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_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_TissueType	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
CDK11A	728642	hgsc.bcm.edu	37	1	1634967	1634967	+	Missense_Mutation	SNP	G	G	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr1:1634967G>C	ENST00000378633.1	-	18	2096	c.2017C>G	c.(2017-2019)Cgc>Ggc	p.R673G	CDK11A_ENST00000358779.5_Missense_Mutation_p.R660G|CDK11A_ENST00000404249.3_Missense_Mutation_p.R670G|CDK11A_ENST00000357760.2_Missense_Mutation_p.R669G|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000356200.3_Missense_Mutation_p.R636G|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.R636G			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	673					apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AAGCGCTTGCGGAGGTTGTTG	0.612																																					Pancreas(186;965 2119 30274 40311 50569)											0													17	31	27					1																	1634967		1542	4054	5596	SO:0001583	missense	728642			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.2017C>G	chr1.hg19:g.1634967G>C	ENSP00000367900:p.Arg673Gly		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	hg19		.	.	.	.	.	.	.	.	.	.	-	10.92	1.486914	0.26686	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000341028	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;2.82	2.51	1.55	0.23275	.	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	L	0.53617	1.68	0.80722	D	1	D;D;D	0.63880	0.979;0.979;0.993	P;P;D	0.66979	0.688;0.688;0.948	T	0.52290	-0.8595	10	0.87932	D	0	.	9.3145	0.37926	0.0:0.0:0.7833:0.2167	.	670;660;287	Q9UQ88-2;Q9UQ88-4;Q9UQ88-5	.;.;.	G	636;670;669;660;673;636;636;57	ENSP00000348529:R636G;ENSP00000384442:R670G;ENSP00000350403:R669G;ENSP00000351629:R660G;ENSP00000367900:R673G;ENSP00000367905:R636G;ENSP00000344418:R57G	ENSP00000344418:R57G	R	-	1	0	CDK11A	1624827	1.000000	0.71417	0.998000	0.56505	0.238000	0.25445	5.403000	0.66338	0.381000	0.24851	0.184000	0.17185	CGC		0.612	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		C	1634967	G	C	1634967	3	2	1	1	0	0	0	0	1	0	0	0	3128	1116	39	4	346	4	CDK11A	1	1634967	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10		1634967	247615654	1	1											
AJAP1	55966	hgsc.bcm.edu	37	1	4772481	4772481	+	Missense_Mutation	SNP	G	G	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr1:4772481G>T	ENST00000378191.4	+	2	932	c.551G>T	c.(550-552)gGg>gTg	p.G184V	AJAP1_ENST00000378190.3_Missense_Mutation_p.G184V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	184	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATCGCCTGGGGGCCCACGGGG	0.647																																																0													18	18	18					1																	4772481		2200	4298	6498	SO:0001583	missense	55966			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.551G>T	chr1.hg19:g.4772481G>T	ENSP00000367433:p.Gly184Val		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	hg19	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305939	0.60305	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.74947	-0.89;-0.89	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81705	-0.0811	10	0.72032	D	0.01	-25.2912	14.3171	0.66460	0.0:0.0:1.0:0.0	.	184	Q9UKB5	AJAP1_HUMAN	V	184	ENSP00000367432:G184V;ENSP00000367433:G184V	ENSP00000367432:G184V	G	+	2	0	AJAP1	4672341	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.294000	0.78760	2.432000	0.82394	0.467000	0.42956	GGG		0.647	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		T	4772481	G	T	4772481	3	4	1	1	0	0	0	0	1	0	0	0	438	1232	43	4	557	4	AJAP1	1	4772481	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	3137514	4772481	244478140	2	2											
PHC2	1912	hgsc.bcm.edu	37	1	33841054	33841054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr1:33841054G>T	ENST00000257118.5	-	1	140	c.87C>A	c.(85-87)tgC>tgA	p.C29*	PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000419414.2_Nonsense_Mutation_p.C29*|PHC2_ENST00000431992.1_Nonsense_Mutation_p.C29*	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	29	Ser-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				tgctgttgttgcagccactgc	0.592																																																0													46	43	44					1																	33841054		2203	4300	6503	SO:0001587	stop_gained	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.87C>A	chr1.hg19:g.33841054G>T	ENSP00000257118:p.Cys29*		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Nonsense_Mutation	SNP	ENST00000257118.5	hg19	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241461	0.79912	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	.	.	.	4.02	2.05	0.26809	.	0.643093	0.14507	N	0.315356	.	.	.	.	.	.	0.29812	N	0.831564	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-0.2524	6.676	0.23093	0.1055:0.1822:0.7123:0.0	.	.	.	.	X	29	.	ENSP00000257118:C29X	C	-	3	2	PHC2	33613641	0.993000	0.37304	0.115000	0.21578	0.963000	0.63663	2.257000	0.43240	0.295000	0.22570	0.407000	0.27541	TGC		0.592	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		T	33841054	G	T	33841054	4	4	1	1	0	0	0	0	0	1	0	0	11819	1311	46	4	2545	4	PHC2	1	33841054	Nonsense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	29068573	33841054	215409567	3	3											
IPO13	9670	hgsc.bcm.edu	37	1	44423158	44423158	+	Missense_Mutation	SNP	G	G	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr1:44423158G>T	ENST00000372343.3	+	7	2139	c.1477G>T	c.(1477-1479)Ggc>Tgc	p.G493C	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	493					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGGGCTCATTGGCCTCATCCC	0.552																																																0													168	136	147					1																	44423158		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1477G>T	chr1.hg19:g.44423158G>T	ENSP00000361418:p.Gly493Cys		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	hg19	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354289	0.82243	.	.	ENSG00000117408	ENST00000372343	T	0.67698	-0.28	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	P	0.56865	0.808	T	0.75747	-0.3209	10	0.66056	D	0.02	1.0371	19.5982	0.95549	0.0:0.0:1.0:0.0	.	493	O94829	IPO13_HUMAN	C	493	ENSP00000361418:G493C	ENSP00000361418:G493C	G	+	1	0	IPO13	44195745	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.735000	0.98825	2.644000	0.89710	0.561000	0.74099	GGC		0.552	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		T	44423158	G	T	44423158	3	4	1	1	0	0	0	0	1	0	0	0	7796	1348	47	4	1503	4	IPO13	1	44423158	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	10582104	44423158	204827463	4	4											
MOV10	4343	hgsc.bcm.edu	37	1	113232693	113232693	+	Missense_Mutation	SNP	G	G	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr1:113232693G>A	ENST00000413052.2	+	5	1199	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.R214Q|MOV10_ENST00000357443.2_Missense_Mutation_p.R270Q|MOV10_ENST00000369645.1_Missense_Mutation_p.R270Q	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	270					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GTGACCAATCGGATAGAGGAA	0.612																																																0													56	58	58					1																	113232693		2203	4300	6503	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.809G>A	chr1.hg19:g.113232693G>A	ENSP00000399797:p.Arg270Gln		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	hg19	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.325084	0.60634	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91577	-2.87;-2.87;-2.86;-2.87	5.77	3.91	0.45181	.	0.509312	0.21069	N	0.080688	T	0.74359	0.3706	L	0.36672	1.1	0.80722	D	1	B;B;B	0.21905	0.012;0.062;0.002	B;B;B	0.13407	0.002;0.009;0.001	T	0.70753	-0.4786	10	0.25751	T	0.34	-17.3516	7.7467	0.28873	0.1826:0.0:0.8174:0.0	.	214;270;270	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	Q	270;270;270;214;270;208	ENSP00000399797:R270Q;ENSP00000358659:R270Q;ENSP00000358658:R214Q;ENSP00000350028:R270Q	ENSP00000285733:R270Q	R	+	2	0	MOV10	113034216	0.976000	0.34144	0.985000	0.45067	0.860000	0.49131	2.114000	0.41911	1.462000	0.47948	0.561000	0.74099	CGG		0.612	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		A	113232693	G	A	113232693	3	1	1	1	0	0	0	0	1	0	0	0	9720	1116	39	1	823	1	MOV10	1	113232693	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	68809535	113232693	136017928	5	5											
C1orf54	79630	hgsc.bcm.edu	37	1	150246488	150246488	+	Splice_Site	SNP	A	A	G			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr1:150246488A>G	ENST00000369102.1	+	4	816		c.e4-1		C1orf54_ENST00000369098.3_Splice_Site|C1orf54_ENST00000369099.3_Splice_Site			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54							extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGTCCCCATAGGACAAGAAT	0.448																																																0													156	161	159					1																	150246488		2203	4300	6503	SO:0001630	splice_region_variant	79630			BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.47-1A>G	chr1.hg19:g.150246488A>G			Q9H5P3	Splice_Site	SNP	ENST00000369102.1	hg19	CCDS948.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151255	0.57151	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	4.88	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3061	0.26449	0.901:0.0:0.099:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf54	148513112	0.973000	0.33851	0.962000	0.40283	0.976000	0.68499	2.557000	0.45871	0.991000	0.38814	0.523000	0.50628	.		0.448	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035055.1	NM_024579	Intron	G	150246488	A	G	150246488	5	3	1	1	0	0	0	0	0	0	1	0	2048	434	15	3	51	3	C1orf54	1	150246488	Splice_Site	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10	37013795	150246488	99004133	6	6											
DUSP27	92235	hgsc.bcm.edu	37	1	167097288	167097288	+	Missense_Mutation	SNP	A	A	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr1:167097288A>C	ENST00000361200.2	+	6	3086	c.2920A>C	c.(2920-2922)Aaa>Caa	p.K974Q	DUSP27_ENST00000443333.1_Missense_Mutation_p.K974Q|DUSP27_ENST00000271385.5_Missense_Mutation_p.K974Q|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	974	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GACAGAGTCTAAATCCTCCAG	0.507																																																0													70	64	66					1																	167097288		2203	4300	6503	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2920A>C	chr1.hg19:g.167097288A>C	ENSP00000354483:p.Lys974Gln		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	hg19	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307265	0.23821	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03386	3.95;3.95;3.95	4.9	3.75	0.43078	.	0.112170	0.40469	N	0.001100	T	0.01592	0.0051	L	0.57536	1.79	0.30368	N	0.783178	P	0.35077	0.483	B	0.33392	0.163	T	0.38845	-0.9642	10	0.66056	D	0.02	-29.7498	3.4315	0.07430	0.6859:0.0:0.3141:0.0	.	974	Q5VZP5	DUS27_HUMAN	Q	974	ENSP00000354483:K974Q;ENSP00000271385:K974Q;ENSP00000404874:K974Q	ENSP00000271385:K974Q	K	+	1	0	DUSP27	165363912	1.000000	0.71417	0.024000	0.17045	0.360000	0.29518	3.431000	0.52814	2.047000	0.60756	0.523000	0.50628	AAA		0.507	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		C	167097288	A	C	167097288	3	2	1	1	0	0	0	0	1	0	0	0	4826	363	13	5	2938	5	DUSP27	1	167097288	Missense_Mutation	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10	16850800	167097288	82153333	7	7											
NRBP1	29959	hgsc.bcm.edu	37	2	27663700	27663700	+	Missense_Mutation	SNP	G	G	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr2:27663700G>C	ENST00000233557.3	+	15	2054	c.1222G>C	c.(1222-1224)Ggg>Cgg	p.G408R	KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank|NRBP1_ENST00000379863.3_Missense_Mutation_p.G416R|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.G408R			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	408					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GACAGCCTTTGGGCTGCCTCG	0.602																																																0													61	66	64					2																	27663700		2203	4300	6503	SO:0001583	missense	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1222G>C	chr2.hg19:g.27663700G>C	ENSP00000233557:p.Gly408Arg		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	hg19	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781434	0.90282	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.28255	1.62;1.62;1.62	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.48370	0.1496	L	0.47716	1.5	0.80722	D	1	D;D;P	0.63046	0.992;0.964;0.901	P;P;P	0.61800	0.894;0.683;0.484	T	0.25984	-1.0116	10	0.51188	T	0.08	-20.4213	18.9284	0.92554	0.0:0.0:1.0:0.0	.	388;416;408	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	R	408;388;408;416	ENSP00000233557:G408R;ENSP00000369181:G408R;ENSP00000369192:G416R	ENSP00000233557:G408R	G	+	1	0	NRBP1	27517204	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.631000	0.98424	2.821000	0.97095	0.561000	0.74099	GGG		0.602	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		C	27663700	G	C	27663700	3	2	1	1	0	0	0	0	1	0	0	0	10644	1348	47	4	1272	4	NRBP1	2	27663700	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10		27663700	215535673	8	8											
RANBP2	5903	hgsc.bcm.edu	37	2	109381490	109381490	+	Missense_Mutation	SNP	T	T	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr2:109381490T>C	ENST00000283195.6	+	20	4621	c.4495T>C	c.(4495-4497)Tgt>Cgt	p.C1499R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1499					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTCTACAAAATGTGCTGCTTG	0.398																																																0													76	75	76					2																	109381490		2203	4299	6502	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4495T>C	chr2.hg19:g.109381490T>C	ENSP00000283195:p.Cys1499Arg		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	hg19	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413745	0.42817	.	.	ENSG00000153201	ENST00000283195	D	0.99797	-6.79	5.24	5.24	0.73138	Zinc finger, RanBP2-type (4);	.	.	.	.	D	0.99843	0.9928	H	0.95780	3.72	0.52501	D	0.999951	D	0.76494	0.999	D	0.79108	0.992	D	0.96582	0.9431	9	0.87932	D	0	-15.2685	15.1468	0.72662	0.0:0.0:0.0:1.0	.	1499	P49792	RBP2_HUMAN	R	1499	ENSP00000283195:C1499R	ENSP00000283195:C1499R	C	+	1	0	RANBP2	108747922	1.000000	0.71417	0.980000	0.43619	0.686000	0.39977	5.855000	0.69510	1.975000	0.57531	0.533000	0.62120	TGT		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		C	109381490	T	C	109381490	3	2	1	1	0	0	0	0	1	0	0	0	13034	1464	51	3	4573	3	RANBP2	2	109381490	Missense_Mutation	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10	81717790	109381490	133817883	9	9											
WDR33	55339	hgsc.bcm.edu	37	2	128528415	128528415	+	Silent	SNP	T	T	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr2:128528415T>A	ENST00000322313.4	-	2	299	c.141A>T	c.(139-141)cgA>cgT	p.R47R	WDR33_ENST00000393006.1_Silent_p.R47R|WDR33_ENST00000409658.3_Silent_p.R47R	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	47					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTTTTCTCATTCGTTTTCCAT	0.413																																																0													129	119	122					2																	128528415		2203	4300	6503	SO:0001819	synonymous_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.141A>T	chr2.hg19:g.128528415T>A			Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	hg19	CCDS2150.1																																																																																				0.413	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		A	128528415	T	A	128528415	2	1	1	1	0	0	0	0	0	0	0	1	17292	1770	62	5		5	WDR33	2	128528415	Silent	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10	19146925	128528415	114670958	10	10											
TRAK2	66008	hgsc.bcm.edu	37	2	202265791	202265791	+	Missense_Mutation	SNP	T	T	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr2:202265791T>C	ENST00000332624.3	-	4	741	c.313A>G	c.(313-315)Atg>Gtg	p.M105V	TRAK2_ENST00000430254.1_Missense_Mutation_p.M105V	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	105	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GTTTTGGTCATCTGCTCCACC	0.333																																																0													163	145	151					2																	202265791		2203	4300	6503	SO:0001583	missense	66008			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.313A>G	chr2.hg19:g.202265791T>C	ENSP00000328875:p.Met105Val		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	hg19	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184998	0.38609	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	T;T	0.18338	2.22;2.22	5.86	5.86	0.93980	.	0.045004	0.85682	D	0.000000	T	0.12860	0.0312	L	0.38838	1.175	0.80722	D	1	B;B	0.17465	0.01;0.022	B;B	0.12837	0.008;0.008	T	0.12041	-1.0563	10	0.45353	T	0.12	.	5.759	0.18188	0.1499:0.0778:0.0:0.7723	.	105;105	E7EV21;O60296	.;TRAK2_HUMAN	V	105;11;105	ENSP00000328875:M105V;ENSP00000409333:M105V	ENSP00000328875:M105V	M	-	1	0	TRAK2	201974036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.566000	0.53805	2.367000	0.80283	0.528000	0.53228	ATG		0.333	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		C	202265791	T	C	202265791	3	2	1	1	0	0	0	0	1	0	0	0	16455	1435	50	3	2483	3	TRAK2	2	202265791	Missense_Mutation	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10	73737376	202265791	40933582	11	11											
HTR2B	3357	hgsc.bcm.edu	37	2	231973805	231973805	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr2:231973805delT	ENST00000258400.3	-	4	1384	c.872delA	c.(871-873)aagfs	p.K291fs	PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	291					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	GGGCAGAGCCTTGTCCTTTCG	0.478																																					Ovarian(155;1331 1891 12853 14038 34991)											0													195	182	186					2																	231973805		2203	4300	6503	SO:0001589	frameshift_variant	3357				CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.872delA	chr2.hg19:g.231973805delT	ENSP00000258400:p.Lys291fs		B2R9D5|Q53TI1|Q62221|Q6P523	Frame_Shift_Del	DEL	ENST00000258400.3	hg19	CCDS2483.1																																																																																				0.478	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		-	231973805	T	-	231973805	7	5	1	1	0	1	0	1	0	0	0	0	7444	1609	56	0	577	0	HTR2B	2	231973805	Frame_Shift_Del	DEL	T	TCGA-2K-A9WE-01A-11D-A382-10	29708014	231973805	11225568	12	12											
DUSP7	1849	hgsc.bcm.edu	37	3	52088120	52088120	+	Missense_Mutation	SNP	A	A	G			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr3:52088120A>G	ENST00000495880.1	-	2	971	c.788T>C	c.(787-789)cTg>cCg	p.L263P	DUSP7_ENST00000296483.6_Missense_Mutation_p.L212P			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	263					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGCACGTCCAGGTTGGTGGA	0.592																																																0													281	251	261					3																	52088120		2203	4300	6503	SO:0001583	missense	1849			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.788T>C	chr3.hg19:g.52088120A>G	ENSP00000417183:p.Leu263Pro		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	hg19	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671947	0.88348	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	T;T;T	0.61742	0.08;0.08;0.08	5.42	5.42	0.78866	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	D	0.000001	T	0.70762	0.3261	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79784	0.978;0.993	T	0.72887	-0.4156	10	0.59425	D	0.04	.	15.1265	0.72486	1.0:0.0:0.0:0.0	.	212;263	Q16829-2;Q16829	.;DUS7_HUMAN	P	263;212;196	ENSP00000417183:L263P;ENSP00000296483:L212P;ENSP00000418566:L196P	ENSP00000296483:L212P	L	-	2	0	DUSP7	52063160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.260000	0.95568	2.044000	0.60594	0.448000	0.29417	CTG		0.592	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		G	52088120	A	G	52088120	3	3	1	1	0	0	0	0	1	0	0	0	4832	188	7	3	479	3	DUSP7	3	52088120	Missense_Mutation	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10		52088120	145934310	13	13											
TMEM14E	645843	hgsc.bcm.edu	37	3	152058400	152058400	+	Silent	SNP	C	C	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr3:152058400C>T	ENST00000408960.3	-	1	379	c.294G>A	c.(292-294)ctG>ctA	p.L98L	MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000493459.1_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	98						integral component of membrane (GO:0016021)				lung(1)	1						TGGAAACTATCAGCAGGCACC	0.418																																																0													91	85	87					3																	152058400		1568	3582	5150	SO:0001819	synonymous_variant	645843				CCDS43161.1	3q25.1	2011-09-15			ENSG00000221962	ENSG00000221962			34386	protein-coding gene	gene with protein product							Standard	NM_001123228		Approved		uc010hvo.3	Q6UXP3	OTTHUMG00000159652	ENST00000408960.3:c.294G>A	chr3.hg19:g.152058400C>T				Silent	SNP	ENST00000408960.3	hg19	CCDS43161.1																																																																																				0.418	TMEM14E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356703.1	NM_001123228		T	152058400	C	T	152058400	2	4	1	1	0	0	0	0	0	0	0	1	16071	813	29	2		2	TMEM14E	3	152058400	Silent	SNP	C	TCGA-2K-A9WE-01A-11D-A382-10	99970280	152058400	45964030	14	14											
DNAH5	1767	hgsc.bcm.edu	37	5	13917315	13917315	+	Missense_Mutation	SNP	C	C	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr5:13917315C>A	ENST00000265104.4	-	8	1130	c.1026G>T	c.(1024-1026)aaG>aaT	p.K342N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	342	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCACATTGTCCTTTGCTTCAT	0.358									Kartagener syndrome																																							0													161	136	144					5																	13917315		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1026G>T	chr5.hg19:g.13917315C>A	ENSP00000265104:p.Lys342Asn		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671367	0.67814	.	.	ENSG00000039139	ENST00000265104	T	0.56444	0.46	5.63	2.86	0.33363	Dynein heavy chain, domain-1 (1);	0.049678	0.85682	D	0.000000	T	0.73048	0.3537	M	0.91406	3.205	0.54753	D	0.999983	D	0.76494	0.999	D	0.83275	0.996	T	0.72673	-0.4222	10	0.62326	D	0.03	.	6.2795	0.20999	0.0:0.5504:0.0:0.4495	.	342	Q8TE73	DYH5_HUMAN	N	342	ENSP00000265104:K342N	ENSP00000265104:K342N	K	-	3	2	DNAH5	13970315	1.000000	0.71417	0.991000	0.47740	0.744000	0.42396	2.092000	0.41700	0.716000	0.32124	0.561000	0.74099	AAG		0.358	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13917315	C	A	13917315	3	1	1	1	0	0	0	0	1	0	0	0	4606	680	24	4	13136	4	DNAH5	5	13917315	Missense_Mutation	SNP	C	TCGA-2K-A9WE-01A-11D-A382-10		13917315	166997945	15	15											
EGFLAM	133584	hgsc.bcm.edu	37	5	38370553	38370553	+	Missense_Mutation	SNP	T	T	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr5:38370553T>A	ENST00000354891.3	+	6	1047	c.701T>A	c.(700-702)aTc>aAc	p.I234N	EGFLAM_ENST00000322350.5_Missense_Mutation_p.I234N	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	234	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGTGACATCATCCGGACCCTC	0.572																																					Colon(62;485 1295 3347 17454)											0													37	37	37					5																	38370553		2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.701T>A	chr5.hg19:g.38370553T>A	ENSP00000346964:p.Ile234Asn		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	hg19	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167665	0.57476	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.57273	0.57;0.41	5.82	3.44	0.39384	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.647983	0.16664	N	0.204679	T	0.67040	0.2851	M	0.85197	2.74	0.80722	D	1	P;P	0.48640	0.859;0.913	P;P	0.53722	0.545;0.733	T	0.67914	-0.5547	10	0.87932	D	0	-27.5021	9.7299	0.40355	0.0:0.1404:0.0:0.8596	.	234;234	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	N	234	ENSP00000346964:I234N;ENSP00000313084:I234N	ENSP00000313084:I234N	I	+	2	0	EGFLAM	38406310	0.999000	0.42202	0.002000	0.10522	0.634000	0.38068	7.066000	0.76734	0.481000	0.27557	0.459000	0.35465	ATC		0.572	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		A	38370553	T	A	38370553	3	1	1	1	0	0	0	0	1	0	0	0	4968	1435	50	5	723	5	EGFLAM	5	38370553	Missense_Mutation	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10	24453238	38370553	142544707	16	16											
CCDC90A	63933	hgsc.bcm.edu	37	6	13814461	13814461	+	Silent	SNP	T	T	C	rs371767736	byFrequency	TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr6:13814461T>C	ENST00000379170.4	-	1	339	c.201A>G	c.(199-201)tcA>tcG	p.S67S	MCUR1_ENST00000359495.2_Silent_p.S67S	NM_001031713.3	NP_001026883.1	Q96AQ8	MCUR1_HUMAN	mitochondrial calcium uniporter regulator 1	67					calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	integral component of mitochondrial inner membrane (GO:0031305)											GGAGCAGCGGTGAGGCACGTG	0.776													T|||	104	0.0207668	0.0	0.062	5008	,	,		7906	0.001		0.0308	False		,,,				2504	0.0297															0								T		3,2137		0,3,1067	2	3	2		201	-4.7	0	6		2	86,4212		0,86,2063	no	coding-synonymous	CCDC90A	NM_001031713.3		0,89,3130	CC,CT,TT		2.0009,0.1402,1.3824		67/360	13814461	89,6349	1070	2149	3219	SO:0001819	synonymous_variant	63933			BC016850	CCDS35495.1	6p23	2013-03-13	2013-03-13	2013-03-13	ENSG00000050393	ENSG00000050393			21097	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 79", "coiled-coil domain containing 90A"	C6orf79, CCDC90A		23178883	Standard	NM_001031713		Approved	FLJ20958	uc003nbc.2	Q96AQ8	OTTHUMG00000014279	ENST00000379170.4:c.201A>G	chr6.hg19:g.13814461T>C			Q96JS7|Q9H7F8	Silent	SNP	ENST00000379170.4	hg19	CCDS35495.1																																																																																				0.776	MCUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039909.3	NM_022102		C	13814461	T	C	13814461	2	2	1	1	0	0	0	0	0	0	0	1	2870	1683	59	3		3	CCDC90A	6	13814461	Silent	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10		13814461	157300606	17	17											
SLC39A7	7922	hgsc.bcm.edu	37	6	33170059	33170059	+	Silent	SNP	T	T	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr6:33170059T>A	ENST00000374677.3	+	4	1027	c.654T>A	c.(652-654)tcT>tcA	p.S218S	SLC39A7_ENST00000463972.1_3'UTR|HSD17B8_ENST00000374662.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_Silent_p.S218S|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	218					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCATTCTGTCTGTGGGACTGT	0.517																																																0													114	120	118					6																	33170059		1270	2569	3839	SO:0001819	synonymous_variant	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.654T>A	chr6.hg19:g.33170059T>A			B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	hg19	CCDS43453.1																																																																																				0.517	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		A	33170059	T	A	33170059	2	1	1	1	0	0	0	0	0	0	0	1	14629	1567	55	5		5	SLC39A7	6	33170059	Silent	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10	19355598	33170059	137945008	18	18											
GTPBP2	54676	hgsc.bcm.edu	37	6	43593600	43593600	+	Splice_Site	SNP	C	C	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr6:43593600C>A	ENST00000307126.5	-	4	399	c.400G>T	c.(400-402)Gtt>Ttt	p.V134F	GTPBP2_ENST00000307114.7_Splice_Site_p.V46F|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TCTGCCCCAACCCTGTCACAG	0.552																																					GBM(116;405 1620 28302 32150 44768)											0													136	113	121					6																	43593600		2203	4300	6503	SO:0001630	splice_region_variant	54676			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.399-1G>T	chr6.hg19:g.43593600C>A				Missense_Mutation	SNP	ENST00000307126.5	hg19	CCDS4903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.109076|4.109076	0.77096|0.77096	.|.	.|.	ENSG00000172432|ENSG00000172432	ENST00000442748|ENST00000307126;ENST00000307114;ENST00000452781	.|T;T;T	.|0.48836	.|1.39;1.42;0.8	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43875|0.43875	0.1267|0.1267	M|M	0.73217|0.73217	2.22|2.22	0.58432|0.58432	D|D	0.999997|0.999997	.|P;P	.|0.49090	.|0.919;0.675	.|B;B	.|0.43623	.|0.425;0.176	T|T	0.55952|0.55952	-0.8059|-0.8059	5|10	.|0.72032	.|D	.|0.01	-12.0424|-12.0424	17.9977|17.9977	0.89189|0.89189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|126;134	.|Q9BX10-4;Q9BX10	.|.;GTPB2_HUMAN	S|F	99|134;46;126	.|ENSP00000303997:V134F;ENSP00000304893:V46F;ENSP00000410676:V126F	.|ENSP00000304893:V46F	R|V	-|-	3|1	2|0	GTPBP2|GTPBP2	43701578|43701578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.893000|0.893000	0.52053|0.52053	4.463000|4.463000	0.60128|0.60128	2.480000|2.480000	0.83734|0.83734	0.561000|0.561000	0.74099|0.74099	AGG|GTT		0.552	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1		Missense_Mutation	A	43593600	C	A	43593600	5	1	1	1	0	0	0	0	0	0	1	0	6882	521	18	4	1444	4	GTPBP2	6	43593600	Splice_Site	SNP	C	TCGA-2K-A9WE-01A-11D-A382-10	10423541	43593600	127521467	19	19											
MEP1A	4224	hgsc.bcm.edu	37	6	46766863	46766863	+	Missense_Mutation	SNP	A	A	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr6:46766863A>T	ENST00000230588.4	+	5	216	c.207A>T	c.(205-207)agA>agT	p.R69S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	69	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATGGCCTGAGAGACCCAAACA	0.423																																																0													156	147	150					6																	46766863		2203	4300	6503	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.207A>T	chr6.hg19:g.46766863A>T	ENSP00000230588:p.Arg69Ser		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	hg19	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443835	0.63067	.	.	ENSG00000112818	ENST00000230588	T	0.25579	1.79	5.77	4.62	0.57501	Metallopeptidase, catalytic domain (1);	0.103697	0.64402	D	0.000003	T	0.24353	0.0590	L	0.61218	1.895	0.38384	D	0.945216	D;D	0.69078	0.995;0.997	P;P	0.58721	0.844;0.824	T	0.06899	-1.0801	10	0.27082	T	0.32	-20.7669	8.3767	0.32447	0.9122:0.0:0.0878:0.0	.	97;69	B7ZL91;Q16819	.;MEP1A_HUMAN	S	69	ENSP00000230588:R69S	ENSP00000230588:R69S	R	+	3	2	MEP1A	46874822	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	1.001000	0.29783	1.039000	0.40074	0.528000	0.53228	AGA		0.423	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		T	46766863	A	T	46766863	3	4	1	1	0	0	0	0	1	0	0	0	9477	301	11	5	225	5	MEP1A	6	46766863	Missense_Mutation	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10	3173263	46766863	124348204	20	20											
HEATR2	54919	hgsc.bcm.edu	37	7	780577	780577	+	Missense_Mutation	SNP	T	T	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr7:780577T>A	ENST00000297440.6	+	3	922	c.902T>A	c.(901-903)gTc>gAc	p.V301D	HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Missense_Mutation_p.V301D	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	301						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GTGCCTGAGGTCAGGTACGTG	0.592																																																0													117	99	105					7																	780577		2203	4300	6503	SO:0001583	missense	54919			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.902T>A	chr7.hg19:g.780577T>A	ENSP00000297440:p.Val301Asp		Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	hg19	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.230973	0.39399	.	.	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862	T;T	0.68025	-0.3;-0.3	4.66	2.28	0.28536	Armadillo-like helical (1);Armadillo-type fold (1);	0.866751	0.09639	N	0.775197	T	0.62073	0.2398	M	0.61703	1.905	0.19945	N	0.999944	P;P	0.39920	0.695;0.478	B;B	0.40199	0.322;0.154	T	0.55186	-0.8180	10	0.87932	D	0	-13.8309	4.2822	0.10838	0.1838:0.1694:0.0:0.6468	.	301;47	Q86Y56;F5H8D4	HEAT2_HUMAN;.	D	301;301;47	ENSP00000297440:V301D;ENSP00000321451:V301D	ENSP00000297440:V301D	V	+	2	0	HEATR2	747103	0.981000	0.34729	0.003000	0.11579	0.034000	0.12701	4.207000	0.58480	0.261000	0.21753	0.528000	0.53228	GTC		0.592	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		A	780577	T	A	780577	3	1	1	1	0	0	0	0	1	0	0	0	7030	1667	58	5	912	5	HEATR2	7	780577	Missense_Mutation	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10		780577	158358086	21	21											
PDE1C	5137	hgsc.bcm.edu	37	7	31862810	31862810	+	Missense_Mutation	SNP	C	C	A	rs372917246		TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr7:31862810C>A	ENST00000396191.1	-	14	1914	c.1459G>T	c.(1459-1461)Ggt>Tgt	p.G487C	PDE1C_ENST00000396182.2_Missense_Mutation_p.G487C|PDE1C_ENST00000321453.7_Missense_Mutation_p.G487C|PDE1C_ENST00000396193.1_Missense_Mutation_p.G547C|PDE1C_ENST00000396184.3_Missense_Mutation_p.G487C|PDE1C_ENST00000479980.1_5'Flank	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	487	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCCTCTGAACCAGAGGTCTTG	0.443																																																0													106	96	99					7																	31862810		2203	4300	6503	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1459G>T	chr7.hg19:g.31862810C>A	ENSP00000379494:p.Gly487Cys		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	hg19	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809335	0.90707	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.68;-0.68	5.91	5.91	0.95273	.	0.634852	0.16753	N	0.200964	T	0.78910	0.4358	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.73380	0.927;0.912;0.98	T	0.79507	-0.1775	10	0.72032	D	0.01	.	19.9003	0.96983	0.0:1.0:0.0:0.0	.	487;547;487	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	C	547;487;487;487;487	ENSP00000379496:G547C;ENSP00000379494:G487C;ENSP00000318105:G487C;ENSP00000379487:G487C;ENSP00000379485:G487C	ENSP00000318105:G487C	G	-	1	0	PDE1C	31829335	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.060000	0.76692	2.808000	0.96608	0.655000	0.94253	GGT		0.443	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			A	31862810	C	A	31862810	3	1	1	1	0	0	0	0	1	0	0	0	11637	594	21	4	461	4	PDE1C	7	31862810	Missense_Mutation	SNP	C	TCGA-2K-A9WE-01A-11D-A382-10	31082233	31862810	127275853	22	22											
PTPRZ1	5803	hgsc.bcm.edu	37	7	121682687	121682687	+	Missense_Mutation	SNP	T	T	G			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr7:121682687T>G	ENST00000393386.2	+	22	6238	c.5827T>G	c.(5827-5829)Tat>Gat	p.Y1943D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y1076D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1943	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AACAGGCACATATATTGTGCT	0.338																																																0													121	99	107					7																	121682687		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5827T>G	chr7.hg19:g.121682687T>G	ENSP00000377047:p.Tyr1943Asp		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068493	0.76301	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.14516	2.5;2.5	5.86	5.86	0.93980	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000006	T	0.50599	0.1625	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.65240	-0.6216	10	0.87932	D	0	.	16.2644	0.82568	0.0:0.0:0.0:1.0	.	1082;1076;1943	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	D	1943;1076	ENSP00000377047:Y1943D;ENSP00000410000:Y1076D	ENSP00000377047:Y1943D	Y	+	1	0	PTPRZ1	121469923	1.000000	0.71417	0.179000	0.23059	0.735000	0.41995	8.040000	0.89188	2.244000	0.73946	0.528000	0.53228	TAT		0.338	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		G	121682687	T	G	121682687	3	3	1	1	0	0	0	0	1	0	0	0	12820	1406	49	5	5913	5	PTPRZ1	7	121682687	Missense_Mutation	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10	89819877	121682687	37455976	23	23											
ADAM7	8756	hgsc.bcm.edu	37	8	24350057	24350058	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr8:24350057_24350058insA	ENST00000175238.6	+	15	1685_1686	c.1602_1603insA	c.(1603-1605)aaafs	p.K535fs	RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Frame_Shift_Ins_p.K307fs|ADAM7_ENST00000380789.1_Frame_Shift_Ins_p.K535fs	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	535	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAAAAGGAAATAAATTTGGATA	0.347																																																0																																										SO:0001589	frameshift_variant	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1605dupA	chr8.hg19:g.24350060_24350060dupA	ENSP00000175238:p.Lys535fs		A8K8X7|O75959|Q6PEJ6	Frame_Shift_Ins	INS	ENST00000175238.6	hg19	CCDS6045.1																																																																																				0.347	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		A	24350058	-	A	24350057	7	5	1	1	0	1	1	0	0	0	0	0	251	1403	49	0	1660	0	ADAM7	8	24350057	Frame_Shift_Ins	INS	-	TCGA-2K-A9WE-01A-11D-A382-10		24350057	122013965	24	24											
MYST3	7994	hgsc.bcm.edu	37	8	41790172	41790172	+	Missense_Mutation	SNP	A	A	G			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr8:41790172A>G	ENST00000396930.3	-	18	6109	c.5566T>C	c.(5566-5568)Tcc>Ccc	p.S1856P	KAT6A_ENST00000406337.1_Missense_Mutation_p.S1856P|KAT6A_ENST00000265713.2_Missense_Mutation_p.S1856P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1856					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAGCGGATGGAAATGTGCCCC	0.592																																																0													118	80	93					8																	41790172		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5566T>C	chr8.hg19:g.41790172A>G	ENSP00000380136:p.Ser1856Pro		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	hg19	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	8.585	0.883157	0.17467	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.67865	-0.29;-0.29;-0.29	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.69459	0.3113	L	0.27053	0.805	0.43994	D	0.996696	D	0.69078	0.997	P	0.60789	0.879	T	0.69731	-0.5066	10	0.38643	T	0.18	-11.9288	15.9132	0.79488	1.0:0.0:0.0:0.0	.	1856	Q92794	KAT6A_HUMAN	P	1856	ENSP00000265713:S1856P;ENSP00000385888:S1856P;ENSP00000380136:S1856P	ENSP00000265713:S1856P	S	-	1	0	KAT6A	41909329	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.712000	0.54875	2.148000	0.66965	0.533000	0.62120	TCC		0.592	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		G	41790172	A	G	41790172	3	3	1	1	0	0	0	0	1	0	0	0	10106	246	9	3	452	3	MYST3	8	41790172	Missense_Mutation	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10	17440115	41790172	104573850	25	25											
SLC30A8	169026	hgsc.bcm.edu	37	8	118169968	118169968	+	Missense_Mutation	SNP	G	G	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr8:118169968G>A	ENST00000456015.2	+	4	457	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	SLC30A8_ENST00000519688.1_Missense_Mutation_p.V104M|SLC30A8_ENST00000521243.1_Missense_Mutation_p.V104M|SLC30A8_ENST00000427715.2_Missense_Mutation_p.V104M	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	153					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GTGCATCTGGGTGGTGACTGG	0.527																																					Ovarian(162;1202 1922 6011 16223 52092)											0													321	285	298					8																	118169968		2203	4300	6503	SO:0001583	missense	169026				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.457G>A	chr8.hg19:g.118169968G>A	ENSP00000415011:p.Val153Met		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	hg19	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059889	0.36373	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.77	1.77	0.24775	.	0.454505	0.23945	N	0.043018	T	0.61248	0.2332	M	0.66439	2.03	0.43756	D	0.996263	B	0.26845	0.161	B	0.37731	0.257	T	0.52939	-0.8508	10	0.35671	T	0.21	-0.9189	8.5281	0.33317	0.1502:0.5085:0.3413:0.0	.	153	Q8IWU4	ZNT8_HUMAN	M	104;104;104;153	ENSP00000428545:V104M;ENSP00000407505:V104M;ENSP00000431069:V104M;ENSP00000415011:V153M	ENSP00000407505:V104M	V	+	1	0	SLC30A8	118239149	0.999000	0.42202	0.988000	0.46212	0.836000	0.47400	0.543000	0.23237	0.034000	0.15491	0.655000	0.94253	GTG		0.527	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		A	118169968	G	A	118169968	3	1	1	1	0	0	0	0	1	0	0	0	14567	1261	44	2	471	2	SLC30A8	8	118169968	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	76379796	118169968	28194054	26	26											
ALDOB	229	hgsc.bcm.edu	37	9	104187287	104187287	+	Silent	SNP	A	A	G			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr9:104187287A>G	ENST00000374855.4	-	8	961	c.837T>C	c.(835-837)gaT>gaC	p.D279D	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	279					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGAGAGTGGCATCCTCTTCAC	0.498																																																0													88	82	84					9																	104187287		2203	4300	6503	SO:0001819	synonymous_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.837T>C	chr9.hg19:g.104187287A>G			Q13741|Q13742|Q5T7D6	Silent	SNP	ENST00000374855.4	hg19	CCDS6756.1																																																																																				0.498	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			G	104187287	A	G	104187287	2	3	1	1	0	0	0	0	0	0	0	1	508	214	8	3		3	ALDOB	9	104187287	Silent	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10		104187287	37026144	27	27											
NUP188	23511	hgsc.bcm.edu	37	9	131761490	131761490	+	Silent	SNP	G	G	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr9:131761490G>T	ENST00000372577.2	+	33	3576	c.3555G>T	c.(3553-3555)acG>acT	p.T1185T		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1185					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GACCCTTGACGGAGATCCTGG	0.522											OREG0003925	type=REGULATORY REGION|Gene=AK025292|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													90	81	84					9																	131761490		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3555G>T	chr9.hg19:g.131761490G>T		1590	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	hg19	CCDS35156.1																																																																																				0.522	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			T	131761490	G	T	131761490	2	4	1	1	0	0	0	0	0	0	0	1	10760	1103	39	4		4	NUP188	9	131761490	Silent	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	27574203	131761490	9451941	28	28											
RXRA	6256	hgsc.bcm.edu	37	9	137313579	137313579	+	Missense_Mutation	SNP	G	G	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr9:137313579G>A	ENST00000481739.1	+	6	890	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	RXRA_ENST00000540193.1_Missense_Mutation_p.V183M|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	280	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	TTTCACCCTGGTGGAGTGGGC	0.607																																																0													168	141	150					9																	137313579		2203	4300	6503	SO:0001583	missense	6256			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.838G>A	chr9.hg19:g.137313579G>A	ENSP00000419692:p.Val280Met		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	hg19	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543798	0.86022	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.97455	-4.39;-4.39	4.51	4.51	0.55191	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.060613	0.64402	D	0.000004	D	0.98324	0.9444	M	0.91510	3.215	0.80722	D	1	P;D	0.54964	0.872;0.969	P;P	0.54965	0.541;0.765	D	0.99744	1.1016	10	0.87932	D	0	.	17.2581	0.87063	0.0:0.0:1.0:0.0	.	183;280	B3KY83;P19793	.;RXRA_HUMAN	M	280;183	ENSP00000419692:V280M;ENSP00000442123:V183M	ENSP00000419692:V280M	V	+	1	0	RXRA	136453400	1.000000	0.71417	0.973000	0.42090	0.868000	0.49771	9.335000	0.96500	2.055000	0.61198	0.485000	0.47835	GTG		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		A	137313579	G	A	137313579	3	1	1	1	0	0	0	0	1	0	0	0	13769	1261	44	2	860	2	RXRA	9	137313579	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	5552089	137313579	3899852	29	29											
ANUBL1	93550	hgsc.bcm.edu	37	10	46113699	46113699	+	Missense_Mutation	SNP	G	G	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr10:46113699G>C	ENST00000344646.5	-	9	2152	c.1937C>G	c.(1936-1938)aCt>aGt	p.T646S	ZFAND4_ENST00000374371.2_Nonsense_Mutation_p.Y193*|ZFAND4_ENST00000374366.3_Missense_Mutation_p.T572S|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	646							zinc ion binding (GO:0008270)										GTGATGAGTAGTACATTCTCC	0.368																																																0													89	89	89					10																	46113699		2203	4300	6503	SO:0001583	missense	93550			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.1937C>G	chr10.hg19:g.46113699G>C	ENSP00000339484:p.Thr646Ser		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	hg19	CCDS7214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.673531|6.673531	0.97751|0.97751	.|.	.|.	ENSG00000172671|ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370|ENST00000374371;ENST00000374376	T;T|.	0.23950|.	1.88;1.88|.	5.99|5.99	1.9|1.9	0.25705|0.25705	Zinc finger, AN1-type (1);|.	0.810801|.	0.10951|.	N|.	0.616052|.	T|.	0.20700|.	0.0498|.	N|N	0.16656|0.16656	0.425|0.425	0.09310|0.09310	N|N	1|1	B|.	0.15473|.	0.013|.	B|.	0.10450|.	0.005|.	T|.	0.24977|.	-1.0145|.	10|.	0.21014|0.25751	T|T	0.42|0.34	.|.	5.5692|5.5692	0.17187|0.17187	0.0692:0.1228:0.5544:0.2537|0.0692:0.1228:0.5544:0.2537	.|.	646|.	Q86XD8|.	ANUB1_HUMAN|.	S|X	646;572;528|193	ENSP00000339484:T646S;ENSP00000363486:T572S|.	ENSP00000339484:T646S|ENSP00000363491:Y193X	T|Y	-|-	2|3	0|2	ANUBL1|ANUBL1	45433705|45433705	0.848000|0.848000	0.29623|0.29623	0.018000|0.018000	0.16275|0.16275	0.998000|0.998000	0.95712|0.95712	0.364000|0.364000	0.20325|0.20325	0.091000|0.091000	0.17302|0.17302	0.655000|0.655000	0.94253|0.94253	ACT|TAC		0.368	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		C	46113699	G	C	46113699	3	2	1	1	0	0	0	0	1	0	0	0	713	1029	36	4	254	4	ANUBL1	10	46113699	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10		46113699	89421048	30	30											
ARHGAP22	58504	hgsc.bcm.edu	37	10	49663122	49663122	+	Missense_Mutation	SNP	G	G	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr10:49663122G>A	ENST00000249601.4	-	6	1011	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P130S|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P245S|ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P255S|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P149S	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	239	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACGGGCTCGGGGAGCTCCCGC	0.662																																																0													40	34	36					10																	49663122		2202	4300	6502	SO:0001583	missense	58504			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.715C>T	chr10.hg19:g.49663122G>A	ENSP00000249601:p.Pro239Ser		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	hg19	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938685	0.92526	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T	0.58358	2.26;0.34;2.26;2.26;0.34	4.85	4.85	0.62838	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	M	0.85099	2.735	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.988;1.0;0.988;0.994	D;D;D;D;D	0.87578	0.98;0.954;0.998;0.954;0.966	T	0.80837	-0.1204	10	0.72032	D	0.01	.	16.9763	0.86314	0.0:0.0:1.0:0.0	.	245;239;255;239;149	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3	.;.;.;RHG22_HUMAN;.	S	239;130;149;245;255	ENSP00000249601:P239S;ENSP00000363287:P130S;ENSP00000410054:P149S;ENSP00000416701:P245S;ENSP00000412461:P255S	ENSP00000249601:P239S	P	-	1	0	ARHGAP22	49333128	1.000000	0.71417	0.827000	0.32855	0.943000	0.58893	9.747000	0.98863	2.246000	0.74042	0.561000	0.74099	CCC		0.662	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		A	49663122	G	A	49663122	3	1	1	1	0	0	0	0	1	0	0	0	872	1232	43	2	1401	2	ARHGAP22	10	49663122	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	3549423	49663122	85871625	31	31											
LRDD	55367	hgsc.bcm.edu	37	11	801990	801990	+	Missense_Mutation	SNP	G	G	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr11:801990G>C	ENST00000347755.5	-	7	1418	c.1277C>G	c.(1276-1278)aCc>aGc	p.T426S	PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Missense_Mutation_p.T426S	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					CTCCAGGTAGGTCTCCAGGTC	0.682																																																0													30	28	28					11																	801990		2197	4293	6490	SO:0001583	missense	55367																														ENST00000347755.5:c.1277C>G	chr11.hg19:g.801990G>C	ENSP00000337797:p.Thr426Ser			Missense_Mutation	SNP	ENST00000347755.5	hg19	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622155	0.46840	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.47869	0.94;0.83	4.03	3.06	0.35304	.	0.079208	0.49305	U	0.000151	T	0.50854	0.1640	L	0.29908	0.895	0.31516	N	0.662958	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.994;0.997	T	0.47086	-0.9144	10	0.12766	T	0.61	.	12.7861	0.57507	0.0:0.1651:0.8349:0.0	.	426;280;426	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	S	426	ENSP00000416801:T426S;ENSP00000337797:T426S	ENSP00000337797:T426S	T	-	2	0	PIDD	791990	0.997000	0.39634	0.994000	0.49952	0.123000	0.20343	3.663000	0.54518	2.084000	0.62774	0.462000	0.41574	ACC		0.682	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			C	801990	G	C	801990	3	2	1	1	0	0	0	0	1	0	0	0	8938	1261	44	4	1495	4	LRDD	11	801990	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10		801990	134204526	32	32											
OR56A4	120793	hgsc.bcm.edu	37	11	6023641	6023641	+	Silent	SNP	G	G	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr11:6023641G>A	ENST00000330728.4	-	1	783	c.738C>T	c.(736-738)gaC>gaT	p.D246D		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAAGTGATGTCATCACAAG	0.428																																																0													51	50	51					11																	6023641		2201	4296	6497	SO:0001819	synonymous_variant	120793			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.738C>T	chr11.hg19:g.6023641G>A			B9EH17	Silent	SNP	ENST00000330728.4	hg19	CCDS31404.1																																																																																				0.428	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		A	6023641	G	A	6023641	2	1	1	1	0	0	0	0	0	0	0	1	11137	1368	48	2		2	OR56A4	11	6023641	Silent	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	5221651	6023641	128982875	33	33											
TTC17	55761	hgsc.bcm.edu	37	11	43465612	43465612	+	Missense_Mutation	SNP	T	T	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr11:43465612T>C	ENST00000039989.4	+	18	2532	c.2518T>C	c.(2518-2520)Ttc>Ctc	p.F840L	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.F897L	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	840					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CCAGATTACATTCCAGGTCAA	0.373																																																0													79	78	78					11																	43465612		2203	4300	6503	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2518T>C	chr11.hg19:g.43465612T>C	ENSP00000039989:p.Phe840Leu		G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	hg19	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.032954	0.93575	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.46819	0.86;1.13	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	L	0.32530	0.975	0.58432	D	0.999996	D;D;D	0.71674	0.996;0.997;0.998	P;D;D	0.70716	0.817;0.97;0.911	T	0.48692	-0.9013	10	0.19147	T	0.46	-17.1985	14.9183	0.70815	0.0:0.0:0.0:1.0	.	897;840;897	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	L	897;840	ENSP00000299240:F897L;ENSP00000039989:F840L	ENSP00000039989:F840L	F	+	1	0	TTC17	43422188	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.394000	0.73223	2.266000	0.75297	0.454000	0.30748	TTC		0.373	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		C	43465612	T	C	43465612	3	2	1	1	0	0	0	0	1	0	0	0	16689	1493	52	3	2588	3	TTC17	11	43465612	Missense_Mutation	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10	37441971	43465612	91540904	34	34											
PRCP	5547	hgsc.bcm.edu	37	11	82535970	82535970	+	Missense_Mutation	SNP	T	T	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr11:82535970T>A	ENST00000313010.3	-	9	1663	c.1469A>T	c.(1468-1470)gAc>gTc	p.D490V	PRCP_ENST00000535099.1_Missense_Mutation_p.D385V|PRCP_ENST00000393399.2_Missense_Mutation_p.D511V|PRCP_ENST00000525772.1_5'Flank	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	490					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TCCCGCACTGTCATAGAAATC	0.403																																																0													65	63	64					11																	82535970		2203	4300	6503	SO:0001583	missense	5547			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1469A>T	chr11.hg19:g.82535970T>A	ENSP00000317362:p.Asp490Val		A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	hg19	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	T	8.923	0.961442	0.18583	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	T;T;T	0.23552	2.48;2.47;1.9	5.25	-5.04	0.02964	.	2.033150	0.01986	N	0.045194	T	0.08088	0.0202	N	0.02539	-0.55	0.09310	N	1	B;B	0.23249	0.082;0.045	B;B	0.19148	0.017;0.024	T	0.14559	-1.0468	9	.	.	.	5.135	2.3732	0.04336	0.1764:0.4213:0.1508:0.2516	.	490;511	P42785;A8MU24	PCP_HUMAN;.	V	490;511;385	ENSP00000317362:D490V;ENSP00000377055:D511V;ENSP00000442077:D385V	.	D	-	2	0	PRCP	82213618	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.032000	0.03574	-0.462000	0.06984	0.383000	0.25322	GAC		0.403	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		A	82535970	T	A	82535970	3	1	1	1	0	0	0	0	1	0	0	0	12454	1667	58	5	25	5	PRCP	11	82535970	Missense_Mutation	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10	39070358	82535970	52470546	35	35											
FAT3	120114	hgsc.bcm.edu	37	11	92615968	92615968	+	Missense_Mutation	SNP	G	G	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr11:92615968G>T	ENST00000298047.6	+	23	12363	c.12346G>T	c.(12346-12348)Gtg>Ttg	p.V4116L	FAT3_ENST00000409404.2_Missense_Mutation_p.V4116L|FAT3_ENST00000533797.1_Missense_Mutation_p.V451L|FAT3_ENST00000525166.1_Missense_Mutation_p.V3966L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4116	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCGTGAACGTGTTCGGCTC	0.632										TCGA Ovarian(4;0.039)																																						0													68	91	83					11																	92615968		2153	4240	6393	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12346G>T	chr11.hg19:g.92615968G>T	ENSP00000298047:p.Val4116Leu		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	hg19		.	.	.	.	.	.	.	.	.	.	G	15.96	2.986927	0.53934	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.91631	-1.36;-1.36;-1.36;-2.88	5.37	-3.0	0.05480	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.78400	0.4277	N	0.05608	-0.01	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.003;0.004	T	0.56631	-0.7947	9	0.26408	T	0.33	.	6.8066	0.23780	0.3084:0.3052:0.3864:0.0	.	4116;4116	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	4116;4116;3966;451	ENSP00000298047:V4116L;ENSP00000387040:V4116L;ENSP00000432586:V3966L;ENSP00000436399:V451L	ENSP00000298047:V4116L	V	+	1	0	FAT3	92255616	0.989000	0.36119	0.862000	0.33874	0.992000	0.81027	0.389000	0.20751	-0.491000	0.06697	0.655000	0.94253	GTG		0.632	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92615968	G	T	92615968	3	4	1	1	0	0	0	0	1	0	0	0	5693	1145	40	4	12436	4	FAT3	11	92615968	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	10079998	92615968	42390548	36	36											
AMOTL1	154810	hgsc.bcm.edu	37	11	94583286	94583286	+	Missense_Mutation	SNP	A	A	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr11:94583286A>C	ENST00000433060.2	+	7	1797	c.1656A>C	c.(1654-1656)gaA>gaC	p.E552D	AMOTL1_ENST00000317829.8_Missense_Mutation_p.E502D|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	552					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TAGACAAAGAATTCTTGAAGG	0.458																																																0													26	29	28					11																	94583286		1946	4149	6095	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1656A>C	chr11.hg19:g.94583286A>C	ENSP00000387739:p.Glu552Asp		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	hg19	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044077	0.75732	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	T;T	0.24723	1.84;1.84	5.82	0.784	0.18578	.	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	M	0.67625	2.065	0.80722	D	1	P;P	0.50710	0.938;0.887	D;P	0.66716	0.946;0.748	T	0.17961	-1.0352	10	0.52906	T	0.07	-23.6644	9.5207	0.39133	0.4586:0.0:0.5414:0.0	.	502;552	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	D	502;558;552	ENSP00000320968:E502D;ENSP00000387739:E552D	ENSP00000320968:E502D	E	+	3	2	AMOTL1	94222934	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.082000	0.30803	0.127000	0.18452	0.533000	0.62120	GAA		0.458	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		C	94583286	A	C	94583286	3	2	1	1	0	0	0	0	1	0	0	0	583	98	4	5	1682	5	AMOTL1	11	94583286	Missense_Mutation	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10	1967318	94583286	40423230	37	37											
VSIG2	23584	hgsc.bcm.edu	37	11	124620639	124620639	+	Missense_Mutation	SNP	C	C	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr11:124620639C>T	ENST00000326621.5	-	3	498	c.398G>A	c.(397-399)gGg>gAg	p.G133E	VSIG2_ENST00000403470.1_Missense_Mutation_p.G133E	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	133	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TAGCCCCAACCCATTGGTGTA	0.527																																																0													118	101	107					11																	124620639		2201	4299	6500	SO:0001583	missense	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.398G>A	chr11.hg19:g.124620639C>T	ENSP00000318684:p.Gly133Glu		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	hg19	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270140	0.80469	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.69435	-0.4;-0.4	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.72763	0.3501	L	0.31578	0.945	0.42787	D	0.993885	D	0.89917	1.0	D	0.97110	1.0	T	0.73487	-0.3967	10	0.46703	T	0.11	.	15.5135	0.75802	0.0:1.0:0.0:0.0	.	133	Q96IQ7	VSIG2_HUMAN	E	133	ENSP00000318684:G133E;ENSP00000385013:G133E	ENSP00000318684:G133E	G	-	2	0	VSIG2	124125849	0.993000	0.37304	0.991000	0.47740	0.996000	0.88848	4.302000	0.59092	2.640000	0.89533	0.655000	0.94253	GGG		0.527	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		T	124620639	C	T	124620639	3	4	1	1	0	0	0	0	1	0	0	0	17229	623	22	2	605	2	VSIG2	11	124620639	Missense_Mutation	SNP	C	TCGA-2K-A9WE-01A-11D-A382-10	30037353	124620639	10385877	38	38											
GPR162	27239	hgsc.bcm.edu	37	12	6933876	6933876	+	Missense_Mutation	SNP	A	A	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr12:6933876A>C	ENST00000311268.3	+	2	1599	c.812A>C	c.(811-813)aAc>aCc	p.N271T	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CAGGTCACCAACTTGGTCAGC	0.597																																																0													66	65	65					12																	6933876		2203	4300	6503	SO:0001583	missense	27239			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.812A>C	chr12.hg19:g.6933876A>C	ENSP00000311528:p.Asn271Thr		Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	hg19	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.439584	0.63067	.	.	ENSG00000250510	ENST00000311268	T	0.36340	1.26	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.34658	0.0905	N	0.19112	0.55	0.80722	D	1	D;D	0.63880	0.993;0.982	P;P	0.57846	0.828;0.762	T	0.05852	-1.0860	9	0.29301	T	0.29	.	8.8275	0.35063	0.9156:0.0:0.0844:0.0	.	271;271	B7Z3U3;Q16538	.;GP162_HUMAN	T	271	ENSP00000311528:N271T	ENSP00000311528:N271T	N	+	2	0	GPR162	6804137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.379000	0.79691	1.946000	0.56461	0.402000	0.26972	AAC		0.597	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		C	6933876	A	C	6933876	3	2	1	1	0	0	0	0	1	0	0	0	6668	43	2	5	833	5	GPR162	12	6933876	Missense_Mutation	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10		6933876	126918019	39	39											
PCNX	22990	hgsc.bcm.edu	37	14	71493571	71493571	+	Silent	SNP	A	A	G			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr14:71493571A>G	ENST00000304743.2	+	15	3884	c.3438A>G	c.(3436-3438)caA>caG	p.Q1146Q	PCNX_ENST00000238570.5_Silent_p.Q1146Q|PCNX_ENST00000439984.3_Silent_p.Q1035Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1146						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTGTGAACAATTGGATATTC	0.299																																																0													123	119	121					14																	71493571		2203	4298	6501	SO:0001819	synonymous_variant	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3438A>G	chr14.hg19:g.71493571A>G			B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	hg19	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	A	7.910	0.736201	0.15574	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.36	1.6	0.23607	.	.	.	.	.	T	0.57504	0.2058	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48736	-0.9009	4	.	.	.	.	9.0245	0.36220	0.6395:0.0:0.3605:0.0	.	.	.	.	S	205	.	.	N	+	2	0	PCNX	70563324	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	2.208000	0.42797	0.024000	0.15214	-1.054000	0.02325	AAT		0.299	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		G	71493571	A	G	71493571	2	3	1	1	0	0	0	0	0	0	0	1	11593	98	4	3		3	PCNX	14	71493571	Silent	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10		71493571	35855969	40	40											
CA12	771	hgsc.bcm.edu	37	15	63673897	63673897	+	Missense_Mutation	SNP	G	G	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr15:63673897G>C	ENST00000178638.3	-	1	463	c.23C>G	c.(22-24)gCg>gGg	p.A8G	CA12_ENST00000344366.3_Missense_Mutation_p.A8G|CA12_ENST00000422263.2_Missense_Mutation_p.A8G	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	8					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CACGGCCGCCGCGTGCAGGCT	0.692																																																0																																										SO:0001583	missense	771			AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"Carbonic anhydrases"	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.23C>G	chr15.hg19:g.63673897G>C	ENSP00000178638:p.Ala8Gly		B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	hg19	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289415	0.80914	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;D	0.82344	-0.5;-0.54;-1.6	4.49	3.56	0.40772	.	0.347063	0.26187	N	0.025829	T	0.73249	0.3563	L	0.29908	0.895	0.09310	N	1	B;B;B	0.19583	0.022;0.037;0.022	B;B;B	0.17979	0.009;0.02;0.009	T	0.67035	-0.5772	10	0.87932	D	0	.	10.5982	0.45352	0.0:0.1953:0.8047:0.0	.	8;8;8	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	G	8	ENSP00000178638:A8G;ENSP00000343088:A8G;ENSP00000403028:A8G	ENSP00000178638:A8G	A	-	2	0	CA12	61460950	0.004000	0.15560	0.030000	0.17652	0.720000	0.41350	0.577000	0.23758	1.207000	0.43291	-0.315000	0.08773	GCG		0.692	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		C	63673897	G	C	63673897	3	2	1	1	0	0	0	0	1	0	0	0	2515	1087	38	4	1085	4	CA12	15	63673897	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10		63673897	38857495	41	41											
HS3ST6	64711	hgsc.bcm.edu	37	16	1961626	1961626	+	Missense_Mutation	SNP	A	A	G			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr16:1961626A>G	ENST00000293937.3	-	2	993	c.994T>C	c.(994-996)Tac>Cac	p.Y332H	HS3ST6_ENST00000454677.2_Missense_Mutation_p.Y349H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.Y301H			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	332					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GTCATCTGGTAGAACCTGCGG	0.697																																																0													11	13	12					16																	1961626		2029	4191	6220	SO:0001583	missense	64711					16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.994T>C	chr16.hg19:g.1961626A>G	ENSP00000293937:p.Tyr332His		Q96RX7	Missense_Mutation	SNP	ENST00000293937.3	hg19		.	.	.	.	.	.	.	.	.	.	A	23.7	4.450374	0.84101	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	T;T	0.55760	0.5;0.5	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.76126	0.3944	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81562	-0.0876	10	0.87932	D	0	.	13.9056	0.63834	1.0:0.0:0.0:0.0	.	332	Q96QI5	HS3S6_HUMAN	H	332;301;371	ENSP00000293937:Y332H;ENSP00000390354:Y301H	ENSP00000293937:Y332H	Y	-	1	0	HS3ST6	1901627	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.233000	0.78125	1.890000	0.54733	0.414000	0.27820	TAC		0.697	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		G	1961626	A	G	1961626	3	3	1	1	0	0	0	0	1	0	0	0	7371	420	15	3	38	3	HS3ST6	16	1961626	Missense_Mutation	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10		1961626	88393127	42	42											
PRSS21	10942	hgsc.bcm.edu	37	16	2868817	2868817	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr16:2868817delA	ENST00000005995.3	+	4	439	c.397delA	c.(397-399)aatfs	p.N133fs	PRSS21_ENST00000450020.3_Frame_Shift_Del_p.N133fs|PRSS21_ENST00000455114.1_Frame_Shift_Del_p.N131fs			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	133	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CTACCTGGGGAATTCACCCTA	0.517																																																0													211	171	185					16																	2868817		2198	4300	6498	SO:0001589	frameshift_variant	10942			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.397delA	chr16.hg19:g.2868817delA	ENSP00000005995:p.Asn133fs		Q9NS34|Q9P2V6	Frame_Shift_Del	DEL	ENST00000005995.3	hg19	CCDS10478.1																																																																																				0.517	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		-	2868817	A	-	2868817	7	5	1	1	0	1	0	1	0	0	0	0	12623	246	9	0	411	0	PRSS21	16	2868817	Frame_Shift_Del	DEL	A	TCGA-2K-A9WE-01A-11D-A382-10	907191	2868817	87485936	43	43											
CHD9	80205	hgsc.bcm.edu	37	16	53326887	53326887	+	Silent	SNP	T	T	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr16:53326887T>C	ENST00000398510.3	+	28	5520	c.5433T>C	c.(5431-5433)ccT>ccC	p.P1811P	CHD9_ENST00000566029.1_Silent_p.P1811P|CHD9_ENST00000564845.1_Silent_p.P1811P|CHD9_ENST00000447540.1_Silent_p.P1811P			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1811					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTCGGTGCCTACCAGTGTAA	0.403																																																0													69	66	67					16																	53326887		1883	4114	5997	SO:0001819	synonymous_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5433T>C	chr16.hg19:g.53326887T>C			B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	hg19																																																																																					0.403	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		C	53326887	T	C	53326887	2	2	1	1	0	0	0	0	0	0	0	1	3334	1509	53	3		3	CHD9	16	53326887	Silent	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10	50458070	53326887	37027866	44	44											
USP10	9100	hgsc.bcm.edu	37	16	84796615	84796615	+	Silent	SNP	G	G	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr16:84796615G>A	ENST00000219473.7	+	9	1688	c.1575G>A	c.(1573-1575)gaG>gaA	p.E525E	USP10_ENST00000570191.1_Silent_p.E529E	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	525	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAGATGCTGAGGAATACTTAG	0.418																																																0													161	147	151					16																	84796615		1903	4126	6029	SO:0001819	synonymous_variant	9100			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1575G>A	chr16.hg19:g.84796615G>A			B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	hg19	CCDS45537.1																																																																																				0.418	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			A	84796615	G	A	84796615	2	1	1	1	0	0	0	0	0	0	0	1	17046	991	35	2		2	USP10	16	84796615	Silent	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	31469728	84796615	5558138	45	45											
CTNS	1497	hgsc.bcm.edu	37	17	3563995	3563995	+	3'UTR	SNP	T	T	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr17:3563995T>C	ENST00000046640.3	+	0	2029				CTNS_ENST00000441220.2_Silent_p.T282T|CTNS_ENST00000381870.3_Silent_p.T390T|RP11-235E17.6_ENST00000575741.1_RNA	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter						adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TGCCCCAAACTACCAGCGTTT	0.602																																																0													64	58	60					17																	3563995		2203	4300	6503	SO:0001624	3_prime_UTR_variant	1497			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.*332T>C	chr17.hg19:g.3563995T>C			D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	hg19	CCDS11031.1																																																																																				0.602	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		C	3563995	T	C	3563995	1	2	1	0	1	0	0	0	0	0	0	0	4023	1509	53	3		3	CTNS	17	3563995	3'UTR	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10		3563995	77631215	46	46											
NCOR1	9611	hgsc.bcm.edu	37	17	15961807	15961807	+	Silent	SNP	A	A	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr17:15961807A>C	ENST00000268712.3	-	38	6245	c.5988T>G	c.(5986-5988)gtT>gtG	p.V1996V	NCOR1_ENST00000395857.3_Silent_p.V580V|NCOR1_ENST00000395851.1_Silent_p.V1893V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1996	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTGCCTTAACAACCTCTGGCT	0.428																																																0													180	179	179					17																	15961807		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5988T>G	chr17.hg19:g.15961807A>C			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	hg19	CCDS11175.1																																																																																				0.428	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		C	15961807	A	C	15961807	2	2	1	1	0	0	0	0	0	0	0	1	10237	117	5	5		5	NCOR1	17	15961807	Silent	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10	12397812	15961807	65233403	47	47											
IKZF3	22806	hgsc.bcm.edu	37	17	37985676	37985676	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr17:37985676C>A	ENST00000346872.3	-	3	188	c.127G>T	c.(127-129)Gga>Tga	p.G43*	IKZF3_ENST00000377958.2_Nonsense_Mutation_p.G43*|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000377952.2_Nonsense_Mutation_p.G43*|IKZF3_ENST00000394189.2_Nonsense_Mutation_p.G43*|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000351680.3_Nonsense_Mutation_p.G43*|IKZF3_ENST00000350532.3_Nonsense_Mutation_p.G43*|IKZF3_ENST00000346243.3_Nonsense_Mutation_p.G43*|IKZF3_ENST00000467757.1_Nonsense_Mutation_p.G43*|IKZF3_ENST00000439016.2_Nonsense_Mutation_p.G43*|IKZF3_ENST00000377945.3_Nonsense_Mutation_p.G43*|IKZF3_ENST00000377944.3_Nonsense_Mutation_p.G43*	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	43					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGCCTTCTCCACTGTCCACA	0.403																																																0													182	147	159					17																	37985676		2203	4300	6503	SO:0001587	stop_gained	22806			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.127G>T	chr17.hg19:g.37985676C>A	ENSP00000344544:p.Gly43*		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Nonsense_Mutation	SNP	ENST00000346872.3	hg19	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850524	0.71719	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	.	.	.	5.41	1.04	0.20106	.	1.232630	0.05900	N	0.629846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	1.0311	7.3734	0.26815	0.0:0.611:0.0:0.389	.	.	.	.	X	43	.	ENSP00000341977:G43X	G	-	1	0	IKZF3	35239202	0.884000	0.30299	0.951000	0.38953	0.945000	0.59286	0.300000	0.19156	-0.019000	0.14055	-0.252000	0.11476	GGA		0.403	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		A	37985676	C	A	37985676	4	1	1	1	0	0	0	0	0	1	0	0	7618	603	21	4	1426	4	IKZF3	17	37985676	Nonsense_Mutation	SNP	C	TCGA-2K-A9WE-01A-11D-A382-10	22023869	37985676	43209534	48	48											
KRTAP4-5	85289	hgsc.bcm.edu	37	17	39305776	39305777	+	In_Frame_Ins	INS	-	-	GCAGCAGCTGGGGCG	rs146438235		TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr17:39305776_39305777insGCAGCAGCTGGGGCG	ENST00000343246.4	-	1	277_278	c.243_244insCGCCCCAGCTGCTGC	c.(241-246)tgccag>tgcCGCCCCAGCTGCTGCcag	p.80_81insCRPSC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	80	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].		C -> CCCRPS.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			caggtggtctggcagcagcagg	0.653																																																0																																										SO:0001652	inframe_insertion	85289			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.243_244insCGCCCCAGCTGCTGC	chr17.hg19:g.39305776_39305777insGCAGCAGCTGGGGCG	ENSP00000340546:p.Cys80_Cys81insCysArgProSerCys			In_Frame_Ins	INS	ENST00000343246.4	hg19	CCDS32650.1																																																																																				0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			GCAGCAGCTGGGGCG	39305777	-	GCAGCAGCTGGGGCG	39305776	7	5	1	1	0	1	1	0	0	0	0	0	8556	1357	47	0	305	0	KRTAP4-5	17	39305776	In_Frame_Ins	INS	-	TCGA-2K-A9WE-01A-11D-A382-10	1320100	39305776	41889434	49	49											
NGFR	4804	hgsc.bcm.edu	37	17	47590364	47590364	+	Missense_Mutation	SNP	C	C	T	rs574245308	byFrequency	TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr17:47590364C>T	ENST00000172229.3	+	6	1402	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L	NGFR_ENST00000504201.1_Missense_Mutation_p.P332L|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	426					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCACATCCCCGGTGTGAGCC	0.711													C|||	2	0.000399361	0.0	0.0	5008	,	,		11944	0.001		0.0	False		,,,				2504	0.001															0													8	9	8					17																	47590364		2175	4262	6437	SO:0001583	missense	4804			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1277C>T	chr17.hg19:g.47590364C>T	ENSP00000172229:p.Pro426Leu		B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	hg19	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417274	0.62622	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.90844	-2.67;-2.74	4.32	4.32	0.51571	.	0.567072	0.17745	N	0.163402	D	0.92384	0.7583	L	0.51422	1.61	0.53688	D	0.999973	D	0.76494	0.999	P	0.58970	0.849	D	0.91837	0.5480	10	0.42905	T	0.14	-22.1632	15.7498	0.77976	0.0:1.0:0.0:0.0	.	426	P08138	TNR16_HUMAN	L	426;332	ENSP00000172229:P426L;ENSP00000421731:P332L	ENSP00000172229:P426L	P	+	2	0	NGFR	44945363	1.000000	0.71417	0.911000	0.35937	0.910000	0.53928	4.158000	0.58150	2.233000	0.73108	0.561000	0.74099	CCG		0.711	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			T	47590364	C	T	47590364	3	4	1	1	0	0	0	0	1	0	0	0	10398	652	23	1	1299	1	NGFR	17	47590364	Missense_Mutation	SNP	C	TCGA-2K-A9WE-01A-11D-A382-10	8284588	47590364	33604846	50	50											
CLTC	1213	hgsc.bcm.edu	37	17	57754324	57754324	+	Silent	SNP	G	G	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr17:57754324G>C	ENST00000269122.3	+	17	2845	c.2571G>C	c.(2569-2571)ctG>ctC	p.L857L	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Silent_p.L857L|CLTC_ENST00000579815.1_3'UTR	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	857	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATTGAAACTGCTTCTGCCTT	0.403			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													42	45	44					17																	57754324		2203	4300	6503	SO:0001819	synonymous_variant	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2571G>C	chr17.hg19:g.57754324G>C			D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	hg19	CCDS32696.1																																																																																				0.403	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		C	57754324	G	C	57754324	2	2	1	1	0	0	0	0	0	0	0	1	3568	1306	46	4		4	CLTC	17	57754324	Silent	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	10163960	57754324	23440886	51	51											
HELZ	9931	hgsc.bcm.edu	37	17	65147177	65147177	+	Silent	SNP	A	A	G			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr17:65147177A>G	ENST00000358691.5	-	18	2507	c.2341T>C	c.(2341-2343)Ttg>Ctg	p.L781L	HELZ_ENST00000580168.1_Silent_p.L782L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	781						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCAAGGTCCAACTGACAGAGG	0.453																																																0													152	153	152					17																	65147177		1998	4160	6158	SO:0001819	synonymous_variant	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2341T>C	chr17.hg19:g.65147177A>G			I6L9H4	Silent	SNP	ENST00000358691.5	hg19	CCDS42374.1																																																																																				0.453	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		G	65147177	A	G	65147177	2	3	1	1	0	0	0	0	0	0	0	1	7051	40	2	3		3	HELZ	17	65147177	Silent	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10	7392853	65147177	16048033	52	52											
CEP192	55125	hgsc.bcm.edu	37	18	13068196	13068196	+	Missense_Mutation	SNP	C	C	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr18:13068196C>T	ENST00000325971.8	+	21	4523	c.2930C>T	c.(2929-2931)tCt>tTt	p.S977F	CEP192_ENST00000506447.1_Missense_Mutation_p.S1573F|CEP192_ENST00000430049.2_Missense_Mutation_p.S1098F			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	977					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGGCCCTTCTGTGGTCAAC	0.498																																																0													71	72	72					18																	13068196		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2930C>T	chr18.hg19:g.13068196C>T	ENSP00000317156:p.Ser977Phe		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	hg19		.	.	.	.	.	.	.	.	.	.	C	19.48	3.834805	0.71373	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.35421	1.31;1.31;1.31	5.37	5.37	0.77165	.	0.077917	0.53938	D	0.000059	T	0.62986	0.2473	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.64170	-0.6470	10	0.56958	D	0.05	-22.4154	19.4881	0.95039	0.0:1.0:0.0:0.0	.	1098;1573	C9JT09;E9PF99	.;.	F	1573;977;977;1098	ENSP00000427550:S1573F;ENSP00000317156:S977F;ENSP00000389190:S1098F	ENSP00000317156:S977F	S	+	2	0	CEP192	13058196	1.000000	0.71417	0.739000	0.30968	0.125000	0.20455	7.163000	0.77524	2.673000	0.90976	0.655000	0.94253	TCT		0.498	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		T	13068196	C	T	13068196	3	4	1	1	0	0	0	0	1	0	0	0	3253	913	32	2	4804	2	CEP192	18	13068196	Missense_Mutation	SNP	C	TCGA-2K-A9WE-01A-11D-A382-10		13068196	65009052	53	53											
LPPR3	79948	hgsc.bcm.edu	37	19	815758	815758	+	Missense_Mutation	SNP	G	G	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr19:815758G>T	ENST00000520876.3	-	3	247	c.169C>A	c.(169-171)Cgc>Agc	p.R57S	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.R57S	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		57						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										GAGAGAGTGCGGTCATAGCAC	0.617																																																0													76	53	61					19																	815758		2201	4299	6500	SO:0001583	missense	0																														ENST00000520876.3:c.169C>A	chr19.hg19:g.815758G>T	ENSP00000430297:p.Arg57Ser		Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	hg19	CCDS58636.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229444	0.58777	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876;ENST00000521445	T;T	0.49432	0.78;0.78	3.96	3.96	0.45880	.	0.000000	0.85682	U	0.000000	T	0.56702	0.2003	L	0.38692	1.165	0.44309	D	0.997188	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	T	0.55003	-0.8208	10	0.36615	T	0.2	-37.6464	13.5102	0.61508	0.0:0.0:1.0:0.0	.	57;57	Q6T4P5;Q6T4P5-3	LPPR3_HUMAN;.	S	57	ENSP00000352962:R57S;ENSP00000430297:R57S	ENSP00000300947:R57S	R	-	1	0	AC006273.1	766758	1.000000	0.71417	0.996000	0.52242	0.647000	0.38526	3.510000	0.53393	1.765000	0.52091	0.313000	0.20887	CGC		0.617	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			T	815758	G	T	815758	3	4	1	1	0	0	0	0	1	0	0	0	8928	1116	39	4	2091	4	LPPR3	19	815758	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10		815758	58313225	54	54											
FCGBP	8857	hgsc.bcm.edu	37	19	40366139	40366139	+	Missense_Mutation	SNP	A	A	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr19:40366139A>T	ENST00000221347.6	-	30	14102	c.14095T>A	c.(14095-14097)Tgc>Agc	p.C4699S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4699						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGAACTTGGCAGGCGTCCAGC	0.716																																																0													18	25	23					19																	40366139		2184	4262	6446	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14095T>A	chr19.hg19:g.40366139A>T	ENSP00000221347:p.Cys4699Ser		O95784	Missense_Mutation	SNP	ENST00000221347.6	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478498	0.63849	.	.	ENSG00000090920	ENST00000221347	D	0.83837	-1.77	4.32	4.32	0.51571	Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	U	0.000000	D	0.93848	0.8032	H	0.97540	4.025	0.45239	D	0.998249	D	0.89917	1.0	D	0.91635	0.999	D	0.95437	0.8522	10	0.87932	D	0	.	12.8687	0.57953	1.0:0.0:0.0:0.0	.	4699	Q9Y6R7	FCGBP_HUMAN	S	4699	ENSP00000221347:C4699S	ENSP00000221347:C4699S	C	-	1	0	FCGBP	45057979	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	6.590000	0.74085	1.940000	0.56252	0.254000	0.18369	TGC		0.716	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40366139	A	T	40366139	3	4	1	1	0	0	0	0	1	0	0	0	5780	188	7	5	2150	5	FCGBP	19	40366139	Missense_Mutation	SNP	A	TCGA-2K-A9WE-01A-11D-A382-10	39550381	40366139	18762844	55	55											
MEGF8	1954	hgsc.bcm.edu	37	19	42848184	42848184	+	Missense_Mutation	SNP	G	G	C			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr19:42848184G>C	ENST00000251268.6	+	10	1747	c.1747G>C	c.(1747-1749)Gcc>Ccc	p.A583P	MEGF8_ENST00000334370.4_Missense_Mutation_p.A583P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	583	PSI 1.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGCCAAGGAGCCTGCCAAGC	0.622																																																0													57	55	56					19																	42848184		2203	4300	6503	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1747G>C	chr19.hg19:g.42848184G>C	ENSP00000251268:p.Ala583Pro		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	hg19		.	.	.	.	.	.	.	.	.	.	G	18.31	3.595569	0.66219	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.22134	1.97;1.97	4.84	2.57	0.30868	.	0.720289	0.12870	N	0.432362	T	0.15696	0.0378	N	0.14661	0.345	0.80722	D	1	P;D	0.56968	0.828;0.978	B;P	0.50049	0.374;0.629	T	0.07635	-1.0762	10	0.39692	T	0.17	-12.3962	5.5022	0.16834	0.0943:0.0:0.5465:0.3592	.	583;583	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	P	583	ENSP00000334219:A583P;ENSP00000251268:A583P	ENSP00000251268:A583P	A	+	1	0	MEGF8	47540024	0.993000	0.37304	0.949000	0.38748	0.988000	0.76386	2.498000	0.45363	0.388000	0.25054	0.486000	0.48141	GCC		0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		C	42848184	G	C	42848184	3	2	1	1	0	0	0	0	1	0	0	0	9465	971	34	4	1785	4	MEGF8	19	42848184	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10	2482045	42848184	16280799	56	56											
ZNF235	9310	hgsc.bcm.edu	37	19	44792736	44792737	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr19:44792736_44792737insG	ENST00000291182.4	-	5	953_954	c.851_852insC	c.(850-852)gtafs	p.V284fs	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TTCCCAAGTGTACCTGTTTATG	0.431																																																0																																										SO:0001589	frameshift_variant	9310			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.851_852insC	chr19.hg19:g.44792736_44792737insG	ENSP00000291182:p.Val284fs		B4DTQ7|O14898|O14899|Q17RR8	Frame_Shift_Ins	INS	ENST00000291182.4	hg19	CCDS33048.1																																																																																				0.431	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			G	44792737	-	G	44792736	7	5	1	1	0	1	1	0	0	0	0	0	17793	1625	57	0	1368	0	ZNF235	19	44792736	Frame_Shift_Ins	INS	-	TCGA-2K-A9WE-01A-11D-A382-10	1944552	44792736	14336247	57	57											
LMTK3	114783	hgsc.bcm.edu	37	19	49002400	49002400	+	Silent	SNP	C	C	T			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr19:49002400C>T	ENST00000600059.1	-	11	2153	c.1926G>A	c.(1924-1926)gaG>gaA	p.E642E	LMTK3_ENST00000270238.3_Silent_p.E671E			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	642	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCTCCTCCTCCTCTTCTTCTT	0.741																																																0													4	4	4					19																	49002400		1578	3534	5112	SO:0001819	synonymous_variant	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1926G>A	chr19.hg19:g.49002400C>T			Q4G0U1	Silent	SNP	ENST00000600059.1	hg19																																																																																					0.741	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		T	49002400	C	T	49002400	2	4	1	1	0	0	0	0	0	0	0	1	8862	680	24	2		2	LMTK3	19	49002400	Silent	SNP	C	TCGA-2K-A9WE-01A-11D-A382-10	4209664	49002400	10126583	58	58											
ZNF606	80095	hgsc.bcm.edu	37	19	58490071	58490071	+	Missense_Mutation	SNP	T	T	G			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr19:58490071T>G	ENST00000341164.4	-	7	2597	c.1977A>C	c.(1975-1977)aaA>aaC	p.K659N	ZNF606_ENST00000536132.1_Missense_Mutation_p.K569N	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GACTGAAGGATTTTCCACATT	0.393																																																0													96	89	91					19																	58490071		2203	4300	6503	SO:0001583	missense	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1977A>C	chr19.hg19:g.58490071T>G	ENSP00000343617:p.Lys659Asn		A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	hg19	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654627	0.47467	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.27890	1.64;1.64	4.69	0.374	0.16183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.128450	0.35903	N	0.002912	T	0.50360	0.1611	M	0.78456	2.415	0.39034	D	0.959998	D	0.89917	1.0	D	0.91635	0.999	T	0.52586	-0.8556	10	0.87932	D	0	.	8.7437	0.34573	0.0:0.4376:0.0:0.5624	.	659	Q8WXB4	ZN606_HUMAN	N	659;569	ENSP00000343617:K659N;ENSP00000445624:K569N	ENSP00000343617:K659N	K	-	3	2	ZNF606	63181883	0.000000	0.05858	0.996000	0.52242	0.995000	0.86356	-0.162000	0.10012	0.089000	0.17243	0.459000	0.35465	AAA		0.393	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		G	58490071	T	G	58490071	3	3	1	1	0	0	0	0	1	0	0	0	18037	1490	52	5	405	5	ZNF606	19	58490071	Missense_Mutation	SNP	T	TCGA-2K-A9WE-01A-11D-A382-10	9487671	58490071	638912	59	59											
ZNF831	128611	hgsc.bcm.edu	37	20	57767752	57767752	+	Missense_Mutation	SNP	G	G	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr20:57767752G>A	ENST00000371030.2	+	1	1678	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	560							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCATCCCCGGGCCCTGGTCAG	0.701																																																0													6	8	7					20																	57767752		1848	3995	5843	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1678G>A	chr20.hg19:g.57767752G>A	ENSP00000360069:p.Ala560Thr		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411578	0.62399	.	.	ENSG00000124203	ENST00000371030	T	0.10005	2.92	5.21	4.25	0.50352	.	.	.	.	.	T	0.10508	0.0257	N	0.20401	0.57	0.28290	N	0.923571	P	0.52463	0.953	P	0.46543	0.52	T	0.06935	-1.0799	9	0.54805	T	0.06	-18.7895	12.2646	0.54670	0.0817:0.0:0.9183:0.0	.	560	Q5JPB2	ZN831_HUMAN	T	560	ENSP00000360069:A560T	ENSP00000360069:A560T	A	+	1	0	ZNF831	57201147	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.682000	0.46934	2.423000	0.82170	0.655000	0.94253	GCC		0.701	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57767752	G	A	57767752	3	1	1	1	0	0	0	0	1	0	0	0	18190	1203	42	2	1680	2	ZNF831	20	57767752	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10		57767752	5257768	60	60											
TUBGCP6	85378	hgsc.bcm.edu	37	22	50659180	50659180	+	Missense_Mutation	SNP	G	G	A			TCGA-2K-A9WE-01A-11D-A382-10	TCGA-2K-A9WE-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	85477ef3-5aed-4159-ab85-169a86151ec5	1b9c4eb6-95e2-490d-9d51-2d9ffc29a8ad	g.chr22:50659180G>A	ENST00000248846.5	-	16	3712	c.3608C>T	c.(3607-3609)tCa>tTa	p.S1203L	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.S1203L|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1203	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCCATGTCTGACACAGACTC	0.627																																																0													70	64	66					22																	50659180		2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3608C>T	chr22.hg19:g.50659180G>A	ENSP00000248846:p.Ser1203Leu		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	hg19	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	N	8.442	0.850991	0.17034	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.21361	2.58;2.01	4.54	-0.414	0.12359	.	0.636742	0.12976	N	0.423723	T	0.16385	0.0394	L	0.43923	1.385	0.32013	N	0.601856	B;B;B	0.32382	0.0;0.368;0.005	B;B;B	0.39339	0.003;0.297;0.004	T	0.36890	-0.9729	10	0.10111	T	0.7	.	6.3147	0.21184	0.2362:0.2907:0.4731:0.0	.	1195;1203;1203	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	L	1203	ENSP00000248846:S1203L;ENSP00000397387:S1203L	ENSP00000248846:S1203L	S	-	2	0	TUBGCP6	49001307	0.389000	0.25205	0.055000	0.19348	0.002000	0.02628	1.791000	0.38744	0.048000	0.15891	-0.290000	0.09829	TCA		0.627	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		A	50659180	G	A	50659180	3	1	1	1	0	0	0	0	1	0	0	0	16775	1294	45	2	1891	2	TUBGCP6	22	50659180	Missense_Mutation	SNP	G	TCGA-2K-A9WE-01A-11D-A382-10		50659180	645386	61	61											
CROCC	9696	hgsc.bcm.edu	37	1	17275371	17275371	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:17275371A>T	ENST00000375541.5	+	19	2855	c.2786A>T	c.(2785-2787)cAg>cTg	p.Q929L	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCCGGGAGCAGCTGGAAGCC	0.662																																																0													22	27	26					1																	17275371		2184	4253	6437	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2786A>T	chr1.hg19:g.17275371A>T	ENSP00000364691:p.Gln929Leu			Missense_Mutation	SNP	ENST00000375541.5	hg19	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656362	0.67586	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.26518	1.73	4.38	4.38	0.52667	.	.	.	.	.	T	0.34077	0.0885	M	0.82193	2.58	0.51233	D	0.99991	P;B	0.39250	0.665;0.354	B;B	0.39805	0.31;0.31	T	0.23048	-1.0199	9	0.36615	T	0.2	.	12.1806	0.54210	1.0:0.0:0.0:0.0	.	232;929	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	L	929;810	ENSP00000364691:Q929L	ENSP00000364691:Q929L	Q	+	2	0	CROCC	17147958	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.396000	0.66297	1.923000	0.55706	0.455000	0.32223	CAG		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		T	17275371	A	T	17275371	3	4	2	1	0	0	0	0	1	0	0	0	3895	188	7	5	2860	5	CROCC	1	17275371	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10		17275371	231975250	1	62											
SF3A3	10946	hgsc.bcm.edu	37	1	38435391	38435391	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:38435391G>C	ENST00000373019.4	-	13	1977	c.1022C>G	c.(1021-1023)aCt>aGt	p.T341S	SF3A3_ENST00000448721.2_Missense_Mutation_p.T288S	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	341					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTTTCATGAGTGAGATGTCG	0.423																																																0													123	111	115					1																	38435391		2203	4300	6503	SO:0001583	missense	10946			U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.1022C>G	chr1.hg19:g.38435391G>C	ENSP00000362110:p.Thr341Ser		D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	ENST00000373019.4	hg19	CCDS428.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.990064	0.93106	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.5	5.5	0.81552	Domain of unknown function DUF3449 (1);	0.044218	0.85682	D	0.000000	D	0.86360	0.5914	M	0.90425	3.115	0.80722	D	1	P;B	0.38048	0.616;0.003	P;B	0.53954	0.738;0.009	D	0.87158	0.2213	9	0.66056	D	0.02	-19.5305	19.7862	0.96440	0.0:0.0:1.0:0.0	.	288;341	E7EUT8;Q12874	.;SF3A3_HUMAN	S	341;288	.	ENSP00000362110:T341S	T	-	2	0	SF3A3	38207978	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	7.397000	0.79903	2.769000	0.95229	0.655000	0.94253	ACT		0.423	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		C	38435391	G	C	38435391	3	2	2	1	0	0	0	0	1	0	0	0	14154	1029	36	4	503	4	SF3A3	1	38435391	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	21160020	38435391	210815230	2	63											
GUCA2A	2980	hgsc.bcm.edu	37	1	42628612	42628612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:42628612C>A	ENST00000357001.2	-	3	318	c.313G>T	c.(313-315)Gaa>Taa	p.E105*		NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)	105						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	guanylate cyclase activator activity (GO:0030250)|hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCACAGATTTCACATGTGCCC	0.622																																																0													88	80	83					1																	42628612		2203	4300	6503	SO:0001587	stop_gained	2980			X74322	CCDS465.1	1p35-p34	2014-01-30			ENSG00000197273	ENSG00000197273		"Endogenous ligands"	4682	protein-coding gene	gene with protein product	"prepro-guanylin"	139392		GUCA2		1327879, 7892222	Standard	NM_033553		Approved	STARA	uc001chd.1	Q02747	OTTHUMG00000007023	ENST00000357001.2:c.313G>T	chr1.hg19:g.42628612C>A	ENSP00000349493:p.Glu105*			Nonsense_Mutation	SNP	ENST00000357001.2	hg19	CCDS465.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993331	0.54041	.	.	ENSG00000197273	ENST00000357001	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.47245	D	0.999365	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.087	12.9568	0.58432	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000349493:E105X	E	-	1	0	GUCA2A	42401199	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	3.575000	0.53870	2.440000	0.82611	0.561000	0.74099	GAA		0.622	GUCA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018306.1	NM_033553		A	42628612	C	A	42628612	4	1	2	1	0	0	0	0	0	1	0	0	6893	835	29	4	38	4	GUCA2A	1	42628612	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	4193221	42628612	206622009	3	64											
RAVER2	55225	hgsc.bcm.edu	37	1	65272954	65272954	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:65272954A>C	ENST00000294428.3	+	9	1555	c.1477A>C	c.(1477-1479)Aat>Cat	p.N493H	RAVER2_ENST00000371072.4_Missense_Mutation_p.N480H|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	493						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATTCTTTCCAAATCAGCACAT	0.468																																																0													47	45	45					1																	65272954		1934	4152	6086	SO:0001583	missense	55225			AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1477A>C	chr1.hg19:g.65272954A>C	ENSP00000294428:p.Asn493His		Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	hg19		.	.	.	.	.	.	.	.	.	.	A	6.507	0.461776	0.12342	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.34072	1.38;1.39	5.21	4.06	0.47325	.	0.485339	0.23981	N	0.042670	T	0.17408	0.0418	L	0.55481	1.735	0.80722	D	1	B	0.17667	0.023	B	0.18871	0.023	T	0.03268	-1.1054	10	0.33141	T	0.24	.	10.8402	0.46710	0.8422:0.1578:0.0:0.0	.	480	Q9HCJ3-2	.	H	480;493	ENSP00000360112:N480H;ENSP00000294428:N493H	ENSP00000294428:N493H	N	+	1	0	RAVER2	65045542	0.925000	0.31364	0.987000	0.45799	0.223000	0.24884	1.663000	0.37429	0.786000	0.33708	0.519000	0.50382	AAT		0.468	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		C	65272954	A	C	65272954	3	2	2	1	0	0	0	0	1	0	0	0	13101	14	1	5	1472	5	RAVER2	1	65272954	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	22644342	65272954	183977667	4	65											
ACADM	34	hgsc.bcm.edu	37	1	76200537	76200537	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:76200537C>A	ENST00000370841.4	+	6	886	c.449C>A	c.(448-450)aCt>aAt	p.T150N	ACADM_ENST00000370834.5_Missense_Mutation_p.T183N|ACADM_ENST00000541113.1_Missense_Mutation_p.T114N|ACADM_ENST00000420607.2_Missense_Mutation_p.T154N|ACADM_ENST00000543667.1_Intron	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	150					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	GGGAGAATGACTGAGGAGCCA	0.348																																																0			GRCh37	CD054289	ACADM	D							106	99	101					1																	76200537		2203	4300	6503	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.449C>A	chr1.hg19:g.76200537C>A	ENSP00000359878:p.Thr150Asn		Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	hg19	CCDS668.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100368	0.56183	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53	5.63	2.44	0.29823	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.368444	0.31772	N	0.007086	D	0.99348	0.9771	M	0.79343	2.45	0.80722	D	1	P;B;P;P;B	0.45212	0.523;0.368;0.853;0.453;0.368	B;P;P;B;P	0.57620	0.401;0.545;0.824;0.409;0.545	D	0.99709	1.1006	10	0.72032	D	0.01	.	9.3592	0.38186	0.0:0.697:0.0:0.303	.	114;64;183;154;150	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	N	150;183;114;154	ENSP00000359878:T150N;ENSP00000359871:T183N;ENSP00000442324:T114N;ENSP00000409612:T154N	ENSP00000359871:T183N	T	+	2	0	ACADM	75973125	0.395000	0.25254	0.998000	0.56505	0.837000	0.47467	0.937000	0.28951	0.609000	0.30018	0.655000	0.94253	ACT		0.348	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			A	76200537	C	A	76200537	3	1	2	1	0	0	0	0	1	0	0	0	113	565	20	4	483	4	ACADM	1	76200537	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	10927583	76200537	173050084	5	66											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144917856	144917856	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:144917856A>T	ENST00000369354.3	-	11	1619	c.1430T>A	c.(1429-1431)cTt>cAt	p.L477H	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L477H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.L264H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L477H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.L640H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L543H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L614H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L614H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L640H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L477H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	477					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCGCTGGCGAAGTTTCTCAAG	0.378			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													250	262	258					1																	144917856		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1430T>A	chr1.hg19:g.144917856A>T	ENSP00000358360:p.Leu477His		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163110	0.57476	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.76186	3.76;3.81;4.05;4.11;3.86;3.16;3.17;2.04;1.8;-1.0	5.78	5.78	0.91487	.	.	.	.	.	T	0.82006	0.4943	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.98;0.958;0.996;0.986;0.94	D	0.84469	0.0598	9	0.66056	D	0.02	.	14.0619	0.64804	1.0:0.0:0.0:0.0	.	640;264;477;640;543;477	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	543;477;477;640;614;614;477;477;640;640;264	ENSP00000327209:L543H;ENSP00000358360:L477H;ENSP00000358363:L477H;ENSP00000435654:L614H;ENSP00000358366:L614H;ENSP00000358357:L477H;ENSP00000358355:L477H;ENSP00000316434:L640H;ENSP00000433392:L640H;ENSP00000436791:L264H	ENSP00000327209:L543H	L	-	2	0	PDE4DIP	143629213	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.379000	0.79691	2.215000	0.71742	0.460000	0.39030	CTT		0.378	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144917856	A	T	144917856	3	4	2	1	0	0	0	0	1	0	0	0	11645	72	3	5	5756	5	PDE4DIP	1	144917856	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	68717319	144917856	104332765	6	67											
GPR89A	653519	hgsc.bcm.edu	37	1	145816732	145816732	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:145816732C>T	ENST00000313835.9	-	3	254	c.111G>A	c.(109-111)caG>caA	p.Q37Q	GPR89A_ENST00000462900.2_Silent_p.Q12Q|GPR89A_ENST00000454423.3_5'UTR|GPR89A_ENST00000534502.1_Silent_p.Q12Q			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	37					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GTACAACATACTGACGTATCT	0.368																																																0													14	15	15					1																	145816732		2081	4199	6280	SO:0001819	synonymous_variant	653519			AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.111G>A	chr1.hg19:g.145816732C>T			A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Silent	SNP	ENST00000313835.9	hg19	CCDS41377.1																																																																																				0.368	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2	NM_001097612		T	145816732	C	T	145816732	2	4	2	1	0	0	0	0	0	0	0	1	6720	564	20	2		2	GPR89A	1	145816732	Silent	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	898876	145816732	103433889	7	68											
NUP210L	91181	hgsc.bcm.edu	37	1	154067632	154067632	+	Splice_Site	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:154067632C>G	ENST00000368559.3	-	15	2037	c.1966G>C	c.(1966-1968)Gct>Cct	p.A656P	NUP210L_ENST00000271854.3_Splice_Site_p.A656P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	656					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGATTTAAAGCCTGATGATAT	0.393																																																0													54	53	53					1																	154067632		1840	4079	5919	SO:0001630	splice_region_variant	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1966-1G>C	chr1.hg19:g.154067632C>G			E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	hg19	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913031	0.52439	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.25579	1.79;1.79	5.49	5.49	0.81192	.	0.202371	0.34603	N	0.003823	T	0.32793	0.0841	L	0.40543	1.245	0.44652	D	0.997636	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.01476	-1.1345	10	0.32370	T	0.25	-33.2323	17.1608	0.86803	0.0:1.0:0.0:0.0	.	656;656	E7EP56;Q5VU65	.;P210L_HUMAN	P	656	ENSP00000357547:A656P;ENSP00000271854:A656P	ENSP00000271854:A656P	A	-	1	0	NUP210L	152334256	1.000000	0.71417	0.999000	0.59377	0.209000	0.24338	3.005000	0.49521	2.569000	0.86673	0.555000	0.69702	GCT		0.393	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	Missense_Mutation	G	154067632	C	G	154067632	5	3	2	1	0	0	0	0	0	0	1	0	10763	753	26	4	3804	4	NUP210L	1	154067632	Splice_Site	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	8250900	154067632	95182989	8	69											
NCF2	4688	hgsc.bcm.edu	37	1	183543737	183543737	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:183543737A>T	ENST00000367535.3	-	4	637	c.386T>A	c.(385-387)tTc>tAc	p.F129Y	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Missense_Mutation_p.F129Y|NCF2_ENST00000413720.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	129					aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GGCATACATGAAAGCAATGTT	0.438																																																0													188	171	177					1																	183543737		2203	4300	6503	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.386T>A	chr1.hg19:g.183543737A>T	ENSP00000356505:p.Phe129Tyr		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	hg19	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348077	0.82132	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000367535	T;T	0.65549	-0.16;-0.16	5.32	4.19	0.49359	Tetratricopeptide-like helical (1);	0.309294	0.36893	N	0.002350	T	0.58090	0.2098	L	0.36672	1.1	0.80722	D	1	P	0.41131	0.739	P	0.46076	0.503	T	0.60697	-0.7212	10	0.87932	D	0	-10.1463	11.0383	0.47816	0.9268:0.0:0.0732:0.0	.	129	P19878	NCF2_HUMAN	Y	129;157;129	ENSP00000356506:F129Y;ENSP00000356505:F129Y	ENSP00000356505:F129Y	F	-	2	0	NCF2	181810360	0.990000	0.36364	0.986000	0.45419	0.961000	0.63080	7.871000	0.87180	0.969000	0.38237	0.533000	0.62120	TTC		0.438	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		T	183543737	A	T	183543737	3	4	2	1	0	0	0	0	1	0	0	0	10219	246	9	5	1242	5	NCF2	1	183543737	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	29476105	183543737	65706884	9	70											
PRELP	5549	hgsc.bcm.edu	37	1	203452750	203452750	+	Silent	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr1:203452750G>T	ENST00000343110.2	+	2	565	c.438G>T	c.(436-438)ctG>ctT	p.L146L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	146					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAGGGTGCTGGAGAAACTGC	0.592																																																0													87	87	87					1																	203452750		2203	4300	6503	SO:0001819	synonymous_variant	5549			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.438G>T	chr1.hg19:g.203452750G>T			Q6FG38	Silent	SNP	ENST00000343110.2	hg19	CCDS1438.1																																																																																				0.592	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		T	203452750	G	T	203452750	2	4	2	1	0	0	0	0	0	0	0	1	12478	1335	47	4		4	PRELP	1	203452750	Silent	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	19909013	203452750	45797871	10	71											
PUM2	23369	hgsc.bcm.edu	37	2	20463043	20463043	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:20463043T>A	ENST00000361078.2	-	13	2158	c.2136A>T	c.(2134-2136)gaA>gaT	p.E712D	PUM2_ENST00000536417.1_Missense_Mutation_p.E656D|PUM2_ENST00000403432.1_Missense_Mutation_p.E712D|PUM2_ENST00000319801.5_Missense_Mutation_p.E633D|PUM2_ENST00000338086.5_Missense_Mutation_p.E712D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	712	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTGAAATCTTCCAATAATC	0.443																																																0													68	69	68					2																	20463043		2203	4300	6503	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2136A>T	chr2.hg19:g.20463043T>A	ENSP00000354370:p.Glu712Asp		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	hg19		.	.	.	.	.	.	.	.	.	.	T	14.84	2.655861	0.47467	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	L	0.50993	1.605	0.58432	D	0.999992	B;B;B;P	0.45594	0.001;0.04;0.068;0.862	B;B;B;P	0.56788	0.005;0.042;0.091;0.806	T	0.01290	-1.1394	10	0.39692	T	0.17	-15.117	8.3961	0.32557	0.0:0.146:0.0:0.854	.	656;633;712;712	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	D	712;712;633;524;712;656	ENSP00000338173:E712D;ENSP00000354370:E712D;ENSP00000326746:E633D;ENSP00000409905:E524D;ENSP00000385992:E712D;ENSP00000440093:E656D	ENSP00000326746:E633D	E	-	3	2	PUM2	20326524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.113000	0.41902	2.171000	0.68590	0.533000	0.62120	GAA		0.443	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		A	20463043	T	A	20463043	3	1	2	1	0	0	0	0	1	0	0	0	12832	1606	56	5	1090	5	PUM2	2	20463043	Missense_Mutation	SNP	T	TCGA-2Z-A9J1-01A-11D-A382-10		20463043	222736330	11	72											
DNMT3A	1788	hgsc.bcm.edu	37	2	25467157	25467158	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:25467157_25467158insG	ENST00000264709.3	-	15	2054_2055	c.1717_1718insC	c.(1717-1719)cagfs	p.Q573fs	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Frame_Shift_Ins_p.Q573fs|DNMT3A_ENST00000380746.4_Frame_Shift_Ins_p.Q384fs|DNMT3A_ENST00000402667.1_Frame_Shift_Ins_p.Q350fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	573	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.A572_A574del(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGGCTGCCTGGGCAGCCCCC	0.658			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)																																								SO:0001589	frameshift_variant	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1718dupC	chr2.hg19:g.25467160_25467160dupG	ENSP00000264709:p.Gln573fs		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Ins	INS	ENST00000264709.3	hg19	CCDS33157.1																																																																																				0.658	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		G	25467158	-	G	25467157	7	5	2	1	0	1	1	0	0	0	0	0	4678	1580	55	0	1056	0	DNMT3A	2	25467157	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J1-01A-11D-A382-10	5004114	25467157	217732216	12	73											
SLC8A1	6546	hgsc.bcm.edu	37	2	40387976	40387976	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:40387976G>T	ENST00000403092.1	-	9	2231	c.2198C>A	c.(2197-2199)aCa>aAa	p.T733K	SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T733K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T697K|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T728K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T728K|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T697K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T697K|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T697K|SLC8A1_ENST00000406785.2_Missense_Mutation_p.T697K|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T725K|SLC8A1-AS1_ENST00000597385.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	733					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGCCAGGTTTGTCTTCTTAAT	0.413																																																0													133	128	130					2																	40387976		2203	4300	6503	SO:0001583	missense	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2198C>A	chr2.hg19:g.40387976G>T	ENSP00000384763:p.Thr733Lys		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	hg19	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762222	0.69763	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.30448	1.56;1.57;1.58;1.57;1.56;1.56;1.58;1.53;1.56;1.56	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	M	0.72479	2.2	0.80722	D	1	D;D;P;P	0.57899	0.96;0.981;0.57;0.893	P;P;B;B	0.61397	0.888;0.604;0.274;0.344	T	0.51957	-0.8639	10	0.56958	D	0.05	.	17.4714	0.87647	0.0:0.0:1.0:0.0	.	697;720;728;733	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	K	697;733;728;733;728;697;697;733;725;720;697;697	ENSP00000383886:T697K;ENSP00000440727:T728K;ENSP00000384763:T733K;ENSP00000385678:T728K;ENSP00000385188:T697K;ENSP00000385535:T697K;ENSP00000332931:T733K;ENSP00000384908:T725K;ENSP00000385811:T697K;ENSP00000443515:T697K	ENSP00000332931:T733K	T	-	2	0	SLC8A1	40241480	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.498000	0.97972	2.788000	0.95919	0.650000	0.86243	ACA		0.413	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		T	40387976	G	T	40387976	3	4	2	1	0	0	0	0	1	0	0	0	14712	1377	48	4	735	4	SLC8A1	2	40387976	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	14920819	40387976	202811397	13	74											
ZFP36L2	678	hgsc.bcm.edu	37	2	43451900	43451925	+	Frame_Shift_Del	DEL	GCCCCCGGCGCCAGCAGGTCCTCGGC	GCCCCCGGCGCCAGCAGGTCCTCGGC	-	rs1050381		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	GCCCCCGGCGCCAGCAGGTCCTCGGC	GCCCCCGGCGCCAGCAGGTCCTCGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:43451900_43451925delGCCCCCGGCGCCAGCAGGTCCTCGGC	ENST00000282388.3	-	2	1311_1336	c.1018_1043delGCCGAGGACCTGCTGGCGCCGGGGGC	c.(1018-1044)gccgaggacctgctggcgccgggggccfs	p.AEDLLAPGA340fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	340					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGCGCACGGGGCCCCCGGCGCCAGCAGGTCCTCGGCGCCCCCGGTG	0.77																																																0																																										SO:0001589	frameshift_variant	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.1018_1043delGCCGAGGACCTGCTGGCGCCGGGGGC	chr2.hg19:g.43451900_43451925delGCCCCCGGCGCCAGCAGGTCCTCGGC	ENSP00000282388:p.Ala340fs		Q53TB4|Q9BSJ3	Frame_Shift_Del	DEL	ENST00000282388.3	hg19	CCDS1811.1																																																																																				0.77	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		-	43451925	GCCCCCGGCGCCAGCAGGTCCTCGGC	-	43451900	7	5	2	1	0	1	0	1	0	0	0	0	17652	1203	42	0	445	0	ZFP36L2	2	43451900	Frame_Shift_Del	DEL	GCCCCCGGCGCCAGCAGGTCCTCGGC	TCGA-2Z-A9J1-01A-11D-A382-10	3063924	43451900	199747473	14	75											
SPTBN1	6711	hgsc.bcm.edu	37	2	54839382	54839392	+	Frame_Shift_Del	DEL	CATCTTGAGAA	CATCTTGAGAA	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	CATCTTGAGAA	CATCTTGAGAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:54839382_54839392delCATCTTGAGAA	ENST00000356805.4	+	4	666_676	c.385_395delCATCTTGAGAA	c.(385-396)catcttgagaacfs	p.HLEN129fs	SPTBN1_ENST00000333896.5_Frame_Shift_Del_p.HLEN116fs	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	129	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCAGAGAGTCCATCTTGAGAACATGGGGTCC	0.555																																																0																																										SO:0001589	frameshift_variant	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.385_395delCATCTTGAGAA	chr2.hg19:g.54839382_54839392delCATCTTGAGAA	ENSP00000349259:p.His129fs		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Frame_Shift_Del	DEL	ENST00000356805.4	hg19	CCDS33198.1																																																																																				0.555	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			-	54839392	CATCTTGAGAA	-	54839382	7	5	2	1	0	1	0	1	0	0	0	0	15124	594	21	0	508	0	SPTBN1	2	54839382	Frame_Shift_Del	DEL	CATCTTGAGAA	TCGA-2Z-A9J1-01A-11D-A382-10	11387482	54839382	188359991	15	76											
GFPT1	2673	hgsc.bcm.edu	37	2	69575353	69575353	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:69575353G>T	ENST00000357308.4	-	11	1137	c.959C>A	c.(958-960)cCc>cAc	p.P320H	GFPT1_ENST00000361060.5_Missense_Mutation_p.P302H	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	320	Isomerase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						AGCTCGTCCGGGGTGATCTCC	0.453																																																0													170	155	160					2																	69575353		2203	4300	6503	SO:0001583	missense	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.959C>A	chr2.hg19:g.69575353G>T	ENSP00000349860:p.Pro320His		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	hg19	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693268	0.48202	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.44083	0.95;0.93	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	N	0.01446	-0.86	0.80722	D	1	P	0.48162	0.906	P	0.61592	0.891	T	0.52457	-0.8573	10	0.27082	T	0.32	-14.1203	18.5685	0.91126	0.0:0.0:1.0:0.0	.	302	Q06210-2	.	H	320;302	ENSP00000349860:P320H;ENSP00000354347:P302H	ENSP00000349860:P320H	P	-	2	0	GFPT1	69428857	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.613000	0.98350	2.861000	0.98227	0.655000	0.94253	CCC		0.453	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	69575353	G	T	69575353	3	4	2	1	0	0	0	0	1	0	0	0	6347	1232	43	4	1180	4	GFPT1	2	69575353	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	14735971	69575353	173624020	16	77											
TMEM87B	84910	hgsc.bcm.edu	37	2	112858240	112858240	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr2:112858240T>A	ENST00000283206.4	+	15	1787	c.1418T>A	c.(1417-1419)aTt>aAt	p.I473N	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	473						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GATGATGAAATTGAGGAATTC	0.294																																																0													92	94	93					2																	112858240		2202	4290	6492	SO:0001583	missense	84910			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1418T>A	chr2.hg19:g.112858240T>A	ENSP00000283206:p.Ile473Asn		A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	hg19	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977833	0.53720	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.85	4.68	0.58851	.	0.677566	0.15093	N	0.280964	T	0.41766	0.1173	N	0.19112	0.55	0.40147	D	0.976904	B	0.02656	0.0	B	0.06405	0.002	T	0.18777	-1.0326	9	0.32370	T	0.25	-5.7707	10.6417	0.45596	0.1437:0.0:0.0:0.8563	.	473	Q96K49	TM87B_HUMAN	N	473	.	ENSP00000283206:I473N	I	+	2	0	TMEM87B	112574711	1.000000	0.71417	0.920000	0.36463	0.996000	0.88848	2.567000	0.45956	1.013000	0.39391	0.528000	0.53228	ATT		0.294	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824		A	112858240	T	A	112858240	3	1	2	1	0	0	0	0	1	0	0	0	16216	1493	52	5	1476	5	TMEM87B	2	112858240	Missense_Mutation	SNP	T	TCGA-2Z-A9J1-01A-11D-A382-10	43282887	112858240	130341133	17	78											
PDCD6IP	10015	hgsc.bcm.edu	37	3	33894165	33894165	+	Silent	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr3:33894165A>G	ENST00000307296.3	+	13	2204	c.1827A>G	c.(1825-1827)ggA>ggG	p.G609G	PDCD6IP_ENST00000457054.2_Silent_p.G614G			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	609	Interaction with EIAV p9.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GAGTCTATGGAGGTCTTACAA	0.338																																																0													14	15	14					3																	33894165		1895	4059	5954	SO:0001819	synonymous_variant	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1827A>G	chr3.hg19:g.33894165A>G			C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	ENST00000307296.3	hg19	CCDS2660.1																																																																																				0.338	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			G	33894165	A	G	33894165	2	3	2	1	0	0	0	0	0	0	0	1	11626	291	11	3		3	PDCD6IP	3	33894165	Silent	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10		33894165	164128265	18	79											
SCAP	22937	hgsc.bcm.edu	37	3	47476560	47476560	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr3:47476560A>T	ENST00000265565.5	-	3	602	c.190T>A	c.(190-192)Tac>Aac	p.Y64N	SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	64					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGGGGCGAGTAATCCTTCACA	0.547																																					Pancreas(149;978 1908 29304 37806 46700)											0													103	99	100					3																	47476560		2203	4300	6503	SO:0001583	missense	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.190T>A	chr3.hg19:g.47476560A>T	ENSP00000265565:p.Tyr64Asn		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	hg19	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649395	0.67358	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603;ENST00000448217	D	0.82167	-1.58	5.13	3.97	0.46021	.	0.000000	0.64402	D	0.000001	T	0.82024	0.4947	M	0.64997	1.995	0.80722	D	1	D	0.57257	0.979	P	0.46275	0.51	T	0.82692	-0.0331	10	0.87932	D	0	-23.869	10.7326	0.46107	0.9242:0.0:0.0758:0.0	.	64	Q12770	SCAP_HUMAN	N	64	ENSP00000265565:Y64N	ENSP00000265565:Y64N	Y	-	1	0	SCAP	47451564	1.000000	0.71417	0.976000	0.42696	0.491000	0.33493	8.686000	0.91250	0.968000	0.38212	0.379000	0.24179	TAC		0.547	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		T	47476560	A	T	47476560	3	4	2	1	0	0	0	0	1	0	0	0	13883	362	13	5	3733	5	SCAP	3	47476560	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	13582395	47476560	150545870	19	80											
APOD	347	hgsc.bcm.edu	37	3	195295856	195295856	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr3:195295856G>A	ENST00000343267.3	-	5	846	c.485C>T	c.(484-486)tCt>tTt	p.S162F		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	162					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		ATTTTTTAGAGAGTCCACTGT	0.453																																																0													159	162	161					3																	195295856		2203	4300	6503	SO:0001583	missense	347				CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"Lipocalins", "Apolipoproteins"	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.485C>T	chr3.hg19:g.195295856G>A	ENSP00000345179:p.Ser162Phe		B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	ENST00000343267.3	hg19	CCDS33925.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.646465	0.00792	.	.	ENSG00000189058	ENST00000343267;ENST00000421243	T;T	0.31247	1.5;1.5	6.06	3.67	0.42095	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.835345	0.11357	N	0.572291	T	0.14442	0.0349	N	0.05534	-0.03	0.09310	N	1	B	0.13145	0.007	B	0.17433	0.018	T	0.36890	-0.9729	10	0.13108	T	0.6	-1.0985	6.7986	0.23738	0.1584:0.0:0.1521:0.6895	.	162	P05090	APOD_HUMAN	F	162;190	ENSP00000345179:S162F;ENSP00000415235:S190F	ENSP00000345179:S162F	S	-	2	0	APOD	196777145	0.001000	0.12720	0.022000	0.16811	0.040000	0.13550	1.156000	0.31712	0.513000	0.28278	-1.551000	0.00897	TCT		0.453	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647		A	195295856	G	A	195295856	3	1	2	1	0	0	0	0	1	0	0	0	801	942	33	2	88	2	APOD	3	195295856	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	147819296	195295856	2726574	20	81											
SEL1L3	23231	hgsc.bcm.edu	37	4	25785855	25785855	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr4:25785855A>T	ENST00000399878.3	-	14	2397	c.2275T>A	c.(2275-2277)Tcc>Acc	p.S759T	SEL1L3_ENST00000264868.5_Missense_Mutation_p.S724T|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S606T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	759						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTTACCTTGGAAGCTGCTTTC	0.448																																																0													219	220	220					4																	25785855		2029	4181	6210	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2275T>A	chr4.hg19:g.25785855A>T	ENSP00000382767:p.Ser759Thr		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	hg19	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077669	0.36662	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.51574	0.7;0.7;0.7	5.58	4.35	0.52113	Tetratricopeptide-like helical (1);	0.265568	0.36303	N	0.002662	T	0.28167	0.0695	N	0.08118	0	0.29071	N	0.883281	B;P	0.39424	0.08;0.673	B;B	0.37550	0.098;0.253	T	0.21008	-1.0258	10	0.44086	T	0.13	-8.4038	13.1165	0.59303	0.7915:0.2085:0.0:0.0	.	166;759	B4DTH5;Q68CR1	.;SE1L3_HUMAN	T	759;724;606	ENSP00000382767:S759T;ENSP00000264868:S724T;ENSP00000425438:S606T	ENSP00000264868:S724T	S	-	1	0	SEL1L3	25394953	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.145000	0.31577	2.136000	0.66102	0.454000	0.30748	TCC		0.448	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		T	25785855	A	T	25785855	3	4	2	1	0	0	0	0	1	0	0	0	14018	246	9	5	1167	5	SEL1L3	4	25785855	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10		25785855	165368421	21	82											
ANKRD50	57182	hgsc.bcm.edu	37	4	125591071	125591071	+	Missense_Mutation	SNP	G	G	T	rs143672935		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr4:125591071G>T	ENST00000504087.1	-	4	4398	c.3361C>A	c.(3361-3363)Cta>Ata	p.L1121I	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L942I	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1121										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AATGACTGTAGAGGTTTTTGC	0.383																																																0													117	114	115					4																	125591071		2203	4300	6503	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3361C>A	chr4.hg19:g.125591071G>T	ENSP00000425658:p.Leu1121Ile		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	hg19	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565272	0.27915	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.69040	-0.37;-0.34	5.19	4.26	0.50523	.	0.159771	0.42420	D	0.000714	T	0.41994	0.1183	N	0.14661	0.345	0.27106	N	0.962509	B	0.23058	0.079	B	0.20384	0.029	T	0.09314	-1.0680	10	0.25751	T	0.34	.	4.2251	0.10577	0.2905:0.0:0.7095:0.0	.	1121	Q9ULJ7	ANR50_HUMAN	I	1121;942	ENSP00000425658:L1121I;ENSP00000425355:L942I	ENSP00000425658:L1121I	L	-	1	2	ANKRD50	125810521	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	5.349000	0.66010	2.698000	0.92095	0.561000	0.74099	CTA		0.383	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		T	125591071	G	T	125591071	3	4	2	1	0	0	0	0	1	0	0	0	677	933	33	4	932	4	ANKRD50	4	125591071	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	99805216	125591071	65563205	22	83											
CLCN3	1182	hgsc.bcm.edu	37	4	170613433	170613433	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr4:170613433delT	ENST00000513761.1	+	7	1457	c.898delT	c.(898-900)tttfs	p.F300fs	CLCN3_ENST00000504131.2_Frame_Shift_Del_p.F283fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.F300fs|CLCN3_ENST00000347613.4_Frame_Shift_Del_p.F300fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	300					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTCCTACCTCTTTCCAAAGTA	0.358																																																0													140	138	139					4																	170613433		2203	4300	6503	SO:0001589	frameshift_variant	1182			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.898delT	chr4.hg19:g.170613433delT	ENSP00000424603:p.Phe300fs		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Frame_Shift_Del	DEL	ENST00000513761.1	hg19	CCDS34101.1																																																																																				0.358	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			-	170613433	T	-	170613433	7	5	2	1	0	1	0	1	0	0	0	0	3466	1609	56	0	920	0	CLCN3	4	170613433	Frame_Shift_Del	DEL	T	TCGA-2Z-A9J1-01A-11D-A382-10	45022362	170613433	20540843	23	84											
C6	729	hgsc.bcm.edu	37	5	41199944	41199944	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:41199944A>T	ENST00000263413.3	-	4	635	c.371T>A	c.(370-372)tTt>tAt	p.F124Y	C6_ENST00000337836.5_Missense_Mutation_p.F124Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	124	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCATGGTTGAAAGGCTACCAG	0.428																																																0													107	103	104					5																	41199944		2203	4300	6503	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.371T>A	chr5.hg19:g.41199944A>T	ENSP00000263413:p.Phe124Tyr			Missense_Mutation	SNP	ENST00000263413.3	hg19	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696782	0.30142	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.54866	0.55;0.55;0.55	6.02	-2.3	0.06785	.	0.396912	0.30620	N	0.009226	T	0.39253	0.1071	L	0.50333	1.59	0.20926	N	0.999822	B	0.12013	0.005	B	0.13407	0.009	T	0.29518	-1.0009	10	0.49607	T	0.09	-9.092	7.3592	0.26737	0.265:0.0:0.5786:0.1564	.	124	P13671	CO6_HUMAN	Y	124	ENSP00000338861:F124Y;ENSP00000263413:F124Y;ENSP00000396565:F124Y	ENSP00000263413:F124Y	F	-	2	0	C6	41235701	0.990000	0.36364	0.821000	0.32701	0.114000	0.19823	0.769000	0.26604	-0.309000	0.08779	-0.924000	0.02725	TTT		0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			T	41199944	A	T	41199944	3	4	2	1	0	0	0	0	1	0	0	0	2317	14	1	5	2493	5	C6	5	41199944	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10		41199944	139715316	24	85											
SGTB	54557	hgsc.bcm.edu	37	5	65000107	65000107	+	Splice_Site	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:65000107T>A	ENST00000381007.4	-	5	608	c.373A>T	c.(373-375)Agg>Tgg	p.R125W		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	125										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CTAGTTTACCTGTTGCAATAG	0.328																																																0													123	114	117					5																	65000107		2202	4300	6502	SO:0001630	splice_region_variant	54557			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.374+1A>T	chr5.hg19:g.65000107T>A				Missense_Mutation	SNP	ENST00000381007.4	hg19	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.563251	0.86335	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.65178	-0.14;-0.14	5.56	4.33	0.51752	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90322	0.4345	10	0.87932	D	0	-13.1767	11.4293	0.50029	0.0:0.0:0.1509:0.8491	.	125	Q96EQ0	SGTB_HUMAN	W	125	ENSP00000370395:R125W;ENSP00000421447:R125W	ENSP00000370395:R125W	R	-	1	2	SGTB	65035863	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.100000	0.64560	2.110000	0.64415	0.533000	0.62120	AGG		0.328	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072	Missense_Mutation	A	65000107	T	A	65000107	5	1	2	1	0	0	0	0	0	0	1	0	14232	1594	55	5	569	5	SGTB	5	65000107	Splice_Site	SNP	T	TCGA-2Z-A9J1-01A-11D-A382-10	23800163	65000107	115915153	25	86											
MAP1B	4131	hgsc.bcm.edu	37	5	71490573	71490573	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:71490573C>G	ENST00000296755.7	+	5	1689	c.1391C>G	c.(1390-1392)tCc>tGc	p.S464C		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	464					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCCCGATTTCCTACTTAACT	0.453																																					Melanoma(17;367 822 11631 31730 47712)											0													93	94	94					5																	71490573		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1391C>G	chr5.hg19:g.71490573C>G	ENSP00000296755:p.Ser464Cys		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882436	0.51908	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.04194	3.68;3.68;3.68	5.63	5.63	0.86233	.	0.103851	0.43416	D	0.000571	T	0.09202	0.0227	L	0.43152	1.355	0.53688	D	0.999972	D;P	0.56287	0.975;0.948	P;P	0.48901	0.594;0.514	T	0.01096	-1.1453	10	0.87932	D	0	-6.3887	14.5221	0.67856	0.1465:0.8535:0.0:0.0	.	338;464	A2BDK6;P46821	.;MAP1B_HUMAN	C	464;481;338	ENSP00000296755:S464C;ENSP00000423444:S481C;ENSP00000423416:S338C	ENSP00000296755:S464C	S	+	2	0	MAP1B	71526329	1.000000	0.71417	0.998000	0.56505	0.678000	0.39670	4.720000	0.61944	2.644000	0.89710	0.563000	0.77884	TCC		0.453	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		G	71490573	C	G	71490573	3	3	2	1	0	0	0	0	1	0	0	0	9230	855	30	4	1409	4	MAP1B	5	71490573	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	6490466	71490573	109424687	26	87											
IQGAP2	10788	hgsc.bcm.edu	37	5	75960919	75960919	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:75960919C>T	ENST00000274364.6	+	22	2895	c.2598C>T	c.(2596-2598)acC>acT	p.T866T	IQGAP2_ENST00000502745.1_Silent_p.T362T|IQGAP2_ENST00000379730.3_Silent_p.T368T|IQGAP2_ENST00000396234.3_Silent_p.T362T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	866					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGAATAACACCGACAACCAAG	0.323																																																0													121	116	118					5																	75960919		2203	4300	6503	SO:0001819	synonymous_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2598C>T	chr5.hg19:g.75960919C>T			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	hg19	CCDS34188.1																																																																																				0.323	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		T	75960919	C	T	75960919	2	4	2	1	0	0	0	0	0	0	0	1	7817	639	23	1		1	IQGAP2	5	75960919	Silent	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	4470346	75960919	104954341	27	88											
ARSB	411	hgsc.bcm.edu	37	5	78135234	78135234	+	Silent	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:78135234G>A	ENST00000264914.4	-	6	1694	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	ARSB_ENST00000565165.1_Silent_p.S386S|ARSB_ENST00000396151.3_Silent_p.S386S	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	386					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CAATTCTGGGGGATGGGCTTC	0.403																																					Melanoma(169;563 1968 25780 26156 52266)											0													121	122	122					5																	78135234		2203	4300	6503	SO:0001819	synonymous_variant	411			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1158C>T	chr5.hg19:g.78135234G>A			B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	hg19	CCDS4043.1																																																																																				0.403	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		A	78135234	G	A	78135234	2	1	2	1	0	0	0	0	0	0	0	1	988	1219	43	2		2	ARSB	5	78135234	Silent	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	2174315	78135234	102780026	28	89											
ARRDC3	57561	hgsc.bcm.edu	37	5	90669556	90669556	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:90669556G>T	ENST00000265138.3	-	7	1399	c.1133C>A	c.(1132-1134)cCa>cAa	p.P378Q	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	378					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TGCAAACAGTGGTCCTTGAAG	0.463																																																0													180	157	165					5																	90669556		2203	4300	6503	SO:0001583	missense	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1133C>A	chr5.hg19:g.90669556G>T	ENSP00000265138:p.Pro378Gln		A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	hg19	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835200	0.91117	.	.	ENSG00000113369	ENST00000265138	T	0.10668	2.85	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	M	0.73962	2.25	0.80722	D	1	P	0.48911	0.917	B	0.38655	0.278	T	0.02173	-1.1201	10	0.49607	T	0.09	-11.4537	20.1986	0.98248	0.0:0.0:1.0:0.0	.	378	Q96B67	ARRD3_HUMAN	Q	378	ENSP00000265138:P378Q	ENSP00000265138:P378Q	P	-	2	0	ARRDC3	90705312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.881000	0.87252	2.781000	0.95711	0.650000	0.86243	CCA		0.463	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		T	90669556	G	T	90669556	3	4	2	1	0	0	0	0	1	0	0	0	984	1348	47	4	119	4	ARRDC3	5	90669556	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	12534322	90669556	90245704	29	90											
GRIA1	2890	hgsc.bcm.edu	37	5	153144063	153144063	+	Silent	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:153144063A>G	ENST00000285900.5	+	12	2236	c.1893A>G	c.(1891-1893)acA>acG	p.T631T	GRIA1_ENST00000448073.4_Silent_p.T641T|GRIA1_ENST00000518142.1_Silent_p.T551T|GRIA1_ENST00000521843.2_Silent_p.T562T|GRIA1_ENST00000340592.5_Silent_p.T631T|GRIA1_ENST00000518783.1_Silent_p.T641T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	631					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCTCATATACAGCCAATCTGG	0.562																																																0													130	110	117					5																	153144063		2203	4300	6503	SO:0001819	synonymous_variant	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1893A>G	chr5.hg19:g.153144063A>G			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	hg19	CCDS4322.1																																																																																				0.562	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			G	153144063	A	G	153144063	2	3	2	1	0	0	0	0	0	0	0	1	6769	175	7	3		3	GRIA1	5	153144063	Silent	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	62474507	153144063	27771197	30	91											
ADAM19	8728	hgsc.bcm.edu	37	5	156915305	156915305	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:156915305T>G	ENST00000517905.1	-	21	2562	c.2518A>C	c.(2518-2520)Att>Ctt	p.I840L	ADAM19_ENST00000394020.1_Missense_Mutation_p.I842L|ADAM19_ENST00000257527.4_Missense_Mutation_p.I840L|ADAM19_ENST00000430702.2_Missense_Mutation_p.I573L			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	840					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGGGGGGAATTGGCCGGCTT	0.567																																																0													94	100	98					5																	156915305		2203	4300	6503	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2518A>C	chr5.hg19:g.156915305T>G	ENSP00000428654:p.Ile840Leu		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.470|0.470	-0.884725|-0.884725	0.02530|0.02530	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T;T|.	0.01430|.	4.9;5.05;5.07;5.04|.	5.69|5.69	2.82|2.82	0.32997|0.32997	.|.	0.572734|.	0.16805|.	N|.	0.198802|.	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.03608|0.03608	-0.345|-0.345	0.20489|0.20489	N|N	0.999891|0.999891	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.001;0.0;0.002|.	T|T	0.27400|0.27400	-1.0075|-1.0075	10|5	0.02654|.	T|.	1|.	.|.	8.9891|8.9891	0.36012|0.36012	0.0:0.7653:0.0:0.2347|0.0:0.7653:0.0:0.2347	.|.	840;840;573|.	Q9H013-2;Q9H013;E9PD32|.	.;ADA19_HUMAN;.|.	L|H	573;840;842;840|410	ENSP00000414088:I573L;ENSP00000257527:I840L;ENSP00000377588:I842L;ENSP00000428654:I840L|.	ENSP00000257527:I840L|.	I|Q	-|-	1|3	0|2	ADAM19|ADAM19	156847883|156847883	0.245000|0.245000	0.23899|0.23899	0.340000|0.340000	0.25575|0.25575	0.278000|0.278000	0.26855|0.26855	0.407000|0.407000	0.21049|0.21049	0.321000|0.321000	0.23259|0.23259	-0.608000|-0.608000	0.04076|0.04076	ATT|CAA		0.567	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		G	156915305	T	G	156915305	3	3	2	1	0	0	0	0	1	0	0	0	240	1493	52	5	250	5	ADAM19	5	156915305	Missense_Mutation	SNP	T	TCGA-2Z-A9J1-01A-11D-A382-10	3771242	156915305	23999955	31	92											
CLINT1	9685	hgsc.bcm.edu	37	5	157285937	157285937	+	Splice_Site	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:157285937C>G	ENST00000411809.2	-	1	246		c.e1+1		CLINT1_ENST00000523908.1_Splice_Site|CLINT1_ENST00000523094.1_Intron|CLINT1_ENST00000530742.1_Intron|CLINT1_ENST00000296951.5_Splice_Site	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1						clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGATACTCACGCTTTGTCCA	0.701																																					Colon(22;427 587 2170 6147 14291)											0													37	42	40					5																	157285937		1998	4152	6150	SO:0001630	splice_region_variant	9685			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.41+1G>C	chr5.hg19:g.157285937C>G			B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Splice_Site	SNP	ENST00000411809.2	hg19	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275080	0.80580	.	.	ENSG00000113282	ENST00000411809;ENST00000523908	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.049	0.71850	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLINT1	157218515	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.146000	0.64845	2.249000	0.74217	0.655000	0.94253	.		0.701	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666	Intron	G	157285937	C	G	157285937	5	3	2	1	0	0	0	0	0	0	1	0	3533	550	19	4	1883	4	CLINT1	5	157285937	Splice_Site	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	370632	157285937	23629323	32	93											
FOXI1	2299	hgsc.bcm.edu	37	5	169532985	169532985	+	Silent	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:169532985G>T	ENST00000306268.6	+	1	85	c.24G>T	c.(22-24)gcG>gcT	p.A8A	FOXI1_ENST00000449804.2_Silent_p.A8A			Q12951	FOXI1_HUMAN	forkhead box I1	8	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTGCCGGCGCCCTCCCCAC	0.692									Pendred syndrome																																							0													17	20	19					5																	169532985		2201	4295	6496	SO:0001819	synonymous_variant	2299	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.24G>T	chr5.hg19:g.169532985G>T			Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	hg19	CCDS4372.1																																																																																				0.692	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		T	169532985	G	T	169532985	2	4	2	1	0	0	0	0	0	0	0	1	6011	1074	38	4		4	FOXI1	5	169532985	Silent	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	12247048	169532985	11382275	33	94											
CANX	821	hgsc.bcm.edu	37	5	179150705	179150705	+	Silent	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr5:179150705G>A	ENST00000247461.4	+	12	1643	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P	CANX_ENST00000415618.2_Silent_p.P516P|CANX_ENST00000504734.1_Silent_p.P481P|CANX_ENST00000512607.2_Silent_p.P373P|CANX_ENST00000452673.2_Silent_p.P481P	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	481					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	AAGAGCGCCCGTGGCTGTGGG	0.473																																																0													142	141	141					5																	179150705		2203	4300	6503	SO:0001819	synonymous_variant	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1443G>A	chr5.hg19:g.179150705G>A			B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Silent	SNP	ENST00000247461.4	hg19	CCDS4447.1																																																																																				0.473	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		A	179150705	G	A	179150705	2	1	2	1	0	0	0	0	0	0	0	1	2620	1132	40	1		1	CANX	5	179150705	Silent	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	9617720	179150705	1764555	34	95											
RIPK1	8737	hgsc.bcm.edu	37	6	3104478	3104478	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:3104478A>G	ENST00000259808.4	+	8	1233	c.935A>G	c.(934-936)aAt>aGt	p.N312S	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.N266S|RIPK1_ENST00000380409.2_Missense_Mutation_p.N312S			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	312	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TCAAACGAAAATGCAGTTGTG	0.348																																																0													99	97	97					6																	3104478		2203	4300	6503	SO:0001583	missense	8737			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.935A>G	chr6.hg19:g.3104478A>G	ENSP00000259808:p.Asn312Ser		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	hg19	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.402975	0.25291	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.76968	-1.06;-0.52;-1.06	5.07	1.4	0.22301	Protein kinase-like domain (1);	0.441952	0.29624	N	0.011622	T	0.31796	0.0808	N	0.20401	0.57	0.23254	N	0.998037	B;B	0.18310	0.027;0.008	B;B	0.17722	0.019;0.004	T	0.28902	-1.0029	10	0.12103	T	0.63	-19.08	4.2271	0.10585	0.6064:0.0:0.2524:0.1412	.	266;312	Q13546-2;Q13546	.;RIPK1_HUMAN	S	312;266;312	ENSP00000259808:N312S;ENSP00000442294:N266S;ENSP00000369773:N312S	ENSP00000259808:N312S	N	+	2	0	RIPK1	3049477	0.001000	0.12720	0.004000	0.12327	0.470000	0.32858	0.552000	0.23376	0.062000	0.16340	0.528000	0.53228	AAT		0.348	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		G	3104478	A	G	3104478	3	3	2	1	0	0	0	0	1	0	0	0	13386	101	4	3	961	3	RIPK1	6	3104478	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10		3104478	168010589	35	96											
CPNE5	57699	hgsc.bcm.edu	37	6	36746667	36746667	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:36746667G>T	ENST00000244751.2	-	9	1220	c.596C>A	c.(595-597)cCc>cAc	p.P199H		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	199	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TACCAAGAAGGGGTCAGATTT	0.542																																																0													231	212	218					6																	36746667		2203	4300	6503	SO:0001583	missense	57699			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.596C>A	chr6.hg19:g.36746667G>T	ENSP00000244751:p.Pro199His		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	hg19	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697643	0.88830	.	.	ENSG00000124772	ENST00000244751	T	0.78003	-1.14	5.22	5.22	0.72569	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93164	0.7823	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95764	0.8803	10	0.87932	D	0	.	16.6249	0.84967	0.0:0.0:1.0:0.0	.	199	Q9HCH3	CPNE5_HUMAN	H	199	ENSP00000244751:P199H	ENSP00000244751:P199H	P	-	2	0	CPNE5	36854645	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.349000	0.97066	2.613000	0.88420	0.579000	0.79373	CCC		0.542	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		T	36746667	G	T	36746667	3	4	2	1	0	0	0	0	1	0	0	0	3817	1232	43	4	1237	4	CPNE5	6	36746667	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	33642189	36746667	134368400	36	97											
MRPS10	55173	hgsc.bcm.edu	37	6	42179572	42179572	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:42179572A>T	ENST00000053468.3	-	4	285	c.270T>A	c.(268-270)agT>agA	p.S90R		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	90						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			AATATTCATAACTGTCCAATA	0.398																																																0													123	117	119					6																	42179572		2203	4300	6503	SO:0001583	missense	55173				CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"Mitochondrial ribosomal proteins / small subunits"	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.270T>A	chr6.hg19:g.42179572A>T	ENSP00000053468:p.Ser90Arg		B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	hg19	CCDS4866.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106048	0.77096	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.78	-1.1	0.09872	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63462	-0.6632	9	0.66056	D	0.02	-14.4952	10.3265	0.43796	0.6463:0.0:0.3537:0.0	.	90	P82664	RT10_HUMAN	R	90	.	ENSP00000053468:S90R	S	-	3	2	MRPS10	42287550	1.000000	0.71417	0.809000	0.32408	0.994000	0.84299	1.312000	0.33574	-0.415000	0.07484	-0.274000	0.10170	AGT		0.398	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1			T	42179572	A	T	42179572	3	4	2	1	0	0	0	0	1	0	0	0	9823	40	2	5	351	5	MRPS10	6	42179572	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	5432905	42179572	128935495	37	98											
C6orf170	221322	hgsc.bcm.edu	37	6	121447579	121447579	+	Silent	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:121447579C>A	ENST00000398212.2	-	26	2977	c.2928G>T	c.(2926-2928)gtG>gtT	p.V976V	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Silent_p.V1017V	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	976					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TGAGATGAAGCACAAATTTTT	0.318																																																0													107	102	103					6																	121447579		1821	4080	5901	SO:0001819	synonymous_variant	221322			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2928G>T	chr6.hg19:g.121447579C>A			Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	hg19	CCDS43501.1																																																																																				0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		A	121447579	C	A	121447579	2	1	2	1	0	0	0	0	0	0	0	1	2346	697	25	4		4	C6orf170	6	121447579	Silent	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	79268007	121447579	49667488	38	99											
PCMT1	5110	hgsc.bcm.edu	37	6	150070960	150070960	+	5'UTR	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:150070960G>A	ENST00000367380.5	+	0	130				NUP43_ENST00000463048.3_5'Flank|PCMT1_ENST00000544496.1_5'UTR|PCMT1_ENST00000367378.1_Missense_Mutation_p.V33I|PCMT1_ENST00000464889.1_Missense_Mutation_p.V33I|PCMT1_ENST00000367384.2_Missense_Mutation_p.V33I	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase						protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		gtgggaggtggTCTCACTCTT	0.687																																																0													90	115	107					6																	150070960		692	1591	2283	SO:0001623	5_prime_UTR_variant	5110				CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.-78G>A	chr6.hg19:g.150070960G>A			A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP	ENST00000367380.5	hg19		.	.	.	.	.	.	.	.	.	.	G	18.50	3.638391	0.67130	.	.	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889	T;T;T	0.45668	0.89;0.89;0.89	5.14	2.15	0.27550	.	.	.	.	.	T	0.17152	0.0412	L	0.44542	1.39	0.80722	D	1	B;B;B	0.28971	0.229;0.229;0.229	B;B;B	0.24006	0.05;0.05;0.05	T	0.05599	-1.0875	9	0.51188	T	0.08	.	9.3336	0.38036	0.0:0.2582:0.4735:0.2683	.	33;33;33	F8WAX2;F8WAV5;F8WDT3	.;.;.	I	33	ENSP00000356354:V33I;ENSP00000356348:V33I;ENSP00000420813:V33I	ENSP00000356348:V33I	V	+	1	0	PCMT1	150112653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.803000	0.38863	0.532000	0.28657	0.591000	0.81541	GTC		0.687	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				A	150070960	G	A	150070960	1	1	2	0	1	0	0	0	0	0	0	0	11587	1261	44	2		2	PCMT1	6	150070960	5'UTR	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	28623381	150070960	21044107	39	100											
TULP4	56995	hgsc.bcm.edu	37	6	158915829	158915829	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:158915829A>C	ENST00000367097.3	+	11	3178	c.1821A>C	c.(1819-1821)aaA>aaC	p.K607N	TULP4_ENST00000367094.2_Missense_Mutation_p.K607N	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	607					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGGGAACCAAATTTAAGATTG	0.418																																																0													139	125	129					6																	158915829		2203	4300	6503	SO:0001583	missense	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1821A>C	chr6.hg19:g.158915829A>C	ENSP00000356064:p.Lys607Asn		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	hg19	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588248	0.86851	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	D;D	0.87887	-2.31;-2.31	5.56	1.87	0.25490	Tubby, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87716	0.6247	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.83275	0.99;0.996	D	0.86643	0.1893	10	0.72032	D	0.01	-18.8341	8.5636	0.33525	0.7684:0.0:0.2316:0.0	.	607;607	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	N	607	ENSP00000356064:K607N;ENSP00000356061:K607N	ENSP00000356061:K607N	K	+	3	2	TULP4	158835817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.229000	0.42990	0.084000	0.17077	0.533000	0.62120	AAA		0.418	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		C	158915829	A	C	158915829	3	2	2	1	0	0	0	0	1	0	0	0	16781	98	4	5	1863	5	TULP4	6	158915829	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	8844869	158915829	12199238	40	101											
IGF2R	3482	hgsc.bcm.edu	37	6	160453699	160453699	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr6:160453699G>T	ENST00000356956.1	+	8	1147	c.999G>T	c.(997-999)gaG>gaT	p.E333D		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	333					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGAGCGGCGAGCAGCAGGATG	0.517																																																0													93	89	90					6																	160453699		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.999G>T	chr6.hg19:g.160453699G>T	ENSP00000349437:p.Glu333Asp		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	5.387	0.256638	0.10185	.	.	ENSG00000197081	ENST00000356956	T	0.04119	3.7	5.09	2.12	0.27331	Mannose-6-phosphate receptor, binding (1);	1.300900	0.04701	N	0.415851	T	0.02156	0.0067	L	0.56199	1.76	0.41272	D	0.986859	B	0.09022	0.002	B	0.10450	0.005	T	0.41945	-0.9480	10	0.21014	T	0.42	-9.1428	7.3787	0.26843	0.1477:0.3885:0.4638:0.0	.	333	P11717	MPRI_HUMAN	D	333	ENSP00000349437:E333D	ENSP00000349437:E333D	E	+	3	2	IGF2R	160373689	0.106000	0.21978	0.943000	0.38184	0.088000	0.18126	0.006000	0.13152	0.658000	0.30925	0.655000	0.94253	GAG		0.517	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		T	160453699	G	T	160453699	3	4	2	1	0	0	0	0	1	0	0	0	7578	962	34	4	1029	4	IGF2R	6	160453699	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	1537870	160453699	10661368	41	102											
NUPL2	11097	hgsc.bcm.edu	37	7	23221710	23221710	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:23221710C>T	ENST00000258742.5	+	1	265	c.6C>T	c.(4-6)gcC>gcT	p.A2A	NUPL2_ENST00000410002.3_Silent_p.A2A|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	2					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCGCAATGGCCATTTGTCAAT	0.632																																																0													80	67	72					7																	23221710		2203	4300	6503	SO:0001819	synonymous_variant	11097			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.6C>T	chr7.hg19:g.23221710C>T			A4D143|B4DP42|Q49AE7|Q9BS49	Silent	SNP	ENST00000258742.5	hg19	CCDS5379.1																																																																																				0.632	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		T	23221710	C	T	23221710	2	4	2	1	0	0	0	0	0	0	0	1	10777	581	21	2		2	NUPL2	7	23221710	Silent	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10		23221710	135916953	42	103											
TXNDC3	51314	hgsc.bcm.edu	37	7	37923905	37923905	+	Splice_Site	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:37923905A>T	ENST00000199447.4	+	13	1367	c.995A>T	c.(994-996)gAt>gTt	p.D332V	NME8_ENST00000440017.1_Splice_Site_p.D332V|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	332	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TTTTATTTAGATGATGTTTTG	0.303																																																0													80	77	78					7																	37923905		2202	4292	6494	SO:0001630	splice_region_variant	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.995-1A>T	chr7.hg19:g.37923905A>T			Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	hg19	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043787	0.36085	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.56275	0.47;0.47	3.85	3.85	0.44370	.	0.717261	0.12527	N	0.461140	T	0.65626	0.2709	M	0.70595	2.14	0.58432	D	0.999998	D	0.53885	0.963	P	0.58130	0.833	T	0.64364	-0.6425	9	.	.	.	.	10.9803	0.47490	1.0:0.0:0.0:0.0	.	332	Q8N427	TXND3_HUMAN	V	332	ENSP00000199447:D332V;ENSP00000397063:D332V	.	D	+	2	0	TXNDC3	37890430	0.994000	0.37717	0.997000	0.53966	0.087000	0.18053	2.623000	0.46435	1.966000	0.57179	0.477000	0.44152	GAT		0.303	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	Missense_Mutation	T	37923905	A	T	37923905	5	4	2	1	0	0	0	0	0	0	1	0	16803	347	12	5	1037	5	TXNDC3	7	37923905	Splice_Site	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	14702195	37923905	121214758	43	104											
SAMD9	54809	hgsc.bcm.edu	37	7	92732597	92732597	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:92732597A>T	ENST00000379958.2	-	3	3083	c.2814T>A	c.(2812-2814)tgT>tgA	p.C938*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	938						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAATTTTTCACACTGTGATA	0.383																																																0													61	61	61					7																	92732597		2181	4289	6470	SO:0001587	stop_gained	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2814T>A	chr7.hg19:g.92732597A>T	ENSP00000369292:p.Cys938*		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	36	5.805384	0.96967	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3085	13.2668	0.60139	1.0:0.0:0.0:0.0	.	.	.	.	X	938	.	ENSP00000369292:C938X	C	-	3	2	SAMD9	92570533	1.000000	0.71417	0.970000	0.41538	0.280000	0.26924	3.958000	0.56737	2.022000	0.59522	0.496000	0.49642	TGT		0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		T	92732597	A	T	92732597	4	4	2	1	0	0	0	0	0	1	0	0	13832	157	6	5	1959	5	SAMD9	7	92732597	Nonsense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	54808692	92732597	66406066	44	105											
LRWD1	222229	hgsc.bcm.edu	37	7	102108717	102108717	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:102108717T>A	ENST00000292616.5	+	7	964	c.812T>A	c.(811-813)gTg>gAg	p.V271E	MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	271					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAGCCTGCTGTGAAGCTGGAG	0.662																																																0													50	53	52					7																	102108717		2202	4298	6500	SO:0001583	missense	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.812T>A	chr7.hg19:g.102108717T>A	ENSP00000292616:p.Val271Glu		A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	hg19	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002082	0.54254	.	.	ENSG00000161036	ENST00000292616	T	0.64085	-0.08	4.94	2.59	0.31030	WD40 repeat-like-containing domain (1);	0.950099	0.08884	N	0.879606	T	0.45597	0.1350	N	0.19112	0.55	0.09310	N	1	B	0.23735	0.09	B	0.21360	0.034	T	0.38564	-0.9655	10	0.62326	D	0.03	-3.8122	6.2922	0.21067	0.0:0.1964:0.0:0.8036	.	271	Q9UFC0	LRWD1_HUMAN	E	271	ENSP00000292616:V271E	ENSP00000292616:V271E	V	+	2	0	LRWD1	101895722	0.864000	0.29904	0.021000	0.16686	0.754000	0.42855	1.484000	0.35508	0.383000	0.24910	0.459000	0.35465	GTG		0.662	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		A	102108717	T	A	102108717	3	1	2	1	0	0	0	0	1	0	0	0	9049	1696	59	5	838	5	LRWD1	7	102108717	Missense_Mutation	SNP	T	TCGA-2Z-A9J1-01A-11D-A382-10	9376120	102108717	57029946	45	106											
KCND2	3751	hgsc.bcm.edu	37	7	119915439	119915439	+	Silent	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:119915439G>T	ENST00000331113.4	+	1	1718	c.753G>T	c.(751-753)gcG>gcT	p.A251A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	251					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGGCTGCAGCGCCTAGTCGTT	0.532																																																0													184	152	163					7																	119915439		2203	4300	6503	SO:0001819	synonymous_variant	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.753G>T	chr7.hg19:g.119915439G>T			O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	hg19	CCDS5776.1																																																																																				0.532	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		T	119915439	G	T	119915439	2	4	2	1	0	0	0	0	0	0	0	1	8021	1074	38	4		4	KCND2	7	119915439	Silent	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	17806722	119915439	39223224	46	107											
CALU	813	hgsc.bcm.edu	37	7	128399077	128399077	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:128399077G>C	ENST00000249364.4	+	4	670	c.568G>C	c.(568-570)Gat>Cat	p.D190H	CALU_ENST00000535011.2_Missense_Mutation_p.D190H|CALU_ENST00000538546.1_Missense_Mutation_p.D39H|CALU_ENST00000542996.2_Missense_Mutation_p.D198H|CALU_ENST00000449187.2_Missense_Mutation_p.D190H|RN7SL81P_ENST00000493781.2_RNA|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Missense_Mutation_p.D198H	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	190	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						CTACATGAAAGATATAGTAGT	0.448																																																0													182	188	186					7																	128399077		2203	4300	6503	SO:0001583	missense	813			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.568G>C	chr7.hg19:g.128399077G>C	ENSP00000249364:p.Asp190His		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	hg19	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.848469|4.848469	0.91277|0.91277	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000542996;ENST00000538394;ENST00000535011;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257|ENST00000493278	T;T;T;T;T;T|.	0.72615|.	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67|.	6.08|6.08	6.08|6.08	0.98989|0.98989	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78923|0.78923	0.4360|0.4360	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.982|.	T|T	0.78188|0.78188	-0.2301|-0.2301	10|5	0.52906|.	T|.	0.07|.	-11.1092|-11.1092	18.1659|18.1659	0.89727|0.89727	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	198;190|.	D6QS48;O43852|.	.;CALU_HUMAN|.	H|T	198;190;190;39;190;190;198|21	ENSP00000438248:D198H;ENSP00000442110:D190H;ENSP00000438994:D39H;ENSP00000249364:D190H;ENSP00000408838:D190H;ENSP00000420381:D198H|.	ENSP00000249364:D190H|.	D|R	+|+	1|2	0|0	CALU|CALU	128186313|128186313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	5.650000|5.650000	0.67944|0.67944	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAT|AGA		0.448	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		C	128399077	G	C	128399077	3	2	2	1	0	0	0	0	1	0	0	0	2596	942	33	4	776	4	CALU	7	128399077	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	8483638	128399077	30739586	47	108											
PODXL	5420	hgsc.bcm.edu	37	7	131241029	131241029	+	Silent	SNP	G	G	C	rs11277659|rs547816245|rs532078953|rs79759078|rs571821675	byFrequency	TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:131241029G>C	ENST00000378555.3	-	1	337	c.90C>G	c.(88-90)ccC>ccG	p.P30P	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_Silent_p.P30P|PODXL_ENST00000541194.1_Silent_p.P30P|PODXL_ENST00000322985.9_Silent_p.P30P			O00592	PODXL_HUMAN	podocalyxin-like	30					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcg	0.751																																																0													5	7	6					7																	131241029		1981	3946	5927	SO:0001819	synonymous_variant	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.90C>G	chr7.hg19:g.131241029G>C			A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	hg19	CCDS34755.1																																																																																				0.751	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		C	131241029	G	C	131241029	2	2	2	1	0	0	0	0	0	0	0	1	12182	987	35	4		4	PODXL	7	131241029	Silent	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	2841952	131241029	27897634	48	109											
NUP205	23165	hgsc.bcm.edu	37	7	135304279	135304279	+	Missense_Mutation	SNP	T	T	G	rs368979726		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:135304279T>G	ENST00000285968.6	+	29	4098	c.4072T>G	c.(4072-4074)Tca>Gca	p.S1358A		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1358					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAGGAAACATCAGTCTTGGG	0.512																																																0													105	97	100					7																	135304279		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4072T>G	chr7.hg19:g.135304279T>G	ENSP00000285968:p.Ser1358Ala		A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	hg19	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.590307	0.00864	.	.	ENSG00000155561	ENST00000285968	T	0.32515	1.45	5.67	-5.37	0.02681	.	0.440675	0.20449	N	0.092139	T	0.09379	0.0231	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	10	0.07644	T	0.81	-14.6623	3.48	0.07598	0.1026:0.2499:0.415:0.2326	.	1358	Q92621	NU205_HUMAN	A	1358	ENSP00000285968:S1358A	ENSP00000285968:S1358A	S	+	1	0	NUP205	134954819	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.303000	0.08210	-0.845000	0.04179	0.397000	0.26171	TCA		0.512	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			G	135304279	T	G	135304279	3	3	2	1	0	0	0	0	1	0	0	0	10761	1435	50	5	4186	5	NUP205	7	135304279	Missense_Mutation	SNP	T	TCGA-2Z-A9J1-01A-11D-A382-10	4063250	135304279	23834384	49	110											
SHH	6469	hgsc.bcm.edu	37	7	155595950	155595950	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr7:155595950A>G	ENST00000297261.2	-	3	1183	c.1033T>C	c.(1033-1035)Tac>Cac	p.Y345H		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	345					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCGGCGCGTAGGCGCCCGCG	0.731																																																0													5	4	5					7																	155595950		1760	3591	5351	SO:0001583	missense	6469				CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.1033T>C	chr7.hg19:g.155595950A>G	ENSP00000297261:p.Tyr345His		A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	hg19	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	a	16.31	3.085965	0.55861	.	.	ENSG00000164690	ENST00000297261	D	0.99727	-6.55	3.6	3.6	0.41247	Hedgehog/intein hint domain, C-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.326281	0.29080	N	0.013202	D	0.99701	0.9886	M	0.91972	3.26	0.46542	D	0.999093	D;D	0.76494	0.997;0.999	D;D	0.77557	0.959;0.99	D	0.97578	1.0109	10	0.87932	D	0	.	12.3657	0.55226	1.0:0.0:0.0:0.0	.	345;348	Q15465;D9ZGF9	SHH_HUMAN;.	H	345	ENSP00000297261:Y345H	ENSP00000297261:Y345H	Y	-	1	0	SHH	155288711	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	8.289000	0.89923	1.502000	0.48669	0.398000	0.26397	TAC		0.731	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		G	155595950	A	G	155595950	3	3	2	1	0	0	0	0	1	0	0	0	14285	420	15	3	359	3	SHH	7	155595950	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	20291671	155595950	3542713	50	111											
DLC1	10395	hgsc.bcm.edu	37	8	13251117	13251117	+	Missense_Mutation	SNP	G	G	C	rs528243762		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr8:13251117G>C	ENST00000276297.4	-	4	1668	c.1259C>G	c.(1258-1260)aCg>aGg	p.T420R	DLC1_ENST00000511869.1_Missense_Mutation_p.T420R|DLC1_ENST00000316609.5_Missense_Mutation_p.T420R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	420					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGGGAGGTCCGTGGACTCAGT	0.408																																																0													152	146	148					8																	13251117		2203	4300	6503	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1259C>G	chr8.hg19:g.13251117G>C	ENSP00000276297:p.Thr420Arg		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	hg19	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291766	0.23564	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.14022	3.59;2.54;2.58	4.78	-2.55	0.06288	.	1.511200	0.04057	N	0.305696	T	0.11836	0.0288	L	0.29908	0.895	0.09310	N	1	P;P;P	0.37781	0.603;0.485;0.608	B;B;B	0.43360	0.417;0.299;0.144	T	0.20672	-1.0268	10	0.41790	T	0.15	.	2.5185	0.04674	0.418:0.1155:0.3487:0.1178	.	420;420;420	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	R	420	ENSP00000276297:T420R;ENSP00000321034:T420R;ENSP00000425878:T420R	ENSP00000276297:T420R	T	-	2	0	DLC1	13295488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.428000	0.21395	-0.405000	0.07599	-0.133000	0.14855	ACG		0.408	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		C	13251117	G	C	13251117	3	2	2	1	0	0	0	0	1	0	0	0	4552	1145	40	4	3472	4	DLC1	8	13251117	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10		13251117	133112905	51	112											
EPHX2	2053	hgsc.bcm.edu	37	8	27398077	27398077	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr8:27398077delT	ENST00000521400.1	+	15	1713	c.1283delT	c.(1282-1284)cttfs	p.L428fs	EPHX2_ENST00000521780.1_Frame_Shift_Del_p.L362fs|EPHX2_ENST00000517536.1_Frame_Shift_Del_p.L245fs|EPHX2_ENST00000518379.1_Frame_Shift_Del_p.L396fs|EPHX2_ENST00000380476.3_Frame_Shift_Del_p.L375fs	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	428	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		GCAGGAGGACTTTTTGTAAAT	0.498																																																0													73	78	76					8																	27398077		2203	4300	6503	SO:0001589	frameshift_variant	2053			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1283delT	chr8.hg19:g.27398077delT	ENSP00000430269:p.Leu428fs		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Frame_Shift_Del	DEL	ENST00000521400.1	hg19	CCDS6060.1																																																																																				0.498	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			-	27398077	T	-	27398077	7	5	2	1	0	1	0	1	0	0	0	0	5182	1609	56	0	1341	0	EPHX2	8	27398077	Frame_Shift_Del	DEL	T	TCGA-2Z-A9J1-01A-11D-A382-10	14146960	27398077	118965945	52	113											
VDAC3	7419	hgsc.bcm.edu	37	8	42262963	42262963	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr8:42262963delT	ENST00000022615.4	+	10	903	c.835delT	c.(835-837)tttfs	p.F279fs	VDAC3_ENST00000392935.3_Frame_Shift_Del_p.F280fs|VDAC3_ENST00000521158.1_Frame_Shift_Del_p.F280fs|VDAC3_ENST00000522572.1_Frame_Shift_Del_p.F130fs			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	279					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TGGCTTGGGATTTGAACTGGA	0.408																																																0													166	161	163					8																	42262963		2203	4300	6503	SO:0001589	frameshift_variant	7419			AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"Voltage-dependent anion channels"	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.835delT	chr8.hg19:g.42262963delT	ENSP00000022615:p.Phe279fs		Q9UIS0	Frame_Shift_Del	DEL	ENST00000022615.4	hg19	CCDS6131.1																																																																																				0.408	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			-	42262963	T	-	42262963	7	5	2	1	0	1	0	1	0	0	0	0	17153	1493	52	0	868	0	VDAC3	8	42262963	Frame_Shift_Del	DEL	T	TCGA-2Z-A9J1-01A-11D-A382-10	14864886	42262963	104101059	53	114											
CEP110	11064	hgsc.bcm.edu	37	9	123898196	123898196	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr9:123898196A>G	ENST00000373855.1	+	15	2398	c.2138A>G	c.(2137-2139)aAc>aGc	p.N713S	CNTRL_ENST00000238341.5_Missense_Mutation_p.N713S|CNTRL_ENST00000373850.1_Missense_Mutation_p.N161S|CNTRL_ENST00000373847.1_Missense_Mutation_p.N161S			Q7Z7A1	CNTRL_HUMAN	centriolin	713					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCTCGGCTAAACCTAAGGGAT	0.493																																																0													71	61	64					9																	123898196		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2138A>G	chr9.hg19:g.123898196A>G	ENSP00000362962:p.Asn713Ser		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	hg19	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	2.901	-0.227527	0.06022	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.78	0.0413	0.14213	.	.	.	.	.	T	0.21186	0.0510	N	0.08118	0	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.13407	0.0;0.009;0.0	T	0.23619	-1.0183	9	0.24483	T	0.36	.	9.828	0.40923	0.4762:0.0:0.5238:0.0	.	713;713;713	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	S	713;713;713;195;161;161	ENSP00000362962:N713S;ENSP00000238341:N713S;ENSP00000362956:N161S;ENSP00000362953:N161S	ENSP00000238341:N713S	N	+	2	0	CNTRL	122938017	0.122000	0.22280	0.002000	0.10522	0.009000	0.06853	0.478000	0.22212	-0.052000	0.13311	-0.250000	0.11733	AAC		0.493	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		G	123898196	A	G	123898196	3	3	2	1	0	0	0	0	1	0	0	0	3247	43	2	3	2188	3	CEP110	9	123898196	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10		123898196	17315235	54	115											
GPSM1	26086	hgsc.bcm.edu	37	9	139235387	139235387	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr9:139235387C>A	ENST00000440944.1	+	9	1364	c.1144C>A	c.(1144-1146)Ctc>Atc	p.L382I	GPSM1_ENST00000392945.3_Missense_Mutation_p.L382I	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	382	Interaction with STK11/LKB1. {ECO:0000250}.|Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GCAGCTGGTGCTCGGCCGCCT	0.711																																																0													10	12	11					9																	139235387		2122	4195	6317	SO:0001583	missense	26086			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1144C>A	chr9.hg19:g.139235387C>A	ENSP00000392828:p.Leu382Ile		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	hg19	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074785	0.55646	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;T	0.79554	-1.28;-1.28;-1.28	3.91	3.91	0.45181	Tetratricopeptide-like helical (1);	0.098698	0.42420	D	0.000720	D	0.89114	0.6623	M	0.77103	2.36	0.80722	D	1	P;P	0.47545	0.897;0.797	D;P	0.74674	0.984;0.88	D	0.89811	0.3982	10	0.51188	T	0.08	-11.6845	15.0757	0.72074	0.0:1.0:0.0:0.0	.	382;382	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	I	382;382;359	ENSP00000376674:L382I;ENSP00000392828:L382I;ENSP00000346797:L359I	ENSP00000346797:L359I	L	+	1	0	GPSM1	138355208	0.995000	0.38212	0.895000	0.35142	0.190000	0.23558	3.345000	0.52182	2.028000	0.59812	0.462000	0.41574	CTC		0.711	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		A	139235387	C	A	139235387	3	1	2	1	0	0	0	0	1	0	0	0	6736	797	28	4	1178	4	GPSM1	9	139235387	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	15337191	139235387	1978044	55	116											
ITIH2	3698	hgsc.bcm.edu	37	10	7773959	7773959	+	Splice_Site	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr10:7773959G>T	ENST00000358415.4	+	13	1813	c.1647G>T	c.(1645-1647)tcG>tcT	p.S549S	ITIH2_ENST00000379587.4_Splice_Site_p.S538S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	549					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGGCGACTTCGGTACTTCCAC	0.443																																																0													110	103	106					10																	7773959		2203	4300	6503	SO:0001630	splice_region_variant	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1647+1G>T	chr10.hg19:g.7773959G>T			Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	hg19	CCDS31141.1																																																																																				0.443	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	Silent	T	7773959	G	T	7773959	5	4	2	1	0	0	0	0	0	0	1	0	7906	1130	39	4	1697	4	ITIH2	10	7773959	Splice_Site	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10		7773959	127760788	56	117											
TNKS2	80351	hgsc.bcm.edu	37	10	93593660	93593660	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr10:93593660T>A	ENST00000371627.4	+	12	1705	c.1326T>A	c.(1324-1326)taT>taA	p.Y442*		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	442					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GAGCTGCATATTGTGGTCATC	0.398																																																0													143	128	133					10																	93593660		2203	4300	6503	SO:0001587	stop_gained	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1326T>A	chr10.hg19:g.93593660T>A	ENSP00000360689:p.Tyr442*		B2RBD3|Q9H8F2|Q9HAS4	Nonsense_Mutation	SNP	ENST00000371627.4	hg19	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	T	40	7.973135	0.98588	.	.	ENSG00000107854	ENST00000371627	.	.	.	5.83	-0.787	0.10943	.	0.091772	0.47093	D	0.000248	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2073	0.54358	0.0:0.6102:0.0:0.3898	.	.	.	.	X	442	.	ENSP00000360689:Y442X	Y	+	3	2	TNKS2	93583640	0.632000	0.27172	0.995000	0.50966	0.860000	0.49131	-0.277000	0.08502	-0.088000	0.12506	0.533000	0.62120	TAT		0.398	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		A	93593660	T	A	93593660	4	1	2	1	0	0	0	0	0	1	0	0	16326	1500	52	5	1372	5	TNKS2	10	93593660	Nonsense_Mutation	SNP	T	TCGA-2Z-A9J1-01A-11D-A382-10	85819701	93593660	41941087	57	118											
KRTAP5-5	439915	hgsc.bcm.edu	37	11	1651643	1651645	+	In_Frame_Del	DEL	CTA	CTA	-	rs576867883|rs4752771|rs71025765|rs77039648		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	CTA	CTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:1651643_1651645delCTA	ENST00000399676.2	+	1	611_613	c.573_575delCTA	c.(571-576)ccctac>ccc	p.Y192del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	192	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.Y182_P191delYCCQSSCCKP(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGTAAGCCCTACTGCTGCCAG	0.606																																																1	Deletion - In frame(1)	urinary_tract(1)																																								SO:0001651	inframe_deletion	439915			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.573_575delCTA	chr11.hg19:g.1651643_1651645delCTA	ENSP00000382584:p.Tyr192del		A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	hg19	CCDS41592.1																																																																																				0.606	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			-	1651645	CTA	-	1651643	7	5	2	1	0	1	0	1	0	0	0	0	8566	668	24	0	575	0	KRTAP5-5	11	1651643	In_Frame_Del	DEL	CTA	TCGA-2Z-A9J1-01A-11D-A382-10		1651643	133354873	58	119											
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249121	71249121	+	Missense_Mutation	SNP	C	C	G	rs200585722		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:71249121C>G	ENST00000398534.3	+	1	51	c.20C>G	c.(19-21)tCt>tGt	p.S7C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	7						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGTGGCTGCTCTGGAGGCTGT	0.657																																																0													47	66	60					11																	71249121		2189	4282	6471	SO:0001583	missense	57830			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.20C>G	chr11.hg19:g.71249121C>G	ENSP00000420723:p.Ser7Cys		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	hg19	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	c	3.358	-0.131059	0.06753	.	.	ENSG00000241233	ENST00000398534	T	0.01527	4.8	1.57	1.57	0.23409	.	.	.	.	.	T	0.03564	0.0102	M	0.74389	2.26	0.09310	N	1	P	0.39094	0.659	B	0.43225	0.412	T	0.34204	-0.9838	9	0.62326	D	0.03	.	3.9595	0.09404	0.0:0.775:0.0:0.225	.	7	O75690	KRA58_HUMAN	C	7	ENSP00000420723:S7C	ENSP00000420723:S7C	S	+	2	0	KRTAP5-8	70926769	0.030000	0.19436	0.804000	0.32291	0.223000	0.24884	-0.589000	0.05767	1.182000	0.42928	0.514000	0.50259	TCT		0.657	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		G	71249121	C	G	71249121	3	3	2	1	0	0	0	0	1	0	0	0	8569	913	32	4	22	4	KRTAP5-8	11	71249121	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	69597478	71249121	63757395	59	120	1	2									
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249125	71249125	+	Silent	SNP	A	A	G	rs537752041|rs113379698|rs55848980	byFrequency	TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:71249125A>G	ENST00000398534.3	+	1	55	c.24A>G	c.(22-24)ggA>ggG	p.G8G		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	8						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTGCTCTGGAGGCTGTGGCT	0.652																																																0													47	66	60					11																	71249125		2189	4280	6469	SO:0001819	synonymous_variant	57830			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.24A>G	chr11.hg19:g.71249125A>G			Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	hg19	CCDS41683.1																																																																																				0.652	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		G	71249125	A	G	71249125	2	3	2	1	0	0	0	0	0	0	0	1	8569	291	11	3		3	KRTAP5-8	11	71249125	Silent	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	4	71249125	63757391	60	121	1	2									
P4HA3	283208	hgsc.bcm.edu	37	11	74009326	74009327	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:74009326_74009327insC	ENST00000331597.4	-	4	692_693	c.647_648insG	c.(646-648)ggafs	p.G216fs	P4HA3_ENST00000427714.2_Frame_Shift_Ins_p.G216fs	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	216						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TCTTCCACTCTCCGTAAGATCC	0.49																																																0																																										SO:0001589	frameshift_variant	283208			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.648dupG	chr11.hg19:g.74009328_74009328dupC	ENSP00000332170:p.Gly216fs		A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Frame_Shift_Ins	INS	ENST00000331597.4	hg19	CCDS8230.1																																																																																				0.49	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		C	74009327	-	C	74009326	7	5	2	1	0	1	1	0	0	0	0	0	11360	1538	54	0	1026	0	P4HA3	11	74009326	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J1-01A-11D-A382-10	2760201	74009326	60997190	61	122											
ATM	472	hgsc.bcm.edu	37	11	108192079	108192079	+	Silent	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:108192079G>T	ENST00000452508.2	+	46	6693	c.6504G>T	c.(6502-6504)tcG>tcT	p.S2168S	ATM_ENST00000278616.4_Silent_p.S2168S|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2168	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTGTGTATTCGCTCTATCCCA	0.408			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													169	157	161					11																	108192079		2201	4298	6499	SO:0001819	synonymous_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6504G>T	chr11.hg19:g.108192079G>T			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	hg19	CCDS31669.1																																																																																				0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108192079	G	T	108192079	2	4	2	1	0	0	0	0	0	0	0	1	1109	1074	38	4		4	ATM	11	108192079	Silent	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	34182753	108192079	26814437	62	123											
PHLDB1	23187	hgsc.bcm.edu	37	11	118498946	118498946	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:118498946C>T	ENST00000361417.2	+	7	1818	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	PHLDB1_ENST00000356063.5_Silent_p.L469L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	469										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGCGAGCTCTCTCCCCGCTGC	0.677																																																0													55	68	64					11																	118498946		2200	4295	6495	SO:0001819	synonymous_variant	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1407C>T	chr11.hg19:g.118498946C>T			B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	hg19	CCDS8401.1																																																																																				0.677	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		T	118498946	C	T	118498946	2	4	2	1	0	0	0	0	0	0	0	1	11853	900	32	2		2	PHLDB1	11	118498946	Silent	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	10306867	118498946	16507570	63	124											
CDON	50937	hgsc.bcm.edu	37	11	125891166	125891166	+	Missense_Mutation	SNP	C	C	T	rs374113801		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr11:125891166C>T	ENST00000392693.3	-	3	453	c.326G>A	c.(325-327)gGc>gAc	p.G109D	CDON_ENST00000263577.7_Missense_Mutation_p.G109D	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	109	Ig-like C2-type 1.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTCGCAGGGCCACTCACAAT	0.438																																																0													50	50	50					11																	125891166		2201	4299	6500	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.326G>A	chr11.hg19:g.125891166C>T	ENSP00000376458:p.Gly109Asp		O14631	Missense_Mutation	SNP	ENST00000392693.3	hg19	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.459|7.459	0.644339|0.644339	0.14451|0.14451	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967;ENST00000534818|ENST00000534661	T;T;T;T;T|.	0.76060|.	2.79;2.79;2.79;2.79;-0.99|.	5.78|5.78	2.38|2.38	0.29361|0.29361	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	1.028080|.	0.07726|.	N|.	0.944420|.	T|.	0.19525|.	0.0469|.	N|N	0.10645|0.10645	0.015|0.015	0.09310|0.09310	N|N	1|1	B;P;B|.	0.34615|.	0.001;0.459;0.404|.	B;B;B|.	0.43575|.	0.003;0.424;0.299|.	T|.	0.24225|.	-1.0166|.	10|.	0.18710|.	T|.	0.47|.	-3.2722|-3.2722	10.1949|10.1949	0.43049|0.43049	0.0:0.7427:0.1165:0.1408|0.0:0.7427:0.1165:0.1408	.|.	109;109;109|.	E9PRD8;Q4KMG0;Q4KMG0-2|.	.;CDON_HUMAN;.|.	D|X	109|84	ENSP00000376458:G109D;ENSP00000263577:G109D;ENSP00000434212:G109D;ENSP00000436940:G109D;ENSP00000437176:G109D|.	ENSP00000263577:G109D|.	G|W	-|-	2|3	0|0	CDON|CDON	125396376|125396376	0.000000|0.000000	0.05858|0.05858	0.350000|0.350000	0.25708|0.25708	0.421000|0.421000	0.31385|0.31385	0.293000|0.293000	0.19029|0.19029	0.760000|0.760000	0.33108|0.33108	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.438	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		T	125891166	C	T	125891166	3	4	2	1	0	0	0	0	1	0	0	0	3172	739	26	2	3540	2	CDON	11	125891166	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	7392220	125891166	9115350	64	125											
CLEC1A	51267	hgsc.bcm.edu	37	12	10223995	10223995	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:10223995C>G	ENST00000315330.4	-	6	842	c.780G>C	c.(778-780)agG>agC	p.R260S	CLEC1A_ENST00000457018.2_Missense_Mutation_p.R227S|CLEC1A_ENST00000420265.2_Missense_Mutation_p.R168S	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	260					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CCATTCCTGCCCTTCTCTCAC	0.507																																																0													195	172	179					12																	10223995		2203	4300	6503	SO:0001583	missense	51267			AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.780G>C	chr12.hg19:g.10223995C>G	ENSP00000326407:p.Arg260Ser		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	hg19	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	C	7.988	0.752743	0.15778	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.16897	2.31;2.31;2.31	5.33	-3.61	0.04556	C-type lectin fold (1);C-type lectin-like (1);	2.595010	0.01388	N	0.013141	T	0.13372	0.0324	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17465	0.022;0.017;0.005	B;B;B	0.14023	0.005;0.01;0.004	T	0.34625	-0.9821	10	0.54805	T	0.06	.	7.4304	0.27124	0.1095:0.449:0.0:0.4415	.	168;227;260	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	S	260;227;168	ENSP00000326407:R260S;ENSP00000415048:R227S;ENSP00000417010:R168S	ENSP00000326407:R260S	R	-	3	2	CLEC1A	10115262	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-2.449000	0.01008	-0.797000	0.04450	-1.119000	0.02030	AGG		0.507	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		G	10223995	C	G	10223995	3	3	2	1	0	0	0	0	1	0	0	0	3507	622	22	4	66	4	CLEC1A	12	10223995	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10		10223995	123627900	65	126											
KIAA0528	9847	hgsc.bcm.edu	37	12	22622701	22622701	+	Silent	SNP	T	T	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:22622701T>C	ENST00000333957.4	-	22	2730	c.2475A>G	c.(2473-2475)caA>caG	p.Q825Q	C2CD5_ENST00000446597.1_Silent_p.Q825Q|C2CD5_ENST00000396028.2_Silent_p.Q816Q|C2CD5_ENST00000542676.1_Silent_p.Q825Q|C2CD5_ENST00000544930.1_Silent_p.Q640Q|C2CD5_ENST00000545552.1_Silent_p.Q838Q|C2CD5_ENST00000536386.1_Silent_p.Q827Q	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	825					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										CCAGTGGAAATTGTAAAAGTT	0.328																																																0													94	97	96					12																	22622701		2203	4300	6503	SO:0001819	synonymous_variant	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2475A>G	chr12.hg19:g.22622701T>C			B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	ENST00000333957.4	hg19	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	T	7.147	0.583074	0.13749	.	.	ENSG00000111731	ENST00000539615	.	.	.	5.11	1.78	0.24846	.	.	.	.	.	T	0.51839	0.1698	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42068	-0.9473	4	.	.	.	-8.9389	5.1412	0.14959	0.0:0.5095:0.0:0.4905	.	.	.	.	S	109	.	.	N	-	2	0	KIAA0528	22513968	0.997000	0.39634	1.000000	0.80357	0.880000	0.50808	0.254000	0.18314	0.677000	0.31305	-0.777000	0.03380	AAT		0.328	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		C	22622701	T	C	22622701	2	2	2	1	0	0	0	0	0	0	0	1	8184	1490	52	3		3	KIAA0528	12	22622701	Silent	SNP	T	TCGA-2Z-A9J1-01A-11D-A382-10	12398706	22622701	111229194	66	127											
DDX11	1663	hgsc.bcm.edu	37	12	31242339	31242339	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:31242339C>T	ENST00000407793.2	+	8	1046	c.795C>T	c.(793-795)aaC>aaT	p.N265N	DDX11_ENST00000545668.1_Silent_p.N265N|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Silent_p.N265N|DDX11_ENST00000542838.1_Silent_p.N265N|DDX11_ENST00000228264.6_Silent_p.N239N	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	265	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGCTGCAGAACCTTTGTGTAA	0.517										Multiple Myeloma(12;0.14)																																						0													79	77	78					12																	31242339		2203	4300	6503	SO:0001819	synonymous_variant	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.795C>T	chr12.hg19:g.31242339C>T			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	hg19	CCDS44856.1																																																																																				0.517	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		T	31242339	C	T	31242339	2	4	2	1	0	0	0	0	0	0	0	1	4345	506	18	2		2	DDX11	12	31242339	Silent	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	8619638	31242339	102609556	67	128											
DDX11	1663	hgsc.bcm.edu	37	12	31256511	31256511	+	Splice_Site	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:31256511G>C	ENST00000407793.2	+	26	2783	c.2532G>C	c.(2530-2532)agG>agC	p.R844S	DDX11_ENST00000545668.1_Splice_Site_p.R844S|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Splice_Site_p.G796A|DDX11_ENST00000542838.1_Splice_Site_p.G846A|DDX11_ENST00000228264.6_Splice_Site_p.G820A	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	844					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TCCTATGCAGGCAGGGCCATC	0.627										Multiple Myeloma(12;0.14)																																						0													17	24	22					12																	31256511		2190	4291	6481	SO:0001630	splice_region_variant	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2532-1G>C	chr12.hg19:g.31256511G>C			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	hg19	CCDS44856.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	2.472|2.472|2.472	-0.321689|-0.321689|-0.321689	0.05386|0.05386|0.05386	.|.|.	.|.|.	ENSG00000013573|ENSG00000013573|ENSG00000013573	ENST00000404673;ENST00000539702|ENST00000542838;ENST00000228264;ENST00000350437|ENST00000407793;ENST00000545668	.|D;D;D|T;T	.|0.97831|0.73152	.|-3.51;-3.51;-4.56|-0.72;-0.72	3.14|3.14|3.14	3.14|3.14|3.14	0.36123|0.36123|0.36123	.|.|Helicase, ATP-dependent, c2 type (1);	.|0.593501|.	.|0.17209|.	.|N|.	.|0.182822|.	D|D|D	0.86957|0.86957|0.86957	0.6058|0.6058|0.6058	H|H|H	0.98446|0.98446|0.98446	4.235|4.235|4.235	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D|D	.|0.76494|0.63046	.|0.999;0.999;0.999|0.992	.|D;D;D|P	.|0.70716|0.56434	.|0.957;0.968;0.97|0.798	D|D|D	0.90935|0.90935|0.90935	0.4793|0.4793|0.4793	5|9|8	.|.|.	.|.|.	.|.|.	.|.|.	11.816|11.816|11.816	0.52211|0.52211|0.52211	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|820;796;846|844	.|Q96FC9-3;Q96FC9-4;Q96FC9-2|Q96FC9	.|.;.;.|DDX11_HUMAN	P|A|S	545;112|846;820;796|844	.|ENSP00000443426:G846A;ENSP00000228264:G820A;ENSP00000309965:G796A|ENSP00000384703:R844S;ENSP00000440402:R844S	.|.|.	A|G|R	+|+|+	1|2|3	0|0|2	DDX11|DDX11|DDX11	31147778|31147778|31147778	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.640000|0.640000|0.640000	0.38277|0.38277|0.38277	8.292000|8.292000|8.292000	0.89930|0.89930|0.89930	1.582000|1.582000|1.582000	0.49881|0.49881|0.49881	0.430000|0.430000|0.430000	0.28490|0.28490|0.28490	GCA|GGC|AGG		0.627	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	Missense_Mutation	C	31256511	G	C	31256511	5	2	2	1	0	0	0	0	0	0	1	0	4345	1217	42	4	2635	4	DDX11	12	31256511	Splice_Site	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	14172	31256511	102595384	68	129											
AAAS	8086	hgsc.bcm.edu	37	12	53701653	53701655	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:53701653_53701655delGAA	ENST00000209873.4	-	15	1555_1557	c.1390_1392delTTC	c.(1390-1392)ttcdel	p.F464del	AAAS_ENST00000394384.3_In_Frame_Del_p.F431del|AAAS_ENST00000549983.1_5'Flank|AAAS_ENST00000550286.1_In_Frame_Del_p.F340del	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	464					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCTTTGTTGAAGGAAGGATGG	0.596																																																0																																										SO:0001651	inframe_deletion	8086			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.1390_1392delTTC	chr12.hg19:g.53701653_53701655delGAA	ENSP00000209873:p.Phe464del		Q5JB47|Q9NWI6|Q9UG19	In_Frame_Del	DEL	ENST00000209873.4	hg19	CCDS8856.1																																																																																				0.596	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			-	53701655	GAA	-	53701653	7	5	2	1	0	1	0	1	0	0	0	0	8	1281	45	0	256	0	AAAS	12	53701653	In_Frame_Del	DEL	GAA	TCGA-2Z-A9J1-01A-11D-A382-10	22445142	53701653	80150242	69	130											
OR6C1	390321	hgsc.bcm.edu	37	12	55714634	55714634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:55714634delT	ENST00000379668.2	+	1	289	c.251delT	c.(250-252)attfs	p.I84fs		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GGTAACATTATTTCAGGAGAT	0.388																																																0													60	63	62					12																	55714634		2202	4299	6501	SO:0001589	frameshift_variant	390321			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.251delT	chr12.hg19:g.55714634delT	ENSP00000368990:p.Ile84fs		B2RNM0	Frame_Shift_Del	DEL	ENST00000379668.2	hg19	CCDS31818.1																																																																																				0.388	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		-	55714634	T	-	55714634	7	5	2	1	0	1	0	1	0	0	0	0	11192	1493	52	0	253	0	OR6C1	12	55714634	Frame_Shift_Del	DEL	T	TCGA-2Z-A9J1-01A-11D-A382-10	2012981	55714634	78137261	70	131											
PAWR	5074	hgsc.bcm.edu	37	12	79988144	79988144	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:79988144C>G	ENST00000328827.4	-	6	1273	c.901G>C	c.(901-903)Gga>Cga	p.G301R		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	301	Leucine-zipper.				actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGAGTTTTCCAATCATTTCC	0.303																																																0													119	113	115					12																	79988144		2200	4296	6496	SO:0001583	missense	5074			U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"prostate apoptosis response-4"	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.901G>C	chr12.hg19:g.79988144C>G	ENSP00000328088:p.Gly301Arg		O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	ENST00000328827.4	hg19	CCDS31863.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013680	0.54468	.	.	ENSG00000177425	ENST00000328827;ENST00000550603	T;T	0.81415	2.46;-1.49	5.8	3.99	0.46301	.	0.639303	0.16466	N	0.213178	T	0.72614	0.3482	L	0.29908	0.895	0.44728	D	0.997724	P	0.41929	0.765	P	0.45406	0.479	T	0.65311	-0.6199	9	.	.	.	-5.6848	7.9645	0.30091	0.0:0.7279:0.1308:0.1413	.	301	Q96IZ0	PAWR_HUMAN	R	301;32	ENSP00000328088:G301R;ENSP00000447507:G32R	.	G	-	1	0	PAWR	78512275	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	2.388000	0.44398	0.802000	0.34089	0.563000	0.77884	GGA		0.303	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		G	79988144	C	G	79988144	3	3	2	1	0	0	0	0	1	0	0	0	11479	603	21	4	129	4	PAWR	12	79988144	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	24273510	79988144	53863751	71	132											
MYO1H	283446	hgsc.bcm.edu	37	12	109843836	109843836	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:109843836C>T	ENST00000431443.2	+	7	911	c.911C>T	c.(910-912)gCc>gTc	p.A304V	MYO1H_ENST00000310903.5_Missense_Mutation_p.A304V|MYO1H_ENST00000542883.1_3'UTR	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	304	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAGTGGATAGCCAAGGTGATG	0.522																																																0													65	61	62					12																	109843836		1955	4143	6098	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.911C>T	chr12.hg19:g.109843836C>T	ENSP00000444076:p.Ala304Val		F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.232509	0.95207	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.90955	-2.76;-2.76	4.88	4.88	0.63580	.	.	.	.	.	D	0.92928	0.7750	M	0.91249	3.19	0.41761	D	0.989713	P	0.39903	0.694	B	0.39094	0.29	D	0.94791	0.7962	9	0.87932	D	0	.	17.4368	0.87554	0.0:1.0:0.0:0.0	.	304	F5H3C6	.	V	304	ENSP00000439182:A304V;ENSP00000444076:A304V	ENSP00000439182:A304V	A	+	2	0	MYO1H	108328219	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.046000	0.76592	2.439000	0.82584	0.650000	0.86243	GCC		0.522	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		T	109843836	C	T	109843836	3	4	2	1	0	0	0	0	1	0	0	0	10077	739	26	2	937	2	MYO1H	12	109843836	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	29855692	109843836	24008059	72	133											
RIMBP2	23504	hgsc.bcm.edu	37	12	130921587	130921587	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr12:130921587C>T	ENST00000261655.4	-	10	2018	c.1855G>A	c.(1855-1857)Gcc>Acc	p.A619T	RIMBP2_ENST00000535703.1_Missense_Mutation_p.A527T|RIMBP2_ENST00000536002.1_Missense_Mutation_p.A527T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	619	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A619S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCATCCTGGCGTGGGGACCC	0.667																																																1	Substitution - Missense(1)	lung(1)											66	57	60					12																	130921587		2203	4300	6503	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1855G>A	chr12.hg19:g.130921587C>T	ENSP00000261655:p.Ala619Thr		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	hg19	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	1.099	-0.661600	0.03454	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.19669	2.13;2.98;2.98	4.23	-2.05	0.07321	.	2.528880	0.01158	N	0.006570	T	0.12220	0.0297	N	0.22421	0.69	0.09310	N	1	B;B;B	0.28128	0.103;0.201;0.007	B;B;B	0.24269	0.017;0.052;0.001	T	0.13388	-1.0511	10	0.14252	T	0.57	.	4.7566	0.13086	0.2207:0.3515:0.0:0.4278	.	527;527;619	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	T	619;527;527;527	ENSP00000261655:A619T;ENSP00000440347:A527T;ENSP00000439159:A527T	ENSP00000261655:A619T	A	-	1	0	RIMBP2	129487540	0.000000	0.05858	0.009000	0.14445	0.258000	0.26162	-0.349000	0.07731	-0.046000	0.13446	0.561000	0.74099	GCC		0.667	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130921587	C	T	130921587	3	4	2	1	0	0	0	0	1	0	0	0	13369	768	27	1	1343	1	RIMBP2	12	130921587	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	21077751	130921587	2930308	73	134											
NBEA	26960	hgsc.bcm.edu	37	13	36229093	36229093	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr13:36229093A>G	ENST00000400445.3	+	53	8608	c.8074A>G	c.(8074-8076)Att>Gtt	p.I2692V	NBEA_ENST00000310336.4_Missense_Mutation_p.I2692V|NBEA_ENST00000379939.2_Missense_Mutation_p.I2689V|NBEA_ENST00000537702.1_Missense_Mutation_p.I485V|NBEA_ENST00000540320.1_Missense_Mutation_p.I2692V|NBEA_ENST00000379922.3_Missense_Mutation_p.I270V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2692					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAATCGCTATATTCTTATCTG	0.363																																																0													90	87	88					13																	36229093		1855	4090	5945	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8074A>G	chr13.hg19:g.36229093A>G	ENSP00000383295:p.Ile2692Val		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304230	0.40795	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.65	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048458	0.85682	N	0.000000	T	0.26521	0.0648	L	0.37800	1.135	0.58432	D	0.999999	B;P;B	0.39748	0.034;0.686;0.112	B;B;B	0.42738	0.035;0.396;0.168	T	0.02437	-1.1159	10	0.24483	T	0.36	.	9.9577	0.41678	0.9158:0.0:0.0842:0.0	.	2692;270;2689	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	V	2692;2692;2689;2692;1319;270;485;270	ENSP00000440951:I2692V;ENSP00000383295:I2692V;ENSP00000369271:I2689V;ENSP00000308534:I2692V;ENSP00000440233:I485V;ENSP00000369254:I270V	ENSP00000308534:I2692V	I	+	1	0	NBEA	35127093	1.000000	0.71417	0.995000	0.50966	0.781000	0.44180	6.181000	0.71988	0.961000	0.38030	0.533000	0.62120	ATT		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		G	36229093	A	G	36229093	3	3	2	1	0	0	0	0	1	0	0	0	10189	449	16	3	8284	3	NBEA	13	36229093	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10		36229093	78940785	74	135											
LMO7	4008	hgsc.bcm.edu	37	13	76381810	76381810	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr13:76381810T>G	ENST00000321797.8	+	8	1413	c.692T>G	c.(691-693)tTt>tGt	p.F231C	LMO7_ENST00000465261.2_Missense_Mutation_p.F231C|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.F516C|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.F516C|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	516					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GATGATTTCTTTGTCAGAAAG	0.443																																																0													86	81	83					13																	76381810		1568	3582	5150	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.692T>G	chr13.hg19:g.76381810T>G	ENSP00000317802:p.Phe231Cys		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	hg19		.	.	.	.	.	.	.	.	.	.	T	22.4	4.281530	0.80692	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526528	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.83	5.83	0.93111	.	0.053706	0.85682	D	0.000000	T	0.73590	0.3606	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.936	T	0.76599	-0.2900	10	0.87932	D	0	-19.7539	16.1968	0.82036	0.0:0.0:0.0:1.0	.	516;231	Q8WWI1;E9PLH4	LMO7_HUMAN;.	C	516;516;231;231;137	ENSP00000349571:F516C;ENSP00000366757:F516C;ENSP00000317802:F231C;ENSP00000433352:F231C	ENSP00000317802:F231C	F	+	2	0	LMO7	75279811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.225000	0.72522	0.533000	0.62120	TTT		0.443	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		G	76381810	T	G	76381810	3	3	2	1	0	0	0	0	1	0	0	0	8857	1841	64	5	1589	5	LMO7	13	76381810	Missense_Mutation	SNP	T	TCGA-2Z-A9J1-01A-11D-A382-10	40152717	76381810	38788068	75	136											
RNF219	79596	hgsc.bcm.edu	37	13	79219122	79219122	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr13:79219122G>T	ENST00000282003.6	-	2	141	c.83C>A	c.(82-84)cCt>cAt	p.P28H		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	28							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCATATGACAGGCTGACGTAC	0.378																																																0													133	117	123					13																	79219122		2203	4300	6503	SO:0001583	missense	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.83C>A	chr13.hg19:g.79219122G>T	ENSP00000282003:p.Pro28His		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	hg19	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719656	0.89205	.	.	ENSG00000152193	ENST00000282003	T	0.30714	1.52	5.66	5.66	0.87406	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69569	-0.5110	10	0.87932	D	0	-11.4156	19.7324	0.96188	0.0:0.0:1.0:0.0	.	28	Q5W0B1	RN219_HUMAN	H	28	ENSP00000282003:P28H	ENSP00000282003:P28H	P	-	2	0	RNF219	78117123	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.230000	0.95299	2.663000	0.90544	0.655000	0.94253	CCT		0.378	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		T	79219122	G	T	79219122	3	4	2	1	0	0	0	0	1	0	0	0	13488	1000	35	4	2117	4	RNF219	13	79219122	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	2837312	79219122	35950756	76	137											
ESR2	2100	hgsc.bcm.edu	37	14	64699969	64699969	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr14:64699969C>A	ENST00000341099.4	-	9	1896	c.1479G>T	c.(1477-1479)gaG>gaT	p.E493D	ESR2_ENST00000553796.1_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.E402D|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	493	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CATTCAGCATCTCCAGCAGCA	0.542																																																0													183	151	162					14																	64699969		2203	4300	6503	SO:0001583	missense	2100			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1479G>T	chr14.hg19:g.64699969C>A	ENSP00000343925:p.Glu493Asp		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	hg19	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218986	0.79464	.	.	ENSG00000140009	ENST00000341099;ENST00000267525	D;T	0.92149	-2.98;0.13	5.68	5.68	0.88126	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.87758	2.905	0.32928	D	0.51671	D;D	0.89917	1.0;0.978	D;D	0.83275	0.996;0.913	D	0.98321	1.0528	10	0.87932	D	0	.	14.0109	0.64495	0.0:0.928:0.0:0.072	.	402;493	Q92731-7;Q92731	.;ESR2_HUMAN	D	493;402	ENSP00000343925:E493D;ENSP00000267525:E402D	ENSP00000267525:E402D	E	-	3	2	ESR2	63769722	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.875000	0.48491	2.683000	0.91414	0.561000	0.74099	GAG		0.542	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			A	64699969	C	A	64699969	3	1	2	1	0	0	0	0	1	0	0	0	5259	912	32	4	203	4	ESR2	14	64699969	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10		64699969	42649571	77	138											
MGA	23269	hgsc.bcm.edu	37	15	41988958	41988958	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr15:41988958G>C	ENST00000570161.1	+	2	1750	c.1750G>C	c.(1750-1752)Ggc>Cgc	p.G584R	MGA_ENST00000389936.4_Missense_Mutation_p.G584R|MGA_ENST00000545763.1_Missense_Mutation_p.G584R|MGA_ENST00000566586.1_Missense_Mutation_p.G584R|MGA_ENST00000219905.7_Missense_Mutation_p.G584R			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGAGGACTTGGGCAGAAAGAG	0.428																																																0													40	36	37					15																	41988958		1893	4128	6021	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1750G>C	chr15.hg19:g.41988958G>C	ENSP00000457035:p.Gly584Arg		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414212	0.62511	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.87809	-2.26;-2.3;-2.18	5.23	4.3	0.51218	.	2.318350	0.01436	N	0.014901	D	0.90854	0.7127	L	0.34521	1.04	0.29365	N	0.864383	D;D	0.76494	0.999;0.964	D;P	0.71656	0.974;0.691	T	0.77133	-0.2700	10	0.87932	D	0	.	10.1653	0.42877	0.0744:0.1383:0.7873:0.0	.	584;584	F5H7K2;E7ENI0	.;.	R	584	ENSP00000219905:G584R;ENSP00000374586:G584R;ENSP00000442467:G584R	ENSP00000219905:G584R	G	+	1	0	MGA	39776250	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.246000	0.51414	1.178000	0.42870	0.462000	0.41574	GGC		0.428	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		C	41988958	G	C	41988958	3	2	2	1	0	0	0	0	1	0	0	0	9542	1232	43	4	1756	4	MGA	15	41988958	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10		41988958	60542434	78	139											
FLYWCH1	84256	hgsc.bcm.edu	37	16	2980631	2980631	+	Silent	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr16:2980631G>A	ENST00000253928.9	+	4	951	c.546G>A	c.(544-546)gaG>gaA	p.E182E	FLYWCH1_ENST00000399667.2_Silent_p.E182E|FLYWCH1_ENST00000416288.2_Silent_p.E181E			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	182						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						AAGGCCTGGAGGCCCGGCGCC	0.731																																																0													4	4	4					16																	2980631		1763	3796	5559	SO:0001819	synonymous_variant	84256			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.546G>A	chr16.hg19:g.2980631G>A			D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Silent	SNP	ENST00000253928.9	hg19																																																																																					0.731	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		A	2980631	G	A	2980631	2	1	2	1	0	0	0	0	0	0	0	1	5949	991	35	2		2	FLYWCH1	16	2980631	Silent	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10		2980631	87374122	79	140											
PLLP	51090	hgsc.bcm.edu	37	16	57292497	57292497	+	Splice_Site	DEL	C	C	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr16:57292497delC	ENST00000219207.5	-	3	456		c.e3-1		PLLP_ENST00000569059.1_Splice_Site	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin						ion transport (GO:0006811)|myelination (GO:0042552)|response to wounding (GO:0009611)	compact myelin (GO:0043218)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)				endometrium(1)|prostate(1)	2						AGATCATTAACTGCAGGACAT	0.562																																																0													79	77	78					16																	57292497		2198	4300	6498	SO:0001630	splice_region_variant	51090			AF137386	CCDS10777.1	16q13	2010-06-24	2010-06-24	2005-03-21	ENSG00000102934	ENSG00000102934			18553	protein-coding gene	gene with protein product	"plasma membrane proteolipid"	600340	"transmembrane 4 superfamily member 11 (plasmolipin)", "plasma membrane proteolipid (plasmolipin)"	TM4SF11		11707781	Standard	NM_015993		Approved	PMLP	uc002elg.2	Q9Y342	OTTHUMG00000133465	ENST00000219207.5:c.310-1G>-	chr16.hg19:g.57292497delC			B2R9T6	Frame_Shift_Del	DEL	ENST00000219207.5	hg19	CCDS10777.1																																																																																				0.562	PLLP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257341.2		Intron	-	57292497	C	-	57292497	8	5	2	1	0	1	0	1	0	0	1	0	12101	579	20	0	247	0	PLLP	16	57292497	Splice_Site	DEL	C	TCGA-2Z-A9J1-01A-11D-A382-10	54311866	57292497	33062256	80	141											
HYDIN	54768	hgsc.bcm.edu	37	16	71163576	71163576	+	Silent	SNP	C	C	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr16:71163576C>G	ENST00000393567.2	-	9	1344	c.1194G>C	c.(1192-1194)ctG>ctC	p.L398L	HYDIN_ENST00000393550.2_Silent_p.L398L|HYDIN_ENST00000541601.1_Silent_p.L415L|HYDIN_ENST00000448691.1_Silent_p.L398L|HYDIN_ENST00000288168.10_Silent_p.L415L|HYDIN_ENST00000321489.5_Silent_p.L398L|HYDIN_ENST00000448089.2_Silent_p.L398L|HYDIN_ENST00000538248.1_Silent_p.L425L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	398					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TATTGAAGAACAGCTTGCTGT	0.458																																																0													59	58	58					16																	71163576		2198	4300	6498	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1194G>C	chr16.hg19:g.71163576C>G			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	hg19	CCDS59269.1																																																																																				0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	71163576	C	G	71163576	2	3	2	1	0	0	0	0	0	0	0	1	7469	465	17	4		4	HYDIN	16	71163576	Silent	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	13871079	71163576	19191177	81	142											
DNAH2	146754	hgsc.bcm.edu	37	17	7663108	7663108	+	Splice_Site	DEL	G	G	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr17:7663108delG	ENST00000572933.1	+	17	4097		c.e17-1		DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTTCCTCACAGGTGGAATTCT	0.517																																																0													200	181	188					17																	7663108		2203	4300	6503	SO:0001630	splice_region_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2638-1G>-	chr17.hg19:g.7663108delG			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	DEL	ENST00000572933.1	hg19	CCDS32551.1																																																																																				0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Intron	-	7663108	G	-	7663108	8	5	2	1	0	1	0	1	0	0	1	0	4604	1014	35	0	2699	0	DNAH2	17	7663108	Splice_Site	DEL	G	TCGA-2Z-A9J1-01A-11D-A382-10		7663108	73532102	82	143											
GJD3	125111	hgsc.bcm.edu	37	17	38519536	38519536	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr17:38519536C>T	ENST00000578689.1	-	1	531	c.532G>A	c.(532-534)Gac>Aac	p.D178N	CTD-2267D19.3_ENST00000578774.1_Silent_p.V116V|GJD3_ENST00000337376.4_Missense_Mutation_p.D178N	NM_152219.3	NP_689343.3	Q8N144	CXD3_HUMAN	gap junction protein, delta 3, 31.9kDa	178					cell communication (GO:0007154)|gap junction assembly (GO:0016264)	cell surface (GO:0009986)|connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)						Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			ACGAAGCAGTCGACCGTGTGC	0.706																																																0													2	3	2					17																	38519536		1475	3103	4578	SO:0001583	missense	125111			AF514298	CCDS58547.1	17q21.1	2012-04-19	2007-11-06	2007-11-06	ENSG00000183153	ENSG00000183153		"Ion channels / Gap junction proteins (connexins)"	19147	protein-coding gene	gene with protein product	"connexin 31.9"	607425	"gap junction protein, chi 1, 31.9kDa"	GJC1		12176752	Standard	NM_152219		Approved	CX31.9, GJA11, Cx30.2	uc010cwz.3	Q8N144		ENST00000578689.1:c.532G>A	chr17.hg19:g.38519536C>T	ENSP00000463752:p.Asp178Asn		Q6ZUW6	Missense_Mutation	SNP	ENST00000578689.1	hg19	CCDS58547.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595832	0.86953	.	.	ENSG00000183153	ENST00000337376	D	0.96265	-3.96	3.43	3.43	0.39272	Gap junction protein, cysteine-rich domain (1);Connexin, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.97117	0.9058	L	0.59912	1.85	0.48185	D	0.9996	D	0.89917	1.0	D	0.80764	0.994	D	0.96558	0.9413	10	0.39692	T	0.17	.	14.649	0.68784	0.0:1.0:0.0:0.0	.	178	Q8N144	CXD3_HUMAN	N	178	ENSP00000336832:D178N	ENSP00000336832:D178N	D	-	1	0	GJD3	35773062	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	3.330000	0.52068	1.760000	0.52011	0.313000	0.20887	GAC		0.706	GJD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447449.1	NM_152219		T	38519536	C	T	38519536	3	4	2	1	0	0	0	0	1	0	0	0	6420	884	31	1	356	1	GJD3	17	38519536	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	30856428	38519536	42675674	83	144											
KRT13	3860	hgsc.bcm.edu	37	17	39657556	39657556	+	Silent	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr17:39657556G>T	ENST00000246635.3	-	8	1375	c.1329C>A	c.(1327-1329)acC>acA	p.T443T	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_3'UTR	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	443	Tail.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CATTAGAGGTGGTGGTAACAG	0.572																																																0													66	50	56					17																	39657556		2199	4292	6491	SO:0001819	synonymous_variant	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1329C>A	chr17.hg19:g.39657556G>T			Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	hg19	CCDS11396.1																																																																																				0.572	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		T	39657556	G	T	39657556	2	4	2	1	0	0	0	0	0	0	0	1	8452	1335	47	4		4	KRT13	17	39657556	Silent	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	1138020	39657556	41537654	84	145											
PCYT2	5833	hgsc.bcm.edu	37	17	79865660	79865660	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr17:79865660G>T	ENST00000538936.2	-	5	589	c.481C>A	c.(481-483)Cac>Aac	p.H161N	PCYT2_ENST00000331285.3_Missense_Mutation_p.H83N|PCYT2_ENST00000538721.2_Missense_Mutation_p.H161N|PCYT2_ENST00000570388.1_Missense_Mutation_p.H83N|PCYT2_ENST00000571105.1_Missense_Mutation_p.H161N|PCYT2_ENST00000570391.1_Missense_Mutation_p.H129N	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	161					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	TGGCTGCTGTGATGGGCTTTG	0.662																																																0													65	52	56					17																	79865660		2203	4300	6503	SO:0001583	missense	5833			D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.481C>A	chr17.hg19:g.79865660G>T	ENSP00000439245:p.His161Asn		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	hg19	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332723	0.81801	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.34	4.34	0.51931	.	0.052098	0.85682	D	0.000000	T	0.71660	0.3366	M	0.78456	2.415	0.80722	D	1	P;B;P;D;D	0.54772	0.791;0.129;0.541;0.968;0.968	P;B;B;P;P	0.51453	0.449;0.029;0.157;0.67;0.67	T	0.73375	-0.4002	9	0.32370	T	0.25	-36.5261	17.0425	0.86493	0.0:0.0:1.0:0.0	.	129;129;161;83;161	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	N	161;161;83	.	ENSP00000331719:H83N	H	-	1	0	PCYT2	77458952	1.000000	0.71417	0.926000	0.36857	0.658000	0.38924	7.146000	0.77373	2.233000	0.73108	0.561000	0.74099	CAC		0.662	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		T	79865660	G	T	79865660	3	4	2	1	0	0	0	0	1	0	0	0	11614	1290	45	4	782	4	PCYT2	17	79865660	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	40208104	79865660	1329550	85	146											
FOXK2	3607	hgsc.bcm.edu	37	17	80477826	80477826	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr17:80477826G>C	ENST00000335255.5	+	1	236	c.62G>C	c.(61-63)gGg>gCg	p.G21A		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	21	Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ggcggggccgggggcggcggg	0.846																																																0													1	1	1					17																	80477826		122	223	345	SO:0001583	missense	3607			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"Forkhead boxes"	6036	protein-coding gene	gene with protein product		147685	"interleukin enhancer binding factor 1"	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.62G>C	chr17.hg19:g.80477826G>C	ENSP00000335677:p.Gly21Ala		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	hg19	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	.	2.177	-0.388435	0.04932	.	.	ENSG00000141568	ENST00000335255;ENST00000335241	D	0.93076	-3.16	1.8	1.8	0.24995	.	.	.	.	.	D	0.89375	0.6697	N	0.08118	0	0.25222	N	0.98989	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.68621	0.959;0.91;0.959	T	0.80350	-0.1419	9	0.14252	T	0.57	.	6.724	0.23346	0.0:0.0:1.0:0.0	.	21;21;21	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	A	21	ENSP00000335677:G21A	ENSP00000334321:G21A	G	+	2	0	FOXK2	78071115	0.917000	0.31117	0.403000	0.26384	0.773000	0.43773	0.923000	0.28757	0.820000	0.34516	0.486000	0.48141	GGG		0.846	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		C	80477826	G	C	80477826	3	2	2	1	0	0	0	0	1	0	0	0	6017	1232	43	4	64	4	FOXK2	17	80477826	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	612166	80477826	717384	86	147											
MUM1	84939	hgsc.bcm.edu	37	19	1371012	1371012	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:1371012G>A	ENST00000415183.3	+	11	1950	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	MUM1_ENST00000591806.1_Missense_Mutation_p.A642T|MUM1_ENST00000344663.3_Missense_Mutation_p.A642T|MUM1_ENST00000311401.5_Missense_Mutation_p.A573T			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	641					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGTGGGGGCCAAGGTGCT	0.657																																																0													57	41	46					19																	1371012		2185	4281	6466	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1924G>A	chr19.hg19:g.1371012G>A	ENSP00000394925:p.Ala642Thr		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	hg19		.	.	.	.	.	.	.	.	.	.	G	11.35	1.612141	0.28712	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.41400	1.0;1.0;1.0	4.82	-3.93	0.04143	.	1.208560	0.05866	N	0.623862	T	0.18841	0.0452	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.31077	0.022;0.085;0.307;0.048	B;B;B;B	0.23275	0.01;0.01;0.045;0.02	T	0.11397	-1.0589	10	0.17369	T	0.5	.	4.9552	0.14035	0.3899:0.0:0.3792:0.2309	.	642;642;573;641	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	T	642;573;642	ENSP00000345789:A642T;ENSP00000309135:A573T;ENSP00000394925:A642T	ENSP00000309135:A573T	A	+	1	0	MUM1	1322012	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.289000	0.08365	-1.136000	0.02892	-0.379000	0.06801	GCC		0.657	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		A	1371012	G	A	1371012	3	1	2	1	0	0	0	0	1	0	0	0	9987	1203	42	2	1966	2	MUM1	19	1371012	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10		1371012	57757971	87	148											
NFIC	4782	hgsc.bcm.edu	37	19	3449135	3449135	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:3449135G>T	ENST00000443272.2	+	7	1133	c.1082G>T	c.(1081-1083)aGc>aTc	p.S361I	NFIC_ENST00000395111.3_Missense_Mutation_p.S352I|NFIC_ENST00000590282.1_Missense_Mutation_p.S361I|NFIC_ENST00000341919.3_Missense_Mutation_p.S361I|NFIC_ENST00000589123.1_Missense_Mutation_p.S352I|NFIC_ENST00000346156.5_Missense_Mutation_p.S328I|NFIC_ENST00000586919.1_Missense_Mutation_p.S328I	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	361					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GCCGTGCACAGCGGTAAGCGC	0.672																																																0													61	45	50					19																	3449135		2203	4299	6502	SO:0001583	missense	4782			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1082G>T	chr19.hg19:g.3449135G>T	ENSP00000396843:p.Ser361Ile		A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	hg19	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600339	0.87055	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.52526	0.66;0.66;0.66	3.96	3.96	0.45880	.	0.099564	0.64402	D	0.000002	T	0.63307	0.2500	L	0.55481	1.735	0.52099	D	0.999941	D;D;B;D;P	0.76494	0.968;0.999;0.386;0.997;0.822	P;D;B;D;B	0.87578	0.81;0.998;0.085;0.994;0.359	T	0.67401	-0.5680	10	0.66056	D	0.02	.	14.6163	0.68552	0.0:0.0:1.0:0.0	.	361;361;352;361;352	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	I	352;352;328;361;361;361	ENSP00000378543:S352I;ENSP00000301935:S328I;ENSP00000342194:S361I	ENSP00000269778:S361I	S	+	2	0	NFIC	3400135	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.952000	0.93031	1.764000	0.52075	0.561000	0.74099	AGC		0.672	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		T	3449135	G	T	3449135	3	4	2	1	0	0	0	0	1	0	0	0	10374	971	34	4	1115	4	NFIC	19	3449135	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	2078123	3449135	55679848	88	149											
PLIN4	729359	hgsc.bcm.edu	37	19	4511775	4511775	+	Missense_Mutation	SNP	C	C	G	rs368515268		TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:4511775C>G	ENST00000301286.3	-	3	2154	c.2155G>C	c.(2155-2157)Gtc>Ctc	p.V719L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	719	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCACTGCAGACGGTGTCCTTG	0.572																																																0													215	218	217					19																	4511775		2100	4210	6310	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2155G>C	chr19.hg19:g.4511775C>G	ENSP00000301286:p.Val719Leu		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	hg19	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662091	0.29515	.	.	ENSG00000167676	ENST00000301286	T	0.08102	3.13	4.59	2.38	0.29361	.	0.438854	0.16196	N	0.225159	T	0.11367	0.0277	M	0.83692	2.655	0.09310	N	0.999998	B	0.12630	0.006	B	0.13407	0.009	T	0.41858	-0.9485	10	0.12766	T	0.61	-8.0371	8.0958	0.30826	0.0:0.7475:0.1587:0.0938	.	719	Q96Q06	PLIN4_HUMAN	L	719	ENSP00000301286:V719L	ENSP00000301286:V719L	V	-	1	0	PLIN4	4462775	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-2.421000	0.01031	0.336000	0.23639	0.205000	0.17691	GTC		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		G	4511775	C	G	4511775	3	3	2	1	0	0	0	0	1	0	0	0	12094	536	19	4	1934	4	PLIN4	19	4511775	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	1062640	4511775	54617208	89	150											
ZNF709	163051	hgsc.bcm.edu	37	19	12575506	12575506	+	Silent	SNP	A	A	G			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:12575506A>G	ENST00000397732.3	-	4	1401	c.1230T>C	c.(1228-1230)caT>caC	p.H410H	ZNF709_ENST00000428311.1_Silent_p.H410H|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GAGTTCTTTCATGCATTCGAA	0.413																																					GBM(33;565 669 12371 29134 51667)											0													104	108	106					19																	12575506		2201	4299	6500	SO:0001819	synonymous_variant	163051			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1230T>C	chr19.hg19:g.12575506A>G			A8K4E6	Silent	SNP	ENST00000397732.3	hg19	CCDS42504.1																																																																																				0.413	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		G	12575506	A	G	12575506	2	3	2	1	0	0	0	0	0	0	0	1	18118	214	8	3		3	ZNF709	19	12575506	Silent	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10	8063731	12575506	46553477	90	151											
SIN3B	23309	hgsc.bcm.edu	37	19	16974595	16974595	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:16974595C>T	ENST00000248054.5	+	10	1392	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	SIN3B_ENST00000595541.1_Silent_p.D47D|SIN3B_ENST00000379803.1_Silent_p.D489D					SIN3 transcription regulator family member B									p.D489D(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTGTGAGGACGAGCGCTTCG	0.617																																																1	Substitution - coding silent(1)	large_intestine(1)											114	83	93					19																	16974595		2203	4300	6503	SO:0001819	synonymous_variant	23309			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.1371C>T	chr19.hg19:g.16974595C>T				Silent	SNP	ENST00000248054.5	hg19																																																																																					0.617	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		T	16974595	C	T	16974595	2	4	2	1	0	0	0	0	0	0	0	1	14332	535	19	1		1	SIN3B	19	16974595	Silent	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	4399089	16974595	42154388	91	152											
PLVAP	83483	hgsc.bcm.edu	37	19	17471595	17471595	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:17471595delT	ENST00000252590.4	-	4	1287	c.1226delA	c.(1225-1227)aacfs	p.N409fs	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	409					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGCTGGGGGTTGGGGACAGG	0.627																																																0													52	54	53					19																	17471595		2203	4300	6503	SO:0001589	frameshift_variant	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1226delA	chr19.hg19:g.17471595delT	ENSP00000252590:p.Asn409fs		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Frame_Shift_Del	DEL	ENST00000252590.4	hg19	CCDS32952.1																																																																																				0.627	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		-	17471595	T	-	17471595	7	5	2	1	0	1	0	1	0	0	0	0	12118	1725	60	0	114	0	PLVAP	19	17471595	Frame_Shift_Del	DEL	T	TCGA-2Z-A9J1-01A-11D-A382-10	497000	17471595	41657388	92	153											
FKBP8	23770	hgsc.bcm.edu	37	19	18652713	18652713	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:18652713T>A	ENST00000596558.2	-	2	177	c.68A>T	c.(67-69)gAc>gTc	p.D23V	FKBP8_ENST00000222308.4_Missense_Mutation_p.D23V|FKBP8_ENST00000610101.1_Missense_Mutation_p.D23V|FKBP8_ENST00000597960.3_Missense_Mutation_p.D23V|FKBP8_ENST00000608443.1_Missense_Mutation_p.D23V|FKBP8_ENST00000453489.2_Missense_Mutation_p.D52V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	23	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TACCTCGAAGTCCTCGAGCGG	0.632																																																0													37	31	33					19																	18652713		2203	4300	6503	SO:0001583	missense	23770			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.68A>T	chr19.hg19:g.18652713T>A	ENSP00000472302:p.Asp23Val		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	hg19		.	.	.	.	.	.	.	.	.	.	T	8.207	0.799502	0.16397	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.44083	0.93;1.28;1.1	3.13	2.1	0.27182	.	0.058219	0.64402	D	0.000003	T	0.26738	0.0654	L	0.29908	0.895	0.35397	D	0.791268	P;B;B	0.35982	0.531;0.308;0.434	B;B;B	0.36030	0.216;0.051;0.11	T	0.23226	-1.0194	10	0.41790	T	0.15	-23.4139	5.7686	0.18241	0.0:0.1377:0.0:0.8623	.	52;23;23	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	V	23;23;52	ENSP00000222308:D23V;ENSP00000441267:D23V;ENSP00000388891:D52V	ENSP00000222308:D23V	D	-	2	0	FKBP8	18513713	1.000000	0.71417	0.999000	0.59377	0.075000	0.17131	1.562000	0.36353	0.621000	0.30232	0.402000	0.26972	GAC		0.632	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		A	18652713	T	A	18652713	3	1	2	1	0	0	0	0	1	0	0	0	5916	1667	58	5	1205	5	FKBP8	19	18652713	Missense_Mutation	SNP	T	TCGA-2Z-A9J1-01A-11D-A382-10	1181118	18652713	40476270	93	154											
SFRS14	10147	hgsc.bcm.edu	37	19	19106049	19106049	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:19106049delT	ENST00000601879.1	-	9	3329	c.3032delA	c.(3031-3033)gatfs	p.D1011fs	SUGP2_ENST00000600377.1_Frame_Shift_Del_p.D1025fs|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.D1011fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.D1011fs|AC004447.2_ENST00000594142.1_RNA|SUGP2_ENST00000456085.2_Frame_Shift_Del_p.D780fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	1011	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGGTTCTTATCGGTCAGCTT	0.602																																																0													66	53	58					19																	19106049		2203	4300	6503	SO:0001589	frameshift_variant	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.3032delA	chr19.hg19:g.19106049delT	ENSP00000472286:p.Asp1011fs		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Frame_Shift_Del	DEL	ENST00000601879.1	hg19	CCDS12392.1																																																																																				0.602	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		-	19106049	T	-	19106049	7	5	2	1	0	1	0	1	0	0	0	0	14176	1435	50	0	224	0	SFRS14	19	19106049	Frame_Shift_Del	DEL	T	TCGA-2Z-A9J1-01A-11D-A382-10	453336	19106049	40022934	94	155											
GPATCH1	55094	hgsc.bcm.edu	37	19	33600735	33600735	+	Silent	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:33600735C>T	ENST00000170564.2	+	11	1712	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	466					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGAGTCTGGCCCAGAACGCTC	0.537																																					Pancreas(67;88 1713 4567 18227)											0													45	47	46					19																	33600735		2203	4300	6503	SO:0001819	synonymous_variant	55094			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1398C>T	chr19.hg19:g.33600735C>T			Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	hg19	CCDS12428.1																																																																																				0.537	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		T	33600735	C	T	33600735	2	4	2	1	0	0	0	0	0	0	0	1	6592	610	22	2		2	GPATCH1	19	33600735	Silent	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	14494686	33600735	25528248	95	156											
STRN4	29888	hgsc.bcm.edu	37	19	47226540	47226540	+	Splice_Site	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:47226540G>A	ENST00000263280.6	-	13	1645	c.1596C>T	c.(1594-1596)gaC>gaT	p.D532D	STRN4_ENST00000539396.1_Splice_Site_p.D413D|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000391910.3_Splice_Site_p.D539D	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	532						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GCACGCTTGGGTCTGCACCCA	0.697																																																0													18	17	17					19																	47226540		2111	4136	6247	SO:0001630	splice_region_variant	29888			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1595-1C>T	chr19.hg19:g.47226540G>A			A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	hg19	CCDS12690.1																																																																																				0.697	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2		Silent	A	47226540	G	A	47226540	5	1	2	1	0	0	0	0	0	0	1	0	15336	1275	44	2	685	2	STRN4	19	47226540	Splice_Site	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	13625805	47226540	11902443	96	157											
ZNF543	125919	hgsc.bcm.edu	37	19	57839668	57839668	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr19:57839668G>A	ENST00000321545.4	+	4	1183	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACAGTGGAGAGAAGCCTTA	0.522																																																0													54	53	53					19																	57839668		2203	4300	6503	SO:0001583	missense	125919			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.838G>A	chr19.hg19:g.57839668G>A	ENSP00000322545:p.Glu280Lys		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	hg19	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967976	0.53507	.	.	ENSG00000178229	ENST00000321545	T	0.24350	1.86	2.58	1.54	0.23209	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33147	0.0853	N	0.25245	0.725	0.27992	N	0.935614	D	0.89917	1.0	D	0.91635	0.999	T	0.13683	-1.0500	9	0.87932	D	0	.	8.9097	0.35546	0.1221:0.0:0.8779:0.0	.	280	Q08ER8	ZN543_HUMAN	K	280	ENSP00000322545:E280K	ENSP00000322545:E280K	E	+	1	0	ZNF543	62531480	1.000000	0.71417	0.436000	0.26797	0.434000	0.31775	4.493000	0.60341	0.650000	0.30769	0.561000	0.74099	GAG		0.522	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		A	57839668	G	A	57839668	3	1	2	1	0	0	0	0	1	0	0	0	17981	943	33	2	852	2	ZNF543	19	57839668	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	10613128	57839668	1289315	97	158											
KCNB1	3745	hgsc.bcm.edu	37	20	47991224	47991224	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr20:47991224A>T	ENST00000371741.4	-	2	1039	c.873T>A	c.(871-873)aaT>aaA	p.N291K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	291					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CGCGGCGGACATTCTGGAATT	0.532																																																0													89	84	86					20																	47991224		2203	4300	6503	SO:0001583	missense	3745			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.873T>A	chr20.hg19:g.47991224A>T	ENSP00000360806:p.Asn291Lys		Q14193	Missense_Mutation	SNP	ENST00000371741.4	hg19	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877204	0.51801	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97553	-4.43	6.02	-12.0	0.00017	Ion transport (1);	0.099189	0.64402	D	0.000003	D	0.96494	0.8856	L	0.39397	1.21	0.36927	D	0.891708	D	0.89917	1.0	D	0.79108	0.992	D	0.96575	0.9426	10	0.72032	D	0.01	.	22.2779	0.99969	0.8078:0.0:0.1922:0.0	.	291	Q14721	KCNB1_HUMAN	K	291;246	ENSP00000360806:N291K	ENSP00000360806:N291K	N	-	3	2	KCNB1	47424631	0.000000	0.05858	0.114000	0.21550	0.973000	0.67179	-1.491000	0.02302	-2.492000	0.00516	-0.912000	0.02778	AAT		0.532	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		T	47991224	A	T	47991224	3	4	2	1	0	0	0	0	1	0	0	0	8014	214	8	5	1707	5	KCNB1	20	47991224	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10		47991224	15034296	98	159											
ZNF831	128611	hgsc.bcm.edu	37	20	57829325	57829325	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr20:57829325G>C	ENST00000371030.2	+	5	4561	c.4561G>C	c.(4561-4563)Ggg>Cgg	p.G1521R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1521							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAGACTGCAGGGAGGACTCT	0.517																																																0													40	44	42					20																	57829325		2112	4245	6357	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4561G>C	chr20.hg19:g.57829325G>C	ENSP00000360069:p.Gly1521Arg		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591315	0.46214	.	.	ENSG00000124203	ENST00000371030	T	0.04654	3.58	5.46	1.13	0.20643	.	0.926151	0.09118	N	0.846118	T	0.05914	0.0154	L	0.57536	1.79	0.09310	N	1	B	0.19583	0.037	B	0.12837	0.008	T	0.39292	-0.9621	10	0.54805	T	0.06	-4.3833	3.834	0.08886	0.2676:0.0:0.5651:0.1673	.	1521	Q5JPB2	ZN831_HUMAN	R	1521	ENSP00000360069:G1521R	ENSP00000360069:G1521R	G	+	1	0	ZNF831	57262720	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.188000	0.09642	0.291000	0.22468	0.650000	0.86243	GGG		0.517	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		C	57829325	G	C	57829325	3	2	2	1	0	0	0	0	1	0	0	0	18190	1000	35	4	4579	4	ZNF831	20	57829325	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10	9838101	57829325	5196195	99	160											
RWDD2B	10069	hgsc.bcm.edu	37	21	30378846	30378846	+	Silent	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr21:30378846A>T	ENST00000493196.1	-	5	952	c.852T>A	c.(850-852)gtT>gtA	p.V284V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	284										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TGGCTCCATTAACACTGAACA	0.388																																																0													124	112	116					21																	30378846		2203	4300	6503	SO:0001819	synonymous_variant	10069			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 6"	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.852T>A	chr21.hg19:g.30378846A>T				Silent	SNP	ENST00000493196.1	hg19	CCDS13582.1																																																																																				0.388	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			T	30378846	A	T	30378846	2	4	2	1	0	0	0	0	0	0	0	1	13762	349	13	5		5	RWDD2B	21	30378846	Silent	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10		30378846	17751049	100	161											
TMEM50B	757	hgsc.bcm.edu	37	21	34841130	34841131	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr21:34841130_34841131delTC	ENST00000542230.2	-	2	276_277	c.62_63delGA	c.(61-63)agafs	p.R22fs		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	22						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						CAGCATTTCTTCTCTCACTCCA	0.396																																																0																																										SO:0001589	frameshift_variant	757			AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 4"	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.62_63delGA	chr21.hg19:g.34841134_34841135delTC	ENSP00000439768:p.Arg22fs		B2R4L4|D3DSF1|O60537|Q5PY47	Frame_Shift_Del	DEL	ENST00000542230.2	hg19	CCDS13625.1																																																																																				0.396	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			-	34841131	TC	-	34841130	7	5	2	1	0	1	0	1	0	0	0	0	16181	1780	62	0	437	0	TMEM50B	21	34841130	Frame_Shift_Del	DEL	TC	TCGA-2Z-A9J1-01A-11D-A382-10	4462284	34841130	13288765	101	162											
CSNK1E	1454	hgsc.bcm.edu	37	22	38694925	38694925	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chr22:38694925A>T	ENST00000396832.1	-	7	1011	c.751T>A	c.(751-753)Tac>Aac	p.Y251N	CSNK1E_ENST00000405675.3_Missense_Mutation_p.Y251N|CSNK1E_ENST00000359867.3_Missense_Mutation_p.Y251N|CSNK1E_ENST00000403904.1_Missense_Mutation_p.Y251N|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Missense_Mutation_p.Y251N|CSNK1E_ENST00000413574.2_Missense_Mutation_p.Y251N	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					AAGTTGAGGTATGTTGAGAAT	0.592																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)											0													167	155	159					22																	38694925		2203	4300	6503	SO:0001583	missense	1454				CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.751T>A	chr22.hg19:g.38694925A>T	ENSP00000380044:p.Tyr251Asn			Missense_Mutation	SNP	ENST00000396832.1	hg19	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.15|15.15	2.748201|2.748201	0.49257|0.49257	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000451964|ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675	.|T;T;T;T;T;T	.|0.12255	.|2.7;2.7;2.7;2.7;2.7;2.7	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.060906	.|0.64402	.|D	.|0.000002	T|T	0.58104|0.58104	0.2099|0.2099	H|H	0.99555|0.99555	4.625|4.625	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	T|T	0.78142|0.78142	-0.2319|-0.2319	5|10	.|0.87932	.|D	.|0	.|.	14.6566|14.6566	0.68838|0.68838	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|251;251;251	.|B0QY35;B0QY34;P49674	.|.;.;KC1E_HUMAN	Q|N	188|251	.|ENSP00000352929:Y251N;ENSP00000380044:Y251N;ENSP00000383067:Y251N;ENSP00000384074:Y251N;ENSP00000407235:Y251N;ENSP00000384426:Y251N	.|ENSP00000352929:Y251N	H|Y	-|-	3|1	2|0	CSNK1E|CSNK1E	37024871|37024871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	9.325000|9.325000	0.96381|0.96381	1.862000|1.862000	0.54008|0.54008	0.533000|0.533000	0.62120|0.62120	CAT|TAC		0.592	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		T	38694925	A	T	38694925	3	4	2	1	0	0	0	0	1	0	0	0	3955	449	16	5	515	5	CSNK1E	22	38694925	Missense_Mutation	SNP	A	TCGA-2Z-A9J1-01A-11D-A382-10		38694925	12609641	102	163											
P2RY8	286530	hgsc.bcm.edu	37	X	1584748	1584748	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chrX:1584748G>C	ENST00000381297.4	-	2	914	c.704C>G	c.(703-705)gCg>gGg	p.A235G	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGCCCACCGCGCGCCTCCG	0.662			T	CRLF2	"B-ALL, Downs associated ALL"																																		Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	0													45	38	40					X																	1584748		2201	4294	6495	SO:0001583	missense	286530			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.704C>G	chrX.hg19:g.1584748G>C	ENSP00000370697:p.Ala235Gly			Missense_Mutation	SNP	ENST00000381297.4	hg19	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	14.43	2.532899	0.45073	.	.	ENSG00000182162	ENST00000381297	T	0.40756	1.02	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.338053	0.26738	U	0.022749	T	0.56124	0.1964	M	0.85630	2.765	0.09310	N	1	P	0.52170	0.951	P	0.50537	0.643	T	0.56111	-0.8033	10	0.56958	D	0.05	.	13.5149	0.61535	0.0:0.0:1.0:0.0	.	235	Q86VZ1	P2RY8_HUMAN	G	235	ENSP00000370697:A235G	ENSP00000370697:A235G	A	-	2	0	P2RY8	1544748	1.000000	0.71417	0.236000	0.24074	0.670000	0.39368	5.742000	0.68646	1.007000	0.39238	0.279000	0.19357	GCG		0.662	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		C	1584748	G	C	1584748	3	2	2	1	0	0	0	0	1	0	0	0	11357	1087	38	4	379	4	P2RY8	23	1584748	Missense_Mutation	SNP	G	TCGA-2Z-A9J1-01A-11D-A382-10		1584748	153685812	103	164											
XKRX	402415	hgsc.bcm.edu	37	X	100183149	100183149	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chrX:100183149C>T	ENST00000372956.2	-	1	749	c.145G>A	c.(145-147)Gca>Aca	p.A49T	XKRX_ENST00000328526.5_Missense_Mutation_p.A62T|XKRX_ENST00000468904.1_Missense_Mutation_p.A49T			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AAAGCAGATGCAGCCTCCCCA	0.413																																																0													135	127	130					X																	100183149		2203	4300	6503	SO:0001583	missense	402415			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.145G>A	chrX.hg19:g.100183149C>T	ENSP00000362047:p.Ala49Thr		B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	hg19	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009363	0.35415	.	.	ENSG00000182489	ENST00000328526;ENST00000372956;ENST00000468904	T;T;T	0.64085	-0.08;-0.08;-0.08	5.17	2.09	0.27110	.	0.428985	0.25369	N	0.031170	T	0.42630	0.1211	L	0.28115	0.83	0.34225	D	0.675849	B	0.25441	0.126	B	0.28916	0.096	T	0.41179	-0.9523	10	0.15066	T	0.55	-0.4089	6.8026	0.23760	0.2543:0.6499:0.0:0.0958	.	49	Q6PP77	XKR2_HUMAN	T	62;49;49	ENSP00000327570:A62T;ENSP00000362047:A49T;ENSP00000419884:A49T	ENSP00000327570:A62T	A	-	1	0	XKRX	100069805	0.589000	0.26807	0.995000	0.50966	0.958000	0.62258	0.851000	0.27751	0.963000	0.38082	0.429000	0.28392	GCA		0.413	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		T	100183149	C	T	100183149	3	4	2	1	0	0	0	0	1	0	0	0	17444	710	25	2	1216	2	XKRX	23	100183149	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	98598401	100183149	55087411	104	165											
ATP2B3	492	hgsc.bcm.edu	37	X	152826188	152826188	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J1-01A-11D-A382-10	TCGA-2Z-A9J1-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	facc4ec7-af1e-4980-ae56-1f0cd0c7ae54	a57e8ad5-ef7e-47cc-8cc1-0bee5ece05fa	g.chrX:152826188C>A	ENST00000349466.2	+	18	3220	c.2894C>A	c.(2893-2895)cCc>cAc	p.P965H	ATP2B3_ENST00000393842.1_Missense_Mutation_p.P951H|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P965H|ATP2B3_ENST00000263519.4_Missense_Mutation_p.P965H|ATP2B3_ENST00000370186.1_Missense_Mutation_p.P951H|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Missense_Mutation_p.P951H			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	965					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTCGCCACCCTCAGAGCAC	0.562																																																0													230	170	190					X																	152826188		2203	4300	6503	SO:0001583	missense	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2894C>A	chrX.hg19:g.152826188C>A	ENSP00000343886:p.Pro965His		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	hg19	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587407	0.66105	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77;-3.77	4.99	4.99	0.66335	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97711	0.9249	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.85130	0.997;0.889	D	0.98698	1.0699	10	0.87932	D	0	-26.3635	16.126	0.81395	0.0:1.0:0.0:0.0	.	965;965	Q16720;Q16720-2	AT2B3_HUMAN;.	H	951;965;951;965;965;951	ENSP00000359205:P951H;ENSP00000343886:P965H;ENSP00000377425:P951H;ENSP00000352062:P965H;ENSP00000263519:P965H;ENSP00000359200:P951H	ENSP00000263519:P965H	P	+	2	0	ATP2B3	152479382	1.000000	0.71417	0.082000	0.20525	0.421000	0.31385	7.728000	0.84847	2.057000	0.61298	0.519000	0.50382	CCC		0.562	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		A	152826188	C	A	152826188	3	1	2	1	0	0	0	0	1	0	0	0	1141	623	22	4	2960	4	ATP2B3	23	152826188	Missense_Mutation	SNP	C	TCGA-2Z-A9J1-01A-11D-A382-10	52643039	152826188	2444372	105	166											
AGRN	375790	hgsc.bcm.edu	37	1	984390	984390	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:984390G>T	ENST00000379370.2	+	24	4299	c.4249G>T	c.(4249-4251)Ggc>Tgc	p.G1417C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1417	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAACGCCCGGGGCAAGGACTT	0.711																																																0													7	8	8					1																	984390		2166	4270	6436	SO:0001583	missense	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4249G>T	chr1.hg19:g.984390G>T	ENSP00000368678:p.Gly1417Cys		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	hg19	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	g	14.88	2.666084	0.47677	.	.	ENSG00000188157	ENST00000379370	T	0.76448	-1.02	4.62	4.62	0.57501	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.177734	0.37178	U	0.002213	D	0.90212	0.6940	M	0.91612	3.225	0.49130	D	0.999757	D	0.89917	1.0	D	0.79784	0.993	D	0.92456	0.5974	10	0.66056	D	0.02	-30.8549	16.6039	0.84823	0.0:0.0:1.0:0.0	.	1417	O00468	AGRIN_HUMAN	C	1417	ENSP00000368678:G1417C	ENSP00000368678:G1417C	G	+	1	0	AGRN	974253	1.000000	0.71417	0.932000	0.37286	0.031000	0.12232	5.858000	0.69532	2.284000	0.76573	0.555000	0.69702	GGC		0.711	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		T	984390	G	T	984390	3	4	3	1	0	0	0	0	1	0	0	0	397	1232	43	4	4343	4	AGRN	1	984390	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10		984390	248266231	1	167											
KIF1B	23095	hgsc.bcm.edu	37	1	10394605	10394605	+	Silent	SNP	G	G	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:10394605G>A	ENST00000377086.1	+	28	3154	c.2952G>A	c.(2950-2952)ctG>ctA	p.L984L	KIF1B_ENST00000263934.6_Silent_p.L938L|KIF1B_ENST00000377081.1_Silent_p.L984L			O60333	KIF1B_HUMAN	kinesin family member 1B	984					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCAATCTGCTGTATCCCGTGC	0.507																																																0													292	261	271					1																	10394605		2203	4300	6503	SO:0001819	synonymous_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2952G>A	chr1.hg19:g.10394605G>A			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	hg19																																																																																					0.507	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			A	10394605	G	A	10394605	2	1	3	1	0	0	0	0	0	0	0	1	8286	1364	48	2		2	KIF1B	1	10394605	Silent	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	9410215	10394605	238856016	2	168											
PEX14	5195	hgsc.bcm.edu	37	1	10596271	10596271	+	Splice_Site	SNP	T	T	G			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:10596271T>G	ENST00000356607.4	+	3	166	c.86T>G	c.(85-87)aTt>aGt	p.I29S	PEX14_ENST00000538836.1_Intron|PEX14_ENST00000492696.1_3'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	29					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TCTCACCAGATTGCCACGGCA	0.458																																																0													54	55	55					1																	10596271		2203	4300	6503	SO:0001630	splice_region_variant	5195			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.85-1T>G	chr1.hg19:g.10596271T>G			B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	hg19	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524443	0.85600	.	.	ENSG00000142655	ENST00000356607	T	0.52526	0.66	5.82	5.82	0.92795	Peroxisome membrane anchor protein Pex14p, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	M	0.89214	3.015	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72338	0.943;0.977	T	0.79619	-0.1728	10	0.87932	D	0	.	16.1986	0.82053	0.0:0.0:0.0:1.0	.	29;29	O75381-2;O75381	.;PEX14_HUMAN	S	29	ENSP00000349016:I29S	ENSP00000349016:I29S	I	+	2	0	PEX14	10518858	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.082000	0.76851	2.227000	0.72691	0.455000	0.32223	ATT		0.458	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1		Missense_Mutation	G	10596271	T	G	10596271	5	3	3	1	0	0	0	0	0	0	1	0	11744	1507	52	5	96	5	PEX14	1	10596271	Splice_Site	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	201666	10596271	238654350	3	169											
ARHGEF19	128272	hgsc.bcm.edu	37	1	16529006	16529007	+	Frame_Shift_Ins	INS	-	-	CTCAGGTCCCGCACCTGCAGCTCAGCCAT			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:16529006_16529007insCTCAGGTCCCGCACCTGCAGCTCAGCCAT	ENST00000270747.3	-	13	2106_2107	c.1970_1971insATGGCTGAGCTGCAGGTGCGGGACCTGAG	c.(1969-1971)agcfs	p.S657fs	ARHGEF19_ENST00000478117.1_De_novo_Start_OutOfFrame	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	657	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCTTCAGGCTCAGGTCCCG	0.663																																																0																																										SO:0001589	frameshift_variant	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1942_1970dupATGGCTGAGCTGCAGGTGCGGGACCTGAG	chr1.hg19:g.16529006_16529007insCTCAGGTCCCGCACCTGCAGCTCAGCCAT	ENSP00000270747:p.Ser657fs		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Frame_Shift_Ins	INS	ENST00000270747.3	hg19	CCDS170.1																																																																																				0.663	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		CTCAGGTCCCGCACCTGCAGCTCAGCCAT	16529007	-	CTCAGGTCCCGCACCTGCAGCTCAGCCAT	16529006	7	5	3	1	0	1	1	0	0	0	0	0	902	1194	42	0	453	0	ARHGEF19	1	16529006	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J2-01A-11D-A382-10	5932735	16529006	232721615	4	170											
GJA4	2701	hgsc.bcm.edu	37	1	35260710	35260710	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:35260710G>C	ENST00000342280.4	+	2	984	c.896G>C	c.(895-897)aGg>aCg	p.R299T		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	299					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACAGAGGAGAGGCTGGCGTCT	0.612																																																0													50	46	48					1																	35260710		2203	4300	6503	SO:0001583	missense	2701			M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.896G>C	chr1.hg19:g.35260710G>C	ENSP00000343676:p.Arg299Thr		A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	hg19	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	G	6.072	0.381657	0.11524	.	.	ENSG00000187513	ENST00000342280	T	0.81247	-1.47	5.25	5.25	0.73442	.	0.525534	0.20845	N	0.084627	T	0.67961	0.2949	L	0.36672	1.1	0.28591	N	0.90966	B	0.02656	0.0	B	0.01281	0.0	T	0.53961	-0.8364	10	0.17832	T	0.49	.	7.1313	0.25502	0.1489:0.1466:0.7045:0.0	.	299	P35212	CXA4_HUMAN	T	299	ENSP00000343676:R299T	ENSP00000343676:R299T	R	+	2	0	GJA4	35033297	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.161000	0.42358	2.438000	0.82558	0.561000	0.74099	AGG		0.612	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		C	35260710	G	C	35260710	3	2	3	1	0	0	0	0	1	0	0	0	6405	1000	35	4	898	4	GJA4	1	35260710	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	18731704	35260710	213989911	5	171											
SLFNL1	200172	hgsc.bcm.edu	37	1	41486067	41486067	+	Missense_Mutation	SNP	G	G	T	rs189387361		TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:41486067G>T	ENST00000359345.1	-	1	2842	c.266C>A	c.(265-267)cCg>cAg	p.P89Q	SLFNL1_ENST00000439569.2_Missense_Mutation_p.P89Q|SLFNL1_ENST00000372611.1_Missense_Mutation_p.P89Q|SLFNL1_ENST00000302946.8_Missense_Mutation_p.P89Q|SLFNL1_ENST00000397197.2_Missense_Mutation_p.P89Q|SLFNL1_ENST00000372613.2_Missense_Mutation_p.P89Q	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	89							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GGCCTTCCGCGGCCGCCTCAC	0.677																																																0													50	55	53					1																	41486067		2203	4299	6502	SO:0001583	missense	200172			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.266C>A	chr1.hg19:g.41486067G>T	ENSP00000352299:p.Pro89Gln		A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	hg19	CCDS460.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551154	0.65311	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	5.8	4.81	0.61882	.	0.328529	0.26390	N	0.024655	T	0.69070	0.3070	L	0.55481	1.735	0.24286	N	0.995182	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.70487	0.969;0.923;0.953	T	0.60480	-0.7255	10	0.49607	T	0.09	-30.5925	12.8379	0.57784	0.0:0.0:0.8264:0.1736	.	89;89;89	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	Q	89	ENSP00000304401:P89Q;ENSP00000361696:P89Q;ENSP00000361694:P89Q;ENSP00000352299:P89Q;ENSP00000398938:P89Q;ENSP00000380381:P89Q	ENSP00000304401:P89Q	P	-	2	0	SLFNL1	41258654	0.916000	0.31088	0.960000	0.40013	0.865000	0.49528	2.555000	0.45854	2.739000	0.93911	0.561000	0.74099	CCG		0.677	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		T	41486067	G	T	41486067	3	4	3	1	0	0	0	0	1	0	0	0	14744	1116	39	4	973	4	SLFNL1	1	41486067	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	6225357	41486067	207764554	6	172											
KIAA0467	23334	hgsc.bcm.edu	37	1	43896443	43896443	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:43896443G>C	ENST00000562955.1	+	31	4586	c.4586G>C	c.(4585-4587)aGc>aCc	p.S1529T	SZT2_ENST00000372442.1_Missense_Mutation_p.S687T	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1586					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGTGTGCAGCCTGCCTACC	0.617																																																0													80	84	83					1																	43896443		2203	4299	6502	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4586G>C	chr1.hg19:g.43896443G>C	ENSP00000457168:p.Ser1529Thr		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	hg19	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	8.339	0.828333	0.16749	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.79	4.86	0.63082	.	0.161368	0.56097	D	0.000037	T	0.19765	0.0475	N	0.04880	-0.145	0.25888	N	0.983513	B	0.15473	0.013	B	0.14023	0.01	T	0.08576	-1.0715	9	0.06365	T	0.9	.	13.1417	0.59438	0.0:0.3852:0.6148:0.0	.	1529	Q5T011-5	.	T	687	.	ENSP00000361519:S687T	S	+	2	0	SZT2	43669030	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.200000	0.65158	2.733000	0.93635	0.655000	0.94253	AGC		0.617	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		C	43896443	G	C	43896443	3	2	3	1	0	0	0	0	1	0	0	0	8180	971	34	4	2118	4	KIAA0467	1	43896443	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	2410376	43896443	205354178	7	173											
ZCCHC11	23318	hgsc.bcm.edu	37	1	52941009	52941009	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:52941009A>C	ENST00000371544.3	-	13	2484	c.2222T>G	c.(2221-2223)aTg>aGg	p.M741R	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.M741R	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	741					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATTGGTTGCCATATTGTTCGA	0.408																																																0													171	170	170					1																	52941009		2203	4300	6503	SO:0001583	missense	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2222T>G	chr1.hg19:g.52941009A>C	ENSP00000360599:p.Met741Arg		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	hg19	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.888457	0.00527	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.39997	1.05;1.05;1.06;1.06	5.49	0.239	0.15484	.	1.086240	0.06799	N	0.788393	T	0.20414	0.0491	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.12837	0.005;0.008	T	0.22034	-1.0228	10	0.15066	T	0.55	.	1.1744	0.01832	0.2833:0.2912:0.2819:0.1435	.	500;741	E9PKX1;Q5TAX3	.;TUT4_HUMAN	R	741;741;670;500	ENSP00000257177:M741R;ENSP00000360599:M741R;ENSP00000433486:M670R;ENSP00000435256:M500R	ENSP00000257177:M741R	M	-	2	0	ZCCHC11	52713597	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.599000	0.24089	0.061000	0.16311	0.455000	0.32223	ATG		0.408	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		C	52941009	A	C	52941009	3	2	3	1	0	0	0	0	1	0	0	0	17585	217	8	5	2787	5	ZCCHC11	1	52941009	Missense_Mutation	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	9044566	52941009	196309612	8	174											
ARHGAP29	9411	hgsc.bcm.edu	37	1	94650461	94650461	+	Silent	SNP	G	G	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:94650461G>T	ENST00000260526.6	-	18	2258	c.2076C>A	c.(2074-2076)gcC>gcA	p.A692A	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	692	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CAATCTCTGAGGCACATATTT	0.328																																																0													74	76	75					1																	94650461		2201	4299	6500	SO:0001819	synonymous_variant	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2076C>A	chr1.hg19:g.94650461G>T			O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	hg19	CCDS748.1																																																																																				0.328	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		T	94650461	G	T	94650461	2	4	3	1	0	0	0	0	0	0	0	1	878	987	35	4		4	ARHGAP29	1	94650461	Silent	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	41709452	94650461	154600160	9	175											
SASS6	163786	hgsc.bcm.edu	37	1	100573433	100573433	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:100573433T>A	ENST00000287482.5	-	9	1129	c.989A>T	c.(988-990)gAa>gTa	p.E330V	SASS6_ENST00000535161.1_Missense_Mutation_p.E163V|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	330					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATCCTTGATTTCCTGTTCTAA	0.353																																																0													109	108	108					1																	100573433		2203	4300	6503	SO:0001583	missense	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.989A>T	chr1.hg19:g.100573433T>A	ENSP00000287482:p.Glu330Val		D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	hg19	CCDS764.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.649344	0.87958	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.81163	-1.46;-1.46	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89635	0.3858	10	0.72032	D	0.01	-25.3753	16.2466	0.82448	0.0:0.0:0.0:1.0	.	330	Q6UVJ0	SAS6_HUMAN	V	330;303;163	ENSP00000287482:E330V;ENSP00000440169:E163V	ENSP00000287482:E330V	E	-	2	0	SASS6	100346021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.495000	0.81514	2.229000	0.72834	0.477000	0.44152	GAA		0.353	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		A	100573433	T	A	100573433	3	1	3	1	0	0	0	0	1	0	0	0	13856	1783	62	5	1020	5	SASS6	1	100573433	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	5922972	100573433	148677188	10	176											
IGSF9	57549	hgsc.bcm.edu	37	1	159912854	159912854	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:159912854C>T	ENST00000368094.1	-	3	343	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	IGSF9_ENST00000361509.3_Missense_Mutation_p.R49Q	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	49	Ig-like 1.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAgggggggccggccggccgg	0.637																																																0													23	29	27					1																	159912854		2203	4300	6503	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.146G>A	chr1.hg19:g.159912854C>T	ENSP00000357073:p.Arg49Gln			Missense_Mutation	SNP	ENST00000368094.1	hg19	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579962	0.28180	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.27557	1.66;1.66	4.84	1.88	0.25563	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.204861	0.23402	N	0.048567	T	0.03608	0.0103	N	0.04508	-0.205	0.24333	N	0.994993	B;B	0.27853	0.007;0.191	B;B	0.20955	0.001;0.032	T	0.44360	-0.9333	9	.	.	.	-6.5247	8.9188	0.35599	0.0:0.7473:0.0:0.2527	.	49;49	Q9P2J2;C9JI81	TUTLA_HUMAN;.	Q	49	ENSP00000355049:R49Q;ENSP00000357073:R49Q	.	R	-	2	0	IGSF9	158179478	0.003000	0.15002	0.965000	0.40720	0.867000	0.49689	0.098000	0.15189	0.179000	0.19938	0.557000	0.71058	CGG		0.637	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		T	159912854	C	T	159912854	3	4	3	1	0	0	0	0	1	0	0	0	7607	652	23	1	3469	1	IGSF9	1	159912854	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	59339421	159912854	89337767	11	177											
SLC9A11	284525	hgsc.bcm.edu	37	1	173503688	173503688	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:173503688C>T	ENST00000367714.3	-	16	2331	c.1909G>A	c.(1909-1911)Gta>Ata	p.V637I	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	637					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AGTGCTGATACATTTAAACCT	0.249																																																0													37	44	42					1																	173503688		2162	4205	6367	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1909G>A	chr1.hg19:g.173503688C>T	ENSP00000356687:p.Val637Ile		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	hg19	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	5.777	0.327746	0.10956	.	.	ENSG00000162753	ENST00000367714	D	0.97328	-4.34	5.76	5.76	0.90799	.	0.407412	0.20491	N	0.091286	D	0.95341	0.8488	L	0.57536	1.79	0.80722	D	1	D	0.56968	0.978	P	0.48738	0.588	D	0.93530	0.6869	10	0.22706	T	0.39	-2.8591	15.4679	0.75416	0.0:1.0:0.0:0.0	.	637	Q5TAH2	S9A11_HUMAN	I	637	ENSP00000356687:V637I	ENSP00000356687:V637I	V	-	1	0	SLC9A11	171770311	0.824000	0.29247	0.416000	0.26546	0.130000	0.20726	1.138000	0.31491	2.721000	0.93114	0.609000	0.83330	GTA		0.249	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		T	173503688	C	T	173503688	3	4	3	1	0	0	0	0	1	0	0	0	14717	478	17	2	1517	2	SLC9A11	1	173503688	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	13590834	173503688	75746933	12	178											
KIAA1614	57710	hgsc.bcm.edu	37	1	180882414	180882414	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:180882414C>T	ENST00000367588.4	+	1	90	c.35C>T	c.(34-36)gCg>gTg	p.A12V		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	12										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCAAACCCGCGGGCGGCAGC	0.776																																																0													2	2	2					1																	180882414		932	2251	3183	SO:0001583	missense	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.35C>T	chr1.hg19:g.180882414C>T	ENSP00000356560:p.Ala12Val		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	hg19	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440830	0.83993	.	.	ENSG00000135835	ENST00000367588	T	0.18174	2.23	3.93	2.91	0.33838	.	.	.	.	.	T	0.23688	0.0573	L	0.27053	0.805	0.20638	N	0.999872	D	0.89917	1.0	D	0.71870	0.975	T	0.08953	-1.0697	9	0.30078	T	0.28	-12.4368	8.5894	0.33677	0.0:0.6809:0.3191:0.0	.	12	Q5VZ46	K1614_HUMAN	V	12	ENSP00000356560:A12V	ENSP00000356560:A12V	A	+	2	0	KIAA1614	179149037	0.003000	0.15002	0.646000	0.29493	0.784000	0.44337	0.640000	0.24705	1.924000	0.55735	0.555000	0.69702	GCG		0.776	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		T	180882414	C	T	180882414	3	4	3	1	0	0	0	0	1	0	0	0	8250	768	27	1	37	1	KIAA1614	1	180882414	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	7378726	180882414	68368207	13	179											
NFASC	23114	hgsc.bcm.edu	37	1	204955212	204955212	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:204955212G>A	ENST00000404076.1	+	21	3120	c.2698G>A	c.(2698-2700)Gag>Aag	p.E900K	NFASC_ENST00000367171.4_Missense_Mutation_p.E906K|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338586.6_Missense_Mutation_p.E921K|NFASC_ENST00000539706.1_Missense_Mutation_p.E917K|NFASC_ENST00000404907.1_Missense_Mutation_p.E917K|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.E921K|NFASC_ENST00000360049.4_Missense_Mutation_p.E917K|NFASC_ENST00000367172.4_Missense_Mutation_p.E921K|NFASC_ENST00000513543.1_Missense_Mutation_p.E917K|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.E921K			O94856	NFASC_HUMAN	neurofascin	921	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCTCGCAGTGAGACCAAGGA	0.612																																																0													75	65	68					1																	204955212		2203	4300	6503	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000404076.1:c.2698G>A	chr1.hg19:g.204955212G>A	ENSP00000385676:p.Glu900Lys		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000404076.1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.96	2.393311	0.42410	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000404076;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.66	5.66	0.87406	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000079	T	0.54175	0.1842	L	0.54965	1.715	0.80722	D	1	B;B;B;P;B	0.38078	0.146;0.106;0.248;0.617;0.125	B;B;B;B;B	0.41412	0.053;0.089;0.115;0.356;0.115	T	0.46317	-0.9200	10	0.19590	T	0.45	.	19.3505	0.94381	0.0:0.0:1.0:0.0	.	921;932;917;906;917	O94856;O94856-11;O94856-8;F8W791;O94856-3	NFASC_HUMAN;.;.;.;.	K	921;906;921;921;921;932;917;917;900;917;917;908	ENSP00000356140:E921K;ENSP00000356139:E906K;ENSP00000356138:E921K;ENSP00000342128:E921K;ENSP00000343509:E921K;ENSP00000438614:E917K;ENSP00000353154:E917K;ENSP00000385676:E900K;ENSP00000384061:E917K;ENSP00000425908:E917K;ENSP00000415031:E908K	ENSP00000295776:E932K	E	+	1	0	NFASC	203221835	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.613000	0.82986	2.665000	0.90641	0.563000	0.77884	GAG		0.612	NFASC-012	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000131243.1	NM_001005388		A	204955212	G	A	204955212	3	1	3	1	0	0	0	0	1	0	0	0	10361	1291	45	2	2927	2	NFASC	1	204955212	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	24072798	204955212	44295409	14	180											
ARID4B	51742	hgsc.bcm.edu	37	1	235416071	235416072	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr1:235416071_235416072insT	ENST00000264183.3	-	6	824_825	c.327_328insA	c.(325-330)aaaggafs	p.G110fs	ARID4B_ENST00000349213.3_Frame_Shift_Ins_p.G110fs|ARID4B_ENST00000366603.2_Frame_Shift_Ins_p.G110fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	110					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TGCCTCTCTCCTTTCAGGCACA	0.356																																																0																																										SO:0001589	frameshift_variant	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.328dupA	chr1.hg19:g.235416074_235416074dupT	ENSP00000264183:p.Gly110fs		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Ins	INS	ENST00000264183.3	hg19	CCDS31061.1																																																																																				0.356	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		T	235416072	-	T	235416071	7	5	3	1	0	1	1	0	0	0	0	0	920	690	24	0	3686	0	ARID4B	1	235416071	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J2-01A-11D-A382-10	30460859	235416071	13834550	15	181											
LCLAT1	253558	hgsc.bcm.edu	37	2	30863435	30863435	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr2:30863435T>A	ENST00000309052.4	+	7	1404	c.1195T>A	c.(1195-1197)Tac>Aac	p.Y399N	LCLAT1_ENST00000379509.3_Missense_Mutation_p.Y361N|LCLAT1_ENST00000540623.1_Missense_Mutation_p.Y361N|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	399					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ACTTGCATGTTACCGACTTTT	0.333																																																0													94	94	94					2																	30863435		2203	4300	6503	SO:0001583	missense	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.1195T>A	chr2.hg19:g.30863435T>A	ENSP00000310551:p.Tyr399Asn		A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	hg19	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965768	0.34659	.	.	ENSG00000172954	ENST00000379509;ENST00000309052;ENST00000540623	T;T;T	0.34275	1.46;1.37;1.46	6.03	4.89	0.63831	.	0.047907	0.85682	D	0.000000	T	0.26666	0.0652	L	0.27053	0.805	0.44221	D	0.997051	P	0.50272	0.933	B	0.44108	0.441	T	0.06075	-1.0847	10	0.72032	D	0.01	-20.2528	6.5263	0.22303	0.0:0.2756:0.0:0.7244	.	399	Q6UWP7	LCLT1_HUMAN	N	361;399;361	ENSP00000368823:Y361N;ENSP00000310551:Y399N;ENSP00000442857:Y361N	ENSP00000310551:Y399N	Y	+	1	0	LCLAT1	30716939	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	4.148000	0.58085	1.114000	0.41781	-0.379000	0.06801	TAC		0.333	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		A	30863435	T	A	30863435	3	1	3	1	0	0	0	0	1	0	0	0	8679	1754	61	5	1217	5	LCLAT1	2	30863435	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10		30863435	212335938	16	182											
TMEM17	200728	hgsc.bcm.edu	37	2	62729639	62729639	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr2:62729639A>G	ENST00000335390.5	-	3	462	c.251T>C	c.(250-252)aTc>aCc	p.I84T		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	84					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			TATTAGGATGATAACAGTGAT	0.353																																																0													102	100	100					2																	62729639		2203	4300	6503	SO:0001583	missense	200728				CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.251T>C	chr2.hg19:g.62729639A>G	ENSP00000335094:p.Ile84Thr		Q53QP7|Q53R98	Missense_Mutation	SNP	ENST00000335390.5	hg19	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822568	0.50739	.	.	ENSG00000186889	ENST00000335390	D	0.88431	-2.38	5.96	5.96	0.96718	.	0.341351	0.33631	N	0.004712	T	0.80358	0.4608	N	0.19112	0.55	0.31954	N	0.609326	P	0.35226	0.491	B	0.31946	0.138	D	0.83619	0.0138	10	0.51188	T	0.08	-14.8168	11.4636	0.50225	0.9304:0.0:0.0696:0.0	.	84	Q86X19	TMM17_HUMAN	T	84	ENSP00000335094:I84T	ENSP00000335094:I84T	I	-	2	0	TMEM17	62583143	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.869000	0.69613	2.279000	0.76181	0.533000	0.62120	ATC		0.353	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276		G	62729639	A	G	62729639	3	3	3	1	0	0	0	0	1	0	0	0	16090	333	12	3	353	3	TMEM17	2	62729639	Missense_Mutation	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	31866204	62729639	180469734	17	183											
KDM3A	55818	hgsc.bcm.edu	37	2	86669203	86669203	+	Silent	SNP	A	A	G			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr2:86669203A>G	ENST00000409556.1	+	3	398	c.33A>G	c.(31-33)gtA>gtG	p.V11V	KDM3A_ENST00000542128.1_Silent_p.V11V|KDM3A_ENST00000409064.1_Silent_p.V11V|KDM3A_ENST00000312912.5_Silent_p.V11V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	11					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTTGGCCGGTATTGGTGGGGA	0.627																																					NSCLC(96;1150 1523 6936 46253 49736)											0													96	97	97					2																	86669203		2203	4300	6503	SO:0001819	synonymous_variant	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.33A>G	chr2.hg19:g.86669203A>G			D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	hg19	CCDS1990.1																																																																																				0.627	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		G	86669203	A	G	86669203	2	3	3	1	0	0	0	0	0	0	0	1	8128	436	16	3		3	KDM3A	2	86669203	Silent	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	23939564	86669203	156530170	18	184											
CNTNAP5	129684	hgsc.bcm.edu	37	2	125405359	125405359	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr2:125405359A>T	ENST00000431078.1	+	13	2262	c.1898A>T	c.(1897-1899)cAg>cTg	p.Q633L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	633	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACATCAGTGCAGCACAACAAT	0.542																																																0													41	42	42					2																	125405359		2106	4236	6342	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1898A>T	chr2.hg19:g.125405359A>T	ENSP00000399013:p.Gln633Leu		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.138971	0.37728	.	.	ENSG00000155052	ENST00000431078	T	0.28895	1.59	5.5	5.5	0.81552	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.48286	D	0.000181	T	0.28995	0.0720	L	0.56124	1.755	0.43183	D	0.995009	B	0.28713	0.22	B	0.26416	0.069	T	0.07139	-1.0788	10	0.42905	T	0.14	.	10.8862	0.46968	0.8426:0.1573:0.0:0.0	.	633	Q8WYK1	CNTP5_HUMAN	L	633	ENSP00000399013:Q633L	ENSP00000399013:Q633L	Q	+	2	0	CNTNAP5	125121829	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	2.831000	0.48144	2.093000	0.63338	0.459000	0.35465	CAG		0.542	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125405359	A	T	125405359	3	4	3	1	0	0	0	0	1	0	0	0	3652	188	7	5	1948	5	CNTNAP5	2	125405359	Missense_Mutation	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	38736156	125405359	117794014	19	185											
YSK4	80122	hgsc.bcm.edu	37	2	135738784	135738784	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr2:135738784T>C	ENST00000375845.3	-	9	3557	c.3527A>G	c.(3526-3528)tAt>tGt	p.Y1176C	MAP3K19_ENST00000392917.3_Missense_Mutation_p.Y308C|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Y1063C|MAP3K19_ENST00000375844.3_Missense_Mutation_p.Y358C|MAP3K19_ENST00000315513.3_Missense_Mutation_p.Y37C|MAP3K19_ENST00000392918.3_Missense_Mutation_p.Y310C|MAP3K19_ENST00000392915.1_3'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CTCATGGAGATAAGCAACACC	0.408																																																0													146	143	144					2																	135738784		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3527A>G	chr2.hg19:g.135738784T>C	ENSP00000365005:p.Tyr1176Cys		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	hg19	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984760	0.74474	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42053	D	0.000766	D	0.88592	0.6478	M	0.90595	3.13	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.968;1.0;1.0;1.0	D	0.90863	0.4740	10	0.87932	D	0	.	15.2483	0.73523	0.0:0.0:0.0:1.0	.	308;1063;310;358;1176	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	C	1176;1063;358;310;308;566;37	ENSP00000365005:Y1176C;ENSP00000351140:Y1063C;ENSP00000365004:Y358C;ENSP00000376650:Y310C;ENSP00000376649:Y308C;ENSP00000392827:Y566C;ENSP00000321160:Y37C	ENSP00000321160:Y37C	Y	-	2	0	YSK4	135455254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.921000	0.63397	2.192000	0.70111	0.460000	0.39030	TAT		0.408	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		C	135738784	T	C	135738784	3	2	3	1	0	0	0	0	1	0	0	0	17500	1406	49	3	467	3	YSK4	2	135738784	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	10333425	135738784	107460589	20	186											
TTN	7273	hgsc.bcm.edu	37	2	179396967	179396967	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr2:179396967A>C	ENST00000591111.1	-	308	99676	c.99452T>G	c.(99451-99453)tTc>tGc	p.F33151C	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F25919C|TTN_ENST00000342992.6_Missense_Mutation_p.F32224C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F25852C|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F25727C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F34792C			Q8WZ42	TITIN_HUMAN	titin	33151					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)			CTTTGACATGAAGTCAAGTTC	0.423																																																0													151	137	142					2																	179396967		1938	4141	6079	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99452T>G	chr2.hg19:g.179396967A>C	ENSP00000465570:p.Phe33151Cys		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	A	9.296	1.051828	0.19827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;0.12;0.1;0.09	5.55	4.39	0.52855	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.42944	0.1225	N	0.08118	0	0.25146	N	0.990465	B;B;B;B	0.20368	0.044;0.044;0.044;0.044	B;B;B;B	0.09377	0.002;0.002;0.004;0.004	T	0.39563	-0.9608	9	0.87932	D	0	.	11.6729	0.51413	0.1339:0.0:0.0:0.8661	.	25727;25852;25919;33151	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	32224;25727;25919;25852;25724	ENSP00000343764:F32224C;ENSP00000434586:F25727C;ENSP00000340554:F25919C;ENSP00000352154:F25852C	ENSP00000340554:F25919C	F	-	2	0	TTN	179105213	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	1.227000	0.32576	0.935000	0.37341	-0.282000	0.10007	TTC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179396967	A	C	179396967	3	2	3	1	0	0	0	0	1	0	0	0	16740	246	9	5	3624	5	TTN	2	179396967	Missense_Mutation	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	43658183	179396967	63802406	21	187											
XRCC5	7520	hgsc.bcm.edu	37	2	216982471	216982471	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr2:216982471C>A	ENST00000392133.3	+	6	783	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	XRCC5_ENST00000392132.2_Missense_Mutation_p.L108M			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	108					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TAGCTGAGTCCTGGATGCACT	0.418								Non-homologous end-joining																																								0													158	133	141					2																	216982471		2203	4300	6503	SO:0001583	missense	7520			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.322C>A	chr2.hg19:g.216982471C>A	ENSP00000375978:p.Leu108Met		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	hg19	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948208	0.73787	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.35789	1.29;1.29	5.74	3.87	0.44632	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.154656	0.44097	D	0.000500	T	0.44244	0.1284	M	0.65975	2.015	0.54753	D	0.999988	P	0.45396	0.857	P	0.50791	0.65	T	0.32428	-0.9907	10	0.38643	T	0.18	.	8.8825	0.35382	0.0:0.7152:0.1506:0.1342	.	108	P13010	XRCC5_HUMAN	M	108;108;95	ENSP00000375978:L108M;ENSP00000375977:L108M	ENSP00000375977:L108M	L	+	1	2	XRCC5	216690716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.453000	0.44970	1.319000	0.45190	0.650000	0.86243	CTG		0.418	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		A	216982471	C	A	216982471	3	1	3	1	0	0	0	0	1	0	0	0	17461	680	24	4	336	4	XRCC5	2	216982471	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	37585504	216982471	26216902	22	188											
SH3BP4	23677	hgsc.bcm.edu	37	2	235950616	235950616	+	Silent	SNP	A	A	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr2:235950616A>T	ENST00000409212.1	+	4	1710	c.1203A>T	c.(1201-1203)atA>atT	p.I401I	SH3BP4_ENST00000392011.2_Silent_p.I401I|SH3BP4_ENST00000344528.4_Silent_p.I401I			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	401					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCCGAGATAAAAAATGACC	0.532																																																0													43	45	44					2																	235950616		2203	4300	6503	SO:0001819	synonymous_variant	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1203A>T	chr2.hg19:g.235950616A>T			O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	hg19	CCDS2513.1																																																																																				0.532	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			T	235950616	A	T	235950616	2	4	3	1	0	0	0	0	0	0	0	1	14252	352	13	5		5	SH3BP4	2	235950616	Silent	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	18968145	235950616	7248757	23	189											
DLEC1	9940	hgsc.bcm.edu	37	3	38158502	38158502	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr3:38158502T>C	ENST00000308059.6	+	30	4237	c.4216T>C	c.(4216-4218)Tcc>Ccc	p.S1406P	DLEC1_ENST00000452631.2_Missense_Mutation_p.S1409P|DLEC1_ENST00000346219.3_Missense_Mutation_p.S1406P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATCTACATCTCCTTCACCCC	0.587																																																0													95	97	97					3																	38158502		2099	4231	6330	SO:0001583	missense	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4216T>C	chr3.hg19:g.38158502T>C	ENSP00000308597:p.Ser1406Pro			Missense_Mutation	SNP	ENST00000308059.6	hg19	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652603	0.47362	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.08458	3.12;3.09;3.35	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	T	0.27697	0.0681	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.98;0.998;0.98;0.98	T	0.02026	-1.1227	10	0.72032	D	0.01	-25.6014	12.5811	0.56391	0.0:0.0:0.0:1.0	.	1409;1406;1406;1406	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	P	1406;1406;1409	ENSP00000308597:S1406P;ENSP00000315914:S1406P;ENSP00000410427:S1409P	ENSP00000308597:S1406P	S	+	1	0	DLEC1	38133506	1.000000	0.71417	0.978000	0.43139	0.097000	0.18754	3.903000	0.56318	1.610000	0.50200	0.379000	0.24179	TCC		0.587	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		C	38158502	T	C	38158502	3	2	3	1	0	0	0	0	1	0	0	0	4554	1551	54	3	4334	3	DLEC1	3	38158502	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10		38158502	159863928	24	190											
BAP1	51533	hgsc.bcm.edu	37	3	52443600	52443600	+	5'Flank	SNP	T	T	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr3:52443600T>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.E31G|BAP1_ENST00000296288.5_Missense_Mutation_p.E31G	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E31A(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTCGTAGATCTCCTCCACTTG	0.617																																																1	Substitution - Missense(1)	kidney(1)											218	227	224					3																	52443600		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		chr3.hg19:g.52443600T>C	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	hg19	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	33	5.244578	0.95272	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61274	0.12;0.12	4.97	4.97	0.65823	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87513	0.2441	10	0.87932	D	0	-3.7767	14.6644	0.68896	0.0:0.0:0.0:1.0	.	31	Q92560	BAP1_HUMAN	G	31	ENSP00000417132:E31G;ENSP00000296288:E31G	ENSP00000296288:E31G	E	-	2	0	BAP1	52418640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.825000	0.86693	1.875000	0.54330	0.533000	0.62120	GAG		0.617	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		C	52443600	T	C	52443600	1	2	3	0	1	0	0	0	0	0	0	0	1311	1551	54	3		3	BAP1	3	52443600	5'Flank	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	14285098	52443600	145578830	25	191											
ITIH1	3697	hgsc.bcm.edu	37	3	52813055	52813055	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr3:52813055C>A	ENST00000273283.2	+	4	427	c.403C>A	c.(403-405)Ctt>Att	p.L135I	ITIH1_ENST00000540715.1_De_novo_Start_OutOfFrame|ITIH1_ENST00000537050.1_5'Flank|ITIH1_ENST00000542827.1_Missense_Mutation_p.L135I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	135	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAATGCCGGCCTTGTCAGGTG	0.547																																																0													113	94	100					3																	52813055		2203	4300	6503	SO:0001583	missense	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.403C>A	chr3.hg19:g.52813055C>A	ENSP00000273283:p.Leu135Ile		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	hg19	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512092	0.64522	.	.	ENSG00000055957	ENST00000542827;ENST00000273283	T;T	0.26373	1.74;1.74	5.05	3.2	0.36748	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.27571	-1.0070	10	0.48119	T	0.1	-15.2366	10.4182	0.44335	0.0:0.8434:0.0:0.1566	.	135	P19827	ITIH1_HUMAN	I	135	ENSP00000442584:L135I;ENSP00000273283:L135I	ENSP00000273283:L135I	L	+	1	0	ITIH1	52788095	0.901000	0.30685	0.994000	0.49952	0.897000	0.52465	0.730000	0.26043	1.345000	0.45676	0.561000	0.74099	CTT		0.547	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		A	52813055	C	A	52813055	3	1	3	1	0	0	0	0	1	0	0	0	7905	681	24	4	417	4	ITIH1	3	52813055	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	369455	52813055	145209375	26	192											
ERC2	26059	hgsc.bcm.edu	37	3	55768866	55768866	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr3:55768866T>C	ENST00000288221.6	-	15	2900	c.2645A>G	c.(2644-2646)aAg>aGg	p.K882R		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	882	Poly-Lys.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCCTGCGTCTTTTTCTTTTT	0.443																																																0													91	83	86					3																	55768866		1846	4120	5966	SO:0001583	missense	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2645A>G	chr3.hg19:g.55768866T>C	ENSP00000288221:p.Lys882Arg		Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	hg19	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.998014	0.93227	.	.	ENSG00000187672	ENST00000288221	T	0.47177	0.85	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	L	0.37750	1.13	0.46222	D	0.998937	D	0.57257	0.979	D	0.71414	0.973	T	0.52087	-0.8622	10	0.24483	T	0.36	-20.7165	15.6587	0.77165	0.0:0.0:0.0:1.0	.	882	O15083	ERC2_HUMAN	R	882	ENSP00000288221:K882R	ENSP00000288221:K882R	K	-	2	0	ERC2	55743906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.109000	0.64355	0.533000	0.62120	AAG		0.443	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		C	55768866	T	C	55768866	3	2	3	1	0	0	0	0	1	0	0	0	5213	1609	56	3	240	3	ERC2	3	55768866	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	2955811	55768866	142253564	27	193											
WDR52	55779	hgsc.bcm.edu	37	3	113125861	113125861	+	Silent	SNP	G	G	A	rs543988684		TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr3:113125861G>A	ENST00000295868.2	-	8	1080	c.918C>T	c.(916-918)acC>acT	p.T306T	WDR52_ENST00000393845.2_Silent_p.T306T|WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GCTTGAGACCGGTGAACGTAA	0.398													T|||	1	0.000199681	0.0	0.0	5008	,	,		16680	0.0		0.0	False		,,,				2504	0.001															0													140	127	131					3																	113125861		2203	4300	6503	SO:0001819	synonymous_variant	55779																														ENST00000295868.2:c.918C>T	chr3.hg19:g.113125861G>A				Silent	SNP	ENST00000295868.2	hg19	CCDS2972.1																																																																																				0.398	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			A	113125861	G	A	113125861	2	1	3	1	0	0	0	0	0	0	0	1	17309	1103	39	1		1	WDR52	3	113125861	Silent	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	57356995	113125861	84896569	28	194											
OTOL1	131149	hgsc.bcm.edu	37	3	161220933	161220933	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr3:161220933G>A	ENST00000327928.4	+	4	637	c.637G>A	c.(637-639)Gct>Act	p.A213T		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	213	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGACCAAGGGGCTATGGGCTC	0.557																																																0													5	6	6					3																	161220933		1825	3981	5806	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.637G>A	chr3.hg19:g.161220933G>A	ENSP00000330808:p.Ala213Thr			Missense_Mutation	SNP	ENST00000327928.4	hg19	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	6.893	0.534174	0.13188	.	.	ENSG00000182447	ENST00000327928	D	0.94232	-3.38	5.12	2.14	0.27477	.	0.710572	0.13922	N	0.353481	D	0.85911	0.5807	L	0.35542	1.07	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.69785	-0.5051	10	0.18276	T	0.48	.	4.7642	0.13123	0.0881:0.1479:0.611:0.153	.	213	A6NHN0	OTOL1_HUMAN	T	213	ENSP00000330808:A213T	ENSP00000330808:A213T	A	+	1	0	OTOL1	162703627	0.071000	0.21146	0.002000	0.10522	0.050000	0.14768	0.782000	0.26788	0.111000	0.17947	0.557000	0.71058	GCT		0.557	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		A	161220933	G	A	161220933	3	1	3	1	0	0	0	0	1	0	0	0	11306	1203	42	2	651	2	OTOL1	3	161220933	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	48095072	161220933	36801497	29	195											
BCL6	604	hgsc.bcm.edu	37	3	187446278	187446278	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr3:187446278C>A	ENST00000406870.2	-	6	1776	c.1410G>T	c.(1408-1410)atG>atT	p.M470I	BCL6_ENST00000232014.4_Missense_Mutation_p.M470I|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.M470I|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	470					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TCGGGGGGTGCATGTAGAGTG	0.632			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													65	58	60					3																	187446278		2203	4300	6503	SO:0001583	missense	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1410G>T	chr3.hg19:g.187446278C>A	ENSP00000384371:p.Met470Ile		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	hg19	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581183	0.28180	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07567	3.19;3.19;3.18	5.09	3.14	0.36123	.	0.499500	0.22842	N	0.054964	T	0.05823	0.0152	N	0.25647	0.755	0.41396	D	0.987646	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.30357	-0.9981	10	0.33940	T	0.23	.	7.6733	0.28471	0.2589:0.6611:0.0:0.08	.	470;470	B8PSA7;P41182	.;BCL6_HUMAN	I	470	ENSP00000384371:M470I;ENSP00000232014:M470I;ENSP00000413122:M470I	ENSP00000232014:M470I	M	-	3	0	BCL6	188928972	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.641000	0.37197	1.468000	0.48064	0.561000	0.74099	ATG		0.632	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		A	187446278	C	A	187446278	3	1	3	1	0	0	0	0	1	0	0	0	1376	710	25	4	730	4	BCL6	3	187446278	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	26225345	187446278	10576152	30	196											
MUC4	4585	hgsc.bcm.edu	37	3	195492266	195492266	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr3:195492266C>T	ENST00000346145.4	-	8	1004	c.965G>A	c.(964-966)cGt>cAt	p.R322H	MUC4_ENST00000475231.1_Missense_Mutation_p.R4506H|MUC4_ENST00000463781.3_Missense_Mutation_p.R4558H|MUC4_ENST00000349607.4_Missense_Mutation_p.R271H	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1315					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCACTCGAGACGGTAGTTGGG	0.652																																																0													45	42	43					3																	195492266		2203	4300	6503	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.965G>A	chr3.hg19:g.195492266C>T	ENSP00000304207:p.Arg322His		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	hg19	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	12.67	2.008048	0.35415	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.41065	1.01;1.36;1.3;1.3	4.15	3.26	0.37387	AMOP (2);	0.208574	0.21556	U	0.072656	T	0.61476	0.2350	M	0.73598	2.24	0.30861	N	0.73352	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.75484	0.986;0.971;0.955;0.955;0.938;0.938;0.981	T	0.64947	-0.6287	10	0.59425	D	0.04	-0.2742	11.3015	0.49309	0.0:0.9096:0.0:0.0904	.	4430;1315;271;322;4558;4506;1263	E7ESK3;Q99102;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;MUC4_HUMAN;.;.;.;.;.	H	271;322;4558;4506;1284	ENSP00000338109:R271H;ENSP00000304207:R322H;ENSP00000417498:R4558H;ENSP00000420243:R4506H	ENSP00000304207:R322H	R	-	2	0	MUC4	196977937	0.955000	0.32602	0.992000	0.48379	0.138000	0.21146	2.284000	0.43478	0.942000	0.37525	0.461000	0.40582	CGT		0.652	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		T	195492266	C	T	195492266	3	4	3	1	0	0	0	0	1	0	0	0	9980	536	19	1	2633	1	MUC4	3	195492266	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	8045988	195492266	2530164	31	197											
NUP54	53371	hgsc.bcm.edu	37	4	77053755	77053755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr4:77053755delT	ENST00000264883.3	-	6	968	c.828delA	c.(826-828)caafs	p.Q276fs	NUP54_ENST00000458189.2_Frame_Shift_Del_p.Q96fs|NUP54_ENST00000342467.6_Frame_Shift_Del_p.Q96fs|NUP54_ENST00000514987.1_Frame_Shift_Del_p.Q228fs|NUP54_ENST00000515460.1_5'Flank	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	276	9 X 2 AA repeats of F-G.			FEQANIKTQLQQL -> LNKPYKNTIAAT (in Ref. 1; AAF67488). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TTACACCAAGTTGCTGCAATT	0.403																																																0													216	209	211					4																	77053755		2203	4300	6503	SO:0001589	frameshift_variant	53371			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.828delA	chr4.hg19:g.77053755delT	ENSP00000264883:p.Gln276fs		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Frame_Shift_Del	DEL	ENST00000264883.3	hg19	CCDS3576.1																																																																																				0.403	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			-	77053755	T	-	77053755	7	5	3	1	0	1	0	1	0	0	0	0	10769	1722	60	0	723	0	NUP54	4	77053755	Frame_Shift_Del	DEL	T	TCGA-2Z-A9J2-01A-11D-A382-10		77053755	114100521	32	198											
PTPN13	5783	hgsc.bcm.edu	37	4	87724921	87724947	+	In_Frame_Del	DEL	TCTGGTAAATACACGGGTGCCAACTTA	TCTGGTAAATACACGGGTGCCAACTTA	-	rs114813002	byFrequency	TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	TCTGGTAAATACACGGGTGCCAACTTA	TCTGGTAAATACACGGGTGCCAACTTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr4:87724921_87724947delTCTGGTAAATACACGGGTGCCAACTTA	ENST00000411767.2	+	43	6628_6654	c.6565_6591delTCTGGTAAATACACGGGTGCCAACTTA	c.(6565-6591)tctggtaaatacacgggtgccaacttadel	p.SGKYTGANL2189del	PTPN13_ENST00000427191.2_In_Frame_Del_p.SGKYTGANL2170del|PTPN13_ENST00000316707.6_In_Frame_Del_p.SGKYTGANL1998del|PTPN13_ENST00000511467.1_In_Frame_Del_p.SGKYTGANL2194del|PTPN13_ENST00000436978.1_In_Frame_Del_p.SGKYTGANL2194del			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2189					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.T2198T(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTGCTTCCCTCTGGTAAATACACGGGTGCCAACTTAAAATCAGTCA	0.454																																																1	Substitution - coding silent(1)	lung(1)																																								SO:0001651	inframe_deletion	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6565_6591delTCTGGTAAATACACGGGTGCCAACTTA	chr4.hg19:g.87724921_87724947delTCTGGTAAATACACGGGTGCCAACTTA	ENSP00000407249:p.Ser2189_Leu2197del		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	In_Frame_Del	DEL	ENST00000411767.2	hg19	CCDS47094.1																																																																																				0.454	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			-	87724947	TCTGGTAAATACACGGGTGCCAACTTA	-	87724921	7	5	3	1	0	1	0	1	0	0	0	0	12788	1551	54	0	6746	0	PTPN13	4	87724921	In_Frame_Del	DEL	TCTGGTAAATACACGGGTGCCAACTTA	TCGA-2Z-A9J2-01A-11D-A382-10	10671166	87724921	103429355	33	199											
GPR98	84059	hgsc.bcm.edu	37	5	90012405	90012405	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr5:90012405C>A	ENST00000405460.2	+	43	9402	c.9306C>A	c.(9304-9306)taC>taA	p.Y3102*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3102	Calx-beta 22. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGTATTGTACATTGTTCGGG	0.428																																																0													93	86	88					5																	90012405		1869	4102	5971	SO:0001587	stop_gained	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9306C>A	chr5.hg19:g.90012405C>A	ENSP00000384582:p.Tyr3102*		O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	hg19	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.942102|15.942102	0.99849|0.99849	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|.	.|.	.|.	6.01|6.01	1.91|1.91	0.25777|0.25777	.|.	.|0.473406	.|0.26016	.|N	.|0.026847	T|.	0.13798|.	0.0334|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34279|.	-0.9835|.	4|.	.|0.02654	.|T	.|1	.|.	9.5215|9.5215	0.39138|0.39138	0.0:0.513:0.0:0.487|0.0:0.513:0.0:0.487	.|.	.|.	.|.	.|.	K|X	668|3102	.|.	.|ENSP00000296619:Y3102X	T|Y	+|+	2|3	0|2	GPR98|GPR98	90048161|90048161	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.398000|0.398000	0.30690|0.30690	-0.367000|-0.367000	0.07553|0.07553	0.049000|0.049000	0.15920|0.15920	0.650000|0.650000	0.86243|0.86243	ACA|TAC		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90012405	C	A	90012405	4	1	3	1	0	0	0	0	0	1	0	0	6723	489	17	4	9476	4	GPR98	5	90012405	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10		90012405	90902855	34	200											
MCC	4163	hgsc.bcm.edu	37	5	112420999	112420999	+	Missense_Mutation	SNP	C	C	A	rs560764461		TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr5:112420999C>A	ENST00000302475.4	-	7	1400	c.837G>T	c.(835-837)gaG>gaT	p.E279D	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.E216D|MCC_ENST00000408903.3_Missense_Mutation_p.E469D	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	279					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GAGTTTGAAGCTCTCTGACCT	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18161	0.0		0.0	False		,,,				2504	0.0															0													134	134	134					5																	112420999		2202	4300	6502	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.837G>T	chr5.hg19:g.112420999C>A	ENSP00000305617:p.Glu279Asp		D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	hg19	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894175	0.72639	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.55930	0.49;0.49;0.49	5.73	2.6	0.31112	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	L	0.27053	0.805	0.47407	D	0.99941	D;D;D;D	0.57257	0.979;0.979;0.974;0.979	D;D;D;D	0.71414	0.973;0.973;0.969;0.973	T	0.50039	-0.8874	10	0.44086	T	0.13	-27.2275	7.6576	0.28383	0.0:0.5691:0.0:0.4309	.	279;241;469;279	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	D	279;216;469	ENSP00000305617:E279D;ENSP00000421615:E216D;ENSP00000386227:E469D	ENSP00000305617:E279D	E	-	3	2	MCC	112448898	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	0.795000	0.26972	0.781000	0.33589	0.655000	0.94253	GAG		0.537	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		A	112420999	C	A	112420999	3	1	3	1	0	0	0	0	1	0	0	0	9375	796	28	4	1696	4	MCC	5	112420999	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	22408594	112420999	68494261	35	201											
PCDHGB7	56099	hgsc.bcm.edu	37	5	140797588	140797588	+	Silent	SNP	A	A	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr5:140797588A>C	ENST00000398594.2	+	1	162	c.162A>C	c.(160-162)ctA>ctC	p.L54L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	54	Cadherin 1. {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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAGGATCTAGGGCTTAGTG	0.612											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													62	68	66					5																	140797588		1962	4150	6112	SO:0001819	synonymous_variant	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.162A>C	chr5.hg19:g.140797588A>C		1659	Q9UN63	Silent	SNP	ENST00000398594.2	hg19	CCDS47293.1																																																																																				0.612	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		C	140797588	A	C	140797588	2	2	3	1	0	0	0	0	0	0	0	1	11570	407	15	5		5	PCDHGB7	5	140797588	Silent	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	28376589	140797588	40117672	36	202											
SH3TC2	79628	hgsc.bcm.edu	37	5	148386485	148386485	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr5:148386485C>G	ENST00000515425.1	-	16	3735	c.3634G>C	c.(3634-3636)Gtg>Ctg	p.V1212L	SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000502274.1_Missense_Mutation_p.V74L|SH3TC2_ENST00000512049.1_Missense_Mutation_p.V1205L	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1212					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATAATACACCTTGGCATAG	0.552																																																0													114	117	116					5																	148386485		2203	4300	6503	SO:0001583	missense	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3634G>C	chr5.hg19:g.148386485C>G	ENSP00000423660:p.Val1212Leu		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	hg19	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885931	0.72410	.	.	ENSG00000169247	ENST00000502274;ENST00000515425;ENST00000512049	T;D;T	0.81499	0.55;-1.5;-0.91	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.133551	0.49916	D	0.000137	T	0.79003	0.4373	M	0.62723	1.935	0.80722	D	1	B;B;B	0.24043	0.096;0.096;0.096	B;B;B	0.24848	0.051;0.056;0.051	T	0.74583	-0.3617	10	0.51188	T	0.08	-10.8348	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	1205;1212;1212	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	L	74;1212;1205	ENSP00000421092:V74L;ENSP00000423660:V1212L;ENSP00000421860:V1205L	ENSP00000421092:V74L	V	-	1	0	SH3TC2	148366678	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	3.051000	0.49885	2.941000	0.99782	0.655000	0.94253	GTG		0.552	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		G	148386485	C	G	148386485	3	3	3	1	0	0	0	0	1	0	0	0	14268	507	18	4	240	4	SH3TC2	5	148386485	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	7588897	148386485	32528775	37	203											
C2	717	hgsc.bcm.edu	37	6	31905164	31905164	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr6:31905164C>A	ENST00000299367.5	+	8	1333	c.1057C>A	c.(1057-1059)Caa>Aaa	p.Q353K	C2_ENST00000469372.1_Missense_Mutation_p.Q107K|CFB_ENST00000477310.1_Missense_Mutation_p.Q171K|CFB_ENST00000456570.1_Missense_Mutation_p.Q200K|C2_ENST00000452323.2_Missense_Mutation_p.Q139K|C2_ENST00000442278.2_Missense_Mutation_p.Q221K|CFB_ENST00000556679.1_Missense_Mutation_p.Q200K	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	353	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GATGAACAACCAAATGCGACT	0.473																																																0													212	207	209					6																	31905164		1511	2709	4220	SO:0001583	missense	717				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1057C>A	chr6.hg19:g.31905164C>A	ENSP00000299367:p.Gln353Lys		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	hg19	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131136	0.37630	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310	D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.97	4.06	0.47325	von Willebrand factor, type A (3);	0.000000	0.36972	N	0.002318	T	0.74068	0.3668	L	0.49350	1.555	0.26005	N	0.98206	P;P;P;P;P;P;P;B;P	0.45672	0.791;0.84;0.49;0.84;0.673;0.807;0.814;0.048;0.864	P;P;B;B;B;P;P;P;B	0.48488	0.463;0.498;0.299;0.413;0.395;0.486;0.579;0.45;0.407	T	0.65689	-0.6107	10	0.25106	T	0.35	-13.0037	13.1289	0.59369	0.0:0.8253:0.1747:0.0	.	200;324;139;107;221;38;221;353;140	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0	.;.;.;.;.;.;.;CO2_HUMAN;.	K	107;140;140;139;353;38;221;200;200;171	ENSP00000418923:Q107K;ENSP00000417482:Q140K;ENSP00000392322:Q139K;ENSP00000299367:Q353K;ENSP00000395683:Q221K;ENSP00000451848:Q200K;ENSP00000410815:Q200K;ENSP00000418996:Q171K	ENSP00000299367:Q353K	Q	+	1	0	CFB;C2;XXbac-BPG116M5.17	32013143	0.995000	0.38212	0.955000	0.39395	0.047000	0.14425	1.563000	0.36364	2.596000	0.87737	0.544000	0.68410	CAA		0.473	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			A	31905164	C	A	31905164	3	1	3	1	0	0	0	0	1	0	0	0	2076	595	21	4	1164	4	C2	6	31905164	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10		31905164	139209903	38	204											
WDR27	253769	hgsc.bcm.edu	37	6	170038673	170038674	+	Frame_Shift_Del	DEL	TT	TT	-	rs115828649	byFrequency	TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr6:170038673_170038674delTT	ENST00000448612.1	-	18	1939_1940	c.1830_1831delAA	c.(1828-1833)cgaatgfs	p.M611fs	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Frame_Shift_Del_p.M484fs|WDR27_ENST00000333572.6_Frame_Shift_Del_p.M611fs	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	581						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GCCGACCACATTCGCAGGGTCC	0.599																																																0																																										SO:0001589	frameshift_variant	253769			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1830_1831delAA	chr6.hg19:g.170038673_170038674delTT	ENSP00000416289:p.Met611fs		A5PLM8|C9JGV0|Q5T066	Frame_Shift_Del	DEL	ENST00000448612.1	hg19	CCDS47520.2																																																																																				0.599	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		-	170038674	TT	-	170038673	7	5	3	1	0	1	0	1	0	0	0	0	17289	1493	52	0	774	0	WDR27	6	170038673	Frame_Shift_Del	DEL	TT	TCGA-2Z-A9J2-01A-11D-A382-10	138133509	170038673	1076394	39	205	2	2									
WDR27	253769	hgsc.bcm.edu	37	6	170038676	170038680	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-	rs201534381		TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	GCAGG	GCAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr6:170038676_170038680delGCAGG	ENST00000448612.1	-	18	1933_1937	c.1824_1828delCCTGC	c.(1822-1830)accctgcgafs	p.LR609fs	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Frame_Shift_Del_p.LR482fs|WDR27_ENST00000333572.6_Frame_Shift_Del_p.LR609fs	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	579						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GACCACATTCGCAGGGTCCCGTCCC	0.605																																																0																																										SO:0001589	frameshift_variant	253769			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1824_1828delCCTGC	chr6.hg19:g.170038676_170038680delGCAGG	ENSP00000416289:p.Leu609fs		A5PLM8|C9JGV0|Q5T066	Frame_Shift_Del	DEL	ENST00000448612.1	hg19	CCDS47520.2																																																																																				0.605	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		-	170038680	GCAGG	-	170038676	7	5	3	1	0	1	0	1	0	0	0	0	17289	1095	38	0	777	0	WDR27	6	170038676	Frame_Shift_Del	DEL	GCAGG	TCGA-2Z-A9J2-01A-11D-A382-10	3	170038676	1076391	40	206	2	2									
AZGP1	563	hgsc.bcm.edu	37	7	99565822	99565822	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr7:99565822A>T	ENST00000292401.4	-	3	705	c.569T>A	c.(568-570)cTg>cAg	p.L190Q	AZGP1_ENST00000411734.1_Missense_Mutation_p.L187Q|AZGP1_ENST00000483612.1_5'Flank	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	190					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GTATTTCCGCAGAGTCGCAGG	0.547																																																0													99	96	97					7																	99565822		2203	4300	6503	SO:0001583	missense	563			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.569T>A	chr7.hg19:g.99565822A>T	ENSP00000292401:p.Leu190Gln		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	hg19	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240853	0.79912	.	.	ENSG00000160862	ENST00000292401;ENST00000411734	D;D	0.96554	-4.05;-4.05	2.76	2.76	0.32466	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.26522	U	0.023916	D	0.98560	0.9519	H	0.97918	4.105	0.45762	D	0.99865	D	0.76494	0.999	D	0.75020	0.985	D	0.98106	1.0417	10	0.87932	D	0	.	9.2502	0.37551	1.0:0.0:0.0:0.0	.	190	P25311	ZA2G_HUMAN	Q	190;187	ENSP00000292401:L190Q;ENSP00000396093:L187Q	ENSP00000292401:L190Q	L	-	2	0	AZGP1	99403758	1.000000	0.71417	0.063000	0.19743	0.661000	0.39034	7.145000	0.77365	1.200000	0.43188	0.260000	0.18958	CTG		0.547	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		T	99565822	A	T	99565822	3	4	3	1	0	0	0	0	1	0	0	0	1239	188	7	5	335	5	AZGP1	7	99565822	Missense_Mutation	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10		99565822	59572841	41	207											
GPR37	2861	hgsc.bcm.edu	37	7	124387366	124387366	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr7:124387366A>G	ENST00000303921.2	-	2	1705	c.1055T>C	c.(1054-1056)tTa>tCa	p.L352S		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	352					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGAGCACATAAGGTGAAAGT	0.473																																																0													60	62	61					7																	124387366		2203	4300	6503	SO:0001583	missense	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1055T>C	chr7.hg19:g.124387366A>G	ENSP00000306449:p.Leu352Ser		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	hg19	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.098540	0.56183	.	.	ENSG00000170775	ENST00000303921	T	0.81415	-1.49	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000298	D	0.89259	0.6664	M	0.76002	2.32	0.51233	D	0.999911	D	0.89917	1.0	D	0.97110	1.0	D	0.90432	0.4425	10	0.87932	D	0	-7.7845	15.2683	0.73681	1.0:0.0:0.0:0.0	.	352	O15354	GPR37_HUMAN	S	352	ENSP00000306449:L352S	ENSP00000306449:L352S	L	-	2	0	GPR37	124174602	0.998000	0.40836	0.949000	0.38748	0.352000	0.29268	9.339000	0.96797	2.202000	0.70862	0.533000	0.62120	TTA		0.473	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		G	124387366	A	G	124387366	3	3	3	1	0	0	0	0	1	0	0	0	6693	372	13	3	790	3	GPR37	7	124387366	Missense_Mutation	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	24821544	124387366	34751297	42	208											
TMEM139	135932	hgsc.bcm.edu	37	7	142983223	142983223	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr7:142983223T>C	ENST00000359333.3	+	2	686	c.173T>C	c.(172-174)tTt>tCt	p.F58S	TMEM139_ENST00000409541.1_Missense_Mutation_p.F58S|TMEM139_ENST00000409102.1_Missense_Mutation_p.F58S|TMEM139_ENST00000410004.1_Missense_Mutation_p.F58S|CASP2_ENST00000392925.2_5'Flank|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409244.1_Missense_Mutation_p.F58S|TMEM139_ENST00000471161.1_Intron|AC073342.12_ENST00000427392.1_RNA|AC073342.12_ENST00000446192.1_RNA	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	58						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CTGGTCCGGTTTCTGGAATGG	0.552																																																0													156	150	152					7																	142983223		2203	4300	6503	SO:0001583	missense	135932			AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.173T>C	chr7.hg19:g.142983223T>C	ENSP00000352284:p.Phe58Ser		B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	ENST00000359333.3	hg19	CCDS5878.1	.	.	.	.	.	.	.	.	.	.	T	9.451	1.090601	0.20471	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	5.0	0.855	0.19013	.	0.643829	0.15236	N	0.273162	T	0.17023	0.0409	N	0.19112	0.55	0.09310	N	1	B	0.19583	0.037	B	0.17433	0.018	T	0.15407	-1.0438	9	0.22706	T	0.39	0.0033	1.6402	0.02750	0.1701:0.0953:0.1765:0.5581	.	58	Q8IV31	TM139_HUMAN	S	58	.	ENSP00000352284:F58S	F	+	2	0	TMEM139	142693345	0.000000	0.05858	0.374000	0.26016	0.030000	0.12068	0.273000	0.18662	0.315000	0.23110	0.456000	0.33151	TTT		0.552	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		C	142983223	T	C	142983223	3	2	3	1	0	0	0	0	1	0	0	0	16059	1841	64	3	175	3	TMEM139	7	142983223	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	18595857	142983223	16155440	43	209											
PDIA4	9601	hgsc.bcm.edu	37	7	148712027	148712027	+	Missense_Mutation	SNP	C	C	A	rs565062386		TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr7:148712027C>A	ENST00000286091.4	-	4	815	c.583G>T	c.(583-585)Gat>Tat	p.D195Y		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	195	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGAATGATATCTGCATCATTC	0.537																																																0													138	103	115					7																	148712027		2203	4300	6503	SO:0001583	missense	9601			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.583G>T	chr7.hg19:g.148712027C>A	ENSP00000286091:p.Asp195Tyr		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	hg19	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081506	0.76528	.	.	ENSG00000155660	ENST00000286091	T	0.43688	0.94	4.7	4.7	0.59300	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	L	0.53780	1.695	0.80722	D	1	D	0.69078	0.997	P	0.62298	0.9	T	0.63633	-0.6593	10	0.87932	D	0	.	17.6525	0.88169	0.0:1.0:0.0:0.0	.	195	P13667	PDIA4_HUMAN	Y	195	ENSP00000286091:D195Y	ENSP00000286091:D195Y	D	-	1	0	PDIA4	148342960	1.000000	0.71417	0.824000	0.32777	0.694000	0.40290	7.561000	0.82288	2.153000	0.67306	0.404000	0.27445	GAT		0.537	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		A	148712027	C	A	148712027	3	1	3	1	0	0	0	0	1	0	0	0	11672	913	32	4	1382	4	PDIA4	7	148712027	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	5728804	148712027	10426636	44	210											
TMEM176A	55365	hgsc.bcm.edu	37	7	150500886	150500886	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr7:150500886T>C	ENST00000484928.1	+	5	1102	c.521T>C	c.(520-522)cTa>cCa	p.L174P	TMEM176A_ENST00000461345.1_Missense_Mutation_p.L115P|TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000004103.3_Missense_Mutation_p.L174P			Q96HP8	T176A_HUMAN	transmembrane protein 176A	174					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCAGAAGGCTACACCTATGT	0.582																																																0													53	51	52					7																	150500886		2203	4300	6503	SO:0001583	missense	55365			AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.521T>C	chr7.hg19:g.150500886T>C	ENSP00000417626:p.Leu174Pro		D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	hg19	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.743811	0.30865	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.24908	4.37;4.37;4.37;4.37;1.83	3.33	-6.65	0.01795	.	2.443990	0.01405	N	0.013769	T	0.38268	0.1034	L	0.47716	1.5	0.21020	N	0.999808	D	0.65815	0.995	P	0.61658	0.892	T	0.53732	-0.8397	10	0.37606	T	0.19	-16.8622	11.8227	0.52247	0.8007:0.0:0.0:0.1993	.	174	Q96HP8	T176A_HUMAN	P	174;174;115;126;115	ENSP00000417626:L174P;ENSP00000004103:L174P;ENSP00000420818:L115P;ENSP00000417834:L126P;ENSP00000420081:L115P	ENSP00000004103:L174P	L	+	2	0	TMEM176A	150131819	0.000000	0.05858	0.001000	0.08648	0.230000	0.25150	-0.970000	0.03810	-1.688000	0.01435	0.374000	0.22700	CTA		0.582	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		C	150500886	T	C	150500886	3	2	3	1	0	0	0	0	1	0	0	0	16097	1522	53	3	535	3	TMEM176A	7	150500886	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	1788859	150500886	8637777	45	211											
NUDT18	79873	hgsc.bcm.edu	37	8	21966703	21966708	+	Splice_Site	DEL	CGCACG	CGCACG	-	rs58343576		TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	CGCACG	CGCACG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr8:21966703_21966708delCGCACG	ENST00000309188.6	-	2	223_228	c.105_110delCGTGCG	c.(103-111)cccgtgcgg>ccg	p.VR36del	NUDT18_ENST00000522405.1_5'UTR|NUDT18_ENST00000521807.2_In_Frame_Del_p.RA36del	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	36					dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		TTCCGCAGCCCGCAcggggcgccggc	0.782																																																0																																										SO:0001630	splice_region_variant	79873				CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"Nudix motif containing"	26194	protein-coding gene	gene with protein product	"mutT human homolog 3"	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.102+3CGTGCG>-	chr8.hg19:g.21966703_21966708delCGCACG			Q8IZ75|Q9H687	Frame_Shift_Del	DEL	ENST00000309188.6	hg19																																																																																					0.782	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815	In_Frame_Del	-	21966708	CGCACG	-	21966703	8	5	3	1	0	1	0	1	0	0	1	0	10737	639	23	0	874	0	NUDT18	8	21966703	Splice_Site	DEL	CGCACG	TCGA-2Z-A9J2-01A-11D-A382-10		21966703	124397319	46	212											
KIF13B	23303	hgsc.bcm.edu	37	8	29024953	29024953	+	Silent	SNP	G	G	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr8:29024953G>T	ENST00000524189.1	-	11	1133	c.1095C>A	c.(1093-1095)gcC>gcA	p.A365A	KIF13B_ENST00000521515.1_Silent_p.A365A	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	365					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GGATAATTCGGGCATTAGGGT	0.547																																																0													62	60	61					8																	29024953		1950	4157	6107	SO:0001819	synonymous_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1095C>A	chr8.hg19:g.29024953G>T			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	hg19	CCDS55217.1																																																																																				0.547	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			T	29024953	G	T	29024953	2	4	3	1	0	0	0	0	0	0	0	1	8277	1219	43	4		4	KIF13B	8	29024953	Silent	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	7058250	29024953	117339069	47	213											
MYST3	7994	hgsc.bcm.edu	37	8	41906305	41906305	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr8:41906305G>T	ENST00000396930.3	-	3	734	c.191C>A	c.(190-192)tCa>tAa	p.S64*	KAT6A_ENST00000265713.2_Nonsense_Mutation_p.S64*|KAT6A_ENST00000485568.1_Nonsense_Mutation_p.S64*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.S64*	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	64	Required for activation of RUNX1-1.|Required for nuclear localization.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCCTTTATTTGAGACTTTTAA	0.368																																																0													171	168	169					8																	41906305		2203	4300	6503	SO:0001587	stop_gained	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.191C>A	chr8.hg19:g.41906305G>T	ENSP00000380136:p.Ser64*		Q76L81	Nonsense_Mutation	SNP	ENST00000396930.3	hg19	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	40	8.032524	0.98619	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	.	.	.	5.66	5.66	0.87406	.	0.106722	0.42172	D	0.000758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-13.388	19.7395	0.96220	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000265713:S64X	S	-	2	0	KAT6A	42025462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.335000	0.96500	2.669000	0.90835	0.655000	0.94253	TCA		0.368	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		T	41906305	G	T	41906305	4	4	3	1	0	0	0	0	0	1	0	0	10106	1294	45	4	5887	4	MYST3	8	41906305	Nonsense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	12881352	41906305	104457717	48	214											
ZFHX4	79776	hgsc.bcm.edu	37	8	77776082	77776082	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr8:77776082A>T	ENST00000521891.2	+	11	10580	c.10132A>T	c.(10132-10134)Aaa>Taa	p.K3378*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.K3333*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.K3329*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.K3352*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAAAGCACAAAAGAAGAACC	0.408										HNSCC(33;0.089)																																						0													31	29	30					8																	77776082		1849	4085	5934	SO:0001587	stop_gained	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10132A>T	chr8.hg19:g.77776082A>T	ENSP00000430497:p.Lys3378*		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	52	18.637453	0.99908	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.5	4.5	0.54988	.	0.000000	0.47455	U	0.000231	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9762	0.64275	1.0:0.0:0.0:0.0	.	.	.	.	X	3378;3362;3333;3329;3352	.	ENSP00000050961:K3329X	K	+	1	0	ZFHX4	77938637	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.177000	0.77650	1.907000	0.55213	0.496000	0.49642	AAA		0.408	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77776082	A	T	77776082	4	4	3	1	0	0	0	0	0	1	0	0	17640	15	1	5	10170	5	ZFHX4	8	77776082	Nonsense_Mutation	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	35869777	77776082	68587940	49	215											
RIMS2	9699	hgsc.bcm.edu	37	8	105257207	105257207	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr8:105257207A>T	ENST00000436393.2	+	24	3693	c.3452A>T	c.(3451-3453)gAa>gTa	p.E1151V	RIMS2_ENST00000262231.10_Missense_Mutation_p.E972V|RIMS2_ENST00000507740.1_Missense_Mutation_p.E947V|RIMS2_ENST00000339750.2_Missense_Mutation_p.E69V|RIMS2_ENST00000406091.3_Missense_Mutation_p.E1133V			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1195					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTGGCCGTGGAAATGAGGAAC	0.468										HNSCC(12;0.0054)																																						0													130	136	134					8																	105257207		2024	4187	6211	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3452A>T	chr8.hg19:g.105257207A>T	ENSP00000390665:p.Glu1151Val		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	hg19		.	.	.	.	.	.	.	.	.	.	A	21.4	4.140378	0.77775	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.25250	2.39;2.1;2.13;2.01;2.49;1.83;1.81	5.05	5.05	0.67936	.	.	.	.	.	T	0.47002	0.1422	L	0.58510	1.815	0.80722	D	1	D;D;D;P;P	0.63880	0.993;0.993;0.984;0.939;0.939	D;D;D;P;P	0.72338	0.977;0.977;0.946;0.58;0.58	T	0.44390	-0.9331	9	0.59425	D	0.04	.	14.9548	0.71104	1.0:0.0:0.0:0.0	.	1195;1151;972;947;1133	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	V	1170;1133;1195;972;947;1140;1151;69;69	ENSP00000384892:E1133V;ENSP00000262231:E972V;ENSP00000423559:E947V;ENSP00000386228:E1140V;ENSP00000390665:E1151V;ENSP00000428478:E69V;ENSP00000342051:E69V	ENSP00000262231:E972V	E	+	2	0	RIMS2	105326383	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.116000	0.77119	2.119000	0.64992	0.528000	0.53228	GAA		0.468	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		T	105257207	A	T	105257207	3	4	3	1	0	0	0	0	1	0	0	0	13374	246	9	5	3672	5	RIMS2	8	105257207	Missense_Mutation	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	27481125	105257207	41106815	50	216											
C9orf72	203228	hgsc.bcm.edu	37	9	27566893	27566893	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr9:27566893C>T	ENST00000380003.3	-	2	289	c.226G>A	c.(226-228)Gag>Aag	p.E76K	C9orf72_ENST00000379997.3_Missense_Mutation_p.E76K|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	76					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GCACCACTCTCTGCATTTCGA	0.403																																																0													101	96	98					9																	27566893		2203	4300	6503	SO:0001583	missense	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.226G>A	chr9.hg19:g.27566893C>T	ENSP00000369339:p.Glu76Lys		A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	hg19	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026734	0.93518	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	T;T;T	0.44083	0.93;0.93;0.93	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	N	0.24115	0.695	0.80722	D	1	D;P	0.67145	0.996;0.952	D;P	0.73708	0.981;0.641	T	0.42816	-0.9429	9	.	.	.	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	76;76	Q96LT7-2;Q96LT7	.;CI072_HUMAN	K	76	ENSP00000369339:E76K;ENSP00000369333:E76K;ENSP00000369331:E76K	.	E	-	1	0	C9orf72	27556893	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	GAG		0.403	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		T	27566893	C	T	27566893	3	4	3	1	0	0	0	0	1	0	0	0	2497	922	32	2	1263	2	C9orf72	9	27566893	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10		27566893	113646538	51	217											
TMEM2	23670	hgsc.bcm.edu	37	9	74345097	74345097	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr9:74345097T>C	ENST00000377044.4	-	9	2385	c.1846A>G	c.(1846-1848)Act>Gct	p.T616A	TMEM2_ENST00000377066.5_Missense_Mutation_p.T553A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	616					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGGAACAAAGTATTCCTCTGT	0.423																																																0													124	117	119					9																	74345097		2203	4300	6503	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1846A>G	chr9.hg19:g.74345097T>C	ENSP00000366243:p.Thr616Ala		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	hg19	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481878	0.63849	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.58652	0.32;0.32	5.63	5.63	0.86233	Pectin lyase fold/virulence factor (1);	0.295695	0.41294	D	0.000910	T	0.60287	0.2257	M	0.78456	2.415	0.80722	D	1	B;B	0.28178	0.061;0.202	B;B	0.28232	0.04;0.087	T	0.58763	-0.7579	10	0.29301	T	0.29	.	15.8301	0.78743	0.0:0.0:0.0:1.0	.	616;553	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	A	616;553	ENSP00000366243:T616A;ENSP00000366266:T553A	ENSP00000366243:T616A	T	-	1	0	TMEM2	73534917	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.579000	0.82511	2.140000	0.66376	0.477000	0.44152	ACT		0.423	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		C	74345097	T	C	74345097	3	2	3	1	0	0	0	0	1	0	0	0	16126	1638	57	3	2369	3	TMEM2	9	74345097	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	46778204	74345097	66868334	52	218											
PHF2	5253	hgsc.bcm.edu	37	9	96421819	96421819	+	Silent	SNP	C	C	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr9:96421819C>T	ENST00000359246.4	+	11	1633	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	422					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGGACGAGCTCCCGGAGCACT	0.612																																																0													61	56	58					9																	96421819		2203	4300	6503	SO:0001819	synonymous_variant	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1266C>T	chr9.hg19:g.96421819C>T			Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	hg19	CCDS35069.1																																																																																				0.612	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		T	96421819	C	T	96421819	2	4	3	1	0	0	0	0	0	0	0	1	11832	842	30	2		2	PHF2	9	96421819	Silent	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	22076722	96421819	44791612	53	219											
CUBN	8029	hgsc.bcm.edu	37	10	17110184	17110184	+	Silent	SNP	A	A	G			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr10:17110184A>G	ENST00000377833.4	-	21	2952	c.2887T>C	c.(2887-2889)Tta>Cta	p.L963L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	963	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTTGGACTAATATATGCCAA	0.398																																																0													165	157	160					10																	17110184		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2887T>C	chr10.hg19:g.17110184A>G			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	hg19	CCDS7113.1																																																																																				0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	17110184	A	G	17110184	2	3	3	1	0	0	0	0	0	0	0	1	4053	98	4	3		3	CUBN	10	17110184	Silent	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10		17110184	118424563	54	220											
PTPLA	9200	hgsc.bcm.edu	37	10	17659300	17659301	+	Frame_Shift_Ins	INS	-	-	CCGCTGC			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr10:17659300_17659301insCCGCTGC	ENST00000361271.3	-	1	75_76	c.38_39insGCAGCGG	c.(37-39)ggcfs	p.-13fs	PTPLA_ENST00000326961.6_Frame_Shift_Ins_p.-13fs	NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CAGCCCGAGAGCCGCTGCCCGC	0.762																																																0																																										SO:0001589	frameshift_variant	9200			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.32_38dupGCAGCGG	chr10.hg19:g.17659301_17659307dupCCGCTGC	ENSP00000355308:p.Gly13fs		B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Frame_Shift_Ins	INS	ENST00000361271.3	hg19	CCDS7121.1																																																																																				0.762	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		CCGCTGC	17659301	-	CCGCTGC	17659300	7	5	3	1	0	1	1	0	0	0	0	0	12780	958	34	0	855	0	PTPLA	10	17659300	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J2-01A-11D-A382-10	549116	17659300	117875447	55	221											
C10orf137	26098	hgsc.bcm.edu	37	10	127411636	127411636	+	Splice_Site	SNP	G	G	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr10:127411636G>T	ENST00000356792.4	+	3	549		c.e3-1		C10orf137_ENST00000337623.3_Splice_Site	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN							regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCTTTGGTAGCTTTGGCATG	0.373																																																0													359	325	337					10																	127411636		2203	4300	6503	SO:0001630	splice_region_variant	26098																														ENST00000356792.4:c.318-1G>T	chr10.hg19:g.127411636G>T			B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Splice_Site	SNP	ENST00000356792.4	hg19	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652557	0.67472	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8405	0.96681	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf137	127401626	1.000000	0.71417	0.681000	0.30009	0.712000	0.41017	9.094000	0.94168	2.692000	0.91855	0.655000	0.94253	.		0.373	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		Intron	T	127411636	G	T	127411636	5	4	3	1	0	0	0	0	0	0	1	0	1596	985	34	4	327	4	C10orf137	10	127411636	Splice_Site	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	109752336	127411636	8123111	56	222											
OR51Q1	390061	hgsc.bcm.edu	37	11	5443619	5443619	+	Silent	SNP	G	G	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr11:5443619G>T	ENST00000300778.4	+	1	279	c.189G>T	c.(187-189)ctG>ctT	p.L63L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATGTATCTGTTTCTCTCCA	0.552																																																0													268	231	243					11																	5443619		2201	4297	6498	SO:0001819	synonymous_variant	390061			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.189G>T	chr11.hg19:g.5443619G>T			B2RNN1	Silent	SNP	ENST00000300778.4	hg19	CCDS31381.1																																																																																				0.552	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		T	5443619	G	T	5443619	2	4	3	1	0	0	0	0	0	0	0	1	11106	1364	48	4		4	OR51Q1	11	5443619	Silent	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10		5443619	129562897	57	223											
NLRP10	338322	hgsc.bcm.edu	37	11	7982378	7982378	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr11:7982378T>G	ENST00000328600.2	-	2	942	c.781A>C	c.(781-783)Aag>Cag	p.K261Q		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	261	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTTCAACTTTTCTTCAAAG	0.552																																																0													65	66	66					11																	7982378		2201	4296	6497	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.781A>C	chr11.hg19:g.7982378T>G	ENSP00000327763:p.Lys261Gln		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	hg19	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	T	2.103	-0.405652	0.04832	.	.	ENSG00000182261	ENST00000328600	T	0.79247	-1.25	4.68	-9.36	0.00629	NACHT nucleoside triphosphatase (1);	1.973700	0.03508	N	0.219126	T	0.43366	0.1244	N	0.02315	-0.6	0.09310	N	1	B	0.11235	0.004	B	0.18263	0.021	T	0.42120	-0.9470	10	0.12430	T	0.62	.	2.4824	0.04590	0.0922:0.362:0.2663:0.2796	.	261	Q86W26	NAL10_HUMAN	Q	261	ENSP00000327763:K261Q	ENSP00000327763:K261Q	K	-	1	0	NLRP10	7938954	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.595000	0.05727	-1.919000	0.01071	-1.137000	0.01932	AAG		0.552	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		G	7982378	T	G	7982378	3	3	3	1	0	0	0	0	1	0	0	0	10474	1850	64	5	1190	5	NLRP10	11	7982378	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	2538759	7982378	127024138	58	224											
OR4C11	219429	hgsc.bcm.edu	37	11	55371658	55371658	+	Silent	SNP	C	C	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr11:55371658C>T	ENST00000302231.4	-	1	216	c.192G>A	c.(190-192)ttG>ttA	p.L64L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CTGCAAAGGACAAATAAAATA	0.403																																																0													78	75	76					11																	55371658		2178	3997	6175	SO:0001819	synonymous_variant	219429			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.192G>A	chr11.hg19:g.55371658C>T			B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	hg19	CCDS31503.1																																																																																				0.403	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		T	55371658	C	T	55371658	2	4	3	1	0	0	0	0	0	0	0	1	11047	477	17	2		2	OR4C11	11	55371658	Silent	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	47389280	55371658	79634858	59	225											
CD5	921	hgsc.bcm.edu	37	11	60891376	60891376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr11:60891376C>T	ENST00000347785.3	+	8	1412	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	416					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GAAGCAGCGCCAGTGGATTGG	0.632																																																0													77	68	71					11																	60891376		2203	4299	6502	SO:0001587	stop_gained	921			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1246C>T	chr11.hg19:g.60891376C>T	ENSP00000342681:p.Gln416*		A0N0P4|A8K9I3	Nonsense_Mutation	SNP	ENST00000347785.3	hg19	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	C	36	5.948840	0.97134	.	.	ENSG00000110448	ENST00000347785	.	.	.	4.32	4.32	0.51571	.	0.000000	0.44902	D	0.000408	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-22.0462	15.0108	0.71547	0.0:1.0:0.0:0.0	.	.	.	.	X	416	.	ENSP00000342681:Q416X	Q	+	1	0	CD5	60647952	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	4.549000	0.60726	1.951000	0.56629	0.313000	0.20887	CAG		0.632	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		T	60891376	C	T	60891376	4	4	3	1	0	0	0	0	0	1	0	0	3023	595	21	2	1276	2	CD5	11	60891376	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	5519718	60891376	74115140	60	226											
MED17	9440	hgsc.bcm.edu	37	11	93535078	93535078	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr11:93535078A>G	ENST00000251871.3	+	9	1693	c.1406A>G	c.(1405-1407)gAt>gGt	p.D469G	RN7SL195P_ENST00000582088.1_RNA|MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	469					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATATCAATGATGTTTATGAA	0.328																																																0													77	69	71					11																	93535078		2201	4298	6499	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1406A>G	chr11.hg19:g.93535078A>G	ENSP00000251871:p.Asp469Gly		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	hg19	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573152	0.65765	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.55588	0.51	5.68	5.68	0.88126	.	0.044636	0.85682	D	0.000000	T	0.46073	0.1374	L	0.44542	1.39	0.80722	D	1	P	0.47762	0.9	B	0.38500	0.275	T	0.50074	-0.8870	10	0.49607	T	0.09	-26.9024	16.2164	0.82224	1.0:0.0:0.0:0.0	.	469	Q9NVC6	MED17_HUMAN	G	469;439	ENSP00000251871:D469G	ENSP00000251871:D469G	D	+	2	0	MED17	93174726	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.916000	0.92745	2.289000	0.77006	0.533000	0.62120	GAT		0.328	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		G	93535078	A	G	93535078	3	3	3	1	0	0	0	0	1	0	0	0	9437	333	12	3	1440	3	MED17	11	93535078	Missense_Mutation	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	32643702	93535078	41471438	61	227											
FOXM1	2305	hgsc.bcm.edu	37	12	2967807	2967812	+	In_Frame_Del	DEL	CTGTAG	CTGTAG	-			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	CTGTAG	CTGTAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr12:2967807_2967812delCTGTAG	ENST00000359843.3	-	9	2352_2357	c.2284_2289delCTACAG	c.(2284-2289)ctacagdel	p.LQ762del	Y_RNA_ENST00000410561.1_RNA|AC005841.1_ENST00000382678.3_5'Flank|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000342628.2_In_Frame_Del_p.LQ800del|FOXM1_ENST00000361953.3_In_Frame_Del_p.LQ747del	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	762					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CAGGGCTCTACTGTAGCTCAGGAATA	0.597																																																0																																										SO:0001651	inframe_deletion	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2284_2289delCTACAG	chr12.hg19:g.2967807_2967812delCTGTAG	ENSP00000352901:p.Leu762_Gln763del		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	In_Frame_Del	DEL	ENST00000359843.3	hg19	CCDS8515.1																																																																																				0.597	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		-	2967812	CTGTAG	-	2967807	7	5	3	1	0	1	0	1	0	0	0	0	6020	564	20	0	6	0	FOXM1	12	2967807	In_Frame_Del	DEL	CTGTAG	TCGA-2Z-A9J2-01A-11D-A382-10		2967807	130884088	62	228											
KCNA5	3741	hgsc.bcm.edu	37	12	5154784	5154784	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr12:5154784G>T	ENST00000252321.3	+	1	1700	c.1471G>T	c.(1471-1473)Gtt>Ttt	p.V491F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	491					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCCCATCACTGTTGGGGGCAA	0.592																																																0													120	110	114					12																	5154784		2203	4300	6503	SO:0001583	missense	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1471G>T	chr12.hg19:g.5154784G>T	ENSP00000252321:p.Val491Phe		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	hg19	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527624	0.27299	.	.	ENSG00000130037	ENST00000252321	D	0.97553	-4.43	4.87	3.99	0.46301	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.95749	0.8617	L	0.54323	1.7	0.38272	D	0.942173	B	0.27997	0.197	B	0.36464	0.225	D	0.95565	0.8633	10	0.62326	D	0.03	.	12.4131	0.55478	0.0804:0.0:0.9196:0.0	.	491	P22460	KCNA5_HUMAN	F	491	ENSP00000252321:V491F	ENSP00000252321:V491F	V	+	1	0	KCNA5	5025045	0.998000	0.40836	0.069000	0.20011	0.781000	0.44180	2.520000	0.45554	1.292000	0.44672	0.561000	0.74099	GTT		0.592	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		T	5154784	G	T	5154784	3	4	3	1	0	0	0	0	1	0	0	0	8008	1377	48	4	1473	4	KCNA5	12	5154784	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	2186977	5154784	128697111	63	229											
KCNH3	23416	hgsc.bcm.edu	37	12	49942732	49942732	+	Missense_Mutation	SNP	G	G	A	rs574111580	byFrequency	TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr12:49942732G>A	ENST00000257981.6	+	8	1504	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	415					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGTGGGCCGGAGGCCAGCT	0.701													G|||	2	0.000399361	0.0	0.0	5008	,	,		15321	0.002		0.0	False		,,,				2504	0.0															0													12	15	14					12																	49942732		2194	4291	6485	SO:0001583	missense	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1244G>A	chr12.hg19:g.49942732G>A	ENSP00000257981:p.Arg415Gln		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	hg19	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082658	0.36758	.	.	ENSG00000135519	ENST00000257981	D	0.98633	-5.04	4.53	0.652	0.17823	Ion transport (1);	0.609308	0.13925	N	0.353267	D	0.95014	0.8386	L	0.32530	0.975	0.21147	N	0.999771	B	0.02656	0.0	B	0.04013	0.001	D	0.87894	0.2686	10	0.18276	T	0.48	.	6.7337	0.23397	0.3979:0.0:0.6021:0.0	.	415	Q9ULD8	KCNH3_HUMAN	Q	415	ENSP00000257981:R415Q	ENSP00000257981:R415Q	R	+	2	0	KCNH3	48228999	0.005000	0.15991	0.164000	0.22755	0.642000	0.38348	-0.270000	0.08584	0.025000	0.15241	-0.140000	0.14226	CGG		0.701	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		A	49942732	G	A	49942732	3	1	3	1	0	0	0	0	1	0	0	0	8035	1116	39	1	1274	1	KCNH3	12	49942732	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	44787948	49942732	83909163	64	230											
ANKRD52	283373	hgsc.bcm.edu	37	12	56646601	56646601	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr12:56646601delG	ENST00000267116.7	-	12	1385	c.1264delC	c.(1264-1266)cttfs	p.L422fs		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	422										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTACGGCCAAGGTTGTCAGGT	0.532																																																0													60	62	62					12																	56646601		2092	4249	6341	SO:0001589	frameshift_variant	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1264delC	chr12.hg19:g.56646601delG	ENSP00000267116:p.Leu422fs		A6NE79|B1Q2K2	Frame_Shift_Del	DEL	ENST00000267116.7	hg19	CCDS44920.1																																																																																				0.532	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		-	56646601	G	-	56646601	7	5	3	1	0	1	0	1	0	0	0	0	678	1000	35	0	2034	0	ANKRD52	12	56646601	Frame_Shift_Del	DEL	G	TCGA-2Z-A9J2-01A-11D-A382-10	6703869	56646601	77205294	65	231											
KIAA1033	23325	hgsc.bcm.edu	37	12	105538550	105538550	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr12:105538550T>C	ENST00000332180.5	+	22	2321	c.2234T>C	c.(2233-2235)cTt>cCt	p.L745P		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						ACTGTAGCCCTTCATGACTGG	0.398																																																0													113	106	108					12																	105538550		1901	4120	6021	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2234T>C	chr12.hg19:g.105538550T>C	ENSP00000328062:p.Leu745Pro			Missense_Mutation	SNP	ENST00000332180.5	hg19	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549404	0.86127	.	.	ENSG00000136051	ENST00000332180	T	0.48201	0.82	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.64042	0.921;0.921	T	0.60510	-0.7249	10	0.39692	T	0.17	.	15.9674	0.79985	0.0:0.0:0.0:1.0	.	746;745	B7ZKT9;Q2M389	.;WASH7_HUMAN	P	745	ENSP00000328062:L745P	ENSP00000328062:L745P	L	+	2	0	KIAA1033	104062680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.994000	0.88315	2.170000	0.68504	0.477000	0.44152	CTT		0.398	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		C	105538550	T	C	105538550	3	2	3	1	0	0	0	0	1	0	0	0	8208	1609	56	3	2320	3	KIAA1033	12	105538550	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	48891949	105538550	28313345	66	232											
SPATA13	221178	hgsc.bcm.edu	37	13	24797769	24797769	+	Intron	SNP	G	G	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr13:24797769G>A	ENST00000382095.4	+	2	185				SPATA13_ENST00000424834.2_Silent_p.V234V|SPATA13_ENST00000382108.3_Silent_p.V234V|RP11-307N16.6_ENST00000382141.4_Silent_p.V234V	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGCCCGCCGTGTGTGAGATTC	0.602																																																0													52	52	52					13																	24797769		692	1591	2283	SO:0001627	intron_variant	221178			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-25846G>A	chr13.hg19:g.24797769G>A			A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	hg19	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	5.253	0.232192	0.09969	.	.	ENSG00000182957	ENST00000424834	.	.	.	4.5	-1.53	0.08611	.	1.228160	0.06596	N	0.752934	T	0.26919	0.0659	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32079	-0.9920	6	0.54805	T	0.06	.	1.1339	0.01751	0.2807:0.3551:0.1824:0.1817	.	.	.	.	M	272	.	ENSP00000371576:V272M	V	+	1	0	SPATA13	23695769	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.066000	0.03454	-0.522000	0.06417	-0.702000	0.03669	GTG		0.602	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		A	24797769	G	A	24797769	1	1	3	0	1	0	0	0	0	0	0	0	15005	1364	48	2		2	SPATA13	13	24797769	Intron	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10		24797769	90372109	67	233											
RTL1	388015	hgsc.bcm.edu	37	14	101347376	101347376	+	Silent	SNP	G	G	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr14:101347376G>A	ENST00000534062.1	-	1	3808	c.3750C>T	c.(3748-3750)gaC>gaT	p.D1250D	MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1250					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTTGCAGGCCGTCATGCAGGC	0.637																																																0													18	18	18					14																	101347376		1567	3579	5146	SO:0001819	synonymous_variant	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3750C>T	chr14.hg19:g.101347376G>A			E9PKS8	Silent	SNP	ENST00000534062.1	hg19	CCDS53910.1																																																																																				0.637	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		A	101347376	G	A	101347376	2	1	3	1	0	0	0	0	0	0	0	1	13730	1136	40	1		1	RTL1	14	101347376	Silent	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10		101347376	6002164	68	234											
MTA1	9112	hgsc.bcm.edu	37	14	105927224	105927224	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr14:105927224delG	ENST00000331320.7	+	10	1090	c.876delG	c.(874-876)gagfs	p.E292fs	MTA1_ENST00000435036.2_5'Flank|MTA1_ENST00000406191.1_Frame_Shift_Del_p.E292fs|MTA1_ENST00000405646.1_Frame_Shift_Del_p.E275fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	292	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CTGCATCAGAGGCCAACCTTT	0.572																																																0													104	104	104					14																	105927224		2203	4298	6501	SO:0001589	frameshift_variant	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.876delG	chr14.hg19:g.105927224delG	ENSP00000333633:p.Glu292fs		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Frame_Shift_Del	DEL	ENST00000331320.7	hg19	CCDS32169.1																																																																																				0.572	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			-	105927224	G	-	105927224	7	5	3	1	0	1	0	1	0	0	0	0	9910	991	35	0	914	0	MTA1	14	105927224	Frame_Shift_Del	DEL	G	TCGA-2Z-A9J2-01A-11D-A382-10	4579848	105927224	1422316	69	235											
DMXL2	23312	hgsc.bcm.edu	37	15	51799330	51799330	+	Splice_Site	SNP	C	C	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr15:51799330C>T	ENST00000251076.5	-	16	3052		c.e16+1		DMXL2_ENST00000449909.3_Splice_Site|DMXL2_ENST00000543779.2_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TAATTACTTACCTAAACATGC	0.279																																																0													63	60	61					15																	51799330		2195	4290	6485	SO:0001630	splice_region_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2764+1G>A	chr15.hg19:g.51799330C>T			B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	hg19	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497642	0.85069	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5259	0.87800	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49586622	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.440000	0.80464	2.210000	0.71456	0.484000	0.47621	.		0.279	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron	T	51799330	C	T	51799330	5	4	3	1	0	0	0	0	0	0	1	0	4597	521	18	2	6460	2	DMXL2	15	51799330	Splice_Site	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10		51799330	50732062	70	236											
CNOT1	23019	hgsc.bcm.edu	37	16	58583738	58583738	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr16:58583738A>T	ENST00000317147.5	-	25	3739	c.3407T>A	c.(3406-3408)aTg>aAg	p.M1136K	SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000569732.1_5'Flank|CNOT1_ENST00000441024.2_Missense_Mutation_p.M1136K|CNOT1_ENST00000569240.1_Missense_Mutation_p.M1131K|CNOT1_ENST00000245138.4_Missense_Mutation_p.M26K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1136	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GACTCTCTTCATAACCAGATA	0.408																																																0													166	155	159					16																	58583738		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3407T>A	chr16.hg19:g.58583738A>T	ENSP00000320949:p.Met1136Lys		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	hg19	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638031	0.87760	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.18016	2.24;2.24	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	L	0.31845	0.965	0.80722	D	1	D;P;P;P	0.56746	0.977;0.814;0.666;0.95	P;P;B;P	0.58391	0.696;0.838;0.212;0.687	T	0.01914	-1.1248	10	0.06236	T	0.91	.	15.4197	0.75000	1.0:0.0:0.0:0.0	.	26;1136;1136;1131	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	K	1136;565;26;1131;1136	ENSP00000320949:M1136K;ENSP00000413113:M1136K	ENSP00000245138:M26K	M	-	2	0	CNOT1	57141239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.050000	0.60909	0.402000	0.26972	ATG		0.408	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		T	58583738	A	T	58583738	3	4	3	1	0	0	0	0	1	0	0	0	3619	217	8	5	4045	5	CNOT1	16	58583738	Missense_Mutation	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10		58583738	31771015	71	237											
CNOT1	23019	hgsc.bcm.edu	37	16	58615281	58615281	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr16:58615281T>C	ENST00000317147.5	-	11	1515	c.1183A>G	c.(1183-1185)Ata>Gta	p.I395V	CNOT1_ENST00000441024.2_Missense_Mutation_p.I395V|CNOT1_ENST00000569240.1_Missense_Mutation_p.I395V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	395					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGTCTATATATGAGGTCTACT	0.413																																																0													116	106	109					16																	58615281		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1183A>G	chr16.hg19:g.58615281T>C	ENSP00000320949:p.Ile395Val		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	hg19	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.136887	0.37728	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.44482	0.94;0.92	5.67	5.67	0.87782	.	0.042158	0.85682	D	0.000000	T	0.23451	0.0567	N	0.12182	0.205	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.12604	-1.0541	9	.	.	.	0.0017	10.2862	0.43568	0.0:0.0733:0.0:0.9267	.	395;395;395	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	V	395	ENSP00000320949:I395V;ENSP00000413113:I395V	.	I	-	1	0	CNOT1	57172782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.097000	0.64542	2.158000	0.67659	0.533000	0.62120	ATA		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		C	58615281	T	C	58615281	3	2	3	1	0	0	0	0	1	0	0	0	3619	1464	51	3	6325	3	CNOT1	16	58615281	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	31543	58615281	31739472	72	238											
ABR	29	hgsc.bcm.edu	37	17	1082993	1082993	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr17:1082993G>C	ENST00000302538.5	-	1	175	c.29C>G	c.(28-30)cCg>cGg	p.P10R	AC016292.1_ENST00000438344.1_RNA|ABR_ENST00000544583.2_Intron	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	10					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGACAGGCGCGGCAGGCCCCG	0.711																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)											0													9	12	11					17																	1082993		2175	4265	6440	SO:0001583	missense	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.29C>G	chr17.hg19:g.1082993G>C	ENSP00000303909:p.Pro10Arg		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	hg19	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	g	16.44	3.124012	0.56613	.	.	ENSG00000159842	ENST00000302538	T	0.21734	1.99	3.83	3.83	0.44106	.	2.609730	0.02144	N	0.057429	T	0.15565	0.0375	N	0.19112	0.55	0.80722	D	1	P	0.36183	0.542	B	0.22601	0.04	T	0.20273	-1.0280	10	0.87932	D	0	.	11.091	0.48115	0.0:0.0:1.0:0.0	.	10	Q12979	ABR_HUMAN	R	10	ENSP00000303909:P10R	ENSP00000303909:P10R	P	-	2	0	ABR	1029743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.945000	0.63568	1.972000	0.57404	0.511000	0.50034	CCG		0.711	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			C	1082993	G	C	1082993	3	2	3	1	0	0	0	0	1	0	0	0	99	1116	39	4	2781	4	ABR	17	1082993	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10		1082993	80112217	73	239											
DNAH2	146754	hgsc.bcm.edu	37	17	7689641	7689641	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr17:7689641C>G	ENST00000572933.1	+	40	7789	c.6329C>G	c.(6328-6330)cCt>cGt	p.P2110R	DNAH2_ENST00000389173.2_Missense_Mutation_p.P2110R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2110	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCGGAGACCCTAACTTCAAC	0.607																																																0													39	39	39					17																	7689641		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6329C>G	chr17.hg19:g.7689641C>G	ENSP00000458355:p.Pro2110Arg		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757144	0.69648	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.25912	1.77	5.43	5.43	0.79202	ATPase, dynein-related, AAA domain (1);	0.129591	0.52532	D	0.000068	T	0.37679	0.1012	M	0.62723	1.935	0.80722	D	1	D	0.54397	0.966	P	0.54431	0.752	T	0.02596	-1.1136	10	0.17369	T	0.5	.	13.8398	0.63432	0.0:0.8467:0.1533:0.0	.	2110	Q9P225	DYH2_HUMAN	R	2110	ENSP00000373825:P2110R	ENSP00000353818:P2110R	P	+	2	0	DNAH2	7630366	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.930000	0.63462	2.827000	0.97445	0.650000	0.86243	CCT		0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		G	7689641	C	G	7689641	3	3	3	1	0	0	0	0	1	0	0	0	4604	681	24	4	6483	4	DNAH2	17	7689641	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	6606648	7689641	73505569	74	240											
NCOR1	9611	hgsc.bcm.edu	37	17	15961343	15961343	+	Missense_Mutation	SNP	G	G	A	rs376750361		TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr17:15961343G>A	ENST00000268712.3	-	39	6303	c.6046C>T	c.(6046-6048)Cac>Tac	p.H2016Y	NCOR1_ENST00000395857.3_Missense_Mutation_p.H600Y|NCOR1_ENST00000395851.1_Missense_Mutation_p.H1913Y	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2016	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTCGATAGTGATGTAATGGT	0.483																																																0													93	74	81					17																	15961343		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6046C>T	chr17.hg19:g.15961343G>A	ENSP00000268712:p.His2016Tyr		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	0.872	-0.731627	0.03135	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.42513	0.97;1.52;0.98	5.87	5.87	0.94306	.	0.160125	0.56097	D	0.000034	T	0.48943	0.1528	L	0.46157	1.445	0.40181	D	0.977297	P;P;B;D;P;P	0.55172	0.572;0.893;0.378;0.97;0.71;0.773	B;B;B;P;B;B	0.48901	0.116;0.242;0.04;0.594;0.169;0.34	T	0.50600	-0.8809	10	0.72032	D	0.01	-10.6861	19.1839	0.93635	0.0:0.0:1.0:0.0	.	826;1920;2016;1913;536;30	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;.;NCOR1_HUMAN;.;.;.	Y	2016;1913;1920;600	ENSP00000268712:H2016Y;ENSP00000379192:H1913Y;ENSP00000379198:H600Y	ENSP00000268712:H2016Y	H	-	1	0	NCOR1	15902068	1.000000	0.71417	0.993000	0.49108	0.083000	0.17756	6.790000	0.75115	2.780000	0.95670	0.655000	0.94253	CAC		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		A	15961343	G	A	15961343	3	1	3	1	0	0	0	0	1	0	0	0	10237	1290	45	2	1308	2	NCOR1	17	15961343	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	8271702	15961343	65233867	75	241											
CCDC103	388389	hgsc.bcm.edu	37	17	42979927	42979927	+	Silent	SNP	G	G	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr17:42979927G>A	ENST00000417826.2	+	4	566	c.471G>A	c.(469-471)ccG>ccA	p.P157P	AC015936.3_ENST00000441312.1_RNA|FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Silent_p.P157P|EFTUD2_ENST00000426333.2_5'Flank|FAM187A_ENST00000331733.4_5'UTR	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	157					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				ACGTGGGGCCGGCTGACCGGG	0.642																																																0													56	63	61					17																	42979927		2203	4300	6503	SO:0001819	synonymous_variant	388389			AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.471G>A	chr17.hg19:g.42979927G>A			A8K145|B8ZZU0	Silent	SNP	ENST00000417826.2	hg19	CCDS11490.1																																																																																				0.642	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334578.1	NM_213607		A	42979927	G	A	42979927	2	1	3	1	0	0	0	0	0	0	0	1	2740	1103	39	1		1	CCDC103	17	42979927	Silent	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	27018584	42979927	38215283	76	242											
HELZ	9931	hgsc.bcm.edu	37	17	65144699	65144700	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr17:65144699_65144700insT	ENST00000358691.5	-	20	2772_2773	c.2606_2607insA	c.(2605-2607)catfs	p.H869fs	HELZ_ENST00000580168.1_Frame_Shift_Ins_p.H870fs	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	869						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGATAGCTTCATGGGAGCGGTA	0.49																																																0																																										SO:0001589	frameshift_variant	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2607dupA	chr17.hg19:g.65144700_65144700dupT	ENSP00000351524:p.His869fs		I6L9H4	Frame_Shift_Ins	INS	ENST00000358691.5	hg19	CCDS42374.1																																																																																				0.49	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		T	65144700	-	T	65144699	7	5	3	1	0	1	1	0	0	0	0	0	7051	214	8	0	3277	0	HELZ	17	65144699	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J2-01A-11D-A382-10	22164772	65144699	16050511	77	243											
MIDN	90007	hgsc.bcm.edu	37	19	1255611	1255611	+	Silent	SNP	T	T	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr19:1255611T>C	ENST00000591446.2	+	6	1456	c.1047T>C	c.(1045-1047)acT>acC	p.T349T	MIDN_ENST00000300952.2_Silent_p.T349T			Q504T8	MIDN_HUMAN	midnolin	349						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCAGAACTACCTCCTGCG	0.726																																																0													19	26	24					19																	1255611		2194	4287	6481	SO:0001819	synonymous_variant	90007			AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1047T>C	chr19.hg19:g.1255611T>C			Q96BW8	Silent	SNP	ENST00000591446.2	hg19	CCDS32864.1																																																																																				0.726	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			C	1255611	T	C	1255611	2	2	3	1	0	0	0	0	0	0	0	1	9581	1509	53	3		3	MIDN	19	1255611	Silent	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10		1255611	57873372	78	244											
ZSCAN5B	342933	hgsc.bcm.edu	37	19	56701355	56701355	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr19:56701355delG	ENST00000586855.2	-	5	1642	c.1329delC	c.(1327-1329)tacfs	p.Y443fs	ZSCAN5B_ENST00000358992.3_Frame_Shift_Del_p.Y443fs			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	443					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTTGCTGCAGTATTTACATT	0.547																																																0													89	90	90					19																	56701355		2075	4230	6305	SO:0001589	frameshift_variant	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1329delC	chr19.hg19:g.56701355delG	ENSP00000466072:p.Tyr443fs			Frame_Shift_Del	DEL	ENST00000586855.2	hg19	CCDS46203.1																																																																																				0.547	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		-	56701355	G	-	56701355	7	5	3	1	0	1	0	1	0	0	0	0	18244	1024	36	0	162	0	ZSCAN5B	19	56701355	Frame_Shift_Del	DEL	G	TCGA-2Z-A9J2-01A-11D-A382-10	55445744	56701355	2427628	79	245											
SIRPA	140885	hgsc.bcm.edu	37	20	1903069	1903069	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr20:1903069G>C	ENST00000358771.4	+	4	1017	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	SIRPA_ENST00000356025.3_Missense_Mutation_p.E289Q|SIRPA_ENST00000400068.3_Missense_Mutation_p.E289Q	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	289	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GACCTGGTTGGAGAATGGAAA	0.537																																					GBM(155;1668 1920 5945 42733 48121)											0													147	127	134					20																	1903069		2203	4300	6503	SO:0001583	missense	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.865G>C	chr20.hg19:g.1903069G>C	ENSP00000351621:p.Glu289Gln		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	hg19	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812345	0.70912	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.00608	6.25;6.25;6.25	5.35	5.35	0.76521	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000013	T	0.02119	0.0066	L	0.59967	1.855	0.46798	D	0.999207	P;D;P	0.76494	0.926;0.999;0.912	P;D;P	0.72982	0.596;0.979;0.691	T	0.62282	-0.6887	10	0.59425	D	0.04	.	14.7506	0.69522	0.0:0.0:1.0:0.0	.	269;289;289	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	Q	289	ENSP00000382941:E289Q;ENSP00000348307:E289Q;ENSP00000351621:E289Q	ENSP00000348307:E289Q	E	+	1	0	SIRPA	1851069	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	5.119000	0.64679	2.941000	0.99782	0.655000	0.94253	GAG		0.537	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		C	1903069	G	C	1903069	3	2	3	1	0	0	0	0	1	0	0	0	14338	1175	41	4	879	4	SIRPA	20	1903069	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10		1903069	61122451	80	246											
RBM12	10137	hgsc.bcm.edu	37	20	34240509	34240509	+	Silent	SNP	A	A	G			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr20:34240509A>G	ENST00000374114.3	-	3	2999	c.2736T>C	c.(2734-2736)gcT>gcC	p.A912A	CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Silent_p.A912A|RBM12_ENST00000374104.3_Silent_p.A912A|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	912	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAATGACAGCAGCTGTGGCTT	0.403																																																0													87	85	86					20																	34240509		2203	4300	6503	SO:0001819	synonymous_variant	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2736T>C	chr20.hg19:g.34240509A>G			B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	hg19	CCDS13261.1																																																																																				0.403	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		G	34240509	A	G	34240509	2	3	3	1	0	0	0	0	0	0	0	1	13119	175	7	3		3	RBM12	20	34240509	Silent	SNP	A	TCGA-2Z-A9J2-01A-11D-A382-10	32337440	34240509	28785011	81	247											
BCR	613	hgsc.bcm.edu	37	22	23524065	23524065	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr22:23524065G>T	ENST00000305877.8	+	1	1669	c.918G>T	c.(916-918)gaG>gaT	p.E306D	BCR_ENST00000359540.3_Missense_Mutation_p.E306D|BCR_ENST00000398512.5_Missense_Mutation_p.E306D	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	306	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CTGAGCAGGAGAAGCGCCTTA	0.642			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													26	29	28					22																	23524065		2203	4300	6503	SO:0001583	missense	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.918G>T	chr22.hg19:g.23524065G>T	ENSP00000303507:p.Glu306Asp		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	hg19	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878350	0.33162	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.39787	1.88;1.89;1.06	4.67	3.59	0.41128	.	0.062995	0.64402	D	0.000007	T	0.26882	0.0658	N	0.25647	0.755	0.40319	D	0.978809	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.09164	-1.0687	10	0.33141	T	0.24	.	8.5781	0.33612	0.0903:0.1551:0.7547:0.0	.	306;306	P11274-2;P11274	.;BCR_HUMAN	D	306	ENSP00000303507:E306D;ENSP00000352535:E306D;ENSP00000381524:E306D	ENSP00000290956:E306D	E	+	3	2	BCR	21854065	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.473000	0.35387	2.315000	0.78130	0.557000	0.71058	GAG		0.642	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		T	23524065	G	T	23524065	3	4	3	1	0	0	0	0	1	0	0	0	1388	933	33	4	920	4	BCR	22	23524065	Missense_Mutation	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10		23524065	27780501	82	248											
UPB1	51733	hgsc.bcm.edu	37	22	24896185	24896185	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr22:24896185T>C	ENST00000326010.5	+	2	559	c.215T>C	c.(214-216)gTg>gCg	p.V72A	UPB1_ENST00000382760.2_Missense_Mutation_p.V72A|UPB1_ENST00000413389.2_Intron	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	72	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CCCCGCATTGTGCACGTGGGG	0.547																																																0													79	82	81					22																	24896185		2203	4300	6503	SO:0001583	missense	51733			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.215T>C	chr22.hg19:g.24896185T>C	ENSP00000324343:p.Val72Ala		A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	hg19	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159972	0.38119	.	.	ENSG00000100024	ENST00000326010;ENST00000382760;ENST00000426507	D;T	0.86769	-2.17;-0.97	4.66	3.62	0.41486	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.509443	0.20750	N	0.086361	D	0.94450	0.8214	H	0.97587	4.035	0.80722	D	1	P	0.52316	0.952	P	0.59357	0.856	D	0.93657	0.6978	10	0.87932	D	0	-16.6106	8.6137	0.33817	0.0:0.0941:0.0:0.9059	.	72	Q9UBR1	BUP1_HUMAN	A	72	ENSP00000324343:V72A;ENSP00000372208:V72A	ENSP00000324343:V72A	V	+	2	0	UPB1	23226185	1.000000	0.71417	0.100000	0.21137	0.023000	0.10783	3.159000	0.50731	0.738000	0.32606	-0.473000	0.04963	GTG		0.547	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			C	24896185	T	C	24896185	3	2	3	1	0	0	0	0	1	0	0	0	17007	1696	59	3	221	3	UPB1	22	24896185	Missense_Mutation	SNP	T	TCGA-2Z-A9J2-01A-11D-A382-10	1372120	24896185	26408381	83	249											
RRP7A	27341	hgsc.bcm.edu	37	22	42912116	42912116	+	Silent	SNP	G	G	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr22:42912116G>A	ENST00000323013.6	-	3	258	c.243C>T	c.(241-243)acC>acT	p.T81T		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	81	RRM.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CGAGGCCACAGGTGGACAGGA	0.617																																																0													46	44	45					22																	42912116		2203	4300	6503	SO:0001819	synonymous_variant	27341			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.243C>T	chr22.hg19:g.42912116G>A			A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	ENST00000323013.6	hg19	CCDS14036.1																																																																																				0.617	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		A	42912116	G	A	42912116	2	1	3	1	0	0	0	0	0	0	0	1	13695	987	35	2		2	RRP7A	22	42912116	Silent	SNP	G	TCGA-2Z-A9J2-01A-11D-A382-10	18015931	42912116	8392450	84	250											
PANX2	56666	hgsc.bcm.edu	37	22	50617455	50617455	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chr22:50617455C>A	ENST00000395842.2	+	3	1783	c.1783C>A	c.(1783-1785)Ccc>Acc	p.P595T	PANX2_ENST00000159647.5_Missense_Mutation_p.P595T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	595					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCGCTCACCTCCCGCCGCCCC	0.692																																																0													24	23	23					22																	50617455		2186	4299	6485	SO:0001583	missense	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1783C>A	chr22.hg19:g.50617455C>A	ENSP00000379183:p.Pro595Thr		B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	hg19	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	7.891	0.732382	0.15507	.	.	ENSG00000073150	ENST00000159647;ENST00000395842;ENST00000401643	T;T	0.21932	1.98;2.0	3.71	1.26	0.21427	.	0.243973	0.25450	N	0.030597	T	0.08758	0.0217	N	0.14661	0.345	0.26828	N	0.968647	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.22103	-1.0226	10	0.21014	T	0.42	-2.0275	3.3091	0.07010	0.2806:0.4825:0.1443:0.0926	.	595;595	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	595;595;272	ENSP00000159647:P595T;ENSP00000379183:P595T	ENSP00000159647:P595T	P	+	1	0	PANX2	48959582	0.000000	0.05858	0.968000	0.41197	0.590000	0.36582	0.686000	0.25392	0.860000	0.35481	0.305000	0.20034	CCC		0.692	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		A	50617455	C	A	50617455	3	1	3	1	0	0	0	0	1	0	0	0	11423	855	30	4	1793	4	PANX2	22	50617455	Missense_Mutation	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	7705339	50617455	687111	85	251											
FAAH2	158584	hgsc.bcm.edu	37	X	57475117	57475117	+	Silent	SNP	C	C	G			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chrX:57475117C>G	ENST00000374900.4	+	10	1509	c.1389C>G	c.(1387-1389)gtC>gtG	p.V463V	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	463						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGCATCATGTCCCTCTAACAC	0.423										HNSCC(52;0.14)																																						0													228	164	185					X																	57475117		2203	4300	6503	SO:0001819	synonymous_variant	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.1389C>G	chrX.hg19:g.57475117C>G			Q86VT2|Q96N98	Silent	SNP	ENST00000374900.4	hg19	CCDS14375.1																																																																																				0.423	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		G	57475117	C	G	57475117	2	3	3	1	0	0	0	0	0	0	0	1	5356	842	30	4		4	FAAH2	23	57475117	Silent	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10		57475117	97795443	86	252											
ZCCHC5	203430	hgsc.bcm.edu	37	X	77913324	77913324	+	Silent	SNP	C	C	T			TCGA-2Z-A9J2-01A-11D-A382-10	TCGA-2Z-A9J2-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b136f8d-949c-4f48-9ca6-f9bb90a10bb3	2d763603-a0f5-4dbe-a146-ef518556d752	g.chrX:77913324C>T	ENST00000321110.1	-	2	889	c.594G>A	c.(592-594)caG>caA	p.Q198Q		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	198							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTAGGAATTCCTGGGCATTTG	0.547																																																0													38	38	38					X																	77913324		2203	4300	6503	SO:0001819	synonymous_variant	203430			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.594G>A	chrX.hg19:g.77913324C>T			B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	hg19	CCDS14440.1																																																																																				0.547	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		T	77913324	C	T	77913324	2	4	3	1	0	0	0	0	0	0	0	1	17596	680	24	2		2	ZCCHC5	23	77913324	Silent	SNP	C	TCGA-2Z-A9J2-01A-11D-A382-10	20438207	77913324	77357236	87	253											
KIF1B	23095	hgsc.bcm.edu	37	1	10338126	10338126	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:10338126G>T	ENST00000377086.1	+	13	1322	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	KIF1B_ENST00000377081.1_Nonsense_Mutation_p.E374*|KIF1B_ENST00000263934.6_Nonsense_Mutation_p.E368*|KIF1B_ENST00000377083.1_Nonsense_Mutation_p.E368*|KIF1B_ENST00000377093.4_Nonsense_Mutation_p.E368*			O60333	KIF1B_HUMAN	kinesin family member 1B	374					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGAATTAAAGGAGGAGGTGAC	0.398																																																0													109	96	100					1																	10338126		2203	4300	6503	SO:0001587	stop_gained	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1120G>T	chr1.hg19:g.10338126G>T	ENSP00000366290:p.Glu374*		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Nonsense_Mutation	SNP	ENST00000377086.1	hg19		.	.	.	.	.	.	.	.	.	.	G	39	7.518828	0.98332	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	.	.	.	5.25	5.25	0.73442	.	0.050900	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2117	0.93758	0.0:0.0:1.0:0.0	.	.	.	.	X	374;368;368;374;368;374	.	ENSP00000263934:E368X	E	+	1	0	KIF1B	10260713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.611000	0.88343	0.591000	0.81541	GAG		0.398	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10338126	G	T	10338126	4	4	4	1	0	0	0	0	0	1	0	0	8286	1175	41	4	1144	4	KIF1B	1	10338126	Nonsense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10		10338126	238912495	1	254											
LDLRAP1	26119	hgsc.bcm.edu	37	1	25889207	25889207	+	Splice_Site	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:25889207G>A	ENST00000374338.4	+	5	651	c.532G>A	c.(532-534)Gag>Aag	p.E178K	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	178	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCAAGGAAGGTGAGACTTT	0.572																																																0													133	119	124					1																	25889207		2203	4300	6503	SO:0001630	splice_region_variant	26119			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.532+1G>A	chr1.hg19:g.25889207G>A			A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	hg19	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226311	0.58668	.	.	ENSG00000157978	ENST00000374338	T	0.64991	-0.13	5.56	5.56	0.83823	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.265161	0.43579	D	0.000547	T	0.57460	0.2055	M	0.67953	2.075	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.51926	-0.8643	10	0.15499	T	0.54	-18.0094	11.9152	0.52761	0.0794:0.0:0.9206:0.0	.	178	Q5SW96	ARH_HUMAN	K	178	ENSP00000363458:E178K	ENSP00000363458:E178K	E	+	1	0	LDLRAP1	25761794	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.534000	0.82004	2.620000	0.88729	0.555000	0.69702	GAG		0.572	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627	Missense_Mutation	A	25889207	G	A	25889207	5	1	4	1	0	0	0	0	0	0	1	0	8710	1014	35	2	550	2	LDLRAP1	1	25889207	Splice_Site	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	15551081	25889207	223361414	2	255											
RNF19B	127544	hgsc.bcm.edu	37	1	33402549	33402549	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:33402549C>G	ENST00000373456.7	-	9	2056	c.2057G>C	c.(2056-2058)gGc>gCc	p.G686A	RNF19B_ENST00000235150.4_Missense_Mutation_p.G685A|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	686					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGGGGGGAGCCACACTCATC	0.612																																																0													91	91	91					1																	33402549		2203	4300	6503	SO:0001583	missense	127544			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.2057G>C	chr1.hg19:g.33402549C>G	ENSP00000362555:p.Gly686Ala		B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	hg19	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077464	0.36662	.	.	ENSG00000116514	ENST00000373456;ENST00000235150	T;T	0.30448	1.53;1.54	5.12	5.12	0.69794	.	0.160327	0.56097	D	0.000036	T	0.19127	0.0459	N	0.19112	0.55	0.35754	D	0.819621	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.12426	-1.0548	10	0.36615	T	0.2	.	9.4831	0.38913	0.0:0.7744:0.1461:0.0795	.	685;686	G3XA82;Q6ZMZ0	.;RN19B_HUMAN	A	686;685	ENSP00000362555:G686A;ENSP00000235150:G685A	ENSP00000235150:G685A	G	-	2	0	RNF19B	33175136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.052000	0.49893	2.565000	0.86533	0.585000	0.79938	GGC		0.612	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		G	33402549	C	G	33402549	3	3	4	1	0	0	0	0	1	0	0	0	13477	739	26	4	145	4	RNF19B	1	33402549	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	7513342	33402549	215848072	3	256											
EPHA10	284656	hgsc.bcm.edu	37	1	38192854	38192854	+	Silent	SNP	G	G	C	rs544755981		TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:38192854G>C	ENST00000373048.4	-	8	1691	c.1692C>G	c.(1690-1692)ccC>ccG	p.P564P	EPHA10_ENST00000427468.2_Silent_p.P564P|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.P59P|EPHA10_ENST00000540011.1_Silent_p.P59P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	564					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGACAATGGCGGGGCTCTGGT	0.647																																																0													48	63	58					1																	38192854		2041	4187	6228	SO:0001819	synonymous_variant	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1692C>G	chr1.hg19:g.38192854G>C			A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	hg19	CCDS41305.1																																																																																				0.647	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		C	38192854	G	C	38192854	2	2	4	1	0	0	0	0	0	0	0	1	5168	1103	39	4		4	EPHA10	1	38192854	Silent	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	4790305	38192854	211057767	4	257											
PDE4B	5142	hgsc.bcm.edu	37	1	66798100	66798100	+	Intron	SNP	A	A	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:66798100A>C	ENST00000329654.4	+	8	821				PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000371045.5_Missense_Mutation_p.S10R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CACCTTCAGTAGCACCGGAAT	0.547																																																0													83	83	83					1																	66798100		2203	4300	6503	SO:0001627	intron_variant	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.635-91A>C	chr1.hg19:g.66798100A>C			A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	hg19	CCDS632.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377873	0.42105	.	.	ENSG00000184588	ENST00000371045	T	0.65178	-0.14	5.27	4.15	0.48705	.	.	.	.	.	T	0.17365	0.0417	N	0.03608	-0.345	0.80722	D	1	B	0.23058	0.079	B	0.18871	0.023	T	0.08046	-1.0741	9	0.20519	T	0.43	.	9.4851	0.38924	0.9147:0.0:0.0853:0.0	.	52	Q13945	.	R	10	ENSP00000360084:S10R	ENSP00000360084:S10R	S	+	1	0	PDE4B	66570688	0.424000	0.25490	0.978000	0.43139	0.741000	0.42261	1.394000	0.34509	1.049000	0.40321	0.459000	0.35465	AGC		0.547	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		C	66798100	A	C	66798100	1	2	4	0	1	0	0	0	0	0	0	0	11642	420	15	5		5	PDE4B	1	66798100	Intron	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	28605246	66798100	182452521	5	258											
BCL10	8915	hgsc.bcm.edu	37	1	85741991	85741991	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:85741991T>G	ENST00000370580.1	-	1	782	c.45A>C	c.(43-45)gaA>gaC	p.E15D	RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	15	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CCTTCTTCACTTCAGTGAGGT	0.697			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)		Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	0													71	65	67					1																	85741991		2203	4300	6503	SO:0001583	missense	8915			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"CARD-like apoptotic protein", "CARD-containing apoptotic signaling protein", "CARD containing molecule enhancing NF-kB", "caspase-recruiting domain-containing protein", "CARD-containing proapoptotic protein"	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.45A>C	chr1.hg19:g.85741991T>G	ENSP00000359612:p.Glu15Asp		Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	hg19	CCDS704.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.882269	0.51908	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	T	0.51071	0.72	5.23	4.11	0.48088	DEATH-like (2);Caspase Recruitment (1);	0.324282	0.35291	N	0.003301	T	0.08670	0.0215	N	0.04508	-0.205	0.36773	D	0.883901	B	0.02656	0.0	B	0.04013	0.001	T	0.12268	-1.0554	10	0.22706	T	0.39	-20.4797	5.3938	0.16259	0.0:0.1576:0.1505:0.6919	.	15	O95999	BCL10_HUMAN	D	15	ENSP00000359612:E15D	ENSP00000271015:E15D	E	-	3	2	BCL10	85514579	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.650000	0.24858	1.027000	0.39758	0.379000	0.24179	GAA		0.697	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		G	85741991	T	G	85741991	3	3	4	1	0	0	0	0	1	0	0	0	1362	1606	56	5	668	5	BCL10	1	85741991	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	18943891	85741991	163508630	6	259											
GBP3	2635	hgsc.bcm.edu	37	1	89473418	89473418	+	Silent	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:89473418G>A	ENST00000370481.4	-	11	1997	c.1777C>T	c.(1777-1779)Cta>Tta	p.L593L		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TAGATCTTTAGCTTATGCGAC	0.338																																																0													261	254	256					1																	89473418		2203	4300	6503	SO:0001819	synonymous_variant	2635			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1777C>T	chr1.hg19:g.89473418G>A			A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000370481.4	hg19	CCDS717.2																																																																																				0.338	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		A	89473418	G	A	89473418	2	1	4	1	0	0	0	0	0	0	0	1	6277	962	34	2		2	GBP3	1	89473418	Silent	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	3731427	89473418	159777203	7	260											
ZNF644	84146	hgsc.bcm.edu	37	1	91404516	91404516	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:91404516T>G	ENST00000370440.1	-	3	2612	c.2395A>C	c.(2395-2397)Agc>Cgc	p.S799R	ZNF644_ENST00000337393.5_Missense_Mutation_p.S799R|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	799					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTTTGAAGCTTTCAGGCCTT	0.378																																																0													68	71	70					1																	91404516		2203	4300	6503	SO:0001583	missense	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2395A>C	chr1.hg19:g.91404516T>G	ENSP00000359469:p.Ser799Arg		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	hg19	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	7.752	0.703462	0.15172	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.47528	0.84;0.84	5.94	0.94	0.19513	.	1.368040	0.03945	N	0.287532	T	0.10594	0.0259	N	0.08118	0	0.26551	N	0.973916	B	0.02656	0.0	B	0.01281	0.0	T	0.13308	-1.0514	10	0.24483	T	0.36	2.2487	8.3928	0.32540	0.0:0.6073:0.0:0.3927	.	799	Q9H582	ZN644_HUMAN	R	799;799;371	ENSP00000359469:S799R;ENSP00000337008:S799R	ENSP00000337008:S799R	S	-	1	0	ZNF644	91177104	0.847000	0.29606	0.982000	0.44146	0.624000	0.37722	1.199000	0.32235	0.154000	0.19237	0.482000	0.46254	AGC		0.378	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		G	91404516	T	G	91404516	3	3	4	1	0	0	0	0	1	0	0	0	18065	1609	56	5	1604	5	ZNF644	1	91404516	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	1931098	91404516	157846105	8	261											
DCLRE1B	64858	hgsc.bcm.edu	37	1	114450642	114450643	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:114450642_114450643insA	ENST00000369563.3	+	3	813_814	c.367_368insA	c.(367-369)tacfs	p.Y123fs	AP4B1_ENST00000256658.4_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	123					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATTTTCGATACACACCATCC	0.47								Other identified genes with known or suspected DNA repair function																																								0																																										SO:0001589	frameshift_variant	64858			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.368dupA	chr1.hg19:g.114450643_114450643dupA	ENSP00000358576:p.Tyr123fs		Q9H9E5	Frame_Shift_Ins	INS	ENST00000369563.3	hg19	CCDS866.1																																																																																				0.47	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		A	114450643	-	A	114450642	7	5	4	1	0	1	1	0	0	0	0	0	4297	1406	49	0	377	0	DCLRE1B	1	114450642	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J3-01A-12D-A382-10	23046126	114450642	134799979	9	262											
SPTA1	6708	hgsc.bcm.edu	37	1	158622405	158622405	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:158622405C>T	ENST00000368147.4	-	23	3407	c.3227G>A	c.(3226-3228)cGt>cAt	p.R1076H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1076					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAATAGACGACGTCTGCGTTC	0.438																																																0													110	102	104					1																	158622405		1890	4110	6000	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3227G>A	chr1.hg19:g.158622405C>T	ENSP00000357129:p.Arg1076His		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872785	0.33069	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.67523	-0.27;-0.27	5.3	4.39	0.52855	.	0.000000	0.32703	N	0.005759	T	0.41949	0.1181	L	0.54323	1.7	0.37353	D	0.910892	P	0.43542	0.81	B	0.34722	0.188	T	0.51764	-0.8664	10	0.52906	T	0.07	.	9.127	0.36821	0.0:0.8351:0.0:0.1649	.	1076	P02549	SPTA1_HUMAN	H	1076	ENSP00000357130:R1076H;ENSP00000357129:R1076H	ENSP00000357129:R1076H	R	-	2	0	SPTA1	156889029	1.000000	0.71417	0.236000	0.24074	0.013000	0.08279	3.123000	0.50453	1.488000	0.48433	-0.136000	0.14681	CGT		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158622405	C	T	158622405	3	4	4	1	0	0	0	0	1	0	0	0	15121	536	19	1	4152	1	SPTA1	1	158622405	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	44171763	158622405	90628216	10	263											
NCSTN	23385	hgsc.bcm.edu	37	1	160326855	160326855	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:160326855G>C	ENST00000294785.5	+	16	1944	c.1819G>C	c.(1819-1821)Ggc>Cgc	p.G607R	NCSTN_ENST00000368063.1_Missense_Mutation_p.G587R|NCSTN_ENST00000368065.4_Missense_Mutation_p.G349R|NCSTN_ENST00000535857.1_Missense_Mutation_p.G469R|NCSTN_ENST00000392212.4_Missense_Mutation_p.G587R	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	607					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGGGTCCAGGGCCCTTTGCA	0.552																																																0													200	168	179					1																	160326855		2203	4300	6503	SO:0001583	missense	23385			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1819G>C	chr1.hg19:g.160326855G>C	ENSP00000294785:p.Gly607Arg		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	hg19	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946235	0.92593	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000392212;ENST00000368065	T;T;T;T	0.81163	-1.46;-1.45;-0.53;-1.45	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.87585	0.6214	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.87185	0.2230	10	0.51188	T	0.08	-23.4934	18.0578	0.89368	0.0:0.0:1.0:0.0	.	469;587;607	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	R	607;587;469;587;349	ENSP00000294785:G607R;ENSP00000357042:G587R;ENSP00000442605:G469R;ENSP00000376047:G587R	ENSP00000294785:G607R	G	+	1	0	NCSTN	158593479	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.756000	0.91651	2.606000	0.88127	0.650000	0.86243	GGC		0.552	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		C	160326855	G	C	160326855	3	2	4	1	0	0	0	0	1	0	0	0	10243	1232	43	4	1881	4	NCSTN	1	160326855	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	1704450	160326855	88923766	11	264											
IGFN1	91156	hgsc.bcm.edu	37	1	201174369	201174369	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:201174369delC	ENST00000335211.4	+	11	1206	c.1076delC	c.(1075-1077)tccfs	p.S359fs	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Frame_Shift_Del_p.S359fs	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	359	Ig-like 2.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTGTATGTGTCCCCTGACGGG	0.617																																																0													33	32	32					1																	201174369		692	1591	2283	SO:0001589	frameshift_variant	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.1076delC	chr1.hg19:g.201174369delC	ENSP00000334714:p.Ser359fs		F8WAI1|Q9NT72	Frame_Shift_Del	DEL	ENST00000335211.4	hg19	CCDS53455.1																																																																																				0.617	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		-	201174369	C	-	201174369	7	5	4	1	0	1	0	1	0	0	0	0	7592	855	30	0	1114	0	IGFN1	1	201174369	Frame_Shift_Del	DEL	C	TCGA-2Z-A9J3-01A-12D-A382-10	40847514	201174369	48076252	12	265											
RPS6KC1	26750	hgsc.bcm.edu	37	1	213302993	213302993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:213302993delC	ENST00000366960.3	+	6	746	c.596delC	c.(595-597)tcgfs	p.S199fs	RPS6KC1_ENST00000366959.3_Frame_Shift_Del_p.S187fs|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Frame_Shift_Del_p.S18fs|RPS6KC1_ENST00000543354.1_Intron	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	199					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATCTTTCTTCGGATTCTTCA	0.433																																																0													96	95	96					1																	213302993		2203	4300	6503	SO:0001589	frameshift_variant	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.596delC	chr1.hg19:g.213302993delC	ENSP00000355927:p.Ser199fs		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Frame_Shift_Del	DEL	ENST00000366960.3	hg19	CCDS1513.1																																																																																				0.433	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		-	213302993	C	-	213302993	7	5	4	1	0	1	0	1	0	0	0	0	13664	893	31	0	618	0	RPS6KC1	1	213302993	Frame_Shift_Del	DEL	C	TCGA-2Z-A9J3-01A-12D-A382-10	12128624	213302993	35947628	13	266											
AGT	183	hgsc.bcm.edu	37	1	230846200	230846200	+	Missense_Mutation	SNP	C	C	T	rs559327874		TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:230846200C>T	ENST00000366667.4	-	2	611	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	133					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGGGAGAGGACGGTGGCCCCA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		20155	0.0		0.0	False		,,,				2504	0.001															0													99	99	99					1																	230846200		2203	4300	6503	SO:0001583	missense	183			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"Serine (or cysteine) peptidase inhibitors", "Endogenous ligands"	333	protein-coding gene	gene with protein product	"alpha-1 antiproteinase, antitrypsin"	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.397G>A	chr1.hg19:g.230846200C>T	ENSP00000355627:p.Val133Ile		Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	hg19	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	C	0.057	-1.234253	0.01505	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.84370	-1.84	5.09	-7.39	0.01402	Serpin domain (3);	0.452988	0.23554	N	0.046932	T	0.56232	0.1971	N	0.08118	0	0.09310	N	1	B;B;B	0.12630	0.002;0.006;0.002	B;B;B	0.11329	0.001;0.006;0.001	T	0.59915	-0.7364	10	0.07813	T	0.8	.	5.113	0.14819	0.0807:0.2591:0.1175:0.5427	.	133;133;133	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	I	133	ENSP00000355627:V133I	ENSP00000355627:V133I	V	-	1	0	AGT	228912823	0.013000	0.17824	0.000000	0.03702	0.003000	0.03518	-0.338000	0.07842	-0.993000	0.03467	-1.247000	0.01520	GTC		0.592	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		T	230846200	C	T	230846200	3	4	4	1	0	0	0	0	1	0	0	0	399	536	19	1	1076	1	AGT	1	230846200	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	17543207	230846200	18404421	14	267											
KIF26B	55083	hgsc.bcm.edu	37	1	245319611	245319611	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr1:245319611C>T	ENST00000407071.2	+	2	531	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	31					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCCACCAAGCCCGCAGCGCC	0.701																																																0													5	7	7					1																	245319611		1523	3110	4633	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.91C>T	chr1.hg19:g.245319611C>T	ENSP00000385545:p.Pro31Ser		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	hg19	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236563	0.22711	.	.	ENSG00000162849	ENST00000407071	T	0.74315	-0.83	4.77	3.77	0.43336	.	.	.	.	.	T	0.47911	0.1471	N	0.04508	-0.205	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.42068	-0.9473	9	0.15499	T	0.54	.	8.2256	0.31566	0.193:0.715:0.0:0.0919	.	31	Q2KJY2	KI26B_HUMAN	S	31	ENSP00000385545:P31S	ENSP00000385545:P31S	P	+	1	0	KIF26B	243386234	0.999000	0.42202	0.998000	0.56505	0.966000	0.64601	0.589000	0.23939	2.177000	0.69029	0.561000	0.74099	CCC		0.701	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		T	245319611	C	T	245319611	3	4	4	1	0	0	0	0	1	0	0	0	8297	739	26	2	97	2	KIF26B	1	245319611	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	14473411	245319611	3931010	15	268											
LPIN1	23175	hgsc.bcm.edu	37	2	11924034	11924034	+	Silent	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:11924034G>A	ENST00000256720.2	+	8	1329	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	LPIN1_ENST00000396098.1_Silent_p.L454L|LPIN1_ENST00000396099.1_Silent_p.L454L|LPIN1_ENST00000449576.2_Silent_p.L497L|LPIN1_ENST00000425416.2_Silent_p.L418L|LPIN1_ENST00000396097.1_Silent_p.L142L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	412					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGGCGGCCCTGTATTTTCCCA	0.423																																																0													169	173	172					2																	11924034		2203	4300	6503	SO:0001819	synonymous_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1236G>A	chr2.hg19:g.11924034G>A			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	hg19	CCDS1682.1																																																																																				0.423	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		A	11924034	G	A	11924034	2	1	4	1	0	0	0	0	0	0	0	1	8920	1364	48	2		2	LPIN1	2	11924034	Silent	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10		11924034	231275339	16	269											
NRXN1	9378	hgsc.bcm.edu	37	2	51255154	51255154	+	Silent	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:51255154G>A	ENST00000406316.2	-	2	1734	c.258C>T	c.(256-258)ggC>ggT	p.G86G	NRXN1_ENST00000406859.3_Silent_p.G86G|NRXN1_ENST00000405472.3_Silent_p.G86G|NRXN1_ENST00000401669.2_Silent_p.G86G|NRXN1_ENST00000402717.3_Silent_p.G86G|NRXN1_ENST00000405581.1_Silent_p.G86G|NRXN1_ENST00000404971.1_Silent_p.G86G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	86	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCAGGCGGCCGCCGCGCGTCA	0.662																																																0													13	17	16					2																	51255154		1982	4144	6126	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.258C>T	chr2.hg19:g.51255154G>A			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	hg19	CCDS54360.1																																																																																				0.662	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	51255154	G	A	51255154	2	1	4	1	0	0	0	0	0	0	0	1	10667	1074	38	1		1	NRXN1	2	51255154	Silent	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	39331120	51255154	191944219	17	270											
C2orf86	51057	hgsc.bcm.edu	37	2	63380691	63380691	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:63380691C>G	ENST00000272321.7	-	16	2624	c.2097G>C	c.(2095-2097)agG>agC	p.R699S	WDPCP_ENST00000398544.3_Missense_Mutation_p.R540S|WDPCP_ENST00000409199.1_Missense_Mutation_p.R507S|WDPCP_ENST00000409120.1_Missense_Mutation_p.R507S	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	699					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R699S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CAAGTTCATTCCTTCTGTCAA	0.294																																																1	Substitution - Missense(1)	lung(1)											86	80	82					2																	63380691		1798	4058	5856	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.2097G>C	chr2.hg19:g.63380691C>G	ENSP00000272321:p.Arg699Ser		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	hg19	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.562941	0.00903	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.72505	-0.66;-0.08;-0.08;-0.08	4.57	-3.39	0.04868	.	.	.	.	.	T	0.49115	0.1538	N	0.14661	0.345	0.09310	N	1	B;B	0.30281	0.18;0.275	B;B	0.25405	0.017;0.06	T	0.26744	-1.0094	9	0.62326	D	0.03	-0.5444	10.4749	0.44659	0.0:0.3924:0.0:0.6076	.	699;540	O95876;O95876-3	FRITZ_HUMAN;.	S	699;507;507;540	ENSP00000272321:R699S;ENSP00000386592:R507S;ENSP00000386769:R507S;ENSP00000381552:R540S	ENSP00000272321:R699S	R	-	3	2	WDPCP	63234195	0.007000	0.16637	0.001000	0.08648	0.161000	0.22273	-0.042000	0.12063	-1.185000	0.02716	-1.124000	0.02001	AGG		0.294	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		G	63380691	C	G	63380691	3	3	4	1	0	0	0	0	1	0	0	0	2203	854	30	4	155	4	C2orf86	2	63380691	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	12125537	63380691	179818682	18	271											
DYSF	8291	hgsc.bcm.edu	37	2	71740432	71740437	+	Intron	DEL	TACTCT	TACTCT	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	TACTCT	TACTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:71740432_71740437delTACTCT	ENST00000258104.3	+	6	734				DYSF_ENST00000409366.1_Intron|DYSF_ENST00000394120.2_Intron|DYSF_ENST00000409762.1_In_Frame_Del_p.YS174del|DYSF_ENST00000409651.1_In_Frame_Del_p.YS175del|DYSF_ENST00000410020.3_In_Frame_Del_p.YS175del|DYSF_ENST00000410041.1_In_Frame_Del_p.YS175del|DYSF_ENST00000413539.2_In_Frame_Del_p.YS174del|DYSF_ENST00000409744.1_Intron|DYSF_ENST00000409582.3_In_Frame_Del_p.YS174del|DYSF_ENST00000429174.2_Intron	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin						plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGACACGAGATACTCTGGAAAGAAGT	0.636																																																0																																										SO:0001627	intron_variant	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.458-409TACTCT>-	chr2.hg19:g.71740432_71740437delTACTCT			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	In_Frame_Del	DEL	ENST00000258104.3	hg19	CCDS1918.1																																																																																				0.636	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		-	71740437	TACTCT	-	71740432	6	5	4	0	1	1	0	1	0	0	0	0	4861	1406	49	0		0	DYSF	2	71740432	Intron	DEL	TACTCT	TCGA-2Z-A9J3-01A-12D-A382-10	8359741	71740432	171458941	19	272											
ACTR1B	10120	hgsc.bcm.edu	37	2	98275931	98275931	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:98275931C>T	ENST00000289228.5	-	4	415	c.199G>A	c.(199-201)Ggg>Agg	p.G67R		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	67					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GTCAGCAGCCCCCGGTGCTCC	0.652																																																0													152	150	151					2																	98275931		2203	4300	6503	SO:0001583	missense	10120			X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.199G>A	chr2.hg19:g.98275931C>T	ENSP00000289228:p.Gly67Arg		D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	hg19	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	33	5.207637	0.95033	.	.	ENSG00000115073	ENST00000289228	D	0.94650	-3.48	5.18	5.18	0.71444	.	0.062472	0.64402	D	0.000005	D	0.97763	0.9266	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98725	1.0710	10	0.87932	D	0	.	16.1821	0.81915	0.0:1.0:0.0:0.0	.	67	P42025	ACTY_HUMAN	R	67	ENSP00000289228:G67R	ENSP00000289228:G67R	G	-	1	0	ACTR1B	97642363	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.795000	0.85887	2.427000	0.82271	0.555000	0.69702	GGG		0.652	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		T	98275931	C	T	98275931	3	4	4	1	0	0	0	0	1	0	0	0	210	623	22	2	963	2	ACTR1B	2	98275931	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	26535499	98275931	144923442	20	273											
MERTK	10461	hgsc.bcm.edu	37	2	112705128	112705128	+	Silent	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:112705128C>T	ENST00000295408.4	+	4	998	c.741C>T	c.(739-741)tcC>tcT	p.S247S	MERTK_ENST00000409780.1_Silent_p.S71S|MERTK_ENST00000421804.2_Silent_p.S247S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	247	Ig-like C2-type 2.			S -> G (in Ref. 1; AAB60430). {ECO:0000305}.	apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AATCCCCCTCCGTGCTAACTG	0.507																																																0													51	54	53					2																	112705128		2203	4300	6503	SO:0001819	synonymous_variant	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.741C>T	chr2.hg19:g.112705128C>T			Q9HBB4	Silent	SNP	ENST00000295408.4	hg19	CCDS2094.1																																																																																				0.507	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			T	112705128	C	T	112705128	2	4	4	1	0	0	0	0	0	0	0	1	9481	639	23	1		1	MERTK	2	112705128	Silent	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	14429197	112705128	130494245	21	274											
STAM2	10254	hgsc.bcm.edu	37	2	152980339	152980339	+	Silent	SNP	A	A	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:152980339A>C	ENST00000263904.4	-	13	1639	c.1290T>G	c.(1288-1290)tcT>tcG	p.S430S		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	430					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTGGAGGCAGAGATCTCAGTG	0.408																																																0													125	110	115					2																	152980339		2203	4300	6503	SO:0001819	synonymous_variant	10254			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.1290T>G	chr2.hg19:g.152980339A>C			A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Silent	SNP	ENST00000263904.4	hg19	CCDS2196.1																																																																																				0.408	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		C	152980339	A	C	152980339	2	2	4	1	0	0	0	0	0	0	0	1	15254	291	11	5		5	STAM2	2	152980339	Silent	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	40275211	152980339	90219034	22	275											
UPP2	151531	hgsc.bcm.edu	37	2	158978032	158978032	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:158978032A>G	ENST00000005756.4	+	5	760	c.566A>G	c.(565-567)gAc>gGc	p.D189G	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.D246G|UPP2_ENST00000605860.1_Missense_Mutation_p.D246G	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	189					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	ACTGAACTGGACAAAGAACTG	0.423																																																0													183	178	180					2																	158978032		2203	4299	6502	SO:0001583	missense	151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.566A>G	chr2.hg19:g.158978032A>G	ENSP00000005756:p.Asp189Gly		B3KV87	Missense_Mutation	SNP	ENST00000005756.4	hg19	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.486167	0.44147	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.90732	-2.72;-2.72	5.75	4.53	0.55603	Nucleoside phosphorylase domain (1);	0.047805	0.85682	D	0.000000	D	0.95085	0.8408	M	0.88704	2.975	0.58432	D	0.999998	D	0.65815	0.995	D	0.66847	0.947	D	0.95272	0.8378	10	0.66056	D	0.02	.	10.8108	0.46547	0.8584:0.0:0.0:0.1416	.	189	O95045	UPP2_HUMAN	G	246;189	ENSP00000387230:D246G;ENSP00000005756:D189G	ENSP00000005756:D189G	D	+	2	0	UPP2	158686278	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	6.094000	0.71431	2.195000	0.70347	0.533000	0.62120	GAC		0.423	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		G	158978032	A	G	158978032	3	3	4	1	0	0	0	0	1	0	0	0	17018	275	10	3	763	3	UPP2	2	158978032	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	5997693	158978032	84221341	23	276											
LY75	4065	hgsc.bcm.edu	37	2	160743016	160743016	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:160743016G>C	ENST00000263636.4	-	5	855	c.828C>G	c.(826-828)ttC>ttG	p.F276L	LY75_ENST00000553424.1_Missense_Mutation_p.F276L|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.F276L|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.F276L|LY75_ENST00000554112.1_Missense_Mutation_p.F276L	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	276	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AACCAATCCAGAAAATCTTAG	0.338																																																0													103	104	103					2																	160743016		2203	4300	6503	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.828C>G	chr2.hg19:g.160743016G>C	ENSP00000263636:p.Phe276Leu		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	hg19	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418920	0.25552	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.77	3.95	0.45737	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.223549	0.22745	N	0.056144	T	0.12689	0.0308	L	0.33753	1.03	0.32662	N	0.517909	B;P;P	0.44309	0.259;0.832;0.763	B;B;B	0.42495	0.082;0.389;0.309	T	0.11616	-1.0580	10	0.02654	T	1	-9.0045	5.7022	0.17889	0.2339:0.1426:0.6235:0.0	.	276;276;276	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	L	276	ENSP00000451511:F276L;ENSP00000451446:F276L;ENSP00000263636:F276L;ENSP00000423463:F276L;ENSP00000421035:F276L	ENSP00000423463:F276L	F	-	3	2	LY75;LY75-CD302	160451262	1.000000	0.71417	0.993000	0.49108	0.856000	0.48823	0.890000	0.28295	0.755000	0.32990	0.557000	0.71058	TTC		0.338	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			C	160743016	G	C	160743016	3	2	4	1	0	0	0	0	1	0	0	0	9101	933	33	4	4464	4	LY75	2	160743016	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	1764984	160743016	82456357	24	277											
SCN9A	6335	hgsc.bcm.edu	37	2	167142945	167142945	+	Silent	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:167142945C>T	ENST00000409435.1	-	10	1502	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.S502S|SCN9A_ENST00000409672.1_Silent_p.S501S|SCN9A_ENST00000375387.4_Silent_p.S502S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	501				S -> P (in Ref. 4; AAT85835). {ECO:0000305}.	behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.S501S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTCTGATTTCGACAATTTCT	0.428																																																1	Substitution - coding silent(1)	prostate(1)											170	161	164					2																	167142945		1910	4120	6030	SO:0001819	synonymous_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1503G>A	chr2.hg19:g.167142945C>T			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	hg19	CCDS46441.1																																																																																				0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167142945	C	T	167142945	2	4	4	1	0	0	0	0	0	0	0	1	13931	871	31	1		1	SCN9A	2	167142945	Silent	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	6399929	167142945	76056428	25	278											
PARD3B	117583	hgsc.bcm.edu	37	2	205550903	205550903	+	Splice_Site	DEL	G	G	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:205550903delG	ENST00000406610.2	+	2	327		c.e2-1		PARD3B_ENST00000358768.2_Splice_Site|PARD3B_ENST00000351153.1_Splice_Site|PARD3B_ENST00000462231.1_Splice_Site|PARD3B_ENST00000349953.3_Splice_Site	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTCTACTATAGGGTCCTGGTT	0.328																																																0													127	114	118					2																	205550903		1830	4085	5915	SO:0001630	splice_region_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.121-1G>-	chr2.hg19:g.205550903delG			E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Splice_Site	DEL	ENST00000406610.2	hg19																																																																																					0.328	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	Intron	-	205550903	G	-	205550903	8	5	4	1	0	1	0	1	0	0	1	0	11446	1014	35	0	126	0	PARD3B	2	205550903	Splice_Site	DEL	G	TCGA-2Z-A9J3-01A-12D-A382-10	38407958	205550903	37648470	26	279											
KIAA1486	57624	hgsc.bcm.edu	37	2	226378138	226378138	+	Silent	SNP	T	T	C	rs373061629		TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:226378138T>C	ENST00000272907.6	+	3	686	c.273T>C	c.(271-273)caT>caC	p.H91H	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	91					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TGGGCAAACATTTCCGCATGG	0.507																																																0								T		0,4116		0,0,2058	79	83	82		273	-5.2	0.9	2		82	1,8379		0,1,4189	no	coding-synonymous	KIAA1486	NM_020864.1		0,1,6247	CC,CT,TT		0.0119,0.0,0.0080		91/654	226378138	1,12495	2058	4190	6248	SO:0001819	synonymous_variant	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.273T>C	chr2.hg19:g.226378138T>C			A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	hg19	CCDS46529.1																																																																																				0.507	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		C	226378138	T	C	226378138	2	2	4	1	0	0	0	0	0	0	0	1	8239	1490	52	3		3	KIAA1486	2	226378138	Silent	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	20827235	226378138	16821235	27	280											
KCNJ13	3769	hgsc.bcm.edu	37	2	233633084	233633084	+	Silent	SNP	T	T	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr2:233633084T>C	ENST00000233826.3	-	3	1039	c.900A>G	c.(898-900)gcA>gcG	p.A300A	GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373566.3_Intron|AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000410029.1_Silent_p.A300A	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	300					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TCAACAGAGATGCAAAACAGT	0.428																																																0													167	160	163					2																	233633084		2203	4300	6503	SO:0001819	synonymous_variant	3769			AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.900A>G	chr2.hg19:g.233633084T>C			A0PGH1|O76023|Q53SA1|Q8N3Y4	Silent	SNP	ENST00000233826.3	hg19	CCDS2498.1																																																																																				0.428	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		C	233633084	T	C	233633084	2	2	4	1	0	0	0	0	0	0	0	1	8049	1451	51	3		3	KCNJ13	2	233633084	Silent	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	7254946	233633084	9566289	28	281											
TTC21A	199223	hgsc.bcm.edu	37	3	39175774	39175775	+	Frame_Shift_Ins	INS	-	-	TCCA			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr3:39175774_39175775insTCCA	ENST00000431162.2	+	21	2972_2973	c.2838_2839insTCCA	c.(2839-2841)gccfs	p.A947fs	TTC21A_ENST00000301819.6_Frame_Shift_Ins_p.A948fs|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Frame_Shift_Ins_p.A899fs			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	947										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGCAGCACTGTGCCATCCTCCT	0.599																																																0																																										SO:0001589	frameshift_variant	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	Exception_encountered	chr3.hg19:g.39175774_39175775insTCCA	ENSP00000398211:p.Ala947fs		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Frame_Shift_Ins	INS	ENST00000431162.2	hg19	CCDS46800.1																																																																																				0.599	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		TCCA	39175775	-	TCCA	39175774	7	5	4	1	0	1	1	0	0	0	0	0	16692	1702	59	0	2923	0	TTC21A	3	39175774	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J3-01A-12D-A382-10		39175774	158846656	29	282	3	2									
TTC21A	199223	hgsc.bcm.edu	37	3	39175775	39175775	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr3:39175775G>T	ENST00000431162.2	+	21	2973	c.2839G>T	c.(2839-2841)Gcc>Tcc	p.A947S	TTC21A_ENST00000301819.6_Missense_Mutation_p.A948S|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.A899S			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	947										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCAGCACTGTGCCATCCTCCT	0.602																																																0													147	155	152					3																	39175775		2086	4219	6305	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2839G>T	chr3.hg19:g.39175775G>T	ENSP00000398211:p.Ala947Ser		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	hg19	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	7.855	0.724787	0.15439	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.36699	1.24;1.24;1.24	4.65	0.648	0.17801	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.519636	0.18015	N	0.154438	T	0.17408	0.0418	N	0.25992	0.78	0.09310	N	1	B;B;B;B	0.26775	0.159;0.003;0.002;0.001	B;B;B;B	0.24848	0.056;0.003;0.007;0.003	T	0.22977	-1.0201	10	0.08599	T	0.76	-4.3657	3.9914	0.09538	0.4069:0.0:0.4332:0.1599	.	68;899;948;947	B4DSJ5;Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;.;TT21A_HUMAN	S	948;930;947;899	ENSP00000301819:A948S;ENSP00000398211:A947S;ENSP00000410882:A899S	ENSP00000301819:A948S	A	+	1	0	TTC21A	39150779	0.000000	0.05858	0.076000	0.20297	0.790000	0.44656	0.000000	0.12993	0.182000	0.20032	0.561000	0.74099	GCC		0.602	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		T	39175775	G	T	39175775	3	4	4	1	0	0	0	0	1	0	0	0	16692	1319	46	4	2924	4	TTC21A	3	39175775	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	1	39175775	158846655	30	283	3	2									
TGM4	7047	hgsc.bcm.edu	37	3	44943387	44943387	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr3:44943387G>A	ENST00000296125.4	+	8	1003	c.935G>A	c.(934-936)gGc>gAc	p.G312D	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	312					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AATGAGAATGGCGAGAAAATC	0.502																																																0													129	124	125					3																	44943387		2203	4300	6503	SO:0001583	missense	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.935G>A	chr3.hg19:g.44943387G>A	ENSP00000296125:p.Gly312Asp		Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	hg19	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418147	0.25552	.	.	ENSG00000163810	ENST00000296125	T	0.58652	0.32	2.99	2.09	0.27110	Transglutaminase-like (2);	0.000000	0.44902	U	0.000419	T	0.70219	0.3199	M	0.73217	2.22	0.09310	N	0.999999	D	0.69078	0.997	D	0.70016	0.967	T	0.61163	-0.7118	10	0.72032	D	0.01	.	10.0566	0.42248	0.1074:0.0:0.8926:0.0	.	312	P49221	TGM4_HUMAN	D	312	ENSP00000296125:G312D	ENSP00000296125:G312D	G	+	2	0	TGM4	44918391	0.008000	0.16893	0.002000	0.10522	0.018000	0.09664	0.567000	0.23608	0.541000	0.28827	0.563000	0.77884	GGC		0.502	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		A	44943387	G	A	44943387	3	1	4	1	0	0	0	0	1	0	0	0	15837	1203	42	2	965	2	TGM4	3	44943387	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	5767612	44943387	153079043	31	284											
EPHA6	285220	hgsc.bcm.edu	37	3	96706660	96706660	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr3:96706660G>T	ENST00000389672.5	+	3	975	c.937G>T	c.(937-939)Gat>Tat	p.D313Y	EPHA6_ENST00000470610.2_Missense_Mutation_p.D313Y|EPHA6_ENST00000542517.1_Missense_Mutation_p.D219Y	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	219						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.D219Y(2)|p.D219H(1)|p.D313Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATGTTTCCTGATACCATTCC	0.478																																																4	Substitution - Missense(4)	lung(3)|breast(1)											214	217	216					3																	96706660		1981	4178	6159	SO:0001583	missense	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.937G>T	chr3.hg19:g.96706660G>T	ENSP00000374323:p.Asp313Tyr		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	hg19	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.282417|4.282417	0.80692|0.80692	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.75938|.	4.94;-0.98;4.4|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.150900|.	0.41097|.	U|.	0.000948|.	D|.	0.83524|.	0.5273|.	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.76071|.	0.987;0.982|.	D|.	0.85544|.	0.1217|.	10|.	0.87932|.	D|.	0|.	.|.	18.3228|18.3228	0.90244|0.90244	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	313;313|.	B3KS12;E7EU71|.	.;.|.	Y|L	313;313;219|257	ENSP00000420598:D313Y;ENSP00000374323:D313Y;ENSP00000439758:D219Y|.	ENSP00000374323:D313Y|.	D|X	+|+	1|2	0|2	EPHA6|EPHA6	98189350|98189350	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.478	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		T	96706660	G	T	96706660	3	4	4	1	0	0	0	0	1	0	0	0	5173	1290	45	4	947	4	EPHA6	3	96706660	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	51763273	96706660	101315770	32	285											
MBD4	8930	hgsc.bcm.edu	37	3	129156116	129156116	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr3:129156116A>C	ENST00000249910.1	-	3	546	c.371T>G	c.(370-372)cTt>cGt	p.L124R	MBD4_ENST00000507208.1_Missense_Mutation_p.L124R|MBD4_ENST00000429544.2_Missense_Mutation_p.L124R|IFT122_ENST00000504021.1_5'Flank|IFT122_ENST00000507564.1_5'Flank|MBD4_ENST00000503197.1_Missense_Mutation_p.L124R|MBD4_ENST00000509587.1_Intron|IFT122_ENST00000347300.2_5'Flank|IFT122_ENST00000348417.2_5'Flank|IFT122_ENST00000431818.2_5'Flank|MBD4_ENST00000393278.2_Intron|IFT122_ENST00000349441.2_5'Flank|IFT122_ENST00000296266.3_5'Flank	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	124	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATAATTAGCAAGTGAACTTTT	0.338								Base excision repair (BER), DNA glycosylases																																								0													45	47	46					3																	129156116		2202	4298	6500	SO:0001583	missense	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.371T>G	chr3.hg19:g.129156116A>C	ENSP00000249910:p.Leu124Arg		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	hg19	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946829	0.73672	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	5.44	5.44	0.79542	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.141330	0.48286	D	0.000200	D	0.98880	0.9621	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.87578	0.964;0.983;0.998;0.964	D	0.99780	1.1027	10	0.87932	D	0	-7.3728	15.2347	0.73419	1.0:0.0:0.0:0.0	.	124;124;124;124	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	R	124	ENSP00000394080:L124R;ENSP00000249910:L124R;ENSP00000424873:L124R;ENSP00000422327:L124R	ENSP00000249910:L124R	L	-	2	0	MBD4	130638806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.294000	0.78760	2.090000	0.63153	0.529000	0.55759	CTT		0.338	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		C	129156116	A	C	129156116	3	2	4	1	0	0	0	0	1	0	0	0	9348	72	3	5	1395	5	MBD4	3	129156116	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	32449456	129156116	68866314	33	286											
XRN1	54464	hgsc.bcm.edu	37	3	142141761	142141764	+	Splice_Site	DEL	TACC	TACC	-	rs183730909|rs370828065|rs146086047	byFrequency	TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	TACC	TACC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr3:142141761_142141764delTACC	ENST00000264951.4	-	7	828_831	c.711_714delGGTA	c.(709-714)cgggta>cg	p.RV237fs	XRN1_ENST00000392981.2_Splice_Site_p.RV237fs|RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000544157.1_Splice_Site_p.RV27fs|XRN1_ENST00000463916.1_Splice_Site_p.RV237fs	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	237					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTGGAGCACATACCCTGGAATTAG	0.304																																																0																																										SO:0001630	splice_region_variant	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.711-1GGTA>-	chr3.hg19:g.142141761_142141764delTACC			Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Frame_Shift_Del	DEL	ENST00000264951.4	hg19	CCDS3123.1																																																																																				0.304	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	Frame_Shift_Del	-	142141764	TACC	-	142141761	8	5	4	1	0	1	0	1	0	0	1	0	17464	1393	49	0	4550	0	XRN1	3	142141761	Splice_Site	DEL	TACC	TCGA-2Z-A9J3-01A-12D-A382-10	12985645	142141761	55880669	34	287											
B3GALNT1	8706	hgsc.bcm.edu	37	3	160803876	160803876	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr3:160803876G>T	ENST00000392781.2	-	8	1414	c.667C>A	c.(667-669)Cat>Aat	p.H223N	B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.H223N|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.H223N|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.H223N|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.H223N|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.H223N	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	223					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TAAGAAATATGGGTTTTTTGG	0.358																																																0													36	38	37					3																	160803876		2201	4295	6496	SO:0001583	missense	8706			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"Blood group antigens", "Beta 3-glycosyltransferases"	918	protein-coding gene	gene with protein product	"globoside synthase", "P antigen synthase"	603094	"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.667C>A	chr3.hg19:g.160803876G>T	ENSP00000376532:p.His223Asn		D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	hg19	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740650	0.30865	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.94	3.93	0.45458	.	0.169504	0.42420	D	0.000710	T	0.23572	0.0570	N	0.17474	0.49	0.42318	D	0.992247	P	0.48162	0.906	B	0.39562	0.303	T	0.04621	-1.0938	10	0.54805	T	0.06	.	7.1051	0.25358	0.2735:0.0:0.7265:0.0	.	223	O75752	B3GL1_HUMAN	N	223	ENSP00000323479:H223N;ENSP00000376530:H223N;ENSP00000376531:H223N;ENSP00000376532:H223N;ENSP00000418226:H223N;ENSP00000420163:H223N	ENSP00000323479:H223N	H	-	1	0	B3GALNT1	162286570	1.000000	0.71417	0.924000	0.36721	0.783000	0.44284	4.406000	0.59748	1.525000	0.49052	0.561000	0.74099	CAT		0.358	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		T	160803876	G	T	160803876	3	4	4	1	0	0	0	0	1	0	0	0	1245	1348	47	4	332	4	B3GALNT1	3	160803876	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	18662115	160803876	37218554	35	288											
STX18	53407	hgsc.bcm.edu	37	4	4459185	4459185	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr4:4459185G>A	ENST00000306200.2	-	4	458	c.395C>T	c.(394-396)aCc>aTc	p.T132I	STX18_ENST00000505286.1_Missense_Mutation_p.T132I	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	132					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CAAAACAGCGGTCCTGTGCTC	0.363																																																0													78	78	78					4																	4459185		2203	4300	6503	SO:0001583	missense	53407			AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.395C>T	chr4.hg19:g.4459185G>A	ENSP00000305810:p.Thr132Ile		Q596L3|Q5TZP5	Missense_Mutation	SNP	ENST00000306200.2	hg19	CCDS3377.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323926	0.24080	.	.	ENSG00000168818	ENST00000505286;ENST00000306200;ENST00000512195;ENST00000507908	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.97	0.964	0.19655	.	0.463921	0.24001	N	0.042479	T	0.44953	0.1318	M	0.61703	1.905	0.09310	N	1	B	0.17268	0.021	B	0.23018	0.043	T	0.46048	-0.9219	10	0.45353	T	0.12	-9.8899	13.7013	0.62611	0.0:0.1307:0.7212:0.1481	.	132	Q9P2W9	STX18_HUMAN	I	132;132;51;51	ENSP00000426648:T132I;ENSP00000305810:T132I;ENSP00000425483:T51I;ENSP00000422376:T51I	ENSP00000305810:T132I	T	-	2	0	STX18	4510086	0.117000	0.22190	0.182000	0.23118	0.960000	0.62799	0.441000	0.21611	0.225000	0.20959	0.655000	0.94253	ACC		0.363	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			A	4459185	G	A	4459185	3	1	4	1	0	0	0	0	1	0	0	0	15346	1261	44	2	644	2	STX18	4	4459185	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10		4459185	186695091	36	289											
EVC	2121	hgsc.bcm.edu	37	4	5755635	5755635	+	Missense_Mutation	SNP	C	C	T	rs372893834		TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr4:5755635C>T	ENST00000264956.6	+	10	1623	c.1439C>T	c.(1438-1440)aCt>aTt	p.T480I	EVC_ENST00000509451.1_Missense_Mutation_p.T480I|EVC_ENST00000382674.2_Missense_Mutation_p.T480I	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	480					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCCCAGCCGACTGCTGACCCG	0.607																																																0													69	65	66					4																	5755635		2203	4300	6503	SO:0001583	missense	2121			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1439C>T	chr4.hg19:g.5755635C>T	ENSP00000264956:p.Thr480Ile			Missense_Mutation	SNP	ENST00000264956.6	hg19	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	6.430	0.447423	0.12223	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.52295	0.67;0.67;0.74	5.04	1.76	0.24704	.	1.042050	0.07485	N	0.904571	T	0.37320	0.0999	L	0.48362	1.52	0.09310	N	0.999999	B	0.20780	0.048	B	0.18561	0.022	T	0.28073	-1.0055	10	0.20046	T	0.44	.	5.4056	0.16320	0.1469:0.6168:0.1437:0.0925	.	480	P57679	EVC_HUMAN	I	480	ENSP00000264956:T480I;ENSP00000372120:T480I;ENSP00000426774:T480I	ENSP00000264956:T480I	T	+	2	0	EVC	5806536	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.097000	0.11042	0.494000	0.27859	0.561000	0.74099	ACT		0.607	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			T	5755635	C	T	5755635	3	4	4	1	0	0	0	0	1	0	0	0	5287	565	20	2	1477	2	EVC	4	5755635	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	1296450	5755635	185398641	37	290											
SLIT2	9353	hgsc.bcm.edu	37	4	20493404	20493404	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr4:20493404C>A	ENST00000504154.1	+	9	1048	c.796C>A	c.(796-798)Cct>Act	p.P266T	SLIT2_ENST00000503837.1_Missense_Mutation_p.P270T|SLIT2_ENST00000503823.1_Missense_Mutation_p.P266T|SLIT2_ENST00000273739.5_Missense_Mutation_p.P270T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	266	LRRNT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTTATGGCTCCTTCTTGTAG	0.408																																																0													137	137	137					4																	20493404		2203	4300	6503	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.796C>A	chr4.hg19:g.20493404C>A	ENSP00000422591:p.Pro266Thr		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	hg19	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134469	0.56828	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81415	-1.48;-1.49;-1.36;-1.41	5.63	5.63	0.86233	.	0.149034	0.64402	D	0.000006	T	0.77618	0.4157	L	0.54323	1.7	0.45108	D	0.998129	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.002	T	0.71220	-0.4657	10	0.15066	T	0.55	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	266;266	O94813-3;O94813	.;SLIT2_HUMAN	T	266;266;270;270;270	ENSP00000427548:P266T;ENSP00000422591:P266T;ENSP00000273739:P270T;ENSP00000422261:P270T	ENSP00000273739:P270T	P	+	1	0	SLIT2	20102502	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.200000	0.51051	2.826000	0.97356	0.655000	0.94253	CCT		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			A	20493404	C	A	20493404	3	1	4	1	0	0	0	0	1	0	0	0	14746	855	30	4	830	4	SLIT2	4	20493404	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	14737769	20493404	170660872	38	291											
APBB2	323	hgsc.bcm.edu	37	4	41015837	41015837	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr4:41015837T>A	ENST00000295974.8	-	6	1227	c.598A>T	c.(598-600)Atc>Ttc	p.I200F	APBB2_ENST00000508593.1_Missense_Mutation_p.I200F|APBB2_ENST00000506352.1_Missense_Mutation_p.I200F|APBB2_ENST00000513140.1_Missense_Mutation_p.I200F	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	200					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TTCCCAATGATGGTGGAGGCC	0.557																																					Ovarian(3;20 75 16686 49997)											0													265	252	256					4																	41015837		1987	4158	6145	SO:0001583	missense	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.598A>T	chr4.hg19:g.41015837T>A	ENSP00000295974:p.Ile200Phe		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	hg19	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.898|4.898	0.166940|0.166940	0.09339|0.09339	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	.|T;T;T;T	.|0.25749	.|1.78;1.78;1.78;1.78	5.8|5.8	-2.84|-2.84	0.05751|0.05751	.|.	.|1.102730	.|0.06664	.|N	.|0.765002	T|T	0.17959|0.17959	0.0431|0.0431	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.21821	.|0.017;0.037;0.061;0.037	.|B;B;B;B	.|0.24006	.|0.046;0.023;0.05;0.023	T|T	0.33420|0.33420	-0.9869|-0.9869	5|10	.|0.56958	.|D	.|0.05	-3.9618|-3.9618	14.6774|14.6774	0.68989|0.68989	0.0:0.2997:0.0:0.7003|0.0:0.2997:0.0:0.7003	.|.	.|183;200;200;200	.|B4DJ88;E9PG87;Q92870-2;Q92870	.|.;.;.;APBB2_HUMAN	L|F	189|200;199;200;200;200	.|ENSP00000295974:I200F;ENSP00000426018:I200F;ENSP00000427211:I200F;ENSP00000421539:I200F	.|ENSP00000295974:I200F	H|I	-|-	2|1	0|0	APBB2|APBB2	40710594|40710594	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.057000|0.057000	0.15508|0.15508	-4.051000|-4.051000	0.00305|0.00305	-1.047000|-1.047000	0.03242|0.03242	-0.464000|-0.464000	0.05259|0.05259	CAT|ATC		0.557	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		A	41015837	T	A	41015837	3	1	4	1	0	0	0	0	1	0	0	0	761	1464	51	5	1733	5	APBB2	4	41015837	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	20522433	41015837	150138439	39	292											
RUFY3	22902	hgsc.bcm.edu	37	4	71639251	71639251	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr4:71639251G>T	ENST00000226328.4	+	6	1283	c.720G>T	c.(718-720)atG>atT	p.M240I	RUFY3_ENST00000502653.1_Missense_Mutation_p.M187I|RUFY3_ENST00000536664.1_Missense_Mutation_p.M224I|RUFY3_ENST00000417478.2_Missense_Mutation_p.M300I|RUFY3_ENST00000381006.3_Missense_Mutation_p.M240I	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	240					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			ATTTTTCAATGTATCTCAAGG	0.343																																																0													74	77	76					4																	71639251		2203	4299	6502	SO:0001583	missense	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.720G>T	chr4.hg19:g.71639251G>T	ENSP00000226328:p.Met240Ile		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	hg19	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971077	0.74246	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T	0.21361	2.71;3.1;2.74;2.74;2.01;3.1	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	L	0.55834	1.745	0.80722	D	1	B;B;P;B	0.45126	0.123;0.335;0.851;0.057	B;B;P;B	0.58391	0.041;0.19;0.838;0.032	T	0.01920	-1.1247	10	0.40728	T	0.16	-25.3268	19.6602	0.95864	0.0:0.0:1.0:0.0	.	224;240;240;300	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	I	300;240;240;224;176;187	ENSP00000399771:M300I;ENSP00000370394:M240I;ENSP00000226328:M240I;ENSP00000443652:M224I;ENSP00000425574:M176I;ENSP00000425400:M187I	ENSP00000226328:M240I	M	+	3	0	RUFY3	71858115	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.390000	0.97246	2.638000	0.89438	0.460000	0.39030	ATG		0.343	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		T	71639251	G	T	71639251	3	4	4	1	0	0	0	0	1	0	0	0	13746	1377	48	4	1104	4	RUFY3	4	71639251	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	30623414	71639251	119515025	40	293											
SLC4A4	8671	hgsc.bcm.edu	37	4	72222802	72222802	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr4:72222802C>T	ENST00000264485.5	+	6	745	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Missense_Mutation_p.R166W|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R210W|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R210W|SLC4A4_ENST00000512686.1_Missense_Mutation_p.R166W	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	210					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TACTTTGCTCCGGAAGCACCG	0.443																																																0													134	135	134					4																	72222802		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.628C>T	chr4.hg19:g.72222802C>T	ENSP00000264485:p.Arg210Trp		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	hg19	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185700	0.78789	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.84	5.84	0.93424	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.84220	0.5424	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;0.995;1.0	D	0.86729	0.1947	10	0.87932	D	0	.	13.0889	0.59156	0.2651:0.7349:0.0:0.0	.	210;210;166;166;190;210	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	W	210;210;210;166;166	ENSP00000264485:R210W;ENSP00000393557:R210W;ENSP00000307349:R210W;ENSP00000422400:R166W;ENSP00000344272:R166W	ENSP00000264485:R210W	R	+	1	2	SLC4A4	72441666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.075000	0.41538	2.751000	0.94390	0.655000	0.94253	CGG		0.443	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		T	72222802	C	T	72222802	3	4	4	1	0	0	0	0	1	0	0	0	14662	643	23	1	767	1	SLC4A4	4	72222802	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	583551	72222802	118931474	41	294											
ARHGAP10	79658	hgsc.bcm.edu	37	4	148800473	148800473	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr4:148800473G>C	ENST00000336498.3	+	9	1162	c.923G>C	c.(922-924)aGa>aCa	p.R308T	ARHGAP10_ENST00000414545.2_5'Flank	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTGAGCACAGATCTGGAGGG	0.373																																																0													134	125	128					4																	148800473		2203	4300	6503	SO:0001583	missense	79658			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.923G>C	chr4.hg19:g.148800473G>C	ENSP00000336923:p.Arg308Thr		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	hg19	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327682	0.60743	.	.	ENSG00000071205	ENST00000336498	T	0.42513	0.97	5.1	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	P	0.52957	0.714	T	0.39272	-0.9622	10	0.45353	T	0.12	.	18.1426	0.89644	0.0:0.0:1.0:0.0	.	308	A1A4S6	RHG10_HUMAN	T	308	ENSP00000336923:R308T	ENSP00000336923:R308T	R	+	2	0	ARHGAP10	149019923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.116000	0.57871	2.378000	0.81104	0.561000	0.74099	AGA		0.373	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		C	148800473	G	C	148800473	3	2	4	1	0	0	0	0	1	0	0	0	862	942	33	4	957	4	ARHGAP10	4	148800473	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	76577671	148800473	42353803	42	295											
ETFDH	2110	hgsc.bcm.edu	37	4	159629584	159629584	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr4:159629584G>T	ENST00000511912.1	+	13	2091	c.1759G>T	c.(1759-1761)Gta>Tta	p.V587L	ETFDH_ENST00000307738.5_Missense_Mutation_p.V540L	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	587	4Fe-4S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00711}.				cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TCAGAACTGTGTACATTGTAA	0.363																																																0													115	112	113					4																	159629584		2203	4300	6503	SO:0001583	missense	2110			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1759G>T	chr4.hg19:g.159629584G>T	ENSP00000426638:p.Val587Leu		B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	hg19	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902545	0.72754	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.93763	-3.28;-3.28	6.05	5.21	0.72293	4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89143	0.6631	L	0.31804	0.96	0.58432	D	0.999998	B;B;B	0.34264	0.064;0.111;0.446	B;B;B	0.33890	0.122;0.122;0.172	D	0.88267	0.2927	10	0.49607	T	0.09	-21.6302	15.2075	0.73190	0.067:0.0:0.933:0.0	.	540;526;587	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	L	587;540	ENSP00000426638:V587L;ENSP00000303552:V540L	ENSP00000303552:V540L	V	+	1	0	ETFDH	159849034	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.864000	0.99589	1.568000	0.49683	0.650000	0.86243	GTA		0.363	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			T	159629584	G	T	159629584	3	4	4	1	0	0	0	0	1	0	0	0	5273	1377	48	4	1809	4	ETFDH	4	159629584	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	10829111	159629584	31524692	43	296											
PCDHA9	9752	hgsc.bcm.edu	37	5	140230427	140230427	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr5:140230427A>G	ENST00000532602.1	+	1	3380	c.2347A>G	c.(2347-2349)Aca>Gca	p.T783A	PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.T783A|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	783	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGATCTACAGAGCGAAC	0.483																																					Melanoma(55;1800 1972 14909)											0													70	74	72					5																	140230427		2197	4272	6469	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2347A>G	chr5.hg19:g.140230427A>G	ENSP00000436042:p.Thr783Ala		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	hg19	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	1.760	-0.487128	0.04352	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.10860	2.83;2.83	4.24	0.115	0.14643	.	4.198160	0.02428	U	0.083234	T	0.04137	0.0115	N	0.03000	-0.44	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33137	-0.9880	10	0.07482	T	0.82	.	4.5943	0.12322	0.3795:0.1576:0.4629:0.0	.	783;783	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	A	783	ENSP00000436042:T783A;ENSP00000367362:T783A	ENSP00000367362:T783A	T	+	1	0	PCDHA9	140210611	0.000000	0.05858	0.003000	0.11579	0.269000	0.26545	-0.159000	0.10056	0.004000	0.14682	-0.415000	0.06103	ACA		0.483	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		G	140230427	A	G	140230427	3	3	4	1	0	0	0	0	1	0	0	0	11533	391	14	3	2349	3	PCDHA9	5	140230427	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10		140230427	40684833	44	297											
PCDHGC4	56098	hgsc.bcm.edu	37	5	140865167	140865167	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr5:140865167G>A	ENST00000306593.1	+	1	427	c.427G>A	c.(427-429)Ggg>Agg	p.G143R	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	143	Cadherin 2. {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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGAAATTGGGGAGGCAGC	0.542																																																0													62	66	65					5																	140865167		2203	4300	6503	SO:0001583	missense	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.427G>A	chr5.hg19:g.140865167G>A	ENSP00000306918:p.Gly143Arg		Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	hg19	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710368	0.48517	.	.	ENSG00000242419	ENST00000306593	T	0.49432	0.78	5.0	4.12	0.48240	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.35711	0.0941	N	0.11341	0.13	0.09310	N	1	D;P	0.54207	0.965;0.951	P;P	0.50659	0.514;0.647	T	0.08066	-1.0740	9	0.27082	T	0.32	.	9.464	0.38802	0.2253:0.0:0.7747:0.0	.	143;143	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	R	143	ENSP00000306918:G143R	ENSP00000306918:G143R	G	+	1	0	PCDHGC4	140845351	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.335000	0.19806	1.305000	0.44909	0.561000	0.74099	GGG		0.542	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		A	140865167	G	A	140865167	3	1	4	1	0	0	0	0	1	0	0	0	11572	1348	47	2	429	2	PCDHGC4	5	140865167	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	634740	140865167	40050093	45	298											
RARS	5917	hgsc.bcm.edu	37	5	167944991	167944992	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr5:167944991_167944992insTA	ENST00000231572.3	+	14	1851_1852	c.1797_1798insTA	c.(1798-1800)tatfs	p.Y600fs	RARS_ENST00000538719.1_Frame_Shift_Ins_p.Y394fs	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	600					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CTCTCTGTGATTATATATATGA	0.386																																																0																																										SO:0001589	frameshift_variant	5917			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1804_1805dupTA	chr5.hg19:g.167944998_167944999dupTA	ENSP00000231572:p.Tyr600fs		B2RBS9|Q53GY4|Q9BWA1	Frame_Shift_Ins	INS	ENST00000231572.3	hg19	CCDS4367.1																																																																																				0.386	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		TA	167944992	-	TA	167944991	7	5	4	1	0	1	1	0	0	0	0	0	13064	1490	52	0	1851	0	RARS	5	167944991	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J3-01A-12D-A382-10	27079824	167944991	12970269	46	299											
GABRP	2568	hgsc.bcm.edu	37	5	170235705	170235705	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr5:170235705T>G	ENST00000518525.1	+	9	1245	c.781T>G	c.(781-783)Tgg>Ggg	p.W261G	GABRP_ENST00000519598.1_Missense_Mutation_p.W261G|GABRP_ENST00000519385.1_Missense_Mutation_p.W261G|GABRP_ENST00000265294.4_Missense_Mutation_p.W261G			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	261					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGTGTTGTCCTGGGTTTCATT	0.428																																																0													236	212	220					5																	170235705		2203	4300	6503	SO:0001583	missense	2568			U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.781T>G	chr5.hg19:g.170235705T>G	ENSP00000430100:p.Trp261Gly		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	hg19	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193383	0.78902	.	.	ENSG00000094755	ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	4.94	4.94	0.65067	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.217481	0.51477	D	0.000081	D	0.92325	0.7565	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93898	0.7186	10	0.87932	D	0	.	14.5722	0.68218	0.0:0.0:0.0:1.0	.	261;261	E7EWG0;O00591	.;GBRP_HUMAN	G	261;159;261;261;261	ENSP00000430100:W261G;ENSP00000265294:W261G;ENSP00000430727:W261G;ENSP00000430772:W261G	ENSP00000265294:W261G	W	+	1	0	GABRP	170168283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.924000	0.87555	1.970000	0.57323	0.533000	0.62120	TGG		0.428	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		G	170235705	T	G	170235705	3	3	4	1	0	0	0	0	1	0	0	0	6176	1580	55	5	807	5	GABRP	5	170235705	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	2290714	170235705	10679555	47	300											
PFN3	345456	hgsc.bcm.edu	37	5	176827428	176827428	+	Silent	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr5:176827428C>T	ENST00000358571.2	-	1	209	c.150G>A	c.(148-150)gtG>gtA	p.V50V	F12_ENST00000514943.1_5'Flank	NM_001029886.2	NP_001025057.1	P60673	PROF3_HUMAN	profilin 3	50					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	lipid binding (GO:0008289)			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCCGTGAGCACGCCCACCT	0.741																																																0													4	5	5					5																	176827428		1993	3872	5865	SO:0001819	synonymous_variant	345456			AC090063	CCDS34301.1	5q35.2	2008-08-26			ENSG00000196570	ENSG00000196570			18627	protein-coding gene	gene with protein product		612812				11867228	Standard	NM_001029886		Approved		uc003mgl.2	P60673	OTTHUMG00000163408	ENST00000358571.2:c.150G>A	chr5.hg19:g.176827428C>T			A2RUL3	Silent	SNP	ENST00000358571.2	hg19	CCDS34301.1																																																																																				0.741	PFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373234.1	NM_001029886		T	176827428	C	T	176827428	2	4	4	1	0	0	0	0	0	0	0	1	11771	697	25	2		2	PFN3	5	176827428	Silent	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	6591723	176827428	4087832	48	301											
DSP	1832	hgsc.bcm.edu	37	6	7542208	7542208	+	Silent	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr6:7542208C>T	ENST00000379802.3	+	1	401	c.60C>T	c.(58-60)gcC>gcT	p.A20A	DSP_ENST00000418664.2_Silent_p.A20A|RP3-512B11.3_ENST00000561592.1_RNA	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	20	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATCCGCGCCGAGTCTGGCC	0.682																																																0													11	13	12					6																	7542208		2191	4284	6475	SO:0001819	synonymous_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.60C>T	chr6.hg19:g.7542208C>T			B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	hg19	CCDS4501.1																																																																																				0.682	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7542208	C	T	7542208	2	4	4	1	0	0	0	0	0	0	0	1	4783	639	23	1		1	DSP	6	7542208	Silent	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10		7542208	163572859	49	302											
DSP	1832	hgsc.bcm.edu	37	6	7584626	7584627	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr6:7584626_7584627insT	ENST00000379802.3	+	24	7472_7473	c.7131_7132insT	c.(7132-7134)attfs	p.I2378fs	DSP_ENST00000418664.2_Frame_Shift_Ins_p.I1779fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2378	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCGGGGGGATCATTGACCCAAA	0.45																																																0																																										SO:0001589	frameshift_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	Exception_encountered	chr6.hg19:g.7584626_7584627insT	ENSP00000369129:p.Ile2378fs		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Ins	INS	ENST00000379802.3	hg19	CCDS4501.1																																																																																				0.45	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7584627	-	T	7584626	7	5	4	1	0	1	1	0	0	0	0	0	4783	816	29	0	7225	0	DSP	6	7584626	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J3-01A-12D-A382-10	42418	7584626	163530441	50	303	4	2									
DSP	1832	hgsc.bcm.edu	37	6	7584627	7584627	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr6:7584627A>T	ENST00000379802.3	+	24	7473	c.7132A>T	c.(7132-7134)Att>Ttt	p.I2378F	DSP_ENST00000418664.2_Missense_Mutation_p.I1779F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2378	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGGGGGGATCATTGACCCAAA	0.448																																																0													76	75	75					6																	7584627		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7132A>T	chr6.hg19:g.7584627A>T	ENSP00000369129:p.Ile2378Phe		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991459	0.74703	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.79749	-1.3;-1.3	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000005	D	0.89030	0.6599	M	0.87328	2.875	0.41548	D	0.988558	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89707	0.3909	10	0.45353	T	0.12	.	15.7802	0.78255	1.0:0.0:0.0:0.0	.	1826;2378	Q4LE79;P15924	.;DESP_HUMAN	F	2378;1779	ENSP00000369129:I2378F;ENSP00000396591:I1779F	ENSP00000369129:I2378F	I	+	1	0	DSP	7529626	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.301000	0.96167	2.127000	0.65507	0.533000	0.62120	ATT		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7584627	A	T	7584627	3	4	4	1	0	0	0	0	1	0	0	0	4783	217	8	5	7226	5	DSP	6	7584627	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	1	7584627	163530440	51	304	4	2									
GCNT2	2651	hgsc.bcm.edu	37	6	10529857	10529857	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr6:10529857A>C	ENST00000379597.3	+	1	1269	c.713A>C	c.(712-714)aAc>aCc	p.N238T	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.N238T|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	238					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAACTGTTAAACCACAAAAAT	0.448																																																0													75	78	77					6																	10529857		2202	4300	6502	SO:0001583	missense	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.713A>C	chr6.hg19:g.10529857A>C	ENSP00000368917:p.Asn238Thr			Missense_Mutation	SNP	ENST00000379597.3	hg19	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	A	1.996	-0.430677	0.04669	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.09723	2.95;2.95	5.6	-5.91	0.02269	.	1.868580	0.02099	N	0.053783	T	0.00875	0.0029	N	0.02765	-0.5	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.40961	-0.9535	10	0.10636	T	0.68	-17.1412	3.8801	0.09074	0.5225:0.0949:0.2781:0.1045	.	238;237	Q8N0V5;Q08M29	GNT2A_HUMAN;.	T	238	ENSP00000419411:N238T;ENSP00000368917:N238T	ENSP00000368917:N238T	N	+	2	0	GCNT2	10637843	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.109000	0.15417	-0.665000	0.05317	0.519000	0.50382	AAC		0.448	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		C	10529857	A	C	10529857	3	2	4	1	0	0	0	0	1	0	0	0	6303	43	2	5	715	5	GCNT2	6	10529857	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	2945230	10529857	160585210	52	305											
OR2J3	442186	hgsc.bcm.edu	37	6	29080095	29080095	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr6:29080095T>G	ENST00000377169.1	+	1	428	c.428T>G	c.(427-429)tTc>tGc	p.F143C		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CACCCTCGTTTCTGCCACCTG	0.522																																																0													370	396	387					6																	29080095		1387	2633	4020	SO:0001583	missense	442186				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.428T>G	chr6.hg19:g.29080095T>G	ENSP00000366374:p.Phe143Cys		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	hg19	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313785	0.40996	.	.	ENSG00000204701	ENST00000377169	T	0.00036	8.86	2.78	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	L	0.37850	1.14	0.21782	N	0.999544	P	0.51933	0.949	P	0.56343	0.796	T	0.04855	-1.0922	9	0.87932	D	0	.	6.8216	0.23861	0.2081:0.0:0.0:0.7919	.	143	O76001	OR2J3_HUMAN	C	143	ENSP00000366374:F143C	ENSP00000366374:F143C	F	+	2	0	OR2J3	29188074	0.000000	0.05858	0.855000	0.33649	0.771000	0.43674	0.608000	0.24223	1.268000	0.44264	0.358000	0.22013	TTC		0.522	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			G	29080095	T	G	29080095	3	3	4	1	0	0	0	0	1	0	0	0	11006	1783	62	5	430	5	OR2J3	6	29080095	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	18550238	29080095	142034972	53	306											
MDC1	9656	hgsc.bcm.edu	37	6	30680834	30680834	+	Silent	SNP	A	A	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr6:30680834A>C	ENST00000376406.3	-	5	1532	c.885T>G	c.(883-885)ccT>ccG	p.P295P	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.P295P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	295	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGTCCTCTCCAGGAGGTTGGC	0.542								Other conserved DNA damage response genes																																								0													146	124	132					6																	30680834		1511	2709	4220	SO:0001819	synonymous_variant	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.885T>G	chr6.hg19:g.30680834A>C			A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	hg19	CCDS34384.1																																																																																				0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		C	30680834	A	C	30680834	2	2	4	1	0	0	0	0	0	0	0	1	9405	175	7	5		5	MDC1	6	30680834	Silent	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	1600739	30680834	140434233	54	307											
C6orf153	88745	hgsc.bcm.edu	37	6	42989441	42989441	+	Nonsense_Mutation	SNP	C	C	T	rs202053592	byFrequency	TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr6:42989441C>T	ENST00000244496.5	+	1	59	c.49C>T	c.(49-51)Cga>Tga	p.R17*		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	17					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						ggccggggcccgacgtccccg	0.776																																																0													2	2	2					6																	42989441		866	1798	2664	SO:0001587	stop_gained	88745			BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"chromosome 6 open reading frame 153"	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.49C>T	chr6.hg19:g.42989441C>T	ENSP00000244496:p.Arg17*		Q9BRF6|Q9P0C8	Nonsense_Mutation	SNP	ENST00000244496.5	hg19	CCDS34453.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442813	0.43326	.	.	ENSG00000124541	ENST00000244496	.	.	.	3.24	-0.816	0.10839	.	0.576146	0.10077	U	0.718890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	2.3532	0.04289	0.1591:0.2847:0.4261:0.13	.	.	.	.	X	17	.	ENSP00000244496:R17X	R	+	1	2	RRP36	43097419	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.257000	0.08745	-0.199000	0.10317	-0.339000	0.08088	CGA		0.776	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		T	42989441	C	T	42989441	4	4	4	1	0	0	0	0	0	1	0	0	2340	644	23	1	51	1	C6orf153	6	42989441	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	12308607	42989441	128125626	55	308											
DLK2	65989	hgsc.bcm.edu	37	6	43418926	43418926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr6:43418926delC	ENST00000357338.3	-	6	1203	c.503delG	c.(502-504)ggtfs	p.G168fs	DLK2_ENST00000372488.3_Frame_Shift_Del_p.G168fs|DLK2_ENST00000372485.1_Frame_Shift_Del_p.G162fs|DLK2_ENST00000414245.1_Frame_Shift_Del_p.G162fs	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	168	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.G168D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACAGCGGGCACCCACAAAGCC	0.612																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											80	57	65					6																	43418926		2203	4300	6503	SO:0001589	frameshift_variant	65989			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.503delG	chr6.hg19:g.43418926delC	ENSP00000349893:p.Gly168fs		B3KNZ7|Q5T3T8|Q9BQ54	Frame_Shift_Del	DEL	ENST00000357338.3	hg19	CCDS4897.1																																																																																				0.612	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		-	43418926	C	-	43418926	7	5	4	1	0	1	0	1	0	0	0	0	4567	507	18	0	652	0	DLK2	6	43418926	Frame_Shift_Del	DEL	C	TCGA-2Z-A9J3-01A-12D-A382-10	429485	43418926	127696141	56	309											
HIVEP2	3097	hgsc.bcm.edu	37	6	143094459	143094459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr6:143094459delC	ENST00000367604.1	-	4	2056	c.1417delG	c.(1417-1419)gatfs	p.D473fs	HIVEP2_ENST00000012134.2_Frame_Shift_Del_p.D473fs|HIVEP2_ENST00000367603.2_Frame_Shift_Del_p.D473fs			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAAACAGGATCTTCAAACATC	0.483																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											0													138	135	136					6																	143094459		2033	4190	6223	SO:0001589	frameshift_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1417delG	chr6.hg19:g.143094459delC	ENSP00000356576:p.Asp473fs		Q02646|Q5THT5|Q9NS05	Frame_Shift_Del	DEL	ENST00000367604.1	hg19	CCDS43510.1																																																																																				0.483	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			-	143094459	C	-	143094459	7	5	4	1	0	1	0	1	0	0	0	0	7189	913	32	0	5947	0	HIVEP2	6	143094459	Frame_Shift_Del	DEL	C	TCGA-2Z-A9J3-01A-12D-A382-10	99675533	143094459	28020608	57	310											
PHKG1	5260	hgsc.bcm.edu	37	7	56155338	56155338	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr7:56155338A>G	ENST00000297373.2	-	3	409	c.215T>C	c.(214-216)cTg>cCg	p.L72P	PHKG1_ENST00000537360.1_Silent_p.A36A|PHKG1_ENST00000452681.2_Missense_Mutation_p.L72P|PHKG1_ENST00000489604.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACCTCCTTCAGCGTGGCTTC	0.647																																					Melanoma(184;580 2064 5329 24177 35303)											0													76	51	60					7																	56155338		2203	4300	6503	SO:0001583	missense	5260			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.215T>C	chr7.hg19:g.56155338A>G	ENSP00000297373:p.Leu72Pro		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	hg19	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.095532	0.36952	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	T;T	0.46063	3.1;0.88	5.42	4.25	0.50352	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.606658	0.14620	N	0.308456	T	0.44307	0.1287	L	0.60957	1.885	0.80722	D	1	B;B;P	0.45827	0.082;0.451;0.867	B;B;P	0.48901	0.287;0.273;0.594	T	0.26360	-1.0105	10	0.36615	T	0.2	-17.4861	5.7614	0.18203	0.7557:0.0:0.086:0.1583	.	72;72;72	B7Z6U2;F5H2S1;Q16816	.;.;PHKG1_HUMAN	P	72	ENSP00000445440:L72P;ENSP00000297373:L72P	ENSP00000297373:L72P	L	-	2	0	PHKG1	56122832	0.997000	0.39634	0.998000	0.56505	0.790000	0.44656	3.544000	0.53640	0.981000	0.38548	0.460000	0.39030	CTG		0.647	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		G	56155338	A	G	56155338	3	3	4	1	0	0	0	0	1	0	0	0	11848	188	7	3	980	3	PHKG1	7	56155338	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10		56155338	102983325	58	311											
BAZ1B	9031	hgsc.bcm.edu	37	7	72856678	72856678	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr7:72856678G>C	ENST00000339594.4	-	19	4638	c.4300C>G	c.(4300-4302)Cag>Gag	p.Q1434E	BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q1434E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1434					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACTAGACACTGTTCTGTCTTC	0.493																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											0													139	124	129					7																	72856678		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4300C>G	chr7.hg19:g.72856678G>C	ENSP00000342434:p.Gln1434Glu		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	hg19	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030593	0.35797	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.17213	2.29;2.29	5.54	4.63	0.57726	Bromodomain (3);	0.184208	0.49305	N	0.000149	T	0.14485	0.0350	L	0.29908	0.895	0.41806	D	0.989949	B	0.02656	0.0	B	0.04013	0.001	T	0.03139	-1.1068	10	0.35671	T	0.21	-23.1276	15.2408	0.73468	0.0:0.1411:0.8589:0.0	.	1434	Q9UIG0	BAZ1B_HUMAN	E	1434	ENSP00000342434:Q1434E;ENSP00000385442:Q1434E	ENSP00000342434:Q1434E	Q	-	1	0	BAZ1B	72494614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.883000	0.69721	1.266000	0.44231	0.643000	0.83706	CAG		0.493	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		C	72856678	G	C	72856678	3	2	4	1	0	0	0	0	1	0	0	0	1330	1386	48	4	155	4	BAZ1B	7	72856678	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	16701340	72856678	86281985	59	312											
CLIP2	7461	hgsc.bcm.edu	37	7	73752959	73752959	+	Silent	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr7:73752959G>A	ENST00000395060.1	+	2	303	c.303G>A	c.(301-303)acG>acA	p.T101T	CLIP2_ENST00000223398.6_Silent_p.T101T|CLIP2_ENST00000361545.5_Silent_p.T101T			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	101	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGGAGAGACGCAGTTCGCAC	0.687																																																0													60	47	51					7																	73752959		2177	4269	6446	SO:0001819	synonymous_variant	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.303G>A	chr7.hg19:g.73752959G>A			O14527|O43611	Silent	SNP	ENST00000395060.1	hg19	CCDS5569.1																																																																																				0.687	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		A	73752959	G	A	73752959	2	1	4	1	0	0	0	0	0	0	0	1	3535	1074	38	1		1	CLIP2	7	73752959	Silent	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	896281	73752959	85385704	60	313											
AKAP9	10142	hgsc.bcm.edu	37	7	91624968	91624968	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr7:91624968G>A	ENST00000359028.2	+	8	1045	c.820G>A	c.(820-822)Gac>Aac	p.D274N	AKAP9_ENST00000356239.3_Missense_Mutation_p.D262N|AKAP9_ENST00000358100.2_Missense_Mutation_p.D274N|AKAP9_ENST00000394564.1_Missense_Mutation_p.D262N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	274	Gln-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CACAGCTGCAGACTTACTACA	0.378			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													96	86	89					7																	91624968		2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.820G>A	chr7.hg19:g.91624968G>A	ENSP00000351922:p.Asp274Asn		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	hg19		.	.	.	.	.	.	.	.	.	.	G	24.2	4.506910	0.85282	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.1	5.1	0.69264	.	0.000000	0.43110	D	0.000602	T	0.49525	0.1562	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.997	D;D;D;D	0.80764	0.994;0.986;0.993;0.942	T	0.53697	-0.8402	10	0.72032	D	0.01	.	18.8833	0.92365	0.0:0.0:1.0:0.0	.	262;262;274;262	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	N	262;274;274;274;274;262;213	ENSP00000348573:D262N;ENSP00000351922:D274N;ENSP00000350813:D274N;ENSP00000378065:D262N;ENSP00000391704:D213N	ENSP00000348573:D262N	D	+	1	0	AKAP9	91462904	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.602000	0.90868	2.535000	0.85469	0.655000	0.94253	GAC		0.378	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		A	91624968	G	A	91624968	3	1	4	1	0	0	0	0	1	0	0	0	459	942	33	2	810	2	AKAP9	7	91624968	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	17872009	91624968	67513695	61	314											
PEX1	5189	hgsc.bcm.edu	37	7	92147296	92147296	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr7:92147296T>C	ENST00000248633.4	-	5	628	c.533A>G	c.(532-534)cAg>cGg	p.Q178R	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.Q178R|PEX1_ENST00000541751.1_5'Flank	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	178					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGTCTTTGGCTGAATAAGGAG	0.383																																																0													53	57	55					7																	92147296		2158	4289	6447	SO:0001583	missense	5189			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.533A>G	chr7.hg19:g.92147296T>C	ENSP00000248633:p.Gln178Arg		A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	hg19	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.505840	0.26949	.	.	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.94417	-3.37;-3.42	5.84	0.871	0.19107	Peroxisome biogenesis factor 1, N-terminal (1);	0.673780	0.16046	N	0.232189	D	0.86209	0.5878	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.72972	-0.4129	10	0.25751	T	0.34	-2.6037	1.138	0.01759	0.1586:0.3287:0.1645:0.3482	.	178	O43933	PEX1_HUMAN	R	178	ENSP00000248633:Q178R;ENSP00000394413:Q178R	ENSP00000248633:Q178R	Q	-	2	0	PEX1	91985232	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	1.064000	0.30579	0.122000	0.18314	0.528000	0.53228	CAG		0.383	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		C	92147296	T	C	92147296	3	2	4	1	0	0	0	0	1	0	0	0	11737	1580	55	3	3398	3	PEX1	7	92147296	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	522328	92147296	66991367	62	315											
MTFR1	9650	hgsc.bcm.edu	37	8	66617006	66617006	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr8:66617006T>C	ENST00000262146.4	+	5	485	c.359T>C	c.(358-360)tTa>tCa	p.L120S	MTFR1_ENST00000458689.2_Missense_Mutation_p.L87S|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	120					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			CAGATTTCCTTACCAGACTTG	0.507																																																0													74	74	74					8																	66617006		2203	4300	6503	SO:0001583	missense	9650				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.359T>C	chr8.hg19:g.66617006T>C	ENSP00000262146:p.Leu120Ser		E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	hg19	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.66|14.66	2.602219|2.602219	0.46423|0.46423	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689|ENST00000518800	T;T|.	0.46063|.	0.88;0.88|.	5.39|5.39	1.66|1.66	0.24008|0.24008	.|.	0.233115|.	0.35838|.	N|.	0.002944|.	T|T	0.61924|0.61924	0.2386|0.2386	M|M	0.66439|0.66439	2.03|2.03	0.37434|0.37434	D|D	0.914169|0.914169	B;B;P;B|.	0.34977|.	0.097;0.345;0.478;0.095|.	B;B;B;B|.	0.41813|.	0.063;0.367;0.305;0.094|.	T|T	0.60855|0.60855	-0.7180|-0.7180	10|5	0.28530|.	T|.	0.3|.	-0.7048|-0.7048	9.3755|9.3755	0.38281|0.38281	0.0:0.1972:0.0:0.8028|0.0:0.1972:0.0:0.8028	.|.	120;104;87;120|.	B4E3G8;E5RJS5;E7EP84;Q15390|.	.;.;.;MTFR1_HUMAN|.	S|H	104;120;87|78	ENSP00000262146:L120S;ENSP00000391502:L87S|.	ENSP00000262146:L120S|.	L|Y	+|+	2|1	0|0	MTFR1|MTFR1	66779560|66779560	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.943000|0.943000	0.58893|0.58893	3.364000|3.364000	0.52328|0.52328	0.042000|0.042000	0.15717|0.15717	0.460000|0.460000	0.39030|0.39030	TTA|TAC		0.507	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		C	66617006	T	C	66617006	3	2	4	1	0	0	0	0	1	0	0	0	9927	1764	61	3	373	3	MTFR1	8	66617006	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10		66617006	79747016	63	316											
MMP16	4325	hgsc.bcm.edu	37	8	89068476	89068476	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr8:89068476G>A	ENST00000286614.6	-	8	1534	c.1253C>T	c.(1252-1254)aCt>aTt	p.T418I		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	418					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AGGTTGAAGAGTTGTATCCTT	0.368																																																0													92	88	90					8																	89068476		2203	4300	6503	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1253C>T	chr8.hg19:g.89068476G>A	ENSP00000286614:p.Thr418Ile		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	hg19	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381730	0.42207	.	.	ENSG00000156103	ENST00000286614	T	0.02863	4.13	5.91	5.91	0.95273	Hemopexin/matrixin (2);	0.310233	0.39274	N	0.001410	T	0.04724	0.0128	L	0.33189	0.99	0.58432	D	0.99999	B	0.20052	0.041	B	0.29077	0.098	T	0.53913	-0.8371	10	0.33141	T	0.24	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	418	P51512	MMP16_HUMAN	I	418	ENSP00000286614:T418I	ENSP00000286614:T418I	T	-	2	0	MMP16	89137592	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.781000	0.62389	2.793000	0.96121	0.655000	0.94253	ACT		0.368	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		A	89068476	G	A	89068476	3	1	4	1	0	0	0	0	1	0	0	0	9657	1029	36	2	582	2	MMP16	8	89068476	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	22451470	89068476	57295546	64	317											
ZNF517	340385	hgsc.bcm.edu	37	8	146033121	146033121	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr8:146033121T>C	ENST00000531720.1	+	4	865	c.820T>C	c.(820-822)Tcc>Ccc	p.S274P	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.S274P			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CAGCCGCAGCTCCCGGCTGCT	0.692																																																0													21	23	23					8																	146033121		2201	4297	6498	SO:0001583	missense	340385			AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.820T>C	chr8.hg19:g.146033121T>C	ENSP00000436103:p.Ser274Pro			Missense_Mutation	SNP	ENST00000531720.1	hg19	CCDS6434.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.930921	0.52866	.	.	ENSG00000197363	ENST00000359971;ENST00000531720	T;T	0.08102	3.13;3.13	2.08	2.08	0.27032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14141	0.0342	M	0.65975	2.015	0.20196	N	0.999927	D	0.61080	0.989	P	0.50590	0.645	T	0.13818	-1.0495	9	0.66056	D	0.02	.	4.8554	0.13557	0.4587:0.0:0.0:0.5413	.	274	Q6ZMY9	ZN517_HUMAN	P	274	ENSP00000353058:S274P;ENSP00000436103:S274P	ENSP00000353058:S274P	S	+	1	0	ZNF517	146003925	0.000000	0.05858	0.981000	0.43875	0.745000	0.42441	-2.135000	0.01306	0.947000	0.37659	0.379000	0.24179	TCC		0.692	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		C	146033121	T	C	146033121	3	2	4	1	0	0	0	0	1	0	0	0	17966	1551	54	3	834	3	ZNF517	8	146033121	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	56964645	146033121	330901	65	318											
DDX58	23586	hgsc.bcm.edu	37	9	32466289	32466289	+	Splice_Site	DEL	T	T	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr9:32466289delT	ENST00000379883.2	-	16	2493	c.2336delA	c.(2335-2337)aag>ag	p.K779fs	DDX58_ENST00000379882.1_Splice_Site_p.K734fs|DDX58_ENST00000379868.1_Splice_Site_p.K576fs|DDX58_ENST00000542096.1_Splice_Site_p.K708fs	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	779	Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TAGACTTACCTTTTCCCTAAA	0.348																																																0													194	182	186					9																	32466289		2203	4300	6503	SO:0001630	splice_region_variant	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2337+1A>-	chr9.hg19:g.32466289delT			A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Frame_Shift_Del	DEL	ENST00000379883.2	hg19	CCDS6526.1																																																																																				0.348	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314	Frame_Shift_Del	-	32466289	T	-	32466289	8	5	4	1	0	1	0	1	0	0	1	0	4377	1623	56	0	453	0	DDX58	9	32466289	Splice_Site	DEL	T	TCGA-2Z-A9J3-01A-12D-A382-10		32466289	108747142	66	319											
PTPN3	5774	hgsc.bcm.edu	37	9	112145801	112145801	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr9:112145801G>T	ENST00000374541.2	-	23	2388	c.2284C>A	c.(2284-2286)Ccc>Acc	p.P762T	PTPN3_ENST00000262539.3_Missense_Mutation_p.P608T|PTPN3_ENST00000394827.3_Missense_Mutation_p.P230T|PTPN3_ENST00000412145.1_Missense_Mutation_p.P631T|PTPN3_ENST00000446349.1_Missense_Mutation_p.P586T	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	762	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATGACGTCGGGGGGATCTGGC	0.557																																																0													126	118	121					9																	112145801		2203	4300	6503	SO:0001583	missense	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2284C>A	chr9.hg19:g.112145801G>T	ENSP00000363667:p.Pro762Thr		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	hg19	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	8.494	0.862742	0.17178	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	4.75	3.82	0.43975	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.053687	0.85682	N	0.000000	D	0.82949	0.5148	N	0.21194	0.64	0.58432	D	0.999999	D;B;B	0.89917	1.0;0.057;0.034	D;B;B	0.91635	0.999;0.083;0.032	T	0.77879	-0.2423	10	0.12103	T	0.63	.	14.3098	0.66407	0.0:0.0:0.8503:0.1497	.	608;717;762	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	T	762;631;586;762;230;608	ENSP00000416654:P631T;ENSP00000395384:P586T;ENSP00000363667:P762T;ENSP00000378304:P230T;ENSP00000262539:P608T	ENSP00000262539:P608T	P	-	1	0	PTPN3	111185622	1.000000	0.71417	0.840000	0.33206	0.135000	0.20990	7.828000	0.86729	1.080000	0.41073	0.462000	0.41574	CCC		0.557	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			T	112145801	G	T	112145801	3	4	4	1	0	0	0	0	1	0	0	0	12795	1232	43	4	473	4	PTPN3	9	112145801	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	79679512	112145801	29067630	67	320											
NUP188	23511	hgsc.bcm.edu	37	9	131731688	131731688	+	Silent	SNP	T	T	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr9:131731688T>C	ENST00000372577.2	+	10	828	c.807T>C	c.(805-807)agT>agC	p.S269S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	269					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTACTTCAGTGCCCTCATCC	0.423																																																0													138	115	123					9																	131731688		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.807T>C	chr9.hg19:g.131731688T>C			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	hg19	CCDS35156.1																																																																																				0.423	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			C	131731688	T	C	131731688	2	2	4	1	0	0	0	0	0	0	0	1	10760	1693	59	3		3	NUP188	9	131731688	Silent	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	19585887	131731688	9481743	68	321											
NUP214	8021	hgsc.bcm.edu	37	9	134073449	134073453	+	Frame_Shift_Del	DEL	CAGCC	CAGCC	-	rs368154028		TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	CAGCC	CAGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr9:134073449_134073453delCAGCC	ENST00000359428.5	+	29	4712_4716	c.4568_4572delCAGCC	c.(4567-4572)tcagccfs	p.SA1523fs	NUP214_ENST00000451030.1_Frame_Shift_Del_p.SA1524fs|NUP214_ENST00000411637.2_Frame_Shift_Del_p.SA1513fs|NUP214_ENST00000483497.2_Frame_Shift_Del_p.SA349fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1523	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAGCAACAGTCAGCCCAGCTTCCCC	0.537			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0																																										SO:0001589	frameshift_variant	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4568_4572delCAGCC	chr9.hg19:g.134073449_134073453delCAGCC	ENSP00000352400:p.Ser1523fs		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Del	DEL	ENST00000359428.5	hg19	CCDS6940.1																																																																																				0.537	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		-	134073453	CAGCC	-	134073449	7	5	4	1	0	1	0	1	0	0	0	0	10764	838	29	0	4682	0	NUP214	9	134073449	Frame_Shift_Del	DEL	CAGCC	TCGA-2Z-A9J3-01A-12D-A382-10	2341761	134073449	7139982	69	322											
PTPLA	9200	hgsc.bcm.edu	37	10	17645619	17645619	+	Silent	SNP	A	A	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr10:17645619A>T	ENST00000361271.3	-	4	460	c.423T>A	c.(421-423)acT>acA	p.T141T		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	141					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CTTGGACCCCAGTCACAATCA	0.353																																																0													90	84	86					10																	17645619		2203	4300	6503	SO:0001819	synonymous_variant	9200			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.423T>A	chr10.hg19:g.17645619A>T			B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Silent	SNP	ENST00000361271.3	hg19	CCDS7121.1																																																																																				0.353	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		T	17645619	A	T	17645619	2	4	4	1	0	0	0	0	0	0	0	1	12780	175	7	5		5	PTPLA	10	17645619	Silent	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10		17645619	117889128	70	323											
OGDHL	55753	hgsc.bcm.edu	37	10	50944091	50944100	+	Frame_Shift_Del	DEL	GGATGGTCAT	GGATGGTCAT	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	GGATGGTCAT	GGATGGTCAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr10:50944091_50944100delGGATGGTCAT	ENST00000374103.4	-	22	2963_2972	c.2878_2887delATGACCATCC	c.(2878-2889)atgaccatcctgfs	p.MTIL960fs	OGDHL_ENST00000419399.1_Frame_Shift_Del_p.MTIL903fs|OGDHL_ENST00000432695.1_Frame_Shift_Del_p.MTIL751fs|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	960					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCGCGCCTCAGGATGGTCATGAAGCGTGGG	0.605																																																0																																										SO:0001589	frameshift_variant	55753			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2878_2887delATGACCATCC	chr10.hg19:g.50944091_50944100delGGATGGTCAT	ENSP00000363216:p.Met960fs		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Frame_Shift_Del	DEL	ENST00000374103.4	hg19	CCDS7234.1																																																																																				0.605	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		-	50944100	GGATGGTCAT	-	50944091	7	5	4	1	0	1	0	1	0	0	0	0	10842	991	35	0	153	0	OGDHL	10	50944091	Frame_Shift_Del	DEL	GGATGGTCAT	TCGA-2Z-A9J3-01A-12D-A382-10	33298472	50944091	84590656	71	324											
PYROXD2	84795	hgsc.bcm.edu	37	10	100147000	100147001	+	Frame_Shift_Del	DEL	GA	GA	-	rs376868556		TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr10:100147000_100147001delGA	ENST00000370575.4	-	14	1559_1560	c.1511_1512delTC	c.(1510-1512)ctcfs	p.L504fs	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	504							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTGGTGGTGTGAGGATGTCTCT	0.52																																																0																																										SO:0001589	frameshift_variant	84795			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1511_1512delTC	chr10.hg19:g.100147000_100147001delGA	ENSP00000359607:p.Leu504fs		D3DR61|Q5TAA9|Q9BRQ1	Frame_Shift_Del	DEL	ENST00000370575.4	hg19	CCDS7474.1																																																																																				0.52	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		-	100147001	GA	-	100147000	7	5	4	1	0	1	0	1	0	0	0	0	12873	1277	45	0	245	0	PYROXD2	10	100147000	Frame_Shift_Del	DEL	GA	TCGA-2Z-A9J3-01A-12D-A382-10	49202909	100147000	35387747	72	325											
GBF1	8729	hgsc.bcm.edu	37	10	104018748	104018748	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr10:104018748G>T	ENST00000369983.3	+	2	313	c.53G>T	c.(52-54)gGg>gTg	p.G18V	AL160011.1_ENST00000516180.2_RNA	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	18					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATTGTGGTTGGGGCCATCAAA	0.403																																																0													138	147	144					10																	104018748		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.53G>T	chr10.hg19:g.104018748G>T	ENSP00000359000:p.Gly18Val		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	hg19	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445710	0.63178	.	.	ENSG00000107862	ENST00000369983	T	0.09163	3.01	5.95	5.95	0.96441	.	0.061547	0.64402	D	0.000005	T	0.10078	0.0247	N	0.12182	0.205	0.80722	D	1	P;P;P;P	0.44195	0.756;0.756;0.828;0.617	B;B;B;B	0.42062	0.374;0.283;0.217;0.173	T	0.09640	-1.0665	10	0.66056	D	0.02	-16.8934	20.3931	0.98965	0.0:0.0:1.0:0.0	.	18;18;18;18	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	V	18	ENSP00000359000:G18V	ENSP00000359000:G18V	G	+	2	0	GBF1	104008738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.804000	0.75186	2.824000	0.97209	0.655000	0.94253	GGG		0.403	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			T	104018748	G	T	104018748	3	4	4	1	0	0	0	0	1	0	0	0	6273	1232	43	4	55	4	GBF1	10	104018748	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	3871748	104018748	31515999	73	326											
SORCS3	22986	hgsc.bcm.edu	37	10	107016678	107016678	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr10:107016678delA	ENST00000369701.3	+	25	3666	c.3439delA	c.(3439-3441)aaafs	p.K1147fs		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1147					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTACAAGTTTAAAAGGTATGT	0.413																																					NSCLC(116;1497 1690 7108 13108 14106)											0													145	124	131					10																	107016678		2203	4300	6503	SO:0001589	frameshift_variant	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3439delA	chr10.hg19:g.107016678delA	ENSP00000358715:p.Lys1147fs		Q5VXF9|Q9NQJ2	Frame_Shift_Del	DEL	ENST00000369701.3	hg19	CCDS7558.1																																																																																				0.413	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		-	107016678	A	-	107016678	7	5	4	1	0	1	0	1	0	0	0	0	14938	363	13	0	3537	0	SORCS3	10	107016678	Frame_Shift_Del	DEL	A	TCGA-2Z-A9J3-01A-12D-A382-10	2997930	107016678	28518069	74	327											
PTPRE	5791	hgsc.bcm.edu	37	10	129846027	129846027	+	Splice_Site	SNP	G	G	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr10:129846027G>C	ENST00000254667.3	+	5	488		c.e5-1		PTPRE_ENST00000419012.2_Splice_Site|PTPRE_ENST00000306042.5_Splice_Site|PTPRE_ENST00000430713.2_Splice_Site|PTPRE_ENST00000471218.1_Splice_Site	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E						negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GTGTCTCTAAGGTTCAGGAAG	0.557																																					Colon(52;977 1184 20575 41685)											0													102	98	100					10																	129846027		2203	4300	6503	SO:0001630	splice_region_variant	5791			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.210-1G>C	chr10.hg19:g.129846027G>C			Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Splice_Site	SNP	ENST00000254667.3	hg19	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337182	0.81911	.	.	ENSG00000132334	ENST00000254667;ENST00000442830;ENST00000419012;ENST00000430713;ENST00000455661;ENST00000306042	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4659	0.90755	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRE	129736017	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	8.680000	0.91225	2.519000	0.84933	0.650000	0.86243	.		0.557	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1		Intron	C	129846027	G	C	129846027	5	2	4	1	0	0	0	0	0	0	1	0	12806	1014	35	4	258	4	PTPRE	10	129846027	Splice_Site	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	22829349	129846027	5688720	75	328											
DNHD1	144132	hgsc.bcm.edu	37	11	6579352	6579352	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr11:6579352C>A	ENST00000527990.2	+	23	8827	c.8827C>A	c.(8827-8829)Ctg>Atg	p.L2943M	DNHD1_ENST00000254579.6_Missense_Mutation_p.L2943M			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2943					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCCAGTGGCTCTGTTGGTACC	0.547																																																0													74	65	68					11																	6579352		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.8827C>A	chr11.hg19:g.6579352C>A	ENSP00000436180:p.Leu2943Met		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	hg19	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	1.131	-0.652479	0.03480	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210;ENST00000524401	T;T	0.32988	1.43;1.43	5.49	3.61	0.41365	.	.	.	.	.	T	0.35537	0.0935	N	0.14661	0.345	0.27084	N	0.963003	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.22173	-1.0224	9	0.29301	T	0.29	.	11.372	0.49704	0.0:0.851:0.0:0.149	.	2943;690	Q96M86;E9PHZ7	DNHD1_HUMAN;.	M	2943;2943;690;8	ENSP00000254579:L2943M;ENSP00000436180:L2943M	ENSP00000254579:L2943M	L	+	1	2	DNHD1	6535928	0.729000	0.28090	0.197000	0.23402	0.007000	0.05969	0.773000	0.26661	0.670000	0.31165	0.650000	0.86243	CTG		0.547	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6579352	C	A	6579352	3	1	4	1	0	0	0	0	1	0	0	0	4670	912	32	4	8926	4	DNHD1	11	6579352	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10		6579352	128427164	76	329											
PPFIBP2	8495	hgsc.bcm.edu	37	11	7672127	7672127	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr11:7672127G>T	ENST00000299492.4	+	22	2566	c.2178G>T	c.(2176-2178)tgG>tgT	p.W726C	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.W568C|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.W583C|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.W614C|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	726	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGATGGAGTGGTTACGATCTG	0.532																																																0													207	179	188					11																	7672127		2201	4296	6497	SO:0001583	missense	8495			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2178G>T	chr11.hg19:g.7672127G>T	ENSP00000299492:p.Trp726Cys		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	hg19	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326893	0.41197	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.35	4.43	0.53597	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000003	D	0.96836	0.8967	M	0.93898	3.47	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.998;0.999	D	0.97670	1.0166	10	0.87932	D	0	-9.916	13.4534	0.61184	0.0:0.0:0.842:0.158	.	614;614;649;568;583;726	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	C	726;67;568;649;614;583	ENSP00000299492:W726C;ENSP00000436498:W568C;ENSP00000435469:W614C;ENSP00000437321:W583C	ENSP00000299492:W726C	W	+	3	0	PPFIBP2	7628703	1.000000	0.71417	0.998000	0.56505	0.017000	0.09413	9.601000	0.98297	1.607000	0.50170	-0.181000	0.13052	TGG		0.532	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		T	7672127	G	T	7672127	3	4	4	1	0	0	0	0	1	0	0	0	12316	1270	44	4	2260	4	PPFIBP2	11	7672127	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	1092775	7672127	127334389	77	330											
OR5P2	120065	hgsc.bcm.edu	37	11	7818479	7818479	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr11:7818479A>C	ENST00000329434.2	-	1	41	c.11T>G	c.(10-12)cTg>cGg	p.L4R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCGTCCTTCAGGGAATTCAT	0.408																																																0													47	55	53					11																	7818479		2095	4291	6386	SO:0001583	missense	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.11T>G	chr11.hg19:g.7818479A>C	ENSP00000331823:p.Leu4Arg		Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	hg19	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989773	0.54041	.	.	ENSG00000183303	ENST00000329434	T	0.00145	8.67	5.2	-5.77	0.02369	.	0.363029	0.22658	N	0.057223	T	0.00144	0.0004	L	0.39898	1.24	0.19300	N	0.999978	P	0.44776	0.843	P	0.50970	0.655	T	0.52697	-0.8541	10	0.87932	D	0	5.2615	0.7576	0.01001	0.2152:0.2208:0.1453:0.4188	.	4	Q8WZ92	OR5P2_HUMAN	R	4	ENSP00000331823:L4R	ENSP00000331823:L4R	L	-	2	0	OR5P2	7775055	0.001000	0.12720	0.014000	0.15608	0.001000	0.01503	0.470000	0.22084	-0.713000	0.04981	-0.531000	0.04308	CTG		0.408	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		C	7818479	A	C	7818479	3	2	4	1	0	0	0	0	1	0	0	0	11180	188	7	5	961	5	OR5P2	11	7818479	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	146352	7818479	127188037	78	331											
CAT	847	hgsc.bcm.edu	37	11	34475367	34475367	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr11:34475367A>C	ENST00000241052.4	+	6	694	c.605A>C	c.(604-606)gAt>gCt	p.D202A		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	202					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTGTTCAGTGATCGGGGGATT	0.353																																																0													111	105	107					11																	34475367		2202	4298	6500	SO:0001583	missense	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.605A>C	chr11.hg19:g.34475367A>C	ENSP00000241052:p.Asp202Ala		A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	hg19	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420175	0.62622	.	.	ENSG00000121691	ENST00000241052	D	0.93426	-3.22	5.84	5.84	0.93424	Catalase domain (1);Catalase, N-terminal (2);	0.046947	0.85682	D	0.000000	D	0.98143	0.9387	H	0.99404	4.55	0.80722	D	1	D	0.63880	0.993	D	0.66351	0.943	D	0.99081	1.0837	10	0.87932	D	0	-36.6195	13.2555	0.60076	0.8681:0.1319:0.0:0.0	.	202	P04040	CATA_HUMAN	A	202	ENSP00000241052:D202A	ENSP00000241052:D202A	D	+	2	0	CAT	34431943	1.000000	0.71417	0.940000	0.37924	0.519000	0.34347	9.339000	0.96797	2.232000	0.73038	0.533000	0.62120	GAT		0.353	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		C	34475367	A	C	34475367	3	2	4	1	0	0	0	0	1	0	0	0	2688	333	12	5	627	5	CAT	11	34475367	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	26656888	34475367	100531149	79	332											
EXT2	2132	hgsc.bcm.edu	37	11	44129381	44129381	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr11:44129381C>T	ENST00000343631.3	+	2	248	c.119C>T	c.(118-120)aCt>aTt	p.T40I	EXT2_ENST00000533608.1_Missense_Mutation_p.T40I|EXT2_ENST00000358681.4_Missense_Mutation_p.T40I|EXT2_ENST00000395673.3_Missense_Mutation_p.T73I			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	40					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTCATTGCCACTGGCATGTTT	0.512			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0													160	166	164					11																	44129381		2203	4300	6503	SO:0001583	missense	2132	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.119C>T	chr11.hg19:g.44129381C>T	ENSP00000342656:p.Thr40Ile		B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	hg19	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071234	0.55646	.	.	ENSG00000151348	ENST00000533608;ENST00000532479;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	L	0.27053	0.805	0.80722	D	1	P;P;D;P;P	0.53885	0.954;0.938;0.963;0.873;0.873	P;B;P;B;B	0.48921	0.541;0.391;0.595;0.293;0.293	T	0.19778	-1.0295	10	0.22706	T	0.39	-1.6238	19.302	0.94148	0.0:1.0:0.0:0.0	.	40;40;40;40;53	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	I	40;40;40;40;73;40	ENSP00000431173:T40I;ENSP00000433827:T40I;ENSP00000434716:T40I;ENSP00000351509:T40I;ENSP00000379032:T73I;ENSP00000342656:T40I	ENSP00000342656:T40I	T	+	2	0	EXT2	44085957	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	7.380000	0.79704	2.568000	0.86640	0.650000	0.86243	ACT		0.512	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		T	44129381	C	T	44129381	3	4	4	1	0	0	0	0	1	0	0	0	5326	565	20	2	224	2	EXT2	11	44129381	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	9654014	44129381	90877135	80	333											
KIAA0652	9776	hgsc.bcm.edu	37	11	46690086	46690086	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr11:46690086T>A	ENST00000434074.1	+	14	1879	c.1190T>A	c.(1189-1191)tTt>tAt	p.F397Y	ATG13_ENST00000524625.1_Missense_Mutation_p.F360Y|ATG13_ENST00000312040.4_Missense_Mutation_p.F397Y|ATG13_ENST00000528494.1_Missense_Mutation_p.F430Y|ATG13_ENST00000359513.4_Missense_Mutation_p.F397Y|ATG13_ENST00000529655.1_Missense_Mutation_p.F360Y|ATG13_ENST00000526508.1_Missense_Mutation_p.F397Y|ATG13_ENST00000530500.1_Missense_Mutation_p.F281Y|ATG13_ENST00000451945.1_Missense_Mutation_p.F360Y	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	397					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TTTGCCATGTTTGCTCCCAAG	0.512																																																0													166	147	153					11																	46690086		2201	4299	6500	SO:0001583	missense	9776			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1190T>A	chr11.hg19:g.46690086T>A	ENSP00000400642:p.Phe397Tyr		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	hg19	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669804	0.67814	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	L	0.53249	1.67	0.58432	D	0.999997	D;D;D;D	0.71674	0.995;0.997;0.998;0.997	P;D;D;D	0.78314	0.829;0.977;0.991;0.984	T	0.67573	-0.5636	9	0.11182	T	0.66	-15.6578	16.422	0.83766	0.0:0.0:0.0:1.0	.	281;397;430;360	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	Y	360;397;397;360;360;281;397;360;397;430;129	.	ENSP00000310321:F397Y	F	+	2	0	ATG13	46646662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.307000	0.78920	2.270000	0.75569	0.533000	0.62120	TTT		0.512	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		A	46690086	T	A	46690086	3	1	4	1	0	0	0	0	1	0	0	0	8190	1841	64	5	1240	5	KIAA0652	11	46690086	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	2560705	46690086	88316430	81	334											
OR5W2	390148	hgsc.bcm.edu	37	11	55682005	55682005	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr11:55682005delG	ENST00000344514.1	-	1	53	c.54delC	c.(52-54)accfs	p.T18fs		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGGGTTATTGGTAATTCCCA	0.343																																					Melanoma(48;171 1190 15239 43886 49348)											0													49	52	51					11																	55682005		2201	4296	6497	SO:0001589	frameshift_variant	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.54delC	chr11.hg19:g.55682005delG	ENSP00000342448:p.Thr18fs			Frame_Shift_Del	DEL	ENST00000344514.1	hg19	CCDS31513.1																																																																																				0.343	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		-	55682005	G	-	55682005	7	5	4	1	0	1	0	1	0	0	0	0	11187	1335	47	0	880	0	OR5W2	11	55682005	Frame_Shift_Del	DEL	G	TCGA-2Z-A9J3-01A-12D-A382-10	8991919	55682005	79324511	82	335											
SYTL2	54843	hgsc.bcm.edu	37	11	85445743	85445743	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr11:85445743G>T	ENST00000528231.1	-	6	903	c.626C>A	c.(625-627)aCt>aAt	p.T209N	SYTL2_ENST00000527523.1_Missense_Mutation_p.T161N|SYTL2_ENST00000316356.4_Missense_Mutation_p.T210N|SYTL2_ENST00000389960.4_Missense_Mutation_p.T209N|SYTL2_ENST00000524452.1_Missense_Mutation_p.T209N	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	209					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTGGATTGAAGTATCTGCGAC	0.358																																																0													94	93	94					11																	85445743		2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.626C>A	chr11.hg19:g.85445743G>T	ENSP00000431701:p.Thr209Asn		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	hg19	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	3.458	-0.110581	0.06924	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.26660	1.8;1.82;1.82;1.72;1.8	5.54	-0.768	0.11013	.	.	.	.	.	T	0.08758	0.0217	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B	0.33477	0.413;0.413;0.138;0.217;0.396	B;B;B;B;B	0.28139	0.071;0.071;0.032;0.071;0.086	T	0.25012	-1.0144	8	.	.	.	.	1.8756	0.03217	0.4894:0.1246:0.2655:0.1205	.	161;209;209;210;67	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	N	209;210;209;161;209	ENSP00000374610:T209N;ENSP00000318803:T210N;ENSP00000431701:T209N;ENSP00000434010:T161N;ENSP00000435238:T209N	.	T	-	2	0	SYTL2	85123391	0.000000	0.05858	0.287000	0.24848	0.027000	0.11550	-0.258000	0.08733	-0.286000	0.09076	-0.806000	0.03193	ACT		0.358	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		T	85445743	G	T	85445743	3	4	4	1	0	0	0	0	1	0	0	0	15488	1029	36	4	4711	4	SYTL2	11	85445743	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	29763738	85445743	49560773	83	336											
HTR3A	3359	hgsc.bcm.edu	37	11	113853914	113853914	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr11:113853914G>T	ENST00000504030.2	+	5	892	c.447G>T	c.(445-447)aaG>aaT	p.K149N	HTR3A_ENST00000355556.2_Missense_Mutation_p.K155N|HTR3A_ENST00000506841.2_Missense_Mutation_p.K149N|HTR3A_ENST00000375498.2_Missense_Mutation_p.K155N|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000299961.5_Missense_Mutation_p.K134N			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	149					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	AGAACTACAAGCCCCTTCAGG	0.542																																																0													201	180	187					11																	113853914		2201	4296	6497	SO:0001583	missense	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.447G>T	chr11.hg19:g.113853914G>T	ENSP00000424189:p.Lys149Asn		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	hg19		.	.	.	.	.	.	.	.	.	.	G	19.87	3.907299	0.72868	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.39	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.85804	0.1375	10	0.87932	D	0	-36.4163	11.5276	0.50588	0.2021:0.0:0.7979:0.0	.	134;155;155	B4DSY6;G5E986;Q7KZM7	.;.;.	N	149;155;155;149;134	ENSP00000424189:K149N;ENSP00000347754:K155N;ENSP00000364648:K155N;ENSP00000424776:K149N;ENSP00000299961:K134N	ENSP00000299961:K134N	K	+	3	2	HTR3A	113359124	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.295000	0.51794	1.278000	0.44430	0.555000	0.69702	AAG		0.542	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		T	113853914	G	T	113853914	3	4	4	1	0	0	0	0	1	0	0	0	7446	962	34	4	509	4	HTR3A	11	113853914	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	28408171	113853914	21152602	84	337											
ABCG4	64137	hgsc.bcm.edu	37	11	119025032	119025032	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr11:119025032G>T	ENST00000449422.2	+	4	607	c.419G>T	c.(418-420)cGc>cTc	p.R140L	ABCG4_ENST00000531739.1_Missense_Mutation_p.R140L|ABCG4_ENST00000307417.3_Missense_Mutation_p.R140L	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	140	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R140H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGGACCTTCCGCAAGATGTCC	0.577																																																1	Substitution - Missense(1)	endometrium(1)											107	89	95					11																	119025032		2200	4295	6495	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.419G>T	chr11.hg19:g.119025032G>T	ENSP00000406874:p.Arg140Leu		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	hg19	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170473	0.94768	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	4.89	4.89	0.63831	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.103879	0.64402	D	0.000012	D	0.94631	0.8269	M	0.78049	2.395	0.58432	D	0.999999	P	0.42296	0.775	B	0.42087	0.375	D	0.95566	0.8634	10	0.87932	D	0	-22.3413	16.9713	0.86301	0.0:0.0:1.0:0.0	.	140	Q9H172	ABCG4_HUMAN	L	140	ENSP00000304111:R140L;ENSP00000431915:R140L;ENSP00000406874:R140L;ENSP00000434318:R140L	ENSP00000304111:R140L	R	+	2	0	ABCG4	118530242	1.000000	0.71417	0.992000	0.48379	0.937000	0.57800	9.246000	0.95438	2.539000	0.85634	0.491000	0.48974	CGC		0.577	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		T	119025032	G	T	119025032	3	4	4	1	0	0	0	0	1	0	0	0	70	1087	38	4	429	4	ABCG4	11	119025032	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	5171118	119025032	15981484	85	338											
CD163L1	283316	hgsc.bcm.edu	37	12	7528025	7528025	+	Silent	SNP	T	T	C	rs368493737		TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr12:7528025T>C	ENST00000313599.3	-	11	2910	c.2853A>G	c.(2851-2853)ggA>ggG	p.G951G	CD163L1_ENST00000396630.1_Silent_p.G951G|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Silent_p.G961G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	951	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TATATTTTCCTCCTGTGGTTG	0.493																																																0								T		1,4405	2.1+/-5.4	0,1,2202	88	76	80		2853	0	0	12		80	0,8600		0,0,4300	no	coding-synonymous	CD163L1	NM_174941.4		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		951/1454	7528025	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2853A>G	chr12.hg19:g.7528025T>C			B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	hg19	CCDS8577.1																																																																																				0.493	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		C	7528025	T	C	7528025	2	2	4	1	0	0	0	0	0	0	0	1	2970	1538	54	3		3	CD163L1	12	7528025	Silent	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10		7528025	126323870	86	339											
C12orf69	440087	hgsc.bcm.edu	37	12	14959531	14959531	+	Silent	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr12:14959531G>A	ENST00000316048.2	-	2	156	c.84C>T	c.(82-84)tgC>tgT	p.C28C	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	28						integral component of membrane (GO:0016021)											TGTCAGATAAGCAATCAAGAA	0.463																																																0													88	85	86					12																	14959531		1875	4127	6002	SO:0001819	synonymous_variant	0				CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 69"	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.84C>T	chr12.hg19:g.14959531G>A			Q8NAI5	Silent	SNP	ENST00000316048.2	hg19	CCDS41759.1																																																																																				0.463	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394738.1	NM_001013698		A	14959531	G	A	14959531	2	1	4	1	0	0	0	0	0	0	0	1	1713	963	34	2		2	C12orf69	12	14959531	Silent	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	7431506	14959531	118892364	87	340											
EIF4B	1975	hgsc.bcm.edu	37	12	53432173	53432173	+	Silent	SNP	T	T	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr12:53432173T>C	ENST00000262056.9	+	12	1880	c.1554T>C	c.(1552-1554)tcT>tcC	p.S518S	EIF4B_ENST00000416762.3_Silent_p.S479S|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA|EIF4B_ENST00000420463.3_Silent_p.S523S|RP11-983P16.4_ENST00000546566.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	518					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CTCAACCATCTGAGGAAGGAC	0.408																																																0													141	138	139					12																	53432173		1865	4111	5976	SO:0001819	synonymous_variant	1975			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1554T>C	chr12.hg19:g.53432173T>C			Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Silent	SNP	ENST00000262056.9	hg19	CCDS41788.1																																																																																				0.408	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		C	53432173	T	C	53432173	2	2	4	1	0	0	0	0	0	0	0	1	5029	1567	55	3		3	EIF4B	12	53432173	Silent	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	38472642	53432173	80419722	88	341											
AVIL	10677	hgsc.bcm.edu	37	12	58201151	58201151	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr12:58201151A>T	ENST00000257861.3	-	12	1884	c.1454T>A	c.(1453-1455)tTc>tAc	p.F485Y	AVIL_ENST00000550083.1_5'Flank|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000537081.1_Missense_Mutation_p.F478Y|RNU6-1083P_ENST00000384022.1_RNA|RP11-571M6.17_ENST00000602802.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	485	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GATGGCCATGAAGTGGCGTGG	0.522																																																0													162	143	149					12																	58201151		2203	4300	6503	SO:0001583	missense	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1454T>A	chr12.hg19:g.58201151A>T	ENSP00000257861:p.Phe485Tyr		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	hg19	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.914701	0.92178	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.59083	0.29;0.29	4.77	4.77	0.60923	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	H	0.97682	4.055	0.58432	D	0.999999	D;D	0.76494	0.999;0.991	D;D	0.77004	0.989;0.938	D	0.89012	0.3429	10	0.72032	D	0.01	-23.5203	13.6731	0.62438	1.0:0.0:0.0:0.0	.	478;485	O75366-2;O75366	.;AVIL_HUMAN	Y	478;485	ENSP00000443207:F478Y;ENSP00000257861:F485Y	ENSP00000257861:F485Y	F	-	2	0	AVIL	56487418	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.010000	0.93611	2.122000	0.65172	0.459000	0.35465	TTC		0.522	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		T	58201151	A	T	58201151	3	4	4	1	0	0	0	0	1	0	0	0	1227	246	9	5	1037	5	AVIL	12	58201151	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	4768978	58201151	75650744	89	342											
FAM71C	196472	hgsc.bcm.edu	37	12	100042118	100042118	+	Silent	SNP	A	A	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr12:100042118A>C	ENST00000324341.1	+	1	588	c.166A>C	c.(166-168)Aga>Cga	p.R56R	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	56										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GATCAGCAAAAGAGGAGAAGT	0.522																																																0													147	130	136					12																	100042118		2203	4300	6503	SO:0001819	synonymous_variant	196472				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.166A>C	chr12.hg19:g.100042118A>C			B2R6Y6	Silent	SNP	ENST00000324341.1	hg19	CCDS9072.1																																																																																				0.522	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		C	100042118	A	C	100042118	2	2	4	1	0	0	0	0	0	0	0	1	5611	64	3	5		5	FAM71C	12	100042118	Silent	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	41840967	100042118	33809777	90	343											
DRAM1	55332	hgsc.bcm.edu	37	12	102271585	102271585	+	Silent	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr12:102271585G>A	ENST00000258534.8	+	1	457	c.18G>A	c.(16-18)agG>agA	p.R6R	DRAM1_ENST00000544152.1_Silent_p.R6R	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	6					apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						GCTTCCTGAGGGGAATGGCTT	0.711																																																0													52	54	53					12																	102271585		1844	3904	5748	SO:0001819	synonymous_variant	55332			BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"damage-regulated autophagy modulator"	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.18G>A	chr12.hg19:g.102271585G>A			B7Z4T0|Q7L3E3|Q9NUN1	Silent	SNP	ENST00000258534.8	hg19	CCDS41823.1																																																																																				0.711	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409195.1	NM_018370		A	102271585	G	A	102271585	2	1	4	1	0	0	0	0	0	0	0	1	4755	1223	43	2		2	DRAM1	12	102271585	Silent	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	2229467	102271585	31580310	91	344											
STAB2	55576	hgsc.bcm.edu	37	12	104031881	104031881	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr12:104031881A>G	ENST00000388887.2	+	8	1001	c.797A>G	c.(796-798)gAa>gGa	p.E266G		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACATGCCAAGAAGGCTACCGT	0.493																																																0													196	165	176					12																	104031881		2203	4300	6503	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.797A>G	chr12.hg19:g.104031881A>G	ENSP00000373539:p.Glu266Gly			Missense_Mutation	SNP	ENST00000388887.2	hg19	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715138	0.68844	.	.	ENSG00000136011	ENST00000388887	T	0.06142	3.34	5.34	5.34	0.76211	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.719585	0.13832	N	0.359654	T	0.12475	0.0303	M	0.70842	2.15	0.28806	N	0.898514	P	0.42161	0.772	B	0.44315	0.446	T	0.06409	-1.0828	10	0.37606	T	0.19	.	10.2614	0.43430	0.8523:0.0:0.0:0.1477	.	266	Q8WWQ8	STAB2_HUMAN	G	266	ENSP00000373539:E266G	ENSP00000373539:E266G	E	+	2	0	STAB2	102556011	0.801000	0.28930	0.907000	0.35723	0.972000	0.66771	3.463000	0.53050	2.022000	0.59522	0.459000	0.35465	GAA		0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			G	104031881	A	G	104031881	3	3	4	1	0	0	0	0	1	0	0	0	15243	246	9	3	827	3	STAB2	12	104031881	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	1760296	104031881	29820014	92	345											
LRRC43	254050	hgsc.bcm.edu	37	12	122674790	122674790	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr12:122674790C>T	ENST00000339777.4	+	5	804	c.776C>T	c.(775-777)cCa>cTa	p.P259L	LRRC43_ENST00000425921.1_Missense_Mutation_p.P74L	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	259	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CAGGGAAACCCACTGGCCTTG	0.632																																																0													91	102	98					12																	122674790		2161	4261	6422	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.776C>T	chr12.hg19:g.122674790C>T	ENSP00000344233:p.Pro259Leu		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	hg19	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938331	0.92526	.	.	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.38560	1.13;1.13;1.13	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.65739	0.2720	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69335	-0.5172	10	0.87932	D	0	-43.7481	18.3879	0.90472	0.0:1.0:0.0:0.0	.	259	Q8N309	LRC43_HUMAN	L	74;259;130;74	ENSP00000438751:P74L;ENSP00000344233:P259L;ENSP00000416628:P74L	ENSP00000289014:P130L	P	+	2	0	LRRC43	121240743	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.184000	0.72008	2.460000	0.83146	0.561000	0.74099	CCA		0.632	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		T	122674790	C	T	122674790	3	4	4	1	0	0	0	0	1	0	0	0	9003	594	21	2	794	2	LRRC43	12	122674790	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	18642909	122674790	11177105	93	346											
PARP4	143	hgsc.bcm.edu	37	13	25026604	25026604	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr13:25026604A>G	ENST00000381989.3	-	24	3059	c.2954T>C	c.(2953-2955)cTg>cCg	p.L985P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	985	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTGTAATGTCAGGCTCTCATC	0.557																																																0													139	133	135					13																	25026604		2203	4300	6503	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2954T>C	chr13.hg19:g.25026604A>G	ENSP00000371419:p.Leu985Pro		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	hg19	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898475	0.52227	.	.	ENSG00000102699	ENST00000381989	T	0.08193	3.12	5.29	5.29	0.74685	von Willebrand factor, type A (3);	0.158962	0.43110	D	0.000618	T	0.28532	0.0706	M	0.78916	2.43	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.01133	-1.1441	10	0.39692	T	0.17	-12.1098	13.2758	0.60186	1.0:0.0:0.0:0.0	.	985	Q9UKK3	PARP4_HUMAN	P	985	ENSP00000371419:L985P	ENSP00000371419:L985P	L	-	2	0	PARP4	23924604	1.000000	0.71417	0.985000	0.45067	0.099000	0.18886	3.961000	0.56759	2.242000	0.73789	0.519000	0.50382	CTG		0.557	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		G	25026604	A	G	25026604	3	3	4	1	0	0	0	0	1	0	0	0	11465	188	7	3	2264	3	PARP4	13	25026604	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10		25026604	90143274	94	347											
PDS5B	23047	hgsc.bcm.edu	37	13	33332296	33332298	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	TGG	TGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr13:33332296_33332298delTGG	ENST00000315596.10	+	27	3314_3316	c.3128_3130delTGG	c.(3127-3132)atggta>ata	p.1043_1044MV>I		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1043					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ATCAGAAAGATGGTAGAAAATAT	0.266																																																0																																										SO:0001651	inframe_deletion	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3128_3130delTGG	chr13.hg19:g.33332296_33332298delTGG	ENSP00000313851:p.Met1043_Val1044delinsIle		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	In_Frame_Del	DEL	ENST00000315596.10	hg19	CCDS41878.1																																																																																				0.266	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		-	33332298	TGG	-	33332296	7	5	4	1	0	1	0	1	0	0	0	0	11694	1464	51	0	3230	0	PDS5B	13	33332296	In_Frame_Del	DEL	TGG	TCGA-2Z-A9J3-01A-12D-A382-10	8305692	33332296	81837582	95	348											
LECT1	11061	hgsc.bcm.edu	37	13	53298215	53298215	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr13:53298215C>T	ENST00000377962.3	-	4	463	c.385G>A	c.(385-387)Gag>Aag	p.E129K	LECT1_ENST00000448904.2_Missense_Mutation_p.E129K			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	129	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TAGCACTTCTCTCCTCCAGCA	0.448																																																0													148	115	126					13																	53298215		2203	4300	6503	SO:0001583	missense	11061			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.385G>A	chr13.hg19:g.53298215C>T	ENSP00000367198:p.Glu129Lys		Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	hg19	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173276	0.94807	.	.	ENSG00000136110	ENST00000448904;ENST00000377962;ENST00000431550	T;T;T	0.78816	-1.21;-1.21;-1.21	5.9	5.06	0.68205	BRICHOS (2);	0.136600	0.64402	N	0.000003	D	0.83538	0.5276	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.56746	0.971;0.977	P;P	0.53988	0.621;0.739	D	0.85425	0.1145	10	0.62326	D	0.03	.	14.9399	0.70986	0.0:0.9316:0.0:0.0684	.	129;129	O75829-2;O75829	.;LECT1_HUMAN	K	129;129;51	ENSP00000388576:E129K;ENSP00000367198:E129K;ENSP00000396035:E51K	ENSP00000367198:E129K	E	-	1	0	LECT1	52196216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.253000	0.58791	1.495000	0.48549	0.655000	0.94253	GAG		0.448	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			T	53298215	C	T	53298215	3	4	4	1	0	0	0	0	1	0	0	0	8714	922	32	2	635	2	LECT1	13	53298215	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	19965919	53298215	61871663	96	349											
LMO7	4008	hgsc.bcm.edu	37	13	76195877	76195877	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr13:76195877G>T	ENST00000341547.4	+	1	1308	c.48G>T	c.(46-48)atG>atT	p.M16I	RP11-173B14.5_ENST00000568302.1_RNA|RP11-173B14.5_ENST00000568735.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.M16I|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.M16I	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	16					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACAGTTGGATGTCCTATGATG	0.383																																																0													72	70	71					13																	76195877		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.48G>T	chr13.hg19:g.76195877G>T	ENSP00000342112:p.Met16Ile		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	hg19	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	G	9.697	1.153520	0.21371	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534	T;T;T	0.52983	0.64;0.64;0.64	3.82	1.3	0.21679	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29882	-0.9997	8	0.87932	D	0	.	4.1462	0.10217	0.1966:0.0:0.2294:0.574	.	16	Q8WWI1-3	.	I	16	ENSP00000342112:M16I;ENSP00000349571:M16I;ENSP00000366757:M16I	ENSP00000342112:M16I	M	+	3	0	LMO7	75093878	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.376000	0.20535	0.096000	0.17463	-0.518000	0.04402	ATG		0.383	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		T	76195877	G	T	76195877	3	4	4	1	0	0	0	0	1	0	0	0	8857	1377	48	4	50	4	LMO7	13	76195877	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	22897662	76195877	38974001	97	350											
LMO7	4008	hgsc.bcm.edu	37	13	76378589	76378589	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr13:76378589C>A	ENST00000321797.8	+	6	848	c.127C>A	c.(127-129)Ctg>Atg	p.L43M	LMO7_ENST00000526202.1_Missense_Mutation_p.L237M|LMO7_ENST00000341547.4_Missense_Mutation_p.L328M|LMO7_ENST00000465261.2_Missense_Mutation_p.L43M|LMO7_ENST00000377534.3_Missense_Mutation_p.L328M|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.L328M			Q8WWI1	LMO7_HUMAN	LIM domain 7	328					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACCAGCACCTCTGAGAAAGAA	0.443																																																0													119	128	125					13																	76378589		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.127C>A	chr13.hg19:g.76378589C>A	ENSP00000317802:p.Leu43Met		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.530501|2.530501	0.45073|0.45073	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261;ENST00000497947;ENST00000526371;ENST00000526528;ENST00000489941;ENST00000525373|ENST00000447038	T;T;T;T;T;T;T;T;T;T;T;T|.	0.35789|.	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29|.	5.98|5.98	1.59|1.59	0.23543|0.23543	.|.	0.077397|.	0.52532|.	D|.	0.000064|.	T|T	0.57829|0.57829	0.2080|0.2080	M|M	0.77820|0.77820	2.39|2.39	0.28496|0.28496	N|N	0.914238|0.914238	D;D;D;D;D|.	0.89917|.	0.997;0.997;0.998;1.0;0.998|.	D;D;D;D;D|.	0.87578|.	0.988;0.974;0.994;0.998;0.984|.	T|T	0.54689|0.54689	-0.8256|-0.8256	10|5	0.87932|.	D|.	0|.	-10.7237|-10.7237	11.4846|11.4846	0.50346|0.50346	0.0:0.2787:0.0:0.7213|0.0:0.2787:0.0:0.7213	.|.	237;328;328;43;276|.	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5|.	.;.;LMO7_HUMAN;.;.|.	M|Y	328;328;328;276;43;237;43;43;43;43;43;43|45	ENSP00000342112:L328M;ENSP00000349571:L328M;ENSP00000366757:L328M;ENSP00000366719:L276M;ENSP00000317802:L43M;ENSP00000431129:L237M;ENSP00000433352:L43M;ENSP00000431271:L43M;ENSP00000432269:L43M;ENSP00000434201:L43M;ENSP00000431636:L43M;ENSP00000431896:L43M|.	ENSP00000317802:L43M|.	L|S	+|+	1|2	2|0	LMO7|LMO7	75276590|75276590	0.022000|0.022000	0.18835|0.18835	0.976000|0.976000	0.42696|0.42696	0.782000|0.782000	0.44232|0.44232	0.202000|0.202000	0.17295|0.17295	0.426000|0.426000	0.26116|0.26116	-0.918000|-0.918000	0.02743|0.02743	CTG|TCT		0.443	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		A	76378589	C	A	76378589	3	1	4	1	0	0	0	0	1	0	0	0	8857	912	32	4	1016	4	LMO7	13	76378589	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	182712	76378589	38791289	98	351											
TEP1	7011	hgsc.bcm.edu	37	14	20846278	20846278	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr14:20846278G>A	ENST00000262715.5	-	39	5666	c.5626C>T	c.(5626-5628)Cgg>Tgg	p.R1876W	TEP1_ENST00000545983.1_Missense_Mutation_p.R214W|TEP1_ENST00000556935.1_Missense_Mutation_p.R1768W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1876					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCAGCCAGCCGTGCCCCTTCT	0.627																																																0													84	82	83					14																	20846278		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5626C>T	chr14.hg19:g.20846278G>A	ENSP00000262715:p.Arg1876Trp		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	hg19	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195644	0.38806	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.51817	0.69;1.55;1.55	5.48	3.57	0.40892	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.353602	0.31897	N	0.006884	T	0.54663	0.1872	L	0.51422	1.61	0.09310	N	1	D;D;D;D	0.76494	0.998;0.997;0.999;0.997	P;P;P;P	0.56916	0.761;0.653;0.809;0.765	T	0.48779	-0.9005	10	0.59425	D	0.04	-11.432	11.9525	0.52962	0.0:0.0:0.5654:0.4346	.	214;1768;1219;1876	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	W	1876;1876;1768;214	ENSP00000262715:R1876W;ENSP00000452574:R1768W;ENSP00000438849:R214W	ENSP00000262715:R1876W	R	-	1	2	TEP1	19916118	0.002000	0.14202	0.040000	0.18447	0.215000	0.24574	1.163000	0.31798	1.306000	0.44926	0.557000	0.71058	CGG		0.627	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20846278	G	A	20846278	3	1	4	1	0	0	0	0	1	0	0	0	15764	1144	40	1	2325	1	TEP1	14	20846278	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10		20846278	86503262	99	352											
PRMT5	10419	hgsc.bcm.edu	37	14	23393872	23393872	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr14:23393872T>C	ENST00000324366.8	-	9	1209	c.986A>G	c.(985-987)aAg>aGg	p.K329R	PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.K285R|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.K268R|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.K312R|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.K223R|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.K158R|PRMT5-AS1_ENST00000457443.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	329	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GATGGGGTCCTTTTCAAACAC	0.488																																																0													107	96	100					14																	23393872		2203	4300	6503	SO:0001583	missense	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.986A>G	chr14.hg19:g.23393872T>C	ENSP00000319169:p.Lys329Arg		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	hg19	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435772	0.83885	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530;ENST00000556043;ENST00000553550	T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98	5.92	5.92	0.95590	.	0.088928	0.85682	D	0.000000	T	0.30885	0.0779	L	0.43701	1.375	0.80722	D	1	P;B;B;P;P	0.52692	0.778;0.363;0.333;0.955;0.516	B;B;B;P;B	0.54060	0.398;0.38;0.208;0.741;0.313	T	0.01143	-1.1438	10	0.28530	T	0.3	-21.0851	15.346	0.74337	0.0:0.0:0.0:1.0	.	285;268;158;329;312	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	R	329;312;158;268;223;285;72;224;81;175	ENSP00000319169:K329R;ENSP00000380583:K312R;ENSP00000380582:K158R;ENSP00000216350:K268R;ENSP00000444915:K223R;ENSP00000452555:K285R	ENSP00000216350:K268R	K	-	2	0	PRMT5	22463712	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.970000	0.76099	2.270000	0.75569	0.459000	0.35465	AAG		0.488	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			C	23393872	T	C	23393872	3	2	4	1	0	0	0	0	1	0	0	0	12544	1609	56	3	963	3	PRMT5	14	23393872	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	2547594	23393872	83955668	100	353											
RALGAPA1	253959	hgsc.bcm.edu	37	14	36103901	36103901	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr14:36103901G>C	ENST00000389698.3	-	32	4746	c.4356C>G	c.(4354-4356)agC>agG	p.S1452R	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1465R|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1452R|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S1499R	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1452	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATCAGAGAGGCTCATGGGAA	0.413																																																0													48	45	46					14																	36103901		2203	4297	6500	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4356C>G	chr14.hg19:g.36103901G>C	ENSP00000374348:p.Ser1452Arg		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	hg19	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455222	0.43634	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.38	-0.0408	0.13870	.	0.096424	0.85682	D	0.000000	T	0.27278	0.0669	L	0.59436	1.845	0.32562	N	0.531019	P;B;P;B	0.43826	0.818;0.399;0.666;0.399	B;B;B;B	0.39840	0.311;0.266;0.23;0.147	T	0.38802	-0.9644	10	0.48119	T	0.1	-9.7139	10.9048	0.47073	0.4098:0.0:0.5902:0.0	.	1499;1465;1452;1452	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	R	1452;1452;1452;1499;90;1465;1499	ENSP00000374348:S1452R;ENSP00000302647:S1452R;ENSP00000258840:S1499R;ENSP00000451133:S90R;ENSP00000371803:S1465R;ENSP00000451877:S1499R	ENSP00000258840:S1499R	S	-	3	2	RALGAPA1	35173652	1.000000	0.71417	0.982000	0.44146	0.971000	0.66376	0.968000	0.29357	-0.201000	0.10284	-0.142000	0.14014	AGC		0.413	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		C	36103901	G	C	36103901	3	2	4	1	0	0	0	0	1	0	0	0	13019	1194	42	4	1943	4	RALGAPA1	14	36103901	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	12710029	36103901	71245639	101	354											
BMP4	652	hgsc.bcm.edu	37	14	54417256	54417256	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr14:54417256G>T	ENST00000245451.4	-	4	1114	c.721C>A	c.(721-723)Ctc>Atc	p.L241I	BMP4_ENST00000417573.1_Missense_Mutation_p.L241I|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000558984.1_Missense_Mutation_p.L241I|BMP4_ENST00000559087.1_Missense_Mutation_p.L241I	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	241					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GTCTGATGGAGGTGAGTCACC	0.592																																																0													103	84	90					14																	54417256		2203	4300	6503	SO:0001583	missense	652			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.721C>A	chr14.hg19:g.54417256G>T	ENSP00000245451:p.Leu241Ile		Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	hg19	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113400	0.37339	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.66638	-0.22;-0.22	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.131959	0.52532	D	0.000066	T	0.71239	0.3316	M	0.72118	2.19	0.54753	D	0.999984	B	0.24092	0.097	B	0.36030	0.216	T	0.67377	-0.5686	10	0.30078	T	0.28	.	17.6566	0.88179	0.0:0.0:1.0:0.0	.	241	P12644	BMP4_HUMAN	I	241	ENSP00000245451:L241I;ENSP00000394165:L241I	ENSP00000245451:L241I	L	-	1	0	BMP4	53487006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.385000	0.73182	2.647000	0.89833	0.655000	0.94253	CTC		0.592	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		T	54417256	G	T	54417256	3	4	4	1	0	0	0	0	1	0	0	0	1462	1000	35	4	509	4	BMP4	14	54417256	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	18313355	54417256	52932284	102	355											
SYT16	83851	hgsc.bcm.edu	37	14	62536436	62536436	+	Silent	SNP	T	T	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr14:62536436T>G	ENST00000430451.2	+	2	836	c.639T>G	c.(637-639)tcT>tcG	p.S213S	SYT16_ENST00000446982.2_Silent_p.S213S|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	213					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CAGTGACATCTGAGAAAGGAA	0.483																																																0													142	137	139					14																	62536436		1933	4132	6065	SO:0001819	synonymous_variant	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.639T>G	chr14.hg19:g.62536436T>G			B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	hg19	CCDS45121.1																																																																																				0.483	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		G	62536436	T	G	62536436	2	3	4	1	0	0	0	0	0	0	0	1	15477	1567	55	5		5	SYT16	14	62536436	Silent	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	8119180	62536436	44813104	103	356											
SYNE2	23224	hgsc.bcm.edu	37	14	64548159	64548159	+	Splice_Site	SNP	A	A	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr14:64548159A>G	ENST00000344113.4	+	57	11558		c.e57-1		SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000394768.2_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTCTTTCCCAGGCCACAGTT	0.463																																																0													86	84	85					14																	64548159		2203	4300	6503	SO:0001630	splice_region_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11347-1A>G	chr14.hg19:g.64548159A>G			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.889919	0.33348	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.653	0.68811	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63617912	1.000000	0.71417	0.993000	0.49108	0.227000	0.25037	5.959000	0.70339	2.257000	0.74773	0.533000	0.62120	.		0.463	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Intron	G	64548159	A	G	64548159	5	3	4	1	0	0	0	0	0	0	1	0	15451	202	7	3	11567	3	SYNE2	14	64548159	Splice_Site	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	2011723	64548159	42801381	104	357											
RDH12	145226	hgsc.bcm.edu	37	14	68195931	68195931	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr14:68195931G>T	ENST00000551171.1	+	8	1006	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	RDH12_ENST00000267502.3_Missense_Mutation_p.V228L|RDH12_ENST00000539142.1_Missense_Mutation_p.V228L	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	228					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CACCTACGCAGTGCACCCAGG	0.607																																																0													105	105	105					14																	68195931		2203	4300	6503	SO:0001583	missense	145226			AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19977	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 2"	608830	"retinol dehydrogenase 12 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.682G>T	chr14.hg19:g.68195931G>T	ENSP00000449079:p.Val228Leu		B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	hg19	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	G	8.284	0.816291	0.16607	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.85629	-2.01;-2.01;-2.01	5.74	4.8	0.61643	NAD(P)-binding domain (1);	0.124014	0.53938	D	0.000046	T	0.65176	0.2666	N	0.04994	-0.135	0.80722	D	1	B	0.20988	0.05	B	0.23574	0.047	T	0.61446	-0.7061	10	0.02654	T	1	.	9.6167	0.39696	0.0:0.3024:0.5731:0.1245	.	228	Q96NR8	RDH12_HUMAN	L	228	ENSP00000449079:V228L;ENSP00000267502:V228L;ENSP00000438715:V228L	ENSP00000267502:V228L	V	+	1	0	RDH12	67265684	0.998000	0.40836	0.958000	0.39756	0.104000	0.19210	2.905000	0.48727	2.703000	0.92315	0.655000	0.94253	GTG		0.607	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			T	68195931	G	T	68195931	3	4	4	1	0	0	0	0	1	0	0	0	13197	1029	36	4	704	4	RDH12	14	68195931	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	3647772	68195931	39153609	105	358											
TTLL5	23093	hgsc.bcm.edu	37	14	76173407	76173407	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr14:76173407T>G	ENST00000298832.9	+	8	837	c.632T>G	c.(631-633)aTt>aGt	p.I211S	TTLL5_ENST00000286650.5_Missense_Mutation_p.I211S|TTLL5_ENST00000557636.1_Missense_Mutation_p.I211S|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	211	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCCCGTTACATTAACAACCCC	0.393																																																0													131	126	128					14																	76173407		2203	4300	6503	SO:0001583	missense	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.632T>G	chr14.hg19:g.76173407T>G	ENSP00000298832:p.Ile211Ser		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	hg19	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515506	0.85389	.	.	ENSG00000119685	ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.12984	2.63;2.63;2.63	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	H	0.97465	4.01	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.79108	0.976;0.992;0.992	T	0.71606	-0.4542	10	0.87932	D	0	.	15.3992	0.74823	0.0:0.0:0.0:1.0	.	211;211;211	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	S	211	ENSP00000450713:I211S;ENSP00000286650:I211S;ENSP00000298832:I211S	ENSP00000286650:I211S	I	+	2	0	TTLL5	75243160	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.303000	0.78871	2.178000	0.69098	0.533000	0.62120	ATT		0.393	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		G	76173407	T	G	76173407	3	3	4	1	0	0	0	0	1	0	0	0	16735	1493	52	5	658	5	TTLL5	14	76173407	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	7977476	76173407	31176133	106	359											
ITPK1	3705	hgsc.bcm.edu	37	14	93429129	93429129	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr14:93429129G>T	ENST00000267615.6	-	6	603	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	ITPK1_ENST00000555495.1_Missense_Mutation_p.L25M|ITPK1_ENST00000556603.2_Missense_Mutation_p.L144M|ITPK1_ENST00000354313.3_Missense_Mutation_p.L144M|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	144	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TTCTCCAGCAGCCGCATGGTG	0.632																																																0													139	101	114					14																	93429129		2203	4300	6503	SO:0001583	missense	3705			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.430C>A	chr14.hg19:g.93429129G>T	ENSP00000267615:p.Leu144Met		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	hg19	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954724	0.53293	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458;ENST00000554999;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	T	0.08720	3.06	5.51	5.51	0.81932	ATP-grasp fold (1);	0.311884	0.33959	N	0.004388	T	0.15003	0.0362	L	0.52011	1.625	0.38708	D	0.953155	B;B	0.31256	0.316;0.084	B;B	0.42555	0.391;0.139	T	0.04128	-1.0975	10	0.45353	T	0.12	-9.5343	14.2724	0.66159	0.0:0.0:0.8512:0.1488	.	144;144	Q13572;Q13572-2	ITPK1_HUMAN;.	M	144;174;144;25;144;144;102;162;150;144;144	ENSP00000346272:L144M	ENSP00000267615:L144M	L	-	1	2	ITPK1	92498882	1.000000	0.71417	0.990000	0.47175	0.917000	0.54804	3.936000	0.56568	2.570000	0.86706	0.549000	0.68633	CTG		0.632	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		T	93429129	G	T	93429129	3	4	4	1	0	0	0	0	1	0	0	0	7918	962	34	4	886	4	ITPK1	14	93429129	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	17255722	93429129	13920411	107	360											
FAM98B	283742	hgsc.bcm.edu	37	15	38776684	38776685	+	IGR	INS	-	-	GGG			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr15:38776684_38776685insGGG	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_In_Frame_Ins_p.383_384insG	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		gggaggagggtgggggGGAGGA	0.658																																																0																																										SO:0001628	intergenic_variant	283742				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		chr15.hg19:g.38776688_38776690dupGGG			A8MUW5|Q8N935	In_Frame_Ins	INS	ENST00000491535.1	hg19	CCDS42015.1																																																																																				0.658	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		GGG	38776685	-	GGG	38776684	6	5	4	0	1	1	1	0	0	0	0	0	5659	1696	59	0		0	FAM98B	15	38776684	IGR	INS	-	TCGA-2Z-A9J3-01A-12D-A382-10		38776684	63754708	108	361											
SPTBN5	51332	hgsc.bcm.edu	37	15	42163671	42163671	+	Silent	SNP	G	G	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr15:42163671G>C	ENST00000320955.6	-	29	5576	c.5349C>G	c.(5347-5349)ggC>ggG	p.G1783G		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1783					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCGCTGGCTGCCCATCTCCA	0.637																																																0													21	25	24					15																	42163671		1840	3839	5679	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5349C>G	chr15.hg19:g.42163671G>C				Silent	SNP	ENST00000320955.6	hg19																																																																																					0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		C	42163671	G	C	42163671	2	2	4	1	0	0	0	0	0	0	0	1	15127	1306	46	4		4	SPTBN5	15	42163671	Silent	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	3386987	42163671	60367721	109	362											
MAP1A	4130	hgsc.bcm.edu	37	15	43815125	43815125	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr15:43815125A>G	ENST00000300231.5	+	4	1904	c.1454A>G	c.(1453-1455)aAa>aGa	p.K485R	MAP1A_ENST00000399453.1_Missense_Mutation_p.K485R|MAP1A_ENST00000382031.1_Missense_Mutation_p.K723R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	485	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).		K -> Q (in dbSNP:rs2584715).		microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAAGAGTCAAAATAGACAGG	0.527																																																0													31	31	31					15																	43815125		1903	4110	6013	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1454A>G	chr15.hg19:g.43815125A>G	ENSP00000300231:p.Lys485Arg		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	hg19	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044131	0.36085	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.50813	0.73;0.73;0.73	5.39	5.39	0.77823	.	0.000000	0.33670	N	0.004672	T	0.56819	0.2011	M	0.78637	2.42	0.47441	D	0.999427	P	0.50528	0.936	P	0.46320	0.512	T	0.64943	-0.6288	10	0.66056	D	0.02	-21.4983	15.5825	0.76455	1.0:0.0:0.0:0.0	.	485	P78559	MAP1A_HUMAN	R	723;485;485;485	ENSP00000371462:K723R;ENSP00000382380:K485R;ENSP00000300231:K485R	ENSP00000300231:K485R	K	+	2	0	MAP1A	41602417	1.000000	0.71417	0.982000	0.44146	0.961000	0.63080	5.234000	0.65343	2.263000	0.75096	0.533000	0.62120	AAA		0.527	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		G	43815125	A	G	43815125	3	3	4	1	0	0	0	0	1	0	0	0	9229	14	1	3	1456	3	MAP1A	15	43815125	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	1651454	43815125	58716267	110	363											
DMXL2	23312	hgsc.bcm.edu	37	15	51749533	51749533	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr15:51749533C>A	ENST00000251076.5	-	36	8550	c.8263G>T	c.(8263-8265)Gct>Tct	p.A2755S	RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.A2756S|DMXL2_ENST00000449909.3_Missense_Mutation_p.A2119S|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2755						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCACACTAGCTCCAGTGCTA	0.418																																																0													105	93	97					15																	51749533		2196	4293	6489	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8263G>T	chr15.hg19:g.51749533C>A	ENSP00000251076:p.Ala2755Ser		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	hg19	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092771	0.94149	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.25912	1.91;1.91;1.77	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.47716	1.5	0.80722	D	1	B;D;B;B	0.53151	0.019;0.958;0.376;0.135	B;B;B;B	0.41202	0.014;0.35;0.062;0.061	T	0.01894	-1.1252	10	0.46703	T	0.11	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	2756;2119;2755;2756	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	S	2755;2756;2119;321	ENSP00000251076:A2755S;ENSP00000441858:A2756S;ENSP00000400855:A2119S	ENSP00000251076:A2755S	A	-	1	0	DMXL2	49536825	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.944000	0.75940	2.894000	0.99253	0.591000	0.81541	GCT		0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		A	51749533	C	A	51749533	3	1	4	1	0	0	0	0	1	0	0	0	4597	797	28	4	879	4	DMXL2	15	51749533	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	7934408	51749533	50781859	111	364											
KIAA1024	23251	hgsc.bcm.edu	37	15	79760702	79760702	+	Silent	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr15:79760702G>T	ENST00000305428.3	+	4	2802	c.2727G>T	c.(2725-2727)gtG>gtT	p.V909V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	909						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TTATTGTCGTGCCCATCTGCA	0.468																																																0													79	68	72					15																	79760702		2196	4293	6489	SO:0001819	synonymous_variant	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2727G>T	chr15.hg19:g.79760702G>T			A7MD43	Silent	SNP	ENST00000305428.3	hg19	CCDS32306.1																																																																																				0.468	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		T	79760702	G	T	79760702	2	4	4	1	0	0	0	0	0	0	0	1	8207	1306	46	4		4	KIAA1024	15	79760702	Silent	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	28011169	79760702	22770690	112	365											
NR2F2	7026	hgsc.bcm.edu	37	15	96875731	96875731	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr15:96875731T>C	ENST00000394166.3	+	1	1786	c.397T>C	c.(397-399)Tac>Cac	p.Y133H	NR2F2_ENST00000394171.2_5'Flank|NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000453270.2_5'Flank|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	133	Interaction with ZFPM2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCAGTGCCAGTACTGCCGCCT	0.607																																																0													78	71	74					15																	96875731		2197	4298	6495	SO:0001583	missense	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.397T>C	chr15.hg19:g.96875731T>C	ENSP00000377721:p.Tyr133His		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	hg19	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.179895	0.78564	.	.	ENSG00000185551	ENST00000394166	D	0.97303	-4.33	4.92	4.92	0.64577	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.64402	D	0.000005	D	0.97754	0.9263	L	0.61387	1.9	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.98274	1.0505	10	0.62326	D	0.03	.	13.4089	0.60931	0.0:0.0:0.0:1.0	.	133	P24468	COT2_HUMAN	H	133	ENSP00000377721:Y133H	ENSP00000377721:Y133H	Y	+	1	0	NR2F2	94676735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.990000	0.88215	1.843000	0.53566	0.459000	0.35465	TAC		0.607	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			C	96875731	T	C	96875731	3	2	4	1	0	0	0	0	1	0	0	0	10630	1638	57	3	446	3	NR2F2	15	96875731	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	17115029	96875731	5655661	113	366											
IL32	9235	hgsc.bcm.edu	37	16	3119208	3119208	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr16:3119208C>A	ENST00000534507.1	+	6	768	c.557C>A	c.(556-558)gCa>gAa	p.A186E	RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000548652.1_Missense_Mutation_p.A131E|IL32_ENST00000530538.2_Missense_Mutation_p.A140E|IL32_ENST00000552356.1_Missense_Mutation_p.A120E|IL32_ENST00000525643.2_Missense_Mutation_p.A140E|IL32_ENST00000548476.1_Missense_Mutation_p.A186E|IL32_ENST00000533097.2_Missense_Mutation_p.A140E|IL32_ENST00000528163.2_Missense_Mutation_p.A140E|IL32_ENST00000529699.1_Missense_Mutation_p.A120E|IL32_ENST00000551122.1_Intron|IL32_ENST00000444393.3_Missense_Mutation_p.A140E|IL32_ENST00000530890.1_Missense_Mutation_p.A120E|IL32_ENST00000440815.3_Missense_Mutation_p.A140E|IL32_ENST00000552936.1_Missense_Mutation_p.A164E|IL32_ENST00000008180.9_Missense_Mutation_p.A120E|IL32_ENST00000396887.3_Intron|IL32_ENST00000549213.1_Intron|IL32_ENST00000529550.1_Missense_Mutation_p.A140E|IL32_ENST00000551513.1_Missense_Mutation_p.A177E|IL32_ENST00000531965.1_Missense_Mutation_p.A130E|IL32_ENST00000526464.2_Missense_Mutation_p.A140E|IL32_ENST00000548246.1_Missense_Mutation_p.A100E|IL32_ENST00000382213.3_Missense_Mutation_p.A131E|IL32_ENST00000325568.5_Missense_Mutation_p.A140E|IL32_ENST00000552664.1_Missense_Mutation_p.A140E|IL32_ENST00000396890.2_Missense_Mutation_p.A186E			P24001	IL32_HUMAN	interleukin 32	186					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTGGTCCATGCAGTGCAGGCC	0.602																																																0													49	57	54					16																	3119208		2197	4298	6495	SO:0001583	missense	9235			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.557C>A	chr16.hg19:g.3119208C>A	ENSP00000431775:p.Ala186Glu		A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	hg19		.	.	.	.	.	.	.	.	.	.	c	7.440	0.640466	0.14386	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000525228;ENST00000548652;ENST00000530538;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	1.89	-0.329	0.12686	.	.	.	.	.	T	0.33789	0.0875	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B	0.18166	0.007;0.026;0.026;0.026;0.007;0.026	B;B;B;B;B;B	0.10450	0.003;0.005;0.005;0.005;0.003;0.005	T	0.17018	-1.0383	9	0.38643	T	0.18	.	8.4032	0.32599	0.3619:0.6381:0.0:0.0	.	100;120;131;120;186;140	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2	.;.;.;.;IL32_HUMAN;.	E	140;186;130;120;140;140;140;140;186;140;120;140;140;120;186;111;131;140;164;186;140;120;177;131;100	ENSP00000324742:A140E;ENSP00000431775:A186E;ENSP00000433177:A130E;ENSP00000436937:A120E;ENSP00000450364:A140E;ENSP00000405063:A140E;ENSP00000437020:A140E;ENSP00000432218:A140E;ENSP00000448354:A186E;ENSP00000432850:A140E;ENSP00000433747:A120E;ENSP00000411958:A140E;ENSP00000432917:A140E;ENSP00000008180:A120E;ENSP00000380099:A186E;ENSP00000431740:A111E;ENSP00000446624:A131E;ENSP00000436929:A140E;ENSP00000447033:A164E;ENSP00000449483:A186E;ENSP00000448683:A140E;ENSP00000446978:A120E;ENSP00000449147:A177E;ENSP00000371648:A131E;ENSP00000447979:A100E	ENSP00000008180:A120E	A	+	2	0	IL32	3059209	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.401000	0.02502	-0.380000	0.07894	-2.641000	0.00151	GCA		0.602	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		A	3119208	C	A	3119208	3	1	4	1	0	0	0	0	1	0	0	0	7694	710	25	4	441	4	IL32	16	3119208	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10		3119208	87235545	114	367											
UQCRC2	7385	hgsc.bcm.edu	37	16	21974207	21974208	+	Splice_Site	INS	-	-	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr16:21974207_21974208insT	ENST00000268379.4	+	6	1278		c.e6+1		UQCRC2_ENST00000561553.1_Splice_Site	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CCGCAGACTCGTAAGTACATTT	0.361																																					Colon(123;450 1645 12841 25393 45623)											0																																										SO:0001630	splice_region_variant	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.514+1->T	chr16.hg19:g.21974208_21974208dupT			B3KSN4|Q9BQ05	Splice_Site	INS	ENST00000268379.4	hg19	CCDS10601.1																																																																																				0.361	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366	Intron	T	21974208	-	T	21974207	8	5	4	1	0	1	1	0	0	0	1	0	17025	1159	40	0	537	0	UQCRC2	16	21974207	Splice_Site	INS	-	TCGA-2Z-A9J3-01A-12D-A382-10	18854999	21974207	68380546	115	368											
SALL1	6299	hgsc.bcm.edu	37	16	51171131	51171131	+	Silent	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr16:51171131C>T	ENST00000251020.4	-	3	3900	c.3867G>A	c.(3865-3867)gaG>gaA	p.E1289E	SALL1_ENST00000440970.1_Silent_p.E1192E|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.E112E	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1289					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGCATTGGGCTCTGAGTTCT	0.587																																					GBM(103;1352 1446 1855 4775 8890)											0													72	68	69					16																	51171131		2198	4300	6498	SO:0001819	synonymous_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3867G>A	chr16.hg19:g.51171131C>T			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	hg19	CCDS10747.1																																																																																				0.587	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		T	51171131	C	T	51171131	2	4	4	1	0	0	0	0	0	0	0	1	13816	796	28	2		2	SALL1	16	51171131	Silent	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	29196924	51171131	39183622	116	369											
PDPR	55066	hgsc.bcm.edu	37	16	70170204	70170204	+	Missense_Mutation	SNP	A	A	G	rs541394087		TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr16:70170204A>G	ENST00000288050.4	+	10	2062	c.1105A>G	c.(1105-1107)Atg>Gtg	p.M369V	PDPR_ENST00000398122.3_Missense_Mutation_p.M269V|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Missense_Mutation_p.M369V	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	369					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GAGGTGCATCATGGGCGAGTC	0.517													.|||	1	0.000199681	0.0	0.0	5008	,	,		26659	0.001		0.0	False		,,,				2504	0.0															0													78	81	80					16																	70170204		1977	4175	6152	SO:0001583	missense	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1105A>G	chr16.hg19:g.70170204A>G	ENSP00000288050:p.Met369Val		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	hg19	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993038	0.35131	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	T;T	0.79749	-1.3;-1.3	4.42	3.31	0.37934	FAD dependent oxidoreductase (1);	0.040270	0.85682	D	0.000000	T	0.62036	0.2395	N	0.04387	-0.21	0.80722	D	1	B;B	0.33448	0.412;0.002	B;B	0.40982	0.345;0.007	T	0.52472	-0.8571	10	0.09843	T	0.71	.	10.3359	0.43850	0.8344:0.1656:0.0:0.0	.	97;369	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	V	369;269;97	ENSP00000288050:M369V;ENSP00000381190:M269V	ENSP00000205055:M97V	M	+	1	0	PDPR	68727705	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.221000	0.65272	0.526000	0.28541	0.374000	0.22700	ATG		0.517	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		G	70170204	A	G	70170204	3	3	4	1	0	0	0	0	1	0	0	0	11691	217	8	3	1135	3	PDPR	16	70170204	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	18999073	70170204	20184549	117	370											
SLC43A2	124935	hgsc.bcm.edu	37	17	1486541	1486541	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr17:1486541A>G	ENST00000301335.5	-	11	1395	c.1307T>C	c.(1306-1308)gTg>gCg	p.V436A	SLC43A2_ENST00000571650.1_Missense_Mutation_p.V440A|SLC43A2_ENST00000382147.4_Missense_Mutation_p.V440A|SLC43A2_ENST00000412517.3_Missense_Mutation_p.V299A	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	436					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CCCAAAGCCCACGAGCAGCAG	0.597																																																0													101	101	101					17																	1486541		2203	4300	6503	SO:0001583	missense	124935			BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1307T>C	chr17.hg19:g.1486541A>G	ENSP00000301335:p.Val436Ala		B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	hg19	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176893	0.78564	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	D;D;D	0.81579	-1.51;-1.51;-1.51	5.67	5.67	0.87782	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.86443	0.5934	M	0.85373	2.75	0.58432	D	0.999998	B;P	0.45283	0.257;0.855	B;P	0.49561	0.083;0.615	D	0.85660	0.1288	10	0.28530	T	0.3	-17.3303	16.2045	0.82114	1.0:0.0:0.0:0.0	.	436;440	Q8N370;Q8N370-3	LAT4_HUMAN;.	A	436;440;299	ENSP00000301335:V436A;ENSP00000371582:V440A;ENSP00000408284:V299A	ENSP00000301335:V436A	V	-	2	0	SLC43A2	1433291	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.287000	0.95975	2.288000	0.76882	0.533000	0.62120	GTG		0.597	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		G	1486541	A	G	1486541	3	3	4	1	0	0	0	0	1	0	0	0	14639	159	6	3	418	3	SLC43A2	17	1486541	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10		1486541	79708669	118	371											
NCOR1	9611	hgsc.bcm.edu	37	17	16004686	16004686	+	Missense_Mutation	SNP	T	T	A	rs201420293		TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr17:16004686T>A	ENST00000268712.3	-	20	2825	c.2568A>T	c.(2566-2568)agA>agT	p.R856S	NCOR1_ENST00000395851.1_Missense_Mutation_p.R872S|NCOR1_ENST00000395848.1_Missense_Mutation_p.R763S|RNU6-314P_ENST00000516574.1_RNA|NCOR1_ENST00000583226.1_5'Flank	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	856					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AATCTTCATCTCTAGGTTCCA	0.483																																																0													190	177	181					17																	16004686		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2568A>T	chr17.hg19:g.16004686T>A	ENSP00000268712:p.Arg856Ser		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	2.512	-0.312814	0.05422	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T;T	0.45668	3.41;1.54;0.89;1.54	5.76	-0.452	0.12205	.	0.776473	0.13041	N	0.418546	T	0.22126	0.0533	L	0.29908	0.895	0.46774	D	0.999197	B;B;B	0.21309	0.054;0.0;0.0	B;B;B	0.21360	0.034;0.0;0.0	T	0.15178	-1.0446	10	0.18710	T	0.47	-1.0053	0.985	0.01444	0.2157:0.2558:0.1112:0.4173	.	763;856;872	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	S	856;872;763;763	ENSP00000268712:R856S;ENSP00000379192:R872S;ENSP00000379190:R763S;ENSP00000379189:R763S	ENSP00000268712:R856S	R	-	3	2	NCOR1	15945411	0.001000	0.12720	0.350000	0.25708	0.105000	0.19272	-0.318000	0.08050	-0.108000	0.12066	-1.109000	0.02080	AGA		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		A	16004686	T	A	16004686	3	1	4	1	0	0	0	0	1	0	0	0	10237	1548	54	5	4862	5	NCOR1	17	16004686	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	14518145	16004686	65190524	119	372											
FAM20A	54757	hgsc.bcm.edu	37	17	66538847	66538847	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr17:66538847A>C	ENST00000592554.1	-	6	1638	c.916T>G	c.(916-918)Ttt>Gtt	p.F306V	AC079210.1_ENST00000600820.1_5'Flank|FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	306					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGAGAGACAAAGAAAACACTC	0.522																																																0													107	107	107					17																	66538847		2203	4300	6503	SO:0001583	missense	54757			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.916T>G	chr17.hg19:g.66538847A>C	ENSP00000468308:p.Phe306Val		B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	hg19	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	A	32	5.105452	0.94245	.	.	ENSG00000108950	ENST00000226094	.	.	.	6.04	6.04	0.98038	.	0.087086	0.85682	D	0.000000	T	0.77398	0.4124	M	0.89414	3.03	0.80722	D	1	P	0.47034	0.889	P	0.50825	0.651	T	0.81820	-0.0757	9	0.66056	D	0.02	-17.9903	16.5763	0.84648	1.0:0.0:0.0:0.0	.	306	Q96MK3	FA20A_HUMAN	V	306	.	ENSP00000226094:F306V	F	-	1	0	FAM20A	64050442	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.962000	0.93254	2.317000	0.78254	0.459000	0.35465	TTT		0.522	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		C	66538847	A	C	66538847	3	2	4	1	0	0	0	0	1	0	0	0	5539	72	3	5	733	5	FAM20A	17	66538847	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	50534161	66538847	14656363	120	373											
UBE2O	63893	hgsc.bcm.edu	37	17	74391896	74391896	+	Silent	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr17:74391896C>T	ENST00000319380.7	-	15	2920	c.2856G>A	c.(2854-2856)aaG>aaA	p.K952K	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	952					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGAAGAACTTCTTGGCTTCTG	0.502																																																0													124	116	119					17																	74391896		2203	4300	6503	SO:0001819	synonymous_variant	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2856G>A	chr17.hg19:g.74391896C>T			A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	hg19	CCDS32742.1																																																																																				0.502	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		T	74391896	C	T	74391896	2	4	4	1	0	0	0	0	0	0	0	1	16873	912	32	2		2	UBE2O	17	74391896	Silent	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	7853049	74391896	6803314	121	374											
FOXK2	3607	hgsc.bcm.edu	37	17	80477826	80477826	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr17:80477826G>C	ENST00000335255.5	+	1	236	c.62G>C	c.(61-63)gGg>gCg	p.G21A		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	21	Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ggcggggccgggggcggcggg	0.846																																																0													1	1	1					17																	80477826		122	223	345	SO:0001583	missense	3607			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"Forkhead boxes"	6036	protein-coding gene	gene with protein product		147685	"interleukin enhancer binding factor 1"	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.62G>C	chr17.hg19:g.80477826G>C	ENSP00000335677:p.Gly21Ala		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	hg19	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	.	2.177	-0.388435	0.04932	.	.	ENSG00000141568	ENST00000335255;ENST00000335241	D	0.93076	-3.16	1.8	1.8	0.24995	.	.	.	.	.	D	0.89375	0.6697	N	0.08118	0	0.25222	N	0.98989	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.68621	0.959;0.91;0.959	T	0.80350	-0.1419	9	0.14252	T	0.57	.	6.724	0.23346	0.0:0.0:1.0:0.0	.	21;21;21	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	A	21	ENSP00000335677:G21A	ENSP00000334321:G21A	G	+	2	0	FOXK2	78071115	0.917000	0.31117	0.403000	0.26384	0.773000	0.43773	0.923000	0.28757	0.820000	0.34516	0.486000	0.48141	GGG		0.846	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		C	80477826	G	C	80477826	3	2	4	1	0	0	0	0	1	0	0	0	6017	1232	43	4	64	4	FOXK2	17	80477826	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	6085930	80477826	717384	122	375											
ENOSF1	55556	hgsc.bcm.edu	37	18	677380	677380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr18:677380delA	ENST00000251101.7	-	14	1201	c.1113delT	c.(1111-1113)tttfs	p.F371fs	ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000319815.6_Frame_Shift_Del_p.F141fs|ENOSF1_ENST00000340116.7_Frame_Shift_Del_p.F378fs|ENOSF1_ENST00000383578.3_Frame_Shift_Del_p.F289fs|ENOSF1_ENST00000580982.1_Frame_Shift_Del_p.F295fs	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	371					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATATGTAGTCAAATATAATCA	0.423																																																0													84	86	85					18																	677380		2203	4300	6503	SO:0001589	frameshift_variant	55556			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.1113delT	chr18.hg19:g.677380delA	ENSP00000251101:p.Phe371fs		A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Frame_Shift_Del	DEL	ENST00000251101.7	hg19	CCDS11822.1																																																																																				0.423	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		-	677380	A	-	677380	7	5	4	1	0	1	0	1	0	0	0	0	5127	127	5	0	230	0	ENOSF1	18	677380	Frame_Shift_Del	DEL	A	TCGA-2Z-A9J3-01A-12D-A382-10		677380	77399868	123	376											
APCDD1	147495	hgsc.bcm.edu	37	18	10487720	10487720	+	Nonsense_Mutation	SNP	C	C	A	rs139112764		TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr18:10487720C>A	ENST00000355285.5	+	5	1584	c.1230C>A	c.(1228-1230)tgC>tgA	p.C410*		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CCAATGGCTGCGTGGCCCTGG	0.602																																																0													77	68	71					18																	10487720		2203	4300	6503	SO:0001587	stop_gained	147495			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1230C>A	chr18.hg19:g.10487720C>A	ENSP00000347433:p.Cys410*			Nonsense_Mutation	SNP	ENST00000355285.5	hg19	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	C	38	6.674971	0.97755	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	.	.	.	5.07	-4.6	0.03390	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.3709	13.6645	0.62387	0.0:0.3885:0.0:0.6115	.	.	.	.	X	410;461	.	ENSP00000347433:C410X	C	+	3	2	APCDD1	10477720	0.361000	0.24972	0.907000	0.35723	0.991000	0.79684	-0.250000	0.08830	-1.024000	0.03338	-0.251000	0.11542	TGC		0.602	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		A	10487720	C	A	10487720	4	1	4	1	0	0	0	0	0	1	0	0	765	776	27	4	1248	4	APCDD1	18	10487720	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	9810340	10487720	67589528	124	377											
TCF4	6925	hgsc.bcm.edu	37	18	53018225	53018225	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr18:53018225G>A	ENST00000356073.4	-	7	990	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	TCF4_ENST00000567880.1_Intron|TCF4_ENST00000564403.2_Missense_Mutation_p.L127F|TCF4_ENST00000537578.1_Missense_Mutation_p.L103F|TCF4_ENST00000564228.1_Missense_Mutation_p.L56F|TCF4_ENST00000570177.2_5'UTR|TCF4_ENST00000561992.1_5'UTR|TCF4_ENST00000568673.1_Missense_Mutation_p.L103F|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000566286.1_Missense_Mutation_p.L125F|TCF4_ENST00000354452.3_Missense_Mutation_p.L127F|TCF4_ENST00000543082.1_Missense_Mutation_p.L85F|TCF4_ENST00000544241.2_Missense_Mutation_p.L56F|TCF4_ENST00000537856.3_5'UTR|TCF4_ENST00000398339.1_Missense_Mutation_p.L229F|TCF4_ENST00000564999.1_Missense_Mutation_p.L127F|TCF4_ENST00000568740.1_Missense_Mutation_p.L102F|TCF4_ENST00000540999.1_Missense_Mutation_p.L103F|TCF4_ENST00000565018.2_Missense_Mutation_p.L127F	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	127					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCACCTCCAAGGAGACTCTGC	0.428																																																0													91	88	89					18																	53018225		2203	4300	6503	SO:0001583	missense	6925			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.379C>T	chr18.hg19:g.53018225G>A	ENSP00000348374:p.Leu127Phe		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	hg19	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926592	0.52759	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000398339	T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.57	5.57	0.84162	.	0.162083	0.42682	D	0.000670	T	0.82038	0.4950	L	0.59436	1.845	0.58432	D	0.999994	D;B;D;D;P;P;D	0.69078	0.957;0.418;0.975;0.997;0.947;0.913;0.957	P;B;P;P;P;P;P	0.59221	0.729;0.267;0.835;0.854;0.568;0.66;0.729	D	0.83433	0.0039	10	0.87932	D	0	-25.4497	16.8254	0.85929	0.0:0.0:1.0:0.0	.	103;127;103;229;127;85;56	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	F	127;127;85;103;103;56;229	ENSP00000346440:L127F;ENSP00000348374:L127F;ENSP00000439656:L85F;ENSP00000445202:L103F;ENSP00000440731:L103F;ENSP00000441562:L56F;ENSP00000381382:L229F	ENSP00000346440:L127F	L	-	1	0	TCF4	51169223	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.547000	0.60712	2.781000	0.95711	0.655000	0.94253	CTT		0.428	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		A	53018225	G	A	53018225	3	1	4	1	0	0	0	0	1	0	0	0	15700	1000	35	2	1688	2	TCF4	18	53018225	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	42530505	53018225	25059023	125	378											
PNPLA6	10908	hgsc.bcm.edu	37	19	7619899	7619899	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr19:7619899T>C	ENST00000221249.6	+	25	3072	c.2641T>C	c.(2641-2643)Tcg>Ccg	p.S881P	PNPLA6_ENST00000600737.1_Missense_Mutation_p.S919P|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S854P|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S881P|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S929P	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	920					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGCTGGTGCTCGGGGCACCT	0.711																																																0													12	13	12					19																	7619899		2199	4290	6489	SO:0001583	missense	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2641T>C	chr19.hg19:g.7619899T>C	ENSP00000221249:p.Ser881Pro		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	hg19	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	t	28.6	4.930713	0.92389	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.35	5.35	0.76521	.	0.140180	0.50627	D	0.000120	T	0.56746	0.2006	M	0.90082	3.085	0.58432	D	0.999999	D;B;D;D	0.65815	0.992;0.149;0.995;0.987	D;B;D;D	0.68765	0.912;0.162;0.96;0.937	T	0.66101	-0.6007	10	0.72032	D	0.01	.	13.3305	0.60483	0.0:0.0:0.0:1.0	.	920;854;919;881	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	P	881;854;929;881	ENSP00000221249:S881P;ENSP00000443323:S854P;ENSP00000407509:S929P;ENSP00000394348:S881P	ENSP00000221249:S881P	S	+	1	0	PNPLA6	7525899	1.000000	0.71417	0.996000	0.52242	0.748000	0.42578	7.996000	0.88334	2.040000	0.60383	0.454000	0.30748	TCG		0.711	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		C	7619899	T	C	7619899	3	2	4	1	0	0	0	0	1	0	0	0	12171	1551	54	3	2875	3	PNPLA6	19	7619899	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10		7619899	51509084	126	379											
ZNF627	199692	hgsc.bcm.edu	37	19	11727866	11727866	+	Missense_Mutation	SNP	G	G	A	rs200860012		TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr19:11727866G>A	ENST00000361113.5	+	4	756	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R183Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GTAAGCATTCGAAGACACATG	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		24586	0.0		0.0	False		,,,				2504	0.001				Melanoma(112;173 1614 10731 17751 23322)											1	Substitution - Missense(1)	central_nervous_system(1)						G	GLN/ARG	0,4336		0,0,2168	84	85	85		548	-2.7	0	19		85	1,8559		0,1,4279	yes	missense	ZNF627	NM_145295.3	43	0,1,6447	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging	183/462	11727866	1,12895	2168	4280	6448	SO:0001583	missense	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"Zinc fingers, C2H2-type", "-"	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.548G>A	chr19.hg19:g.11727866G>A	ENSP00000354414:p.Arg183Gln		O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	hg19	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	g	7.616	0.675785	0.14841	0.0	1.17E-4	ENSG00000198551	ENST00000361113	T	0.36520	1.25	1.36	-2.73	0.05950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19046	0.0457	L	0.33189	0.99	0.18873	N	0.999989	P	0.42584	0.784	B	0.38616	0.277	T	0.22173	-1.0224	9	0.07030	T	0.85	.	6.5443	0.22397	0.6527:0.0:0.3473:0.0	.	183	Q7L945	ZN627_HUMAN	Q	183	ENSP00000354414:R183Q	ENSP00000354414:R183Q	R	+	2	0	ZNF627	11588866	0.000000	0.05858	0.001000	0.08648	0.966000	0.64601	-1.336000	0.02660	-0.762000	0.04664	0.313000	0.20887	CGA		0.403	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		A	11727866	G	A	11727866	3	1	4	1	0	0	0	0	1	0	0	0	18056	1058	37	1	562	1	ZNF627	19	11727866	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	4107967	11727866	47401117	127	380											
FBXW9	84261	hgsc.bcm.edu	37	19	12805491	12805491	+	Missense_Mutation	SNP	A	A	T	rs201026853	byFrequency	TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr19:12805491A>T	ENST00000380339.3	-	3	631	c.595T>A	c.(595-597)Ttg>Atg	p.L199M	FBXW9_ENST00000544494.1_De_novo_Start_OutOfFrame|FBXW9_ENST00000393261.3_Missense_Mutation_p.L199M|FBXW9_ENST00000587955.1_Missense_Mutation_p.L189M			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	199					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						AGGTCCCACAAGTTGACGTTG	0.602																																																0													60	67	65					19																	12805491		2043	4197	6240	SO:0001583	missense	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.595T>A	chr19.hg19:g.12805491A>T	ENSP00000369696:p.Leu199Met		B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	hg19		.	.	.	.	.	.	.	.	.	.	A	17.06	3.292183	0.59976	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.66638	-0.22;-0.22	4.24	-0.503	0.12000	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000003	T	0.77745	0.4176	M	0.82132	2.575	0.80722	D	1	D;P;D	0.89917	0.992;0.955;1.0	P;D;D	0.91635	0.899;0.93;0.999	T	0.75825	-0.3181	10	0.56958	D	0.05	-18.2074	8.7017	0.34329	0.4517:0.0:0.5483:0.0	.	189;199;199	Q5XUX1-2;Q5XUX1;Q5XUX1-3	.;FBXW9_HUMAN;.	M	199	ENSP00000376945:L199M;ENSP00000369696:L199M	ENSP00000369696:L199M	L	-	1	2	FBXW9	12666491	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	0.885000	0.28227	0.106000	0.17784	-0.486000	0.04755	TTG		0.602	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		T	12805491	A	T	12805491	3	4	4	1	0	0	0	0	1	0	0	0	5773	69	3	5	813	5	FBXW9	19	12805491	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	1077625	12805491	46323492	128	381											
UNC13A	23025	hgsc.bcm.edu	37	19	17751432	17751432	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr19:17751432C>T	ENST00000519716.2	-	22	2674	c.2675G>A	c.(2674-2676)gGg>gAg	p.G892E	UNC13A_ENST00000550896.1_Missense_Mutation_p.G890E|UNC13A_ENST00000551649.1_Missense_Mutation_p.G892E|UNC13A_ENST00000428389.2_Missense_Mutation_p.G980E|UNC13A_ENST00000252773.7_Missense_Mutation_p.G892E|UNC13A_ENST00000552293.1_Missense_Mutation_p.G892E	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	892					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCAGGCACCCCTGGGCACAT	0.637																																																0													59	69	65					19																	17751432		2187	4272	6459	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2675G>A	chr19.hg19:g.17751432C>T	ENSP00000429562:p.Gly892Glu		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303018	0.60195	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.83837	-1.75;-1.69;-1.75;-1.61;-1.63;-1.77	3.28	3.28	0.37604	.	0.149281	0.45867	U	0.000325	D	0.90092	0.6905	M	0.80746	2.51	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	D	0.91311	0.5074	10	0.87932	D	0	-25.1003	12.4632	0.55743	0.0:1.0:0.0:0.0	.	892	Q9UPW8	UN13A_HUMAN	E	892;980;892;892;892;890	ENSP00000429562:G892E;ENSP00000400409:G980E;ENSP00000252773:G892E;ENSP00000447236:G892E;ENSP00000447572:G892E;ENSP00000446831:G890E	ENSP00000252773:G892E	G	-	2	0	UNC13A	17612432	1.000000	0.71417	0.985000	0.45067	0.602000	0.36980	7.340000	0.79292	1.842000	0.53543	0.186000	0.17326	GGG		0.637	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		T	17751432	C	T	17751432	3	4	4	1	0	0	0	0	1	0	0	0	16989	623	22	2	2524	2	UNC13A	19	17751432	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	4945941	17751432	41377551	129	382											
ZNF229	7772	hgsc.bcm.edu	37	19	44932512	44932512	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr19:44932512T>A	ENST00000588931.1	-	6	2877	c.2444A>T	c.(2443-2445)cAa>cTa	p.Q815L	ZNF229_ENST00000291187.4_Missense_Mutation_p.Q809L|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	815					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGCACTCTTTGGTGGTTCCG	0.473																																																0													89	96	94					19																	44932512		2150	4282	6432	SO:0001583	missense	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.2444A>T	chr19.hg19:g.44932512T>A	ENSP00000466519:p.Gln815Leu		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	hg19	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866557	0.51588	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.62	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25457	0.0619	L	0.35793	1.09	0.27093	N	0.962818	P	0.37997	0.614	B	0.26202	0.067	T	0.13495	-1.0507	8	0.62326	D	0.03	.	11.3701	0.49694	0.0:0.0:0.0:1.0	.	815	Q9UJW7	ZN229_HUMAN	L	815	.	ENSP00000291187:Q815L	Q	-	2	0	ZNF229	49624352	0.430000	0.25538	0.055000	0.19348	0.371000	0.29859	0.889000	0.28282	1.509000	0.48786	0.491000	0.48974	CAA		0.473	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		A	44932512	T	A	44932512	3	1	4	1	0	0	0	0	1	0	0	0	17787	1812	63	5	37	5	ZNF229	19	44932512	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	27181080	44932512	14196471	130	383											
GRIN2D	2906	hgsc.bcm.edu	37	19	48918125	48918125	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr19:48918125C>A	ENST00000263269.3	+	6	1505	c.1417C>A	c.(1417-1419)Cca>Aca	p.P473T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	473					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGCAGCCCTCCACCGGATGC	0.597																																																0													42	49	46					19																	48918125		2203	4300	6503	SO:0001583	missense	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1417C>A	chr19.hg19:g.48918125C>A	ENSP00000263269:p.Pro473Thr			Missense_Mutation	SNP	ENST00000263269.3	hg19	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.952119	0.34471	.	.	ENSG00000105464	ENST00000263269	T	0.11277	2.79	4.36	4.36	0.52297	Ionotropic glutamate receptor (1);	0.596252	0.16331	N	0.219129	T	0.08179	0.0204	N	0.14661	0.345	0.28778	N	0.900003	P	0.42757	0.789	P	0.46110	0.504	T	0.12656	-1.0539	10	0.14656	T	0.56	.	9.899	0.41335	0.0:0.9037:0.0:0.0963	.	473	O15399	NMDE4_HUMAN	T	473	ENSP00000263269:P473T	ENSP00000263269:P473T	P	+	1	0	GRIN2D	53609937	0.913000	0.31002	0.994000	0.49952	0.917000	0.54804	1.202000	0.32271	2.445000	0.82738	0.655000	0.94253	CCA		0.597	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			A	48918125	C	A	48918125	3	1	4	1	0	0	0	0	1	0	0	0	6784	855	30	4	1435	4	GRIN2D	19	48918125	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	3985613	48918125	10210858	131	384											
HSD17B14	51171	hgsc.bcm.edu	37	19	49316501	49316502	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr19:49316501_49316502insC	ENST00000263278.4	-	9	1009_1010	c.743_744insG	c.(742-744)ggtfs	p.G248fs	HSD17B14_ENST00000599157.1_Frame_Shift_Ins_p.G224fs|BCAT2_ENST00000316273.6_5'Flank|BCAT2_ENST00000599246.1_5'Flank|BCAT2_ENST00000598162.1_5'Flank|BCAT2_ENST00000597011.1_5'Flank|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000402551.1_5'Flank	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	248					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CCAGCTCTGCACCCCCCGTCAC	0.658																																																0										2,4256		0,2,2127						-5.4	0.5			23	5,8237		0,5,4116	no	frameshift	HSD17B14	NM_016246.2		0,7,6243	A1A1,A1R,RR		0.0607,0.047,0.056				7,12493				SO:0001589	frameshift_variant	51171			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	23238	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 3", "short chain dehydrogenase/reductase family 47C, member 1"	612832	"dehydrogenase/reductase (SDR family) member 10"	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.744dupG	chr19.hg19:g.49316507_49316507dupC	ENSP00000263278:p.Gly248fs		Q9UKU3	Frame_Shift_Ins	INS	ENST00000263278.4	hg19	CCDS12736.1																																																																																				0.658	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1	NM_016246		C	49316502	-	C	49316501	7	5	4	1	0	1	1	0	0	0	0	0	7385	146	6	0	72	0	HSD17B14	19	49316501	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J3-01A-12D-A382-10	398376	49316501	9812482	132	385											
PLEKHA4	57664	hgsc.bcm.edu	37	19	49341323	49341323	+	Silent	SNP	G	G	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr19:49341323G>T	ENST00000263265.6	-	19	2583	c.2028C>A	c.(2026-2028)ctC>ctA	p.L676L	HSD17B14_ENST00000599157.1_5'Flank|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.L578I|HSD17B14_ENST00000263278.4_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	676						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGCTTGGGAGAGGCTGAGAA	0.562																																																0													78	82	81					19																	49341323		2203	4300	6503	SO:0001819	synonymous_variant	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2028C>A	chr19.hg19:g.49341323G>T			Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	hg19	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	g	18.76	3.692992	0.68271	.	.	ENSG00000105559	ENST00000355496	T	0.19105	2.17	3.97	0.263	0.15602	.	1.342660	0.05462	N	0.551512	T	0.13286	0.0322	.	.	.	0.22266	N	0.999243	B	0.21309	0.054	B	0.22152	0.038	T	0.34030	-0.9845	9	0.29301	T	0.29	.	5.5324	0.16993	0.1144:0.4003:0.4854:0.0	.	578	Q9H4M7-2	.	I	578	ENSP00000347683:L578I	ENSP00000347683:L578I	L	-	1	0	PLEKHA4	54033135	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.127000	0.31357	0.452000	0.26830	0.546000	0.68486	CTC		0.562	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			T	49341323	G	T	49341323	2	4	4	1	0	0	0	0	0	0	0	1	12060	942	33	4		4	PLEKHA4	19	49341323	Silent	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10	24822	49341323	9787660	133	386											
ZNF471	57573	hgsc.bcm.edu	37	19	57035735	57035735	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr19:57035735A>C	ENST00000308031.5	+	5	432	c.299A>C	c.(298-300)cAg>cCg	p.Q100P	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CCTCTGAAGCAGTTCATGTAT	0.368																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											0													87	84	85					19																	57035735		2203	4300	6503	SO:0001583	missense	57573			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.299A>C	chr19.hg19:g.57035735A>C	ENSP00000309161:p.Gln100Pro		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	hg19	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	6.621	0.483070	0.12581	.	.	ENSG00000196263	ENST00000308031	T	0.05649	3.41	3.56	1.43	0.22495	.	.	.	.	.	T	0.06371	0.0164	L	0.31476	0.935	0.09310	N	0.999998	D	0.57257	0.979	P	0.49012	0.598	T	0.34254	-0.9836	9	0.36615	T	0.2	.	3.613	0.08067	0.6493:0.2294:0.1213:0.0	.	100	Q9BX82	ZN471_HUMAN	P	100	ENSP00000309161:Q100P	ENSP00000309161:Q100P	Q	+	2	0	ZNF471	61727547	0.000000	0.05858	0.004000	0.12327	0.558000	0.35554	0.340000	0.19892	0.234000	0.21139	0.460000	0.39030	CAG		0.368	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		C	57035735	A	C	57035735	3	2	4	1	0	0	0	0	1	0	0	0	17935	188	7	5	313	5	ZNF471	19	57035735	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	7694412	57035735	2093248	134	387											
ZNF814	730051	hgsc.bcm.edu	37	19	58385869	58385869	+	Nonsense_Mutation	SNP	C	C	A	rs199684163|rs10687775|rs55789144|rs66767659	byFrequency	TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr19:58385869C>A	ENST00000435989.2	-	3	1123	c.889G>T	c.(889-891)Gaa>Taa	p.E297*	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	297					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCCACATTCATGTTTTTTT	0.363																																																0													5	4	5					19																	58385869		591	1308	1899	SO:0001587	stop_gained	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.889G>T	chr19.hg19:g.58385869C>A	ENSP00000410545:p.Glu297*		A6NF35	Nonsense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.839119	0.91117	.	.	ENSG00000204514	ENST00000435989	.	.	.	1.93	-3.87	0.04218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6944	0.00896	0.1754:0.2303:0.1739:0.4204	.	.	.	.	X	297	.	ENSP00000410545:E297X	E	-	1	0	ZNF814	63077681	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-0.792000	0.04594	-0.856000	0.04120	0.121000	0.15741	GAA		0.363	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		A	58385869	C	A	58385869	4	1	4	1	0	0	0	0	0	1	0	0	18181	835	29	4	1682	4	ZNF814	19	58385869	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10	1350134	58385869	743114	135	388											
CST2	1470	hgsc.bcm.edu	37	20	23805942	23805942	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr20:23805942A>T	ENST00000304725.2	-	2	317	c.247T>A	c.(247-249)Tac>Aac	p.Y83N		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	83					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.Y83D(1)		breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TCGAAGAAGTAATTCACCCCG	0.537																																					Pancreas(193;496 3017 22514 29918)											1	Substitution - Missense(1)	skin(1)											274	212	233					20																	23805942		2203	4300	6503	SO:0001583	missense	1470			M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.247T>A	chr20.hg19:g.23805942A>T	ENSP00000307540:p.Tyr83Asn		Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	hg19	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069071	0.36470	.	.	ENSG00000170369	ENST00000304725	T	0.43688	0.94	2.36	2.36	0.29203	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.075028	0.56097	U	0.000033	T	0.69744	0.3145	H	0.95982	3.75	0.09310	N	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.60591	-0.7233	10	0.87932	D	0	.	6.5923	0.22654	1.0:0.0:0.0:0.0	.	83	P09228	CYTT_HUMAN	N	83	ENSP00000307540:Y83N	ENSP00000307540:Y83N	Y	-	1	0	CST2	23753942	0.227000	0.23707	0.027000	0.17364	0.002000	0.02628	2.917000	0.48821	1.087000	0.41251	0.254000	0.18369	TAC		0.537	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			T	23805942	A	T	23805942	3	4	4	1	0	0	0	0	1	0	0	0	3974	362	13	5	186	5	CST2	20	23805942	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10		23805942	39219578	136	389											
RNF114	55905	hgsc.bcm.edu	37	20	48562762	48562762	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr20:48562762T>A	ENST00000244061.2	+	4	490	c.488T>A	c.(487-489)tTc>tAc	p.F163Y		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	163					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						TGCAAATTATTCCATAGCACG	0.393																																																0													96	81	86					20																	48562762		2203	4300	6503	SO:0001583	missense	55905			AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"RING-type (C3HC4) zinc fingers"	13094	protein-coding gene	gene with protein product		612451	"zinc finger protein 313"	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.488T>A	chr20.hg19:g.48562762T>A	ENSP00000244061:p.Phe163Tyr		B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	hg19	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	T	2.824	-0.244101	0.05906	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	T	0.79352	-1.26	5.97	-0.203	0.13204	Zinc finger, C2H2-like (1);Drought induced 19/ RING finger protein 114 (1);	1.127120	0.06197	N	0.682425	T	0.50888	0.1642	N	0.11789	0.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42498	-0.9448	10	0.02654	T	1	4.9286	0.9014	0.01275	0.2089:0.2819:0.1149:0.3943	.	163;163	Q9Y508-2;Q9Y508	.;RN114_HUMAN	Y	163	ENSP00000244061:F163Y	ENSP00000244061:F163Y	F	+	2	0	RNF114	47996169	0.000000	0.05858	0.011000	0.14972	0.973000	0.67179	0.164000	0.16542	0.061000	0.16311	-0.242000	0.12053	TTC		0.393	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	NM_018683		A	48562762	T	A	48562762	3	1	4	1	0	0	0	0	1	0	0	0	13435	1783	62	5	502	5	RNF114	20	48562762	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	24756820	48562762	14462758	137	390											
IFNAR1	3454	hgsc.bcm.edu	37	21	34707892	34707892	+	Silent	SNP	C	C	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr21:34707892C>T	ENST00000270139.3	+	2	291	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	IFNAR1_ENST00000442357.2_Silent_p.L47L|IFNAR1_ENST00000493503.1_3'UTR|IFNAR1_ENST00000416947.2_5'UTR	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	47	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	CAACTTTATCCTGAGGTGGAA	0.353																																					Esophageal Squamous(73;817 1211 32990 35667 42746)											0													135	122	126					21																	34707892		2203	4300	6503	SO:0001819	synonymous_variant	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.139C>T	chr21.hg19:g.34707892C>T			B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Silent	SNP	ENST00000270139.3	hg19	CCDS13624.1																																																																																				0.353	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			T	34707892	C	T	34707892	2	4	4	1	0	0	0	0	0	0	0	1	7546	680	24	2		2	IFNAR1	21	34707892	Silent	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10		34707892	13422003	138	391											
DYRK1A	1859	hgsc.bcm.edu	37	21	38865374	38865374	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr21:38865374T>C	ENST00000398960.2	+	7	1082	c.1007T>C	c.(1006-1008)aTg>aCg	p.M336T	DYRK1A_ENST00000338785.3_Missense_Mutation_p.M336T|DYRK1A_ENST00000321219.8_Missense_Mutation_p.M336T|DYRK1A_ENST00000339659.4_Missense_Mutation_p.M327T|DYRK1A_ENST00000455387.2_Missense_Mutation_p.M108T|DYRK1A_ENST00000451934.1_Missense_Mutation_p.M336T|DYRK1A_ENST00000398956.2_Missense_Mutation_p.M336T	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTACTGGGAATGCCTTATGAC	0.398																																					Melanoma(114;464 1602 31203 43785 45765)											0													171	157	161					21																	38865374		2203	4300	6503	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1007T>C	chr21.hg19:g.38865374T>C	ENSP00000381932:p.Met336Thr		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	hg19	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.895956	0.52121	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	N	0.20766	0.605	0.80722	D	1	B;B;B;B;B	0.18166	0.026;0.026;0.0;0.0;0.026	B;B;B;B;B	0.21360	0.034;0.034;0.003;0.002;0.034	T	0.40156	-0.9578	10	0.24483	T	0.36	.	16.3786	0.83431	0.0:0.0:0.0:1.0	.	336;336;336;327;336	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	T	336;327;336;336;336;336;108	ENSP00000342690:M336T;ENSP00000340373:M327T;ENSP00000319032:M336T;ENSP00000416089:M336T;ENSP00000381932:M336T;ENSP00000381929:M336T;ENSP00000407854:M108T	ENSP00000319032:M336T	M	+	2	0	DYRK1A	37787244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.323000	0.78572	0.528000	0.53228	ATG		0.398	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		C	38865374	T	C	38865374	3	2	4	1	0	0	0	0	1	0	0	0	4856	1464	51	3	1033	3	DYRK1A	21	38865374	Missense_Mutation	SNP	T	TCGA-2Z-A9J3-01A-12D-A382-10	4157482	38865374	9264521	139	392											
MORC2	22880	hgsc.bcm.edu	37	22	31331124	31331124	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr22:31331124G>A	ENST00000397641.3	-	19	2245	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000469915.1_5'Flank|MORC2_ENST00000215862.4_Missense_Mutation_p.P551S			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	613						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGCGACCGAGGACGCTGAGGT	0.587																																																0													33	35	34					22																	31331124		2203	4300	6503	SO:0001583	missense	22880			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.1837C>T	chr22.hg19:g.31331124G>A	ENSP00000380763:p.Pro613Ser		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	hg19		.	.	.	.	.	.	.	.	.	.	G	22.1	4.246432	0.80024	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.13657	2.58;2.57	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00870	-1.1533	10	0.32370	T	0.25	.	18.1401	0.89637	0.0:0.0:1.0:0.0	.	613	Q9Y6X9	MORC2_HUMAN	S	613;551	ENSP00000380763:P613S;ENSP00000215862:P551S	ENSP00000215862:P551S	P	-	1	0	MORC2	29661124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.984000	0.88150	2.726000	0.93360	0.655000	0.94253	CCT		0.587	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		A	31331124	G	A	31331124	3	1	4	1	0	0	0	0	1	0	0	0	9704	1174	41	2	1293	2	MORC2	22	31331124	Missense_Mutation	SNP	G	TCGA-2Z-A9J3-01A-12D-A382-10		31331124	19973442	140	393											
MYH9	4627	hgsc.bcm.edu	37	22	36702564	36702570	+	Frame_Shift_Del	DEL	TGCGGAA	TGCGGAA	-			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	TGCGGAA	TGCGGAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chr22:36702564_36702570delTGCGGAA	ENST00000216181.5	-	16	2157_2163	c.1927_1933delTTCCGCA	c.(1927-1935)ttccgcactfs	p.FRT643fs		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	643	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGCCCCACAGTGCGGAACATGCCCTTC	0.618			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0																																										SO:0001589	frameshift_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1927_1933delTTCCGCA	chr22.hg19:g.36702564_36702570delTGCGGAA	ENSP00000216181:p.Phe643fs		A8K6E4|O60805|Q60FE2|Q86T83	Frame_Shift_Del	DEL	ENST00000216181.5	hg19	CCDS13927.1																																																																																				0.618	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		-	36702570	TGCGGAA	-	36702564	7	5	4	1	0	1	0	1	0	0	0	0	10044	1696	59	0	4053	0	MYH9	22	36702564	Frame_Shift_Del	DEL	TGCGGAA	TCGA-2Z-A9J3-01A-12D-A382-10	5371440	36702564	14602002	141	394											
OFD1	8481	hgsc.bcm.edu	37	X	13779314	13779314	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chrX:13779314C>A	ENST00000340096.6	+	17	2698	c.2371C>A	c.(2371-2373)Ccg>Acg	p.P791T	OFD1_ENST00000380567.1_Missense_Mutation_p.P651T|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.P751T	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	791	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTCCAGCCCTCCGGAGCAGAA	0.488																																																0													105	81	89					X																	13779314		2203	4300	6503	SO:0001583	missense	8481			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2371C>A	chrX.hg19:g.13779314C>A	ENSP00000344314:p.Pro791Thr		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	hg19	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.112891	0.00353	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.95622	-3.76;-3.76;-1.63	5.03	-1.66	0.08265	.	0.918676	0.09274	N	0.824684	D	0.90463	0.7013	L	0.56769	1.78	0.09310	N	1	B;P;B;B;B	0.38370	0.004;0.628;0.021;0.007;0.004	B;B;B;B;B	0.34489	0.005;0.184;0.009;0.009;0.005	T	0.79300	-0.1860	10	0.13853	T	0.58	4.1682	4.147	0.10220	0.3081:0.4058:0.2115:0.0746	.	791;751;459;651;791	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	T	751;791;651	ENSP00000369923:P751T;ENSP00000344314:P791T;ENSP00000369941:P651T	ENSP00000344314:P791T	P	+	1	0	OFD1	13689235	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.462000	0.06704	-1.265000	0.02449	-2.646000	0.00150	CCG		0.488	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		A	13779314	C	A	13779314	3	1	4	1	0	0	0	0	1	0	0	0	10840	855	30	4	2437	4	OFD1	23	13779314	Missense_Mutation	SNP	C	TCGA-2Z-A9J3-01A-12D-A382-10		13779314	141491246	142	395											
AR	367	hgsc.bcm.edu	37	X	66765164	66765164	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J3-01A-12D-A382-10	TCGA-2Z-A9J3-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	32cc4455-b4d6-47b7-8121-6a41d2f6aec3	72bef80f-14ac-48e0-b629-117038e12a5c	g.chrX:66765164A>T	ENST00000374690.3	+	1	700	c.176A>T	c.(175-177)cAg>cTg	p.Q59L	AR_ENST00000504326.1_Missense_Mutation_p.Q59L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q59L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	59	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTgcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																																							0													7	10	9					X																	66765164		2055	4063	6118	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.176A>T	chrX.hg19:g.66765164A>T	ENSP00000363822:p.Gln59Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.901651	0.33535	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69175	-0.38;-0.38;-0.38	.	.	.	.	1.117170	0.06949	N	0.814177	T	0.47060	0.1425	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.31724	-0.9933	8	0.13108	T	0.6	.	.	.	.	.	59;59	E7EVX6;D3YPQ2	.;.	L	59	ENSP00000363822:Q59L;ENSP00000421155:Q59L;ENSP00000379359:Q59L	ENSP00000363822:Q59L	Q	+	2	0	AR	66681889	0.995000	0.38212	0.864000	0.33941	0.503000	0.33858	0.245000	0.18142	0.000000	0.14550	0.000000	0.15137	CAG		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765164	A	T	66765164	3	4	4	1	0	0	0	0	1	0	0	0	836	188	7	5	178	5	AR	23	66765164	Missense_Mutation	SNP	A	TCGA-2Z-A9J3-01A-12D-A382-10	52985850	66765164	88505396	143	396											
PRAMEF1	65121	hgsc.bcm.edu	37	1	12854459	12854459	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:12854459T>G	ENST00000332296.7	+	3	786	c.683T>G	c.(682-684)cTg>cGg	p.L228R	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	228					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)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		CGTTGTTACCTGAAGGAGATG	0.413																																																0													199	196	197					1																	12854459		2202	4293	6495	SO:0001583	missense	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.683T>G	chr1.hg19:g.12854459T>G	ENSP00000332134:p.Leu228Arg		Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	hg19	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.778239	0.31502	.	.	ENSG00000116721	ENST00000332296	T	0.01279	5.06	1.61	1.61	0.23674	.	0.000000	0.64402	D	0.000019	T	0.07098	0.0180	M	0.86953	2.85	0.18873	N	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.04811	-1.0925	10	0.87932	D	0	.	5.2932	0.15739	0.0:0.0:0.0:1.0	.	228	O95521	PRAM1_HUMAN	R	228	ENSP00000332134:L228R	ENSP00000332134:L228R	L	+	2	0	PRAMEF1	12777046	0.002000	0.14202	0.009000	0.14445	0.014000	0.08584	1.259000	0.32956	0.987000	0.38709	0.358000	0.22013	CTG		0.413	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		G	12854459	T	G	12854459	3	3	5	1	0	0	0	0	1	0	0	0	12430	1580	55	5	689	5	PRAMEF1	1	12854459	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10		12854459	236396162	1	397											
RHCE	6006	hgsc.bcm.edu	37	1	25718532	25718532	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:25718532T>C	ENST00000294413.7	-	4	645	c.587A>G	c.(586-588)gAg>gGg	p.E196G	RHCE_ENST00000346452.4_Intron|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.E180G|RHCE_ENST00000413854.1_Missense_Mutation_p.E196G|RHCE_ENST00000243186.6_Missense_Mutation_p.E196G|RHCE_ENST00000349438.4_Missense_Mutation_p.E196G|RHCE_ENST00000425135.1_Missense_Mutation_p.E196G|RHCE_ENST00000349320.3_Missense_Mutation_p.E180G|RHCE_ENST00000340849.4_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	196						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		ATCATTATCCTCCGTTCCCTT	0.537																																																0													285	226	246					1																	25718532		2203	4300	6503	SO:0001583	missense	6006			BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"CD molecules", "Blood group antigens"	10008	protein-coding gene	gene with protein product		111700	"Rhesus blood group, CcEe antigens"	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.587A>G	chr1.hg19:g.25718532T>C	ENSP00000294413:p.Glu196Gly		A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	hg19	CCDS30635.1	.	.	.	.	.	.	.	.	.	.	t	10.89	1.478742	0.26511	.	.	ENSG00000188672	ENST00000413854;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000349320;ENST00000294413;ENST00000447203;ENST00000349438	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	3.99	1.46	0.22682	Ammonium transporter AmtB-like (3);	1.495710	0.03510	N	0.219354	T	0.31670	0.0804	L	0.49699	1.58	0.09310	N	1	B;B;P	0.39809	0.004;0.004;0.689	B;B;P	0.51657	0.033;0.02;0.676	T	0.13019	-1.0525	10	0.40728	T	0.16	-0.1541	3.4811	0.07602	0.2098:0.1119:0.0:0.6784	.	180;196;196	Q5VSJ9;Q5VSJ8;P18577	.;.;RHCE_HUMAN	G	196;180;196;196;180;196;196;196	ENSP00000415417:E196G;ENSP00000363472:E180G;ENSP00000243186:E196G;ENSP00000392809:E196G;ENSP00000311185:E180G;ENSP00000294413:E196G;ENSP00000334570:E196G	ENSP00000243186:E196G	E	-	2	0	RHCE	25591119	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.027000	0.12371	0.150000	0.19136	0.459000	0.35465	GAG		0.537	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		C	25718532	T	C	25718532	3	2	5	1	0	0	0	0	1	0	0	0	13331	1551	54	3	694	3	RHCE	1	25718532	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	12864073	25718532	223532089	2	398											
AIM1L	55057	hgsc.bcm.edu	37	1	26665868	26665868	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:26665868T>C	ENST00000308182.5	-	5	551	c.122A>G	c.(121-123)gAg>gGg	p.E41G	AIM1L_ENST00000522993.1_5'Flank|AIM1L_ENST00000527815.1_Missense_Mutation_p.E212G			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	41	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTTCACTTGCTCCCCCTTGAG	0.552																																																0													68	74	72					1																	26665868		2203	4300	6503	SO:0001583	missense	55057					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.122A>G	chr1.hg19:g.26665868T>C	ENSP00000310435:p.Glu41Gly		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	hg19		.	.	.	.	.	.	.	.	.	.	T	6.765	0.510112	0.12883	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.76839	-1.05;-1.05	5.26	1.53	0.23141	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.358794	0.28940	N	0.013650	T	0.69780	0.3149	M	0.64997	1.995	0.54753	D	0.999987	B	0.34103	0.437	B	0.33846	0.171	T	0.61811	-0.6986	10	0.31617	T	0.26	.	7.8916	0.29682	0.1101:0.0:0.3649:0.525	.	41	Q8N1P7	AIM1L_HUMAN	G	212;41	ENSP00000433931:E212G;ENSP00000310435:E41G	ENSP00000310435:E41G	E	-	2	0	AIM1L	26538455	1.000000	0.71417	0.883000	0.34634	0.302000	0.27658	2.050000	0.41297	0.390000	0.25115	-2.293000	0.00265	GAG		0.552	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		C	26665868	T	C	26665868	3	2	5	1	0	0	0	0	1	0	0	0	431	1551	54	3	1788	3	AIM1L	1	26665868	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	947336	26665868	222584753	3	399											
ARID1A	8289	hgsc.bcm.edu	37	1	27056349	27056349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:27056349C>T	ENST00000324856.7	+	2	1716	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q66*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q449*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	449					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTCTTATACACAGCAGGTAGA	0.557			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													33	36	35					1																	27056349		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1345C>T	chr1.hg19:g.27056349C>T	ENSP00000320485:p.Gln449*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	hg19	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	37	6.225161	0.97390	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	.	.	.	5.94	5.94	0.96194	.	0.056021	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-6.9651	20.3771	0.98923	0.0:1.0:0.0:0.0	.	.	.	.	X	449;449;66;66	.	ENSP00000320485:Q449X	Q	+	1	0	ARID1A	26928936	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.217000	0.77982	2.824000	0.97209	0.650000	0.86243	CAG		0.557	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27056349	C	T	27056349	4	4	5	1	0	0	0	0	0	1	0	0	913	479	17	2	1351	2	ARID1A	1	27056349	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	390481	27056349	222194272	4	400											
AGL	178	hgsc.bcm.edu	37	1	100340327	100340327	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:100340327T>A	ENST00000294724.4	+	8	1521	c.1043T>A	c.(1042-1044)gTa>gAa	p.V348E	AGL_ENST00000361522.4_Missense_Mutation_p.V331E|AGL_ENST00000370161.2_Missense_Mutation_p.V332E|AGL_ENST00000477753.1_3'UTR|AGL_ENST00000361302.3_Missense_Mutation_p.V332E|AGL_ENST00000370165.3_Missense_Mutation_p.V348E|AGL_ENST00000370163.3_Missense_Mutation_p.V348E|AGL_ENST00000361915.3_Missense_Mutation_p.V348E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	348					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGCTGTACTGTAGATATGAAC	0.338																																																0													141	124	130					1																	100340327		2203	4300	6503	SO:0001583	missense	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1043T>A	chr1.hg19:g.100340327T>A	ENSP00000294724:p.Val348Glu		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	hg19	CCDS759.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594592	0.66219	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	4.84	4.84	0.62591	Glycoside hydrolase, superfamily (1);	0.137739	0.48767	D	0.000175	D	0.90280	0.6960	M	0.83012	2.62	0.80722	D	1	D;D;P	0.53619	0.961;0.961;0.796	P;P;P	0.61940	0.896;0.896;0.701	D	0.92046	0.5644	10	0.87932	D	0	.	14.6928	0.69098	0.0:0.0:0.0:1.0	.	331;332;348	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	E	348;348;348;348;332;332;331	ENSP00000355106:V348E;ENSP00000359184:V348E;ENSP00000359182:V348E;ENSP00000294724:V348E;ENSP00000354971:V332E;ENSP00000359180:V332E;ENSP00000354635:V331E	ENSP00000294724:V348E	V	+	2	0	AGL	100112915	1.000000	0.71417	0.612000	0.29024	0.342000	0.28953	6.856000	0.75450	1.933000	0.56026	0.477000	0.44152	GTA		0.338	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		A	100340327	T	A	100340327	3	1	5	1	0	0	0	0	1	0	0	0	384	1638	57	5	1138	5	AGL	1	100340327	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	73283978	100340327	148910294	5	401											
RPTN	126638	hgsc.bcm.edu	37	1	152128604	152128604	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:152128604C>T	ENST00000316073.3	-	3	1035	c.971G>A	c.(970-972)aGa>aAa	p.R324K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	324	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGGCCTTGTCTGTCCGTCTG	0.493																																																0													742	647	676					1																	152128604		1568	3582	5150	SO:0001583	missense	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.971G>A	chr1.hg19:g.152128604C>T	ENSP00000317895:p.Arg324Lys		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	hg19	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	c	10.67	1.414408	0.25465	.	.	ENSG00000215853	ENST00000316073	T	0.12879	2.64	4.56	-1.55	0.08558	.	.	.	.	.	T	0.07683	0.0193	L	0.58428	1.81	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.17228	-1.0376	9	0.06099	T	0.92	.	1.7411	0.02952	0.1409:0.4549:0.1381:0.2662	.	324	Q6XPR3	RPTN_HUMAN	K	324	ENSP00000317895:R324K	ENSP00000317895:R324K	R	-	2	0	RPTN	150395228	0.176000	0.23096	0.007000	0.13788	0.295000	0.27426	0.448000	0.21726	-0.262000	0.09392	0.393000	0.25936	AGA		0.493	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		T	152128604	C	T	152128604	3	4	5	1	0	0	0	0	1	0	0	0	13670	913	32	2	1387	2	RPTN	1	152128604	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	51788277	152128604	97122017	6	402											
DHX9	1660	hgsc.bcm.edu	37	1	182828229	182828229	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:182828229G>A	ENST00000367549.3	+	11	1227	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	373	MTAD.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTACCAGTTGGAACAGGATCA	0.378																																					Colon(69;210 1162 3697 13559 39565)											0													116	104	108					1																	182828229		1867	4116	5983	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1117G>A	chr1.hg19:g.182828229G>A	ENSP00000356520:p.Glu373Lys		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125740	0.56721	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.03580	3.88	5.9	5.9	0.94986	.	0.066463	0.64402	D	0.000009	T	0.03871	0.0109	N	0.19112	0.55	0.58432	D	0.999999	B	0.15719	0.014	B	0.09377	0.004	T	0.55147	-0.8186	10	0.29301	T	0.29	.	18.0703	0.89404	0.0:0.0:1.0:0.0	.	373	Q08211	DHX9_HUMAN	K	373	ENSP00000356520:E373K	ENSP00000356520:E373K	E	+	1	0	DHX9	181094852	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.439000	0.73430	2.786000	0.95864	0.563000	0.77884	GAA		0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		A	182828229	G	A	182828229	3	1	5	1	0	0	0	0	1	0	0	0	4518	1175	41	2	1155	2	DHX9	1	182828229	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	30699625	182828229	66422392	7	403											
CR1	1378	hgsc.bcm.edu	37	1	207782641	207782641	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:207782641C>T	ENST00000367049.4	+	37	5903	c.5903C>T	c.(5902-5904)tCt>tTt	p.S1968F	CR1_ENST00000367051.1_Missense_Mutation_p.S1518F|CR1_ENST00000400960.2_Missense_Mutation_p.S1518F|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.S1518F|CR1_ENST00000367053.1_Missense_Mutation_p.S1518F|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1518					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCAGTCATATCTTGTGAGCCA	0.348																																																0													87	84	85					1																	207782641		1871	4106	5977	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5903C>T	chr1.hg19:g.207782641C>T	ENSP00000356016:p.Ser1968Phe		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	hg19	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	9.427	1.084621	0.20309	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	2.66	0.685	0.18009	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.33847	0.0877	L	0.41492	1.28	0.09310	N	1	P;D;D	0.71674	0.848;0.998;0.995	B;D;P	0.77004	0.247;0.989;0.844	T	0.12863	-1.0531	9	0.59425	D	0.04	.	3.1826	0.06589	0.2595:0.5917:0.0:0.1488	.	1518;1518;1968	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	F	1518;1518;1518;1518;1068;1968	ENSP00000356019:S1518F;ENSP00000356018:S1518F;ENSP00000356020:S1518F;ENSP00000383744:S1518F;ENSP00000436139:S1068F;ENSP00000356016:S1968F	ENSP00000356016:S1968F	S	+	2	0	CR1	205849264	0.075000	0.21258	0.002000	0.10522	0.048000	0.14542	0.375000	0.20518	0.176000	0.19873	0.555000	0.69702	TCT		0.348	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		T	207782641	C	T	207782641	3	4	5	1	0	0	0	0	1	0	0	0	3842	913	32	2	6049	2	CR1	1	207782641	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	24954412	207782641	41467980	8	404											
HSD11B1	3290	hgsc.bcm.edu	37	1	209907854	209907854	+	Silent	SNP	C	C	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:209907854C>T	ENST00000367028.2	+	7	1036	c.867C>T	c.(865-867)ttC>ttT	p.F289F	HSD11B1_ENST00000367027.3_Silent_p.F289F|HSD11B1_ENST00000261465.1_Silent_p.F289F	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	289					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	TGGACAGATTCATAAACAAGT	0.433																																																0													88	86	87					1																	209907854		2203	4300	6503	SO:0001819	synonymous_variant	3290			BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5208	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 26C, member 1"	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.867C>T	chr1.hg19:g.209907854C>T			B2R9Z1|D3DT89	Silent	SNP	ENST00000367028.2	hg19	CCDS1489.1																																																																																				0.433	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		T	209907854	C	T	209907854	2	4	5	1	0	0	0	0	0	0	0	1	7377	825	29	2		2	HSD11B1	1	209907854	Silent	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	2125213	209907854	39342767	9	405											
OBSCN	84033	hgsc.bcm.edu	37	1	228506775	228506775	+	Silent	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:228506775G>A	ENST00000422127.1	+	54	14366	c.14322G>A	c.(14320-14322)gaG>gaA	p.E4774E	OBSCN_ENST00000284548.11_Silent_p.E4774E|OBSCN_ENST00000570156.2_Silent_p.E5731E|OBSCN_ENST00000366709.4_Silent_p.E1893E|OBSCN_ENST00000366707.4_Silent_p.E2408E	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4774					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCCACAGGAGGCAGAGGAGG	0.642																																																0													26	31	29					1																	228506775		2199	4289	6488	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14322G>A	chr1.hg19:g.228506775G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	hg19	CCDS58065.1																																																																																				0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228506775	G	A	228506775	2	1	5	1	0	0	0	0	0	0	0	1	10814	991	35	2		2	OBSCN	1	228506775	Silent	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	18598921	228506775	20743846	10	406											
RYR2	6262	hgsc.bcm.edu	37	1	237791158	237791159	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:237791158_237791159insT	ENST00000366574.2	+	41	6535_6536	c.6218_6219insT	c.(6217-6222)tctgtcfs	p.V2074fs	RYR2_ENST00000360064.6_Frame_Shift_Ins_p.V2072fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.V2058fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2074	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCAGGAGTCTGTCATTGAAG	0.49																																																0																																										SO:0001589	frameshift_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6219dupT	chr1.hg19:g.237791159_237791159dupT	ENSP00000355533:p.Val2074fs		Q15411|Q546N8|Q5T3P2	Frame_Shift_Ins	INS	ENST00000366574.2	hg19	CCDS55691.1																																																																																				0.49	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237791159	-	T	237791158	7	5	5	1	0	1	1	0	0	0	0	0	13775	913	32	0	6380	0	RYR2	1	237791158	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J5-01A-21D-A382-10	9284383	237791158	11459463	11	407											
PLD5	200150	hgsc.bcm.edu	37	1	242383316	242383316	+	Missense_Mutation	SNP	C	C	A	rs552058954	byFrequency	TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr1:242383316C>A	ENST00000536534.2	-	5	950	c.709G>T	c.(709-711)Ggt>Tgt	p.G237C	PLD5_ENST00000427495.1_Missense_Mutation_p.G175C|PLD5_ENST00000442594.2_Missense_Mutation_p.G145C			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	237	PLD phosphodiesterase 1.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAGTCCAAACCGGCACTGCCG	0.517																																																0													114	98	103					1																	242383316		2203	4300	6503	SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.709G>T	chr1.hg19:g.242383316C>A	ENSP00000440896:p.Gly237Cys		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	hg19	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084149	0.55861	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.13778	2.56;2.56;2.56	5.58	-1.11	0.09840	Phospholipase D/Transphosphatidylase (1);	0.233267	0.48286	D	0.000186	T	0.15739	0.0379	N	0.22421	0.69	0.26533	N	0.974214	D;D;D	0.65815	0.995;0.975;0.995	P;P;P	0.60949	0.881;0.571;0.667	T	0.08827	-1.0703	10	0.87932	D	0	-2.9252	8.6192	0.33851	0.0:0.348:0.0:0.652	.	145;237;175	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	C	175;145;237	ENSP00000401285:G175C;ENSP00000414188:G145C;ENSP00000440896:G237C	ENSP00000401285:G175C	G	-	1	0	PLD5	240449939	0.119000	0.22226	0.141000	0.22245	0.912000	0.54170	0.959000	0.29240	-0.136000	0.11475	-0.136000	0.14681	GGT		0.517	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		A	242383316	C	A	242383316	3	1	5	1	0	0	0	0	1	0	0	0	12051	652	23	4	925	4	PLD5	1	242383316	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	4592158	242383316	6867305	12	408											
BIRC6	57448	hgsc.bcm.edu	37	2	32631577	32631577	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr2:32631577C>A	ENST00000421745.2	+	9	1563	c.1429C>A	c.(1429-1431)Ctg>Atg	p.L477M		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	477					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGATGATTTACTGGAGGATTC	0.284																																					Pancreas(94;175 1509 16028 18060 45422)											0													69	76	74					2																	32631577		2203	4299	6502	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1429C>A	chr2.hg19:g.32631577C>A	ENSP00000393596:p.Leu477Met		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659685	0.29515	.	.	ENSG00000115760	ENST00000421745	T	0.79653	-1.29	5.54	4.66	0.58398	.	0.000000	0.64402	D	0.000014	T	0.73071	0.3540	N	0.22421	0.69	0.38105	D	0.937395	P	0.48162	0.906	P	0.46758	0.526	T	0.75847	-0.3173	10	0.40728	T	0.16	.	12.9011	0.58125	0.0:0.867:0.0:0.133	.	477	Q9NR09	BIRC6_HUMAN	M	477	ENSP00000393596:L477M	ENSP00000393596:L477M	L	+	1	2	BIRC6	32485081	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	0.299000	0.19138	2.607000	0.88179	0.585000	0.79938	CTG		0.284	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32631577	C	A	32631577	3	1	5	1	0	0	0	0	1	0	0	0	1438	564	20	4	1463	4	BIRC6	2	32631577	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10		32631577	210567796	13	409											
ELMOD3	84173	hgsc.bcm.edu	37	2	85617285	85617285	+	Silent	SNP	C	C	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr2:85617285C>A	ENST00000409890.2	+	13	1507	c.840C>A	c.(838-840)gtC>gtA	p.V280V	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Silent_p.V280V|ELMOD3_ENST00000393852.4_Silent_p.V280V|ELMOD3_ENST00000409013.3_Silent_p.V280V|ELMOD3_ENST00000315658.7_Silent_p.V280V			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	280	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGCAGAAGGTCATCCCCGTGG	0.572																																																0													103	84	90					2																	85617285		2203	4300	6503	SO:0001819	synonymous_variant	84173			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"RNA binding motif (RRM) containing"	26158	protein-coding gene	gene with protein product		615427	"RNA binding motif protein 29", "RNA binding motif and ELMO/CED-12 domain 1", "deafness, autosomal recessive 88"	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.840C>A	chr2.hg19:g.85617285C>A			B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Silent	SNP	ENST00000409890.2	hg19	CCDS46352.1																																																																																				0.572	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		A	85617285	C	A	85617285	2	1	5	1	0	0	0	0	0	0	0	1	5072	813	29	4		4	ELMOD3	2	85617285	Silent	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	52985708	85617285	157582088	14	410											
FOXD4L1	200350	hgsc.bcm.edu	37	2	114257882	114257882	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr2:114257882G>A	ENST00000306507.5	+	1	1222	c.1049G>A	c.(1048-1050)aGc>aAc	p.S350N		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	350					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						ACCGCGTGGAGCTACTGCCCC	0.627																																																0													18	24	22					2																	114257882		2081	4032	6113	SO:0001583	missense	200350			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.1049G>A	chr2.hg19:g.114257882G>A	ENSP00000302756:p.Ser350Asn		B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	hg19	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	8.149	0.786951	0.16189	.	.	ENSG00000184492	ENST00000306507	D	0.94650	-3.48	2.37	2.37	0.29283	.	0.222365	0.21869	U	0.067914	D	0.86648	0.5983	N	0.24115	0.695	0.23841	N	0.996697	B	0.29432	0.244	B	0.26864	0.074	T	0.75013	-0.3467	10	0.19590	T	0.45	.	8.2663	0.31815	0.0:0.0:1.0:0.0	.	350	Q9NU39	FX4L1_HUMAN	N	350	ENSP00000302756:S350N	ENSP00000302756:S350N	S	+	2	0	FOXD4L1	113974352	0.973000	0.33851	0.872000	0.34217	0.242000	0.25591	3.399000	0.52586	1.337000	0.45525	0.184000	0.17185	AGC		0.627	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		A	114257882	G	A	114257882	3	1	5	1	0	0	0	0	1	0	0	0	6002	971	34	2	1051	2	FOXD4L1	2	114257882	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	28640597	114257882	128941491	15	411											
TUBA3D	113457	hgsc.bcm.edu	37	2	132240242	132240242	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr2:132240242G>A	ENST00000321253.6	+	5	1281	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	MZT2A_ENST00000410036.2_5'Flank	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	392			D -> V (in dbSNP:rs17076703).		'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGCCCGCCTGGACCATAAGTT	0.652																																					Ovarian(137;2059 2432 35543 39401)											0													106	105	106					2																	132240242		2203	4300	6503	SO:0001583	missense	113457			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1174G>A	chr2.hg19:g.132240242G>A	ENSP00000326042:p.Asp392Asn		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	hg19	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	12.98	2.099992	0.37048	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	D	0.84070	-1.8	2.41	2.41	0.29592	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.47852	U	0.000215	T	0.75591	0.3870	N	0.21097	0.63	0.46874	D	0.999238	B	0.09022	0.002	B	0.35931	0.214	T	0.73883	-0.3842	10	0.66056	D	0.02	.	10.5186	0.44905	0.0:0.0:1.0:0.0	.	392	Q13748	TBA3C_HUMAN	N	392	ENSP00000326042:D392N	ENSP00000326042:D392N	D	+	1	0	TUBA3D	131956712	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.072000	0.76777	1.334000	0.45468	0.194000	0.17425	GAC		0.652	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		A	132240242	G	A	132240242	3	1	5	1	0	0	0	0	1	0	0	0	16752	1174	41	2	1192	2	TUBA3D	2	132240242	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	17982360	132240242	110959131	16	412											
CDK15	65061	hgsc.bcm.edu	37	2	202698681	202698681	+	Silent	SNP	A	A	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr2:202698681A>G	ENST00000374598.4	+	7	717	c.717A>G	c.(715-717)aaA>aaG	p.K239K	CDK15_ENST00000410091.3_Silent_p.K188K|CDK15_ENST00000450471.2_Silent_p.K239K|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Silent_p.K239K|CDK15_ENST00000260967.2_Silent_p.K188K			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAGAGCTCAAACTGGCTGATT	0.512																																																0													116	102	107					2																	202698681		2203	4300	6503	SO:0001819	synonymous_variant	65061			AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"Cyclin-dependent kinases"	14434	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7", "PFTAIRE protein kinase 2"	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.717A>G	chr2.hg19:g.202698681A>G			A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	hg19																																																																																					0.512	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			G	202698681	A	G	202698681	2	3	5	1	0	0	0	0	0	0	0	1	3133	40	2	3		3	CDK15	2	202698681	Silent	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10	70458439	202698681	40500692	17	413											
SCN10A	6336	hgsc.bcm.edu	37	3	38739055	38739055	+	Frame_Shift_Del	DEL	C	C	-	rs148979438	byFrequency	TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr3:38739055delC	ENST00000449082.2	-	27	5655	c.5656delG	c.(5656-5658)gctfs	p.A1887fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1887					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGTGATGCAGCCTCCTCCTCA	0.498																																																0													144	131	135					3																	38739055		2203	4300	6503	SO:0001589	frameshift_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5656delG	chr3.hg19:g.38739055delC	ENSP00000390600:p.Ala1887fs		A6NDQ1	Frame_Shift_Del	DEL	ENST00000449082.2	hg19	CCDS33736.1																																																																																				0.498	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		-	38739055	C	-	38739055	7	5	5	1	0	1	0	1	0	0	0	0	13918	739	26	0	218	0	SCN10A	3	38739055	Frame_Shift_Del	DEL	C	TCGA-2Z-A9J5-01A-21D-A382-10		38739055	159283375	18	414											
PLXNB1	5364	hgsc.bcm.edu	37	3	48464321	48464321	+	Silent	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr3:48464321G>A	ENST00000358536.4	-	4	1412	c.1143C>T	c.(1141-1143)caC>caT	p.H381H	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Silent_p.H381H|PLXNB1_ENST00000456774.1_Silent_p.H381H|PLXNB1_ENST00000296440.6_Silent_p.H381H	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	381	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCTGGGCGTGTGGTCTGAGC	0.607																																																0													52	51	51					3																	48464321		2203	4300	6503	SO:0001819	synonymous_variant	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1143C>T	chr3.hg19:g.48464321G>A			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	hg19	CCDS2765.1																																																																																				0.607	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		A	48464321	G	A	48464321	2	1	5	1	0	0	0	0	0	0	0	1	12125	1368	48	2		2	PLXNB1	3	48464321	Silent	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	9725266	48464321	149558109	19	415											
DOCK3	1795	hgsc.bcm.edu	37	3	51350329	51350329	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr3:51350329delT	ENST00000266037.9	+	31	3272	c.3249delT	c.(3247-3249)aatfs	p.N1083fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1083					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGTGGCAGAATTTGGGTAGGT	0.408																																																0													296	274	281					3																	51350329		1904	4122	6026	SO:0001589	frameshift_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3249delT	chr3.hg19:g.51350329delT	ENSP00000266037:p.Asn1083fs		O15017	Frame_Shift_Del	DEL	ENST00000266037.9	hg19	CCDS46835.1																																																																																				0.408	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		-	51350329	T	-	51350329	7	5	5	1	0	1	0	1	0	0	0	0	4690	1490	52	0	3371	0	DOCK3	3	51350329	Frame_Shift_Del	DEL	T	TCGA-2Z-A9J5-01A-21D-A382-10	2886008	51350329	146672101	20	416											
ROBO2	6092	hgsc.bcm.edu	37	3	77617480	77617480	+	Silent	SNP	A	A	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr3:77617480A>T	ENST00000461745.1	+	13	2766	c.1866A>T	c.(1864-1866)gcA>gcT	p.A622A	ROBO2_ENST00000332191.8_Silent_p.A622A|ROBO2_ENST00000487694.3_Silent_p.A638A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	622					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCCCACCAGCACAAGGAGTGG	0.418																																																0													108	106	106					3																	77617480		2035	4193	6228	SO:0001819	synonymous_variant	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1866A>T	chr3.hg19:g.77617480A>T			O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	hg19	CCDS43109.1																																																																																				0.418	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77617480	A	T	77617480	2	4	5	1	0	0	0	0	0	0	0	1	13520	146	6	5		5	ROBO2	3	77617480	Silent	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10	26267151	77617480	120404950	21	417											
CHMP2B	25978	hgsc.bcm.edu	37	3	87299049	87299049	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr3:87299049A>G	ENST00000263780.4	+	4	584	c.346A>G	c.(346-348)Atg>Gtg	p.M116V	CHMP2B_ENST00000471660.1_Missense_Mutation_p.M75V|CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000494980.1_Missense_Mutation_p.M86V	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	116					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TAACAAGAAGATGGATCCACA	0.284																																																0													71	71	71					3																	87299049		2203	4295	6498	SO:0001583	missense	25978			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"Charged multivesicular body proteins"	24537	protein-coding gene	gene with protein product	"VPS2 homolog B (S. cerevisiae)"	609512	"chromatin modifying protein 2B"			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.346A>G	chr3.hg19:g.87299049A>G	ENSP00000263780:p.Met116Val		B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	hg19	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813168	0.50527	.	.	ENSG00000083937	ENST00000471660;ENST00000263780;ENST00000494980	T;T;T	0.72282	-0.64;-0.64;-0.64	5.95	3.58	0.41010	.	0.068172	0.85682	N	0.000000	T	0.63943	0.2554	M	0.64170	1.965	0.80722	D	1	P;B	0.37573	0.6;0.0	B;B	0.35931	0.214;0.001	T	0.57230	-0.7847	10	0.26408	T	0.33	-13.8833	10.4077	0.44274	0.8709:0.0:0.1291:0.0	.	75;116	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	V	75;116;86	ENSP00000419998:M75V;ENSP00000263780:M116V;ENSP00000418920:M86V	ENSP00000263780:M116V	M	+	1	0	CHMP2B	87381739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.727000	0.68523	0.505000	0.28104	0.460000	0.39030	ATG		0.284	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		G	87299049	A	G	87299049	3	3	5	1	0	0	0	0	1	0	0	0	3357	333	12	3	360	3	CHMP2B	3	87299049	Missense_Mutation	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10	9681569	87299049	110723381	22	418											
EPHA3	2042	hgsc.bcm.edu	37	3	89259542	89259542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr3:89259542delC	ENST00000336596.2	+	3	911	c.686delC	c.(685-687)tctfs	p.S229fs	EPHA3_ENST00000452448.2_Frame_Shift_Del_p.S229fs|EPHA3_ENST00000494014.1_Frame_Shift_Del_p.S229fs	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	229	Cys-rich.		S -> Y (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.S229Y(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTAGAGGGTCTTGTGTCAAC	0.483										TSP Lung(6;0.00050)																																						1	Substitution - Missense(1)	lung(1)											156	150	152					3																	89259542		2203	4300	6503	SO:0001589	frameshift_variant	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.686delC	chr3.hg19:g.89259542delC	ENSP00000337451:p.Ser229fs		Q9H2V3|Q9H2V4	Frame_Shift_Del	DEL	ENST00000336596.2	hg19	CCDS2922.1																																																																																				0.483	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		-	89259542	C	-	89259542	7	5	5	1	0	1	0	1	0	0	0	0	5170	913	32	0	696	0	EPHA3	3	89259542	Frame_Shift_Del	DEL	C	TCGA-2Z-A9J5-01A-21D-A382-10	1960493	89259542	108762888	23	419											
SEMA5B	54437	hgsc.bcm.edu	37	3	122647427	122647427	+	Silent	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr3:122647427G>A	ENST00000357599.3	-	7	959	c.573C>T	c.(571-573)gtC>gtT	p.V191V	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000451055.2_Silent_p.V245V|SEMA5B_ENST00000195173.4_Silent_p.V191V	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	191	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCCGGCCGGCGACGATCAGGA	0.592																																																0													65	49	54					3																	122647427		2199	4288	6487	SO:0001819	synonymous_variant	54437			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.573C>T	chr3.hg19:g.122647427G>A			A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	hg19	CCDS35491.1																																																																																				0.592	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		A	122647427	G	A	122647427	2	1	5	1	0	0	0	0	0	0	0	1	14044	1045	37	1		1	SEMA5B	3	122647427	Silent	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	33387885	122647427	75375003	24	420											
SLC7A14	57709	hgsc.bcm.edu	37	3	170244552	170244552	+	Silent	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr3:170244552G>A	ENST00000231706.5	-	2	489	c.174C>T	c.(172-174)ctC>ctT	p.L58L	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	58					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAAGAGAGATGAGGTCCACTG	0.567																																																0													260	195	217					3																	170244552		2203	4300	6503	SO:0001819	synonymous_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.174C>T	chr3.hg19:g.170244552G>A			B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	hg19	CCDS33892.1																																																																																				0.567	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		A	170244552	G	A	170244552	2	1	5	1	0	0	0	0	0	0	0	1	14702	1277	45	2		2	SLC7A14	3	170244552	Silent	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	47597125	170244552	27777878	25	421											
CC2D2A	57545	hgsc.bcm.edu	37	4	15482437	15482437	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr4:15482437G>A	ENST00000503292.1	+	5	413	c.233G>A	c.(232-234)cGg>cAg	p.R78Q	CC2D2A_ENST00000515124.1_Missense_Mutation_p.R78Q|CC2D2A_ENST00000438599.2_Silent_p.P113P|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R78Q|CC2D2A_ENST00000424120.1_Missense_Mutation_p.R78Q|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R29Q|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000511544.1_Silent_p.P113P|CC2D2A_ENST00000507954.1_Missense_Mutation_p.R78Q|CC2D2A_ENST00000503658.1_Silent_p.P113P	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	78					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ATGACAGTCCGGAGAGGCCCA	0.552																																																0													31	32	32					4																	15482437		1898	4119	6017	SO:0001583	missense	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.233G>A	chr4.hg19:g.15482437G>A	ENSP00000421809:p.Arg78Gln		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	hg19	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934877	0.34189	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000507954;ENST00000515124;ENST00000503292;ENST00000389652	T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71	4.96	2.33	0.28932	.	0.862507	0.09564	N	0.785128	T	0.21962	0.0529	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.31125	0.048;0.048;0.09;0.309	B;B;B;B	0.23852	0.008;0.008;0.021;0.049	T	0.18524	-1.0334	10	0.36615	T	0.2	.	6.9029	0.24293	0.2849:0.0:0.7151:0.0	.	78;29;78;78	Q9P2K1;Q9P2K1-2;C9JKY6;D6RB72	C2D2A_HUMAN;.;.;.	Q	78;78;29;29;78;78;78;78;29	ENSP00000403465:R78Q;ENSP00000398391:R78Q;ENSP00000422875:R78Q;ENSP00000427221:R78Q;ENSP00000424368:R78Q;ENSP00000421809:R78Q;ENSP00000374303:R29Q	ENSP00000374303:R29Q	R	+	2	0	CC2D2A	15091535	0.123000	0.22298	0.014000	0.15608	0.115000	0.19883	1.888000	0.39708	0.291000	0.22468	-0.241000	0.12123	CGG		0.552	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		A	15482437	G	A	15482437	3	1	5	1	0	0	0	0	1	0	0	0	2730	1116	39	1	353	1	CC2D2A	4	15482437	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10		15482437	175671839	26	422											
FAM105B	90268	hgsc.bcm.edu	37	5	14687708	14687708	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr5:14687708G>A	ENST00000284274.4	+	5	625	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		183	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GAAGAATGAGGACCTGGTTGA	0.403																																																0													142	146	144					5																	14687708		1838	4091	5929	SO:0001583	missense	90268																														ENST00000284274.4:c.547G>A	chr5.hg19:g.14687708G>A	ENSP00000284274:p.Asp183Asn		D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	hg19	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638791	0.47153	.	.	ENSG00000154124	ENST00000284274	T	0.18657	2.2	6.17	4.42	0.53409	.	0.137100	0.64402	N	0.000005	T	0.11879	0.0289	N	0.14661	0.345	0.33190	D	0.550715	B	0.06786	0.001	B	0.10450	0.005	T	0.17501	-1.0367	10	0.18276	T	0.48	-18.6943	10.8094	0.46538	0.1439:0.0:0.8561:0.0	.	183	Q96BN8	F105B_HUMAN	N	183	ENSP00000284274:D183N	ENSP00000284274:D183N	D	+	1	0	FAM105B	14740708	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.288000	0.43514	0.960000	0.38005	0.655000	0.94253	GAC		0.403	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			A	14687708	G	A	14687708	3	1	5	1	0	0	0	0	1	0	0	0	5390	1174	41	2	565	2	FAM105B	5	14687708	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10		14687708	166227552	27	423											
C5orf42	65250	hgsc.bcm.edu	37	5	37184927	37184927	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr5:37184927A>G	ENST00000508244.1	-	24	4537	c.4444T>C	c.(4444-4446)Tcg>Ccg	p.S1482P	C5orf42_ENST00000274258.7_Missense_Mutation_p.S363P|C5orf42_ENST00000425232.2_Missense_Mutation_p.S1482P			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1482						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCTTCAACCGACAAAGCTTCA	0.393																																																0													128	120	123					5																	37184927		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4444T>C	chr5.hg19:g.37184927A>G	ENSP00000421690:p.Ser1482Pro		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343649	0.61073	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.86	0.619	0.17630	.	0.554792	0.15252	N	0.272275	T	0.44519	0.1297	N	0.19112	0.55	0.18873	N	0.999988	B;B	0.14438	0.005;0.01	B;B	0.11329	0.004;0.006	T	0.26224	-1.0109	10	0.41790	T	0.15	.	4.2899	0.10872	0.517:0.0:0.2653:0.2177	.	1482;363	E9PH94;Q9H799	.;CE042_HUMAN	P	1482;1482;363;530;363	ENSP00000421690:S1482P;ENSP00000389014:S1482P;ENSP00000274258:S363P;ENSP00000424223:S530P	ENSP00000274258:S363P	S	-	1	0	C5orf42	37220684	0.001000	0.12720	0.113000	0.21522	0.112000	0.19704	0.064000	0.14437	0.509000	0.28195	0.482000	0.46254	TCG		0.393	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		G	37184927	A	G	37184927	3	3	5	1	0	0	0	0	1	0	0	0	2303	275	10	3	5261	3	C5orf42	5	37184927	Missense_Mutation	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10	22497219	37184927	143730333	28	424											
APC	324	hgsc.bcm.edu	37	5	112174167	112174167	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr5:112174167C>A	ENST00000457016.1	+	16	3256	c.2876C>A	c.(2875-2877)tCt>tAt	p.S959Y	APC_ENST00000508376.2_Missense_Mutation_p.S959Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S959Y			P25054	APC_HUMAN	adenomatous polyposis coli	959	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TACAAGAGATCTTCAAATGAT	0.343		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)											69	69	69					5																	112174167		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2876C>A	chr5.hg19:g.112174167C>A	ENSP00000413133:p.Ser959Tyr		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	hg19	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808071	0.50421	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93763	-2.55;-3.28;-2.55;-2.55;-2.73	5.9	5.9	0.94986	.	0.049171	0.85682	D	0.000000	D	0.85762	0.5772	N	0.08118	0	0.52099	D	0.999941	P;P	0.44877	0.845;0.845	B;B	0.34536	0.185;0.185	D	0.87864	0.2666	10	0.59425	D	0.04	-14.3819	20.2787	0.98501	0.0:1.0:0.0:0.0	.	961;959	Q4LE70;P25054	.;APC_HUMAN	Y	959;941;959;959;959	ENSP00000413133:S959Y;ENSP00000423224:S941Y;ENSP00000257430:S959Y;ENSP00000427089:S959Y;ENSP00000423828:S959Y	ENSP00000257430:S959Y	S	+	2	0	APC	112202066	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.668000	0.61568	2.798000	0.96311	0.650000	0.86243	TCT		0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		A	112174167	C	A	112174167	3	1	5	1	0	0	0	0	1	0	0	0	763	913	32	4	2934	4	APC	5	112174167	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	74989240	112174167	68741093	29	425											
PCDHAC1	56135	hgsc.bcm.edu	37	5	140306623	140306623	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr5:140306623C>A	ENST00000253807.2	+	1	146	c.146C>A	c.(145-147)gCt>gAt	p.A49D	PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A49D|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCGGCCGCTATGTCCTCG	0.652																																																0													52	62	58					5																	140306623		2203	4300	6503	SO:0001583	missense	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.146C>A	chr5.hg19:g.140306623C>A	ENSP00000253807:p.Ala49Asp		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	hg19	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	6.060	0.379337	0.11466	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.26810	1.71;1.71	5.29	1.17	0.20885	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.11196	0.0273	N	0.05124	-0.11	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.16289	0.006;0.015	T	0.28964	-1.0027	9	0.36615	T	0.2	.	5.5223	0.16939	0.0:0.4802:0.231:0.2888	.	49;49	Q9H158;Q9H158-2	PCDC1_HUMAN;.	D	49	ENSP00000386356:A49D;ENSP00000253807:A49D	ENSP00000253807:A49D	A	+	2	0	PCDHAC1	140286807	0.000000	0.05858	0.008000	0.14137	0.148000	0.21650	-0.208000	0.09371	0.196000	0.20367	0.561000	0.74099	GCT		0.652	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		A	140306623	C	A	140306623	3	1	5	1	0	0	0	0	1	0	0	0	11534	797	28	4	148	4	PCDHAC1	5	140306623	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	28132456	140306623	40608637	30	426											
BAI3	577	hgsc.bcm.edu	37	6	69646517	69646517	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr6:69646517C>G	ENST00000370598.1	+	5	1796	c.975C>G	c.(973-975)caC>caG	p.H325Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	325	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACGGGACACACTGCAGCGGCC	0.498																																																0													123	95	105					6																	69646517		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.975C>G	chr6.hg19:g.69646517C>G	ENSP00000359630:p.His325Gln		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	hg19	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841299	0.51057	.	.	ENSG00000135298	ENST00000370598	T	0.49720	0.77	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	N	0.04018	-0.295	0.80722	D	1	P	0.51933	0.949	P	0.46208	0.507	T	0.08638	-1.0712	10	0.10377	T	0.69	.	19.2236	0.93808	0.0:1.0:0.0:0.0	.	325	O60242	BAI3_HUMAN	Q	325	ENSP00000359630:H325Q	ENSP00000359630:H325Q	H	+	3	2	BAI3	69703238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.807000	0.86032	2.545000	0.85829	0.585000	0.79938	CAC		0.498	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			G	69646517	C	G	69646517	3	3	5	1	0	0	0	0	1	0	0	0	1300	564	20	4	985	4	BAI3	6	69646517	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10		69646517	101468550	31	427											
C6orf182	285753	hgsc.bcm.edu	37	6	109480588	109480588	+	Silent	SNP	A	A	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr6:109480588A>T	ENST00000517392.1	+	9	1365	c.939A>T	c.(937-939)tcA>tcT	p.S313S	CEP57L1_ENST00000520883.1_Silent_p.S213S|CEP57L1_ENST00000336977.4_Silent_p.S213S|CEP57L1_ENST00000407272.1_Silent_p.S313S|CEP57L1_ENST00000359793.3_Silent_p.S313S|CEP57L1_ENST00000523787.1_Silent_p.S316S|CEP57L1_ENST00000368968.2_Silent_p.S313S|CEP57L1_ENST00000521522.1_Silent_p.S260S|CEP57L1_ENST00000368970.2_Silent_p.S330S	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	313					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						CTCCTGACTCAGAAAAGTCCA	0.383																																																0													82	84	83					6																	109480588		2203	4300	6503	SO:0001819	synonymous_variant	285753			AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 182"	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.939A>T	chr6.hg19:g.109480588A>T			G5E992	Silent	SNP	ENST00000517392.1	hg19	CCDS5071.1																																																																																				0.383	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		T	109480588	A	T	109480588	2	4	5	1	0	0	0	0	0	0	0	1	2348	175	7	5		5	C6orf182	6	109480588	Silent	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10	39834071	109480588	61634479	32	428											
CTAGE9	643854	hgsc.bcm.edu	37	6	132030533	132030533	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr6:132030533delA	ENST00000314099.8	-	1	1673	c.1625delT	c.(1624-1626)ttgfs	p.L543fs	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	543						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						ATCCTCCAACAAAGTTTGAGG	0.522																																																0													1	1	1					6																	132030533		17	57	74	SO:0001589	frameshift_variant	643854				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.1625delT	chr6.hg19:g.132030533delA	ENSP00000395587:p.Leu543fs			Frame_Shift_Del	DEL	ENST00000314099.8	hg19	CCDS47475.1																																																																																				0.522	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		-	132030533	A	-	132030533	7	5	5	1	0	1	0	1	0	0	0	0	3998	131	5	0	712	0	CTAGE9	6	132030533	Frame_Shift_Del	DEL	A	TCGA-2Z-A9J5-01A-21D-A382-10	22549945	132030533	39084534	33	429											
CARD11	84433	hgsc.bcm.edu	37	7	2976750	2976750	+	Missense_Mutation	SNP	A	A	T	rs372864426	byFrequency	TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr7:2976750A>T	ENST00000396946.4	-	9	1665	c.1262T>A	c.(1261-1263)aTg>aAg	p.M421K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	421					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCGCCGCACCATCTCGATCCT	0.597			Mis		DLBCL																																		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													159	128	139					7																	2976750		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1262T>A	chr7.hg19:g.2976750A>T	ENSP00000380150:p.Met421Lys		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	hg19	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047193	0.55110	.	.	ENSG00000198286	ENST00000396946	T	0.35236	1.32	5.22	5.22	0.72569	.	0.182330	0.56097	D	0.000021	T	0.27594	0.0678	N	0.22421	0.69	0.45390	D	0.998376	B	0.26363	0.147	B	0.25759	0.063	T	0.08126	-1.0737	10	0.59425	D	0.04	-37.5613	14.2746	0.66173	1.0:0.0:0.0:0.0	.	421	Q9BXL7	CAR11_HUMAN	K	421	ENSP00000380150:M421K	ENSP00000380150:M421K	M	-	2	0	CARD11	2943276	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.387000	0.52501	1.981000	0.57761	0.459000	0.35465	ATG		0.597	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		T	2976750	A	T	2976750	3	4	5	1	0	0	0	0	1	0	0	0	2647	217	8	5	2270	5	CARD11	7	2976750	Missense_Mutation	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10		2976750	156161913	34	430											
CLIP2	7461	hgsc.bcm.edu	37	7	73790571	73790571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr7:73790571delA	ENST00000395060.1	+	9	1840	c.1840delA	c.(1840-1842)aaafs	p.K614fs	CLIP2_ENST00000223398.6_Frame_Shift_Del_p.K614fs|CLIP2_ENST00000361545.5_Frame_Shift_Del_p.K579fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	614						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGACAACTGGAAATCCAAGCT	0.632																																																0													63	56	58					7																	73790571		2203	4300	6503	SO:0001589	frameshift_variant	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1840delA	chr7.hg19:g.73790571delA	ENSP00000378500:p.Lys614fs		O14527|O43611	Frame_Shift_Del	DEL	ENST00000395060.1	hg19	CCDS5569.1																																																																																				0.632	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		-	73790571	A	-	73790571	7	5	5	1	0	1	0	1	0	0	0	0	3535	247	9	0	1874	0	CLIP2	7	73790571	Frame_Shift_Del	DEL	A	TCGA-2Z-A9J5-01A-21D-A382-10	70813821	73790571	85348092	35	431											
ADAM22	53616	hgsc.bcm.edu	37	7	87785232	87785232	+	Silent	SNP	C	C	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr7:87785232C>T	ENST00000265727.7	+	22	1897	c.1818C>T	c.(1816-1818)acC>acT	p.T606T	ADAM22_ENST00000398209.3_Silent_p.T606T|ADAM22_ENST00000398204.4_Silent_p.T606T|ADAM22_ENST00000398201.4_Silent_p.T606T|ADAM22_ENST00000315984.7_Silent_p.T606T			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	606	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTGTGTACCAATATTGGCA	0.358																																																0													227	211	216					7																	87785232		1870	4106	5976	SO:0001819	synonymous_variant	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1818C>T	chr7.hg19:g.87785232C>T			O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	hg19	CCDS47637.1																																																																																				0.358	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		T	87785232	C	T	87785232	2	4	5	1	0	0	0	0	0	0	0	1	244	581	21	2		2	ADAM22	7	87785232	Silent	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	13994661	87785232	71353431	36	432											
PSMC2	5701	hgsc.bcm.edu	37	7	103008257	103008257	+	Splice_Site	SNP	G	G	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr7:103008257G>T	ENST00000435765.1	+	12	1555		c.e12+1		SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Splice_Site|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Splice_Site	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2						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)|ATP catabolic process (GO:0006200)|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)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATAGCACTGGTAAGTAGAAA	0.393																																																0													108	111	110					7																	103008257		2203	4300	6503	SO:0001630	splice_region_variant	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1144+1G>T	chr7.hg19:g.103008257G>T			A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Splice_Site	SNP	ENST00000435765.1	hg19	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553104	0.86127	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5674	0.91121	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMC2	102795493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.483000	0.97937	2.367000	0.80283	0.644000	0.83932	.		0.393	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803	Intron	T	103008257	G	T	103008257	5	4	5	1	0	0	0	0	0	0	1	0	12691	1275	44	4	1187	4	PSMC2	7	103008257	Splice_Site	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	15223025	103008257	56130406	37	433											
TNPO3	23534	hgsc.bcm.edu	37	7	128632137	128632137	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr7:128632137G>C	ENST00000265388.5	-	10	1417	c.1274C>G	c.(1273-1275)tCt>tGt	p.S425C	TNPO3_ENST00000393245.1_Missense_Mutation_p.S425C|TNPO3_ENST00000482320.1_Missense_Mutation_p.S359C|TNPO3_ENST00000471234.1_Missense_Mutation_p.S425C|TNPO3_ENST00000471166.1_Missense_Mutation_p.S425C			Q9Y5L0	TNPO3_HUMAN	transportin 3	425					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTTCAGAGTAGAATATAACTA	0.398																																					Pancreas(147;583 2585 39696 52331)											0													97	101	100					7																	128632137		2203	4300	6503	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.1274C>G	chr7.hg19:g.128632137G>C	ENSP00000265388:p.Ser425Cys		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	hg19	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854304	0.71719	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.159224	0.56097	D	0.000021	T	0.59609	0.2206	N	0.19112	0.55	0.58432	D	0.999998	P;P;P	0.51933	0.949;0.943;0.911	B;B;P	0.46685	0.405;0.405;0.524	T	0.64499	-0.6393	10	0.56958	D	0.05	.	17.2251	0.86967	0.0:0.0:1.0:0.0	.	425;425;425	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	C	425;425;359;425;425	ENSP00000376936:S425C;ENSP00000265388:S425C;ENSP00000420089:S359C;ENSP00000418646:S425C;ENSP00000418267:S425C	ENSP00000265388:S425C	S	-	2	0	TNPO3	128419373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.358000	0.97109	2.732000	0.93576	0.557000	0.71058	TCT		0.398	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		C	128632137	G	C	128632137	3	2	5	1	0	0	0	0	1	0	0	0	16342	942	33	4	1549	4	TNPO3	7	128632137	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	25623880	128632137	30506526	38	434											
PLXNA4	91584	hgsc.bcm.edu	37	7	131815331	131815331	+	Silent	SNP	G	G	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr7:131815331G>T	ENST00000359827.3	-	32	6554	c.5592C>A	c.(5590-5592)atC>atA	p.I1864I	PLXNA4_ENST00000321063.4_Silent_p.I1864I			Q9HCM2	PLXA4_HUMAN	plexin A4	1864					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGGTCCAAGGATCTGCGGAA	0.512																																																0													143	142	142					7																	131815331		2021	4169	6190	SO:0001819	synonymous_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5592C>A	chr7.hg19:g.131815331G>T			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	hg19	CCDS43646.1																																																																																				0.512	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131815331	G	T	131815331	2	4	5	1	0	0	0	0	0	0	0	1	12124	1164	41	4		4	PLXNA4	7	131815331	Silent	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	3183194	131815331	27323332	39	435											
CNOT4	4850	hgsc.bcm.edu	37	7	135078775	135078775	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr7:135078775T>C	ENST00000315544.5	-	10	1801	c.1522A>G	c.(1522-1524)Atc>Gtc	p.I508V	CNOT4_ENST00000428680.2_Missense_Mutation_p.I505V|CNOT4_ENST00000451834.1_Missense_Mutation_p.I505V|CNOT4_ENST00000541284.1_Missense_Mutation_p.I508V|CNOT4_ENST00000423368.2_Missense_Mutation_p.I508V|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.I505V	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	508					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AAGTGCATGATGCTATTGCGT	0.507																																					Ovarian(51;766 1130 5502 35047 50875)											0													64	70	68					7																	135078775		1977	4179	6156	SO:0001583	missense	4850			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1522A>G	chr7.hg19:g.135078775T>C	ENSP00000326731:p.Ile508Val		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	hg19	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192948	0.38707	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.96	3.49	0.39957	.	0.196794	0.53938	N	0.000045	T	0.25044	0.0608	N	0.19112	0.55	0.42892	D	0.994204	B;B;B;B;B;B	0.20671	0.028;0.047;0.003;0.006;0.047;0.047	B;B;B;B;B;B	0.21917	0.016;0.025;0.005;0.01;0.037;0.037	T	0.05852	-1.0860	10	0.26408	T	0.33	-7.2682	7.7871	0.29097	0.0:0.0716:0.1392:0.7891	.	505;508;508;505;508;505	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	V	508;505;508;508;505;505;508	ENSP00000445508:I508V;ENSP00000388491:I505V;ENSP00000406777:I508V;ENSP00000354673:I505V;ENSP00000399108:I505V;ENSP00000326731:I508V	ENSP00000262563:I508V	I	-	1	0	CNOT4	134729315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.181000	0.42547	1.092000	0.41356	0.533000	0.62120	ATC		0.507	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		C	135078775	T	C	135078775	3	2	5	1	0	0	0	0	1	0	0	0	3623	1464	51	3	519	3	CNOT4	7	135078775	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	3263444	135078775	24059888	40	436											
ABCF2	10061	hgsc.bcm.edu	37	7	150915213	150915213	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr7:150915213G>C	ENST00000287844.2	-	11	1401	c.1292C>G	c.(1291-1293)cCc>cGc	p.P431R	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.P431R	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	431	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTCCATTGGGCCCTACCAG	0.507																																																0													143	121	128					7																	150915213		2203	4300	6503	SO:0001583	missense	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1292C>G	chr7.hg19:g.150915213G>C	ENSP00000287844:p.Pro431Arg		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	hg19	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113188	0.94339	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	D;D	0.94537	-3.45;-3.45	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	L	0.45581	1.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.96634	0.9469	10	0.87932	D	0	-34.616	18.3531	0.90345	0.0:0.0:1.0:0.0	.	431;431	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	R	431	ENSP00000222388:P431R;ENSP00000287844:P431R	ENSP00000222388:P431R	P	-	2	0	ABCF2	150546146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	2.571000	0.86741	0.591000	0.81541	CCC		0.507	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		C	150915213	G	C	150915213	3	2	5	1	0	0	0	0	1	0	0	0	66	1232	43	4	640	4	ABCF2	7	150915213	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	15836438	150915213	8223450	41	437											
C8orf41	80185	hgsc.bcm.edu	37	8	33361326	33361326	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr8:33361326G>C	ENST00000431156.2	-	5	1673	c.1055C>G	c.(1054-1056)cCa>cGa	p.P352R	TTI2_ENST00000520636.1_Missense_Mutation_p.P321R|TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.P352R	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	352																	GCGGTGCTCTGGCTCCATGTG	0.522																																																0													62	53	56					8																	33361326		2203	4300	6503	SO:0001583	missense	80185			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"chromosome 8 open reading frame 41", "Tel2 interacting protein 2 homolog (S. pombe)"	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1055C>G	chr8.hg19:g.33361326G>C	ENSP00000411169:p.Pro352Arg		D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	hg19	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006383	0.54361	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	T;T;T	0.77229	-1.08;-1.08;-1.08	5.5	5.5	0.81552	.	0.137293	0.49916	D	0.000134	T	0.79452	0.4448	M	0.63428	1.95	0.80722	D	1	P;P	0.45634	0.863;0.863	P;P	0.49637	0.617;0.617	T	0.75277	-0.3374	10	0.25106	T	0.35	-6.1452	12.4975	0.55937	0.0763:0.0:0.9237:0.0	.	352;321	Q6NXR4;E5RIH5	TTI2_HUMAN;.	R	352;352;352;321	ENSP00000353971:P352R;ENSP00000411169:P352R;ENSP00000428401:P321R	ENSP00000353971:P352R	P	-	2	0	C8orf41	33480868	0.981000	0.34729	1.000000	0.80357	0.990000	0.78478	4.372000	0.59530	2.850000	0.98022	0.650000	0.86243	CCA		0.522	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		C	33361326	G	C	33361326	3	2	5	1	0	0	0	0	1	0	0	0	2429	1348	47	4	487	4	C8orf41	8	33361326	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10		33361326	113002696	42	438											
RNF19A	25897	hgsc.bcm.edu	37	8	101273971	101273971	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr8:101273971A>G	ENST00000519449.1	-	9	1797	c.1481T>C	c.(1480-1482)gTa>gCa	p.V494A	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Missense_Mutation_p.V494A	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	494					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGCTTCTGCTACTGATGTTGT	0.423																																																0													174	143	153					8																	101273971		2203	4300	6503	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1481T>C	chr8.hg19:g.101273971A>G	ENSP00000428968:p.Val494Ala		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	hg19	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598075	0.66332	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.85955	-2.05;-2.05	5.34	5.34	0.76211	.	0.116360	0.64402	D	0.000017	T	0.78761	0.4334	L	0.51422	1.61	0.80722	D	1	P	0.40083	0.702	B	0.36092	0.217	T	0.76971	-0.2761	10	0.07175	T	0.84	.	14.9917	0.71393	1.0:0.0:0.0:0.0	.	494	Q9NV58	RN19A_HUMAN	A	494	ENSP00000428968:V494A;ENSP00000342667:V494A	ENSP00000342667:V494A	V	-	2	0	RNF19A	101343147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.033000	0.60031	0.482000	0.46254	GTA		0.423	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		G	101273971	A	G	101273971	3	3	5	1	0	0	0	0	1	0	0	0	13476	391	14	3	1047	3	RNF19A	8	101273971	Missense_Mutation	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10	67912645	101273971	45090051	43	439											
COL22A1	169044	hgsc.bcm.edu	37	8	139809070	139809071	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr8:139809070_139809071CC>TA	ENST00000303045.6	-	12	2033_2034	c.1587_1588GG>TA	c.(1585-1590)aaGGgt>aaTAgt	p.529_530KG>NS	COL22A1_ENST00000435777.1_Missense_Mutation_p.529_530KG>NS	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTTTTCACCCTTTTCCCCTT	0.46										HNSCC(7;0.00092)																																						0																																										SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1587_1588delinsTA	chr8.hg19:g.139809070_139809071delinsTA	ENSP00000303153:p.K529_G530delinsNS		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	hg19	CCDS6376.1																																																																																				0.46	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		TA	139809071	CC	TA	139809070	3	4	5	1	0	0	0	0	1	0	0	0	3683	623	22	2	3508	2	COL22A1	8	139809070	Missense_Mutation	DNP	CC	TCGA-2Z-A9J5-01A-21D-A382-10	38535099	139809070	6554952	44	440											
ASTN2	23245	hgsc.bcm.edu	37	9	119976776	119976776	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr9:119976776G>T	ENST00000313400.4	-	3	976	c.876C>A	c.(874-876)gaC>gaA	p.D292E	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.D292E|ASTN2_ENST00000361209.2_Missense_Mutation_p.D292E			O75129	ASTN2_HUMAN	astrotactin 2	292					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACAGTCATAGTCATCCAGGA	0.622																																																0													79	76	77					9																	119976776		2203	4300	6503	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.876C>A	chr9.hg19:g.119976776G>T	ENSP00000314038:p.Asp292Glu		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	hg19		.	.	.	.	.	.	.	.	.	.	G	14.86	2.662602	0.47572	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.13538	2.69;2.68;2.63;2.58	5.16	4.26	0.50523	.	0.073163	0.52532	D	0.000066	T	0.16854	0.0405	N	0.08118	0	0.40900	D	0.984144	D;D;D	0.67145	0.99;0.994;0.996	P;D;D	0.72625	0.789;0.978;0.94	T	0.22417	-1.0217	9	.	.	.	-25.8287	13.3233	0.60444	0.0775:0.0:0.9225:0.0	.	292;292;292	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	E	292;292;19;292	ENSP00000314038:D292E;ENSP00000363108:D292E;ENSP00000363098:D19E;ENSP00000354504:D292E	.	D	-	3	2	ASTN2	119016597	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.188000	0.58351	1.159000	0.42565	0.655000	0.94253	GAC		0.622	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		T	119976776	G	T	119976776	3	4	5	1	0	0	0	0	1	0	0	0	1065	1020	36	4	3302	4	ASTN2	9	119976776	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10		119976776	21236655	45	441											
SETX	23064	hgsc.bcm.edu	37	9	135204944	135204944	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr9:135204944C>T	ENST00000224140.5	-	10	2223	c.2041G>A	c.(2041-2043)Gac>Aac	p.D681N	SETX_ENST00000372169.2_Missense_Mutation_p.D681N|SETX_ENST00000393220.1_Missense_Mutation_p.D681N	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	681					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAGAGATGGTCCTCTAGTTTC	0.343																																																0													82	82	82					9																	135204944		2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2041G>A	chr9.hg19:g.135204944C>T	ENSP00000224140:p.Asp681Asn		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	hg19	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868576	0.51588	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87966	-2.24;-2.32;-1.94	5.37	5.37	0.77165	.	5.735300	0.00357	N	0.000020	D	0.89157	0.6635	L	0.32530	0.975	0.09310	N	1	P;P;P	0.51351	0.944;0.906;0.944	P;P;P	0.52957	0.714;0.521;0.714	T	0.78214	-0.2291	10	0.24483	T	0.36	.	15.85	0.78924	0.0:1.0:0.0:0.0	.	681;681;681	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	N	681	ENSP00000224140:D681N;ENSP00000361242:D681N;ENSP00000376913:D681N	ENSP00000224140:D681N	D	-	1	0	SETX	134194765	0.003000	0.15002	0.023000	0.16930	0.177000	0.22998	1.467000	0.35321	2.523000	0.85059	0.555000	0.69702	GAC		0.343	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		T	135204944	C	T	135204944	3	4	5	1	0	0	0	0	1	0	0	0	14147	855	30	2	6060	2	SETX	9	135204944	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	15228168	135204944	6008487	46	442											
CEL	1056	hgsc.bcm.edu	37	9	135946849	135946849	+	Missense_Mutation	SNP	T	T	G	rs587780308		TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr9:135946849T>G	ENST00000372080.4	+	11	1985	c.1969T>G	c.(1969-1971)Tcc>Gcc	p.S657A	CEL_ENST00000351304.7_Missense_Mutation_p.S588A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	654	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CACGGGTGACTCCGGGGCCCC	0.851																																																0													1	1	1					9																	135946849		65	235	300	SO:0001583	missense	1056			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1969T>G	chr9.hg19:g.135946849T>G	ENSP00000361151:p.Ser657Ala		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	hg19	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	t	9.616	1.132507	0.21041	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.70749	-0.33;-0.51	1.65	-3.25	0.05079	.	.	.	.	.	T	0.49150	0.1540	L	0.28115	0.83	0.09310	N	1	B	0.25007	0.116	B	0.19148	0.024	T	0.27971	-1.0058	9	0.48119	T	0.1	.	3.5479	0.07835	0.2212:0.4916:0.0:0.2872	.	654	P19835	CEL_HUMAN	A	657;588;623	ENSP00000361151:S657A;ENSP00000342217:S588A	ENSP00000304021:S623A	S	+	1	0	CEL	134936670	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.474000	0.06607	-0.858000	0.04110	0.352000	0.21897	TCC		0.851	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			G	135946849	T	G	135946849	3	3	5	1	0	0	0	0	1	0	0	0	3211	1551	54	5	2011	5	CEL	9	135946849	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	741905	135946849	5266582	47	443											
KIAA1984	84960	hgsc.bcm.edu	37	9	139700623	139700623	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr9:139700623G>A	ENST00000338005.6	+	10	1077	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000371671.4_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000371663.4_5'Flank|RABL6_ENST00000357466.2_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		348										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GCAGCTGAAGGCCCTGGTGAA	0.657																																																0													27	38	34					9																	139700623		2068	4195	6263	SO:0001583	missense	84960																														ENST00000338005.6:c.1042G>A	chr9.hg19:g.139700623G>A	ENSP00000338013:p.Ala348Thr		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	hg19	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598637	0.46318	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.14144	2.53	5.07	2.03	0.26663	.	0.168502	0.27366	U	0.019683	T	0.25044	0.0608	M	0.63843	1.955	0.21473	N	0.999672	D	0.76494	0.999	D	0.72075	0.976	T	0.09314	-1.0680	10	0.30078	T	0.28	-14.64	4.0722	0.09887	0.1981:0.0:0.6209:0.181	.	348	Q5T5S1	K1984_HUMAN	T	348	ENSP00000338013:A348T	ENSP00000338013:A348T	A	+	1	0	KIAA1984	138820444	0.407000	0.25352	0.029000	0.17559	0.440000	0.31957	0.595000	0.24029	0.107000	0.17824	0.561000	0.74099	GCC		0.657	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			A	139700623	G	A	139700623	3	1	5	1	0	0	0	0	1	0	0	0	8268	1203	42	2	1080	2	KIAA1984	9	139700623	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	3753774	139700623	1512808	48	444											
ATP5C1	509	hgsc.bcm.edu	37	10	7841871	7841871	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr10:7841871A>T	ENST00000356708.7	+	5	644	c.565A>T	c.(565-567)Aaa>Taa	p.K189*	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Nonsense_Mutation_p.K142*|ATP5C1_ENST00000335698.4_Nonsense_Mutation_p.K189*	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	189					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCTTTAATAAATTCAGGCA	0.318																																					Melanoma(143;1012 1820 16249 30920 33158)											0													45	48	47					10																	7841871		2200	4300	6500	SO:0001587	stop_gained	509			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.565A>T	chr10.hg19:g.7841871A>T	ENSP00000349142:p.Lys189*		A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Nonsense_Mutation	SNP	ENST00000356708.7	hg19	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.058482	0.76074	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.6	3.74	0.42951	.	0.116219	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0	13.9922	0.64374	0.4013:0.5987:0.0:0.0	.	.	.	.	X	189;189;142	.	ENSP00000338568:K189X	K	+	1	0	ATP5C1	7881877	1.000000	0.71417	0.883000	0.34634	0.442000	0.32017	1.528000	0.35985	0.827000	0.34685	-0.148000	0.13756	AAA		0.318	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		T	7841871	A	T	7841871	4	4	5	1	0	0	0	0	0	1	0	0	1149	363	13	5	583	5	ATP5C1	10	7841871	Nonsense_Mutation	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10		7841871	127692876	49	445											
CCDC7	79741	hgsc.bcm.edu	37	10	32760011	32760011	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr10:32760011T>A	ENST00000362006.5	+	7	1073	c.530T>A	c.(529-531)cTt>cAt	p.L177H	CCDC7_ENST00000537047.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.L177H|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000545067.1_Intron	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	177										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GATCAAACTCTTTTACAAGCA	0.294																																																0													33	35	34					10																	32760011		2200	4294	6494	SO:0001583	missense	221016			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.530T>A	chr10.hg19:g.32760011T>A	ENSP00000355078:p.Leu177His		Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	hg19	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808496	0.16467	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006	T;T	0.34072	1.38;1.38	5.06	-2.02	0.07388	.	.	.	.	.	T	0.20414	0.0491	N	0.14661	0.345	0.09310	N	0.999999	P	0.39157	0.662	B	0.42386	0.386	T	0.16748	-1.0392	9	0.49607	T	0.09	-20.8565	3.2857	0.06931	0.3191:0.2688:0.0:0.412	.	177	Q96M83	CCDC7_HUMAN	H	182;177;177	ENSP00000277657:L177H;ENSP00000355078:L177H	ENSP00000277657:L177H	L	+	2	0	CCDC7	32800017	0.021000	0.18746	0.000000	0.03702	0.073000	0.16967	0.379000	0.20585	-0.261000	0.09405	0.482000	0.46254	CTT		0.294	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		A	32760011	T	A	32760011	3	1	5	1	0	0	0	0	1	0	0	0	2844	1609	56	5	552	5	CCDC7	10	32760011	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	24918140	32760011	102774736	50	446											
ANKRD30A	91074	hgsc.bcm.edu	37	10	37508184	37508184	+	Silent	SNP	T	T	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr10:37508184T>C	ENST00000602533.1	+	34	3475	c.3376T>C	c.(3376-3378)Ttg>Ctg	p.L1126L	ANKRD30A_ENST00000361713.1_Silent_p.L1126L|ANKRD30A_ENST00000374660.1_Silent_p.L1245L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1182					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACTTCTAAATTGAAGGAAAA	0.383																																																0													91	91	91					10																	37508184		1852	4084	5936	SO:0001819	synonymous_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3376T>C	chr10.hg19:g.37508184T>C			Q5W025	Silent	SNP	ENST00000602533.1	hg19																																																																																					0.383	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		C	37508184	T	C	37508184	2	2	5	1	0	0	0	0	0	0	0	1	658	1490	52	3		3	ANKRD30A	10	37508184	Silent	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	4748173	37508184	98026563	51	447											
RHOBTB1	9886	hgsc.bcm.edu	37	10	62670721	62670721	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr10:62670721C>T	ENST00000337910.5	-	4	557	c.220G>A	c.(220-222)Gat>Aat	p.D74N	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D74N|RNU2-72P_ENST00000411175.1_RNA	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	74	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTCACTTCATCAACAACATCC	0.493																																																0													151	117	128					10																	62670721		2203	4300	6503	SO:0001583	missense	9886			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.220G>A	chr10.hg19:g.62670721C>T	ENSP00000338671:p.Asp74Asn			Missense_Mutation	SNP	ENST00000337910.5	hg19	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	36	5.770273	0.96914	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	T;T	0.24151	1.87;1.87	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.49234	-0.8961	10	0.62326	D	0.03	.	19.4554	0.94886	0.0:1.0:0.0:0.0	.	74	O94844	RHBT1_HUMAN	N	74	ENSP00000350595:D74N;ENSP00000338671:D74N	ENSP00000338671:D74N	D	-	1	0	RHOBTB1	62340727	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.724000	0.84798	2.591000	0.87537	0.555000	0.69702	GAT		0.493	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			T	62670721	C	T	62670721	3	4	5	1	0	0	0	0	1	0	0	0	13339	826	29	2	1902	2	RHOBTB1	10	62670721	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	25162537	62670721	72864026	52	448											
JMJD1C	221037	hgsc.bcm.edu	37	10	64968945	64968945	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr10:64968945A>T	ENST00000399262.2	-	9	2963	c.2745T>A	c.(2743-2745)gaT>gaA	p.D915E	JMJD1C_ENST00000399251.1_Missense_Mutation_p.D696E|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D733E|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D696E	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	915					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATCCAATACCATCTGCTGAGG	0.423																																																0													90	83	85					10																	64968945		1898	4113	6011	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2745T>A	chr10.hg19:g.64968945A>T	ENSP00000382204:p.Asp915Glu		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	hg19	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016377	0.75161	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	6.03	4.88	0.63580	.	0.096988	0.64402	N	0.000002	T	0.37999	0.1024	L	0.35723	1.085	0.39613	D	0.969902	B;B	0.27625	0.183;0.183	B;B	0.29942	0.109;0.109	T	0.40136	-0.9579	10	0.49607	T	0.09	-16.6076	1.8984	0.03262	0.5723:0.1677:0.0997:0.1604	.	915;733	Q15652;A0T124	JHD2C_HUMAN;.	E	915;696;696;733	ENSP00000382204:D915E;ENSP00000384990:D696E;ENSP00000382195:D696E;ENSP00000444682:D733E	ENSP00000382195:D696E	D	-	3	2	JMJD1C	64638951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.732000	0.38146	1.062000	0.40625	0.533000	0.62120	GAT		0.423	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		T	64968945	A	T	64968945	3	4	5	1	0	0	0	0	1	0	0	0	7952	214	8	5	4949	5	JMJD1C	10	64968945	Missense_Mutation	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10	2298224	64968945	70565802	53	449											
ZFYVE27	118813	hgsc.bcm.edu	37	10	99498260	99498260	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr10:99498260G>A	ENST00000393677.4	+	2	230	c.26G>A	c.(25-27)aGt>aAt	p.S9N	ZFYVE27_ENST00000337540.7_Missense_Mutation_p.S9N|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.S9N|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.S9N|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.S9N|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.S9N|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.S9N	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	9					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CGTGAGGGGAGTGGGCCGGAG	0.517																																																0													138	134	135					10																	99498260		2203	4300	6503	SO:0001583	missense	118813			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.26G>A	chr10.hg19:g.99498260G>A	ENSP00000377282:p.Ser9Asn		B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	hg19	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	G	8.596	0.885766	0.17540	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257	T;T;T;T;T	0.45668	0.89;1.46;1.45;1.46;1.46	5.04	2.0	0.26442	.	0.853122	0.10772	N	0.635877	T	0.25975	0.0633	N	0.19112	0.55	0.26977	N	0.965458	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.0;0.001;0.001;0.002;0.0	T	0.19778	-1.0295	10	0.48119	T	0.1	0.0993	5.8759	0.18828	0.2398:0.2259:0.5343:0.0	.	9;9;9;9;9;9	B7Z404;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;ZFY27_HUMAN	N	9	ENSP00000337993:S9N;ENSP00000377282:S9N;ENSP00000401580:S9N;ENSP00000353069:S9N;ENSP00000348593:S9N	ENSP00000337993:S9N	S	+	2	0	ZFYVE27	99488250	0.979000	0.34478	0.883000	0.34634	0.179000	0.23085	0.667000	0.25112	0.535000	0.28714	-0.258000	0.10820	AGT		0.517	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		A	99498260	G	A	99498260	3	1	5	1	0	0	0	0	1	0	0	0	17674	1029	36	2	28	2	ZFYVE27	10	99498260	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	34529315	99498260	36036487	54	450											
SEC23IP	11196	hgsc.bcm.edu	37	10	121663721	121663721	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr10:121663721T>A	ENST00000369075.3	+	4	1105	c.1033T>A	c.(1033-1035)Tgg>Agg	p.W345R	SEC23IP_ENST00000543134.1_Missense_Mutation_p.W134R	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	345	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACGCTGTACTTGGTTTTACAA	0.468																																																0													87	90	89					10																	121663721		2203	4300	6503	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1033T>A	chr10.hg19:g.121663721T>A	ENSP00000358071:p.Trp345Arg		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	hg19	CCDS7618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.683414|4.683414	0.88542|0.88542	.|.	.|.	ENSG00000107651|ENSG00000107651	ENST00000442952|ENST00000369075;ENST00000543134;ENST00000446561	.|D;D;T	.|0.91237	.|-2.81;-2.81;1.33	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96231	.|0.8771	M|M	0.91768|0.91768	3.24|3.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.996	.|D	.|0.97154	.|0.9833	.|10	.|0.87932	.|D	.|0	-7.97|-7.97	15.6047|15.6047	0.76658|0.76658	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|134;345	.|F5H0L8;Q9Y6Y8	.|.;S23IP_HUMAN	X|R	110|345;134;79	.|ENSP00000358071:W345R;ENSP00000438773:W134R;ENSP00000396906:W79R	.|ENSP00000358071:W345R	L|W	+|+	2|1	0|0	SEC23IP|SEC23IP	121653711|121653711	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.991000|0.991000	0.79684|0.79684	7.544000|7.544000	0.82117|0.82117	2.137000|2.137000	0.66172|0.66172	0.460000|0.460000	0.39030|0.39030	TTG|TGG		0.468	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			A	121663721	T	A	121663721	3	1	5	1	0	0	0	0	1	0	0	0	13999	1812	63	5	1047	5	SEC23IP	10	121663721	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	22165461	121663721	13871026	55	451											
ANO3	63982	hgsc.bcm.edu	37	11	26663544	26663544	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr11:26663544T>C	ENST00000256737.3	+	22	3095	c.2243T>C	c.(2242-2244)cTt>cCt	p.L748P	ANO3_ENST00000537978.1_Missense_Mutation_p.L732P|ANO3_ENST00000531568.1_Missense_Mutation_p.L602P|ANO3_ENST00000525139.1_Missense_Mutation_p.L732P	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	748					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CCCATGAACCTTCATGGACTG	0.408																																																0													119	110	113					11																	26663544		2203	4299	6502	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2243T>C	chr11.hg19:g.26663544T>C	ENSP00000256737:p.Leu748Pro		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	hg19	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995368	0.35226	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	6.07	6.07	0.98685	.	0.232790	0.43747	D	0.000531	T	0.37404	0.1002	N	0.03608	-0.345	0.58432	D	0.999996	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.30592	-0.9973	10	0.28530	T	0.3	.	10.8996	0.47043	0.0:0.0695:0.0:0.9305	.	650;748	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	P	732;732;748;650;602	ENSP00000440737:L732P;ENSP00000432576:L732P;ENSP00000256737:L748P;ENSP00000432394:L602P	ENSP00000256737:L748P	L	+	2	0	ANO3	26620120	1.000000	0.71417	0.963000	0.40424	0.930000	0.56654	5.868000	0.69605	2.326000	0.78906	0.533000	0.62120	CTT		0.408	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		C	26663544	T	C	26663544	3	2	5	1	0	0	0	0	1	0	0	0	698	1609	56	3	2329	3	ANO3	11	26663544	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10		26663544	108342972	56	452											
PAMR1	25891	hgsc.bcm.edu	37	11	35457562	35457562	+	Missense_Mutation	SNP	T	T	C	rs147274037		TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr11:35457562T>C	ENST00000378880.2	-	9	1667	c.1222A>G	c.(1222-1224)Acc>Gcc	p.T408A	PAMR1_ENST00000278360.3_Missense_Mutation_p.T425A|PAMR1_ENST00000378878.3_Missense_Mutation_p.T297A|PAMR1_ENST00000532848.1_Missense_Mutation_p.T368A	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	408	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGGAGCTGGGTATGCAGATGT	0.582																																																0								T	ALA/THR,ALA/THR	2,4402	4.2+/-10.8	0,2,2200	195	176	183		1222,1273	5.5	1	11	dbSNP_134	183	0,8596		0,0,4298	no	missense,missense	PAMR1	NM_001001991.1,NM_015430.2	58,58	0,2,6498	CC,CT,TT		0.0,0.0454,0.0154	probably-damaging,probably-damaging	408/721,425/738	35457562	2,12998	2202	4298	6500	SO:0001583	missense	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1222A>G	chr11.hg19:g.35457562T>C	ENSP00000368158:p.Thr408Ala		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	hg19	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.918376	0.73098	4.54E-4	0.0	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.54	5.54	0.83059	Complement control module (2);Sushi/SCR/CCP (3);	0.095778	0.64402	D	0.000001	T	0.70290	0.3207	L	0.29908	0.895	0.58432	D	0.999999	D;D;B	0.76494	0.996;0.999;0.433	D;D;B	0.83275	0.973;0.996;0.134	T	0.74250	-0.3726	10	0.87932	D	0	.	15.6714	0.77279	0.0:0.0:0.0:1.0	.	297;408;425	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	A	425;408;297;368;385	ENSP00000278360:T425A;ENSP00000368158:T408A;ENSP00000368156:T297A;ENSP00000433868:T368A;ENSP00000432591:T385A	ENSP00000278360:T425A	T	-	1	0	PAMR1	35414138	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.230000	0.42999	2.107000	0.64212	0.459000	0.35465	ACC		0.582	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		C	35457562	T	C	35457562	3	2	5	1	0	0	0	0	1	0	0	0	11415	1638	57	3	952	3	PAMR1	11	35457562	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	8794018	35457562	99548954	57	453											
GANAB	23193	hgsc.bcm.edu	37	11	62394377	62394377	+	Silent	SNP	C	C	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr11:62394377C>T	ENST00000356638.3	-	20	2368	c.2352G>A	c.(2350-2352)aaG>aaA	p.K784K	GANAB_ENST00000540933.1_Silent_p.K687K|GANAB_ENST00000534779.1_Silent_p.K692K|GANAB_ENST00000346178.4_Silent_p.K806K	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	784					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GACCATGATGCTTCTGGTAGC	0.517																																					Melanoma(23;1005 1074 15747 18937)											0													84	79	80					11																	62394377		2202	4299	6501	SO:0001819	synonymous_variant	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2352G>A	chr11.hg19:g.62394377C>T			A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	hg19	CCDS8026.1																																																																																				0.517	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		T	62394377	C	T	62394377	2	4	5	1	0	0	0	0	0	0	0	1	6235	796	28	2		2	GANAB	11	62394377	Silent	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	26936815	62394377	72612139	58	454											
NAALADL1	10004	hgsc.bcm.edu	37	11	64815657	64815657	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr11:64815657delC	ENST00000358658.3	-	10	1342	c.1315delG	c.(1315-1317)gtgfs	p.V439fs	NAALADL1_ENST00000339885.2_Frame_Shift_Del_p.V439fs|NAALADL1_ENST00000355369.2_Frame_Shift_Del_p.V439fs|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000356632.3_Frame_Shift_Del_p.V404fs|RN7SL114P_ENST00000582042.1_RNA|NAALADL1_ENST00000340252.4_Frame_Shift_Del_p.V490fs|NAALADL1_ENST00000355721.3_Frame_Shift_Del_p.V398fs	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	439	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ATGTAGGCCACCGTGCGCTCC	0.632																																																0													119	119	119					11																	64815657		2201	4297	6498	SO:0001589	frameshift_variant	10004			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1315delG	chr11.hg19:g.64815657delC	ENSP00000351484:p.Val439fs		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Frame_Shift_Del	DEL	ENST00000358658.3	hg19	CCDS31604.1																																																																																				0.632	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		-	64815657	C	-	64815657	7	5	5	1	0	1	0	1	0	0	0	0	10131	507	18	0	943	0	NAALADL1	11	64815657	Frame_Shift_Del	DEL	C	TCGA-2Z-A9J5-01A-21D-A382-10	2421280	64815657	70190859	59	455											
MUS81	80198	hgsc.bcm.edu	37	11	65628851	65628851	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr11:65628851A>T	ENST00000308110.4	+	3	645	c.296A>T	c.(295-297)gAg>gTg	p.E99V	MUS81_ENST00000533035.1_Missense_Mutation_p.E24V|CFL1_ENST00000525451.2_5'Flank|CFL1_ENST00000534769.1_5'UTR|CFL1_ENST00000531413.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	99					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CCATCTGGAGAGAACAGTCCA	0.607								Homologous recombination																																								0													33	32	32					11																	65628851		2191	4295	6486	SO:0001583	missense	80198				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.296A>T	chr11.hg19:g.65628851A>T	ENSP00000307853:p.Glu99Val		Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	hg19	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.77|10.77	1.444355|1.444355	0.25987|0.25987	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529857;ENST00000533035;ENST00000308110;ENST00000437855;ENST00000525768|ENST00000529374	T;T;T;T|.	0.49139|.	0.79;2.41;0.79;1.77|.	3.66|3.66	-0.0927|-0.0927	0.13655|0.13655	.|.	2.043970|.	0.01586|.	N|.	0.021309|.	T|T	0.20536|0.20536	0.0494|0.0494	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.15473|.	0.013|.	B|.	0.10450|.	0.005|.	T|T	0.26950|0.26950	-1.0088|-1.0088	10|5	0.28530|.	T|.	0.3|.	0.0131|0.0131	5.0512|5.0512	0.14508|0.14508	0.4401:0.4472:0.1127:0.0|0.4401:0.4472:0.1127:0.0	.|.	99|.	Q96NY9|.	MUS81_HUMAN|.	V|S	164;24;99;99;24|23	ENSP00000431979:E164V;ENSP00000432287:E24V;ENSP00000307853:E99V;ENSP00000431478:E24V|.	ENSP00000307853:E99V|.	E|R	+|+	2|3	0|2	MUS81|MUS81	65385427|65385427	0.009000|0.009000	0.17119|0.17119	0.004000|0.004000	0.12327|0.12327	0.013000|0.013000	0.08279|0.08279	0.123000|0.123000	0.15708|0.15708	-0.026000|-0.026000	0.13895|0.13895	0.448000|0.448000	0.29417|0.29417	GAG|AGA		0.607	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		T	65628851	A	T	65628851	3	4	5	1	0	0	0	0	1	0	0	0	9990	304	11	5	306	5	MUS81	11	65628851	Missense_Mutation	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10	813194	65628851	69377665	60	456											
C11orf82	220042	hgsc.bcm.edu	37	11	82643420	82643420	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr11:82643420C>T	ENST00000533655.1	+	6	1252	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	C11orf82_ENST00000329143.3_Missense_Mutation_p.P46L|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.P347L	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		347					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						ATGCGAGAGCCCCTTGAGTCA	0.408																																																0													98	108	105					11																	82643420		2203	4300	6503	SO:0001583	missense	220042																														ENST00000533655.1:c.1040C>T	chr11.hg19:g.82643420C>T	ENSP00000435421:p.Pro347Leu		Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	hg19	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	6.484	0.457558	0.12342	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.21932	2.22;2.22;1.98	5.58	-2.57	0.06248	.	1.219580	0.05461	N	0.551274	T	0.18383	0.0441	L	0.55481	1.735	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.30238	-0.9985	9	.	.	.	7.3012	5.3775	0.16174	0.0:0.4007:0.2401:0.3592	.	347	Q8IXT1	NOXIN_HUMAN	L	347;347;46	ENSP00000414687:P347L;ENSP00000435421:P347L;ENSP00000329930:P46L	.	P	+	2	0	C11orf82	82321068	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	0.291000	0.18994	-0.836000	0.04229	-0.259000	0.10710	CCC		0.408	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			T	82643420	C	T	82643420	3	4	5	1	0	0	0	0	1	0	0	0	1667	623	22	2	1054	2	C11orf82	11	82643420	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	17014569	82643420	52363096	61	457											
ARHGAP20	57569	hgsc.bcm.edu	37	11	110451689	110451689	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr11:110451689T>C	ENST00000260283.4	-	16	2265	c.1981A>G	c.(1981-1983)Aac>Gac	p.N661D	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.N204D|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.N625D|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.N635D|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.N635D|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.N638D|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.N625D	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	661					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ACTAAAATGTTCACCGGCTTG	0.517																																																0													83	82	82					11																	110451689		2201	4298	6499	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1981A>G	chr11.hg19:g.110451689T>C	ENSP00000260283:p.Asn661Asp		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	hg19	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	T	3.414	-0.119605	0.06838	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.09073	3.02;3.02;3.06;3.02;3.02;3.02;3.02	5.37	1.55	0.23275	.	1.230650	0.05450	N	0.549242	T	0.05593	0.0147	N	0.16478	0.41	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.40813	-0.9543	10	0.41790	T	0.15	.	3.1674	0.06540	0.243:0.2555:0.0:0.5016	.	635;661;638	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	D	661;635;204;638;625;635;625	ENSP00000260283:N661D;ENSP00000349660:N635D;ENSP00000437905:N204D;ENSP00000432076:N638D;ENSP00000436319:N625D;ENSP00000436522:N635D;ENSP00000431399:N625D	ENSP00000260283:N661D	N	-	1	0	ARHGAP20	109956899	0.000000	0.05858	0.099000	0.21106	0.006000	0.05464	-0.012000	0.12699	0.357000	0.24183	0.383000	0.25322	AAC		0.517	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		C	110451689	T	C	110451689	3	2	5	1	0	0	0	0	1	0	0	0	870	1783	62	3	1598	3	ARHGAP20	11	110451689	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	27808269	110451689	24554827	62	458											
CLEC7A	64581	hgsc.bcm.edu	37	12	10279210	10279211	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr12:10279210_10279211insA	ENST00000304084.8	-	3	453_454	c.299_300insT	c.(298-300)ttafs	p.L100fs	CLEC7A_ENST00000533022.1_Frame_Shift_Ins_p.L100fs|CLEC7A_ENST00000353231.5_Intron|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000298523.5_Intron	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	100					carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CACTGTCTTCTAAAGATGATTG	0.421																																																0																																										SO:0001589	frameshift_variant	64581			AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"C-type lectin domain containing"	14558	protein-coding gene	gene with protein product		606264	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.300dupT	chr12.hg19:g.10279213_10279213dupA	ENSP00000302569:p.Leu100fs		B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Frame_Shift_Ins	INS	ENST00000304084.8	hg19	CCDS41753.1																																																																																				0.421	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954		A	10279211	-	A	10279210	7	5	5	1	0	1	1	0	0	0	0	0	3523	1519	53	0	459	0	CLEC7A	12	10279210	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J5-01A-21D-A382-10		10279210	123572685	63	459											
FRS2	10818	hgsc.bcm.edu	37	12	69962872	69962872	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr12:69962872T>G	ENST00000550389.1	+	3	308	c.62T>G	c.(61-63)tTt>tGt	p.F21C	FRS2_ENST00000397997.2_Missense_Mutation_p.F21C|FRS2_ENST00000299293.2_Missense_Mutation_p.F21C|FRS2_ENST00000549921.1_Missense_Mutation_p.F21C	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	21	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CGGAACAAGTTTAAGGTCAGT	0.378																																																0													88	86	86					12																	69962872		1849	4090	5939	SO:0001583	missense	10818			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.62T>G	chr12.hg19:g.69962872T>G	ENSP00000447241:p.Phe21Cys		B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	hg19	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633974	0.87660	.	.	ENSG00000166225	ENST00000547219;ENST00000299293;ENST00000549921;ENST00000548154;ENST00000550389;ENST00000550937;ENST00000549092;ENST00000397997;ENST00000551325	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.22	5.22	0.72569	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.95367	0.8496	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95594	0.8657	9	.	.	.	-20.3769	15.4105	0.74914	0.0:0.0:0.0:1.0	.	21	Q8WU20	FRS2_HUMAN	C	21	ENSP00000299293:F21C;ENSP00000450048:F21C;ENSP00000447241:F21C;ENSP00000447804:F21C;ENSP00000381083:F21C;ENSP00000449432:F21C	.	F	+	2	0	FRS2	68249139	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.100000	0.63781	0.533000	0.62120	TTT		0.378	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		G	69962872	T	G	69962872	3	3	5	1	0	0	0	0	1	0	0	0	6063	1841	64	5	64	5	FRS2	12	69962872	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	59683662	69962872	63889023	64	460											
MYO1H	283446	hgsc.bcm.edu	37	12	109858829	109858829	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr12:109858829A>T	ENST00000431443.2	+	15	1623	c.1623A>T	c.(1621-1623)aaA>aaT	p.K541N	MYO1H_ENST00000310903.5_Missense_Mutation_p.K531N	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	541	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GACATCTGAAAGAAGTAAGTC	0.284																																																0													69	66	67					12																	109858829		1795	4064	5859	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1623A>T	chr12.hg19:g.109858829A>T	ENSP00000444076:p.Lys541Asn		F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	hg19		.	.	.	.	.	.	.	.	.	.	A	20.4	3.990003	0.74589	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87179	-2.22;-2.22	5.0	2.64	0.31445	.	.	.	.	.	D	0.90584	0.7048	M	0.87038	2.855	0.40543	D	0.981045	D	0.59357	0.985	P	0.53722	0.733	D	0.89020	0.3434	9	0.54805	T	0.06	.	8.3992	0.32574	0.8368:0.0:0.1632:0.0	.	531	F5H3C6	.	N	531;541	ENSP00000439182:K531N;ENSP00000444076:K541N	ENSP00000439182:K531N	K	+	3	2	MYO1H	108343212	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.758000	0.47565	0.379000	0.24794	0.533000	0.62120	AAA		0.284	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		T	109858829	A	T	109858829	3	4	5	1	0	0	0	0	1	0	0	0	10077	69	3	5	1651	5	MYO1H	12	109858829	Missense_Mutation	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10	39895957	109858829	23993066	65	461											
TSC22D1	8848	hgsc.bcm.edu	37	13	45008845	45008845	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr13:45008845A>G	ENST00000458659.2	-	3	3629	c.3139T>C	c.(3139-3141)Tcc>Ccc	p.S1047P	TSC22D1_ENST00000501704.2_Intron|RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000261489.2_Missense_Mutation_p.S118P	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1047					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GCAGGGGGGGAGCCAGTCTGC	0.627																																																0													26	31	29					13																	45008845		2201	4298	6499	SO:0001583	missense	8848			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.3139T>C	chr13.hg19:g.45008845A>G	ENSP00000397435:p.Ser1047Pro		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	hg19	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.682552	0.29872	.	.	ENSG00000102804	ENST00000458659;ENST00000261489	T	0.36878	1.23	5.91	5.91	0.95273	.	0.267097	0.27088	N	0.020995	T	0.51210	0.1661	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.965	D;P	0.77557	0.99;0.469	T	0.46020	-0.9221	10	0.42905	T	0.14	.	15.1833	0.72978	1.0:0.0:0.0:0.0	.	1047;118	Q15714;Q15714-2	T22D1_HUMAN;.	P	1047;118	ENSP00000397435:S1047P	ENSP00000261489:S118P	S	-	1	0	TSC22D1	43906845	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	1.907000	0.39897	2.254000	0.74563	0.533000	0.62120	TCC		0.627	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		G	45008845	A	G	45008845	3	3	5	1	0	0	0	0	1	0	0	0	16612	304	11	3	86	3	TSC22D1	13	45008845	Missense_Mutation	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10		45008845	70161033	66	462											
GPR183	1880	hgsc.bcm.edu	37	13	99947502	99947502	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr13:99947502T>G	ENST00000376414.4	-	2	981	c.898A>C	c.(898-900)Aat>Cat	p.N300H	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	300					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						ATGCAGCAATTGAAGTTCATC	0.388																																																0													101	93	96					13																	99947502		2203	4300	6503	SO:0001583	missense	1880			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.898A>C	chr13.hg19:g.99947502T>G	ENSP00000365596:p.Asn300His		B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	hg19	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.177974	0.78564	.	.	ENSG00000169508	ENST00000376414	T	0.52526	0.66	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70364	-0.4892	9	.	.	.	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	300	P32249	GP183_HUMAN	H	300	ENSP00000365596:N300H	.	N	-	1	0	GPR183	98745503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	AAT		0.388	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		G	99947502	T	G	99947502	3	3	5	1	0	0	0	0	1	0	0	0	6680	1812	63	5	191	5	GPR183	13	99947502	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	54938657	99947502	15222376	67	463											
SYNE2	23224	hgsc.bcm.edu	37	14	64593109	64593109	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr14:64593109T>A	ENST00000344113.4	+	72	13831	c.13619T>A	c.(13618-13620)cTc>cAc	p.L4540H	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4540H|SYNE2_ENST00000357395.3_Missense_Mutation_p.L925H|SYNE2_ENST00000394768.2_Missense_Mutation_p.L925H|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4491H|SYNE2_ENST00000555002.1_Missense_Mutation_p.L1174H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4540					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCCTGACCCTCAGTCAGTGC	0.428																																																0													82	81	81					14																	64593109		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13619T>A	chr14.hg19:g.64593109T>A	ENSP00000341781:p.Leu4540His		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234296	0.39498	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.62105	0.69;3.99;0.68;0.05;4.04;3.99	5.81	5.81	0.92471	.	0.145716	0.31542	N	0.007462	T	0.69424	0.3109	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.72338	0.917;0.95;0.977	T	0.72868	-0.4162	10	0.72032	D	0.01	.	14.7401	0.69448	0.0:0.0:0.0:1.0	.	925;4540;4540	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	H	4540;925;4540;4491;4491;1174;925	ENSP00000350719:L4540H;ENSP00000349969:L925H;ENSP00000341781:L4540H;ENSP00000452570:L4491H;ENSP00000450831:L1174H;ENSP00000378249:L925H	ENSP00000261678:L4491H	L	+	2	0	SYNE2	63662862	0.997000	0.39634	0.973000	0.42090	0.936000	0.57629	4.859000	0.62954	2.213000	0.71641	0.533000	0.62120	CTC		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64593109	T	A	64593109	3	1	5	1	0	0	0	0	1	0	0	0	15451	1551	54	5	13901	5	SYNE2	14	64593109	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10		64593109	42756431	68	464											
YLPM1	56252	hgsc.bcm.edu	37	14	75276225	75276225	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr14:75276225T>G	ENST00000552421.1	+	6	2670	c.2546T>G	c.(2545-2547)cTa>cGa	p.L849R	YLPM1_ENST00000325680.7_Missense_Mutation_p.L1555R|YLPM1_ENST00000238571.3_Missense_Mutation_p.L1360R			P49750	YLPM1_HUMAN	YLP motif containing 1	1360	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		cctccacctctacctcctcct	0.502																																																0													82	80	81					14																	75276225		2002	4190	6192	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2546T>G	chr14.hg19:g.75276225T>G	ENSP00000447921:p.Leu849Arg		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	hg19		.	.	.	.	.	.	.	.	.	.	T	6.984	0.551642	0.13374	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.09	4.19	0.49359	.	0.475155	0.19470	N	0.113468	T	0.27663	0.0680	N	0.14661	0.345	0.25321	N	0.989116	B;B	0.16603	0.018;0.018	B;B	0.20955	0.026;0.032	T	0.23762	-1.0179	9	0.62326	D	0.03	-0.0056	11.0988	0.48161	0.0:0.9121:0.0:0.0879	.	1360;1555	P49750-3;P49750-4	.;.	R	849;1555;1360;1268	.	ENSP00000238571:L1360R	L	+	2	0	YLPM1	74345978	0.171000	0.23029	0.575000	0.28536	0.367000	0.29736	2.720000	0.47252	1.109000	0.41680	-0.462000	0.05337	CTA		0.502	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		G	75276225	T	G	75276225	3	3	5	1	0	0	0	0	1	0	0	0	17491	1522	53	5	4690	5	YLPM1	14	75276225	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	10683116	75276225	32073315	69	465											
C14orf118	55668	hgsc.bcm.edu	37	14	76662242	76662242	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr14:76662242delA	ENST00000261530.7	+	9	1281	c.1215delA	c.(1213-1215)ggafs	p.G405fs	GPATCH2L_ENST00000553588.1_Frame_Shift_Del_p.D26fs|GPATCH2L_ENST00000312858.5_Frame_Shift_Del_p.G400fs|GPATCH2L_ENST00000556675.1_3'UTR	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	405																	TACACTGGGGACCACCATGTT	0.408																																																0													197	187	190					14																	76662242		2203	4300	6503	SO:0001589	frameshift_variant	55668			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1215delA	chr14.hg19:g.76662242delA	ENSP00000261530:p.Gly405fs		B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Frame_Shift_Del	DEL	ENST00000261530.7	hg19	CCDS9848.1																																																																																				0.408	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		-	76662242	A	-	76662242	7	5	5	1	0	1	0	1	0	0	0	0	1743	262	10	0	1289	0	C14orf118	14	76662242	Frame_Shift_Del	DEL	A	TCGA-2Z-A9J5-01A-21D-A382-10	1386017	76662242	30687298	70	466											
SPPL2A	84888	hgsc.bcm.edu	37	15	51028376	51028376	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr15:51028376A>T	ENST00000261854.5	-	8	1128	c.854T>A	c.(853-855)aTg>aAg	p.M285K		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	285					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TCTCACTTCCATGTTTTTGCC	0.348																																					Melanoma(50;790 1209 4069 22965 33125)											0													133	112	119					15																	51028376		2196	4294	6490	SO:0001583	missense	84888				CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.854T>A	chr15.hg19:g.51028376A>T	ENSP00000261854:p.Met285Lys		B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	hg19	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898643	0.33535	.	.	ENSG00000138600	ENST00000261854	T	0.17054	2.3	5.07	2.72	0.32119	.	0.534882	0.21346	N	0.076048	T	0.09512	0.0234	N	0.19112	0.55	0.22378	N	0.999157	B	0.22414	0.069	B	0.11329	0.006	T	0.31024	-0.9958	10	0.27785	T	0.31	-4.6682	7.4553	0.27264	0.7429:0.0:0.2571:0.0	.	285	Q8TCT8	PSL2_HUMAN	K	285	ENSP00000261854:M285K	ENSP00000261854:M285K	M	-	2	0	AC012100.1	48815668	0.996000	0.38824	1.000000	0.80357	0.815000	0.46073	4.339000	0.59322	0.350000	0.24002	-0.371000	0.07208	ATG		0.348	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		T	51028376	A	T	51028376	3	4	5	1	0	0	0	0	1	0	0	0	15093	217	8	5	740	5	SPPL2A	15	51028376	Missense_Mutation	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10		51028376	51503016	71	467											
KIAA1370	56204	hgsc.bcm.edu	37	15	52901851	52901851	+	Silent	SNP	T	T	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr15:52901851T>C	ENST00000261844.7	-	6	1412	c.1260A>G	c.(1258-1260)aaA>aaG	p.K420K	FAM214A_ENST00000546305.2_Silent_p.K427K	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	420																	CTTCTTTACCTTTTCCCACGT	0.413																																																0													67	60	62					15																	52901851		1821	4073	5894	SO:0001819	synonymous_variant	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1260A>G	chr15.hg19:g.52901851T>C			A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	hg19	CCDS45263.1																																																																																				0.413	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		C	52901851	T	C	52901851	2	2	5	1	0	0	0	0	0	0	0	1	8228	1606	56	3		3	KIAA1370	15	52901851	Silent	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	1873475	52901851	49629541	72	468											
POLG	5428	hgsc.bcm.edu	37	15	89870191	89870191	+	Silent	SNP	A	A	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr15:89870191A>G	ENST00000268124.5	-	8	1870	c.1537T>C	c.(1537-1539)Ttg>Ctg	p.L513L	POLG_ENST00000442287.2_Silent_p.L513L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	513					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCGATGGGCAACTTGCTGGCT	0.582								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)											0													139	129	132					15																	89870191		2200	4299	6499	SO:0001819	synonymous_variant	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1537T>C	chr15.hg19:g.89870191A>G			Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	hg19	CCDS10350.1																																																																																				0.582	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		G	89870191	A	G	89870191	2	3	5	1	0	0	0	0	0	0	0	1	12202	40	2	3		3	POLG	15	89870191	Silent	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10	36968340	89870191	12661201	73	469											
WFIKKN1	117166	hgsc.bcm.edu	37	16	682600	682600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr16:682600delA	ENST00000319070.2	+	2	512	c.190delA	c.(190-192)aagfs	p.K64fs		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	64	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GGCTGCTGAGAAGTGCTGCAT	0.697																																																0													22	24	24					16																	682600		2175	4293	6468	SO:0001589	frameshift_variant	117166			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.190delA	chr16.hg19:g.682600delA	ENSP00000324763:p.Lys64fs		Q7LDW0|Q8NBQ1|Q96S20	Frame_Shift_Del	DEL	ENST00000319070.2	hg19	CCDS10414.1																																																																																				0.697	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2	NM_053284		-	682600	A	-	682600	7	5	5	1	0	1	0	1	0	0	0	0	17363	247	9	0	196	0	WFIKKN1	16	682600	Frame_Shift_Del	DEL	A	TCGA-2Z-A9J5-01A-21D-A382-10		682600	89672153	74	470											
TFAP4	7023	hgsc.bcm.edu	37	16	4311843	4311843	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr16:4311843C>G	ENST00000204517.6	-	4	790	c.462G>C	c.(460-462)gaG>gaC	p.E154D		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	154	Leucine-zipper 2.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCTCAATCATCTCCCGCCGCA	0.692											OREG0023575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													38	36	37					16																	4311843		2196	4300	6496	SO:0001583	missense	7023			X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.462G>C	chr16.hg19:g.4311843C>G	ENSP00000204517:p.Glu154Asp	617	O60409	Missense_Mutation	SNP	ENST00000204517.6	hg19	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972243	0.34754	.	.	ENSG00000090447	ENST00000204517	D	0.99023	-5.34	5.03	5.03	0.67393	.	0.060936	0.64402	D	0.000005	D	0.97077	0.9045	L	0.46157	1.445	0.46078	D	0.998852	B	0.09022	0.002	B	0.08055	0.003	D	0.95121	0.8246	10	0.35671	T	0.21	.	11.4972	0.50415	0.0:0.9161:0.0:0.0839	.	154	Q01664	TFAP4_HUMAN	D	154	ENSP00000204517:E154D	ENSP00000204517:E154D	E	-	3	2	TFAP4	4251844	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.767000	0.26575	2.330000	0.79161	0.462000	0.41574	GAG		0.692	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		G	4311843	C	G	4311843	3	3	5	1	0	0	0	0	1	0	0	0	15797	912	32	4	570	4	TFAP4	16	4311843	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	3629243	4311843	86042910	75	471											
SOCS1	8651	hgsc.bcm.edu	37	16	11348785	11348785	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr16:11348785G>A	ENST00000332029.2	-	2	701	c.551C>T	c.(550-552)gCc>gTc	p.A184V	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	184	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.R127_*212del(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GCCCACGGTGGCCACGATGCG	0.741			"F, O"		"Hodgkin Lymphoma, PMBL"																																Colon(177;456 3548 27231)		Rec	yes		16	16p13.13	8651	suppressor of cytokine signaling 1		L	2	Whole gene deletion(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)											9	9	9					16																	11348785		2159	4260	6419	SO:0001583	missense	8651			U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"Suppressors of cytokine signaling", "SH2 domain containing"	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.551C>T	chr16.hg19:g.11348785G>A	ENSP00000329418:p.Ala184Val		O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	hg19	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948453	0.53186	.	.	ENSG00000185338	ENST00000332029	T	0.44083	0.93	4.25	4.25	0.50352	SOCS protein, C-terminal (4);	0.656455	0.15111	N	0.279946	T	0.45776	0.1359	L	0.54323	1.7	0.29000	N	0.887502	P	0.43662	0.814	P	0.47346	0.544	T	0.39683	-0.9602	10	0.41790	T	0.15	-20.1611	11.6312	0.51175	0.0:0.0:0.8094:0.1906	.	184	O15524	SOCS1_HUMAN	V	184	ENSP00000329418:A184V	ENSP00000329418:A184V	A	-	2	0	SOCS1	11256286	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.340000	0.43974	2.211000	0.71520	0.561000	0.74099	GCC		0.741	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			A	11348785	G	A	11348785	3	1	5	1	0	0	0	0	1	0	0	0	14919	1203	42	2	88	2	SOCS1	16	11348785	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	7036942	11348785	79005968	76	472											
SNX29	92017	hgsc.bcm.edu	37	16	12371799	12371799	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr16:12371799T>C	ENST00000566228.1	+	15	1757	c.1688T>C	c.(1687-1689)cTt>cCt	p.L563P	SNX29_ENST00000323433.4_Missense_Mutation_p.L178P|SNX29_ENST00000306030.3_Missense_Mutation_p.L178P	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	563						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GTGCCAAATCTTTGGAGTGTT	0.378																																																0													59	58	58					16																	12371799		1852	4102	5954	SO:0001583	missense	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1688T>C	chr16.hg19:g.12371799T>C	ENSP00000456480:p.Leu563Pro		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	hg19	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965775	0.53507	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.46	4.37	0.52481	.	0.155686	0.42682	N	0.000679	T	0.60534	0.2276	L	0.54323	1.7	0.45733	D	0.998639	.	.	.	.	.	.	T	0.61382	-0.7074	7	0.72032	D	0.01	-5.764	7.971	0.30127	0.0:0.0924:0.0:0.9076	.	.	.	.	P	178	.	ENSP00000306940:L178P	L	+	2	0	SNX29	12279300	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	1.877000	0.39598	0.920000	0.36970	0.533000	0.62120	CTT		0.378	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			C	12371799	T	C	12371799	3	2	5	1	0	0	0	0	1	0	0	0	14904	1609	56	3	559	3	SNX29	16	12371799	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	1023014	12371799	77982954	77	473											
NFATC3	4775	hgsc.bcm.edu	37	16	68156669	68156669	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr16:68156669delC	ENST00000346183.3	+	2	907	c.883delC	c.(883-885)cctfs	p.P295fs	RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000329524.4_Frame_Shift_Del_p.P295fs|NFATC3_ENST00000349223.5_Frame_Shift_Del_p.P295fs|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Frame_Shift_Del_p.P295fs	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	295	3 X SP repeats.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTCACCTGTTCCTTCACCTGG	0.557																																																0													112	100	104					16																	68156669		2198	4300	6498	SO:0001589	frameshift_variant	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.883delC	chr16.hg19:g.68156669delC	ENSP00000300659:p.Pro295fs		O75211|Q14516|Q99840|Q99841|Q99842	Frame_Shift_Del	DEL	ENST00000346183.3	hg19	CCDS10860.1																																																																																				0.557	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		-	68156669	C	-	68156669	7	5	5	1	0	1	0	1	0	0	0	0	10366	855	30	0	889	0	NFATC3	16	68156669	Frame_Shift_Del	DEL	C	TCGA-2Z-A9J5-01A-21D-A382-10	55784870	68156669	22198084	78	474											
CHRNE	1145	hgsc.bcm.edu	37	17	4802092	4802092	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr17:4802092A>G	ENST00000293780.4	-	12	1431	c.1421T>C	c.(1420-1422)tTc>tCc	p.F474S	C17orf107_ENST00000521575.1_5'Flank|CHRNE_ENST00000575637.1_5'Flank|C17orf107_ENST00000381365.3_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	474					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GGCCCCGAGGAAGATGAGGCT	0.602																																																0													57	41	46					17																	4802092		2202	4300	6502	SO:0001583	missense	1145			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.1421T>C	chr17.hg19:g.4802092A>G	ENSP00000293780:p.Phe474Ser		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	hg19	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829048	0.90955	.	.	ENSG00000108556	ENST00000293780	D	0.88741	-2.42	4.76	4.76	0.60689	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95472	0.8529	M	0.93420	3.415	0.53688	D	0.999973	D	0.89917	1.0	D	0.91635	0.999	D	0.96218	0.9158	10	0.87932	D	0	.	12.2686	0.54693	1.0:0.0:0.0:0.0	.	474	Q04844	ACHE_HUMAN	S	474	ENSP00000293780:F474S	ENSP00000293780:F474S	F	-	2	0	CHRNE	4742871	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.047000	0.93823	2.001000	0.58596	0.533000	0.62120	TTC		0.602	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			G	4802092	A	G	4802092	3	3	5	1	0	0	0	0	1	0	0	0	3397	246	9	3	64	3	CHRNE	17	4802092	Missense_Mutation	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10		4802092	76393118	79	475											
ALKBH5	54890	hgsc.bcm.edu	37	17	18088203	18088203	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr17:18088203G>C	ENST00000399138.4	+	1	651	c.646G>C	c.(646-648)Gtg>Ctg	p.V216L	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	216					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					GCGCCCCATCGTGTCCGTGTC	0.617																																					Ovarian(166;154 1953 40235 46283 46309)											0													63	70	68					17																	18088203		2164	4257	6421	SO:0001583	missense	54890			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.646G>C	chr17.hg19:g.18088203G>C	ENSP00000382091:p.Val216Leu		B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	ENST00000399138.4	hg19	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590056	0.86851	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	T	0.13307	2.6	5.31	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	L	0.58669	1.825	0.80722	D	1	P	0.47106	0.89	P	0.47346	0.544	T	0.01146	-1.1437	10	0.40728	T	0.16	0.4929	15.4042	0.74866	0.0:0.1394:0.8606:0.0	.	216	Q6P6C2-2	.	L	216;205;216	ENSP00000382091:V216L	ENSP00000261650:V216L	V	+	1	0	ALKBH5	18028928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.861000	0.87004	2.484000	0.83849	0.655000	0.94253	GTG		0.617	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		C	18088203	G	C	18088203	3	2	5	1	0	0	0	0	1	0	0	0	530	1145	40	4	648	4	ALKBH5	17	18088203	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	13286111	18088203	63107007	80	476											
SLC47A1	55244	hgsc.bcm.edu	37	17	19459000	19459000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr17:19459000G>T	ENST00000270570.4	+	8	822	c.736G>T	c.(736-738)Gga>Tga	p.G246*	SLC47A1_ENST00000542886.1_Missense_Mutation_p.G213V|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000395585.1_Nonsense_Mutation_p.G246*|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000436810.2_Nonsense_Mutation_p.G223*|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Nonsense_Mutation_p.G246*	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	246					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	AGCTACATGGGGAGGTAATGA	0.507																																																0													122	112	116					17																	19459000		2203	4300	6503	SO:0001587	stop_gained	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.736G>T	chr17.hg19:g.19459000G>T	ENSP00000270570:p.Gly246*		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Nonsense_Mutation	SNP	ENST00000270570.4	hg19	CCDS11209.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.249755|7.249755	0.98164|0.98164	.|.	.|.	ENSG00000142494|ENSG00000142494	ENST00000542886|ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.325890|0.325890	0.36338|0.36338	N|N	0.002649|0.002649	T|.	0.74030|.	0.3663|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72714|.	-0.4210|.	6|.	0.87932|0.39692	D|T	0|0.17	-5.9107|-5.9107	18.0822|18.0822	0.89444|0.89444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	213|223;246;246;246	.|.	ENSP00000440435:G213V|ENSP00000270570:G246X	G|G	+|+	2|1	0|0	SLC47A1|SLC47A1	19399592|19399592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	7.096000|7.096000	0.76960|0.76960	2.517000|2.517000	0.84864|0.84864	0.650000|0.650000	0.86243|0.86243	GGG|GGA		0.507	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		T	19459000	G	T	19459000	4	4	5	1	0	0	0	0	0	1	0	0	14653	1233	43	4	766	4	SLC47A1	17	19459000	Nonsense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	1370797	19459000	61736210	81	477											
MYO18A	399687	hgsc.bcm.edu	37	17	27438845	27438845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr17:27438845delG	ENST00000527372.1	-	16	2815	c.2635delC	c.(2635-2637)ctgfs	p.L880fs	MYO18A_ENST00000531253.1_Frame_Shift_Del_p.L880fs|MYO18A_ENST00000533112.1_Frame_Shift_Del_p.L880fs|MYO18A_ENST00000354329.4_Frame_Shift_Del_p.L880fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	880	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGCCAGAGCAGGCCCCTCGCC	0.612											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(182;472 2015 7001 15270 22562)											0													43	49	47					17																	27438845		1884	4105	5989	SO:0001589	frameshift_variant	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2635delC	chr17.hg19:g.27438845delG	ENSP00000437073:p.Leu880fs	794	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Frame_Shift_Del	DEL	ENST00000527372.1	hg19	CCDS45642.1																																																																																				0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		-	27438845	G	-	27438845	7	5	5	1	0	1	0	1	0	0	0	0	10067	991	35	0	3637	0	MYO18A	17	27438845	Frame_Shift_Del	DEL	G	TCGA-2Z-A9J5-01A-21D-A382-10	7979845	27438845	53756365	82	478											
EZH1	2145	hgsc.bcm.edu	37	17	40870014	40870014	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr17:40870014T>C	ENST00000428826.2	-	10	1124	c.1003A>G	c.(1003-1005)Aca>Gca	p.T335A	EZH1_ENST00000590078.1_Missense_Mutation_p.T265A|EZH1_ENST00000592743.1_Missense_Mutation_p.T335A|EZH1_ENST00000415827.2_Missense_Mutation_p.T326A|EZH1_ENST00000435174.1_Missense_Mutation_p.T196A|EZH1_ENST00000585893.1_Missense_Mutation_p.T295A			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	335					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.T335A(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AAGCAGTCTGTGCCACATGGT	0.428																																																1	Substitution - Missense(1)	urinary_tract(1)											161	146	151					17																	40870014		2203	4300	6503	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1003A>G	chr17.hg19:g.40870014T>C	ENSP00000404658:p.Thr335Ala		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	hg19	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	9.108	1.005805	0.19199	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.77358	-1.09;-1.09	4.51	-2.48	0.06423	.	0.844588	0.11228	N	0.585983	T	0.46014	0.1371	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.31586	-0.9938	10	0.12430	T	0.62	.	1.1979	0.01878	0.2247:0.3103:0.1147:0.3503	.	196;295;341;335	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	A	338;335;295;196	ENSP00000404658:T335A;ENSP00000404071:T196A	ENSP00000264646:T338A	T	-	1	0	EZH1	38123540	0.006000	0.16342	0.989000	0.46669	0.998000	0.95712	-0.035000	0.12205	-0.242000	0.09667	0.460000	0.39030	ACA		0.428	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		C	40870014	T	C	40870014	3	2	5	1	0	0	0	0	1	0	0	0	5335	1696	59	3	1288	3	EZH1	17	40870014	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	13431169	40870014	40325196	83	479											
IGF2BP1	10642	hgsc.bcm.edu	37	17	47075185	47075185	+	Silent	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr17:47075185G>A	ENST00000290341.3	+	1	412	c.78G>A	c.(76-78)aaG>aaA	p.K26K	RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Silent_p.K26K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	26	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGGAGCACAAGATCTCCTACA	0.587																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)											0													115	111	113					17																	47075185		2203	4300	6503	SO:0001819	synonymous_variant	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.78G>A	chr17.hg19:g.47075185G>A			C9JT33	Silent	SNP	ENST00000290341.3	hg19	CCDS11543.1																																																																																				0.587	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		A	47075185	G	A	47075185	2	1	5	1	0	0	0	0	0	0	0	1	7575	933	33	2		2	IGF2BP1	17	47075185	Silent	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	6205171	47075185	34120025	84	480											
AFG3L2	10939	hgsc.bcm.edu	37	18	12340242	12340242	+	Silent	SNP	A	A	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr18:12340242A>C	ENST00000269143.3	-	15	2169	c.1938T>G	c.(1936-1938)gcT>gcG	p.A646A		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	646					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGTCATCTTGAGCACCAGTTG	0.393																																																0													146	140	142					18																	12340242		2203	4300	6503	SO:0001819	synonymous_variant	10939			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1938T>G	chr18.hg19:g.12340242A>C			Q6P1L0	Silent	SNP	ENST00000269143.3	hg19	CCDS11859.1																																																																																				0.393	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		C	12340242	A	C	12340242	2	2	5	1	0	0	0	0	0	0	0	1	360	291	11	5		5	AFG3L2	18	12340242	Silent	SNP	A	TCGA-2Z-A9J5-01A-21D-A382-10		12340242	65737006	85	481											
DAZAP1	26528	hgsc.bcm.edu	37	19	1434904	1434904	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr19:1434904G>C	ENST00000233078.4	+	12	1378	c.1217G>C	c.(1216-1218)cGa>cCa	p.R406P	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	406					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCCTACCGACGCTAGCCC	0.672																																																0													9	10	10					19																	1434904		2136	4184	6320	SO:0001583	missense	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1217G>C	chr19.hg19:g.1434904G>C	ENSP00000233078:p.Arg406Pro		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	hg19	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091413	0.76756	.	.	ENSG00000071626	ENST00000233078	T	0.34275	1.37	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.81914	0.989;0.989;0.995	T	0.53215	-0.8470	10	0.87932	D	0	.	17.8389	0.88709	0.0:0.0:1.0:0.0	.	473;406;172	Q5IRN4;Q96EP5;B3KS63	.;DAZP1_HUMAN;.	P	406	ENSP00000233078:R406P	ENSP00000233078:R406P	R	+	2	0	DAZAP1	1385904	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.449000	0.97603	2.454000	0.82982	0.561000	0.74099	CGA		0.672	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		C	1434904	G	C	1434904	3	2	5	1	0	0	0	0	1	0	0	0	4246	1058	37	4	1356	4	DAZAP1	19	1434904	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10		1434904	57694079	86	482											
NOTCH3	4854	hgsc.bcm.edu	37	19	15292387	15292387	+	Splice_Site	SNP	C	C	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr19:15292387C>T	ENST00000263388.2	-	17	2867	c.2792G>A	c.(2791-2793)aGc>aAc	p.S931N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	931	EGF-like 24. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCGCCCACCTGGGGCTGCA	0.682																																																0													7	6	7					19																	15292387		1946	3760	5706	SO:0001630	splice_region_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2792+1G>A	chr19.hg19:g.15292387C>T			Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	hg19	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091511	0.94149	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.91686	-2.89	5.45	5.45	0.79879	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.37857	N	0.001920	D	0.90745	0.7095	N	0.04820	-0.15	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.81914	0.995;0.968	D	0.90376	0.4384	9	.	.	.	.	18.0459	0.89332	0.0:1.0:0.0:0.0	.	882;931	Q59FL3;Q9UM47	.;NOTC3_HUMAN	N	931;881	ENSP00000263388:S931N	.	S	-	2	0	NOTCH3	15153387	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.739000	0.47409	2.569000	0.86673	0.561000	0.74099	AGC		0.682	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	Missense_Mutation	T	15292387	C	T	15292387	5	4	5	1	0	0	0	0	0	0	1	0	10552	695	24	2	4241	2	NOTCH3	19	15292387	Splice_Site	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	13857483	15292387	43836596	87	483											
IFI30	10437	hgsc.bcm.edu	37	19	18286479	18286479	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr19:18286479T>C	ENST00000407280.3	+	4	630	c.455T>C	c.(454-456)tTt>tCt	p.F152S	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	152					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 II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						ATGGAAGAGTTTGAGGACATG	0.577																																																0													42	43	43					19																	18286479		2019	4194	6213	SO:0001583	missense	10437			J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"gamma-interferon-inducible lysosomal thiol reductase", "interferon gamma-inducible protein 30 preproprotein"	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.455T>C	chr19.hg19:g.18286479T>C	ENSP00000384886:p.Phe152Ser		Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	hg19	CCDS46015.1	.	.	.	.	.	.	.	.	.	.	T	1.463	-0.561981	0.03939	.	.	ENSG00000216490	ENST00000407280	.	.	.	4.4	3.38	0.38709	.	.	.	.	.	T	0.11367	0.0277	N	0.01284	-0.91	0.09310	N	1	B	0.16166	0.016	B	0.17433	0.018	T	0.27054	-1.0085	8	0.07175	T	0.84	-23.2549	7.7231	0.28744	0.0:0.1025:0.0:0.8975	.	152	P13284	GILT_HUMAN	S	152	.	ENSP00000384886:F152S	F	+	2	0	IFI30	18147479	0.047000	0.20315	0.668000	0.29813	0.003000	0.03518	1.938000	0.40203	1.983000	0.57843	0.459000	0.35465	TTT		0.577	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		C	18286479	T	C	18286479	3	2	5	1	0	0	0	0	1	0	0	0	7517	1841	64	3	469	3	IFI30	19	18286479	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	2994092	18286479	40842504	88	484											
SIGLEC10	89790	hgsc.bcm.edu	37	19	51920173	51920173	+	Silent	SNP	G	G	A	rs139091162		TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr19:51920173G>A	ENST00000339313.5	-	3	569	c.453C>T	c.(451-453)ccC>ccT	p.P151P	SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000353836.5_Silent_p.P151P|SIGLEC10_ENST00000525998.1_Silent_p.P151P|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.P151P|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000432469.2_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	151	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCAGGGTCTCGGGGATGTAGA	0.622																																																0								G	,,,,,,	2,4404		0,2,2201	67	78	75		,453,,,,,453	-9.4	0	19	dbSNP_134	75	0,8600		0,0,4300	no	intron,coding-synonymous,intron,intron,intron,intron,coding-synonymous	SIGLEC10	NM_001171156.1,NM_001171157.1,NM_001171158.1,NM_001171159.1,NM_001171160.1,NM_001171161.1,NM_033130.4	,,,,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,,,	,151/603,,,,,151/698	51920173	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.453C>T	chr19.hg19:g.51920173G>A			A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	hg19	CCDS12832.1																																																																																				0.622	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		A	51920173	G	A	51920173	2	1	5	1	0	0	0	0	0	0	0	1	14312	1103	39	1		1	SIGLEC10	19	51920173	Silent	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	33633694	51920173	7208810	89	485											
ZNF350	59348	hgsc.bcm.edu	37	19	52468148	52468148	+	Missense_Mutation	SNP	C	C	T	rs148220969		TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr19:52468148C>T	ENST00000243644.4	-	5	1785	c.1558G>A	c.(1558-1560)Gtg>Atg	p.V520M	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	520					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V520M(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TAATTGATCACGGAAGGCACA	0.413																																																1	Substitution - Missense(1)	endometrium(1)						C	MET/VAL	0,4406		0,0,2203	103	90	95		1558	1.4	0	19	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF350	NM_021632.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	520/533	52468148	1,13005	2203	4300	6503	SO:0001583	missense	59348			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"Zinc fingers, C2H2-type", "-"	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1558G>A	chr19.hg19:g.52468148C>T	ENSP00000243644:p.Val520Met		Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	hg19	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367472	0.24771	0.0	1.16E-4	ENSG00000256683	ENST00000243644	T	0.05855	3.38	3.64	1.41	0.22369	.	0.275159	0.19550	N	0.111587	T	0.03915	0.0110	L	0.34521	1.04	0.09310	N	1	P	0.34587	0.458	B	0.19391	0.025	T	0.39761	-0.9598	10	0.48119	T	0.1	.	6.2576	0.20881	0.0:0.7534:0.0:0.2466	.	520	Q9GZX5	ZN350_HUMAN	M	520	ENSP00000243644:V520M	ENSP00000243644:V520M	V	-	1	0	ZNF350	57159960	0.000000	0.05858	0.031000	0.17742	0.243000	0.25628	-0.184000	0.09698	0.763000	0.33175	-0.186000	0.12905	GTG		0.413	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		T	52468148	C	T	52468148	3	4	5	1	0	0	0	0	1	0	0	0	17868	536	19	1	44	1	ZNF350	19	52468148	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	547975	52468148	6660835	90	486											
ZNF549	256051	hgsc.bcm.edu	37	19	58049579	58049583	+	Frame_Shift_Del	DEL	TCACT	TCACT	-			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	TCACT	TCACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr19:58049579_58049583delTCACT	ENST00000376233.3	+	4	1388_1392	c.1207_1211delTCACT	c.(1207-1212)tcacttfs	p.SL403fs	ZNF549_ENST00000240719.3_Frame_Shift_Del_p.SL390fs|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATACAAACAGTCACTTCTTGATCAC	0.434																																																0																																										SO:0001589	frameshift_variant	256051			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"Zinc fingers, C2H2-type", "-"	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1207_1211delTCACT	chr19.hg19:g.58049579_58049583delTCACT	ENSP00000365407:p.Ser403fs		B3KV91|O43336|Q8NAR4	Frame_Shift_Del	DEL	ENST00000376233.3	hg19	CCDS56106.1																																																																																				0.434	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		-	58049583	TCACT	-	58049579	7	5	5	1	0	1	0	1	0	0	0	0	17986	1667	58	0	1178	0	ZNF549	19	58049579	Frame_Shift_Del	DEL	TCACT	TCGA-2Z-A9J5-01A-21D-A382-10	5581431	58049579	1079404	91	487											
ZSCAN22	342945	hgsc.bcm.edu	37	19	58849868	58849868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr19:58849868C>T	ENST00000329665.4	+	3	799	c.652C>T	c.(652-654)Cag>Tag	p.Q218*		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	218					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCCCACAGACCAGCGTGGCCG	0.517																																																0													149	152	151					19																	58849868		2203	4300	6503	SO:0001587	stop_gained	342945			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.652C>T	chr19.hg19:g.58849868C>T	ENSP00000332433:p.Gln218*		Q15922|Q7Z3L8	Nonsense_Mutation	SNP	ENST00000329665.4	hg19	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930821	0.73327	.	.	ENSG00000182318	ENST00000329665	.	.	.	4.02	0.338	0.15974	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	7.3595	0.26737	0.0:0.5848:0.3188:0.0964	.	.	.	.	X	218	.	ENSP00000332433:Q218X	Q	+	1	0	ZSCAN22	63541680	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.156000	0.10100	0.350000	0.24002	0.313000	0.20887	CAG		0.517	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		T	58849868	C	T	58849868	4	4	5	1	0	0	0	0	0	1	0	0	18239	595	21	2	658	2	ZSCAN22	19	58849868	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	800289	58849868	279115	92	488											
SDCBP2	27111	hgsc.bcm.edu	37	20	1294040	1294040	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr20:1294040G>A	ENST00000360779.3	-	5	501	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	SDCBP2_ENST00000381812.1_Missense_Mutation_p.H110Y|SDCBP2_ENST00000339987.3_Missense_Mutation_p.H110Y|SDCBP2_ENST00000467129.1_5'Flank|SDCBP2_ENST00000381808.3_Missense_Mutation_p.H25Y	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	110	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						TTGCACAGGTGGATCTCGCGC	0.716																																																0													27	27	27					20																	1294040		2202	4298	6500	SO:0001583	missense	27111			AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.328C>T	chr20.hg19:g.1294040G>A	ENSP00000354013:p.His110Tyr		O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Missense_Mutation	SNP	ENST00000360779.3	hg19	CCDS42848.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859249	0.32884	.	.	ENSG00000125775	ENST00000381812;ENST00000381808;ENST00000360779;ENST00000339987	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.01	3.08	0.35506	PDZ/DHR/GLGF (3);	0.270706	0.36555	N	0.002529	T	0.19485	0.0468	L	0.46157	1.445	0.32669	N	0.517107	B;B	0.22003	0.063;0.003	B;B	0.17433	0.018;0.012	T	0.21690	-1.0238	10	0.08179	T	0.78	-6.8767	4.5438	0.12071	0.1812:0.0:0.6438:0.175	.	110;110	B4DKI5;Q9H190	.;SDCB2_HUMAN	Y	110;25;110;110	ENSP00000371233:H110Y;ENSP00000371229:H25Y;ENSP00000354013:H110Y;ENSP00000342935:H110Y	ENSP00000342935:H110Y	H	-	1	0	SDCBP2	1242040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.052000	0.49893	0.708000	0.31955	0.462000	0.41574	CAC		0.716	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077513.2	NM_080489		A	1294040	G	A	1294040	3	1	5	1	0	0	0	0	1	0	0	0	13962	1348	47	2	570	2	SDCBP2	20	1294040	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10		1294040	61731480	93	489											
LRRN4	164312	hgsc.bcm.edu	37	20	6031523	6031523	+	Silent	SNP	G	G	A			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr20:6031523G>A	ENST00000378858.4	-	3	986	c.762C>T	c.(760-762)aaC>aaT	p.N254N		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	254					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GCTGCTGCAGGTTGGGGGTCA	0.552																																																0													133	123	127					20																	6031523		2203	4300	6503	SO:0001819	synonymous_variant	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.762C>T	chr20.hg19:g.6031523G>A			A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	hg19	CCDS13097.1																																																																																				0.552	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		A	6031523	G	A	6031523	2	1	5	1	0	0	0	0	0	0	0	1	9039	1252	44	2		2	LRRN4	20	6031523	Silent	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10	4737483	6031523	56993997	94	490											
C20orf112	140688	hgsc.bcm.edu	37	20	31044026	31044026	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr20:31044026C>G	ENST00000359676.5	-	3	424	c.282G>C	c.(280-282)aaG>aaC	p.K94N	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		94						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCGGCGGGAGCTTGTCACACA	0.682																																																0													51	49	50					20																	31044026		2202	4298	6500	SO:0001583	missense	140688																														ENST00000359676.5:c.282G>C	chr20.hg19:g.31044026C>G	ENSP00000352704:p.Lys94Asn		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	hg19	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957547	0.73902	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	5.1	5.1	0.69264	.	0.203164	0.43110	D	0.000607	T	0.55194	0.1905	L	0.50333	1.59	0.80722	D	1	P	0.44429	0.835	P	0.44477	0.451	T	0.60831	-0.7185	9	0.87932	D	0	-7.3123	11.0544	0.47909	0.0:0.9154:0.0:0.0846	.	94	Q96MY1	CT112_HUMAN	N	94	.	ENSP00000352704:K94N	K	-	3	2	C20orf112	30507687	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.181000	0.32017	2.378000	0.81104	0.561000	0.74099	AAG		0.682	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			G	31044026	C	G	31044026	3	3	5	1	0	0	0	0	1	0	0	0	2083	796	28	4	1052	4	C20orf112	20	31044026	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	25012503	31044026	31981494	95	491											
ZNF512B	57473	hgsc.bcm.edu	37	20	62595216	62595216	+	Missense_Mutation	SNP	C	C	T	rs370483162		TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr20:62595216C>T	ENST00000450537.1	-	9	1591	c.1531G>A	c.(1531-1533)Gtc>Atc	p.V511I	ZNF512B_ENST00000217130.3_Missense_Mutation_p.V511I|ZNF512B_ENST00000369888.1_Missense_Mutation_p.V511I			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GTGGGGCAGACGGCTTCCCCG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17133	0.0		0.0	False		,,,				2504	0.001															0								C	ILE/VAL	0,4406		0,0,2203	68	68	68		1531	2.7	1	20		68	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF512B	NM_020713.1	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	511/893	62595216	1,13003	2203	4299	6502	SO:0001583	missense	57473			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1531G>A	chr20.hg19:g.62595216C>T	ENSP00000393795:p.Val511Ile		Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	hg19	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392201	0.25118	0.0	1.16E-4	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.26067	1.76;1.76;1.76	4.62	2.68	0.31781	.	0.224107	0.37261	N	0.002172	T	0.20659	0.0497	L	0.50333	1.59	0.29642	N	0.844651	B	0.12630	0.006	B	0.08055	0.003	T	0.16041	-1.0416	10	0.24483	T	0.36	-14.6217	8.8556	0.35225	0.0:0.8211:0.0:0.1789	.	511	Q96KM6	Z512B_HUMAN	I	511	ENSP00000358904:V511I;ENSP00000393795:V511I;ENSP00000217130:V511I	ENSP00000217130:V511I	V	-	1	0	ZNF512B	62065660	0.039000	0.19947	0.980000	0.43619	0.635000	0.38103	0.410000	0.21098	0.384000	0.24942	-0.444000	0.05651	GTC		0.652	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		T	62595216	C	T	62595216	3	4	5	1	0	0	0	0	1	0	0	0	17962	536	19	1	1183	1	ZNF512B	20	62595216	Missense_Mutation	SNP	C	TCGA-2Z-A9J5-01A-21D-A382-10	31551190	62595216	430304	96	492											
MN1	4330	hgsc.bcm.edu	37	22	28194900	28194900	+	Silent	SNP	T	T	C	rs202212250|rs530519178	byFrequency	TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr22:28194900T>C	ENST00000302326.4	-	1	2586	c.1632A>G	c.(1630-1632)caA>caG	p.Q544Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgttgct	0.647			T	ETV6	"AML, meningioma"								C|||	5	0.000998403	0.0023	0.0	5008	,	,		12597	0.0		0.0	False		,,,				2504	0.002						Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0																																										SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1632A>G	chr22.hg19:g.28194900T>C			A9Z1V9	Silent	SNP	ENST00000302326.4	hg19	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		C	28194900	T	C	28194900	2	2	5	1	0	0	0	0	0	0	0	1	9675	1722	60	3		3	MN1	22	28194900	Silent	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10		28194900	23109666	97	493											
CPT1B	1375	hgsc.bcm.edu	37	22	51009666	51009666	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chr22:51009666T>C	ENST00000360719.2	-	15	1933	c.1796A>G	c.(1795-1797)gAg>gGg	p.E599G	CPT1B_ENST00000434492.2_Missense_Mutation_p.E394G|CPT1B_ENST00000440709.1_Missense_Mutation_p.E518G|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.E599G|CPT1B_ENST00000395650.2_Missense_Mutation_p.E599G|CPT1B_ENST00000457250.1_Missense_Mutation_p.E565G|CPT1B_ENST00000405237.3_Missense_Mutation_p.E599G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	599					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGTCCGTCCCTCCCGGAACAT	0.572																																					Esophageal Squamous(170;988 1933 25577 30295 48163)											0													126	105	112					22																	51009666		2203	4300	6503	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1796A>G	chr22.hg19:g.51009666T>C	ENSP00000353945:p.Glu599Gly		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	hg19	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	T	31	5.076517	0.94000	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.82	5.82	0.92795	.	0.102840	0.64402	D	0.000004	D	0.94175	0.8131	M	0.83312	2.635	0.80722	D	1	P;D;D;D	0.63046	0.822;0.984;0.986;0.992	B;D;D;D	0.65874	0.341;0.939;0.911;0.911	D	0.94829	0.7994	10	0.87932	D	0	-34.8941	14.122	0.65195	0.0:0.0:0.0:1.0	.	518;565;394;599	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	G	599;599;599;565;518;394;599	ENSP00000385486:E599G;ENSP00000312189:E599G;ENSP00000353945:E599G;ENSP00000409342:E565G;ENSP00000414713:E518G;ENSP00000410966:E394G;ENSP00000379011:E599G	ENSP00000312189:E599G	E	-	2	0	CPT1B	49356532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.611000	0.82962	2.224000	0.72417	0.459000	0.35465	GAG		0.572	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		C	51009666	T	C	51009666	3	2	5	1	0	0	0	0	1	0	0	0	3834	1551	54	3	542	3	CPT1B	22	51009666	Missense_Mutation	SNP	T	TCGA-2Z-A9J5-01A-21D-A382-10	22814766	51009666	294900	98	494											
HUWE1	10075	hgsc.bcm.edu	37	X	53565805	53565805	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J5-01A-21D-A382-10	TCGA-2Z-A9J5-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	237ddfd6-6bf8-4d4b-aa08-0da80f631160	b35fa663-4ad4-4c0b-9d5a-c6490a0c9009	g.chrX:53565805G>T	ENST00000342160.3	-	75	12326	c.11869C>A	c.(11869-11871)Cgc>Agc	p.R3957S	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3957S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3957					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGCAAAGCGAAGGAACTTC	0.498																																																0													34	27	29					X																	53565805		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11869C>A	chrX.hg19:g.53565805G>T	ENSP00000340648:p.Arg3957Ser		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	hg19	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.00|14.00	2.406129|2.406129	0.42715|0.42715	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.36520|.	1.25;1.25|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.061518|.	0.64402|.	D|.	0.000003|.	T|.	0.42291|.	0.1196|.	N|N	0.17379|0.17379	0.485|0.485	0.58432|0.58432	D|D	0.999999|0.999999	B;D;D|.	0.63046|.	0.245;0.987;0.992|.	B;D;D|.	0.70487|.	0.044;0.931;0.969|.	T|.	0.30297|.	-0.9983|.	10|.	0.26408|.	T|.	0.33|.	.|.	11.8503|11.8503	0.52407|0.52407	0.0:0.0:0.825:0.175|0.0:0.0:0.825:0.175	.|.	779;3957;3941|.	Q5H935;Q7Z6Z7;Q7Z6Z7-2|.	.;HUWE1_HUMAN;.|.	S|X	3957|2990;779	ENSP00000340648:R3957S;ENSP00000262854:R3957S|.	ENSP00000262854:R3957S|.	R|S	-|-	1|2	0|0	HUWE1|HUWE1	53582530|53582530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.789000|6.789000	0.75110|0.75110	2.276000|2.276000	0.75962|0.75962	0.600000|0.600000	0.82982|0.82982	CGC|TCG		0.498	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53565805	G	T	53565805	3	4	5	1	0	0	0	0	1	0	0	0	7463	1058	37	4	1291	4	HUWE1	23	53565805	Missense_Mutation	SNP	G	TCGA-2Z-A9J5-01A-21D-A382-10		53565805	101704755	99	495											
HSPG2	3339	hgsc.bcm.edu	37	1	22176680	22176680	+	Missense_Mutation	SNP	C	C	T	rs372361312		TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr1:22176680C>T	ENST00000374695.3	-	57	7379	c.7300G>A	c.(7300-7302)Ggg>Agg	p.G2434R	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2434	Ig-like C2-type 9.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGGTGACCCCAAGTGCTGGG	0.637																																																0													37	42	40					1																	22176680		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7300G>A	chr1.hg19:g.22176680C>T	ENSP00000363827:p.Gly2434Arg		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	hg19	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075228	0.36662	.	.	ENSG00000142798	ENST00000374695	T	0.75938	-0.98	5.29	3.33	0.38152	.	0.000000	0.39083	N	0.001469	T	0.67268	0.2875	M	0.63843	1.955	0.22330	N	0.999195	B;B	0.16802	0.01;0.019	B;B	0.20577	0.03;0.025	T	0.54918	-0.8221	10	0.29301	T	0.29	.	7.5389	0.27727	0.0:0.7341:0.1656:0.1003	.	374;2434	Q59EG0;P98160	.;PGBM_HUMAN	R	2434	ENSP00000363827:G2434R	ENSP00000363827:G2434R	G	-	1	0	HSPG2	22049267	0.006000	0.16342	0.483000	0.27378	0.979000	0.70002	0.634000	0.24614	0.522000	0.28464	0.561000	0.74099	GGG		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22176680	C	T	22176680	3	4	6	1	0	0	0	0	1	0	0	0	7432	594	21	2	6039	2	HSPG2	1	22176680	Missense_Mutation	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10		22176680	227073941	1	496											
TAF12	6883	hgsc.bcm.edu	37	1	28948461	28948461	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr1:28948461C>T	ENST00000263974.4	-	2	567	c.133G>A	c.(133-135)Ggg>Agg	p.G45R	TAF12_ENST00000373824.4_Missense_Mutation_p.G45R	NM_001135218.1	NP_001128690.1	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa	45					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			ovary(1)|upper_aerodigestive_tract(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCTGCCCCAGGAGTGCCT	0.468																																																0													157	149	151					1																	28948461		2203	4300	6503	SO:0001583	missense	6883			BC011986	CCDS326.1	1p35	2008-02-05	2002-08-29	2001-12-07	ENSG00000120656	ENSG00000120656			11545	protein-coding gene	gene with protein product		600773	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD"	TAF2J		7729427	Standard	NM_005644		Approved	TAFII20	uc001bqy.3	Q16514	OTTHUMG00000003655	ENST00000263974.4:c.133G>A	chr1.hg19:g.28948461C>T	ENSP00000263974:p.Gly45Arg		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000263974.4	hg19	CCDS326.1	.	.	.	.	.	.	.	.	.	.	C	9.352	1.065712	0.20067	.	.	ENSG00000120656	ENST00000373824;ENST00000263974	.	.	.	5.17	5.17	0.71159	.	0.101675	0.64402	D	0.000002	T	0.45955	0.1368	L	0.32530	0.975	0.43724	D	0.996205	B;B	0.26512	0.126;0.151	B;B	0.32533	0.147;0.095	T	0.32666	-0.9898	9	0.13470	T	0.59	-5.9182	11.6763	0.51432	0.0:0.913:0.0:0.087	.	15;45	Q16514-2;Q16514	.;TAF12_HUMAN	R	45	.	ENSP00000263974:G45R	G	-	1	0	TAF12	28821048	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	3.514000	0.53422	2.405000	0.81733	0.591000	0.81541	GGG		0.468	TAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010367.1	NM_005644		T	28948461	C	T	28948461	3	4	6	1	0	0	0	0	1	0	0	0	15521	594	21	2	372	2	TAF12	1	28948461	Missense_Mutation	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10	6771781	28948461	220302160	2	497											
FPGT	8790	hgsc.bcm.edu	37	1	74671342	74671342	+	Silent	SNP	A	A	G			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr1:74671342A>G	ENST00000609362.1	+	4	1648	c.1611A>G	c.(1609-1611)tcA>tcG	p.S537S	FPGT_ENST00000370894.5_3'UTR|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000534056.1_Silent_p.S283S|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370898.3_Silent_p.S550S|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	537					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGAGTGACTCAGTTATAACAT	0.383																																																0													136	124	128					1																	74671342		2203	4300	6503	SO:0001819	synonymous_variant	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1611A>G	chr1.hg19:g.74671342A>G			A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	hg19	CCDS663.1																																																																																				0.383	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	74671342	A	G	74671342	2	3	6	1	0	0	0	0	0	0	0	1	6039	175	7	3		3	FPGT	1	74671342	Silent	SNP	A	TCGA-2Z-A9J6-01A-11D-A382-10	45722881	74671342	174579279	3	498											
CA14	23632	hgsc.bcm.edu	37	1	150235713	150235713	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr1:150235713G>C	ENST00000369111.4	+	8	1706	c.736G>C	c.(736-738)Ggg>Cgg	p.G246R	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	246					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	AAAGCTTCAGGGGACATTGTT	0.517																																																0													92	97	95					1																	150235713		2203	4300	6503	SO:0001583	missense	23632			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.736G>C	chr1.hg19:g.150235713G>C	ENSP00000358107:p.Gly246Arg		Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	hg19	CCDS947.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372423	0.42003	.	.	ENSG00000118298	ENST00000369111	T	0.65549	-0.16	5.46	3.56	0.40772	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.341654	0.31279	N	0.007932	T	0.13970	0.0338	N	0.01817	-0.705	0.24121	N	0.995806	B	0.18610	0.029	B	0.24701	0.055	T	0.22208	-1.0223	10	0.29301	T	0.29	.	7.2635	0.26217	0.089:0.1705:0.7405:0.0	.	246	Q9ULX7	CAH14_HUMAN	R	246	ENSP00000358107:G246R	ENSP00000358107:G246R	G	+	1	0	CA14	148502337	0.976000	0.34144	0.954000	0.39281	0.918000	0.54935	1.973000	0.40550	0.834000	0.34852	0.655000	0.94253	GGG		0.517	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		C	150235713	G	C	150235713	3	2	6	1	0	0	0	0	1	0	0	0	2517	1232	43	4	766	4	CA14	1	150235713	Missense_Mutation	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10	75564371	150235713	99014908	4	499											
RPRD2	23248	hgsc.bcm.edu	37	1	150437078	150437078	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr1:150437078C>A	ENST00000369068.4	+	10	1491	c.1487C>A	c.(1486-1488)cCt>cAt	p.P496H	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.P470H|RPRD2_ENST00000539519.1_Missense_Mutation_p.P470H	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	496	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTGAAAACACCTGCACCTGCC	0.547											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													73	92	86					1																	150437078		2064	4183	6247	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1487C>A	chr1.hg19:g.150437078C>A	ENSP00000358064:p.Pro496His	1732	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	hg19	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080155	0.76528	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.68479	-0.33;0.06;-0.24	5.34	4.42	0.53409	.	0.188129	0.45361	N	0.000370	T	0.53142	0.1778	M	0.61703	1.905	0.52099	D	0.999945	B;B;B	0.24368	0.005;0.062;0.102	B;B;B	0.24155	0.003;0.023;0.051	T	0.61535	-0.7043	10	0.87932	D	0	-12.2819	15.5276	0.75923	0.1392:0.8608:0.0:0.0	.	470;496;470	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	H	470;470;496	ENSP00000383785:P470H;ENSP00000445482:P470H;ENSP00000358064:P496H	ENSP00000358064:P496H	P	+	2	0	RPRD2	148703702	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.060000	0.76692	1.472000	0.48140	-0.182000	0.12963	CCT		0.547	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		A	150437078	C	A	150437078	3	1	6	1	0	0	0	0	1	0	0	0	13623	681	24	4	1525	4	RPRD2	1	150437078	Missense_Mutation	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10	201365	150437078	98813543	5	500											
KDM5B	10765	hgsc.bcm.edu	37	1	202724423	202724423	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr1:202724423C>T	ENST00000367265.3	-	11	2678	c.1514G>A	c.(1513-1515)aGc>aAc	p.S505N	KDM5B_ENST00000367264.2_Missense_Mutation_p.S541N|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	505	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AATTGAATAGCTCCAGTGGTC	0.403																																																0													113	113	113					1																	202724423		2203	4300	6503	SO:0001583	missense	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1514G>A	chr1.hg19:g.202724423C>T	ENSP00000356234:p.Ser505Asn		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	hg19	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	36	5.653576	0.96724	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.73152	-0.72;-0.72;-0.72	5.73	5.73	0.89815	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	M	0.69358	2.11	0.80722	D	1	D;D	0.63046	0.992;0.989	P;D	0.68039	0.798;0.955	D	0.84199	0.0449	10	0.87932	D	0	-17.7337	19.9036	0.96999	0.0:1.0:0.0:0.0	.	541;505	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	505;347;541;347	ENSP00000356234:S505N;ENSP00000356233:S541N;ENSP00000235790:S347N	ENSP00000235790:S347N	S	-	2	0	KDM5B	200991046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.706000	0.92434	0.655000	0.94253	AGC		0.403	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		T	202724423	C	T	202724423	3	4	6	1	0	0	0	0	1	0	0	0	8136	797	28	2	3188	2	KDM5B	1	202724423	Missense_Mutation	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10	52287345	202724423	46526198	6	501											
CGREF1	10669	hgsc.bcm.edu	37	2	27324436	27324436	+	Silent	SNP	G	G	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr2:27324436G>T	ENST00000260595.5	-	6	955	c.663C>A	c.(661-663)ccC>ccA	p.P221P	CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000402394.1_Silent_p.P221P|CGREF1_ENST00000312734.4_Silent_p.P221P|CGREF1_ENST00000405600.1_Silent_p.P221P|CGREF1_ENST00000404694.3_Silent_p.P343P			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	221					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCCCTCTGGGCCCTGGAA	0.652																																																0													113	133	126					2																	27324436		2203	4300	6503	SO:0001819	synonymous_variant	10669			BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.663C>A	chr2.hg19:g.27324436G>T			A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Silent	SNP	ENST00000260595.5	hg19																																																																																					0.652	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		T	27324436	G	T	27324436	2	4	6	1	0	0	0	0	0	0	0	1	3307	1335	47	4		4	CGREF1	2	27324436	Silent	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10		27324436	215874937	7	502											
C2orf78	388960	hgsc.bcm.edu	37	2	74043789	74043789	+	Silent	SNP	A	A	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr2:74043789A>T	ENST00000409561.1	+	3	2560	c.2439A>T	c.(2437-2439)tcA>tcT	p.S813S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	813										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CTAGGCCATCAGCCTACAAAA	0.522																																																0													71	69	70					2																	74043789		2020	4178	6198	SO:0001819	synonymous_variant	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2439A>T	chr2.hg19:g.74043789A>T				Silent	SNP	ENST00000409561.1	hg19	CCDS46338.1																																																																																				0.522	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		T	74043789	A	T	74043789	2	4	6	1	0	0	0	0	0	0	0	1	2197	175	7	5		5	C2orf78	2	74043789	Silent	SNP	A	TCGA-2Z-A9J6-01A-11D-A382-10	46719353	74043789	169155584	8	503											
TGOLN2	10618	hgsc.bcm.edu	37	2	85553951	85553951	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr2:85553951delT	ENST00000409232.3	-	2	965	c.904delA	c.(904-906)actfs	p.T302fs	TGOLN2_ENST00000409015.1_Frame_Shift_Del_p.T302fs|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Intron|TGOLN2_ENST00000377386.3_Frame_Shift_Del_p.T302fs|TGOLN2_ENST00000444342.2_Frame_Shift_Del_p.T302fs			O43493	TGON2_HUMAN	trans-golgi network protein 2	302						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											ATGAGGTCAGTTTCCTCCCCA	0.512																																																0													56	52	53					2																	85553951		1901	4128	6029	SO:0001589	frameshift_variant	10618			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.904delA	chr2.hg19:g.85553951delT	ENSP00000386443:p.Thr302fs		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Frame_Shift_Del	DEL	ENST00000409232.3	hg19	CCDS56126.1																																																																																				0.512	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		-	85553951	T	-	85553951	7	5	6	1	0	1	0	1	0	0	0	0	15841	1725	60	0	421	0	TGOLN2	2	85553951	Frame_Shift_Del	DEL	T	TCGA-2Z-A9J6-01A-11D-A382-10	11510162	85553951	157645422	9	504											
PKP4	8502	hgsc.bcm.edu	37	2	159477605	159477605	+	Silent	SNP	A	A	G			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr2:159477605A>G	ENST00000389759.3	+	5	496	c.384A>G	c.(382-384)ccA>ccG	p.P128P	PKP4_ENST00000389757.3_Silent_p.P128P	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	128					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TCTATTCACCAGAACAGACAT	0.423										HNSCC(62;0.18)																																						0													110	98	102					2																	159477605		2203	4300	6503	SO:0001819	synonymous_variant	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.384A>G	chr2.hg19:g.159477605A>G			Q86W91	Silent	SNP	ENST00000389759.3	hg19	CCDS33305.1																																																																																				0.423	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			G	159477605	A	G	159477605	2	3	6	1	0	0	0	0	0	0	0	1	11989	175	7	3		3	PKP4	2	159477605	Silent	SNP	A	TCGA-2Z-A9J6-01A-11D-A382-10	73923654	159477605	83721768	10	505											
HSPE1	3336	hgsc.bcm.edu	37	2	198367837	198367837	+	Silent	SNP	A	A	G			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr2:198367837A>G	ENST00000233893.5	+	3	686	c.243A>G	c.(241-243)gtA>gtG	p.V81V	HSPE1_ENST00000465573.1_3'UTR|HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409468.1_Silent_p.V81V|HSPE1_ENST00000409729.1_Silent_p.V26V|HSPD1_ENST00000345042.2_5'Flank	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	81					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			GCACCAAAGTAGTTCTAGATG	0.343																																																0													148	159	155					2																	198367837		2203	4300	6503	SO:0001819	synonymous_variant	3336			AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"Heat Shock Proteins / Chaperonins"	5269	protein-coding gene	gene with protein product	"chaperonin 10"	600141	"heat shock 10kD protein 1 (chaperonin 10)"			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.243A>G	chr2.hg19:g.198367837A>G			O95421|Q04984|Q53X54|Q9UDH0	Silent	SNP	ENST00000233893.5	hg19	CCDS2320.1																																																																																				0.343	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		G	198367837	A	G	198367837	2	3	6	1	0	0	0	0	0	0	0	1	7431	407	15	3		3	HSPE1	2	198367837	Silent	SNP	A	TCGA-2Z-A9J6-01A-11D-A382-10	38890232	198367837	44831536	11	506											
CD200R1	131450	hgsc.bcm.edu	37	3	112648333	112648333	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr3:112648333T>G	ENST00000471858.1	-	3	387	c.155A>C	c.(154-156)aAg>aCg	p.K52T	CD200R1_ENST00000440122.2_Missense_Mutation_p.K75T|CD200R1_ENST00000490004.1_Missense_Mutation_p.K52T|CD200R1_ENST00000295863.4_Missense_Mutation_p.K30T|CD200R1_ENST00000308611.3_Missense_Mutation_p.K75T	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	52					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGTAGCCATCTTTACAGGCCA	0.373																																																0													76	73	74					3																	112648333		2203	4300	6503	SO:0001583	missense	131450			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.155A>C	chr3.hg19:g.112648333T>G	ENSP00000418928:p.Lys52Thr		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	hg19	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	T	6.153	0.396370	0.11638	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0	5.5	-11.0	0.00169	Immunoglobulin subtype (1);	2.986180	0.00757	N	0.001111	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0	T	0.21484	-1.0244	10	0.25751	T	0.34	.	6.6183	0.22788	0.2992:0.0:0.3016:0.3992	.	30;52;75;52;75	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	T	52;75;30;75;52	ENSP00000418928:K52T;ENSP00000311035:K75T;ENSP00000295863:K30T;ENSP00000405733:K75T;ENSP00000418801:K52T	ENSP00000295863:K30T	K	-	2	0	CD200R1	114131023	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.518000	0.02246	-2.599000	0.00452	-2.119000	0.00349	AAG		0.373	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		G	112648333	T	G	112648333	3	3	6	1	0	0	0	0	1	0	0	0	2983	1609	56	5	889	5	CD200R1	3	112648333	Missense_Mutation	SNP	T	TCGA-2Z-A9J6-01A-11D-A382-10		112648333	85374097	12	507											
IGSF10	285313	hgsc.bcm.edu	37	3	151155418	151155418	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr3:151155418A>T	ENST00000282466.3	-	6	6930	c.6931T>A	c.(6931-6933)Ttt>Att	p.F2311I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2311	Ig-like C2-type 9.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACACAGATAAAGTCGGCTGAA	0.418																																																0													138	133	135					3																	151155418		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6931T>A	chr3.hg19:g.151155418A>T	ENSP00000282466:p.Phe2311Ile		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	hg19	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468341	0.84533	.	.	ENSG00000152580	ENST00000282466	T	0.28454	1.61	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000161	T	0.53061	0.1773	M	0.64676	1.99	0.80722	D	1	D;D	0.69078	0.997;0.964	D;P	0.69654	0.965;0.841	T	0.55604	-0.8115	10	0.87932	D	0	.	16.084	0.81025	1.0:0.0:0.0:0.0	.	2311;338	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	I	2311	ENSP00000282466:F2311I	ENSP00000282466:F2311I	F	-	1	0	IGSF10	152638108	1.000000	0.71417	0.040000	0.18447	0.970000	0.65996	8.904000	0.92590	2.202000	0.70862	0.482000	0.46254	TTT		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151155418	A	T	151155418	3	4	6	1	0	0	0	0	1	0	0	0	7599	72	3	5	944	5	IGSF10	3	151155418	Missense_Mutation	SNP	A	TCGA-2Z-A9J6-01A-11D-A382-10	38507085	151155418	46867012	13	508											
PHC3	80012	hgsc.bcm.edu	37	3	169896600	169896600	+	Missense_Mutation	SNP	C	C	A	rs375674359		TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr3:169896600C>A	ENST00000494943.1	-	2	173	c.105G>T	c.(103-105)caG>caT	p.Q35H	PHC3_ENST00000467570.1_Missense_Mutation_p.Q47H|PHC3_ENST00000474275.1_Missense_Mutation_p.Q35H|PHC3_ENST00000495893.2_Missense_Mutation_p.Q47H|PHC3_ENST00000481639.1_Missense_Mutation_p.Q47H|PHC3_ENST00000497658.1_Missense_Mutation_p.Q47H			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	35					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGACAGAGATCTGTGGCTGCT	0.458																																																0								C	HIS/GLN	1,4131		0,1,2065	247	248	248		141	5.2	1	3		248	0,8456		0,0,4228	no	missense	PHC3	NM_024947.3	24	0,1,6293	AA,AC,CC		0.0,0.0242,0.0079	benign	47/996	169896600	1,12587	2066	4228	6294	SO:0001583	missense	80012				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.105G>T	chr3.hg19:g.169896600C>A	ENSP00000420271:p.Gln35His		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.0	4.364917	0.82463	2.42E-4	0.0	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931;ENST00000466189;ENST00000475729;ENST00000474275;ENST00000465896;ENST00000497658;ENST00000481639	T;T	0.39592	1.07;1.08	6.03	5.15	0.70609	.	0.098560	0.46145	D	0.000311	T	0.58032	0.2094	L	0.54323	1.7	0.40012	D	0.975309	D;D;D;D;D;D;D;D	0.64830	0.994;0.994;0.98;0.994;0.994;0.994;0.994;0.988	D;D;D;D;D;P;D;D	0.78314	0.986;0.991;0.965;0.986;0.991;0.805;0.986;0.984	T	0.54200	-0.8329	9	.	.	.	-6.4983	13.908	0.63848	0.0:0.9291:0.0:0.0709	.	47;47;35;47;47;35;47;47	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-5;G5E9U7;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	.;.;PHC3_HUMAN;.;.;.;.;.	H	35;47;47;47;47;47;35;47;47;47	ENSP00000420271:Q35H;ENSP00000420294:Q47H	.	Q	-	3	2	PHC3	171379294	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.462000	0.35266	2.861000	0.98227	0.655000	0.94253	CAG		0.458	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		A	169896600	C	A	169896600	3	1	6	1	0	0	0	0	1	0	0	0	11820	912	32	4	2902	4	PHC3	3	169896600	Missense_Mutation	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10	18741182	169896600	28125830	14	509											
SLC6A19	340024	hgsc.bcm.edu	37	5	1221280	1221280	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr5:1221280T>C	ENST00000304460.10	+	11	1609	c.1553T>C	c.(1552-1554)aTc>aCc	p.I518T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	518					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AATAAGGACATCGAGTTCATG	0.542																																																0													124	92	103					5																	1221280		2203	4300	6503	SO:0001583	missense	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1553T>C	chr5.hg19:g.1221280T>C	ENSP00000305302:p.Ile518Thr		A8K446	Missense_Mutation	SNP	ENST00000304460.10	hg19	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737729	0.69304	.	.	ENSG00000174358	ENST00000304460	T	0.79033	-1.23	4.81	4.81	0.61882	.	0.107611	0.64402	D	0.000006	D	0.87916	0.6298	M	0.92367	3.3	0.51012	D	0.9999	P	0.50528	0.936	P	0.54174	0.744	D	0.90994	0.4837	10	0.87932	D	0	.	14.3786	0.66897	0.0:0.0:0.0:1.0	.	518	Q695T7	S6A19_HUMAN	T	518	ENSP00000305302:I518T	ENSP00000305302:I518T	I	+	2	0	SLC6A19	1274280	1.000000	0.71417	0.978000	0.43139	0.517000	0.34286	7.825000	0.86693	1.808000	0.52836	0.402000	0.26972	ATC		0.542	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		C	1221280	T	C	1221280	3	2	6	1	0	0	0	0	1	0	0	0	14688	1435	50	3	1595	3	SLC6A19	5	1221280	Missense_Mutation	SNP	T	TCGA-2Z-A9J6-01A-11D-A382-10		1221280	179693980	15	510											
ADAMTS6	11174	hgsc.bcm.edu	37	5	64755996	64755996	+	Splice_Site	SNP	C	C	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr5:64755996C>T	ENST00000536360.1	-	4	1445		c.e4+1					Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CACTCACTCACCCGAAACCCC	0.398																																																0													136	131	132					5																	64755996		2203	4300	6503	SO:0001630	splice_region_variant	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.631+1G>A	chr5.hg19:g.64755996C>T			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Splice_Site	SNP	ENST00000536360.1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.65	3.442004	0.63067	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS6	64791752	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	7.353000	0.79414	2.880000	0.98712	0.650000	0.86243	.		0.398	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941	Intron	T	64755996	C	T	64755996	5	4	6	1	0	0	0	0	0	0	1	0	270	521	18	2	2809	2	ADAMTS6	5	64755996	Splice_Site	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10	63534716	64755996	116159264	16	511											
ST7	7982	hgsc.bcm.edu	37	7	116770588	116770588	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr7:116770588delA	ENST00000393446.2	+	5	796	c.493delA	c.(493-495)atgfs	p.M165fs	ST7_ENST00000393451.3_Frame_Shift_Del_p.M165fs|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000393449.1_Frame_Shift_Del_p.M165fs|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000323984.3_Frame_Shift_Del_p.M165fs|ST7_ENST00000465133.1_Frame_Shift_Del_p.M122fs|ST7_ENST00000393444.3_Frame_Shift_Del_p.M122fs|ST7-AS2_ENST00000442719.1_RNA|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000432298.1_Frame_Shift_Del_p.M119fs|ST7_ENST00000265437.5_Frame_Shift_Del_p.M165fs|ST7_ENST00000393443.1_Frame_Shift_Del_p.M115fs|ST7_ENST00000422922.1_Frame_Shift_Del_p.M119fs|ST7_ENST00000393447.4_Frame_Shift_Del_p.M122fs			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTACTATGACATGAATCTCTC	0.428																																																0													171	168	169					7																	116770588		2203	4299	6502	SO:0001589	frameshift_variant	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.493delA	chr7.hg19:g.116770588delA	ENSP00000377092:p.Met165fs		A8K137|B4DRQ2	Frame_Shift_Del	DEL	ENST00000393446.2	hg19																																																																																					0.428	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		-	116770588	A	-	116770588	7	5	6	1	0	1	0	1	0	0	0	0	15234	217	8	0	511	0	ST7	7	116770588	Frame_Shift_Del	DEL	A	TCGA-2Z-A9J6-01A-11D-A382-10		116770588	42368075	17	512											
PIP	5304	hgsc.bcm.edu	37	7	142832288	142832288	+	Splice_Site	SNP	C	C	T	rs376369577		TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr7:142832288C>T	ENST00000291009.3	+	2	137	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	33					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CACAATCAGTCGGAAGATCAT	0.463																																																0								C	TRP/ARG	0,4406		0,0,2203	52	47	49		97	0	0	7		49	1,8597	1.2+/-3.3	0,1,4298	no	missense-near-splice	PIP	NM_002652.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	33/147	142832288	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	5304				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.96-1C>T	chr7.hg19:g.142832288C>T			A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	hg19	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	C	8.675	0.903680	0.17760	0.0	1.16E-4	ENSG00000159763	ENST00000291009	T	0.14640	2.49	4.2	0.0331	0.14178	.	0.625933	0.12805	N	0.437679	T	0.08980	0.0222	L	0.39397	1.21	0.09310	N	1	B	0.21452	0.056	B	0.15052	0.012	T	0.32877	-0.9890	10	0.51188	T	0.08	.	1.421	0.02312	0.172:0.4618:0.1673:0.1989	.	33	P12273	PIP_HUMAN	W	33	ENSP00000291009:R33W	ENSP00000291009:R33W	R	+	1	2	PIP	142542410	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.057000	0.14279	-0.096000	0.12329	-0.535000	0.04281	CGG		0.463	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652	Missense_Mutation	T	142832288	C	T	142832288	5	4	6	1	0	0	0	0	0	0	1	0	11937	898	31	1	103	1	PIP	7	142832288	Splice_Site	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10	26061700	142832288	16306375	18	513											
GSTK1	373156	hgsc.bcm.edu	37	7	142961758	142961758	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr7:142961758T>A	ENST00000358406.5	+	3	343	c.272T>A	c.(271-273)aTg>aAg	p.M91K	GSTK1_ENST00000443571.2_Intron|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000479303.1_Missense_Mutation_p.M91K|GSTK1_ENST00000409500.3_Missense_Mutation_p.M91K	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	91					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	TTGTCTGTGATGCTTGAAAAA	0.488																																																0													171	176	175					7																	142961758		2203	4300	6503	SO:0001583	missense	373156				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"Glutathione S-transferases / Mitochondrial (kappa)"	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.272T>A	chr7.hg19:g.142961758T>A	ENSP00000351181:p.Met91Lys		B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	hg19	CCDS5877.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234674	0.39498	.	.	ENSG00000197448	ENST00000436038;ENST00000409500;ENST00000358406;ENST00000479303	.	.	.	5.76	3.38	0.38709	DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.436900	0.29383	N	0.012301	T	0.31295	0.0792	L	0.42245	1.32	0.09310	N	1	B;B;B	0.33583	0.003;0.418;0.151	B;B;B	0.40134	0.014;0.32;0.155	T	0.27673	-1.0067	9	0.05833	T	0.94	-6.0991	6.2182	0.20667	0.1428:0.0781:0.0:0.7791	.	91;91;91	Q9Y2Q3-3;Q9Y2Q3-2;Q9Y2Q3	.;.;GSTK1_HUMAN	K	81;91;91;91	.	ENSP00000351181:M91K	M	+	2	0	GSTK1	142671880	0.012000	0.17670	0.000000	0.03702	0.043000	0.13939	2.071000	0.41500	0.449000	0.26747	0.529000	0.55759	ATG		0.488	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		A	142961758	T	A	142961758	3	1	6	1	0	0	0	0	1	0	0	0	6838	1464	51	5	282	5	GSTK1	7	142961758	Missense_Mutation	SNP	T	TCGA-2Z-A9J6-01A-11D-A382-10	129470	142961758	16176905	19	514											
CHD7	55636	hgsc.bcm.edu	37	8	61707584	61707584	+	Silent	SNP	A	A	G			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr8:61707584A>G	ENST00000423902.2	+	4	2615	c.2136A>G	c.(2134-2136)aaA>aaG	p.K712K	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Silent_p.K712K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	712	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTTTGAAGAAAAAGGTCAACA	0.403																																																1	Insertion - In frame(1)	lung(1)											78	79	78					8																	61707584		1823	4071	5894	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2136A>G	chr8.hg19:g.61707584A>G			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	hg19	CCDS47865.1																																																																																				0.403	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		G	61707584	A	G	61707584	2	3	6	1	0	0	0	0	0	0	0	1	3332	11	1	3		3	CHD7	8	61707584	Silent	SNP	A	TCGA-2Z-A9J6-01A-11D-A382-10		61707584	84656438	20	515											
VCPIP1	80124	hgsc.bcm.edu	37	8	67576667	67576667	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr8:67576667C>A	ENST00000310421.4	-	1	2785	c.2527G>T	c.(2527-2529)Ggc>Tgc	p.G843C		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	843					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATTCTGTCGCCATGCTGTAAA	0.428																																					NSCLC(179;265 2915 6144 43644)											0													108	111	110					8																	67576667		2203	4300	6503	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2527G>T	chr8.hg19:g.67576667C>A	ENSP00000309031:p.Gly843Cys		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	hg19	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576700	0.86645	.	.	ENSG00000175073	ENST00000310421	T	0.69806	-0.43	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.83142	0.5190	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84857	0.0817	10	0.87932	D	0	-12.7363	19.4386	0.94807	0.0:1.0:0.0:0.0	.	843	Q96JH7	VCIP1_HUMAN	C	843	ENSP00000309031:G843C	ENSP00000309031:G843C	G	-	1	0	VCPIP1	67739221	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.456000	0.80751	2.578000	0.87016	0.655000	0.94253	GGC		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			A	67576667	C	A	67576667	3	1	6	1	0	0	0	0	1	0	0	0	17146	594	21	4	1153	4	VCPIP1	8	67576667	Missense_Mutation	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10	5869083	67576667	78787355	21	516											
USP20	10868	hgsc.bcm.edu	37	9	132625464	132625464	+	Splice_Site	SNP	G	G	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr9:132625464G>T	ENST00000315480.4	+	9	655		c.e9-1		USP20_ENST00000358355.1_Splice_Site|USP20_ENST00000372429.3_Splice_Site			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20						endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCTGCACCCAGCCCGCCGCTG	0.607																																																0													13	15	15					9																	132625464		1952	3941	5893	SO:0001630	splice_region_variant	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.498-1G>T	chr9.hg19:g.132625464G>T			Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Splice_Site	SNP	ENST00000315480.4	hg19	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408788	0.42715	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7287	0.91726	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP20	131665285	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.781000	0.99029	2.655000	0.90218	0.655000	0.94253	.		0.607	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		Intron	T	132625464	G	T	132625464	5	4	6	1	0	0	0	0	0	0	1	0	17057	985	34	4	523	4	USP20	9	132625464	Splice_Site	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10		132625464	8587967	22	517											
CUBN	8029	hgsc.bcm.edu	37	10	17164868	17164868	+	Silent	SNP	T	T	C			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr10:17164868T>C	ENST00000377833.4	-	6	584	c.519A>G	c.(517-519)gaA>gaG	p.E173E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	173	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAATCTCACATTCGTTAACAT	0.413																																																0													85	73	77					10																	17164868		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.519A>G	chr10.hg19:g.17164868T>C			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	hg19	CCDS7113.1																																																																																				0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	17164868	T	C	17164868	2	2	6	1	0	0	0	0	0	0	0	1	4053	1490	52	3		3	CUBN	10	17164868	Silent	SNP	T	TCGA-2Z-A9J6-01A-11D-A382-10		17164868	118369879	23	518											
CTBP2	1488	hgsc.bcm.edu	37	10	126715159	126715159	+	Intron	SNP	A	A	G	rs529129641|rs372118432	byFrequency	TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr10:126715159A>G	ENST00000337195.5	-	3	458				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000309035.6_Silent_p.A390A|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TCTGCAGAGGAGCCGCAGCGC	0.701																																																0													9	7	8					10																	126715159		2126	4169	6295	SO:0001627	intron_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12406T>C	chr10.hg19:g.126715159A>G			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	hg19	CCDS7643.1																																																																																				0.701	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		G	126715159	A	G	126715159	1	3	6	0	1	0	0	0	0	0	0	0	4000	291	11	3		3	CTBP2	10	126715159	Intron	SNP	A	TCGA-2Z-A9J6-01A-11D-A382-10	109550291	126715159	8819588	24	519											
METT5D1	196074	hgsc.bcm.edu	37	11	28311807	28311807	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr11:28311807G>T	ENST00000407364.3	+	5	814	c.462G>T	c.(460-462)atG>atT	p.M154I	METTL15_ENST00000342303.5_Missense_Mutation_p.M154I|METTL15_ENST00000303459.6_Missense_Mutation_p.M154I|METTL15_ENST00000406787.3_Missense_Mutation_p.M154I			A6NJ78	MET15_HUMAN	methyltransferase like 15	154							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						CCTTATTAATGAAAGCTGGAG	0.448																																																0													49	50	49					11																	28311807		2202	4296	6498	SO:0001583	missense	196074			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.462G>T	chr11.hg19:g.28311807G>T	ENSP00000384369:p.Met154Ile		A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	hg19	CCDS44559.1	.	.	.	.	.	.	.	.	.	.	G	6.896	0.534856	0.13188	.	.	ENSG00000169519	ENST00000406787;ENST00000342303;ENST00000407364;ENST00000303459	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.88	1.95	0.26073	.	0.738697	0.14439	N	0.319525	T	0.19046	0.0457	L	0.31926	0.97	0.09310	N	0.999999	B;B;B	0.19331	0.0;0.001;0.035	B;B;B	0.15484	0.0;0.001;0.013	T	0.24404	-1.0161	9	.	.	.	.	5.2287	0.15410	0.2941:0.279:0.4269:0.0	.	154;154;154	A6NJ78;A6NJ78-2;A6NJ78-4	MET15_HUMAN;.;.	I	154	ENSP00000385507:M154I;ENSP00000342259:M154I;ENSP00000384369:M154I;ENSP00000307251:M154I	.	M	+	3	0	METTL15	28268383	0.001000	0.12720	0.988000	0.46212	0.444000	0.32077	-0.076000	0.11412	0.115000	0.18071	0.655000	0.94253	ATG		0.448	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		T	28311807	G	T	28311807	3	4	6	1	0	0	0	0	1	0	0	0	9494	1290	45	4	472	4	METT5D1	11	28311807	Missense_Mutation	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10		28311807	106694709	25	520											
CDC42BPG	55561	hgsc.bcm.edu	37	11	64594522	64594522	+	Splice_Site	SNP	C	C	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr11:64594522C>T	ENST00000342711.5	-	34	4388	c.4389G>A	c.(4387-4389)ccG>ccA	p.P1463P		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GAGGACTAACCGGGGACTTGT	0.597																																																0													43	46	45					11																	64594522		2201	4297	6498	SO:0001630	splice_region_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4389+1G>A	chr11.hg19:g.64594522C>T				Silent	SNP	ENST00000342711.5	hg19	CCDS31601.1																																																																																				0.597	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516	Silent	T	64594522	C	T	64594522	5	4	6	1	0	0	0	0	0	0	1	0	3076	666	23	1	282	1	CDC42BPG	11	64594522	Splice_Site	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10	36282715	64594522	70411994	26	521											
TM7SF2	7108	hgsc.bcm.edu	37	11	64882278	64882278	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr11:64882278T>A	ENST00000279263.7	+	6	859	c.697T>A	c.(697-699)Tac>Aac	p.Y233N	AP003068.12_ENST00000527789.1_RNA|TM7SF2_ENST00000540748.1_Missense_Mutation_p.Y117N|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.Y233N	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	233					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGTTGCTCTACGTGGGTGA	0.607																																																0													96	113	108					11																	64882278		2162	4249	6411	SO:0001583	missense	7108			BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.697T>A	chr11.hg19:g.64882278T>A	ENSP00000279263:p.Tyr233Asn		A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	hg19	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647237	0.87958	.	.	ENSG00000149809	ENST00000526809;ENST00000279263;ENST00000524986;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000531321;ENST00000526085;ENST00000527968	D;D;D;D;D;D;D;D;D;D	0.99270	-5.66;-5.66;-5.66;-5.66;-5.66;-5.66;-5.66;-5.66;-5.66;-5.66	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	H	0.98155	4.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.97633	1.0143	10	0.87932	D	0	-4.6127	13.1215	0.59329	0.0:0.0:0.0:1.0	.	117;233;233	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	N	115;233;204;165;117;204;233;139;84;65	ENSP00000432171:Y115N;ENSP00000279263:Y233N;ENSP00000435972:Y204N;ENSP00000432187:Y165N;ENSP00000441215:Y117N;ENSP00000433325:Y204N;ENSP00000329520:Y233N;ENSP00000431300:Y139N;ENSP00000434447:Y84N;ENSP00000431685:Y65N	ENSP00000279263:Y233N	Y	+	1	0	TM7SF2	64638854	1.000000	0.71417	0.982000	0.44146	0.983000	0.72400	7.466000	0.80914	2.200000	0.70718	0.459000	0.35465	TAC		0.607	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		A	64882278	T	A	64882278	3	1	6	1	0	0	0	0	1	0	0	0	15979	1522	53	5	719	5	TM7SF2	11	64882278	Missense_Mutation	SNP	T	TCGA-2Z-A9J6-01A-11D-A382-10	287756	64882278	70124238	27	522											
C11orf30	56946	hgsc.bcm.edu	37	11	76255546	76255546	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr11:76255546G>A	ENST00000529032.1	+	18	2953	c.2953G>A	c.(2953-2955)Gac>Aac	p.D985N	C11orf30_ENST00000334736.3_Missense_Mutation_p.D985N|C11orf30_ENST00000343878.3_Missense_Mutation_p.D985N|C11orf30_ENST00000524490.1_Missense_Mutation_p.D887N|C11orf30_ENST00000533248.1_Missense_Mutation_p.D894N|C11orf30_ENST00000524767.1_Missense_Mutation_p.D1000N|C11orf30_ENST00000525919.1_Missense_Mutation_p.D986N|C11orf30_ENST00000525038.1_Missense_Mutation_p.D986N			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	985	Gln-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCTGCAGGCAGACCAGCTCCA	0.542																																																0													106	107	107					11																	76255546		2200	4292	6492	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2953G>A	chr11.hg19:g.76255546G>A	ENSP00000432327:p.Asp985Asn		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	hg19	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.829846	0.50845	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000532719	.	.	.	5.92	5.92	0.95590	.	0.269805	0.41938	D	0.000786	T	0.58163	0.2103	N	0.19112	0.55	0.38630	D	0.951348	D;B;B;B;B;B;B	0.59357	0.985;0.148;0.148;0.144;0.023;0.148;0.023	P;B;B;B;B;B;B	0.55508	0.777;0.056;0.056;0.056;0.01;0.056;0.01	T	0.53781	-0.8390	9	0.20519	T	0.43	-1.593	20.3081	0.98638	0.0:0.0:1.0:0.0	.	894;986;1000;339;986;887;985	B7ZKT8;B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	N	887;985;985;667;1000;894;986;986;985;125	.	ENSP00000334130:D985N	D	+	1	0	C11orf30	75933194	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.155000	0.71833	2.795000	0.96236	0.655000	0.94253	GAC		0.542	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		A	76255546	G	A	76255546	3	1	6	1	0	0	0	0	1	0	0	0	1638	942	33	2	3023	2	C11orf30	11	76255546	Missense_Mutation	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10	11373268	76255546	58750970	28	523											
HDAC7	51564	hgsc.bcm.edu	37	12	48179627	48179627	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr12:48179627C>T	ENST00000427332.2	-	23	2653	c.2497G>A	c.(2497-2499)Ggc>Agc	p.G833S	AC004466.1_ENST00000599515.1_3'UTR|HDAC7_ENST00000354334.3_Missense_Mutation_p.G835S|HDAC7_ENST00000080059.7_Missense_Mutation_p.G872S|HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000552960.1_Missense_Mutation_p.G855S|HDAC7_ENST00000380610.4_Missense_Mutation_p.G889S			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	833	Histone deacetylase.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		ACCACTGCGCCTCCTGCCAGG	0.602																																																0													49	40	43					12																	48179627		2203	4300	6503	SO:0001583	missense	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.2497G>A	chr12.hg19:g.48179627C>T	ENSP00000404394:p.Gly833Ser		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	hg19		.	.	.	.	.	.	.	.	.	.	C	32	5.175569	0.94807	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	4.78	4.78	0.61160	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.78916	2.43	0.80722	D	1	P;P;B;D	0.71674	0.489;0.784;0.433;0.998	B;P;B;D	0.67900	0.368;0.84;0.353;0.954	D	0.84350	0.0532	10	0.87932	D	0	.	16.8244	0.85927	0.0:1.0:0.0:0.0	.	833;872;855;835	Q8WUI4;Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	HDAC7_HUMAN;.;.;.	S	872;835;855;889;833	ENSP00000080059:G872S;ENSP00000351326:G835S;ENSP00000448532:G855S;ENSP00000369984:G889S;ENSP00000404394:G833S	ENSP00000080059:G872S	G	-	1	0	HDAC7	46465894	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	7.742000	0.85008	2.407000	0.81776	0.543000	0.68304	GGC		0.602	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			T	48179627	C	T	48179627	3	4	6	1	0	0	0	0	1	0	0	0	7014	681	24	2	377	2	HDAC7	12	48179627	Missense_Mutation	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10		48179627	85672268	29	524											
CCDC64	92558	hgsc.bcm.edu	37	12	120427989	120427991	+	In_Frame_Del	DEL	AGG	AGG	-	rs560592174		TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr12:120427989_120427991delAGG	ENST00000397558.2	+	1	317_319	c.317_319delAGG	c.(316-321)aaggag>aag	p.E107del		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	107					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCCGACAGAAGGAGAAGGATCT	0.67																																																0																																										SO:0001651	inframe_deletion	92558			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.317_319delAGG	chr12.hg19:g.120427989_120427991delAGG	ENSP00000380690:p.Glu107del		A8MUC8|B4DWL0|B5MDJ0|O95000	In_Frame_Del	DEL	ENST00000397558.2	hg19	CCDS41845.1																																																																																				0.67	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		-	120427991	AGG	-	120427989	7	5	6	1	0	1	0	1	0	0	0	0	2837	72	3	0	319	0	CCDC64	12	120427989	In_Frame_Del	DEL	AGG	TCGA-2Z-A9J6-01A-11D-A382-10	72248362	120427989	13423906	30	525											
ZNF219	51222	hgsc.bcm.edu	37	14	21560330	21560330	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr14:21560330G>A	ENST00000360947.3	-	3	1537	c.1126C>T	c.(1126-1128)Ccg>Tcg	p.P376S	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Missense_Mutation_p.P376S|ZNF219_ENST00000421093.2_Missense_Mutation_p.P376S|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	376					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AAGAGGCTCGGGGGCTCACGG	0.761																																																0													1	1	1					14																	21560330		1016	2266	3282	SO:0001583	missense	51222			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.1126C>T	chr14.hg19:g.21560330G>A	ENSP00000354206:p.Pro376Ser		D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	ENST00000360947.3	hg19	CCDS9568.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.445264	0.25987	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093	T;T;T	0.06294	3.32;3.32;3.32	4.67	3.77	0.43336	.	0.153084	0.43110	D	0.000614	T	0.04543	0.0124	N	0.24115	0.695	0.35849	D	0.826595	B	0.24186	0.099	B	0.19391	0.025	T	0.40572	-0.9556	10	0.20046	T	0.44	-14.7276	10.523	0.44931	0.0:0.2258:0.7742:0.0	.	376	Q9P2Y4	ZN219_HUMAN	S	376	ENSP00000354206:P376S;ENSP00000388558:P376S;ENSP00000392401:P376S	ENSP00000354206:P376S	P	-	1	0	ZNF219	20630170	.	.	0.977000	0.42913	0.987000	0.75469	.	.	1.152000	0.42452	0.563000	0.77884	CCG		0.761	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			A	21560330	G	A	21560330	3	1	6	1	0	0	0	0	1	0	0	0	17778	1232	43	2	1054	2	ZNF219	14	21560330	Missense_Mutation	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10		21560330	85789210	31	526											
UBE3A	7337	hgsc.bcm.edu	37	15	25616263	25616263	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr15:25616263A>T	ENST00000397954.2	-	4	1066	c.1067T>A	c.(1066-1068)tTt>tAt	p.F356Y	UBE3A_ENST00000566215.1_Missense_Mutation_p.F333Y|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000232165.3_Missense_Mutation_p.F353Y|UBE3A_ENST00000428984.2_Missense_Mutation_p.F333Y|UBE3A_ENST00000438097.1_Missense_Mutation_p.F333Y			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	356					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TCGACTGTTAAATTCATTGCT	0.383																																																0													108	104	105					15																	25616263		2203	4300	6503	SO:0001583	missense	7337			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1067T>A	chr15.hg19:g.25616263A>T	ENSP00000381045:p.Phe356Tyr		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	hg19	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	A	9.469	1.095036	0.20471	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	N	0.11560	0.145	0.58432	D	0.999999	B;B	0.15141	0.012;0.004	B;B	0.15484	0.013;0.009	T	0.08911	-1.0699	10	0.02654	T	1	.	16.0417	0.80687	1.0:0.0:0.0:0.0	.	353;356	Q05086-3;Q05086	.;UBE3A_HUMAN	Y	353;353;356;333;333	ENSP00000232165:F353Y;ENSP00000381045:F356Y;ENSP00000411258:F333Y;ENSP00000401265:F333Y	ENSP00000232165:F353Y	F	-	2	0	UBE3A	23167356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.135000	0.77276	2.198000	0.70561	0.482000	0.46254	TTT		0.383	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		T	25616263	A	T	25616263	3	4	6	1	0	0	0	0	1	0	0	0	16884	14	1	5	1592	5	UBE3A	15	25616263	Missense_Mutation	SNP	A	TCGA-2Z-A9J6-01A-11D-A382-10		25616263	76915129	32	527											
LTK	4058	hgsc.bcm.edu	37	15	41797613	41797613	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr15:41797613T>C	ENST00000263800.6	-	14	1909	c.1813A>G	c.(1813-1815)Agt>Ggt	p.S605G	LTK_ENST00000355166.5_Missense_Mutation_p.S544G|LTK_ENST00000561619.1_Missense_Mutation_p.S303G|LTK_ENST00000453182.2_Missense_Mutation_p.S475G	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	605	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGTGGCCGACTGTGCCTCAGG	0.597										TSP Lung(18;0.14)																																						0													56	62	60					15																	41797613		2203	4300	6503	SO:0001583	missense	4058			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1813A>G	chr15.hg19:g.41797613T>C	ENSP00000263800:p.Ser605Gly		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	hg19	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.017279	0.35606	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;D	0.83075	-1.68;-1.68;-1.68	4.2	4.2	0.49525	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.84320	0.5446	L	0.45422	1.42	0.09310	N	0.999995	P;B;P;P	0.50272	0.933;0.012;0.846;0.872	P;B;P;P	0.56343	0.796;0.011;0.467;0.674	T	0.74231	-0.3732	9	0.30078	T	0.28	.	12.4104	0.55464	0.0:0.0:0.0:1.0	.	475;475;544;605	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	G	544;605;475	ENSP00000347293:S544G;ENSP00000263800:S605G;ENSP00000392196:S475G	ENSP00000263800:S605G	S	-	1	0	LTK	39584905	0.590000	0.26815	0.008000	0.14137	0.354000	0.29330	2.992000	0.49417	1.768000	0.52137	0.402000	0.26972	AGT		0.597	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			C	41797613	T	C	41797613	3	2	6	1	0	0	0	0	1	0	0	0	9082	1580	55	3	809	3	LTK	15	41797613	Missense_Mutation	SNP	T	TCGA-2Z-A9J6-01A-11D-A382-10	16181350	41797613	60733779	33	528											
CREBBP	1387	hgsc.bcm.edu	37	16	3779274	3779274	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr16:3779274G>C	ENST00000262367.5	-	31	6583	c.5774C>G	c.(5773-5775)gCc>gGc	p.A1925G	CREBBP_ENST00000382070.3_Missense_Mutation_p.A1887G	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1925					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGAGTCCGGGCCACGCTGGG	0.736			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													7	8	8					16																	3779274		2041	4026	6067	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5774C>G	chr16.hg19:g.3779274G>C	ENSP00000262367:p.Ala1925Gly		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	8.148	0.786786	0.16189	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.83591	-1.74;-1.68	5.16	4.2	0.49525	.	0.484348	0.20989	N	0.082069	T	0.70334	0.3212	L	0.29908	0.895	0.33812	D	0.628027	B;B	0.17038	0.02;0.02	B;B	0.14578	0.011;0.011	T	0.67341	-0.5695	10	0.19147	T	0.46	-4.3631	7.9121	0.29798	0.0813:0.0:0.76:0.1587	.	1955;1925	Q4LE28;Q92793	.;CBP_HUMAN	G	1925;1955;1887;460	ENSP00000262367:A1925G;ENSP00000371502:A1887G	ENSP00000262367:A1925G	A	-	2	0	CREBBP	3719275	0.952000	0.32445	1.000000	0.80357	0.997000	0.91878	3.424000	0.52764	1.184000	0.42957	0.655000	0.94253	GCC		0.736	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		C	3779274	G	C	3779274	3	2	6	1	0	0	0	0	1	0	0	0	3863	1203	42	4	1558	4	CREBBP	16	3779274	Missense_Mutation	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10		3779274	86575479	34	529											
GRIN2A	2903	hgsc.bcm.edu	37	16	10032281	10032281	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr16:10032281C>A	ENST00000396573.2	-	4	851	c.542G>T	c.(541-543)aGg>aTg	p.R181M	GRIN2A_ENST00000330684.3_Missense_Mutation_p.R181M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R181M|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R181M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R24M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R181M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	181					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATGAATTCCCTGTAGCCAGG	0.517																																																0													108	96	100					16																	10032281		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.542G>T	chr16.hg19:g.10032281C>A	ENSP00000379818:p.Arg181Met		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	hg19	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.306611	0.81247	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.47	5.47	0.80525	Extracellular ligand-binding receptor (1);	0.051432	0.85682	D	0.000000	D	0.94879	0.8345	M	0.61703	1.905	0.41884	D	0.990333	D;D;D	0.61697	0.964;0.99;0.989	P;D;P	0.63033	0.844;0.91;0.87	D	0.94078	0.7341	9	.	.	.	.	18.6894	0.91577	0.0:1.0:0.0:0.0	.	24;181;181	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	181;181;24;181;181	ENSP00000379818:R181M;ENSP00000385872:R181M;ENSP00000441572:R24M;ENSP00000332549:R181M;ENSP00000379820:R181M	.	R	-	2	0	GRIN2A	9939782	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	4.792000	0.62467	2.724000	0.93272	0.561000	0.74099	AGG		0.517	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	10032281	C	A	10032281	3	1	6	1	0	0	0	0	1	0	0	0	6781	681	24	4	3896	4	GRIN2A	16	10032281	Missense_Mutation	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10	6253007	10032281	80322472	35	530											
ABCC6	368	hgsc.bcm.edu	37	16	16244436	16244436	+	Splice_Site	SNP	G	G	C			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr16:16244436G>C	ENST00000205557.7	-	30	4431	c.4402C>G	c.(4402-4404)Cgg>Ggg	p.R1468G		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1468	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GAGCCTTACCGGGCACAGTCC	0.672																																																0													32	27	29					16																	16244436		2197	4298	6495	SO:0001630	splice_region_variant	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4403+1C>G	chr16.hg19:g.16244436G>C			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	hg19	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225530	0.39300	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	T	0.76316	-1.01	4.38	3.3	0.37823	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.45361	U	0.000380	D	0.89508	0.6735	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.90091	0.4177	10	0.87932	D	0	.	10.7299	0.46089	0.0:0.0:0.3466:0.6534	.	1468;1468	O95255;A8Y988	MRP6_HUMAN;.	G	1468;406	ENSP00000205557:R1468G	ENSP00000205557:R1468G	R	-	1	2	ABCC6	16151937	1.000000	0.71417	0.987000	0.45799	0.152000	0.21847	2.582000	0.46085	0.699000	0.31761	0.561000	0.74099	CGG		0.672	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2		Missense_Mutation	C	16244436	G	C	16244436	5	2	6	1	0	0	0	0	0	0	1	0	57	1130	39	4	117	4	ABCC6	16	16244436	Splice_Site	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10	6212155	16244436	74110317	36	531											
MYH4	4622	hgsc.bcm.edu	37	17	10352186	10352187	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr17:10352186_10352187insA	ENST00000255381.2	-	31	4469_4470	c.4359_4360insT	c.(4357-4362)tttgacfs	p.D1454fs	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1454					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACCACCTTGTCAAAGTTTCTTT	0.446																																																0																																										SO:0001589	frameshift_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4360dupT	chr17.hg19:g.10352189_10352189dupA	ENSP00000255381:p.Asp1454fs			Frame_Shift_Ins	INS	ENST00000255381.2	hg19	CCDS11154.1																																																																																				0.446	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10352187	-	A	10352186	7	5	6	1	0	1	1	0	0	0	0	0	10039	826	29	0	1499	0	MYH4	17	10352186	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J6-01A-11D-A382-10		10352186	70843024	37	532											
RAI1	10743	hgsc.bcm.edu	37	17	17698698	17698698	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr17:17698698G>T	ENST00000353383.1	+	3	2905	c.2436G>T	c.(2434-2436)caG>caT	p.Q812H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q812H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	812					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACTTCAAGCAGGAGGAGGTGG	0.677																																																0													29	37	34					17																	17698698		2203	4300	6503	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2436G>T	chr17.hg19:g.17698698G>T	ENSP00000323074:p.Gln812His		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204428	0.38905	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69806	-0.43;2.31;0.17	5.37	4.39	0.52855	.	0.247497	0.35495	N	0.003161	T	0.61211	0.2329	L	0.60455	1.87	0.30237	N	0.795346	B	0.25441	0.126	B	0.22753	0.041	T	0.62987	-0.6737	10	0.54805	T	0.06	.	11.0862	0.48089	0.1501:0.0:0.8499:0.0	.	812	Q7Z5J4	RAI1_HUMAN	H	812;812;812;812;812;764	ENSP00000323074:Q812H;ENSP00000379120:Q812H;ENSP00000261641:Q812H	ENSP00000261641:Q812H	Q	+	3	2	RAI1	17639423	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.004000	0.40854	1.256000	0.44068	0.561000	0.74099	CAG		0.677	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		T	17698698	G	T	17698698	3	4	6	1	0	0	0	0	1	0	0	0	13013	991	35	4	2438	4	RAI1	17	17698698	Missense_Mutation	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10	7346512	17698698	63496512	38	533			1	1		2	2	15	G		2.396864e-05
RAI1	10743	hgsc.bcm.edu	37	17	17698712	17698712	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr17:17698712G>T	ENST00000353383.1	+	3	2919	c.2450G>T	c.(2449-2451)gGg>gTg	p.G817V	RAI1_ENST00000261641.6_Missense_Mutation_p.G817V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	817					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GAGGTGGGTGGGGTGAAGGAG	0.687																																																0													27	35	32					17																	17698712		2201	4299	6500	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2450G>T	chr17.hg19:g.17698712G>T	ENSP00000323074:p.Gly817Val		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625786	0.66901	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.66460	-0.21;2.51;0.39	5.37	4.31	0.51392	.	0.157090	0.43260	D	0.000600	T	0.56352	0.1979	L	0.44542	1.39	0.80722	D	1	D	0.54397	0.966	P	0.47299	0.543	T	0.55835	-0.8078	10	0.31617	T	0.26	.	3.5178	0.07731	0.3696:0.0:0.6304:0.0	.	817	Q7Z5J4	RAI1_HUMAN	V	817;817;817;817;817;769	ENSP00000323074:G817V;ENSP00000379120:G817V;ENSP00000261641:G817V	ENSP00000261641:G817V	G	+	2	0	RAI1	17639437	1.000000	0.71417	0.992000	0.48379	0.764000	0.43329	2.141000	0.42168	2.519000	0.84933	0.561000	0.74099	GGG		0.687	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		T	17698712	G	T	17698712	3	4	6	1	0	0	0	0	1	0	0	0	13013	1232	43	4	2452	4	RAI1	17	17698712	Missense_Mutation	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10	14	17698712	63496498	39	534			1	1		2	2	15	G		2.396864e-05
SLC5A10	125206	hgsc.bcm.edu	37	17	18922878	18922878	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr17:18922878G>A	ENST00000395645.3	+	12	1402	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	SLC5A10_ENST00000395647.2_Missense_Mutation_p.V478I|SLC5A10_ENST00000417251.2_Missense_Mutation_p.V426I|SLC5A10_ENST00000395643.2_Missense_Mutation_p.V435I|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V432I|SLC5A10_ENST00000317977.6_Missense_Mutation_p.V432I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	462					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGTCCTGGGCGTCTTCTGGCG	0.637																																																0													69	61	64					17																	18922878		2203	4300	6503	SO:0001583	missense	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1384G>A	chr17.hg19:g.18922878G>A	ENSP00000379007:p.Val462Ile		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	hg19	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	0.941	-0.709631	0.03230	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.09;-2.19;-2.19	4.49	0.944	0.19537	Sodium/solute symporter, conserved site (1);	0.231384	0.43579	N	0.000551	T	0.59905	0.2228	N	0.01454	-0.855	0.31052	N	0.715133	B;B;B;B;B	0.09022	0.001;0.0;0.001;0.001;0.002	B;B;B;B;B	0.12156	0.007;0.003;0.007;0.002;0.005	T	0.57493	-0.7802	10	0.02654	T	1	.	7.4201	0.27067	0.6057:0.0:0.3942:0.0	.	426;435;462;478;432	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	I	432;478;432;426;462;435	ENSP00000324346:V432I;ENSP00000379008:V478I;ENSP00000379004:V432I;ENSP00000401875:V426I;ENSP00000379007:V462I;ENSP00000379005:V435I	ENSP00000324346:V432I	V	+	1	0	SLC5A10	18863603	0.322000	0.24634	1.000000	0.80357	0.531000	0.34715	0.814000	0.27239	0.213000	0.20722	-0.340000	0.08031	GTC		0.637	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		A	18922878	G	A	18922878	3	1	6	1	0	0	0	0	1	0	0	0	14668	1145	40	1	1478	1	SLC5A10	17	18922878	Missense_Mutation	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10	1224166	18922878	62272332	40	535											
SPAG9	9043	hgsc.bcm.edu	37	17	49157055	49157055	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr17:49157055T>A	ENST00000262013.7	-	2	522	c.314A>T	c.(313-315)gAa>gTa	p.E105V	SPAG9_ENST00000357122.4_Missense_Mutation_p.E105V|SPAG9_ENST00000505279.1_Missense_Mutation_p.E105V|RP11-481C4.1_ENST00000509833.1_RNA	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	105					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GTCTTCAAATTCAATGAATTT	0.294																																																0													82	83	83					17																	49157055		2203	4300	6503	SO:0001583	missense	9043			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.314A>T	chr17.hg19:g.49157055T>A	ENSP00000262013:p.Glu105Val		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	hg19	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.731306	0.48939	.	.	ENSG00000008294	ENST00000262013;ENST00000505279;ENST00000357122;ENST00000546269	T;T;T	0.48201	0.82;0.82;0.82	5.19	5.19	0.71726	JNK/Rab-associated protein-1, N-terminal (1);	0.317983	0.29752	N	0.011294	T	0.67674	0.2918	M	0.81341	2.54	0.50632	D	0.999886	P;P;B	0.50369	0.523;0.934;0.348	P;P;B	0.59643	0.543;0.861;0.22	T	0.73110	-0.4086	10	0.87932	D	0	-16.6007	15.3432	0.74314	0.0:0.0:0.0:1.0	.	105;105;105	O60271-2;O60271;O60271-4	.;JIP4_HUMAN;.	V	105	ENSP00000262013:E105V;ENSP00000426900:E105V;ENSP00000349636:E105V	ENSP00000262013:E105V	E	-	2	0	SPAG9	46512054	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.896000	0.56266	2.088000	0.63022	0.528000	0.53228	GAA		0.294	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		A	49157055	T	A	49157055	3	1	6	1	0	0	0	0	1	0	0	0	14991	1783	62	5	3767	5	SPAG9	17	49157055	Missense_Mutation	SNP	T	TCGA-2Z-A9J6-01A-11D-A382-10	30234177	49157055	32038155	41	536											
BAIAP2	10458	hgsc.bcm.edu	37	17	79031740	79031740	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr17:79031740A>G	ENST00000321300.6	+	3	283	c.190A>G	c.(190-192)Agc>Ggc	p.S64G	BAIAP2_ENST00000435091.3_Missense_Mutation_p.S64G|BAIAP2_ENST00000575712.1_Missense_Mutation_p.S64G|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000428708.2_Missense_Mutation_p.S64G|BAIAP2_ENST00000392411.3_Intron|BAIAP2_ENST00000575245.1_Missense_Mutation_p.S97G|BAIAP2_ENST00000321280.7_Missense_Mutation_p.S64G	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	64	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGAGCTGGCCAGCGAGAGCCA	0.622																																																0													41	39	40					17																	79031740		2203	4300	6503	SO:0001583	missense	10458			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.190A>G	chr17.hg19:g.79031740A>G	ENSP00000316338:p.Ser64Gly		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	hg19	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264088	0.80358	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.99	3.83	0.44106	IRSp53/MIM homology domain (IMD) (3);	0.043292	0.85682	D	0.000000	T	0.53222	0.1783	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.997;0.969;0.952;0.995;0.995;0.977	T	0.49744	-0.8907	10	0.30078	T	0.28	-13.536	10.5453	0.45056	0.8379:0.1621:0.0:0.0	.	64;64;64;64;64;64	Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	BAIP2_HUMAN;.;.;.;.;.	G	64	ENSP00000316338:S64G;ENSP00000401022:S64G;ENSP00000413069:S64G;ENSP00000315685:S64G	ENSP00000315685:S64G	S	+	1	0	BAIAP2	76646335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.338000	0.72963	1.875000	0.54330	0.459000	0.35465	AGC		0.622	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			G	79031740	A	G	79031740	3	3	6	1	0	0	0	0	1	0	0	0	1301	188	7	3	200	3	BAIAP2	17	79031740	Missense_Mutation	SNP	A	TCGA-2Z-A9J6-01A-11D-A382-10	29874685	79031740	2163470	42	537											
LAMA3	3909	hgsc.bcm.edu	37	18	21418824	21418824	+	Missense_Mutation	SNP	G	G	T	rs546055094		TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr18:21418824G>T	ENST00000313654.9	+	26	3414	c.3173G>T	c.(3172-3174)gGg>gTg	p.G1058V	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1058V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1058	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCCAGTTATGGGCGATTTGTC	0.418																																																0													188	186	187					18																	21418824		1957	4143	6100	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3173G>T	chr18.hg19:g.21418824G>T	ENSP00000324532:p.Gly1058Val		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	hg19	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831649	0.50845	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.26373	1.76;1.74	5.52	4.65	0.58169	.	.	.	.	.	T	0.47600	0.1454	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.66602	0.945;0.843	T	0.50988	-0.8762	9	0.66056	D	0.02	.	14.7529	0.69540	0.0697:0.0:0.9303:0.0	.	1058;1058	Q6VU67;Q16787	.;LAMA3_HUMAN	V	1058;1058;1056	ENSP00000324532:G1058V;ENSP00000382432:G1058V	ENSP00000324532:G1058V	G	+	2	0	LAMA3	19672822	0.990000	0.36364	0.012000	0.15200	0.220000	0.24768	4.035000	0.57297	1.476000	0.48215	0.655000	0.94253	GGG		0.418	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21418824	G	T	21418824	3	4	6	1	0	0	0	0	1	0	0	0	8609	1232	43	4	3275	4	LAMA3	18	21418824	Missense_Mutation	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10		21418824	56658424	43	538											
SMAD2	4087	hgsc.bcm.edu	37	18	45395677	45395677	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr18:45395677A>C	ENST00000402690.2	-	4	851	c.457T>G	c.(457-459)Ttt>Gtt	p.F153V	SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000591214.1_Missense_Mutation_p.F123V|SMAD2_ENST00000586040.1_Missense_Mutation_p.F123V|SMAD2_ENST00000356825.4_Missense_Mutation_p.F123V|SMAD2_ENST00000262160.6_Missense_Mutation_p.F153V	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	153	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TTAAGATTAAAAGCATATTCG	0.373																																																0													106	106	106					18																	45395677		2203	4300	6503	SO:0001583	missense	4087			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"SMADs"	6768	protein-coding gene	gene with protein product		601366	"MAD, mothers against decapentaplegic homolog 2 (Drosophila)", "SMAD, mothers against DPP homolog 2 (Drosophila)"	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.457T>G	chr18.hg19:g.45395677A>C	ENSP00000384449:p.Phe153Val			Missense_Mutation	SNP	ENST00000402690.2	hg19	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.911800	0.72983	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	T;T;T	0.77358	-1.09;-1.09;-1.09	5.17	5.17	0.71159	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.85999	0.5828	M	0.70595	2.14	0.80722	D	1	D;D;D	0.63046	0.992;0.989;0.992	D;P;D	0.62955	0.909;0.897;0.909	D	0.87886	0.2681	10	0.87932	D	0	.	15.2967	0.73913	1.0:0.0:0.0:0.0	.	123;123;153	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	V	153;123;153	ENSP00000262160:F153V;ENSP00000349282:F123V;ENSP00000384449:F153V	ENSP00000262160:F153V	F	-	1	0	SMAD2	43649675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.074000	0.62210	0.482000	0.46254	TTT		0.373	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		C	45395677	A	C	45395677	3	2	6	1	0	0	0	0	1	0	0	0	14764	14	1	5	978	5	SMAD2	18	45395677	Missense_Mutation	SNP	A	TCGA-2Z-A9J6-01A-11D-A382-10	23976853	45395677	32681571	44	539											
OR7G1	125962	hgsc.bcm.edu	37	19	9226308	9226308	+	Silent	SNP	G	G	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr19:9226308G>A	ENST00000541538.1	-	1	131	c.132C>T	c.(130-132)ctC>ctT	p.L44L	OR7G1_ENST00000293614.1_Silent_p.L44L	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CCAGGAGAATGAGCAGGTTCC	0.478																																																0													147	138	141					19																	9226308		2203	4300	6503	SO:0001819	synonymous_variant	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.132C>T	chr19.hg19:g.9226308G>A			Q6IFJ5|Q96RA1	Silent	SNP	ENST00000541538.1	hg19	CCDS32898.2																																																																																				0.478	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			A	9226308	G	A	9226308	2	1	6	1	0	0	0	0	0	0	0	1	11224	1277	45	2		2	OR7G1	19	9226308	Silent	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10		9226308	49902675	45	540											
QTRT1	81890	hgsc.bcm.edu	37	19	10823829	10823829	+	Silent	SNP	G	G	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr19:10823829G>A	ENST00000250237.5	+	10	1105	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	365					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CCAGCATCGTGGAGAAGCGCT	0.687																																																0													62	60	60					19																	10823829		2203	4300	6503	SO:0001819	synonymous_variant	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.1095G>A	chr19.hg19:g.10823829G>A			B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	ENST00000250237.5	hg19	CCDS12248.1																																																																																				0.687	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		A	10823829	G	A	10823829	2	1	6	1	0	0	0	0	0	0	0	1	12891	1335	47	2		2	QTRT1	19	10823829	Silent	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10	1597521	10823829	48305154	46	541											
ETHE1	23474	hgsc.bcm.edu	37	19	44012185	44012185	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr19:44012185T>A	ENST00000292147.2	-	6	689	c.623A>T	c.(622-624)gAg>gTg	p.E208V	ETHE1_ENST00000600651.1_Missense_Mutation_p.E208V	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	208					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CAGAGTCCTCTCCTCCTCCAC	0.557																																																0													74	59	64					19																	44012185		2203	4300	6503	SO:0001583	missense	23474				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.623A>T	chr19.hg19:g.44012185T>A	ENSP00000292147:p.Glu208Val		Q96HR0|Q9H001	Missense_Mutation	SNP	ENST00000292147.2	hg19	CCDS12622.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.543602	0.86022	.	.	ENSG00000105755	ENST00000292147	D	0.96856	-4.15	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.98557	0.9518	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.979;0.995	D	0.99433	1.0936	10	0.87932	D	0	-8.9073	13.0221	0.58794	0.0:0.0:0.0:1.0	.	181;208	B2RCZ7;O95571	.;ETHE1_HUMAN	V	208	ENSP00000292147:E208V	ENSP00000292147:E208V	E	-	2	0	ETHE1	48704025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.780000	0.68956	2.232000	0.73038	0.524000	0.50904	GAG		0.557	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		A	44012185	T	A	44012185	3	1	6	1	0	0	0	0	1	0	0	0	5274	1551	54	5	149	5	ETHE1	19	44012185	Missense_Mutation	SNP	T	TCGA-2Z-A9J6-01A-11D-A382-10	33188356	44012185	15116798	47	542											
ZNF180	7733	hgsc.bcm.edu	37	19	44980632	44980632	+	Missense_Mutation	SNP	T	T	C	rs141416252		TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr19:44980632T>C	ENST00000221327.4	-	5	2347	c.2066A>G	c.(2065-2067)tAt>tGt	p.Y689C	ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.Y664C|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.Y662C	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	689					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTTACATTCATAGAGTTTCTC	0.313																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)											0								T	CYS/TYR	2,4402	4.2+/-10.8	0,2,2200	70	76	74		2066	2.1	0	19	dbSNP_134	74	0,8598		0,0,4299	no	missense	ZNF180	NM_013256.3	194	0,2,6499	CC,CT,TT		0.0,0.0454,0.0154	probably-damaging	689/693	44980632	2,13000	2202	4299	6501	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.2066A>G	chr19.hg19:g.44980632T>C	ENSP00000221327:p.Tyr689Cys		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	hg19	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716111	0.30413	4.54E-4	0.0	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.03065	4.06;4.06	5.39	2.09	0.27110	.	0.920664	0.08851	N	0.884394	T	0.07458	0.0188	M	0.83953	2.67	0.19300	N	0.999979	B;B;B	0.22746	0.074;0.044;0.044	B;B;B	0.18561	0.022;0.01;0.01	T	0.32877	-0.9890	10	0.87932	D	0	-3.506	5.3213	0.15883	0.0:0.1527:0.2806:0.5667	.	664;688;689	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	C	689;664	ENSP00000221327:Y689C;ENSP00000375818:Y664C	ENSP00000221327:Y689C	Y	-	2	0	ZNF180	49672472	0.001000	0.12720	0.000000	0.03702	0.939000	0.58152	0.680000	0.25306	0.088000	0.17205	0.482000	0.46254	TAT		0.313	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		C	44980632	T	C	44980632	3	2	6	1	0	0	0	0	1	0	0	0	17753	1406	49	3	16	3	ZNF180	19	44980632	Missense_Mutation	SNP	T	TCGA-2Z-A9J6-01A-11D-A382-10	968447	44980632	14148351	48	543											
PROKR2	128674	hgsc.bcm.edu	37	20	5294901	5294901	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr20:5294901C>T	ENST00000217270.3	-	1	114	c.115G>A	c.(115-117)Gag>Aag	p.E39K	PROKR2_ENST00000546004.1_Missense_Mutation_p.E39K	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	39					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCCTCATCCTCATCCATAGGG	0.507										HNSCC(71;0.22)																																						0													139	121	127					20																	5294901		2203	4300	6503	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.115G>A	chr20.hg19:g.5294901C>T	ENSP00000217270:p.Glu39Lys		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	hg19	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007135	0.75046	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.71103	-0.54;-0.54	4.6	4.6	0.57074	.	0.259050	0.40640	N	0.001056	T	0.67552	0.2905	M	0.68593	2.085	0.58432	D	0.999999	B	0.30146	0.27	B	0.32724	0.151	T	0.63902	-0.6532	10	0.11485	T	0.65	.	15.2898	0.73857	0.0:1.0:0.0:0.0	.	39	Q8NFJ6	PKR2_HUMAN	K	39	ENSP00000440790:E39K;ENSP00000217270:E39K	ENSP00000217270:E39K	E	-	1	0	PROKR2	5242901	0.998000	0.40836	0.996000	0.52242	0.934000	0.57294	3.102000	0.50291	2.269000	0.75478	0.655000	0.94253	GAG		0.507	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		T	5294901	C	T	5294901	3	4	6	1	0	0	0	0	1	0	0	0	12558	835	29	2	1046	2	PROKR2	20	5294901	Missense_Mutation	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10		5294901	57730619	49	544											
SLC13A3	64849	hgsc.bcm.edu	37	20	45239165	45239165	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr20:45239165A>T	ENST00000279027.4	-	3	479	c.461T>A	c.(460-462)aTt>aAt	p.I154N	SLC13A3_ENST00000413164.2_Missense_Mutation_p.I154N|SLC13A3_ENST00000396360.1_Missense_Mutation_p.I107N|SLC13A3_ENST00000417157.2_Missense_Mutation_p.I107N|SLC13A3_ENST00000372121.1_Missense_Mutation_p.I154N|SLC13A3_ENST00000472148.1_Missense_Mutation_p.I107N|SLC13A3_ENST00000495082.1_Missense_Mutation_p.I107N|SLC13A3_ENST00000339636.3_Missense_Mutation_p.I154N|SLC13A3_ENST00000435032.1_De_novo_Start_InFrame|SLC13A3_ENST00000290317.5_Missense_Mutation_p.I107N	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	154					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGCATTGGCAATGGGAAGCAT	0.552																																																0													210	192	198					20																	45239165		2203	4300	6503	SO:0001583	missense	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.461T>A	chr20.hg19:g.45239165A>T	ENSP00000279027:p.Ile154Asn		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	hg19	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993818	0.74703	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121;ENST00000417157;ENST00000339636	T;T;T;T;T;T;T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	T	0.19224	-1.0312	10	0.87932	D	0	-25.0823	16.1297	0.81418	1.0:0.0:0.0:0.0	.	154;107;107;107;154	B4DIR8;Q8WWT9-3;F6WI18;C9J4A3;Q8WWT9	.;.;.;.;S13A3_HUMAN	N	107;107;154;107;154;107;107;117;154;107;154	ENSP00000290317:I107N;ENSP00000379648:I107N;ENSP00000279027:I154N;ENSP00000420177:I107N;ENSP00000415852:I154N;ENSP00000419621:I107N;ENSP00000417784:I107N;ENSP00000395095:I117N;ENSP00000361193:I154N;ENSP00000397955:I107N;ENSP00000344912:I154N	ENSP00000279027:I154N	I	-	2	0	SLC13A3	44672572	1.000000	0.71417	0.974000	0.42286	0.386000	0.30323	9.287000	0.95975	2.270000	0.75569	0.460000	0.39030	ATT		0.552	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			T	45239165	A	T	45239165	3	4	6	1	0	0	0	0	1	0	0	0	14399	101	4	5	1391	5	SLC13A3	20	45239165	Missense_Mutation	SNP	A	TCGA-2Z-A9J6-01A-11D-A382-10	39944264	45239165	17786355	50	545											
TTC3	7267	hgsc.bcm.edu	37	21	38494164	38494164	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr21:38494164C>G	ENST00000399017.2	+	12	3695	c.948C>G	c.(946-948)gaC>gaG	p.D316E	TTC3_ENST00000354749.2_Missense_Mutation_p.D316E|TTC3_ENST00000355666.1_Missense_Mutation_p.D316E|TTC3_ENST00000540756.1_Missense_Mutation_p.D6E|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	316					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGGAATATGACTGGGCCCTGC	0.343																																					Ovarian(38;194 1649 35661)											0													62	63	63					21																	38494164		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.948C>G	chr21.hg19:g.38494164C>G	ENSP00000381981:p.Asp316Glu		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	hg19	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	5.051	0.195106	0.09599	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.39406	1.34;1.34;1.34;3.27;1.08;3.27;3.27	5.55	2.52	0.30459	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.196102	0.35525	N	0.003151	T	0.15782	0.0380	N	0.02539	-0.55	0.24581	N	0.993876	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.21042	-1.0257	10	0.20046	T	0.44	-8.2624	8.1826	0.31319	0.4198:0.4365:0.1436:0.0	.	6;316	B4DSZ9;P53804	.;TTC3_HUMAN	E	316;316;298;316;6;316;316	ENSP00000403943:D316E;ENSP00000408456:D316E;ENSP00000391891:D298E;ENSP00000347889:D316E;ENSP00000442875:D6E;ENSP00000381981:D316E;ENSP00000346791:D316E	ENSP00000346791:D316E	D	+	3	2	TTC3	37416034	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.383000	0.20651	0.679000	0.31345	0.650000	0.86243	GAC		0.343	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			G	38494164	C	G	38494164	3	3	6	1	0	0	0	0	1	0	0	0	16702	564	20	4	990	4	TTC3	21	38494164	Missense_Mutation	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10		38494164	9635731	51	546											
MYO18B	84700	hgsc.bcm.edu	37	22	26164198	26164198	+	Silent	SNP	G	G	C			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chr22:26164198G>C	ENST00000407587.2	+	4	484	c.315G>C	c.(313-315)ctG>ctC	p.L105L	MYO18B_ENST00000536101.1_Silent_p.L105L|MYO18B_ENST00000335473.7_Silent_p.L105L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	105	Ser-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGACATTCTGGGCAAGGAGA	0.602																																																0													76	82	80					22																	26164198		1969	4152	6121	SO:0001819	synonymous_variant	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.315G>C	chr22.hg19:g.26164198G>C			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	hg19																																																																																					0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		C	26164198	G	C	26164198	2	2	6	1	0	0	0	0	0	0	0	1	10068	1335	47	4		4	MYO18B	22	26164198	Silent	SNP	G	TCGA-2Z-A9J6-01A-11D-A382-10		26164198	25140368	52	547											
ITIH5L	347365	hgsc.bcm.edu	37	X	54777684	54777684	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J6-01A-11D-A382-10	TCGA-2Z-A9J6-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4d9f71f-1f39-480d-bb51-01ec0e2b06dd	6b322937-8164-4794-b588-a7711b2e8a48	g.chrX:54777684C>T	ENST00000218436.6	-	12	3511	c.3482G>A	c.(3481-3483)cGc>cAc	p.R1161H		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1161					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TATAGAACTGCGGCTGATGGT	0.587													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14301	0.0		0.0	False		,,,				2504	0.0															0													80	66	71					X																	54777684		2203	4300	6503	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3482G>A	chrX.hg19:g.54777684C>T	ENSP00000218436:p.Arg1161His		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	hg19	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	2.230	-0.376357	0.05000	.	.	ENSG00000102313	ENST00000218436	T	0.11495	2.77	3.58	-4.03	0.04021	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	2.392490	0.02752	N	0.117600	T	0.06690	0.0171	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32613	-0.9900	10	0.38643	T	0.18	.	2.5439	0.04732	0.1157:0.3461:0.1136:0.4246	.	1161	Q6UXX5	ITH5L_HUMAN	H	1161	ENSP00000218436:R1161H	ENSP00000218436:R1161H	R	-	2	0	ITIH5L	54794409	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.458000	0.02372	-0.749000	0.04747	-0.742000	0.03525	CGC		0.587	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		T	54777684	C	T	54777684	3	4	6	1	0	0	0	0	1	0	0	0	7910	768	27	1	467	1	ITIH5L	23	54777684	Missense_Mutation	SNP	C	TCGA-2Z-A9J6-01A-11D-A382-10		54777684	100492876	53	548											
S100PBP	64766	hgsc.bcm.edu	37	1	33292095	33292095	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr1:33292095C>T	ENST00000373475.5	+	3	649	c.395C>T	c.(394-396)cCa>cTa	p.P132L	S100PBP_ENST00000373476.1_Missense_Mutation_p.P132L|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Missense_Mutation_p.P132L	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CATACTAAACCATTAAACAGA	0.418																																																0													57	57	57					1																	33292095		2203	4300	6503	SO:0001583	missense	64766			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.395C>T	chr1.hg19:g.33292095C>T	ENSP00000362574:p.Pro132Leu			Missense_Mutation	SNP	ENST00000373475.5	hg19	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768157	0.31320	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689;ENST00000531256;ENST00000482212	.	.	.	5.85	5.85	0.93711	.	0.276721	0.35040	N	0.003497	T	0.60753	0.2293	N	0.19112	0.55	0.39844	D	0.973141	D;D	0.63046	0.992;0.992	D;P	0.64410	0.925;0.856	T	0.58200	-0.7678	8	.	.	.	-1.5056	16.0378	0.80642	0.0:1.0:0.0:0.0	.	132;132	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	L	132	.	.	P	+	2	0	S100PBP	33064682	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	3.345000	0.52182	2.941000	0.99782	0.655000	0.94253	CCA		0.418	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		T	33292095	C	T	33292095	3	4	7	1	0	0	0	0	1	0	0	0	13797	594	21	2	397	2	S100PBP	1	33292095	Missense_Mutation	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10		33292095	215958526	1	549											
CDC20	991	hgsc.bcm.edu	37	1	43825898	43825898	+	Silent	SNP	A	A	G			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr1:43825898A>G	ENST00000372462.1	+	5	794	c.591A>G	c.(589-591)gtA>gtG	p.V197V	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Silent_p.V197V			Q12834	CDC20_HUMAN	cell division cycle 20	197					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGGAATGTACTGGCCGTGG	0.517																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)											0													155	146	149					1																	43825898		2203	4300	6503	SO:0001819	synonymous_variant	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.591A>G	chr1.hg19:g.43825898A>G			B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Silent	SNP	ENST00000372462.1	hg19	CCDS484.1																																																																																				0.517	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		G	43825898	A	G	43825898	2	3	7	1	0	0	0	0	0	0	0	1	3061	378	14	3		3	CDC20	1	43825898	Silent	SNP	A	TCGA-2Z-A9J7-01A-11D-A382-10	10533803	43825898	205424723	2	550											
PLK3	1263	hgsc.bcm.edu	37	1	45266511	45266511	+	Splice_Site	DEL	G	G	-			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr1:45266511delG	ENST00000372201.4	+	2	449		c.e2-1		PLK3_ENST00000465443.1_Splice_Site	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCTCTTCACAGGGGGGCTTCG	0.701																																																0													10	13	12					1																	45266511		2175	4262	6437	SO:0001630	splice_region_variant	1263			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.211-1G>-	chr1.hg19:g.45266511delG			Q15767|Q5JR99|Q96CV1	Splice_Site	DEL	ENST00000372201.4	hg19	CCDS515.1																																																																																				0.701	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073	Intron	-	45266511	G	-	45266511	8	5	7	1	0	1	0	1	0	0	1	0	12099	1014	35	0	216	0	PLK3	1	45266511	Splice_Site	DEL	G	TCGA-2Z-A9J7-01A-11D-A382-10	1440613	45266511	203984110	3	551											
PTGER3	5733	hgsc.bcm.edu	37	1	71512615	71512615	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr1:71512615C>T	ENST00000306666.5	-	1	856	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	PTGER3_ENST00000370932.2_Missense_Mutation_p.G216S|PTGER3_ENST00000370931.3_Missense_Mutation_p.G216S|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000356595.4_Missense_Mutation_p.G216S|PTGER3_ENST00000354608.5_Missense_Mutation_p.G216S|PTGER3_ENST00000414819.1_Missense_Mutation_p.G216S|PTGER3_ENST00000351052.5_Missense_Mutation_p.G216S|PTGER3_ENST00000370924.4_Missense_Mutation_p.G216S|PTGER3_ENST00000460330.1_Missense_Mutation_p.G216S	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	216					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GTCCCGTTGCCCCCTCGCCCG	0.647																																																0													84	82	83					1																	71512615		2203	4300	6503	SO:0001583	missense	5733			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.646G>A	chr1.hg19:g.71512615C>T	ENSP00000302313:p.Gly216Ser		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	hg19	CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986926	0.53934	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.1	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.214089	0.44902	D	0.000416	T	0.37210	0.0995	N	0.08118	0	0.30485	N	0.772003	P;B;P;P;P;B;B;B	0.52061	0.805;0.201;0.95;0.698;0.885;0.101;0.29;0.338	P;B;P;B;P;B;B;B	0.50440	0.492;0.26;0.641;0.393;0.492;0.12;0.185;0.282	T	0.28364	-1.0046	10	0.16420	T	0.52	-16.9936	9.9405	0.41578	0.0:0.7752:0.0:0.2248	.	216;216;216;216;216;216;216;216	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	S	216	ENSP00000359969:G216S;ENSP00000359970:G216S;ENSP00000280208:G216S;ENSP00000418073:G216S;ENSP00000346624:G216S;ENSP00000349003:G216S;ENSP00000401423:G216S;ENSP00000302313:G216S;ENSP00000359962:G216S	ENSP00000302313:G216S	G	-	1	0	PTGER3	71285203	0.866000	0.29940	0.964000	0.40570	0.935000	0.57460	2.370000	0.44240	1.372000	0.46190	0.462000	0.41574	GGC		0.647	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		T	71512615	C	T	71512615	3	4	7	1	0	0	0	0	1	0	0	0	12750	623	22	2	845	2	PTGER3	1	71512615	Missense_Mutation	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10	26246104	71512615	177738006	4	552											
FUBP1	8880	hgsc.bcm.edu	37	1	78432739	78432739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr1:78432739C>A	ENST00000370768.2	-	5	418	c.337G>T	c.(337-339)Gga>Tga	p.G113*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G134*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.G113*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	113	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTACTGAATCCAACCATTCCA	0.274			"F, N"		oligodendroglioma																																		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													45	47	46					1																	78432739		2200	4293	6493	SO:0001587	stop_gained	8880			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.337G>T	chr1.hg19:g.78432739C>A	ENSP00000359804:p.Gly113*		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	hg19	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	35	5.472734	0.96274	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.1391	19.4544	0.94882	0.0:1.0:0.0:0.0	.	.	.	.	X	112;113;113;112;134;133	.	ENSP00000294623:G112X	G	-	1	0	FUBP1	78205327	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.776000	0.85560	2.669000	0.90835	0.591000	0.81541	GGA		0.274	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		A	78432739	C	A	78432739	4	1	7	1	0	0	0	0	0	1	0	0	6094	603	21	4	1661	4	FUBP1	1	78432739	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10	6920124	78432739	170817882	5	553											
CDC42BPA	8476	hgsc.bcm.edu	37	1	227268711	227268711	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr1:227268711G>C	ENST00000366769.3	-	17	3654	c.2363C>G	c.(2362-2364)aCt>aGt	p.T788S	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T788S|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T707S|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T788S|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T788S|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T788S|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T788S	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTCATACAAAGTAGTAAGCTG	0.368																																																0													141	128	132					1																	227268711		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2363C>G	chr1.hg19:g.227268711G>C	ENSP00000355731:p.Thr788Ser			Missense_Mutation	SNP	ENST00000366769.3	hg19	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.006|0.006	-2.071546|-2.071546	0.00379|0.00379	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000442054	T;T;T;T;T;T;T|.	0.64085|.	0.0;-0.01;-0.01;0.01;-0.08;-0.04;0.01|.	5.49|5.49	2.62|2.62	0.31277|0.31277	.|.	0.580520|.	0.20021|.	N|.	0.100917|.	T|.	0.16428|.	0.0395|.	N|N	0.03154|0.03154	-0.405|-0.405	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.10296|.	0.003;0.001;0.0;0.0;0.0|.	B;B;B;B;B|.	0.09377|.	0.004;0.002;0.001;0.001;0.0|.	T|.	0.25813|.	-1.0121|.	10|.	0.02654|.	T|.	1|.	.|.	10.8933|10.8933	0.47008|0.47008	0.2036:0.0:0.7964:0.0|0.2036:0.0:0.7964:0.0	.|.	788;788;707;788;788|.	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5;Q5VT25-2|.	.;.;.;.;.|.	S|X	788;707;788;788;788;52;788;788|81	ENSP00000355731:T788S;ENSP00000355729:T707S;ENSP00000335341:T788S;ENSP00000355728:T788S;ENSP00000355726:T788S;ENSP00000443275:T788S;ENSP00000355727:T788S|.	ENSP00000335341:T788S|.	T|Y	-|-	2|3	0|2	CDC42BPA|CDC42BPA	225335334|225335334	0.950000|0.950000	0.32346|0.32346	0.001000|0.001000	0.08648|0.08648	0.197000|0.197000	0.23852|0.23852	2.806000|2.806000	0.47947|0.47947	0.288000|0.288000	0.22398|0.22398	-0.216000|-0.216000	0.12614|0.12614	ACT|TAC		0.368	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		C	227268711	G	C	227268711	3	2	7	1	0	0	0	0	1	0	0	0	3074	1029	36	4	2876	4	CDC42BPA	1	227268711	Missense_Mutation	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10	148835972	227268711	21981910	6	554											
TTC15	51112	hgsc.bcm.edu	37	2	3392180	3392180	+	Silent	SNP	C	C	G			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr2:3392180C>G	ENST00000324266.5	+	2	981	c.786C>G	c.(784-786)ccC>ccG	p.P262P	TRAPPC12_ENST00000382110.2_Silent_p.P262P	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	262					vesicle-mediated transport (GO:0016192)												GCCCCGAACCCGTGGCCATGC	0.736																																																0													8	10	9					2																	3392180		2160	4207	6367	SO:0001819	synonymous_variant	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.786C>G	chr2.hg19:g.3392180C>G			B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	hg19	CCDS1652.1																																																																																				0.736	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		G	3392180	C	G	3392180	2	3	7	1	0	0	0	0	0	0	0	1	16687	639	23	4		4	TTC15	2	3392180	Silent	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10		3392180	239807193	7	555											
EGR4	1961	hgsc.bcm.edu	37	2	73519561	73519561	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr2:73519561G>C	ENST00000545030.1	-	2	868	c.794C>G	c.(793-795)tCg>tGg	p.S265W	EGR4_ENST00000436467.2_Missense_Mutation_p.S162W	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	265	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCGCAAGGCGAGGCCTCCCA	0.721																																																0													8	11	10					2																	73519561		2169	4251	6420	SO:0001583	missense	1961				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"Zinc fingers, C2H2-type"	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.794C>G	chr2.hg19:g.73519561G>C	ENSP00000445626:p.Ser265Trp		B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	hg19	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521481	0.27211	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.15603	2.41;2.75	4.39	4.39	0.52855	.	0.663371	0.14050	N	0.344855	T	0.24236	0.0587	N	0.24115	0.695	0.43122	D	0.994847	D;D	0.63880	0.988;0.993	P;D	0.63703	0.828;0.917	T	0.02263	-1.1186	10	0.87932	D	0	-8.1456	9.4657	0.38811	0.0984:0.0:0.9016:0.0	.	162;265	Q05215;G3V1T5	EGR4_HUMAN;.	W	265;162	ENSP00000445626:S265W;ENSP00000419687:S162W	ENSP00000419687:S162W	S	-	2	0	EGR4	73373069	0.112000	0.22096	0.985000	0.45067	0.221000	0.24807	1.161000	0.31773	2.267000	0.75376	0.555000	0.69702	TCG		0.721	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		C	73519561	G	C	73519561	3	2	7	1	0	0	0	0	1	0	0	0	4976	1059	37	4	979	4	EGR4	2	73519561	Missense_Mutation	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10	70127381	73519561	169679812	8	556											
SPEG	10290	hgsc.bcm.edu	37	2	220299815	220299815	+	Missense_Mutation	SNP	T	T	C	rs565137573	byFrequency	TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr2:220299815T>C	ENST00000312358.7	+	1	248	c.116T>C	c.(115-117)gTg>gCg	p.V39A		NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	39					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTGTGGCCGTGGCCGGGGCG	0.781													T|||	43	0.00858626	0.0287	0.0072	5008	,	,		10028	0.0		0.0	False		,,,				2504	0.0															0													1	2	2					2																	220299815		898	2387	3285	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.116T>C	chr2.hg19:g.220299815T>C	ENSP00000311684:p.Val39Ala		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	hg19	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	T	3.599	-0.081974	0.07141	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.63913	-0.07	3.19	-3.42	0.04825	Immunoglobulin-like fold (1);	0.959955	0.08421	N	0.948317	T	0.30070	0.0753	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.05436	T	0.98	.	4.6272	0.12484	0.0:0.2917:0.4213:0.2871	.	39	Q15772	SPEG_HUMAN	A	39	ENSP00000311684:V39A	ENSP00000265327:V39A	V	+	2	0	SPEG	220008059	0.000000	0.05858	0.071000	0.20095	0.324000	0.28378	-2.176000	0.01262	-1.212000	0.02620	0.460000	0.39030	GTG		0.781	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		C	220299815	T	C	220299815	3	2	7	1	0	0	0	0	1	0	0	0	15041	1696	59	3	118	3	SPEG	2	220299815	Missense_Mutation	SNP	T	TCGA-2Z-A9J7-01A-11D-A382-10	146780254	220299815	22899558	9	557											
PET112L	5188	hgsc.bcm.edu	37	4	152622569	152622569	+	Missense_Mutation	SNP	C	C	A	rs199827552		TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr4:152622569C>A	ENST00000515812.1	-	8	1002	c.986G>T	c.(985-987)cGg>cTg	p.R329L	PET112_ENST00000263985.6_Missense_Mutation_p.R370L																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						GAGTGTCTCCCGAATCTGGTC	0.557																																																0													72	68	69					4																	152622569		2203	4300	6503	SO:0001583	missense	5188																														ENST00000515812.1:c.986G>T	chr4.hg19:g.152622569C>A	ENSP00000426859:p.Arg329Leu			Missense_Mutation	SNP	ENST00000515812.1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.72	2.321005	0.41096	.	.	ENSG00000059691	ENST00000263985;ENST00000515812	T;T	0.50548	0.76;0.74	5.7	5.7	0.88788	.	0.226336	0.38720	N	0.001597	T	0.49712	0.1573	M	0.80982	2.52	0.80722	D	1	B	0.30914	0.3	B	0.22601	0.04	T	0.54774	-0.8243	10	0.66056	D	0.02	-18.6049	13.5076	0.61493	0.0:0.9194:0.0:0.0805	.	370	O75879	GATB_HUMAN	L	370;329	ENSP00000263985:R370L;ENSP00000426859:R329L	ENSP00000263985:R370L	R	-	2	0	PET112	152842019	0.876000	0.30132	0.835000	0.33067	0.365000	0.29674	1.675000	0.37555	2.679000	0.91253	0.650000	0.86243	CGG		0.557	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			A	152622569	C	A	152622569	3	1	7	1	0	0	0	0	1	0	0	0	11736	652	23	4	584	4	PET112L	4	152622569	Missense_Mutation	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10		152622569	38531707	10	558											
ZNF622	90441	hgsc.bcm.edu	37	5	16465654	16465654	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr5:16465654G>A	ENST00000308683.2	-	1	247	c.121C>T	c.(121-123)Cca>Tca	p.P41S		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	41					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GCGGTCACTGGGGCCATGCTG	0.682																																																0													33	34	34					5																	16465654		2203	4298	6501	SO:0001583	missense	90441			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.121C>T	chr5.hg19:g.16465654G>A	ENSP00000310042:p.Pro41Ser			Missense_Mutation	SNP	ENST00000308683.2	hg19	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267658	0.95399	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80448	-0.1378	9	0.46703	T	0.11	-4.253	18.4546	0.90715	0.0:0.0:1.0:0.0	.	41	Q969S3	ZN622_HUMAN	S	41	.	ENSP00000310042:P41S	P	-	1	0	ZNF622	16518654	1.000000	0.71417	0.995000	0.50966	0.872000	0.50106	9.482000	0.97935	2.576000	0.86940	0.650000	0.86243	CCA		0.682	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		A	16465654	G	A	16465654	3	1	7	1	0	0	0	0	1	0	0	0	18051	1232	43	2	1336	2	ZNF622	5	16465654	Missense_Mutation	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10		16465654	164449606	11	559											
PPAP2A	8611	hgsc.bcm.edu	37	5	54771139	54771139	+	Silent	SNP	G	G	A			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr5:54771139G>A	ENST00000307259.8	-	2	618	c.198C>T	c.(196-198)ttC>ttT	p.F66F	PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000264775.5_Intron	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	66					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				CGATAATACTGAATGGAATGA	0.348																																																0													119	111	114					5																	54771139		2203	4300	6503	SO:0001819	synonymous_variant	8611			AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.198C>T	chr5.hg19:g.54771139G>A			B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Silent	SNP	ENST00000307259.8	hg19	CCDS34159.1																																																																																				0.348	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1			A	54771139	G	A	54771139	2	1	7	1	0	0	0	0	0	0	0	1	12292	1281	45	2		2	PPAP2A	5	54771139	Silent	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10	38305485	54771139	126144121	12	560											
CMYA5	202333	hgsc.bcm.edu	37	5	79033639	79033639	+	Silent	SNP	A	A	G			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr5:79033639A>G	ENST00000446378.2	+	2	9082	c.9051A>G	c.(9049-9051)aaA>aaG	p.K3017K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3017					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCCCATTGAAAGAAAATAAAC	0.348																																																0													44	43	44					5																	79033639		1804	4068	5872	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9051A>G	chr5.hg19:g.79033639A>G			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	hg19	CCDS47238.1																																																																																				0.348	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79033639	A	G	79033639	2	3	7	1	0	0	0	0	0	0	0	1	3592	69	3	3		3	CMYA5	5	79033639	Silent	SNP	A	TCGA-2Z-A9J7-01A-11D-A382-10	24262500	79033639	101881621	13	561											
PCDHGC4	56098	hgsc.bcm.edu	37	5	140865299	140865299	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr5:140865299G>A	ENST00000306593.1	+	1	559	c.559G>A	c.(559-561)Gac>Aac	p.D187N	PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	187	Cadherin 2. {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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCGCAGCGACGGCAGCCT	0.557																																																0													39	43	42					5																	140865299		2203	4300	6503	SO:0001583	missense	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.559G>A	chr5.hg19:g.140865299G>A	ENSP00000306918:p.Asp187Asn		Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	hg19	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325972	0.60743	.	.	ENSG00000242419	ENST00000306593	T	0.19938	2.11	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.44603	0.1301	M	0.70275	2.135	0.30765	N	0.7436	D;D	0.89917	1.0;0.985	D;P	0.81914	0.995;0.804	T	0.42783	-0.9431	9	0.48119	T	0.1	.	12.8602	0.57910	0.0779:0.0:0.9221:0.0	.	187;187	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	N	187	ENSP00000306918:D187N	ENSP00000306918:D187N	D	+	1	0	PCDHGC4	140845483	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	3.383000	0.52471	2.596000	0.87737	0.561000	0.74099	GAC		0.557	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		A	140865299	G	A	140865299	3	1	7	1	0	0	0	0	1	0	0	0	11572	1058	37	1	561	1	PCDHGC4	5	140865299	Missense_Mutation	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10	61831660	140865299	40049961	14	562											
JAKMIP2	9832	hgsc.bcm.edu	37	5	147028036	147028036	+	Splice_Site	SNP	T	T	A			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr5:147028036T>A	ENST00000265272.5	-	5	1306	c.839A>T	c.(838-840)gAt>gTt	p.D280V	JAKMIP2_ENST00000333010.6_Splice_Site_p.D238V|JAKMIP2_ENST00000507386.1_Splice_Site_p.D280V	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	280						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCGCAAATCCTACAAAGA	0.323																																																0													127	122	124					5																	147028036		2202	4294	6496	SO:0001630	splice_region_variant	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.838-1A>T	chr5.hg19:g.147028036T>A			A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	hg19	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352623	0.82132	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.34072	1.38;1.38;1.38	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.60792	0.2296	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.65730	-0.6097	10	0.87932	D	0	.	15.5322	0.75974	0.0:0.0:0.0:1.0	.	238;280;280;280	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	V	280;280;238;280	ENSP00000421398:D280V;ENSP00000265272:D280V;ENSP00000328989:D238V	ENSP00000265272:D280V	D	-	2	0	JAKMIP2	147008229	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.481000	0.66826	2.127000	0.65507	0.482000	0.46254	GAT		0.323	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	Missense_Mutation	A	147028036	T	A	147028036	5	1	7	1	0	0	0	0	0	0	1	0	7943	1449	50	5	1661	5	JAKMIP2	5	147028036	Splice_Site	SNP	T	TCGA-2Z-A9J7-01A-11D-A382-10	6162737	147028036	33887224	15	563											
PEX6	5190	hgsc.bcm.edu	37	6	42946507	42946507	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr6:42946507C>T	ENST00000304611.8	-	1	451	c.382G>A	c.(382-384)Gga>Aga	p.G128R	PEX6_ENST00000244546.4_Missense_Mutation_p.G128R	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	128					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AGGGTCTCTCCGCGCCTCACC	0.761																																																0													2	3	3					6																	42946507		1580	3280	4860	SO:0001583	missense	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.382G>A	chr6.hg19:g.42946507C>T	ENSP00000303511:p.Gly128Arg		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	hg19	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372469	0.61624	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	D;D	0.98090	-4.15;-4.71	4.89	4.89	0.63831	.	0.000000	0.44902	D	0.000405	D	0.96012	0.8701	N	0.19112	0.55	0.42599	D	0.993279	D	0.71674	0.998	P	0.58077	0.832	D	0.96930	0.9680	10	0.87932	D	0	-9.8384	15.434	0.75129	0.0:1.0:0.0:0.0	.	128	Q13608	PEX6_HUMAN	R	128	ENSP00000303511:G128R;ENSP00000244546:G128R	ENSP00000244546:G128R	G	-	1	0	PEX6	43054485	1.000000	0.71417	0.998000	0.56505	0.027000	0.11550	2.230000	0.42999	2.709000	0.92574	0.650000	0.86243	GGA		0.761	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		T	42946507	C	T	42946507	3	4	7	1	0	0	0	0	1	0	0	0	11752	661	23	1	2628	1	PEX6	6	42946507	Missense_Mutation	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10		42946507	128168560	16	564											
MICAL1	64780	hgsc.bcm.edu	37	6	109771667	109771667	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr6:109771667G>T	ENST00000358807.3	-	8	1338	c.1027C>A	c.(1027-1029)Cat>Aat	p.H343N	MICAL1_ENST00000358577.3_Intron|MICAL1_ENST00000368952.4_Missense_Mutation_p.H362N|MICAL1_ENST00000483856.1_5'Flank	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	343	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCTTGCCATGGGTGGCAAAG	0.597																																																0													41	41	41					6																	109771667		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1027C>A	chr6.hg19:g.109771667G>T	ENSP00000351664:p.His343Asn		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	hg19	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	0.321	-0.961904	0.02249	.	.	ENSG00000135596	ENST00000358807;ENST00000368952	T;T	0.11495	2.77;2.77	4.5	1.46	0.22682	.	0.762737	0.12285	N	0.482545	T	0.00815	0.0027	N	0.00793	-1.18	0.50813	D	0.999894	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.50276	-0.8847	10	0.02654	T	1	.	11.6301	0.51168	0.0:0.0:0.3423:0.6577	.	362;343	B7Z3R5;Q8TDZ2	.;MICA1_HUMAN	N	343;362	ENSP00000351664:H343N;ENSP00000357948:H362N	ENSP00000351664:H343N	H	-	1	0	MICAL1	109878360	1.000000	0.71417	0.292000	0.24919	0.914000	0.54420	1.139000	0.31504	0.159000	0.19401	0.563000	0.77884	CAT		0.597	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		T	109771667	G	T	109771667	3	4	7	1	0	0	0	0	1	0	0	0	9571	1348	47	4	2248	4	MICAL1	6	109771667	Missense_Mutation	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10	66825160	109771667	61343400	17	565											
ITGB8	3696	hgsc.bcm.edu	37	7	20403321	20403321	+	Silent	SNP	A	A	G			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr7:20403321A>G	ENST00000222573.4	+	2	873	c.189A>G	c.(187-189)ccA>ccG	p.P63P	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	63					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CGCTGGGTCCAGAATGTGGAT	0.398																																																0													70	62	65					7																	20403321		2203	4299	6502	SO:0001819	synonymous_variant	3696				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.189A>G	chr7.hg19:g.20403321A>G			A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	hg19	CCDS5370.1																																																																																				0.398	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		G	20403321	A	G	20403321	2	3	7	1	0	0	0	0	0	0	0	1	7903	175	7	3		3	ITGB8	7	20403321	Silent	SNP	A	TCGA-2Z-A9J7-01A-11D-A382-10		20403321	138735342	18	566											
KLHL7	55975	hgsc.bcm.edu	37	7	23145688	23145688	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr7:23145688G>A	ENST00000339077.5	+	1	286	c.43G>A	c.(43-45)Gag>Aag	p.E15K	KLHL7_ENST00000322275.5_Missense_Mutation_p.E15K|KLHL7_ENST00000539124.1_5'UTR|KLHL7_ENST00000410047.1_5'Flank|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000409689.1_5'Flank|KLHL7_ENST00000545771.1_5'Flank|KLHL7_ENST00000322231.7_5'UTR|KLHL7-AS1_ENST00000419813.1_lincRNA	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	15					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAGAAGACCGAGAAGAAACT	0.602																																																0													60	49	53					7																	23145688		2202	4300	6502	SO:0001583	missense	55975				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.43G>A	chr7.hg19:g.23145688G>A	ENSP00000343273:p.Glu15Lys		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	hg19	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858661	0.71834	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000339077;ENST00000322275	T;T	0.73363	-0.52;-0.74	4.87	3.99	0.46301	.	0.059372	0.64402	D	0.000003	T	0.62073	0.2398	N	0.08118	0	0.80722	D	1	D;D	0.56521	0.976;0.964	P;P	0.50825	0.651;0.458	T	0.61332	-0.7084	10	0.23302	T	0.38	.	13.4923	0.61402	0.0757:0.0:0.9243:0.0	.	15;15	Q8IXQ5;Q8IXQ5-3	KLHL7_HUMAN;.	K	15	ENSP00000343273:E15K;ENSP00000323270:E15K	ENSP00000323270:E15K	E	+	1	0	KLHL7	23112213	1.000000	0.71417	0.956000	0.39512	0.600000	0.36913	5.114000	0.64648	1.409000	0.46915	0.591000	0.81541	GAG		0.602	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		A	23145688	G	A	23145688	3	1	7	1	0	0	0	0	1	0	0	0	8396	1059	37	1	45	1	KLHL7	7	23145688	Missense_Mutation	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10	2742367	23145688	135992975	19	567											
GRM3	2913	hgsc.bcm.edu	37	7	86469144	86469144	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr7:86469144G>A	ENST00000361669.2	+	4	3413	c.2314G>A	c.(2314-2316)Ggt>Agt	p.G772S	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.G364S|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G644S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	772					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TAAGTTCATAGGTTTTACCAT	0.418																																					GBM(52;969 1098 3139 52280)											0													124	113	117					7																	86469144		2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2314G>A	chr7.hg19:g.86469144G>A	ENSP00000355316:p.Gly772Ser		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	hg19	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573564	0.86542	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89050	-2.46;-2.46;-2.46	5.54	5.54	0.83059	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94512	0.8233	M	0.78916	2.43	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.995	D;D;D	0.75484	0.986;0.965;0.979	D	0.94683	0.7867	10	0.66056	D	0.02	.	18.4662	0.90755	0.0:0.0:1.0:0.0	.	364;644;772	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	S	772;364;644	ENSP00000355316:G772S;ENSP00000444064:G364S;ENSP00000441407:G644S	ENSP00000355316:G772S	G	+	1	0	GRM3	86307080	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.603000	0.88011	0.563000	0.77884	GGT		0.418	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86469144	G	A	86469144	3	1	7	1	0	0	0	0	1	0	0	0	6800	1000	35	2	2324	2	GRM3	7	86469144	Missense_Mutation	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10	63323456	86469144	72669519	20	568											
MUC17	140453	hgsc.bcm.edu	37	7	100681533	100681533	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr7:100681533C>A	ENST00000306151.4	+	3	6900	c.6836C>A	c.(6835-6837)aCt>aAt	p.T2279N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2279	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGAACGACTCCATTAACA	0.478																																																0																																										SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6836C>A	chr7.hg19:g.100681533C>A	ENSP00000302716:p.Thr2279Asn		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.491	-0.317530	0.05386	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	0.762	0.762	0.18454	.	.	.	.	.	T	0.03390	0.0098	N	0.19112	0.55	0.09310	N	1	P	0.51933	0.949	P	0.51297	0.665	T	0.49679	-0.8914	9	0.35671	T	0.21	.	6.9517	0.24548	0.0:0.9999:0.0:1.0E-4	.	2279	Q685J3	MUC17_HUMAN	N	2279	ENSP00000302716:T2279N	ENSP00000302716:T2279N	T	+	2	0	MUC17	100468253	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.068000	0.14531	0.132000	0.18615	0.134000	0.15878	ACT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100681533	C	A	100681533	3	1	7	1	0	0	0	0	1	0	0	0	9976	565	20	4	6846	4	MUC17	7	100681533	Missense_Mutation	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10	14212389	100681533	58457130	21	569											
CUL1	8454	hgsc.bcm.edu	37	7	148484199	148484199	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr7:148484199T>G	ENST00000325222.4	+	13	1745	c.1466T>G	c.(1465-1467)aTc>aGc	p.I489S	CUL1_ENST00000409469.1_Missense_Mutation_p.I489S|CUL1_ENST00000602748.1_Missense_Mutation_p.I489S	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	489					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCAGCATGATCTCCAAGTTA	0.468																																																0													75	70	72					7																	148484199		2203	4300	6503	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1466T>G	chr7.hg19:g.148484199T>G	ENSP00000326804:p.Ile489Ser		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	hg19	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349001	0.82132	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.79749	-1.3;-1.3	5.5	5.5	0.81552	Cullin, N-terminal (1);Cullin homology (3);	0.046639	0.85682	D	0.000000	D	0.92883	0.7736	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	D	0.95044	0.8181	10	0.87932	D	0	0.0152	15.6219	0.76813	0.0:0.0:0.0:1.0	.	416;489	E7EWR0;Q13616	.;CUL1_HUMAN	S	489;489;447;416	ENSP00000387160:I489S;ENSP00000326804:I489S	ENSP00000326804:I489S	I	+	2	0	CUL1	148115132	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.746000	0.85057	2.098000	0.63641	0.533000	0.62120	ATC		0.468	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		G	148484199	T	G	148484199	3	3	7	1	0	0	0	0	1	0	0	0	4056	1435	50	5	1512	5	CUL1	7	148484199	Missense_Mutation	SNP	T	TCGA-2Z-A9J7-01A-11D-A382-10	47802666	148484199	10654464	22	570											
OPLAH	26873	hgsc.bcm.edu	37	8	145112996	145112996	+	Silent	SNP	G	G	A			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr8:145112996G>A	ENST00000426825.1	-	8	1086	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	335					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTGTGCTGGCCTCGAAGA	0.657																																																0													43	51	48					8																	145112996		2054	4182	6236	SO:0001819	synonymous_variant	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1005C>T	chr8.hg19:g.145112996G>A			A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	hg19																																																																																					0.657	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		A	145112996	G	A	145112996	2	1	7	1	0	0	0	0	0	0	0	1	10878	1335	47	2		2	OPLAH	8	145112996	Silent	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10		145112996	1251026	23	571											
PTPRD	5789	hgsc.bcm.edu	37	9	8486309	8486309	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr9:8486309C>T	ENST00000381196.4	-	25	3051	c.2508G>A	c.(2506-2508)atG>atA	p.M836I	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.M836I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M836I|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.M823I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M814I|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	836	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.M836I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGCAGTATTCATCTGAGTGT	0.483										TSP Lung(15;0.13)																																						1	Substitution - Missense(1)	skin(1)											73	71	72					9																	8486309		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2508G>A	chr9.hg19:g.8486309C>T	ENSP00000370593:p.Met836Ile		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	hg19	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059631	0.55325	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	L	0.36672	1.1	0.80722	D	1	B;P;B	0.37573	0.397;0.6;0.137	B;B;B	0.39299	0.138;0.296;0.216	T	0.32508	-0.9904	9	.	.	.	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	823;836;836	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	I	836;836;823;814;836	ENSP00000370593:M836I;ENSP00000348812:M836I;ENSP00000353187:M823I;ENSP00000351293:M814I;ENSP00000438164:M836I	.	M	-	3	0	PTPRD	8476309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	ATG		0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8486309	C	T	8486309	3	4	7	1	0	0	0	0	1	0	0	0	12805	826	29	2	3374	2	PTPRD	9	8486309	Missense_Mutation	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10		8486309	132727122	24	572											
CACNA1B	774	hgsc.bcm.edu	37	9	140904505	140904505	+	Silent	SNP	G	G	C			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr9:140904505G>C	ENST00000371372.1	+	17	2281	c.2136G>C	c.(2134-2136)ctG>ctC	p.L712L	CACNA1B_ENST00000277551.2_Silent_p.L712L|CACNA1B_ENST00000371363.1_Silent_p.L712L|CACNA1B_ENST00000277550.3_Silent_p.L3L|CACNA1B_ENST00000371355.4_Silent_p.L713L|CACNA1B_ENST00000371357.1_Silent_p.L713L|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	712					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGACAACCTGGCCAACGCCC	0.607																																																0													71	75	74					9																	140904505		2160	4269	6429	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2136G>C	chr9.hg19:g.140904505G>C			B1AQK5	Silent	SNP	ENST00000371372.1	hg19	CCDS59522.1																																																																																				0.607	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		C	140904505	G	C	140904505	2	2	7	1	0	0	0	0	0	0	0	1	2541	1335	47	4		4	CACNA1B	9	140904505	Silent	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10	132418196	140904505	308926	25	573											
CACNA1B	774	hgsc.bcm.edu	37	9	140918184	140918185	+	Missense_Mutation	DNP	AC	AC	GT	rs145816559|rs370787788	byFrequency	TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr9:140918184_140918185AC>GT	ENST00000371372.1	+	19	3134_3135	c.2989_2990AC>GT	c.(2989-2991)ACg>GTg	p.T997V	CACNA1B_ENST00000277551.2_Missense_Mutation_p.T997V|CACNA1B_ENST00000371367.5_5'UTR|CACNA1B_ENST00000545473.1_5'Flank|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T997V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T998V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T998V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.T189V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	997					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.T996_E1000delTTEKE(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGGAGACCACGGAGAAGGAG	0.718																																																1	Deletion - In frame(1)	breast(1)																																								SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	Exception_encountered	chr9.hg19:g.140918184_140918185delinsGT	ENSP00000360423:p.Thr997Val		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	hg19	CCDS59522.1																																																																																				0.718	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		GT	140918185	AC	GT	140918184	3	3	7	1	0	0	0	0	1	0	0	0	2541	159	6	3	3063	3	CACNA1B	9	140918184	Missense_Mutation	DNP	AC	TCGA-2Z-A9J7-01A-11D-A382-10	13679	140918184	295247	26	574											
CUBN	8029	hgsc.bcm.edu	37	10	16967343	16967343	+	Silent	SNP	T	T	C			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr10:16967343T>C	ENST00000377833.4	-	43	6608	c.6543A>G	c.(6541-6543)tcA>tcG	p.S2181S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2181	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAGAGTTGATGAAGCATGAC	0.388																																																0													69	69	69					10																	16967343		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6543A>G	chr10.hg19:g.16967343T>C			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	hg19	CCDS7113.1																																																																																				0.388	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	16967343	T	C	16967343	2	2	7	1	0	0	0	0	0	0	0	1	4053	1451	51	3		3	CUBN	10	16967343	Silent	SNP	T	TCGA-2Z-A9J7-01A-11D-A382-10		16967343	118567404	27	575											
ADD3	120	hgsc.bcm.edu	37	10	111884029	111884029	+	Silent	SNP	C	C	T			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr10:111884029C>T	ENST00000356080.4	+	10	1765	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	ADD3_ENST00000277900.8_Silent_p.I466I|ADD3_ENST00000360162.3_Silent_p.I466I	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	466						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAACCAAAATCACGGTATGCC	0.363																																																0													81	80	80					10																	111884029		2203	4300	6503	SO:0001819	synonymous_variant	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1398C>T	chr10.hg19:g.111884029C>T			D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	ENST00000356080.4	hg19	CCDS7561.1																																																																																				0.363	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		T	111884029	C	T	111884029	2	4	7	1	0	0	0	0	0	0	0	1	306	816	29	2		2	ADD3	10	111884029	Silent	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10	94916686	111884029	23650718	28	576											
SAA4	6291	hgsc.bcm.edu	37	11	18254055	18254055	+	Silent	SNP	A	A	G			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr11:18254055A>G	ENST00000278222.4	-	3	297	c.117T>C	c.(115-117)taT>taC	p.Y39Y	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	39					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						TTATGTCCCAATAGGCTCTGC	0.438																																																0													143	142	142					11																	18254055		2199	4293	6492	SO:0001819	synonymous_variant	100528017			M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.117T>C	chr11.hg19:g.18254055A>G			Q6FHJ4	Silent	SNP	ENST00000278222.4	hg19	CCDS7832.1																																																																																				0.438	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1	NM_006512		G	18254055	A	G	18254055	2	3	7	1	0	0	0	0	0	0	0	1	13806	108	4	3		3	SAA4	11	18254055	Silent	SNP	A	TCGA-2Z-A9J7-01A-11D-A382-10		18254055	116752461	29	577											
KRTAP5-9	3846	hgsc.bcm.edu	37	11	71259971	71260114	+	In_Frame_Del	DEL	TCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACTGCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	TCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACTGCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	-	rs200171268|rs202087444|rs569788113|rs543172155|rs371997244|rs535053140|rs200091258|rs114705722|rs201275630|rs35547146|rs202236982|rs372250247|rs564532132|rs369827874|rs546472579|rs117137984|rs531897567|rs200956303|rs267603173|rs572772724|rs61746411|rs367545102|rs557667941	byFrequency	TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	TCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACTGCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	TCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACTGCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr11:71259971_71260114delTCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACTGCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	ENST00000528743.2	+	1	506_649	c.268_411delTCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACTGCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	c.(268-411)tcaggctgtgggtcatcctgctgccagtgcagctgctgcaagccctactgctcccagtgcagctgctgtaagccctgttgctcctcctcgggtcgtgggtcatcctgctgccaatccagctgctgcaagccctgctgctcatccdel	p.SGCGSSCCQCSCCKPYCSQCSCCKPCCSSSGRGSSCCQSSCCKPCCSS90del		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	90	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.S119S(1)|p.K103M(1)|p.C97F(1)|p.C130Y(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CTGTTGCTCTTCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACTGCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCCTCAGGCTGTG	0.622																																																4	Substitution - Missense(3)|Substitution - coding silent(1)	lung(3)|prostate(1)																																								SO:0001651	inframe_deletion	3846			AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.268_411delTCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACTGCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	chr11.hg19:g.71259971_71260114delTCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACTGCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	ENSP00000431443:p.Ser90_Ser137del		Q14564|Q3MIP8	In_Frame_Del	DEL	ENST00000528743.2	hg19	CCDS53677.1																																																																																				0.622	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			-	71260114	TCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACTGCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	-	71259971	7	5	7	1	0	1	0	1	0	0	0	0	8570	1783	62	0	270	0	KRTAP5-9	11	71259971	In_Frame_Del	DEL	TCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACTGCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	TCGA-2Z-A9J7-01A-11D-A382-10	53005916	71259971	63746545	30	578											
BRCA2	675	hgsc.bcm.edu	37	13	32910939	32910939	+	Missense_Mutation	SNP	A	A	G	rs80359331		TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr13:32910939A>G	ENST00000380152.3	+	11	2680	c.2447A>G	c.(2446-2448)gAa>gGa	p.E816G	BRCA2_ENST00000544455.1_Missense_Mutation_p.E816G			P51587	BRCA2_HUMAN	breast cancer 2, early onset	816	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTCCCATGGAAAAGAATCAA	0.328			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													52	56	55					13																	32910939		2203	4296	6499	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2447A>G	chr13.hg19:g.32910939A>G	ENSP00000369497:p.Glu816Gly		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	hg19	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	5.922	0.354207	0.11182	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.72051	-0.62;-0.62	5.43	1.47	0.22746	.	1.104510	0.06758	N	0.781238	T	0.55689	0.1936	L	0.29908	0.895	0.09310	N	1	B	0.22276	0.067	B	0.17433	0.018	T	0.36114	-0.9761	10	0.27785	T	0.31	.	5.4273	0.16433	0.5898:0.1389:0.2713:0.0	.	816	P51587	BRCA2_HUMAN	G	816	ENSP00000369497:E816G;ENSP00000439902:E816G	ENSP00000369497:E816G	E	+	2	0	BRCA2	31808939	0.000000	0.05858	0.003000	0.11579	0.089000	0.18198	0.028000	0.13644	0.020000	0.15106	0.482000	0.46254	GAA		0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		G	32910939	A	G	32910939	3	3	7	1	0	0	0	0	1	0	0	0	1501	246	9	3	2485	3	BRCA2	13	32910939	Missense_Mutation	SNP	A	TCGA-2Z-A9J7-01A-11D-A382-10		32910939	82258939	31	579											
HOMEZ	57594	hgsc.bcm.edu	37	14	23744832	23744832	+	Silent	SNP	C	C	T			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr14:23744832C>T	ENST00000357460.5	-	2	1769	c.1605G>A	c.(1603-1605)gaG>gaA	p.E535E	HOMEZ_ENST00000431326.2_Silent_p.E537E|HOMEZ_ENST00000561013.1_Silent_p.E537E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	535	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		catcttcctcctcctcctcct	0.483																																																0													38	38	38					14																	23744832		2192	4269	6461	SO:0001819	synonymous_variant	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1605G>A	chr14.hg19:g.23744832C>T			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	hg19	CCDS45085.1																																																																																				0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		T	23744832	C	T	23744832	2	4	7	1	0	0	0	0	0	0	0	1	7283	680	24	2		2	HOMEZ	14	23744832	Silent	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10		23744832	83604708	32	580											
MFAP1	4236	hgsc.bcm.edu	37	15	44106734	44106734	+	Silent	SNP	C	C	T			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr15:44106734C>T	ENST00000267812.3	-	4	814	c.582G>A	c.(580-582)gaG>gaA	p.E194E		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	194					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GAGGCTCCATCTCATCTTCAC	0.453																																																0													229	214	219					15																	44106734		2198	4298	6496	SO:0001819	synonymous_variant	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.582G>A	chr15.hg19:g.44106734C>T			Q86TG6	Silent	SNP	ENST00000267812.3	hg19	CCDS10105.1																																																																																				0.453	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		T	44106734	C	T	44106734	2	4	7	1	0	0	0	0	0	0	0	1	9515	912	32	2		2	MFAP1	15	44106734	Silent	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10		44106734	58424658	33	581											
LCTL	197021	hgsc.bcm.edu	37	15	66856303	66856303	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr15:66856303T>A	ENST00000341509.5	-	3	447	c.316A>T	c.(316-318)Aac>Tac	p.N106Y	LCTL_ENST00000537670.1_5'UTR|LCTL_ENST00000563438.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	106					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGTAGTGGTTGACGTGCAGT	0.632																																																0													146	126	133					15																	66856303		2201	4299	6500	SO:0001583	missense	197021			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.316A>T	chr15.hg19:g.66856303T>A	ENSP00000343490:p.Asn106Tyr		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	hg19	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762455	0.49574	.	.	ENSG00000188501	ENST00000341509	T	0.34472	1.36	5.21	4.06	0.47325	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.375249	0.35207	N	0.003378	T	0.40956	0.1138	M	0.83692	2.655	0.80722	D	1	B	0.33826	0.427	B	0.33799	0.17	T	0.40534	-0.9558	10	0.87932	D	0	-12.579	8.7922	0.34857	0.3018:0.0:0.0:0.6982	.	106	Q6UWM7	LCTL_HUMAN	Y	106	ENSP00000343490:N106Y	ENSP00000343490:N106Y	N	-	1	0	LCTL	64643357	0.884000	0.30299	0.353000	0.25747	0.919000	0.55068	3.436000	0.52856	0.900000	0.36469	0.379000	0.24179	AAC		0.632	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		A	66856303	T	A	66856303	3	1	7	1	0	0	0	0	1	0	0	0	8696	1812	63	5	1431	5	LCTL	15	66856303	Missense_Mutation	SNP	T	TCGA-2Z-A9J7-01A-11D-A382-10	22749569	66856303	35675089	34	582											
CFDP1	10428	hgsc.bcm.edu	37	16	75327931	75327951	+	Splice_Site	DEL	TTCAATGTACCTAGAAGATGA	TTCAATGTACCTAGAAGATGA	-	rs375111551		TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	TTCAATGTACCTAGAAGATGA	TTCAATGTACCTAGAAGATGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr16:75327931_75327951delTTCAATGTACCTAGAAGATGA	ENST00000283882.3	-	7	942_951	c.810_819delTCATCTTCTAGGTACATTGAA	c.(808-819)ggtcatcttcta>gg	p.GHLL270del		NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	270	BCNT-C. {ECO:0000255|PROSITE- ProRule:PRU00610}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						AGGCTTTCCGTTCAATGTACCTAGAAGATGAAAACAGTGTT	0.457																																																0																																										SO:0001630	splice_region_variant	10428			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"Bucentaur", "centromere protein 29"	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.810-1TCATCTTCTAGGTACATTGAA>-	chr16.hg19:g.75327931_75327951delTTCAATGTACCTAGAAGATGA			O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Frame_Shift_Del	DEL	ENST00000283882.3	hg19	CCDS10916.1																																																																																				0.457	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269031.2	NM_006324	In_Frame_Del	-	75327951	TTCAATGTACCTAGAAGATGA	-	75327931	8	5	7	1	0	1	0	1	0	0	1	0	3284	1722	60	0	84	0	CFDP1	16	75327931	Splice_Site	DEL	TTCAATGTACCTAGAAGATGA	TCGA-2Z-A9J7-01A-11D-A382-10		75327931	15026822	35	583											
CDH13	1012	hgsc.bcm.edu	37	16	83378492	83378492	+	Missense_Mutation	SNP	A	A	G	rs374048975		TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr16:83378492A>G	ENST00000566620.1	+	6	952	c.662A>G	c.(661-663)aAt>aGt	p.N221S	CDH13_ENST00000428848.3_Missense_Mutation_p.N182S|CDH13_ENST00000268613.10_Missense_Mutation_p.N268S|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	221	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACTGATGTCAATGGCAAAACT	0.448																																																0													79	81	81					16																	83378492		1855	4088	5943	SO:0001583	missense	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.662A>G	chr16.hg19:g.83378492A>G	ENSP00000454435:p.Asn221Ser		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	hg19	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115445	0.37339	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.60548	0.18	5.76	0.716	0.18191	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35508	0.0934	N	0.05510	-0.035	0.58432	D	0.999997	B;B;B	0.23185	0.081;0.0;0.001	B;B;B	0.30251	0.113;0.008;0.004	T	0.08554	-1.0716	9	0.41790	T	0.15	.	8.7915	0.34854	0.483:0.0:0.517:0.0	.	182;268;221	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	S	268;221;182	ENSP00000268613:N268S	ENSP00000268613:N268S	N	+	2	0	CDH13	81935993	0.228000	0.23718	0.573000	0.28510	0.906000	0.53458	0.515000	0.22801	0.193000	0.20303	0.533000	0.62120	AAT		0.448	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		G	83378492	A	G	83378492	3	3	7	1	0	0	0	0	1	0	0	0	3101	101	4	3	684	3	CDH13	16	83378492	Missense_Mutation	SNP	A	TCGA-2Z-A9J7-01A-11D-A382-10	8050561	83378492	6976261	36	584											
ACSF3	197322	hgsc.bcm.edu	37	16	89167635	89167635	+	Silent	SNP	G	G	T			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr16:89167635G>T	ENST00000317447.4	+	3	923	c.546G>T	c.(544-546)ccG>ccT	p.P182P	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Silent_p.P182P	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	182					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TAGAGGAACCGGCAGAGGTCC	0.657																																																0													16	13	14					16																	89167635		2196	4299	6495	SO:0001819	synonymous_variant	197322			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.546G>T	chr16.hg19:g.89167635G>T			A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	ENST00000317447.4	hg19	CCDS10974.1																																																																																				0.657	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		T	89167635	G	T	89167635	2	4	7	1	0	0	0	0	0	0	0	1	176	1103	39	4		4	ACSF3	16	89167635	Silent	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10	5789143	89167635	1187118	37	585											
MPRIP	23164	hgsc.bcm.edu	37	17	17039564	17039564	+	Missense_Mutation	SNP	G	G	C	rs3833098|rs113250356|rs35599326|rs202138172	byFrequency	TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr17:17039564G>C	ENST00000341712.4	+	6	536	c.536G>C	c.(535-537)aGc>aCc	p.S179T	MPRIP_ENST00000395804.3_Missense_Mutation_p.S179T|MPRIP_ENST00000395811.5_Missense_Mutation_p.S179T|MPRIP_ENST00000444976.1_Missense_Mutation_p.S179T			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	179	Interaction with F-actin. {ECO:0000250}.|Ser-rich.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.S189delS(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCTGTTACcagcagcagcagc	0.597																																																1	Deletion - In frame(1)	kidney(1)											22	22	22					17																	17039564		2203	4295	6498	SO:0001583	missense	23164			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.536G>C	chr17.hg19:g.17039564G>C	ENSP00000342379:p.Ser179Thr		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	hg19	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519798	0.27211	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	2.12	2.12	0.27331	.	.	.	.	.	D	0.90566	0.7043	L	0.34521	1.04	0.29751	N	0.836355	P;P	0.51933	0.949;0.61	P;B	0.50659	0.647;0.135	D	0.85374	0.1115	9	0.52906	T	0.07	.	7.7647	0.28972	0.0:0.0:1.0:0.0	.	179;179	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	T	179	ENSP00000400189:S179T;ENSP00000379156:S179T;ENSP00000379149:S179T;ENSP00000342379:S179T	ENSP00000342379:S179T	S	+	2	0	MPRIP	16980289	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.655000	0.46707	1.509000	0.48786	0.591000	0.81541	AGC		0.597	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		C	17039564	G	C	17039564	3	2	7	1	0	0	0	0	1	0	0	0	9745	971	34	4	558	4	MPRIP	17	17039564	Missense_Mutation	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10		17039564	64155646	38	586											
ATP5G1	516	hgsc.bcm.edu	37	17	46973049	46973049	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr17:46973049A>C	ENST00000393366.2	+	5	432	c.329A>C	c.(328-330)tAt>tCt	p.Y110S	RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000355938.5_Missense_Mutation_p.Y110S|ATP5G1_ENST00000503641.1_Missense_Mutation_p.Y101S|ATP5G1_ENST00000506855.1_Missense_Mutation_p.Y84S|ATP5G1_ENST00000513781.1_3'UTR	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	110					ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			liver(1)|lung(1)	2						CTCTTCTCCTATGCCATTCTT	0.582																																																0													205	184	191					17																	46973049		2203	4300	6503	SO:0001583	missense	516			D13118	CCDS11539.1	17q21.32	2012-10-12	2010-06-11		ENSG00000159199	ENSG00000159199		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	841	protein-coding gene	gene with protein product		603192	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)"	ATP5G		8328972	Standard	NM_005175		Approved		uc002ioh.3	P05496	OTTHUMG00000160520	ENST00000393366.2:c.329A>C	chr17.hg19:g.46973049A>C	ENSP00000377033:p.Tyr110Ser			Missense_Mutation	SNP	ENST00000393366.2	hg19	CCDS11539.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469812	0.84533	.	.	ENSG00000159199	ENST00000355938;ENST00000503641;ENST00000393366;ENST00000506855	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.64	4.64	0.57946	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	L	0.61036	1.89	0.80722	D	1	B	0.29136	0.234	B	0.37047	0.24	T	0.53251	-0.8465	10	0.87932	D	0	-6.5187	13.8811	0.63682	1.0:0.0:0.0:0.0	.	110	P05496	AT5G1_HUMAN	S	110;101;110;84	ENSP00000348205:Y110S;ENSP00000426094:Y101S;ENSP00000377033:Y110S;ENSP00000422950:Y84S	ENSP00000348205:Y110S	Y	+	2	0	ATP5G1	44328048	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.139000	0.94554	1.951000	0.56629	0.454000	0.30748	TAT		0.582	ATP5G1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360948.2	NM_005175		C	46973049	A	C	46973049	3	2	7	1	0	0	0	0	1	0	0	0	1153	449	16	5	343	5	ATP5G1	17	46973049	Missense_Mutation	SNP	A	TCGA-2Z-A9J7-01A-11D-A382-10	29933485	46973049	34222161	39	587											
CLTC	1213	hgsc.bcm.edu	37	17	57742269	57742269	+	Splice_Site	SNP	A	A	G			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr17:57742269A>G	ENST00000269122.3	+	10	1917	c.1643A>G	c.(1642-1644)cAg>cGg	p.Q548R	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Splice_Site_p.Q548R	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	548	Distal segment.|Heavy chain arm.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GACATCACACAGGTAATGTGA	0.433			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													88	84	85					17																	57742269		2203	4300	6503	SO:0001630	splice_region_variant	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1644+1A>G	chr17.hg19:g.57742269A>G			D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	hg19	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.265813	0.59540	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.17528	2.27;2.27	5.45	5.45	0.79879	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	L	0.42686	1.345	0.80722	D	1	P;B	0.49185	0.92;0.0	D;B	0.71870	0.975;0.01	T	0.02933	-1.1092	10	0.13108	T	0.6	.	15.8028	0.78468	1.0:0.0:0.0:0.0	.	548;548	Q00610;Q00610-2	CLH1_HUMAN;.	R	548	ENSP00000269122:Q548R;ENSP00000376763:Q548R	ENSP00000269122:Q548R	Q	+	2	0	CLTC	55097051	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.287000	0.95975	2.196000	0.70406	0.460000	0.39030	CAG		0.433	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	Missense_Mutation	G	57742269	A	G	57742269	5	3	7	1	0	0	0	0	0	0	1	0	3568	202	7	3	1681	3	CLTC	17	57742269	Splice_Site	SNP	A	TCGA-2Z-A9J7-01A-11D-A382-10	10769220	57742269	23452941	40	588											
USP36	57602	hgsc.bcm.edu	37	17	76803450	76803450	+	Missense_Mutation	SNP	G	G	A	rs532327037		TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr17:76803450G>A	ENST00000542802.3	-	14	2119	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	USP36_ENST00000312010.6_Missense_Mutation_p.S559L|USP36_ENST00000449938.2_Missense_Mutation_p.S259L|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	559					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCTGCTATTCGAGTTGCTGGT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17767	0.001		0.0	False		,,,				2504	0.0															0													51	52	52					17																	76803450		2203	4300	6503	SO:0001583	missense	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1676C>T	chr17.hg19:g.76803450G>A	ENSP00000441214:p.Ser559Leu		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	hg19	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466850	0.26335	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.18810	3.24;2.19;3.24	4.16	-6.85	0.01681	.	2.812930	0.01095	N	0.005268	T	0.12433	0.0302	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.04013	0.001;0.001	T	0.15983	-1.0418	10	0.22706	T	0.39	4.049	6.0048	0.19541	0.4716:0.2424:0.2859:0.0	.	559;559	Q9P275;Q9P275-2	UBP36_HUMAN;.	L	559;259;559	ENSP00000310590:S559L;ENSP00000401119:S259L;ENSP00000441214:S559L	ENSP00000310590:S559L	S	-	2	0	USP36	74315045	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.389000	0.02530	-1.303000	0.02332	-0.258000	0.10820	TCG		0.582	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		A	76803450	G	A	76803450	3	1	7	1	0	0	0	0	1	0	0	0	17072	1059	37	1	1723	1	USP36	17	76803450	Missense_Mutation	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10	19061181	76803450	4391760	41	589											
ZNF180	7733	hgsc.bcm.edu	37	19	44988631	44988631	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr19:44988631G>C	ENST00000221327.4	-	3	429	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	ZNF180_ENST00000586637.1_Nonsense_Mutation_p.S59*|ZNF180_ENST00000592529.1_Missense_Mutation_p.Q23E|ZNF180_ENST00000587047.1_Silent_p.L51L|ZNF180_ENST00000585514.1_5'UTR|ZNF180_ENST00000391956.4_Intron	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q50E(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATAATCTCTTGAGGAAGGAAA	0.463																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)											1	Substitution - Missense(1)	endometrium(1)											81	75	77					19																	44988631		2203	4300	6503	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.148C>G	chr19.hg19:g.44988631G>C	ENSP00000221327:p.Gln50Glu		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	hg19	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787995	0.31593	.	.	ENSG00000167384	ENST00000221327	T	0.07567	3.18	3.62	2.56	0.30785	.	0.229752	0.22273	N	0.062227	T	0.04998	0.0134	N	0.19112	0.55	0.80722	D	1	B;B	0.15930	0.015;0.015	B;B	0.11329	0.006;0.006	T	0.36890	-0.9729	10	0.15066	T	0.55	-9.8046	9.1823	0.37149	0.0:0.2219:0.7781:0.0	.	49;50	Q58F03;Q9UJW8	.;ZN180_HUMAN	E	50	ENSP00000221327:Q50E	ENSP00000221327:Q50E	Q	-	1	0	ZNF180	49680471	1.000000	0.71417	0.933000	0.37362	0.963000	0.63663	3.520000	0.53465	1.084000	0.41184	0.650000	0.86243	CAA		0.463	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		C	44988631	G	C	44988631	3	2	7	1	0	0	0	0	1	0	0	0	17753	1299	45	4	1942	4	ZNF180	19	44988631	Missense_Mutation	SNP	G	TCGA-2Z-A9J7-01A-11D-A382-10		44988631	14140352	42	590											
LILRB1	10859	hgsc.bcm.edu	37	19	55148104	55148105	+	Splice_Site	DEL	GT	GT	-	rs201250339	byFrequency	TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr19:55148104_55148105delGT	ENST00000396331.1	+	15	2163		c.e15+1		LILRB1_ENST00000462628.1_Splice_Site|LILRB1_ENST00000396332.4_Splice_Site|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000324602.7_Splice_Site|LILRB1_ENST00000396327.3_Splice_Site|LILRB1_ENST00000434867.2_Splice_Site|LILRB1_ENST00000396315.1_Splice_Site|LILRB1_ENST00000418536.2_Splice_Site|LILRB1_ENST00000396321.2_Splice_Site|LILRB1_ENST00000396317.1_Splice_Site|LILRB1_ENST00000448689.1_Splice_Site|LILRB1_ENST00000427581.2_Splice_Site	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1						cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGACACTGAGGTGAGTCCTTTC	0.619										HNSCC(37;0.09)																																						0																																										SO:0001630	splice_region_variant	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1806+1GT>-	chr19.hg19:g.55148104_55148105delGT			A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Frame_Shift_Del	DEL	ENST00000396331.1	hg19	CCDS42617.1																																																																																				0.619	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		Intron	-	55148105	GT	-	55148104	8	5	7	1	0	1	0	1	0	0	1	0	8792	1275	44	0	1863	0	LILRB1	19	55148104	Splice_Site	DEL	GT	TCGA-2Z-A9J7-01A-11D-A382-10	10159473	55148104	3980879	43	591											
UQCR10	29796	hgsc.bcm.edu	37	22	30163499	30163499	+	Nonsense_Mutation	SNP	C	C	T	rs377432442		TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chr22:30163499C>T	ENST00000330029.6	+	1	142	c.112C>T	c.(112-114)Caa>Taa	p.Q38*	UQCR10_ENST00000401406.3_Nonsense_Mutation_p.Q38*|ZMAT5_ENST00000344318.3_5'Flank|ZMAT5_ENST00000397781.3_5'Flank	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	38					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						CGCCTTCGATCAAGGCGCGGA	0.602																																																0													41	47	45					22																	30163499		2010	4167	6177	SO:0001587	stop_gained	29796			AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"Mitochondrial respiratory chain complex / Complex III"	30863	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa", "complex III subunit 9"	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.112C>T	chr22.hg19:g.30163499C>T	ENSP00000332887:p.Gln38*		B5MCM5|Q9T2V6	Nonsense_Mutation	SNP	ENST00000330029.6	hg19	CCDS46680.1	.	.	.	.	.	.	.	.	.	.	C	36	5.758193	0.96898	.	.	ENSG00000184076	ENST00000330029;ENST00000401406;ENST00000406782	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	1.1857	15.4576	0.75327	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000332887:Q38X	Q	+	1	0	UQCR10	28493499	1.000000	0.71417	0.991000	0.47740	0.874000	0.50279	6.063000	0.71162	2.720000	0.93068	0.558000	0.71614	CAA		0.602	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387		T	30163499	C	T	30163499	4	4	7	1	0	0	0	0	0	1	0	0	17021	827	29	2	114	2	UQCR10	22	30163499	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10		30163499	21141067	44	592											
PLCXD1	55344	hgsc.bcm.edu	37	X	205414	205414	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chrX:205414A>C	ENST00000381657.2	+	3	656	c.142A>C	c.(142-144)Atg>Ctg	p.M48L	PLCXD1_ENST00000399012.1_Missense_Mutation_p.M48L|PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000381663.3_Missense_Mutation_p.M48L	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	48	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCACGACACGATGACGTACTG	0.627																																																0													348	270	296					X																	205414		2203	4296	6499	SO:0001583	missense	55344			AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.142A>C	chrX.hg19:g.205414A>C	ENSP00000371073:p.Met48Leu		A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	hg19	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	11.38	1.622626	0.28889	.	.	ENSG00000182378	ENST00000399012;ENST00000430923;ENST00000445062;ENST00000381657;ENST00000429181;ENST00000381663;ENST00000443019;ENST00000415337;ENST00000447472;ENST00000448477	.	.	.	1.79	1.79	0.24919	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.132030	0.64402	D	0.000002	T	0.36331	0.0963	.	.	.	0.09310	N	1	D	0.59357	0.985	P	0.61070	0.883	T	0.20240	-1.0281	8	0.11182	T	0.66	-50.3823	5.6988	0.17871	1.0:0.0:0.0:0.0	.	48	Q9NUJ7	PLCX1_HUMAN	L	48	.	ENSP00000371073:M48L	M	+	1	0	PLCXD1	145414	0.996000	0.38824	0.416000	0.26546	0.619000	0.37552	3.400000	0.52594	0.552000	0.29026	0.320000	0.21374	ATG		0.627	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		C	205414	A	C	205414	3	2	7	1	0	0	0	0	1	0	0	0	12043	333	12	5	148	5	PLCXD1	23	205414	Missense_Mutation	SNP	A	TCGA-2Z-A9J7-01A-11D-A382-10		205414	155065146	45	593											
NRK	203447	hgsc.bcm.edu	37	X	105179166	105179166	+	Nonsense_Mutation	SNP	C	C	A	rs56273831		TCGA-2Z-A9J7-01A-11D-A382-10	TCGA-2Z-A9J7-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f706942e-5a4c-4299-bbb2-7da02d8f774d	29721c4c-1077-4ae3-9583-4d7cd96257fe	g.chrX:105179166C>A	ENST00000243300.9	+	21	3807	c.3504C>A	c.(3502-3504)taC>taA	p.Y1168*	NRK_ENST00000428173.2_Nonsense_Mutation_p.Y1169*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1168					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTGCAGTATACGCTGGATTCG	0.383										HNSCC(51;0.14)																																						0													165	146	152					X																	105179166		1880	4096	5976	SO:0001587	stop_gained	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3504C>A	chrX.hg19:g.105179166C>A	ENSP00000434830:p.Tyr1168*		Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	hg19		.	.	.	.	.	.	.	.	.	.	C	39	7.642014	0.98406	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	4.78	2.21	0.28008	.	0.336622	0.21892	N	0.067570	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9928	0.05988	0.2156:0.1161:0.0:0.6683	.	.	.	.	X	1168;1169	.	ENSP00000434830:Y1168X	Y	+	3	2	NRK	105065822	0.992000	0.36948	0.557000	0.28306	0.083000	0.17756	1.051000	0.30417	0.764000	0.33197	-0.296000	0.09543	TAC		0.383	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		A	105179166	C	A	105179166	4	1	7	1	0	0	0	0	0	1	0	0	10657	547	19	4	3586	4	NRK	23	105179166	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J7-01A-11D-A382-10	104973752	105179166	50091394	46	594											
ZFYVE9	9372	hgsc.bcm.edu	37	1	52769546	52769547	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr1:52769546_52769547insA	ENST00000371591.1	+	12	3518_3519	c.3387_3388insA	c.(3388-3390)atgfs	p.M1130fs	ZFYVE9_ENST00000357206.2_Frame_Shift_Ins_p.M1071fs|ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000287727.3_Frame_Shift_Ins_p.M1130fs	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1130					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGGTGGTTGATATGGAAGTTCG	0.371																																																0																																										SO:0001589	frameshift_variant	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3388dupA	chr1.hg19:g.52769547_52769547dupA	ENSP00000360647:p.Met1130fs		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Frame_Shift_Ins	INS	ENST00000371591.1	hg19	CCDS563.1																																																																																				0.371	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		A	52769547	-	A	52769546	7	5	8	1	0	1	1	0	0	0	0	0	17676	1403	49	0	3440	0	ZFYVE9	1	52769546	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J8-01A-11D-A42J-10		52769546	196481075	1	595											
CAMSAP1L1	23271	hgsc.bcm.edu	37	1	200818453	200818453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr1:200818453delA	ENST00000236925.4	+	12	2638	c.2589delA	c.(2587-2589)ccafs	p.P863fs	CAMSAP2_ENST00000358823.2_Frame_Shift_Del_p.P852fs|CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.P836fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	863					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TAAAGTCTCCAACTACACCTA	0.398																																																0													103	110	108					1																	200818453		2199	4300	6499	SO:0001589	frameshift_variant	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2589delA	chr1.hg19:g.200818453delA	ENSP00000236925:p.Pro863fs		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Del	DEL	ENST00000236925.4	hg19																																																																																					0.398	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		-	200818453	A	-	200818453	7	5	8	1	0	1	0	1	0	0	0	0	2614	117	5	0	2598	0	CAMSAP1L1	1	200818453	Frame_Shift_Del	DEL	A	TCGA-2Z-A9J8-01A-11D-A42J-10	148048907	200818453	48432168	2	596											
C1orf101	257044	hgsc.bcm.edu	37	1	244662360	244662360	+	Silent	SNP	G	G	A			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr1:244662360G>A	ENST00000366534.4	+	7	462	c.408G>A	c.(406-408)ggG>ggA	p.G136G	C1orf101_ENST00000366533.4_Silent_p.G136G|C1orf101_ENST00000366531.3_Intron|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	136						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGTTGCTGGGGAATGCAGAAG	0.353																																																0													107	104	105					1																	244662360		2203	4300	6503	SO:0001819	synonymous_variant	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.408G>A	chr1.hg19:g.244662360G>A			B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	hg19	CCDS44340.1																																																																																				0.353	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		A	244662360	G	A	244662360	2	1	8	1	0	0	0	0	0	0	0	1	1978	1161	41	2		2	C1orf101	1	244662360	Silent	SNP	G	TCGA-2Z-A9J8-01A-11D-A42J-10	43843907	244662360	4588261	3	597											
FAM110C	642273	hgsc.bcm.edu	37	2	46002	46003	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr2:46002_46003insT	ENST00000327669.4	-	1	382_383	c.383_384insA	c.(382-384)cagfs	p.Q128fs		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	128					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		TACCCGGCCCCTGGAAGAGCTT	0.688																																																0																																										SO:0001589	frameshift_variant	642273			DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.384dupA	chr2.hg19:g.46003_46003dupT	ENSP00000328347:p.Gln128fs			Frame_Shift_Ins	INS	ENST00000327669.4	hg19	CCDS42645.1																																																																																				0.688	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		T	46003	-	T	46002	7	5	8	1	0	1	1	0	0	0	0	0	5400	680	24	0	589	0	FAM110C	2	46002	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J8-01A-11D-A42J-10		46002	243153371	4	598											
ERBB4	2066	hgsc.bcm.edu	37	2	212578365	212578365	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr2:212578365C>T	ENST00000342788.4	-	8	1202	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	ERBB4_ENST00000436443.1_Missense_Mutation_p.V298M|ERBB4_ENST00000402597.1_Missense_Mutation_p.V298M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	298	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GAATCTACCACAAAGTTATCT	0.333										TSP Lung(8;0.080)																																						0													74	72	73					2																	212578365		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.892G>A	chr2.hg19:g.212578365C>T	ENSP00000342235:p.Val298Met		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	hg19	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742600	0.89573	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.32023	1.47;1.47;1.47	5.61	5.61	0.85477	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.999;1.0;1.0	T	0.68104	-0.5497	10	0.87932	D	0	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	298;298;157;298;298	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	M	298	ENSP00000342235:V298M;ENSP00000403204:V298M;ENSP00000385565:V298M	ENSP00000342235:V298M	V	-	1	0	ERBB4	212286610	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.639000	0.89480	0.655000	0.94253	GTG		0.333	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		T	212578365	C	T	212578365	3	4	8	1	0	0	0	0	1	0	0	0	5211	478	17	2	3118	2	ERBB4	2	212578365	Missense_Mutation	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10	212532363	212578365	30621008	5	599											
CUL3	8452	hgsc.bcm.edu	37	2	225378264	225378264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr2:225378264C>A	ENST00000264414.4	-	5	969	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	CUL3_ENST00000432260.2_5'Flank|CUL3_ENST00000409777.1_Nonsense_Mutation_p.E187*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.E145*|CUL3_ENST00000409096.1_Nonsense_Mutation_p.E187*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	211					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCAGACATTTCCAAAAAAGGA	0.303																																																0													57	60	59					2																	225378264		2202	4300	6502	SO:0001587	stop_gained	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.631G>T	chr2.hg19:g.225378264C>A	ENSP00000264414:p.Glu211*		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Nonsense_Mutation	SNP	ENST00000264414.4	hg19	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	38	6.790642	0.97841	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.	.	.	5.77	5.77	0.91146	.	0.095159	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.0562	0.97651	0.0:1.0:0.0:0.0	.	.	.	.	X	211;145;187;187	.	ENSP00000264414:E211X	E	-	1	0	CUL3	225086508	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.738000	0.68613	2.758000	0.94735	0.644000	0.83932	GAA		0.303	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			A	225378264	C	A	225378264	4	1	8	1	0	0	0	0	0	1	0	0	4058	864	30	4	1723	4	CUL3	2	225378264	Nonsense_Mutation	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10	12799899	225378264	17821109	6	600											
CUL3	8452	hgsc.bcm.edu	37	2	225449664	225449664	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr2:225449664delA	ENST00000264414.4	-	1	401	c.63delT	c.(61-63)tttfs	p.F21fs	CUL3_ENST00000344951.4_Frame_Shift_Del_p.F21fs	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	21					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GACTCACCGGAAAGGCCCGGA	0.731																																																0													31	30	30					2																	225449664		2195	4298	6493	SO:0001589	frameshift_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.63delT	chr2.hg19:g.225449664delA	ENSP00000264414:p.Phe21fs		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Frame_Shift_Del	DEL	ENST00000264414.4	hg19	CCDS2462.1																																																																																				0.731	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			-	225449664	A	-	225449664	7	5	8	1	0	1	0	1	0	0	0	0	4058	243	9	0	2307	0	CUL3	2	225449664	Frame_Shift_Del	DEL	A	TCGA-2Z-A9J8-01A-11D-A42J-10	71400	225449664	17749709	7	601											
NCBP2	22916	hgsc.bcm.edu	37	3	196666228	196666228	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr3:196666228T>C	ENST00000321256.5	-	2	247	c.154A>G	c.(154-156)Act>Gct	p.T52A	NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000447325.1_5'UTR|NCBP2_ENST00000422610.1_5'UTR|NCBP2_ENST00000467803.1_5'Flank|NCBP2_ENST00000427641.2_Intron|NCBP2_ENST00000452404.2_Missense_Mutation_p.T34A	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	52	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TGTTCTTCAGTTGTGTAAAAA	0.318																																																0													100	98	99					3																	196666228		2203	4300	6503	SO:0001583	missense	22916			D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"RNA binding motif (RRM) containing"	7659	protein-coding gene	gene with protein product		605133	"nuclear cap binding protein subunit 2, 20kD"			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.154A>G	chr3.hg19:g.196666228T>C	ENSP00000326806:p.Thr52Ala		B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Missense_Mutation	SNP	ENST00000321256.5	hg19	CCDS3323.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223483	0.58668	.	.	ENSG00000114503	ENST00000321256;ENST00000452404	T;T	0.80123	-1.34;-1.34	5.6	5.6	0.85130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.88592	0.6478	M	0.83483	2.645	0.80722	D	1	B;D;B	0.60575	0.032;0.988;0.063	B;P;B	0.58391	0.052;0.838;0.141	D	0.90237	0.4283	10	0.72032	D	0.01	.	15.2696	0.73689	0.0:0.0:0.0:1.0	.	34;71;52	P52298-2;Q7Z3W9;P52298	.;.;NCBP2_HUMAN	A	52;34	ENSP00000326806:T52A;ENSP00000412785:T34A	ENSP00000326806:T52A	T	-	1	0	NCBP2	198150625	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.808000	0.62583	2.270000	0.75569	0.459000	0.35465	ACT		0.318	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	NM_007362		C	196666228	T	C	196666228	3	2	8	1	0	0	0	0	1	0	0	0	10214	1725	60	3	328	3	NCBP2	3	196666228	Missense_Mutation	SNP	T	TCGA-2Z-A9J8-01A-11D-A42J-10		196666228	1356202	8	602											
STAP1	26228	hgsc.bcm.edu	37	4	68424597	68424597	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr4:68424597C>A	ENST00000265404.2	+	1	152	c.70C>A	c.(70-72)Cta>Ata	p.L24I	STAP1_ENST00000396225.1_Missense_Mutation_p.L24I	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	24					intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GATTACTGCTCTACCTTTGTA	0.408																																																0													110	116	114					4																	68424597		2203	4300	6503	SO:0001583	missense	26228			AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"SH2 domain containing"	24133	protein-coding gene	gene with protein product	"BCR downstream signaling 1"	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.70C>A	chr4.hg19:g.68424597C>A	ENSP00000265404:p.Leu24Ile		B2R980	Missense_Mutation	SNP	ENST00000265404.2	hg19	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102975	0.76983	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.29917	1.55;1.55	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000015	T	0.53706	0.1813	M	0.71581	2.175	0.38906	D	0.957426	P	0.46457	0.878	D	0.74674	0.984	T	0.49679	-0.8914	10	0.26408	T	0.33	-11.5578	14.6071	0.68486	0.0:1.0:0.0:0.0	.	24	Q9ULZ2	STAP1_HUMAN	I	24	ENSP00000265404:L24I;ENSP00000379527:L24I	ENSP00000265404:L24I	L	+	1	2	STAP1	68107192	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.623000	0.46435	2.507000	0.84556	0.655000	0.94253	CTA		0.408	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		A	68424597	C	A	68424597	3	1	8	1	0	0	0	0	1	0	0	0	15257	912	32	4	72	4	STAP1	4	68424597	Missense_Mutation	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10		68424597	122729679	9	603											
NAAA	27163	hgsc.bcm.edu	37	4	76841890	76841890	+	Splice_Site	SNP	C	C	G			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr4:76841890C>G	ENST00000286733.4	-	7	1004		c.e7+1		NAAA_ENST00000399497.3_Splice_Site|NAAA_ENST00000507956.1_Splice_Site|NAAA_ENST00000511606.1_Splice_Site|NAAA_ENST00000505594.1_Splice_Site	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase						lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TAGCAGCCTACCTCCGGTCAT	0.493																																																0													137	143	141					4																	76841890		2005	4193	6198	SO:0001630	splice_region_variant	27163			M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"N-acylsphingosine amidohydrolase (acid ceramidase)-like"	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.902+1G>C	chr4.hg19:g.76841890C>G			Q5KTF2|Q96EY2|Q9BRA8	Splice_Site	SNP	ENST00000286733.4	hg19	CCDS43239.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902094	0.33628	.	.	ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000513045;ENST00000507956;ENST00000505594	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6924	0.88272	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAAA	77060914	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	6.194000	0.72082	2.781000	0.95711	0.650000	0.86243	.		0.493	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4		Intron	G	76841890	C	G	76841890	5	3	8	1	0	0	0	0	0	0	1	0	10129	521	18	4	199	4	NAAA	4	76841890	Splice_Site	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10	8417293	76841890	114312386	10	604											
NIPBL	25836	hgsc.bcm.edu	37	5	36995727	36995743	+	Frame_Shift_Del	DEL	GTATAGATCAATCAGTG	GTATAGATCAATCAGTG	-	rs368762999		TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	GTATAGATCAATCAGTG	GTATAGATCAATCAGTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr5:36995727_36995743delGTATAGATCAATCAGTG	ENST00000282516.8	+	11	3624_3640	c.3125_3141delGTATAGATCAATCAGTG	c.(3124-3141)agtatagatcaatcagtgfs	p.SIDQSV1042fs	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Del_p.SIDQSV1042fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1042					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.Q1045E(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTAATAGGTAGTATAGATCAATCAGTGTTAAAAGAAT	0.304																																																2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3125_3141delGTATAGATCAATCAGTG	chr5.hg19:g.36995727_36995743delGTATAGATCAATCAGTG	ENSP00000282516:p.Ser1042fs		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	hg19	CCDS3920.1																																																																																				0.304	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		-	36995743	GTATAGATCAATCAGTG	-	36995727	7	5	8	1	0	1	0	1	0	0	0	0	10430	1029	36	0	3163	0	NIPBL	5	36995727	Frame_Shift_Del	DEL	GTATAGATCAATCAGTG	TCGA-2Z-A9J8-01A-11D-A42J-10		36995727	143919533	11	605											
CLK4	57396	hgsc.bcm.edu	37	5	178043950	178043950	+	Splice_Site	SNP	C	C	G			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr5:178043950C>G	ENST00000316308.4	-	5	644		c.e5-1		CLK4_ENST00000522749.1_Splice_Site|RN7SKP70_ENST00000516655.1_RNA	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4						protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		ACGATTTCATCTAGAGTGAGG	0.378																																																0													99	91	94					5																	178043950		2203	4300	6503	SO:0001630	splice_region_variant	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.476-1G>C	chr5.hg19:g.178043950C>G				Splice_Site	SNP	ENST00000316308.4	hg19	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972257	0.53614	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6461	0.85177	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLK4	177976556	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.669000	0.83911	2.529000	0.85273	0.650000	0.86243	.		0.378	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2		Intron	G	178043950	C	G	178043950	5	3	8	1	0	0	0	0	0	0	1	0	3541	927	32	4	1006	4	CLK4	5	178043950	Splice_Site	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10	141048223	178043950	2871310	12	606											
RXRB	6257	hgsc.bcm.edu	37	6	33168099	33168099	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr6:33168099G>A	ENST00000374680.3	-	1	366	c.155C>T	c.(154-156)gCg>gTg	p.A52V	SLC39A7_ENST00000374677.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374685.4_Missense_Mutation_p.A52V|SLC39A7_ENST00000374675.3_5'Flank|RXRB_ENST00000413614.2_Missense_Mutation_p.R39W	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	52	Modulating. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	gcctgccaccgccgccgccgc	0.736																																																0													4	5	5					6																	33168099		1328	2374	3702	SO:0001583	missense	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.155C>T	chr6.hg19:g.33168099G>A	ENSP00000363812:p.Ala52Val		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	hg19	CCDS4768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.433234|3.433234	0.62844|0.62844	.|.	.|.	ENSG00000204231|ENSG00000204231	ENST00000374685;ENST00000374680|ENST00000413614	D;D|D	0.92805|0.94092	-3.11;-3.11|-3.35	4.89|4.89	3.94|3.94	0.45596|0.45596	.|.	1.429120|.	0.04277|.	N|.	0.343109|.	T|T	0.75517|0.75517	0.3860|0.3860	N|N	0.08118|0.08118	0|0	0.25642|0.25642	N|N	0.9862|0.9862	B;B;B;B|B	0.18310|0.06786	0.027;0.001;0.001;0.001|0.001	B;B;B;B|B	0.08055|0.01281	0.003;0.0;0.0;0.0|0.0	T|T	0.67856|0.67856	-0.5562|-0.5562	10|9	0.31617|0.87932	T|D	0.26|0	.|.	7.295|7.295	0.26387|0.26387	0.1227:0.0:0.8773:0.0|0.1227:0.0:0.8773:0.0	.|.	52;52;92;52|39	B7Z6J2;B7Z6X3;Q59G65;P28702|B7Z3E4	.;.;.;RXRB_HUMAN|.	V|W	52|39	ENSP00000363817:A52V;ENSP00000363812:A52V|ENSP00000415561:R39W	ENSP00000363812:A52V|ENSP00000415561:R39W	A|R	-|-	2|1	0|2	RXRB|RXRB	33276077|33276077	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.847000|0.847000	0.48162|0.48162	1.319000|1.319000	0.33655|0.33655	2.535000|2.535000	0.85469|0.85469	0.549000|0.549000	0.68633|0.68633	GCG|CGG		0.736	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		A	33168099	G	A	33168099	3	1	8	1	0	0	0	0	1	0	0	0	13770	1087	38	1	1486	1	RXRB	6	33168099	Missense_Mutation	SNP	G	TCGA-2Z-A9J8-01A-11D-A42J-10		33168099	137946968	13	607											
TTYH3	80727	hgsc.bcm.edu	37	7	2696131	2696132	+	Frame_Shift_Ins	INS	-	-	TCGT			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr7:2696131_2696132insTCGT	ENST00000258796.7	+	11	1418_1419	c.1213_1214insTCGT	c.(1213-1215)atcfs	p.-406fs	TTYH3_ENST00000407643.1_Frame_Shift_Ins_p.-374fs|TTYH3_ENST00000403167.1_Frame_Shift_Ins_p.-235fs	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GTTCAGCTCCATCGTCTGCAGC	0.639																																																0																																										SO:0001589	frameshift_variant	80727				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1214_1217dupTCGT	chr7.hg19:g.2696132_2696135dupTCGT	ENSP00000258796:p.Val406fs		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Frame_Shift_Ins	INS	ENST00000258796.7	hg19	CCDS34588.1																																																																																				0.639	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		TCGT	2696132	-	TCGT	2696131	7	5	8	1	0	1	1	0	0	0	0	0	16746	217	8	0	1255	0	TTYH3	7	2696131	Frame_Shift_Ins	INS	-	TCGA-2Z-A9J8-01A-11D-A42J-10		2696131	156442532	14	608											
AP1S1	1174	hgsc.bcm.edu	37	7	100802478	100802478	+	Splice_Site	SNP	G	G	T			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr7:100802478G>T	ENST00000337619.5	+	4	547		c.e4+1		MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					ACTGCAAGAGGTACGGGCCAG	0.622																																																0													32	34	33					7																	100802478		2157	4257	6414	SO:0001630	splice_region_variant	1174			AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, small 1 (19kD)", "clathrin coat assembly protein AP19", "sigma1A subunit of AP-1 clathrin adaptor complex", "AP-1 complex subunit sigma-1A", "sigma1A-adaptin", "golgi adaptor HA1/AP1 adaptin sigma-1A subunit", "clathrin assembly protein complex 1 sigma-1A small chain", "HA1 19 kDa subunit"	603531	"erythrokeratodermia variabilis 3 (Kamouraska type)"	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.429+1G>T	chr7.hg19:g.100802478G>T			B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Splice_Site	SNP	ENST00000337619.5	hg19	CCDS47669.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977593	0.74360	.	.	ENSG00000106367	ENST00000337619;ENST00000429457	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9897	0.71377	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AP1S1	100589198	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.269000	0.95684	2.474000	0.83562	0.555000	0.69702	.		0.622	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283	Intron	T	100802478	G	T	100802478	5	4	8	1	0	0	0	0	0	0	1	0	736	1275	44	4	444	4	AP1S1	7	100802478	Splice_Site	SNP	G	TCGA-2Z-A9J8-01A-11D-A42J-10	98106347	100802478	58336185	15	609											
OC90	729330	hgsc.bcm.edu	37	8	133044287	133044287	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr8:133044287delA	ENST00000443356.2	-	13	1006	c.920delT	c.(919-921)ttcfs	p.F307fs	OC90_ENST00000254627.3_Frame_Shift_Del_p.F291fs|OC90_ENST00000603859.1_Frame_Shift_Del_p.F291fs|OC90_ENST00000262283.5_Frame_Shift_Del_p.F503fs			Q02509	OC90_HUMAN	otoconin 90	307					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAGGAAGGTGAATCTGTCACA	0.547																																																0													114	111	112					8																	133044287		2066	4223	6289	SO:0001589	frameshift_variant	729330			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.920delT	chr8.hg19:g.133044287delA	ENSP00000390050:p.Phe307fs		B4DNG8	Frame_Shift_Del	DEL	ENST00000443356.2	hg19																																																																																					0.547	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		-	133044287	A	-	133044287	7	5	8	1	0	1	0	1	0	0	0	0	10816	246	9	0	573	0	OC90	8	133044287	Frame_Shift_Del	DEL	A	TCGA-2Z-A9J8-01A-11D-A42J-10		133044287	13319735	16	610											
MAPK15	225689	hgsc.bcm.edu	37	8	144803996	144803996	+	Silent	SNP	G	G	T			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr8:144803996G>T	ENST00000338033.4	+	13	1523	c.1404G>T	c.(1402-1404)ctG>ctT	p.L468L	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	468					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACCAGGCCCTGATCCGGGGTG	0.692																																																0													31	40	37					8																	144803996		1969	4120	6089	SO:0001819	synonymous_variant	225689			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1404G>T	chr8.hg19:g.144803996G>T			Q2TCF9|Q8N362	Silent	SNP	ENST00000338033.4	hg19	CCDS6409.2																																																																																				0.692	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		T	144803996	G	T	144803996	2	4	8	1	0	0	0	0	0	0	0	1	9279	1277	45	4		4	MAPK15	8	144803996	Silent	SNP	G	TCGA-2Z-A9J8-01A-11D-A42J-10	11759709	144803996	1560026	17	611											
RRAGA	10670	hgsc.bcm.edu	37	9	19049688	19049688	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr9:19049688C>A	ENST00000380527.1	+	1	317	c.31C>A	c.(31-33)Ctg>Atg	p.L11M		NM_006570.4	NP_006561.1			Ras-related GTP binding A											endometrium(1)|large_intestine(1)|lung(1)	3						GAAAAAGGTGCTGCTGATGGG	0.647																																																0													43	43	43					9																	19049688		2203	4300	6503	SO:0001583	missense	10670			BC006433	CCDS6488.1	9p21.3	2008-02-05			ENSG00000155876	ENSG00000155876			16963	protein-coding gene	gene with protein product		612194				7499430, 8995684	Standard	NM_006570		Approved	RAGA, FIP-1	uc003znj.3	Q7L523	OTTHUMG00000019621	ENST00000380527.1:c.31C>A	chr9.hg19:g.19049688C>A	ENSP00000369899:p.Leu11Met			Missense_Mutation	SNP	ENST00000380527.1	hg19	CCDS6488.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513952	0.64522	.	.	ENSG00000155876	ENST00000380527	T	0.74737	-0.87	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000019	D	0.90027	0.6886	H	0.95504	3.68	0.50813	D	0.999899	D	0.89917	1.0	D	0.97110	1.0	D	0.92530	0.6032	10	0.72032	D	0.01	-0.4855	15.8	0.78447	0.0:1.0:0.0:0.0	.	11	Q7L523	RRAGA_HUMAN	M	11	ENSP00000369899:L11M	ENSP00000369899:L11M	L	+	1	2	RRAGA	19039688	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.590000	0.46154	2.677000	0.91161	0.655000	0.94253	CTG		0.647	RRAGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051824.1	NM_006570		A	19049688	C	A	19049688	3	1	8	1	0	0	0	0	1	0	0	0	13678	796	28	4	33	4	RRAGA	9	19049688	Missense_Mutation	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10		19049688	122163743	18	612											
ZNF195	7748	hgsc.bcm.edu	37	11	3380633	3380633	+	Silent	SNP	G	G	T			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr11:3380633G>T	ENST00000399602.4	-	6	1731	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S	ZNF195_ENST00000354599.6_Silent_p.S463S|ZNF195_ENST00000005082.9_Silent_p.S512S|ZNF195_ENST00000343338.7_Silent_p.S467S|ZNF195_ENST00000526601.1_Silent_p.S516S|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Silent_p.S467S	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAATAAGGTTGGAGGACTGGG	0.398																																																0													138	140	139					11																	3380633		2042	4219	6261	SO:0001819	synonymous_variant	7748				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1605C>A	chr11.hg19:g.3380633G>T			A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	hg19	CCDS44522.1																																																																																				0.398	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			T	3380633	G	T	3380633	2	4	8	1	0	0	0	0	0	0	0	1	17763	1335	47	4		4	ZNF195	11	3380633	Silent	SNP	G	TCGA-2Z-A9J8-01A-11D-A42J-10		3380633	131625883	19	613											
MS4A7	58475	hgsc.bcm.edu	37	11	60156941	60156941	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr11:60156941G>T	ENST00000300184.3	+	5	614	c.418G>T	c.(418-420)Gta>Tta	p.V140L	MS4A7_ENST00000358246.1_Missense_Mutation_p.V95L|MS4A7_ENST00000534016.1_Missense_Mutation_p.V95L|MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000531787.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	140						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TGACAGCATGGTAGCCCTGAG	0.458																																																0													123	106	111					11																	60156941		2203	4300	6503	SO:0001583	missense	58475			AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.418G>T	chr11.hg19:g.60156941G>T	ENSP00000300184:p.Val140Leu		A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	hg19	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047263	0.36085	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027	T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44	3.69	0.755	0.18415	.	1.192500	0.06080	N	0.661653	T	0.05227	0.0139	M	0.66939	2.045	0.09310	N	0.999995	P;P;P	0.48503	0.911;0.891;0.835	P;P;B	0.51516	0.672;0.487;0.394	T	0.41052	-0.9530	10	0.10902	T	0.67	-14.9503	5.1754	0.15131	0.4047:0.0:0.5953:0.0	.	95;95;140	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	L	140;95;95;95;76	ENSP00000300184:V140L;ENSP00000350983:V95L;ENSP00000434637:V95L;ENSP00000433861:V95L;ENSP00000434819:V76L	ENSP00000300184:V140L	V	+	1	0	MS4A7	59913517	0.030000	0.19436	0.014000	0.15608	0.010000	0.07245	0.052000	0.14163	0.173000	0.19788	0.563000	0.77884	GTA		0.458	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			T	60156941	G	T	60156941	3	4	8	1	0	0	0	0	1	0	0	0	9868	1261	44	4	432	4	MS4A7	11	60156941	Missense_Mutation	SNP	G	TCGA-2Z-A9J8-01A-11D-A42J-10	56776308	60156941	74849575	20	614											
DPF2	5977	hgsc.bcm.edu	37	11	65108472	65108472	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr11:65108472C>T	ENST00000528416.1	+	3	362	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	DPF2_ENST00000415073.2_Missense_Mutation_p.R77W|DPF2_ENST00000252268.4_Missense_Mutation_p.R77W|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	77					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTACCCTGCCCGGCGCTGGCG	0.537																																																0													61	56	58					11																	65108472		2201	4297	6498	SO:0001583	missense	5977			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.229C>T	chr11.hg19:g.65108472C>T	ENSP00000436901:p.Arg77Trp		A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	hg19	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376421	0.82682	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	D;D;D	0.91407	-2.75;-2.84;-2.76	5.4	3.49	0.39957	.	0.000000	0.34025	N	0.004326	D	0.94604	0.8261	M	0.77103	2.36	0.52501	D	0.999951	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	D	0.94286	0.7524	10	0.87932	D	0	-16.7802	12.6765	0.56897	0.2988:0.7012:0.0:0.0	.	77;77;77	B4DT58;E9PN04;Q92785	.;.;REQU_HUMAN	W	77	ENSP00000436901:R77W;ENSP00000399714:R77W;ENSP00000252268:R77W	ENSP00000252268:R77W	R	+	1	2	DPF2	64865048	0.929000	0.31497	1.000000	0.80357	0.994000	0.84299	1.997000	0.40786	0.631000	0.30412	0.460000	0.39030	CGG		0.537	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		T	65108472	C	T	65108472	3	4	8	1	0	0	0	0	1	0	0	0	4719	643	23	1	239	1	DPF2	11	65108472	Missense_Mutation	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10	4951531	65108472	69898044	21	615											
ANKRD33	341405	hgsc.bcm.edu	37	12	52282036	52282036	+	5'UTR	SNP	C	C	A			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr12:52282036C>A	ENST00000340970.4	+	0	36				ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000301190.6_Missense_Mutation_p.F22L			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGGAGGCATTCGGAGACCCAG	0.577																																																0													113	104	107					12																	52282036		2203	4300	6503	SO:0001623	5_prime_UTR_variant	341405				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.-336C>A	chr12.hg19:g.52282036C>A			Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	hg19	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	C	3.679	-0.065896	0.07273	.	.	ENSG00000167612	ENST00000301190	T	0.18338	2.22	3.17	1.2	0.21068	.	.	.	.	.	T	0.06554	0.0168	N	0.03608	-0.345	0.19775	N	0.999956	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42799	-0.9430	9	0.11485	T	0.65	.	9.0053	0.36109	0.0:0.5521:0.4479:0.0	.	22;22	F8VTQ6;Q7Z3H0-2	.;.	L	22	ENSP00000301190:F22L	ENSP00000301190:F22L	F	+	3	2	ANKRD33	50568303	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.466000	0.22019	0.317000	0.23160	-0.467000	0.05162	TTC		0.577	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		A	52282036	C	A	52282036	1	1	8	0	1	0	0	0	0	0	0	0	661	883	31	4		4	ANKRD33	12	52282036	5'UTR	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10		52282036	81569859	22	616											
PSMB5	5693	hgsc.bcm.edu	37	14	23502654	23502654	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr14:23502654G>C	ENST00000361611.6	-	2	691	c.428C>G	c.(427-429)gCc>gGc	p.A143G	PSMB5_ENST00000460922.2_Intron|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000425762.2_Missense_Mutation_p.A40G|PSMB5_ENST00000493471.2_Missense_Mutation_p.A143G	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	143					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)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	CACCATGTTGGCAAGCAGTTT	0.522																																																0													141	122	128					14																	23502654		2203	4300	6503	SO:0001583	missense	5693			D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"Proteasome (prosome, macropain) subunits"	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.428C>G	chr14.hg19:g.23502654G>C	ENSP00000355325:p.Ala143Gly		B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	hg19	CCDS9584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.26|17.26	3.344679|3.344679	0.61073|0.61073	.|.	.|.	ENSG00000100804|ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000425762|ENST00000555895	T;T;T|.	0.37752|.	1.18;1.18;1.18|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77370|0.77370	0.4120|0.4120	M|M	0.80028|0.80028	2.48|2.48	0.80722|0.80722	D|D	1|1	D;P|.	0.58620|.	0.983;0.906|.	P;P|.	0.54026|.	0.682;0.74|.	T|T	0.79310|0.79310	-0.1856|-0.1856	10|5	0.66056|.	D|.	0.02|.	-10.7057|-10.7057	16.8115|16.8115	0.85722|0.85722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	143;143|.	P28074-2;P28074|.	.;PSB5_HUMAN|.	G|A	143;143;40|92	ENSP00000355325:A143G;ENSP00000452424:A143G;ENSP00000395206:A40G|.	ENSP00000334973:A143G|.	A|P	-|-	2|1	0|0	PSMB5|PSMB5	22572494|22572494	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	7.146000|7.146000	0.77373|0.77373	2.237000|2.237000	0.73441|0.73441	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.522	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		C	23502654	G	C	23502654	3	2	8	1	0	0	0	0	1	0	0	0	12685	1203	42	4	460	4	PSMB5	14	23502654	Missense_Mutation	SNP	G	TCGA-2Z-A9J8-01A-11D-A42J-10		23502654	83846886	23	617											
WDR90	197335	hgsc.bcm.edu	37	16	703789	703789	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr16:703789C>G	ENST00000293879.4	+	13	1423	c.1423C>G	c.(1423-1425)Cac>Gac	p.H475D	WDR90_ENST00000549091.1_Missense_Mutation_p.H475D|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	475										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGGCAAGGACCACCACGGGAG	0.637																																																0													37	44	42					16																	703789		1983	4152	6135	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1423C>G	chr16.hg19:g.703789C>G	ENSP00000293879:p.His475Asp		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	hg19	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	0.096	-1.158985	0.01686	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.25749	1.81;1.78	4.74	-1.93	0.07594	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.781704	0.10327	U	0.687997	T	0.09642	0.0237	N	0.11560	0.145	0.09310	N	0.999998	B;B;B	0.20052	0.008;0.005;0.041	B;B;B	0.20384	0.025;0.012;0.029	T	0.38845	-0.9642	10	0.10902	T	0.67	.	4.0027	0.09587	0.2474:0.1843:0.4737:0.0946	.	475;476;475	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	D	475	ENSP00000448122:H475D;ENSP00000293879:H475D	ENSP00000293879:H475D	H	+	1	0	WDR90	643790	0.000000	0.05858	0.343000	0.25615	0.626000	0.37791	-0.720000	0.04969	0.041000	0.15688	0.561000	0.74099	CAC		0.637	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		G	703789	C	G	703789	3	3	8	1	0	0	0	0	1	0	0	0	17342	594	21	4	1473	4	WDR90	16	703789	Missense_Mutation	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10		703789	89650964	24	618											
BTBD12	84464	hgsc.bcm.edu	37	16	3656681	3656681	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr16:3656681T>G	ENST00000294008.3	-	3	1194	c.554A>C	c.(553-555)gAc>gCc	p.D185A		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	185	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGGCTGGGAGTCGCTGTTGGG	0.488								Direct reversal of damage																																								0													132	127	129					16																	3656681		2197	4300	6497	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.554A>C	chr16.hg19:g.3656681T>G	ENSP00000294008:p.Asp185Ala		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	hg19	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	T	11.65	1.700644	0.30142	.	.	ENSG00000188827	ENST00000294008	T	0.01228	5.14	5.03	-0.379	0.12493	.	1.301390	0.05020	N	0.472509	T	0.01029	0.0034	L	0.29908	0.895	0.09310	N	1	B	0.30068	0.267	B	0.22386	0.039	T	0.45175	-0.9279	10	0.07325	T	0.83	.	2.0194	0.03505	0.2658:0.0792:0.1375:0.5175	.	185	Q8IY92	SLX4_HUMAN	A	185	ENSP00000294008:D185A	ENSP00000294008:D185A	D	-	2	0	SLX4	3596682	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-1.151000	0.03175	0.022000	0.15160	0.459000	0.35465	GAC		0.488	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		G	3656681	T	G	3656681	3	3	8	1	0	0	0	0	1	0	0	0	1542	1667	58	5	5002	5	BTBD12	16	3656681	Missense_Mutation	SNP	T	TCGA-2Z-A9J8-01A-11D-A42J-10	2952892	3656681	86698072	25	619											
SLC14A2	8170	hgsc.bcm.edu	37	18	43252937	43252937	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr18:43252937C>T	ENST00000255226.6	+	17	3118	c.2302C>T	c.(2302-2304)Ctc>Ttc	p.L768F	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.L245F|SLC14A2_ENST00000586448.1_Missense_Mutation_p.L768F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	768					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGCATCTTCCTCATAGCTCT	0.512																																																0													270	210	230					18																	43252937		2203	4300	6503	SO:0001583	missense	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2302C>T	chr18.hg19:g.43252937C>T	ENSP00000255226:p.Leu768Phe		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	hg19	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981375	0.53827	.	.	ENSG00000132874	ENST00000255226	T	0.58506	0.33	5.79	5.79	0.91817	.	0.000000	0.53938	D	0.000059	T	0.68504	0.3008	M	0.75447	2.3	0.80722	D	1	P	0.46706	0.883	P	0.51101	0.659	T	0.68965	-0.5270	10	0.45353	T	0.12	-34.2809	15.6071	0.76682	0.1381:0.8619:0.0:0.0	.	768	Q15849	UT2_HUMAN	F	768	ENSP00000255226:L768F	ENSP00000255226:L768F	L	+	1	0	SLC14A2	41506935	1.000000	0.71417	0.997000	0.53966	0.216000	0.24613	3.665000	0.54532	2.735000	0.93741	0.561000	0.74099	CTC		0.512	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			T	43252937	C	T	43252937	3	4	8	1	0	0	0	0	1	0	0	0	14403	681	24	2	2364	2	SLC14A2	18	43252937	Missense_Mutation	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10		43252937	34824311	26	620											
ZNF236	7776	hgsc.bcm.edu	37	18	74637348	74637348	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr18:74637348C>G	ENST00000253159.8	+	22	4057	c.3859C>G	c.(3859-3861)Cga>Gga	p.R1287G	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1289G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1287					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCCTATGACTCGAAGCTCATC	0.483																																																0													72	73	73					18																	74637348		2014	4162	6176	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3859C>G	chr18.hg19:g.74637348C>G	ENSP00000253159:p.Arg1287Gly		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	hg19	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614965	0.28712	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11495	2.77;2.95	4.85	3.98	0.46160	.	0.483231	0.20519	N	0.090734	T	0.09512	0.0234	L	0.27053	0.805	0.09310	N	0.99999	B	0.11235	0.004	B	0.08055	0.003	T	0.20009	-1.0288	10	0.44086	T	0.13	.	14.8772	0.70504	0.1444:0.8556:0.0:0.0	.	1287	Q9UL36	ZN236_HUMAN	G	1287	ENSP00000253159:R1287G;ENSP00000444524:R1287G	ENSP00000253159:R1287G	R	+	1	2	ZNF236	72766336	0.998000	0.40836	0.002000	0.10522	0.144000	0.21451	4.056000	0.57448	1.154000	0.42482	0.650000	0.86243	CGA		0.483	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			G	74637348	C	G	74637348	3	3	8	1	0	0	0	0	1	0	0	0	17794	876	31	4	3945	4	ZNF236	18	74637348	Missense_Mutation	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10	31384411	74637348	3439900	27	621											
DOT1L	84444	hgsc.bcm.edu	37	19	2223434	2223434	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr19:2223434C>T	ENST00000398665.3	+	25	3581	c.3545C>T	c.(3544-3546)cCa>cTa	p.P1182L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1182					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTACTCCCCACTCACCTCA	0.692																																																0													41	47	45					19																	2223434		1953	4141	6094	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3545C>T	chr19.hg19:g.2223434C>T	ENSP00000381657:p.Pro1182Leu		O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	hg19	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.435602|4.435602	0.83885|0.83885	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000440640|ENST00000398665;ENST00000221482;ENST00000457590	.|T;T	.|0.42513	.|1.28;0.97	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63977|0.63977	0.2557|0.2557	M|M	0.66939|0.66939	2.045|2.045	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.91635	.|0.914;0.999	T|T	0.68250|0.68250	-0.5458|-0.5458	5|10	.|0.87932	.|D	.|0	-14.6797|-14.6797	17.0688|17.0688	0.86567|0.86567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1182;1182	.|Q8TEK3;Q8TEK3-2	.|DOT1L_HUMAN;.	Y|L	969|1182;1182;62	.|ENSP00000381657:P1182L;ENSP00000407411:P62L	.|ENSP00000221482:P1182L	H|P	+|+	1|2	0|0	DOT1L|DOT1L	2174434|2174434	0.999000|0.999000	0.42202|0.42202	0.892000|0.892000	0.35008|0.35008	0.462000|0.462000	0.32619|0.32619	7.226000|7.226000	0.78060|0.78060	2.284000|2.284000	0.76573|0.76573	0.561000|0.561000	0.74099|0.74099	CAC|CCA		0.692	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		T	2223434	C	T	2223434	3	4	8	1	0	0	0	0	1	0	0	0	4711	594	21	2	3643	2	DOT1L	19	2223434	Missense_Mutation	SNP	C	TCGA-2Z-A9J8-01A-11D-A42J-10		2223434	56905549	28	622											
RASGRP4	115727	hgsc.bcm.edu	37	19	38905689	38905689	+	Silent	SNP	G	G	A			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chr19:38905689G>A	ENST00000587738.1	-	9	1099	c.1029C>T	c.(1027-1029)tgC>tgT	p.C343C	RASGRP4_ENST00000586305.1_Silent_p.C329C|RASGRP4_ENST00000587753.1_Intron|RASGRP4_ENST00000293062.9_Silent_p.C246C|RASGRP4_ENST00000454404.2_Silent_p.C309C|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000433821.2_Intron			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	343	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGAAACCCGCGCAGCCAGCCC	0.672																																																0													10	16	14					19																	38905689		1966	4151	6117	SO:0001819	synonymous_variant	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1029C>T	chr19.hg19:g.38905689G>A			A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	ENST00000587738.1	hg19	CCDS46068.1																																																																																				0.672	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		A	38905689	G	A	38905689	2	1	8	1	0	0	0	0	0	0	0	1	13083	1079	38	1		1	RASGRP4	19	38905689	Silent	SNP	G	TCGA-2Z-A9J8-01A-11D-A42J-10	36682255	38905689	20223294	29	623											
DIAPH2	1730	hgsc.bcm.edu	37	X	96171470	96171470	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chrX:96171470A>C	ENST00000324765.8	+	8	1113	c.766A>C	c.(766-768)Agt>Cgt	p.S256R	DIAPH2_ENST00000373054.4_Missense_Mutation_p.S252R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.S256R|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S256R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.S256R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	256	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AGATGAAAGAAGTCTTTTACT	0.299																																																0													62	57	58					X																	96171470		2203	4297	6500	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.766A>C	chrX.hg19:g.96171470A>C	ENSP00000321348:p.Ser256Arg		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	hg19	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506176	0.64410	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.69823	2.125	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.992;0.995	D	0.93186	0.6579	10	0.62326	D	0.03	.	14.6448	0.68754	1.0:0.0:0.0:0.0	.	256;256;263	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	R	256;252;256;256;256;263	ENSP00000362152:S256R;ENSP00000362145:S252R;ENSP00000348082:S256R;ENSP00000362140:S256R;ENSP00000321348:S256R	ENSP00000321348:S256R	S	+	1	0	DIAPH2	96058126	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.073000	0.76784	1.840000	0.53500	0.441000	0.28932	AGT		0.299	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		C	96171470	A	C	96171470	3	2	8	1	0	0	0	0	1	0	0	0	4521	72	3	5	796	5	DIAPH2	23	96171470	Missense_Mutation	SNP	A	TCGA-2Z-A9J8-01A-11D-A42J-10		96171470	59099090	30	624											
GPRASP1	9737	hgsc.bcm.edu	37	X	101910027	101910027	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9J8-01A-11D-A42J-10	TCGA-2Z-A9J8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cb146a7-7274-4738-9b83-05c82018a495	a106d5a1-9938-4c4f-aec9-6163033a57bd	g.chrX:101910027G>C	ENST00000361600.5	+	5	1987	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	GPRASP1_ENST00000444152.1_Missense_Mutation_p.E396Q|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.E396Q|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E396Q	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	396					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGCCAAGCAAGAAGCCAGGTC	0.542																																																0													51	59	56					X																	101910027		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1186G>C	chrX.hg19:g.101910027G>C	ENSP00000355146:p.Glu396Gln		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	hg19	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517068	0.27123	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	2.32	1.44	0.22558	.	.	.	.	.	T	0.43678	0.1258	M	0.71036	2.16	0.22127	N	0.999348	D	0.89917	1.0	D	0.91635	0.999	T	0.16276	-1.0408	9	0.35671	T	0.21	-5.7701	6.5511	0.22433	0.1669:0.0:0.8331:0.0	.	396	Q5JY77	GASP1_HUMAN	Q	396	ENSP00000393691:E396Q;ENSP00000409420:E396Q;ENSP00000355146:E396Q;ENSP00000445683:E396Q	ENSP00000355146:E396Q	E	+	1	0	GPRASP1	101796683	0.458000	0.25760	0.007000	0.13788	0.025000	0.11179	2.670000	0.46833	0.414000	0.25790	-0.393000	0.06486	GAA		0.542	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		C	101910027	G	C	101910027	3	2	8	1	0	0	0	0	1	0	0	0	6724	943	33	4	1188	4	GPRASP1	23	101910027	Missense_Mutation	SNP	G	TCGA-2Z-A9J8-01A-11D-A42J-10	5738557	101910027	53360533	31	625											
RERE	473	hgsc.bcm.edu	37	1	8425963	8425975	+	Frame_Shift_Del	DEL	CCTACGATGGGCT	CCTACGATGGGCT	-	rs527863652		TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	CCTACGATGGGCT	CCTACGATGGGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:8425963_8425975delCCTACGATGGGCT	ENST00000337907.3	-	14	1978_1990	c.1344_1356delAGCCCATCGTAGG	c.(1342-1356)cgagcccatcgtaggfs	p.RAHRR448fs	RERE_ENST00000460659.1_5'UTR|RERE_ENST00000400907.2_Frame_Shift_Del_p.RAHRR448fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.RAHRR448fs|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Frame_Shift_Del_p.RAHRR180fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	448					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCCTGCGGTGCCTACGATGGGCTCGGGAGCTGG	0.61																																																0																																										SO:0001589	frameshift_variant	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1344_1356delAGCCCATCGTAGG	chr1.hg19:g.8425963_8425975delCCTACGATGGGCT	ENSP00000338629:p.Arg448fs		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	hg19	CCDS95.1																																																																																				0.61	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			-	8425975	CCTACGATGGGCT	-	8425963	7	5	9	1	0	1	0	1	0	0	0	0	13237	738	26	0	3388	0	RERE	1	8425963	Frame_Shift_Del	DEL	CCTACGATGGGCT	TCGA-2Z-A9JD-01A-11D-A42J-10		8425963	240824658	1	626											
ZMYM6	9204	hgsc.bcm.edu	37	1	35453206	35453206	+	Silent	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:35453206T>C	ENST00000357182.4	-	16	3704	c.3477A>G	c.(3475-3477)caA>caG	p.Q1159Q	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Intron|ZMYM6NB_ENST00000373337.3_5'Flank|RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6_ENST00000487874.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1159					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				aatcattctcttgtgtgcgct	0.318																																																0													39	38	39					1																	35453206		1856	4087	5943	SO:0001819	synonymous_variant	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3477A>G	chr1.hg19:g.35453206T>C			B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	hg19	CCDS387.2																																																																																				0.318	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		C	35453206	T	C	35453206	2	2	9	1	0	0	0	0	0	0	0	1	17709	1606	56	3		3	ZMYM6	1	35453206	Silent	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	27027243	35453206	213797415	2	627											
KIAA0467	23334	hgsc.bcm.edu	37	1	43907699	43907699	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:43907699T>C	ENST00000562955.1	+	55	7600	c.7600T>C	c.(7600-7602)Tgt>Cgt	p.C2534R	SZT2_ENST00000372442.1_Missense_Mutation_p.C1692R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2591					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTTCGGCCCTTGTTCCCCTGG	0.602																																																0													50	48	49					1																	43907699		2203	4300	6503	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7600T>C	chr1.hg19:g.43907699T>C	ENSP00000457168:p.Cys2534Arg		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	hg19	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	T	8.595	0.885587	0.17540	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.21	4.07	0.47477	.	0.294570	0.39759	N	0.001273	T	0.42177	0.1191	L	0.29908	0.895	0.39585	D	0.969494	B	0.02656	0.0	B	0.04013	0.001	T	0.23190	-1.0195	9	0.25751	T	0.34	.	9.7297	0.40352	0.0:0.0868:0.0:0.9132	.	2534	Q5T011-5	.	R	1692	.	ENSP00000361519:C1692R	C	+	1	0	SZT2	43680286	0.999000	0.42202	0.901000	0.35422	0.818000	0.46254	3.426000	0.52778	0.805000	0.34159	0.533000	0.62120	TGT		0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		C	43907699	T	C	43907699	3	2	9	1	0	0	0	0	1	0	0	0	8180	1812	63	3	5228	3	KIAA0467	1	43907699	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	8454493	43907699	205342922	3	628											
AGBL4	84871	hgsc.bcm.edu	37	1	49100226	49100226	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:49100226G>A	ENST00000371839.1	-	9	1006	c.890C>T	c.(889-891)cCa>cTa	p.P297L	AGBL4_ENST00000334103.7_Missense_Mutation_p.P30L|AGBL4_ENST00000371838.1_Missense_Mutation_p.P297L	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	297					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		ATGGACCCATGGAGAGGGATC	0.483																																																0													86	89	88					1																	49100226		1970	4152	6122	SO:0001583	missense	84871			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.890C>T	chr1.hg19:g.49100226G>A	ENSP00000360905:p.Pro297Leu		B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	hg19	CCDS44137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.056437|4.056437	0.76074|0.76074	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000416121|ENST00000371839;ENST00000411952;ENST00000334103;ENST00000371838	.|T;T;T	.|0.17691	.|2.64;2.64;2.26	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Peptidase M14, carboxypeptidase A (1);	.|0.046068	.|0.85682	.|D	.|0.000000	T|T	0.34019|0.34019	0.0883|0.0883	L|L	0.43598|0.43598	1.365|1.365	0.80722|0.80722	D|D	1|1	.|P;D;P;B;B	.|0.76494	.|0.677;0.999;0.948;0.256;0.182	.|B;D;P;B;B	.|0.71414	.|0.299;0.973;0.754;0.173;0.102	T|T	0.00655|0.00655	-1.1624|-1.1624	5|9	.|.	.|.	.|.	-17.6024|-17.6024	17.0797|17.0797	0.86595|0.86595	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|112;309;30;142;297	.|A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57	.|.;.;.;.;CBPC6_HUMAN	Y|L	143|297;291;30;297	.|ENSP00000360905:P297L;ENSP00000335516:P30L;ENSP00000360904:P297L	.|.	H|P	-|-	1|2	0|0	AGBL4|AGBL4	48872813|48872813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.608000|8.608000	0.90895|0.90895	2.636000|2.636000	0.89361|0.89361	0.462000|0.462000	0.41574|0.41574	CAT|CCA		0.483	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		A	49100226	G	A	49100226	3	1	9	1	0	0	0	0	1	0	0	0	377	1348	47	2	645	2	AGBL4	1	49100226	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	5192527	49100226	200150395	4	629											
ALG14	199857	hgsc.bcm.edu	37	1	95448663	95448663	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:95448663G>T	ENST00000370205.5	-	4	666	c.620C>A	c.(619-621)cCc>cAc	p.P207H		NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	207					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		CACCGATTTGGGATACTTTTC	0.408																																																0													92	87	89					1																	95448663		2203	4300	6503	SO:0001583	missense	199857				CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"asparagine-linked glycosylation 14 homolog (yeast)", "asparagine-linked glycosylation 14 homolog (S. cerevisiae)"			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.620C>A	chr1.hg19:g.95448663G>T	ENSP00000359224:p.Pro207His		A8K030	Missense_Mutation	SNP	ENST00000370205.5	hg19	CCDS752.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958451	0.92726	.	.	ENSG00000172339	ENST00000370205	T	0.50548	0.74	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.72036	0.3411	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76468	-0.2948	10	0.87932	D	0	-29.758	20.1766	0.98178	0.0:0.0:1.0:0.0	.	207	Q96F25	ALG14_HUMAN	H	207	ENSP00000359224:P207H	ENSP00000359224:P207H	P	-	2	0	ALG14	95221251	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.232000	0.95325	2.772000	0.95346	0.655000	0.94253	CCC		0.408	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		T	95448663	G	T	95448663	3	4	9	1	0	0	0	0	1	0	0	0	516	1232	43	4	34	4	ALG14	1	95448663	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	46348437	95448663	153801958	5	630											
COL11A1	1301	hgsc.bcm.edu	37	1	103461460	103461460	+	Missense_Mutation	SNP	G	G	C	rs372933541		TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:103461460G>C	ENST00000370096.3	-	28	2612	c.2300C>G	c.(2299-2301)gCa>gGa	p.A767G	COL11A1_ENST00000512756.1_Missense_Mutation_p.A651G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A728G|COL11A1_ENST00000358392.2_Missense_Mutation_p.A779G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	767	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.A779E(1)|p.A767E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACACCATCTGCTCCCTGTGG	0.308																																																2	Substitution - Missense(2)	endometrium(2)											79	88	85					1																	103461460		2203	4297	6500	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2300C>G	chr1.hg19:g.103461460G>C	ENSP00000359114:p.Ala767Gly		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	hg19	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868258	0.72065	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.62	5.62	0.85841	.	0.055500	0.64402	D	0.000001	D	0.89026	0.6598	N	0.25789	0.76	0.80722	D	1	B;P;P;P	0.49961	0.347;0.93;0.93;0.886	P;P;P;B	0.49085	0.479;0.6;0.6;0.396	D	0.90656	0.4586	10	0.59425	D	0.04	.	14.8656	0.70412	0.0706:0.0:0.9294:0.0	.	651;728;779;767	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	G	767;779;728;651	ENSP00000359114:A767G;ENSP00000351163:A779G;ENSP00000302551:A728G;ENSP00000426533:A651G	ENSP00000302551:A728G	A	-	2	0	COL11A1	103234048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.158000	0.94723	2.640000	0.89533	0.591000	0.81541	GCA		0.308	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		C	103461460	G	C	103461460	3	2	9	1	0	0	0	0	1	0	0	0	3669	1319	46	4	3280	4	COL11A1	1	103461460	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	8012797	103461460	145789161	6	631											
LRIG2	9860	hgsc.bcm.edu	37	1	113661942	113661942	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:113661942A>G	ENST00000361127.5	+	17	2966	c.2768A>G	c.(2767-2769)tAt>tGt	p.Y923C	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	923					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CCATACACCTATATTGCTGAG	0.463																																																0													151	140	143					1																	113661942		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2768A>G	chr1.hg19:g.113661942A>G	ENSP00000355396:p.Tyr923Cys		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	hg19	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820350	0.50633	.	.	ENSG00000198799	ENST00000361127	T	0.70045	-0.45	5.12	2.63	0.31362	.	0.209042	0.42682	D	0.000676	T	0.65439	0.2691	M	0.62723	1.935	0.44500	D	0.997441	D	0.61080	0.989	D	0.63192	0.912	T	0.64896	-0.6299	10	0.41790	T	0.15	.	10.232	0.43260	0.6218:0.0:0.0:0.3782	.	923	O94898	LRIG2_HUMAN	C	923	ENSP00000355396:Y923C	ENSP00000355396:Y923C	Y	+	2	0	LRIG2	113463465	1.000000	0.71417	0.126000	0.21872	0.817000	0.46193	5.801000	0.69115	0.291000	0.22468	0.482000	0.46254	TAT		0.463	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		G	113661942	A	G	113661942	3	3	9	1	0	0	0	0	1	0	0	0	8947	449	16	3	2834	3	LRIG2	1	113661942	Missense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	10200482	113661942	135588679	7	632											
PDZK1	5174	hgsc.bcm.edu	37	1	145756430	145756430	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:145756430delG	ENST00000344770.2	+	6	880	c.807delG	c.(805-807)aagfs	p.K269fs	PDZK1_ENST00000451928.2_Frame_Shift_Del_p.K158fs|PDZK1_ENST00000417171.1_Frame_Shift_Del_p.K269fs	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	269	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AAATCATCAAGGACATAGATT	0.453																																																0																																										SO:0001589	frameshift_variant	5174			AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.807delG	chr1.hg19:g.145756430delG	ENSP00000342143:p.Lys269fs		B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Frame_Shift_Del	DEL	ENST00000344770.2	hg19	CCDS924.1																																																																																				0.453	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038502.2	NM_002614		-	145756430	G	-	145756430	7	5	9	1	0	1	0	1	0	0	0	0	11709	991	35	0	825	0	PDZK1	1	145756430	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JD-01A-11D-A42J-10	32094488	145756430	103494191	8	633											
FLG2	388698	hgsc.bcm.edu	37	1	152324407	152324407	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:152324407C>T	ENST00000388718.5	-	3	5927	c.5855G>A	c.(5854-5856)gGa>gAa	p.G1952E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1952					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCAGATCCCCTTCTTCC	0.527																																																0													326	307	313					1																	152324407		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5855G>A	chr1.hg19:g.152324407C>T	ENSP00000373370:p.Gly1952Glu		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	hg19	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	c	0.563	-0.844454	0.02671	.	.	ENSG00000143520	ENST00000388718	T	0.04119	3.7	3.91	-3.47	0.04753	.	.	.	.	.	T	0.00784	0.0026	L	0.38531	1.155	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48969	-0.8987	9	0.02654	T	1	0.2959	6.2752	0.20977	0.0:0.2193:0.4883:0.2924	.	1952	Q5D862	FILA2_HUMAN	E	1952	ENSP00000373370:G1952E	ENSP00000373370:G1952E	G	-	2	0	FLG2	150591031	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.819000	0.01716	-0.486000	0.06744	-0.371000	0.07208	GGA		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152324407	C	T	152324407	3	4	9	1	0	0	0	0	1	0	0	0	5925	855	30	2	1324	2	FLG2	1	152324407	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	6567977	152324407	96926214	9	634											
ADAM15	8751	hgsc.bcm.edu	37	1	155028274	155028274	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:155028274T>G	ENST00000356955.2	+	7	722	c.621T>G	c.(619-621)gaT>gaG	p.D207E	ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.D207E|ADAM15_ENST00000271836.6_Missense_Mutation_p.D207E|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Missense_Mutation_p.D207E|ADAM15_ENST00000355956.2_Missense_Mutation_p.D207E|ADAM15_ENST00000531455.1_Missense_Mutation_p.D217E|ADAM15_ENST00000447332.3_Missense_Mutation_p.D191E|ADAM15_ENST00000359280.4_Missense_Mutation_p.D207E|ADAM15_ENST00000368412.3_Missense_Mutation_p.D207E	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	207					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGAGGCGGGATGTGGTAACAG	0.587																																																0													163	148	153					1																	155028274		2203	4300	6503	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.621T>G	chr1.hg19:g.155028274T>G	ENSP00000349436:p.Asp207Glu		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	hg19	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333297	0.60853	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.00832	5.81;5.81;5.81;5.73;5.64;5.8;5.78;5.81	5.06	-8.02	0.01118	.	0.000000	0.43579	D	0.000558	T	0.00695	0.0023	N	0.24115	0.695	0.58432	D	0.999998	D;D;D;D;P;D;D;D;P;D	0.89917	0.999;0.999;1.0;1.0;0.867;0.999;0.999;0.999;0.933;0.999	D;D;D;D;P;D;D;D;P;D	0.91635	0.978;0.978;0.986;0.999;0.832;0.99;0.99;0.99;0.886;0.997	T	0.28839	-1.0031	10	0.18710	T	0.47	.	15.9225	0.79586	0.0:0.2266:0.0:0.7734	.	217;224;191;207;207;207;207;207;207;207	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	E	207;207;207;207;207;207;207;217	ENSP00000349436:D207E;ENSP00000403843:D207E;ENSP00000352226:D207E;ENSP00000353892:D207E;ENSP00000357397:D207E;ENSP00000348227:D207E;ENSP00000271836:D207E;ENSP00000432927:D217E	ENSP00000271836:D207E	D	+	3	2	ADAM15	153294898	0.001000	0.12720	0.505000	0.27651	0.980000	0.70556	-2.038000	0.01419	-1.727000	0.01368	0.379000	0.24179	GAT		0.587	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		G	155028274	T	G	155028274	3	3	9	1	0	0	0	0	1	0	0	0	237	1461	51	5	647	5	ADAM15	1	155028274	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	2703867	155028274	94222347	10	635											
EFNA1	1942	hgsc.bcm.edu	37	1	155106478	155106478	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:155106478C>A	ENST00000368407.3	+	5	1071	c.553C>A	c.(553-555)Cca>Aca	p.P185T	EFNA1_ENST00000368406.2_Missense_Mutation_p.P163T|SLC50A1_ENST00000368401.5_5'Flank|EFNA1_ENST00000469878.1_3'UTR|SLC50A1_ENST00000303343.8_5'Flank|SLC50A1_ENST00000484157.1_5'Flank|SLC50A1_ENST00000368404.4_5'Flank	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	185					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGTGCTGCCCCACGCCTCTT	0.572																																																0													122	97	105					1																	155106478		2203	4300	6503	SO:0001583	missense	1942				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"Ephrins"	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.553C>A	chr1.hg19:g.155106478C>A	ENSP00000357392:p.Pro185Thr		D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Missense_Mutation	SNP	ENST00000368407.3	hg19	CCDS1091.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965044	0.74131	.	.	ENSG00000169242	ENST00000368407;ENST00000368406	D;D	0.97256	-3.16;-4.31	5.64	5.64	0.86602	.	0.168948	0.53938	D	0.000052	D	0.95535	0.8549	L	0.27053	0.805	0.37000	D	0.8952	D;P	0.60575	0.988;0.915	P;B	0.58721	0.844;0.313	D	0.95458	0.8540	10	0.44086	T	0.13	3.0189	15.557	0.76203	0.0:1.0:0.0:0.0	.	163;185	P20827-2;P20827	.;EFNA1_HUMAN	T	185;163	ENSP00000357392:P185T;ENSP00000357391:P163T	ENSP00000357391:P163T	P	+	1	0	EFNA1	153373102	0.598000	0.26882	1.000000	0.80357	0.983000	0.72400	2.090000	0.41682	2.826000	0.97356	0.561000	0.74099	CCA		0.572	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	NM_004428		A	155106478	C	A	155106478	3	1	9	1	0	0	0	0	1	0	0	0	4952	623	22	4	571	4	EFNA1	1	155106478	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	78204	155106478	94144143	11	636											
FDPS	2224	hgsc.bcm.edu	37	1	155279709	155279709	+	Silent	SNP	C	C	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:155279709C>T	ENST00000356657.6	+	2	291	c.129C>T	c.(127-129)gcC>gcT	p.A43A	FDPS_ENST00000368356.4_Silent_p.A43A|FDPS_ENST00000447866.1_Intron|FDPS_ENST00000487002.1_3'UTR	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	43					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CAGTCCTGGCCTGGCACAGTG	0.682																																																0													16	18	17					1																	155279709		2202	4300	6502	SO:0001819	synonymous_variant	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.129C>T	chr1.hg19:g.155279709C>T			D3DV91|E9PCI9|Q96G29	Silent	SNP	ENST00000356657.6	hg19	CCDS1110.1																																																																																				0.682	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		T	155279709	C	T	155279709	2	4	9	1	0	0	0	0	0	0	0	1	5805	668	24	2		2	FDPS	1	155279709	Silent	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	173231	155279709	93970912	12	637											
OR10K2	391107	hgsc.bcm.edu	37	1	158390085	158390085	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:158390085T>C	ENST00000314902.2	-	1	571	c.572A>G	c.(571-573)cAt>cGt	p.H191R		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AAAGTGGTTATGGTGAGATGC	0.438																																																0													155	136	142					1																	158390085		2203	4300	6503	SO:0001583	missense	391107			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.572A>G	chr1.hg19:g.158390085T>C	ENSP00000324251:p.His191Arg			Missense_Mutation	SNP	ENST00000314902.2	hg19	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	t	3.646	-0.072430	0.07228	.	.	ENSG00000180708	ENST00000314902	T	0.00044	8.83	4.13	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.136917	0.33477	N	0.004876	T	0.00039	0.0001	N	0.14661	0.345	0.09310	N	1	B	0.33883	0.43	B	0.37833	0.259	T	0.00346	-1.1800	10	0.87932	D	0	.	10.0033	0.41942	0.0:0.0:0.1708:0.8292	.	191	Q6IF99	O10K2_HUMAN	R	191	ENSP00000324251:H191R	ENSP00000324251:H191R	H	-	2	0	OR10K2	156656709	0.001000	0.12720	0.006000	0.13384	0.007000	0.05969	1.152000	0.31663	0.710000	0.31997	-0.658000	0.03865	CAT		0.438	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		C	158390085	T	C	158390085	3	2	9	1	0	0	0	0	1	0	0	0	10916	1464	51	3	368	3	OR10K2	1	158390085	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	3110376	158390085	90860536	13	638											
SPTA1	6708	hgsc.bcm.edu	37	1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T	rs199993378		TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:158592846C>T	ENST00000368147.4	-	43	6227	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2016					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R2016H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGTTCCCAGCGCTTCAGCAG	0.478																																																1	Substitution - Missense(1)	lung(1)						C	HIS/ARG	3,3867		0,3,1932	231	230	231		6047	-1.5	0.6	1		231	1,8273		0,1,4136	yes	missense	SPTA1	NM_003126.2	29	0,4,6068	TT,TC,CC		0.0121,0.0775,0.0329	benign	2016/2420	158592846	4,12140	1935	4137	6072	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6047G>A	chr1.hg19:g.158592846C>T	ENSP00000357129:p.Arg2016His		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288856	0.23478	7.75E-4	1.21E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.40476	1.03;1.03	4.78	-1.49	0.08718	.	.	.	.	.	T	0.17619	0.0423	L	0.56340	1.77	0.38903	D	0.957367	P	0.47106	0.89	B	0.41723	0.365	T	0.10132	-1.0643	9	0.40728	T	0.16	.	5.6431	0.17575	0.1234:0.5367:0.0:0.3399	.	2016	P02549	SPTA1_HUMAN	H	2016;2013	ENSP00000357130:R2016H;ENSP00000357129:R2013H	ENSP00000357129:R2013H	R	-	2	0	SPTA1	156859470	0.999000	0.42202	0.633000	0.29310	0.020000	0.10135	0.741000	0.26202	-0.360000	0.08138	-0.136000	0.14681	CGC		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158592846	C	T	158592846	3	4	9	1	0	0	0	0	1	0	0	0	15121	768	27	1	1252	1	SPTA1	1	158592846	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	202761	158592846	90657775	14	639											
MAPKAPK2	9261	hgsc.bcm.edu	37	1	206905963	206905963	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:206905963A>G	ENST00000367103.3	+	10	1296	c.1103A>G	c.(1102-1104)gAg>gGg	p.E368G	MAPKAPK2_ENST00000294981.4_3'UTR	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	368	p38 MAPK-binding site.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GTTGACTACGAGCAGATCAAG	0.572																																																0													93	92	93					1																	206905963		2203	4300	6503	SO:0001583	missense	9261			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.1103A>G	chr1.hg19:g.206905963A>G	ENSP00000356070:p.Glu368Gly		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	hg19	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732623	0.69189	.	.	ENSG00000162889	ENST00000367103	T	0.49139	0.79	5.33	5.33	0.75918	Protein kinase-like domain (1);	.	.	.	.	T	0.46852	0.1414	M	0.65498	2.005	0.80722	D	1	B	0.32010	0.351	B	0.27887	0.084	T	0.50668	-0.8801	9	0.56958	D	0.05	-27.7491	14.4797	0.67573	1.0:0.0:0.0:0.0	.	368	P49137	MAPK2_HUMAN	G	368	ENSP00000356070:E368G	ENSP00000356070:E368G	E	+	2	0	MAPKAPK2	204972586	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.231000	0.95317	2.024000	0.59613	0.533000	0.62120	GAG		0.572	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		G	206905963	A	G	206905963	3	3	9	1	0	0	0	0	1	0	0	0	9291	304	11	3	1199	3	MAPKAPK2	1	206905963	Missense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	48313117	206905963	42344658	15	640											
OR2T34	127068	hgsc.bcm.edu	37	1	248737994	248737995	+	Missense_Mutation	DNP	AG	AG	GT			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:248737994_248737995AG>GT	ENST00000328782.2	-	1	85_86	c.64_65CT>AC	c.(64-66)CTc>ACc	p.L22T		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCAGCAAAGAGTCCCGTGAGG	0.515																																																0																																										SO:0001583	missense	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.64_65delinsGT	chr1.hg19:g.248737994_248737995delinsGT	ENSP00000330904:p.Leu22Thr		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	hg19	CCDS31120.1																																																																																				0.515	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		GT	248737995	AG	GT	248737994	3	3	9	1	0	0	0	0	1	0	0	0	11027	304	11	3	895	3	OR2T34	1	248737994	Missense_Mutation	DNP	AG	TCGA-2Z-A9JD-01A-11D-A42J-10	41832031	248737994	512627	16	641											
OR2T34	127068	hgsc.bcm.edu	37	1	248738035	248738035	+	Silent	SNP	A	A	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr1:248738035A>C	ENST00000328782.2	-	1	45	c.24T>G	c.(22-24)tcT>tcG	p.S8S		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTGATTCTGAGAAGTCTGAT	0.448																																																0													46	64	58					1																	248738035		2069	4274	6343	SO:0001819	synonymous_variant	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.24T>G	chr1.hg19:g.248738035A>C			B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	hg19	CCDS31120.1																																																																																				0.448	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		C	248738035	A	C	248738035	2	2	9	1	0	0	0	0	0	0	0	1	11027	291	11	5		5	OR2T34	1	248738035	Silent	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	41	248738035	512586	17	642											
GREB1	9687	hgsc.bcm.edu	37	2	11758487	11758487	+	Silent	SNP	G	G	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr2:11758487G>A	ENST00000381486.2	+	22	3786	c.3486G>A	c.(3484-3486)caG>caA	p.Q1162Q	GREB1_ENST00000396123.1_Silent_p.Q160Q|GREB1_ENST00000234142.5_Silent_p.Q1162Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1162	Ser-rich.					integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGTCGCCCCAGCCCCGTGGCC	0.697																																					Ovarian(39;850 945 2785 23371 33093)											0													17	20	19					2																	11758487		1961	4056	6017	SO:0001819	synonymous_variant	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3486G>A	chr2.hg19:g.11758487G>A			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	hg19	CCDS42655.1																																																																																				0.697	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11758487	G	A	11758487	2	1	9	1	0	0	0	0	0	0	0	1	6762	962	34	2		2	GREB1	2	11758487	Silent	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10		11758487	231440886	18	643											
DNAJC5G	285126	hgsc.bcm.edu	37	2	27500849	27500849	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr2:27500849G>C	ENST00000296097.3	+	4	759	c.341G>C	c.(340-342)aGa>aCa	p.R114T	SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.R98T|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.R114T	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	114						membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGCGTCAGATACTATTTT	0.403																																																0													77	76	77					2																	27500849		2203	4300	6503	SO:0001583	missense	285126			AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"Heat shock proteins / DNAJ (HSP40)"	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.341G>C	chr2.hg19:g.27500849G>C	ENSP00000296097:p.Arg114Thr		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	hg19	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504325	0.26949	.	.	ENSG00000163793	ENST00000296097;ENST00000402462;ENST00000404433	T;T;T	0.72282	-0.64;-0.64;-0.64	4.96	0.26	0.15588	.	0.389286	0.21364	N	0.075745	T	0.48187	0.1486	N	0.19112	0.55	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.13415	-1.0510	10	0.25106	T	0.35	.	6.3686	0.21469	0.1661:0.6106:0.2233:0.0	.	114	Q8N7S2	DNJ5G_HUMAN	T	114;114;98	ENSP00000296097:R114T;ENSP00000384305:R114T;ENSP00000385829:R98T	ENSP00000296097:R114T	R	+	2	0	DNAJC5G	27354353	0.612000	0.27000	0.938000	0.37757	0.835000	0.47333	1.289000	0.33307	0.116000	0.18110	0.563000	0.77884	AGA		0.403	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		C	27500849	G	C	27500849	3	2	9	1	0	0	0	0	1	0	0	0	4654	942	33	4	347	4	DNAJC5G	2	27500849	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	15742362	27500849	215698524	19	644											
MSH2	4436	hgsc.bcm.edu	37	2	47637500	47637500	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr2:47637500delA	ENST00000233146.2	+	3	857	c.634delA	c.(634-636)aaafs	p.K212fs	MSH2_ENST00000543555.1_Frame_Shift_Del_p.K146fs|MSH2_ENST00000406134.1_Frame_Shift_Del_p.K212fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	212					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGACATGGGGAAACTGAGACA	0.433			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)											92	93	93					2																	47637500		2203	4300	6503	SO:0001589	frameshift_variant	4436	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	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.634delA	chr2.hg19:g.47637500delA	ENSP00000233146:p.Lys212fs		B4E2Z2|O75488	Frame_Shift_Del	DEL	ENST00000233146.2	hg19	CCDS1834.1																																																																																				0.433	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			-	47637500	A	-	47637500	7	5	9	1	0	1	0	1	0	0	0	0	9872	247	9	0	644	0	MSH2	2	47637500	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JD-01A-11D-A42J-10	20136651	47637500	195561873	20	645											
AQP12B	653437	hgsc.bcm.edu	37	2	241622206	241622206	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr2:241622206G>T	ENST00000407834.3	-	1	111	c.49C>A	c.(49-51)Ctc>Atc	p.L17I		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	17						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCCTCACAGAGGGTGAAGGTG	0.677																																																0													49	55	53					2																	241622206		2168	4270	6438	SO:0001583	missense	653437			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.49C>A	chr2.hg19:g.241622206G>T	ENSP00000384894:p.Leu17Ile		A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	hg19	CCDS46560.1	.	.	.	.	.	.	.	.	.	.	.	9.399	1.077458	0.20227	.	.	ENSG00000185176	ENST00000407834	T	0.10477	2.87	3.19	2.24	0.28232	.	0.462193	0.22773	N	0.055816	T	0.08313	0.0207	L	0.38175	1.15	0.30214	N	0.797416	B	0.27351	0.176	B	0.26202	0.067	T	0.17806	-1.0357	9	.	.	.	-14.734	9.3887	0.38359	0.0:0.0:0.7749:0.2251	.	17	A6NM10-2	.	I	17	ENSP00000384894:L17I	.	L	-	1	0	AQP12B	241270879	0.017000	0.18338	0.381000	0.26106	0.247000	0.25773	0.485000	0.22324	0.549000	0.28973	0.479000	0.44913	CTC		0.677	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			T	241622206	G	T	241622206	3	4	9	1	0	0	0	0	1	0	0	0	825	1000	35	4	886	4	AQP12B	2	241622206	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	193984706	241622206	1577167	21	646											
BAP1	8314	hgsc.bcm.edu	37	3	52437652	52437652	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr3:52437652delG	ENST00000460680.1	-	13	1980	c.1509delC	c.(1507-1509)ttcfs	p.F503fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.F485fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTGGCGAGTTGAAAGCACTGC	0.632			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													49	51	50					3																	52437652		2203	4300	6503	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1509delC	chr3.hg19:g.52437652delG	ENSP00000417132:p.Phe503fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	hg19	CCDS2853.1																																																																																				0.632	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52437652	G	-	52437652	7	5	9	1	0	1	0	1	0	0	0	0	1311	1281	45	0	700	0	BAP1	3	52437652	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JD-01A-11D-A42J-10		52437652	145584778	22	647	5	2									
BAP1	8314	hgsc.bcm.edu	37	3	52437657	52437657	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr3:52437657C>G	ENST00000460680.1	-	13	1975	c.1504G>C	c.(1504-1506)Gct>Cct	p.A502P	BAP1_ENST00000296288.5_Missense_Mutation_p.A484P	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GAGTTGAAAGCACTGCCGATC	0.642			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													48	51	50					3																	52437657		2203	4300	6503	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1504G>C	chr3.hg19:g.52437657C>G	ENSP00000417132:p.Ala502Pro		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	hg19	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055937	0.93793	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368	T;T;T	0.64438	-0.07;-0.1;-0.03	6.05	6.05	0.98169	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.000000	0.85682	D	0.000000	T	0.73552	0.3601	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.74375	-0.3686	10	0.87932	D	0	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	502	Q92560	BAP1_HUMAN	P	502;484;3	ENSP00000417132:A502P;ENSP00000296288:A484P;ENSP00000420647:A3P	ENSP00000296288:A484P	A	-	1	0	BAP1	52412697	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	7.313000	0.78978	2.880000	0.98712	0.655000	0.94253	GCT		0.642	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			G	52437657	C	G	52437657	3	3	9	1	0	0	0	0	1	0	0	0	1311	710	25	4	705	4	BAP1	3	52437657	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	5	52437657	145584773	23	648	5	2									
CACNA1D	776	hgsc.bcm.edu	37	3	53684852	53684852	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr3:53684852T>G	ENST00000350061.5	+	4	1041	c.530T>G	c.(529-531)tTt>tGt	p.F177C	CACNA1D_ENST00000288139.4_Missense_Mutation_p.F177C|CACNA1D_ENST00000422281.2_Missense_Mutation_p.F177C	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	177					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCGAGACATTTTTGAAGATT	0.353																																																0													151	151	151					3																	53684852		2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.530T>G	chr3.hg19:g.53684852T>G	ENSP00000288133:p.Phe177Cys		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	hg19	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	t	20.2	3.958340	0.73902	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.98419	-4.92;-4.92;-4.92	5.06	5.06	0.68205	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.97723	0.9253	L	0.60012	1.86	0.80722	D	1	B;P;B	0.47962	0.118;0.903;0.096	B;P;B	0.50136	0.22;0.632;0.072	D	0.98463	1.0597	10	0.87932	D	0	.	15.0208	0.71630	0.0:0.0:0.0:1.0	.	177;177;177	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	C	177	ENSP00000288133:F177C;ENSP00000288139:F177C;ENSP00000409174:F177C	ENSP00000288139:F177C	F	+	2	0	CACNA1D	53659892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.860000	0.86993	2.139000	0.66308	0.358000	0.22013	TTT		0.353	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		G	53684852	T	G	53684852	3	3	9	1	0	0	0	0	1	0	0	0	2543	1841	64	5	544	5	CACNA1D	3	53684852	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	1247195	53684852	144337578	24	649											
CCDC39	339829	hgsc.bcm.edu	37	3	180334122	180334122	+	Silent	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr3:180334122T>C	ENST00000442201.2	-	19	2735	c.2616A>G	c.(2614-2616)acA>acG	p.T872T	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	872	Ser-rich.				axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GACTGCCTTTTGTGCTAGCTG	0.378																																																0													112	106	108					3																	180334122		1869	4110	5979	SO:0001819	synonymous_variant	339829			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2616A>G	chr3.hg19:g.180334122T>C			B4E2H1	Silent	SNP	ENST00000442201.2	hg19	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	4.423	0.078286	0.08485	.	.	ENSG00000145075	ENST00000473854	.	.	.	4.62	-6.0	0.02206	.	.	.	.	.	T	0.15869	0.0382	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24799	-1.0150	4	.	.	.	.	1.1368	0.01757	0.2271:0.1119:0.2181:0.4429	.	.	.	.	R	56	.	.	Q	-	2	0	CCDC39	181816816	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.781000	0.04648	-1.154000	0.02825	-0.585000	0.04130	CAA		0.378	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		C	180334122	T	C	180334122	2	2	9	1	0	0	0	0	0	0	0	1	2813	1799	63	3		3	CCDC39	3	180334122	Silent	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	126649270	180334122	17688308	25	650											
ZNF141	7700	hgsc.bcm.edu	37	4	366865	366865	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr4:366865A>G	ENST00000240499.7	+	4	788	c.639A>G	c.(637-639)atA>atG	p.I213M	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	213					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						GGTCTTTAATATTTAATGAAC	0.358																																																0													53	60	57					4																	366865		2178	4293	6471	SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.639A>G	chr4.hg19:g.366865A>G	ENSP00000240499:p.Ile213Met		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	hg19	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.315890	0.23908	.	.	ENSG00000131127	ENST00000240499	T	0.15256	2.44	1.23	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08179	0.0204	N	0.20986	0.625	0.09310	N	1	P	0.40681	0.727	B	0.35688	0.208	T	0.25606	-1.0127	8	.	.	.	.	4.0674	0.09866	0.6895:0.0:0.0:0.3105	.	213	Q15928	ZN141_HUMAN	M	213	ENSP00000240499:I213M	.	I	+	3	3	ZNF141	356865	0.000000	0.05858	0.006000	0.13384	0.958000	0.62258	-2.175000	0.01263	-0.521000	0.06426	0.254000	0.18369	ATA		0.358	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		G	366865	A	G	366865	3	3	9	1	0	0	0	0	1	0	0	0	17735	439	16	3	653	3	ZNF141	4	366865	Missense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10		366865	190787411	26	651											
N4BP2	55728	hgsc.bcm.edu	37	4	40121601	40121601	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr4:40121601T>C	ENST00000261435.6	+	9	2286	c.1870T>C	c.(1870-1872)Tct>Cct	p.S624P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	624					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAATATTTTATCTTTATCTTT	0.323																																																0													42	49	47					4																	40121601		2181	4262	6443	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1870T>C	chr4.hg19:g.40121601T>C	ENSP00000261435:p.Ser624Pro		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	hg19	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.926|6.926	0.540553|0.540553	0.13250|0.13250	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.19669	.|2.13	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|0.364797	.|0.28815	.|N	.|0.014051	T|T	0.19644|0.19644	0.0472|0.0472	L|L	0.56769|0.56769	1.78|1.78	0.25803|0.25803	N|N	0.984481|0.984481	.|B;B	.|0.14438	.|0.01;0.003	.|B;B	.|0.16722	.|0.016;0.003	T|T	0.11891|0.11891	-1.0569|-1.0569	5|10	.|0.52906	.|T	.|0.07	-9.1621|-9.1621	5.7056|5.7056	0.17907|0.17907	0.1577:0.0:0.1896:0.6527|0.1577:0.0:0.1896:0.6527	.|.	.|624;624	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	T|P	270|624;544	.|ENSP00000261435:S624P	.|ENSP00000261435:S624P	I|S	+|+	2|1	0|0	N4BP2|N4BP2	39797996|39797996	0.317000|0.317000	0.24589|0.24589	0.949000|0.949000	0.38748|0.38748	0.075000|0.075000	0.17131|0.17131	2.005000|2.005000	0.40864|0.40864	2.269000|2.269000	0.75478|0.75478	0.454000|0.454000	0.30748|0.30748	ATC|TCT		0.323	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		C	40121601	T	C	40121601	3	2	9	1	0	0	0	0	1	0	0	0	10112	1435	50	3	1896	3	N4BP2	4	40121601	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	39754736	40121601	151032675	27	652											
SHROOM3	57619	hgsc.bcm.edu	37	4	77660481	77660481	+	Silent	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr4:77660481T>C	ENST00000296043.6	+	5	2108	c.1155T>C	c.(1153-1155)ccT>ccC	p.P385P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	385					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CACCCCTGCCTCCAGCTCGGA	0.632																																																0													43	42	42					4																	77660481		2203	4300	6503	SO:0001819	synonymous_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1155T>C	chr4.hg19:g.77660481T>C			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	hg19	CCDS3579.2																																																																																				0.632	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		C	77660481	T	C	77660481	2	2	9	1	0	0	0	0	0	0	0	1	14301	1538	54	3		3	SHROOM3	4	77660481	Silent	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	37538880	77660481	113493795	28	653											
IL6ST	3572	hgsc.bcm.edu	37	5	55247359	55247359	+	Silent	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr5:55247359T>C	ENST00000381298.2	-	14	2085	c.1773A>G	c.(1771-1773)cgA>cgG	p.R591R	IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381294.3_Silent_p.R530R|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Silent_p.R591R|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Silent_p.R591R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	591	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGCTGCCATTCGTACCATGT	0.383			O		hepatocellular ca																																		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													142	129	133					5																	55247359		2203	4300	6503	SO:0001819	synonymous_variant	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1773A>G	chr5.hg19:g.55247359T>C			A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	hg19	CCDS3971.1																																																																																				0.383	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		C	55247359	T	C	55247359	2	2	9	1	0	0	0	0	0	0	0	1	7705	1770	62	3		3	IL6ST	5	55247359	Silent	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10		55247359	125667901	29	654											
GFM2	84340	hgsc.bcm.edu	37	5	74017604	74017604	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr5:74017604T>C	ENST00000296805.3	-	21	2673	c.2216A>G	c.(2215-2217)tAt>tGt	p.Y739C	GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000345239.2_Missense_Mutation_p.Y692C|GFM2_ENST00000509430.1_Missense_Mutation_p.Y739C	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CACAGTTGAATAACCCTAATC	0.343																																																0													61	58	59					5																	74017604		2203	4300	6503	SO:0001583	missense	84340			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.2216A>G	chr5.hg19:g.74017604T>C	ENSP00000296805:p.Tyr739Cys			Missense_Mutation	SNP	ENST00000296805.3	hg19	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965843	0.74131	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430	T;T;T	0.62105	0.05;0.05;0.05	5.85	5.85	0.93711	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92382	0.5914	10	0.87932	D	0	-16.682	16.2444	0.82434	0.0:0.0:0.0:1.0	.	737;692;739	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	C	739;692;561;739	ENSP00000296805:Y739C;ENSP00000296804:Y692C;ENSP00000427004:Y739C	ENSP00000296805:Y739C	Y	-	2	0	GFM2	74053360	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.524000	0.81866	2.233000	0.73108	0.455000	0.32223	TAT		0.343	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		C	74017604	T	C	74017604	3	2	9	1	0	0	0	0	1	0	0	0	6344	1406	49	3	127	3	GFM2	5	74017604	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	18770245	74017604	106897656	30	655											
PCDHGB2	56103	hgsc.bcm.edu	37	5	140741837	140741837	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr5:140741837C>T	ENST00000522605.1	+	1	2135	c.2135C>T	c.(2134-2136)tCc>tTc	p.S712F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	712					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCAATCTCCCTGCGCCTG	0.572																																																0													94	98	97					5																	140741837		2036	4193	6229	SO:0001583	missense	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2135C>T	chr5.hg19:g.140741837C>T	ENSP00000429018:p.Ser712Phe		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	hg19	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	9.528	1.110098	0.20714	.	.	ENSG00000253910	ENST00000522605	T	0.13778	2.56	4.96	3.01	0.34805	.	.	.	.	.	T	0.09291	0.0229	L	0.38175	1.15	0.09310	N	1	B;P	0.48016	0.288;0.904	B;B	0.37198	0.162;0.243	T	0.25916	-1.0118	9	0.87932	D	0	.	4.844	0.13505	0.0:0.4413:0.3815:0.1772	.	712;712	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	F	712	ENSP00000429018:S712F	ENSP00000429018:S712F	S	+	2	0	PCDHGB2	140722021	0.577000	0.26708	0.243000	0.24186	0.540000	0.34992	1.496000	0.35638	1.193000	0.43086	0.461000	0.40582	TCC		0.572	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		T	140741837	C	T	140741837	3	4	9	1	0	0	0	0	1	0	0	0	11565	855	30	2	2137	2	PCDHGB2	5	140741837	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	66724233	140741837	40173423	31	656											
PCDHGB6	56100	hgsc.bcm.edu	37	5	140788766	140788766	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr5:140788766G>T	ENST00000520790.1	+	1	997	c.997G>T	c.(997-999)Gta>Tta	p.V333L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	333	Cadherin 3. {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(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTGTAAAGTAATCATAGA	0.398																																																0													100	101	101					5																	140788766		1895	4117	6012	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.997G>T	chr5.hg19:g.140788766G>T	ENSP00000428603:p.Val333Leu		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	hg19	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	-	14.96	2.692194	0.48202	.	.	ENSG00000253305	ENST00000520790	T	0.57107	0.42	5.33	3.52	0.40303	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58438	0.2122	M	0.67700	2.07	0.24431	N	0.994579	P;D	0.54047	0.863;0.964	P;P	0.52554	0.702;0.499	T	0.49615	-0.8921	9	0.49607	T	0.09	.	7.0434	0.25033	0.1481:0.0:0.7137:0.1381	.	333;333	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	L	333	ENSP00000428603:V333L	ENSP00000428603:V333L	V	+	1	0	PCDHGB6	140768950	0.819000	0.29175	0.770000	0.31555	0.968000	0.65278	0.600000	0.24104	0.604000	0.29930	0.460000	0.39030	GTA		0.398	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		T	140788766	G	T	140788766	3	4	9	1	0	0	0	0	1	0	0	0	11569	1029	36	4	999	4	PCDHGB6	5	140788766	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	46929	140788766	40126494	32	657											
ARHGAP26	23092	hgsc.bcm.edu	37	5	142281604	142281604	+	Splice_Site	SNP	C	C	A	rs142837036		TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr5:142281604C>A	ENST00000274498.4	+	7	1080	c.702C>A	c.(700-702)aaC>aaA	p.N234K	ARHGAP26_ENST00000378004.3_Splice_Site_p.N234K	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	234					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.N234N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATACAGAACGTGAGTGGGC	0.463																																																1	Substitution - coding silent(1)	ovary(1)											126	111	116					5																	142281604		2203	4300	6503	SO:0001630	splice_region_variant	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.702+1C>A	chr5.hg19:g.142281604C>A			O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	hg19	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206681	0.58343	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	T;T	0.04015	3.73;3.73	5.49	-7.51	0.01346	.	0.000000	0.85682	D	0.000000	T	0.04543	0.0124	L	0.48218	1.51	0.58432	D	0.999991	P;B	0.42620	0.785;0.18	B;B	0.42827	0.399;0.188	T	0.13845	-1.0494	10	0.19590	T	0.45	.	13.6099	0.62071	0.0:0.2143:0.0:0.7857	.	234;234	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	K	234	ENSP00000274498:N234K;ENSP00000367243:N234K	ENSP00000274498:N234K	N	+	3	2	ARHGAP26	142261788	0.998000	0.40836	0.887000	0.34795	0.680000	0.39746	0.442000	0.21628	-1.491000	0.01840	-2.010000	0.00438	AAC		0.463	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	Missense_Mutation	A	142281604	C	A	142281604	5	1	9	1	0	0	0	0	0	0	1	0	875	550	19	4	728	4	ARHGAP26	5	142281604	Splice_Site	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	1492838	142281604	38633656	33	658											
C5orf4	10826	hgsc.bcm.edu	37	5	154200926	154200926	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr5:154200926T>C	ENST00000326080.5	-	8	1162	c.739A>G	c.(739-741)Atc>Gtc	p.I247V	FAXDC2_ENST00000517938.1_Missense_Mutation_p.I224V|FAXDC2_ENST00000523997.1_5'Flank	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	247					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										CACATGGTGATGGAGGACAAG	0.552																																																0													187	195	192					5																	154200926		2118	4218	6336	SO:0001583	missense	10826			AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"Fatty acid hydroxylase domain containing"	1334	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 4"	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.739A>G	chr5.hg19:g.154200926T>C	ENSP00000320604:p.Ile247Val		B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	hg19	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	T	2.017	-0.425684	0.04701	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	D;D	0.84660	-1.88;-1.88	5.24	5.24	0.73138	Fatty acid hydroxylase (1);	0.050639	0.85682	D	0.000000	T	0.69223	0.3087	N	0.05487	-0.04	0.80722	D	1	B	0.12013	0.005	B	0.14023	0.01	T	0.64334	-0.6432	10	0.17832	T	0.49	.	11.1394	0.48394	0.0:0.0739:0.0:0.9261	.	247	Q96IV6	CE004_HUMAN	V	247;224	ENSP00000320604:I247V;ENSP00000430286:I224V	ENSP00000320604:I247V	I	-	1	0	C5orf4	154181119	1.000000	0.71417	0.995000	0.50966	0.569000	0.35902	4.848000	0.62874	1.977000	0.57605	0.533000	0.62120	ATC		0.552	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		C	154200926	T	C	154200926	3	2	9	1	0	0	0	0	1	0	0	0	2300	1464	51	3	270	3	C5orf4	5	154200926	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	11919322	154200926	26714334	34	659											
DOCK2	1794	hgsc.bcm.edu	37	5	169127100	169127100	+	Silent	SNP	C	C	A	rs141406325	byFrequency	TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr5:169127100C>A	ENST00000256935.8	+	13	1295	c.1215C>A	c.(1213-1215)acC>acA	p.T405T		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	405					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGGACCACCGTGGTGGCCA	0.562																																																0													156	143	148					5																	169127100		2203	4300	6503	SO:0001819	synonymous_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1215C>A	chr5.hg19:g.169127100C>A			Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	hg19	CCDS4371.1																																																																																				0.562	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169127100	C	A	169127100	2	1	9	1	0	0	0	0	0	0	0	1	4689	639	23	4		4	DOCK2	5	169127100	Silent	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	14926174	169127100	11788160	35	660											
PGC	5225	hgsc.bcm.edu	37	6	41712458	41712458	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr6:41712458G>C	ENST00000373025.3	-	2	210	c.148C>G	c.(148-150)Cct>Gct	p.P50A	PGC_ENST00000425343.2_Missense_Mutation_p.P50A	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	50					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTCCAAGCAGGATCATACTTG	0.532																																																0													90	76	81					6																	41712458		2203	4300	6503	SO:0001583	missense	5225				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.148C>G	chr6.hg19:g.41712458G>C	ENSP00000362116:p.Pro50Ala		B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	hg19	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878022	0.33162	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000394278;ENST00000356667;ENST00000425343;ENST00000415707	T;T;T;T	0.65364	1.59;-0.15;0.44;0.44	5.15	4.22	0.49857	Peptidase aspartic (1);	0.459575	0.22142	N	0.064040	T	0.62744	0.2453	M	0.66939	2.045	0.18873	N	0.999988	D	0.71674	0.998	D	0.64687	0.928	T	0.53315	-0.8456	10	0.23302	T	0.38	.	12.4904	0.55897	0.0:0.0:0.8332:0.1668	.	50	P20142	PEPC_HUMAN	A	50;50;50;50;50;54	ENSP00000362116:P50A;ENSP00000349094:P50A;ENSP00000405094:P50A;ENSP00000399429:P54A	ENSP00000349094:P50A	P	-	1	0	PGC	41820436	1.000000	0.71417	0.086000	0.20670	0.005000	0.04900	3.402000	0.52608	2.426000	0.82243	0.555000	0.69702	CCT		0.532	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			C	41712458	G	C	41712458	3	2	9	1	0	0	0	0	1	0	0	0	11787	1174	41	4	1359	4	PGC	6	41712458	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10		41712458	129402609	36	661											
CUL7	9820	hgsc.bcm.edu	37	6	43020188	43020188	+	Missense_Mutation	SNP	G	G	C	rs4711738	byFrequency	TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr6:43020188G>C	ENST00000265348.3	-	2	424	c.339C>G	c.(337-339)gaC>gaG	p.D113E	CUL7_ENST00000535468.1_Missense_Mutation_p.D165E			Q14999	CUL7_HUMAN	cullin 7	113					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGACTTCACGTCGGTTTCCA	0.612																																																0													91	78	83					6																	43020188		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.339C>G	chr6.hg19:g.43020188G>C	ENSP00000265348:p.Asp113Glu		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	hg19	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780558	0.49891	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;T	0.91180	-2.8;-0.03	5.51	-9.29	0.00653	.	0.176300	0.49916	D	0.000124	D	0.89791	0.6817	L	0.36672	1.1	0.09310	P	0.9999999999999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.88870	0.3332	9	0.87932	D	0	-20.9624	25.0489	0.99993	0.2693:0.0:0.7307:0.0	.	165;113	F5H0L1;Q14999	.;CUL7_HUMAN	E	113;165	ENSP00000265348:D113E;ENSP00000438788:D165E	ENSP00000265348:D113E	D	-	3	2	CUL7	43128166	0.000000	0.05858	0.045000	0.18777	0.499000	0.33736	-2.094000	0.01351	-2.277000	0.00677	-1.214000	0.01621	GAC		0.612	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		C	43020188	G	C	43020188	3	2	9	1	0	0	0	0	1	0	0	0	4062	1136	40	4	4953	4	CUL7	6	43020188	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	1307730	43020188	128094879	37	662											
PKHD1	5314	hgsc.bcm.edu	37	6	51523921	51523921	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr6:51523921T>A	ENST00000371117.3	-	61	11278	c.11003A>T	c.(11002-11004)gAt>gTt	p.D3668V		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3668					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTTGGCGAATCACCAATTTC	0.428																																																0													175	161	166					6																	51523921		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11003A>T	chr6.hg19:g.51523921T>A	ENSP00000360158:p.Asp3668Val		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854844	0.71719	.	.	ENSG00000170927	ENST00000371117	D	0.88896	-2.44	6.03	6.03	0.97812	.	0.148294	0.46758	D	0.000263	D	0.92541	0.7631	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.93498	0.6842	10	0.87932	D	0	.	15.7393	0.77876	0.0:0.0:0.0:1.0	.	3668	P08F94	PKHD1_HUMAN	V	3668	ENSP00000360158:D3668V	ENSP00000360158:D3668V	D	-	2	0	PKHD1	51631880	1.000000	0.71417	0.989000	0.46669	0.860000	0.49131	5.307000	0.65762	2.308000	0.77769	0.533000	0.62120	GAT		0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51523921	T	A	51523921	3	1	9	1	0	0	0	0	1	0	0	0	11973	1435	50	5	1249	5	PKHD1	6	51523921	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	8503733	51523921	119591146	38	663											
COL19A1	1310	hgsc.bcm.edu	37	6	70850849	70850849	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr6:70850849G>C	ENST00000322773.4	+	20	1552	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.E106Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	484	Collagen-like 4.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCTTAGGGAGAGCCTTTTAC	0.383																																																0													174	188	183					6																	70850849		2203	4300	6503	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1450G>C	chr6.hg19:g.70850849G>C	ENSP00000316030:p.Glu484Gln		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	hg19	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925830	0.34002	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93906	-3.31;-3.31	4.27	4.27	0.50696	.	0.657664	0.14822	N	0.296417	D	0.92136	0.7507	L	0.52206	1.635	0.80722	D	1	D	0.56746	0.977	P	0.57057	0.812	D	0.88677	0.3199	10	0.16420	T	0.52	.	15.7248	0.77747	0.0:0.0:1.0:0.0	.	484	Q14993	COJA1_HUMAN	Q	484;106	ENSP00000316030:E484Q;ENSP00000377013:E106Q	ENSP00000316030:E484Q	E	+	1	0	COL19A1	70907570	1.000000	0.71417	0.987000	0.45799	0.383000	0.30230	3.488000	0.53229	2.649000	0.89929	0.650000	0.86243	GAG		0.383	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			C	70850849	G	C	70850849	3	2	9	1	0	0	0	0	1	0	0	0	3678	943	33	4	1524	4	COL19A1	6	70850849	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	19326928	70850849	100264218	39	664											
EEF1A1	1915	hgsc.bcm.edu	37	6	74227637	74227637	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr6:74227637T>C	ENST00000316292.9	-	7	2276	c.1285A>G	c.(1285-1287)Atg>Gtg	p.M429V	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.M429V|EEF1A1_ENST00000309268.6_Missense_Mutation_p.M429V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	429					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTCTGTCTCATATCACGAACA	0.403											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													46	49	48					6																	74227637		2203	4300	6503	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1285A>G	chr6.hg19:g.74227637T>C	ENSP00000339063:p.Met429Val	1151	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	hg19	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898780	0.33535	.	.	ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.44482	0.92;0.92;0.92	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.000000	0.85682	U	0.000000	T	0.55321	0.1913	H	0.99919	4.95	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.70208	-0.4935	10	0.87932	D	0	.	10.7978	0.46470	0.0:0.0775:0.0:0.9225	.	429;429;429	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	V	429;429;429;408	ENSP00000339063:M429V;ENSP00000339053:M429V;ENSP00000330054:M429V	ENSP00000339053:M429V	M	-	1	0	EEF1A1	74284358	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	5.900000	0.69853	1.929000	0.55896	0.454000	0.30748	ATG		0.403	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		C	74227637	T	C	74227637	3	2	9	1	0	0	0	0	1	0	0	0	4925	1406	49	3	107	3	EEF1A1	6	74227637	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	3376788	74227637	96887430	40	665											
SGK1	6446	hgsc.bcm.edu	37	6	134494465	134494467	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr6:134494465_134494467delCTT	ENST00000237305.7	-	5	450_452	c.362_364delAAG	c.(361-366)gaagtg>gtg	p.E121del	SGK1_ENST00000367857.5_In_Frame_Del_p.E111del|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000413996.3_In_Frame_Del_p.E135del|SGK1_ENST00000475719.2_In_Frame_Del_p.E121del|SGK1_ENST00000528577.1_In_Frame_Del_p.E149del|SGK1_ENST00000367858.5_In_Frame_Del_p.E216del	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GCATAGAACACTTCTTCTGCCTT	0.389																																																0									,,,	0,4264		0,0,2132					,,,	-3.9	0			112	7,8247		3,1,4123	no	coding,coding,coding,coding	SGK1	NM_005627.3,NM_001143678.1,NM_001143677.1,NM_001143676.1	,,,	3,1,6255	A1A1,A1R,RR		0.0848,0.0,0.0559	,,,	,,,		7,12511				SO:0001651	inframe_deletion	6446			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.362_364delAAG	chr6.hg19:g.134494468_134494470delCTT	ENSP00000237305:p.Glu121del		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	In_Frame_Del	DEL	ENST00000237305.7	hg19	CCDS5170.1																																																																																				0.389	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			-	134494467	CTT	-	134494465	7	5	9	1	0	1	0	1	0	0	0	0	14213	565	20	0	963	0	SGK1	6	134494465	In_Frame_Del	DEL	CTT	TCGA-2Z-A9JD-01A-11D-A42J-10	60266828	134494465	36620602	41	666											
LATS1	9113	hgsc.bcm.edu	37	6	150004253	150004253	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr6:150004253G>C	ENST00000543571.1	-	4	2519	c.1972C>G	c.(1972-1974)Cta>Gta	p.L658V	LATS1_ENST00000392273.3_Missense_Mutation_p.L658V|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.L658V	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTACGATGTAGACGCTGCTGA	0.323																																																0													71	64	66					6																	150004253		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1972C>G	chr6.hg19:g.150004253G>C	ENSP00000437550:p.Leu658Val			Missense_Mutation	SNP	ENST00000543571.1	hg19	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	3.874	-0.027265	0.07589	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.41758	0.99;0.99;0.99	5.63	5.63	0.86233	.	0.000000	0.45606	D	0.000360	T	0.21718	0.0523	N	0.16790	0.44	0.37536	D	0.91811	B;P;B	0.47191	0.059;0.891;0.012	B;P;B	0.47299	0.008;0.543;0.008	T	0.02220	-1.1193	9	.	.	.	.	13.7301	0.62783	0.08:0.0:0.92:0.0	.	510;658;658	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	V	658	ENSP00000437550:L658V;ENSP00000253339:L658V;ENSP00000444678:L658V	.	L	-	1	2	LATS1	150045946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.749000	0.55150	2.814000	0.96858	0.655000	0.94253	CTA		0.323	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		C	150004253	G	C	150004253	3	2	9	1	0	0	0	0	1	0	0	0	8648	933	33	4	1440	4	LATS1	6	150004253	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	15509788	150004253	21110814	42	667											
KIAA1324L	222223	hgsc.bcm.edu	37	7	86568242	86568242	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr7:86568242C>A	ENST00000450689.2	-	7	1067	c.882G>T	c.(880-882)aaG>aaT	p.K294N	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.K127N|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.K54N|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.K294N	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	294						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATGTGCCTGGCTTGCAAGGAA	0.463																																																0													131	122	125					7																	86568242		2203	4300	6503	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.882G>T	chr7.hg19:g.86568242C>A	ENSP00000413445:p.Lys294Asn		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	hg19	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.96|17.96	3.515588|3.515588	0.64634|0.64634	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	.|T;T;T;T	.|0.49432	.|0.99;0.78;0.99;0.78	5.47|5.47	1.68|1.68	0.24146|0.24146	.|Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60521|0.60521	0.2275|0.2275	M|M	0.66939|0.66939	2.045|2.045	0.54753|0.54753	D|D	0.999985|0.999985	.|D;D;D	.|0.69078	.|0.997;0.958;0.958	.|D;P;P	.|0.69654	.|0.965;0.663;0.663	T|T	0.59257|0.59257	-0.7488|-0.7488	5|10	.|0.62326	.|D	.|0.03	.|.	9.0638|9.0638	0.36451|0.36451	0.0:0.7011:0.0:0.2989|0.0:0.7011:0.0:0.2989	.|.	.|294;54;127	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	S|N	255|294;54;294;127	.|ENSP00000413445:K294N;ENSP00000297222:K54N;ENSP00000397377:K294N;ENSP00000402390:K127N	.|ENSP00000297222:K54N	A|K	-|-	1|3	0|2	KIAA1324L|KIAA1324L	86406178|86406178	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.898000|0.898000	0.52572|0.52572	0.565000|0.565000	0.23578|0.23578	0.287000|0.287000	0.22375|0.22375	-0.251000|-0.251000	0.11542|0.11542	GCC|AAG		0.463	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		A	86568242	C	A	86568242	3	1	9	1	0	0	0	0	1	0	0	0	8226	796	28	4	2271	4	KIAA1324L	7	86568242	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10		86568242	72570421	43	668											
PON1	5444	hgsc.bcm.edu	37	7	94931604	94931604	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr7:94931604A>T	ENST00000222381.3	-	8	1053	c.822T>A	c.(820-822)gaT>gaA	p.D274E	PON1_ENST00000542556.1_Missense_Mutation_p.D274E	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	274					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	CTGTCTCAGGATCCACAGATA	0.378																																					GBM(119;715 1622 17358 22490 33240)											0													80	79	80					7																	94931604		2203	4300	6503	SO:0001583	missense	5444			AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"Paraoxonases"	9204	protein-coding gene	gene with protein product	"esterase A", "arylesterase 1"	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.822T>A	chr7.hg19:g.94931604A>T	ENSP00000222381:p.Asp274Glu		B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	hg19	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135537	0.56828	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.58797	0.31;0.31	4.67	-0.246	0.13022	Six-bladed beta-propeller, TolB-like (1);	0.044644	0.85682	D	0.000000	T	0.67767	0.2928	M	0.92367	3.3	0.53005	D	0.999967	D;D	0.57899	0.981;0.968	P;B	0.47941	0.562;0.359	T	0.74937	-0.3494	10	0.87932	D	0	-32.2036	11.0367	0.47804	0.5075:0.0:0.4925:0.0	.	274;274	F5H4W9;P27169	.;PON1_HUMAN	E	274	ENSP00000222381:D274E;ENSP00000444854:D274E	ENSP00000222381:D274E	D	-	3	2	PON1	94769540	0.658000	0.27402	0.985000	0.45067	0.630000	0.37929	-0.167000	0.09940	-0.036000	0.13669	-0.256000	0.11100	GAT		0.378	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		T	94931604	A	T	94931604	3	4	9	1	0	0	0	0	1	0	0	0	12250	330	12	5	253	5	PON1	7	94931604	Missense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	8363362	94931604	64207059	44	669											
TMEM139	135932	hgsc.bcm.edu	37	7	142983809	142983809	+	Silent	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr7:142983809T>C	ENST00000359333.3	+	3	1051	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	TMEM139_ENST00000409541.1_Silent_p.L180L|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409102.1_Silent_p.L180L|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000410004.1_Silent_p.L180L|CASP2_ENST00000392925.2_5'Flank|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409244.1_Silent_p.L180L	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	180						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TCTGCAGAGCTTGGCGGCAGT	0.562																																																0													110	99	103					7																	142983809		2203	4300	6503	SO:0001819	synonymous_variant	135932			AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.538T>C	chr7.hg19:g.142983809T>C			B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Silent	SNP	ENST00000359333.3	hg19	CCDS5878.1																																																																																				0.562	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		C	142983809	T	C	142983809	2	2	9	1	0	0	0	0	0	0	0	1	16059	1606	56	3		3	TMEM139	7	142983809	Silent	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	48052205	142983809	16154854	45	670											
CLCN1	1180	hgsc.bcm.edu	37	7	143047464	143047464	+	Splice_Site	SNP	G	G	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr7:143047464G>T	ENST00000343257.2	+	21	2490		c.e21-1			NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTGGCTGACAGATTGAGGCCT	0.557																																																0													66	58	61					7																	143047464		2203	4300	6503	SO:0001630	splice_region_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2404-1G>T	chr7.hg19:g.143047464G>T			A4D2H5|Q2M202	Splice_Site	SNP	ENST00000343257.2	hg19	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469487	0.63625	.	.	ENSG00000188037	ENST00000343257	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1768	0.86844	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLCN1	142757586	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	8.823000	0.92018	2.302000	0.77476	0.462000	0.41574	.		0.557	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	Intron	T	143047464	G	T	143047464	5	4	9	1	0	0	0	0	0	0	1	0	3464	956	33	4	2485	4	CLCN1	7	143047464	Splice_Site	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	63655	143047464	16091199	46	671											
MTUS1	57509	hgsc.bcm.edu	37	8	17613134	17613134	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr8:17613134G>C	ENST00000262102.6	-	2	407	c.183C>G	c.(181-183)gaC>gaG	p.D61E	MTUS1_ENST00000381862.3_Missense_Mutation_p.D61E|MTUS1_ENST00000519263.1_Missense_Mutation_p.D61E|MTUS1_ENST00000381869.3_Missense_Mutation_p.D61E	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	61					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTACAGCAGGGTCAGTTTCAT	0.413																																																0													159	148	152					8																	17613134		1882	4117	5999	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.183C>G	chr8.hg19:g.17613134G>C	ENSP00000262102:p.Asp61Glu		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	hg19	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	g	13.81	2.347152	0.41599	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.21361	2.99;2.99;2.99;2.01	3.82	2.92	0.33932	.	1.076460	0.07367	N	0.885099	T	0.13200	0.0320	N	0.24115	0.695	0.09310	N	1	P;B;B	0.36535	0.557;0.341;0.341	B;B;B	0.30495	0.116;0.059;0.059	T	0.21724	-1.0237	10	0.72032	D	0.01	0.0574	5.5626	0.17152	0.2502:0.0:0.7498:0.0	.	61;61;61	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	E	61	ENSP00000371293:D61E;ENSP00000262102:D61E;ENSP00000430167:D61E;ENSP00000371286:D61E	ENSP00000262102:D61E	D	-	3	2	MTUS1	17657414	0.000000	0.05858	0.131000	0.22000	0.459000	0.32528	0.483000	0.22292	1.149000	0.42402	0.558000	0.71614	GAC		0.413	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		C	17613134	G	C	17613134	3	2	9	1	0	0	0	0	1	0	0	0	9967	1252	44	4	4004	4	MTUS1	8	17613134	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10		17613134	128750888	47	672											
C8orf80	389643	hgsc.bcm.edu	37	8	27931921	27931923	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	CTG	CTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr8:27931921_27931923delCTG	ENST00000413272.2	-	2	147_149	c.5_7delCAG	c.(4-9)gcagaa>gaa	p.A2del	NUGGC_ENST00000341513.6_In_Frame_Del_p.A2del	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	2					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TCCTTCGTTTCTGCCATTCCTTG	0.438																																																0																																										SO:0001651	inframe_deletion	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.5_7delCAG	chr8.hg19:g.27931921_27931923delCTG	ENSP00000408697:p.Ala2del		Q6ZP73	In_Frame_Del	DEL	ENST00000413272.2	hg19	CCDS47833.1																																																																																				0.438	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		-	27931923	CTG	-	27931921	7	5	9	1	0	1	0	1	0	0	0	0	2441	922	32	0	2455	0	C8orf80	8	27931921	In_Frame_Del	DEL	CTG	TCGA-2Z-A9JD-01A-11D-A42J-10	10318787	27931921	118432101	48	673											
SNAI2	6591	hgsc.bcm.edu	37	8	49831524	49831524	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr8:49831524G>T	ENST00000396822.1	-	4	1006	c.649C>A	c.(649-651)Cac>Aac	p.H217N	SNAI2_ENST00000020945.1_Missense_Mutation_p.H217N			O43623	SNAI2_HUMAN	snail family zinc finger 2	217					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CTGTTGCAGTGAGGGCAAGAA	0.423																																																0													80	80	80					8																	49831524		2203	4300	6503	SO:0001583	missense	6591			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.649C>A	chr8.hg19:g.49831524G>T	ENSP00000380034:p.His217Asn		B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	hg19	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443898	0.83993	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.07327	3.2;3.2	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	L	0.45051	1.395	0.80722	D	1	P	0.37370	0.592	B	0.41135	0.348	T	0.01814	-1.1268	10	0.72032	D	0.01	-12.9153	18.7761	0.91912	0.0:0.0:1.0:0.0	.	217	O43623	SNAI2_HUMAN	N	217	ENSP00000020945:H217N;ENSP00000380034:H217N	ENSP00000020945:H217N	H	-	1	0	SNAI2	49994077	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.430000	0.82344	0.650000	0.86243	CAC		0.423	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		T	49831524	G	T	49831524	3	4	9	1	0	0	0	0	1	0	0	0	14833	1290	45	4	161	4	SNAI2	8	49831524	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	21899603	49831524	96532498	49	674											
CRH	1392	hgsc.bcm.edu	37	8	67089639	67089639	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr8:67089639A>G	ENST00000276571.3	-	2	520	c.74T>C	c.(73-75)cTc>cCc	p.L25P		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	25					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GCGGCTCAGGAGCGCCCTGCA	0.726											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													2	2	2					8																	67089639		1380	3141	4521	SO:0001583	missense	1392				CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"Endogenous ligands"	2355	protein-coding gene	gene with protein product	"corticotropin-releasing factor", "corticoliberin"	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.74T>C	chr8.hg19:g.67089639A>G	ENSP00000276571:p.Leu25Pro	1096	B3KQS4	Missense_Mutation	SNP	ENST00000276571.3	hg19	CCDS6188.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.434760	0.25813	.	.	ENSG00000147571	ENST00000276571	.	.	.	5.59	4.43	0.53597	.	0.209947	0.40908	D	0.000995	T	0.65668	0.2713	M	0.67953	2.075	0.58432	D	0.999999	D	0.53885	0.963	P	0.54401	0.751	T	0.67722	-0.5597	9	0.87932	D	0	.	9.8159	0.40851	0.8272:0.1728:0.0:0.0	.	25	P06850	CRF_HUMAN	P	25	.	ENSP00000276571:L25P	L	-	2	0	CRH	67252193	1.000000	0.71417	0.880000	0.34516	0.177000	0.22998	3.898000	0.56281	0.937000	0.37394	-0.418000	0.06021	CTC		0.726	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		G	67089639	A	G	67089639	3	3	9	1	0	0	0	0	1	0	0	0	3871	304	11	3	520	3	CRH	8	67089639	Missense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	17258115	67089639	79274383	50	675											
ESRP1	54845	hgsc.bcm.edu	37	8	95653652	95653652	+	Nonsense_Mutation	SNP	A	A	T	rs548563810		TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr8:95653652A>T	ENST00000433389.2	+	1	296	c.106A>T	c.(106-108)Aaa>Taa	p.K36*	ESRP1_ENST00000423620.2_Nonsense_Mutation_p.K36*|RP11-22C11.2_ENST00000562760.1_RNA|ESRP1_ENST00000454170.2_Nonsense_Mutation_p.K36*|ESRP1_ENST00000358397.5_Nonsense_Mutation_p.K36*	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	36					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCTGTTCTGGAAAGTCGTGGA	0.537																																																0													92	93	93					8																	95653652		1921	4129	6050	SO:0001587	stop_gained	54845			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.106A>T	chr8.hg19:g.95653652A>T	ENSP00000405738:p.Lys36*		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Nonsense_Mutation	SNP	ENST00000433389.2	hg19	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	A	38	7.048454	0.98029	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170	.	.	.	4.95	2.37	0.29283	.	0.269234	0.36444	N	0.002599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5406	7.2173	0.25967	0.7766:0.145:0.0784:0.0	.	.	.	.	X	36	.	ENSP00000351168:K36X	K	+	1	0	ESRP1	95722828	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.272000	0.43373	0.710000	0.31997	0.533000	0.62120	AAA		0.537	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		T	95653652	A	T	95653652	4	4	9	1	0	0	0	0	0	1	0	0	5260	247	9	5	108	5	ESRP1	8	95653652	Nonsense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	28564013	95653652	50710370	51	676											
OXR1	55074	hgsc.bcm.edu	37	8	107670240	107670240	+	Intron	SNP	A	A	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr8:107670240A>G	ENST00000442977.2	+	3	322				OXR1_ENST00000531443.1_Intron|OXR1_ENST00000312046.6_Missense_Mutation_p.E9G|OXR1_ENST00000452423.2_Intron|OXR1_ENST00000445937.1_Intron|OXR1_ENST00000497705.1_Intron|OXR1_ENST00000517566.2_Intron|RP11-649G15.2_ENST00000518591.1_RNA	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1						adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ACGTTCACCGAGAAGAGTGGG	0.701																																																0													6	10	9					8																	107670240		662	1568	2230	SO:0001627	intron_variant	55074			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.224-21198A>G	chr8.hg19:g.107670240A>G			A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	hg19	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.470777	0.01044	.	.	ENSG00000164830	ENST00000312046	T	0.10005	2.92	4.0	1.95	0.26073	.	.	.	.	.	T	0.03695	0.0105	.	.	.	0.24866	N	0.992312	B	0.02656	0.0	B	0.01281	0.0	T	0.43442	-0.9391	8	0.02654	T	1	.	6.6439	0.22925	0.1057:0.1789:0.7154:0.0	.	9	Q8N573-2	.	G	9	ENSP00000311026:E9G	ENSP00000311026:E9G	E	+	2	0	OXR1	107739416	0.992000	0.36948	0.738000	0.30950	0.020000	0.10135	2.097000	0.41748	0.877000	0.35895	-0.313000	0.08912	GAG		0.701	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		G	107670240	A	G	107670240	1	3	9	0	1	0	0	0	0	0	0	0	11336	304	11	3		3	OXR1	8	107670240	Intron	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	12016588	107670240	38693782	52	677											
EBAG9	9166	hgsc.bcm.edu	37	8	110567083	110567083	+	Missense_Mutation	SNP	G	G	T	rs370306388		TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr8:110567083G>T	ENST00000337573.5	+	4	588	c.288G>T	c.(286-288)aaG>aaT	p.K96N	EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Missense_Mutation_p.K96N|EBAG9_ENST00000395785.2_Missense_Mutation_p.K96N	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	96					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			ACTATTTTAAGGACATGACAC	0.363																																																0													126	116	119					8																	110567083		2203	4300	6503	SO:0001583	missense	9166			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.288G>T	chr8.hg19:g.110567083G>T	ENSP00000337675:p.Lys96Asn		A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	hg19	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480071	0.63849	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.53	2.09	0.27110	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	L	0.52266	1.64	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.62932	-0.6749	9	0.62326	D	0.03	9.6559	5.8258	0.18552	0.261:0.0:0.5919:0.1471	.	96	O00559	RCAS1_HUMAN	N	96	.	ENSP00000337675:K96N	K	+	3	2	EBAG9	110636259	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.315000	0.33608	0.739000	0.32628	-0.181000	0.13052	AAG		0.363	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		T	110567083	G	T	110567083	3	4	9	1	0	0	0	0	1	0	0	0	4881	991	35	4	298	4	EBAG9	8	110567083	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	2896843	110567083	35796939	53	678											
ZFAT	57623	hgsc.bcm.edu	37	8	135521962	135521962	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr8:135521962A>G	ENST00000377838.3	-	15	3566	c.3392T>C	c.(3391-3393)aTc>aCc	p.I1131T	ZFAT_ENST00000429442.2_Missense_Mutation_p.I1119T|ZFAT_ENST00000520214.1_Missense_Mutation_p.I1119T|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000523399.1_Missense_Mutation_p.I1069T|ZFAT_ENST00000520727.1_Missense_Mutation_p.I1119T|ZFAT_ENST00000520356.1_Intron	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1131					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGCTGCAGGATGTTCACGGC	0.587																																																0													118	122	121					8																	135521962		2085	4214	6299	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3392T>C	chr8.hg19:g.135521962A>G	ENSP00000367069:p.Ile1131Thr		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	hg19	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471547	0.84533	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000521673;ENST00000318135;ENST00000523399	T;T;T;T;T	0.16457	2.84;2.34;2.75;2.84;2.78	5.81	5.81	0.92471	.	0.112528	0.64402	D	0.000017	T	0.29126	0.0724	L	0.29908	0.895	0.51767	D	0.999935	D;D;D	0.76494	0.993;0.999;0.999	D;D;D	0.78314	0.977;0.991;0.991	T	0.02821	-1.1106	10	0.24483	T	0.36	-26.8601	15.3472	0.74346	1.0:0.0:0.0:0.0	.	250;1069;1131	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	T	1119;1119;1131;1119;51;1018;1069	ENSP00000427831:I1119T;ENSP00000394501:I1119T;ENSP00000367069:I1131T;ENSP00000428483:I1119T;ENSP00000429091:I1069T	ENSP00000326997:I1018T	I	-	2	0	ZFAT	135591144	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.820000	0.75267	2.221000	0.72209	0.455000	0.32223	ATC		0.587	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		G	135521962	A	G	135521962	3	3	9	1	0	0	0	0	1	0	0	0	17637	333	12	3	347	3	ZFAT	8	135521962	Missense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	24954879	135521962	10842060	54	679											
PTK2	5747	hgsc.bcm.edu	37	8	141685559	141685559	+	Splice_Site	SNP	C	C	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr8:141685559C>T	ENST00000522684.1	-	28	2831	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	PTK2_ENST00000395218.2_Missense_Mutation_p.G868S|PTK2_ENST00000430260.2_Splice_Site_p.D178N|PTK2_ENST00000538769.1_Splice_Site_p.D536N|PTK2_ENST00000521059.1_Splice_Site_p.D868N|PTK2_ENST00000340930.3_Missense_Mutation_p.G868S|PTK2_ENST00000519465.1_Splice_Site_p.D496N|PTK2_ENST00000519419.1_Splice_Site_p.D912N|PTK2_ENST00000517887.1_Splice_Site_p.D912N|PTK2_ENST00000535192.1_Splice_Site_p.D822N	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	868	Interaction with TGFB1I1.|Pro-rich.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCTTCTTTACCTGGTTTACCC	0.383																																																0													169	146	153					8																	141685559		2203	4300	6503	SO:0001630	splice_region_variant	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2602+1G>A	chr8.hg19:g.141685559C>T			B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	hg19	CCDS6381.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	33|33|33	5.217585|5.217585|5.217585	0.95104|0.95104|0.95104	.|.|.	.|.|.	ENSG00000169398|ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000538769;ENST00000519419;ENST00000430260;ENST00000521986|ENST00000395218;ENST00000340930|ENST00000519654	T;T;T;T;T;T;T;T;T;T|T;T|.	0.75821|0.74209|.	-0.93;-0.97;-0.93;-0.93;-0.93;-0.91;-0.91;-0.93;1.48;-0.92|-0.82;-0.81|.	5.73|5.73|5.73	5.73|5.73|5.73	0.89815|0.89815|0.89815	.|.|.	0.045906|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.66416|0.66416|0.66416	0.2787|0.2787|0.2787	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;P;P;P;B;B;B;B;B|D|.	0.38788|0.89917|.	0.0;0.647;0.561;0.611;0.418;0.0;0.0;0.112;0.177|1.0|.	B;B;B;B;B;B;B;B;B|D|.	0.41440|0.78314|.	0.003;0.357;0.169;0.159;0.157;0.003;0.003;0.048;0.159|0.991|.	T|T|T	0.60296|0.60296|0.60296	-0.7291|-0.7291|-0.7291	10|9|5	0.41790|0.08381|.	T|T|.	0.15|0.77|.	.|.|.	19.8869|19.8869|19.8869	0.96915|0.96915|0.96915	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	563;788;868;890;822;820;695;536;496|868|.	B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4|B4E2N6|.	.;.;FAK1_HUMAN;.;.;.;.;.;.|.|.	N|S|K	868;822;496;912;868;820;789;563;540;536;912;178;566|868|832	ENSP00000429911:D868N;ENSP00000438009:D822N;ENSP00000429170:D496N;ENSP00000429082:D912N;ENSP00000429474:D868N;ENSP00000428492:D540N;ENSP00000445742:D536N;ENSP00000429129:D912N;ENSP00000403416:D178N;ENSP00000430603:D566N|ENSP00000378644:G868S;ENSP00000341189:G868S|.	ENSP00000346424:D789N|ENSP00000341189:G868S|.	D|G|R	-|-|-	1|1|2	0|0|0	PTK2|PTK2|PTK2	141754741|141754741|141754741	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	7.332000|7.332000|7.332000	0.79203|0.79203|0.79203	2.693000|2.693000|2.693000	0.91896|0.91896|0.91896	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|GGT|AGA		0.383	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	Missense_Mutation	T	141685559	C	T	141685559	5	4	9	1	0	0	0	0	0	0	1	0	12768	695	24	2	576	2	PTK2	8	141685559	Splice_Site	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	6163597	141685559	4678463	55	680											
GPT	2875	hgsc.bcm.edu	37	8	145732381	145732381	+	Nonstop_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr8:145732381T>C	ENST00000528431.1	+	12	1646	c.1489T>C	c.(1489-1491)Tga>Cga	p.*497R	MFSD3_ENST00000301327.4_5'Flank|GPT_ENST00000394955.2_Nonstop_Mutation_p.*497R			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	0					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CGAGTACTCCTGAGCACCCCA	0.617																																																0													44	45	45					8																	145732381		2201	4300	6501	SO:0001578	stop_lost	2875				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1489T>C	chr8.hg19:g.145732381T>C	ENSP00000433586:p.*497Argext*?		B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	hg19	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819054	0.32145	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0974	0.53763	0.0:0.0:0.0:1.0	.	.	.	.	R	497	.	.	X	+	1	0	GPT	145703189	1.000000	0.71417	0.992000	0.48379	0.454000	0.32378	2.085000	0.41634	1.736000	0.51660	0.459000	0.35465	TGA		0.617	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			C	145732381	T	C	145732381	4	2	9	1	0	0	0	0	0	0	0	0	6739	1593	55	3	1531	3	GPT	8	145732381	Nonstop_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	4046822	145732381	631641	56	681											
SMARCA2	6595	hgsc.bcm.edu	37	9	2115822	2115822	+	Splice_Site	SNP	G	G	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr9:2115822G>C	ENST00000382203.1	+	25	3666	c.3457G>C	c.(3457-3459)Gat>Cat	p.D1153H	SMARCA2_ENST00000357248.2_Splice_Site_p.D1153H|SMARCA2_ENST00000349721.2_Splice_Site_p.D1153H|SMARCA2_ENST00000382194.1_Splice_Site_p.D1153H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1153	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCCCAAACAGGATCTGCAGGC	0.562																																																0													24	23	23					9																	2115822		2203	4300	6503	SO:0001630	splice_region_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3457-1G>C	chr9.hg19:g.2115822G>C			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	hg19	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868893	0.72065	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.67	5.67	0.87782	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91838	0.7417	H	0.97611	4.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.94201	0.7450	9	.	.	.	-30.3516	19.7699	0.96359	0.0:0.0:1.0:0.0	.	754;1153;1153	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	H	1153	ENSP00000265773:D1153H;ENSP00000349788:D1153H;ENSP00000371638:D1153H;ENSP00000371629:D1153H	.	D	+	1	0	SMARCA2	2105822	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.869000	0.99810	2.680000	0.91292	0.563000	0.77884	GAT		0.562	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	Missense_Mutation	C	2115822	G	C	2115822	5	2	9	1	0	0	0	0	0	0	1	0	14775	1188	41	4	3551	4	SMARCA2	9	2115822	Splice_Site	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10		2115822	139097609	57	682											
TLN1	7094	hgsc.bcm.edu	37	9	35706215	35706215	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr9:35706215T>C	ENST00000314888.9	-	40	5692	c.5339A>G	c.(5338-5340)aAg>aGg	p.K1780R	TLN1_ENST00000540444.1_Missense_Mutation_p.K1764R|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1780	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCAGCCTCCTTGGCAGTGTA	0.567																																																0													141	142	141					9																	35706215		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5339A>G	chr9.hg19:g.35706215T>C	ENSP00000316029:p.Lys1780Arg		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.802610	0.70682	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.17213	2.29;2.29	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	L	0.56769	1.78	0.80722	D	1	D	0.60575	0.988	P	0.54401	0.751	T	0.01684	-1.1296	10	0.41790	T	0.15	-22.297	15.0599	0.71944	0.0:0.0:0.0:1.0	.	1780	Q9Y490	TLN1_HUMAN	R	1780;1764	ENSP00000316029:K1780R;ENSP00000442981:K1764R	ENSP00000316029:K1780R	K	-	2	0	TLN1	35696215	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.036000	0.88901	2.033000	0.60031	0.454000	0.30748	AAG		0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		C	35706215	T	C	35706215	3	2	9	1	0	0	0	0	1	0	0	0	15952	1609	56	3	2358	3	TLN1	9	35706215	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	33590393	35706215	105507216	58	683											
TJP2	9414	hgsc.bcm.edu	37	9	71855017	71855017	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr9:71855017T>G	ENST00000377245.4	+	17	2728	c.2520T>G	c.(2518-2520)ttT>ttG	p.F840L	TJP2_ENST00000535702.1_Missense_Mutation_p.F844L|TJP2_ENST00000453658.2_Missense_Mutation_p.F817L|TJP2_ENST00000265384.7_Missense_Mutation_p.F840L|TJP2_ENST00000348208.4_Missense_Mutation_p.F840L|TJP2_ENST00000539225.1_Missense_Mutation_p.F871L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	840	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GAAAGTTATTTGATCAAGCCA	0.353																																																0													67	66	66					9																	71855017		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2520T>G	chr9.hg19:g.71855017T>G	ENSP00000366453:p.Phe840Leu		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	hg19	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254434	0.59212	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.93	0.821	0.18799	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.263501	0.38837	N	0.001554	T	0.13030	0.0316	L	0.29908	0.895	0.36065	D	0.841715	B;B;B;B;B	0.32188	0.073;0.026;0.073;0.066;0.359	B;B;B;B;B	0.36092	0.053;0.138;0.053;0.217;0.157	T	0.16305	-1.0407	10	0.45353	T	0.12	.	10.2592	0.43416	0.0:0.2837:0.0:0.7163	.	871;844;840;840;840	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	L	817;840;840;840;844;871	ENSP00000392178:F817L;ENSP00000366453:F840L;ENSP00000345893:F840L;ENSP00000265384:F840L;ENSP00000442090:F844L;ENSP00000438262:F871L	ENSP00000265384:F840L	F	+	3	2	TJP2	71044837	0.944000	0.32072	0.950000	0.38849	0.987000	0.75469	0.031000	0.13710	-0.088000	0.12506	0.533000	0.62120	TTT		0.353	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		G	71855017	T	G	71855017	3	3	9	1	0	0	0	0	1	0	0	0	15935	1809	63	5	2743	5	TJP2	9	71855017	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	36148802	71855017	69358414	59	684											
C9orf5	23731	hgsc.bcm.edu	37	9	111849612	111849612	+	Silent	SNP	G	G	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr9:111849612G>A	ENST00000374586.3	-	6	1192	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	387						integral component of membrane (GO:0016021)											CAAGCTTTTTGAGTATCCAGA	0.358																																																0													72	65	67					9																	111849612		1808	4078	5886	SO:0001819	synonymous_variant	23731			AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1161C>T	chr9.hg19:g.111849612G>A			B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP	ENST00000374586.3	hg19	CCDS43858.1																																																																																				0.358	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		A	111849612	G	A	111849612	2	1	9	1	0	0	0	0	0	0	0	1	2488	1277	45	2		2	C9orf5	9	111849612	Silent	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	39994595	111849612	29363819	60	685											
DENND1A	57706	hgsc.bcm.edu	37	9	126143930	126143930	+	Silent	SNP	C	C	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr9:126143930C>T	ENST00000373624.2	-	22	3012	c.2811G>A	c.(2809-2811)aaG>aaA	p.K937K	DENND1A_ENST00000542603.1_Silent_p.K722K|DENND1A_ENST00000394219.3_Silent_p.K948K|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	937	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCAGCCCCTGCTTGGTCTCAG	0.692																																																0													10	13	12					9																	126143930		2174	4283	6457	SO:0001819	synonymous_variant	57706			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2811G>A	chr9.hg19:g.126143930C>T			A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	hg19	CCDS35133.1																																																																																				0.692	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		T	126143930	C	T	126143930	2	4	9	1	0	0	0	0	0	0	0	1	4428	796	28	2		2	DENND1A	9	126143930	Silent	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	14294318	126143930	15069501	61	686											
C9orf119	375757	hgsc.bcm.edu	37	9	131038966	131038966	+	Frame_Shift_Del	DEL	C	C	-	rs191475291	byFrequency	TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr9:131038966delC	ENST00000320188.5	+	2	358	c.358delC	c.(358-360)cccfs	p.P120fs	SWI5_ENST00000419867.2_Frame_Shift_Del_p.P55fs|GOLGA2_ENST00000490628.1_5'Flank|GOLGA2_ENST00000421699.2_5'Flank|SWI5_ENST00000608796.1_Frame_Shift_Del_p.P55fs|SWI5_ENST00000418976.1_Intron|SWI5_ENST00000495313.1_Intron|GOLGA2_ENST00000609374.1_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	120					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											ATCAGACTTTCCCCTCGGATT	0.602																																																0													120	127	125					9																	131038966		1912	4128	6040	SO:0001589	frameshift_variant	375757			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 119"	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.358delC	chr9.hg19:g.131038966delC	ENSP00000316609:p.Pro120fs		Q5SYX7|Q5SYX8|Q8N2W6	Frame_Shift_Del	DEL	ENST00000320188.5	hg19	CCDS43883.1																																																																																				0.602	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		-	131038966	C	-	131038966	7	5	9	1	0	1	0	1	0	0	0	0	2454	855	30	0	364	0	C9orf119	9	131038966	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JD-01A-11D-A42J-10	4895036	131038966	10174465	62	687											
ABL1	25	hgsc.bcm.edu	37	9	133748374	133748374	+	Silent	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr9:133748374T>C	ENST00000318560.5	+	6	1416	c.1035T>C	c.(1033-1035)acT>acC	p.T345T		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	ACATGGCCACTCAGATCTCGT	0.582			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													72	58	63					9																	133748374		2203	4300	6503	SO:0001819	synonymous_variant	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1035T>C	chr9.hg19:g.133748374T>C			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	hg19	CCDS35166.1																																																																																				0.582	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		C	133748374	T	C	133748374	2	2	9	1	0	0	0	0	0	0	0	1	92	1538	54	3		3	ABL1	9	133748374	Silent	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	2709408	133748374	7465057	63	688											
KIAA0649	9858	hgsc.bcm.edu	37	9	138379517	138379517	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr9:138379517G>C	ENST00000356818.2	+	4	3710	c.3161G>C	c.(3160-3162)gGc>gCc	p.G1054A	PPP1R26_ENST00000605660.1_Missense_Mutation_p.G1054A|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G1054A|PPP1R26_ENST00000401470.3_Missense_Mutation_p.G1054A|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G1054A	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1054					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TGGAGGGGGGGCGTCGGGAGC	0.731																																																0													3	4	3					9																	138379517		1868	3764	5632	SO:0001583	missense	9858			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3161G>C	chr9.hg19:g.138379517G>C	ENSP00000349274:p.Gly1054Ala		Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	hg19	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	1.308	-0.602936	0.03744	.	.	ENSG00000196422	ENST00000356818	T	0.09538	2.97	4.83	-2.28	0.06826	.	0.939982	0.08989	N	0.864613	T	0.04861	0.0131	L	0.29908	0.895	0.09310	N	1	B	0.31459	0.324	B	0.31686	0.134	T	0.36841	-0.9731	10	0.02654	T	1	-13.12	0.8556	0.01182	0.2412:0.1264:0.3609:0.2714	.	1054	Q5T8A7	PPR26_HUMAN	A	1054	ENSP00000349274:G1054A	ENSP00000349274:G1054A	G	+	2	0	KIAA0649	137519338	0.153000	0.22777	0.000000	0.03702	0.003000	0.03518	0.409000	0.21082	-0.377000	0.07930	0.555000	0.69702	GGC		0.731	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		C	138379517	G	C	138379517	3	2	9	1	0	0	0	0	1	0	0	0	8189	1203	42	4	3163	4	KIAA0649	9	138379517	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	4631143	138379517	2833914	64	689											
SEC16A	9919	hgsc.bcm.edu	37	9	139369535	139369535	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr9:139369535A>G	ENST00000371706.3	-	1	2032	c.1999T>C	c.(1999-2001)Ttt>Ctt	p.F667L	SEC16A_ENST00000431893.2_Missense_Mutation_p.F667L|SEC16A_ENST00000313050.7_Missense_Mutation_p.F845L|SEC16A_ENST00000290037.6_Missense_Mutation_p.F667L			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	667					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GACACAGAAAAGTTAATGGGC	0.498																																																0													43	43	43					9																	139369535		1941	4138	6079	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1999T>C	chr9.hg19:g.139369535A>G	ENSP00000360771:p.Phe667Leu		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	hg19		.	.	.	.	.	.	.	.	.	.	A	13.94	2.387911	0.42308	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.22539	1.95;1.96;1.95;1.96	5.64	-3.27	0.05048	.	0.400968	0.28042	N	0.016839	T	0.13372	0.0324	M	0.64997	1.995	0.09310	N	0.999999	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.13407	0.004;0.009;0.009	T	0.20075	-1.0286	10	0.23891	T	0.37	-5.91	0.7546	0.00996	0.4548:0.1181:0.199:0.2281	.	845;667;667	F1T0I1;O15027-5;O15027-4	.;.;.	L	845;667;667;667	ENSP00000325827:F845L;ENSP00000360771:F667L;ENSP00000290037:F667L;ENSP00000387583:F667L	ENSP00000290037:F667L	F	-	1	0	SEC16A	138489356	0.012000	0.17670	0.000000	0.03702	0.039000	0.13416	0.012000	0.13287	-0.356000	0.08187	0.528000	0.53228	TTT		0.498	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		G	139369535	A	G	139369535	3	3	9	1	0	0	0	0	1	0	0	0	13992	72	3	3	4660	3	SEC16A	9	139369535	Missense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	990018	139369535	1843896	65	690											
ATP5C1	509	hgsc.bcm.edu	37	10	7842038	7842038	+	Silent	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr10:7842038T>C	ENST00000356708.7	+	6	700	c.621T>C	c.(619-621)aaT>aaC	p.N207N	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Silent_p.N160N|ATP5C1_ENST00000335698.4_Silent_p.N207N	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	207					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTCCCTTAATACCGTTGCAA	0.323																																					Melanoma(143;1012 1820 16249 30920 33158)											0													114	122	119					10																	7842038		2203	4300	6503	SO:0001819	synonymous_variant	509			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.621T>C	chr10.hg19:g.7842038T>C			A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Silent	SNP	ENST00000356708.7	hg19	CCDS31142.1																																																																																				0.323	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		C	7842038	T	C	7842038	2	2	9	1	0	0	0	0	0	0	0	1	1149	1403	49	3		3	ATP5C1	10	7842038	Silent	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10		7842038	127692709	66	691											
ARID5B	84159	hgsc.bcm.edu	37	10	63851119	63851119	+	Silent	SNP	C	C	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr10:63851119C>T	ENST00000279873.7	+	10	2307	c.1897C>T	c.(1897-1899)Ctg>Ttg	p.L633L	ARID5B_ENST00000309334.5_Silent_p.L390L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	633					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGTGGACCAGCTGGGCAGTGA	0.552																																																0													65	58	60					10																	63851119		2203	4300	6503	SO:0001819	synonymous_variant	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1897C>T	chr10.hg19:g.63851119C>T			B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	hg19	CCDS31208.1																																																																																				0.552	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		T	63851119	C	T	63851119	2	4	9	1	0	0	0	0	0	0	0	1	922	796	28	2		2	ARID5B	10	63851119	Silent	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	56009081	63851119	71683628	67	692											
LDB3	11155	hgsc.bcm.edu	37	10	88441289	88441290	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr10:88441289_88441290delCC	ENST00000361373.4	+	4	439_440	c.418_419delCC	c.(418-420)cccfs	p.P140fs	LDB3_ENST00000372056.4_Frame_Shift_Del_p.P140fs|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000310944.6_Frame_Shift_Del_p.P140fs|LDB3_ENST00000542786.1_Frame_Shift_Del_p.P140fs|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000429277.2_Frame_Shift_Del_p.P140fs|LDB3_ENST00000263066.6_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GGAGCTCAGGCCCACCTTTAGC	0.733																																																0																																										SO:0001589	frameshift_variant	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.418_419delCC	chr10.hg19:g.88441289_88441290delCC	ENSP00000355296:p.Pro140fs			Frame_Shift_Del	DEL	ENST00000361373.4	hg19	CCDS7377.1																																																																																				0.733	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			-	88441290	CC	-	88441289	7	5	9	1	0	1	0	1	0	0	0	0	8699	739	26	0	432	0	LDB3	10	88441289	Frame_Shift_Del	DEL	CC	TCGA-2Z-A9JD-01A-11D-A42J-10	24590170	88441289	47093458	68	693											
PDZD8	118987	hgsc.bcm.edu	37	10	119044910	119044910	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr10:119044910T>C	ENST00000334464.5	-	5	1573	c.1334A>G	c.(1333-1335)tAt>tGt	p.Y445C	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	445	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AGGCCTTTCATAGTACACCAG	0.433																																																0													62	61	61					10																	119044910		2203	4300	6503	SO:0001583	missense	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1334A>G	chr10.hg19:g.119044910T>C	ENSP00000334642:p.Tyr445Cys		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	hg19	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779065	0.70107	.	.	ENSG00000165650	ENST00000334464	T	0.73575	-0.76	5.82	5.82	0.92795	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	D	0.86062	0.5843	M	0.74546	2.27	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.87636	0.2519	10	0.87932	D	0	-11.1467	16.1776	0.81862	0.0:0.0:0.0:1.0	.	445	Q8NEN9	PDZD8_HUMAN	C	445	ENSP00000334642:Y445C	ENSP00000334642:Y445C	Y	-	2	0	PDZD8	119034900	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.139000	0.71728	2.222000	0.72286	0.477000	0.44152	TAT		0.433	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		C	119044910	T	C	119044910	3	2	9	1	0	0	0	0	1	0	0	0	11707	1406	49	3	2134	3	PDZD8	10	119044910	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	30603621	119044910	16489837	69	694											
SFXN4	119559	hgsc.bcm.edu	37	10	120919242	120919242	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr10:120919242T>A	ENST00000355697.2	-	6	377	c.358A>T	c.(358-360)Acg>Tcg	p.T120S	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.T111S	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	120					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TTGCTCACCGTGGGTGCCATG	0.602																																																0													116	89	98					10																	120919242		2203	4300	6503	SO:0001583	missense	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.358A>T	chr10.hg19:g.120919242T>A	ENSP00000347924:p.Thr120Ser		Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	hg19	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	T	0.212	-1.035964	0.02029	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000369131;ENST00000419372	T;T	0.30714	1.52;1.52	3.76	-5.8	0.02347	.	1.090950	0.07109	N	0.841756	T	0.19765	0.0475	L	0.36672	1.1	0.09310	N	1	B	0.21225	0.053	B	0.27076	0.076	T	0.40924	-0.9537	10	0.87932	D	0	-9.8843	2.055	0.03579	0.5105:0.0894:0.134:0.266	.	120	Q6P4A7	SFXN4_HUMAN	S	120;111;4;4	ENSP00000347924:T120S;ENSP00000333200:T111S	ENSP00000333200:T111S	T	-	1	0	SFXN4	120909232	0.530000	0.26330	0.224000	0.23877	0.001000	0.01503	-0.849000	0.04322	-1.211000	0.02624	-2.509000	0.00188	ACG		0.602	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		A	120919242	T	A	120919242	3	1	9	1	0	0	0	0	1	0	0	0	14203	1696	59	5	691	5	SFXN4	10	120919242	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	1874332	120919242	14615505	70	695											
ACADSB	36	hgsc.bcm.edu	37	10	124793964	124793964	+	Silent	SNP	A	A	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr10:124793964A>C	ENST00000358776.4	+	2	149	c.135A>C	c.(133-135)acA>acC	p.T45T	ACADSB_ENST00000368869.4_5'UTR|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	45					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TCAATATAACAAATAATGGAA	0.373																																																0													99	98	98					10																	124793964		2203	4300	6503	SO:0001819	synonymous_variant	36			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.135A>C	chr10.hg19:g.124793964A>C			B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	ENST00000358776.4	hg19	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	A	3.942	-0.014024	0.07681	.	.	ENSG00000196177	ENST00000411816	.	.	.	4.92	-2.44	0.06502	.	.	.	.	.	T	0.29223	0.0727	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	T	0.32613	-0.9900	4	.	.	.	.	7.4231	0.27083	0.349:0.5011:0.1499:0.0	.	.	.	.	P	51	.	.	Q	+	2	0	ACADSB	124783954	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.032000	0.13732	-0.640000	0.05495	0.482000	0.46254	CAA		0.373	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		C	124793964	A	C	124793964	2	2	9	1	0	0	0	0	0	0	0	1	115	117	5	5		5	ACADSB	10	124793964	Silent	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	3874722	124793964	10740783	71	696											
RRP8	23378	hgsc.bcm.edu	37	11	6624661	6624661	+	Silent	SNP	A	A	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr11:6624661A>T	ENST00000254605.6	-	1	189	c.72T>A	c.(70-72)ccT>ccA	p.P24P	ILK_ENST00000396751.2_5'Flank|RRP8_ENST00000534343.1_Silent_p.P24P|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000528995.1_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	24					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CCGCAGGCGGAGGTCGTGAGA	0.662																																																0													18	19	19					11																	6624661		2195	4290	6485	SO:0001819	synonymous_variant	23378			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.72T>A	chr11.hg19:g.6624661A>T			Q7KZ78|Q9BVM6	Silent	SNP	ENST00000254605.6	hg19	CCDS31411.1																																																																																				0.662	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		T	6624661	A	T	6624661	2	4	9	1	0	0	0	0	0	0	0	1	13696	291	11	5		5	RRP8	11	6624661	Silent	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10		6624661	128381855	72	697											
GLYAT	10249	hgsc.bcm.edu	37	11	58482795	58482795	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr11:58482795C>A	ENST00000344743.3	-	3	324	c.183G>T	c.(181-183)caG>caT	p.Q61H	GLYAT_ENST00000278400.3_Missense_Mutation_p.Q61H|GLYAT_ENST00000529732.1_Missense_Mutation_p.Q61H	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	61					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TTACCTGCTCCTGAGGGCAGA	0.403																																																0													95	83	87					11																	58482795		2201	4295	6496	SO:0001583	missense	10249			AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.183G>T	chr11.hg19:g.58482795C>A	ENSP00000340200:p.Gln61His		O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	hg19	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407287	0.42715	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.19105	2.17;2.17;2.17	5.45	-0.0385	0.13880	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.572184	0.17708	N	0.164699	T	0.28665	0.0710	M	0.92077	3.27	0.28386	N	0.919319	B;B	0.26041	0.043;0.14	B;B	0.28709	0.033;0.093	T	0.35226	-0.9797	10	0.72032	D	0.01	-7.5927	3.2923	0.06953	0.1842:0.3996:0.0:0.4162	.	61;61	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	H	61	ENSP00000340200:Q61H;ENSP00000431688:Q61H;ENSP00000278400:Q61H	ENSP00000278400:Q61H	Q	-	3	2	GLYAT	58239371	0.343000	0.24818	0.996000	0.52242	0.948000	0.59901	0.352000	0.20113	0.105000	0.17753	0.650000	0.86243	CAG		0.403	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			A	58482795	C	A	58482795	3	1	9	1	0	0	0	0	1	0	0	0	6481	680	24	4	727	4	GLYAT	11	58482795	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	51858134	58482795	76523721	73	698											
PLA2G16	11145	hgsc.bcm.edu	37	11	63342507	63342507	+	Silent	SNP	G	G	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr11:63342507G>A	ENST00000323646.5	-	4	753	c.399C>T	c.(397-399)gtC>gtT	p.V133V	PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_Silent_p.V133V	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	133					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						CAGCGATGATGACATCTCTGA	0.483																																																0													90	79	83					11																	63342507		2201	4298	6499	SO:0001819	synonymous_variant	11145			X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"adipose-specific PLA2"	613867	"HRAS-like suppressor 3"	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.399C>T	chr11.hg19:g.63342507G>A			B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Silent	SNP	ENST00000323646.5	hg19	CCDS8047.1																																																																																				0.483	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396632.1	NM_001128203		A	63342507	G	A	63342507	2	1	9	1	0	0	0	0	0	0	0	1	11995	1277	45	2		2	PLA2G16	11	63342507	Silent	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	4859712	63342507	71664009	74	699											
RTN3	10313	hgsc.bcm.edu	37	11	63487846	63487846	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr11:63487846A>T	ENST00000377819.5	+	3	2026	c.1872A>T	c.(1870-1872)gaA>gaT	p.E624D	RTN3_ENST00000540798.1_Missense_Mutation_p.E512D|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.E605D|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	624					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATGAGACAGAATTCTCATTAA	0.393																																																0													69	74	72					11																	63487846		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1872A>T	chr11.hg19:g.63487846A>T	ENSP00000367050:p.Glu624Asp		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	hg19	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704085	0.30232	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.25749	1.78;1.78;1.78	4.6	2.0	0.26442	.	0.000000	0.33040	N	0.005359	T	0.13030	0.0316	N	0.14661	0.345	0.09310	N	0.999999	P;P;P	0.46512	0.879;0.808;0.879	B;B;B	0.39590	0.304;0.16;0.304	T	0.11991	-1.0565	10	0.54805	T	0.06	0.0791	8.2702	0.31840	0.5995:0.4005:0.0:0.0	.	512;624;605	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	D	624;605;512	ENSP00000367050:E624D;ENSP00000344106:E605D;ENSP00000442733:E512D	ENSP00000344106:E605D	E	+	3	2	RTN3	63244422	0.150000	0.22732	0.061000	0.19648	0.633000	0.38033	1.087000	0.30865	0.853000	0.35312	0.459000	0.35465	GAA		0.393	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		T	63487846	A	T	63487846	3	4	9	1	0	0	0	0	1	0	0	0	13733	98	4	5	1882	5	RTN3	11	63487846	Missense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	145339	63487846	71518670	75	700											
SAC3D1	10004	hgsc.bcm.edu	37	11	64811959	64811959	+	IGR	SNP	C	C	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr11:64811959C>T	ENST00000358658.3	-	0	2699				SAC3D1_ENST00000398846.1_Silent_p.V279V|SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000531072.1_Silent_p.V279V	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCTTCATGGTCAACCTCTTGG	0.657																																																0													44	48	47					11																	64811959		1994	4161	6155	SO:0001628	intergenic_variant	29901			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595		chr11.hg19:g.64811959C>T			C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	hg19	CCDS31604.1																																																																																				0.657	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		T	64811959	C	T	64811959	1	4	9	0	1	0	0	0	0	0	0	0	13808	813	29	2		2	SAC3D1	11	64811959	IGR	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	1324113	64811959	70194557	76	701											
PPFIA1	8500	hgsc.bcm.edu	37	11	70179622	70179622	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr11:70179622A>C	ENST00000253925.7	+	10	1474	c.1259A>C	c.(1258-1260)gAa>gCa	p.E420A	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.E420A	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	420					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGACAGATGGAAGCACAGTTG	0.532																																																0													145	118	128					11																	70179622		2200	4294	6494	SO:0001583	missense	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1259A>C	chr11.hg19:g.70179622A>C	ENSP00000253925:p.Glu420Ala		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	hg19	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.904811	0.92035	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	D;D	0.83837	-1.77;-1.77	5.48	5.48	0.80851	.	0.000000	0.64402	U	0.000001	D	0.88804	0.6536	M	0.80616	2.505	0.58432	D	0.999999	P;D	0.54964	0.762;0.969	P;P	0.53593	0.542;0.73	D	0.90559	0.4514	10	0.87932	D	0	.	15.6079	0.76689	1.0:0.0:0.0:0.0	.	420;420	Q13136;Q13136-2	LIPA1_HUMAN;.	A	420	ENSP00000253925:E420A;ENSP00000374198:E420A	ENSP00000253925:E420A	E	+	2	0	PPFIA1	69857270	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.070000	0.93974	2.087000	0.62958	0.454000	0.30748	GAA		0.532	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		C	70179622	A	C	70179622	3	2	9	1	0	0	0	0	1	0	0	0	12311	246	9	5	1293	5	PPFIA1	11	70179622	Missense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	5367663	70179622	64826894	77	702											
C12orf35	55196	hgsc.bcm.edu	37	12	32134899	32134899	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr12:32134899T>A	ENST00000312561.4	+	4	1424	c.1010T>A	c.(1009-1011)tTc>tAc	p.F337Y	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	337																	ATTGGAAATTTCACTAACTTG	0.398																																																0													87	84	85					12																	32134899		2203	4300	6503	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1010T>A	chr12.hg19:g.32134899T>A	ENSP00000310338:p.Phe337Tyr		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	hg19	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090401	0.55968	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.07908	3.77;3.15	5.45	-2.32	0.06745	.	0.655283	0.14267	N	0.330452	T	0.04407	0.0121	N	0.24115	0.695	0.09310	N	1	B	0.18013	0.025	B	0.17433	0.018	T	0.42207	-0.9465	9	.	.	.	.	5.6415	0.17567	0.1296:0.3781:0.0:0.4923	.	337	Q9HCM1	CL035_HUMAN	Y	337	ENSP00000310338:F337Y;ENSP00000370442:F337Y	.	F	+	2	0	C12orf35	32026166	0.000000	0.05858	0.001000	0.08648	0.163000	0.22366	-0.100000	0.10990	-0.329000	0.08527	0.454000	0.30748	TTC		0.398	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		A	32134899	T	A	32134899	3	1	9	1	0	0	0	0	1	0	0	0	1684	1783	62	5	1012	5	C12orf35	12	32134899	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10		32134899	101716996	78	703											
GXYLT1	283464	hgsc.bcm.edu	37	12	42481670	42481671	+	Missense_Mutation	DNP	CA	CA	TG	rs202200134|rs200973030		TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr12:42481670_42481671CA>TG	ENST00000398675.3	-	8	1472_1473	c.1240_1241TG>CA	c.(1240-1242)TGt>CAt	p.C414H	GXYLT1_ENST00000280876.6_Missense_Mutation_p.C383H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	414					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AATTTTTCCACAGTATGTATGC	0.312																																																0																																										SO:0001583	missense	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1240_1241delinsTG	chr12.hg19:g.42481670_42481671delinsTG	ENSP00000381666:p.Cys414His		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	hg19	CCDS41772.1																																																																																				0.312	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		TG	42481671	CA	TG	42481670	3	4	9	1	0	0	0	0	1	0	0	0	6905	478	17	2	85	2	GXYLT1	12	42481670	Missense_Mutation	DNP	CA	TCGA-2Z-A9JD-01A-11D-A42J-10	10346771	42481670	91370225	79	704											
KRT2	3849	hgsc.bcm.edu	37	12	53040651	53040651	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr12:53040651C>A	ENST00000309680.3	-	7	1363	c.1342G>T	c.(1342-1344)Gcc>Tcc	p.A448S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	448	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGCTGCAGGGCCTCCTCCAGG	0.587																																																0													104	92	96					12																	53040651		2203	4300	6503	SO:0001583	missense	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1342G>T	chr12.hg19:g.53040651C>A	ENSP00000310861:p.Ala448Ser		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	hg19	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707130	0.89018	.	.	ENSG00000172867	ENST00000309680	D	0.88818	-2.43	4.48	3.59	0.41128	Filament (1);	.	.	.	.	D	0.94905	0.8353	M	0.89601	3.045	0.40673	D	0.98223	D	0.89917	1.0	D	0.87578	0.998	D	0.95802	0.8834	9	0.87932	D	0	.	12.9841	0.58581	0.0:0.9208:0.0:0.0792	.	448	P35908	K22E_HUMAN	S	448	ENSP00000310861:A448S	ENSP00000310861:A448S	A	-	1	0	KRT2	51326918	1.000000	0.71417	0.991000	0.47740	0.969000	0.65631	4.827000	0.62723	1.257000	0.44085	0.563000	0.77884	GCC		0.587	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		A	53040651	C	A	53040651	3	1	9	1	0	0	0	0	1	0	0	0	8459	739	26	4	589	4	KRT2	12	53040651	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	10558981	53040651	80811244	80	705											
MTERFD3	80298	hgsc.bcm.edu	37	12	107372223	107372223	+	Silent	SNP	A	A	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr12:107372223A>G	ENST00000552029.1	-	2	2338	c.270T>C	c.(268-270)gaT>gaC	p.D90D	C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000240050.4_Silent_p.D90D|MTERFD3_ENST00000392830.2_Silent_p.D90D			Q49AM1	MTEF2_HUMAN		90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CAGCAGTCTCATCGGCACCTA	0.423																																																0													128	134	132					12																	107372223		2203	4300	6503	SO:0001819	synonymous_variant	80298																														ENST00000552029.1:c.270T>C	chr12.hg19:g.107372223A>G			Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	ENST00000552029.1	hg19	CCDS9111.1																																																																																				0.423	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			G	107372223	A	G	107372223	2	3	9	1	0	0	0	0	0	0	0	1	9923	214	8	3		3	MTERFD3	12	107372223	Silent	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	54331572	107372223	26479672	81	706											
EP400	57634	hgsc.bcm.edu	37	12	132505838	132505838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr12:132505838delC	ENST00000333577.4	+	24	4879	c.4770delC	c.(4768-4770)ctcfs	p.L1590fs	EP400_ENST00000389562.2_Frame_Shift_Del_p.L1553fs|EP400_ENST00000332482.4_Frame_Shift_Del_p.L1517fs|EP400_ENST00000389561.2_Frame_Shift_Del_p.L1554fs|EP400_ENST00000330386.6_Intron			Q96L91	EP400_HUMAN	E1A binding protein p400	1590					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCTGGTGCTCCCCTCGCAGG	0.682																																																0													5	4	4					12																	132505838		1830	3662	5492	SO:0001589	frameshift_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4770delC	chr12.hg19:g.132505838delC	ENSP00000333602:p.Leu1590fs		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Del	DEL	ENST00000333577.4	hg19																																																																																					0.682	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		-	132505838	C	-	132505838	7	5	9	1	0	1	0	1	0	0	0	0	5151	842	30	0	4745	0	EP400	12	132505838	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JD-01A-11D-A42J-10	25133615	132505838	1346057	82	707											
CDADC1	81602	hgsc.bcm.edu	37	13	49852539	49852539	+	Silent	SNP	T	T	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr13:49852539T>A	ENST00000251108.6	+	7	1217	c.1104T>A	c.(1102-1104)gcT>gcA	p.A368A	CDADC1_ENST00000444959.1_Silent_p.A170A	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	368							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GTTACAATGCTTTTCCTGTTG	0.408																																																0													411	350	370					13																	49852539		2203	4300	6503	SO:0001819	synonymous_variant	81602			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1104T>A	chr13.hg19:g.49852539T>A			Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Silent	SNP	ENST00000251108.6	hg19	CCDS9415.1																																																																																				0.408	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		A	49852539	T	A	49852539	2	1	9	1	0	0	0	0	0	0	0	1	3055	1596	56	5		5	CDADC1	13	49852539	Silent	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10		49852539	65317339	83	708											
MYH6	4624	hgsc.bcm.edu	37	14	23862152	23862152	+	Missense_Mutation	SNP	C	C	T	rs375169402		TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr14:23862152C>T	ENST00000356287.3	-	23	3249	c.3220G>A	c.(3220-3222)Gat>Aat	p.D1074N	MYH6_ENST00000405093.3_Missense_Mutation_p.D1074N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1074					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGCAGTTTATCATTTTCCAGG	0.542																																																0								C	ASN/ASP	0,4406		0,0,2203	131	116	121		3220	4.8	1	14		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH6	NM_002471.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1074/1940	23862152	1,13005	2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3220G>A	chr14.hg19:g.23862152C>T	ENSP00000348634:p.Asp1074Asn		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	hg19	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	35	5.538945	0.96474	0.0	1.16E-4	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.77750	-1.12;-1.12	4.82	4.82	0.62117	Myosin tail (1);	.	.	.	.	D	0.87398	0.6167	M	0.82323	2.585	0.80722	D	1	D	0.58620	0.983	P	0.60682	0.878	D	0.86950	0.2085	9	0.34782	T	0.22	.	18.2902	0.90127	0.0:1.0:0.0:0.0	.	1074	P13533	MYH6_HUMAN	N	1074	ENSP00000386041:D1074N;ENSP00000348634:D1074N	ENSP00000348634:D1074N	D	-	1	0	MYH6	22931992	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.591000	0.82666	2.391000	0.81399	0.557000	0.71058	GAT		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			T	23862152	C	T	23862152	3	4	9	1	0	0	0	0	1	0	0	0	10040	826	29	2	2663	2	MYH6	14	23862152	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10		23862152	83487388	84	709											
SIPA1L1	26037	hgsc.bcm.edu	37	14	72200389	72200389	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr14:72200389T>C	ENST00000555818.1	+	19	5279	c.4931T>C	c.(4930-4932)tTc>tCc	p.F1644S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.F1623S|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.F1098S|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.F1623S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1644					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCAGGAGAGTTCTCAGCCTCG	0.562																																																0													86	87	87					14																	72200389		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4931T>C	chr14.hg19:g.72200389T>C	ENSP00000450832:p.Phe1644Ser		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241374	0.58995	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.09	5.09	0.68999	.	0.048982	0.85682	D	0.000000	T	0.50548	0.1622	L	0.55990	1.75	0.58432	D	0.999995	D;D;D;D;D	0.71674	0.998;0.982;0.995;0.981;0.994	P;P;D;P;D	0.75020	0.898;0.677;0.962;0.642;0.985	T	0.52434	-0.8576	10	0.66056	D	0.02	-24.1525	15.1848	0.72993	0.0:0.0:0.0:1.0	.	1098;1644;1098;1623;1644	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	S	1623;1644;1623;1098	ENSP00000370630:F1623S;ENSP00000450832:F1644S;ENSP00000351352:F1623S;ENSP00000440682:F1098S	ENSP00000351352:F1644S	F	+	2	0	SIPA1L1	71270142	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	7.655000	0.83696	2.044000	0.60594	0.459000	0.35465	TTC		0.562	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		C	72200389	T	C	72200389	3	2	9	1	0	0	0	0	1	0	0	0	14335	1783	62	3	5001	3	SIPA1L1	14	72200389	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	48338237	72200389	35149151	85	710											
COQ6	51004	hgsc.bcm.edu	37	14	74422588	74422588	+	Silent	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr14:74422588T>C	ENST00000334571.2	+	4	478	c.438T>C	c.(436-438)gaT>gaC	p.D146D	COQ6_ENST00000394026.4_Silent_p.D121D|COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000554920.1_Silent_p.D146D|COQ6_ENST00000238709.4_Silent_p.D71D	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	146					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TGGAGAATGATGTCATCATGC	0.473																																																0													178	167	171					14																	74422588		2203	4300	6503	SO:0001819	synonymous_variant	51004			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"coenzyme Q6 homolog (yeast)", "coenzyme Q6 homolog, monooxygenase (yeast)", "coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.438T>C	chr14.hg19:g.74422588T>C			B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Silent	SNP	ENST00000334571.2	hg19	CCDS9823.1																																																																																				0.473	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			C	74422588	T	C	74422588	2	2	9	1	0	0	0	0	0	0	0	1	3751	1461	51	3		3	COQ6	14	74422588	Silent	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	2222199	74422588	32926952	86	711											
FBLN5	10516	hgsc.bcm.edu	37	14	92336630	92336630	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr14:92336630delT	ENST00000342058.4	-	11	1878	c.1285delA	c.(1285-1287)atcfs	p.I429fs	TC2N_ENST00000555302.1_5'Flank|TC2N_ENST00000435962.2_5'Flank|FBLN5_ENST00000267620.10_Frame_Shift_Del_p.I470fs|FBLN5_ENST00000556154.1_Frame_Shift_Del_p.I434fs|FBLN5_ENST00000556961.1_5'UTR	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	429					cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CTGAAGTTGATGACAGTGTTG	0.582																																																0													113	115	115					14																	92336630		2203	4300	6503	SO:0001589	frameshift_variant	10516			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.1285delA	chr14.hg19:g.92336630delT	ENSP00000345008:p.Ile429fs		O75966|Q6IAL4|Q6UWA3	Frame_Shift_Del	DEL	ENST00000342058.4	hg19	CCDS9898.1																																																																																				0.582	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			-	92336630	T	-	92336630	7	5	9	1	0	1	0	1	0	0	0	0	5702	1464	51	0	65	0	FBLN5	14	92336630	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JD-01A-11D-A42J-10	17914042	92336630	15012910	87	712											
CASC5	57082	hgsc.bcm.edu	37	15	40915982	40915983	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr15:40915982_40915983insT	ENST00000346991.5	+	11	3988_3989	c.3598_3599insT	c.(3598-3600)attfs	p.I1200fs	CASC5_ENST00000399668.2_Frame_Shift_Ins_p.I1174fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1200	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TACTGTTTTCATTGACTGTCAA	0.381																																																0																																										SO:0001589	frameshift_variant	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3600dupT	chr15.hg19:g.40915984_40915984dupT	ENSP00000335463:p.Ile1200fs		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Frame_Shift_Ins	INS	ENST00000346991.5	hg19	CCDS42023.1																																																																																				0.381	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		T	40915983	-	T	40915982	7	5	9	1	0	1	1	0	0	0	0	0	2665	217	8	0	3636	0	CASC5	15	40915982	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JD-01A-11D-A42J-10		40915982	61615410	88	713											
INO80	54617	hgsc.bcm.edu	37	15	41313309	41313309	+	Silent	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr15:41313309T>C	ENST00000361937.3	-	26	3487	c.3063A>G	c.(3061-3063)ccA>ccG	p.P1021P	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Silent_p.P1021P			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1021	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AAGAATCCAATGGCACTGCGG	0.473																																																0													72	66	68					15																	41313309		2203	4300	6503	SO:0001819	synonymous_variant	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3063A>G	chr15.hg19:g.41313309T>C			A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	hg19	CCDS10071.1																																																																																				0.473	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		C	41313309	T	C	41313309	2	2	9	1	0	0	0	0	0	0	0	1	7748	1451	51	3		3	INO80	15	41313309	Silent	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	397327	41313309	61218083	89	714											
GANC	2595	hgsc.bcm.edu	37	15	42640335	42640335	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr15:42640335C>A	ENST00000318010.8	+	21	2579	c.2339C>A	c.(2338-2340)cCa>cAa	p.P780Q	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_5'UTR	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	780					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AGTGTGATACCAATAAAGACA	0.413																																																0													89	85	86					15																	42640335		2203	4299	6502	SO:0001583	missense	2595			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2339C>A	chr15.hg19:g.42640335C>A	ENSP00000326227:p.Pro780Gln		Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	hg19	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428560	0.83667	.	.	ENSG00000214013	ENST00000318010	D	0.91945	-2.94	6.02	6.02	0.97574	.	0.105339	0.64402	D	0.000002	D	0.96818	0.8961	M	0.87097	2.86	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.96665	0.9492	10	0.87932	D	0	-7.3534	20.547	0.99278	0.0:1.0:0.0:0.0	.	780	Q8TET4	GANC_HUMAN	Q	780	ENSP00000326227:P780Q	ENSP00000447925:P12Q	P	+	2	0	GANC	40427627	0.685000	0.27652	0.792000	0.32020	0.547000	0.35210	2.956000	0.49129	2.850000	0.98022	0.650000	0.86243	CCA		0.413	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		A	42640335	C	A	42640335	3	1	9	1	0	0	0	0	1	0	0	0	6236	594	21	4	2421	4	GANC	15	42640335	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	1327026	42640335	59891057	90	715											
SLC28A1	9154	hgsc.bcm.edu	37	15	85438656	85438656	+	Intron	SNP	A	A	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr15:85438656A>G	ENST00000286749.3	+	5	551				SLC28A1_ENST00000338602.2_Missense_Mutation_p.Q170R|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000394573.1_Intron|SLC28A1_ENST00000537703.1_Intron|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Intron			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1						nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TACCTCCCtcagatcacctgg	0.562																																																0													66	54	58					15																	85438656		2203	4299	6502	SO:0001627	intron_variant	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.461+302A>G	chr15.hg19:g.85438656A>G			A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	hg19	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255659	0.22965	.	.	ENSG00000156222	ENST00000338602	T	0.12672	2.66	3.41	2.29	0.28610	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.09310	N	0.999999	B	0.12013	0.005	B	0.10450	0.005	T	0.27331	-1.0077	8	0.72032	D	0.01	.	5.4062	0.16323	0.8714:0.0:0.1286:0.0	.	170	O00337-2	.	R	170	ENSP00000341629:Q170R	ENSP00000341629:Q170R	Q	+	2	0	SLC28A1	83239660	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	0.098000	0.15189	0.691000	0.31592	0.460000	0.39030	CAG		0.562	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			G	85438656	A	G	85438656	1	3	9	0	1	0	0	0	0	0	0	0	14537	188	7	3		3	SLC28A1	15	85438656	Intron	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	42798321	85438656	17092736	91	716											
TMEM8A	58986	hgsc.bcm.edu	37	16	426371	426371	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr16:426371G>A	ENST00000431232.2	-	6	1149	c.989C>T	c.(988-990)tCc>tTc	p.S330F	TMEM8A_ENST00000250930.3_Missense_Mutation_p.S137F|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	330					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGGGCTCGGGGACAGCAGACC	0.642																																																0													42	40	41					16																	426371		2202	4298	6500	SO:0001583	missense	58986			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.989C>T	chr16.hg19:g.426371G>A	ENSP00000401338:p.Ser330Phe		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	hg19	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827992	0.50845	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.33216	1.83;1.42	4.71	3.76	0.43208	.	1.026870	0.07737	N	0.946183	T	0.37100	0.0991	L	0.47716	1.5	0.09310	N	1	D	0.57899	0.981	P	0.50231	0.635	T	0.17077	-1.0381	10	0.56958	D	0.05	.	8.027	0.30442	0.2011:0.0:0.7989:0.0	.	330	Q9HCN3	TMM8A_HUMAN	F	330;137	ENSP00000401338:S330F;ENSP00000250930:S137F	ENSP00000250930:S137F	S	-	2	0	TMEM8A	366372	0.001000	0.12720	0.005000	0.12908	0.002000	0.02628	0.149000	0.16243	1.202000	0.43218	0.655000	0.94253	TCC		0.642	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		A	426371	G	A	426371	3	1	9	1	0	0	0	0	1	0	0	0	16219	1174	41	2	1358	2	TMEM8A	16	426371	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10		426371	89928382	92	717											
RHOT2	89941	hgsc.bcm.edu	37	16	720472	720472	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr16:720472T>C	ENST00000315082.4	+	8	569	c.455T>C	c.(454-456)cTg>cCg	p.L152P	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	152					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCCAAGAACCTGAGGAACATC	0.612																																																0													102	103	103					16																	720472		2200	4300	6500	SO:0001583	missense	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.455T>C	chr16.hg19:g.720472T>C	ENSP00000321971:p.Leu152Pro		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	hg19	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708096	0.30322	.	.	ENSG00000140983	ENST00000315082	T	0.69561	-0.41	5.11	4.0	0.46444	.	0.141279	0.48767	D	0.000179	T	0.77745	0.4176	M	0.68728	2.09	0.80722	D	1	P;D	0.89917	0.503;1.0	B;D	0.87578	0.384;0.998	T	0.76547	-0.2919	10	0.51188	T	0.08	-1.6952	10.2105	0.43138	0.149:0.0:0.0:0.851	.	25;152	Q8IXI1-2;Q8IXI1	.;MIRO2_HUMAN	P	152	ENSP00000321971:L152P	ENSP00000321971:L152P	L	+	2	0	RHOT2	660473	1.000000	0.71417	0.586000	0.28679	0.001000	0.01503	5.906000	0.69900	0.760000	0.33108	-0.496000	0.04628	CTG		0.612	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		C	720472	T	C	720472	3	2	9	1	0	0	0	0	1	0	0	0	13350	1580	55	3	485	3	RHOT2	16	720472	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10	294101	720472	89634281	93	718											
DNAH3	55567	hgsc.bcm.edu	37	16	21147803	21147803	+	Missense_Mutation	SNP	C	C	T	rs200178510		TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr16:21147803C>T	ENST00000261383.3	-	6	727	c.728G>A	c.(727-729)cGc>cAc	p.R243H	DNAH3_ENST00000415178.1_Missense_Mutation_p.R243H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	243	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATGTCTTTGCGAATTCCATT	0.473																																																0													179	167	171					16																	21147803		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.728G>A	chr16.hg19:g.21147803C>T	ENSP00000261383:p.Arg243His		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383171	0.42207	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22945	1.93;2.08	5.53	-3.06	0.05379	.	1.226080	0.05829	N	0.617229	T	0.19208	0.0461	L	0.53249	1.67	0.09310	N	1	B;P	0.34662	0.002;0.462	B;B	0.23018	0.0;0.043	T	0.24012	-1.0172	10	0.48119	T	0.1	.	6.1464	0.20289	0.0:0.3114:0.2689:0.4197	.	243;214	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	H	243;243;214	ENSP00000261383:R243H;ENSP00000394245:R243H	ENSP00000261383:R243H	R	-	2	0	DNAH3	21055304	0.000000	0.05858	0.101000	0.21167	0.871000	0.50021	-0.672000	0.05244	-0.547000	0.06207	0.655000	0.94253	CGC		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21147803	C	T	21147803	3	4	9	1	0	0	0	0	1	0	0	0	4605	768	27	1	11849	1	DNAH3	16	21147803	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	20427331	21147803	69206950	94	719											
E2F4	1874	hgsc.bcm.edu	37	16	67226969	67226969	+	Silent	SNP	G	G	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr16:67226969G>A	ENST00000379378.3	+	3	362	c.303G>A	c.(301-303)aaG>aaA	p.K101K	E2F4_ENST00000564718.1_3'UTR|EXOC3L1_ENST00000562887.1_5'Flank|EXOC3L1_ENST00000314586.6_5'Flank	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	101	Dimerization. {ECO:0000255}.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TTGAGCTCAAGGCAGAGATCG	0.592																																																0													38	32	34					16																	67226969		2190	4288	6478	SO:0001819	synonymous_variant	1874			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.303G>A	chr16.hg19:g.67226969G>A			A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	ENST00000379378.3	hg19	CCDS32464.1																																																																																				0.592	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		A	67226969	G	A	67226969	2	1	9	1	0	0	0	0	0	0	0	1	4871	991	35	2		2	E2F4	16	67226969	Silent	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	46079166	67226969	23127784	95	720											
ZFHX3	463	hgsc.bcm.edu	37	16	72845510	72845510	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr16:72845510A>G	ENST00000268489.5	-	7	4502	c.3830T>C	c.(3829-3831)gTg>gCg	p.V1277A	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.V363A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1277					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTCAGGTGCCACGCTGTGGAG	0.587																																																0													65	58	60					16																	72845510		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3830T>C	chr16.hg19:g.72845510A>G	ENSP00000268489:p.Val1277Ala		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809308	0.70797	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.78707	-1.2;-1.19	5.4	5.4	0.78164	.	0.000000	0.45126	D	0.000397	D	0.85344	0.5675	L	0.53617	1.68	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.86875	0.2038	10	0.87932	D	0	.	15.3888	0.74726	1.0:0.0:0.0:0.0	.	1277	Q15911	ZFHX3_HUMAN	A	1277;363	ENSP00000268489:V1277A;ENSP00000438926:V363A	ENSP00000268489:V1277A	V	-	2	0	ZFHX3	71403011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.164000	0.68074	0.533000	0.62120	GTG		0.587	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		G	72845510	A	G	72845510	3	3	9	1	0	0	0	0	1	0	0	0	17639	159	6	3	7297	3	ZFHX3	16	72845510	Missense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	5618541	72845510	17509243	96	721											
DEF8	54849	hgsc.bcm.edu	37	16	90021581	90021581	+	Silent	SNP	C	C	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr16:90021581C>A	ENST00000268676.7	+	4	401	c.312C>A	c.(310-312)gcC>gcA	p.A104A	DEF8_ENST00000563594.1_Silent_p.A43A|DEF8_ENST00000418391.2_Silent_p.A43A|DEF8_ENST00000567874.1_De_novo_Start_InFrame|DEF8_ENST00000570182.1_Silent_p.A43A|DEF8_ENST00000569453.1_Silent_p.A43A|DEF8_ENST00000563795.1_Silent_p.A43A	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	104					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CTCCAGAGGCCCTGCCTGAGC	0.642																																																0													67	67	67					16																	90021581		2198	4300	6498	SO:0001819	synonymous_variant	54849			AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.312C>A	chr16.hg19:g.90021581C>A			B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	hg19	CCDS10989.1																																																																																				0.642	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		A	90021581	C	A	90021581	2	1	9	1	0	0	0	0	0	0	0	1	4389	610	22	4		4	DEF8	16	90021581	Silent	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	17176071	90021581	333172	97	722											
WDR81	124997	hgsc.bcm.edu	37	17	1634093	1634093	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr17:1634093delC	ENST00000409644.1	+	3	3820	c.3820delC	c.(3820-3822)ccgfs	p.P1274fs	WDR81_ENST00000545662.1_5'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Frame_Shift_Del_p.P71fs|WDR81_ENST00000419248.1_Frame_Shift_Del_p.P47fs|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000309182.5_Frame_Shift_Del_p.P223fs	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1274					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGAGAGCCCACCGCTGAGCGC	0.677																																																0													32	35	34					17																	1634093		2202	4296	6498	SO:0001589	frameshift_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3820delC	chr17.hg19:g.1634093delC	ENSP00000386609:p.Pro1274fs		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Del	DEL	ENST00000409644.1	hg19	CCDS54062.1																																																																																				0.677	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		-	1634093	C	-	1634093	7	5	9	1	0	1	0	1	0	0	0	0	17335	507	18	0	3892	0	WDR81	17	1634093	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JD-01A-11D-A42J-10		1634093	79561117	98	723											
SPAG7	9552	hgsc.bcm.edu	37	17	4863151	4863151	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr17:4863151C>A	ENST00000206020.3	-	6	545	c.478G>T	c.(478-480)Gcc>Tcc	p.A160S	SPAG7_ENST00000575142.1_Missense_Mutation_p.A149S|SPAG7_ENST00000573366.1_Missense_Mutation_p.A109S	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	160						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TAGTCGCTGGCAGGGCTCACC	0.632																																																0													72	77	75					17																	4863151		2152	4249	6401	SO:0001583	missense	9552			AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.478G>T	chr17.hg19:g.4863151C>A	ENSP00000206020:p.Ala160Ser		Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	hg19	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	C	9.879	1.201019	0.22121	.	.	ENSG00000091640	ENST00000206020	.	.	.	5.1	2.0	0.26442	.	0.275517	0.41194	D	0.000922	T	0.14657	0.0354	N	0.04508	-0.205	0.24039	N	0.996084	B	0.10296	0.003	B	0.06405	0.002	T	0.26608	-1.0098	9	0.16420	T	0.52	0.0294	8.9143	0.35572	0.0:0.7497:0.0:0.2503	.	160	O75391	SPAG7_HUMAN	S	160	.	ENSP00000206020:A160S	A	-	1	0	SPAG7	4803874	0.998000	0.40836	0.178000	0.23040	0.860000	0.49131	1.596000	0.36718	0.315000	0.23110	0.561000	0.74099	GCC		0.632	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		A	4863151	C	A	4863151	3	1	9	1	0	0	0	0	1	0	0	0	14989	710	25	4	213	4	SPAG7	17	4863151	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	3229058	4863151	76332059	99	724											
CLDN7	1366	hgsc.bcm.edu	37	17	7164034	7164034	+	Silent	SNP	A	A	G			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr17:7164034A>G	ENST00000360325.7	-	3	834	c.400T>C	c.(400-402)Ttg>Ctg	p.L134L	CLDN7_ENST00000397317.4_Silent_p.L134L|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000538261.3_Intron|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000571881.2_Missense_Mutation_p.L125P	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	134					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						CAAGCTACCAAGGCGGCAAGA	0.537																																																0													82	91	88					17																	7164034		2203	4300	6503	SO:0001819	synonymous_variant	1366			AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"Claudins"	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.400T>C	chr17.hg19:g.7164034A>G			B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Silent	SNP	ENST00000360325.7	hg19	CCDS11096.1																																																																																				0.537	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		G	7164034	A	G	7164034	2	3	9	1	0	0	0	0	0	0	0	1	3492	69	3	3		3	CLDN7	17	7164034	Silent	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10	2300883	7164034	74031176	100	725											
MPRIP	23164	hgsc.bcm.edu	37	17	17049353	17049353	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr17:17049353G>A	ENST00000341712.4	+	10	1153	c.1153G>A	c.(1153-1155)Gac>Aac	p.D385N	MPRIP_ENST00000395804.3_Missense_Mutation_p.D385N|MPRIP_ENST00000395811.5_Missense_Mutation_p.D385N|MPRIP_ENST00000444976.1_Missense_Mutation_p.D347N			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	385						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.D385N(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTCTCAGCCCGACCTGCTGAA	0.547																																																1	Substitution - Missense(1)	endometrium(1)											76	66	69					17																	17049353		2203	4300	6503	SO:0001583	missense	23164			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1153G>A	chr17.hg19:g.17049353G>A	ENSP00000342379:p.Asp385Asn		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	hg19	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	36	5.698781	0.96802	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	T;T;T;T	0.26957	1.7;1.98;1.98;1.98	5.97	5.97	0.96955	Pleckstrin homology-type (1);	.	.	.	.	T	0.44623	0.1302	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.28713	-1.0035	9	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	385;385	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	N	347;385;385;385	ENSP00000400189:D347N;ENSP00000379156:D385N;ENSP00000379149:D385N;ENSP00000342379:D385N	ENSP00000342379:D385N	D	+	1	0	MPRIP	16990078	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.184000	0.94893	2.837000	0.97791	0.655000	0.94253	GAC		0.547	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		A	17049353	G	A	17049353	3	1	9	1	0	0	0	0	1	0	0	0	9745	1058	37	1	1191	1	MPRIP	17	17049353	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	9885319	17049353	64145857	101	726											
TSHZ1	10194	hgsc.bcm.edu	37	18	72999615	72999615	+	Silent	SNP	C	C	A			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr18:72999615C>A	ENST00000580243.1	+	2	2601	c.2253C>A	c.(2251-2253)tcC>tcA	p.S751S	TSHZ1_ENST00000322038.5_Silent_p.S706S			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	751					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTTTGCAGTCCATCATGAACA	0.572																																																0													83	78	79					18																	72999615		2203	4300	6503	SO:0001819	synonymous_variant	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2253C>A	chr18.hg19:g.72999615C>A			O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	hg19																																																																																					0.572	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		A	72999615	C	A	72999615	2	1	9	1	0	0	0	0	0	0	0	1	16628	581	21	4		4	TSHZ1	18	72999615	Silent	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10		72999615	5077633	102	727											
PODNL1	90379	hgsc.bcm.edu	37	19	14063934	14063934	+	Intron	SNP	G	G	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr19:14063934G>T	ENST00000254337.6	+	1	153				PODNL1_ENST00000538517.2_Silent_p.T5T|PODNL1_ENST00000588317.1_5'UTR|PODNL1_ENST00000538371.2_Silent_p.T5T	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15						protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CCAGTACCTGGGTGGGCCTCC	0.612																																																0													49	47	47					19																	14063934		692	1591	2283	SO:0001627	intron_variant	79883			BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.132+478G>T	chr19.hg19:g.14063934G>T			B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	hg19	CCDS32926.1																																																																																				0.612	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		T	14063934	G	T	14063934	1	4	9	0	1	0	0	0	0	0	0	0	12181	1219	43	4		4	PODNL1	19	14063934	Intron	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10		14063934	45065049	103	728											
LPHN1	22859	hgsc.bcm.edu	37	19	14281546	14281546	+	Silent	SNP	G	G	A	rs149098258		TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr19:14281546G>A	ENST00000340736.6	-	4	639	c.342C>T	c.(340-342)ccC>ccT	p.P114P	LPHN1_ENST00000361434.3_Silent_p.P114P|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	114	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCCAGGACAGGGGTCAGGAA	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19572	0.0		0.0	False		,,,				2504	0.0															0								G	,	1,4405	2.1+/-5.4	0,1,2202	89	61	71		342,342	3.3	1	19	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LPHN1	NM_001008701.2,NM_014921.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	114/1475,114/1470	14281546	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.342C>T	chr19.hg19:g.14281546G>A			Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	hg19	CCDS32928.1																																																																																				0.567	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		A	14281546	G	A	14281546	2	1	9	1	0	0	0	0	0	0	0	1	8917	987	35	2		2	LPHN1	19	14281546	Silent	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	217612	14281546	44847437	104	729											
ZBTB32	27033	hgsc.bcm.edu	37	19	36205878	36205878	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr19:36205878C>T	ENST00000392197.2	+	3	668	c.350C>T	c.(349-351)gCt>gTt	p.A117V	ZBTB32_ENST00000262630.3_Missense_Mutation_p.A117V			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	117					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGACAGGGCTAAAAAGCCA	0.597																																																0													46	49	48					19																	36205878		2203	4300	6503	SO:0001583	missense	27033			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16763	protein-coding gene	gene with protein product	"repressor of GATA"	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.350C>T	chr19.hg19:g.36205878C>T	ENSP00000376035:p.Ala117Val		Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	hg19	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256716	0.22965	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.09723	2.95;2.95	5.43	1.98	0.26296	BTB/POZ-like (1);	1.171210	0.06374	N	0.714002	T	0.08891	0.0220	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.37957	-0.9683	10	0.52906	T	0.07	1.7382	6.4857	0.22087	0.317:0.5964:0.0:0.0867	.	117	Q9Y2Y4	ZBT32_HUMAN	V	117	ENSP00000262630:A117V;ENSP00000376035:A117V	ENSP00000262630:A117V	A	+	2	0	ZBTB32	40897718	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	0.161000	0.16481	0.292000	0.22492	0.655000	0.94253	GCT		0.597	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		T	36205878	C	T	36205878	3	4	9	1	0	0	0	0	1	0	0	0	17540	797	28	2	352	2	ZBTB32	19	36205878	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	21924332	36205878	22923105	105	730											
SIPA1L3	23094	hgsc.bcm.edu	37	19	38684203	38684203	+	Silent	SNP	G	G	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr19:38684203G>C	ENST00000222345.6	+	18	5132	c.4623G>C	c.(4621-4623)cgG>cgC	p.R1541R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1541					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTGCAGCGGACGCTGTCGG	0.687																																																0													12	14	13					19																	38684203		2191	4288	6479	SO:0001819	synonymous_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4623G>C	chr19.hg19:g.38684203G>C			Q2TV87	Silent	SNP	ENST00000222345.6	hg19	CCDS33007.1																																																																																				0.687	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		C	38684203	G	C	38684203	2	2	9	1	0	0	0	0	0	0	0	1	14337	1161	41	4		4	SIPA1L3	19	38684203	Silent	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	2478325	38684203	20444780	106	731											
ATP1A3	478	hgsc.bcm.edu	37	19	42492528	42492528	+	Splice_Site	SNP	G	G	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr19:42492528G>C	ENST00000302102.5	-	3	245	c.95C>G	c.(94-96)aCa>aGa	p.T32R	ATP1A3_ENST00000543770.1_Splice_Site_p.T43R|ATP1A3_ENST00000545399.1_Splice_Site_p.T45R|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000602133.1_Splice_Site_p.T2R	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	32					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTTGTGCTCTGTCTGAGGAAC	0.607																																																0													176	172	173					19																	42492528		2203	4300	6503	SO:0001630	splice_region_variant	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.94-1C>G	chr19.hg19:g.42492528G>C			B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	hg19	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787354	0.70337	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.62	4.62	0.57501	ATPase, P-type cation-transporter, N-terminal (1);	0.328937	0.27811	N	0.017754	T	0.77525	0.4143	N	0.08118	0	0.80722	D	1	B;B;B;B	0.32893	0.187;0.249;0.389;0.161	B;B;B;B	0.35114	0.091;0.091;0.196;0.042	T	0.80743	-0.1246	10	0.87932	D	0	.	15.4001	0.74834	0.0:0.0:1.0:0.0	.	45;43;32;32	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	R	32;32;45;2;43;45	ENSP00000302397:T32R;ENSP00000411503:T32R;ENSP00000444688:T45R;ENSP00000437577:T43R	ENSP00000302397:T32R	T	-	2	0	ATP1A3	47184368	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.752000	0.68728	2.328000	0.79073	0.485000	0.47835	ACA		0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296	Missense_Mutation	C	42492528	G	C	42492528	5	2	9	1	0	0	0	0	0	0	1	0	1130	1391	48	4	3030	4	ATP1A3	19	42492528	Splice_Site	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	3808325	42492528	16636455	107	732											
RTN2	6253	hgsc.bcm.edu	37	19	45991773	45991773	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr19:45991773C>T	ENST00000245923.4	-	9	1688	c.1453G>A	c.(1453-1455)Gtg>Atg	p.V485M	RTN2_ENST00000590526.1_Missense_Mutation_p.V211M|PPM1N_ENST00000401705.1_5'Flank|RTN2_ENST00000430715.2_Missense_Mutation_p.V145M|RTN2_ENST00000344680.4_Missense_Mutation_p.V412M	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	485	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		AGACCAATCACTCCTGTGGGT	0.577																																																0													97	93	94					19																	45991773		2203	4300	6503	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1453G>A	chr19.hg19:g.45991773C>T	ENSP00000245923:p.Val485Met		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	hg19	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665718	0.67700	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.53857	0.6;0.6;0.6	5.45	5.45	0.79879	.	0.061059	0.64402	D	0.000004	T	0.72614	0.3482	M	0.77103	2.36	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.982;0.998	T	0.74575	-0.3620	10	0.54805	T	0.06	-8.7254	14.8394	0.70212	0.0:1.0:0.0:0.0	.	412;485	O75298-2;O75298	.;RTN2_HUMAN	M	412;485;145	ENSP00000345127:V412M;ENSP00000245923:V485M;ENSP00000398178:V145M	ENSP00000245923:V485M	V	-	1	0	RTN2	50683613	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	3.022000	0.49659	2.580000	0.87095	0.555000	0.69702	GTG		0.577	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		T	45991773	C	T	45991773	3	4	9	1	0	0	0	0	1	0	0	0	13732	565	20	2	196	2	RTN2	19	45991773	Missense_Mutation	SNP	C	TCGA-2Z-A9JD-01A-11D-A42J-10	3499245	45991773	13137210	108	733											
GRIN2D	2906	hgsc.bcm.edu	37	19	48945411	48945411	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr19:48945411G>C	ENST00000263269.3	+	12	2533	c.2445G>C	c.(2443-2445)gaG>gaC	p.E815D		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	815					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCTAGATGAGATCGAGATGC	0.562																																																0													105	103	104					19																	48945411		2203	4300	6503	SO:0001583	missense	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2445G>C	chr19.hg19:g.48945411G>C	ENSP00000263269:p.Glu815Asp			Missense_Mutation	SNP	ENST00000263269.3	hg19	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633555	0.29068	.	.	ENSG00000105464	ENST00000263269	T	0.32023	1.47	4.5	0.644	0.17776	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	N	0.25825	0.765	0.40143	D	0.976859	B	0.16166	0.016	B	0.15052	0.012	T	0.06552	-1.0820	10	0.33940	T	0.23	.	6.9597	0.24590	0.1793:0.1404:0.6803:0.0	.	815	O15399	NMDE4_HUMAN	D	815	ENSP00000263269:E815D	ENSP00000263269:E815D	E	+	3	2	GRIN2D	53637223	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	0.723000	0.25939	0.146000	0.19002	0.456000	0.33151	GAG		0.562	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			C	48945411	G	C	48945411	3	2	9	1	0	0	0	0	1	0	0	0	6784	933	33	4	2487	4	GRIN2D	19	48945411	Missense_Mutation	SNP	G	TCGA-2Z-A9JD-01A-11D-A42J-10	2953638	48945411	10183572	109	734											
RIPK4	54101	hgsc.bcm.edu	37	21	43164161	43164161	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chr21:43164161T>C	ENST00000352483.2	-	8	1284	c.1220A>G	c.(1219-1221)gAg>gGg	p.E407G	RIPK4_ENST00000542057.1_Missense_Mutation_p.E296G|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.E359G|RIPK4_ENST00000544709.1_Missense_Mutation_p.E296G			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	407					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGCTTGGACTCAGAGGAGCT	0.617																																																0													38	40	40					21																	43164161		2203	4300	6503	SO:0001583	missense	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1220A>G	chr21.hg19:g.43164161T>C	ENSP00000330161:p.Glu407Gly		Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	hg19		.	.	.	.	.	.	.	.	.	.	T	19.83	3.899939	0.72754	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.78707	-0.96;-1.03;-1.2;-1.2	5.12	3.96	0.45880	.	0.000000	0.64402	D	0.000007	T	0.75019	0.3793	N	0.08118	0	0.46061	D	0.998849	D	0.89917	1.0	D	0.80764	0.994	T	0.78056	-0.2353	10	0.66056	D	0.02	-32.5994	11.4902	0.50377	0.0:0.0:0.1505:0.8495	.	359	P57078-2	.	G	359;407;296;296;98	ENSP00000332454:E359G;ENSP00000330161:E407G;ENSP00000441754:E296G;ENSP00000442901:E296G	ENSP00000330975:E98G	E	-	2	0	RIPK4	42037230	1.000000	0.71417	0.455000	0.27031	0.995000	0.86356	3.720000	0.54933	0.777000	0.33496	0.533000	0.62120	GAG		0.617	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		C	43164161	T	C	43164161	3	2	9	1	0	0	0	0	1	0	0	0	13389	1551	54	3	1286	3	RIPK4	21	43164161	Missense_Mutation	SNP	T	TCGA-2Z-A9JD-01A-11D-A42J-10		43164161	4965734	110	735											
SLITRK4	139065	hgsc.bcm.edu	37	X	142718226	142718226	+	Nonsense_Mutation	SNP	A	A	C			TCGA-2Z-A9JD-01A-11D-A42J-10	TCGA-2Z-A9JD-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d0c6a1f3-cb7d-4abc-b7be-b60b373335bb	edf87796-76e3-4a71-8bb0-cb01677c6e77	g.chrX:142718226A>C	ENST00000381779.4	-	2	924	c.699T>G	c.(697-699)taT>taG	p.Y233*	SLITRK4_ENST00000356928.1_Nonsense_Mutation_p.Y233*|SLITRK4_ENST00000338017.4_Nonsense_Mutation_p.Y233*	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	233	LRRCT 1.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAAATGTTATATGGCATGT	0.423																																																0													82	76	78					X																	142718226		2203	4300	6503	SO:0001587	stop_gained	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.699T>G	chrX.hg19:g.142718226A>C	ENSP00000371198:p.Tyr233*		Q5JXG3|Q8TCM8|Q96DL3	Nonsense_Mutation	SNP	ENST00000381779.4	hg19	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	A	36	5.612265	0.96637	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	.	.	.	5.73	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-9.3393	9.7669	0.40565	0.918:0.0:0.082:0.0	.	.	.	.	X	233	.	ENSP00000336627:Y233X	Y	-	3	2	SLITRK4	142545892	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.982000	0.49337	0.803000	0.34113	-0.323000	0.08544	TAT		0.423	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		C	142718226	A	C	142718226	4	2	9	1	0	0	0	0	0	1	0	0	14751	456	16	5	1818	5	SLITRK4	23	142718226	Nonsense_Mutation	SNP	A	TCGA-2Z-A9JD-01A-11D-A42J-10		142718226	12552334	111	736											
CAMTA1	23261	hgsc.bcm.edu	37	1	7811258	7811258	+	Splice_Site	SNP	G	G	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:7811258G>T	ENST00000303635.7	+	20	4896		c.e20-1		CAMTA1_ENST00000439411.2_Splice_Site|CAMTA1_ENST00000476864.1_Splice_Site	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCCCCTGCAGTACGCACTTT	0.483			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													191	204	200					1																	7811258		2203	4300	6503	SO:0001630	splice_region_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4690-1G>T	chr1.hg19:g.7811258G>T			A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Splice_Site	SNP	ENST00000303635.7	hg19	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759921	0.89932	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000495233;ENST00000490905;ENST00000476864	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAMTA1	7733845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.646000	0.89796	0.655000	0.94253	.		0.483	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	Intron	T	7811258	G	T	7811258	5	4	10	1	0	0	0	0	0	0	1	0	2615	1043	36	4	4767	4	CAMTA1	1	7811258	Splice_Site	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10		7811258	241439363	1	737											
MFN2	9927	hgsc.bcm.edu	37	1	12067259	12067260	+	Frame_Shift_Del	DEL	GC	GC	-	rs531748892		TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:12067259_12067260delGC	ENST00000235329.5	+	17	2344_2345	c.2022_2023delGC	c.(2020-2025)cagcttfs	p.QL674fs	MFN2_ENST00000444836.1_Frame_Shift_Del_p.QL674fs	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	674					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGAAGCTGCAGCTTGTCATCAG	0.604																																																0																																										SO:0001589	frameshift_variant	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.2022_2023delGC	chr1.hg19:g.12067259_12067260delGC	ENSP00000235329:p.Gln674fs		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Frame_Shift_Del	DEL	ENST00000235329.5	hg19	CCDS30587.1																																																																																				0.604	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		-	12067260	GC	-	12067259	7	5	10	1	0	1	0	1	0	0	0	0	9526	962	34	0	2080	0	MFN2	1	12067259	Frame_Shift_Del	DEL	GC	TCGA-2Z-A9JE-01A-11D-A42J-10	4256001	12067259	237183362	2	738	6	2									
MFN2	9927	hgsc.bcm.edu	37	1	12067262	12067262	+	Silent	SNP	T	T	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:12067262T>A	ENST00000235329.5	+	17	2347	c.2025T>A	c.(2023-2025)ctT>ctA	p.L675L	MFN2_ENST00000444836.1_Silent_p.L675L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	675					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGCTGCAGCTTGTCATCAGCT	0.607																																																0													54	48	50					1																	12067262		2203	4300	6503	SO:0001819	synonymous_variant	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.2025T>A	chr1.hg19:g.12067262T>A			A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	hg19	CCDS30587.1																																																																																				0.607	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		A	12067262	T	A	12067262	2	1	10	1	0	0	0	0	0	0	0	1	9526	1799	63	5		5	MFN2	1	12067262	Silent	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10	3	12067262	237183359	3	739	6	2									
TNFRSF1B	7133	hgsc.bcm.edu	37	1	12254074	12254074	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:12254074A>C	ENST00000376259.3	+	7	939	c.850A>C	c.(850-852)Atg>Ctg	p.M284L	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	284					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	CTGTGTCATCATGACCCAGGT	0.483																																																0													204	191	195					1																	12254074		2203	4300	6503	SO:0001583	missense	7133			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.850A>C	chr1.hg19:g.12254074A>C	ENSP00000365435:p.Met284Leu		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	hg19	CCDS145.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.854484	0.00558	.	.	ENSG00000028137	ENST00000376259	D	0.84800	-1.9	4.12	-8.25	0.01025	.	3.614700	0.00710	N	0.000824	T	0.72518	0.3470	L	0.36672	1.1	0.20403	N	0.999903	B	0.02656	0.0	B	0.01281	0.0	T	0.62863	-0.6764	10	0.10636	T	0.68	-4.0556	5.32	0.15876	0.1423:0.3801:0.3863:0.0912	.	284	P20333	TNR1B_HUMAN	L	284	ENSP00000365435:M284L	ENSP00000365435:M284L	M	+	1	0	TNFRSF1B	12176661	0.001000	0.12720	0.085000	0.20634	0.704000	0.40688	-2.970000	0.00668	-2.877000	0.00320	-0.290000	0.09829	ATG		0.483	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		C	12254074	A	C	12254074	3	2	10	1	0	0	0	0	1	0	0	0	16299	217	8	5	876	5	TNFRSF1B	1	12254074	Missense_Mutation	SNP	A	TCGA-2Z-A9JE-01A-11D-A42J-10	186812	12254074	236996547	4	740											
UBR4	23352	hgsc.bcm.edu	37	1	19430633	19430633	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:19430633C>A	ENST00000375254.3	-	87	12873	c.12846G>T	c.(12844-12846)aaG>aaT	p.K4282N	UBR4_ENST00000543981.1_5'Flank|UBR4_ENST00000375217.2_Missense_Mutation_p.K4275N|UBR4_ENST00000375267.2_Missense_Mutation_p.K4282N|UBR4_ENST00000375224.1_5'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.K4258N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4282					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATCGATCAGCTTGGTCCTCT	0.537																																																0													149	121	131					1																	19430633		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.12846G>T	chr1.hg19:g.19430633C>A	ENSP00000364403:p.Lys4282Asn		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668267	0.67814	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.38	2.51	0.30379	.	0.098404	0.64402	D	0.000002	T	0.66177	0.2763	L	0.41415	1.275	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.62685	-0.6802	10	0.48119	T	0.1	.	8.5074	0.33195	0.0:0.7562:0.0:0.2438	.	4282	Q5T4S7	UBR4_HUMAN	N	4282;4282;4275;4258	ENSP00000364403:K4282N;ENSP00000364416:K4282N;ENSP00000364365:K4275N;ENSP00000364374:K4258N	ENSP00000364365:K4275N	K	-	3	2	UBR4	19303220	0.996000	0.38824	1.000000	0.80357	0.880000	0.50808	0.488000	0.22371	0.405000	0.25532	0.655000	0.94253	AAG		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19430633	C	A	19430633	3	1	10	1	0	0	0	0	1	0	0	0	16909	796	28	4	2785	4	UBR4	1	19430633	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	7176559	19430633	229819988	5	741											
PUM1	9698	hgsc.bcm.edu	37	1	31452956	31452956	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:31452956G>T	ENST00000257075.5	-	9	1400	c.1307C>A	c.(1306-1308)cCa>cAa	p.P436Q	PUM1_ENST00000373741.4_Missense_Mutation_p.P472Q|PUM1_ENST00000440538.2_Missense_Mutation_p.P437Q|PUM1_ENST00000426105.2_Missense_Mutation_p.P436Q|PUM1_ENST00000373742.2_Missense_Mutation_p.P377Q|PUM1_ENST00000373747.3_Missense_Mutation_p.P437Q|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000423018.2_Missense_Mutation_p.P340Q|PUM1_ENST00000424085.2_Missense_Mutation_p.P194Q	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	436	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GTCCGTCCCTGGGGGAGCAGC	0.498																																																0													60	55	57					1																	31452956		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1307C>A	chr1.hg19:g.31452956G>T	ENSP00000257075:p.Pro436Gln		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	hg19	CCDS338.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426313	0.96131	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T;T	0.18810	2.26;2.19;2.47;2.48;2.42;2.46;2.4;2.22	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.996;0.999;0.993;0.996;0.993;0.996	D;D;D;D;P;P;P;P	0.83275	0.927;0.991;0.927;0.996;0.878;0.878;0.878;0.878	T	0.28808	-1.0032	10	0.48119	T	0.1	-6.3805	19.8328	0.96642	0.0:0.0:1.0:0.0	.	377;340;472;437;436;436;437;436	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.;.	Q	194;436;437;174;436;437;472;340;377;436	ENSP00000400141:P194Q;ENSP00000257075:P436Q;ENSP00000362852:P437Q;ENSP00000391723:P436Q;ENSP00000401777:P437Q;ENSP00000362846:P472Q;ENSP00000399440:P340Q;ENSP00000362847:P377Q	ENSP00000257075:P436Q	P	-	2	0	PUM1	31225543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	2.758000	0.94735	0.591000	0.81541	CCA		0.498	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			T	31452956	G	T	31452956	3	4	10	1	0	0	0	0	1	0	0	0	12831	1348	47	4	2315	4	PUM1	1	31452956	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	12022323	31452956	217797665	6	742											
NASP	4678	hgsc.bcm.edu	37	1	46073205	46073206	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:46073205_46073206insA	ENST00000350030.3	+	6	709_710	c.622_623insA	c.(622-624)gaafs	p.E208fs	NASP_ENST00000537798.1_Frame_Shift_Ins_p.E144fs|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Frame_Shift_Ins_p.E210fs|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	208	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TTGGTTAACTGAAACCTCTGAA	0.465																																																0																																										SO:0001589	frameshift_variant	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.625dupA	chr1.hg19:g.46073208_46073208dupA	ENSP00000255120:p.Glu208fs		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Frame_Shift_Ins	INS	ENST00000350030.3	hg19	CCDS524.1																																																																																				0.465	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		A	46073206	-	A	46073205	7	5	10	1	0	1	1	0	0	0	0	0	10174	1291	45	0	721	0	NASP	1	46073205	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JE-01A-11D-A42J-10	14620249	46073205	203177416	7	743											
TTC4	7268	hgsc.bcm.edu	37	1	55197174	55197174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:55197174delC	ENST00000371281.3	+	7	784	c.697delC	c.(697-699)ctcfs	p.L233fs	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	233										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GAATATCAGGCTCTCAGAAGC	0.468																																																0													56	51	53					1																	55197174		2203	4300	6503	SO:0001589	frameshift_variant	7268				CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.697delC	chr1.hg19:g.55197174delC	ENSP00000360329:p.Leu233fs		Q53Y95|Q5TA96|Q9H3I2	Frame_Shift_Del	DEL	ENST00000371281.3	hg19	CCDS596.1																																																																																				0.468	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		-	55197174	C	-	55197174	7	5	10	1	0	1	0	1	0	0	0	0	16715	797	28	0	723	0	TTC4	1	55197174	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JE-01A-11D-A42J-10	9123969	55197174	194053447	8	744											
C8A	731	hgsc.bcm.edu	37	1	57383327	57383327	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:57383327C>T	ENST00000361249.3	+	11	1789	c.1693C>T	c.(1693-1695)Cca>Tca	p.P565S		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	565	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTGTGACAATCCAGCACCTCA	0.582																																																0													68	66	67					1																	57383327		2203	4300	6503	SO:0001583	missense	731			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1693C>T	chr1.hg19:g.57383327C>T	ENSP00000354458:p.Pro565Ser		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	hg19	CCDS606.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917645	0.52546	.	.	ENSG00000157131	ENST00000361249	T	0.54479	0.57	4.82	4.82	0.62117	.	0.099528	0.64402	D	0.000001	T	0.78941	0.4363	M	0.92649	3.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.84585	0.0663	10	0.87932	D	0	-13.7116	16.2551	0.82510	0.0:1.0:0.0:0.0	.	565	P07357	CO8A_HUMAN	S	565	ENSP00000354458:P565S	ENSP00000354458:P565S	P	+	1	0	C8A	57155915	1.000000	0.71417	0.397000	0.26308	0.211000	0.24417	5.614000	0.67695	2.487000	0.83934	0.563000	0.77884	CCA		0.582	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		T	57383327	C	T	57383327	3	4	10	1	0	0	0	0	1	0	0	0	2418	855	30	2	1735	2	C8A	1	57383327	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	2186153	57383327	191867294	9	745											
HAPLN2	60484	hgsc.bcm.edu	37	1	156594250	156594250	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:156594250C>G	ENST00000255039.1	+	5	954	c.547C>G	c.(547-549)Ctc>Gtc	p.L183V	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	183	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTACTCCCAGCTCTACCAGGG	0.672																																																0													23	23	23					1																	156594250		2202	4300	6502	SO:0001583	missense	60484			AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"Immunoglobulin superfamily / V-set domain containing"	17410	protein-coding gene	gene with protein product	"brain link protein 1"					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.547C>G	chr1.hg19:g.156594250C>G	ENSP00000255039:p.Leu183Val		Q5T3J0	Missense_Mutation	SNP	ENST00000255039.1	hg19	CCDS1148.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488481	0.44249	.	.	ENSG00000132702	ENST00000255039;ENST00000544775;ENST00000456112	T;T	0.12879	2.64;2.64	4.15	3.23	0.37069	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.89414	3.03	0.52501	D	0.99995	D	0.89917	1.0	D	0.91635	0.999	T	0.27262	-1.0079	10	0.87932	D	0	-16.7817	10.9343	0.47237	0.0:0.9065:0.0:0.0935	.	183	Q9GZV7	HPLN2_HUMAN	V	183;156;183	ENSP00000255039:L183V;ENSP00000388835:L183V	ENSP00000255039:L183V	L	+	1	0	HAPLN2	154860874	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	5.552000	0.67281	1.100000	0.41517	-0.136000	0.14681	CTC		0.672	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		G	156594250	C	G	156594250	3	3	10	1	0	0	0	0	1	0	0	0	6957	797	28	4	557	4	HAPLN2	1	156594250	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	99210923	156594250	92656371	10	746											
ATP1A2	477	hgsc.bcm.edu	37	1	160104412	160104412	+	Splice_Site	SNP	T	T	G			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:160104412T>G	ENST00000361216.3	+	14	2053		c.e14+2		ATP1A2_ENST00000392233.3_Splice_Site	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide						adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAACCCCAGGTGAGGCCTCTG	0.557																																																0													97	81	87					1																	160104412		2203	4300	6503	SO:0001630	splice_region_variant	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1964+2T>G	chr1.hg19:g.160104412T>G			D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Splice_Site	SNP	ENST00000361216.3	hg19	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037149	0.75617	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000447527;ENST00000435866	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.994	0.64386	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP1A2	158371036	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.802000	0.85969	1.997000	0.58415	0.459000	0.35465	.		0.557	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	Intron	G	160104412	T	G	160104412	5	3	10	1	0	0	0	0	0	0	1	0	1129	1710	59	5	2020	5	ATP1A2	1	160104412	Splice_Site	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10	3510162	160104412	89146209	11	747											
NEK2	4751	hgsc.bcm.edu	37	1	211846908	211846908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:211846908C>A	ENST00000366999.4	-	3	610	c.472G>T	c.(472-474)Gga>Tga	p.G158*	NEK2_ENST00000540251.1_Nonsense_Mutation_p.G115*|NEK2_ENST00000366998.3_Nonsense_Mutation_p.G158*|NEK2_ENST00000462283.1_5'Flank|RP11-122M14.1_ENST00000415202.1_RNA	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		CCAAAGTCTCCAAGCTTGACG	0.423																																																0													103	101	101					1																	211846908		2203	4300	6503	SO:0001587	stop_gained	4751			U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"HsPK 21", "protein phosphatase 1, regulatory subunit 111"	604043	"NIMA (never in mitosis gene a)-related kinase 2"			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.472G>T	chr1.hg19:g.211846908C>A	ENSP00000355966:p.Gly158*		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Nonsense_Mutation	SNP	ENST00000366999.4	hg19	CCDS1500.1	.	.	.	.	.	.	.	.	.	.	C	39	7.512866	0.98329	.	.	ENSG00000117650	ENST00000366999;ENST00000540251;ENST00000366998	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1585	0.93522	0.0:1.0:0.0:0.0	.	.	.	.	X	158;115;158	.	ENSP00000355965:G158X	G	-	1	0	NEK2	209913531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.438000	0.80431	2.591000	0.87537	0.563000	0.77884	GGA		0.423	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		A	211846908	C	A	211846908	4	1	10	1	0	0	0	0	0	1	0	0	10326	603	21	4	889	4	NEK2	1	211846908	Nonsense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	51742496	211846908	37403713	12	748											
TMEM63A	9725	hgsc.bcm.edu	37	1	226040425	226040425	+	Silent	SNP	G	G	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr1:226040425G>A	ENST00000366835.3	-	20	2113	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	615					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AAGACACACAGCATCCATGCA	0.552																																																0													198	123	148					1																	226040425		2203	4300	6503	SO:0001819	synonymous_variant	9725				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1843C>T	chr1.hg19:g.226040425G>A			Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	hg19	CCDS31042.1																																																																																				0.552	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		A	226040425	G	A	226040425	2	1	10	1	0	0	0	0	0	0	0	1	16195	962	34	2		2	TMEM63A	1	226040425	Silent	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	14193517	226040425	23210196	13	749											
ROCK2	9475	hgsc.bcm.edu	37	2	11333932	11333932	+	Silent	SNP	A	A	G			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:11333932A>G	ENST00000315872.6	-	30	4108	c.3660T>C	c.(3658-3660)gaT>gaC	p.D1220D	ROCK2_ENST00000401753.1_Silent_p.D977D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1220	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTCTTTAGCATCTGCTCTAT	0.313																																																0													96	87	90					2																	11333932		1821	4078	5899	SO:0001819	synonymous_variant	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3660T>C	chr2.hg19:g.11333932A>G			Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	hg19	CCDS42654.1																																																																																				0.313	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			G	11333932	A	G	11333932	2	3	10	1	0	0	0	0	0	0	0	1	13524	214	8	3		3	ROCK2	2	11333932	Silent	SNP	A	TCGA-2Z-A9JE-01A-11D-A42J-10		11333932	231865441	14	750											
KCNS3	3790	hgsc.bcm.edu	37	2	18112835	18112835	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:18112835delT	ENST00000403915.1	+	3	1011	c.560delT	c.(559-561)atcfs	p.I187fs	KCNS3_ENST00000304101.4_Frame_Shift_Del_p.I187fs|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	187					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTAAGCTTATCGCTATCTCC	0.517																																																0													71	71	71					2																	18112835		2203	4300	6503	SO:0001589	frameshift_variant	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.560delT	chr2.hg19:g.18112835delT	ENSP00000385968:p.Ile187fs		D6W520|O43651|Q4ZFY1|Q96B56	Frame_Shift_Del	DEL	ENST00000403915.1	hg19	CCDS1692.1																																																																																				0.517	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		-	18112835	T	-	18112835	7	5	10	1	0	1	0	1	0	0	0	0	8092	1435	50	0	562	0	KCNS3	2	18112835	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JE-01A-11D-A42J-10	6778903	18112835	225086538	15	751											
EPAS1	2034	hgsc.bcm.edu	37	2	46583908	46583908	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:46583908G>A	ENST00000263734.3	+	4	925	c.415G>A	c.(415-417)Gac>Aac	p.D139N		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	139	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCATCCCTGCGACCATGAGGA	0.438																																																0													150	143	145					2																	46583908		2203	4300	6503	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.415G>A	chr2.hg19:g.46583908G>A	ENSP00000263734:p.Asp139Asn		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	hg19	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583690	0.96578	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.28069	1.63;1.63	5.31	5.31	0.75309	PAS (3);PAS fold (1);	0.045322	0.85682	D	0.000000	T	0.73385	0.3580	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84327	0.0519	10	0.87932	D	0	.	19.1734	0.93590	0.0:0.0:1.0:0.0	.	139	Q99814	EPAS1_HUMAN	N	139	ENSP00000406137:D139N;ENSP00000263734:D139N	ENSP00000263734:D139N	D	+	1	0	EPAS1	46437412	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	9.618000	0.98365	2.767000	0.95098	0.561000	0.74099	GAC		0.438	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		A	46583908	G	A	46583908	3	1	10	1	0	0	0	0	1	0	0	0	5152	1058	37	1	429	1	EPAS1	2	46583908	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	28471073	46583908	196615465	16	752											
ADD2	119	hgsc.bcm.edu	37	2	70931525	70931525	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:70931525T>C	ENST00000264436.4	-	4	694	c.250A>G	c.(250-252)Atc>Gtc	p.I84V	ADD2_ENST00000355733.3_Missense_Mutation_p.I84V|ADD2_ENST00000413157.2_Missense_Mutation_p.I84V|ADD2_ENST00000407644.2_Missense_Mutation_p.I84V|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000430656.1_Missense_Mutation_p.I100V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	84					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGGCCCAGATGTTGGAGGAG	0.597																																																0													157	135	142					2																	70931525		2203	4300	6503	SO:0001583	missense	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.250A>G	chr2.hg19:g.70931525T>C	ENSP00000264436:p.Ile84Val		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	hg19	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479766	0.44044	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.31247	3.48;3.48;1.5;1.5;1.5;1.5;1.5;1.5	5.14	3.95	0.45737	.	0.140051	0.49305	N	0.000141	T	0.22627	0.0546	L	0.29908	0.895	0.38061	D	0.93606	B;B;B;B;B;B	0.23185	0.0;0.002;0.006;0.007;0.011;0.081	B;B;B;B;B;B	0.24006	0.001;0.009;0.003;0.005;0.007;0.05	T	0.09228	-1.0684	10	0.72032	D	0.01	-26.4503	9.2523	0.37562	0.0:0.0863:0.0:0.9137	.	100;84;84;84;84;84	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	V	84;84;84;84;84;84;84;84;100;84;84	ENSP00000264436:I84V;ENSP00000384677:I84V;ENSP00000347972:I84V;ENSP00000430243:I84V;ENSP00000388072:I84V;ENSP00000398112:I100V;ENSP00000412357:I84V;ENSP00000412681:I84V	ENSP00000264436:I84V	I	-	1	0	ADD2	70785033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.225000	0.42954	0.940000	0.37473	0.533000	0.62120	ATC		0.597	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		C	70931525	T	C	70931525	3	2	10	1	0	0	0	0	1	0	0	0	305	1464	51	3	2163	3	ADD2	2	70931525	Missense_Mutation	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10	24347617	70931525	172267848	17	753											
ANKRD23	200539	hgsc.bcm.edu	37	2	97505808	97505808	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:97505808C>A	ENST00000318357.4	-	7	690	c.649G>T	c.(649-651)Gca>Tca	p.A217S	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Missense_Mutation_p.A217S|ANKRD23_ENST00000331001.2_Missense_Mutation_p.A175S	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	217					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GTGCGCACTGCCACGTGCAGG	0.632																																																0													20	18	19					2																	97505808		2181	4275	6456	SO:0001583	missense	200539				CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.649G>T	chr2.hg19:g.97505808C>A	ENSP00000321679:p.Ala217Ser		Q711K7|Q8NAJ7	Missense_Mutation	SNP	ENST00000318357.4	hg19	CCDS2027.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152672	0.78001	.	.	ENSG00000163126	ENST00000318357;ENST00000418232;ENST00000331001	T;T;T	0.80824	-1.42;-1.42;-1.42	4.73	4.73	0.59995	Ankyrin repeat-containing domain (4);	0.193284	0.25447	N	0.030603	D	0.89480	0.6727	M	0.85373	2.75	0.80722	D	1	P;D	0.69078	0.692;0.997	P;D	0.69142	0.534;0.962	D	0.90821	0.4709	10	0.87932	D	0	-13.8287	13.0871	0.59146	0.0:1.0:0.0:0.0	.	175;217	Q86SG2-2;Q86SG2	.;ANR23_HUMAN	S	217;217;175	ENSP00000321679:A217S;ENSP00000398987:A217S;ENSP00000333108:A175S	ENSP00000321679:A217S	A	-	1	0	ANKRD23	96869535	1.000000	0.71417	0.994000	0.49952	0.600000	0.36913	4.133000	0.57983	2.450000	0.82876	0.650000	0.86243	GCA		0.632	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		A	97505808	C	A	97505808	3	1	10	1	0	0	0	0	1	0	0	0	652	739	26	4	280	4	ANKRD23	2	97505808	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	26574283	97505808	145693565	18	754											
MYO7B	4648	hgsc.bcm.edu	37	2	128341726	128341726	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:128341726A>G	ENST00000409816.2	+	12	1405	c.1373A>G	c.(1372-1374)aAc>aGc	p.N458S	MYO7B_ENST00000389524.4_Missense_Mutation_p.N458S|MYO7B_ENST00000428314.1_Missense_Mutation_p.N458S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	458	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)		AACTTCGCCAACGAGCACCTG	0.602																																																0													62	64	64					2																	128341726		2203	4300	6503	SO:0001583	missense	4648				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.1373A>G	chr2.hg19:g.128341726A>G	ENSP00000386461:p.Asn458Ser		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	hg19	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531422	0.85706	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.91351	-2.83;-2.83;-2.83	4.7	4.7	0.59300	Myosin head, motor domain (3);	0.110919	0.64402	D	0.000018	D	0.96327	0.8802	H	0.94385	3.53	0.58432	D	0.999999	D	0.76494	0.999	D	0.68483	0.958	D	0.97450	1.0027	10	0.87932	D	0	.	14.6119	0.68522	1.0:0.0:0.0:0.0	.	458	Q6PIF6	MYO7B_HUMAN	S	458	ENSP00000374175:N458S;ENSP00000415090:N458S;ENSP00000386461:N458S	ENSP00000374175:N458S	N	+	2	0	MYO7B	128058196	1.000000	0.71417	0.869000	0.34112	0.923000	0.55619	9.021000	0.93673	2.104000	0.64026	0.533000	0.62120	AAC		0.602	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		G	128341726	A	G	128341726	3	3	10	1	0	0	0	0	1	0	0	0	10085	43	2	3	1419	3	MYO7B	2	128341726	Missense_Mutation	SNP	A	TCGA-2Z-A9JE-01A-11D-A42J-10	30835918	128341726	114857647	19	755											
GPR155	151556	hgsc.bcm.edu	37	2	175346273	175346273	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:175346273G>A	ENST00000392552.2	-	2	650	c.412C>T	c.(412-414)Cct>Tct	p.P138S	GPR155_ENST00000295500.4_Missense_Mutation_p.P138S|GPR155_ENST00000392551.2_Missense_Mutation_p.P138S	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	138					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GCAAAAATAGGGAATAGTCCA	0.294																																																0													141	152	148					2																	175346273		2203	4299	6502	SO:0001583	missense	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.412C>T	chr2.hg19:g.175346273G>A	ENSP00000376335:p.Pro138Ser		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	hg19	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436500	0.43224	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.39229	1.09;1.09;1.09	6.03	6.03	0.97812	.	0.047770	0.85682	D	0.000000	T	0.30198	0.0757	N	0.04994	-0.135	0.58432	D	0.999998	P	0.35684	0.515	B	0.38225	0.268	T	0.13361	-1.0512	10	0.36615	T	0.2	-16.4904	20.5568	0.99304	0.0:0.0:1.0:0.0	.	138	Q7Z3F1	GP155_HUMAN	S	138	ENSP00000376335:P138S;ENSP00000376334:P138S;ENSP00000295500:P138S	ENSP00000295500:P138S	P	-	1	0	GPR155	175054519	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.945000	0.63568	2.861000	0.98227	0.655000	0.94253	CCT		0.294	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		A	175346273	G	A	175346273	3	1	10	1	0	0	0	0	1	0	0	0	6662	1232	43	2	2260	2	GPR155	2	175346273	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	47004547	175346273	67853100	20	756											
USP37	57695	hgsc.bcm.edu	37	2	219360546	219360546	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:219360546G>T	ENST00000258399.3	-	14	1821	c.1409C>A	c.(1408-1410)gCa>gAa	p.A470E	USP37_ENST00000454775.1_Missense_Mutation_p.A470E|USP37_ENST00000415516.1_Missense_Mutation_p.A398E|USP37_ENST00000418019.1_Missense_Mutation_p.A470E	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	470	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GCAAGTGTATGCTCTGGTAGC	0.358																																																0													106	106	106					2																	219360546		2203	4300	6503	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1409C>A	chr2.hg19:g.219360546G>T	ENSP00000258399:p.Ala470Glu		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	hg19	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846484	0.51164	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.49	3.12	0.35913	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.291794	0.36101	N	0.002789	T	0.15089	0.0364	N	0.10733	0.035	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.001	T	0.06075	-1.0847	10	0.33141	T	0.24	-3.8005	9.7959	0.40735	0.8596:0.0:0.1404:0.0	.	398;470	Q86T82-2;Q86T82	.;UBP37_HUMAN	E	470;470;398;470	ENSP00000258399:A470E;ENSP00000393662:A470E;ENSP00000400902:A398E;ENSP00000396585:A470E	ENSP00000258399:A470E	A	-	2	0	USP37	219068790	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	5.379000	0.66196	0.383000	0.24910	-0.383000	0.06682	GCA		0.358	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		T	219360546	G	T	219360546	3	4	10	1	0	0	0	0	1	0	0	0	17073	1319	46	4	1582	4	USP37	2	219360546	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	44014273	219360546	23838827	21	757											
COL4A3	1285	hgsc.bcm.edu	37	2	228174025	228174025	+	Silent	SNP	A	A	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:228174025A>T	ENST00000396578.3	+	50	4908	c.4746A>T	c.(4744-4746)tcA>tcT	p.S1582S	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1582	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGATTTTCATTCATCATGG	0.473																																																0													55	55	55					2																	228174025		1943	4165	6108	SO:0001819	synonymous_variant	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4746A>T	chr2.hg19:g.228174025A>T			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	hg19	CCDS42829.1																																																																																				0.473	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		T	228174025	A	T	228174025	2	4	10	1	0	0	0	0	0	0	0	1	3693	204	8	5		5	COL4A3	2	228174025	Silent	SNP	A	TCGA-2Z-A9JE-01A-11D-A42J-10	8813479	228174025	15025348	22	758											
ARMC9	80210	hgsc.bcm.edu	37	2	232141353	232141353	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:232141353C>A	ENST00000349938.4	+	15	1533	c.1339C>A	c.(1339-1341)Ccg>Acg	p.P447T	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	447						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCCCAGGCGCCCGCTGCAGAC	0.507																																																0													112	108	110					2																	232141353		2203	4300	6503	SO:0001583	missense	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1339C>A	chr2.hg19:g.232141353C>A	ENSP00000258417:p.Pro447Thr		Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	hg19	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	2.253	-0.371083	0.05034	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339;ENST00000446447	T;T;T	0.52057	0.68;0.68;0.68	5.42	3.56	0.40772	Armadillo-like helical (1);Armadillo-type fold (1);	0.410909	0.25958	N	0.027202	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.20472	-1.0274	10	0.06236	T	0.91	-13.5235	8.8812	0.35376	0.1329:0.4254:0.4417:0.0	.	447	Q7Z3E5	ARMC9_HUMAN	T	447;447;164;89	ENSP00000258417:P447T;ENSP00000392086:P164T;ENSP00000411778:P89T	ENSP00000258417:P447T	P	+	1	0	ARMC9	231849597	0.114000	0.22134	0.675000	0.29917	0.451000	0.32288	1.453000	0.35167	1.281000	0.44480	0.563000	0.77884	CCG		0.507	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		A	232141353	C	A	232141353	3	1	10	1	0	0	0	0	1	0	0	0	958	623	22	4	1393	4	ARMC9	2	232141353	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	3967328	232141353	11058020	23	759											
UGT1A6	54578	hgsc.bcm.edu	37	2	234602011	234602011	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:234602011C>A	ENST00000305139.6	+	1	500	c.361C>A	c.(361-363)Ctg>Atg	p.L121M	UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000373450.4_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000406651.1_5'Flank|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	121					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TGTTATTGGCCTGTACTTCAT	0.458																																																0													88	74	79					2																	234602011		2203	4300	6503	SO:0001583	missense	54578			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.361C>A	chr2.hg19:g.234602011C>A	ENSP00000303174:p.Leu121Met		A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	hg19	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.155968	0.01686	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.60920	0.15;0.15	5.31	-3.87	0.04218	.	.	.	.	.	T	0.21347	0.0514	N	0.02368	-0.58	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.15484	0.01;0.013	T	0.25537	-1.0129	9	0.09084	T	0.74	.	3.2857	0.06931	0.3165:0.3751:0.0657:0.2427	.	121;121	B8K289;P19224	.;UD16_HUMAN	M	121	ENSP00000389637:L121M;ENSP00000303174:L121M	ENSP00000303174:L121M	L	+	1	2	UGT1A6	234266750	0.000000	0.05858	0.007000	0.13788	0.022000	0.10575	-1.635000	0.02018	-0.410000	0.07542	-0.256000	0.11100	CTG		0.458	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		A	234602011	C	A	234602011	3	1	10	1	0	0	0	0	1	0	0	0	16954	680	24	4	363	4	UGT1A6	2	234602011	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	2460658	234602011	8597362	24	760											
ANO7	50636	hgsc.bcm.edu	37	2	242149796	242149796	+	Silent	SNP	T	T	G			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr2:242149796T>G	ENST00000274979.8	+	14	1711	c.1608T>G	c.(1606-1608)ctT>ctG	p.L536L	ANO7_ENST00000402430.3_Silent_p.L535L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	536					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCAACACCCTTCTCGCAGCCT	0.677																																																0													97	77	84					2																	242149796		2203	4300	6503	SO:0001819	synonymous_variant	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1608T>G	chr2.hg19:g.242149796T>G			Q6IWH6	Silent	SNP	ENST00000274979.8	hg19	CCDS33423.1																																																																																				0.677	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		G	242149796	T	G	242149796	2	3	10	1	0	0	0	0	0	0	0	1	702	1770	62	5		5	ANO7	2	242149796	Silent	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10	7547785	242149796	1049577	25	761											
ITPR1	3708	hgsc.bcm.edu	37	3	4821261	4821263	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	ATC	ATC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr3:4821261_4821263delATC	ENST00000443694.2	+	46	6274_6276	c.6274_6276delATC	c.(6274-6276)atcdel	p.I2092del	ITPR1_ENST00000354582.6_In_Frame_Del_p.I2092del|ITPR1_ENST00000302640.8_In_Frame_Del_p.I2092del|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_In_Frame_Del_p.I2059del|ITPR1_ENST00000357086.4_In_Frame_Del_p.I2059del|ITPR1_ENST00000456211.2_In_Frame_Del_p.I2044del			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2107					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCTCCTGGCCATCATGGAAAGCA	0.532																																																0																																										SO:0001651	inframe_deletion	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6274_6276delATC	chr3.hg19:g.4821261_4821263delATC	ENSP00000401671:p.Ile2092del		E7EPX7|E9PDE9|Q14660|Q99897	In_Frame_Del	DEL	ENST00000443694.2	hg19	CCDS54551.1																																																																																				0.532	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		-	4821263	ATC	-	4821261	7	5	10	1	0	1	0	1	0	0	0	0	7922	217	8	0	6505	0	ITPR1	3	4821261	In_Frame_Del	DEL	ATC	TCGA-2Z-A9JE-01A-11D-A42J-10		4821261	193201169	26	762											
XYLB	9942	hgsc.bcm.edu	37	3	38404498	38404498	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr3:38404498G>A	ENST00000207870.3	+	4	371	c.281G>A	c.(280-282)gGg>gAg	p.G94E	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	94					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCCTTGTCCGGGGCGGGCCAG	0.537																																																0													85	85	85					3																	38404498		2203	4300	6503	SO:0001583	missense	9942			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.281G>A	chr3.hg19:g.38404498G>A	ENSP00000207870:p.Gly94Glu		B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	hg19	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266815	0.80469	.	.	ENSG00000093217	ENST00000207870	T	0.45668	0.89	4.74	4.74	0.60224	Carbohydrate kinase, FGGY, N-terminal (1);	0.098371	0.64402	D	0.000001	T	0.72285	0.3441	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79852	-0.1628	10	0.72032	D	0.01	.	16.0139	0.80422	0.0:0.0:1.0:0.0	.	94	O75191	XYLB_HUMAN	E	94	ENSP00000207870:G94E	ENSP00000207870:G94E	G	+	2	0	XYLB	38379502	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.862000	0.87013	2.554000	0.86153	0.455000	0.32223	GGG		0.537	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		A	38404498	G	A	38404498	3	1	10	1	0	0	0	0	1	0	0	0	17467	1232	43	2	295	2	XYLB	3	38404498	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	33583237	38404498	159617932	27	763											
BAP1	8314	hgsc.bcm.edu	37	3	52439781	52439781	+	Splice_Site	SNP	C	C	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr3:52439781C>A	ENST00000460680.1	-	10	1402	c.931G>T	c.(931-933)Gat>Tat	p.D311Y	BAP1_ENST00000296288.5_Splice_Site_p.D293Y	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCCCAGTACCTGTGTGGTTG	0.577			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													43	45	44					3																	52439781		2203	4300	6503	SO:0001630	splice_region_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.931+1G>T	chr3.hg19:g.52439781C>A			B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	hg19	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575175	0.65878	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.57752	0.38;0.39	5.38	5.38	0.77491	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.050678	0.85682	D	0.000000	T	0.48132	0.1483	L	0.54323	1.7	0.58432	D	0.999994	B	0.33379	0.41	B	0.25884	0.064	T	0.43540	-0.9385	9	.	.	.	-1.5677	19.0887	0.93217	0.0:1.0:0.0:0.0	.	311	Q92560	BAP1_HUMAN	Y	311;293	ENSP00000417132:D311Y;ENSP00000296288:D293Y	.	D	-	1	0	BAP1	52414821	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.016000	0.64041	2.674000	0.91012	0.655000	0.94253	GAT		0.577	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		Missense_Mutation	A	52439781	C	A	52439781	5	1	10	1	0	0	0	0	0	0	1	0	1311	695	24	4	1290	4	BAP1	3	52439781	Splice_Site	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	14035283	52439781	145582649	28	764											
KIAA2018	205717	hgsc.bcm.edu	37	3	113392215	113392215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr3:113392215delT	ENST00000478658.1	-	2	73	c.56delA	c.(55-57)aacfs	p.N19fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.N19fs|KIAA2018_ENST00000491165.1_Frame_Shift_Del_p.N19fs			Q68DE3	K2018_HUMAN	KIAA2018	19	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGTCTCCCGGTTTTTCTTTCT	0.259																																																0													56	52	53					3																	113392215		1782	4045	5827	SO:0001589	frameshift_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.56delA	chr3.hg19:g.113392215delT	ENSP00000420721:p.Asn19fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	hg19	CCDS43133.1																																																																																				0.259	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		-	113392215	T	-	113392215	7	5	10	1	0	1	0	1	0	0	0	0	8270	1725	60	0	6697	0	KIAA2018	3	113392215	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JE-01A-11D-A42J-10	60952434	113392215	84630215	29	765											
SPON2	10417	hgsc.bcm.edu	37	4	1165761	1165761	+	Silent	SNP	G	G	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr4:1165761G>T	ENST00000290902.5	-	2	431	c.99C>A	c.(97-99)tcC>tcA	p.S33S	SPON2_ENST00000431380.1_Silent_p.S33S	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	33	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGGAACAGATGGACTCTCCCC	0.682																																																0													29	41	37					4																	1165761		2193	4276	6469	SO:0001819	synonymous_variant	10417			AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.99C>A	chr4.hg19:g.1165761G>T			D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	hg19	CCDS3347.1																																																																																				0.682	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			T	1165761	G	T	1165761	2	4	10	1	0	0	0	0	0	0	0	1	15088	1335	47	4		4	SPON2	4	1165761	Silent	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10		1165761	189988515	30	766											
UNC5C	8633	hgsc.bcm.edu	37	4	96140151	96140151	+	Frame_Shift_Del	DEL	C	C	-	rs61741188	byFrequency	TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr4:96140151delC	ENST00000453304.1	-	9	1962	c.1614delG	c.(1612-1614)tcgfs	p.S538fs	UNC5C_ENST00000506749.1_Frame_Shift_Del_p.S557fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	538	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GACCTCCCAGCGAGTTGAAGC	0.443																																																0													108	86	94					4																	96140151		2203	4300	6503	SO:0001589	frameshift_variant	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1614delG	chr4.hg19:g.96140151delC	ENSP00000406022:p.Ser538fs		Q8IUT0	Frame_Shift_Del	DEL	ENST00000453304.1	hg19	CCDS3643.1																																																																																				0.443	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		-	96140151	C	-	96140151	7	5	10	1	0	1	0	1	0	0	0	0	16998	755	27	0	1213	0	UNC5C	4	96140151	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JE-01A-11D-A42J-10	94974390	96140151	95014125	31	767											
C4orf21	55345	hgsc.bcm.edu	37	4	113539801	113539801	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr4:113539801C>A	ENST00000505019.1	-	6	1522	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V	C4orf21_ENST00000445203.2_Missense_Mutation_p.G435V|C4orf21_ENST00000309071.5_Missense_Mutation_p.G466V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		466						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G466V(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCCAGTGTTCCACATGTATT	0.338																																																2	Substitution - Missense(2)	lung(2)											104	112	109					4																	113539801		2203	4300	6503	SO:0001583	missense	55345																														ENST00000505019.1:c.1397G>T	chr4.hg19:g.113539801C>A	ENSP00000424737:p.Gly466Val		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.56	2.274501	0.40194	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.82619	-1.63;1.87;1.45	4.86	-3.04	0.05412	.	1.350960	0.04855	N	0.443112	T	0.70894	0.3276	L	0.32530	0.975	0.09310	N	1	B;B	0.32893	0.389;0.1	B;B	0.32211	0.142;0.027	T	0.59075	-0.7522	10	0.66056	D	0.02	-0.8765	2.4375	0.04486	0.0987:0.3354:0.1808:0.3851	.	466;466	Q86YA3;G5EA02	CD021_HUMAN;.	V	466;466;435	ENSP00000424737:G466V;ENSP00000309095:G466V;ENSP00000390505:G435V	ENSP00000309095:G466V	G	-	2	0	C4orf21	113759250	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.202000	0.03023	-0.666000	0.05310	-0.262000	0.10625	GGA		0.338	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			A	113539801	C	A	113539801	3	1	10	1	0	0	0	0	1	0	0	0	2256	855	30	4	5009	4	C4orf21	4	113539801	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	17399650	113539801	77614475	32	768											
KIAA0922	23240	hgsc.bcm.edu	37	4	154517528	154517528	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr4:154517528T>C	ENST00000409663.3	+	20	2163	c.2111T>C	c.(2110-2112)aTa>aCa	p.I704T	KIAA0922_ENST00000409959.3_Missense_Mutation_p.I705T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.I621T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	704						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ACCTCACTCATACTAATCCGG	0.423																																																0													140	124	130					4																	154517528		2203	4300	6503	SO:0001583	missense	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2111T>C	chr4.hg19:g.154517528T>C	ENSP00000386574:p.Ile704Thr		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	hg19	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261278	0.80246	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.22336	2.24;1.96;2.24;1.96	5.65	5.65	0.86999	.	0.100685	0.64402	D	0.000003	T	0.48624	0.1510	M	0.79475	2.455	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.85130	0.997;0.987;0.918	T	0.52593	-0.8555	10	0.87932	D	0	-10.8786	14.8705	0.70453	0.0:0.0:0.0:1.0	.	621;705;704	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	T	704;621;705;482	ENSP00000386574:I704T;ENSP00000409663:I621T;ENSP00000386787:I705T;ENSP00000240487:I482T	ENSP00000240487:I482T	I	+	2	0	KIAA0922	154736978	1.000000	0.71417	0.903000	0.35520	0.997000	0.91878	6.265000	0.72534	2.163000	0.67991	0.533000	0.62120	ATA		0.423	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		C	154517528	T	C	154517528	3	2	10	1	0	0	0	0	1	0	0	0	8203	1406	49	3	2192	3	KIAA0922	4	154517528	Missense_Mutation	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10	40977727	154517528	36636748	33	769											
CMBL	134147	hgsc.bcm.edu	37	5	10282333	10282333	+	Missense_Mutation	SNP	A	A	T	rs115129340	byFrequency	TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr5:10282333A>T	ENST00000296658.3	-	5	954	c.534T>A	c.(532-534)aaT>aaA	p.N178K	CMBL_ENST00000510532.1_Intron	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	178						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TCACAACATCATTTTCAGCAA	0.403																																																0													102	104	103					5																	10282333		2203	4300	6503	SO:0001583	missense	134147				CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"carboxymethylenebutenolidase-like (Pseudomonas)"			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.534T>A	chr5.hg19:g.10282333A>T	ENSP00000296658:p.Asn178Lys		D3DTC7|Q8TED6	Missense_Mutation	SNP	ENST00000296658.3	hg19	CCDS3878.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317951	0.40996	.	.	ENSG00000164237	ENST00000296658	T	0.39592	1.07	5.23	-5.94	0.02247	Dienelactone hydrolase (1);	0.494575	0.21750	N	0.069694	T	0.16642	0.0400	N	0.16201	0.385	0.31061	N	0.714115	B	0.06786	0.001	B	0.12156	0.007	T	0.11867	-1.0570	10	0.20519	T	0.43	-25.4727	5.87	0.18799	0.2378:0.0:0.4348:0.3274	.	178	Q96DG6	CMBL_HUMAN	K	178	ENSP00000296658:N178K	ENSP00000296658:N178K	N	-	3	2	CMBL	10335333	0.000000	0.05858	0.528000	0.27938	0.911000	0.54048	-2.751000	0.00792	-1.004000	0.03421	0.533000	0.62120	AAT		0.403	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		T	10282333	A	T	10282333	3	4	10	1	0	0	0	0	1	0	0	0	3578	214	8	5	211	5	CMBL	5	10282333	Missense_Mutation	SNP	A	TCGA-2Z-A9JE-01A-11D-A42J-10		10282333	170632927	34	770											
DDX46	9879	hgsc.bcm.edu	37	5	134118720	134118720	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr5:134118720T>A	ENST00000354283.4	+	9	1266	c.1131T>A	c.(1129-1131)tgT>tgA	p.C377*	DDX46_ENST00000452510.2_Nonsense_Mutation_p.C377*|DDX46_ENST00000509178.1_3'UTR			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	377					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGTCCAGTGTGGAATTTCCA	0.408																																					Colon(13;391 453 4901 21675 24897)											0													181	166	171					5																	134118720		2203	4300	6503	SO:0001587	stop_gained	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1131T>A	chr5.hg19:g.134118720T>A	ENSP00000346236:p.Cys377*		O94894|Q96EI0|Q9Y658	Nonsense_Mutation	SNP	ENST00000354283.4	hg19	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	T	37	6.395914	0.97533	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	.	.	.	5.16	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8672	10.2948	0.43618	0.0:0.0776:0.0:0.9224	.	.	.	.	X	377	.	ENSP00000346236:C377X	C	+	3	2	DDX46	134146619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.230000	0.58632	1.946000	0.56461	0.528000	0.53228	TGT		0.408	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		A	134118720	T	A	134118720	4	1	10	1	0	0	0	0	0	1	0	0	4366	1702	59	5	1165	5	DDX46	5	134118720	Nonsense_Mutation	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10	123836387	134118720	46796540	35	771											
PCDHGA1	56114	hgsc.bcm.edu	37	5	140712543	140712543	+	Silent	SNP	G	G	A	rs560568026		TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr5:140712543G>A	ENST00000517417.1	+	1	2292	c.2292G>A	c.(2290-2292)cgG>cgA	p.R764R	PCDHGA1_ENST00000378105.3_Silent_p.R764R	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	764					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGACTCGCGGAAGAGCCACC	0.577																																																0													105	115	112					5																	140712543		2203	4298	6501	SO:0001819	synonymous_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2292G>A	chr5.hg19:g.140712543G>A			Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	hg19	CCDS54922.1																																																																																				0.577	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		A	140712543	G	A	140712543	2	1	10	1	0	0	0	0	0	0	0	1	11552	1161	41	2		2	PCDHGA1	5	140712543	Silent	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	6593823	140712543	40202717	36	772											
PCDHGB4	8641	hgsc.bcm.edu	37	5	140769788	140769788	+	Silent	SNP	C	C	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr5:140769788C>T	ENST00000519479.1	+	1	2337	c.2337C>T	c.(2335-2337)tgC>tgT	p.C779C	PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	779					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATACTTTGCGGTGATTCAT	0.388																																																0													222	223	223					5																	140769788		1904	4126	6030	SO:0001819	synonymous_variant	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2337C>T	chr5.hg19:g.140769788C>T			O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	hg19	CCDS54928.1																																																																																				0.388	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		T	140769788	C	T	140769788	2	4	10	1	0	0	0	0	0	0	0	1	11567	776	27	1		1	PCDHGB4	5	140769788	Silent	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	57245	140769788	40145472	37	773											
FAT2	2196	hgsc.bcm.edu	37	5	150920245	150920245	+	Silent	SNP	G	G	A	rs111242057		TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr5:150920245G>A	ENST00000261800.5	-	10	8934	c.8922C>T	c.(8920-8922)cgC>cgT	p.R2974R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2974	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTATGCTCGCGGTCCAGGG	0.532																																																0													107	89	95					5																	150920245		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8922C>T	chr5.hg19:g.150920245G>A			O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	hg19	CCDS4317.1																																																																																				0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150920245	G	A	150920245	2	1	10	1	0	0	0	0	0	0	0	1	5692	1074	38	1		1	FAT2	5	150920245	Silent	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	10150457	150920245	29995015	38	774											
DAAM2	23500	hgsc.bcm.edu	37	6	39869623	39869623	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr6:39869623G>T	ENST00000398904.2	+	25	3199	c.3017G>T	c.(3016-3018)cGg>cTg	p.R1006L	RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.R1005L|DAAM2_ENST00000274867.4_Missense_Mutation_p.R1006L			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1006					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGGTGGCAGCGGCAGCGGAAG	0.682																																																0													21	28	26					6																	39869623		2083	4209	6292	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.3017G>T	chr6.hg19:g.39869623G>T	ENSP00000381876:p.Arg1006Leu		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	hg19	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598634	0.87055	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.80123	-1.34;-1.34;-1.34	5.51	5.51	0.81932	Actin-binding FH2/DRF autoregulatory (1);	0.162307	0.43260	D	0.000587	T	0.75057	0.3798	L	0.50333	1.59	0.80722	D	1	P;P	0.51933	0.949;0.915	P;B	0.44447	0.45;0.263	T	0.79624	-0.1726	10	0.72032	D	0.01	.	18.9986	0.92824	0.0:0.0:1.0:0.0	.	1005;1006	G5EA45;Q86T65	.;DAAM2_HUMAN	L	1006;1006;1005	ENSP00000274867:R1006L;ENSP00000381876:R1006L;ENSP00000437808:R1005L	ENSP00000274867:R1006L	R	+	2	0	DAAM2	39977601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.632000	0.67819	2.586000	0.87340	0.561000	0.74099	CGG		0.682	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			T	39869623	G	T	39869623	3	4	10	1	0	0	0	0	1	0	0	0	4218	1116	39	4	3108	4	DAAM2	6	39869623	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10		39869623	131245444	39	775											
SMPDL3A	10924	hgsc.bcm.edu	37	6	123116945	123116945	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr6:123116945T>C	ENST00000368440.4	+	2	413	c.236T>C	c.(235-237)gTt>gCt	p.V79A	SMPDL3A_ENST00000487215.1_3'UTR|SMPDL3A_ENST00000539041.1_Intron	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	79					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TTTGGAGATGTTCTGTGTGAT	0.388																																																0													165	150	155					6																	123116945		2203	4300	6503	SO:0001583	missense	10924			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"acid sphingomyelinase-like phosphodiesterase 3a"	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.236T>C	chr6.hg19:g.123116945T>C	ENSP00000357425:p.Val79Ala		B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	hg19	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560482	0.65538	.	.	ENSG00000172594	ENST00000368440	D	0.94966	-3.57	5.27	5.27	0.74061	Metallophosphoesterase domain (1);	0.160331	0.56097	D	0.000031	D	0.86585	0.5968	L	0.29908	0.895	0.80722	D	1	B	0.31655	0.334	B	0.28385	0.089	D	0.87329	0.2323	10	0.51188	T	0.08	-12.4189	15.4763	0.75481	0.0:0.0:0.0:1.0	.	79	Q92484	ASM3A_HUMAN	A	79	ENSP00000357425:V79A	ENSP00000357425:V79A	V	+	2	0	SMPDL3A	123158644	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.651000	0.83577	2.112000	0.64535	0.528000	0.53228	GTT		0.388	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		C	123116945	T	C	123116945	3	2	10	1	0	0	0	0	1	0	0	0	14814	1725	60	3	242	3	SMPDL3A	6	123116945	Missense_Mutation	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10	83247322	123116945	47998122	40	776											
REPS1	85021	hgsc.bcm.edu	37	6	139262521	139262521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr6:139262521delT	ENST00000450536.2	-	8	1660	c.1086delA	c.(1084-1086)aaafs	p.K362fs	REPS1_ENST00000415951.2_Frame_Shift_Del_p.K362fs|REPS1_ENST00000258062.5_Frame_Shift_Del_p.K362fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K362fs|REPS1_ENST00000409812.2_Frame_Shift_Del_p.K362fs			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	362	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTTCAGGAAGTTTTTCTGGTA	0.403																																																0													175	177	176					6																	139262521		2203	4300	6503	SO:0001589	frameshift_variant	85021				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1086delA	chr6.hg19:g.139262521delT	ENSP00000392065:p.Lys362fs		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Frame_Shift_Del	DEL	ENST00000450536.2	hg19																																																																																					0.403	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			-	139262521	T	-	139262521	7	5	10	1	0	1	0	1	0	0	0	0	13234	1722	60	0	1356	0	REPS1	6	139262521	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JE-01A-11D-A42J-10	16145576	139262521	31852546	41	777											
USP42	84132	hgsc.bcm.edu	37	7	6180604	6180605	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr7:6180604_6180605insTA	ENST00000306177.5	+	7	942_943	c.784_785insTA	c.(784-786)ttgfs	p.L262fs		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	262	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGATATAACATTGGAGATAAAG	0.248																																																0																																										SO:0001589	frameshift_variant	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	Exception_encountered	chr7.hg19:g.6180604_6180605insTA	ENSP00000301962:p.Leu262fs		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Frame_Shift_Ins	INS	ENST00000306177.5	hg19	CCDS47535.1																																																																																				0.248	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		TA	6180605	-	TA	6180604	7	5	10	1	0	1	1	0	0	0	0	0	17078	1490	52	0	806	0	USP42	7	6180604	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JE-01A-11D-A42J-10		6180604	152958059	42	778											
CCDC146	57639	hgsc.bcm.edu	37	7	76885742	76885744	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr7:76885742_76885744delAGA	ENST00000285871.4	+	6	727_729	c.600_602delAGA	c.(598-603)cgagaa>cga	p.E201del	AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	201										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAATTTACGAGAAGATTTGGCA	0.325																																																0																																										SO:0001651	inframe_deletion	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.600_602delAGA	chr7.hg19:g.76885745_76885747delAGA	ENSP00000285871:p.Glu201del		A8K8X6|Q9P223	In_Frame_Del	DEL	ENST00000285871.4	hg19	CCDS34671.1																																																																																				0.325	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		-	76885744	AGA	-	76885742	7	5	10	1	0	1	0	1	0	0	0	0	2782	291	11	0	618	0	CCDC146	7	76885742	In_Frame_Del	DEL	AGA	TCGA-2Z-A9JE-01A-11D-A42J-10	70705138	76885742	82252921	43	779											
SEMA3E	9723	hgsc.bcm.edu	37	7	82997040	82997040	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr7:82997040C>G	ENST00000307792.3	-	17	2657	c.2190G>C	c.(2188-2190)gaG>gaC	p.E730D	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E670D	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	730					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACCATACTTTCTCGCAGTATT	0.463																																																0													171	168	169					7																	82997040		2203	4300	6503	SO:0001583	missense	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2190G>C	chr7.hg19:g.82997040C>G	ENSP00000303212:p.Glu730Asp		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	hg19	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180104	0.57800	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.80123	-1.34;-1.34	5.74	0.768	0.18487	.	0.000000	0.85682	D	0.000000	D	0.82683	0.5090	M	0.80746	2.51	0.51012	D	0.999905	B	0.33612	0.419	B	0.43018	0.405	T	0.79431	-0.1806	10	0.59425	D	0.04	.	10.2558	0.43397	0.0:0.3408:0.0:0.6592	.	730	O15041	SEM3E_HUMAN	D	730;670;730	ENSP00000303212:E730D;ENSP00000405052:E670D	ENSP00000303212:E730D	E	-	3	2	SEMA3E	82834976	0.988000	0.35896	0.971000	0.41717	0.958000	0.62258	0.183000	0.16919	-0.090000	0.12462	-0.482000	0.04802	GAG		0.463	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		G	82997040	C	G	82997040	3	3	10	1	0	0	0	0	1	0	0	0	14034	912	32	4	141	4	SEMA3E	7	82997040	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	6111298	82997040	76141623	44	780											
FLJ36031	168455	hgsc.bcm.edu	37	7	106301196	106301196	+	Silent	SNP	C	C	G			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr7:106301196C>G	ENST00000523505.1	-	1	246	c.147G>C	c.(145-147)ctG>ctC	p.L49L		NM_175884.4	NP_787080.2	Q8N9Z2	CC71L_HUMAN	coiled-coil domain containing 71-like	49										endometrium(1)	1						TGCTGTCAGCCAGCGACAGTT	0.677																																																0													13	16	15					7																	106301196		2068	4201	6269	SO:0001819	synonymous_variant	168455				CCDS55151.1	7q22.3	2011-12-12	2011-12-12	2011-12-12	ENSG00000253276	ENSG00000253276			26685	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 74"	C7orf74		12477932	Standard	NM_175884		Approved	FLJ36031	uc003vdt.3	Q8N9Z2	OTTHUMG00000164150	ENST00000523505.1:c.147G>C	chr7.hg19:g.106301196C>G			Q7Z756	Silent	SNP	ENST00000523505.1	hg19	CCDS55151.1																																																																																				0.677	CCDC71L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377493.1	NM_175884		G	106301196	C	G	106301196	2	3	10	1	0	0	0	0	0	0	0	1	5930	581	21	4		4	FLJ36031	7	106301196	Silent	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	23304156	106301196	52837467	45	781											
INTS10	55174	hgsc.bcm.edu	37	8	19680900	19680901	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr8:19680900_19680901insT	ENST00000397977.3	+	6	1010_1011	c.612_613insT	c.(613-615)tttfs	p.F205fs		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	205					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)		AAGCAGCTGAATTTTATATCAA	0.327																																																0																																										SO:0001589	frameshift_variant	55174			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.616dupT	chr8.hg19:g.19680904_19680904dupT	ENSP00000381064:p.Phe205fs		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Frame_Shift_Ins	INS	ENST00000397977.3	hg19	CCDS6011.2																																																																																				0.327	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		T	19680901	-	T	19680900	7	5	10	1	0	1	1	0	0	0	0	0	7778	98	4	0	634	0	INTS10	8	19680900	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JE-01A-11D-A42J-10		19680900	126683122	46	782											
GRINA	2907	hgsc.bcm.edu	37	8	145066228	145066230	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	CTG	CTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr8:145066228_145066230delCTG	ENST00000313269.5	+	4	953_955	c.675_677delCTG	c.(673-678)ccctgg>ccg	p.W226del	GRINA_ENST00000395068.4_In_Frame_Del_p.W226del	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	226						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAAGCACCCCTGGAACCTTGTT	0.581																																																0																																										SO:0001651	inframe_deletion	2907			NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 3"	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.675_677delCTG	chr8.hg19:g.145066228_145066230delCTG	ENSP00000314380:p.Trp226del		B3KXM7|O43836|Q8IVW7	In_Frame_Del	DEL	ENST00000313269.5	hg19	CCDS34961.1																																																																																				0.581	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		-	145066230	CTG	-	145066228	7	5	10	1	0	1	0	1	0	0	0	0	6787	668	24	0	685	0	GRINA	8	145066228	In_Frame_Del	DEL	CTG	TCGA-2Z-A9JE-01A-11D-A42J-10	125385328	145066228	1297794	47	783											
OMD	4958	hgsc.bcm.edu	37	9	95179162	95179162	+	Missense_Mutation	SNP	T	T	C	rs376323161		TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr9:95179162T>C	ENST00000375550.4	-	2	954	c.679A>G	c.(679-681)Atg>Gtg	p.M227V	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	227					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						CCAGGAGGCATTGATTCTAAT	0.333			T	USP6	aneurysmal bone cysts																																		Dom	yes		9	9q22.31	4958	osteomodulin		M	0								T	,VAL/MET	0,4406		0,0,2203	106	107	107		,679	5.5	1	9		107	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	OMD,CENPP	NM_001012267.1,NM_005014.2	,21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,possibly-damaging	,227/422	95179162	1,13005	2203	4300	6503	SO:0001583	missense	4958			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8134	protein-coding gene	gene with protein product	"osteoadherin proteoglycan"						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.679A>G	chr9.hg19:g.95179162T>C	ENSP00000364700:p.Met227Val		Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	hg19	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	t	13.99	2.403284	0.42613	0.0	1.16E-4	ENSG00000127083	ENST00000375550	T	0.03951	3.75	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.03136	0.0092	N	0.00436	-1.5	0.42460	D	0.992789	D	0.60575	0.988	P	0.52109	0.69	T	0.67833	-0.5568	10	0.52906	T	0.07	-16.0215	15.9136	0.79491	0.0:0.0:0.0:1.0	.	227	Q99983	OMD_HUMAN	V	227	ENSP00000364700:M227V	ENSP00000364700:M227V	M	-	1	0	OMD	94218983	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.112000	0.50368	2.216000	0.71823	0.528000	0.53228	ATG		0.333	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		C	95179162	T	C	95179162	3	2	10	1	0	0	0	0	1	0	0	0	10867	1493	52	3	594	3	OMD	9	95179162	Missense_Mutation	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10		95179162	46034269	48	784											
GRIN3A	116443	hgsc.bcm.edu	37	9	104433388	104433388	+	Splice_Site	SNP	A	A	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr9:104433388A>T	ENST00000361820.3	-	3	1906	c.1306T>A	c.(1306-1308)Ttt>Att	p.F436I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	436					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTGGCTAGAAACCTGGGAAAG	0.408																																																0													71	74	73					9																	104433388		2203	4300	6503	SO:0001630	splice_region_variant	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1305-1T>A	chr9.hg19:g.104433388A>T			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	hg19	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198025	0.79015	.	.	ENSG00000198785	ENST00000361820	D	0.86497	-2.13	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	M	0.79258	2.445	0.58432	D	0.999994	D	0.59767	0.986	P	0.61533	0.89	D	0.93383	0.6745	10	0.72032	D	0.01	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	436	Q8TCU5	NMD3A_HUMAN	I	436	ENSP00000355155:F436I	ENSP00000355155:F436I	F	-	1	0	GRIN3A	103473209	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.248000	0.95456	2.324000	0.78689	0.533000	0.62120	TTT		0.408	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		Missense_Mutation	T	104433388	A	T	104433388	5	4	10	1	0	0	0	0	0	0	1	0	6785	57	2	5	2069	5	GRIN3A	9	104433388	Splice_Site	SNP	A	TCGA-2Z-A9JE-01A-11D-A42J-10	9254226	104433388	36780043	49	785											
FBXW2	26190	hgsc.bcm.edu	37	9	123533652	123533652	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr9:123533652C>G	ENST00000608872.1	-	7	1237	c.1050G>C	c.(1048-1050)tgG>tgC	p.W350C	FBXW2_ENST00000493559.1_5'UTR|FBXW2_ENST00000340778.5_Missense_Mutation_p.W285C	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	350					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGGCAAAGTCCCACTGGTAGA	0.428																																																0													101	90	93					9																	123533652		1905	4133	6038	SO:0001583	missense	26190			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1050G>C	chr9.hg19:g.123533652C>G	ENSP00000476369:p.Trp350Cys		B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	hg19	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824693	0.90955	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.30981	1.51;1.51	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	M	0.74467	2.265	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.77557	0.823;0.99;0.99	T	0.58792	-0.7574	10	0.87932	D	0	-4.808	17.8518	0.88748	0.0:1.0:0.0:0.0	.	285;350;350	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	C	350;285;350	ENSP00000363036:W350C;ENSP00000341161:W285C	ENSP00000341161:W285C	W	-	3	0	FBXW2	122573473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	TGG		0.428	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			G	123533652	C	G	123533652	3	3	10	1	0	0	0	0	1	0	0	0	5768	624	22	4	322	4	FBXW2	9	123533652	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	19100264	123533652	17679779	50	786											
ZNF79	7633	hgsc.bcm.edu	37	9	130197411	130197411	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr9:130197411G>A	ENST00000342483.5	+	3	554	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	ZNF79_ENST00000543471.1_Missense_Mutation_p.E26K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						TTTTGCACAGGAAAGGTGGAG	0.507																																																0													140	135	137					9																	130197411		2203	4300	6503	SO:0001583	missense	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.148G>A	chr9.hg19:g.130197411G>A	ENSP00000362446:p.Glu50Lys		Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	hg19	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671323	0.29693	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.01295	5.04;5.04	3.19	0.134	0.14771	Krueppel-associated box (3);	.	.	.	.	T	0.01800	0.0057	L	0.56396	1.775	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	9	0.62326	D	0.03	.	3.6122	0.08065	0.2508:0.2087:0.5405:0.0	.	50	Q15937	ZNF79_HUMAN	K	50;26	ENSP00000362446:E50K;ENSP00000438418:E26K	ENSP00000362446:E50K	E	+	1	0	ZNF79	129237232	0.009000	0.17119	0.000000	0.03702	0.032000	0.12392	0.751000	0.26348	-0.088000	0.12506	0.462000	0.41574	GAA		0.507	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		A	130197411	G	A	130197411	3	1	10	1	0	0	0	0	1	0	0	0	18166	1175	41	2	158	2	ZNF79	9	130197411	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	6663759	130197411	11016020	51	787											
ADARB2	105	hgsc.bcm.edu	37	10	1279742	1279743	+	Frame_Shift_Del	DEL	TT	TT	-	rs191642114		TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr10:1279742_1279743delTT	ENST00000381312.1	-	6	1731_1732	c.1406_1407delAA	c.(1405-1407)aaafs	p.K469fs	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	469	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		AGCCACCTTCTTTTAACCGCAC	0.53																																																0																																										SO:0001589	frameshift_variant	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1406_1407delAA	chr10.hg19:g.1279744_1279745delTT	ENSP00000370713:p.Lys469fs		B2RPJ5|Q5VUT6|Q5VW42	Frame_Shift_Del	DEL	ENST00000381312.1	hg19	CCDS7058.1																																																																																				0.53	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		-	1279743	TT	-	1279742	7	5	10	1	0	1	0	1	0	0	0	0	283	1606	56	0	832	0	ADARB2	10	1279742	Frame_Shift_Del	DEL	TT	TCGA-2Z-A9JE-01A-11D-A42J-10		1279742	134255005	52	788											
KIAA1462	57608	hgsc.bcm.edu	37	10	30315194	30315194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr10:30315194G>A	ENST00000375377.1	-	3	3984	c.3883C>T	c.(3883-3885)Cag>Tag	p.Q1295*		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1295					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGCCCGGCCTGGCCCCTTGTG	0.612																																																0													50	50	50					10																	30315194		1881	4108	5989	SO:0001587	stop_gained	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3883C>T	chr10.hg19:g.30315194G>A	ENSP00000364526:p.Gln1295*		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Nonsense_Mutation	SNP	ENST00000375377.1	hg19	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	40	8.310626	0.98754	.	.	ENSG00000165757	ENST00000375377	.	.	.	4.92	4.01	0.46588	.	1.055720	0.07447	N	0.898331	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	0.0089	10.5989	0.45354	0.0947:0.0:0.9053:0.0	.	.	.	.	X	1295	.	ENSP00000364526:Q1295X	Q	-	1	0	KIAA1462	30355200	0.000000	0.05858	0.002000	0.10522	0.066000	0.16364	0.115000	0.15540	1.069000	0.40788	0.655000	0.94253	CAG		0.612	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		A	30315194	G	A	30315194	4	1	10	1	0	0	0	0	0	1	0	0	8236	1357	47	2	204	2	KIAA1462	10	30315194	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	29035452	30315194	105219553	53	789											
C10orf10	11067	hgsc.bcm.edu	37	10	45473410	45473410	+	Silent	SNP	C	C	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr10:45473410C>A	ENST00000298295.3	-	2	286	c.69G>T	c.(67-69)ctG>ctT	p.L23L	RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000340258.5_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000472561.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	23						mitochondrion (GO:0005739)				lung(1)	1						GACCCCCAAGCAGCATCTCCT	0.617																																																0													47	51	50					10																	45473410		2202	4296	6498	SO:0001819	synonymous_variant	11067			AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"decidual protein induced by progesterone", "fasting induced", "fat-specific expressed gene"	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.69G>T	chr10.hg19:g.45473410C>A			B2R6A1|O94997|Q5T735|Q76MX8	Silent	SNP	ENST00000298295.3	hg19	CCDS7210.1																																																																																				0.617	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		A	45473410	C	A	45473410	2	1	10	1	0	0	0	0	0	0	0	1	1582	697	25	4		4	C10orf10	10	45473410	Silent	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	15158216	45473410	90061337	54	790											
PPYR1	5540	hgsc.bcm.edu	37	10	47086821	47086842	+	Frame_Shift_Del	DEL	AATCTCCACAAGGTGAAAACAG	AATCTCCACAAGGTGAAAACAG	-			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	AATCTCCACAAGGTGAAAACAG	AATCTCCACAAGGTGAAAACAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr10:47086821_47086842delAATCTCCACAAGGTGAAAACAG	ENST00000395716.1	+	2	123_144	c.38_59delAATCTCCACAAGGTGAAAACAG	c.(37-60)aaatctccacaaggtgaaaacagafs	p.KSPQGENR13fs	NPY4R_ENST00000374312.1_Frame_Shift_Del_p.KSPQGENR13fs			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	13					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CTGCTCCCAAAATCTCCACAAGGTGAAAACAGAAGCAAACCC	0.491																																																0																																										SO:0001589	frameshift_variant	5540				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.38_59delAATCTCCACAAGGTGAAAACAG	chr10.hg19:g.47086821_47086842delAATCTCCACAAGGTGAAAACAG	ENSP00000379066:p.Lys13fs		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Frame_Shift_Del	DEL	ENST00000395716.1	hg19	CCDS31193.1																																																																																				0.491	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			-	47086842	AATCTCCACAAGGTGAAAACAG	-	47086821	7	5	10	1	0	1	0	1	0	0	0	0	12421	14	1	0	40	0	PPYR1	10	47086821	Frame_Shift_Del	DEL	AATCTCCACAAGGTGAAAACAG	TCGA-2Z-A9JE-01A-11D-A42J-10	1613411	47086821	88447926	55	791											
TIMM23	100287932	hgsc.bcm.edu	37	10	51623127	51623127	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr10:51623127C>T	ENST00000260867.4	-	1	211	c.88G>A	c.(88-90)Gat>Aat	p.D30N	TIMM23_ENST00000374065.3_Missense_Mutation_p.D30N|TIMM23_ENST00000374064.3_Missense_Mutation_p.D30N	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	30					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			endometrium(1)|large_intestine(1)|pancreas(1)	3						CCAGCCAAATCCGCGTGCGAG	0.562																																																0													14	14	14					10																	51623127		2190	4252	6442	SO:0001583	missense	100287932			AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.88G>A	chr10.hg19:g.51623127C>T	ENSP00000260867:p.Asp30Asn		Q53FF8|Q5T1E6|Q6P5S5	Missense_Mutation	SNP	ENST00000260867.4	hg19	CCDS7238.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.026269|3.026269	0.54683|0.54683	.|.	.|.	ENSG00000138297|ENSG00000138297	ENST00000260867;ENST00000374064;ENST00000374065|ENST00000444743	.|.	.|.	.|.	4.5|4.5	3.59|3.59	0.41128|0.41128	.|.	0.052211|.	0.85682|.	D|.	0.000000|.	T|T	0.49270|0.49270	0.1547|0.1547	L|L	0.27053|0.27053	0.805|0.805	0.45704|0.45704	D|D	0.998618|0.998618	P;P|.	0.42078|.	0.77;0.608|.	B;B|.	0.42827|.	0.399;0.202|.	T|T	0.39057|0.39057	-0.9632|-0.9632	9|5	0.33940|.	T|.	0.23|.	-6.7486|-6.7486	11.0311|11.0311	0.47774|0.47774	0.0:0.9103:0.0:0.0897|0.0:0.9103:0.0:0.0897	.|.	30;30|.	B1APJ0;O14925|.	.;TIM23_HUMAN|.	N|E	30|26	.|.	ENSP00000260867:D30N|.	D|G	-|-	1|2	0|0	TIMM23|TIMM23	51293133|51293133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.781000|0.781000	0.44180|0.44180	6.170000|6.170000	0.71920|0.71920	1.237000|1.237000	0.43756|0.43756	-0.216000|-0.216000	0.12614|0.12614	GAT|GGA		0.562	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048040.1	NM_006327.2		T	51623127	C	T	51623127	3	4	10	1	0	0	0	0	1	0	0	0	15916	855	30	2	569	2	TIMM23	10	51623127	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	4536306	51623127	83911620	56	792											
RAG1	5896	hgsc.bcm.edu	37	11	36596889	36596889	+	Missense_Mutation	SNP	A	A	C	rs143227621		TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr11:36596889A>C	ENST00000299440.5	+	2	2147	c.2035A>C	c.(2035-2037)Att>Ctt	p.I679L		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	679					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAGTCCTCTCATTGCTGAGAG	0.512									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											0													56	51	52					11																	36596889		2202	4298	6500	SO:0001583	missense	5896	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2035A>C	chr11.hg19:g.36596889A>C	ENSP00000299440:p.Ile679Leu		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	hg19	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103025	0.56183	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.85702	-2.02;-2.02	5.98	3.67	0.42095	.	0.171732	0.49916	D	0.000132	D	0.83069	0.5174	M	0.69248	2.105	0.44816	D	0.997826	B	0.21520	0.057	B	0.27076	0.076	T	0.78453	-0.2198	10	0.87932	D	0	.	9.4229	0.38561	0.8006:0.0:0.1994:0.0	.	679	P15918	RAG1_HUMAN	L	679	ENSP00000434610:I679L;ENSP00000299440:I679L	ENSP00000299440:I679L	I	+	1	0	RAG1	36553465	1.000000	0.71417	0.939000	0.37840	0.991000	0.79684	3.264000	0.51553	0.519000	0.28406	0.524000	0.50904	ATT		0.512	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		C	36596889	A	C	36596889	3	2	10	1	0	0	0	0	1	0	0	0	13009	217	8	5	2037	5	RAG1	11	36596889	Missense_Mutation	SNP	A	TCGA-2Z-A9JE-01A-11D-A42J-10		36596889	98409627	57	793											
CELF1	10658	hgsc.bcm.edu	37	11	47498949	47498950	+	Frame_Shift_Ins	INS	-	-	A	rs35704230		TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr11:47498949_47498950insA	ENST00000358597.3	-	8	790_791	c.791_792insT	c.(790-792)ttgfs	p.L264fs	CELF1_ENST00000539455.1_5'Flank|CELF1_ENST00000310513.5_Frame_Shift_Ins_p.L260fs|CELF1_ENST00000361904.3_Frame_Shift_Ins_p.L260fs|CELF1_ENST00000531165.1_Frame_Shift_Ins_p.L291fs|CELF1_ENST00000395292.2_Frame_Shift_Ins_p.L260fs|CELF1_ENST00000395290.2_Frame_Shift_Ins_p.L263fs|CELF1_ENST00000532048.1_Frame_Shift_Ins_p.L290fs			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	264					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CTAGTGCAGCCAAATTCTGTAA	0.485																																					Pancreas(163;1949 1966 9906 43218 43785)											0																																										SO:0001589	frameshift_variant	10658			U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	2549	protein-coding gene	gene with protein product	"CUG RNA-binding protein", "nuclear polyadenylated RNA-binding protein, 50-kD", "bruno-like 2", "embryo deadenylation element binding protein"	601074	"CUG triplet repeat, RNA-binding protein 1", "CUG triplet repeat, RNA binding protein 1"	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.792dupT	chr11.hg19:g.47498952_47498952dupA	ENSP00000351409:p.Leu264fs		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Frame_Shift_Ins	INS	ENST00000358597.3	hg19	CCDS31482.1																																																																																				0.485	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		A	47498950	-	A	47498949	7	5	10	1	0	1	1	0	0	0	0	0	3217	593	21	0	691	0	CELF1	11	47498949	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JE-01A-11D-A42J-10	10902060	47498949	87507567	58	794											
SSRP1	6749	hgsc.bcm.edu	37	11	57102553	57102553	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr11:57102553T>A	ENST00000278412.2	-	2	309	c.43A>T	c.(43-45)Aaa>Taa	p.K15*		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	15					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						ATGGAACCTTTCACCTCCTGA	0.522																																					Colon(89;1000 1340 6884 23013 41819)											0													392	378	383					11																	57102553		2201	4296	6497	SO:0001587	stop_gained	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.43A>T	chr11.hg19:g.57102553T>A	ENSP00000278412:p.Lys15*		Q5BJG8	Nonsense_Mutation	SNP	ENST00000278412.2	hg19	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	T	40	8.368646	0.98781	.	.	ENSG00000149136	ENST00000278412	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-22.8175	16.0566	0.80812	0.0:0.0:0.0:1.0	.	.	.	.	X	15	.	ENSP00000278412:K15X	K	-	1	0	SSRP1	56859129	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.528000	0.81941	2.272000	0.75746	0.460000	0.39030	AAA		0.522	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		A	57102553	T	A	57102553	4	1	10	1	0	0	0	0	0	1	0	0	15199	1792	62	5	2150	5	SSRP1	11	57102553	Nonsense_Mutation	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10	9603604	57102553	77903963	59	795											
DAK	26007	hgsc.bcm.edu	37	11	61111630	61111630	+	Silent	SNP	G	G	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr11:61111630G>A	ENST00000394900.3	+	13	1354	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	375	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCGGATGGCGCTGGTGCTGG	0.627																																																0													58	52	54					11																	61111630		2203	4299	6502	SO:0001819	synonymous_variant	26007				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1125G>A	chr11.hg19:g.61111630G>A			Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	ENST00000394900.3	hg19	CCDS8003.1																																																																																				0.627	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		A	61111630	G	A	61111630	2	1	10	1	0	0	0	0	0	0	0	1	4230	1074	38	1		1	DAK	11	61111630	Silent	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	4009077	61111630	73894886	60	796											
FAM86C	55199	hgsc.bcm.edu	37	11	71504494	71504494	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr11:71504494G>T	ENST00000359244.4	+	3	251	c.228G>T	c.(226-228)aaG>aaT	p.K76N	FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000426628.2_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	76										lung(1)	1						TGATGGCCAAGGAGTCCACCC	0.582																																																0													31	29	30					11																	71504494		2146	4258	6404	SO:0001583	missense	55199			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.228G>T	chr11.hg19:g.71504494G>T	ENSP00000352182:p.Lys76Asn		Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	hg19	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	3.988	-0.005114	0.07773	.	.	ENSG00000158483	ENST00000359244	T	0.03689	3.84	2.05	1.07	0.20283	.	.	.	.	.	T	0.03477	0.0100	L	0.43152	1.355	0.80722	D	1	B	0.24920	0.114	B	0.17098	0.017	T	0.42548	-0.9445	9	0.72032	D	0.01	.	4.3775	0.11277	0.2179:0.0:0.7821:0.0	.	76	Q9NVL1	FA86C_HUMAN	N	76	ENSP00000352182:K76N	ENSP00000352182:K76N	K	+	3	2	FAM86C1	71182142	0.990000	0.36364	0.357000	0.25798	0.051000	0.14879	0.917000	0.28665	0.181000	0.19994	0.184000	0.17185	AAG		0.582	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		T	71504494	G	T	71504494	3	4	10	1	0	0	0	0	1	0	0	0	5648	991	35	4	323	4	FAM86C	11	71504494	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	10392864	71504494	63502022	61	797											
PATE1	160065	hgsc.bcm.edu	37	11	125618623	125618623	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr11:125618623C>T	ENST00000305738.5	+	5	388	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	PATE1_ENST00000437148.2_Missense_Mutation_p.L114F	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	126						extracellular region (GO:0005576)				large_intestine(1)|lung(5)	6						CAATGAAGACCTTTAGAAGTT	0.448																																																0													159	140	146					11																	125618623		2201	4299	6500	SO:0001583	missense	160065			AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"PATE family"	24664	protein-coding gene	gene with protein product	"expressed in prostate and testis"	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.376C>T	chr11.hg19:g.125618623C>T	ENSP00000307164:p.Leu126Phe		Q3KNX2	Missense_Mutation	SNP	ENST00000305738.5	hg19	CCDS8464.1	.	.	.	.	.	.	.	.	.	.	C	5.470	0.271808	0.10349	.	.	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.28255	1.62;1.68	4.07	-4.44	0.03557	.	0.700859	0.11743	N	0.533837	T	0.13415	0.0325	N	0.14661	0.345	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.19946	0.016;0.027	T	0.18493	-1.0335	10	0.35671	T	0.21	-0.2771	4.3005	0.10922	0.5287:0.2:0.0:0.2713	.	114;126	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	F	126;114	ENSP00000307164:L126F;ENSP00000396056:L114F	ENSP00000307164:L126F	L	+	1	0	PATE1	125123833	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.846000	0.04336	-0.985000	0.03503	-0.143000	0.13931	CTT		0.448	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386726.2	NM_138294		T	125618623	C	T	125618623	3	4	10	1	0	0	0	0	1	0	0	0	11475	681	24	2	394	2	PATE1	11	125618623	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	54114129	125618623	9387893	62	798											
TAS2R19	259294	hgsc.bcm.edu	37	12	11174899	11174899	+	Missense_Mutation	SNP	G	G	A	rs550008134		TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr12:11174899G>A	ENST00000390673.2	-	1	320	c.272C>T	c.(271-273)aCg>aTg	p.T91M	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	91					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GAAATGGTTCGTTACAGCCCA	0.393													.|||	1	0.000199681	0.0008	0.0	5008	,	,		22828	0.0		0.0	False		,,,				2504	0.0															0													84	85	85					12																	11174899		2203	4299	6502	SO:0001583	missense	259294			AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19108	protein-coding gene	gene with protein product		613961	"taste receptor, type 2, member 48", "taste receptor, type 2, member 23"	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.272C>T	chr12.hg19:g.11174899G>A	ENSP00000375091:p.Thr91Met		Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	hg19	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420729	0.25639	.	.	ENSG00000212124	ENST00000390673	T	0.37752	1.18	2.55	-5.1	0.02911	.	2.297980	0.02805	N	0.123574	T	0.55353	0.1915	M	0.87456	2.885	0.09310	N	1	D	0.59767	0.986	D	0.63113	0.911	T	0.61332	-0.7084	10	0.62326	D	0.03	.	1.2085	0.01899	0.2053:0.1607:0.3984:0.2355	.	91	P59542	T2R19_HUMAN	M	91	ENSP00000375091:T91M	ENSP00000375091:T91M	T	-	2	0	TAS2R19	11066166	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.414000	0.00479	-2.602000	0.00450	-1.220000	0.01600	ACG		0.393	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		A	11174899	G	A	11174899	3	1	10	1	0	0	0	0	1	0	0	0	15575	1145	40	1	630	1	TAS2R19	12	11174899	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10		11174899	122676996	63	799											
KRT2	3849	hgsc.bcm.edu	37	12	53045631	53045632	+	In_Frame_Ins	INS	-	-	CGCCTCCAAAGCCGCTGC			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr12:53045631_53045632insCGCCTCCAAAGCCGCTGC	ENST00000309680.3	-	1	316_317	c.295_296insGCAGCGGCTTTGGAGGCG	c.(295-297)ggc>gGCAGCGGCTTTGGAGGCGgc	p.99_99G>GSGFGGG		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	99	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		aaagctgctgccgcctccaaaa	0.619																																																0																																										SO:0001652	inframe_insertion	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.295_296insGCAGCGGCTTTGGAGGCG	chr12.hg19:g.53045631_53045632insCGCCTCCAAAGCCGCTGC	Exception_encountered		Q4VAQ2	In_Frame_Ins	INS	ENST00000309680.3	hg19	CCDS8835.1																																																																																				0.619	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		CGCCTCCAAAGCCGCTGC	53045632	-	CGCCTCCAAAGCCGCTGC	53045631	7	5	10	1	0	1	1	0	0	0	0	0	8459	739	26	0	1659	0	KRT2	12	53045631	In_Frame_Ins	INS	-	TCGA-2Z-A9JE-01A-11D-A42J-10	41870732	53045631	80806264	64	800											
GPR133	283383	hgsc.bcm.edu	37	12	131466438	131466438	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr12:131466438T>C	ENST00000261654.5	+	5	879	c.320T>C	c.(319-321)tTt>tCt	p.F107S	GPR133_ENST00000535015.1_Missense_Mutation_p.F139S	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	107					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGGGTCACGTTTTCTTTTTTC	0.458																																																0													100	98	99					12																	131466438		2203	4300	6503	SO:0001583	missense	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.320T>C	chr12.hg19:g.131466438T>C	ENSP00000261654:p.Phe107Ser		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	hg19	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.593261	0.46214	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.75154	-0.91;-0.91	4.28	4.28	0.50868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.140598	0.47852	D	0.000204	D	0.84705	0.5531	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86671	0.1910	10	0.87932	D	0	.	12.924	0.58249	0.0:0.0:0.0:1.0	.	139;107	B7ZLF7;Q6QNK2	.;GP133_HUMAN	S	107;139	ENSP00000261654:F107S;ENSP00000444425:F139S	ENSP00000261654:F107S	F	+	2	0	GPR133	130032391	1.000000	0.71417	0.019000	0.16419	0.079000	0.17450	6.609000	0.74173	1.703000	0.51240	0.460000	0.39030	TTT		0.458	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		C	131466438	T	C	131466438	3	2	10	1	0	0	0	0	1	0	0	0	6645	1841	64	3	338	3	GPR133	12	131466438	Missense_Mutation	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10	78420807	131466438	2385457	65	801											
PROX2	283571	hgsc.bcm.edu	37	14	75321933	75321933	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr14:75321933C>A	ENST00000445876.1	-	5	1680	c.1681G>T	c.(1681-1683)Gac>Tac	p.D561Y	PROX2_ENST00000556084.2_Missense_Mutation_p.D334Y|RP11-316E14.6_ENST00000553381.1_RNA|PROX2_ENST00000556489.2_Missense_Mutation_p.D561Y			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	561	Prospero-like.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGATCTGAGTCTCTCCCTGCG	0.448																																																0													51	49	49					14																	75321933		1854	4093	5947	SO:0001583	missense	283571				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"Homeoboxes / PROS class"	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1681G>T	chr14.hg19:g.75321933C>A	ENSP00000405932:p.Asp561Tyr		C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	hg19	CCDS45136.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.682820|4.682820	0.88542|0.88542	.|.	.|.	ENSG00000119608|ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876|ENST00000556084	T;T|.	0.59906|.	0.23;0.23|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.157197|.	0.56097|.	D|.	0.000038|.	T|T	0.77870|0.77870	0.4195|0.4195	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.78417|0.78417	-0.2212|-0.2212	10|5	0.87932|.	D|.	0|.	.|.	18.7863|18.7863	0.91955|0.91955	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	561;334|.	G3V3G0;Q3B8N5-2|.	.;.|.	Y|D	561;561;334;561|333	ENSP00000451223:D561Y;ENSP00000405932:D561Y|.	ENSP00000374315:D561Y|.	D|E	-|-	1|3	0|2	PROX2|PROX2	74391686|74391686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.818000|7.818000	0.86416|0.86416	2.446000|2.446000	0.82766|0.82766	0.462000|0.462000	0.41574|0.41574	GAC|GAG		0.448	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	75321933	C	A	75321933	3	1	10	1	0	0	0	0	1	0	0	0	12566	913	32	4	101	4	PROX2	14	75321933	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10		75321933	32027607	66	802											
ANGEL1	23357	hgsc.bcm.edu	37	14	77275538	77275538	+	Silent	SNP	T	T	C			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr14:77275538T>C	ENST00000251089.2	-	2	625	c.513A>G	c.(511-513)acA>acG	p.T171T	ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	171										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCCACTGCTCTGTGGCCAGGG	0.657																																																0													29	28	29					14																	77275538		2203	4300	6503	SO:0001819	synonymous_variant	23357			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.513A>G	chr14.hg19:g.77275538T>C			B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	hg19	CCDS9852.1																																																																																				0.657	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		C	77275538	T	C	77275538	2	2	10	1	0	0	0	0	0	0	0	1	608	1567	55	3		3	ANGEL1	14	77275538	Silent	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10	1953605	77275538	30074002	67	803											
MYO1E	4643	hgsc.bcm.edu	37	15	59466345	59466345	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr15:59466345T>C	ENST00000288235.4	-	20	2543	c.2144A>G	c.(2143-2145)tAc>tGc	p.Y715C	MIR2116_ENST00000517221.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	715	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CATTTGAACGTATTTCTTCCG	0.343																																																0													130	134	133					15																	59466345		2191	4291	6482	SO:0001583	missense	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.2144A>G	chr15.hg19:g.59466345T>C	ENSP00000288235:p.Tyr715Cys		Q14778	Missense_Mutation	SNP	ENST00000288235.4	hg19	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863662	0.71949	.	.	ENSG00000157483	ENST00000288235	D	0.96073	-3.9	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.85373	2.75	0.80722	D	1	D	0.67145	0.996	P	0.60886	0.88	D	0.97585	1.0113	10	0.51188	T	0.08	.	15.4114	0.74923	0.0:0.0:0.0:1.0	.	715	Q12965	MYO1E_HUMAN	C	715	ENSP00000288235:Y715C	ENSP00000288235:Y715C	Y	-	2	0	MYO1E	57253637	1.000000	0.71417	0.962000	0.40283	0.856000	0.48823	6.126000	0.71635	2.220000	0.72140	0.533000	0.62120	TAC		0.343	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		C	59466345	T	C	59466345	3	2	10	1	0	0	0	0	1	0	0	0	10074	1638	57	3	1218	3	MYO1E	15	59466345	Missense_Mutation	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10		59466345	43065047	68	804											
ATF7IP2	80063	hgsc.bcm.edu	37	16	10525251	10525251	+	Silent	SNP	T	T	C			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr16:10525251T>C	ENST00000396560.2	+	3	1001	c.774T>C	c.(772-774)agT>agC	p.S258S	ATF7IP2_ENST00000324570.5_Silent_p.S258S|ATF7IP2_ENST00000356427.2_Silent_p.S258S|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.S258S	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GTAGAACCAGTATTTCAAATT	0.338																																																0													62	63	63					16																	10525251		2197	4300	6497	SO:0001819	synonymous_variant	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.774T>C	chr16.hg19:g.10525251T>C			B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	hg19	CCDS10540.1																																																																																				0.338	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		C	10525251	T	C	10525251	2	2	10	1	0	0	0	0	0	0	0	1	1088	1635	57	3		3	ATF7IP2	16	10525251	Silent	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10		10525251	79829502	69	805											
TXNDC11	51061	hgsc.bcm.edu	37	16	11782282	11782282	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr16:11782282G>T	ENST00000356957.3	-	10	2108	c.2001C>A	c.(1999-2001)ttC>ttA	p.F667L	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.F640L			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	667	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGAGAACGCTGAAGTTTTGAA	0.378																																																0													46	48	47					16																	11782282		2197	4300	6497	SO:0001583	missense	51061			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2001C>A	chr16.hg19:g.11782282G>T	ENSP00000349439:p.Phe667Leu		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	hg19		.	.	.	.	.	.	.	.	.	.	G	19.95	3.922136	0.73213	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.21543	2.0;2.0	5.97	5.02	0.67125	Thioredoxin-like fold (1);	0.098588	0.64402	D	0.000001	T	0.30293	0.0760	M	0.64170	1.965	0.58432	D	0.999998	P;P	0.41498	0.752;0.649	P;B	0.44732	0.459;0.149	T	0.06716	-1.0811	10	0.72032	D	0.01	-23.2994	14.0652	0.64824	0.0718:0.0:0.9282:0.0	.	667;640	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	L	667;640	ENSP00000349439:F667L;ENSP00000283033:F640L	ENSP00000283033:F640L	F	-	3	2	TXNDC11	11689783	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.999000	0.76283	1.535000	0.49220	0.655000	0.94253	TTC		0.378	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		T	11782282	G	T	11782282	3	4	10	1	0	0	0	0	1	0	0	0	16797	1281	45	4	972	4	TXNDC11	16	11782282	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	1257031	11782282	78572471	70	806											
MKL2	57496	hgsc.bcm.edu	37	16	14355241	14355241	+	Silent	SNP	G	G	A	rs150140535		TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr16:14355241G>A	ENST00000341243.5	+	15	3207	c.3207G>A	c.(3205-3207)gcG>gcA	p.A1069A	MKL2_ENST00000318282.5_Silent_p.A1030A|MKL2_ENST00000574045.1_Silent_p.A1030A|MKL2_ENST00000571589.1_Silent_p.A1080A			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	1069					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCACCACCGCGCCGAGCATGT	0.507																																																0								G		0,4394		0,0,2197	72	69	70		3090	-4.2	0	16	dbSNP_134	70	1,8599		0,1,4299	no	coding-synonymous	MKL2	NM_014048.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1030/1050	14355241	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.3207G>A	chr16.hg19:g.14355241G>A			A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	hg19																																																																																					0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		A	14355241	G	A	14355241	2	1	10	1	0	0	0	0	0	0	0	1	9604	1074	38	1		1	MKL2	16	14355241	Silent	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	2572959	14355241	75999512	71	807											
KIAA0430	9665	hgsc.bcm.edu	37	16	15702262	15702262	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr16:15702262C>T	ENST00000396368.3	-	21	4274	c.4068G>A	c.(4066-4068)atG>atA	p.M1356I	CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Missense_Mutation_p.M1191I|KIAA0430_ENST00000548025.1_Missense_Mutation_p.M1353I|KIAA0430_ENST00000547936.1_5'Flank|KIAA0430_ENST00000602337.1_Missense_Mutation_p.M1353I|KIAA0430_ENST00000344181.3_Missense_Mutation_p.M958I|KIAA0430_ENST00000551742.1_Missense_Mutation_p.M1356I	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1356	HTH OST-type 6. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GATCTGTCATCATAAGGCAGT	0.408																																																0													97	94	95					16																	15702262		1863	4103	5966	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4068G>A	chr16.hg19:g.15702262C>T	ENSP00000379654:p.Met1356Ile		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	hg19	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554977	0.45487	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.87	4.87	0.63330	.	0.198570	0.56097	D	0.000028	T	0.28433	0.0703	N	0.14661	0.345	0.33689	D	0.613049	B;B;B;B	0.34399	0.274;0.452;0.452;0.32	B;B;B;B	0.35182	0.124;0.117;0.117;0.197	T	0.44003	-0.9356	10	0.48119	T	0.1	.	13.6513	0.62312	0.2707:0.7293:0.0:0.0	.	1355;1353;1352;1355	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	I	1356;1191;1296;958;1353;1356;1136	ENSP00000379654:M1356I;ENSP00000439819:M1191I;ENSP00000341939:M958I;ENSP00000449376:M1353I;ENSP00000450309:M1356I	ENSP00000315718:M1296I	M	-	3	0	KIAA0430	15609763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.870000	0.39529	2.781000	0.95711	0.655000	0.94253	ATG		0.408	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		T	15702262	C	T	15702262	3	4	10	1	0	0	0	0	1	0	0	0	8179	826	29	2	1188	2	KIAA0430	16	15702262	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	1347021	15702262	74652491	72	808											
MAZ	4150	hgsc.bcm.edu	37	16	29820995	29820995	+	Intron	SNP	C	C	T	rs71143751|rs561533545		TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr16:29820995C>T	ENST00000322945.6	+	5	1444				PRRT2_ENST00000300797.6_5'Flank|AC009133.15_ENST00000566537.1_RNA|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000566906.2_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000219782.6_Nonsense_Mutation_p.Q472*|MAZ_ENST00000568544.1_Intron|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000545521.1_Intron|MAZ_ENST00000562337.1_Intron|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000568282.1_Nonsense_Mutation_p.Q73*	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CGGCCACATGCAGACCCATCT	0.736																																					Colon(72;875 1167 15364 30899 37091)											0													7	9	8					16																	29820995		1899	4077	5976	SO:0001627	intron_variant	4150			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1280-403C>T	chr16.hg19:g.29820995C>T			A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Nonsense_Mutation	SNP	ENST00000322945.6	hg19	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839048	0.91117	.	.	ENSG00000103495	ENST00000219782	.	.	.	4.64	3.67	0.42095	.	11.966600	0.00496	U	0.000156	.	.	.	.	.	.	0.53688	A	0.999978	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	10.112	0.42568	0.0:0.9001:0.0:0.0999	.	.	.	.	X	472	.	ENSP00000219782:Q472X	Q	+	1	0	MAZ	29728496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.967000	0.56802	2.313000	0.78055	0.561000	0.74099	CAG		0.736	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		T	29820995	C	T	29820995	1	4	10	0	1	0	0	0	0	0	0	0	9342	711	25	2		2	MAZ	16	29820995	Intron	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	14118733	29820995	60533758	73	809											
CMTM3	123920	hgsc.bcm.edu	37	16	66643431	66643431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr16:66643431delG	ENST00000424011.2	+	4	923	c.397delG	c.(397-399)gggfs	p.G133fs	CMTM3_ENST00000568477.1_Frame_Shift_Del_p.G47fs|CMTM3_ENST00000562707.1_Frame_Shift_Del_p.G133fs|CMTM3_ENST00000566121.1_Frame_Shift_Del_p.G47fs|CMTM3_ENST00000460097.1_Frame_Shift_Del_p.G47fs|CMTM3_ENST00000564060.1_Intron|CMTM3_ENST00000565666.1_Frame_Shift_Del_p.G48fs|CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000565003.1_Frame_Shift_Del_p.G47fs|CMTM3_ENST00000360086.4_Intron|CMTM3_ENST00000361909.4_Frame_Shift_Del_p.G133fs|CMTM3_ENST00000567572.1_Frame_Shift_Del_p.G133fs			Q96MX0	CKLF3_HUMAN	CKLF-like MARVEL transmembrane domain containing 3	133	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|positive regulation of B cell receptor signaling pathway (GO:0050861)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				central_nervous_system(1)|endometrium(1)|lung(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		CAAAGCCGCTGGGGTGAGCAG	0.642																																																0													26	24	25					16																	66643431		2197	4298	6495	SO:0001589	frameshift_variant	123920			AK056324	CCDS10815.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140931	ENSG00000140931			19174	protein-coding gene	gene with protein product		607886	"chemokine-like factor superfamily 3"	CKLFSF3		15087455	Standard	NM_144601		Approved	FLJ31762, BNAS2	uc002epv.3	Q96MX0	OTTHUMG00000137503	ENST00000424011.2:c.397delG	chr16.hg19:g.66643431delG	ENSP00000400482:p.Gly133fs		A6NCL9|Q8IUU8|Q8IWQ6|Q8IYE2|Q8IZ39|Q8IZ59	Frame_Shift_Del	DEL	ENST00000424011.2	hg19	CCDS10815.1																																																																																				0.642	CMTM3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268814.2	NM_144601		-	66643431	G	-	66643431	7	5	10	1	0	1	0	1	0	0	0	0	3586	1348	47	0	407	0	CMTM3	16	66643431	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JE-01A-11D-A42J-10	36822436	66643431	23711322	74	810											
ITGAE	3682	hgsc.bcm.edu	37	17	3638168	3638168	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr17:3638168G>T	ENST00000263087.4	-	21	2696	c.2598C>A	c.(2596-2598)taC>taA	p.Y866*	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	866					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGCTTGTCATGTAGGAATCTT	0.507																																					NSCLC(182;635 2928 8995 38788)											0													280	262	268					17																	3638168		2203	4300	6503	SO:0001587	stop_gained	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2598C>A	chr17.hg19:g.3638168G>T	ENSP00000263087:p.Tyr866*		Q17RS6|Q9NZU9	Nonsense_Mutation	SNP	ENST00000263087.4	hg19	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	G	39	7.651620	0.98412	.	.	ENSG00000083457	ENST00000263087	.	.	.	5.05	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.383	0.26866	0.2781:0.0:0.7219:0.0	.	.	.	.	X	866	.	ENSP00000263087:Y866X	Y	-	3	2	ITGAE	3584917	0.982000	0.34865	0.996000	0.52242	0.761000	0.43186	0.794000	0.26958	0.275000	0.22094	-0.199000	0.12753	TAC		0.507	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		T	3638168	G	T	3638168	4	4	10	1	0	0	0	0	0	1	0	0	7887	1372	48	4	985	4	ITGAE	17	3638168	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10		3638168	77557042	75	811											
CAMTA2	23125	hgsc.bcm.edu	37	17	4883018	4883018	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr17:4883018G>T	ENST00000348066.3	-	9	1722	c.1599C>A	c.(1597-1599)agC>agA	p.S533R	CAMTA2_ENST00000358183.4_Missense_Mutation_p.S533R|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S535R|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S538R|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S556R|CAMTA2_ENST00000361571.5_Missense_Mutation_p.S532R	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	533					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.S533S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGTGATGGTGCTAAGAGCAG	0.542																																																1	Substitution - coding silent(1)	endometrium(1)											104	107	106					17																	4883018		2203	4300	6503	SO:0001583	missense	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1599C>A	chr17.hg19:g.4883018G>T	ENSP00000321813:p.Ser533Arg		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	hg19	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	8.773	0.926378	0.18056	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.31510	2.71;1.72;1.49;1.72;1.5	4.79	0.537	0.17144	Immunoglobulin-like fold (1);	0.266108	0.34777	N	0.003688	T	0.21103	0.0508	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.27380	0.096;0.177;0.096;0.117;0.001	B;B;B;B;B	0.35655	0.094;0.042;0.131;0.207;0.002	T	0.16276	-1.0408	10	0.25106	T	0.35	-7.7034	4.4993	0.11856	0.3542:0.1555:0.4903:0.0	.	509;556;535;533;532	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	R	556;535;532;533;533	ENSP00000412886:S556R;ENSP00000370712:S535R;ENSP00000354828:S532R;ENSP00000350910:S533R;ENSP00000321813:S533R	ENSP00000321813:S533R	S	-	3	2	CAMTA2	4823742	0.526000	0.26298	0.938000	0.37757	0.972000	0.66771	0.949000	0.29109	0.318000	0.23185	-0.126000	0.14955	AGC		0.542	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		T	4883018	G	T	4883018	3	4	10	1	0	0	0	0	1	0	0	0	2616	1310	46	4	2119	4	CAMTA2	17	4883018	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	1244850	4883018	76312192	76	812											
PER1	5187	hgsc.bcm.edu	37	17	8053954	8053954	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr17:8053954C>A	ENST00000317276.4	-	2	308	c.71G>T	c.(70-72)gGc>gTc	p.G24V	PER1_ENST00000581082.1_Missense_Mutation_p.G24V|PER1_ENST00000354903.5_Intron	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	24	Interaction with BTRC. {ECO:0000269|PubMed:15917222}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGATGGGACGCCCCCAGGACA	0.642			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													49	53	51					17																	8053954		2203	4299	6502	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.71G>T	chr17.hg19:g.8053954C>A	ENSP00000314420:p.Gly24Val		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	hg19	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	9.788	1.177180	0.21787	.	.	ENSG00000179094	ENST00000317276	T	0.13196	2.61	5.38	1.21	0.21127	.	0.547369	0.18544	N	0.138112	T	0.12646	0.0307	L	0.38175	1.15	0.24187	N	0.995562	B;P	0.41366	0.235;0.747	P;B	0.45913	0.497;0.283	T	0.22173	-1.0224	10	0.20519	T	0.43	-3.3931	8.5305	0.33331	0.0:0.6761:0.0:0.3239	.	24;24	Q6IN51;O15534	.;PER1_HUMAN	V	24	ENSP00000314420:G24V	ENSP00000314420:G24V	G	-	2	0	PER1	7994679	0.283000	0.24277	0.131000	0.22000	0.193000	0.23685	0.608000	0.24223	0.025000	0.15241	0.563000	0.77884	GGC		0.642	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8053954	C	A	8053954	3	1	10	1	0	0	0	0	1	0	0	0	11731	739	26	4	3889	4	PER1	17	8053954	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	3170936	8053954	73141256	77	813											
NCOR1	9611	hgsc.bcm.edu	37	17	15952256	15952256	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr17:15952256A>T	ENST00000268712.3	-	41	6696	c.6439T>A	c.(6439-6441)Tac>Aac	p.Y2147N	NCOR1_ENST00000395857.3_Missense_Mutation_p.Y731N|NCOR1_ENST00000395851.1_Missense_Mutation_p.Y2044N	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2147	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGGGCTCGTAGGGCTCCGAA	0.517																																																0													82	74	77					17																	15952256		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6439T>A	chr17.hg19:g.15952256A>T	ENSP00000268712:p.Tyr2147Asn		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758738	0.49468	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.50001	0.76;1.32;0.77	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;1.0;0.999	D;D;D;D;D;D	0.87578	0.998;0.993;0.994;0.989;0.996;0.974	T	0.66006	-0.6030	10	0.72032	D	0.01	-5.9972	14.5928	0.68383	1.0:0.0:0.0:0.0	.	957;2051;2147;2044;667;161	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;.;NCOR1_HUMAN;.;.;.	N	2147;2044;2051;731	ENSP00000268712:Y2147N;ENSP00000379192:Y2044N;ENSP00000379198:Y731N	ENSP00000268712:Y2147N	Y	-	1	0	NCOR1	15892981	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.393000	0.90182	2.117000	0.64856	0.533000	0.62120	TAC		0.517	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		T	15952256	A	T	15952256	3	4	10	1	0	0	0	0	1	0	0	0	10237	420	15	5	907	5	NCOR1	17	15952256	Missense_Mutation	SNP	A	TCGA-2Z-A9JE-01A-11D-A42J-10	7898302	15952256	65242954	78	814											
IFI35	3430	hgsc.bcm.edu	37	17	41166305	41166305	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr17:41166305G>A	ENST00000415816.2	+	7	1073	c.850G>A	c.(850-852)Gag>Aag	p.E284K	IFI35_ENST00000438323.2_Missense_Mutation_p.E286K	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	284				EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CTTCACCTCTGAGTCAGGCTA	0.637																																																0													52	45	48					17																	41166305		2203	4300	6503	SO:0001583	missense	3430			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.850G>A	chr17.hg19:g.41166305G>A	ENSP00000394579:p.Glu284Lys		C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	hg19		.	.	.	.	.	.	.	.	.	.	G	11.04	1.522297	0.27211	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.46063	0.88;0.88	5.8	-0.216	0.13153	.	0.759943	0.12402	N	0.472023	T	0.27134	0.0665	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.18241	-1.0343	10	0.38643	T	0.18	.	8.4304	0.32755	0.454:0.0:0.546:0.0	.	284	P80217	IN35_HUMAN	K	284;286	ENSP00000394579:E284K;ENSP00000395590:E286K	ENSP00000394579:E284K	E	+	1	0	IFI35	38419831	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.264000	0.08658	-0.250000	0.09555	-0.379000	0.06801	GAG		0.637	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		A	41166305	G	A	41166305	3	1	10	1	0	0	0	0	1	0	0	0	7518	1291	45	2	882	2	IFI35	17	41166305	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	25214049	41166305	40028905	79	815											
NFKBID	84807	hgsc.bcm.edu	37	19	36387912	36387912	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr19:36387912G>A	ENST00000396901.1	-	5	628	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S	NFKBID_ENST00000606253.1_Missense_Mutation_p.P19S|NFKBID_ENST00000352614.2_Missense_Mutation_p.P171S|NFKBID_ENST00000585544.1_5'Flank	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	19					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ACCACAGCGGGGAACTGTGGG	0.642																																																0													44	47	46					19																	36387912		1902	4111	6013	SO:0001583	missense	84807			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.55C>T	chr19.hg19:g.36387912G>A	ENSP00000380109:p.Pro19Ser		Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	hg19	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	0.991	-0.693860	0.03303	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.55588	0.51;1.21	4.65	1.2	0.21068	.	1.284560	0.04994	N	0.467779	T	0.36138	0.0956	L	0.29908	0.895	0.09310	N	0.999999	P;B	0.36909	0.573;0.001	B;B	0.33690	0.168;0.001	T	0.17684	-1.0361	10	0.21014	T	0.42	.	4.3062	0.10947	0.0894:0.1562:0.5932:0.1613	.	171;19	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	S	171;19	ENSP00000252985:P171S;ENSP00000380109:P19S	ENSP00000252985:P171S	P	-	1	0	NFKBID	41079752	0.117000	0.22190	0.035000	0.18076	0.055000	0.15305	1.330000	0.33781	0.168000	0.19655	0.491000	0.48974	CCC		0.642	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		A	36387912	G	A	36387912	3	1	10	1	0	0	0	0	1	0	0	0	10381	1232	43	2	918	2	NFKBID	19	36387912	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10		36387912	22741071	80	816											
ZC3H4	23211	hgsc.bcm.edu	37	19	47570155	47570155	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr19:47570155G>T	ENST00000253048.5	-	15	3407	c.3370C>A	c.(3370-3372)Cgc>Agc	p.R1124S	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1124							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCAGCACGCGGGGGTCGTAG	0.746																																																0													8	11	10					19																	47570155		1843	3992	5835	SO:0001583	missense	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3370C>A	chr19.hg19:g.47570155G>T	ENSP00000253048:p.Arg1124Ser		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	hg19	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251319	0.39797	.	.	ENSG00000130749	ENST00000253048	T	0.20598	2.06	5.54	3.28	0.37604	.	0.000000	0.64402	D	0.000001	T	0.41994	0.1183	M	0.63843	1.955	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.35549	-0.9784	10	0.52906	T	0.07	.	13.642	0.62257	0.0:0.0:0.7192:0.2808	.	1124	Q9UPT8	ZC3H4_HUMAN	S	1124	ENSP00000253048:R1124S	ENSP00000253048:R1124S	R	-	1	0	ZC3H4	52261995	0.921000	0.31238	0.330000	0.25442	0.016000	0.09150	1.525000	0.35953	1.302000	0.44855	0.563000	0.77884	CGC		0.746	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			T	47570155	G	T	47570155	3	4	10	1	0	0	0	0	1	0	0	0	17575	1116	39	4	545	4	ZC3H4	19	47570155	Missense_Mutation	SNP	G	TCGA-2Z-A9JE-01A-11D-A42J-10	11182243	47570155	11558828	81	817											
PEG3	5178	hgsc.bcm.edu	37	19	57328814	57328814	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr19:57328814C>A	ENST00000326441.9	-	10	1359	c.996G>T	c.(994-996)agG>agT	p.R332S	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R206S|PEG3_ENST00000598410.1_Missense_Mutation_p.R208S|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R332S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	332					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGCTTGACTCCCTTGCTCTTC	0.493																																																0													76	72	74					19																	57328814		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.996G>T	chr19.hg19:g.57328814C>A	ENSP00000326581:p.Arg332Ser		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558552	0.45590	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02525	4.26;4.26	4.27	1.01	0.19927	.	0.000000	0.50627	D	0.000103	T	0.05686	0.0149	L	0.36672	1.1	.	.	.	D;D;D	0.76494	0.999;0.999;0.988	D;D;P	0.71184	0.972;0.972;0.815	T	0.39623	-0.9605	9	0.21014	T	0.42	-34.9522	6.1823	0.20478	0.0:0.6841:0.0:0.3159	.	208;332;267	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	332;332;302	ENSP00000326581:R332S;ENSP00000403051:R332S	ENSP00000292074:R302S	R	-	3	2	ZIM2	62020626	0.000000	0.05858	0.145000	0.22337	0.716000	0.41182	-0.873000	0.04214	0.335000	0.23614	0.561000	0.74099	AGG		0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			A	57328814	C	A	57328814	3	1	10	1	0	0	0	0	1	0	0	0	11722	622	22	4	3774	4	PEG3	19	57328814	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	9758659	57328814	1800169	82	818											
ZNF776	284309	hgsc.bcm.edu	37	19	58265364	58265364	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr19:58265364A>G	ENST00000317178.5	+	3	1129	c.866A>G	c.(865-867)gAa>gGa	p.E289G		NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		CACACTGGAGAAAGACCTTAT	0.423																																																0													93	83	86					19																	58265364		2203	4300	6503	SO:0001583	missense	284309			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.866A>G	chr19.hg19:g.58265364A>G	ENSP00000321812:p.Glu289Gly		Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	hg19	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660779	0.88154	.	.	ENSG00000152443	ENST00000317178	T	0.27557	1.66	1.92	0.722	0.18225	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47525	0.1450	M	0.71581	2.175	0.80722	D	1	B;D	0.89917	0.349;1.0	B;D	0.91635	0.127;0.999	T	0.39396	-0.9616	9	0.87932	D	0	.	5.8253	0.18550	0.7628:0.0:0.0:0.2372	.	289;289	Q68DI1;B4DSC6	ZN776_HUMAN;.	G	289	ENSP00000321812:E289G	ENSP00000321812:E289G	E	+	2	0	ZNF776	62957176	0.110000	0.22057	0.524000	0.27887	0.982000	0.71751	1.099000	0.31013	-0.012000	0.14223	0.254000	0.18369	GAA		0.423	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		G	58265364	A	G	58265364	3	3	10	1	0	0	0	0	1	0	0	0	18154	246	9	3	876	3	ZNF776	19	58265364	Missense_Mutation	SNP	A	TCGA-2Z-A9JE-01A-11D-A42J-10	936550	58265364	863619	83	819											
ZNF217	7764	hgsc.bcm.edu	37	20	52194908	52194908	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr20:52194908T>C	ENST00000371471.2	-	3	1873	c.1448A>G	c.(1447-1449)aAt>aGt	p.N483S	ZNF217_ENST00000302342.3_Missense_Mutation_p.N483S			O75362	ZN217_HUMAN	zinc finger protein 217	483					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGGTAATAATTTGAACGGAA	0.259																																																0													79	78	78					20																	52194908		2201	4294	6495	SO:0001583	missense	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1448A>G	chr20.hg19:g.52194908T>C	ENSP00000360526:p.Asn483Ser		E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	hg19	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016204	0.54468	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.07216	3.21;3.21	5.0	3.83	0.44106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.056391	0.64402	D	0.000002	T	0.18299	0.0439	M	0.66939	2.045	0.42547	D	0.993093	D	0.62365	0.991	P	0.57101	0.813	T	0.02519	-1.1147	10	0.25751	T	0.34	-48.1811	11.2946	0.49272	0.1361:0.0:0.0:0.8639	.	483	O75362	ZN217_HUMAN	S	483	ENSP00000360526:N483S;ENSP00000304308:N483S	ENSP00000304308:N483S	N	-	2	0	ZNF217	51628315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.445000	0.52921	2.010000	0.58986	0.533000	0.62120	AAT		0.259	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		C	52194908	T	C	52194908	3	2	10	1	0	0	0	0	1	0	0	0	17777	1493	52	3	1710	3	ZNF217	20	52194908	Missense_Mutation	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10		52194908	10830612	84	820											
USP25	29761	hgsc.bcm.edu	37	21	17135271	17135271	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr21:17135271T>A	ENST00000285679.6	+	2	476	c.107T>A	c.(106-108)cTa>cAa	p.L36Q	USP25_ENST00000351097.5_Missense_Mutation_p.L36Q|USP25_ENST00000400183.2_Missense_Mutation_p.L36Q|USP25_ENST00000285681.2_Missense_Mutation_p.L36Q	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	36	UBA-like.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ACCCAGATACTACAGCAAGCC	0.363																																																0													139	140	140					21																	17135271		2203	4300	6503	SO:0001583	missense	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.107T>A	chr21.hg19:g.17135271T>A	ENSP00000285679:p.Leu36Gln		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	hg19	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460251	0.84317	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.56776	0.89;0.93;0.44;0.95	5.33	5.33	0.75918	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	L	0.55990	1.75	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;D;D	0.97110	0.999;0.995;1.0;0.997	T	0.71768	-0.4493	10	0.87932	D	0	.	15.3004	0.73945	0.0:0.0:0.0:1.0	.	36;36;36;36	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	Q	36	ENSP00000285681:L36Q;ENSP00000285679:L36Q;ENSP00000299574:L36Q;ENSP00000383044:L36Q	ENSP00000285679:L36Q	L	+	2	0	USP25	16057142	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	7.673000	0.83973	2.024000	0.59613	0.459000	0.35465	CTA		0.363	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			A	17135271	T	A	17135271	3	1	10	1	0	0	0	0	1	0	0	0	17061	1522	53	5	113	5	USP25	21	17135271	Missense_Mutation	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10		17135271	30994624	85	821											
BACH1	571	hgsc.bcm.edu	37	21	30699093	30699114	+	Frame_Shift_Del	DEL	CCCTCATGGACTTTATTCTTTG	CCCTCATGGACTTTATTCTTTG	-			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	CCCTCATGGACTTTATTCTTTG	CCCTCATGGACTTTATTCTTTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr21:30699093_30699114delCCCTCATGGACTTTATTCTTTG	ENST00000399921.1	+	3	1191_1212	c.948_969delCCCTCATGGACTTTATTCTTTG	c.(946-969)gaccctcatggactttattctttgfs	p.DPHGLYSL316fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.DPHGLYSL316fs	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CTTCCATAGACCCTCATGGACTTTATTCTTTGTCTCTTTTAC	0.405																																																0																																										SO:0001589	frameshift_variant	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.948_969delCCCTCATGGACTTTATTCTTTG	chr21.hg19:g.30699093_30699114delCCCTCATGGACTTTATTCTTTG	ENSP00000382805:p.Asp316fs		Q3MJE2|Q8NCI5	Frame_Shift_Del	DEL	ENST00000399921.1	hg19	CCDS13585.1																																																																																				0.405	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		-	30699114	CCCTCATGGACTTTATTCTTTG	-	30699093	7	5	10	1	0	1	0	1	0	0	0	0	1283	506	18	0	954	0	BACH1	21	30699093	Frame_Shift_Del	DEL	CCCTCATGGACTTTATTCTTTG	TCGA-2Z-A9JE-01A-11D-A42J-10	13563822	30699093	17430802	86	822											
CLIC6	54102	hgsc.bcm.edu	37	21	36042470	36042470	+	Silent	SNP	A	A	G	rs557556798|rs62213790	byFrequency	TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr21:36042470A>G	ENST00000360731.3	+	1	783	c.783A>G	c.(781-783)gaA>gaG	p.E261E	CLIC6_ENST00000349499.2_Silent_p.E261E			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	261	13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						ACGGCGTAGAAGCGGGGGTCC	0.761																																																0													1	2	2					21																	36042470		755	1897	2652	SO:0001819	synonymous_variant	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.783A>G	chr21.hg19:g.36042470A>G			A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	hg19																																																																																					0.761	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			G	36042470	A	G	36042470	2	3	10	1	0	0	0	0	0	0	0	1	3532	69	3	3		3	CLIC6	21	36042470	Silent	SNP	A	TCGA-2Z-A9JE-01A-11D-A42J-10	5343377	36042470	12087425	87	823											
KRTAP10-8	386681	hgsc.bcm.edu	37	21	46032738	46032738	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chr21:46032738C>T	ENST00000334662.2	+	1	743	c.721C>T	c.(721-723)Cac>Tac	p.H241Y	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	241	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						cagctgctgccacccggcctc	0.711																																																0													37	45	42					21																	46032738		2203	4298	6501	SO:0001583	missense	386681			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"Keratin associated proteins"	20525	protein-coding gene	gene with protein product			"keratin associated protein 18-8"	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.721C>T	chr21.hg19:g.46032738C>T	ENSP00000335565:p.His241Tyr		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	hg19	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	c	3.898	-0.022702	0.07634	.	.	ENSG00000187766	ENST00000334662	T	0.00717	5.79	3.24	-3.04	0.05412	.	.	.	.	.	T	0.00608	0.0020	N	0.14661	0.345	0.09310	N	1	B	0.25521	0.128	B	0.29663	0.105	T	0.45101	-0.9284	9	0.56958	D	0.05	.	5.7146	0.17952	0.0:0.4714:0.1368:0.3918	.	241	P60410	KR108_HUMAN	Y	241	ENSP00000335565:H241Y	ENSP00000335565:H241Y	H	+	1	0	KRTAP10-8	44857166	0.000000	0.05858	0.374000	0.26016	0.007000	0.05969	-3.222000	0.00551	-0.687000	0.05162	-1.250000	0.01514	CAC		0.711	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		T	46032738	C	T	46032738	3	4	10	1	0	0	0	0	1	0	0	0	8517	594	21	2	723	2	KRTAP10-8	21	46032738	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	9990268	46032738	2097157	88	824											
FANCB	2187	hgsc.bcm.edu	37	X	14863248	14863248	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chrX:14863248T>G	ENST00000324138.3	-	7	1810	c.1657A>C	c.(1657-1659)Acg>Ccg	p.T553P	FANCB_ENST00000398334.1_Missense_Mutation_p.T553P	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	553					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GGGGTCAACGTGACCCTTTTT	0.403								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													101	90	93					X																	14863248		2203	4300	6503	SO:0001583	missense	2187	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1657A>C	chrX.hg19:g.14863248T>G	ENSP00000326819:p.Thr553Pro		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	hg19	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	T	7.265	0.606039	0.14002	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.36	4.17	0.49024	.	0.080592	0.52532	D	0.000066	T	0.24084	0.0583	N	0.08118	0	0.09310	N	0.999997	B	0.10296	0.003	B	0.06405	0.002	T	0.20605	-1.0270	9	0.72032	D	0.01	-5.8518	11.0343	0.47791	0.0:0.0:0.1533:0.8467	.	553	Q8NB91	FANCB_HUMAN	P	553	.	ENSP00000326819:T553P	T	-	1	0	FANCB	14773169	1.000000	0.71417	0.224000	0.23877	0.027000	0.11550	3.643000	0.54374	0.657000	0.30906	0.425000	0.28330	ACG		0.403	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		G	14863248	T	G	14863248	3	3	10	1	0	0	0	0	1	0	0	0	5665	1696	59	5	934	5	FANCB	23	14863248	Missense_Mutation	SNP	T	TCGA-2Z-A9JE-01A-11D-A42J-10		14863248	140407312	89	825											
LPAR4	2846	hgsc.bcm.edu	37	X	78010830	78010830	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JE-01A-11D-A42J-10	TCGA-2Z-A9JE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fa7ded84-a75d-4ee6-b8c4-cb4858ba6c62	0ce30bd0-7241-4ecb-aa30-df5138e4b738	g.chrX:78010830C>G	ENST00000435339.3	+	2	850	c.464C>G	c.(463-465)tCt>tGt	p.S155C		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	155					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						AGGAGGAATTCTGCCATTGTG	0.468																																																0													191	127	149					X																	78010830		2203	4300	6503	SO:0001583	missense	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.464C>G	chrX.hg19:g.78010830C>G	ENSP00000408205:p.Ser155Cys		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	hg19	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317040	0.60524	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.35789	1.29;1.29	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.149396	0.45867	D	0.000329	T	0.48259	0.1490	L	0.38733	1.17	0.52501	D	0.99995	D	0.69078	0.997	D	0.69142	0.962	T	0.50398	-0.8833	10	0.59425	D	0.04	.	14.3969	0.67018	0.0:1.0:0.0:0.0	.	155	Q99677	LPAR4_HUMAN	C	155	ENSP00000408205:S155C;ENSP00000362398:S155C	ENSP00000362398:S155C	S	+	2	0	LPAR4	77897486	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.233000	0.78125	1.943000	0.56356	0.422000	0.28245	TCT		0.468	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		G	78010830	C	G	78010830	3	3	10	1	0	0	0	0	1	0	0	0	8909	913	32	4	466	4	LPAR4	23	78010830	Missense_Mutation	SNP	C	TCGA-2Z-A9JE-01A-11D-A42J-10	63147582	78010830	77259730	90	826											
TAS1R3	83756	hgsc.bcm.edu	37	1	1267767	1267767	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr1:1267767T>C	ENST00000339381.5	+	3	888	c.856T>C	c.(856-858)Tac>Cac	p.Y286H		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	286					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CCTCTTCAACTACAGCATCAG	0.672																																																0													25	21	22					1																	1267767		2187	4285	6472	SO:0001583	missense	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.856T>C	chr1.hg19:g.1267767T>C	ENSP00000344411:p.Tyr286His		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	hg19	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	T	0.130	-1.114776	0.01799	.	.	ENSG00000169962	ENST00000339381	D	0.82619	-1.63	4.6	-1.77	0.07982	Extracellular ligand-binding receptor (1);	0.501897	0.20842	N	0.084691	T	0.64438	0.2598	N	0.13235	0.315	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.53641	-0.8410	10	0.48119	T	0.1	.	7.3836	0.26870	0.1219:0.4662:0.0:0.4119	.	286	Q7RTX0	TS1R3_HUMAN	H	286	ENSP00000344411:Y286H	ENSP00000344411:Y286H	Y	+	1	0	TAS1R3	1257630	0.000000	0.05858	0.018000	0.16275	0.007000	0.05969	-2.021000	0.01440	-0.213000	0.10094	-0.411000	0.06167	TAC		0.672	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			C	1267767	T	C	1267767	3	2	11	1	0	0	0	0	1	0	0	0	15569	1522	53	3	866	3	TAS1R3	1	1267767	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10		1267767	247982854	1	827											
LEPR	3953	hgsc.bcm.edu	37	1	66088612	66088612	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr1:66088612A>G	ENST00000349533.6	+	19	2806	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	LEPR_ENST00000344610.8_Missense_Mutation_p.D874G|LEPR_ENST00000371060.3_Missense_Mutation_p.D874G|LEPR_ENST00000371059.3_Missense_Mutation_p.D874G|LEPR_ENST00000371058.1_Missense_Mutation_p.D874G|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTTTGGGAAGATGTTCCGAAC	0.338																																																0													96	97	96					1																	66088612		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2621A>G	chr1.hg19:g.66088612A>G	ENSP00000330393:p.Asp874Gly		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	hg19	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971394	0.74246	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.71817	-0.31;-0.28;-0.29;-0.6;-0.31	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	M	0.72479	2.2	0.80722	D	1	P;P;D	0.89917	0.864;0.917;1.0	B;P;D	0.97110	0.416;0.62;1.0	T	0.82283	-0.0534	10	0.62326	D	0.03	-22.0107	15.1416	0.72615	1.0:0.0:0.0:0.0	.	874;874;874	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	G	874	ENSP00000340884:D874G;ENSP00000330393:D874G;ENSP00000360099:D874G;ENSP00000360098:D874G;ENSP00000360097:D874G	ENSP00000340884:D874G	D	+	2	0	LEPR	65861200	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.605000	0.74155	2.019000	0.59389	0.528000	0.53228	GAT		0.338	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		G	66088612	A	G	66088612	3	3	11	1	0	0	0	0	1	0	0	0	8730	333	12	3	2687	3	LEPR	1	66088612	Missense_Mutation	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10	64820845	66088612	183162009	2	828											
PRCC	5546	hgsc.bcm.edu	37	1	156767106	156767106	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr1:156767106A>C	ENST00000271526.4	+	6	1634	c.1362A>C	c.(1360-1362)aaA>aaC	p.K454N	PRCC_ENST00000353233.3_Missense_Mutation_p.K422N	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	454					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCGGCGGAAACACCAGATCA	0.473			T	TFE3	papillary renal						OREG0013886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		1	1q21.1	5546	papillary renal cell carcinoma (translocation-associated)		E	0													85	92	90					1																	156767106		2203	4300	6503	SO:0001583	missense	5546			X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1362A>C	chr1.hg19:g.156767106A>C	ENSP00000271526:p.Lys454Asn	1781	A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	hg19	CCDS1157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.33|18.33	3.599257|3.599257	0.66332|0.66332	.|.	.|.	ENSG00000143294|ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188|ENST00000454659	T;T|.	0.69306|.	-0.39;-0.27|.	5.43|5.43	3.09|3.09	0.35607|0.35607	Mitotic checkpoint protein PRCC, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53546|0.53546	0.1803|0.1803	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.54702|0.54702	-0.8254|-0.8254	10|5	0.87932|.	D|.	0|.	-12.1328|-12.1328	7.4238|7.4238	0.27088|0.27088	0.7463:0.0:0.2537:0.0|0.7463:0.0:0.2537:0.0	.|.	422;454|.	A6NG79;Q92733|.	.;PRCC_HUMAN|.	N|T	454;422;430;161|220	ENSP00000271526:K454N;ENSP00000339300:K422N|.	ENSP00000271526:K454N|.	K|N	+|+	3|2	2|0	PRCC|PRCC	155033730|155033730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.177000|1.177000	0.31969|0.31969	0.493000|0.493000	0.27837|0.27837	-0.261000|-0.261000	0.10672|0.10672	AAA|AAC		0.473	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		C	156767106	A	C	156767106	3	2	11	1	0	0	0	0	1	0	0	0	12452	40	2	5	1384	5	PRCC	1	156767106	Missense_Mutation	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10	90678494	156767106	92483515	3	829											
SOAT1	6646	hgsc.bcm.edu	37	1	179310206	179310206	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr1:179310206T>G	ENST00000367619.3	+	7	684	c.541T>G	c.(541-543)Ttt>Gtt	p.F181V	SOAT1_ENST00000539888.1_Missense_Mutation_p.F116V|SOAT1_ENST00000540564.1_Missense_Mutation_p.F123V|SOAT1_ENST00000535686.1_De_novo_Start_InFrame	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	181					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTTTGGCAAATTTCCTACCGT	0.423																																																0													144	134	137					1																	179310206		2203	4300	6503	SO:0001583	missense	6646			L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.541T>G	chr1.hg19:g.179310206T>G	ENSP00000356591:p.Phe181Val		A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	hg19	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527498	0.44969	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.96	-2.2	0.06994	.	0.382132	0.35013	N	0.003507	T	0.19846	0.0477	M	0.61703	1.905	0.80722	D	1	B;B	0.25850	0.006;0.136	B;B	0.35312	0.026;0.2	T	0.06826	-1.0805	10	0.52906	T	0.07	-32.5711	11.9488	0.52944	0.0:0.2527:0.0:0.7473	.	123;181	A8K3P4;P35610	.;SOAT1_HUMAN	V	116;123;181;181	ENSP00000441356:F116V;ENSP00000445315:F123V;ENSP00000356591:F181V;ENSP00000411309:F181V	ENSP00000356591:F181V	F	+	1	0	SOAT1	177576829	0.994000	0.37717	0.005000	0.12908	0.977000	0.68977	0.305000	0.19254	-0.663000	0.05331	-0.290000	0.09829	TTT		0.423	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		G	179310206	T	G	179310206	3	3	11	1	0	0	0	0	1	0	0	0	14916	1493	52	5	563	5	SOAT1	1	179310206	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	22543100	179310206	69940415	4	830											
SMG7	9887	hgsc.bcm.edu	37	1	183495889	183495889	+	Silent	SNP	C	C	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr1:183495889C>T	ENST00000347615.2	+	5	590	c.471C>T	c.(469-471)caC>caT	p.H157H	SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000507469.1_Silent_p.H157H|SMG7_ENST00000515829.2_Silent_p.H157H|SMG7_ENST00000367537.3_Silent_p.H186H|SMG7_ENST00000456731.2_Silent_p.H115H|SMG7_ENST00000508461.1_Silent_p.H115H	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	157					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCCTCGTCCACCTTGGAGACA	0.443																																																0													208	179	189					1																	183495889		2203	4300	6503	SO:0001819	synonymous_variant	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.471C>T	chr1.hg19:g.183495889C>T			B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	hg19	CCDS1355.1																																																																																				0.443	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		T	183495889	C	T	183495889	2	4	11	1	0	0	0	0	0	0	0	1	14804	506	18	2		2	SMG7	1	183495889	Silent	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10	4185683	183495889	65754732	5	831											
TPR	7175	hgsc.bcm.edu	37	1	186289494	186289494	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr1:186289494delG	ENST00000367478.4	-	46	6814	c.6518delC	c.(6517-6519)ccafs	p.P2173fs		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2173					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACTTGTTTGTGGCATATCTTC	0.398			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	0													87	82	84					1																	186289494		1872	4103	5975	SO:0001589	frameshift_variant	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6518delC	chr1.hg19:g.186289494delG	ENSP00000356448:p.Pro2173fs		Q15655|Q5SWY0|Q99968	Frame_Shift_Del	DEL	ENST00000367478.4	hg19	CCDS41446.1																																																																																				0.398	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		-	186289494	G	-	186289494	7	5	11	1	0	1	0	1	0	0	0	0	16421	1348	47	0	597	0	TPR	1	186289494	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JG-01A-11D-A42J-10	2793605	186289494	62961127	6	832											
IRF2BP2	359948	hgsc.bcm.edu	37	1	234743069	234743069	+	Silent	SNP	C	C	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr1:234743069C>G	ENST00000366609.3	-	2	1608	c.1578G>C	c.(1576-1578)tcG>tcC	p.S526S	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Silent_p.S510S|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	526	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			AGAACTTGTGCGAAGGGACGG	0.592																																																0													79	84	83					1																	234743069		2203	4300	6503	SO:0001819	synonymous_variant	359948			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1578G>C	chr1.hg19:g.234743069C>G			B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	hg19	CCDS1602.1																																																																																				0.592	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		G	234743069	C	G	234743069	2	3	11	1	0	0	0	0	0	0	0	1	7832	755	27	4		4	IRF2BP2	1	234743069	Silent	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10	48453575	234743069	14507552	7	833											
PPPDE1	51029	hgsc.bcm.edu	37	1	244849928	244849928	+	Silent	SNP	T	T	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr1:244849928T>A	ENST00000302550.11	+	2	451	c.72T>A	c.(70-72)atT>atA	p.I24I	DESI2_ENST00000263831.7_Silent_p.I24I	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	24	PPPDE peptidase.					cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										CCTCATCCATTGGAATTGGAG	0.358																																																0													130	130	130					1																	244849928		2203	4300	6503	SO:0001819	synonymous_variant	51029			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"chromosome 1 open reading frame 121", "family with sequence similarity 152, member A", "PPPDE peptidase domain containing 1"	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.72T>A	chr1.hg19:g.244849928T>A			B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Silent	SNP	ENST00000302550.11	hg19	CCDS1626.1																																																																																				0.358	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097168.1	NM_016076		A	244849928	T	A	244849928	2	1	11	1	0	0	0	0	0	0	0	1	12413	1800	63	5		5	PPPDE1	1	244849928	Silent	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	10106859	244849928	4400693	8	834											
AHCTF1	25909	hgsc.bcm.edu	37	1	247081550	247081560	+	Splice_Site	DEL	TTATGTTTACC	TTATGTTTACC	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	TTATGTTTACC	TTATGTTTACC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr1:247081550_247081560delTTATGTTTACC	ENST00000391829.2	-	2	236_245	c.113_122delGGTAAACATAA	c.(112-123)tggtaaacataa>ta	p.W*T*38fs	AHCTF1_ENST00000366508.1_Splice_Site_p.W*T*73fs|AHCTF1_ENST00000326225.3_Splice_Site_p.W*T*47fs			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	38	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CATTATGTTTACCTGCAGCAAACTTTCCACG	0.346																																					Colon(145;197 1800 4745 15099 26333)											0																																										SO:0001630	splice_region_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.121+1GGTAAACATAA>-	chr1.hg19:g.247081550_247081560delTTATGTTTACC			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Splice_Site	DEL	ENST00000391829.2	hg19																																																																																					0.346	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	Frame_Shift_Del	-	247081560	TTATGTTTACC	-	247081550	8	5	11	1	0	1	0	1	0	0	1	0	408	405	14	0	6817	0	AHCTF1	1	247081550	Splice_Site	DEL	TTATGTTTACC	TCGA-2Z-A9JG-01A-11D-A42J-10	2231622	247081550	2169071	9	835											
CAD	790	hgsc.bcm.edu	37	2	27456276	27456276	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr2:27456276C>A	ENST00000403525.1	+	19	3043	c.2899C>A	c.(2899-2901)Cag>Aag	p.Q967K	CAD_ENST00000264705.4_Missense_Mutation_p.Q1030K			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGCATCGGCAGCAGTGCCG	0.572																																																0													56	55	55					2																	27456276		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2899C>A	chr2.hg19:g.27456276C>A	ENSP00000384510:p.Gln967Lys		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	hg19		.	.	.	.	.	.	.	.	.	.	C	29.1	4.976973	0.92982	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97232	-4.3;-4.3	5.62	5.62	0.85841	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	L	0.41632	1.29	0.80722	D	1	D;D	0.69078	0.968;0.997	P;P	0.62885	0.808;0.908	D	0.97473	1.0042	10	0.54805	T	0.06	-0.5919	18.5877	0.91196	0.0:1.0:0.0:0.0	.	967;1030	F8VPD4;P27708	.;PYR1_HUMAN	K	1030;967	ENSP00000264705:Q1030K;ENSP00000384510:Q967K	ENSP00000264705:Q1030K	Q	+	1	0	CAD	27309780	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.375000	0.59549	2.804000	0.96469	0.655000	0.94253	CAG		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			A	27456276	C	A	27456276	3	1	11	1	0	0	0	0	1	0	0	0	2567	711	25	4	3166	4	CAD	2	27456276	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10		27456276	215743097	10	836											
POLR1A	25885	hgsc.bcm.edu	37	2	86272888	86272888	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr2:86272888G>A	ENST00000263857.6	-	20	3116	c.2738C>T	c.(2737-2739)tCg>tTg	p.S913L	POLR1A_ENST00000409681.1_Missense_Mutation_p.S913L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	913					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAGCAGGCACGAGATCTGGAG	0.522																																																0													44	48	47					2																	86272888		1910	4133	6043	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2738C>T	chr2.hg19:g.86272888G>A	ENSP00000263857:p.Ser913Leu		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	hg19	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658584	0.88154	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.76709	-1.04;-1.04	5.95	5.95	0.96441	RNA polymerase Rpb1, domain 4 (1);	0.129604	0.53938	D	0.000043	D	0.90383	0.6990	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.91550	0.5256	10	0.87932	D	0	-16.9868	18.5659	0.91116	0.0:0.0:1.0:0.0	.	913	O95602	RPA1_HUMAN	L	913	ENSP00000263857:S913L;ENSP00000386300:S913L	ENSP00000263857:S913L	S	-	2	0	POLR1A	86126399	1.000000	0.71417	0.956000	0.39512	0.960000	0.62799	9.038000	0.93771	2.825000	0.97269	0.655000	0.94253	TCG		0.522	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		A	86272888	G	A	86272888	3	1	11	1	0	0	0	0	1	0	0	0	12211	1059	37	1	2484	1	POLR1A	2	86272888	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	58816612	86272888	156926485	11	837											
PAX8	7849	hgsc.bcm.edu	37	2	114000281	114000281	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr2:114000281G>T	ENST00000429538.3	-	5	658	c.464C>A	c.(463-465)cCc>cAc	p.P155H	AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P155H|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.P155H|AC016683.6_ENST00000437551.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.P155H|PAX8_ENST00000348715.5_Missense_Mutation_p.P155H|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|RP11-65I12.1_ENST00000553319.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	155					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CGTGTGTCCGGGACTCAGGGA	0.537			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	0													156	159	158					2																	114000281		2151	4261	6412	SO:0001583	missense	7849			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.464C>A	chr2.hg19:g.114000281G>T	ENSP00000395498:p.Pro155His		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	hg19	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	g	25.0	4.591911	0.86953	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.97959	-4.62;-4.63;-4.41;-3.99;-4.41	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	L	0.60455	1.87	0.80722	D	1	D;D;D;B;D	0.89917	1.0;0.994;1.0;0.01;0.986	D;D;D;B;P	0.85130	0.996;0.927;0.997;0.039;0.808	D	0.99094	1.0841	10	0.59425	D	0.04	.	16.774	0.85546	0.0:0.0:1.0:0.0	.	155;155;155;155;155	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	H	155	ENSP00000263335:P155H;ENSP00000380768:P155H;ENSP00000314750:P155H;ENSP00000395498:P155H;ENSP00000263334:P155H	ENSP00000263334:P155H	P	-	2	0	PAX8	113716751	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.038000	0.88943	2.550000	0.86006	0.552000	0.68991	CCC		0.537	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			T	114000281	G	T	114000281	3	4	11	1	0	0	0	0	1	0	0	0	11487	1232	43	4	795	4	PAX8	2	114000281	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	27727393	114000281	129199092	12	838											
HOXD1	3231	hgsc.bcm.edu	37	2	177054137	177054137	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr2:177054137G>T	ENST00000331462.4	+	1	831	c.608G>T	c.(607-609)aGc>aTc	p.S203I	HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000425005.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	203					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GCCGCCTTCAGCACGTTCGAG	0.662																																																0													26	30	28					2																	177054137		2160	4210	6370	SO:0001583	missense	3231				CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"Homeoboxes / ANTP class : HOXL subclass"	5132	protein-coding gene	gene with protein product		142987	"homeo box D1"	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.608G>T	chr2.hg19:g.177054137G>T	ENSP00000328598:p.Ser203Ile		B2RAB4	Missense_Mutation	SNP	ENST00000331462.4	hg19	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448129	0.84101	.	.	ENSG00000128645	ENST00000331462;ENST00000375170	D	0.90844	-2.74	5.43	5.43	0.79202	.	0.000000	0.53938	D	0.000044	D	0.93628	0.7965	L	0.56769	1.78	0.41132	D	0.985896	D;D;D	0.76494	0.99;0.999;0.993	P;D;P	0.71656	0.802;0.974;0.806	D	0.92749	0.6214	10	0.36615	T	0.2	.	15.5055	0.75735	0.0:0.1387:0.8613:0.0	.	203;142;203	Q96CA4;Q8IZ25;Q9GZZ0	.;.;HXD1_HUMAN	I	203;142	ENSP00000328598:S203I	ENSP00000328598:S203I	S	+	2	0	HOXD1	176762383	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.488000	0.45276	2.532000	0.85374	0.561000	0.74099	AGC		0.662	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2			T	177054137	G	T	177054137	3	4	11	1	0	0	0	0	1	0	0	0	7320	971	34	4	610	4	HOXD1	2	177054137	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	63053856	177054137	66145236	13	839											
CAPN7	23473	hgsc.bcm.edu	37	3	15287046	15287046	+	Silent	SNP	A	A	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr3:15287046A>G	ENST00000253693.2	+	17	2131	c.1878A>G	c.(1876-1878)ccA>ccG	p.P626P		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	626	Domain III.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						ACCCACCTCCATACATTGATG	0.368																																																0													141	140	140					3																	15287046		2203	4300	6503	SO:0001819	synonymous_variant	23473			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1878A>G	chr3.hg19:g.15287046A>G				Silent	SNP	ENST00000253693.2	hg19	CCDS2624.1																																																																																				0.368	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		G	15287046	A	G	15287046	2	3	11	1	0	0	0	0	0	0	0	1	2633	204	8	3		3	CAPN7	3	15287046	Silent	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10		15287046	182735384	14	840											
DNAH1	25981	hgsc.bcm.edu	37	3	52392687	52392687	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr3:52392687delG	ENST00000420323.2	+	25	4461	c.4200delG	c.(4198-4200)gagfs	p.E1400fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1400	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCTGCGGGAGGTGGAGCGCA	0.632																																																0													50	58	55					3																	52392687		2169	4259	6428	SO:0001589	frameshift_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4200delG	chr3.hg19:g.52392687delG	ENSP00000401514:p.Glu1400fs		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Del	DEL	ENST00000420323.2	hg19	CCDS46842.1																																																																																				0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		-	52392687	G	-	52392687	7	5	11	1	0	1	0	1	0	0	0	0	4599	991	35	0	4294	0	DNAH1	3	52392687	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JG-01A-11D-A42J-10	37105641	52392687	145629743	15	841											
TMPRSS7	344805	hgsc.bcm.edu	37	3	111799843	111799844	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr3:111799843_111799844delGA	ENST00000452346.2	+	18	2447_2448	c.2444_2445delGA	c.(2443-2445)ggafs	p.G815fs	TMPRSS7_ENST00000419127.1_Frame_Shift_Del_p.G689fs			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	815	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGGGACATGGAAGTGGACGAC	0.411																																																0																																										SO:0001589	frameshift_variant	344805			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2444_2445delGA	chr3.hg19:g.111799843_111799844delGA	ENSP00000398236:p.Gly815fs		C9J8P7|E9PAS3|Q17RH4	Frame_Shift_Del	DEL	ENST00000452346.2	hg19																																																																																					0.411	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		-	111799844	GA	-	111799843	7	5	11	1	0	1	0	1	0	0	0	0	16257	1174	41	0	2124	0	TMPRSS7	3	111799843	Frame_Shift_Del	DEL	GA	TCGA-2Z-A9JG-01A-11D-A42J-10	59407156	111799843	86222587	16	842											
LIAS	11019	hgsc.bcm.edu	37	4	39465225	39465225	+	Splice_Site	DEL	G	G	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr4:39465225delG	ENST00000261434.3	+	4	511	c.393delG	c.(391-393)atg>at	p.M131fs	LIAS_ENST00000381846.1_Splice_Site_p.M131fs|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Splice_Site_p.M131fs|LIAS_ENST00000513731.1_Intron	NM_006859.2	NP_006850.2			lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						CCACGATCATGGTAGGGCCAG	0.463																																																0													70	65	67					4																	39465225		2203	4300	6503	SO:0001630	splice_region_variant	11019			AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000261434.3:c.393+1G>-	chr4.hg19:g.39465225delG				Frame_Shift_Del	DEL	ENST00000261434.3	hg19	CCDS3453.1																																																																																				0.463	LIAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216815.1	NM_194451	Frame_Shift_Del	-	39465225	G	-	39465225	8	5	11	1	0	1	0	1	0	0	1	0	8780	1362	47	0	407	0	LIAS	4	39465225	Splice_Site	DEL	G	TCGA-2Z-A9JG-01A-11D-A42J-10		39465225	151689051	17	843											
UBE2K	3093	hgsc.bcm.edu	37	4	39779353	39779353	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr4:39779353G>A	ENST00000261427.5	+	6	735	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	UBE2K_ENST00000295963.6_Missense_Mutation_p.V90M|UBE2K_ENST00000445950.2_Intron|UBE2K_ENST00000503368.1_Missense_Mutation_p.V100M|UBE2K_ENST00000438068.2_3'UTR	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	151					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						TTGGGCACATGTGTATGCTGG	0.378																																					NSCLC(101;689 1592 16105 29682 31745)											0													106	110	108					4																	39779353		2203	4300	6503	SO:0001583	missense	3093			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"Ubiquitin-conjugating enzymes E2"	4914	protein-coding gene	gene with protein product		602846	"huntingtin interacting protein 2", "ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.451G>A	chr4.hg19:g.39779353G>A	ENSP00000261427:p.Val151Met		A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Missense_Mutation	SNP	ENST00000261427.5	hg19	CCDS33976.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246872	0.59103	.	.	ENSG00000078140	ENST00000261427;ENST00000295963;ENST00000510934;ENST00000503368	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.55	5.55	0.83447	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	L	0.28274	0.84	0.52501	D	0.999954	B;P;B	0.50156	0.008;0.932;0.24	B;B;P	0.45712	0.003;0.327;0.491	T	0.64262	-0.6449	10	0.33940	T	0.23	-15.8268	19.8764	0.96873	0.0:0.0:1.0:0.0	.	90;151;100	B4DIZ2;P61086;P61086-2	.;UBE2K_HUMAN;.	M	151;90;90;100	ENSP00000261427:V151M;ENSP00000295963:V90M;ENSP00000425301:V90M;ENSP00000421203:V100M	ENSP00000261427:V151M	V	+	1	0	UBE2K	39455748	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	4.143000	0.58051	2.768000	0.95171	0.655000	0.94253	GTG		0.378	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1	NM_005339		A	39779353	G	A	39779353	3	1	11	1	0	0	0	0	1	0	0	0	16867	1377	48	2	473	2	UBE2K	4	39779353	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	314128	39779353	151374923	18	844											
EPHA5	2044	hgsc.bcm.edu	37	4	66535302	66535302	+	Silent	SNP	G	G	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr4:66535302G>T	ENST00000273854.3	-	1	759	c.159C>A	c.(157-159)ctC>ctA	p.L53L	RP11-807H7.1_ENST00000509473.1_lincRNA|EPHA5_ENST00000511294.1_Silent_p.L53L|EPHA5_ENST00000432638.2_Silent_p.L53L|EPHA5_ENST00000354839.4_Silent_p.L53L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	53					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGCTGGCCAGGAGGGTCCGGA	0.711										TSP Lung(17;0.13)																																						0													13	16	15					4																	66535302		2176	4272	6448	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.159C>A	chr4.hg19:g.66535302G>T			Q7Z3F2	Silent	SNP	ENST00000273854.3	hg19	CCDS3513.1																																																																																				0.711	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		T	66535302	G	T	66535302	2	4	11	1	0	0	0	0	0	0	0	1	5172	1161	41	4		4	EPHA5	4	66535302	Silent	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	26755949	66535302	124618974	19	845											
FAT4	79633	hgsc.bcm.edu	37	4	126239708	126239708	+	Silent	SNP	T	T	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr4:126239708T>C	ENST00000394329.3	+	1	2155	c.2142T>C	c.(2140-2142)acT>acC	p.T714T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	714	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTCTGCCACTGACCCAGACT	0.463																																																0													75	78	77					4																	126239708		2014	4191	6205	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2142T>C	chr4.hg19:g.126239708T>C			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	hg19	CCDS3732.3																																																																																				0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126239708	T	C	126239708	2	2	11	1	0	0	0	0	0	0	0	1	5694	1567	55	3		3	FAT4	4	126239708	Silent	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	59704406	126239708	64914568	20	846											
POU5F2	134187	hgsc.bcm.edu	37	5	93076747	93076747	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr5:93076747C>T	ENST00000510627.4	-	1	596	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	175	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CACATGTTGGCGACGCTTAGC	0.557																																																0													85	87	86					5																	93076747		2162	4282	6444	SO:0001583	missense	134187				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.523G>A	chr5.hg19:g.93076747C>T	ENSP00000464890:p.Ala175Thr		Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	hg19	CCDS59489.1																																																																																				0.557	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		T	93076747	C	T	93076747	3	4	11	1	0	0	0	0	1	0	0	0	12285	768	27	1	467	1	POU5F2	5	93076747	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10		93076747	87838513	21	847											
GLRA1	2741	hgsc.bcm.edu	37	5	151231003	151231003	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr5:151231003G>A	ENST00000455880.2	-	7	1146	c.860C>T	c.(859-861)aCt>aTt	p.T287I	GLRA1_ENST00000274576.4_Missense_Mutation_p.T287I|GLRA1_ENST00000545569.1_Missense_Mutation_p.T204I|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	287					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTGAGCACAGTGGTGATGCC	0.537																																																0													138	120	126					5																	151231003		2203	4300	6503	SO:0001583	missense	2741				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.860C>T	chr5.hg19:g.151231003G>A	ENSP00000411593:p.Thr287Ile		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	hg19	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960480	0.92791	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.86562	-2.14;-2.14;-2.14	5.2	5.2	0.72013	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94072	0.8100	M	0.84433	2.695	0.80722	D	1	D;D;D	0.69078	0.974;0.997;0.993	D;D;D	0.69479	0.916;0.964;0.939	D	0.94738	0.7916	10	0.87932	D	0	.	19.1084	0.93307	0.0:0.0:1.0:0.0	.	287;204;287	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	I	287;287;204	ENSP00000274576:T287I;ENSP00000411593:T287I;ENSP00000445913:T204I	ENSP00000274576:T287I	T	-	2	0	GLRA1	151211196	1.000000	0.71417	0.963000	0.40424	0.991000	0.79684	9.640000	0.98453	2.579000	0.87056	0.655000	0.94253	ACT		0.537	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			A	151231003	G	A	151231003	3	1	11	1	0	0	0	0	1	0	0	0	6456	1029	36	2	525	2	GLRA1	5	151231003	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	58154256	151231003	29684257	22	848											
NEDD9	4739	hgsc.bcm.edu	37	6	11185765	11185765	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr6:11185765T>C	ENST00000379446.5	-	7	2301	c.2135A>G	c.(2134-2136)tAt>tGt	p.Y712C	NEDD9_ENST00000504387.1_Missense_Mutation_p.Y712C|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	712	Divergent helix-loop-helix motif.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			ACATTGGTCATAGTAGAAGCA	0.547																																																0													163	135	145					6																	11185765		2203	4300	6503	SO:0001583	missense	4739			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2135A>G	chr6.hg19:g.11185765T>C	ENSP00000368759:p.Tyr712Cys		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	hg19	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.312654	0.60414	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.21734	1.99;1.99	6.11	4.89	0.63831	CAS family, DUF3513 (1);	0.387436	0.30869	N	0.008715	T	0.11452	0.0279	N	0.08118	0	0.80722	D	1	P;D;D	0.58970	0.933;0.973;0.984	P;P;P	0.62649	0.77;0.852;0.905	T	0.06844	-1.0804	10	0.39692	T	0.17	-19.1901	7.3267	0.26560	0.1154:0.0:0.2691:0.6154	.	712;712;712	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	C	712	ENSP00000368759:Y712C;ENSP00000422871:Y712C	ENSP00000368759:Y712C	Y	-	2	0	NEDD9	11293751	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.547000	0.60712	2.343000	0.79666	0.533000	0.62120	TAT		0.547	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		C	11185765	T	C	11185765	3	2	11	1	0	0	0	0	1	0	0	0	10315	1406	49	3	373	3	NEDD9	6	11185765	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10		11185765	159929302	23	849											
PHF3	23469	hgsc.bcm.edu	37	6	64421622	64421622	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr6:64421622delA	ENST00000262043.3	+	16	4478	c.4138delA	c.(4138-4140)aaafs	p.K1381fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.K1381fs			Q92576	PHF3_HUMAN	PHD finger protein 3	1381					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCCACCTGATAAAAAAAGTAA	0.378																																					GBM(135;136 1820 29512 34071 46235)											0													89	99	96					6																	64421622		2203	4300	6503	SO:0001589	frameshift_variant	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4138delA	chr6.hg19:g.64421622delA	ENSP00000262043:p.Lys1381fs		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Del	DEL	ENST00000262043.3	hg19	CCDS4966.1																																																																																				0.378	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			-	64421622	A	-	64421622	7	5	11	1	0	1	0	1	0	0	0	0	11838	363	13	0	4196	0	PHF3	6	64421622	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JG-01A-11D-A42J-10	53235857	64421622	106693445	24	850											
VTA1	51534	hgsc.bcm.edu	37	6	142491530	142491530	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr6:142491530delT	ENST00000367630.4	+	4	441	c.383delT	c.(382-384)atafs	p.I128fs	VTA1_ENST00000452973.2_Frame_Shift_Del_p.I70fs|VTA1_ENST00000367621.1_Frame_Shift_Del_p.I70fs|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	128	Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATAGATGTCATAACAGTATTT	0.318																																																0													132	144	140					6																	142491530		2203	4294	6497	SO:0001589	frameshift_variant	51534			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"chromosome 6 open reading frame 55", "Vps20-associated 1 homolog (S. cerevisiae)"	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.383delT	chr6.hg19:g.142491530delT	ENSP00000356602:p.Ile128fs		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Frame_Shift_Del	DEL	ENST00000367630.4	hg19	CCDS5197.1																																																																																				0.318	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		-	142491530	T	-	142491530	7	5	11	1	0	1	0	1	0	0	0	0	17238	1406	49	0	397	0	VTA1	6	142491530	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JG-01A-11D-A42J-10	78069908	142491530	28623537	25	851											
SYNE1	23345	hgsc.bcm.edu	37	6	152497619	152497619	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr6:152497619G>A	ENST00000367255.5	-	130	24138	c.23537C>T	c.(23536-23538)gCc>gTc	p.A7846V	SYNE1_ENST00000356820.4_Missense_Mutation_p.A2370V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A7458V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7846V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7775V|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7775V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7846					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCATGGCTGGCTTTAGCAAG	0.443										HNSCC(10;0.0054)																																						0													291	276	281					6																	152497619		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23537C>T	chr6.hg19:g.152497619G>A	ENSP00000356224:p.Ala7846Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	35	5.446314	0.96187	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367251	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.75	5.75	0.90469	.	0.000000	0.56097	D	0.000025	T	0.65344	0.2682	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.996;0.993;0.996;0.986	T	0.66118	-0.6003	10	0.62326	D	0.03	.	19.9341	0.97130	0.0:0.0:1.0:0.0	.	7846;7846;7775;7775;48	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	V	7846;492;7775;7846;7775;7458;2370;8;768	ENSP00000356224:A7846V;ENSP00000356226:A492V;ENSP00000396024:A7775V;ENSP00000265368:A7846V;ENSP00000390975:A7775V;ENSP00000341887:A7458V;ENSP00000349276:A2370V;ENSP00000356220:A768V	ENSP00000265368:A7846V	A	-	2	0	SYNE1	152539312	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.692000	0.98682	2.711000	0.92665	0.563000	0.77884	GCC		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152497619	G	A	152497619	3	1	11	1	0	0	0	0	1	0	0	0	15450	1203	42	2	2997	2	SYNE1	6	152497619	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	10006089	152497619	18617448	26	852											
BUD31	8896	hgsc.bcm.edu	37	7	99008752	99008752	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr7:99008752G>A	ENST00000403633.2	+	3	566	c.37G>A	c.(37-39)Gat>Aat	p.D13N	snoU13_ENST00000458831.1_RNA|PDAP1_ENST00000350498.3_5'Flank|BUD31_ENST00000456893.1_Missense_Mutation_p.D13N|BUD31_ENST00000222969.5_Missense_Mutation_p.D13N			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	13					regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGCACCCCCAGATGGCTGGGA	0.473																																																0													72	75	74					7																	99008752		2203	4300	6503	SO:0001583	missense	8896			BC022821	CCDS5663.1	7q22.1	2012-06-07	2007-01-12	2006-03-16	ENSG00000106245	ENSG00000106245			29629	protein-coding gene	gene with protein product	"G10 maternal transcript homolog (Xenopus laevis)", "functional spliceosome-associated protein 17"	603477	"BUD31 homolog (yeast)"			7841202	Standard	NM_003910		Approved	YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14	uc003uqg.4	P41223	OTTHUMG00000154602	ENST00000403633.2:c.37G>A	chr7.hg19:g.99008752G>A	ENSP00000386023:p.Asp13Asn		A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1	Missense_Mutation	SNP	ENST00000403633.2	hg19	CCDS5663.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447418	0.84101	.	.	ENSG00000106245	ENST00000403633;ENST00000222969;ENST00000456893	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	L	0.35644	1.08	0.80722	D	1	B;B	0.17038	0.02;0.002	B;B	0.18871	0.023;0.008	T	0.53940	-0.8367	9	0.59425	D	0.04	-21.7032	19.2823	0.94057	0.0:0.0:1.0:0.0	.	13;13	B7Z4S9;P41223	.;BUD31_HUMAN	N	13	.	ENSP00000222969:D13N	D	+	1	0	BUD31	98846688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.128000	0.94424	2.550000	0.86006	0.655000	0.94253	GAT		0.473	BUD31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336275.1	NM_003910		A	99008752	G	A	99008752	3	1	11	1	0	0	0	0	1	0	0	0	1576	942	33	2	39	2	BUD31	7	99008752	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10		99008752	60129911	27	853											
MBLAC1	255374	hgsc.bcm.edu	37	7	99725163	99725163	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr7:99725163C>T	ENST00000398075.2	+	2	544	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	49							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						CCTGGTCCTACCCCAGACCCG	0.751																																																0													7	8	8					7																	99725163		1845	4050	5895	SO:0001583	missense	255374			BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.145C>T	chr7.hg19:g.99725163C>T	ENSP00000381150:p.Pro49Ser		Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	hg19	CCDS43620.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818874	0.32145	.	.	ENSG00000214309	ENST00000398075;ENST00000421390	T;T	0.50001	1.19;0.76	4.23	4.23	0.50019	.	.	.	.	.	T	0.54481	0.1861	L	0.29908	0.895	0.36843	D	0.88752	D	0.89917	1.0	D	0.80764	0.994	T	0.55768	-0.8089	9	0.27785	T	0.31	.	14.4901	0.67645	0.0:1.0:0.0:0.0	.	49	A4D2B0	MBLC1_HUMAN	S	49	ENSP00000381150:P49S;ENSP00000406055:P49S	ENSP00000381150:P49S	P	+	1	0	MBLAC1	99563099	0.957000	0.32711	0.694000	0.30210	0.029000	0.11900	0.489000	0.22387	2.361000	0.80049	0.561000	0.74099	CCC		0.751	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		T	99725163	C	T	99725163	3	4	11	1	0	0	0	0	1	0	0	0	9353	507	18	2	147	2	MBLAC1	7	99725163	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10	716411	99725163	59413500	28	854											
KLHDC10	23008	hgsc.bcm.edu	37	7	129760626	129760626	+	Silent	SNP	T	T	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr7:129760626T>C	ENST00000335420.5	+	4	647	c.513T>C	c.(511-513)ggT>ggC	p.G171G		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	171						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TATTTGGAGGTACGGGCATCC	0.468																																																0													219	193	202					7																	129760626		2203	4300	6503	SO:0001819	synonymous_variant	23008				CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"scruin like at the midline homolog (Drosophila)"	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.513T>C	chr7.hg19:g.129760626T>C			Q86Y99|Q92554	Silent	SNP	ENST00000335420.5	hg19	CCDS5815.1																																																																																				0.468	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			C	129760626	T	C	129760626	2	2	11	1	0	0	0	0	0	0	0	1	8357	1625	57	3		3	KLHDC10	7	129760626	Silent	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	30035463	129760626	29378037	29	855											
ESYT2	57488	hgsc.bcm.edu	37	7	158528197	158528197	+	Silent	SNP	G	G	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr7:158528197G>A	ENST00000251527.5	-	20	2648	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	ESYT2_ENST00000435514.2_Silent_p.G296G	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	889	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CACTTACTTTGCCAAGGAGCC	0.468																																																0													153	158	156					7																	158528197		2203	4300	6503	SO:0001819	synonymous_variant	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2583C>T	chr7.hg19:g.158528197G>A			A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	ENST00000251527.5	hg19	CCDS34791.1																																																																																				0.468	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		A	158528197	G	A	158528197	2	1	11	1	0	0	0	0	0	0	0	1	5267	1306	46	2		2	ESYT2	7	158528197	Silent	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	28767571	158528197	610466	30	856											
RB1CC1	9821	hgsc.bcm.edu	37	8	53596456	53596456	+	Silent	SNP	A	A	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr8:53596456A>G	ENST00000025008.5	-	4	712	c.189T>C	c.(187-189)agT>agC	p.S63S	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.S63S|RB1CC1_ENST00000539297.1_Silent_p.S63S	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	63					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CCGTCCCAGCACTGTAGGTAC	0.428																																					GBM(180;1701 2102 13475 42023 52570)											0													124	100	108					8																	53596456		2203	4300	6503	SO:0001819	synonymous_variant	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.189T>C	chr8.hg19:g.53596456A>G			Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	hg19	CCDS34892.1																																																																																				0.428	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		G	53596456	A	G	53596456	2	3	11	1	0	0	0	0	0	0	0	1	13105	156	6	3		3	RB1CC1	8	53596456	Silent	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10		53596456	92767566	31	857											
GGH	8836	hgsc.bcm.edu	37	8	63936714	63936714	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr8:63936714delA	ENST00000260118.6	-	6	933	c.531delT	c.(529-531)tttfs	p.F177fs	GGH_ENST00000518113.1_5'UTR|RP11-659E9.4_ENST00000521556.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	177	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	ACTCAGTAGGAAAATTCTGGA	0.353																																																0													44	43	43					8																	63936714		2203	4300	6503	SO:0001589	frameshift_variant	8836			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.531delT	chr8.hg19:g.63936714delA	ENSP00000260118:p.Phe177fs			Frame_Shift_Del	DEL	ENST00000260118.6	hg19	CCDS6177.1																																																																																				0.353	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			-	63936714	A	-	63936714	7	5	11	1	0	1	0	1	0	0	0	0	6359	243	9	0	441	0	GGH	8	63936714	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JG-01A-11D-A42J-10	10340258	63936714	82427308	32	858											
TLN1	7094	hgsc.bcm.edu	37	9	35714845	35714845	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr9:35714845G>T	ENST00000314888.9	-	22	3136	c.2783C>A	c.(2782-2784)gCc>gAc	p.A928D	TLN1_ENST00000540444.1_Missense_Mutation_p.A928D	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	928					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCTGTGTGGCTGAGGCTGC	0.627																																																0													43	48	47					9																	35714845		2202	4299	6501	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2783C>A	chr9.hg19:g.35714845G>T	ENSP00000316029:p.Ala928Asp		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060455	0.93846	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.76186	-1.0;-0.99	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.87645	0.6229	M	0.83223	2.63	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.88934	0.3375	10	0.87932	D	0	-11.6429	19.5343	0.95242	0.0:0.0:1.0:0.0	.	928	Q9Y490	TLN1_HUMAN	D	928	ENSP00000316029:A928D;ENSP00000442981:A928D	ENSP00000316029:A928D	A	-	2	0	TLN1	35704845	1.000000	0.71417	0.911000	0.35937	0.993000	0.82548	9.753000	0.98904	2.601000	0.87937	0.655000	0.94253	GCC		0.627	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		T	35714845	G	T	35714845	3	4	11	1	0	0	0	0	1	0	0	0	15952	1203	42	4	4986	4	TLN1	9	35714845	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10		35714845	105498586	33	859											
ASPN	54829	hgsc.bcm.edu	37	9	95237024	95237025	+	In_Frame_Ins	INS	-	-	TCCTCA	rs113747060|rs71362392|rs111419727|rs3078372|rs397838876|rs376433743|rs557103556	byFrequency	TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr9:95237024_95237025insTCCTCA	ENST00000375544.3	-	2	398_399	c.155_156insTGAGGA	c.(154-156)gag>gaTGAGGAg	p.51_52insDE	ASPN_ENST00000395538.3_In_Frame_Ins_p.51_52insDE|ASPN_ENST00000450139.2_In_Frame_Ins_p.23_24insDE|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_In_Frame_Ins_p.51_52insDE	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	51	Poly-Asp.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GAGAGTTGTCCtcatcatcatc	0.396																																																0																																										SO:0001652	inframe_insertion	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.155_156insTGAGGA	chr9.hg19:g.95237024_95237025insTCCTCA	ENSP00000364694:p.Asp51_Glu52insAspGlu		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	In_Frame_Ins	INS	ENST00000375544.3	hg19																																																																																					0.396	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		TCCTCA	95237025	-	TCCTCA	95237024	7	5	11	1	0	1	1	0	0	0	0	0	1057	680	24	0	1014	0	ASPN	9	95237024	In_Frame_Ins	INS	-	TCGA-2Z-A9JG-01A-11D-A42J-10	59522179	95237024	45976407	34	860											
ANKS6	203286	hgsc.bcm.edu	37	9	101546386	101546386	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr9:101546386A>C	ENST00000353234.4	-	4	1008	c.961T>G	c.(961-963)Ttg>Gtg	p.L321V	ANKS6_ENST00000375018.1_Missense_Mutation_p.L321V|ANKS6_ENST00000540940.1_Missense_Mutation_p.L126V|ANKS6_ENST00000375019.2_Missense_Mutation_p.L20V			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	321						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CCATTGACCAAGTTCACGTGG	0.587																																																0													68	72	71					9																	101546386		2118	4226	6344	SO:0001583	missense	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.961T>G	chr9.hg19:g.101546386A>C	ENSP00000297837:p.Leu321Val		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	hg19	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	A	9.120	1.008825	0.19199	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.53423	1.37;1.37;1.37;0.62	5.52	2.4	0.29515	Ankyrin repeat-containing domain (4);	0.526064	0.21137	N	0.079547	T	0.21841	0.0526	N	0.13299	0.325	0.30021	N	0.814303	B	0.13145	0.007	B	0.17433	0.018	T	0.11131	-1.0600	10	0.14252	T	0.57	-2.3181	0.9732	0.01420	0.2075:0.1252:0.3954:0.2718	.	321	Q68DC2	ANKS6_HUMAN	V	20;321;321;126	ENSP00000364159:L20V;ENSP00000364158:L321V;ENSP00000297837:L321V;ENSP00000442189:L126V	ENSP00000297837:L321V	L	-	1	2	ANKS6	100586207	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	1.386000	0.34419	0.281000	0.22233	-0.248000	0.11899	TTG		0.587	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		C	101546386	A	C	101546386	3	2	11	1	0	0	0	0	1	0	0	0	692	69	3	5	1702	5	ANKS6	9	101546386	Missense_Mutation	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10	6309362	101546386	39667045	35	861											
FAM102A	399665	hgsc.bcm.edu	37	9	130742371	130742371	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr9:130742371A>C	ENST00000373095.1	-	1	421	c.46T>G	c.(46-48)Ttc>Gtc	p.F16V		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	16										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCCAGGGTGAAAGTAGTTTGG	0.527																																																0													118	133	128					9																	130742371		2203	4300	6503	SO:0001583	missense	399665				CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.46T>G	chr9.hg19:g.130742371A>C	ENSP00000362187:p.Phe16Val		A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	hg19	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.125094	0.37533	.	.	ENSG00000167106	ENST00000373095	T	0.35789	1.29	4.87	4.87	0.63330	.	0.300781	0.36374	N	0.002623	T	0.24509	0.0594	N	0.20807	0.61	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.04870	-1.0921	10	0.25106	T	0.35	-14.1942	13.6554	0.62336	1.0:0.0:0.0:0.0	.	16	Q5T9C2	F102A_HUMAN	V	16	ENSP00000362187:F16V	ENSP00000362187:F16V	F	-	1	0	FAM102A	129782192	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	3.399000	0.52586	1.821000	0.53095	0.379000	0.24179	TTC		0.527	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			C	130742371	A	C	130742371	3	2	11	1	0	0	0	0	1	0	0	0	5384	14	1	5	1152	5	FAM102A	9	130742371	Missense_Mutation	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10	29195985	130742371	10471060	36	862											
C9orf96	169436	hgsc.bcm.edu	37	9	136253234	136253234	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr9:136253234T>G	ENST00000371957.3	+	5	405	c.298T>G	c.(298-300)Tct>Gct	p.S100A	C9orf96_ENST00000426926.2_Missense_Mutation_p.S100A|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCAGCAGATCTCTTCTCTGTA	0.562																																																0													88	73	78					9																	136253234		2203	4300	6503	SO:0001583	missense	169436																														ENST00000371957.3:c.298T>G	chr9.hg19:g.136253234T>G	ENSP00000361025:p.Ser100Ala		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	hg19	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451340	0.26074	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T;T	0.20463	2.07;2.07	4.12	2.93	0.34026	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.113616	0.39341	N	0.001387	T	0.19927	0.0479	L	0.60455	1.87	0.80722	D	1	B	0.18968	0.032	B	0.19391	0.025	T	0.04495	-1.0947	10	0.59425	D	0.04	-19.6937	6.8088	0.23792	0.2081:0.0:0.0:0.7919	.	100	Q8NE28	SGK71_HUMAN	A	100	ENSP00000398807:S100A;ENSP00000361025:S100A	ENSP00000361025:S100A	S	+	1	0	C9orf96	135243055	1.000000	0.71417	0.994000	0.49952	0.495000	0.33615	2.499000	0.45372	0.537000	0.28751	0.459000	0.35465	TCT		0.562	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			G	136253234	T	G	136253234	3	3	11	1	0	0	0	0	1	0	0	0	2510	1551	54	5	316	5	C9orf96	9	136253234	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	5510863	136253234	4960197	37	863											
ARID5B	84159	hgsc.bcm.edu	37	10	63829547	63829547	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr10:63829547A>G	ENST00000279873.7	+	8	1600	c.1190A>G	c.(1189-1191)cAt>cGt	p.H397R	ARID5B_ENST00000309334.5_Missense_Mutation_p.H154R	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	397	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACCCGCAGACATTATGAAAGG	0.418																																																0													47	47	47					10																	63829547		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1190A>G	chr10.hg19:g.63829547A>G	ENSP00000279873:p.His397Arg		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	hg19	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710719	0.89112	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.64085	-0.08;-0.08	6.1	6.1	0.99115	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.83956	0.0319	10	0.87932	D	0	-17.5963	16.686	0.85306	1.0:0.0:0.0:0.0	.	154;397	Q14865-2;Q14865	.;ARI5B_HUMAN	R	397;154	ENSP00000279873:H397R;ENSP00000308862:H154R	ENSP00000279873:H397R	H	+	2	0	ARID5B	63499553	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.791000	0.91849	2.340000	0.79590	0.528000	0.53228	CAT		0.418	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		G	63829547	A	G	63829547	3	3	11	1	0	0	0	0	1	0	0	0	922	217	8	3	1220	3	ARID5B	10	63829547	Missense_Mutation	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10		63829547	71705200	38	864											
DPYSL4	10570	hgsc.bcm.edu	37	10	134011925	134011925	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr10:134011925A>T	ENST00000338492.4	+	7	792	c.628A>T	c.(628-630)Aag>Tag	p.K210*	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	210					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TTAGGAGCAGAAGCGGTTGCT	0.632																																																0													54	48	50					10																	134011925		2191	4296	6487	SO:0001587	stop_gained	10570			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.628A>T	chr10.hg19:g.134011925A>T	ENSP00000339850:p.Lys210*		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Nonsense_Mutation	SNP	ENST00000338492.4	hg19	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	A	37	6.019877	0.97205	.	.	ENSG00000151640	ENST00000338492	.	.	.	3.7	3.7	0.42460	.	0.166643	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4525	12.9144	0.58197	1.0:0.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000339850:K210X	K	+	1	0	DPYSL4	133861915	0.974000	0.33945	0.998000	0.56505	0.612000	0.37316	2.815000	0.48018	1.704000	0.51252	0.454000	0.30748	AAG		0.632	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			T	134011925	A	T	134011925	4	4	11	1	0	0	0	0	0	1	0	0	4751	247	9	5	654	5	DPYSL4	10	134011925	Nonsense_Mutation	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10	70182378	134011925	1522822	39	865											
FRG2B	441581	hgsc.bcm.edu	37	10	135438923	135438923	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr10:135438923T>C	ENST00000425520.1	-	4	569	c.517A>G	c.(517-519)Aaa>Gaa	p.K173E	FRG2B_ENST00000443774.1_Missense_Mutation_p.K174E	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	173						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ACCAAGCTTTTTCGAATTGAC	0.562																																																0													123	147	139					10																	135438923		2190	4294	6484	SO:0001583	missense	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.517A>G	chr10.hg19:g.135438923T>C	ENSP00000401310:p.Lys173Glu		Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	hg19	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	12.42	1.931878	0.34096	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.64260	-0.09;-0.09	.	.	.	.	0.384192	0.19253	N	0.118862	T	0.62998	0.2474	L	0.34521	1.04	0.09310	N	1	D	0.56035	0.974	D	0.67725	0.953	T	0.53436	-0.8439	8	0.87932	D	0	-16.2917	.	.	.	.	173	Q96QU4	FRG2B_HUMAN	E	174;173	ENSP00000408343:K174E;ENSP00000401310:K173E	ENSP00000401310:K173E	K	-	1	0	FRG2B	135288913	0.016000	0.18221	0.226000	0.23910	0.228000	0.25075	0.264000	0.18497	0.103000	0.17682	0.102000	0.15555	AAA		0.562	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		C	135438923	T	C	135438923	3	2	11	1	0	0	0	0	1	0	0	0	6049	1850	64	3	322	3	FRG2B	10	135438923	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	1426998	135438923	95824	40	866											
KCNQ1	3784	hgsc.bcm.edu	37	11	2608884	2608884	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr11:2608884C>G	ENST00000155840.5	+	9	1321	c.1213C>G	c.(1213-1215)Ctg>Gtg	p.L405V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.L278V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	405					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GAGCCACACTCTGCTGTCACC	0.652																																																0													76	81	79					11																	2608884		2202	4299	6501	SO:0001583	missense	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1213C>G	chr11.hg19:g.2608884C>G	ENSP00000155840:p.Leu405Val		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	hg19	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	C	0.313	-0.966773	0.02232	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99239	-5.61;-5.51	4.86	2.9	0.33743	.	0.361282	0.26983	N	0.021502	D	0.96519	0.8864	L	0.35854	1.095	0.24869	N	0.992293	B;B;B	0.18610	0.003;0.002;0.029	B;B;B	0.13407	0.009;0.004;0.009	D	0.91555	0.5260	10	0.30078	T	0.28	-13.9224	4.0468	0.09776	0.1633:0.5886:0.1585:0.0896	.	278;278;405	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	V	405;278	ENSP00000155840:L405V;ENSP00000334497:L278V	ENSP00000155840:L405V	L	+	1	2	KCNQ1	2565460	0.048000	0.20356	0.242000	0.24170	0.042000	0.13812	0.264000	0.18497	0.519000	0.28406	0.650000	0.86243	CTG		0.652	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		G	2608884	C	G	2608884	3	3	11	1	0	0	0	0	1	0	0	0	8084	912	32	4	1256	4	KCNQ1	11	2608884	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10		2608884	132397632	41	867											
OR4A5	81318	hgsc.bcm.edu	37	11	51411524	51411524	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr11:51411524A>C	ENST00000319760.6	-	1	924	c.872T>G	c.(871-873)aTg>aGg	p.M291R		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGCATTTCTCATCTCTGAATT	0.353																																																0													30	32	31					11																	51411524		2201	4294	6495	SO:0001583	missense	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.872T>G	chr11.hg19:g.51411524A>C	ENSP00000367664:p.Met291Arg		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	hg19	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	11.66	1.703620	0.30232	.	.	ENSG00000221840	ENST00000319760	T	0.37584	1.19	2.2	2.2	0.27929	.	0.425474	0.20570	N	0.089751	T	0.40372	0.1114	L	0.38175	1.15	0.26994	N	0.965077	D	0.54964	0.969	P	0.58780	0.845	T	0.11446	-1.0587	10	0.87932	D	0	.	8.3006	0.32012	1.0:0.0:0.0:0.0	.	291	Q8NH83	OR4A5_HUMAN	R	291	ENSP00000367664:M291R	ENSP00000367664:M291R	M	-	2	0	OR4A5	51268100	0.141000	0.22595	0.071000	0.20095	0.246000	0.25737	3.336000	0.52113	1.270000	0.44297	0.136000	0.15936	ATG		0.353	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		C	51411524	A	C	51411524	3	2	11	1	0	0	0	0	1	0	0	0	11045	217	8	5	79	5	OR4A5	11	51411524	Missense_Mutation	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10	48802640	51411524	83594992	42	868											
PCNXL3	399909	hgsc.bcm.edu	37	11	65395000	65395000	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr11:65395000C>G	ENST00000355703.3	+	22	4188	c.3649C>G	c.(3649-3651)Ctc>Gtc	p.L1217V		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1217						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTACCCGCGCCTCTCCCAGGG	0.612																																																0													175	174	175					11																	65395000		2052	4183	6235	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3649C>G	chr11.hg19:g.65395000C>G	ENSP00000347931:p.Leu1217Val		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	hg19	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586169	0.46110	.	.	ENSG00000197136	ENST00000355703	T	0.07327	3.2	5.47	5.47	0.80525	.	0.063724	0.64402	D	0.000005	T	0.08223	0.0205	L	0.34521	1.04	0.29366	N	0.86432	B;B	0.31705	0.336;0.3	B;B	0.35550	0.205;0.066	T	0.15694	-1.0428	10	0.25106	T	0.35	.	12.2064	0.54355	0.1703:0.8297:0.0:0.0	.	104;1217	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	V	1217	ENSP00000347931:L1217V	ENSP00000347931:L1217V	L	+	1	0	PCNXL3	65151576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.969000	0.63735	2.735000	0.93741	0.655000	0.94253	CTC		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		G	65395000	C	G	65395000	3	3	11	1	0	0	0	0	1	0	0	0	11595	681	24	4	3735	4	PCNXL3	11	65395000	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10	13983476	65395000	69611516	43	869											
KIAA1377	57562	hgsc.bcm.edu	37	11	101829047	101829047	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr11:101829047C>G	ENST00000263468.8	+	5	925	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	KIAA1377_ENST00000537689.1_Missense_Mutation_p.L20V	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	219										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCAGCTTAAACTGGAGGAAAC	0.333																																																0													124	133	130					11																	101829047		2203	4299	6502	SO:0001583	missense	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.655C>G	chr11.hg19:g.101829047C>G	ENSP00000263468:p.Leu219Val		Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	hg19	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935593	0.52866	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.18338	2.22;2.22	5.68	3.82	0.43975	.	0.000000	0.47455	D	0.000228	T	0.39517	0.1081	M	0.76002	2.32	0.29116	N	0.880558	D	0.89917	1.0	D	0.91635	0.999	T	0.30621	-0.9972	10	0.56958	D	0.05	-4.4834	11.0161	0.47689	0.0:0.8476:0.0:0.1524	.	219	Q9P2H0	K1377_HUMAN	V	219;20	ENSP00000263468:L219V;ENSP00000443184:L20V	ENSP00000263468:L219V	L	+	1	2	KIAA1377	101334257	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.310000	0.51911	0.753000	0.32945	0.650000	0.86243	CTG		0.333	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		G	101829047	C	G	101829047	3	3	11	1	0	0	0	0	1	0	0	0	8229	564	20	4	673	4	KIAA1377	11	101829047	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10	36434047	101829047	33177469	44	870											
VWF	7450	hgsc.bcm.edu	37	12	6103203	6103203	+	Silent	SNP	G	G	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr12:6103203G>T	ENST00000261405.5	-	37	6677	c.6423C>A	c.(6421-6423)gtC>gtA	p.V2141V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2141	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTAAGAGGAGGACCTGGCAGT	0.582																																																0													89	78	82					12																	6103203		2203	4300	6503	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6423C>A	chr12.hg19:g.6103203G>T			Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	hg19	CCDS8539.1																																																																																				0.582	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6103203	G	T	6103203	2	4	11	1	0	0	0	0	0	0	0	1	17251	1161	41	4		4	VWF	12	6103203	Silent	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10		6103203	127748692	45	871											
KLHDC5	57542	hgsc.bcm.edu	37	12	27950834	27950834	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr12:27950834T>A	ENST00000381271.2	+	3	1564	c.1253T>A	c.(1252-1254)gTg>gAg	p.V418E	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	418					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ATGCTCACCGTGCAGTCCTAC	0.587																																																0													121	84	97					12																	27950834		2203	4300	6503	SO:0001583	missense	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1253T>A	chr12.hg19:g.27950834T>A	ENSP00000370671:p.Val418Glu		Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	hg19	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	T	31	5.074624	0.94000	.	.	ENSG00000087448	ENST00000381271	T	0.70749	-0.51	5.56	5.56	0.83823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.82001	0.4942	M	0.65975	2.015	0.54753	D	0.999987	D	0.89917	1.0	D	0.69307	0.963	D	0.84164	0.0430	10	0.87932	D	0	.	14.9054	0.70715	0.0:0.0:0.0:1.0	.	418	Q9P2K6	KLDC5_HUMAN	E	418	ENSP00000370671:V418E	ENSP00000370671:V418E	V	+	2	0	KLHDC5	27842101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.474000	0.81024	2.109000	0.64355	0.533000	0.62120	GTG		0.587	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		A	27950834	T	A	27950834	3	1	11	1	0	0	0	0	1	0	0	0	8361	1696	59	5	1263	5	KLHDC5	12	27950834	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	21847631	27950834	105901061	46	872											
SMAGP	57228	hgsc.bcm.edu	37	12	51639787	51639787	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr12:51639787C>T	ENST00000603798.1	-	4	904	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000604900.1_Intron|SMAGP_ENST00000603864.1_Missense_Mutation_p.A78T|SMAGP_ENST00000398453.3_Missense_Mutation_p.A78T|SMAGP_ENST00000605627.1_Missense_Mutation_p.A64T	NM_001031628.1	NP_001026798.1	Q0VAQ4	SMAGP_HUMAN	small cell adhesion glycoprotein	78						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)											TGGACGATGGCACTGGGCTCA	0.507																																																0													140	133	135					12																	51639787		2012	4176	6188	SO:0001583	missense	57228				CCDS44889.1	12q13.13	2010-02-17			ENSG00000170545	ENSG00000170545			26918	protein-coding gene	gene with protein product	"small trans-membrane and glycosylated protein"					15021913	Standard	NM_001031628		Approved	MGC149453, MGC149454, hSMAGP	uc001rye.1	Q0VAQ4		ENST00000603798.1:c.232G>A	chr12.hg19:g.51639787C>T	ENSP00000475068:p.Ala78Thr		A6NIL5	Missense_Mutation	SNP	ENST00000603798.1	hg19	CCDS44889.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937529	0.52972	.	.	ENSG00000170545	ENST00000380103;ENST00000398453	T	0.79033	-1.23	5.28	3.33	0.38152	.	0.384184	0.18291	U	0.145714	T	0.68559	0.3014	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.63686	-0.6581	9	0.66056	D	0.02	2.7494	8.1908	0.31368	0.0:0.7302:0.0:0.2698	.	78	Q0VAQ4	SMAGP_HUMAN	T	78	ENSP00000381471:A78T	ENSP00000369446:A78T	A	-	1	0	SMAGP	49926054	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-0.024000	0.12435	0.630000	0.30394	0.655000	0.94253	GCC		0.507	SMAGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469789.1	NM_020467		T	51639787	C	T	51639787	3	4	11	1	0	0	0	0	1	0	0	0	14771	710	25	2	65	2	SMAGP	12	51639787	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10	23688953	51639787	82212108	47	873											
CEP290	80184	hgsc.bcm.edu	37	12	88523531	88523532	+	Frame_Shift_Ins	INS	-	-	AAAA			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr12:88523531_88523532insAAAA	ENST00000552810.1	-	10	1134_1135	c.791_792insTTTT	c.(790-792)gtgfs	p.-264fs	CEP290_ENST00000309041.7_Frame_Shift_Ins_p.-264fs|CEP290_ENST00000397838.3_5'Flank	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTGTCTGATGCACAATAGCTTT	0.272																																																0																																										SO:0001589	frameshift_variant	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.791_792insTTTT	chr12.hg19:g.88523531_88523532insAAAA	ENSP00000448012:p.Val264fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	ENST00000552810.1	hg19	CCDS55858.1																																																																																				0.272	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		AAAA	88523532	-	AAAA	88523531	7	5	11	1	0	1	1	0	0	0	0	0	3255	697	25	0	6827	0	CEP290	12	88523531	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JG-01A-11D-A42J-10	36883744	88523531	45328364	48	874	7	2									
CEP290	80184	hgsc.bcm.edu	37	12	88523533	88523534	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr12:88523533_88523534insA	ENST00000552810.1	-	10	1132_1133	c.789_790insT	c.(787-792)attgtgfs	p.V264fs	CEP290_ENST00000309041.7_Frame_Shift_Ins_p.V264fs|CEP290_ENST00000397838.3_5'Flank	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	264					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTCTGATGCACAATAGCTTTCA	0.272																																																0																																										SO:0001589	frameshift_variant	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.790dupT	chr12.hg19:g.88523535_88523535dupA	ENSP00000448012:p.Val264fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	ENST00000552810.1	hg19	CCDS55858.1																																																																																				0.272	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		A	88523534	-	A	88523533	7	5	11	1	0	1	1	0	0	0	0	0	3255	478	17	0	6829	0	CEP290	12	88523533	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JG-01A-11D-A42J-10	2	88523533	45328362	49	875	7	2									
CUX2	23316	hgsc.bcm.edu	37	12	111729279	111729279	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr12:111729279G>A	ENST00000261726.6	+	5	513	c.359G>A	c.(358-360)aGc>aAc	p.S120N		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	120					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGCCCCCCAGCTTTGACCCC	0.622																																																0													48	55	53					12																	111729279		1950	4145	6095	SO:0001583	missense	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.359G>A	chr12.hg19:g.111729279G>A	ENSP00000261726:p.Ser120Asn		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	hg19	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	g	16.86	3.238901	0.58995	.	.	ENSG00000111249	ENST00000261726;ENST00000397643;ENST00000552889	T	0.47869	0.83	4.7	3.8	0.43715	.	0.460095	0.27143	N	0.020730	T	0.32526	0.0832	L	0.29908	0.895	0.30049	N	0.81191	B;B	0.30281	0.275;0.139	B;B	0.28232	0.087;0.04	T	0.19289	-1.0310	10	0.18276	T	0.48	-16.1008	12.2036	0.54340	0.0831:0.0:0.9169:0.0	.	180;120	F5GWR6;O14529	.;CUX2_HUMAN	N	120;180;58	ENSP00000261726:S120N	ENSP00000261726:S120N	S	+	2	0	CUX2	110213662	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.435000	0.66532	2.161000	0.67846	0.556000	0.70494	AGC		0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		A	111729279	G	A	111729279	3	1	11	1	0	0	0	0	1	0	0	0	4067	971	34	2	377	2	CUX2	12	111729279	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	23205746	111729279	22122616	50	876											
MSI1	4440	hgsc.bcm.edu	37	12	120795647	120795647	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr12:120795647A>T	ENST00000257552.2	-	8	594	c.506T>A	c.(505-507)aTt>aAt	p.I169N	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	169	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGAAAATGAATTTCACACAC	0.498																																																0													132	100	111					12																	120795647		2203	4300	6503	SO:0001583	missense	4440			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.506T>A	chr12.hg19:g.120795647A>T	ENSP00000257552:p.Ile169Asn		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	hg19	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.6|21.6	4.172958|4.172958	0.78452|0.78452	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000546985|ENST00000257552	.|T	.|0.74526	.|-0.85	4.83|4.83	4.83|4.83	0.62350|0.62350	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.092070	.|0.45867	.|D	.|0.000324	T|T	0.73992|0.73992	0.3658|0.3658	N|N	0.11023|0.11023	0.085|0.085	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|D	.|0.75020	.|0.985	T|T	0.79995|0.79995	-0.1568|-0.1568	5|10	.|0.72032	.|D	.|0.01	.|.	14.7048|14.7048	0.69183|0.69183	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|169	.|O43347	.|MSI1H_HUMAN	I|N	101|169	.|ENSP00000257552:I169N	.|ENSP00000257552:I169N	F|I	-|-	1|2	0|0	MSI1|MSI1	119280030|119280030	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	8.830000|8.830000	0.92063|0.92063	1.942000|1.942000	0.56320|0.56320	0.454000|0.454000	0.30748|0.30748	TTC|ATT		0.498	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		T	120795647	A	T	120795647	3	4	11	1	0	0	0	0	1	0	0	0	9877	101	4	5	610	5	MSI1	12	120795647	Missense_Mutation	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10	9066368	120795647	13056248	51	877											
PAN3	255967	hgsc.bcm.edu	37	13	28794514	28794514	+	Splice_Site	SNP	A	A	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr13:28794514A>G	ENST00000380958.3	+	6	1151	c.999A>G	c.(997-999)ccA>ccG	p.P333P	PAN3_ENST00000399613.1_Splice_Site_p.P133P	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GATTAGCGCCAGGTAAGTTGA	0.423																																																0													153	156	155					13																	28794514		2203	4300	6503	SO:0001630	splice_region_variant	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1000+1A>G	chr13.hg19:g.28794514A>G				Silent	SNP	ENST00000380958.3	hg19	CCDS9329.2																																																																																				0.423	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	Silent	G	28794514	A	G	28794514	5	3	11	1	0	0	0	0	0	0	1	0	11417	202	7	3	1021	3	PAN3	13	28794514	Splice_Site	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10		28794514	86375364	52	878											
FRY	10129	hgsc.bcm.edu	37	13	32808840	32808840	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr13:32808840T>C	ENST00000380250.3	+	42	6153	c.5657T>C	c.(5656-5658)tTa>tCa	p.L1886S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1886						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCACATGCCTTATCTGACCTT	0.517																																																0													100	97	98					13																	32808840		1988	4170	6158	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5657T>C	chr13.hg19:g.32808840T>C	ENSP00000369600:p.Leu1886Ser		Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899503	0.91962	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.41758	0.99	6.07	6.07	0.98685	.	0.072441	0.56097	D	0.000028	T	0.60170	0.2248	M	0.81112	2.525	0.80722	D	1	P	0.46512	0.879	P	0.51550	0.673	T	0.65500	-0.6153	10	0.87932	D	0	.	16.6277	0.84984	0.0:0.0:0.0:1.0	.	1886	Q5TBA9	FRY_HUMAN	S	1886;723	ENSP00000369600:L1886S	ENSP00000369600:L1886S	L	+	2	0	FRY	31706840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.841000	0.86834	2.330000	0.79161	0.528000	0.53228	TTA		0.517	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		C	32808840	T	C	32808840	3	2	11	1	0	0	0	0	1	0	0	0	6065	1764	61	3	5823	3	FRY	13	32808840	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	4014326	32808840	82361038	53	879											
SAV1	60485	hgsc.bcm.edu	37	14	51111608	51111608	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr14:51111608A>T	ENST00000324679.4	-	3	1023	c.660T>A	c.(658-660)caT>caA	p.H220Q		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	220	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TATTTGTGTTATGATCTATAT	0.433																																																0													119	110	113					14																	51111608		2203	4300	6503	SO:0001583	missense	60485			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"WW domain-containing adaptor 45"	607203	"salvador homolog 1 (Drosophila)"			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.660T>A	chr14.hg19:g.51111608A>T	ENSP00000324729:p.His220Gln		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	ENST00000324679.4	hg19	CCDS9701.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162805	0.78226	.	.	ENSG00000151748	ENST00000555720;ENST00000324679;ENST00000535862	D;D	0.84442	-1.85;-1.85	6.17	2.69	0.31865	WW/Rsp5/WWP (5);	0.000000	0.85682	D	0.000000	D	0.91971	0.7457	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90365	0.4376	10	0.87932	D	0	-19.637	8.5304	0.33331	0.5208:0.0:0.4792:0.0	.	220	Q9H4B6	SAV1_HUMAN	Q	152;220;187	ENSP00000451492:H152Q;ENSP00000324729:H220Q	ENSP00000324729:H220Q	H	-	3	2	SAV1	50181358	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.498000	0.35660	0.241000	0.21283	0.533000	0.62120	CAT		0.433	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			T	51111608	A	T	51111608	3	4	11	1	0	0	0	0	1	0	0	0	13862	446	16	5	503	5	SAV1	14	51111608	Missense_Mutation	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10		51111608	56237932	54	880											
ARHGAP11A	9824	hgsc.bcm.edu	37	15	32928491	32928491	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr15:32928491T>C	ENST00000361627.3	+	12	2239	c.1517T>C	c.(1516-1518)tTa>tCa	p.L506S	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.L317S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.L317S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	506					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAGGAAACCTTACTAACTCCA	0.363																																					Colon(45;757 1134 30003 36652)											0													54	56	55					15																	32928491		2201	4300	6501	SO:0001583	missense	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1517T>C	chr15.hg19:g.32928491T>C	ENSP00000355090:p.Leu506Ser		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	hg19	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	18.14	3.557614	0.65425	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.23348	1.91	5.86	4.75	0.60458	.	0.316141	0.22955	N	0.053611	T	0.49098	0.1537	M	0.74881	2.28	0.46028	D	0.998824	D	0.89917	1.0	D	0.81914	0.995	T	0.51655	-0.8678	10	0.87932	D	0	.	11.3555	0.49613	0.0:0.0705:0.0:0.9295	.	506	Q6P4F7	RHGBA_HUMAN	S	506;317	ENSP00000355090:L506S	ENSP00000355090:L506S	L	+	2	0	ARHGAP11A	30715783	1.000000	0.71417	0.956000	0.39512	0.776000	0.43924	5.480000	0.66820	2.226000	0.72624	0.528000	0.53228	TTA		0.363	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		C	32928491	T	C	32928491	3	2	11	1	0	0	0	0	1	0	0	0	863	1764	61	3	1586	3	ARHGAP11A	15	32928491	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10		32928491	69602901	55	881											
TP53BP1	7158	hgsc.bcm.edu	37	15	43769942	43769942	+	Silent	SNP	A	A	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr15:43769942A>C	ENST00000263801.3	-	8	1041	c.789T>G	c.(787-789)ccT>ccG	p.P263P	TP53BP1_ENST00000382044.4_Silent_p.P268P|TP53BP1_ENST00000450115.2_Silent_p.P268P|TP53BP1_ENST00000382039.3_Silent_p.P268P	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	263					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGGGGCTAAAAGGCATGTCCT	0.393								Other conserved DNA damage response genes																																								0													90	90	90					15																	43769942		2201	4298	6499	SO:0001819	synonymous_variant	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.789T>G	chr15.hg19:g.43769942A>C			F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	hg19	CCDS10096.1																																																																																				0.393	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			C	43769942	A	C	43769942	2	2	11	1	0	0	0	0	0	0	0	1	16388	59	3	5		5	TP53BP1	15	43769942	Silent	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10	10841451	43769942	58761450	56	882											
MEX3B	84206	hgsc.bcm.edu	37	15	82336360	82336360	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr15:82336360T>C	ENST00000329713.4	-	2	1286	c.851A>G	c.(850-852)tAc>tGc	p.Y284C	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	284					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GTCGTTGCGGTAGCTAGAGAA	0.677																																																0													26	33	31					15																	82336360		2197	4294	6491	SO:0001583	missense	84206			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.851A>G	chr15.hg19:g.82336360T>C	ENSP00000329918:p.Tyr284Cys		Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	hg19	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.224775	0.58668	.	.	ENSG00000183496	ENST00000329713	T	0.25414	1.8	4.53	3.38	0.38709	.	0.078776	0.53938	D	0.000055	T	0.41789	0.1174	M	0.65498	2.005	0.80722	D	1	D	0.71674	0.998	P	0.61328	0.887	T	0.25293	-1.0136	10	0.66056	D	0.02	-27.3162	8.9376	0.35708	0.2958:0.0:0.0:0.7042	.	284	Q6ZN04	MEX3B_HUMAN	C	284	ENSP00000329918:Y284C	ENSP00000329918:Y284C	Y	-	2	0	MEX3B	80123415	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.620000	0.61226	0.730000	0.32425	0.460000	0.39030	TAC		0.677	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		C	82336360	T	C	82336360	3	2	11	1	0	0	0	0	1	0	0	0	9512	1638	57	3	862	3	MEX3B	15	82336360	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	38566418	82336360	20195032	57	883											
GTF3C1	2975	hgsc.bcm.edu	37	16	27523094	27523094	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr16:27523094T>C	ENST00000356183.4	-	7	1117	c.1102A>G	c.(1102-1104)Atg>Gtg	p.M368V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.M368V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	368					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGTGTGAGCATATCCCGCTCG	0.502																																																0													200	149	166					16																	27523094		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1102A>G	chr16.hg19:g.27523094T>C	ENSP00000348510:p.Met368Val		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565410	0.65651	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22336	1.96	5.64	5.64	0.86602	.	0.138042	0.64402	D	0.000005	T	0.34454	0.0898	L	0.29908	0.895	0.41036	D	0.985195	P;D	0.63046	0.539;0.992	B;D	0.74674	0.113;0.984	T	0.06041	-1.0849	10	0.41790	T	0.15	-5.9122	15.5262	0.75910	0.0:0.0:0.0:1.0	.	368;368	Q12789;Q12789-3	TF3C1_HUMAN;.	V	368;366	ENSP00000348510:M368V	ENSP00000348510:M368V	M	-	1	0	GTF3C1	27430595	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.439000	0.59968	2.146000	0.66826	0.528000	0.53228	ATG		0.502	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		C	27523094	T	C	27523094	3	2	11	1	0	0	0	0	1	0	0	0	6874	1406	49	3	5351	3	GTF3C1	16	27523094	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10		27523094	62831659	58	884											
ZNF629	23361	hgsc.bcm.edu	37	16	30795034	30795034	+	Silent	SNP	G	G	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr16:30795034G>A	ENST00000262525.4	-	3	822	c.615C>T	c.(613-615)ccC>ccT	p.P205P		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGCACTTGTAGGGCTTCTCGC	0.652																																																0													55	58	57					16																	30795034		2197	4300	6497	SO:0001819	synonymous_variant	23361			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.615C>T	chr16.hg19:g.30795034G>A			Q15938	Silent	SNP	ENST00000262525.4	hg19	CCDS45463.1																																																																																				0.652	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		A	30795034	G	A	30795034	2	1	11	1	0	0	0	0	0	0	0	1	18058	987	35	2		2	ZNF629	16	30795034	Silent	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	3271940	30795034	59559719	59	885											
IRX6	79190	hgsc.bcm.edu	37	16	55359021	55359021	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr16:55359021T>G	ENST00000290552.7	+	1	1350	c.18T>G	c.(16-18)ttT>ttG	p.F6L	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	6					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TCCCACACTTTGGACACCCGT	0.652																																																0													57	54	55					16																	55359021		2198	4300	6498	SO:0001583	missense	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.18T>G	chr16.hg19:g.55359021T>G	ENSP00000290552:p.Phe6Leu		B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	hg19	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232797	0.79688	.	.	ENSG00000159387	ENST00000290552	D	0.92965	-3.14	5.02	-1.06	0.10002	.	0.385027	0.28606	N	0.014743	D	0.92260	0.7545	L	0.48935	1.535	0.45690	D	0.998605	D	0.71674	0.998	D	0.79784	0.993	D	0.88273	0.2931	10	0.45353	T	0.12	-11.0867	8.3205	0.32126	0.0:0.4967:0.1265:0.3768	.	6	P78412	IRX6_HUMAN	L	6	ENSP00000290552:F6L	ENSP00000290552:F6L	F	+	3	2	IRX6	53916522	0.995000	0.38212	0.992000	0.48379	0.986000	0.74619	0.251000	0.18257	-0.377000	0.07930	0.454000	0.30748	TTT		0.652	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		G	55359021	T	G	55359021	3	3	11	1	0	0	0	0	1	0	0	0	7850	1809	63	5	20	5	IRX6	16	55359021	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	24563987	55359021	34995732	60	886											
KARS	3735	hgsc.bcm.edu	37	16	75674216	75674216	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr16:75674216T>C	ENST00000302445.3	-	3	293	c.254A>G	c.(253-255)cAt>cGt	p.H85R	KARS_ENST00000319410.5_Missense_Mutation_p.H113R|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	85					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CTTCAGCTGATGAATTGCTTG	0.448																																																0													228	222	224					16																	75674216		2198	4300	6498	SO:0001583	missense	3735			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.254A>G	chr16.hg19:g.75674216T>C	ENSP00000303043:p.His85Arg		A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	hg19	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356197	0.24598	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.62232	0.04;0.04	5.72	5.72	0.89469	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.241798	0.49916	D	0.000134	T	0.51363	0.1670	L	0.34521	1.04	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.44528	-0.9322	10	0.25106	T	0.35	-17.2345	14.8506	0.70295	0.0:0.0:0.0:1.0	.	113;85	Q15046-2;Q15046	.;SYK_HUMAN	R	113;85	ENSP00000325448:H113R;ENSP00000303043:H85R	ENSP00000303043:H85R	H	-	2	0	KARS	74231717	1.000000	0.71417	0.996000	0.52242	0.123000	0.20343	4.811000	0.62606	2.189000	0.69895	0.533000	0.62120	CAT		0.448	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		C	75674216	T	C	75674216	3	2	11	1	0	0	0	0	1	0	0	0	7982	1464	51	3	1587	3	KARS	16	75674216	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	20315195	75674216	14680537	61	887											
TMEM88	92162	hgsc.bcm.edu	37	17	7758984	7758984	+	Silent	SNP	C	C	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr17:7758984C>G	ENST00000301599.6	+	2	442	c.432C>G	c.(430-432)gcC>gcG	p.A144A	CYB5D1_ENST00000571846.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|CYB5D1_ENST00000570446.1_5'Flank|TMEM88_ENST00000574668.1_Intron|LSMD1_ENST00000570555.1_5'Flank	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	144					multicellular organismal development (GO:0007275)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				AAATCCGGGCCTCACCAGGGT	0.667																																																0													8	9	9					17																	7758984		2138	4187	6325	SO:0001819	synonymous_variant	92162			BC057812	CCDS11121.1	17p13.1	2005-12-13				ENSG00000167874			32371	protein-coding gene	gene with protein product							Standard	NM_203411		Approved	MGC71744, FLJ20025	uc002giy.3	Q6PEY1		ENST00000301599.6:c.432C>G	chr17.hg19:g.7758984C>G				Silent	SNP	ENST00000301599.6	hg19	CCDS11121.1																																																																																				0.667	TMEM88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440252.1	NM_203411		G	7758984	C	G	7758984	2	3	11	1	0	0	0	0	0	0	0	1	16217	668	24	4		4	TMEM88	17	7758984	Silent	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10		7758984	73436226	62	888											
AOC2	314	hgsc.bcm.edu	37	17	41002294	41002294	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr17:41002294C>T	ENST00000253799.3	+	4	2227	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	AOC3_ENST00000308423.2_5'Flank|AOC2_ENST00000452774.2_Missense_Mutation_p.P707S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	734					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CAGCATCAATCCTGTGGCCTG	0.597																																																0													164	172	170					17																	41002294		2203	4300	6503	SO:0001583	missense	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.2200C>T	chr17.hg19:g.41002294C>T	ENSP00000253799:p.Pro734Ser		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	hg19	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	6.560	0.471616	0.12461	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03468	3.92;3.92	5.19	4.23	0.50019	Copper amine oxidase, C-terminal (1);	0.669731	0.15067	N	0.282419	T	0.03136	0.0092	N	0.19112	0.55	0.38233	D	0.941088	B;B	0.11235	0.002;0.004	B;B	0.18871	0.005;0.023	T	0.35699	-0.9778	10	0.09338	T	0.73	-35.8049	13.9375	0.64034	0.0:0.9263:0.0:0.0737	.	734;707	O75106;O75106-2	AOC2_HUMAN;.	S	734;707	ENSP00000253799:P734S;ENSP00000406134:P707S	ENSP00000253799:P734S	P	+	1	0	AOC2	38255820	0.811000	0.29063	0.992000	0.48379	0.319000	0.28217	2.760000	0.47581	1.195000	0.43115	-0.254000	0.11334	CCT		0.597	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		T	41002294	C	T	41002294	3	4	11	1	0	0	0	0	1	0	0	0	727	855	30	2	2214	2	AOC2	17	41002294	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10	33243310	41002294	40192916	63	889											
FZD2	2535	hgsc.bcm.edu	37	17	42636200	42636200	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr17:42636200G>A	ENST00000315323.3	+	1	1276	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	382					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGTGCCGGCCGTCAAGACCAT	0.672																																																0													68	68	68					17																	42636200		2203	4299	6502	SO:0001583	missense	2535			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1144G>A	chr17.hg19:g.42636200G>A	ENSP00000323901:p.Val382Ile		Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	hg19	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	10.67	1.416262	0.25552	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.83755	-1.76	5.0	5.0	0.66597	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	N	0.21373	0.66	0.47584	D	0.999468	B	0.24368	0.102	B	0.20955	0.032	T	0.69680	-0.5080	10	0.31617	T	0.26	.	17.9002	0.88901	0.0:0.0:1.0:0.0	.	382	Q14332	FZD2_HUMAN	I	458;382	ENSP00000323901:V382I	ENSP00000323901:V382I	V	+	1	0	FZD2	39991726	0.999000	0.42202	0.998000	0.56505	0.978000	0.69477	2.822000	0.48073	2.291000	0.77112	0.561000	0.74099	GTC		0.672	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		A	42636200	G	A	42636200	3	1	11	1	0	0	0	0	1	0	0	0	6132	1145	40	1	1146	1	FZD2	17	42636200	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	1633906	42636200	38559010	64	890											
CCDC45	90799	hgsc.bcm.edu	37	17	62518864	62518864	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr17:62518864delG	ENST00000556440.2	+	8	1270	c.760delG	c.(760-762)gggfs	p.G254fs	CEP95_ENST00000553412.1_Frame_Shift_Del_p.G90fs	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	254						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TAGGAAGCTAGGGGAGCCTAT	0.443																																																0													88	87	87					17																	62518864		1892	4115	6007	SO:0001589	frameshift_variant	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.760delG	chr17.hg19:g.62518864delG	ENSP00000450461:p.Gly254fs		B4DMD2|Q96M81	Frame_Shift_Del	DEL	ENST00000556440.2	hg19	CCDS45763.1																																																																																				0.443	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		-	62518864	G	-	62518864	7	5	11	1	0	1	0	1	0	0	0	0	2818	1000	35	0	790	0	CCDC45	17	62518864	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JG-01A-11D-A42J-10	19882664	62518864	18676346	65	891											
USH1G	124590	hgsc.bcm.edu	37	17	72919094	72919094	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr17:72919094delC	ENST00000319642.1	-	1	257	c.75delG	c.(73-75)ctgfs	p.L25fs	OTOP2_ENST00000580223.1_5'Flank|OTOP2_ENST00000331427.4_5'Flank	NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	25					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGGGGGCATTCAGCTCCTTTC	0.667																																																0													31	24	27					17																	72919094		2191	4292	6483	SO:0001589	frameshift_variant	124590			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.75delG	chr17.hg19:g.72919094delC	ENSP00000320076:p.Leu25fs		Q8N251	Frame_Shift_Del	DEL	ENST00000319642.1	hg19	CCDS32725.1																																																																																				0.667	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		-	72919094	C	-	72919094	7	5	11	1	0	1	0	1	0	0	0	0	17040	813	29	0	1322	0	USH1G	17	72919094	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JG-01A-11D-A42J-10	10400230	72919094	8276116	66	892											
MYL12A	10627	hgsc.bcm.edu	37	18	3254019	3254019	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr18:3254019C>T	ENST00000217652.3	+	3	709	c.314C>T	c.(313-315)gCc>gTc	p.A105V	MYL12A_ENST00000536605.1_Missense_Mutation_p.A105V|RP13-270P17.1_ENST00000578800.1_RNA|RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000580887.1_Missense_Mutation_p.A111V|MYL12A_ENST00000578611.1_Missense_Mutation_p.A105V|MYL12A_ENST00000579226.1_Missense_Mutation_p.A105V	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	105	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						ATCAGAAATGCCTTTGCTTGC	0.368																																																0													91	83	86					18																	3254019		2203	4300	6503	SO:0001583	missense	10627			X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"Myosins / Light chain", "EF-hand domain containing"	16701	protein-coding gene	gene with protein product	"myosin regulatory light chain 3"		"myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.314C>T	chr18.hg19:g.3254019C>T	ENSP00000217652:p.Ala105Val		Q53X45	Missense_Mutation	SNP	ENST00000217652.3	hg19	CCDS11830.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564221	0.86335	.	.	ENSG00000101608	ENST00000217652;ENST00000536605	D;D	0.81996	-1.56;-1.56	5.42	5.42	0.78866	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88040	0.6330	M	0.90705	3.14	0.80722	D	1	B;B	0.29886	0.26;0.26	B;B	0.33295	0.161;0.161	D	0.87864	0.2666	10	0.72032	D	0.01	.	19.4096	0.94665	0.0:1.0:0.0:0.0	.	105;105	Q53X45;P19105	.;ML12A_HUMAN	V	105	ENSP00000217652:A105V;ENSP00000441231:A105V	ENSP00000217652:A105V	A	+	2	0	MYL12A	3244019	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.651000	0.83577	2.817000	0.96982	0.563000	0.77884	GCC		0.368	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254364.2	NM_006471		T	3254019	C	T	3254019	3	4	11	1	0	0	0	0	1	0	0	0	10047	739	26	2	320	2	MYL12A	18	3254019	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10		3254019	74823229	67	893											
LAMA1	284217	hgsc.bcm.edu	37	18	7016662	7016662	+	Silent	SNP	A	A	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr18:7016662A>G	ENST00000389658.3	-	21	2910	c.2817T>C	c.(2815-2817)taT>taC	p.Y939Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	939	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCAGCCCATAATAGCCATGCT	0.517																																																0													35	28	30					18																	7016662		2203	4300	6503	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2817T>C	chr18.hg19:g.7016662A>G				Silent	SNP	ENST00000389658.3	hg19	CCDS32787.1																																																																																				0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	7016662	A	G	7016662	2	3	11	1	0	0	0	0	0	0	0	1	8607	108	4	3		3	LAMA1	18	7016662	Silent	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10	3762643	7016662	71060586	68	894											
ROCK1	6093	hgsc.bcm.edu	37	18	18600173	18600174	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr18:18600173_18600174delTA	ENST00000399799.2	-	12	2239_2240	c.1299_1300delTA	c.(1297-1302)tataagfs	p.YK433fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	433	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCTTCCAGCTTATAGATTGTTT	0.267																																																0																																										SO:0001589	frameshift_variant	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1299_1300delTA	chr18.hg19:g.18600175_18600176delTA	ENSP00000382697:p.Tyr433fs		B0YJ91|Q2KHM4|Q59GZ4	Frame_Shift_Del	DEL	ENST00000399799.2	hg19	CCDS11870.2																																																																																				0.267	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		-	18600174	TA	-	18600173	7	5	11	1	0	1	0	1	0	0	0	0	13523	1763	61	0	2852	0	ROCK1	18	18600173	Frame_Shift_Del	DEL	TA	TCGA-2Z-A9JG-01A-11D-A42J-10	11583511	18600173	59477075	69	895											
DUS3L	56931	hgsc.bcm.edu	37	19	5786483	5786483	+	Silent	SNP	A	A	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr19:5786483A>T	ENST00000309061.7	-	10	1653	c.1557T>A	c.(1555-1557)atT>atA	p.I519I	PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank|DUS3L_ENST00000320699.8_Silent_p.I277I	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	519							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTTACCGGGCAATCATGATCC	0.582																																																0													109	77	88					19																	5786483		2203	4299	6502	SO:0001819	synonymous_variant	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1557T>A	chr19.hg19:g.5786483A>T			Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Silent	SNP	ENST00000309061.7	hg19	CCDS32880.1																																																																																				0.582	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		T	5786483	A	T	5786483	2	4	11	1	0	0	0	0	0	0	0	1	4809	126	5	5		5	DUS3L	19	5786483	Silent	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10		5786483	53342500	70	896											
ZNF565	147929	hgsc.bcm.edu	37	19	36674230	36674230	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr19:36674230T>A	ENST00000355114.5	-	5	1484	c.758A>T	c.(757-759)cAt>cTt	p.H253L	ZNF565_ENST00000392173.2_Missense_Mutation_p.H213L|ZNF565_ENST00000304116.5_Missense_Mutation_p.H213L			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AATTCTCTGATGCTGAACAAG	0.443																																																0													74	67	69					19																	36674230		2203	4300	6503	SO:0001583	missense	147929			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.758A>T	chr19.hg19:g.36674230T>A	ENSP00000347234:p.His253Leu		B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	hg19		.	.	.	.	.	.	.	.	.	.	t	19.57	3.852244	0.71719	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	D;D;D	0.86865	-2.18;-2.18;-2.18	4.33	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.177862	0.27473	N	0.019217	D	0.94689	0.8287	H	0.97682	4.055	0.34458	D	0.701394	D	0.89917	1.0	D	0.66602	0.945	D	0.96372	0.9274	10	0.87932	D	0	.	9.2445	0.37518	0.0:0.0:0.181:0.819	.	213	Q8N9K5	ZN565_HUMAN	L	213;213;253	ENSP00000376013:H213L;ENSP00000306869:H213L;ENSP00000347234:H253L	ENSP00000306869:H213L	H	-	2	0	ZNF565	41366070	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.769000	0.55303	1.955000	0.56771	0.456000	0.33151	CAT		0.443	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		A	36674230	T	A	36674230	3	1	11	1	0	0	0	0	1	0	0	0	18001	1464	51	5	865	5	ZNF565	19	36674230	Missense_Mutation	SNP	T	TCGA-2Z-A9JG-01A-11D-A42J-10	30887747	36674230	22454753	71	897											
ZNF540	163255	hgsc.bcm.edu	37	19	38102608	38102609	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr19:38102608_38102609delAA	ENST00000592533.1	+	5	759_760	c.427_428delAA	c.(427-429)aaafs	p.K143fs	ZNF540_ENST00000343599.5_Frame_Shift_Del_p.K143fs|ZNF540_ENST00000586792.1_3'UTR|ZNF540_ENST00000316433.4_Frame_Shift_Del_p.K143fs|ZNF540_ENST00000589117.1_Frame_Shift_Del_p.K111fs	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	143					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGTCAAAAGAAAATCGTCTCT	0.366																																																0																																										SO:0001589	frameshift_variant	163255			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.427_428delAA	chr19.hg19:g.38102610_38102611delAA	ENSP00000466274:p.Lys143fs		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Frame_Shift_Del	DEL	ENST00000592533.1	hg19	CCDS12506.1																																																																																				0.366	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		-	38102609	AA	-	38102608	7	5	11	1	0	1	0	1	0	0	0	0	17980	247	9	0	441	0	ZNF540	19	38102608	Frame_Shift_Del	DEL	AA	TCGA-2Z-A9JG-01A-11D-A42J-10	1428378	38102608	21026375	72	898											
MYH14	79784	hgsc.bcm.edu	37	19	50747513	50747513	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr19:50747513G>A	ENST00000596571.1	+	9	1105	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	MYH14_ENST00000376970.2_Missense_Mutation_p.V369I|MYH14_ENST00000440075.2_Missense_Mutation_p.V377I|MYH14_ENST00000262269.8_Missense_Mutation_p.V377I|MYH14_ENST00000601313.1_Missense_Mutation_p.V377I|MYH14_ENST00000425460.1_Missense_Mutation_p.V377I|MYH14_ENST00000598205.1_Missense_Mutation_p.V377I			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	369	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTGCGGATGGTCTCAGCAGT	0.552																																																0													84	89	87					19																	50747513		2125	4242	6367	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1105G>A	chr19.hg19:g.50747513G>A	ENSP00000472819:p.Val369Ile		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	hg19	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	8.469	0.857136	0.17106	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	3.42	2.37	0.29283	Myosin head, motor domain (2);	.	.	.	.	D	0.82829	0.5122	L	0.42632	1.34	0.49582	D	0.999809	P;B;B	0.37864	0.61;0.198;0.063	B;B;B	0.36666	0.23;0.056;0.028	T	0.79492	-0.1781	9	0.41790	T	0.15	.	9.1808	0.37141	0.1121:0.0:0.8879:0.0	.	377;369;377	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	I	369;377;369;377;369;377	ENSP00000406273:V377I;ENSP00000366169:V369I;ENSP00000407879:V377I;ENSP00000262269:V377I	ENSP00000262269:V377I	V	+	1	0	MYH14	55439325	1.000000	0.71417	0.354000	0.25760	0.137000	0.21094	2.140000	0.42159	1.017000	0.39495	0.462000	0.41574	GTC		0.552	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		A	50747513	G	A	50747513	3	1	11	1	0	0	0	0	1	0	0	0	10035	1261	44	2	1167	2	MYH14	19	50747513	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	12644905	50747513	8381470	73	899											
PTPRT	11122	hgsc.bcm.edu	37	20	40713469	40713469	+	Missense_Mutation	SNP	C	C	T	rs528913627		TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr20:40713469C>T	ENST00000373187.1	-	29	3988	c.3989G>A	c.(3988-3990)cGt>cAt	p.R1330H	PTPRT_ENST00000373193.3_Missense_Mutation_p.R1333H|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1340H|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1329H|PTPRT_ENST00000373198.4_Missense_Mutation_p.R1349H|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1339H|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1320H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1330	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGGACTATACGATAACCATC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20626	0.0		0.001	False		,,,				2504	0.0															0													61	66	65					20																	40713469		2077	4194	6271	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3989G>A	chr20.hg19:g.40713469C>T	ENSP00000362283:p.Arg1330His		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	hg19	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441039	0.96168	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	L	0.49640	1.575	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66716	0.944;0.946	T	0.00800	-1.1561	10	0.46703	T	0.11	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	1352;1330	O14522-1;O14522	.;PTPRT_HUMAN	H	1329;1330;1333;1339;1352;1340;1320	ENSP00000362286:R1329H;ENSP00000362283:R1330H;ENSP00000362289:R1333H;ENSP00000348408:R1339H;ENSP00000362294:R1352H;ENSP00000362280:R1340H;ENSP00000362297:R1320H	ENSP00000348408:R1339H	R	-	2	0	PTPRT	40146883	0.995000	0.38212	0.990000	0.47175	0.981000	0.71138	3.067000	0.50010	2.894000	0.99253	0.655000	0.94253	CGT		0.587	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			T	40713469	C	T	40713469	3	4	11	1	0	0	0	0	1	0	0	0	12818	536	19	1	348	1	PTPRT	20	40713469	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10		40713469	22312051	74	900											
PARD6B	84612	hgsc.bcm.edu	37	20	49354557	49354557	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr20:49354557A>C	ENST00000371610.2	+	2	473	c.230A>C	c.(229-231)aAt>aCt	p.N77T	PARD6B_ENST00000396039.1_Missense_Mutation_p.N77T	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	77	OPR.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AATGATGATAATTATCACAAA	0.338																																																0													82	79	80					20																	49354557		2203	4300	6503	SO:0001583	missense	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.230A>C	chr20.hg19:g.49354557A>C	ENSP00000360672:p.Asn77Thr		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	hg19	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883714	0.72410	.	.	ENSG00000124171	ENST00000371610;ENST00000396039	T;T	0.23552	1.9;1.9	6.17	5.08	0.68730	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.57849	-0.7740	10	0.87932	D	0	-43.1371	11.3759	0.49728	0.9302:0.0:0.0698:0.0	.	77	Q9BYG5	PAR6B_HUMAN	T	77	ENSP00000360672:N77T;ENSP00000379354:N77T	ENSP00000360672:N77T	N	+	2	0	PARD6B	48787964	1.000000	0.71417	0.830000	0.32933	0.794000	0.44872	8.920000	0.92779	1.160000	0.42584	0.533000	0.62120	AAT		0.338	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		C	49354557	A	C	49354557	3	2	11	1	0	0	0	0	1	0	0	0	11448	101	4	5	236	5	PARD6B	20	49354557	Missense_Mutation	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10	8641088	49354557	13670963	75	901											
KRTAP27-1	643812	hgsc.bcm.edu	37	21	31709386	31709386	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr21:31709386C>A	ENST00000382835.2	-	1	626	c.601G>T	c.(601-603)Ggt>Tgt	p.G201C		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	201						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						AATTGAGAACCACCAGTAACA	0.408																																																0													66	64	65					21																	31709386		2203	4300	6503	SO:0001583	missense	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.601G>T	chr21.hg19:g.31709386C>A	ENSP00000372286:p.Gly201Cys			Missense_Mutation	SNP	ENST00000382835.2	hg19	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727069	0.48833	.	.	ENSG00000206107	ENST00000382835	T	0.60920	0.15	4.13	4.13	0.48395	.	0.307763	0.20789	U	0.085656	T	0.72195	0.3430	M	0.65975	2.015	0.40737	D	0.982795	D	0.89917	1.0	D	0.97110	1.0	T	0.75172	-0.3411	10	0.87932	D	0	-10.8309	12.1805	0.54210	0.0:1.0:0.0:0.0	.	201	Q3LI81	KR271_HUMAN	C	201	ENSP00000372286:G201C	ENSP00000372286:G201C	G	-	1	0	KRTAP27-1	30631257	1.000000	0.71417	0.999000	0.59377	0.511000	0.34104	2.904000	0.48719	2.586000	0.87340	0.484000	0.47621	GGT		0.408	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		A	31709386	C	A	31709386	3	1	11	1	0	0	0	0	1	0	0	0	8546	594	21	4	26	4	KRTAP27-1	21	31709386	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10		31709386	16420509	76	902											
BCL2L13	23786	hgsc.bcm.edu	37	22	18138483	18138483	+	Silent	SNP	G	G	C	rs144712899	byFrequency	TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr22:18138483G>C	ENST00000317582.5	+	2	353	c.6G>C	c.(4-6)gcG>gcC	p.A2A	BCL2L13_ENST00000355028.3_Silent_p.A2A|BCL2L13_ENST00000493680.1_Silent_p.A2A|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000538149.1_5'UTR|BCL2L13_ENST00000399782.1_Silent_p.A2A|BCL2L13_ENST00000418951.2_Silent_p.A2A	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	2					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		ATTCAATGGCGTCCTCTTCTA	0.393																																																0													131	119	123					22																	18138483		2203	4300	6503	SO:0001819	synonymous_variant	23786			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.6G>C	chr22.hg19:g.18138483G>C			B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Silent	SNP	ENST00000317582.5	hg19	CCDS13746.1																																																																																				0.393	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		C	18138483	G	C	18138483	2	2	11	1	0	0	0	0	0	0	0	1	1371	1132	40	4		4	BCL2L13	22	18138483	Silent	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10		18138483	33166083	77	903											
RANBP1	5902	hgsc.bcm.edu	37	22	20109854	20109854	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr22:20109854G>T	ENST00000331821.3	+	3	322	c.220G>T	c.(220-222)Gac>Tac	p.D74Y	RANBP1_ENST00000402752.1_Missense_Mutation_p.D74Y|RANBP1_ENST00000430524.1_5'UTR	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1	74	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|positive regulation of mitotic centrosome separation (GO:0046604)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|spindle organization (GO:0007051)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Ran GTPase binding (GO:0008536)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					AGGCACTGGTGACGTCAAGCT	0.552																																																0													77	67	71					22																	20109854		2203	4300	6503	SO:0001583	missense	5902			D38076	CCDS13775.1, CCDS63408.1, CCDS74823.1	22q11.21	2008-06-16			ENSG00000099901	ENSG00000099901			9847	protein-coding gene	gene with protein product		601180				7616957, 10330396	Standard	NM_001278639		Approved	HTF9A	uc002zro.1	P43487	OTTHUMG00000150490	ENST00000331821.3:c.220G>T	chr22.hg19:g.20109854G>T	ENSP00000327583:p.Asp74Tyr		Q53EY3	Missense_Mutation	SNP	ENST00000331821.3	hg19	CCDS13775.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848424	0.91277	.	.	ENSG00000099901	ENST00000432879;ENST00000402752;ENST00000447917;ENST00000331821;ENST00000411892;ENST00000416427;ENST00000421656;ENST00000423859;ENST00000418705	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.53	5.53	0.82687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	M	0.87038	2.855	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.994	D;D;D	0.70935	0.923;0.971;0.954	T	0.78685	-0.2108	10	0.87932	D	0	-53.8354	19.4537	0.94878	0.0:0.0:1.0:0.0	.	74;74;74	B4DE76;Q53EY3;P43487	.;.;RANG_HUMAN	Y	151;74;74;74;74;24;24;24;24	ENSP00000404724:D151Y;ENSP00000384925:D74Y;ENSP00000327583:D74Y;ENSP00000395472:D74Y;ENSP00000404126:D24Y;ENSP00000400940:D24Y;ENSP00000404298:D24Y;ENSP00000413502:D24Y	ENSP00000327583:D74Y	D	+	1	0	RANBP1	18489854	1.000000	0.71417	0.376000	0.26042	0.865000	0.49528	9.618000	0.98365	2.606000	0.88127	0.563000	0.77884	GAC		0.552	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343733.1	NM_002882		T	20109854	G	T	20109854	3	4	11	1	0	0	0	0	1	0	0	0	13031	1290	45	4	230	4	RANBP1	22	20109854	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10	1971371	20109854	31194712	78	904											
CSNK1E	1454	hgsc.bcm.edu	37	22	38690505	38690505	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr22:38690505C>G	ENST00000396832.1	-	8	1181	c.921G>C	c.(919-921)gaG>gaC	p.E307D	CSNK1E_ENST00000359867.3_Missense_Mutation_p.E307D|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000403904.1_Missense_Mutation_p.E307D|CSNK1E_ENST00000400206.2_Missense_Mutation_p.E307D	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	307					cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GTTCTCGCCGCTCCCGGTCCA	0.706																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)											0													15	11	12					22																	38690505		2191	4283	6474	SO:0001583	missense	1454				CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.921G>C	chr22.hg19:g.38690505C>G	ENSP00000380044:p.Glu307Asp			Missense_Mutation	SNP	ENST00000396832.1	hg19	CCDS13970.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.10|17.10|17.10	3.303339|3.303339|3.303339	0.60195|0.60195|0.60195	.|.|.	.|.|.	ENSG00000213923|ENSG00000213923|ENSG00000213923	ENST00000431632|ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904|ENST00000366216	.|T;T;T;T|.	.|0.56611|.	.|0.45;0.45;0.45;0.45|.	5.56|5.56|5.56	2.28|2.28|2.28	0.28536|0.28536|0.28536	.|.|.	.|0.045920|.	.|0.85682|.	.|N|.	.|0.000000|.	T|T|T	0.50752|0.50752|0.50752	0.1634|0.1634|0.1634	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.46044|0.46044|0.46044	D|D|D	0.998836|0.998836|0.998836	.|B|.	.|0.02656|.	.|0.0|.	.|B|.	.|0.08055|.	.|0.003|.	T|T|T	0.31392|0.31392|0.31392	-0.9945|-0.9945|-0.9945	5|10|5	.|0.16896|.	.|T|.	.|0.51|.	.|.|.	9.1766|9.1766|9.1766	0.37116|0.37116|0.37116	0.0:0.7182:0.0:0.2818|0.0:0.7182:0.0:0.2818|0.0:0.7182:0.0:0.2818	.|.|.	.|307|.	.|P49674|.	.|KC1E_HUMAN|.	P|D|T	35|307|10	.|ENSP00000352929:E307D;ENSP00000380044:E307D;ENSP00000383067:E307D;ENSP00000384074:E307D|.	.|ENSP00000352929:E307D|.	A|E|S	-|-|-	1|3|2	0|2|0	CSNK1E|CSNK1E|CSNK1E	37020451|37020451|37020451	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.575000|0.575000|0.575000	0.36095|0.36095|0.36095	1.803000|1.803000|1.803000	0.38863|0.38863|0.38863	0.286000|0.286000|0.286000	0.22352|0.22352|0.22352	-0.142000|-0.142000|-0.142000	0.14014|0.14014|0.14014	GCG|GAG|AGC		0.706	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		G	38690505	C	G	38690505	3	3	11	1	0	0	0	0	1	0	0	0	3955	796	28	4	341	4	CSNK1E	22	38690505	Missense_Mutation	SNP	C	TCGA-2Z-A9JG-01A-11D-A42J-10	18580651	38690505	12614061	79	905											
MOV10L1	54456	hgsc.bcm.edu	37	22	50591546	50591546	+	Silent	SNP	A	A	C	rs529208457		TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chr22:50591546A>C	ENST00000262794.5	+	22	3048	c.2965A>C	c.(2965-2967)Agg>Cgg	p.R989R	MOV10L1_ENST00000540615.1_Silent_p.R969R|MOV10L1_ENST00000395843.1_Silent_p.R32R|MOV10L1_ENST00000395852.1_Silent_p.R116R|MOV10L1_ENST00000545383.1_Silent_p.R989R|MOV10L1_ENST00000354853.2_Silent_p.R32R|MOV10L1_ENST00000395858.3_Silent_p.R989R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	989					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTTCTACCACAGGGAACTCGA	0.587																																																0													178	170	172					22																	50591546		2203	4300	6503	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2965A>C	chr22.hg19:g.50591546A>C			A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	hg19	CCDS14084.1																																																																																				0.587	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		C	50591546	A	C	50591546	2	2	11	1	0	0	0	0	0	0	0	1	9721	179	7	5		5	MOV10L1	22	50591546	Silent	SNP	A	TCGA-2Z-A9JG-01A-11D-A42J-10	11901041	50591546	713020	80	906											
DCAF8L2	347442	hgsc.bcm.edu	37	X	27765728	27765728	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chrX:27765728G>A	ENST00000451261.2	+	5	1115	c.716G>A	c.(715-717)cGt>cAt	p.R239H		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	239										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TTTAACCAGCGTGGCACCCGG	0.537																																																0													91	69	76					X																	27765728		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.716G>A	chrX.hg19:g.27765728G>A	ENSP00000462745:p.Arg239His		B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	hg19	CCDS59162.1																																																																																				0.537	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		A	27765728	G	A	27765728	3	1	11	1	0	0	0	0	1	0	0	0	4280	1145	40	1	718	1	DCAF8L2	23	27765728	Missense_Mutation	SNP	G	TCGA-2Z-A9JG-01A-11D-A42J-10		27765728	127504832	81	907											
PHF16	9767	hgsc.bcm.edu	37	X	46918210	46918210	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JG-01A-11D-A42J-10	TCGA-2Z-A9JG-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7c8dab16-b1ab-45d2-b73f-239d8a74c8c3	c6173f98-c359-458d-a604-779cc45d612f	g.chrX:46918210delA	ENST00000218343.4	+	11	2501	c.2203delA	c.(2203-2205)aagfs	p.K735fs	PHF16_ENST00000397189.1_Frame_Shift_Del_p.K735fs	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GTGCTATGTGAAGCCAACCAA	0.488																																																0													56	50	52					X																	46918210		2203	4300	6503	SO:0001589	frameshift_variant	9767																														ENST00000218343.4:c.2203delA	chrX.hg19:g.46918210delA	ENSP00000218343:p.Lys735fs			Frame_Shift_Del	DEL	ENST00000218343.4	hg19	CCDS14271.1																																																																																				0.488	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			-	46918210	A	-	46918210	7	5	11	1	0	1	0	1	0	0	0	0	11829	247	9	0	2241	0	PHF16	23	46918210	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JG-01A-11D-A42J-10	19152482	46918210	108352350	82	908											
WDR64	128025	hgsc.bcm.edu	37	1	241959614	241959614	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr1:241959614A>G	ENST00000366552.2	+	26	3311	c.3104A>G	c.(3103-3105)aAg>aGg	p.K1035R	WDR64_ENST00000437684.2_Missense_Mutation_p.K868R	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1035										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAAGCCCAAAAGGACTCTTCA	0.408																																																0													107	99	101					1																	241959614		2203	4300	6503	SO:0001583	missense	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3104A>G	chr1.hg19:g.241959614A>G	ENSP00000355510:p.Lys1035Arg		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.601|4.601	0.111704|0.111704	0.08831|0.08831	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.39406|.	1.2;1.08;1.08|.	5.22|5.22	-5.72|-5.72	0.02406|0.02406	.|.	0.578909|.	0.16512|.	N|.	0.211202|.	T|T	0.15176|0.15176	0.0366|0.0366	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.08055|.	0.003;0.0|.	T|T	0.33266|0.33266	-0.9875|-0.9875	10|5	0.11794|.	T|.	0.64|.	-0.7601|-0.7601	8.4526|8.4526	0.32880|0.32880	0.6919:0.0:0.1815:0.1266|0.6919:0.0:0.1815:0.1266	.|.	1035;588|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	R|G	1035;868;639|514	ENSP00000355510:K1035R;ENSP00000402446:K868R;ENSP00000406656:K639R|.	ENSP00000355510:K1035R|.	K|R	+|+	2|1	0|2	WDR64|WDR64	240026237|240026237	0.540000|0.540000	0.26410|0.26410	0.074000|0.074000	0.20217|0.20217	0.023000|0.023000	0.10783|0.10783	-0.383000|-0.383000	0.07398|0.07398	-0.978000|-0.978000	0.03533|0.03533	-0.376000|-0.376000	0.06991|0.06991	AAG|AGG		0.408	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		G	241959614	A	G	241959614	3	3	12	1	0	0	0	0	1	0	0	0	17320	72	3	3	3206	3	WDR64	1	241959614	Missense_Mutation	SNP	A	TCGA-2Z-A9JI-01A-11D-A42J-10		241959614	7291007	1	909											
MARCO	8685	hgsc.bcm.edu	37	2	119727691	119727691	+	Splice_Site	SNP	T	T	A			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr2:119727691T>A	ENST00000327097.4	+	3	336	c.201T>A	c.(199-201)gtT>gtA	p.V67V	MARCO_ENST00000541757.1_De_novo_Start_InFrame	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	67					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGCCCAGTTCTGAATCTGC	0.542																																					GBM(8;18 374 7467 11269 32796)											0													57	67	63					2																	119727691		2201	4300	6501	SO:0001630	splice_region_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.200-1T>A	chr2.hg19:g.119727691T>A			B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	hg19	CCDS2124.1																																																																																				0.542	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	Silent	A	119727691	T	A	119727691	5	1	12	1	0	0	0	0	0	0	1	0	9313	1797	62	5	211	5	MARCO	2	119727691	Splice_Site	SNP	T	TCGA-2Z-A9JI-01A-11D-A42J-10		119727691	123471682	2	910											
EIF4G1	1981	hgsc.bcm.edu	37	3	184035257	184035257	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr3:184035257C>T	ENST00000346169.2	+	5	567	c.296C>T	c.(295-297)tCc>tTc	p.S99F	EIF4G1_ENST00000434061.2_5'Flank|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S106F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S59F|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S99F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S12F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S99F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S12F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S106F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S59F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S106F|EIF4G1_ENST00000441154.1_5'Flank	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	99					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCCAGCCTCCCAGGGGGCC	0.612																																																0													47	53	51					3																	184035257		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.296C>T	chr3.hg19:g.184035257C>T	ENSP00000316879:p.Ser99Phe		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539596	0.85917	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000455679;ENST00000440448;ENST00000352767;ENST00000427141;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37411	1.98;1.98;1.2;1.98;1.98;1.98;1.2;1.2;1.98;1.2;1.2;1.98;1.98;1.98;1.2;1.98	5.08	4.16	0.48862	.	0.514295	0.20823	N	0.085028	T	0.31702	0.0805	L	0.43152	1.355	0.54753	D	0.999989	P;P;P	0.41947	0.766;0.766;0.766	B;B;B	0.37198	0.243;0.243;0.243	T	0.28808	-1.0032	10	0.56958	D	0.05	-13.2414	15.7036	0.77560	0.0:0.8635:0.1365:0.0	.	106;99;99	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	F	99;59;12;99;106;106;59;99;106;66;12;99;99;106;59;59	ENSP00000316879:S99F;ENSP00000391935:S59F;ENSP00000376320:S12F;ENSP00000391412:S99F;ENSP00000413159:S106F;ENSP00000371767:S106F;ENSP00000415842:S59F;ENSP00000407240:S99F;ENSP00000338020:S106F;ENSP00000411214:S66F;ENSP00000407682:S12F;ENSP00000343450:S99F;ENSP00000323737:S99F;ENSP00000416255:S106F;ENSP00000415943:S59F;ENSP00000395974:S59F	ENSP00000323737:S99F	S	+	2	0	EIF4G1	185517951	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.833000	0.55790	2.640000	0.89533	0.655000	0.94253	TCC		0.612	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		T	184035257	C	T	184035257	3	4	12	1	0	0	0	0	1	0	0	0	5038	855	30	2	306	2	EIF4G1	3	184035257	Missense_Mutation	SNP	C	TCGA-2Z-A9JI-01A-11D-A42J-10		184035257	13987173	3	911											
ETV1	2115	hgsc.bcm.edu	37	7	13946127	13946127	+	Silent	SNP	A	A	G			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr7:13946127A>G	ENST00000430479.1	-	12	1705	c.1038T>C	c.(1036-1038)gaT>gaC	p.D346D	ETV1_ENST00000242066.5_Silent_p.D328D|ETV1_ENST00000405358.4_Silent_p.D360D|ETV1_ENST00000405218.2_Silent_p.D346D|ETV1_ENST00000399357.3_Silent_p.D243D|ETV1_ENST00000403685.1_Silent_p.D328D|ETV1_ENST00000403527.1_Silent_p.D306D|ETV1_ENST00000343495.5_Silent_p.D328D|ETV1_ENST00000420159.2_Silent_p.D288D|ETV1_ENST00000405192.2_Silent_p.D323D	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	346					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTGAAGGGTCATCCAGAAGAG	0.433			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																		Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	0													69	70	69					7																	13946127		1894	4131	6025	SO:0001819	synonymous_variant	2115				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1038T>C	chr7.hg19:g.13946127A>G			A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	hg19	CCDS55088.1																																																																																				0.433	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		G	13946127	A	G	13946127	2	3	12	1	0	0	0	0	0	0	0	1	5279	214	8	3		3	ETV1	7	13946127	Silent	SNP	A	TCGA-2Z-A9JI-01A-11D-A42J-10		13946127	145192536	4	912											
AP3M1	26985	hgsc.bcm.edu	37	10	75889698	75889698	+	Silent	SNP	T	T	C			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr10:75889698T>C	ENST00000355264.4	-	5	947	c.636A>G	c.(634-636)ctA>ctG	p.L212L	AP3M1_ENST00000372745.1_Silent_p.L212L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	212	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GCATTCCAGATAGTTTAATGC	0.358																																																0													133	125	128					10																	75889698		2203	4300	6503	SO:0001819	synonymous_variant	26985			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.636A>G	chr10.hg19:g.75889698T>C			Q5JQ12|Q9H5L2	Silent	SNP	ENST00000355264.4	hg19	CCDS7342.1																																																																																				0.358	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			C	75889698	T	C	75889698	2	2	12	1	0	0	0	0	0	0	0	1	747	1393	49	3		3	AP3M1	10	75889698	Silent	SNP	T	TCGA-2Z-A9JI-01A-11D-A42J-10		75889698	59645049	5	913											
IFITM3	10410	hgsc.bcm.edu	37	11	320733	320733	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr11:320733G>C	ENST00000399808.4	-	1	317	c.81C>G	c.(79-81)caC>caG	p.H27Q	RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.H6Q|RP11-326C3.11_ENST00000508004.2_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.H6Q|RP11-326C3.11_ENST00000602429.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	27					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCCACCTCGTGCTCCTCCT	0.617																																																0													92	104	100					11																	320733		1948	4127	6075	SO:0001583	missense	10410			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"interferon induced transmembrane protein 3 (1-8U)"			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.81C>G	chr11.hg19:g.320733G>C	ENSP00000382707:p.His27Gln		Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	hg19	CCDS41585.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973443	0.34848	.	.	ENSG00000142089	ENST00000399808;ENST00000270031;ENST00000526811	T;T	0.77877	-0.81;-1.13	4.61	-4.17	0.03857	.	0.761271	0.10830	U	0.629401	T	0.59985	0.2234	L	0.46885	1.475	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.47315	-0.9127	10	0.09590	T	0.72	-2.442	3.6745	0.08287	0.4606:0.0:0.2595:0.2799	.	27	Q01628	IFM3_HUMAN	Q	27;11;6	ENSP00000382707:H27Q;ENSP00000432108:H6Q	ENSP00000372047:H11Q	H	-	3	2	IFITM3	310733	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	-3.370000	0.00494	-0.556000	0.06134	0.461000	0.40582	CAC		0.617	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		C	320733	G	C	320733	3	2	12	1	0	0	0	0	1	0	0	0	7530	1136	40	4	328	4	IFITM3	11	320733	Missense_Mutation	SNP	G	TCGA-2Z-A9JI-01A-11D-A42J-10		320733	134685783	6	914											
KRTAP5-4	387267	hgsc.bcm.edu	37	11	1643084	1643085	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr11:1643084_1643085insC	ENST00000399682.1	-	1	283_284	c.239_240insG	c.(238-240)ggcfs	p.G80fs		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGAGCCATAGCCCCCCTTGGA	0.658																																																0																																										SO:0001589	frameshift_variant	387267			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.240dupG	chr11.hg19:g.1643090_1643090dupC	ENSP00000382590:p.Gly80fs			Frame_Shift_Ins	INS	ENST00000399682.1	hg19																																																																																					0.658	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		C	1643085	-	C	1643084	7	5	12	1	0	1	1	0	0	0	0	0	8565	958	34	0	450	0	KRTAP5-4	11	1643084	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JI-01A-11D-A42J-10	1322351	1643084	133363432	7	915											
RNF10	9921	hgsc.bcm.edu	37	12	121013657	121013657	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr12:121013657C>T	ENST00000325954.4	+	16	2724	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C	RNF10_ENST00000413266.2_Missense_Mutation_p.R760C|RNF10_ENST00000542701.1_3'UTR	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	755					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATTCAGACCGTGTTCCTGT	0.453																																																0													183	188	186					12																	121013657		2203	4300	6503	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2263C>T	chr12.hg19:g.121013657C>T	ENSP00000322242:p.Arg755Cys		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	hg19	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691846	0.68271	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000538254	D;D	0.89810	-2.57;-2.56	5.39	5.39	0.77823	.	0.219513	0.48767	D	0.000176	D	0.91002	0.7170	L	0.55481	1.735	0.80722	D	1	D;D	0.62365	0.991;0.979	P;B	0.52424	0.698;0.42	D	0.91486	0.5208	10	0.59425	D	0.04	.	19.1841	0.93635	0.0:1.0:0.0:0.0	.	760;755	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	C	755;755;760;90	ENSP00000322242:R755C;ENSP00000415682:R760C	ENSP00000322242:R755C	R	+	1	0	RNF10	119498040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.590000	0.67530	2.537000	0.85549	0.655000	0.94253	CGT		0.453	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			T	121013657	C	T	121013657	3	4	12	1	0	0	0	0	1	0	0	0	13428	652	23	1	2325	1	RNF10	12	121013657	Missense_Mutation	SNP	C	TCGA-2Z-A9JI-01A-11D-A42J-10		121013657	12838238	8	916											
ZNF268	10795	hgsc.bcm.edu	37	12	133764464	133764464	+	Missense_Mutation	SNP	C	C	T	rs200829573		TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr12:133764464C>T	ENST00000536435.2	+	3	370	c.40C>T	c.(40-42)Cct>Tct	p.P14S	ZNF268_ENST00000228289.5_Missense_Mutation_p.P14S|ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000539248.2_Missense_Mutation_p.P14S|ZNF268_ENST00000592241.1_Intron|ZNF268_ENST00000541009.2_Missense_Mutation_p.P14S|ZNF268_ENST00000536899.2_Intron|ZNF268_ENST00000541211.2_Missense_Mutation_p.P14S|ZNF268_ENST00000542986.2_Missense_Mutation_p.P14S|ZNF268_ENST00000416488.1_Missense_Mutation_p.P179S|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.P179S|ZNF268_ENST00000542711.2_Intron	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	14					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACAGGTCCCACCTCTCCAAGA	0.478																																																0								C	SER/PRO,,SER/PRO,,SER/PRO,,,SER/PRO,SER/PRO	0,3738		0,0,1869	28	27	27		40,,40,,40,,,40,40	1.3	1	12		27	6,8220		0,6,4107	yes	missense,utr-5,missense,intron,missense,intron,intron,missense,missense	ZNF268	NM_001165881.2,NM_001165882.2,NM_001165883.1,NM_001165884.2,NM_001165885.1,NM_001165886.1,NM_001165887.1,NM_003415.2,NM_152943.2	74,,74,,74,,,74,74	0,6,5976	TT,TC,CC		0.0729,0.0,0.0502	probably-damaging,,probably-damaging,,probably-damaging,,,probably-damaging,probably-damaging	14/948,,14/136,,14/168,,,14/948,14/194	133764464	6,11958	1869	4113	5982	SO:0001583	missense	10795			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"Zinc fingers, C2H2-type", "-"	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.40C>T	chr12.hg19:g.133764464C>T	ENSP00000444412:p.Pro14Ser		Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	hg19	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070813	0.36566	0.0	7.29E-4	ENSG00000090612	ENST00000416488;ENST00000541009;ENST00000536435;ENST00000228289;ENST00000541211;ENST00000541975	T;T;T;T	0.08282	4.89;4.79;3.11;3.11	3.37	1.33	0.21861	.	.	.	.	.	T	0.04318	0.0119	N	0.19112	0.55	0.80722	D	1	B	0.20368	0.044	B	0.13407	0.009	T	0.40289	-0.9571	8	.	.	.	.	4.2438	0.10662	0.0:0.6255:0.2396:0.1349	.	14	Q14587	ZN268_HUMAN	S	179;14;14;14;14;14	ENSP00000409295:P179S;ENSP00000439539:P14S;ENSP00000444412:P14S;ENSP00000228289:P14S	.	P	+	1	0	ZNF268	132274537	0.791000	0.28800	0.974000	0.42286	0.365000	0.29674	0.980000	0.29513	0.779000	0.33543	-0.258000	0.10820	CCT		0.478	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		T	133764464	C	T	133764464	3	4	12	1	0	0	0	0	1	0	0	0	17812	507	18	2	46	2	ZNF268	12	133764464	Missense_Mutation	SNP	C	TCGA-2Z-A9JI-01A-11D-A42J-10	12750807	133764464	87431	9	917											
KRT24	192666	hgsc.bcm.edu	37	17	38855731	38855731	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr17:38855731G>C	ENST00000264651.2	-	6	1382	c.1326C>G	c.(1324-1326)atC>atG	p.I442M		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	442	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGTAGGTCTCGATCTCCACCT	0.473																																					GBM(61;380 1051 14702 23642 31441)											0													156	154	154					17																	38855731		2203	4300	6503	SO:0001583	missense	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1326C>G	chr17.hg19:g.38855731G>C	ENSP00000264651:p.Ile442Met		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	hg19	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511147	0.64522	.	.	ENSG00000167916	ENST00000264651	D	0.95518	-3.73	5.62	-1.6	0.08426	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.98178	0.9398	H	0.98295	4.195	0.42436	D	0.992697	D	0.89917	1.0	D	0.97110	1.0	D	0.96395	0.9292	9	0.87932	D	0	.	8.0643	0.30651	0.5304:0.0:0.3664:0.1033	.	442	Q2M2I5	K1C24_HUMAN	M	442	ENSP00000264651:I442M	ENSP00000264651:I442M	I	-	3	3	KRT24	36109257	0.845000	0.29573	0.994000	0.49952	0.971000	0.66376	-0.007000	0.12810	-0.225000	0.09913	0.591000	0.81541	ATC		0.473	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		C	38855731	G	C	38855731	3	2	12	1	0	0	0	0	1	0	0	0	8463	1048	37	4	263	4	KRT24	17	38855731	Missense_Mutation	SNP	G	TCGA-2Z-A9JI-01A-11D-A42J-10		38855731	42339479	10	918											
RBM10	8241	hgsc.bcm.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)											0													20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	chrX.hg19:g.47030582G>T	ENSP00000366829:p.Glu119Asp		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	hg19	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		T	47030582	G	T	47030582	3	4	12	1	0	0	0	0	1	0	0	0	13117	991	35	4	367	4	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-2Z-A9JI-01A-11D-A42J-10		47030582	108239978	11	919											
CELF3	11189	hgsc.bcm.edu	37	1	151679166	151679166	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr1:151679166C>T	ENST00000290583.4	-	9	1760	c.967G>A	c.(967-969)Gcg>Acg	p.A323T	CELF3_ENST00000392706.3_Intron|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.A273T|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	323					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGCATCCCCGCGTAGGCCTGC	0.687																																																0													9	10	9					1																	151679166		1879	3579	5458	SO:0001583	missense	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.967G>A	chr1.hg19:g.151679166C>T	ENSP00000290583:p.Ala323Thr		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	hg19	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	15.89	2.966802	0.53507	.	.	ENSG00000159409	ENST00000290585;ENST00000290583	T;T	0.16897	2.31;2.32	4.49	4.49	0.54785	.	0.126953	0.53938	D	0.000048	T	0.04272	0.0118	N	0.16567	0.415	0.80722	D	1	B;B;B;B	0.33826	0.006;0.01;0.063;0.427	B;B;B;B	0.23419	0.005;0.013;0.008;0.046	T	0.37009	-0.9724	10	0.22109	T	0.4	-7.7777	15.906	0.79430	0.0:1.0:0.0:0.0	.	273;323;323;322	Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3	.;.;CELF3_HUMAN;.	T	273;323	ENSP00000290585:A273T;ENSP00000290583:A323T	ENSP00000290583:A323T	A	-	1	0	CELF3	149945790	0.182000	0.23173	0.988000	0.46212	0.985000	0.73830	0.640000	0.24705	2.325000	0.78763	0.561000	0.74099	GCG		0.687	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		T	151679166	C	T	151679166	3	4	13	1	0	0	0	0	1	0	0	0	3219	768	27	1	446	1	CELF3	1	151679166	Missense_Mutation	SNP	C	TCGA-2Z-A9JJ-01A-11D-A42J-10		151679166	97571455	1	920											
C1orf74	148304	hgsc.bcm.edu	37	1	209956222	209956222	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr1:209956222G>A	ENST00000294811.1	-	2	1014	c.758C>T	c.(757-759)gCt>gTt	p.A253V		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	253										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GCTGAGATCAGCAAAGTCATT	0.478																																																0													107	113	111					1																	209956222		2203	4300	6503	SO:0001583	missense	148304			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.758C>T	chr1.hg19:g.209956222G>A	ENSP00000294811:p.Ala253Val			Missense_Mutation	SNP	ENST00000294811.1	hg19	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646718	0.47258	.	.	ENSG00000162757	ENST00000294811	T	0.47869	0.83	5.75	3.87	0.44632	.	0.659417	0.14008	N	0.347653	T	0.36524	0.0970	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.27262	-1.0079	10	0.51188	T	0.08	-1.6294	7.8075	0.29211	0.1481:0.0:0.7188:0.1331	.	253	Q96LT6	CA074_HUMAN	V	253	ENSP00000294811:A253V	ENSP00000294811:A253V	A	-	2	0	C1orf74	208022845	0.493000	0.26035	0.984000	0.44739	0.988000	0.76386	2.185000	0.42584	0.763000	0.33175	0.655000	0.94253	GCT		0.478	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		A	209956222	G	A	209956222	3	1	13	1	0	0	0	0	1	0	0	0	2060	971	34	2	55	2	C1orf74	1	209956222	Missense_Mutation	SNP	G	TCGA-2Z-A9JJ-01A-11D-A42J-10	58277056	209956222	39294399	2	921											
CELSR3	1951	hgsc.bcm.edu	37	3	48687979	48687979	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr3:48687979C>A	ENST00000164024.4	-	16	6686	c.6406G>T	c.(6406-6408)Ggt>Tgt	p.G2136C	CELSR3_ENST00000544264.1_Missense_Mutation_p.G2136C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2136					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCACACACCAGATCTCAGG	0.607																																																0													63	56	59					3																	48687979		2202	4300	6502	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6406G>T	chr3.hg19:g.48687979C>A	ENSP00000164024:p.Gly2136Cys		O75092	Missense_Mutation	SNP	ENST00000164024.4	hg19	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448586	0.63178	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.57273	0.41;0.41	5.42	4.55	0.56014	GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.75620	0.3874	M	0.91818	3.245	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.69654	0.965;0.947	T	0.80730	-0.1252	9	0.87932	D	0	.	11.6972	0.51551	0.0:0.8515:0.0:0.1485	.	2136;2206	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	2136	ENSP00000164024:G2136C;ENSP00000445694:G2136C	ENSP00000164024:G2136C	G	-	1	0	CELSR3	48662983	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	4.669000	0.61575	1.285000	0.44548	0.643000	0.83706	GGT		0.607	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48687979	C	A	48687979	3	1	13	1	0	0	0	0	1	0	0	0	3225	594	21	4	3612	4	CELSR3	3	48687979	Missense_Mutation	SNP	C	TCGA-2Z-A9JJ-01A-11D-A42J-10		48687979	149334451	3	922											
HEG1	57493	hgsc.bcm.edu	37	3	124732410	124732410	+	Silent	SNP	A	A	G			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr3:124732410A>G	ENST00000311127.4	-	6	2080	c.2013T>C	c.(2011-2013)tcT>tcC	p.S671S	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	671	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGGCCCTgaagaagaagaag	0.473																																																0													46	52	50					3																	124732410		2119	4239	6358	SO:0001819	synonymous_variant	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2013T>C	chr3.hg19:g.124732410A>G			Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	hg19	CCDS46898.1																																																																																				0.473	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		G	124732410	A	G	124732410	2	3	13	1	0	0	0	0	0	0	0	1	7046	59	3	3		3	HEG1	3	124732410	Silent	SNP	A	TCGA-2Z-A9JJ-01A-11D-A42J-10	76044431	124732410	73290020	4	923											
PCYT1A	5130	hgsc.bcm.edu	37	3	195968896	195968896	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr3:195968896G>A	ENST00000292823.2	-	8	803	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	PCYT1A_ENST00000431016.1_Missense_Mutation_p.R211W|PCYT1A_ENST00000419333.1_Missense_Mutation_p.R211W	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	211					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	TCATAATCCCGCACAATTCGG	0.488																																																0													147	123	131					3																	195968896		2203	4300	6503	SO:0001583	missense	5130			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.631C>T	chr3.hg19:g.195968896G>A	ENSP00000292823:p.Arg211Trp		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	hg19	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813714	0.90790	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	.	.	.	5.65	5.65	0.86999	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.72590	0.3479	M	0.87381	2.88	0.80722	D	1	D	0.71674	0.998	P	0.48654	0.585	T	0.79004	-0.1980	9	0.87932	D	0	-1.6477	13.7119	0.62674	0.0:0.0:0.8461:0.1538	.	211	P49585	PCY1A_HUMAN	W	211;211;172;211;211;84;145	.	ENSP00000292823:R211W	R	-	1	2	PCYT1A	197453293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.185000	0.72013	2.685000	0.91497	0.650000	0.86243	CGG		0.488	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		A	195968896	G	A	195968896	3	1	13	1	0	0	0	0	1	0	0	0	11612	1086	38	1	484	1	PCYT1A	3	195968896	Missense_Mutation	SNP	G	TCGA-2Z-A9JJ-01A-11D-A42J-10	71236486	195968896	2053534	5	924											
BMP2K	55589	hgsc.bcm.edu	37	4	79792157	79792157	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr4:79792157G>C	ENST00000335016.5	+	11	1618	c.1452G>C	c.(1450-1452)caG>caC	p.Q484H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q484H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	484	Gln/His-rich.			Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcagcagcagcacc	0.498																																																0													19	23	21					4																	79792157		2101	4115	6216	SO:0001583	missense	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1452G>C	chr4.hg19:g.79792157G>C	ENSP00000334836:p.Gln484His		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	hg19	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.194|3.194	-0.165237|-0.165237	0.06461|0.06461	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.91;-0.8	0.515|0.515	0.515|0.515	0.17013|0.17013	.|.	.|3.723490	.|0.01123	.|N	.|0.005826	T|T	0.56688|0.56688	0.2002|0.2002	N|N	0.19112|0.19112	0.55|0.55	0.21325|0.21325	N|N	0.999728|0.999728	.|B;B	.|0.23540	.|0.087;0.032	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.41413|0.41413	-0.9510|-0.9510	5|10	.|0.26408	.|T	.|0.33	.|.	2.8589|2.8589	0.05580|0.05580	0.3668:0.0:0.6332:0.0|0.3668:0.0:0.6332:0.0	.|.	.|484;484	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	177|484;484;498	.|ENSP00000421768:Q484H;ENSP00000334836:Q484H	.|ENSP00000264889:Q498H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011181|80011181	0.879000|0.879000	0.30193|0.30193	0.126000|0.126000	0.21872|0.21872	0.036000|0.036000	0.12997|0.12997	1.288000|1.288000	0.33296|0.33296	0.550000|0.550000	0.28991|0.28991	0.163000|0.163000	0.16589|0.16589	GCA|CAG		0.498	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		C	79792157	G	C	79792157	3	2	13	1	0	0	0	0	1	0	0	0	1460	962	34	4	1494	4	BMP2K	4	79792157	Missense_Mutation	SNP	G	TCGA-2Z-A9JJ-01A-11D-A42J-10		79792157	111362119	6	925	8	2									
BMP2K	55589	hgsc.bcm.edu	37	4	79792160	79792160	+	Missense_Mutation	SNP	G	G	C	rs202184856|rs575644040	byFrequency	TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr4:79792160G>C	ENST00000335016.5	+	11	1621	c.1455G>C	c.(1453-1455)caG>caC	p.Q485H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q485H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	485	Gln/His-rich.			Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcagcagcaccacc	0.493													G|||	44	0.00878594	0.0015	0.0043	5008	,	,		11170	0.0159		0.0219	False		,,,				2504	0.001															0													19	23	22					4																	79792160		2144	4181	6325	SO:0001583	missense	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1455G>C	chr4.hg19:g.79792160G>C	ENSP00000334836:p.Gln485His		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	hg19	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.107|0.107	-1.144327|-1.144327	0.01728|0.01728	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.73897	.|0.94;-0.79	.|.	.|.	.|.	.|.	.|2.710950	.|0.01643	.|U	.|0.024172	T|T	0.51941|0.51941	0.1704|0.1704	N|N	0.08118|0.08118	0|0	0.27818|0.27818	N|N	0.94189|0.94189	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.39210|0.39210	-0.9625|-0.9625	4|9	.|0.44086	.|T	.|0.13	.|.	5.0772|5.0772	0.14638|0.14638	0.0:0.6216:0.3784:0.0|0.0:0.6216:0.3784:0.0	.|.	.|485;485	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	178|485;485;499	.|ENSP00000421768:Q485H;ENSP00000334836:Q485H	.|ENSP00000264889:Q499H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011184|80011184	0.113000|0.113000	0.22115|0.22115	0.097000|0.097000	0.21041|0.21041	0.022000|0.022000	0.10575|0.10575	-0.733000|-0.733000	0.04898|0.04898	-1.546000|-1.546000	0.01717|0.01717	-1.555000|-1.555000	0.00892|0.00892	GCA|CAG		0.493	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		C	79792160	G	C	79792160	3	2	13	1	0	0	0	0	1	0	0	0	1460	962	34	4	1497	4	BMP2K	4	79792160	Missense_Mutation	SNP	G	TCGA-2Z-A9JJ-01A-11D-A42J-10	3	79792160	111362116	7	926	8	2									
TUBB	203068	hgsc.bcm.edu	37	6	30691726	30691726	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr6:30691726C>G	ENST00000327892.8	+	4	1193	c.887C>G	c.(886-888)gCc>gGc	p.A296G	TUBB_ENST00000396389.1_Missense_Mutation_p.A278G|TUBB_ENST00000330914.3_Missense_Mutation_p.A224G|TUBB_ENST00000396384.1_Missense_Mutation_p.A224G|TUBB_ENST00000435534.1_Intron|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	296					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GTCTTCGATGCCAAGAACATG	0.592																																																0													63	62	62					6																	30691726		2203	4300	6503	SO:0001583	missense	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.887C>G	chr6.hg19:g.30691726C>G	ENSP00000339001:p.Ala296Gly		P05218|Q8WUC1|Q9CY33	Missense_Mutation	SNP	ENST00000327892.8	hg19	CCDS4687.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291594	0.40494	.	.	ENSG00000196230	ENST00000327892;ENST00000422827;ENST00000330914;ENST00000396389;ENST00000396384;ENST00000538863	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.25	4.25	0.50352	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87877	0.6288	H	0.97103	3.94	0.80722	D	1	B;B	0.20550	0.046;0.038	B;B	0.40782	0.34;0.23	D	0.89650	0.3869	10	0.87932	D	0	.	14.1681	0.65490	0.0:1.0:0.0:0.0	.	296;296	P07437;F8VW92	TBB5_HUMAN;.	G	296;205;224;278;224;150	ENSP00000339001:A296G;ENSP00000365578:A224G;ENSP00000379672:A278G;ENSP00000379668:A224G	ENSP00000339001:A296G	A	+	2	0	TUBB	30799705	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.377000	0.79668	2.204000	0.70986	0.591000	0.81541	GCC		0.592	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		G	30691726	C	G	30691726	3	3	13	1	0	0	0	0	1	0	0	0	16757	739	26	4	901	4	TUBB	6	30691726	Missense_Mutation	SNP	C	TCGA-2Z-A9JJ-01A-11D-A42J-10		30691726	140423341	8	927											
SPDEF	25803	hgsc.bcm.edu	37	6	34506127	34506127	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr6:34506127T>C	ENST00000374037.3	-	6	1346	c.932A>G	c.(931-933)cAg>cGg	p.Q311R	SPDEF_ENST00000544425.1_Missense_Mutation_p.Q295R	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	311					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CTTGTAATACTGGCGGATGGA	0.597																																																0													194	179	184					6																	34506127		2203	4300	6503	SO:0001583	missense	25803			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.932A>G	chr6.hg19:g.34506127T>C	ENSP00000363149:p.Gln311Arg		B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	hg19	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.045373	0.93685	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.13307	2.6;2.6	5.55	5.55	0.83447	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.996	T	0.01476	-1.1345	10	0.56958	D	0.05	.	15.6884	0.77430	0.0:0.0:0.0:1.0	.	295;311	F5H778;O95238	.;SPDEF_HUMAN	R	311;295	ENSP00000363149:Q311R;ENSP00000442715:Q295R	ENSP00000363149:Q311R	Q	-	2	0	SPDEF	34614105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.027000	0.88791	2.108000	0.64289	0.533000	0.62120	CAG		0.597	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		C	34506127	T	C	34506127	3	2	13	1	0	0	0	0	1	0	0	0	15031	1580	55	3	79	3	SPDEF	6	34506127	Missense_Mutation	SNP	T	TCGA-2Z-A9JJ-01A-11D-A42J-10	3814401	34506127	136608940	9	928											
DNAH8	1769	hgsc.bcm.edu	37	6	38835956	38835956	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr6:38835956T>C	ENST00000359357.3	+	46	6415	c.6161T>C	c.(6160-6162)aTg>aCg	p.M2054T	DNAH8_ENST00000449981.2_Missense_Mutation_p.M2271T|DNAH8_ENST00000441566.1_Missense_Mutation_p.M2018T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2054					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTAAGAGATATGAACCTTTCC	0.358																																																0													110	109	109					6																	38835956		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6161T>C	chr6.hg19:g.38835956T>C	ENSP00000352312:p.Met2054Thr		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.4|21.4	4.149799|4.149799	0.78001|0.78001	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566|ENST00000394393	T;T;T|.	0.18960|.	2.18;2.18;2.18|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69342|.	0.3100|.	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|.	0.70753|.	-0.4786|.	10|.	0.87932|.	D|.	0|.	.|.	16.1376|16.1376	0.81497|0.81497	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2054|.	Q96JB1|.	DYH8_HUMAN|.	T|R	2259;2259;2054;2018|100	ENSP00000333363:M2259T;ENSP00000352312:M2054T;ENSP00000402294:M2018T|.	ENSP00000333363:M2259T|.	M|X	+|+	2|1	0|0	DNAH8|DNAH8	38943934|38943934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.010000|8.010000	0.88615|0.88615	2.212000|2.212000	0.71576|0.71576	0.533000|0.533000	0.62120|0.62120	ATG|TGA		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38835956	T	C	38835956	3	2	13	1	0	0	0	0	1	0	0	0	4609	1464	51	3	6335	3	DNAH8	6	38835956	Missense_Mutation	SNP	T	TCGA-2Z-A9JJ-01A-11D-A42J-10	4329829	38835956	132279111	10	929											
DST	667	hgsc.bcm.edu	37	6	56382076	56382076	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr6:56382076T>C	ENST00000361203.3	-	66	17324	c.17317A>G	c.(17317-17319)Aag>Gag	p.K5773E	DST_ENST00000370788.2_Missense_Mutation_p.K3687E|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.K3796E|DST_ENST00000370754.5_Missense_Mutation_p.K6062E|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.K5558E|DST_ENST00000370769.4_Missense_Mutation_p.K5884E|DST_ENST00000244364.6_Missense_Mutation_p.K3470E			Q03001	DYST_HUMAN	dystonin	5773					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATAATATCCTTGTGTCTCAAA	0.328																																																0													190	183	185					6																	56382076		1876	4096	5972	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17317A>G	chr6.hg19:g.56382076T>C	ENSP00000354508:p.Lys5773Glu		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	hg19		.	.	.	.	.	.	.	.	.	.	T	19.78	3.891493	0.72524	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.45	5.45	0.79879	.	0.000000	0.53938	D	0.000044	T	0.59088	0.2168	M	0.71581	2.175	0.30416	N	0.778577	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.994	D;D;D;D;D	0.87578	0.998;0.992;0.998;0.998;0.941	T	0.58509	-0.7624	9	0.31617	T	0.26	.	15.8029	0.78471	0.0:0.0:0.0:1.0	.	3796;5884;6062;5882;3470	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	E	3470;6062;5884;3796;5558;3687;5773	ENSP00000244364:K3470E;ENSP00000359790:K6062E;ENSP00000359805:K5884E;ENSP00000400883:K3796E;ENSP00000393645:K5558E;ENSP00000359824:K3687E;ENSP00000354508:K5773E	ENSP00000244364:K3470E	K	-	1	0	DST	56490035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.189000	0.69895	0.533000	0.62120	AAG		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		C	56382076	T	C	56382076	3	2	13	1	0	0	0	0	1	0	0	0	4785	1821	63	3	5239	3	DST	6	56382076	Missense_Mutation	SNP	T	TCGA-2Z-A9JJ-01A-11D-A42J-10	17546120	56382076	114732991	11	930											
FAM46A	55603	hgsc.bcm.edu	37	6	82461742	82461742	+	Silent	SNP	G	G	A			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr6:82461742G>A	ENST00000320172.6	-	2	431	c.117C>T	c.(115-117)ggC>ggT	p.G39G	FAM46A_ENST00000369756.3_Silent_p.G120G|FAM46A_ENST00000369754.3_Silent_p.G58G	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	39			Missing. {ECO:0000269|PubMed:12054608, ECO:0000269|PubMed:16545789}.		regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		cgaagtcgccgccgccgaagt	0.667																																																0													7	8	8					6																	82461742		1601	3424	5025	SO:0001819	synonymous_variant	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.117C>T	chr6.hg19:g.82461742G>A			A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	hg19	CCDS34489.1																																																																																				0.667	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			A	82461742	G	A	82461742	2	1	13	1	0	0	0	0	0	0	0	1	5567	1074	38	1		1	FAM46A	6	82461742	Silent	SNP	G	TCGA-2Z-A9JJ-01A-11D-A42J-10	26079666	82461742	88653325	12	931											
ABCB5	340273	hgsc.bcm.edu	37	7	20739491	20739492	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr7:20739491_20739492insT	ENST00000404938.2	+	18	2850_2851	c.2198_2199insT	c.(2197-2202)gaaattfs	p.EI733fs	ABCB5_ENST00000258738.6_Frame_Shift_Ins_p.EI288fs	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	733	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CATGATGCAGAAATTTATTCCA	0.307																																																0																																										SO:0001589	frameshift_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	Exception_encountered	chr7.hg19:g.20739491_20739492insT	ENSP00000384881:p.Glu733fs		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Frame_Shift_Ins	INS	ENST00000404938.2	hg19	CCDS55090.1																																																																																				0.307	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		T	20739492	-	T	20739491	7	5	13	1	0	1	1	0	0	0	0	0	44	246	9	0	2305	0	ABCB5	7	20739491	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JJ-01A-11D-A42J-10		20739491	138399172	13	932											
GPR124	25960	hgsc.bcm.edu	37	8	37690712	37690712	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr8:37690712T>C	ENST00000412232.2	+	9	1295	c.1282T>C	c.(1282-1284)Tac>Cac	p.Y428H	GPR124_ENST00000315215.7_Missense_Mutation_p.Y428H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	428					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CAGGGTGCTGTACACCTTCGT	0.667																																																0													41	37	38					8																	37690712		2203	4297	6500	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1282T>C	chr8.hg19:g.37690712T>C	ENSP00000406367:p.Tyr428His		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	hg19	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	T	12.84	2.058746	0.36277	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.59502	0.26;0.26	5.11	5.11	0.69529	.	0.144593	0.47852	N	0.000209	T	0.41858	0.1177	N	0.16743	0.435	0.47094	D	0.999312	B;B	0.27416	0.178;0.009	B;B	0.29862	0.108;0.009	T	0.29119	-1.0022	10	0.15499	T	0.54	-21.7041	14.9163	0.70801	0.0:0.0:0.0:1.0	.	428;428	Q96PE1-2;Q96PE1	.;GP124_HUMAN	H	421;428;428	ENSP00000323508:Y428H;ENSP00000406367:Y428H	ENSP00000323508:Y428H	Y	+	1	0	GPR124	37809870	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.087000	0.50167	1.924000	0.55735	0.533000	0.62120	TAC		0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			C	37690712	T	C	37690712	3	2	13	1	0	0	0	0	1	0	0	0	6640	1638	57	3	1295	3	GPR124	8	37690712	Missense_Mutation	SNP	T	TCGA-2Z-A9JJ-01A-11D-A42J-10		37690712	108673310	14	933											
VPS13A	23230	hgsc.bcm.edu	37	9	79936242	79936242	+	Splice_Site	SNP	A	A	G			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr9:79936242A>G	ENST00000360280.3	+	43	5833	c.5573A>G	c.(5572-5574)aAg>aGg	p.K1858R	VPS13A_ENST00000376636.3_Splice_Site_p.K1819R|VPS13A_ENST00000376634.4_Splice_Site_p.K1858R|VPS13A_ENST00000357409.5_Splice_Site_p.K1858R	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1858					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AATTTAGTCAAGGTAAGAAAA	0.279																																																0													26	26	26					9																	79936242		2195	4278	6473	SO:0001630	splice_region_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5574+1A>G	chr9.hg19:g.79936242A>G			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	hg19	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.69|16.69	3.193752|3.193752	0.58017|0.58017	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409|ENST00000419472	T;T;T;T|.	0.50813|.	0.73;0.73;0.73;0.73|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.551714|.	0.20291|.	N|.	0.095247|.	T|T	0.63295|0.63295	0.2499|0.2499	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;P;B;B;B|.	0.44877|.	0.376;0.845;0.411;0.404;0.404|.	B;P;B;B;B|.	0.48677|.	0.108;0.586;0.055;0.234;0.234|.	T|T	0.61855|0.61855	-0.6977|-0.6977	10|5	0.44086|.	T|.	0.13|.	.|.	12.3993|12.3993	0.55404|0.55404	0.821:0.179:0.0:0.0|0.821:0.179:0.0:0.0	.|.	110;1819;1858;1858;1858|.	B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4|.	.;.;VP13A_HUMAN;.;.|.	R|G	1858;1819;1858;1858|111	ENSP00000365821:K1858R;ENSP00000365823:K1819R;ENSP00000353422:K1858R;ENSP00000349985:K1858R|.	ENSP00000349985:K1858R|.	K|R	+|+	2|1	0|2	VPS13A|VPS13A	79126062|79126062	0.998000|0.998000	0.40836|0.40836	0.940000|0.940000	0.37924|0.37924	0.835000|0.835000	0.47333|0.47333	1.435000|1.435000	0.34969|0.34969	2.214000|2.214000	0.71695|0.71695	0.477000|0.477000	0.44152|0.44152	AAG|AGG		0.279	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Missense_Mutation	G	79936242	A	G	79936242	5	3	13	1	0	0	0	0	0	0	1	0	17194	86	3	3	5743	3	VPS13A	9	79936242	Splice_Site	SNP	A	TCGA-2Z-A9JJ-01A-11D-A42J-10		79936242	61277189	15	934											
ALKBH8	91801	hgsc.bcm.edu	37	11	107427686	107427686	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr11:107427686C>T	ENST00000428149.2	-	3	324	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	ALKBH8_ENST00000389568.3_Missense_Mutation_p.R58Q|ALKBH8_ENST00000429370.1_Missense_Mutation_p.R58Q|ALKBH8_ENST00000417449.2_Missense_Mutation_p.R61Q|ALKBH8_ENST00000530933.1_5'UTR	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	58	RRM.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CAGCTGGTTCCGACTCACACC	0.433																																																0													96	94	94					11																	107427686		2201	4298	6499	SO:0001583	missense	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"Alkylation repair homologs", "RNA binding motif (RRM) containing"	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.173G>A	chr11.hg19:g.107427686C>T	ENSP00000415885:p.Arg58Gln		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	hg19	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	C	30	5.054614	0.93793	.	.	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	T;T;T;T	0.45276	0.9;2.44;0.9;0.9	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	M	0.61703	1.905	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.63919	-0.6528	10	0.59425	D	0.04	-18.0663	18.7588	0.91842	0.0:1.0:0.0:0.0	.	58	Q96BT7	ALKB8_HUMAN	Q	58;58;58;61	ENSP00000415885:R58Q;ENSP00000391225:R58Q;ENSP00000374219:R58Q;ENSP00000397673:R61Q	ENSP00000260318:R58Q	R	-	2	0	ALKBH8	106932896	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.676000	0.74498	2.697000	0.92050	0.655000	0.94253	CGG		0.433	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		T	107427686	C	T	107427686	3	4	13	1	0	0	0	0	1	0	0	0	533	652	23	1	1861	1	ALKBH8	11	107427686	Missense_Mutation	SNP	C	TCGA-2Z-A9JJ-01A-11D-A42J-10		107427686	27578830	16	935											
ITPR2	3709	hgsc.bcm.edu	37	12	26810812	26810812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr12:26810812G>A	ENST00000381340.3	-	18	2436	c.2020C>T	c.(2020-2022)Caa>Taa	p.Q674*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	674					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTGTCTGCTTGCATTGAGACC	0.373																																																0													100	91	94					12																	26810812		1861	4097	5958	SO:0001587	stop_gained	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2020C>T	chr12.hg19:g.26810812G>A	ENSP00000370744:p.Gln674*		O94773	Nonsense_Mutation	SNP	ENST00000381340.3	hg19	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	43	10.411246	0.99400	.	.	ENSG00000123104	ENST00000381340	.	.	.	4.4	4.4	0.53042	.	0.380582	0.29908	N	0.010886	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	17.5669	0.87922	0.0:0.0:1.0:0.0	.	.	.	.	X	674	.	ENSP00000370744:Q674X	Q	-	1	0	ITPR2	26702079	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.467000	0.66737	2.448000	0.82819	0.655000	0.94253	CAA		0.373	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26810812	G	A	26810812	4	1	13	1	0	0	0	0	0	1	0	0	7923	1328	46	2	6245	2	ITPR2	12	26810812	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JJ-01A-11D-A42J-10		26810812	107041083	17	936											
SIRT7	51547	hgsc.bcm.edu	37	17	79871988	79871988	+	Missense_Mutation	SNP	G	G	A	rs560137203		TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr17:79871988G>A	ENST00000328666.6	-	8	934	c.872C>T	c.(871-873)cCg>cTg	p.P291L	PCYT2_ENST00000570391.1_5'Flank|PCYT2_ENST00000538936.2_5'Flank|PCYT2_ENST00000571105.1_5'Flank|PCYT2_ENST00000331285.3_5'Flank|PCYT2_ENST00000538721.2_5'Flank|PCYT2_ENST00000570388.1_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	291	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GTAAAGCTTCGGCCGCCGGCT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19606	0.001		0.0	False		,,,				2504	0.0															0													58	59	59					17																	79871988		2203	4300	6503	SO:0001583	missense	51547			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7", "sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.872C>T	chr17.hg19:g.79871988G>A	ENSP00000329466:p.Pro291Leu		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	hg19	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857274	0.71834	.	.	ENSG00000187531	ENST00000328666;ENST00000536038	T	0.15834	2.39	4.27	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	M	0.75884	2.315	0.80722	D	1	P;D	0.53151	0.953;0.958	B;P	0.52793	0.372;0.709	T	0.12091	-1.0561	10	0.56958	D	0.05	-21.8466	12.1883	0.54252	0.0829:0.0:0.9171:0.0	.	291;291	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	L	291;274	ENSP00000329466:P291L	ENSP00000329466:P291L	P	-	2	0	SIRT7	77465280	1.000000	0.71417	0.992000	0.48379	0.659000	0.38960	9.121000	0.94375	1.034000	0.39945	0.549000	0.68633	CCG		0.572	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		A	79871988	G	A	79871988	3	1	13	1	0	0	0	0	1	0	0	0	14349	1116	39	1	342	1	SIRT7	17	79871988	Missense_Mutation	SNP	G	TCGA-2Z-A9JJ-01A-11D-A42J-10		79871988	1323222	18	937											
MUC16	94025	hgsc.bcm.edu	37	19	9062897	9062897	+	Silent	SNP	G	G	A			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr19:9062897G>A	ENST00000397910.4	-	3	24752	c.24549C>T	c.(24547-24549)atC>atT	p.I8183I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8185	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGTCTGGTGATGGTTTCTG	0.488																																																0													121	116	118					19																	9062897		2075	4211	6286	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24549C>T	chr19.hg19:g.9062897G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	hg19	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9062897	G	A	9062897	2	1	13	1	0	0	0	0	0	0	0	1	9975	1280	45	2		2	MUC16	19	9062897	Silent	SNP	G	TCGA-2Z-A9JJ-01A-11D-A42J-10		9062897	50066086	19	938											
PRDM15	63977	hgsc.bcm.edu	37	21	43230577	43230577	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chr21:43230577T>G	ENST00000269844.3	-	28	3793	c.3683A>C	c.(3682-3684)cAg>cCg	p.Q1228P	PRDM15_ENST00000398548.1_Missense_Mutation_p.Q899P|PRDM15_ENST00000422911.1_Missense_Mutation_p.Q919P|PRDM15_ENST00000538201.1_Missense_Mutation_p.Q882P|PRDM15_ENST00000447207.2_Missense_Mutation_p.Q862P|PRDM15_ENST00000470586.1_5'UTR	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCCGCACAGCTGGCAGCTCTG	0.647																																																0													91	60	71					21																	43230577		2203	4299	6502	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3683A>C	chr21.hg19:g.43230577T>G	ENSP00000269844:p.Gln1228Pro		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	hg19	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	t	21.2	4.114809	0.77210	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08008	4.82;4.82;4.82;4.82;3.14	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.11067	0.0270	N	0.14661	0.345	0.43868	D	0.996471	D;D;D	0.62365	0.961;0.989;0.991	P;P;P	0.57468	0.815;0.767;0.821	T	0.16600	-1.0397	9	0.54805	T	0.06	-30.9208	12.2904	0.54815	0.0:0.0:0.0:1.0	.	1228;919;899	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	P	919;899;882;862;1228	ENSP00000408592:Q919P;ENSP00000381556:Q899P;ENSP00000444044:Q882P;ENSP00000390245:Q862P;ENSP00000269844:Q1228P	ENSP00000269844:Q1228P	Q	-	2	0	PRDM15	42103646	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.744000	0.85034	1.496000	0.48567	0.255000	0.18592	CAG		0.647	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		G	43230577	T	G	43230577	3	3	13	1	0	0	0	0	1	0	0	0	12461	1580	55	5	856	5	PRDM15	21	43230577	Missense_Mutation	SNP	T	TCGA-2Z-A9JJ-01A-11D-A42J-10		43230577	4899318	20	939											
DMD	1756	hgsc.bcm.edu	37	X	31462641	31462641	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chrX:31462641A>C	ENST00000357033.4	-	60	9247	c.9041T>G	c.(9040-9042)cTc>cGc	p.L3014R	DMD_ENST00000541735.1_Missense_Mutation_p.L554R|DMD_ENST00000378677.2_Missense_Mutation_p.L3010R|DMD_ENST00000343523.2_Missense_Mutation_p.L554R|DMD_ENST00000359836.1_Missense_Mutation_p.L554R|DMD_ENST00000474231.1_Missense_Mutation_p.L554R|DMD_ENST00000378707.3_Missense_Mutation_p.L554R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3014					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGAGTGCTGAGGTTATACGG	0.448																																																0			GRCh37	CD054319	DMD	D							148	119	129					X																	31462641		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9041T>G	chrX.hg19:g.31462641A>C	ENSP00000354923:p.Leu3014Arg		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	hg19	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625732	0.66901	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.56	5.56	0.83823	.	0.000000	0.30911	U	0.008637	T	0.61160	0.2325	M	0.62723	1.935	0.49213	D	0.999766	P;D;D;D;D;B;P;P;D;D;P	0.76494	0.951;0.999;0.986;0.997;0.997;0.185;0.741;0.741;0.999;0.999;0.934	P;D;P;D;D;B;P;B;D;D;P	0.71184	0.699;0.969;0.876;0.952;0.952;0.187;0.67;0.395;0.972;0.952;0.685	T	0.58487	-0.7628	10	0.10902	T	0.67	.	13.5718	0.61851	1.0:0.0:0.0:0.0	.	3006;3014;3010;1673;1670;554;554;554;554;554;2891	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	R	3006;1673;1670;710;3010;3014;554;554;3014;2891;554;554;554	ENSP00000350765:L710R;ENSP00000367948:L3010R;ENSP00000354923:L3014R;ENSP00000352894:L554R;ENSP00000340057:L554R;ENSP00000367979:L554R;ENSP00000444119:L554R;ENSP00000417123:L554R	ENSP00000340057:L554R	L	-	2	0	DMD	31372562	1.000000	0.71417	0.982000	0.44146	0.871000	0.50021	6.407000	0.73280	1.848000	0.53677	0.437000	0.28790	CTC		0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	31462641	A	C	31462641	3	2	13	1	0	0	0	0	1	0	0	0	4582	304	11	5	2210	5	DMD	23	31462641	Missense_Mutation	SNP	A	TCGA-2Z-A9JJ-01A-11D-A42J-10		31462641	123807919	21	940											
TIMP1	7076	hgsc.bcm.edu	37	X	47445924	47445924	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chrX:47445924T>G	ENST00000218388.4	+	6	628	c.458T>G	c.(457-459)tTt>tGt	p.F153C	MIR4769_ENST00000584126.1_RNA|SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Missense_Mutation_p.F89C	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	153					aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						TTCCAGGTGTTTCCCTGTTTA	0.577																																																0													138	106	117					X																	47445924		2203	4300	6503	SO:0001583	missense	7076				CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.458T>G	chrX.hg19:g.47445924T>G	ENSP00000218388:p.Phe153Cys		Q14252|Q9UCU1	Missense_Mutation	SNP	ENST00000218388.4	hg19	CCDS14281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.76|15.76	2.929866|2.929866	0.52759|0.52759	.|.	.|.	ENSG00000102265|ENSG00000102265	ENST00000218388;ENST00000377017|ENST00000445623	D;D|D	0.93307|0.92858	-3.2;-3.2|-3.12	5.35|5.35	4.05|4.05	0.47172|0.47172	Tissue inhibitor of metalloproteinases-like, OB-fold (1);|.	0.712428|0.712428	0.12937|0.12937	N|N	0.426934|0.426934	D|D	0.91412|0.91412	0.7290|0.7290	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.64506|.	0.926|.	D|D	0.85916|0.85916	0.1443|0.1443	10|8	0.38643|0.14252	T|T	0.18|0.57	.|.	7.9867|7.9867	0.30216|0.30216	0.1993:0.0:0.0:0.8007|0.1993:0.0:0.0:0.8007	.|.	153|.	P01033|.	TIMP1_HUMAN|.	C|V	153;89|111	ENSP00000218388:F153C;ENSP00000366216:F89C|ENSP00000410983:F111V	ENSP00000218388:F153C|ENSP00000410983:F111V	F|F	+|+	2|1	0|0	TIMP1|TIMP1	47330868|47330868	0.944000|0.944000	0.32072|0.32072	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	1.733000|1.733000	0.38156|0.38156	1.793000|1.793000	0.52555|0.52555	0.425000|0.425000	0.28330|0.28330	TTT|TTC		0.577	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056423.1	NM_003254		G	47445924	T	G	47445924	3	3	13	1	0	0	0	0	1	0	0	0	15922	1841	64	5	476	5	TIMP1	23	47445924	Missense_Mutation	SNP	T	TCGA-2Z-A9JJ-01A-11D-A42J-10	15983283	47445924	107824636	22	941											
SHROOM4	57477	hgsc.bcm.edu	37	X	50350751	50350751	+	Missense_Mutation	SNP	G	G	C	rs201290098		TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chrX:50350751G>C	ENST00000289292.7	-	6	3674	c.3391C>G	c.(3391-3393)Cag>Gag	p.Q1131E	SHROOM4_ENST00000376020.2_Missense_Mutation_p.Q1131E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q1015E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1131	Gln-rich.			KQQ -> QQQQKQQE (in Ref. 1; BAA86516 and 3; AAI51241). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					tcctcctcctgttgcttctgc	0.582																																																0													15	14	15					X																	50350751		2199	4294	6493	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3391C>G	chrX.hg19:g.50350751G>C	ENSP00000289292:p.Gln1131Glu		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	hg19	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.554911	0.00918	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.06449	3.3;3.3;3.3	4.89	-0.0454	0.13851	.	1.383290	0.04423	N	0.367895	T	0.03827	0.0108	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36456	-0.9747	10	0.02654	T	1	.	4.0399	0.09746	0.093:0.4322:0.3193:0.1556	.	1131	Q9ULL8	SHRM4_HUMAN	E	1131;1131;1015	ENSP00000289292:Q1131E;ENSP00000365188:Q1131E;ENSP00000421450:Q1015E	ENSP00000289292:Q1131E	Q	-	1	0	SHROOM4	50367491	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.374000	0.20501	-0.047000	0.13423	-0.434000	0.05882	CAG		0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		C	50350751	G	C	50350751	3	2	13	1	0	0	0	0	1	0	0	0	14302	1386	48	4	1106	4	SHROOM4	23	50350751	Missense_Mutation	SNP	G	TCGA-2Z-A9JJ-01A-11D-A42J-10	2904827	50350751	104919809	23	942											
HUWE1	10075	hgsc.bcm.edu	37	X	53627271	53627271	+	Splice_Site	SNP	T	T	C			TCGA-2Z-A9JJ-01A-11D-A42J-10	TCGA-2Z-A9JJ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d24232d5-301a-471f-bfc3-a6cc25ff860b	47cbf5dc-dc36-4c04-905c-d43e8c5d986e	g.chrX:53627271T>C	ENST00000342160.3	-	28	3429		c.e28-2		HUWE1_ENST00000218328.8_Splice_Site|HUWE1_ENST00000262854.6_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTTCCCCATCTACAGATGTAT	0.453																																																0													60	49	53					X																	53627271		2201	4299	6500	SO:0001630	splice_region_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2972-2A>G	chrX.hg19:g.53627271T>C			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	SNP	ENST00000342160.3	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757675	0.49468	.	.	ENSG00000086758	ENST00000342160;ENST00000427052;ENST00000262854;ENST00000218328	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6011	0.62020	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HUWE1	53643996	1.000000	0.71417	0.883000	0.34634	0.741000	0.42261	5.399000	0.66314	1.855000	0.53841	0.425000	0.28330	.		0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Intron	C	53627271	T	C	53627271	5	2	13	1	0	0	0	0	0	0	1	0	7463	1536	53	3	10378	3	HUWE1	23	53627271	Splice_Site	SNP	T	TCGA-2Z-A9JJ-01A-11D-A42J-10	3276520	53627271	101643289	24	943											
PLOD1	5351	hgsc.bcm.edu	37	1	12030830	12030830	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr1:12030830T>G	ENST00000196061.4	+	17	1886	c.1859T>G	c.(1858-1860)aTt>aGt	p.I620S	PLOD1_ENST00000376369.3_Missense_Mutation_p.I667S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	620					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CTGGAGTACATTGCGCCCATG	0.592																																																0													100	83	89					1																	12030830		2203	4300	6503	SO:0001583	missense	5351			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1859T>G	chr1.hg19:g.12030830T>G	ENSP00000196061:p.Ile620Ser		B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	hg19	CCDS142.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681482	0.88542	.	.	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.68765	-0.35;-0.35	5.94	5.94	0.96194	Prolyl 4-hydroxylase, alpha subunit (1);	0.150032	0.56097	D	0.000024	T	0.69169	0.3081	M	0.83953	2.67	0.80722	D	1	P;B	0.40431	0.717;0.434	B;B	0.35413	0.202;0.202	T	0.75816	-0.3184	10	0.87932	D	0	.	15.579	0.76418	0.0:0.0:0.0:1.0	.	667;620	B4DR87;Q02809	.;PLOD1_HUMAN	S	284;667;620	ENSP00000365548:I667S;ENSP00000196061:I620S	ENSP00000196061:I620S	I	+	2	0	PLOD1	11953417	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.267000	0.72546	2.279000	0.76181	0.459000	0.35465	ATT		0.592	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		G	12030830	T	G	12030830	3	3	14	1	0	0	0	0	1	0	0	0	12103	1493	52	5	1925	5	PLOD1	1	12030830	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10		12030830	237219791	1	944											
PTPRU	10076	hgsc.bcm.edu	37	1	29585229	29585229	+	Missense_Mutation	SNP	G	G	T	rs145487041		TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr1:29585229G>T	ENST00000345512.3	+	3	547	c.418G>T	c.(418-420)Ggc>Tgc	p.G140C	PTPRU_ENST00000428026.2_Missense_Mutation_p.G140C|PTPRU_ENST00000356870.3_Missense_Mutation_p.G140C|PTPRU_ENST00000460170.2_Missense_Mutation_p.G140C|PTPRU_ENST00000323874.8_Missense_Mutation_p.G140C|PTPRU_ENST00000373779.3_Missense_Mutation_p.G140C	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	140	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGGATCCCACGGCCGTCAGTG	0.642																																																0													58	58	58					1																	29585229		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.418G>T	chr1.hg19:g.29585229G>T	ENSP00000334941:p.Gly140Cys		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	hg19	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152038	0.94645	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.02974	4.09;4.09;4.09;4.09;4.09;4.09	5.72	5.72	0.89469	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.140445	0.46145	D	0.000315	T	0.20941	0.0504	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.994;0.994;0.994;0.996;0.996	T	0.00446	-1.1734	9	.	.	.	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	140;140;140;140;140	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	C	140	ENSP00000334941:G140C;ENSP00000362884:G140C;ENSP00000349333:G140C;ENSP00000314987:G140C;ENSP00000392332:G140C;ENSP00000432906:G140C	.	G	+	1	0	PTPRU	29457816	1.000000	0.71417	0.961000	0.40146	0.975000	0.68041	9.869000	0.99810	2.699000	0.92147	0.591000	0.81541	GGC		0.642	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			T	29585229	G	T	29585229	3	4	14	1	0	0	0	0	1	0	0	0	12819	1116	39	4	428	4	PTPRU	1	29585229	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	17554399	29585229	219665392	2	945											
B4GALT2	8704	hgsc.bcm.edu	37	1	44447485	44447485	+	Silent	SNP	G	G	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr1:44447485G>T	ENST00000356836.6	+	3	1228	c.438G>T	c.(436-438)gcG>gcT	p.A146A	B4GALT2_ENST00000434555.2_Silent_p.A80A|B4GALT2_ENST00000309519.7_Silent_p.A175A|B4GALT2_ENST00000372324.1_Silent_p.A146A	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	146					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.A146A(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AGACGGTGGCGGTCATCATCC	0.657																																																1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											73	63	67					1																	44447485		2203	4300	6503	SO:0001819	synonymous_variant	8704			AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.438G>T	chr1.hg19:g.44447485G>T			B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Silent	SNP	ENST00000356836.6	hg19	CCDS506.1																																																																																				0.657	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		T	44447485	G	T	44447485	2	4	14	1	0	0	0	0	0	0	0	1	1271	1103	39	4		4	B4GALT2	1	44447485	Silent	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	14862256	44447485	204803136	3	946											
DOCK7	85440	hgsc.bcm.edu	37	1	63096983	63096983	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr1:63096983G>T	ENST00000340370.5	-	11	1227	c.1210C>A	c.(1210-1212)Cat>Aat	p.H404N	DOCK7_ENST00000404627.2_Missense_Mutation_p.H404N|DOCK7_ENST00000251157.5_Missense_Mutation_p.H404N	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	404					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTCATTAAATGGATTGCAGTC	0.373																																																0													90	86	87					1																	63096983		2202	4300	6502	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1210C>A	chr1.hg19:g.63096983G>T	ENSP00000340742:p.His404Asn		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	hg19	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723622	0.48728	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.40756	1.02;1.02;1.02	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	L	0.52126	1.63	0.80722	D	1	P;D;B;D;B	0.89917	0.823;1.0;0.383;0.998;0.036	B;D;B;D;B	0.83275	0.414;0.991;0.219;0.996;0.034	T	0.32745	-0.9895	10	0.27785	T	0.31	.	18.2163	0.89886	0.0:0.0:1.0:0.0	.	404;404;404;404;404	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	N	404	ENSP00000251157:H404N;ENSP00000340742:H404N;ENSP00000384446:H404N	ENSP00000251157:H404N	H	-	1	0	DOCK7	62869571	1.000000	0.71417	0.999000	0.59377	0.353000	0.29299	9.652000	0.98499	2.519000	0.84933	0.655000	0.94253	CAT		0.373	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		T	63096983	G	T	63096983	3	4	14	1	0	0	0	0	1	0	0	0	4694	1348	47	4	5275	4	DOCK7	1	63096983	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	18649498	63096983	186153638	4	947											
RBM8A	9939	hgsc.bcm.edu	37	1	145507671	145507671	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr1:145507671C>T	ENST00000330165.8	+	1	74	c.5C>T	c.(4-6)gCg>gTg	p.A2V	RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.A2V|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000595494.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	2					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCGAGATGGCGGACGTGCTA	0.597											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													43	32	36					1																	145507671		2203	4296	6499	SO:0001583	missense	9939			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"RNA binding motif (RRM) containing"	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.5C>T	chr1.hg19:g.145507671C>T	ENSP00000333001:p.Ala2Val	1695	B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	hg19	CCDS916.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170105	0.94768	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.16743	2.37;2.32	4.83	3.9	0.45041	.	0.059004	0.64402	D	0.000003	T	0.29652	0.0740	M	0.80847	2.515	0.58432	D	0.999996	D;D	0.76494	0.999;0.994	P;P	0.61940	0.896;0.575	T	0.21008	-1.0258	10	0.87932	D	0	-0.8918	13.1116	0.59277	0.0:0.8376:0.1624:0.0	.	2;2	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	V	2	ENSP00000333001:A2V;ENSP00000358313:A2V	ENSP00000333001:A2V	A	+	2	0	RBM8A	144219028	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	4.593000	0.61034	1.380000	0.46344	0.650000	0.86243	GCG		0.597	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105		T	145507671	C	T	145507671	3	4	14	1	0	0	0	0	1	0	0	0	13152	768	27	1	7	1	RBM8A	1	145507671	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	82410688	145507671	103742950	5	948											
CACNA1E	777	hgsc.bcm.edu	37	1	181727893	181727893	+	Splice_Site	SNP	G	G	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr1:181727893G>T	ENST00000367573.2	+	32	4494		c.e32-1		CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000526775.1_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCCTGGCAGTATTATTCTG	0.483																																																0													212	189	196					1																	181727893		1933	4148	6081	SO:0001630	splice_region_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4495-1G>T	chr1.hg19:g.181727893G>T			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Splice_Site	SNP	ENST00000367573.2	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703404	0.88924	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0045	0.92844	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1E	179994516	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.338000	0.96553	2.583000	0.87209	0.561000	0.74099	.		0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	Intron	T	181727893	G	T	181727893	5	4	14	1	0	0	0	0	0	0	1	0	2544	1043	36	4	4620	4	CACNA1E	1	181727893	Splice_Site	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	36220222	181727893	67522728	6	949											
ZNF648	127665	hgsc.bcm.edu	37	1	182027010	182027010	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr1:182027010C>G	ENST00000339948.3	-	2	343	c.136G>C	c.(136-138)Gag>Cag	p.E46Q		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCGGTGCCCTCTTTTTCGGCC	0.572																																					NSCLC(71;908 1374 5429 20458 35642)											0													94	90	92					1																	182027010		2203	4300	6503	SO:0001583	missense	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.136G>C	chr1.hg19:g.182027010C>G	ENSP00000344129:p.Glu46Gln		B2RP16	Missense_Mutation	SNP	ENST00000339948.3	hg19	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	4.143	0.024840	0.08054	.	.	ENSG00000179930	ENST00000339948	T	0.08546	3.08	2.36	-0.605	0.11623	.	.	.	.	.	T	0.02342	0.0072	N	0.03608	-0.345	0.09310	N	1	B	0.29432	0.244	B	0.14578	0.011	T	0.44711	-0.9310	9	0.13853	T	0.58	.	2.579	0.04814	0.2206:0.3541:0.0:0.4253	.	46	Q5T619	ZN648_HUMAN	Q	46	ENSP00000344129:E46Q	ENSP00000344129:E46Q	E	-	1	0	ZNF648	180293633	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.574000	0.05868	-0.145000	0.11294	-0.140000	0.14226	GAG		0.572	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		G	182027010	C	G	182027010	3	3	14	1	0	0	0	0	1	0	0	0	18068	922	32	4	1574	4	ZNF648	1	182027010	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	299117	182027010	67223611	7	950											
PRG4	10216	hgsc.bcm.edu	37	1	186276990	186276990	+	Silent	SNP	T	T	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr1:186276990T>A	ENST00000445192.2	+	7	2184	c.2139T>A	c.(2137-2139)gcT>gcA	p.A713A	PRG4_ENST00000367486.3_Silent_p.A670A|PRG4_ENST00000367483.4_Silent_p.A672A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.A620A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	713	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAGGGACTGCTCCAACTACCC	0.587																																																0													163	176	172					1																	186276990		2203	4300	6503	SO:0001819	synonymous_variant	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2139T>A	chr1.hg19:g.186276990T>A			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	hg19	CCDS1369.1																																																																																				0.587	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		A	186276990	T	A	186276990	2	1	14	1	0	0	0	0	0	0	0	1	12486	1538	54	5		5	PRG4	1	186276990	Silent	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	4249980	186276990	62973631	8	951											
SLC30A10	55532	hgsc.bcm.edu	37	1	220101416	220101416	+	Missense_Mutation	SNP	C	C	G	rs575895791		TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr1:220101416C>G	ENST00000366926.3	-	1	528	c.367G>C	c.(367-369)Ggg>Cgg	p.G123R	SLC30A10_ENST00000536992.1_Missense_Mutation_p.G123R|SLC30A10_ENST00000536446.1_Intron	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	123					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ACCAACAGCCCCAGGACGCCG	0.701																																					Colon(76;360 1614 43677 51136)											0													6	7	7					1																	220101416		2096	4139	6235	SO:0001583	missense	55532			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.367G>C	chr1.hg19:g.220101416C>G	ENSP00000355893:p.Gly123Arg		Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	hg19	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218613	0.95104	.	.	ENSG00000196660	ENST00000366926;ENST00000536992	T;T	0.67698	-0.28;-0.28	3.83	3.83	0.44106	.	0.068464	0.56097	D	0.000024	D	0.86401	0.5924	H	0.97540	4.025	0.58432	D	0.999998	D	0.65815	0.995	P	0.60345	0.873	D	0.92052	0.5649	9	.	.	.	-26.9391	16.2635	0.82563	0.0:1.0:0.0:0.0	.	123	Q6XR72	ZNT10_HUMAN	R	123	ENSP00000355893:G123R;ENSP00000440627:G123R	.	G	-	1	0	SLC30A10	218168039	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.241000	0.78201	2.120000	0.65058	0.491000	0.48974	GGG		0.701	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		G	220101416	C	G	220101416	3	3	14	1	0	0	0	0	1	0	0	0	14560	623	22	4	1106	4	SLC30A10	1	220101416	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	33824426	220101416	29149205	9	952											
CEP170	9859	hgsc.bcm.edu	37	1	243329104	243329104	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr1:243329104G>A	ENST00000366542.1	-	13	2209	c.2158C>T	c.(2158-2160)Ctt>Ttt	p.L720F	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.L622F|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.L622F	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	720						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCTAAGTGAAGTAGGGTTTTA	0.383																																																0													147	135	138					1																	243329104		1831	4076	5907	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2158C>T	chr1.hg19:g.243329104G>A	ENSP00000355500:p.Leu720Phe		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	hg19	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.417794	0.00188	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543	T;T;T	0.46063	0.9;0.89;0.88	5.25	3.19	0.36642	.	0.544947	0.17645	N	0.166872	T	0.18383	0.0441	N	0.08118	0	0.09310	N	0.999998	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.001;0.001;0.002	T	0.27673	-1.0067	10	0.09590	T	0.72	-0.0301	6.3901	0.21581	0.3865:0.0:0.6135:0.0	.	683;622;622;720	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	F	720;622;622	ENSP00000355500:L720F;ENSP00000355502:L622F;ENSP00000355501:L622F	ENSP00000355500:L720F	L	-	1	0	CEP170	241395727	0.877000	0.30153	0.039000	0.18376	0.213000	0.24496	1.532000	0.36029	0.496000	0.27904	0.484000	0.47621	CTT		0.383	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		A	243329104	G	A	243329104	3	1	14	1	0	0	0	0	1	0	0	0	3252	1029	36	2	2658	2	CEP170	1	243329104	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	23227688	243329104	5921517	10	953											
CGREF1	10669	hgsc.bcm.edu	37	2	27324530	27324530	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr2:27324530T>G	ENST00000260595.5	-	6	861	c.569A>C	c.(568-570)gAa>gCa	p.E190A	CGREF1_ENST00000404694.3_Missense_Mutation_p.E312A|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000402394.1_Missense_Mutation_p.E190A|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E190A|CGREF1_ENST00000405600.1_Missense_Mutation_p.E190A			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	190					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTTTGCTTCTTCTCTGGG	0.572																																																0													113	127	122					2																	27324530		2203	4300	6503	SO:0001583	missense	10669			BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.569A>C	chr2.hg19:g.27324530T>G	ENSP00000260595:p.Glu190Ala		A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	hg19		.	.	.	.	.	.	.	.	.	.	T	9.570	1.120780	0.20877	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.79141	-1.16;-1.16;-1.16;-1.19;-1.24	5.0	-0.767	0.11016	.	1.119980	0.06665	N	0.765091	T	0.66376	0.2783	.	.	.	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.12156	0.007;0.004;0.004	T	0.53641	-0.8410	9	0.48119	T	0.1	-19.8	7.492	0.27466	0.0:0.079:0.4061:0.5149	.	312;190;190	B5MCC9;B5MCP5;Q99674	.;.;CGRE1_HUMAN	A	190;190;190;190;312;190	ENSP00000385452:E190A;ENSP00000386113:E190A;ENSP00000324025:E190A;ENSP00000385574:E312A;ENSP00000260595:E190A	ENSP00000260595:E190A	E	-	2	0	CGREF1	27178034	0.000000	0.05858	0.011000	0.14972	0.004000	0.04260	-0.031000	0.12287	-0.061000	0.13110	-0.817000	0.03123	GAA		0.572	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		G	27324530	T	G	27324530	3	3	14	1	0	0	0	0	1	0	0	0	3307	1783	62	5	583	5	CGREF1	2	27324530	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10		27324530	215874843	11	954											
EIF2AK3	9451	hgsc.bcm.edu	37	2	88926504	88926505	+	Frame_Shift_Ins	INS	-	-	T	rs13034488		TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr2:88926504_88926505insT	ENST00000303236.3	-	1	589_590	c.288_289insA	c.(286-291)acagagfs	p.E97fs	AC062029.1_ENST00000606164.1_RNA|AC062029.1_ENST00000453008.2_RNA|EIF2AK3_ENST00000419748.1_5'Flank	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	97					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GGTCGCAACTCTGTCTCATCGT	0.723																																					GBM(138;671 1851 16235 39058 45249)											0																																										SO:0001589	frameshift_variant	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.289dupA	chr2.hg19:g.88926505_88926505dupT	ENSP00000307235:p.Glu97fs		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Frame_Shift_Ins	INS	ENST00000303236.3	hg19	CCDS33241.1																																																																																				0.723	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		T	88926505	-	T	88926504	7	5	14	1	0	1	1	0	0	0	0	0	5000	922	32	0	3129	0	EIF2AK3	2	88926504	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JK-01A-11D-A42J-10	61601974	88926504	154272869	12	955											
SULT1C4	27233	hgsc.bcm.edu	37	2	108998295	108998295	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr2:108998295C>T	ENST00000272452.2	+	2	573	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	SULT1C4_ENST00000409309.3_Missense_Mutation_p.H83Y	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	83					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGCACCGACTCATCAACGATT	0.398																																																0													141	121	128					2																	108998295		2203	4300	6503	SO:0001583	missense	27233			AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.247C>T	chr2.hg19:g.108998295C>T	ENSP00000272452:p.His83Tyr		Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	hg19	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.590686	0.00126	.	.	ENSG00000198075	ENST00000272452;ENST00000409309	D;D	0.82526	-1.62;-1.62	4.33	2.52	0.30459	Sulfotransferase domain (1);	0.595797	0.15452	N	0.261600	T	0.65616	0.2708	N	0.25957	0.775	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.12837	0.008;0.005;0.006	T	0.49624	-0.8920	10	0.02654	T	1	.	5.8095	0.18457	0.0:0.5749:0.0:0.4251	.	83;83;83	Q08AS5;O75897;Q6PD90	.;ST1C4_HUMAN;.	Y	83	ENSP00000272452:H83Y;ENSP00000387225:H83Y	ENSP00000272452:H83Y	H	+	1	0	SULT1C4	108364727	0.000000	0.05858	0.002000	0.10522	0.071000	0.16799	0.010000	0.13242	0.569000	0.29329	0.609000	0.83330	CAT		0.398	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		T	108998295	C	T	108998295	3	4	14	1	0	0	0	0	1	0	0	0	15384	826	29	2	253	2	SULT1C4	2	108998295	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	20071791	108998295	134201078	13	956											
CNTNAP5	129684	hgsc.bcm.edu	37	2	125192134	125192134	+	Silent	SNP	C	C	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr2:125192134C>G	ENST00000431078.1	+	5	967	c.603C>G	c.(601-603)ctC>ctG	p.L201L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	201	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAGTACTCTCAAAGATGTGA	0.483																																																0													123	118	120					2																	125192134		2000	4194	6194	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.603C>G	chr2.hg19:g.125192134C>G			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	hg19	CCDS46401.1																																																																																				0.483	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			G	125192134	C	G	125192134	2	3	14	1	0	0	0	0	0	0	0	1	3652	813	29	4		4	CNTNAP5	2	125192134	Silent	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	16193839	125192134	118007239	14	957											
CCDC115	84317	hgsc.bcm.edu	37	2	131099478	131099478	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr2:131099478C>T	ENST00000259229.2	-	2	374	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CCDC115_ENST00000409127.1_Missense_Mutation_p.A46T|IMP4_ENST00000409935.1_5'Flank|IMP4_ENST00000259239.3_5'Flank|CCDC115_ENST00000437688.2_Missense_Mutation_p.A46T	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	51						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					ACCGACTTGGCGCCCATCGCG	0.672																																																0													37	40	39					2																	131099478		2203	4300	6503	SO:0001583	missense	84317			AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.151G>A	chr2.hg19:g.131099478C>T	ENSP00000259229:p.Ala51Thr		B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	hg19	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	C	0.224	-1.026510	0.02045	.	.	ENSG00000136710	ENST00000259229;ENST00000409127;ENST00000437688	D;D;D	0.93488	-3.23;-3.23;-3.23	4.81	3.93	0.45458	.	0.385448	0.29034	N	0.013355	D	0.90721	0.7088	M	0.72118	2.19	0.23356	N	0.997847	B;B;B;B	0.24132	0.023;0.006;0.098;0.023	B;B;B;B	0.17433	0.018;0.011;0.018;0.018	T	0.76801	-0.2825	10	0.14252	T	0.57	-10.8785	12.2248	0.54453	0.0:0.9104:0.0:0.0896	.	46;51;51;46	B4DJ47;F8WCZ3;Q96NT0;B8ZZ99	.;.;CC115_HUMAN;.	T	51;46;46	ENSP00000259229:A51T;ENSP00000387301:A46T;ENSP00000399756:A46T	ENSP00000259229:A51T	A	-	1	0	CCDC115	130815948	0.527000	0.26306	0.976000	0.42696	0.085000	0.17905	0.339000	0.19875	0.761000	0.33130	-0.797000	0.03246	GCC		0.672	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357		T	131099478	C	T	131099478	3	4	14	1	0	0	0	0	1	0	0	0	2754	768	27	1	407	1	CCDC115	2	131099478	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	5907344	131099478	112099895	15	958											
BAP1	8314	hgsc.bcm.edu	37	3	52441229	52441230	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr3:52441229_52441230delAG	ENST00000460680.1	-	7	1011_1012	c.540_541delCT	c.(538-543)ctctttfs	p.F181fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.F181fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCCAGCTCAAAGAGCCGGCCTG	0.599			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0																																										SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.540_541delCT	chr3.hg19:g.52441231_52441232delAG	ENSP00000417132:p.Phe181fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	hg19	CCDS2853.1																																																																																				0.599	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52441230	AG	-	52441229	7	5	14	1	0	1	0	1	0	0	0	0	1311	72	3	0	1692	0	BAP1	3	52441229	Frame_Shift_Del	DEL	AG	TCGA-2Z-A9JK-01A-11D-A42J-10		52441229	145581201	16	959											
XRN1	54464	hgsc.bcm.edu	37	3	142137718	142137718	+	Silent	SNP	C	C	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr3:142137718C>T	ENST00000264951.4	-	11	1296	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	XRN1_ENST00000544157.1_Silent_p.Q183Q|RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000392981.2_Silent_p.Q393Q|XRN1_ENST00000463916.1_Silent_p.Q393Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	393					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAGAATTTTCCTGGCCCTGTA	0.333																																																0													83	82	83					3																	142137718		2202	4298	6500	SO:0001819	synonymous_variant	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1179G>A	chr3.hg19:g.142137718C>T			Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	hg19	CCDS3123.1																																																																																				0.333	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		T	142137718	C	T	142137718	2	4	14	1	0	0	0	0	0	0	0	1	17464	680	24	2		2	XRN1	3	142137718	Silent	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	89696489	142137718	55884712	17	960											
PPARGC1A	10891	hgsc.bcm.edu	37	4	23886468	23886468	+	Silent	SNP	A	A	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr4:23886468A>G	ENST00000264867.2	-	2	260	c.141T>C	c.(139-141)gaT>gaC	p.D47D	PPARGC1A_ENST00000509702.1_5'Flank|PPARGC1A_ENST00000507380.1_Silent_p.D47D	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	47					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGCTGTCTGTATCCAAGTCGT	0.453																																					Esophageal Squamous(29;694 744 13796 34866 44181)											0													105	96	99					4																	23886468		2203	4300	6503	SO:0001819	synonymous_variant	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.141T>C	chr4.hg19:g.23886468A>G			B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	hg19	CCDS3429.1																																																																																				0.453	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		G	23886468	A	G	23886468	2	3	14	1	0	0	0	0	0	0	0	1	12302	446	16	3		3	PPARGC1A	4	23886468	Silent	SNP	A	TCGA-2Z-A9JK-01A-11D-A42J-10		23886468	167267808	18	961											
TMPRSS11D	9407	hgsc.bcm.edu	37	4	68699085	68699085	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr4:68699085G>C	ENST00000283916.6	-	7	627	c.529C>G	c.(529-531)Cca>Gca	p.P177A	TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.P60A|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	177					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTAGGTCTGGACCGGCCCCA	0.473																																																0													119	112	115					4																	68699085		2203	4300	6503	SO:0001583	missense	9407			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.529C>G	chr4.hg19:g.68699085G>C	ENSP00000283916:p.Pro177Ala		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	hg19	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081750	0.36758	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88354	-2.37;-2.33	5.6	0.928	0.19443	Peptidase cysteine/serine, trypsin-like (1);	0.225492	0.31612	N	0.007344	T	0.69655	0.3135	N	0.08118	0	0.25528	N	0.987309	B	0.30406	0.278	B	0.30179	0.112	T	0.59616	-0.7421	10	0.10636	T	0.68	.	3.9107	0.09202	0.337:0.0:0.5055:0.1575	.	177	O60235	TM11D_HUMAN	A	177;60	ENSP00000283916:P177A;ENSP00000442045:P60A	ENSP00000283916:P177A	P	-	1	0	TMPRSS11D	68381680	0.020000	0.18652	0.951000	0.38953	0.767000	0.43475	0.094000	0.15107	0.053000	0.16036	-0.142000	0.14014	CCA		0.473	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		C	68699085	G	C	68699085	3	2	14	1	0	0	0	0	1	0	0	0	16246	1174	41	4	743	4	TMPRSS11D	4	68699085	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	44812617	68699085	122455191	19	962											
C4orf3	401152	hgsc.bcm.edu	37	4	120221611	120221611	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr4:120221611T>G	ENST00000504110.1	-	1	465	c.80A>C	c.(79-81)aAc>aCc	p.N27T	C4orf3_ENST00000399075.4_Missense_Mutation_p.N160T	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	27						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						CACATCGAAGTTCTGCCTCCC	0.572																																																0													159	168	165					4																	120221611		2000	4164	6164	SO:0001583	missense	401152				CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"HCV F-transactivated protein 1"						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.80A>C	chr4.hg19:g.120221611T>G	ENSP00000427214:p.Asn27Thr		Q6J203	Missense_Mutation	SNP	ENST00000504110.1	hg19	CCDS43266.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774317	0.49786	.	.	ENSG00000164096	ENST00000399075;ENST00000504110	T;T	0.36340	1.26;1.29	4.91	-3.88	0.04205	.	1.224740	0.06070	N	0.659986	T	0.25044	0.0608	.	.	.	0.26239	N	0.978893	B	0.24368	0.102	B	0.24701	0.055	T	0.42982	-0.9419	8	0.72032	D	0.01	0.36	5.526	0.16959	0.0:0.3354:0.2671:0.3975	.	27	Q8WVX3	CD003_HUMAN	T	160;27	ENSP00000382026:N160T;ENSP00000427214:N27T	ENSP00000382026:N160T	N	-	2	0	C4orf3	120441059	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-0.401000	0.07232	-0.254000	0.09500	0.460000	0.39030	AAC		0.572	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364576.3	NM_001001701		G	120221611	T	G	120221611	3	3	14	1	0	0	0	0	1	0	0	0	2262	1725	60	5	128	5	C4orf3	4	120221611	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	51522526	120221611	70932665	20	963											
CMYA5	202333	hgsc.bcm.edu	37	5	79041105	79041106	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr5:79041105_79041106insT	ENST00000446378.2	+	4	10826_10827	c.10795_10796insT	c.(10795-10797)gttfs	p.V3599fs		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3599	B-box coiled-coil; BBC.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATGAAGAAGGTTTTAGCACAG	0.401																																																0																																										SO:0001589	frameshift_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10799dupT	chr5.hg19:g.79041109_79041109dupT	ENSP00000394770:p.Val3599fs		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Frame_Shift_Ins	INS	ENST00000446378.2	hg19	CCDS47238.1																																																																																				0.401	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		T	79041106	-	T	79041105	7	5	14	1	0	1	1	0	0	0	0	0	3592	1261	44	0	10809	0	CMYA5	5	79041105	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JK-01A-11D-A42J-10		79041105	101874155	21	964											
PCSK1	5122	hgsc.bcm.edu	37	5	95768715	95768715	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr5:95768715G>A	ENST00000311106.3	-	1	269	c.32C>T	c.(31-33)aCt>aTt	p.T11I	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_5'Flank	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	11					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GACGAAAGCAGTGCACTGCAG	0.522																																																0													122	128	126					5																	95768715		2203	4300	6503	SO:0001583	missense	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.32C>T	chr5.hg19:g.95768715G>A	ENSP00000308024:p.Thr11Ile		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	hg19	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	1.548	-0.540118	0.04053	.	.	ENSG00000175426	ENST00000311106;ENST00000509190	T;T	0.62639	0.01;0.58	5.24	3.43	0.39272	.	0.676173	0.16441	N	0.214310	T	0.38134	0.1029	N	0.13003	0.285	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.16012	-1.0417	10	0.12766	T	0.61	-2.7841	6.8983	0.24269	0.3283:0.0:0.6717:0.0	.	11	P29120	NEC1_HUMAN	I	11	ENSP00000308024:T11I;ENSP00000427294:T11I	ENSP00000308024:T11I	T	-	2	0	PCSK1	95794471	0.059000	0.20769	0.005000	0.12908	0.831000	0.47069	1.742000	0.38248	1.439000	0.47511	0.655000	0.94253	ACT		0.522	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		A	95768715	G	A	95768715	3	1	14	1	0	0	0	0	1	0	0	0	11602	1029	36	2	2328	2	PCSK1	5	95768715	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	16727610	95768715	85146545	22	965											
SEMA6A	57556	hgsc.bcm.edu	37	5	115803312	115803312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr5:115803312delC	ENST00000343348.6	-	18	2648	c.1861delG	c.(1861-1863)gcafs	p.A621fs	SEMA6A_ENST00000513137.1_Frame_Shift_Del_p.A48fs|SEMA6A_ENST00000257414.8_Frame_Shift_Del_p.A638fs|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.A621fs|SEMA6A_ENST00000282394.6_Intron|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	621					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GAAGACACTGCCCCCAAAGGG	0.542																																																0													81	79	80					5																	115803312		1974	4167	6141	SO:0001589	frameshift_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1861delG	chr5.hg19:g.115803312delC	ENSP00000345512:p.Ala621fs		Q9P2H9	Frame_Shift_Del	DEL	ENST00000343348.6	hg19	CCDS47256.1																																																																																				0.542	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		-	115803312	C	-	115803312	7	5	14	1	0	1	0	1	0	0	0	0	14045	739	26	0	1239	0	SEMA6A	5	115803312	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JK-01A-11D-A42J-10	20034597	115803312	65111948	23	966											
CEP120	153241	hgsc.bcm.edu	37	5	122682287	122682287	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr5:122682287G>A	ENST00000306467.5	-	20	3191	c.2887C>T	c.(2887-2889)Cac>Tac	p.H963Y	CEP120_ENST00000306481.6_Missense_Mutation_p.H937Y|CEP120_ENST00000328236.5_Missense_Mutation_p.H963Y			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	963					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CGATCCTCGTGATTATACACA	0.403																																																0													171	170	171					5																	122682287		2203	4300	6503	SO:0001583	missense	153241			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2887C>T	chr5.hg19:g.122682287G>A	ENSP00000303058:p.His963Tyr		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	hg19	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497201	0.64186	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481	T;T;T	0.19394	2.15;2.15;2.15	5.27	5.27	0.74061	.	0.000000	0.64402	U	0.000002	T	0.30978	0.0782	L	0.46157	1.445	0.80722	D	1	D	0.62365	0.991	P	0.53518	0.728	T	0.00878	-1.1530	10	0.34782	T	0.22	-10.3632	15.2858	0.73828	0.0:0.0:0.8595:0.1405	.	963	Q8N960	CE120_HUMAN	Y	963;963;937	ENSP00000303058:H963Y;ENSP00000327504:H963Y;ENSP00000307419:H937Y	ENSP00000303058:H963Y	H	-	1	0	CEP120	122710186	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.378000	0.73150	2.476000	0.83614	0.655000	0.94253	CAC		0.403	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		A	122682287	G	A	122682287	3	1	14	1	0	0	0	0	1	0	0	0	3248	1290	45	2	77	2	CEP120	5	122682287	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	6878975	122682287	58232973	24	967											
DOCK2	1794	hgsc.bcm.edu	37	5	169463521	169463521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr5:169463521delT	ENST00000256935.8	+	36	3707	c.3627delT	c.(3625-3627)aatfs	p.N1209fs	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Del_p.N701fs|DOCK2_ENST00000540750.1_Frame_Shift_Del_p.N270fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1209	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTACCTAGAATTTCTACAAAG	0.418																																																0													139	136	137					5																	169463521		2203	4300	6503	SO:0001589	frameshift_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3627delT	chr5.hg19:g.169463521delT	ENSP00000256935:p.Asn1209fs		Q2M3I0|Q96AK7	Frame_Shift_Del	DEL	ENST00000256935.8	hg19	CCDS4371.1																																																																																				0.418	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		-	169463521	T	-	169463521	7	5	14	1	0	1	0	1	0	0	0	0	4689	1490	52	0	3769	0	DOCK2	5	169463521	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JK-01A-11D-A42J-10	46781234	169463521	11451739	25	968	9	3									
DOCK2	1794	hgsc.bcm.edu	37	5	169463522	169463523	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr5:169463522_169463523delTT	ENST00000256935.8	+	36	3708_3709	c.3628_3629delTT	c.(3628-3630)ttcfs	p.F1210fs	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Del_p.F702fs|DOCK2_ENST00000540750.1_Frame_Shift_Del_p.F271fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1210	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACCTAGAATTTCTACAAAGAT	0.411																																																0																																										SO:0001589	frameshift_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3628_3629delTT	chr5.hg19:g.169463522_169463523delTT	ENSP00000256935:p.Phe1210fs		Q2M3I0|Q96AK7	Frame_Shift_Del	DEL	ENST00000256935.8	hg19	CCDS4371.1																																																																																				0.411	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		-	169463523	TT	-	169463522	7	5	14	1	0	1	0	1	0	0	0	0	4689	1841	64	0	3770	0	DOCK2	5	169463522	Frame_Shift_Del	DEL	TT	TCGA-2Z-A9JK-01A-11D-A42J-10	1	169463522	11451738	26	969	9	3									
DOCK2	1794	hgsc.bcm.edu	37	5	169463523	169463523	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr5:169463523T>A	ENST00000256935.8	+	36	3709	c.3629T>A	c.(3628-3630)tTc>tAc	p.F1210Y	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.F702Y|DOCK2_ENST00000540750.1_Missense_Mutation_p.F271Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1210	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTAGAATTTCTACAAAGAT	0.413																																																0													138	135	136					5																	169463523		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3629T>A	chr5.hg19:g.169463523T>A	ENSP00000256935:p.Phe1210Tyr		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394444	0.83011	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.56444	0.46;0.46;0.46	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	L	0.58925	1.835	0.48185	D	0.999609	D;B	0.52996	0.957;0.053	P;B	0.50617	0.646;0.035	T	0.54906	-0.8223	10	0.22109	T	0.4	.	15.5299	0.75952	0.0:0.0:0.0:1.0	.	702;1210	E7ERW7;Q92608	.;DOCK2_HUMAN	Y	1210;702;271	ENSP00000256935:F1210Y;ENSP00000429283:F702Y;ENSP00000438827:F271Y	ENSP00000256935:F1210Y	F	+	2	0	DOCK2	169396101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.216000	0.77974	2.147000	0.66899	0.533000	0.62120	TTC		0.413	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169463523	T	A	169463523	3	1	14	1	0	0	0	0	1	0	0	0	4689	1783	62	5	3771	5	DOCK2	5	169463523	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	1	169463523	11451737	27	970	9	3									
GPR116	221395	hgsc.bcm.edu	37	6	46836697	46836697	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr6:46836697C>A	ENST00000283296.7	-	12	1832	c.1544G>T	c.(1543-1545)aGa>aTa	p.R515I	GPR116_ENST00000362015.4_Missense_Mutation_p.R515I|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000265417.7_Missense_Mutation_p.R515I|GPR116_ENST00000456426.2_Missense_Mutation_p.R373I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	515	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGTATAAAATCTTTGGTATAT	0.418																																					NSCLC(59;410 1274 8751 36715 50546)											0													99	101	100					6																	46836697		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1544G>T	chr6.hg19:g.46836697C>A	ENSP00000283296:p.Arg515Ile		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	hg19	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634757	0.29068	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.47	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.789290	0.11856	N	0.522870	T	0.05593	0.0147	N	0.24115	0.695	0.58432	D	0.999999	B;P;P;P	0.45126	0.346;0.533;0.851;0.533	B;B;B;B	0.37650	0.052;0.183;0.255;0.183	T	0.32666	-0.9898	10	0.56958	D	0.05	-8.9279	12.8097	0.57634	0.0:0.1961:0.0:0.8039	.	70;515;373;515	B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;GP116_HUMAN	I	515;515;515;373;515	ENSP00000283296:R515I;ENSP00000354563:R515I;ENSP00000412866:R373I;ENSP00000265417:R515I	ENSP00000265417:R515I	R	-	2	0	GPR116	46944656	0.851000	0.29673	0.344000	0.25628	0.337000	0.28794	0.065000	0.14466	-0.513000	0.06496	0.591000	0.81541	AGA		0.418	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		A	46836697	C	A	46836697	3	1	14	1	0	0	0	0	1	0	0	0	6635	913	32	4	2536	4	GPR116	6	46836697	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10		46836697	124278370	28	971											
KATNA1	11104	hgsc.bcm.edu	37	6	149922828	149922828	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr6:149922828T>A	ENST00000335647.5	-	6	834	c.790A>T	c.(790-792)Aca>Tca	p.T264S	KATNA1_ENST00000335643.8_Missense_Mutation_p.T188S|KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000367411.2_Missense_Mutation_p.T264S					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TTGCATTCTGTAGCTACTGCT	0.453																																																0													116	105	109					6																	149922828		2203	4300	6503	SO:0001583	missense	11104			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"ATPases / AAA-type"	6216	protein-coding gene	gene with protein product		606696	"katanin p60 (ATPase-containing) subunit A 1"			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.790A>T	chr6.hg19:g.149922828T>A	ENSP00000335106:p.Thr264Ser			Missense_Mutation	SNP	ENST00000335647.5	hg19	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.007563	0.93287	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411;ENST00000444282	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.85	5.85	0.93711	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.87605	0.6219	N	0.04355	-0.22	0.80722	D	1	D;B;D	0.89917	0.991;0.282;1.0	D;B;D	0.97110	0.973;0.317;1.0	D	0.89105	0.3492	9	.	.	.	.	16.2365	0.82377	0.0:0.0:0.0:1.0	.	264;188;264	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	S	264;188;264;264	ENSP00000335106:T264S;ENSP00000335180:T188S;ENSP00000356381:T264S;ENSP00000390322:T264S	.	T	-	1	0	KATNA1	149964521	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.013000	0.88655	2.238000	0.73509	0.477000	0.44152	ACA		0.453	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		A	149922828	T	A	149922828	3	1	14	1	0	0	0	0	1	0	0	0	7986	1638	57	5	705	5	KATNA1	6	149922828	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	103086131	149922828	21192239	29	972											
TIAM2	26230	hgsc.bcm.edu	37	6	155572110	155572110	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr6:155572110C>A	ENST00000461783.3	+	24	5288	c.4015C>A	c.(4015-4017)Ctg>Atg	p.L1339M	TIAM2_ENST00000275246.7_Missense_Mutation_p.L264M|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000360366.4_Missense_Mutation_p.L1363M|TIAM2_ENST00000318981.5_Missense_Mutation_p.L1339M|TIAM2_ENST00000529824.2_Missense_Mutation_p.L1368M|TIAM2_ENST00000456877.2_Missense_Mutation_p.L651M|TIAM2_ENST00000456144.1_Missense_Mutation_p.L1368M|TIAM2_ENST00000528391.2_Missense_Mutation_p.L675M|TIAM2_ENST00000367174.2_Missense_Mutation_p.L715M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1339					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1339L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAATCCATTTCTGTCTCTAGG	0.428																																																1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											166	158	160					6																	155572110		2203	4300	6503	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4015C>A	chr6.hg19:g.155572110C>A	ENSP00000437188:p.Leu1339Met		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	hg19	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186124	0.57909	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T;T	0.08458	3.56;3.5;3.56;3.56;3.39;3.56;3.56;3.39;3.39;3.09	5.43	3.65	0.41850	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.152382	0.42964	D	0.000622	T	0.03739	0.0106	N	0.08118	0	0.27056	N	0.963673	P;D;D;D	0.65815	0.944;0.995;0.995;0.991	P;P;P;P	0.62560	0.497;0.904;0.861;0.73	T	0.29941	-0.9995	10	0.46703	T	0.11	.	7.1279	0.25482	0.0:0.709:0.1414:0.1496	.	675;1368;1363;1339	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	M	1339;1585;1339;1368;1339;715;1363;1368;651;675;264	ENSP00000437188:L1339M;ENSP00000434901:L1339M;ENSP00000407746:L1368M;ENSP00000327315:L1339M;ENSP00000356142:L715M;ENSP00000353528:L1363M;ENSP00000433348:L1368M;ENSP00000407183:L651M;ENSP00000435335:L675M;ENSP00000275246:L264M	ENSP00000275246:L264M	L	+	1	2	TIAM2	155613802	0.939000	0.31865	1.000000	0.80357	0.997000	0.91878	0.940000	0.28992	1.312000	0.45043	0.655000	0.94253	CTG		0.428	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		A	155572110	C	A	155572110	3	1	14	1	0	0	0	0	1	0	0	0	15896	912	32	4	4089	4	TIAM2	6	155572110	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	5649282	155572110	15542957	30	973											
TMEM106B	54664	hgsc.bcm.edu	37	7	12254528	12254528	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr7:12254528T>G	ENST00000396667.3	+	3	414	c.92T>G	c.(91-93)gTt>gGt	p.V31G	TMEM106B_ENST00000396668.3_Missense_Mutation_p.V31G|TMEM106B_ENST00000453686.1_3'UTR	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	31					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AATGGACTGGTTAATAGTGAA	0.393																																																0													112	103	106					7																	12254528		2203	4300	6503	SO:0001583	missense	54664			BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.92T>G	chr7.hg19:g.12254528T>G	ENSP00000379901:p.Val31Gly		A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	hg19	CCDS5358.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612576	0.28712	.	.	ENSG00000106460	ENST00000396668;ENST00000444443;ENST00000396667	T;T;T	0.21543	2.0;2.0;2.0	5.41	5.41	0.78517	.	0.496686	0.20899	N	0.083673	T	0.16300	0.0392	N	0.22421	0.69	0.58432	D	0.999995	B	0.22909	0.077	B	0.33392	0.163	T	0.13072	-1.0523	10	0.23891	T	0.37	-18.5982	10.1599	0.42844	0.0:0.0745:0.0:0.9255	.	31	Q9NUM4	T106B_HUMAN	G	31	ENSP00000379902:V31G;ENSP00000401302:V31G;ENSP00000379901:V31G	ENSP00000379901:V31G	V	+	2	0	TMEM106B	12221053	0.996000	0.38824	0.980000	0.43619	0.448000	0.32197	3.752000	0.55172	2.197000	0.70478	0.533000	0.62120	GTT		0.393	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		G	12254528	T	G	12254528	3	3	14	1	0	0	0	0	1	0	0	0	16026	1725	60	5	94	5	TMEM106B	7	12254528	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10		12254528	146884135	31	974											
VKORC1L1	154807	hgsc.bcm.edu	37	7	65413712	65413713	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr7:65413712_65413713delAA	ENST00000360768.3	+	2	354_355	c.249_250delAA	c.(247-252)ttaaacfs	p.N84fs	VKORC1L1_ENST00000434382.2_Intron	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	84					cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)	ATGGTGTATTAAACCAGCCAAA	0.317																																																0																																										SO:0001589	frameshift_variant	154807				CCDS5529.1, CCDS64663.1	7q11.21	2013-10-07			ENSG00000196715	ENSG00000196715			21492	protein-coding gene	gene with protein product		608838				23928358	Standard	NM_001284342		Approved		uc003tul.3	Q8N0U8	OTTHUMG00000129449	ENST00000360768.3:c.249_250delAA	chr7.hg19:g.65413712_65413713delAA	ENSP00000353998:p.Asn84fs		B4E222|E7ETM5|Q6AHW9|Q6TEK6	Frame_Shift_Del	DEL	ENST00000360768.3	hg19	CCDS5529.1																																																																																				0.317	VKORC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251612.3	NM_173517		-	65413713	AA	-	65413712	7	5	14	1	0	1	0	1	0	0	0	0	17178	359	13	0	255	0	VKORC1L1	7	65413712	Frame_Shift_Del	DEL	AA	TCGA-2Z-A9JK-01A-11D-A42J-10	53159184	65413712	93724951	32	975											
MFHAS1	9258	hgsc.bcm.edu	37	8	8747815	8747815	+	Silent	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr8:8747815G>A	ENST00000276282.6	-	1	3340	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	918										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCCCTCTATAGGCAAAGATCT	0.483																																					Melanoma(103;1201 2045 17515 28966)											0													80	82	81					8																	8747815		2203	4300	6503	SO:0001819	synonymous_variant	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2754C>T	chr8.hg19:g.8747815G>A			Q96CI0	Silent	SNP	ENST00000276282.6	hg19	CCDS34844.1																																																																																				0.483	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		A	8747815	G	A	8747815	2	1	14	1	0	0	0	0	0	0	0	1	9523	987	35	2		2	MFHAS1	8	8747815	Silent	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10		8747815	137616207	33	976											
PDLIM2	64236	hgsc.bcm.edu	37	8	22442384	22442384	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr8:22442384T>C	ENST00000397760.4	+	4	696	c.296T>C	c.(295-297)gTg>gCg	p.V99A	PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000339162.7_Missense_Mutation_p.V99A|PDLIM2_ENST00000308354.7_Missense_Mutation_p.V349A|PDLIM2_ENST00000265810.4_Missense_Mutation_p.V99A|PDLIM2_ENST00000409141.1_Missense_Mutation_p.V99A|PDLIM2_ENST00000397761.2_Missense_Mutation_p.V99A|PDLIM2_ENST00000409417.1_Missense_Mutation_p.V99A			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	99						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		TCCTTGGAAGTGCTGGCGACT	0.627																																																0													133	104	114					8																	22442384		2203	4300	6503	SO:0001583	missense	64236			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.296T>C	chr8.hg19:g.22442384T>C	ENSP00000380867:p.Val99Ala		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	hg19		.	.	.	.	.	.	.	.	.	.	T	10.93	1.490481	0.26686	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000381194;ENST00000397761;ENST00000436754;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	T;T;T;T;T;T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8	4.64	3.46	0.39613	.	0.669254	0.14051	N	0.344789	T	0.10294	0.0252	M	0.65975	2.015	0.25771	N	0.984832	P;P;B;B	0.36837	0.571;0.571;0.043;0.255	B;B;B;B	0.33392	0.163;0.163;0.027;0.078	T	0.16660	-1.0395	10	0.07030	T	0.85	-10.5924	8.8203	0.35020	0.0:0.0:0.1903:0.8097	.	99;99;99;99	Q96JY6-3;Q96JY6-4;Q96JY6;C9JS55	.;.;PDLI2_HUMAN;.	A	99;349;99;99;99;99;99;99;99;99;99;99;99	ENSP00000401992:V99A;ENSP00000312634:V349A;ENSP00000394376:V99A;ENSP00000380867:V99A;ENSP00000342035:V99A;ENSP00000380868:V99A;ENSP00000397738:V99A;ENSP00000392920:V99A;ENSP00000407643:V99A;ENSP00000386868:V99A;ENSP00000265810:V99A;ENSP00000387084:V99A	ENSP00000265810:V99A	V	+	2	0	PDLIM2	22498329	0.202000	0.23423	0.987000	0.45799	0.658000	0.38924	0.550000	0.23345	0.856000	0.35383	0.482000	0.46254	GTG		0.627	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			C	22442384	T	C	22442384	3	2	14	1	0	0	0	0	1	0	0	0	11682	1696	59	3	306	3	PDLIM2	8	22442384	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	13694569	22442384	123921638	34	977											
RP1	6101	hgsc.bcm.edu	37	8	55538963	55538963	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr8:55538963G>A	ENST00000220676.1	+	4	2669	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	841					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCTCAAGCAGAAGTGGCATC	0.323																																					Colon(91;1014 1389 7634 14542 40420)											0													43	46	45					8																	55538963		2201	4300	6501	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2521G>A	chr8.hg19:g.55538963G>A	ENSP00000220676:p.Glu841Lys			Missense_Mutation	SNP	ENST00000220676.1	hg19	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159150	0.38119	.	.	ENSG00000104237	ENST00000220676	T	0.60424	0.19	4.91	4.02	0.46733	.	0.613701	0.15204	N	0.274879	T	0.49406	0.1555	M	0.62723	1.935	0.09310	N	0.999995	P	0.37441	0.595	B	0.31290	0.127	T	0.53464	-0.8435	10	0.72032	D	0.01	-10.8547	8.0414	0.30523	0.227:0.0:0.773:0.0	.	841	P56715	RP1_HUMAN	K	841	ENSP00000220676:E841K	ENSP00000220676:E841K	E	+	1	0	RP1	55701516	0.996000	0.38824	0.220000	0.23810	0.508000	0.34012	2.176000	0.42500	2.642000	0.89623	0.655000	0.94253	GAA		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		A	55538963	G	A	55538963	3	1	14	1	0	0	0	0	1	0	0	0	13538	943	33	2	2531	2	RP1	8	55538963	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	33096579	55538963	90825059	35	978											
LAPTM4B	55353	hgsc.bcm.edu	37	8	98788210	98788210	+	Silent	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr8:98788210G>A	ENST00000445593.2	+	1	926	c.246G>A	c.(244-246)gcG>gcA	p.A82A	LAPTM4B_ENST00000521545.2_5'UTR|RNU7-177P_ENST00000517101.1_RNA	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	135					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			AAACTTGCGCGCGCGCTCGCG	0.736																																																0													8	9	9					8																	98788210		2092	4153	6245	SO:0001819	synonymous_variant	55353			AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000445593.2:c.246G>A	chr8.hg19:g.98788210G>A			Q3ZCV5|Q7L909|Q86VH8|Q9H060	Silent	SNP	ENST00000445593.2	hg19	CCDS6275.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933237	0.34096	.	.	ENSG00000104341	ENST00000517924	.	.	.	3.43	2.54	0.30619	.	.	.	.	.	T	0.52484	0.1737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43572	-0.9383	4	.	.	.	-0.9742	5.4195	0.16392	0.1221:0.2784:0.5995:0.0	.	.	.	.	H	45	.	.	R	+	2	0	LAPTM4B	98857386	0.368000	0.25031	0.934000	0.37439	0.097000	0.18754	3.208000	0.51114	0.762000	0.33152	0.643000	0.83706	CGC		0.736	LAPTM4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380014.1			A	98788210	G	A	98788210	2	1	14	1	0	0	0	0	0	0	0	1	8627	1074	38	1		1	LAPTM4B	8	98788210	Silent	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	43249247	98788210	47575812	36	979											
SMC2	10592	hgsc.bcm.edu	37	9	106882315	106882315	+	Silent	SNP	A	A	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr9:106882315A>T	ENST00000286398.7	+	16	2292	c.2004A>T	c.(2002-2004)cgA>cgT	p.R668R	SMC2_ENST00000374787.3_Silent_p.R668R|SMC2_ENST00000374793.3_Silent_p.R668R|SMC2_ENST00000303219.8_Silent_p.R668R	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	668	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CAGGTGCTCGATCCCAGGCAG	0.393																																																0													124	131	129					9																	106882315		2203	4300	6503	SO:0001819	synonymous_variant	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2004A>T	chr9.hg19:g.106882315A>T			Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	hg19	CCDS35086.1																																																																																				0.393	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			T	106882315	A	T	106882315	2	4	14	1	0	0	0	0	0	0	0	1	14789	320	12	5		5	SMC2	9	106882315	Silent	SNP	A	TCGA-2Z-A9JK-01A-11D-A42J-10		106882315	34331116	37	980											
SH2D3C	10044	hgsc.bcm.edu	37	9	130511796	130511796	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr9:130511796T>C	ENST00000314830.8	-	5	946	c.833A>G	c.(832-834)tAc>tGc	p.Y278C	SH2D3C_ENST00000373277.4_Missense_Mutation_p.Y121C|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373276.3_Missense_Mutation_p.Y210C|SH2D3C_ENST00000420366.1_Missense_Mutation_p.Y120C|SH2D3C_ENST00000373274.3_Missense_Mutation_p.Y118C	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	278	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATGTGTGTGTAGCTCTCGCC	0.592																																																0													95	81	86					9																	130511796		2203	4300	6503	SO:0001583	missense	10044			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.833A>G	chr9.hg19:g.130511796T>C	ENSP00000317817:p.Tyr278Cys		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	hg19	CCDS6877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.88|18.88	3.717121|3.717121	0.68844|0.68844	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000440630|ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000314830;ENST00000414380	.|T;T;T;T;T;T	.|0.43294	.|2.38;2.38;2.13;2.39;2.35;0.95	5.67|5.67	5.67|5.67	0.87782|0.87782	.|SH2 motif (4);	.|0.341438	.|0.31268	.|N	.|0.007942	T|T	0.58524|0.58524	0.2128|0.2128	M|M	0.63169|0.63169	1.94|1.94	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.71674	.|0.996;0.998;0.998;0.992;0.998	.|D;D;P;P;D	.|0.67231	.|0.926;0.95;0.815;0.719;0.917	T|T	0.61903|0.61903	-0.6967|-0.6967	5|10	.|0.72032	.|D	.|0.01	0.3469|0.3469	11.0757|11.0757	0.48030|0.48030	0.0:0.0746:0.0:0.9254|0.0:0.0746:0.0:0.9254	.|.	.|118;278;210;121;120	.|E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.|.;SH2D3_HUMAN;.;.;.	A|C	115|121;120;210;118;278;95	.|ENSP00000362374:Y121C;ENSP00000388536:Y120C;ENSP00000362373:Y210C;ENSP00000362371:Y118C;ENSP00000317817:Y278C;ENSP00000413760:Y95C	.|ENSP00000317817:Y278C	T|Y	-|-	1|2	0|0	SH2D3C|SH2D3C	129551617|129551617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.686000|1.686000	0.37669|0.37669	2.169000|2.169000	0.68431|0.68431	0.459000|0.459000	0.35465|0.35465	ACA|TAC		0.592	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		C	130511796	T	C	130511796	3	2	14	1	0	0	0	0	1	0	0	0	14240	1638	57	3	1781	3	SH2D3C	9	130511796	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	23629481	130511796	10701635	38	981											
HERC4	26091	hgsc.bcm.edu	37	10	69749982	69749982	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr10:69749982G>A	ENST00000395198.3	-	14	1866	c.1619C>T	c.(1618-1620)cCa>cTa	p.P540L	HERC4_ENST00000373700.4_Missense_Mutation_p.P540L|HERC4_ENST00000412272.2_Missense_Mutation_p.P540L|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.P430L	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	540					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TACTTTCAGTGGTGCCTTTTC	0.353																																																0													90	88	89					10																	69749982		2203	4300	6503	SO:0001583	missense	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1619C>T	chr10.hg19:g.69749982G>A	ENSP00000378624:p.Pro540Leu		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	hg19	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711019	0.89112	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.46819	1.14;0.86;0.89;0.89	5.53	5.53	0.82687	.	0.050900	0.85682	D	0.000000	T	0.65365	0.2684	M	0.69185	2.1	0.80722	D	1	D;P;B;P;D;P	0.63046	0.992;0.694;0.024;0.952;0.972;0.918	P;B;B;P;P;P	0.58721	0.826;0.379;0.016;0.703;0.844;0.613	T	0.68209	-0.5469	10	0.87932	D	0	.	19.4511	0.94867	0.0:0.0:1.0:0.0	.	540;430;540;390;540;540	Q5GLZ8-3;Q5GLZ8-6;A8K9U4;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;.;HERC4_HUMAN	L	430;540;540;540	ENSP00000277817:P430L;ENSP00000416504:P540L;ENSP00000378624:P540L;ENSP00000362804:P540L	ENSP00000277817:P430L	P	-	2	0	HERC4	69419988	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.930000	0.92872	2.599000	0.87857	0.591000	0.81541	CCA		0.353	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		A	69749982	G	A	69749982	3	1	14	1	0	0	0	0	1	0	0	0	7062	1348	47	2	1606	2	HERC4	10	69749982	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10		69749982	65784765	39	982											
PPA1	5464	hgsc.bcm.edu	37	10	71974287	71974287	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr10:71974287T>C	ENST00000373232.3	-	5	452	c.353A>G	c.(352-354)gAc>gGc	p.D118G	PPA1_ENST00000608321.1_Missense_Mutation_p.D118G	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	118					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						ATCAATTGGGTCATTGTCACC	0.333																																																0													115	105	108					10																	71974287		2203	4300	6503	SO:0001583	missense	5464			AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"cytosolic inorganic pyrophosphatase", "inorganic pyrophosphatase 1", "pyrophosphate phospho-hydrolase"	179030	"pyrophosphatase (inorganic)"	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.353A>G	chr10.hg19:g.71974287T>C	ENSP00000362329:p.Asp118Gly		Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Missense_Mutation	SNP	ENST00000373232.3	hg19	CCDS7299.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.859975	0.91433	.	.	ENSG00000180817	ENST00000373232;ENST00000373230	T;T	0.71103	-0.54;-0.54	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	H	0.96460	3.825	0.80722	D	1	P	0.44776	0.843	P	0.61940	0.896	D	0.91533	0.5244	10	0.87932	D	0	-2.9842	14.5337	0.67944	0.0:0.0:0.0:1.0	.	118	Q15181	IPYR_HUMAN	G	118	ENSP00000362329:D118G;ENSP00000362327:D118G	ENSP00000362327:D118G	D	-	2	0	PPA1	71644293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.819000	0.86621	2.113000	0.64589	0.482000	0.46254	GAC		0.333	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2	NM_021129		C	71974287	T	C	71974287	3	2	14	1	0	0	0	0	1	0	0	0	12288	1667	58	3	544	3	PPA1	10	71974287	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	2224305	71974287	63560460	40	983											
CDH23	64072	hgsc.bcm.edu	37	10	73572275	73572275	+	Missense_Mutation	SNP	T	T	A	rs371829335		TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr10:73572275T>A	ENST00000224721.6	+	66	9439	c.9434T>A	c.(9433-9435)cTg>cAg	p.L3145Q	CDH23_ENST00000398788.3_Missense_Mutation_p.L900Q|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3140					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGTCGGAACCTGGAGCTGGCC	0.637											OREG0020259	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0								T	GLN/LEU,GLN/LEU,GLN/LEU,GLN/LEU,GLN/LEU	0,3978		0,0,1989	70	77	74		2699,2699,110,110,9419	5.5	1	10		74	1,8311		0,1,4155	no	missense,missense,missense,missense,missense	CDH23	NM_001171933.1,NM_001171934.1,NM_001171935.1,NM_001171936.1,NM_022124.5	113,113,113,113,113	0,1,6144	AA,AT,TT		0.012,0.0,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	900/1115,900/1080,37/252,37/217,3140/3355	73572275	1,12289	1989	4156	6145	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9434T>A	chr10.hg19:g.73572275T>A	ENSP00000224721:p.Leu3145Gln	1146	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	hg19		.	.	.	.	.	.	.	.	.	.	T	23.5	4.428786	0.83667	0.0	1.2E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	D	0.82893	-1.66	5.54	5.54	0.83059	.	0.093214	0.45867	D	0.000338	D	0.86916	0.6048	L	0.36672	1.1	0.54753	D	0.999982	D;D;P;P	0.71674	0.996;0.998;0.938;0.938	P;D;P;P	0.71184	0.859;0.972;0.523;0.523	D	0.88372	0.2995	10	0.87932	D	0	.	15.8465	0.78895	0.0:0.0:0.0:1.0	.	37;37;3140;3140	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	Q	3145;3140;3143;900	ENSP00000381768:L900Q	ENSP00000224721:L3145Q	L	+	2	0	CDH23	73242281	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	7.836000	0.86788	2.326000	0.78906	0.533000	0.62120	CTG		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		A	73572275	T	A	73572275	3	1	14	1	0	0	0	0	1	0	0	0	3110	1580	55	5	10101	5	CDH23	10	73572275	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	1597988	73572275	61962472	41	984											
TNKS2	80351	hgsc.bcm.edu	37	10	93588096	93588096	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr10:93588096G>A	ENST00000371627.4	+	9	1416	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	346					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R346Q(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GATGTTACTCGAATCAAAAAA	0.343																																																1	Substitution - Missense(1)	large_intestine(1)											66	66	66					10																	93588096		2203	4300	6503	SO:0001583	missense	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1037G>A	chr10.hg19:g.93588096G>A	ENSP00000360689:p.Arg346Gln		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	hg19	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857368	0.71834	.	.	ENSG00000107854	ENST00000371627	T	0.63913	-0.07	5.5	5.5	0.81552	Ankyrin repeat-containing domain (4);	0.000000	0.50627	D	0.000107	T	0.50411	0.1614	N	0.25245	0.725	0.46096	D	0.998866	B	0.25351	0.124	B	0.23150	0.044	T	0.41574	-0.9501	10	0.22109	T	0.4	.	19.4011	0.94630	0.0:0.0:1.0:0.0	.	346	Q9H2K2	TNKS2_HUMAN	Q	346	ENSP00000360689:R346Q	ENSP00000360689:R346Q	R	+	2	0	TNKS2	93578076	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.480000	0.66820	2.591000	0.87537	0.462000	0.41574	CGA		0.343	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		A	93588096	G	A	93588096	3	1	14	1	0	0	0	0	1	0	0	0	16326	1058	37	1	1071	1	TNKS2	10	93588096	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	20015821	93588096	41946651	42	985											
LCOR	84458	hgsc.bcm.edu	37	10	98715299	98715299	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr10:98715299G>C	ENST00000371097.4	+	8	1468	c.922G>C	c.(922-924)Gga>Cga	p.G308R	LCOR_ENST00000540664.1_Missense_Mutation_p.G308R|LCOR_ENST00000356016.3_Missense_Mutation_p.G308R|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.G308R			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	308					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GTTAGATGCTGGACCCGATTC	0.478																																																0													44	46	45					10																	98715299		2203	4300	6503	SO:0001583	missense	84458				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.922G>C	chr10.hg19:g.98715299G>C	ENSP00000360138:p.Gly308Arg		D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	hg19	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265945	0.40095	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.65	5.65	0.86999	.	0.275445	0.42548	D	0.000696	T	0.35480	0.0933	N	0.14661	0.345	0.37180	D	0.903461	B;B	0.29037	0.148;0.231	B;B	0.23716	0.022;0.048	T	0.39035	-0.9633	9	0.48119	T	0.1	-3.1435	13.3313	0.60488	0.0722:0.0:0.9278:0.0	.	308;308	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	R	308	.	ENSP00000348298:G308R	G	+	1	0	LCOR	98705289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.971000	0.63749	2.827000	0.97445	0.650000	0.86243	GGA		0.478	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			C	98715299	G	C	98715299	3	2	14	1	0	0	0	0	1	0	0	0	8691	1349	47	4	932	4	LCOR	10	98715299	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	5127203	98715299	36819448	43	986											
TRIM8	81603	hgsc.bcm.edu	37	10	104404444	104404444	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr10:104404444G>A	ENST00000302424.7	+	1	192	c.70G>A	c.(70-72)Gag>Aag	p.E24K	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	24					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGTTTTCGTGGAGCCAGTGCA	0.662																																																0													33	37	36					10																	104404444		2202	4299	6501	SO:0001583	missense	81603			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.70G>A	chr10.hg19:g.104404444G>A	ENSP00000302120:p.Glu24Lys		A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	hg19	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941410	0.92526	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.19105	2.17	4.06	4.06	0.47325	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.057637	0.64402	D	0.000002	T	0.32436	0.0829	L	0.35644	1.08	0.58432	D	0.999999	D	0.56968	0.978	P	0.57911	0.829	T	0.13602	-1.0503	10	0.72032	D	0.01	.	16.81	0.85717	0.0:0.0:1.0:0.0	.	24	Q9BZR9	TRIM8_HUMAN	K	24	ENSP00000302120:E24K	ENSP00000302120:E24K	E	+	1	0	TRIM8	104394434	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.463000	0.80869	2.277000	0.76020	0.561000	0.74099	GAG		0.662	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		A	104404444	G	A	104404444	3	1	14	1	0	0	0	0	1	0	0	0	16553	1175	41	2	72	2	TRIM8	10	104404444	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	5689145	104404444	31130303	44	987											
OR51E2	81285	hgsc.bcm.edu	37	11	4703309	4703309	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr11:4703309C>T	ENST00000396950.3	-	2	872	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	211					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGAGATGAACATTACGTCCA	0.488																																																0													100	89	93					11																	4703309		2201	4298	6499	SO:0001583	missense	81285			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.633G>A	chr11.hg19:g.4703309C>T	ENSP00000380153:p.Met211Ile		B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	hg19	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	3.080	-0.189220	0.06299	.	.	ENSG00000167332	ENST00000396950	T	0.32988	1.43	5.07	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.278770	0.25645	N	0.029258	T	0.08179	0.0204	N	0.02225	-0.63	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.29274	-1.0017	10	0.07030	T	0.85	.	2.2245	0.03980	0.1478:0.4044:0.2869:0.1609	.	211	Q9H255	O51E2_HUMAN	I	211	ENSP00000380153:M211I	ENSP00000380153:M211I	M	-	3	0	OR51E2	4659885	0.000000	0.05858	0.538000	0.28064	0.770000	0.43624	-1.295000	0.02764	0.273000	0.22049	0.655000	0.94253	ATG		0.488	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		T	4703309	C	T	4703309	3	4	14	1	0	0	0	0	1	0	0	0	11097	478	17	2	333	2	OR51E2	11	4703309	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10		4703309	130303207	45	988											
TUT1	64852	hgsc.bcm.edu	37	11	62346467	62346467	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr11:62346467G>T	ENST00000476907.1	-	5	1417	c.726C>A	c.(724-726)gaC>gaA	p.D242E	TUT1_ENST00000308436.7_Missense_Mutation_p.D280E|MIR3654_ENST00000496634.2_Missense_Mutation_p.D242E			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	242	Pro-rich.				mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCAGGGCCGAGTCCAGCGATG	0.562																																																0													32	38	36					11																	62346467		2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.726C>A	chr11.hg19:g.62346467G>T	ENSP00000419607:p.Asp242Glu		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.86	3.712700	0.68730	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000278279	T;T	0.40225	1.04;1.08	5.44	1.53	0.23141	.	0.150712	0.44097	D	0.000493	T	0.48169	0.1485	L	0.44542	1.39	0.21064	N	0.999795	D	0.76494	0.999	D	0.80764	0.994	T	0.27157	-1.0082	10	0.33940	T	0.23	-19.8764	6.6964	0.23201	0.3737:0.0:0.6263:0.0	.	280	F5H0R1	.	E	280;242;103	ENSP00000308000:D280E;ENSP00000419607:D242E	ENSP00000441670:D242E	D	-	3	2	TUT1	62103043	1.000000	0.71417	0.999000	0.59377	0.766000	0.43426	0.664000	0.25068	0.289000	0.22422	0.563000	0.77884	GAC		0.562	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		T	62346467	G	T	62346467	3	4	14	1	0	0	0	0	1	0	0	0	16785	1020	36	4	1918	4	TUT1	11	62346467	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	57643158	62346467	72660049	46	989											
CTSF	8722	hgsc.bcm.edu	37	11	66332038	66332038	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr11:66332038A>G	ENST00000310325.5	-	11	1421	c.1312T>C	c.(1312-1314)Tac>Cac	p.Y438H	ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	438					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CGGTTGCCGTAGCCCACAAGC	0.622																																																0													21	21	21					11																	66332038		2180	4276	6456	SO:0001583	missense	8722			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1312T>C	chr11.hg19:g.66332038A>G	ENSP00000310832:p.Tyr438His		B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	hg19	CCDS8144.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472758	0.84640	.	.	ENSG00000174080	ENST00000310325	T	0.37411	1.2	4.97	4.97	0.65823	Peptidase C1A, papain C-terminal (3);	0.131244	0.53938	D	0.000058	T	0.76709	0.4025	H	0.99726	4.73	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.86364	0.1719	10	0.87932	D	0	.	12.6418	0.56714	1.0:0.0:0.0:0.0	.	438	Q9UBX1	CATF_HUMAN	H	438	ENSP00000310832:Y438H	ENSP00000310832:Y438H	Y	-	1	0	CTSF	66088614	1.000000	0.71417	0.974000	0.42286	0.886000	0.51366	7.567000	0.82357	1.880000	0.54463	0.459000	0.35465	TAC		0.622	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		G	66332038	A	G	66332038	3	3	14	1	0	0	0	0	1	0	0	0	4036	420	15	3	154	3	CTSF	11	66332038	Missense_Mutation	SNP	A	TCGA-2Z-A9JK-01A-11D-A42J-10	3985571	66332038	68674478	47	990											
ATM	472	hgsc.bcm.edu	37	11	108178695	108178695	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr11:108178695A>G	ENST00000452508.2	+	39	5935	c.5746A>G	c.(5746-5748)Atg>Gtg	p.M1916V	ATM_ENST00000278616.4_Missense_Mutation_p.M1916V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1916			M -> I (in a breast pleomorphic lobular carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTGGACTACATGAGAAGACA	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													157	143	148					11																	108178695		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5746A>G	chr11.hg19:g.108178695A>G	ENSP00000388058:p.Met1916Val		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.275921	0.40294	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.74209	-0.82;-0.82	6.03	2.2	0.27929	Armadillo-type fold (1);	0.154649	0.64402	N	0.000014	T	0.61350	0.2340	L	0.44542	1.39	0.23492	N	0.997568	B	0.16166	0.016	B	0.08055	0.003	T	0.53954	-0.8365	10	0.54805	T	0.06	.	5.5933	0.17313	0.4052:0.2709:0.0:0.3239	.	1916	Q13315	ATM_HUMAN	V	1916	ENSP00000278616:M1916V;ENSP00000388058:M1916V	ENSP00000278616:M1916V	M	+	1	0	ATM	107683905	0.535000	0.26370	0.999000	0.59377	0.996000	0.88848	-0.063000	0.11655	0.490000	0.27771	0.533000	0.62120	ATG		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		G	108178695	A	G	108178695	3	3	14	1	0	0	0	0	1	0	0	0	1109	217	8	3	5892	3	ATM	11	108178695	Missense_Mutation	SNP	A	TCGA-2Z-A9JK-01A-11D-A42J-10	41846657	108178695	26827821	48	991											
ALG9	79796	hgsc.bcm.edu	37	11	111707006	111707006	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr11:111707006T>A	ENST00000531154.1	-	13	1443	c.971A>T	c.(970-972)cAg>cTg	p.Q324L	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.Q317L|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	488					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TGGAATGAACTGAAGCTGCCA	0.418																																																0													71	67	68					11																	111707006		1858	4094	5952	SO:0001583	missense	79796				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.971A>T	chr11.hg19:g.111707006T>A	ENSP00000435517:p.Gln324Leu		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	hg19	CCDS41714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.88|19.88	3.908962|3.908962	0.72868|0.72868	.|.	.|.	ENSG00000086848|ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306|ENST00000532425	T;T|.	0.73575|.	-0.76;-0.76|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.049825|.	0.85682|.	D|.	0.000000|.	T|T	0.71221|0.71221	0.3314|0.3314	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;B;B|.	0.21225|.	0.031;0.053;0.027|.	B;B;B|.	0.20384|.	0.01;0.029;0.017|.	T|T	0.70710|0.70710	-0.4797|-0.4797	10|5	0.54805|.	T|.	0.06|.	-14.0058|-14.0058	15.3545|15.3545	0.74418|0.74418	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	317;495;488|.	B4DQI3;Q9H6U8-3;Q9H6U8|.	.;.;ALG9_HUMAN|.	L|C	324;317;721|73	ENSP00000435517:Q324L;ENSP00000381090:Q317L|.	ENSP00000381090:Q317L|.	Q|S	-|-	2|1	0|0	ALG9|ALG9	111212216|111212216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.974000|7.974000	0.88039|0.88039	2.090000|2.090000	0.63153|0.63153	0.460000|0.460000	0.39030|0.39030	CAG|AGT		0.418	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		A	111707006	T	A	111707006	3	1	14	1	0	0	0	0	1	0	0	0	524	1580	55	5	384	5	ALG9	11	111707006	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	3528311	111707006	23299510	49	992											
CACNA1C	775	hgsc.bcm.edu	37	12	2602503	2602503	+	Missense_Mutation	SNP	C	C	T	rs538694667		TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr12:2602503C>T	ENST00000347598.4	+	7	1064	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	CACNA1C_ENST00000344100.3_Missense_Mutation_p.T355M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T355M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T355M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T355M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T355M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T355M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T355M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	355					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCATGCTCACGGTGTTCCAG	0.622																																																0													202	194	197					12																	2602503		2203	4300	6503	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1064C>T	chr12.hg19:g.2602503C>T	ENSP00000266376:p.Thr355Met		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590362	0.86851	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39	4.91	4.91	0.64330	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;1.0;0.999;0.999;0.997;0.999;1.0;1.0;0.999;0.997;1.0;0.999;0.999;1.0;0.997;1.0;0.999;1.0;0.997;0.999;0.999;0.997;0.997	D	0.99628	1.0985	10	0.87932	D	0	.	18.2978	0.90153	0.0:1.0:0.0:0.0	.	355;352;355;355;355;355;355;355;355;355;355;326;355;355;355;355;355;355;355;355;355;355;355;355	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	355;355;355;355;355;355;355;355;355;355;355;355;355;355;355;355;355;355;355;355;355;355;355;196	ENSP00000336982:T355M;ENSP00000382563:T355M;ENSP00000437936:T355M;ENSP00000382552:T355M;ENSP00000382547:T355M;ENSP00000382506:T355M;ENSP00000382530:T355M;ENSP00000382546:T355M;ENSP00000382500:T355M;ENSP00000382549:T355M;ENSP00000266376:T355M;ENSP00000382515:T355M;ENSP00000382510:T355M;ENSP00000341092:T355M;ENSP00000382537:T355M;ENSP00000329877:T355M;ENSP00000382557:T355M;ENSP00000385724:T355M;ENSP00000382512:T355M;ENSP00000382542:T355M;ENSP00000382526:T355M;ENSP00000385896:T355M;ENSP00000382504:T355M	ENSP00000323129:T196M	T	+	2	0	CACNA1C	2472764	1.000000	0.71417	0.618000	0.29105	0.925000	0.55904	7.609000	0.82925	2.560000	0.86352	0.462000	0.41574	ACG		0.622	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2602503	C	T	2602503	3	4	14	1	0	0	0	0	1	0	0	0	2542	536	19	1	1090	1	CACNA1C	12	2602503	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10		2602503	131249392	50	993											
TAS2R31	259290	hgsc.bcm.edu	37	12	11183487	11183487	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr12:11183487T>C	ENST00000390675.2	-	1	519	c.448A>G	c.(448-450)Aaa>Gaa	p.K150E	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	150					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						ACAATCTCTTTCATGTTTATC	0.388																																																0													80	81	81					12																	11183487		2099	4256	6355	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.448A>G	chr12.hg19:g.11183487T>C	ENSP00000375093:p.Lys150Glu		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	hg19	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	5.887	0.347768	0.11126	.	.	ENSG00000256436	ENST00000390675	T	0.00705	5.81	2.45	-4.89	0.03103	.	.	.	.	.	T	0.00440	0.0014	N	0.11756	0.17	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.45026	-0.9289	9	0.26408	T	0.33	.	0.8461	0.01161	0.1672:0.3487:0.1681:0.316	.	150	P59538	T2R31_HUMAN	E	150	ENSP00000375093:K150E	ENSP00000375093:K150E	K	-	1	0	TAS2R31	11074754	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-3.555000	0.00432	-1.724000	0.01373	0.163000	0.16589	AAA		0.388	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		C	11183487	T	C	11183487	3	2	14	1	0	0	0	0	1	0	0	0	15579	1792	62	3	485	3	TAS2R31	12	11183487	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	8580984	11183487	122668408	51	994											
LRRK2	120892	hgsc.bcm.edu	37	12	40757356	40757356	+	Splice_Site	SNP	G	G	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr12:40757356G>T	ENST00000298910.7	+	48	7239	c.7181G>T	c.(7180-7182)aGg>aTg	p.R2394M		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2394					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CACTTTTTAAGGTAAATTCTG	0.368																																																0													87	90	89					12																	40757356		2203	4300	6503	SO:0001630	splice_region_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7181+1G>T	chr12.hg19:g.40757356G>T			A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706286	0.30232	.	.	ENSG00000188906	ENST00000298910	T	0.73047	-0.71	5.28	4.14	0.48551	WD40 repeat-like-containing domain (1);	0.140743	0.64402	D	0.000006	T	0.54062	0.1835	N	0.14661	0.345	0.80722	D	1	P;P	0.45348	0.856;0.856	B;B	0.41946	0.371;0.371	T	0.58482	-0.7629	10	0.87932	D	0	.	10.141	0.42736	0.9181:0.0:0.0819:0.0	.	2394;2394	Q17RV3;Q5S007	.;LRRK2_HUMAN	M	2394	ENSP00000298910:R2394M	ENSP00000298910:R2394M	R	+	2	0	LRRK2	39043623	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	4.153000	0.58118	0.853000	0.35312	-0.373000	0.07131	AGG		0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Missense_Mutation	T	40757356	G	T	40757356	5	4	14	1	0	0	0	0	0	0	1	0	9035	1014	35	4	7371	4	LRRK2	12	40757356	Splice_Site	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	29573869	40757356	93094539	52	995											
ADCY6	112	hgsc.bcm.edu	37	12	49171000	49171000	+	Silent	SNP	C	C	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr12:49171000C>T	ENST00000307885.4	-	5	1957	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	ADCY6_ENST00000550422.1_Silent_p.L421L|ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000357869.3_Silent_p.L421L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	421					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCTTGATCCTCAGGCAGTGAT	0.582																																																0													102	103	103					12																	49171000		2203	4300	6503	SO:0001819	synonymous_variant	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1263G>A	chr12.hg19:g.49171000C>T			Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	hg19	CCDS8767.1																																																																																				0.582	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		T	49171000	C	T	49171000	2	4	14	1	0	0	0	0	0	0	0	1	298	813	29	2		2	ADCY6	12	49171000	Silent	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	8413644	49171000	84680895	53	996											
XPOT	11260	hgsc.bcm.edu	37	12	64825465	64825465	+	Silent	SNP	T	T	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr12:64825465T>A	ENST00000332707.5	+	18	2653	c.2124T>A	c.(2122-2124)ctT>ctA	p.L708L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	708	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTACTTTCCTTCATCGAATGA	0.428																																																0													96	85	88					12																	64825465		2203	4300	6503	SO:0001819	synonymous_variant	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2124T>A	chr12.hg19:g.64825465T>A			A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	hg19	CCDS31852.1																																																																																				0.428	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		A	64825465	T	A	64825465	2	1	14	1	0	0	0	0	0	0	0	1	17455	1770	62	5		5	XPOT	12	64825465	Silent	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	15654465	64825465	69026430	54	997											
CPSF6	11052	hgsc.bcm.edu	37	12	69656194	69656194	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr12:69656194delA	ENST00000435070.2	+	9	1621	c.1511delA	c.(1510-1512)gaafs	p.E504fs	CPSF6_ENST00000456847.3_Frame_Shift_Del_p.E431fs|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Frame_Shift_Del_p.E541fs	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	504	Arg-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGATCACGAGAAAAGAGTCGA	0.428																																																0													139	121	127					12																	69656194		2203	4300	6503	SO:0001589	frameshift_variant	11052			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1511delA	chr12.hg19:g.69656194delA	ENSP00000391774:p.Glu504fs		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Frame_Shift_Del	DEL	ENST00000435070.2	hg19	CCDS8988.1																																																																																				0.428	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		-	69656194	A	-	69656194	7	5	14	1	0	1	0	1	0	0	0	0	3831	246	9	0	1545	0	CPSF6	12	69656194	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JK-01A-11D-A42J-10	4830729	69656194	64195701	55	998											
TPH2	121278	hgsc.bcm.edu	37	12	72335374	72335374	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr12:72335374C>G	ENST00000333850.3	+	2	257	c.116C>G	c.(115-117)cCt>cGt	p.P39R	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	39					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTAAATAAACCTAACTCTGGC	0.388																																																0													67	62	64					12																	72335374		2203	4300	6503	SO:0001583	missense	121278			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.116C>G	chr12.hg19:g.72335374C>G	ENSP00000329093:p.Pro39Arg		A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	hg19	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480817	0.44044	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.99422	-5.88	5.91	5.01	0.66863	.	0.525534	0.21326	N	0.076363	D	0.96626	0.8899	N	0.08118	0	0.24376	N	0.994812	B	0.02656	0.0	B	0.01281	0.0	D	0.92945	0.6375	10	0.44086	T	0.13	-2.874	10.3721	0.44060	0.0:0.7946:0.1359:0.0695	.	39	Q8IWU9	TPH2_HUMAN	R	39	ENSP00000329093:P39R	ENSP00000266669:P39R	P	+	2	0	TPH2	70621641	0.321000	0.24625	1.000000	0.80357	0.956000	0.61745	1.432000	0.34936	1.475000	0.48197	0.650000	0.86243	CCT		0.388	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		G	72335374	C	G	72335374	3	3	14	1	0	0	0	0	1	0	0	0	16407	681	24	4	122	4	TPH2	12	72335374	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	2679180	72335374	61516521	56	999											
IPO4	79711	hgsc.bcm.edu	37	14	24651547	24651547	+	Silent	SNP	C	C	A	rs374946858		TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr14:24651547C>A	ENST00000354464.6	-	25	2711	c.2535G>T	c.(2533-2535)gcG>gcT	p.A845A	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	845					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTCCCCCAGCCGCGGCTGCCA	0.617																																																0													24	30	28					14																	24651547		2100	4212	6312	SO:0001819	synonymous_variant	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2535G>T	chr14.hg19:g.24651547C>A			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	hg19	CCDS9616.1																																																																																				0.617	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		A	24651547	C	A	24651547	2	1	14	1	0	0	0	0	0	0	0	1	7797	639	23	4		4	IPO4	14	24651547	Silent	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10		24651547	82697993	57	1000											
KIAA0831	22863	hgsc.bcm.edu	37	14	55836392	55836395	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	GAGA	GAGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr14:55836392_55836395delGAGA	ENST00000247178.5	-	10	1456_1459	c.1421_1424delTCTC	c.(1420-1425)atctccfs	p.IS474fs		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	474	BATS. {ECO:0000250}.				autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TGCTGCAGAGGAGATCATCCCACC	0.539																																																0																																										SO:0001589	frameshift_variant	22863			AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1421_1424delTCTC	chr14.hg19:g.55836392_55836395delGAGA	ENSP00000247178:p.Ile474fs		A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Frame_Shift_Del	DEL	ENST00000247178.5	hg19	CCDS32087.1																																																																																				0.539	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		-	55836395	GAGA	-	55836392	7	5	14	1	0	1	0	1	0	0	0	0	8197	1174	41	0	58	0	KIAA0831	14	55836392	Frame_Shift_Del	DEL	GAGA	TCGA-2Z-A9JK-01A-11D-A42J-10	31184845	55836392	51513148	58	1001											
C15orf39	56905	hgsc.bcm.edu	37	15	75499492	75499494	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	CAT	CAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr15:75499492_75499494delCAT	ENST00000360639.2	+	2	1423_1425	c.1103_1105delCAT	c.(1102-1107)ccattg>ctg	p.P368del	C15orf39_ENST00000394987.4_In_Frame_Del_p.P368del|C15orf39_ENST00000567617.1_In_Frame_Del_p.P368del			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	368						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCACGGTGCCCATTGGACTTTGC	0.621																																																0																																										SO:0001651	inframe_deletion	56905			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1103_1105delCAT	chr15.hg19:g.75499492_75499494delCAT	ENSP00000353854:p.Pro368del		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	In_Frame_Del	DEL	ENST00000360639.2	hg19	CCDS10276.1																																																																																				0.621	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		-	75499494	CAT	-	75499492	7	5	14	1	0	1	0	1	0	0	0	0	1795	594	21	0	1105	0	C15orf39	15	75499492	In_Frame_Del	DEL	CAT	TCGA-2Z-A9JK-01A-11D-A42J-10		75499492	27031900	59	1002											
CREBBP	1387	hgsc.bcm.edu	37	16	3778974	3778974	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr16:3778974G>T	ENST00000262367.5	-	31	6883	c.6074C>A	c.(6073-6075)cCc>cAc	p.P2025H	CREBBP_ENST00000382070.3_Missense_Mutation_p.P1987H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2025					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGGGGAAGGGGCGCCTGCTG	0.716			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													8	10	10					16																	3778974		2177	4282	6459	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6074C>A	chr16.hg19:g.3778974G>T	ENSP00000262367:p.Pro2025His		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	9.873	1.199349	0.22121	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.84589	-1.87;-1.74	5.11	5.11	0.69529	Nuclear receptor coactivator, CREB-bp-like, interlocking (1);	0.174784	0.40908	D	0.000996	T	0.79958	0.4536	L	0.36672	1.1	0.40858	D	0.983818	P;P	0.42123	0.771;0.771	B;B	0.43623	0.425;0.425	T	0.76908	-0.2785	10	0.16420	T	0.52	-5.7528	13.5145	0.61533	0.0:0.0:0.844:0.156	.	2055;2025	Q4LE28;Q92793	.;CBP_HUMAN	H	2025;2055;1987;560	ENSP00000262367:P2025H;ENSP00000371502:P1987H	ENSP00000262367:P2025H	P	-	2	0	CREBBP	3718975	0.990000	0.36364	0.985000	0.45067	0.936000	0.57629	2.389000	0.44407	2.387000	0.81309	0.655000	0.94253	CCC		0.716	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		T	3778974	G	T	3778974	3	4	14	1	0	0	0	0	1	0	0	0	3863	1232	43	4	1258	4	CREBBP	16	3778974	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10		3778974	86575779	60	1003											
MARVELD3	91862	hgsc.bcm.edu	37	16	71668183	71668183	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr16:71668183G>C	ENST00000268485.3	+	3	727	c.683G>C	c.(682-684)gGc>gCc	p.G228A	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_Silent_p.G41G|MARVELD3_ENST00000299952.4_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	228	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGCTACACGGGCATCACCAGC	0.557																																																0													95	98	97					16																	71668183		2198	4300	6498	SO:0001583	missense	91862			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.683G>C	chr16.hg19:g.71668183G>C	ENSP00000268485:p.Gly228Ala		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	hg19	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014124	0.35511	.	.	ENSG00000140832	ENST00000268485	T	0.40756	1.02	5.91	5.91	0.95273	Marvel (1);	.	.	.	.	T	0.57169	0.2035	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.41179	-0.9523	9	0.12766	T	0.61	.	19.2867	0.94077	0.0:0.0:1.0:0.0	.	228	Q96A59	MALD3_HUMAN	A	228	ENSP00000268485:G228A	ENSP00000268485:G228A	G	+	2	0	MARVELD3	70225684	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.076000	0.71267	2.793000	0.96121	0.655000	0.94253	GGC		0.557	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		C	71668183	G	C	71668183	3	2	14	1	0	0	0	0	1	0	0	0	9321	1203	42	4	693	4	MARVELD3	16	71668183	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	67889209	71668183	18686570	61	1004											
ANKRD11	29123	hgsc.bcm.edu	37	16	89341269	89341269	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr16:89341269T>C	ENST00000301030.4	-	11	8126	c.7666A>G	c.(7666-7668)Acg>Gcg	p.T2556A	ANKRD11_ENST00000378330.2_Missense_Mutation_p.T2556A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2556					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCAGCATCGTGCAGGCGCTG	0.632																																																0													63	60	61					16																	89341269		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7666A>G	chr16.hg19:g.89341269T>C	ENSP00000301030:p.Thr2556Ala		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	hg19	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.716462	0.68844	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.45668	0.89;0.89	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	T	0.66781	0.2824	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71163	-0.4673	10	0.52906	T	0.07	.	14.9521	0.71083	0.0:0.0:0.0:1.0	.	2556	Q6UB99	ANR11_HUMAN	A	2556	ENSP00000301030:T2556A;ENSP00000367581:T2556A	ENSP00000301030:T2556A	T	-	1	0	ANKRD11	87868770	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	7.859000	0.86982	2.077000	0.62373	0.533000	0.62120	ACG		0.632	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		C	89341269	T	C	89341269	3	2	14	1	0	0	0	0	1	0	0	0	639	1696	59	3	337	3	ANKRD11	16	89341269	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	17673086	89341269	1013484	62	1005											
SMYD4	114826	hgsc.bcm.edu	37	17	1687738	1687738	+	Silent	SNP	G	G	C			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr17:1687738G>C	ENST00000305513.7	-	8	2069	c.1902C>G	c.(1900-1902)cgC>cgG	p.R634R		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	634							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TGCTGCCACAGCGCAGCACGT	0.542											OREG0024075	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													133	123	126					17																	1687738		2203	4300	6503	SO:0001819	synonymous_variant	114826			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1902C>G	chr17.hg19:g.1687738G>C		597	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	hg19	CCDS11013.1																																																																																				0.542	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		C	1687738	G	C	1687738	2	2	14	1	0	0	0	0	0	0	0	1	14830	958	34	4		4	SMYD4	17	1687738	Silent	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10		1687738	79507472	63	1006											
PAFAH1B1	5048	hgsc.bcm.edu	37	17	2577395	2577395	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr17:2577395G>A	ENST00000397195.5	+	8	1164	c.713G>A	c.(712-714)cGt>cAt	p.R238H	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.R67H|PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GAATGGGTACGTATGGTACGG	0.448																																																0													130	102	112					17																	2577395		2203	4300	6503	SO:0001583	missense	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.713G>A	chr17.hg19:g.2577395G>A	ENSP00000380378:p.Arg238His			Missense_Mutation	SNP	ENST00000397195.5	hg19	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372309	0.95923	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.62105	0.05;0.05	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	L	0.52011	1.625	0.80722	D	1	P;D	0.59767	0.9;0.986	P;P	0.53035	0.554;0.716	T	0.60969	-0.7157	10	0.18276	T	0.48	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	67;238	B4DF38;P43034	.;LIS1_HUMAN	H	238;67;67	ENSP00000380378:R238H;ENSP00000395628:R67H	ENSP00000380377:R67H	R	+	2	0	PAFAH1B1	2524145	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.703000	0.92315	0.655000	0.94253	CGT		0.448	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		A	2577395	G	A	2577395	3	1	14	1	0	0	0	0	1	0	0	0	11386	1145	40	1	739	1	PAFAH1B1	17	2577395	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	889657	2577395	78617815	64	1007											
GLP2R	9340	hgsc.bcm.edu	37	17	9792980	9792980	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr17:9792980G>A	ENST00000262441.5	+	13	2133	c.1620G>A	c.(1618-1620)atG>atA	p.M540I	GLP2R_ENST00000574745.1_Missense_Mutation_p.M360I	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	540					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ATGTCACCATGGCCAACACCA	0.642																																																0													32	27	29					17																	9792980		2203	4300	6503	SO:0001583	missense	9340			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1620G>A	chr17.hg19:g.9792980G>A	ENSP00000262441:p.Met540Ile		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	hg19	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023235	0.35701	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.53423	0.62	5.97	2.5	0.30297	.	0.263906	0.20265	N	0.095796	T	0.24624	0.0597	N	0.08118	0	0.21652	N	0.9996	B	0.02656	0.0	B	0.01281	0.0	T	0.14227	-1.0480	10	0.40728	T	0.16	.	8.2404	0.31656	0.0:0.3617:0.3907:0.2476	.	540	O95838	GLP2R_HUMAN	I	540	ENSP00000262441:M540I	ENSP00000262441:M540I	M	+	3	0	GLP2R	9733705	0.146000	0.22672	1.000000	0.80357	0.985000	0.73830	0.185000	0.16958	1.468000	0.48064	0.655000	0.94253	ATG		0.642	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			A	9792980	G	A	9792980	3	1	14	1	0	0	0	0	1	0	0	0	6455	1348	47	2	1670	2	GLP2R	17	9792980	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	7215585	9792980	71402230	65	1008											
MYO18A	399687	hgsc.bcm.edu	37	17	27437065	27437065	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr17:27437065G>C	ENST00000527372.1	-	19	3322	c.3142C>G	c.(3142-3144)Ctg>Gtg	p.L1048V	MYO18A_ENST00000531253.1_Missense_Mutation_p.L1048V|MYO18A_ENST00000354329.4_Missense_Mutation_p.L1048V|MYO18A_ENST00000533112.1_Missense_Mutation_p.L1048V	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1048	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTACAGGCAGGAAGCAGTGC	0.637																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											0													39	49	46					17																	27437065		2178	4283	6461	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3142C>G	chr17.hg19:g.27437065G>C	ENSP00000437073:p.Leu1048Val		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	hg19	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555798	0.45487	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.06	4.09	0.47781	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.89058	0.6607	L	0.35793	1.09	0.36621	D	0.875739	P;D;D;D;D	0.71674	0.537;0.998;0.998;0.998;0.998	B;D;D;D;D	0.83275	0.219;0.996;0.996;0.996;0.983	D	0.88752	0.3251	10	0.27082	T	0.32	.	13.476	0.61308	0.0772:0.0:0.9228:0.0	.	717;660;1048;1048;1048	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	V	1048;1048;1048;1048;1048;660	ENSP00000346291:L1048V;ENSP00000435932:L1048V;ENSP00000434228:L1048V;ENSP00000437073:L1048V	ENSP00000346291:L1048V	L	-	1	2	MYO18A	24461191	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.662000	0.54510	1.268000	0.44264	0.561000	0.74099	CTG		0.637	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		C	27437065	G	C	27437065	3	2	14	1	0	0	0	0	1	0	0	0	10067	991	35	4	3118	4	MYO18A	17	27437065	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	17644085	27437065	53758145	66	1009											
EME1	146956	hgsc.bcm.edu	37	17	48452912	48452918	+	Frame_Shift_Del	DEL	TCTAGCT	TCTAGCT	-			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	TCTAGCT	TCTAGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr17:48452912_48452918delTCTAGCT	ENST00000338165.4	+	2	425_431	c.343_349delTCTAGCT	c.(343-351)tctagctccfs	p.SSS115fs	EME1_ENST00000511648.2_Frame_Shift_Del_p.SSS115fs|MRPL27_ENST00000507088.1_5'Flank|MRPL27_ENST00000503633.1_5'Flank|MRPL27_ENST00000225969.4_5'Flank|EME1_ENST00000393271.2_Frame_Shift_Del_p.SSS115fs|MRPL27_ENST00000442592.3_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	115					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CCCTGAGGACTCTAGCTCCCCAGTTAA	0.43								Direct reversal of damage;Homologous recombination																																								0																																										SO:0001589	frameshift_variant	146956			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"	610885	"essential meiotic endonuclease 1 homolog 1 (S. pombe)"			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.343_349delTCTAGCT	chr17.hg19:g.48452912_48452918delTCTAGCT	ENSP00000339897:p.Ser115fs		Q96N62	Frame_Shift_Del	DEL	ENST00000338165.4	hg19	CCDS11565.1																																																																																				0.43	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		-	48452918	TCTAGCT	-	48452912	7	5	14	1	0	1	0	1	0	0	0	0	5090	1551	54	0	345	0	EME1	17	48452912	Frame_Shift_Del	DEL	TCTAGCT	TCGA-2Z-A9JK-01A-11D-A42J-10	21015847	48452912	32742298	67	1010											
RNF213	57674	hgsc.bcm.edu	37	17	78321044	78321044	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr17:78321044C>T	ENST00000582970.1	+	29	9052	c.8909C>T	c.(8908-8910)tCa>tTa	p.S2970L	RNF213_ENST00000336301.6_Missense_Mutation_p.S1043L|RNF213_ENST00000508628.2_Missense_Mutation_p.S3019L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2970					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAAAGGCTTCAAATAGAAAG	0.483																																																0													36	32	34					17																	78321044		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8909C>T	chr17.hg19:g.78321044C>T	ENSP00000464087:p.Ser2970Leu		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	hg19	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	5.507	0.278473	0.10403	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.31510	1.49	5.82	5.82	0.92795	.	0.215070	0.40144	N	0.001174	T	0.39253	0.1071	M	0.72576	2.205	0.18873	N	0.999983	B	0.25441	0.126	B	0.21546	0.035	T	0.32079	-0.9920	10	0.59425	D	0.04	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	1043	Q63HN8	RN213_HUMAN	L	2970;3019;1043	ENSP00000338218:S1043L	ENSP00000338218:S1043L	S	+	2	0	RNF213	75935639	0.971000	0.33674	0.008000	0.14137	0.003000	0.03518	4.793000	0.62474	2.751000	0.94390	0.563000	0.77884	TCA		0.483	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		T	78321044	C	T	78321044	3	4	14	1	0	0	0	0	1	0	0	0	13483	838	29	2	9338	2	RNF213	17	78321044	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	29868132	78321044	2874166	68	1011											
ZCCHC2	54877	hgsc.bcm.edu	37	18	60241523	60241523	+	Missense_Mutation	SNP	G	G	A	rs377112503		TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr18:60241523G>A	ENST00000269499.5	+	13	2627	c.2209G>A	c.(2209-2211)Gtt>Att	p.V737I	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.V416I	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	737						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGAAGTTGTCGTTCCTGCACC	0.448																																																0								G	ILE/VAL	1,3945		0,1,1972	103	101	102		2209	0.9	0	18		102	0,8358		0,0,4179	no	missense	ZCCHC2	NM_017742.4	29	0,1,6151	AA,AG,GG		0.0,0.0253,0.0081	benign	737/1179	60241523	1,12303	1973	4179	6152	SO:0001583	missense	54877			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2209G>A	chr18.hg19:g.60241523G>A	ENSP00000269499:p.Val737Ile		B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	hg19	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	G	6.618	0.482373	0.12581	2.53E-4	0.0	ENSG00000141664	ENST00000269499	T	0.24723	1.84	5.58	0.954	0.19595	.	0.920531	0.09269	N	0.825430	T	0.11324	0.0276	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.37686	-0.9695	10	0.07030	T	0.85	-3.16	6.2352	0.20758	0.1872:0.1457:0.6671:0.0	.	737	Q9C0B9	ZCHC2_HUMAN	I	737	ENSP00000269499:V737I	ENSP00000269499:V737I	V	+	1	0	ZCCHC2	58392503	0.009000	0.17119	0.002000	0.10522	0.823000	0.46562	0.222000	0.17699	-0.134000	0.11516	0.655000	0.94253	GTT		0.448	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		A	60241523	G	A	60241523	3	1	14	1	0	0	0	0	1	0	0	0	17592	1145	40	1	2259	1	ZCCHC2	18	60241523	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10		60241523	17835725	69	1012											
CD226	10666	hgsc.bcm.edu	37	18	67614032	67614032	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr18:67614032G>A	ENST00000280200.4	-	3	588	c.320C>T	c.(319-321)tCc>tTc	p.S107F	CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.S107F	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	107	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AAGAGAGCAGGAATAGTAGCC	0.403																																					NSCLC(184;838 2130 8673 21498 50749)											0													112	104	107					18																	67614032		2203	4300	6503	SO:0001583	missense	10666			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.320C>T	chr18.hg19:g.67614032G>A	ENSP00000280200:p.Ser107Phe		B2R818	Missense_Mutation	SNP	ENST00000280200.4	hg19	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	G	1.423	-0.572473	0.03882	.	.	ENSG00000150637	ENST00000280200	T	0.63913	-0.07	5.51	1.31	0.21738	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.347798	0.34314	N	0.004071	T	0.50446	0.1616	M	0.72479	2.2	0.30526	N	0.767936	P	0.35077	0.483	B	0.28553	0.091	T	0.50659	-0.8802	10	0.09843	T	0.71	.	9.698	0.40169	0.0:0.4401:0.4089:0.151	.	107	Q15762	CD226_HUMAN	F	107	ENSP00000280200:S107F	ENSP00000280200:S107F	S	-	2	0	CD226	65765012	0.975000	0.34042	0.882000	0.34594	0.201000	0.24016	0.136000	0.15974	0.340000	0.23745	-0.176000	0.13171	TCC		0.403	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		A	67614032	G	A	67614032	3	1	14	1	0	0	0	0	1	0	0	0	2988	1174	41	2	710	2	CD226	18	67614032	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	7372509	67614032	10463216	70	1013											
SALL3	27164	hgsc.bcm.edu	37	18	76753052	76753052	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr18:76753052C>T	ENST00000537592.2	+	2	1061	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	SALL3_ENST00000575389.2_Missense_Mutation_p.A354V|SALL3_ENST00000536229.3_Missense_Mutation_p.A221V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	354					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTGCTGGGTGCGGCGCCCGGC	0.751																																																0													8	10	9					18																	76753052		2140	4216	6356	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1061C>T	chr18.hg19:g.76753052C>T	ENSP00000441823:p.Ala354Val		Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	hg19	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712415	0.48517	.	.	ENSG00000256463	ENST00000537592;ENST00000536229	T	0.09163	3.01	4.37	4.37	0.52481	.	0.274240	0.25671	N	0.029076	T	0.04227	0.0117	N	0.02916	-0.46	0.28697	N	0.904262	P	0.37158	0.585	B	0.25140	0.058	T	0.29274	-1.0017	10	0.20519	T	0.43	-6.7884	17.1219	0.86704	0.0:1.0:0.0:0.0	.	354	Q9BXA9	SALL3_HUMAN	V	354	ENSP00000441823:A354V	ENSP00000299466:A354V	A	+	2	0	SALL3	74854040	0.982000	0.34865	0.003000	0.11579	0.005000	0.04900	5.445000	0.66594	2.269000	0.75478	0.460000	0.39030	GCG		0.751	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		T	76753052	C	T	76753052	3	4	14	1	0	0	0	0	1	0	0	0	13818	768	27	1	1067	1	SALL3	18	76753052	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	9139020	76753052	1324196	71	1014											
ZNF823	55552	hgsc.bcm.edu	37	19	11833714	11833714	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr19:11833714C>A	ENST00000341191.6	-	4	788	c.635G>T	c.(634-636)aGa>aTa	p.R212I	ZNF823_ENST00000545749.1_Missense_Mutation_p.R30I	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						AGTGTGTGTTCTTTCGTGCAA	0.433										HNSCC(68;0.2)																																						0													103	109	107					19																	11833714		2199	4299	6498	SO:0001583	missense	55552			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.635G>T	chr19.hg19:g.11833714C>A	ENSP00000340683:p.Arg212Ile		A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	hg19	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	c	16.91	3.253614	0.59212	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.24908	1.83;1.83;1.83	0.632	0.632	0.17705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47432	0.1445	M	0.81179	2.53	0.39861	D	0.973379	D	0.89917	1.0	D	0.91635	0.999	T	0.51325	-0.8720	9	0.59425	D	0.04	.	8.7993	0.34898	0.0:1.0:0.0:0.0	.	212	P16415	ZN823_HUMAN	I	30;212;168	ENSP00000440162:R30I;ENSP00000340683:R212I;ENSP00000410654:R168I	ENSP00000340683:R212I	R	-	2	0	ZNF823	11694714	0.000000	0.05858	0.361000	0.25849	0.489000	0.33432	-1.844000	0.01679	0.618000	0.30179	0.298000	0.19748	AGA		0.433	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		A	11833714	C	A	11833714	3	1	14	1	0	0	0	0	1	0	0	0	18184	913	32	4	1201	4	ZNF823	19	11833714	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10		11833714	47295269	72	1015											
ZNF546	339327	hgsc.bcm.edu	37	19	40521590	40521590	+	Missense_Mutation	SNP	T	T	C	rs371824172		TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr19:40521590T>C	ENST00000347077.4	+	7	2629	c.2413T>C	c.(2413-2415)Tat>Cat	p.Y805H	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.Y779H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	805					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAAAAACCCTATCAATGTAA	0.358																																																0													55	56	56					19																	40521590		2203	4300	6503	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.2413T>C	chr19.hg19:g.40521590T>C	ENSP00000339823:p.Tyr805His		A8K913	Missense_Mutation	SNP	ENST00000347077.4	hg19	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	t	16.66	3.184714	0.57909	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.21734	1.99	3.08	3.08	0.35506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26484	0.0647	L	0.34521	1.04	0.22500	N	0.999044	P	0.50710	0.938	P	0.54238	0.746	T	0.05354	-1.0890	9	0.62326	D	0.03	.	9.8957	0.41318	0.0:0.0:0.0:1.0	.	805	Q86UE3	ZN546_HUMAN	H	805;414	ENSP00000339823:Y805H	ENSP00000339823:Y805H	Y	+	1	0	ZNF546	45213430	0.002000	0.14202	0.877000	0.34402	0.988000	0.76386	1.274000	0.33132	1.639000	0.50556	0.533000	0.62120	TAT		0.358	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		C	40521590	T	C	40521590	3	2	14	1	0	0	0	0	1	0	0	0	17983	1522	53	3	2431	3	ZNF546	19	40521590	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	28687876	40521590	18607393	73	1016											
ZNF534	147658	hgsc.bcm.edu	37	19	52941686	52941686	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr19:52941686C>T	ENST00000332323.6	+	4	1073	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	ZNF534_ENST00000433050.1_Missense_Mutation_p.P325S|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TGGAGAGAAACCTTATGATTG	0.408																																																0													60	54	56					19																	52941686		1568	3582	5150	SO:0001583	missense	147658			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1012C>T	chr19.hg19:g.52941686C>T	ENSP00000327538:p.Pro338Ser		Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	hg19	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162751	0.57368	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.16743	2.32;2.32	1.82	1.82	0.25136	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36580	0.0972	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.73380	0.98;0.724	T	0.22977	-1.0201	9	0.72032	D	0.01	.	10.6089	0.45410	0.0:1.0:0.0:0.0	.	325;338	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	S	338;325;337	ENSP00000327538:P338S;ENSP00000391358:P325S	ENSP00000327538:P338S	P	+	1	0	ZNF534	57633498	0.017000	0.18338	0.171000	0.22900	0.041000	0.13682	2.724000	0.47285	0.983000	0.38602	0.467000	0.42956	CCT		0.408	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		T	52941686	C	T	52941686	3	4	14	1	0	0	0	0	1	0	0	0	17978	507	18	2	1026	2	ZNF534	19	52941686	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	12420096	52941686	6187297	74	1017											
CEP250	11190	hgsc.bcm.edu	37	20	34091233	34091233	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr20:34091233A>T	ENST00000397527.1	+	30	5756	c.5036A>T	c.(5035-5037)aAg>aTg	p.K1679M	CEP250_ENST00000342580.4_Missense_Mutation_p.K1623M	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1679	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGGCAGACCAAGATCCTGGAG	0.572																																																0													108	116	113					20																	34091233		2203	4300	6503	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5036A>T	chr20.hg19:g.34091233A>T	ENSP00000380661:p.Lys1679Met		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	hg19	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374127	0.42105	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.50813	2.82;2.81;0.73	4.51	3.38	0.38709	.	0.096996	0.45361	D	0.000370	T	0.50905	0.1643	L	0.29908	0.895	0.20307	N	0.999913	D	0.89917	1.0	D	0.75484	0.986	T	0.28332	-1.0047	10	0.72032	D	0.01	.	7.1017	0.25340	0.8007:0.0:0.1993:0.0	.	1679	Q9BV73	CP250_HUMAN	M	1679;1623;167	ENSP00000380661:K1679M;ENSP00000341541:K1623M;ENSP00000395992:K167M	ENSP00000341541:K1623M	K	+	2	0	CEP250	33554647	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.847000	0.39299	1.906000	0.55180	0.374000	0.22700	AAG		0.572	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		T	34091233	A	T	34091233	3	4	14	1	0	0	0	0	1	0	0	0	3254	72	3	5	5142	5	CEP250	20	34091233	Missense_Mutation	SNP	A	TCGA-2Z-A9JK-01A-11D-A42J-10		34091233	28934287	75	1018											
DIDO1	11083	hgsc.bcm.edu	37	20	61528138	61528138	+	Missense_Mutation	SNP	A	A	T	rs545443252		TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr20:61528138A>T	ENST00000266070.4	-	7	2124	c.1799T>A	c.(1798-1800)cTc>cAc	p.L600H	DIDO1_ENST00000395343.1_Missense_Mutation_p.L600H|DIDO1_ENST00000395340.1_Missense_Mutation_p.L600H|DIDO1_ENST00000395335.2_Missense_Mutation_p.L600H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	600					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTAGCGGAGAGCCATGGCCT	0.602																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0													68	70	69					20																	61528138		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1799T>A	chr20.hg19:g.61528138A>T	ENSP00000266070:p.Leu600His		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	hg19	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.017626	0.35606	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13307	2.93;2.93;2.6;2.6	5.7	-0.659	0.11424	.	0.514056	0.13468	U	0.385637	T	0.11707	0.0285	M	0.62723	1.935	0.09310	N	1	B;B	0.23854	0.092;0.056	B;B	0.22880	0.042;0.019	T	0.29640	-1.0005	10	0.46703	T	0.11	-5.1348	2.052	0.03573	0.3424:0.145:0.3719:0.1407	.	600;600	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	H	600	ENSP00000266070:L600H;ENSP00000378752:L600H;ENSP00000378749:L600H;ENSP00000378744:L600H	ENSP00000266070:L600H	L	-	2	0	DIDO1	60998583	0.253000	0.23982	0.004000	0.12327	0.017000	0.09413	0.678000	0.25277	-0.398000	0.07679	-0.691000	0.03719	CTC		0.602	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		T	61528138	A	T	61528138	3	4	14	1	0	0	0	0	1	0	0	0	4524	304	11	5	4992	5	DIDO1	20	61528138	Missense_Mutation	SNP	A	TCGA-2Z-A9JK-01A-11D-A42J-10	27436905	61528138	1497382	76	1019											
PRIC285	85441	hgsc.bcm.edu	37	20	62191860	62191860	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr20:62191860T>A	ENST00000467148.1	-	16	7541	c.7472A>T	c.(7471-7473)aAg>aTg	p.K2491M	HELZ2_ENST00000427522.2_Missense_Mutation_p.K1922M	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2491	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CAGGTTGGCCTTGGAGTTCTC	0.632																																																0													183	172	176					20																	62191860		2203	4300	6503	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7472A>T	chr20.hg19:g.62191860T>A	ENSP00000417401:p.Lys2491Met		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	hg19	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.426968	0.62733	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.92446	-3.04;-3.04	4.12	1.67	0.24075	ATPase, AAA+ type, core (1);	0.371166	0.26804	N	0.022405	D	0.92743	0.7693	M	0.69823	2.125	0.35376	D	0.78947	P;D	0.52996	0.943;0.957	P;P	0.56648	0.803;0.734	D	0.92434	0.5956	10	0.66056	D	0.02	-29.268	6.5428	0.22390	0.0:0.5434:0.0:0.4566	.	2491;1922	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	M	1922;2491	ENSP00000393257:K1922M;ENSP00000417401:K2491M	ENSP00000393257:K1922M	K	-	2	0	RP4-697K14.7	61662304	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.575000	0.23729	0.508000	0.28173	0.402000	0.26972	AAG		0.632	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62191860	T	A	62191860	3	1	14	1	0	0	0	0	1	0	0	0	12490	1609	56	5	493	5	PRIC285	20	62191860	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	663722	62191860	833660	77	1020											
PRIC285	85441	hgsc.bcm.edu	37	20	62202151	62202151	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr20:62202151G>A	ENST00000467148.1	-	2	418	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	117					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGCGTGCGCCGGACCCACTCC	0.697																																																0													20	19	20					20																	62202151		2197	4293	6490	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.349C>T	chr20.hg19:g.62202151G>A	ENSP00000417401:p.Arg117Trp		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	hg19	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	9.347	1.064605	0.20067	.	.	ENSG00000130589	ENST00000467148	T	0.02682	4.2	4.57	0.183	0.15082	.	0.900092	0.09600	N	0.780350	T	0.02304	0.0071	N	0.22421	0.69	0.09310	N	1	B;B	0.20052	0.041;0.002	B;B	0.10450	0.005;0.001	T	0.45293	-0.9271	10	0.72032	D	0.01	-17.7927	5.2244	0.15385	0.245:0.2695:0.4855:0.0	.	117;117	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	W	117	ENSP00000417401:R117W	ENSP00000417401:R117W	R	-	1	2	RP4-697K14.7	61672595	0.012000	0.17670	0.000000	0.03702	0.001000	0.01503	1.831000	0.39141	0.087000	0.17167	-0.125000	0.14975	CGG		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62202151	G	A	62202151	3	1	14	1	0	0	0	0	1	0	0	0	12490	1115	39	1	7695	1	PRIC285	20	62202151	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	10291	62202151	823369	78	1021											
YWHAH	7533	hgsc.bcm.edu	37	22	32352566	32352566	+	Silent	SNP	C	C	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr22:32352566C>T	ENST00000248975.5	+	2	801	c.528C>T	c.(526-528)gcC>gcT	p.A176A	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	176					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						TGGGCCTGGCCCTCAACTTCT	0.522																																					Ovarian(98;460 2060 9263 44007)											0													73	63	66					22																	32352566		2203	4300	6503	SO:0001819	synonymous_variant	7533			X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"14-3-3 eta"	113508	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.528C>T	chr22.hg19:g.32352566C>T				Silent	SNP	ENST00000248975.5	hg19	CCDS13901.1																																																																																				0.522	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		T	32352566	C	T	32352566	2	4	14	1	0	0	0	0	0	0	0	1	17509	610	22	2		2	YWHAH	22	32352566	Silent	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10		32352566	18952000	79	1022											
DDX17	10521	hgsc.bcm.edu	37	22	38897263	38897263	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr22:38897263C>A	ENST00000396821.3	-	2	409	c.310G>T	c.(310-312)Ggc>Tgc	p.G104C	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.G25C	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	104	Poly-Gly.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GGGGGAAGGCCACCACCACCT	0.388																																					Ovarian(55;1085 1454 6392 21425)											0													72	73	73					22																	38897263		2203	4300	6503	SO:0001583	missense	10521			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.310G>T	chr22.hg19:g.38897263C>A	ENSP00000380033:p.Gly104Cys		B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	hg19	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476078	0.84640	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.31510	1.49;1.49;1.49	5.58	5.58	0.84498	.	0.187005	0.56097	D	0.000023	T	0.37732	0.1014	N	0.19112	0.55	0.80722	D	1	P;D;D	0.65815	0.938;0.992;0.995	B;P;P	0.60473	0.282;0.754;0.875	T	0.18429	-1.0337	10	0.56958	D	0.05	-11.3755	15.4155	0.74962	0.0:0.8215:0.1785:0.0	.	25;106;104	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	C	104;25;104;106	ENSP00000380033:G104C;ENSP00000371046:G25C;ENSP00000385536:G104C	ENSP00000371046:G25C	G	-	1	0	DDX17	37227209	0.996000	0.38824	1.000000	0.80357	0.985000	0.73830	3.659000	0.54489	2.625000	0.88918	0.591000	0.81541	GGC		0.388	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		A	38897263	C	A	38897263	3	1	14	1	0	0	0	0	1	0	0	0	4346	594	21	4	1933	4	DDX17	22	38897263	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	6544697	38897263	12407303	80	1023											
LDOC1L	84247	hgsc.bcm.edu	37	22	44892956	44892956	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chr22:44892956G>C	ENST00000341255.3	-	2	990	c.481C>G	c.(481-483)Ccc>Gcc	p.P161A		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	161										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		TTGCGCAAGGGGCTGTCAGGT	0.627																																																0													44	45	44					22																	44892956		2203	4300	6503	SO:0001583	missense	84247			CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.481C>G	chr22.hg19:g.44892956G>C	ENSP00000340434:p.Pro161Ala		Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	hg19	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636050	0.67130	.	.	ENSG00000188636	ENST00000341255	T	0.20598	2.06	3.1	3.1	0.35709	.	0.000000	0.46442	D	0.000284	T	0.26629	0.0651	L	0.39898	1.24	0.31559	N	0.657769	D	0.53151	0.958	P	0.54759	0.76	T	0.11690	-1.0577	10	0.54805	T	0.06	-18.0316	9.9334	0.41537	0.0:0.0:1.0:0.0	.	161	Q6ICC9	LDOCL_HUMAN	A	161	ENSP00000340434:P161A	ENSP00000340434:P161A	P	-	1	0	LDOC1L	43271620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.858000	0.55979	2.054000	0.61138	0.591000	0.81541	CCC		0.627	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		C	44892956	G	C	44892956	3	2	14	1	0	0	0	0	1	0	0	0	8712	1232	43	4	242	4	LDOC1L	22	44892956	Missense_Mutation	SNP	G	TCGA-2Z-A9JK-01A-11D-A42J-10	5995693	44892956	6411610	81	1024											
KLHL15	80311	hgsc.bcm.edu	37	X	24006241	24006241	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chrX:24006241delT	ENST00000328046.8	-	4	1867	c.1612delA	c.(1612-1614)actfs	p.T538fs		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	538					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TCCAGCACAGTCACACCATGG	0.458																																																0													210	179	190					X																	24006241		2203	4300	6503	SO:0001589	frameshift_variant	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1612delA	chrX.hg19:g.24006241delT	ENSP00000332791:p.Thr538fs		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Frame_Shift_Del	DEL	ENST00000328046.8	hg19	CCDS35217.1																																																																																				0.458	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		-	24006241	T	-	24006241	7	5	14	1	0	1	0	1	0	0	0	0	8373	1667	58	0	206	0	KLHL15	23	24006241	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JK-01A-11D-A42J-10		24006241	131264319	82	1025											
TAF7L	54457	hgsc.bcm.edu	37	X	100533091	100533091	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chrX:100533091C>T	ENST00000372907.3	-	8	792	c.781G>A	c.(781-783)Gtg>Atg	p.V261M	TAF7L_ENST00000324762.6_Missense_Mutation_p.V175M|TAF7L_ENST00000372905.2_Missense_Mutation_p.V175M|TAF7L_ENST00000356784.1_Missense_Mutation_p.V175M	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	261					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TCATTTTCCACGTCTGGAGAT	0.448																																					Ovarian(104;431 1530 3210 15406 18594)											0													108	94	98					X																	100533091		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.781G>A	chrX.hg19:g.100533091C>T	ENSP00000361998:p.Val261Met		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	hg19	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001964	0.54254	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.29917	3.63;1.55;1.55;3.03	5.08	4.21	0.49690	TAFII55 protein, conserved region (1);Armadillo-like helical (1);	0.597438	0.13950	N	0.351626	T	0.64305	0.2586	M	0.91249	3.19	0.42809	D	0.993953	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.70536	-0.4845	10	0.87932	D	0	-4.719	14.2598	0.66078	0.1501:0.8499:0.0:0.0	.	261;175	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	M	261;175;175;175	ENSP00000361998:V261M;ENSP00000361996:V175M;ENSP00000320283:V175M;ENSP00000349235:V175M	ENSP00000320283:V175M	V	-	1	0	TAF7L	100419747	1.000000	0.71417	0.971000	0.41717	0.421000	0.31385	5.391000	0.66266	1.000000	0.39049	0.600000	0.82982	GTG		0.448	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			T	100533091	C	T	100533091	3	4	14	1	0	0	0	0	1	0	0	0	15538	536	19	1	631	1	TAF7L	23	100533091	Missense_Mutation	SNP	C	TCGA-2Z-A9JK-01A-11D-A42J-10	76526850	100533091	54737469	83	1026											
GLRA4	441509	hgsc.bcm.edu	37	X	102979831	102979831	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chrX:102979831A>G	ENST00000372617.4	-	2	617	c.197T>C	c.(196-198)tTt>tCt	p.F66S	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	66						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTTACCTTTAAAATTGGGCCG	0.498																																																0													67	66	66					X																	102979831		1924	4150	6074	SO:0001583	missense	441509			Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.197T>C	chrX.hg19:g.102979831A>G	ENSP00000361700:p.Phe66Ser			Missense_Mutation	SNP	ENST00000372617.4	hg19	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	A	18.89	3.718769	0.68844	.	.	ENSG00000188828	ENST00000372617	T	0.78246	-1.16	5.79	5.79	0.91817	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	M	0.68952	2.095	0.58432	D	0.999995	B;P	0.36712	0.389;0.566	P;B	0.46208	0.507;0.378	T	0.83188	-0.0085	10	0.87932	D	0	.	12.8792	0.58008	1.0:0.0:0.0:0.0	.	66;25	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	S	66	ENSP00000361700:F66S	ENSP00000361700:F66S	F	-	2	0	GLRA4	102866487	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.339000	0.96797	1.949000	0.56562	0.430000	0.28490	TTT		0.498	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		G	102979831	A	G	102979831	3	3	14	1	0	0	0	0	1	0	0	0	6459	14	1	3	1183	3	GLRA4	23	102979831	Missense_Mutation	SNP	A	TCGA-2Z-A9JK-01A-11D-A42J-10	2446740	102979831	52290729	84	1027											
BCORL1	63035	hgsc.bcm.edu	37	X	129189870	129189870	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JK-01A-11D-A42J-10	TCGA-2Z-A9JK-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3603eaf-6e76-43f5-b87f-ab5d8e0f825f	8d7349a0-4f31-4374-9461-c37dd99f05ed	g.chrX:129189870T>G	ENST00000218147.7	+	13	5092	c.4895T>G	c.(4894-4896)cTg>cGg	p.L1632R	BCORL1_ENST00000540052.1_Missense_Mutation_p.L1632R|BCORL1_ENST00000359304.2_Missense_Mutation_p.L1502R|BCORL1_ENST00000303743.5_Missense_Mutation_p.L1706R			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1632					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTGAAGAGGCTGAAGCTTTCC	0.572																																																0													138	132	134					X																	129189870		2203	4300	6503	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4895T>G	chrX.hg19:g.129189870T>G	ENSP00000218147:p.Leu1632Arg		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	hg19	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374672	0.61735	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.55052	0.66;0.54;0.68;0.66;0.59	4.6	4.6	0.57074	.	0.000000	0.28166	N	0.016356	T	0.68686	0.3028	M	0.71036	2.16	0.53688	D	0.999976	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	T	0.71738	-0.4502	10	0.87932	D	0	-9.3763	9.9728	0.41765	0.1531:0.0:0.0:0.8469	.	1706;1632	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	R	1632;1706;1502;1632;1306	ENSP00000218147:L1632R;ENSP00000307541:L1706R;ENSP00000352253:L1502R;ENSP00000437775:L1632R;ENSP00000399483:L1306R	ENSP00000218147:L1632R	L	+	2	0	BCORL1	129017551	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.720000	0.68470	1.704000	0.51252	0.417000	0.27973	CTG		0.572	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		G	129189870	T	G	129189870	3	3	14	1	0	0	0	0	1	0	0	0	1387	1580	55	5	5167	5	BCORL1	23	129189870	Missense_Mutation	SNP	T	TCGA-2Z-A9JK-01A-11D-A42J-10	26210039	129189870	26080690	85	1028											
ZBTB48	3104	hgsc.bcm.edu	37	1	6640799	6640799	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr1:6640799C>T	ENST00000377674.4	+	2	288	c.130C>T	c.(130-132)Ctt>Ttt	p.L44F		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	44	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGAGTGTCCTTGCCTGCTG	0.602																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)											0													110	102	105					1																	6640799		2203	4300	6503	SO:0001583	missense	3104			BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4930	protein-coding gene	gene with protein product		165270	"GLI-Kruppel family member HKR3"	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.130C>T	chr1.hg19:g.6640799C>T	ENSP00000366902:p.Leu44Phe		Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	hg19	CCDS84.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035982	0.75617	.	.	ENSG00000204859	ENST00000319084;ENST00000435905;ENST00000377674	T;T;T	0.64991	-0.13;-0.13;-0.13	5.72	2.83	0.33086	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.065722	0.64402	D	0.000011	D	0.83613	0.5292	H	0.98466	4.24	0.58432	D	0.999995	D	0.89917	1.0	D	0.71870	0.975	T	0.81543	-0.0885	10	0.87932	D	0	-16.7317	5.8832	0.18866	0.0:0.636:0.1391:0.2249	.	44	P10074	ZBT48_HUMAN	F	44	ENSP00000313416:L44F;ENSP00000416054:L44F;ENSP00000366902:L44F	ENSP00000313416:L44F	L	+	1	0	ZBTB48	6563386	0.985000	0.35326	0.031000	0.17742	0.925000	0.55904	3.095000	0.50235	0.338000	0.23692	-0.176000	0.13171	CTT		0.602	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		T	6640799	C	T	6640799	3	4	15	1	0	0	0	0	1	0	0	0	17554	681	24	2	132	2	ZBTB48	1	6640799	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10		6640799	242609822	1	1029											
NIPAL3	57185	hgsc.bcm.edu	37	1	24782759	24782759	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr1:24782759G>A	ENST00000374399.4	+	8	1137	c.769G>A	c.(769-771)Gct>Act	p.A257T	NIPAL3_ENST00000339255.2_Missense_Mutation_p.A257T|NIPAL3_ENST00000003912.3_Missense_Mutation_p.A175T	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	257						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CGTCTATCAGGCTGCGTGAGT	0.552																																																0													400	354	370					1																	24782759		2203	4300	6503	SO:0001583	missense	57185			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.769G>A	chr1.hg19:g.24782759G>A	ENSP00000363520:p.Ala257Thr		A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	hg19	CCDS30631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.445577|4.445577	0.84101|0.84101	.|.	.|.	ENSG00000001461|ENSG00000001461	ENST00000374399;ENST00000003912;ENST00000339255|ENST00000432012	D;D;D|.	0.90004|.	-2.6;-2.6;-2.6|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.043600|.	0.85682|.	D|.	0.000000|.	T|T	0.74898|0.74898	0.3777|0.3777	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.974;0.999;0.999|.	T|T	0.72669|0.72669	-0.4223|-0.4223	10|5	0.72032|.	D|.	0.01|.	-25.3634|-25.3634	18.717|18.717	0.91679|0.91679	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	35;257;257|.	Q7Z354;Q6P499;A6NN97|.	.;NPAL3_HUMAN;.|.	T|D	257;175;257|35	ENSP00000363520:A257T;ENSP00000003912:A175T;ENSP00000343549:A257T|.	ENSP00000003912:A175T|.	A|G	+|+	1|2	0|0	NIPAL3|NIPAL3	24655346|24655346	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.538000|0.538000	0.34931|0.34931	7.419000|7.419000	0.80179|0.80179	2.745000|2.745000	0.94114|0.94114	0.561000|0.561000	0.74099|0.74099	GCT|GGC		0.552	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		A	24782759	G	A	24782759	3	1	15	1	0	0	0	0	1	0	0	0	10428	1203	42	2	795	2	NIPAL3	1	24782759	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	18141960	24782759	224467862	2	1030											
MAN1C1	57134	hgsc.bcm.edu	37	1	26107539	26107539	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr1:26107539A>G	ENST00000374332.4	+	10	1916	c.1586A>G	c.(1585-1587)tAc>tGc	p.Y529C	MAN1C1_ENST00000263979.3_Missense_Mutation_p.Y349C|MAN1C1_ENST00000374329.1_Missense_Mutation_p.Y300C	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	529					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GTGGAGAGCTACATGTACCTG	0.632																																																0													85	86	86					1																	26107539		2203	4300	6503	SO:0001583	missense	57134			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1586A>G	chr1.hg19:g.26107539A>G	ENSP00000363452:p.Tyr529Cys		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	hg19	CCDS265.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609272	0.87258	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.72051	-0.62;-0.62;-0.62	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	M	0.89840	3.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89675	0.3886	10	0.87932	D	0	.	15.1618	0.72791	1.0:0.0:0.0:0.0	.	529	Q9NR34	MA1C1_HUMAN	C	529;349;349;300	ENSP00000363452:Y529C;ENSP00000263979:Y349C;ENSP00000363449:Y300C	ENSP00000263979:Y349C	Y	+	2	0	MAN1C1	25980126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.257000	0.78362	1.990000	0.58119	0.459000	0.35465	TAC		0.632	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		G	26107539	A	G	26107539	3	3	15	1	0	0	0	0	1	0	0	0	9215	391	14	3	1624	3	MAN1C1	1	26107539	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	1324780	26107539	223143082	3	1031											
MED18	54797	hgsc.bcm.edu	37	1	28661029	28661029	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr1:28661029C>A	ENST00000373842.4	+	3	384	c.175C>A	c.(175-177)Ctc>Atc	p.L59I	MED18_ENST00000398997.2_Missense_Mutation_p.L59I|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	59						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGTATTCCTCCTTAAGGG	0.542																																																0													201	198	199					1																	28661029		2203	4300	6503	SO:0001583	missense	54797			BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.175C>A	chr1.hg19:g.28661029C>A	ENSP00000362948:p.Leu59Ile		D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	hg19	CCDS322.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511243	0.44660	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.75	4.82	0.62117	Mediator complex, subunit Med18, metazoa/fungi (1);	0.122337	0.56097	N	0.000029	T	0.28433	0.0703	N	0.16478	0.41	0.25320	N	0.989127	B	0.11235	0.004	B	0.10450	0.005	T	0.13683	-1.0500	9	0.31617	T	0.26	-17.3861	13.8543	0.63517	0.1541:0.8459:0.0:0.0	.	59	Q9BUE0	MED18_HUMAN	I	59	.	ENSP00000362948:L59I	L	+	1	0	MED18	28533616	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	5.634000	0.67833	1.418000	0.47098	0.655000	0.94253	CTC		0.542	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		A	28661029	C	A	28661029	3	1	15	1	0	0	0	0	1	0	0	0	9438	681	24	4	181	4	MED18	1	28661029	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	2553490	28661029	220589592	4	1032											
MAGI3	260425	hgsc.bcm.edu	37	1	113933805	113933805	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr1:113933805G>C	ENST00000307546.9	+	1	225	c.150G>C	c.(148-150)gaG>gaC	p.E50D	MAGI3_ENST00000369617.4_Missense_Mutation_p.E50D|MAGI3_ENST00000369615.1_Missense_Mutation_p.E50D|MAGI3_ENST00000369611.4_Missense_Mutation_p.E50D|MAGI3_ENST00000486456.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	50	Interaction with ADRB1 and TGFA. {ECO:0000250}.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTCCGCGAGGAGCCCGGCG	0.751																																																0													6	8	7					1																	113933805		2042	4028	6070	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.150G>C	chr1.hg19:g.113933805G>C	ENSP00000304604:p.Glu50Asp		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	hg19	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383157	0.42207	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.15603	2.54;2.41;2.55;2.55	3.94	0.539	0.17156	.	0.435271	0.20391	N	0.093244	T	0.04724	0.0128	L	0.42245	1.32	0.23784	N	0.996855	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.43442	-0.9391	10	0.17369	T	0.5	-0.2476	13.3417	0.60549	0.0:0.4771:0.5229:0.0	.	50;50;50	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	D	50	ENSP00000358630:E50D;ENSP00000304604:E50D;ENSP00000358628:E50D;ENSP00000358624:E50D	ENSP00000304604:E50D	E	+	3	2	MAGI3	113735328	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	1.935000	0.40173	0.126000	0.18424	0.456000	0.33151	GAG		0.751	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		C	113933805	G	C	113933805	3	2	15	1	0	0	0	0	1	0	0	0	9194	991	35	4	152	4	MAGI3	1	113933805	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	85272776	113933805	135316816	5	1033											
VANGL1	81839	hgsc.bcm.edu	37	1	116228127	116228127	+	Silent	SNP	C	C	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr1:116228127C>T	ENST00000355485.2	+	7	1564	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	VANGL1_ENST00000369509.1_Silent_p.I431I|VANGL1_ENST00000310260.3_Silent_p.I431I|VANGL1_ENST00000369510.4_Silent_p.I429I	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	431					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTTCTGCATCACCAACGGCA	0.607																																																0													54	45	48					1																	116228127		2203	4300	6503	SO:0001819	synonymous_variant	81839			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1293C>T	chr1.hg19:g.116228127C>T			Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Silent	SNP	ENST00000355485.2	hg19	CCDS883.1																																																																																				0.607	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			T	116228127	C	T	116228127	2	4	15	1	0	0	0	0	0	0	0	1	17124	816	29	2		2	VANGL1	1	116228127	Silent	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	2294322	116228127	133022494	6	1034											
LOR	4014	hgsc.bcm.edu	37	1	153233991	153233991	+	Missense_Mutation	SNP	A	A	G	rs11272549|rs561634896	byFrequency	TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr1:153233991A>G	ENST00000368742.3	+	2	623	c.566A>G	c.(565-567)tAc>tGc	p.Y189C		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	189			Y -> YSGGG (in dbSNP:rs11275959). {ECO:0000269|PubMed:1355480, ECO:0000269|PubMed:2007607}.		keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gtctgcggctactctggcggc	0.741																																																0													1	1	1					1																	153233991		409	1072	1481	SO:0001583	missense	4014			M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.566A>G	chr1.hg19:g.153233991A>G	ENSP00000357731:p.Tyr189Cys		Q5T869|Q5XKF8	Missense_Mutation	SNP	ENST00000368742.3	hg19	CCDS30870.1	.	.	.	.	.	.	.	.	.	.	A	4.164	0.028992	0.08054	.	.	ENSG00000203782	ENST00000368742;ENST00000392652	T	0.38401	1.14	3.99	-7.07	0.01563	.	.	.	.	.	T	0.06462	0.0166	N	0.08118	0	0.09310	N	1	P	0.49447	0.924	B	0.43301	0.415	T	0.21895	-1.0232	9	0.87932	D	0	.	6.6851	0.23140	0.1469:0.4008:0.4523:0.0	.	189	P23490	LORI_HUMAN	C	189	ENSP00000357731:Y189C	ENSP00000357731:Y189C	Y	+	2	0	LOR	151500615	0.010000	0.17322	0.007000	0.13788	0.401000	0.30781	-0.173000	0.09854	-1.412000	0.02030	-0.817000	0.03123	TAC		0.741	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427		G	153233991	A	G	153233991	3	3	15	1	0	0	0	0	1	0	0	0	8899	391	14	3	568	3	LOR	1	153233991	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	37005864	153233991	96016630	7	1035											
MEF2D	4209	hgsc.bcm.edu	37	1	156444934	156444934	+	Silent	SNP	G	G	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr1:156444934G>A	ENST00000348159.4	-	9	1452	c.972C>T	c.(970-972)ctC>ctT	p.L324L	MEF2D_ENST00000360595.3_Silent_p.L317L|MEF2D_ENST00000464356.2_Silent_p.L316L|MEF2D_ENST00000340875.5_Silent_p.L323L|MEF2D_ENST00000353795.3_Silent_p.L278L|MEF2D_ENST00000368240.2_Silent_p.L317L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	324					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGAGAAGGGGAGGCCCTGGC	0.562																																																0													125	113	117					1																	156444934		2203	4300	6503	SO:0001819	synonymous_variant	4209			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.972C>T	chr1.hg19:g.156444934G>A			D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	hg19	CCDS1143.1																																																																																				0.562	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		A	156444934	G	A	156444934	2	1	15	1	0	0	0	0	0	0	0	1	9460	1161	41	2		2	MEF2D	1	156444934	Silent	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	3210943	156444934	92805687	8	1036											
IGSF8	93185	hgsc.bcm.edu	37	1	160063548	160063548	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr1:160063548T>G	ENST00000368086.1	-	3	1072	c.856A>C	c.(856-858)Att>Ctt	p.I286L	IGSF8_ENST00000314485.7_Missense_Mutation_p.I286L|IGSF8_ENST00000460351.1_5'Flank			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	286	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TTCTCTGCAATCTGGGCCCAG	0.607																																																0													40	35	36					1																	160063548		2203	4300	6503	SO:0001583	missense	93185			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.856A>C	chr1.hg19:g.160063548T>G	ENSP00000357065:p.Ile286Leu		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	hg19	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.603020	0.46423	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.09817	3.4;3.4;2.94	3.64	2.5	0.30297	Immunoglobulin subtype (1);	0.369184	0.25747	N	0.028562	T	0.02119	0.0066	L	0.29908	0.895	0.34147	D	0.667062	B	0.28055	0.199	B	0.20577	0.03	T	0.46331	-0.9199	10	0.21540	T	0.41	-5.507	7.4263	0.27100	0.0:0.1134:0.0:0.8866	.	286	Q969P0	IGSF8_HUMAN	L	286	ENSP00000316664:I286L;ENSP00000357065:I286L;ENSP00000397464:I286L	ENSP00000316664:I286L	I	-	1	0	IGSF8	158330172	1.000000	0.71417	0.843000	0.33291	0.928000	0.56348	4.346000	0.59367	0.595000	0.29777	0.402000	0.26972	ATT		0.607	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		G	160063548	T	G	160063548	3	3	15	1	0	0	0	0	1	0	0	0	7606	1435	50	5	1001	5	IGSF8	1	160063548	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	3618614	160063548	89187073	9	1037											
UAP1	6675	hgsc.bcm.edu	37	1	162551113	162551113	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr1:162551113A>G	ENST00000367925.1	+	4	730	c.698A>G	c.(697-699)cAg>cGg	p.Q233R	UAP1_ENST00000367926.4_Missense_Mutation_p.Q233R|UAP1_ENST00000367924.1_Missense_Mutation_p.Q233R|UAP1_ENST00000271469.3_Missense_Mutation_p.Q233R			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	233					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTGCAGCCCAGAATATTGTG	0.408																																																0													221	224	223					1																	162551113		2203	4300	6503	SO:0001583	missense	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.698A>G	chr1.hg19:g.162551113A>G	ENSP00000356902:p.Gln233Arg		B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	hg19		.	.	.	.	.	.	.	.	.	.	A	11.45	1.642238	0.29157	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.14	4.01	0.46588	.	0.337918	0.35838	N	0.002956	T	0.03220	0.0094	N	0.16266	0.395	0.37520	D	0.917514	B	0.02656	0.0	B	0.04013	0.001	T	0.39663	-0.9603	9	0.18710	T	0.47	-3.3684	10.0169	0.42020	0.9193:0.0:0.0807:0.0	.	233	Q16222-2	.	R	233	ENSP00000356903:Q233R;ENSP00000271469:Q233R;ENSP00000356902:Q233R;ENSP00000356901:Q233R	ENSP00000271469:Q233R	Q	+	2	0	UAP1	160817737	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	5.904000	0.69886	0.902000	0.36520	0.482000	0.46254	CAG		0.408	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		G	162551113	A	G	162551113	3	3	15	1	0	0	0	0	1	0	0	0	16830	188	7	3	712	3	UAP1	1	162551113	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	2487565	162551113	86699508	10	1038											
RGL1	23179	hgsc.bcm.edu	37	1	183775571	183775571	+	Silent	SNP	A	A	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr1:183775571A>G	ENST00000360851.3	+	2	268	c.90A>G	c.(88-90)aaA>aaG	p.K30K	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Silent_p.K65K|RGL1_ENST00000539189.1_Silent_p.K30K			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	30					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCACCCTCAAAAGAGTCCAGA	0.478																																																0													108	101	103					1																	183775571		2203	4300	6503	SO:0001819	synonymous_variant	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.90A>G	chr1.hg19:g.183775571A>G			Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	hg19																																																																																					0.478	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		G	183775571	A	G	183775571	2	3	15	1	0	0	0	0	0	0	0	1	13282	11	1	3		3	RGL1	1	183775571	Silent	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	21224458	183775571	65475050	11	1039											
TPO	7173	hgsc.bcm.edu	37	2	1507790	1507790	+	Silent	SNP	C	C	T	rs529772798		TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr2:1507790C>T	ENST00000345913.4	+	14	2548	c.2457C>T	c.(2455-2457)ggC>ggT	p.G819G	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.G646G|TPO_ENST00000382201.3_Silent_p.G762G|TPO_ENST00000329066.4_Silent_p.G819G|TPO_ENST00000382198.1_Silent_p.G646G|TPO_ENST00000337415.3_Silent_p.G819G|TPO_ENST00000346956.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	819	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACACCAAAGGCGGCTTCCAGT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		15689	0.0		0.0	False		,,,				2504	0.001															0													80	77	78					2																	1507790		2203	4300	6503	SO:0001819	synonymous_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2457C>T	chr2.hg19:g.1507790C>T			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	hg19	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	1.431	-0.570373	0.03910	.	.	ENSG00000115705	ENST00000446278	.	.	.	4.4	0.28	0.15682	.	.	.	.	.	T	0.51075	0.1653	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34104	-0.9842	4	.	.	.	-25.6411	5.437	0.16486	0.4042:0.4402:0.0:0.1556	.	.	.	.	V	294	.	.	A	+	2	0	TPO	1486797	0.097000	0.21791	0.962000	0.40283	0.072000	0.16883	-0.085000	0.11250	-0.290000	0.09025	-0.898000	0.02899	GCG		0.612	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1507790	C	T	1507790	2	4	15	1	0	0	0	0	0	0	0	1	16415	755	27	1		1	TPO	2	1507790	Silent	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10		1507790	241691583	12	1040											
ODC1	4953	hgsc.bcm.edu	37	2	10584694	10584694	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr2:10584694C>G	ENST00000234111.4	-	4	692	c.182G>C	c.(181-183)cGt>cCt	p.R61P	ODC1_ENST00000446285.1_Intron|ODC1_ENST00000405333.1_Missense_Mutation_p.R61P|SNORA80B_ENST00000383906.1_RNA	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	61					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	GGGGGTGACACGAGGGAGAGC	0.473																																																0													100	96	98					2																	10584694		2203	4300	6503	SO:0001583	missense	4953				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.182G>C	chr2.hg19:g.10584694C>G	ENSP00000234111:p.Arg61Pro		Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	hg19	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427288	0.83667	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000443218	T;T	0.51817	0.69;0.69	5.37	4.46	0.54185	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.91920	3.255	0.80722	D	1	P	0.52170	0.951	P	0.56648	0.803	T	0.77988	-0.2380	10	0.56958	D	0.05	.	16.1391	0.81512	0.0:0.8669:0.1331:0.0	.	61	P11926	DCOR_HUMAN	P	61	ENSP00000234111:R61P;ENSP00000385333:R61P	ENSP00000234111:R61P	R	-	2	0	ODC1	10502145	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.865000	0.62998	2.508000	0.84585	0.655000	0.94253	CGT		0.473	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			G	10584694	C	G	10584694	3	3	15	1	0	0	0	0	1	0	0	0	10827	536	19	4	1239	4	ODC1	2	10584694	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	9076904	10584694	232614679	13	1041											
APOB	338	hgsc.bcm.edu	37	2	21266783	21266783	+	Missense_Mutation	SNP	A	A	G	rs17240441	byFrequency	TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr2:21266783A>G	ENST00000233242.1	-	1	162	c.35T>C	c.(34-36)cTg>cCg	p.L12P	APOB_ENST00000399256.4_Missense_Mutation_p.L12P	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	12			Missing. {ECO:0000269|PubMed:22095935}.	Missing (in Ref. 5; AAB60718/CAA28420). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					aggcagcgccagcagcgccag	0.806																																																0													1	1	1					2																	21266783		310	673	983	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.35T>C	chr2.hg19:g.21266783A>G	ENSP00000233242:p.Leu12Pro		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	9.939	1.216839	0.22373	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.10763	5.13;2.84	2.53	-2.89	0.05665	.	2.226600	0.02990	N	0.146703	T	0.08714	0.0216	L	0.27053	0.805	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.41324	-0.9515	10	0.66056	D	0.02	.	7.1381	0.25539	0.5833:0.0:0.4167:0.0	.	12	P04114	APOB_HUMAN	P	12	ENSP00000233242:L12P;ENSP00000382200:L12P	ENSP00000233242:L12P	L	-	2	0	APOB	21120288	0.325000	0.24660	0.003000	0.11579	0.001000	0.01503	-0.176000	0.09811	-0.683000	0.05190	-1.342000	0.01247	CTG		0.806	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			G	21266783	A	G	21266783	3	3	15	1	0	0	0	0	1	0	0	0	785	188	7	3	13772	3	APOB	2	21266783	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	10682089	21266783	221932590	14	1042											
FKBP1B	2281	hgsc.bcm.edu	37	2	24283781	24283782	+	Frame_Shift_Del	DEL	AG	AG	-	rs146963692		TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr2:24283781_24283782delAG	ENST00000380986.4	+	3	319_320	c.183_184delAG	c.(181-186)gaagagfs	p.EE61fs	FKBP1B_ENST00000380991.4_Frame_Shift_Del_p.EE61fs|FKBP1B_ENST00000452109.1_Frame_Shift_Del_p.EE32fs	NM_004116.3|NM_054033.2	NP_004107.1|NP_473374.1	P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa	61	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				'de novo' protein folding (GO:0006458)|calcium ion transmembrane transport (GO:0070588)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|chaperone-mediated protein folding (GO:0061077)|cytosolic calcium ion homeostasis (GO:0051480)|insulin secretion (GO:0030073)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neuronal action potential propagation (GO:0019227)|positive regulation of axon regeneration (GO:0048680)|positive regulation of sequestering of calcium ion (GO:0051284)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to redox state (GO:0051775)|response to vitamin E (GO:0033197)|smooth muscle contraction (GO:0006939)|T cell proliferation (GO:0042098)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium channel inhibitor activity (GO:0019855)|cyclic nucleotide binding (GO:0030551)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|receptor binding (GO:0005102)			lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGTTTTGAAGAGGGTGCAGC	0.49											OREG0014491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	2281			D38037	CCDS1706.1, CCDS33153.1	2p23.3	2013-03-20	2002-08-29		ENSG00000119782	ENSG00000119782			3712	protein-coding gene	gene with protein product	"calstabin 2"	600620	"FK506-binding protein 1B (12.6 kD)"	FKBP1L		7513996	Standard	NM_004116		Approved	OTK4, FKBP12.6, PPIase, FKBP9	uc002rer.3	P68106	OTTHUMG00000151889	ENST00000380986.4:c.183_184delAG	chr2.hg19:g.24283783_24283784delAG	ENSP00000370373:p.Glu61fs	770	Q13664|Q16645|Q53TM2|Q9BQ40	Frame_Shift_Del	DEL	ENST00000380986.4	hg19	CCDS1706.1																																																																																				0.49	FKBP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207622.1	NM_004116		-	24283782	AG	-	24283781	7	5	15	1	0	1	0	1	0	0	0	0	5909	69	3	0	193	0	FKBP1B	2	24283781	Frame_Shift_Del	DEL	AG	TCGA-2Z-A9JL-01A-11D-A42J-10	3016998	24283781	218915592	15	1043											
USP34	9736	hgsc.bcm.edu	37	2	61415653	61415653	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr2:61415653T>A	ENST00000398571.2	-	80	10301	c.10225A>T	c.(10225-10227)Aat>Tat	p.N3409Y	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3409					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACAGAACTATTTTCAGGGGAA	0.443																																																0													103	96	98					2																	61415653		1910	4131	6041	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10225A>T	chr2.hg19:g.61415653T>A	ENSP00000381577:p.Asn3409Tyr		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	hg19	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.19|15.19	2.760105|2.760105	0.49468|0.49468	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	.|T	.|0.03860	.|3.78	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.196719	.|0.53938	.|D	.|0.000049	T|T	0.05686|0.05686	0.0149|0.0149	N|N	0.24115|0.24115	0.695|0.695	0.40804|0.40804	D|D	0.98336|0.98336	.|P	.|0.42785	.|0.79	.|B	.|0.41723	.|0.365	T|T	0.42275|0.42275	-0.9461|-0.9461	5|10	.|0.59425	.|D	.|0.04	.|.	15.9357|15.9357	0.79704|0.79704	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3409	.|Q70CQ2	.|UBP34_HUMAN	I|Y	1085|3257;3174;3409;287	.|ENSP00000381577:N3409Y	.|ENSP00000263989:N3257Y	K|N	-|-	2|1	0|0	USP34|USP34	61269157|61269157	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.873000|0.873000	0.50193|0.50193	5.146000|5.146000	0.64845|0.64845	2.218000|2.218000	0.71995|0.71995	0.482000|0.482000	0.46254|0.46254	AAA|AAT		0.443	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			A	61415653	T	A	61415653	3	1	15	1	0	0	0	0	1	0	0	0	17070	1841	64	5	419	5	USP34	2	61415653	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	37131872	61415653	181783720	16	1044											
ALS2CR4	65062	hgsc.bcm.edu	37	2	202507331	202507331	+	Intron	SNP	C	C	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr2:202507331C>G	ENST00000409883.2	-	1	159				TMEM237_ENST00000409444.2_Splice_Site	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237						cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						GGCTCGCTTACCACAGGATTC	0.602																																																0													54	53	54					2																	202507331		1839	4091	5930	SO:0001627	intron_variant	65062			AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.42+750G>C	chr2.hg19:g.202507331C>G			B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Splice_Site	SNP	ENST00000409883.2	hg19	CCDS46489.1	.	.	.	.	.	.	.	.	.	.	C	9.997	1.232443	0.22626	.	.	ENSG00000155755	ENST00000409444;ENST00000426684	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3694	0.55246	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM237	202215576	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	3.211000	0.51137	2.378000	0.81104	0.650000	0.86243	.		0.602	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		G	202507331	C	G	202507331	1	3	15	0	1	0	0	0	0	0	0	0	554	521	18	4		4	ALS2CR4	2	202507331	Intron	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	141091678	202507331	40692042	17	1045											
UGT1A5	54579	hgsc.bcm.edu	37	2	234621902	234621902	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr2:234621902T>A	ENST00000373414.3	+	1	265	c.265T>A	c.(265-267)Ttt>Att	p.F89I	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.F89I|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	89						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CCAGGACGAATTTGATCGCCT	0.418																																																0													113	107	109					2																	234621902		2203	4300	6503	SO:0001583	missense	54579			M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.265T>A	chr2.hg19:g.234621902T>A	ENSP00000362513:p.Phe89Ile		B8K294	Missense_Mutation	SNP	ENST00000373414.3	hg19	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.687353	0.29962	.	.	ENSG00000240224	ENST00000373414	T	0.64085	-0.08	4.72	3.54	0.40534	.	0.648102	0.15890	N	0.239620	T	0.53045	0.1772	L	0.41710	1.295	0.09310	N	1	B;B	0.32467	0.372;0.372	B;B	0.35727	0.209;0.209	T	0.42327	-0.9458	10	0.37606	T	0.19	.	9.8612	0.41116	0.3562:0.0:0.0:0.6438	.	89;89	Q5DSZ9;P35504	.;UD15_HUMAN	I	89	ENSP00000362513:F89I	ENSP00000362513:F89I	F	+	1	0	UGT1A5	234286641	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.003000	0.00316	0.661000	0.30985	-0.522000	0.04353	TTT		0.418	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		A	234621902	T	A	234621902	3	1	15	1	0	0	0	0	1	0	0	0	16953	1493	52	5	267	5	UGT1A5	2	234621902	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	32114571	234621902	8577471	18	1046											
TRAK1	22906	hgsc.bcm.edu	37	3	42240711	42240711	+	Silent	SNP	C	C	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr3:42240711C>T	ENST00000327628.5	+	11	1556	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	TRAK1_ENST00000341421.3_Silent_p.L328L|TRAK1_ENST00000449246.1_Silent_p.L312L|TRAK1_ENST00000396175.1_Silent_p.L328L|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	386	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCGCAAGGAGCTGCAGTTGGA	0.493																																					GBM(44;195 884 22595 31865 41850)											0													119	103	109					3																	42240711		2203	4300	6503	SO:0001819	synonymous_variant	22906				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1156C>T	chr3.hg19:g.42240711C>T			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	hg19	CCDS43072.1																																																																																				0.493	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		T	42240711	C	T	42240711	2	4	15	1	0	0	0	0	0	0	0	1	16454	796	28	2		2	TRAK1	3	42240711	Silent	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10		42240711	155781719	19	1047											
SETD2	29072	hgsc.bcm.edu	37	3	47163553	47163553	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr3:47163553C>G	ENST00000409792.3	-	3	2615	c.2573G>C	c.(2572-2574)aGc>aCc	p.S858T		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	858					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGAACTAGTGCTACCGATGCT	0.353			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													61	64	63					3																	47163553		2203	4299	6502	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2573G>C	chr3.hg19:g.47163553C>G	ENSP00000386759:p.Ser858Thr		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583267	0.28268	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.88664	-2.41;1.46	5.18	5.18	0.71444	.	0.316635	0.28230	N	0.016105	T	0.79690	0.4489	N	0.14661	0.345	0.29982	N	0.81761	B;B	0.31100	0.308;0.149	B;B	0.26969	0.075;0.047	T	0.77988	-0.2380	10	0.51188	T	0.08	.	14.0566	0.64774	0.0:1.0:0.0:0.0	.	858;858	F2Z317;Q9BYW2	.;SETD2_HUMAN	T	858;858;858;814	ENSP00000386759:S858T;ENSP00000416401:S814T	ENSP00000386759:S858T	S	-	2	0	SETD2	47138557	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	0.895000	0.28363	2.679000	0.91253	0.655000	0.94253	AGC		0.353	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47163553	C	G	47163553	3	3	15	1	0	0	0	0	1	0	0	0	14137	797	28	4	5197	4	SETD2	3	47163553	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	4922842	47163553	150858877	20	1048											
WDR52	55779	hgsc.bcm.edu	37	3	113115478	113115478	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr3:113115478C>T	ENST00000295868.2	-	14	1828	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000393845.2_Missense_Mutation_p.G556R	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCTTCCGTCCCGCAAAAATC	0.393																																																0													99	101	100					3																	113115478		2203	4300	6503	SO:0001583	missense	55779																														ENST00000295868.2:c.1666G>A	chr3.hg19:g.113115478C>T	ENSP00000295868:p.Gly556Arg			Missense_Mutation	SNP	ENST00000295868.2	hg19	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796236	0.50208	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.65549	-0.16;0.57	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.53270	0.1786	L	0.44542	1.39	0.80722	D	1	P	0.47350	0.894	B	0.39935	0.314	T	0.54912	-0.8222	9	0.38643	T	0.18	.	13.4572	0.61206	0.0:0.9237:0.0:0.0763	.	556	Q96MT7	WDR52_HUMAN	R	556	ENSP00000377428:G556R;ENSP00000295868:G556R	ENSP00000295868:G556R	G	-	1	0	WDR52	114598168	1.000000	0.71417	0.981000	0.43875	0.044000	0.14063	4.867000	0.63013	2.690000	0.91761	0.655000	0.94253	GGA		0.393	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			T	113115478	C	T	113115478	3	4	15	1	0	0	0	0	1	0	0	0	17309	632	22	2	4001	2	WDR52	3	113115478	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	65951925	113115478	84906952	21	1049											
ADPRH	141	hgsc.bcm.edu	37	3	119305359	119305359	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr3:119305359G>A	ENST00000478399.1	+	3	1931	c.526G>A	c.(526-528)Gct>Act	p.A176T	ADPRH_ENST00000357003.3_Missense_Mutation_p.A176T|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Missense_Mutation_p.A176T|ADPRH_ENST00000465513.1_Missense_Mutation_p.A176T			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	176					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CCTTGCGTCTGCTCTTTTTAC	0.532																																					GBM(133;579 1804 5989 9967 40052)											0													117	121	120					3																	119305359		2203	4300	6503	SO:0001583	missense	141			L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.526G>A	chr3.hg19:g.119305359G>A	ENSP00000420200:p.Ala176Thr		B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	hg19	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673577	0.67928	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.54	5.54	0.83059	.	0.054304	0.64402	D	0.000001	T	0.69387	0.3105	M	0.92923	3.36	0.54753	D	0.999986	D	0.89917	1.0	D	0.68039	0.955	T	0.75542	-0.3281	10	0.72032	D	0.01	-25.2229	11.8438	0.52371	0.0:0.0:0.8258:0.1742	.	176	P54922	ADPRH_HUMAN	T	176	ENSP00000420200:A176T;ENSP00000417528:A176T;ENSP00000349496:A176T;ENSP00000417430:A176T	ENSP00000349496:A176T	A	+	1	0	ADPRH	120788049	1.000000	0.71417	0.967000	0.41034	0.139000	0.21198	6.774000	0.75012	2.884000	0.98904	0.655000	0.94253	GCT		0.532	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		A	119305359	G	A	119305359	3	1	15	1	0	0	0	0	1	0	0	0	331	1319	46	2	532	2	ADPRH	3	119305359	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	6189881	119305359	78717071	22	1050											
MBD4	8930	hgsc.bcm.edu	37	3	129152076	129152076	+	Missense_Mutation	SNP	G	G	T	rs376050040		TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr3:129152076G>T	ENST00000249910.1	-	6	1601	c.1426C>A	c.(1426-1428)Cct>Act	p.P476T	MBD4_ENST00000503197.1_Missense_Mutation_p.P476T|MBD4_ENST00000429544.2_Missense_Mutation_p.P470T|MBD4_ENST00000393278.2_Missense_Mutation_p.P158T|MBD4_ENST00000507208.1_Missense_Mutation_p.P476T|MBD4_ENST00000509587.1_5'Flank	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	476					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CAAAGCACAGGTATTGCCATT	0.423								Base excision repair (BER), DNA glycosylases																																								0													85	86	86					3																	129152076		2203	4300	6503	SO:0001583	missense	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1426C>A	chr3.hg19:g.129152076G>T	ENSP00000249910:p.Pro476Thr		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	hg19	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834013	0.91036	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	6.14	6.14	0.99180	HhH-GPD domain (1);DNA glycosylase (2);	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.99;1.0;0.998	D;D;D;D;D	0.77557	0.983;0.99;0.933;0.987;0.976	D	0.93945	0.7227	10	0.62326	D	0.03	-10.1723	20.4701	0.99162	0.0:0.0:1.0:0.0	.	476;158;470;476;476	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	T	470;476;476;158;476	ENSP00000394080:P470T;ENSP00000249910:P476T;ENSP00000424873:P476T;ENSP00000376959:P158T;ENSP00000422327:P476T	ENSP00000249910:P476T	P	-	1	0	MBD4	130634766	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.414000	0.80117	2.937000	0.99478	0.650000	0.86243	CCT		0.423	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		T	129152076	G	T	129152076	3	4	15	1	0	0	0	0	1	0	0	0	9348	1261	44	4	328	4	MBD4	3	129152076	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	9846717	129152076	68870354	23	1051											
NOP14	8602	hgsc.bcm.edu	37	4	2956275	2956275	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr4:2956275G>T	ENST00000314262.6	-	4	536	c.488C>A	c.(487-489)gCc>gAc	p.A163D	NOP14_ENST00000398071.4_Missense_Mutation_p.A163D|NOP14_ENST00000502735.1_Missense_Mutation_p.A163D|NOP14_ENST00000416614.2_Missense_Mutation_p.A163D|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	163					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						TCCAAAGTGGGCAGCAGTCAG	0.587																																																0													56	55	56					4																	2956275		2203	4300	6503	SO:0001583	missense	8602			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.488C>A	chr4.hg19:g.2956275G>T	ENSP00000315674:p.Ala163Asp		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	hg19	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533447	0.64972	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.04	5.04	0.67666	.	0.446649	0.26143	N	0.026084	T	0.34395	0.0896	L	0.56769	1.78	0.46149	D	0.998894	P;P	0.41080	0.737;0.601	B;B	0.37833	0.259;0.259	T	0.35450	-0.9788	10	0.87932	D	0	-7.8632	17.9807	0.89140	0.0:0.0:1.0:0.0	.	163;163	E9PFK5;P78316	.;NOP14_HUMAN	D	163;163;163;163;62	ENSP00000405068:A163D;ENSP00000315674:A163D;ENSP00000427415:A163D;ENSP00000381146:A163D	ENSP00000315674:A163D	A	-	2	0	NOP14	2926073	1.000000	0.71417	0.491000	0.27477	0.060000	0.15804	9.636000	0.98440	2.336000	0.79503	0.650000	0.86243	GCC		0.587	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		T	2956275	G	T	2956275	3	4	15	1	0	0	0	0	1	0	0	0	10538	1203	42	4	2145	4	NOP14	4	2956275	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10		2956275	188198001	24	1052											
DSPP	1834	hgsc.bcm.edu	37	4	88537513	88537513	+	Missense_Mutation	SNP	A	A	C	rs112275895		TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr4:88537513A>C	ENST00000282478.7	+	4	3732	c.3699A>C	c.(3697-3699)gaA>gaC	p.E1233D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.E1233D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1233	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcaatgaaagcagcgaca	0.547																																																0																																										SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3699A>C	chr4.hg19:g.88537513A>C	ENSP00000282478:p.Glu1233Asp		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	hg19	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.785366	0.00628	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88741	-2.42;-2.42	2.61	-5.21	0.02815	.	.	.	.	.	T	0.57213	0.2038	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57347	-0.7827	9	0.02654	T	1	.	0.7125	0.00926	0.2623:0.1881:0.1298:0.4197	.	1233	Q9NZW4	DSPP_HUMAN	D	1233	ENSP00000382213:E1233D;ENSP00000282478:E1233D	ENSP00000282478:E1233D	E	+	3	2	DSPP	88756537	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	-2.769000	0.00780	-2.252000	0.00699	-3.496000	0.00033	GAA		0.547	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		C	88537513	A	C	88537513	3	2	15	1	0	0	0	0	1	0	0	0	4784	11	1	5	3713	5	DSPP	4	88537513	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	85581238	88537513	102616763	25	1053											
TAF9	6880	hgsc.bcm.edu	37	5	68661336	68661336	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr5:68661336A>G	ENST00000328663.4	-	3	695	c.229T>C	c.(229-231)Tgc>Cgc	p.C77R	TAF9_ENST00000506736.1_Missense_Mutation_p.C77R|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.C77R|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	77					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TCAGCGCGGCACTGGATTGCC	0.413																																																0													99	97	98					5																	68661336		2203	4300	6503	SO:0001583	missense	6880			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.229T>C	chr5.hg19:g.68661336A>G	ENSP00000370193:p.Cys77Arg		D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	ENST00000328663.4	hg19	CCDS4002.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261584	0.39995	.	.	ENSG00000085231	ENST00000506736;ENST00000328663;ENST00000217893;ENST00000503245;ENST00000509462;ENST00000504109;ENST00000512152;ENST00000508954	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.69	4.53	0.55603	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	L	0.47716	1.5	0.80722	D	1	B	0.29432	0.244	B	0.41135	0.348	T	0.35724	-0.9777	10	0.38643	T	0.18	-9.3942	9.4418	0.38673	0.9167:0.0:0.0833:0.0	.	77	Q16594	TAF9_HUMAN	R	77	ENSP00000421873:C77R;ENSP00000370193:C77R;ENSP00000217893:C77R;ENSP00000425944:C77R;ENSP00000427343:C77R;ENSP00000426283:C77R;ENSP00000425798:C77R;ENSP00000427617:C77R	ENSP00000217893:C77R	C	-	1	0	TAF9	68697092	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.840000	0.75369	2.306000	0.77630	0.533000	0.62120	TGC		0.413	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		G	68661336	A	G	68661336	3	3	15	1	0	0	0	0	1	0	0	0	15540	159	6	3	979	3	TAF9	5	68661336	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10		68661336	112253924	26	1054											
PCDHB10	56126	hgsc.bcm.edu	37	5	140573697	140573697	+	Silent	SNP	G	G	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr5:140573697G>C	ENST00000239446.4	+	1	1756	c.1572G>C	c.(1570-1572)ctG>ctC	p.L524L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGAGGCCCTGCAGGCTTTCG	0.697																																																0													87	106	100					5																	140573697		2203	4298	6501	SO:0001819	synonymous_variant	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1572G>C	chr5.hg19:g.140573697G>C			Q96T99	Silent	SNP	ENST00000239446.4	hg19	CCDS4252.1																																																																																				0.697	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		C	140573697	G	C	140573697	2	2	15	1	0	0	0	0	0	0	0	1	11537	1306	46	4		4	PCDHB10	5	140573697	Silent	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	71912361	140573697	40341563	27	1055											
PCDHGA12	26025	hgsc.bcm.edu	37	5	140810981	140810981	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr5:140810981G>C	ENST00000252085.3	+	1	797	c.655G>C	c.(655-657)Gac>Cac	p.D219H	PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	219	Cadherin 2. {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(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGGGGGCGACCCGGTGCG	0.652																																																0													50	52	51					5																	140810981		2203	4300	6503	SO:0001583	missense	26025			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.655G>C	chr5.hg19:g.140810981G>C	ENSP00000252085:p.Asp219His		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	hg19	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	8.895	0.955017	0.18431	.	.	ENSG00000253159	ENST00000252085	T	0.01854	4.6	5.27	2.48	0.30137	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.07007	0.0178	M	0.75264	2.295	0.09310	N	1	B;B	0.33198	0.401;0.163	B;P	0.47573	0.339;0.55	T	0.21042	-1.0257	9	0.56958	D	0.05	.	5.9038	0.18982	0.2123:0.0:0.653:0.1347	.	219;219	O60330-2;O60330	.;PCDGC_HUMAN	H	219	ENSP00000252085:D219H	ENSP00000252085:D219H	D	+	1	0	PCDHGA12	140791165	0.003000	0.15002	0.136000	0.22124	0.024000	0.10985	1.587000	0.36622	0.802000	0.34089	0.655000	0.94253	GAC		0.652	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		C	140810981	G	C	140810981	3	2	15	1	0	0	0	0	1	0	0	0	11555	1058	37	4	657	4	PCDHGA12	5	140810981	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	237284	140810981	40104279	28	1056											
RARS2	57038	hgsc.bcm.edu	37	6	88229389	88229389	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr6:88229389C>T	ENST00000369536.5	-	14	1194	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	383					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTCGAGTCTTCATTCCCTGTA	0.403																																																0													106	99	101					6																	88229389		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1149G>A	chr6.hg19:g.88229389C>T	ENSP00000358549:p.Met383Ile		B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	hg19	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353278	0.95830	.	.	ENSG00000146282	ENST00000369536	T	0.75260	-0.92	5.97	5.97	0.96955	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.86276	0.5894	M	0.81802	2.56	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.85130	0.99;0.997	D	0.85995	0.1491	10	0.62326	D	0.03	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	383;208	Q5T160;E1P510	SYRM_HUMAN;.	I	383	ENSP00000358549:M383I	ENSP00000358549:M383I	M	-	3	0	RARS2	88286108	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.158000	0.77470	2.833000	0.97629	0.585000	0.79938	ATG		0.403	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		T	88229389	C	T	88229389	3	4	15	1	0	0	0	0	1	0	0	0	13065	826	29	2	615	2	RARS2	6	88229389	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10		88229389	82885678	29	1057											
KIAA0415	9907	hgsc.bcm.edu	37	7	4827394	4827394	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr7:4827394G>T	ENST00000348624.4	+	11	1535	c.1441G>T	c.(1441-1443)Gac>Tac	p.D481Y	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Missense_Mutation_p.D481Y	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	481					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGCGGTGCTGGACCTGCAGCT	0.697																																																0													16	20	19					7																	4827394		2014	3994	6008	SO:0001583	missense	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1441G>T	chr7.hg19:g.4827394G>T	ENSP00000297562:p.Asp481Tyr		Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	hg19	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119517	0.56505	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.45668	0.89;0.89	4.73	3.83	0.44106	.	0.125660	0.53938	D	0.000051	T	0.61098	0.2320	M	0.80982	2.52	0.53688	D	0.999978	D	0.61080	0.989	P	0.59643	0.861	T	0.67114	-0.5752	10	0.66056	D	0.02	.	13.1808	0.59653	0.0:0.0:0.8389:0.1611	.	481	O43299	K0415_HUMAN	Y	481	ENSP00000297562:D481Y;ENSP00000384980:D481Y	ENSP00000297562:D481Y	D	+	1	0	KIAA0415	4793920	1.000000	0.71417	0.993000	0.49108	0.425000	0.31504	7.524000	0.81866	1.095000	0.41419	0.549000	0.68633	GAC		0.697	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			T	4827394	G	T	4827394	3	4	15	1	0	0	0	0	1	0	0	0	8177	1174	41	4	1483	4	KIAA0415	7	4827394	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10		4827394	154311269	30	1058											
PMS2	5395	hgsc.bcm.edu	37	7	6018319	6018320	+	Frame_Shift_Del	DEL	GT	GT	-	rs141893001		TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr7:6018319_6018320delGT	ENST00000265849.7	-	13	2287_2288	c.2182_2183delAC	c.(2182-2184)actfs	p.T728fs	PMS2_ENST00000382321.4_Frame_Shift_Del_p.T327fs|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Frame_Shift_Del_p.T622fs	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	728					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TAAGTTGAGAGTCTGAGGTCTG	0.307			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0										85,4141		3,79,2031						2	1			33	1,8179		0,1,4089	no	frameshift	PMS2	NM_000535.5		3,80,6120	A1A1,A1R,RR		0.0122,2.0114,0.6932				86,12320				SO:0001589	frameshift_variant	5395	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		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2182_2183delAC	chr7.hg19:g.6018319_6018320delGT	ENSP00000265849:p.Thr728fs		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Frame_Shift_Del	DEL	ENST00000265849.7	hg19	CCDS5343.1																																																																																				0.307	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		-	6018320	GT	-	6018319	7	5	15	1	0	1	0	1	0	0	0	0	12145	1029	36	0	417	0	PMS2	7	6018319	Frame_Shift_Del	DEL	GT	TCGA-2Z-A9JL-01A-11D-A42J-10	1190925	6018319	153120344	31	1059											
WDR91	29062	hgsc.bcm.edu	37	7	134890789	134890789	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr7:134890789delT	ENST00000354475.4	-	5	647	c.616delA	c.(616-618)atcfs	p.I206fs	WDR91_ENST00000344400.5_Frame_Shift_Del_p.I206fs|WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000423565.1_Frame_Shift_Del_p.I171fs	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	206										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGTCGGTGGATTTCAGCTTGC	0.507																																																0													270	237	248					7																	134890789		2203	4300	6503	SO:0001589	frameshift_variant	29062			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.616delA	chr7.hg19:g.134890789delT	ENSP00000346466:p.Ile206fs		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Frame_Shift_Del	DEL	ENST00000354475.4	hg19	CCDS34758.1																																																																																				0.507	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		-	134890789	T	-	134890789	7	5	15	1	0	1	0	1	0	0	0	0	17343	1493	52	0	1671	0	WDR91	7	134890789	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JL-01A-11D-A42J-10	128872470	134890789	24247874	32	1060											
ZNF212	7988	hgsc.bcm.edu	37	7	148947362	148947362	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr7:148947362C>A	ENST00000335870.2	+	2	265	c.137C>A	c.(136-138)gCc>gAc	p.A46D		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			ACGGTGGTGGCCGCTATTCAG	0.567																																																0													50	52	52					7																	148947362		2203	4300	6503	SO:0001583	missense	7988			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.137C>A	chr7.hg19:g.148947362C>A	ENSP00000338572:p.Ala46Asp		B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	hg19	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660661	0.67586	.	.	ENSG00000170260	ENST00000335870	T	0.78707	-1.2	5.6	5.6	0.85130	.	0.392655	0.21983	N	0.066263	D	0.87593	0.6216	M	0.74258	2.255	0.39801	D	0.972575	D	0.89917	1.0	D	0.85130	0.997	D	0.89043	0.3450	10	0.87932	D	0	-7.1207	15.118	0.72419	0.0:1.0:0.0:0.0	.	46	Q9UDV6	ZN212_HUMAN	D	46	ENSP00000338572:A46D	ENSP00000338572:A46D	A	+	2	0	ZNF212	148578295	1.000000	0.71417	0.965000	0.40720	0.607000	0.37147	3.387000	0.52501	2.653000	0.90120	0.563000	0.77884	GCC		0.567	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		A	148947362	C	A	148947362	3	1	15	1	0	0	0	0	1	0	0	0	17773	739	26	4	143	4	ZNF212	7	148947362	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	14056573	148947362	10191301	33	1061											
CSMD3	114788	hgsc.bcm.edu	37	8	113303751	113303751	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr8:113303751G>T	ENST00000297405.5	-	56	9206	c.8962C>A	c.(8962-8964)Cca>Aca	p.P2988T	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2948T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2819T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2918T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2988	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACATTCTGGTAAAGGTTTG	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													84	77	79					8																	113303751		2202	4299	6501	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8962C>A	chr8.hg19:g.113303751G>T	ENSP00000297405:p.Pro2988Thr		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633524	0.87660	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.95427	0.8515	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.984	D;D;P	0.97110	0.996;1.0;0.839	D	0.95785	0.8820	10	0.72032	D	0.01	.	19.9351	0.97137	0.0:0.0:1.0:0.0	.	2819;2988;2948	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	2948;2988;2258;2819;2918	ENSP00000345799:P2948T;ENSP00000297405:P2988T;ENSP00000341558:P2258T;ENSP00000412263:P2819T;ENSP00000343124:P2918T	ENSP00000297405:P2988T	P	-	1	0	CSMD3	113372927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.030000	0.88816	2.703000	0.92315	0.655000	0.94253	CCA		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113303751	G	T	113303751	3	4	15	1	0	0	0	0	1	0	0	0	3948	1261	44	4	2225	4	CSMD3	8	113303751	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10		113303751	33060271	34	1062											
FLJ46321	389763	hgsc.bcm.edu	37	9	84606600	84606600	+	Silent	SNP	A	A	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr9:84606600A>T	ENST00000344803.2	+	4	1262	c.1215A>T	c.(1213-1215)tcA>tcT	p.S405S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	405					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTAACATCTCATTTCTCAGCC	0.458																																																0													95	82	86					9																	84606600		1852	4102	5954	SO:0001819	synonymous_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1215A>T	chr9.hg19:g.84606600A>T				Silent	SNP	ENST00000344803.2	hg19	CCDS47986.1																																																																																				0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84606600	A	T	84606600	2	4	15	1	0	0	0	0	0	0	0	1	5934	204	8	5		5	FLJ46321	9	84606600	Silent	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10		84606600	56606831	35	1063											
C9orf84	158401	hgsc.bcm.edu	37	9	114538143	114538143	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr9:114538143T>C	ENST00000318737.4	-	3	306	c.178A>G	c.(178-180)Atg>Gtg	p.M60V	C9orf84_ENST00000374287.3_Missense_Mutation_p.M60V|C9orf84_ENST00000374283.5_Missense_Mutation_p.M124V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	60										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGTAGTCCATGTGGGTGTAT	0.363																																																0													104	101	102					9																	114538143		2203	4300	6503	SO:0001583	missense	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.178A>G	chr9.hg19:g.114538143T>C	ENSP00000322108:p.Met60Val		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	hg19	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	T	9.217	1.032346	0.19590	.	.	ENSG00000165181	ENST00000374287;ENST00000318737;ENST00000374283	T;T;T	0.42513	3.69;3.69;0.97	4.97	-1.86	0.07760	.	1.063880	0.07355	N	0.883056	T	0.20861	0.0502	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.006;0.015	B;B	0.15870	0.001;0.014	T	0.21314	-1.0249	10	0.49607	T	0.09	0.116	5.3357	0.15957	0.0:0.4239:0.1725:0.4037	.	124;60	Q5VXU9-2;Q5VXU9	.;CI084_HUMAN	V	60;60;124	ENSP00000363405:M60V;ENSP00000322108:M60V;ENSP00000363401:M124V	ENSP00000322108:M60V	M	-	1	0	C9orf84	113577964	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.000000	0.12993	-0.496000	0.06650	0.477000	0.44152	ATG		0.363	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		C	114538143	T	C	114538143	3	2	15	1	0	0	0	0	1	0	0	0	2502	1464	51	3	4389	3	C9orf84	9	114538143	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	29931543	114538143	26675288	36	1064											
RGS3	5998	hgsc.bcm.edu	37	9	116345868	116345868	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr9:116345868A>G	ENST00000374140.2	+	21	2385	c.2176A>G	c.(2176-2178)Aag>Gag	p.K726E	RGS3_ENST00000350696.5_Missense_Mutation_p.K726E|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.K445E|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.K47E|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Missense_Mutation_p.K47E	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	726	Pro-rich.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACCCAACAAGGACTCCCC	0.622																																																0													93	89	90					9																	116345868		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2176A>G	chr9.hg19:g.116345868A>G	ENSP00000363255:p.Lys726Glu		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	hg19	CCDS43869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.42|12.42	1.932043|1.932043	0.34096|0.34096	.|.	.|.	ENSG00000138835|ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000471324;ENST00000467805|ENST00000496113	T;T;T;T;T;T|.	0.78481|.	0.91;0.91;0.41;0.28;0.28;-1.18|.	4.82|4.82	-3.87|-3.87	0.04218|0.04218	.|.	0.808466|.	0.10976|.	N|.	0.613237|.	T|T	0.39279|0.39279	0.1072|0.1072	L|L	0.27053|0.27053	0.805|0.805	0.37119|0.37119	D|D	0.900721|0.900721	B;B;B;B;B;B|.	0.20052|.	0.041;0.001;0.01;0.001;0.001;0.001|.	B;B;B;B;B;B|.	0.14578|.	0.011;0.004;0.006;0.003;0.002;0.002|.	T|T	0.39461|0.39461	-0.9613|-0.9613	10|5	0.44086|.	T|.	0.13|.	.|.	9.8023|9.8023	0.40773|0.40773	0.33:0.5866:0.0834:0.0|0.33:0.5866:0.0834:0.0	.|.	65;622;47;445;616;726|.	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796|.	.;.;.;.;.;RGS3_HUMAN|.	E|R	726;726;445;47;47;47;47;47|180	ENSP00000363255:K726E;ENSP00000259406:K726E;ENSP00000340284:K445E;ENSP00000420356:K47E;ENSP00000363249:K47E;ENSP00000417994:K47E|.	ENSP00000340284:K445E|.	K|Q	+|+	1|2	0|0	RGS3|RGS3	115385689|115385689	0.003000|0.003000	0.15002|0.15002	0.030000|0.030000	0.17652|0.17652	0.251000|0.251000	0.25915|0.25915	-0.237000|-0.237000	0.08990|0.08990	-0.347000|-0.347000	0.08299|0.08299	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		G	116345868	A	G	116345868	3	3	15	1	0	0	0	0	1	0	0	0	13312	131	5	3	2507	3	RGS3	9	116345868	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	1807725	116345868	24867563	37	1065											
RXRA	6256	hgsc.bcm.edu	37	9	137323760	137323760	+	Silent	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr9:137323760G>T	ENST00000481739.1	+	8	1105	c.1053G>T	c.(1051-1053)acG>acT	p.T351T	RXRA_ENST00000540193.1_Silent_p.T254T|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	351	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GGGTGCTGACGGAGCTTGTGT	0.627																																																0													120	93	102					9																	137323760		2203	4300	6503	SO:0001819	synonymous_variant	6256			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1053G>T	chr9.hg19:g.137323760G>T			B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	hg19	CCDS35172.1																																																																																				0.627	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		T	137323760	G	T	137323760	2	4	15	1	0	0	0	0	0	0	0	1	13769	1103	39	4		4	RXRA	9	137323760	Silent	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	20977892	137323760	3889671	38	1066											
FRMPD2	143162	hgsc.bcm.edu	37	10	49380990	49380999	+	Splice_Site	DEL	ATCTGTCACT	ATCTGTCACT	-	rs367862519|rs138229835	byFrequency	TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	ATCTGTCACT	ATCTGTCACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr10:49380990_49380999delATCTGTCACT	ENST00000374201.3	-	25	3515_3524	c.3213_3222delAGTGACAGAT	c.(3211-3222)tcagtgacagat>tc	p.SVTD1071fs	FRMPD2_ENST00000305531.3_Splice_Site_p.SVTD1046fs|FRMPD2_ENST00000474573.1_Splice_Site_p.SVTD23fs|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000407470.4_Splice_Site_p.SVTD1039fs	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1071					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCCTCTCACCATCTGTCACTGAGACACAGC	0.5																																																0																																										SO:0001630	splice_region_variant	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3223+1AGTGACAGAT>-	chr10.hg19:g.49380990_49380999delATCTGTCACT			B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Frame_Shift_Del	DEL	ENST00000374201.3	hg19	CCDS31195.1																																																																																				0.5	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	Frame_Shift_Del	-	49380999	ATCTGTCACT	-	49380990	8	5	15	1	0	1	0	1	0	0	1	0	6060	231	8	0	727	0	FRMPD2	10	49380990	Splice_Site	DEL	ATCTGTCACT	TCGA-2Z-A9JL-01A-11D-A42J-10		49380990	86153757	39	1067											
C10orf57	80195	hgsc.bcm.edu	37	10	81850575	81850575	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr10:81850575C>T	ENST00000372281.3	+	4	304	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	TMEM254_ENST00000372274.1_3'UTR|TMEM254_ENST00000372275.1_3'UTR|TMEM254_ENST00000467529.1_3'UTR	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	92						integral component of membrane (GO:0016021)		p.R92W(1)									CACAAGTGGTCGGGCTCAGCT	0.383																																																1	Substitution - Missense(1)	endometrium(1)											148	136	140					10																	81850575		2203	4300	6503	SO:0001583	missense	80195			BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 57"	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.274C>T	chr10.hg19:g.81850575C>T	ENSP00000361355:p.Arg92Trp		D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Missense_Mutation	SNP	ENST00000372281.3	hg19	CCDS7363.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.293|7.293	0.611430|0.611430	0.14066|0.14066	.|.	.|.	ENSG00000133678|ENSG00000133678	ENST00000372281|ENST00000450179	.|.	.|.	.|.	4.22|4.22	2.3|2.3	0.28687|0.28687	.|.	1.156350|.	0.06000|.	N|.	0.647577|.	T|T	0.31888|0.31888	0.0811|0.0811	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	B;B|.	0.18741|.	0.025;0.03|.	B;B|.	0.12156|.	0.007;0.003|.	T|T	0.20840|0.20840	-1.0263|-1.0263	9|5	0.42905|.	T|.	0.14|.	-11.936|-11.936	6.4042|6.4042	0.21656|0.21656	0.0:0.7479:0.0:0.2521|0.0:0.7479:0.0:0.2521	.|.	116;92|.	E7ERB9;Q8TBM7|.	.;CJ057_HUMAN|.	W|L	92|69	.|.	ENSP00000361355:R92W|.	R|S	+|+	1|2	2|0	C10orf57|C10orf57	81840555|81840555	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.557000|0.557000	0.35523|0.35523	-0.093000|-0.093000	0.11111|0.11111	0.473000|0.473000	0.27368|0.27368	0.557000|0.557000	0.71058|0.71058	CGG|TCG		0.383	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049030.1	NM_025125		T	81850575	C	T	81850575	3	4	15	1	0	0	0	0	1	0	0	0	1611	875	31	1	288	1	C10orf57	10	81850575	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	32469585	81850575	53684172	40	1068											
SLC25A28	81894	hgsc.bcm.edu	37	10	101379882	101379882	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr10:101379882T>A	ENST00000370495.4	-	1	239	c.211A>T	c.(211-213)Act>Tct	p.T71S	RP11-85A1.3_ENST00000566847.1_RNA|SLC25A28_ENST00000496035.1_Intron	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	71					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GTGGTGACAGTGGCTCCAGCC	0.721																																																0													10	13	12					10																	101379882		1896	3945	5841	SO:0001583	missense	81894			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"Solute carriers"	23472	protein-coding gene	gene with protein product	"mitoferrin 2"	609767	"solute carrier family 25, member 28"			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.211A>T	chr10.hg19:g.101379882T>A	ENSP00000359526:p.Thr71Ser		Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	hg19	CCDS41559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	5.859|5.859	0.342667|0.342667	0.11069|0.11069	.|.	.|.	ENSG00000155287|ENSG00000155287	ENST00000434701|ENST00000370495	T|T	0.78481|0.78003	-1.18|-1.14	4.49|4.49	4.49|4.49	0.54785|0.54785	.|Mitochondrial carrier domain (1);	.|0.078181	.|0.51477	.|D	.|0.000096	T|T	0.45756|0.45756	0.1358|0.1358	N|N	0.01686|0.01686	-0.76|-0.76	0.31508|0.31508	N|N	0.663909|0.663909	.|B	.|0.06786	.|0.001	.|B	.|0.12156	.|0.007	T|T	0.48422|0.48422	-0.9037|-0.9037	7|10	0.33141|0.02654	T|T	0.24|1	-51.6351|-51.6351	8.2084|8.2084	0.31469|0.31469	0.0:0.0953:0.0:0.9047|0.0:0.0953:0.0:0.9047	.|.	.|71	.|Q96A46	.|MFRN2_HUMAN	L|S	8|71	ENSP00000399102:H8L|ENSP00000359526:T71S	ENSP00000399102:H8L|ENSP00000359526:T71S	H|T	-|-	2|1	0|0	SLC25A28|SLC25A28	101369872|101369872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.051000|2.051000	0.41307|0.41307	1.873000|1.873000	0.54277|0.54277	0.375000|0.375000	0.23000|0.23000	CAC|ACT		0.721	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		A	101379882	T	A	101379882	3	1	15	1	0	0	0	0	1	0	0	0	14497	1696	59	5	899	5	SLC25A28	10	101379882	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	19529307	101379882	34154865	41	1069											
SEC31B	25956	hgsc.bcm.edu	37	10	102265129	102265129	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr10:102265129C>A	ENST00000370345.3	-	10	1265	c.1168G>T	c.(1168-1170)Gtt>Ttt	p.V390F	SEC31B_ENST00000451524.1_Missense_Mutation_p.V390F	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	390					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GCAAATGAAACACCTGTTGGT	0.502																																																0													208	208	208					10																	102265129		2203	4300	6503	SO:0001583	missense	25956			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1168G>T	chr10.hg19:g.102265129C>A	ENSP00000359370:p.Val390Phe		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	hg19	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509524	0.85282	.	.	ENSG00000075826	ENST00000370345;ENST00000451524	T;T	0.60797	0.44;0.16	5.82	4.91	0.64330	.	0.291232	0.38111	N	0.001804	T	0.76543	0.4002	M	0.83953	2.67	0.80722	D	1	D;D	0.58268	0.982;0.969	D;P	0.64506	0.926;0.845	T	0.81072	-0.1098	10	0.87932	D	0	-3.3194	15.336	0.74255	0.1408:0.8592:0.0:0.0	.	389;390	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	F	390	ENSP00000359370:V390F;ENSP00000391178:V390F	ENSP00000359370:V390F	V	-	1	0	SEC31B	102255119	0.997000	0.39634	0.933000	0.37362	0.852000	0.48524	3.525000	0.53502	1.448000	0.47680	0.561000	0.74099	GTT		0.502	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		A	102265129	C	A	102265129	3	1	15	1	0	0	0	0	1	0	0	0	14005	478	17	4	2439	4	SEC31B	10	102265129	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	885247	102265129	33269618	42	1070											
INPP5F	22876	hgsc.bcm.edu	37	10	121567442	121567445	+	Splice_Site	DEL	TAGC	TAGC	-			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	TAGC	TAGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr10:121567442_121567445delTAGC	ENST00000361976.2	+	13	1606_1608	c.1440_1442delTAGC	c.(1438-1443)catagc>cac	p.S481fs		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	792	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGTTCATTTTAGCTGAAAAAATTA	0.387																																																0																																										SO:0001630	splice_region_variant	22876			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1441-1TAGC>-	chr10.hg19:g.121567442_121567445delTAGC			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	DEL	ENST00000361976.2	hg19	CCDS7616.1																																																																																				0.387	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	Frame_Shift_Del	-	121567445	TAGC	-	121567442	8	5	15	1	0	1	0	1	0	0	1	0	7760	434	15	0	1489	0	INPP5F	10	121567442	Splice_Site	DEL	TAGC	TCGA-2Z-A9JL-01A-11D-A42J-10	19302313	121567442	13967305	43	1071											
AP2A2	161	hgsc.bcm.edu	37	11	993296	993296	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr11:993296C>T	ENST00000448903.2	+	12	1606	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.P490S	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	489					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCTTCAGGCTCCCGCGTGCCA	0.622																																																0													35	41	39					11																	993296		1981	4155	6136	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1465C>T	chr11.hg19:g.993296C>T	ENSP00000413234:p.Pro489Ser		O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	hg19	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257403	0.39896	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.37915	1.17;1.17	3.66	3.66	0.41972	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	L	0.48877	1.53	0.80722	D	1	D;P;P	0.69078	0.997;0.787;0.882	D;P;P	0.77557	0.99;0.469;0.604	T	0.49224	-0.8962	10	0.33141	T	0.24	-10.2646	16.226	0.82293	0.0:1.0:0.0:0.0	.	228;490;489	B7Z1Q4;O94973-2;O94973	.;.;AP2A2_HUMAN	S	489;490;490;226;229	ENSP00000413234:P489S;ENSP00000327694:P490S	ENSP00000327694:P490S	P	+	1	0	AP2A2	983296	1.000000	0.71417	0.248000	0.24265	0.485000	0.33311	4.879000	0.63100	1.979000	0.57680	0.462000	0.41574	CCC		0.622	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		T	993296	C	T	993296	3	4	15	1	0	0	0	0	1	0	0	0	740	855	30	2	1511	2	AP2A2	11	993296	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10		993296	134013220	44	1072											
PPFIBP2	8495	hgsc.bcm.edu	37	11	7660962	7660962	+	Splice_Site	SNP	G	G	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr11:7660962G>A	ENST00000299492.4	+	15	1624		c.e15-1		PPFIBP2_ENST00000533792.1_Splice_Site|PPFIBP2_ENST00000530181.1_Splice_Site|PPFIBP2_ENST00000528883.1_Splice_Site|PPFIBP2_ENST00000530582.1_Splice_Site	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTTCCAATAGGACAGCCCTT	0.493																																																0													182	189	186					11																	7660962		2201	4296	6497	SO:0001630	splice_region_variant	8495			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1237-1G>A	chr11.hg19:g.7660962G>A			B7Z433|E9PK77|O75337|Q8WW26	Splice_Site	SNP	ENST00000299492.4	hg19	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631854	0.29068	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181;ENST00000534409;ENST00000530081	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5173	0.75833	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPFIBP2	7617538	1.000000	0.71417	0.995000	0.50966	0.317000	0.28152	6.002000	0.70693	2.731000	0.93534	0.557000	0.71058	.		0.493	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621	Intron	A	7660962	G	A	7660962	5	1	15	1	0	0	0	0	0	0	1	0	12316	1014	35	2	1290	2	PPFIBP2	11	7660962	Splice_Site	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	6667666	7660962	127345554	45	1073											
NAV2	89797	hgsc.bcm.edu	37	11	19854129	19854129	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr11:19854129C>G	ENST00000396087.3	+	2	466	c.367C>G	c.(367-369)Cag>Gag	p.Q123E	NAV2_ENST00000527559.2_Missense_Mutation_p.Q52E|NAV2_ENST00000349880.4_Missense_Mutation_p.Q123E|NAV2_ENST00000360655.4_Missense_Mutation_p.Q59E|NAV2_ENST00000540292.1_Missense_Mutation_p.Q54E|NAV2_ENST00000396085.1_Missense_Mutation_p.Q123E|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	123	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTCCTGGCCCAGATTATCCA	0.527																																																0													195	201	199					11																	19854129		2199	4293	6492	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.367C>G	chr11.hg19:g.19854129C>G	ENSP00000379396:p.Gln123Glu		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	hg19	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	5.035	0.192111	0.09599	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	5.83	4.9	0.64082	.	0.100385	0.42964	D	0.000629	T	0.31734	0.0806	N	0.03903	-0.33	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17868	-1.0355	9	.	.	.	.	13.0026	0.58685	0.0:0.6311:0.3689:0.0	.	123;59	Q8IVL1-3;Q8IVL1-4	.;.	E	59;123;123;123;52;54	ENSP00000353871:Q59E;ENSP00000379394:Q123E;ENSP00000309577:Q123E;ENSP00000379396:Q123E;ENSP00000435395:Q52E;ENSP00000443489:Q54E	.	Q	+	1	0	NAV2	19810705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.992000	0.56980	2.763000	0.94921	0.561000	0.74099	CAG		0.527	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		G	19854129	C	G	19854129	3	3	15	1	0	0	0	0	1	0	0	0	10186	595	21	4	452	4	NAV2	11	19854129	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	12193167	19854129	115152387	46	1074											
GPHA2	170589	hgsc.bcm.edu	37	11	64702479	64702479	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr11:64702479A>G	ENST00000279168.2	-	3	326	c.272T>C	c.(271-273)aTc>aCc	p.I91T	GPHA2_ENST00000533257.1_Missense_Mutation_p.I91T|GPHA2_ENST00000532246.1_Missense_Mutation_p.I91T	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	91						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|prostate(1)	3						CAGGCCACTGATGGTGCAGCA	0.617																																																0													118	119	119					11																	64702479		2201	4297	6498	SO:0001583	missense	170589			AF260739	CCDS8086.1	11q13.1	2008-07-18				ENSG00000149735			18054	protein-coding gene	gene with protein product	"glycoprotein alpha 2", "cysteine knot protein"	609651				11809971	Standard	NM_130769		Approved	GPA2, ZSIG51, A2, MGC126572	uc001oca.3	Q96T91		ENST00000279168.2:c.272T>C	chr11.hg19:g.64702479A>G	ENSP00000279168:p.Ile91Thr		Q52LE2	Missense_Mutation	SNP	ENST00000279168.2	hg19	CCDS8086.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178283	0.78564	.	.	ENSG00000149735	ENST00000279168;ENST00000533257;ENST00000532246	T;T	0.28666	1.6;1.6	4.27	4.27	0.50696	Cystine knot, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.55545	0.1927	M	0.80616	2.505	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.61633	-0.7023	10	0.87932	D	0	.	11.7091	0.51614	1.0:0.0:0.0:0.0	.	91	Q96T91	GPHA2_HUMAN	T	91	ENSP00000279168:I91T;ENSP00000432918:I91T	ENSP00000279168:I91T	I	-	2	0	GPHA2	64459055	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	8.005000	0.88553	1.937000	0.56155	0.533000	0.62120	ATC		0.617	GPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385470.1	NM_130769		G	64702479	A	G	64702479	3	3	15	1	0	0	0	0	1	0	0	0	6610	333	12	3	125	3	GPHA2	11	64702479	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	44848350	64702479	70304037	47	1075											
NPAS4	266743	hgsc.bcm.edu	37	11	66190646	66190646	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr11:66190646T>G	ENST00000311034.2	+	5	927	c.751T>G	c.(751-753)Tat>Gat	p.Y251D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	251	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TAAATCATGGTATGGACTGCT	0.537																																																0													122	93	103					11																	66190646		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.751T>G	chr11.hg19:g.66190646T>G	ENSP00000311196:p.Tyr251Asp		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	hg19	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572924	0.86542	.	.	ENSG00000174576	ENST00000311034	T	0.19394	2.15	5.65	5.65	0.86999	PAS fold-3 (1);PAS (2);	0.000000	0.49916	D	0.000132	T	0.51890	0.1701	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60047	-0.7339	10	0.87932	D	0	-6.2055	13.8382	0.63421	0.0:0.0:0.0:1.0	.	251	Q8IUM7	NPAS4_HUMAN	D	251	ENSP00000311196:Y251D	ENSP00000311196:Y251D	Y	+	1	0	NPAS4	65947222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.350000	0.79385	2.150000	0.67090	0.528000	0.53228	TAT		0.537	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		G	66190646	T	G	66190646	3	3	15	1	0	0	0	0	1	0	0	0	10567	1638	57	5	769	5	NPAS4	11	66190646	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	1488167	66190646	68815870	48	1076											
CARNS1	57571	hgsc.bcm.edu	37	11	67186483	67186483	+	Silent	SNP	C	C	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr11:67186483C>G	ENST00000307823.3	+	4	704	c.252C>G	c.(250-252)gcC>gcG	p.A84A	CARNS1_ENST00000445895.2_Silent_p.A207A|CARNS1_ENST00000531040.1_Silent_p.A207A|CARNS1_ENST00000423745.2_Silent_p.A84A	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	84					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CTGAGCTGGCCCGGCTGCTGG	0.692																																																0													5	8	7					11																	67186483		2021	4137	6158	SO:0001819	synonymous_variant	57571				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.252C>G	chr11.hg19:g.67186483C>G			A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Silent	SNP	ENST00000307823.3	hg19	CCDS44658.1																																																																																				0.692	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		G	67186483	C	G	67186483	2	3	15	1	0	0	0	0	0	0	0	1	2658	610	22	4		4	CARNS1	11	67186483	Silent	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	995837	67186483	67820033	49	1077											
POU2AF1	5450	hgsc.bcm.edu	37	11	111229622	111229622	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr11:111229622G>A	ENST00000393067.3	-	2	552	c.38C>T	c.(37-39)cCa>cTa	p.P13L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	13					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGCCGGGGCTGGGGCTTGCTC	0.632			T	BCL6	NHL																																		Dom	yes		11	11q23.1	5450	"POU domain, class 2, associating factor 1 (OBF1)"		L	0													48	49	49					11																	111229622		2201	4297	6498	SO:0001583	missense	5450				CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.38C>T	chr11.hg19:g.111229622G>A	ENSP00000376786:p.Pro13Leu		B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	hg19	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165888	0.78339	.	.	ENSG00000110777	ENST00000393067;ENST00000531398	T;T	0.32753	1.44;1.44	5.0	5.0	0.66597	.	0.238634	0.35936	N	0.002889	T	0.33990	0.0882	L	0.45581	1.43	0.49389	D	0.999781	P	0.48089	0.905	P	0.47941	0.562	T	0.03761	-1.1006	10	0.15499	T	0.54	-1.2837	16.0815	0.81007	0.0:0.0:1.0:0.0	.	13	Q16633	OBF1_HUMAN	L	13;15	ENSP00000376786:P13L;ENSP00000433527:P15L	ENSP00000376786:P13L	P	-	2	0	POU2AF1	110734832	0.999000	0.42202	0.973000	0.42090	0.656000	0.38851	3.990000	0.56965	2.331000	0.79229	0.305000	0.20034	CCA		0.632	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		A	111229622	G	A	111229622	3	1	15	1	0	0	0	0	1	0	0	0	12272	1348	47	2	748	2	POU2AF1	11	111229622	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	44043139	111229622	23776894	50	1078											
PFKM	5213	hgsc.bcm.edu	37	12	48536588	48536588	+	Silent	SNP	A	A	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr12:48536588A>T	ENST00000312352.7	+	18	1716	c.1677A>T	c.(1675-1677)tcA>tcT	p.S559S	PFKM_ENST00000551804.1_Silent_p.S528S|PFKM_ENST00000547587.1_Silent_p.S559S|PFKM_ENST00000359794.5_Silent_p.S559S|PFKM_ENST00000340802.6_Silent_p.S630S|PFKM_ENST00000395233.2_Silent_p.S528S	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	559	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCAAGCAGTCAGCAGCTGGCA	0.512																																																0													137	122	127					12																	48536588		2203	4300	6503	SO:0001819	synonymous_variant	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1677A>T	chr12.hg19:g.48536588A>T			J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	hg19	CCDS8760.1																																																																																				0.512	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		T	48536588	A	T	48536588	2	4	15	1	0	0	0	0	0	0	0	1	11767	175	7	5		5	PFKM	12	48536588	Silent	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10		48536588	85315307	51	1079											
KRT80	144501	hgsc.bcm.edu	37	12	52565443	52565443	+	Splice_Site	SNP	G	G	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr12:52565443G>A	ENST00000394815.2	-	8	1330	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	KRT80_ENST00000313234.5_Splice_Site_p.T411T	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	411	Tail.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		AGGACTCACCGGTTTTGCACC	0.602																																					GBM(178;2309 2916 15678 35873)											0													55	43	47					12																	52565443		2200	4298	6498	SO:0001630	splice_region_variant	144501			BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1234+1C>T	chr12.hg19:g.52565443G>A			Q6P1A5|Q7Z3Q0	Silent	SNP	ENST00000394815.2	hg19	CCDS8821.2																																																																																				0.602	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507	Silent	A	52565443	G	A	52565443	5	1	15	1	0	0	0	0	0	0	1	0	8496	1130	39	1	168	1	KRT80	12	52565443	Splice_Site	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	4028855	52565443	81286452	52	1080											
MYO1A	4640	hgsc.bcm.edu	37	12	57431392	57431392	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr12:57431392G>T	ENST00000442789.2	-	20	2282	c.1995C>A	c.(1993-1995)agC>agA	p.S665R	MYO1A_ENST00000544473.1_Missense_Mutation_p.S503R|MYO1A_ENST00000300119.3_Missense_Mutation_p.S665R|MYO1A_ENST00000476795.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	665	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCGAGGACATGCTCAGCTCCC	0.512																																																0													227	233	231					12																	57431392		2203	4300	6503	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1995C>A	chr12.hg19:g.57431392G>T	ENSP00000393392:p.Ser665Arg		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	hg19	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	8.653	0.898793	0.17686	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.87412	-2.25;-2.25;-2.25	4.96	0.968	0.19680	Myosin head, motor domain (2);	0.445812	0.26654	N	0.023187	T	0.71728	0.3374	N	0.12182	0.205	0.09310	N	1	B	0.24043	0.096	B	0.28465	0.09	T	0.57923	-0.7727	10	0.23891	T	0.37	.	6.547	0.22412	0.4246:0.0:0.5754:0.0	.	665	Q9UBC5	MYO1A_HUMAN	R	665;665;503	ENSP00000300119:S665R;ENSP00000393392:S665R;ENSP00000440514:S503R	ENSP00000300119:S665R	S	-	3	2	MYO1A	55717659	0.000000	0.05858	0.009000	0.14445	0.955000	0.61496	0.230000	0.17852	0.143000	0.18926	0.591000	0.81541	AGC		0.512	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		T	57431392	G	T	57431392	3	4	15	1	0	0	0	0	1	0	0	0	10070	1310	46	4	1176	4	MYO1A	12	57431392	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	4865949	57431392	76420503	53	1081											
PTPRB	5787	hgsc.bcm.edu	37	12	71016216	71016216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr12:71016216G>T	ENST00000550358.1	-	3	687	c.662C>A	c.(661-663)tCa>tAa	p.S221*	PTPRB_ENST00000334414.6_Nonsense_Mutation_p.S221*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.S220*|PTPRB_ENST00000538174.2_5'UTR			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAAAACCCATGATGTGTCTGT	0.512																																																0													172	184	180					12																	71016216		2051	4200	6251	SO:0001587	stop_gained	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.662C>A	chr12.hg19:g.71016216G>T	ENSP00000448058:p.Ser221*		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP	ENST00000550358.1	hg19		.	.	.	.	.	.	.	.	.	.	G	37	6.457421	0.97581	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525;ENST00000548122	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6503	0.88162	0.0:0.0:1.0:0.0	.	.	.	.	X	221;221;221;220;100	.	ENSP00000334928:S221X	S	-	2	0	PTPRB	69302483	0.599000	0.26891	0.070000	0.20053	0.532000	0.34746	3.878000	0.56130	2.686000	0.91538	0.650000	0.86243	TCA		0.512	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1			T	71016216	G	T	71016216	4	4	15	1	0	0	0	0	0	1	0	0	12802	1294	45	4	6171	4	PTPRB	12	71016216	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	13584824	71016216	62835679	54	1082											
NAA25	80018	hgsc.bcm.edu	37	12	112478370	112478370	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr12:112478370T>A	ENST00000261745.4	-	21	2701	c.2453A>T	c.(2452-2454)aAa>aTa	p.K818I	MIR3657_ENST00000584818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	818						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						ACCTTTACATTTACTGAAGAC	0.284																																																0													66	65	65					12																	112478370		2201	4295	6496	SO:0001583	missense	80018			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.2453A>T	chr12.hg19:g.112478370T>A	ENSP00000261745:p.Lys818Ile		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	hg19	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633358	0.47049	.	.	ENSG00000111300	ENST00000261745;ENST00000550701	T	0.26957	1.7	5.53	0.105	0.14535	.	0.665279	0.15928	N	0.237786	T	0.13713	0.0332	L	0.27053	0.805	0.28371	N	0.920017	B;B	0.20671	0.047;0.047	B;B	0.15052	0.012;0.012	T	0.14587	-1.0467	10	0.59425	D	0.04	-2.7143	2.7285	0.05220	0.1164:0.1349:0.128:0.6207	.	818;818	A8K8X0;Q14CX7	.;NAA25_HUMAN	I	818;24	ENSP00000261745:K818I	ENSP00000261745:K818I	K	-	2	0	NAA25	110962753	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	1.657000	0.37366	0.061000	0.16311	0.533000	0.62120	AAA		0.284	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		A	112478370	T	A	112478370	3	1	15	1	0	0	0	0	1	0	0	0	10123	1841	64	5	481	5	NAA25	12	112478370	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	41462154	112478370	21373525	55	1083											
NAA25	80018	hgsc.bcm.edu	37	12	112499043	112499043	+	Silent	SNP	A	A	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr12:112499043A>G	ENST00000261745.4	-	12	1547	c.1299T>C	c.(1297-1299)aaT>aaC	p.N433N	RP1-267L14.3_ENST00000551125.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	433						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						TCAATTTCTGATTTTTATCCA	0.453																																																0													121	99	106					12																	112499043		2203	4300	6503	SO:0001819	synonymous_variant	80018			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.1299T>C	chr12.hg19:g.112499043A>G			A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	hg19	CCDS9159.1																																																																																				0.453	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		G	112499043	A	G	112499043	2	3	15	1	0	0	0	0	0	0	0	1	10123	330	12	3		3	NAA25	12	112499043	Silent	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	20673	112499043	21352852	56	1084											
EP400	57634	hgsc.bcm.edu	37	12	132547068	132547068	+	Missense_Mutation	SNP	G	G	A	rs68030464|rs367737531|rs60930033		TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr12:132547068G>A	ENST00000333577.4	+	48	8373	c.8264G>A	c.(8263-8265)aGg>aAg	p.R2755K	EP400_ENST00000332482.4_Missense_Mutation_p.R2682K|EP400_ENST00000389561.2_Missense_Mutation_p.R2719K|EP400_ENST00000389562.2_Missense_Mutation_p.R2718K|EP400_ENST00000330386.6_Missense_Mutation_p.R2638K			Q96L91	EP400_HUMAN	E1A binding protein p400	2755	Interaction with ZNF42. {ECO:0000250}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R2718K(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGCTTCTCAGgcagcagcag	0.567																																																2	Substitution - Missense(2)	lung(2)											48	48	48					12																	132547068		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8264G>A	chr12.hg19:g.132547068G>A	ENSP00000333602:p.Arg2755Lys		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	hg19		.	.	.	.	.	.	.	.	.	.	G	15.46	2.840128	0.51057	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	4.89	4.89	0.63831	.	0.266539	0.31542	N	0.007465	D	0.91264	0.7246	L	0.27053	0.805	0.26223	N	0.97913	D;D;D	0.53312	0.959;0.959;0.959	D;D;D	0.65684	0.937;0.937;0.937	D	0.84986	0.0891	10	0.29301	T	0.29	.	17.0403	0.86487	0.0:0.0:1.0:0.0	.	2719;2638;2718	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	K	2755;2719;2718;2682;2638;2719	ENSP00000333602:R2755K;ENSP00000374212:R2719K;ENSP00000374213:R2718K;ENSP00000331737:R2682K;ENSP00000330620:R2638K	ENSP00000330620:R2638K	R	+	2	0	EP400	131113021	1.000000	0.71417	0.878000	0.34440	0.286000	0.27126	5.957000	0.70323	2.236000	0.73375	0.561000	0.74099	AGG		0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547068	G	A	132547068	3	1	15	1	0	0	0	0	1	0	0	0	5151	1000	35	2	8335	2	EP400	12	132547068	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	20048025	132547068	1304827	57	1085											
C13orf33	84935	hgsc.bcm.edu	37	13	31495803	31495803	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr13:31495803G>T	ENST00000380482.4	+	4	932	c.607G>T	c.(607-609)Gat>Tat	p.D203Y	TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000593246.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	203					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											TGCATTATTTGATTTCTTCTA	0.348																																																0													88	90	89					13																	31495803		2203	4300	6503	SO:0001583	missense	84935			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.607G>T	chr13.hg19:g.31495803G>T	ENSP00000369849:p.Asp203Tyr		Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	ENST00000380482.4	hg19	CCDS9338.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427018	0.62733	.	.	ENSG00000102802	ENST00000380482	T	0.60548	0.18	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.32530	0.975	0.43039	D	0.994626	D	0.89917	1.0	D	0.87578	0.998	T	0.70930	-0.4738	10	0.87932	D	0	-23.8071	15.9427	0.79771	0.0:0.0:1.0:0.0	.	203	Q5VYS4	CM033_HUMAN	Y	203	ENSP00000369849:D203Y	ENSP00000369849:D203Y	D	+	1	0	C13orf33	30393803	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.741000	0.68638	2.509000	0.84616	0.462000	0.41574	GAT		0.348	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		T	31495803	G	T	31495803	3	4	15	1	0	0	0	0	1	0	0	0	1729	1290	45	4	621	4	C13orf33	13	31495803	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10		31495803	83674075	58	1086											
FREM2	341640	hgsc.bcm.edu	37	13	39263022	39263022	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr13:39263022C>T	ENST00000280481.7	+	1	1757	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	514					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGCTGGCAGCCGGCCAGGTG	0.602																																																0													25	25	25					13																	39263022		2203	4299	6502	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1541C>T	chr13.hg19:g.39263022C>T	ENSP00000280481:p.Ala514Val		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985880	0.35036	.	.	ENSG00000150893	ENST00000280481	T	0.21734	1.99	5.4	5.4	0.78164	.	0.174652	0.49916	D	0.000121	T	0.27027	0.0662	M	0.77313	2.365	0.50813	D	0.999898	B	0.31193	0.312	B	0.29524	0.103	T	0.03193	-1.1062	10	0.30854	T	0.27	.	14.0567	0.64774	0.1508:0.8492:0.0:0.0	.	514	Q5SZK8	FREM2_HUMAN	V	514	ENSP00000280481:A514V	ENSP00000280481:A514V	A	+	2	0	FREM2	38161022	1.000000	0.71417	0.192000	0.23308	0.928000	0.56348	4.764000	0.62264	2.538000	0.85594	0.561000	0.74099	GCC		0.602	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39263022	C	T	39263022	3	4	15	1	0	0	0	0	1	0	0	0	6047	739	26	2	1543	2	FREM2	13	39263022	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	7767219	39263022	75906856	59	1087											
PHF11	51131	hgsc.bcm.edu	37	13	50087269	50087269	+	Silent	SNP	A	A	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr13:50087269A>C	ENST00000378319.3	+	3	332	c.291A>C	c.(289-291)tcA>tcC	p.S97S	PHF11_ENST00000357596.3_Silent_p.S58S|PHF11_ENST00000488958.1_Silent_p.S58S	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		ATGTGGAATCAGTAAAGAAAG	0.383																																																0													119	117	117					13																	50087269		2203	4300	6503	SO:0001819	synonymous_variant	51131			AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"Zinc fingers, PHD-type"	17024	protein-coding gene	gene with protein product	"IgE responsiveness (atopic)"	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.291A>C	chr13.hg19:g.50087269A>C			Q5W0A4|Q5W0A6|Q9Y5A2	Silent	SNP	ENST00000378319.3	hg19	CCDS31975.1	.	.	.	.	.	.	.	.	.	.	A	9.279	1.047577	0.19827	.	.	ENSG00000136147	ENST00000426879	.	.	.	4.63	-1.37	0.09056	.	.	.	.	.	T	0.42988	0.1227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26985	-1.0087	4	.	.	.	-5.0934	3.6917	0.08348	0.5588:0.0:0.2586:0.1826	.	.	.	.	P	52	.	.	Q	+	2	0	PHF11	48985270	0.999000	0.42202	0.990000	0.47175	0.919000	0.55068	0.740000	0.26188	-0.278000	0.09180	-1.161000	0.01788	CAG		0.383	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	NM_016119		C	50087269	A	C	50087269	2	2	15	1	0	0	0	0	0	0	0	1	11824	175	7	5		5	PHF11	13	50087269	Silent	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	10824247	50087269	65082609	60	1088											
KIAA0586	9786	hgsc.bcm.edu	37	14	59006809	59006809	+	Silent	SNP	C	C	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr14:59006809C>A	ENST00000556134.1	+	31	4679	c.4405C>A	c.(4405-4407)Cgg>Agg	p.R1469R	KIAA0586_ENST00000423743.3_Silent_p.R1440R|KIAA0586_ENST00000261244.5_Silent_p.R1408R|KIAA0586_ENST00000354386.6_Silent_p.R1537R	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1469					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGATATGGATCGGACACAAAT	0.299																																																0													69	67	68					14																	59006809		1813	4064	5877	SO:0001819	synonymous_variant	9786			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4405C>A	chr14.hg19:g.59006809C>A			B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	hg19	CCDS58321.1																																																																																				0.299	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		A	59006809	C	A	59006809	2	1	15	1	0	0	0	0	0	0	0	1	8188	875	31	4		4	KIAA0586	14	59006809	Silent	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10		59006809	48342731	61	1089											
PCNX	22990	hgsc.bcm.edu	37	14	71514621	71514621	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr14:71514621C>A	ENST00000304743.2	+	22	4704	c.4258C>A	c.(4258-4260)Ctg>Atg	p.L1420M	PCNX_ENST00000439984.3_Missense_Mutation_p.L1309M|PCNX_ENST00000238570.5_Missense_Mutation_p.L1420M	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1420						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTTACTGTGCTGTTTTTCAA	0.373																																																0													186	165	172					14																	71514621		2202	4300	6502	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4258C>A	chr14.hg19:g.71514621C>A	ENSP00000304192:p.Leu1420Met		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	hg19	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.65|17.65	3.441835|3.441835	0.63067|0.63067	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.21932	.|2.37;2.41;1.98	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.121727	.|0.56097	.|D	.|0.000021	.|T	.|0.50735	.|0.1633	M|M	0.86651|0.86651	2.83|2.83	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.89917	.|1.0;0.997;0.999	.|D;D;D	.|0.87578	.|0.998;0.947;0.996	.|T	.|0.56774	.|-0.7923	.|10	.|0.87932	.|D	.|0	.|.	12.679|12.679	0.56912|0.56912	0.0:0.9242:0.0:0.0757|0.0:0.9242:0.0:0.0757	.|.	.|1420;1309;1420	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	X|M	478|1420;1420;1309	.|ENSP00000304192:L1420M;ENSP00000238570:L1420M;ENSP00000396617:L1309M	.|ENSP00000238570:L1420M	C|L	+|+	3|1	2|2	PCNX|PCNX	70584374|70584374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.776000|7.776000	0.85560|0.85560	2.640000|2.640000	0.89533|0.89533	0.591000|0.591000	0.81541|0.81541	TGC|CTG		0.373	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		A	71514621	C	A	71514621	3	1	15	1	0	0	0	0	1	0	0	0	11593	796	28	4	4344	4	PCNX	14	71514621	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	12507812	71514621	35834919	62	1090											
TTLL5	23093	hgsc.bcm.edu	37	14	76156649	76156649	+	Missense_Mutation	SNP	G	G	C	rs374680809		TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr14:76156649G>C	ENST00000298832.9	+	6	691	c.486G>C	c.(484-486)gaG>gaC	p.E162D	TTLL5_ENST00000286650.5_Missense_Mutation_p.E162D|TTLL5_ENST00000557636.1_Missense_Mutation_p.E162D	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	162	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGCCAGCTGAGTACGCGGAAT	0.498																																																0													124	97	106					14																	76156649		2203	4300	6503	SO:0001583	missense	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.486G>C	chr14.hg19:g.76156649G>C	ENSP00000298832:p.Glu162Asp		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	hg19	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340819	0.41498	.	.	ENSG00000119685	ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.05996	3.36;3.51;3.36	5.26	4.37	0.52481	.	0.096661	0.64402	D	0.000001	T	0.05410	0.0143	N	0.20685	0.6	0.80722	D	1	P;P;P	0.40909	0.478;0.732;0.72	B;P;B	0.46975	0.397;0.533;0.373	T	0.46652	-0.9176	10	0.07990	T	0.79	.	7.3204	0.26523	0.2583:0.0:0.7417:0.0	.	162;162;162	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	D	162	ENSP00000450713:E162D;ENSP00000286650:E162D;ENSP00000298832:E162D	ENSP00000286650:E162D	E	+	3	2	TTLL5	75226402	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.128000	0.50492	1.204000	0.43247	0.655000	0.94253	GAG		0.498	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		C	76156649	G	C	76156649	3	2	15	1	0	0	0	0	1	0	0	0	16735	1020	36	4	504	4	TTLL5	14	76156649	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	4642028	76156649	31192891	63	1091											
CDAN1	146059	hgsc.bcm.edu	37	15	43023515	43023515	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr15:43023515T>C	ENST00000356231.3	-	12	1777	c.1754A>G	c.(1753-1755)cAg>cGg	p.Q585R		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	585					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CATGAGATGCTGGTTAAACTG	0.547																																																0													70	72	72					15																	43023515		2203	4299	6502	SO:0001583	missense	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1754A>G	chr15.hg19:g.43023515T>C	ENSP00000348564:p.Gln585Arg		Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	hg19	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.169073	0.78339	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87650	-2.28	5.92	5.92	0.95590	.	0.106801	0.64402	D	0.000003	D	0.82930	0.5144	N	0.26042	0.785	0.58432	D	0.999998	P	0.46142	0.873	B	0.44044	0.439	D	0.84011	0.0348	10	0.45353	T	0.12	-20.3702	16.3648	0.83312	0.0:0.0:0.0:1.0	.	585	Q8IWY9	CDAN1_HUMAN	R	585;583	ENSP00000348564:Q585R	ENSP00000267892:Q583R	Q	-	2	0	CDAN1	40810807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.393000	0.79851	2.263000	0.75096	0.533000	0.62120	CAG		0.547	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		C	43023515	T	C	43023515	3	2	15	1	0	0	0	0	1	0	0	0	3056	1580	55	3	1997	3	CDAN1	15	43023515	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10		43023515	59507877	64	1092											
VPS13C	54832	hgsc.bcm.edu	37	15	62277127	62277127	+	Silent	SNP	T	T	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr15:62277127T>C	ENST00000261517.5	-	19	1723	c.1650A>G	c.(1648-1650)ccA>ccG	p.P550P	VPS13C_ENST00000249837.3_Silent_p.P507P|VPS13C_ENST00000395898.3_Silent_p.P507P|VPS13C_ENST00000395896.4_Silent_p.P550P	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAGTATTTCTGGAATATTCT	0.328																																																0													79	79	79					15																	62277127		2203	4300	6503	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1650A>G	chr15.hg19:g.62277127T>C				Silent	SNP	ENST00000261517.5	hg19	CCDS32257.1																																																																																				0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62277127	T	C	62277127	2	2	15	1	0	0	0	0	0	0	0	1	17196	1567	55	3		3	VPS13C	15	62277127	Silent	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	19253612	62277127	40254265	65	1093											
HAGH	3029	hgsc.bcm.edu	37	16	1869933	1869933	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr16:1869933G>T	ENST00000397356.3	-	4	803	c.397C>A	c.(397-399)Ctg>Atg	p.L133M	HAGH_ENST00000455446.2_Missense_Mutation_p.L133M|HAGH_ENST00000397353.2_Missense_Mutation_p.L85M|HAGH_ENST00000566709.1_Missense_Mutation_p.L85M	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	133					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTGTGAGTCAGGGCCCCGATA	0.617																																					Pancreas(55;1048 1176 25227 40124 41333)											0													122	97	105					16																	1869933		2199	4300	6499	SO:0001583	missense	3029			X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.397C>A	chr16.hg19:g.1869933G>T	ENSP00000380514:p.Leu133Met		A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	hg19	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110487	0.37242	.	.	ENSG00000063854	ENST00000455446;ENST00000397356;ENST00000397353	D;D;D	0.96334	-3.98;-3.98;-3.98	5.02	3.04	0.35103	Beta-lactamase-like (2);	0.081935	0.48767	D	0.000175	D	0.97225	0.9093	M	0.80422	2.495	0.80722	D	1	D;P;P;P	0.56035	0.974;0.945;0.829;0.877	P;P;B;P	0.61070	0.883;0.726;0.341;0.659	D	0.96217	0.9157	10	0.54805	T	0.06	-8.7923	10.1115	0.42565	0.1539:0.0:0.8461:0.0	.	133;130;85;133	E7EN93;B4DT01;Q16775-2;Q16775	.;.;.;GLO2_HUMAN	M	133;133;85	ENSP00000406552:L133M;ENSP00000380514:L133M;ENSP00000380511:L85M	ENSP00000380511:L85M	L	-	1	2	HAGH	1809934	0.997000	0.39634	0.997000	0.53966	0.127000	0.20565	1.296000	0.33389	0.611000	0.30052	0.561000	0.74099	CTG		0.617	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		T	1869933	G	T	1869933	3	4	15	1	0	0	0	0	1	0	0	0	6947	991	35	4	553	4	HAGH	16	1869933	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10		1869933	88484820	66	1094											
PLEKHG4	25894	hgsc.bcm.edu	37	16	67320229	67320229	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr16:67320229A>T	ENST00000360461.5	+	14	5030	c.2495A>T	c.(2494-2496)gAt>gTt	p.D832V	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.D832V|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.D751V|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.D832V	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	832	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCTCGCTCCGATGCCCTGATG	0.562																																																0													158	120	133					16																	67320229		2198	4300	6498	SO:0001583	missense	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2495A>T	chr16.hg19:g.67320229A>T	ENSP00000353646:p.Asp832Val		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	hg19	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332590	0.81801	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.44	5.44	0.79542	Dbl homology (DH) domain (5);	0.000000	0.34338	N	0.004055	T	0.73281	0.3567	M	0.64997	1.995	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.66602	0.909;0.945	T	0.76165	-0.3059	10	0.87932	D	0	.	10.3785	0.44096	0.8444:0.0:0.0:0.1556	.	751;832	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	V	832;832;832;751	ENSP00000353646:D832V;ENSP00000401118:D832V;ENSP00000368649:D832V;ENSP00000398030:D751V	ENSP00000353646:D832V	D	+	2	0	PLEKHG4	65877730	1.000000	0.71417	0.951000	0.38953	0.919000	0.55068	5.193000	0.65120	2.082000	0.62665	0.459000	0.35465	GAT		0.562	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		T	67320229	A	T	67320229	3	4	15	1	0	0	0	0	1	0	0	0	12073	333	12	5	2549	5	PLEKHG4	16	67320229	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	65450296	67320229	23034524	67	1095											
PRPF8	10594	hgsc.bcm.edu	37	17	1564944	1564944	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr17:1564944T>G	ENST00000572621.1	-	25	4428	c.4163A>C	c.(4162-4164)gAg>gCg	p.E1388A	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1388A			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1388	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAGTGCGTACTCAGCCCAGAC	0.567																																																0													105	86	92					17																	1564944		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4163A>C	chr17.hg19:g.1564944T>G	ENSP00000460348:p.Glu1388Ala		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	hg19	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	t	23.6	4.438695	0.83885	.	.	ENSG00000174231	ENST00000304992	D	0.84370	-1.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94318	0.8174	M	0.92970	3.365	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95339	0.8436	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1388	Q6P2Q9	PRP8_HUMAN	A	1388	ENSP00000304350:E1388A	ENSP00000304350:E1388A	E	-	2	0	PRPF8	1511694	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.013000	0.88655	2.371000	0.80710	0.533000	0.62120	GAG		0.567	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			G	1564944	T	G	1564944	3	3	15	1	0	0	0	0	1	0	0	0	12580	1551	54	5	2916	5	PRPF8	17	1564944	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10		1564944	79630266	68	1096											
WSCD1	23302	hgsc.bcm.edu	37	17	6023951	6023951	+	Frame_Shift_Del	DEL	G	G	-	rs554473306		TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr17:6023951delG	ENST00000574946.1	+	9	2088	c.1698delG	c.(1696-1698)acgfs	p.T566fs	WSCD1_ENST00000573634.1_Frame_Shift_Del_p.T450fs|WSCD1_ENST00000317744.5_Frame_Shift_Del_p.T566fs|WSCD1_ENST00000539421.1_Frame_Shift_Del_p.T566fs|WSCD1_ENST00000574232.1_Frame_Shift_Del_p.T566fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	566						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACAACTGGACGGGGCTGCCCA	0.662																																																0													44	49	47					17																	6023951		2203	4300	6503	SO:0001589	frameshift_variant	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1698delG	chr17.hg19:g.6023951delG	ENSP00000460825:p.Thr566fs		A8K0N8|D3DTM3|O60276|Q96G45	Frame_Shift_Del	DEL	ENST00000574946.1	hg19	CCDS32538.1																																																																																				0.662	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		-	6023951	G	-	6023951	7	5	15	1	0	1	0	1	0	0	0	0	17411	1103	39	0	1728	0	WSCD1	17	6023951	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JL-01A-11D-A42J-10	4459007	6023951	75171259	69	1097											
SLC16A11	162515	hgsc.bcm.edu	37	17	6945476	6945476	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr17:6945476A>G	ENST00000308009.1	-	3	1362	c.1025T>C	c.(1024-1026)cTg>cCg	p.L342P	SLC16A11_ENST00000447225.1_Missense_Mutation_p.L310P	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	342					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CGCGGCCAGCAGGGGACCCCC	0.726																																																0													7	11	10					17																	6945476		2159	4207	6366	SO:0001583	missense	162515			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1025T>C	chr17.hg19:g.6945476A>G	ENSP00000310490:p.Leu342Pro			Missense_Mutation	SNP	ENST00000308009.1	hg19	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.395782	0.62177	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.62105	0.05;0.05	4.96	4.96	0.65561	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000007	T	0.79347	0.4430	M	0.83603	2.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.82629	-0.0363	10	0.87932	D	0	.	12.6448	0.56728	1.0:0.0:0.0:0.0	.	342	Q8NCK7	MOT11_HUMAN	P	342;310	ENSP00000310490:L342P;ENSP00000394449:L310P	ENSP00000310490:L342P	L	-	2	0	SLC16A11	6886200	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.801000	0.62532	2.074000	0.62210	0.460000	0.39030	CTG		0.726	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		G	6945476	A	G	6945476	3	3	15	1	0	0	0	0	1	0	0	0	14410	188	7	3	398	3	SLC16A11	17	6945476	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	921525	6945476	74249734	70	1098											
LSMD1	84316	hgsc.bcm.edu	37	17	7760532	7760532	+	Intron	SNP	C	C	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr17:7760532C>A	ENST00000335155.5	-	2	81				LSMD1_ENST00000570555.1_5'Flank|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000333775.5_Missense_Mutation_p.L70F|CYB5D1_ENST00000571846.1_5'Flank|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000575208.1_Intron|LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000576384.1_5'UTR|LSMD1_ENST00000575771.1_Intron			Q9BRA0	LSMD1_HUMAN							negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				CGGGGTGTAACAAGCGCTCAG	0.697											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(66;626 1401 29924 42527)											0													40	43	42					17																	7760532		2203	4295	6498	SO:0001627	intron_variant	84316																														ENST00000335155.5:c.82-16G>T	chr17.hg19:g.7760532C>A		644	Q8N4M0	Missense_Mutation	SNP	ENST00000335155.5	hg19		.	.	.	.	.	.	.	.	.	.	C	6.764	0.509883	0.12883	.	.	ENSG00000183011	ENST00000333775	T	0.54675	0.56	4.56	3.59	0.41128	.	0.696299	0.11829	N	0.525380	T	0.35711	0.0941	.	.	.	0.21220	N	0.999753	B	0.21905	0.062	B	0.21360	0.034	T	0.18871	-1.0323	8	.	.	.	.	7.9928	0.30250	0.1821:0.6418:0.1761:0.0	.	70	Q9BRA0-2	.	F	70	ENSP00000332103:L70F	.	L	-	3	2	LSMD1	7701257	0.008000	0.16893	0.153000	0.22517	0.082000	0.17680	1.447000	0.35101	1.282000	0.44496	0.448000	0.29417	TTG		0.697	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				A	7760532	C	A	7760532	1	1	15	0	1	0	0	0	0	0	0	0	9064	477	17	4		4	LSMD1	17	7760532	Intron	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10	815056	7760532	73434678	71	1099											
DSC1	1823	hgsc.bcm.edu	37	18	28712612	28712612	+	Silent	SNP	T	T	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr18:28712612T>C	ENST00000257198.5	-	14	2418	c.2157A>G	c.(2155-2157)acA>acG	p.T719T	DSC1_ENST00000257197.3_Silent_p.T719T|RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	719					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTTCTTGACTGTTCTCTTAG	0.323																																																0													118	110	113					18																	28712612		2202	4300	6502	SO:0001819	synonymous_variant	1823			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2157A>G	chr18.hg19:g.28712612T>C			Q9HB01	Silent	SNP	ENST00000257198.5	hg19	CCDS11894.1																																																																																				0.323	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		C	28712612	T	C	28712612	2	2	15	1	0	0	0	0	0	0	0	1	4767	1567	55	3		3	DSC1	18	28712612	Silent	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10		28712612	49364636	72	1100											
AMH	268	hgsc.bcm.edu	37	19	2251466	2251466	+	Missense_Mutation	SNP	C	C	T	rs368933314		TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr19:2251466C>T	ENST00000221496.4	+	5	1215	c.1193C>T	c.(1192-1194)cCg>cTg	p.P398L	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	398					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTGCCTCCGGCCACAGCC	0.776									Persistant Mullerian Duct Syndrome (type I and II)				C|||	1	0.000199681	0.0	0.0014	5008	,	,		6910	0.0		0.0	False		,,,				2504	0.0															0													1	1	1					19																	2251466		536	1059	1595	SO:0001583	missense	268	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"Endogenous ligands"	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.1193C>T	chr19.hg19:g.2251466C>T	ENSP00000221496:p.Pro398Leu		O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	hg19	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	C	9.562	1.118713	0.20877	.	.	ENSG00000104899	ENST00000221496	D	0.81579	-1.51	4.12	3.04	0.35103	Anti-Mullerian hormone, N-terminal (1);	0.526148	0.17147	U	0.185215	T	0.74390	0.3710	M	0.64997	1.995	0.09310	N	1	B	0.25441	0.126	B	0.16722	0.016	T	0.65434	-0.6169	10	0.52906	T	0.07	-4.6354	7.4131	0.27029	0.0:0.7283:0.1726:0.0991	.	398	P03971	MIS_HUMAN	L	398	ENSP00000221496:P398L	ENSP00000221496:P398L	P	+	2	0	AMH	2202466	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.232000	0.17891	0.675000	0.31264	0.485000	0.47835	CCG		0.776	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479		T	2251466	C	T	2251466	3	4	15	1	0	0	0	0	1	0	0	0	572	652	23	1	1211	1	AMH	19	2251466	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10		2251466	56877517	73	1101											
LRG1	116844	hgsc.bcm.edu	37	19	4538577	4538577	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr19:4538577G>C	ENST00000306390.6	-	2	879	c.419C>G	c.(418-420)gCc>gGc	p.A140G	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	140					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCAGGGTGGCTGAGGCCTG	0.642																																																0													30	35	34					19																	4538577		2191	4284	6475	SO:0001583	missense	116844				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.419C>G	chr19.hg19:g.4538577G>C	ENSP00000302621:p.Ala140Gly		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	hg19	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	14.52	2.560456	0.45590	.	.	ENSG00000171236	ENST00000306390	T	0.57436	0.4	4.71	2.36	0.29203	.	0.604145	0.13808	N	0.361308	T	0.46698	0.1406	N	0.05306	-0.075	0.28685	N	0.904909	D	0.89917	1.0	D	0.74348	0.983	T	0.34030	-0.9845	10	0.44086	T	0.13	-10.711	7.5892	0.28010	0.0:0.1809:0.6323:0.1868	.	140	P02750	A2GL_HUMAN	G	140	ENSP00000302621:A140G	ENSP00000302621:A140G	A	-	2	0	LRG1	4489577	0.000000	0.05858	0.008000	0.14137	0.349000	0.29174	0.645000	0.24782	1.161000	0.42604	0.655000	0.94253	GCC		0.642	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		C	4538577	G	C	4538577	3	2	15	1	0	0	0	0	1	0	0	0	8944	1203	42	4	628	4	LRG1	19	4538577	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	2287111	4538577	54590406	74	1102											
COL5A3	50509	hgsc.bcm.edu	37	19	10085009	10085009	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr19:10085009A>T	ENST00000264828.3	-	46	3503	c.3418T>A	c.(3418-3420)Ttt>Att	p.F1140I		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1140	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCCCCACAAAGCCTCTGACT	0.612																																																0													78	77	78					19																	10085009		2203	4300	6503	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3418T>A	chr19.hg19:g.10085009A>T	ENSP00000264828:p.Phe1140Ile		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	hg19	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	A	31	5.059224	0.93846	.	.	ENSG00000080573	ENST00000264828	D	0.93189	-3.18	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	N	0.16567	0.415	0.46011	D	0.998811	D	0.54207	0.965	P	0.61201	0.885	D	0.91247	0.5026	10	0.35671	T	0.21	.	12.4453	0.55647	1.0:0.0:0.0:0.0	.	1140	P25940	CO5A3_HUMAN	I	1140	ENSP00000264828:F1140I	ENSP00000264828:F1140I	F	-	1	0	COL5A3	9946009	1.000000	0.71417	0.933000	0.37362	0.877000	0.50540	6.360000	0.73064	1.821000	0.53095	0.260000	0.18958	TTT		0.612	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10085009	A	T	10085009	3	4	15	1	0	0	0	0	1	0	0	0	3700	72	3	5	1907	5	COL5A3	19	10085009	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	5546432	10085009	49043974	75	1103											
PDE4A	5141	hgsc.bcm.edu	37	19	10572554	10572554	+	Splice_Site	DEL	T	T	-			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr19:10572554delT	ENST00000352831.6	+	13	1732	c.1622delT	c.(1621-1623)gtg>gg	p.V541fs	PDE4A_ENST00000440014.2_Splice_Site_p.V480fs|PDE4A_ENST00000592685.1_Splice_Site_p.V519fs|PDE4A_ENST00000380702.2_Splice_Site_p.V519fs|PDE4A_ENST00000344979.3_Splice_Site_p.V302fs|PDE4A_ENST00000293683.5_Splice_Site_p.V515fs	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	541	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TGCCCGCAGGTGCTGGCCACG	0.637																																																0													70	64	66					19																	10572554		2203	4300	6503	SO:0001630	splice_region_variant	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1621-1T>-	chr19.hg19:g.10572554delT			O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Frame_Shift_Del	DEL	ENST00000352831.6	hg19	CCDS45961.1																																																																																				0.637	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		Frame_Shift_Del	-	10572554	T	-	10572554	8	5	15	1	0	1	0	1	0	0	1	0	11641	1710	59	0	2129	0	PDE4A	19	10572554	Splice_Site	DEL	T	TCGA-2Z-A9JL-01A-11D-A42J-10	487545	10572554	48556429	76	1104											
PDE4A	5141	hgsc.bcm.edu	37	19	10578237	10578237	+	Silent	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr19:10578237G>T	ENST00000352831.6	+	15	2711	c.2601G>T	c.(2599-2601)ggG>ggT	p.G867G	PDE4A_ENST00000440014.2_Silent_p.G806G|PDE4A_ENST00000592685.1_Silent_p.G845G|PDE4A_ENST00000380702.2_Silent_p.G845G|PDE4A_ENST00000344979.3_Silent_p.G628G|PDE4A_ENST00000293683.5_Silent_p.G841G	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	867					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GGACATTTGGGGAGGACACAT	0.692																																																0													44	46	45					19																	10578237		2158	4226	6384	SO:0001819	synonymous_variant	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2601G>T	chr19.hg19:g.10578237G>T			O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	hg19	CCDS45961.1																																																																																				0.692	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			T	10578237	G	T	10578237	2	4	15	1	0	0	0	0	0	0	0	1	11641	1219	43	4		4	PDE4A	19	10578237	Silent	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	5683	10578237	48550746	77	1105											
SLC5A5	6528	hgsc.bcm.edu	37	19	18001737	18001737	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr19:18001737G>T	ENST00000222248.3	+	14	2041	c.1694G>T	c.(1693-1695)tGg>tTg	p.W565L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	565					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.W565*(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTGTTGTGGTGGGACCTCGCA	0.597																																					Melanoma(65;1008 1708 7910 46650)											1	Substitution - Nonsense(1)	NS(1)											112	111	111					19																	18001737		2203	4300	6503	SO:0001583	missense	6528				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1694G>T	chr19.hg19:g.18001737G>T	ENSP00000222248:p.Trp565Leu		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	hg19	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977884	0.74360	.	.	ENSG00000105641	ENST00000222248	D	0.84800	-1.9	4.71	4.71	0.59529	.	0.133028	0.56097	D	0.000040	T	0.79907	0.4527	L	0.53249	1.67	0.51012	D	0.999901	P	0.36683	0.565	B	0.24006	0.05	T	0.82890	-0.0233	10	0.66056	D	0.02	.	15.1801	0.72947	0.0:0.0:1.0:0.0	.	565	Q92911	SC5A5_HUMAN	L	565	ENSP00000222248:W565L	ENSP00000222248:W565L	W	+	2	0	SLC5A5	17862737	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	5.732000	0.68563	2.457000	0.83068	0.491000	0.48974	TGG		0.597	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			T	18001737	G	T	18001737	3	4	15	1	0	0	0	0	1	0	0	0	14674	1357	47	4	1748	4	SLC5A5	19	18001737	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	7423500	18001737	41127246	78	1106											
ZNF99	7652	hgsc.bcm.edu	37	19	22941432	22941432	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr19:22941432A>C	ENST00000596209.1	-	4	1369	c.1279T>G	c.(1279-1281)Tgt>Ggt	p.C427G	ZNF99_ENST00000397104.3_Missense_Mutation_p.C336G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTCTTCACATTTGCAGGGT	0.373																																																0													49	50	50					19																	22941432		2019	4204	6223	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1279T>G	chr19.hg19:g.22941432A>C	ENSP00000472969:p.Cys427Gly		M0R335	Missense_Mutation	SNP	ENST00000596209.1	hg19	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	11.83	1.755283	0.31046	.	.	ENSG00000213973	ENST00000397104	T	0.36878	1.23	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62097	0.2400	H	0.97415	4	0.35732	D	0.818029	P	0.41597	0.756	P	0.54174	0.744	T	0.67413	-0.5677	9	0.87932	D	0	.	4.314	0.10984	0.7002:0.0:0.0:0.2998	.	336	A8MXY4	ZNF99_HUMAN	G	336	ENSP00000380293:C336G	ENSP00000380293:C336G	C	-	1	0	ZNF99	22733272	0.726000	0.28059	0.011000	0.14972	0.049000	0.14656	3.018000	0.49625	0.566000	0.29273	0.325000	0.21440	TGT		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		C	22941432	A	C	22941432	3	2	15	1	0	0	0	0	1	0	0	0	18209	217	8	5	2118	5	ZNF99	19	22941432	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	4939695	22941432	36187551	79	1107											
ZNF529	57711	hgsc.bcm.edu	37	19	37038656	37038656	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr19:37038656T>G	ENST00000591340.1	-	5	962	c.804A>C	c.(802-804)aaA>aaC	p.K268N	ZNF529_ENST00000334116.7_Missense_Mutation_p.K163N	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					GTGGAGTAACTTTTCCAACTC	0.343																																																0													139	137	138					19																	37038656		1869	4115	5984	SO:0001583	missense	57711			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"Zinc fingers, C2H2-type", "-"	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.804A>C	chr19.hg19:g.37038656T>G	ENSP00000465578:p.Lys268Asn		K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	hg19	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	T	1.646	-0.515161	0.04200	.	.	ENSG00000186020	ENST00000334116	T	0.07908	3.15	3.36	2.29	0.28610	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.01631	-0.79	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.47341	-0.9125	9	0.12103	T	0.63	.	3.9738	0.09465	0.3664:0.0:0.1882:0.4453	.	163;235	Q6P280-2;Q6P280	.;ZN529_HUMAN	N	268	ENSP00000334695:K268N	ENSP00000334695:K268N	K	-	3	2	ZNF529	41730496	0.000000	0.05858	0.010000	0.14722	0.321000	0.28281	0.374000	0.20501	0.451000	0.26802	-0.468000	0.05107	AAA		0.343	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		G	37038656	T	G	37038656	3	3	15	1	0	0	0	0	1	0	0	0	17975	1606	56	5	891	5	ZNF529	19	37038656	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	14097224	37038656	22090327	80	1108											
CAPN12	147968	hgsc.bcm.edu	37	19	39233092	39233092	+	Silent	SNP	T	T	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr19:39233092T>A	ENST00000328867.4	-	3	692	c.384A>T	c.(382-384)ggA>ggT	p.G128G	CAPN12_ENST00000601953.1_5'UTR|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	128	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGAAATCCTGTCCAGGAGGGA	0.602																																																0													58	51	53					19																	39233092		2203	4300	6503	SO:0001819	synonymous_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.384A>T	chr19.hg19:g.39233092T>A				Silent	SNP	ENST00000328867.4	hg19	CCDS12519.1																																																																																				0.602	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			A	39233092	T	A	39233092	2	1	15	1	0	0	0	0	0	0	0	1	2627	1654	58	5		5	CAPN12	19	39233092	Silent	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	2194436	39233092	19895891	81	1109											
PPP2R1A	5518	hgsc.bcm.edu	37	19	52714553	52714553	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr19:52714553T>G	ENST00000322088.6	+	4	369	c.311T>G	c.(310-312)gTg>gGg	p.V104G	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.V49G|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	104	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAGACAGTGGTGCGGGACAAG	0.642			Mis		clear cell ovarian carcinoma																																		Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0													46	47	47					19																	52714553		2203	4300	6503	SO:0001583	missense	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.311T>G	chr19.hg19:g.52714553T>G	ENSP00000324804:p.Val104Gly		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	hg19	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699824	0.48307	.	.	ENSG00000105568	ENST00000454220;ENST00000322088;ENST00000444322	T;T;T	0.41758	0.99;0.99;0.99	4.46	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.225482	0.29192	N	0.012863	T	0.74816	0.3766	H	0.97240	3.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.983;0.983	T	0.83177	-0.0091	10	0.87932	D	0	-27.762	12.0292	0.53388	0.0:0.0:0.0:1.0	.	49;104;104	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	G	144;104;49	ENSP00000391905:V144G;ENSP00000324804:V104G;ENSP00000415067:V49G	ENSP00000324804:V104G	V	+	2	0	PPP2R1A	57406365	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	6.983000	0.76180	2.009000	0.58944	0.533000	0.62120	GTG		0.642	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		G	52714553	T	G	52714553	3	3	15	1	0	0	0	0	1	0	0	0	12387	1696	59	5	325	5	PPP2R1A	19	52714553	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	13481461	52714553	6414430	82	1110											
TMC4	147798	hgsc.bcm.edu	37	19	54667538	54667538	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr19:54667538A>C	ENST00000376591.4	-	8	1344	c.1213T>G	c.(1213-1215)Ttt>Gtt	p.F405V	TMC4_ENST00000301187.4_Missense_Mutation_p.F399V|TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	405					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCAGCACAAAATTGACCCCA	0.572											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													102	97	99					19																	54667538		2203	4300	6503	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1213T>G	chr19.hg19:g.54667538A>C	ENSP00000365776:p.Phe405Val	1002	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	hg19	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.528689	0.27387	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.58652	0.32;0.32	5.14	3.92	0.45320	.	0.155752	0.56097	D	0.000024	T	0.50973	0.1647	M	0.67953	2.075	0.80722	D	1	B;B	0.19331	0.035;0.008	B;B	0.18263	0.021;0.017	T	0.55205	-0.8177	10	0.51188	T	0.08	-23.9714	6.2359	0.20762	0.8154:0.0:0.1846:0.0	.	405;399	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	V	399;405	ENSP00000301187:F399V;ENSP00000365776:F405V	ENSP00000301187:F399V	F	-	1	0	TMC4	59359350	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	1.333000	0.33816	2.074000	0.62210	0.418000	0.28097	TTT		0.572	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			C	54667538	A	C	54667538	3	2	15	1	0	0	0	0	1	0	0	0	15992	14	1	5	957	5	TMC4	19	54667538	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	1952985	54667538	4461445	83	1111											
CENPB	1059	hgsc.bcm.edu	37	20	3766089	3766089	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr20:3766089C>T	ENST00000379751.4	-	1	1248	c.1042G>A	c.(1042-1044)Gcg>Acg	p.A348T	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	348					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCCTCTAGCGCGGCCATGGCC	0.677																																																0													15	13	13					20																	3766089		2190	4286	6476	SO:0001583	missense	1059			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1042G>A	chr20.hg19:g.3766089C>T	ENSP00000369075:p.Ala348Thr		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	hg19	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	14.43	2.534064	0.45073	.	.	ENSG00000125817	ENST00000379751	T	0.43688	0.94	4.04	3.07	0.35406	.	0.000000	0.38548	U	0.001648	T	0.36496	0.0969	L	0.36672	1.1	0.20764	N	0.999853	P	0.49961	0.93	P	0.52066	0.689	T	0.14531	-1.0469	10	0.12103	T	0.63	-10.6982	6.8906	0.24226	0.2009:0.6041:0.195:0.0	.	348	P07199	CENPB_HUMAN	T	348	ENSP00000369075:A348T	ENSP00000369075:A348T	A	-	1	0	CENPB	3714089	0.275000	0.24201	0.311000	0.25182	0.916000	0.54674	3.011000	0.49567	0.647000	0.30713	0.457000	0.33378	GCG		0.677	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		T	3766089	C	T	3766089	3	4	15	1	0	0	0	0	1	0	0	0	3229	768	27	1	761	1	CENPB	20	3766089	Missense_Mutation	SNP	C	TCGA-2Z-A9JL-01A-11D-A42J-10		3766089	59259431	84	1112											
KIF16B	55614	hgsc.bcm.edu	37	20	16486456	16486456	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr20:16486456T>A	ENST00000354981.2	-	9	1068	c.911A>T	c.(910-912)aAg>aTg	p.K304M	KIF16B_ENST00000355755.3_Missense_Mutation_p.K304M|KIF16B_ENST00000408042.1_Missense_Mutation_p.K304M|KIF16B_ENST00000378003.2_De_novo_Start_InFrame	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	304	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAAAACTTGCTTCTTCTTTGC	0.363																																																0													60	57	58					20																	16486456		2203	4300	6503	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.911A>T	chr20.hg19:g.16486456T>A	ENSP00000347076:p.Lys304Met		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	hg19	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097820	0.76870	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.76968	-1.06;-1.06;-1.06	5.59	5.59	0.84812	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.89044	0.6603	M	0.89534	3.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90593	0.4538	10	0.87932	D	0	.	10.4254	0.44375	0.0:0.0729:0.0:0.9271	.	304;304;304;304	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	M	304	ENSP00000347076:K304M;ENSP00000347995:K304M;ENSP00000384164:K304M	ENSP00000347076:K304M	K	-	2	0	KIF16B	16434456	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.962000	0.63687	2.257000	0.74773	0.460000	0.39030	AAG		0.363	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		A	16486456	T	A	16486456	3	1	15	1	0	0	0	0	1	0	0	0	8280	1609	56	5	3114	5	KIF16B	20	16486456	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	12720367	16486456	46539064	85	1113											
B4GALT5	9334	hgsc.bcm.edu	37	20	48260082	48260082	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr20:48260082T>G	ENST00000371711.4	-	4	657	c.470A>C	c.(469-471)gAt>gCt	p.D157A		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	157					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			AGGCATGCAATCAGAAGGCTT	0.478																																																0													172	147	156					20																	48260082		2203	4300	6503	SO:0001583	missense	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.470A>C	chr20.hg19:g.48260082T>G	ENSP00000360776:p.Asp157Ala		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	hg19	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657772	0.88154	.	.	ENSG00000158470	ENST00000371711	T	0.36340	1.26	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	M	0.93283	3.4	0.80722	D	1	D	0.60575	0.988	D	0.69142	0.962	T	0.78430	-0.2207	10	0.72032	D	0.01	-29.6221	15.5342	0.75990	0.0:0.0:0.0:1.0	.	157	O43286	B4GT5_HUMAN	A	157	ENSP00000360776:D157A	ENSP00000360776:D157A	D	-	2	0	B4GALT5	47693489	1.000000	0.71417	0.549000	0.28204	0.993000	0.82548	8.036000	0.88901	2.060000	0.61445	0.459000	0.35465	GAT		0.478	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		G	48260082	T	G	48260082	3	3	15	1	0	0	0	0	1	0	0	0	1274	1435	50	5	720	5	B4GALT5	20	48260082	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10	31773626	48260082	14765438	86	1114											
PRIC285	85441	hgsc.bcm.edu	37	20	62190711	62190711	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr20:62190711A>G	ENST00000467148.1	-	19	7907	c.7838T>C	c.(7837-7839)cTt>cCt	p.L2613P	HELZ2_ENST00000427522.2_Missense_Mutation_p.L2044P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2613	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCAGCGCAGAAGGAGGTGGTC	0.657																																																0													19	19	19					20																	62190711		2195	4289	6484	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7838T>C	chr20.hg19:g.62190711A>G	ENSP00000417401:p.Leu2613Pro		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	hg19	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.131953	0.37630	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.83163	-1.69;-1.69	3.5	3.5	0.40072	.	0.101169	0.40728	N	0.001025	D	0.89146	0.6632	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.89105	0.3492	10	0.87932	D	0	.	8.3308	0.32184	1.0:0.0:0.0:0.0	.	2613;2044	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	P	2044;2613	ENSP00000393257:L2044P;ENSP00000417401:L2613P	ENSP00000393257:L2044P	L	-	2	0	RP4-697K14.7	61661155	0.993000	0.37304	0.961000	0.40146	0.159000	0.22180	4.432000	0.59922	1.481000	0.48307	0.379000	0.24179	CTT		0.657	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		G	62190711	A	G	62190711	3	3	15	1	0	0	0	0	1	0	0	0	12490	72	3	3	115	3	PRIC285	20	62190711	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	13930629	62190711	834809	87	1115											
NDUFV3	4731	hgsc.bcm.edu	37	21	44324023	44324023	+	Intron	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr21:44324023G>T	ENST00000340344.4	+	3	235				NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Missense_Mutation_p.A301S	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						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)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		AGGGTTGTCTGCGCCACCGAA	0.517																																																0													68	82	77					21																	44324023		2203	4298	6501	SO:0001627	intron_variant	4731				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-4951G>T	chr21.hg19:g.44324023G>T			A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	hg19	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417930	0.42918	.	.	ENSG00000160194	ENST00000354250	T	0.41400	1.0	5.21	-7.83	0.01201	.	0.910228	0.09528	N	0.789978	T	0.15782	0.0380	N	0.24115	0.695	0.09310	N	1	P	0.34462	0.454	B	0.20955	0.032	T	0.09930	-1.0652	10	0.25751	T	0.34	-1.6203	3.1029	0.06331	0.2488:0.2257:0.4144:0.1112	.	301	P56181-2	.	S	301	ENSP00000346196:A301S	ENSP00000346196:A301S	A	+	1	0	NDUFV3	43197092	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.078000	0.01370	-1.555000	0.01697	0.655000	0.94253	GCG		0.517	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			T	44324023	G	T	44324023	1	4	15	0	1	0	0	0	0	0	0	0	10303	1319	46	4		4	NDUFV3	21	44324023	Intron	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10		44324023	3805872	88	1116											
TRPM2	7226	hgsc.bcm.edu	37	21	45773684	45773684	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr21:45773684G>A	ENST00000397928.1	+	1	546	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	TRPM2_ENST00000300481.9_Missense_Mutation_p.R34Q|TRPM2_ENST00000300482.5_Missense_Mutation_p.R34Q|TRPM2_ENST00000397932.2_Missense_Mutation_p.R34Q	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	34					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCAATCTCCGGCGCAGCAAC	0.607																																																0													43	36	38					21																	45773684		2203	4300	6503	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.101G>A	chr21.hg19:g.45773684G>A	ENSP00000381023:p.Arg34Gln		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	hg19	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	1.216	-0.628356	0.03610	.	.	ENSG00000142185	ENST00000300482;ENST00000431901;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T;T	0.53206	0.74;0.87;0.74;0.76;0.63	4.4	1.6	0.23607	.	0.523002	0.16025	N	0.233105	T	0.22437	0.0541	N	0.05124	-0.11	0.09310	N	0.999991	B;B	0.18863	0.031;0.018	B;B	0.10450	0.005;0.005	T	0.17440	-1.0369	10	0.26408	T	0.33	-24.3716	6.9762	0.24677	0.3902:0.0:0.6098:0.0	.	34;34	E9PGK7;O94759	.;TRPM2_HUMAN	Q	34	ENSP00000300482:R34Q;ENSP00000393982:R34Q;ENSP00000381023:R34Q;ENSP00000300481:R34Q;ENSP00000381026:R34Q	ENSP00000300481:R34Q	R	+	2	0	TRPM2	44598112	0.005000	0.15991	0.046000	0.18839	0.016000	0.09150	-0.128000	0.10531	0.027000	0.15297	-0.254000	0.11334	CGG		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45773684	G	A	45773684	3	1	15	1	0	0	0	0	1	0	0	0	16591	1116	39	1	103	1	TRPM2	21	45773684	Missense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	1449661	45773684	2356211	89	1117											
SUMO3	6612	hgsc.bcm.edu	37	21	46226870	46226870	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr21:46226870A>C	ENST00000397898.3	-	4	440	c.358T>G	c.(358-360)Tct>Gct	p.S120A	SUMO3_ENST00000411651.2_Missense_Mutation_p.F141C|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000332859.6_Missense_Mutation_p.F103C|AL773604.8_ENST00000417820.1_RNA					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		GGCCCTCTAGAAACTGTGCCC	0.612																																																0													58	55	56					21																	46226870		2203	4300	6503	SO:0001583	missense	6612				CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"SMT3 (suppressor of mif two 3, yeast) homolog 1", "SMT3 suppressor of mif two 3 homolog 3 (yeast)", "SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.358T>G	chr21.hg19:g.46226870A>C	ENSP00000380995:p.Ser120Ala			Missense_Mutation	SNP	ENST00000397898.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.27|12.27	1.887953|1.887953	0.33348|0.33348	.|.	.|.	ENSG00000184900|ENSG00000184900	ENST00000332859;ENST00000411651|ENST00000397898	T;T|T	0.27256|0.26957	1.82;1.68|1.7	4.8|4.8	-0.774|-0.774	0.10991|0.10991	.|.	.|.	.|.	.|.	.|.	T|T	0.11410|0.11410	0.0278|0.0278	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B|B	0.43352|0.06786	0.804;0.138|0.001	B;B|B	0.37780|0.08055	0.258;0.037|0.003	T|T	0.26052|0.26052	-1.0114|-1.0114	9|9	0.87932|0.44086	D|T	0|0.13	.|.	5.9778|5.9778	0.19391|0.19391	0.6003:0.2568:0.1429:0.0|0.6003:0.2568:0.1429:0.0	.|.	141;103|120	B4DUW4;P55854|A8MUA9	.;SUMO3_HUMAN|.	C|A	103;141|120	ENSP00000330343:F103C;ENSP00000409666:F141C|ENSP00000380995:S120A	ENSP00000330343:F103C|ENSP00000380995:S120A	F|S	-|-	2|1	0|0	SUMO3|SUMO3	45051298|45051298	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.535000|0.535000	0.23114|0.23114	-0.196000|-0.196000	0.10366|0.10366	0.533000|0.533000	0.62120|0.62120	TTC|TCT		0.612	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1			C	46226870	A	C	46226870	3	2	15	1	0	0	0	0	1	0	0	0	15394	246	9	5	7	5	SUMO3	21	46226870	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	453186	46226870	1903025	90	1118											
GNAZ	2781	hgsc.bcm.edu	37	22	23465473	23465473	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr22:23465473T>C	ENST00000248996.4	+	3	1589	c.923T>C	c.(922-924)tTt>tCt	p.F308S	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	308					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CAGCGGCAGTTTGAAGACCTG	0.572																																																0													128	100	109					22																	23465473		2203	4300	6503	SO:0001583	missense	2781				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.923T>C	chr22.hg19:g.23465473T>C	ENSP00000248996:p.Phe308Ser		B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	hg19	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.849238	0.91277	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.92199	-2.99	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.97841	0.9291	H	0.99156	4.45	0.80722	D	1	D	0.64830	0.994	D	0.77557	0.99	D	0.99229	1.0881	10	0.87932	D	0	.	14.4404	0.67311	0.0:0.0:0.0:1.0	.	308	P19086	GNAZ_HUMAN	S	308;256	ENSP00000248996:F308S	ENSP00000248996:F308S	F	+	2	0	GNAZ	21795473	1.000000	0.71417	0.997000	0.53966	0.867000	0.49689	7.824000	0.86668	2.085000	0.62840	0.533000	0.62120	TTT		0.572	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		C	23465473	T	C	23465473	3	2	15	1	0	0	0	0	1	0	0	0	6516	1841	64	3	929	3	GNAZ	22	23465473	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10		23465473	27839093	91	1119											
TNRC6B	23112	hgsc.bcm.edu	37	22	40521834	40521834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr22:40521834G>T	ENST00000301923.9	+	3	315	c.13G>T	c.(13-15)Gag>Tag	p.E5*	TNRC6B_ENST00000402203.1_Nonsense_Mutation_p.E5*	NM_001024843.1	NP_001020014.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	0	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GCAAACCAATGAGGGAGAAGT	0.388																																																0													77	69	71					22																	40521834		1835	4086	5921	SO:0001587	stop_gained	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000301923.9:c.13G>T	chr22.hg19:g.40521834G>T	ENSP00000306759:p.Glu5*		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000301923.9	hg19	CCDS46712.1	.	.	.	.	.	.	.	.	.	.	G	37	6.303463	0.97458	.	.	ENSG00000100354	ENST00000441751;ENST00000301923;ENST00000402203	.	.	.	5.06	5.06	0.68205	.	0.000000	0.30076	U	0.010480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2021	0.86908	0.0:0.0:1.0:0.0	.	.	.	.	X	5	.	ENSP00000306759:E5X	E	+	1	0	TNRC6B	38851780	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.003000	0.70701	2.333000	0.79357	0.655000	0.94253	GAG		0.388	TNRC6B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321393.1			T	40521834	G	T	40521834	4	4	15	1	0	0	0	0	0	1	0	0	16346	1291	45	4	15	4	TNRC6B	22	40521834	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	17056361	40521834	10782732	92	1120											
PKDREJ	10343	hgsc.bcm.edu	37	22	46658026	46658026	+	Silent	SNP	G	G	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr22:46658026G>T	ENST00000253255.5	-	1	1193	c.1194C>A	c.(1192-1194)gtC>gtA	p.V398V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	398	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGGGGTGACAGACTTCCTTGC	0.532																																																0													89	94	92					22																	46658026		2203	4300	6503	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1194C>A	chr22.hg19:g.46658026G>T			B1AJY3|O95850	Silent	SNP	ENST00000253255.5	hg19	CCDS14073.1																																																																																				0.532	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		T	46658026	G	T	46658026	2	4	15	1	0	0	0	0	0	0	0	1	11972	929	33	4		4	PKDREJ	22	46658026	Silent	SNP	G	TCGA-2Z-A9JL-01A-11D-A42J-10	6136192	46658026	4646540	93	1121											
MOV10L1	54456	hgsc.bcm.edu	37	22	50528560	50528560	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chr22:50528560A>T	ENST00000262794.5	+	1	126	c.43A>T	c.(43-45)Acg>Tcg	p.T15S	MOV10L1_ENST00000545383.1_Missense_Mutation_p.T15S|MOV10L1_ENST00000395843.1_De_novo_Start_InFrame|MOV10L1_ENST00000395858.3_Missense_Mutation_p.T15S|MOV10L1_ENST00000540615.1_5'Flank	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	15					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTTCTGGAGGACGGCGGACAC	0.766																																																0													7	7	7					22																	50528560		1561	2879	4440	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.43A>T	chr22.hg19:g.50528560A>T	ENSP00000262794:p.Thr15Ser		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	hg19	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	A	9.737	1.163791	0.21538	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858	D;D;T	0.83837	-1.77;-1.77;-1.36	4.73	0.995	0.19838	.	0.514876	0.18784	N	0.131244	T	0.68787	0.3039	N	0.19112	0.55	0.80722	D	1	B;B	0.16396	0.017;0.017	B;B	0.09377	0.004;0.004	T	0.56763	-0.7925	10	0.26408	T	0.33	-11.1627	11.8849	0.52596	0.7766:0.2234:0.0:0.0	.	15;15	A8MXC6;Q9BXT6	.;M10L1_HUMAN	S	15	ENSP00000438978:T15S;ENSP00000262794:T15S;ENSP00000379199:T15S	ENSP00000262794:T15S	T	+	1	0	MOV10L1	48870687	0.987000	0.35691	0.666000	0.29783	0.224000	0.24922	1.078000	0.30754	0.249000	0.21456	0.460000	0.39030	ACG		0.766	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		T	50528560	A	T	50528560	3	4	15	1	0	0	0	0	1	0	0	0	9721	275	10	5	45	5	MOV10L1	22	50528560	Missense_Mutation	SNP	A	TCGA-2Z-A9JL-01A-11D-A42J-10	3870534	50528560	776006	94	1122											
ATP1B4	23439	hgsc.bcm.edu	37	X	119504978	119504978	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JL-01A-11D-A42J-10	TCGA-2Z-A9JL-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d76bb38d-3ef3-4a37-bc21-5b7bc290d112	27a1d440-82fb-44f6-b007-5ad71c7b4cc1	g.chrX:119504978T>C	ENST00000218008.3	+	4	532	c.475T>C	c.(475-477)Ttc>Ctc	p.F159L	ATP1B4_ENST00000361319.3_Missense_Mutation_p.F155L|ATP1B4_ENST00000539306.1_Missense_Mutation_p.F116L	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	159					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GATCAGACCCTTCGCCCATAG	0.413																																																0													133	109	117					X																	119504978		2203	4300	6503	SO:0001583	missense	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.475T>C	chrX.hg19:g.119504978T>C	ENSP00000218008:p.Phe159Leu		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	hg19	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.194981	0.38806	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.28255	1.62;1.62;1.62	5.51	5.51	0.81932	.	0.144564	0.64402	D	0.000005	T	0.14743	0.0356	N	0.02751	-0.505	0.40189	D	0.977385	P;B;P;P	0.44877	0.845;0.261;0.729;0.683	B;B;B;B	0.43331	0.416;0.344;0.277;0.181	T	0.16837	-1.0389	10	0.11485	T	0.65	-16.9285	12.2846	0.54786	0.0:0.0:0.0:1.0	.	116;124;159;155	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	L	159;155;116	ENSP00000218008:F159L;ENSP00000355346:F155L;ENSP00000443334:F116L	ENSP00000218008:F159L	F	+	1	0	ATP1B4	119389006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.467000	0.53078	1.835000	0.53391	0.441000	0.28932	TTC		0.413	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		C	119504978	T	C	119504978	3	2	15	1	0	0	0	0	1	0	0	0	1135	1609	56	3	489	3	ATP1B4	23	119504978	Missense_Mutation	SNP	T	TCGA-2Z-A9JL-01A-11D-A42J-10		119504978	35765582	95	1123											
SDF4	51150	hgsc.bcm.edu	37	1	1163850	1163850	+	Silent	SNP	G	G	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr1:1163850G>T	ENST00000360001.6	-	2	586	c.324C>A	c.(322-324)tcC>tcA	p.S108S	SDF4_ENST00000545427.1_Silent_p.S108S|SDF4_ENST00000459994.2_5'UTR|SDF4_ENST00000263741.7_Silent_p.S108S			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	108	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCACCTACTTGGAAAAGATGA	0.667																																																0													27	32	31					1																	1163850		2201	4298	6499	SO:0001819	synonymous_variant	51150				CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"EF-hand domain containing"	24188	protein-coding gene	gene with protein product	"calcium binding protein"	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.324C>A	chr1.hg19:g.1163850G>T			B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Silent	SNP	ENST00000360001.6	hg19	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055142	0.36277	.	.	ENSG00000078808	ENST00000403997	.	.	.	3.86	1.73	0.24493	.	.	.	.	.	T	0.56016	0.1957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50849	-0.8779	4	.	.	.	-24.5532	8.5179	0.33257	0.0957:0.0:0.7422:0.1621	.	.	.	.	K	43	.	.	Q	-	1	0	SDF4	1153713	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.612000	0.46343	0.828000	0.34709	0.511000	0.50034	CAA		0.667	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		T	1163850	G	T	1163850	2	4	16	1	0	0	0	0	0	0	0	1	13968	1335	47	4		4	SDF4	1	1163850	Silent	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10		1163850	248086771	1	1124											
KNCN	148930	hgsc.bcm.edu	37	1	47014904	47014905	+	Missense_Mutation	DNP	GG	GG	TC	rs191194559		TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr1:47014904_47014905GG>TC	ENST00000481882.2	-	3	566_567	c.255_256CC>GA	c.(253-258)gaCCac>gaGAac	p.85_86DH>EN	KNCN_ENST00000524908.1_5'UTR|KNCN_ENST00000396314.3_Missense_Mutation_p.62_63DH>EN|MKNK1-AS1_ENST00000602433.1_RNA			A6PVL3	KNCN_HUMAN	kinocilin	85						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					CCTTCCCCGTGGTCTGCCCCTG	0.5																																																0																																										SO:0001583	missense	148930			AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.255_256delinsTC	chr1.hg19:g.47014904_47014905delinsTC	ENSP00000419705:p.D85_H86delinsEN		A8MXE3	Missense_Mutation	SNP	ENST00000481882.2	hg19																																																																																					0.5	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	NM_182516		TC	47014905	GG	TC	47014904	3	4	16	1	0	0	0	0	1	0	0	0	8427	1348	47	4	126	4	KNCN	1	47014904	Missense_Mutation	DNP	GG	TCGA-2Z-A9JM-01A-12D-A42J-10	45851054	47014904	202235717	2	1125											
SLC44A3	126969	hgsc.bcm.edu	37	1	95323000	95323000	+	Silent	SNP	C	C	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr1:95323000C>A	ENST00000271227.6	+	10	1284	c.1182C>A	c.(1180-1182)atC>atA	p.I394I	SLC44A3_ENST00000532427.1_Silent_p.I314I|SLC44A3_ENST00000529450.1_Silent_p.I362I|SLC44A3_ENST00000467909.1_Silent_p.I346I|SLC44A3_ENST00000530397.1_3'UTR|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000527077.1_Silent_p.I326I|SLC44A3_ENST00000446120.2_Silent_p.I358I	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	394					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GTGAATTCATCCTTGCGTGCC	0.443																																																0													190	172	178					1																	95323000		2203	4300	6503	SO:0001819	synonymous_variant	126969			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1182C>A	chr1.hg19:g.95323000C>A			B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Silent	SNP	ENST00000271227.6	hg19	CCDS44176.1																																																																																				0.443	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		A	95323000	C	A	95323000	2	1	16	1	0	0	0	0	0	0	0	1	14643	845	30	4		4	SLC44A3	1	95323000	Silent	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	48308096	95323000	153927621	3	1126											
VANGL1	81839	hgsc.bcm.edu	37	1	116206833	116206833	+	Silent	SNP	G	G	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr1:116206833G>T	ENST00000355485.2	+	4	1027	c.756G>T	c.(754-756)ctG>ctT	p.L252L	VANGL1_ENST00000310260.3_Silent_p.L252L|VANGL1_ENST00000369509.1_Silent_p.L252L|VANGL1_ENST00000369510.4_Silent_p.L250L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	252					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGTTCACGCTGCAGGTGGTCC	0.577																																																0													60	57	58					1																	116206833		2203	4300	6503	SO:0001819	synonymous_variant	81839			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.756G>T	chr1.hg19:g.116206833G>T			Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Silent	SNP	ENST00000355485.2	hg19	CCDS883.1																																																																																				0.577	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			T	116206833	G	T	116206833	2	4	16	1	0	0	0	0	0	0	0	1	17124	1306	46	4		4	VANGL1	1	116206833	Silent	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10	20883833	116206833	133043788	4	1127											
LCE2B	26239	hgsc.bcm.edu	37	1	152659505	152659505	+	Silent	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr1:152659505C>T	ENST00000368780.3	+	2	240	c.186C>T	c.(184-186)ggC>ggT	p.G62G	LCE2B_ENST00000417924.2_Silent_p.G62G	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	62	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGGGGGCTGCTGCAACT	0.662																																																0													89	105	99					1																	152659505		2203	4300	6503	SO:0001819	synonymous_variant	26239			BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.186C>T	chr1.hg19:g.152659505C>T			Q5TA80	Silent	SNP	ENST00000368780.3	hg19	CCDS1020.1																																																																																				0.662	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		T	152659505	C	T	152659505	2	4	16	1	0	0	0	0	0	0	0	1	8668	784	28	2		2	LCE2B	1	152659505	Silent	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	36452672	152659505	96591116	5	1128											
ISG20L2	81875	hgsc.bcm.edu	37	1	156696838	156696838	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr1:156696838T>C	ENST00000313146.6	-	1	1389	c.607A>G	c.(607-609)Att>Gtt	p.I203V	ISG20L2_ENST00000472824.2_5'Flank|RRNAD1_ENST00000524343.1_5'Flank|ISG20L2_ENST00000368219.1_Missense_Mutation_p.I203V|RRNAD1_ENST00000368218.4_5'Flank|RRNAD1_ENST00000368216.4_5'Flank	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	203	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGTTGACAATGCTACATCGA	0.527											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													187	148	161					1																	156696838		2203	4300	6503	SO:0001583	missense	81875			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.607A>G	chr1.hg19:g.156696838T>C	ENSP00000323424:p.Ile203Val	1780	D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	hg19	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.864162	0.32977	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.24538	1.85;1.85	5.17	5.17	0.71159	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.097133	0.50627	D	0.000111	T	0.13927	0.0337	N	0.16833	0.445	0.43494	D	0.995738	B	0.27910	0.193	B	0.42462	0.388	T	0.19289	-1.0310	10	0.38643	T	0.18	.	13.9797	0.64297	0.0:0.0:0.0:1.0	.	203	Q9H9L3	I20L2_HUMAN	V	203	ENSP00000323424:I203V;ENSP00000357202:I203V	ENSP00000323424:I203V	I	-	1	0	ISG20L2	154963462	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	1.502000	0.35704	2.175000	0.68902	0.533000	0.62120	ATT		0.527	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		C	156696838	T	C	156696838	3	2	16	1	0	0	0	0	1	0	0	0	7857	1464	51	3	466	3	ISG20L2	1	156696838	Missense_Mutation	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10	4037333	156696838	92553783	6	1129											
SMG7	9887	hgsc.bcm.edu	37	1	183520232	183520232	+	Silent	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr1:183520232C>T	ENST00000347615.2	+	21	3326	c.3207C>T	c.(3205-3207)agC>agT	p.S1069S	SMG7_ENST00000367537.3_Silent_p.S1102S|SMG7_ENST00000515829.2_Silent_p.S1023S|SMG7_ENST00000507469.1_Silent_p.S1073S|SMG7_ENST00000456731.2_Silent_p.S981S|SMG7_ENST00000508461.1_Silent_p.S1077S	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1069					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCTCTGAGAGCAGTTGGCATC	0.493																																																0													81	74	76					1																	183520232		2203	4300	6503	SO:0001819	synonymous_variant	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3207C>T	chr1.hg19:g.183520232C>T			B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	hg19	CCDS1355.1																																																																																				0.493	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		T	183520232	C	T	183520232	2	4	16	1	0	0	0	0	0	0	0	1	14804	709	25	2		2	SMG7	1	183520232	Silent	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	26823394	183520232	65730389	7	1130											
DHX57	90957	hgsc.bcm.edu	37	2	39050399	39050399	+	Silent	SNP	T	T	C			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr2:39050399T>C	ENST00000295373.6	-	17	3153	c.3027A>G	c.(3025-3027)ttA>ttG	p.L1009L		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1009	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TAAACATCTCTAAAATTTTAA	0.343																																					Melanoma(191;1090 2095 4375 23729 47341)											0													40	43	42					2																	39050399		2203	4300	6503	SO:0001819	synonymous_variant	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3027A>G	chr2.hg19:g.39050399T>C			A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	hg19	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	T	3.584	-0.084978	0.07097	.	.	ENSG00000163214	ENST00000452978	.	.	.	5.62	-2.77	0.05877	.	.	.	.	.	T	0.63581	0.2523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62530	-0.6835	4	.	.	.	.	13.7596	0.62956	0.0:0.7451:0.0:0.2549	.	.	.	.	G	333	.	.	R	-	1	2	DHX57	38903903	1.000000	0.71417	0.979000	0.43373	0.432000	0.31715	1.023000	0.30065	-0.415000	0.07484	-0.411000	0.06167	AGA		0.343	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		C	39050399	T	C	39050399	2	2	16	1	0	0	0	0	0	0	0	1	4515	1519	53	3		3	DHX57	2	39050399	Silent	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10		39050399	204148974	8	1131											
THADA	63892	hgsc.bcm.edu	37	2	43519255	43519255	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr2:43519255G>C	ENST00000405006.4	-	33	5276	c.4925C>G	c.(4924-4926)gCt>gGt	p.A1642G	THADA_ENST00000415080.2_Missense_Mutation_p.A1323G|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.A1642G	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1642										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTCATTGGAAGCAATATCCAT	0.488																																																0													51	56	55					2																	43519255		1955	4146	6101	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4925C>G	chr2.hg19:g.43519255G>C	ENSP00000385995:p.Ala1642Gly		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	hg19	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.606563|4.606563	0.87157|0.87157	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.18502|.	2.48;2.21;2.48|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.320498|.	0.28659|.	N|.	0.014574|.	T|T	0.56746|0.56746	0.2006|0.2006	L|L	0.34521|0.34521	1.04|1.04	0.36371|0.36371	D|D	0.86129|0.86129	D;D|.	0.69078|.	0.997;0.991|.	D;P|.	0.72338|.	0.977;0.793|.	T|T	0.60900|0.60900	-0.7171|-0.7171	10|5	0.35671|.	T|.	0.21|.	-12.1636|-12.1636	15.7003|15.7003	0.77536|0.77536	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1569;1642|.	B6ZDQ0;Q6YHU6|.	.;THADA_HUMAN|.	G|V	1642;1569;1323;1642|882	ENSP00000386088:A1642G;ENSP00000416048:A1323G;ENSP00000385995:A1642G|.	ENSP00000349464:A1569G|.	A|L	-|-	2|1	0|0	THADA|THADA	43372759|43372759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.752000|4.752000	0.62176|0.62176	2.421000|2.421000	0.82119|0.82119	0.644000|0.644000	0.83932|0.83932	GCT|CTT		0.488	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		C	43519255	G	C	43519255	3	2	16	1	0	0	0	0	1	0	0	0	15845	971	34	4	960	4	THADA	2	43519255	Missense_Mutation	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10	4468856	43519255	199680118	9	1132											
CWC22	57703	hgsc.bcm.edu	37	2	180842978	180842978	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr2:180842978T>G	ENST00000410053.3	-	6	819	c.520A>C	c.(520-522)Aac>Cac	p.N174H	CWC22_ENST00000295749.6_Missense_Mutation_p.N174H	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	174	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTGGAAATGTTGACTTTGTTG	0.308																																																0													69	66	67					2																	180842978		1799	4069	5868	SO:0001583	missense	57703				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.520A>C	chr2.hg19:g.180842978T>G	ENSP00000387006:p.Asn174His		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	hg19	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569299	0.86439	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.22945	1.93;1.93;1.93	5.87	5.87	0.94306	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74680	-0.3584	10	0.87932	D	0	-26.3331	15.4442	0.75216	0.0:0.0:0.0:1.0	.	174	Q9HCG8	CWC22_HUMAN	H	174	ENSP00000387006:N174H;ENSP00000295749:N174H;ENSP00000384159:N174H	ENSP00000295749:N174H	N	-	1	0	CWC22	180551223	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.806000	0.86020	2.239000	0.73571	0.528000	0.53228	AAC		0.308	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		G	180842978	T	G	180842978	3	3	16	1	0	0	0	0	1	0	0	0	4070	1812	63	5	2266	5	CWC22	2	180842978	Missense_Mutation	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10	137323723	180842978	62356395	10	1133											
IL17RC	84818	hgsc.bcm.edu	37	3	9974800	9974800	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr3:9974800G>C	ENST00000295981.3	+	19	2117	c.1899G>C	c.(1897-1899)tgG>tgC	p.W633C	IL17RC_ENST00000383812.4_Missense_Mutation_p.W547C|IL17RC_ENST00000416074.2_Missense_Mutation_p.W388C|IL17RC_ENST00000455057.1_Missense_Mutation_p.W530C|IL17RC_ENST00000403601.3_Missense_Mutation_p.W562C|IL17RC_ENST00000498214.1_3'UTR|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000452070.1_5'Flank|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000413608.1_Missense_Mutation_p.W549C|CRELD1_ENST00000383811.3_5'Flank|CRELD1_ENST00000397170.3_5'Flank	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	633	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGTGGCTTGGTTTCACGCGC	0.711											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													17	17	17					3																	9974800		2193	4286	6479	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1899G>C	chr3.hg19:g.9974800G>C	ENSP00000295981:p.Trp633Cys	661	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	hg19	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834602	0.50951	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	4.97	3.16	0.36331	SEFIR (1);	0.000000	0.64402	D	0.000001	T	0.64594	0.2612	M	0.62723	1.935	0.52099	D	0.999946	D;B;B;D;D;B;D;D	0.89917	1.0;0.129;0.129;1.0;1.0;0.105;1.0;1.0	D;B;B;D;D;B;D;D	0.97110	0.999;0.114;0.114;1.0;1.0;0.069;0.999;0.999	T	0.62992	-0.6736	10	0.72032	D	0.01	-12.9366	6.6131	0.22763	0.093:0.0:0.7317:0.1753	.	388;530;532;549;388;547;633;562	F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;I17RC_HUMAN;.	C	547;633;562;388;530;549	ENSP00000373323:W547C;ENSP00000295981:W633C;ENSP00000384969:W562C;ENSP00000395315:W388C;ENSP00000407894:W530C;ENSP00000396064:W549C	ENSP00000295981:W633C	W	+	3	0	IL17RC	9949800	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.080000	0.64437	0.496000	0.27904	-0.310000	0.09108	TGG		0.711	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		C	9974800	G	C	9974800	3	2	16	1	0	0	0	0	1	0	0	0	7643	1270	44	4	1973	4	IL17RC	3	9974800	Missense_Mutation	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10		9974800	188047630	11	1134											
TIGIT	201633	hgsc.bcm.edu	37	3	114026767	114026767	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr3:114026767T>G	ENST00000486257.1	+	5	781	c.524T>G	c.(523-525)gTg>gGg	p.V175G	TIGIT_ENST00000383671.3_Missense_Mutation_p.V175G|TIGIT_ENST00000481065.1_Missense_Mutation_p.V242G|TIGIT_ENST00000496848.1_3'UTR			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	175					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						ATCCATTCTGTGGAAGGTGAC	0.483																																																0													76	80	79					3																	114026767		2203	4300	6503	SO:0001583	missense	201633			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"Immunoglobulin superfamily / V-set domain containing"	26838	protein-coding gene	gene with protein product		612859	"V-set and immunoglobulin domain containing 9", "V-set and transmembrane domain containing 3"	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.524T>G	chr3.hg19:g.114026767T>G	ENSP00000419085:p.Val175Gly		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	hg19	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	T	3.429	-0.116496	0.06838	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.58210	0.35;0.36;0.42;0.42;0.35	4.21	-1.81	0.07882	.	0.851711	0.10155	N	0.709140	T	0.27832	0.0685	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16129	-1.0413	10	0.22706	T	0.39	0.8948	4.6147	0.12420	0.0:0.3506:0.1677:0.4817	.	175	Q495A1	TIGIT_HUMAN	G	154;242;175;175;154	ENSP00000418917:V154G;ENSP00000420552:V242G;ENSP00000419085:V175G;ENSP00000373167:V175G;ENSP00000419706:V154G	ENSP00000373167:V175G	V	+	2	0	TIGIT	115509457	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.300000	0.08243	-0.325000	0.08577	0.533000	0.62120	GTG		0.483	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		G	114026767	T	G	114026767	3	3	16	1	0	0	0	0	1	0	0	0	15907	1696	59	5	538	5	TIGIT	3	114026767	Missense_Mutation	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10	104051967	114026767	83995663	12	1135											
C3orf1	51300	hgsc.bcm.edu	37	3	119222809	119222809	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr3:119222809A>G	ENST00000494664.1	+	4	660	c.458A>G	c.(457-459)aAc>aGc	p.N153S	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	153						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGCACAGTGAACACTAGTCTG	0.323																																																0													141	140	141					3																	119222809		2203	4300	6503	SO:0001583	missense	51300			AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"chromosome 3 open reading frame 1"	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.458A>G	chr3.hg19:g.119222809A>G	ENSP00000418803:p.Asn153Ser		D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	hg19	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.808491	0.00606	.	.	ENSG00000113845	ENST00000494664;ENST00000466984	T;T	0.39229	1.56;1.09	4.74	0.905	0.19307	.	0.155895	0.56097	N	0.000037	T	0.15696	0.0378	N	0.11427	0.14	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.28106	-1.0054	10	0.02654	T	1	-8.7525	4.7175	0.12903	0.6328:0.1645:0.2027:0.0	.	153	Q9NPL8	TIDC1_HUMAN	S	153;68	ENSP00000418803:N153S;ENSP00000420122:N68S	ENSP00000264244:N153S	N	+	2	0	TIMMDC1	120705499	1.000000	0.71417	0.995000	0.50966	0.007000	0.05969	2.437000	0.44828	0.004000	0.14682	-1.447000	0.01057	AAC		0.323	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		G	119222809	A	G	119222809	3	3	16	1	0	0	0	0	1	0	0	0	2208	43	2	3	472	3	C3orf1	3	119222809	Missense_Mutation	SNP	A	TCGA-2Z-A9JM-01A-12D-A42J-10	5196042	119222809	78799621	13	1136											
ALDH1L1	10840	hgsc.bcm.edu	37	3	125854448	125854448	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr3:125854448C>T	ENST00000393434.2	-	12	1751	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A478T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A468T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A367T|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A468T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	468	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCATCCTTGGCTGCGGCCACT	0.602																																																0													143	111	122					3																	125854448		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1402G>A	chr3.hg19:g.125854448C>T	ENSP00000377083:p.Ala468Thr		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	hg19	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431432	0.62844	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	4.16	4.16	0.48862	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.133532	0.47455	D	0.000221	D	0.96987	0.9016	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.76575	0.969;0.988;0.955	D	0.98072	1.0399	10	0.87932	D	0	.	14.3504	0.66697	0.0:1.0:0.0:0.0	.	367;520;468	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	T	478;468;367;468;468	ENSP00000273450:A478T;ENSP00000420293:A468T;ENSP00000395881:A367T;ENSP00000377083:A468T;ENSP00000377081:A468T	ENSP00000273450:A478T	A	-	1	0	ALDH1L1	127337138	1.000000	0.71417	0.054000	0.19295	0.003000	0.03518	6.729000	0.74775	2.331000	0.79229	0.460000	0.39030	GCC		0.602	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		T	125854448	C	T	125854448	3	4	16	1	0	0	0	0	1	0	0	0	494	797	28	2	1354	2	ALDH1L1	3	125854448	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	6631639	125854448	72167982	14	1137											
CCRL1	51554	hgsc.bcm.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	29					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378																																																1	Substitution - coding silent(1)	endometrium(1)											58	58	58					3																	132319326		2203	4300	6503	SO:0001819	synonymous_variant	51554			AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.85C>T	chr3.hg19:g.132319326C>T			B2R9U7	Silent	SNP	ENST00000249887.2	hg19	CCDS3075.1																																																																																				0.378	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		T	132319326	C	T	132319326	2	4	16	1	0	0	0	0	0	0	0	1	2951	564	20	2		2	CCRL1	3	132319326	Silent	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	6464878	132319326	65703104	15	1138											
RASSF6	166824	hgsc.bcm.edu	37	4	74459297	74459297	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr4:74459297T>A	ENST00000342081.3	-	4	384	c.254A>T	c.(253-255)aAa>aTa	p.K85I	RASSF6_ENST00000307439.5_Missense_Mutation_p.K53I|RASSF6_ENST00000335049.5_Missense_Mutation_p.K41I|RASSF6_ENST00000395777.2_Missense_Mutation_p.K53I	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	85					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AACAATTAGTTTGCCATCTTC	0.338																																																0													102	103	103					4																	74459297		2203	4300	6503	SO:0001583	missense	166824			AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.254A>T	chr4.hg19:g.74459297T>A	ENSP00000340578:p.Lys85Ile		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	hg19	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297478	0.40694	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.42	5.42	0.78866	.	0.814802	0.11816	N	0.526735	T	0.53738	0.1815	L	0.38175	1.15	0.09310	N	1	D;P;P	0.54397	0.966;0.797;0.943	P;B;B	0.50708	0.648;0.446;0.352	T	0.48647	-0.9017	10	0.62326	D	0.03	-0.7807	11.8484	0.52397	0.0:0.0:0.0:1.0	.	41;53;85	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	I	53;85;53;41	ENSP00000303877:K53I;ENSP00000340578:K85I;ENSP00000379123:K53I;ENSP00000335582:K41I	ENSP00000303877:K53I	K	-	2	0	RASSF6	74678161	0.558000	0.26554	0.022000	0.16811	0.609000	0.37215	2.314000	0.43743	2.071000	0.62044	0.443000	0.29094	AAA		0.338	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		A	74459297	T	A	74459297	3	1	16	1	0	0	0	0	1	0	0	0	13096	1841	64	5	887	5	RASSF6	4	74459297	Missense_Mutation	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10		74459297	116694979	16	1139											
KIAA0947	23379	hgsc.bcm.edu	37	5	5469021	5469021	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr5:5469021A>G	ENST00000296564.7	+	15	6364	c.6142A>G	c.(6142-6144)Aaa>Gaa	p.K2048E		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2048					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GGTGATTAATAAAGCAATGCA	0.353																																																0													124	120	121					5																	5469021		1853	4090	5943	SO:0001583	missense	23379																														ENST00000296564.7:c.6142A>G	chr5.hg19:g.5469021A>G	ENSP00000296564:p.Lys2048Glu		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	hg19	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165436	0.38217	.	.	ENSG00000164151	ENST00000296564	T	0.12039	2.72	5.86	3.45	0.39498	.	.	.	.	.	T	0.09949	0.0244	L	0.31926	0.97	0.21782	N	0.999541	B	0.25955	0.138	B	0.21151	0.033	T	0.32052	-0.9921	9	0.33940	T	0.23	3.9123	6.658	0.22998	0.7625:0.1549:0.0826:0.0	.	2048	Q9Y2F5	K0947_HUMAN	E	2048	ENSP00000296564:K2048E	ENSP00000296564:K2048E	K	+	1	0	KIAA0947	5522021	1.000000	0.71417	0.004000	0.12327	0.977000	0.68977	2.140000	0.42159	0.464000	0.27142	0.528000	0.53228	AAA		0.353	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			G	5469021	A	G	5469021	3	3	16	1	0	0	0	0	1	0	0	0	8204	363	13	3	6200	3	KIAA0947	5	5469021	Missense_Mutation	SNP	A	TCGA-2Z-A9JM-01A-12D-A42J-10		5469021	175446239	17	1140											
DNAH5	1767	hgsc.bcm.edu	37	5	13894791	13894791	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr5:13894791T>A	ENST00000265104.4	-	16	2503	c.2399A>T	c.(2398-2400)gAg>gTg	p.E800V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	800	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAAATAAGCCTCAATATTCAG	0.413									Kartagener syndrome																																							0													129	122	125					5																	13894791		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2399A>T	chr5.hg19:g.13894791T>A	ENSP00000265104:p.Glu800Val		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.301659	0.23736	.	.	ENSG00000039139	ENST00000265104	T	0.57752	0.38	5.23	4.07	0.47477	Dynein heavy chain, domain-1 (1);	0.151463	0.56097	D	0.000021	T	0.49881	0.1583	M	0.66939	2.045	0.36165	D	0.848377	B	0.14805	0.011	B	0.22386	0.039	T	0.53408	-0.8443	10	0.38643	T	0.18	.	10.1183	0.42605	0.0:0.0805:0.0:0.9194	.	800	Q8TE73	DYH5_HUMAN	V	800	ENSP00000265104:E800V	ENSP00000265104:E800V	E	-	2	0	DNAH5	13947791	0.998000	0.40836	0.685000	0.30070	0.043000	0.13939	2.905000	0.48727	0.843000	0.35070	0.402000	0.26972	GAG		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13894791	T	A	13894791	3	1	16	1	0	0	0	0	1	0	0	0	4606	1551	54	5	11731	5	DNAH5	5	13894791	Missense_Mutation	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10	8425770	13894791	167020469	18	1141											
SPATS1	221409	hgsc.bcm.edu	37	6	44320474	44320474	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr6:44320474A>G	ENST00000288390.2	+	2	498	c.151A>G	c.(151-153)Agt>Ggt	p.S51G	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Missense_Mutation_p.S51G			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	51										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTAATTGCAGTGATTTTCT	0.358																																																0													116	108	111					6																	44320474		2203	4300	6503	SO:0001583	missense	221409			AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.151A>G	chr6.hg19:g.44320474A>G	ENSP00000424400:p.Ser51Gly		Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	hg19	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	A	6.330	0.428946	0.11987	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.48836	0.8;0.8	3.92	-0.0235	0.13943	.	1.491510	0.04356	N	0.356554	T	0.12305	0.0299	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11842	-1.0571	10	0.12430	T	0.62	.	6.2149	0.20649	0.628:0.0:0.372:0.0	.	51	Q496A3	SPAS1_HUMAN	G	51	ENSP00000437552:S51G;ENSP00000424400:S51G	ENSP00000424400:S51G	S	+	1	0	SPATS1	44428452	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.147000	0.16202	0.003000	0.14656	-0.290000	0.09829	AGT		0.358	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		G	44320474	A	G	44320474	3	3	16	1	0	0	0	0	1	0	0	0	15023	188	7	3	157	3	SPATS1	6	44320474	Missense_Mutation	SNP	A	TCGA-2Z-A9JM-01A-12D-A42J-10		44320474	126794593	19	1142											
CD109	135228	hgsc.bcm.edu	37	6	74502420	74502421	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr6:74502420_74502421insAC	ENST00000287097.5	+	23	2885_2886	c.2773_2774insAC	c.(2773-2775)aacfs	p.N925fs	CD109_ENST00000474094.1_3'UTR|CD109_ENST00000422508.2_Frame_Shift_Ins_p.N848fs|CD109_ENST00000437994.2_Frame_Shift_Ins_p.N925fs			Q6YHK3	CD109_HUMAN	CD109 molecule	925					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGTGAACAGAACATGATAAAT	0.366																																																0																																										SO:0001589	frameshift_variant	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2774_2775dupAC	chr6.hg19:g.74502421_74502422dupAC	ENSP00000287097:p.Asn925fs		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Frame_Shift_Ins	INS	ENST00000287097.5	hg19	CCDS4982.1																																																																																				0.366	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		AC	74502421	-	AC	74502420	7	5	16	1	0	1	1	0	0	0	0	0	2965	246	9	0	2863	0	CD109	6	74502420	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JM-01A-12D-A42J-10	30181946	74502420	96612647	20	1143											
SLC35A1	10559	hgsc.bcm.edu	37	6	88187175	88187175	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr6:88187175G>T	ENST00000369552.4	+	2	139	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	SLC35A1_ENST00000464978.1_3'UTR|C6orf165_ENST00000507897.1_3'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369557.5_Missense_Mutation_p.D38Y|SLC35A1_ENST00000544441.1_5'UTR|SLC35A1_ENST00000369556.3_Missense_Mutation_p.D38Y	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	38					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAGGACATCAGACAAAGAACT	0.368																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)											0													109	103	105					6																	88187175		2203	4300	6503	SO:0001583	missense	10559			D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"Solute carriers"	11021	protein-coding gene	gene with protein product		605634	"solute carrier family 35 (UDP-galactose transporter), member 1"			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.112G>T	chr6.hg19:g.88187175G>T	ENSP00000358565:p.Asp38Tyr		Q5W1L8	Missense_Mutation	SNP	ENST00000369552.4	hg19	CCDS5010.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284666	0.40394	.	.	ENSG00000164414	ENST00000369556;ENST00000369552;ENST00000429605;ENST00000369557;ENST00000369544	T	0.47869	0.83	5.62	3.78	0.43462	.	0.437967	0.23010	U	0.052966	T	0.17280	0.0415	L	0.43923	1.385	0.18873	N	0.999986	P;P	0.39157	0.533;0.662	B;B	0.29942	0.109;0.109	T	0.04153	-1.0973	10	0.72032	D	0.01	-14.2719	8.7393	0.34547	0.2397:0.0:0.7603:0.0	.	38;38	P78382;Q5W1L8	S35A1_HUMAN;.	Y	38;38;38;38;19	ENSP00000358565:D38Y	ENSP00000358557:D19Y	D	+	1	0	SLC35A1	88243894	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	2.735000	0.47377	0.666000	0.31087	0.655000	0.94253	GAC		0.368	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041446.1			T	88187175	G	T	88187175	3	4	16	1	0	0	0	0	1	0	0	0	14576	942	33	4	118	4	SLC35A1	6	88187175	Missense_Mutation	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10	13684755	88187175	82927892	21	1144											
NRCAM	4897	hgsc.bcm.edu	37	7	107823350	107823350	+	Silent	SNP	G	G	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr7:107823350G>A	ENST00000425651.2	-	20	2318	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F	NRCAM_ENST00000413765.2_Silent_p.F754F|NRCAM_ENST00000379022.4_Silent_p.F773F|NRCAM_ENST00000379028.3_Silent_p.F773F|NRCAM_ENST00000379024.4_Silent_p.F754F|NRCAM_ENST00000351718.4_Silent_p.F757F	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	773	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CATTAGATTCGAAACCATTCA	0.418																																																0													60	57	58					7																	107823350		2203	4300	6503	SO:0001819	synonymous_variant	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2319C>T	chr7.hg19:g.107823350G>A			A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	hg19	CCDS47686.1																																																																																				0.418	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		A	107823350	G	A	107823350	2	1	16	1	0	0	0	0	0	0	0	1	10646	1049	37	1		1	NRCAM	7	107823350	Silent	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10		107823350	51315313	22	1145											
FBXO16	157574	hgsc.bcm.edu	37	8	28331306	28331306	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr8:28331306C>T	ENST00000380254.2	-	3	266	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	FBXO16_ENST00000519471.2_Missense_Mutation_p.A40T|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Intron|FBXO16_ENST00000518734.1_Intron	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	40										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CCAAGCAGGGCTCTTCTTTCT	0.303																																																0													57	63	61					8																	28331306		2202	4297	6499	SO:0001583	missense	157574			AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.118G>A	chr8.hg19:g.28331306C>T	ENSP00000369604:p.Ala40Thr		Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	hg19	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.608040	0.66558	.	.	ENSG00000214050	ENST00000380254;ENST00000517673;ENST00000519471	T;T	0.43688	2.43;0.94	5.86	4.81	0.61882	.	0.593369	0.15469	U	0.260724	T	0.29093	0.0723	N	0.19112	0.55	0.26393	N	0.976548	B	0.23316	0.083	B	0.21360	0.034	T	0.06481	-1.0824	10	0.19590	T	0.45	-36.1552	14.9653	0.71188	0.0:0.9203:0.0:0.0797	.	40	Q8IX29	FBX16_HUMAN	T	40	ENSP00000369604:A40T;ENSP00000429390:A40T	ENSP00000369604:A40T	A	-	1	0	FBXO16	28387225	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	2.002000	0.40835	2.771000	0.95319	0.563000	0.77884	GCC		0.303	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		T	28331306	C	T	28331306	3	4	16	1	0	0	0	0	1	0	0	0	5731	797	28	2	788	2	FBXO16	8	28331306	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10		28331306	118032716	23	1146											
CCL27	10850	hgsc.bcm.edu	37	9	34662362	34662362	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr9:34662362G>A	ENST00000259631.4	-	2	180	c.122C>T	c.(121-123)cCa>cTa	p.P41L	CCL27_ENST00000557161.1_5'UTR|RP11-195F19.30_ENST00000564224.1_RNA	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	41					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GTCTGAGAGTGGCTTTCGGTA	0.577																																																0													75	64	68					9																	34662362		2203	4300	6503	SO:0001583	missense	10850			AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"Chemokine ligands", "Endogenous ligands"	10626	protein-coding gene	gene with protein product	"CC chemokine ILC", "IL-11 Ralpha-locus chemokine", "cutaneous T-cell attracting chemokine"	604833	"small inducible cytokine subfamily A (Cys-Cys), member 27"	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.122C>T	chr9.hg19:g.34662362G>A	ENSP00000259631:p.Pro41Leu			Missense_Mutation	SNP	ENST00000259631.4	hg19	CCDS6569.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314771	0.40996	.	.	ENSG00000213927	ENST00000259631	T	0.05139	3.49	5.37	3.42	0.39159	Chemokine interleukin-8-like domain (2);	0.241243	0.29676	N	0.011493	T	0.05273	0.0140	L	0.33485	1.01	0.40928	D	0.984365	P	0.37708	0.606	B	0.38985	0.287	T	0.29397	-1.0013	10	0.40728	T	0.16	-8.2034	5.6242	0.17473	0.0979:0.0:0.7064:0.1957	.	41	Q9Y4X3	CCL27_HUMAN	L	41	ENSP00000259631:P41L	ENSP00000259631:P41L	P	-	2	0	CCL27	34652362	0.989000	0.36119	1.000000	0.80357	0.842000	0.47809	1.349000	0.33998	2.673000	0.90976	0.557000	0.71058	CCA		0.577	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	NM_006664		A	34662362	G	A	34662362	3	1	16	1	0	0	0	0	1	0	0	0	2901	1348	47	2	224	2	CCL27	9	34662362	Missense_Mutation	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10		34662362	106551069	24	1147											
ASAH2	56624	hgsc.bcm.edu	37	10	52003053	52003053	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr10:52003053C>T	ENST00000395526.4	-	3	418	c.419G>A	c.(418-420)cGt>cAt	p.R140H	ASAH2_ENST00000443575.1_5'Flank|ASAH2_ENST00000329428.6_Missense_Mutation_p.R121H|ASAH2_ENST00000447815.1_Missense_Mutation_p.R140H	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	140					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						GATGAAGGCACGACTGTATAG	0.507																																																0													222	184	197					10																	52003053		2203	4300	6503	SO:0001583	missense	56624			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.419G>A	chr10.hg19:g.52003053C>T	ENSP00000378897:p.Arg140His		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	hg19	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717778	0.89205	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.59906	0.23;0.23;0.23	5.82	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.81484	0.4832	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86317	0.1690	10	0.87932	D	0	.	13.911	0.63866	0.1533:0.8467:0.0:0.0	.	140;140	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	H	140;140;121	ENSP00000378897:R140H;ENSP00000388206:R140H;ENSP00000329886:R121H	ENSP00000329886:R121H	R	-	2	0	ASAH2	51673059	1.000000	0.71417	0.985000	0.45067	0.785000	0.44390	7.167000	0.77562	1.413000	0.46997	0.557000	0.71058	CGT		0.507	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		T	52003053	C	T	52003053	3	4	16	1	0	0	0	0	1	0	0	0	1007	536	19	1	1995	1	ASAH2	10	52003053	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10		52003053	83531694	25	1148											
PPRC1	23082	hgsc.bcm.edu	37	10	103900243	103900243	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr10:103900243C>T	ENST00000278070.2	+	5	2017	c.1978C>T	c.(1978-1980)Ccg>Tcg	p.P660S	PPRC1_ENST00000413464.2_Missense_Mutation_p.P660S|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGATGCTGTCCCGTCTGGCCC	0.547																																																0													96	81	86					10																	103900243		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1978C>T	chr10.hg19:g.103900243C>T	ENSP00000278070:p.Pro660Ser		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	hg19	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489648	0.26686	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.20598	2.07;2.06	4.59	1.4	0.22301	.	1.584220	0.03763	N	0.258417	T	0.14570	0.0352	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13594	0.008;0.005;0.008	B;B;B	0.10450	0.003;0.005;0.003	T	0.26677	-1.0096	10	0.44086	T	0.13	.	4.7029	0.12835	0.0:0.5724:0.1946:0.233	.	660;540;660	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	S	660	ENSP00000278070:P660S;ENSP00000399743:P660S	ENSP00000278070:P660S	P	+	1	0	PPRC1	103890233	0.024000	0.19004	0.001000	0.08648	0.096000	0.18686	0.673000	0.25203	0.161000	0.19458	-0.291000	0.09656	CCG		0.547	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		T	103900243	C	T	103900243	3	4	16	1	0	0	0	0	1	0	0	0	12415	623	22	2	1996	2	PPRC1	10	103900243	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	51897190	103900243	31634504	26	1149											
MUC5B	727897	hgsc.bcm.edu	37	11	1272661	1272678	+	In_Frame_Del	DEL	CCGAGCACTATAGCCACC	CCGAGCACTATAGCCACC	-	rs201730803|rs377533930|rs372504985|rs573266996|rs201218727|rs200249076		TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	CCGAGCACTATAGCCACC	CCGAGCACTATAGCCACC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr11:1272661_1272678delCCGAGCACTATAGCCACC	ENST00000529681.1	+	31	14609_14626	c.14551_14568delCCGAGCACTATAGCCACC	c.(14551-14568)ccgagcactatagccaccdel	p.PSTIAT4851del	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_In_Frame_Del_p.PSTIAT4854del	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4851	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCACAGAGCCGAGCACTATAGCCACCGTGATGGTGC	0.624																																																0																																										SO:0001651	inframe_deletion	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14551_14568delCCGAGCACTATAGCCACC	chr11.hg19:g.1272661_1272678delCCGAGCACTATAGCCACC	ENSP00000436812:p.Pro4851_Thr4856del		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	In_Frame_Del	DEL	ENST00000529681.1	hg19	CCDS44515.2																																																																																				0.624	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		-	1272678	CCGAGCACTATAGCCACC	-	1272661	7	5	16	1	0	1	0	1	0	0	0	0	9981	739	26	0	14682	0	MUC5B	11	1272661	In_Frame_Del	DEL	CCGAGCACTATAGCCACC	TCGA-2Z-A9JM-01A-12D-A42J-10		1272661	133733855	27	1150	10	3									
MUC5B	727897	hgsc.bcm.edu	37	11	1272664	1272668	+	Frame_Shift_Del	DEL	AGCAC	AGCAC	-	rs573266996		TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	AGCAC	AGCAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr11:1272664_1272668delAGCAC	ENST00000529681.1	+	31	14612_14616	c.14554_14558delAGCAC	c.(14554-14559)agcactfs	p.ST4852fs	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Frame_Shift_Del_p.ST4855fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4852	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACAGAGCCGAGCACTATAGCCACC	0.624																																																0																																										SO:0001589	frameshift_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14554_14558delAGCAC	chr11.hg19:g.1272664_1272668delAGCAC	ENSP00000436812:p.Ser4852fs		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	ENST00000529681.1	hg19	CCDS44515.2																																																																																				0.624	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		-	1272668	AGCAC	-	1272664	7	5	16	1	0	1	0	1	0	0	0	0	9981	304	11	0	14685	0	MUC5B	11	1272664	Frame_Shift_Del	DEL	AGCAC	TCGA-2Z-A9JM-01A-12D-A42J-10	3	1272664	133733852	28	1151	10	3									
MUC5B	727897	hgsc.bcm.edu	37	11	1272670	1272678	+	In_Frame_Del	DEL	ATAGCCACC	ATAGCCACC	-	rs200249076|rs377533930|rs372504985		TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	ATAGCCACC	ATAGCCACC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr11:1272670_1272678delATAGCCACC	ENST00000529681.1	+	31	14618_14626	c.14560_14568delATAGCCACC	c.(14560-14568)atagccaccdel	p.IAT4854del	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_In_Frame_Del_p.IAT4857del	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4854	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCGAGCACTATAGCCACCGTGATGGTGC	0.627																																																0																																										SO:0001651	inframe_deletion	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14560_14568delATAGCCACC	chr11.hg19:g.1272670_1272678delATAGCCACC	ENSP00000436812:p.Ile4854_Thr4856del		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	In_Frame_Del	DEL	ENST00000529681.1	hg19	CCDS44515.2																																																																																				0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		-	1272678	ATAGCCACC	-	1272670	7	5	16	1	0	1	0	1	0	0	0	0	9981	449	16	0	14691	0	MUC5B	11	1272670	In_Frame_Del	DEL	ATAGCCACC	TCGA-2Z-A9JM-01A-12D-A42J-10	6	1272670	133733846	29	1152	10	3									
OR51B5	282763	hgsc.bcm.edu	37	11	5364556	5364556	+	Missense_Mutation	SNP	T	T	G	rs372207902|rs147062602	byFrequency	TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr11:5364556T>G	ENST00000300773.2	-	1	253	c.199A>C	c.(199-201)Aca>Cca	p.T67P	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	67					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)	p.A66fs*48(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCAGGTCTGTGGCAGCCAGC	0.542																																																1	Deletion - Frameshift(1)	upper_aerodigestive_tract(1)											44	50	48					11																	5364556		2191	4293	6484	SO:0001583	missense	282763			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"GPCR / Class A : Olfactory receptors"	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.199A>C	chr11.hg19:g.5364556T>G	ENSP00000300773:p.Thr67Pro		B2RN59	Missense_Mutation	SNP	ENST00000300773.2	hg19	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.901629	0.52227	.	.	ENSG00000242180	ENST00000300773	T	0.03004	4.08	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000714	T	0.17874	0.0429	M	0.89414	3.03	0.19300	N	0.999978	D	0.67145	0.996	D	0.65874	0.939	T	0.09037	-1.0693	10	0.87932	D	0	.	8.6339	0.33936	0.0:0.0903:0.0:0.9097	.	67	Q9H339	O51B5_HUMAN	P	67	ENSP00000300773:T67P	ENSP00000300773:T67P	T	-	1	0	OR51B5	5321132	0.000000	0.05858	0.612000	0.29024	0.641000	0.38312	0.241000	0.18065	2.017000	0.59298	0.529000	0.55759	ACA		0.542	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		G	5364556	T	G	5364556	3	3	16	1	0	0	0	0	1	0	0	0	11093	1696	59	5	743	5	OR51B5	11	5364556	Missense_Mutation	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10	4091886	5364556	129641960	30	1153	11	2									
OR51B5	282763	hgsc.bcm.edu	37	11	5364558	5364558	+	Missense_Mutation	SNP	G	G	C	rs372207902|rs147062602	byFrequency	TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr11:5364558G>C	ENST00000300773.2	-	1	251	c.197C>G	c.(196-198)gCc>gGc	p.A66G	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	66					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)	p.A66fs*48(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGTCTGTGGCAGCCAGCAT	0.542																																																1	Deletion - Frameshift(1)	upper_aerodigestive_tract(1)											45	51	49					11																	5364558		2191	4293	6484	SO:0001583	missense	282763			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"GPCR / Class A : Olfactory receptors"	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.197C>G	chr11.hg19:g.5364558G>C	ENSP00000300773:p.Ala66Gly		B2RN59	Missense_Mutation	SNP	ENST00000300773.2	hg19	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	G	6.859	0.527720	0.13127	.	.	ENSG00000242180	ENST00000300773	T	0.00551	6.65	4.76	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	0.790635	0.10593	N	0.656558	T	0.00440	0.0014	L	0.27975	0.815	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.37361	-0.9709	10	0.45353	T	0.12	.	7.7471	0.28875	0.2155:0.4492:0.3354:0.0	.	66	Q9H339	O51B5_HUMAN	G	66	ENSP00000300773:A66G	ENSP00000300773:A66G	A	-	2	0	OR51B5	5321134	0.000000	0.05858	0.203000	0.23512	0.619000	0.37552	-0.266000	0.08631	-0.037000	0.13646	-0.171000	0.13296	GCC		0.542	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		C	5364558	G	C	5364558	3	2	16	1	0	0	0	0	1	0	0	0	11093	1203	42	4	745	4	OR51B5	11	5364558	Missense_Mutation	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10	2	5364558	129641958	31	1154	11	2									
BEST1	7439	hgsc.bcm.edu	37	11	61724395	61724396	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr11:61724395_61724396insT	ENST00000378043.4	+	5	1204_1205	c.561_562insT	c.(562-564)tttfs	p.F188fs	BEST1_ENST00000526988.1_Frame_Shift_Ins_p.F82fs|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Frame_Shift_Ins_p.F188fs|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000449131.2_Frame_Shift_Ins_p.F128fs|BEST1_ENST00000378042.3_Frame_Shift_Ins_p.F128fs	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	188					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CCTGGGTGTGGTTTGCCAACCT	0.559																																																0																																										SO:0001589	frameshift_variant	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.564dupT	chr11.hg19:g.61724398_61724398dupT	ENSP00000367282:p.Phe188fs		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Frame_Shift_Ins	INS	ENST00000378043.4	hg19	CCDS31580.1																																																																																				0.559	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		T	61724396	-	T	61724395	7	5	16	1	0	1	1	0	0	0	0	0	1404	1270	44	0	575	0	BEST1	11	61724395	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JM-01A-12D-A42J-10	56359837	61724395	73282121	32	1155											
SPDYC	387778	hgsc.bcm.edu	37	11	64940189	64940189	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr11:64940189C>A	ENST00000377185.2	+	6	633	c.551C>A	c.(550-552)aCt>aAt	p.T184N	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TGGGCTTGGACTCGGGACCGG	0.667																																																0													43	45	44					11																	64940189		2201	4297	6498	SO:0001583	missense	387778			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"Speedy homologs"	32681	protein-coding gene	gene with protein product		614030	"speedy homolog C (Xenopus laevis)"			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.551C>A	chr11.hg19:g.64940189C>A	ENSP00000366390:p.Thr184Asn			Missense_Mutation	SNP	ENST00000377185.2	hg19	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865824	0.51588	.	.	ENSG00000204710	ENST00000377185	.	.	.	5.09	2.0	0.26442	.	0.251706	0.27289	N	0.020044	T	0.37237	0.0996	L	0.59436	1.845	0.09310	N	0.999995	P	0.48998	0.918	P	0.52386	0.697	T	0.17471	-1.0368	9	0.19590	T	0.45	.	4.07	0.09877	0.3344:0.4858:0.0:0.1798	.	184	Q5MJ68	SPDYC_HUMAN	N	184	.	ENSP00000366390:T184N	T	+	2	0	SPDYC	64696765	0.258000	0.24033	0.044000	0.18714	0.973000	0.67179	0.896000	0.28377	0.122000	0.18314	0.655000	0.94253	ACT		0.667	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		A	64940189	C	A	64940189	3	1	16	1	0	0	0	0	1	0	0	0	15033	565	20	4	573	4	SPDYC	11	64940189	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	3215794	64940189	70066327	33	1156											
SPTBN2	6712	hgsc.bcm.edu	37	11	66472844	66472844	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr11:66472844C>T	ENST00000533211.1	-	15	2234	c.1903G>A	c.(1903-1905)Gcc>Acc	p.A635T	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A635T|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A635T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	635					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.A635S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCAGCCGGGCCCGCCGCGCC	0.672																																																1	Substitution - Missense(1)	lung(1)											21	25	24					11																	66472844		2174	4255	6429	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1903G>A	chr11.hg19:g.66472844C>T	ENSP00000432568:p.Ala635Thr		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	hg19	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579927	0.46006	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52057	0.68;0.68;0.68	4.45	4.45	0.53987	.	0.395296	0.25277	N	0.031832	T	0.47801	0.1465	M	0.63843	1.955	0.31886	N	0.617861	P	0.47910	0.902	P	0.46208	0.507	T	0.54970	-0.8213	10	0.22706	T	0.39	.	11.2662	0.49112	0.1831:0.8169:0.0:0.0	.	635	O15020	SPTN2_HUMAN	T	635	ENSP00000432568:A635T;ENSP00000311489:A635T;ENSP00000433593:A635T	ENSP00000311489:A635T	A	-	1	0	SPTBN2	66229420	0.350000	0.24878	0.983000	0.44433	0.720000	0.41350	2.898000	0.48672	2.294000	0.77228	0.491000	0.48974	GCC		0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		T	66472844	C	T	66472844	3	4	16	1	0	0	0	0	1	0	0	0	15125	739	26	2	5365	2	SPTBN2	11	66472844	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	1532655	66472844	68533672	34	1157											
FKBP4	2288	hgsc.bcm.edu	37	12	2907930	2907930	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr12:2907930T>C	ENST00000001008.4	+	4	639	c.452T>C	c.(451-453)aTt>aCt	p.I151T	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	151					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			GGCGGAATCATTCGCAGAATA	0.488																																																0													162	146	151					12																	2907930		2203	4300	6503	SO:0001583	missense	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.452T>C	chr12.hg19:g.2907930T>C	ENSP00000001008:p.Ile151Thr		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	hg19	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188948	0.57909	.	.	ENSG00000004478	ENST00000001008	D	0.82167	-1.58	4.87	4.87	0.63330	.	0.154283	0.56097	D	0.000027	T	0.80149	0.4570	L	0.41236	1.265	0.58432	D	0.999998	B	0.30634	0.288	B	0.39904	0.313	T	0.77324	-0.2630	10	0.33141	T	0.24	-16.3236	13.3003	0.60321	0.0:0.0:0.0:1.0	.	151	Q02790	FKBP4_HUMAN	T	151	ENSP00000001008:I151T	ENSP00000001008:I151T	I	+	2	0	FKBP4	2778191	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.868000	0.69605	1.819000	0.53055	0.460000	0.39030	ATT		0.488	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			C	2907930	T	C	2907930	3	2	16	1	0	0	0	0	1	0	0	0	5912	1493	52	3	466	3	FKBP4	12	2907930	Missense_Mutation	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10		2907930	130943965	35	1158											
ITPR2	3709	hgsc.bcm.edu	37	12	26572030	26572030	+	Silent	SNP	C	C	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr12:26572030C>A	ENST00000381340.3	-	50	7478	c.7062G>T	c.(7060-7062)ctG>ctT	p.L2354L	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2354					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCATGCAAACCAGGACATACG	0.468																																																0													85	93	91					12																	26572030		2027	4191	6218	SO:0001819	synonymous_variant	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7062G>T	chr12.hg19:g.26572030C>A			O94773	Silent	SNP	ENST00000381340.3	hg19	CCDS41764.1																																																																																				0.468	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26572030	C	A	26572030	2	1	16	1	0	0	0	0	0	0	0	1	7923	581	21	4		4	ITPR2	12	26572030	Silent	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	23664100	26572030	107279865	36	1159											
AMIGO2	91523	hgsc.bcm.edu	37	12	47471993	47471993	+	5'Flank	SNP	C	C	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr12:47471993C>G	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.D265H|AMIGO2_ENST00000266581.4_Missense_Mutation_p.D265H|AMIGO2_ENST00000321382.3_Missense_Mutation_p.D265H|AMIGO2_ENST00000550413.1_Missense_Mutation_p.D265H			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TGCCTGGAGTCAGACCACAGG	0.478																																																0													78	75	76					12																	47471993		2203	4300	6503	SO:0001631	upstream_gene_variant	347902			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		chr12.hg19:g.47471993C>G	Exception_encountered		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	hg19	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523963	0.27299	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02525	4.26;4.26;4.26;4.26	4.66	3.77	0.43336	Cysteine-rich flanking region, C-terminal (1);	0.521481	0.20836	N	0.084792	T	0.03827	0.0108	L	0.38175	1.15	0.45762	D	0.998651	B	0.22909	0.077	B	0.30782	0.12	T	0.49021	-0.8982	10	0.35671	T	0.21	-3.9557	12.6119	0.56556	0.0:0.9173:0.0:0.0827	.	265	Q86SJ2	AMGO2_HUMAN	H	265	ENSP00000266581:D265H;ENSP00000449034:D265H;ENSP00000406020:D265H;ENSP00000320848:D265H	ENSP00000266581:D265H	D	-	1	0	AMIGO2	45758260	0.975000	0.34042	0.044000	0.18714	0.955000	0.61496	2.630000	0.46494	1.272000	0.44329	0.555000	0.69702	GAC		0.478	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		G	47471993	C	G	47471993	1	3	16	0	1	0	0	0	0	0	0	0	576	826	29	4		4	AMIGO2	12	47471993	5'Flank	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	20899963	47471993	86379902	37	1160											
KRT3	3850	hgsc.bcm.edu	37	12	53183951	53183951	+	Missense_Mutation	SNP	C	C	T	rs570613061|rs60125653	byFrequency	TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr12:53183951C>T	ENST00000417996.2	-	9	1836	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	KRT3_ENST00000309505.3_Missense_Mutation_p.G589S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	588	Gly-rich.|Tail.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCAAAgccgctgccaccg	0.697																																																0													14	31	25					12																	53183951		1574	3123	4697	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1762G>A	chr12.hg19:g.53183951C>T	ENSP00000413479:p.Gly588Ser		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	hg19	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307617	0.40795	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.91351	-2.83;-2.83	3.4	-1.34	0.09143	.	0.507655	0.14827	N	0.296110	T	0.80149	0.4570	N	0.22421	0.69	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.65302	-0.6201	10	0.34782	T	0.22	.	7.4497	0.27231	0.0:0.4872:0.0:0.5128	.	588	P12035	K2C3_HUMAN	S	588;589	ENSP00000413479:G588S;ENSP00000312206:G589S	ENSP00000312206:G589S	G	-	1	0	KRT3	51470218	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.682000	0.01935	-0.284000	0.09102	-0.258000	0.10820	GGC		0.697	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		T	53183951	C	T	53183951	3	4	16	1	0	0	0	0	1	0	0	0	8468	652	23	1	128	1	KRT3	12	53183951	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	5711958	53183951	80667944	38	1161			1	2		2	2	29	N	G_C	5.698112e-05
KRT3	3850	hgsc.bcm.edu	37	12	53183979	53183979	+	Silent	SNP	G	G	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr12:53183979G>A	ENST00000417996.2	-	9	1808	c.1734C>T	c.(1732-1734)ggC>ggT	p.G578G	KRT3_ENST00000309505.3_Silent_p.G579G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	578	Gly-rich.|Tail.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						cgctgctgccgccgccaaatc	0.701																																																0													12	28	22					12																	53183979		1691	3337	5028	SO:0001819	synonymous_variant	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1734C>T	chr12.hg19:g.53183979G>A			A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	hg19	CCDS44895.1																																																																																				0.701	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		A	53183979	G	A	53183979	2	1	16	1	0	0	0	0	0	0	0	1	8468	1074	38	1		1	KRT3	12	53183979	Silent	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10	28	53183979	80667916	39	1162			1	2		2	2	29	N	G_C	5.698112e-05
PPP1R12A	4659	hgsc.bcm.edu	37	12	80214604	80214604	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr12:80214604C>T	ENST00000450142.2	-	8	1330	c.1064G>A	c.(1063-1065)tGc>tAc	p.C355Y	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.C355Y|RP11-530C5.2_ENST00000548469.1_RNA|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.C268Y|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.C355Y|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.C355Y	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	355					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TTCACTAGAGCAGCTAGACTC	0.368																																																0													200	195	196					12																	80214604		1899	4101	6000	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1064G>A	chr12.hg19:g.80214604C>T	ENSP00000389168:p.Cys355Tyr		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	hg19	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061280	0.76187	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	T;T;T;T;T;T;T	0.46819	1.26;1.26;1.26;1.26;1.25;1.23;0.86	5.84	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.62723	1.935	0.80722	D	1	B;B;B;B	0.12630	0.003;0.006;0.003;0.004	B;B;B;B	0.10450	0.004;0.005;0.004;0.002	T	0.41378	-0.9512	10	0.42905	T	0.14	.	14.8529	0.70313	0.0:0.9312:0.0:0.0688	.	355;355;355;355	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	Y	355;355;355;355;355;355;355;268;355;355;50	ENSP00000261207:C355Y;ENSP00000389168:C355Y;ENSP00000416769:C355Y;ENSP00000449514:C268Y;ENSP00000446855:C355Y;ENSP00000446816:C355Y;ENSP00000450061:C50Y	ENSP00000261207:C355Y	C	-	2	0	PPP1R12A	78738735	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.247000	0.78257	1.471000	0.48121	-0.218000	0.12543	TGC		0.368	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		T	80214604	C	T	80214604	3	4	16	1	0	0	0	0	1	0	0	0	12359	710	25	2	2100	2	PPP1R12A	12	80214604	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	27030625	80214604	53637291	40	1163											
C12orf51	283450	hgsc.bcm.edu	37	12	112654883	112654883	+	Silent	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr12:112654883C>T	ENST00000430131.2	-	45	7070	c.5925G>A	c.(5923-5925)ctG>ctA	p.L1975L	HECTD4_ENST00000377560.5_Silent_p.L2225L|HECTD4_ENST00000550722.1_Silent_p.L2251L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1975					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGCCCCGGGGCAGGCCTCCCC	0.547																																																0													24	27	26					12																	112654883		1917	4130	6047	SO:0001819	synonymous_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5925G>A	chr12.hg19:g.112654883C>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	hg19		.	.	.	.	.	.	.	.	.	.	C	9.259	1.042822	0.19748	.	.	ENSG00000173064	ENST00000550968	.	.	.	5.81	1.06	0.20224	.	.	.	.	.	T	0.60932	0.2307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57142	-0.7862	4	.	.	.	.	12.0519	0.53511	0.5084:0.4018:0.0898:0.0	.	.	.	.	Y	142	.	.	C	-	2	0	C12orf51	111139266	0.864000	0.29904	1.000000	0.80357	0.996000	0.88848	-0.036000	0.12185	0.219000	0.20840	0.655000	0.94253	TGC		0.547	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112654883	C	T	112654883	2	4	16	1	0	0	0	0	0	0	0	1	1698	697	25	2		2	C12orf51	12	112654883	Silent	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	32440279	112654883	21197012	41	1164											
LPAR6	10161	hgsc.bcm.edu	37	13	48986185	48986185	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr13:48986185C>G	ENST00000378434.4	-	7	1999	c.375G>C	c.(373-375)aaG>aaC	p.K125N	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.K125N	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTCTTAGAGTCTTTGACTTAA	0.418																																																19	Whole gene deletion(15)|Unknown(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											38	38	38					13																	48986185		2203	4300	6503	SO:0001583	missense	10161			AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	15520	protein-coding gene	gene with protein product		609239	"purinergic receptor P2Y, G-protein coupled, 5"	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.375G>C	chr13.hg19:g.48986185C>G	ENSP00000367691:p.Lys125Asn		A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	hg19	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097503	0.56075	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.72167	-0.63;-0.63	6.06	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.051696	0.85682	D	0.000000	T	0.60483	0.2272	N	0.26042	0.785	0.38310	D	0.943225	P	0.37688	0.605	B	0.42959	0.403	T	0.58211	-0.7676	10	0.20046	T	0.44	.	11.8623	0.52474	0.0:0.8662:0.0:0.1338	.	125	P43657	LPAR6_HUMAN	N	125	ENSP00000367691:K125N;ENSP00000344353:K125N	ENSP00000344353:K125N	K	-	3	2	LPAR6	47884186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.960000	0.40422	2.882000	0.98803	0.655000	0.94253	AAG		0.418	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		G	48986185	C	G	48986185	3	3	16	1	0	0	0	0	1	0	0	0	8911	912	32	4	663	4	LPAR6	13	48986185	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10		48986185	66183693	42	1165											
GALNTL1	57452	hgsc.bcm.edu	37	14	69792741	69792741	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr14:69792741G>A	ENST00000337827.4	+	5	892	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	GALNT16_ENST00000553669.1_Missense_Mutation_p.E189K|GALNT16_ENST00000448469.3_Missense_Mutation_p.E189K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	189	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TGATCGGCGGGAAGGTGAGTC	0.572																																																0													110	92	98					14																	69792741		2203	4300	6503	SO:0001583	missense	57452			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.565G>A	chr14.hg19:g.69792741G>A	ENSP00000336729:p.Glu189Lys		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	hg19	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524011	0.85600	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.61040	0.14;0.14;0.14	5.66	5.66	0.87406	Glycosyl transferase, family 2 (1);	0.046825	0.85682	D	0.000000	T	0.76849	0.4045	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.78122	-0.2327	10	0.72032	D	0.01	.	19.3316	0.94293	0.0:0.0:1.0:0.0	.	189;189	Q8N428;Q58A55	GLTL1_HUMAN;.	K	189	ENSP00000336729:E189K;ENSP00000402970:E189K;ENSP00000451200:E189K	ENSP00000336729:E189K	E	+	1	0	GALNTL1	68862494	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	8.849000	0.92178	2.672000	0.90937	0.655000	0.94253	GAA		0.572	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		A	69792741	G	A	69792741	3	1	16	1	0	0	0	0	1	0	0	0	6223	1175	41	2	583	2	GALNTL1	14	69792741	Missense_Mutation	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10		69792741	37556799	43	1166											
RPS6KA5	9252	hgsc.bcm.edu	37	14	91389482	91389482	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr14:91389482C>T	ENST00000261991.3	-	6	850	c.677G>A	c.(676-678)aGa>aAa	p.R226K	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R226K|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R147K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	226	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R226T(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ATCTCCCCCTCTGACAATATC	0.333																																																2	Substitution - Missense(2)	lung(2)											146	127	133					14																	91389482		2203	4300	6503	SO:0001583	missense	9252			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.677G>A	chr14.hg19:g.91389482C>T	ENSP00000261991:p.Arg226Lys		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	hg19	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314437	0.23908	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.64991	-0.13;-0.13;-0.13	5.51	3.56	0.40772	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.198563	0.56097	N	0.000040	T	0.41236	0.1150	N	0.17312	0.475	0.34057	D	0.656889	B;B	0.02656	0.0;0.0	B;B	0.12837	0.002;0.008	T	0.40346	-0.9568	10	0.23302	T	0.38	.	7.9107	0.29789	0.0:0.6634:0.0:0.3366	.	226;226	O75582-2;O75582	.;KS6A5_HUMAN	K	226;147;226	ENSP00000261991:R226K;ENSP00000442803:R147K;ENSP00000402787:R226K	ENSP00000261991:R226K	R	-	2	0	RPS6KA5	90459235	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.710000	0.25748	0.585000	0.29608	-0.136000	0.14681	AGA		0.333	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		T	91389482	C	T	91389482	3	4	16	1	0	0	0	0	1	0	0	0	13660	913	32	2	1785	2	RPS6KA5	14	91389482	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	21596741	91389482	15960058	44	1167											
MTMR10	54893	hgsc.bcm.edu	37	15	31253167	31253167	+	Silent	SNP	C	C	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr15:31253167C>G	ENST00000435680.1	-	7	772	c.675G>C	c.(673-675)tcG>tcC	p.S225S	MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_Silent_p.S143S|MTMR10_ENST00000425768.1_Missense_Mutation_p.R195P	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	225	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TGTCCCAATCCGAGTAAGTTT	0.473																																																0													79	78	78					15																	31253167		1916	4128	6044	SO:0001819	synonymous_variant	54893			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.675G>C	chr15.hg19:g.31253167C>G			Q6P4Q6	Silent	SNP	ENST00000435680.1	hg19	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300096	0.40694	.	.	ENSG00000166912	ENST00000425768	T	0.54866	0.55	5.15	-10.3	0.00346	.	.	.	.	.	T	0.34513	0.0900	.	.	.	0.21579	N	0.999631	.	.	.	.	.	.	T	0.43814	-0.9368	6	0.52906	T	0.07	.	2.1171	0.03716	0.3931:0.1394:0.3328:0.1347	.	.	.	.	P	195	ENSP00000412314:R195P	ENSP00000412314:R195P	R	-	2	0	MTMR10	29040459	0.241000	0.23857	0.939000	0.37840	0.959000	0.62525	-0.487000	0.06505	-1.281000	0.02399	-0.440000	0.05779	CGG		0.473	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		G	31253167	C	G	31253167	2	3	16	1	0	0	0	0	0	0	0	1	9941	639	23	4		4	MTMR10	15	31253167	Silent	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10		31253167	71278225	45	1168											
NEDD4	4734	hgsc.bcm.edu	37	15	56142779	56142779	+	Silent	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr15:56142779C>T	ENST00000508342.1	-	10	2864	c.2565G>A	c.(2563-2565)agG>agA	p.R855R	NEDD4_ENST00000506154.1_Silent_p.R839R|NEDD4_ENST00000338963.2_Silent_p.R783R|NEDD4_ENST00000435532.3_Silent_p.R436R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	855	Mediates interaction with TNIK. {ECO:0000250}.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAAAGAAAGGCCTCCCATTTG	0.428																																																0													195	210	205					15																	56142779		2193	4292	6485	SO:0001819	synonymous_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2565G>A	chr15.hg19:g.56142779C>T			A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832663	0.02713	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.45	3.54	0.40534	.	.	.	.	.	T	0.59742	0.2216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57289	-0.7837	4	.	.	.	.	9.8067	0.40797	0.0:0.7725:0.0:0.2275	.	.	.	.	D	446	.	.	G	-	2	0	NEDD4	53930071	0.985000	0.35326	1.000000	0.80357	0.048000	0.14542	0.200000	0.17257	1.438000	0.47492	-0.259000	0.10710	GGC		0.428	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		T	56142779	C	T	56142779	2	4	16	1	0	0	0	0	0	0	0	1	10312	738	26	2		2	NEDD4	15	56142779	Silent	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	24889612	56142779	46388613	46	1169											
PARP6	56965	hgsc.bcm.edu	37	15	72533806	72533806	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr15:72533806T>G	ENST00000569795.1	-	24	2570	c.1883A>C	c.(1882-1884)tAc>tCc	p.Y628S	PARP6_ENST00000260376.7_3'UTR|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.Y628S			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	628							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TCAGTTTGTGTAAACCTGAGT	0.527																																																0													90	86	87					15																	72533806		1931	4124	6055	SO:0001583	missense	56965			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1883A>C	chr15.hg19:g.72533806T>G	ENSP00000456348:p.Tyr628Ser		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	hg19	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348146	0.61183	.	.	ENSG00000137817	ENST00000287196	.	.	.	4.91	4.91	0.64330	.	9.159190	0.01062	N	0.004676	T	0.57961	0.2089	N	0.08118	0	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.70487	0.969;0.969	T	0.52909	-0.8512	9	0.23891	T	0.37	-0.7931	13.9137	0.63883	0.0:0.0:0.0:1.0	.	628;561	Q2NL67;A0PJ50	PARP6_HUMAN;.	S	628	.	ENSP00000287196:Y628S	Y	-	2	0	PARP6	70320860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.927000	0.75840	2.061000	0.61500	0.528000	0.53228	TAC		0.527	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		G	72533806	T	G	72533806	3	3	16	1	0	0	0	0	1	0	0	0	11466	1638	57	5	13	5	PARP6	15	72533806	Missense_Mutation	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10	16391027	72533806	29997586	47	1170											
IGF1R	3480	hgsc.bcm.edu	37	15	99500486	99500513	+	Frame_Shift_Del	DEL	CCCTCGGCCTCCTCGTCCTCCCTGCCAC	CCCTCGGCCTCCTCGTCCTCCCTGCCAC	-	rs561256285|rs144738779|rs188857649|rs542567372|rs369254807	byFrequency	TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	CCCTCGGCCTCCTCGTCCTCCCTGCCAC	CCCTCGGCCTCCTCGTCCTCCCTGCCAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr15:99500486_99500513delCCCTCGGCCTCCTCGTCCTCCCTGCCAC	ENST00000268035.6	+	21	4530_4557	c.3919_3946delCCCTCGGCCTCCTCGTCCTCCCTGCCAC	c.(3919-3948)ccctcggcctcctcgtcctccctgccactgfs	p.PSASSSSLPL1307fs	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Frame_Shift_Del_p.PSASSSSLPL1306fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1307					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CCCCCTGGACCCCTCGGCCTCCTCGTCCTCCCTGCCACTGCCCGACAG	0.662																																																0																																										SO:0001589	frameshift_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3919_3946delCCCTCGGCCTCCTCGTCCTCCCTGCCAC	chr15.hg19:g.99500486_99500513delCCCTCGGCCTCCTCGTCCTCCCTGCCAC	ENSP00000268035:p.Pro1307fs		B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Del	DEL	ENST00000268035.6	hg19	CCDS10378.1																																																																																				0.662	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		-	99500513	CCCTCGGCCTCCTCGTCCTCCCTGCCAC	-	99500486	7	5	16	1	0	1	0	1	0	0	0	0	7573	623	22	0	4001	0	IGF1R	15	99500486	Frame_Shift_Del	DEL	CCCTCGGCCTCCTCGTCCTCCCTGCCAC	TCGA-2Z-A9JM-01A-12D-A42J-10	26966680	99500486	3030906	48	1171											
CACNA1H	8912	hgsc.bcm.edu	37	16	1268646	1268646	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr16:1268646C>T	ENST00000348261.5	+	33	6130	c.5882C>T	c.(5881-5883)cCc>cTc	p.P1961L	CACNA1H_ENST00000565831.1_Missense_Mutation_p.P1955L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.P1955L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1961					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCCGGCACCCCCTTGGGTATG	0.672																																																0													8	9	9					16																	1268646		1934	4083	6017	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5882C>T	chr16.hg19:g.1268646C>T	ENSP00000334198:p.Pro1961Leu		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	hg19	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955207	0.34471	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96554	-4.05;-3.99	4.78	2.8	0.32819	.	1.245580	0.06297	U	0.700188	D	0.90563	0.7042	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.16802	0.0;0.019;0.0;0.0;0.0	B;B;B;B;B	0.20184	0.001;0.028;0.001;0.002;0.001	T	0.82121	-0.0614	10	0.31617	T	0.26	.	4.2002	0.10462	0.0:0.6028:0.2199:0.1773	.	707;696;702;1955;1961	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	L	1961;1955	ENSP00000334198:P1961L;ENSP00000351401:P1955L	ENSP00000334198:P1961L	P	+	2	0	CACNA1H	1208647	0.005000	0.15991	0.014000	0.15608	0.002000	0.02628	0.950000	0.29122	1.003000	0.39130	-0.257000	0.10917	CCC		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		T	1268646	C	T	1268646	3	4	16	1	0	0	0	0	1	0	0	0	2547	623	22	2	6008	2	CACNA1H	16	1268646	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10		1268646	89086107	49	1172											
SETD6	79918	hgsc.bcm.edu	37	16	58552019	58552019	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr16:58552019G>T	ENST00000219315.4	+	6	907	c.857G>T	c.(856-858)gGg>gTg	p.G286V	SETD6_ENST00000418480.1_Intron|SETD6_ENST00000310682.2_Missense_Mutation_p.G262V|SETD6_ENST00000394266.4_Missense_Mutation_p.G217V			Q8TBK2	SETD6_HUMAN	SET domain containing 6	286	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						AACACTTATGGGCAAATGGCT	0.463																																																0													150	121	131					16																	58552019		2198	4300	6498	SO:0001583	missense	79918			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.857G>T	chr16.hg19:g.58552019G>T	ENSP00000219315:p.Gly286Val		A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	hg19	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618020	0.87359	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.26660	1.72;1.72;1.72	5.72	5.72	0.89469	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73569	-0.3941	10	0.87932	D	0	-19.1594	18.875	0.92331	0.0:0.0:1.0:0.0	.	286;262	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	V	262;217;286	ENSP00000310082:G262V;ENSP00000377809:G217V;ENSP00000219315:G286V	ENSP00000219315:G286V	G	+	2	0	SETD6	57109520	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	9.219000	0.95173	2.689000	0.91719	0.650000	0.86243	GGG		0.463	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		T	58552019	G	T	58552019	3	4	16	1	0	0	0	0	1	0	0	0	14141	1232	43	4	879	4	SETD6	16	58552019	Missense_Mutation	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10	57283373	58552019	31802734	50	1173											
BCAR1	9564	hgsc.bcm.edu	37	16	75263502	75263502	+	Silent	SNP	A	A	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr16:75263502A>T	ENST00000162330.5	-	7	2646	c.2520T>A	c.(2518-2520)ccT>ccA	p.P840P	BCAR1_ENST00000393420.6_Silent_p.P858P|BCAR1_ENST00000535626.2_Silent_p.P692P|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Silent_p.P886P|BCAR1_ENST00000420641.3_Silent_p.P858P|BCAR1_ENST00000538440.2_Silent_p.P840P|BCAR1_ENST00000546196.1_Silent_p.P811P|BCAR1_ENST00000393422.2_Silent_p.P858P|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000542031.2_Silent_p.P838P	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	840					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGCCGCGGAAGGCGATGGGT	0.682																																																0													30	24	26					16																	75263502		2196	4299	6495	SO:0001819	synonymous_variant	9564			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2520T>A	chr16.hg19:g.75263502A>T			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	hg19	CCDS10915.1																																																																																				0.682	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		T	75263502	A	T	75263502	2	4	16	1	0	0	0	0	0	0	0	1	1348	59	3	5		5	BCAR1	16	75263502	Silent	SNP	A	TCGA-2Z-A9JM-01A-12D-A42J-10	16711483	75263502	15091251	51	1174											
PHF12	57649	hgsc.bcm.edu	37	17	27234650	27234650	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr17:27234650A>T	ENST00000332830.4	-	13	3309	c.2499T>A	c.(2497-2499)tgT>tgA	p.C833*	PHF12_ENST00000577226.1_3'UTR|PHF12_ENST00000582655.1_5'Flank	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ACACGTAGTTACAGTGACCAT	0.537																																																0													123	96	105					17																	27234650		2203	4300	6503	SO:0001587	stop_gained	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2499T>A	chr17.hg19:g.27234650A>T	ENSP00000329933:p.Cys833*			Nonsense_Mutation	SNP	ENST00000332830.4	hg19	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	A	46	12.355174	0.99660	.	.	ENSG00000109118	ENST00000332830	.	.	.	4.34	3.27	0.37495	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.8096	6.3665	0.21457	0.8029:0.0:0.1971:0.0	.	.	.	.	X	833	.	ENSP00000329933:C833X	C	-	3	2	PHF12	24258776	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.575000	0.53870	0.705000	0.31890	0.383000	0.25322	TGT		0.537	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		T	27234650	A	T	27234650	4	4	16	1	0	0	0	0	0	1	0	0	11825	389	14	5	527	5	PHF12	17	27234650	Nonsense_Mutation	SNP	A	TCGA-2Z-A9JM-01A-12D-A42J-10		27234650	53960560	52	1175											
CACNA1G	8913	hgsc.bcm.edu	37	17	48703733	48703733	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr17:48703733A>G	ENST00000359106.5	+	38	6755	c.6755A>G	c.(6754-6756)cAg>cGg	p.Q2252R	CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q2189R|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q2218R|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q2207R|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q2136R|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q2069R|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q2046R|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q2181R|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q2107R|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q2102R|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Q2141R|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Q2125R|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q2173R|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q2114R|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q2125R|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q2159R|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q2196R|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Q2134R|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q2166R|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q2080R|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q2148R|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q2152R|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q2162R|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q2118R|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q2241R	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2252					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGGAGGCCCAGAGCTGCCAG	0.667											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													17	23	21					17																	48703733		2033	4181	6214	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6755A>G	chr17.hg19:g.48703733A>G	ENSP00000352011:p.Gln2252Arg	956	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.143188	0.57044	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97752	-4.37;-4.35;-4.32;-4.37;-4.45;-4.38;-4.52;-4.48;-4.52;-4.51;-4.41;-4.35;-4.49;-4.36;-4.36;-4.4;-4.36;-4.4;-4.4;-4.4;-4.36;-4.4;-4.39;-4.44;-4.43	5.32	3.06	0.35304	.	1.379610	0.04274	N	0.342662	D	0.98340	0.9449	M	0.61703	1.905	0.42919	D	0.994288	D;B;B;D;D;P;D;P;D;B;B;P;B;P;P;D;D;P;P;B;D;B;P;P;P	0.67145	0.958;0.209;0.087;0.959;0.992;0.949;0.959;0.895;0.959;0.001;0.001;0.936;0.209;0.788;0.926;0.996;0.979;0.887;0.948;0.361;0.958;0.167;0.82;0.893;0.658	D;B;B;D;D;P;D;P;D;B;B;P;B;B;D;D;P;P;P;B;D;B;P;B;P	0.74348	0.943;0.038;0.08;0.956;0.983;0.599;0.935;0.573;0.956;0.001;0.001;0.669;0.056;0.304;0.956;0.936;0.69;0.604;0.7;0.077;0.943;0.04;0.504;0.4;0.645	D	0.91285	0.5054	10	0.51188	T	0.08	.	9.6137	0.39679	0.856:0.0:0.144:0.0	.	2102;2114;2107;2189;2162;2134;2166;2125;2152;2069;2080;2181;2148;2241;2141;2196;2159;2229;2207;2125;2118;2173;2136;2252;2046	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	R	2136;2125;2218;2118;2181;2148;2114;2102;2107;2125;2207;2241;2162;2152;2173;2159;2134;2196;2166;2046;2252;2141;2189;2080;2069	ENSP00000353990:Q2136R;ENSP00000339302:Q2125R;ENSP00000347078:Q2218R;ENSP00000409759:Q2118R;ENSP00000425522:Q2181R;ENSP00000426261:Q2148R;ENSP00000425451:Q2114R;ENSP00000422407:Q2102R;ENSP00000426814:Q2107R;ENSP00000427238:Q2125R;ENSP00000423112:Q2207R;ENSP00000420918:Q2241R;ENSP00000426172:Q2162R;ENSP00000423045:Q2152R;ENSP00000427173:Q2173R;ENSP00000426098:Q2159R;ENSP00000425698:Q2134R;ENSP00000426232:Q2196R;ENSP00000423317:Q2166R;ENSP00000350979:Q2046R;ENSP00000352011:Q2252R;ENSP00000414388:Q2141R;ENSP00000423155:Q2189R;ENSP00000422268:Q2080R;ENSP00000421518:Q2069R	ENSP00000339302:Q2125R	Q	+	2	0	CACNA1G	46058732	1.000000	0.71417	0.341000	0.25589	0.972000	0.66771	3.389000	0.52516	0.324000	0.23333	0.379000	0.24179	CAG		0.667	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		G	48703733	A	G	48703733	3	3	16	1	0	0	0	0	1	0	0	0	2546	188	7	3	7172	3	CACNA1G	17	48703733	Missense_Mutation	SNP	A	TCGA-2Z-A9JM-01A-12D-A42J-10	21469083	48703733	32491477	53	1176											
LPO	4025	hgsc.bcm.edu	37	17	56332255	56332255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr17:56332255delC	ENST00000262290.4	+	9	1505	c.1189delC	c.(1189-1191)ctafs	p.L397fs	LPO_ENST00000543544.1_Frame_Shift_Del_p.L338fs|LPO_ENST00000421678.2_Frame_Shift_Del_p.L314fs|LPO_ENST00000582328.1_Frame_Shift_Del_p.L314fs	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	397					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGCCAGAGAACTAAAGAGACT	0.567																																																0													104	105	105					17																	56332255		2203	4300	6503	SO:0001589	frameshift_variant	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1189delC	chr17.hg19:g.56332255delC	ENSP00000262290:p.Leu397fs		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Frame_Shift_Del	DEL	ENST00000262290.4	hg19	CCDS32689.1																																																																																				0.567	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			-	56332255	C	-	56332255	7	5	16	1	0	1	0	1	0	0	0	0	8924	564	20	0	1219	0	LPO	17	56332255	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JM-01A-12D-A42J-10	7628522	56332255	24862955	54	1177											
CHMP1B	57132	hgsc.bcm.edu	37	18	11852058	11852058	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr18:11852058C>A	ENST00000526991.2	+	1	664	c.548C>A	c.(547-549)gCg>gAg	p.A183E	GNAL_ENST00000269162.5_Intron|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000334049.6_Intron|RP11-78A19.3_ENST00000586474.1_RNA	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	183	Interaction with SPAST.|Interaction with VPS4A, MITD1 and STAMBP.|Interaction with VPS4B.|Interaction with VTA1.				cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						GTGGCTTCGGCGGAGCAGGAT	0.617																																																0													19	24	22					18																	11852058		1963	4151	6114	SO:0001583	missense	57132			AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"Charged multivesicular body proteins"	24287	protein-coding gene	gene with protein product		606486	"chromatin modifying protein 1B"			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.548C>A	chr18.hg19:g.11852058C>A	ENSP00000432279:p.Ala183Glu		Q96E89|Q9HD41	Missense_Mutation	SNP	ENST00000526991.2	hg19	CCDS54180.1	.	.	.	.	.	.	.	.	.	.	C	8.013	0.757866	0.15846	.	.	ENSG00000255112	ENST00000526991	D	0.85955	-2.05	5.21	4.34	0.51931	.	.	.	.	.	T	0.71005	0.3289	N	0.17564	0.495	0.36770	D	0.883757	B	0.02656	0.0	B	0.04013	0.001	T	0.65705	-0.6103	9	0.02654	T	1	.	13.9894	0.64357	0.0:0.8473:0.1526:0.0	.	183	Q7LBR1	CHM1B_HUMAN	E	183	ENSP00000432279:A183E	ENSP00000432279:A183E	A	+	2	0	CHMP1B	11842058	1.000000	0.71417	0.978000	0.43139	0.789000	0.44602	5.333000	0.65917	1.562000	0.49601	0.655000	0.94253	GCG		0.617	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2	NM_020412		A	11852058	C	A	11852058	3	1	16	1	0	0	0	0	1	0	0	0	3355	768	27	4	550	4	CHMP1B	18	11852058	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10		11852058	66225190	55	1178											
TNPO2	30000	hgsc.bcm.edu	37	19	12816354	12816354	+	Silent	SNP	G	G	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr19:12816354G>T	ENST00000592287.1	-	16	1923	c.1815C>A	c.(1813-1815)gtC>gtA	p.V605V	TNPO2_ENST00000356861.5_Silent_p.V605V|TNPO2_ENST00000425528.1_Silent_p.V605V|TNPO2_ENST00000450764.2_Silent_p.V605V|TNPO2_ENST00000441499.1_Silent_p.V605V|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000588216.1_Silent_p.V605V	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	605					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCGCTGGTAGACGGGCTCAC	0.637																																																0													25	29	28					19																	12816354		2119	4218	6337	SO:0001819	synonymous_variant	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1815C>A	chr19.hg19:g.12816354G>T			O14655|Q6IN77	Silent	SNP	ENST00000592287.1	hg19	CCDS45991.1																																																																																				0.637	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		T	12816354	G	T	12816354	2	4	16	1	0	0	0	0	0	0	0	1	16341	929	33	4		4	TNPO2	19	12816354	Silent	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10		12816354	46312629	56	1179											
PAK4	10298	hgsc.bcm.edu	37	19	39663570	39663570	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr19:39663570G>C	ENST00000593690.1	+	5	644	c.217G>C	c.(217-219)Ggc>Cgc	p.G73R	PAK4_ENST00000599470.1_Intron|PAK4_ENST00000321944.4_Missense_Mutation_p.G73R|PAK4_ENST00000360442.3_Missense_Mutation_p.G73R|PAK4_ENST00000599386.1_Intron|PAK4_ENST00000358301.3_Missense_Mutation_p.G73R|PAK4_ENST00000435673.2_Missense_Mutation_p.G73R	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	73	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CATCGTGCGGGGCAGCAAAGG	0.652																																																0													17	17	17					19																	39663570		2066	3994	6060	SO:0001583	missense	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.217G>C	chr19.hg19:g.39663570G>C	ENSP00000469413:p.Gly73Arg		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	hg19	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204131	0.79127	.	.	ENSG00000130669	ENST00000358301;ENST00000435673;ENST00000360442	T;T;T	0.51325	0.71;0.71;0.71	4.04	4.04	0.47022	.	0.122742	0.56097	D	0.000040	T	0.66655	0.2811	M	0.73598	2.24	0.50813	D	0.999891	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.974	T	0.68700	-0.5339	10	0.45353	T	0.12	.	13.7374	0.62827	0.0:0.0:1.0:0.0	.	73;73	O96013-4;O96013	.;PAK4_HUMAN	R	73	ENSP00000351049:G73R;ENSP00000392753:G73R;ENSP00000353625:G73R	ENSP00000351049:G73R	G	+	1	0	PAK4	44355410	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.256000	0.95535	2.085000	0.62840	0.555000	0.69702	GGC		0.652	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			C	39663570	G	C	39663570	3	2	16	1	0	0	0	0	1	0	0	0	11405	1232	43	4	223	4	PAK4	19	39663570	Missense_Mutation	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10	26847216	39663570	19465413	57	1180											
RABAC1	10567	hgsc.bcm.edu	37	19	42463044	42463044	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr19:42463044C>T	ENST00000222008.6	-	2	210	c.113G>A	c.(112-114)cGc>cAc	p.R38H	RABAC1_ENST00000601078.1_5'UTR|RABAC1_ENST00000601891.1_Missense_Mutation_p.R38H	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	38	Required for interaction with prenylated RAB3A and VAMP2. {ECO:0000250}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	identical protein binding (GO:0042802)			central_nervous_system(1)|kidney(1)|prostate(1)	3						GGTCGCGCGGCGCCGCTCCAG	0.721																																																0													20	19	19					19																	42463044		2187	4292	6479	SO:0001583	missense	10567			AJ133534	CCDS12593.1	19q13.2	2012-09-20			ENSG00000105404	ENSG00000105404			9794	protein-coding gene	gene with protein product	"PRA1 domain family 1", "prenylated Rab acceptor 1"	604925				10329441, 10751420	Standard	NM_006423		Approved	PRA1, PRAF1, YIP3	uc002osf.3	Q9UI14		ENST00000222008.6:c.113G>A	chr19.hg19:g.42463044C>T	ENSP00000222008:p.Arg38His		Q7Z4Y2|Q9Y3R1	Missense_Mutation	SNP	ENST00000222008.6	hg19	CCDS12593.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210649	0.79240	.	.	ENSG00000105404	ENST00000222008	T	0.46063	0.88	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	M	0.80847	2.515	0.80722	D	1	B	0.19073	0.033	B	0.19946	0.027	T	0.52442	-0.8575	10	0.51188	T	0.08	-7.2464	14.7269	0.69351	0.0:1.0:0.0:0.0	.	38	Q9UI14	PRAF1_HUMAN	H	38	ENSP00000222008:R38H	ENSP00000222008:R38H	R	-	2	0	RABAC1	47154884	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.894000	0.63206	2.413000	0.81919	0.561000	0.74099	CGC		0.721	RABAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463388.1	NM_006423		T	42463044	C	T	42463044	3	4	16	1	0	0	0	0	1	0	0	0	12966	768	27	1	460	1	RABAC1	19	42463044	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	2799474	42463044	16665939	58	1181											
ZNF225	7768	hgsc.bcm.edu	37	19	44635280	44635280	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr19:44635280delA	ENST00000262894.6	+	5	793	c.513delA	c.(511-513)tcafs	p.S171fs	ZNF225_ENST00000590612.1_Frame_Shift_Del_p.S171fs|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AACTACAGTCAAGAGAGAAGT	0.398																																																0													88	91	90					19																	44635280		2074	4246	6320	SO:0001589	frameshift_variant	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.513delA	chr19.hg19:g.44635280delA	ENSP00000262894:p.Ser171fs		A8K8S2|Q53F12|Q9NS46|Q9UID8	Frame_Shift_Del	DEL	ENST00000262894.6	hg19	CCDS46100.1																																																																																				0.398	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			-	44635280	A	-	44635280	7	5	16	1	0	1	0	1	0	0	0	0	17784	117	5	0	527	0	ZNF225	19	44635280	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JM-01A-12D-A42J-10	2172236	44635280	14493703	59	1182											
C20orf26	26074	hgsc.bcm.edu	37	20	20243776	20243776	+	Splice_Site	SNP	T	T	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr20:20243776T>A	ENST00000245957.5	+	21	2579		c.e21+2		RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Splice_Site|C20orf26_ENST00000389656.3_Splice_Site|C20orf26_ENST00000377309.2_Splice_Site	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN												NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCACAGAAGGTAAGGATGTCG	0.383																																																0													97	93	94					20																	20243776		2203	4300	6503	SO:0001630	splice_region_variant	26074																														ENST00000245957.5:c.2503+2T>A	chr20.hg19:g.20243776T>A			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Splice_Site	SNP	ENST00000245957.5	hg19	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271005	0.59540	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4346	0.75137	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C20orf26	20191776	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	5.997000	0.70646	2.223000	0.72356	0.533000	0.62120	.		0.383	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		Intron	A	20243776	T	A	20243776	5	1	16	1	0	0	0	0	0	0	1	0	2108	1652	57	5	2615	5	C20orf26	20	20243776	Splice_Site	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10		20243776	42781744	60	1183											
SDC4	6385	hgsc.bcm.edu	37	20	43964542	43964542	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr20:43964542T>G	ENST00000372733.3	-	2	118	c.79A>C	c.(79-81)Atc>Ctc	p.I27L	SDC4_ENST00000537976.1_Intron	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	27					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TGGGGGTCGATGACCTCAGTC	0.542			T	ROS1	NSCLC																																		Dom	yes		20	20q12	6385	syndecan 4		E	0													58	54	55					20																	43964542		2203	4300	6503	SO:0001583	missense	6385			X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.79A>C	chr20.hg19:g.43964542T>G	ENSP00000361818:p.Ile27Leu		O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	hg19	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	T	8.734	0.917388	0.17982	.	.	ENSG00000124145	ENST00000372733	T	0.28069	1.63	4.79	3.69	0.42338	.	0.238198	0.44483	D	0.000451	T	0.22126	0.0533	M	0.63428	1.95	0.80722	D	1	B	0.27229	0.172	B	0.16289	0.015	T	0.09357	-1.0678	10	0.02654	T	1	-22.057	7.2188	0.25975	0.0:0.1034:0.0:0.8966	.	27	P31431	SDC4_HUMAN	L	27	ENSP00000361818:I27L	ENSP00000361818:I27L	I	-	1	0	SDC4	43397956	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.662000	0.46766	0.795000	0.33922	0.459000	0.35465	ATC		0.542	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		G	43964542	T	G	43964542	3	3	16	1	0	0	0	0	1	0	0	0	13960	1464	51	5	533	5	SDC4	20	43964542	Missense_Mutation	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10	23720766	43964542	19060978	61	1184											
ZNF335	63925	hgsc.bcm.edu	37	20	44588028	44588028	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr20:44588028G>T	ENST00000322927.2	-	15	2165	c.2065C>A	c.(2065-2067)Cac>Aac	p.H689N	ZNF335_ENST00000426788.1_Missense_Mutation_p.H534N	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	689					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TTCTTCTTGTGCCGTGTGCTG	0.662																																																0													53	40	44					20																	44588028		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2065C>A	chr20.hg19:g.44588028G>T	ENSP00000325326:p.His689Asn		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	hg19	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809312	0.90707	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.01613	4.73;4.73	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	L	0.35644	1.08	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.98	T	0.48896	-0.8994	10	0.44086	T	0.13	-29.7901	17.5159	0.87773	0.0:0.0:1.0:0.0	.	534;689	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	N	689;466;534	ENSP00000325326:H689N;ENSP00000397098:H534N	ENSP00000243961:H466N	H	-	1	0	ZNF335	44021435	1.000000	0.71417	0.969000	0.41365	0.943000	0.58893	9.113000	0.94321	2.607000	0.88179	0.561000	0.74099	CAC		0.662	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		T	44588028	G	T	44588028	3	4	16	1	0	0	0	0	1	0	0	0	17857	1319	46	4	2019	4	ZNF335	20	44588028	Missense_Mutation	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10	623486	44588028	18437492	62	1185											
ARFRP1	10139	hgsc.bcm.edu	37	20	62331971	62331971	+	Silent	SNP	G	G	C			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr20:62331971G>C	ENST00000359715.5	-	6	1067	c.501C>G	c.(499-501)gcC>gcG	p.A167A	ARFRP1_ENST00000324228.2_Silent_p.A167A|ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000609142.1_Silent_p.A167A|ARFRP1_ENST00000440854.1_Silent_p.A167A|ARFRP1_ENST00000607873.1_Silent_p.A120A			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	167					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			GGGCCGAGCAGGCCTGGGTCA	0.662																																																0													48	41	44					20																	62331971		2196	4290	6486	SO:0001819	synonymous_variant	10139			X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"ADP-ribosylation factors"	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.501C>G	chr20.hg19:g.62331971G>C			B7ZKX7|E1P5J9|Q6IBQ0	Silent	SNP	ENST00000359715.5	hg19	CCDS13533.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400715	0.25291	.	.	ENSG00000101246	ENST00000217224	.	.	.	5.4	3.1	0.35709	.	.	.	.	.	T	0.62159	0.2405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60475	-0.7256	4	.	.	.	-36.1778	11.6004	0.50999	0.2192:0.0:0.7808:0.0	.	.	.	.	V	95	.	.	L	-	1	2	ARFRP1	61802415	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	0.750000	0.26334	1.274000	0.44362	0.462000	0.41574	CTG		0.662	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1			C	62331971	G	C	62331971	2	2	16	1	0	0	0	0	0	0	0	1	856	987	35	4		4	ARFRP1	20	62331971	Silent	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10	17743943	62331971	693549	63	1186											
ZNRF3	84133	hgsc.bcm.edu	37	22	29445610	29445610	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chr22:29445610G>A	ENST00000544604.2	+	8	1616	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	ZNRF3_ENST00000332811.4_Missense_Mutation_p.E381K|ZNRF3_ENST00000402174.1_Missense_Mutation_p.E381K|ZNRF3_ENST00000406323.3_Missense_Mutation_p.E381K	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	481					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGCTACCCGGAGCAGGAGGG	0.657																																																0													31	35	33					22																	29445610		2098	4197	6295	SO:0001583	missense	84133			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1441G>A	chr22.hg19:g.29445610G>A	ENSP00000443824:p.Glu481Lys		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	hg19	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309517	0.81247	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.53	5.53	0.82687	.	0.154870	0.64402	D	0.000019	T	0.78502	0.4293	L	0.56769	1.78	0.40137	D	0.976783	P	0.51057	0.941	B	0.43478	0.421	T	0.79152	-0.1921	10	0.36615	T	0.2	-10.7636	14.1104	0.65118	0.0:0.1501:0.8499:0.0	.	481	Q9ULT6	ZNRF3_HUMAN	K	481;381;188;381;381	ENSP00000443824:E481K;ENSP00000328614:E381K;ENSP00000384456:E381K;ENSP00000384553:E381K	ENSP00000328614:E381K	E	+	1	0	ZNRF3	27775610	1.000000	0.71417	0.986000	0.45419	0.898000	0.52572	6.564000	0.73969	2.593000	0.87608	0.655000	0.94253	GAG		0.657	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		A	29445610	G	A	29445610	3	1	16	1	0	0	0	0	1	0	0	0	18218	1175	41	2	1167	2	ZNRF3	22	29445610	Missense_Mutation	SNP	G	TCGA-2Z-A9JM-01A-12D-A42J-10		29445610	21858956	64	1187											
ZMYM3	9203	hgsc.bcm.edu	37	X	70472532	70472532	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chrX:70472532T>C	ENST00000353904.2	-	2	761	c.574A>G	c.(574-576)Agc>Ggc	p.S192G	ZMYM3_ENST00000373988.1_Missense_Mutation_p.S192G|ZMYM3_ENST00000373978.1_Missense_Mutation_p.S192G|ZMYM3_ENST00000373998.1_Missense_Mutation_p.S192G|ZMYM3_ENST00000373982.1_Missense_Mutation_p.S192G|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S192G|ZMYM3_ENST00000373981.1_Missense_Mutation_p.S192G|ZMYM3_ENST00000314425.5_Missense_Mutation_p.S192G	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	192					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACTGAAGGGCTAGGCGGGGCA	0.607																																																0													36	33	34					X																	70472532		2203	4300	6503	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.574A>G	chrX.hg19:g.70472532T>C	ENSP00000343909:p.Ser192Gly		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	hg19	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	t	4.052	0.007331	0.07866	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.47177	1.47;0.88;1.47;1.47;1.47;0.85;0.85	5.08	3.93	0.45458	.	1.057890	0.07351	N	0.882388	T	0.34048	0.0884	N	0.19112	0.55	0.23716	N	0.997031	B;B;B	0.31817	0.0;0.341;0.092	B;B;B	0.32980	0.001;0.156;0.074	T	0.23583	-1.0184	10	0.38643	T	0.18	-5.5579	7.0795	0.25223	0.0:0.1055:0.0:0.8945	.	192;192;192	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	G	192	ENSP00000322845:S192G;ENSP00000363110:S192G;ENSP00000343909:S192G;ENSP00000363096:S192G;ENSP00000363100:S192G;ENSP00000363094:S192G;ENSP00000363093:S192G	ENSP00000322845:S192G	S	-	1	0	ZMYM3	70389257	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	1.530000	0.36007	1.681000	0.50988	0.352000	0.21897	AGC		0.607	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		C	70472532	T	C	70472532	3	2	16	1	0	0	0	0	1	0	0	0	17706	1522	53	3	3652	3	ZMYM3	23	70472532	Missense_Mutation	SNP	T	TCGA-2Z-A9JM-01A-12D-A42J-10		70472532	84798028	65	1188											
HDAC8	55869	hgsc.bcm.edu	37	X	71792527	71792527	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JM-01A-12D-A42J-10	TCGA-2Z-A9JM-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5f432901-8404-4499-ac42-e4560804eee8	db9c908a-91c7-4c8f-b608-39bc3e98d82b	g.chrX:71792527C>G	ENST00000373573.3	-	1	426	c.85G>C	c.(85-87)Gac>Cac	p.D29H	HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373571.1_Missense_Mutation_p.D29H|HDAC8_ENST00000373556.3_Missense_Mutation_p.D29H|HDAC8_ENST00000373560.2_Missense_Mutation_p.D29H|HDAC8_ENST00000373554.1_Missense_Mutation_p.D29H|HDAC8_ENST00000439122.2_Missense_Mutation_p.D29H|HDAC8_ENST00000373559.4_Missense_Mutation_p.D29H|HDAC8_ENST00000373583.1_Missense_Mutation_p.D29H|HDAC8_ENST00000373589.4_Missense_Mutation_p.D29H|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373561.4_Missense_Mutation_p.D29H	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	29	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	GCCAGGGAGTCACACATACTG	0.582																																																0													86	79	81					X																	71792527		2203	4300	6503	SO:0001583	missense	55869			AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"histone deacetylase-like 1", "Wilson-Turner X-linked mental retardation syndrome"	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.85G>C	chrX.hg19:g.71792527C>G	ENSP00000362674:p.Asp29His		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	hg19	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813872	0.70912	.	.	ENSG00000147099	ENST00000373573;ENST00000373583;ENST00000373589;ENST00000373568;ENST00000415409;ENST00000373571;ENST00000439122;ENST00000373560;ENST00000373559;ENST00000373561;ENST00000373556;ENST00000373554	T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.55;-0.8;-0.8;-0.55;-0.55;-0.55;-0.55;-0.8;-0.55;-0.55;-0.55	4.77	4.77	0.60923	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.83188	0.5200	L	0.60957	1.885	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.971;0.971	D	0.83870	0.0273	10	0.51188	T	0.08	-14.3316	14.8087	0.69977	0.0:1.0:0.0:0.0	.	29;29;29;29	B4DH31;B4DKN0;B4DV22;Q9BY41	.;.;.;HDAC8_HUMAN	H	29	ENSP00000362674:D29H;ENSP00000362691:D29H;ENSP00000362669:D29H;ENSP00000396424:D29H;ENSP00000362672:D29H;ENSP00000414486:D29H;ENSP00000362661:D29H;ENSP00000362660:D29H;ENSP00000362662:D29H;ENSP00000362657:D29H;ENSP00000362655:D29H	ENSP00000362655:D29H	D	-	1	0	HDAC8	71709252	1.000000	0.71417	0.997000	0.53966	0.616000	0.37450	5.895000	0.69814	2.298000	0.77334	0.436000	0.28706	GAC		0.582	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		G	71792527	C	G	71792527	3	3	16	1	0	0	0	0	1	0	0	0	7015	826	29	4	1178	4	HDAC8	23	71792527	Missense_Mutation	SNP	C	TCGA-2Z-A9JM-01A-12D-A42J-10	1319995	71792527	83478033	66	1189											
CROCC	9696	hgsc.bcm.edu	37	1	17297201	17297201	+	Missense_Mutation	SNP	G	G	A	rs150054438		TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr1:17297201G>A	ENST00000375541.5	+	35	5792	c.5723G>A	c.(5722-5724)cGc>cAc	p.R1908H		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCCTGGACCGCACCCTCACG	0.657																																																0													25	27	26					1																	17297201		2202	4299	6501	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5723G>A	chr1.hg19:g.17297201G>A	ENSP00000364691:p.Arg1908His			Missense_Mutation	SNP	ENST00000375541.5	hg19	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779247	0.70107	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10668	2.85	4.6	2.7	0.31948	.	.	.	.	.	T	0.16342	0.0393	L	0.47716	1.5	0.47065	D	0.9993	D;P;P	0.59357	0.985;0.937;0.929	P;P;P	0.54460	0.753;0.483;0.651	T	0.01460	-1.1349	9	0.37606	T	0.19	.	9.1203	0.36784	0.1828:0.0:0.8172:0.0	.	1789;1211;1908	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	H	1908;1789	ENSP00000364691:R1908H	ENSP00000364691:R1908H	R	+	2	0	CROCC	17169788	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	3.350000	0.52224	0.487000	0.27698	0.655000	0.94253	CGC		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		A	17297201	G	A	17297201	3	1	17	1	0	0	0	0	1	0	0	0	3895	1087	38	1	5861	1	CROCC	1	17297201	Missense_Mutation	SNP	G	TCGA-2Z-A9JN-01A-21D-A42J-10		17297201	231953420	1	1190											
TAS1R2	80834	hgsc.bcm.edu	37	1	19181460	19181460	+	Silent	SNP	G	G	A	rs373438774		TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr1:19181460G>A	ENST00000375371.3	-	3	525	c.504C>T	c.(502-504)agC>agT	p.S168S	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	168					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCAGCTCATCGCTGATGGCGC	0.637																																																0								G		1,4403	2.1+/-5.4	0,1,2201	42	42	42		504	-3.7	0	1		42	0,8598		0,0,4299	no	coding-synonymous	TAS1R2	NM_152232.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		168/840	19181460	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.504C>T	chr1.hg19:g.19181460G>A			Q5TZ19	Silent	SNP	ENST00000375371.3	hg19	CCDS187.1																																																																																				0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			A	19181460	G	A	19181460	2	1	17	1	0	0	0	0	0	0	0	1	15568	1078	38	1		1	TAS1R2	1	19181460	Silent	SNP	G	TCGA-2Z-A9JN-01A-21D-A42J-10	1884259	19181460	230069161	2	1191											
CD1A	909	hgsc.bcm.edu	37	1	158226807	158226807	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr1:158226807G>A	ENST00000289429.5	+	4	1369	c.836G>A	c.(835-837)cGg>cAg	p.R279Q		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	279	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.R279Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CTGTCCTGTCGGGTGAAGCAC	0.612																																																1	Substitution - Missense(1)	urinary_tract(1)											83	77	79					1																	158226807		2203	4300	6503	SO:0001583	missense	909			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.836G>A	chr1.hg19:g.158226807G>A	ENSP00000289429:p.Arg279Gln		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	hg19	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320750	0.41096	.	.	ENSG00000158477	ENST00000289429	T	0.02812	4.15	3.84	1.94	0.25998	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.221369	0.23003	N	0.053047	T	0.02304	0.0071	L	0.45137	1.4	0.09310	N	1	D	0.76494	0.999	P	0.59221	0.854	T	0.44065	-0.9352	10	0.54805	T	0.06	-15.6093	6.0141	0.19592	0.2415:0.0:0.7585:0.0	.	279	P06126	CD1A_HUMAN	Q	279	ENSP00000289429:R279Q	ENSP00000289429:R279Q	R	+	2	0	CD1A	156493431	0.000000	0.05858	0.008000	0.14137	0.385000	0.30292	-0.203000	0.09438	0.406000	0.25560	0.491000	0.48974	CGG		0.612	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		A	158226807	G	A	158226807	3	1	17	1	0	0	0	0	1	0	0	0	2976	1116	39	1	850	1	CD1A	1	158226807	Missense_Mutation	SNP	G	TCGA-2Z-A9JN-01A-21D-A42J-10	139045347	158226807	91023814	3	1192											
ITPKB	3707	hgsc.bcm.edu	37	1	226924884	226924884	+	Silent	SNP	G	G	A	rs147889095	byFrequency	TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr1:226924884G>A	ENST00000272117.3	-	1	275	c.276C>T	c.(274-276)agC>agT	p.S92S	ITPKB_ENST00000429204.1_Silent_p.S92S|ITPKB_ENST00000366784.1_Silent_p.S92S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				tactgccgctgctgccgctgc	0.751																																					Colon(84;110 1851 5306 33547)											0													4	5	5					1																	226924884		1803	3692	5495	SO:0001819	synonymous_variant	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.276C>T	chr1.hg19:g.226924884G>A			Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	hg19	CCDS1555.1																																																																																				0.751	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		A	226924884	G	A	226924884	2	1	17	1	0	0	0	0	0	0	0	1	7920	1310	46	2		2	ITPKB	1	226924884	Silent	SNP	G	TCGA-2Z-A9JN-01A-21D-A42J-10	68698077	226924884	22325737	4	1193											
CFC1	653275	hgsc.bcm.edu	37	2	131280369	131280376	+	Frame_Shift_Del	DEL	CCGCGCGG	CCGCGCGG	-			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	CCGCGCGG	CCGCGCGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr2:131280369_131280376delCCGCGCGG	ENST00000281882.3	+	4	542_549	c.254_261delCCGCGCGG	c.(253-261)tccgcgcggfs	p.SAR85fs	AC013269.3_ENST00000450486.1_RNA	NM_001079530.1	NP_001072998.1	P0CG36	CFC1B_HUMAN	cripto, FRL-1, cryptic family 1B	85					gastrulation (GO:0007369)	extracellular region (GO:0005576)						Colorectal(110;0.1)					GCAGGTGCGTCCGCGCGGCCGCGCTGCT	0.774																																																0																																										SO:0001589	frameshift_variant	653275				CCDS33286.1	2q21.1	2008-09-04			ENSG00000152093	ENSG00000152093			33983	protein-coding gene	gene with protein product							Standard	NM_001079530		Approved		uc002trl.2	P0CG36	OTTHUMG00000153959	ENST00000281882.3:c.254_261delCCGCGCGG	chr2.hg19:g.131280369_131280376delCCGCGCGG	ENSP00000281882:p.Ser85fs		B2RCY0|B9EJD3|Q53T05|Q9GZR3	Frame_Shift_Del	DEL	ENST00000281882.3	hg19	CCDS33286.1																																																																																				0.774	CFC1B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254521.1	NM_001079530		-	131280376	CCGCGCGG	-	131280369	7	5	17	1	0	1	0	1	0	0	0	0	3281	855	30	0	268	0	CFC1	2	131280369	Frame_Shift_Del	DEL	CCGCGCGG	TCGA-2Z-A9JN-01A-21D-A42J-10		131280369	111919004	5	1194											
CFC1	55997	hgsc.bcm.edu	37	2	131355536	131355543	+	Frame_Shift_Del	DEL	GCGCGGCC	GCGCGGCC	-			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	GCGCGGCC	GCGCGGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr2:131355536_131355543delGCGCGGCC	ENST00000259216.4	-	4	522_529	c.260_267delGGCCGCGC	c.(259-267)cggccgcgcfs	p.RPR87fs		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	87	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				determination of left/right symmetry (GO:0007368)|gastrulation (GO:0007369)|nodal signaling pathway (GO:0038092)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nodal binding (GO:0038100)			endometrium(1)|lung(4)	5	Colorectal(110;0.1)					TCCTGCAGCAGCGCGGCCGCGCGGACGC	0.779																																																0																																										SO:0001589	frameshift_variant	653275			AF312769	CCDS2162.1, CCDS74573.1, CCDS74574.1	2q21.2	2014-02-04			ENSG00000136698	ENSG00000136698			18292	protein-coding gene	gene with protein product		605194	"heterotaxy 2 (autosomal dominant)"	HTX2		11062482, 10858660	Standard	NM_032545		Approved	CRYPTIC, HTX2	uc002tro.2	P0CG37	OTTHUMG00000131628	ENST00000259216.4:c.260_267delGGCCGCGC	chr2.hg19:g.131355536_131355543delGCGCGGCC	ENSP00000259216:p.Arg87fs		B2RCY0|B9EJD3|Q53T05|Q9GZR3	Frame_Shift_Del	DEL	ENST00000259216.4	hg19	CCDS2162.1																																																																																				0.779	CFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333367.1	NM_032545		-	131355543	GCGCGGCC	-	131355536	7	5	17	1	0	1	0	1	0	0	0	0	3281	958	34	0	1112	0	CFC1	2	131355536	Frame_Shift_Del	DEL	GCGCGGCC	TCGA-2Z-A9JN-01A-21D-A42J-10	75167	131355536	111843837	6	1195											
TMIE	259236	hgsc.bcm.edu	37	3	46751076	46751076	+	Missense_Mutation	SNP	G	G	T	rs552239745|rs397817178|rs10578999|rs544504092|rs538183178|rs71619660|rs75020261	byFrequency	TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr3:46751076G>T	ENST00000326431.3	+	4	524	c.369G>T	c.(367-369)aaG>aaT	p.K123N		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	123	Lys-rich.				inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CAGAGGATaagaagaagaaga	0.502																																																0													56	61	60					3																	46751076		1899	4121	6020	SO:0001583	missense	259236			AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"deafness, autosomal recessive 6"	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.369G>T	chr3.hg19:g.46751076G>T	ENSP00000324775:p.Lys123Asn		A0AV93|A8K0R0	Missense_Mutation	SNP	ENST00000326431.3	hg19	CCDS43081.1	.	.	.	.	.	.	.	.	.	.	G	4.335	0.061563	0.08339	.	.	ENSG00000181585	ENST00000326431	D	0.86230	-2.09	.	.	.	.	0.415784	0.26349	N	0.024899	T	0.76821	0.4041	L	0.40543	1.245	0.09310	N	1	B	0.25441	0.126	B	0.06405	0.002	T	0.64765	-0.6330	8	0.48119	T	0.1	-5.4402	.	.	.	.	123	Q8NEW7	TMIE_HUMAN	N	123	ENSP00000324775:K123N	ENSP00000324775:K123N	K	+	3	2	TMIE	46726080	0.976000	0.34144	0.425000	0.26659	0.475000	0.33008	1.894000	0.39768	0.121000	0.18284	0.123000	0.15791	AAG		0.502	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313853.1	NM_147196		T	46751076	G	T	46751076	3	4	17	1	0	0	0	0	1	0	0	0	16234	933	33	4	383	4	TMIE	3	46751076	Missense_Mutation	SNP	G	TCGA-2Z-A9JN-01A-21D-A42J-10		46751076	151271354	7	1196											
SEC24A	10802	hgsc.bcm.edu	37	5	134010440	134010440	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr5:134010440C>G	ENST00000398844.2	+	5	1241	c.953C>G	c.(952-954)cCa>cGa	p.P318R	SEC24A_ENST00000322887.4_Missense_Mutation_p.P318R	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	318					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGAATTACCCAAGTGGGCCA	0.418																																																0													71	65	66					5																	134010440		1848	4097	5945	SO:0001583	missense	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.953C>G	chr5.hg19:g.134010440C>G	ENSP00000381823:p.Pro318Arg		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	hg19	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612974	0.46631	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	T;T	0.23147	1.92;1.92	5.03	5.03	0.67393	.	0.438354	0.27185	N	0.020535	T	0.29061	0.0722	L	0.54323	1.7	0.54753	D	0.999988	B;B	0.27068	0.167;0.042	B;B	0.26202	0.067;0.036	T	0.04495	-1.0947	10	0.34782	T	0.22	-7.6797	18.7188	0.91686	0.0:1.0:0.0:0.0	.	82;318	B4E205;O95486	.;SC24A_HUMAN	R	318	ENSP00000381823:P318R;ENSP00000321749:P318R	ENSP00000321749:P318R	P	+	2	0	SEC24A	134038339	0.996000	0.38824	1.000000	0.80357	0.820000	0.46376	1.544000	0.36158	2.478000	0.83669	0.563000	0.77884	CCA		0.418	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			G	134010440	C	G	134010440	3	3	17	1	0	0	0	0	1	0	0	0	14000	594	21	4	971	4	SEC24A	5	134010440	Missense_Mutation	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10		134010440	46904820	8	1197											
DNAH8	1769	hgsc.bcm.edu	37	6	38818151	38818151	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr6:38818151T>C	ENST00000359357.3	+	36	4927	c.4673T>C	c.(4672-4674)tTa>tCa	p.L1558S	DNAH8_ENST00000449981.2_Missense_Mutation_p.L1775S|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1558S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1558					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTACCTCATTTACATGAGCAG	0.363																																																0													135	127	130					6																	38818151		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4673T>C	chr6.hg19:g.38818151T>C	ENSP00000352312:p.Leu1558Ser		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	T	24.1	4.493327	0.84962	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.64085	-0.08;-0.08;-0.08	5.66	5.66	0.87406	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000004	T	0.75939	0.3918	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79017	-0.1975	10	0.54805	T	0.06	.	15.9012	0.79377	0.0:0.0:0.0:1.0	.	1558	Q96JB1	DYH8_HUMAN	S	1763;1763;1558;1558	ENSP00000333363:L1763S;ENSP00000352312:L1558S;ENSP00000402294:L1558S	ENSP00000333363:L1763S	L	+	2	0	DNAH8	38926129	1.000000	0.71417	0.893000	0.35052	0.962000	0.63368	7.886000	0.87288	2.167000	0.68274	0.528000	0.53228	TTA		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38818151	T	C	38818151	3	2	17	1	0	0	0	0	1	0	0	0	4609	1764	61	3	4807	3	DNAH8	6	38818151	Missense_Mutation	SNP	T	TCGA-2Z-A9JN-01A-21D-A42J-10		38818151	132296916	9	1198											
DLK2	65989	hgsc.bcm.edu	37	6	43422491	43422491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr6:43422491G>A	ENST00000357338.3	-	2	773	c.73C>T	c.(73-75)Cga>Tga	p.R25*	DLK2_ENST00000372488.3_Nonsense_Mutation_p.R25*|DLK2_ENST00000372485.1_Nonsense_Mutation_p.R25*|DLK2_ENST00000414245.1_Nonsense_Mutation_p.R25*	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	25					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CGCTCACCTCGGACAGGCTGA	0.721											OREG0017451	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													9	12	11					6																	43422491		2139	4177	6316	SO:0001587	stop_gained	65989			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.73C>T	chr6.hg19:g.43422491G>A	ENSP00000349893:p.Arg25*	916	B3KNZ7|Q5T3T8|Q9BQ54	Nonsense_Mutation	SNP	ENST00000357338.3	hg19	CCDS4897.1	.	.	.	.	.	.	.	.	.	.	G	37	6.367189	0.97511	.	.	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000372496;ENST00000357338;ENST00000414245	.	.	.	4.34	-3.28	0.05033	.	0.857967	0.09956	N	0.734079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	8.7775	0.34771	0.0:0.2362:0.2638:0.5	.	.	.	.	X	25	.	ENSP00000349893:R25X	R	-	1	2	DLK2	43530469	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	0.597000	0.24059	-0.832000	0.04251	0.555000	0.69702	CGA		0.721	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		A	43422491	G	A	43422491	4	1	17	1	0	0	0	0	0	1	0	0	4567	1124	39	1	1098	1	DLK2	6	43422491	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JN-01A-21D-A42J-10	4604340	43422491	127692576	10	1199											
ACTB	60	hgsc.bcm.edu	37	7	5569022	5569022	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr7:5569022C>T	ENST00000331789.5	-	3	324	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	45					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CCCATGCCCACCATCACGCCC	0.627																																																0													63	68	66					7																	5569022		2203	4300	6503	SO:0001583	missense	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.133G>A	chr7.hg19:g.5569022C>T	ENSP00000349960:p.Val45Met		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	hg19	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516604	0.27123	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000432588;ENST00000443528;ENST00000417101;ENST00000414620	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	4.9	3.1	0.35709	.	0.000000	0.53938	D	0.000044	D	0.93733	0.7997	M	0.74546	2.27	0.38415	D	0.94602	B	0.20988	0.05	P	0.44990	0.466	D	0.91871	0.5507	10	0.87932	D	0	.	9.1398	0.36897	0.0:0.8199:0.0:0.1801	.	45	P60709	ACTB_HUMAN	M	45;45;45;45;45;48;45	ENSP00000349960:V45M;ENSP00000407473:V45M;ENSP00000393951:V45M;ENSP00000399487:V48M;ENSP00000401032:V45M	ENSP00000349960:V45M	V	-	1	0	ACTB	5535548	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.882000	0.69714	0.490000	0.27771	0.557000	0.71058	GTG		0.627	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		T	5569022	C	T	5569022	3	4	17	1	0	0	0	0	1	0	0	0	193	507	18	2	1010	2	ACTB	7	5569022	Missense_Mutation	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10		5569022	153569641	11	1200											
ABCA13	154664	hgsc.bcm.edu	37	7	48278921	48278921	+	Silent	SNP	C	C	T			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr7:48278921C>T	ENST00000435803.1	+	9	1005	c.981C>T	c.(979-981)caC>caT	p.H327H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	327					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AATGGGGCCACGTTGGAGGCT	0.498																																																0													69	72	71					7																	48278921		2015	4179	6194	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.981C>T	chr7.hg19:g.48278921C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	hg19	CCDS47584.1																																																																																				0.498	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48278921	C	T	48278921	2	4	17	1	0	0	0	0	0	0	0	1	31	535	19	1		1	ABCA13	7	48278921	Silent	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10	42709899	48278921	110859742	12	1201											
FLNC	2318	hgsc.bcm.edu	37	7	128492929	128492929	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr7:128492929C>T	ENST00000325888.8	+	37	6313	c.6052C>T	c.(6052-6054)Cgc>Tgc	p.R2018C	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R1985C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2018					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGTGAGCGTGCGCAAGAGTGG	0.637																																																0													60	68	66					7																	128492929		2078	4199	6277	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6052C>T	chr7.hg19:g.128492929C>T	ENSP00000327145:p.Arg2018Cys		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	hg19	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590842	0.86851	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.44881	0.91;0.91	5.73	5.73	0.89815	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.135360	0.48767	D	0.000161	T	0.49881	0.1583	L	0.40543	1.245	0.53005	D	0.999969	D;D	0.76494	0.999;0.995	P;P	0.57846	0.828;0.696	T	0.49881	-0.8892	10	0.87932	D	0	.	12.9057	0.58152	0.2697:0.7303:0.0:0.0	.	1985;2018	Q14315-2;Q14315	.;FLNC_HUMAN	C	2018;1985	ENSP00000327145:R2018C;ENSP00000344002:R1985C	ENSP00000327145:R2018C	R	+	1	0	FLNC	128280165	0.102000	0.21896	1.000000	0.80357	0.986000	0.74619	1.868000	0.39509	2.722000	0.93159	0.655000	0.94253	CGC		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			T	128492929	C	T	128492929	3	4	17	1	0	0	0	0	1	0	0	0	5937	768	27	1	6198	1	FLNC	7	128492929	Missense_Mutation	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10	80214008	128492929	30645734	13	1202											
PPP1R3B	79660	hgsc.bcm.edu	37	8	8998922	8998922	+	Silent	SNP	C	C	T			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr8:8998922C>T	ENST00000310455.3	-	2	390	c.240G>A	c.(238-240)tcG>tcA	p.S80S	PPP1R3B_ENST00000519699.1_Silent_p.S80S|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	80					glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		CATCGAATTCCGAGAACACTT	0.532																																																0													117	110	113					8																	8998922		2203	4300	6503	SO:0001819	synonymous_variant	79660			AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.240G>A	chr8.hg19:g.8998922C>T			B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	hg19	CCDS5973.1																																																																																				0.532	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		T	8998922	C	T	8998922	2	4	17	1	0	0	0	0	0	0	0	1	12377	639	23	1		1	PPP1R3B	8	8998922	Silent	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10		8998922	137365100	14	1203											
FAM73B	84895	hgsc.bcm.edu	37	9	131832229	131832229	+	Silent	SNP	C	C	G	rs371991039		TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr9:131832229C>G	ENST00000358369.4	+	15	1786	c.1560C>G	c.(1558-1560)gtC>gtG	p.V520V	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	520					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TTGCTGAAGTCTGTGCTTTCT	0.562																																																0													213	204	207					9																	131832229		2203	4300	6503	SO:0001819	synonymous_variant	84895			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1560C>G	chr9.hg19:g.131832229C>G			Q8NBM3|Q8TEJ6|Q969E6	Silent	SNP	ENST00000358369.4	hg19	CCDS6917.1																																																																																				0.562	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		G	131832229	C	G	131832229	2	3	17	1	0	0	0	0	0	0	0	1	5620	900	32	4		4	FAM73B	9	131832229	Silent	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10		131832229	9381202	15	1204											
ARRDC1	92714	hgsc.bcm.edu	37	9	140508149	140508149	+	Silent	SNP	C	C	G			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr9:140508149C>G	ENST00000371421.4	+	4	427	c.363C>G	c.(361-363)tcC>tcG	p.S121S	C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	121						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CACGGTTTTCCAAGGATCACA	0.572																																																0													189	162	171					9																	140508149		2203	4300	6503	SO:0001819	synonymous_variant	92714			AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"alpha-arrestin 1"					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.363C>G	chr9.hg19:g.140508149C>G				Silent	SNP	ENST00000371421.4	hg19	CCDS7049.1																																																																																				0.572	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		G	140508149	C	G	140508149	2	3	17	1	0	0	0	0	0	0	0	1	982	581	21	4		4	ARRDC1	9	140508149	Silent	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10	8675920	140508149	705282	16	1205											
SNX19	399979	hgsc.bcm.edu	37	11	130781599	130781599	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr11:130781599C>T	ENST00000265909.4	-	2	2311	c.1742G>A	c.(1741-1743)cGt>cAt	p.R581H	SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000545537.1_5'Flank|SNX19_ENST00000533214.1_Missense_Mutation_p.R581H|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.R24H	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	581	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCGATAGCGACGATTCACAGT	0.512																																																0													111	107	108					11																	130781599		2201	4297	6498	SO:0001583	missense	399979			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1742G>A	chr11.hg19:g.130781599C>T	ENSP00000265909:p.Arg581His		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	hg19	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	35	5.437081	0.96168	.	.	ENSG00000120451	ENST00000265909;ENST00000539184;ENST00000533214	T;T;T	0.62364	0.03;0.03;0.03	5.53	5.53	0.82687	Phox homologous domain (5);	0.050680	0.85682	D	0.000000	D	0.82440	0.5037	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.84878	0.0829	10	0.87932	D	0	-16.4214	19.466	0.94939	0.0:1.0:0.0:0.0	.	24;581;581	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	H	581;24;581	ENSP00000265909:R581H;ENSP00000443480:R24H;ENSP00000435390:R581H	ENSP00000265909:R581H	R	-	2	0	SNX19	130286809	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.372000	0.79612	2.607000	0.88179	0.655000	0.94253	CGT		0.512	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		T	130781599	C	T	130781599	3	4	17	1	0	0	0	0	1	0	0	0	14896	536	19	1	1276	1	SNX19	11	130781599	Missense_Mutation	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10		130781599	4224917	17	1206											
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	chr12.hg19:g.25398284C>A	ENSP00000256078:p.Gly12Val		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		A	25398284	C	A	25398284	3	1	17	1	0	0	0	0	1	0	0	0	8440	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10		25398284	108453611	18	1207											
PKP2	5318	hgsc.bcm.edu	37	12	32949084	32949084	+	Silent	SNP	G	G	T	rs369837002		TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr12:32949084G>T	ENST00000070846.6	-	12	2472	c.2448C>A	c.(2446-2448)acC>acA	p.T816T	PKP2_ENST00000340811.4_Silent_p.T772T	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	816					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGATGCCCCCGGTGTTTAGAA	0.498																																																0													148	134	139					12																	32949084		2203	4300	6503	SO:0001819	synonymous_variant	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2448C>A	chr12.hg19:g.32949084G>T			A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	hg19	CCDS8731.1																																																																																				0.498	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		T	32949084	G	T	32949084	2	4	17	1	0	0	0	0	0	0	0	1	11987	1103	39	4		4	PKP2	12	32949084	Silent	SNP	G	TCGA-2Z-A9JN-01A-21D-A42J-10	7550800	32949084	100902811	19	1208											
PTPRR	5801	hgsc.bcm.edu	37	12	71155255	71155255	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr12:71155255G>A	ENST00000283228.2	-	4	1075	c.623C>T	c.(622-624)cCt>cTt	p.P208L	PTPRR_ENST00000342084.4_Missense_Mutation_p.P96L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	208					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACATACCTCAGGAGAGACTTC	0.378																																																0													126	129	128					12																	71155255		2203	4300	6503	SO:0001583	missense	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.623C>T	chr12.hg19:g.71155255G>A	ENSP00000283228:p.Pro208Leu		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	hg19	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235084	0.39498	.	.	ENSG00000153233	ENST00000283228;ENST00000342084	T;T	0.32515	1.45;1.45	5.68	5.68	0.88126	.	0.127647	0.35466	U	0.003200	T	0.44664	0.1304	L	0.51422	1.61	0.80722	D	1	P;D	0.56521	0.617;0.976	B;P	0.52481	0.121;0.7	T	0.35351	-0.9792	10	0.87932	D	0	-6.8931	19.7965	0.96487	0.0:0.0:1.0:0.0	.	96;208	F5GXR7;Q15256	.;PTPRR_HUMAN	L	208;96	ENSP00000283228:P208L;ENSP00000339605:P96L	ENSP00000283228:P208L	P	-	2	0	PTPRR	69441522	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	7.920000	0.87521	2.686000	0.91538	0.448000	0.29417	CCT		0.378	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		A	71155255	G	A	71155255	3	1	17	1	0	0	0	0	1	0	0	0	12816	1000	35	2	1394	2	PTPRR	12	71155255	Missense_Mutation	SNP	G	TCGA-2Z-A9JN-01A-21D-A42J-10	38206171	71155255	62696640	20	1209											
HSPH1	10808	hgsc.bcm.edu	37	13	31722181	31722181	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr13:31722181delA	ENST00000320027.5	-	10	1637	c.1293delT	c.(1291-1293)gttfs	p.V431fs	HSPH1_ENST00000429785.2_Frame_Shift_Del_p.V250fs|HSPH1_ENST00000380406.5_Frame_Shift_Del_p.V390fs|HSPH1_ENST00000445273.2_Frame_Shift_Del_p.V433fs|HSPH1_ENST00000380405.4_Frame_Shift_Del_p.V431fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	431					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GAAAGGTGAGAACTTTGGAGA	0.403																																																0													133	149	144					13																	31722181		2203	4300	6503	SO:0001589	frameshift_variant	10808			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1293delT	chr13.hg19:g.31722181delA	ENSP00000318687:p.Val431fs		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Frame_Shift_Del	DEL	ENST00000320027.5	hg19	CCDS9340.1																																																																																				0.403	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			-	31722181	A	-	31722181	7	5	17	1	0	1	0	1	0	0	0	0	7433	233	9	0	1319	0	HSPH1	13	31722181	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JN-01A-21D-A42J-10		31722181	83447697	21	1210											
IGDCC3	9543	hgsc.bcm.edu	37	15	65621833	65621833	+	Silent	SNP	T	T	G	rs375413312		TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr15:65621833T>G	ENST00000327987.4	-	13	2351	c.2100A>C	c.(2098-2100)ggA>ggC	p.G700G	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	700					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCCGCTGTCCCCGTCTCG	0.647																																																0								G		0,4394		0,0,2197	38	45	43		2100	-8	0	15		43	1,8579		0,1,4289	no	coding-synonymous	IGDCC3	NM_004884.3		0,1,6486	GG,GT,TT		0.0117,0.0,0.0077		700/815	65621833	1,12973	2197	4290	6487	SO:0001819	synonymous_variant	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2100A>C	chr15.hg19:g.65621833T>G			O95215	Silent	SNP	ENST00000327987.4	hg19	CCDS10205.1																																																																																				0.647	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		G	65621833	T	G	65621833	2	3	17	1	0	0	0	0	0	0	0	1	7570	1654	58	5		5	IGDCC3	15	65621833	Silent	SNP	T	TCGA-2Z-A9JN-01A-21D-A42J-10		65621833	36909559	22	1211											
DNAJA3	9093	hgsc.bcm.edu	37	16	4498749	4498752	+	Frame_Shift_Del	DEL	CAGA	CAGA	-	rs368706161		TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	CAGA	CAGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr16:4498749_4498752delCAGA	ENST00000262375.6	+	9	1218_1221	c.1141_1144delCAGA	c.(1141-1146)cagacafs	p.QT381fs	DNAJA3_ENST00000431375.2_Frame_Shift_Del_p.QT228fs|DNAJA3_ENST00000355296.4_Frame_Shift_Del_p.QT381fs	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	381					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CCCTGGGACTCAGACAGACCAGAA	0.461																																																0																																										SO:0001589	frameshift_variant	9093			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"Heat shock proteins / DNAJ (HSP40)"	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.1141_1144delCAGA	chr16.hg19:g.4498753_4498756delCAGA	ENSP00000262375:p.Gln381fs		B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Frame_Shift_Del	DEL	ENST00000262375.6	hg19	CCDS10515.1																																																																																				0.461	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			-	4498752	CAGA	-	4498749	7	5	17	1	0	1	0	1	0	0	0	0	4615	827	29	0	1175	0	DNAJA3	16	4498749	Frame_Shift_Del	DEL	CAGA	TCGA-2Z-A9JN-01A-21D-A42J-10		4498749	85856004	23	1212											
CDH8	1006	hgsc.bcm.edu	37	16	61687964	61687964	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr16:61687964C>A	ENST00000577390.1	-	12	2902	c.1948G>T	c.(1948-1950)Gaa>Taa	p.E650*	CDH8_ENST00000299345.6_Nonsense_Mutation_p.E650*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.E650*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	650					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTAATGGTTCATTTTTATGC	0.398																																																0													72	71	71					16																	61687964		2203	4300	6503	SO:0001587	stop_gained	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1948G>T	chr16.hg19:g.61687964C>A	ENSP00000462701:p.Glu650*		B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	ENST00000577390.1	hg19	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	47	13.421152	0.99741	.	.	ENSG00000150394	ENST00000299345	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	.	.	.	X	650	.	ENSP00000299345:E650X	E	-	1	0	CDH8	60245465	1.000000	0.71417	0.851000	0.33527	0.702000	0.40608	7.770000	0.85390	2.679000	0.91253	0.655000	0.94253	GAA		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		A	61687964	C	A	61687964	4	1	17	1	0	0	0	0	0	1	0	0	3118	835	29	4	455	4	CDH8	16	61687964	Nonsense_Mutation	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10	57189215	61687964	28666789	24	1213											
KRTAP4-11	653240	hgsc.bcm.edu	37	17	39274266	39274266	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr17:39274266C>T	ENST00000391413.2	-	1	340	c.302G>A	c.(301-303)cGc>cAc	p.R101H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	101	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcatctggggcggcagcaAGT	0.647																																																0													5	9	8					17																	39274266		655	1560	2215	SO:0001583	missense	653240			AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.302G>A	chr17.hg19:g.39274266C>T	ENSP00000375232:p.Arg101His		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	hg19	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249110	0.22880	.	.	ENSG00000212721	ENST00000391413	T	0.00638	6.04	3.99	1.96	0.26148	.	1.399950	0.05646	U	0.584357	T	0.01189	0.0039	M	0.78456	2.415	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.50550	-0.8815	10	0.42905	T	0.14	.	3.6707	0.08273	0.1929:0.5877:0.0:0.2193	.	101	Q9BYQ6	KR411_HUMAN	H	101	ENSP00000375232:R101H	ENSP00000375232:R101H	R	-	2	0	KRTAP4-11	36527792	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.701000	0.05075	0.180000	0.19960	-0.192000	0.12808	CGC		0.647	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			T	39274266	C	T	39274266	3	4	17	1	0	0	0	0	1	0	0	0	8551	768	27	1	289	1	KRTAP4-11	17	39274266	Missense_Mutation	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10		39274266	41920944	25	1214											
ZNF536	9745	hgsc.bcm.edu	37	19	30935837	30935837	+	Silent	SNP	C	C	T			TCGA-2Z-A9JN-01A-21D-A42J-10	TCGA-2Z-A9JN-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	050ee89a-518f-41ea-942d-90fbd6889673	fb9e10b8-d6e8-48d5-a356-cd64dd61c5b4	g.chr19:30935837C>T	ENST00000355537.3	+	2	1515	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	456					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G456G(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGGCAAGGGCGAGCTGCCCA	0.647																																																1	Substitution - coding silent(1)	large_intestine(1)											28	30	29					19																	30935837		2199	4298	6497	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1368C>T	chr19.hg19:g.30935837C>T			A2RU18	Silent	SNP	ENST00000355537.3	hg19	CCDS32984.1																																																																																				0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	30935837	C	T	30935837	2	4	17	1	0	0	0	0	0	0	0	1	17979	755	27	1		1	ZNF536	19	30935837	Silent	SNP	C	TCGA-2Z-A9JN-01A-21D-A42J-10		30935837	28193146	26	1215											
OTUD3	23252	hgsc.bcm.edu	37	1	20233044	20233044	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr1:20233044G>A	ENST00000375120.3	+	7	956	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	319					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCAGGACCGAAAACAATAA	0.517																																																0													103	105	104					1																	20233044		1965	4159	6124	SO:0001583	missense	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.955G>A	chr1.hg19:g.20233044G>A	ENSP00000364261:p.Glu319Lys		O75047	Missense_Mutation	SNP	ENST00000375120.3	hg19	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	6.303	0.424020	0.11928	.	.	ENSG00000169914	ENST00000375120	T	0.22945	1.93	5.88	5.88	0.94601	.	0.213831	0.47852	D	0.000207	T	0.21841	0.0526	L	0.47716	1.5	0.51012	D	0.999906	B	0.28880	0.226	B	0.20184	0.028	T	0.04796	-1.0926	10	0.07990	T	0.79	.	16.9476	0.86233	0.0:0.0:1.0:0.0	.	319	Q5T2D3	OTUD3_HUMAN	K	319	ENSP00000364261:E319K	ENSP00000364261:E319K	E	+	1	0	OTUD3	20105631	0.995000	0.38212	0.187000	0.23214	0.047000	0.14425	4.223000	0.58587	2.785000	0.95823	0.650000	0.86243	GAA		0.517	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			A	20233044	G	A	20233044	3	1	18	1	0	0	0	0	1	0	0	0	11315	1059	37	1	981	1	OTUD3	1	20233044	Missense_Mutation	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10		20233044	229017577	1	1216											
INADL	10207	hgsc.bcm.edu	37	1	62253584	62253584	+	Silent	SNP	C	C	G			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr1:62253584C>G	ENST00000371158.2	+	8	1122	c.1008C>G	c.(1006-1008)ccC>ccG	p.P336P	INADL_ENST00000316485.6_Silent_p.P336P	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	336					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGTCACCCCCCCTGCCCCTG	0.502																																																0													88	80	83					1																	62253584		2203	4300	6503	SO:0001819	synonymous_variant	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1008C>G	chr1.hg19:g.62253584C>G			O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	hg19	CCDS617.2																																																																																				0.502	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		G	62253584	C	G	62253584	2	3	18	1	0	0	0	0	0	0	0	1	7733	610	22	4		4	INADL	1	62253584	Silent	SNP	C	TCGA-2Z-A9JO-01A-11D-A42J-10	42020540	62253584	186997037	2	1217											
ATG4C	84938	hgsc.bcm.edu	37	1	63294738	63294738	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr1:63294738A>G	ENST00000317868.4	+	7	1031	c.824A>G	c.(823-825)cAg>cGg	p.Q275R	ATG4C_ENST00000371120.3_Missense_Mutation_p.Q275R	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	275					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						ATTGATAAACAGAGTGCTTCC	0.299																																																0													66	69	68					1																	63294738		2203	4300	6503	SO:0001583	missense	84938			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)"	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.824A>G	chr1.hg19:g.63294738A>G	ENSP00000322159:p.Gln275Arg		A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	hg19	CCDS623.1	.	.	.	.	.	.	.	.	.	.	A	9.217	1.032295	0.19590	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025;ENST00000414558	T;T	0.40756	1.02;1.02	5.69	4.49	0.54785	.	0.258613	0.39615	N	0.001310	T	0.26376	0.0644	L	0.54323	1.7	0.38573	D	0.949985	B	0.23650	0.089	B	0.38156	0.266	T	0.09314	-1.0680	10	0.11794	T	0.64	-11.6012	11.6985	0.51556	0.8677:0.0:0.0:0.1323	.	275	Q96DT6	ATG4C_HUMAN	R	275;275;275;19	ENSP00000322159:Q275R;ENSP00000360161:Q275R	ENSP00000322159:Q275R	Q	+	2	0	ATG4C	63067326	1.000000	0.71417	0.934000	0.37439	0.772000	0.43724	5.596000	0.67570	2.162000	0.67917	0.533000	0.62120	CAG		0.299	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		G	63294738	A	G	63294738	3	3	18	1	0	0	0	0	1	0	0	0	1098	188	7	3	846	3	ATG4C	1	63294738	Missense_Mutation	SNP	A	TCGA-2Z-A9JO-01A-11D-A42J-10	1041154	63294738	185955883	3	1218											
FMO2	2327	hgsc.bcm.edu	37	1	171162500	171162500	+	Silent	SNP	T	T	C			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr1:171162500T>C	ENST00000209929.7	+	3	317	c.159T>C	c.(157-159)agT>agC	p.S53S	FMO2_ENST00000441535.1_Silent_p.S53S|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	53					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCCGAGCAAGTATCTATCAAT	0.348																																																0													111	111	111					1																	171162500		2203	4300	6503	SO:0001819	synonymous_variant	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.159T>C	chr1.hg19:g.171162500T>C			Q53XR0	Silent	SNP	ENST00000209929.7	hg19	CCDS1293.1																																																																																				0.348	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		C	171162500	T	C	171162500	2	2	18	1	0	0	0	0	0	0	0	1	5957	1635	57	3		3	FMO2	1	171162500	Silent	SNP	T	TCGA-2Z-A9JO-01A-11D-A42J-10	107867762	171162500	78088121	4	1219											
MAPRE3	22924	hgsc.bcm.edu	37	2	27247068	27247072	+	Frame_Shift_Del	DEL	CAACC	CAACC	-			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	CAACC	CAACC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr2:27247068_27247072delCAACC	ENST00000233121.2	+	4	570_574	c.372_376delCAACC	c.(370-378)tacaaccctfs	p.NP125fs	MAPRE3_ENST00000402218.1_Frame_Shift_Del_p.NP125fs|MAPRE3_ENST00000405074.3_Frame_Shift_Del_p.NP125fs			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	125					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAGGATTACAACCCTCTGCTGGC	0.434																																																0																																										SO:0001589	frameshift_variant	22924			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.372_376delCAACC	chr2.hg19:g.27247068_27247072delCAACC	ENSP00000233121:p.Asn125fs		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Frame_Shift_Del	DEL	ENST00000233121.2	hg19	CCDS1731.1																																																																																				0.434	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		-	27247072	CAACC	-	27247068	7	5	18	1	0	1	0	1	0	0	0	0	9298	489	17	0	382	0	MAPRE3	2	27247068	Frame_Shift_Del	DEL	CAACC	TCGA-2Z-A9JO-01A-11D-A42J-10		27247068	215952305	5	1220											
ATP6V1E2	90423	hgsc.bcm.edu	37	2	46739168	46739179	+	Stop_Codon_Del	DEL	AGGCTTATATAA	AGGCTTATATAA	-			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	AGGCTTATATAA	AGGCTTATATAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr2:46739168_46739179delAGGCTTATATAA	ENST00000306448.4	-	0	1785_1796				ATP6V1E2_ENST00000522587.1_Stop_Codon_Del	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCCCAGAGGCTTATATAAAGAACTTTCTGT	0.406																																																0																																										SO:0001567	stop_retained_variant	90423			BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"ATPases / V-type"	18125	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	Exception_encountered	chr2.hg19:g.46739168_46739179delAGGCTTATATAA	Exception_encountered			Frame_Shift_Del	DEL	ENST00000306448.4	hg19	CCDS1826.1																																																																																				0.406	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653		-	46739179	AGGCTTATATAA	-	46739168	7	5	18	1	0	1	0	1	0	0	0	0	1184	1218	42	0	1	0	ATP6V1E2	2	46739168	Stop_Codon_Del	DEL	AGGCTTATATAA	TCGA-2Z-A9JO-01A-11D-A42J-10	19492100	46739168	196460205	6	1221											
ZAP70	7535	hgsc.bcm.edu	37	2	98354318	98354318	+	Silent	SNP	C	C	T			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr2:98354318C>T	ENST00000264972.5	+	12	1796	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.V401V|ZAP70_ENST00000451498.2_Silent_p.V220V	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	527	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCTATGGGGTCACCATGTGGG	0.647																																																0													121	129	127					2																	98354318		2203	4300	6503	SO:0001819	synonymous_variant	7535			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1581C>T	chr2.hg19:g.98354318C>T			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	hg19	CCDS33254.1																																																																																				0.647	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			T	98354318	C	T	98354318	2	4	18	1	0	0	0	0	0	0	0	1	17519	813	29	2		2	ZAP70	2	98354318	Silent	SNP	C	TCGA-2Z-A9JO-01A-11D-A42J-10	51615150	98354318	144845055	7	1222											
MYO7B	4648	hgsc.bcm.edu	37	2	128390900	128390900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr2:128390900delA	ENST00000409816.2	+	38	5427	c.5395delA	c.(5395-5397)atcfs	p.I1799fs	MYO7B_ENST00000428314.1_Frame_Shift_Del_p.I1799fs|MYO7B_ENST00000389524.4_Frame_Shift_Del_p.I1800fs|MYO7B_ENST00000409090.1_Frame_Shift_Del_p.I652fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1799	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.|MyTH4 3. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGTCTCCCGCATCTGCCACAA	0.662																																																0													49	56	53					2																	128390900		2095	4212	6307	SO:0001589	frameshift_variant	4648				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.5395delA	chr2.hg19:g.128390900delA	ENSP00000386461:p.Ile1799fs		Q14786|Q8TEE1	Frame_Shift_Del	DEL	ENST00000409816.2	hg19	CCDS46405.1																																																																																				0.662	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		-	128390900	A	-	128390900	7	5	18	1	0	1	0	1	0	0	0	0	10085	217	8	0	5545	0	MYO7B	2	128390900	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JO-01A-11D-A42J-10	30036582	128390900	114808473	8	1223											
NEB	4703	hgsc.bcm.edu	37	2	152410531	152410531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr2:152410531G>T	ENST00000172853.10	-	98	14481	c.14334C>A	c.(14332-14334)taC>taA	p.Y4778*	NEB_ENST00000427231.2_Nonsense_Mutation_p.Y6479*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Y6479*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Y6479*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Y4778*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Y6479*			P20929	NEBU_HUMAN	nebulin	4778					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAACTGATCTGTACAGGCGCT	0.438																																																0													140	133	135					2																	152410531		1915	4127	6042	SO:0001587	stop_gained	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14334C>A	chr2.hg19:g.152410531G>T	ENSP00000172853:p.Tyr4778*		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	hg19		.	.	.	.	.	.	.	.	.	.	G	55	24.727022	0.99962	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.	.	.	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1907	0.65637	0.0716:0.0:0.9284:0.0	.	.	.	.	X	4778;6479;6479;827;1209;4778	.	ENSP00000172853:Y4778X	Y	-	3	2	NEB	152118777	1.000000	0.71417	0.999000	0.59377	0.573000	0.36030	5.221000	0.65272	1.307000	0.44944	0.655000	0.94253	TAC		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152410531	G	T	152410531	4	4	18	1	0	0	0	0	0	1	0	0	10304	1372	48	4	6477	4	NEB	2	152410531	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10	24019631	152410531	90788842	9	1224											
ALS2CR11	151254	hgsc.bcm.edu	37	2	202483729	202483729	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr2:202483729delT	ENST00000286195.3	-	1	169	c.125delA	c.(124-126)cacfs	p.H42fs	ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.H42fs|ALS2CR11_ENST00000450242.1_Frame_Shift_Del_p.H42fs|ALS2CR11_ENST00000439802.1_Frame_Shift_Del_p.H42fs	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	42										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCCTTTAATGTGCATGATATC	0.607																																																0													94	90	91					2																	202483729		2203	4300	6503	SO:0001589	frameshift_variant	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.125delA	chr2.hg19:g.202483729delT	ENSP00000286195:p.His42fs		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	hg19	CCDS2349.1																																																																																				0.607	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		-	202483729	T	-	202483729	7	5	18	1	0	1	0	1	0	0	0	0	552	1696	59	0	5548	0	ALS2CR11	2	202483729	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JO-01A-11D-A42J-10	50073198	202483729	40715644	10	1225											
PROM1	8842	hgsc.bcm.edu	37	4	16002183	16002183	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr4:16002183A>T	ENST00000510224.1	-	14	1762	c.1514T>A	c.(1513-1515)tTt>tAt	p.F505Y	PROM1_ENST00000539194.1_Missense_Mutation_p.F505Y|PROM1_ENST00000508167.1_Missense_Mutation_p.F496Y|PROM1_ENST00000505450.1_Missense_Mutation_p.F496Y|PROM1_ENST00000540805.1_Missense_Mutation_p.F505Y|PROM1_ENST00000543373.1_Missense_Mutation_p.F496Y|PROM1_ENST00000447510.2_Missense_Mutation_p.F505Y			O43490	PROM1_HUMAN	prominin 1	505					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACCAAAGACAAAGGTAAGAAC	0.343																																																0													76	70	72					4																	16002183		1837	4094	5931	SO:0001583	missense	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1514T>A	chr4.hg19:g.16002183A>T	ENSP00000426809:p.Phe505Tyr		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	hg19	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.335153	0.60853	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	M	0.83603	2.65	0.54753	D	0.999987	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.995;1.0	T	0.83241	-0.0058	10	0.66056	D	0.02	-26.3108	14.25	0.66013	1.0:0.0:0.0:0.0	.	496;505;496;505;496;505	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	Y	505;505;505;496;496;505;496	ENSP00000415481:F505Y;ENSP00000438045:F505Y;ENSP00000443620:F505Y;ENSP00000426090:F496Y;ENSP00000427346:F496Y;ENSP00000426809:F505Y;ENSP00000445526:F496Y	ENSP00000415481:F505Y	F	-	2	0	PROM1	15611281	1.000000	0.71417	0.152000	0.22495	0.088000	0.18126	8.629000	0.90983	1.994000	0.58287	0.528000	0.53228	TTT		0.343	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		T	16002183	A	T	16002183	3	4	18	1	0	0	0	0	1	0	0	0	12560	14	1	5	1139	5	PROM1	4	16002183	Missense_Mutation	SNP	A	TCGA-2Z-A9JO-01A-11D-A42J-10		16002183	175152093	11	1226											
MANBA	4126	hgsc.bcm.edu	37	4	103560989	103560989	+	Missense_Mutation	SNP	G	G	T	rs142814374		TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr4:103560989G>T	ENST00000226578.4	-	14	1994	c.1895C>A	c.(1894-1896)aCa>aAa	p.T632K	MANBA_ENST00000505239.1_Missense_Mutation_p.T575K	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	632					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TTCAGTTTCTGTTTTGACACA	0.463																																																0													119	102	107					4																	103560989		2203	4300	6503	SO:0001583	missense	4126				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1895C>A	chr4.hg19:g.103560989G>T	ENSP00000226578:p.Thr632Lys		Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	hg19	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791881	0.70452	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.55588	0.51;0.51	5.7	2.08	0.27032	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.570170	0.20271	N	0.095654	T	0.64659	0.2618	M	0.90483	3.12	0.34404	D	0.695608	D;P	0.56035	0.974;0.955	P;P	0.50537	0.556;0.643	T	0.74253	-0.3725	10	0.49607	T	0.09	-11.3782	9.088	0.36592	0.3294:0.0:0.6706:0.0	.	575;632	E9PFW2;O00462	.;MANBA_HUMAN	K	632;575	ENSP00000226578:T632K;ENSP00000427322:T575K	ENSP00000226578:T632K	T	-	2	0	MANBA	103780037	0.996000	0.38824	0.996000	0.52242	0.991000	0.79684	0.723000	0.25939	0.363000	0.24346	0.650000	0.86243	ACA		0.463	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			T	103560989	G	T	103560989	3	4	18	1	0	0	0	0	1	0	0	0	9221	1377	48	4	760	4	MANBA	4	103560989	Missense_Mutation	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10	87558806	103560989	87593287	12	1227											
C5orf42	65250	hgsc.bcm.edu	37	5	37170251	37170251	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr5:37170251A>C	ENST00000508244.1	-	32	6447	c.6354T>G	c.(6352-6354)ttT>ttG	p.F2118L	C5orf42_ENST00000274258.7_Missense_Mutation_p.F998L|C5orf42_ENST00000425232.2_Missense_Mutation_p.F2118L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2118						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTGGTTTAATAAAAAATCTCT	0.438																																																0													165	168	167					5																	37170251		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6354T>G	chr5.hg19:g.37170251A>C	ENSP00000421690:p.Phe2118Leu		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	12.09	1.833277	0.32421	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.21543	2.01;2.01;2.0;2.01	5.12	-6.03	0.02185	.	1.591830	0.03542	N	0.224092	T	0.12646	0.0307	L	0.38838	1.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24548	-1.0157	10	0.11485	T	0.65	.	4.8926	0.13735	0.4906:0.0:0.278:0.2315	.	2118;998	E9PH94;Q9H799	.;CE042_HUMAN	L	2118;2118;998;1166;998	ENSP00000421690:F2118L;ENSP00000389014:F2118L;ENSP00000274258:F998L;ENSP00000424223:F1166L	ENSP00000274258:F998L	F	-	3	2	C5orf42	37206008	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-1.670000	0.01956	-1.006000	0.03412	-0.375000	0.07067	TTT		0.438	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		C	37170251	A	C	37170251	3	2	18	1	0	0	0	0	1	0	0	0	2303	359	13	5	3319	5	C5orf42	5	37170251	Missense_Mutation	SNP	A	TCGA-2Z-A9JO-01A-11D-A42J-10		37170251	143745009	13	1228											
LRRC1	55227	hgsc.bcm.edu	37	6	53784349	53784349	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr6:53784349T>A	ENST00000370888.1	+	12	1437	c.1160T>A	c.(1159-1161)cTa>cAa	p.L387Q	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	387						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GCTCTGTGGCTATCTGACAAC	0.428																																																0													87	82	83					6																	53784349		1935	4146	6081	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1160T>A	chr6.hg19:g.53784349T>A	ENSP00000359925:p.Leu387Gln		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	hg19	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471168	0.84533	.	.	ENSG00000137269	ENST00000370888	D	0.91068	-2.78	5.69	5.69	0.88448	.	0.177730	0.37761	N	0.001948	D	0.96445	0.8840	H	0.95365	3.66	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97646	1.0151	10	0.87932	D	0	.	15.135	0.72558	0.0:0.0:0.0:1.0	.	387	Q9BTT6	LRRC1_HUMAN	Q	387	ENSP00000359925:L387Q	ENSP00000359925:L387Q	L	+	2	0	LRRC1	53892308	1.000000	0.71417	0.648000	0.29521	0.953000	0.61014	7.698000	0.84413	2.163000	0.67991	0.533000	0.62120	CTA		0.428	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		A	53784349	T	A	53784349	3	1	18	1	0	0	0	0	1	0	0	0	8968	1522	53	5	1206	5	LRRC1	6	53784349	Missense_Mutation	SNP	T	TCGA-2Z-A9JO-01A-11D-A42J-10		53784349	117330718	14	1229											
MPP6	51678	hgsc.bcm.edu	37	7	24690128	24690128	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr7:24690128A>G	ENST00000222644.5	+	5	698	c.448A>G	c.(448-450)Aat>Gat	p.N150D	MPP6_ENST00000409761.1_Missense_Mutation_p.N38D|MPP6_ENST00000396475.2_Missense_Mutation_p.N150D			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GGTTGAAAATAATGATCTGGT	0.353																																																0													69	72	71					7																	24690128		2203	4300	6503	SO:0001583	missense	51678			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.448A>G	chr7.hg19:g.24690128A>G	ENSP00000222644:p.Asn150Asp		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	hg19	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962360	0.53400	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	6.06	6.06	0.98353	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000009	T	0.14270	0.0345	N	0.04132	-0.27	0.41810	D	0.989969	B	0.09022	0.002	B	0.15484	0.013	T	0.12502	-1.0545	10	0.32370	T	0.25	.	15.1804	0.72952	1.0:0.0:0.0:0.0	.	150	Q9NZW5	MPP6_HUMAN	D	150;150;38;150;150	ENSP00000395859:N150D;ENSP00000222644:N150D;ENSP00000386262:N38D;ENSP00000379737:N150D;ENSP00000391020:N150D	ENSP00000222644:N150D	N	+	1	0	MPP6	24656653	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.920000	0.75799	2.324000	0.78689	0.533000	0.62120	AAT		0.353	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			G	24690128	A	G	24690128	3	3	18	1	0	0	0	0	1	0	0	0	9740	362	13	3	462	3	MPP6	7	24690128	Missense_Mutation	SNP	A	TCGA-2Z-A9JO-01A-11D-A42J-10		24690128	134448535	15	1230											
TBRG4	9238	hgsc.bcm.edu	37	7	45148711	45148711	+	Silent	SNP	T	T	C			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr7:45148711T>C	ENST00000258770.3	-	2	247	c.126A>G	c.(124-126)tcA>tcG	p.S42S	TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000361278.3_Silent_p.S42S|TBRG4_ENST00000395655.4_Silent_p.S42S|TBRG4_ENST00000494076.1_Silent_p.S42S	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	42					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GTGAGGTGGCTGAGGAAGTCA	0.587																																																0													99	90	93					7																	45148711		2203	4300	6503	SO:0001819	synonymous_variant	9238			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.126A>G	chr7.hg19:g.45148711T>C			A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Silent	SNP	ENST00000258770.3	hg19	CCDS5501.1																																																																																				0.587	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		C	45148711	T	C	45148711	2	2	18	1	0	0	0	0	0	0	0	1	15654	1567	55	3		3	TBRG4	7	45148711	Silent	SNP	T	TCGA-2Z-A9JO-01A-11D-A42J-10	20458583	45148711	113989952	16	1231											
MTUS1	57509	hgsc.bcm.edu	37	8	17611702	17611702	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr8:17611702C>T	ENST00000262102.6	-	2	1839	c.1615G>A	c.(1615-1617)Gcc>Acc	p.A539T	MTUS1_ENST00000381862.3_Missense_Mutation_p.A539T|MTUS1_ENST00000519263.1_Missense_Mutation_p.A539T|MTUS1_ENST00000381869.3_Missense_Mutation_p.A539T	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	539					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGTGATGAGGCACTGGTCTGC	0.423																																																0													219	211	214					8																	17611702		2079	4207	6286	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1615G>A	chr8.hg19:g.17611702C>T	ENSP00000262102:p.Ala539Thr		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	hg19	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378332	0.24944	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.35973	3.03;1.28;3.03;2.05	5.1	3.26	0.37387	.	0.753950	0.11344	N	0.573725	T	0.22666	0.0547	N	0.19112	0.55	0.09310	N	1	P;B;B	0.35872	0.525;0.102;0.102	B;B;B	0.36092	0.217;0.08;0.08	T	0.12837	-1.0532	10	0.30854	T	0.27	.	6.8492	0.24005	0.0:0.6996:0.1463:0.1542	.	539;539;539	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	T	539	ENSP00000371293:A539T;ENSP00000262102:A539T;ENSP00000430167:A539T;ENSP00000371286:A539T	ENSP00000262102:A539T	A	-	1	0	MTUS1	17655982	0.000000	0.05858	0.003000	0.11579	0.752000	0.42762	-0.236000	0.09003	0.824000	0.34613	0.650000	0.86243	GCC		0.423	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		T	17611702	C	T	17611702	3	4	18	1	0	0	0	0	1	0	0	0	9967	710	25	2	2572	2	MTUS1	8	17611702	Missense_Mutation	SNP	C	TCGA-2Z-A9JO-01A-11D-A42J-10		17611702	128752320	17	1232											
ANK1	286	hgsc.bcm.edu	37	8	41583374	41583374	+	Missense_Mutation	SNP	G	G	A	rs368414600		TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr8:41583374G>A	ENST00000347528.4	-	6	600	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	ANK1_ENST00000396942.1_Missense_Mutation_p.R173C|ANK1_ENST00000396945.1_Missense_Mutation_p.R173C|ANK1_ENST00000265709.8_Missense_Mutation_p.R206C|ANK1_ENST00000379758.2_Missense_Mutation_p.R173C|ANK1_ENST00000289734.7_Missense_Mutation_p.R173C|ANK1_ENST00000352337.4_Missense_Mutation_p.R173C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	173	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCGGGAGGCGCACCTTCCCC	0.677																																																0								G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	85	54	64		517,616,517,517,517	5	1	8		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	173/1881,206/1898,173/1857,173/1882,173/1720	41583374	1,13005	2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.517C>T	chr8.hg19:g.41583374G>A	ENSP00000339620:p.Arg173Cys		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	hg19	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116615	0.94385	0.0	1.16E-4	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.84	4.96	0.65561	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.35624	0.0938	L	0.45137	1.4	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.993;0.98;1.0	T	0.11567	-1.0582	10	0.72032	D	0.01	.	16.3792	0.83439	0.0:0.0:0.8671:0.1329	.	206;173;173;173;173	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	C	173;173;173;173;173;173;206;173	ENSP00000339620:R173C;ENSP00000289734:R173C;ENSP00000369082:R173C;ENSP00000380149:R173C;ENSP00000380147:R173C;ENSP00000309131:R173C;ENSP00000265709:R206C	ENSP00000265709:R206C	R	-	1	0	ANK1	41702531	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.997000	0.88414	1.460000	0.47911	0.551000	0.68910	CGC		0.677	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41583374	G	A	41583374	3	1	18	1	0	0	0	0	1	0	0	0	620	1087	38	1	5630	1	ANK1	8	41583374	Missense_Mutation	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10	23971672	41583374	104780648	18	1233											
CACNB2	783	hgsc.bcm.edu	37	10	18550223	18550223	+	Intron	SNP	C	C	T			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr10:18550223C>T	ENST00000324631.7	+	2	273				CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377319.3_Missense_Mutation_p.R9C|CACNB2_ENST00000396576.2_Missense_Mutation_p.R9C|CACNB2_ENST00000377331.2_Intron|RP11-109I13.2_ENST00000457058.1_RNA|CACNB2_ENST00000352115.6_Intron	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTGGTGCATCGCCGGCGAGT	0.547																																																0													129	117	121					10																	18550223		1994	3661	5655	SO:0001627	intron_variant	783			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.213+110319C>T	chr10.hg19:g.18550223C>T			A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	hg19	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344707	0.61073	.	.	ENSG00000165995	ENST00000396576;ENST00000377319	D;D	0.83591	-1.74;-1.73	5.29	5.29	0.74685	.	.	.	.	.	D	0.88544	0.6465	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.973;0.988	D	0.89081	0.3476	9	0.72032	D	0.01	.	19.1238	0.93374	0.0:1.0:0.0:0.0	.	20;9	Q59H42;Q08289-6	.;.	C	9	ENSP00000379821:R9C;ENSP00000366536:R9C	ENSP00000366536:R9C	R	+	1	0	CACNB2	18590229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.481000	0.66826	2.752000	0.94435	0.557000	0.71058	CGC		0.547	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		T	18550223	C	T	18550223	1	4	18	0	1	0	0	0	0	0	0	0	2555	884	31	1		1	CACNB2	10	18550223	Intron	SNP	C	TCGA-2Z-A9JO-01A-11D-A42J-10		18550223	116984524	19	1234											
C10orf118	55088	hgsc.bcm.edu	37	10	115922396	115922396	+	Splice_Site	SNP	T	T	C			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr10:115922396T>C	ENST00000369287.3	-	2	898	c.632A>G	c.(631-633)aAg>aGg	p.K211R	C10orf118_ENST00000369286.1_Missense_Mutation_p.K211R|C10orf118_ENST00000369285.3_Missense_Mutation_p.K211R	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		211										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AAAAACTTACTTTTTTATGAT	0.313																																																0													27	27	27					10																	115922396		2200	4298	6498	SO:0001630	splice_region_variant	55088																														ENST00000369287.3:c.632+1A>G	chr10.hg19:g.115922396T>C			Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	hg19	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.656651	0.29425	.	.	ENSG00000165813	ENST00000369287;ENST00000430353;ENST00000369286;ENST00000369285	T;T;T	0.33216	1.42;1.42;1.42	5.48	1.79	0.24919	.	0.377613	0.32624	N	0.005859	T	0.16342	0.0393	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.08848	-1.0702	10	0.30078	T	0.28	.	5.0037	0.14277	0.1337:0.146:0.0:0.7202	.	211	Q7Z3E2	CJ118_HUMAN	R	211;317;211;211	ENSP00000358293:K211R;ENSP00000358292:K211R;ENSP00000358291:K211R	ENSP00000358291:K211R	K	-	2	0	C10orf118	115912386	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	1.291000	0.33330	0.053000	0.16036	-0.343000	0.07986	AAG		0.313	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1		Missense_Mutation	C	115922396	T	C	115922396	5	2	18	1	0	0	0	0	0	0	1	0	1589	1623	56	3	2124	3	C10orf118	10	115922396	Splice_Site	SNP	T	TCGA-2Z-A9JO-01A-11D-A42J-10	97372173	115922396	19612351	20	1235											
FAM160A2	84067	hgsc.bcm.edu	37	11	6236092	6236092	+	Silent	SNP	G	G	A			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr11:6236092G>A	ENST00000449352.2	-	10	2528	c.2265C>T	c.(2263-2265)aaC>aaT	p.N755N	FAM160A2_ENST00000265978.4_Silent_p.N769N|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	755					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATAGACGGAGTTCTGCAGCA	0.587																																																0													56	45	49					11																	6236092		2201	4296	6497	SO:0001819	synonymous_variant	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2265C>T	chr11.hg19:g.6236092G>A			Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	hg19	CCDS44530.1																																																																																				0.587	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		A	6236092	G	A	6236092	2	1	18	1	0	0	0	0	0	0	0	1	5471	1020	36	2		2	FAM160A2	11	6236092	Silent	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10		6236092	128770424	21	1236											
NPAT	4863	hgsc.bcm.edu	37	11	108043763	108043763	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr11:108043763C>T	ENST00000278612.8	-	13	2053	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	650	Required for acceleration of G1 phase.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCCTGAGCTTCATTTTCTGTA	0.368																																																0													53	50	51					11																	108043763		1833	4078	5911	SO:0001583	missense	4863			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1948G>A	chr11.hg19:g.108043763C>T	ENSP00000278612:p.Glu650Lys		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	hg19	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	7.695	0.691773	0.15039	.	.	ENSG00000149308	ENST00000278612	T	0.04083	3.71	6.08	3.87	0.44632	.	0.657735	0.15963	N	0.236168	T	0.02929	0.0087	N	0.19112	0.55	0.09310	N	1	B;B	0.17268	0.021;0.01	B;B	0.18561	0.022;0.009	T	0.46091	-0.9216	10	0.08179	T	0.78	-15.3657	6.6244	0.22820	0.1802:0.6533:0.0:0.1665	.	650;650	B9EG70;Q14207	.;NPAT_HUMAN	K	650	ENSP00000278612:E650K	ENSP00000278612:E650K	E	-	1	0	NPAT	107548973	0.118000	0.22208	0.385000	0.26158	0.799000	0.45148	0.125000	0.15749	1.555000	0.49500	0.655000	0.94253	GAA		0.368	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		T	108043763	C	T	108043763	3	4	18	1	0	0	0	0	1	0	0	0	10568	835	29	2	2359	2	NPAT	11	108043763	Missense_Mutation	SNP	C	TCGA-2Z-A9JO-01A-11D-A42J-10	101807671	108043763	26962753	22	1237											
FAM113B	91523	hgsc.bcm.edu	37	12	47629401	47629401	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr12:47629401G>T	ENST00000546455.1	+	4	1286	c.555G>T	c.(553-555)aaG>aaT	p.K185N	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.K185N			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	185							hydrolase activity (GO:0016787)										GGCGGCAGAAGGCCACCTTCC	0.577																																																0													32	27	29					12																	47629401		2203	4300	6503	SO:0001583	missense	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.555G>T	chr12.hg19:g.47629401G>T	ENSP00000446688:p.Lys185Asn		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	hg19	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794903	0.02862	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T;T	0.17054	2.3;2.3;2.3	0.427	-0.581	0.11713	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	4.839840	0.00674	N	0.000658	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B	0.31503	0.326	B	0.36845	0.234	T	0.14811	-1.0459	9	0.23891	T	0.37	12.6003	.	.	.	.	185	Q96HM7	F113B_HUMAN	N	185;185;65;65	ENSP00000446688:K185N;ENSP00000396040:K185N;ENSP00000448693:K65N	ENSP00000328560:K65N	K	+	3	2	FAM113B	45915668	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.398000	0.02509	-0.370000	0.08016	-0.363000	0.07495	AAG		0.577	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		T	47629401	G	T	47629401	3	4	18	1	0	0	0	0	1	0	0	0	5404	991	35	4	557	4	FAM113B	12	47629401	Missense_Mutation	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10		47629401	86222494	23	1238											
EEA1	8411	hgsc.bcm.edu	37	12	93171433	93171433	+	Silent	SNP	A	A	G			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr12:93171433A>G	ENST00000322349.8	-	27	4164	c.3900T>C	c.(3898-3900)ctT>ctC	p.L1300L		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1300					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CTTCTCCTTTAAGACATCTGG	0.333																																																0													82	70	74					12																	93171433		2203	4300	6503	SO:0001819	synonymous_variant	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3900T>C	chr12.hg19:g.93171433A>G			Q14221	Silent	SNP	ENST00000322349.8	hg19	CCDS31874.1																																																																																				0.333	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		G	93171433	A	G	93171433	2	3	18	1	0	0	0	0	0	0	0	1	4923	349	13	3		3	EEA1	12	93171433	Silent	SNP	A	TCGA-2Z-A9JO-01A-11D-A42J-10	45542032	93171433	40680462	24	1239											
PPP2R5E	5529	hgsc.bcm.edu	37	14	63842804	63842804	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr14:63842804G>A	ENST00000337537.3	-	14	1929	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.R367C|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.R438C	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	443					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AATTCTTCACGCTCCTTTTCT	0.328																																																0													166	145	152					14																	63842804		2203	4298	6501	SO:0001583	missense	5529			L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.1327C>T	chr14.hg19:g.63842804G>A	ENSP00000337641:p.Arg443Cys		A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	hg19	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413814	0.42817	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.86	5.86	0.93980	Armadillo-type fold (1);	0.111045	0.56097	D	0.000022	D	0.84633	0.5515	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.87143	0.2204	9	0.87932	D	0	-5.744	14.9745	0.71261	0.0:0.0:0.8574:0.1426	.	438;443	B7ZKK9;Q16537	.;2A5E_HUMAN	C	443;438;367	.	ENSP00000337641:R443C	R	-	1	0	PPP2R5E	62912557	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.260000	0.58835	2.776000	0.95493	0.650000	0.86243	CGT		0.328	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		A	63842804	G	A	63842804	3	1	18	1	0	0	0	0	1	0	0	0	12401	1087	38	1	80	1	PPP2R5E	14	63842804	Missense_Mutation	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10		63842804	43506736	25	1240											
RCCD1	91433	hgsc.bcm.edu	37	15	91500569	91500569	+	Silent	SNP	T	T	A			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr15:91500569T>A	ENST00000394258.2	+	3	595	c.393T>A	c.(391-393)gcT>gcA	p.A131A	RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000556618.1_Silent_p.A131A|AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000555155.1_Silent_p.A131A	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	131						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			AGGCCCAGGCTGGGAGGCTAC	0.731																																																0													10	9	10					15																	91500569		1982	3924	5906	SO:0001819	synonymous_variant	91433				CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.393T>A	chr15.hg19:g.91500569T>A			B2RTP9|Q29RX6	Silent	SNP	ENST00000394258.2	hg19	CCDS32333.1																																																																																				0.731	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544		A	91500569	T	A	91500569	2	1	18	1	0	0	0	0	0	0	0	1	13181	1567	55	5		5	RCCD1	15	91500569	Silent	SNP	T	TCGA-2Z-A9JO-01A-11D-A42J-10		91500569	11030823	26	1241											
PDILT	204474	hgsc.bcm.edu	37	16	20371931	20371931	+	Silent	SNP	G	G	A			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr16:20371931G>A	ENST00000302451.4	-	11	1713	c.1465C>T	c.(1465-1467)Ctg>Ttg	p.L489L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	489					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGGCTTTCCAGGAAGTCAGAG	0.473																																																0													218	198	205					16																	20371931		2203	4300	6503	SO:0001819	synonymous_variant	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1465C>T	chr16.hg19:g.20371931G>A			Q8IVQ5	Silent	SNP	ENST00000302451.4	hg19	CCDS10584.1																																																																																				0.473	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		A	20371931	G	A	20371931	2	1	18	1	0	0	0	0	0	0	0	1	11676	991	35	2		2	PDILT	16	20371931	Silent	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10		20371931	69982822	27	1242											
TK2	7084	hgsc.bcm.edu	37	16	66547633	66547633	+	Splice_Site	SNP	C	C	G			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr16:66547633C>G	ENST00000451102.2	-	9	1050		c.e9+1		TK2_ENST00000563369.2_Splice_Site|TK2_ENST00000568170.1_5'Flank|TK2_ENST00000527284.1_Splice_Site|TK2_ENST00000299697.7_Splice_Site|TK2_ENST00000544898.1_Splice_Site|TK2_ENST00000525974.1_Splice_Site|TK2_ENST00000417693.3_Splice_Site|RP11-403P17.5_ENST00000561728.1_Splice_Site|TK2_ENST00000545043.2_Splice_Site|TK2_ENST00000564917.1_Splice_Site|TK2_ENST00000527800.1_Splice_Site			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial						deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GTCTTACTTACCAGAACAGGG	0.537																																																0													70	61	64					16																	66547633		2201	4300	6501	SO:0001630	splice_region_variant	7084				CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.699+1G>C	chr16.hg19:g.66547633C>G			B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Splice_Site	SNP	ENST00000451102.2	hg19	CCDS10805.2	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741035	0.69304	.	.	ENSG00000166548	ENST00000299697;ENST00000417693;ENST00000545043;ENST00000451102;ENST00000527800;ENST00000527284;ENST00000544898;ENST00000525974	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6218	0.76813	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TK2	65105134	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.457000	0.66672	2.543000	0.85770	0.650000	0.86243	.		0.537	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4		Intron	G	66547633	C	G	66547633	5	3	18	1	0	0	0	0	0	0	1	0	15938	521	18	4	105	4	TK2	16	66547633	Splice_Site	SNP	C	TCGA-2Z-A9JO-01A-11D-A42J-10	46175702	66547633	23807120	28	1243											
TMCO7	79613	hgsc.bcm.edu	37	16	69117519	69117519	+	Silent	SNP	G	G	A	rs376805485		TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr16:69117519G>A	ENST00000261778.1	+	18	3252	c.3240G>A	c.(3238-3240)ctG>ctA	p.L1080L	TANGO6_ENST00000561931.1_3'UTR	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	1080						integral component of membrane (GO:0016021)											AAAACTTCCTGTTCCCTCCAC	0.587																																																0													44	46	45					16																	69117519		2029	4182	6211	SO:0001819	synonymous_variant	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.3240G>A	chr16.hg19:g.69117519G>A			Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	hg19	CCDS45516.1																																																																																				0.587	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		A	69117519	G	A	69117519	2	1	18	1	0	0	0	0	0	0	0	1	16006	1364	48	2		2	TMCO7	16	69117519	Silent	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10	2569886	69117519	21237234	29	1244											
SUPT6H	6830	hgsc.bcm.edu	37	17	27005195	27005195	+	Silent	SNP	A	A	C			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr17:27005195A>C	ENST00000314616.6	+	9	1384	c.1101A>C	c.(1099-1101)cgA>cgC	p.R367R	SUPT6H_ENST00000347486.4_Silent_p.R367R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	367	Interaction with IWS1. {ECO:0000250}.|Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCTTCATGCGAAATCAGCATT	0.493																																																0													68	67	67					17																	27005195		2203	4300	6503	SO:0001819	synonymous_variant	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1101A>C	chr17.hg19:g.27005195A>C			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	hg19	CCDS32596.1																																																																																				0.493	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		C	27005195	A	C	27005195	2	2	18	1	0	0	0	0	0	0	0	1	15405	233	9	5		5	SUPT6H	17	27005195	Silent	SNP	A	TCGA-2Z-A9JO-01A-11D-A42J-10		27005195	54190015	30	1245											
AKAP1	8165	hgsc.bcm.edu	37	17	55183561	55183561	+	Missense_Mutation	SNP	G	G	C	rs145117487		TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr17:55183561G>C	ENST00000337714.3	+	2	969	c.736G>C	c.(736-738)Ggg>Cgg	p.G246R	AKAP1_ENST00000539273.1_Missense_Mutation_p.G246R|AKAP1_ENST00000314126.3_Missense_Mutation_p.G246R|AKAP1_ENST00000571629.1_Missense_Mutation_p.G246R|AKAP1_ENST00000572557.1_Missense_Mutation_p.G246R	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	246					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGAAGATAAGGGGAAGAGCAG	0.542																																																0													104	111	109					17																	55183561		2203	4300	6503	SO:0001583	missense	8165			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.736G>C	chr17.hg19:g.55183561G>C	ENSP00000337736:p.Gly246Arg		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	hg19	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609976	0.28712	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.18016	2.5;2.24;2.5	6.05	3.76	0.43208	.	0.785841	0.12432	N	0.469465	T	0.16128	0.0388	L	0.60455	1.87	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.20240	-1.0281	10	0.51188	T	0.08	-8.8734	3.4974	0.07659	0.1622:0.1351:0.5635:0.1392	.	246	Q92667	AKAP1_HUMAN	R	246;246;288;246	ENSP00000337736:G246R;ENSP00000314075:G246R;ENSP00000443139:G246R	ENSP00000314075:G246R	G	+	1	0	AKAP1	52538560	0.001000	0.12720	0.006000	0.13384	0.048000	0.14542	0.325000	0.19628	1.575000	0.49775	0.655000	0.94253	GGG		0.542	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			C	55183561	G	C	55183561	3	2	18	1	0	0	0	0	1	0	0	0	445	1232	43	4	738	4	AKAP1	17	55183561	Missense_Mutation	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10	28178366	55183561	26011649	31	1246											
SOX9	6662	hgsc.bcm.edu	37	17	70117912	70117912	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr17:70117912A>G	ENST00000245479.2	+	1	752	c.380A>G	c.(379-381)tAc>tGc	p.Y127C		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	127					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCGGACCAGTACCCGCACTTG	0.701																																					Pancreas(42;83 1041 2320 35205 39456)											0													21	18	19					17																	70117912		2200	4297	6497	SO:0001583	missense	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.380A>G	chr17.hg19:g.70117912A>G	ENSP00000245479:p.Tyr127Cys		Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	hg19	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859113	0.71834	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.97870	-4.58	3.97	2.89	0.33648	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.96546	0.8873	N	0.21545	0.675	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	D	0.95255	0.8363	10	0.87932	D	0	.	8.8963	0.35467	0.9088:0.0:0.0912:0.0	.	127	P48436	SOX9_HUMAN	C	127	ENSP00000245479:Y127C	ENSP00000245479:Y127C	Y	+	2	0	SOX9	67629507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.049000	0.93837	0.430000	0.26230	0.358000	0.22013	TAC		0.701	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		G	70117912	A	G	70117912	3	3	18	1	0	0	0	0	1	0	0	0	14964	391	14	3	382	3	SOX9	17	70117912	Missense_Mutation	SNP	A	TCGA-2Z-A9JO-01A-11D-A42J-10	14934351	70117912	11077298	32	1247											
FXYD1	5348	hgsc.bcm.edu	37	19	35631004	35631004	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr19:35631004C>G	ENST00000588081.1	+	1	79	c.21C>G	c.(19-21)atC>atG	p.I7M	FXYD1_ENST00000455515.2_Missense_Mutation_p.I7M|FXYD1_ENST00000588715.1_Missense_Mutation_p.I7M|LGI4_ENST00000493050.1_Intron|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000351325.4_Missense_Mutation_p.I7M|FXYD1_ENST00000589209.1_Missense_Mutation_p.I7M|FXYD1_ENST00000588607.1_Missense_Mutation_p.I7M			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	7					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)	chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TTGGCCACATCTTGGTTTTCT	0.622																																																0													161	115	131					19																	35631004		2203	4300	6503	SO:0001583	missense	5348				CCDS12445.1	19q13.1	2008-08-01	2008-08-01			ENSG00000266964			4025	protein-coding gene	gene with protein product		602359	"phospholemman"	PLM		9169143	Standard	NM_005031		Approved		uc002nyc.3	O00168		ENST00000588081.1:c.21C>G	chr19.hg19:g.35631004C>G	ENSP00000467727:p.Ile7Met		A8K196	Missense_Mutation	SNP	ENST00000588081.1	hg19	CCDS12445.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085201	0.36758	.	.	ENSG00000221857	ENST00000351325;ENST00000455515	T;T	0.67865	-0.29;-0.29	4.13	3.08	0.35506	.	0.567371	0.14534	N	0.313662	T	0.54498	0.1862	.	.	.	0.80722	D	1	B	0.25169	0.119	B	0.19391	0.025	T	0.54384	-0.8302	9	0.56958	D	0.05	-1.9404	7.9651	0.30094	0.0:0.8864:0.0:0.1136	.	7	O00168	PLM_HUMAN	M	7	ENSP00000343314:I7M;ENSP00000393611:I7M	ENSP00000343314:I7M	I	+	3	3	FXYD1	40322844	0.927000	0.31430	0.815000	0.32552	0.900000	0.52787	3.568000	0.53820	1.096000	0.41439	0.579000	0.79373	ATC		0.622	FXYD1-007	KNOWN	alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460761.1	NM_021902		G	35631004	C	G	35631004	3	3	18	1	0	0	0	0	1	0	0	0	6119	903	32	4	23	4	FXYD1	19	35631004	Missense_Mutation	SNP	C	TCGA-2Z-A9JO-01A-11D-A42J-10		35631004	23497979	33	1248											
ZIM3	114026	hgsc.bcm.edu	37	19	57646984	57646984	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr19:57646984G>T	ENST00000269834.1	-	5	1106	c.721C>A	c.(721-723)Cat>Aat	p.H241N	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTTTCTGATGTTGAAAGAGA	0.378																																																0													128	126	127					19																	57646984		2203	4300	6503	SO:0001583	missense	114026			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.721C>A	chr19.hg19:g.57646984G>T	ENSP00000269834:p.His241Asn		Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	hg19	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347746	0.24426	.	.	ENSG00000141946	ENST00000269834	D	0.86865	-2.18	2.53	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94301	0.8169	H	0.95780	3.72	0.25361	N	0.988781	D	0.71674	0.998	D	0.91635	0.999	D	0.85217	0.1024	9	0.87932	D	0	.	7.1216	0.25448	0.1503:0.0:0.8497:0.0	.	241	Q96PE6	ZIM3_HUMAN	N	241	ENSP00000269834:H241N	ENSP00000269834:H241N	H	-	1	0	ZIM3	62338796	0.986000	0.35501	0.564000	0.28396	0.058000	0.15608	2.728000	0.47319	0.373000	0.24621	0.313000	0.20887	CAT		0.378	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			T	57646984	G	T	57646984	3	4	18	1	0	0	0	0	1	0	0	0	17690	1377	48	4	701	4	ZIM3	19	57646984	Missense_Mutation	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10	22015980	57646984	1481999	34	1249											
C22orf13	83606	hgsc.bcm.edu	37	22	24942883	24942883	+	Splice_Site	SNP	A	A	T			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chr22:24942883A>T	ENST00000407471.3	-	4	575	c.385T>A	c.(385-387)Tgc>Agc	p.C129S	GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000402766.1_Splice_Site_p.C129S|GUCD1_ENST00000435822.1_Splice_Site_p.C129S|GUCD1_ENST00000447813.2_Splice_Site_p.W129R|GUCD1_ENST00000404664.3_Splice_Site_p.C185S	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	129																	GGGGCTCACCATTTCTCCACC	0.557																																																0													98	98	98					22																	24942883		2203	4300	6503	SO:0001630	splice_region_variant	83606			AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 13"	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.386+1T>A	chr22.hg19:g.24942883A>T			B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	ENST00000407471.3	hg19	CCDS33621.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.96|16.96	3.266439|3.266439	0.59540|0.59540	.|.	.|.	ENSG00000138867|ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664;ENST00000402766|ENST00000447813	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.048451|.	0.85682|.	D|.	0.000000|.	T|T	0.55033|0.55033	0.1895|0.1895	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999999|0.999999	D;P;P;P;B|.	0.61697|.	0.99;0.917;0.695;0.611;0.07|.	P;B;B;P;B|.	0.61800|.	0.894;0.425;0.236;0.502;0.051|.	T|T	0.51702|0.51702	-0.8672|-0.8672	9|6	0.30078|0.06494	T|T	0.28|0.89	-25.3709|-25.3709	9.7612|9.7612	0.40532|0.40532	0.9234:0.0:0.0766:0.0|0.9234:0.0:0.0766:0.0	.|.	129;185;193;129;129|.	E9PGZ7;B5MCL7;B4DH83;B4DL90;Q96NT3|.	.;.;.;.;CV013_HUMAN|.	S|R	129;129;185;129|129	.|.	ENSP00000381297:C129S|ENSP00000387867:W129R	C|W	-|-	1|1	0|0	C22orf13|C22orf13	23272883|23272883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.659000|4.659000	0.61504|0.61504	2.212000|2.212000	0.71576|0.71576	0.533000|0.533000	0.62120|0.62120	TGC|TGG		0.557	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	NM_031444	Missense_Mutation	T	24942883	A	T	24942883	5	4	18	1	0	0	0	0	0	0	1	0	2137	231	8	5	349	5	C22orf13	22	24942883	Splice_Site	SNP	A	TCGA-2Z-A9JO-01A-11D-A42J-10		24942883	26361683	35	1250											
ACE2	59272	hgsc.bcm.edu	37	X	15596288	15596288	+	Silent	SNP	G	G	A			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chrX:15596288G>A	ENST00000252519.3	-	9	1323	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	ACE2_ENST00000427411.1_Silent_p.I407I			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	407					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AAAGTGACATGATTTCCCCAA	0.418																																																0													126	106	113					X																	15596288		2203	4300	6503	SO:0001819	synonymous_variant	59272			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1221C>T	chrX.hg19:g.15596288G>A			C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Silent	SNP	ENST00000252519.3	hg19	CCDS14169.1																																																																																				0.418	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			A	15596288	G	A	15596288	2	1	18	1	0	0	0	0	0	0	0	1	137	1280	45	2		2	ACE2	23	15596288	Silent	SNP	G	TCGA-2Z-A9JO-01A-11D-A42J-10		15596288	139674272	36	1251											
LANCL3	347404	hgsc.bcm.edu	37	X	37431495	37431495	+	Silent	SNP	C	C	T			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chrX:37431495C>T	ENST00000378619.3	+	1	591	c.372C>T	c.(370-372)ggC>ggT	p.G124G	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378621.3_Silent_p.G124G	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	124							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						TGCTCGGGGGCGCGGGCGTGT	0.731																																																0													2	3	2					X																	37431495		1288	2580	3868	SO:0001819	synonymous_variant	347404			AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.372C>T	chrX.hg19:g.37431495C>T			A6NHE3	Silent	SNP	ENST00000378619.3	hg19	CCDS55398.1																																																																																				0.731	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511		T	37431495	C	T	37431495	2	4	18	1	0	0	0	0	0	0	0	1	8624	755	27	1		1	LANCL3	23	37431495	Silent	SNP	C	TCGA-2Z-A9JO-01A-11D-A42J-10	21835207	37431495	117839065	37	1252											
FAM104B	90736	hgsc.bcm.edu	37	X	55172645	55172645	+	Missense_Mutation	SNP	C	C	G	rs1047042	byFrequency	TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chrX:55172645C>G	ENST00000358460.4	-	3	373	c.220G>C	c.(220-222)Gat>Cat	p.D74H	FAM104B_ENST00000489298.1_Missense_Mutation_p.D73H|FAM104B_ENST00000425133.2_Missense_Mutation_p.D75H|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000477847.2_Missense_Mutation_p.D71H|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000332132.4_Missense_Mutation_p.D75H			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	74				D -> V (in Ref. 1; BAG61768). {ECO:0000305}.						endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						AAGTTTGCATCGGGTTCAGTA	0.468													C|||	5	0.0013245	0.0023	0.0	3775	,	,		14416	0.0		0.0	False		,,,				2504	0.002															0													136	110	119					X																	55172645		2203	4300	6503	SO:0001583	missense	90736			BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.220G>C	chrX.hg19:g.55172645C>G	ENSP00000364101:p.Asp74His		A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	hg19	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	c	3.193	-0.165363	0.06461	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	1.59	-1.04	0.10068	.	0.505297	0.17523	U	0.171170	T	0.25044	0.0608	N	0.14661	0.345	0.09310	N	1	B;P;P	0.46859	0.002;0.774;0.885	B;P;B	0.46479	0.001;0.518;0.241	T	0.15065	-1.0450	10	0.56958	D	0.05	-1.547	4.2247	0.10575	0.0:0.4679:0.0:0.5321	.	75;74;75	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	H	74;75;75;71;73	ENSP00000364101:D74H;ENSP00000333394:D75H;ENSP00000397188:D75H;ENSP00000421161:D71H;ENSP00000423164:D73H	ENSP00000333394:D75H	D	-	1	0	FAM104B	55189370	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.019000	0.12546	-0.355000	0.08199	-0.556000	0.04195	GAT		0.468	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		G	55172645	C	G	55172645	3	3	18	1	0	0	0	0	1	0	0	0	5388	884	31	4	232	4	FAM104B	23	55172645	Missense_Mutation	SNP	C	TCGA-2Z-A9JO-01A-11D-A42J-10	17741150	55172645	100097915	38	1253											
AR	367	hgsc.bcm.edu	37	X	66765176	66765176	+	Missense_Mutation	SNP	A	A	T	rs62636527		TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chrX:66765176A>T	ENST00000374690.3	+	1	712	c.188A>T	c.(187-189)cAg>cTg	p.Q63L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q63L|AR_ENST00000504326.1_Missense_Mutation_p.Q63L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	63	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	cagcagcagcagcagcagcag	0.672									Androgen Insensitivity Syndrome																																							0													5	8	7					X																	66765176		1640	3236	4876	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.188A>T	chrX.hg19:g.66765176A>T	ENSP00000363822:p.Gln63Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.08	1.532203	0.27387	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.78246	-1.16;-1.16;-1.16	.	.	.	.	0.479323	0.15343	U	0.267412	T	0.62624	0.2443	N	0.19112	0.55	0.09310	N	0.999992	P;D;.	0.58268	0.755;0.982;.	B;P;.	0.48627	0.089;0.584;.	T	0.56408	-0.7984	8	0.17832	T	0.49	.	.	.	.	rs62636527	63;63;61	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	63	ENSP00000363822:Q63L;ENSP00000421155:Q63L;ENSP00000379359:Q63L	ENSP00000363822:Q63L	Q	+	2	0	AR	66681901	0.810000	0.29049	0.871000	0.34182	0.555000	0.35460	1.078000	0.30754	0.000000	0.14550	0.000000	0.15137	CAG		0.672	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765176	A	T	66765176	3	4	18	1	0	0	0	0	1	0	0	0	836	188	7	5	190	5	AR	23	66765176	Missense_Mutation	SNP	A	TCGA-2Z-A9JO-01A-11D-A42J-10	11592531	66765176	88505384	39	1254	12	2									
AR	367	hgsc.bcm.edu	37	X	66765179	66765179	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JO-01A-11D-A42J-10	TCGA-2Z-A9JO-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be2d72cb-f80c-4e4e-898b-bcb53f6fbee6	c3d84203-c64e-4591-bf15-d40efc7076fd	g.chrX:66765179A>T	ENST00000374690.3	+	1	715	c.191A>T	c.(190-192)cAg>cTg	p.Q64L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q64L|AR_ENST00000504326.1_Missense_Mutation_p.Q64L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	64	Gln-rich.|Modulating.|Poly-Gln.		Q -> R (in prostate cancer).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	cagcagcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																																							0													4	8	7					X																	66765179		1590	3143	4733	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.191A>T	chrX.hg19:g.66765179A>T	ENSP00000363822:p.Gln64Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.28	1.591655	0.28357	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.67865	-0.29;-0.29;-0.29	.	.	.	.	1.847110	0.03494	N	0.217131	T	0.56124	0.1964	N	0.19112	0.55	0.09310	N	0.999991	P;D;.	0.58268	0.755;0.982;.	B;P;.	0.48627	0.089;0.584;.	T	0.50381	-0.8835	8	0.38643	T	0.18	.	.	.	.	.	64;64;62	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	64	ENSP00000363822:Q64L;ENSP00000421155:Q64L;ENSP00000379359:Q64L	ENSP00000363822:Q64L	Q	+	2	0	AR	66681904	0.024000	0.19004	0.883000	0.34634	0.574000	0.36063	-0.145000	0.10265	0.000000	0.14550	0.000000	0.15137	CAG		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765179	A	T	66765179	3	4	18	1	0	0	0	0	1	0	0	0	836	188	7	5	193	5	AR	23	66765179	Missense_Mutation	SNP	A	TCGA-2Z-A9JO-01A-11D-A42J-10	3	66765179	88505381	40	1255	12	2									
PRDM16	63976	hgsc.bcm.edu	37	1	3334463	3334463	+	Silent	SNP	C	C	G			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr1:3334463C>G	ENST00000270722.5	+	11	2812	c.2763C>G	c.(2761-2763)tcC>tcG	p.S921S	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Silent_p.S921S|PRDM16_ENST00000378391.2_Silent_p.S921S|PRDM16_ENST00000442529.2_Silent_p.S920S|PRDM16_ENST00000511072.1_Silent_p.S922S|PRDM16_ENST00000514189.1_Silent_p.S921S|PRDM16_ENST00000441472.2_Silent_p.S920S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	921	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGGCAGCTCCCTGCAGCCCC	0.602			T	EVI1	"MDS, AML"																																		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													79	89	86					1																	3334463		2010	4175	6185	SO:0001819	synonymous_variant	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2763C>G	chr1.hg19:g.3334463C>G			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	hg19	CCDS41236.2																																																																																				0.602	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		G	3334463	C	G	3334463	2	3	19	1	0	0	0	0	0	0	0	1	12462	610	22	4		4	PRDM16	1	3334463	Silent	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10		3334463	245916158	1	1256											
ZMYM6	9204	hgsc.bcm.edu	37	1	35452999	35452999	+	Silent	SNP	G	G	A	rs61744849		TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr1:35452999G>A	ENST00000357182.4	-	16	3911	c.3684C>T	c.(3682-3684)acC>acT	p.T1228T	ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron|RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6NB_ENST00000373337.3_5'Flank|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1228					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CTTCGAAGTCGGTGAGATTAT	0.358																																																0													86	85	85					1																	35452999		1822	4084	5906	SO:0001819	synonymous_variant	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3684C>T	chr1.hg19:g.35452999G>A			B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	hg19	CCDS387.2																																																																																				0.358	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		A	35452999	G	A	35452999	2	1	19	1	0	0	0	0	0	0	0	1	17709	1103	39	1		1	ZMYM6	1	35452999	Silent	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10	32118536	35452999	213797622	2	1257											
FLAD1	80308	hgsc.bcm.edu	37	1	154956520	154956520	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr1:154956520T>G	ENST00000292180.3	+	1	672	c.350T>G	c.(349-351)aTt>aGt	p.I117S	FLAD1_ENST00000315144.10_Missense_Mutation_p.I20S|FLAD1_ENST00000368433.1_Missense_Mutation_p.I117S|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000368431.3_De_novo_Start_InFrame|FLAD1_ENST00000368432.1_Missense_Mutation_p.I20S	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	117	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCATCATCATTGTTGGAGAT	0.587																																																0													25	23	23					1																	154956520		2203	4300	6503	SO:0001583	missense	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.350T>G	chr1.hg19:g.154956520T>G	ENSP00000292180:p.Ile117Ser		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	hg19	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	T	32	5.175833	0.94807	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000292180	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.45	5.45	0.79879	Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	L	0.49126	1.545	0.80722	D	1	P	0.43287	0.802	P	0.52343	0.696	T	0.76528	-0.2926	10	0.62326	D	0.03	-10.5785	13.7506	0.62906	0.0:0.0:0.0:1.0	.	117	Q8NFF5	FAD1_HUMAN	S	117;20;20;117	ENSP00000357418:I117S;ENSP00000317296:I20S;ENSP00000357417:I20S;ENSP00000292180:I117S	ENSP00000292180:I117S	I	+	2	0	FLAD1	153223144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.610000	0.74178	2.065000	0.61736	0.454000	0.30748	ATT		0.587	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		G	154956520	T	G	154956520	3	3	19	1	0	0	0	0	1	0	0	0	5922	1493	52	5	352	5	FLAD1	1	154956520	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10	119503521	154956520	94294101	3	1258											
INSRR	3645	hgsc.bcm.edu	37	1	156823981	156823981	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr1:156823981T>C	ENST00000368195.3	-	2	596	c.200A>G	c.(199-201)gAc>gGc	p.D67G	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	67					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCGCGGAAGTCCTCCCCGGT	0.627																																																0													70	69	69					1																	156823981		2203	4300	6503	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.200A>G	chr1.hg19:g.156823981T>C	ENSP00000357178:p.Asp67Gly		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	hg19	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787541	0.70337	.	.	ENSG00000027644	ENST00000368195	T	0.79749	-1.3	5.06	5.06	0.68205	EGF receptor, L domain (1);	0.000000	0.50627	D	0.000108	T	0.77025	0.4070	.	.	.	0.41280	D	0.986901	P	0.48640	0.913	P	0.48901	0.594	T	0.80919	-0.1167	9	0.62326	D	0.03	.	12.7616	0.57367	0.0:0.0:0.0:1.0	.	67	P14616	INSRR_HUMAN	G	67	ENSP00000357178:D67G	ENSP00000357178:D67G	D	-	2	0	INSRR	155090605	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.428000	0.52792	1.918000	0.55548	0.455000	0.32223	GAC		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		C	156823981	T	C	156823981	3	2	19	1	0	0	0	0	1	0	0	0	7776	1667	58	3	3776	3	INSRR	1	156823981	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10	1867461	156823981	92426640	4	1259											
KIRREL	55243	hgsc.bcm.edu	37	1	158058227	158058227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr1:158058227delA	ENST00000359209.6	+	8	1094	c.1027delA	c.(1027-1029)aaafs	p.K344fs	KIRREL_ENST00000368172.1_Frame_Shift_Del_p.K142fs|KIRREL_ENST00000368173.3_Frame_Shift_Del_p.K344fs|KIRREL_ENST00000392272.2_Frame_Shift_Del_p.K241fs|KIRREL_ENST00000416935.2_Frame_Shift_Del_p.K244fs|KIRREL_ENST00000360089.4_Frame_Shift_Del_p.K180fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	344	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CACCTGGACCAAAAAGGACTC	0.463																																																0													101	100	100					1																	158058227		2203	4300	6503	SO:0001589	frameshift_variant	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1027delA	chr1.hg19:g.158058227delA	ENSP00000352138:p.Lys344fs		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Frame_Shift_Del	DEL	ENST00000359209.6	hg19	CCDS1172.2																																																																																				0.463	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		-	158058227	A	-	158058227	7	5	19	1	0	1	0	1	0	0	0	0	8326	131	5	0	1057	0	KIRREL	1	158058227	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JP-01A-11D-A42J-10	1234246	158058227	91192394	5	1260											
KIAA1804	84451	hgsc.bcm.edu	37	1	233518353	233518353	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr1:233518353G>T	ENST00000366624.3	+	10	3268	c.3007G>T	c.(3007-3009)Gac>Tac	p.D1003Y	MLK4_ENST00000366622.1_Missense_Mutation_p.D449Y	NM_032435.2	NP_115811.2																					ACTGGATGCTGACGTGGAAGG	0.522																																																0													109	92	98					1																	233518353		2203	4300	6503	SO:0001583	missense	0																														ENST00000366624.3:c.3007G>T	chr1.hg19:g.233518353G>T	ENSP00000355583:p.Asp1003Tyr			Missense_Mutation	SNP	ENST00000366624.3	hg19	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667893	0.67814	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.80214	-1.35;2.71	4.77	2.47	0.30058	.	0.256767	0.28901	N	0.013763	T	0.81621	0.4861	L	0.41492	1.28	0.09310	N	0.999995	D;D	0.89917	1.0;0.966	D;P	0.69479	0.964;0.603	T	0.70590	-0.4830	10	0.87932	D	0	.	6.1916	0.20528	0.1283:0.1738:0.6979:0.0	.	450;1003	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	Y	1003;449	ENSP00000355583:D1003Y;ENSP00000355581:D449Y	ENSP00000355581:D449Y	D	+	1	0	RP5-862P8.2	231584976	0.988000	0.35896	0.000000	0.03702	0.340000	0.28889	3.723000	0.54955	0.379000	0.24794	0.563000	0.77884	GAC		0.522	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			T	233518353	G	T	233518353	3	4	19	1	0	0	0	0	1	0	0	0	8261	1290	45	4	3045	4	KIAA1804	1	233518353	Missense_Mutation	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10	75460126	233518353	15732268	6	1261											
GLS	2744	hgsc.bcm.edu	37	2	191769861	191769861	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr2:191769861T>C	ENST00000320717.3	+	6	1205	c.947T>C	c.(946-948)cTa>cCa	p.L316P	GLS_ENST00000338435.4_Missense_Mutation_p.L316P	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	316					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	CCGAGTGGACTAAGATTCAAC	0.328																																																0													106	106	106					2																	191769861		2203	4300	6503	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.947T>C	chr2.hg19:g.191769861T>C	ENSP00000317379:p.Leu316Pro		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	hg19	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737804	0.69304	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.44083	0.93;0.93	5.74	5.74	0.90152	Beta-lactamase/transpeptidase-like (1);	0.000000	0.64402	D	0.000001	T	0.59905	0.2228	M	0.84511	2.7	0.80722	D	1	D;D	0.59767	0.978;0.986	P;P	0.52454	0.683;0.699	T	0.62932	-0.6749	10	0.32370	T	0.25	-11.2118	16.3785	0.83418	0.0:0.0:0.0:1.0	.	316;316	O94925;O94925-3	GLSK_HUMAN;.	P	316	ENSP00000317379:L316P;ENSP00000340689:L316P	ENSP00000317379:L316P	L	+	2	0	GLS	191478106	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.323000	0.78572	0.529000	0.55759	CTA		0.328	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			C	191769861	T	C	191769861	3	2	19	1	0	0	0	0	1	0	0	0	6465	1522	53	3	969	3	GLS	2	191769861	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10		191769861	51429512	7	1262											
DOCK10	55619	hgsc.bcm.edu	37	2	225688357	225688357	+	Missense_Mutation	SNP	C	C	T	rs375357151		TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr2:225688357C>T	ENST00000258390.7	-	28	3111	c.3044G>A	c.(3043-3045)cGg>cAg	p.R1015Q	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1009Q	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1015					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTCTGAGGCCGGGGAAGCTA	0.368																																																0								C	GLN/ARG	1,3805		0,1,1902	100	96	98		3044	5.9	0.7	2		98	0,8240		0,0,4120	no	missense	DOCK10	NM_014689.2	43	0,1,6022	TT,TC,CC		0.0,0.0263,0.0083	probably-damaging	1015/2187	225688357	1,12045	1903	4120	6023	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3044G>A	chr2.hg19:g.225688357C>T	ENSP00000258390:p.Arg1015Gln		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	hg19	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175160	0.94807	2.63E-4	0.0	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.03635	3.86;3.86	5.9	5.9	0.94986	.	0.050922	0.85682	D	0.000000	T	0.26011	0.0634	M	0.88775	2.98	0.43287	D	0.995263	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.01280	-1.1397	10	0.87932	D	0	.	20.2799	0.98512	0.0:1.0:0.0:0.0	.	1015;1009	Q96BY6;B3FL70	DOC10_HUMAN;.	Q	1009;1015	ENSP00000386694:R1009Q;ENSP00000258390:R1015Q	ENSP00000258390:R1015Q	R	-	2	0	DOCK10	225396601	1.000000	0.71417	0.705000	0.30386	0.991000	0.79684	6.501000	0.73691	2.800000	0.96347	0.643000	0.83706	CGG		0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			T	225688357	C	T	225688357	3	4	19	1	0	0	0	0	1	0	0	0	4687	652	23	1	3632	1	DOCK10	2	225688357	Missense_Mutation	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10	33918496	225688357	17511016	8	1263											
PSMD1	5707	hgsc.bcm.edu	37	2	232030606	232030607	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr2:232030606_232030607insA	ENST00000308696.6	+	23	2752_2753	c.2590_2591insA	c.(2590-2592)gaafs	p.E864fs	PSMD1_ENST00000409643.1_Frame_Shift_Ins_p.E833fs|PSMD1_ENST00000373635.4_Frame_Shift_Ins_p.E833fs	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	864					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 protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GAAAAAGGAGGAAAAAGAGAAG	0.406																																																0																																										SO:0001589	frameshift_variant	5707			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2595dupA	chr2.hg19:g.232030611_232030611dupA	ENSP00000309474:p.Glu864fs		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Frame_Shift_Ins	INS	ENST00000308696.6	hg19	CCDS2482.1																																																																																				0.406	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			A	232030607	-	A	232030606	7	5	19	1	0	1	1	0	0	0	0	0	12697	1175	41	0	2680	0	PSMD1	2	232030606	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JP-01A-11D-A42J-10	6342249	232030606	11168767	9	1264											
UGT1A7	54577	hgsc.bcm.edu	37	2	234590634	234590634	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr2:234590634delG	ENST00000373426.3	+	1	51	c.51delG	c.(49-51)ctgfs	p.L18fs	UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	18					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TGTGTCTACTGCTGACCTGTG	0.557																																																0													133	125	127					2																	234590634		2203	4300	6503	SO:0001589	frameshift_variant	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.51delG	chr2.hg19:g.234590634delG	ENSP00000362525:p.Leu18fs		B8K293|O00473	Frame_Shift_Del	DEL	ENST00000373426.3	hg19	CCDS2506.1																																																																																				0.557	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		-	234590634	G	-	234590634	7	5	19	1	0	1	0	1	0	0	0	0	16955	1306	46	0	53	0	UGT1A7	2	234590634	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JP-01A-11D-A42J-10	2560028	234590634	8608739	10	1265											
RAB17	64284	hgsc.bcm.edu	37	2	238494751	238494751	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr2:238494751T>A	ENST00000264601.3	-	2	676	c.47A>T	c.(46-48)cAg>cTg	p.Q16L	RAB17_ENST00000409822.1_Intron|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000416106.1_5'UTR|RAB17_ENST00000538644.1_5'UTR	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	16					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		CACACGGGGCTGGCTGGGGGC	0.587																																					Colon(56;987 1029 6466 13943 27336)											0													47	51	49					2																	238494751		2203	4300	6503	SO:0001583	missense	64284			AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"RAB, member RAS oncogene"	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.47A>T	chr2.hg19:g.238494751T>A	ENSP00000264601:p.Gln16Leu		Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP	ENST00000264601.3	hg19	CCDS2520.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811895	0.50527	.	.	ENSG00000124839	ENST00000264601;ENST00000411462	T;T	0.79940	-1.32;-1.32	4.47	0.593	0.17478	.	0.379404	0.19708	N	0.107863	T	0.55816	0.1944	N	0.11000	0.08	0.80722	D	1	P	0.38922	0.651	B	0.32677	0.15	T	0.44636	-0.9315	10	0.44086	T	0.13	-11.2708	5.8348	0.18601	0.0:0.0935:0.347:0.5595	.	16	Q9H0T7	RAB17_HUMAN	L	16	ENSP00000264601:Q16L;ENSP00000400240:Q16L	ENSP00000264601:Q16L	Q	-	2	0	RAB17	238159490	1.000000	0.71417	0.067000	0.19924	0.045000	0.14185	2.158000	0.42329	-0.134000	0.11516	0.482000	0.46254	CAG		0.587	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2			A	238494751	T	A	238494751	3	1	19	1	0	0	0	0	1	0	0	0	12908	1580	55	5	611	5	RAB17	2	238494751	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10	3904117	238494751	4704622	11	1266											
CACNA1D	776	hgsc.bcm.edu	37	3	53845336	53845336	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr3:53845336T>C	ENST00000350061.5	+	48	6900	c.6389T>C	c.(6388-6390)cTa>cCa	p.L2130P	CACNA1D_ENST00000288139.4_Missense_Mutation_p.L2150P|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L2106P	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2130					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GACTATGAGCTACAGGACTTT	0.602																																																0													68	63	65					3																	53845336		2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6389T>C	chr3.hg19:g.53845336T>C	ENSP00000288133:p.Leu2130Pro		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	hg19	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.384600	0.61845	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.96265	-3.93;-3.96;-3.95;-3.95	5.56	4.37	0.52481	.	0.786356	0.11452	N	0.562709	D	0.97455	0.9167	M	0.73962	2.25	0.80722	D	1	P;D;D;D	0.65815	0.836;0.994;0.966;0.995	P;P;P;D	0.63957	0.572;0.878;0.642;0.92	D	0.94470	0.7684	10	0.33940	T	0.23	.	12.0173	0.53321	0.1296:0.0:0.0:0.8703	.	2106;1823;2130;2150	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	P	2130;2150;2106;1823	ENSP00000288133:L2130P;ENSP00000288139:L2150P;ENSP00000409174:L2106P;ENSP00000418014:L1823P	ENSP00000288139:L2150P	L	+	2	0	CACNA1D	53820376	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.466000	0.80914	1.010000	0.39314	0.533000	0.62120	CTA		0.602	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		C	53845336	T	C	53845336	3	2	19	1	0	0	0	0	1	0	0	0	2543	1522	53	3	6751	3	CACNA1D	3	53845336	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10		53845336	144177094	12	1267											
SHQ1	55164	hgsc.bcm.edu	37	3	72842103	72842103	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr3:72842103T>C	ENST00000325599.8	-	10	1284	c.1145A>G	c.(1144-1146)tAc>tGc	p.Y382C	SHQ1_ENST00000463369.1_Missense_Mutation_p.Y354C|SHQ1_ENST00000468371.1_5'UTR	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	382					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GTCTGAGATGTAGAGATCATT	0.333																																																0													85	83	83					3																	72842103		2203	4299	6502	SO:0001583	missense	55164			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"SHQ1 homolog (S. cerevisiae)"			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.1145A>G	chr3.hg19:g.72842103T>C	ENSP00000315182:p.Tyr382Cys		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	hg19	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.911519	0.72983	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.42900	0.99;0.96	5.85	5.85	0.93711	SHQ1 protein (1);	0.129663	0.53938	D	0.000048	T	0.67618	0.2912	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.73603	-0.3930	10	0.87932	D	0	-9.0575	11.9499	0.52948	0.1373:0.0:0.0:0.8627	.	382	Q6PI26	SHQ1_HUMAN	C	382;354	ENSP00000315182:Y382C;ENSP00000417452:Y354C	ENSP00000315182:Y382C	Y	-	2	0	SHQ1	72924793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.194000	0.72082	2.237000	0.73441	0.528000	0.53228	TAC		0.333	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		C	72842103	T	C	72842103	3	2	19	1	0	0	0	0	1	0	0	0	14298	1638	57	3	596	3	SHQ1	3	72842103	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10	18996767	72842103	125180327	13	1268											
PIK3CB	5291	hgsc.bcm.edu	37	3	138478176	138478176	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr3:138478176T>C	ENST00000477593.1	-	2	83	c.10A>G	c.(10-12)Agt>Ggt	p.S4G	PIK3CB_ENST00000289153.2_Missense_Mutation_p.S4G			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	4					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATTATGAAACTGAAGCACATT	0.423																																																0													82	79	80					3																	138478176		2203	4300	6503	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.10A>G	chr3.hg19:g.138478176T>C	ENSP00000418143:p.Ser4Gly		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	hg19	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.411956	0.25465	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451;ENST00000465581	T;T;T;T	0.72725	-0.39;-0.39;-0.67;-0.68	5.84	0.546	0.17196	.	0.811304	0.11165	N	0.592607	T	0.41604	0.1166	N	0.08118	0	0.18873	N	0.999989	B	0.15141	0.012	B	0.12156	0.007	T	0.21109	-1.0255	10	0.11794	T	0.64	0.1673	2.9379	0.05820	0.2173:0.0698:0.3812:0.3317	.	4	P42338	PK3CB_HUMAN	G	4	ENSP00000418143:S4G;ENSP00000289153:S4G;ENSP00000419857:S4G;ENSP00000420399:S4G	ENSP00000289153:S4G	S	-	1	0	PIK3CB	139960866	0.002000	0.14202	0.079000	0.20413	0.996000	0.88848	-0.054000	0.11826	-0.128000	0.11641	0.533000	0.62120	AGT		0.423	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			C	138478176	T	C	138478176	3	2	19	1	0	0	0	0	1	0	0	0	11916	1580	55	3	3288	3	PIK3CB	3	138478176	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10	65636073	138478176	59544254	14	1269											
EIF4G1	1981	hgsc.bcm.edu	37	3	184052524	184052524	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr3:184052524G>A	ENST00000346169.2	+	33	4899	c.4628G>A	c.(4627-4629)cGg>cAg	p.R1543Q	FAM131A_ENST00000418281.1_5'Flank|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1550Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1550Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1456Q|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1544Q|FAM131A_ENST00000340957.5_5'Flank|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1380Q|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_5'Flank|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1379Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1503Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1543Q|FAM131A_ENST00000450976.1_5'Flank|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R1347Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1457Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1550Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R1348Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1504Q	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1543	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACCTGCTGCGGATGTTCTTT	0.597																																																0													103	87	92					3																	184052524		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4628G>A	chr3.hg19:g.184052524G>A	ENSP00000316879:p.Arg1543Gln		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605908	0.28623	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	4.24	0.0401	0.14207	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.139826	0.48767	D	0.000171	T	0.72399	0.3455	L	0.42581	1.335	0.52099	D	0.999947	D;D;D	0.55605	0.972;0.972;0.972	P;B;B	0.45639	0.488;0.384;0.384	T	0.66118	-0.6003	10	0.27785	T	0.31	0.0016	10.3514	0.43939	0.0:0.4071:0.453:0.1399	.	1550;1544;1543	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	Q	1543;1503;1456;1550;1379;1550;1457;1544;1543;1550;1504;1380;1348;1347	ENSP00000316879:R1543Q;ENSP00000391935:R1503Q;ENSP00000376320:R1456Q;ENSP00000371767:R1550Q;ENSP00000317600:R1379Q;ENSP00000338020:R1550Q;ENSP00000407682:R1457Q;ENSP00000343450:R1544Q;ENSP00000323737:R1543Q;ENSP00000416255:R1550Q;ENSP00000395974:R1504Q;ENSP00000399858:R1380Q;ENSP00000411826:R1348Q;ENSP00000404754:R1347Q	ENSP00000323737:R1543Q	R	+	2	0	EIF4G1	185535218	1.000000	0.71417	0.541000	0.28102	0.051000	0.14879	7.719000	0.84751	-0.196000	0.10366	0.555000	0.69702	CGG		0.597	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		A	184052524	G	A	184052524	3	1	19	1	0	0	0	0	1	0	0	0	5038	1116	39	1	4750	1	EIF4G1	3	184052524	Missense_Mutation	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10	45574348	184052524	13969906	15	1270											
ARAP2	116984	hgsc.bcm.edu	37	4	36179487	36179487	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr4:36179487A>C	ENST00000303965.4	-	9	2308	c.1819T>G	c.(1819-1821)Tta>Gta	p.L607V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	607	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTCCACTTAACACAGTAAAA	0.368																																																0													150	148	149					4																	36179487		2203	4300	6503	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1819T>G	chr4.hg19:g.36179487A>C	ENSP00000302895:p.Leu607Val		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	hg19	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.605214	0.46423	.	.	ENSG00000047365	ENST00000303965	D	0.91686	-2.89	5.34	4.12	0.48240	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.51477	D	0.000090	D	0.91707	0.7378	L	0.37800	1.135	0.32339	N	0.560068	P;D	0.89917	0.699;1.0	P;D	0.87578	0.759;0.998	D	0.89237	0.3581	10	0.34782	T	0.22	.	4.7854	0.13222	0.7056:0.0:0.1545:0.1399	.	537;607	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	V	607	ENSP00000302895:L607V	ENSP00000302895:L607V	L	-	1	2	ARAP2	35855882	0.971000	0.33674	0.999000	0.59377	0.995000	0.86356	1.567000	0.36407	0.838000	0.34948	0.402000	0.26972	TTA		0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		C	36179487	A	C	36179487	3	2	19	1	0	0	0	0	1	0	0	0	839	40	2	5	3395	5	ARAP2	4	36179487	Missense_Mutation	SNP	A	TCGA-2Z-A9JP-01A-11D-A42J-10		36179487	154974789	16	1271											
SLC4A9	83697	hgsc.bcm.edu	37	5	139747021	139747021	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr5:139747021G>A	ENST00000230993.6	+	15	2137	c.2102G>A	c.(2101-2103)cGt>cAt	p.R701H	SLC4A9_ENST00000507527.1_Missense_Mutation_p.R701H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R677H|SLC4A9_ENST00000506545.1_Missense_Mutation_p.R614H|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R663H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	701	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCTGGGCGTGGCTGGCTG	0.587																																																0													27	30	29					5																	139747021		2069	4197	6266	SO:0001583	missense	83697			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2102G>A	chr5.hg19:g.139747021G>A	ENSP00000230993:p.Arg701His		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	hg19	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813602	0.90790	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.21	4.34	0.51931	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.95095	0.8411	M	0.94142	3.5	0.58432	D	0.999999	P;D;D;D	0.89917	0.681;1.0;1.0;1.0	B;D;D;D	0.91635	0.168;0.999;0.999;0.999	D	0.96394	0.9291	10	0.87932	D	0	.	14.6165	0.68552	0.0705:0.0:0.9295:0.0	.	614;701;663;677	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	H	701;677;663;614;701	ENSP00000230993:R701H;ENSP00000424424:R677H;ENSP00000410056:R663H;ENSP00000422855:R614H;ENSP00000427661:R701H	ENSP00000230993:R701H	R	+	2	0	SLC4A9	139727205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	1.569000	0.49696	0.655000	0.94253	CGT		0.587	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		A	139747021	G	A	139747021	3	1	19	1	0	0	0	0	1	0	0	0	14666	1145	40	1	2088	1	SLC4A9	5	139747021	Missense_Mutation	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10		139747021	41168239	17	1272											
TINAG	27283	hgsc.bcm.edu	37	6	54214540	54214540	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr6:54214540T>C	ENST00000259782.4	+	7	1022	c.926T>C	c.(925-927)cTt>cCt	p.L309P		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	309					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGCTACCCACTTTTCAAAGAC	0.423																																																0													145	135	138					6																	54214540		2203	4300	6503	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.926T>C	chr6.hg19:g.54214540T>C	ENSP00000259782:p.Leu309Pro		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	hg19	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748832	0.69533	.	.	ENSG00000137251	ENST00000339741;ENST00000259782	D	0.87179	-2.22	5.87	5.87	0.94306	Peptidase C1A, papain C-terminal (2);	0.129015	0.40064	N	0.001200	D	0.88366	0.6417	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90038	0.4140	10	0.66056	D	0.02	.	12.6692	0.56858	0.0:0.0:0.0:1.0	.	309	Q9UJW2	TINAG_HUMAN	P	168;309	ENSP00000259782:L309P	ENSP00000259782:L309P	L	+	2	0	TINAG	54322499	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.982000	0.56909	2.247000	0.74100	0.482000	0.46254	CTT		0.423	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		C	54214540	T	C	54214540	3	2	19	1	0	0	0	0	1	0	0	0	15926	1609	56	3	952	3	TINAG	6	54214540	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10		54214540	116900527	18	1273											
DST	667	hgsc.bcm.edu	37	6	56494230	56494230	+	Silent	SNP	A	A	G			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr6:56494230A>G	ENST00000361203.3	-	28	3667	c.3660T>C	c.(3658-3660)tcT>tcC	p.S1220S	DST_ENST00000370769.4_Silent_p.S1220S|DST_ENST00000421834.2_Silent_p.S1220S|DST_ENST00000446842.2_Silent_p.S894S|DST_ENST00000518935.1_Silent_p.S894S|DST_ENST00000370788.2_Silent_p.S1220S|DST_ENST00000370765.6_Silent_p.S894S|DST_ENST00000244364.6_Silent_p.S894S|DST_ENST00000312431.6_Silent_p.S1220S|DST_ENST00000370754.5_Silent_p.S1398S			Q03001	DYST_HUMAN	dystonin	1220					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATCTACTTCAGATCTCCATT	0.308																																																0													92	88	89					6																	56494230		2203	4300	6503	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3660T>C	chr6.hg19:g.56494230A>G			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	hg19																																																																																					0.308	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56494230	A	G	56494230	2	3	19	1	0	0	0	0	0	0	0	1	4785	175	7	3		3	DST	6	56494230	Silent	SNP	A	TCGA-2Z-A9JP-01A-11D-A42J-10	2279690	56494230	114620837	19	1274											
LAMA4	3910	hgsc.bcm.edu	37	6	112430643	112430644	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr6:112430643_112430644GG>AT	ENST00000230538.7	-	39	5865_5866	c.5468_5469CC>AT	c.(5467-5469)gCC>gAT	p.A1823D	LAMA4_ENST00000389463.4_Missense_Mutation_p.A1816D|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1816D|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1816D	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1823					blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGTCATGTCAGGCTGCTGGACA	0.52																																																0																																										SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.5468_5469delinsAT	chr6.hg19:g.112430643_112430644delinsAT	ENSP00000230538:p.Ala1823Asp		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent|Missense_Mutation	SNP	ENST00000230538.7	hg19	CCDS43491.1																																																																																				0.52	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		AT	112430644	GG	AT	112430643	3	1	19	1	0	0	0	0	1	0	0	0	8610	987	35	2	6	2	LAMA4	6	112430643	Missense_Mutation	DNP	GG	TCGA-2Z-A9JP-01A-11D-A42J-10	55936413	112430643	58684424	20	1275											
RAPGEF5	9771	hgsc.bcm.edu	37	7	22200190	22200190	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr7:22200190A>G	ENST00000401957.2	-	4	810	c.563T>C	c.(562-564)aTa>aCa	p.I188T	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.I338T			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	188	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TTTTTCAAGTATTGGATATTC	0.323																																																0													45	42	43					7																	22200190		1788	3990	5778	SO:0001583	missense	9771			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.563T>C	chr7.hg19:g.22200190A>G	ENSP00000384044:p.Ile188Thr		A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	hg19		.	.	.	.	.	.	.	.	.	.	A	10.32	1.317657	0.23994	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957;ENST00000458533	T;T;T	0.28666	1.6;1.6;1.6	6.03	6.03	0.97812	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.495212	0.24470	N	0.038242	T	0.23210	0.0561	N	0.19112	0.55	0.29386	N	0.862978	B;B	0.09022	0.0;0.002	B;B	0.08055	0.003;0.002	T	0.08269	-1.0730	10	0.32370	T	0.25	.	16.5594	0.84535	1.0:0.0:0.0:0.0	.	188;338	Q92565;A8MQ07	RPGF5_HUMAN;.	T	338;188;188;188;76	ENSP00000343656:I338T;ENSP00000384044:I188T;ENSP00000415664:I76T	ENSP00000258735:I188T	I	-	2	0	RAPGEF5	22166715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.076000	0.64413	2.313000	0.78055	0.519000	0.50382	ATA		0.323	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		G	22200190	A	G	22200190	3	3	19	1	0	0	0	0	1	0	0	0	13053	449	16	3	1231	3	RAPGEF5	7	22200190	Missense_Mutation	SNP	A	TCGA-2Z-A9JP-01A-11D-A42J-10		22200190	136938473	21	1276											
VPS41	27072	hgsc.bcm.edu	37	7	38902201	38902201	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr7:38902201A>T	ENST00000310301.4	-	4	244	c.190T>A	c.(190-192)Tat>Aat	p.Y64N	VPS41_ENST00000395969.2_Missense_Mutation_p.Y64N	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	64					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACCTTGCCATAATGTGTGCCC	0.308																																																0													83	84	83					7																	38902201		2203	4300	6503	SO:0001583	missense	27072			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.190T>A	chr7.hg19:g.38902201A>T	ENSP00000309457:p.Tyr64Asn		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	hg19	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023444	0.35701	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000414632;ENST00000418457;ENST00000457055	T;T;T;T;T	0.51817	2.5;2.48;3.47;0.69;2.45	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.168014	0.53938	D	0.000041	T	0.15132	0.0365	N	0.01424	-0.875	0.43994	D	0.99669	P;P;P	0.37864	0.61;0.61;0.61	B;B;B	0.24541	0.054;0.054;0.054	T	0.28267	-1.0049	10	0.09843	T	0.71	-19.4277	10.9878	0.47532	0.8608:0.0:0.0:0.1392	.	64;64;64	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	N	64;64;51;14;14	ENSP00000309457:Y64N;ENSP00000379297:Y64N;ENSP00000411919:Y51N;ENSP00000407835:Y14N;ENSP00000398584:Y14N	ENSP00000265745:Y64N	Y	-	1	0	VPS41	38868726	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.754000	0.74909	2.133000	0.65898	0.477000	0.44152	TAT		0.308	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			T	38902201	A	T	38902201	3	4	19	1	0	0	0	0	1	0	0	0	17215	362	13	5	2478	5	VPS41	7	38902201	Missense_Mutation	SNP	A	TCGA-2Z-A9JP-01A-11D-A42J-10	16702011	38902201	120236462	22	1277											
PHF20L1	51105	hgsc.bcm.edu	37	8	133823301	133823301	+	Silent	SNP	A	A	G			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr8:133823301A>G	ENST00000395386.2	+	9	1157	c.858A>G	c.(856-858)gcA>gcG	p.A286A	PHF20L1_ENST00000395390.2_Silent_p.A261A|PHF20L1_ENST00000395379.1_Silent_p.A286A|PHF20L1_ENST00000395376.1_Silent_p.A291A|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Silent_p.A260A	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	286							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTTTGTTGGCATCCAAAGCTG	0.338																																																0													142	152	148					8																	133823301		2203	4300	6503	SO:0001819	synonymous_variant	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.858A>G	chr8.hg19:g.133823301A>G			A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	hg19	CCDS6367.2																																																																																				0.338	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		G	133823301	A	G	133823301	2	3	19	1	0	0	0	0	0	0	0	1	11834	204	8	3		3	PHF20L1	8	133823301	Silent	SNP	A	TCGA-2Z-A9JP-01A-11D-A42J-10		133823301	12540721	23	1278											
RECQL4	9684	hgsc.bcm.edu	37	8	145741535	145741535	+	5'Flank	SNP	C	C	T			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr8:145741535C>T	ENST00000292524.1	+	0	0				RECQL4_ENST00000428558.2_Missense_Mutation_p.S323N|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACTGGAGGGGCTGAGTCCGTG	0.647																																																0													74	92	86					8																	145741535		2086	4208	6294	SO:0001631	upstream_gene_variant	9401			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		chr8.hg19:g.145741535C>T	Exception_encountered		A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	hg19	CCDS6432.1																																																																																				0.647	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		T	145741535	C	T	145741535	1	4	19	0	1	0	0	0	0	0	0	0	13208	797	28	2		2	RECQL4	8	145741535	5'Flank	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10	11918234	145741535	622487	24	1279											
TSTD2	158427	hgsc.bcm.edu	37	9	100389788	100389788	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr9:100389788T>G	ENST00000341170.4	-	2	439	c.57A>C	c.(55-57)agA>agC	p.R19S	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	19										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GGTCAGAAAATCTTAAAATGC	0.383																																																0													131	134	133					9																	100389788		2203	4300	6503	SO:0001583	missense	158427			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.57A>C	chr9.hg19:g.100389788T>G	ENSP00000342499:p.Arg19Ser		A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	hg19	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893135	0.52121	.	.	ENSG00000136925	ENST00000341170	T	0.32753	1.44	5.38	0.147	0.14838	.	0.161832	0.42420	D	0.000719	T	0.23846	0.0577	L	0.54323	1.7	0.80722	D	1	B	0.24483	0.104	B	0.22386	0.039	T	0.05818	-1.0862	10	0.72032	D	0.01	-3.0007	5.2921	0.15733	0.0:0.2549:0.1411:0.604	.	19	Q5T7W7	TSTD2_HUMAN	S	19	ENSP00000342499:R19S	ENSP00000342499:R19S	R	-	3	2	TSTD2	99429609	1.000000	0.71417	0.722000	0.30670	0.975000	0.68041	1.016000	0.29976	0.064000	0.16427	0.533000	0.62120	AGA		0.383	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		G	100389788	T	G	100389788	3	3	19	1	0	0	0	0	1	0	0	0	16680	1432	50	5	1529	5	TSTD2	9	100389788	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10		100389788	40823643	25	1280											
GATA3	2625	hgsc.bcm.edu	37	10	8111467	8111467	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr10:8111467C>A	ENST00000346208.3	+	5	1408	c.953C>A	c.(952-954)gCg>gAg	p.A318E	GATA3_ENST00000379328.3_Missense_Mutation_p.A319E|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	318					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACGTCCTGTGCGAACTGTCAG	0.502			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													156	117	130					10																	8111467		2203	4300	6503	SO:0001583	missense	2625			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.953C>A	chr10.hg19:g.8111467C>A	ENSP00000341619:p.Ala318Glu		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	hg19	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264336	0.95399	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99436	-5.9;-5.9	5.21	5.21	0.72293	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (4);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.98364	1.0550	10	0.87932	D	0	-22.289	19.1275	0.93391	0.0:1.0:0.0:0.0	.	318;319	P23771;P23771-2	GATA3_HUMAN;.	E	319;318	ENSP00000368632:A319E;ENSP00000341619:A318E	ENSP00000341619:A318E	A	+	2	0	GATA3	8151473	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	7.776000	0.85560	2.590000	0.87494	0.561000	0.74099	GCG		0.502	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		A	8111467	C	A	8111467	3	1	19	1	0	0	0	0	1	0	0	0	6257	768	27	4	970	4	GATA3	10	8111467	Missense_Mutation	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10		8111467	127423280	26	1281											
ZNF438	220929	hgsc.bcm.edu	37	10	31138190	31138190	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr10:31138190T>C	ENST00000361310.3	-	6	1473	c.1144A>G	c.(1144-1146)Aga>Gga	p.R382G	ZNF438_ENST00000436087.2_Missense_Mutation_p.R382G|ZNF438_ENST00000413025.1_Missense_Mutation_p.R382G|ZNF438_ENST00000452305.1_Missense_Mutation_p.R372G|ZNF438_ENST00000444692.2_Missense_Mutation_p.R372G|ZNF438_ENST00000442986.1_Missense_Mutation_p.R382G|ZNF438_ENST00000538351.2_Missense_Mutation_p.R333G|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000331737.6_Missense_Mutation_p.R372G			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	382					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CTTCCTTTTCTCTTTGCTGCT	0.398																																																0													112	107	109					10																	31138190		2203	4300	6503	SO:0001583	missense	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1144A>G	chr10.hg19:g.31138190T>C	ENSP00000354663:p.Arg382Gly		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	hg19	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.327742	0.60743	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896	T;T;T;T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64;2.64;2.64;2.64	5.73	5.73	0.89815	.	0.090652	0.85682	D	0.000000	T	0.34629	0.0904	M	0.73598	2.24	0.49051	D	0.999748	D;D	0.63046	0.986;0.992	P;P	0.59357	0.722;0.856	T	0.09684	-1.0663	10	0.87932	D	0	-28.0386	15.1883	0.73023	0.0:0.0:0.0:1.0	.	382;372	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	G	372;382;382;382;382;372;372;333;101	ENSP00000333571:R372G;ENSP00000354663:R382G;ENSP00000406934:R382G;ENSP00000412363:R382G;ENSP00000387546:R382G;ENSP00000413060:R372G;ENSP00000410898:R372G;ENSP00000445461:R333G	ENSP00000333571:R372G	R	-	1	2	ZNF438	31178196	1.000000	0.71417	0.642000	0.29436	0.135000	0.20990	7.162000	0.77515	2.186000	0.69663	0.528000	0.53228	AGA		0.398	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		C	31138190	T	C	31138190	3	2	19	1	0	0	0	0	1	0	0	0	17915	1559	54	3	1350	3	ZNF438	10	31138190	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10	23026723	31138190	104396557	27	1282											
PCDH15	65217	hgsc.bcm.edu	37	10	56423964	56423964	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr10:56423964A>T	ENST00000320301.6	-	2	453	c.59T>A	c.(58-60)cTc>cAc	p.L20H	PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000373957.3_Missense_Mutation_p.L20H|PCDH15_ENST00000437009.1_Missense_Mutation_p.L20H|PCDH15_ENST00000395433.1_Missense_Mutation_p.L20H|PCDH15_ENST00000395432.2_Missense_Mutation_p.L20H|PCDH15_ENST00000395446.1_Missense_Mutation_p.L20H|PCDH15_ENST00000395440.1_Missense_Mutation_p.L20H|PCDH15_ENST00000395430.1_Missense_Mutation_p.L20H|PCDH15_ENST00000373965.2_Missense_Mutation_p.L20H|PCDH15_ENST00000395438.1_Missense_Mutation_p.L20H|PCDH15_ENST00000373955.1_Missense_Mutation_p.L20H|PCDH15_ENST00000395442.1_Missense_Mutation_p.L20H|PCDH15_ENST00000361849.3_Missense_Mutation_p.L20H|PCDH15_ENST00000395445.1_Missense_Mutation_p.L20H|PCDH15_ENST00000414778.1_Missense_Mutation_p.L20H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	20					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTTCAAAGAGAGAGCCCAG	0.383										HNSCC(58;0.16)																																						0													80	73	75					10																	56423964		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.59T>A	chr10.hg19:g.56423964A>T	ENSP00000322604:p.Leu20His		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.314590	0.40996	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68765	0.34;0.34;0.26;0.27;0.25;0.46;0.36;0.19;0.23;-0.35;-0.35;0.24;0.24;0.26;0.39;0.55	5.8	5.8	0.92144	.	.	.	.	.	T	0.72407	0.3456	L	0.40543	1.245	0.19300	N	0.999976	D;D;D;D;D;D;D;D;D;D;D;P;P;D;D	0.67145	0.986;0.986;0.986;0.986;0.992;0.986;0.986;0.981;0.996;0.996;0.996;0.81;0.931;0.975;0.986	P;P;P;P;P;P;P;P;P;P;P;B;P;P;P	0.58873	0.789;0.832;0.832;0.832;0.765;0.832;0.789;0.695;0.847;0.784;0.789;0.378;0.678;0.789;0.832	T	0.66555	-0.5894	9	0.87932	D	0	.	13.6644	0.62387	1.0:0.0:0.0:0.0	.	20;20;20;20;20;20;20;20;20;20;20;20;20;20;20	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	20	ENSP00000363076:L20H;ENSP00000410304:L20H;ENSP00000378826:L20H;ENSP00000378832:L20H;ENSP00000378833:L20H;ENSP00000378829:L20H;ENSP00000378827:L20H;ENSP00000378820:L20H;ENSP00000354950:L20H;ENSP00000378821:L20H;ENSP00000363068:L20H;ENSP00000322604:L20H;ENSP00000378818:L20H;ENSP00000412628:L20H;ENSP00000363066:L20H;ENSP00000394465:L20H	ENSP00000322604:L20H	L	-	2	0	PCDH15	56093970	0.993000	0.37304	0.031000	0.17742	0.006000	0.05464	5.603000	0.67619	2.216000	0.71823	0.402000	0.26972	CTC		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		T	56423964	A	T	56423964	3	4	19	1	0	0	0	0	1	0	0	0	11513	304	11	5	7599	5	PCDH15	10	56423964	Missense_Mutation	SNP	A	TCGA-2Z-A9JP-01A-11D-A42J-10	25285774	56423964	79110783	28	1283											
MKI67	4288	hgsc.bcm.edu	37	10	129910660	129910660	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr10:129910660A>G	ENST00000368654.3	-	9	2081	c.1706T>C	c.(1705-1707)gTg>gCg	p.V569A	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.V209A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	569					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTCACTTCCACATGGATTTC	0.458																																																0													133	143	140					10																	129910660		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1706T>C	chr10.hg19:g.129910660A>G	ENSP00000357643:p.Val569Ala		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426189	0.25726	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01446	4.94;4.88	4.05	2.73	0.32206	.	0.976288	0.08358	N	0.958088	T	0.01222	0.0040	N	0.19112	0.55	0.09310	N	1	B;B;B	0.28636	0.218;0.218;0.139	B;B;B	0.24848	0.056;0.056;0.025	T	0.42310	-0.9459	10	0.02654	T	1	.	6.0887	0.19983	0.866:0.0:0.134:0.0	.	569;209;569	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	569;209;569;144	ENSP00000357643:V569A;ENSP00000357642:V209A	ENSP00000357641:V144A	V	-	2	0	MKI67	129800650	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	-0.223000	0.09177	0.593000	0.29745	0.460000	0.39030	GTG		0.458	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		G	129910660	A	G	129910660	3	3	19	1	0	0	0	0	1	0	0	0	9600	159	6	3	8092	3	MKI67	10	129910660	Missense_Mutation	SNP	A	TCGA-2Z-A9JP-01A-11D-A42J-10	73486696	129910660	5624087	29	1284											
NLRP14	338323	hgsc.bcm.edu	37	11	7083573	7083573	+	Silent	SNP	C	C	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr11:7083573C>A	ENST00000299481.4	+	10	3160	c.2814C>A	c.(2812-2814)ggC>ggA	p.G938G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	938					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GATTGATGGGCTGTGTTCTCA	0.408																																																0													122	118	119					11																	7083573		2201	4296	6497	SO:0001819	synonymous_variant	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2814C>A	chr11.hg19:g.7083573C>A			Q7RTR6	Silent	SNP	ENST00000299481.4	hg19	CCDS7776.1																																																																																				0.408	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		A	7083573	C	A	7083573	2	1	19	1	0	0	0	0	0	0	0	1	10478	784	28	4		4	NLRP14	11	7083573	Silent	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10		7083573	127922943	30	1285											
CCDC88B	283234	hgsc.bcm.edu	37	11	64110796	64110797	+	Splice_Site	INS	-	-	GGCAT	rs561918725		TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr11:64110796_64110797insGGCAT	ENST00000356786.5	+	11	1252_1253	c.1208_1209insGGCAT	c.(1207-1212)gcggag>gcGGCATggag	p.E404fs	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	404						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGGCCCATGCGGTAAGGTAGC	0.639																																																0																																										SO:0001630	splice_region_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1209+1->GGCAT	chr11.hg19:g.64110796_64110797insGGCAT			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Frame_Shift_Ins	INS	ENST00000356786.5	hg19	CCDS8072.2																																																																																				0.639	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251	Frame_Shift_Ins	GGCAT	64110797	-	GGCAT	64110796	8	5	19	1	0	1	1	0	0	0	1	0	2866	782	27	0	1250	0	CCDC88B	11	64110796	Splice_Site	INS	-	TCGA-2Z-A9JP-01A-11D-A42J-10	57027223	64110796	70895720	31	1286											
NUMA1	10068	hgsc.bcm.edu	37	11	71716361	71716361	+	IGR	SNP	T	T	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr11:71716361T>C	ENST00000393703.4	+	0	1788				NUMA1_ENST00000358965.6_Missense_Mutation_p.D1902G|NUMA1_ENST00000351960.6_Missense_Mutation_p.D780G|NUMA1_ENST00000393695.3_Missense_Mutation_p.D1916G	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GCGGTTCCAGTCATCCAGCTG	0.592																																																0													103	87	92					11																	71716361		2200	4293	6493	SO:0001628	intergenic_variant	4926			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		chr11.hg19:g.71716361T>C			B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	hg19	CCDS8206.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.625967|4.625967	0.87560|0.87560	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	T;T;T|.	0.25579|.	1.79;2.22;2.22|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.56097|.	D|.	0.000032|.	T|T	0.53981|0.53981	0.1830|0.1830	L|L	0.29908|0.29908	0.895|0.895	0.47819|0.47819	D|D	0.999521|0.999521	D;D;D;D|.	0.89917|.	1.0;0.998;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.977;0.999;0.999|.	T|T	0.51076|0.51076	-0.8751|-0.8751	10|5	0.87932|.	D|.	0|.	.|.	14.2872|14.2872	0.66254|0.66254	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1922;1902;1916;780|.	Q4LE64;Q14980-2;Q14980;Q9BTE9|.	.;.;NUMA1_HUMAN;.|.	G|A	780;1902;1916;1465;889|765	ENSP00000260051:D780G;ENSP00000351851:D1902G;ENSP00000377298:D1916G|.	ENSP00000260051:D780G|.	D|T	-|-	2|1	0|0	NUMA1|NUMA1	71394009|71394009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.173000|6.173000	0.71937|0.71937	2.038000|2.038000	0.60285|0.60285	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.592	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		C	71716361	T	C	71716361	1	2	19	0	1	0	0	0	0	0	0	0	10752	1667	58	3		3	NUMA1	11	71716361	IGR	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10	7605565	71716361	63290155	32	1287											
MMP10	4319	hgsc.bcm.edu	37	11	102649966	102649966	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr11:102649966T>C	ENST00000279441.4	-	3	510	c.474A>G	c.(472-474)atA>atG	p.I158M		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	158					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	AAGAGATCATTATATCAGCCT	0.408																																																0													150	151	151					11																	102649966		2203	4299	6502	SO:0001583	missense	4319			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.474A>G	chr11.hg19:g.102649966T>C	ENSP00000279441:p.Ile158Met		B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	hg19	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	t	13.80	2.346268	0.41599	.	.	ENSG00000166670	ENST00000279441;ENST00000539681	T;T	0.36878	1.23;1.23	4.38	-1.36	0.09085	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.66906	0.2837	H	0.96111	3.77	0.53688	D	0.999972	D	0.69078	0.997	D	0.68483	0.958	T	0.76468	-0.2948	10	0.87932	D	0	.	13.7321	0.62794	0.0:0.0:0.5402:0.4598	.	158	P09238	MMP10_HUMAN	M	158	ENSP00000279441:I158M;ENSP00000441485:I158M	ENSP00000279441:I158M	I	-	3	3	MMP10	102155176	0.952000	0.32445	0.984000	0.44739	0.380000	0.30137	-0.019000	0.12546	-0.302000	0.08869	0.482000	0.46254	ATA		0.408	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			C	102649966	T	C	102649966	3	2	19	1	0	0	0	0	1	0	0	0	9651	1744	61	3	988	3	MMP10	11	102649966	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10	30933605	102649966	32356550	33	1288											
GRIK4	2900	hgsc.bcm.edu	37	11	120745851	120745851	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr11:120745851G>A	ENST00000527524.2	+	11	1350	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.E355K	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	355					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TGGACAGGTAGAATTGGAAGG	0.478																																																0													108	95	99					11																	120745851		2203	4299	6502	SO:0001583	missense	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1063G>A	chr11.hg19:g.120745851G>A	ENSP00000435648:p.Glu355Lys		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	hg19	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.305970	0.81247	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.36157	1.27;1.27	5.92	4.95	0.65309	Extracellular ligand-binding receptor (1);	0.137856	0.64402	D	0.000004	T	0.40222	0.1108	M	0.66939	2.045	0.58432	D	0.999997	B;B	0.34226	0.443;0.309	B;B	0.34346	0.18;0.18	T	0.39583	-0.9607	10	0.56958	D	0.05	.	15.9157	0.79517	0.0:0.0:0.8642:0.1358	.	355;355	A6H8K8;Q16099	.;GRIK4_HUMAN	K	355	ENSP00000435648:E355K;ENSP00000404063:E355K	ENSP00000404063:E355K	E	+	1	0	GRIK4	120251061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.544000	0.82117	2.793000	0.96121	0.651000	0.88453	GAA		0.478	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		A	120745851	G	A	120745851	3	1	19	1	0	0	0	0	1	0	0	0	6778	943	33	2	1097	2	GRIK4	11	120745851	Missense_Mutation	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10	18095885	120745851	14260665	34	1289											
ITFG2	55846	hgsc.bcm.edu	37	12	2929937	2929937	+	Silent	SNP	G	G	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr12:2929937G>A	ENST00000228799.2	+	6	733	c.594G>A	c.(592-594)ctG>ctA	p.L198L	ITFG2_ENST00000542548.1_Silent_p.L86L|ITFG2_ENST00000419778.2_Silent_p.L21L	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	198					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TTCCTGAACTGATGGTGTCTC	0.562																																																0													137	116	123					12																	2929937		2203	4300	6503	SO:0001819	synonymous_variant	55846			AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.594G>A	chr12.hg19:g.2929937G>A			A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Silent	SNP	ENST00000228799.2	hg19	CCDS8513.1																																																																																				0.562	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		A	2929937	G	A	2929937	2	1	19	1	0	0	0	0	0	0	0	1	7872	1277	45	2		2	ITFG2	12	2929937	Silent	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10		2929937	130921958	35	1290											
KLRG1	10219	hgsc.bcm.edu	37	12	9161629	9161629	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr12:9161629C>G	ENST00000266551.4	+	4	431	c.416C>G	c.(415-417)tCt>tGt	p.S139C	KLRG1_ENST00000356986.3_Missense_Mutation_p.S139C|KLRG1_ENST00000538029.1_3'UTR	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	139	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						AGGAACAATTCTGGCTGGAGG	0.453																																																0													93	90	91					12																	9161629		2203	4300	6503	SO:0001583	missense	10219			AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"Killer cell lectin-like receptors", "C-type lectin domain containing"	6380	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member A"	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.416C>G	chr12.hg19:g.9161629C>G	ENSP00000266551:p.Ser139Cys		B7ZAM2|O43198|O75613	Missense_Mutation	SNP	ENST00000266551.4	hg19		.	.	.	.	.	.	.	.	.	.	C	6.937	0.542572	0.13250	.	.	ENSG00000139187	ENST00000539240;ENST00000356986;ENST00000266551;ENST00000543895	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	3.61	-0.812	0.10853	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.481950	0.04134	N	0.318442	T	0.29783	0.0744	L	0.58669	1.825	0.09310	N	1	D;P	0.63880	0.993;0.939	P;B	0.52793	0.709;0.401	T	0.18116	-1.0347	10	0.66056	D	0.02	-6.6127	3.0673	0.06219	0.4231:0.3431:0.0:0.2338	.	139;139	Q96E93;Q96E93-2	KLRG1_HUMAN;.	C	60;139;139;60	ENSP00000445627:S60C;ENSP00000349477:S139C;ENSP00000266551:S139C;ENSP00000443658:S60C	ENSP00000266551:S139C	S	+	2	0	KLRG1	9052896	0.003000	0.15002	0.000000	0.03702	0.116000	0.19942	-0.279000	0.08479	-0.173000	0.10761	0.643000	0.83706	TCT		0.453	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810		G	9161629	C	G	9161629	3	3	19	1	0	0	0	0	1	0	0	0	8423	913	32	4	430	4	KLRG1	12	9161629	Missense_Mutation	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10	6231692	9161629	124690266	36	1291											
PAN2	9924	hgsc.bcm.edu	37	12	56718077	56718077	+	Splice_Site	SNP	C	C	T			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr12:56718077C>T	ENST00000425394.2	-	12	2305		c.e12+1		PAN2_ENST00000548043.1_Splice_Site|PAN2_ENST00000440411.3_Splice_Site|PAN2_ENST00000257931.5_Splice_Site	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit						osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGATTTCATACCTGCCTCCAG	0.453																																																0													94	96	95					12																	56718077		2203	4300	6503	SO:0001630	splice_region_variant	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1928+1G>A	chr12.hg19:g.56718077C>T				Splice_Site	SNP	ENST00000425394.2	hg19	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977115	0.53720	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	.	.	.	5.39	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.85	0.63489	0.0:0.8469:0.1531:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PAN2	55004344	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.365000	0.66116	1.393000	0.46605	0.557000	0.71058	.		0.453	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871	Intron	T	56718077	C	T	56718077	5	4	19	1	0	0	0	0	0	0	1	0	11416	521	18	2	1739	2	PAN2	12	56718077	Splice_Site	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10	47556448	56718077	77133818	37	1292											
LRP1	4035	hgsc.bcm.edu	37	12	57548344	57548344	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr12:57548344G>A	ENST00000243077.3	+	8	1553	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	LRP1_ENST00000554174.1_Missense_Mutation_p.D363N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	363					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.D363N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAAGCTCGTCGACAGCAAGAT	0.522																																																1	Substitution - Missense(1)	endometrium(1)											114	80	91					12																	57548344		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1087G>A	chr12.hg19:g.57548344G>A	ENSP00000243077:p.Asp363Asn		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719692	0.48728	.	.	ENSG00000123384	ENST00000243077;ENST00000554174	D;D	0.96104	-3.41;-3.91	4.53	4.53	0.55603	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.95623	0.8577	L	0.38175	1.15	0.43835	D	0.996413	D;D	0.89917	0.999;1.0	D;D	0.72625	0.978;0.978	D	0.93779	0.7082	10	0.23891	T	0.37	.	15.1647	0.72814	0.0:0.0:1.0:0.0	.	363;363	Q07954;Q6PJ72	LRP1_HUMAN;.	N	363	ENSP00000243077:D363N;ENSP00000451737:D363N	ENSP00000243077:D363N	D	+	1	0	LRP1	55834611	1.000000	0.71417	0.977000	0.42913	0.916000	0.54674	9.657000	0.98554	2.521000	0.84997	0.650000	0.86243	GAC		0.522	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57548344	G	A	57548344	3	1	19	1	0	0	0	0	1	0	0	0	8953	1058	37	1	1117	1	LRP1	12	57548344	Missense_Mutation	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10	830267	57548344	76303551	38	1293											
GLI1	2735	hgsc.bcm.edu	37	12	57858618	57858618	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr12:57858618G>A	ENST00000228682.2	+	4	447	c.356G>A	c.(355-357)gGc>gAc	p.G119D	GLI1_ENST00000546141.1_Missense_Mutation_p.G78D|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	119					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCTCCAGGAGGCTCCTACGGT	0.587																																					Pancreas(157;841 1936 10503 41495 50368)											0													118	102	108					12																	57858618		2203	4300	6503	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.356G>A	chr12.hg19:g.57858618G>A	ENSP00000228682:p.Gly119Asp		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	hg19	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	g	23.4	4.417691	0.83449	.	.	ENSG00000111087	ENST00000228682;ENST00000546141;ENST00000528432;ENST00000528467	T;T;T	0.18502	2.21;2.24;2.24	3.62	3.62	0.41486	.	0.000000	0.47852	D	0.000216	T	0.41143	0.1146	M	0.75085	2.285	0.52099	D	0.999942	D	0.76494	0.999	D	0.76071	0.987	T	0.45131	-0.9282	10	0.72032	D	0.01	.	14.557	0.68106	0.0:0.0:1.0:0.0	.	119	P08151	GLI1_HUMAN	D	119;78;119;78	ENSP00000228682:G119D;ENSP00000441006:G78D;ENSP00000434408:G78D	ENSP00000228682:G119D	G	+	2	0	GLI1	56144885	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	9.508000	0.98000	2.017000	0.59298	0.556000	0.70494	GGC		0.587	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		A	57858618	G	A	57858618	3	1	19	1	0	0	0	0	1	0	0	0	6439	1203	42	2	366	2	GLI1	12	57858618	Missense_Mutation	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10	310274	57858618	75993277	39	1294											
USP44	84101	hgsc.bcm.edu	37	12	95922715	95922716	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr12:95922715_95922716CC>TA	ENST00000258499.3	-	3	1779_1780	c.1491_1492GG>TA	c.(1489-1494)ttGGag>ttTAag	p.497_498LE>FK	USP44_ENST00000537435.2_Missense_Mutation_p.497_498LE>FK|USP44_ENST00000552440.1_Intron|USP44_ENST00000393091.2_Missense_Mutation_p.497_498LE>FK	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	497	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TCTGGAAACTCCAATGACAAGT	0.371																																																0																																										SO:0001583	missense	84101			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1491_1492delinsTA	chr12.hg19:g.95922715_95922716delinsTA	ENSP00000258499:p.L497_E498delinsFK		B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	hg19	CCDS9053.1																																																																																				0.371	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		TA	95922716	CC	TA	95922715	3	4	19	1	0	0	0	0	1	0	0	0	17080	864	30	2	662	2	USP44	12	95922715	Missense_Mutation	DNP	CC	TCGA-2Z-A9JP-01A-11D-A42J-10	38064097	95922715	37929180	40	1295											
CKAP4	10970	hgsc.bcm.edu	37	12	106633493	106633493	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr12:106633493A>C	ENST00000378026.4	-	2	1254	c.1118T>G	c.(1117-1119)cTg>cGg	p.L373R	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	373						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTCTTCCTCCAGTCTCCGGAT	0.647																																																0													33	37	36					12																	106633493		2201	4300	6501	SO:0001583	missense	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1118T>G	chr12.hg19:g.106633493A>C	ENSP00000367265:p.Leu373Arg		Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	hg19	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107665	0.77096	.	.	ENSG00000136026	ENST00000378026	T	0.78816	-1.21	5.82	5.82	0.92795	.	0.216802	0.39210	N	0.001438	D	0.87180	0.6113	M	0.76328	2.33	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	D	0.85499	0.1190	10	0.28530	T	0.3	-22.5377	16.19	0.81981	1.0:0.0:0.0:0.0	.	373	Q07065	CKAP4_HUMAN	R	373	ENSP00000367265:L373R	ENSP00000367265:L373R	L	-	2	0	CKAP4	105157623	1.000000	0.71417	0.932000	0.37286	0.809000	0.45718	7.726000	0.84824	2.225000	0.72522	0.460000	0.39030	CTG		0.647	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			C	106633493	A	C	106633493	3	2	19	1	0	0	0	0	1	0	0	0	3446	188	7	5	694	5	CKAP4	12	106633493	Missense_Mutation	SNP	A	TCGA-2Z-A9JP-01A-11D-A42J-10	10710778	106633493	27218402	41	1296											
PARP4	143	hgsc.bcm.edu	37	13	25033245	25033245	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr13:25033245C>G	ENST00000381989.3	-	20	2466	c.2361G>C	c.(2359-2361)atG>atC	p.M787I	PARP4_ENST00000480576.1_5'UTR	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	787					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTCAATAGACATAGTCAAAG	0.299																																																0													82	83	83					13																	25033245		2202	4300	6502	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2361G>C	chr13.hg19:g.25033245C>G	ENSP00000371419:p.Met787Ile		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	hg19	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	6.984	0.551711	0.13374	.	.	ENSG00000102699	ENST00000381989	T	0.01685	4.69	4.48	2.67	0.31697	.	0.232106	0.48286	D	0.000199	T	0.02533	0.0077	L	0.58669	1.825	0.40080	D	0.976127	B	0.11235	0.004	B	0.08055	0.003	T	0.43180	-0.9407	10	0.49607	T	0.09	-9.9497	9.293	0.37797	0.0:0.8127:0.0:0.1873	.	787	Q9UKK3	PARP4_HUMAN	I	787	ENSP00000371419:M787I	ENSP00000371419:M787I	M	-	3	0	PARP4	23931245	1.000000	0.71417	0.770000	0.31555	0.185000	0.23345	1.818000	0.39012	1.107000	0.41642	0.447000	0.29281	ATG		0.299	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		G	25033245	C	G	25033245	3	3	19	1	0	0	0	0	1	0	0	0	11465	478	17	4	2873	4	PARP4	13	25033245	Missense_Mutation	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10		25033245	90136633	42	1297											
TSC22D1	8848	hgsc.bcm.edu	37	13	45148240	45148240	+	Silent	SNP	T	T	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr13:45148240T>C	ENST00000458659.2	-	1	2461	c.1971A>G	c.(1969-1971)gtA>gtG	p.V657V	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	657	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GCTGCTGTTGTACATACTCTG	0.498																																																0													95	91	92					13																	45148240		2203	4300	6503	SO:0001819	synonymous_variant	8848			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1971A>G	chr13.hg19:g.45148240T>C			B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	hg19	CCDS31966.1																																																																																				0.498	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		C	45148240	T	C	45148240	2	2	19	1	0	0	0	0	0	0	0	1	16612	1625	57	3		3	TSC22D1	13	45148240	Silent	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10	20114995	45148240	70021638	43	1298											
EXD2	55218	hgsc.bcm.edu	37	14	69697226	69697226	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr14:69697226C>A	ENST00000409018.3	+	4	756	c.628C>A	c.(628-630)Ctc>Atc	p.L210I	EXD2_ENST00000409949.1_Missense_Mutation_p.L85I|EXD2_ENST00000312994.5_Missense_Mutation_p.L210I|EXD2_ENST00000409675.1_Missense_Mutation_p.L85I|EXD2_ENST00000409014.1_Missense_Mutation_p.L85I|EXD2_ENST00000449989.1_Missense_Mutation_p.L85I|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409242.1_Missense_Mutation_p.L85I	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	210	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCTGAAGTCCCTCGCTGAGAC	0.433																																																0													166	157	160					14																	69697226		2203	4300	6503	SO:0001583	missense	55218			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.628C>A	chr14.hg19:g.69697226C>A	ENSP00000387331:p.Leu210Ile		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	hg19	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515379	0.85389	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	D;D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.33	5.33	0.75918	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.91686	0.7372	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.92163	0.5737	10	0.72032	D	0.01	-13.1435	13.1813	0.59655	0.0:0.9164:0.0:0.0836	.	210;85	G5E947;Q9NVH0	.;EXD2_HUMAN	I	210;210;85;85;85;85;210;85;85	ENSP00000387331:L210I;ENSP00000386915:L85I;ENSP00000386762:L85I;ENSP00000386632:L85I;ENSP00000386839:L85I;ENSP00000313140:L210I;ENSP00000409089:L85I;ENSP00000392177:L85I	ENSP00000193422:L210I	L	+	1	0	EXD2	68766979	0.998000	0.40836	0.971000	0.41717	0.854000	0.48673	3.595000	0.54016	2.637000	0.89404	0.655000	0.94253	CTC		0.433	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			A	69697226	C	A	69697226	3	1	19	1	0	0	0	0	1	0	0	0	5300	681	24	4	259	4	EXD2	14	69697226	Missense_Mutation	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10		69697226	37652314	44	1299											
KIF26A	26153	hgsc.bcm.edu	37	14	104618786	104618786	+	Silent	SNP	G	G	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr14:104618786G>A	ENST00000423312.2	+	3	723	c.723G>A	c.(721-723)ccG>ccA	p.P241P	KIF26A_ENST00000315264.7_Silent_p.P102P	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCTTCCTCCCGCCGGCGTGCC	0.657																																																0													6	6	6					14																	104618786		1915	3779	5694	SO:0001819	synonymous_variant	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.723G>A	chr14.hg19:g.104618786G>A			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	hg19	CCDS45171.1																																																																																				0.657	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			A	104618786	G	A	104618786	2	1	19	1	0	0	0	0	0	0	0	1	8296	1074	38	1		1	KIF26A	14	104618786	Silent	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10	34921560	104618786	2730754	45	1300											
PKM2	5315	hgsc.bcm.edu	37	15	72502795	72502795	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr15:72502795C>T	ENST00000335181.5	-	4	374	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	PKM_ENST00000568459.1_Missense_Mutation_p.V91M|PKM_ENST00000319622.6_Missense_Mutation_p.V91M|PKM_ENST00000568883.1_Intron|PKM_ENST00000565184.1_Missense_Mutation_p.V91M|PKM_ENST00000449901.2_Missense_Mutation_p.V76M|PKM_ENST00000565154.1_Missense_Mutation_p.V91M|PKM_ENST00000389093.3_Missense_Mutation_p.V91M	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	91					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	GCTGTGCGCACATTCTTGATG	0.552																																																0													111	94	100					15																	72502795		2199	4297	6496	SO:0001583	missense	5315			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.271G>A	chr15.hg19:g.72502795C>T	ENSP00000334983:p.Val91Met		A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	hg19	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440858	0.83993	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000389093;ENST00000449901	D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24	5.38	5.38	0.77491	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.994;0.992;0.992;0.986	D	0.97546	1.0089	10	0.87932	D	0	-27.492	19.4991	0.95086	0.0:1.0:0.0:0.0	.	76;91;91;91;91	B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2	.;.;.;KPYM_HUMAN;.	M	91;91;91;76	ENSP00000320171:V91M;ENSP00000334983:V91M;ENSP00000373745:V91M;ENSP00000403365:V76M	ENSP00000320171:V91M	V	-	1	0	PKM2	70289849	0.982000	0.34865	0.980000	0.43619	0.825000	0.46686	2.637000	0.46553	2.669000	0.90835	0.563000	0.77884	GTG		0.552	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			T	72502795	C	T	72502795	3	4	19	1	0	0	0	0	1	0	0	0	11979	478	17	2	1527	2	PKM2	15	72502795	Missense_Mutation	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10		72502795	30028597	46	1301											
ARIH1	25820	hgsc.bcm.edu	37	15	72855824	72855824	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr15:72855824A>C	ENST00000379887.4	+	7	1208	c.894A>C	c.(892-894)aaA>aaC	p.K298N		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	298					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TTCGCTGCAAATGTGGGCGCC	0.403																																																0													111	103	105					15																	72855824		2198	4297	6495	SO:0001583	missense	25820			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.894A>C	chr15.hg19:g.72855824A>C	ENSP00000369217:p.Lys298Asn		B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	hg19	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500753	0.44455	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	T	0.80994	-1.44	5.75	2.12	0.27331	Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.74943	0.3783	M	0.64170	1.965	0.58432	D	0.999993	P	0.36712	0.566	B	0.36766	0.232	T	0.68224	-0.5465	10	0.42905	T	0.14	.	8.948	0.35771	0.7351:0.0:0.2649:0.0	.	298	Q9Y4X5	ARI1_HUMAN	N	298;268	ENSP00000369217:K298N	ENSP00000299305:K268N	K	+	3	2	ARIH1	70642878	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.418000	0.44662	0.108000	0.17862	0.449000	0.29647	AAA		0.403	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		C	72855824	A	C	72855824	3	2	19	1	0	0	0	0	1	0	0	0	923	98	4	5	920	5	ARIH1	15	72855824	Missense_Mutation	SNP	A	TCGA-2Z-A9JP-01A-11D-A42J-10	353029	72855824	29675568	47	1302											
ITGAX	3687	hgsc.bcm.edu	37	16	31371685	31371696	+	In_Frame_Del	DEL	CATTGTCATCAC	CATTGTCATCAC	-			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	CATTGTCATCAC	CATTGTCATCAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr16:31371685_31371696delCATTGTCATCAC	ENST00000268296.4	+	8	883_894	c.762_773delCATTGTCATCAC	c.(760-774)ctcattgtcatcact>ctt	p.IVIT255del	ITGAX_ENST00000562522.1_In_Frame_Del_p.IVIT255del	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	255	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCAAAATTCTCATTGTCATCACTGATGGGAAG	0.528																																																0																																										SO:0001651	inframe_deletion	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.762_773delCATTGTCATCAC	chr16.hg19:g.31371685_31371696delCATTGTCATCAC	ENSP00000268296:p.Ile255_Thr258del		Q8IVA6	In_Frame_Del	DEL	ENST00000268296.4	hg19	CCDS10711.1																																																																																				0.528	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		-	31371696	CATTGTCATCAC	-	31371685	7	5	19	1	0	1	0	1	0	0	0	0	7891	813	29	0	792	0	ITGAX	16	31371685	In_Frame_Del	DEL	CATTGTCATCAC	TCGA-2Z-A9JP-01A-11D-A42J-10		31371685	58983068	48	1303											
KIF1C	10749	hgsc.bcm.edu	37	17	4925768	4925768	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr17:4925768G>T	ENST00000320785.5	+	22	2749	c.2392G>T	c.(2392-2394)Gct>Tct	p.A798S	AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	798					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CGCCTGGAGGGCTGTGGCCCG	0.697																																					Melanoma(96;1023 1447 10250 19259 33730)											0													29	30	30					17																	4925768		2200	4291	6491	SO:0001583	missense	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2392G>T	chr17.hg19:g.4925768G>T	ENSP00000320821:p.Ala798Ser		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	hg19	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177065	0.57692	.	.	ENSG00000129250	ENST00000320785	T	0.73681	-0.77	4.67	4.67	0.58626	.	.	.	.	.	T	0.76681	0.4021	N	0.25890	0.77	0.49915	D	0.999834	D	0.63880	0.993	D	0.70227	0.968	T	0.73515	-0.3958	9	0.25751	T	0.34	.	15.1017	0.72284	0.0:0.0:1.0:0.0	.	798	O43896	KIF1C_HUMAN	S	798	ENSP00000320821:A798S	ENSP00000320821:A798S	A	+	1	0	KIF1C	4866492	1.000000	0.71417	0.993000	0.49108	0.886000	0.51366	9.657000	0.98554	2.436000	0.82500	0.655000	0.94253	GCT		0.697	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			T	4925768	G	T	4925768	3	4	19	1	0	0	0	0	1	0	0	0	8287	1203	42	4	2470	4	KIF1C	17	4925768	Missense_Mutation	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10		4925768	76269442	49	1304											
MPDU1	9526	hgsc.bcm.edu	37	17	7490749	7490749	+	Silent	SNP	C	C	T	rs371550829		TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr17:7490749C>T	ENST00000250124.6	+	7	840	c.624C>T	c.(622-624)acC>acT	p.T208T	MPDU1_ENST00000423172.2_Intron|MPDU1_ENST00000396501.4_Missense_Mutation_p.P189L	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	208	PQ-loop 2.				dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|oligosaccharide biosynthetic process (GO:0009312)|protein folding (GO:0006457)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						ACCAGGAAACCGGAGATCCCC	0.567																																																0								C		1,4405	2.1+/-5.4	0,1,2202	105	103	104		624	-9.3	0.7	17		104	0,8600		0,0,4300	no	coding-synonymous	MPDU1	NM_004870.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		208/248	7490749	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9526			AF038961	CCDS11115.1	17p13.1-p12	2008-07-03			ENSG00000129255	ENSG00000129255			7207	protein-coding gene	gene with protein product		604041				8663248, 9653160, 11733564	Standard	NM_004870		Approved	SL15, Lec35, PQLC5, CDGIf	uc002ghw.3	O75352	OTTHUMG00000108147	ENST00000250124.6:c.624C>T	chr17.hg19:g.7490749C>T			B3KQP1|B4DT74|Q9BUU8	Silent	SNP	ENST00000250124.6	hg19	CCDS11115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.40|12.40	1.925630|1.925630	0.34002|0.34002	2.27E-4|2.27E-4	0.0|0.0	ENSG00000129255|ENSG00000129255	ENST00000396501|ENST00000359822	.|.	.|.	.|.	5.24|5.24	-9.26|-9.26	0.00662|0.00662	.|.	.|1.727610	.|0.03156	.|N	.|0.168713	T|T	0.54481|0.54481	0.1861|0.1861	.|.	.|.	.|.	0.54753|0.54753	D|D	0.99998|0.99998	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.59611|0.59611	-0.7422|-0.7422	7|6	0.87932|0.62326	D|D	0|0.03	3.3529|3.3529	6.9724|6.9724	0.24656|0.24656	0.3396:0.4581:0.0:0.2023|0.3396:0.4581:0.0:0.2023	.|.	256|.	B4DLH7|.	.|.	L|W	208|208	.|.	ENSP00000379758:P208L|ENSP00000352876:R208W	P|R	+|+	2|1	0|2	MPDU1|MPDU1	7431473|7431473	0.002000|0.002000	0.14202|0.14202	0.713000|0.713000	0.30519|0.30519	0.941000|0.941000	0.58515|0.58515	-2.148000|-2.148000	0.01292|0.01292	-1.641000|-1.641000	0.01523|0.01523	-0.238000|-0.238000	0.12139|0.12139	CCG|CGG		0.567	MPDU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226950.4			T	7490749	C	T	7490749	2	4	19	1	0	0	0	0	0	0	0	1	9723	639	23	1		1	MPDU1	17	7490749	Silent	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10	2564981	7490749	73704461	50	1305											
MAP2K3	5606	hgsc.bcm.edu	37	17	21203904	21203904	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr17:21203904delC	ENST00000342679.4	+	4	462	c.213delC	c.(211-213)ggcfs	p.G71fs	MAP2K3_ENST00000316920.6_Frame_Shift_Del_p.G42fs|MAP2K3_ENST00000361818.5_Frame_Shift_Del_p.G42fs	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	71	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAGAACTGGGCCGTGGAGCCT	0.602																																																0													60	55	57					17																	21203904		2203	4300	6503	SO:0001589	frameshift_variant	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.213delC	chr17.hg19:g.21203904delC	ENSP00000345083:p.Gly71fs		B3KSK7|Q99441|Q9UE71|Q9UE72	Frame_Shift_Del	DEL	ENST00000342679.4	hg19	CCDS11217.1																																																																																				0.602	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		-	21203904	C	-	21203904	7	5	19	1	0	1	0	1	0	0	0	0	9240	726	26	0	227	0	MAP2K3	17	21203904	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JP-01A-11D-A42J-10	13713155	21203904	59991306	51	1306											
FNDC8	54752	hgsc.bcm.edu	37	17	33457438	33457438	+	Silent	SNP	C	C	T			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr17:33457438C>T	ENST00000158009.5	+	4	1075	c.960C>T	c.(958-960)taC>taT	p.Y320Y	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	320						nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		ATCTGGAATACCTATTTCCCT	0.587																																																0													45	47	46					17																	33457438		2203	4300	6503	SO:0001819	synonymous_variant	54752			BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"Fibronectin type III domain containing"	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.960C>T	chr17.hg19:g.33457438C>T			B2R9G6|Q9UFC2	Silent	SNP	ENST00000158009.5	hg19	CCDS11290.1																																																																																				0.587	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559		T	33457438	C	T	33457438	2	4	19	1	0	0	0	0	0	0	0	1	5976	518	18	2		2	FNDC8	17	33457438	Silent	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10	12253534	33457438	47737772	52	1307											
HNF1B	6928	hgsc.bcm.edu	37	17	36104669	36104680	+	In_Frame_Del	DEL	GTGGCCGTTGGT	GTGGCCGTTGGT	-			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	GTGGCCGTTGGT	GTGGCCGTTGGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr17:36104669_36104680delGTGGCCGTTGGT	ENST00000225893.4	-	1	557_568	c.196_207delACCAACGGCCAC	c.(196-207)accaacggccacdel	p.TNGH66del	HNF1B_ENST00000427275.2_In_Frame_Del_p.TNGH66del|RP11-115K3.1_ENST00000558143.1_RNA|HNF1B_ENST00000560016.1_In_Frame_Del_p.TNGH66del|HNF1B_ENST00000561193.1_In_Frame_Del_p.TNGH66del	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	66					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGCCCTTGGCGTGGCCGTTGGTGAGAGTATGG	0.67																																					Colon(71;102 1179 9001 27917 43397)											0			GRCh37	CD024193	HNF1B	D																																				SO:0001651	inframe_deletion	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.196_207delACCAACGGCCAC	chr17.hg19:g.36104669_36104680delGTGGCCGTTGGT	ENSP00000225893:p.Thr66_His69del		B4DKM3|E0YMJ9	In_Frame_Del	DEL	ENST00000225893.4	hg19	CCDS11324.1																																																																																				0.67	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		-	36104680	GTGGCCGTTGGT	-	36104669	7	5	19	1	0	1	0	1	0	0	0	0	7254	1136	40	0	1502	0	HNF1B	17	36104669	In_Frame_Del	DEL	GTGGCCGTTGGT	TCGA-2Z-A9JP-01A-11D-A42J-10	2647231	36104669	45090541	53	1308											
ASB16	92591	hgsc.bcm.edu	37	17	42254547	42254547	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr17:42254547A>T	ENST00000293414.1	+	3	1095	c.1011A>T	c.(1009-1011)gaA>gaT	p.E337D	ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	337					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGAGCCTGAAGTCCTTTTCG	0.701																																																0													2	3	3					17																	42254547		1844	3714	5558	SO:0001583	missense	92591			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1011A>T	chr17.hg19:g.42254547A>T	ENSP00000293414:p.Glu337Asp		B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	hg19	CCDS11478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.37|10.37	1.331654|1.331654	0.24167|0.24167	.|.	.|.	ENSG00000161664|ENSG00000168597	ENST00000293414|ENST00000303061	T|.	0.66460|.	-0.21|.	4.95|4.95	0.684|0.684	0.18003|0.18003	Ankyrin repeat-containing domain (2);|.	0.335476|.	0.34223|.	N|.	0.004160|.	T|T	0.35828|0.35828	0.0945|0.0945	M|M	0.61703|0.61703	1.905|1.905	0.33725|0.33725	D|D	0.617503|0.617503	B|P	0.06786|0.39696	0.001|0.683	B|B	0.06405|0.33295	0.002|0.161	T|T	0.47661|0.47661	-0.9100|-0.9100	10|8	0.42905|0.87932	T|D	0.14|0	-12.3109|-12.3109	2.7739|2.7739	0.05342|0.05342	0.1522:0.2645:0.4472:0.136|0.1522:0.2645:0.4472:0.136	.|.	337|25	Q96NS5|Q495Z4	ASB16_HUMAN|CQ065_HUMAN	D|H	337|25	ENSP00000293414:E337D|.	ENSP00000293414:E337D|ENSP00000366342:L25H	E|L	+|-	3|2	2|0	ASB16|C17orf65	39610073|39610073	0.839000|0.839000	0.29477|0.29477	0.954000|0.954000	0.39281|0.39281	0.094000|0.094000	0.18550|0.18550	1.047000|1.047000	0.30367|0.30367	0.021000|0.021000	0.15133|0.15133	-0.253000|-0.253000	0.11424|0.11424	GAA|CTT		0.701	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			T	42254547	A	T	42254547	3	4	19	1	0	0	0	0	1	0	0	0	1020	72	3	5	1021	5	ASB16	17	42254547	Missense_Mutation	SNP	A	TCGA-2Z-A9JP-01A-11D-A42J-10	6149878	42254547	38940663	54	1309											
JMJD6	23210	hgsc.bcm.edu	37	17	74714915	74714915	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr17:74714915T>C	ENST00000397625.4	-	6	1222	c.1108A>G	c.(1108-1110)Aca>Gca	p.T370A	JMJD6_ENST00000445478.2_Missense_Mutation_p.T370A|JMJD6_ENST00000585429.1_Silent_p.G323G	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	370					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CGGTGCACTGTCCCATCGCCC	0.567																																																0													85	90	89					17																	74714915		2130	4233	6363	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.1108A>G	chr17.hg19:g.74714915T>C	ENSP00000380750:p.Thr370Ala		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	hg19	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.775446	0.31411	.	.	ENSG00000070495	ENST00000445478;ENST00000397625	.	.	.	6.17	5.1	0.69264	.	0.345176	0.33959	N	0.004383	T	0.20414	0.0491	N	0.08118	0	0.27217	N	0.959752	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17684	-1.0361	9	0.06099	T	0.92	-17.7187	12.092	0.53733	0.0:0.0663:0.0:0.9337	.	370;370	Q6NYC1;Q6NYC1-3	JMJD6_HUMAN;.	A	370	.	ENSP00000380750:T370A	T	-	1	0	JMJD6	72226510	0.585000	0.26774	0.030000	0.17652	0.900000	0.52787	2.454000	0.44979	1.160000	0.42584	0.533000	0.62120	ACA		0.567	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		C	74714915	T	C	74714915	3	2	19	1	0	0	0	0	1	0	0	0	7955	1667	58	3	148	3	JMJD6	17	74714915	Missense_Mutation	SNP	T	TCGA-2Z-A9JP-01A-11D-A42J-10	32460368	74714915	6480295	55	1310											
SEC14L1	6397	hgsc.bcm.edu	37	17	75202482	75202482	+	Splice_Site	DEL	G	G	-			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr17:75202482delG	ENST00000413679.2	+	12	1644	c.1341delG	c.(1339-1341)ctg>ct	p.L447fs	SEC14L1_ENST00000443798.4_Splice_Site_p.L447fs|SEC14L1_ENST00000392476.2_Splice_Site_p.L447fs|SEC14L1_ENST00000431431.2_Splice_Site_p.L413fs|SEC14L1_ENST00000585618.1_Splice_Site_p.L447fs|SEC14L1_ENST00000591437.1_Splice_Site_p.L413fs|SEC14L1_ENST00000436233.4_Splice_Site_p.L447fs|SEC14L1_ENST00000430767.4_Splice_Site_p.L447fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	447	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCTGGACGCTGGTGGGTTGAG	0.517																																																0													60	56	57					17																	75202482		2203	4300	6503	SO:0001630	splice_region_variant	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1341+1G>-	chr17.hg19:g.75202482delG			A8K4E8|B4DDI5|D5G3K1|Q99780	Frame_Shift_Del	DEL	ENST00000413679.2	hg19	CCDS11752.1																																																																																				0.517	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	Frame_Shift_Del	-	75202482	G	-	75202482	8	5	19	1	0	1	0	1	0	0	1	0	13987	1362	47	0	1379	0	SEC14L1	17	75202482	Splice_Site	DEL	G	TCGA-2Z-A9JP-01A-11D-A42J-10	487567	75202482	5992728	56	1311											
CHST9	83539	hgsc.bcm.edu	37	18	24722672	24722672	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr18:24722672C>A	ENST00000284224.8	-	2	379	c.102G>T	c.(100-102)tgG>tgT	p.W34C	CHST9_ENST00000580774.1_Missense_Mutation_p.W34C|CHST9_ENST00000581714.1_Missense_Mutation_p.W34C|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	34					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GTTCTTCAATCCAGACTTGCA	0.348																																																0													97	90	92					18																	24722672		1834	4082	5916	SO:0001583	missense	83539			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.102G>T	chr18.hg19:g.24722672C>A	ENSP00000284224:p.Trp34Cys		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	hg19	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	9.223	1.033889	0.19590	.	.	ENSG00000154080	ENST00000284224	T	0.75154	-0.91	5.21	2.32	0.28847	.	0.949413	0.08796	N	0.892524	T	0.56949	0.2020	N	0.12182	0.205	0.50313	D	0.999866	B	0.02656	0.0	B	0.04013	0.001	T	0.35649	-0.9780	10	0.42905	T	0.14	1.249	8.8188	0.35011	0.3043:0.5489:0.1469:0.0	.	34	Q7L1S5	CHST9_HUMAN	C	34	ENSP00000284224:W34C	ENSP00000284224:W34C	W	-	3	0	CHST9	22976670	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	0.897000	0.28390	0.167000	0.19631	0.484000	0.47621	TGG		0.348	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		A	24722672	C	A	24722672	3	1	19	1	0	0	0	0	1	0	0	0	3413	856	30	4	1249	4	CHST9	18	24722672	Missense_Mutation	SNP	C	TCGA-2Z-A9JP-01A-11D-A42J-10		24722672	53354576	57	1312											
ZNF567	163081	hgsc.bcm.edu	37	19	37210602	37210602	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr19:37210602G>T	ENST00000536254.2	+	6	1198	c.976G>T	c.(976-978)Gat>Tat	p.D326Y	ZNF567_ENST00000360729.4_Missense_Mutation_p.D295Y|ZNF567_ENST00000585696.1_Missense_Mutation_p.D295Y|ZNF567_ENST00000392163.2_Missense_Mutation_p.D295Y|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.D295Y			Q8N184	ZN567_HUMAN	zinc finger protein 567	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGCCCTCACTGATCATCAGAG	0.438																																																0													64	62	63					19																	37210602		2203	4300	6503	SO:0001583	missense	163081			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.976G>T	chr19.hg19:g.37210602G>T	ENSP00000441838:p.Asp326Tyr		B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	hg19		.	.	.	.	.	.	.	.	.	.	G	13.05	2.119936	0.37436	.	.	ENSG00000189042	ENST00000536254;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.16073	2.37;2.37;2.37	4.53	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144563	0.32134	N	0.006533	T	0.09555	0.0235	N	0.05383	-0.06	0.09310	N	0.999994	P;P	0.50710	0.938;0.924	P;P	0.48952	0.596;0.461	T	0.11518	-1.0584	10	0.46703	T	0.11	.	3.8123	0.08802	0.2795:0.1877:0.5328:0.0	.	326;295	Q8N184;F8WEL6	ZN567_HUMAN;.	Y	326;295;325;295	ENSP00000441838:D326Y;ENSP00000353957:D295Y;ENSP00000376003:D295Y	ENSP00000353957:D295Y	D	+	1	0	ZNF567	41902442	0.000000	0.05858	0.938000	0.37757	0.987000	0.75469	-0.067000	0.11579	0.608000	0.30000	0.462000	0.41574	GAT		0.438	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		T	37210602	G	T	37210602	3	4	19	1	0	0	0	0	1	0	0	0	18003	1290	45	4	893	4	ZNF567	19	37210602	Missense_Mutation	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10		37210602	21918381	58	1313											
DMPK	1760	hgsc.bcm.edu	37	19	46273845	46273847	+	In_Frame_Del	DEL	AAC	AAC	-	rs201332435	byFrequency	TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr19:46273845_46273847delAAC	ENST00000291270.4	-	15	1914_1916	c.1789_1791delGTT	c.(1789-1791)gttdel	p.V597del	AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586498.1_RNA|SIX5_ENST00000317578.6_5'Flank|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000354227.5_3'UTR|DMPK_ENST00000447742.2_In_Frame_Del_p.V592del|DMPK_ENST00000458663.2_In_Frame_Del_p.L590del|SIX5_ENST00000560168.1_5'Flank|DMPK_ENST00000343373.4_In_Frame_Del_p.V607del|DMPK_ENST00000600757.1_In_Frame_Del_p.L600del	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	597					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CACGAGACAGAACAACGGCGAAC	0.695											OREG0025561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(35;307 869 9153 24033 28903)											0																																										SO:0001651	inframe_deletion	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1789_1791delGTT	chr19.hg19:g.46273848_46273850delAAC	ENSP00000291270:p.Val597del	938	E5KR08|Q16205|Q6P5Z6	In_Frame_Del	DEL	ENST00000291270.4	hg19	CCDS12674.1																																																																																				0.695	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		-	46273847	AAC	-	46273845	7	5	19	1	0	1	0	1	0	0	0	0	4586	246	9	0	109	0	DMPK	19	46273845	In_Frame_Del	DEL	AAC	TCGA-2Z-A9JP-01A-11D-A42J-10	9063243	46273845	12855138	59	1314											
REM1	28954	hgsc.bcm.edu	37	20	30064340	30064340	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JP-01A-11D-A42J-10	TCGA-2Z-A9JP-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fce839b6-a61e-4bd6-9fd4-2c885a257ac7	8f3d9061-9b3b-4029-9155-3d169642c461	g.chr20:30064340G>A	ENST00000201979.2	+	2	385	c.92G>A	c.(91-93)gGc>gAc	p.G31D	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	31					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACCAGCCTGGCCGCCTGAGC	0.642																																																0													76	87	84					20																	30064340		2203	4300	6503	SO:0001583	missense	28954			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.92G>A	chr20.hg19:g.30064340G>A	ENSP00000201979:p.Gly31Asp		E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	hg19	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271745	0.40194	.	.	ENSG00000088320	ENST00000201979	T	0.64991	-0.13	4.55	3.58	0.41010	.	0.709246	0.12931	N	0.427349	T	0.50939	0.1645	L	0.27053	0.805	0.43338	D	0.99538	B	0.17268	0.021	B	0.23419	0.046	T	0.45614	-0.9249	10	0.49607	T	0.09	.	12.1576	0.54085	0.0:0.174:0.826:0.0	.	31	O75628	REM1_HUMAN	D	31	ENSP00000201979:G31D	ENSP00000201979:G31D	G	+	2	0	REM1	29528001	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	3.986000	0.56937	1.088000	0.41272	0.655000	0.94253	GGC		0.642	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		A	30064340	G	A	30064340	3	1	19	1	0	0	0	0	1	0	0	0	13228	1203	42	2	94	2	REM1	20	30064340	Missense_Mutation	SNP	G	TCGA-2Z-A9JP-01A-11D-A42J-10		30064340	32961180	60	1315											
INADL	10207	hgsc.bcm.edu	37	1	62288639	62288639	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr1:62288639G>C	ENST00000371158.2	+	15	1820	c.1706G>C	c.(1705-1707)aGg>aCg	p.R569T	INADL_ENST00000316485.6_Missense_Mutation_p.R569T	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	569	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.R569M(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CACACTCTGAGGCTTGGTGTG	0.438																																																1	Substitution - Missense(1)	lung(1)											229	208	215					1																	62288639		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1706G>C	chr1.hg19:g.62288639G>C	ENSP00000360200:p.Arg569Thr		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	hg19	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987438	0.74589	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.38560	1.13;1.13	4.99	4.99	0.66335	PDZ/DHR/GLGF (3);	0.000000	0.64402	D	0.000002	T	0.55593	0.1930	L	0.35723	1.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.962	T	0.53085	-0.8488	10	0.37606	T	0.19	.	17.8838	0.88849	0.0:0.0:1.0:0.0	.	569;569;569	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	T	569	ENSP00000360200:R569T;ENSP00000326199:R569T	ENSP00000255202:R569T	R	+	2	0	INADL	62061227	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.336000	0.90033	2.322000	0.78497	0.561000	0.74099	AGG		0.438	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		C	62288639	G	C	62288639	3	2	20	1	0	0	0	0	1	0	0	0	7733	1000	35	4	1760	4	INADL	1	62288639	Missense_Mutation	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10		62288639	186961982	1	1316											
NOTCH2	4853	hgsc.bcm.edu	37	1	120464974	120464975	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr1:120464974_120464975CC>AT	ENST00000256646.2	-	28	5316_5317	c.5097_5098GG>AT	c.(5095-5100)atGGca>atATca	p.1699_1700MA>IS	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1699					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCGTTTTGCCATGATTACCC	0.5			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0																																										SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5097_5098delinsAT	chr1.hg19:g.120464974_120464975delinsAT	ENSP00000256646:p.M1699_A1700delinsIS		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	hg19	CCDS908.1																																																																																				0.5	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		AT	120464975	CC	AT	120464974	3	1	20	1	0	0	0	0	1	0	0	0	10550	739	26	4	2345	4	NOTCH2	1	120464974	Missense_Mutation	DNP	CC	TCGA-2Z-A9JQ-01A-11D-A42J-10	58176335	120464974	128785647	2	1317											
ILF2	3608	hgsc.bcm.edu	37	1	153636583	153636584	+	Missense_Mutation	DNP	AG	AG	GA			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr1:153636583_153636584AG>GA	ENST00000361891.4	-	10	804_805	c.679_680CT>TC	c.(679-681)CTg>TCg	p.L227S	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	227	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGTCCTTCAGTAGTCTGATG	0.411																																																0																																										SO:0001583	missense	3608			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"interleukin enhancer binding factor 2, 45kD", "interleukin enhancer binding factor 2, 45kDa"			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.679_680delinsGA	chr1.hg19:g.153636583_153636584delinsGA	ENSP00000355011:p.Leu227Ser		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation|Silent	SNP	ENST00000361891.4	hg19	CCDS1050.1																																																																																				0.411	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		GA	153636584	AG	GA	153636583	3	3	20	1	0	0	0	0	1	0	0	0	7713	188	7	3	512	3	ILF2	1	153636583	Missense_Mutation	DNP	AG	TCGA-2Z-A9JQ-01A-11D-A42J-10	33171609	153636583	95614038	3	1318											
PEAR1	375033	hgsc.bcm.edu	37	1	156876627	156876627	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr1:156876627C>T	ENST00000338302.3	+	7	824	c.599C>T	c.(598-600)cCc>cTc	p.P200L	PEAR1_ENST00000292357.7_Missense_Mutation_p.P200L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	200					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTGCGATCCCCAGACTGGA	0.617																																																0													49	49	49					1																	156876627		2203	4300	6503	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.599C>T	chr1.hg19:g.156876627C>T	ENSP00000344465:p.Pro200Leu		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	hg19	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549844	0.45383	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.58797	0.31;0.31	4.81	2.88	0.33553	.	0.135547	0.34245	N	0.004132	T	0.32071	0.0817	L	0.56769	1.78	0.47994	D	0.999563	B	0.31435	0.323	B	0.27380	0.079	T	0.18116	-1.0347	9	.	.	.	.	9.3744	0.38275	0.0:0.8172:0.0:0.1828	.	200	Q5VY43	PEAR1_HUMAN	L	200	ENSP00000344465:P200L;ENSP00000292357:P200L	.	P	+	2	0	PEAR1	155143251	0.002000	0.14202	1.000000	0.80357	0.985000	0.73830	0.782000	0.26788	1.238000	0.43771	0.561000	0.74099	CCC		0.617	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		T	156876627	C	T	156876627	3	4	20	1	0	0	0	0	1	0	0	0	11714	623	22	2	617	2	PEAR1	1	156876627	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	3240044	156876627	92373994	4	1319											
C1orf106	55765	hgsc.bcm.edu	37	1	200869255	200869255	+	Silent	SNP	G	G	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr1:200869255G>A	ENST00000367342.4	+	4	659	c.459G>A	c.(457-459)gcG>gcA	p.A153A	C1orf106_ENST00000413687.2_Silent_p.A68A	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	153										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCTTGCCAGCGGAGTATCCCC	0.627																																																0													47	42	44					1																	200869255		2202	4300	6502	SO:0001819	synonymous_variant	55765			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.459G>A	chr1.hg19:g.200869255G>A			B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	hg19																																																																																					0.627	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		A	200869255	G	A	200869255	2	1	20	1	0	0	0	0	0	0	0	1	1982	1103	39	1		1	C1orf106	1	200869255	Silent	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	43992628	200869255	48381366	5	1320											
ZFP36L2	678	hgsc.bcm.edu	37	2	43452438	43452438	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr2:43452438T>C	ENST00000282388.3	-	2	798	c.505A>G	c.(505-507)Aag>Gag	p.K169E	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	169					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TCGCCGTACTTGCACGTGCCG	0.637																																																0													47	44	45					2																	43452438		2203	4300	6503	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.505A>G	chr2.hg19:g.43452438T>C	ENSP00000282388:p.Lys169Glu		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	hg19	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435753	0.83885	.	.	ENSG00000152518	ENST00000282388	T	0.52754	0.65	4.65	4.65	0.58169	Zinc finger, CCCH-type (3);	0.477019	0.21330	N	0.076316	T	0.73567	0.3603	M	0.91818	3.245	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.79997	-0.1567	10	0.87932	D	0	-21.6188	13.1367	0.59413	0.0:0.0:0.0:1.0	.	169	P47974	TISD_HUMAN	E	169	ENSP00000282388:K169E	ENSP00000282388:K169E	K	-	1	0	ZFP36L2	43305942	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.528000	0.81941	1.742000	0.51746	0.454000	0.30748	AAG		0.637	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		C	43452438	T	C	43452438	3	2	20	1	0	0	0	0	1	0	0	0	17652	1821	63	3	983	3	ZFP36L2	2	43452438	Missense_Mutation	SNP	T	TCGA-2Z-A9JQ-01A-11D-A42J-10		43452438	199746935	6	1321											
SOCS5	9655	hgsc.bcm.edu	37	2	46986775	46986775	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr2:46986775T>C	ENST00000306503.5	+	2	1278	c.1106T>C	c.(1105-1107)cTc>cCc	p.L369P	SOCS5_ENST00000394861.2_Missense_Mutation_p.L369P	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	369					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ATACACTGCCTCGTGCCTGAT	0.507																																																0													58	56	57					2																	46986775		2203	4300	6503	SO:0001583	missense	9655			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1106T>C	chr2.hg19:g.46986775T>C	ENSP00000305133:p.Leu369Pro		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	hg19	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356193	0.61293	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.40476	1.03;1.03	5.43	5.43	0.79202	SH2 motif (1);	0.064994	0.64402	D	0.000007	T	0.59500	0.2198	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62191	-0.6906	10	0.87932	D	0	-16.2224	15.3001	0.73940	0.0:0.0:0.0:1.0	.	369	O75159	SOCS5_HUMAN	P	369	ENSP00000305133:L369P;ENSP00000378330:L369P	ENSP00000305133:L369P	L	+	2	0	SOCS5	46840279	1.000000	0.71417	0.944000	0.38274	0.989000	0.77384	7.868000	0.87116	2.279000	0.76181	0.533000	0.62120	CTC		0.507	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			C	46986775	T	C	46986775	3	2	20	1	0	0	0	0	1	0	0	0	14923	1551	54	3	1108	3	SOCS5	2	46986775	Missense_Mutation	SNP	T	TCGA-2Z-A9JQ-01A-11D-A42J-10	3534337	46986775	196212598	7	1322											
DCTN1	1639	hgsc.bcm.edu	37	2	74597421	74597421	+	Silent	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr2:74597421C>T	ENST00000361874.3	-	12	1496	c.1179G>A	c.(1177-1179)aaG>aaA	p.K393K	DCTN1_ENST00000409868.1_Silent_p.K376K|DCTN1_ENST00000409438.1_Silent_p.K259K|DCTN1_ENST00000394003.3_Silent_p.K386K|DCTN1_ENST00000409567.3_Silent_p.K373K|DCTN1_ENST00000407639.2_Silent_p.K259K|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409240.1_Silent_p.K356K	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	393					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTTCCATGAGCTTCTGGAGCT	0.537																																																0													72	66	68					2																	74597421		2203	4300	6503	SO:0001819	synonymous_variant	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1179G>A	chr2.hg19:g.74597421C>T			A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	hg19	CCDS1939.1																																																																																				0.537	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		T	74597421	C	T	74597421	2	4	20	1	0	0	0	0	0	0	0	1	4308	796	28	2		2	DCTN1	2	74597421	Silent	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	27610646	74597421	168601952	8	1323											
VWA3B	200403	hgsc.bcm.edu	37	2	98844793	98844793	+	Silent	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr2:98844793C>T	ENST00000477737.1	+	15	2352	c.2148C>T	c.(2146-2148)agC>agT	p.S716S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	716										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATGGAGACAGCAAGTGAGCAC	0.522																																																0													73	74	73					2																	98844793		2048	4198	6246	SO:0001819	synonymous_variant	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2148C>T	chr2.hg19:g.98844793C>T			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	hg19	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	4.479	0.088881	0.08583	.	.	ENSG00000168658	ENST00000473149	.	.	.	5.18	-1.5	0.08691	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0944	0.03664	0.1619:0.4501:0.1904:0.1976	.	.	.	.	X	127	.	.	Q	+	1	0	VWA3B	98211225	0.003000	0.15002	0.052000	0.19188	0.496000	0.33645	-0.656000	0.05342	-0.261000	0.09405	0.467000	0.42956	CAA		0.522	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		T	98844793	C	T	98844793	2	4	20	1	0	0	0	0	0	0	0	1	17246	709	25	2		2	VWA3B	2	98844793	Silent	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	24247372	98844793	144354580	9	1324											
GCC2	9648	hgsc.bcm.edu	37	2	109102163	109102164	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr2:109102163_109102164delAA	ENST00000309863.6	+	14	4399_4400	c.3685_3686delAA	c.(3685-3687)aaafs	p.K1230fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1230					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGTGAAAACCAAAAAGGAACTG	0.272																																																0																																										SO:0001589	frameshift_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3685_3686delAA	chr2.hg19:g.109102165_109102166delAA	ENSP00000307939:p.Lys1230fs		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Del	DEL	ENST00000309863.6	hg19	CCDS33268.1																																																																																				0.272	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		-	109102164	AA	-	109102163	7	5	20	1	0	1	0	1	0	0	0	0	6288	131	5	0	3739	0	GCC2	2	109102163	Frame_Shift_Del	DEL	AA	TCGA-2Z-A9JQ-01A-11D-A42J-10	10257370	109102163	134097210	10	1325											
YSK4	80122	hgsc.bcm.edu	37	2	135779307	135779307	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr2:135779307A>T	ENST00000375845.3	-	2	146	c.116T>A	c.(115-117)tTg>tAg	p.L39*	MAP3K19_ENST00000392918.3_Nonsense_Mutation_p.L39*|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.L56*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Nonsense_Mutation_p.L39*|MAP3K19_ENST00000392917.3_Nonsense_Mutation_p.L39*|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.L39*	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	39							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GATGCTTTGCAAGATGATGTT	0.373																																																0													153	137	142					2																	135779307		2203	4300	6503	SO:0001587	stop_gained	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.116T>A	chr2.hg19:g.135779307A>T	ENSP00000365005:p.Leu39*		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	hg19	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554596	0.86231	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915;ENST00000425952;ENST00000414343	.	.	.	4.44	4.44	0.53790	.	0.000000	0.31010	N	0.008422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0351	0.42125	1.0:0.0:0.0:0.0	.	.	.	.	X	39;39;39;39;39;56;11;11	.	ENSP00000351140:L39X	L	-	2	0	YSK4	135495777	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.668000	0.46816	1.877000	0.54381	0.477000	0.44152	TTG		0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		T	135779307	A	T	135779307	4	4	20	1	0	0	0	0	0	1	0	0	17500	131	5	5	3906	5	YSK4	2	135779307	Nonsense_Mutation	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	26677144	135779307	107420066	11	1326											
TTN	7273	hgsc.bcm.edu	37	2	179435106	179435106	+	Silent	SNP	A	A	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr2:179435106A>T	ENST00000591111.1	-	276	71054	c.70830T>A	c.(70828-70830)gtT>gtA	p.V23610V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V22683V|TTN_ENST00000589042.1_Silent_p.V25251V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V16378V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.V16311V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.V16186V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23610	Fibronectin type-III 71. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACAGTCCAAACTAAGCGGC	0.428																																																0													55	53	54					2																	179435106		1921	4128	6049	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70830T>A	chr2.hg19:g.179435106A>T			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	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179435106	A	T	179435106	2	4	20	1	0	0	0	0	0	0	0	1	16740	1	1	5		5	TTN	2	179435106	Silent	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	43655799	179435106	63764267	12	1327											
CUL3	8452	hgsc.bcm.edu	37	2	225378264	225378264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr2:225378264C>A	ENST00000264414.4	-	5	969	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	CUL3_ENST00000344951.4_Nonsense_Mutation_p.E145*|CUL3_ENST00000432260.2_5'Flank|CUL3_ENST00000409777.1_Nonsense_Mutation_p.E187*|CUL3_ENST00000409096.1_Nonsense_Mutation_p.E187*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	211					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCAGACATTTCCAAAAAAGGA	0.303																																																0													57	60	59					2																	225378264		2202	4300	6502	SO:0001587	stop_gained	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.631G>T	chr2.hg19:g.225378264C>A	ENSP00000264414:p.Glu211*		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Nonsense_Mutation	SNP	ENST00000264414.4	hg19	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	38	6.790642	0.97841	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.	.	.	5.77	5.77	0.91146	.	0.095159	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.0562	0.97651	0.0:1.0:0.0:0.0	.	.	.	.	X	211;145;187;187	.	ENSP00000264414:E211X	E	-	1	0	CUL3	225086508	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.738000	0.68613	2.758000	0.94735	0.644000	0.83932	GAA		0.303	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			A	225378264	C	A	225378264	4	1	20	1	0	0	0	0	0	1	0	0	4058	864	30	4	1723	4	CUL3	2	225378264	Nonsense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	45943158	225378264	17821109	13	1328											
AQP12B	653437	hgsc.bcm.edu	37	2	241622010	241622010	+	Missense_Mutation	SNP	G	G	A	rs374703341		TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr2:241622010G>A	ENST00000407834.3	-	1	307	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	70						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GACCCCGTGCGCCAGGAAGAG	0.672																																																0									VAL/ALA	0,4406		0,0,2203	50	51	51		245	-2.4	0.1	2		51	1,8597		0,1,4298	no	missense	AQP12B	NM_001102467.1	64	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	82/308	241622010	1,13003	2203	4299	6502	SO:0001583	missense	653437			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.245C>T	chr2.hg19:g.241622010G>A	ENSP00000384894:p.Ala82Val		A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	hg19	CCDS46560.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.119709	0.00346	0.0	1.16E-4	ENSG00000185176	ENST00000407834	T	0.06371	3.31	2.53	-2.36	0.06663	.	0.576494	0.18143	N	0.150341	T	0.02047	0.0064	N	0.03224	-0.385	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.44726	-0.9309	9	.	.	.	-0.5459	5.1467	0.14989	0.2663:0.2058:0.5279:0.0	.	82	A6NM10-2	.	V	82	ENSP00000384894:A82V	.	A	-	2	0	AQP12B	241270683	0.001000	0.12720	0.053000	0.19242	0.111000	0.19643	0.052000	0.14163	-0.484000	0.06763	-0.359000	0.07587	GCG		0.672	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			A	241622010	G	A	241622010	3	1	20	1	0	0	0	0	1	0	0	0	825	1087	38	1	690	1	AQP12B	2	241622010	Missense_Mutation	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	16243746	241622010	1577363	14	1329											
SCN11A	11280	hgsc.bcm.edu	37	3	38892111	38892111	+	Silent	SNP	G	G	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr3:38892111G>A	ENST00000302328.3	-	25	4386	c.4188C>T	c.(4186-4188)tcC>tcT	p.S1396S	SCN11A_ENST00000450244.1_Silent_p.S1396S|SCN11A_ENST00000456224.3_Silent_p.S1358S|SCN11A_ENST00000444237.2_Silent_p.S1396S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1396					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTCAAGGATGGATTTCATGG	0.398																																																0													190	171	177					3																	38892111		2203	4300	6503	SO:0001819	synonymous_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4188C>T	chr3.hg19:g.38892111G>A			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	hg19	CCDS33737.1																																																																																				0.398	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		A	38892111	G	A	38892111	2	1	20	1	0	0	0	0	0	0	0	1	13919	1335	47	2		2	SCN11A	3	38892111	Silent	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10		38892111	159130319	15	1330											
PLXNB1	5364	hgsc.bcm.edu	37	3	48457576	48457576	+	Splice_Site	DEL	C	C	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr3:48457576delC	ENST00000358536.4	-	18	3750	c.3481delG	c.(3481-3483)gat>at	p.D1161fs	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Splice_Site_p.D1161fs|PLXNB1_ENST00000358459.4_Splice_Site_p.D978fs|PLXNB1_ENST00000456774.1_Splice_Site_p.D978fs|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1161					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCTTCGGATCCTGTGGGACA	0.647																																																0													20	21	21					3																	48457576		2197	4296	6493	SO:0001630	splice_region_variant	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3481-1G>-	chr3.hg19:g.48457576delC			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Frame_Shift_Del	DEL	ENST00000358536.4	hg19	CCDS2765.1																																																																																				0.647	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673	Frame_Shift_Del	-	48457576	C	-	48457576	8	5	20	1	0	1	0	1	0	0	1	0	12125	869	30	0	3010	0	PLXNB1	3	48457576	Splice_Site	DEL	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	9565465	48457576	149564854	16	1331											
QARS	5859	hgsc.bcm.edu	37	3	49136634	49136634	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr3:49136634C>A	ENST00000306125.6	-	18	2004	c.1667G>T	c.(1666-1668)tGt>tTt	p.C556F	QARS_ENST00000414533.1_Missense_Mutation_p.C545F|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	556					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	ATCACGCACACAGGCTTCTAG	0.542																																																0													105	102	103					3																	49136634		2203	4300	6503	SO:0001583	missense	5859			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1667G>T	chr3.hg19:g.49136634C>A	ENSP00000307567:p.Cys556Phe		B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	hg19	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801459	0.90538	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T;T	0.17370	2.28;2.28;2.28	6.02	6.02	0.97574	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	L	0.55017	1.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00766	-1.1575	10	0.38643	T	0.18	-17.8032	20.5407	0.99260	0.0:1.0:0.0:0.0	.	545;556	B4DWJ2;P47897	.;SYQ_HUMAN	F	76;556;545	ENSP00000396326:C76F;ENSP00000307567:C556F;ENSP00000390015:C545F	ENSP00000307567:C556F	C	-	2	0	QARS	49111638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.579000	0.67457	2.865000	0.98341	0.655000	0.94253	TGT		0.542	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		A	49136634	C	A	49136634	3	1	20	1	0	0	0	0	1	0	0	0	12877	478	17	4	688	4	QARS	3	49136634	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	679058	49136634	148885796	17	1332											
CACNA1D	776	hgsc.bcm.edu	37	3	53699775	53699775	+	Nonsense_Mutation	SNP	T	T	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr3:53699775T>G	ENST00000350061.5	+	6	1366	c.855T>G	c.(853-855)taT>taG	p.Y285*	CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.Y285*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Y285*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	285					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCATAATCTATGCTATTATAG	0.333																																																0													115	116	116					3																	53699775		2203	4300	6503	SO:0001587	stop_gained	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.855T>G	chr3.hg19:g.53699775T>G	ENSP00000288133:p.Tyr285*		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	hg19	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	38	6.984700	0.97983	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	.	.	.	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0112	0.71552	0.0:0.0:0.0:1.0	.	.	.	.	X	285	.	ENSP00000288139:Y285X	Y	+	3	2	CACNA1D	53674815	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.575000	0.46025	2.125000	0.65367	0.533000	0.62120	TAT		0.333	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		G	53699775	T	G	53699775	4	3	20	1	0	0	0	0	0	1	0	0	2543	1471	51	5	877	5	CACNA1D	3	53699775	Nonsense_Mutation	SNP	T	TCGA-2Z-A9JQ-01A-11D-A42J-10	4563141	53699775	144322655	18	1333											
ARHGAP31	57514	hgsc.bcm.edu	37	3	119133437	119133437	+	Silent	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr3:119133437C>T	ENST00000264245.4	+	12	3193	c.2661C>T	c.(2659-2661)gaC>gaT	p.D887D		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	887					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCCTTCAGACTGTGACGAAG	0.557																																					Pancreas(7;176 297 5394 51128 51241)											0													108	111	110					3																	119133437		2075	4217	6292	SO:0001819	synonymous_variant	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2661C>T	chr3.hg19:g.119133437C>T			Q9ULL6	Silent	SNP	ENST00000264245.4	hg19	CCDS43135.1																																																																																				0.557	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			T	119133437	C	T	119133437	2	4	20	1	0	0	0	0	0	0	0	1	880	564	20	2		2	ARHGAP31	3	119133437	Silent	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	65433662	119133437	78888993	19	1334											
PLS1	5357	hgsc.bcm.edu	37	3	142383090	142383090	+	Missense_Mutation	SNP	G	G	T	rs373717334		TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr3:142383090G>T	ENST00000337777.3	+	2	224	c.11G>T	c.(10-12)aGt>aTt	p.S4I	PLS1_ENST00000457734.2_Missense_Mutation_p.S4I|PLS1_ENST00000497002.1_Missense_Mutation_p.S4I	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	4						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.S4N(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ATGGAAAACAGTACTACTACC	0.323																																																1	Substitution - Missense(1)	pancreas(1)											84	85	85					3																	142383090		2203	4300	6503	SO:0001583	missense	5357			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.11G>T	chr3.hg19:g.142383090G>T	ENSP00000336831:p.Ser4Ile		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	hg19	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581186	0.46006	.	.	ENSG00000120756	ENST00000457734;ENST00000483373;ENST00000475296;ENST00000495744;ENST00000461644;ENST00000464320;ENST00000337777;ENST00000497199;ENST00000497002	T;T;T;T;T;T;T;T;T	0.60040	0.8;0.82;0.22;0.56;0.53;0.33;0.8;0.52;0.8	5.44	3.28	0.37604	.	0.174974	0.64402	D	0.000011	T	0.19366	0.0465	N	0.00347	-1.61	0.28604	N	0.909025	B	0.15141	0.012	B	0.16722	0.016	T	0.10428	-1.0630	10	0.49607	T	0.09	-15.4577	4.5182	0.11947	0.4314:0.0:0.5686:0.0	.	4	Q14651	PLSI_HUMAN	I	4	ENSP00000387890:S4I;ENSP00000419893:S4I;ENSP00000417311:S4I;ENSP00000419531:S4I;ENSP00000419271:S4I;ENSP00000418880:S4I;ENSP00000336831:S4I;ENSP00000417491:S4I;ENSP00000418700:S4I	ENSP00000336831:S4I	S	+	2	0	PLS1	143865780	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.794000	0.47853	1.466000	0.48025	0.580000	0.79431	AGT		0.323	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		T	142383090	G	T	142383090	3	4	20	1	0	0	0	0	1	0	0	0	12109	1029	36	4	13	4	PLS1	3	142383090	Missense_Mutation	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	23249653	142383090	55639340	20	1335	13	2									
PLS1	5357	hgsc.bcm.edu	37	3	142383093	142383093	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr3:142383093delC	ENST00000337777.3	+	2	227	c.14delC	c.(13-15)actfs	p.T7fs	PLS1_ENST00000457734.2_Frame_Shift_Del_p.T7fs|PLS1_ENST00000497002.1_Frame_Shift_Del_p.T7fs	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	7						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GAAAACAGTACTACTACCATT	0.323																																																0													84	85	85					3																	142383093		2203	4300	6503	SO:0001589	frameshift_variant	5357			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.14delC	chr3.hg19:g.142383093delC	ENSP00000336831:p.Thr7fs		A8K2Q1|D3DNG3|Q8NEG6	Frame_Shift_Del	DEL	ENST00000337777.3	hg19	CCDS3125.1																																																																																				0.323	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		-	142383093	C	-	142383093	7	5	20	1	0	1	0	1	0	0	0	0	12109	565	20	0	16	0	PLS1	3	142383093	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	3	142383093	55639337	21	1336	13	2									
TACC3	10460	hgsc.bcm.edu	37	4	1729484	1729485	+	Missense_Mutation	DNP	CA	CA	GT			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr4:1729484_1729485CA>GT	ENST00000313288.4	+	4	461_462	c.355_356CA>GT	c.(355-357)CAg>GTg	p.Q119V		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	119					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TGGAATTCTACAGAAACCAGTG	0.54																																					Ovarian(120;482 2294 11894 35824)											0																																										SO:0001583	missense	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	Exception_encountered	chr4.hg19:g.1729484_1729485delinsGT	ENSP00000326550:p.Gln119Val		Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	hg19	CCDS3352.1																																																																																				0.54	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			GT	1729485	CA	GT	1729484	3	3	20	1	0	0	0	0	1	0	0	0	15508	479	17	4	365	4	TACC3	4	1729484	Missense_Mutation	DNP	CA	TCGA-2Z-A9JQ-01A-11D-A42J-10		1729484	189424792	22	1337											
ATP10D	57205	hgsc.bcm.edu	37	4	47574963	47574963	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr4:47574963G>T	ENST00000273859.3	+	18	3584	c.3315G>T	c.(3313-3315)tgG>tgT	p.W1105C		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1105					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGGACACTGGTGTTATACAC	0.448																																																0													279	263	268					4																	47574963		2203	4300	6503	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3315G>T	chr4.hg19:g.47574963G>T	ENSP00000273859:p.Trp1105Cys		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	hg19	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704143	0.88924	.	.	ENSG00000145246	ENST00000273859	T	0.72167	-0.63	6.06	6.06	0.98353	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91174	0.4971	10	0.87932	D	0	-11.8389	20.6397	0.99537	0.0:0.0:1.0:0.0	.	1105	Q9P241	AT10D_HUMAN	C	1105	ENSP00000273859:W1105C	ENSP00000273859:W1105C	W	+	3	0	ATP10D	47269720	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.020000	0.88740	2.880000	0.98712	0.650000	0.86243	TGG		0.448	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		T	47574963	G	T	47574963	3	4	20	1	0	0	0	0	1	0	0	0	1118	1270	44	4	3381	4	ATP10D	4	47574963	Missense_Mutation	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	45845479	47574963	143579313	23	1338											
ANKRD17	26057	hgsc.bcm.edu	37	4	74027050	74027050	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr4:74027050G>T	ENST00000358602.4	-	3	679	c.563C>A	c.(562-564)tCc>tAc	p.S188Y	ANKRD17_ENST00000330838.6_Missense_Mutation_p.S188Y|ANKRD17_ENST00000509867.2_Missense_Mutation_p.S75Y	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	188					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCAGCCGTGGACAATTTTCC	0.408																																																0													102	95	97					4																	74027050		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.563C>A	chr4.hg19:g.74027050G>T	ENSP00000351416:p.Ser188Tyr		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	hg19	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096994	0.94197	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.71461	-0.4;-0.27;-0.57	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	T	0.81192	0.4771	L	0.50333	1.59	0.40447	D	0.980101	P;D;D;D	0.64830	0.894;0.994;0.981;0.989	P;D;P;P	0.66716	0.706;0.946;0.825;0.706	T	0.82647	-0.0354	10	0.72032	D	0.01	.	19.4722	0.94967	0.0:0.0:1.0:0.0	.	188;188;188;75	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	Y	188;188;188;75;188	ENSP00000351416:S188Y;ENSP00000332265:S188Y;ENSP00000427151:S75Y	ENSP00000332265:S188Y	S	-	2	0	ANKRD17	74245914	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.848000	0.99507	2.614000	0.88457	0.591000	0.81541	TCC		0.408	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	74027050	G	T	74027050	3	4	20	1	0	0	0	0	1	0	0	0	646	1174	41	4	7376	4	ANKRD17	4	74027050	Missense_Mutation	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	26452087	74027050	117127226	24	1339											
FRAS1	80144	hgsc.bcm.edu	37	4	79229272	79229272	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr4:79229272delG	ENST00000325942.6	+	15	2027	c.1587delG	c.(1585-1587)ttgfs	p.L529fs	FRAS1_ENST00000264895.6_Frame_Shift_Del_p.L529fs|FRAS1_ENST00000264899.6_Frame_Shift_Del_p.L529fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	529					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCACTGCTTGGCCTGCAGAG	0.562																																																0													73	79	77					4																	79229272		2133	4246	6379	SO:0001589	frameshift_variant	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1587delG	chr4.hg19:g.79229272delG	ENSP00000326330:p.Leu529fs		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Del	DEL	ENST00000325942.6	hg19	CCDS54772.1																																																																																				0.562	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			-	79229272	G	-	79229272	7	5	20	1	0	1	0	1	0	0	0	0	6044	1339	47	0	1645	0	FRAS1	4	79229272	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	5202222	79229272	111925004	25	1340											
FRAS1	80144	hgsc.bcm.edu	37	4	79387543	79387543	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr4:79387543C>T	ENST00000264895.6	+	50	7651	c.7211C>T	c.(7210-7212)tCt>tTt	p.S2404F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2404					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTCACTGTTTCTGATGGGACA	0.532																																																0													64	64	64					4																	79387543		2033	4197	6230	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7211C>T	chr4.hg19:g.79387543C>T	ENSP00000264895:p.Ser2404Phe		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	hg19	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127811	0.37533	.	.	ENSG00000138759	ENST00000264895	T	0.25250	1.81	4.86	4.01	0.46588	.	0.622123	0.16858	N	0.196636	T	0.41719	0.1171	M	0.69823	2.125	0.80722	D	1	P	0.48998	0.918	P	0.50896	0.653	T	0.48479	-0.9032	10	0.87932	D	0	.	15.6258	0.76855	0.0:0.8621:0.1379:0.0	.	2404	E9PHH6	.	F	2404	ENSP00000264895:S2404F	ENSP00000264895:S2404F	S	+	2	0	FRAS1	79606567	0.029000	0.19370	0.707000	0.30419	0.840000	0.47671	2.800000	0.47900	1.398000	0.46701	0.585000	0.79938	TCT		0.532	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	79387543	C	T	79387543	3	4	20	1	0	0	0	0	1	0	0	0	6044	913	32	2	7484	2	FRAS1	4	79387543	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	158271	79387543	111766733	26	1341											
POU4F2	5458	hgsc.bcm.edu	37	4	147560484	147560484	+	Silent	SNP	C	C	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr4:147560484C>A	ENST00000281321.3	+	1	440	c.192C>A	c.(190-192)ggC>ggA	p.G64G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	64	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					gcggcggcggcggcggcggag	0.771																																																0													3	5	5					4																	147560484		1329	2897	4226	SO:0001819	synonymous_variant	5458			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.192C>A	chr4.hg19:g.147560484C>A			B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	hg19	CCDS34074.1																																																																																				0.771	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		A	147560484	C	A	147560484	2	1	20	1	0	0	0	0	0	0	0	1	12281	755	27	4		4	POU4F2	4	147560484	Silent	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	68172941	147560484	43593792	27	1342											
TERT	7015	hgsc.bcm.edu	37	5	1258735	1258736	+	Missense_Mutation	DNP	TC	TC	CG			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr5:1258735_1258736TC>CG	ENST00000310581.5	-	13	3066_3067	c.3009_3010GA>CG	c.(3007-3012)aaGAtc>aaCGtc	p.1003_1004KI>NV	TERT_ENST00000334602.6_Missense_Mutation_p.940_941KI>NV|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1003	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	AGCAGGAGGATCTTGTAGATGT	0.574									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																							0																																										SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3009_3010delinsCG	chr5.hg19:g.1258735_1258736delinsCG	ENSP00000309572:p.K1003_I1004delinsNV		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	hg19	CCDS3861.2																																																																																				0.574	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			CG	1258736	TC	CG	1258735	3	2	20	1	0	0	0	0	1	0	0	0	15769	1435	50	3	404	3	TERT	5	1258735	Missense_Mutation	DNP	TC	TCGA-2Z-A9JQ-01A-11D-A42J-10		1258735	179656525	28	1343											
SLC45A2	51151	hgsc.bcm.edu	37	5	33984582	33984582	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr5:33984582A>G	ENST00000296589.4	-	1	253	c.107T>C	c.(106-108)aTc>aCc	p.I36T	SLC45A2_ENST00000509381.1_Missense_Mutation_p.I36T|SLC45A2_ENST00000342059.3_Missense_Mutation_p.I36T|SLC45A2_ENST00000345083.5_Missense_Mutation_p.I36T|SLC45A2_ENST00000382102.3_Missense_Mutation_p.I36T	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	36					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GCTGTGCATGATGAGTCTGCT	0.582																																					Ovarian(31;380 859 8490 22203 49048)											0													53	51	52					5																	33984582		2203	4300	6503	SO:0001583	missense	51151			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.107T>C	chr5.hg19:g.33984582A>G	ENSP00000296589:p.Ile36Thr		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	hg19	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.956505	0.53293	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.360446	0.32386	N	0.006168	D	0.94689	0.8287	M	0.82323	2.585	0.58432	D	0.999993	P;B;P	0.51653	0.947;0.427;0.766	P;P;P	0.52823	0.659;0.462;0.71	D	0.94810	0.7978	10	0.51188	T	0.08	-13.8858	15.4467	0.75235	1.0:0.0:0.0:0.0	.	36;36;36	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	T	36	ENSP00000296589:I36T;ENSP00000341014:I36T;ENSP00000371534:I36T;ENSP00000421100:I36T;ENSP00000340444:I36T	ENSP00000296589:I36T	I	-	2	0	SLC45A2	34020339	1.000000	0.71417	0.786000	0.31890	0.432000	0.31715	8.996000	0.93539	2.050000	0.60909	0.450000	0.29827	ATC		0.582	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		G	33984582	A	G	33984582	3	3	20	1	0	0	0	0	1	0	0	0	14647	333	12	3	1528	3	SLC45A2	5	33984582	Missense_Mutation	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	32725847	33984582	146930678	29	1344											
LOX	4015	hgsc.bcm.edu	37	5	121413349	121413349	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr5:121413349C>G	ENST00000231004.4	-	1	631	c.332G>C	c.(331-333)gGa>gCa	p.G111A	LOX_ENST00000513319.1_5'Flank	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	111					blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		AGCGGTGACTCCAGATGAGCC	0.721																																																0													7	9	8					5																	121413349		2060	4113	6173	SO:0001583	missense	4015				CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.332G>C	chr5.hg19:g.121413349C>G	ENSP00000231004:p.Gly111Ala		B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	hg19	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	C	0.254	-1.004655	0.02112	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.21734	1.99	4.35	3.47	0.39725	.	0.917794	0.09424	N	0.804091	T	0.13157	0.0319	N	0.19112	0.55	0.31202	N	0.699664	B	0.13145	0.007	B	0.12837	0.008	T	0.19484	-1.0304	10	0.05620	T	0.96	.	12.4631	0.55743	0.0:0.6775:0.3225:0.0	.	111	P28300	LYOX_HUMAN	A	111;71	ENSP00000231004:G111A	ENSP00000231004:G111A	G	-	2	0	LOX	121441248	0.002000	0.14202	0.020000	0.16555	0.036000	0.12997	1.657000	0.37366	0.779000	0.33543	0.455000	0.32223	GGA		0.721	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			G	121413349	C	G	121413349	3	3	20	1	0	0	0	0	1	0	0	0	8900	855	30	4	949	4	LOX	5	121413349	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	87428767	121413349	59501911	30	1345											
PCDHA2	56146	hgsc.bcm.edu	37	5	140176343	140176343	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr5:140176343C>G	ENST00000526136.1	+	1	1794	c.1794C>G	c.(1792-1794)gaC>gaG	p.D598E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D598E|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D598E	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGTGGACGCTGACTCAG	0.657																																																0													160	144	149					5																	140176343		2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1794C>G	chr5.hg19:g.140176343C>G	ENSP00000431748:p.Asp598Glu		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	hg19	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	11.04	1.520898	0.27211	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.61392	0.11;0.11;0.11	3.91	-0.181	0.13291	Cadherin (4);Cadherin-like (1);	0.000000	0.41194	U	0.000923	D	0.82572	0.5066	H	0.99261	4.49	0.27054	N	0.963715	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.73940	-0.3824	10	0.87932	D	0	.	8.5891	0.33677	0.0:0.3705:0.0:0.6295	.	598;598;598	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	E	598	ENSP00000430584:D598E;ENSP00000367372:D598E;ENSP00000431748:D598E	ENSP00000367372:D598E	D	+	3	2	PCDHA2	140156527	0.000000	0.05858	0.783000	0.31826	0.107000	0.19398	-0.793000	0.04589	-0.027000	0.13873	-1.080000	0.02220	GAC		0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		G	140176343	C	G	140176343	3	3	20	1	0	0	0	0	1	0	0	0	11526	535	19	4	1796	4	PCDHA2	5	140176343	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	18762994	140176343	40738917	31	1346											
IRF4	3662	hgsc.bcm.edu	37	6	401489	401489	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr6:401489C>T	ENST00000380956.4	+	7	937	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	271					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CACGTCCAGCCCCGAGGGCTG	0.597			T	IGH@	MM																																		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	0													61	50	54					6																	401489		2203	4300	6503	SO:0001583	missense	3662			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.811C>T	chr6.hg19:g.401489C>T	ENSP00000370343:p.Pro271Ser		Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	hg19	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095778	0.94197	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.95690	-3.78	5.76	5.76	0.90799	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.96030	0.8707	M	0.62209	1.925	0.80722	D	1	B;P;B;P	0.44429	0.389;0.645;0.088;0.835	P;P;B;P	0.53518	0.507;0.588;0.127;0.728	D	0.94968	0.8114	10	0.41790	T	0.15	-14.7588	19.9857	0.97347	0.0:1.0:0.0:0.0	.	271;301;270;271	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	S	271;300	ENSP00000370343:P271S	ENSP00000370343:P271S	P	+	1	0	IRF4	346489	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	7.440000	0.80464	2.706000	0.92434	0.655000	0.94253	CCC		0.597	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			T	401489	C	T	401489	3	4	20	1	0	0	0	0	1	0	0	0	7834	623	22	2	833	2	IRF4	6	401489	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10		401489	170713578	32	1347											
IBTK	25998	hgsc.bcm.edu	37	6	82906099	82906099	+	Silent	SNP	A	A	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr6:82906099A>T	ENST00000306270.7	-	22	3639	c.3090T>A	c.(3088-3090)tcT>tcA	p.S1030S	IBTK_ENST00000503631.1_Silent_p.S829S|IBTK_ENST00000510291.1_Silent_p.S1015S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1030					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AGCTTCCTTCAGAGTCTGATG	0.358																																																0													86	85	85					6																	82906099		2203	4300	6503	SO:0001819	synonymous_variant	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3090T>A	chr6.hg19:g.82906099A>T			Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	ENST00000306270.7	hg19	CCDS34490.1																																																																																				0.358	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		T	82906099	A	T	82906099	2	4	20	1	0	0	0	0	0	0	0	1	7478	175	7	5		5	IBTK	6	82906099	Silent	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	82504610	82906099	88208968	33	1348											
MDN1	23195	hgsc.bcm.edu	37	6	90491213	90491213	+	Silent	SNP	A	A	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr6:90491213A>G	ENST00000369393.3	-	10	1663	c.1548T>C	c.(1546-1548)gaT>gaC	p.D516D	MDN1_ENST00000428876.1_Silent_p.D516D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	516					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAACAGAACTATCACTCCAAG	0.423																																																0													139	135	136					6																	90491213		2203	4300	6503	SO:0001819	synonymous_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1548T>C	chr6.hg19:g.90491213A>G			O15019|Q5T794	Silent	SNP	ENST00000369393.3	hg19	CCDS5024.1																																																																																				0.423	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			G	90491213	A	G	90491213	2	3	20	1	0	0	0	0	0	0	0	1	9417	446	16	3		3	MDN1	6	90491213	Silent	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	7585114	90491213	80623854	34	1349											
PSMB1	5689	hgsc.bcm.edu	37	6	170862258	170862258	+	Missense_Mutation	SNP	G	G	T	rs60257797	byFrequency	TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr6:170862258G>T	ENST00000262193.6	-	1	171	c.73C>A	c.(73-75)Cct>Act	p.P25T	TBP_ENST00000540980.1_5'Flank|TBP_ENST00000392092.2_5'Flank|PSMB1_ENST00000462957.1_5'Flank|TBP_ENST00000230354.6_5'Flank	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	25					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	AGCTGCAAAGGGCCCGCGGCT	0.592																																																0													39	38	38					6																	170862258		2203	4299	6502	SO:0001583	missense	5689			D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"Proteasome (prosome, macropain) subunits"	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.73C>A	chr6.hg19:g.170862258G>T	ENSP00000262193:p.Pro25Thr		B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	hg19	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487058	0.44249	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.25085	1.82	4.37	3.5	0.40072	.	0.244443	0.41605	D	0.000845	T	0.06508	0.0167	N	0.19112	0.55	0.54753	D	0.999988	P	0.45348	0.856	B	0.38803	0.282	T	0.17561	-1.0365	10	0.35671	T	0.21	-6.038	8.6868	0.34243	0.0863:0.1526:0.761:0.0	.	25	P20618	PSB1_HUMAN	T	25;30	ENSP00000262193:P25T	ENSP00000262193:P25T	P	-	1	0	PSMB1	170704183	1.000000	0.71417	0.769000	0.31535	0.030000	0.12068	4.424000	0.59868	1.054000	0.40438	-0.253000	0.11424	CCT		0.592	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793		T	170862258	G	T	170862258	3	4	20	1	0	0	0	0	1	0	0	0	12679	1232	43	4	676	4	PSMB1	6	170862258	Missense_Mutation	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	80371045	170862258	252809	35	1350											
COL28A1	340267	hgsc.bcm.edu	37	7	7557428	7557428	+	Splice_Site	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr7:7557428C>T	ENST00000399429.3	-	7	994	c.854G>A	c.(853-855)gGg>gAg	p.G285E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	285					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGTACATACCCCTGGACCTCT	0.433																																																0													201	194	196					7																	7557428		1875	4116	5991	SO:0001630	splice_region_variant	340267			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.855+1G>A	chr7.hg19:g.7557428C>T			A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	hg19	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.496886	0.01001	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	D	0.91577	-2.87	3.8	-0.292	0.12839	.	1.902390	0.03505	U	0.218727	T	0.67306	0.2879	N	0.00729	-1.24	0.20764	N	0.999859	P	0.35468	0.503	B	0.33521	0.165	T	0.69018	-0.5256	10	0.06891	T	0.86	2.2101	3.0593	0.06195	0.3875:0.3932:0.0:0.2193	.	285	Q2UY09	COSA1_HUMAN	E	285	ENSP00000382356:G285E	ENSP00000382347:G285E	G	-	2	0	COL28A1	7523953	0.996000	0.38824	0.410000	0.26471	0.493000	0.33554	0.295000	0.19065	-0.057000	0.13199	0.655000	0.94253	GGG		0.433	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	Missense_Mutation	T	7557428	C	T	7557428	5	4	20	1	0	0	0	0	0	0	1	0	3688	637	22	2	2639	2	COL28A1	7	7557428	Splice_Site	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10		7557428	151581235	36	1351											
ZNF479	90827	hgsc.bcm.edu	37	7	57188741	57188741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr7:57188741delT	ENST00000331162.4	-	5	651	c.381delA	c.(379-381)aaafs	p.K127fs		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTTACAGCATTTTTTAAATT	0.368																																																0													90	83	85					7																	57188741		1850	4101	5951	SO:0001589	frameshift_variant	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.381delA	chr7.hg19:g.57188741delT	ENSP00000333776:p.Lys127fs			Frame_Shift_Del	DEL	ENST00000331162.4	hg19	CCDS43590.1																																																																																				0.368	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		-	57188741	T	-	57188741	7	5	20	1	0	1	0	1	0	0	0	0	17938	1490	52	0	1197	0	ZNF479	7	57188741	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JQ-01A-11D-A42J-10	49631313	57188741	101949922	37	1352											
MOSPD3	64598	hgsc.bcm.edu	37	7	100210558	100210558	+	Silent	SNP	G	G	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr7:100210558G>T	ENST00000393950.2	+	1	426	c.144G>T	c.(142-144)cgG>cgT	p.R48R	MOSPD3_ENST00000424091.2_Silent_p.R48R|MOSPD3_ENST00000223054.4_Silent_p.R48R|MOSPD3_ENST00000379527.2_Silent_p.R48R	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	48	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGGACCAGCGGAGCGGACCCC	0.697																																																0													53	61	58					7																	100210558		2203	4296	6499	SO:0001819	synonymous_variant	64598			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.144G>T	chr7.hg19:g.100210558G>T			A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	hg19	CCDS5701.1																																																																																				0.697	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		T	100210558	G	T	100210558	2	4	20	1	0	0	0	0	0	0	0	1	9719	1161	41	4		4	MOSPD3	7	100210558	Silent	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	43021817	100210558	58928105	38	1353											
CBLL1	79872	hgsc.bcm.edu	37	7	107389353	107389354	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr7:107389353_107389354delTG	ENST00000440859.3	+	2	509_510	c.42_43delTG	c.(40-45)tctggafs	p.G15fs	CBLL1_ENST00000222597.2_Frame_Shift_Del_p.G15fs|CBLL1_ENST00000415884.2_Frame_Shift_Del_p.G15fs	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	15					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CTAATAGTTCTGGATCCTTGGG	0.366																																																0																																										SO:0001589	frameshift_variant	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.42_43delTG	chr7.hg19:g.107389353_107389354delTG	ENSP00000401277:p.Gly15fs		B7ZM03|Q8TAJ4|Q9H5S6	Frame_Shift_Del	DEL	ENST00000440859.3	hg19	CCDS5747.1																																																																																				0.366	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		-	107389354	TG	-	107389353	7	5	20	1	0	1	0	1	0	0	0	0	2705	1567	55	0	48	0	CBLL1	7	107389353	Frame_Shift_Del	DEL	TG	TCGA-2Z-A9JQ-01A-11D-A42J-10	7178795	107389353	51749310	39	1354	14	2									
CBLL1	79872	hgsc.bcm.edu	37	7	107389358	107389358	+	Frame_Shift_Del	DEL	C	C	-	rs267601227		TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr7:107389358delC	ENST00000440859.3	+	2	514	c.47delC	c.(46-48)tccfs	p.S16fs	CBLL1_ENST00000222597.2_Frame_Shift_Del_p.S16fs|CBLL1_ENST00000415884.2_Frame_Shift_Del_p.S16fs	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	16					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AGTTCTGGATCCTTGGGTGGT	0.373																																																0													146	149	148					7																	107389358		2203	4300	6503	SO:0001589	frameshift_variant	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.47delC	chr7.hg19:g.107389358delC	ENSP00000401277:p.Ser16fs		B7ZM03|Q8TAJ4|Q9H5S6	Frame_Shift_Del	DEL	ENST00000440859.3	hg19	CCDS5747.1																																																																																				0.373	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		-	107389358	C	-	107389358	7	5	20	1	0	1	0	1	0	0	0	0	2705	855	30	0	53	0	CBLL1	7	107389358	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	5	107389358	51749305	40	1355	14	2									
MTUS1	57509	hgsc.bcm.edu	37	8	17503480	17503480	+	Silent	SNP	T	T	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr8:17503480T>A	ENST00000262102.6	-	15	3992	c.3768A>T	c.(3766-3768)ccA>ccT	p.P1256P	MTUS1_ENST00000400046.1_Silent_p.P328P|MTUS1_ENST00000519263.1_Silent_p.P1202P|MTUS1_ENST00000544260.1_Silent_p.P401P|MTUS1_ENST00000381869.3_Silent_p.P1202P|MTUS1_ENST00000381861.3_Silent_p.P503P|MTUS1_ENST00000297488.6_Silent_p.P422P	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1256					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CCGAATTCCTTGGTGACTGCA	0.537																																																0													61	64	63					8																	17503480		1923	4140	6063	SO:0001819	synonymous_variant	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3768A>T	chr8.hg19:g.17503480T>A			A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	hg19	CCDS43717.1																																																																																				0.537	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		A	17503480	T	A	17503480	2	1	20	1	0	0	0	0	0	0	0	1	9967	1799	63	5		5	MTUS1	8	17503480	Silent	SNP	T	TCGA-2Z-A9JQ-01A-11D-A42J-10		17503480	128860542	41	1356											
STC1	6781	hgsc.bcm.edu	37	8	23702289	23702289	+	Silent	SNP	A	A	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr8:23702289A>G	ENST00000290271.2	-	4	1021	c.738T>C	c.(736-738)agT>agC	p.S246S	STC1_ENST00000524323.1_Silent_p.S177S	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	246					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTGGTTATGCACTCTCATGGG	0.498																																																0													95	81	86					8																	23702289		2203	4300	6503	SO:0001819	synonymous_variant	6781				CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.738T>C	chr8.hg19:g.23702289A>G			B4DN22|Q71UE5	Silent	SNP	ENST00000290271.2	hg19	CCDS6043.1																																																																																				0.498	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			G	23702289	A	G	23702289	2	3	20	1	0	0	0	0	0	0	0	1	15280	156	6	3		3	STC1	8	23702289	Silent	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	6198809	23702289	122661733	42	1357											
POLR1E	64425	hgsc.bcm.edu	37	9	37500883	37500883	+	Silent	SNP	G	G	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr9:37500883G>T	ENST00000377798.4	+	10	1046	c.933G>T	c.(931-933)ctG>ctT	p.L311L	POLR1E_ENST00000377792.3_Silent_p.L373L|POLR1E_ENST00000442009.2_Silent_p.L241L	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCAAACTGCTGAAGCACTTTA	0.498																																					Ovarian(116;843 1620 18506 32459 34463)											0													138	116	123					9																	37500883		2203	4300	6503	SO:0001819	synonymous_variant	64425			AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"RNA polymerase subunits"	17631	protein-coding gene	gene with protein product	"RNA polymerase I associated factor 53"		"polymerase (RNA) I associated factor 1"	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.933G>T	chr9.hg19:g.37500883G>T			O75395|Q5JTE3	Silent	SNP	ENST00000377798.4	hg19	CCDS6611.1																																																																																				0.498	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490		T	37500883	G	T	37500883	2	4	20	1	0	0	0	0	0	0	0	1	12215	1277	45	4		4	POLR1E	9	37500883	Silent	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10		37500883	103712548	43	1358											
OBP2B	29989	hgsc.bcm.edu	37	9	136082700	136082700	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr9:136082700G>C	ENST00000372034.3	-	4	342	c.301C>G	c.(301-303)Ctg>Gtg	p.L101V	OBP2B_ENST00000372032.2_Missense_Mutation_p.P56R|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	101					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		AGCTCCTGCAGGTACATGAGC	0.547																																																0													110	83	92					9																	136082700		2203	4300	6503	SO:0001583	missense	29989			AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.301C>G	chr9.hg19:g.136082700G>C	ENSP00000361104:p.Leu101Val		Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	hg19	CCDS6961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.604|0.604	-0.827969|-0.827969	0.02734|0.02734	.|.	.|.	ENSG00000171102|ENSG00000171102	ENST00000372034|ENST00000372032	T|T	0.05025|0.08102	3.51|3.13	1.91|1.91	-3.82|-3.82	0.04281|0.04281	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	1.036800|.	0.07743|.	N|.	0.947204|.	T|T	0.02727|0.02727	0.0082|0.0082	N|N	0.03194|0.03194	-0.395|-0.395	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.15052|.	0.012|.	T|T	0.36504|0.36504	-0.9745|-0.9745	10|7	0.02654|0.87932	T|D	1|0	-15.1887|-15.1887	0.9011|0.9011	0.01274|0.01274	0.1534:0.1911:0.3106:0.3449|0.1534:0.1911:0.3106:0.3449	.|.	101|.	Q9NPH6|.	OBP2B_HUMAN|.	V|R	101|56	ENSP00000361104:L101V|ENSP00000361102:P56R	ENSP00000361104:L101V|ENSP00000361102:P56R	L|P	-|-	1|2	2|0	OBP2B|OBP2B	135072521|135072521	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.234000|-2.234000	0.01203|0.01203	-2.668000|-2.668000	0.00415|0.00415	-2.408000|-2.408000	0.00222|0.00222	CTG|CCT		0.547	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		C	136082700	G	C	136082700	3	2	20	1	0	0	0	0	1	0	0	0	10813	991	35	4	223	4	OBP2B	9	136082700	Missense_Mutation	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	98581817	136082700	5130731	44	1359											
MTPAP	55149	hgsc.bcm.edu	37	10	30615418	30615418	+	Silent	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr10:30615418C>T	ENST00000263063.4	-	5	970	c.927G>A	c.(925-927)cgG>cgA	p.R309R	MTPAP_ENST00000358107.4_Silent_p.R439R|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	309					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CGAGCGGACACCGGGCATTTA	0.443																																																0													107	115	112					10																	30615418		2203	4300	6503	SO:0001819	synonymous_variant	55149			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.927G>A	chr10.hg19:g.30615418C>T			D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000263063.4	hg19	CCDS7165.1																																																																																				0.443	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		T	30615418	C	T	30615418	2	4	20	1	0	0	0	0	0	0	0	1	9958	494	18	2		2	MTPAP	10	30615418	Silent	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10		30615418	104919329	45	1360											
SFTPD	6441	hgsc.bcm.edu	37	10	81702210	81702210	+	Frame_Shift_Del	DEL	G	G	-	rs17878336	byFrequency	TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr10:81702210delG	ENST00000372292.3	-	4	407	c.367delC	c.(367-369)ctgfs	p.L123fs		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	123	Collagen-like.		L -> V (in dbSNP:rs17878336). {ECO:0000269|PubMed:19100526, ECO:0000269|Ref.4}.		defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGCTTCCCCAGGGGACCTTCT	0.602																																																0													77	71	73					10																	81702210		2203	4300	6503	SO:0001589	frameshift_variant	6441			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.367delC	chr10.hg19:g.81702210delG	ENSP00000361366:p.Leu123fs		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Frame_Shift_Del	DEL	ENST00000372292.3	hg19	CCDS7362.1																																																																																				0.602	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			-	81702210	G	-	81702210	7	5	20	1	0	1	0	1	0	0	0	0	14199	991	35	0	780	0	SFTPD	10	81702210	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	51086792	81702210	53832537	46	1361											
ANKRD2	26287	hgsc.bcm.edu	37	10	99343384	99343384	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr10:99343384C>T	ENST00000307518.5	+	9	1252	c.985C>T	c.(985-987)Cac>Tac	p.H329Y	PI4K2A_ENST00000370649.3_5'Flank|HOGA1_ENST00000370646.4_5'Flank|ANKRD2_ENST00000455090.1_Missense_Mutation_p.H269Y|ANKRD2_ENST00000298808.5_Missense_Mutation_p.H296Y|HOGA1_ENST00000370647.4_5'Flank|ANKRD2_ENST00000370655.1_Missense_Mutation_p.H302Y|PI4K2A_ENST00000555577.1_5'Flank			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	329					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		TGATACCCGGCACGCCCTGGA	0.647																																																0													18	18	18					10																	99343384		2200	4298	6498	SO:0001583	missense	26287			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"Ankyrin repeat domain containing"	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.985C>T	chr10.hg19:g.99343384C>T	ENSP00000306163:p.His329Tyr		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	ENST00000307518.5	hg19	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437522	0.43224	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.67171	0.93;-0.25;0.88;-0.25	5.6	2.43	0.29744	.	0.449475	0.21686	N	0.070642	T	0.49813	0.1579	N	0.24115	0.695	0.23950	N	0.996373	B;B	0.27117	0.168;0.072	B;B	0.28139	0.086;0.059	T	0.46470	-0.9189	10	0.59425	D	0.04	-0.4987	8.5035	0.33173	0.5059:0.3605:0.1336:0.0	.	296;329	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	Y	329;296;302;269	ENSP00000306163:H329Y;ENSP00000298808:H296Y;ENSP00000359689:H302Y;ENSP00000403114:H269Y	ENSP00000298808:H296Y	H	+	1	0	ANKRD2	99333374	0.396000	0.25262	0.978000	0.43139	0.887000	0.51463	0.858000	0.27845	0.635000	0.30488	0.561000	0.74099	CAC		0.647	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	99343384	C	T	99343384	3	4	20	1	0	0	0	0	1	0	0	0	647	710	25	2	1019	2	ANKRD2	10	99343384	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	17641174	99343384	36191363	47	1362											
NRAP	4892	hgsc.bcm.edu	37	10	115401186	115401186	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr10:115401186C>T	ENST00000359988.3	-	13	1505	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	NRAP_ENST00000369360.3_Missense_Mutation_p.E386K|NRAP_ENST00000360478.3_Missense_Mutation_p.E386K|NRAP_ENST00000369358.4_Missense_Mutation_p.E421K	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCAACTCCTTCATAGCGGCCT	0.453																																																0													178	159	165					10																	115401186		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1261G>A	chr10.hg19:g.115401186C>T	ENSP00000353078:p.Glu421Lys			Missense_Mutation	SNP	ENST00000359988.3	hg19	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983267	0.53827	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.31510	1.49;2.55;1.49;2.37	5.49	4.57	0.56435	.	0.215254	0.47852	D	0.000220	T	0.22666	0.0547	L	0.45137	1.4	0.31944	N	0.61052	P;P;P	0.35527	0.507;0.454;0.474	B;B;B	0.35182	0.184;0.197;0.097	T	0.13953	-1.0490	10	0.06757	T	0.87	.	11.3728	0.49711	0.0:0.8029:0.1271:0.0701	.	421;386;421	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	K	421;386;421;386;150;150	ENSP00000358365:E421K;ENSP00000358367:E386K;ENSP00000353078:E421K;ENSP00000353666:E386K	ENSP00000353078:E421K	E	-	1	0	NRAP	115391176	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.648000	0.46647	1.280000	0.44463	0.561000	0.74099	GAA		0.453	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		T	115401186	C	T	115401186	3	4	20	1	0	0	0	0	1	0	0	0	10640	835	29	2	4051	2	NRAP	10	115401186	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	16057802	115401186	20133561	48	1363											
GPR123	84435	hgsc.bcm.edu	37	10	134916320	134916320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr10:134916320delA	ENST00000392607.3	+	5	811	c.375delA	c.(373-375)ccafs	p.P126fs	GPR123_ENST00000607359.1_Frame_Shift_Del_p.P846fs|GPR123_ENST00000392606.2_Frame_Shift_Del_p.P29fs	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	126					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAGACCAGCCACCGTACCCCA	0.622																																																0													64	48	53					10																	134916320		2203	4300	6503	SO:0001589	frameshift_variant	84435			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.375delA	chr10.hg19:g.134916320delA	ENSP00000376384:p.Pro126fs		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Frame_Shift_Del	DEL	ENST00000392607.3	hg19	CCDS41580.1																																																																																				0.622	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			-	134916320	A	-	134916320	7	5	20	1	0	1	0	1	0	0	0	0	6639	146	6	0	389	0	GPR123	10	134916320	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	19515134	134916320	618427	49	1364											
NAV2	89797	hgsc.bcm.edu	37	11	19901514	19901521	+	Frame_Shift_Del	DEL	CACCTCTG	CACCTCTG	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	CACCTCTG	CACCTCTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr11:19901514_19901521delCACCTCTG	ENST00000396087.3	+	5	710_717	c.611_618delCACCTCTG	c.(610-618)tcacctctgfs	p.SPL204fs	NAV2_ENST00000360655.4_Frame_Shift_Del_p.SPL140fs|NAV2_ENST00000349880.4_Frame_Shift_Del_p.SPL204fs|NAV2_ENST00000540292.1_Frame_Shift_Del_p.SPL135fs|NAV2_ENST00000396085.1_Frame_Shift_Del_p.SPL204fs|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_Frame_Shift_Del_p.SPL133fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	204	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						caCCTCTCCTCACCTCTGCCGCCCGCCG	0.654																																																0																																										SO:0001589	frameshift_variant	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.611_618delCACCTCTG	chr11.hg19:g.19901514_19901521delCACCTCTG	ENSP00000379396:p.Ser204fs		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Del	DEL	ENST00000396087.3	hg19	CCDS58126.1																																																																																				0.654	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		-	19901521	CACCTCTG	-	19901514	7	5	20	1	0	1	0	1	0	0	0	0	10186	838	29	0	708	0	NAV2	11	19901514	Frame_Shift_Del	DEL	CACCTCTG	TCGA-2Z-A9JQ-01A-11D-A42J-10		19901514	115105002	50	1365											
MAP4K2	5871	hgsc.bcm.edu	37	11	64557720	64557720	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr11:64557720C>T	ENST00000294066.2	-	29	2279	c.2188G>A	c.(2188-2190)Ggc>Agc	p.G730S	MAP4K2_ENST00000377350.3_Missense_Mutation_p.G722S	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	730	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GTGGGCTCGCCCTGCATGTTG	0.622																																																0													127	113	118					11																	64557720		2201	4297	6498	SO:0001583	missense	5871			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2188G>A	chr11.hg19:g.64557720C>T	ENSP00000294066:p.Gly730Ser		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	hg19	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409908	0.96072	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.36340	1.26;1.26	5.28	5.28	0.74379	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.76938	2.355	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65582	-0.6133	10	0.87932	D	0	.	14.4958	0.67685	0.0:1.0:0.0:0.0	.	722;730	Q86VU3;Q12851	.;M4K2_HUMAN	S	730;722	ENSP00000294066:G730S;ENSP00000366567:G722S	ENSP00000294066:G730S	G	-	1	0	MAP4K2	64314296	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	6.468000	0.73551	2.494000	0.84150	0.555000	0.69702	GGC		0.622	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		T	64557720	C	T	64557720	3	4	20	1	0	0	0	0	1	0	0	0	9262	623	22	2	290	2	MAP4K2	11	64557720	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	44656206	64557720	70448796	51	1366											
CNTN5	53942	hgsc.bcm.edu	37	11	99690335	99690335	+	Missense_Mutation	SNP	A	A	T	rs199945392		TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr11:99690335A>T	ENST00000524871.1	+	4	406	c.116A>T	c.(115-117)aAg>aTg	p.K39M	CNTN5_ENST00000527185.1_Missense_Mutation_p.K39M|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.K39M|CNTN5_ENST00000528682.1_Missense_Mutation_p.K39M	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	39					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGAATTAAGAAGAGTTCATCT	0.398																																																0													125	126	125					11																	99690335		1887	4119	6006	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.116A>T	chr11.hg19:g.99690335A>T	ENSP00000435637:p.Lys39Met		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	hg19	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654223	0.47467	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.57595	0.39;0.46;0.46;0.46	5.06	3.95	0.45737	.	0.313869	0.30547	N	0.009393	T	0.37999	0.1024	N	0.19112	0.55	0.31267	N	0.692233	P;P	0.39576	0.679;0.679	B;B	0.43916	0.436;0.319	T	0.47249	-0.9132	10	0.72032	D	0.01	.	4.34	0.11105	0.7511:0.0:0.2489:0.0	.	39;39	E9PKE8;O94779	.;CNTN5_HUMAN	M	39	ENSP00000433575:K39M;ENSP00000436185:K39M;ENSP00000435637:K39M;ENSP00000279463:K39M	ENSP00000279463:K39M	K	+	2	0	CNTN5	99195545	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.718000	0.38001	2.208000	0.71279	0.528000	0.53228	AAG		0.398	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		T	99690335	A	T	99690335	3	4	20	1	0	0	0	0	1	0	0	0	3646	72	3	5	122	5	CNTN5	11	99690335	Missense_Mutation	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	35132615	99690335	35316181	52	1367											
SLC37A4	2542	hgsc.bcm.edu	37	11	118898353	118898353	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr11:118898353A>G	ENST00000545985.1	-	6	1366	c.610T>C	c.(610-612)Tct>Cct	p.S204P	SLC37A4_ENST00000330775.7_Missense_Mutation_p.S203P|SLC37A4_ENST00000538950.1_Missense_Mutation_p.S131P|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S204P|SLC37A4_ENST00000525102.1_5'UTR	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	204					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TTGCCCTCAGAGGGCATGGGG	0.577																																																0													51	56	54					11																	118898353		2060	4197	6257	SO:0001583	missense	2542			Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"Solute carriers"	4061	protein-coding gene	gene with protein product		602671	"glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.610T>C	chr11.hg19:g.118898353A>G	ENSP00000475241:p.Ser204Pro		O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	hg19																																																																																					0.577	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		G	118898353	A	G	118898353	3	3	20	1	0	0	0	0	1	0	0	0	14606	304	11	3	773	3	SLC37A4	11	118898353	Missense_Mutation	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	19208018	118898353	16108163	53	1368											
PRDM10	56980	hgsc.bcm.edu	37	11	129795021	129795021	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr11:129795021A>G	ENST00000360871.3	-	12	1865	c.1634T>C	c.(1633-1635)tTa>tCa	p.L545S	PRDM10_ENST00000526082.1_Missense_Mutation_p.L463S|PRDM10_ENST00000423662.2_Missense_Mutation_p.L463S|PRDM10_ENST00000528746.1_Missense_Mutation_p.L519S|PRDM10_ENST00000304538.6_Missense_Mutation_p.L459S|PRDM10_ENST00000358825.5_Missense_Mutation_p.L549S	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	549					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATGGAAGCGTAAGTGCTGGTC	0.537																																																0													184	181	182					11																	129795021		2201	4297	6498	SO:0001583	missense	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1634T>C	chr11.hg19:g.129795021A>G	ENSP00000354118:p.Leu545Ser		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	hg19	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172096	0.78452	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99;2.99;2.99	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.232278	0.37178	N	0.002217	T	0.15739	0.0379	L	0.29908	0.895	0.52501	D	0.999951	P;P;P;P;P;P	0.52692	0.638;0.585;0.638;0.585;0.955;0.585	P;P;P;P;P;P	0.53102	0.61;0.475;0.61;0.475;0.718;0.475	T	0.04737	-1.0930	10	0.28530	T	0.3	-6.6276	15.7411	0.77899	1.0:0.0:0.0:0.0	.	459;545;549;463;459;463	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	S	549;459;545;463;519;463;262	ENSP00000351686:L549S;ENSP00000302669:L459S;ENSP00000354118:L545S;ENSP00000398431:L463S;ENSP00000431262:L519S;ENSP00000432237:L463S;ENSP00000435940:L262S	ENSP00000302669:L459S	L	-	2	0	PRDM10	129300231	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.910000	0.92685	2.171000	0.68590	0.533000	0.62120	TTA		0.537	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		G	129795021	A	G	129795021	3	3	20	1	0	0	0	0	1	0	0	0	12456	372	13	3	1876	3	PRDM10	11	129795021	Missense_Mutation	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	10896668	129795021	5211495	54	1369											
KRT6A	3853	hgsc.bcm.edu	37	12	52882218	52882218	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr12:52882218C>G	ENST00000330722.6	-	7	1386	c.1318G>C	c.(1318-1320)Gac>Cac	p.D440H		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	440	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGGCCAGGTCCTGCTTGGCC	0.622																																																0													101	91	95					12																	52882218		2203	4298	6501	SO:0001583	missense	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1318G>C	chr12.hg19:g.52882218C>G	ENSP00000369317:p.Asp440His		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	hg19	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.247317	0.80024	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.89681	-2.55	5.06	5.06	0.68205	Filament (1);	0.000000	0.64402	D	0.000007	D	0.97096	0.9051	H	0.98701	4.305	0.53005	D	0.999968	D	0.89917	1.0	D	0.79108	0.992	D	0.98900	1.0776	10	0.87932	D	0	.	18.799	0.92008	0.0:1.0:0.0:0.0	.	440	P02538	K2C6A_HUMAN	H	440;396	ENSP00000369317:D440H	ENSP00000369317:D440H	D	-	1	0	KRT6A	51168485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.722000	0.61958	2.501000	0.84356	0.591000	0.81541	GAC		0.622	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		G	52882218	C	G	52882218	3	3	20	1	0	0	0	0	1	0	0	0	8482	855	30	4	388	4	KRT6A	12	52882218	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10		52882218	80969677	55	1370											
KRT72	140807	hgsc.bcm.edu	37	12	52985268	52985268	+	Nonsense_Mutation	SNP	C	C	A	rs145259719	byFrequency	TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr12:52985268C>A	ENST00000537672.2	-	5	953	c.943G>T	c.(943-945)Gag>Tag	p.E315*	KRT72_ENST00000354310.4_Nonsense_Mutation_p.E315*|KRT72_ENST00000293745.2_Nonsense_Mutation_p.E315*|KRT72_ENST00000398066.3_Nonsense_Mutation_p.E127*	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	315	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TACAGGGTCTCAGCCTCGGCC	0.577																																																0													128	94	106					12																	52985268		2203	4300	6503	SO:0001587	stop_gained	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.943G>T	chr12.hg19:g.52985268C>A	ENSP00000441160:p.Glu315*		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Nonsense_Mutation	SNP	ENST00000537672.2	hg19	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865439	0.51588	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	.	.	.	4.33	4.33	0.51752	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.6339	0.62210	0.0:0.9208:0.0:0.0792	.	.	.	.	X	315;315;315;127	.	ENSP00000293745:E315X	E	-	1	0	KRT72	51271535	1.000000	0.71417	0.230000	0.23976	0.014000	0.08584	7.561000	0.82288	2.715000	0.92844	0.655000	0.94253	GAG		0.577	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		A	52985268	C	A	52985268	4	1	20	1	0	0	0	0	0	1	0	0	8487	835	29	4	612	4	KRT72	12	52985268	Nonsense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	103050	52985268	80866627	56	1371											
APPL2	55198	hgsc.bcm.edu	37	12	105582221	105582221	+	Silent	SNP	A	A	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr12:105582221A>G	ENST00000258530.3	-	17	1689	c.1464T>C	c.(1462-1464)tcT>tcC	p.S488S	APPL2_ENST00000539978.2_Silent_p.S445S|APPL2_ENST00000551662.1_Silent_p.S494S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCTGCAAAAGAGAATCTGGAA	0.423																																																0													74	74	74					12																	105582221		2203	4300	6503	SO:0001819	synonymous_variant	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1464T>C	chr12.hg19:g.105582221A>G			B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000258530.3	hg19	CCDS9101.1																																																																																				0.423	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		G	105582221	A	G	105582221	2	3	20	1	0	0	0	0	0	0	0	1	818	291	11	3		3	APPL2	12	105582221	Silent	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	52596953	105582221	28269674	57	1372											
OAS3	4940	hgsc.bcm.edu	37	12	113386980	113386982	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	CTG	CTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr12:113386980_113386982delCTG	ENST00000228928.7	+	6	1523_1525	c.1344_1346delCTG	c.(1342-1347)aactgt>aat	p.C449del	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	449	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TCCATGAGAACTGTGTTCACAAG	0.567																																																0																																										SO:0001651	inframe_deletion	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1344_1346delCTG	chr12.hg19:g.113386980_113386982delCTG	ENSP00000228928:p.Cys449del		Q2HJ14|Q9H3P5	In_Frame_Del	DEL	ENST00000228928.7	hg19	CCDS44981.1																																																																																				0.567	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			-	113386982	CTG	-	113386980	7	5	20	1	0	1	0	1	0	0	0	0	10803	564	20	0	1366	0	OAS3	12	113386980	In_Frame_Del	DEL	CTG	TCGA-2Z-A9JQ-01A-11D-A42J-10	7804759	113386980	20464915	58	1373											
PLCB2	5330	hgsc.bcm.edu	37	15	40594770	40594770	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr15:40594770T>C	ENST00000260402.3	-	4	521	c.272A>G	c.(271-273)gAt>gGt	p.D91G	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Missense_Mutation_p.D91G|PLCB2_ENST00000557821.1_Missense_Mutation_p.D91G|PLCB2_ENST00000456256.2_Missense_Mutation_p.D91G	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	91					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAAACTGTTATCAGGAAAGTC	0.572																																																0													93	98	96					15																	40594770		2035	4190	6225	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.272A>G	chr15.hg19:g.40594770T>C	ENSP00000260402:p.Asp91Gly		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	hg19	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697454	0.48202	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.45276	0.9;0.9;0.9	4.87	3.75	0.43078	.	0.342197	0.32836	N	0.005590	T	0.34483	0.0899	L	0.54323	1.7	0.41896	D	0.990392	P;B;B;B	0.44195	0.828;0.002;0.329;0.002	B;B;B;B	0.39119	0.291;0.008;0.165;0.005	T	0.10245	-1.0638	10	0.20046	T	0.44	.	10.737	0.46130	0.0:0.075:0.0:0.925	.	91;91;91;91	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	G	91	ENSP00000260402:D91G;ENSP00000411991:D91G;ENSP00000444652:D91G	ENSP00000260402:D91G	D	-	2	0	PLCB2	38382062	1.000000	0.71417	0.999000	0.59377	0.701000	0.40568	4.261000	0.58841	1.008000	0.39264	0.459000	0.35465	GAT		0.572	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			C	40594770	T	C	40594770	3	2	20	1	0	0	0	0	1	0	0	0	12030	1435	50	3	3401	3	PLCB2	15	40594770	Missense_Mutation	SNP	T	TCGA-2Z-A9JQ-01A-11D-A42J-10		40594770	61936622	59	1374											
MAP1A	4130	hgsc.bcm.edu	37	15	43818453	43818453	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr15:43818453G>T	ENST00000300231.5	+	4	5232	c.4782G>T	c.(4780-4782)aaG>aaT	p.K1594N	MAP1A_ENST00000399453.1_Missense_Mutation_p.K1594N|MAP1A_ENST00000382031.1_Missense_Mutation_p.K1832N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1594					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAAACCAAAGATGCTAGAGG	0.493																																																0													56	58	58					15																	43818453		1879	4101	5980	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4782G>T	chr15.hg19:g.43818453G>T	ENSP00000300231:p.Lys1594Asn		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	hg19	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232235	0.05983	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.64803	-0.12;-0.12;-0.12	1.46	-2.47	0.06442	.	.	.	.	.	T	0.48732	0.1516	L	0.32530	0.975	0.09310	N	1	P	0.37330	0.59	B	0.43728	0.429	T	0.42241	-0.9463	9	0.34782	T	0.22	-9.6264	3.4489	0.07491	0.5006:0.2186:0.2808:0.0	.	1594	P78559	MAP1A_HUMAN	N	1832;1594;1594	ENSP00000371462:K1832N;ENSP00000382380:K1594N;ENSP00000300231:K1594N	ENSP00000300231:K1594N	K	+	3	2	MAP1A	41605745	0.000000	0.05858	0.000000	0.03702	0.397000	0.30659	-0.481000	0.06552	-0.776000	0.04578	-0.251000	0.11542	AAG		0.493	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		T	43818453	G	T	43818453	3	4	20	1	0	0	0	0	1	0	0	0	9229	933	33	4	4784	4	MAP1A	15	43818453	Missense_Mutation	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	3223683	43818453	58712939	60	1375											
HERC1	8925	hgsc.bcm.edu	37	15	63918321	63918321	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr15:63918321C>G	ENST00000443617.2	-	71	13225	c.13138G>C	c.(13138-13140)Gac>Cac	p.D4380H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4380					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCACTGTGTCAGGCAGGCCC	0.532																																																0													36	38	38					15																	63918321		1985	4153	6138	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13138G>C	chr15.hg19:g.63918321C>G	ENSP00000390158:p.Asp4380His		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266711	0.59540	.	.	ENSG00000103657	ENST00000443617	T	0.25250	1.81	5.23	4.31	0.51392	.	0.138683	0.46442	U	0.000293	T	0.19446	0.0467	N	0.24115	0.695	0.45747	D	0.998648	B	0.32653	0.379	B	0.30782	0.12	T	0.04961	-1.0915	10	0.59425	D	0.04	.	15.57	0.76326	0.1389:0.8611:0.0:0.0	.	4380	Q15751	HERC1_HUMAN	H	4380	ENSP00000390158:D4380H	ENSP00000390158:D4380H	D	-	1	0	HERC1	61705374	0.980000	0.34600	0.198000	0.23420	0.897000	0.52465	4.826000	0.62715	1.321000	0.45227	0.491000	0.48974	GAC		0.532	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		G	63918321	C	G	63918321	3	3	20	1	0	0	0	0	1	0	0	0	7059	826	29	4	1479	4	HERC1	15	63918321	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	20099868	63918321	38613071	61	1376											
ST8SIA2	8128	hgsc.bcm.edu	37	15	92987897	92987897	+	Silent	SNP	C	C	A	rs146396658		TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr15:92987897C>A	ENST00000268164.3	+	5	817	c.580C>A	c.(580-582)Cgg>Agg	p.R194R	ST8SIA2_ENST00000539113.1_Silent_p.R173R	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	194					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R194R(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GGAGTATGCCCGGGATGTGGG	0.567																																																1	Substitution - coding silent(1)	lung(1)											65	69	67					15																	92987897		2198	4298	6496	SO:0001819	synonymous_variant	8128			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.580C>A	chr15.hg19:g.92987897C>A			Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	hg19	CCDS10372.1																																																																																				0.567	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		A	92987897	C	A	92987897	2	1	20	1	0	0	0	0	0	0	0	1	15237	643	23	4		4	ST8SIA2	15	92987897	Silent	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	29069576	92987897	9543495	62	1377											
KLHL36	79786	hgsc.bcm.edu	37	16	84690911	84690911	+	Silent	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr16:84690911C>T	ENST00000564996.1	+	3	639	c.498C>T	c.(496-498)ttC>ttT	p.F166F	KLHL36_ENST00000258157.5_Silent_p.F166F	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	166	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTGATGCCTTCATCGATGGCT	0.562																																																0													94	77	83					16																	84690911		2199	4300	6499	SO:0001819	synonymous_variant	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.498C>T	chr16.hg19:g.84690911C>T			Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	hg19	CCDS10948.1																																																																																				0.562	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			T	84690911	C	T	84690911	2	4	20	1	0	0	0	0	0	0	0	1	8391	825	29	2		2	KLHL36	16	84690911	Silent	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10		84690911	5663842	63	1378											
FANCA	2175	hgsc.bcm.edu	37	16	89809242	89809242	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr16:89809242T>A	ENST00000389301.3	-	37	3761	c.3731A>T	c.(3730-3732)aAg>aTg	p.K1244M	FANCA_ENST00000568369.1_Missense_Mutation_p.K1244M	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1244					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTTTAGCTGCTTCCTGATGTT	0.493			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0													114	100	105					16																	89809242		2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3731A>T	chr16.hg19:g.89809242T>A	ENSP00000373952:p.Lys1244Met		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	hg19	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.544860	0.27563	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.84873	-1.91	4.85	-9.7	0.00521	.	1.958180	0.02194	N	0.061614	T	0.63331	0.2502	N	0.08118	0	0.09310	N	1	B;P;P	0.35600	0.42;0.511;0.511	B;B;B	0.31751	0.096;0.135;0.135	T	0.62110	-0.6923	10	0.51188	T	0.08	4.2992	3.4872	0.07624	0.0912:0.185:0.3755:0.3483	.	221;1244;1244	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	M	1244;221	ENSP00000373952:K1244M	ENSP00000306281:K221M	K	-	2	0	FANCA	88336743	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.517000	0.02248	-1.568000	0.01670	-1.223000	0.01593	AAG		0.493	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			A	89809242	T	A	89809242	3	1	20	1	0	0	0	0	1	0	0	0	5664	1609	56	5	664	5	FANCA	16	89809242	Missense_Mutation	SNP	T	TCGA-2Z-A9JQ-01A-11D-A42J-10	5118331	89809242	545511	64	1379											
KDM6B	23135	hgsc.bcm.edu	37	17	7749761	7749761	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr17:7749761delC	ENST00000448097.2	+	7	831	c.500delC	c.(499-501)gccfs	p.A167fs	KDM6B_ENST00000254846.5_Frame_Shift_Del_p.A167fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	167					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CAGCACCGAGCCAAGGTCCTG	0.642																																																0													27	28	28					17																	7749761		2202	4300	6502	SO:0001589	frameshift_variant	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.500delC	chr17.hg19:g.7749761delC	ENSP00000412513:p.Ala167fs		C9IZ40|Q96G33	Frame_Shift_Del	DEL	ENST00000448097.2	hg19																																																																																					0.642	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		-	7749761	C	-	7749761	7	5	20	1	0	1	0	1	0	0	0	0	8140	739	26	0	514	0	KDM6B	17	7749761	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JQ-01A-11D-A42J-10		7749761	73445449	65	1380											
ALOX12B	242	hgsc.bcm.edu	37	17	7976157	7976158	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr17:7976157_7976158insG	ENST00000319144.4	-	15	2297_2298	c.2037_2038insC	c.(2035-2040)cgcaacfs	p.N680fs	ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	680	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGGCACTTGTTGCGCTGGCGGA	0.589										Multiple Myeloma(8;0.094)																																						0																																										SO:0001589	frameshift_variant	242			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.2038dupC	chr17.hg19:g.7976158_7976158dupG	ENSP00000315167:p.Asn680fs			Frame_Shift_Ins	INS	ENST00000319144.4	hg19	CCDS11129.1																																																																																				0.589	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			G	7976158	-	G	7976157	7	5	20	1	0	1	1	0	0	0	0	0	537	1812	63	0	71	0	ALOX12B	17	7976157	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JQ-01A-11D-A42J-10	226396	7976157	73219053	66	1381											
C17orf66	256957	hgsc.bcm.edu	37	17	34185488	34185488	+	Silent	SNP	G	G	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr17:34185488G>T	ENST00000311880.2	-	10	1129	c.981C>A	c.(979-981)gcC>gcA	p.A327A	C17orf66_ENST00000592980.1_Silent_p.A287A	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		327					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGATGACTGGGGCTGAGTGCA	0.582																																																0													123	83	96					17																	34185488		2203	4300	6503	SO:0001819	synonymous_variant	256957																														ENST00000311880.2:c.981C>A	chr17.hg19:g.34185488G>T			B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	hg19	CCDS11299.1																																																																																				0.582	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			T	34185488	G	T	34185488	2	4	20	1	0	0	0	0	0	0	0	1	1876	1219	43	4		4	C17orf66	17	34185488	Silent	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	26209331	34185488	47009722	67	1382											
FKBP10	60681	hgsc.bcm.edu	37	17	39975893	39975893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr17:39975893delC	ENST00000321562.4	+	6	1133	c.1029delC	c.(1027-1029)atcfs	p.I343fs	FKBP10_ENST00000544340.1_Frame_Shift_Del_p.I55fs	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	343	PPIase FKBP-type 3. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GAATTACCATCCCCCCGCACC	0.617																																																0																																										SO:0001589	frameshift_variant	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1029delC	chr17.hg19:g.39975893delC	ENSP00000317232:p.Ile343fs		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Frame_Shift_Del	DEL	ENST00000321562.4	hg19	CCDS11409.1																																																																																				0.617	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		-	39975893	C	-	39975893	7	5	20	1	0	1	0	1	0	0	0	0	5904	845	30	0	1051	0	FKBP10	17	39975893	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	5790405	39975893	41219317	68	1383											
FDXR	2232	hgsc.bcm.edu	37	17	72859031	72859031	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr17:72859031C>T	ENST00000293195.5	-	12	1462	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	FDXR_ENST00000413947.2_Missense_Mutation_p.D493N|FDXR_ENST00000581530.1_Missense_Mutation_p.D468N|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000582944.1_Missense_Mutation_p.D454N|FDXR_ENST00000583917.1_Missense_Mutation_p.D434N|FDXR_ENST00000420580.2_Missense_Mutation_p.D422N|FDXR_ENST00000442102.2_Missense_Mutation_p.D505N|FDXR_ENST00000544854.1_Missense_Mutation_p.D410N|FDXR_ENST00000455107.2_3'UTR|GRIN2C_ENST00000347612.4_5'Flank	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	462					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TCCTCGGCATCCAGCTTCTCC	0.657																																																0													42	52	49					17																	72859031		2203	4300	6503	SO:0001583	missense	2232			J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1384G>A	chr17.hg19:g.72859031C>T	ENSP00000293195:p.Asp462Asn		B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	hg19	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253053	0.59212	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000442102;ENST00000413947	T;T;T;T	0.23552	2.6;2.64;1.9;1.9	5.05	5.05	0.67936	NAD(P)-binding domain (1);	0.097389	0.64402	D	0.000001	T	0.54271	0.1848	M	0.82323	2.585	0.80722	D	1	D;D;D;D;P;P;P;D;P;D	0.62365	0.984;0.991;0.99;0.979;0.793;0.801;0.665;0.979;0.665;0.988	P;D;P;P;P;B;B;P;B;P	0.65684	0.669;0.937;0.755;0.556;0.689;0.425;0.224;0.556;0.224;0.791	T	0.59768	-0.7392	10	0.52906	T	0.07	-13.8242	17.9977	0.89189	0.0:1.0:0.0:0.0	.	422;505;493;460;410;493;462;454;462;468	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	N	422;410;468;505;493	ENSP00000414172:D422N;ENSP00000445432:D410N;ENSP00000416515:D505N;ENSP00000408595:D493N	ENSP00000293195:D468N	D	-	1	0	FDXR	70370626	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	4.096000	0.57734	2.337000	0.79520	0.407000	0.27541	GAT		0.657	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		T	72859031	C	T	72859031	3	4	20	1	0	0	0	0	1	0	0	0	5809	855	30	2	95	2	FDXR	17	72859031	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	32883138	72859031	8336179	69	1384											
UNK	85451	hgsc.bcm.edu	37	17	73818652	73818652	+	Silent	SNP	T	T	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr17:73818652T>A	ENST00000589666.1	+	14	2042	c.1932T>A	c.(1930-1932)gcT>gcA	p.A644A	UNK_ENST00000293218.3_Silent_p.A720A|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	644							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCAGGGGCTGCCGAGCTGG	0.627																																																0													57	66	63					17																	73818652		1970	4147	6117	SO:0001819	synonymous_variant	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1932T>A	chr17.hg19:g.73818652T>A				Silent	SNP	ENST00000589666.1	hg19	CCDS45778.2																																																																																				0.627	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		A	73818652	T	A	73818652	2	1	20	1	0	0	0	0	0	0	0	1	17005	1567	55	5		5	UNK	17	73818652	Silent	SNP	T	TCGA-2Z-A9JQ-01A-11D-A42J-10	959621	73818652	7376558	70	1385											
TIMP2	7077	hgsc.bcm.edu	37	17	76869985	76869985	+	Silent	SNP	C	C	A	rs146970059		TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr17:76869985C>A	ENST00000262768.7	-	2	445	c.147G>T	c.(145-147)gcG>gcT	p.A49A	TIMP2_ENST00000536189.2_5'UTR|TIMP2_ENST00000585421.1_5'UTR|TIMP2_ENST00000586057.1_5'UTR	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	49	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.			VIRAKAV -> GKESGDP (in Ref. 10). {ECO:0000305}.	aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			TCTCACTGACCGCTTTGGCCC	0.507																																																0													144	127	133					17																	76869985		2203	4300	6503	SO:0001819	synonymous_variant	7077				CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"tissue inhibitor of metalloproteinase 2"			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.147G>T	chr17.hg19:g.76869985C>A			Q16121|Q93006|Q9UDF7	Silent	SNP	ENST00000262768.7	hg19	CCDS11758.1																																																																																				0.507	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335662.1	NM_003255		A	76869985	C	A	76869985	2	1	20	1	0	0	0	0	0	0	0	1	15923	639	23	4		4	TIMP2	17	76869985	Silent	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	3051333	76869985	4325225	71	1386											
TXNDC2	84203	hgsc.bcm.edu	37	18	9886730	9886730	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr18:9886730delA	ENST00000306084.6	+	2	453	c.254delA	c.(253-255)gagfs	p.E85fs	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Frame_Shift_Del_p.E18fs|TXNDC2_ENST00000357775.5_Frame_Shift_Del_p.E18fs	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	85					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCTCACAGGAGGGCGATGAC	0.562																																																0													154	101	119					18																	9886730		2203	4300	6503	SO:0001589	frameshift_variant	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.254delA	chr18.hg19:g.9886730delA	ENSP00000304908:p.Glu85fs		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Frame_Shift_Del	DEL	ENST00000306084.6	hg19	CCDS42414.1																																																																																				0.562	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			-	9886730	A	-	9886730	7	5	20	1	0	1	0	1	0	0	0	0	16802	304	11	0	260	0	TXNDC2	18	9886730	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JQ-01A-11D-A42J-10		9886730	68190518	72	1387											
ELANE	1991	hgsc.bcm.edu	37	19	856058	856058	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr19:856058delC	ENST00000590230.1	+	6	839	c.698delC	c.(697-699)gccfs	p.A233fs	ELANE_ENST00000263621.1_Frame_Shift_Del_p.A233fs			P08246	ELNE_HUMAN	elastase, neutrophil expressed	233	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		A -> P (in SCN1). {ECO:0000269|PubMed:23463630}.		acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GATGCCTTTGCCCCGGTGGCA	0.657																																																0													86	96	93					19																	856058		2203	4300	6503	SO:0001589	frameshift_variant	1991				CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"neutrophil elastase", "leukocyte elastase", "medullasin"	130130	"elastase 2, neutrophil"	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.698delC	chr19.hg19:g.856058delC	ENSP00000466090:p.Ala233fs		P09649|Q6B0D9|Q6LDP5	Frame_Shift_Del	DEL	ENST00000590230.1	hg19	CCDS12045.1																																																																																				0.657	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		-	856058	C	-	856058	7	5	20	1	0	1	0	1	0	0	0	0	5050	739	26	0	716	0	ELANE	19	856058	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JQ-01A-11D-A42J-10		856058	58272925	73	1388											
KIAA1683	80726	hgsc.bcm.edu	37	19	18378080	18378080	+	Silent	SNP	G	G	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr19:18378080G>A	ENST00000600328.3	-	3	463	c.270C>T	c.(268-270)gcC>gcT	p.A90A	KIAA1683_ENST00000600359.3_Silent_p.A44A|KIAA1683_ENST00000392413.4_Silent_p.A90A			Q9H0B3	K1683_HUMAN	KIAA1683	90						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGTTCTTGAAGGCCTGGCTCT	0.632																																																0													81	79	80					19																	18378080		2203	4300	6503	SO:0001819	synonymous_variant	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.270C>T	chr19.hg19:g.18378080G>A			B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	hg19	CCDS32958.1																																																																																				0.632	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			A	18378080	G	A	18378080	2	1	20	1	0	0	0	0	0	0	0	1	8253	987	35	2		2	KIAA1683	19	18378080	Silent	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	17522022	18378080	40750903	74	1389											
PSG8	440533	hgsc.bcm.edu	37	19	43258514	43258514	+	Missense_Mutation	SNP	C	C	T	rs200488282	byFrequency	TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr19:43258514C>T	ENST00000306511.4	-	5	1311	c.1214G>A	c.(1213-1215)aGc>aAc	p.S405N	PSG8_ENST00000401467.2_Missense_Mutation_p.S312N|PSG8_ENST00000406636.3_Missense_Mutation_p.S283N|PSG8_ENST00000404209.4_Missense_Mutation_p.S405N|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	405	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGATTTGGAGCTTTCCTTGCC	0.468																																																0													198	211	207					19																	43258514		2203	4299	6502	SO:0001583	missense	440533			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1214G>A	chr19.hg19:g.43258514C>T	ENSP00000305005:p.Ser405Asn		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	hg19	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	3.401	-0.122166	0.06795	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	1.62	-1.25	0.09405	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09202	0.0227	L	0.41961	1.31	0.09310	N	1	B;B;B;B;B;B	0.19583	0.004;0.037;0.003;0.011;0.001;0.001	B;B;B;B;B;B	0.21360	0.018;0.034;0.012;0.023;0.005;0.008	T	0.41502	-0.9505	9	0.20519	T	0.43	.	2.8307	0.05499	0.2599:0.5561:0.0:0.1841	.	283;312;405;312;405;405	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	N	405;187;283;312;217;312;405	ENSP00000385869:S405N;ENSP00000385081:S283N;ENSP00000386090:S312N;ENSP00000305005:S405N	ENSP00000292109:S187N	S	-	2	0	PSG8	47950354	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.061000	0.01391	-0.535000	0.06307	-2.322000	0.00252	AGC		0.468	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			T	43258514	C	T	43258514	3	4	20	1	0	0	0	0	1	0	0	0	12666	797	28	2	91	2	PSG8	19	43258514	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	24880434	43258514	15870469	75	1390											
RTN2	6253	hgsc.bcm.edu	37	19	46000066	46000066	+	Silent	SNP	C	C	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr19:46000066C>A	ENST00000245923.4	-	1	253	c.18G>T	c.(16-18)ccG>ccT	p.P6P	RTN2_ENST00000344680.4_Silent_p.P6P|PPM1N_ENST00000396737.2_5'Flank|PPM1N_ENST00000324688.4_5'Flank|PPM1N_ENST00000396735.2_5'Flank|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000451287.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	6					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGGCGAAGACCGGCAGGACCT	0.741																																																0													8	10	10					19																	46000066		2184	4277	6461	SO:0001819	synonymous_variant	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.18G>T	chr19.hg19:g.46000066C>A			O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	hg19	CCDS12665.1																																																																																				0.741	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		A	46000066	C	A	46000066	2	1	20	1	0	0	0	0	0	0	0	1	13732	639	23	4		4	RTN2	19	46000066	Silent	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	2741552	46000066	13128917	76	1391											
GLTSCR1	29998	hgsc.bcm.edu	37	19	48205073	48205073	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr19:48205073A>G	ENST00000396720.3	+	15	4278	c.4084A>G	c.(4084-4086)Acg>Gcg	p.T1362A	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1362										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GATGAACGGCACGGTGGACCA	0.776																																																0													1	1	1					19																	48205073		728	2032	2760	SO:0001583	missense	29998			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.4084A>G	chr19.hg19:g.48205073A>G	ENSP00000379946:p.Thr1362Ala		A8MW01	Missense_Mutation	SNP	ENST00000396720.3	hg19	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	A	9.937	1.216338	0.22373	.	.	ENSG00000063169	ENST00000396720	T	0.48522	0.81	2.94	1.86	0.25419	.	.	.	.	.	T	0.45915	0.1366	L	0.32530	0.975	0.30752	N	0.744981	D	0.54964	0.969	P	0.53593	0.73	T	0.49661	-0.8916	9	0.87932	D	0	.	7.9097	0.29782	0.7901:0.2099:0.0:0.0	.	1362	Q9NZM4	GSCR1_HUMAN	A	1362	ENSP00000379946:T1362A	ENSP00000379946:T1362A	T	+	1	0	GLTSCR1	52896885	0.043000	0.20138	0.165000	0.22776	0.352000	0.29268	0.917000	0.28665	0.209000	0.20645	0.260000	0.18958	ACG		0.776	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		G	48205073	A	G	48205073	3	3	20	1	0	0	0	0	1	0	0	0	6476	159	6	3	4134	3	GLTSCR1	19	48205073	Missense_Mutation	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	2205007	48205073	10923910	77	1392											
NUCB1	4924	hgsc.bcm.edu	37	19	49404086	49404086	+	Silent	SNP	T	T	C			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr19:49404086T>C	ENST00000405315.4	+	2	367	c.33T>C	c.(31-33)ctT>ctC	p.L11L	NUCB1_ENST00000407032.1_Silent_p.L11L|NUCB1_ENST00000263273.5_Silent_p.L11L|TULP2_ENST00000221399.3_5'Flank|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	11						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAACCCTCCTTctgttgccgc	0.647																																																0													64	49	54					19																	49404086		2203	4300	6503	SO:0001819	synonymous_variant	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.33T>C	chr19.hg19:g.49404086T>C			B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	hg19	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	T	2.581	-0.297309	0.05532	.	.	ENSG00000104805	ENST00000424608	.	.	.	3.96	-7.43	0.01383	.	.	.	.	.	T	0.25568	0.0622	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31752	-0.9932	4	.	.	.	.	7.9811	0.30183	0.0:0.2298:0.1296:0.6406	.	.	.	.	S	11	.	.	F	+	2	0	NUCB1	54095898	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-1.333000	0.02667	-1.430000	0.01985	-0.463000	0.05309	TTC		0.647	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		C	49404086	T	C	49404086	2	2	20	1	0	0	0	0	0	0	0	1	10720	1770	62	3		3	NUCB1	19	49404086	Silent	SNP	T	TCGA-2Z-A9JQ-01A-11D-A42J-10	1199013	49404086	9724897	78	1393											
ZIM3	114026	hgsc.bcm.edu	37	19	57647015	57647015	+	Missense_Mutation	SNP	A	A	T	rs7251328	byFrequency	TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr19:57647015A>T	ENST00000269834.1	-	5	1075	c.690T>A	c.(688-690)aaT>aaA	p.N230K	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTTGTAGGCATTTCCACAGT	0.413																																																0													142	139	140					19																	57647015		2203	4300	6503	SO:0001583	missense	114026			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.690T>A	chr19.hg19:g.57647015A>T	ENSP00000269834:p.Asn230Lys		Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	hg19	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	0.129	-1.116394	0.01799	.	.	ENSG00000141946	ENST00000269834	T	0.07021	3.23	1.97	-0.339	0.12647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00845	0.0028	N	0.00014	-2.91	0.46078	P	0.0011440000000000339	B	0.12630	0.006	B	0.18871	0.023	T	0.42515	-0.9447	8	0.02654	T	1	.	0.6984	0.00903	0.1873:0.141:0.2128:0.4589	.	230	Q96PE6	ZIM3_HUMAN	K	230	ENSP00000269834:N230K	ENSP00000269834:N230K	N	-	3	2	ZIM3	62338827	0.000000	0.05858	0.293000	0.24932	0.329000	0.28539	-1.080000	0.03407	-0.562000	0.06086	-0.642000	0.03964	AAT		0.413	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			T	57647015	A	T	57647015	3	4	20	1	0	0	0	0	1	0	0	0	17690	214	8	5	732	5	ZIM3	19	57647015	Missense_Mutation	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	8242929	57647015	1481968	79	1394											
ZNF343	79175	hgsc.bcm.edu	37	20	2473416	2473416	+	Missense_Mutation	SNP	C	C	T	rs145750724		TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr20:2473416C>T	ENST00000278772.4	-	5	720	c.233G>A	c.(232-234)aGa>aAa	p.R78K	RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.R78K|ZNF343_ENST00000381253.1_Missense_Mutation_p.R78K|ZNF343_ENST00000358413.2_Missense_Mutation_p.R78K	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TGGACTCAGTCTCTTCCATTC	0.413																																																0													224	207	213					20																	2473416		2203	4300	6503	SO:0001583	missense	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.233G>A	chr20.hg19:g.2473416C>T	ENSP00000278772:p.Arg78Lys		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	hg19	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658284	0.47467	.	.	ENSG00000088876	ENST00000278772;ENST00000445484;ENST00000381253;ENST00000358413;ENST00000421216	T;T;T;T;T	0.01725	4.67;4.67;4.67;4.67;4.67	3.96	-0.545	0.11843	Krueppel-associated box (4);	.	.	.	.	T	0.01387	0.0045	L	0.39020	1.185	0.09310	N	1	P	0.42785	0.79	B	0.36335	0.222	T	0.49370	-0.8947	9	0.23891	T	0.37	.	4.6349	0.12520	0.3084:0.5313:0.0:0.1602	.	78	Q6P1L6	ZN343_HUMAN	K	78	ENSP00000278772:R78K;ENSP00000399682:R78K;ENSP00000370652:R78K;ENSP00000351188:R78K;ENSP00000416488:R78K	ENSP00000443337:R78K	R	-	2	0	ZNF343	2421416	0.000000	0.05858	0.000000	0.03702	0.923000	0.55619	-0.408000	0.07169	-0.156000	0.11079	0.585000	0.79938	AGA		0.413	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		T	2473416	C	T	2473416	3	4	20	1	0	0	0	0	1	0	0	0	17863	913	32	2	1574	2	ZNF343	20	2473416	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10		2473416	60552104	80	1395											
DHX35	60625	hgsc.bcm.edu	37	20	37653904	37653904	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr20:37653904A>G	ENST00000252011.3	+	18	1736	c.1703A>G	c.(1702-1704)cAt>cGt	p.H568R	DHX35_ENST00000373325.2_Missense_Mutation_p.H568R|DHX35_ENST00000373323.4_Missense_Mutation_p.H537R	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	568					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGTCAGGAACATTTCCTGAAT	0.413																																																0													209	210	209					20																	37653904		2203	4300	6503	SO:0001583	missense	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1703A>G	chr20.hg19:g.37653904A>G	ENSP00000252011:p.His568Arg		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	hg19	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.086830	0.36855	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T;T	0.32023	4.28;4.28;4.28;1.47	5.41	5.41	0.78517	.	0.046837	0.85682	D	0.000000	T	0.28962	0.0719	L	0.55990	1.75	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.003	T	0.11767	-1.0574	10	0.72032	D	0.01	.	9.025	0.36224	0.9159:0.0:0.0841:0.0	.	537;568	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	R	568;568;537;48;32	ENSP00000362422:H568R;ENSP00000252011:H568R;ENSP00000362420:H537R;ENSP00000397997:H32R	ENSP00000252011:H568R	H	+	2	0	DHX35	37087318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.050000	0.76620	2.045000	0.60652	0.533000	0.62120	CAT		0.413	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		G	37653904	A	G	37653904	3	3	20	1	0	0	0	0	1	0	0	0	4510	217	8	3	1773	3	DHX35	20	37653904	Missense_Mutation	SNP	A	TCGA-2Z-A9JQ-01A-11D-A42J-10	35180488	37653904	25371616	81	1396											
CDH4	1002	hgsc.bcm.edu	37	20	60508065	60508065	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr20:60508065G>A	ENST00000360469.5	+	14	2350	c.2262G>A	c.(2260-2262)atG>atA	p.M754I	CDH4_ENST00000543233.1_Missense_Mutation_p.M680I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	754					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGTTTGTCATGTGGATGAAGC	0.602																																																0													89	62	71					20																	60508065		2203	4300	6503	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2262G>A	chr20.hg19:g.60508065G>A	ENSP00000353656:p.Met754Ile		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	hg19	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972864	0.53614	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54071	0.59;0.6	4.18	3.2	0.36748	.	0.300446	0.31233	N	0.008008	T	0.40619	0.1124	L	0.47716	1.5	0.30164	N	0.801882	B	0.06786	0.001	B	0.04013	0.001	T	0.28004	-1.0057	9	.	.	.	.	8.2275	0.31577	0.2526:0.0:0.7474:0.0	.	754	P55283	CADH4_HUMAN	I	754;662;680	ENSP00000353656:M754I;ENSP00000443301:M680I	.	M	+	3	0	CDH4	59941460	1.000000	0.71417	0.986000	0.45419	0.929000	0.56500	2.612000	0.46343	2.027000	0.59764	0.563000	0.77884	ATG		0.602	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		A	60508065	G	A	60508065	3	1	20	1	0	0	0	0	1	0	0	0	3114	1377	48	2	2316	2	CDH4	20	60508065	Missense_Mutation	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	22854161	60508065	2517455	82	1397											
TPTE	7179	hgsc.bcm.edu	37	21	10959746	10959746	+	Silent	SNP	T	T	C	rs369891740		TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr21:10959746T>C	ENST00000361285.4	-	8	557	c.228A>G	c.(226-228)tcA>tcG	p.S76S	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Silent_p.S58S|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	76					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACTCATATGAAGCAACAT	0.373																																																0								T	,,	3,4403	4.2+/-10.8	0,3,2200	70	71	71		174,,228	0.2	0	21		71	0,8590		0,0,4295	no	coding-synonymous,intron,coding-synonymous	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	,,	0,3,6495	CC,CT,TT		0.0,0.0681,0.0231	,,	58/534,,76/552	10959746	3,12993	2203	4295	6498	SO:0001819	synonymous_variant	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.228A>G	chr21.hg19:g.10959746T>C			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	hg19	CCDS13560.2																																																																																				0.373	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			C	10959746	T	C	10959746	2	2	20	1	0	0	0	0	0	0	0	1	16435	1451	51	3		3	TPTE	21	10959746	Silent	SNP	T	TCGA-2Z-A9JQ-01A-11D-A42J-10		10959746	37170149	83	1398											
DSCAM	1826	hgsc.bcm.edu	37	21	41725475	41725475	+	Missense_Mutation	SNP	C	C	A	rs140655651	byFrequency	TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chr21:41725475C>A	ENST00000400454.1	-	5	1328	c.851G>T	c.(850-852)cGc>cTc	p.R284L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	284	Ig-like C2-type 3.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCCGAGGGGCGAATGTTCTC	0.542																																					Melanoma(134;970 1778 1785 21664 32388)											0													81	79	80					21																	41725475		1967	4152	6119	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.851G>T	chr21.hg19:g.41725475C>A	ENSP00000383303:p.Arg284Leu		O60468	Missense_Mutation	SNP	ENST00000400454.1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493198	0.84962	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.67523	1.59;-0.27	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.062950	0.64402	D	0.000002	T	0.57344	0.2047	L	0.34521	1.04	0.53005	D	0.999968	P	0.44946	0.846	B	0.36666	0.23	T	0.62201	-0.6904	10	0.49607	T	0.09	.	19.7967	0.96487	0.0:1.0:0.0:0.0	.	284	O60469	DSCAM_HUMAN	L	284;36	ENSP00000383303:R284L;ENSP00000385342:R36L	ENSP00000383303:R284L	R	-	2	0	DSCAM	40647345	1.000000	0.71417	0.691000	0.30163	0.995000	0.86356	4.422000	0.59854	2.744000	0.94065	0.655000	0.94253	CGC		0.542	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41725475	C	A	41725475	3	1	20	1	0	0	0	0	1	0	0	0	4770	768	27	4	5303	4	DSCAM	21	41725475	Missense_Mutation	SNP	C	TCGA-2Z-A9JQ-01A-11D-A42J-10	30765729	41725475	6404420	84	1399											
EGFL6	25975	hgsc.bcm.edu	37	X	13588004	13588004	+	Silent	SNP	G	G	T			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chrX:13588004G>T	ENST00000361306.1	+	1	281	c.24G>T	c.(22-24)gcG>gcT	p.A8A	EGFL6_ENST00000380602.3_Silent_p.A8A	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	8					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GGAGCCTTGCGCTCCCGCTGC	0.706																																																0													77	60	66					X																	13588004		2203	4300	6503	SO:0001819	synonymous_variant	25975			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.24G>T	chrX.hg19:g.13588004G>T			B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Silent	SNP	ENST00000361306.1	hg19	CCDS14155.1																																																																																				0.706	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		T	13588004	G	T	13588004	2	4	20	1	0	0	0	0	0	0	0	1	4965	1074	38	4		4	EGFL6	23	13588004	Silent	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10		13588004	141682556	85	1400											
FAM122B	159090	hgsc.bcm.edu	37	X	133906199	133906199	+	Silent	SNP	G	G	A			TCGA-2Z-A9JQ-01A-11D-A42J-10	TCGA-2Z-A9JQ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c0bed76f-49c1-44d5-b9eb-c8ef1b6c63bc	72b21503-f17e-4728-8b9c-d0b550371302	g.chrX:133906199G>A	ENST00000370790.1	-	9	1642	c.714C>T	c.(712-714)ttC>ttT	p.F238F	FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000486347.1_Silent_p.F239F|FAM122B_ENST00000298090.6_Intron|FAM122B_ENST00000343004.5_Silent_p.F257F	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	238										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CCATCAAGATGAACGAAGAGC	0.468																																																0													128	98	109					X																	133906199		2203	4300	6503	SO:0001819	synonymous_variant	159090			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.714C>T	chrX.hg19:g.133906199G>A			A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Silent	SNP	ENST00000370790.1	hg19	CCDS55497.1																																																																																				0.468	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058382.1	NM_145284		A	133906199	G	A	133906199	2	1	20	1	0	0	0	0	0	0	0	1	5422	1281	45	2		2	FAM122B	23	133906199	Silent	SNP	G	TCGA-2Z-A9JQ-01A-11D-A42J-10	120318195	133906199	21364361	86	1401											
PGD	5226	hgsc.bcm.edu	37	1	10473152	10473152	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr1:10473152T>C	ENST00000270776.8	+	8	726	c.688T>C	c.(688-690)Tca>Cca	p.S230P	PGD_ENST00000541529.1_Missense_Mutation_p.S208P|PGD_ENST00000538557.1_Missense_Mutation_p.S217P	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	230					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	AGAGCTAGACTCATTCCTGAT	0.507																																																0													87	82	83					1																	10473152		2203	4300	6503	SO:0001583	missense	5226			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.688T>C	chr1.hg19:g.10473152T>C	ENSP00000270776:p.Ser230Pro		A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	hg19	CCDS113.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.278245	0.80692	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.60797	0.16;0.16;0.16	5.06	5.06	0.68205	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	H	0.99182	4.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92004	0.5613	10	0.87932	D	0	-15.9984	15.1463	0.72653	0.0:0.0:0.0:1.0	.	208;230;230	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	P	208;176;230;217	ENSP00000442285:S208P;ENSP00000270776:S230P;ENSP00000437822:S217P	ENSP00000270776:S230P	S	+	1	0	PGD	10395739	1.000000	0.71417	0.995000	0.50966	0.903000	0.53119	6.048000	0.71046	2.043000	0.60533	0.519000	0.50382	TCA		0.507	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		C	10473152	T	C	10473152	3	2	21	1	0	0	0	0	1	0	0	0	11789	1551	54	3	718	3	PGD	1	10473152	Missense_Mutation	SNP	T	TCGA-2Z-A9JR-01A-12D-A42J-10		10473152	238777469	1	1402											
UBR4	23352	hgsc.bcm.edu	37	1	19491316	19491316	+	Silent	SNP	G	G	A			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr1:19491316G>A	ENST00000375254.3	-	32	4515	c.4488C>T	c.(4486-4488)acC>acT	p.T1496T	UBR4_ENST00000375217.2_Silent_p.T1496T|UBR4_ENST00000375226.2_Silent_p.T1496T|UBR4_ENST00000375267.2_Silent_p.T1496T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1496					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T1496T(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAATGTATGTGGTCAGTAACT	0.488																																																1	Substitution - coding silent(1)	lung(1)											115	113	114					1																	19491316		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4488C>T	chr1.hg19:g.19491316G>A			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	hg19	CCDS189.1																																																																																				0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19491316	G	A	19491316	2	1	21	1	0	0	0	0	0	0	0	1	16909	1335	47	2		2	UBR4	1	19491316	Silent	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10	9018164	19491316	229759305	2	1403											
CDKN2C	1031	hgsc.bcm.edu	37	1	51439795	51439795	+	Silent	SNP	G	G	A			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr1:51439795G>A	ENST00000262662.1	+	4	2394	c.360G>A	c.(358-360)gaG>gaA	p.E120E	CDKN2C_ENST00000371761.3_Silent_p.E120E|CDKN2C_ENST00000396148.1_Silent_p.E120E			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	120					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GGGTGGTGGAGTTCCTGGTGA	0.542			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)		Rec	yes		1	1p32	1031	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"		"O, L"	12	Whole gene deletion(11)|Unknown(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)											62	62	62					1																	51439795		2203	4300	6503	SO:0001819	synonymous_variant	1031			BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.360G>A	chr1.hg19:g.51439795G>A			Q8TB83	Silent	SNP	ENST00000262662.1	hg19	CCDS555.1																																																																																				0.542	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		A	51439795	G	A	51439795	2	1	21	1	0	0	0	0	0	0	0	1	3167	1020	36	2		2	CDKN2C	1	51439795	Silent	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10	31948479	51439795	197810826	3	1404											
MSH4	4438	hgsc.bcm.edu	37	1	76282215	76282218	+	Frame_Shift_Del	DEL	AATA	AATA	-	rs139179365		TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	AATA	AATA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr1:76282215_76282218delAATA	ENST00000263187.3	+	6	1077_1080	c.973_976delAATA	c.(973-978)aataatfs	p.NN325fs		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	325					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATTGTTAATTAATAATCAAGACTA	0.279								Mismatch excision repair (MMR)																																								0																																										SO:0001589	frameshift_variant	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.973_976delAATA	chr1.hg19:g.76282215_76282218delAATA	ENSP00000263187:p.Asn325fs		Q5T4U6|Q8NEB3|Q9UNP8	Frame_Shift_Del	DEL	ENST00000263187.3	hg19	CCDS670.1																																																																																				0.279	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		-	76282218	AATA	-	76282215	7	5	21	1	0	1	0	1	0	0	0	0	9874	362	13	0	995	0	MSH4	1	76282215	Frame_Shift_Del	DEL	AATA	TCGA-2Z-A9JR-01A-12D-A42J-10	24842420	76282215	172968406	4	1405											
RPRD2	23248	hgsc.bcm.edu	37	1	150390180	150390180	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr1:150390180C>T	ENST00000369068.4	+	2	318	c.314C>T	c.(313-315)cCt>cTt	p.P105L	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369067.3_Missense_Mutation_p.P105L|RPRD2_ENST00000401000.4_Missense_Mutation_p.P105L|RPRD2_ENST00000539519.1_Missense_Mutation_p.P105L	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	105	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GATGTACTTCCTGAAGCAGCT	0.358																																																0													138	128	131					1																	150390180		1853	4106	5959	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.314C>T	chr1.hg19:g.150390180C>T	ENSP00000358064:p.Pro105Leu		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	hg19	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026331	0.93518	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369067;ENST00000369068	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.52	5.52	0.82312	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.051483	0.85682	N	0.000000	T	0.57844	0.2081	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	0.99;0.997;1.0	D;D;D	0.87578	0.933;0.953;0.998	T	0.52071	-0.8624	10	0.39692	T	0.17	-10.8804	19.3847	0.94551	0.0:1.0:0.0:0.0	.	105;105;105	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	L	105	ENSP00000383785:P105L;ENSP00000445482:P105L;ENSP00000358063:P105L;ENSP00000358064:P105L	ENSP00000358063:P105L	P	+	2	0	RPRD2	148656804	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.530000	0.67141	2.753000	0.94483	0.650000	0.86243	CCT		0.358	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		T	150390180	C	T	150390180	3	4	21	1	0	0	0	0	1	0	0	0	13623	681	24	2	320	2	RPRD2	1	150390180	Missense_Mutation	SNP	C	TCGA-2Z-A9JR-01A-12D-A42J-10	74107965	150390180	98860441	5	1406											
NAV1	89796	hgsc.bcm.edu	37	1	201777104	201777104	+	Silent	SNP	G	G	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr1:201777104G>T	ENST00000367296.4	+	18	4092	c.3672G>T	c.(3670-3672)gcG>gcT	p.A1224A	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.A830A|NAV1_ENST00000367300.3_Silent_p.A1164A|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367302.1_Silent_p.A1177A|NAV1_ENST00000367297.4_Silent_p.A1216A|NAV1_ENST00000295624.6_Silent_p.A1221A	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1224					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCAACAAAGCGTTCAGTATAA	0.493																																																0													130	137	135					1																	201777104		2203	4300	6503	SO:0001819	synonymous_variant	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3672G>T	chr1.hg19:g.201777104G>T			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	hg19	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	g	9.718	1.158971	0.21454	.	.	ENSG00000134369	ENST00000438083	.	.	.	5.28	4.36	0.52297	.	.	.	.	.	T	0.54759	0.1878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52388	-0.8582	4	.	.	.	-33.8304	5.3519	0.16040	0.1465:0.6295:0.1462:0.0778	.	.	.	.	L	204	.	.	R	+	2	0	NAV1	200043727	0.966000	0.33281	1.000000	0.80357	0.959000	0.62525	0.174000	0.16743	1.223000	0.43536	-0.590000	0.04114	CGT		0.493	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		T	201777104	G	T	201777104	2	4	21	1	0	0	0	0	0	0	0	1	10185	1132	40	4		4	NAV1	1	201777104	Silent	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10	51386924	201777104	47473517	6	1407											
CENPF	1063	hgsc.bcm.edu	37	1	214819961	214819961	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr1:214819961A>G	ENST00000366955.3	+	13	7216	c.7048A>G	c.(7048-7050)Aca>Gca	p.T2350A		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2446	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GATAGCCAGGACAAACCAAGA	0.453																																					Colon(80;575 1284 11000 14801 43496)											0													48	49	49					1																	214819961		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7048A>G	chr1.hg19:g.214819961A>G	ENSP00000355922:p.Thr2350Ala		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	2.753	-0.259660	0.05791	.	.	ENSG00000117724	ENST00000366955	T	0.39997	1.05	4.18	-2.26	0.06867	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.797597	0.10598	N	0.656030	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.14578	0.011	T	0.23261	-1.0193	10	0.21014	T	0.42	.	5.8248	0.18548	0.5509:0.1334:0.3157:0.0	.	2446	P49454	CENPF_HUMAN	A	2350	ENSP00000355922:T2350A	ENSP00000355922:T2350A	T	+	1	0	CENPF	212886584	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.036000	0.13819	-0.437000	0.07243	-0.315000	0.08773	ACA		0.453	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214819961	A	G	214819961	3	3	21	1	0	0	0	0	1	0	0	0	3233	275	10	3	7094	3	CENPF	1	214819961	Missense_Mutation	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10	13042857	214819961	34430660	7	1408											
CDC42BPA	8476	hgsc.bcm.edu	37	1	227216669	227216669	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr1:227216669T>C	ENST00000366769.3	-	29	5307	c.4016A>G	c.(4015-4017)aAa>aGa	p.K1339R	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.K1339R|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.K1311R|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.K1352R|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.K1374R|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.K1319R|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.K1258R	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTCTTTAAATTTTCTGTGACG	0.448																																																0													74	70	71					1																	227216669		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4016A>G	chr1.hg19:g.227216669T>C	ENSP00000355731:p.Lys1339Arg			Missense_Mutation	SNP	ENST00000366769.3	hg19	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624802	0.28889	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44;3.44;3.44	5.32	5.32	0.75619	.	0.050462	0.85682	D	0.000000	T	0.06554	0.0168	N	0.21508	0.67	0.48901	D	0.999725	B;B;B;B;B;B;B;B	0.22541	0.027;0.012;0.071;0.009;0.018;0.033;0.058;0.041	B;B;B;B;B;B;B;B	0.33690	0.02;0.009;0.168;0.074;0.036;0.036;0.065;0.06	T	0.38045	-0.9679	10	0.10902	T	0.67	.	15.5875	0.76495	0.0:0.0:0.0:1.0	.	1319;1311;654;236;1258;1339;1374;541	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.;.	R	1339;1258;1339;1374;1311;654;1319;1352	ENSP00000355731:K1339R;ENSP00000355729:K1258R;ENSP00000335341:K1339R;ENSP00000355728:K1374R;ENSP00000355726:K1311R;ENSP00000443275:K1319R;ENSP00000355727:K1352R	ENSP00000335341:K1339R	K	-	2	0	CDC42BPA	225283292	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.691000	0.47010	2.153000	0.67306	0.477000	0.44152	AAA		0.448	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		C	227216669	T	C	227216669	3	2	21	1	0	0	0	0	1	0	0	0	3074	1841	64	3	1175	3	CDC42BPA	1	227216669	Missense_Mutation	SNP	T	TCGA-2Z-A9JR-01A-12D-A42J-10	12396708	227216669	22033952	8	1409											
PEX13	5194	hgsc.bcm.edu	37	2	61258902	61258902	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr2:61258902G>T	ENST00000295030.5	+	2	479	c.441G>T	c.(439-441)atG>atT	p.M147I	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	147	Targeting to peroxisomes.				cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GTATGATGATGGATGCTACCT	0.408																																																0													182	173	176					2																	61258902		2203	4300	6503	SO:0001583	missense	5194			U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"peroxisome biogenesis factor 13"			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.441G>T	chr2.hg19:g.61258902G>T	ENSP00000295030:p.Met147Ile		B2RCS1	Missense_Mutation	SNP	ENST00000295030.5	hg19	CCDS1866.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179723	0.78564	.	.	ENSG00000162928	ENST00000295030	T	0.77098	-1.07	5.85	4.96	0.65561	Peroxin 13, N-terminal (1);	0.037439	0.85682	D	0.000000	T	0.76335	0.3973	L	0.39898	1.24	0.80722	D	1	P	0.45348	0.856	P	0.46144	0.505	T	0.78352	-0.2237	10	0.56958	D	0.05	-7.6725	16.9567	0.86261	0.0:0.1277:0.8723:0.0	.	147	Q92968	PEX13_HUMAN	I	147	ENSP00000295030:M147I	ENSP00000295030:M147I	M	+	3	0	PEX13	61112406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.712000	0.84684	1.443000	0.47586	0.655000	0.94253	ATG		0.408	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618		T	61258902	G	T	61258902	3	4	21	1	0	0	0	0	1	0	0	0	11743	1348	47	4	447	4	PEX13	2	61258902	Missense_Mutation	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10		61258902	181940471	9	1410											
RPIA	22934	hgsc.bcm.edu	37	2	89036089	89036089	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr2:89036089G>A	ENST00000283646.4	+	7	689	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	212					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.G212R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GTGGCACAAGGGAATCCCCAT	0.488																																																1	Substitution - Missense(1)	skin(1)											107	112	110					2																	89036089		1967	4158	6125	SO:0001583	missense	22934			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"ribose 5-phosphate epimerase"	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.634G>A	chr2.hg19:g.89036089G>A	ENSP00000283646:p.Gly212Arg		Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	hg19	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	G	33	5.268670	0.95429	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.75938	-0.98	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.88175	0.6366	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89386	0.3685	10	0.66056	D	0.02	-10.5302	18.9716	0.92716	0.0:0.0:1.0:0.0	.	212	P49247	RPIA_HUMAN	R	212;78	ENSP00000283646:G212R	ENSP00000283646:G212R	G	+	1	0	RPIA	88817204	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.011000	0.93618	2.574000	0.86865	0.563000	0.77884	GGA		0.488	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			A	89036089	G	A	89036089	3	1	21	1	0	0	0	0	1	0	0	0	13559	1233	43	2	660	2	RPIA	2	89036089	Missense_Mutation	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10	27777187	89036089	154163284	10	1411											
ZNF35	7584	hgsc.bcm.edu	37	3	44701072	44701072	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr3:44701072T>A	ENST00000396056.2	+	4	1452	c.1217T>A	c.(1216-1218)aTt>aAt	p.I406N	ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Missense_Mutation_p.I246N|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	406					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TCACACCTTATTGTGCACCAG	0.443																																																0													98	104	102					3																	44701072		2203	4300	6503	SO:0001583	missense	7584			X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"Zinc fingers, C2H2-type"	13099	protein-coding gene	gene with protein product		194533	"zinc finger protein 35 (clone HF.10)"			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.1217T>A	chr3.hg19:g.44701072T>A	ENSP00000379368:p.Ile406Asn		B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	hg19	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443523	0.43429	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.07114	3.22;3.22	5.29	4.13	0.48395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000246	T	0.07143	0.0181	N	0.01473	-0.845	0.09310	N	1	D	0.67145	0.996	D	0.67900	0.954	T	0.24404	-1.0161	10	0.54805	T	0.06	-21.1804	7.2269	0.26020	0.134:0.0:0.1536:0.7124	.	406	P13682	ZNF35_HUMAN	N	406;246	ENSP00000379368:I406N;ENSP00000443714:I246N	ENSP00000379368:I406N	I	+	2	0	ZNF35	44676076	0.000000	0.05858	0.600000	0.28864	0.994000	0.84299	-0.001000	0.12947	2.225000	0.72522	0.459000	0.35465	ATT		0.443	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		A	44701072	T	A	44701072	3	1	21	1	0	0	0	0	1	0	0	0	17867	1493	52	5	1227	5	ZNF35	3	44701072	Missense_Mutation	SNP	T	TCGA-2Z-A9JR-01A-12D-A42J-10		44701072	153321358	11	1412											
FGF5	2250	hgsc.bcm.edu	37	4	81207513	81207513	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr4:81207513G>A	ENST00000312465.7	+	3	720	c.494G>A	c.(493-495)cGt>cAt	p.R165H	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	165					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TTCAGGGAGCGTTTTCAAGAA	0.398																																																0													133	147	142					4																	81207513		2202	4300	6502	SO:0001583	missense	2250			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.494G>A	chr4.hg19:g.81207513G>A	ENSP00000311697:p.Arg165His		B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	hg19	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269981	0.80469	.	.	ENSG00000138675	ENST00000312465	D	0.81908	-1.55	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	M	0.75777	2.31	0.80722	D	1	P	0.35844	0.524	P	0.44990	0.466	D	0.87668	0.2539	10	0.66056	D	0.02	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	165	P12034	FGF5_HUMAN	H	165	ENSP00000311697:R165H	ENSP00000311697:R165H	R	+	2	0	FGF5	81426537	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	7.810000	0.86072	2.758000	0.94735	0.650000	0.86243	CGT		0.398	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			A	81207513	G	A	81207513	3	1	21	1	0	0	0	0	1	0	0	0	5857	1145	40	1	504	1	FGF5	4	81207513	Missense_Mutation	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10		81207513	109946763	12	1413											
HERC3	8916	hgsc.bcm.edu	37	4	89583701	89583701	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr4:89583701delA	ENST00000402738.1	+	11	1505	c.1266delA	c.(1264-1266)acafs	p.T422fs	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Frame_Shift_Del_p.T422fs	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	422					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		ATGCAAATACAATCAAGTATG	0.338																																																0													92	87	89					4																	89583701		2203	4300	6503	SO:0001589	frameshift_variant	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1266delA	chr4.hg19:g.89583701delA	ENSP00000385684:p.Thr422fs		A8K1S5|Q8IXX3	Frame_Shift_Del	DEL	ENST00000402738.1	hg19	CCDS34028.1																																																																																				0.338	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		-	89583701	A	-	89583701	7	5	21	1	0	1	0	1	0	0	0	0	7061	117	5	0	1300	0	HERC3	4	89583701	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JR-01A-12D-A42J-10	8376188	89583701	101570575	13	1414											
GSTCD	79807	hgsc.bcm.edu	37	4	106746923	106746923	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr4:106746923A>G	ENST00000515279.1	+	8	1716	c.1496A>G	c.(1495-1497)aAt>aGt	p.N499S	GSTCD_ENST00000360505.5_Missense_Mutation_p.N499S|RP11-45L9.1_ENST00000506527.1_RNA|GSTCD_ENST00000394730.3_Missense_Mutation_p.N412S|RP11-45L9.1_ENST00000504955.1_RNA|GSTCD_ENST00000394728.3_Missense_Mutation_p.N499S|GSTCD_ENST00000515255.1_3'UTR|RP11-45L9.1_ENST00000509003.1_RNA			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	499						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		ATTCAAGCAAATATGGAATAT	0.279																																																0													106	107	107					4																	106746923		1800	4058	5858	SO:0001583	missense	79807			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.1496A>G	chr4.hg19:g.106746923A>G	ENSP00000422354:p.Asn499Ser		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	hg19	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225240	0.79576	.	.	ENSG00000138780	ENST00000394730;ENST00000515279;ENST00000360505;ENST00000394728	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	L	0.58925	1.835	0.58432	D	0.999998	D;P	0.89917	1.0;0.943	D;P	0.91635	0.999;0.906	T	0.64588	-0.6372	10	0.72032	D	0.01	-2.438	15.2919	0.73872	1.0:0.0:0.0:0.0	.	499;122	Q8NEC7;B7Z8J7	GSTCD_HUMAN;.	S	412;499;499;499	ENSP00000378218:N412S;ENSP00000422354:N499S;ENSP00000353695:N499S;ENSP00000378216:N499S	ENSP00000353695:N499S	N	+	2	0	GSTCD	106966372	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.602000	0.90868	2.076000	0.62316	0.528000	0.53228	AAT		0.279	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		G	106746923	A	G	106746923	3	3	21	1	0	0	0	0	1	0	0	0	6837	101	4	3	1522	3	GSTCD	4	106746923	Missense_Mutation	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10	17163222	106746923	84407353	14	1415											
OTUD4	54726	hgsc.bcm.edu	37	4	146063415	146063415	+	Silent	SNP	A	A	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr4:146063415A>T	ENST00000447906.2	-	18	1942	c.1755T>A	c.(1753-1755)ccT>ccA	p.P585P	OTUD4_ENST00000454497.2_Silent_p.P520P|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	585					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AAGGCACCGCAGGAGTTAGAT	0.498																																																0													123	130	127					4																	146063415		2203	4300	6503	SO:0001819	synonymous_variant	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1755T>A	chr4.hg19:g.146063415A>T			B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	hg19																																																																																					0.498	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		T	146063415	A	T	146063415	2	4	21	1	0	0	0	0	0	0	0	1	11316	175	7	5		5	OTUD4	4	146063415	Silent	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10	39316492	146063415	45090861	15	1416											
C5orf42	65250	hgsc.bcm.edu	37	5	37183541	37183541	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr5:37183541G>A	ENST00000508244.1	-	25	4835	c.4742C>T	c.(4741-4743)tCt>tTt	p.S1581F	C5orf42_ENST00000274258.7_Missense_Mutation_p.S462F|C5orf42_ENST00000425232.2_Missense_Mutation_p.S1581F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1581						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAGCTTTCCAGAAAAACTAGT	0.318																																																0													81	81	81					5																	37183541		2202	4300	6502	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4742C>T	chr5.hg19:g.37183541G>A	ENSP00000421690:p.Ser1581Phe		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681656	0.88542	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.44	5.44	0.79542	.	0.000000	0.46758	D	0.000271	T	0.79953	0.4535	N	0.24115	0.695	0.50467	D	0.999871	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82776	-0.0290	10	0.87932	D	0	.	19.2648	0.93982	0.0:0.0:1.0:0.0	.	1581;462	E9PH94;Q9H799	.;CE042_HUMAN	F	1581;1581;462;629;462	ENSP00000421690:S1581F;ENSP00000389014:S1581F;ENSP00000274258:S462F;ENSP00000424223:S629F	ENSP00000274258:S462F	S	-	2	0	C5orf42	37219298	1.000000	0.71417	0.991000	0.47740	0.713000	0.41058	5.236000	0.65354	2.551000	0.86045	0.655000	0.94253	TCT		0.318	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		A	37183541	G	A	37183541	3	1	21	1	0	0	0	0	1	0	0	0	2303	942	33	2	4959	2	C5orf42	5	37183541	Missense_Mutation	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10		37183541	143731719	16	1417											
PDE8B	8622	hgsc.bcm.edu	37	5	76700575	76700575	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr5:76700575G>A	ENST00000264917.5	+	12	1286	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	PDE8B_ENST00000342343.4_Missense_Mutation_p.R394K|PDE8B_ENST00000346042.3_Missense_Mutation_p.R317K|PDE8B_ENST00000333194.4_Missense_Mutation_p.R414K|PDE8B_ENST00000340978.3_Missense_Mutation_p.R367K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	414					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AAGAACAGGAGGAAAGAGTCC	0.368																																																0													95	93	94					5																	76700575		2203	4300	6503	SO:0001583	missense	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1241G>A	chr5.hg19:g.76700575G>A	ENSP00000264917:p.Arg414Lys		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	hg19	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030433	0.93575	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.72051	-0.45;-0.61;-0.45;-0.45;-0.62	4.75	4.75	0.60458	.	0.763615	0.12696	N	0.446784	T	0.79257	0.4415	M	0.79123	2.44	0.80722	D	1	P;B;P;P;P	0.48911	0.887;0.2;0.917;0.735;0.616	P;B;P;B;B	0.48189	0.57;0.098;0.547;0.381;0.211	T	0.82118	-0.0615	10	0.66056	D	0.02	.	18.136	0.89619	0.0:0.0:1.0:0.0	.	317;367;414;394;414	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	K	367;317;414;394;414	ENSP00000345446:R367K;ENSP00000330428:R317K;ENSP00000264917:R414K;ENSP00000345646:R394K;ENSP00000331336:R414K	ENSP00000264917:R414K	R	+	2	0	PDE8B	76736331	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.313000	0.96297	2.341000	0.79615	0.563000	0.77884	AGG		0.368	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		A	76700575	G	A	76700575	3	1	21	1	0	0	0	0	1	0	0	0	11656	1000	35	2	1287	2	PDE8B	5	76700575	Missense_Mutation	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10	39517034	76700575	104214685	17	1418											
APC	324	hgsc.bcm.edu	37	5	112154711	112154711	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr5:112154711G>T	ENST00000457016.1	+	10	1362	c.982G>T	c.(982-984)Gat>Tat	p.D328Y	APC_ENST00000257430.4_Missense_Mutation_p.D328Y|APC_ENST00000508376.2_Missense_Mutation_p.D328Y			P25054	APC_HUMAN	adenomatous polyposis coli	328	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCATGATAAGGATGATATGTC	0.413		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	0													204	179	187					5																	112154711		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.982G>T	chr5.hg19:g.112154711G>T	ENSP00000413133:p.Asp328Tyr		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	hg19	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610052	0.87258	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93953	-2.62;-3.32;-2.62;-2.62;-2.8	5.73	5.73	0.89815	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.96648	0.8906	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.74674	0.982;0.984	D	0.96682	0.9504	10	0.87932	D	0	-20.9336	19.9616	0.97254	0.0:0.0:1.0:0.0	.	330;328	Q4LE70;P25054	.;APC_HUMAN	Y	328;310;328;328;328	ENSP00000413133:D328Y;ENSP00000423224:D310Y;ENSP00000257430:D328Y;ENSP00000427089:D328Y;ENSP00000423828:D328Y	ENSP00000257430:D328Y	D	+	1	0	APC	112182610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.722000	0.93159	0.650000	0.86243	GAT		0.413	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		T	112154711	G	T	112154711	3	4	21	1	0	0	0	0	1	0	0	0	763	1174	41	4	1016	4	APC	5	112154711	Missense_Mutation	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10	35454136	112154711	68760549	18	1419											
CDC25C	995	hgsc.bcm.edu	37	5	137626353	137626353	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr5:137626353C>T	ENST00000323760.6	-	9	1117	c.839G>A	c.(838-840)gGg>gAg	p.G280E	CDC25C_ENST00000356505.3_Missense_Mutation_p.G250E|CDC25C_ENST00000514555.1_Missense_Mutation_p.G250E|CDC25C_ENST00000415130.2_Missense_Mutation_p.G207E|CDC25C_ENST00000513970.1_Missense_Mutation_p.G280E|CDC25C_ENST00000357274.3_Missense_Mutation_p.G237E|CDC25C_ENST00000348983.3_Missense_Mutation_p.G207E	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	280					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AATCAGGTGCCCCTGGTTAGA	0.443																																																0													91	78	83					5																	137626353		2203	4300	6503	SO:0001583	missense	995			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"Protein tyrosine phosphatases / Class III Cys-based PTPs", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1727	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 60"	157680	"cell division cycle 25C", "cell division cycle 25 homolog C (S. cerevisiae)", "cell division cycle 25 homolog C (S. pombe)"	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.839G>A	chr5.hg19:g.137626353C>T	ENSP00000321656:p.Gly280Glu		D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	hg19	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590733	0.13812	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555	T;T;T;T;T;T;T	0.20738	2.64;2.64;2.05;2.05;2.05;2.64;2.64	5.19	3.41	0.39046	Rhodanese-like (1);	0.381500	0.24332	N	0.039453	T	0.11495	0.0280	N	0.12182	0.205	0.09310	N	0.999993	B;B;B;B	0.28350	0.11;0.208;0.2;0.067	B;B;B;B	0.27796	0.046;0.063;0.083;0.021	T	0.22661	-1.0210	10	0.32370	T	0.25	-2.6834	10.4344	0.44426	0.0:0.8481:0.0:0.1519	.	297;250;207;280	G3V1P6;P30307-2;P30307-4;P30307	.;.;.;MPIP3_HUMAN	E	280;250;237;207;207;280;297;250	ENSP00000321656:G280E;ENSP00000348898:G250E;ENSP00000349821:G237E;ENSP00000345205:G207E;ENSP00000392631:G207E;ENSP00000424795:G280E;ENSP00000425470:G250E	ENSP00000321656:G280E	G	-	2	0	CDC25C	137654252	0.836000	0.29430	0.031000	0.17742	0.889000	0.51656	1.599000	0.36751	0.766000	0.33244	0.585000	0.79938	GGG		0.443	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			T	137626353	C	T	137626353	3	4	21	1	0	0	0	0	1	0	0	0	3066	623	22	2	606	2	CDC25C	5	137626353	Missense_Mutation	SNP	C	TCGA-2Z-A9JR-01A-12D-A42J-10	25471642	137626353	43288907	19	1420											
PCDHB16	57717	hgsc.bcm.edu	37	5	140563836	140563836	+	Missense_Mutation	SNP	G	G	A	rs535302272	byFrequency	TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr5:140563836G>A	ENST00000361016.2	+	1	2857	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	568	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCAGAACGGCTCCGCGCC	0.711													G|||	2	0.000399361	0.0008	0.0	5008	,	,		13663	0.0		0.0	False		,,,				2504	0.001															0													14	17	16					5																	140563836		1969	3923	5892	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1702G>A	chr5.hg19:g.140563836G>A	ENSP00000354293:p.Gly568Ser		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	hg19	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	12.66	2.005258	0.35415	.	.	ENSG00000196963	ENST00000361016	T	0.60797	0.16	4.12	2.28	0.28536	Cadherin (1);Cadherin-like (1);	1.832600	0.03875	N	0.276324	T	0.41719	0.1171	N	0.20807	0.61	0.09310	N	1	B	0.22003	0.063	B	0.17979	0.02	T	0.27123	-1.0083	10	0.45353	T	0.12	.	3.1416	0.06457	0.2646:0.0:0.4112:0.3242	.	568	Q9NRJ7	PCDBG_HUMAN	S	568	ENSP00000354293:G568S	ENSP00000354293:G568S	G	+	1	0	PCDHB16	140544020	0.000000	0.05858	0.984000	0.44739	0.978000	0.69477	0.941000	0.29005	0.212000	0.20703	0.479000	0.44913	GGC		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		A	140563836	G	A	140563836	3	1	21	1	0	0	0	0	1	0	0	0	11543	1116	39	1	1704	1	PCDHB16	5	140563836	Missense_Mutation	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10	2937483	140563836	40351424	20	1421											
ANKS1A	23294	hgsc.bcm.edu	37	6	34950966	34950966	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr6:34950966C>A	ENST00000360359.3	+	6	1023	c.885C>A	c.(883-885)agC>agA	p.S295R	ANKS1A_ENST00000535627.1_Missense_Mutation_p.S295R	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	295					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCAAAAGAGCCAGCAAATAG	0.478																																																0													165	166	166					6																	34950966		2203	4300	6503	SO:0001583	missense	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.885C>A	chr6.hg19:g.34950966C>A	ENSP00000353518:p.Ser295Arg		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	hg19	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252437	0.39797	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;T	0.61392	1.02;0.11	5.66	4.61	0.57282	Ankyrin repeat-containing domain (2);	0.000000	0.56097	D	0.000021	T	0.67599	0.2910	M	0.66378	2.025	0.42555	D	0.993121	D;D	0.71674	0.984;0.998	P;D	0.75484	0.642;0.986	T	0.70392	-0.4884	10	0.72032	D	0.01	-21.6177	13.7604	0.62961	0.0:0.9166:0.0:0.0834	.	295;295	B4DQW8;Q92625	.;ANS1A_HUMAN	R	295	ENSP00000353518:S295R;ENSP00000438752:S295R	ENSP00000353518:S295R	S	+	3	2	ANKS1A	35058944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.009000	0.29886	2.656000	0.90262	0.655000	0.94253	AGC		0.478	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		A	34950966	C	A	34950966	3	1	21	1	0	0	0	0	1	0	0	0	688	738	26	4	907	4	ANKS1A	6	34950966	Missense_Mutation	SNP	C	TCGA-2Z-A9JR-01A-12D-A42J-10		34950966	136164101	21	1422											
IGF2R	3482	hgsc.bcm.edu	37	6	160461724	160461724	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr6:160461724G>C	ENST00000356956.1	+	11	1596	c.1448G>C	c.(1447-1449)cGc>cCc	p.R483P		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	483					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GGGAAGAAGCGCTATGACCTG	0.557																																																0													143	125	131					6																	160461724		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1448G>C	chr6.hg19:g.160461724G>C	ENSP00000349437:p.Arg483Pro		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208615	0.58343	.	.	ENSG00000197081	ENST00000356956	T	0.02280	4.36	4.79	3.91	0.45181	Mannose-6-phosphate receptor, binding (1);	0.156802	0.47093	D	0.000244	T	0.05273	0.0140	M	0.73598	2.24	0.43874	D	0.996481	D	0.89917	1.0	D	0.75020	0.985	T	0.29731	-1.0002	10	0.36615	T	0.2	-13.4021	9.8517	0.41061	0.1604:0.0:0.8396:0.0	.	483	P11717	MPRI_HUMAN	P	483	ENSP00000349437:R483P	ENSP00000349437:R483P	R	+	2	0	IGF2R	160381714	0.937000	0.31787	0.893000	0.35052	0.604000	0.37047	1.559000	0.36320	2.210000	0.71456	0.655000	0.94253	CGC		0.557	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		C	160461724	G	C	160461724	3	2	21	1	0	0	0	0	1	0	0	0	7578	1087	38	4	1490	4	IGF2R	6	160461724	Missense_Mutation	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10	125510758	160461724	10653343	22	1423											
CCDC146	57639	hgsc.bcm.edu	37	7	76883839	76883844	+	In_Frame_Del	DEL	ATCATC	ATCATC	-			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	ATCATC	ATCATC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr7:76883839_76883844delATCATC	ENST00000285871.4	+	5	593_598	c.466_471delATCATC	c.(466-471)atcatcdel	p.II156del	CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	156										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGAAGAAAAAATCATCATAGTAAAAG	0.286																																																0																																										SO:0001651	inframe_deletion	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.466_471delATCATC	chr7.hg19:g.76883839_76883844delATCATC	ENSP00000285871:p.Ile156_Ile157del		A8K8X6|Q9P223	In_Frame_Del	DEL	ENST00000285871.4	hg19	CCDS34671.1																																																																																				0.286	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		-	76883844	ATCATC	-	76883839	7	5	21	1	0	1	0	1	0	0	0	0	2782	101	4	0	480	0	CCDC146	7	76883839	In_Frame_Del	DEL	ATCATC	TCGA-2Z-A9JR-01A-12D-A42J-10		76883839	82254824	23	1424											
MLL5	55904	hgsc.bcm.edu	37	7	104742528	104742541	+	Frame_Shift_Del	DEL	AATACTGTACTTAC	AATACTGTACTTAC	-			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	AATACTGTACTTAC	AATACTGTACTTAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr7:104742528_104742541delAATACTGTACTTAC	ENST00000311117.3	+	17	2628_2641	c.2083_2096delAATACTGTACTTAC	c.(2083-2097)aatactgtacttacafs	p.NTVLT695fs	KMT2E_ENST00000334877.4_Frame_Shift_Del_p.NTVLT695fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.NTVLT695fs|CTB-152G17.6_ENST00000607968.1_RNA	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	695					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TGATATTGAAAATACTGTACTTACAATAGAACCA	0.383																																																0																																										SO:0001589	frameshift_variant	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2083_2096delAATACTGTACTTAC	chr7.hg19:g.104742528_104742541delAATACTGTACTTAC	ENSP00000312379:p.Asn695fs		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Del	DEL	ENST00000311117.3	hg19	CCDS34723.1																																																																																				0.383	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			-	104742541	AATACTGTACTTAC	-	104742528	7	5	21	1	0	1	0	1	0	0	0	0	9626	14	1	0	2141	0	MLL5	7	104742528	Frame_Shift_Del	DEL	AATACTGTACTTAC	TCGA-2Z-A9JR-01A-12D-A42J-10	27858689	104742528	54396135	24	1425											
KCNH2	3757	hgsc.bcm.edu	37	7	150655488	150655488	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr7:150655488C>A	ENST00000262186.5	-	4	976	c.575G>T	c.(574-576)gGg>gTg	p.G192V	KCNH2_ENST00000392968.2_Missense_Mutation_p.G96V|KCNH2_ENST00000430723.3_Missense_Mutation_p.G192V|KCNH2_ENST00000330883.4_5'Flank	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	192					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CACCAcggcccccggggcgcc	0.761																																					GBM(137;110 1844 13671 20123 45161)											0													1	2	1					7																	150655488		1310	2720	4030	SO:0001583	missense	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.575G>T	chr7.hg19:g.150655488C>A	ENSP00000262186:p.Gly192Val		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	hg19	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723869	0.30593	.	.	ENSG00000055118	ENST00000392968;ENST00000262186;ENST00000430723	D;D;D	0.99167	-4.82;-5.03;-5.51	3.64	3.64	0.41730	.	0.496899	0.15878	N	0.240203	D	0.97949	0.9325	N	0.19112	0.55	0.58432	D	0.999999	D;D;P	0.69078	0.997;0.982;0.613	D;P;B	0.63597	0.916;0.682;0.186	D	0.97044	0.9759	10	0.54805	T	0.06	.	11.0164	0.47691	0.0:1.0:0.0:0.0	.	96;192;192	C4PFH9;G5E9I0;Q12809	.;.;KCNH2_HUMAN	V	96;192;192	ENSP00000376695:G96V;ENSP00000262186:G192V;ENSP00000387657:G192V	ENSP00000262186:G192V	G	-	2	0	KCNH2	150286421	0.981000	0.34729	0.992000	0.48379	0.619000	0.37552	1.898000	0.39809	2.040000	0.60383	0.455000	0.32223	GGG		0.761	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		A	150655488	C	A	150655488	3	1	21	1	0	0	0	0	1	0	0	0	8034	623	22	4	3333	4	KCNH2	7	150655488	Missense_Mutation	SNP	C	TCGA-2Z-A9JR-01A-12D-A42J-10	45912960	150655488	8483175	25	1426											
VCPIP1	80124	hgsc.bcm.edu	37	8	67577722	67577722	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr8:67577722delA	ENST00000310421.4	-	1	1730	c.1472delT	c.(1471-1473)ttgfs	p.L491fs	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	491					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CAGGTTATACAATTTCCCTCC	0.413																																					NSCLC(179;265 2915 6144 43644)											0													140	147	144					8																	67577722		2203	4300	6503	SO:0001589	frameshift_variant	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1472delT	chr8.hg19:g.67577722delA	ENSP00000309031:p.Leu491fs		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Frame_Shift_Del	DEL	ENST00000310421.4	hg19	CCDS6192.1																																																																																				0.413	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			-	67577722	A	-	67577722	7	5	21	1	0	1	0	1	0	0	0	0	17146	131	5	0	2208	0	VCPIP1	8	67577722	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JR-01A-12D-A42J-10		67577722	78786300	26	1427											
MATN2	4147	hgsc.bcm.edu	37	8	99015912	99015912	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr8:99015912A>T	ENST00000520016.1	+	7	1352	c.1228A>T	c.(1228-1230)Aaa>Taa	p.K410*	MATN2_ENST00000521689.1_Nonsense_Mutation_p.K410*|MATN2_ENST00000524308.1_Nonsense_Mutation_p.K369*|MATN2_ENST00000522025.2_Nonsense_Mutation_p.K126*|MATN2_ENST00000254898.5_Nonsense_Mutation_p.K410*			O00339	MATN2_HUMAN	matrilin 2	410	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGCACTGAACAAACCGGGCTG	0.602																																																0													88	95	93					8																	99015912		2147	4263	6410	SO:0001587	stop_gained	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1228A>T	chr8.hg19:g.99015912A>T	ENSP00000430487:p.Lys410*		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Nonsense_Mutation	SNP	ENST00000520016.1	hg19	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.92|13.92	2.380389|2.380389	0.42207|0.42207	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016;ENST00000522270|ENST00000518154;ENST00000521041	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.373442|.	0.26086|.	N|.	0.026440|.	.|T	.|0.62429	.|0.2427	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70561	.|-0.4838	.|3	0.02654|.	T|.	1|.	-23.8411|-23.8411	12.026|12.026	0.53371|0.53371	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	410;410;369;369;126;410;114|192;164	.|.	ENSP00000254898:K410X|.	K|Q	+|+	1|2	0|0	MATN2|MATN2	99085088|99085088	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.465000|0.465000	0.32709|0.32709	5.458000|5.458000	0.66679|0.66679	2.111000|2.111000	0.64477|0.64477	0.379000|0.379000	0.24179|0.24179	AAA|CAA		0.602	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			T	99015912	A	T	99015912	4	4	21	1	0	0	0	0	0	1	0	0	9336	131	5	5	1254	5	MATN2	8	99015912	Nonsense_Mutation	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10	31438190	99015912	47348110	27	1428											
TG	7038	hgsc.bcm.edu	37	8	133895243	133895243	+	Splice_Site	SNP	T	T	C			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr8:133895243T>C	ENST00000220616.4	+	8	1114	c.1074T>C	c.(1072-1074)tgT>tgC	p.C358C	TG_ENST00000377869.1_Splice_Site_p.C358C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	358	Thyroglobulin type-1 4. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CGCCATCTTGTGGTGGGTTTC	0.592																																																0													24	24	24					8																	133895243		2203	4300	6503	SO:0001630	splice_region_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1075+1T>C	chr8.hg19:g.133895243T>C			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	hg19	CCDS34944.1																																																																																				0.592	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Silent	C	133895243	T	C	133895243	5	2	21	1	0	0	0	0	0	0	1	0	15818	1710	59	3	1104	3	TG	8	133895243	Splice_Site	SNP	T	TCGA-2Z-A9JR-01A-12D-A42J-10	34879331	133895243	12468779	28	1429											
VPS13A	23230	hgsc.bcm.edu	37	9	79862227	79862227	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr9:79862227G>T	ENST00000360280.3	+	20	2213	c.1953G>T	c.(1951-1953)ttG>ttT	p.L651F	VPS13A_ENST00000376634.4_Missense_Mutation_p.L651F|VPS13A_ENST00000357409.5_Missense_Mutation_p.L651F|VPS13A_ENST00000376636.3_Missense_Mutation_p.L651F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	651					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAATTAATTTGAAGGCTTCAT	0.294																																																0													80	89	86					9																	79862227		2202	4287	6489	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1953G>T	chr9.hg19:g.79862227G>T	ENSP00000353422:p.Leu651Phe		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246346	0.59103	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.52	4.61	0.57282	.	0.384693	0.22519	N	0.058988	T	0.66944	0.2841	L	0.61036	1.89	0.80722	D	1	P;P;D;D	0.55800	0.891;0.954;0.973;0.973	P;P;P;P	0.61533	0.603;0.721;0.89;0.89	T	0.67573	-0.5636	10	0.54805	T	0.06	.	7.5233	0.27641	0.1579:0.1492:0.6929:0.0	.	651;651;651;651	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	651	ENSP00000365821:L651F;ENSP00000365823:L651F;ENSP00000353422:L651F;ENSP00000349985:L651F	ENSP00000349985:L651F	L	+	3	2	VPS13A	79052047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.532000	0.23067	1.428000	0.47296	0.563000	0.77884	TTG		0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		T	79862227	G	T	79862227	3	4	21	1	0	0	0	0	1	0	0	0	17194	1281	45	4	2031	4	VPS13A	9	79862227	Missense_Mutation	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10		79862227	61351204	29	1430											
DAB2IP	153090	hgsc.bcm.edu	37	9	124544633	124544633	+	Silent	SNP	T	T	C			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr9:124544633T>C	ENST00000408936.3	+	16	3608	c.3426T>C	c.(3424-3426)gaT>gaC	p.D1142D	DAB2IP_ENST00000309989.1_Silent_p.D1018D|DAB2IP_ENST00000259371.2_Silent_p.D1114D			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1142					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTCGTTGGATGCCGCCAATG	0.592																																																0													133	118	123					9																	124544633		2203	4300	6503	SO:0001819	synonymous_variant	153090			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.3426T>C	chr9.hg19:g.124544633T>C			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	hg19																																																																																					0.592	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		C	124544633	T	C	124544633	2	2	21	1	0	0	0	0	0	0	0	1	4221	1461	51	3		3	DAB2IP	9	124544633	Silent	SNP	T	TCGA-2Z-A9JR-01A-12D-A42J-10	44682406	124544633	16668798	30	1431											
ANKRD30A	91074	hgsc.bcm.edu	37	10	37442571	37442573	+	In_Frame_Del	DEL	AAT	AAT	-	rs376853184		TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr10:37442571_37442573delAAT	ENST00000602533.1	+	13	1710_1712	c.1611_1613delAAT	c.(1609-1614)aaaata>aaa	p.I538del	ANKRD30A_ENST00000361713.1_In_Frame_Del_p.I538del|ANKRD30A_ENST00000374660.1_In_Frame_Del_p.I538del			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	594					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATAGATAAAATAAATGGAAAA	0.32																																																0																																										SO:0001651	inframe_deletion	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1611_1613delAAT	chr10.hg19:g.37442571_37442573delAAT	ENSP00000473551:p.Ile538del		Q5W025	In_Frame_Del	DEL	ENST00000602533.1	hg19																																																																																					0.32	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		-	37442573	AAT	-	37442571	7	5	21	1	0	1	0	1	0	0	0	0	658	11	1	0	1661	0	ANKRD30A	10	37442571	In_Frame_Del	DEL	AAT	TCGA-2Z-A9JR-01A-12D-A42J-10		37442571	98092176	31	1432											
ANKRD30A	91074	hgsc.bcm.edu	37	10	37478466	37478468	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr10:37478466_37478468delAAT	ENST00000602533.1	+	25	2424_2426	c.2325_2327delAAT	c.(2323-2328)aaaata>aaa	p.I776del	ANKRD30A_ENST00000361713.1_In_Frame_Del_p.I776del|ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000374660.1_In_Frame_Del_p.I895del			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	832					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATAGATAAAATAAATGGAAAA	0.305																																																0																																										SO:0001651	inframe_deletion	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2325_2327delAAT	chr10.hg19:g.37478466_37478468delAAT	ENSP00000473551:p.Ile776del		Q5W025	In_Frame_Del	DEL	ENST00000602533.1	hg19																																																																																					0.305	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		-	37478468	AAT	-	37478466	7	5	21	1	0	1	0	1	0	0	0	0	658	11	1	0	2423	0	ANKRD30A	10	37478466	In_Frame_Del	DEL	AAT	TCGA-2Z-A9JR-01A-12D-A42J-10	35895	37478466	98056281	32	1433											
DNAJB12	54788	hgsc.bcm.edu	37	10	74095644	74095644	+	Missense_Mutation	SNP	A	A	T	rs368163344		TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr10:74095644A>T	ENST00000444643.2	-	8	1384	c.1052T>A	c.(1051-1053)aTg>aAg	p.M351K	DNAJB12_ENST00000461919.1_Missense_Mutation_p.M146K|DNAJB12_ENST00000394903.2_Missense_Mutation_p.M385K|DNAJB12_ENST00000338820.3_Missense_Mutation_p.M385K			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	351						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						TCTGTGGTACATATCTGTGTC	0.597																																																0													149	120	130					10																	74095644		2203	4300	6503	SO:0001583	missense	54788			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"Heat shock proteins / DNAJ (HSP40)"	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.1052T>A	chr10.hg19:g.74095644A>T	ENSP00000403313:p.Met351Lys		B7Z7I3|Q9H6H0	Missense_Mutation	SNP	ENST00000444643.2	hg19		.	.	.	.	.	.	.	.	.	.	A	22.4	4.283930	0.80803	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.38560	1.13;1.13;1.13	5.82	5.82	0.92795	Domain of unknown function DUF1977, DnaJ-like (1);	0.052948	0.85682	D	0.000000	T	0.35008	0.0917	N	0.14661	0.345	0.54753	D	0.999988	P;P	0.36249	0.49;0.545	B;B	0.41646	0.247;0.362	T	0.35574	-0.9783	10	0.87932	D	0	-12.4345	16.17	0.81801	1.0:0.0:0.0:0.0	.	351;351	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	K	385;385;351	ENSP00000345575:M385K;ENSP00000378363:M385K;ENSP00000403313:M351K	ENSP00000345575:M385K	M	-	2	0	DNAJB12	73765650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.224000	0.72417	0.459000	0.35465	ATG		0.597	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2			T	74095644	A	T	74095644	3	4	21	1	0	0	0	0	1	0	0	0	4619	217	8	5	79	5	DNAJB12	10	74095644	Missense_Mutation	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10	36617178	74095644	61439103	33	1434											
C10orf76	79591	hgsc.bcm.edu	37	10	103717456	103717456	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr10:103717456delT	ENST00000370033.4	-	21	1648	c.1529delA	c.(1528-1530)aatfs	p.N510fs		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	510						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TACAGTCTCATTTGACATAAG	0.299																																																0													82	75	77					10																	103717456		1817	4080	5897	SO:0001589	frameshift_variant	79591			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1529delA	chr10.hg19:g.103717456delT	ENSP00000359050:p.Asn510fs		Q2TB87|Q9H8Z9	Frame_Shift_Del	DEL	ENST00000370033.4	hg19	CCDS41563.1																																																																																				0.299	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		-	103717456	T	-	103717456	7	5	21	1	0	1	0	1	0	0	0	0	1618	1493	52	0	564	0	C10orf76	10	103717456	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JR-01A-12D-A42J-10	29621812	103717456	31817291	34	1435											
KRTAP5-4	387267	hgsc.bcm.edu	37	11	1643025	1643025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr11:1643025delC	ENST00000399682.1	-	1	343	c.299delG	c.(298-300)ggcfs	p.G100fs		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCACAGCCCCCCTTGGA	0.682																																																0													6	12	10					11																	1643025		640	1507	2147	SO:0001589	frameshift_variant	387267			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.299delG	chr11.hg19:g.1643025delC	ENSP00000382590:p.Gly100fs			Frame_Shift_Del	DEL	ENST00000399682.1	hg19																																																																																					0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		-	1643025	C	-	1643025	7	5	21	1	0	1	0	1	0	0	0	0	8565	739	26	0	391	0	KRTAP5-4	11	1643025	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JR-01A-12D-A42J-10		1643025	133363491	35	1436											
STIM1	6786	hgsc.bcm.edu	37	11	4095775	4095788	+	Frame_Shift_Del	DEL	AAGGTCCATCTGGA	AAGGTCCATCTGGA	-	rs199510481|rs200324686		TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	AAGGTCCATCTGGA	AAGGTCCATCTGGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr11:4095775_4095788delAAGGTCCATCTGGA	ENST00000300737.4	+	7	1404_1417	c.835_848delAAGGTCCATCTGGA	c.(835-849)aaggtccatctggaafs	p.KVHLE279fs	STIM1_ENST00000533977.1_Frame_Shift_Del_p.KVHLE106fs|STIM1_ENST00000527651.1_Frame_Shift_Del_p.KVHLE279fs	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	279	Glu-rich.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGAGGTGGAGAAGGTCCATCTGGAAAAGAAGCTG	0.607																																																0																																										SO:0001589	frameshift_variant	6786			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"Sterile alpha motif (SAM) domain containing"	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.835_848delAAGGTCCATCTGGA	chr11.hg19:g.4095775_4095788delAAGGTCCATCTGGA	ENSP00000300737:p.Lys279fs		E9PQJ4|Q8N382	Frame_Shift_Del	DEL	ENST00000300737.4	hg19	CCDS7749.1																																																																																				0.607	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		-	4095788	AAGGTCCATCTGGA	-	4095775	7	5	21	1	0	1	0	1	0	0	0	0	15288	247	9	0	861	0	STIM1	11	4095775	Frame_Shift_Del	DEL	AAGGTCCATCTGGA	TCGA-2Z-A9JR-01A-12D-A42J-10	2452750	4095775	130910741	36	1437											
RAG2	5897	hgsc.bcm.edu	37	11	36615488	36615488	+	Silent	SNP	A	A	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr11:36615488A>T	ENST00000311485.3	-	2	392	c.231T>A	c.(229-231)acT>acA	p.T77T	C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	77			T -> N (in CHIDG; reduced recombination activity). {ECO:0000269|PubMed:18463379}.		B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGAATGTGCAAGTGGCTGGGT	0.423									Familial Hemophagocytic Lymphohistiocytosis																																							0													131	137	135					11																	36615488		2202	4298	6500	SO:0001819	synonymous_variant	5897	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.231T>A	chr11.hg19:g.36615488A>T			A8K9E9|Q8TBL4	Silent	SNP	ENST00000311485.3	hg19	CCDS7903.1																																																																																				0.423	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		T	36615488	A	T	36615488	2	4	21	1	0	0	0	0	0	0	0	1	13011	59	3	5		5	RAG2	11	36615488	Silent	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10	32519713	36615488	98391028	37	1438											
ASRGL1	80150	hgsc.bcm.edu	37	11	62156671	62156671	+	Silent	SNP	A	A	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr11:62156671A>T	ENST00000415229.2	+	5	773	c.558A>T	c.(556-558)acA>acT	p.T186T	ASRGL1_ENST00000301776.5_Silent_p.T186T|ASRGL1_ENST00000535727.1_Silent_p.T58T|CTD-2531D15.5_ENST00000526045.1_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	186					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CAACCTCCACAGGCGGTATCG	0.542																																																0													128	120	123					11																	62156671		2202	4299	6501	SO:0001819	synonymous_variant	80150				CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"asparaginase-like 1 protein"	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.558A>T	chr11.hg19:g.62156671A>T			B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Silent	SNP	ENST00000415229.2	hg19	CCDS8019.1																																																																																				0.542	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		T	62156671	A	T	62156671	2	4	21	1	0	0	0	0	0	0	0	1	1060	175	7	5		5	ASRGL1	11	62156671	Silent	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10	25541183	62156671	72849845	38	1439											
PHLDB1	23187	hgsc.bcm.edu	37	11	118526375	118526375	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr11:118526375A>T	ENST00000361417.2	+	22	4346	c.3935A>T	c.(3934-3936)tAc>tTc	p.Y1312F	PHLDB1_ENST00000524713.1_Missense_Mutation_p.Y455F|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Missense_Mutation_p.Y363F|PHLDB1_ENST00000356063.5_Missense_Mutation_p.Y1265F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1312	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GAAGTGTACTACGACCACCTG	0.607																																																0													111	94	99					11																	118526375		2200	4295	6495	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3935A>T	chr11.hg19:g.118526375A>T	ENSP00000354498:p.Tyr1312Phe		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	hg19	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.918880	0.92249	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000541457;ENST00000527898;ENST00000524713	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.79	5.79	0.91817	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	L	0.42581	1.335	0.80722	D	1	B;D;B;B	0.71674	0.392;0.998;0.33;0.382	P;D;P;P	0.87578	0.47;0.998;0.687;0.598	T	0.81182	-0.1049	10	0.62326	D	0.03	-10.3043	16.1354	0.81481	1.0:0.0:0.0:0.0	.	676;1071;1265;1312	B0YJ65;Q5W9G0;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	F	1312;1086;676;1265;47;363;455	ENSP00000354498:Y1312F;ENSP00000348359:Y1265F;ENSP00000435388:Y363F;ENSP00000434905:Y455F	ENSP00000348359:Y1265F	Y	+	2	0	PHLDB1	118031585	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.842000	0.92136	2.207000	0.71202	0.533000	0.62120	TAC		0.607	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		T	118526375	A	T	118526375	3	4	21	1	0	0	0	0	1	0	0	0	11853	391	14	5	4013	5	PHLDB1	11	118526375	Missense_Mutation	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10	56369704	118526375	16480141	39	1440											
H1FNT	341567	hgsc.bcm.edu	37	12	48723566	48723566	+	Silent	SNP	G	G	A			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr12:48723566G>A	ENST00000335017.1	+	1	804	c.492G>A	c.(490-492)gcG>gcA	p.A164A		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	164	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						TTCGCAAGGCGGCCAGGAAGG	0.726																																																0													16	16	16					12																	48723566		2173	4250	6423	SO:0001819	synonymous_variant	341567			AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.492G>A	chr12.hg19:g.48723566G>A			Q147U8|Q5GKZ5|Q7Z694	Silent	SNP	ENST00000335017.1	hg19	CCDS8762.1																																																																																				0.726	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		A	48723566	G	A	48723566	2	1	21	1	0	0	0	0	0	0	0	1	6923	1103	39	1		1	H1FNT	12	48723566	Silent	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10		48723566	85128329	40	1441											
GABPB1	2553	hgsc.bcm.edu	37	15	50593523	50593523	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr15:50593523C>G	ENST00000220429.8	-	5	682	c.514G>C	c.(514-516)Gac>Cac	p.D172H	GABPB1_ENST00000396464.3_Missense_Mutation_p.D172H|GABPB1_ENST00000543881.1_Missense_Mutation_p.D96H|GABPB1_ENST00000380877.3_Missense_Mutation_p.D172H|GABPB1_ENST00000359031.4_Missense_Mutation_p.D172H|GABPB1_ENST00000429662.2_Missense_Mutation_p.D172H|GABPB1_ENST00000560825.1_Missense_Mutation_p.D172H			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	172					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						GTCACAGTGTCAGGACTCTCT	0.418																																																0													261	219	233					15																	50593523		2196	4295	6491	SO:0001583	missense	2553			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"Ankyrin repeat domain containing"	4074	protein-coding gene	gene with protein product		600610	"GA binding protein transcription factor, beta subunit 2"	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.514G>C	chr15.hg19:g.50593523C>G	ENSP00000220429:p.Asp172His		A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	hg19	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113480	0.77210	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T;T	0.72167	-0.63;-0.28;0.66;-0.3;-0.3;-0.3	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	L	0.29908	0.895	0.58432	D	0.999997	D;D;D;D;D	0.76494	0.999;0.979;0.987;0.999;0.994	P;P;P;D;P	0.80764	0.908;0.865;0.775;0.994;0.896	T	0.75252	-0.3383	10	0.36615	T	0.2	-11.8081	20.024	0.97514	0.0:1.0:0.0:0.0	.	172;172;172;172;172	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	H	172;172;96;172;172;172	ENSP00000220429:D172H;ENSP00000370259:D172H;ENSP00000442500:D96H;ENSP00000379728:D172H;ENSP00000395771:D172H;ENSP00000351923:D172H	ENSP00000220429:D172H	D	-	1	0	GABPB1	48380815	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	5.062000	0.64326	2.809000	0.96659	0.655000	0.94253	GAC		0.418	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			G	50593523	C	G	50593523	3	3	21	1	0	0	0	0	1	0	0	0	6160	826	29	4	741	4	GABPB1	15	50593523	Missense_Mutation	SNP	C	TCGA-2Z-A9JR-01A-12D-A42J-10		50593523	51937869	41	1442											
KIAA0101	9768	hgsc.bcm.edu	37	15	64668943	64668943	+	Splice_Site	SNP	T	T	A			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr15:64668943T>A	ENST00000300035.4	-	3	427	c.289A>T	c.(289-291)Aaa>Taa	p.K97*	KIAA0101_ENST00000380258.2_Intron|CTD-2116N17.1_ENST00000558783.1_5'Flank|KIAA0101_ENST00000559519.1_Splice_Site_p.K70*|KIAA0101_ENST00000558008.1_Splice_Site_p.N97Y	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	97					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						AAAACTTACTTTCTCTTTGCT	0.423																																																0													36	38	37					15																	64668943		2202	4300	6502	SO:0001630	splice_region_variant	9768			D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.290+1A>T	chr15.hg19:g.64668943T>A			A6NNU5|A8K3Y3|G9G694|G9G696	Nonsense_Mutation	SNP	ENST00000300035.4	hg19	CCDS10193.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479203	0.84747	.	.	ENSG00000166803	ENST00000300035	.	.	.	5.81	5.81	0.92471	.	0.048857	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3444	15.1475	0.72667	0.0:0.0:0.0:1.0	.	.	.	.	X	97	.	ENSP00000300035:K97X	K	-	1	0	KIAA0101	62455996	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.006000	0.76329	2.222000	0.72286	0.482000	0.46254	AAA		0.423	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256603.1	NM_014736	Nonsense_Mutation	A	64668943	T	A	64668943	5	1	21	1	0	0	0	0	0	0	1	0	8157	1855	64	5	79	5	KIAA0101	15	64668943	Splice_Site	SNP	T	TCGA-2Z-A9JR-01A-12D-A42J-10	14075420	64668943	37862449	42	1443											
ABCA3	21	hgsc.bcm.edu	37	16	2329051	2329051	+	Silent	SNP	G	G	A	rs367951064		TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr16:2329051G>A	ENST00000301732.5	-	29	5140	c.4440C>T	c.(4438-4440)taC>taT	p.Y1480Y	ABCA3_ENST00000382381.3_Silent_p.Y1422Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1480	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGAGCCGAGCGTACATGACCA	0.657																																																0													61	63	62					16																	2329051		2198	4299	6497	SO:0001819	synonymous_variant	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4440C>T	chr16.hg19:g.2329051G>A			B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	hg19	CCDS10466.1																																																																																				0.657	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		A	2329051	G	A	2329051	2	1	21	1	0	0	0	0	0	0	0	1	33	1140	40	1		1	ABCA3	16	2329051	Silent	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10		2329051	88025702	43	1444											
SRCAP	10847	hgsc.bcm.edu	37	16	30732250	30732250	+	Silent	SNP	C	C	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr16:30732250C>T	ENST00000262518.4	+	20	3589	c.3204C>T	c.(3202-3204)ggC>ggT	p.G1068G	SRCAP_ENST00000395059.2_Silent_p.G1068G|SRCAP_ENST00000344771.4_Silent_p.G1068G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1068	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCTCCTGGCCCTGTCCTCT	0.612																																																0													57	54	55					16																	30732250		2197	4300	6497	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3204C>T	chr16.hg19:g.30732250C>T			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	hg19	CCDS10689.2																																																																																				0.612	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30732250	C	T	30732250	2	4	21	1	0	0	0	0	0	0	0	1	15140	726	26	2		2	SRCAP	16	30732250	Silent	SNP	C	TCGA-2Z-A9JR-01A-12D-A42J-10	28403199	30732250	59622503	44	1445											
NFAT5	10725	hgsc.bcm.edu	37	16	69724916	69724916	+	Silent	SNP	A	A	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr16:69724916A>T	ENST00000354436.2	+	11	2112	c.1794A>T	c.(1792-1794)ccA>ccT	p.P598P	NFAT5_ENST00000432919.1_Silent_p.P616P|NFAT5_ENST00000566899.1_Silent_p.P522P|NFAT5_ENST00000567239.1_Silent_p.P615P|NFAT5_ENST00000349945.1_Silent_p.P522P|NFAT5_ENST00000393742.2_Silent_p.P522P	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	598					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						CACTCATACCAAGCAGTATGA	0.348																																																0													108	107	107					16																	69724916		2198	4298	6496	SO:0001819	synonymous_variant	10725			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.1794A>T	chr16.hg19:g.69724916A>T			A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	hg19	CCDS10881.1																																																																																				0.348	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		T	69724916	A	T	69724916	2	4	21	1	0	0	0	0	0	0	0	1	10362	117	5	5		5	NFAT5	16	69724916	Silent	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10	38992666	69724916	20629837	45	1446											
KRT25	147183	hgsc.bcm.edu	37	17	38907279	38907279	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr17:38907279G>T	ENST00000312150.4	-	5	944	c.884C>A	c.(883-885)gCc>gAc	p.A295D		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTCATTCCGGGCTGAGGTTGT	0.463																																																0													104	101	102					17																	38907279		2203	4300	6503	SO:0001583	missense	147183			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.884C>A	chr17.hg19:g.38907279G>T	ENSP00000310573:p.Ala295Asp			Missense_Mutation	SNP	ENST00000312150.4	hg19	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348552	0.82132	.	.	ENSG00000204897	ENST00000312150	D	0.90004	-2.6	5.84	5.84	0.93424	Filament (1);	0.000000	0.64402	D	0.000007	D	0.93259	0.7852	M	0.89287	3.02	0.36483	D	0.867994	P	0.51147	0.942	P	0.57620	0.824	D	0.95013	0.8153	9	.	.	.	.	8.1242	0.30988	0.0781:0.0:0.7228:0.1991	.	295	Q7Z3Z0	K1C25_HUMAN	D	295	ENSP00000310573:A295D	.	A	-	2	0	KRT25	36160805	0.072000	0.21174	0.500000	0.27589	0.980000	0.70556	1.074000	0.30703	2.758000	0.94735	0.655000	0.94253	GCC		0.463	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		T	38907279	G	T	38907279	3	4	21	1	0	0	0	0	1	0	0	0	8464	1203	42	4	484	4	KRT25	17	38907279	Missense_Mutation	SNP	G	TCGA-2Z-A9JR-01A-12D-A42J-10		38907279	42287931	46	1447											
KCNH6	81033	hgsc.bcm.edu	37	17	61607776	61607776	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr17:61607776A>G	ENST00000583023.1	+	4	559	c.548A>G	c.(547-549)cAg>cGg	p.Q183R	KCNH6_ENST00000314672.5_Missense_Mutation_p.Q183R|KCNH6_ENST00000580652.1_Missense_Mutation_p.Q183R|KCNH6_ENST00000581784.1_Missense_Mutation_p.Q183R|KCNH6_ENST00000456941.2_Missense_Mutation_p.Q183R	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	183					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CAGATCCCACAGTTCACGCTC	0.607																																																0													199	145	163					17																	61607776		2203	4300	6503	SO:0001583	missense	81033			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.548A>G	chr17.hg19:g.61607776A>G	ENSP00000463533:p.Gln183Arg		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	hg19	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487431	0.26686	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.92805	-3.11;-3.11	4.69	3.61	0.41365	.	0.181186	0.37761	N	0.001951	D	0.92782	0.7705	L	0.42245	1.32	0.46874	D	0.999236	D;B;B;D;D	0.69078	0.969;0.188;0.002;0.997;0.987	P;B;B;D;P	0.66196	0.805;0.062;0.012;0.942;0.886	D	0.91773	0.5429	10	0.56958	D	0.05	.	10.127	0.42656	0.9209:0.0:0.0791:0.0	.	60;183;183;183;183	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	R	183	ENSP00000318212:Q183R;ENSP00000396900:Q183R	ENSP00000318212:Q183R	Q	+	2	0	KCNH6	58961508	1.000000	0.71417	0.999000	0.59377	0.811000	0.45836	4.897000	0.63231	0.832000	0.34804	0.379000	0.24179	CAG		0.607	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		G	61607776	A	G	61607776	3	3	21	1	0	0	0	0	1	0	0	0	8038	188	7	3	562	3	KCNH6	17	61607776	Missense_Mutation	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10	22700497	61607776	19587434	47	1448											
ATP5H	10476	hgsc.bcm.edu	37	17	73038343	73038343	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr17:73038343delG	ENST00000301587.4	-	3	199	c.152delC	c.(151-153)gctfs	p.A51fs	KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_Frame_Shift_Del_p.A51fs|RN7SL573P_ENST00000485340.2_RNA|KCTD2_ENST00000584767.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	51					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2	all_lung(278;0.226)					CCAGTCGATAGCTGGTGGATT	0.458																																																0													73	61	65					17																	73038343		2203	4300	6503	SO:0001589	frameshift_variant	10476			AF087135	CCDS11712.1, CCDS32727.1	17q25	2014-01-24	2010-06-11		ENSG00000167863	ENSG00000167863		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	845	protein-coding gene	gene with protein product			"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d"			11042152	Standard	NM_006356		Approved	ATPQ, ATP5JD	uc002jmn.1	O75947	OTTHUMG00000179219	ENST00000301587.4:c.152delC	chr17.hg19:g.73038343delG	ENSP00000301587:p.Ala51fs		B2R5L6|Q9H3J4	Frame_Shift_Del	DEL	ENST00000301587.4	hg19	CCDS11712.1																																																																																				0.458	ATP5H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445318.1	NM_006356		-	73038343	G	-	73038343	7	5	21	1	0	1	0	1	0	0	0	0	1156	971	34	0	349	0	ATP5H	17	73038343	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JR-01A-12D-A42J-10	11430567	73038343	8156867	48	1449											
SAP30BP	29115	hgsc.bcm.edu	37	17	73700857	73700857	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr17:73700857T>G	ENST00000584667.1	+	9	880	c.623T>G	c.(622-624)aTg>aGg	p.M208R	SAP30BP_ENST00000355423.3_Missense_Mutation_p.M192R	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAAATTGAGATGGACAAATTG	0.512																																																0													120	111	114					17																	73700857		2203	4300	6503	SO:0001583	missense	29115			AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.623T>G	chr17.hg19:g.73700857T>G	ENSP00000462116:p.Met208Arg			Missense_Mutation	SNP	ENST00000584667.1	hg19	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447631	0.84101	.	.	ENSG00000161526	ENST00000355423;ENST00000293208	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	L	0.56199	1.76	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.70227	0.952;0.968	T	0.67518	-0.5650	9	0.13108	T	0.6	-29.2385	15.8909	0.79296	0.0:0.0:0.0:1.0	.	192;208	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	R	208;192	.	ENSP00000293208:M192R	M	+	2	0	SAP30BP	71212452	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.092000	0.76930	2.146000	0.66826	0.533000	0.62120	ATG		0.512	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		G	73700857	T	G	73700857	3	3	21	1	0	0	0	0	1	0	0	0	13840	1464	51	5	657	5	SAP30BP	17	73700857	Missense_Mutation	SNP	T	TCGA-2Z-A9JR-01A-12D-A42J-10	662514	73700857	7494353	49	1450											
APC2	10297	hgsc.bcm.edu	37	19	1465652	1465652	+	Frame_Shift_Del	DEL	G	G	-	rs61757708		TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr19:1465652delG	ENST00000535453.1	+	14	4065	c.2352delG	c.(2350-2352)ccgfs	p.P784fs	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Frame_Shift_Del_p.P784fs|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Frame_Shift_Del_p.P510fs			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGATGCACCGTCATCCCTGG	0.706																																																0													8	11	10					19																	1465652		2061	4181	6242	SO:0001589	frameshift_variant	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.2352delG	chr19.hg19:g.1465652delG	ENSP00000442954:p.Pro784fs		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Frame_Shift_Del	DEL	ENST00000535453.1	hg19	CCDS12068.1																																																																																				0.706	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		-	1465652	G	-	1465652	7	5	21	1	0	1	0	1	0	0	0	0	764	1132	40	0	2406	0	APC2	19	1465652	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JR-01A-12D-A42J-10		1465652	57663331	50	1451											
ZNF91	7644	hgsc.bcm.edu	37	19	23545348	23545348	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr19:23545348A>G	ENST00000300619.7	-	4	638	c.433T>C	c.(433-435)Tgt>Cgt	p.C145R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.C113R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	145					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GTTGTGAGACACTGGTTAAGT	0.323																																																0													80	85	83					19																	23545348		2159	4277	6436	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.433T>C	chr19.hg19:g.23545348A>G	ENSP00000300619:p.Cys145Arg		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	hg19	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.778055	0.00634	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05717	3.43;3.4	0.428	0.428	0.16499	.	.	.	.	.	T	0.15652	0.0377	M	0.75264	2.295	0.09310	N	1	B;D	0.54964	0.04;0.969	B;P	0.59643	0.034;0.861	T	0.18493	-1.0335	8	0.21014	T	0.42	.	.	.	.	.	113;145	Q05481-2;Q05481	.;ZNF91_HUMAN	R	145;113	ENSP00000300619:C145R;ENSP00000380272:C113R	ENSP00000300619:C145R	C	-	1	0	ZNF91	23337188	0.005000	0.15991	0.003000	0.11579	0.118000	0.20060	0.756000	0.26419	0.368000	0.24481	0.147000	0.16070	TGT		0.323	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		G	23545348	A	G	23545348	3	3	21	1	0	0	0	0	1	0	0	0	18205	159	6	3	3146	3	ZNF91	19	23545348	Missense_Mutation	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10	22079696	23545348	35583635	51	1452											
PPFIA3	8541	hgsc.bcm.edu	37	19	49631270	49631271	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr19:49631270_49631271GC>TT	ENST00000334186.4	+	2	489_490	c.140_141GC>TT	c.(139-141)cGC>cTT	p.R47L	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R47L	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	47					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GAGACGCTGCGCGAGGCACAGG	0.743																																																0																																										SO:0001583	missense	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	Exception_encountered	chr19.hg19:g.49631270_49631271delinsTT	ENSP00000335614:p.Arg47Leu		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation|Silent	SNP	ENST00000334186.4	hg19	CCDS12758.1																																																																																				0.743	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		TT	49631271	GC	TT	49631270	3	4	21	1	0	0	0	0	1	0	0	0	12313	1087	38	4	142	4	PPFIA3	19	49631270	Missense_Mutation	DNP	GC	TCGA-2Z-A9JR-01A-12D-A42J-10	26085922	49631270	9497713	52	1453											
CTSA	5476	hgsc.bcm.edu	37	20	44520635	44520635	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr20:44520635A>T	ENST00000372459.2	+	2	468	c.275A>T	c.(274-276)gAt>gTt	p.D92V	NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000191018.5_Missense_Mutation_p.D92V|CTSA_ENST00000354880.5_Missense_Mutation_p.D110V|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372484.3_Missense_Mutation_p.D110V			P10619	PPGB_HUMAN	cathepsin A	92					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGCTCACTAGATGGGCTCCTC	0.602											OREG0025986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													38	43	41					20																	44520635		2203	4300	6503	SO:0001583	missense	5476			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"Cathepsins"	9251	protein-coding gene	gene with protein product	"carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase"	613111	"protective protein for beta-galactosidase (galactosialidosis)"	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.275A>T	chr20.hg19:g.44520635A>T	ENSP00000361537:p.Asp92Val	924	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	hg19	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.931780	0.92389	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02	5.51	5.51	0.81932	.	0.086182	0.85682	D	0.000000	D	0.93383	0.7890	L	0.59436	1.845	0.80722	D	1	D;P;P	0.54601	0.967;0.744;0.744	P;P;P	0.57548	0.823;0.687;0.592	D	0.91572	0.5272	10	0.20046	T	0.44	.	15.2903	0.73862	1.0:0.0:0.0:0.0	.	109;92;109	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	V	110;110;92;92;92	ENSP00000346952:D110V;ENSP00000361562:D110V;ENSP00000191018:D92V;ENSP00000408533:D92V;ENSP00000361537:D92V	ENSP00000191018:D92V	D	+	2	0	CTSA	43954042	1.000000	0.71417	0.729000	0.30791	0.899000	0.52679	5.173000	0.65010	2.088000	0.63022	0.454000	0.30748	GAT		0.602	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		T	44520635	A	T	44520635	3	4	21	1	0	0	0	0	1	0	0	0	4031	333	12	5	339	5	CTSA	20	44520635	Missense_Mutation	SNP	A	TCGA-2Z-A9JR-01A-12D-A42J-10		44520635	18504885	53	1454											
KCNQ2	3785	hgsc.bcm.edu	37	20	62044846	62044846	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JR-01A-12D-A42J-10	TCGA-2Z-A9JR-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9a5edc5e-790b-41c7-b1c1-49106b297a3d	dea33a63-ced9-4e0a-a451-ffb60520dc94	g.chr20:62044846C>T	ENST00000359125.2	-	15	1894	c.1720G>A	c.(1720-1722)Ggc>Agc	p.G574S	KCNQ2_ENST00000354587.3_Missense_Mutation_p.G546S|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G574S|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G556S|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G546S|KCNQ2_ENST00000344462.4_Missense_Mutation_p.G543S|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G546S	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	574					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.G574S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCCAGGTGGCCGGCTGAGTAC	0.627																																																1	Substitution - Missense(1)	prostate(1)											98	85	89					20																	62044846		2203	4300	6503	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1720G>A	chr20.hg19:g.62044846C>T	ENSP00000352035:p.Gly574Ser		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	hg19	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	c	35	5.507931	0.96386	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99923	-8.01;-8.01;-8.01;-8.01;-8.01;-8.01;-8.01;-8.01;-8.01;-8.01	4.99	4.99	0.66335	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.138723	0.49916	D	0.000125	D	0.99924	0.9965	M	0.87547	2.89	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95748	0.8789	10	0.62326	D	0.03	-37.6648	18.2551	0.90017	0.0:1.0:0.0:0.0	.	546;556;543;574	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	S	556;574;544;546;574;543;546;534;546;546	ENSP00000349789:G556S;ENSP00000352035:G574S;ENSP00000359246:G544S;ENSP00000346601:G546S;ENSP00000352718:G574S;ENSP00000399612:G543S;ENSP00000353668:G546S;ENSP00000339611:G534S;ENSP00000359244:G546S;ENSP00000359242:G546S	ENSP00000339611:G534S	G	-	1	0	KCNQ2	61515290	1.000000	0.71417	0.937000	0.37676	0.905000	0.53344	7.660000	0.83776	2.323000	0.78572	0.556000	0.70494	GGC		0.627	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		T	62044846	C	T	62044846	3	4	21	1	0	0	0	0	1	0	0	0	8085	652	23	1	910	1	KCNQ2	20	62044846	Missense_Mutation	SNP	C	TCGA-2Z-A9JR-01A-12D-A42J-10	17524211	62044846	980674	54	1455											
MACF1	23499	hgsc.bcm.edu	37	1	39550024	39550024	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr1:39550024G>C	ENST00000372915.3	+	1	221	c.134G>C	c.(133-135)tGg>tCg	p.W45S	MACF1_ENST00000317713.7_Missense_Mutation_p.W45S|MACF1_ENST00000484793.1_Missense_Mutation_p.W45S|MACF1_ENST00000545844.1_Missense_Mutation_p.W45S|MACF1_ENST00000361689.2_Missense_Mutation_p.W45S|MACF1_ENST00000602421.1_Missense_Mutation_p.W45S|MACF1_ENST00000567887.1_Missense_Mutation_p.W45S|MACF1_ENST00000539005.1_Missense_Mutation_p.W45S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	45	Actin-binding.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCTTGCCCTGGAACCTGCCA	0.617																																																0													50	42	45					1																	39550024		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.134G>C	chr1.hg19:g.39550024G>C	ENSP00000362006:p.Trp45Ser		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	hg19		.	.	.	.	.	.	.	.	.	.	G	24.5	4.540445	0.85917	.	.	ENSG00000127603	ENST00000484793;ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005	T;T;T;T;T	0.64260	-0.06;0.0;-0.06;-0.09;0.1	5.55	5.55	0.83447	.	.	.	.	.	T	0.68091	0.2963	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.71104	-0.4689	9	0.54805	T	0.06	.	17.013	0.86411	0.0:0.0:1.0:0.0	.	45	F8W8Q1	.	S	45;45;45;45;61;45;45	ENSP00000439537:W45S;ENSP00000362006:W45S;ENSP00000354573:W45S;ENSP00000313438:W45S;ENSP00000444364:W45S	ENSP00000313438:W45S	W	+	2	0	MACF1	39322611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.954000	0.93051	2.611000	0.88343	0.655000	0.94253	TGG		0.617	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		C	39550024	G	C	39550024	3	2	22	1	0	0	0	0	1	0	0	0	9146	1357	47	4	136	4	MACF1	1	39550024	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10		39550024	209700597	1	1456											
ZZZ3	26009	hgsc.bcm.edu	37	1	78034104	78034104	+	Silent	SNP	T	T	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr1:78034104T>C	ENST00000370801.3	-	13	2854	c.2379A>G	c.(2377-2379)aaA>aaG	p.K793K	ZZZ3_ENST00000370798.1_Silent_p.K299K|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	793					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GTAATAGTTCTTTATATTCAG	0.279																																																0													63	67	65					1																	78034104		2203	4298	6501	SO:0001819	synonymous_variant	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2379A>G	chr1.hg19:g.78034104T>C			B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	ENST00000370801.3	hg19	CCDS677.1																																																																																				0.279	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		C	78034104	T	C	78034104	2	2	22	1	0	0	0	0	0	0	0	1	18261	1606	56	3		3	ZZZ3	1	78034104	Silent	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	38484080	78034104	171216517	2	1457											
SASS6	163786	hgsc.bcm.edu	37	1	100573051	100573051	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr1:100573051T>G	ENST00000287482.5	-	11	1345	c.1205A>C	c.(1204-1206)aAa>aCa	p.K402T	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.K235T	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	402					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATTCTTCAATTTCAACTTACC	0.308																																																0													70	73	72					1																	100573051		2201	4290	6491	SO:0001583	missense	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1205A>C	chr1.hg19:g.100573051T>G	ENSP00000287482:p.Lys402Thr		D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	hg19	CCDS764.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936841	0.73557	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.32988	1.43;1.43	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.82716	2.605	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.56062	-0.8041	10	0.48119	T	0.1	-11.3163	15.8532	0.78952	0.0:0.0:0.0:1.0	.	402	Q6UVJ0	SAS6_HUMAN	T	402;375;235	ENSP00000287482:K402T;ENSP00000440169:K235T	ENSP00000287482:K402T	K	-	2	0	SASS6	100345639	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.990000	0.76225	2.140000	0.66376	0.477000	0.44152	AAA		0.308	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		G	100573051	T	G	100573051	3	3	22	1	0	0	0	0	1	0	0	0	13856	1841	64	5	796	5	SASS6	1	100573051	Missense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	22538947	100573051	148677570	3	1458											
WDR77	79084	hgsc.bcm.edu	37	1	111990187	111990187	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr1:111990187A>T	ENST00000235090.5	-	3	519	c.313T>A	c.(313-315)Ttg>Atg	p.L105M	Y_RNA_ENST00000363020.1_RNA|ATP5F1_ENST00000369722.3_5'Flank|ATP5F1_ENST00000483994.1_5'Flank|WDR77_ENST00000411751.2_Intron|WDR77_ENST00000497278.1_5'Flank	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	105					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTTCCCACAATTCAACAGCA	0.428																																																0													123	103	110					1																	111990187		2203	4300	6503	SO:0001583	missense	79084			BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"WD repeat domain containing"	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.313T>A	chr1.hg19:g.111990187A>T	ENSP00000235090:p.Leu105Met		B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	hg19	CCDS835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.4|21.4	4.147877|4.147877	0.78001|0.78001	.|.	.|.	ENSG00000116455|ENSG00000116455	ENST00000235090|ENST00000449340	T|.	0.35973|.	1.28|.	5.76|5.76	3.4|3.4	0.38934|0.38934	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.129654|.	0.53938|.	D|.	0.000056|.	T|T	0.43545|0.43545	0.1252|0.1252	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.62740|.	0.906|.	T|T	0.44907|0.44907	-0.9297|-0.9297	10|5	0.87932|.	D|.	0|.	-11.3985|-11.3985	4.9088|4.9088	0.13811|0.13811	0.4997:0.0:0.5003:0.0|0.4997:0.0:0.5003:0.0	.|.	105|.	Q9BQA1|.	MEP50_HUMAN|.	M|K	105|41	ENSP00000235090:L105M|.	ENSP00000235090:L105M|.	L|N	-|-	1|3	2|2	WDR77|WDR77	111791710|111791710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.746000|2.746000	0.47467|0.47467	1.003000|1.003000	0.39130|0.39130	0.379000|0.379000	0.24179|0.24179	TTG|AAT		0.428	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		T	111990187	A	T	111990187	3	4	22	1	0	0	0	0	1	0	0	0	17332	98	4	5	747	5	WDR77	1	111990187	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	11417136	111990187	137260434	4	1459											
MTMR11	10903	hgsc.bcm.edu	37	1	149907227	149907227	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr1:149907227T>C	ENST00000439741.2	-	4	540	c.290A>G	c.(289-291)gAt>gGt	p.D97G	MTMR11_ENST00000406732.3_Missense_Mutation_p.D69G|MTMR11_ENST00000361405.6_Missense_Mutation_p.D97G|MTMR11_ENST00000369140.3_Missense_Mutation_p.D25G|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	97							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAGGGCAAAATCGTATTCACT	0.527																																																0													98	82	87					1																	149907227		2203	4300	6503	SO:0001583	missense	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.290A>G	chr1.hg19:g.149907227T>C	ENSP00000391668:p.Asp97Gly		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	hg19	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.644788	0.67358	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000361405;ENST00000406732	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.11	5.11	0.69529	.	0.112517	0.64402	D	0.000012	D	0.87434	0.6176	M	0.73962	2.25	0.45554	D	0.998509	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.87578	0.998;0.995;0.989	D	0.87975	0.2739	9	.	.	.	.	11.2282	0.48897	0.0:0.0:0.0:1.0	.	69;25;97	A4FU01-6;A4FU01-4;A4FU01	.;.;MTMRB_HUMAN	G	25;97;97;69	ENSP00000358136:D25G;ENSP00000391668:D97G;ENSP00000354941:D97G;ENSP00000383948:D69G	.	D	-	2	0	MTMR11	148173851	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.778000	0.55371	2.145000	0.66743	0.528000	0.53228	GAT		0.527	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		C	149907227	T	C	149907227	3	2	22	1	0	0	0	0	1	0	0	0	9942	1435	50	3	1934	3	MTMR11	1	149907227	Missense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	37917040	149907227	99343394	5	1460											
BNIPL	149428	hgsc.bcm.edu	37	1	151009216	151009216	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr1:151009216A>T	ENST00000368931.3	+	1	171	c.15A>T	c.(13-15)caA>caT	p.Q5H	BNIPL_ENST00000295294.7_5'UTR	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	5					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAACTATACAAGAGGCAGGAA	0.483																																																0													144	140	142					1																	151009216		1898	4125	6023	SO:0001583	missense	149428			AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.15A>T	chr1.hg19:g.151009216A>T	ENSP00000357927:p.Gln5His		Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	hg19	CCDS978.2	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180184	0.57800	.	.	ENSG00000163141	ENST00000368931;ENST00000361277	T;T	0.38401	1.15;1.14	4.7	-1.45	0.08828	.	0.594348	0.15154	N	0.277530	T	0.17109	0.0411	M	0.63428	1.95	0.28607	N	0.908861	P	0.37864	0.61	B	0.38712	0.28	T	0.12502	-1.0545	10	0.59425	D	0.04	.	8.6368	0.33953	0.5017:0.0:0.4983:0.0	.	5	Q7Z465	BNIPL_HUMAN	H	5	ENSP00000357927:Q5H;ENSP00000355333:Q5H	ENSP00000355333:Q5H	Q	+	3	2	BNIPL	149275840	0.182000	0.23173	0.101000	0.21167	0.276000	0.26787	-0.720000	0.04969	-0.128000	0.11641	-0.304000	0.09214	CAA		0.483	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		T	151009216	A	T	151009216	3	4	22	1	0	0	0	0	1	0	0	0	1480	69	3	5	17	5	BNIPL	1	151009216	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	1101989	151009216	98241405	6	1461											
SLC27A3	11000	hgsc.bcm.edu	37	1	153751216	153751216	+	Missense_Mutation	SNP	T	T	A	rs141064582		TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr1:153751216T>A	ENST00000368661.3	+	7	1707	c.1642T>A	c.(1642-1644)Tat>Aat	p.Y548N	SLC27A3_ENST00000271857.2_Missense_Mutation_p.Y629N|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	548					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATTCCTGGGCTATGCTGGCGG	0.622																																																0													41	42	41					1																	153751216		2203	4300	6503	SO:0001583	missense	11000			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1642T>A	chr1.hg19:g.153751216T>A	ENSP00000357650:p.Tyr548Asn		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	hg19	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.381272	0.82792	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.50813	0.73;0.73	5.14	5.14	0.70334	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.76292	0.3967	H	0.98542	4.26	0.51482	D	0.999923	D	0.76494	0.999	D	0.81914	0.995	D	0.85387	0.1123	10	0.87932	D	0	-14.8688	12.9728	0.58522	0.0:0.0:0.0:1.0	.	548	Q5K4L6	S27A3_HUMAN	N	629;548	ENSP00000271857:Y629N;ENSP00000357650:Y548N	ENSP00000271857:Y629N	Y	+	1	0	SLC27A3	152017840	1.000000	0.71417	0.994000	0.49952	0.801000	0.45260	5.950000	0.70265	2.155000	0.67459	0.460000	0.39030	TAT		0.622	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		A	153751216	T	A	153751216	3	1	22	1	0	0	0	0	1	0	0	0	14533	1522	53	5	1668	5	SLC27A3	1	153751216	Missense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	2742000	153751216	95499405	7	1462											
DENND4B	9909	hgsc.bcm.edu	37	1	153903435	153903435	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr1:153903435A>C	ENST00000361217.4	-	25	4520	c.4102T>G	c.(4102-4104)Tgg>Ggg	p.W1368G	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1368					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGACCCTCCAGAGCACATAG	0.572																																																0													29	32	31					1																	153903435		1907	4124	6031	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4102T>G	chr1.hg19:g.153903435A>C	ENSP00000354597:p.Trp1368Gly		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	hg19	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634508	0.47049	.	.	ENSG00000198837	ENST00000361217	T	0.21543	2.0	5.14	4.01	0.46588	.	0.060660	0.64402	N	0.000001	T	0.28532	0.0706	M	0.71871	2.18	0.58432	D	0.999999	D	0.69078	0.997	P	0.60789	0.879	T	0.08806	-1.0704	10	0.87932	D	0	-8.0431	11.3312	0.49477	0.8472:0.1528:0.0:0.0	.	1368	O75064	DEN4B_HUMAN	G	1368	ENSP00000354597:W1368G	ENSP00000354597:W1368G	W	-	1	0	DENND4B	152170059	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.584000	0.82572	0.958000	0.37956	-0.461000	0.05368	TGG		0.572	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		C	153903435	A	C	153903435	3	2	22	1	0	0	0	0	1	0	0	0	4436	188	7	5	404	5	DENND4B	1	153903435	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	152219	153903435	95347186	8	1463											
HCN3	57657	hgsc.bcm.edu	37	1	155258126	155258126	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr1:155258126G>A	ENST00000368358.3	+	8	2205	c.2197G>A	c.(2197-2199)Gga>Aga	p.G733R	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	733	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGGCGTAAGGGATCAGGAAG	0.692																																																0													31	34	33					1																	155258126		2203	4299	6502	SO:0001583	missense	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.2197G>A	chr1.hg19:g.155258126G>A	ENSP00000357342:p.Gly733Arg		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	hg19	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692523	0.48202	.	.	ENSG00000143630	ENST00000368358	D	0.97888	-4.59	5.01	4.09	0.47781	.	0.126715	0.36101	N	0.002785	D	0.90752	0.7097	N	0.08118	0	0.36001	D	0.837413	P;P	0.44260	0.83;0.733	P;B	0.44946	0.465;0.346	D	0.91322	0.5083	10	0.40728	T	0.16	.	11.3683	0.49686	0.0887:0.0:0.9113:0.0	.	428;733	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	R	733	ENSP00000357342:G733R	ENSP00000357342:G733R	G	+	1	0	HCN3	153524750	0.967000	0.33354	1.000000	0.80357	0.964000	0.63967	1.074000	0.30703	1.464000	0.47987	0.557000	0.71058	GGA		0.692	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		A	155258126	G	A	155258126	3	1	22	1	0	0	0	0	1	0	0	0	7000	1233	43	2	2227	2	HCN3	1	155258126	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	1354691	155258126	93992495	9	1464											
PYHIN1	149628	hgsc.bcm.edu	37	1	158911893	158911893	+	Silent	SNP	A	A	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr1:158911893A>C	ENST00000368140.1	+	5	951	c.706A>C	c.(706-708)Aga>Cga	p.R236R	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.R227R|PYHIN1_ENST00000392252.3_Silent_p.R227R|PYHIN1_ENST00000392254.2_Silent_p.R236R	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	236	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAATGAGCAAAGAAGAATGTT	0.348																																																0													71	73	72					1																	158911893		2203	4300	6503	SO:0001819	synonymous_variant	149628			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.706A>C	chr1.hg19:g.158911893A>C			Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	hg19	CCDS1178.1																																																																																				0.348	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		C	158911893	A	C	158911893	2	2	22	1	0	0	0	0	0	0	0	1	12871	64	3	5		5	PYHIN1	1	158911893	Silent	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	3653767	158911893	90338728	10	1465											
ABCB10	23456	hgsc.bcm.edu	37	1	229684985	229684985	+	Silent	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr1:229684985A>G	ENST00000344517.4	-	2	756	c.714T>C	c.(712-714)acT>acC	p.T238T	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	238	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TGTTACCTGAAGTTTGCATGA	0.542																																																0													86	77	80					1																	229684985		2203	4300	6503	SO:0001819	synonymous_variant	23456			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.714T>C	chr1.hg19:g.229684985A>G			Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	ENST00000344517.4	hg19	CCDS1580.1																																																																																				0.542	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		G	229684985	A	G	229684985	2	3	22	1	0	0	0	0	0	0	0	1	41	59	3	3		3	ABCB10	1	229684985	Silent	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	70773092	229684985	19565636	11	1466											
ADCY3	109	hgsc.bcm.edu	37	2	25042856	25042856	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr2:25042856G>A	ENST00000260600.5	-	21	4231	c.3380C>T	c.(3379-3381)aCc>aTc	p.T1127I	CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.T714I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1127					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ATTGGGGAAGGTGGCTAGCTT	0.582																																																0													58	50	53					2																	25042856		2203	4300	6503	SO:0001583	missense	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3380C>T	chr2.hg19:g.25042856G>A	ENSP00000260600:p.Thr1127Ile		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	hg19	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725137	0.30593	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.81330	-1.35;-1.48	5.59	4.72	0.59763	.	0.702099	0.14759	N	0.300131	T	0.74718	0.3753	L	0.39898	1.24	0.28882	N	0.894332	B;B;B	0.17268	0.021;0.021;0.001	B;B;B	0.14023	0.01;0.01;0.002	T	0.67393	-0.5682	10	0.41790	T	0.15	.	14.6206	0.68582	0.0711:0.0:0.9289:0.0	.	1128;1127;714	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	1127;714;1102	ENSP00000260600:T1127I;ENSP00000384484:T714I	ENSP00000260600:T1127I	T	-	2	0	ADCY3	24896360	1.000000	0.71417	0.788000	0.31933	0.028000	0.11728	6.328000	0.72915	1.499000	0.48617	0.655000	0.94253	ACC		0.582	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			A	25042856	G	A	25042856	3	1	22	1	0	0	0	0	1	0	0	0	295	1261	44	2	58	2	ADCY3	2	25042856	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10		25042856	218156517	12	1467											
BIRC6	57448	hgsc.bcm.edu	37	2	32740321	32740321	+	Silent	SNP	T	T	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr2:32740321T>C	ENST00000421745.2	+	55	10967	c.10833T>C	c.(10831-10833)gcT>gcC	p.A3611A		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3611					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CACATTTGGCTACCCTTGCTT	0.403																																					Pancreas(94;175 1509 16028 18060 45422)											0													130	129	129					2																	32740321		2203	4300	6503	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10833T>C	chr2.hg19:g.32740321T>C			Q9ULD1	Silent	SNP	ENST00000421745.2	hg19	CCDS33175.2																																																																																				0.403	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		C	32740321	T	C	32740321	2	2	22	1	0	0	0	0	0	0	0	1	1438	1509	53	3		3	BIRC6	2	32740321	Silent	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	7697465	32740321	210459052	13	1468											
LIMS1	3987	hgsc.bcm.edu	37	2	109292439	109292439	+	Silent	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr2:109292439C>T	ENST00000393310.1	+	6	767	c.600C>T	c.(598-600)atC>atT	p.I200I	LIMS1_ENST00000409441.1_Silent_p.I237I|LIMS1_ENST00000338045.3_Silent_p.I200I|LIMS1_ENST00000332345.6_Silent_p.I200I|LIMS1_ENST00000410093.1_Silent_p.I204I|AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000542845.1_Silent_p.I262I|LIMS1_ENST00000544547.1_Silent_p.I212I	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	200	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GACGGCCCATCGAAGGGCGCG	0.547																																																0													46	41	42					2																	109292439		2203	4300	6503	SO:0001819	synonymous_variant	3987				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.600C>T	chr2.hg19:g.109292439C>T			B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Silent	SNP	ENST00000393310.1	hg19	CCDS2078.1																																																																																				0.547	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		T	109292439	C	T	109292439	2	4	22	1	0	0	0	0	0	0	0	1	8805	874	31	1		1	LIMS1	2	109292439	Silent	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	76552118	109292439	133906934	14	1469											
LRP2	4036	hgsc.bcm.edu	37	2	170058161	170058163	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	TTA	TTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr2:170058161_170058163delTTA	ENST00000263816.3	-	44	8712_8714	c.8427_8429delTAA	c.(8425-8430)aataac>aac	p.2809_2810NN>N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2809	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATCTGAAGTGTTATTATCATGGC	0.379																																																0																																										SO:0001651	inframe_deletion	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8427_8429delTAA	chr2.hg19:g.170058164_170058166delTTA	ENSP00000263816:p.Asn2810del		O00711|Q16215	In_Frame_Del	DEL	ENST00000263816.3	hg19	CCDS2232.1																																																																																				0.379	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		-	170058163	TTA	-	170058161	7	5	22	1	0	1	0	1	0	0	0	0	8958	1725	60	0	5682	0	LRP2	2	170058161	In_Frame_Del	DEL	TTA	TCGA-2Z-A9JS-01A-21D-A42J-10	60765722	170058161	73141212	15	1470											
SP3	6670	hgsc.bcm.edu	37	2	174820712	174820712	+	Silent	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr2:174820712G>A	ENST00000310015.6	-	4	1058	c.528C>T	c.(526-528)atC>atT	p.I176I	SP3_ENST00000455789.2_Silent_p.I123I|SP3_ENST00000483084.1_5'Flank|SP3_ENST00000418194.2_Silent_p.I108I	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	176	Transactivation domain (Gln-rich).				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGCTGACTGGATCTGTGGTA	0.403																																																0													247	244	245					2																	174820712		2203	4300	6503	SO:0001819	synonymous_variant	6670			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.528C>T	chr2.hg19:g.174820712G>A			A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	hg19	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	G	3.289	-0.145284	0.06627	.	.	ENSG00000172845	ENST00000416195	.	.	.	5.95	4.73	0.59995	.	.	.	.	.	T	0.58807	0.2148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55829	-0.8079	4	.	.	.	.	8.0434	0.30534	0.77:0.0:0.23:0.0	.	.	.	.	F	133	.	.	S	-	2	0	SP3	174528958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.317000	0.33631	1.063000	0.40649	-0.440000	0.05779	TCC		0.403	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		A	174820712	G	A	174820712	2	1	22	1	0	0	0	0	0	0	0	1	14971	1164	41	2		2	SP3	2	174820712	Silent	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	4762551	174820712	68378661	16	1471											
MAP2	4133	hgsc.bcm.edu	37	2	210561373	210561373	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr2:210561373delC	ENST00000360351.4	+	8	4794	c.4288delC	c.(4288-4290)cctfs	p.P1430fs	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Frame_Shift_Del_p.P1426fs|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1430					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAAAGAAAAGCCTTTTAAAAC	0.403																																					Pancreas(27;423 979 28787 29963)											0													60	66	64					2																	210561373		2203	4300	6503	SO:0001589	frameshift_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4288delC	chr2.hg19:g.210561373delC	ENSP00000353508:p.Pro1430fs		Q17S04|Q8IUX2|Q99975|Q99976	Frame_Shift_Del	DEL	ENST00000360351.4	hg19	CCDS2384.1																																																																																				0.403	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		-	210561373	C	-	210561373	7	5	22	1	0	1	0	1	0	0	0	0	9237	739	26	0	4306	0	MAP2	2	210561373	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JS-01A-21D-A42J-10	35740661	210561373	32638000	17	1472											
PNKD	25953	hgsc.bcm.edu	37	2	219205495	219205496	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr2:219205495_219205496insG	ENST00000273077.4	+	5	561_562	c.510_511insG	c.(511-513)actfs	p.T171fs	PNKD_ENST00000258362.3_Frame_Shift_Ins_p.T147fs|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Frame_Shift_Ins_p.T111fs	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	171					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATTCTGTGTACTCACAAGCA	0.604																																																0																																										SO:0001589	frameshift_variant	25953				CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"myofibrillogenesis regulator 1"	609023	"paroxysmal nonkinesiogenic dyskinesia"			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	Exception_encountered	chr2.hg19:g.219205495_219205496insG	ENSP00000273077:p.Thr171fs		A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Frame_Shift_Ins	INS	ENST00000273077.4	hg19	CCDS2411.1																																																																																				0.604	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			G	219205496	-	G	219205495	7	5	22	1	0	1	1	0	0	0	0	0	12148	1644	57	0	893	0	PNKD	2	219205495	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JS-01A-21D-A42J-10	8644122	219205495	23993878	18	1473											
C2orf54	79919	hgsc.bcm.edu	37	2	241835325	241835325	+	Silent	SNP	C	C	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr2:241835325C>G	ENST00000388934.4	-	1	248	c.90G>C	c.(88-90)gcG>gcC	p.A30A		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	30										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GGGCACGCGGCGCCTCCCGGG	0.687																																																0													10	12	12					2																	241835325		2081	4195	6276	SO:0001819	synonymous_variant	79919			AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.90G>C	chr2.hg19:g.241835325C>G			B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	hg19	CCDS42839.1																																																																																				0.687	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		G	241835325	C	G	241835325	2	3	22	1	0	0	0	0	0	0	0	1	2177	755	27	4		4	C2orf54	2	241835325	Silent	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	22629830	241835325	1364048	19	1474											
CNTN4	152330	hgsc.bcm.edu	37	3	3095549	3095549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr3:3095549C>A	ENST00000397461.1	+	23	3254	c.2870C>A	c.(2869-2871)tCg>tAg	p.S957*	CNTN4_ENST00000358480.3_Nonsense_Mutation_p.S738*|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Nonsense_Mutation_p.S629*|CNTN4_ENST00000448906.2_Nonsense_Mutation_p.S629*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.S957*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.S957*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	957	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATAAAACATCGGTGGAGCTT	0.423																																																0													98	106	103					3																	3095549		2203	4300	6503	SO:0001587	stop_gained	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2870C>A	chr3.hg19:g.3095549C>A	ENSP00000380602:p.Ser957*		B2RAX3|Q8IX14|Q8TC35	Nonsense_Mutation	SNP	ENST00000397461.1	hg19	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	40	8.002247	0.98605	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	.	.	.	5.14	5.14	0.70334	.	0.067800	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6165	0.91304	0.0:1.0:0.0:0.0	.	.	.	.	X	957;957;957;738;629;629	.	ENSP00000351267:S738X	S	+	2	0	CNTN4	3070549	1.000000	0.71417	0.753000	0.31225	0.999000	0.98932	5.598000	0.67585	2.377000	0.81083	0.655000	0.94253	TCG		0.423	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			A	3095549	C	A	3095549	4	1	22	1	0	0	0	0	0	1	0	0	3645	893	31	4	2952	4	CNTN4	3	3095549	Nonsense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10		3095549	194926881	20	1475											
HDAC11	79885	hgsc.bcm.edu	37	3	13525048	13525048	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr3:13525048A>C	ENST00000295757.3	+	3	419	c.236A>C	c.(235-237)tAt>tCt	p.Y79S	HDAC11_ENST00000402271.1_Missense_Mutation_p.Y79S|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404548.1_Missense_Mutation_p.Y79S|HDAC11_ENST00000522202.1_Missense_Mutation_p.Y51S|HDAC11_ENST00000437379.2_Missense_Mutation_p.Y51S|HDAC11_ENST00000433119.1_Missense_Mutation_p.Y51S|HDAC11_ENST00000404040.1_Missense_Mutation_p.Y79S|HDAC11_ENST00000405025.1_Missense_Mutation_p.Y51S|HDAC11_ENST00000446613.2_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	79	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						ACGAGGCGCTATCTTAATGAG	0.647																																																0													67	76	73					3																	13525048		2203	4300	6503	SO:0001583	missense	79885			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.236A>C	chr3.hg19:g.13525048A>C	ENSP00000295757:p.Tyr79Ser		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	hg19	CCDS2615.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683964	0.88639	.	.	ENSG00000163517	ENST00000433119;ENST00000295757;ENST00000402271;ENST00000404548;ENST00000404040;ENST00000458642;ENST00000405478;ENST00000405025;ENST00000522202;ENST00000418189;ENST00000434848;ENST00000416248;ENST00000455904;ENST00000437379	D;D;D;T;D;D;D;T;D;D;D;D	0.84223	-1.76;-1.82;-1.76;-0.66;-1.76;-1.76;-1.76;-0.96;-1.76;-1.76;-1.76;-1.76	5.91	5.91	0.95273	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.95082	0.8407	H	0.97611	4.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.96466	0.9345	10	0.87932	D	0	0.9856	13.7215	0.62730	1.0:0.0:0.0:0.0	.	51;51;51;79	B4DDK1;Q658J9;B5MCV5;Q96DB2	.;.;.;HDA11_HUMAN	S	51;79;79;79;79;79;51;51;51;98;98;51;51;51	ENSP00000295757:Y79S;ENSP00000384123:Y79S;ENSP00000385528:Y79S;ENSP00000385475:Y79S;ENSP00000405403:Y79S;ENSP00000385252:Y51S;ENSP00000384019:Y51S;ENSP00000429794:Y51S;ENSP00000398651:Y98S;ENSP00000402298:Y51S;ENSP00000396122:Y51S;ENSP00000395188:Y51S	ENSP00000295757:Y79S	Y	+	2	0	HDAC11	13500048	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.260000	0.78391	2.254000	0.74563	0.533000	0.62120	TAT		0.647	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		C	13525048	A	C	13525048	3	2	22	1	0	0	0	0	1	0	0	0	7008	449	16	5	246	5	HDAC11	3	13525048	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	10429499	13525048	184497382	21	1476											
FGD5	152273	hgsc.bcm.edu	37	3	14922083	14922083	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr3:14922083A>G	ENST00000285046.5	+	3	2773	c.2663A>G	c.(2662-2664)gAa>gGa	p.E888G	FGD5_ENST00000543601.1_Missense_Mutation_p.E647G	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	888					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCACAGGTGGAAGGACAGTCC	0.527																																																0													67	67	67					3																	14922083		2071	4204	6275	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2663A>G	chr3.hg19:g.14922083A>G	ENSP00000285046:p.Glu888Gly		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	hg19	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681534	0.47991	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.77358	-1.09;-0.93	4.99	4.99	0.66335	Dbl homology (DH) domain (1);	0.232426	0.29822	N	0.011101	T	0.71239	0.3316	L	0.57536	1.79	0.39731	D	0.971604	P;B	0.41475	0.751;0.205	B;B	0.34536	0.185;0.032	T	0.75085	-0.3442	10	0.45353	T	0.12	-13.8278	12.9328	0.58296	1.0:0.0:0.0:0.0	.	647;888	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	G	888;647	ENSP00000285046:E888G;ENSP00000445949:E647G	ENSP00000285046:E888G	E	+	2	0	FGD5	14897087	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.065000	0.57513	1.874000	0.54306	0.260000	0.18958	GAA		0.527	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		G	14922083	A	G	14922083	3	3	22	1	0	0	0	0	1	0	0	0	5838	246	9	3	2673	3	FGD5	3	14922083	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	1397035	14922083	183100347	22	1477											
SEC22C	9117	hgsc.bcm.edu	37	3	42594897	42594897	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr3:42594897A>G	ENST00000264454.3	-	7	898	c.755T>C	c.(754-756)gTg>gCg	p.V252A	SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000273156.7_Intron|SEC22C_ENST00000536332.1_Intron			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	252					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CATAAGCACCACCTTCATAGT	0.453																																																0													97	95	96					3																	42594897		2203	4300	6503	SO:0001583	missense	9117			AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.755T>C	chr3.hg19:g.42594897A>G	ENSP00000264454:p.Val252Ala		O95152|Q68CX3|Q6UW18	Missense_Mutation	SNP	ENST00000264454.3	hg19	CCDS2700.1	.	.	.	.	.	.	.	.	.	.	A	9.808	1.182327	0.21870	.	.	ENSG00000093183	ENST00000264454	T	0.16324	2.35	4.25	3.09	0.35607	.	0.345862	0.29594	N	0.011709	T	0.07954	0.0199	N	0.12182	0.205	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.24870	-1.0148	10	0.20046	T	0.44	-23.3351	6.6199	0.22798	0.7104:0.0:0.2896:0.0	.	252	Q9BRL7	SC22C_HUMAN	A	252	ENSP00000264454:V252A	ENSP00000264454:V252A	V	-	2	0	SEC22C	42569901	0.989000	0.36119	1.000000	0.80357	0.995000	0.86356	1.955000	0.40372	0.790000	0.33803	0.482000	0.46254	GTG		0.453	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206		G	42594897	A	G	42594897	3	3	22	1	0	0	0	0	1	0	0	0	13996	159	6	3	206	3	SEC22C	3	42594897	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	27672814	42594897	155427533	23	1478											
NCKIPSD	51517	hgsc.bcm.edu	37	3	48718979	48718979	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr3:48718979G>C	ENST00000294129.2	-	5	952	c.833C>G	c.(832-834)aCt>aGt	p.T278S	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.T271S|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.T278S	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	278					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTTGTACCAGTTGCCACTTC	0.642																																																0													82	73	76					3																	48718979		2203	4300	6503	SO:0001583	missense	51517			AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.833C>G	chr3.hg19:g.48718979G>C	ENSP00000294129:p.Thr278Ser		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	hg19	CCDS2776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.037|0.037	-1.300432|-1.300432	0.01364|0.01364	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000415281|ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349;ENST00000426678	.|T;T;T;T	.|0.41065	.|1.01;1.62;1.64;1.66	5.27|5.27	-4.4|-4.4	0.03600|0.03600	.|.	.|1.160740	.|0.06523	.|U	.|0.739951	T|T	0.16085|0.16085	0.0387|0.0387	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.0;0.001	T|T	0.27434|0.27434	-1.0074|-1.0074	5|10	.|0.06365	.|T	.|0.9	.|.	5.1942|5.1942	0.15227|0.15227	0.1384:0.1345:0.5335:0.1936|0.1384:0.1345:0.5335:0.1936	.|.	.|278;278;271	.|C9JSC3;Q9NZQ3;Q9NZQ3-3	.|.;SPN90_HUMAN;.	K|S	13|278;271;278;278;200;162	.|ENSP00000342621:T278S;ENSP00000389059:T271S;ENSP00000294129:T278S;ENSP00000409675:T278S	.|ENSP00000294129:T278S	N|T	-|-	3|2	2|0	NCKIPSD|NCKIPSD	48693983|48693983	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.275000|0.275000	0.26752|0.26752	-0.325000|-0.325000	0.07976|0.07976	-0.772000|-0.772000	0.04602|0.04602	-0.471000|-0.471000	0.05019|0.05019	AAC|ACT		0.642	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		C	48718979	G	C	48718979	3	2	22	1	0	0	0	0	1	0	0	0	10227	1029	36	4	1371	4	NCKIPSD	3	48718979	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	6124082	48718979	149303451	24	1479											
WDFY3	23001	hgsc.bcm.edu	37	4	85716133	85716133	+	Splice_Site	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr4:85716133C>T	ENST00000295888.4	-	20	3575		c.e20-1		WDFY3_ENST00000322366.6_Splice_Site	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3						aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAAAAGACATCTATTAAAGAA	0.398																																																0													58	57	58					4																	85716133		2203	4300	6503	SO:0001630	splice_region_variant	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3168-1G>A	chr4.hg19:g.85716133C>T			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Splice_Site	SNP	ENST00000295888.4	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632744	0.67015	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6264	0.95679	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDFY3	85935157	1.000000	0.71417	0.996000	0.52242	0.455000	0.32408	7.445000	0.80570	2.717000	0.92951	0.655000	0.94253	.		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	Intron	T	85716133	C	T	85716133	5	4	22	1	0	0	0	0	0	0	1	0	17275	927	32	2	7609	2	WDFY3	4	85716133	Splice_Site	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10		85716133	105438143	25	1480											
ARHGAP24	83478	hgsc.bcm.edu	37	4	86916381	86916381	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr4:86916381A>C	ENST00000395184.1	+	9	2040	c.1574A>C	c.(1573-1575)cAg>cCg	p.Q525P	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.Q432P|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.Q430P	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	525					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GAGTTAGGCCAGCACAACAGA	0.488																																																0													141	120	127					4																	86916381		2203	4300	6503	SO:0001583	missense	83478			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1574A>C	chr4.hg19:g.86916381A>C	ENSP00000378611:p.Gln525Pro		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	hg19	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710859	0.68730	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.14516	2.84;2.5;2.5;2.5	5.87	5.87	0.94306	.	0.167043	0.53938	D	0.000042	T	0.30293	0.0760	L	0.54323	1.7	0.58432	D	0.999997	D;P;D	0.67145	0.995;0.934;0.996	P;P;P	0.59703	0.862;0.767;0.794	T	0.00939	-1.1507	10	0.66056	D	0.02	.	16.2567	0.82522	1.0:0.0:0.0:0.0	.	430;432;525	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	P	525;430;440;432	ENSP00000378611:Q525P;ENSP00000378610:Q430P;ENSP00000425589:Q440P;ENSP00000264343:Q432P	ENSP00000264343:Q432P	Q	+	2	0	ARHGAP24	87135405	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.581000	0.74045	2.242000	0.73789	0.482000	0.46254	CAG		0.488	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		C	86916381	A	C	86916381	3	2	22	1	0	0	0	0	1	0	0	0	873	188	7	5	1720	5	ARHGAP24	4	86916381	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	1200248	86916381	104237895	26	1481											
POU4F2	5458	hgsc.bcm.edu	37	4	147560484	147560484	+	Silent	SNP	C	C	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr4:147560484C>A	ENST00000281321.3	+	1	440	c.192C>A	c.(190-192)ggC>ggA	p.G64G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	64	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					gcggcggcggcggcggcggag	0.771																																																0													3	5	5					4																	147560484		1329	2897	4226	SO:0001819	synonymous_variant	5458			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.192C>A	chr4.hg19:g.147560484C>A			B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	hg19	CCDS34074.1																																																																																				0.771	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		A	147560484	C	A	147560484	2	1	22	1	0	0	0	0	0	0	0	1	12281	755	27	4		4	POU4F2	4	147560484	Silent	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	60644103	147560484	43593792	27	1482											
KIAA0922	23240	hgsc.bcm.edu	37	4	154523827	154523827	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr4:154523827C>T	ENST00000409663.3	+	23	2636	c.2584C>T	c.(2584-2586)Cca>Tca	p.P862S	KIAA0922_ENST00000409959.3_Missense_Mutation_p.P863S|KIAA0922_ENST00000440693.1_Missense_Mutation_p.P779S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	862						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGACGTGGTTCCAGGACCCAG	0.512																																																0													178	172	174					4																	154523827		2203	4300	6503	SO:0001583	missense	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2584C>T	chr4.hg19:g.154523827C>T	ENSP00000386574:p.Pro862Ser		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	hg19	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944424	0.92593	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.24723	2.09;1.84;2.08;1.85	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.86268	2.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.63580	-0.6605	10	0.72032	D	0.01	-16.3383	19.6869	0.95982	0.0:1.0:0.0:0.0	.	779;863;862	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	S	862;779;863;640	ENSP00000386574:P862S;ENSP00000409663:P779S;ENSP00000386787:P863S;ENSP00000240487:P640S	ENSP00000240487:P640S	P	+	1	0	KIAA0922	154743277	1.000000	0.71417	0.883000	0.34634	0.994000	0.84299	7.398000	0.79919	2.726000	0.93360	0.655000	0.94253	CCA		0.512	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		T	154523827	C	T	154523827	3	4	22	1	0	0	0	0	1	0	0	0	8203	855	30	2	2677	2	KIAA0922	4	154523827	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	6963343	154523827	36630449	28	1483											
AGA	175	hgsc.bcm.edu	37	4	178354476	178354476	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr4:178354476T>A	ENST00000264595.2	-	8	959	c.832A>T	c.(832-834)Aga>Tga	p.R278*	AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	278					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TCTTCTCCTCTTCTCATGTAT	0.388																																																0													160	157	158					4																	178354476		2203	4300	6503	SO:0001587	stop_gained	175			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.832A>T	chr4.hg19:g.178354476T>A	ENSP00000264595:p.Arg278*		B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Nonsense_Mutation	SNP	ENST00000264595.2	hg19	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327041	0.81690	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	.	.	.	5.98	-9.32	0.00643	.	1.744170	0.02144	N	0.057429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-18.6433	7.5456	0.27764	0.0:0.3083:0.2807:0.411	.	.	.	.	X	278;135	.	ENSP00000264595:R278X	R	-	1	2	AGA	178591470	0.000000	0.05858	0.004000	0.12327	0.964000	0.63967	-0.368000	0.07543	-1.547000	0.01715	-1.171000	0.01739	AGA		0.388	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		A	178354476	T	A	178354476	4	1	22	1	0	0	0	0	0	1	0	0	365	1617	56	5	216	5	AGA	4	178354476	Nonsense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	23830649	178354476	12799800	29	1484											
FAT1	2195	hgsc.bcm.edu	37	4	187539964	187539964	+	Silent	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr4:187539964A>G	ENST00000441802.2	-	10	7985	c.7776T>C	c.(7774-7776)aaT>aaC	p.N2592N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2592	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATTGTGGTGCATTGTCATTGT	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													58	56	56					4																	187539964		1994	4153	6147	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7776T>C	chr4.hg19:g.187539964A>G				Silent	SNP	ENST00000441802.2	hg19	CCDS47177.1																																																																																				0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		G	187539964	A	G	187539964	2	3	22	1	0	0	0	0	0	0	0	1	5691	214	8	3		3	FAT1	4	187539964	Silent	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	9185488	187539964	3614312	30	1485											
CLPTM1L	81037	hgsc.bcm.edu	37	5	1338066	1338066	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr5:1338066G>A	ENST00000320895.5	-	5	888	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.P78S|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.P211S	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	211					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		AACAGGATGGGCAGGTAATGC	0.527																																																0													132	107	116					5																	1338066		2203	4297	6500	SO:0001583	missense	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.631C>T	chr5.hg19:g.1338066G>A	ENSP00000313854:p.Pro211Ser		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	hg19	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680386	0.88542	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.76448	-0.5;-0.5;-1.02	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93044	0.6460	10	0.87932	D	0	-28.9216	16.6738	0.85273	0.0:0.0:1.0:0.0	.	211;78	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	S	211;78;211	ENSP00000313854:P211S;ENSP00000423321:P78S;ENSP00000315196:P211S	ENSP00000313854:P211S	P	-	1	0	CLPTM1L	1391066	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.128000	0.89595	2.339000	0.79563	0.655000	0.94253	CCC		0.527	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		A	1338066	G	A	1338066	3	1	22	1	0	0	0	0	1	0	0	0	3557	1203	42	2	1037	2	CLPTM1L	5	1338066	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10		1338066	179577194	31	1486											
RAI14	26064	hgsc.bcm.edu	37	5	34757673	34757673	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr5:34757673C>T	ENST00000265109.3	+	3	424	c.137C>T	c.(136-138)gCc>gTc	p.A46V	RAI14_ENST00000515799.1_Missense_Mutation_p.A49V|RAI14_ENST00000506376.1_Missense_Mutation_p.A38V|RAI14_ENST00000428746.2_Missense_Mutation_p.A46V|RAI14_ENST00000512629.1_Missense_Mutation_p.A46V|RAI14_ENST00000503673.1_Missense_Mutation_p.A46V|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000397449.1_Missense_Mutation_p.A39V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	46						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GGGGCCAGTGCCACCAAACAC	0.537																																																0													72	69	70					5																	34757673		2203	4300	6503	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.137C>T	chr5.hg19:g.34757673C>T	ENSP00000265109:p.Ala46Val		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	hg19	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	36	5.647579	0.96714	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.72	5.72	0.89469	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.52322	0.1727	N	0.02391	-0.57	0.58432	D	0.999999	D;D;D;D	0.67145	0.972;0.978;0.995;0.996	P;P;P;D	0.63597	0.797;0.871;0.864;0.916	T	0.61811	-0.6986	9	0.26408	T	0.33	-12.1349	19.8937	0.96942	0.0:1.0:0.0:0.0	.	38;46;49;46	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	V	46;46;46;46;46;46;46;46;46;46;49;46;46;38;39	ENSP00000265109:A46V;ENSP00000424879:A46V;ENSP00000422112:A46V;ENSP00000422377:A46V;ENSP00000388725:A46V;ENSP00000421424:A46V;ENSP00000422942:A46V;ENSP00000422515:A46V;ENSP00000422114:A46V;ENSP00000424502:A46V;ENSP00000427123:A49V;ENSP00000426770:A46V;ENSP00000425115:A46V;ENSP00000423854:A38V;ENSP00000380591:A39V	ENSP00000265109:A46V	A	+	2	0	RAI14	34793430	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.052000	0.71080	2.716000	0.92895	0.650000	0.86243	GCC		0.537	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		T	34757673	C	T	34757673	3	4	22	1	0	0	0	0	1	0	0	0	13014	739	26	2	208	2	RAI14	5	34757673	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	33419607	34757673	146157587	32	1487											
CMYA5	202333	hgsc.bcm.edu	37	5	79034827	79034827	+	Silent	SNP	T	T	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr5:79034827T>A	ENST00000446378.2	+	2	10270	c.10239T>A	c.(10237-10239)cgT>cgA	p.R3413R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3413					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAGGCTCCGTAATAGCCCTG	0.433																																																0													86	83	84					5																	79034827		1900	4105	6005	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10239T>A	chr5.hg19:g.79034827T>A			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	hg19	CCDS47238.1																																																																																				0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		A	79034827	T	A	79034827	2	1	22	1	0	0	0	0	0	0	0	1	3592	1625	57	5		5	CMYA5	5	79034827	Silent	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	44277154	79034827	101880433	33	1488											
ANKRD34B	340120	hgsc.bcm.edu	37	5	79854839	79854839	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr5:79854839G>T	ENST00000338682.3	-	5	1672	c.1000C>A	c.(1000-1002)Caa>Aaa	p.Q334K		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	334						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCAATGCATTGCTGATTTCCT	0.393																																																0													77	77	77					5																	79854839		2203	4300	6503	SO:0001583	missense	340120				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1000C>A	chr5.hg19:g.79854839G>T	ENSP00000339802:p.Gln334Lys		B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	hg19	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	5.706	0.314760	0.10789	.	.	ENSG00000189127	ENST00000338682	T	0.19806	2.12	5.74	3.95	0.45737	.	1.624130	0.04344	U	0.354534	T	0.21145	0.0509	L	0.44542	1.39	0.22571	N	0.998977	B	0.06786	0.001	B	0.04013	0.001	T	0.25572	-1.0128	10	0.33940	T	0.23	-0.2737	7.2927	0.26374	0.0775:0.0:0.5171:0.4055	.	334	A5PLL1	AN34B_HUMAN	K	334	ENSP00000339802:Q334K	ENSP00000339802:Q334K	Q	-	1	0	ANKRD34B	79890595	0.000000	0.05858	0.836000	0.33094	0.988000	0.76386	0.449000	0.21744	0.765000	0.33221	0.655000	0.94253	CAA		0.393	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		T	79854839	G	T	79854839	3	4	22	1	0	0	0	0	1	0	0	0	663	1328	46	4	548	4	ANKRD34B	5	79854839	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	820012	79854839	101060421	34	1489											
RHOBTB3	22836	hgsc.bcm.edu	37	5	95119657	95119657	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr5:95119657A>C	ENST00000379982.3	+	10	2121	c.1613A>C	c.(1612-1614)aAa>aCa	p.K538T	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.K169T|GLRX_ENST00000507605.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	538	Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GACCTGCTTAAAAAGGCCAAG	0.358																																																0													82	74	76					5																	95119657		2203	4300	6503	SO:0001583	missense	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1613A>C	chr5.hg19:g.95119657A>C	ENSP00000369318:p.Lys538Thr		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	hg19	CCDS4077.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	12.44|12.44|12.44	1.939487|1.939487|1.939487	0.34189|0.34189|0.34189	.|.|.	.|.|.	ENSG00000164292|ENSG00000164292|ENSG00000164292	ENST00000510313|ENST00000379982;ENST00000504179|ENST00000503737	T|T;T|.	0.80909|0.75154|.	-1.43|-0.16;-0.91|.	5.71|5.71|5.71	4.53|4.53|4.53	0.55603|0.55603|0.55603	.|.|.	0.165681|0.165681|.	0.51477|0.51477|.	D|D|.	0.000098|0.000098|.	T|T|.	0.50956|0.50956|.	0.1646|0.1646|.	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|.	.|0.27351|.	.|0.176|.	.|B|.	.|0.19148|.	.|0.024|.	T|T|.	0.42766|0.42766|.	-0.9432|-0.9432|.	8|10|.	0.14656|0.16420|.	T|T|.	0.56|0.52|.	-17.4539|-17.4539|-17.4539	8.0259|8.0259|8.0259	0.30436|0.30436|0.30436	0.7769:0.0:0.2231:0.0|0.7769:0.0:0.2231:0.0|0.7769:0.0:0.2231:0.0	.|.|.	.|538|.	.|O94955|.	.|RHBT3_HUMAN|.	Q|T|Y	120|538;169|40	ENSP00000424844:K120Q|ENSP00000369318:K538T;ENSP00000422360:K169T|.	ENSP00000424844:K120Q|ENSP00000369318:K538T|.	K|K|X	+|+|+	1|2|3	0|0|2	RHOBTB3|RHOBTB3|RHOBTB3	95145413|95145413|95145413	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.808000|0.808000|0.808000	0.45660|0.45660|0.45660	3.440000|3.440000|3.440000	0.52886|0.52886|0.52886	0.952000|0.952000|0.952000	0.37798|0.37798|0.37798	0.459000|0.459000|0.459000	0.35465|0.35465|0.35465	AAA|AAA|TAA		0.358	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		C	95119657	A	C	95119657	3	2	22	1	0	0	0	0	1	0	0	0	13341	14	1	5	1651	5	RHOBTB3	5	95119657	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	15264818	95119657	85795603	35	1490											
PCSK1	5122	hgsc.bcm.edu	37	5	95761539	95761539	+	Silent	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr5:95761539A>G	ENST00000311106.3	-	3	618	c.381T>C	c.(379-381)aaT>aaC	p.N127N	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.N80N	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	127					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACCATTGCTGATTCCACATGG	0.408																																																0													156	134	141					5																	95761539		2203	4300	6503	SO:0001819	synonymous_variant	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.381T>C	chr5.hg19:g.95761539A>G			B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	hg19	CCDS4081.1																																																																																				0.408	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		G	95761539	A	G	95761539	2	3	22	1	0	0	0	0	0	0	0	1	11602	330	12	3		3	PCSK1	5	95761539	Silent	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	641882	95761539	85153721	36	1491											
FEM1C	56929	hgsc.bcm.edu	37	5	114860326	114860326	+	Silent	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr5:114860326A>G	ENST00000274457.3	-	3	2094	c.1533T>C	c.(1531-1533)acT>acC	p.T511T		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	511					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TCAGTATTGCAGTAACTTGTA	0.453																																																0													186	175	179					5																	114860326		2202	4300	6502	SO:0001819	synonymous_variant	56929				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1533T>C	chr5.hg19:g.114860326A>G			B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP	ENST00000274457.3	hg19	CCDS4118.1																																																																																				0.453	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		G	114860326	A	G	114860326	2	3	22	1	0	0	0	0	0	0	0	1	5813	175	7	3		3	FEM1C	5	114860326	Silent	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	19098787	114860326	66054934	37	1492											
PDLIM4	8572	hgsc.bcm.edu	37	5	131606622	131606622	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr5:131606622delA	ENST00000253754.3	+	4	406	c.342delA	c.(340-342)acafs	p.T115fs	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Frame_Shift_Del_p.T115fs	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	115							zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGCCCAACAACCAGCAGGC	0.622																																																0													75	84	81					5																	131606622		2203	4300	6503	SO:0001589	frameshift_variant	8572			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.342delA	chr5.hg19:g.131606622delA	ENSP00000253754:p.Thr115fs		B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Frame_Shift_Del	DEL	ENST00000253754.3	hg19	CCDS4152.1																																																																																				0.622	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		-	131606622	A	-	131606622	7	5	22	1	0	1	0	1	0	0	0	0	11684	117	5	0	356	0	PDLIM4	5	131606622	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JS-01A-21D-A42J-10	16746296	131606622	49308638	38	1493											
NOTCH4	4855	hgsc.bcm.edu	37	6	32168924	32168937	+	Frame_Shift_Del	DEL	AGGGGCTGCGTTTG	AGGGGCTGCGTTTG	-	rs204987	byFrequency	TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	AGGGGCTGCGTTTG	AGGGGCTGCGTTTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr6:32168924_32168937delAGGGGCTGCGTTTG	ENST00000375023.3	-	22	4234_4247	c.4096_4109delCAAACGCAGCCCCT	c.(4096-4110)caaacgcagcccctgfs	p.QTQPL1366fs		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1366					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCCTTGCCCAGGGGCTGCGTTTGAGGGGCTGCT	0.598																																																0																																										SO:0001589	frameshift_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4096_4109delCAAACGCAGCCCCT	chr6.hg19:g.32168924_32168937delAGGGGCTGCGTTTG	ENSP00000364163:p.Gln1366fs		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Frame_Shift_Del	DEL	ENST00000375023.3	hg19	CCDS34420.1																																																																																				0.598	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			-	32168937	AGGGGCTGCGTTTG	-	32168924	7	5	22	1	0	1	0	1	0	0	0	0	10553	188	7	0	1938	0	NOTCH4	6	32168924	Frame_Shift_Del	DEL	AGGGGCTGCGTTTG	TCGA-2Z-A9JS-01A-21D-A42J-10		32168924	138946143	39	1494											
RGL2	5863	hgsc.bcm.edu	37	6	33262758	33262758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr6:33262758delC	ENST00000497454.1	-	10	1769	c.1274delG	c.(1273-1275)ggtfs	p.G427fs	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Frame_Shift_Del_p.G345fs|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	427	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACTCACCCCACCCCGGGAGCC	0.597																																																0													21	23	22					6																	33262758		2182	4275	6457	SO:0001589	frameshift_variant	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1274delG	chr6.hg19:g.33262758delC	ENSP00000420211:p.Gly427fs		B4DG72|Q5STK0|Q9Y3F3	Frame_Shift_Del	DEL	ENST00000497454.1	hg19	CCDS4774.1																																																																																				0.597	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			-	33262758	C	-	33262758	7	5	22	1	0	1	0	1	0	0	0	0	13283	507	18	0	1095	0	RGL2	6	33262758	Frame_Shift_Del	DEL	C	TCGA-2Z-A9JS-01A-21D-A42J-10	1093834	33262758	137852309	40	1495											
DAAM2	23500	hgsc.bcm.edu	37	6	39824224	39824224	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr6:39824224A>G	ENST00000398904.2	+	2	328	c.146A>G	c.(145-147)aAc>aGc	p.N49S	DAAM2_ENST00000274867.4_Missense_Mutation_p.N49S|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000405961.3_Missense_Mutation_p.N49S|DAAM2_ENST00000538976.1_Missense_Mutation_p.N49S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	49	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAGGAGCTCAACATCCGCTTT	0.607																																																0													40	43	42					6																	39824224		2034	4199	6233	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.146A>G	chr6.hg19:g.39824224A>G	ENSP00000381876:p.Asn49Ser		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	hg19	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189591	0.78789	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976;ENST00000405961	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.99	5.99	0.97316	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.096890	0.64402	D	0.000001	D	0.87014	0.6072	L	0.59436	1.845	0.44366	D	0.99726	B;B;P	0.52463	0.341;0.393;0.953	B;B;P	0.54759	0.116;0.185;0.76	D	0.85729	0.1330	10	0.31617	T	0.26	.	15.4718	0.75446	1.0:0.0:0.0:0.0	.	49;49;49	G5EA45;Q86T65;F2Z2Q2	.;DAAM2_HUMAN;.	S	49	ENSP00000274867:N49S;ENSP00000381876:N49S;ENSP00000437808:N49S;ENSP00000384637:N49S	ENSP00000274867:N49S	N	+	2	0	DAAM2	39932202	0.998000	0.40836	0.064000	0.19789	0.780000	0.44128	8.760000	0.91671	2.296000	0.77279	0.533000	0.62120	AAC		0.607	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			G	39824224	A	G	39824224	3	3	22	1	0	0	0	0	1	0	0	0	4218	43	2	3	148	3	DAAM2	6	39824224	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	6561466	39824224	131290843	41	1496											
SNX14	57231	hgsc.bcm.edu	37	6	86303311	86303311	+	Silent	SNP	G	G	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr6:86303311G>T	ENST00000314673.3	-	1	302	c.126C>A	c.(124-126)tcC>tcA	p.S42S	SNX14_ENST00000369627.2_Silent_p.S42S|SNX14_ENST00000513865.1_Silent_p.S42S|SNX14_ENST00000346348.3_Silent_p.S42S|RP11-321N4.5_ENST00000503906.1_Intron|SNX14_ENST00000505648.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	42					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TAAGAAGCAGGGAGGCGGCGC	0.672																																																0													28	26	27					6																	86303311		2202	4299	6501	SO:0001819	synonymous_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.126C>A	chr6.hg19:g.86303311G>T			B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	ENST00000314673.3	hg19	CCDS5004.1																																																																																				0.672	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		T	86303311	G	T	86303311	2	4	22	1	0	0	0	0	0	0	0	1	14891	1219	43	4		4	SNX14	6	86303311	Silent	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	46479087	86303311	84811756	42	1497											
NR2E1	7101	hgsc.bcm.edu	37	6	108492734	108492734	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr6:108492734G>A	ENST00000368986.4	+	2	806	c.98G>A	c.(97-99)tGc>tAc	p.C33Y	NR2E1_ENST00000368983.3_Missense_Mutation_p.C70Y	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	33					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GTCTACGCCTGCGACGGCTGC	0.562																																																0													120	131	127					6																	108492734		2203	4300	6503	SO:0001583	missense	7101			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.98G>A	chr6.hg19:g.108492734G>A	ENSP00000357982:p.Cys33Tyr		Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	hg19	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750777	0.89753	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.99828	-6.99;-6.99	5.39	5.39	0.77823	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.084915	0.85682	D	0.000000	D	0.99923	0.9964	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95984	0.8980	10	0.87932	D	0	.	18.7646	0.91866	0.0:0.0:1.0:0.0	.	33	Q9Y466	NR2E1_HUMAN	Y	33;70	ENSP00000357982:C33Y;ENSP00000357979:C70Y	ENSP00000357979:C70Y	C	+	2	0	NR2E1	108599427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.542000	0.85734	0.561000	0.74099	TGC		0.562	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			A	108492734	G	A	108492734	3	1	22	1	0	0	0	0	1	0	0	0	10627	1319	46	2	104	2	NR2E1	6	108492734	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	22189423	108492734	62622333	43	1498											
THEMIS	387357	hgsc.bcm.edu	37	6	128134425	128134425	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr6:128134425C>T	ENST00000368248.2	-	4	1509	c.1361G>A	c.(1360-1362)cGt>cAt	p.R454H	THEMIS_ENST00000537166.1_Missense_Mutation_p.R419H|THEMIS_ENST00000368250.1_Missense_Mutation_p.R375H|THEMIS_ENST00000543064.1_Missense_Mutation_p.R454H	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	454	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GAAGGGCAAACGGAACTGTTT	0.483																																																0													86	90	88					6																	128134425		2203	4300	6503	SO:0001583	missense	387357			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1361G>A	chr6.hg19:g.128134425C>T	ENSP00000357231:p.Arg454His		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	hg19	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166588	0.21621	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.69	-4.82	0.03171	.	0.926991	0.09311	N	0.819555	T	0.02649	0.0080	N	0.12182	0.205	0.09310	N	1	B;B	0.16166	0.016;0.004	B;B	0.08055	0.003;0.003	T	0.47315	-0.9127	10	0.48119	T	0.1	1.4237	9.9298	0.41514	0.0:0.5558:0.1306:0.3135	.	454;454	F5H1J9;Q8N1K5	.;THMS1_HUMAN	H	375;454;454;419	ENSP00000357233:R375H;ENSP00000439594:R454H;ENSP00000357231:R454H;ENSP00000439863:R419H	ENSP00000357231:R454H	R	-	2	0	THEMIS	128176118	0.001000	0.12720	0.051000	0.19133	0.848000	0.48234	-2.321000	0.01119	-0.481000	0.06792	0.563000	0.77884	CGT		0.483	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		T	128134425	C	T	128134425	3	4	22	1	0	0	0	0	1	0	0	0	15865	536	19	1	697	1	THEMIS	6	128134425	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	19641691	128134425	42980642	44	1499											
ADAP1	11033	hgsc.bcm.edu	37	7	959664	959664	+	Missense_Mutation	SNP	C	C	T	rs373846581		TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr7:959664C>T	ENST00000265846.5	-	4	548	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	ADAP1_ENST00000539900.1_Missense_Mutation_p.R121Q|ADAP1_ENST00000449296.2_Missense_Mutation_p.R38Q|ADAP1_ENST00000463358.1_5'UTR	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	110	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R110Q(1)		endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTACTTGGCCCGGATCCACTG	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		8018	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						C	GLN/ARG	0,4404		0,0,2202	38	35	36		329	4.5	1	7		36	1,8591	1.2+/-3.3	0,1,4295	no	missense	ADAP1	NM_006869.2	43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	110/375	959664	1,12995	2202	4296	6498	SO:0001583	missense	11033			AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16486	protein-coding gene	gene with protein product		608114	"centaurin, alpha 1"	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.329G>A	chr7.hg19:g.959664C>T	ENSP00000265846:p.Arg110Gln		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	ENST00000265846.5	hg19	CCDS5318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.084852|5.084852	0.94100|0.94100	0.0|0.0	1.16E-4|1.16E-4	ENSG00000105963|ENSG00000105963	ENST00000446141;ENST00000437486;ENST00000453823|ENST00000265846;ENST00000449296;ENST00000538188;ENST00000539900;ENST00000435943	.|T;T;T;T	.|0.47528	.|0.84;0.85;0.84;0.84	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|0.112189	.|0.56097	.|D	.|0.000024	T|T	0.68796|0.68796	0.3040|0.3040	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.70716	.|0.969;0.97	T|T	0.74562|0.74562	-0.3624|-0.3624	5|10	.|0.87932	.|D	.|0	-33.1793|-33.1793	14.5163|14.5163	0.67821|0.67821	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|15;110	.|B4DUZ7;O75689	.|.;ADAP1_HUMAN	R|Q	93;44;53|110;38;15;121;97	.|ENSP00000265846:R110Q;ENSP00000407267:R38Q;ENSP00000442682:R121Q;ENSP00000394973:R97Q	.|ENSP00000265846:R110Q	G|R	-|-	1|2	0|0	ADAP1|ADAP1	926190|926190	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.816000|0.816000	0.46133|0.46133	4.105000|4.105000	0.57797|0.57797	2.215000|2.215000	0.71742|0.71742	0.549000|0.549000	0.68633|0.68633	GGG|CGG		0.682	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869		T	959664	C	T	959664	3	4	22	1	0	0	0	0	1	0	0	0	279	652	23	1	827	1	ADAP1	7	959664	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10		959664	158178999	45	1500											
FBXL18	80028	hgsc.bcm.edu	37	7	5541280	5541280	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr7:5541280G>A	ENST00000382368.3	-	3	743	c.620C>T	c.(619-621)aCg>aTg	p.T207M	FBXL18_ENST00000453700.3_Missense_Mutation_p.T207M	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	207									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCCCTCGCGCGTGCGGTCCAG	0.657																																																0													23	28	26					7																	5541280		2059	4209	6268	SO:0001583	missense	80028			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.620C>T	chr7.hg19:g.5541280G>A	ENSP00000371805:p.Thr207Met		Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	hg19	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.94|19.94	3.920520|3.920520	0.73213|0.73213	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000382368;ENST00000312577;ENST00000453700	.|T;T	.|0.51071	.|0.75;0.72	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.159486	.|0.53938	.|D	.|0.000047	T|T	0.54382|0.54382	0.1855|0.1855	N|N	0.19112|0.19112	0.55|0.55	0.47476|0.47476	D|D	0.999437|0.999437	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.69824	.|0.966;0.942	T|T	0.53760|0.53760	-0.8393|-0.8393	5|10	.|0.35671	.|T	.|0.21	.|.	18.1629|18.1629	0.89716|0.89716	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|207;207	.|F5H4Z4;Q96ME1-4	.|.;.	C|M	91|207	.|ENSP00000371805:T207M;ENSP00000444797:T207M	.|ENSP00000311990:T207M	R|T	-|-	1|2	0|0	FBXL18|FBXL18	5507806|5507806	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.898000|0.898000	0.52572|0.52572	5.561000|5.561000	0.67339|0.67339	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.657	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		A	5541280	G	A	5541280	3	1	22	1	0	0	0	0	1	0	0	0	5716	1145	40	1	1548	1	FBXL18	7	5541280	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	4581616	5541280	153597383	46	1501											
SP4	6671	hgsc.bcm.edu	37	7	21468306	21468306	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr7:21468306G>A	ENST00000222584.3	+	2	237	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	7	Poly-Glu.				regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCAGAAGAAGGAGGAGGAGGA	0.512																																																0													20	20	20					7																	21468306		2171	4251	6422	SO:0001583	missense	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.19G>A	chr7.hg19:g.21468306G>A	ENSP00000222584:p.Glu7Lys		O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	hg19	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318989	0.41096	.	.	ENSG00000105866	ENST00000222584;ENST00000446800	T	0.09911	2.93	4.5	4.5	0.54988	.	0.061123	0.64402	N	0.000005	T	0.10937	0.0267	L	0.36672	1.1	0.44142	D	0.996934	P	0.34587	0.458	B	0.39152	0.292	T	0.20907	-1.0261	10	0.23891	T	0.37	.	12.5742	0.56355	0.0:0.0:1.0:0.0	.	7	Q02446	SP4_HUMAN	K	7	ENSP00000222584:E7K	ENSP00000222584:E7K	E	+	1	0	SP4	21434831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.555000	0.73928	2.345000	0.79718	0.563000	0.77884	GAG		0.512	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		A	21468306	G	A	21468306	3	1	22	1	0	0	0	0	1	0	0	0	14972	1175	41	2	25	2	SP4	7	21468306	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	15927026	21468306	137670357	47	1502											
CPVL	54504	hgsc.bcm.edu	37	7	29135788	29135788	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr7:29135788G>T	ENST00000409850.1	-	8	980	c.334C>A	c.(334-336)Ccg>Acg	p.P112T	CPVL_ENST00000265394.5_Missense_Mutation_p.P112T|CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Missense_Mutation_p.P112T			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	112						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GAACCTCCCGGCCCACCCTGT	0.468																																																0													138	129	132					7																	29135788		2203	4300	6503	SO:0001583	missense	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.334C>A	chr7.hg19:g.29135788G>T	ENSP00000387164:p.Pro112Thr		A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	hg19	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415714	0.62511	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000448959;ENST00000447426	D;D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62;-5.62	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97328	0.9948	10	0.87932	D	0	0.0175	13.4872	0.61373	0.0773:0.0:0.9227:0.0	.	112	Q9H3G5	CPVL_HUMAN	T	112;112;112;42;42	ENSP00000265394:P112T;ENSP00000379572:P112T;ENSP00000387164:P112T;ENSP00000409036:P42T;ENSP00000395690:P42T	ENSP00000265394:P112T	P	-	1	0	CPVL	29102313	1.000000	0.71417	0.937000	0.37676	0.458000	0.32498	6.755000	0.74914	2.519000	0.84933	0.491000	0.48974	CCG		0.468	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		T	29135788	G	T	29135788	3	4	22	1	0	0	0	0	1	0	0	0	3837	1203	42	4	1136	4	CPVL	7	29135788	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	7667482	29135788	130002875	48	1503											
POLD2	5425	hgsc.bcm.edu	37	7	44156052	44156052	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr7:44156052C>T	ENST00000406581.2	-	8	1487	c.838G>A	c.(838-840)Gat>Aat	p.D280N	POLD2_ENST00000223361.3_Missense_Mutation_p.D280N|POLD2_ENST00000452185.1_Missense_Mutation_p.D280N	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	280					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						AGGATCTCATCCAGCATCTTA	0.597																																																0													59	47	51					7																	44156052		2203	4299	6502	SO:0001583	missense	5425				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.838G>A	chr7.hg19:g.44156052C>T	ENSP00000386105:p.Asp280Asn		A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	hg19	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139271	0.94560	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436400;ENST00000436844	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.84	5.84	0.93424	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.70716	0.873;0.97	T	0.78298	-0.2258	10	0.66056	D	0.02	-13.0784	14.3287	0.66537	0.0:0.9273:0.0:0.0726	.	280;280	P49005;F8W8R3	DPOD2_HUMAN;.	N	280;280;280;20;198	ENSP00000386105:D280N;ENSP00000223361:D280N;ENSP00000395231:D280N;ENSP00000416203:D198N	ENSP00000223361:D280N	D	-	1	0	POLD2	44122577	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.355000	0.59424	2.778000	0.95560	0.655000	0.94253	GAT		0.597	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		T	44156052	C	T	44156052	3	4	22	1	0	0	0	0	1	0	0	0	12193	855	30	2	591	2	POLD2	7	44156052	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	15020264	44156052	114982611	49	1504											
ELN	2006	hgsc.bcm.edu	37	7	73470631	73470631	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr7:73470631delT	ENST00000252034.7	+	20	1580	c.1181delT	c.(1180-1182)attfs	p.I394fs	ELN_ENST00000380553.4_Frame_Shift_Del_p.I277fs|ELN_ENST00000380575.4_Frame_Shift_Del_p.I384fs|ELN_ENST00000414324.1_Frame_Shift_Del_p.I389fs|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000320399.6_Frame_Shift_Del_p.I394fs|ELN_ENST00000445912.1_Frame_Shift_Del_p.I394fs|ELN_ENST00000357036.5_Frame_Shift_Del_p.I399fs|ELN_ENST00000380562.4_Frame_Shift_Del_p.I394fs|ELN_ENST00000320492.7_Frame_Shift_Del_p.I358fs|ELN_ENST00000380584.4_Frame_Shift_Del_p.I380fs|ELN_ENST00000380576.5_Frame_Shift_Del_p.I394fs|ELN_ENST00000429192.1_Frame_Shift_Del_p.I399fs|ELN_ENST00000358929.4_Frame_Shift_Del_p.I394fs|ELN_ENST00000458204.1_Frame_Shift_Del_p.I384fs	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	394	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GTTGGAGGCATTCCTACTTAC	0.627			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																Dom	yes		7	7q11.23	2006	elastin	yes	L	0													97	104	102					7																	73470631		2203	4300	6503	SO:0001589	frameshift_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1181delT	chr7.hg19:g.73470631delT	ENSP00000252034:p.Ile394fs		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Frame_Shift_Del	DEL	ENST00000252034.7	hg19	CCDS5562.2																																																																																				0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		-	73470631	T	-	73470631	7	5	22	1	0	1	0	1	0	0	0	0	5073	1493	52	0	1274	0	ELN	7	73470631	Frame_Shift_Del	DEL	T	TCGA-2Z-A9JS-01A-21D-A42J-10	29314579	73470631	85668032	50	1505											
PRKAR2B	5577	hgsc.bcm.edu	37	7	106685477	106685477	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr7:106685477A>C	ENST00000265717.4	+	1	384	c.125A>C	c.(124-126)gAg>gCg	p.E42A		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	42	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTGCAGCAGGAGAACGAGCGC	0.716																																																0													5	6	6					7																	106685477		2082	4111	6193	SO:0001583	missense	5577				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.125A>C	chr7.hg19:g.106685477A>C	ENSP00000265717:p.Glu42Ala		A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	hg19	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381480	0.24944	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	T	0.79454	-1.27	3.91	3.91	0.45181	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (3);	1.313690	0.04903	N	0.451690	T	0.53174	0.1780	N	0.01250	-0.93	0.35233	D	0.777118	B	0.02656	0.0	B	0.14023	0.01	T	0.49093	-0.8975	10	0.20519	T	0.43	-13.5013	9.0772	0.36529	0.8148:0.1852:0.0:0.0	.	42	P31323	KAP3_HUMAN	A	42	ENSP00000265717:E42A	ENSP00000265717:E42A	E	+	2	0	PRKAR2B	106472713	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.293000	0.43558	1.652000	0.50683	0.374000	0.22700	GAG		0.716	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			C	106685477	A	C	106685477	3	2	22	1	0	0	0	0	1	0	0	0	12511	304	11	5	127	5	PRKAR2B	7	106685477	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	33214846	106685477	52453186	51	1506											
PXDNL	137902	hgsc.bcm.edu	37	8	52412274	52412274	+	Frame_Shift_Del	DEL	A	A	-	rs372013787		TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr8:52412274delA	ENST00000356297.4	-	5	537	c.437delT	c.(436-438)ctgfs	p.L146fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.L146fs	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	146					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCTAATCTCAGAAGGTCTCC	0.433																																																0													182	175	177					8																	52412274		1869	4105	5974	SO:0001589	frameshift_variant	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.437delT	chr8.hg19:g.52412274delA	ENSP00000348645:p.Leu146fs		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Frame_Shift_Del	DEL	ENST00000356297.4	hg19	CCDS47855.1																																																																																				0.433	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		-	52412274	A	-	52412274	7	5	22	1	0	1	0	1	0	0	0	0	12854	188	7	0	4030	0	PXDNL	8	52412274	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JS-01A-21D-A42J-10		52412274	93951748	52	1507											
C9orf85	138241	hgsc.bcm.edu	37	9	74586475	74586475	+	Silent	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr9:74586475A>G	ENST00000377031.3	+	3	454	c.264A>G	c.(262-264)ccA>ccG	p.P88P	C9orf85_ENST00000486911.2_Intron|C9orf85_ENST00000334731.2_Silent_p.P88P			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	88										kidney(2)|large_intestine(1)|lung(4)	7						TGTGCAGGCCATGTGCCTGTG	0.303																																																0													145	134	137					9																	74586475		2203	4300	6503	SO:0001819	synonymous_variant	138241			BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.264A>G	chr9.hg19:g.74586475A>G			Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Silent	SNP	ENST00000377031.3	hg19																																																																																					0.303	C9orf85-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052628.2	NM_182505		G	74586475	A	G	74586475	2	3	22	1	0	0	0	0	0	0	0	1	2503	204	8	3		3	C9orf85	9	74586475	Silent	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10		74586475	66626956	53	1508											
SVEP1	79987	hgsc.bcm.edu	37	9	113212406	113212406	+	Missense_Mutation	SNP	C	C	T	rs376449068	byFrequency	TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr9:113212406C>T	ENST00000401783.2	-	24	4372	c.4036G>A	c.(4036-4038)Gtc>Atc	p.V1346I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V1323I|SVEP1_ENST00000302728.8_Missense_Mutation_p.V1346I|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1346	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CACTCATCGACGTTCTTTCCA	0.453													C|||	2	0.000399361	0.0	0.0	5008	,	,		19558	0.0		0.0	False		,,,				2504	0.002															0								C	ILE/VAL	0,3788		0,0,1894	259	241	247		4036	-10.9	0	9		247	2,8236		0,2,4117	no	missense	SVEP1	NM_153366.3	29	0,2,6011	TT,TC,CC		0.0243,0.0,0.0166	benign	1346/3572	113212406	2,12024	1894	4119	6013	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4036G>A	chr9.hg19:g.113212406C>T	ENSP00000384917:p.Val1346Ile		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	4.180	0.032029	0.08101	0.0	2.43E-4	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.87103	-2.21;-2.21;-2.21	5.44	-10.9	0.00192	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	1.010870	0.07909	N	0.974027	T	0.56232	0.1971	N	0.03194	-0.395	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.04013	0.001;0.001	T	0.54918	-0.8221	10	0.02654	T	1	.	2.8122	0.05445	0.1765:0.3925:0.1795:0.2514	.	1346;1346	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	I	1346;1323;1346	ENSP00000384917:V1346I;ENSP00000363593:V1323I;ENSP00000304118:V1346I	ENSP00000304118:V1346I	V	-	1	0	SVEP1	112252227	0.078000	0.21339	0.000000	0.03702	0.198000	0.23893	-0.651000	0.05372	-1.719000	0.01382	-0.482000	0.04802	GTC		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113212406	C	T	113212406	3	4	22	1	0	0	0	0	1	0	0	0	15425	536	19	1	6779	1	SVEP1	9	113212406	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	38625931	113212406	28001025	54	1509											
RAB14	51552	hgsc.bcm.edu	37	9	123954485	123954485	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr9:123954485T>A	ENST00000373840.4	-	3	307	c.70A>T	c.(70-72)Aaa>Taa	p.K24*		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	24					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGCAAGATTTTCCTACTCCC	0.303																																																0													141	143	142					9																	123954485		2203	4292	6495	SO:0001587	stop_gained	51552			AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"RAB, member RAS oncogene"	16524	protein-coding gene	gene with protein product	"F protein-binding protein 1", "bA165P4.3 (member RAS oncogene family)", "small GTP binding protein RAB14"	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.70A>T	chr9.hg19:g.123954485T>A	ENSP00000362946:p.Lys24*		B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Nonsense_Mutation	SNP	ENST00000373840.4	hg19	CCDS6827.1	.	.	.	.	.	.	.	.	.	.	T	38	6.999408	0.97990	.	.	ENSG00000119396	ENST00000373840;ENST00000451303	.	.	.	5.83	5.83	0.93111	.	0.089556	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3812	0.74658	0.0:0.0:0.0:1.0	.	.	.	.	X	24	.	ENSP00000362946:K24X	K	-	1	0	RAB14	122994306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.870000	0.87175	2.216000	0.71823	0.460000	0.39030	AAA		0.303	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	NM_016322		A	123954485	T	A	123954485	4	1	22	1	0	0	0	0	0	1	0	0	12906	1850	64	5	601	5	RAB14	9	123954485	Nonsense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	10742079	123954485	17258946	55	1510											
COL5A1	1289	hgsc.bcm.edu	37	9	137694764	137694764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr9:137694764G>T	ENST00000371817.3	+	39	3451	c.3037G>T	c.(3037-3039)Gag>Tag	p.E1013*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1013	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAATGGGTGAGCGTGGCCA	0.597																																																0													24	28	27					9																	137694764		2198	4298	6496	SO:0001587	stop_gained	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3037G>T	chr9.hg19:g.137694764G>T	ENSP00000360882:p.Glu1013*		Q15094|Q5SUX4	Nonsense_Mutation	SNP	ENST00000371817.3	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	46	12.371230	0.99661	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.39	4.39	0.52855	.	0.135437	0.48767	U	0.000174	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.3375	0.87286	0.0:0.0:1.0:0.0	.	.	.	.	X	1013	.	ENSP00000360882:E1013X	E	+	1	0	COL5A1	136834585	1.000000	0.71417	0.942000	0.38095	0.908000	0.53690	9.579000	0.98204	2.158000	0.67659	0.551000	0.68910	GAG		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		T	137694764	G	T	137694764	4	4	22	1	0	0	0	0	0	1	0	0	3698	1291	45	4	3191	4	COL5A1	9	137694764	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	13740279	137694764	3518667	56	1511											
OLFM1	10439	hgsc.bcm.edu	37	9	138011750	138011750	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr9:138011750C>T	ENST00000371793.3	+	6	1435	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	OLFM1_ENST00000252854.4_Missense_Mutation_p.T377M|OLFM1_ENST00000371796.3_Missense_Mutation_p.T368M	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	395	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ACCTGGAACACGAGCTACCCC	0.632																																																0													70	59	63					9																	138011750		2203	4300	6503	SO:0001583	missense	10439			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1184C>T	chr9.hg19:g.138011750C>T	ENSP00000360858:p.Thr395Met		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	hg19		.	.	.	.	.	.	.	.	.	.	C	23.8	4.459036	0.84317	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.92397	-3.03;-3.03;-3.03	4.7	4.7	0.59300	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.048581	0.85682	D	0.000000	D	0.97349	0.9133	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98883	1.0770	10	0.87932	D	0	.	17.6361	0.88122	0.0:1.0:0.0:0.0	.	395;377	Q99784;Q6IMJ8	NOE1_HUMAN;.	M	377;368;395	ENSP00000252854:T377M;ENSP00000360861:T368M;ENSP00000360858:T395M	ENSP00000252854:T377M	T	+	2	0	OLFM1	137151571	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.590000	0.82653	2.166000	0.68216	0.491000	0.48974	ACG		0.632	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		T	138011750	C	T	138011750	3	4	22	1	0	0	0	0	1	0	0	0	10854	536	19	1	1162	1	OLFM1	9	138011750	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	316986	138011750	3201681	57	1512											
INPP5E	56623	hgsc.bcm.edu	37	9	139333176	139333176	+	Missense_Mutation	SNP	G	G	T	rs536052945		TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr9:139333176G>T	ENST00000371712.3	-	1	1098	c.696C>A	c.(694-696)agC>agA	p.S232R	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGCCCAGGCTGCTGTGGGCCC	0.687																																																0													9	12	11					9																	139333176		2166	4259	6425	SO:0001583	missense	56623			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.696C>A	chr9.hg19:g.139333176G>T	ENSP00000360777:p.Ser232Arg		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	hg19	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134472	0.37630	.	.	ENSG00000148384	ENST00000371712	D	0.97710	-4.5	3.8	0.925	0.19424	.	0.453580	0.22328	N	0.061505	D	0.94032	0.8088	L	0.43923	1.385	0.35619	D	0.809293	B;B	0.31318	0.319;0.132	B;B	0.30105	0.111;0.017	D	0.90931	0.4790	10	0.29301	T	0.29	-36.6616	8.7927	0.34861	0.274:0.0:0.726:0.0	.	232;232	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	R	232	ENSP00000360777:S232R	ENSP00000360777:S232R	S	-	3	2	INPP5E	138452997	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	2.991000	0.49409	0.396000	0.25283	-0.251000	0.11542	AGC		0.687	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		T	139333176	G	T	139333176	3	4	22	1	0	0	0	0	1	0	0	0	7759	1310	46	4	1278	4	INPP5E	9	139333176	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	1321426	139333176	1880255	58	1513											
DIP2C	22982	hgsc.bcm.edu	37	10	387190	387190	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr10:387190A>G	ENST00000280886.6	-	29	3620	c.3533T>C	c.(3532-3534)aTc>aCc	p.I1178T		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1178						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCCAGGCAGATGGCCACTTC	0.483																																																0													156	129	138					10																	387190		2203	4300	6503	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3533T>C	chr10.hg19:g.387190A>G	ENSP00000280886:p.Ile1178Thr		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	hg19	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656310	0.67586	.	.	ENSG00000151240	ENST00000280886;ENST00000535541;ENST00000381503	T	0.39787	1.06	5.53	5.53	0.82687	AMP-dependent synthetase/ligase (1);	0.048817	0.85682	D	0.000000	T	0.42944	0.1225	L	0.47716	1.5	0.80722	D	1	P	0.37015	0.578	P	0.46208	0.507	T	0.25293	-1.0136	10	0.02654	T	1	-37.9788	15.6619	0.77193	1.0:0.0:0.0:0.0	.	1178	Q9Y2E4	DIP2C_HUMAN	T	1178;103;27	ENSP00000280886:I1178T	ENSP00000280886:I1178T	I	-	2	0	DIP2C	377190	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.287000	0.95975	2.106000	0.64143	0.528000	0.53228	ATC		0.483	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		G	387190	A	G	387190	3	3	22	1	0	0	0	0	1	0	0	0	4531	333	12	3	1173	3	DIP2C	10	387190	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10		387190	135147557	59	1514											
DIP2C	22982	hgsc.bcm.edu	37	10	390824	390826	+	Missense_Mutation	TNP	GCA	GCA	ATG			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G|C|A	G|C|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr10:390824_390826GCA>ATG	ENST00000280886.6	-	28	3463_3465	c.3376_3378TGC>CAT	c.(3376-3378)TGC>CAT	p.C1126H		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1126						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGCAAGGTTTGCAGATCTGGGCA	0.567																																																0																																										SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3376_3378TGC>CAT	chr10.hg19:g.390824GCA>ATG	ENSP00000280886:p.Cys1126His		B4DPI5|Q5SS78	Silent|Missense_Mutation|Missense_Mutation	SNP	ENST00000280886.6	hg19	CCDS7054.1																																																																																				0.567	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		ATG	390826	GCA	ATG	390824	3	1	22	1	0	0	0	0	1	0	0	0	4531	1311	46	2	1332	2	DIP2C	10	390824	Missense_Mutation	TNP	GCA	TCGA-2Z-A9JS-01A-21D-A42J-10	3634	390824	135143923	60	1515											
BICC1	80114	hgsc.bcm.edu	37	10	60560020	60560020	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr10:60560020C>A	ENST00000373886.3	+	13	1796	c.1792C>A	c.(1792-1794)Cac>Aac	p.H598N	BICC1_ENST00000263103.1_Missense_Mutation_p.H224N	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	598					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GAGTGCAAATCACGGGGATCC	0.403																																																0													48	45	46					10																	60560020		2203	4300	6503	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1792C>A	chr10.hg19:g.60560020C>A	ENSP00000362993:p.His598Asn			Missense_Mutation	SNP	ENST00000373886.3	hg19	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	8.488	0.861398	0.17178	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.48522	1.68;0.81	6.02	6.02	0.97574	.	0.099783	0.64402	D	0.000001	T	0.49864	0.1582	L	0.46157	1.445	0.45806	D	0.99868	D;D	0.55385	0.971;0.971	P;B	0.45712	0.491;0.265	T	0.36138	-0.9760	10	0.33141	T	0.24	-15.3338	20.5407	0.99260	0.0:1.0:0.0:0.0	.	518;598	E7EU62;Q9H694	.;BICC1_HUMAN	N	598;224	ENSP00000362993:H598N;ENSP00000263103:H224N	ENSP00000263103:H224N	H	+	1	0	BICC1	60230026	1.000000	0.71417	0.647000	0.29507	0.124000	0.20399	5.335000	0.65929	2.865000	0.98341	0.655000	0.94253	CAC		0.403	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		A	60560020	C	A	60560020	3	1	22	1	0	0	0	0	1	0	0	0	1427	826	29	4	1842	4	BICC1	10	60560020	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	60169196	60560020	74974727	61	1516											
ANK3	288	hgsc.bcm.edu	37	10	61824009	61824009	+	Silent	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr10:61824009G>A	ENST00000280772.2	-	39	12548	c.12357C>T	c.(12355-12357)atC>atT	p.I4119I	ANK3_ENST00000503366.1_Silent_p.I1507I|ANK3_ENST00000373827.2_Silent_p.I1500I|ANK3_ENST00000355288.2_Silent_p.I640I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4119	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTATTTGATTGATTTCATCCA	0.328																																																0													76	80	78					10																	61824009		2203	4298	6501	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12357C>T	chr10.hg19:g.61824009G>A			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087582	0.20390	.	.	ENSG00000151150	ENST00000514197;ENST00000511043	.	.	.	5.4	4.5	0.54988	.	.	.	.	.	T	0.54631	0.1870	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52888	-0.8515	4	.	.	.	.	5.1251	0.14880	0.1458:0.0:0.523:0.3312	.	.	.	.	L	13;66	.	.	S	-	2	0	ANK3	61494015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.138000	0.42140	1.273000	0.44346	-0.152000	0.13540	TCA		0.328	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		A	61824009	G	A	61824009	2	1	22	1	0	0	0	0	0	0	0	1	622	1280	45	2		2	ANK3	10	61824009	Silent	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	1263989	61824009	73710738	62	1517											
STOX1	219736	hgsc.bcm.edu	37	10	70652348	70652348	+	Silent	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr10:70652348A>G	ENST00000298596.6	+	4	2909	c.2826A>G	c.(2824-2826)acA>acG	p.T942T	STOX1_ENST00000399165.4_Missense_Mutation_p.T223A|STOX1_ENST00000421961.2_Silent_p.T832T|STOX1_ENST00000399162.2_Missense_Mutation_p.H156R|STOX1_ENST00000399169.4_Silent_p.T942T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	942						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TCTTTAGGACACAGAGTCTGG	0.353																																																0													81	79	80					10																	70652348		1836	4096	5932	SO:0001819	synonymous_variant	219736			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2826A>G	chr10.hg19:g.70652348A>G			A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	hg19	CCDS41535.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.69|13.69	2.313014|2.313014	0.40895|0.40895	.|.	.|.	ENSG00000165730|ENSG00000165730	ENST00000399162|ENST00000399165	D|D	0.82167|0.82255	-1.58|-1.59	5.81|5.81	1.94|1.94	0.25998|0.25998	.|.	.|0.053934	.|0.64402	.|D	.|0.000001	T|T	0.58047|0.58047	0.2095|0.2095	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|B	0.09022|0.11235	0.002|0.004	B|B	0.12156|0.09377	0.007|0.004	T|T	0.45542|0.45542	-0.9254|-0.9254	8|9	0.06891|0.07030	T|T	0.86|0.85	.|.	2.5133|2.5133	0.04662|0.04662	0.5545:0.199:0.1391:0.1075|0.5545:0.199:0.1391:0.1075	.|.	156|223	Q6ZVD7-3|Q6ZVD7-2	.|.	R|A	156|223	ENSP00000382115:H156R|ENSP00000382118:T223A	ENSP00000382115:H156R|ENSP00000382118:T223A	H|T	+|+	2|1	0|0	STOX1|STOX1	70322354|70322354	0.968000|0.968000	0.33430|0.33430	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.092000|0.092000	0.15066|0.15066	1.035000|1.035000	0.39972|0.39972	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.353	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		G	70652348	A	G	70652348	2	3	22	1	0	0	0	0	0	0	0	1	15324	159	6	3		3	STOX1	10	70652348	Silent	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	8828339	70652348	64882399	63	1518											
BTAF1	9044	hgsc.bcm.edu	37	10	93722390	93722390	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr10:93722390delA	ENST00000265990.6	+	12	1667	c.1359delA	c.(1357-1359)tcafs	p.S453fs	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	453					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTGCAGCATCATTAGTGCCTG	0.333																																																0													59	57	57					10																	93722390		2203	4300	6503	SO:0001589	frameshift_variant	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1359delA	chr10.hg19:g.93722390delA	ENSP00000265990:p.Ser453fs		B4E0W6|O43578	Frame_Shift_Del	DEL	ENST00000265990.6	hg19	CCDS7419.1																																																																																				0.333	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		-	93722390	A	-	93722390	7	5	22	1	0	1	0	1	0	0	0	0	1538	204	8	0	1405	0	BTAF1	10	93722390	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JS-01A-21D-A42J-10	23070042	93722390	41812357	64	1519											
FAM178A	55719	hgsc.bcm.edu	37	10	102719193	102719193	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr10:102719193C>G	ENST00000238961.4	+	19	3968	c.3426C>G	c.(3424-3426)gaC>gaG	p.D1142E	FAM178A_ENST00000370269.3_Missense_Mutation_p.D1142E	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1142						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.D1142E(1)									AGGTGAAAGACTTGGTCGCCA	0.358																																																1	Substitution - Missense(1)	kidney(1)											188	196	193					10																	102719193		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3426C>G	chr10.hg19:g.102719193C>G	ENSP00000238961:p.Asp1142Glu		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	hg19	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382986	0.82792	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.40756	1.03;1.02	5.98	4.99	0.66335	.	0.245484	0.40064	N	0.001183	T	0.50137	0.1598	M	0.62723	1.935	0.44816	D	0.997823	D;D	0.65815	0.991;0.995	P;P	0.55713	0.782;0.782	T	0.52449	-0.8574	10	0.72032	D	0.01	-12.5499	7.0266	0.24944	0.0:0.8615:0.0:0.1385	.	1142;1142	Q8IX21;B1AL17	F178A_HUMAN;.	E	1142	ENSP00000238961:D1142E;ENSP00000359292:D1142E	ENSP00000238961:D1142E	D	+	3	2	FAM178A	102709183	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.744000	0.26245	2.838000	0.97847	0.591000	0.81541	GAC		0.358	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			G	102719193	C	G	102719193	3	3	22	1	0	0	0	0	1	0	0	0	5505	564	20	4	3500	4	FAM178A	10	102719193	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	8996803	102719193	32815554	65	1520											
DPCD	25911	hgsc.bcm.edu	37	10	103360566	103360566	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr10:103360566C>T	ENST00000370151.4	+	3	266	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	MIR3158-1_ENST00000583596.1_RNA|DPCD_ENST00000370147.1_Missense_Mutation_p.P73S|DPCD_ENST00000370148.2_Missense_Mutation_p.P73S	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	73					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						AGACCCAGCGCCCCTAGGAGC	0.587																																																0													73	72	72					10																	103360566		2203	4300	6503	SO:0001583	missense	25911				CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.217C>T	chr10.hg19:g.103360566C>T	ENSP00000359170:p.Pro73Ser		A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Missense_Mutation	SNP	ENST00000370151.4	hg19	CCDS7514.1	.	.	.	.	.	.	.	.	.	.	C	8.646	0.897084	0.17686	.	.	ENSG00000166171	ENST00000370151;ENST00000370147;ENST00000370148;ENST00000370149;ENST00000434727	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.96	-1.19	0.09585	.	0.947984	0.08934	N	0.872625	T	0.16514	0.0397	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33266	-0.9875	10	0.11485	T	0.65	-20.1397	0.9631	0.01399	0.2025:0.2982:0.2681:0.2312	.	73	Q9BVM2	DPCD_HUMAN	S	73;73;73;38;37	ENSP00000359170:P73S;ENSP00000359166:P73S;ENSP00000359167:P73S;ENSP00000403505:P37S	ENSP00000359166:P73S	P	+	1	0	DPCD	103350556	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-1.903000	0.01594	0.094000	0.17404	0.655000	0.94253	CCC		0.587	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049958.2			T	103360566	C	T	103360566	3	4	22	1	0	0	0	0	1	0	0	0	4713	739	26	2	227	2	DPCD	10	103360566	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	641373	103360566	32174181	66	1521											
DNHD1	144132	hgsc.bcm.edu	37	11	6589765	6589765	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr11:6589765T>A	ENST00000527990.2	+	36	12620	c.12620T>A	c.(12619-12621)cTt>cAt	p.L4207H	DNHD1_ENST00000254579.6_Missense_Mutation_p.L4207H			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4207					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GATTTTCGTCTTTGGCTTATT	0.488																																																0													164	150	154					11																	6589765		1944	4151	6095	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12620T>A	chr11.hg19:g.6589765T>A	ENSP00000436180:p.Leu4207His		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	hg19	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628693	0.67015	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.17054	2.3;2.3	4.77	4.77	0.60923	Dynein heavy chain (1);	0.000000	0.64402	D	0.000012	T	0.38904	0.1058	M	0.69823	2.125	0.33897	D	0.638033	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.55811	-0.8082	10	0.87932	D	0	-10.3556	10.8544	0.46789	0.0:0.0:0.0:1.0	.	3295;475;260;4207	B0I1S4;D3DQT9;Q9NSW8;Q96M86	.;.;.;DNHD1_HUMAN	H	4207;4207;475;475	ENSP00000254579:L4207H;ENSP00000436180:L4207H	ENSP00000254579:L4207H	L	+	2	0	DNHD1	6546341	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.149000	0.42244	2.143000	0.66587	0.459000	0.35465	CTT		0.488	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6589765	T	A	6589765	3	1	22	1	0	0	0	0	1	0	0	0	4670	1609	56	5	12771	5	DNHD1	11	6589765	Missense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10		6589765	128416751	67	1522											
ARNTL	406	hgsc.bcm.edu	37	11	13402758	13402758	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr11:13402758C>T	ENST00000403290.1	+	18	1929	c.1574C>T	c.(1573-1575)aCg>aTg	p.T525M	ARNTL_ENST00000361003.4_Missense_Mutation_p.T407M|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000403482.3_Missense_Mutation_p.T523M|ARNTL_ENST00000389707.4_Missense_Mutation_p.T524M|ARNTL_ENST00000403510.3_Missense_Mutation_p.T481M|ARNTL_ENST00000401424.1_Missense_Mutation_p.T482M|ARNTL_ENST00000396441.3_Missense_Mutation_p.T524M			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	525	Interaction with CIART. {ECO:0000250|UniProtKB:Q9WTL8}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TTGAACATCACGAGTACGCCT	0.473																																																0													143	130	134					11																	13402758		2200	4294	6494	SO:0001583	missense	406			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1574C>T	chr11.hg19:g.13402758C>T	ENSP00000384517:p.Thr525Met		A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.02	2.409897	0.42715	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.49	5.49	0.81192	.	0.097970	0.64402	D	0.000001	T	0.45617	0.1351	L	0.44542	1.39	0.80722	D	1	B;P;D;D;P	0.69078	0.11;0.942;0.99;0.997;0.904	B;P;P;P;B	0.56474	0.027;0.62;0.556;0.799;0.416	T	0.24693	-1.0153	10	0.46703	T	0.11	.	14.2188	0.65812	0.1494:0.8506:0.0:0.0	.	523;482;525;524;481	O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;BMAL1_HUMAN;.;.	M	524;524;482;525;407;481;481;523	ENSP00000379718:T524M;ENSP00000374357:T524M;ENSP00000385915:T482M;ENSP00000384517:T525M;ENSP00000354278:T407M;ENSP00000385581:T481M;ENSP00000385897:T523M	ENSP00000340289:T481M	T	+	2	0	ARNTL	13359334	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.325000	0.59234	2.731000	0.93534	0.650000	0.86243	ACG		0.473	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		T	13402758	C	T	13402758	3	4	22	1	0	0	0	0	1	0	0	0	967	536	19	1	1640	1	ARNTL	11	13402758	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	6812993	13402758	121603758	68	1523											
HARBI1	283254	hgsc.bcm.edu	37	11	46637239	46637239	+	Silent	SNP	T	T	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr11:46637239T>C	ENST00000326737.3	-	2	796	c.549A>G	c.(547-549)agA>agG	p.R183R	ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000526508.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	183						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TTAGTGTCCCTCTAATGTCAC	0.517																																																0													164	168	167					11																	46637239		2201	4299	6500	SO:0001819	synonymous_variant	283254			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.549A>G	chr11.hg19:g.46637239T>C			D3DQP9	Silent	SNP	ENST00000326737.3	hg19	CCDS7920.1																																																																																				0.517	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		C	46637239	T	C	46637239	2	2	22	1	0	0	0	0	0	0	0	1	6960	1548	54	3		3	HARBI1	11	46637239	Silent	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	33234481	46637239	88369277	69	1524											
SLC3A2	6520	hgsc.bcm.edu	37	11	62650443	62650443	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr11:62650443A>G	ENST00000377890.2	+	6	1133	c.965A>G	c.(964-966)cAg>cGg	p.Q322R	SLC3A2_ENST00000377891.2_Missense_Mutation_p.Q323R|SLC3A2_ENST00000377889.2_Missense_Mutation_p.Q260R|SLC3A2_ENST00000377892.1_Missense_Mutation_p.Q353R|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.Q221R|SLC3A2_ENST00000535296.1_Missense_Mutation_p.Q291R	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	322					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.Q353R(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TTCTCCACTCAGGTTGACACT	0.547																																																1	Substitution - Missense(1)	kidney(1)											147	117	127					11																	62650443		2201	4298	6499	SO:0001583	missense	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.965A>G	chr11.hg19:g.62650443A>G	ENSP00000367122:p.Gln322Arg		Q13543	Missense_Mutation	SNP	ENST00000377890.2	hg19	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	A	15.57	2.872936	0.51695	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606	D;D;D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85;-4.83;-4.85	4.58	4.58	0.56647	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.897130	0.02113	N	0.054979	D	0.97179	0.9078	M	0.63428	1.95	0.09310	N	1	B;B;B;B;B	0.28470	0.159;0.003;0.017;0.007;0.213	B;B;B;B;B	0.28784	0.036;0.015;0.028;0.008;0.094	D	0.87653	0.2529	10	0.14252	T	0.57	-2.611	12.2242	0.54451	1.0:0.0:0.0:0.0	.	260;291;322;221;353	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	R	353;323;322;323;260;291;221;203	ENSP00000367124:Q353R;ENSP00000367123:Q323R;ENSP00000367122:Q322R;ENSP00000367121:Q260R;ENSP00000444236:Q291R;ENSP00000340815:Q221R	ENSP00000340815:Q221R	Q	+	2	0	SLC3A2	62407019	0.020000	0.18652	0.007000	0.13788	0.515000	0.34225	2.014000	0.40951	1.849000	0.53698	0.459000	0.35465	CAG		0.547	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		G	62650443	A	G	62650443	3	3	22	1	0	0	0	0	1	0	0	0	14633	188	7	3	1087	3	SLC3A2	11	62650443	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	16013204	62650443	72356073	70	1525											
UCP2	7351	hgsc.bcm.edu	37	11	73689030	73689030	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr11:73689030T>C	ENST00000310473.3	-	4	1080	c.238A>G	c.(238-240)Aat>Gat	p.N80D	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Missense_Mutation_p.N80D	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	80					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					ACCAGCCCATTGTAGAGGCTT	0.607																																					Colon(191;388 2040 43557 45622 48925)											0													58	59	59					11																	73689030		2200	4293	6493	SO:0001583	missense	7351			U76367	CCDS8228.1	11q13	2014-02-12						"Solute carriers"	12518	protein-coding gene	gene with protein product		601693	"body mass index QTL 4", "body mass index quantitative trait 4"	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.238A>G	chr11.hg19:g.73689030T>C	ENSP00000312029:p.Asn80Asp		Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	hg19	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206483	0.58343	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615	T;T;T	0.78924	-1.22;-1.22;-1.22	6.07	6.07	0.98685	Mitochondrial carrier domain (2);	0.217573	0.53938	D	0.000045	T	0.80470	0.4629	M	0.69185	2.1	0.46678	D	0.999154	B;B	0.15930	0.013;0.015	B;B	0.34242	0.152;0.178	T	0.77297	-0.2640	10	0.56958	D	0.05	-5.0289	15.4529	0.75290	0.0:0.0:0.0:1.0	.	80;80	F5GX45;P55851	.;UCP2_HUMAN	D	80;80;53	ENSP00000312029:N80D;ENSP00000441147:N80D;ENSP00000439951:N53D	ENSP00000312029:N80D	N	-	1	0	UCP2	73366678	1.000000	0.71417	0.989000	0.46669	0.605000	0.37080	6.246000	0.72405	2.326000	0.78906	0.533000	0.62120	AAT		0.607	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		C	73689030	T	C	73689030	3	2	22	1	0	0	0	0	1	0	0	0	16936	1812	63	3	711	3	UCP2	11	73689030	Missense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	11038587	73689030	61317486	71	1526											
ENO2	2026	hgsc.bcm.edu	37	12	7031532	7031532	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr12:7031532C>T	ENST00000535366.1	+	10	1828	c.1202C>T	c.(1201-1203)tCt>tTt	p.S401F	ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000545045.2_Missense_Mutation_p.S282F|ENO2_ENST00000544774.1_Missense_Mutation_p.S358F|ENO2_ENST00000538763.1_Missense_Mutation_p.S358F|ENO2_ENST00000229277.1_Missense_Mutation_p.S401F|ENO2_ENST00000541477.1_Missense_Mutation_p.S401F|ATN1_ENST00000356654.4_5'Flank			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	401					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCGTGCCGTTCTGAACGTCTG	0.547																																																0													94	84	87					12																	7031532		2203	4300	6503	SO:0001583	missense	2026			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.1202C>T	chr12.hg19:g.7031532C>T	ENSP00000437402:p.Ser401Phe		B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	hg19	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590935	0.86851	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366;ENST00000545045	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	4.22	4.22	0.49857	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	H	0.95504	3.68	0.80722	D	1	P;D	0.69078	0.566;0.997	P;D	0.71656	0.521;0.974	D	0.88558	0.3121	10	0.72032	D	0.01	-10.0883	17.1386	0.86747	0.0:1.0:0.0:0.0	.	358;401	B7Z2X9;P09104	.;ENOG_HUMAN	F	401;401;358;358;401;282	ENSP00000438873:S401F;ENSP00000229277:S401F;ENSP00000441490:S358F;ENSP00000446195:S358F;ENSP00000437402:S401F;ENSP00000438062:S282F	ENSP00000229277:S401F	S	+	2	0	ENO2	6901793	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	7.651000	0.83577	2.361000	0.80049	0.455000	0.32223	TCT		0.547	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			T	7031532	C	T	7031532	3	4	22	1	0	0	0	0	1	0	0	0	5124	913	32	2	1240	2	ENO2	12	7031532	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10		7031532	126820363	72	1527											
DIP2B	57609	hgsc.bcm.edu	37	12	51108338	51108338	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr12:51108338C>A	ENST00000301180.5	+	23	2844	c.2810C>A	c.(2809-2811)aCa>aAa	p.T937K		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	937						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGCCCCCATACATGTGTGACA	0.463																																																0													110	102	105					12																	51108338		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2810C>A	chr12.hg19:g.51108338C>A	ENSP00000301180:p.Thr937Lys		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	hg19	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574553	0.86542	.	.	ENSG00000066084	ENST00000301180	T	0.37235	1.21	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	M	0.78801	2.425	0.80722	D	1	P	0.45428	0.858	P	0.45794	0.493	T	0.39663	-0.9603	10	0.08837	T	0.75	-13.4949	18.5538	0.91075	0.0:1.0:0.0:0.0	.	937	Q9P265	DIP2B_HUMAN	K	937	ENSP00000301180:T937K	ENSP00000301180:T937K	T	+	2	0	DIP2B	49394605	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	ACA		0.463	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		A	51108338	C	A	51108338	3	1	22	1	0	0	0	0	1	0	0	0	4530	478	17	4	2900	4	DIP2B	12	51108338	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	44076806	51108338	82743557	73	1528											
DYRK2	8445	hgsc.bcm.edu	37	12	68051341	68051341	+	Silent	SNP	G	G	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr12:68051341G>T	ENST00000344096.3	+	3	1067	c.654G>T	c.(652-654)gtG>gtT	p.V218V	DYRK2_ENST00000393555.3_Silent_p.V145V|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	218					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		ACGATCACGTGGCTTACAGGT	0.547																																																0													72	56	61					12																	68051341		2203	4300	6503	SO:0001819	synonymous_variant	8445			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.654G>T	chr12.hg19:g.68051341G>T			B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	hg19	CCDS8978.1																																																																																				0.547	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			T	68051341	G	T	68051341	2	4	22	1	0	0	0	0	0	0	0	1	4858	1335	47	4		4	DYRK2	12	68051341	Silent	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	16943003	68051341	65800554	74	1529											
PTPRB	5787	hgsc.bcm.edu	37	12	71016317	71016317	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr12:71016317A>T	ENST00000550358.1	-	3	586	c.561T>A	c.(559-561)aaT>aaA	p.N187K	PTPRB_ENST00000551525.1_Missense_Mutation_p.N186K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Missense_Mutation_p.N187K			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCTCTGTGGTATTCCTAATAA	0.478																																																0													68	73	71					12																	71016317		1915	4126	6041	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.561T>A	chr12.hg19:g.71016317A>T	ENSP00000448058:p.Asn187Lys		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000550358.1	hg19		.	.	.	.	.	.	.	.	.	.	A	16.59	3.166622	0.57476	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.04275	4.17;4.13;3.66	5.72	-9.02	0.00741	.	.	.	.	.	T	0.07954	0.0199	L	0.27053	0.805	0.20307	N	0.999914	D;D;P;P	0.69078	0.997;0.972;0.873;0.873	P;P;B;B	0.58331	0.837;0.621;0.306;0.306	T	0.10314	-1.0635	9	0.40728	T	0.16	.	17.5824	0.87972	0.7669:0.0:0.2331:0.0	.	187;186;187;187	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	K	187;187;187;186	ENSP00000334928:N187K;ENSP00000448058:N187K;ENSP00000448349:N186K	ENSP00000334928:N187K	N	-	3	2	PTPRB	69302584	0.066000	0.20996	0.074000	0.20217	0.002000	0.02628	-0.965000	0.03829	-1.631000	0.01543	-0.904000	0.02843	AAT		0.478	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1			T	71016317	A	T	71016317	3	4	22	1	0	0	0	0	1	0	0	0	12802	446	16	5	6272	5	PTPRB	12	71016317	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	2964976	71016317	62835578	75	1530											
ACSS3	79611	hgsc.bcm.edu	37	12	81627129	81627129	+	Splice_Site	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr12:81627129G>A	ENST00000548058.1	+	13	2508	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	ACSS3_ENST00000261206.3_Splice_Site_p.G532E|ACSS3_ENST00000548324.1_Splice_Site_p.G215E			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	533						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGTTTTCAGGGATATTATGAT	0.308																																																0													214	213	213					12																	81627129		2203	4300	6503	SO:0001630	splice_region_variant	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1597-1G>A	chr12.hg19:g.81627129G>A			Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	hg19	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914047	0.92178	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.60040	2.07;2.07;0.22	5.84	5.84	0.93424	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.99;1.0	D	0.85234	0.1034	10	0.72032	D	0.01	-9.1533	19.7715	0.96367	0.0:0.0:1.0:0.0	.	215;533	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	E	533;532;215	ENSP00000449535:G533E;ENSP00000261206:G532E;ENSP00000448965:G215E	ENSP00000261206:G532E	G	+	2	0	ACSS3	80151260	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.282000	0.95840	2.777000	0.95525	0.650000	0.86243	GGA		0.308	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560	Missense_Mutation	A	81627129	G	A	81627129	5	1	22	1	0	0	0	0	0	0	1	0	190	1188	41	2	1648	2	ACSS3	12	81627129	Splice_Site	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	10610812	81627129	52224766	76	1531											
SYCP3	50511	hgsc.bcm.edu	37	12	102127402	102127402	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr12:102127402T>C	ENST00000392927.3	-	6	535	c.404A>G	c.(403-405)cAg>cGg	p.Q135R	SYCP3_ENST00000392924.1_Missense_Mutation_p.Q135R|SYCP3_ENST00000266743.2_Missense_Mutation_p.Q135R	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	135	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TAAATCCCACTGCTGAAACAA	0.323																																																0													146	135	138					12																	102127402		2203	4300	6503	SO:0001583	missense	50511			AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.404A>G	chr12.hg19:g.102127402T>C	ENSP00000376658:p.Gln135Arg			Missense_Mutation	SNP	ENST00000392927.3	hg19	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.552521	0.27739	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.95	5.95	0.96441	.	0.128110	0.53938	D	0.000053	T	0.49966	0.1588	L	0.39326	1.205	0.48452	D	0.99965	P	0.36010	0.532	B	0.39590	0.304	T	0.48352	-0.9043	9	0.30854	T	0.27	-9.351	10.7032	0.45939	0.0:0.0708:0.0:0.9292	.	135	Q8IZU3	SYCP3_HUMAN	R	135	.	ENSP00000266743:Q135R	Q	-	2	0	SYCP3	100651533	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	3.569000	0.53827	2.272000	0.75746	0.460000	0.39030	CAG		0.323	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		C	102127402	T	C	102127402	3	2	22	1	0	0	0	0	1	0	0	0	15439	1580	55	3	322	3	SYCP3	12	102127402	Missense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	20500273	102127402	31724493	77	1532											
ANAPC7	51434	hgsc.bcm.edu	37	12	110825587	110825587	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr12:110825587A>T	ENST00000455511.3	-	5	733	c.733T>A	c.(733-735)Ttt>Att	p.F245I	RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Missense_Mutation_p.F245I	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	245					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GTGTGCACAAAAGCATACGCT	0.473																																																0													137	109	118					12																	110825587		2203	4300	6503	SO:0001583	missense	51434			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.733T>A	chr12.hg19:g.110825587A>T	ENSP00000394394:p.Phe245Ile		Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	hg19	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386589	0.82902	.	.	ENSG00000196510;ENSG00000196510;ENSG00000258210	ENST00000455511;ENST00000450008;ENST00000550231	T;T	0.63913	-0.07;0.95	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	N	0.22421	0.69	0.80722	D	1	D;B	0.57899	0.981;0.207	D;B	0.69142	0.962;0.05	T	0.64045	-0.6499	10	0.25106	T	0.35	-11.8755	16.6245	0.84952	1.0:0.0:0.0:0.0	.	245;245	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	I	245;245;144	ENSP00000394394:F245I;ENSP00000402314:F245I	ENSP00000402314:F245I	F	-	1	0	RP11-478C19.2;ANAPC7	109309970	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.958000	0.93099	2.323000	0.78572	0.528000	0.53228	TTT		0.473	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		T	110825587	A	T	110825587	3	4	22	1	0	0	0	0	1	0	0	0	606	14	1	5	1098	5	ANAPC7	12	110825587	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	8698185	110825587	23026308	78	1533											
C12orf51	283450	hgsc.bcm.edu	37	12	112664523	112664523	+	Silent	SNP	T	T	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr12:112664523T>C	ENST00000430131.2	-	43	6773	c.5628A>G	c.(5626-5628)ttA>ttG	p.L1876L	HECTD4_ENST00000550722.1_Silent_p.L2152L|HECTD4_ENST00000377560.5_Silent_p.L2126L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1876					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTTCACAAAATAAGCTGTCTT	0.388																																																0													84	81	82					12																	112664523		1869	4124	5993	SO:0001819	synonymous_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5628A>G	chr12.hg19:g.112664523T>C			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	hg19		.	.	.	.	.	.	.	.	.	.	T	9.769	1.172289	0.21704	.	.	ENSG00000173064	ENST00000550968	.	.	.	5.24	-1.38	0.09027	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54118	-0.8341	4	.	.	.	.	10.8882	0.46978	0.0:0.47:0.0:0.53	.	.	.	.	C	43	.	.	Y	-	2	0	C12orf51	111148906	0.090000	0.21635	0.994000	0.49952	0.996000	0.88848	-0.647000	0.05397	-0.195000	0.10382	0.383000	0.25322	TAT		0.388	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		C	112664523	T	C	112664523	2	2	22	1	0	0	0	0	0	0	0	1	1698	1403	49	3		3	C12orf51	12	112664523	Silent	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	1838936	112664523	21187372	79	1534											
PRPF39	55015	hgsc.bcm.edu	37	14	45578916	45578916	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr14:45578916A>T	ENST00000355765.6	+	8	1279	c.1109A>T	c.(1108-1110)gAa>gTa	p.E370V	SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	370					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GGGACTCATGAACGAGTTGTG	0.338																																																0													75	70	72					14																	45578916		2203	4300	6503	SO:0001583	missense	55015			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1109A>T	chr14.hg19:g.45578916A>T	ENSP00000348010:p.Glu370Val		Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	hg19	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	A	18.44	3.625017	0.66901	.	.	ENSG00000185246	ENST00000355765	T	0.35421	1.31	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	L	0.45285	1.41	0.80722	D	1	P	0.50272	0.933	P	0.52672	0.706	T	0.31447	-0.9943	10	0.48119	T	0.1	-4.5178	14.5457	0.68030	1.0:0.0:0.0:0.0	.	370	Q86UA1	PRP39_HUMAN	V	370	ENSP00000348010:E370V	ENSP00000348010:E370V	E	+	2	0	PRPF39	44648666	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.114000	0.94329	2.124000	0.65301	0.383000	0.25322	GAA		0.338	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			T	45578916	A	T	45578916	3	4	22	1	0	0	0	0	1	0	0	0	12574	246	9	5	1135	5	PRPF39	14	45578916	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10		45578916	61770624	80	1535											
C14orf104	55172	hgsc.bcm.edu	37	14	50100020	50100024	+	Frame_Shift_Del	DEL	GTTTA	GTTTA	-			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	GTTTA	GTTTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr14:50100020_50100024delGTTTA	ENST00000298292.8	-	1	1924_1928	c.1844_1848delTAAAC	c.(1843-1848)gtaaacfs	p.VN615fs	DNAAF2_ENST00000406043.3_Frame_Shift_Del_p.VN615fs	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	615					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						AAGAATCGTTGTTTACACCATAATA	0.429																																																0																																										SO:0001589	frameshift_variant	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1844_1848delTAAAC	chr14.hg19:g.50100020_50100024delGTTTA	ENSP00000298292:p.Val615fs		B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Frame_Shift_Del	DEL	ENST00000298292.8	hg19	CCDS9691.2																																																																																				0.429	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			-	50100024	GTTTA	-	50100020	7	5	22	1	0	1	0	1	0	0	0	0	1738	1368	48	0	677	0	C14orf104	14	50100020	Frame_Shift_Del	DEL	GTTTA	TCGA-2Z-A9JS-01A-21D-A42J-10	4521104	50100020	57249520	81	1536											
TMEM30B	161291	hgsc.bcm.edu	37	14	61747022	61747022	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr14:61747022C>T	ENST00000555868.1	-	1	1536	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	TMEM30B_ENST00000557163.1_5'UTR|TMEM30B_ENST00000355702.2_Missense_Mutation_p.A282T	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	282					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		ACGCGGTAGGCGCCCCGCGGC	0.667																																																0													39	40	40					14																	61747022		2202	4300	6502	SO:0001583	missense	161291			AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.844G>A	chr14.hg19:g.61747022C>T	ENSP00000450842:p.Ala282Thr		B3KR84|Q14D00	Missense_Mutation	SNP	ENST00000555868.1	hg19	CCDS32093.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049475	0.36181	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	4.67	-2.8	0.05823	.	0.667620	0.14557	N	0.312287	T	0.03136	0.0092	N	0.00201	-1.865	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34279	-0.9835	9	0.02654	T	1	-16.991	1.474	0.02422	0.1438:0.2798:0.1415:0.4349	.	282	Q3MIR4	CC50B_HUMAN	T	282	.	ENSP00000347930:A282T	A	-	1	0	TMEM30B	60816775	0.001000	0.12720	0.025000	0.17156	0.923000	0.55619	-0.871000	0.04223	-0.491000	0.06697	0.650000	0.86243	GCC		0.667	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	XM_090844		T	61747022	C	T	61747022	3	4	22	1	0	0	0	0	1	0	0	0	16159	768	27	1	215	1	TMEM30B	14	61747022	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	11647002	61747022	45602518	82	1537											
HSP90AA1	3320	hgsc.bcm.edu	37	14	102552294	102552294	+	Silent	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr14:102552294G>A	ENST00000216281.8	-	3	535	c.330C>T	c.(328-330)atC>atT	p.I110I	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000334701.7_Silent_p.I232I	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	110					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CAGACTTGGCGATAGTACCAA	0.423																																																0													67	67	67					14																	102552294		2203	4297	6500	SO:0001819	synonymous_variant	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.330C>T	chr14.hg19:g.102552294G>A			A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Silent	SNP	ENST00000216281.8	hg19	CCDS9967.1																																																																																				0.423	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		A	102552294	G	A	102552294	2	1	22	1	0	0	0	0	0	0	0	1	7403	1048	37	1		1	HSP90AA1	14	102552294	Silent	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	40805272	102552294	4797246	83	1538											
INO80	54617	hgsc.bcm.edu	37	15	41387985	41387985	+	Silent	SNP	T	T	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr15:41387985T>C	ENST00000361937.3	-	3	709	c.285A>G	c.(283-285)acA>acG	p.T95T	INO80_ENST00000401393.3_Silent_p.T95T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	95	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCAGAGAATATGTGTTTAACA	0.428																																																0													70	75	73					15																	41387985		2203	4300	6503	SO:0001819	synonymous_variant	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.285A>G	chr15.hg19:g.41387985T>C			A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	hg19	CCDS10071.1																																																																																				0.428	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		C	41387985	T	C	41387985	2	2	22	1	0	0	0	0	0	0	0	1	7748	1451	51	3		3	INO80	15	41387985	Silent	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10		41387985	61143407	84	1539											
ATP8B4	79895	hgsc.bcm.edu	37	15	50168660	50168660	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr15:50168660G>T	ENST00000284509.6	-	25	2983	c.2842C>A	c.(2842-2844)Ctg>Atg	p.L948M	ATP8B4_ENST00000559829.1_Missense_Mutation_p.L948M	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	948						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTAAAAAGCAGATTCAGCTGT	0.433																																																0													107	104	105					15																	50168660		2196	4295	6491	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2842C>A	chr15.hg19:g.50168660G>T	ENSP00000284509:p.Leu948Met		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	hg19	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479600	0.44044	.	.	ENSG00000104043	ENST00000284509	T	0.71698	-0.59	5.86	2.95	0.34219	.	0.148044	0.45606	D	0.000351	T	0.76205	0.3955	L	0.56199	1.76	0.38832	D	0.955877	D;P	0.58620	0.983;0.632	D;B	0.70716	0.97;0.291	T	0.73512	-0.3959	10	0.44086	T	0.13	.	7.022	0.24920	0.1502:0.0:0.7096:0.1402	.	26;948	Q6PG43;Q8TF62	.;AT8B4_HUMAN	M	948	ENSP00000284509:L948M	ENSP00000284509:L948M	L	-	1	2	ATP8B4	47955952	1.000000	0.71417	0.993000	0.49108	0.856000	0.48823	5.705000	0.68355	0.374000	0.24650	-0.150000	0.13652	CTG		0.433	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		T	50168660	G	T	50168660	3	4	22	1	0	0	0	0	1	0	0	0	1197	933	33	4	752	4	ATP8B4	15	50168660	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	8780675	50168660	52362732	85	1540											
MYO9A	4649	hgsc.bcm.edu	37	15	72176078	72176078	+	Splice_Site	SNP	C	C	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr15:72176078C>G	ENST00000356056.5	-	28	5728		c.e28-1		MYO9A_ENST00000444904.1_Splice_Site|MYO9A_ENST00000564571.1_Splice_Site|MYO9A_ENST00000424560.1_Splice_Site	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTCTGAGGTCTGTTTAAAGA	0.368																																																0													124	123	124					15																	72176078		2199	4297	6496	SO:0001630	splice_region_variant	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5256-1G>C	chr15.hg19:g.72176078C>G			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Splice_Site	SNP	ENST00000356056.5	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736224	0.69189	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0021	0.86384	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO9A	69963132	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	6.736000	0.74811	2.061000	0.61500	0.557000	0.71058	.		0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	Intron	G	72176078	C	G	72176078	5	3	22	1	0	0	0	0	0	0	1	0	10086	927	32	4	2451	4	MYO9A	15	72176078	Splice_Site	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	22007418	72176078	30355314	86	1541											
EDC3	80153	hgsc.bcm.edu	37	15	74925259	74925260	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr15:74925259_74925260GA>AG	ENST00000315127.4	-	7	1401_1402	c.1220_1221TC>CT	c.(1219-1221)gTC>gCT	p.V407A	EDC3_ENST00000426797.3_Missense_Mutation_p.V407A|EDC3_ENST00000568176.1_Missense_Mutation_p.V407A	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	407	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGCAGTTGATGACCAGGTCCAC	0.599											OREG0023286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001583	missense	80153			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"yjeF domain containing (E.coli)", "LSM16 homolog (EDC3, S. cerevisiae)", "enhancer of mRNA decapping 3 homolog (S. cerevisiae)"	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.1220_1221delinsAG	chr15.hg19:g.74925259_74925260delinsAG	ENSP00000320503:p.Val407Ala	1156	B3KPH0|D3DW61|Q9H797	Silent|Missense_Mutation	SNP	ENST00000315127.4	hg19	CCDS10267.1																																																																																				0.599	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083		AG	74925260	GA	AG	74925259	3	1	22	1	0	0	0	0	1	0	0	0	4909	1277	45	2	309	2	EDC3	15	74925259	Missense_Mutation	DNP	GA	TCGA-2Z-A9JS-01A-21D-A42J-10	2749181	74925259	27606133	87	1542											
FURIN	5045	hgsc.bcm.edu	37	15	91424718	91424718	+	Silent	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr15:91424718C>T	ENST00000268171.3	+	16	2274	c.1995C>T	c.(1993-1995)caC>caT	p.H665H	FES_ENST00000414248.2_5'Flank|FES_ENST00000328850.3_5'Flank|FES_ENST00000394302.1_5'Flank	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	665					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCCCCAGCCACGCCTCCTTGG	0.706																																																0													24	27	26					15																	91424718		2195	4285	6480	SO:0001819	synonymous_variant	5045			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1995C>T	chr15.hg19:g.91424718C>T			Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	hg19	CCDS10364.1																																																																																				0.706	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		T	91424718	C	T	91424718	2	4	22	1	0	0	0	0	0	0	0	1	6101	535	19	1		1	FURIN	15	91424718	Silent	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	16499459	91424718	11106674	88	1543											
PDIA2	64714	hgsc.bcm.edu	37	16	335403	335403	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr16:335403G>A	ENST00000219406.6	+	6	905	c.887G>A	c.(886-888)gGc>gAc	p.G296D	PDIA2_ENST00000404312.1_Missense_Mutation_p.G293D|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	296					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTCCTAGCGGGCTTTGGGGAG	0.667																																																0													23	26	25					16																	335403		1918	4116	6034	SO:0001583	missense	64714			U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.887G>A	chr16.hg19:g.335403G>A	ENSP00000219406:p.Gly296Asp		A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	hg19	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	g	0.082	-1.181702	0.01633	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.28069	1.63;1.63	4.03	2.0	0.26442	Thioredoxin-like fold (1);	0.602380	0.17134	N	0.185729	T	0.19167	0.0460	L	0.36672	1.1	0.09310	N	0.99999	B	0.06786	0.001	B	0.11329	0.006	T	0.31364	-0.9946	10	0.10377	T	0.69	.	7.2649	0.26224	0.2953:0.0:0.7047:0.0	.	296	Q13087	PDIA2_HUMAN	D	296;265;293	ENSP00000219406:G296D;ENSP00000384410:G293D	ENSP00000219406:G296D	G	+	2	0	PDIA2	275404	0.009000	0.17119	0.316000	0.25252	0.017000	0.09413	1.175000	0.31944	0.351000	0.24027	-0.348000	0.07805	GGC		0.667	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		A	335403	G	A	335403	3	1	22	1	0	0	0	0	1	0	0	0	11670	1203	42	2	909	2	PDIA2	16	335403	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10		335403	90019350	89	1544											
ANKS3	124401	hgsc.bcm.edu	37	16	4747050	4747050	+	Silent	SNP	C	C	T	rs369166637		TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr16:4747050C>T	ENST00000304283.4	-	17	2244	c.1950G>A	c.(1948-1950)ggG>ggA	p.G650G	ANKS3_ENST00000585773.1_Silent_p.G577G|ANKS3_ENST00000446014.2_Silent_p.G521G	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	650										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCCACTTCTTCCCGTTCAGCA	0.652																																																0								C	,	1,4393		0,1,2196	77	61	66		1629,1950	2.4	0.2	16		66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ANKS3	NM_001242929.1,NM_133450.3	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	543/550,650/657	4747050	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	124401			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1950G>A	chr16.hg19:g.4747050C>T			B4DWU4|D3DUE2|Q8TF25	Silent	SNP	ENST00000304283.4	hg19	CCDS10520.1																																																																																				0.652	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		T	4747050	C	T	4747050	2	4	22	1	0	0	0	0	0	0	0	1	690	842	30	2		2	ANKS3	16	4747050	Silent	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	4411647	4747050	85607703	90	1545											
SEPT12	124404	hgsc.bcm.edu	37	16	4828111	4828111	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr16:4828111G>T	ENST00000268231.8	-	9	1114	c.851C>A	c.(850-852)cCt>cAt	p.P284H	SEPT12_ENST00000396693.5_Missense_Mutation_p.P238H	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	284	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCTCAGGAGAGGAAATTCACA	0.607																																																0													80	73	75					16																	4828111		2197	4300	6497	SO:0001583	missense	124404			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.851C>A	chr16.hg19:g.4828111G>T	ENSP00000268231:p.Pro284His		Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	hg19	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936273	0.73442	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.50548	0.74;0.74	4.45	3.2	0.36748	.	0.170411	0.50627	D	0.000102	T	0.52805	0.1757	L	0.37561	1.115	0.31027	N	0.717824	D;D	0.65815	0.995;0.993	D;D	0.64687	0.917;0.928	T	0.57159	-0.7859	10	0.87932	D	0	.	9.1566	0.36996	0.1436:0.0:0.8564:0.0	.	238;284	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	H	238;284	ENSP00000379922:P238H;ENSP00000268231:P284H	ENSP00000268231:P284H	P	-	2	0	SEPT12	4768112	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.391000	0.79828	0.888000	0.36160	0.561000	0.74099	CCT		0.607	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		T	4828111	G	T	4828111	3	4	22	1	0	0	0	0	1	0	0	0	14068	1000	35	4	233	4	SEPT12	16	4828111	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	81061	4828111	85526642	91	1546											
TNRC6A	27327	hgsc.bcm.edu	37	16	24801182	24801182	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr16:24801182A>G	ENST00000395799.3	+	6	1348	c.1219A>G	c.(1219-1221)Att>Gtt	p.I407V	TNRC6A_ENST00000315183.7_Missense_Mutation_p.I407V	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	407	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAATCAGAGTATTAACTCTAA	0.443																																																0													72	74	73					16																	24801182		2197	4300	6497	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1219A>G	chr16.hg19:g.24801182A>G	ENSP00000379144:p.Ile407Val		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	hg19	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	5.172	0.217280	0.09810	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.11277	2.79;2.79	5.94	3.72	0.42706	.	0.130307	0.56097	D	0.000036	T	0.08714	0.0216	L	0.47716	1.5	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.18023	-1.0350	10	0.17369	T	0.5	-2.9762	6.564	0.22501	0.7316:0.1316:0.1368:0.0	.	154;407;407	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	V	407	ENSP00000326900:I407V;ENSP00000379144:I407V	ENSP00000326900:I407V	I	+	1	0	TNRC6A	24708683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.862000	0.48388	1.066000	0.40716	0.460000	0.39030	ATT		0.443	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		G	24801182	A	G	24801182	3	3	22	1	0	0	0	0	1	0	0	0	16345	449	16	3	1241	3	TNRC6A	16	24801182	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	19973071	24801182	65553571	92	1547											
ZNF778	197320	hgsc.bcm.edu	37	16	89294957	89294957	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr16:89294957A>T	ENST00000433976.2	+	6	2509	c.2177A>T	c.(2176-2178)gAg>gTg	p.E726V	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.E684V	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	726					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CACACTGATGAGAAACCTTTC	0.393																																																0													54	56	55					16																	89294957		1986	4144	6130	SO:0001583	missense	197320			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.2177A>T	chr16.hg19:g.89294957A>T	ENSP00000405289:p.Glu726Val		Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	hg19	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	A	8.492	0.862348	0.17178	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.07688	3.25;3.17	0.868	-0.434	0.12283	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	M	0.63843	1.955	0.23816	N	0.996768	B;B	0.18863	0.031;0.018	B;B	0.17722	0.019;0.008	T	0.33523	-0.9865	9	0.66056	D	0.02	.	4.12	0.10101	0.7413:0.0:0.2587:0.0	.	684;726	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	V	726;684	ENSP00000405289:E726V;ENSP00000305203:E684V	ENSP00000305203:E684V	E	+	2	0	ZNF778	87822458	0.993000	0.37304	0.014000	0.15608	0.037000	0.13140	1.505000	0.35736	-0.160000	0.11002	0.254000	0.18369	GAG		0.393	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		T	89294957	A	T	89294957	3	4	22	1	0	0	0	0	1	0	0	0	18156	304	11	5	2195	5	ZNF778	16	89294957	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	64493775	89294957	1059796	93	1548											
AP2B1	163	hgsc.bcm.edu	37	17	33977776	33977776	+	Silent	SNP	T	T	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr17:33977776T>C	ENST00000262325.7	+	13	2317	c.1764T>C	c.(1762-1764)atT>atC	p.I588I	AP2B1_ENST00000592545.1_Silent_p.I550I|AP2B1_ENST00000537622.2_Silent_p.I588I|AP2B1_ENST00000312678.8_Silent_p.I588I|AP2B1_ENST00000538556.1_Silent_p.I531I|AP2B1_ENST00000589344.1_Silent_p.I588I|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	588	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GTCATGGAATTCATCGTAAAC	0.438																																																0													134	120	125					17																	33977776		2203	4300	6503	SO:0001819	synonymous_variant	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1764T>C	chr17.hg19:g.33977776T>C			A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	hg19	CCDS32622.1																																																																																				0.438	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			C	33977776	T	C	33977776	2	2	22	1	0	0	0	0	0	0	0	1	741	1771	62	3		3	AP2B1	17	33977776	Silent	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10		33977776	47217434	94	1549											
GPATCH8	23131	hgsc.bcm.edu	37	17	42476884	42476884	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr17:42476884G>T	ENST00000591680.1	-	8	2591	c.2561C>A	c.(2560-2562)tCa>tAa	p.S854*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.S776*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	854	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCCAGACCTTGAGCGGCTGCG	0.562																																																0													143	128	133					17																	42476884		2203	4300	6503	SO:0001587	stop_gained	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2561C>A	chr17.hg19:g.42476884G>T	ENSP00000467556:p.Ser854*		B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	ENST00000591680.1	hg19	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087860	0.94100	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	5.21	5.21	0.72293	.	0.144795	0.48286	D	0.000183	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-10.9423	18.5485	0.91055	0.0:0.0:1.0:0.0	.	.	.	.	X	854;776	.	ENSP00000335486:S854X	S	-	2	0	GPATCH8	39832410	1.000000	0.71417	0.876000	0.34364	0.419000	0.31324	8.899000	0.92544	2.716000	0.92895	0.561000	0.74099	TCA		0.562	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		T	42476884	G	T	42476884	4	4	22	1	0	0	0	0	0	1	0	0	6596	1294	45	4	1951	4	GPATCH8	17	42476884	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	8499108	42476884	38718326	95	1550	15	2									
GPATCH8	23131	hgsc.bcm.edu	37	17	42476886	42476891	+	In_Frame_Del	DEL	GCGGCT	GCGGCT	-	rs111563656	byFrequency	TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	GCGGCT	GCGGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr17:42476886_42476891delGCGGCT	ENST00000591680.1	-	8	2584_2589	c.2554_2559delAGCCGC	c.(2554-2559)agccgcdel	p.SR854del	GPATCH8_ENST00000434000.1_In_Frame_Del_p.SR776del	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	854	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CAGACCTTGAGCGGCTGCGGGAATGC	0.553																																																0																																										SO:0001651	inframe_deletion	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2554_2559delAGCCGC	chr17.hg19:g.42476886_42476891delGCGGCT	ENSP00000467556:p.Ser854_Arg855del		B9EGP9|O60300|Q8TB99	In_Frame_Del	DEL	ENST00000591680.1	hg19	CCDS32666.1																																																																																				0.553	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		-	42476891	GCGGCT	-	42476886	7	5	22	1	0	1	0	1	0	0	0	0	6596	958	34	0	1953	0	GPATCH8	17	42476886	In_Frame_Del	DEL	GCGGCT	TCGA-2Z-A9JS-01A-21D-A42J-10	2	42476886	38718324	96	1551	15	2									
WNT9B	7484	hgsc.bcm.edu	37	17	44952668	44952668	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr17:44952668C>T	ENST00000290015.2	+	3	589	c.536C>T	c.(535-537)tCc>tTc	p.S179F	WNT9B_ENST00000393461.2_Missense_Mutation_p.S179F	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	179					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TTCCTGGGGTCCAAGAGAGGA	0.627																																																0													60	52	55					17																	44952668		2203	4300	6503	SO:0001583	missense	7484			AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.536C>T	chr17.hg19:g.44952668C>T	ENSP00000290015:p.Ser179Phe		Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	hg19	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441637	0.63067	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.76839	-1.05;-1.05	4.91	4.91	0.64330	.	0.113119	0.64402	D	0.000010	T	0.70596	0.3242	L	0.52905	1.665	0.26796	N	0.969307	P;B	0.39157	0.662;0.026	B;B	0.34590	0.186;0.084	T	0.69950	-0.5006	10	0.56958	D	0.05	.	11.2092	0.48788	0.3126:0.6874:0.0:0.0	.	179;179	E7EPC3;O14905	.;WNT9B_HUMAN	F	173;179;179	ENSP00000377105:S179F;ENSP00000290015:S179F	ENSP00000290015:S179F	S	+	2	0	WNT9B	42307667	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.914000	0.56401	2.550000	0.86006	0.462000	0.41574	TCC		0.627	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		T	44952668	C	T	44952668	3	4	22	1	0	0	0	0	1	0	0	0	17404	855	30	2	546	2	WNT9B	17	44952668	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	2475782	44952668	36242542	97	1552											
PDK2	5164	hgsc.bcm.edu	37	17	48184183	48184187	+	Frame_Shift_Del	DEL	CCCAG	CCCAG	-			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	CCCAG	CCCAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr17:48184183_48184187delCCCAG	ENST00000503176.1	+	5	704_708	c.543_547delCCCAG	c.(541-549)aacccagccfs	p.PA182fs	PDK2_ENST00000007708.3_Frame_Shift_Del_p.PA118fs	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	182	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.P182S(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GCAGCACCAACCCAGCCCATCCCAA	0.629									Autosomal Dominant Polycystic Kidney Disease																																							1	Substitution - Missense(1)	central_nervous_system(1)																																								SO:0001589	frameshift_variant	5164	Familial Cancer Database	ADPKD	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"pyruvate dehydrogenase kinase, isoenzyme 2"			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.543_547delCCCAG	chr17.hg19:g.48184183_48184187delCCCAG	ENSP00000420927:p.Pro182fs		A8K3A7|B3KNW0|Q6P515|Q9BS05	Frame_Shift_Del	DEL	ENST00000503176.1	hg19	CCDS11559.1																																																																																				0.629	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		-	48184187	CCCAG	-	48184183	7	5	22	1	0	1	0	1	0	0	0	0	11678	506	18	0	561	0	PDK2	17	48184183	Frame_Shift_Del	DEL	CCCAG	TCGA-2Z-A9JS-01A-21D-A42J-10	3231515	48184183	33011027	98	1553											
ACSF2	80221	hgsc.bcm.edu	37	17	48540788	48540788	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr17:48540788C>A	ENST00000300441.4	+	8	1025	c.921C>A	c.(919-921)aaC>aaA	p.N307K	ACSF2_ENST00000427954.2_Missense_Mutation_p.N332K|ACSF2_ENST00000541920.1_Missense_Mutation_p.N147K|ACSF2_ENST00000502667.1_Missense_Mutation_p.N294K|ACSF2_ENST00000504392.1_Missense_Mutation_p.N264K	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	307					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCTGCCCAACCCCCTGTACC	0.582																																																0													104	89	94					17																	48540788		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.921C>A	chr17.hg19:g.48540788C>A	ENSP00000300441:p.Asn307Lys		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	hg19	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971738	0.34754	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.8	0.521	0.17046	AMP-dependent synthetase/ligase (1);	0.622353	0.17251	N	0.181166	T	0.36908	0.0984	M	0.61703	1.905	0.20196	N	0.999923	B;B;B;B	0.12630	0.006;0.006;0.006;0.006	B;B;B;B	0.25759	0.063;0.063;0.063;0.063	T	0.39663	-0.9603	10	0.87932	D	0	-1.458	5.5213	0.16933	0.0:0.3735:0.225:0.4015	.	294;332;264;307	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	K	307;147;264;332;294	ENSP00000300441:N307K;ENSP00000437987:N147K;ENSP00000425964:N264K;ENSP00000401831:N332K;ENSP00000421884:N294K	ENSP00000300441:N307K	N	+	3	2	ACSF2	45895787	0.007000	0.16637	0.169000	0.22859	0.866000	0.49608	-0.285000	0.08410	-0.007000	0.14345	0.655000	0.94253	AAC		0.582	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		A	48540788	C	A	48540788	3	1	22	1	0	0	0	0	1	0	0	0	175	506	18	4	951	4	ACSF2	17	48540788	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	356605	48540788	32654422	99	1554											
PSMD12	5718	hgsc.bcm.edu	37	17	65343241	65343241	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr17:65343241T>A	ENST00000356126.3	-	7	893	c.786A>T	c.(784-786)aaA>aaT	p.K262N	PSMD12_ENST00000357146.4_Missense_Mutation_p.K242N	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	262	PCI.				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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					CCTGCTGCCATTTTTCACTTT	0.328																																																0													112	107	108					17																	65343241		2202	4297	6499	SO:0001583	missense	5718			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"Proteasome (prosome, macropain) subunits"	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.786A>T	chr17.hg19:g.65343241T>A	ENSP00000348442:p.Lys262Asn		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	hg19	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548664	0.65311	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.06294	3.32;3.32	5.96	3.99	0.46301	.	0.084304	0.85682	D	0.000000	T	0.14227	0.0344	M	0.83953	2.67	0.80722	D	1	P;P	0.49358	0.923;0.923	P;P	0.47827	0.558;0.558	T	0.01015	-1.1480	10	0.48119	T	0.1	-21.8516	8.416	0.32672	0.0:0.7053:0.0:0.2947	.	242;262	A6NP15;O00232	.;PSD12_HUMAN	N	262;242	ENSP00000348442:K262N;ENSP00000349667:K242N	ENSP00000348442:K262N	K	-	3	2	PSMD12	62773703	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.422000	0.34826	0.849000	0.35215	-0.242000	0.12053	AAA		0.328	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		A	65343241	T	A	65343241	3	1	22	1	0	0	0	0	1	0	0	0	12700	1490	52	5	604	5	PSMD12	17	65343241	Missense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	16802453	65343241	15851969	100	1555											
UNC13D	201294	hgsc.bcm.edu	37	17	73826558	73826558	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr17:73826558T>G	ENST00000207549.4	-	29	3094	c.2715A>C	c.(2713-2715)gaA>gaC	p.E905D	UNC13D_ENST00000412096.2_Missense_Mutation_p.E905D	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	905					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGAGGTGGTTTCTGCCTGGG	0.697									Familial Hemophagocytic Lymphohistiocytosis		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													26	28	28					17																	73826558		2184	4296	6480	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2715A>C	chr17.hg19:g.73826558T>G	ENSP00000207549:p.Glu905Asp	1148	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	hg19	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	T	8.808	0.934637	0.18206	.	.	ENSG00000092929	ENST00000207549;ENST00000412096	T;T	0.70986	-0.51;-0.53	4.71	1.21	0.21127	.	0.403193	0.24722	N	0.036133	T	0.38799	0.1054	N	0.08118	0	0.33043	D	0.531752	B	0.06786	0.001	B	0.04013	0.001	T	0.14090	-1.0485	10	0.16420	T	0.52	-3.4552	0.9409	0.01355	0.1436:0.268:0.2583:0.3301	.	905	Q70J99	UN13D_HUMAN	D	905	ENSP00000207549:E905D;ENSP00000388093:E905D	ENSP00000207549:E905D	E	-	3	2	UNC13D	71338153	0.000000	0.05858	0.982000	0.44146	0.659000	0.38960	-0.243000	0.08915	0.852000	0.35287	0.379000	0.24179	GAA		0.697	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		G	73826558	T	G	73826558	3	3	22	1	0	0	0	0	1	0	0	0	16992	1838	64	5	573	5	UNC13D	17	73826558	Missense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	8483317	73826558	7368652	101	1556											
ARHGAP28	79822	hgsc.bcm.edu	37	18	6870695	6870695	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr18:6870695G>T	ENST00000383472.4	+	7	1022	c.918G>T	c.(916-918)aaG>aaT	p.K306N	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.K129N|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.K147N|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.K254N|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.K142N|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.K306N|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.K147N|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.K147N			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	306					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ATAAACTTAAGAAATCAGAGA	0.343																																																0													68	78	74					18																	6870695		2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.918G>T	chr18.hg19:g.6870695G>T	ENSP00000372964:p.Lys306Asn		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	hg19		.	.	.	.	.	.	.	.	.	.	G	15.45	2.836053	0.50951	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08807	3.2;3.15;3.14;3.12;3.14;3.05	5.22	3.03	0.35002	.	0.543333	0.21383	N	0.075434	T	0.12347	0.0300	L	0.50333	1.59	0.29821	N	0.830846	B;B;B;P	0.52577	0.158;0.057;0.364;0.954	B;B;B;P	0.53809	0.035;0.016;0.192;0.735	T	0.04294	-1.0962	10	0.39692	T	0.17	.	4.3594	0.11194	0.4628:0.0:0.5372:0.0	.	306;138;147;254	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	N	306;254;147;142;147;147;138;129	ENSP00000382963:K306N;ENSP00000262227:K254N;ENSP00000392660:K147N;ENSP00000437262:K142N;ENSP00000313506:K147N;ENSP00000406907:K147N	ENSP00000262227:K254N	K	+	3	2	ARHGAP28	6860695	1.000000	0.71417	0.933000	0.37362	0.975000	0.68041	2.199000	0.42715	1.332000	0.45431	0.655000	0.94253	AAG		0.343	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		T	6870695	G	T	6870695	3	4	22	1	0	0	0	0	1	0	0	0	877	933	33	4	459	4	ARHGAP28	18	6870695	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10		6870695	71206553	102	1557	16	2									
ARHGAP28	79822	hgsc.bcm.edu	37	18	6870698	6870698	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr18:6870698A>T	ENST00000383472.4	+	7	1025	c.921A>T	c.(919-921)aaA>aaT	p.K307N	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.K130N|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.K148N|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.K255N|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.K143N|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.K307N|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.K148N|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.K148N			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	307					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AACTTAAGAAATCAGAGATTA	0.348																																																0													68	78	74					18																	6870698		2203	4299	6502	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.921A>T	chr18.hg19:g.6870698A>T	ENSP00000372964:p.Lys307Asn		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	hg19		.	.	.	.	.	.	.	.	.	.	A	15.85	2.954762	0.53293	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08720	3.22;3.18;3.14;3.14;3.14;3.06	5.22	-2.37	0.06643	.	0.143359	0.64402	D	0.000007	T	0.09379	0.0231	L	0.27053	0.805	0.32678	N	0.51592	D;B;B;B	0.58620	0.983;0.012;0.02;0.01	P;B;B;B	0.55713	0.782;0.014;0.032;0.01	T	0.11867	-1.0570	10	0.15952	T	0.53	.	13.072	0.59068	0.7418:0.0:0.2582:0.0	.	307;139;148;255	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	N	307;255;148;143;148;148;139;130	ENSP00000382963:K307N;ENSP00000262227:K255N;ENSP00000392660:K148N;ENSP00000437262:K143N;ENSP00000313506:K148N;ENSP00000406907:K148N	ENSP00000262227:K255N	K	+	3	2	ARHGAP28	6860698	0.910000	0.30920	0.633000	0.29310	0.960000	0.62799	-0.038000	0.12144	-0.308000	0.08792	-0.242000	0.12053	AAA		0.348	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		T	6870698	A	T	6870698	3	4	22	1	0	0	0	0	1	0	0	0	877	98	4	5	462	5	ARHGAP28	18	6870698	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	3	6870698	71206550	103	1558	16	2									
ANKRD30B	374860	hgsc.bcm.edu	37	18	14852332	14852332	+	Silent	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr18:14852332A>G	ENST00000358984.4	+	36	4212	c.4032A>G	c.(4030-4032)ctA>ctG	p.L1344L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1344										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AACGTCATCTAAACGAGAAAA	0.318																																																0													4	2	3					18																	14852332		592	1263	1855	SO:0001819	synonymous_variant	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.4032A>G	chr18.hg19:g.14852332A>G			B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	hg19	CCDS54182.1																																																																																				0.318	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		G	14852332	A	G	14852332	2	3	22	1	0	0	0	0	0	0	0	1	659	349	13	3		3	ANKRD30B	18	14852332	Silent	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	7981634	14852332	63224916	104	1559											
TNFRSF11A	8792	hgsc.bcm.edu	37	18	60036643	60036643	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr18:60036643A>G	ENST00000586569.1	+	9	1531	c.1493A>G	c.(1492-1494)gAt>gGt	p.D498G	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	498					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GATGGGGCTGATGGGAGGCTC	0.637																																																0													38	42	41					18																	60036643		1924	3761	5685	SO:0001583	missense	8792			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1493A>G	chr18.hg19:g.60036643A>G	ENSP00000465500:p.Asp498Gly		I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	hg19	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606631	0.28623	.	.	ENSG00000141655	ENST00000269485	.	.	.	4.51	1.98	0.26296	.	1.695040	0.03041	N	0.153332	T	0.37404	0.1002	L	0.51422	1.61	0.09310	N	1	B	0.18741	0.03	B	0.13407	0.009	T	0.15065	-1.0450	8	.	.	.	-3.3746	4.8605	0.13581	0.6714:0.1652:0.1634:0.0	.	498	Q9Y6Q6	TNR11_HUMAN	G	498	.	.	D	+	2	0	TNFRSF11A	58187623	0.054000	0.20591	0.002000	0.10522	0.046000	0.14306	0.964000	0.29306	0.744000	0.32741	0.460000	0.39030	GAT		0.637	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			G	60036643	A	G	60036643	3	3	22	1	0	0	0	0	1	0	0	0	16289	333	12	3	1527	3	TNFRSF11A	18	60036643	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	45184311	60036643	18040605	105	1560											
DOT1L	84444	hgsc.bcm.edu	37	19	2194549	2194549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr19:2194549G>A	ENST00000398665.3	+	7	660	c.624G>A	c.(622-624)tgG>tgA	p.W208*		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	208	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGAAATGGTATGGAAAAA	0.607																																																0													104	108	107					19																	2194549		1949	4144	6093	SO:0001587	stop_gained	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.624G>A	chr19.hg19:g.2194549G>A	ENSP00000381657:p.Trp208*		O60379|Q96JL1	Nonsense_Mutation	SNP	ENST00000398665.3	hg19	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	37	6.521979	0.97633	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	.	.	.	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6037	15.8524	0.78943	0.0:0.0:1.0:0.0	.	.	.	.	X	208;208;184	.	ENSP00000221482:W208X	W	+	3	0	DOT1L	2145549	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.122000	0.94380	2.216000	0.71823	0.462000	0.41574	TGG		0.607	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		A	2194549	G	A	2194549	4	1	22	1	0	0	0	0	0	1	0	0	4711	1270	44	2	650	2	DOT1L	19	2194549	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10		2194549	56934434	106	1561											
CHERP	10523	hgsc.bcm.edu	37	19	16643886	16643886	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr19:16643886T>A	ENST00000198939.6	-	4	494	c.458A>T	c.(457-459)gAc>gTc	p.D153V	CHERP_ENST00000546361.2_Missense_Mutation_p.D153V|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CTCGTTCATGTCTAGCTGGGT	0.642																																																0													95	115	108					19																	16643886		2152	4250	6402	SO:0001583	missense	10523			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.458A>T	chr19.hg19:g.16643886T>A	ENSP00000198939:p.Asp153Val			Missense_Mutation	SNP	ENST00000198939.6	hg19		.	.	.	.	.	.	.	.	.	.	T	16.10	3.026403	0.54683	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.26518	1.73;1.76	5.08	5.08	0.68730	ENTH/VHS (1);RNA polymerase II, large subunit, CTD (1);	.	.	.	.	T	0.40196	0.1107	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	T	0.08785	-1.0705	9	0.30854	T	0.27	-28.7397	14.0179	0.64536	0.0:0.0:0.0:1.0	.	153	Q8IWX8	CHERP_HUMAN	V	153	ENSP00000439856:D153V;ENSP00000198939:D153V	ENSP00000198939:D153V	D	-	2	0	CHERP	16504886	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	5.952000	0.70282	1.922000	0.55676	0.402000	0.26972	GAC		0.642	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		A	16643886	T	A	16643886	3	1	22	1	0	0	0	0	1	0	0	0	3338	1667	58	5	2348	5	CHERP	19	16643886	Missense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	14449337	16643886	42485097	107	1562											
UNC13A	23025	hgsc.bcm.edu	37	19	17766949	17766949	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr19:17766949C>A	ENST00000519716.2	-	10	1025	c.1026G>T	c.(1024-1026)gaG>gaT	p.E342D	UNC13A_ENST00000551649.1_Missense_Mutation_p.E342D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E342D|UNC13A_ENST00000552293.1_Missense_Mutation_p.E342D|UNC13A_ENST00000550896.1_Missense_Mutation_p.E342D|UNC13A_ENST00000428389.2_Missense_Mutation_p.E430D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	342	Glu-rich.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						cctccagctcctcctcatctt	0.592																																																0													33	37	36					19																	17766949		2097	4132	6229	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1026G>T	chr19.hg19:g.17766949C>A	ENSP00000429562:p.Glu342Asp		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	8.553	0.875969	0.17395	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.82433	-1.58;-1.61;-1.58;-1.45;-1.44;-1.57	4.56	2.36	0.29203	.	0.284950	0.21761	U	0.069513	T	0.57315	0.2045	N	0.08118	0	0.22317	N	0.999201	B	0.02656	0.0	B	0.01281	0.0	T	0.44742	-0.9308	10	0.05833	T	0.94	-9.3465	4.585	0.12279	0.0:0.5972:0.1803:0.2226	.	342	Q9UPW8	UN13A_HUMAN	D	342;430;342;342;342;342	ENSP00000429562:E342D;ENSP00000400409:E430D;ENSP00000252773:E342D;ENSP00000447236:E342D;ENSP00000447572:E342D;ENSP00000446831:E342D	ENSP00000252773:E342D	E	-	3	2	UNC13A	17627949	0.000000	0.05858	0.996000	0.52242	0.941000	0.58515	0.549000	0.23329	0.849000	0.35215	0.491000	0.48974	GAG		0.592	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		A	17766949	C	A	17766949	3	1	22	1	0	0	0	0	1	0	0	0	16989	680	24	4	4217	4	UNC13A	19	17766949	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	1123063	17766949	41362034	108	1563											
SLC7A9	11136	hgsc.bcm.edu	37	19	33350836	33350836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr19:33350836delG	ENST00000023064.4	-	8	975	c.784delC	c.(784-786)ctgfs	p.L262fs	SLC7A9_ENST00000590341.1_Frame_Shift_Del_p.L262fs|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Frame_Shift_Del_p.L262fs	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	262					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCGTCACCAGGGGGATCCCG	0.612																																					GBM(181;1335 2108 9644 44178 46689)											0													99	81	87					19																	33350836		2203	4300	6503	SO:0001589	frameshift_variant	11136			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.784delC	chr19.hg19:g.33350836delG	ENSP00000023064:p.Leu262fs		B2R9A6	Frame_Shift_Del	DEL	ENST00000023064.4	hg19	CCDS12425.1																																																																																				0.612	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			-	33350836	G	-	33350836	7	5	22	1	0	1	0	1	0	0	0	0	14711	991	35	0	703	0	SLC7A9	19	33350836	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JS-01A-21D-A42J-10	15583887	33350836	25778147	109	1564											
RYR1	6261	hgsc.bcm.edu	37	19	39052079	39052079	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr19:39052079G>C	ENST00000359596.3	+	90	12609	c.12609G>C	c.(12607-12609)caG>caC	p.Q4203H	RYR1_ENST00000360985.3_Missense_Mutation_p.Q4198H|RYR1_ENST00000355481.4_Missense_Mutation_p.Q4198H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4203					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCGCGCCCAGTGGGAGATGC	0.662																																																0													38	32	34					19																	39052079		2202	4300	6502	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12609G>C	chr19.hg19:g.39052079G>C	ENSP00000352608:p.Gln4203His		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487943	0.26686	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97553	-4.43;-4.43;-4.43	3.43	2.39	0.29439	.	0.000000	0.64402	U	0.000004	D	0.98333	0.9447	M	0.90542	3.125	0.47819	D	0.999523	D;D;D	0.64830	0.994;0.994;0.99	D;D;D	0.78314	0.991;0.991;0.979	D	0.98411	1.0572	10	0.87932	D	0	.	10.5699	0.45194	0.0988:0.0:0.9012:0.0	.	4198;4198;4203	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	4203;4198;4198	ENSP00000352608:Q4203H;ENSP00000347667:Q4198H;ENSP00000354254:Q4198H	ENSP00000347667:Q4198H	Q	+	3	2	RYR1	43743919	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.668000	0.61568	0.816000	0.34421	0.298000	0.19748	CAG		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			C	39052079	G	C	39052079	3	2	22	1	0	0	0	0	1	0	0	0	13774	1020	36	4	12967	4	RYR1	19	39052079	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	5701243	39052079	20076904	110	1565											
SCAF1	58506	hgsc.bcm.edu	37	19	50155522	50155522	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr19:50155522A>T	ENST00000360565.3	+	7	2000	c.1876A>T	c.(1876-1878)Agg>Tgg	p.R626W		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	626	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GTCGTCCTCGAGGCGCGAGCG	0.751																																																0													2	2	2					19																	50155522		1455	3069	4524	SO:0001583	missense	58506			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1876A>T	chr19.hg19:g.50155522A>T	ENSP00000353769:p.Arg626Trp		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	hg19	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	A	5.477	0.273021	0.10349	.	.	ENSG00000126461	ENST00000360565	T	0.39229	1.09	3.95	-1.19	0.09585	.	0.000000	0.39475	N	0.001357	T	0.44456	0.1294	L	0.27053	0.805	0.09310	N	0.999997	D	0.71674	0.998	D	0.72338	0.977	T	0.45498	-0.9257	9	.	.	.	-21.7886	11.8881	0.52615	0.3307:0.6693:0.0:0.0	.	626	Q9H7N4	SFR19_HUMAN	W	626	ENSP00000353769:R626W	.	R	+	1	2	SCAF1	54847334	0.854000	0.29725	0.019000	0.16419	0.340000	0.28889	0.835000	0.27531	-0.551000	0.06175	0.459000	0.35465	AGG		0.751	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		T	50155522	A	T	50155522	3	4	22	1	0	0	0	0	1	0	0	0	13874	295	11	5	1898	5	SCAF1	19	50155522	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10	11103443	50155522	8973461	111	1566											
CPT1C	126129	hgsc.bcm.edu	37	19	50209661	50209661	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr19:50209661G>C	ENST00000392518.4	+	12	1706	c.1334G>C	c.(1333-1335)gGc>gCc	p.G445A	CPT1C_ENST00000598293.1_Missense_Mutation_p.G445A|CPT1C_ENST00000354199.5_Missense_Mutation_p.G445A|CPT1C_ENST00000323446.5_Missense_Mutation_p.G445A|CPT1C_ENST00000405931.2_Missense_Mutation_p.G434A	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	445					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCCGGCCGGGGCCATGATCGG	0.637																																																0													10	12	12					19																	50209661		2184	4276	6460	SO:0001583	missense	126129			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1334G>C	chr19.hg19:g.50209661G>C	ENSP00000376303:p.Gly445Ala		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	hg19	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	2.139	-0.397238	0.04899	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73	4.36	3.3	0.37823	.	0.000000	0.48767	D	0.000179	D	0.92984	0.7767	L	0.61218	1.895	0.44652	D	0.997633	D;D;D;D	0.89917	0.999;1.0;0.984;0.988	D;D;P;D	0.91635	0.967;0.999;0.868;0.919	D	0.90301	0.4330	10	0.14656	T	0.56	-29.4364	13.1346	0.59402	0.0:0.1628:0.8372:0.0	.	316;445;434;445	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	A	445;445;434;445;316	ENSP00000376303:G445A;ENSP00000346138:G445A;ENSP00000384465:G434A;ENSP00000319343:G445A	ENSP00000295404:G316A	G	+	2	0	CPT1C	54901473	1.000000	0.71417	0.240000	0.24138	0.004000	0.04260	8.802000	0.91910	1.040000	0.40099	-0.181000	0.13052	GGC		0.637	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		C	50209661	G	C	50209661	3	2	22	1	0	0	0	0	1	0	0	0	3835	1203	42	4	1372	4	CPT1C	19	50209661	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	54139	50209661	8919322	112	1567											
AKT1S1	84335	hgsc.bcm.edu	37	19	50374877	50374877	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr19:50374877G>T	ENST00000391833.1	-	3	2543	c.554C>A	c.(553-555)cCt>cAt	p.P185H	AKT1S1_ENST00000344175.5_Missense_Mutation_p.P185H|AKT1S1_ENST00000391835.1_Missense_Mutation_p.P205H|AKT1S1_ENST00000391834.2_Missense_Mutation_p.P185H|AKT1S1_ENST00000391831.1_Missense_Mutation_p.P185H|AKT1S1_ENST00000391832.3_Missense_Mutation_p.P185H	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CACAGACACAGGCAGGGACTT	0.657																																																0													82	88	86					19																	50374877		2203	4300	6503	SO:0001583	missense	84335			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"proline-rich Akt substrate, 40 kDa"	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.554C>A	chr19.hg19:g.50374877G>T	ENSP00000375709:p.Pro185His			Missense_Mutation	SNP	ENST00000391833.1	hg19	CCDS12784.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200977	0.79015	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831	D;D;D;D;D;D	0.82711	-1.61;-1.61;-1.61;-1.61;-1.64;-1.61	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	L	0.60067	1.865	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	D	0.89888	0.4035	10	0.87932	D	0	-10.2665	14.2818	0.66219	0.0:0.0:1.0:0.0	.	185	Q96B36	AKTS1_HUMAN	H	185;185;185;185;205;185	ENSP00000375709:P185H;ENSP00000341698:P185H;ENSP00000375708:P185H;ENSP00000375710:P185H;ENSP00000375711:P205H;ENSP00000375707:P185H	ENSP00000341698:P185H	P	-	2	0	AKT1S1	55066689	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.823000	0.69272	2.305000	0.77605	0.655000	0.94253	CCT		0.657	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317073.1	NM_032375		T	50374877	G	T	50374877	3	4	22	1	0	0	0	0	1	0	0	0	479	1000	35	4	224	4	AKT1S1	19	50374877	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	165216	50374877	8754106	113	1568											
PCK1	5105	hgsc.bcm.edu	37	20	56139426	56139426	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr20:56139426A>G	ENST00000319441.4	+	7	1327	c.1163A>G	c.(1162-1164)aAt>aGt	p.N388S	PCK1_ENST00000535860.1_Missense_Mutation_p.N256S|PCK1_ENST00000543666.1_Missense_Mutation_p.N71S	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	388					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCCTGGAAGAATAAGGAGTGG	0.577																																																0													84	75	78					20																	56139426		2203	4300	6503	SO:0001583	missense	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1163A>G	chr20.hg19:g.56139426A>G	ENSP00000319814:p.Asn388Ser		A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	hg19	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.056807	0.36277	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.04049	3.72;3.72;3.72	5.2	4.1	0.47936	.	0.080070	0.85682	D	0.000000	T	0.07863	0.0197	M	0.67397	2.05	0.58432	D	0.999995	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.002	T	0.05146	-1.0903	10	0.87932	D	0	-27.5119	10.481	0.44693	0.9211:0.0:0.0789:0.0	.	71;388	B4DT64;P35558	.;PCKGC_HUMAN	S	70;388;71;256	ENSP00000319814:N388S;ENSP00000445767:N71S;ENSP00000444342:N256S	ENSP00000319814:N388S	N	+	2	0	PCK1	55572832	1.000000	0.71417	0.988000	0.46212	0.324000	0.28378	4.873000	0.63057	0.918000	0.36919	0.533000	0.62120	AAT		0.577	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			G	56139426	A	G	56139426	3	3	22	1	0	0	0	0	1	0	0	0	11583	101	4	3	1185	3	PCK1	20	56139426	Missense_Mutation	SNP	A	TCGA-2Z-A9JS-01A-21D-A42J-10		56139426	6886094	114	1569											
OGFR	11054	hgsc.bcm.edu	37	20	61436359	61436359	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr20:61436359G>C	ENST00000290291.6	+	1	173	c.148G>C	c.(148-150)Gcg>Ccg	p.A50P	OGFR_ENST00000370461.1_5'Flank|OGFR-AS1_ENST00000431361.1_RNA	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	50				AAR -> GPE (in Ref. 2). {ECO:0000305}.|DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5). {ECO:0000305}.	opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGAGCCGCGGGCGGCGCGGCC	0.801																																																0													8	12	11					20																	61436359		1504	2710	4214	SO:0001583	missense	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.148G>C	chr20.hg19:g.61436359G>C	ENSP00000290291:p.Ala50Pro		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	hg19	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	5.458	0.269520	0.10349	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163	T;T	0.47177	1.84;0.85	2.24	1.25	0.21368	.	1.107710	0.07007	N	0.824466	T	0.32734	0.0839	N	0.14661	0.345	0.20307	N	0.999915	D	0.61080	0.989	P	0.47573	0.55	T	0.17048	-1.0382	10	0.28530	T	0.3	.	4.5217	0.11962	0.0:0.2882:0.4714:0.2404	.	50	Q9NZT2	OGFR_HUMAN	P	50	ENSP00000290291:A50P;ENSP00000359499:A50P	ENSP00000290291:A50P	A	+	1	0	OGFR	60906804	0.026000	0.19158	0.007000	0.13788	0.045000	0.14185	0.706000	0.25690	0.469000	0.27268	-0.333000	0.08304	GCG		0.801	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			C	61436359	G	C	61436359	3	2	22	1	0	0	0	0	1	0	0	0	10845	1203	42	4	150	4	OGFR	20	61436359	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	5296933	61436359	1589161	115	1570											
EEF1A2	1917	hgsc.bcm.edu	37	20	62126370	62126370	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr20:62126370C>T	ENST00000298049.7	-	3	479	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	EEF1A2_ENST00000217182.3_Missense_Mutation_p.A137T			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	137	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GCCAGCAGGGCATGCTCCCGC	0.657																																																0													94	85	88					20																	62126370		2203	4300	6503	SO:0001583	missense	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.409G>A	chr20.hg19:g.62126370C>T	ENSP00000298049:p.Ala137Thr		B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	hg19	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461676	0.63513	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.71341	-0.56;-0.56	3.88	2.93	0.34026	Protein synthesis factor, GTP-binding (1);	0.125571	0.52532	N	0.000078	T	0.76926	0.4056	L	0.45285	1.41	0.58432	D	0.999999	D;B	0.69078	0.997;0.187	D;B	0.79108	0.992;0.332	T	0.77744	-0.2473	10	0.87932	D	0	-1.4932	11.838	0.52338	0.0:0.9122:0.0:0.0878	.	113;137	Q59GP5;Q05639	.;EF1A2_HUMAN	T	137	ENSP00000298049:A137T;ENSP00000217182:A137T	ENSP00000217182:A137T	A	-	1	0	EEF1A2	61596814	1.000000	0.71417	0.982000	0.44146	0.586000	0.36452	5.950000	0.70265	0.766000	0.33244	-0.671000	0.03813	GCC		0.657	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		T	62126370	C	T	62126370	3	4	22	1	0	0	0	0	1	0	0	0	4926	710	25	2	1002	2	EEF1A2	20	62126370	Missense_Mutation	SNP	C	TCGA-2Z-A9JS-01A-21D-A42J-10	690011	62126370	899150	116	1571											
MYT1	4661	hgsc.bcm.edu	37	20	62843443	62843443	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr20:62843443G>A	ENST00000328439.1	+	9	1833	c.1469G>A	c.(1468-1470)gGc>gAc	p.G490D	MYT1_ENST00000536311.1_Missense_Mutation_p.G490D|MYT1_ENST00000360149.4_Missense_Mutation_p.G192D	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCCACTCCTGGCTGCACAGGC	0.627																																					GBM(59;481 1041 20555 21139 33705)											0													140	129	132					20																	62843443		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1469G>A	chr20.hg19:g.62843443G>A	ENSP00000327465:p.Gly490Asp		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531388	0.64972	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.68331	-0.13;-0.32;1.64	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.84170	0.5413	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87870	0.2670	10	0.87932	D	0	-31.1382	17.4965	0.87719	0.0:0.0:1.0:0.0	.	490;490;192	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	D	192;490;490	ENSP00000353269:G192D;ENSP00000327465:G490D;ENSP00000442412:G490D	ENSP00000327465:G490D	G	+	2	0	MYT1	62313887	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	9.725000	0.98778	2.187000	0.69744	0.557000	0.71058	GGC		0.627	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		A	62843443	G	A	62843443	3	1	22	1	0	0	0	0	1	0	0	0	10108	1203	42	2	1495	2	MYT1	20	62843443	Missense_Mutation	SNP	G	TCGA-2Z-A9JS-01A-21D-A42J-10	717073	62843443	182077	117	1572											
UMODL1	89766	hgsc.bcm.edu	37	21	43505510	43505510	+	Silent	SNP	T	T	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr21:43505510T>A	ENST00000408910.2	+	4	591	c.591T>A	c.(589-591)ctT>ctA	p.L197L	UMODL1_ENST00000408989.2_Silent_p.L197L|UMODL1_ENST00000400427.1_Silent_p.L125L|UMODL1_ENST00000400424.2_Silent_p.L125L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	197					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACATGCGCCTTCTGCATTCCT	0.607																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											0													138	142	141					21																	43505510		1939	4137	6076	SO:0001819	synonymous_variant	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.591T>A	chr21.hg19:g.43505510T>A			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	hg19	CCDS42936.1																																																																																				0.607	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			A	43505510	T	A	43505510	2	1	22	1	0	0	0	0	0	0	0	1	16985	1770	62	5		5	UMODL1	21	43505510	Silent	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10		43505510	4624385	118	1573											
TMPRSS6	164656	hgsc.bcm.edu	37	22	37462120	37462120	+	Nonstop_Mutation	SNP	T	T	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr22:37462120T>C	ENST00000346753.3	-	18	2552	c.2436A>G	c.(2434-2436)tgA>tgG	p.*812W	TMPRSS6_ENST00000406856.1_Nonstop_Mutation_p.*825W|TMPRSS6_ENST00000381792.2_Nonstop_Mutation_p.*825W|TMPRSS6_ENST00000406725.1_Nonstop_Mutation_p.*803W	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	0					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGGCAGTTCCTCAGGTCACCA	0.647																																																0													48	52	51					22																	37462120		2203	4300	6503	SO:0001578	stop_lost	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2436A>G	chr22.hg19:g.37462120T>C	ENSP00000334962:p.*812Cysext*96		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	hg19	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.824874	0.32237	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3168	0.66457	0.0:0.0:0.0:1.0	.	.	.	.	W	825;812;803;825	.	.	X	-	3	0	TMPRSS6	35792066	1.000000	0.71417	0.994000	0.49952	0.458000	0.32498	5.142000	0.64820	1.837000	0.53436	0.482000	0.46254	TGA		0.647	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		C	37462120	T	C	37462120	4	2	22	1	0	0	0	0	0	0	0	0	16256	1564	54	3	3	3	TMPRSS6	22	37462120	Nonstop_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10		37462120	13842446	119	1574											
FBLN1	2192	hgsc.bcm.edu	37	22	45931203	45931203	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr22:45931203T>A	ENST00000327858.6	+	8	1003	c.908T>A	c.(907-909)cTa>cAa	p.L303Q	FBLN1_ENST00000442170.2_Missense_Mutation_p.L303Q|FBLN1_ENST00000402984.3_Missense_Mutation_p.L341Q|FBLN1_ENST00000262722.7_Missense_Mutation_p.L303Q|FBLN1_ENST00000340923.5_Missense_Mutation_p.L303Q|FBLN1_ENST00000348697.2_Missense_Mutation_p.L303Q	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	303	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAAGATGCTCTAGGCAACTGT	0.537																																																0													79	71	74					22																	45931203		2203	4300	6503	SO:0001583	missense	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.908T>A	chr22.hg19:g.45931203T>A	ENSP00000331544:p.Leu303Gln		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	hg19	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	t	17.75	3.466305	0.63625	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.15;-2.89;-2.89	5.47	5.47	0.80525	EGF-like calcium-binding (2);	0.070231	0.64402	D	0.000017	D	0.90800	0.7111	N	0.12637	0.245	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;D;D	0.77557	0.99;0.985;0.971;0.971	D	0.88285	0.2939	10	0.13470	T	0.59	.	15.6182	0.76784	0.0:0.0:0.0:1.0	.	341;303;303;303	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	Q	303;341;303;303;303;303	ENSP00000262723:L303Q;ENSP00000385521:L341Q;ENSP00000262722:L303Q;ENSP00000331544:L303Q;ENSP00000393812:L303Q;ENSP00000342212:L303Q	ENSP00000262722:L303Q	L	+	2	0	FBLN1	44309867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.463000	0.66712	2.101000	0.63845	0.445000	0.29226	CTA		0.537	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		A	45931203	T	A	45931203	3	1	22	1	0	0	0	0	1	0	0	0	5700	1522	53	5	938	5	FBLN1	22	45931203	Missense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	8469083	45931203	5373363	120	1575											
MLC1	23209	hgsc.bcm.edu	37	22	50502534	50502534	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JS-01A-21D-A42J-10	TCGA-2Z-A9JS-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	db0ca5a7-1470-4807-90f7-ef557c434e28	518e7145-530f-4cb8-a90b-bcf9ecab7b98	g.chr22:50502534T>C	ENST00000311597.5	-	11	1594	c.988A>G	c.(988-990)Aag>Gag	p.K330E	MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Missense_Mutation_p.K296E|MLC1_ENST00000431262.2_Missense_Mutation_p.K300E|MLC1_ENST00000450140.2_Missense_Mutation_p.K278E|MLC1_ENST00000395876.2_Missense_Mutation_p.K330E|MLC1_ENST00000535444.1_Missense_Mutation_p.K251E	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	330					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCACTGACCTTGAAGCGCACG	0.677																																																0													50	46	47					22																	50502534		2203	4300	6503	SO:0001583	missense	23209			D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.988A>G	chr22.hg19:g.50502534T>C	ENSP00000310375:p.Lys330Glu		B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	hg19	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	t	16.64	3.178544	0.57692	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140	D;D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4;-3.4	3.99	2.9	0.33743	.	0.098520	0.64402	D	0.000002	D	0.94997	0.8381	M	0.68952	2.095	0.49389	D	0.999786	D;D;D;D	0.71674	0.996;0.998;0.996;0.998	D;D;D;D	0.78314	0.987;0.991;0.987;0.991	D	0.93639	0.6963	10	0.87932	D	0	-29.1483	7.6427	0.28303	0.0:0.0:0.2162:0.7838	.	296;300;278;330	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	E	330;330;296;300;251;278	ENSP00000379216:K330E;ENSP00000310375:K330E;ENSP00000445805:K296E;ENSP00000415877:K300E;ENSP00000438910:K251E;ENSP00000412448:K278E	ENSP00000310375:K330E	K	-	1	0	MLC1	48844661	0.753000	0.28349	0.958000	0.39756	0.472000	0.32918	0.549000	0.23329	0.616000	0.30141	0.454000	0.30748	AAG		0.677	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		C	50502534	T	C	50502534	3	2	22	1	0	0	0	0	1	0	0	0	9614	1821	63	3	153	3	MLC1	22	50502534	Missense_Mutation	SNP	T	TCGA-2Z-A9JS-01A-21D-A42J-10	4571331	50502534	802032	121	1576											
TESK2	10420	hgsc.bcm.edu	37	1	45811638	45811638	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr1:45811638A>C	ENST00000372086.3	-	10	1308	c.908T>G	c.(907-909)gTg>gGg	p.V303G	TESK2_ENST00000341771.6_Missense_Mutation_p.V274G|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.V274G|TESK2_ENST00000538496.1_Missense_Mutation_p.V220G	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CCCAATCTCCACAAAAGATGG	0.522																																																0													74	72	73					1																	45811638		1899	4113	6012	SO:0001583	missense	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.908T>G	chr1.hg19:g.45811638A>C	ENSP00000361158:p.Val303Gly		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	hg19	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766844	0.31320	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;D;T;D	0.82526	-0.19;-1.62;-0.19;-1.62	5.54	-0.102	0.13613	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.750938	0.12432	N	0.469475	T	0.64450	0.2599	N	0.13272	0.32	0.80722	D	1	B;B	0.14012	0.009;0.002	B;B	0.22152	0.038;0.027	T	0.46610	-0.9179	10	0.20519	T	0.43	-0.5571	4.8888	0.13717	0.4968:0.0:0.3572:0.146	.	274;303	Q96S53-3;Q96S53	.;TESK2_HUMAN	G	274;303;287;274;220	ENSP00000361156:V274G;ENSP00000361158:V303G;ENSP00000343940:V274G;ENSP00000441746:V220G	ENSP00000343940:V274G	V	-	2	0	TESK2	45584225	0.438000	0.25602	1.000000	0.80357	0.997000	0.91878	0.273000	0.18662	0.055000	0.16094	0.456000	0.33151	GTG		0.522	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		C	45811638	A	C	45811638	3	2	23	1	0	0	0	0	1	0	0	0	15773	159	6	5	815	5	TESK2	1	45811638	Missense_Mutation	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10		45811638	203438983	1	1577											
AMPD2	271	hgsc.bcm.edu	37	1	110168296	110168296	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr1:110168296C>T	ENST00000256578.3	+	3	757	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	AMPD2_ENST00000528667.1_Missense_Mutation_p.R133C|AMPD2_ENST00000393688.3_Missense_Mutation_p.R14C|AMPD2_ENST00000528454.1_Missense_Mutation_p.R15C|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.R58C|AMPD2_ENST00000342115.4_Missense_Mutation_p.R52C	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	133					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCTGTTCACCCGCTCACTGGC	0.672																																																0													49	56	54					1																	110168296		2203	4300	6503	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.397C>T	chr1.hg19:g.110168296C>T	ENSP00000256578:p.Arg133Cys		B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	hg19	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.865184|4.865184	0.91511|0.91511	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000531734;ENST00000342115;ENST00000528667;ENST00000531203;ENST00000256578;ENST00000358729;ENST00000527846;ENST00000528454;ENST00000393688	.|T;T;T;T;T;T;T;D	.|0.87809	.|1.12;1.12;1.12;1.12;1.18;1.12;1.18;-2.3	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.164918	.|0.56097	.|D	.|0.000040	D|D	0.90851|0.90851	0.7126|0.7126	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.999	.|D;D;P;P	.|0.80764	.|0.994;0.911;0.858;0.881	D|D	0.91649|0.91649	0.5333|0.5333	5|10	.|0.72032	.|D	.|0.01	-29.6856|-29.6856	16.8712|16.8712	0.86041|0.86041	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|58;14;133;52	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	L|C	103|52;52;133;15;133;58;100;15;14	.|ENSP00000433739:R52C;ENSP00000345498:R52C;ENSP00000436541:R133C;ENSP00000256578:R133C;ENSP00000351573:R58C;ENSP00000431904:R100C;ENSP00000437164:R15C;ENSP00000377292:R14C	.|ENSP00000256578:R133C	P|R	+|+	2|1	0|0	AMPD2|AMPD2	109969819|109969819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	7.353000|7.353000	0.79414|0.79414	2.506000|2.506000	0.84524|0.84524	0.462000|0.462000	0.41574|0.41574	CCG|CGC		0.672	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			T	110168296	C	T	110168296	3	4	23	1	0	0	0	0	1	0	0	0	586	652	23	1	448	1	AMPD2	1	110168296	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	64356658	110168296	139082325	2	1578											
HAO2	51179	hgsc.bcm.edu	37	1	119935262	119935263	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr1:119935262_119935263delGT	ENST00000325945.3	+	7	1025_1026	c.952_953delGT	c.(952-954)gttfs	p.V318fs	HAO2_ENST00000482991.1_3'UTR|HAO2_ENST00000361035.4_Frame_Shift_Del_p.V331fs	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	318	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGTTAAGGAAGTTTTGAACATT	0.401																																																0																																										SO:0001589	frameshift_variant	51179			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.952_953delGT	chr1.hg19:g.119935262_119935263delGT	ENSP00000316339:p.Val318fs		Q2TU86|Q5QP00|Q9UJS6	Frame_Shift_Del	DEL	ENST00000325945.3	hg19	CCDS901.1																																																																																				0.401	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		-	119935263	GT	-	119935262	7	5	23	1	0	1	0	1	0	0	0	0	6954	1029	36	0	974	0	HAO2	1	119935262	Frame_Shift_Del	DEL	GT	TCGA-2Z-A9JT-01A-11D-A42J-10	9766966	119935262	129315359	3	1579											
ITGA10	8515	hgsc.bcm.edu	37	1	145536864	145536864	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr1:145536864T>G	ENST00000369304.3	+	18	2419	c.2244T>G	c.(2242-2244)gaT>gaG	p.D748E	ITGA10_ENST00000539363.1_Missense_Mutation_p.D605E|ITGA10_ENST00000538811.1_Missense_Mutation_p.D617E	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	748					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATACATCAGATTACCTCCGGC	0.468																																																0													190	175	180					1																	145536864		2203	4300	6503	SO:0001583	missense	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2244T>G	chr1.hg19:g.145536864T>G	ENSP00000358310:p.Asp748Glu		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	hg19	CCDS918.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.409932	0.62399	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.78481	-1.18;-1.18;-1.18	5.16	1.57	0.23409	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	L	0.55213	1.73	0.41709	D	0.989441	D;D;D;D	0.89917	1.0;0.985;0.991;1.0	D;D;P;D	0.81914	0.987;0.918;0.901;0.995	T	0.75714	-0.3221	10	0.87932	D	0	.	5.9093	0.19018	0.0:0.3292:0.0:0.6708	.	714;617;605;748	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	E	748;714;605;617	ENSP00000358310:D748E;ENSP00000439894:D605E;ENSP00000440011:D617E	ENSP00000358310:D748E	D	+	3	2	ITGA10	144248221	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	0.925000	0.28791	0.446000	0.26666	0.374000	0.22700	GAT		0.468	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		G	145536864	T	G	145536864	3	3	23	1	0	0	0	0	1	0	0	0	7875	1490	52	5	2314	5	ITGA10	1	145536864	Missense_Mutation	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	25601602	145536864	103713757	4	1580											
TOR1AIP2	163590	hgsc.bcm.edu	37	1	179834169	179834169	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr1:179834169T>C	ENST00000553856.1	-	1	142	c.143A>G	c.(142-144)tAt>tGt	p.Y48C	TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000609928.1_Intron|TOR1AIP2_ENST00000482587.1_5'UTR	NM_022347.3	NP_071742.1	Q9H496	IFG15_HUMAN		48																	CTCAGGACAATAATCAGCTCT	0.433																																																0													174	171	172					1																	179834169		1888	4104	5992	SO:0001583	missense	163590																														ENST00000553856.1:c.143A>G	chr1.hg19:g.179834169T>C	ENSP00000452581:p.Tyr48Cys		Q05BU2	Missense_Mutation	SNP	ENST00000553856.1	hg19	CCDS53439.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984540	0.35036	.	.	ENSG00000258664	ENST00000553856	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	T	0.48572	0.1507	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.46303	-0.9201	7	.	.	.	.	11.0179	0.47701	0.0:0.0:0.0:1.0	.	48	Q9H496	.	C	48	.	.	Y	-	2	0	AL359853.3	178100792	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	2.978000	0.49305	2.371000	0.80710	0.533000	0.62120	TAT		0.433	IFRG15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	179834169	T	C	179834169	3	2	23	1	0	0	0	0	1	0	0	0	16378	1406	49	3	1685	3	TOR1AIP2	1	179834169	Missense_Mutation	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	34297305	179834169	69416452	5	1581											
MR1	3140	hgsc.bcm.edu	37	1	181021439	181021439	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr1:181021439C>T	ENST00000367580.5	+	4	678	c.673C>T	c.(673-675)Cat>Tat	p.H225Y	MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.H180Y	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	225	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	CTGCAAAGCTCATGGCTTTTA	0.428																																					Colon(174;1412 1962 45296 46549 47110)											0													55	56	56					1																	181021439		2203	4300	6503	SO:0001583	missense	3140			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.673C>T	chr1.hg19:g.181021439C>T	ENSP00000356552:p.His225Tyr		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	hg19	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	C	8.090	0.774344	0.16051	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	T;T	0.02737	4.18;4.18	4.52	-2.19	0.07015	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.629307	0.14989	N	0.286793	T	0.01454	0.0047	N	0.03029	-0.43	0.47476	D	0.999438	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.51004	-0.8760	10	0.87932	D	0	.	10.6879	0.45854	0.0:0.3901:0.0:0.6099	.	180;225	Q95460-2;Q95460	.;HMR1_HUMAN	Y	225;180	ENSP00000356552:H225Y;ENSP00000356551:H180Y	ENSP00000356551:H180Y	H	+	1	0	MR1	179288062	0.021000	0.18746	0.881000	0.34555	0.754000	0.42855	-0.563000	0.05943	-0.583000	0.05921	-1.731000	0.00696	CAT		0.428	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		T	181021439	C	T	181021439	3	4	23	1	0	0	0	0	1	0	0	0	9754	826	29	2	687	2	MR1	1	181021439	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	1187270	181021439	68229182	6	1582											
PRKD3	23683	hgsc.bcm.edu	37	2	37501808	37501808	+	Silent	SNP	A	A	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr2:37501808A>T	ENST00000379066.1	-	11	2169	c.1407T>A	c.(1405-1407)tcT>tcA	p.S469S	PRKD3_ENST00000234179.2_Silent_p.S469S			O94806	KPCD3_HUMAN	protein kinase D3	469	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTCGTGGTGAAGATATGCGGA	0.323																																					Melanoma(80;621 1355 8613 11814 51767)											0													59	56	57					2																	37501808		2203	4300	6503	SO:0001819	synonymous_variant	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1407T>A	chr2.hg19:g.37501808A>T			D6W587|Q53TR7|Q8NEL8	Silent	SNP	ENST00000379066.1	hg19	CCDS1789.1																																																																																				0.323	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		T	37501808	A	T	37501808	2	4	23	1	0	0	0	0	0	0	0	1	12525	59	3	5		5	PRKD3	2	37501808	Silent	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10		37501808	205697565	7	1583											
ADD2	119	hgsc.bcm.edu	37	2	70931469	70931469	+	Silent	SNP	G	G	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr2:70931469G>A	ENST00000264436.4	-	4	750	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ADD2_ENST00000413157.2_Silent_p.F102F|ADD2_ENST00000407644.2_Silent_p.F102F|ADD2_ENST00000355733.3_Silent_p.F102F|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000430656.1_Silent_p.F118F	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	102					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AAGATGTCGGGAAGACTGCGT	0.602																																																0													131	113	119					2																	70931469		2203	4300	6503	SO:0001819	synonymous_variant	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.306C>T	chr2.hg19:g.70931469G>A			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	hg19	CCDS1906.1																																																																																				0.602	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		A	70931469	G	A	70931469	2	1	23	1	0	0	0	0	0	0	0	1	305	1165	41	2		2	ADD2	2	70931469	Silent	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	33429661	70931469	172267904	8	1584											
CNNM4	26504	hgsc.bcm.edu	37	2	97428100	97428100	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr2:97428100A>G	ENST00000377075.2	+	1	1462	c.1364A>G	c.(1363-1365)gAc>gGc	p.D455G		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	455	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTCTTCCATGACACCAAGTTG	0.527																																																0													103	98	100					2																	97428100		2203	4300	6503	SO:0001583	missense	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1364A>G	chr2.hg19:g.97428100A>G	ENSP00000366275:p.Asp455Gly		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	hg19	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216564	0.58452	.	.	ENSG00000158158	ENST00000377075	D	0.95137	-3.62	5.26	5.26	0.73747	Cystathionine beta-synthase, core (2);	0.000000	0.85682	D	0.000000	D	0.95705	0.8603	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96259	0.9189	10	0.87932	D	0	-14.3599	14.1805	0.65572	1.0:0.0:0.0:0.0	.	455	Q6P4Q7	CNNM4_HUMAN	G	455	ENSP00000366275:D455G	ENSP00000366275:D455G	D	+	2	0	CNNM4	96791827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.281000	0.95811	1.996000	0.58369	0.533000	0.62120	GAC		0.527	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		G	97428100	A	G	97428100	3	3	23	1	0	0	0	0	1	0	0	0	3617	275	10	3	1366	3	CNNM4	2	97428100	Missense_Mutation	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10	26496631	97428100	145771273	9	1585											
MRPS9	64965	hgsc.bcm.edu	37	2	105654555	105654555	+	Missense_Mutation	SNP	C	C	T	rs149402894	byFrequency	TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr2:105654555C>T	ENST00000258455.3	+	1	115	c.5C>T	c.(4-6)gCg>gTg	p.A2V	AC010884.1_ENST00000456519.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	2					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCTAACATGGCGGCGCCCTGT	0.677													C|||	3	0.000599042	0.0	0.0014	5008	,	,		14716	0.0		0.0	False		,,,				2504	0.002															0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	30	30	30		5	3.9	1	2	dbSNP_134	30	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MRPS9	NM_182640.2	64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	probably-damaging	2/397	105654555	5,13001	2203	4300	6503	SO:0001583	missense	64965				CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"Mitochondrial ribosomal proteins / small subunits"	14501	protein-coding gene	gene with protein product	"28S ribosomal protein S9, mitochondrial"	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.5C>T	chr2.hg19:g.105654555C>T	ENSP00000258455:p.Ala2Val		Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	hg19	CCDS2065.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203247	0.38905	2.27E-4	4.65E-4	ENSG00000135972	ENST00000258455	T	0.52754	0.65	4.82	3.94	0.45596	.	0.062495	0.64402	N	0.000007	T	0.45597	0.1350	M	0.79475	2.455	0.41050	D	0.985296	B	0.29232	0.238	B	0.17979	0.02	T	0.52208	-0.8606	10	0.72032	D	0.01	-16.2181	9.4342	0.38628	0.0:0.9023:0.0:0.0977	.	2	P82933	RT09_HUMAN	V	2	ENSP00000258455:A2V	ENSP00000258455:A2V	A	+	2	0	MRPS9	105020987	1.000000	0.71417	0.998000	0.56505	0.265000	0.26407	1.884000	0.39668	1.376000	0.46267	0.655000	0.94253	GCG		0.677	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		T	105654555	C	T	105654555	3	4	23	1	0	0	0	0	1	0	0	0	9851	768	27	1	7	1	MRPS9	2	105654555	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	8226455	105654555	137544818	10	1586											
SAP130	79595	hgsc.bcm.edu	37	2	128774008	128774008	+	Silent	SNP	G	G	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr2:128774008G>T	ENST00000259235.3	-	4	669	c.540C>A	c.(538-540)atC>atA	p.I180I	SAP130_ENST00000357702.5_Silent_p.I180I|SAP130_ENST00000259234.6_Silent_p.I154I	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	180					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAGCTTGAGGGATGCTACTCT	0.493																																																0													128	120	123					2																	128774008		2203	4300	6503	SO:0001819	synonymous_variant	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.540C>A	chr2.hg19:g.128774008G>T			B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	hg19	CCDS2153.1																																																																																				0.493	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		T	128774008	G	T	128774008	2	4	23	1	0	0	0	0	0	0	0	1	13837	1164	41	4		4	SAP130	2	128774008	Silent	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	23119453	128774008	114425365	11	1587											
LRP2	4036	hgsc.bcm.edu	37	2	170063527	170063532	+	In_Frame_Del	DEL	TGACAA	TGACAA	-			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	TGACAA	TGACAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr2:170063527_170063532delTGACAA	ENST00000263816.3	-	39	6983_6988	c.6698_6703delTTGTCA	c.(6697-6705)attgtcaca>aca	p.IV2233del		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2233					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CCCCGTGGTGTGACAATGCCCTCTGA	0.461																																																0																																										SO:0001651	inframe_deletion	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6698_6703delTTGTCA	chr2.hg19:g.170063527_170063532delTGACAA	ENSP00000263816:p.Ile2233_Val2234del		O00711|Q16215	In_Frame_Del	DEL	ENST00000263816.3	hg19	CCDS2232.1																																																																																				0.461	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		-	170063532	TGACAA	-	170063527	7	5	23	1	0	1	0	1	0	0	0	0	8958	1696	59	0	7428	0	LRP2	2	170063527	In_Frame_Del	DEL	TGACAA	TCGA-2Z-A9JT-01A-11D-A42J-10	41289519	170063527	73135846	12	1588											
MST1	327	hgsc.bcm.edu	37	3	49723551	49723551	+	IGR	SNP	A	A	G	rs199957562		TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr3:49723551A>G	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.M364T|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.M350T(3)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCGCGCGCATGCCGGGCCG	0.667																																																3	Substitution - Missense(3)	NS(2)|skin(1)											13	16	15					3																	49723551		2196	4289	6485	SO:0001628	intergenic_variant	4485			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		chr3.hg19:g.49723551A>G			Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	hg19	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937159	0.52972	.	.	ENSG00000173531	ENST00000449682	T	0.61510	0.1	5.4	4.17	0.49024	.	0.132069	0.34338	N	0.004055	T	0.35508	0.0934	N	0.04805	-0.155	0.80722	D	1	B	0.09022	0.002	B	0.17979	0.02	T	0.24083	-1.0170	10	0.51188	T	0.08	.	10.9733	0.47450	0.86:0.0:0.0:0.14	.	364	G3XAK1	.	T	364	ENSP00000414287:M364T	ENSP00000414287:M364T	M	-	2	0	MST1	49698555	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	7.395000	0.79876	2.042000	0.60477	0.533000	0.62120	ATG		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			G	49723551	A	G	49723551	1	3	23	0	1	0	0	0	0	0	0	0	9892	217	8	3		3	MST1	3	49723551	IGR	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10		49723551	148298879	13	1589											
MAGI1	9223	hgsc.bcm.edu	37	3	65425621	65425622	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr3:65425621_65425622delCT	ENST00000497477.2	-	9	1201_1202	c.1202_1203delAG	c.(1201-1203)gagfs	p.E401fs	MAGI1_ENST00000402939.2_Frame_Shift_Del_p.E401fs|MAGI1_ENST00000330909.8_Frame_Shift_Del_p.E401fs|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E401fs			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	401					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctCAAGCTGCTT	0.505											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1202_1203delAG	chr3.hg19:g.65425621_65425622delCT	ENSP00000424369:p.Glu401fs	1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000497477.2	hg19																																																																																					0.505	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		-	65425622	CT	-	65425621	7	5	23	1	0	1	0	1	0	0	0	0	9192	796	28	0	3479	0	MAGI1	3	65425621	Frame_Shift_Del	DEL	CT	TCGA-2Z-A9JT-01A-11D-A42J-10	15702070	65425621	132596809	14	1590											
SKIL	6498	hgsc.bcm.edu	37	3	170079027	170079027	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr3:170079027T>C	ENST00000458537.3	+	1	1617	c.908T>C	c.(907-909)tTt>tCt	p.F303S	SKIL_ENST00000426052.2_Missense_Mutation_p.F283S|SKIL_ENST00000413427.2_Missense_Mutation_p.F303S|SKIL_ENST00000259119.4_Missense_Mutation_p.F303S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	303					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCCCAGACGTTTGTGATGCAT	0.433																																																0													137	131	133					3																	170079027		2203	4300	6503	SO:0001583	missense	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.908T>C	chr3.hg19:g.170079027T>C	ENSP00000415243:p.Phe303Ser		A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	hg19	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.544136	0.86022	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.97994	-4.65;-4.64;-4.58;-4.65	5.83	5.83	0.93111	SAND domain-like (2);c-SKI Smad4-binding (1);	0.045464	0.85682	D	0.000000	D	0.98773	0.9587	M	0.85197	2.74	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99826	1.1050	10	0.87932	D	0	-22.9726	16.2481	0.82460	0.0:0.0:0.0:1.0	.	303;303	P12757-3;P12757	.;SKIL_HUMAN	S	303;283;303;303	ENSP00000259119:F303S;ENSP00000406520:F283S;ENSP00000400193:F303S;ENSP00000415243:F303S	ENSP00000259119:F303S	F	+	2	0	SKIL	171561721	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	7.698000	0.84413	2.241000	0.73720	0.524000	0.50904	TTT		0.433	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		C	170079027	T	C	170079027	3	2	23	1	0	0	0	0	1	0	0	0	14364	1841	64	3	910	3	SKIL	3	170079027	Missense_Mutation	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	104653406	170079027	27943403	15	1591											
FAM131A	131408	hgsc.bcm.edu	37	3	184062561	184062561	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr3:184062561C>G	ENST00000310585.4	+	3	2175	c.811C>G	c.(811-813)Cag>Gag	p.Q271E	FAM131A_ENST00000418281.1_Missense_Mutation_p.Q179E|FAM131A_ENST00000340957.5_Missense_Mutation_p.Q217E|FAM131A_ENST00000453072.1_Missense_Mutation_p.Q217E|FAM131A_ENST00000450976.1_Missense_Mutation_p.Q217E|FAM131A_ENST00000383847.2_Missense_Mutation_p.Q302E|EIF2B5_ENST00000444495.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	271						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACTGGAGGCCCAGGACTCACT	0.687																																																0													43	53	49					3																	184062561		2202	4299	6501	SO:0001583	missense	131408			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 40"	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.811C>G	chr3.hg19:g.184062561C>G	ENSP00000310135:p.Gln271Glu		D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	ENST00000310585.4	hg19		.	.	.	.	.	.	.	.	.	.	c	4.836	0.155381	0.09236	.	.	ENSG00000175182	ENST00000450976;ENST00000418281;ENST00000340957;ENST00000418768;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	4.73	4.73	0.59995	.	0.719434	0.14165	N	0.337106	T	0.12347	0.0300	N	0.22421	0.69	0.34151	D	0.667488	B;B;P	0.38250	0.017;0.035;0.624	B;B;B	0.33960	0.013;0.027;0.173	T	0.03619	-1.1019	10	0.06494	T	0.89	-22.0175	13.4502	0.61167	0.0:0.8428:0.1572:0.0	.	271;302;179	Q6UXB0;G5E9B1;C9JPT9	F131A_HUMAN;.;.	E	217;179;217;217;302;217;271	ENSP00000388551:Q217E;ENSP00000414050:Q179E;ENSP00000340974:Q217E;ENSP00000414913:Q217E;ENSP00000373360:Q302E;ENSP00000390588:Q217E;ENSP00000310135:Q271E	ENSP00000310135:Q271E	Q	+	1	0	FAM131A	185545255	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.805000	0.55575	2.170000	0.68504	0.655000	0.94253	CAG		0.687	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		G	184062561	C	G	184062561	3	3	23	1	0	0	0	0	1	0	0	0	5441	595	21	4	926	4	FAM131A	3	184062561	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	13983534	184062561	13959869	16	1592											
HGFAC	3083	hgsc.bcm.edu	37	4	3446365	3446365	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr4:3446365C>A	ENST00000382774.3	+	7	861	c.746C>A	c.(745-747)cCt>cAt	p.P249H	HGFAC_ENST00000511533.1_Missense_Mutation_p.P249H	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	249	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGAGCAGCCCTTGCCTGAAC	0.716																																																0													14	16	15					4																	3446365		2187	4281	6468	SO:0001583	missense	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.746C>A	chr4.hg19:g.3446365C>A	ENSP00000372224:p.Pro249His		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	hg19	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258728	0.59321	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.95171	-3.63;-3.63	3.44	2.59	0.31030	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96744	0.8937	M	0.89478	3.035	0.43617	D	0.995997	D;D	0.89917	1.0;0.959	D;P	0.79784	0.993;0.772	D	0.95496	0.8573	10	0.87932	D	0	.	6.5776	0.22575	0.0:0.8626:0.0:0.1374	.	249;249	D6RAR4;Q04756	.;HGFA_HUMAN	H	249	ENSP00000372224:P249H;ENSP00000421801:P249H	ENSP00000372224:P249H	P	+	2	0	HGFAC	3416163	0.002000	0.14202	0.962000	0.40283	0.793000	0.44817	0.145000	0.16157	0.782000	0.33613	0.462000	0.41574	CCT		0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			A	3446365	C	A	3446365	3	1	23	1	0	0	0	0	1	0	0	0	7088	681	24	4	772	4	HGFAC	4	3446365	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10		3446365	187707911	17	1593											
LRRC66	339977	hgsc.bcm.edu	37	4	52861855	52861855	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr4:52861855C>T	ENST00000343457.3	-	4	1339	c.1333G>A	c.(1333-1335)Gta>Ata	p.V445I		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	445						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAGGAAATACTTGGCGCAGA	0.552																																																0													100	106	104					4																	52861855		2046	4191	6237	SO:0001583	missense	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1333G>A	chr4.hg19:g.52861855C>T	ENSP00000341944:p.Val445Ile			Missense_Mutation	SNP	ENST00000343457.3	hg19	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339748	0.24339	.	.	ENSG00000188993	ENST00000343457	T	0.45276	0.9	3.89	-2.63	0.06133	.	1.981150	0.02460	N	0.086453	T	0.20618	0.0496	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.06917	-1.0800	10	0.37606	T	0.19	4.8277	1.4223	0.02314	0.1424:0.2988:0.1409:0.4179	.	445	Q68CR7	LRC66_HUMAN	I	445	ENSP00000341944:V445I	ENSP00000341944:V445I	V	-	1	0	LRRC66	52556612	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.354000	0.07681	-0.779000	0.04560	0.467000	0.42956	GTA		0.552	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		T	52861855	C	T	52861855	3	4	23	1	0	0	0	0	1	0	0	0	9020	565	20	2	1313	2	LRRC66	4	52861855	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	49415490	52861855	138292421	18	1594											
WDFY3	23001	hgsc.bcm.edu	37	4	85642588	85642588	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr4:85642588G>T	ENST00000295888.4	-	47	7986	c.7579C>A	c.(7579-7581)Ctg>Atg	p.L2527M	WDFY3_ENST00000322366.6_Missense_Mutation_p.L2510M	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2527	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACAGGCGCAGTAAGGTAGCA	0.428																																																0													211	196	201					4																	85642588		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7579C>A	chr4.hg19:g.85642588G>T	ENSP00000295888:p.Leu2527Met		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544984	0.65198	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.67171	-0.25;-0.23;-0.22	5.77	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	N	0.24115	0.695	0.80722	D	1	D	0.59357	0.985	P	0.49887	0.625	T	0.57057	-0.7876	10	0.21540	T	0.41	.	15.2503	0.73539	0.0676:0.0:0.9324:0.0	.	2527	Q8IZQ1	WDFY3_HUMAN	M	2510;2527;130	ENSP00000318466:L2510M;ENSP00000295888:L2527M;ENSP00000424987:L130M	ENSP00000295888:L2527M	L	-	1	2	WDFY3	85861612	1.000000	0.71417	0.908000	0.35775	0.810000	0.45777	6.376000	0.73141	1.585000	0.49928	0.585000	0.79938	CTG		0.428	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		T	85642588	G	T	85642588	3	4	23	1	0	0	0	0	1	0	0	0	17275	1020	36	4	3089	4	WDFY3	4	85642588	Missense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	32780733	85642588	105511688	19	1595											
SLC38A9	153129	hgsc.bcm.edu	37	5	54965109	54965109	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr5:54965109C>G	ENST00000396865.2	-	7	1064	c.473G>C	c.(472-474)gGc>gCc	p.G158A	SLC38A9_ENST00000539768.1_Missense_Mutation_p.G158A|SLC38A9_ENST00000512595.1_Missense_Mutation_p.G131A|SLC38A9_ENST00000416547.2_Missense_Mutation_p.G34A|SLC38A9_ENST00000318672.3_Missense_Mutation_p.G158A|SLC38A9_ENST00000515629.1_Missense_Mutation_p.G95A	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	158					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TGTTAAAAGGCCCATCAGTAT	0.328																																																0													187	190	189					5																	54965109		2203	4300	6503	SO:0001583	missense	153129				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"Solute carriers"	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.473G>C	chr5.hg19:g.54965109C>G	ENSP00000380074:p.Gly158Ala		B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	hg19	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982358	0.53827	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000512595;ENST00000511233;ENST00000512208;ENST00000503817	T;T;T;T;T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42;4.42;4.42;4.42;4.42	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.05686	0.0149	N	0.26130	0.795	0.80722	D	1	D;D	0.67145	0.957;0.996	P;D	0.72075	0.615;0.976	T	0.46582	-0.9181	10	0.02654	T	1	-18.6055	19.3048	0.94157	0.0:1.0:0.0:0.0	.	131;158	B3KXV1;Q8NBW4	.;S38A9_HUMAN	A	158;158;158;95;34;131;158;95;95	ENSP00000380074:G158A;ENSP00000316596:G158A;ENSP00000437771:G158A;ENSP00000420934:G95A;ENSP00000397429:G34A;ENSP00000427335:G131A;ENSP00000423219:G158A;ENSP00000426413:G95A;ENSP00000424918:G95A	ENSP00000316596:G158A	G	-	2	0	SLC38A9	55000866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.065000	0.76727	2.622000	0.88805	0.650000	0.86243	GGC		0.328	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		G	54965109	C	G	54965109	3	3	23	1	0	0	0	0	1	0	0	0	14617	739	26	4	1252	4	SLC38A9	5	54965109	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10		54965109	125950151	20	1596											
RASA1	5921	hgsc.bcm.edu	37	5	86665669	86665669	+	Silent	SNP	A	A	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr5:86665669A>G	ENST00000274376.6	+	12	2214	c.1650A>G	c.(1648-1650)gaA>gaG	p.E550E	RASA1_ENST00000456692.2_Silent_p.E373E|RASA1_ENST00000512763.1_Silent_p.E383E|RASA1_ENST00000506290.1_Silent_p.E384E	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	550	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACTTTAGTGAAGAACATTACA	0.303																																																0													67	66	67					5																	86665669		2203	4297	6500	SO:0001819	synonymous_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1650A>G	chr5.hg19:g.86665669A>G			B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	hg19	CCDS34200.1																																																																																				0.303	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		G	86665669	A	G	86665669	2	3	23	1	0	0	0	0	0	0	0	1	13066	69	3	3		3	RASA1	5	86665669	Silent	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10	31700560	86665669	94249591	21	1597											
SEMA6A	57556	hgsc.bcm.edu	37	5	115782689	115782689	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr5:115782689C>G	ENST00000343348.6	-	19	3500	c.2713G>C	c.(2713-2715)Gaa>Caa	p.E905Q	SEMA6A_ENST00000282394.6_Missense_Mutation_p.E382Q|SEMA6A_ENST00000510263.1_Missense_Mutation_p.E905Q|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.E922Q|SEMA6A_ENST00000513137.1_Missense_Mutation_p.E332Q|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503865.1_Missense_Mutation_p.E284Q|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	905					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGGTGCATTTCCAGCCGCTTG	0.602																																																0													67	75	72					5																	115782689		1955	4151	6106	SO:0001583	missense	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2713G>C	chr5.hg19:g.115782689C>G	ENSP00000345512:p.Glu905Gln		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	hg19	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.01|16.01	3.000846|3.000846	0.54254|0.54254	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263|ENST00000515129	T;T;T;T;T;T|.	0.50813|.	2.14;2.16;0.73;2.57;0.75;2.14|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.531003|.	0.18032|.	N|.	0.153898|.	T|T	0.54870|0.54870	0.1885|0.1885	N|N	0.22421|0.22421	0.69|0.69	0.54753|0.54753	D|D	0.99998|0.99998	B;B;D;P;P;P|.	0.56746|.	0.241;0.376;0.977;0.592;0.856;0.787|.	B;B;P;P;P;P|.	0.52514|.	0.192;0.23;0.701;0.479;0.464;0.479|.	T|T	0.50406|0.50406	-0.8832|-0.8832	10|5	0.51188|.	T|.	0.08|.	.|.	18.3652|18.3652	0.90388|0.90388	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	284;905;449;922;382;332|.	E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01|.	.;SEM6A_HUMAN;.;.;.;.|.	Q|C	905;922;332;382;284;905|419	ENSP00000345512:E905Q;ENSP00000257414:E922Q;ENSP00000422997:E332Q;ENSP00000282394:E382Q;ENSP00000425364:E284Q;ENSP00000424388:E905Q|.	ENSP00000257414:E922Q|.	E|W	-|-	1|3	0|0	SEMA6A|SEMA6A	115810588|115810588	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.881000|0.881000	0.50899|0.50899	7.443000|7.443000	0.80521|0.80521	2.436000|2.436000	0.82500|0.82500	0.563000|0.563000	0.77884|0.77884	GAA|TGG		0.602	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		G	115782689	C	G	115782689	3	3	23	1	0	0	0	0	1	0	0	0	14045	864	30	4	383	4	SEMA6A	5	115782689	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	29117020	115782689	65132571	22	1598											
DMXL1	1657	hgsc.bcm.edu	37	5	118480323	118480323	+	Silent	SNP	A	A	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr5:118480323A>G	ENST00000311085.8	+	15	2639	c.2559A>G	c.(2557-2559)ttA>ttG	p.L853L	DMXL1_ENST00000539542.1_Silent_p.L853L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	853										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACAGCATTTTATCTAATGCAG	0.323																																																0													87	96	93					5																	118480323		2201	4295	6496	SO:0001819	synonymous_variant	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2559A>G	chr5.hg19:g.118480323A>G				Silent	SNP	ENST00000311085.8	hg19	CCDS4125.1																																																																																				0.323	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		G	118480323	A	G	118480323	2	3	23	1	0	0	0	0	0	0	0	1	4596	446	16	3		3	DMXL1	5	118480323	Silent	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10	2697634	118480323	62434937	23	1599											
ANKHD1	54882	hgsc.bcm.edu	37	5	139919000	139919001	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr5:139919000_139919001insT	ENST00000360839.2	+	34	7780_7781	c.7626_7627insT	c.(7627-7629)taafs	p.*2543fs	ANKHD1_ENST00000297183.6_Intron|ANKHD1-EIF4EBP3_ENST00000532219.1_Intron|ANKHD1_ENST00000544120.1_Frame_Shift_Ins_p.*867fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	0						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATATGTCAACTAAGTTAGAAG	0.371																																																0																																										SO:0001589	frameshift_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7627dupT	chr5.hg19:g.139919001_139919001dupT	ENSP00000354085:p.*2543fs		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Ins	INS	ENST00000360839.2	hg19	CCDS4225.1																																																																																				0.371	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		T	139919001	-	T	139919000	7	5	23	1	0	1	1	0	0	0	0	0	628	564	20	0	7866	0	ANKHD1	5	139919000	Frame_Shift_Ins	INS	-	TCGA-2Z-A9JT-01A-11D-A42J-10	21438677	139919000	40996260	24	1600											
PDE6A	5145	hgsc.bcm.edu	37	5	149279060	149279060	+	Missense_Mutation	SNP	T	T	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr5:149279060T>G	ENST00000255266.5	-	9	1260	c.1141A>C	c.(1141-1143)Atg>Ctg	p.M381L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	381	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TTTTTAATCATCCATCCAGAC	0.418																																																0													207	203	205					5																	149279060		2203	4300	6503	SO:0001583	missense	5145				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1141A>C	chr5.hg19:g.149279060T>G	ENSP00000255266:p.Met381Leu		Q0P638	Missense_Mutation	SNP	ENST00000255266.5	hg19	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.180514	0.38511	.	.	ENSG00000132915	ENST00000255266	T	0.66280	-0.2	5.49	3.1	0.35709	GAF (2);	0.390516	0.31041	N	0.008361	T	0.35364	0.0929	N	0.08118	0	0.38599	D	0.950611	B	0.02656	0.0	B	0.06405	0.002	T	0.10154	-1.0642	10	0.12430	T	0.62	.	8.5252	0.33300	0.0:0.1603:0.0:0.8397	.	381	P16499	PDE6A_HUMAN	L	381	ENSP00000255266:M381L	ENSP00000255266:M381L	M	-	1	0	PDE6A	149259253	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.207000	0.32333	0.472000	0.27344	0.533000	0.62120	ATG		0.418	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			G	149279060	T	G	149279060	3	3	23	1	0	0	0	0	1	0	0	0	11647	1435	50	5	1497	5	PDE6A	5	149279060	Missense_Mutation	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	9360060	149279060	31636200	25	1601											
RREB1	6239	hgsc.bcm.edu	37	6	7189549	7189549	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr6:7189549T>C	ENST00000349384.6	+	6	733	c.419T>C	c.(418-420)aTg>aCg	p.M140T	RREB1_ENST00000379933.3_Missense_Mutation_p.M140T|RREB1_ENST00000334984.6_Missense_Mutation_p.M140T|RREB1_ENST00000379938.2_Missense_Mutation_p.M140T|Y_RNA_ENST00000364613.1_RNA	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	140					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AATGGGAACATGCACAGGTGG	0.592																																																0													62	49	53					6																	7189549		2203	4299	6502	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.419T>C	chr6.hg19:g.7189549T>C	ENSP00000305560:p.Met140Thr		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	hg19	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508313	0.85282	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.19805	0.0476	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.987;0.99;1.0	D;D;D	0.83275	0.961;0.962;0.996	T	0.00664	-1.1620	10	0.87932	D	0	-58.6326	15.8788	0.79185	0.0:0.0:0.0:1.0	.	140;140;140	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	T	140	ENSP00000369265:M140T;ENSP00000369270:M140T;ENSP00000420299:M140T;ENSP00000305560:M140T;ENSP00000335574:M140T;ENSP00000419511:M140T	ENSP00000335574:M140T	M	+	2	0	RREB1	7134548	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.449000	0.80643	2.155000	0.67459	0.482000	0.46254	ATG		0.592	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			C	7189549	T	C	7189549	3	2	23	1	0	0	0	0	1	0	0	0	13685	1464	51	3	429	3	RREB1	6	7189549	Missense_Mutation	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10		7189549	163925518	26	1602											
ZBTB22	9278	hgsc.bcm.edu	37	6	33283498	33283498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr6:33283498G>T	ENST00000431845.2	-	2	1347	c.1196C>A	c.(1195-1197)tCa>tAa	p.S399*	TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Nonsense_Mutation_p.S399*|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGGCCCCCCTGAGTCATCAAG	0.617																																																0													125	137	133					6																	33283498		2203	4300	6503	SO:0001587	stop_gained	9278			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1196C>A	chr6.hg19:g.33283498G>T	ENSP00000407545:p.Ser399*		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Nonsense_Mutation	SNP	ENST00000431845.2	hg19	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089417	0.94149	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	.	.	.	4.09	4.09	0.47781	.	0.318682	0.17604	N	0.168311	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8509	0.63496	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000404403:S399X	S	-	2	0	ZBTB22	33391476	0.736000	0.28164	0.670000	0.29842	0.909000	0.53808	2.389000	0.44407	2.107000	0.64212	0.448000	0.29417	TCA		0.617	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			T	33283498	G	T	33283498	4	4	23	1	0	0	0	0	0	1	0	0	17535	1294	45	4	712	4	ZBTB22	6	33283498	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	26093949	33283498	137831569	27	1603											
KIFC1	3833	hgsc.bcm.edu	37	6	33371727	33371727	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr6:33371727G>T	ENST00000428849.2	+	6	1027	c.577G>T	c.(577-579)Gcc>Tcc	p.A193S		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	193					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						GGGGCATTTAGCCAAGGTACA	0.607																																																0													115	115	115					6																	33371727		2203	4300	6503	SO:0001583	missense	3833			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.577G>T	chr6.hg19:g.33371727G>T	ENSP00000393963:p.Ala193Ser		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	hg19	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	0.208	-1.038804	0.02013	.	.	ENSG00000237649	ENST00000428849	T	0.77750	-1.12	5.17	-0.976	0.10286	.	0.591918	0.18780	N	0.131354	T	0.39306	0.1073	L	0.44542	1.39	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.08055	0.003;0.003	T	0.29305	-1.0016	10	0.12103	T	0.63	-18.0933	5.2986	0.15766	0.4038:0.0:0.4622:0.134	.	185;193	B4E063;Q9BW19	.;KIFC1_HUMAN	S	193	ENSP00000393963:A193S	ENSP00000393963:A193S	A	+	1	0	KIFC1	33479705	0.142000	0.22610	0.355000	0.25773	0.014000	0.08584	0.418000	0.21230	0.085000	0.17107	-0.251000	0.11542	GCC		0.607	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		T	33371727	G	T	33371727	3	4	23	1	0	0	0	0	1	0	0	0	8314	971	34	4	599	4	KIFC1	6	33371727	Missense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	88229	33371727	137743340	28	1604											
UTRN	7402	hgsc.bcm.edu	37	6	144843189	144843189	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr6:144843189A>G	ENST00000367545.3	+	39	5615	c.5615A>G	c.(5614-5616)tAt>tGt	p.Y1872C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1872					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCTACAGATTATCTGGTTGAA	0.333																																																0													132	139	136					6																	144843189		2203	4300	6503	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5615A>G	chr6.hg19:g.144843189A>G	ENSP00000356515:p.Tyr1872Cys		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	hg19	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124519	0.77436	.	.	ENSG00000152818	ENST00000367545	T	0.68765	-0.35	5.7	5.7	0.88788	.	0.000000	0.49305	D	0.000155	T	0.77458	0.4133	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.81169	-0.1055	10	0.87932	D	0	.	15.9596	0.79918	1.0:0.0:0.0:0.0	.	1872	P46939	UTRO_HUMAN	C	1872	ENSP00000356515:Y1872C	ENSP00000356515:Y1872C	Y	+	2	0	UTRN	144884882	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.698000	0.91311	2.177000	0.69029	0.459000	0.35465	TAT		0.333	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			G	144843189	A	G	144843189	3	3	23	1	0	0	0	0	1	0	0	0	17108	449	16	3	5769	3	UTRN	6	144843189	Missense_Mutation	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10	111471462	144843189	26271878	29	1605											
C7orf27	221927	hgsc.bcm.edu	37	7	2581812	2581812	+	Silent	SNP	G	G	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr7:2581812G>C	ENST00000340611.4	-	7	1213	c.957C>G	c.(955-957)gtC>gtG	p.V319V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	319					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCTGGAGAAGGACCTGGAAGG	0.642																																																0													31	27	28					7																	2581812		2171	4273	6444	SO:0001819	synonymous_variant	221927			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.957C>G	chr7.hg19:g.2581812G>C			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	hg19	CCDS5334.1																																																																																				0.642	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		C	2581812	G	C	2581812	2	2	23	1	0	0	0	0	0	0	0	1	2384	1161	41	4		4	C7orf27	7	2581812	Silent	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10		2581812	156556851	30	1606											
C7orf36	57002	hgsc.bcm.edu	37	7	39610143	39610143	+	Silent	SNP	T	T	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr7:39610143T>C	ENST00000223273.2	+	2	211	c.168T>C	c.(166-168)gtT>gtC	p.V56V	YAE1D1_ENST00000448268.1_Silent_p.V56V|YAE1D1_ENST00000469737.1_3'UTR|YAE1D1_ENST00000432096.2_Silent_p.V56V	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	56																	GCAAAGCAGTTACTCTTCAAC	0.363																																																0													133	136	135					7																	39610143		2203	4300	6503	SO:0001819	synonymous_variant	57002			AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 36"	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.168T>C	chr7.hg19:g.39610143T>C			A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Silent	SNP	ENST00000223273.2	hg19	CCDS5459.1																																																																																				0.363	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		C	39610143	T	C	39610143	2	2	23	1	0	0	0	0	0	0	0	1	2392	1741	61	3		3	C7orf36	7	39610143	Silent	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	37028331	39610143	119528520	31	1607											
MBLAC1	255374	hgsc.bcm.edu	37	7	99725518	99725518	+	Missense_Mutation	SNP	C	C	G	rs35757966		TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr7:99725518C>G	ENST00000398075.2	+	2	899	c.500C>G	c.(499-501)cCg>cGg	p.P167R	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	167							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						TGGGCCACGCCGGGCCACGGG	0.741																																																0													20	22	21					7																	99725518		1902	4006	5908	SO:0001583	missense	255374			BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.500C>G	chr7.hg19:g.99725518C>G	ENSP00000381150:p.Pro167Arg		Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	hg19	CCDS43620.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055427	0.93793	.	.	ENSG00000214309	ENST00000398075	T	0.42513	0.97	4.68	4.68	0.58851	Beta-lactamase-like (2);	0.000000	0.56097	U	0.000031	T	0.67050	0.2852	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72865	-0.4163	10	0.87932	D	0	.	15.1263	0.72486	0.0:1.0:0.0:0.0	.	167	A4D2B0	MBLC1_HUMAN	R	167	ENSP00000381150:P167R	ENSP00000381150:P167R	P	+	2	0	MBLAC1	99563454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.800000	0.75165	2.440000	0.82611	0.561000	0.74099	CCG		0.741	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		G	99725518	C	G	99725518	3	3	23	1	0	0	0	0	1	0	0	0	9353	652	23	4	502	4	MBLAC1	7	99725518	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	60115375	99725518	59413145	32	1608											
REPIN1	29803	hgsc.bcm.edu	37	7	150068585	150068585	+	Silent	SNP	G	G	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr7:150068585G>A	ENST00000425389.2	+	1	333	c.255G>A	c.(253-255)ttG>ttA	p.L85L	REPIN1_ENST00000540729.1_Silent_p.L85L|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000518514.1_Missense_Mutation_p.A134T|REPIN1_ENST00000444957.1_Silent_p.L85L|REPIN1_ENST00000489432.2_Silent_p.L142L|REPIN1_ENST00000482680.1_3'UTR|REPIN1_ENST00000518462.1_3'UTR|REPIN1_ENST00000397281.2_Silent_p.L85L	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	85					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGCTGCCCTTGCCCTGCCCTG	0.692																																																0													16	19	18					7																	150068585		2106	4220	6326	SO:0001819	synonymous_variant	29803			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.255G>A	chr7.hg19:g.150068585G>A			C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	hg19	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	9.998	1.232626	0.22626	.	.	ENSG00000214022	ENST00000518514	.	.	.	5.54	2.6	0.31112	.	.	.	.	.	T	0.58892	0.2154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59112	-0.7515	5	0.87932	D	0	-3.1465	3.7036	0.08391	0.2659:0.0:0.5615:0.1726	.	.	.	.	T	134	.	ENSP00000428129:A134T	A	+	1	0	REPIN1	149699518	0.000000	0.05858	0.992000	0.48379	0.829000	0.46940	-0.141000	0.10327	0.702000	0.31825	0.462000	0.41574	GCC		0.692	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		A	150068585	G	A	150068585	2	1	23	1	0	0	0	0	0	0	0	1	13233	1310	46	2		2	REPIN1	7	150068585	Silent	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	50343067	150068585	9070078	33	1609											
INTS9	55756	hgsc.bcm.edu	37	8	28669861	28669861	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr8:28669861G>A	ENST00000521022.1	-	8	808	c.727C>T	c.(727-729)Ctt>Ttt	p.L243F	INTS9_ENST00000521777.1_Missense_Mutation_p.L219F|INTS9_ENST00000397363.4_Missense_Mutation_p.L137F|INTS9_ENST00000416984.2_Missense_Mutation_p.L222F	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	243					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TGTGTGGTAAGCAAGGAGGAT	0.463																																																0													114	105	108					8																	28669861		2203	4300	6503	SO:0001583	missense	55756			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.727C>T	chr8.hg19:g.28669861G>A	ENSP00000429065:p.Leu243Phe		B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	hg19	CCDS34873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.83|18.83	3.707284|3.707284	0.68615|0.68615	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000524081|ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363	.|T;T;T;T	.|0.47869	.|0.83;0.84;0.83;0.83	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41673|0.41673	0.1169|0.1169	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.28801	.|0.125;0.045;0.223	.|B;B;B	.|0.28553	.|0.091;0.049;0.059	T|T	0.22556|0.22556	-1.0213|-1.0213	5|10	.|0.12766	.|T	.|0.61	-18.4337|-18.4337	19.7483|19.7483	0.96259|0.96259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|222;243;243	.|B7Z6M5;G3XAN1;Q9NV88	.|.;.;INT9_HUMAN	V|F	205|243;222;87;219;137	.|ENSP00000429065:L243F;ENSP00000398208:L222F;ENSP00000430943:L219F;ENSP00000380520:L137F	.|ENSP00000380520:L137F	A|L	-|-	2|1	0|0	INTS9|INTS9	28725780|28725780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.701000|9.701000	0.98710|0.98710	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.463	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		A	28669861	G	A	28669861	3	1	23	1	0	0	0	0	1	0	0	0	7787	971	34	2	1289	2	INTS9	8	28669861	Missense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10		28669861	117694161	34	1610											
KIAA0146	23514	hgsc.bcm.edu	37	8	48352889	48352889	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr8:48352889delA	ENST00000297423.4	+	8	1266	c.882delA	c.(880-882)agafs	p.R294fs	SPIDR_ENST00000518074.1_Frame_Shift_Del_p.R234fs|SPIDR_ENST00000541342.1_Frame_Shift_Del_p.R224fs|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	294	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TTCTAGGTAGAAAATCTGGTG	0.393																																																0													67	62	64					8																	48352889		1849	4119	5968	SO:0001589	frameshift_variant	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.882delA	chr8.hg19:g.48352889delA	ENSP00000297423:p.Arg294fs		B4DFV2|B4E0Y6|Q96BI5	Frame_Shift_Del	DEL	ENST00000297423.4	hg19	CCDS43737.1																																																																																				0.393	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		-	48352889	A	-	48352889	7	5	23	1	0	1	0	1	0	0	0	0	8159	243	9	0	912	0	KIAA0146	8	48352889	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JT-01A-11D-A42J-10	19683028	48352889	98011133	35	1611											
VCPIP1	80124	hgsc.bcm.edu	37	8	67546979	67546979	+	Silent	SNP	T	T	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr8:67546979T>C	ENST00000310421.4	-	3	3684	c.3426A>G	c.(3424-3426)gaA>gaG	p.E1142E		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1142					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AACTCACAACTTCTGTTTTCC	0.423																																					NSCLC(179;265 2915 6144 43644)											0													97	96	96					8																	67546979		2203	4300	6503	SO:0001819	synonymous_variant	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3426A>G	chr8.hg19:g.67546979T>C			Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	hg19	CCDS6192.1																																																																																				0.423	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			C	67546979	T	C	67546979	2	2	23	1	0	0	0	0	0	0	0	1	17146	1606	56	3		3	VCPIP1	8	67546979	Silent	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	19194090	67546979	78817043	36	1612											
ATP6V1C1	528	hgsc.bcm.edu	37	8	104068108	104068109	+	Frame_Shift_Del	DEL	CG	CG	-	rs368547373		TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr8:104068108_104068109delCG	ENST00000395862.3	+	8	744_745	c.585_586delCG	c.(583-588)aacgacfs	p.ND195fs	ATP6V1C1_ENST00000521514.1_Frame_Shift_Del_p.ND120fs|ATP6V1C1_ENST00000518738.1_Frame_Shift_Del_p.ND195fs|ATP6V1C1_ENST00000518857.1_Frame_Shift_Del_p.ND120fs	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	195					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)	p.D196N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TAAACCACAACGACTGGATTAA	0.361																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	528			X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"ATPases / V-type"	856	protein-coding gene	gene with protein product		603097	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.585_586delCG	chr8.hg19:g.104068108_104068109delCG	ENSP00000379203:p.Asn195fs			Frame_Shift_Del	DEL	ENST00000395862.3	hg19	CCDS6296.1																																																																																				0.361	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		-	104068109	CG	-	104068108	7	5	23	1	0	1	0	1	0	0	0	0	1180	535	19	0	611	0	ATP6V1C1	8	104068108	Frame_Shift_Del	DEL	CG	TCGA-2Z-A9JT-01A-11D-A42J-10	36521129	104068108	42295914	37	1613											
KIF24	347240	hgsc.bcm.edu	37	9	34256932	34256932	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr9:34256932delG	ENST00000402558.2	-	10	2697	c.2673delC	c.(2671-2673)agcfs	p.S891fs	KIF24_ENST00000345050.2_Frame_Shift_Del_p.S757fs|KIF24_ENST00000379166.2_Frame_Shift_Del_p.S891fs|KIF24_ENST00000379174.3_Frame_Shift_Del_p.S757fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	891					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGTCCACCCAGCTTTTAGTTA	0.547																																																0													71	73	72					9																	34256932		2203	4300	6503	SO:0001589	frameshift_variant	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2673delC	chr9.hg19:g.34256932delG	ENSP00000384433:p.Ser891fs		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Del	DEL	ENST00000402558.2	hg19	CCDS6551.2																																																																																				0.547	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			-	34256932	G	-	34256932	7	5	23	1	0	1	0	1	0	0	0	0	8294	962	34	0	1445	0	KIF24	9	34256932	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JT-01A-11D-A42J-10		34256932	106956499	38	1614											
ZFAND5	7763	hgsc.bcm.edu	37	9	74975669	74975669	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr9:74975669G>T	ENST00000237937.3	-	2	583	c.26C>A	c.(25-27)cCg>cAg	p.P9Q	ZFAND5_ENST00000343431.2_Missense_Mutation_p.P9Q|ZFAND5_ENST00000376962.5_Missense_Mutation_p.P9Q|ZFAND5_ENST00000376960.4_Missense_Mutation_p.P9Q|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	9					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						CATGGGCCCCGGGGTCTGGTT	0.403																																																0													88	94	92					9																	74975669		2203	4297	6500	SO:0001583	missense	7763			AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"Zinc fingers, AN1-type domain containing"	13008	protein-coding gene	gene with protein product		604761	"zinc finger protein 216", "zinc finger, A20 domain containing 2"	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.26C>A	chr9.hg19:g.74975669G>T	ENSP00000237937:p.Pro9Gln		A8K484	Missense_Mutation	SNP	ENST00000237937.3	hg19	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	G	3.765	-0.048781	0.07407	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	5.89	5.89	0.94794	Zinc finger, A20-type (1);	.	.	.	.	T	0.18215	0.0437	N	0.00174	-1.93	0.80722	D	1	B	0.25904	0.137	B	0.26310	0.068	T	0.50874	-0.8776	8	0.02654	T	1	-5.8486	20.2561	0.98419	0.0:0.0:1.0:0.0	.	9	O76080	ZFAN5_HUMAN	Q	9;9;9;9;61	.	ENSP00000237937:P9Q	P	-	2	0	ZFAND5	74165489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.483000	0.66838	2.797000	0.96272	0.563000	0.77884	CCG		0.403	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			T	74975669	G	T	74975669	3	4	23	1	0	0	0	0	1	0	0	0	17635	1116	39	4	635	4	ZFAND5	9	74975669	Missense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	40718737	74975669	66237762	39	1615											
SVIL	6840	hgsc.bcm.edu	37	10	29760115	29760115	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr10:29760115T>C	ENST00000355867.4	-	31	6339	c.5587A>G	c.(5587-5589)Atg>Gtg	p.M1863V	PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.M1863V|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000460007.1_5'Flank|SVIL_ENST00000375400.3_Missense_Mutation_p.M1437V|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.M777V	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1863					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCACCACCATCCCCCCCTGG	0.527																																																0													77	63	68					10																	29760115		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5587A>G	chr10.hg19:g.29760115T>C	ENSP00000348128:p.Met1863Val		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	hg19	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800002	0.90538	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	M	0.73598	2.24	0.80722	D	1	P;P;D	0.55605	0.875;0.72;0.972	P;P;P	0.55222	0.771;0.692;0.616	T	0.64676	-0.6351	10	0.87932	D	0	-31.3148	16.5582	0.84512	0.0:0.0:0.0:1.0	.	777;1437;1863	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	V	1437;1863;1863;777	ENSP00000364549:M1437V;ENSP00000364547:M1863V;ENSP00000348128:M1863V;ENSP00000445472:M777V	ENSP00000348128:M1863V	M	-	1	0	SVIL	29800121	1.000000	0.71417	0.969000	0.41365	0.958000	0.62258	7.901000	0.87382	2.308000	0.77769	0.533000	0.62120	ATG		0.527	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			C	29760115	T	C	29760115	3	2	23	1	0	0	0	0	1	0	0	0	15426	1435	50	3	1089	3	SVIL	10	29760115	Missense_Mutation	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10		29760115	105774632	40	1616											
ABCC2	1244	hgsc.bcm.edu	37	10	101595920	101595920	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr10:101595920T>C	ENST00000370449.4	+	25	3600	c.3487T>C	c.(3487-3489)Ttc>Ctc	p.F1163L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1163	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTACTCTCACTTCAGCGAGAC	0.493																																																0													149	135	140					10																	101595920		2203	4300	6503	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3487T>C	chr10.hg19:g.101595920T>C	ENSP00000359478:p.Phe1163Leu		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	hg19	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	34	5.351795	0.95830	.	.	ENSG00000023839	ENST00000370449	D	0.88277	-2.36	5.78	5.78	0.91487	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94368	0.8189	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94944	0.8094	10	0.87932	D	0	-9.1981	16.1127	0.81273	0.0:0.0:0.0:1.0	.	1163	Q92887	MRP2_HUMAN	L	1163	ENSP00000359478:F1163L	ENSP00000359478:F1163L	F	+	1	0	ABCC2	101585910	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.037000	0.88933	2.212000	0.71576	0.260000	0.18958	TTC		0.493	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		C	101595920	T	C	101595920	3	2	23	1	0	0	0	0	1	0	0	0	53	1609	56	3	3585	3	ABCC2	10	101595920	Missense_Mutation	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	71835805	101595920	33938827	41	1617											
POLL	27343	hgsc.bcm.edu	37	10	103343263	103343263	+	Splice_Site	SNP	A	A	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr10:103343263A>C	ENST00000370162.3	-	6	1560		c.e6+1		POLL_ENST00000463515.1_5'Flank|POLL_ENST00000436284.2_3'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Splice_Site|POLL_ENST00000370158.3_Splice_Site|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Splice_Site|POLL_ENST00000456836.2_Splice_Site|POLL_ENST00000339310.3_Splice_Site|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370172.1_Splice_Site	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda						DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCAGGGTGTGACCTGTTGGTA	0.567								DNA polymerases (catalytic subunits)																																								0													102	85	90					10																	103343263		2203	4300	6503	SO:0001630	splice_region_variant	27343			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1065+1T>G	chr10.hg19:g.103343263A>C			D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Splice_Site	SNP	ENST00000370162.3	hg19	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158773	0.78226	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLL	103333253	1.000000	0.71417	0.994000	0.49952	0.842000	0.47809	8.908000	0.92640	2.231000	0.72958	0.460000	0.39030	.		0.567	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274	Intron	C	103343263	A	C	103343263	5	2	23	1	0	0	0	0	0	0	1	0	12207	289	10	5	676	5	POLL	10	103343263	Splice_Site	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10	1747343	103343263	32191484	42	1618											
PAMR1	25891	hgsc.bcm.edu	37	11	35456322	35456326	+	Frame_Shift_Del	DEL	GGAGC	GGAGC	-	rs559149381		TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	GGAGC	GGAGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr11:35456322_35456326delGGAGC	ENST00000378880.2	-	10	1805_1809	c.1360_1364delGCTCC	c.(1360-1365)gctccafs	p.AP454fs	PAMR1_ENST00000278360.3_Frame_Shift_Del_p.AP471fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.AP414fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.AP343fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	454	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTGGGTCTTTGGAGCAGTGATGTTC	0.527																																																0																																										SO:0001589	frameshift_variant	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1360_1364delGCTCC	chr11.hg19:g.35456322_35456326delGGAGC	ENSP00000368158:p.Ala454fs		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	ENST00000378880.2	hg19	CCDS31460.1																																																																																				0.527	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		-	35456326	GGAGC	-	35456322	7	5	23	1	0	1	0	1	0	0	0	0	11415	1348	47	0	806	0	PAMR1	11	35456322	Frame_Shift_Del	DEL	GGAGC	TCGA-2Z-A9JT-01A-11D-A42J-10		35456322	99550194	43	1619											
EXT2	2132	hgsc.bcm.edu	37	11	44129501	44129501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr11:44129501delG	ENST00000343631.3	+	2	368	c.239delG	c.(238-240)cggfs	p.R80fs	EXT2_ENST00000395673.3_Frame_Shift_Del_p.R113fs|EXT2_ENST00000533608.1_Frame_Shift_Del_p.R80fs|EXT2_ENST00000358681.4_Frame_Shift_Del_p.R80fs			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	80					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATCCCAGAGCGGGGGGATCTC	0.498			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0													80	72	75					11																	44129501		2203	4300	6503	SO:0001589	frameshift_variant	2132	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.239delG	chr11.hg19:g.44129501delG	ENSP00000342656:p.Arg80fs		B2R5Z6|C9JU51|J3KPT2|O15288	Frame_Shift_Del	DEL	ENST00000343631.3	hg19	CCDS7908.1																																																																																				0.498	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		-	44129501	G	-	44129501	7	5	23	1	0	1	0	1	0	0	0	0	5326	1116	39	0	344	0	EXT2	11	44129501	Frame_Shift_Del	DEL	G	TCGA-2Z-A9JT-01A-11D-A42J-10	8673179	44129501	90877015	44	1620											
SAPS3	55291	hgsc.bcm.edu	37	11	68305152	68305152	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr11:68305152T>C	ENST00000393800.2	+	3	274	c.20T>C	c.(19-21)cTt>cCt	p.L7P	PPP6R3_ENST00000393801.3_Missense_Mutation_p.L7P|PPP6R3_ENST00000524904.1_Missense_Mutation_p.L7P|PPP6R3_ENST00000265637.4_Missense_Mutation_p.L7P|PPP6R3_ENST00000524845.1_Missense_Mutation_p.L7P|PPP6R3_ENST00000393799.2_Missense_Mutation_p.L7P|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265636.5_Missense_Mutation_p.L7P|PPP6R3_ENST00000529710.1_Missense_Mutation_p.L7P|PPP6R3_ENST00000527403.2_Missense_Mutation_p.L7P	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	7					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AAATTTGATCTTCACTCATCA	0.318																																																0													86	77	80					11																	68305152		2200	4294	6494	SO:0001583	missense	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.20T>C	chr11.hg19:g.68305152T>C	ENSP00000377389:p.Leu7Pro		Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	hg19	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301170	0.81136	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000528635;ENST00000533127;ENST00000529344;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	M	0.90814	3.15	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.993;0.987;0.997;0.984;1.0;0.997	T	0.82232	-0.0559	9	.	.	.	.	14.3003	0.66341	0.0:0.0:0.0:1.0	.	7;7;7;7;7;7	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	P	7	ENSP00000377388:L7P;ENSP00000377389:L7P;ENSP00000433768:L7P;ENSP00000433551:L7P;ENSP00000431415:L7P;ENSP00000265637:L7P;ENSP00000433058:L7P;ENSP00000377390:L7P;ENSP00000265636:L7P;ENSP00000437329:L7P;ENSP00000433565:L7P;ENSP00000432837:L7P	.	L	+	2	0	PPP6R3	68061728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.774000	0.85478	1.973000	0.57446	0.455000	0.32223	CTT		0.318	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		C	68305152	T	C	68305152	3	2	23	1	0	0	0	0	1	0	0	0	13844	1609	56	3	22	3	SAPS3	11	68305152	Missense_Mutation	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	24175651	68305152	66701364	45	1621											
DDX25	29118	hgsc.bcm.edu	37	11	125787115	125787115	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr11:125787115T>A	ENST00000263576.6	+	9	1162	c.1007T>A	c.(1006-1008)aTc>aAc	p.I336N	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	336	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TATGGCAGCATCACCATTGGT	0.502																																																0													38	37	38					11																	125787115		2128	4248	6376	SO:0001583	missense	29118			AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1007T>A	chr11.hg19:g.125787115T>A	ENSP00000263576:p.Ile336Asn		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	hg19	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618207	0.46736	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T	0.04917	3.53	5.89	5.89	0.94794	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	L	0.28694	0.88	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.58928	0.848;0.848	T	0.01030	-1.1475	10	0.87932	D	0	-23.2211	15.9893	0.80188	0.0:0.0:0.0:1.0	.	336;336	B4DHI6;Q9UHL0	.;DDX25_HUMAN	N	222;336;202	ENSP00000263576:I336N	ENSP00000263576:I336N	I	+	2	0	DDX25	125292325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.621000	0.83083	2.254000	0.74563	0.533000	0.62120	ATC		0.502	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		A	125787115	T	A	125787115	3	1	23	1	0	0	0	0	1	0	0	0	4354	1435	50	5	1041	5	DDX25	11	125787115	Missense_Mutation	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	57481963	125787115	9219401	46	1622											
SLC6A13	6540	hgsc.bcm.edu	37	12	369149	369149	+	Missense_Mutation	SNP	T	T	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr12:369149T>C	ENST00000343164.4	-	2	122	c.70A>G	c.(70-72)Aag>Gag	p.K24E	SLC6A13_ENST00000445055.2_Missense_Mutation_p.K24E|RP11-283I3.4_ENST00000540868.1_RNA|SLC6A13_ENST00000436453.1_Missense_Mutation_p.K24E	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	24				Missing (in Ref. 1; AAF64247). {ECO:0000305}.	neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCTTCCTCCTTCTTTTCCATG	0.522																																																0													237	218	224					12																	369149		2203	4300	6503	SO:0001583	missense	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.70A>G	chr12.hg19:g.369149T>C	ENSP00000339260:p.Lys24Glu		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	hg19	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.687081	0.00738	.	.	ENSG00000010379	ENST00000445055;ENST00000343164;ENST00000546319;ENST00000436453	T;T;T;T	0.73363	-0.7;-0.74;0.13;0.46	5.94	1.65	0.23941	.	1.192160	0.05617	N	0.579148	T	0.49423	0.1556	N	0.03608	-0.345	0.19775	N	0.999955	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.30060	-0.9991	10	0.05351	T	0.99	.	10.5688	0.45188	0.0:0.6942:0.0:0.3058	.	24;24;24	B4DJL1;Q8WW56;Q9NSD5	.;.;S6A13_HUMAN	E	24	ENSP00000407104:K24E;ENSP00000339260:K24E;ENSP00000444606:K24E;ENSP00000389316:K24E	ENSP00000339260:K24E	K	-	1	0	SLC6A13	239410	0.712000	0.27916	0.864000	0.33941	0.053000	0.15095	0.179000	0.16840	-0.052000	0.13311	-2.020000	0.00432	AAG		0.522	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		C	369149	T	C	369149	3	2	23	1	0	0	0	0	1	0	0	0	14682	1792	62	3	1794	3	SLC6A13	12	369149	Missense_Mutation	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10		369149	133482746	47	1623											
LTBR	4055	hgsc.bcm.edu	37	12	6494235	6494235	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr12:6494235G>A	ENST00000228918.4	+	3	567	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000543190.1_5'UTR|LTBR_ENST00000539925.1_Missense_Mutation_p.A62T|LTBR_ENST00000541102.1_5'Flank	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	81					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CACAGTTTGTGCCACATGTGC	0.587																																																0													139	128	132					12																	6494235		2203	4300	6503	SO:0001583	missense	4055			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.241G>A	chr12.hg19:g.6494235G>A	ENSP00000228918:p.Ala81Thr		B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	hg19	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624615	0.28889	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000536876	T;T;T	0.69685	-0.42;-0.42;-0.42	4.64	-3.91	0.04168	.	0.671765	0.13866	N	0.357310	T	0.44371	0.1290	L	0.37561	1.115	0.20926	N	0.99983	B;B;B	0.24721	0.11;0.027;0.024	B;B;B	0.17433	0.018;0.006;0.005	T	0.25152	-1.0140	10	0.19147	T	0.46	0.0217	4.8169	0.13371	0.4152:0.0:0.3823:0.2026	.	62;62;81	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	T	62;81;76	ENSP00000440875:A62T;ENSP00000228918:A81T;ENSP00000437647:A76T	ENSP00000228918:A81T	A	+	1	0	LTBR	6364496	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.019000	0.03622	-0.623000	0.05618	-0.367000	0.07326	GCC		0.587	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			A	6494235	G	A	6494235	3	1	23	1	0	0	0	0	1	0	0	0	9079	1319	46	2	251	2	LTBR	12	6494235	Missense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	6125086	6494235	127357660	48	1624											
PEX5	5830	hgsc.bcm.edu	37	12	7351609	7351609	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr12:7351609C>A	ENST00000455147.2	+	7	1031	c.451C>A	c.(451-453)Ccc>Acc	p.P151T	PEX5_ENST00000266563.5_Missense_Mutation_p.P151T|PEX5_ENST00000420616.2_Missense_Mutation_p.P151T|PEX5_ENST00000266564.3_Missense_Mutation_p.P151T|PEX5_ENST00000412720.2_Missense_Mutation_p.P172T|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000434354.2_Missense_Mutation_p.P166T	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	151					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CCTTGCAGACCCCTTGTCTGT	0.542																																																0													67	60	62					12																	7351609		2203	4300	6503	SO:0001583	missense	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.451C>A	chr12.hg19:g.7351609C>A	ENSP00000400647:p.Pro151Thr		A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	hg19	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504553	0.44558	.	.	ENSG00000139197	ENST00000536883;ENST00000542539;ENST00000455147;ENST00000266563;ENST00000543974;ENST00000434354;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564;ENST00000545845	D;D;D;D;D;D;D	0.88201	-2.3;-2.35;-2.32;-2.3;-2.32;-2.18;-2.32	5.91	4.99	0.66335	.	0.149257	0.45606	D	0.000347	D	0.85008	0.5599	L	0.33485	1.01	0.58432	D	0.999999	P;B;B;B;B	0.48407	0.91;0.073;0.205;0.307;0.138	P;B;B;B;B	0.45099	0.469;0.028;0.032;0.069;0.023	D	0.83524	0.0087	10	0.31617	T	0.26	.	14.2253	0.65855	0.0:0.9262:0.0:0.0738	.	172;166;151;151;151	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	T	68;151;151;151;68;166;139;151;172;166;151;68	ENSP00000400647:P151T;ENSP00000266563:P151T;ENSP00000407401:P166T;ENSP00000410159:P151T;ENSP00000391601:P172T;ENSP00000379877:P166T;ENSP00000266564:P151T	ENSP00000266563:P151T	P	+	1	0	PEX5	7242876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.918000	0.63376	1.434000	0.47414	0.655000	0.94253	CCC		0.542	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		A	7351609	C	A	7351609	3	1	23	1	0	0	0	0	1	0	0	0	11750	623	22	4	514	4	PEX5	12	7351609	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	857374	7351609	126500286	49	1625											
SUOX	6821	hgsc.bcm.edu	37	12	56397604	56397604	+	Missense_Mutation	SNP	A	A	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr12:56397604A>T	ENST00000394109.3	+	3	1155	c.431A>T	c.(430-432)aAc>aTc	p.N144I	SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000548274.1_Missense_Mutation_p.N144I|SUOX_ENST00000394115.2_Missense_Mutation_p.N144I|SUOX_ENST00000266971.3_Missense_Mutation_p.N144I|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000356124.4_Missense_Mutation_p.N144I			P51687	SUOX_HUMAN	sulfite oxidase	144	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GCTGTTCACAACCAGTCCCAT	0.557																																																0													99	97	97					12																	56397604		2203	4300	6503	SO:0001583	missense	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.431A>T	chr12.hg19:g.56397604A>T	ENSP00000377668:p.Asn144Ile			Missense_Mutation	SNP	ENST00000394109.3	hg19	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932930	0.52866	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000546833;ENST00000394109	T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	4.46	2.08	0.27032	Cytochrome b5 (4);	0.103271	0.64402	D	0.000005	T	0.79924	0.4530	M	0.68317	2.08	0.45403	D	0.99838	B	0.32526	0.374	B	0.42593	0.392	T	0.74228	-0.3733	10	0.40728	T	0.16	-6.0079	8.0486	0.30564	0.8148:0.0:0.1852:0.0	.	144	P51687	SUOX_HUMAN	I	144	ENSP00000348440:N144I;ENSP00000266971:N144I;ENSP00000377674:N144I;ENSP00000450245:N144I;ENSP00000449872:N144I;ENSP00000377668:N144I	ENSP00000266971:N144I	N	+	2	0	SUOX	54683871	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.061000	0.49963	0.463000	0.27118	0.533000	0.62120	AAC		0.557	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		T	56397604	A	T	56397604	3	4	23	1	0	0	0	0	1	0	0	0	15400	43	2	5	441	5	SUOX	12	56397604	Missense_Mutation	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10	49045995	56397604	77454291	50	1626											
RAB21	23011	hgsc.bcm.edu	37	12	72167772	72167772	+	Silent	SNP	T	T	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr12:72167772T>C	ENST00000261263.3	+	4	617	c.361T>C	c.(361-363)Ttg>Ctg	p.L121L		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	121					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)	6						ACGGAAAATGTTGGGAAATGA	0.294																																																0													75	80	78					12																	72167772		2203	4294	6497	SO:0001819	synonymous_variant	23011			AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"RAB, member RAS oncogene"	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.361T>C	chr12.hg19:g.72167772T>C			Q14466|Q569H3	Silent	SNP	ENST00000261263.3	hg19	CCDS9003.1																																																																																				0.294	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404855.1			C	72167772	T	C	72167772	2	2	23	1	0	0	0	0	0	0	0	1	12914	1722	60	3		3	RAB21	12	72167772	Silent	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	15770168	72167772	61684123	51	1627											
NAP1L1	4673	hgsc.bcm.edu	37	12	76462722	76462722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr12:76462722C>A	ENST00000261182.8	-	3	556	c.70G>T	c.(70-72)Gaa>Taa	p.E24*	NAP1L1_ENST00000544816.1_Intron|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.E24*|NAP1L1_ENST00000542344.1_Intron|NAP1L1_ENST00000431879.3_5'UTR|NAP1L1_ENST00000535020.2_Nonsense_Mutation_p.E24*|NAP1L1_ENST00000549596.1_Nonsense_Mutation_p.E24*|NAP1L1_ENST00000547773.1_Intron|NAP1L1_ENST00000548044.1_5'UTR|NAP1L1_ENST00000552342.1_Nonsense_Mutation_p.E24*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	24	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GTTTCCTCTTCTTCTACTTCT	0.358																																																0													215	212	213					12																	76462722		2203	4300	6503	SO:0001587	stop_gained	4673				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.70G>T	chr12.hg19:g.76462722C>A	ENSP00000261182:p.Glu24*		B3KNT8	Nonsense_Mutation	SNP	ENST00000261182.8	hg19	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	38	6.800209	0.97849	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000535020;ENST00000549596;ENST00000552342;ENST00000550934;ENST00000551992;ENST00000551600;ENST00000547704;ENST00000547479	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.7353	0.96200	0.0:1.0:0.0:0.0	.	.	.	.	X	24;18;24;24;24;24;24;24;24;24;24	.	ENSP00000261182:E24X	E	-	1	0	NAP1L1	74748989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.979000	0.70508	2.743000	0.94032	0.655000	0.94253	GAA		0.358	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		A	76462722	C	A	76462722	4	1	23	1	0	0	0	0	0	1	0	0	10158	922	32	4	1157	4	NAP1L1	12	76462722	Nonsense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	4294950	76462722	57389173	52	1628											
MED13L	23389	hgsc.bcm.edu	37	12	116453057	116453057	+	Silent	SNP	A	A	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr12:116453057A>G	ENST00000281928.3	-	8	1238	c.1032T>C	c.(1030-1032)agT>agC	p.S344S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	344						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GACTGGCAGCACTCTGCATAC	0.428																																																0													148	132	137					12																	116453057		2203	4300	6503	SO:0001819	synonymous_variant	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1032T>C	chr12.hg19:g.116453057A>G			A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	hg19	CCDS9177.1																																																																																				0.428	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			G	116453057	A	G	116453057	2	3	23	1	0	0	0	0	0	0	0	1	9433	156	6	3		3	MED13L	12	116453057	Silent	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10	39990335	116453057	17398838	53	1629											
PXN	5829	hgsc.bcm.edu	37	12	120660781	120660781	+	Silent	SNP	T	T	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr12:120660781T>G	ENST00000228307.7	-	4	519	c.378A>C	c.(376-378)tcA>tcC	p.S126S	PXN_ENST00000267257.7_Silent_p.S126S|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Silent_p.S126S|PXN_ENST00000536957.1_Silent_p.S124S|PXN_ENST00000458477.2_5'UTR	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	126					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGGCTCAGCTGATTTCTGCT	0.532																																																0													104	106	105					12																	120660781		2035	4186	6221	SO:0001819	synonymous_variant	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.378A>C	chr12.hg19:g.120660781T>G			B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	hg19	CCDS44997.1																																																																																				0.532	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		G	120660781	T	G	120660781	2	3	23	1	0	0	0	0	0	0	0	1	12858	1567	55	5		5	PXN	12	120660781	Silent	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	4207724	120660781	13191114	54	1630											
KNTC1	9735	hgsc.bcm.edu	37	12	123075197	123075201	+	Frame_Shift_Del	DEL	ACTGC	ACTGC	-			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	ACTGC	ACTGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr12:123075197_123075201delACTGC	ENST00000333479.7	+	41	4220_4224	c.4043_4047delACTGC	c.(4042-4047)tactgcfs	p.YC1348fs	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1348					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GCGTTGGGTTACTGCACTCTCTTAC	0.385																																																0																																										SO:0001589	frameshift_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4043_4047delACTGC	chr12.hg19:g.123075197_123075201delACTGC	ENSP00000328236:p.Tyr1348fs		A7E2C4|B3KSG2	Frame_Shift_Del	DEL	ENST00000333479.7	hg19	CCDS45002.1																																																																																				0.385	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			-	123075201	ACTGC	-	123075197	7	5	23	1	0	1	0	1	0	0	0	0	8430	391	14	0	4201	0	KNTC1	12	123075197	Frame_Shift_Del	DEL	ACTGC	TCGA-2Z-A9JT-01A-11D-A42J-10	2414416	123075197	10776698	55	1631											
NALCN	259232	hgsc.bcm.edu	37	13	102047671	102047671	+	Frame_Shift_Del	DEL	A	A	-	rs188237867		TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr13:102047671delA	ENST00000251127.6	-	3	235	c.154delT	c.(154-156)tctfs	p.S52fs	NALCN_ENST00000376200.5_Frame_Shift_Del_p.S52fs|NALCN_ENST00000376196.3_Frame_Shift_Del_p.S52fs|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	52					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATACAAACAGAAATGACGCTG	0.443																																																0													143	113	123					13																	102047671		2203	4300	6503	SO:0001589	frameshift_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.154delT	chr13.hg19:g.102047671delA	ENSP00000251127:p.Ser52fs		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Frame_Shift_Del	DEL	ENST00000251127.6	hg19	CCDS9498.1																																																																																				0.443	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		-	102047671	A	-	102047671	7	5	23	1	0	1	0	1	0	0	0	0	10150	246	9	0	5230	0	NALCN	13	102047671	Frame_Shift_Del	DEL	A	TCGA-2Z-A9JT-01A-11D-A42J-10		102047671	13122207	56	1632											
LTK	4058	hgsc.bcm.edu	37	15	41804906	41804906	+	Splice_Site	SNP	G	G	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr15:41804906G>A	ENST00000263800.6	-	3	454	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	LTK_ENST00000355166.5_Splice_Site_p.L120L|LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Splice_Site_p.L120L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	120					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGCACTTACAGATACTGGCCA	0.667										TSP Lung(18;0.14)																																						0													11	12	11					15																	41804906		2183	4252	6435	SO:0001630	splice_region_variant	4058			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.359+1C>T	chr15.hg19:g.41804906G>A			A6NNJ8|B4DL89|E9PFX4	Silent	SNP	ENST00000263800.6	hg19	CCDS10077.1																																																																																				0.667	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		Silent	A	41804906	G	A	41804906	5	1	23	1	0	0	0	0	0	0	1	0	9082	956	33	2	2308	2	LTK	15	41804906	Splice_Site	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10		41804906	60726486	57	1633											
TSPAN3	10099	hgsc.bcm.edu	37	15	77346604	77346612	+	In_Frame_Del	DEL	ATCAACCTC	ATCAACCTC	-			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	ATCAACCTC	ATCAACCTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr15:77346604_77346612delATCAACCTC	ENST00000267970.4	-	4	613_621	c.340_348delGAGGTTGAT	c.(340-348)gaggttgatdel	p.EVD114del	TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000346495.2_In_Frame_Del_p.EVD89del|TSPAN3_ENST00000424443.3_In_Frame_Del_p.EVD50del|TSPAN3_ENST00000559494.1_In_Frame_Del_p.EVD25del|TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000558745.1_5'UTR	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	114						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		GAATGCTGCGATCAACCTCATTTTCCACC	0.388																																																0																																										SO:0001651	inframe_deletion	10099				CCDS10292.1, CCDS10293.1, CCDS53963.1	15q23	2013-02-14	2005-03-21	2005-03-21	ENSG00000140391	ENSG00000140391		"Tetraspanins"	17752	protein-coding gene	gene with protein product		613134	"transmembrane 4 superfamily member 8"	TM4SF8			Standard	NM_005724		Approved	TM4-A, TSPAN-3	uc002bcj.3	O60637	OTTHUMG00000143728	ENST00000267970.4:c.340_348delGAGGTTGAT	chr15.hg19:g.77346604_77346612delATCAACCTC	ENSP00000267970:p.Glu114_Asp116del		A6NEH4|B3KQQ2|B4DP19|Q9BW22|Q9NVX9	In_Frame_Del	DEL	ENST00000267970.4	hg19	CCDS10292.1																																																																																				0.388	TSPAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289792.3	NM_005724		-	77346612	ATCAACCTC	-	77346604	7	5	23	1	0	1	0	1	0	0	0	0	16650	330	12	0	429	0	TSPAN3	15	77346604	In_Frame_Del	DEL	ATCAACCTC	TCGA-2Z-A9JT-01A-11D-A42J-10	35541698	77346604	25184788	58	1634											
ZNF598	90850	hgsc.bcm.edu	37	16	2053710	2053710	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr16:2053710A>G	ENST00000563630.1	-	2	319	c.77T>C	c.(76-78)cTt>cCt	p.L26P	ZNF598_ENST00000562103.1_Missense_Mutation_p.L26P|ZNF598_ENST00000431526.1_Missense_Mutation_p.L81P			Q86UK7	ZN598_HUMAN	zinc finger protein 598	81							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AAAGGCAGGAAGCTTCTTCCC	0.537											OREG0023548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													97	103	101					16																	2053710		2078	4219	6297	SO:0001583	missense	90850			BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.77T>C	chr16.hg19:g.2053710A>G	ENSP00000455882:p.Leu26Pro	600	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	hg19		.	.	.	.	.	.	.	.	.	.	.	14.36	2.511915	0.44660	.	.	ENSG00000167962	ENST00000431526	T	0.28255	1.62	5.05	5.05	0.67936	.	0.145740	0.48767	D	0.000168	T	0.19446	0.0467	N	0.16708	0.43	0.80722	D	1	P	0.37500	0.597	B	0.34873	0.191	T	0.05750	-1.0866	10	0.30854	T	0.27	-18.4695	13.9561	0.64150	1.0:0.0:0.0:0.0	.	81	Q86UK7	ZN598_HUMAN	P	81	ENSP00000411409:L81P	ENSP00000411409:L81P	L	-	2	0	ZNF598	1993711	1.000000	0.71417	0.990000	0.47175	0.934000	0.57294	5.859000	0.69539	1.911000	0.55334	0.402000	0.26972	CTT		0.537	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		G	2053710	A	G	2053710	3	3	23	1	0	0	0	0	1	0	0	0	18033	72	3	3	2516	3	ZNF598	16	2053710	Missense_Mutation	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10		2053710	88301043	59	1635											
NAGPA	51172	hgsc.bcm.edu	37	16	5075564	5075564	+	Missense_Mutation	SNP	T	T	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr16:5075564T>A	ENST00000312251.3	-	10	1482	c.1463A>T	c.(1462-1464)tAc>tTc	p.Y488F	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.Y454F	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	488					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CAGCGGGTGGTATGCATAGTC	0.637																																																0													67	75	72					16																	5075564		2197	4300	6497	SO:0001583	missense	51172			AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.1463A>T	chr16.hg19:g.5075564T>A	ENSP00000310998:p.Tyr488Phe		B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	hg19	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311544	0.60414	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.52057	2.2;0.68	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.72894	2.215	0.38705	D	0.953078	D;D	0.76494	0.999;0.996	D;D	0.78314	0.991;0.99	T	0.72669	-0.4223	10	0.72032	D	0.01	-43.9859	12.7796	0.57469	0.0:0.0:0.0:1.0	.	488;454	Q9UK23;Q9UK23-2	NAGPA_HUMAN;.	F	488;454	ENSP00000310998:Y488F;ENSP00000371381:Y454F	ENSP00000310998:Y488F	Y	-	2	0	NAGPA	5015565	1.000000	0.71417	0.996000	0.52242	0.066000	0.16364	3.790000	0.55461	1.962000	0.57031	0.459000	0.35465	TAC		0.637	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		A	5075564	T	A	5075564	3	1	23	1	0	0	0	0	1	0	0	0	10146	1638	57	5	88	5	NAGPA	16	5075564	Missense_Mutation	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10	3021854	5075564	85279189	60	1636											
ATP2A1	487	hgsc.bcm.edu	37	16	28914368	28914368	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr16:28914368C>T	ENST00000357084.3	+	20	3029	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F	ATP2A1_ENST00000536376.1_Missense_Mutation_p.S796F|ATP2A1_ENST00000395503.4_Missense_Mutation_p.S921F	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	921					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GAGAACCAGTCCCTGCTGCGG	0.632																																																0													101	82	89					16																	28914368		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2762C>T	chr16.hg19:g.28914368C>T	ENSP00000349595:p.Ser921Phe		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	hg19	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542099	0.85917	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.90261	-2.64;-2.64;-2.52	4.74	4.74	0.60224	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97117	0.9058	H	0.97291	3.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	D	0.98541	1.0632	10	0.87932	D	0	.	16.6475	0.85180	0.0:1.0:0.0:0.0	.	796;921;921	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	F	921;921;796	ENSP00000349595:S921F;ENSP00000378879:S921F;ENSP00000443101:S796F	ENSP00000349595:S921F	S	+	2	0	ATP2A1	28821869	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.608000	0.82898	2.456000	0.83038	0.561000	0.74099	TCC		0.632	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		T	28914368	C	T	28914368	3	4	23	1	0	0	0	0	1	0	0	0	1136	855	30	2	2840	2	ATP2A1	16	28914368	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	23838804	28914368	61440385	61	1637											
OR1E2	8388	hgsc.bcm.edu	37	17	3336754	3336754	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr17:3336754A>G	ENST00000248384.1	-	1	381	c.382T>C	c.(382-384)Ttc>Ctc	p.F128L		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	128					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						TGCATGGGGAAGCAGATGGCC	0.557																																																0													98	80	86					17																	3336754		2203	4300	6503	SO:0001583	missense	8388			U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"GPCR / Class A : Olfactory receptors"	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.382T>C	chr17.hg19:g.3336754A>G	ENSP00000248384:p.Phe128Leu		O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	hg19	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	-	13.49	2.253554	0.39797	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.00388	7.59	5.47	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.300607	0.29355	N	0.012388	T	0.00144	0.0004	N	0.05050	-0.12	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.44832	-0.9302	10	0.72032	D	0.01	.	3.5344	0.07789	0.473:0.0:0.354:0.1731	.	128	P47887	OR1E2_HUMAN	L	128;127	ENSP00000248384:F128L	ENSP00000248384:F128L	F	-	1	0	OR1E2	3283504	0.000000	0.05858	0.884000	0.34674	0.914000	0.54420	-1.011000	0.03652	0.517000	0.28361	0.528000	0.53228	TTC		0.557	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			G	3336754	A	G	3336754	3	3	23	1	0	0	0	0	1	0	0	0	10957	72	3	3	592	3	OR1E2	17	3336754	Missense_Mutation	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10		3336754	77858456	62	1638											
CTNS	1497	hgsc.bcm.edu	37	17	3563642	3563642	+	Silent	SNP	G	G	A	rs371189196	byFrequency	TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr17:3563642G>A	ENST00000046640.3	+	12	1676	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000381870.3_Silent_p.P361P|CTNS_ENST00000441220.2_Silent_p.P253P|CTNS_ENST00000414524.2_Silent_p.P214P	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	361					adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)	p.P361P(2)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GAAAGAGACCGGGGTATGACC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		18448	0.0		0.001	False		,,,				2504	0.001															2	Substitution - coding silent(2)	endometrium(2)											92	95	94					17																	3563642		2203	4300	6503	SO:0001819	synonymous_variant	1497			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.1083G>A	chr17.hg19:g.3563642G>A			D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	hg19	CCDS11031.1																																																																																				0.582	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		A	3563642	G	A	3563642	2	1	23	1	0	0	0	0	0	0	0	1	4023	1103	39	1		1	CTNS	17	3563642	Silent	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	226888	3563642	77631568	63	1639											
KCTD11	147040	hgsc.bcm.edu	37	17	7256855	7256855	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr17:7256855G>T	ENST00000333751.3	+	1	1648	c.594G>T	c.(592-594)gaG>gaT	p.E198D	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000389982.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	198					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GCTTCCTGGAGGAGGTGCTGC	0.667																																																0													18	21	20					17																	7256855		2175	4269	6444	SO:0001583	missense	147040			AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"chromosome 17 open reading frame 36", "potassium channel tetramerisation domain containing 11"	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.594G>T	chr17.hg19:g.7256855G>T	ENSP00000328352:p.Glu198Asp		B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	hg19	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893530	0.72639	.	.	ENSG00000213859	ENST00000333751	T	0.79033	-1.23	4.79	1.74	0.24563	.	0.000000	0.46442	U	0.000295	T	0.76300	0.3968	L	0.29908	0.895	0.32060	N	0.595776	D	0.63880	0.993	D	0.67548	0.952	T	0.75184	-0.3407	10	0.46703	T	0.11	.	6.6193	0.22794	0.298:0.0:0.702:0.0	.	198	Q693B1	KCD11_HUMAN	D	198	ENSP00000328352:E198D	ENSP00000328352:E198D	E	+	3	2	KCTD11	7197579	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.616000	0.36933	0.258000	0.21686	-0.379000	0.06801	GAG		0.667	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		T	7256855	G	T	7256855	3	4	23	1	0	0	0	0	1	0	0	0	8100	991	35	4	596	4	KCTD11	17	7256855	Missense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	3693213	7256855	73938355	64	1640											
NF1	4763	hgsc.bcm.edu	37	17	29687644	29687644	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr17:29687644A>G	ENST00000358273.4	+	57	8683	c.8300A>G	c.(8299-8301)cAg>cGg	p.Q2767R	NF1_ENST00000444181.2_Missense_Mutation_p.Q560R|NF1_ENST00000356175.3_Missense_Mutation_p.Q2746R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2767					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTGCACTGCAGAGCCAGCTT	0.458			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											219	198	205					17																	29687644		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8300A>G	chr17.hg19:g.29687644A>G	ENSP00000351015:p.Gln2767Arg		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	hg19	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889195	0.91889	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.48836	3.15;3.29;2.98;0.8	5.87	5.87	0.94306	.	0.057056	0.64402	D	0.000001	T	0.43188	0.1236	N	0.24115	0.695	0.80722	D	1	D;B;B	0.56968	0.978;0.206;0.131	P;B;B	0.47402	0.546;0.085;0.039	T	0.41520	-0.9504	10	0.52906	T	0.07	.	16.27	0.82612	1.0:0.0:0.0:0.0	.	560;2746;2767	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	R	2767;2746;2412;560	ENSP00000351015:Q2767R;ENSP00000348498:Q2746R;ENSP00000389907:Q2412R;ENSP00000396481:Q560R	ENSP00000348498:Q2746R	Q	+	2	0	NF1	26711770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.000000	0.76290	2.248000	0.74166	0.533000	0.62120	CAG		0.458	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		G	29687644	A	G	29687644	3	3	23	1	0	0	0	0	1	0	0	0	10358	188	7	3	8587	3	NF1	17	29687644	Missense_Mutation	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10	22430789	29687644	51507566	65	1641											
ABCA10	10349	hgsc.bcm.edu	37	17	67146187	67146187	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr17:67146187G>A	ENST00000269081.4	-	38	5324	c.4415C>T	c.(4414-4416)gCg>gTg	p.A1472V	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1472					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAACTTATACGCCATTAAAGA	0.363																																																0													75	74	75					17																	67146187		2203	4300	6503	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4415C>T	chr17.hg19:g.67146187G>A	ENSP00000269081:p.Ala1472Val		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	hg19	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	0.086	-1.175617	0.01646	.	.	ENSG00000154263	ENST00000269081	D	0.82526	-1.62	3.15	-5.77	0.02369	.	0.651141	0.11480	U	0.559768	T	0.49115	0.1538	N	0.00869	-1.13	0.44067	D	0.99681	B;B	0.15719	0.007;0.014	B;B	0.09377	0.004;0.002	T	0.48410	-0.9038	10	0.02654	T	1	.	13.728	0.62769	0.6887:0.0:0.3113:0.0	.	464;1472	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	V	1472	ENSP00000269081:A1472V	ENSP00000269081:A1472V	A	-	2	0	ABCA10	64657782	0.001000	0.12720	0.000000	0.03702	0.064000	0.16182	-0.130000	0.10498	-1.288000	0.02378	-0.369000	0.07265	GCG		0.363	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		A	67146187	G	A	67146187	3	1	23	1	0	0	0	0	1	0	0	0	29	1087	38	1	228	1	ABCA10	17	67146187	Missense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	37458543	67146187	14049023	66	1642											
C17orf95	124512	hgsc.bcm.edu	37	17	74729620	74729620	+	Missense_Mutation	SNP	A	A	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr17:74729620A>C	ENST00000341249.6	+	5	757	c.425A>C	c.(424-426)gAa>gCa	p.E142A	METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586738.1_3'UTR|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000586622.1_5'Flank|MIR636_ENST00000384825.1_RNA|METTL23_ENST00000586752.1_Missense_Mutation_p.E75A|METTL23_ENST00000590964.1_Missense_Mutation_p.E75A|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000586200.1_Missense_Mutation_p.E23A|METTL23_ENST00000588822.1_Missense_Mutation_p.E75A|RP11-318A15.7_ENST00000587459.1_Intron	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	142						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						TGGTCACTTGAAGCTTTACTC	0.348																																																0													207	205	206					17																	74729620		1855	4090	5945	SO:0001583	missense	124512				CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"chromosome 17 open reading frame 95"	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.425A>C	chr17.hg19:g.74729620A>C	ENSP00000341543:p.Glu142Ala		H9ZYJ0|K7EK32	Missense_Mutation	SNP	ENST00000341249.6	hg19	CCDS45787.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.965668	0.53507	.	.	ENSG00000181038	ENST00000317409;ENST00000341249	T	0.24723	1.84	5.93	3.68	0.42216	.	0.279419	0.39615	N	0.001306	T	0.22244	0.0536	L	0.46157	1.445	0.51767	D	0.999939	B	0.16396	0.017	B	0.23852	0.049	T	0.03807	-1.1002	10	0.33940	T	0.23	-13.1078	8.6686	0.34137	0.8037:0.13:0.0664:0.0	.	142	Q86XA0	MET23_HUMAN	A	221;142	ENSP00000341543:E142A	ENSP00000316862:E221A	E	+	2	0	METTL23	72241215	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.715000	0.68430	0.480000	0.27534	0.533000	0.62120	GAA		0.348	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510		C	74729620	A	C	74729620	3	2	23	1	0	0	0	0	1	0	0	0	1894	246	9	5	439	5	C17orf95	17	74729620	Missense_Mutation	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10	7583433	74729620	6465590	67	1643											
ZNF750	79755	hgsc.bcm.edu	37	17	80789569	80789569	+	Silent	SNP	G	G	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr17:80789569G>C	ENST00000269394.3	-	2	1595	c.762C>G	c.(760-762)acC>acG	p.T254T	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	254					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCGAGTAGATGGTGGCCAGCC	0.582																																																0													64	69	67					17																	80789569		2203	4300	6503	SO:0001819	synonymous_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.762C>G	chr17.hg19:g.80789569G>C			Q9H899	Silent	SNP	ENST00000269394.3	hg19	CCDS11819.1																																																																																				0.582	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		C	80789569	G	C	80789569	2	2	23	1	0	0	0	0	0	0	0	1	18137	1335	47	4		4	ZNF750	17	80789569	Silent	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	6059949	80789569	405641	68	1644											
MYOM1	8736	hgsc.bcm.edu	37	18	3067525	3067525	+	Missense_Mutation	SNP	C	C	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr18:3067525C>G	ENST00000356443.4	-	38	5126	c.4793G>C	c.(4792-4794)gGa>gCa	p.G1598A	MYOM1_ENST00000400569.3_Missense_Mutation_p.G1598A|MYOM1_ENST00000261606.7_Missense_Mutation_p.G1502A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1598	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGCGGGTCTCCCCACACGTT	0.527																																																0													41	46	44					18																	3067525		2112	4239	6351	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4793G>C	chr18.hg19:g.3067525C>G	ENSP00000348821:p.Gly1598Ala		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	hg19	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340439	0.81911	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.79141	-1.24;-1.24;-1.24	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89529	0.6741	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89108	0.3494	10	0.51188	T	0.08	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	1502;1598	P52179-2;P52179	.;MYOM1_HUMAN	A	1598;1598;1502	ENSP00000348821:G1598A;ENSP00000383413:G1598A;ENSP00000261606:G1502A	ENSP00000261606:G1502A	G	-	2	0	MYOM1	3057525	1.000000	0.71417	0.967000	0.41034	0.469000	0.32828	7.818000	0.86416	2.734000	0.93682	0.655000	0.94253	GGA		0.527	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		G	3067525	C	G	3067525	3	3	23	1	0	0	0	0	1	0	0	0	10093	855	30	4	268	4	MYOM1	18	3067525	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10		3067525	75009723	69	1645											
ASXL3	80816	hgsc.bcm.edu	37	18	31325189	31325189	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr18:31325189G>C	ENST00000269197.5	+	12	5377	c.5377G>C	c.(5377-5379)Gag>Cag	p.E1793Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1793					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACAGCACCAGAGAGAAACGT	0.488																																																0													70	70	70					18																	31325189		1894	4124	6018	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5377G>C	chr18.hg19:g.31325189G>C	ENSP00000269197:p.Glu1793Gln		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	hg19	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663192	0.47572	.	.	ENSG00000141431	ENST00000269197	T	0.18174	2.23	5.7	5.7	0.88788	.	.	.	.	.	T	0.19525	0.0469	N	0.24115	0.695	0.31181	N	0.702038	D	0.54397	0.966	P	0.46479	0.518	T	0.01829	-1.1265	9	0.54805	T	0.06	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	1793	Q9C0F0	ASXL3_HUMAN	Q	1793	ENSP00000269197:E1793Q	ENSP00000269197:E1793Q	E	+	1	0	ASXL3	29579187	1.000000	0.71417	0.953000	0.39169	0.708000	0.40852	4.103000	0.57783	2.698000	0.92095	0.655000	0.94253	GAG		0.488	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			C	31325189	G	C	31325189	3	2	23	1	0	0	0	0	1	0	0	0	1068	943	33	4	5423	4	ASXL3	18	31325189	Missense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	28257664	31325189	46752059	70	1646											
CTDP1	9150	hgsc.bcm.edu	37	18	77440069	77440069	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr18:77440069C>T	ENST00000299543.7	+	1	269	c.122C>T	c.(121-123)gCg>gTg	p.A41V	CTDP1_ENST00000075430.7_Missense_Mutation_p.A41V|RP11-567M16.3_ENST00000317008.4_lincRNA	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	41					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCGGCGGGCGCGGCCGTGCGC	0.796																																																0																																										SO:0001583	missense	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.122C>T	chr18.hg19:g.77440069C>T	ENSP00000299543:p.Ala41Val		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	hg19	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719634	0.68844	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.10763	2.85;2.84	3.86	3.86	0.44501	.	0.208152	0.41294	D	0.000914	T	0.19604	0.0471	M	0.75085	2.285	0.49213	D	0.999765	D;P	0.55605	0.972;0.952	P;B	0.47626	0.552;0.349	T	0.10154	-1.0642	10	0.28530	T	0.3	-27.8058	15.3998	0.74830	0.0:1.0:0.0:0.0	.	41;41	Q9Y5B0-4;Q9Y5B0	.;CTDP1_HUMAN	V	41	ENSP00000299543:A41V;ENSP00000075430:A41V	ENSP00000075430:A41V	A	+	2	0	CTDP1	75541057	0.999000	0.42202	1.000000	0.80357	0.671000	0.39405	3.115000	0.50391	1.694000	0.51137	0.484000	0.47621	GCG		0.796	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		T	77440069	C	T	77440069	3	4	23	1	0	0	0	0	1	0	0	0	4004	768	27	1	124	1	CTDP1	18	77440069	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	46114880	77440069	637179	71	1647											
ABCA7	10347	hgsc.bcm.edu	37	19	1051189	1051189	+	Missense_Mutation	SNP	G	G	T	rs545859049		TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr19:1051189G>T	ENST00000263094.6	+	20	2951	c.2720G>T	c.(2719-2721)cGg>cTg	p.R907L	ABCA7_ENST00000433129.1_Missense_Mutation_p.R907L|ABCA7_ENST00000435683.2_Missense_Mutation_p.R769L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	907	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTATGGGCGGCTGAAGGGT	0.652																																																0													59	56	57					19																	1051189		2188	4290	6478	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2720G>T	chr19.hg19:g.1051189G>T	ENSP00000263094:p.Arg907Leu		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707765	0.48412	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	T;T	0.80480	-1.38;-1.38	4.37	4.37	0.52481	ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	D	0.85340	0.5674	L	0.56769	1.78	0.34708	D	0.727406	D;B	0.54047	0.964;0.05	P;B	0.59221	0.854;0.062	D	0.89415	0.3706	9	0.48119	T	0.1	.	14.3646	0.66799	0.0:0.0:1.0:0.0	.	769;907	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	L	907	ENSP00000263094:R907L;ENSP00000414062:R907L	ENSP00000263094:R907L	R	+	2	0	ABCA7	1002189	0.064000	0.20934	0.833000	0.33012	0.101000	0.19017	2.144000	0.42197	1.984000	0.57885	0.305000	0.20034	CGG		0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1051189	G	T	1051189	3	4	23	1	0	0	0	0	1	0	0	0	37	1116	39	4	2794	4	ABCA7	19	1051189	Missense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10		1051189	58077794	72	1648											
FBN3	84467	hgsc.bcm.edu	37	19	8130912	8130912	+	Missense_Mutation	SNP	C	C	T	rs139098536		TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr19:8130912C>T	ENST00000600128.1	-	64	8735	c.8321G>A	c.(8320-8322)cGg>cAg	p.R2774Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R2774Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R2774Q			Q75N90	FBN3_HUMAN	fibrillin 3	2774						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R2774L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACCTCCAGCCGGTAGGTTCC	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		15911	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	lung(1)						C	GLN/ARG	3,4401		0,3,2199	37	40	39		8321	-0.4	1	19	dbSNP_134	39	0,8594		0,0,4297	no	missense	FBN3	NM_032447.3	43	0,3,6496	TT,TC,CC		0.0,0.0681,0.0231	benign	2774/2810	8130912	3,12995	2202	4297	6499	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8321G>A	chr19.hg19:g.8130912C>T	ENSP00000470498:p.Arg2774Gln		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	hg19	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	3.458	-0.110482	0.06924	6.81E-4	0.0	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.86694	-2.16	4.55	-0.394	0.12434	.	0.739374	0.12731	N	0.443827	T	0.64427	0.2597	N	0.03608	-0.345	0.22066	N	0.999389	B;B	0.10296	0.0;0.003	B;B	0.04013	0.0;0.001	T	0.52260	-0.8599	10	0.14252	T	0.57	.	3.819	0.08827	0.1372:0.4926:0.1402:0.2301	.	2774;837	Q75N90;Q6ZNB8	FBN3_HUMAN;.	Q	2774;837	ENSP00000270509:R2774Q	ENSP00000270509:R2774Q	R	-	2	0	FBN3	8036912	0.000000	0.05858	0.987000	0.45799	0.104000	0.19210	-0.211000	0.09332	-0.062000	0.13088	-0.238000	0.12139	CGG		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8130912	C	T	8130912	3	4	23	1	0	0	0	0	1	0	0	0	5706	652	23	1	112	1	FBN3	19	8130912	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	7079723	8130912	50998071	73	1649											
CAPNS1	826	hgsc.bcm.edu	37	19	36631958	36631958	+	Silent	SNP	C	C	G	rs567500165		TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr19:36631958C>G	ENST00000246533.3	+	2	643	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000587718.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000588815.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	15	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcgggggaggcg	0.736													C|||	1	0.000199681	0.0	0.0	5008	,	,		3971	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(129;1541 1691 5780 18353 34150)											0													6	7	7					19																	36631958		1958	3947	5905	SO:0001819	synonymous_variant	826			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.45C>G	chr19.hg19:g.36631958C>G			A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	hg19	CCDS12489.1																																																																																				0.736	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			G	36631958	C	G	36631958	2	3	23	1	0	0	0	0	0	0	0	1	2635	755	27	4		4	CAPNS1	19	36631958	Silent	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	28501046	36631958	22497025	74	1650											
LILRB4	11006	hgsc.bcm.edu	37	19	55175397	55175397	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr19:55175397C>T	ENST00000391736.1	+	5	571	c.256C>T	c.(256-258)Cca>Tca	p.P86S	LILRB4_ENST00000270452.2_Missense_Mutation_p.P86S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P86S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P86S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P86S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	86	Ig-like C2-type 1.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATTCTCCATCCCATCCATGAC	0.582																																																0													313	275	288					19																	55175397		2203	4300	6503	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.256C>T	chr19.hg19:g.55175397C>T	ENSP00000375616:p.Pro86Ser		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	hg19	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	2.499	-0.315654	0.05422	.	.	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59	2.43	-3.34	0.04943	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07324	0.0185	L	0.35593	1.075	0.09310	N	1	B;B;B;B;B;P	0.45283	0.133;0.07;0.173;0.002;0.009;0.855	B;B;B;B;B;B	0.40199	0.029;0.016;0.017;0.006;0.01;0.322	T	0.25710	-1.0124	9	0.22706	T	0.39	.	2.2596	0.04063	0.4231:0.2687:0.0:0.3081	.	86;86;86;86;86;127	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6;C9JHA6	.;.;.;.;LIRB4_HUMAN;.	S	127;86;86;86;86;86;86	ENSP00000375616:P86S;ENSP00000270452:P86S;ENSP00000408995:P86S;ENSP00000375614:P86S;ENSP00000375613:P86S;ENSP00000401962:P86S	ENSP00000270452:P86S	P	+	1	0	LILRB4	59867209	0.000000	0.05858	0.005000	0.12908	0.017000	0.09413	-4.855000	0.00177	-0.487000	0.06735	0.407000	0.27541	CCA		0.582	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			T	55175397	C	T	55175397	3	4	23	1	0	0	0	0	1	0	0	0	8795	623	22	2	266	2	LILRB4	19	55175397	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	18543439	55175397	3953586	75	1651											
ZSCAN22	342945	hgsc.bcm.edu	37	19	58850450	58850450	+	Missense_Mutation	SNP	G	G	A	rs138721519		TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr19:58850450G>A	ENST00000329665.4	+	3	1381	c.1234G>A	c.(1234-1236)Gcg>Acg	p.A412T		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	412					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CAAGTGTGACGCGTGTGGCCG	0.582																																																0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	87	79	82		1234	0.6	0	19	dbSNP_134	82	0,8600		0,0,4300	no	missense	ZSCAN22	NM_181846.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	412/492	58850450	1,13005	2203	4300	6503	SO:0001583	missense	342945			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1234G>A	chr19.hg19:g.58850450G>A	ENSP00000332433:p.Ala412Thr		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	hg19	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	5.713	0.316043	0.10789	2.27E-4	0.0	ENSG00000182318	ENST00000329665	T	0.07567	3.18	3.84	0.551	0.17225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03011	0.0089	N	0.02539	-0.55	0.09310	N	1	B	0.29766	0.256	B	0.16722	0.016	T	0.40997	-0.9533	9	0.66056	D	0.02	.	7.5259	0.27656	0.3122:0.0:0.6878:0.0	.	412	P10073	ZSC22_HUMAN	T	412	ENSP00000332433:A412T	ENSP00000332433:A412T	A	+	1	0	ZSCAN22	63542262	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.917000	0.28665	0.410000	0.25675	-1.010000	0.02471	GCG		0.582	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		A	58850450	G	A	58850450	3	1	23	1	0	0	0	0	1	0	0	0	18239	1087	38	1	1240	1	ZSCAN22	19	58850450	Missense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	3675053	58850450	278533	76	1652											
SON	6651	hgsc.bcm.edu	37	21	34926409	34926409	+	Silent	SNP	T	T	C			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr21:34926409T>C	ENST00000356577.4	+	3	5347	c.4872T>C	c.(4870-4872)aaT>aaC	p.N1624N	SON_ENST00000290239.6_Silent_p.N1624N|SON_ENST00000381679.4_Silent_p.N1624N|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.N1624N	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1624					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GTTTAGTTAATAAATATGATG	0.383																																																0													55	56	56					21																	34926409		2203	4300	6503	SO:0001819	synonymous_variant	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4872T>C	chr21.hg19:g.34926409T>C			D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	hg19	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	2.148	-0.395098	0.04899	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.0	3.84	0.44239	.	.	.	.	.	T	0.47488	0.1448	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.39663	-0.9603	4	.	.	.	.	3.8858	0.09097	0.1818:0.1031:0.0:0.7151	.	.	.	.	T	619	.	.	I	+	2	0	SON	33848279	0.995000	0.38212	0.941000	0.38009	0.950000	0.60333	0.655000	0.24933	0.909000	0.36697	0.482000	0.46254	ATA		0.383	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34926409	T	C	34926409	2	2	23	1	0	0	0	0	0	0	0	1	14932	1403	49	3		3	SON	21	34926409	Silent	SNP	T	TCGA-2Z-A9JT-01A-11D-A42J-10		34926409	13203486	77	1653											
RIPK4	54101	hgsc.bcm.edu	37	21	43176834	43176834	+	Missense_Mutation	SNP	C	C	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr21:43176834C>A	ENST00000352483.2	-	2	389	c.325G>T	c.(325-327)Gct>Tct	p.A109S	RIPK4_ENST00000544709.1_Missense_Mutation_p.A46S|RIPK4_ENST00000542057.1_Missense_Mutation_p.A46S|RIPK4_ENST00000332512.3_Missense_Mutation_p.A109S			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTCCGAAGCCAGCAGCTTT	0.607																																																0													81	77	78					21																	43176834		2203	4300	6503	SO:0001583	missense	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.325G>T	chr21.hg19:g.43176834C>A	ENSP00000330161:p.Ala109Ser		Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	hg19		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043353	0.55003	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.97	4.97	0.65823	.	0.000000	0.56097	D	0.000021	T	0.61048	0.2316	N	0.11023	0.085	0.58432	D	0.999999	D	0.71674	0.998	D	0.80764	0.994	T	0.61407	-0.7069	10	0.28530	T	0.3	-33.7177	14.1534	0.65401	0.1503:0.8497:0.0:0.0	.	109	P57078-2	.	S	109;109;46;46	ENSP00000332454:A109S;ENSP00000330161:A109S;ENSP00000441754:A46S;ENSP00000442901:A46S	ENSP00000332454:A109S	A	-	1	0	RIPK4	42049903	1.000000	0.71417	0.980000	0.43619	0.369000	0.29798	5.852000	0.69488	2.466000	0.83321	0.563000	0.77884	GCT		0.607	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		A	43176834	C	A	43176834	3	1	23	1	0	0	0	0	1	0	0	0	13389	739	26	4	2057	4	RIPK4	21	43176834	Missense_Mutation	SNP	C	TCGA-2Z-A9JT-01A-11D-A42J-10	8250425	43176834	4953061	78	1654											
KRTAP12-1	353332	hgsc.bcm.edu	37	21	46101934	46101934	+	Nonsense_Mutation	SNP	G	G	T	rs56135164	byFrequency	TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr21:46101934G>T	ENST00000391617.1	-	1	144	c.105C>A	c.(103-105)tgC>tgA	p.C35*	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	35	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						TCACGGGCACGCACACGGAGG	0.687																																																0													58	68	64					21																	46101934		2189	4272	6461	SO:0001587	stop_gained	353332			AJ566388	CCDS42966.1	21q22.3	2006-03-13			ENSG00000187175	ENSG00000187175		"Keratin associated proteins"	20529	protein-coding gene	gene with protein product							Standard	NM_181686		Approved	KRTAP12.1, KAP12.1	uc002zfv.3	P59990	OTTHUMG00000057639	ENST00000391617.1:c.105C>A	chr21.hg19:g.46101934G>T	ENSP00000375475:p.Cys35*		Q0VAS3	Nonsense_Mutation	SNP	ENST00000391617.1	hg19	CCDS42966.1	.	.	.	.	.	.	.	.	.	.	a	8.104	0.777274	0.16120	.	.	ENSG00000187175	ENST00000391617	.	.	.	2.88	-1.66	0.08265	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4733	0.32999	0.5179:0.0:0.4821:0.0	.	.	.	.	X	35	.	ENSP00000375475:C35X	C	-	3	2	KRTAP12-1	44926362	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.346000	0.07760	-1.005000	0.03417	-3.231000	0.00052	TGC		0.687	KRTAP12-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128043.1	NM_181686		T	46101934	G	T	46101934	4	4	23	1	0	0	0	0	0	1	0	0	8520	1079	38	4	189	4	KRTAP12-1	21	46101934	Nonsense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	2925100	46101934	2027961	79	1655											
MICAL3	57553	hgsc.bcm.edu	37	22	18383762	18383762	+	Splice_Site	DEL	C	C	-			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr22:18383762delC	ENST00000441493.2	-	6	1045	c.693delG	c.(691-693)ggg>gg	p.G231fs	MICAL3_ENST00000429452.1_Splice_Site_p.G231fs|MICAL3_ENST00000585038.1_Splice_Site_p.G231fs|MICAL3_ENST00000444520.1_Splice_Site_p.G231fs|MICAL3_ENST00000414725.2_Splice_Site_p.G231fs|MICAL3_ENST00000207726.7_Splice_Site_p.G231fs|MICAL3_ENST00000400561.2_Splice_Site_p.G231fs|MICAL3_ENST00000383094.3_Splice_Site_p.G231fs	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	231	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCGACGAAACCCTGGAGGGA	0.438																																																0													115	101	105					22																	18383762		1568	3582	5150	SO:0001630	splice_region_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.692-1G>-	chr22.hg19:g.18383762delC			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	ENST00000441493.2	hg19	CCDS46659.1																																																																																				0.438	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		Frame_Shift_Del	-	18383762	C	-	18383762	8	5	23	1	0	1	0	1	0	0	1	0	9573	521	18	0	6160	0	MICAL3	22	18383762	Splice_Site	DEL	C	TCGA-2Z-A9JT-01A-11D-A42J-10		18383762	32920804	80	1656											
L3MBTL2	83746	hgsc.bcm.edu	37	22	41616759	41616759	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr22:41616759A>G	ENST00000216237.5	+	7	898	c.740A>G	c.(739-741)tAt>tGt	p.Y247C		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	247					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGCTTCGGTATGAAGGCTTT	0.498																																																0													120	105	110					22																	41616759		2203	4300	6503	SO:0001583	missense	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.740A>G	chr22.hg19:g.41616759A>G	ENSP00000216237:p.Tyr247Cys		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	hg19	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306926	0.40795	.	.	ENSG00000100395	ENST00000216237	T	0.53423	0.62	5.37	5.37	0.77165	.	0.335401	0.36101	N	0.002788	T	0.72244	0.3436	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.975;0.997	T	0.77778	-0.2460	10	0.87932	D	0	.	15.677	0.77336	1.0:0.0:0.0:0.0	.	247;247	Q969R5-3;Q969R5	.;LMBL2_HUMAN	C	247	ENSP00000216237:Y247C	ENSP00000216237:Y247C	Y	+	2	0	L3MBTL2	39946705	1.000000	0.71417	0.933000	0.37362	0.815000	0.46073	9.279000	0.95777	2.169000	0.68431	0.374000	0.22700	TAT		0.498	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		G	41616759	A	G	41616759	3	3	23	1	0	0	0	0	1	0	0	0	8594	449	16	3	766	3	L3MBTL2	22	41616759	Missense_Mutation	SNP	A	TCGA-2Z-A9JT-01A-11D-A42J-10	23232997	41616759	9687807	81	1657											
SAPS2	9701	hgsc.bcm.edu	37	22	50860699	50860699	+	Missense_Mutation	SNP	G	G	A			TCGA-2Z-A9JT-01A-11D-A42J-10	TCGA-2Z-A9JT-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a0ad5b36-8f0c-4c60-9ff2-0992e47d1368	bcef5136-1bb4-4cff-a8db-659687674ecd	g.chr22:50860699G>A	ENST00000216061.5	+	10	1232	c.862G>A	c.(862-864)Gac>Aac	p.D288N	PPP6R2_ENST00000359139.3_Missense_Mutation_p.D288N|PPP6R2_ENST00000395744.3_Missense_Mutation_p.D288N|PPP6R2_ENST00000395741.3_Missense_Mutation_p.D289N			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	288						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GGGCTTGGTGGACTCCTTTTC	0.582																																																0													102	99	100					22																	50860699		2203	4300	6503	SO:0001583	missense	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.862G>A	chr22.hg19:g.50860699G>A	ENSP00000216061:p.Asp288Asn		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	hg19		.	.	.	.	.	.	.	.	.	.	G	18.28	3.589334	0.66105	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.32753	1.45;1.49;1.45;1.44	5.32	5.32	0.75619	.	0.135251	0.64402	D	0.000003	T	0.30230	0.0758	L	0.44542	1.39	0.40878	D	0.983972	B;B;B;B;B	0.15473	0.01;0.013;0.005;0.01;0.005	B;B;B;B;B	0.31869	0.084;0.137;0.03;0.084;0.03	T	0.09751	-1.0660	10	0.36615	T	0.2	-27.8965	11.6177	0.51099	0.0:0.0:0.8222:0.1778	.	288;288;289;288;288	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	N	288;289;288;288	ENSP00000352051:D288N;ENSP00000379090:D289N;ENSP00000379093:D288N;ENSP00000216061:D288N	ENSP00000216061:D288N	D	+	1	0	PPP6R2	49207565	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.233000	0.95337	2.498000	0.84270	0.456000	0.33151	GAC		0.582	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		A	50860699	G	A	50860699	3	1	23	1	0	0	0	0	1	0	0	0	13843	1174	41	2	888	2	SAPS2	22	50860699	Missense_Mutation	SNP	G	TCGA-2Z-A9JT-01A-11D-A42J-10	9243940	50860699	443867	82	1658											
C1orf93	127281	hgsc.bcm.edu	37	1	2518720	2518720	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr1:2518720A>T	ENST00000378425.5	+	2	330	c.254A>T	c.(253-255)gAc>gTc	p.D85V	FAM213B_ENST00000537325.1_Missense_Mutation_p.D115V|RP3-395M20.9_ENST00000424215.1_RNA|FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000419916.2_Missense_Mutation_p.D115V|FAM213B_ENST00000444521.2_Missense_Mutation_p.D85V|FAM213B_ENST00000378424.4_Missense_Mutation_p.D115V			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	85					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|myelin sheath (GO:0043209)	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|prostaglandin-F synthase activity (GO:0047017)										CTGGACGGCGACTACTTCGCG	0.706																																																0													17	18	18					1																	2518720		2183	4281	6464	SO:0001583	missense	127281			AK075273	CCDS44.1, CCDS44.2, CCDS55564.1, CCDS72690.1, CCDS72691.1	1p36.32	2011-12-08	2011-11-24	2011-11-24	ENSG00000157870	ENSG00000157870	1.11.1.20		28390	protein-coding gene	gene with protein product	"prostamide/prostaglandin F synthase"		"chromosome 1 open reading frame 93"	C1orf93		18006499	Standard	NM_152371		Approved	MGC26818	uc001ajv.2	Q8TBF2	OTTHUMG00000000847	ENST00000378425.5:c.254A>T	chr1.hg19:g.2518720A>T	ENSP00000367682:p.Asp85Val		A8K793|B3KPY3|B4DQR9|B4E0S5|B7ZAC8|B9DI90|B9DI92|J3KQD0|Q8N2H0	Missense_Mutation	SNP	ENST00000378425.5	hg19		.	.	.	.	.	.	.	.	.	.	A	10.52	1.372724	0.24857	.	.	ENSG00000157870	ENST00000419916;ENST00000378424;ENST00000537325;ENST00000378425;ENST00000444521	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	3.88	1.78	0.24846	.	0.350346	0.29403	N	0.012249	T	0.22627	0.0546	N	0.14661	0.345	0.34956	D	0.751689	B;B;P;B;B;B	0.35821	0.147;0.001;0.523;0.049;0.057;0.071	B;B;B;B;B;B	0.37267	0.009;0.002;0.245;0.005;0.118;0.187	T	0.21724	-1.0237	10	0.54805	T	0.06	-4.8025	4.8945	0.13744	0.3022:0.0:0.6978:0.0	.	115;85;115;85;85;85	Q8TBF2-5;Q8TBF2-4;Q8TBF2-6;Q8TBF2-2;Q8TBF2-3;Q8TBF2	.;.;.;.;.;PGFS_HUMAN	V	115;115;115;85;85	ENSP00000394405:D115V;ENSP00000367681:D115V;ENSP00000443605:D115V;ENSP00000367682:D85V;ENSP00000413218:D85V	ENSP00000367681:D115V	D	+	2	0	C1orf93	2508580	1.000000	0.71417	0.999000	0.59377	0.013000	0.08279	2.355000	0.44107	0.830000	0.34757	-0.381000	0.06696	GAC		0.706	FAM213B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152371		T	2518720	A	T	2518720	3	4	24	1	0	0	0	0	1	0	0	0	2072	275	10	5	260	5	C1orf93	1	2518720	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10		2518720	246731901	1	1659											
UBE4B	10277	hgsc.bcm.edu	37	1	10177640	10177640	+	Missense_Mutation	SNP	G	G	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr1:10177640G>C	ENST00000253251.8	+	7	1772	c.933G>C	c.(931-933)gaG>gaC	p.E311D	UBE4B_ENST00000377157.3_Missense_Mutation_p.E195D|UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.E440D					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTGGAATAGAGGAAAAAAAAG	0.373																																																0													49	50	49					1																	10177640		2203	4300	6503	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.933G>C	chr1.hg19:g.10177640G>C	ENSP00000253251:p.Glu311Asp			Missense_Mutation	SNP	ENST00000253251.8	hg19	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209310	0.79240	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.49139	0.79;0.79;0.79	6.03	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.61703	1.905	0.54753	D	0.999985	D;D	0.69078	0.997;0.974	D;D	0.72625	0.978;0.969	T	0.57797	-0.7749	10	0.51188	T	0.08	-29.0009	8.8347	0.35104	0.337:0.0:0.663:0.0	.	440;311	O95155;O95155-2	UBE4B_HUMAN;.	D	311;195;440	ENSP00000253251:E311D;ENSP00000366362:E195D;ENSP00000343001:E440D	ENSP00000253251:E311D	E	+	3	2	UBE4B	10100227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.338000	0.43957	0.441000	0.26529	0.655000	0.94253	GAG		0.373	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		C	10177640	G	C	10177640	3	2	24	1	0	0	0	0	1	0	0	0	16888	991	35	4	1350	4	UBE4B	1	10177640	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	7658920	10177640	239072981	2	1660											
MAP3K6	9064	hgsc.bcm.edu	37	1	27689486	27689486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr1:27689486delT	ENST00000493901.1	-	8	1237	c.998delA	c.(997-999)aagfs	p.K333fs	MAP3K6_ENST00000374040.3_Frame_Shift_Del_p.K325fs|MAP3K6_ENST00000357582.2_Frame_Shift_Del_p.K333fs	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	333					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGACAGGGCCTTCGCCCGGTC	0.607																																																0													33	38	36					1																	27689486		2203	4300	6503	SO:0001589	frameshift_variant	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.998delA	chr1.hg19:g.27689486delT	ENSP00000419591:p.Lys333fs		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Frame_Shift_Del	DEL	ENST00000493901.1	hg19	CCDS299.1																																																																																				0.607	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		-	27689486	T	-	27689486	7	5	24	1	0	1	0	1	0	0	0	0	9256	1609	56	0	2960	0	MAP3K6	1	27689486	Frame_Shift_Del	DEL	T	TCGA-4A-A93W-01A-11D-A36X-10	17511846	27689486	221561135	3	1661											
S100A6	6277	hgsc.bcm.edu	37	1	153507304	153507304	+	Silent	SNP	C	C	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr1:153507304C>T	ENST00000368720.2	-	4	443	c.141G>A	c.(139-141)aaG>aaA	p.K47K	S100A6_ENST00000496817.1_Silent_p.K47K|S100A6_ENST00000368719.4_Silent_p.K47K|BX470102.3_ENST00000420695.1_RNA			P06703	S10A6_HUMAN	S100 calcium binding protein A6	47	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axonogenesis (GO:0007409)|positive regulation of fibroblast proliferation (GO:0048146)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|ion transmembrane transporter activity (GO:0015075)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)|tropomyosin binding (GO:0005523)|zinc ion binding (GO:0008270)			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATCCTGCAGCTTCTAATGTG	0.522																																																0													106	101	102					1																	153507304		2203	4300	6503	SO:0001819	synonymous_variant	6277			BC001431	CCDS1040.1	1q21	2013-01-10	2006-09-11		ENSG00000197956	ENSG00000197956		"S100 calcium binding proteins", "EF-hand domain containing"	10496	protein-coding gene	gene with protein product		114110	"S100 calcium-binding protein A6 (calcyclin)", "S100 calcium binding protein A6 (calcyclin)"	CACY			Standard	NM_014624		Approved	2A9, PRA, CABP	uc001fbw.1	P06703	OTTHUMG00000013549	ENST00000368720.2:c.141G>A	chr1.hg19:g.153507304C>T			D3DV39|Q5RHS4	Silent	SNP	ENST00000368720.2	hg19	CCDS1040.1																																																																																				0.522	S100A6-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037723.2	NM_014624		T	153507304	C	T	153507304	2	4	24	1	0	0	0	0	0	0	0	1	13788	796	28	2		2	S100A6	1	153507304	Silent	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	125817818	153507304	95743317	4	1662											
C1orf43	25912	hgsc.bcm.edu	37	1	154180025	154180025	+	Silent	SNP	T	T	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr1:154180025T>G	ENST00000368521.5	-	7	864	c.666A>C	c.(664-666)acA>acC	p.T222T	C1orf43_ENST00000350592.3_Silent_p.T188T|C1orf43_ENST00000362076.4_Silent_p.T170T|C1orf189_ENST00000368525.3_5'Flank|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000368519.1_Silent_p.T204T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	222						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					AGGGGAGGTATGTCACCTGGA	0.493																																																0													222	210	214					1																	154180025		2203	4300	6503	SO:0001819	synonymous_variant	25912			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.666A>C	chr1.hg19:g.154180025T>G			A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Silent	SNP	ENST00000368521.5	hg19	CCDS41404.1																																																																																				0.493	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		G	154180025	T	G	154180025	2	3	24	1	0	0	0	0	0	0	0	1	2042	1451	51	5		5	C1orf43	1	154180025	Silent	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10	672721	154180025	95070596	5	1663											
YY1AP1	55249	hgsc.bcm.edu	37	1	155646420	155646420	+	Silent	SNP	A	A	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr1:155646420A>C	ENST00000295566.4	-	5	464	c.441T>G	c.(439-441)gtT>gtG	p.V147V	YY1AP1_ENST00000535662.1_5'UTR|YY1AP1_ENST00000359205.5_Silent_p.V70V|YY1AP1_ENST00000368339.5_Silent_p.V219V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368330.2_Silent_p.V81V|YY1AP1_ENST00000438245.2_Silent_p.V81V|YY1AP1_ENST00000405763.3_Silent_p.V219V|YY1AP1_ENST00000361831.5_Silent_p.V70V|YY1AP1_ENST00000404643.1_Silent_p.V81V|YY1AP1_ENST00000347088.5_Silent_p.V81V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000311573.5_Silent_p.V70V|YY1AP1_ENST00000355499.4_Silent_p.V81V|YY1AP1_ENST00000368340.5_Silent_p.V219V|YY1AP1_ENST00000407221.1_Silent_p.V70V|MSTO1_ENST00000538143.1_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	147					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTGGGGTTTAACCTTCTCTA	0.458																																																0													270	218	235					1																	155646420		2203	4300	6503	SO:0001819	synonymous_variant	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.441T>G	chr1.hg19:g.155646420A>C			B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	ENST00000295566.4	hg19	CCDS1115.1																																																																																				0.458	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		C	155646420	A	C	155646420	2	2	24	1	0	0	0	0	0	0	0	1	17513	349	13	5		5	YY1AP1	1	155646420	Silent	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	1466395	155646420	93604201	6	1664											
LHX4	89884	hgsc.bcm.edu	37	1	180235629	180235629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr1:180235629C>A	ENST00000263726.2	+	3	595	c.351C>A	c.(349-351)tgC>tgA	p.C117*		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	117	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCTTTGCTTGCATCATCTGCA	0.607																																																0													70	68	68					1																	180235629		2203	4300	6503	SO:0001587	stop_gained	89884			AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"Homeoboxes / LIM class"	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.351C>A	chr1.hg19:g.180235629C>A	ENSP00000263726:p.Cys117*		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Nonsense_Mutation	SNP	ENST00000263726.2	hg19	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	C	37	6.072372	0.97256	.	.	ENSG00000121454	ENST00000263726	.	.	.	5.25	2.39	0.29439	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0658	0.30659	0.0:0.6782:0.0:0.3218	.	.	.	.	X	117	.	ENSP00000263726:C117X	C	+	3	2	LHX4	178502252	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	1.245000	0.32790	0.243000	0.21327	-0.768000	0.03414	TGC		0.607	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		A	180235629	C	A	180235629	4	1	24	1	0	0	0	0	0	1	0	0	8775	718	25	4	361	4	LHX4	1	180235629	Nonsense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	24589209	180235629	69014992	7	1665											
IARS2	55699	hgsc.bcm.edu	37	1	220267580	220267580	+	Missense_Mutation	SNP	C	C	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr1:220267580C>T	ENST00000302637.5	+	1	126	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	IARS2_ENST00000366922.1_5'UTR	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	8					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GCTGCGCCCTcgcgggccggg	0.731																																																0													6	8	8					1																	220267580		1994	4041	6035	SO:0001583	missense	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.22C>T	chr1.hg19:g.220267580C>T	ENSP00000303279:p.Arg8Cys		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	hg19	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543372	0.45280	.	.	ENSG00000067704	ENST00000302637	T	0.18174	2.23	4.13	1.07	0.20283	.	1.149520	0.06488	N	0.734164	T	0.14787	0.0357	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38542	-0.9656	10	0.87932	D	0	-5.9953	2.5425	0.04730	0.1499:0.5218:0.1466:0.1817	.	8	Q9NSE4	SYIM_HUMAN	C	8	ENSP00000303279:R8C	ENSP00000303279:R8C	R	+	1	0	IARS2	218334203	0.000000	0.05858	0.042000	0.18584	0.137000	0.21094	-0.922000	0.04004	0.933000	0.37291	0.591000	0.81541	CGC		0.731	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		T	220267580	C	T	220267580	3	4	24	1	0	0	0	0	1	0	0	0	7476	884	31	1	24	1	IARS2	1	220267580	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	40031951	220267580	28983041	8	1666											
TLR5	7100	hgsc.bcm.edu	37	1	223285550	223285550	+	Missense_Mutation	SNP	T	T	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr1:223285550T>A	ENST00000540964.1	-	4	1285	c.824A>T	c.(823-825)aAa>aTa	p.K275I	TLR5_ENST00000342210.6_Missense_Mutation_p.K275I			O60602	TLR5_HUMAN	toll-like receptor 5	275					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GTCAGGATCTTTGATGTTATG	0.483																																																0													87	79	81					1																	223285550		2203	4300	6503	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.824A>T	chr1.hg19:g.223285550T>A	ENSP00000440643:p.Lys275Ile		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	hg19	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.692938	0.48202	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.38401	1.14;1.14;1.14	5.27	-1.58	0.08479	.	0.412136	0.25484	N	0.030354	T	0.53867	0.1823	M	0.79258	2.445	0.09310	N	1	P	0.47910	0.902	D	0.63597	0.916	T	0.52586	-0.8556	10	0.72032	D	0.01	.	11.276	0.49168	0.0:0.4375:0.0:0.5625	.	275	O60602	TLR5_HUMAN	I	275	ENSP00000440643:K275I;ENSP00000355846:K275I;ENSP00000340089:K275I	ENSP00000340089:K275I	K	-	2	0	TLR5	221352173	0.002000	0.14202	0.001000	0.08648	0.734000	0.41952	0.246000	0.18160	-0.591000	0.05859	0.533000	0.62120	AAA		0.483	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		A	223285550	T	A	223285550	3	1	24	1	0	0	0	0	1	0	0	0	15959	1841	64	5	1756	5	TLR5	1	223285550	Missense_Mutation	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10	3017970	223285550	25965071	9	1667											
RYR2	6262	hgsc.bcm.edu	37	1	237713903	237713903	+	Silent	SNP	C	C	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr1:237713903C>A	ENST00000366574.2	+	27	3443	c.3126C>A	c.(3124-3126)acC>acA	p.T1042T	RYR2_ENST00000360064.6_Silent_p.T1040T|RYR2_ENST00000542537.1_Silent_p.T1026T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1042	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGACCGAACCAAGAAATCCA	0.507																																																0													117	109	112					1																	237713903		1927	4150	6077	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3126C>A	chr1.hg19:g.237713903C>A			Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	hg19	CCDS55691.1																																																																																				0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237713903	C	A	237713903	2	1	24	1	0	0	0	0	0	0	0	1	13775	581	21	4		4	RYR2	1	237713903	Silent	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	14428353	237713903	11536718	10	1668											
GRHL1	29841	hgsc.bcm.edu	37	2	10105481	10105481	+	Missense_Mutation	SNP	T	T	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr2:10105481T>C	ENST00000324907.9	+	8	1217	c.1081T>C	c.(1081-1083)Ttc>Ctc	p.F361L	GRHL1_ENST00000324883.5_Missense_Mutation_p.F172L|GRHL1_ENST00000405379.2_Missense_Mutation_p.F361L	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	361					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CGCCATTTCCTTCACATGGGA	0.443																																																0													139	132	135					2																	10105481		2203	4300	6503	SO:0001583	missense	29841			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1081T>C	chr2.hg19:g.10105481T>C	ENSP00000324693:p.Phe361Leu		A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	hg19	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	T	32	5.124591	0.94429	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.18810	2.19;2.19;2.19	5.46	5.46	0.80206	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.65158	-0.6236	10	0.72032	D	0.01	-1.3111	15.5346	0.75993	0.0:0.0:0.0:1.0	.	172;361	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	L	361;172;361	ENSP00000384209:F361L;ENSP00000324494:F172L;ENSP00000324693:F361L	ENSP00000324494:F172L	F	+	1	0	GRHL1	10022932	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.992000	0.88273	2.054000	0.61138	0.528000	0.53228	TTC		0.443	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		C	10105481	T	C	10105481	3	2	24	1	0	0	0	0	1	0	0	0	6765	1609	56	3	1111	3	GRHL1	2	10105481	Missense_Mutation	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10		10105481	233093892	11	1669	17	2									
GRHL1	29841	hgsc.bcm.edu	37	2	10105483	10105483	+	Silent	SNP	C	C	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr2:10105483C>T	ENST00000324907.9	+	8	1219	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	GRHL1_ENST00000324883.5_Silent_p.F172F|GRHL1_ENST00000405379.2_Silent_p.F361F	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	361					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CCATTTCCTTCACATGGGACA	0.443																																																0													138	130	133					2																	10105483		2203	4300	6503	SO:0001819	synonymous_variant	29841			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1083C>T	chr2.hg19:g.10105483C>T			A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Silent	SNP	ENST00000324907.9	hg19	CCDS33144.2																																																																																				0.443	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		T	10105483	C	T	10105483	2	4	24	1	0	0	0	0	0	0	0	1	6765	825	29	2		2	GRHL1	2	10105483	Silent	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	2	10105483	233093890	12	1670	17	2									
ADCY3	109	hgsc.bcm.edu	37	2	25095499	25095499	+	Silent	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr2:25095499G>A	ENST00000260600.5	-	2	1616	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	255					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGGCCTCCAGGAAGGCCTTGC	0.632																																																0													84	84	84					2																	25095499		2203	4300	6503	SO:0001819	synonymous_variant	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.765C>T	chr2.hg19:g.25095499G>A			B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	hg19	CCDS1715.1																																																																																				0.632	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			A	25095499	G	A	25095499	2	1	24	1	0	0	0	0	0	0	0	1	295	1165	41	2		2	ADCY3	2	25095499	Silent	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	14990016	25095499	218103874	13	1671											
SULT1C4	27233	hgsc.bcm.edu	37	2	108999668	108999668	+	Silent	SNP	T	T	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr2:108999668T>C	ENST00000272452.2	+	4	839	c.513T>C	c.(511-513)gcT>gcC	p.A171A	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	171					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CTTTTCTGGCTGGGAAAGGTG	0.423																																																0													106	103	104					2																	108999668		2203	4300	6503	SO:0001819	synonymous_variant	27233			AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.513T>C	chr2.hg19:g.108999668T>C			Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000272452.2	hg19	CCDS2077.1																																																																																				0.423	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		C	108999668	T	C	108999668	2	2	24	1	0	0	0	0	0	0	0	1	15384	1567	55	3		3	SULT1C4	2	108999668	Silent	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10	83904169	108999668	134199705	14	1672											
MERTK	10461	hgsc.bcm.edu	37	2	112767644	112767644	+	Splice_Site	SNP	G	G	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr2:112767644G>C	ENST00000295408.4	+	15	2336		c.e15+1		MERTK_ENST00000409780.1_Splice_Site|MERTK_ENST00000421804.2_Splice_Site			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase						apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGGACCAAAGGTAATGATCTC	0.448																																																0													140	135	137					2																	112767644		2203	4300	6503	SO:0001630	splice_region_variant	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2079+1G>C	chr2.hg19:g.112767644G>C			Q9HBB4	Splice_Site	SNP	ENST00000295408.4	hg19	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737730	0.89573	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1899	0.98228	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MERTK	112484115	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.731000	0.91529	2.873000	0.98535	0.563000	0.77884	.		0.448	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		Intron	C	112767644	G	C	112767644	5	2	24	1	0	0	0	0	0	0	1	0	9481	1275	44	4	2138	4	MERTK	2	112767644	Splice_Site	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	3767976	112767644	130431729	15	1673											
KLHL23	151230	hgsc.bcm.edu	37	2	170592248	170592248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr2:170592248C>T	ENST00000392647.2	+	2	968	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	KLHL23_ENST00000272797.4_Nonsense_Mutation_p.Q242*|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	242										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CTTAGGCCTTCAAAGAAGCTG	0.403																																																0													61	64	63					2																	170592248		2203	4299	6502	SO:0001587	stop_gained	151230			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.724C>T	chr2.hg19:g.170592248C>T	ENSP00000376419:p.Gln242*		Q8N9B9|Q96FT8	Nonsense_Mutation	SNP	ENST00000392647.2	hg19	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617647	0.87359	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	.	.	.	5.81	5.81	0.92471	.	0.177188	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	14.2573	0.66060	0.0:0.9292:0.0:0.0708	.	.	.	.	X	242;242;63	.	ENSP00000272797:Q242X	Q	+	1	0	KLHL23	170300494	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.335000	0.52105	2.738000	0.93877	0.655000	0.94253	CAA		0.403	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		T	170592248	C	T	170592248	4	4	24	1	0	0	0	0	0	1	0	0	8380	827	29	2	726	2	KLHL23	2	170592248	Nonsense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	57824604	170592248	72607125	16	1674											
MYO3B	140469	hgsc.bcm.edu	37	2	171319897	171319898	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr2:171319897_171319898insA	ENST00000408978.4	+	24	2893_2894	c.2750_2751insA	c.(2749-2754)atacggfs	p.R918fs	MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.R918fs|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.R927fs|MYO3B_ENST00000602629.1_Intron	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	918	Myosin motor.		R -> Q (in dbSNP:rs55769829). {ECO:0000269|PubMed:17344846}.		peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTGGAGGTGATACGGCATCCGG	0.49																																																0																																										SO:0001589	frameshift_variant	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2751dupA	chr2.hg19:g.171319898_171319898dupA	ENSP00000386213:p.Arg918fs		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	hg19	CCDS42773.1																																																																																				0.49	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			A	171319898	-	A	171319897	7	5	24	1	0	1	1	0	0	0	0	0	10079	1406	49	0	2844	0	MYO3B	2	171319897	Frame_Shift_Ins	INS	-	TCGA-4A-A93W-01A-11D-A36X-10	727649	171319897	71879476	17	1675											
TTN	7273	hgsc.bcm.edu	37	2	179506980	179506980	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr2:179506980T>G	ENST00000591111.1	-	169	35843	c.35619A>C	c.(35617-35619)gaA>gaC	p.E11873D	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E13514D|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4574D|TTN_ENST00000460472.2_Missense_Mutation_p.E4449D|TTN_ENST00000342175.6_Missense_Mutation_p.E4641D|TTN_ENST00000342992.6_Missense_Mutation_p.E10946D|RP11-171I2.3_ENST00000605021.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	11873	Glu-rich.|Pro-rich.				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)			TCAGAACAACTTCTTCCTTTG	0.328																																																0													55	52	53					2																	179506980		1811	4066	5877	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35619A>C	chr2.hg19:g.179506980T>G	ENSP00000465570:p.Glu11873Asp		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	T	17.18	3.324057	0.60634	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.70399	-0.48;0.16;0.1;0.13	5.55	4.4	0.53042	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.74283	0.3696	L	0.46157	1.445	0.35153	D	0.769946	B;B;B;B;D	0.65815	0.256;0.256;0.256;0.38;0.995	B;B;B;B;P	0.57371	0.133;0.133;0.133;0.133;0.819	T	0.81068	-0.1100	9	0.87932	D	0	.	10.6265	0.45510	0.0:0.0763:0.0:0.9237	.	4449;4574;4641;11873;10640	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	D	10946;4449;4641;4574;4449;835;173	ENSP00000343764:E10946D;ENSP00000434586:E4449D;ENSP00000340554:E4641D;ENSP00000352154:E4574D	ENSP00000340554:E4641D	E	-	3	2	TTN	179215225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.633000	0.54295	0.953000	0.37825	0.482000	0.46254	GAA		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179506980	T	G	179506980	3	3	24	1	0	0	0	0	1	0	0	0	16740	1606	56	5	67727	5	TTN	2	179506980	Missense_Mutation	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10	8187083	179506980	63692393	18	1676											
INO80D	54891	hgsc.bcm.edu	37	2	206921321	206921321	+	Missense_Mutation	SNP	C	C	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr2:206921321C>G	ENST00000403263.1	-	4	969	c.565G>C	c.(565-567)Gtt>Ctt	p.V189L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	189					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCTTGTCGAACTTTTAAAATC	0.502																																																0													44	47	46					2																	206921321		2046	4186	6232	SO:0001583	missense	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.565G>C	chr2.hg19:g.206921321C>G	ENSP00000384198:p.Val189Leu		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	hg19	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227209	0.39399	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.29917	1.55;1.55	5.7	5.7	0.88788	.	0.195959	0.45126	D	0.000397	T	0.26919	0.0659	N	0.19112	0.55	0.40562	D	0.981221	P	0.40834	0.73	B	0.41202	0.35	T	0.02654	-1.1128	10	0.36615	T	0.2	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	189	Q53TQ3-2	.	L	189;189;84	ENSP00000384198:V189L;ENSP00000402369:V84L	ENSP00000233270:V189L	V	-	1	0	INO80D	206629566	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.880000	0.39628	2.695000	0.91970	0.561000	0.74099	GTT		0.502	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		G	206921321	C	G	206921321	3	3	24	1	0	0	0	0	1	0	0	0	7751	565	20	4	2550	4	INO80D	2	206921321	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	27414341	206921321	36278052	19	1677											
DGKD	8527	hgsc.bcm.edu	37	2	234343452	234343452	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr2:234343452A>T	ENST00000264057.2	+	5	503	c.491A>T	c.(490-492)cAc>cTc	p.H164L	DGKD_ENST00000409813.3_Missense_Mutation_p.H120L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	164					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCAGGGATGCACAATTGGTAC	0.537																																																0													196	171	179					2																	234343452		2203	4300	6503	SO:0001583	missense	8527			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.491A>T	chr2.hg19:g.234343452A>T	ENSP00000264057:p.His164Leu		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	hg19	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.772147	0.90108	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	D;D;T;D	0.99719	-6.52;-6.52;1.65;-6.52	4.92	4.92	0.64577	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.166625	0.39759	N	0.001280	D	0.99819	0.9920	H	0.96691	3.865	0.80722	D	1	P;D;D;B	0.89917	0.763;1.0;0.999;0.055	P;D;D;B	0.97110	0.656;1.0;0.994;0.081	D	0.96723	0.9534	10	0.87932	D	0	.	15.0541	0.71897	1.0:0.0:0.0:0.0	.	48;100;120;164	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	L	164;100;134;120	ENSP00000264057:H164L;ENSP00000407938:H100L;ENSP00000395530:H134L;ENSP00000386455:H120L	ENSP00000264057:H164L	H	+	2	0	DGKD	234008191	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	8.631000	0.90991	2.200000	0.70718	0.460000	0.39030	CAC		0.537	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		T	234343452	A	T	234343452	3	4	24	1	0	0	0	0	1	0	0	0	4469	159	6	5	533	5	DGKD	2	234343452	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	27422131	234343452	8855921	20	1678											
CHL1	10752	hgsc.bcm.edu	37	3	433428	433428	+	Silent	SNP	A	A	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr3:433428A>G	ENST00000256509.2	+	23	3504	c.2862A>G	c.(2860-2862)ctA>ctG	p.L954L	CHL1_ENST00000397491.2_Silent_p.L938L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTGGGGACTACCTAAGAAAT	0.313																																																0													84	85	85					3																	433428		2203	4300	6503	SO:0001819	synonymous_variant	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2862A>G	chr3.hg19:g.433428A>G			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	hg19	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	6.380	0.438192	0.12104	.	.	ENSG00000134121	ENST00000445697	.	.	.	5.62	-5.76	0.02376	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43360	-0.9396	4	.	.	.	.	0.6894	0.00888	0.2664:0.179:0.3048:0.2498	.	.	.	.	C	141	.	.	Y	+	2	0	CHL1	408428	0.026000	0.19158	0.042000	0.18584	0.811000	0.45836	-0.893000	0.04127	-0.543000	0.06240	0.528000	0.53228	TAC		0.313	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		G	433428	A	G	433428	2	3	24	1	0	0	0	0	0	0	0	1	3351	378	14	3		3	CHL1	3	433428	Silent	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10		433428	197589002	21	1679											
CNTN6	27255	hgsc.bcm.edu	37	3	1424739	1424739	+	Silent	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr3:1424739G>A	ENST00000446702.2	+	18	2907	c.2280G>A	c.(2278-2280)agG>agA	p.R760R	CNTN6_ENST00000539053.1_Silent_p.R688R|CNTN6_ENST00000350110.2_Silent_p.R760R			Q9UQ52	CNTN6_HUMAN	contactin 6	760	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R760S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AATCATCAAGGTTTGTCTACA	0.458																																																1	Substitution - Missense(1)	lung(1)											167	153	158					3																	1424739		2203	4300	6503	SO:0001819	synonymous_variant	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2280G>A	chr3.hg19:g.1424739G>A			Q2KHM2	Silent	SNP	ENST00000446702.2	hg19	CCDS2557.1																																																																																				0.458	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		A	1424739	G	A	1424739	2	1	24	1	0	0	0	0	0	0	0	1	3647	1252	44	2		2	CNTN6	3	1424739	Silent	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	991311	1424739	196597691	22	1680											
CXCR6	10663	hgsc.bcm.edu	37	3	45988986	45988986	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr3:45988986G>A	ENST00000458629.1	+	1	2476	c.1013G>A	c.(1012-1014)aGc>aAc	p.S338N	FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000438735.1_Missense_Mutation_p.S338N|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.S338N|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.S338N			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	338					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGGCCACCAGCATGTTCCAG	0.498																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)											0													72	69	70					3																	45988986		2203	4300	6503	SO:0001583	missense	10663			AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.1013G>A	chr3.hg19:g.45988986G>A	ENSP00000395704:p.Ser338Asn		O00575|Q9HCA5	Missense_Mutation	SNP	ENST00000458629.1	hg19	CCDS2735.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580107	0.46006	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.58	0.378	0.16204	.	0.374134	0.28940	N	0.013651	T	0.57184	0.2036	M	0.62723	1.935	0.30459	N	0.774467	B	0.10296	0.003	B	0.09377	0.004	T	0.55205	-0.8177	10	0.66056	D	0.02	.	6.2004	0.20573	0.275:0.3366:0.3884:0.0	.	338	O00574	CXCR6_HUMAN	N	338	ENSP00000396218:S338N;ENSP00000304414:S338N;ENSP00000395704:S338N;ENSP00000396886:S338N	ENSP00000304414:S338N	S	+	2	0	CXCR6	45963990	0.980000	0.34600	0.998000	0.56505	0.982000	0.71751	0.153000	0.16323	0.040000	0.15660	0.561000	0.74099	AGC		0.498	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			A	45988986	G	A	45988986	3	1	24	1	0	0	0	0	1	0	0	0	4097	971	34	2	1015	2	CXCR6	3	45988986	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	44564247	45988986	152033444	23	1681											
PHF7	51533	hgsc.bcm.edu	37	3	52456291	52456291	+	Missense_Mutation	SNP	A	A	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr3:52456291A>G	ENST00000327906.3	+	9	1394	c.734A>G	c.(733-735)tAt>tGt	p.Y245C	PHF7_ENST00000347025.2_Intron	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	245						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TATCAGCGCTATCAGCACTGT	0.498																																																0													98	94	95					3																	52456291		2203	4300	6503	SO:0001583	missense	51533			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.734A>G	chr3.hg19:g.52456291A>G	ENSP00000333024:p.Tyr245Cys		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	hg19	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.70|19.70	3.876288|3.876288	0.72180|0.72180	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000461861|ENST00000478707;ENST00000327906;ENST00000394916	.|T;T	.|0.09163	.|3.01;3.01	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.120863	.|0.64402	.|D	.|0.000016	T|T	0.24470|0.24470	0.0593|0.0593	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|P	.|0.57371	.|0.819	T|T	0.00888|0.00888	-1.1526|-1.1526	5|10	.|0.34782	.|T	.|0.22	-0.6876|-0.6876	12.4509|12.4509	0.55677|0.55677	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|245	.|Q9BWX1	.|PHF7_HUMAN	V|C	205|245;245;154	.|ENSP00000419316:Y245C;ENSP00000333024:Y245C	.|ENSP00000333024:Y245C	I|Y	+|+	1|2	0|0	PHF7|PHF7	52431331|52431331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.358000|5.358000	0.66064|0.66064	2.196000|2.196000	0.70406|0.70406	0.533000|0.533000	0.62120|0.62120	ATC|TAT		0.498	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		G	52456291	A	G	52456291	3	3	24	1	0	0	0	0	1	0	0	0	11841	449	16	3	764	3	PHF7	3	52456291	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	6467305	52456291	145566139	24	1682											
ITIH3	3699	hgsc.bcm.edu	37	3	52835082	52835082	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr3:52835082delT	ENST00000449956.2	+	11	1309	c.1303delT	c.(1303-1305)ttcfs	p.F435fs	ITIH3_ENST00000416872.2_Frame_Shift_Del_p.F435fs	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	435	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAATTATAACTTCCTGGAGAA	0.502																																																0													102	105	104					3																	52835082		1922	4124	6046	SO:0001589	frameshift_variant	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1303delT	chr3.hg19:g.52835082delT	ENSP00000415769:p.Phe435fs		Q3B7H5|Q53F06|Q6LAM2|Q99085	Frame_Shift_Del	DEL	ENST00000449956.2	hg19	CCDS46845.1																																																																																				0.502	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		-	52835082	T	-	52835082	7	5	24	1	0	1	0	1	0	0	0	0	7907	1609	56	0	1345	0	ITIH3	3	52835082	Frame_Shift_Del	DEL	T	TCGA-4A-A93W-01A-11D-A36X-10	378791	52835082	145187348	25	1683											
ABI3BP	25890	hgsc.bcm.edu	37	3	100565235	100565235	+	Silent	SNP	T	T	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr3:100565235T>C	ENST00000284322.5	-	18	1687	c.1578A>G	c.(1576-1578)gaA>gaG	p.E526E	ABI3BP_ENST00000383691.4_5'UTR|ABI3BP_ENST00000495063.1_Silent_p.E575E|ABI3BP_ENST00000471714.1_Silent_p.E575E	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	526	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTGTGTCACTTCTGGGCTGA	0.333																																																0													74	69	71					3																	100565235		1807	4064	5871	SO:0001819	synonymous_variant	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1578A>G	chr3.hg19:g.100565235T>C			B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	hg19	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.023|7.023	0.559028|0.559028	0.13436|0.13436	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000528490;ENST00000533855|ENST00000466947	.|.	.|.	.|.	5.58|5.58	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.18509|0.18509	0.0444|0.0444	.|.	.|.	.|.	0.19300|0.19300	N|N	0.999973|0.999973	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23797|0.23797	-1.0178|-1.0178	4|4	.|.	.|.	.|.	-1.12|-1.12	1.3054|1.3054	0.02087|0.02087	0.2159:0.1298:0.3307:0.3236|0.2159:0.1298:0.3307:0.3236	.|.	.|.	.|.	.|.	R|G	13;43;204|14	.|.	.|.	K|S	-|-	2|1	0|0	ABI3BP|ABI3BP	102047925|102047925	0.001000|0.001000	0.12720|0.12720	0.098000|0.098000	0.21074|0.21074	0.996000|0.996000	0.88848|0.88848	0.181000|0.181000	0.16880|0.16880	-0.457000|-0.457000	0.07033|0.07033	0.477000|0.477000	0.44152|0.44152	AAG|AGT		0.333	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			C	100565235	T	C	100565235	2	2	24	1	0	0	0	0	0	0	0	1	91	1606	56	3		3	ABI3BP	3	100565235	Silent	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10	47730153	100565235	97457195	26	1684	18	2									
ABI3BP	25890	hgsc.bcm.edu	37	3	100565237	100565237	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr3:100565237delC	ENST00000284322.5	-	18	1685	c.1576delG	c.(1576-1578)gaafs	p.E526fs	ABI3BP_ENST00000383691.4_5'UTR|ABI3BP_ENST00000495063.1_Frame_Shift_Del_p.E575fs|ABI3BP_ENST00000471714.1_Frame_Shift_Del_p.E575fs	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	526	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTGTCACTTCTGGGCTGAGA	0.333																																																0													74	69	71					3																	100565237		1806	4066	5872	SO:0001589	frameshift_variant	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1576delG	chr3.hg19:g.100565237delC	ENSP00000284322:p.Glu526fs		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Frame_Shift_Del	DEL	ENST00000284322.5	hg19	CCDS46880.1																																																																																				0.333	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			-	100565237	C	-	100565237	7	5	24	1	0	1	0	1	0	0	0	0	91	922	32	0	1723	0	ABI3BP	3	100565237	Frame_Shift_Del	DEL	C	TCGA-4A-A93W-01A-11D-A36X-10	2	100565237	97457193	27	1685	18	2									
PLOD2	5352	hgsc.bcm.edu	37	3	145806425	145806425	+	Nonsense_Mutation	SNP	A	A	T	rs367818257		TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr3:145806425A>T	ENST00000360060.3	-	9	1130	c.953T>A	c.(952-954)tTg>tAg	p.L318*	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Nonsense_Mutation_p.L318*|PLOD2_ENST00000461497.1_5'Flank|PLOD2_ENST00000494950.1_Nonsense_Mutation_p.L263*	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	318					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CAGTGTCAACAATATGTCCAG	0.313																																																0													84	79	81					3																	145806425		2202	4298	6500	SO:0001587	stop_gained	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.953T>A	chr3.hg19:g.145806425A>T	ENSP00000353170:p.Leu318*		B3KWS3|Q59ED2|Q8N170	Nonsense_Mutation	SNP	ENST00000360060.3	hg19	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	A	37	6.340514	0.97489	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	.	.	.	5.33	5.33	0.75918	.	0.069303	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.431	15.3138	0.74056	1.0:0.0:0.0:0.0	.	.	.	.	X	318;318;263	.	ENSP00000282903:L318X	L	-	2	0	PLOD2	147289115	0.998000	0.40836	0.669000	0.29828	0.277000	0.26821	8.938000	0.92943	2.016000	0.59253	0.528000	0.53228	TTG		0.313	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		T	145806425	A	T	145806425	4	4	24	1	0	0	0	0	0	1	0	0	12104	131	5	5	1371	5	PLOD2	3	145806425	Nonsense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	45241188	145806425	52216005	28	1686											
PRKCI	5584	hgsc.bcm.edu	37	3	170016826	170016826	+	Missense_Mutation	SNP	C	C	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr3:170016826C>A	ENST00000295797.4	+	17	1936	c.1631C>A	c.(1630-1632)tCt>tAt	p.S544Y		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	544	AGC-kinase C-terminal.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CCAAATATTTCTGGGGAATTT	0.388																																																0													88	87	88					3																	170016826		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1631C>A	chr3.hg19:g.170016826C>A	ENSP00000295797:p.Ser544Tyr		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	hg19	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739807	0.89573	.	.	ENSG00000163558	ENST00000295797	T	0.62639	0.01	5.22	5.22	0.72569	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.059408	0.64402	D	0.000001	T	0.67211	0.2869	L	0.52126	1.63	0.80722	D	1	D	0.57257	0.979	P	0.50860	0.652	T	0.66052	-0.6019	9	.	.	.	.	19.1471	0.93473	0.0:1.0:0.0:0.0	.	544	P41743	KPCI_HUMAN	Y	544	ENSP00000295797:S544Y	.	S	+	2	0	PRKCI	171499520	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.456000	0.80751	2.578000	0.87016	0.650000	0.86243	TCT		0.388	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		A	170016826	C	A	170016826	3	1	24	1	0	0	0	0	1	0	0	0	12519	913	32	4	1697	4	PRKCI	3	170016826	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	24210401	170016826	28005604	29	1687											
PEX5L	51555	hgsc.bcm.edu	37	3	179615950	179615950	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr3:179615950delG	ENST00000467460.1	-	3	508	c.178delC	c.(178-180)ctcfs	p.L61fs	PEX5L_ENST00000464614.1_Frame_Shift_Del_p.L18fs|PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000465751.1_Frame_Shift_Del_p.L37fs|PEX5L_ENST00000263962.8_Frame_Shift_Del_p.L59fs|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000392649.3_Frame_Shift_Del_p.L18fs|PEX5L_ENST00000476138.1_Frame_Shift_Del_p.L18fs|PEX5L_ENST00000485199.1_Intron|PEX5L-AS2_ENST00000462801.1_RNA	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	61					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATAGTAAGGAGGGGCTTTTCT	0.438																																																0													111	105	107					3																	179615950		2203	4300	6503	SO:0001589	frameshift_variant	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.178delC	chr3.hg19:g.179615950delG	ENSP00000419975:p.Leu61fs		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Frame_Shift_Del	DEL	ENST00000467460.1	hg19	CCDS3236.1																																																																																				0.438	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		-	179615950	G	-	179615950	7	5	24	1	0	1	0	1	0	0	0	0	11751	1000	35	0	1754	0	PEX5L	3	179615950	Frame_Shift_Del	DEL	G	TCGA-4A-A93W-01A-11D-A36X-10	9599124	179615950	18406480	30	1688											
C4orf46	201725	hgsc.bcm.edu	37	4	159592804	159592804	+	Silent	SNP	C	C	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr4:159592804C>T	ENST00000379205.4	-	1	394	c.150G>A	c.(148-150)gtG>gtA	p.V50V	C4orf46_ENST00000508836.1_Intron|ETFDH_ENST00000307738.5_5'Flank|ETFDH_ENST00000511912.1_5'Flank|C4orf46_ENST00000508457.1_Silent_p.V50V	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	50										kidney(1)|lung(3)|skin(1)	5						CCAGCTGGTCCACCGTTGGGC	0.692																																																0													35	30	31					4																	159592804		2203	4300	6503	SO:0001819	synonymous_variant	201725				CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"renal cancer differentiation gene 1"						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.150G>A	chr4.hg19:g.159592804C>T			B3KNH7	Silent	SNP	ENST00000379205.4	hg19	CCDS34088.1																																																																																				0.692	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	NM_001008393		T	159592804	C	T	159592804	2	4	24	1	0	0	0	0	0	0	0	1	2276	581	21	2		2	C4orf46	4	159592804	Silent	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10		159592804	31561472	31	1689											
MFAP3L	9848	hgsc.bcm.edu	37	4	170913146	170913146	+	Missense_Mutation	SNP	C	C	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr4:170913146C>T	ENST00000361618.3	-	3	920	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	MFAP3L_ENST00000393704.3_Missense_Mutation_p.A102T|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATGCGCTTGGCGATCTCAAAT	0.512																																																0													135	140	138					4																	170913146		2203	4300	6503	SO:0001583	missense	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.613G>A	chr4.hg19:g.170913146C>T	ENSP00000354583:p.Ala205Thr		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	hg19	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710617	0.89112	.	.	ENSG00000198948	ENST00000393704;ENST00000361618;ENST00000512698	D;D;D	0.98835	-5.17;-1.96;-4.95	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.98887	0.9623	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99391	1.0925	10	0.34782	T	0.22	-32.4843	19.4847	0.95025	0.0:1.0:0.0:0.0	.	205	O75121	MFA3L_HUMAN	T	102;205;102	ENSP00000377307:A102T;ENSP00000354583:A205T;ENSP00000422791:A102T	ENSP00000354583:A205T	A	-	1	0	MFAP3L	171149721	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	7.818000	0.86416	2.602000	0.87976	0.555000	0.69702	GCC		0.512	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		T	170913146	C	T	170913146	3	4	24	1	0	0	0	0	1	0	0	0	9518	768	27	1	620	1	MFAP3L	4	170913146	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	11320342	170913146	20241130	32	1690											
SV2C	22987	hgsc.bcm.edu	37	5	75427885	75427885	+	Missense_Mutation	SNP	G	G	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr5:75427885G>C	ENST00000502798.2	+	2	752	c.310G>C	c.(310-312)Gac>Cac	p.D104H	SV2C_ENST00000322285.7_Missense_Mutation_p.D104H	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	104					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCAAGCGAAGGACAGCATCGT	0.557																																																0													86	90	89					5																	75427885		2109	4241	6350	SO:0001583	missense	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.310G>C	chr5.hg19:g.75427885G>C	ENSP00000423541:p.Asp104His		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	hg19	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767148	0.49574	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.33216	1.42;1.42	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);	0.218772	0.47093	D	0.000256	T	0.37517	0.1006	L	0.51422	1.61	0.80722	D	1	P	0.41393	0.748	B	0.42882	0.401	T	0.06356	-1.0831	10	0.46703	T	0.11	-21.7026	19.9694	0.97278	0.0:0.0:1.0:0.0	.	104	Q496J9	SV2C_HUMAN	H	104	ENSP00000423541:D104H;ENSP00000316983:D104H	ENSP00000316983:D104H	D	+	1	0	SV2C	75463641	1.000000	0.71417	0.790000	0.31976	0.526000	0.34562	6.822000	0.75277	2.719000	0.93026	0.655000	0.94253	GAC		0.557	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			C	75427885	G	C	75427885	3	2	24	1	0	0	0	0	1	0	0	0	15424	1174	41	4	312	4	SV2C	5	75427885	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10		75427885	105487375	33	1691											
MEF2C	4208	hgsc.bcm.edu	37	5	88027620	88027620	+	Missense_Mutation	SNP	A	A	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr5:88027620A>C	ENST00000437473.2	-	7	1153	c.736T>G	c.(736-738)Tta>Gta	p.L246V	MEF2C_ENST00000514015.1_Missense_Mutation_p.L246V|MEF2C_ENST00000539796.1_Missense_Mutation_p.L198V|MEF2C_ENST00000508569.1_Missense_Mutation_p.L246V|MEF2C_ENST00000504921.2_Missense_Mutation_p.L246V|MEF2C_ENST00000510942.1_Missense_Mutation_p.L246V|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000514028.1_Missense_Mutation_p.L246V|MEF2C_ENST00000340208.5_Missense_Mutation_p.L264V|MEF2C_ENST00000424173.2_Missense_Mutation_p.L244V|MEF2C_ENST00000506554.1_Missense_Mutation_p.L246V	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	246					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTCATTCCTAAATTCATTGGG	0.428										HNSCC(66;0.2)																																						0													99	97	98					5																	88027620		1851	4087	5938	SO:0001583	missense	4208			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.736T>G	chr5.hg19:g.88027620A>C	ENSP00000396219:p.Leu246Val		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	hg19	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.856714	0.51376	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	6.17	1.18	0.20946	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	L	0.35644	1.08	0.52501	D	0.999959	B;P;P;P	0.45126	0.215;0.851;0.552;0.603	B;P;B;B	0.44447	0.071;0.45;0.257;0.421	T	0.02326	-1.1176	10	0.52906	T	0.07	-3.6707	9.8788	0.41220	0.5416:0.0:0.4584:0.0	.	244;264;246;246	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	V	264;244;246;246;246;246;246;246;246;198	ENSP00000340874:L264V;ENSP00000389610:L244V;ENSP00000421925:L246V;ENSP00000426665:L246V;ENSP00000396219:L246V;ENSP00000422390:L246V;ENSP00000425636:L246V;ENSP00000423597:L246V;ENSP00000424606:L246V;ENSP00000441153:L198V	ENSP00000340874:L264V	L	-	1	2	MEF2C	88063376	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.696000	0.25541	0.204000	0.20548	0.533000	0.62120	TTA		0.428	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		C	88027620	A	C	88027620	3	2	24	1	0	0	0	0	1	0	0	0	9459	11	1	5	705	5	MEF2C	5	88027620	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	12599735	88027620	92887640	34	1692											
GPR98	84059	hgsc.bcm.edu	37	5	89949370	89949370	+	Missense_Mutation	SNP	G	G	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr5:89949370G>C	ENST00000405460.2	+	20	4075	c.3979G>C	c.(3979-3981)Gct>Cct	p.A1327P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1327					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGAACGGATGCTTTGTACTT	0.448																																																0													127	116	120					5																	89949370		1958	4141	6099	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3979G>C	chr5.hg19:g.89949370G>C	ENSP00000384582:p.Ala1327Pro		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	hg19	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.091508|4.091508	0.76756|0.76756	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.03441|.	3.93|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Concanavalin A-like lectin/glucanase (1);|.	0.147481|.	0.64402|.	D|.	0.000008|.	T|T	0.75170|0.75170	0.3813|0.3813	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D|.	0.63046|.	0.992|.	D|.	0.64410|.	0.925|.	T|T	0.72896|0.72896	-0.4153|-0.4153	10|5	0.51188|.	T|.	0.08|.	.|.	19.4938|19.4938	0.95064|0.95064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1327|.	Q8WXG9|.	GPR98_HUMAN|.	P|S	1327|915	ENSP00000384582:A1327P|.	ENSP00000296619:A1327P|.	A|C	+|+	1|2	0|0	GPR98|GPR98	89985126|89985126	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.952000|0.952000	0.60782|0.60782	6.159000|6.159000	0.71856|0.71856	2.691000|2.691000	0.91804|0.91804	0.650000|0.650000	0.86243|0.86243	GCT|TGC		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	89949370	G	C	89949370	3	2	24	1	0	0	0	0	1	0	0	0	6723	1319	46	4	4057	4	GPR98	5	89949370	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	1921750	89949370	90965890	35	1693											
FGFR4	2264	hgsc.bcm.edu	37	5	176518791	176518791	+	Missense_Mutation	SNP	T	T	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr5:176518791T>C	ENST00000292408.4	+	6	954	c.709T>C	c.(709-711)Tac>Cac	p.Y237H	FGFR4_ENST00000393637.1_Missense_Mutation_p.Y237H|FGFR4_ENST00000393648.2_Missense_Mutation_p.Y237H|FGFR4_ENST00000292410.3_Missense_Mutation_p.Y237H|FGFR4_ENST00000502906.1_Missense_Mutation_p.Y237H	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	237	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CCGCTATAACTACCTGCTAGA	0.617										TSP Lung(9;0.080)																																						0													90	81	84					5																	176518791		2203	4300	6503	SO:0001583	missense	2264			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.709T>C	chr5.hg19:g.176518791T>C	ENSP00000292408:p.Tyr237His		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	hg19	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900458	0.52227	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.13	4.13	0.48395	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.49440	0.1557	L	0.55103	1.725	0.53005	D	0.999962	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.997;0.999	T	0.52756	-0.8533	10	0.87932	D	0	.	13.2525	0.60060	0.0:0.0:0.0:1.0	.	237;237;237;237	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	H	237;237;237;237;237;349	ENSP00000292408:Y237H;ENSP00000377259:Y237H;ENSP00000424960:Y237H;ENSP00000292410:Y237H;ENSP00000377254:Y237H	ENSP00000292408:Y237H	Y	+	1	0	FGFR4	176451397	1.000000	0.71417	0.994000	0.49952	0.090000	0.18270	7.825000	0.86693	1.867000	0.54127	0.402000	0.26972	TAC		0.617	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			C	176518791	T	C	176518791	3	2	24	1	0	0	0	0	1	0	0	0	5870	1522	53	3	727	3	FGFR4	5	176518791	Missense_Mutation	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10	86569421	176518791	4396469	36	1694											
ZKSCAN4	387032	hgsc.bcm.edu	37	6	28213691	28213692	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr6:28213691_28213692delGC	ENST00000377294.2	-	5	1083_1084	c.840_841delGC	c.(838-843)gagcatfs	p.H281fs	ZKSCAN4_ENST00000423974.2_Frame_Shift_Del_p.H126fs	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	281	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATCTTCCCATGCTCCTTTTCTG	0.49																																																0																																										SO:0001589	frameshift_variant	387032			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.840_841delGC	chr6.hg19:g.28213691_28213692delGC	ENSP00000366509:p.His281fs		B2RE32|Q5U7L4	Frame_Shift_Del	DEL	ENST00000377294.2	hg19	CCDS4647.1																																																																																				0.49	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		-	28213692	GC	-	28213691	7	5	24	1	0	1	0	1	0	0	0	0	17694	1319	46	0	800	0	ZKSCAN4	6	28213691	Frame_Shift_Del	DEL	GC	TCGA-4A-A93W-01A-11D-A36X-10		28213691	142901376	37	1695											
SLC22A1	6580	hgsc.bcm.edu	37	6	160560884	160560884	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr6:160560884A>T	ENST00000366963.4	+	7	1408	c.1261A>T	c.(1261-1263)Att>Ttt	p.I421F	SLC22A1_ENST00000324965.4_Missense_Mutation_p.I421F|SLC22A1_ENST00000457470.2_Missense_Mutation_p.I421F	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	421					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CCTCGTCATGATTTTTATCTC	0.527																																																0													62	58	59					6																	160560884		2203	4299	6502	SO:0001583	missense	6580			U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"Solute carriers"	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1261A>T	chr6.hg19:g.160560884A>T	ENSP00000355930:p.Ile421Phe		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	ENST00000366963.4	hg19	CCDS5274.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634717	0.47049	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.73469	-0.75;0.32;0.32	5.08	-10.2	0.00374	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.782081	0.11578	N	0.550023	T	0.46756	0.1409	M	0.66439	2.03	0.09310	N	0.999999	P;B	0.39940	0.696;0.302	B;B	0.38921	0.254;0.285	T	0.47509	-0.9112	10	0.29301	T	0.29	.	12.514	0.56021	0.1707:0.2871:0.5423:0.0	.	421;421	O15245-2;O15245	.;S22A1_HUMAN	F	421	ENSP00000355930:I421F;ENSP00000318103:I421F;ENSP00000409557:I421F	ENSP00000318103:I421F	I	+	1	0	SLC22A1	160480874	0.104000	0.21937	0.003000	0.11579	0.012000	0.07955	0.127000	0.15790	-2.186000	0.00760	-0.441000	0.05720	ATT		0.527	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			T	160560884	A	T	160560884	3	4	24	1	0	0	0	0	1	0	0	0	14446	333	12	5	1287	5	SLC22A1	6	160560884	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	132347193	160560884	10554183	38	1696											
FAM20C	56975	hgsc.bcm.edu	37	7	208933	208933	+	Missense_Mutation	SNP	A	A	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr7:208933A>G	ENST00000313766.5	+	3	1051	c.820A>G	c.(820-822)Atg>Gtg	p.M274V		NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	274				MTFQNYGQALFKPMK -> FLSDKPFLFLSCFLR (in Ref. 6; CAB99089). {ECO:0000305}.	dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		GAAGCTCATCATGACCTTCCA	0.612																																																0													52	58	56					7																	208933		2076	4193	6269	SO:0001583	missense	56975			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"dentin matrix protein 4"	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.820A>G	chr7.hg19:g.208933A>G	ENSP00000322323:p.Met274Val		A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Missense_Mutation	SNP	ENST00000313766.5	hg19	CCDS47522.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.391528	0.42410	.	.	ENSG00000177706	ENST00000313766	T	0.75938	-0.98	5.23	4.06	0.47325	.	0.000000	0.64402	D	0.000003	T	0.66208	0.2766	L	0.54965	1.715	0.47584	D	0.999468	B	0.22983	0.078	B	0.20577	0.03	T	0.61959	-0.6955	10	0.51188	T	0.08	.	6.9119	0.24340	0.6948:0.1559:0.0:0.1493	.	274	Q8IXL6	DMP4_HUMAN	V	274	ENSP00000322323:M274V	ENSP00000322323:M274V	M	+	1	0	FAM20C	304016	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	5.854000	0.69503	0.806000	0.34183	0.533000	0.62120	ATG		0.612	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322476.2	NM_020223		G	208933	A	G	208933	3	3	24	1	0	0	0	0	1	0	0	0	5541	217	8	3	830	3	FAM20C	7	208933	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10		208933	158929730	39	1697											
TNS3	64759	hgsc.bcm.edu	37	7	47451362	47451362	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr7:47451362A>T	ENST00000398879.1	-	13	1052	c.686T>A	c.(685-687)gTc>gAc	p.V229D	TNS3_ENST00000442536.2_Missense_Mutation_p.V229D|TNS3_ENST00000355730.3_Missense_Mutation_p.V229D|TNS3_ENST00000311160.9_Missense_Mutation_p.V229D|TNS3_ENST00000458317.2_Missense_Mutation_p.V229D			Q68CZ2	TENS3_HUMAN	tensin 3	229	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGGCTCGATGACGATGCAGAT	0.522																																																0													67	74	72					7																	47451362		2036	4178	6214	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.686T>A	chr7.hg19:g.47451362A>T	ENSP00000381854:p.Val229Asp		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	hg19	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	a	8.595	0.885502	0.17540	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317	D;D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.17	0.24	0.15489	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.537282	0.20705	N	0.087184	T	0.77343	0.4116	L	0.29908	0.895	0.19300	N	0.999977	B;B	0.21071	0.043;0.051	B;B	0.24006	0.049;0.05	T	0.61594	-0.7031	10	0.29301	T	0.29	-17.3607	9.5619	0.39373	0.3035:0.0:0.6965:0.0	.	229;229	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	D	229;339;229;229;332;318;229;229	ENSP00000312143:V229D;ENSP00000381854:V229D;ENSP00000347968:V229D;ENSP00000414358:V332D;ENSP00000396914:V318D;ENSP00000389285:V229D;ENSP00000388318:V229D	ENSP00000312143:V229D	V	-	2	0	TNS3	47417887	0.924000	0.31332	0.001000	0.08648	0.372000	0.29890	1.604000	0.36804	-0.257000	0.09459	-1.216000	0.01612	GTC		0.522	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		T	47451362	A	T	47451362	3	4	24	1	0	0	0	0	1	0	0	0	16349	275	10	5	3727	5	TNS3	7	47451362	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	47242429	47451362	111687301	40	1698											
PTCD1	26024	hgsc.bcm.edu	37	7	99023210	99023210	+	Silent	SNP	T	T	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr7:99023210T>C	ENST00000292478.4	-	6	1195	c.945A>G	c.(943-945)ctA>ctG	p.L315L	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.L364L|PTCD1_ENST00000555673.1_Silent_p.L364L	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	315					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCGGCTGTAGCCCTAGAC	0.647																																																0													11	11	11					7																	99023210		2179	4271	6450	SO:0001819	synonymous_variant	100526740			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.945A>G	chr7.hg19:g.99023210T>C			Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	hg19	CCDS34691.1																																																																																				0.647	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		C	99023210	T	C	99023210	2	2	24	1	0	0	0	0	0	0	0	1	12732	1625	57	3		3	PTCD1	7	99023210	Silent	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10	51571848	99023210	60115453	41	1699											
MET	4233	hgsc.bcm.edu	37	7	116417457	116417457	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr7:116417457G>A	ENST00000318493.6	+	16	3515	c.3328G>A	c.(3328-3330)Gta>Ata	p.V1110I	MET_ENST00000539704.1_5'UTR|MET_ENST00000397752.3_Missense_Mutation_p.V1092I			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTTGGTTGTGTATATCATGG	0.338			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0			GRCh37	CM990852	MET	M							191	176	180					7																	116417457		1827	4084	5911	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3328G>A	chr7.hg19:g.116417457G>A	ENSP00000317272:p.Val1110Ile		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834124	0.91036	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.64991	-0.13;-0.13	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	M	0.80422	2.495	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.85130	0.997;0.99	D	0.83726	0.0195	10	0.87932	D	0	.	19.0107	0.92871	0.0:0.0:1.0:0.0	.	1110;1092	P08581-2;P08581	.;MET_HUMAN	I	1092;1110	ENSP00000380860:V1092I;ENSP00000317272:V1110I	ENSP00000317272:V1110I	V	+	1	0	MET	116204693	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.813000	0.99286	2.560000	0.86352	0.563000	0.77884	GTA		0.338	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116417457	G	A	116417457	3	1	24	1	0	0	0	0	1	0	0	0	9487	1377	48	2	3386	2	MET	7	116417457	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	17394247	116417457	42721206	42	1700											
RNF32	140545	hgsc.bcm.edu	37	7	156451243	156451243	+	Frame_Shift_Del	DEL	A	A	-			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr7:156451243delA	ENST00000405335.1	+	8	1072	c.663delA	c.(661-663)agafs	p.R221fs	AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000432459.2_Frame_Shift_Del_p.R221fs|RNF32_ENST00000392743.2_Frame_Shift_Del_p.R221fs|RNF32_ENST00000343665.4_Frame_Shift_Del_p.R197fs|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000311822.8_Frame_Shift_Del_p.R221fs|RNF32_ENST00000392741.2_Frame_Shift_Del_p.R221fs|RNF32_ENST00000317955.5_Frame_Shift_Del_p.R221fs			Q9H0A6	RNF32_HUMAN	ring finger protein 32	221						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCAAGTTAAGAAAAAAATTCT	0.423																																																0													76	82	80					7																	156451243		2203	4300	6503	SO:0001589	frameshift_variant	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.663delA	chr7.hg19:g.156451243delA	ENSP00000385285:p.Arg221fs		Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Frame_Shift_Del	DEL	ENST00000405335.1	hg19	CCDS5944.1																																																																																				0.423	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		-	156451243	A	-	156451243	7	5	24	1	0	1	0	1	0	0	0	0	13494	243	9	0	685	0	RNF32	7	156451243	Frame_Shift_Del	DEL	A	TCGA-4A-A93W-01A-11D-A36X-10	40033786	156451243	2687420	43	1701											
BMP1	649	hgsc.bcm.edu	37	8	22069171	22069171	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr8:22069171T>G	ENST00000306385.5	+	20	3561	c.2891T>G	c.(2890-2892)aTc>aGc	p.I964S	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	964	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GATGACACCATCACCAAAAAA	0.567																																																0													142	119	127					8																	22069171		2203	4300	6503	SO:0001583	missense	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2891T>G	chr8.hg19:g.22069171T>G	ENSP00000305714:p.Ile964Ser		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	hg19	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970260	0.74246	.	.	ENSG00000168487	ENST00000306385	T	0.34072	1.38	4.7	4.7	0.59300	CUB (5);	0.000000	0.37012	U	0.002298	T	0.48822	0.1521	M	0.74881	2.28	0.80722	D	1	P	0.39748	0.686	P	0.48334	0.574	T	0.48603	-0.9021	10	0.38643	T	0.18	.	13.295	0.60292	0.0:0.0:0.0:1.0	.	964	P13497	BMP1_HUMAN	S	964	ENSP00000305714:I964S	ENSP00000305714:I964S	I	+	2	0	BMP1	22125116	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.848000	0.86902	1.977000	0.57605	0.533000	0.62120	ATC		0.567	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		G	22069171	T	G	22069171	3	3	24	1	0	0	0	0	1	0	0	0	1456	1435	50	5	3059	5	BMP1	8	22069171	Missense_Mutation	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10		22069171	124294851	44	1702											
LYN	4067	hgsc.bcm.edu	37	8	56922657	56922657	+	Missense_Mutation	SNP	G	G	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr8:56922657G>C	ENST00000519728.1	+	13	1823	c.1527G>C	c.(1525-1527)caG>caC	p.Q509H	LYN_ENST00000520220.2_Missense_Mutation_p.Q488H	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	509					B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GGCAATACCAGCAGCAGCCTT	0.483																																																0													72	69	70					8																	56922657		2203	4300	6503	SO:0001583	missense	4067			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1527G>C	chr8.hg19:g.56922657G>C	ENSP00000428924:p.Gln509His		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	hg19	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963785	0.74131	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.75050	-0.86;-0.9	5.95	2.85	0.33270	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.984	T	0.77923	-0.2406	10	0.59425	D	0.04	.	7.0536	0.25087	0.4347:0.0:0.5652:0.0	.	579;509	Q6NUK7;P07948	.;LYN_HUMAN	H	509;488	ENSP00000428924:Q509H;ENSP00000428424:Q488H	ENSP00000428924:Q509H	Q	+	3	2	LYN	57085211	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.705000	0.37867	0.863000	0.35553	0.655000	0.94253	CAG		0.483	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		C	56922657	G	C	56922657	3	2	24	1	0	0	0	0	1	0	0	0	9109	962	34	4	1573	4	LYN	8	56922657	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	34853486	56922657	89441365	45	1703	19	2									
LYN	4067	hgsc.bcm.edu	37	8	56922659	56922659	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr8:56922659A>T	ENST00000519728.1	+	13	1825	c.1529A>T	c.(1528-1530)cAg>cTg	p.Q510L	LYN_ENST00000520220.2_Missense_Mutation_p.Q489L	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	510					B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CAATACCAGCAGCAGCCTTAG	0.483																																																0													70	68	68					8																	56922659		2203	4300	6503	SO:0001583	missense	4067			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1529A>T	chr8.hg19:g.56922659A>T	ENSP00000428924:p.Gln510Leu		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	hg19	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.882332	0.51908	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.74315	-0.78;-0.83	5.95	5.95	0.96441	Protein kinase-like domain (1);	0.050322	0.85682	D	0.000000	T	0.50171	0.1600	N	0.01352	-0.895	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.12837	0.008;0.004	T	0.50642	-0.8804	10	0.37606	T	0.19	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	580;510	Q6NUK7;P07948	.;LYN_HUMAN	L	510;489	ENSP00000428924:Q510L;ENSP00000428424:Q489L	ENSP00000428924:Q510L	Q	+	2	0	LYN	57085213	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.107000	0.71517	2.279000	0.76181	0.533000	0.62120	CAG		0.483	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		T	56922659	A	T	56922659	3	4	24	1	0	0	0	0	1	0	0	0	9109	188	7	5	1575	5	LYN	8	56922659	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	2	56922659	89441363	46	1704	19	2									
DECR1	1666	hgsc.bcm.edu	37	8	91055027	91055027	+	Splice_Site	SNP	A	A	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr8:91055027A>C	ENST00000220764.2	+	7	825	c.737A>C	c.(736-738)aAa>aCa	p.K246T	DECR1_ENST00000522161.1_Splice_Site_p.K237T	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	246					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.K246T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			ATAAAAACCAAAGTAAGTTGT	0.338																																																1	Substitution - Missense(1)	large_intestine(1)											159	152	155					8																	91055027		2203	4300	6503	SO:0001630	splice_region_variant	1666			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.738+1A>C	chr8.hg19:g.91055027A>C			B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	hg19	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763756	0.49574	.	.	ENSG00000104325	ENST00000220764;ENST00000522161	T;T	0.22134	1.97;1.97	5.24	5.24	0.73138	NAD(P)-binding domain (1);	0.044737	0.85682	D	0.000000	T	0.32941	0.0846	N	0.26042	0.785	0.80722	D	1	D;B	0.76494	0.999;0.06	D;B	0.76575	0.988;0.224	T	0.04723	-1.0931	10	0.35671	T	0.21	.	15.4185	0.74991	1.0:0.0:0.0:0.0	.	237;246	B7Z6B8;Q16698	.;DECR_HUMAN	T	246;237	ENSP00000220764:K246T;ENSP00000429779:K237T	ENSP00000220764:K246T	K	+	2	0	DECR1	91124203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.733000	0.91539	2.109000	0.64355	0.528000	0.53228	AAA		0.338	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1		Missense_Mutation	C	91055027	A	C	91055027	5	2	24	1	0	0	0	0	0	0	1	0	4384	28	1	5	763	5	DECR1	8	91055027	Splice_Site	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	34132368	91055027	55308995	47	1705											
RBM12B	389677	hgsc.bcm.edu	37	8	94748429	94748429	+	Missense_Mutation	SNP	C	C	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr8:94748429C>G	ENST00000399300.2	-	3	423	c.210G>C	c.(208-210)gaG>gaC	p.E70D	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.E70D|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	70							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TAAGAAAGAGCTCTACAGATG	0.443																																																0													180	171	174					8																	94748429		1831	4091	5922	SO:0001583	missense	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.210G>C	chr8.hg19:g.94748429C>G	ENSP00000382239:p.Glu70Asp		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	hg19	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574938	0.45902	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	T;T;T;T;T;T	0.34667	2.57;2.6;1.8;1.84;1.96;1.35	5.71	3.92	0.45320	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000018	T	0.48150	0.1484	M	0.63428	1.95	0.31929	N	0.612458	P	0.38223	0.623	P	0.49953	0.627	T	0.59139	-0.7510	10	0.56958	D	0.05	-22.8351	11.8401	0.52348	0.0:0.8573:0.0:0.1427	.	70	Q8IXT5	RB12B_HUMAN	D	70	ENSP00000382239:E70D;ENSP00000427729:E70D;ENSP00000430474:E70D;ENSP00000428269:E70D;ENSP00000429807:E70D;ENSP00000430466:E70D	ENSP00000382239:E70D	E	-	3	2	RBM12B	94817605	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.543000	0.23237	0.764000	0.33197	0.655000	0.94253	GAG		0.443	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		G	94748429	C	G	94748429	3	3	24	1	0	0	0	0	1	0	0	0	13120	796	28	4	2799	4	RBM12B	8	94748429	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	3693402	94748429	51615593	48	1706											
RC3H2	54542	hgsc.bcm.edu	37	9	125612011	125612011	+	Silent	SNP	G	G	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr9:125612011G>C	ENST00000373670.1	-	20	4071	c.3471C>G	c.(3469-3471)acC>acG	p.T1157T	RC3H2_ENST00000357244.2_Silent_p.T1157T			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1157					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGACAGATGTGGTGATGGGGA	0.423																																																0													79	75	76					9																	125612011		1888	4136	6024	SO:0001819	synonymous_variant	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3471C>G	chr9.hg19:g.125612011G>C			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	ENST00000373670.1	hg19	CCDS43874.1																																																																																				0.423	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		C	125612011	G	C	125612011	2	2	24	1	0	0	0	0	0	0	0	1	13173	1335	47	4		4	RC3H2	9	125612011	Silent	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10		125612011	15601420	49	1707											
ANXA7	310	hgsc.bcm.edu	37	10	75156296	75156296	+	Missense_Mutation	SNP	T	T	G	rs534428824	byFrequency	TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr10:75156296T>G	ENST00000372921.5	-	5	472	c.416A>C	c.(415-417)cAa>cCa	p.Q139P	ANXA7_ENST00000535178.1_Missense_Mutation_p.Q9P|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	139	Repeat-rich region.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GTAAGTAGGTTGTCCTCCAGG	0.393																																																0													73	68	70					10																	75156296		2203	4300	6503	SO:0001583	missense	310			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.416A>C	chr10.hg19:g.75156296T>G	ENSP00000362012:p.Gln139Pro		Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	hg19	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.645066	0.29246	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178;ENST00000394847	T;T;T	0.04706	3.57;4.44;3.57	5.45	4.29	0.51040	.	1.042900	0.07566	N	0.917788	T	0.06735	0.0172	L	0.29908	0.895	0.35337	D	0.786159	B;P;P;P;B	0.49090	0.003;0.867;0.778;0.919;0.003	B;B;B;P;B	0.47044	0.001;0.334;0.184;0.535;0.006	T	0.41413	-0.9510	10	0.21540	T	0.41	.	9.6326	0.39789	0.0:0.0:0.1757:0.8243	.	139;139;66;139;139	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	P	139;139;9;139	ENSP00000362012:Q139P;ENSP00000362010:Q139P;ENSP00000442864:Q9P	ENSP00000362010:Q139P	Q	-	2	0	ANXA7	74826302	0.985000	0.35326	0.960000	0.40013	0.982000	0.71751	2.182000	0.42556	0.967000	0.38186	0.528000	0.53228	CAA		0.393	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		G	75156296	T	G	75156296	3	3	24	1	0	0	0	0	1	0	0	0	723	1812	63	5	1090	5	ANXA7	10	75156296	Missense_Mutation	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10		75156296	60378451	50	1708											
PSMD13	5719	hgsc.bcm.edu	37	11	244701	244701	+	Missense_Mutation	SNP	C	C	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr11:244701C>G	ENST00000532097.1	+	6	840	c.336C>G	c.(334-336)atC>atG	p.I112M	PSMD13_ENST00000431206.2_Missense_Mutation_p.I114M|PSMD13_ENST00000352303.5_Missense_Mutation_p.I112M	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	112					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)|meiosis I (GO:0007127)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		AGGCAGTGATCCTGTGTAAAA	0.373																																																0													92	95	94					11																	244701		2203	4300	6503	SO:0001583	missense	5719			AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"Proteasome (prosome, macropain) subunits"	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.336C>G	chr11.hg19:g.244701C>G	ENSP00000436186:p.Ile112Met		B3KT15|O75831|Q53XU2|Q9UNV3	Missense_Mutation	SNP	ENST00000532097.1	hg19	CCDS7692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.95|16.95	3.262842|3.262842	0.59431|0.59431	.|.	.|.	ENSG00000185627|ENSG00000185627	ENST00000532097;ENST00000538343;ENST00000431206;ENST00000528906;ENST00000352303|ENST00000526783	T;T;T;T|.	0.20463|.	2.12;2.07;2.1;2.11|.	5.6|5.6	3.74|3.74	0.42951|0.42951	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72771|0.72771	0.3502|0.3502	M|M	0.83483|0.83483	2.645|2.645	0.51233|0.51233	D|D	0.999919|0.999919	D;P;D;D|.	0.76494|.	0.999;0.941;0.963;0.963|.	D;P;P;P|.	0.71870|.	0.975;0.804;0.74;0.74|.	T|T	0.72401|0.72401	-0.4305|-0.4305	10|5	0.48119|.	T|.	0.1|.	.|.	8.8689|8.8689	0.35303|0.35303	0.0:0.7051:0.0:0.2949|0.0:0.7051:0.0:0.2949	.|.	114;47;112;112|.	Q9UNM6-2;B4DJ66;B2RBM7;Q9UNM6|.	.;.;.;PSD13_HUMAN|.	M|C	112;47;114;74;112|23	ENSP00000436186:I112M;ENSP00000396937:I114M;ENSP00000433364:I74M;ENSP00000333811:I112M|.	ENSP00000333811:I112M|.	I|S	+|+	3|2	3|0	PSMD13|PSMD13	234701|234701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.777000|1.777000	0.38604|0.38604	0.852000|0.852000	0.35287|0.35287	-0.253000|-0.253000	0.11424|0.11424	ATC|TCC		0.373	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239286.2	NM_002817		G	244701	C	G	244701	3	3	24	1	0	0	0	0	1	0	0	0	12701	845	30	4	439	4	PSMD13	11	244701	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10		244701	134761815	51	1709											
OR51A7	119687	hgsc.bcm.edu	37	11	4929473	4929473	+	Missense_Mutation	SNP	T	T	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr11:4929473T>A	ENST00000359350.4	+	1	874	c.874T>A	c.(874-876)Tgt>Agt	p.C292S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGTGTACTGTGTAAAGAC	0.418																																																0													133	126	128					11																	4929473		2201	4298	6499	SO:0001583	missense	119687			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.874T>A	chr11.hg19:g.4929473T>A	ENSP00000352305:p.Cys292Ser		Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	hg19	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.092179	0.00364	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.35236	1.32	5.02	5.02	0.67125	.	0.128592	0.36200	N	0.002737	T	0.12944	0.0314	N	0.04018	-0.295	0.26535	N	0.974196	B	0.12630	0.006	B	0.14578	0.011	T	0.33752	-0.9856	10	0.02654	T	1	.	5.9373	0.19173	0.1627:0.0:0.1696:0.6677	.	292	Q8NH64	O51A7_HUMAN	S	292;292;281	ENSP00000352305:C292S	ENSP00000352305:C292S	C	+	1	0	OR51A7	4886049	0.000000	0.05858	0.998000	0.56505	0.134000	0.20937	-1.501000	0.02281	2.098000	0.63641	0.533000	0.62120	TGT		0.418	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		A	4929473	T	A	4929473	3	1	24	1	0	0	0	0	1	0	0	0	11090	1580	55	5	876	5	OR51A7	11	4929473	Missense_Mutation	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10	4684772	4929473	130077043	52	1710											
ELP4	26610	hgsc.bcm.edu	37	11	31531372	31531372	+	Missense_Mutation	SNP	C	C	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr11:31531372C>G	ENST00000350638.5	+	1	76	c.41C>G	c.(40-42)aCt>aGt	p.T14S	IMMP1L_ENST00000526776.1_5'Flank|ELP4_ENST00000395934.2_Missense_Mutation_p.T14S|IMMP1L_ENST00000532287.1_5'Flank|ELP4_ENST00000379163.5_Missense_Mutation_p.T14S|IMMP1L_ENST00000528161.1_5'Flank|IMMP1L_ENST00000533642.1_5'Flank|IMMP1L_ENST00000534812.1_5'Flank|IMMP1L_ENST00000278200.1_5'Flank	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	14					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|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)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GCCGCGAGTACTGGGTCTGCA	0.592																																																0													43	50	47					11																	31531372		2108	4240	6348	SO:0001583	missense	26610			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.41C>G	chr11.hg19:g.31531372C>G	ENSP00000298937:p.Thr14Ser		B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	hg19	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	C	6.234	0.411373	0.11812	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.43294	1.01;0.95;1.52	5.32	-0.0982	0.13629	.	1.001760	0.08046	N	0.995845	T	0.17280	0.0415	N	0.11427	0.14	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.10450	0.001;0.005;0.001	T	0.25152	-1.0140	10	0.06494	T	0.89	-13.6166	2.3958	0.04389	0.1418:0.4226:0.2756:0.16	.	14;14;14	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	S	14	ENSP00000298937:T14S;ENSP00000368461:T14S;ENSP00000379267:T14S	ENSP00000298937:T14S	T	+	2	0	ELP4	31487948	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.092000	0.11129	-0.191000	0.10448	-0.263000	0.10527	ACT		0.592	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		G	31531372	C	G	31531372	3	3	24	1	0	0	0	0	1	0	0	0	5084	565	20	4	43	4	ELP4	11	31531372	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	26601899	31531372	103475144	53	1711											
DAGLA	747	hgsc.bcm.edu	37	11	61507009	61507009	+	Missense_Mutation	SNP	C	C	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr11:61507009C>A	ENST00000257215.5	+	17	1845	c.1729C>A	c.(1729-1731)Ctg>Atg	p.L577M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	577					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTGACCACCCTGGCCAGCAC	0.657																																																0													131	117	122					11																	61507009		2202	4299	6501	SO:0001583	missense	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1729C>A	chr11.hg19:g.61507009C>A	ENSP00000257215:p.Leu577Met		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	hg19	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703596	0.30232	.	.	ENSG00000134780	ENST00000257215	T	0.25414	1.8	4.23	1.89	0.25635	.	0.239340	0.36519	N	0.002560	T	0.13030	0.0316	L	0.27053	0.805	0.29500	N	0.854976	B	0.06786	0.001	B	0.06405	0.002	T	0.07290	-1.0780	10	0.33940	T	0.23	-13.8817	1.9957	0.03455	0.3039:0.3924:0.1987:0.105	.	577	Q9Y4D2	DGLA_HUMAN	M	577	ENSP00000257215:L577M	ENSP00000257215:L577M	L	+	1	2	DAGLA	61263585	0.797000	0.28877	0.985000	0.45067	0.968000	0.65278	1.386000	0.34419	0.875000	0.35847	0.462000	0.41574	CTG		0.657	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		A	61507009	C	A	61507009	3	1	24	1	0	0	0	0	1	0	0	0	4228	680	24	4	1791	4	DAGLA	11	61507009	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	29975637	61507009	73499507	54	1712											
C11orf48	79081	hgsc.bcm.edu	37	11	62432403	62432403	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr11:62432403G>A	ENST00000431002.2	-	3	2392	c.659C>T	c.(658-660)tCg>tTg	p.S220L	C11orf48_ENST00000354588.3_Missense_Mutation_p.S194L|C11orf48_ENST00000525675.1_Missense_Mutation_p.R28W|C11orf48_ENST00000524958.1_Missense_Mutation_p.R28W|C11orf48_ENST00000532208.1_Missense_Mutation_p.S194L|RP11-831H9.11_ENST00000528405.1_Missense_Mutation_p.R28W|METTL12_ENST00000532971.1_5'Flank|SNORA57_ENST00000383870.1_RNA			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	220										endometrium(1)|lung(5)|urinary_tract(1)	7						CGCCGCTCCCGATTCAACACC	0.632																																																0													27	28	28					11																	62432403		2202	4297	6499	SO:0001583	missense	79081			BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.659C>T	chr11.hg19:g.62432403G>A	ENSP00000416856:p.Ser220Leu		Q96NA4	Missense_Mutation	SNP	ENST00000431002.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.124301|4.124301	0.77436|0.77436	.|.	.|.	ENSG00000255432;ENSG00000162194;ENSG00000162194;ENSG00000162194|ENSG00000162194	ENST00000528405;ENST00000524958;ENST00000525675;ENST00000415855|ENST00000354588;ENST00000431002;ENST00000532208	.|.	.|.	.|.	4.84|4.84	3.9|3.9	0.45041|0.45041	.|.	.|.	.|.	.|.	.|.	T|T	0.21227|0.21227	0.0511|0.0511	N|N	0.14661|0.14661	0.345|0.345	0.27538|0.27538	N|N	0.950884|0.950884	.|B	.|0.33904	.|0.431	.|B	.|0.26770	.|0.073	T|T	0.08006|0.08006	-1.0743|-1.0743	6|8	0.87932|0.40728	D|T	0|0.16	-1.3326|-1.3326	12.4856|12.4856	0.55871|0.55871	0.0:0.0:0.825:0.175|0.0:0.0:0.825:0.175	.|.	.|194	.|Q9BQE6-2	.|.	W|L	28;28;28;64|194;220;194	.|.	ENSP00000410979:R64W|ENSP00000346600:S194L	R|S	-|-	1|2	2|0	C11orf48;RP11-831H9.11|C11orf48	62188979|62188979	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.497000|0.497000	0.33675|0.33675	1.639000|1.639000	0.37176|0.37176	1.307000|1.307000	0.44944|0.44944	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.632	C11orf48-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000395233.1	NM_024099		A	62432403	G	A	62432403	3	1	24	1	0	0	0	0	1	0	0	0	1646	1059	37	1	222	1	C11orf48	11	62432403	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	925394	62432403	72574113	55	1713											
BSCL2	2785	hgsc.bcm.edu	37	11	62474607	62474607	+	5'Flank	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr11:62474607G>A	ENST00000294117.5	+	0	0				BSCL2_ENST00000433053.1_Nonsense_Mutation_p.Q21*|BSCL2_ENST00000405837.1_Nonsense_Mutation_p.Q21*|BSCL2_ENST00000537604.1_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Nonsense_Mutation_p.Q21*|BSCL2_ENST00000407022.3_5'Flank|BSCL2_ENST00000278893.7_5'Flank|BSCL2_ENST00000421906.1_5'Flank|BSCL2_ENST00000403550.1_5'Flank	NM_012202.4	NP_036334.1	P63215	GBG3_HUMAN	guanine nucleotide binding protein (G protein), gamma 3						activation of MAPK activity (GO:0000187)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						CCTTTGATCTGGTCTCCGCAC	0.542																																																0													249	216	226					11																	62474607		692	1591	2283	SO:0001631	upstream_gene_variant	26580			AF075042	CCDS8032.1	11p11	2008-07-18				ENSG00000162188			4405	protein-coding gene	gene with protein product	"guanine nucleotide-binding protein gamma-3 subunit", "NBP gamma-3"	608941				10644457	Standard	NM_012202		Approved		uc001nuv.4	P63215			chr11.hg19:g.62474607G>A	Exception_encountered		B2R4S7|P29798|Q61014	Nonsense_Mutation	SNP	ENST00000294117.5	hg19	CCDS8032.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648671	0.47258	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000360796;ENST00000531524;ENST00000524862;ENST00000525000;ENST00000532818;ENST00000464544;ENST00000530009;ENST00000528874	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.9783	12.5249	0.56081	0.0:0.0:1.0:0.0	.	.	.	.	X	21;21;21;21;21;4;21;21;21;21	.	ENSP00000301781:Q21X	Q	-	1	0	BSCL2	62231183	0.872000	0.30054	0.340000	0.25575	0.344000	0.29017	3.627000	0.54252	2.665000	0.90641	0.655000	0.94253	CAG		0.542	GNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395020.1	NM_012202		A	62474607	G	A	62474607	1	1	24	0	1	0	0	0	0	0	0	0	1529	1357	47	2		2	BSCL2	11	62474607	5'Flank	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	42204	62474607	72531909	56	1714											
IGSF9B	22997	hgsc.bcm.edu	37	11	133805518	133805518	+	Missense_Mutation	SNP	C	C	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr11:133805518C>T	ENST00000321016.8	-	7	1191	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V321M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	321					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCACACTGCACGGTCAGGTAC	0.632																																																0													18	21	20					11																	133805518		1988	4151	6139	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.961G>A	chr11.hg19:g.133805518C>T	ENSP00000317980:p.Val321Met		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	hg19		.	.	.	.	.	.	.	.	.	.	C	28.2	4.902639	0.92035	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.61158	0.13;0.13;0.13	5.36	5.36	0.76844	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84474	0.5480	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89501	0.3764	9	0.87932	D	0	.	19.0883	0.93215	0.0:1.0:0.0:0.0	.	321	Q9UPX0	TUTLB_HUMAN	M	321;163;321	ENSP00000317980:V321M;ENSP00000436552:V163M;ENSP00000436576:V321M	ENSP00000317980:V321M	V	-	1	0	IGSF9B	133310728	1.000000	0.71417	0.986000	0.45419	0.947000	0.59692	7.406000	0.80017	2.500000	0.84329	0.561000	0.74099	GTG		0.632	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		T	133805518	C	T	133805518	3	4	24	1	0	0	0	0	1	0	0	0	7608	536	19	1	3140	1	IGSF9B	11	133805518	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	71330911	133805518	1200998	57	1715											
ING4	51147	hgsc.bcm.edu	37	12	6760546	6760546	+	Frame_Shift_Del	DEL	G	G	-	rs371902029		TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr12:6760546delG	ENST00000396807.4	-	7	692	c.654delC	c.(652-654)tccfs	p.S218fs	ING4_ENST00000423703.2_Frame_Shift_Del_p.P169fs|ING4_ENST00000444704.2_Frame_Shift_Del_p.S194fs|ING4_ENST00000412586.2_Frame_Shift_Del_p.S215fs|ING4_ENST00000486287.1_5'UTR|ING4_ENST00000341550.4_Frame_Shift_Del_p.S217fs|ING4_ENST00000446105.2_Frame_Shift_Del_p.S214fs	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	218					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						ACCACTCAATGGAACACTGGA	0.532																																																0													88	74	79					12																	6760546		2203	4300	6503	SO:0001589	frameshift_variant	51147			AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"Zinc fingers, PHD-type"	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.654delC	chr12.hg19:g.6760546delG	ENSP00000380024:p.Ser218fs		A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Frame_Shift_Del	DEL	ENST00000396807.4	hg19	CCDS44813.1																																																																																				0.532	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280467.2	NM_198287		-	6760546	G	-	6760546	7	5	24	1	0	1	0	1	0	0	0	0	7740	1348	47	0	103	0	ING4	12	6760546	Frame_Shift_Del	DEL	G	TCGA-4A-A93W-01A-11D-A36X-10		6760546	127091349	58	1716											
HOXC6	3223	hgsc.bcm.edu	37	12	54422675	54422675	+	Missense_Mutation	SNP	C	C	A	rs80157375		TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr12:54422675C>A	ENST00000243108.4	+	1	534	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	HOXC6_ENST00000394331.3_Missense_Mutation_p.P42T|RP11-834C11.12_ENST00000513209.1_Intron|RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	124					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGATTTACCCCTGGATGCA	0.473																																																0													88	94	92					12																	54422675		2203	4300	6503	SO:0001583	missense	3223				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"Homeoboxes / ANTP class : HOXL subclass"	5128	protein-coding gene	gene with protein product		142972	"homeo box C6"	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.370C>A	chr12.hg19:g.54422675C>A	ENSP00000243108:p.Pro124Thr		B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	hg19	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656619	0.67586	.	.	ENSG00000197757	ENST00000504315;ENST00000509328;ENST00000394331;ENST00000243108	D;D	0.95622	-3.76;-3.76	5.53	5.53	0.82687	Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98802	1.0740	10	0.87932	D	0	.	18.396	0.90499	0.0:1.0:0.0:0.0	.	124	P09630	HXC6_HUMAN	T	42;42;42;124	ENSP00000377864:P42T;ENSP00000243108:P124T	ENSP00000243108:P124T	P	+	1	0	HOXC6	52708942	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.238000	0.78173	2.882000	0.98803	0.655000	0.94253	CCC		0.473	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			A	54422675	C	A	54422675	3	1	24	1	0	0	0	0	1	0	0	0	7317	623	22	4	372	4	HOXC6	12	54422675	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	47662129	54422675	79429220	59	1717											
HNRNPA1	3178	hgsc.bcm.edu	37	12	54675281	54675282	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr12:54675281_54675282delTG	ENST00000340913.6	+	2	180_181	c.127_128delTG	c.(127-129)tgtfs	p.C43fs	HNRNPA1_ENST00000330752.8_Frame_Shift_Del_p.C43fs|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000546500.1_Frame_Shift_Del_p.C43fs|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Frame_Shift_Del_p.C43fs	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	43	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GCTCACGGACTGTGTGGTAAGA	0.47																																					Colon(83;502 1289 8436 16406 24870)											0																																										SO:0001589	frameshift_variant	3178			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.127_128delTG	chr12.hg19:g.54675285_54675286delTG	ENSP00000341826:p.Cys43fs		A8K4Z8|Q3MIB7|Q6PJZ7	Frame_Shift_Del	DEL	ENST00000340913.6	hg19	CCDS44909.1																																																																																				0.47	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		-	54675282	TG	-	54675281	7	5	24	1	0	1	0	1	0	0	0	0	7259	1580	55	0	133	0	HNRNPA1	12	54675281	Frame_Shift_Del	DEL	TG	TCGA-4A-A93W-01A-11D-A36X-10	252606	54675281	79176614	60	1718											
ARHGAP9	64333	hgsc.bcm.edu	37	12	57871296	57871296	+	Missense_Mutation	SNP	A	A	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr12:57871296A>C	ENST00000356411.2	-	4	840	c.702T>G	c.(700-702)aaT>aaG	p.N234K	ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.N234K|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.N234K|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.N50K|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.N313K|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.N305K			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	234	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CAGTCAGTGAATTTATGTAGA	0.637																																																0													57	63	61					12																	57871296		2203	4300	6503	SO:0001583	missense	64333			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.702T>G	chr12.hg19:g.57871296A>C	ENSP00000348782:p.Asn234Lys		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	hg19		.	.	.	.	.	.	.	.	.	.	A	8.988	0.977083	0.18812	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066;ENST00000549602	T;T;T;T;T;T;T;T;T;D	0.92149	-1.35;-1.35;-1.35;-1.35;-1.35;0.35;0.35;0.35;0.35;-2.98	3.29	-3.24	0.05094	WW/Rsp5/WWP (2);	0.185494	0.43416	N	0.000565	D	0.89291	0.6673	M	0.85710	2.77	0.20074	N	0.999939	P;P;B;P;B;B	0.46784	0.608;0.884;0.361;0.799;0.008;0.023	B;B;B;B;B;B	0.37888	0.202;0.179;0.086;0.26;0.004;0.01	D	0.83749	0.0208	10	0.54805	T	0.06	.	9.9059	0.41375	0.3394:0.0:0.6606:0.0	.	234;313;234;234;234;50	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	K	234;234;234;305;283;50;50;50;87;50;50	ENSP00000377380:N234K;ENSP00000348782:N234K;ENSP00000394307:N234K;ENSP00000377386:N305K;ENSP00000397950:N50K;ENSP00000449829:N50K;ENSP00000450256:N50K;ENSP00000446932:N87K;ENSP00000448424:N50K;ENSP00000450223:N50K	ENSP00000344852:N283K	N	-	3	2	ARHGAP9	56157563	0.887000	0.30362	0.042000	0.18584	0.034000	0.12701	0.087000	0.14958	-0.743000	0.04784	-0.899000	0.02877	AAT		0.637	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		C	57871296	A	C	57871296	3	2	24	1	0	0	0	0	1	0	0	0	889	98	4	5	1553	5	ARHGAP9	12	57871296	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	3196015	57871296	75980599	61	1719											
NAV3	89795	hgsc.bcm.edu	37	12	78562567	78562567	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr12:78562567T>G	ENST00000397909.2	+	24	5075	c.4902T>G	c.(4900-4902)atT>atG	p.I1634M	NAV3_ENST00000536525.2_Missense_Mutation_p.I1634M|NAV3_ENST00000228327.6_Missense_Mutation_p.I1634M|NAV3_ENST00000266692.7_Missense_Mutation_p.I1457M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1634						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAGAAACCATTGAAATGCTGA	0.408										HNSCC(70;0.22)																																						0													77	78	78					12																	78562567		1812	4077	5889	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4902T>G	chr12.hg19:g.78562567T>G	ENSP00000381007:p.Ile1634Met		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.70|16.70	3.195863|3.195863	0.58126|0.58126	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.94650|.	-3.48;-3.48;-3.48;-3.48;-3.48|.	5.41|5.41	2.89|2.89	0.33648|0.33648	.|.	0.000000|.	0.40385|.	U|.	0.001119|.	T|.	0.63212|.	0.2492|.	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.977;0.997;0.977;0.999|.	P;D;P;D|.	0.83275|.	0.863;0.994;0.703;0.996|.	T|.	0.61133|.	-0.7124|.	10|.	0.66056|.	D|.	0.02|.	-9.4096|-9.4096	6.1373|6.1373	0.20241|0.20241	0.2374:0.0707:0.0:0.6919|0.2374:0.0707:0.0:0.6919	.|.	1634;1457;1634;1634|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	M|G	1634;1634;1634;1457;255;263|529	ENSP00000446132:I1634M;ENSP00000381007:I1634M;ENSP00000228327:I1634M;ENSP00000266692:I1457M;ENSP00000448303:I263M|.	ENSP00000228327:I1634M|.	I|X	+|+	3|1	3|0	NAV3|NAV3	77086698|77086698	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.197000|0.197000	0.17197|0.17197	0.995000|0.995000	0.38917|0.38917	0.528000|0.528000	0.53228|0.53228	ATT|TGA		0.408	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		G	78562567	T	G	78562567	3	3	24	1	0	0	0	0	1	0	0	0	10187	1800	63	5	4996	5	NAV3	12	78562567	Missense_Mutation	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10	20691271	78562567	55289328	62	1720											
SOHLH2	54937	hgsc.bcm.edu	37	13	36744692	36744692	+	Silent	SNP	C	C	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr13:36744692C>T	ENST00000379881.3	-	10	1321	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	SOHLH2_ENST00000554962.1_Silent_p.T488T|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.T488T	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	411					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTGTAGTGCACGTCTGGCCCA	0.512																																																0													75	61	65					13																	36744692		2203	4300	6503	SO:0001819	synonymous_variant	100526761			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1233G>A	chr13.hg19:g.36744692C>T			B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	hg19	CCDS9355.1																																																																																				0.512	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		T	36744692	C	T	36744692	2	4	24	1	0	0	0	0	0	0	0	1	14930	523	19	1		1	SOHLH2	13	36744692	Silent	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10		36744692	78425186	63	1721											
DGKH	160851	hgsc.bcm.edu	37	13	42733507	42733507	+	Splice_Site	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr13:42733507G>A	ENST00000337343.4	+	6	749	c.728G>A	c.(727-729)gGc>gAc	p.G243D	DGKH_ENST00000540693.1_Splice_Site_p.G243D|DGKH_ENST00000536612.1_Splice_Site_p.G107D|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000379274.2_Splice_Site_p.G107D|DGKH_ENST00000261491.5_Splice_Site_p.G243D|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	243					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GATGAAGATGGCGTAAGCTGC	0.423																																																0													84	65	72					13																	42733507		2203	4300	6503	SO:0001630	splice_region_variant	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.729+1G>A	chr13.hg19:g.42733507G>A			A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	hg19	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292173	0.59976	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.31	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.89945	0.6862	L	0.55743	1.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.978	D;D;P	0.97110	0.998;1.0;0.841	D	0.90134	0.4208	10	0.56958	D	0.05	.	13.9054	0.63831	0.0737:0.0:0.9263:0.0	.	107;243;243	Q86XP1-3;Q86XP1-2;Q86XP1	.;.;DGKH_HUMAN	D	243;243;243;107;107	ENSP00000440823:G243D;ENSP00000337572:G243D;ENSP00000261491:G243D;ENSP00000368576:G107D;ENSP00000445114:G107D	ENSP00000261491:G243D	G	+	2	0	DGKH	41631507	1.000000	0.71417	0.693000	0.30195	0.158000	0.22134	9.416000	0.97383	1.224000	0.43551	0.655000	0.94253	GGC		0.423	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	Missense_Mutation	A	42733507	G	A	42733507	5	1	24	1	0	0	0	0	0	0	1	0	4472	1217	42	2	750	2	DGKH	13	42733507	Splice_Site	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	5988815	42733507	72436371	64	1722											
MYCBP2	23077	hgsc.bcm.edu	37	13	77642846	77642846	+	Missense_Mutation	SNP	A	A	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr13:77642846A>C	ENST00000544440.2	-	70	11928	c.11911T>G	c.(11911-11913)Tct>Gct	p.S3971A	MYCBP2_ENST00000407578.2_Missense_Mutation_p.S4009A|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3971A					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGGCATCAGAGGAGGCATCT	0.473																																																0													242	190	208					13																	77642846		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11911T>G	chr13.hg19:g.77642846A>C	ENSP00000444596:p.Ser3971Ala			Missense_Mutation	SNP	ENST00000544440.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.26|15.26	2.780536|2.780536	0.49891|0.49891	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.65732	.|-0.17;-0.17;-0.17	5.84|5.84	4.63|4.63	0.57726|0.57726	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46814|0.46814	0.1412|0.1412	N|N	0.21448|0.21448	0.665|0.665	0.51012|0.51012	D|D	0.999903|0.999903	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.28170|0.28170	-1.0052|-1.0052	5|10	.|0.23302	.|T	.|0.38	.|.	12.9953|12.9953	0.58644|0.58644	0.8651:0.1349:0.0:0.0|0.8651:0.1349:0.0:0.0	.|.	.|3971	.|O75592	.|MYCB2_HUMAN	R|A	391|3971;4009;3971	.|ENSP00000349892:S3971A;ENSP00000384288:S4009A;ENSP00000444596:S3971A	.|ENSP00000349892:S3971A	L|S	-|-	2|1	0|0	MYCBP2|MYCBP2	76540847|76540847	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	8.906000|8.906000	0.92626|0.92626	0.991000|0.991000	0.38814|0.38814	0.528000|0.528000	0.53228|0.53228	CTC|TCT		0.473	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		C	77642846	A	C	77642846	3	2	24	1	0	0	0	0	1	0	0	0	10020	304	11	5	2067	5	MYCBP2	13	77642846	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	34909339	77642846	37527032	65	1723											
NYNRIN	57523	hgsc.bcm.edu	37	14	24868618	24868618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr14:24868618G>T	ENST00000382554.3	+	2	484	c.166G>T	c.(166-168)Gag>Tag	p.E56*		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	56					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCTACAGCTCGAGGGGCCCCG	0.627																																																0													20	26	25					14																	24868618		1904	4111	6015	SO:0001587	stop_gained	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.166G>T	chr14.hg19:g.24868618G>T	ENSP00000371994:p.Glu56*		Q6P153|Q86TR3|Q9HAC4	Nonsense_Mutation	SNP	ENST00000382554.3	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	39	7.662585	0.98419	.	.	ENSG00000205978	ENST00000382554	.	.	.	4.46	1.38	0.22167	.	0.538297	0.11631	U	0.544789	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.1501	0.06485	0.0954:0.3385:0.392:0.1741	.	.	.	.	X	56	.	ENSP00000371994:E56X	E	+	1	0	NYNRIN	23938458	0.972000	0.33761	0.982000	0.44146	0.993000	0.82548	0.917000	0.28665	0.089000	0.17243	0.491000	0.48974	GAG		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			T	24868618	G	T	24868618	4	4	24	1	0	0	0	0	0	1	0	0	10798	1059	37	4	168	4	NYNRIN	14	24868618	Nonsense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10		24868618	82480922	66	1724											
PPP1R13B	23368	hgsc.bcm.edu	37	14	104206573	104206573	+	Missense_Mutation	SNP	T	T	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr14:104206573T>A	ENST00000202556.9	-	12	2462	c.2180A>T	c.(2179-2181)tAc>tTc	p.Y727F	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.Y146F|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	727	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GAAGCGCTGGTACAGCAGCTT	0.662																																																0													47	56	53					14																	104206573		1954	4129	6083	SO:0001583	missense	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2180A>T	chr14.hg19:g.104206573T>A	ENSP00000202556:p.Tyr727Phe		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	hg19	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.849691	0.91277	.	.	ENSG00000088808	ENST00000202556;ENST00000423488	T;T	0.76839	-0.44;-1.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	M	0.67700	2.07	0.53005	D	0.99996	D	0.69078	0.997	D	0.70716	0.97	D	0.87435	0.2391	10	0.59425	D	0.04	.	15.6938	0.77477	0.0:0.0:0.0:1.0	.	727	Q96KQ4	ASPP1_HUMAN	F	727;146	ENSP00000202556:Y727F;ENSP00000395213:Y146F	ENSP00000202556:Y727F	Y	-	2	0	PPP1R13B	103276326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.678000	0.84035	2.102000	0.63906	0.448000	0.29417	TAC		0.662	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		A	104206573	T	A	104206573	3	1	24	1	0	0	0	0	1	0	0	0	12362	1638	57	5	1116	5	PPP1R13B	14	104206573	Missense_Mutation	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10	79337955	104206573	3142967	67	1725											
ASPG	374569	hgsc.bcm.edu	37	14	104559866	104559866	+	Missense_Mutation	SNP	T	T	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr14:104559866T>A	ENST00000551177.1	+	3	322	c.230T>A	c.(229-231)cTg>cAg	p.L77Q	ASPG_ENST00000546892.2_Missense_Mutation_p.L77Q|ASPG_ENST00000455920.2_Missense_Mutation_p.L77Q	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	77	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TACACCGTGCTGGAGTGCCAG	0.632																																																0													77	89	85					14																	104559866		2068	4187	6255	SO:0001583	missense	374569				CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.230T>A	chr14.hg19:g.104559866T>A	ENSP00000450040:p.Leu77Gln		B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	hg19	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	T	13.99	2.402521	0.42613	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.24151	1.87;1.87;1.87	3.57	3.57	0.40892	.	0.156561	0.42821	D	0.000653	T	0.46014	0.1371	M	0.73753	2.245	0.45183	D	0.998195	P;D;D;D	0.58620	0.942;0.975;0.968;0.983	P;P;P;D	0.66497	0.8;0.886;0.819;0.944	T	0.40553	-0.9557	10	0.38643	T	0.18	-8.8351	11.416	0.49951	0.0:0.0:0.0:1.0	.	77;77;77;105	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	Q	77;105;77;77	ENSP00000450040:L77Q;ENSP00000448911:L77Q;ENSP00000389003:L77Q	ENSP00000299234:L105Q	L	+	2	0	ASPG	103629619	1.000000	0.71417	0.994000	0.49952	0.644000	0.38419	4.913000	0.63341	1.406000	0.46857	0.402000	0.26972	CTG		0.632	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		A	104559866	T	A	104559866	3	1	24	1	0	0	0	0	1	0	0	0	1052	1580	55	5	240	5	ASPG	14	104559866	Missense_Mutation	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10	353293	104559866	2789674	68	1726											
MAPKBP1	23005	hgsc.bcm.edu	37	15	42114511	42114511	+	Silent	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr15:42114511G>A	ENST00000456763.2	+	27	3334	c.3138G>A	c.(3136-3138)gaG>gaA	p.E1046E	MAPKBP1_ENST00000260357.7_Silent_p.E879E|MAPKBP1_ENST00000457542.2_Silent_p.E1040E|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Silent_p.E1040E|MAPKBP1_ENST00000221214.6_Silent_p.E923E	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1046	Poly-Glu.									breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGGAAGAAGAGGAGGGAGGCA	0.587																																																0													44	45	45					15																	42114511		2203	4300	6503	SO:0001819	synonymous_variant	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3138G>A	chr15.hg19:g.42114511G>A			A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	hg19	CCDS45239.1																																																																																				0.587	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		A	42114511	G	A	42114511	2	1	24	1	0	0	0	0	0	0	0	1	9294	991	35	2		2	MAPKBP1	15	42114511	Silent	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10		42114511	60416881	69	1727											
IGDCC4	57722	hgsc.bcm.edu	37	15	65676599	65676599	+	Silent	SNP	G	G	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr15:65676599G>T	ENST00000352385.2	-	20	3710	c.3501C>A	c.(3499-3501)atC>atA	p.I1167I	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CAACACCCGAGATGAGATCAG	0.622																																																0													29	32	31					15																	65676599		2201	4299	6500	SO:0001819	synonymous_variant	57722				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3501C>A	chr15.hg19:g.65676599G>T			Q9HCE4	Silent	SNP	ENST00000352385.2	hg19	CCDS10206.1																																																																																				0.622	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		T	65676599	G	T	65676599	2	4	24	1	0	0	0	0	0	0	0	1	7571	932	33	4		4	IGDCC4	15	65676599	Silent	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	23562088	65676599	36854793	70	1728											
FSD2	123722	hgsc.bcm.edu	37	15	83428118	83428118	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr15:83428118delT	ENST00000334574.8	-	13	2413	c.2232delA	c.(2230-2232)aaafs	p.K744fs	RP11-752G15.6_ENST00000561107.1_RNA|RP11-752G15.6_ENST00000558174.1_RNA|RP11-752G15.6_ENST00000559366.1_RNA|FSD2_ENST00000541889.1_Frame_Shift_Del_p.K699fs			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	744	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AAGTGACATGTTTTGGCATTG	0.438																																																0													71	75	73					15																	83428118		1968	4158	6126	SO:0001589	frameshift_variant	123722			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.2232delA	chr15.hg19:g.83428118delT	ENSP00000335651:p.Lys744fs		B3KVG1|B7ZM02	Frame_Shift_Del	DEL	ENST00000334574.8	hg19	CCDS45332.1																																																																																				0.438	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		-	83428118	T	-	83428118	7	5	24	1	0	1	0	1	0	0	0	0	6073	1722	60	0	21	0	FSD2	15	83428118	Frame_Shift_Del	DEL	T	TCGA-4A-A93W-01A-11D-A36X-10	17751519	83428118	19103274	71	1729											
WDR24	84219	hgsc.bcm.edu	37	16	734812	734812	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr16:734812G>T	ENST00000248142.6	-	13	2684	c.2685C>A	c.(2683-2685)caC>caA	p.H895Q	JMJD8_ENST00000293882.4_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.H765Q|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	895										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TGTGCTGCAGGTGGCCGCCGT	0.677																																																0													16	14	14					16																	734812		2152	4256	6408	SO:0001583	missense	84219			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2685C>A	chr16.hg19:g.734812G>T	ENSP00000248142:p.His895Gln		A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	hg19		.	.	.	.	.	.	.	.	.	.	g	13.02	2.111265	0.37242	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	D;D	0.98419	-4.92;-3.35	4.77	-1.03	0.10102	.	0.000000	0.85682	D	0.000000	D	0.98817	0.9601	M	0.92923	3.36	0.53005	D	0.999969	D	0.76494	0.999	D	0.78314	0.991	D	0.98611	1.0663	10	0.87932	D	0	-36.2207	9.962	0.41701	0.4486:0.0:0.5514:0.0	.	765	Q96S15-2	.	Q	895;765	ENSP00000248142:H895Q;ENSP00000293883:H765Q	ENSP00000248142:H895Q	H	-	3	2	WDR24	674813	0.998000	0.40836	0.998000	0.56505	0.957000	0.61999	0.387000	0.20718	-0.015000	0.14150	-0.360000	0.07572	CAC		0.677	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		T	734812	G	T	734812	3	4	24	1	0	0	0	0	1	0	0	0	17286	1252	44	4	81	4	WDR24	16	734812	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10		734812	89619941	72	1730											
TNRC6A	27327	hgsc.bcm.edu	37	16	24801496	24801496	+	Silent	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr16:24801496G>A	ENST00000395799.3	+	6	1662	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	TNRC6A_ENST00000315183.7_Silent_p.E511E	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	511	Interaction with argonaute family proteins.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAATGGAGAGTCAAAAAGTG	0.483																																																0													107	104	105					16																	24801496		2197	4300	6497	SO:0001819	synonymous_variant	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1533G>A	chr16.hg19:g.24801496G>A			C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	hg19	CCDS10624.2																																																																																				0.483	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		A	24801496	G	A	24801496	2	1	24	1	0	0	0	0	0	0	0	1	16345	1020	36	2		2	TNRC6A	16	24801496	Silent	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	24066684	24801496	65553257	73	1731											
ELMO3	1874	hgsc.bcm.edu	37	16	67233133	67233133	+	IGR	SNP	A	A	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr16:67233133A>G	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Silent_p.G21G|ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000393997.2_Silent_p.G21G	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TCGGAAAGGGAGGACCTCCTC	0.692																																																0													21	30	27					16																	67233133		2078	4199	6277	SO:0001628	intergenic_variant	79767			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		chr16.hg19:g.67233133A>G			A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	ENST00000379378.3	hg19	CCDS32464.1																																																																																				0.692	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		G	67233133	A	G	67233133	1	3	24	0	1	0	0	0	0	0	0	0	5069	291	11	3		3	ELMO3	16	67233133	IGR	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	42431637	67233133	23121620	74	1732											
ZDHHC7	55625	hgsc.bcm.edu	37	16	85012877	85012877	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr16:85012877delC	ENST00000313732.4	-	5	807	c.455delG	c.(454-456)tgtfs	p.C152fs	ZDHHC7_ENST00000564466.1_Frame_Shift_Del_p.C189fs|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	152					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						TTTCCGAATACATCTTTTGCA	0.348																																																0													104	101	102					16																	85012877		2199	4300	6499	SO:0001589	frameshift_variant	55625			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.455delG	chr16.hg19:g.85012877delC	ENSP00000315604:p.Cys152fs		D3DUM1|Q8WV42|Q9NVD8	Frame_Shift_Del	DEL	ENST00000313732.4	hg19	CCDS10950.1																																																																																				0.348	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		-	85012877	C	-	85012877	7	5	24	1	0	1	0	1	0	0	0	0	17625	478	17	0	487	0	ZDHHC7	16	85012877	Frame_Shift_Del	DEL	C	TCGA-4A-A93W-01A-11D-A36X-10	17779744	85012877	5341876	75	1733											
JPH3	57338	hgsc.bcm.edu	37	16	87724046	87724046	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr16:87724046G>T	ENST00000284262.2	+	4	2322	c.2080G>T	c.(2080-2082)Gac>Tac	p.D694Y	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	694					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTGCGTTGGGACTTGACCTT	0.662																																																0													13	12	12					16																	87724046		2172	4276	6448	SO:0001583	missense	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.2080G>T	chr16.hg19:g.87724046G>T	ENSP00000284262:p.Asp694Tyr		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	hg19	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931957	0.73442	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.58210	0.35	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.67457	-0.5666	10	0.72032	D	0.01	.	15.8177	0.78615	0.0:0.0:1.0:0.0	.	694	Q8WXH2	JPH3_HUMAN	Y	557;694	ENSP00000284262:D694Y	ENSP00000284262:D694Y	D	+	1	0	JPH3	86281547	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.048000	0.93830	1.972000	0.57404	0.650000	0.86243	GAC		0.662	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			T	87724046	G	T	87724046	3	4	24	1	0	0	0	0	1	0	0	0	7964	1174	41	4	2094	4	JPH3	16	87724046	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	2711169	87724046	2630707	76	1734											
ANKRD11	29123	hgsc.bcm.edu	37	16	89348979	89348979	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr16:89348979G>A	ENST00000301030.4	-	9	4431	c.3971C>T	c.(3970-3972)tCt>tTt	p.S1324F	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1324F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1324	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCCGTGAAAGAGACCTCCAG	0.582																																																0													38	39	39					16																	89348979		2198	4299	6497	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3971C>T	chr16.hg19:g.89348979G>A	ENSP00000301030:p.Ser1324Phe		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	hg19	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204556	0.38905	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.51325	0.71;0.71	5.21	5.21	0.72293	.	0.484210	0.22246	N	0.062606	T	0.63010	0.2475	M	0.67953	2.075	0.53688	D	0.999977	D	0.62365	0.991	P	0.55161	0.77	T	0.67162	-0.5740	10	0.87932	D	0	.	18.7133	0.91666	0.0:0.0:1.0:0.0	.	1324	Q6UB99	ANR11_HUMAN	F	1324	ENSP00000301030:S1324F;ENSP00000367581:S1324F	ENSP00000301030:S1324F	S	-	2	0	ANKRD11	87876480	0.998000	0.40836	0.044000	0.18714	0.062000	0.15995	5.689000	0.68234	2.577000	0.86979	0.563000	0.77884	TCT		0.582	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		A	89348979	G	A	89348979	3	1	24	1	0	0	0	0	1	0	0	0	639	942	33	2	4040	2	ANKRD11	16	89348979	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	1624933	89348979	1005774	77	1735											
ZNF594	84622	hgsc.bcm.edu	37	17	5086715	5086715	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr17:5086715A>T	ENST00000399604.4	-	1	977	c.837T>A	c.(835-837)agT>agA	p.S279R	ZNF594_ENST00000575779.1_Missense_Mutation_p.S279R			Q96JF6	ZN594_HUMAN	zinc finger protein 594	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAAGGTGTGAACTTTGACTGA	0.413																																																0													78	81	80					17																	5086715		2191	4295	6486	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.837T>A	chr17.hg19:g.5086715A>T	ENSP00000382513:p.Ser279Arg		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	hg19	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	A	0.815	-0.750550	0.03041	.	.	ENSG00000180626	ENST00000399604	T	0.35973	1.28	2.5	0.216	0.15258	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18882	0.0453	N	0.21282	0.65	0.09310	N	1	P	0.46621	0.881	B	0.42653	0.394	T	0.09185	-1.0686	9	0.15499	T	0.54	.	2.072	0.03615	0.4378:0.0:0.3138:0.2484	.	279	Q96JF6	ZN594_HUMAN	R	279	ENSP00000382513:S279R	ENSP00000382513:S279R	S	-	3	2	ZNF594	5027439	0.000000	0.05858	0.994000	0.49952	0.847000	0.48162	-1.795000	0.01752	0.217000	0.20800	0.379000	0.24179	AGT		0.413	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		T	5086715	A	T	5086715	3	4	24	1	0	0	0	0	1	0	0	0	18029	40	2	5	1590	5	ZNF594	17	5086715	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10		5086715	76108495	78	1736											
KRT17	3872	hgsc.bcm.edu	37	17	39780421	39780421	+	Missense_Mutation	SNP	A	A	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr17:39780421A>G	ENST00000311208.8	-	1	408	c.341T>C	c.(340-342)gTg>gCg	p.V114A	JUP_ENST00000540235.1_Intron|KRT42P_ENST00000438131.1_RNA	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	114	Coil 1A.|Peptide epitope S1; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				ACGGATCTTCACCTCCAGCTC	0.617																																					Pancreas(92;1242 2086 39193 50508)											0													99	110	106					17																	39780421		2203	4300	6503	SO:0001583	missense	3872			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.341T>C	chr17.hg19:g.39780421A>G	ENSP00000308452:p.Val114Ala		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	hg19	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	A	7.338	0.620347	0.14193	.	.	ENSG00000128422	ENST00000311208	D	0.88124	-2.34	4.77	4.77	0.60923	Filament (1);	0.651197	0.12932	N	0.427268	T	0.76737	0.4029	N	0.21583	0.68	0.80722	D	1	B	0.20550	0.046	B	0.28991	0.097	T	0.65911	-0.6053	10	0.08837	T	0.75	.	6.9946	0.24774	0.7002:0.1529:0.0:0.1469	.	114	Q04695	K1C17_HUMAN	A	114	ENSP00000308452:V114A	ENSP00000308452:V114A	V	-	2	0	KRT17	37033947	0.988000	0.35896	1.000000	0.80357	0.572000	0.35998	1.849000	0.39318	2.132000	0.65825	0.260000	0.18958	GTG		0.617	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		G	39780421	A	G	39780421	3	3	24	1	0	0	0	0	1	0	0	0	8456	159	6	3	989	3	KRT17	17	39780421	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	34693706	39780421	41414789	79	1737											
ASB16	92591	hgsc.bcm.edu	37	17	42249482	42249482	+	Missense_Mutation	SNP	A	A	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr17:42249482A>C	ENST00000293414.1	+	2	454	c.370A>C	c.(370-372)Aca>Cca	p.T124P		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	124					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCGAGGCTACACAGACTGTGC	0.632																																																0													59	54	56					17																	42249482		2203	4300	6503	SO:0001583	missense	92591			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.370A>C	chr17.hg19:g.42249482A>C	ENSP00000293414:p.Thr124Pro		B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	hg19	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157459	0.38119	.	.	ENSG00000161664	ENST00000293414	T	0.65178	-0.14	5.55	4.48	0.54585	Ankyrin repeat-containing domain (4);	0.366498	0.31734	N	0.007154	T	0.48059	0.1479	N	0.16833	0.445	0.09310	N	0.99999	P	0.42941	0.794	P	0.46629	0.522	T	0.42050	-0.9474	10	0.62326	D	0.03	-3.1755	4.6071	0.12383	0.6723:0.1645:0.1631:0.0	.	124	Q96NS5	ASB16_HUMAN	P	124	ENSP00000293414:T124P	ENSP00000293414:T124P	T	+	1	0	ASB16	39605008	0.001000	0.12720	0.589000	0.28718	0.238000	0.25445	0.447000	0.21710	1.127000	0.42034	0.533000	0.62120	ACA		0.632	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			C	42249482	A	C	42249482	3	2	24	1	0	0	0	0	1	0	0	0	1020	159	6	5	376	5	ASB16	17	42249482	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	2469061	42249482	38945728	80	1738											
OSBPL1A	114876	hgsc.bcm.edu	37	18	21761235	21761235	+	Silent	SNP	G	G	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr18:21761235G>T	ENST00000319481.3	-	19	1892	c.1686C>A	c.(1684-1686)tcC>tcA	p.S562S	OSBPL1A_ENST00000357041.4_Silent_p.S180S|OSBPL1A_ENST00000399443.3_Silent_p.S49S	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	562					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCGTGATCTTGGATAGTTCCT	0.388																																																0													111	101	104					18																	21761235		2203	4300	6503	SO:0001819	synonymous_variant	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1686C>A	chr18.hg19:g.21761235G>T			B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	hg19	CCDS11884.1																																																																																				0.388	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		T	21761235	G	T	21761235	2	4	24	1	0	0	0	0	0	0	0	1	11279	1335	47	4		4	OSBPL1A	18	21761235	Silent	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10		21761235	56316013	81	1739											
SOCS6	9306	hgsc.bcm.edu	37	18	67992862	67992862	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr18:67992862A>T	ENST00000397942.3	+	2	1274	c.958A>T	c.(958-960)Aat>Tat	p.N320Y	SOCS6_ENST00000582322.1_Missense_Mutation_p.N320Y	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	320					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				AATGCAGAATAATCAAATCCA	0.512																																					Melanoma(84;1024 1361 24382 36583 42651)											0													75	72	73					18																	67992862		2203	4300	6503	SO:0001583	missense	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.958A>T	chr18.hg19:g.67992862A>T	ENSP00000381034:p.Asn320Tyr		Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	hg19	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.546894	0.27652	.	.	ENSG00000170677	ENST00000397942	T	0.27256	1.68	5.08	1.26	0.21427	.	0.395352	0.23121	N	0.051698	T	0.15392	0.0371	L	0.27053	0.805	0.40211	D	0.977624	B	0.30455	0.28	B	0.26693	0.072	T	0.07028	-1.0794	10	0.72032	D	0.01	-7.4994	7.6716	0.28462	0.6301:0.2986:0.0713:0.0	.	320	O14544	SOCS6_HUMAN	Y	320	ENSP00000381034:N320Y	ENSP00000381034:N320Y	N	+	1	0	SOCS6	66143842	0.999000	0.42202	0.004000	0.12327	0.961000	0.63080	3.127000	0.50484	-0.029000	0.13827	-0.466000	0.05196	AAT		0.512	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			T	67992862	A	T	67992862	3	4	24	1	0	0	0	0	1	0	0	0	14924	362	13	5	960	5	SOCS6	18	67992862	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	46231627	67992862	10084386	82	1740											
ATP8B3	148229	hgsc.bcm.edu	37	19	1802569	1802569	+	Missense_Mutation	SNP	T	T	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr19:1802569T>A	ENST00000310127.6	-	11	1218	c.980A>T	c.(979-981)tAc>tTc	p.Y327F	ATP8B3_ENST00000539485.1_Missense_Mutation_p.Y327F|ATP8B3_ENST00000525591.1_Missense_Mutation_p.Y274F|ATP8B3_ENST00000526092.2_Missense_Mutation_p.Y274F	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	327					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCAGGGAGTATTTCTTGTC	0.577																																																0													130	141	138					19																	1802569		2127	4225	6352	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.980A>T	chr19.hg19:g.1802569T>A	ENSP00000311336:p.Tyr327Phe		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	hg19	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	t	4.280	0.051064	0.08243	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	3.72	3.72	0.42706	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.450694	0.23629	U	0.046144	T	0.70500	0.3231	L	0.48362	1.52	0.09310	N	1	D;P;P	0.53312	0.959;0.891;0.695	B;P;P	0.48400	0.444;0.494;0.576	T	0.61118	-0.7127	10	0.23302	T	0.38	.	11.7676	0.51939	0.0:0.0:0.0:1.0	.	274;327;274	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	F	327;327;274;274;274	ENSP00000311336:Y327F;ENSP00000443574:Y327F;ENSP00000437115:Y274F;ENSP00000445204:Y274F	ENSP00000311336:Y327F	Y	-	2	0	ATP8B3	1753569	0.219000	0.23619	0.600000	0.28864	0.209000	0.24338	3.028000	0.49705	1.569000	0.49696	0.370000	0.22315	TAC		0.577	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		A	1802569	T	A	1802569	3	1	24	1	0	0	0	0	1	0	0	0	1196	1638	57	5	3046	5	ATP8B3	19	1802569	Missense_Mutation	SNP	T	TCGA-4A-A93W-01A-11D-A36X-10		1802569	57326414	83	1741											
ATCAY	85300	hgsc.bcm.edu	37	19	3905489	3905489	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr19:3905489delC	ENST00000450849.2	+	4	661	c.194delC	c.(193-195)gccfs	p.A65fs	ATCAY_ENST00000301260.6_Frame_Shift_Del_p.A65fs|ATCAY_ENST00000398448.3_Frame_Shift_Del_p.A71fs|ATCAY_ENST00000600960.1_Frame_Shift_Del_p.A65fs	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	65					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.A65V(2)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGCTGGTGGCCCCAGAGATC	0.488																																																2	Substitution - Missense(2)	kidney(2)											66	67	66					19																	3905489		1958	4142	6100	SO:0001589	frameshift_variant	85300				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.194delC	chr19.hg19:g.3905489delC	ENSP00000390941:p.Ala65fs		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Frame_Shift_Del	DEL	ENST00000450849.2	hg19	CCDS45923.1																																																																																				0.488	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			-	3905489	C	-	3905489	7	5	24	1	0	1	0	1	0	0	0	0	1077	739	26	0	204	0	ATCAY	19	3905489	Frame_Shift_Del	DEL	C	TCGA-4A-A93W-01A-11D-A36X-10	2102920	3905489	55223494	84	1742											
SIPA1L3	23094	hgsc.bcm.edu	37	19	38631838	38631838	+	Missense_Mutation	SNP	C	C	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr19:38631838C>G	ENST00000222345.6	+	11	3667	c.3158C>G	c.(3157-3159)aCc>aGc	p.T1053S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1053					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGCCGGAGACCTACGACATG	0.622																																																0													57	53	54					19																	38631838		2203	4299	6502	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3158C>G	chr19.hg19:g.38631838C>G	ENSP00000222345:p.Thr1053Ser		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	hg19	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773459	0.31411	.	.	ENSG00000105738	ENST00000222345	T	0.60299	0.2	4.96	4.96	0.65561	.	0.255793	0.40469	N	0.001090	T	0.50752	0.1634	L	0.50333	1.59	0.34666	D	0.723161	B	0.11235	0.004	B	0.12837	0.008	T	0.54892	-0.8225	10	0.10111	T	0.7	-40.2674	17.133	0.86730	0.0:1.0:0.0:0.0	.	1053	O60292	SI1L3_HUMAN	S	1053	ENSP00000222345:T1053S	ENSP00000222345:T1053S	T	+	2	0	SIPA1L3	43323678	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.167000	0.42415	2.583000	0.87209	0.460000	0.39030	ACC		0.622	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		G	38631838	C	G	38631838	3	3	24	1	0	0	0	0	1	0	0	0	14337	507	18	4	3192	4	SIPA1L3	19	38631838	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	34726349	38631838	20497145	85	1743											
FBXO17	115290	hgsc.bcm.edu	37	19	39435737	39435737	+	Missense_Mutation	SNP	C	C	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr19:39435737C>A	ENST00000292852.4	-	5	906	c.565G>T	c.(565-567)Gct>Tct	p.A189S	FBXO17_ENST00000595329.1_Missense_Mutation_p.A189S|SARS2_ENST00000448145.2_Missense_Mutation_p.A24S|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.R93L	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	189	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TTCTCTCGAGCGCCCCACCTG	0.627																																																0													53	50	51					19																	39435737		2203	4300	6503	SO:0001583	missense	115290			AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.565G>T	chr19.hg19:g.39435737C>A	ENSP00000292852:p.Ala189Ser		Q96LQ4	Missense_Mutation	SNP	ENST00000292852.4	hg19	CCDS12526.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470041	0.26423	.	.	ENSG00000104835	ENST00000448145;ENST00000392076;ENST00000292852	T;T	0.29655	1.56;1.56	4.58	4.58	0.56647	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.118955	0.35870	N	0.002926	T	0.44912	0.1316	L	0.60455	1.87	.	.	.	P;D	0.76494	0.657;0.999	B;D	0.85130	0.271;0.997	T	0.43458	-0.9390	9	0.09590	T	0.72	.	10.9909	0.47549	0.0:0.8108:0.1892:0.0	.	24;189	E7EX87;Q96EF6	.;FBX17_HUMAN	S	24;198;189	ENSP00000399330:A24S;ENSP00000292852:A189S	ENSP00000292852:A189S	A	-	1	0	FBXO17	44127577	0.879000	0.30193	0.861000	0.33841	0.182000	0.23217	1.427000	0.34881	2.530000	0.85305	0.467000	0.42956	GCT		0.627	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		A	39435737	C	A	39435737	3	1	24	1	0	0	0	0	1	0	0	0	5732	768	27	4	279	4	FBXO17	19	39435737	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	803899	39435737	19693246	86	1744											
EGLN2	112398	hgsc.bcm.edu	37	19	41306764	41306764	+	Missense_Mutation	SNP	C	C	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr19:41306764C>T	ENST00000593726.1	+	1	1315	c.287C>T	c.(286-288)gCt>gTt	p.A96V	EGLN2_ENST00000303961.4_Missense_Mutation_p.A96V|CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000406058.2_Missense_Mutation_p.A96V|EGLN2_ENST00000594140.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	96	Bipartite nuclear localization signal.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	AGTGAAGGCGCTGCAGCGCTG	0.682																																																0													15	17	17					19																	41306764		2199	4295	6494	SO:0001583	missense	112398			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.287C>T	chr19.hg19:g.41306764C>T	ENSP00000469686:p.Ala96Val		A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	hg19	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576639	0.65878	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.28255	1.62;1.62	4.04	4.04	0.47022	.	0.091223	0.43416	D	0.000568	T	0.19087	0.0458	N	0.19112	0.55	0.26530	N	0.974273	B	0.26935	0.164	B	0.22753	0.041	T	0.15435	-1.0437	10	0.62326	D	0.03	-8.2587	10.0167	0.42018	0.0:0.7939:0.2061:0.0	.	96	Q96KS0	EGLN2_HUMAN	V	96	ENSP00000307080:A96V;ENSP00000385253:A96V	ENSP00000307080:A96V	A	+	2	0	EGLN2	45998604	0.086000	0.21541	0.992000	0.48379	0.870000	0.49936	1.134000	0.31442	2.250000	0.74265	0.491000	0.48974	GCT		0.682	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			T	41306764	C	T	41306764	3	4	24	1	0	0	0	0	1	0	0	0	4971	797	28	2	289	2	EGLN2	19	41306764	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	1871027	41306764	17822219	87	1745											
CYP2S1	29785	hgsc.bcm.edu	37	19	41703754	41703754	+	Silent	SNP	G	G	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr19:41703754G>C	ENST00000310054.4	+	3	630	c.414G>C	c.(412-414)ctG>ctC	p.L138L	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	138					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TGCGGGACCTGGGCATGGGGA	0.617																																																0													77	74	75					19																	41703754		2203	4300	6503	SO:0001819	synonymous_variant	29785			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.414G>C	chr19.hg19:g.41703754G>C			Q9BZ66	Silent	SNP	ENST00000310054.4	hg19	CCDS12573.1																																																																																				0.617	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			C	41703754	G	C	41703754	2	2	24	1	0	0	0	0	0	0	0	1	4176	1335	47	4		4	CYP2S1	19	41703754	Silent	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	396990	41703754	17425229	88	1746											
ZNF649	65251	hgsc.bcm.edu	37	19	52400157	52400157	+	Missense_Mutation	SNP	C	C	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr19:52400157C>G	ENST00000354957.3	-	3	374	c.90G>C	c.(88-90)aaG>aaC	p.K30N	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.K30N	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GGTACAGGTCCTTCTGAGCAG	0.547																																																0													189	174	179					19																	52400157		2203	4300	6503	SO:0001583	missense	65251			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.90G>C	chr19.hg19:g.52400157C>G	ENSP00000347043:p.Lys30Asn		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	hg19	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	6.417	0.445140	0.12164	.	.	ENSG00000198093	ENST00000354957	T	0.02944	4.1	2.51	2.51	0.30379	Krueppel-associated box (4);	.	.	.	.	T	0.16471	0.0396	H	0.95079	3.62	0.19945	N	0.99994	D	0.58620	0.983	P	0.57502	0.822	T	0.05162	-1.0902	9	0.87932	D	0	.	8.5183	0.33259	0.0:1.0:0.0:0.0	.	30	Q9BS31	ZN649_HUMAN	N	30	ENSP00000347043:K30N	ENSP00000347043:K30N	K	-	3	2	ZNF649	57091969	0.071000	0.21146	0.242000	0.24170	0.005000	0.04900	0.529000	0.23019	1.402000	0.46780	0.543000	0.68304	AAG		0.547	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		G	52400157	C	G	52400157	3	3	24	1	0	0	0	0	1	0	0	0	18069	680	24	4	1439	4	ZNF649	19	52400157	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	10696403	52400157	6728826	89	1747											
U2AF2	11338	hgsc.bcm.edu	37	19	56180949	56180949	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr19:56180949A>T	ENST00000308924.4	+	11	1224	c.1184A>T	c.(1183-1185)tAt>tTt	p.Y395F	CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.Y227F|U2AF2_ENST00000450554.2_Missense_Mutation_p.Y391F|CTD-2537I9.13_ENST00000592252.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	395	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y395F(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GACGAGGAGTATGAGGAGATC	0.642																																																1	Substitution - Missense(1)	lung(1)											154	136	142					19																	56180949		2203	4300	6503	SO:0001583	missense	11338			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1184A>T	chr19.hg19:g.56180949A>T	ENSP00000307863:p.Tyr395Phe		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	hg19	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199227	0.58126	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.15834	2.43;2.39	4.72	4.72	0.59763	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.64402	D	0.000001	T	0.32346	0.0826	L	0.56396	1.775	0.80722	D	1	B;P	0.39326	0.214;0.668	P;P	0.54856	0.462;0.762	T	0.02244	-1.1189	10	0.29301	T	0.29	-7.7435	13.4951	0.61421	1.0:0.0:0.0:0.0	.	395;391	P26368;P26368-2	U2AF2_HUMAN;.	F	395;391	ENSP00000307863:Y395F;ENSP00000388475:Y391F	ENSP00000307863:Y395F	Y	+	2	0	U2AF2	60872761	1.000000	0.71417	0.884000	0.34674	0.008000	0.06430	8.801000	0.91905	1.911000	0.55334	0.533000	0.62120	TAT		0.642	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		T	56180949	A	T	56180949	3	4	24	1	0	0	0	0	1	0	0	0	16828	449	16	5	1226	5	U2AF2	19	56180949	Missense_Mutation	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	3780792	56180949	2948034	90	1748											
ZNF543	125919	hgsc.bcm.edu	37	19	57840518	57840518	+	Missense_Mutation	SNP	C	C	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr19:57840518C>A	ENST00000321545.4	+	4	2033	c.1688C>A	c.(1687-1689)aCc>aAc	p.T563N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGAAACCCTACCATTGTAACA	0.428																																																0													94	87	89					19																	57840518		2203	4300	6503	SO:0001583	missense	125919			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1688C>A	chr19.hg19:g.57840518C>A	ENSP00000322545:p.Thr563Asn		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	hg19	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	9.223	1.033879	0.19590	.	.	ENSG00000178229	ENST00000321545	T	0.06608	3.28	2.35	-1.29	0.09288	.	.	.	.	.	T	0.01976	0.0062	N	0.01576	-0.805	0.09310	N	1	B	0.32731	0.382	B	0.29176	0.099	T	0.41324	-0.9515	9	0.72032	D	0.01	.	3.2089	0.06676	0.1777:0.2393:0.0:0.5829	.	563	Q08ER8	ZN543_HUMAN	N	563	ENSP00000322545:T563N	ENSP00000322545:T563N	T	+	2	0	ZNF543	62532330	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-0.247000	0.08866	-0.402000	0.07633	-0.379000	0.06801	ACC		0.428	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		A	57840518	C	A	57840518	3	1	24	1	0	0	0	0	1	0	0	0	17981	507	18	4	1702	4	ZNF543	19	57840518	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	1659569	57840518	1288465	91	1749											
SMOX	54498	hgsc.bcm.edu	37	20	4167467	4167467	+	Intron	SNP	G	G	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr20:4167467G>C	ENST00000305958.4	+	7	1755				SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Missense_Mutation_p.R483S|SMOX_ENST00000379460.2_Intron|SMOX_ENST00000346595.2_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase						cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	atgctaacaggggcgccgtaa	0.473																																																0													70	69	69					20																	4167467		2203	4300	6503	SO:0001627	intron_variant	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1531-450G>C	chr20.hg19:g.4167467G>C			A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	hg19	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	5.907	0.351463	0.11182	.	.	ENSG00000088826	ENST00000278795;ENST00000457205	T;T	0.28895	1.59;1.6	3.49	0.43	0.16515	.	.	.	.	.	T	0.12008	0.0292	.	.	.	0.80722	D	1	B;B	0.30889	0.299;0.072	B;B	0.15052	0.012;0.008	T	0.19614	-1.0300	8	0.10377	T	0.69	.	5.7954	0.18383	0.3566:0.0:0.6434:0.0	.	536;483	Q9NWM0-6;Q9NWM0-4	.;.	S	483;393	ENSP00000278795:R483S;ENSP00000407269:R393S	ENSP00000278795:R483S	R	+	3	2	SMOX	4115467	1.000000	0.71417	0.992000	0.48379	0.923000	0.55619	2.300000	0.43620	0.127000	0.18452	-0.140000	0.14226	AGG		0.473	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		C	4167467	G	C	4167467	1	2	24	0	1	0	0	0	0	0	0	0	14809	1223	43	4		4	SMOX	20	4167467	Intron	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10		4167467	58858053	92	1750											
PAX1	5075	hgsc.bcm.edu	37	20	21695396	21695396	+	Silent	SNP	C	C	T	rs368125977		TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr20:21695396C>T	ENST00000398485.2	+	5	1614	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	520					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CACCACACTTCCTTTATTGGT	0.632																																																0													62	56	58					20																	21695396		2203	4300	6503	SO:0001819	synonymous_variant	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1560C>T	chr20.hg19:g.21695396C>T			B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	hg19	CCDS13146.2																																																																																				0.632	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			T	21695396	C	T	21695396	2	4	24	1	0	0	0	0	0	0	0	1	11480	854	30	2		2	PAX1	20	21695396	Silent	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	17527929	21695396	41330124	93	1751											
SLC32A1	140679	hgsc.bcm.edu	37	20	37356236	37356236	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr20:37356236G>T	ENST00000217420.1	+	2	795	c.532G>T	c.(532-534)Gag>Tag	p.E178*		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	178					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.E178*(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGAAGACGGCGAGGTGGTGCG	0.637																																																1	Substitution - Nonsense(1)	lung(1)											79	63	68					20																	37356236		2203	4300	6503	SO:0001587	stop_gained	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.532G>T	chr20.hg19:g.37356236G>T	ENSP00000217420:p.Glu178*		Q8N489	Nonsense_Mutation	SNP	ENST00000217420.1	hg19	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	37	6.235027	0.97399	.	.	ENSG00000101438	ENST00000217420	.	.	.	4.13	3.16	0.36331	.	0.058315	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-13.9018	11.7879	0.52053	0.0:0.1796:0.8204:0.0	.	.	.	.	X	178	.	ENSP00000217420:E178X	E	+	1	0	SLC32A1	36789650	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.814000	0.62627	1.081000	0.41110	-0.302000	0.09304	GAG		0.637	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		T	37356236	G	T	37356236	4	4	24	1	0	0	0	0	0	1	0	0	14571	1059	37	4	538	4	SLC32A1	20	37356236	Nonsense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	15660840	37356236	25669284	94	1752											
PTPRT	11122	hgsc.bcm.edu	37	20	40790019	40790019	+	Missense_Mutation	SNP	C	C	G			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr20:40790019C>G	ENST00000373187.1	-	17	2654	c.2655G>C	c.(2653-2655)caG>caC	p.Q885H	PTPRT_ENST00000373190.1_Missense_Mutation_p.Q884H|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q894H|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q875H|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q875H|PTPRT_ENST00000373198.4_Missense_Mutation_p.Q904H|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q888H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	885					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCCGTAGCCCTGGCCTCTCT	0.557																																																0													64	68	67					20																	40790019		2105	4252	6357	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2655G>C	chr20.hg19:g.40790019C>G	ENSP00000362283:p.Gln885His		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	hg19	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459433	0.63401	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.2	0.45	0.16624	.	0.057706	0.64402	N	0.000001	T	0.38188	0.1031	L	0.54323	1.7	0.58432	D	0.999998	P;P	0.52692	0.955;0.845	P;B	0.56088	0.791;0.382	T	0.17961	-1.0352	10	0.87932	D	0	.	8.101	0.30857	0.0:0.6568:0.1185:0.2247	.	907;885	O14522-1;O14522	.;PTPRT_HUMAN	H	884;885;888;894;907;875;875	ENSP00000362286:Q884H;ENSP00000362283:Q885H;ENSP00000362289:Q888H;ENSP00000348408:Q894H;ENSP00000362294:Q907H;ENSP00000362280:Q875H;ENSP00000362297:Q875H	ENSP00000348408:Q894H	Q	-	3	2	PTPRT	40223433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.886000	0.28241	0.201000	0.20466	-0.182000	0.12963	CAG		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			G	40790019	C	G	40790019	3	3	24	1	0	0	0	0	1	0	0	0	12818	680	24	4	1730	4	PTPRT	20	40790019	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	3433783	40790019	22235501	95	1753											
PTGIS	5740	hgsc.bcm.edu	37	20	48129710	48129710	+	Silent	SNP	G	G	A	rs561620152		TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr20:48129710G>A	ENST00000244043.4	-	8	1142	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	371					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)	p.D371D(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	ATTCTCGCCCGTCTGCCATGG	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16866	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	large_intestine(1)											97	86	89					20																	48129710		2203	4300	6503	SO:0001819	synonymous_variant	5740				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1113C>T	chr20.hg19:g.48129710G>A			Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Silent	SNP	ENST00000244043.4	hg19	CCDS13419.1																																																																																				0.602	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			A	48129710	G	A	48129710	2	1	24	1	0	0	0	0	0	0	0	1	12758	1136	40	1		1	PTGIS	20	48129710	Silent	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	7339691	48129710	14895810	96	1754											
PHACTR3	116154	hgsc.bcm.edu	37	20	58415459	58415459	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr20:58415459G>A	ENST00000371015.1	+	10	1887	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	PHACTR3_ENST00000359926.3_Missense_Mutation_p.E471K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E433K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E363K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E433K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E433K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E363K	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	474	Required for PP1CA binding and inhibition of PP1 activity.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGAAAGAAGAGAAATCAAGCA	0.358																																																0													138	129	132					20																	58415459		2203	4300	6503	SO:0001583	missense	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1420G>A	chr20.hg19:g.58415459G>A	ENSP00000360054:p.Glu474Lys		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	hg19	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700042	0.88924	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.37058	1.51;1.4;1.22;1.53;1.53;1.53;1.22	5.55	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.71581	2.175	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.869;0.987	D;D;P;D	0.85130	0.997;0.996;0.587;0.937	T	0.64198	-0.6464	10	0.62326	D	0.03	-21.4747	15.4682	0.75419	0.0:0.139:0.861:0.0	.	433;363;474;471	B1AN68;Q96KR7-3;Q96KR7;B1AKX0	.;.;PHAR3_HUMAN;.	K	471;474;363;433;433;433;363	ENSP00000353002:E471K;ENSP00000360054:E474K;ENSP00000379001:E363K;ENSP00000442483:E433K;ENSP00000347866:E433K;ENSP00000378998:E433K;ENSP00000354555:E363K	ENSP00000347866:E433K	E	+	1	0	PHACTR3	57848854	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.609000	0.98334	1.333000	0.45449	0.655000	0.94253	GAA		0.358	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		A	58415459	G	A	58415459	3	1	24	1	0	0	0	0	1	0	0	0	11813	943	33	2	1458	2	PHACTR3	20	58415459	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	10285749	58415459	4610061	97	1755											
C22orf42	150297	hgsc.bcm.edu	37	22	32555136	32555136	+	Missense_Mutation	SNP	C	C	T			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr22:32555136C>T	ENST00000382097.3	-	1	139	c.67G>A	c.(67-69)Gat>Aat	p.D23N	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	23										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GGTCCCACATCTGGCCTGCAG	0.557																																																0													78	72	74					22																	32555136		2203	4300	6503	SO:0001583	missense	150297			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.67G>A	chr22.hg19:g.32555136C>T	ENSP00000371529:p.Asp23Asn		A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	hg19	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	C	3.630	-0.075776	0.07184	.	.	ENSG00000205856	ENST00000382097	T	0.26067	1.76	0.131	-0.261	0.12963	.	.	.	.	.	T	0.17534	0.0421	N	0.08118	0	0.09310	N	1	P	0.46395	0.877	P	0.53518	0.728	T	0.13899	-1.0492	8	0.54805	T	0.06	.	.	.	.	.	23	Q6IC83	CV042_HUMAN	N	23	ENSP00000371529:D23N	ENSP00000371529:D23N	D	-	1	0	C22orf42	30885136	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.069000	0.03444	-1.313000	0.02303	-1.326000	0.01283	GAT		0.557	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		T	32555136	C	T	32555136	3	4	24	1	0	0	0	0	1	0	0	0	2151	913	32	2	724	2	C22orf42	22	32555136	Missense_Mutation	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10		32555136	18749430	98	1756											
NOL12	79159	hgsc.bcm.edu	37	22	38087326	38087326	+	Silent	SNP	C	C	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chr22:38087326C>A	ENST00000359114.4	+	6	695	c.625C>A	c.(625-627)Cgg>Agg	p.R209R	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	209						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					AGGCAAAGCACGGCACAGCGG	0.657																																																0													39	39	39					22																	38087326		2203	4300	6503	SO:0001819	synonymous_variant	79159			Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.625C>A	chr22.hg19:g.38087326C>A				Silent	SNP	ENST00000359114.4	hg19	CCDS13955.1																																																																																				0.657	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		A	38087326	C	A	38087326	2	1	24	1	0	0	0	0	0	0	0	1	10524	527	19	4		4	NOL12	22	38087326	Silent	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10	5532190	38087326	13217240	99	1757											
HUWE1	10075	hgsc.bcm.edu	37	X	53566667	53566667	+	Silent	SNP	C	C	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chrX:53566667C>A	ENST00000342160.3	-	74	12040	c.11583G>T	c.(11581-11583)ggG>ggT	p.G3861G	HUWE1_ENST00000262854.6_Silent_p.G3861G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3861					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTAGACACTCCCCAAGCATGT	0.562																																																0													118	95	103					X																	53566667		2203	4300	6503	SO:0001819	synonymous_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11583G>T	chrX.hg19:g.53566667C>A			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386343	0.25031	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.81	1.61	0.23674	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.6485	0.17602	0.0:0.3479:0.3332:0.3189	.	.	.	.	X	2895;684	.	ENSP00000403236:G684X	G	-	1	0	HUWE1	53583392	0.730000	0.28100	1.000000	0.80357	0.992000	0.81027	-0.225000	0.09151	0.149000	0.19098	0.600000	0.82982	GGA		0.562	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53566667	C	A	53566667	2	1	24	1	0	0	0	0	0	0	0	1	7463	610	22	4		4	HUWE1	23	53566667	Silent	SNP	C	TCGA-4A-A93W-01A-11D-A36X-10		53566667	101703893	100	1758											
MAGEE1	57692	hgsc.bcm.edu	37	X	75651091	75651091	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chrX:75651091G>A	ENST00000361470.2	+	1	3046	c.2768G>A	c.(2767-2769)aGa>aAa	p.R923K		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	923	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AGAATCCACAGAAAGGAACCA	0.493																																																0													71	66	68					X																	75651091		2203	4300	6503	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2768G>A	chrX.hg19:g.75651091G>A	ENSP00000354912:p.Arg923Lys		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	hg19	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	4.934	0.173547	0.09391	.	.	ENSG00000198934	ENST00000361470	T	0.03272	3.99	2.21	1.33	0.21861	.	.	.	.	.	T	0.01353	0.0044	N	0.04508	-0.205	0.22001	N	0.999426	B	0.27286	0.174	B	0.19148	0.024	T	0.44757	-0.9307	9	0.02654	T	1	.	4.1401	0.10189	0.216:0.0:0.784:0.0	.	923	Q9HCI5	MAGE1_HUMAN	K	923	ENSP00000354912:R923K	ENSP00000354912:R923K	R	+	2	0	MAGEE1	75567495	1.000000	0.71417	0.766000	0.31476	0.977000	0.68977	0.700000	0.25601	0.369000	0.24510	0.529000	0.55759	AGA		0.493	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		A	75651091	G	A	75651091	3	1	24	1	0	0	0	0	1	0	0	0	9187	942	33	2	2770	2	MAGEE1	23	75651091	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	22084424	75651091	79619469	101	1759											
TCEAL3	85012	hgsc.bcm.edu	37	X	102864302	102864302	+	Missense_Mutation	SNP	G	G	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chrX:102864302G>C	ENST00000372628.1	+	3	668	c.310G>C	c.(310-312)Gat>Cat	p.D104H	TCEAL3_ENST00000372627.5_Missense_Mutation_p.D104H|TCEAL3_ENST00000243286.3_Missense_Mutation_p.D104H|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CCCGGCTGAAGATTATGTGCC	0.607																																																0													80	82	82					X																	102864302		2203	4300	6503	SO:0001583	missense	85012			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.310G>C	chrX.hg19:g.102864302G>C	ENSP00000361711:p.Asp104His		D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	hg19	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854858	0.71719	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.10573	2.86;2.86;2.86	4.47	4.47	0.54385	.	0.198219	0.25114	N	0.033032	T	0.28067	0.0692	M	0.68952	2.095	0.38999	D	0.959307	D	0.71674	0.998	D	0.68943	0.961	T	0.01998	-1.1232	10	0.72032	D	0.01	.	11.4217	0.49985	0.0:0.0:1.0:0.0	.	104	Q969E4	TCAL3_HUMAN	H	104	ENSP00000361711:D104H;ENSP00000361710:D104H;ENSP00000243286:D104H	ENSP00000243286:D104H	D	+	1	0	TCEAL3	102750958	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.021000	0.41020	2.468000	0.83385	0.538000	0.68166	GAT		0.607	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		C	102864302	G	C	102864302	3	2	24	1	0	0	0	0	1	0	0	0	15677	942	33	4	312	4	TCEAL3	23	102864302	Missense_Mutation	SNP	G	TCGA-4A-A93W-01A-11D-A36X-10	27213211	102864302	52406258	102	1760											
SASH3	54440	hgsc.bcm.edu	37	X	128922424	128922424	+	Silent	SNP	A	A	C			TCGA-4A-A93W-01A-11D-A36X-10	TCGA-4A-A93W-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c87c7ca-a0f4-4ba3-93f2-2d9f3a1db03a	afcc0a63-8340-47fc-a4da-380a1f4fda4a	g.chrX:128922424A>C	ENST00000356892.3	+	3	285	c.171A>C	c.(169-171)tcA>tcC	p.S57S		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	57					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AAGATGACTCAGGTGTCCCCA	0.552																																																0													78	64	69					X																	128922424		2203	4300	6503	SO:0001819	synonymous_variant	54440			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	15975	protein-coding gene	gene with protein product		300441	"chromosome X open reading frame 9"	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.171A>C	chrX.hg19:g.128922424A>C			A6NCH1|A8K7K8|Q5JZ38	Silent	SNP	ENST00000356892.3	hg19	CCDS14614.1																																																																																				0.552	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		C	128922424	A	C	128922424	2	2	24	1	0	0	0	0	0	0	0	1	13855	175	7	5		5	SASH3	23	128922424	Silent	SNP	A	TCGA-4A-A93W-01A-11D-A36X-10	26058122	128922424	26348136	103	1761											
C1orf86	199990	hgsc.bcm.edu	37	1	2116880	2116880	+	Missense_Mutation	SNP	T	T	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr1:2116880T>A	ENST00000400919.3	-	8	1349	c.281A>T	c.(280-282)gAg>gTg	p.E94V	RP11-181G12.2_ENST00000444529.1_RNA|RP11-181G12.2_ENST00000333854.2_RNA|RP11-181G12.2_ENST00000536678.1_RNA	NM_001282671.1	NP_001269600.1	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	93					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCCCCACATCTCAGACGCAAC	0.567																																																0													131	109	116					1																	2116880		692	1591	2283	SO:0001583	missense	199990			AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000400919.3:c.281A>T	chr1.hg19:g.2116880T>A	ENSP00000383710:p.Glu94Val		A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000400919.3	hg19		.	.	.	.	.	.	.	.	.	.	T	7.453	0.643019	0.14451	.	.	ENSG00000162585	ENST00000400919	.	.	.	3.14	-1.25	0.09405	.	.	.	.	.	T	0.12135	0.0295	N	0.08118	0	0.09310	N	1	P	0.41848	0.763	B	0.35550	0.205	T	0.15492	-1.0435	8	0.87932	D	0	.	4.5477	0.12088	0.0:0.2199:0.228:0.552	.	177	Q6ZRT9	.	V	94	.	ENSP00000383710:E94V	E	-	2	0	C1orf86	2106740	0.006000	0.16342	0.000000	0.03702	0.010000	0.07245	0.022000	0.13511	-0.138000	0.11434	-0.366000	0.07423	GAG		0.567	C1orf86-202	KNOWN	basic	protein_coding	protein_coding		NM_182533		A	2116880	T	A	2116880	3	1	25	1	0	0	0	0	1	0	0	0	2065	1551	54	5	166	5	C1orf86	1	2116880	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10		2116880	247133741	1	1762											
ANKRD13C	81573	hgsc.bcm.edu	37	1	70819813	70819813	+	Silent	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr1:70819813G>A	ENST00000370944.4	-	1	592	c.279C>T	c.(277-279)gcC>gcT	p.A93A	HHLA3_ENST00000531950.1_5'Flank|ANKRD13C_ENST00000262346.6_Silent_p.A93A|HHLA3_ENST00000370940.5_5'Flank|HHLA3_ENST00000432224.1_5'Flank|HHLA3_ENST00000359875.5_5'Flank|HHLA3_ENST00000361764.4_5'Flank	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	93					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CGGCCAGAAGGGCCGGGGACT	0.677																																																0													40	53	49					1																	70819813		2203	4299	6502	SO:0001819	synonymous_variant	81573				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.279C>T	chr1.hg19:g.70819813G>A			B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	ENST00000370944.4	hg19	CCDS648.2																																																																																				0.677	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		A	70819813	G	A	70819813	2	1	25	1	0	0	0	0	0	0	0	1	643	1219	43	2		2	ANKRD13C	1	70819813	Silent	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	68702933	70819813	178430808	2	1763											
FCER1A	2205	hgsc.bcm.edu	37	1	159277544	159277544	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr1:159277544G>A	ENST00000368115.1	+	6	695	c.596G>A	c.(595-597)cGt>cAt	p.R199H	FCER1A_ENST00000368114.1_Missense_Mutation_p.R166H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	199					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAGCTCCGCGTGAGAAGTAC	0.413																																																0													116	104	108					1																	159277544		2203	4300	6503	SO:0001583	missense	2205			BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.596G>A	chr1.hg19:g.159277544G>A	ENSP00000357097:p.Arg199His			Missense_Mutation	SNP	ENST00000368115.1	hg19	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441382	0.25900	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02050	4.82;4.48	5.37	-8.56	0.00904	.	9.584880	0.00166	N	0.000000	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	10	0.42905	T	0.14	.	0.8386	0.01145	0.2503:0.329:0.2067:0.214	.	199	P12319	FCERA_HUMAN	H	199;166	ENSP00000357097:R199H;ENSP00000357096:R166H	ENSP00000357096:R166H	R	+	2	0	FCER1A	157544168	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.697000	0.05098	-1.271000	0.02430	-2.604000	0.00161	CGT		0.413	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		A	159277544	G	A	159277544	3	1	25	1	0	0	0	0	1	0	0	0	5776	1145	40	1	614	1	FCER1A	1	159277544	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	88457731	159277544	89973077	3	1764											
ASAP2	8853	hgsc.bcm.edu	37	2	9528626	9528626	+	Silent	SNP	C	C	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr2:9528626C>T	ENST00000281419.3	+	22	2674	c.2334C>T	c.(2332-2334)gcC>gcT	p.A778A	ASAP2_ENST00000315273.4_Silent_p.A778A|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	778	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGCCTGCAGCCCCCAGCACCA	0.582																																																0													26	31	29					2																	9528626		2203	4300	6503	SO:0001819	synonymous_variant	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2334C>T	chr2.hg19:g.9528626C>T			D6W4Y8	Silent	SNP	ENST00000281419.3	hg19	CCDS1661.1																																																																																				0.582	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		T	9528626	C	T	9528626	2	4	25	1	0	0	0	0	0	0	0	1	1011	610	22	2		2	ASAP2	2	9528626	Silent	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10		9528626	233670747	4	1765											
CCDC121	79635	hgsc.bcm.edu	37	2	27850763	27850763	+	5'UTR	SNP	C	C	A	rs555033711	byFrequency	TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr2:27850763C>A	ENST00000324364.3	-	0	84				GPN1_ENST00000424214.1_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.R130S|GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000264718.3_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000407583.3_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000515877.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121											breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GTGGAAGGAGCCTTCTGGGGC	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		20467	0.0		0.0	False		,,,				2504	0.002															0													31	22	25					2																	27850763		692	1591	2283	SO:0001623	5_prime_UTR_variant	79635			AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.-97G>T	chr2.hg19:g.27850763C>A			B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	hg19	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890746	0.33348	.	.	ENSG00000176714	ENST00000394775;ENST00000522876	.	.	.	4.67	-3.58	0.04597	.	.	.	.	.	T	0.15392	0.0371	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35574	-0.9783	8	0.05959	T	0.93	-2.1927	5.3223	0.15887	0.2861:0.4149:0.0:0.299	.	132	E5RHR4	.	S	130;132	.	ENSP00000412150:R130S	R	-	3	2	CCDC121	27704267	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.249000	0.00540	-0.367000	0.08052	-0.467000	0.05162	AGG		0.408	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		A	27850763	C	A	27850763	1	1	25	0	1	0	0	0	0	0	0	0	2759	738	26	4		4	CCDC121	2	27850763	5'UTR	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	18322137	27850763	215348610	5	1766											
IL1RL2	8808	hgsc.bcm.edu	37	2	102808484	102808484	+	Missense_Mutation	SNP	G	G	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr2:102808484G>C	ENST00000264257.2	+	4	519	c.393G>C	c.(391-393)gaG>gaC	p.E131D	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E131D|IL1RL2_ENST00000481806.1_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	131	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TATCAGATGAGTACAAGCAAA	0.373																																																0													108	104	105					2																	102808484		2203	4299	6502	SO:0001583	missense	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.393G>C	chr2.hg19:g.102808484G>C	ENSP00000264257:p.Glu131Asp		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	hg19	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590415	0.28357	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.14516	2.5;2.5;2.5	4.87	-0.423	0.12325	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.696055	0.13195	N	0.406431	T	0.10078	0.0247	L	0.46157	1.445	0.09310	N	1	B	0.26708	0.157	B	0.29663	0.105	T	0.37174	-0.9717	10	0.19590	T	0.45	.	4.3376	0.11094	0.2773:0.3204:0.4023:0.0	.	131	Q9HB29	ILRL2_HUMAN	D	131	ENSP00000264257:E131D;ENSP00000387611:E131D;ENSP00000442184:E131D	ENSP00000264257:E131D	E	+	3	2	IL1RL2	102174916	0.000000	0.05858	0.069000	0.20011	0.782000	0.44232	-0.972000	0.03802	0.069000	0.16605	0.655000	0.94253	GAG		0.373	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		C	102808484	G	C	102808484	3	2	25	1	0	0	0	0	1	0	0	0	7666	1020	36	4	403	4	IL1RL2	2	102808484	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	74957721	102808484	140390889	6	1767											
BAZ2B	29994	hgsc.bcm.edu	37	2	160289282	160289282	+	Missense_Mutation	SNP	T	T	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr2:160289282T>A	ENST00000392783.2	-	9	2381	c.1886A>T	c.(1885-1887)gAt>gTt	p.D629V	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D627V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D629V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D627V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	629	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTGGCTGTCATCAGAttcatc	0.313																																																0													52	51	52					2																	160289282		1964	4171	6135	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1886A>T	chr2.hg19:g.160289282T>A	ENSP00000376534:p.Asp629Val		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	hg19	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.733|9.733	1.162697|1.162697	0.21538|0.21538	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000441143	T;T;T;T|.	0.26518|.	2.59;2.59;2.59;1.73|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.473584|.	0.15421|.	U|.	0.263251|.	T|.	0.56046|.	0.1959|.	L|L	0.29908|0.29908	0.895|0.895	0.36147|0.36147	D|D	0.847176|0.847176	D;D;D;D;D|.	0.89917|.	1.0;0.999;0.998;0.996;0.993|.	D;D;D;D;P|.	0.79108|.	0.992;0.951;0.948;0.923;0.84|.	T|.	0.61019|.	-0.7147|.	10|.	0.54805|.	T|.	0.06|.	-7.9381|-7.9381	16.0396|16.0396	0.80654|0.80654	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	629;433;627;627;629|.	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8|.	.;.;.;.;BAZ2B_HUMAN|.	V|C	627;629;629;627|60	ENSP00000376533:D627V;ENSP00000376534:D629V;ENSP00000348087:D629V;ENSP00000339670:D627V|.	ENSP00000339670:D627V|.	D|X	-|-	2|3	0|0	BAZ2B|BAZ2B	159997528|159997528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.412000|5.412000	0.66392|0.66392	2.274000|2.274000	0.75844|0.75844	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.313	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			A	160289282	T	A	160289282	3	1	25	1	0	0	0	0	1	0	0	0	1332	1435	50	5	4736	5	BAZ2B	2	160289282	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	57480798	160289282	82910091	7	1768											
BAZ2B	29994	hgsc.bcm.edu	37	2	160289383	160289383	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr2:160289383A>T	ENST00000392783.2	-	9	2280	c.1785T>A	c.(1783-1785)gaT>gaA	p.D595E	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D593E|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D595E|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D593E	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	595	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GAATGTCTGAATCTGTTCCTC	0.378																																																0													154	147	149					2																	160289383		1947	4173	6120	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1785T>A	chr2.hg19:g.160289383A>T	ENSP00000376534:p.Asp595Glu		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	hg19	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.22|14.22	2.469691|2.469691	0.43839|0.43839	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000441143	T;T;T;T|.	0.40476|.	1.03;1.03;1.03;1.03|.	5.92|5.92	3.56|3.56	0.40772|0.40772	.|.	0.000000|.	0.38164|.	U|.	0.001790|.	T|T	0.49745|0.49745	0.1575|0.1575	L|L	0.46157|0.46157	1.445|1.445	0.33282|0.33282	D|D	0.562345|0.562345	P;P;P;P;P|.	0.44946|.	0.846;0.734;0.607;0.607;0.473|.	P;B;B;B;B|.	0.49276|.	0.605;0.301;0.146;0.146;0.069|.	T|T	0.56974|0.56974	-0.7890|-0.7890	10|5	0.09590|.	T|.	0.72|.	-16.1747|-16.1747	8.3651|8.3651	0.32382|0.32382	0.6993:0.0:0.3007:0.0|0.6993:0.0:0.3007:0.0	.|.	595;399;593;593;595|.	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8|.	.;.;.;.;BAZ2B_HUMAN|.	E|I	593;595;595;593|27	ENSP00000376533:D593E;ENSP00000376534:D595E;ENSP00000348087:D595E;ENSP00000339670:D593E|.	ENSP00000339670:D593E|.	D|F	-|-	3|1	2|0	BAZ2B|BAZ2B	159997629|159997629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.568000|1.568000	0.36418|0.36418	0.504000|0.504000	0.28082|0.28082	0.533000|0.533000	0.62120|0.62120	GAT|TTC		0.378	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			T	160289383	A	T	160289383	3	4	25	1	0	0	0	0	1	0	0	0	1332	98	4	5	4837	5	BAZ2B	2	160289383	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	101	160289383	82909990	8	1769											
SLC4A10	57282	hgsc.bcm.edu	37	2	162762260	162762260	+	Silent	SNP	C	C	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr2:162762260C>T	ENST00000446997.1	+	15	1953	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	SLC4A10_ENST00000375514.5_Silent_p.I601I|SLC4A10_ENST00000421911.1_Silent_p.I620I|SLC4A10_ENST00000272716.5_Silent_p.I590I|SLC4A10_ENST00000415876.2_Silent_p.I590I	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	620					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCTGCTACATCACTCGGTTTA	0.423																																																0													155	154	154					2																	162762260		2070	4248	6318	SO:0001819	synonymous_variant	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1860C>T	chr2.hg19:g.162762260C>T			B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	hg19	CCDS54411.1																																																																																				0.423	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		T	162762260	C	T	162762260	2	4	25	1	0	0	0	0	0	0	0	1	14657	816	29	2		2	SLC4A10	2	162762260	Silent	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	2472877	162762260	80437113	9	1770											
ITGA6	3655	hgsc.bcm.edu	37	2	173352755	173352755	+	Silent	SNP	A	A	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr2:173352755A>G	ENST00000264106.6	+	19	2711	c.2508A>G	c.(2506-2508)ttA>ttG	p.L836L	ITGA6_ENST00000409080.1_Silent_p.L797L|ITGA6_ENST00000264107.7_Silent_p.L797L|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Silent_p.L678L|ITGA6_ENST00000343713.4_Silent_p.L792L|ITGA6_ENST00000375221.2_Silent_p.L836L			P23229	ITA6_HUMAN	integrin, alpha 6	836					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AACTGCTTTTATCGGTCTCGG	0.328																																																0													176	171	173					2																	173352755		2203	4300	6503	SO:0001819	synonymous_variant	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2508A>G	chr2.hg19:g.173352755A>G			B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	hg19																																																																																					0.328	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				G	173352755	A	G	173352755	2	3	25	1	0	0	0	0	0	0	0	1	7882	446	16	3		3	ITGA6	2	173352755	Silent	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	10590495	173352755	69846618	10	1771											
NFE2L2	4780	hgsc.bcm.edu	37	2	178098799	178098799	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr2:178098799T>G	ENST00000397062.3	-	2	800	c.246A>C	c.(244-246)gaA>gaC	p.E82D	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66D|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82D(8)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTGGGAGAAATTCACCTGTCT	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	9	Substitution - Missense(8)|Deletion - In frame(1)	endometrium(3)|liver(2)|upper_aerodigestive_tract(1)|cervix(1)|oesophagus(1)|kidney(1)											138	137	137					2																	178098799		1903	4104	6007	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.246A>C	chr2.hg19:g.178098799T>G	ENSP00000380252:p.Glu82Asp		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	hg19	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706902	0.89018	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.67;1.67;1.53	5.78	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.87180	2.865	0.54753	D	0.999981	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	D;D;D;D	0.83275	0.991;0.978;0.996;0.991	T	0.64976	-0.6280	10	0.72032	D	0.01	.	11.2269	0.48888	0.0:0.0712:0.0:0.9288	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	D	66;82;66;66;66;66	ENSP00000380253:E66D;ENSP00000380252:E82D;ENSP00000411575:E66D;ENSP00000400073:E66D;ENSP00000412191:E66D;ENSP00000410015:E66D	ENSP00000380252:E82D	E	-	3	2	NFE2L2	177807045	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.909000	0.39917	2.210000	0.71456	0.460000	0.39030	GAA		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		G	178098799	T	G	178098799	3	3	25	1	0	0	0	0	1	0	0	0	10370	1490	52	5	1587	5	NFE2L2	2	178098799	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	4746044	178098799	65100574	11	1772											
TTN	7273	hgsc.bcm.edu	37	2	179470170	179470170	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr2:179470170G>T	ENST00000591111.1	-	229	49153	c.48929C>A	c.(48928-48930)cCt>cAt	p.P16310H	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15383H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9011H|TTN_ENST00000460472.2_Missense_Mutation_p.P8886H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9078H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P17951H|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16310	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACATTAAGAGGTAGGGATGG	0.348																																																0													88	81	83					2																	179470170		1864	4103	5967	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48929C>A	chr2.hg19:g.179470170G>T	ENSP00000465570:p.Pro16310His		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.93	2.384204	0.42308	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.74	5.74	0.90152	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72755	0.3500	M	0.70108	2.13	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	T	0.74515	-0.3640	9	0.87932	D	0	.	19.9346	0.97133	0.0:0.0:1.0:0.0	.	8886;9011;9078;16310	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15383;8886;9078;9011;8886	ENSP00000343764:P15383H;ENSP00000434586:P8886H;ENSP00000340554:P9078H;ENSP00000352154:P9011H	ENSP00000340554:P9078H	P	-	2	0	TTN	179178415	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.728000	0.98792	2.712000	0.92718	0.563000	0.77884	CCT		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179470170	G	T	179470170	3	4	25	1	0	0	0	0	1	0	0	0	16740	1000	35	4	54177	4	TTN	2	179470170	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	1371371	179470170	63729203	12	1773											
SETD2	29072	hgsc.bcm.edu	37	3	47144870	47144870	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr3:47144870T>G	ENST00000409792.3	-	7	4925	c.4883A>C	c.(4882-4884)aAt>aCt	p.N1628T		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1628	Inhibitor binding.|S-adenosyl-L-methionine binding.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACAGCTGTGATTCATGAAACG	0.328			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													170	157	161					3																	47144870		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4883A>C	chr3.hg19:g.47144870T>G	ENSP00000386759:p.Asn1628Thr		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	27.5	4.841046	0.91197	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.95238	-3.65	5.83	5.83	0.93111	SET domain (3);	0.000000	0.56097	D	0.000022	D	0.98732	0.9574	H	0.99800	4.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.99208	1.0875	10	0.87932	D	0	.	14.7708	0.69675	0.0:0.0:0.0:1.0	.	1628;1628	F2Z317;Q9BYW2	.;SETD2_HUMAN	T	1628	ENSP00000386759:N1628T	ENSP00000386759:N1628T	N	-	2	0	SETD2	47119874	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.638000	0.83328	2.240000	0.73641	0.528000	0.53228	AAT		0.328	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47144870	T	G	47144870	3	3	25	1	0	0	0	0	1	0	0	0	14137	1493	52	5	2871	5	SETD2	3	47144870	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10		47144870	150877560	13	1774											
PBRM1	55193	hgsc.bcm.edu	37	3	52598065	52598065	+	Splice_Site	SNP	C	C	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr3:52598065C>T	ENST00000296302.7	-	23	3877		c.e23+1		PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAAGCTTTACCTGAAGTAGT	0.343			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Unknown(3)	kidney(3)											85	84	84					3																	52598065		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3875+1G>A	chr3.hg19:g.52598065C>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	hg19		.	.	.	.	.	.	.	.	.	.	C	24.8	4.571270	0.86542	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0144	0.92888	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52573105	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.818000	0.86416	2.493000	0.84123	0.655000	0.94253	.		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	T	52598065	C	T	52598065	5	4	25	1	0	0	0	0	0	0	1	0	11493	521	18	2	1056	2	PBRM1	3	52598065	Splice_Site	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	5453195	52598065	145424365	14	1775											
PBRM1	55193	hgsc.bcm.edu	37	3	52643768	52643768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr3:52643768G>A	ENST00000296302.7	-	16	2129	c.2128C>T	c.(2128-2130)Cga>Tga	p.R710*	PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R678*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R725*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R725*			Q86U86	PB1_HUMAN	polybromo 1	710	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R710*(2)|p.R678*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTGACTTCGAATTTTTTCC	0.438			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											147	143	144					3																	52643768		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2128C>T	chr3.hg19:g.52643768G>A	ENSP00000296302:p.Arg710*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	hg19		.	.	.	.	.	.	.	.	.	.	G	38	7.040996	0.98021	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.17	3.13	0.36017	.	0.055075	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7405	15.7	0.77536	0.0:0.0:0.6414:0.3586	.	.	.	.	X	678;710;710;710;710;710;725;725;710;669	.	ENSP00000296302:R710X	R	-	1	2	PBRM1	52618808	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.705000	0.25675	1.587000	0.49959	0.655000	0.94253	CGA		0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52643768	G	A	52643768	4	1	25	1	0	0	0	0	0	1	0	0	11493	1066	37	1	2832	1	PBRM1	3	52643768	Nonsense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	45703	52643768	145378662	15	1776											
TOMM70A	9868	hgsc.bcm.edu	37	3	100093911	100093911	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr3:100093911G>A	ENST00000284320.5	-	7	1626	c.1178C>T	c.(1177-1179)gCt>gTt	p.A393V		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	393					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GATGTCAGCAGCCATGTTAAA	0.448																																																0													133	124	127					3																	100093911		2203	4300	6503	SO:0001583	missense	9868			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1178C>T	chr3.hg19:g.100093911G>A	ENSP00000284320:p.Ala393Val		D3DN48	Missense_Mutation	SNP	ENST00000284320.5	hg19	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	G	35	5.553185	0.96501	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.74106	-0.81	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.87688	0.6240	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87951	0.2723	10	0.62326	D	0.03	-9.8008	19.9574	0.97228	0.0:0.0:1.0:0.0	.	393	O94826	TOM70_HUMAN	V	393;286	ENSP00000284320:A393V	ENSP00000284320:A393V	A	-	2	0	TOMM70A	101576601	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.404000	0.97306	2.715000	0.92844	0.561000	0.74099	GCT		0.448	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			A	100093911	G	A	100093911	3	1	25	1	0	0	0	0	1	0	0	0	16367	971	34	2	672	2	TOMM70A	3	100093911	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	47450143	100093911	97928519	16	1777											
ACAD11	84129	hgsc.bcm.edu	37	3	132361614	132361614	+	Silent	SNP	C	C	T	rs144139484		TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr3:132361614C>T	ENST00000264990.6	-	3	1253	c.282G>A	c.(280-282)ttG>ttA	p.L94L	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Silent_p.L94L|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Silent_p.L94L	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	94					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CAATTGAAAACAAGGCTTTCT	0.318																																																0								C		0,4406		0,0,2203	91	96	94		282	2.2	0.9	3	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACAD11	NM_032169.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		94/781	132361614	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84129			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.282G>A	chr3.hg19:g.132361614C>T			Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	ENST00000264990.6	hg19	CCDS3074.1																																																																																				0.318	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		T	132361614	C	T	132361614	2	4	25	1	0	0	0	0	0	0	0	1	109	477	17	2		2	ACAD11	3	132361614	Silent	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	32267703	132361614	65660816	17	1778											
LSG1	55341	hgsc.bcm.edu	37	3	194380833	194380833	+	Missense_Mutation	SNP	C	C	T	rs537601352		TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr3:194380833C>T	ENST00000265245.5	-	6	865	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	184	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GAGTGGGTTTCGAGCATCTAC	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		21403	0.001		0.0	False		,,,				2504	0.0															0													143	125	131					3																	194380833		2203	4300	6503	SO:0001583	missense	55341				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"large subunit GTPase 1 homolog (S. cerevisiae)"			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.551G>A	chr3.hg19:g.194380833C>T	ENSP00000265245:p.Arg184Gln		A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	hg19	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302207	0.95601	.	.	ENSG00000041802	ENST00000265245	T	0.55588	0.51	5.24	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86713	0.1937	10	0.87932	D	0	.	14.7734	0.69696	0.0:0.9293:0.0:0.0707	.	184	Q9H089	LSG1_HUMAN	Q	184	ENSP00000265245:R184Q	ENSP00000265245:R184Q	R	-	2	0	LSG1	195862122	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.242000	0.78210	1.535000	0.49220	-0.150000	0.13652	CGA		0.423	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		T	194380833	C	T	194380833	3	4	25	1	0	0	0	0	1	0	0	0	9051	884	31	1	1461	1	LSG1	3	194380833	Missense_Mutation	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	62019219	194380833	3641597	18	1779											
FRYL	285527	hgsc.bcm.edu	37	4	48550800	48550800	+	Missense_Mutation	SNP	C	C	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr4:48550800C>T	ENST00000503238.1	-	37	4794	c.4795G>A	c.(4795-4797)Gca>Aca	p.A1599T	FRYL_ENST00000358350.4_Missense_Mutation_p.A1599T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.A1599T|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGGATCACTGCTATGTTACAC	0.333																																																0													76	70	72					4																	48550800		1866	4101	5967	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4795G>A	chr4.hg19:g.48550800C>T	ENSP00000426064:p.Ala1599Thr		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	hg19	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.445247|5.445247	0.96187|0.96187	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.07800|.	3.16;3.16;3.16|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77089|0.77089	0.4079|0.4079	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;1.0|.	D;D;D|.	0.91635|.	0.994;0.997;0.999|.	T|T	0.76231|0.76231	-0.3035|-0.3035	10|5	0.72032|.	D|.	0.01|.	.|.	19.3791|19.3791	0.94525|0.94525	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	430;1599;1599|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	T|N	1599|469	ENSP00000426064:A1599T;ENSP00000351113:A1599T;ENSP00000441114:A1599T|.	ENSP00000351113:A1599T|.	A|S	-|-	1|2	0|0	FRYL|FRYL	48245557|48245557	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.950000|0.950000	0.60333|0.60333	7.424000|7.424000	0.80242|0.80242	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.333	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			T	48550800	C	T	48550800	3	4	25	1	0	0	0	0	1	0	0	0	6066	797	28	2	4346	2	FRYL	4	48550800	Missense_Mutation	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10		48550800	142603476	19	1780											
GSTCD	79807	hgsc.bcm.edu	37	4	106744194	106744194	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr4:106744194G>T	ENST00000515279.1	+	6	1544	c.1324G>T	c.(1324-1326)Ggt>Tgt	p.G442C	GSTCD_ENST00000360505.5_Missense_Mutation_p.G442C|GSTCD_ENST00000515255.1_3'UTR|RP11-45L9.1_ENST00000509003.1_RNA|GSTCD_ENST00000394730.3_Missense_Mutation_p.G355C|RP11-45L9.1_ENST00000506527.1_RNA|GSTCD_ENST00000394728.3_Missense_Mutation_p.G442C|RP11-45L9.1_ENST00000504955.1_RNA			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	442						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GGCCAAACCTGGTGACAGAAT	0.388																																																0													172	155	161					4																	106744194		2203	4300	6503	SO:0001583	missense	79807			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.1324G>T	chr4.hg19:g.106744194G>T	ENSP00000422354:p.Gly442Cys		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	hg19	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239681	0.79800	.	.	ENSG00000138780	ENST00000394730;ENST00000515279;ENST00000360505;ENST00000394728	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.99	4.99	0.66335	.	0.054220	0.64402	D	0.000001	T	0.73737	0.3625	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.987	T	0.81462	-0.0922	10	0.87932	D	0	-14.8311	18.625	0.91334	0.0:0.0:1.0:0.0	.	442;65	Q8NEC7;B7Z8J7	GSTCD_HUMAN;.	C	355;442;442;442	ENSP00000378218:G355C;ENSP00000422354:G442C;ENSP00000353695:G442C;ENSP00000378216:G442C	ENSP00000353695:G442C	G	+	1	0	GSTCD	106963643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.092000	0.71414	2.467000	0.83353	0.585000	0.79938	GGT		0.388	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		T	106744194	G	T	106744194	3	4	25	1	0	0	0	0	1	0	0	0	6837	1348	47	4	1342	4	GSTCD	4	106744194	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	58193394	106744194	84410082	20	1781											
FAT1	2195	hgsc.bcm.edu	37	4	187539082	187539082	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr4:187539082T>G	ENST00000441802.2	-	10	8867	c.8658A>C	c.(8656-8658)aaA>aaC	p.K2886N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2886	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGCAACCACTTTAATCTGGT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													182	165	171					4																	187539082		1976	4160	6136	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8658A>C	chr4.hg19:g.187539082T>G	ENSP00000406229:p.Lys2886Asn			Missense_Mutation	SNP	ENST00000441802.2	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	5.728	0.318720	0.10845	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.50277	0.75	4.86	1.01	0.19927	Cadherin (4);Cadherin-like (1);	0.707453	0.14542	N	0.313219	T	0.22589	0.0545	N	0.11845	0.185	0.28042	N	0.933699	B	0.22746	0.074	B	0.23852	0.049	T	0.13845	-1.0494	10	0.25751	T	0.34	.	1.6164	0.02705	0.137:0.1549:0.1427:0.5654	.	2886	Q14517	FAT1_HUMAN	N	2886;2888	ENSP00000406229:K2886N	ENSP00000260147:K2888N	K	-	3	2	FAT1	187776076	0.750000	0.28316	0.560000	0.28344	0.930000	0.56654	0.640000	0.24705	0.097000	0.17492	-0.256000	0.11100	AAA		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		G	187539082	T	G	187539082	3	3	25	1	0	0	0	0	1	0	0	0	5691	1606	56	5	5180	5	FAT1	4	187539082	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	80794888	187539082	3615194	21	1782											
CDH18	1016	hgsc.bcm.edu	37	5	19473699	19473699	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr5:19473699G>A	ENST00000507958.1	-	15	2999	c.2009C>T	c.(2008-2010)gCc>gTc	p.A670V	CDH18_ENST00000274170.4_Missense_Mutation_p.A670V|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.A670V			Q13634	CAD18_HUMAN	cadherin 18, type 2	670					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATGTCAAAGGCCTCTGTGTC	0.517																																																0													153	147	149					5																	19473699		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2009C>T	chr5.hg19:g.19473699G>A	ENSP00000425093:p.Ala670Val		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	hg19	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410909	0.96072	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.80393	-1.37;-1.37;-1.37	6.16	6.16	0.99307	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.88906	2.99	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	D	0.91416	0.5155	9	.	.	.	.	19.4236	0.94732	0.0:0.0:1.0:0.0	.	670	Q13634	CAD18_HUMAN	V	670	ENSP00000371710:A670V;ENSP00000425093:A670V;ENSP00000274170:A670V	.	A	-	2	0	CDH18	19509456	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.863000	0.99569	2.937000	0.99478	0.650000	0.86243	GCC		0.517	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		A	19473699	G	A	19473699	3	1	25	1	0	0	0	0	1	0	0	0	3105	1203	42	2	367	2	CDH18	5	19473699	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10		19473699	161441561	22	1783											
FBXO4	26272	hgsc.bcm.edu	37	5	41925546	41925546	+	Silent	SNP	T	T	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr5:41925546T>A	ENST00000281623.3	+	1	191	c.135T>A	c.(133-135)cgT>cgA	p.R45R	FBXO4_ENST00000296812.2_Silent_p.R45R|FBXO4_ENST00000509134.1_Silent_p.R45R	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	45					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GGGTGGCGCGTACGACCTCAC	0.741																																																0													8	8	8					5																	41925546		1807	3416	5223	SO:0001819	synonymous_variant	26272			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"F-boxes /  "other""	13583	protein-coding gene	gene with protein product		609090	"F-box only protein 4"			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.135T>A	chr5.hg19:g.41925546T>A			Q68CU8|Q86VT8|Q9UK98	Silent	SNP	ENST00000281623.3	hg19	CCDS3938.1																																																																																				0.741	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			A	41925546	T	A	41925546	2	1	25	1	0	0	0	0	0	0	0	1	5750	1625	57	5		5	FBXO4	5	41925546	Silent	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	22451847	41925546	138989714	23	1784											
NNT	23530	hgsc.bcm.edu	37	5	43628360	43628360	+	Missense_Mutation	SNP	A	A	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr5:43628360A>C	ENST00000264663.5	+	7	1056	c.835A>C	c.(835-837)Aag>Cag	p.K279Q	NNT_ENST00000512996.2_Missense_Mutation_p.K148Q|NNT_ENST00000344920.4_Missense_Mutation_p.K279Q	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	279					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GGTGGACTTGAAGGAATCTGG	0.448																																																0													123	117	119					5																	43628360		2203	4300	6503	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.835A>C	chr5.hg19:g.43628360A>C	ENSP00000264663:p.Lys279Gln		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	hg19	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175032	0.38413	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.83163	-1.69;-1.69;-1.69	5.91	5.91	0.95273	Alanine dehydrogenase/PNT, C-terminal (1);	0.086607	0.85682	D	0.000000	T	0.72431	0.3459	N	0.17922	0.545	0.58432	D	0.999995	B	0.14805	0.011	B	0.23150	0.044	T	0.67280	-0.5710	10	0.10902	T	0.67	-15.1084	16.3432	0.83101	1.0:0.0:0.0:0.0	.	279	Q13423	NNTM_HUMAN	Q	279;279;148	ENSP00000264663:K279Q;ENSP00000343873:K279Q;ENSP00000426343:K148Q	ENSP00000264663:K279Q	K	+	1	0	NNT	43664117	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.413000	0.52686	2.263000	0.75096	0.377000	0.23210	AAG		0.448	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		C	43628360	A	C	43628360	3	2	25	1	0	0	0	0	1	0	0	0	10512	247	9	5	857	5	NNT	5	43628360	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	1702814	43628360	137286900	24	1785											
PELO	53918	hgsc.bcm.edu	37	5	52096713	52096713	+	Missense_Mutation	SNP	A	A	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr5:52096713A>G	ENST00000274311.2	+	2	1470	c.485A>G	c.(484-486)aAg>aGg	p.K162R	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	162					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				ACTCGGGCCAAGGTGGAGGTG	0.587																																																0													83	74	77					5																	52096713		2203	4300	6503	SO:0001583	missense	53918				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.485A>G	chr5.hg19:g.52096713A>G	ENSP00000274311:p.Lys162Arg		Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	hg19	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	A	7.663	0.685319	0.14973	.	.	ENSG00000152684	ENST00000274311	T	0.44482	0.92	5.4	4.21	0.49690	eRF1 domain 2 (1);	0.000000	0.85682	U	0.000000	T	0.32041	0.0816	L	0.36672	1.1	0.80722	D	1	B	0.24721	0.11	B	0.29353	0.101	T	0.05616	-1.0874	10	0.14252	T	0.57	-18.997	11.3444	0.49552	0.8638:0.0:0.0:0.1362	.	162	Q9BRX2	PELO_HUMAN	R	162	ENSP00000274311:K162R	ENSP00000274311:K162R	K	+	2	0	PELO	52132470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.187000	0.89708	1.014000	0.39417	0.460000	0.39030	AAG		0.587	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		G	52096713	A	G	52096713	3	3	25	1	0	0	0	0	1	0	0	0	11726	72	3	3	487	3	PELO	5	52096713	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	8468353	52096713	128818547	25	1786											
DMXL1	1657	hgsc.bcm.edu	37	5	118582763	118582763	+	Missense_Mutation	SNP	A	A	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr5:118582763A>C	ENST00000311085.8	+	43	9013	c.8933A>C	c.(8932-8934)aAt>aCt	p.N2978T	DMXL1_ENST00000539542.1_Missense_Mutation_p.N2999T|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2978										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTTTTAGAAATATTGGAACT	0.403																																																0													107	106	106					5																	118582763		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8933A>C	chr5.hg19:g.118582763A>C	ENSP00000309690:p.Asn2978Thr			Missense_Mutation	SNP	ENST00000311085.8	hg19	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675682	0.67928	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10860	2.84;2.83	5.82	5.82	0.92795	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	L	0.60845	1.875	0.80722	D	1	P;P	0.36144	0.48;0.539	B;B	0.34722	0.188;0.093	T	0.01413	-1.1361	10	0.44086	T	0.13	-26.4503	16.1802	0.81892	1.0:0.0:0.0:0.0	.	2999;2978	F5H269;Q9Y485	.;DMXL1_HUMAN	T	2978;2999	ENSP00000309690:N2978T;ENSP00000439479:N2999T	ENSP00000309690:N2978T	N	+	2	0	DMXL1	118610662	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.957000	0.93082	2.220000	0.72140	0.533000	0.62120	AAT		0.403	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		C	118582763	A	C	118582763	3	2	25	1	0	0	0	0	1	0	0	0	4596	101	4	5	9103	5	DMXL1	5	118582763	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	66486050	118582763	62332497	26	1787											
ATXN1	6310	hgsc.bcm.edu	37	6	16327888	16327888	+	Missense_Mutation	SNP	C	C	A	rs573371188	byFrequency	TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr6:16327888C>A	ENST00000244769.4	-	8	1590	c.654G>T	c.(652-654)caG>caT	p.Q218H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q218H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	218	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.657													-|||	5	0.000998403	0.0	0.0	5008	,	,		12853	0.003		0.002	False		,,,				2504	0.0															0													5	8	7					6																	16327888		1257	2848	4105	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.654G>T	chr6.hg19:g.16327888C>A	ENSP00000244769:p.Gln218His		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	hg19	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	-	6.816	0.519699	0.13005	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.37752	1.18;1.18	0.86	0.86	0.19042	.	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B	0.28713	0.22	B	0.17979	0.02	T	0.28490	-1.0042	9	0.40728	T	0.16	.	3.149	0.06481	0.0:0.6895:0.0:0.3104	.	218	P54253	ATX1_HUMAN	H	218	ENSP00000244769:Q218H;ENSP00000416360:Q218H	ENSP00000244769:Q218H	Q	-	3	2	ATXN1	16435867	0.092000	0.21681	0.008000	0.14137	0.146000	0.21551	0.245000	0.18142	0.726000	0.32339	0.205000	0.17691	CAG		0.657	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		A	16327888	C	A	16327888	3	1	25	1	0	0	0	0	1	0	0	0	1209	796	28	4	1801	4	ATXN1	6	16327888	Missense_Mutation	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10		16327888	154787179	27	1788											
FLOT1	10211	hgsc.bcm.edu	37	6	30698809	30698809	+	Missense_Mutation	SNP	C	C	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr6:30698809C>G	ENST00000376389.3	-	9	1012	c.792G>C	c.(790-792)caG>caC	p.Q264H	FLOT1_ENST00000456573.2_Missense_Mutation_p.Q216H	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	243					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	GCACTGCCACCTGCTGGGCCC	0.667																																																0													55	62	60					6																	30698809		2203	4300	6503	SO:0001583	missense	10211			AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.792G>C	chr6.hg19:g.30698809C>G	ENSP00000365569:p.Gln264His		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000376389.3	hg19	CCDS4688.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552759	0.86127	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165	T;T	0.37584	1.24;1.19	4.5	3.63	0.41609	.	0.132901	0.52532	D	0.000065	T	0.51109	0.1655	M	0.90650	3.135	0.48830	D	0.999717	D;D	0.61080	0.98;0.989	P;P	0.58577	0.841;0.841	T	0.60021	-0.7344	10	0.87932	D	0	-12.4051	10.3081	0.43693	0.0:0.9015:0.0:0.0985	.	216;264	B4DVY7;O75955	.;FLOT1_HUMAN	H	264;216;201	ENSP00000365569:Q264H;ENSP00000394375:Q216H	ENSP00000365569:Q264H	Q	-	3	2	FLOT1	30806788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.475000	0.60210	2.511000	0.84671	0.650000	0.86243	CAG		0.667	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2			G	30698809	C	G	30698809	3	3	25	1	0	0	0	0	1	0	0	0	5938	680	24	4	511	4	FLOT1	6	30698809	Missense_Mutation	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	14370921	30698809	140416258	28	1789											
KIAA0240	23506	hgsc.bcm.edu	37	6	42790539	42790539	+	Missense_Mutation	SNP	C	C	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr6:42790539C>T	ENST00000314073.5	+	4	223	c.47C>T	c.(46-48)cCa>cTa	p.P16L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P16L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	16																	TCTAGAGACCCACAAGCATTG	0.279																																																0													86	86	86					6																	42790539		2202	4299	6501	SO:0001583	missense	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.47C>T	chr6.hg19:g.42790539C>T	ENSP00000313933:p.Pro16Leu		A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	hg19	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299089	0.81025	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.61742	0.08;0.08	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000003	T	0.61702	0.2368	L	0.55481	1.735	0.58432	D	0.999995	P;D;D	0.56287	0.75;0.975;0.975	B;P;P	0.53861	0.235;0.736;0.672	T	0.62676	-0.6804	10	0.59425	D	0.04	-14.1586	20.1224	0.97967	0.0:1.0:0.0:0.0	.	16;16;16	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	L	16	ENSP00000313933:P16L;ENSP00000377723:P16L	ENSP00000313933:P16L	P	+	2	0	KIAA0240	42898517	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.714000	0.61902	2.749000	0.94314	0.650000	0.86243	CCA		0.279	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		T	42790539	C	T	42790539	3	4	25	1	0	0	0	0	1	0	0	0	8166	594	21	2	53	2	KIAA0240	6	42790539	Missense_Mutation	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	12091730	42790539	128324528	29	1790											
UBE2CBP	90025	hgsc.bcm.edu	37	6	83767689	83767689	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr6:83767689G>A	ENST00000369747.3	-	2	252	c.130C>T	c.(130-132)Ctc>Ttc	p.L44F		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	44					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										TTCATCTGGAGTGAAGATGGC	0.428											OREG0017549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													70	66	67					6																	83767689		2203	4300	6503	SO:0001583	missense	90025			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.130C>T	chr6.hg19:g.83767689G>A	ENSP00000358762:p.Leu44Phe	1224	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	hg19	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538080	0.45176	.	.	ENSG00000118420	ENST00000369747	T	0.33216	1.42	5.31	1.32	0.21799	.	0.204209	0.42964	N	0.000627	T	0.29491	0.0735	M	0.69823	2.125	0.23913	N	0.99649	D;D	0.76494	0.999;0.999	D;D	0.77557	0.986;0.99	T	0.09079	-1.0691	10	0.62326	D	0.03	-3.8166	2.1836	0.03880	0.1648:0.2847:0.4041:0.1463	.	44;44	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	F	44	ENSP00000358762:L44F	ENSP00000358762:L44F	L	-	1	0	UBE2CBP	83824408	0.084000	0.21492	0.016000	0.15963	0.011000	0.07611	0.531000	0.23052	0.338000	0.23692	0.650000	0.86243	CTC		0.428	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		A	83767689	G	A	83767689	3	1	25	1	0	0	0	0	1	0	0	0	16852	1029	36	2	1075	2	UBE2CBP	6	83767689	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	40977150	83767689	87347378	30	1791											
GJA10	84694	hgsc.bcm.edu	37	6	90604946	90604946	+	Silent	SNP	T	T	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr6:90604946T>C	ENST00000369352.1	+	1	759	c.759T>C	c.(757-759)gaT>gaC	p.D253D		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	253					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCATTGAGGATGAAACAGGCC	0.393																																																0													88	82	84					6																	90604946		2203	4300	6503	SO:0001819	synonymous_variant	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.759T>C	chr6.hg19:g.90604946T>C			B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000369352.1	hg19	CCDS5025.1																																																																																				0.393	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		C	90604946	T	C	90604946	2	2	25	1	0	0	0	0	0	0	0	1	6403	1461	51	3		3	GJA10	6	90604946	Silent	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	6837257	90604946	80510121	31	1792											
EPM2A	7957	hgsc.bcm.edu	37	6	145948580	145948580	+	Missense_Mutation	SNP	T	T	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr6:145948580T>C	ENST00000367519.3	-	4	1493	c.968A>G	c.(967-969)aAg>aGg	p.K323R		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	323					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		AGAACGAACCTTCCCAAATTT	0.517																																																0													101	109	107					6																	145948580		2203	4300	6503	SO:0001583	missense	7957			AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3413	protein-coding gene	gene with protein product		607566	"epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.968A>G	chr6.hg19:g.145948580T>C	ENSP00000356489:p.Lys323Arg		B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	ENST00000367519.3	hg19	CCDS5206.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.515139	0.27123	.	.	ENSG00000112425	ENST00000367519;ENST00000324857	D	0.95756	-3.8	5.89	5.89	0.94794	.	0.324340	0.38326	N	0.001727	D	0.87362	0.6158	L	0.38531	1.155	0.29866	N	0.827263	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.79174	-0.1912	10	0.31617	T	0.26	-26.7267	13.1249	0.59349	0.0:0.0:0.1994:0.8006	.	323;185	O95278;E1P599	EPM2A_HUMAN;.	R	323	ENSP00000356489:K323R	ENSP00000320279:K323R	K	-	2	0	EPM2A	145990273	0.998000	0.40836	0.950000	0.38849	0.698000	0.40448	2.545000	0.45769	2.257000	0.74773	0.460000	0.39030	AAG		0.517	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1			C	145948580	T	C	145948580	3	2	25	1	0	0	0	0	1	0	0	0	5185	1609	56	3	65	3	EPM2A	6	145948580	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	55343634	145948580	25166487	32	1793											
MEOX2	4223	hgsc.bcm.edu	37	7	15725803	15725803	+	Silent	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr7:15725803G>A	ENST00000262041.5	-	1	634	c.225C>T	c.(223-225)caC>caT	p.H75H	AC005550.4_ENST00000442176.1_lincRNA|AC005550.5_ENST00000438923.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	75	Poly-His.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ggtgatggtggtggtggtggt	0.602																																					Esophageal Squamous(140;197 1769 16409 18257 29929)											0													21	22	22					7																	15725803		2203	4299	6502	SO:0001819	synonymous_variant	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.225C>T	chr7.hg19:g.15725803G>A			B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	hg19	CCDS34605.1																																																																																				0.602	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		A	15725803	G	A	15725803	2	1	25	1	0	0	0	0	0	0	0	1	9476	1252	44	2		2	MEOX2	7	15725803	Silent	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10		15725803	143412860	33	1794											
PLEKHA8	84725	hgsc.bcm.edu	37	7	30092325	30092325	+	Splice_Site	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr7:30092325G>A	ENST00000449726.1	+	7	989	c.639G>A	c.(637-639)agG>agA	p.R213R	PLEKHA8_ENST00000396257.2_Splice_Site_p.R213R|PLEKHA8_ENST00000258679.7_Splice_Site_p.R213R|PLEKHA8_ENST00000396259.1_Splice_Site_p.R213R	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	213					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.?(1)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AAATTTGCAGGCAAATGGAGT	0.318																																																1	Unknown(1)	breast(1)											25	27	27					7																	30092325		2189	4291	6480	SO:0001630	splice_region_variant	84725			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.639-1G>A	chr7.hg19:g.30092325G>A			B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	hg19	CCDS56473.1																																																																																				0.318	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639	Silent	A	30092325	G	A	30092325	5	1	25	1	0	0	0	0	0	0	1	0	12064	1217	42	2	665	2	PLEKHA8	7	30092325	Splice_Site	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	14366522	30092325	129046338	34	1795											
NPC1L1	29881	hgsc.bcm.edu	37	7	44560616	44560616	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr7:44560616G>A	ENST00000289547.4	-	13	3110	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	NPC1L1_ENST00000546276.1_Missense_Mutation_p.R973W|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R1019W	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1019					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATGTTGGGCCGGTCGTTCAGG	0.542																																																0													159	163	162					7																	44560616		2203	4300	6503	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3055C>T	chr7.hg19:g.44560616G>A	ENSP00000289547:p.Arg1019Trp		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	hg19	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	G	8.430	0.848378	0.17034	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93488	-3.11;-3.12;-3.23	5.35	-4.42	0.03579	.	2.832230	0.01137	N	0.006105	D	0.87842	0.6279	N	0.24115	0.695	0.09310	N	1	P;P;D;D	0.69078	0.93;0.865;0.994;0.997	P;B;B;P	0.46452	0.489;0.133;0.409;0.517	T	0.80518	-0.1347	10	0.66056	D	0.02	-1.1573	3.5307	0.07775	0.1295:0.4695:0.1562:0.2448	.	973;1019;1019;1019	B7ZLE6;Q17RV5;D3DVK9;Q9UHC9	.;.;.;NPCL1_HUMAN	W	1019;1019;973	ENSP00000289547:R1019W;ENSP00000370552:R1019W;ENSP00000438033:R973W	ENSP00000289547:R1019W	R	-	1	2	NPC1L1	44527141	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.366000	0.07563	-0.360000	0.08138	0.650000	0.86243	CGG		0.542	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		A	44560616	G	A	44560616	3	1	25	1	0	0	0	0	1	0	0	0	10573	1115	39	1	1056	1	NPC1L1	7	44560616	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	14468291	44560616	114578047	35	1796											
DMTF1	9988	hgsc.bcm.edu	37	7	86813800	86813800	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr7:86813800G>A	ENST00000394703.5	+	13	1471	c.908G>A	c.(907-909)gGt>gAt	p.G303D	DMTF1_ENST00000414194.2_Missense_Mutation_p.G37D|DMTF1_ENST00000413276.2_Missense_Mutation_p.G303D|DMTF1_ENST00000331242.7_Missense_Mutation_p.G303D|DMTF1_ENST00000432937.2_Missense_Mutation_p.G215D	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	303	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GTCACACAGGGTGTGTCTTGG	0.483																																																0													94	76	82					7																	86813800		2203	4300	6503	SO:0001583	missense	9988			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.908G>A	chr7.hg19:g.86813800G>A	ENSP00000378193:p.Gly303Asp		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	hg19	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056379	0.93793	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	6.17	6.17	0.99709	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.65749	0.2721	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58691	-0.7592	10	0.33940	T	0.23	-11.4511	19.8676	0.96824	0.0:0.0:1.0:0.0	.	303	Q9Y222	DMTF1_HUMAN	D	303;303;215;303;37	ENSP00000332171:G303D;ENSP00000402627:G303D;ENSP00000412532:G215D;ENSP00000378193:G303D;ENSP00000415910:G37D	ENSP00000332171:G303D	G	+	2	0	DMTF1	86651736	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.624000	0.98398	2.941000	0.99782	0.655000	0.94253	GGT		0.483	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		A	86813800	G	A	86813800	3	1	25	1	0	0	0	0	1	0	0	0	4594	1261	44	2	942	2	DMTF1	7	86813800	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	42253184	86813800	72324863	36	1797											
HEPACAM2	253012	hgsc.bcm.edu	37	7	92821636	92821636	+	Missense_Mutation	SNP	C	C	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr7:92821636C>A	ENST00000394468.2	-	9	1393	c.1316G>T	c.(1315-1317)gGg>gTg	p.G439V	HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.G462V|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.G427V|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G419C	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	439					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CAAATCTTGCCCCGATACACA	0.403																																																0													137	121	126					7																	92821636		2203	4300	6503	SO:0001583	missense	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1316G>T	chr7.hg19:g.92821636C>A	ENSP00000377980:p.Gly439Val		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	hg19	CCDS43616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.036754|2.036754	0.35893|0.35893	.|.	.|.	ENSG00000188175|ENSG00000188175	ENST00000440868|ENST00000394468;ENST00000341723;ENST00000453812	T|T;T;T	0.62941|0.53206	-0.01|0.65;0.67;0.63	4.55|4.55	3.64|3.64	0.41730|0.41730	.|.	0.328676|0.328676	0.31859|0.31859	N|N	0.006945|0.006945	T|T	0.47655|0.47655	0.1457|0.1457	N|N	0.19112|0.19112	0.55|0.55	0.53688|0.53688	D|D	0.999979|0.999979	P|D;P;P	0.50710|0.64830	0.938|0.994;0.802;0.875	B|P;P;P	0.42882|0.59115	0.401|0.852;0.481;0.68	T|T	0.49082|0.49082	-0.8976|-0.8976	10|10	0.38643|0.48119	T|T	0.18|0.1	-7.8122|-7.8122	13.1162|13.1162	0.59301|0.59301	0.0:0.8391:0.1609:0.0|0.0:0.8391:0.1609:0.0	.|.	419|462;439;427	C9JN07|E9PDV5;A8MVW5;A8MVW5-2	.|.;HECA2_HUMAN;.	C|V	419|439;427;462	ENSP00000389592:G419C|ENSP00000377980:G439V;ENSP00000340532:G427V;ENSP00000390204:G462V	ENSP00000389592:G419C|ENSP00000340532:G427V	G|G	-|-	1|2	0|0	HEPACAM2|HEPACAM2	92659572|92659572	0.998000|0.998000	0.40836|0.40836	0.549000|0.549000	0.28204|0.28204	0.003000|0.003000	0.03518|0.03518	1.524000|1.524000	0.35942|0.35942	1.214000|1.214000	0.43395|0.43395	0.563000|0.563000	0.77884|0.77884	GGC|GGG		0.403	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		A	92821636	C	A	92821636	3	1	25	1	0	0	0	0	1	0	0	0	7055	623	22	4	80	4	HEPACAM2	7	92821636	Missense_Mutation	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	6007836	92821636	66317027	37	1798											
GPC2	221914	hgsc.bcm.edu	37	7	99768943	99768943	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr7:99768943G>T	ENST00000292377.2	-	9	1594	c.1427C>A	c.(1426-1428)gCg>gAg	p.A476E	GPC2_ENST00000471050.1_5'UTR|GAL3ST4_ENST00000360039.4_5'Flank|GAL3ST4_ENST00000423751.1_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	476					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCGTGGCCGCCCGGAGCTG	0.721																																																0													8	10	9					7																	99768943		2101	4142	6243	SO:0001583	missense	221914			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.1427C>A	chr7.hg19:g.99768943G>T	ENSP00000292377:p.Ala476Glu		A4D2A7	Missense_Mutation	SNP	ENST00000292377.2	hg19	CCDS5689.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116661	0.56505	.	.	ENSG00000213420	ENST00000292377	T	0.49139	0.79	4.26	4.26	0.50523	.	0.369108	0.25316	N	0.031543	T	0.45377	0.1339	L	0.46741	1.465	0.25189	N	0.99014	D	0.54772	0.968	P	0.54664	0.758	T	0.34875	-0.9811	10	0.05959	T	0.93	-20.9711	8.1197	0.30963	0.1128:0.0:0.8872:0.0	.	476	Q8N158	GPC2_HUMAN	E	476	ENSP00000292377:A476E	ENSP00000292377:A476E	A	-	2	0	GPC2	99606879	0.262000	0.24073	0.280000	0.24747	0.630000	0.37929	1.545000	0.36169	1.919000	0.55581	0.313000	0.20887	GCG		0.721	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		T	99768943	G	T	99768943	3	4	25	1	0	0	0	0	1	0	0	0	6600	1087	38	4	320	4	GPC2	7	99768943	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	6947307	99768943	59369720	38	1799											
PLOD3	8985	hgsc.bcm.edu	37	7	100855146	100855146	+	Missense_Mutation	SNP	T	T	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr7:100855146T>C	ENST00000223127.3	-	11	1611	c.1213A>G	c.(1213-1215)Atc>Gtc	p.I405V		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	405					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCAATGAGGATACGCAGGGTC	0.667																																																0													40	36	37					7																	100855146		2203	4300	6503	SO:0001583	missense	8985			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1213A>G	chr7.hg19:g.100855146T>C	ENSP00000223127:p.Ile405Val		B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	hg19	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	T	5.673	0.308822	0.10733	.	.	ENSG00000106397	ENST00000223127	D	0.84730	-1.89	4.26	1.62	0.23740	.	0.294746	0.29853	N	0.011034	T	0.75421	0.3847	L	0.45698	1.435	0.23519	N	0.997508	B	0.02656	0.0	B	0.08055	0.003	T	0.57780	-0.7752	10	0.23302	T	0.38	-13.9258	5.6522	0.17622	0.0:0.0967:0.1704:0.7329	.	405	O60568	PLOD3_HUMAN	V	405	ENSP00000223127:I405V	ENSP00000223127:I405V	I	-	1	0	PLOD3	100641866	0.023000	0.18921	0.983000	0.44433	0.250000	0.25880	0.019000	0.13444	0.046000	0.15833	0.374000	0.22700	ATC		0.667	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			C	100855146	T	C	100855146	3	2	25	1	0	0	0	0	1	0	0	0	12105	1406	49	3	1039	3	PLOD3	7	100855146	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	1086203	100855146	58283517	39	1800											
NAPEPLD	222236	hgsc.bcm.edu	37	7	102760435	102760435	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr7:102760435G>A	ENST00000417955.1	-	3	684	c.530C>T	c.(529-531)cCa>cTa	p.P177L	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.P177L|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.P177L|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.P177L|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.P250L			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	177					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGCATCTATTGGAGGGAGTTC	0.458																																																0													222	205	211					7																	102760435		2203	4300	6503	SO:0001583	missense	222236			BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.530C>T	chr7.hg19:g.102760435G>A	ENSP00000407112:p.Pro177Leu		Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	hg19	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398813	0.42512	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15	5.93	-5.61	0.02489	.	0.892883	0.10026	N	0.725409	D	0.92857	0.7728	M	0.62088	1.915	0.09310	N	1	P;B	0.34562	0.457;0.091	B;B	0.36030	0.216;0.102	D	0.86063	0.1533	10	0.44086	T	0.13	-10.4644	5.9653	0.19322	0.0653:0.381:0.139:0.4147	.	250;177	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	L	177;177;177;177;250	ENSP00000340093:P177L;ENSP00000407112:P177L;ENSP00000419188:P177L;ENSP00000392775:P177L;ENSP00000414364:P250L	ENSP00000340093:P177L	P	-	2	0	NAPEPLD	102547671	0.000000	0.05858	0.001000	0.08648	0.773000	0.43773	-0.455000	0.06762	-0.678000	0.05224	-0.282000	0.10007	CCA		0.458	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		A	102760435	G	A	102760435	3	1	25	1	0	0	0	0	1	0	0	0	10165	1348	47	2	663	2	NAPEPLD	7	102760435	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	1905289	102760435	56378228	40	1801											
PAXIP1	22976	hgsc.bcm.edu	37	7	154738247	154738247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr7:154738247G>T	ENST00000404141.1	-	19	3262	c.3108C>A	c.(3106-3108)tgC>tgA	p.C1036*	PAXIP1_ENST00000397192.1_Nonsense_Mutation_p.C1036*|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1036	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AATATTCTCGGCATAAATGAA	0.413																																																0													66	64	65					7																	154738247		1893	4119	6012	SO:0001587	stop_gained	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.3108C>A	chr7.hg19:g.154738247G>T	ENSP00000384048:p.Cys1036*		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Nonsense_Mutation	SNP	ENST00000404141.1	hg19	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	39	7.444800	0.98289	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	.	.	.	5.34	-0.931	0.10438	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.841	13.5779	0.61885	0.418:0.0:0.582:0.0	.	.	.	.	X	1036;1036;860;989	.	ENSP00000319149:C989X	C	-	3	2	PAXIP1	154369180	0.998000	0.40836	0.504000	0.27639	0.641000	0.38312	0.608000	0.24223	-0.428000	0.07339	-0.378000	0.06908	TGC		0.413	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		T	154738247	G	T	154738247	4	4	25	1	0	0	0	0	0	1	0	0	11489	1195	42	4	113	4	PAXIP1	7	154738247	Nonsense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	51977812	154738247	4400416	41	1802											
ARHGEF10	9639	hgsc.bcm.edu	37	8	1814770	1814770	+	Splice_Site	SNP	T	T	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr8:1814770T>G	ENST00000398564.1	+	6	697		c.e6+2		ARHGEF10_ENST00000520359.1_Splice_Site|ARHGEF10_ENST00000398560.1_Splice_Site|ARHGEF10_ENST00000262112.6_Splice_Site|ARHGEF10_ENST00000518288.1_Splice_Site|ARHGEF10_ENST00000349830.3_Splice_Site			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10						centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GGATGGAGAGTAAGTTCCCCA	0.577																																																0													78	86	83					8																	1814770		2203	4300	6503	SO:0001630	splice_region_variant	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.697+2T>G	chr8.hg19:g.1814770T>G			O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Splice_Site	SNP	ENST00000398564.1	hg19		.	.	.	.	.	.	.	.	.	.	T	21.5	4.162508	0.78226	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1393	0.72599	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF10	1802177	1.000000	0.71417	0.968000	0.41197	0.818000	0.46254	5.561000	0.67339	2.029000	0.59856	0.477000	0.44152	.		0.577	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			Intron	G	1814770	T	G	1814770	5	3	25	1	0	0	0	0	0	0	1	0	894	1652	57	5	642	5	ARHGEF10	8	1814770	Splice_Site	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10		1814770	144549252	42	1803											
MYOM2	9172	hgsc.bcm.edu	37	8	1998968	1998968	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr8:1998968G>A	ENST00000262113.4	+	2	229	c.88G>A	c.(88-90)Gac>Aac	p.D30N	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	30					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTACCTGCTGGACGAATATGC	0.488																																																0													111	84	93					8																	1998968		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.88G>A	chr8.hg19:g.1998968G>A	ENSP00000262113:p.Asp30Asn		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	hg19	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070617	0.20147	.	.	ENSG00000036448	ENST00000262113	T	0.50548	0.74	5.78	-3.17	0.05202	.	0.876047	0.10049	N	0.722425	T	0.36386	0.0965	L	0.57536	1.79	0.09310	N	0.999996	B	0.09022	0.002	B	0.06405	0.002	T	0.35992	-0.9766	10	0.40728	T	0.16	.	4.5719	0.12214	0.2464:0.1783:0.4935:0.0818	.	30	P54296	MYOM2_HUMAN	N	30	ENSP00000262113:D30N	ENSP00000262113:D30N	D	+	1	0	MYOM2	1986375	1.000000	0.71417	0.005000	0.12908	0.069000	0.16628	1.006000	0.29847	-0.172000	0.10779	0.563000	0.77884	GAC		0.488	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	1998968	G	A	1998968	3	1	25	1	0	0	0	0	1	0	0	0	10094	1174	41	2	90	2	MYOM2	8	1998968	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	184198	1998968	144365054	43	1804											
AP3M2	10947	hgsc.bcm.edu	37	8	42012262	42012262	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr8:42012262T>G	ENST00000518421.1	+	3	348	c.57T>G	c.(55-57)caT>caG	p.H19Q	AP3M2_ENST00000520685.1_Intron|RP11-589C21.5_ENST00000564481.1_RNA|AP3M2_ENST00000517922.1_Missense_Mutation_p.H19Q|AP3M2_ENST00000396926.3_Missense_Mutation_p.H19Q|AP3M2_ENST00000174653.3_Missense_Mutation_p.H19Q	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	19					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGGAGAAACATTGGAAAAGTG	0.453																																																0													80	79	80					8																	42012262		2203	4300	6503	SO:0001583	missense	10947			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.57T>G	chr8.hg19:g.42012262T>G	ENSP00000428787:p.His19Gln		B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	hg19	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510545	0.64522	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000522288;ENST00000517922	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.98	5.36	-1.64	0.08318	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.81143	0.4761	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77351	-0.2620	10	0.51188	T	0.08	-21.5389	11.0086	0.47649	0.0:0.6489:0.0:0.3511	.	19;19	E7ER80;P53677	.;AP3M2_HUMAN	Q	19	ENSP00000428787:H19Q;ENSP00000174653:H19Q;ENSP00000380132:H19Q;ENSP00000429435:H19Q	ENSP00000174653:H19Q	H	+	3	2	AP3M2	42131419	0.970000	0.33590	0.966000	0.40874	0.990000	0.78478	0.183000	0.16919	-0.697000	0.05092	-0.239000	0.12128	CAT		0.453	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			G	42012262	T	G	42012262	3	3	25	1	0	0	0	0	1	0	0	0	748	1490	52	5	59	5	AP3M2	8	42012262	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	40013294	42012262	104351760	44	1805											
TRPA1	8989	hgsc.bcm.edu	37	8	72987583	72987583	+	Missense_Mutation	SNP	A	A	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr8:72987583A>G	ENST00000262209.4	-	1	269	c.62T>C	c.(61-63)gTc>gCc	p.V21A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	21					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATCCTCATAGACAACGCCCTG	0.637																																																0													101	104	103					8																	72987583		2203	4300	6503	SO:0001583	missense	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.62T>C	chr8.hg19:g.72987583A>G	ENSP00000262209:p.Val21Ala		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	hg19	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019798	0.07634	.	.	ENSG00000104321	ENST00000262209	T	0.41758	0.99	4.58	-1.05	0.10036	.	0.559178	0.19035	N	0.124452	T	0.24431	0.0592	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16158	-1.0412	10	0.13108	T	0.6	-0.0577	0.093	0.00041	0.3267:0.1568:0.2116:0.3049	.	21	O75762	TRPA1_HUMAN	A	21	ENSP00000262209:V21A	ENSP00000262209:V21A	V	-	2	0	TRPA1	73150137	0.004000	0.15560	0.004000	0.12327	0.007000	0.05969	-0.206000	0.09398	-0.240000	0.09696	0.482000	0.46254	GTC		0.637	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		G	72987583	A	G	72987583	3	3	25	1	0	0	0	0	1	0	0	0	16582	275	10	3	3405	3	TRPA1	8	72987583	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	30975321	72987583	73376439	45	1806											
ZFHX4	79776	hgsc.bcm.edu	37	8	77776566	77776571	+	In_Frame_Del	DEL	CTTCTC	CTTCTC	-			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	CTTCTC	CTTCTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr8:77776566_77776571delCTTCTC	ENST00000521891.2	+	11	11064_11069	c.10616_10621delCTTCTC	c.(10615-10623)gcttctccc>gcc	p.SP3540del	ZFHX4_ENST00000518282.1_In_Frame_Del_p.SP3514del|ZFHX4_ENST00000050961.6_In_Frame_Del_p.SP3491del|ZFHX4_ENST00000455469.2_In_Frame_Del_p.SP3495del	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGAGAGCTGCTTCTCCCCCTTCTTC	0.49										HNSCC(33;0.089)																																						0																																										SO:0001651	inframe_deletion	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10616_10621delCTTCTC	chr8.hg19:g.77776566_77776571delCTTCTC	ENSP00000430497:p.Ser3540_Pro3541del		G3V138|Q18PS0|Q6ZN20	In_Frame_Del	DEL	ENST00000521891.2	hg19	CCDS47878.2																																																																																				0.49	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		-	77776571	CTTCTC	-	77776566	7	5	25	1	0	1	0	1	0	0	0	0	17640	797	28	0	10654	0	ZFHX4	8	77776566	In_Frame_Del	DEL	CTTCTC	TCGA-4A-A93X-01A-11D-A36X-10	4788983	77776566	68587456	46	1807											
C9orf106	414318	hgsc.bcm.edu	37	9	132084554	132084554	+	RNA	SNP	C	C	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr9:132084554C>T	ENST00000316786.1	+	0	515							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				ACCACGTTTCCCCAGCACATC	0.612																																																0													47	49	49					9																	132084554		2012	4166	6178			414318			AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		chr9.hg19:g.132084554C>T				Silent	SNP	ENST00000316786.1	hg19																																																																																					0.612	C9orf106-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054576.2			T	132084554	C	T	132084554	1	4	25	0	1	0	0	0	0	0	0	0	2449	610	22	2		2	C9orf106	9	132084554	RNA	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10		132084554	9128877	47	1808											
TSC1	7248	hgsc.bcm.edu	37	9	135804182	135804183	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr9:135804182_135804183delTG	ENST00000298552.3	-	3	298_299	c.77_78delCA	c.(76-78)acafs	p.T26fs	TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Frame_Shift_Del_p.T26fs|TSC1_ENST00000545250.1_Frame_Shift_Del_p.T26fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.T26fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	26					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAAAGACAGCTGTCACGTCGTC	0.475			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	0																																										SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.77_78delCA	chr9.hg19:g.135804182_135804183delTG	ENSP00000298552:p.Thr26fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	hg19	CCDS6956.1																																																																																				0.475	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			-	135804183	TG	-	135804182	7	5	25	1	0	1	0	1	0	0	0	0	16610	1567	55	0	3500	0	TSC1	9	135804182	Frame_Shift_Del	DEL	TG	TCGA-4A-A93X-01A-11D-A36X-10	3719628	135804182	5409249	48	1809											
KLF6	1316	hgsc.bcm.edu	37	10	3824256	3824257	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr10:3824256_3824257insA	ENST00000497571.1	-	2	512_513	c.252_253insT	c.(250-255)agtcctfs	p.P85fs	KLF6_ENST00000542957.1_Frame_Shift_Ins_p.P85fs|KLF6_ENST00000173785.4_5'Flank|KLF6_ENST00000469435.1_Frame_Shift_Ins_p.P85fs	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	85					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TCCTCTGGAGGACTGGAAGATA	0.485											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	1316			U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.253dupT	chr10.hg19:g.3824257_3824257dupA	ENSP00000419923:p.Pro85fs	614	B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Frame_Shift_Ins	INS	ENST00000497571.1	hg19	CCDS7060.1																																																																																				0.485	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			A	3824257	-	A	3824256	7	5	25	1	0	1	1	0	0	0	0	0	8352	1174	41	0	610	0	KLF6	10	3824256	Frame_Shift_Ins	INS	-	TCGA-4A-A93X-01A-11D-A36X-10		3824256	131710491	49	1810											
ARMC3	219681	hgsc.bcm.edu	37	10	23287144	23287145	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr10:23287144_23287145insT	ENST00000298032.5	+	11	1327_1328	c.1243_1244insT	c.(1243-1245)attfs	p.I415fs	ARMC3_ENST00000409049.3_Frame_Shift_Ins_p.I415fs|ARMC3_ENST00000376528.4_Frame_Shift_Ins_p.I152fs|ARMC3_ENST00000409983.3_Frame_Shift_Ins_p.I415fs|RNA5SP304_ENST00000411199.1_RNA	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	415						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATGGAGCCATTGCCAACGCT	0.46																																																0																																										SO:0001589	frameshift_variant	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1245dupT	chr10.hg19:g.23287146_23287146dupT	ENSP00000298032:p.Ile415fs		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Frame_Shift_Ins	INS	ENST00000298032.5	hg19	CCDS7142.1																																																																																				0.46	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		T	23287145	-	T	23287144	7	5	25	1	0	1	1	0	0	0	0	0	952	217	8	0	1281	0	ARMC3	10	23287144	Frame_Shift_Ins	INS	-	TCGA-4A-A93X-01A-11D-A36X-10	19462888	23287144	112247603	50	1811											
PGBD3	267004	hgsc.bcm.edu	37	10	50725003	50725003	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr10:50725003A>T	ENST00000374127.3	-	2	359	c.158T>A	c.(157-159)cTg>cAg	p.L53Q	PGBD3_ENST00000603152.1_Missense_Mutation_p.L521Q|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.L521Q|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.L521Q|PGBD3_ENST00000508005.2_Missense_Mutation_p.L53Q	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	53										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						AGAACCTGGCAGATTATTTAT	0.428																																																0													153	151	152					10																	50725003		2203	4300	6503	SO:0001583	missense	267004			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.158T>A	chr10.hg19:g.50725003A>T	ENSP00000363242:p.Leu53Gln		B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	hg19	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703019	0.68501	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.26373	1.74;1.74;2.72;2.72	0.468	0.468	0.16732	.	.	.	.	.	T	0.21631	0.0521	N	0.08118	0	0.22562	N	0.998986	D;D	0.58970	0.984;0.984	P;P	0.62435	0.902;0.902	T	0.23655	-1.0182	8	0.22109	T	0.4	-27.2962	.	.	.	.	521;53	E7EV46;Q8N328	.;PGBD3_HUMAN	Q	53;53;521;521	ENSP00000363242:L53Q;ENSP00000426963:L53Q;ENSP00000423550:L521Q;ENSP00000387966:L521Q	ENSP00000387966:L521Q	L	-	2	0	PGBD3;RP11-123B3.6	50395009	0.976000	0.34144	0.985000	0.45067	0.983000	0.72400	1.864000	0.39469	0.413000	0.25759	0.402000	0.26972	CTG		0.428	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			T	50725003	A	T	50725003	3	4	25	1	0	0	0	0	1	0	0	0	11784	188	7	5	1627	5	PGBD3	10	50725003	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	27437859	50725003	84809744	51	1812											
TMEM26	219623	hgsc.bcm.edu	37	10	63170397	63170397	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr10:63170397G>T	ENST00000399298.3	-	6	1158	c.790C>A	c.(790-792)Caa>Aaa	p.Q264K	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	264						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGGCCATCTTGTATGAAGACG	0.507																																																0													76	79	78					10																	63170397		2109	4237	6346	SO:0001583	missense	219623			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.790C>A	chr10.hg19:g.63170397G>T	ENSP00000382237:p.Gln264Lys		Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	hg19	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516645	0.96402	.	.	ENSG00000196932	ENST00000399298	.	.	.	6.17	6.17	0.99709	.	0.254374	0.41938	D	0.000784	D	0.85173	0.5636	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.85636	0.1273	9	0.87932	D	0	-16.2012	20.8794	0.99867	0.0:0.0:1.0:0.0	.	264	Q6ZUK4	TMM26_HUMAN	K	264	.	ENSP00000382237:Q264K	Q	-	1	0	TMEM26	62840403	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CAA		0.507	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		T	63170397	G	T	63170397	3	4	25	1	0	0	0	0	1	0	0	0	16156	1386	48	4	320	4	TMEM26	10	63170397	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	12445394	63170397	72364350	52	1813											
DLG5	9231	hgsc.bcm.edu	37	10	79579728	79579728	+	Missense_Mutation	SNP	C	C	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr10:79579728C>G	ENST00000372391.2	-	16	3456	c.3451G>C	c.(3451-3453)Gag>Cag	p.E1151Q	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.E811Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1151					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGTGCCCACTCCTGGAGCTCC	0.632																																																0													60	67	65					10																	79579728		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3451G>C	chr10.hg19:g.79579728C>G	ENSP00000361467:p.Glu1151Gln		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	hg19	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440688	0.63067	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.05139	3.56;3.49;3.71	5.73	5.73	0.89815	.	0.400058	0.18419	N	0.141810	T	0.11281	0.0275	L	0.27053	0.805	0.42181	D	0.991686	B;B;D	0.59357	0.116;0.215;0.985	B;B;P	0.53689	0.124;0.094;0.732	T	0.26643	-1.0097	10	0.29301	T	0.29	.	18.083	0.89447	0.0:1.0:0.0:0.0	.	1041;1151;811	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	Q	1151;112;811	ENSP00000361467:E1151Q;ENSP00000394797:E112Q;ENSP00000361464:E811Q	ENSP00000361464:E811Q	E	-	1	0	DLG5	79249734	1.000000	0.71417	0.999000	0.59377	0.161000	0.22273	5.585000	0.67497	2.722000	0.93159	0.655000	0.94253	GAG		0.632	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			G	79579728	C	G	79579728	3	3	25	1	0	0	0	0	1	0	0	0	4560	864	30	4	2376	4	DLG5	10	79579728	Missense_Mutation	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	16409331	79579728	55955019	53	1814											
C10orf28	27291	hgsc.bcm.edu	37	10	99968077	99968077	+	Missense_Mutation	SNP	G	G	C	rs373657280	byFrequency	TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr10:99968077G>C	ENST00000298999.3	+	5	509	c.206G>C	c.(205-207)cGa>cCa	p.R69P	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.R69P	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	69							nucleotide binding (GO:0000166)										CCGGAGGCTCGAAGACTAAAT	0.353																																																0													71	78	76					10																	99968077		2203	4299	6502	SO:0001583	missense	27291			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.206G>C	chr10.hg19:g.99968077G>C	ENSP00000298999:p.Arg69Pro		O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	hg19	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	G	0.274	-0.991016	0.02162	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.07800	3.16;3.16	5.81	0.746	0.18365	.	0.578419	0.16601	N	0.207353	T	0.02230	0.0069	N	0.00926	-1.1	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47736	-0.9094	9	.	.	.	0.9296	7.6295	0.28230	0.6631:0.2621:0.0748:0.0	.	69;69	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	P	69	ENSP00000359616:R69P;ENSP00000298999:R69P	.	R	+	2	0	C10orf28	99958067	0.046000	0.20272	0.000000	0.03702	0.003000	0.03518	0.453000	0.21811	-0.094000	0.12374	-2.142000	0.00338	CGA		0.353	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		C	99968077	G	C	99968077	3	2	25	1	0	0	0	0	1	0	0	0	1603	1058	37	4	208	4	C10orf28	10	99968077	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	20388349	99968077	35566670	54	1815											
C10orf137	26098	hgsc.bcm.edu	37	10	127411654	127411654	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr10:127411654A>T	ENST00000356792.4	+	3	567	c.335A>T	c.(334-336)gAc>gTc	p.D112V	C10orf137_ENST00000337623.3_Missense_Mutation_p.D112V	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATGGCATATGACTTTATTGAT	0.373																																																0													392	357	369					10																	127411654		2203	4300	6503	SO:0001583	missense	26098																														ENST00000356792.4:c.335A>T	chr10.hg19:g.127411654A>T	ENSP00000349244:p.Asp112Val		B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	hg19	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.163705	0.38217	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	5.7	4.57	0.56435	.	0.091287	0.85682	D	0.000000	T	0.52322	0.1727	L	0.36672	1.1	0.80722	D	1	P;P;P	0.50272	0.933;0.933;0.933	P;P;P	0.52957	0.542;0.714;0.542	T	0.44345	-0.9334	9	0.30078	T	0.28	.	11.7725	0.51967	0.9311:0.0:0.0689:0.0	.	112;112;112	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	V	112	.	ENSP00000336727:D112V	D	+	2	0	C10orf137	127401644	1.000000	0.71417	0.998000	0.56505	0.375000	0.29983	6.824000	0.75288	0.988000	0.38734	-0.274000	0.10170	GAC		0.373	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			T	127411654	A	T	127411654	3	4	25	1	0	0	0	0	1	0	0	0	1596	275	10	5	345	5	C10orf137	10	127411654	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	27443577	127411654	8123093	55	1816											
TMEM132A	54972	hgsc.bcm.edu	37	11	60703543	60703543	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr11:60703543G>T	ENST00000453848.2	+	11	2394	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*	TMEM132A_ENST00000005286.4_Nonsense_Mutation_p.E747*			Q24JP5	T132A_HUMAN	transmembrane protein 132A	746	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCACCCGCCCGAGCCCTGCCG	0.746																																																0													9	12	11					11																	60703543		2130	4118	6248	SO:0001587	stop_gained	54972			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2236G>T	chr11.hg19:g.60703543G>T	ENSP00000405823:p.Glu746*		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Nonsense_Mutation	SNP	ENST00000453848.2	hg19	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	40	8.074232	0.98640	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	.	.	.	4.72	4.72	0.59763	.	0.306688	0.27393	N	0.019579	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0866	0.72158	0.0:0.0:1.0:0.0	.	.	.	.	X	497;746;747	.	ENSP00000005286:E747X	E	+	1	0	TMEM132A	60460119	1.000000	0.71417	0.955000	0.39395	0.985000	0.73830	6.464000	0.73534	2.620000	0.88729	0.561000	0.74099	GAG		0.746	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		T	60703543	G	T	60703543	4	4	25	1	0	0	0	0	0	1	0	0	16050	1059	37	4	2281	4	TMEM132A	11	60703543	Nonsense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10		60703543	74302973	56	1817											
HEPHL1	341208	hgsc.bcm.edu	37	11	93754630	93754630	+	Silent	SNP	G	G	T	rs267603252		TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr11:93754630G>T	ENST00000315765.9	+	1	104	c.96G>T	c.(94-96)ggG>ggT	p.G32G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	32	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACTACATTGGGATTGTGGAAG	0.473																																																0													161	157	158					11																	93754630		1911	4120	6031	SO:0001819	synonymous_variant	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.96G>T	chr11.hg19:g.93754630G>T			Q3C1W7	Silent	SNP	ENST00000315765.9	hg19	CCDS44710.1																																																																																				0.473	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		T	93754630	G	T	93754630	2	4	25	1	0	0	0	0	0	0	0	1	7057	1161	41	4		4	HEPHL1	11	93754630	Silent	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	33051087	93754630	41251886	57	1818											
MLL	4297	hgsc.bcm.edu	37	11	118352545	118352545	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr11:118352545G>T	ENST00000389506.5	+	7	3750	c.3750G>T	c.(3748-3750)gaG>gaT	p.E1250D	KMT2A_ENST00000354520.4_Missense_Mutation_p.E1250D|KMT2A_ENST00000534358.1_Missense_Mutation_p.E1250D			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1250					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGCAAGAGAGGATCCTGCCC	0.502																																																0													107	98	101					11																	118352545		2200	4296	6496	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3750G>T	chr11.hg19:g.118352545G>T	ENSP00000374157:p.Glu1250Asp		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	hg19	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016979	0.54576	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313	D;T;D;D	0.83075	-1.68;0.92;-1.68;-1.63	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	L	0.47716	1.5	0.41753	D	0.989671	B;B	0.27351	0.176;0.176	B;B	0.22386	0.039;0.039	T	0.72564	-0.4255	10	0.28530	T	0.3	.	13.4678	0.61266	0.0806:0.0:0.9194:0.0	.	1250;1250	E9PQG7;Q03164	.;MLL1_HUMAN	D	1250;1283;1250;1250;160	ENSP00000436786:E1250D;ENSP00000432391:E1283D;ENSP00000374157:E1250D;ENSP00000346516:E1250D	ENSP00000346516:E1250D	E	+	3	2	MLL	117857755	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.989000	0.40707	2.680000	0.91292	0.563000	0.77884	GAG		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		T	118352545	G	T	118352545	3	4	25	1	0	0	0	0	1	0	0	0	9622	991	35	4	3776	4	MLL	11	118352545	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	24597915	118352545	16653971	58	1819											
ERC1	23085	hgsc.bcm.edu	37	12	1192643	1192643	+	Missense_Mutation	SNP	A	A	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr12:1192643A>C	ENST00000397203.2	+	3	1389	c.983A>C	c.(982-984)gAa>gCa	p.E328A	ERC1_ENST00000589028.1_Missense_Mutation_p.E328A|ERC1_ENST00000543086.3_Missense_Mutation_p.E328A|ERC1_ENST00000546231.2_Missense_Mutation_p.E328A|ERC1_ENST00000355446.5_Missense_Mutation_p.E328A|ERC1_ENST00000360905.4_Missense_Mutation_p.E328A			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	328					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GCTACCGAGGAAGACCATGAG	0.458																																																0													88	86	87					12																	1192643		2203	4300	6503	SO:0001583	missense	23085			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.983A>C	chr12.hg19:g.1192643A>C	ENSP00000380386:p.Glu328Ala		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	hg19	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393749	0.62066	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	L	0.49350	1.555	0.58432	D	0.999999	B;D;D;D	0.76494	0.3;0.999;0.999;0.975	B;D;D;P	0.80764	0.297;0.994;0.994;0.78	T	0.52419	-0.8578	10	0.27785	T	0.31	-20.1362	15.9948	0.80232	1.0:0.0:0.0:0.0	.	104;328;328;328	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	A	328;328;328;328;328;328;328;328;328;328;104	ENSP00000340054:E328A;ENSP00000380386:E328A;ENSP00000438546:E328A;ENSP00000445336:E328A;ENSP00000442739:E328A;ENSP00000347621:E328A;ENSP00000354158:E328A;ENSP00000410064:E328A	ENSP00000340054:E328A	E	+	2	0	ERC1	1062904	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.277000	0.78572	2.234000	0.73211	0.533000	0.62120	GAA		0.458	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		C	1192643	A	C	1192643	3	2	25	1	0	0	0	0	1	0	0	0	5212	246	9	5	989	5	ERC1	12	1192643	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10		1192643	132659252	59	1820											
LRP6	4040	hgsc.bcm.edu	37	12	12301888	12301888	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr12:12301888T>G	ENST00000261349.4	-	14	3270	c.3194A>C	c.(3193-3195)aAc>aCc	p.N1065T	LRP6_ENST00000543091.1_Missense_Mutation_p.N1065T	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1065	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTTCTCTGGGTTTACCACAAC	0.453																																																0													184	167	173					12																	12301888		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3194A>C	chr12.hg19:g.12301888T>G	ENSP00000261349:p.Asn1065Thr		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	hg19	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876601	0.72180	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91068	-2.78;-2.78	4.82	4.82	0.62117	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000011	D	0.92639	0.7661	L	0.49126	1.545	0.80722	D	1	D;P	0.71674	0.998;0.632	D;B	0.74674	0.984;0.325	D	0.90702	0.4621	10	0.25106	T	0.35	.	13.3996	0.60874	0.0:0.0:0.0:1.0	.	1065;1065	F5H7J9;O75581	.;LRP6_HUMAN	T	1065	ENSP00000261349:N1065T;ENSP00000442472:N1065T	ENSP00000261349:N1065T	N	-	2	0	LRP6	12193155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.970000	0.70431	2.146000	0.66826	0.528000	0.53228	AAC		0.453	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			G	12301888	T	G	12301888	3	3	25	1	0	0	0	0	1	0	0	0	8964	1725	60	5	1687	5	LRP6	12	12301888	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	11109245	12301888	121550007	60	1821											
IFNG	3458	hgsc.bcm.edu	37	12	68551700	68551700	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr12:68551700T>G	ENST00000229135.3	-	3	490	c.359A>C	c.(358-360)aAt>aCt	p.N120T	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	120					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	CACCGAATAATTAGTCAGCTT	0.368																																																0													156	151	153					12																	68551700		2203	4299	6502	SO:0001583	missense	3458				CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"Interferons"	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.359A>C	chr12.hg19:g.68551700T>G	ENSP00000229135:p.Asn120Thr		B5BU88|Q53ZV4	Missense_Mutation	SNP	ENST00000229135.3	hg19	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	T	9.875	1.199940	0.22121	.	.	ENSG00000111537	ENST00000229135	T	0.43294	0.95	5.38	-1.2	0.09554	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.425740	0.04038	N	0.302620	T	0.23886	0.0578	N	0.12182	0.205	0.09310	N	1	B	0.24721	0.11	B	0.28465	0.09	T	0.13818	-1.0495	9	.	.	.	-2.0684	4.3675	0.11232	0.1454:0.3309:0.0:0.5238	.	120	P01579	IFNG_HUMAN	T	120	ENSP00000229135:N120T	.	N	-	2	0	IFNG	66837967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.502000	0.06390	-0.370000	0.08016	-1.157000	0.01802	AAT		0.368	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1			G	68551700	T	G	68551700	3	3	25	1	0	0	0	0	1	0	0	0	7550	1493	52	5	149	5	IFNG	12	68551700	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	56249812	68551700	65300195	61	1822											
ATXN2	6311	hgsc.bcm.edu	37	12	111893835	111893835	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr12:111893835G>T	ENST00000377617.3	-	23	3903	c.3742C>A	c.(3742-3744)Cag>Aag	p.Q1248K	ATXN2_ENST00000389153.4_Missense_Mutation_p.Q985K|ATXN2_ENST00000535949.1_Missense_Mutation_p.Q941K|ATXN2_ENST00000608853.1_Missense_Mutation_p.Q1088K|ATXN2_ENST00000542287.2_Missense_Mutation_p.Q983K|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1248					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGTATTACCTGAGGTACGTGG	0.502																																																0													245	226	232					12																	111893835		2203	4300	6503	SO:0001583	missense	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3742C>A	chr12.hg19:g.111893835G>T	ENSP00000366843:p.Gln1248Lys		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	hg19	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968319	0.92855	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	D	0.81821	-1.54	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	L	0.36672	1.1	0.80722	D	1	P;B;B;D;D	0.63880	0.792;0.435;0.139;0.993;0.982	B;B;B;D;D	0.75020	0.415;0.115;0.056;0.985;0.968	D	0.86104	0.1558	10	0.56958	D	0.05	-6.4193	19.9595	0.97236	0.0:0.0:1.0:0.0	.	249;1248;941;983;985	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	K	303;985;1248;249;983;941;173	ENSP00000366843:Q1248K	ENSP00000366843:Q1248K	Q	-	1	0	ATXN2	110378218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.974000	0.93433	2.797000	0.96272	0.563000	0.77884	CAG		0.502	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		T	111893835	G	T	111893835	3	4	25	1	0	0	0	0	1	0	0	0	1211	1299	45	4	211	4	ATXN2	12	111893835	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	43342135	111893835	21958060	62	1823											
OAS3	4940	hgsc.bcm.edu	37	12	113405314	113405314	+	Missense_Mutation	SNP	C	C	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr12:113405314C>G	ENST00000228928.7	+	13	2960	c.2781C>G	c.(2779-2781)ttC>ttG	p.F927L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	927	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCACCTGCTTCACAGAGCTAC	0.577																																																0													60	63	62					12																	113405314		2139	4269	6408	SO:0001583	missense	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2781C>G	chr12.hg19:g.113405314C>G	ENSP00000228928:p.Phe927Leu		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	hg19	CCDS44981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.11|15.11	2.736400|2.736400	0.49045|0.49045	.|.	.|.	ENSG00000111331|ENSG00000111331	ENST00000228928;ENST00000323881|ENST00000546973	T|.	0.55588|.	0.51|.	4.15|4.15	4.15|4.15	0.48705|0.48705	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);|.	0.000000|.	0.35936|.	U|.	0.002889|.	T|.	0.70928|.	0.3280|.	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|.	0.71159|.	-0.4674|.	10|.	0.87932|.	D|.	0|.	.|.	12.1472|12.1472	0.54029|0.54029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	927|.	Q9Y6K5|.	OAS3_HUMAN|.	L|X	927;926|99	ENSP00000228928:F927L|.	ENSP00000228928:F927L|.	F|S	+|+	3|2	2|0	OAS3|OAS3	111889697|111889697	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.053000|0.053000	0.15095|0.15095	1.391000|1.391000	0.34475|0.34475	2.301000|2.301000	0.77427|0.77427	0.558000|0.558000	0.71614|0.71614	TTC|TCA		0.577	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			G	113405314	C	G	113405314	3	3	25	1	0	0	0	0	1	0	0	0	10803	825	29	4	2831	4	OAS3	12	113405314	Missense_Mutation	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	1511479	113405314	20446581	63	1824											
DNAH10	196385	hgsc.bcm.edu	37	12	124323139	124323140	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr12:124323139_124323140insA	ENST00000409039.3	+	28	4710_4711	c.4685_4686insA	c.(4684-4689)agaaatfs	p.N1563fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1563	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATTCGAAGAGAAATGCTTTCC	0.515																																																0																																										SO:0001589	frameshift_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4688dupA	chr12.hg19:g.124323142_124323142dupA	ENSP00000386770:p.Asn1563fs		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Ins	INS	ENST00000409039.3	hg19	CCDS9255.2																																																																																				0.515	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124323140	-	A	124323139	7	5	25	1	0	1	1	0	0	0	0	0	4600	942	33	0	4795	0	DNAH10	12	124323139	Frame_Shift_Ins	INS	-	TCGA-4A-A93X-01A-11D-A36X-10	10917825	124323139	9528756	64	1825											
BRI3BP	140707	hgsc.bcm.edu	37	12	125509745	125509745	+	Silent	SNP	C	C	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr12:125509745C>T	ENST00000341446.8	+	3	616	c.525C>T	c.(523-525)caC>caT	p.H175H		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		ACATCCTGCACAAGTACGAGG	0.617																																																0													127	97	107					12																	125509745		2203	4300	6503	SO:0001819	synonymous_variant	140707			AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.525C>T	chr12.hg19:g.125509745C>T				Silent	SNP	ENST00000341446.8	hg19	CCDS9262.1																																																																																				0.617	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		T	125509745	C	T	125509745	2	4	25	1	0	0	0	0	0	0	0	1	1515	477	17	2		2	BRI3BP	12	125509745	Silent	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	1186606	125509745	8342150	65	1826											
SPERT	220082	hgsc.bcm.edu	37	13	46288259	46288259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr13:46288259C>T	ENST00000310521.1	+	3	1179	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	SPERT_ENST00000378966.3_Nonsense_Mutation_p.Q331*	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	367						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GCAGGCGCTGCAGGCCCTGCT	0.692																																																0													8	9	9					13																	46288259		2181	4250	6431	SO:0001587	stop_gained	220082			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.1099C>T	chr13.hg19:g.46288259C>T	ENSP00000309189:p.Gln367*		A8K8I5|Q8NHV2	Nonsense_Mutation	SNP	ENST00000310521.1	hg19	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	39	7.802377	0.98498	.	.	ENSG00000174015	ENST00000310521;ENST00000378966	.	.	.	4.83	4.83	0.62350	.	0.121108	0.37669	N	0.001987	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	14.7672	0.69648	0.0:1.0:0.0:0.0	.	.	.	.	X	367;331	.	ENSP00000309189:Q367X	Q	+	1	0	SPERT	45186260	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.125000	0.42016	2.502000	0.84385	0.609000	0.83330	CAG		0.692	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		T	46288259	C	T	46288259	4	4	25	1	0	0	0	0	0	1	0	0	15044	711	25	2	1109	2	SPERT	13	46288259	Nonsense_Mutation	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10		46288259	68881619	66	1827											
INTS6	26512	hgsc.bcm.edu	37	13	51952390	51952390	+	Silent	SNP	A	A	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr13:51952390A>T	ENST00000311234.4	-	12	2059	c.1587T>A	c.(1585-1587)gtT>gtA	p.V529V	INTS6_ENST00000497989.1_Silent_p.V351V|INTS6_ENST00000490542.1_Silent_p.V213V|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000398119.2_Silent_p.V516V|INTS6_ENST00000425000.1_Silent_p.V97V	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	529					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TCAGCAAAGCAACTTGGAACC	0.363																																																0													152	146	148					13																	51952390		2203	4300	6503	SO:0001819	synonymous_variant	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1587T>A	chr13.hg19:g.51952390A>T			Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	ENST00000311234.4	hg19	CCDS9428.1																																																																																				0.363	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		T	51952390	A	T	51952390	2	4	25	1	0	0	0	0	0	0	0	1	7784	117	5	5		5	INTS6	13	51952390	Silent	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	5664131	51952390	63217488	67	1828											
EML5	161436	hgsc.bcm.edu	37	14	89093338	89093338	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr14:89093338T>G	ENST00000380664.5	-	33	4559	c.4560A>C	c.(4558-4560)gaA>gaC	p.E1520D	EML5_ENST00000554922.1_Missense_Mutation_p.E1528D|EML5_ENST00000553320.1_5'Flank|EML5_ENST00000352093.5_Missense_Mutation_p.E1482D			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1520						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGGTCGGAATTCTGCCACAA	0.428																																																0													138	131	133					14																	89093338		1850	4106	5956	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4560A>C	chr14.hg19:g.89093338T>G	ENSP00000370039:p.Glu1520Asp		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	hg19	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538746	0.45176	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.49432	0.78;0.78;0.78	5.04	3.87	0.44632	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.120772	0.56097	D	0.000030	T	0.50905	0.1643	L	0.43646	1.37	0.39864	D	0.973418	B;D	0.69078	0.179;0.997	B;D	0.63283	0.121;0.913	T	0.47407	-0.9120	10	0.15499	T	0.54	-29.3795	8.3227	0.32138	0.0:0.1541:0.0:0.8459	.	1528;1520	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	D	1528;1482;1520	ENSP00000451998:E1528D;ENSP00000298315:E1482D;ENSP00000370039:E1520D	ENSP00000298315:E1482D	E	-	3	2	EML5	88163091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.593000	0.36686	0.924000	0.37069	0.533000	0.62120	GAA		0.428	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			G	89093338	T	G	89093338	3	3	25	1	0	0	0	0	1	0	0	0	5102	1490	52	5	1389	5	EML5	14	89093338	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10		89093338	18256202	68	1829											
HSP90AA1	3320	hgsc.bcm.edu	37	14	102551272	102551273	+	Frame_Shift_Ins	INS	-	-	TTCT			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr14:102551272_102551273insTTCT	ENST00000216281.8	-	5	931_932	c.726_727insAGAA	c.(724-729)gaagaafs	p.E243fs	HSP90AA1_ENST00000441629.2_Frame_Shift_Ins_p.E64fs|HSP90AA1_ENST00000334701.7_Frame_Shift_Ins_p.E365fs	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	243					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	tctttttcttcttctttgtctt	0.386																																																0																																										SO:0001589	frameshift_variant	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.727_730dupAGAA	chr14.hg19:g.102551273_102551276dupTTCT	ENSP00000216281:p.Glu243fs		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Frame_Shift_Ins	INS	ENST00000216281.8	hg19	CCDS9967.1																																																																																				0.386	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		TTCT	102551273	-	TTCT	102551272	7	5	25	1	0	1	1	0	0	0	0	0	7403	922	32	0	1499	0	HSP90AA1	14	102551272	Frame_Shift_Ins	INS	-	TCGA-4A-A93X-01A-11D-A36X-10	13457934	102551272	4798268	69	1830											
AHNAK2	113146	hgsc.bcm.edu	37	14	105406085	105406085	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr14:105406085A>T	ENST00000333244.5	-	7	15822	c.15703T>A	c.(15703-15705)Ttc>Atc	p.F5235I	AHNAK2_ENST00000557457.1_Missense_Mutation_p.F233I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5235						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAAACAAGGAACTCTTTGACT	0.547																																																0													260	282	275					14																	105406085		2065	4199	6264	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15703T>A	chr14.hg19:g.105406085A>T	ENSP00000353114:p.Phe5235Ile		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	A	9.688	1.151129	0.21371	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02737	4.18;5.4	3.73	-3.5	0.04710	.	4.827340	0.01750	U	0.029844	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.44003	-0.9356	10	0.21014	T	0.42	.	2.4033	0.04407	0.2008:0.301:0.3769:0.1213	.	5235	Q8IVF2	AHNK2_HUMAN	I	233;5235	ENSP00000450998:F233I;ENSP00000353114:F5235I	ENSP00000353114:F5235I	F	-	1	0	AHNAK2	104477130	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.436000	0.06922	-0.671000	0.05274	-0.441000	0.05720	TTC		0.547	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105406085	A	T	105406085	3	4	25	1	0	0	0	0	1	0	0	0	415	43	2	5	1688	5	AHNAK2	14	105406085	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	2854813	105406085	1943455	70	1831											
GCOM1	100820829	hgsc.bcm.edu	37	15	57967233	57967233	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr15:57967233G>T	ENST00000267853.5	+	12	1365	c.1271G>T	c.(1270-1272)aGa>aTa	p.R424I	GCOM1_ENST00000396180.1_Missense_Mutation_p.R393I|GCOM1_ENST00000572390.1_Missense_Mutation_p.R396I|MYZAP_ENST00000380565.4_Missense_Mutation_p.R396I|GCOM1_ENST00000380569.2_Missense_Mutation_p.R424I|GCOM1_ENST00000587652.1_Missense_Mutation_p.R424I|GCOM1_ENST00000380568.3_Missense_Mutation_p.R424I|GCOM1_ENST00000574161.1_Missense_Mutation_p.R424I|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Missense_Mutation_p.R365I|GCOM1_ENST00000380560.2_Missense_Mutation_p.R355I			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	424					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											GTGGAAACCAGAGAGATAGGA	0.368																																																0													103	105	104					15																	57967233		2192	4292	6484	SO:0001583	missense	145781			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.1271G>T	chr15.hg19:g.57967233G>T	ENSP00000267853:p.Arg424Ile		D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	hg19	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229693	0.79688	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.36699	1.5;1.47;1.53;1.54;1.46;1.24;1.49	5.55	5.55	0.83447	.	0.090649	0.85682	D	0.000000	T	0.49440	0.1557	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.76575	0.977;0.931;0.988;0.988	T	0.49312	-0.8953	10	0.72032	D	0.01	-17.4231	14.9994	0.71459	0.0:0.0:1.0:0.0	.	424;424;396;424	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	I	424;365;393;355;424;396;424	ENSP00000369943:R424I;ENSP00000369935:R365I;ENSP00000379483:R393I;ENSP00000369933:R355I;ENSP00000267853:R424I;ENSP00000369939:R396I;ENSP00000369942:R424I	ENSP00000267853:R424I	R	+	2	0	GCOM1	55754525	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.192000	0.72069	2.598000	0.87819	0.655000	0.94253	AGA		0.368	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		T	57967233	G	T	57967233	3	4	25	1	0	0	0	0	1	0	0	0	6306	942	33	4	1317	4	GCOM1	15	57967233	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10		57967233	44564159	71	1832											
RAB26	25837	hgsc.bcm.edu	37	16	2203146	2203146	+	Splice_Site	DEL	G	G	-			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr16:2203146delG	ENST00000210187.6	+	8	751		c.e8-1		RAB26_ENST00000541451.1_Splice_Site|TRAF7_ENST00000326181.6_5'Flank|SNORD60_ENST00000383903.1_RNA|RP11-304L19.5_ENST00000563192.1_lincRNA	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family						exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						GCTGTTTACAGGAGTATGGAC	0.637																																																0													58	56	56					16																	2203146		2197	4300	6497	SO:0001630	splice_region_variant	25837			AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"RAB, member RAS oncogene"	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.592-1G>-	chr16.hg19:g.2203146delG			B2RAA6|Q3L6K5|Q6NXS7	Splice_Site	DEL	ENST00000210187.6	hg19	CCDS10460.1																																																																																				0.637	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250767.2		Intron	-	2203146	G	-	2203146	8	5	25	1	0	1	0	1	0	0	1	0	12919	1014	35	0	621	0	RAB26	16	2203146	Splice_Site	DEL	G	TCGA-4A-A93X-01A-11D-A36X-10		2203146	88151607	72	1833											
SRRM2	23524	hgsc.bcm.edu	37	16	2814199	2814199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr16:2814199G>T	ENST00000301740.8	+	11	4219	c.3670G>T	c.(3670-3672)Gag>Tag	p.E1224*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1224	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGAAACAAAAGAGCAAAATAG	0.473																																																0													120	124	123					16																	2814199		2198	4300	6498	SO:0001587	stop_gained	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3670G>T	chr16.hg19:g.2814199G>T	ENSP00000301740:p.Glu1224*		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	ENST00000301740.8	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	39	7.886209	0.98542	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	.	.	.	6.17	5.13	0.70059	.	0.266442	0.32785	N	0.005652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-1.4439	9.3053	0.37872	0.1728:0.0:0.8272:0.0	.	.	.	.	X	1224;1224;476	.	ENSP00000301740:E1224X	E	+	1	0	SRRM2	2754200	1.000000	0.71417	0.983000	0.44433	0.167000	0.22549	1.237000	0.32695	1.463000	0.47967	0.655000	0.94253	GAG		0.473	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2814199	G	T	2814199	4	4	25	1	0	0	0	0	0	1	0	0	15174	943	33	4	3708	4	SRRM2	16	2814199	Nonsense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	611053	2814199	87540554	73	1834											
PDPR	55066	hgsc.bcm.edu	37	16	70190605	70190606	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr16:70190605_70190606insA	ENST00000288050.4	+	19	3420_3421	c.2463_2464insA	c.(2464-2466)gagfs	p.E822fs	PDPR_ENST00000542659.1_Frame_Shift_Ins_p.E167fs|PDPR_ENST00000398122.3_Frame_Shift_Ins_p.E722fs|RP11-296I10.3_ENST00000502126.1_RNA|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000567046.1_Frame_Shift_Ins_p.E180fs|PDPR_ENST00000568530.1_Frame_Shift_Ins_p.E822fs	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	822					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ACAATTTTTCTGAGGACACGGG	0.55																																																0																																										SO:0001589	frameshift_variant	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		Exception_encountered	chr16.hg19:g.70190605_70190606insA	ENSP00000288050:p.Glu822fs		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Frame_Shift_Ins	INS	ENST00000288050.4	hg19	CCDS45520.1																																																																																				0.55	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		A	70190606	-	A	70190605	7	5	25	1	0	1	1	0	0	0	0	0	11691	1567	55	0	2529	0	PDPR	16	70190605	Frame_Shift_Ins	INS	-	TCGA-4A-A93X-01A-11D-A36X-10	67376406	70190605	20164148	74	1835											
SCARF1	8578	hgsc.bcm.edu	37	17	1543778	1543778	+	Missense_Mutation	SNP	T	T	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr17:1543778T>C	ENST00000263071.4	-	5	1023	c.974A>G	c.(973-975)cAc>cGc	p.H325R	SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000348987.3_Missense_Mutation_p.H325R|SCARF1_ENST00000571272.1_Missense_Mutation_p.H325R	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	325	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCGCTGACAGTGGCCAGTATC	0.662																																																0													15	13	14					17																	1543778		2182	4287	6469	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.974A>G	chr17.hg19:g.1543778T>C	ENSP00000263071:p.His325Arg		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	hg19	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533044	0.45073	.	.	ENSG00000074660	ENST00000263071;ENST00000348987;ENST00000434376	T;T;T	0.33216	1.42;1.42;1.42	5.24	5.24	0.73138	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.49305	D	0.000150	T	0.28400	0.0702	L	0.28344	0.845	0.22796	N	0.998725	D;P;B	0.53462	0.96;0.751;0.028	P;B;B	0.51016	0.656;0.139;0.113	T	0.11084	-1.0602	10	0.22706	T	0.39	-13.5328	10.626	0.45508	0.0:0.0:0.2943:0.7057	.	325;325;325	Q14162-2;Q14162;Q14162-3	.;SREC_HUMAN;.	R	325	ENSP00000263071:H325R;ENSP00000323964:H325R;ENSP00000411167:H325R	ENSP00000263071:H325R	H	-	2	0	SCARF1	1490528	0.001000	0.12720	0.995000	0.50966	0.941000	0.58515	0.362000	0.20284	2.199000	0.70637	0.533000	0.62120	CAC		0.662	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		C	1543778	T	C	1543778	3	2	25	1	0	0	0	0	1	0	0	0	13889	1696	59	3	1546	3	SCARF1	17	1543778	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10		1543778	79651432	75	1836											
CORO6	84940	hgsc.bcm.edu	37	17	27943974	27943974	+	Silent	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr17:27943974G>A	ENST00000445145.2	-	6	841	c.840C>T	c.(838-840)atC>atT	p.I280I	CORO6_ENST00000456796.3_Silent_p.I46I|CORO6_ENST00000580212.1_Silent_p.I240I|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000345068.5_Silent_p.I280I|CORO6_ENST00000584969.1_Silent_p.I280I|CORO6_ENST00000388767.3_Silent_p.I280I			Q6QEF8	CORO6_HUMAN	coronin 6	280					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						ACAGGTAGACGATGCTGGAGT	0.617																																																0													171	159	163					17																	27943974		2203	4300	6503	SO:0001819	synonymous_variant	84940			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"Coronins", "WD repeat domain containing"	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.840C>T	chr17.hg19:g.27943974G>A			B3KU26|Q71MF3|Q8WYH7|Q96K02	Silent	SNP	ENST00000445145.2	hg19																																																																																					0.617	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		A	27943974	G	A	27943974	2	1	25	1	0	0	0	0	0	0	0	1	3760	1048	37	1		1	CORO6	17	27943974	Silent	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	26400196	27943974	53251236	76	1837											
MYO1D	4642	hgsc.bcm.edu	37	17	30932207	30932207	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr17:30932207G>A	ENST00000318217.5	-	21	3066	c.2762C>T	c.(2761-2763)aCg>aTg	p.T921M	MYO1D_ENST00000579584.1_Missense_Mutation_p.T921M|MYO1D_ENST00000394649.4_Missense_Mutation_p.T833M	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	921	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GTTGTCTTTCGTATGGAACAC	0.423																																																0													130	110	117					17																	30932207		2203	4300	6503	SO:0001583	missense	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2762C>T	chr17.hg19:g.30932207G>A	ENSP00000324527:p.Thr921Met		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	hg19	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109801	0.56398	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	T	0.36699	1.24	4.88	4.88	0.63580	Myosin tail 2 (1);	0.000000	0.40640	U	0.001050	T	0.26846	0.0657	N	0.25647	0.755	0.80722	D	1	P;P	0.38565	0.637;0.637	B;B	0.34301	0.179;0.118	T	0.09100	-1.0690	10	0.48119	T	0.1	.	15.8776	0.79178	0.0:0.0:1.0:0.0	.	832;921	Q7Z3N6;O94832	.;MYO1D_HUMAN	M	921;113	ENSP00000324527:T921M	ENSP00000324527:T921M	T	-	2	0	MYO1D	27956320	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.605000	0.82844	2.421000	0.82119	0.655000	0.94253	ACG		0.423	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			A	30932207	G	A	30932207	3	1	25	1	0	0	0	0	1	0	0	0	10073	1145	40	1	266	1	MYO1D	17	30932207	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	2988233	30932207	50263003	77	1838											
CACNB1	782	hgsc.bcm.edu	37	17	37340296	37340296	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr17:37340296G>A	ENST00000394303.3	-	10	1093	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	CACNB1_ENST00000394310.3_Missense_Mutation_p.R296C|CACNB1_ENST00000344140.5_Missense_Mutation_p.R341C|CACNB1_ENST00000582877.1_5'Flank	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	296				SNTR -> LQHT (in Ref. 3; AAA36167). {ECO:0000305}.	axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGCTGGAGCGTGTGTTGGAG	0.587																																					Esophageal Squamous(5;100 366 38393 41452 45827)											0													119	102	108					17																	37340296		2203	4300	6503	SO:0001583	missense	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.886C>T	chr17.hg19:g.37340296G>A	ENSP00000377840:p.Arg296Cys		A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	hg19	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415693	0.83449	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	T;T;T	0.44083	0.93;0.93;0.93	5.42	5.42	0.78866	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.979;0.997	T	0.78507	-0.2177	10	0.87932	D	0	-13.5845	17.986	0.89156	0.0:0.0:1.0:0.0	.	341;296;296	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	C	246;296;341;296;247	ENSP00000377840:R296C;ENSP00000345461:R341C;ENSP00000377847:R296C	ENSP00000345461:R341C	R	-	1	0	CACNB1	34593822	1.000000	0.71417	0.985000	0.45067	0.959000	0.62525	7.579000	0.82511	2.562000	0.86427	0.491000	0.48974	CGC		0.587	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			A	37340296	G	A	37340296	3	1	25	1	0	0	0	0	1	0	0	0	2554	1145	40	1	1035	1	CACNB1	17	37340296	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	6408089	37340296	43854914	78	1839											
SCRN2	90507	hgsc.bcm.edu	37	17	45916327	45916327	+	Missense_Mutation	SNP	A	A	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr17:45916327A>C	ENST00000290216.9	-	5	727	c.602T>G	c.(601-603)aTc>aGc	p.I201S	SCRN2_ENST00000584123.1_Missense_Mutation_p.I209S|SCRN2_ENST00000407215.3_Missense_Mutation_p.I201S	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	201						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TTGGGCCGAGATGTCCGTGCC	0.587																																																0													84	88	87					17																	45916327		2203	4300	6503	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.602T>G	chr17.hg19:g.45916327A>C	ENSP00000290216:p.Ile201Ser		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	hg19	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.162687	0.57368	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.22945	1.93;1.93	5.52	5.52	0.82312	.	0.204208	0.50627	D	0.000110	T	0.44767	0.1309	M	0.90759	3.145	0.53688	D	0.999973	P;P;P	0.47484	0.81;0.896;0.81	P;P;P	0.49887	0.625;0.625;0.625	T	0.52786	-0.8529	10	0.52906	T	0.07	-16.3059	9.1893	0.37189	0.9175:0.0:0.0825:0.0	.	201;201;201	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	S	201	ENSP00000290216:I201S;ENSP00000383935:I201S	ENSP00000290216:I201S	I	-	2	0	SCRN2	43271326	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	7.472000	0.80996	2.091000	0.63221	0.533000	0.62120	ATC		0.587	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		C	45916327	A	C	45916327	3	2	25	1	0	0	0	0	1	0	0	0	13945	333	12	5	709	5	SCRN2	17	45916327	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	8576031	45916327	35278883	79	1840											
LUC7L3	51747	hgsc.bcm.edu	37	17	48827997	48827998	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr17:48827997_48827998insT	ENST00000505658.1	+	10	1463_1464	c.1274_1275insT	c.(1273-1278)tctgaafs	p.E426fs	LUC7L3_ENST00000240304.1_Frame_Shift_Ins_p.E426fs|LUC7L3_ENST00000393227.2_Frame_Shift_Ins_p.E426fs|LUC7L3_ENST00000544170.1_Frame_Shift_Ins_p.E350fs			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	426					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GACATTAAATCTGAAGGTGACA	0.396																																																0																																										SO:0001589	frameshift_variant	51747				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"cisplatin resistance associated overexpressed protein", "CRE-associated protein"	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.1275dupT	chr17.hg19:g.48827998_48827998dupT	ENSP00000425092:p.Glu426fs		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Frame_Shift_Ins	INS	ENST00000505658.1	hg19	CCDS11573.1																																																																																				0.396	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		T	48827998	-	T	48827997	7	5	25	1	0	1	1	0	0	0	0	0	9086	913	32	0	1312	0	LUC7L3	17	48827997	Frame_Shift_Ins	INS	-	TCGA-4A-A93X-01A-11D-A36X-10	2911670	48827997	32367213	80	1841											
ABCA8	10351	hgsc.bcm.edu	37	17	66915445	66915445	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr17:66915445T>G	ENST00000269080.2	-	13	1922	c.1785A>C	c.(1783-1785)aaA>aaC	p.K595N	ABCA8_ENST00000430352.2_Missense_Mutation_p.K595N|ABCA8_ENST00000586539.1_Missense_Mutation_p.K595N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	595	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTTGTACCTCTTTATCCACTT	0.318																																																0													120	121	121					17																	66915445		2203	4300	6503	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1785A>C	chr17.hg19:g.66915445T>G	ENSP00000269080:p.Lys595Asn		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	hg19	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	4.610	0.113350	0.08831	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;D	0.93859	1.11;-3.3	4.54	2.25	0.28309	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.926293	0.09012	N	0.861352	D	0.83746	0.5321	N	0.11284	0.12	0.28435	N	0.917098	B;B;B;B;B	0.09022	0.002;0.0;0.002;0.0;0.0	B;B;B;B;B	0.12837	0.005;0.005;0.008;0.003;0.005	T	0.73597	-0.3932	10	0.56958	D	0.05	.	2.3391	0.04255	0.1542:0.0848:0.1604:0.6006	.	534;595;595;595;595	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	N	595;595;534	ENSP00000269080:K595N;ENSP00000402814:K595N	ENSP00000269080:K595N	K	-	3	2	ABCA8	64427040	0.000000	0.05858	0.501000	0.27601	0.038000	0.13279	-0.684000	0.05173	0.331000	0.23511	0.482000	0.46254	AAA		0.318	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		G	66915445	T	G	66915445	3	3	25	1	0	0	0	0	1	0	0	0	38	1606	56	5	3064	5	ABCA8	17	66915445	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	18087448	66915445	14279765	81	1842											
UNC13D	201294	hgsc.bcm.edu	37	17	73832109	73832109	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr17:73832109delC	ENST00000207549.4	-	17	1907	c.1528delG	c.(1528-1530)gacfs	p.D510fs	UNC13D_ENST00000412096.2_Frame_Shift_Del_p.D510fs	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	510	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGATCTTGTCCCATGTGCGC	0.617									Familial Hemophagocytic Lymphohistiocytosis																																							0													153	148	150					17																	73832109		2203	4300	6503	SO:0001589	frameshift_variant	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1528delG	chr17.hg19:g.73832109delC	ENSP00000207549:p.Asp510fs		B4DWG9|Q9H7K5	Frame_Shift_Del	DEL	ENST00000207549.4	hg19	CCDS11730.1																																																																																				0.617	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		-	73832109	C	-	73832109	7	5	25	1	0	1	0	1	0	0	0	0	16992	855	30	0	1808	0	UNC13D	17	73832109	Frame_Shift_Del	DEL	C	TCGA-4A-A93X-01A-11D-A36X-10	6916664	73832109	7363101	82	1843											
UBE2O	63893	hgsc.bcm.edu	37	17	74391863	74391863	+	Silent	SNP	C	C	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr17:74391863C>T	ENST00000319380.7	-	15	2953	c.2889G>A	c.(2887-2889)gcG>gcA	p.A963A	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	963					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TAGCCAGCAGCGCCATCTCCT	0.502																																																0													126	111	116					17																	74391863		2203	4300	6503	SO:0001819	synonymous_variant	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2889G>A	chr17.hg19:g.74391863C>T			A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	hg19	CCDS32742.1																																																																																				0.502	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		T	74391863	C	T	74391863	2	4	25	1	0	0	0	0	0	0	0	1	16873	755	27	1		1	UBE2O	17	74391863	Silent	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	559754	74391863	6803347	83	1844											
WDR18	57418	hgsc.bcm.edu	37	19	991092	991092	+	Silent	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr19:991092G>A	ENST00000251289.5	+	6	776	c.753G>A	c.(751-753)agG>agA	p.R251R	WDR18_ENST00000587001.2_Silent_p.R251R	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	251					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGACAGAGGGAGAGGAGCT	0.706																																																0													42	36	38					19																	991092		2190	4291	6481	SO:0001819	synonymous_variant	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.753G>A	chr19.hg19:g.991092G>A			O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	hg19	CCDS12051.1																																																																																				0.706	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			A	991092	G	A	991092	2	1	25	1	0	0	0	0	0	0	0	1	17283	1223	43	2		2	WDR18	19	991092	Silent	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10		991092	58137891	84	1845											
ZNF556	80032	hgsc.bcm.edu	37	19	2877861	2877861	+	Missense_Mutation	SNP	T	T	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr19:2877861T>C	ENST00000307635.2	+	4	992	c.905T>C	c.(904-906)tTt>tCt	p.F302S	ZNF556_ENST00000586426.1_Missense_Mutation_p.F301S	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAACATCCTTTCAACGACAC	0.507																																																0													61	57	58					19																	2877861		2203	4300	6503	SO:0001583	missense	80032			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.905T>C	chr19.hg19:g.2877861T>C	ENSP00000302603:p.Phe302Ser		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	hg19	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.110252	0.56398	.	.	ENSG00000172000	ENST00000307635	T	0.18810	2.19	2.3	2.3	0.28687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16938	0.0407	L	0.47078	1.49	0.09310	N	1	B	0.25850	0.136	B	0.24394	0.053	T	0.26608	-1.0098	9	0.87932	D	0	.	3.8674	0.09022	0.0:0.1859:0.0:0.8141	.	302	Q9HAH1	ZN556_HUMAN	S	302	ENSP00000302603:F302S	ENSP00000302603:F302S	F	+	2	0	ZNF556	2828861	0.000000	0.05858	0.210000	0.23637	0.362000	0.29581	-0.203000	0.09438	0.902000	0.36520	0.334000	0.21626	TTT		0.507	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		C	2877861	T	C	2877861	3	2	25	1	0	0	0	0	1	0	0	0	17992	1841	64	3	919	3	ZNF556	19	2877861	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	1886769	2877861	56251122	85	1846											
PNPLA6	10908	hgsc.bcm.edu	37	19	7623951	7623951	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr19:7623951G>T	ENST00000221249.6	+	31	3930	c.3499G>T	c.(3499-3501)Gtc>Ttc	p.V1167F	PNPLA6_ENST00000450331.3_Missense_Mutation_p.V1167F|PNPLA6_ENST00000545201.2_Missense_Mutation_p.V1140F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.V1215F|PNPLA6_ENST00000600737.1_Missense_Mutation_p.V1205F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1206					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTAGAGGTTGTCAAGTCCAG	0.572																																																0													89	66	74					19																	7623951		2203	4300	6503	SO:0001583	missense	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3499G>T	chr19.hg19:g.7623951G>T	ENSP00000221249:p.Val1167Phe		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	hg19	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	24.7	4.563922	0.86335	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	4.78	4.78	0.61160	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;1.0;1.0;0.945	T	0.71530	-0.4565	10	0.87932	D	0	-43.7646	15.3194	0.74109	0.0:0.0:1.0:0.0	.	1206;1140;1205;1167	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	F	1167;1140;1215;1167	ENSP00000221249:V1167F;ENSP00000443323:V1140F;ENSP00000407509:V1215F;ENSP00000394348:V1167F	ENSP00000221249:V1167F	V	+	1	0	PNPLA6	7529951	1.000000	0.71417	0.819000	0.32651	0.952000	0.60782	9.869000	0.99810	2.209000	0.71365	0.561000	0.74099	GTC		0.572	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		T	7623951	G	T	7623951	3	4	25	1	0	0	0	0	1	0	0	0	12171	1377	48	4	3757	4	PNPLA6	19	7623951	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	4746090	7623951	51505032	86	1847											
TMED1	11018	hgsc.bcm.edu	37	19	10945735	10945735	+	Missense_Mutation	SNP	T	T	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr19:10945735T>C	ENST00000214869.2	-	3	438	c.340A>G	c.(340-342)Atc>Gtc	p.I114V	TMED1_ENST00000588289.1_5'UTR|C19orf38_ENST00000592854.1_5'Flank|TMED1_ENST00000591695.1_Intron	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	114	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						TTCTCGGAGATGGTGCTGAAG	0.587																																																0													109	107	107					19																	10945735		2203	4300	6503	SO:0001583	missense	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"transmembrane emp24 domain containing 1"			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.340A>G	chr19.hg19:g.10945735T>C	ENSP00000214869:p.Ile114Val			Missense_Mutation	SNP	ENST00000214869.2	hg19	CCDS12249.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.263688	0.39995	.	.	ENSG00000099203	ENST00000214869	T	0.41758	0.99	5.15	5.15	0.70609	GOLD (3);	0.107611	0.64402	D	0.000005	T	0.36663	0.0975	L	0.39467	1.215	0.80722	D	1	B	0.18741	0.03	B	0.24701	0.055	T	0.13176	-1.0519	10	0.32370	T	0.25	-31.9399	13.9713	0.64242	0.0:0.0:0.0:1.0	.	114	Q13445	TMED1_HUMAN	V	114	ENSP00000214869:I114V	ENSP00000214869:I114V	I	-	1	0	TMED1	10806735	0.963000	0.33076	0.999000	0.59377	0.984000	0.73092	1.642000	0.37207	1.950000	0.56595	0.459000	0.35465	ATC		0.587	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858		C	10945735	T	C	10945735	3	2	25	1	0	0	0	0	1	0	0	0	16007	1464	51	3	351	3	TMED1	19	10945735	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	3321784	10945735	48183248	87	1848											
ZNF675	171392	hgsc.bcm.edu	37	19	23836072	23836072	+	Missense_Mutation	SNP	T	T	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr19:23836072T>G	ENST00000359788.4	-	4	1831	c.1663A>C	c.(1663-1665)Aaa>Caa	p.K555Q	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	555					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTATTTTTTTATGTTTAGTA	0.308																																																0													99	101	100					19																	23836072		2202	4299	6501	SO:0001583	missense	171392				CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1663A>C	chr19.hg19:g.23836072T>G	ENSP00000352836:p.Lys555Gln		Q8N211	Missense_Mutation	SNP	ENST00000359788.4	hg19	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	0.038	-1.297753	0.01364	.	.	ENSG00000197372	ENST00000359788	T	0.36340	1.26	0.886	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12817	0.0311	N	0.03115	-0.41	0.20821	N	0.999848	P	0.40875	0.731	B	0.42163	0.378	T	0.14868	-1.0457	9	0.02654	T	1	.	5.3645	0.16105	0.0:0.0:0.4182:0.5818	.	555	Q8TD23	ZN675_HUMAN	Q	555	ENSP00000352836:K555Q	ENSP00000352836:K555Q	K	-	1	0	ZNF675	23627912	0.001000	0.12720	0.220000	0.23810	0.218000	0.24690	-0.209000	0.09358	0.257000	0.21650	0.254000	0.18369	AAA		0.308	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		G	23836072	T	G	23836072	3	3	25	1	0	0	0	0	1	0	0	0	18087	1763	61	5	47	5	ZNF675	19	23836072	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	12890337	23836072	35292911	88	1849											
RPS16	6217	hgsc.bcm.edu	37	19	39923961	39923961	+	Missense_Mutation	SNP	C	C	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr19:39923961C>G	ENST00000251453.3	-	5	445	c.393G>C	c.(391-393)aaG>aaC	p.K131N	RPS16_ENST00000601655.1_Missense_Mutation_p.K114N|RPS16_ENST00000599539.1_3'UTR|RPS16_ENST00000339471.4_3'UTR	NM_001020.4	NP_001011.1	P62249	RS16_HUMAN	ribosomal protein S16	131					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCTCCAAACTTTTTGGACT	0.502																																																0													59	62	61					19																	39923961		2203	4300	6503	SO:0001583	missense	6217			M60854	CCDS12535.1	19q13.1	2011-04-05				ENSG00000105193		"S ribosomal proteins"	10396	protein-coding gene	gene with protein product	"40S ribosomal protein S16"	603675				2016298, 9582194	Standard	XM_005259137		Approved	S16	uc002olk.3	P62249		ENST00000251453.3:c.393G>C	chr19.hg19:g.39923961C>G	ENSP00000251453:p.Lys131Asn		B2RDD5|P17008	Missense_Mutation	SNP	ENST00000251453.3	hg19	CCDS12535.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263913	0.59431	.	.	ENSG00000105193	ENST00000251453	.	.	.	4.42	3.38	0.38709	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	.	.	.	.	D	0.87881	0.6289	H	0.99783	4.775	0.80722	D	1	D	0.60575	0.988	D	0.67103	0.949	D	0.87512	0.2440	7	.	.	.	.	6.8709	0.24121	0.0:0.7925:0.0:0.2075	.	131	P62249	RS16_HUMAN	N	131	.	.	K	-	3	2	RPS16	44615801	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	2.064000	0.41432	1.057000	0.40506	0.579000	0.79373	AAG		0.502	RPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464511.1	NM_001020		G	39923961	C	G	39923961	3	3	25	1	0	0	0	0	1	0	0	0	13633	564	20	4	51	4	RPS16	19	39923961	Missense_Mutation	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	16087889	39923961	19205022	89	1850											
SPTBN4	57731	hgsc.bcm.edu	37	19	41072264	41072264	+	Splice_Site	SNP	C	C	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr19:41072264C>T	ENST00000352632.3	+	30	6421	c.6335C>T	c.(6334-6336)aCg>aTg	p.T2112M	SPTBN4_ENST00000598249.1_Splice_Site_p.T2112M|SPTBN4_ENST00000392025.1_Splice_Site_p.T855M|SPTBN4_ENST00000338932.3_Splice_Site_p.T2112M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2112					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCCTGACCACGGTCAGCTCC	0.612																																																0													13	15	14					19																	41072264		2192	4279	6471	SO:0001630	splice_region_variant	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6336+1C>T	chr19.hg19:g.41072264C>T			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	hg19	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646036	0.87958	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025	T;T;T	0.78707	0.7;-1.2;0.7	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000004	D	0.85566	0.5726	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.77557	0.749;0.99	D	0.86750	0.1960	10	0.72032	D	0.01	.	17.0938	0.86628	0.0:1.0:0.0:0.0	.	855;2112	C9JY79;Q9H254	.;SPTN4_HUMAN	M	2112;2112;2112;855	ENSP00000263373:T2112M;ENSP00000340345:T2112M;ENSP00000375879:T855M	ENSP00000340345:T2112M	T	+	2	0	SPTBN4	45764104	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.474000	0.81024	2.566000	0.86566	0.561000	0.74099	ACG		0.612	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		Missense_Mutation	T	41072264	C	T	41072264	5	4	25	1	0	0	0	0	0	0	1	0	15126	550	19	1	6543	1	SPTBN4	19	41072264	Splice_Site	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10	1148303	41072264	18056719	90	1851											
BCKDHA	593	hgsc.bcm.edu	37	19	41928639	41928639	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr19:41928639A>T	ENST00000269980.2	+	7	1327	c.959A>T	c.(958-960)gAg>gTg	p.E320V	CTC-435M10.6_ENST00000598887.1_RNA|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E354V|BCKDHA_ENST00000457836.2_Missense_Mutation_p.E298V|BCKDHA_ENST00000535632.1_3'UTR|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E354V	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	320					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCTGTGGCAGAGAACCAGCCC	0.612																																																0													60	58	59					19																	41928639		2203	4300	6503	SO:0001583	missense	593			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.959A>T	chr19.hg19:g.41928639A>T	ENSP00000269980:p.Glu320Val		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	hg19	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543401	0.86022	.	.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836	D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83	5.69	5.69	0.88448	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	M	0.83603	2.65	0.80722	D	1	D;P;P;P	0.63880	0.993;0.946;0.914;0.882	P;P;P;P	0.62089	0.898;0.615;0.618;0.619	D	0.97889	1.0296	10	0.66056	D	0.02	-52.8066	14.9376	0.70970	1.0:0.0:0.0:0.0	.	298;319;320;354	B4DP47;Q59EI3;P12694;F5H5P2	.;.;ODBA_HUMAN;.	V	354;320;291;298	ENSP00000443246:E354V;ENSP00000269980:E320V;ENSP00000440345:E291V;ENSP00000416000:E298V	ENSP00000269980:E320V	E	+	2	0	BCKDHA;CTC-435M10.3	46620479	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.521000	0.90569	2.181000	0.69327	0.459000	0.35465	GAG		0.612	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		T	41928639	A	T	41928639	3	4	25	1	0	0	0	0	1	0	0	0	1359	304	11	5	985	5	BCKDHA	19	41928639	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	856375	41928639	17200344	91	1852											
GLTSCR1	29998	hgsc.bcm.edu	37	19	48205408	48205408	+	Silent	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr19:48205408G>A	ENST00000396720.3	+	15	4613	c.4419G>A	c.(4417-4419)aaG>aaA	p.K1473K	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1473										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCCTGCCAAGCGGCGCAAGT	0.726																																																0													4	5	4					19																	48205408		1993	4017	6010	SO:0001819	synonymous_variant	29998			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.4419G>A	chr19.hg19:g.48205408G>A			A8MW01	Silent	SNP	ENST00000396720.3	hg19	CCDS46134.1																																																																																				0.726	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		A	48205408	G	A	48205408	2	1	25	1	0	0	0	0	0	0	0	1	6476	962	34	2		2	GLTSCR1	19	48205408	Silent	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10	6276769	48205408	10923575	92	1853											
ZNF841	284371	hgsc.bcm.edu	37	19	52570490	52570491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr19:52570490_52570491insT	ENST00000426391.2	-	5	847_848	c.296_297insA	c.(295-297)aatfs	p.N99fs	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Frame_Shift_Ins_p.N215fs|ZNF841_ENST00000389534.4_Frame_Shift_Ins_p.N215fs|ZNF841_ENST00000359973.2_Frame_Shift_Ins_p.N99fs			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AAAAACAATTATTAACTGTCCT	0.337																																																0																																										SO:0001589	frameshift_variant	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.297dupA	chr19.hg19:g.52570492_52570492dupT	ENSP00000415453:p.Asn99fs		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Frame_Shift_Ins	INS	ENST00000426391.2	hg19																																																																																					0.337	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		T	52570491	-	T	52570490	7	5	25	1	0	1	1	0	0	0	0	0	18194	446	16	0	2133	0	ZNF841	19	52570490	Frame_Shift_Ins	INS	-	TCGA-4A-A93X-01A-11D-A36X-10	4365082	52570490	6558493	93	1854											
FOXA2	3170	hgsc.bcm.edu	37	20	22563153	22563153	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr20:22563153G>A	ENST00000377115.4	-	3	890	c.709C>T	c.(709-711)Cct>Tct	p.P237S	FOXA2_ENST00000419308.2_Missense_Mutation_p.P243S	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	237					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCCGAGTCAGGGTGCAGGGTC	0.652																																																0													25	28	27					20																	22563153		2203	4300	6503	SO:0001583	missense	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.709C>T	chr20.hg19:g.22563153G>A	ENSP00000366319:p.Pro237Ser		Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	hg19	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385733	0.82792	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.95656	-3.77;-3.77;-3.77	4.98	4.98	0.66077	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	U	0.000011	D	0.97430	0.9159	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70227	0.94;0.968	D	0.98254	1.0495	10	0.87932	D	0	.	17.8574	0.88769	0.0:0.0:1.0:0.0	.	237;243	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	S	237;237;243;123	ENSP00000366319:P237S;ENSP00000400341:P237S;ENSP00000315955:P243S	ENSP00000315955:P243S	P	-	1	0	FOXA2	22511153	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.688000	0.98670	2.304000	0.77564	0.574000	0.79327	CCT		0.652	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			A	22563153	G	A	22563153	3	1	25	1	0	0	0	0	1	0	0	0	5992	1232	43	2	668	2	FOXA2	20	22563153	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10		22563153	40462367	94	1855											
ARFGEF2	10564	hgsc.bcm.edu	37	20	47648608	47648608	+	Missense_Mutation	SNP	T	T	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr20:47648608T>C	ENST00000371917.4	+	38	5086	c.5086T>C	c.(5086-5088)Tat>Cat	p.Y1696H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1696					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGCTCTTGCCTATTTCATCAC	0.398																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													182	198	193					20																	47648608		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.5086T>C	chr20.hg19:g.47648608T>C	ENSP00000360985:p.Tyr1696His		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	hg19	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.545282	0.86022	.	.	ENSG00000124198	ENST00000371917	T	0.67345	-0.26	5.93	5.93	0.95920	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78443	-0.2202	10	0.25751	T	0.34	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1696	Q9Y6D5	BIG2_HUMAN	H	1696	ENSP00000360985:Y1696H	ENSP00000360985:Y1696H	Y	+	1	0	ARFGEF2	47082015	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.708000	0.84633	2.263000	0.75096	0.533000	0.62120	TAT		0.398	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		C	47648608	T	C	47648608	3	2	25	1	0	0	0	0	1	0	0	0	853	1522	53	3	5236	3	ARFGEF2	20	47648608	Missense_Mutation	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10	25085455	47648608	15376912	95	1856											
COL18A1	80781	hgsc.bcm.edu	37	21	46900748	46900748	+	Silent	SNP	T	T	C			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr21:46900748T>C	ENST00000359759.4	+	12	2853	c.2832T>C	c.(2830-2832)ggT>ggC	p.G944G	COL18A1_ENST00000400337.2_Silent_p.G529G|COL18A1_ENST00000355480.5_Silent_p.G709G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	944	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCGCGAGGGTCCCCCCGGGT	0.711																																																0													16	22	20					21																	46900748		1952	4118	6070	SO:0001819	synonymous_variant	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2832T>C	chr21.hg19:g.46900748T>C			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	hg19																																																																																					0.711	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			C	46900748	T	C	46900748	2	2	25	1	0	0	0	0	0	0	0	1	3677	1654	58	3		3	COL18A1	21	46900748	Silent	SNP	T	TCGA-4A-A93X-01A-11D-A36X-10		46900748	1229147	96	1857											
CHEK2	11200	hgsc.bcm.edu	37	22	29121248	29121248	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr22:29121248G>T	ENST00000405598.1	-	4	618	c.427C>A	c.(427-429)Cac>Aac	p.H143N	CHEK2_ENST00000382566.1_Missense_Mutation_p.H143N|CHEK2_ENST00000402731.1_Missense_Mutation_p.H143N|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.H143N|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.H143N|CHEK2_ENST00000382580.2_Missense_Mutation_p.H186N|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.H143N			O96017	CHK2_HUMAN	checkpoint kinase 2	143	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ATCCGAAAGTGTTTCTTGCTG	0.378			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0			GRCh37	CM077520	CHEK2	M							186	174	178					22																	29121248		2203	4300	6503	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.427C>A	chr22.hg19:g.29121248G>T	ENSP00000386087:p.His143Asn		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	hg19	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327958	0.81690	.	.	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	D;D;D;D;D;D;D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61;-5.61	5.87	5.87	0.94306	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.98629	4.285	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.998	D	0.97357	0.9967	10	0.87932	D	0	-12.4286	19.2001	0.93708	0.0:0.0:1.0:0.0	.	143;143;143;143;186	O96017-7;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	N	143;143;143;143;143;186;143;143;174;153	ENSP00000329012:H143N;ENSP00000372007:H143N;ENSP00000329178:H143N;ENSP00000385747:H143N;ENSP00000386087:H143N;ENSP00000372023:H186N;ENSP00000384835:H143N;ENSP00000397478:H143N;ENSP00000408065:H174N;ENSP00000381099:H153N	ENSP00000329178:H143N	H	-	1	0	CHEK2	27451248	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	7.118000	0.77137	2.784000	0.95788	0.585000	0.79938	CAC		0.378	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		T	29121248	G	T	29121248	3	4	25	1	0	0	0	0	1	0	0	0	3337	1377	48	4	1256	4	CHEK2	22	29121248	Missense_Mutation	SNP	G	TCGA-4A-A93X-01A-11D-A36X-10		29121248	22183318	97	1858											
CSF2RB	1439	hgsc.bcm.edu	37	22	37331470	37331470	+	Missense_Mutation	SNP	A	A	G			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chr22:37331470A>G	ENST00000403662.3	+	11	1615	c.1393A>G	c.(1393-1395)Atc>Gtc	p.I465V	CSF2RB_ENST00000406230.1_Missense_Mutation_p.I471V|CSF2RB_ENST00000262825.5_Missense_Mutation_p.I471V|CSF2RB_ENST00000536485.1_Missense_Mutation_p.I412V			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	465					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTTCTGTGGCATCTACGGGTA	0.647																																																0													115	89	98					22																	37331470		2203	4300	6503	SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1393A>G	chr22.hg19:g.37331470A>G	ENSP00000384053:p.Ile465Val		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	hg19	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	A	6.866	0.529159	0.13127	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91351	-2.32;-2.83;-2.83;-2.83	5.04	-8.6	0.00889	.	1.602080	0.03563	N	0.227412	T	0.74366	0.3707	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.003	T	0.70019	-0.4987	10	0.02654	T	1	-3.7527	9.1387	0.36890	0.3465:0.1842:0.4693:0.0	.	471;465	P32927-2;P32927	.;IL3RB_HUMAN	V	465;465;471;471;412	ENSP00000384053:I465V;ENSP00000262825:I471V;ENSP00000385271:I471V;ENSP00000440003:I412V	ENSP00000262825:I471V	I	+	1	0	CSF2RB	35661416	0.000000	0.05858	0.000000	0.03702	0.995000	0.86356	-0.653000	0.05360	-2.157000	0.00789	0.454000	0.30748	ATC		0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		G	37331470	A	G	37331470	3	3	25	1	0	0	0	0	1	0	0	0	3937	217	8	3	1431	3	CSF2RB	22	37331470	Missense_Mutation	SNP	A	TCGA-4A-A93X-01A-11D-A36X-10	8210222	37331470	13973096	98	1859											
STAG2	10735	hgsc.bcm.edu	37	X	123205104	123205104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4A-A93X-01A-11D-A36X-10	TCGA-4A-A93X-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8ecd194d-3286-4363-9701-6427c66e103c	581486c1-6d50-4794-a2c8-693606b711ff	g.chrX:123205104C>T	ENST00000371160.1	+	25	2754	c.2464C>T	c.(2464-2466)Cag>Tag	p.Q822*	STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q822*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q822*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q822*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q822*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q753*|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	822					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCTTCATTGCAGTCTGAGTT	0.363																																																0													219	188	199					X																	123205104		2203	4300	6503	SO:0001587	stop_gained	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2464C>T	chrX.hg19:g.123205104C>T	ENSP00000360202:p.Gln822*		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	hg19	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	43	10.338955	0.99387	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-18.2766	18.3649	0.90388	0.0:1.0:0.0:0.0	.	.	.	.	X	822;753;822;822;822;822	.	ENSP00000218089:Q822X	Q	+	1	0	STAG2	123032785	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.818000	0.86416	2.278000	0.76064	0.538000	0.68166	CAG		0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123205104	C	T	123205104	4	4	25	1	0	0	0	0	0	1	0	0	15248	711	25	2	2554	2	STAG2	23	123205104	Nonsense_Mutation	SNP	C	TCGA-4A-A93X-01A-11D-A36X-10		123205104	32065456	99	1860											
ARHGEF19	128272	hgsc.bcm.edu	37	1	16532674	16532674	+	Splice_Site	SNP	C	C	T			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr1:16532674C>T	ENST00000270747.3	-	7	1435		c.e7+1		ARHGEF19_ENST00000478117.1_Splice_Site	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19						regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CACTTCTTCACCTCTCGCTGG	0.632																																																0													42	36	38					1																	16532674		2203	4300	6503	SO:0001630	splice_region_variant	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1298+1G>A	chr1.hg19:g.16532674C>T			A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Splice_Site	SNP	ENST00000270747.3	hg19	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052337	0.75960	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607;ENST00000449495;ENST00000441785	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5392	0.76027	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGEF19	16405261	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.992000	0.76238	2.274000	0.75844	0.555000	0.69702	.		0.632	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213	Intron	T	16532674	C	T	16532674	5	4	26	1	0	0	0	0	0	0	1	0	902	521	18	2	1149	2	ARHGEF19	1	16532674	Splice_Site	SNP	C	TCGA-4A-A93Y-01A-11D-A36X-10		16532674	232717947	1	1861											
OLFML2B	25903	hgsc.bcm.edu	37	1	161953624	161953624	+	Nonsense_Mutation	SNP	G	G	T	rs150437510	byFrequency	TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr1:161953624G>T	ENST00000294794.3	-	8	2517	c.2094C>A	c.(2092-2094)taC>taA	p.Y698*	OLFML2B_ENST00000367940.2_Nonsense_Mutation_p.Y699*|OLFML2B_ENST00000367938.1_Nonsense_Mutation_p.Y181*	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	698	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGTCGAAAGCGTAGGAGATGT	0.552																																																0													374	346	355					1																	161953624		2203	4300	6503	SO:0001587	stop_gained	25903			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2094C>A	chr1.hg19:g.161953624G>T	ENSP00000294794:p.Tyr698*		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Nonsense_Mutation	SNP	ENST00000294794.3	hg19	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	39	7.778900	0.98486	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	.	.	.	5.36	-2.37	0.06643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5642	0.50796	0.6966:0.0:0.3034:0.0	.	.	.	.	X	698;699;181	.	ENSP00000294794:Y698X	Y	-	3	2	OLFML2B	160220248	0.002000	0.14202	0.992000	0.48379	0.968000	0.65278	-1.217000	0.02979	-0.315000	0.08703	-0.224000	0.12420	TAC		0.552	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		T	161953624	G	T	161953624	4	4	26	1	0	0	0	0	0	1	0	0	10860	1140	40	4	162	4	OLFML2B	1	161953624	Nonsense_Mutation	SNP	G	TCGA-4A-A93Y-01A-11D-A36X-10	145420950	161953624	87296997	2	1862											
BRP44	25874	hgsc.bcm.edu	37	1	167893755	167893755	+	Missense_Mutation	SNP	A	A	G			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr1:167893755A>G	ENST00000367846.4	-	2	328	c.130T>C	c.(130-132)Tgg>Cgg	p.W44R	MPC2_ENST00000271373.4_Missense_Mutation_p.W44R	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	44					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)										ATTGGAGCCCAGAAGAAAACT	0.303																																																0													18	19	19					1																	167893755		2201	4288	6489	SO:0001583	missense	25874				CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"brain protein 44"	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.130T>C	chr1.hg19:g.167893755A>G	ENSP00000356820:p.Trp44Arg		A8K261|Q3SXR6|Q6FIF3	Missense_Mutation	SNP	ENST00000367846.4	hg19	CCDS1266.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298760	0.81025	.	.	ENSG00000143158	ENST00000367846;ENST00000271373;ENST00000458574	D;D;D	0.87179	-2.22;-2.22;-2.22	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	H	0.96833	3.89	0.52099	D	0.999940	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96493	0.9365	9	0.72032	D	0.01	-14.2049	13.8186	0.63308	1.0:0.0:0.0:0.0	.	44;44	B2R4Q7;O95563	.;BR44_HUMAN	R	44	ENSP00000356820:W44R;ENSP00000271373:W44R;ENSP00000392874:W44R	ENSP00000271373:W44R	W	-	1	0	BRP44	166160379	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.363000	0.79516	2.311000	0.77944	0.533000	0.62120	TGG		0.303	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083652.1	NM_015415		G	167893755	A	G	167893755	3	3	26	1	0	0	0	0	1	0	0	0	1520	188	7	3	269	3	BRP44	1	167893755	Missense_Mutation	SNP	A	TCGA-4A-A93Y-01A-11D-A36X-10	5940131	167893755	81356866	3	1863											
ZNF142	7701	hgsc.bcm.edu	37	2	219508733	219508733	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr2:219508733A>T	ENST00000449707.1	-	8	2927	c.2506T>A	c.(2506-2508)Ttc>Atc	p.F836I	ZNF142_ENST00000411696.2_Missense_Mutation_p.F836I	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	836					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGGCAGCGGAAGGCTCGCCCC	0.612																																					Colon(170;867 1942 8995 15834 18053)											0													152	161	158					2																	219508733		2079	4197	6276	SO:0001583	missense	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2506T>A	chr2.hg19:g.219508733A>T	ENSP00000408643:p.Phe836Ile		Q92510	Missense_Mutation	SNP	ENST00000449707.1	hg19	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846106	0.71603	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.34667	1.35;1.35	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);	0.119890	0.64402	D	0.000014	T	0.66005	0.2746	M	0.88640	2.97	0.35186	D	0.772903	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.79911	-0.1603	10	0.72032	D	0.01	-4.589	15.2696	0.73689	1.0:0.0:0.0:0.0	.	836;673	P52746;A8MWU9	ZN142_HUMAN;.	I	836	ENSP00000408643:F836I;ENSP00000398798:F836I	ENSP00000398798:F836I	F	-	1	0	ZNF142	219216977	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.295000	0.59049	2.196000	0.70406	0.533000	0.62120	TTC		0.612	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		T	219508733	A	T	219508733	3	4	26	1	0	0	0	0	1	0	0	0	17736	72	3	5	2569	5	ZNF142	2	219508733	Missense_Mutation	SNP	A	TCGA-4A-A93Y-01A-11D-A36X-10		219508733	23690640	4	1864											
HEG1	57493	hgsc.bcm.edu	37	3	124732430	124732431	+	In_Frame_Ins	INS	-	-	GGAAGAGGAGGAGGAGGA	rs374949821		TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr3:124732430_124732431insGGAAGAGGAGGAGGAGGA	ENST00000311127.4	-	6	2059_2060	c.1992_1993insTCCTCCTCCTCCTCTTCC	c.(1990-1995)tcctcc>tccTCCTCCTCCTCCTCTTCCtcc	p.664_665SS>SSSSSSSS	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	664	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						gaggaggaggaggaagaggagg	0.495																																																0																																										SO:0001652	inframe_insertion	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1975_1992dupTCCTCCTCCTCCTCTTCC	chr3.hg19:g.124732430_124732431insGGAAGAGGAGGAGGAGGA	ENSP00000311502:p.Ser670_Ser671dup		Q6NX66|Q8NC40|Q9BSV0	In_Frame_Ins	INS	ENST00000311127.4	hg19	CCDS46898.1																																																																																				0.495	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		GGAAGAGGAGGAGGAGGA	124732431	-	GGAAGAGGAGGAGGAGGA	124732430	7	5	26	1	0	1	1	0	0	0	0	0	7046	304	11	0	2200	0	HEG1	3	124732430	In_Frame_Ins	INS	-	TCGA-4A-A93Y-01A-11D-A36X-10		124732430	73290000	5	1865											
CXXC4	80319	hgsc.bcm.edu	37	4	105412357	105412357	+	Silent	SNP	T	T	C			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr4:105412357T>C	ENST00000426831.1	-	1	110	c.96A>G	c.(94-96)ttA>ttG	p.L32L	CXXC4_ENST00000394767.2_Silent_p.L201L|AC004053.1_ENST00000500179.1_RNA|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	32					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GTTCAGGGGATAAGGTGGAGA	0.567																																																0													139	153	148					4																	105412357		2203	4300	6503	SO:0001819	synonymous_variant	80319				CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.96A>G	chr4.hg19:g.105412357T>C				Silent	SNP	ENST00000426831.1	hg19																																																																																					0.567	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		C	105412357	T	C	105412357	2	2	26	1	0	0	0	0	0	0	0	1	4100	1403	49	3		3	CXXC4	4	105412357	Silent	SNP	T	TCGA-4A-A93Y-01A-11D-A36X-10		105412357	85741919	6	1866											
RUNX2	860	hgsc.bcm.edu	37	6	45390445	45390445	+	Silent	SNP	A	A	G	rs563987595	byFrequency	TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	6	0.00119808	0.0015	0.0	5008	,	,		8050	0.002		0.0	False		,,,				2504	0.002															0													16	24	21					6																	45390445		1589	3298	4887	SO:0001819	synonymous_variant	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.174A>G	chr6.hg19:g.45390445A>G			O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	hg19	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		G	45390445	A	G	45390445	2	3	26	1	0	0	0	0	0	0	0	1	13754	40	2	3		3	RUNX2	6	45390445	Silent	SNP	A	TCGA-4A-A93Y-01A-11D-A36X-10		45390445	125724622	7	1867											
GPR126	57211	hgsc.bcm.edu	37	6	142714109	142714109	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr6:142714109A>T	ENST00000230173.6	+	8	1809	c.1333A>T	c.(1333-1335)Aac>Tac	p.N445Y	GPR126_ENST00000367609.3_Missense_Mutation_p.N445Y|GPR126_ENST00000367608.2_Missense_Mutation_p.N417Y|GPR126_ENST00000296932.8_Missense_Mutation_p.N417Y	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	445					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CCAAAATTGGAACTACACGGT	0.294																																																0													77	73	75					6																	142714109		1808	4068	5876	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1333A>T	chr6.hg19:g.142714109A>T	ENSP00000230173:p.Asn445Tyr		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	hg19	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125589	0.77436	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000002	T	0.53916	0.1826	L	0.55481	1.735	0.41315	D	0.98713	D;D;D;D	0.62365	0.991;0.991;0.991;0.984	P;P;P;P	0.62560	0.904;0.904;0.904;0.804	T	0.58880	-0.7558	10	0.66056	D	0.02	.	15.9301	0.79651	1.0:0.0:0.0:0.0	.	417;445;417;445	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	Y	445;417;417;445	ENSP00000230173:N445Y;ENSP00000356580:N417Y;ENSP00000296932:N417Y;ENSP00000356581:N445Y	ENSP00000230173:N445Y	N	+	1	0	GPR126	142755802	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.462000	0.73526	2.165000	0.68154	0.528000	0.53228	AAC		0.294	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			T	142714109	A	T	142714109	3	4	26	1	0	0	0	0	1	0	0	0	6642	246	9	5	1363	5	GPR126	6	142714109	Missense_Mutation	SNP	A	TCGA-4A-A93Y-01A-11D-A36X-10	97323664	142714109	28400958	8	1868											
SP4	6671	hgsc.bcm.edu	37	7	21468306	21468306	+	Missense_Mutation	SNP	G	G	A			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr7:21468306G>A	ENST00000222584.3	+	2	237	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	7	Poly-Glu.				regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCAGAAGAAGGAGGAGGAGGA	0.512																																																0													20	20	20					7																	21468306		2171	4251	6422	SO:0001583	missense	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.19G>A	chr7.hg19:g.21468306G>A	ENSP00000222584:p.Glu7Lys		O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	hg19	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318989	0.41096	.	.	ENSG00000105866	ENST00000222584;ENST00000446800	T	0.09911	2.93	4.5	4.5	0.54988	.	0.061123	0.64402	N	0.000005	T	0.10937	0.0267	L	0.36672	1.1	0.44142	D	0.996934	P	0.34587	0.458	B	0.39152	0.292	T	0.20907	-1.0261	10	0.23891	T	0.37	.	12.5742	0.56355	0.0:0.0:1.0:0.0	.	7	Q02446	SP4_HUMAN	K	7	ENSP00000222584:E7K	ENSP00000222584:E7K	E	+	1	0	SP4	21434831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.555000	0.73928	2.345000	0.79718	0.563000	0.77884	GAG		0.512	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		A	21468306	G	A	21468306	3	1	26	1	0	0	0	0	1	0	0	0	14972	1175	41	2	25	2	SP4	7	21468306	Missense_Mutation	SNP	G	TCGA-4A-A93Y-01A-11D-A36X-10		21468306	137670357	9	1869											
PLXNA4	91584	hgsc.bcm.edu	37	7	131859623	131859623	+	Missense_Mutation	SNP	C	C	T			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr7:131859623C>T	ENST00000359827.3	-	21	4893	c.3931G>A	c.(3931-3933)Ggg>Agg	p.G1311R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1311R			Q9HCM2	PLXA4_HUMAN	plexin A4	1311					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACGGAATCCCGGCTCCATCC	0.582																																																0													104	114	111					7																	131859623		2166	4295	6461	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3931G>A	chr7.hg19:g.131859623C>T	ENSP00000352882:p.Gly1311Arg		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	hg19	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369032	0.95900	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15603	2.41;2.41	5.59	5.59	0.84812	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.27502	-1.0072	10	0.59425	D	0.04	.	19.5911	0.95511	0.0:1.0:0.0:0.0	.	1311	Q9HCM2	PLXA4_HUMAN	R	1311	ENSP00000323194:G1311R;ENSP00000352882:G1311R	ENSP00000323194:G1311R	G	-	1	0	PLXNA4	131510163	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.792000	0.85828	2.643000	0.89663	0.655000	0.94253	GGG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131859623	C	T	131859623	3	4	26	1	0	0	0	0	1	0	0	0	12124	652	23	1	1801	1	PLXNA4	7	131859623	Missense_Mutation	SNP	C	TCGA-4A-A93Y-01A-11D-A36X-10	110391317	131859623	27279040	10	1870											
CNTLN	54875	hgsc.bcm.edu	37	9	17330790	17330790	+	Missense_Mutation	SNP	C	C	A			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr9:17330790C>A	ENST00000380647.3	+	9	1586	c.1502C>A	c.(1501-1503)gCt>gAt	p.A501D	CNTLN_ENST00000262360.5_Missense_Mutation_p.A501D|CNTLN_ENST00000425824.1_Missense_Mutation_p.A501D			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	501					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATGACAAGTGCTGAAGGAAAA	0.373																																																0													105	99	101					9																	17330790		1877	4098	5975	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1502C>A	chr9.hg19:g.17330790C>A	ENSP00000370021:p.Ala501Asp		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	hg19	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327537	0.24080	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.37752	1.18;1.18;1.18	5.18	4.28	0.50868	.	.	.	.	.	T	0.36468	0.0968	L	0.43152	1.355	0.27282	N	0.958076	B;P;P	0.36837	0.435;0.571;0.571	B;P;P	0.45232	0.154;0.474;0.474	T	0.17048	-1.0382	9	0.14656	T	0.56	.	11.2195	0.48846	0.0:0.8015:0.1273:0.0711	.	501;501;501	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	D	501	ENSP00000370021:A501D;ENSP00000392798:A501D;ENSP00000262360:A501D	ENSP00000262360:A501D	A	+	2	0	CNTLN	17320790	0.179000	0.23135	0.745000	0.31077	0.551000	0.35334	0.445000	0.21677	1.303000	0.44873	-0.157000	0.13467	GCT		0.373	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		A	17330790	C	A	17330790	3	1	26	1	0	0	0	0	1	0	0	0	3641	797	28	4	1566	4	CNTLN	9	17330790	Missense_Mutation	SNP	C	TCGA-4A-A93Y-01A-11D-A36X-10		17330790	123882641	11	1871											
SUSD1	64420	hgsc.bcm.edu	37	9	114864480	114864480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr9:114864480delT	ENST00000374270.3	-	9	1429	c.1257delA	c.(1255-1257)aaafs	p.K419fs	SUSD1_ENST00000374263.3_Frame_Shift_Del_p.K419fs|SUSD1_ENST00000374264.2_Frame_Shift_Del_p.K419fs	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	419						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTGATCCAACTTTCCTAGAAC	0.328																																																0													85	85	85					9																	114864480		2202	4297	6499	SO:0001589	frameshift_variant	64420			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1257delA	chr9.hg19:g.114864480delT	ENSP00000363388:p.Lys419fs		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Frame_Shift_Del	DEL	ENST00000374270.3	hg19	CCDS6783.1																																																																																				0.328	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		-	114864480	T	-	114864480	7	5	26	1	0	1	0	1	0	0	0	0	15412	1606	56	0	1022	0	SUSD1	9	114864480	Frame_Shift_Del	DEL	T	TCGA-4A-A93Y-01A-11D-A36X-10	97533690	114864480	26348951	12	1872											
OR6Q1	219952	hgsc.bcm.edu	37	11	57798465	57798465	+	Missense_Mutation	SNP	T	T	A			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr11:57798465T>A	ENST00000302622.3	+	1	64	c.41T>A	c.(40-42)tTt>tAt	p.F14Y	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GTAACTGAATTTGTCATGATG	0.458																																																0													200	191	194					11																	57798465		2201	4296	6497	SO:0001583	missense	219952			AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.41T>A	chr11.hg19:g.57798465T>A	ENSP00000307734:p.Phe14Tyr		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	hg19	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.276285	0.80580	.	.	ENSG00000172381	ENST00000302622	T	0.04360	3.64	5.32	5.32	0.75619	.	0.000000	0.37219	N	0.002183	T	0.30135	0.0755	M	0.93283	3.4	0.31808	N	0.62755	D	0.89917	1.0	D	0.87578	0.998	T	0.54892	-0.8225	10	0.72032	D	0.01	.	14.2577	0.66062	0.0:0.0:0.0:1.0	.	14	Q8NGQ2	OR6Q1_HUMAN	Y	14	ENSP00000307734:F14Y	ENSP00000307734:F14Y	F	+	2	0	OR6Q1	57555041	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.294000	0.65687	2.008000	0.58898	0.523000	0.50628	TTT		0.458	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		A	57798465	T	A	57798465	3	1	26	1	0	0	0	0	1	0	0	0	11210	1841	64	5	43	5	OR6Q1	11	57798465	Missense_Mutation	SNP	T	TCGA-4A-A93Y-01A-11D-A36X-10		57798465	77208051	13	1873											
LRP1	4035	hgsc.bcm.edu	37	12	57589521	57589521	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr12:57589521G>T	ENST00000243077.3	+	53	8984	c.8518G>T	c.(8518-8520)Gac>Tac	p.D2840Y	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2840	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGTGACCACGACCGTGACTG	0.622																																																0													140	126	130					12																	57589521		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8518G>T	chr12.hg19:g.57589521G>T	ENSP00000243077:p.Asp2840Tyr		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446589	0.63178	.	.	ENSG00000123384	ENST00000243077	D	0.95690	-3.78	4.95	4.95	0.65309	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98001	1.0360	10	0.72032	D	0.01	.	17.1132	0.86681	0.0:0.0:1.0:0.0	.	2840	Q07954	LRP1_HUMAN	Y	2840	ENSP00000243077:D2840Y	ENSP00000243077:D2840Y	D	+	1	0	LRP1	55875788	1.000000	0.71417	0.995000	0.50966	0.728000	0.41692	6.544000	0.73878	2.562000	0.86427	0.561000	0.74099	GAC		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57589521	G	T	57589521	3	4	26	1	0	0	0	0	1	0	0	0	8953	1058	37	4	8728	4	LRP1	12	57589521	Missense_Mutation	SNP	G	TCGA-4A-A93Y-01A-11D-A36X-10		57589521	76262374	14	1874											
LTK	4058	hgsc.bcm.edu	37	15	41797955	41797955	+	Silent	SNP	C	C	T	rs375203744		TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr15:41797955C>T	ENST00000263800.6	-	13	1749	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S	LTK_ENST00000453182.2_Silent_p.S421S|LTK_ENST00000355166.5_Silent_p.S490S|LTK_ENST00000561619.1_Silent_p.S249S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	551	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CATCCTGAGGCGAGCAGAGTT	0.607										TSP Lung(18;0.14)																																						0																																										SO:0001819	synonymous_variant	4058			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1653G>A	chr15.hg19:g.41797955C>T			A6NNJ8|B4DL89|E9PFX4	Silent	SNP	ENST00000263800.6	hg19	CCDS10077.1																																																																																				0.607	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			T	41797955	C	T	41797955	2	4	26	1	0	0	0	0	0	0	0	1	9082	755	27	1		1	LTK	15	41797955	Silent	SNP	C	TCGA-4A-A93Y-01A-11D-A36X-10		41797955	60733437	15	1875											
CREBBP	1387	hgsc.bcm.edu	37	16	3786685	3786685	+	Missense_Mutation	SNP	T	T	C			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr16:3786685T>C	ENST00000262367.5	-	27	5335	c.4526A>G	c.(4525-4527)aAg>aGg	p.K1509R	CREBBP_ENST00000382070.3_Missense_Mutation_p.K1471R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1509	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCAAACGCCTTGTCCAGCAT	0.488			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													304	255	272					16																	3786685		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4526A>G	chr16.hg19:g.3786685T>C	ENSP00000262367:p.Lys1509Arg		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	t	21.9	4.214104	0.79352	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93906	-3.31;-3.31	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	M	0.82517	2.595	0.80722	D	1	D;D	0.56035	0.974;0.974	D;D	0.75484	0.986;0.986	D	0.97056	0.9767	10	0.62326	D	0.03	-26.9444	14.6308	0.68655	0.0:0.0:0.0:1.0	.	1539;1509	Q4LE28;Q92793	.;CBP_HUMAN	R	1509;1539;1471;98	ENSP00000262367:K1509R;ENSP00000371502:K1471R	ENSP00000262367:K1509R	K	-	2	0	CREBBP	3726686	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.774000	0.85478	2.107000	0.64212	0.459000	0.35465	AAG		0.488	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		C	3786685	T	C	3786685	3	2	26	1	0	0	0	0	1	0	0	0	3863	1609	56	3	2822	3	CREBBP	16	3786685	Missense_Mutation	SNP	T	TCGA-4A-A93Y-01A-11D-A36X-10		3786685	86568068	16	1876											
ABCC6	368	hgsc.bcm.edu	37	16	16302617	16302618	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr16:16302617_16302618insT	ENST00000205557.7	-	7	790_791	c.761_762insA	c.(760-762)aagfs	p.K254fs	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	254					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TCATCCACTCCTTTTCAAGCCG	0.55																																																0																																										SO:0001589	frameshift_variant	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.762dupA	chr16.hg19:g.16302621_16302621dupT	ENSP00000205557:p.Lys254fs		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Frame_Shift_Ins	INS	ENST00000205557.7	hg19	CCDS10568.1																																																																																				0.55	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			T	16302618	-	T	16302617	7	5	26	1	0	1	1	0	0	0	0	0	57	680	24	0	3849	0	ABCC6	16	16302617	Frame_Shift_Ins	INS	-	TCGA-4A-A93Y-01A-11D-A36X-10	12515932	16302617	74052136	17	1877											
CACNG3	10368	hgsc.bcm.edu	37	16	24358125	24358125	+	Silent	SNP	C	C	T			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr16:24358125C>T	ENST00000005284.3	+	2	1484	c.282C>T	c.(280-282)gcC>gcT	p.A94A		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	94					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGGACACAGCCGAATATCTCC	0.557																																																0													79	71	74					16																	24358125		2197	4300	6497	SO:0001819	synonymous_variant	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.282C>T	chr16.hg19:g.24358125C>T				Silent	SNP	ENST00000005284.3	hg19	CCDS10620.1																																																																																				0.557	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		T	24358125	C	T	24358125	2	4	26	1	0	0	0	0	0	0	0	1	2560	639	23	1		1	CACNG3	16	24358125	Silent	SNP	C	TCGA-4A-A93Y-01A-11D-A36X-10	8055508	24358125	65996628	18	1878											
DHX38	9785	hgsc.bcm.edu	37	16	72133644	72133644	+	Missense_Mutation	SNP	A	A	T			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr16:72133644A>T	ENST00000268482.3	+	8	1483	c.974A>T	c.(973-975)gAt>gTt	p.D325V	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	325					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCGATCGGGATTGGTACATG	0.567											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(97;711 1442 7855 13832 28836)											0													80	69	72					16																	72133644		2198	4300	6498	SO:0001583	missense	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.974A>T	chr16.hg19:g.72133644A>T	ENSP00000268482:p.Asp325Val	1135	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	hg19	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128632	0.77549	.	.	ENSG00000140829	ENST00000268482	T	0.03242	4.0	4.69	4.69	0.59074	.	0.055445	0.64402	D	0.000001	T	0.09247	0.0228	M	0.82517	2.595	0.80722	D	1	P	0.42735	0.788	B	0.40410	0.328	T	0.02837	-1.1104	10	0.66056	D	0.02	.	14.4607	0.67448	1.0:0.0:0.0:0.0	.	325	Q92620	PRP16_HUMAN	V	325	ENSP00000268482:D325V	ENSP00000268482:D325V	D	+	2	0	DHX38	70691145	1.000000	0.71417	0.994000	0.49952	0.843000	0.47879	8.822000	0.92013	1.878000	0.54408	0.455000	0.32223	GAT		0.567	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		T	72133644	A	T	72133644	3	4	26	1	0	0	0	0	1	0	0	0	4513	333	12	5	1000	5	DHX38	16	72133644	Missense_Mutation	SNP	A	TCGA-4A-A93Y-01A-11D-A36X-10	47775519	72133644	18221109	19	1879											
NCOR1	9611	hgsc.bcm.edu	37	17	15965099	15965099	+	Missense_Mutation	SNP	G	G	T			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr17:15965099G>T	ENST00000268712.3	-	37	5754	c.5497C>A	c.(5497-5499)Cag>Aag	p.Q1833K	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1849K|NCOR1_ENST00000395857.3_Missense_Mutation_p.Q417K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1833	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACATCCATCTGGGGTGCAGAA	0.532																																																0													58	62	61					17																	15965099		2203	4299	6502	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5497C>A	chr17.hg19:g.15965099G>T	ENSP00000268712:p.Gln1833Lys		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984237	0.93044	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.51325	0.71;1.03;0.74	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D	0.69078	0.986;0.989;0.969;0.982;0.997	D;D;D;D;D	0.77557	0.979;0.966;0.93;0.968;0.99	T	0.62091	-0.6927	10	0.54805	T	0.06	-9.2428	18.9559	0.92658	0.0:0.0:1.0:0.0	.	643;1737;1833;1849;353	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	K	1833;1849;1737;417	ENSP00000268712:Q1833K;ENSP00000379192:Q1849K;ENSP00000379198:Q417K	ENSP00000268712:Q1833K	Q	-	1	0	NCOR1	15905824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.963000	0.93385	2.727000	0.93392	0.650000	0.86243	CAG		0.532	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		T	15965099	G	T	15965099	3	4	26	1	0	0	0	0	1	0	0	0	10237	1357	47	4	1865	4	NCOR1	17	15965099	Missense_Mutation	SNP	G	TCGA-4A-A93Y-01A-11D-A36X-10		15965099	65230111	20	1880											
SUZ12	23512	hgsc.bcm.edu	37	17	30315477	30315477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr17:30315477G>T	ENST00000322652.5	+	10	1391	c.1162G>T	c.(1162-1164)Gaa>Taa	p.E388*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.E365*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	388					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TCTCCATCAGGAAAACAAGCC	0.393			T	JAZF1	endometrial stromal tumours																																		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0													75	74	75					17																	30315477		2203	4300	6503	SO:0001587	stop_gained	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1162G>T	chr17.hg19:g.30315477G>T	ENSP00000316578:p.Glu388*		Q96BD9	Nonsense_Mutation	SNP	ENST00000322652.5	hg19	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	g	38	7.192437	0.98125	.	.	ENSG00000178691	ENST00000322652	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-15.3921	19.7638	0.96333	0.0:0.0:1.0:0.0	.	.	.	.	X	388	.	ENSP00000316578:E388X	E	+	1	0	SUZ12	27339590	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.543000	0.73874	2.673000	0.90976	0.650000	0.86243	GAA		0.393	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		T	30315477	G	T	30315477	4	4	26	1	0	0	0	0	0	1	0	0	15421	1175	41	4	1200	4	SUZ12	17	30315477	Nonsense_Mutation	SNP	G	TCGA-4A-A93Y-01A-11D-A36X-10	14350378	30315477	50879733	21	1881											
SYCP2	10388	hgsc.bcm.edu	37	20	58445040	58445040	+	Splice_Site	SNP	T	T	G			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chr20:58445040T>G	ENST00000357552.3	-	36	3781		c.e36-2		SYCP2_ENST00000371001.2_Splice_Site			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATGTCTGGGCTATGAATGAAG	0.318																																																0													58	54	55					20																	58445040		2192	4291	6483	SO:0001630	splice_region_variant	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3556-2A>C	chr20.hg19:g.58445040T>G			A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Splice_Site	SNP	ENST00000357552.3	hg19	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.952546	0.34471	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1113	0.48235	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYCP2	57878435	0.710000	0.27896	0.907000	0.35723	0.304000	0.27724	2.666000	0.46799	1.873000	0.54277	0.460000	0.39030	.		0.318	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	Intron	G	58445040	T	G	58445040	5	3	26	1	0	0	0	0	0	0	1	0	15437	1536	53	5	1078	5	SYCP2	20	58445040	Splice_Site	SNP	T	TCGA-4A-A93Y-01A-11D-A36X-10		58445040	4580480	22	1882											
MXRA5	25878	hgsc.bcm.edu	37	X	3235245	3235246	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-4A-A93Y-01A-11D-A36X-10	TCGA-4A-A93Y-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ecd232a0-9ac6-4eda-8f3e-8ab73e39ce90	8502bb1a-6a04-42ad-88f1-4559e24b1286	g.chrX:3235245_3235246CC>AA	ENST00000217939.6	-	6	6630_6631	c.6476_6477GG>TT	c.(6475-6477)aGG>aTT	p.R2159I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2159	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCCTCCGTACCTGACGTCCGT	0.683																																																0																																										SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6476_6477delinsAA	chrX.hg19:g.3235245_3235246delinsAA	ENSP00000217939:p.Arg2159Ile		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	hg19	CCDS14124.1																																																																																				0.683	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		AA	3235246	CC	AA	3235245	3	1	26	1	0	0	0	0	1	0	0	0	10005	506	18	4	2017	4	MXRA5	23	3235245	Missense_Mutation	DNP	CC	TCGA-4A-A93Y-01A-11D-A36X-10		3235245	152035315	23	1883											
PADI6	353238	hgsc.bcm.edu	37	1	17721468	17721468	+	RNA	SNP	T	T	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr1:17721468T>C	ENST00000434762.2	+	0	1410							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGGCCATGAGTAAGACCCTCC	0.587																																																0													41	45	44					1																	17721468		2104	4264	6368			353238			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		chr1.hg19:g.17721468T>C			Q330K5|Q70SX3	Silent	SNP	ENST00000434762.2	hg19																																																																																					0.587	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		C	17721468	T	C	17721468	1	2	27	0	1	0	0	0	0	0	0	0	11383	1635	57	3		3	PADI6	1	17721468	RNA	SNP	T	TCGA-5P-A9JU-01A-11D-A42J-10		17721468	231529153	1	1884											
NT5C1A	84618	hgsc.bcm.edu	37	1	40126872	40126872	+	Missense_Mutation	SNP	C	C	T	rs572504200		TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr1:40126872C>T	ENST00000235628.1	-	5	619	c.620G>A	c.(619-621)cGc>cAc	p.R207H		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	207					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGGCCACGCGCAGCTGACT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19843	0.0		0.0	False		,,,				2504	0.001															0													60	52	55					1																	40126872		2203	4300	6503	SO:0001583	missense	84618			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"cytosolic 5' nucleotidase, type 1A", "AMP-specific 5'-NT", "cytosolic 5'-nucleotidase IA"	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.620G>A	chr1.hg19:g.40126872C>T	ENSP00000235628:p.Arg207His		Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	hg19	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544326	0.96488	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.87712	0.6246	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91239	0.5020	9	0.72032	D	0.01	-4.9323	18.8667	0.92294	0.0:1.0:0.0:0.0	.	207	Q9BXI3	5NT1A_HUMAN	H	207	.	ENSP00000235628:R207H	R	-	2	0	NT5C1A	39899459	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	7.792000	0.85828	2.543000	0.85770	0.650000	0.86243	CGC		0.627	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		T	40126872	C	T	40126872	3	4	27	1	0	0	0	0	1	0	0	0	10687	768	27	1	494	1	NT5C1A	1	40126872	Missense_Mutation	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	22405404	40126872	209123749	2	1885											
TGFBR3	7049	hgsc.bcm.edu	37	1	92182200	92182200	+	Silent	SNP	C	C	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr1:92182200C>T	ENST00000525962.1	-	10	1693	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E	TGFBR3_ENST00000370399.2_Silent_p.E543E|TGFBR3_ENST00000212355.4_Silent_p.E544E			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	544	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TATCACCTGACTCCAGATCTT	0.463																																																0													288	298	294					1																	92182200		2203	4300	6503	SO:0001819	synonymous_variant	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1632G>A	chr1.hg19:g.92182200C>T			A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	hg19	CCDS30770.1																																																																																				0.463	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		T	92182200	C	T	92182200	2	4	27	1	0	0	0	0	0	0	0	1	15828	564	20	2		2	TGFBR3	1	92182200	Silent	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	52055328	92182200	157068421	3	1886											
GLMN	11146	hgsc.bcm.edu	37	1	92712690	92712690	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr1:92712690A>T	ENST00000370360.3	-	18	1678	c.1597T>A	c.(1597-1599)Tct>Act	p.S533T	GLMN_ENST00000534881.1_Missense_Mutation_p.S519T	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	533					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		AGATCTTTAGATTTCTGGGCC	0.338									Multiple Glomus Tumors (of the Skin), Familial																																							0													109	115	113					1																	92712690		2203	4300	6503	SO:0001583	missense	11146	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"venous malformation with glomus cells"	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1597T>A	chr1.hg19:g.92712690A>T	ENSP00000359385:p.Ser533Thr		Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	hg19	CCDS738.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542990	0.27563	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.47528	0.85;0.84	5.97	0.375	0.16188	.	0.644862	0.17527	N	0.171029	T	0.19406	0.0466	L	0.47716	1.5	0.09310	N	0.999993	B;B	0.33777	0.222;0.425	B;B	0.39971	0.122;0.315	T	0.28364	-1.0046	10	0.20046	T	0.44	-1.6953	6.4009	0.21638	0.5904:0.0:0.0699:0.3397	.	519;533	B4DJ85;Q92990	.;GLMN_HUMAN	T	533;519	ENSP00000359385:S533T;ENSP00000440156:S519T	ENSP00000359385:S533T	S	-	1	0	GLMN	92485278	0.746000	0.28272	0.903000	0.35520	0.916000	0.54674	1.332000	0.33805	0.122000	0.18314	-0.327000	0.08410	TCT		0.338	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		T	92712690	A	T	92712690	3	4	27	1	0	0	0	0	1	0	0	0	6450	333	12	5	195	5	GLMN	1	92712690	Missense_Mutation	SNP	A	TCGA-5P-A9JU-01A-11D-A42J-10	530490	92712690	156537931	4	1887											
NUF2	83540	hgsc.bcm.edu	37	1	163318835	163318835	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr1:163318835A>C	ENST00000271452.3	+	13	1504	c.1225A>C	c.(1225-1227)Aaa>Caa	p.K409Q	NUF2_ENST00000367900.3_Missense_Mutation_p.K409Q|NUF2_ENST00000524800.1_Missense_Mutation_p.K362Q	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	409	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCAACAACTAAAAGATGCTGC	0.323																																																0													58	61	60					1																	163318835		2203	4299	6502	SO:0001583	missense	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1225A>C	chr1.hg19:g.163318835A>C	ENSP00000271452:p.Lys409Gln		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	hg19	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455210	0.26161	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.35973	1.28;1.44;1.44	5.5	3.0	0.34707	.	0.231097	0.49916	D	0.000136	T	0.09069	0.0224	N	0.22421	0.69	0.22982	N	0.998474	B;B	0.14438	0.01;0.01	B;B	0.09377	0.004;0.004	T	0.16276	-1.0408	9	0.17369	T	0.5	-21.3294	10.6004	0.45362	0.6939:0.3061:0.0:0.0	.	362;409	E9PQC4;Q9BZD4	.;NUF2_HUMAN	Q	362;409;409	ENSP00000436888:K362Q;ENSP00000356875:K409Q;ENSP00000271452:K409Q	ENSP00000271452:K409Q	K	+	1	0	NUF2	161585459	0.992000	0.36948	0.215000	0.23724	0.796000	0.44982	3.395000	0.52558	1.047000	0.40274	0.533000	0.62120	AAA		0.323	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		C	163318835	A	C	163318835	3	2	27	1	0	0	0	0	1	0	0	0	10749	15	1	5	1271	5	NUF2	1	163318835	Missense_Mutation	SNP	A	TCGA-5P-A9JU-01A-11D-A42J-10	70606145	163318835	85931786	5	1888											
ABL2	27	hgsc.bcm.edu	37	1	179078368	179078368	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr1:179078368C>A	ENST00000502732.1	-	12	2237	c.2034G>T	c.(2032-2034)caG>caT	p.Q678H	ABL2_ENST00000408940.3_Missense_Mutation_p.Q642H|ABL2_ENST00000511413.1_Missense_Mutation_p.Q678H|ABL2_ENST00000507173.1_Missense_Mutation_p.Q657H|ABL2_ENST00000504405.1_Missense_Mutation_p.Q642H|ABL2_ENST00000512653.1_Missense_Mutation_p.Q663H|ABL2_ENST00000367623.4_Missense_Mutation_p.Q657H|ABL2_ENST00000344730.3_Missense_Mutation_p.Q663H	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	678					actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCTTATGGGGCTGATTCTCCA	0.512			T	ETV6	AML																																		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0													199	212	208					1																	179078368		2203	4300	6503	SO:0001583	missense	27			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2034G>T	chr1.hg19:g.179078368C>A	ENSP00000427562:p.Gln678His		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	hg19	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857571	0.17106	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.46	3.53	0.40419	.	0.000000	0.49305	D	0.000142	T	0.20170	0.0485	L	0.31752	0.955	0.80722	D	1	D;D;B;D;B;D;B;B	0.76494	0.999;0.998;0.038;0.994;0.052;0.998;0.052;0.069	D;D;B;D;B;D;B;B	0.85130	0.997;0.994;0.018;0.916;0.028;0.994;0.028;0.062	T	0.03608	-1.1020	10	0.26408	T	0.33	.	7.7144	0.28696	0.0:0.74:0.0:0.26	.	657;657;678;642;678;663;642;663	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	H	678;642;663;663;642;657;657;678	ENSP00000427562:Q678H;ENSP00000386152:Q642H;ENSP00000339209:Q663H;ENSP00000423578:Q663H;ENSP00000426831:Q642H;ENSP00000356595:Q657H;ENSP00000423413:Q657H;ENSP00000424697:Q678H	ENSP00000339209:Q663H	Q	-	3	2	ABL2	177344991	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.656000	0.24948	1.246000	0.43901	0.591000	0.81541	CAG		0.512	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		A	179078368	C	A	179078368	3	1	27	1	0	0	0	0	1	0	0	0	93	796	28	4	1518	4	ABL2	1	179078368	Missense_Mutation	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	15759533	179078368	70172253	6	1889											
C1orf25	81627	hgsc.bcm.edu	37	1	185106774	185106774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr1:185106774C>A	ENST00000367506.5	-	10	1745	c.1477G>T	c.(1477-1479)Gag>Tag	p.E493*	TRMT1L_ENST00000367504.3_Nonsense_Mutation_p.E337*	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	493	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAAATTCTCTCTTCACACCAC	0.358																																																0													141	139	140					1																	185106774		2203	4300	6503	SO:0001587	stop_gained	81627			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1477G>T	chr1.hg19:g.185106774C>A	ENSP00000356476:p.Glu493*		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Nonsense_Mutation	SNP	ENST00000367506.5	hg19	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	45	11.739919	0.99597	.	.	ENSG00000121486	ENST00000367504;ENST00000367506;ENST00000458395	.	.	.	5.82	5.82	0.92795	.	0.049538	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-19.1751	20.0812	0.97776	0.0:1.0:0.0:0.0	.	.	.	.	X	337;493;117	.	ENSP00000356474:E337X	E	-	1	0	TRMT1L	183373397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.679000	0.84048	2.744000	0.94065	0.585000	0.79938	GAG		0.358	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		A	185106774	C	A	185106774	4	1	27	1	0	0	0	0	0	1	0	0	2036	922	32	4	748	4	C1orf25	1	185106774	Nonsense_Mutation	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	6028406	185106774	64143847	7	1890											
CACNA1S	779	hgsc.bcm.edu	37	1	201009812	201009815	+	Frame_Shift_Del	DEL	GCAT	GCAT	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	GCAT	GCAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr1:201009812_201009815delGCAT	ENST00000362061.3	-	42	5387_5390	c.5161_5164delATGC	c.(5161-5166)atgctgfs	p.ML1721fs	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Frame_Shift_Del_p.ML1702fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1721					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTCCCTTCAGCATCTCCACACAG	0.613																																																0																																										SO:0001589	frameshift_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5161_5164delATGC	chr1.hg19:g.201009812_201009815delGCAT	ENSP00000355192:p.Met1721fs		A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Del	DEL	ENST00000362061.3	hg19	CCDS1407.1																																																																																				0.613	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		-	201009815	GCAT	-	201009812	7	5	27	1	0	1	0	1	0	0	0	0	2549	962	34	0	469	0	CACNA1S	1	201009812	Frame_Shift_Del	DEL	GCAT	TCGA-5P-A9JU-01A-11D-A42J-10	15903038	201009812	48240809	8	1891											
FAM89A	375061	hgsc.bcm.edu	37	1	231155814	231155814	+	Missense_Mutation	SNP	G	G	A	rs147790876		TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr1:231155814G>A	ENST00000366654.4	-	2	384	c.350C>T	c.(349-351)tCg>tTg	p.S117L	FAM89A_ENST00000494111.1_5'UTR|MIR1182_ENST00000408363.1_RNA	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	117										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTCCTGAATCGACTCGTAGAG	0.552																																																0								G	LEU/SER	0,4406		0,0,2203	72	68	69		350	5.8	1	1	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM89A	NM_198552.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	117/185	231155814	1,13005	2203	4300	6503	SO:0001583	missense	375061			BC009447	CCDS1590.1	1q42.2	2008-02-05	2005-09-13	2005-09-13	ENSG00000182118	ENSG00000182118			25057	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 153"	C1orf153		12477932	Standard	NM_198552		Approved	MGC15887	uc001hui.2	Q96GI7	OTTHUMG00000037960	ENST00000366654.4:c.350C>T	chr1.hg19:g.231155814G>A	ENSP00000355614:p.Ser117Leu			Missense_Mutation	SNP	ENST00000366654.4	hg19	CCDS1590.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971514	0.92919	0.0	1.16E-4	ENSG00000182118	ENST00000366654	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.55667	0.781	T	0.79262	-0.1876	9	0.87932	D	0	-12.6922	20.3277	0.98707	0.0:0.0:1.0:0.0	.	117	Q96GI7	FA89A_HUMAN	L	117	.	ENSP00000355614:S117L	S	-	2	0	FAM89A	229222437	1.000000	0.71417	0.995000	0.50966	0.825000	0.46686	7.783000	0.85696	2.879000	0.98667	0.650000	0.86243	TCG		0.552	FAM89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092652.1	NM_198552		A	231155814	G	A	231155814	3	1	27	1	0	0	0	0	1	0	0	0	5649	1059	37	1	208	1	FAM89A	1	231155814	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	30146002	231155814	18094807	9	1892											
ASAP2	8853	hgsc.bcm.edu	37	2	9347341	9347342	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr2:9347341_9347342delTG	ENST00000281419.3	+	1	448_449	c.108_109delTG	c.(106-111)actgtgfs	p.V37fs	ASAP2_ENST00000315273.4_Frame_Shift_Del_p.V37fs	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	37					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCCGGAACACTGTGGCGGCCAT	0.718																																																0																																										SO:0001589	frameshift_variant	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.108_109delTG	chr2.hg19:g.9347343_9347344delTG	ENSP00000281419:p.Val37fs		D6W4Y8	Frame_Shift_Del	DEL	ENST00000281419.3	hg19	CCDS1661.1																																																																																				0.718	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		-	9347342	TG	-	9347341	7	5	27	1	0	1	0	1	0	0	0	0	1011	1567	55	0	110	0	ASAP2	2	9347341	Frame_Shift_Del	DEL	TG	TCGA-5P-A9JU-01A-11D-A42J-10		9347341	233852032	10	1893											
NBAS	51594	hgsc.bcm.edu	37	2	15534394	15534394	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr2:15534394C>G	ENST00000281513.5	-	28	3239	c.3214G>C	c.(3214-3216)Gca>Cca	p.A1072P	NBAS_ENST00000441750.1_Missense_Mutation_p.A952P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1072					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCTTGCGTGCCTCTTCTGAG	0.338																																																0													57	54	55					2																	15534394		2203	4297	6500	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3214G>C	chr2.hg19:g.15534394C>G	ENSP00000281513:p.Ala1072Pro		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	hg19	CCDS1685.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	29.5|29.5|29.5	5.014392|5.014392|5.014392	0.93404|0.93404|0.93404	.|.|.	.|.|.	ENSG00000151779|ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000429842|ENST00000442506	T;T;T|.|.	0.18502|.|.	2.21;2.21;2.21|.|.	5.48|5.48|5.48	5.48|5.48|5.48	0.80851|0.80851|0.80851	Secretory pathway Sec39 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.76521|0.76521|0.76521	0.3999|0.3999|0.3999	M|M|M	0.74258|0.74258|0.74258	2.255|2.255|2.255	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.97110|.|.	0.998;1.0|.|.	T|T|T	0.75941|0.75941|0.75941	-0.3140|-0.3140|-0.3140	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	18.1585|18.1585|18.1585	0.89701|0.89701|0.89701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	952;1072|.|.	A2RRP1-2;A2RRP1|.|.	.;NBAS_HUMAN|.|.	P|A|S	952;1072;119|169|119	ENSP00000413201:A952P;ENSP00000281513:A1072P;ENSP00000396501:A119P|.|.	ENSP00000281513:A1072P|.|.	A|G|R	-|-|-	1|2|3	0|0|2	NBAS|NBAS|NBAS	15451845|15451845|15451845	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.864000|0.864000|0.864000	0.49448|0.49448|0.49448	6.752000|6.752000|6.752000	0.74898|0.74898|0.74898	2.572000|2.572000|2.572000	0.86782|0.86782|0.86782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GGC|AGG		0.338	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		G	15534394	C	G	15534394	3	3	27	1	0	0	0	0	1	0	0	0	10188	739	26	4	4001	4	NBAS	2	15534394	Missense_Mutation	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	6187053	15534394	227664979	11	1894											
USP34	9736	hgsc.bcm.edu	37	2	61433163	61433164	+	Missense_Mutation	DNP	TT	TT	CA			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr2:61433163_61433164TT>CA	ENST00000398571.2	-	72	9218_9219	c.9142_9143AA>TG	c.(9142-9144)AAt>TGt	p.N3048C	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3048					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TATACAGGCATTTCTAAGTTCT	0.381																																																0																																										SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9142_9143delinsCA	chr2.hg19:g.61433163_61433164delinsCA	ENSP00000381577:p.Asn3048Cys		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	hg19	CCDS42686.1																																																																																				0.381	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			CA	61433164	TT	CA	61433163	3	2	27	1	0	0	0	0	1	0	0	0	17070	1493	52	3	1533	3	USP34	2	61433163	Missense_Mutation	DNP	TT	TCGA-5P-A9JU-01A-11D-A42J-10	45898769	61433163	181766210	12	1895											
TTC21B	79809	hgsc.bcm.edu	37	2	166799781	166799781	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr2:166799781T>C	ENST00000243344.7	-	5	637	c.500A>G	c.(499-501)tAt>tGt	p.Y167C	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	167					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTCTTCAAAATACTTCAGTGC	0.338																																																0													122	115	117					2																	166799781		2203	4300	6503	SO:0001583	missense	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.500A>G	chr2.hg19:g.166799781T>C	ENSP00000243344:p.Tyr167Cys		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	hg19	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533262	0.27387	.	.	ENSG00000123607	ENST00000243344	T	0.65364	-0.15	5.33	-0.0208	0.13954	Tetratricopeptide-like helical (1);	0.321357	0.34386	N	0.004013	T	0.49949	0.1587	L	0.49640	1.575	0.80722	D	1	B;B	0.23540	0.087;0.01	B;B	0.26693	0.072;0.01	T	0.30297	-0.9983	10	0.51188	T	0.08	-0.3028	5.7902	0.18357	0.0:0.2217:0.1291:0.6492	.	167;167	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	C	167	ENSP00000243344:Y167C	ENSP00000243344:Y167C	Y	-	2	0	TTC21B	166508027	0.983000	0.35010	0.127000	0.21898	0.634000	0.38068	0.672000	0.25187	-0.238000	0.09724	-0.408000	0.06270	TAT		0.338	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		C	166799781	T	C	166799781	3	2	27	1	0	0	0	0	1	0	0	0	16693	1406	49	3	3550	3	TTC21B	2	166799781	Missense_Mutation	SNP	T	TCGA-5P-A9JU-01A-11D-A42J-10	105366618	166799781	76399592	13	1896											
PIKFYVE	200576	hgsc.bcm.edu	37	2	209150550	209150550	+	Silent	SNP	T	T	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr2:209150550T>C	ENST00000264380.4	+	6	872	c.714T>C	c.(712-714)gaT>gaC	p.D238D	PIKFYVE_ENST00000308862.6_Silent_p.D152D|PIKFYVE_ENST00000392202.3_Silent_p.D141D|PIKFYVE_ENST00000407449.1_Silent_p.D238D	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	238					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTCTTTCAGATTCTGCTTGCT	0.438																																																0													152	149	150					2																	209150550		2203	4300	6503	SO:0001819	synonymous_variant	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.714T>C	chr2.hg19:g.209150550T>C			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	hg19	CCDS2382.1																																																																																				0.438	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		C	209150550	T	C	209150550	2	2	27	1	0	0	0	0	0	0	0	1	11926	1490	52	3		3	PIKFYVE	2	209150550	Silent	SNP	T	TCGA-5P-A9JU-01A-11D-A42J-10	42350769	209150550	34048823	14	1897											
KIF1A	547	hgsc.bcm.edu	37	2	241658507	241658507	+	Silent	SNP	G	G	A	rs553465326		TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr2:241658507G>A	ENST00000320389.7	-	45	4985	c.4827C>T	c.(4825-4827)agC>agT	p.S1609S	KIF1A_ENST00000498729.2_Silent_p.S1710S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1609	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGTCCTTGTCGCTGTTGTACA	0.637																																																0													90	102	98					2																	241658507		2176	4284	6460	SO:0001819	synonymous_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4827C>T	chr2.hg19:g.241658507G>A			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	hg19	CCDS46561.1																																																																																				0.637	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		A	241658507	G	A	241658507	2	1	27	1	0	0	0	0	0	0	0	1	8285	1078	38	1		1	KIF1A	2	241658507	Silent	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	32507957	241658507	1540866	15	1898											
SETD2	29072	hgsc.bcm.edu	37	3	47162892	47162892	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr3:47162892delC	ENST00000409792.3	-	3	3276	c.3234delG	c.(3232-3234)ttgfs	p.L1078fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1078					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTCCATGGGCAAAGTAGAAT	0.413			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													107	104	105					3																	47162892		2203	4300	6503	SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3234delG	chr3.hg19:g.47162892delC	ENSP00000386759:p.Leu1078fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	hg19	CCDS2749.2																																																																																				0.413	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47162892	C	-	47162892	7	5	27	1	0	1	0	1	0	0	0	0	14137	709	25	0	4536	0	SETD2	3	47162892	Frame_Shift_Del	DEL	C	TCGA-5P-A9JU-01A-11D-A42J-10		47162892	150859538	16	1899											
PBRM1	55193	hgsc.bcm.edu	37	3	52597437	52597437	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr3:52597437delA	ENST00000296302.7	-	24	3949	c.3948delT	c.(3946-3948)tttfs	p.F1316fs	RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.F1284fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.F1316fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.F1291fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.F1291fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.F1331fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.F1331fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.F1316fs			Q86U86	PB1_HUMAN	polybromo 1	1316					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTAACTCGGCAAATTTAGCTT	0.423			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													148	132	137					3																	52597437		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3948delT	chr3.hg19:g.52597437delA	ENSP00000296302:p.Phe1316fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	hg19																																																																																					0.423	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52597437	A	-	52597437	7	5	27	1	0	1	0	1	0	0	0	0	11493	127	5	0	980	0	PBRM1	3	52597437	Frame_Shift_Del	DEL	A	TCGA-5P-A9JU-01A-11D-A42J-10	5434545	52597437	145424993	17	1900											
TBC1D23	55773	hgsc.bcm.edu	37	3	100025388	100025388	+	Splice_Site	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr3:100025388G>A	ENST00000394144.4	+	13	1420		c.e13+1		TBC1D23_ENST00000475134.1_Splice_Site|TBC1D23_ENST00000486274.1_Splice_Site|TBC1D23_ENST00000344949.5_Splice_Site	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23						positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TTCTGTTGATGTAAGTATATG	0.408																																																0													92	77	82					3																	100025388		2203	4300	6503	SO:0001630	splice_region_variant	55773			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1413+1G>A	chr3.hg19:g.100025388G>A			B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Splice_Site	SNP	ENST00000394144.4	hg19	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609777	0.87258	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.712	0.88324	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D23	101508078	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.962000	0.93254	2.785000	0.95823	0.655000	0.94253	.		0.408	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309	Intron	A	100025388	G	A	100025388	5	1	27	1	0	0	0	0	0	0	1	0	15618	1391	48	2	1464	2	TBC1D23	3	100025388	Splice_Site	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	47427951	100025388	97997042	18	1901											
PCCB	5096	hgsc.bcm.edu	37	3	135974705	135974706	+	Frame_Shift_Ins	INS	-	-	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr3:135974705_135974706insA	ENST00000251654.4	+	2	261_262	c.191_192insA	c.(190-195)ctaacafs	p.T65fs	PCCB_ENST00000462637.1_Frame_Shift_Ins_p.T65fs|PCCB_ENST00000468777.1_Frame_Shift_Ins_p.T65fs|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000466072.1_Frame_Shift_Ins_p.T65fs|PCCB_ENST00000483687.1_Frame_Shift_Ins_p.T65fs|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000478469.1_Frame_Shift_Ins_p.T65fs|PCCB_ENST00000469217.1_Frame_Shift_Ins_p.T65fs|PCCB_ENST00000471595.1_Frame_Shift_Ins_p.T65fs|PCCB_ENST00000490504.1_Frame_Shift_Ins_p.T65fs	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	65	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TAGGGAAAGCTAACAGCCAGGG	0.48																																																0																																										SO:0001589	frameshift_variant	5096				CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"propionyl Coenzyme A carboxylase, beta polypeptide"			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.193dupA	chr3.hg19:g.135974707_135974707dupA	ENSP00000251654:p.Thr65fs		B7Z2Z4|Q16813|Q96CX0	Frame_Shift_Ins	INS	ENST00000251654.4	hg19	CCDS3089.1																																																																																				0.48	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			A	135974706	-	A	135974705	7	5	27	1	0	1	1	0	0	0	0	0	11507	1522	53	0	197	0	PCCB	3	135974705	Frame_Shift_Ins	INS	-	TCGA-5P-A9JU-01A-11D-A42J-10	35949317	135974705	62047725	19	1902											
WWTR1	25937	hgsc.bcm.edu	37	3	149374844	149374844	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr3:149374844G>C	ENST00000465804.1	-	3	506	c.250C>G	c.(250-252)Cat>Gat	p.H84D	WWTR1-AS1_ENST00000495094.1_RNA|WWTR1_ENST00000467467.1_Missense_Mutation_p.H84D|WWTR1-AS1_ENST00000479752.1_RNA|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.H84D	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	84					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAGCGGACATGCTGGGCACCC	0.726			T	CAMTA1	epitheliod hemangioendothelioma																																		Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0													6	8	7					3																	149374844		2132	4104	6236	SO:0001583	missense	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.250C>G	chr3.hg19:g.149374844G>C	ENSP00000419465:p.His84Asp		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	hg19	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195253	0.94960	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000479238;ENST00000485352;ENST00000475579	T;T;T;T	0.53640	0.62;0.62;0.62;0.61	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.69387	0.3105	M	0.74467	2.265	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.72010	-0.4419	10	0.54805	T	0.06	-25.132	18.4973	0.90869	0.0:0.0:1.0:0.0	.	84	Q9GZV5	WWTR1_HUMAN	D	84	ENSP00000419465:H84D;ENSP00000353847:H84D;ENSP00000419234:H84D;ENSP00000418580:H84D	ENSP00000353847:H84D	H	-	1	0	WWTR1	150857534	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.333000	0.96459	2.360000	0.80028	0.462000	0.41574	CAT		0.726	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		C	149374844	G	C	149374844	3	2	27	1	0	0	0	0	1	0	0	0	17422	1319	46	4	976	4	WWTR1	3	149374844	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	13400139	149374844	48647586	20	1903											
ZNF141	7700	hgsc.bcm.edu	37	4	367429	367430	+	In_Frame_Ins	INS	-	-	ACA			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr4:367429_367430insACA	ENST00000240499.7	+	4	1352_1353	c.1203_1204insACA	c.(1204-1206)aaa>ACAaaa	p.401_402insT	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	401					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAGAATGTGGCAAAGCCTTTAG	0.386																																																0																																										SO:0001652	inframe_insertion	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		Exception_encountered	chr4.hg19:g.367429_367430insACA	ENSP00000240499:p.Gly401_Lys402insThr		Q6DK07	In_Frame_Ins	INS	ENST00000240499.7	hg19	CCDS33931.1																																																																																				0.386	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		ACA	367430	-	ACA	367429	7	5	27	1	0	1	1	0	0	0	0	0	17735	697	25	0	1217	0	ZNF141	4	367429	In_Frame_Ins	INS	-	TCGA-5P-A9JU-01A-11D-A42J-10		367429	190786847	21	1904											
FGFRL1	53834	hgsc.bcm.edu	37	4	1018294	1018294	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr4:1018294T>A	ENST00000398484.2	+	7	1494	c.914T>A	c.(913-915)gTg>gAg	p.V305E	FGFRL1_ENST00000510644.1_Missense_Mutation_p.V305E|FGFRL1_ENST00000264748.6_Missense_Mutation_p.V305E|FGFRL1_ENST00000504138.1_Missense_Mutation_p.V305E			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	305	Ig-like C2-type 3.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AAGTTTGTGGTGCTGCCCACG	0.652																																																0													53	53	53					4																	1018294		2203	4298	6501	SO:0001583	missense	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.914T>A	chr4.hg19:g.1018294T>A	ENSP00000381498:p.Val305Glu		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	hg19	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	t	26.7	4.758736	0.89843	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83076	-0.0140	10	0.26408	T	0.33	-23.5219	14.6694	0.68932	0.0:0.0:0.0:1.0	.	305	Q8N441	FGRL1_HUMAN	E	305;275;305;305;305	ENSP00000381498:V305E;ENSP00000425025:V305E;ENSP00000423091:V305E;ENSP00000264748:V305E	ENSP00000264748:V305E	V	+	2	0	FGFRL1	1008294	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.872000	0.63050	2.062000	0.61559	0.478000	0.44815	GTG		0.652	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		A	1018294	T	A	1018294	3	1	27	1	0	0	0	0	1	0	0	0	5871	1696	59	5	932	5	FGFRL1	4	1018294	Missense_Mutation	SNP	T	TCGA-5P-A9JU-01A-11D-A42J-10	650865	1018294	190135982	22	1905											
DSPP	1834	hgsc.bcm.edu	37	4	88536436	88536436	+	Silent	SNP	C	C	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr4:88536436C>T	ENST00000282478.7	+	4	2655	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	DSPP_ENST00000399271.1_Silent_p.S874S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	874	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagcaacagcagtg	0.502																																																0													70	85	79					4																	88536436		1641	2936	4577	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2622C>T	chr4.hg19:g.88536436C>T			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	hg19	CCDS43248.1																																																																																				0.502	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536436	C	T	88536436	2	4	27	1	0	0	0	0	0	0	0	1	4784	709	25	2		2	DSPP	4	88536436	Silent	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	87518142	88536436	102617840	23	1906											
GLRB	2743	hgsc.bcm.edu	37	4	157999276	157999277	+	In_Frame_Ins	INS	-	-	AGAAGCAGTATCTATGCCCATCGTATGTTCTTCATGTCTTATATT			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr4:157999276_157999277insAGAAGCAGTATCTATGCCCATCGTATGTTCTTCATGTCTTATATT	ENST00000264428.4	+	2	370_371	c.100_101insAGAAGCAGTATCTATGCCCATCGTATGTTCTTCATGTCTTATATT	c.(100-102)aag>aAGAAGCAGTATCTATGCCCATCGTATGTTCTTCATGTCTTATATTag	p.34_35insKQYLCPSYVLHVLY*	GLRB_ENST00000512619.1_In_Frame_Ins_p.34_35insKQYLCPSYVLHVLY*|GLRB_ENST00000541722.1_In_Frame_Ins_p.34_35insKQYLCPSYVLHVLY*|GLRB_ENST00000509282.1_In_Frame_Ins_p.34_35insKQYLCPSYVLHVLY*	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	34					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GAAGGGGAAAAAGAAGCAGTAT	0.337																																																0																																										SO:0001652	inframe_insertion	2743			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	Exception_encountered	chr4.hg19:g.157999276_157999277insAGAAGCAGTATCTATGCCCATCGTATGTTCTTCATGTCTTATATT	ENSP00000264428:p.Lys34_Lys35insLysGlnTyrLeuCysProSerTyrValLeuHisValLeuTyr*		A8K3K2|D3DP23|F5GWE1	In_Frame_Ins	INS	ENST00000264428.4	hg19	CCDS3796.1																																																																																				0.337	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		AGAAGCAGTATCTATGCCCATCGTATGTTCTTCATGTCTTATATT	157999277	-	AGAAGCAGTATCTATGCCCATCGTATGTTCTTCATGTCTTATATT	157999276	7	5	27	1	0	1	1	0	0	0	0	0	6460	15	1	0	102	0	GLRB	4	157999276	In_Frame_Ins	INS	-	TCGA-5P-A9JU-01A-11D-A42J-10	69462840	157999276	33155000	24	1907											
SLC12A7	10723	hgsc.bcm.edu	37	5	1094341	1094342	+	In_Frame_Ins	INS	-	-	TTT	rs376148374		TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr5:1094341_1094342insTTT	ENST00000264930.5	-	2	189_190	c.146_147insAAA	c.(145-147)aac>aaAAAc	p.48_49insK		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	48					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGAATGGGCTGTTTTCTCTTGG	0.421																																																0																																										SO:0001652	inframe_insertion	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.144_146dupAAA	chr5.hg19:g.1094342_1094344dupTTT	ENSP00000264930:p.Glu48_Asn49insLys		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	In_Frame_Ins	INS	ENST00000264930.5	hg19	CCDS34129.1																																																																																				0.421	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		TTT	1094342	-	TTT	1094341	7	5	27	1	0	1	1	0	0	0	0	0	14394	1368	48	0	3196	0	SLC12A7	5	1094341	In_Frame_Ins	INS	-	TCGA-5P-A9JU-01A-11D-A42J-10		1094341	179820919	25	1908											
FAM172A	83989	hgsc.bcm.edu	37	5	93217216	93217216	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr5:93217216delT	ENST00000395965.3	-	7	888	c.746delA	c.(745-747)aacfs	p.N249fs	FAM172A_ENST00000509163.1_Frame_Shift_Del_p.N203fs|FAM172A_ENST00000505869.1_Frame_Shift_Del_p.N139fs|FAM172A_ENST00000509739.1_Frame_Shift_Del_p.N102fs	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	249						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCTTTGGGGGTTACGATACTT	0.318																																																0													183	177	179					5																	93217216		2203	4299	6502	SO:0001589	frameshift_variant	83989				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 21"	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.746delA	chr5.hg19:g.93217216delT	ENSP00000379294:p.Asn249fs		B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Frame_Shift_Del	DEL	ENST00000395965.3	hg19	CCDS4069.1																																																																																				0.318	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		-	93217216	T	-	93217216	7	5	27	1	0	1	0	1	0	0	0	0	5494	1725	60	0	524	0	FAM172A	5	93217216	Frame_Shift_Del	DEL	T	TCGA-5P-A9JU-01A-11D-A42J-10	92122875	93217216	87698044	26	1909											
RNF216	54476	hgsc.bcm.edu	37	7	5792508	5792510	+	In_Frame_Del	DEL	TCT	TCT	-	rs370004752		TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr7:5792508_5792510delTCT	ENST00000425013.2	-	3	392_394	c.168_170delAGA	c.(166-171)gaagag>gag	p.56_57EE>E	RNF216_ENST00000389902.3_In_Frame_Del_p.56_57EE>E	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	56					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATCCAGGTCCTCTTCTTCATGCT	0.453																																																0																																										SO:0001651	inframe_deletion	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.168_170delAGA	chr7.hg19:g.5792511_5792513delTCT	ENSP00000404602:p.Glu57del		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	In_Frame_Del	DEL	ENST00000425013.2	hg19	CCDS34595.1																																																																																				0.453	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		-	5792510	TCT	-	5792508	7	5	27	1	0	1	0	1	0	0	0	0	13486	1551	54	0	2661	0	RNF216	7	5792508	In_Frame_Del	DEL	TCT	TCGA-5P-A9JU-01A-11D-A42J-10		5792508	153346155	27	1910											
PCLO	27445	hgsc.bcm.edu	37	7	82581488	82581488	+	Missense_Mutation	SNP	T	T	A	rs10630259|rs10694231	byFrequency	TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr7:82581488T>A	ENST00000333891.9	-	5	9118	c.8781A>T	c.(8779-8781)gaA>gaT	p.E2927D	PCLO_ENST00000423517.2_Missense_Mutation_p.E2927D|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAACGGGTTTTTCATCTTCTA	0.433																																																0													123	122	123					7																	82581488		1902	4128	6030	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8781A>T	chr7.hg19:g.82581488T>A	ENSP00000334319:p.Glu2927Asp			Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	8.487	0.861147	0.17178	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20881	2.1;2.04	5.67	0.321	0.15883	.	.	.	.	.	T	0.08980	0.0222	N	0.11201	0.11	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.12156	0.007;0.007	T	0.18587	-1.0332	9	0.87932	D	0	.	2.0445	0.03557	0.1172:0.1463:0.2418:0.4947	.	2927;2927	Q9Y6V0-5;Q9Y6V0-6	.;.	D	2858;2927;2927	ENSP00000334319:E2927D;ENSP00000388393:E2927D	ENSP00000334319:E2927D	E	-	3	2	PCLO	82419424	0.964000	0.33143	0.999000	0.59377	0.737000	0.42083	0.165000	0.16564	0.413000	0.25759	0.455000	0.32223	GAA		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82581488	T	A	82581488	3	1	27	1	0	0	0	0	1	0	0	0	11585	1838	64	5	6748	5	PCLO	7	82581488	Missense_Mutation	SNP	T	TCGA-5P-A9JU-01A-11D-A42J-10	76788980	82581488	76557175	28	1911											
TRIP6	7205	hgsc.bcm.edu	37	7	100468243	100468243	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr7:100468243G>C	ENST00000200457.4	+	6	1237	c.877G>C	c.(877-879)Gtt>Ctt	p.V293L		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	293	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGGGCTGGGGTTGTGGCCCT	0.602																																																0													195	176	182					7																	100468243		2203	4300	6503	SO:0001583	missense	7205			L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.877G>C	chr7.hg19:g.100468243G>C	ENSP00000200457:p.Val293Leu		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	hg19	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.552765	0.86127	.	.	ENSG00000087077	ENST00000200457	T	0.42900	0.96	5.79	5.79	0.91817	Zinc finger, LIM-type (5);	0.119641	0.64402	D	0.000019	T	0.41811	0.1175	N	0.13235	0.315	0.39933	D	0.974314	P	0.50819	0.939	P	0.57720	0.826	T	0.38200	-0.9672	10	0.46703	T	0.11	.	12.4811	0.55842	0.0:0.0:0.8328:0.1672	.	293	Q15654	TRIP6_HUMAN	L	293	ENSP00000200457:V293L	ENSP00000200457:V293L	V	+	1	0	TRIP6	100306179	1.000000	0.71417	0.969000	0.41365	0.832000	0.47134	5.454000	0.66651	2.737000	0.93849	0.645000	0.84053	GTT		0.602	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		C	100468243	G	C	100468243	3	2	27	1	0	0	0	0	1	0	0	0	16564	1261	44	4	899	4	TRIP6	7	100468243	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	17886755	100468243	58670420	29	1912											
SSPO	23145	hgsc.bcm.edu	37	7	149476014	149476014	+	RNA	SNP	A	A	G			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr7:149476014A>G	ENST00000378016.2	+	0	980							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCTCTACAATGGCTGGCCA	0.627																																																0													119	138	131					7																	149476014		2025	4190	6215			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		chr7.hg19:g.149476014A>G			Q76B61	Missense_Mutation	SNP	ENST00000378016.2	hg19																																																																																					0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149476014	A	G	149476014	1	3	27	0	1	0	0	0	0	0	0	0	15194	101	4	3		3	SSPO	7	149476014	RNA	SNP	A	TCGA-5P-A9JU-01A-11D-A42J-10	49007771	149476014	9662649	30	1913											
RP1L1	94137	hgsc.bcm.edu	37	8	10466011	10466031	+	In_Frame_Del	DEL	TCCCCTTCAGCCTCCTGGGCA	TCCCCTTCAGCCTCCTGGGCA	-	rs199577777|rs199959237|rs535482422|rs558932296|rs527932965|rs542254783	byFrequency	TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	TCCCCTTCAGCCTCCTGGGCA	TCCCCTTCAGCCTCCTGGGCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr8:10466011_10466031delTCCCCTTCAGCCTCCTGGGCA	ENST00000382483.3	-	4	5800_5820	c.5577_5597delTGCCCAGGAGGCTGAAGGGGA	c.(5575-5598)gatgcccaggaggctgaaggggag>gag	p.DAQEAEG1859del		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1939					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1862E(1)|p.D1859E(1)|p.Q1861P(1)|p.A1863D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGCTGGGCCTCCCCTTCAGCCTCCTGGGCATCCCCTTCTG	0.629																																																4	Substitution - Missense(3)|Substitution - coding silent(1)	lung(4)																																								SO:0001651	inframe_deletion	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5577_5597delTGCCCAGGAGGCTGAAGGGGA	chr8.hg19:g.10466011_10466031delTCCCCTTCAGCCTCCTGGGCA	ENSP00000371923:p.Asp1859_Gly1865del		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	ENST00000382483.3	hg19	CCDS43708.1																																																																																				0.629	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			-	10466031	TCCCCTTCAGCCTCCTGGGCA	-	10466011	7	5	27	1	0	1	0	1	0	0	0	0	13539	1551	54	0	1609	0	RP1L1	8	10466011	In_Frame_Del	DEL	TCCCCTTCAGCCTCCTGGGCA	TCGA-5P-A9JU-01A-11D-A42J-10		10466011	135898011	31	1914											
INTS8	55656	hgsc.bcm.edu	37	8	95835690	95835690	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr8:95835690G>A	ENST00000523731.1	+	1	164	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	INTS8_ENST00000447247.1_Missense_Mutation_p.A11T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	11					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CCGGGAGGCGGCCACCTCCAG	0.706																																																0													7	8	8					8																	95835690		1952	3843	5795	SO:0001583	missense	55656			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.31G>A	chr8.hg19:g.95835690G>A	ENSP00000430338:p.Ala11Thr		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	hg19	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	g	14.75	2.627809	0.46944	.	.	ENSG00000164941	ENST00000519457;ENST00000523731;ENST00000447247	.	.	.	5.09	3.23	0.37069	.	0.221578	0.46442	N	0.000289	T	0.51719	0.1691	L	0.44542	1.39	0.44937	D	0.997952	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.53265	-0.8463	9	0.54805	T	0.06	-16.2241	10.3689	0.44042	0.0715:0.0:0.7951:0.1334	.	11;11	Q75QN2;Q75QN2-2	INT8_HUMAN;.	T	11	.	ENSP00000343274:A11T	A	+	1	0	INTS8	95904866	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	6.519000	0.73768	1.347000	0.45714	-0.187000	0.12897	GCC		0.706	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		A	95835690	G	A	95835690	3	1	27	1	0	0	0	0	1	0	0	0	7786	1203	42	2	33	2	INTS8	8	95835690	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	85369679	95835690	50528332	32	1915											
DSCC1	79075	hgsc.bcm.edu	37	8	120854141	120854141	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr8:120854141C>A	ENST00000313655.4	-	7	1031	c.817G>T	c.(817-819)Gca>Tca	p.A273S		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	273					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGCATTCGTGCTGCTGCTCTA	0.358																																																0													107	92	97					8																	120854141		2203	4300	6503	SO:0001583	missense	79075				CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"	613203	"defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.817G>T	chr8.hg19:g.120854141C>A	ENSP00000322180:p.Ala273Ser		Q969N5	Missense_Mutation	SNP	ENST00000313655.4	hg19	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	c	24.4	4.524072	0.85600	.	.	ENSG00000136982	ENST00000313655	T	0.56444	0.46	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.80324	-0.1430	10	0.62326	D	0.03	-18.737	20.8449	0.99727	0.0:1.0:0.0:0.0	.	273	Q9BVC3	DCC1_HUMAN	S	273	ENSP00000322180:A273S	ENSP00000322180:A273S	A	-	1	0	DSCC1	120923322	1.000000	0.71417	0.537000	0.28052	0.354000	0.29330	7.342000	0.79310	2.933000	0.99390	0.645000	0.84053	GCA		0.358	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		A	120854141	C	A	120854141	3	1	27	1	0	0	0	0	1	0	0	0	4772	797	28	4	376	4	DSCC1	8	120854141	Missense_Mutation	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	25018451	120854141	25509881	33	1916											
FAM91A1	157769	hgsc.bcm.edu	37	8	124811759	124811759	+	Splice_Site	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr8:124811759G>A	ENST00000334705.7	+	17	1806		c.e17-1		FAM91A1_ENST00000521166.1_Splice_Site	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1											breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TATGATTGTAGCATATTGGAC	0.358																																																0													107	95	99					8																	124811759		1869	4092	5961	SO:0001630	splice_region_variant	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1561-1G>A	chr8.hg19:g.124811759G>A			B6YY23|Q658T5|Q8TE89	Splice_Site	SNP	ENST00000334705.7	hg19	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505033	0.85282	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6151	0.95630	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM91A1	124880940	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	7.885000	0.87282	2.710000	0.92621	0.643000	0.83706	.		0.358	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963	Intron	A	124811759	G	A	124811759	5	1	27	1	0	0	0	0	0	0	1	0	5653	985	34	2	1626	2	FAM91A1	8	124811759	Splice_Site	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	3957618	124811759	21552263	34	1917											
C8orf73	642475	hgsc.bcm.edu	37	8	144653908	144653908	+	Silent	SNP	C	C	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr8:144653908C>T	ENST00000398882.3	-	3	787	c.531G>A	c.(529-531)ctG>ctA	p.L177L	MROH6_ENST00000533679.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000534459.1_5'Flank|MROH6_ENST00000524906.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	177																	CCAGTGCGCTCAGCACTCGCA	0.726																																																0													10	15	13					8																	144653908		2065	4106	6171	SO:0001819	synonymous_variant	642475			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.531G>A	chr8.hg19:g.144653908C>T			A8MWB1	Silent	SNP	ENST00000398882.3	hg19	CCDS47928.1																																																																																				0.726	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		T	144653908	C	T	144653908	2	4	27	1	0	0	0	0	0	0	0	1	2437	813	29	2		2	C8orf73	8	144653908	Silent	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	19842149	144653908	1710114	35	1918											
C9orf86	55684	hgsc.bcm.edu	37	9	139718091	139718091	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr9:139718091G>T	ENST00000311502.7	+	2	481	c.245G>T	c.(244-246)aGc>aTc	p.S82I	RABL6_ENST00000432842.2_Missense_Mutation_p.S44I|RABL6_ENST00000371663.4_Missense_Mutation_p.S82I|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000357466.2_Missense_Mutation_p.S82I|RABL6_ENST00000371671.4_Missense_Mutation_p.S82I|RABL6_ENST00000371675.3_5'Flank			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	82	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CAGGTCACCAGCATCCACTGG	0.637																																																0													37	44	42					9																	139718091		2061	4181	6242	SO:0001583	missense	55684			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.245G>T	chr9.hg19:g.139718091G>T	ENSP00000311134:p.Ser82Ile		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	hg19	CCDS48058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.64|18.64	3.667015|3.667015	0.67814|0.67814	.|.	.|.	ENSG00000196642|ENSG00000196642	ENST00000436380|ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842	.|T;T;T;T;T	.|0.66815	.|-0.23;-0.23;-0.23;-0.23;-0.23	4.31|4.31	4.31|4.31	0.51392|0.51392	.|Mitochondrial Rho-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.82029|0.82029	0.4948|0.4948	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P	.|0.76494	.|0.998;0.993;0.999;0.999;0.745	.|D;D;D;D;P	.|0.87578	.|0.986;0.958;0.997;0.998;0.447	D|D	0.85292|0.85292	0.1068|0.1068	5|10	.|0.72032	.|D	.|0.01	-22.9255|-22.9255	15.3476|15.3476	0.74350|0.74350	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|82;82;82;82;82	.|A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4	.|.;.;.;PARF_HUMAN;.	H|I	38|82;82;82;82;82;44	.|ENSP00000360727:S82I;ENSP00000360736:S82I;ENSP00000311134:S82I;ENSP00000350056:S82I;ENSP00000414081:S44I	.|ENSP00000311134:S82I	Q|S	+|+	3|2	2|0	C9orf86|C9orf86	138837912|138837912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	9.203000|9.203000	0.95033|0.95033	1.935000|1.935000	0.56089|0.56089	0.313000|0.313000	0.20887|0.20887	CAG|AGC		0.637	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		T	139718091	G	T	139718091	3	4	27	1	0	0	0	0	1	0	0	0	2504	971	34	4	251	4	C9orf86	9	139718091	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10		139718091	1495340	36	1919											
ZNF248	57209	hgsc.bcm.edu	37	10	38120750	38120750	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr10:38120750T>G	ENST00000395867.3	-	6	2083	c.1533A>C	c.(1531-1533)caA>caC	p.Q511H	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000357328.4_Missense_Mutation_p.Q511H	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGTGAGTTCTTTGATGTACAA	0.423																																																0													111	107	108					10																	38120750		2203	4299	6502	SO:0001583	missense	57209			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"Zinc fingers, C2H2-type", "-"	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1533A>C	chr10.hg19:g.38120750T>G	ENSP00000379208:p.Gln511His		Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	hg19	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165662	0.38217	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.36520	1.25;1.25	4.52	-0.28	0.12886	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000237	T	0.38081	0.1027	L	0.43923	1.385	0.28002	N	0.935245	D	0.61080	0.989	P	0.56127	0.792	T	0.25572	-1.0128	10	0.51188	T	0.08	.	8.0331	0.30476	0.0:0.4007:0.0:0.5993	.	511	Q8NDW4	ZN248_HUMAN	H	511	ENSP00000379208:Q511H;ENSP00000349882:Q511H	ENSP00000349882:Q511H	Q	-	3	2	ZNF248	38160756	0.187000	0.23238	0.999000	0.59377	0.997000	0.91878	0.299000	0.19138	0.059000	0.16252	0.528000	0.53228	CAA		0.423	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		G	38120750	T	G	38120750	3	3	27	1	0	0	0	0	1	0	0	0	17798	1838	64	5	210	5	ZNF248	10	38120750	Missense_Mutation	SNP	T	TCGA-5P-A9JU-01A-11D-A42J-10		38120750	97413997	37	1920											
CCAR1	55749	hgsc.bcm.edu	37	10	70550999	70550999	+	Silent	SNP	C	C	G			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr10:70550999C>G	ENST00000265872.6	+	25	3548	c.3429C>G	c.(3427-3429)tcC>tcG	p.S1143S	CCAR1_ENST00000543719.1_Silent_p.S1128S|CCAR1_ENST00000535016.1_Silent_p.S1128S	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	1143					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATCAAAAATCCAAGGAGAATG	0.264																																																0													69	76	74					10																	70550999		2200	4285	6485	SO:0001819	synonymous_variant	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.3429C>G	chr10.hg19:g.70550999C>G			A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	hg19	CCDS7282.1																																																																																				0.264	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		G	70550999	C	G	70550999	2	3	27	1	0	0	0	0	0	0	0	1	2732	581	21	4		4	CCAR1	10	70550999	Silent	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	32430249	70550999	64983748	38	1921											
GPR26	2849	hgsc.bcm.edu	37	10	125447637	125447637	+	Silent	SNP	C	C	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr10:125447637C>T	ENST00000284674.1	+	3	1028	c.975C>T	c.(973-975)ggC>ggT	p.G325G		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	325					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCCTCACAGGCGACTCTCACA	0.562																																																0													47	43	44					10																	125447637		2203	4300	6503	SO:0001819	synonymous_variant	2849				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.975C>T	chr10.hg19:g.125447637C>T			Q2M2E2	Silent	SNP	ENST00000284674.1	hg19	CCDS7636.1																																																																																				0.562	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			T	125447637	C	T	125447637	2	4	27	1	0	0	0	0	0	0	0	1	6686	755	27	1		1	GPR26	10	125447637	Silent	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	54896638	125447637	10087110	39	1922											
PTDSS2	81490	hgsc.bcm.edu	37	11	460237	460243	+	Frame_Shift_Del	DEL	ATGTGAC	ATGTGAC	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	ATGTGAC	ATGTGAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr11:460237_460243delATGTGAC	ENST00000308020.5	+	2	409_415	c.233_239delATGTGAC	c.(232-240)tatgtgacgfs	p.YVT78fs	RP13-317D12.3_ENST00000525893.1_RNA	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	78					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	ACGCTTGGCTATGTGACGCTGCTGGAG	0.56																																																0																																										SO:0001589	frameshift_variant	81490			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.233_239delATGTGAC	chr11.hg19:g.460237_460243delATGTGAC	ENSP00000308258:p.Tyr78fs			Frame_Shift_Del	DEL	ENST00000308020.5	hg19	CCDS7696.1																																																																																				0.56	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			-	460243	ATGTGAC	-	460237	7	5	27	1	0	1	0	1	0	0	0	0	12742	449	16	0	239	0	PTDSS2	11	460237	Frame_Shift_Del	DEL	ATGTGAC	TCGA-5P-A9JU-01A-11D-A42J-10		460237	134546279	40	1923											
IRF7	3665	hgsc.bcm.edu	37	11	613956	613956	+	Missense_Mutation	SNP	G	G	A	rs571836045		TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr11:613956G>A	ENST00000397574.2	-	7	1130	c.761C>T	c.(760-762)aCg>aTg	p.T254M	IRF7_ENST00000330243.5_Missense_Mutation_p.T267M|IRF7_ENST00000397570.1_Intron|IRF7_ENST00000348655.6_Intron|IRF7_ENST00000525445.1_Missense_Mutation_p.T148M|IRF7_ENST00000397566.1_Missense_Mutation_p.T267M|IRF7_ENST00000397562.3_De_novo_Start_OutOfFrame	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	254					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCACCTGTCGTTAGTGCCGC	0.697													g|||	1	0.000199681	0.0008	0.0	5008	,	,		8770	0.0		0.0	False		,,,				2504	0.0															0													14	18	16					11																	613956		2195	4293	6488	SO:0001583	missense	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.761C>T	chr11.hg19:g.613956G>A	ENSP00000380704:p.Thr254Met		B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	hg19	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	g	5.627	0.300345	0.10678	.	.	ENSG00000185507	ENST00000525445;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D	0.96011	-2.92;-3.83;-3.88;-3.83	2.06	-1.94	0.07571	.	.	.	.	.	D	0.84831	0.5559	N	0.03608	-0.345	0.22521	N	0.999023	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.73849	-0.3853	9	0.30854	T	0.27	.	6.3773	0.21515	0.5791:0.0:0.4209:0.0	.	148;254;267	E9PSE3;Q92985;Q92985-4	.;IRF7_HUMAN;.	M	148;267;254;267	ENSP00000434009:T148M;ENSP00000380697:T267M;ENSP00000380704:T254M;ENSP00000329411:T267M	ENSP00000329411:T267M	T	-	2	0	IRF7	603956	0.000000	0.05858	0.002000	0.10522	0.033000	0.12548	-2.121000	0.01322	-0.521000	0.06426	-0.994000	0.02522	ACG		0.697	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		A	613956	G	A	613956	3	1	27	1	0	0	0	0	1	0	0	0	7837	1145	40	1	770	1	IRF7	11	613956	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	153719	613956	134392560	41	1924											
MUC2	4583	hgsc.bcm.edu	37	11	1093323	1093323	+	Silent	SNP	C	C	T	rs7948036		TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr11:1093323C>T	ENST00000441003.2	+	30	5169	c.5142C>T	c.(5140-5142)acC>acT	p.T1714T	MUC2_ENST00000359061.5_Silent_p.T1681T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T2T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	caacacccaccggcacacaga	0.637																																																0								C		29,3837		0,29,1904	171	218	202		5139	-0.5	0	11	dbSNP_116	202	60,7230		0,60,3585	no	coding-synonymous	MUC2	NM_002457.2		0,89,5489	TT,TC,CC		0.823,0.7501,0.7978		1713/2813	1093323	89,11067	1933	3645	5578	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5142C>T	chr11.hg19:g.1093323C>T			Q14878	Silent	SNP	ENST00000441003.2	hg19																																																																																					0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1093323	C	T	1093323	2	4	27	1	0	0	0	0	0	0	0	1	9977	639	23	1		1	MUC2	11	1093323	Silent	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	479367	1093323	133913193	42	1925											
OR51B4	79339	hgsc.bcm.edu	37	11	5323073	5323073	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr11:5323073G>A	ENST00000380224.1	-	1	153	c.104C>T	c.(103-105)tCc>tTc	p.S35F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	35					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(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAAGGACGGAGAAGTAGAT	0.498																																																0													93	93	93					11																	5323073		2201	4297	6498	SO:0001583	missense	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.104C>T	chr11.hg19:g.5323073G>A	ENSP00000369573:p.Ser35Phe		A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	hg19	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	G	9.110	1.006205	0.19199	.	.	ENSG00000183251	ENST00000380224	T	0.03242	4.0	4.39	-0.842	0.10748	.	0.448981	0.18455	N	0.140712	T	0.02727	0.0082	N	0.25485	0.75	0.09310	N	1	B	0.17268	0.021	B	0.19946	0.027	T	0.38308	-0.9667	10	0.59425	D	0.04	.	5.8023	0.18420	0.3677:0.2394:0.3928:0.0	.	35	Q9Y5P0	O51B4_HUMAN	F	35	ENSP00000369573:S35F	ENSP00000369573:S35F	S	-	2	0	OR51B4	5279649	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.874000	0.28065	-0.689000	0.05149	-0.795000	0.03280	TCC		0.498	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		A	5323073	G	A	5323073	3	1	27	1	0	0	0	0	1	0	0	0	11092	1174	41	2	831	2	OR51B4	11	5323073	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	4229750	5323073	129683443	43	1926											
TTC17	55761	hgsc.bcm.edu	37	11	43469573	43469573	+	Missense_Mutation	SNP	G	G	A	rs150211914		TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr11:43469573G>A	ENST00000039989.4	+	19	2701	c.2687G>A	c.(2686-2688)cGt>cAt	p.R896H		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	896					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GACTACCAGCGTCTGGGATGG	0.498																																																0								G	HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	85	80	82		2687	6.1	1	11	dbSNP_134	82	0,8600		0,0,4300	no	missense	TTC17	NM_018259.5	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	896/1142	43469573	2,13004	2203	4300	6503	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2687G>A	chr11.hg19:g.43469573G>A	ENSP00000039989:p.Arg896His		G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	hg19	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303374	0.60195	4.54E-4	0.0	ENSG00000052841	ENST00000039989	T	0.30182	1.54	6.07	6.07	0.98685	.	0.040651	0.85682	D	0.000000	T	0.12774	0.0310	N	0.08118	0	0.29721	N	0.838639	P	0.49559	0.925	B	0.29353	0.101	T	0.09796	-1.0658	10	0.33141	T	0.24	-6.402	13.8057	0.63230	0.0695:0.0:0.9305:0.0	.	896	Q96AE7	TTC17_HUMAN	H	896	ENSP00000039989:R896H	ENSP00000039989:R896H	R	+	2	0	TTC17	43426149	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.092000	0.76930	2.885000	0.99019	0.655000	0.94253	CGT		0.498	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		A	43469573	G	A	43469573	3	1	27	1	0	0	0	0	1	0	0	0	16689	1145	40	1	2761	1	TTC17	11	43469573	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	38146500	43469573	91536943	44	1927											
CDC42BPG	55561	hgsc.bcm.edu	37	11	64601408	64601408	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr11:64601408G>A	ENST00000342711.5	-	21	2454	c.2455C>T	c.(2455-2457)Cgg>Tgg	p.R819W	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						TCTGAGCTCCGGAAGGACAGG	0.597																																																0													192	203	199					11																	64601408		2201	4297	6498	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2455C>T	chr11.hg19:g.64601408G>A	ENSP00000345133:p.Arg819Trp			Missense_Mutation	SNP	ENST00000342711.5	hg19	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620693	0.28889	.	.	ENSG00000171219	ENST00000342711	T	0.68331	-0.32	5.08	-1.14	0.09741	.	1.156120	0.06554	N	0.745533	T	0.44540	0.1298	N	0.08118	0	0.23773	N	0.996881	B	0.06786	0.001	B	0.04013	0.001	T	0.25745	-1.0123	10	0.37606	T	0.19	.	8.5718	0.33574	0.5624:0.0:0.4376:0.0	.	819	Q6DT37	MRCKG_HUMAN	W	819	ENSP00000345133:R819W	ENSP00000345133:R819W	R	-	1	2	CDC42BPG	64357984	0.933000	0.31639	0.989000	0.46669	0.825000	0.46686	-0.228000	0.09114	-0.385000	0.07833	-0.258000	0.10820	CGG		0.597	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		A	64601408	G	A	64601408	3	1	27	1	0	0	0	0	1	0	0	0	3076	1115	39	1	2268	1	CDC42BPG	11	64601408	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	21131835	64601408	70405108	45	1928											
TIMM8B	26521	hgsc.bcm.edu	37	11	111956122	111956122	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr11:111956122G>A	ENST00000504148.2	-	2	220	c.149C>T	c.(148-150)tCt>tTt	p.S50F	SDHD_ENST00000532699.1_5'Flank|SDHD_ENST00000528182.1_5'Flank|SDHD_ENST00000525291.1_5'Flank|TIMM8B_ENST00000507614.1_5'UTR|SDHD_ENST00000528021.1_5'Flank|TIMM8B_ENST00000541231.1_Missense_Mutation_p.S65F|SDHD_ENST00000526592.1_5'Flank|SDHD_ENST00000528048.1_5'Flank|SDHD_ENST00000375549.3_5'Flank	NM_012459.2	NP_036591.2	Q9Y5J9	TIM8B_HUMAN	translocase of inner mitochondrial membrane 8 homolog B (yeast)	50					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	zinc ion binding (GO:0008270)			large_intestine(1)	1		all_cancers(61;1.84e-10)|all_epithelial(67;9.33e-06)|Melanoma(852;4.01e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;6.01e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.03e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TTCAGTGCGAGAGTCTAGGCG	0.473																																																0													136	109	118					11																	111956122		2201	4297	6498	SO:0001583	missense	26521			AF150087	CCDS8357.1, CCDS8357.2	11q23.1-q23.2	2010-11-23	2001-11-28		ENSG00000150779	ENSG00000150779			11818	protein-coding gene	gene with protein product	"mitochondrial import inner membrane translocase subunit Tim8 B"	606659	"translocase of inner mitochondrial membrane 8 (yeast) homolog B"			10552927	Standard	NM_012459		Approved	TIM8B, DDP2, FLJ21744, MGC102866, MGC117373	uc001pmx.3	Q9Y5J9	OTTHUMG00000162261	ENST00000504148.2:c.149C>T	chr11.hg19:g.111956122G>A	ENSP00000422122:p.Ser50Phe		B0YJA5|Q3KQS9|Q9UN04	Missense_Mutation	SNP	ENST00000504148.2	hg19		.	.	.	.	.	.	.	.	.	.	G	21.2	4.110278	0.77210	.	.	ENSG00000150779	ENST00000504148;ENST00000541231	T;T	0.66460	-0.21;-0.21	5.56	5.56	0.83823	.	0.293556	0.38663	N	0.001618	T	0.75443	0.3850	.	.	.	0.45239	D	0.998241	D	0.53745	0.962	P	0.51615	0.675	T	0.78489	-0.2184	9	0.87932	D	0	-15.0727	18.3499	0.90335	0.0:0.0:1.0:0.0	.	50	Q9Y5J9	TIM8B_HUMAN	F	50;65	ENSP00000422122:S50F;ENSP00000438455:S65F	ENSP00000422122:S50F	S	-	2	0	TIMM8B	111461332	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.523000	0.53488	2.645000	0.89757	0.549000	0.68633	TCT		0.473	TIMM8B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000368270.2	NM_012459		A	111956122	G	A	111956122	3	1	27	1	0	0	0	0	1	0	0	0	15920	942	33	2	106	2	TIMM8B	11	111956122	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	47354714	111956122	23050394	46	1929											
WNK1	65125	hgsc.bcm.edu	37	12	1005251	1005251	+	Silent	SNP	A	A	G			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr12:1005251A>G	ENST00000315939.6	+	24	6241	c.5598A>G	c.(5596-5598)gcA>gcG	p.A1866A	WNK1_ENST00000530271.2_Silent_p.A2364A|WNK1_ENST00000535572.1_Silent_p.A1618A|WNK1_ENST00000537687.1_Silent_p.A2126A|WNK1_ENST00000340908.4_Silent_p.A1459A	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1866					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTGTTGCAGCAGACGGTGCCC	0.358																																					Colon(19;451 567 6672 12618 28860)											0													73	75	75					12																	1005251		2203	4300	6503	SO:0001819	synonymous_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5598A>G	chr12.hg19:g.1005251A>G			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	hg19	CCDS8506.1																																																																																				0.358	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		G	1005251	A	G	1005251	2	3	27	1	0	0	0	0	0	0	0	1	17382	175	7	3		3	WNK1	12	1005251	Silent	SNP	A	TCGA-5P-A9JU-01A-11D-A42J-10		1005251	132846644	47	1930											
SCNN1A	6337	hgsc.bcm.edu	37	12	6472823	6472823	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr12:6472823G>A	ENST00000228916.2	-	3	568	c.470C>T	c.(469-471)aCg>aTg	p.T157M	SCNN1A_ENST00000358945.3_Missense_Mutation_p.T157M|SCNN1A_ENST00000540037.1_De_novo_Start_OutOfFrame|SCNN1A_ENST00000396966.2_Missense_Mutation_p.T157M|SCNN1A_ENST00000360168.3_Missense_Mutation_p.T216M|SCNN1A_ENST00000543768.1_Missense_Mutation_p.T180M|SCNN1A_ENST00000538979.1_Intron	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	157					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GTCAAAGAGCGTCTGCTCTGT	0.647																																																0													34	38	37					12																	6472823		2203	4300	6503	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.470C>T	chr12.hg19:g.6472823G>A	ENSP00000228916:p.Thr157Met		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	hg19	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009860	0.75046	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000003	T	0.75064	0.3799	M	0.82517	2.595	0.47819	D	0.999528	D;D;D	0.63880	0.993;0.993;0.976	P;P;B	0.52109	0.69;0.56;0.301	T	0.80188	-0.1486	10	0.87932	D	0	-10.8711	16.8039	0.85621	0.0:0.0:1.0:0.0	.	180;157;216	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	M	216;157;157;157;180	ENSP00000353292:T216M;ENSP00000351825:T157M;ENSP00000228916:T157M;ENSP00000380166:T157M;ENSP00000438739:T180M	ENSP00000228916:T157M	T	-	2	0	SCNN1A	6343084	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	4.654000	0.61469	2.535000	0.85469	0.561000	0.74099	ACG		0.647	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			A	6472823	G	A	6472823	3	1	27	1	0	0	0	0	1	0	0	0	13933	1145	40	1	1583	1	SCNN1A	12	6472823	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	5467572	6472823	127379072	48	1931											
ITGA5	3678	hgsc.bcm.edu	37	12	54792434	54792434	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr12:54792434G>C	ENST00000293379.4	-	28	3151	c.2890C>G	c.(2890-2892)Ctg>Gtg	p.L964V	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	964					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GGCATCTTCAGGGCTTTGTAC	0.572																																																0													105	91	95					12																	54792434		2203	4300	6503	SO:0001583	missense	3678				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2890C>G	chr12.hg19:g.54792434G>C	ENSP00000293379:p.Leu964Val		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	hg19	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552305	0.45487	.	.	ENSG00000161638	ENST00000293379	T	0.21932	1.98	5.36	1.45	0.22620	.	0.287995	0.31897	N	0.006894	T	0.10809	0.0264	L	0.34521	1.04	0.22601	N	0.998941	P	0.44986	0.847	B	0.35278	0.199	T	0.22312	-1.0220	10	0.31617	T	0.26	.	5.3109	0.15829	0.2368:0.0:0.6205:0.1427	.	964	P08648	ITA5_HUMAN	V	964	ENSP00000293379:L964V	ENSP00000293379:L964V	L	-	1	2	ITGA5	53078701	0.361000	0.24972	0.984000	0.44739	0.992000	0.81027	1.036000	0.30228	0.069000	0.16605	0.655000	0.94253	CTG		0.572	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			C	54792434	G	C	54792434	3	2	27	1	0	0	0	0	1	0	0	0	7881	991	35	4	271	4	ITGA5	12	54792434	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	48319611	54792434	79059461	49	1932											
UBE3B	89910	hgsc.bcm.edu	37	12	109961880	109961880	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr12:109961880delC	ENST00000342494.3	+	22	3057	c.2462delC	c.(2461-2463)tctfs	p.S821fs	UBE3B_ENST00000434735.2_Frame_Shift_Del_p.S821fs	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	821	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GAACTGCCTTCTCTGGACTCC	0.527																																																0													129	109	116					12																	109961880		2203	4300	6503	SO:0001589	frameshift_variant	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2462delC	chr12.hg19:g.109961880delC	ENSP00000340596:p.Ser821fs		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Frame_Shift_Del	DEL	ENST00000342494.3	hg19	CCDS9129.1																																																																																				0.527	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		-	109961880	C	-	109961880	7	5	27	1	0	1	0	1	0	0	0	0	16885	913	32	0	2540	0	UBE3B	12	109961880	Frame_Shift_Del	DEL	C	TCGA-5P-A9JU-01A-11D-A42J-10	55169446	109961880	23890015	50	1933											
ATP7B	540	hgsc.bcm.edu	37	13	52516678	52516679	+	Frame_Shift_Ins	INS	-	-	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr13:52516678_52516679insT	ENST00000242839.4	-	15	3411_3412	c.3255_3256insA	c.(3253-3258)acagagfs	p.E1086fs	ATP7B_ENST00000344297.5_Frame_Shift_Ins_p.E879fs|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.E1021fs|ATP7B_ENST00000400370.3_Frame_Shift_Ins_p.E656fs|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.E297fs|ATP7B_ENST00000448424.2_Frame_Shift_Ins_p.E1008fs|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.E975fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1086					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCCAAGGTCTCTGTTCCAAGTT	0.579									Wilson disease																																							0																																										SO:0001589	frameshift_variant	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3256dupA	chr13.hg19:g.52516679_52516679dupT	ENSP00000242839:p.Glu1086fs		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Frame_Shift_Ins	INS	ENST00000242839.4	hg19	CCDS41892.1																																																																																				0.579	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		T	52516679	-	T	52516678	7	5	27	1	0	1	1	0	0	0	0	0	1191	922	32	0	1169	0	ATP7B	13	52516678	Frame_Shift_Ins	INS	-	TCGA-5P-A9JU-01A-11D-A42J-10		52516678	62653200	51	1934											
EFS	10278	hgsc.bcm.edu	37	14	23828684	23828684	+	Missense_Mutation	SNP	G	G	A	rs147068550		TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr14:23828684G>A	ENST00000216733.3	-	4	1610	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	EFS_ENST00000429593.2_Missense_Mutation_p.R166W|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Missense_Mutation_p.R242W	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	335	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCAGAGGCCGGTCCTGGATG	0.721																																																0								G	TRP/ARG,TRP/ARG	0,3888		0,0,1944	22	24	23		1003,724	1.2	1	14	dbSNP_134	23	2,7684		0,2,3841	no	missense,missense	EFS	NM_005864.2,NM_032459.1	101,101	0,2,5785	AA,AG,GG		0.026,0.0,0.0173	probably-damaging,probably-damaging	335/562,242/469	23828684	2,11572	1944	3843	5787	SO:0001583	missense	10278			AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1003C>T	chr14.hg19:g.23828684G>A	ENSP00000216733:p.Arg335Trp		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	hg19	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629049	0.67015	0.0	2.6E-4	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.69926	-0.44;0.28;0.39	5.43	1.23	0.21249	.	0.510812	0.18859	N	0.129190	T	0.71945	0.3400	L	0.34521	1.04	0.41759	D	0.989702	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.942;0.976	T	0.71820	-0.4477	10	0.72032	D	0.01	-19.2141	14.0841	0.64944	0.0:0.0:0.4685:0.5314	.	166;242;335	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	W	335;242;166	ENSP00000216733:R335W;ENSP00000340607:R242W;ENSP00000416684:R166W	ENSP00000216733:R335W	R	-	1	2	EFS	22898524	0.979000	0.34478	0.998000	0.56505	0.996000	0.88848	0.152000	0.16302	-0.050000	0.13356	0.655000	0.94253	CGG		0.721	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			A	23828684	G	A	23828684	3	1	27	1	0	0	0	0	1	0	0	0	4961	1115	39	1	694	1	EFS	14	23828684	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10		23828684	83520856	52	1935											
RIPK3	11035	hgsc.bcm.edu	37	14	24807103	24807103	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr14:24807103G>T	ENST00000216274.5	-	6	1026	c.808C>A	c.(808-810)Ccc>Acc	p.P270T	RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'Flank|ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000310677.4_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CTGTCCTTGGGCTCACTGCTC	0.572																																					Pancreas(58;918 1191 4668 13304 15331)											0													63	65	64					14																	24807103		2203	4300	6503	SO:0001583	missense	11035			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.808C>A	chr14.hg19:g.24807103G>T	ENSP00000216274:p.Pro270Thr		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	hg19	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.797112	0.50208	.	.	ENSG00000129465	ENST00000216274	T	0.70986	-0.53	4.46	2.59	0.31030	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.278577	0.26268	N	0.025359	D	0.83760	0.5324	M	0.90252	3.1	0.09310	N	0.999996	D	0.71674	0.998	D	0.68353	0.957	T	0.74494	-0.3647	10	0.72032	D	0.01	-9.3819	9.2661	0.37641	0.1827:0.0:0.8173:0.0	.	270	Q9Y572	RIPK3_HUMAN	T	270	ENSP00000216274:P270T	ENSP00000216274:P270T	P	-	1	0	RIPK3	23876943	0.994000	0.37717	0.031000	0.17742	0.005000	0.04900	2.658000	0.46733	0.789000	0.33779	0.655000	0.94253	CCC		0.572	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		T	24807103	G	T	24807103	3	4	27	1	0	0	0	0	1	0	0	0	13388	1203	42	4	768	4	RIPK3	14	24807103	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	978419	24807103	82542437	53	1936											
SYT16	83851	hgsc.bcm.edu	37	14	62462841	62462842	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr14:62462841_62462842TA>AT	ENST00000430451.2	+	1	301_302	c.104_105TA>AT	c.(103-105)tTA>tAT	p.L35Y	SYT16_ENST00000446982.2_Missense_Mutation_p.L35Y	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	35					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGAGATATGTTATCTGCTTCGC	0.421																																																0																																										SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	Exception_encountered	chr14.hg19:g.62462841_62462842delinsAT	ENSP00000394700:p.Leu35Tyr		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000430451.2	hg19	CCDS45121.1																																																																																				0.421	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		AT	62462842	TA	AT	62462841	3	1	27	1	0	0	0	0	1	0	0	0	15477	1764	61	5	106	5	SYT16	14	62462841	Missense_Mutation	DNP	TA	TCGA-5P-A9JU-01A-11D-A42J-10	37655738	62462841	44886699	54	1937											
AHNAK2	113146	hgsc.bcm.edu	37	14	105408237	105408237	+	Silent	SNP	G	G	A	rs574414313		TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr14:105408237G>A	ENST00000333244.5	-	7	13670	c.13551C>T	c.(13549-13551)tcC>tcT	p.S4517S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4517						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGGTCGGCGGAAGGGGCCT	0.622													-|||	1	0.000199681	0.0	0.0	5008	,	,		19322	0.0		0.001	False		,,,				2504	0.0															0													107	116	113					14																	105408237		1972	4154	6126	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13551C>T	chr14.hg19:g.105408237G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	hg19	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105408237	G	A	105408237	2	1	27	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105408237	Silent	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	42945396	105408237	1941303	55	1938											
TRPM1	4308	hgsc.bcm.edu	37	15	31330016	31330017	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr15:31330016_31330017delCT	ENST00000256552.6	-	20	2615_2616	c.2468_2469delAG	c.(2467-2469)aagfs	p.K823fs	TRPM1_ENST00000397795.2_Frame_Shift_Del_p.K801fs|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Frame_Shift_Del_p.K840fs|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCTCATCCCCCTTTCTTGAGCC	0.48																																																0																																										SO:0001589	frameshift_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2468_2469delAG	chr15.hg19:g.31330016_31330017delCT	ENSP00000256552:p.Lys823fs			Frame_Shift_Del	DEL	ENST00000256552.6	hg19	CCDS58346.1																																																																																				0.48	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		-	31330017	CT	-	31330016	7	5	27	1	0	1	0	1	0	0	0	0	16590	680	24	0	2444	0	TRPM1	15	31330016	Frame_Shift_Del	DEL	CT	TCGA-5P-A9JU-01A-11D-A42J-10		31330016	71201376	56	1939											
VPS39	23339	hgsc.bcm.edu	37	15	42456665	42456665	+	Silent	SNP	A	A	G			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr15:42456665A>G	ENST00000348544.4	-	20	1949	c.1950T>C	c.(1948-1950)gcT>gcC	p.A650A	VPS39_ENST00000318006.5_Silent_p.A639A			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	650					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CTTCCTCTCCAGCTGGGACTG	0.493																																																0													61	61	61					15																	42456665		2203	4299	6502	SO:0001819	synonymous_variant	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1950T>C	chr15.hg19:g.42456665A>G			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	hg19	CCDS10083.1																																																																																				0.493	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		G	42456665	A	G	42456665	2	3	27	1	0	0	0	0	0	0	0	1	17214	175	7	3		3	VPS39	15	42456665	Silent	SNP	A	TCGA-5P-A9JU-01A-11D-A42J-10	11126649	42456665	60074727	57	1940											
DUOXA1	90527	hgsc.bcm.edu	37	15	45411430	45411430	+	Silent	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr15:45411430G>A	ENST00000560572.1	-	6	911	c.906C>T	c.(904-906)ctC>ctT	p.L302L	DUOXA1_ENST00000430224.2_Silent_p.L257L|DUOXA1_ENST00000267803.4_Silent_p.L302L|DUOXA1_ENST00000558422.1_Silent_p.L257L|DUOXA1_ENST00000559014.1_Silent_p.L302L|DUOXA1_ENST00000558996.1_Silent_p.L257L	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	302					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GGGGGCTCAGGAGTCCACCTT	0.597																																																0													76	74	75					15																	45411430		2198	4298	6496	SO:0001819	synonymous_variant	90527			BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.906C>T	chr15.hg19:g.45411430G>A			Q8N6K9|Q96MI4	Silent	SNP	ENST00000560572.1	hg19																																																																																					0.597	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		A	45411430	G	A	45411430	2	1	27	1	0	0	0	0	0	0	0	1	4804	1161	41	2		2	DUOXA1	15	45411430	Silent	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	2954765	45411430	57119962	58	1941											
PLEKHO2	80301	hgsc.bcm.edu	37	15	65157740	65157740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr15:65157740delC	ENST00000323544.4	+	6	1254	c.1126delC	c.(1126-1128)cccfs	p.P377fs	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	377	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGCACTGCCCCCCTGGGA	0.632																																																0													81	80	80					15																	65157740		2202	4299	6501	SO:0001589	frameshift_variant	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1126delC	chr15.hg19:g.65157740delC	ENSP00000326706:p.Pro377fs		Q7L4H4|Q8WYS8	Frame_Shift_Del	DEL	ENST00000323544.4	hg19	CCDS10196.1																																																																																				0.632	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		-	65157740	C	-	65157740	7	5	27	1	0	1	0	1	0	0	0	0	12087	739	26	0	1148	0	PLEKHO2	15	65157740	Frame_Shift_Del	DEL	C	TCGA-5P-A9JU-01A-11D-A42J-10	19746310	65157740	37373652	59	1942											
MYO9A	4649	hgsc.bcm.edu	37	15	72192260	72192260	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr15:72192260G>C	ENST00000356056.5	-	24	3710	c.3238C>G	c.(3238-3240)Ctt>Gtt	p.L1080V	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.L1080V|MYO9A_ENST00000566885.1_Missense_Mutation_p.L700V|MYO9A_ENST00000444904.1_Missense_Mutation_p.L1061V|MYO9A_ENST00000424560.1_Missense_Mutation_p.L1080V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1080	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTTGGAGAAGAGCAGCTGCA	0.488																																																0													63	63	63					15																	72192260		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3238C>G	chr15.hg19:g.72192260G>C	ENSP00000348349:p.Leu1080Val		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	4.193	0.034411	0.08101	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71817	-0.58;-0.59;-0.6	5.66	-1.37	0.09056	.	.	.	.	.	T	0.44435	0.1293	N	0.11927	0.2	0.09310	N	1	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.10450	0.003;0.002;0.005	T	0.23797	-1.0178	9	0.17832	T	0.49	.	4.621	0.12449	0.0687:0.2989:0.1867:0.4456	.	1061;1061;1080	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	V	1080;1080;1061;1061	ENSP00000348349:L1080V;ENSP00000399162:L1080V;ENSP00000398250:L1061V	ENSP00000261864:L1061V	L	-	1	0	MYO9A	69979314	0.000000	0.05858	0.020000	0.16555	0.931000	0.56810	-0.735000	0.04888	0.087000	0.17167	0.655000	0.94253	CTT		0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		C	72192260	G	C	72192260	3	2	27	1	0	0	0	0	1	0	0	0	10086	942	33	4	4484	4	MYO9A	15	72192260	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	7034520	72192260	30339132	60	1943											
SLC28A1	9154	hgsc.bcm.edu	37	15	85452001	85452001	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr15:85452001T>C	ENST00000286749.3	+	8	860	c.770T>C	c.(769-771)cTg>cCg	p.L257P	SLC28A1_ENST00000537624.1_Missense_Mutation_p.L257P|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L257P|SLC28A1_ENST00000394573.1_Missense_Mutation_p.L257P|SLC28A1_ENST00000537703.1_Missense_Mutation_p.L179P|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L257P			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	257					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GGGGAGGCGCTGGTCAAGGAT	0.547																																																0													81	79	80					15																	85452001		2203	4299	6502	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.770T>C	chr15.hg19:g.85452001T>C	ENSP00000286749:p.Leu257Pro		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	hg19	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582919	0.28268	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.04603	4.33;4.06;4.52;4.5;4.5;3.59	4.59	4.59	0.56863	.	0.071749	0.56097	D	0.000021	T	0.23727	0.0574	M	0.88310	2.945	0.80722	D	1	D;B;D;B;D	0.89917	1.0;0.149;1.0;0.106;1.0	D;B;D;B;D	0.87578	0.992;0.115;0.998;0.183;0.991	T	0.01360	-1.1375	10	0.72032	D	0.01	-2.9199	10.289	0.43584	0.0:0.0:0.0:1.0	.	257;257;257;179;257	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	P	257;257;257;257;257;179	ENSP00000440546:L257P;ENSP00000443752:L257P;ENSP00000444700:L257P;ENSP00000286749:L257P;ENSP00000378074:L257P;ENSP00000443764:L179P	ENSP00000286749:L257P	L	+	2	0	SLC28A1	83253005	1.000000	0.71417	0.955000	0.39395	0.184000	0.23303	5.694000	0.68272	1.930000	0.55929	0.459000	0.35465	CTG		0.547	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			C	85452001	T	C	85452001	3	2	27	1	0	0	0	0	1	0	0	0	14537	1580	55	3	867	3	SLC28A1	15	85452001	Missense_Mutation	SNP	T	TCGA-5P-A9JU-01A-11D-A42J-10	13259741	85452001	17079391	61	1944											
AKAP13	11214	hgsc.bcm.edu	37	15	86122639	86122639	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr15:86122639A>C	ENST00000394518.2	+	7	1435	c.1340A>C	c.(1339-1341)cAg>cCg	p.Q447P	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q447P|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	447					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCTGTGCTTCAGAGAGACTTG	0.517																																					Melanoma(94;603 1453 3280 32295 32951)											0													63	67	65					15																	86122639		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1340A>C	chr15.hg19:g.86122639A>C	ENSP00000378026:p.Gln447Pro		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	hg19	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.467257	0.26335	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.12361	2.71;2.69	5.3	-3.83	0.04269	.	.	.	.	.	T	0.08403	0.0209	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.33650	-0.9860	9	0.51188	T	0.08	.	5.4318	0.16458	0.2672:0.5391:0.0749:0.1188	.	447;447	Q12802;Q12802-2	AKP13_HUMAN;.	P	447;447;446;446	ENSP00000354718:Q447P;ENSP00000378026:Q447P	ENSP00000354718:Q447P	Q	+	2	0	AKAP13	83923643	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.075000	0.11431	-0.915000	0.03823	-0.374000	0.07098	CAG		0.517	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		C	86122639	A	C	86122639	3	2	27	1	0	0	0	0	1	0	0	0	449	188	7	5	1362	5	AKAP13	15	86122639	Missense_Mutation	SNP	A	TCGA-5P-A9JU-01A-11D-A42J-10	670638	86122639	16408753	62	1945											
TMC5	79838	hgsc.bcm.edu	37	16	19474683	19474683	+	Silent	SNP	T	T	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr16:19474683T>A	ENST00000396229.2	+	7	1979	c.1230T>A	c.(1228-1230)atT>atA	p.I410I	TMC5_ENST00000219821.5_Silent_p.I164I|TMC5_ENST00000381414.4_Silent_p.I410I|TMC5_ENST00000561503.1_Silent_p.I51I|TMC5_ENST00000541464.1_Silent_p.I410I|TMC5_ENST00000564959.1_Silent_p.I93I|TMC5_ENST00000542583.2_Silent_p.I410I	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	410					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAACTCCATTTCCCGGGTAA	0.458																																																0													118	108	111					16																	19474683		2197	4300	6497	SO:0001819	synonymous_variant	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1230T>A	chr16.hg19:g.19474683T>A			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	ENST00000396229.2	hg19	CCDS45431.1																																																																																				0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		A	19474683	T	A	19474683	2	1	27	1	0	0	0	0	0	0	0	1	15993	1829	64	5		5	TMC5	16	19474683	Silent	SNP	T	TCGA-5P-A9JU-01A-11D-A42J-10		19474683	70880070	63	1946											
RBBP6	5930	hgsc.bcm.edu	37	16	24578519	24578519	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr16:24578519T>C	ENST00000319715.4	+	15	2077	c.1645T>C	c.(1645-1647)Tca>Cca	p.S549P	RBBP6_ENST00000348022.2_Missense_Mutation_p.S549P|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	549					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCAAGGCCCGTCACTACCAGC	0.488																																																0													169	155	160					16																	24578519		2197	4300	6497	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1645T>C	chr16.hg19:g.24578519T>C	ENSP00000317872:p.Ser549Pro		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	hg19	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.949100	0.34377	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.14893	2.47;2.47	5.8	5.8	0.92144	.	0.000000	0.41396	D	0.000886	T	0.11836	0.0288	N	0.19112	0.55	0.33759	D	0.621639	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.003	T	0.13710	-1.0499	10	0.32370	T	0.25	-13.6566	11.5317	0.50614	0.1922:0.0:0.0:0.8078	.	549;549	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	P	549	ENSP00000317872:S549P;ENSP00000316291:S549P	ENSP00000317872:S549P	S	+	1	0	RBBP6	24486020	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	1.675000	0.37555	2.209000	0.71365	0.460000	0.39030	TCA		0.488	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		C	24578519	T	C	24578519	3	2	27	1	0	0	0	0	1	0	0	0	13109	1667	58	3	1757	3	RBBP6	16	24578519	Missense_Mutation	SNP	T	TCGA-5P-A9JU-01A-11D-A42J-10	5103836	24578519	65776234	64	1947											
BCKDK	10295	hgsc.bcm.edu	37	16	31121525	31121525	+	Splice_Site	SNP	G	G	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr16:31121525G>T	ENST00000394951.1	+	7	1046		c.e7-1		AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Splice_Site|BCKDK_ENST00000394950.3_Splice_Site|BCKDK_ENST00000287507.3_Splice_Site			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase						branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GTGACCTGCAGATCAAGGACC	0.617																																																0													93	91	92					16																	31121525		2197	4300	6497	SO:0001630	splice_region_variant	10295			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.424-1G>T	chr16.hg19:g.31121525G>T			A8MY43|Q6FGL4|Q96G95|Q96IN5	Splice_Site	SNP	ENST00000394951.1	hg19	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947194	0.73672	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4154	0.90568	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCKDK	31029026	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.797000	0.91882	2.720000	0.93068	0.655000	0.94253	.		0.617	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881	Intron	T	31121525	G	T	31121525	5	4	27	1	0	0	0	0	0	0	1	0	1361	956	33	4	441	4	BCKDK	16	31121525	Splice_Site	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	6543006	31121525	59233228	65	1948											
SRR	63826	hgsc.bcm.edu	37	17	2226627	2226627	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr17:2226627G>T	ENST00000344595.5	+	7	1110	c.792G>T	c.(790-792)gaG>gaT	p.E264D	SRR_ENST00000576848.1_Missense_Mutation_p.E38D|TSR1_ENST00000301364.5_3'UTR	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	264					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	CTGTCACAGAGGATGAAATTA	0.448																																																0													103	97	99					17																	2226627		2203	4300	6503	SO:0001583	missense	63826			AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.792G>T	chr17.hg19:g.2226627G>T	ENSP00000339435:p.Glu264Asp		D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	hg19	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517749	0.27123	.	.	ENSG00000167720	ENST00000344595	D	0.96365	-3.99	5.88	2.55	0.30701	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	L	0.35487	1.065	0.80722	D	1	B	0.28713	0.22	B	0.37422	0.249	D	0.83449	0.0047	10	0.06365	T	0.9	-30.1951	9.8933	0.41302	0.2377:0.0:0.7623:0.0	.	264	Q9GZT4	SRR_HUMAN	D	264	ENSP00000339435:E264D	ENSP00000339435:E264D	E	+	3	2	SRR	2173377	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.152000	0.42272	0.297000	0.22615	0.555000	0.69702	GAG		0.448	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		T	2226627	G	T	2226627	3	4	27	1	0	0	0	0	1	0	0	0	15171	991	35	4	814	4	SRR	17	2226627	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10		2226627	78968583	66	1949											
ZNF594	84622	hgsc.bcm.edu	37	17	5085263	5085263	+	Nonsense_Mutation	SNP	A	A	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr17:5085263A>T	ENST00000399604.4	-	1	2429	c.2289T>A	c.(2287-2289)tgT>tgA	p.C763*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.C763*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	763					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TACACTGATTACACCAATAAA	0.408																																																0													208	210	209					17																	5085263		1983	4172	6155	SO:0001587	stop_gained	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2289T>A	chr17.hg19:g.5085263A>T	ENSP00000382513:p.Cys763*		Q6RFS0	Nonsense_Mutation	SNP	ENST00000399604.4	hg19	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.023323	0.93462	.	.	ENSG00000180626	ENST00000399604	.	.	.	1.04	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9142	0.19045	1.0:0.0:0.0:0.0	.	.	.	.	X	763	.	ENSP00000382513:C763X	C	-	3	2	ZNF594	5025987	0.055000	0.20627	0.019000	0.16419	0.154000	0.21943	0.151000	0.16283	0.418000	0.25898	0.248000	0.18094	TGT		0.408	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		T	5085263	A	T	5085263	4	4	27	1	0	0	0	0	0	1	0	0	18029	389	14	5	138	5	ZNF594	17	5085263	Nonsense_Mutation	SNP	A	TCGA-5P-A9JU-01A-11D-A42J-10	2858636	5085263	76109947	67	1950											
CASC3	22794	hgsc.bcm.edu	37	17	38297029	38297030	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr17:38297029_38297030delGT	ENST00000264645.7	+	1	454_455	c.228_229delGT	c.(226-231)gagtgtfs	p.C77fs		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	77					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGGAGTCGGAGTGTGTGAGTGC	0.703																																																0																																										SO:0001589	frameshift_variant	22794			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.228_229delGT	chr17.hg19:g.38297033_38297034delGT	ENSP00000264645:p.Cys77fs		A8K8R0	Frame_Shift_Del	DEL	ENST00000264645.7	hg19	CCDS11362.1																																																																																				0.703	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		-	38297030	GT	-	38297029	7	5	27	1	0	1	0	1	0	0	0	0	2663	1020	36	0	230	0	CASC3	17	38297029	Frame_Shift_Del	DEL	GT	TCGA-5P-A9JU-01A-11D-A42J-10	33211766	38297029	42898181	68	1951											
GRN	2896	hgsc.bcm.edu	37	17	42427873	42427873	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr17:42427873A>C	ENST00000053867.3	+	6	588	c.526A>C	c.(526-528)Acc>Ccc	p.T176P	GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	176					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTGGTTCACACCCGCTGCAT	0.617											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													116	111	112					17																	42427873		2203	4300	6503	SO:0001583	missense	2896			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.526A>C	chr17.hg19:g.42427873A>C	ENSP00000053867:p.Thr176Pro	908	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	hg19	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	A	8.948	0.967566	0.18659	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.72615	-0.67	4.43	-0.595	0.11660	Granulin (2);	1.360170	0.04868	N	0.445459	T	0.60932	0.2307	L	0.34521	1.04	0.09310	N	1	B	0.33238	0.403	B	0.41691	0.364	T	0.48906	-0.8993	10	0.24483	T	0.36	-3.2852	2.7752	0.05345	0.2261:0.0:0.3737:0.4002	.	176	P28799	GRN_HUMAN	P	176	ENSP00000053867:T176P	ENSP00000053867:T176P	T	+	1	0	GRN	39783399	0.004000	0.15560	0.004000	0.12327	0.017000	0.09413	1.212000	0.32394	0.021000	0.15133	-0.464000	0.05259	ACC		0.617	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		C	42427873	A	C	42427873	3	2	27	1	0	0	0	0	1	0	0	0	6806	159	6	5	544	5	GRN	17	42427873	Missense_Mutation	SNP	A	TCGA-5P-A9JU-01A-11D-A42J-10	4130844	42427873	38767337	69	1952											
ESCO1	114799	hgsc.bcm.edu	37	18	19154134	19154134	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr18:19154134G>A	ENST00000269214.5	-	4	1608	c.671C>T	c.(670-672)tCt>tTt	p.S224F		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	224					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ACACTTTTCAGATCCTTGCGT	0.408																																																0													167	163	164					18																	19154134		2203	4300	6503	SO:0001583	missense	114799			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.671C>T	chr18.hg19:g.19154134G>A	ENSP00000269214:p.Ser224Phe		B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	hg19	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443142	0.25987	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.63255	-0.03;1.49	4.98	3.2	0.36748	.	0.917970	0.09279	N	0.824061	T	0.57946	0.2088	M	0.62723	1.935	0.24024	N	0.996137	P	0.48162	0.906	B	0.41723	0.365	T	0.52193	-0.8608	10	0.87932	D	0	-10.7597	5.6599	0.17662	0.1623:0.0:0.6812:0.1565	.	224	Q5FWF5	ESCO1_HUMAN	F	224	ENSP00000269214:S224F;ENSP00000372763:S224F	ENSP00000269214:S224F	S	-	2	0	ESCO1	17408132	0.149000	0.22717	0.976000	0.42696	0.380000	0.30137	1.587000	0.36622	0.710000	0.31997	-0.140000	0.14226	TCT		0.408	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		A	19154134	G	A	19154134	3	1	27	1	0	0	0	0	1	0	0	0	5250	942	33	2	1887	2	ESCO1	18	19154134	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10		19154134	58923114	70	1953											
MEX3C	51320	hgsc.bcm.edu	37	18	48703464	48703464	+	5'UTR	SNP	C	C	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr18:48703464C>T	ENST00000591040.1	-	0	525							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		AAGCTTACATCGGTACCATTG	0.443																																																0													103	97	99					18																	48703464		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51320			BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	28040	protein-coding gene	gene with protein product		611005	"ring finger and KH domain containing 2", "mex-3 homolog C (C. elegans)"	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-274G>A	chr18.hg19:g.48703464C>T			A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000591040.1	hg19		.	.	.	.	.	.	.	.	.	.	C	26.5	4.744251	0.89663	.	.	ENSG00000176624	ENST00000406189	T	0.51574	0.7	5.97	5.97	0.96955	.	0.044645	0.85682	D	0.000000	T	0.67496	0.2899	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.64506	0.926	T	0.67189	-0.5733	10	0.62326	D	0.03	-15.0661	19.2102	0.93751	0.0:1.0:0.0:0.0	.	413	Q5U5Q3	MEX3C_HUMAN	N	413	ENSP00000385610:D413N	ENSP00000385610:D413N	D	-	1	0	MEX3C	46957462	1.000000	0.71417	0.631000	0.29282	0.995000	0.86356	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	GAT		0.443	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		T	48703464	C	T	48703464	1	4	27	0	1	0	0	0	0	0	0	0	9513	884	31	1		1	MEX3C	18	48703464	5'UTR	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	29549330	48703464	29373784	71	1954											
ZNF77	58492	hgsc.bcm.edu	37	19	2936619	2936620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr19:2936619_2936620insA	ENST00000314531.4	-	3	305_306	c.213_214insT	c.(211-216)attgtafs	p.V72fs	ZNF77_ENST00000588050.1_5'Flank	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAACTTTACAATCTCTTCAT	0.391																																																0																																										SO:0001589	frameshift_variant	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.214dupT	chr19.hg19:g.2936621_2936621dupA	ENSP00000319053:p.Val72fs		Q86XJ3|Q9NPP0	Frame_Shift_Ins	INS	ENST00000314531.4	hg19	CCDS12099.1																																																																																				0.391	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		A	2936620	-	A	2936619	7	5	27	1	0	1	1	0	0	0	0	0	18147	478	17	0	1431	0	ZNF77	19	2936619	Frame_Shift_Ins	INS	-	TCGA-5P-A9JU-01A-11D-A42J-10		2936619	56192364	72	1955											
NFIC	4782	hgsc.bcm.edu	37	19	3381992	3381992	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr19:3381992G>A	ENST00000443272.2	+	2	364	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	NFIC_ENST00000341919.3_Missense_Mutation_p.V105M|NFIC_ENST00000586919.1_Missense_Mutation_p.V96M|NFIC_ENST00000589123.1_Missense_Mutation_p.V96M|NFIC_ENST00000346156.5_Missense_Mutation_p.V96M|NFIC_ENST00000395111.3_Missense_Mutation_p.V96M|NFIC_ENST00000590282.1_Missense_Mutation_p.V105M	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	105					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GCCGGGCTGCGTGCTCTCCAA	0.672																																																0													76	81	79					19																	3381992		2203	4300	6503	SO:0001583	missense	4782			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.313G>A	chr19.hg19:g.3381992G>A	ENSP00000396843:p.Val105Met		A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	hg19	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420303	0.83559	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.81078	-1.45;-1.45;-1.45	3.88	3.88	0.44766	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.87200	0.6118	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.998;0.998	D	0.88894	0.3348	10	0.87932	D	0	-20.5809	14.8198	0.70062	0.0:0.0:1.0:0.0	.	105;105;96;105;96	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	M	96;96;96;105;105;105	ENSP00000378543:V96M;ENSP00000301935:V96M;ENSP00000342194:V105M	ENSP00000269778:V105M	V	+	1	0	NFIC	3332992	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.472000	0.97709	1.879000	0.54435	0.467000	0.42956	GTG		0.672	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		A	3381992	G	A	3381992	3	1	27	1	0	0	0	0	1	0	0	0	10374	1145	40	1	326	1	NFIC	19	3381992	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	445373	3381992	55746991	73	1956											
CYP2A13	1553	hgsc.bcm.edu	37	19	41596036	41596037	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr19:41596036_41596037GC>TT	ENST00000330436.3	+	3	428_429	c.428_429GC>TT	c.(427-429)cGC>cTT	p.R143L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	143					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R143H(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GTGGGCAAGCGCGGCATCGAGG	0.698																																																1	Substitution - Missense(1)	prostate(1)																																								SO:0001583	missense	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	Exception_encountered	chr19.hg19:g.41596036_41596037delinsTT	ENSP00000332679:p.Arg143Leu		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation|Silent	SNP	ENST00000330436.3	hg19	CCDS12571.1																																																																																				0.698	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		TT	41596037	GC	TT	41596036	3	4	27	1	0	0	0	0	1	0	0	0	4163	1087	38	4	438	4	CYP2A13	19	41596036	Missense_Mutation	DNP	GC	TCGA-5P-A9JU-01A-11D-A42J-10	38214044	41596036	17532947	74	1957											
HNRNPUL1	11100	hgsc.bcm.edu	37	19	41808585	41808585	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr19:41808585C>A	ENST00000392006.3	+	12	1876	c.1703C>A	c.(1702-1704)cCa>cAa	p.P568Q	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P479Q|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P468Q|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.P568Q|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P454Q|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P468Q|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P468Q	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	568	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTCACGTTGCCAGATGTTGGG	0.547																																																0													80	79	79					19																	41808585		2203	4298	6501	SO:0001583	missense	11100			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1703C>A	chr19.hg19:g.41808585C>A	ENSP00000375863:p.Pro568Gln		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	hg19	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567631	0.86439	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.81044	0.4741	M	0.90082	3.085	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;1.0;0.991;0.999;1.0;1.0	D	0.84535	0.0635	10	0.87932	D	0	-7.3032	17.9067	0.88920	0.0:1.0:0.0:0.0	.	479;468;568;92;454;568;468	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-5;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;.;HNRL1_HUMAN;.	Q	468;568;454;479	ENSP00000340857:P468Q;ENSP00000375863:P568Q;ENSP00000367460:P454Q;ENSP00000263367:P479Q	ENSP00000263367:P479Q	P	+	2	0	HNRNPUL1	46500425	1.000000	0.71417	0.412000	0.26496	0.984000	0.73092	7.283000	0.78640	2.837000	0.97791	0.591000	0.81541	CCA		0.547	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		A	41808585	C	A	41808585	3	1	27	1	0	0	0	0	1	0	0	0	7276	594	21	4	1749	4	HNRNPUL1	19	41808585	Missense_Mutation	SNP	C	TCGA-5P-A9JU-01A-11D-A42J-10	212549	41808585	17320398	75	1958											
BCAM	4059	hgsc.bcm.edu	37	19	45322442	45322442	+	Missense_Mutation	SNP	G	G	A	rs577903824	byFrequency	TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr19:45322442G>A	ENST00000270233.6	+	11	1488	c.1466G>A	c.(1465-1467)gGg>gAg	p.G489E	BCAM_ENST00000589651.1_Missense_Mutation_p.G489E	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	489	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCCAATTGGGGGGCAGCGTA	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		15204	0.0		0.0	False		,,,				2504	0.002															0													82	86	84					19																	45322442		2203	4300	6503	SO:0001583	missense	4059			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1466G>A	chr19.hg19:g.45322442G>A	ENSP00000270233:p.Gly489Glu		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	hg19	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.878110	0.33162	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.15718	2.4;2.4	4.37	3.33	0.38152	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38746	0.1052	M	0.78637	2.42	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.15896	-1.0421	9	0.25106	T	0.35	-6.5398	10.0929	0.42458	0.0:0.0:0.7988:0.2012	.	489	P50895	BCAM_HUMAN	E	489	ENSP00000270233:G489E;ENSP00000375817:G489E	ENSP00000270233:G489E	G	+	2	0	BCAM	50014282	0.736000	0.28164	0.004000	0.12327	0.000000	0.00434	1.570000	0.36439	0.983000	0.38602	-0.349000	0.07799	GGG		0.602	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		A	45322442	G	A	45322442	3	1	27	1	0	0	0	0	1	0	0	0	1344	1232	43	2	1508	2	BCAM	19	45322442	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10	3513857	45322442	13806541	76	1959											
CD3EAP	10849	hgsc.bcm.edu	37	19	45911526	45911526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr19:45911526delG	ENST00000309424.3	+	3	788	c.300delG	c.(298-300)gagfs	p.E100fs	ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Frame_Shift_Del_p.E102fs|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	100					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CCTCAACGGAGGCAGGAGGTG	0.642																																																0													56	62	60					19																	45911526		2203	4300	6503	SO:0001589	frameshift_variant	10849			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.300delG	chr19.hg19:g.45911526delG	ENSP00000310966:p.Glu100fs		Q32N11|Q7Z5U2|Q9UPF6	Frame_Shift_Del	DEL	ENST00000309424.3	hg19	CCDS12661.1																																																																																				0.642	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		-	45911526	G	-	45911526	7	5	27	1	0	1	0	1	0	0	0	0	3014	991	35	0	310	0	CD3EAP	19	45911526	Frame_Shift_Del	DEL	G	TCGA-5P-A9JU-01A-11D-A42J-10	589084	45911526	13217457	77	1960											
AP2A1	160	hgsc.bcm.edu	37	19	50305265	50305285	+	In_Frame_Del	DEL	CTGGGGCTGCGGGCAGCCCCT	CTGGGGCTGCGGGCAGCCCCT	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	CTGGGGCTGCGGGCAGCCCCT	CTGGGGCTGCGGGCAGCCCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr19:50305265_50305285delCTGGGGCTGCGGGCAGCCCCT	ENST00000359032.5	+	15	1981_2001	c.1981_2001delCTGGGGCTGCGGGCAGCCCCT	c.(1981-2001)ctggggctgcgggcagcccctdel	p.LGLRAAP661del	AP2A1_ENST00000354293.5_In_Frame_Del_p.LGLRAAP661del	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	661					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CGCCGACCTCCTGGGGCTGCGGGCAGCCCCTCCCCCGGCAG	0.756																																																0																																										SO:0001651	inframe_deletion	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1981_2001delCTGGGGCTGCGGGCAGCCCCT	chr19.hg19:g.50305265_50305285delCTGGGGCTGCGGGCAGCCCCT	ENSP00000351926:p.Leu661_Pro667del		Q96CI7|Q96PP6|Q96PP7|Q9H070	In_Frame_Del	DEL	ENST00000359032.5	hg19	CCDS46148.1																																																																																				0.756	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			-	50305285	CTGGGGCTGCGGGCAGCCCCT	-	50305265	7	5	27	1	0	1	0	1	0	0	0	0	739	680	24	0	2039	0	AP2A1	19	50305265	In_Frame_Del	DEL	CTGGGGCTGCGGGCAGCCCCT	TCGA-5P-A9JU-01A-11D-A42J-10	4393739	50305265	8823718	78	1961											
USP29	57663	hgsc.bcm.edu	37	19	57640983	57640984	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr19:57640983_57640984CT>AA	ENST00000254181.4	+	4	1394_1395	c.940_941CT>AA	c.(940-942)CTc>AAc	p.L314N	USP29_ENST00000598197.1_Missense_Mutation_p.L314N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	314	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGATGACTTACTCACTCAAGGT	0.421																																																0																																										SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		Exception_encountered	chr19.hg19:g.57640983_57640984delinsAA	ENSP00000254181:p.Leu314Asn			Missense_Mutation	SNP	ENST00000254181.4	hg19	CCDS33124.1																																																																																				0.421	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			AA	57640984	CT	AA	57640983	3	1	27	1	0	0	0	0	1	0	0	0	17064	565	20	4	942	4	USP29	19	57640983	Missense_Mutation	DNP	CT	TCGA-5P-A9JU-01A-11D-A42J-10	7335718	57640983	1488000	79	1962											
VN1R1	57191	hgsc.bcm.edu	37	19	57967199	57967199	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr19:57967199A>G	ENST00000321039.3	-	1	655	c.656T>C	c.(655-657)tTa>tCa	p.L219S	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	219					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GACTGCATGTAATGAGCTAAA	0.398																																																0													106	100	102					19																	57967199		2203	4300	6503	SO:0001583	missense	57191			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.656T>C	chr19.hg19:g.57967199A>G	ENSP00000322339:p.Leu219Ser		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	hg19	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469117	0.43839	.	.	ENSG00000178201	ENST00000321039	T	0.39056	1.1	4.11	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.55257	0.1909	M	0.67625	2.065	0.09310	N	1	D	0.58268	0.982	D	0.63381	0.914	T	0.40534	-0.9558	9	0.87932	D	0	.	6.4555	0.21928	0.783:0.0:0.0:0.217	.	219	Q9GZP7	VN1R1_HUMAN	S	219	ENSP00000322339:L219S	ENSP00000322339:L219S	L	-	2	0	VN1R1	62659011	0.012000	0.17670	0.002000	0.10522	0.002000	0.02628	1.890000	0.39728	1.885000	0.54596	0.481000	0.45027	TTA		0.398	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		G	57967199	A	G	57967199	3	3	27	1	0	0	0	0	1	0	0	0	17183	372	13	3	409	3	VN1R1	19	57967199	Missense_Mutation	SNP	A	TCGA-5P-A9JU-01A-11D-A42J-10	326216	57967199	1161784	80	1963											
ZNF341	84905	hgsc.bcm.edu	37	20	32376749	32376749	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr20:32376749G>A	ENST00000375200.1	+	13	2298	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	ZNF341_ENST00000342427.2_Missense_Mutation_p.E638K|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GTTGATCCACGAGCCCTTCAA	0.552																																																0													120	99	106					20																	32376749		2203	4300	6503	SO:0001583	missense	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1933G>A	chr20.hg19:g.32376749G>A	ENSP00000364346:p.Glu645Lys		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.8	4.207734	0.79240	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.08008	3.14;3.14	4.7	4.7	0.59300	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061993	0.64402	D	0.000007	T	0.10380	0.0254	N	0.04355	-0.22	0.54753	D	0.999989	D;D;D;D	0.76494	0.999;0.957;0.999;0.999	P;B;P;P	0.56751	0.727;0.198;0.727;0.805	T	0.44847	-0.9301	10	0.72032	D	0.01	-30.0808	18.1856	0.89791	0.0:0.0:1.0:0.0	.	586;497;645;638	Q504V9;B3KU97;Q9BYN7;Q9BYN7-2	.;.;ZN341_HUMAN;.	K	638;645	ENSP00000344308:E638K;ENSP00000364346:E645K	ENSP00000344308:E638K	E	+	1	0	ZNF341	31840410	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.413000	0.80104	2.624000	0.88883	0.555000	0.69702	GAG		0.552	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				A	32376749	G	A	32376749	3	1	27	1	0	0	0	0	1	0	0	0	17862	1059	37	1	1962	1	ZNF341	20	32376749	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10		32376749	30648771	81	1964											
ADNP	23394	hgsc.bcm.edu	37	20	49510165	49510165	+	Silent	SNP	T	T	C			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr20:49510165T>C	ENST00000396029.3	-	5	1653	c.1086A>G	c.(1084-1086)caA>caG	p.Q362Q	ADNP_ENST00000349014.3_Silent_p.Q362Q|ADNP_ENST00000396032.3_Silent_p.Q362Q|ADNP_ENST00000371602.4_Silent_p.Q362Q	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	362					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CAGACTGAGATTGTTGAGGAA	0.498																																																0													142	134	137					20																	49510165		2203	4300	6503	SO:0001819	synonymous_variant	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1086A>G	chr20.hg19:g.49510165T>C			E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	hg19	CCDS13433.1																																																																																				0.498	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		C	49510165	T	C	49510165	2	2	27	1	0	0	0	0	0	0	0	1	323	1490	52	3		3	ADNP	20	49510165	Silent	SNP	T	TCGA-5P-A9JU-01A-11D-A42J-10	17133416	49510165	13515355	82	1965											
ABCG1	9619	hgsc.bcm.edu	37	21	43693428	43693428	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr21:43693428delG	ENST00000361802.2	+	4	565	c.420delG	c.(418-420)aagfs	p.K140fs	ABCG1_ENST00000347800.2_Frame_Shift_Del_p.K137fs|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Frame_Shift_Del_p.K142fs|ABCG1_ENST00000343687.3_Frame_Shift_Del_p.K151fs|ABCG1_ENST00000398449.3_Frame_Shift_Del_p.K140fs|ABCG1_ENST00000398437.1_Frame_Shift_Del_p.K286fs|ABCG1_ENST00000340588.4_Frame_Shift_Del_p.K248fs	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	140	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CGGGCATGAAGGGGGCCGTCC	0.657																																																0													60	65	64					21																	43693428		2203	4300	6503	SO:0001589	frameshift_variant	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.420delG	chr21.hg19:g.43693428delG	ENSP00000354995:p.Lys140fs		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Frame_Shift_Del	DEL	ENST00000361802.2	hg19	CCDS13682.1																																																																																				0.657	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		-	43693428	G	-	43693428	7	5	27	1	0	1	0	1	0	0	0	0	68	991	35	0	602	0	ABCG1	21	43693428	Frame_Shift_Del	DEL	G	TCGA-5P-A9JU-01A-11D-A42J-10		43693428	4436467	83	1966											
SMARCB1	6598	hgsc.bcm.edu	37	22	24176330	24176330	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chr22:24176330G>A	ENST00000263121.7	+	9	1317	c.1121G>A	c.(1120-1122)cGg>cAg	p.R374Q	SMARCB1_ENST00000407082.3_Missense_Mutation_p.R328Q|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407422.3_Missense_Mutation_p.R365Q|SMARCB1_ENST00000344921.6_Missense_Mutation_p.R383Q	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	374					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.R374Q(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TCTTCCAGGCGGATGAGGCGT	0.662			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	4	Unknown(2)|Substitution - Missense(1)|Deletion - In frame(1)	central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)											34	26	29					22																	24176330		2194	4299	6493	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1121G>A	chr22.hg19:g.24176330G>A	ENSP00000263121:p.Arg374Gln		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	hg19	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551141	0.86127	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.97352	-4.27;-4.35;-4.3;-4.18	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.97996	0.9340	M	0.76574	2.34	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.61397	0.888;0.598;0.776	D	0.98914	1.0781	10	0.87932	D	0	-9.4379	17.5847	0.87978	0.0:0.0:1.0:0.0	.	383;365;374	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	Q	383;374;365;328	ENSP00000340883:R383Q;ENSP00000263121:R374Q;ENSP00000383984:R365Q;ENSP00000385226:R328Q	ENSP00000263121:R374Q	R	+	2	0	SMARCB1	22506330	1.000000	0.71417	0.998000	0.56505	0.252000	0.25951	9.473000	0.97714	2.475000	0.83589	0.442000	0.29010	CGG		0.662	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		A	24176330	G	A	24176330	3	1	27	1	0	0	0	0	1	0	0	0	14780	1116	39	1	1155	1	SMARCB1	22	24176330	Missense_Mutation	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10		24176330	27128236	84	1967											
VSIG4	11326	hgsc.bcm.edu	37	X	65253395	65253395	+	Silent	SNP	G	G	A			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chrX:65253395G>A	ENST00000374737.4	-	2	441	c.333C>T	c.(331-333)taC>taT	p.Y111Y	VSIG4_ENST00000412866.2_Silent_p.Y111Y|VSIG4_ENST00000455586.2_Silent_p.Y111Y	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	111	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCACACGTGTAGTGGCTCC	0.547																																																0													140	121	128					X																	65253395		2203	4300	6503	SO:0001819	synonymous_variant	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.333C>T	chrX.hg19:g.65253395G>A			Q6UXI4	Silent	SNP	ENST00000374737.4	hg19	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173588	0.01646	.	.	ENSG00000155659	ENST00000427538	.	.	.	4.89	2.08	0.27032	.	.	.	.	.	T	0.48537	0.1505	.	.	.	0.34643	D	0.720888	.	.	.	.	.	.	T	0.53760	-0.8393	4	.	.	.	-14.3402	7.2184	0.25973	0.3107:0.0:0.6893:0.0	.	.	.	.	Y	38	.	.	H	-	1	0	VSIG4	65170120	0.637000	0.27216	0.623000	0.29173	0.038000	0.13279	0.292000	0.19011	0.318000	0.23185	0.600000	0.82982	CAC		0.547	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		A	65253395	G	A	65253395	2	1	27	1	0	0	0	0	0	0	0	1	17230	1372	48	2		2	VSIG4	23	65253395	Silent	SNP	G	TCGA-5P-A9JU-01A-11D-A42J-10		65253395	90017165	85	1968											
AMOT	154796	hgsc.bcm.edu	37	X	112065566	112065566	+	Nonsense_Mutation	SNP	A	A	T			TCGA-5P-A9JU-01A-11D-A42J-10	TCGA-5P-A9JU-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d6969c41-5fa5-4853-95a0-0e473b44a505	f87abecd-d116-48b1-bf22-7584bab45053	g.chrX:112065566A>T	ENST00000524145.1	-	2	863	c.789T>A	c.(787-789)taT>taA	p.Y263*	AMOT_ENST00000462114.1_5'Flank|AMOT_ENST00000371958.1_Nonsense_Mutation_p.Y31*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.Y263*|AMOT_ENST00000304758.1_Intron|AMOT_ENST00000371962.1_Nonsense_Mutation_p.Y31*			Q4VCS5	AMOT_HUMAN	angiomotin	263					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GATGCTCACTATAGAAGTGCC	0.557																																																0													99	84	89					X																	112065566		692	1591	2283	SO:0001587	stop_gained	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.789T>A	chrX.hg19:g.112065566A>T	ENSP00000429013:p.Tyr263*		Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	ENST00000524145.1	hg19	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	A	32	5.111330	0.94339	.	.	ENSG00000126016	ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.36	3.02	0.34903	.	0.059683	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9868	8.5979	0.33727	0.8525:0.0:0.1475:0.0	.	.	.	.	X	263;31;263;31	.	ENSP00000361026:Y31X	Y	-	3	2	AMOT	111952222	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.688000	0.54699	1.798000	0.52647	0.430000	0.28490	TAT		0.557	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		T	112065566	A	T	112065566	4	4	27	1	0	0	0	0	0	1	0	0	582	456	16	5	2509	5	AMOT	23	112065566	Nonsense_Mutation	SNP	A	TCGA-5P-A9JU-01A-11D-A42J-10	46812171	112065566	43204994	86	1969											
ARHGEF19	128272	hgsc.bcm.edu	37	1	16532449	16532449	+	Silent	SNP	C	C	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr1:16532449C>T	ENST00000270747.3	-	8	1564	c.1428G>A	c.(1426-1428)caG>caA	p.Q476Q	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	476	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGCGCTCCTGGTAGGCCT	0.662																																																0													41	40	40					1																	16532449		2203	4300	6503	SO:0001819	synonymous_variant	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1428G>A	chr1.hg19:g.16532449C>T			A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	hg19	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	9.573	1.121595	0.20877	.	.	ENSG00000142632	ENST00000449495	.	.	.	4.88	2.62	0.31277	.	.	.	.	.	T	0.59252	0.2180	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55749	-0.8092	4	.	.	.	.	10.0467	0.42190	0.0:0.7963:0.0:0.2037	.	.	.	.	K	165	.	.	R	-	2	0	ARHGEF19	16405036	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.513000	0.45494	1.044000	0.40200	-0.254000	0.11334	AGG		0.662	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		T	16532449	C	T	16532449	2	4	28	1	0	0	0	0	0	0	0	1	902	680	24	2		2	ARHGEF19	1	16532449	Silent	SNP	C	TCGA-5P-A9JV-01A-12D-A42J-10		16532449	232718172	1	1970											
SFPQ	6421	hgsc.bcm.edu	37	1	35657046	35657046	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr1:35657046G>A	ENST00000357214.5	-	2	1011	c.913C>T	c.(913-915)Cct>Tct	p.P305S		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	305	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				ATATCAGCAGGTAGATTCCCA	0.388			T	TFE3	papillary renal cell																																		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													103	104	104					1																	35657046		2203	4300	6503	SO:0001583	missense	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.913C>T	chr1.hg19:g.35657046G>A	ENSP00000349748:p.Pro305Ser		P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	hg19	CCDS388.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223348	0.95139	.	.	ENSG00000116560	ENST00000357214	T	0.08807	3.05	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	L	0.35644	1.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00770	-1.1573	10	0.66056	D	0.02	-12.496	18.8921	0.92408	0.0:0.0:1.0:0.0	.	305	P23246	SFPQ_HUMAN	S	305	ENSP00000349748:P305S	ENSP00000349748:P305S	P	-	1	0	SFPQ	35429633	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	9.807000	0.99171	2.439000	0.82584	0.563000	0.77884	CCT		0.388	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		A	35657046	G	A	35657046	3	1	28	1	0	0	0	0	1	0	0	0	14166	1261	44	2	1246	2	SFPQ	1	35657046	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	19124597	35657046	213593575	2	1971											
KIF14	9928	hgsc.bcm.edu	37	1	200587031	200587031	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr1:200587031T>C	ENST00000367350.4	-	2	1259	c.821A>G	c.(820-822)gAa>gGa	p.E274G		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	274	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|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)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGTTCTTTTTTCTAAGCTCCC	0.383																																																0													203	199	200					1																	200587031		2203	4300	6503	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.821A>G	chr1.hg19:g.200587031T>C	ENSP00000356319:p.Glu274Gly		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	hg19	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085732	0.36758	.	.	ENSG00000118193	ENST00000367350	T	0.76186	-1.0	5.24	2.91	0.33838	.	0.398430	0.23777	N	0.044665	T	0.61223	0.2330	L	0.29908	0.895	0.27788	N	0.94291	B	0.15141	0.012	B	0.11329	0.006	T	0.55939	-0.8061	10	0.72032	D	0.01	.	9.4118	0.38496	0.0:0.1458:0.0:0.8542	.	274	Q15058	KIF14_HUMAN	G	274	ENSP00000356319:E274G	ENSP00000356319:E274G	E	-	2	0	KIF14	198853654	0.991000	0.36638	0.168000	0.22838	0.811000	0.45836	2.660000	0.46749	0.321000	0.23259	0.477000	0.44152	GAA		0.383	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		C	200587031	T	C	200587031	3	2	28	1	0	0	0	0	1	0	0	0	8278	1783	62	3	4241	3	KIF14	1	200587031	Missense_Mutation	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10	164929985	200587031	48663590	3	1972											
ADCY3	109	hgsc.bcm.edu	37	2	25062898	25062898	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr2:25062898T>A	ENST00000260600.5	-	6	2050	c.1199A>T	c.(1198-1200)tAt>tTt	p.Y400F	ADCY3_ENST00000405392.1_Missense_Mutation_p.Y11F	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	400					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CTCCCGCACATACCTGCCAGG	0.637																																																0													85	94	91					2																	25062898		2203	4300	6503	SO:0001583	missense	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1199A>T	chr2.hg19:g.25062898T>A	ENSP00000260600:p.Tyr400Phe		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	hg19	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535166	0.64972	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.05	5.05	0.67936	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.125643	0.56097	D	0.000028	D	0.83266	0.5217	L	0.33245	0.995	0.37564	D	0.919179	D;D;D	0.76494	0.999;0.999;0.992	D;D;D	0.79108	0.992;0.992;0.966	D	0.84410	0.0565	10	0.36615	T	0.2	.	13.0155	0.58754	0.0:0.0:0.0:1.0	.	400;400;11	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	F	400;11;375;26;156;350	ENSP00000260600:Y400F;ENSP00000384484:Y11F;ENSP00000410120:Y26F;ENSP00000399275:Y156F;ENSP00000389799:Y350F	ENSP00000260600:Y400F	Y	-	2	0	ADCY3	24916402	1.000000	0.71417	0.995000	0.50966	0.925000	0.55904	3.945000	0.56637	1.885000	0.54596	0.448000	0.29417	TAT		0.637	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			A	25062898	T	A	25062898	3	1	28	1	0	0	0	0	1	0	0	0	295	1406	49	5	2299	5	ADCY3	2	25062898	Missense_Mutation	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10		25062898	218136475	4	1973											
GTF2A1L	11036	hgsc.bcm.edu	37	2	48896944	48896944	+	Silent	SNP	T	T	C			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr2:48896944T>C	ENST00000403751.3	+	7	1099	c.1062T>C	c.(1060-1062)gaT>gaC	p.D354D	STON1-GTF2A1L_ENST00000394751.3_Silent_p.D1011D|STON1-GTF2A1L_ENST00000405008.1_Silent_p.D1058D|LHCGR_ENST00000420913.3_5'Flank|GTF2A1L_ENST00000430487.2_Silent_p.D320D|STON1-GTF2A1L_ENST00000394754.1_Silent_p.D1058D|STON1-GTF2A1L_ENST00000402114.2_Silent_p.D1058D|STON1-GTF2A1L_ENST00000309827.2_Silent_p.D1058D	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	354					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAGCGGTGATACATCTTCCA	0.373																																																0													109	116	114					2																	48896944		2203	4300	6503	SO:0001819	synonymous_variant	286749			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"TFIIA alpha/beta like factor"	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1062T>C	chr2.hg19:g.48896944T>C			B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	hg19	CCDS46281.1																																																																																				0.373	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		C	48896944	T	C	48896944	2	2	28	1	0	0	0	0	0	0	0	1	6855	1403	49	3		3	GTF2A1L	2	48896944	Silent	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10	23834046	48896944	194302429	5	1974											
ALMS1	7840	hgsc.bcm.edu	37	2	73613036	73613036	+	Missense_Mutation	SNP	G	G	C	rs61156725|rs72319667|rs3074417	byFrequency	TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr2:73613036G>C	ENST00000264448.6	+	1	151	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E14Q|ALMS1_ENST00000377715.1_Missense_Mutation_p.E14Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	14	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E27_E28delEE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CGAGCTggaggaggaggagga	0.692																																																1	Deletion - In frame(1)	ovary(1)											3	4	4					2																	73613036		1509	3234	4743	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.40G>C	chr2.hg19:g.73613036G>C	ENSP00000264448:p.Glu14Gln		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731519	0.48939	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.26373	2.4;2.61;1.74	3.19	3.19	0.36642	.	0.259523	0.20097	U	0.099311	T	0.32436	0.0829	N	0.19112	0.55	0.22317	N	0.999202	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.03493	-1.1031	10	0.87932	D	0	.	10.1262	0.42652	0.0:0.0:1.0:0.0	.	14;14	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	Q	14	ENSP00000386627:E14Q;ENSP00000264448:E14Q;ENSP00000366944:E14Q	ENSP00000264448:E14Q	E	+	1	0	ALMS1	73466544	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.034000	0.41145	2.070000	0.61991	0.484000	0.47621	GAG		0.692	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		C	73613036	G	C	73613036	3	2	28	1	0	0	0	0	1	0	0	0	535	1175	41	4	42	4	ALMS1	2	73613036	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	24716092	73613036	169586337	6	1975											
CNTNAP5	129684	hgsc.bcm.edu	37	2	125367417	125367417	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr2:125367417G>A	ENST00000431078.1	+	12	2157	c.1793G>A	c.(1792-1794)gGg>gAg	p.G598E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	598	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGCACCAGGGGAATACAGCC	0.532																																																0													72	71	71					2																	125367417		1870	4106	5976	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1793G>A	chr2.hg19:g.125367417G>A	ENSP00000399013:p.Gly598Glu		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828320	0.90955	.	.	ENSG00000155052	ENST00000431078	T	0.21734	1.99	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.50627	D	0.000105	T	0.56645	0.1999	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63664	-0.6586	10	0.72032	D	0.01	.	18.6671	0.91495	0.0:0.0:1.0:0.0	.	598	Q8WYK1	CNTP5_HUMAN	E	598	ENSP00000399013:G598E	ENSP00000399013:G598E	G	+	2	0	CNTNAP5	125083887	1.000000	0.71417	0.993000	0.49108	0.731000	0.41821	8.884000	0.92432	2.826000	0.97356	0.655000	0.94253	GGG		0.532	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125367417	G	A	125367417	3	1	28	1	0	0	0	0	1	0	0	0	3652	1232	43	2	1839	2	CNTNAP5	2	125367417	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	51754381	125367417	117831956	7	1976											
NGEF	25791	hgsc.bcm.edu	37	2	233785268	233785268	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr2:233785268T>A	ENST00000264051.3	-	5	832	c.554A>T	c.(553-555)aAa>aTa	p.K185I	NGEF_ENST00000373552.4_Missense_Mutation_p.K93I|NGEF_ENST00000409079.1_Missense_Mutation_p.K93I	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	185	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGAGTCGATTTATCTCGGTA	0.443																																																0													84	90	88					2																	233785268		2203	4300	6503	SO:0001583	missense	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.554A>T	chr2.hg19:g.233785268T>A	ENSP00000264051:p.Lys185Ile		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	hg19	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.569333	0.45798	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000409079	T;T	0.72725	-0.5;-0.68	5.01	5.01	0.66863	.	0.052813	0.85682	D	0.000000	T	0.75295	0.3830	L	0.29908	0.895	0.80722	D	1	B;D;P	0.71674	0.323;0.998;0.952	B;D;B	0.78314	0.079;0.991;0.438	T	0.74934	-0.3495	10	0.36615	T	0.2	-13.8527	14.714	0.69254	0.0:0.0:0.0:1.0	.	93;93;185	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	I	185;93;75;93	ENSP00000264051:K185I;ENSP00000362653:K93I	ENSP00000264051:K185I	K	-	2	0	NGEF	233493512	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.295000	0.59049	1.887000	0.54652	0.402000	0.26972	AAA		0.443	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		A	233785268	T	A	233785268	3	1	28	1	0	0	0	0	1	0	0	0	10396	1841	64	5	1622	5	NGEF	2	233785268	Missense_Mutation	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10	108417851	233785268	9414105	8	1977											
ZNF385D	79750	hgsc.bcm.edu	37	3	21465455	21465455	+	Splice_Site	SNP	C	C	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr3:21465455C>A	ENST00000281523.2	-	7	1472	c.954G>T	c.(952-954)ggG>ggT	p.G318G		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	318						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGACACTCACCCCCAGTGGAT	0.453																																																0													141	141	141					3																	21465455		2203	4300	6503	SO:0001630	splice_region_variant	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.954+1G>T	chr3.hg19:g.21465455C>A				Silent	SNP	ENST00000281523.2	hg19	CCDS2636.1																																																																																				0.453	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	Silent	A	21465455	C	A	21465455	5	1	28	1	0	0	0	0	0	0	1	0	17883	637	22	4	241	4	ZNF385D	3	21465455	Splice_Site	SNP	C	TCGA-5P-A9JV-01A-12D-A42J-10		21465455	176556975	9	1978											
ZNF197	10168	hgsc.bcm.edu	37	3	44671000	44671000	+	Silent	SNP	G	G	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr3:44671000G>A	ENST00000396058.1	+	1	521	c.354G>A	c.(352-354)gaG>gaA	p.E118E	ZNF197_ENST00000383745.2_Silent_p.E118E|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.E118E|ZNF197_ENST00000383744.4_Silent_p.E118E			O14709	ZN197_HUMAN	zinc finger protein 197	118	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CCCTGGTAGAGGAGCTGCAGA	0.567																																																0													43	43	43					3																	44671000		2203	4300	6503	SO:0001819	synonymous_variant	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.354G>A	chr3.hg19:g.44671000G>A			B2RAH8|Q86VG0	Silent	SNP	ENST00000396058.1	hg19	CCDS2717.1																																																																																				0.567	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		A	44671000	G	A	44671000	2	1	28	1	0	0	0	0	0	0	0	1	17764	991	35	2		2	ZNF197	3	44671000	Silent	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	23205545	44671000	153351430	10	1979											
TWF2	11344	hgsc.bcm.edu	37	3	52266117	52266117	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr3:52266117G>A	ENST00000305533.5	-	3	368	c.125C>T	c.(124-126)tCg>tTg	p.S42L	TLR9_ENST00000597542.1_5'UTR|TLR9_ENST00000494383.1_5'Flank|TWF2_ENST00000499914.2_Missense_Mutation_p.S42L	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	42	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGCTCCTGCGAGGCACCCAG	0.697											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													28	28	28					3																	52266117		2200	4297	6497	SO:0001583	missense	11344			Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"protein tyrosine kinase 9-like (A6-related protein)", "PTK9L protein tyrosine kinase 9-like (A6-related protein)", "twinfilin, actin-binding protein, homolog 2 (Drosophila)"	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.125C>T	chr3.hg19:g.52266117G>A	ENSP00000303908:p.Ser42Leu	983	Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	hg19	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883869	0.33255	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.28454	1.61;1.61	5.61	1.31	0.21738	Actin-binding, cofilin/tropomyosin type (3);	.	.	.	.	T	0.11452	0.0279	N	0.17082	0.46	0.32664	N	0.517723	B;P	0.35542	0.309;0.508	B;B	0.24701	0.036;0.055	T	0.23261	-1.0193	9	0.10902	T	0.67	.	3.575	0.07932	0.2903:0.0:0.4331:0.2766	.	42;42	D6RG15;Q6IBS0	.;TWF2_HUMAN	L	42	ENSP00000303908:S42L;ENSP00000426464:S42L	ENSP00000303908:S42L	S	-	2	0	TWF2	52241157	0.998000	0.40836	0.818000	0.32626	0.944000	0.59088	2.573000	0.46007	0.733000	0.32492	0.455000	0.32223	TCG		0.697	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			A	52266117	G	A	52266117	3	1	28	1	0	0	0	0	1	0	0	0	16787	1059	37	1	952	1	TWF2	3	52266117	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	7595117	52266117	145756313	11	1980											
PRR23B	389151	hgsc.bcm.edu	37	3	138739039	138739039	+	Nonsense_Mutation	SNP	G	G	C			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr3:138739039G>C	ENST00000329447.5	-	1	729	c.465C>G	c.(463-465)taC>taG	p.Y155*	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	155										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTCCTCCTCGTAGGCCTCTT	0.632																																																0													38	44	42					3																	138739039		2203	4300	6503	SO:0001587	stop_gained	389151			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.465C>G	chr3.hg19:g.138739039G>C	ENSP00000328768:p.Tyr155*		B2RNV9	Nonsense_Mutation	SNP	ENST00000329447.5	hg19	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845131	0.71603	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.41	-3.3	0.05003	.	3.020250	0.01139	N	0.006140	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8996	0.29727	0.6481:0.0:0.3519:0.0	.	.	.	.	X	155	.	ENSP00000328768:Y155X	Y	-	3	2	PRR23B	140221729	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.259000	0.02861	-0.945000	0.03681	0.456000	0.33151	TAC		0.632	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		C	138739039	G	C	138739039	4	2	28	1	0	0	0	0	0	1	0	0	12600	1140	40	4	336	4	PRR23B	3	138739039	Nonsense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	86472922	138739039	59283391	12	1981											
FAM193A	8603	hgsc.bcm.edu	37	4	2696771	2696771	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr4:2696771A>G	ENST00000324666.5	+	15	2669	c.2318A>G	c.(2317-2319)cAc>cGc	p.H773R	FAM193A_ENST00000382839.3_Missense_Mutation_p.H773R|FAM193A_ENST00000502458.1_Missense_Mutation_p.H795R|FAM193A_ENST00000545951.1_Missense_Mutation_p.H773R|FAM193A_ENST00000505311.1_Missense_Mutation_p.H773R	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	773										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TGCTCTGAGCACAGCTCCAGC	0.597																																																0													101	71	81					4																	2696771		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2318A>G	chr4.hg19:g.2696771A>G	ENSP00000324587:p.His773Arg		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	hg19	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655329	0.67586	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	N	0.20685	0.6	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.75484	0.986;0.986;0.986;0.961;0.986	T	0.30851	-0.9964	10	0.10902	T	0.67	-19.6886	14.9019	0.70687	1.0:0.0:0.0:0.0	.	773;795;773;795;773	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	R	773;773;773;795;627	ENSP00000372290:H773R;ENSP00000324587:H773R;ENSP00000443617:H773R;ENSP00000427505:H795R;ENSP00000427260:H627R	ENSP00000324587:H773R	H	+	2	0	FAM193A	2666569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.338000	0.79269	2.108000	0.64289	0.533000	0.62120	CAC		0.597	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		G	2696771	A	G	2696771	3	3	28	1	0	0	0	0	1	0	0	0	5526	159	6	3	2368	3	FAM193A	4	2696771	Missense_Mutation	SNP	A	TCGA-5P-A9JV-01A-12D-A42J-10		2696771	188457505	13	1982											
BOD1L	259282	hgsc.bcm.edu	37	4	13605661	13605662	+	Frame_Shift_Ins	INS	-	-	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr4:13605661_13605662insT	ENST00000040738.5	-	10	2997_2998	c.2862_2863insA	c.(2860-2865)aaacagfs	p.Q955fs		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	955	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										GACTTACGCTGTTTTTCTGAGT	0.386																																																0																																										SO:0001589	frameshift_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2863dupA	chr4.hg19:g.13605666_13605666dupT	ENSP00000040738:p.Gln955fs		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Frame_Shift_Ins	INS	ENST00000040738.5	hg19	CCDS3411.2																																																																																				0.386	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		T	13605662	-	T	13605661	7	5	28	1	0	1	1	0	0	0	0	0	1483	1386	48	0	6360	0	BOD1L	4	13605661	Frame_Shift_Ins	INS	-	TCGA-5P-A9JV-01A-12D-A42J-10	10908890	13605661	177548615	14	1983											
PAPSS1	9061	hgsc.bcm.edu	37	4	108615096	108615096	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr4:108615096A>C	ENST00000265174.4	-	3	514	c.242T>G	c.(241-243)aTt>aGt	p.I81S	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	81					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GTAGCATGGAATACCATGACA	0.443																																																0													114	103	107					4																	108615096		2203	4300	6503	SO:0001583	missense	9061			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.242T>G	chr4.hg19:g.108615096A>C	ENSP00000265174:p.Ile81Ser		O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	hg19	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718287	0.89205	.	.	ENSG00000138801	ENST00000265174	T	0.77098	-1.07	5.67	5.67	0.87782	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89801	0.6820	M	0.88512	2.96	0.80722	D	1	D	0.67145	0.996	D	0.91635	0.999	D	0.91416	0.5155	10	0.62326	D	0.03	-29.0903	15.9108	0.79473	1.0:0.0:0.0:0.0	.	81	O43252	PAPS1_HUMAN	S	81	ENSP00000265174:I81S	ENSP00000265174:I81S	I	-	2	0	PAPSS1	108834545	1.000000	0.71417	0.972000	0.41901	0.985000	0.73830	8.789000	0.91839	2.156000	0.67533	0.454000	0.30748	ATT		0.443	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			C	108615096	A	C	108615096	3	2	28	1	0	0	0	0	1	0	0	0	11436	101	4	5	1672	5	PAPSS1	4	108615096	Missense_Mutation	SNP	A	TCGA-5P-A9JV-01A-12D-A42J-10	95009435	108615096	82539180	15	1984											
KIAA1109	84162	hgsc.bcm.edu	37	4	123207818	123207818	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr4:123207818A>G	ENST00000264501.4	+	53	9533	c.9160A>G	c.(9160-9162)Atg>Gtg	p.M3054V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.M3054V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M3054V			Q2LD37	K1109_HUMAN	KIAA1109	3054					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCCTGTTACCATGTCAGGGAA	0.403																																																0													148	139	142					4																	123207818		1896	4124	6020	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9160A>G	chr4.hg19:g.123207818A>G	ENSP00000264501:p.Met3054Val		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.80|10.80	1.453953|1.453953	0.26161|0.26161	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.18502	.|2.8;2.8;2.21	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17066|0.17066	0.0410|0.0410	N|N	0.11560|0.11560	0.145|0.145	0.47511|0.47511	D|D	0.999445|0.999445	.|B;P	.|0.40332	.|0.452;0.713	.|P;P	.|0.54815	.|0.557;0.761	T|T	0.03443|0.03443	-1.1036|-1.1036	5|10	.|0.02654	.|T	.|1	.|.	15.8352|15.8352	0.78793|0.78793	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3054;3054	.|Q2LD37-6;Q2LD37	.|.;K1109_HUMAN	R|V	1011|3054	.|ENSP00000264501:M3054V;ENSP00000373390:M3054V;ENSP00000389925:M3054V	.|ENSP00000264501:M3054V	H|M	+|+	2|1	0|0	KIAA1109|KIAA1109	123427268|123427268	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.975000|0.975000	0.68041|0.68041	8.815000|8.815000	0.91973|0.91973	2.149000|2.149000	0.67028|0.67028	0.528000|0.528000	0.53228|0.53228	CAT|ATG		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		G	123207818	A	G	123207818	3	3	28	1	0	0	0	0	1	0	0	0	8210	217	8	3	9362	3	KIAA1109	4	123207818	Missense_Mutation	SNP	A	TCGA-5P-A9JV-01A-12D-A42J-10	14592722	123207818	67946458	16	1985											
FAT4	79633	hgsc.bcm.edu	37	4	126411503	126411503	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr4:126411503T>C	ENST00000394329.3	+	17	13539	c.13526T>C	c.(13525-13527)gTg>gCg	p.V4509A	FAT4_ENST00000335110.5_Missense_Mutation_p.V2750A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4509					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTGCCATCGTGGGCAGCTGC	0.572																																																0													67	67	67					4																	126411503		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13526T>C	chr4.hg19:g.126411503T>C	ENSP00000377862:p.Val4509Ala		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477797	0.63849	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76968	-0.82;-1.06	5.17	4.0	0.46444	.	0.000000	0.31233	U	0.008019	T	0.71178	0.3309	L	0.58583	1.82	0.48632	D	0.999688	B;B;B	0.20780	0.041;0.048;0.041	B;B;B	0.17433	0.012;0.018;0.012	T	0.68697	-0.5340	10	0.38643	T	0.18	.	9.6102	0.39659	0.0:0.0821:0.0:0.9179	.	2750;4509;4508	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	A	4509;2750	ENSP00000377862:V4509A;ENSP00000335169:V2750A	ENSP00000335169:V2750A	V	+	2	0	FAT4	126630953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.897000	0.63231	1.941000	0.56285	0.459000	0.35465	GTG		0.572	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126411503	T	C	126411503	3	2	28	1	0	0	0	0	1	0	0	0	5694	1696	59	3	13592	3	FAT4	4	126411503	Missense_Mutation	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10	3203685	126411503	64742773	17	1986											
TDO2	6999	hgsc.bcm.edu	37	4	156831319	156831319	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr4:156831319C>G	ENST00000536354.2	+	6	638	c.574C>G	c.(574-576)Cta>Gta	p.L192V		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		AAATGAACTGCTACTTAAATC	0.333																																					Colon(57;928 1036 2595 6946 26094)											0													73	78	76					4																	156831319		2203	4300	6503	SO:0001583	missense	6999				CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.574C>G	chr4.hg19:g.156831319C>G	ENSP00000444788:p.Leu192Val			Missense_Mutation	SNP	ENST00000536354.2	hg19	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	C	8.259	0.810699	0.16537	.	.	ENSG00000151790	ENST00000536354	.	.	.	4.92	4.06	0.47325	.	0.069633	0.64402	D	0.000014	T	0.46756	0.1409	L	0.35288	1.05	0.53688	D	0.999978	B	0.31009	0.303	B	0.35727	0.209	T	0.33548	-0.9864	8	.	.	.	-10.8364	11.2334	0.48925	0.0:0.8473:0.0:0.1527	.	192	P48775	T23O_HUMAN	V	192	.	.	L	+	1	2	TDO2	157050769	0.987000	0.35691	0.113000	0.21522	0.342000	0.28953	1.693000	0.37742	1.174000	0.42811	0.644000	0.83932	CTA		0.333	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		G	156831319	C	G	156831319	3	3	28	1	0	0	0	0	1	0	0	0	15732	796	28	4	596	4	TDO2	4	156831319	Missense_Mutation	SNP	C	TCGA-5P-A9JV-01A-12D-A42J-10	30419816	156831319	34322957	18	1987											
PRKAA1	5562	hgsc.bcm.edu	37	5	40764924	40764924	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr5:40764924C>A	ENST00000397128.2	-	7	1246	c.1238G>T	c.(1237-1239)aGt>aTt	p.S413I	PRKAA1_ENST00000354209.3_Missense_Mutation_p.S428I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	413					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)	p.S428T(1)		breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TCGACTTTGACTTCTAATTCC	0.358																																																1	Substitution - Missense(1)	lung(1)											123	108	113					5																	40764924		1853	4113	5966	SO:0001583	missense	5562				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"AMPK, alpha, 1"	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1238G>T	chr5.hg19:g.40764924C>A	ENSP00000380317:p.Ser413Ile		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	hg19	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668512	0.88348	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	D;D	0.84070	-1.67;-1.8	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	M	0.91663	3.23	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.66602	0.883;0.945	D	0.93633	0.6958	10	0.87932	D	0	-15.1947	20.5211	0.99222	0.0:1.0:0.0:0.0	.	413;428	Q13131;Q13131-2	AAPK1_HUMAN;.	I	413;428	ENSP00000380317:S413I;ENSP00000346148:S428I	ENSP00000346148:S428I	S	-	2	0	AC008810.1	40800681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.861000	0.98227	0.650000	0.86243	AGT		0.358	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		A	40764924	C	A	40764924	3	1	28	1	0	0	0	0	1	0	0	0	12498	565	20	4	453	4	PRKAA1	5	40764924	Missense_Mutation	SNP	C	TCGA-5P-A9JV-01A-12D-A42J-10		40764924	140150336	19	1988											
TTC37	9652	hgsc.bcm.edu	37	5	94814018	94814018	+	Silent	SNP	T	T	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr5:94814018T>A	ENST00000358746.2	-	40	4639	c.4341A>T	c.(4339-4341)gcA>gcT	p.A1447A		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1447						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATGCAAGTAGTGCTAGTCTCA	0.378																																																0													89	81	84					5																	94814018		2203	4300	6503	SO:0001819	synonymous_variant	9652			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4341A>T	chr5.hg19:g.94814018T>A			O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	hg19	CCDS4072.1																																																																																				0.378	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		A	94814018	T	A	94814018	2	1	28	1	0	0	0	0	0	0	0	1	16710	1683	59	5		5	TTC37	5	94814018	Silent	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10	54049094	94814018	86101242	20	1989											
SPATA9	83890	hgsc.bcm.edu	37	5	94994606	94994606	+	Silent	SNP	A	A	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr5:94994606A>T	ENST00000274432.8	-	5	627	c.486T>A	c.(484-486)gtT>gtA	p.V162V	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	162					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GCACAGCATTAACACAGACTG	0.343																																																0													104	101	102					5																	94994606		2203	4300	6503	SO:0001819	synonymous_variant	83890			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.486T>A	chr5.hg19:g.94994606A>T			A8K8H3|Q4G122|Q86X33|Q8NA28	Silent	SNP	ENST00000274432.8	hg19	CCDS4076.1																																																																																				0.343	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		T	94994606	A	T	94994606	2	4	28	1	0	0	0	0	0	0	0	1	15021	349	13	5		5	SPATA9	5	94994606	Silent	SNP	A	TCGA-5P-A9JV-01A-12D-A42J-10	180588	94994606	85920654	21	1990											
GABRG2	2566	hgsc.bcm.edu	37	5	161495091	161495091	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr5:161495091T>A	ENST00000361925.4	+	1	306	c.86T>A	c.(85-87)cTc>cAc	p.L29H	GABRG2_ENST00000414552.2_Missense_Mutation_p.L29H|GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000356592.3_Missense_Mutation_p.L29H			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	29					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGATTCTGCTCCTGCTGTCG	0.493																																																0													92	83	86					5																	161495091		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.86T>A	chr5.hg19:g.161495091T>A	ENSP00000354651:p.Leu29His		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	hg19	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977680	0.53720	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	D;T;D	0.81821	-1.54;-1.06;-1.54	5.08	5.08	0.68730	.	0.601929	0.18116	N	0.151218	D	0.83119	0.5185	L	0.57536	1.79	0.80722	D	1	P;P;P	0.44260	0.828;0.69;0.83	P;B;P	0.50860	0.652;0.219;0.569	T	0.82794	-0.0281	10	0.46703	T	0.11	.	12.8183	0.57677	0.0:0.0:0.0:1.0	.	29;29;29	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	H	29	ENSP00000349000:L29H;ENSP00000410732:L29H;ENSP00000354651:L29H	ENSP00000349000:L29H	L	+	2	0	GABRG2	161427669	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.764000	0.62264	1.917000	0.55516	0.402000	0.26972	CTC		0.493	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			A	161495091	T	A	161495091	3	1	28	1	0	0	0	0	1	0	0	0	6174	1551	54	5	88	5	GABRG2	5	161495091	Missense_Mutation	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10	66500485	161495091	19420169	22	1991											
PHIP	55023	hgsc.bcm.edu	37	6	79655729	79655729	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr6:79655729G>C	ENST00000275034.4	-	38	4786	c.4619C>G	c.(4618-4620)cCa>cGa	p.P1540R	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1540					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGTTTTCCCTGGTATTGCAGA	0.343																																																0													96	94	95					6																	79655729		2203	4300	6503	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4619C>G	chr6.hg19:g.79655729G>C	ENSP00000275034:p.Pro1540Arg		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	hg19	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973618	0.34848	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.39592	1.07	6.11	6.11	0.99139	.	0.406312	0.26369	N	0.024775	T	0.17450	0.0419	N	0.19112	0.55	0.38749	D	0.954061	B;B	0.29085	0.232;0.232	B;B	0.23716	0.048;0.048	T	0.05484	-1.0882	9	.	.	.	-14.0131	19.298	0.94131	0.0:0.0:1.0:0.0	.	1540;1540	A7J992;Q8WWQ0	.;PHIP_HUMAN	R	1540;266	ENSP00000275034:P1540R	.	P	-	2	0	PHIP	79712448	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	4.951000	0.63610	2.906000	0.99361	0.655000	0.94253	CCA		0.343	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			C	79655729	G	C	79655729	3	2	28	1	0	0	0	0	1	0	0	0	11844	1348	47	4	858	4	PHIP	6	79655729	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10		79655729	91459338	23	1992											
PRDM13	59336	hgsc.bcm.edu	37	6	100062606	100062606	+	Missense_Mutation	SNP	G	G	T	rs543525191	byFrequency	TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr6:100062606G>T	ENST00000369215.4	+	4	2400	c.2095G>T	c.(2095-2097)Gtt>Ttt	p.V699F		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	699					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGACCCCGAGGTTGGGGGCGG	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		14126	0.002		0.0	False		,,,				2504	0.0															0													32	35	35					6																	100062606		1536	3504	5040	SO:0001583	missense	59336			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.2095G>T	chr6.hg19:g.100062606G>T	ENSP00000358217:p.Val699Phe		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	hg19	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950907	0.34471	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.05717	3.4;3.4	5.66	4.69	0.59074	.	0.355912	0.20414	N	0.092810	T	0.01320	0.0043	N	0.08118	0	0.23862	N	0.996637	B	0.18863	0.031	B	0.22753	0.041	T	0.45804	-0.9236	10	0.72032	D	0.01	-9.2832	6.5857	0.22620	0.2509:0.0:0.7491:0.0	.	699	Q9H4Q3	PRD13_HUMAN	F	699;709	ENSP00000358217:V699F;ENSP00000358216:V709F	ENSP00000358216:V709F	V	+	1	0	PRDM13	100169327	0.496000	0.26059	0.965000	0.40720	0.399000	0.30720	0.923000	0.28757	2.680000	0.91292	0.561000	0.74099	GTT		0.657	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			T	100062606	G	T	100062606	3	4	28	1	0	0	0	0	1	0	0	0	12459	1261	44	4	2109	4	PRDM13	6	100062606	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	20406877	100062606	71052461	24	1993											
EIF3B	8662	hgsc.bcm.edu	37	7	2415106	2415106	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr7:2415106G>A	ENST00000360876.4	+	14	2028	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	EIF3B_ENST00000397011.2_Missense_Mutation_p.E658K	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TTCCGACGTCGAATGGGATCC	0.547																																																0													199	143	162					7																	2415106		2203	4300	6503	SO:0001583	missense	8662			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1972G>A	chr7.hg19:g.2415106G>A	ENSP00000354125:p.Glu658Lys			Missense_Mutation	SNP	ENST00000360876.4	hg19	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375384	0.61735	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.05513	3.43;3.43	5.46	5.46	0.80206	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.089506	0.85682	D	0.000000	T	0.15305	0.0369	M	0.86028	2.79	0.80722	D	1	P	0.41345	0.746	B	0.38264	0.269	T	0.02457	-1.1156	10	0.72032	D	0.01	-48.6025	18.9193	0.92519	0.0:0.0:1.0:0.0	.	658	P55884	EIF3B_HUMAN	K	658;658;658;582	ENSP00000354125:E658K;ENSP00000380206:E658K	ENSP00000316638:E658K	E	+	1	0	EIF3B	2381632	1.000000	0.71417	0.944000	0.38274	0.019000	0.09904	9.670000	0.98625	2.571000	0.86741	0.655000	0.94253	GAA		0.547	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			A	2415106	G	A	2415106	3	1	28	1	0	0	0	0	1	0	0	0	5015	1059	37	1	2026	1	EIF3B	7	2415106	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10		2415106	156723557	25	1994											
DYNC1I1	1780	hgsc.bcm.edu	37	7	95439731	95439731	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr7:95439731G>A	ENST00000324972.6	+	3	329	c.136G>A	c.(136-138)Gtt>Att	p.V46I	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V46I|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V46I|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V46I|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V46I|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.V46I|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V46I	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	46	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GAAAGAACCCGTTCAGGACGA	0.433																																																0													80	79	80					7																	95439731		2202	4300	6502	SO:0001583	missense	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.136G>A	chr7.hg19:g.95439731G>A	ENSP00000320130:p.Val46Ile		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	hg19	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538558	0.27475	.	.	ENSG00000158560	ENST00000447467;ENST00000524053;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	T;T;T;T;T;T;T	0.73897	-0.59;2.65;-0.79;-0.59;-0.56;2.65;-0.59	4.76	2.96	0.34315	.	0.420143	0.24601	N	0.037126	T	0.52338	0.1728	N	0.14661	0.345	0.22933	N	0.998548	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.001	B;B;B;B;B	0.08055	0.0;0.002;0.001;0.001;0.003	T	0.31138	-0.9954	10	0.19590	T	0.45	-13.6404	7.9351	0.29925	0.3129:0.0:0.6871:0.0	.	46;46;46;46;46	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	I	46	ENSP00000392337:V46I;ENSP00000320130:V46I;ENSP00000438377:V46I;ENSP00000398118:V46I;ENSP00000352348:V46I;ENSP00000428273:V46I;ENSP00000412444:V46I	ENSP00000320130:V46I	V	+	1	0	DYNC1I1	95277667	0.998000	0.40836	0.205000	0.23548	0.885000	0.51271	3.060000	0.49955	0.731000	0.32448	0.655000	0.94253	GTT		0.433	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		A	95439731	G	A	95439731	3	1	28	1	0	0	0	0	1	0	0	0	4844	1145	40	1	142	1	DYNC1I1	7	95439731	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	93024625	95439731	63698932	26	1995											
NOBOX	135935	hgsc.bcm.edu	37	7	144096177	144096177	+	Silent	SNP	G	G	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr7:144096177G>A	ENST00000467773.1	-	8	1334	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	NOBOX_ENST00000483238.1_Silent_p.P413P|NOBOX_ENST00000223140.5_Silent_p.P328P	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	445	Pro-rich.				oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCACAGGTGGGGGGCTGAAGA	0.632																																																0													11	12	11					7																	144096177		1824	3970	5794	SO:0001819	synonymous_variant	135935					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1335C>T	chr7.hg19:g.144096177G>A			A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	hg19																																																																																					0.632	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		A	144096177	G	A	144096177	2	1	28	1	0	0	0	0	0	0	0	1	10514	1219	43	2		2	NOBOX	7	144096177	Silent	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	48656446	144096177	15042486	27	1996											
TCEB1	6921	hgsc.bcm.edu	37	8	74858968	74858968	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr8:74858968T>C	ENST00000522337.1	-	5	555	c.236A>G	c.(235-237)tAc>tGc	p.Y79C	TCEB1_ENST00000523815.1_Missense_Mutation_p.Y79C|TCEB1_ENST00000520242.1_Missense_Mutation_p.Y79C|TCEB1_ENST00000519487.1_Missense_Mutation_p.Y79C|TCEB1_ENST00000518127.1_Missense_Mutation_p.Y79C|TCEB1_ENST00000284811.8_Missense_Mutation_p.Y79C|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000520210.1_Missense_Mutation_p.Y63C			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	79					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.Y79F(1)|p.Y79L(1)		endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GCGAACCTTGTACGTAAAATA	0.413																																																2	Substitution - Missense(2)	kidney(2)											95	77	83					8																	74858968		2203	4300	6503	SO:0001583	missense	6921			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.236A>G	chr8.hg19:g.74858968T>C	ENSP00000429906:p.Tyr79Cys		E5RGD9|Q567Q6	Missense_Mutation	SNP	ENST00000522337.1	hg19	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889194	0.52014	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.66	5.66	0.87406	BTB/POZ fold (2);	0.000000	0.48286	D	0.000198	T	0.64778	0.2629	H	0.94264	3.515	0.80722	D	1	B	0.26195	0.144	B	0.31614	0.133	T	0.70230	-0.4929	10	0.87932	D	0	-1.9844	15.8997	0.79362	0.0:0.0:0.0:1.0	.	79	Q15369	ELOC_HUMAN	C	79;63;79;79;79;79;79;79	ENSP00000428334:Y79C;ENSP00000430224:Y63C;ENSP00000428171:Y79C;ENSP00000429596:Y79C;ENSP00000284811:Y79C;ENSP00000429906:Y79C;ENSP00000428074:Y79C;ENSP00000429789:Y79C	ENSP00000284811:Y79C	Y	-	2	0	TCEB1	75021522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.513000	0.81739	2.157000	0.67596	0.482000	0.46254	TAC		0.413	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		C	74858968	T	C	74858968	3	2	28	1	0	0	0	0	1	0	0	0	15684	1638	57	3	106	3	TCEB1	8	74858968	Missense_Mutation	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10		74858968	71505054	28	1997											
PKHD1L1	93035	hgsc.bcm.edu	37	8	110439255	110439255	+	Missense_Mutation	SNP	C	C	T	rs35375999	byFrequency	TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr8:110439255C>T	ENST00000378402.5	+	25	2974	c.2870C>T	c.(2869-2871)gCa>gTa	p.A957V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	957			A -> E (in dbSNP:rs35375999).		immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGTCAGCTGCAGATCTGCAG	0.557										HNSCC(38;0.096)																																						0													74	76	76					8																	110439255		1980	4166	6146	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2870C>T	chr8.hg19:g.110439255C>T	ENSP00000367655:p.Ala957Val		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	hg19	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071060	0.36566	.	.	ENSG00000205038	ENST00000378402	D	0.85861	-2.04	5.45	1.06	0.20224	.	0.770532	0.12118	N	0.497923	T	0.71108	0.3301	N	0.25426	0.745	0.23823	N	0.996742	B	0.09022	0.002	B	0.08055	0.003	T	0.52305	-0.8593	10	0.13108	T	0.6	.	6.1929	0.20534	0.0:0.5062:0.0:0.4938	.	957	Q86WI1	PKHL1_HUMAN	V	957	ENSP00000367655:A957V	ENSP00000367655:A957V	A	+	2	0	PKHD1L1	110508431	0.004000	0.15560	0.997000	0.53966	0.897000	0.52465	0.192000	0.17096	0.279000	0.22186	-0.225000	0.12378	GCA		0.557	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110439255	C	T	110439255	3	4	28	1	0	0	0	0	1	0	0	0	11974	710	25	2	2968	2	PKHD1L1	8	110439255	Missense_Mutation	SNP	C	TCGA-5P-A9JV-01A-12D-A42J-10	35580287	110439255	35924767	29	1998											
AKR1C1	1645	hgsc.bcm.edu	37	10	5008141	5008141	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr10:5008141G>T	ENST00000380872.4	+	2	312	c.120G>T	c.(118-120)ttG>ttT	p.L40F	AKR1C1_ENST00000434459.2_Missense_Mutation_p.L40F|AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000380859.1_Missense_Mutation_p.L42F	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	40					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	CCACCAAATTGGCAATTGAAG	0.448																																					Colon(130;2054 2316 13360 15380)											0													92	84	87					10																	5008141		2203	4300	6503	SO:0001583	missense	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.120G>T	chr10.hg19:g.5008141G>T	ENSP00000370254:p.Leu40Phe		P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	hg19	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.290978	0.01375	.	.	ENSG00000187134	ENST00000434459;ENST00000380872;ENST00000380859	T;T;T	0.25414	1.8;1.8;1.8	2.48	-3.93	0.04143	NADP-dependent oxidoreductase domain (3);	1.106620	0.07086	N	0.837917	T	0.11879	0.0289	N	0.16478	0.41	0.18873	N	0.999983	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.21360	0.034;0.004;0.009	T	0.36529	-0.9744	10	0.12766	T	0.61	.	4.7478	0.13045	0.248:0.0:0.5559:0.1961	.	40;40;40	B4E0M1;Q2XPP3;Q04828	.;.;AK1C1_HUMAN	F	40;40;42	ENSP00000412248:L40F;ENSP00000370254:L40F;ENSP00000370240:L42F	ENSP00000370240:L42F	L	+	3	2	AKR1C1	4998141	0.002000	0.14202	0.003000	0.11579	0.009000	0.06853	-0.301000	0.08232	-0.700000	0.05070	0.305000	0.20034	TTG		0.448	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		T	5008141	G	T	5008141	3	4	28	1	0	0	0	0	1	0	0	0	469	1339	47	4	126	4	AKR1C1	10	5008141	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10		5008141	130526606	30	1999											
UPF2	26019	hgsc.bcm.edu	37	10	11985132	11985132	+	Silent	SNP	T	T	C			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr10:11985132T>C	ENST00000356352.2	-	16	3683	c.3210A>G	c.(3208-3210)gaA>gaG	p.E1070E	UPF2_ENST00000357604.5_Silent_p.E1070E|UPF2_ENST00000397053.2_Silent_p.E1070E			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1070	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTCCTCCTCTTCTTCTCCCT	0.328																																																0													159	142	147					10																	11985132		2202	4300	6502	SO:0001819	synonymous_variant	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3210A>G	chr10.hg19:g.11985132T>C			A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	hg19	CCDS7086.1																																																																																				0.328	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			C	11985132	T	C	11985132	2	2	28	1	0	0	0	0	0	0	0	1	17009	1606	56	3		3	UPF2	10	11985132	Silent	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10	6976991	11985132	123549615	31	2000											
MARCH8	220972	hgsc.bcm.edu	37	10	45953921	45953921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr10:45953921delA	ENST00000319836.3	-	7	1391	c.642delT	c.(640-642)tttfs	p.F214fs	MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Frame_Shift_Del_p.F214fs|MARCH8_ENST00000453424.2_Frame_Shift_Del_p.F496fs|MARCH8_ENST00000395771.3_Frame_Shift_Del_p.F214fs	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	214					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GAACATACATAAAAAGAAGTC	0.408																																					NSCLC(102;658 1594 2173 16344 34808)											0													84	86	85					10																	45953921		2203	4300	6503	SO:0001589	frameshift_variant	220972			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	23356	protein-coding gene	gene with protein product		613335	"c-mir, cellular modulator of immune recognition", "membrane-associated ring finger (C3HC4) 8"	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.642delT	chr10.hg19:g.45953921delA	ENSP00000317087:p.Phe214fs		B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Frame_Shift_Del	DEL	ENST00000319836.3	hg19	CCDS7213.1																																																																																				0.408	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		-	45953921	A	-	45953921	7	5	28	1	0	1	0	1	0	0	0	0	9309	359	13	0	237	0	MARCH8	10	45953921	Frame_Shift_Del	DEL	A	TCGA-5P-A9JV-01A-12D-A42J-10	33968789	45953921	89580826	32	2001											
SLC16A9	220963	hgsc.bcm.edu	37	10	61413535	61413535	+	Missense_Mutation	SNP	A	A	G	rs372708622		TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr10:61413535A>G	ENST00000395348.3	-	5	1885	c.1249T>C	c.(1249-1251)Tat>Cat	p.Y417H	SLC16A9_ENST00000395347.1_Missense_Mutation_p.Y417H	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	417					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GTGGTCACATATGGAAAGATG	0.443																																																0								A	HIS/TYR	1,4405	2.1+/-5.4	0,1,2202	116	108	111		1249	5.2	1	10		111	0,8600		0,0,4300	no	missense	SLC16A9	NM_194298.2	83	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	417/510	61413535	1,13005	2203	4300	6503	SO:0001583	missense	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1249T>C	chr10.hg19:g.61413535A>G	ENSP00000378757:p.Tyr417His		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	hg19	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109161	0.77096	2.27E-4	0.0	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.58940	0.3;0.3	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.107752	0.64402	D	0.000003	T	0.72630	0.3484	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70407	-0.4880	10	0.26408	T	0.33	.	15.0446	0.71816	1.0:0.0:0.0:0.0	.	417	Q7RTY1	MOT9_HUMAN	H	417	ENSP00000378757:Y417H;ENSP00000378756:Y417H	ENSP00000378756:Y417H	Y	-	1	0	SLC16A9	61083541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.956000	0.56807	0.482000	0.46254	TAT		0.443	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		G	61413535	A	G	61413535	3	3	28	1	0	0	0	0	1	0	0	0	14421	449	16	3	288	3	SLC16A9	10	61413535	Missense_Mutation	SNP	A	TCGA-5P-A9JV-01A-12D-A42J-10	15459614	61413535	74121212	33	2002											
WDR11	55717	hgsc.bcm.edu	37	10	122650370	122650370	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr10:122650370G>T	ENST00000263461.6	+	19	2732	c.2486G>T	c.(2485-2487)tGc>tTc	p.C829F	WDR11_ENST00000604509.1_Intron	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AAGTCTGCGTGCTTTAGAATG	0.433																																																0													206	192	197					10																	122650370		2203	4300	6503	SO:0001583	missense	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2486G>T	chr10.hg19:g.122650370G>T	ENSP00000263461:p.Cys829Phe		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	hg19	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568063	0.86439	.	.	ENSG00000120008	ENST00000263461	D	0.90788	-2.73	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);	0.094012	0.85682	D	0.000000	D	0.82889	0.5135	N	0.22421	0.69	0.58432	D	0.999999	B;B;P;B	0.47604	0.41;0.139;0.898;0.167	B;B;B;B	0.37550	0.205;0.016;0.253;0.034	T	0.81854	-0.0741	10	0.10636	T	0.68	-13.3	19.4182	0.94710	0.0:0.0:1.0:0.0	.	829;829;120;358	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	F	829	ENSP00000263461:C829F	ENSP00000263461:C829F	C	+	2	0	WDR11	122640360	1.000000	0.71417	0.025000	0.17156	0.888000	0.51559	9.296000	0.96104	2.575000	0.86900	0.655000	0.94253	TGC		0.433	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			T	122650370	G	T	122650370	3	4	28	1	0	0	0	0	1	0	0	0	17278	1319	46	4	2560	4	WDR11	10	122650370	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	61236835	122650370	12884377	34	2003											
OR51E2	81285	hgsc.bcm.edu	37	11	4703537	4703537	+	Silent	SNP	G	G	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr11:4703537G>T	ENST00000396950.3	-	2	644	c.405C>A	c.(403-405)ctC>ctA	p.L135L		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	135					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTGTATTGTTGAGCACTGCAG	0.557																																																0													59	49	52					11																	4703537		2201	4298	6499	SO:0001819	synonymous_variant	81285			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.405C>A	chr11.hg19:g.4703537G>T			B2RA63|Q6IF94	Silent	SNP	ENST00000396950.3	hg19	CCDS7751.1																																																																																				0.557	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		T	4703537	G	T	4703537	2	4	28	1	0	0	0	0	0	0	0	1	11097	1277	45	4		4	OR51E2	11	4703537	Silent	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10		4703537	130302979	35	2004											
CKAP5	9793	hgsc.bcm.edu	37	11	46799725	46799725	+	Silent	SNP	G	G	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr11:46799725G>T	ENST00000529230.1	-	22	2758	c.2712C>A	c.(2710-2712)gcC>gcA	p.A904A	CKAP5_ENST00000354558.3_Silent_p.A904A|CKAP5_ENST00000312055.5_Silent_p.A904A|CKAP5_ENST00000415402.1_Silent_p.A904A			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	904					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GACCCTTCAAGGCAGTTGGAA	0.403																																					Ovarian(4;85 273 2202 4844 13323)											0													145	152	149					11																	46799725		2201	4299	6500	SO:0001819	synonymous_variant	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2712C>A	chr11.hg19:g.46799725G>T			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	hg19	CCDS31477.1																																																																																				0.403	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		T	46799725	G	T	46799725	2	4	28	1	0	0	0	0	0	0	0	1	3447	987	35	4		4	CKAP5	11	46799725	Silent	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	42096188	46799725	88206791	36	2005											
RPS6KB2	6199	hgsc.bcm.edu	37	11	67201948	67201948	+	Missense_Mutation	SNP	C	C	G	rs369245928		TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr11:67201948C>G	ENST00000312629.5	+	13	1193	c.1148C>G	c.(1147-1149)gCc>gGc	p.A383G	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	383	AGC-kinase C-terminal.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCCAACCAGGCCTTCCTGGTG	0.647																																																0													24	28	27					11																	67201948		2080	4189	6269	SO:0001583	missense	6199			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1148C>G	chr11.hg19:g.67201948C>G	ENSP00000308413:p.Ala383Gly		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	hg19	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119441	0.37436	.	.	ENSG00000175634	ENST00000312629	T	0.58060	0.36	4.52	4.52	0.55395	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50086	0.1595	M	0.62088	1.915	0.80722	D	1	B;B	0.15719	0.014;0.005	B;B	0.22601	0.04;0.012	T	0.54622	-0.8266	10	0.87932	D	0	.	10.6873	0.45850	0.0:0.9105:0.0:0.0895	.	383;383	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	G	383	ENSP00000308413:A383G	ENSP00000308413:A383G	A	+	2	0	RPS6KB2	66958524	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	1.875000	0.39578	2.339000	0.79563	0.313000	0.20887	GCC		0.647	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		G	67201948	C	G	67201948	3	3	28	1	0	0	0	0	1	0	0	0	13663	739	26	4	1198	4	RPS6KB2	11	67201948	Missense_Mutation	SNP	C	TCGA-5P-A9JV-01A-12D-A42J-10	20402223	67201948	67804568	37	2006											
CARD17	440068	hgsc.bcm.edu	37	11	104971430	104971430	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr11:104971430T>A	ENST00000375707.1	-	2	100	c.84A>T	c.(82-84)gaA>gaT	p.E28D	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	28	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						TCTCCAATAATTCACCCAGTA	0.438																																																0													198	187	191					11																	104971430		2202	4299	6501	SO:0001583	missense	440068				CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"Inhibitory CARD"	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.84A>T	chr11.hg19:g.104971430T>A	ENSP00000364859:p.Glu28Asp			Missense_Mutation	SNP	ENST00000375707.1	hg19	CCDS31662.1	.	.	.	.	.	.	.	.	.	.	.	4.355	0.065284	0.08388	.	.	ENSG00000255221	ENST00000375707	T	0.20069	2.1	2.92	-3.18	0.05186	DEATH-like (2);Caspase Recruitment (3);	.	.	.	.	T	0.12390	0.0301	N	0.24115	0.695	0.09310	N	1	B	0.29481	0.245	B	0.44044	0.439	T	0.40961	-0.9535	9	0.02654	T	1	.	0.3399	0.00332	0.3708:0.1307:0.1905:0.3079	.	28	Q5XLA6	CAR17_HUMAN	D	28	ENSP00000364859:E28D	ENSP00000364859:E28D	E	-	3	2	CARD17	104476640	0.000000	0.05858	0.026000	0.17262	0.040000	0.13550	-1.024000	0.03603	-0.391000	0.07763	0.418000	0.28097	GAA		0.438	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		A	104971430	T	A	104971430	3	1	28	1	0	0	0	0	1	0	0	0	2650	1490	52	5	256	5	CARD17	11	104971430	Missense_Mutation	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10	37769482	104971430	30035086	38	2007											
ARF3	377	hgsc.bcm.edu	37	12	49332835	49332835	+	Silent	SNP	G	G	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr12:49332835G>A	ENST00000256682.4	-	5	775	c.441C>T	c.(439-441)tcC>tcT	p.S147S	ARF3_ENST00000541967.1_5'Flank|ARF3_ENST00000541959.1_Silent_p.S147S|AC073610.5_ENST00000537495.1_Silent_p.S22S|RP11-302B13.5_ENST00000398092.4_Intron|ARF3_ENST00000447318.2_Silent_p.S110S	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	147					GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						GGTGACGAAGGGAATGCAGGC	0.537																																					Pancreas(189;1862 2134 4419 30933 49364)											0													145	124	131					12																	49332835		2203	4300	6503	SO:0001819	synonymous_variant	377			M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"ADP-ribosylation factors"	654	protein-coding gene	gene with protein product	"small GTP binding protein"	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.441C>T	chr12.hg19:g.49332835G>A			A8K6G8|B7ZB63|P16587	Silent	SNP	ENST00000256682.4	hg19	CCDS8774.1																																																																																				0.537	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2	NM_001659		A	49332835	G	A	49332835	2	1	28	1	0	0	0	0	0	0	0	1	845	1219	43	2		2	ARF3	12	49332835	Silent	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10		49332835	84519060	39	2008											
VTI1B	10490	hgsc.bcm.edu	37	14	68126460	68126460	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr14:68126460C>A	ENST00000554659.1	-	3	695	c.354G>T	c.(352-354)gaG>gaT	p.E118D	RP11-1012A1.4_ENST00000554493.1_5'Flank|5S_rRNA_ENST00000607639.1_RNA	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	118					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TATGCTCATTCTCTACAGCAT	0.408																																																0													84	74	78					14																	68126460		2203	4300	6503	SO:0001583	missense	10490			AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.354G>T	chr14.hg19:g.68126460C>A	ENSP00000450731:p.Glu118Asp		O43547|Q96J28	Missense_Mutation	SNP	ENST00000554659.1	hg19	CCDS9786.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.08|12.08	1.829916|1.829916	0.32329|0.32329	.|.	.|.	ENSG00000100568|ENSG00000100568	ENST00000554659|ENST00000554636;ENST00000556461	.|.	.|.	.|.	5.12|5.12	0.197|0.197	0.15164|0.15164	.|.	0.239820|0.239820	0.44285|0.44285	D|D	0.000468|0.000468	T|.	0.30386|.	0.0763|.	N|N	0.08118|0.08118	0|0	0.44104|0.44104	D|D	0.996874|0.996874	P;P|.	0.52463|.	0.953;0.919|.	P;P|.	0.47603|.	0.551;0.45|.	T|.	0.03344|.	-1.1046|.	9|.	0.15066|.	T|.	0.55|.	.|.	9.4955|9.4955	0.38986|0.38986	0.0:0.3897:0.0:0.6103|0.0:0.3897:0.0:0.6103	.|.	118;118|.	A8K6M4;Q9UEU0|.	.;VTI1B_HUMAN|.	D|X	118|17;35	.|.	ENSP00000216456:E118D|.	E|E	-|-	3|1	2|0	VTI1B|VTI1B	67196213|67196213	0.996000|0.996000	0.38824|0.38824	0.964000|0.964000	0.40570|0.40570	0.573000|0.573000	0.36030|0.36030	0.404000|0.404000	0.20999|0.20999	-0.060000|-0.060000	0.13132|0.13132	-0.244000|-0.244000	0.11960|0.11960	GAG|GAA		0.408	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2			A	68126460	C	A	68126460	3	1	28	1	0	0	0	0	1	0	0	0	17241	912	32	4	360	4	VTI1B	14	68126460	Missense_Mutation	SNP	C	TCGA-5P-A9JV-01A-12D-A42J-10		68126460	39223080	40	2009											
DCI	1632	hgsc.bcm.edu	37	16	2301546	2301546	+	Silent	SNP	G	G	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr16:2301546G>T	ENST00000301729.4	-	1	69	c.22C>A	c.(22-24)Cga>Aga	p.R8R	ECI1_ENST00000562238.1_Silent_p.R8R|ECI1_ENST00000570258.1_Intron|AC009065.1_ENST00000454671.1_5'Flank	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	8					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						GCCGGGACTCGCACAGAAGCC	0.736																																																0													3	5	5					16																	2301546		1966	3980	5946	SO:0001819	synonymous_variant	1632				CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"3,2 trans-enoyl-CoA isomerase"	600305	"dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)", "dodecenoyl-CoA isomerase"	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.22C>A	chr16.hg19:g.2301546G>T			A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Silent	SNP	ENST00000301729.4	hg19	CCDS10464.1																																																																																				0.736	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1			T	2301546	G	T	2301546	2	4	28	1	0	0	0	0	0	0	0	1	4291	1095	38	4		4	DCI	16	2301546	Silent	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10		2301546	88053207	41	2010											
PPL	5493	hgsc.bcm.edu	37	16	4935927	4935927	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr16:4935927T>G	ENST00000345988.2	-	22	2818	c.2729A>C	c.(2728-2730)gAg>gCg	p.E910A	PPL_ENST00000590782.2_Missense_Mutation_p.E908A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	910					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GACCTCGTTCTCCAGCTGCCG	0.577																																																0													81	85	84					16																	4935927		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2729A>C	chr16.hg19:g.4935927T>G	ENSP00000340510:p.Glu910Ala		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	hg19	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035131	0.75617	.	.	ENSG00000118898	ENST00000345988	T	0.55588	0.51	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	M	0.72118	2.19	0.58432	D	0.999999	D	0.69078	0.997	D	0.77004	0.989	T	0.74990	-0.3475	10	0.72032	D	0.01	.	14.8296	0.70137	0.0:0.0:0.0:1.0	.	910	O60437	PEPL_HUMAN	A	910	ENSP00000340510:E910A	ENSP00000340510:E910A	E	-	2	0	PPL	4875928	1.000000	0.71417	0.994000	0.49952	0.575000	0.36095	8.003000	0.88520	1.918000	0.55548	0.374000	0.22700	GAG		0.577	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		G	4935927	T	G	4935927	3	3	28	1	0	0	0	0	1	0	0	0	12339	1551	54	5	2545	5	PPL	16	4935927	Missense_Mutation	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10	2634381	4935927	85418826	42	2011											
CACNG3	10368	hgsc.bcm.edu	37	16	24372986	24372986	+	Silent	SNP	C	C	T	rs148951012		TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr16:24372986C>T	ENST00000005284.3	+	4	1952	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	250					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGTCCCCCATCAGCAAAGGCT	0.587																																																0										0,4394		0,0,2197	96	101	100		750	4	1	16	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACNG3	NM_006539.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		250/316	24372986	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.750C>T	chr16.hg19:g.24372986C>T				Silent	SNP	ENST00000005284.3	hg19	CCDS10620.1																																																																																				0.587	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		T	24372986	C	T	24372986	2	4	28	1	0	0	0	0	0	0	0	1	2560	816	29	2		2	CACNG3	16	24372986	Silent	SNP	C	TCGA-5P-A9JV-01A-12D-A42J-10	19437059	24372986	65981767	43	2012											
HES7	84667	hgsc.bcm.edu	37	17	8024974	8024974	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr17:8024974G>A	ENST00000317814.4	-	4	592	c.593C>T	c.(592-594)cCg>cTg	p.P198L	ALOXE3_ENST00000318227.3_5'Flank|HES7_ENST00000541682.2_Missense_Mutation_p.P203L			Q9BYE0	HES7_HUMAN	hes family bHLH transcription factor 7	198	Pro-rich.				mesoderm development (GO:0007498)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|post-anal tail morphogenesis (GO:0036342)|regulation of somitogenesis (GO:0014807)|rhythmic process (GO:0048511)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)										CGGTGGCGGCGGCAGCAGTCC	0.761																																																0													1	1	1					17																	8024974		690	1880	2570	SO:0001583	missense	84667			AB049064	CCDS42258.1, CCDS54085.1	17p13.1	2013-10-17	2013-10-17			ENSG00000179111		"Basic helix-loop-helix proteins"	15977	protein-coding gene	gene with protein product	"bHLH factor Hes7"	608059	"hairy and enhancer of split 7 (Drosophila)"			11260262	Standard	NM_032580		Approved	bHLHb37	uc002gkb.2	Q9BYE0		ENST00000317814.4:c.593C>T	chr17.hg19:g.8024974G>A	ENSP00000314774:p.Pro198Leu		F8VPC9	Missense_Mutation	SNP	ENST00000317814.4	hg19	CCDS42258.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192157	0.58017	.	.	ENSG00000179111	ENST00000541682;ENST00000317814	T;T	0.79454	-1.27;-1.16	5.1	4.1	0.47936	.	1.346370	0.05201	N	0.505001	T	0.79913	0.4528	N	0.19112	0.55	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.69824	0.925;0.966	T	0.66176	-0.5989	10	0.20519	T	0.43	-7.0736	10.6303	0.45532	0.0:0.0:0.8077:0.1923	.	198;203	Q9BYE0;F8VPC9	HES7_HUMAN;.	L	203;198	ENSP00000446205:P203L;ENSP00000314774:P198L	ENSP00000314774:P198L	P	-	2	0	HES7	7965699	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	1.887000	0.39698	1.075000	0.40932	0.460000	0.39030	CCG		0.761	HES7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441479.1	NM_032580		A	8024974	G	A	8024974	3	1	28	1	0	0	0	0	1	0	0	0	7073	1116	39	1	88	1	HES7	17	8024974	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10		8024974	73170236	44	2013											
MYH3	4621	hgsc.bcm.edu	37	17	10538254	10538254	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr17:10538254T>C	ENST00000583535.1	-	31	4346	c.4259A>G	c.(4258-4260)cAg>cGg	p.Q1420R	MYH3_ENST00000226209.7_Missense_Mutation_p.Q1420R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1420					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGCAGCCTCTGCTTGGTCTT	0.483																																																0													121	111	114					17																	10538254		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4259A>G	chr17.hg19:g.10538254T>C	ENSP00000464317:p.Gln1420Arg		Q15492	Missense_Mutation	SNP	ENST00000583535.1	hg19	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843566	0.91197	.	.	ENSG00000109063	ENST00000226209	T	0.77750	-1.12	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.87075	0.6087	M	0.85777	2.775	0.45056	D	0.998071	D	0.52996	0.957	P	0.57468	0.821	D	0.88963	0.3395	9	0.59425	D	0.04	.	15.4719	0.75446	0.0:0.0:0.0:1.0	.	1420	P11055	MYH3_HUMAN	R	1420	ENSP00000226209:Q1420R	ENSP00000226209:Q1420R	Q	-	2	0	MYH3	10478979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.291000	0.59025	2.104000	0.64026	0.533000	0.62120	CAG		0.483	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		C	10538254	T	C	10538254	3	2	28	1	0	0	0	0	1	0	0	0	10038	1580	55	3	1607	3	MYH3	17	10538254	Missense_Mutation	SNP	T	TCGA-5P-A9JV-01A-12D-A42J-10	2513280	10538254	70656956	45	2014											
RAI1	10743	hgsc.bcm.edu	37	17	17701402	17701402	+	Nonsense_Mutation	SNP	A	A	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr17:17701402A>T	ENST00000353383.1	+	3	5609	c.5140A>T	c.(5140-5142)Aaa>Taa	p.K1714*	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1714					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTGCCTCCCCAAAAAGAAGCC	0.577																																																0													53	57	56					17																	17701402		2203	4300	6503	SO:0001587	stop_gained	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5140A>T	chr17.hg19:g.17701402A>T	ENSP00000323074:p.Lys1714*		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Nonsense_Mutation	SNP	ENST00000353383.1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	48	13.919646	0.99770	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	.	.	.	5.09	4.01	0.46588	.	0.073600	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1809	0.54211	0.8568:0.1432:0.0:0.0	.	.	.	.	X	1714;1714;1602	.	ENSP00000322928:K1602X	K	+	1	0	RAI1	17642127	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	4.724000	0.61972	0.794000	0.33899	-0.375000	0.07067	AAA		0.577	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		T	17701402	A	T	17701402	4	4	28	1	0	0	0	0	0	1	0	0	13013	131	5	5	5142	5	RAI1	17	17701402	Nonsense_Mutation	SNP	A	TCGA-5P-A9JV-01A-12D-A42J-10	7163148	17701402	63493808	46	2015											
CDK5RAP3	80279	hgsc.bcm.edu	37	17	46048728	46048728	+	Splice_Site	SNP	G	G	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr17:46048728G>T	ENST00000338399.4	+	2	113	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Splice_Site_p.D28Y	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	3					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TTCCCGCCAGGACCATCAGCA	0.682																																																0													27	31	30					17																	46048728		2089	4198	6287	SO:0001630	splice_region_variant	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.7-1G>T	chr17.hg19:g.46048728G>T			B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	hg19	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316083	0.81469	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.53640	0.61;0.61	5.0	5.0	0.66597	.	0.051123	0.85682	D	0.000000	T	0.57431	0.2053	M	0.71036	2.16	0.80722	D	1	P	0.45474	0.859	P	0.50440	0.641	T	0.58634	-0.7602	9	.	.	.	4.6964	13.7672	0.63002	0.0:0.0:1.0:0.0	.	3	Q96JB5	CK5P3_HUMAN	Y	28;3	ENSP00000438886:D28Y;ENSP00000344683:D3Y	.	D	+	1	0	CDK5RAP3	43403727	1.000000	0.71417	0.999000	0.59377	0.780000	0.44128	6.238000	0.72350	2.337000	0.79520	0.561000	0.74099	GAC		0.682	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	Missense_Mutation	T	46048728	G	T	46048728	5	4	28	1	0	0	0	0	0	0	1	0	3149	1188	41	4	13	4	CDK5RAP3	17	46048728	Splice_Site	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	28347326	46048728	35146482	47	2016											
CD7	924	hgsc.bcm.edu	37	17	80274160	80274160	+	Missense_Mutation	SNP	C	C	T	rs200504177		TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr17:80274160C>T	ENST00000312648.3	-	3	629	c.523G>A	c.(523-525)Gca>Aca	p.A175T	CD7_ENST00000584284.1_Missense_Mutation_p.A175T|CD7_ENST00000578509.1_Missense_Mutation_p.A75T|CD7_ENST00000583376.1_Missense_Mutation_p.A75T	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	175	4 X 9 AA tandem repeats, potential spacer function.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GCAGAGGCTGCTGGCGGGTCA	0.716																																					Pancreas(45;804 1068 19702 28207 28798)											0													11	13	13					17																	80274160		2157	4241	6398	SO:0001583	missense	924			X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1695	protein-coding gene	gene with protein product	"p41 protein", "T-cell antigen CD7", "T-cell leukemia antigen"	186820	"CD7 antigen (p41)"			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.523G>A	chr17.hg19:g.80274160C>T	ENSP00000312027:p.Ala175Thr			Missense_Mutation	SNP	ENST00000312648.3	hg19	CCDS11807.1	.	.	.	.	.	.	.	.	.	.	c	7.421	0.636759	0.14386	.	.	ENSG00000173762	ENST00000312648	T	0.23552	1.9	2.36	-1.28	0.09318	.	.	.	.	.	T	0.10337	0.0253	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35992	-0.9766	9	0.19590	T	0.45	3.6689	5.816	0.18492	0.0:0.4734:0.0:0.5266	.	175;175	Q29VG3;P09564	.;CD7_HUMAN	T	175	ENSP00000312027:A175T	ENSP00000312027:A175T	A	-	1	0	CD7	77867449	0.227000	0.23707	0.003000	0.11579	0.013000	0.08279	0.220000	0.17660	-0.330000	0.08514	-1.031000	0.02408	GCA		0.716	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137		T	80274160	C	T	80274160	3	4	28	1	0	0	0	0	1	0	0	0	3034	797	28	2	207	2	CD7	17	80274160	Missense_Mutation	SNP	C	TCGA-5P-A9JV-01A-12D-A42J-10	34225432	80274160	921050	48	2017	20	2									
CD7	924	hgsc.bcm.edu	37	17	80274162	80274162	+	Missense_Mutation	SNP	G	G	T	rs201027731|rs555569626	byFrequency	TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr17:80274162G>T	ENST00000312648.3	-	3	627	c.521C>A	c.(520-522)cCa>cAa	p.P174Q	CD7_ENST00000584284.1_Missense_Mutation_p.P174Q|CD7_ENST00000578509.1_Missense_Mutation_p.P74Q|CD7_ENST00000583376.1_Missense_Mutation_p.P74Q	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	174	4 X 9 AA tandem repeats, potential spacer function.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			AGAGGCTGCTGGCGGGTCAGG	0.716																																					Pancreas(45;804 1068 19702 28207 28798)											0													11	14	13					17																	80274162		2162	4241	6403	SO:0001583	missense	924			X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1695	protein-coding gene	gene with protein product	"p41 protein", "T-cell antigen CD7", "T-cell leukemia antigen"	186820	"CD7 antigen (p41)"			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.521C>A	chr17.hg19:g.80274162G>T	ENSP00000312027:p.Pro174Gln			Missense_Mutation	SNP	ENST00000312648.3	hg19	CCDS11807.1	.	.	.	.	.	.	.	.	.	.	G	4.195	0.034900	0.08101	.	.	ENSG00000173762	ENST00000312648	T	0.19806	2.12	1.69	-3.31	0.04988	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	P;P	0.34724	0.465;0.465	B;B	0.30646	0.118;0.118	T	0.36601	-0.9741	9	0.16896	T	0.51	-2.5328	6.7819	0.23650	0.3361:0.0:0.6639:0.0	.	174;174	Q29VG3;P09564	.;CD7_HUMAN	Q	174	ENSP00000312027:P174Q	ENSP00000312027:P174Q	P	-	2	0	CD7	77867451	0.791000	0.28800	0.003000	0.11579	0.009000	0.06853	0.125000	0.15749	-0.861000	0.04094	0.306000	0.20318	CCA		0.716	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137		T	80274162	G	T	80274162	3	4	28	1	0	0	0	0	1	0	0	0	3034	1348	47	4	209	4	CD7	17	80274162	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	2	80274162	921048	49	2018	20	2									
MAP2K7	5609	hgsc.bcm.edu	37	19	7975205	7975205	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr19:7975205G>T	ENST00000397979.3	+	4	448	c.394G>T	c.(394-396)Ggc>Tgc	p.G132C	MAP2K7_ENST00000545011.1_Missense_Mutation_p.G174C|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Missense_Mutation_p.G148C|MAP2K7_ENST00000397981.3_Missense_Mutation_p.G132C	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CGGCACCTGCGGCCAGGTGTG	0.667																																																0													32	39	37					19																	7975205		2033	4174	6207	SO:0001583	missense	5609			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.394G>T	chr19.hg19:g.7975205G>T	ENSP00000381066:p.Gly132Cys		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	hg19	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016907	0.93404	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94345	0.8182	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96653	0.9483	10	0.87932	D	0	-12.8954	16.4609	0.84044	0.0:0.0:1.0:0.0	.	132;132	O14733-4;O14733	.;MP2K7_HUMAN	C	132;148;174;148;132	ENSP00000381068:G132C;ENSP00000381070:G148C;ENSP00000443946:G174C;ENSP00000381066:G132C	ENSP00000381066:G132C	G	+	1	0	MAP2K7	7881205	1.000000	0.71417	0.995000	0.50966	0.918000	0.54935	9.407000	0.97325	2.502000	0.84385	0.561000	0.74099	GGC		0.667	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			T	7975205	G	T	7975205	3	4	28	1	0	0	0	0	1	0	0	0	9244	1116	39	4	408	4	MAP2K7	19	7975205	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10		7975205	51153778	50	2019											
MUC16	94025	hgsc.bcm.edu	37	19	9045908	9045908	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr19:9045908G>C	ENST00000397910.4	-	5	35926	c.35723C>G	c.(35722-35724)aCa>aGa	p.T11908R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11910	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTATCAGTTGTTATAGAGGC	0.517																																																0													99	94	95					19																	9045908		1901	4127	6028	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35723C>G	chr19.hg19:g.9045908G>C	ENSP00000381008:p.Thr11908Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	6.583	0.475972	0.12521	.	.	ENSG00000181143	ENST00000397910	T	0.02258	4.37	3.79	1.67	0.24075	.	.	.	.	.	T	0.04588	0.0125	N	0.24115	0.695	.	.	.	D	0.76494	0.999	D	0.72075	0.976	T	0.38415	-0.9662	8	0.87932	D	0	.	5.8956	0.18937	0.2331:0.0:0.7669:0.0	.	11908	B5ME49	.	R	11908	ENSP00000381008:T11908R	ENSP00000381008:T11908R	T	-	2	0	MUC16	8906908	0.019000	0.18553	0.002000	0.10522	0.008000	0.06430	1.589000	0.36644	0.584000	0.29591	0.555000	0.69702	ACA		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9045908	G	C	9045908	3	2	28	1	0	0	0	0	1	0	0	0	9975	1377	48	4	8120	4	MUC16	19	9045908	Missense_Mutation	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10	1070703	9045908	50083075	51	2020											
PRKCG	5582	hgsc.bcm.edu	37	19	54385763	54385763	+	Silent	SNP	C	C	T			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr19:54385763C>T	ENST00000263431.3	+	1	297	c.15C>T	c.(13-15)ggC>ggT	p.G5G	PRKCG_ENST00000536044.1_Silent_p.G5G|PRKCG_ENST00000540413.1_Silent_p.G5G|PRKCG_ENST00000542049.1_5'Flank	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	5					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CTGGTCTGGGCCCCGGCGTAG	0.617																																																0													71	85	80					19																	54385763		2200	4298	6498	SO:0001819	synonymous_variant	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.15C>T	chr19.hg19:g.54385763C>T			B7Z8Q0	Silent	SNP	ENST00000263431.3	hg19	CCDS12867.1																																																																																				0.617	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		T	54385763	C	T	54385763	2	4	28	1	0	0	0	0	0	0	0	1	12517	726	26	2		2	PRKCG	19	54385763	Silent	SNP	C	TCGA-5P-A9JV-01A-12D-A42J-10	45339855	54385763	4743220	52	2021											
TMC2	117532	hgsc.bcm.edu	37	20	2618194	2618194	+	Missense_Mutation	SNP	A	A	C	rs186977735		TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chr20:2618194A>C	ENST00000358864.1	+	19	2475	c.2460A>C	c.(2458-2460)aaA>aaC	p.K820N		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	820					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACACACCTAAAAGCAGCTCCA	0.438																																																0													154	145	148					20																	2618194		2203	4300	6503	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2460A>C	chr20.hg19:g.2618194A>C	ENSP00000351732:p.Lys820Asn		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	hg19	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	a	6.895	0.534564	0.13188	.	.	ENSG00000149488	ENST00000358864	T	0.64991	-0.13	4.88	-0.0212	0.13952	.	0.456200	0.22845	N	0.054932	T	0.42607	0.1210	L	0.44542	1.39	0.09310	N	1	B	0.25521	0.128	B	0.14023	0.01	T	0.13764	-1.0497	10	0.22109	T	0.4	-3.5909	3.5807	0.07952	0.5572:0.0:0.2825:0.1603	.	820	Q8TDI7	TMC2_HUMAN	N	820	ENSP00000351732:K820N	ENSP00000351732:K820N	K	+	3	2	TMC2	2566194	0.000000	0.05858	0.000000	0.03702	0.645000	0.38454	0.406000	0.21032	-0.110000	0.12022	-0.386000	0.06593	AAA		0.438	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			C	2618194	A	C	2618194	3	2	28	1	0	0	0	0	1	0	0	0	15990	11	1	5	2534	5	TMC2	20	2618194	Missense_Mutation	SNP	A	TCGA-5P-A9JV-01A-12D-A42J-10		2618194	60407326	53	2022											
FAM48B1	100130302	hgsc.bcm.edu	37	X	24382426	24382426	+	IGR	SNP	G	G	C			TCGA-5P-A9JV-01A-12D-A42J-10	TCGA-5P-A9JV-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	16f56910-a925-41a1-8bbc-d8554292616a	d2370805-678e-421c-83ac-49a5cec3cf51	g.chrX:24382426G>C								AC004552.1 (15403 upstream) : PDK3 (100911 downstream)																							tgctgctgctgctcctgctcc	0.627																																																0													2	2	2					X																	24382426		1073	2483	3556	SO:0001628	intergenic_variant	100130302																															chrX.hg19:g.24382426G>C				Missense_Mutation	SNP		hg19																																																																																				0	0.627									C	24382426	G	C	24382426	1	2	28	0	1	0	0	0	0	0	0	0	5575	1319	46	4		4	FAM48B1	23	24382426	IGR	SNP	G	TCGA-5P-A9JV-01A-12D-A42J-10		24382426	130888134	54	2023											
ATP13A2	23400	hgsc.bcm.edu	37	1	17328590	17328590	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr1:17328590A>C	ENST00000326735.8	-	8	677	c.644T>G	c.(643-645)aTt>aGt	p.I215S	ATP13A2_ENST00000452699.1_Missense_Mutation_p.I210S|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'Flank|ATP13A2_ENST00000341676.5_Missense_Mutation_p.I210S			Q9NQ11	AT132_HUMAN	ATPase type 13A2	215					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGGGCCGTAAATGGCCTTCCT	0.637																																																0													64	58	60					1																	17328590		2203	4300	6503	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.644T>G	chr1.hg19:g.17328590A>C	ENSP00000327214:p.Ile215Ser		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	hg19	CCDS175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.02|13.02	2.111352|2.111352	0.37242|0.37242	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000510069;ENST00000508222|ENST00000326735;ENST00000341676;ENST00000452699;ENST00000511957	.|D;D;D;D	.|0.88896	.|-2.44;-2.44;-2.44;-2.44	4.89|4.89	4.89|4.89	0.63831|0.63831	.|ATPase, P-type cation-transporter, N-terminal (1);	.|0.405796	.|0.29594	.|N	.|0.011708	D|D	0.90553|0.90553	0.7039|0.7039	M|M	0.90425|0.90425	3.115|3.115	0.23416|0.23416	N|N	0.997725|0.997725	.|P;P;P	.|0.44776	.|0.784;0.843;0.756	.|B;B;B	.|0.41723	.|0.326;0.365;0.288	D|D	0.86293|0.86293	0.1675|0.1675	5|10	.|0.51188	.|T	.|0.08	-5.3789|-5.3789	12.0045|12.0045	0.53251|0.53251	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|210;210;215	.|Q5JXY1;Q6S9Z9;Q9NQ11	.|.;.;AT132_HUMAN	Q|S	189;121|215;210;210;119	.|ENSP00000327214:I215S;ENSP00000341115:I210S;ENSP00000413307:I210S;ENSP00000427241:I119S	.|ENSP00000327214:I215S	H|I	-|-	3|2	2|0	ATP13A2|ATP13A2	17201177|17201177	1.000000|1.000000	0.71417|0.71417	0.085000|0.085000	0.20634|0.20634	0.421000|0.421000	0.31385|0.31385	6.664000|6.664000	0.74437|0.74437	2.065000|2.065000	0.61736|0.61736	0.459000|0.459000	0.35465|0.35465	CAT|ATT		0.637	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		C	17328590	A	C	17328590	3	2	29	1	0	0	0	0	1	0	0	0	1124	101	4	5	3222	5	ATP13A2	1	17328590	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10		17328590	231922031	1	2024											
RPA2	6118	hgsc.bcm.edu	37	1	28240584	28240584	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr1:28240584T>G	ENST00000373912.3	-	2	406	c.107A>C	c.(106-108)gAa>gCa	p.E36A	RPA2_ENST00000313433.7_Missense_Mutation_p.E124A|RPA2_ENST00000373909.3_Missense_Mutation_p.E44A	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	36					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TGATTTCTTTTCGGCTTGAGA	0.498								Direct reversal of damage;Nucleotide excision repair (NER)																																								0													62	71	68					1																	28240584		2203	4300	6503	SO:0001583	missense	6118			BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"replication protein A2 (32kD)"			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.107A>C	chr1.hg19:g.28240584T>G	ENSP00000363021:p.Glu36Ala		Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	hg19	CCDS314.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.790742	0.31685	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.22134	2.29;2.28;2.25;1.97	4.59	4.59	0.56863	.	0.048023	0.85682	D	0.000000	T	0.20577	0.0495	L	0.58101	1.795	0.50467	D	0.999874	B;B	0.24043	0.001;0.096	B;B	0.20184	0.003;0.028	T	0.04140	-1.0974	10	0.14656	T	0.56	-13.889	13.2408	0.59995	0.0:0.0:0.0:1.0	.	36;44	P15927;P15927-2	RFA2_HUMAN;.	A	36;44;124;40	ENSP00000363021:E36A;ENSP00000363017:E44A;ENSP00000363015:E124A;ENSP00000387649:E40A	ENSP00000363015:E124A	E	-	2	0	RPA2	28113171	0.998000	0.40836	0.963000	0.40424	0.220000	0.24768	3.230000	0.51286	1.834000	0.53371	0.454000	0.30748	GAA		0.498	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		G	28240584	T	G	28240584	3	3	29	1	0	0	0	0	1	0	0	0	13543	1783	62	5	737	5	RPA2	1	28240584	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	10911994	28240584	221010037	2	2025											
DENND2C	163259	hgsc.bcm.edu	37	1	115143493	115143493	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr1:115143493G>A	ENST00000393274.1	-	14	2529	c.1904C>T	c.(1903-1905)gCt>gTt	p.A635V	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.A635V|DENND2C_ENST00000393276.3_Missense_Mutation_p.A578V	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	635	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGTCCAGGAGCTGGGAAAGG	0.448																																																0													128	124	125					1																	115143493		2203	4300	6503	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1904C>T	chr1.hg19:g.115143493G>A	ENSP00000376955:p.Ala635Val		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	hg19	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	35	5.559025	0.96514	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.12465	2.68;2.68;2.68	5.18	5.18	0.71444	DENN (3);	0.000000	0.49916	U	0.000121	T	0.31389	0.0795	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.986	T	0.08743	-1.0707	10	0.87932	D	0	.	18.7701	0.91888	0.0:0.0:1.0:0.0	.	635;578	Q68D51;Q68D51-3	DEN2C_HUMAN;.	V	578;635;635;635	ENSP00000376957:A578V;ENSP00000376955:A635V;ENSP00000376958:A635V	ENSP00000358553:A635V	A	-	2	0	DENND2C	114945016	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.431000	0.82371	0.650000	0.86243	GCT		0.448	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		A	115143493	G	A	115143493	3	1	29	1	0	0	0	0	1	0	0	0	4432	971	34	2	914	2	DENND2C	1	115143493	Missense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	86902909	115143493	134107128	3	2026											
RGL1	23179	hgsc.bcm.edu	37	1	183876147	183876147	+	Splice_Site	SNP	T	T	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr1:183876147T>G	ENST00000360851.3	+	14	1652	c.1474T>G	c.(1474-1476)Tat>Gat	p.Y492D	RGL1_ENST00000536277.1_Splice_Site_p.Y490D|RGL1_ENST00000539189.1_Splice_Site_p.Y463D|RGL1_ENST00000304685.4_Splice_Site_p.Y527D			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	492	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTTTCTCAGCTATGCCCTGTC	0.493																																																0													52	48	50					1																	183876147		2203	4300	6503	SO:0001630	splice_region_variant	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1473-1T>G	chr1.hg19:g.183876147T>G			Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	hg19		.	.	.	.	.	.	.	.	.	.	T	23.7	4.452241	0.84209	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.1	5.1	0.69264	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	H	0.95884	3.735	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.997;0.998;0.998	D;D;D;D;D	0.85130	0.997;0.994;0.986;0.994;0.994	T	0.81920	-0.0712	10	0.87932	D	0	.	14.5673	0.68185	0.0:0.0:0.0:1.0	.	463;490;297;492;527	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	D	527;527;490;297;492;463	ENSP00000303192:Y527D;ENSP00000356501:Y527D;ENSP00000438662:Y490D;ENSP00000354097:Y492D;ENSP00000437355:Y463D	ENSP00000303192:Y527D	Y	+	1	0	RGL1	182142770	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	7.564000	0.82326	1.920000	0.55613	0.459000	0.35465	TAT		0.493	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	Missense_Mutation	G	183876147	T	G	183876147	5	3	29	1	0	0	0	0	0	0	1	0	13282	1536	53	5	1633	5	RGL1	1	183876147	Splice_Site	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	68732654	183876147	65374474	4	2027											
AHCTF1	25909	hgsc.bcm.edu	37	1	247070993	247070993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr1:247070993delC	ENST00000391829.2	-	5	747	c.624delG	c.(622-624)gggfs	p.G208fs	AHCTF1_ENST00000366508.1_Frame_Shift_Del_p.G243fs|AHCTF1_ENST00000326225.3_Frame_Shift_Del_p.G217fs			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	208	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACAGATGGCGCCCTTGTCTCA	0.388																																					Colon(145;197 1800 4745 15099 26333)											0													134	126	129					1																	247070993		2203	4300	6503	SO:0001589	frameshift_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.624delG	chr1.hg19:g.247070993delC	ENSP00000375705:p.Gly208fs		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Frame_Shift_Del	DEL	ENST00000391829.2	hg19																																																																																					0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		-	247070993	C	-	247070993	7	5	29	1	0	1	0	1	0	0	0	0	408	726	26	0	6304	0	AHCTF1	1	247070993	Frame_Shift_Del	DEL	C	TCGA-5P-A9JW-01A-11D-A42J-10	63194846	247070993	2179628	5	2028											
EPCAM	4072	hgsc.bcm.edu	37	2	47601159	47601159	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr2:47601159A>C	ENST00000263735.4	+	3	755	c.397A>C	c.(397-399)Ata>Cta	p.I133L	EPCAM_ENST00000405271.1_Missense_Mutation_p.I161L	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	133	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GGACACTGAAATAACCTGCTC	0.453																																																3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)											61	56	58					2																	47601159		2203	4300	6503	SO:0001583	missense	4072			M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"CD molecules"	11529	protein-coding gene	gene with protein product		185535	"antigen identified by monoclonal antibody AUA1", "tumor-associated calcium signal transducer 1"	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.397A>C	chr2.hg19:g.47601159A>C	ENSP00000263735:p.Ile133Leu		P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	hg19	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	A	6.234	0.411217	0.11812	.	.	ENSG00000119888	ENST00000405271;ENST00000263735	T;T	0.61510	0.1;0.1	5.93	5.93	0.95920	Thyroglobulin type-1 (4);	0.396683	0.28414	N	0.015423	T	0.33760	0.0874	N	0.13327	0.33	0.33639	D	0.60697	B;B	0.17465	0.022;0.022	B;B	0.19946	0.027;0.027	T	0.38564	-0.9655	10	0.02654	T	1	-14.877	8.4191	0.32690	0.7393:0.1257:0.0:0.135	.	133;161	P16422;B5MCA4	EPCAM_HUMAN;.	L	161;133	ENSP00000385476:I161L;ENSP00000263735:I133L	ENSP00000263735:I133L	I	+	1	0	EPCAM	47454663	0.876000	0.30132	0.840000	0.33206	0.979000	0.70002	1.427000	0.34881	2.281000	0.76405	0.533000	0.62120	ATA		0.453	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			C	47601159	A	C	47601159	3	2	29	1	0	0	0	0	1	0	0	0	5164	101	4	5	407	5	EPCAM	2	47601159	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10		47601159	195598214	6	2029											
SMEK2	57223	hgsc.bcm.edu	37	2	55826141	55826141	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr2:55826141T>G	ENST00000345102.5	-	4	633	c.332A>C	c.(331-333)cAg>cCg	p.Q111P	SMEK2_ENST00000272313.5_Missense_Mutation_p.Q111P|SMEK2_ENST00000407823.3_Missense_Mutation_p.Q111P	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	111					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGAGGTCCTGTGTGACTTC	0.348																																																0													114	123	120					2																	55826141		2203	4300	6503	SO:0001583	missense	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.332A>C	chr2.hg19:g.55826141T>G	ENSP00000339769:p.Gln111Pro		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	hg19	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982446	0.74474	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.44083	0.93;0.93;0.93	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.67397	2.05	0.80722	D	1	D;D;D	0.67145	0.98;0.996;0.991	P;D;P	0.65323	0.844;0.934;0.844	T	0.58819	-0.7569	10	0.34782	T	0.22	-7.2839	16.0711	0.80936	0.0:0.0:0.0:1.0	.	111;111;111	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	P	111	ENSP00000272313:Q111P;ENSP00000385912:Q111P;ENSP00000339769:Q111P	ENSP00000272313:Q111P	Q	-	2	0	SMEK2	55679645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.197000	0.70478	0.482000	0.46254	CAG		0.348	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		G	55826141	T	G	55826141	3	3	29	1	0	0	0	0	1	0	0	0	14800	1580	55	5	2273	5	SMEK2	2	55826141	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	8224982	55826141	187373232	7	2030											
STARD7	56910	hgsc.bcm.edu	37	2	96852507	96852507	+	Missense_Mutation	SNP	G	G	T	rs114169229	byFrequency	TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr2:96852507G>T	ENST00000337288.5	-	8	1457	c.1074C>A	c.(1072-1074)aaC>aaA	p.N358K	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	358						mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AGCTGCCCTCGTTCTTTCGCT	0.502																																																0													74	69	71					2																	96852507		2203	4300	6503	SO:0001583	missense	56910			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"StAR-related lipid transfer (START) domain containing"	18063	protein-coding gene	gene with protein product			"START domain containing 7"				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.1074C>A	chr2.hg19:g.96852507G>T	ENSP00000338030:p.Asn358Lys		D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	ENST00000337288.5	hg19	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845469	0.32606	.	.	ENSG00000084090	ENST00000337288	T	0.42131	0.98	5.84	-7.15	0.01521	.	0.464535	0.25375	N	0.031122	T	0.18551	0.0445	N	0.14661	0.345	0.31229	N	0.696539	B	0.02656	0.0	B	0.04013	0.001	T	0.22277	-1.0221	10	0.15066	T	0.55	-2.3782	13.2244	0.59907	0.1327:0.0:0.7731:0.0942	.	358	Q9NQZ5	STAR7_HUMAN	K	358	ENSP00000338030:N358K	ENSP00000338030:N358K	N	-	3	2	STARD7	96216234	0.000000	0.05858	0.020000	0.16555	0.505000	0.33919	-1.852000	0.01667	-1.229000	0.02564	-0.302000	0.09304	AAC		0.502	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			T	96852507	G	T	96852507	3	4	29	1	0	0	0	0	1	0	0	0	15267	1136	40	4	42	4	STARD7	2	96852507	Missense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	41026366	96852507	146346866	8	2031											
CCDC148	130940	hgsc.bcm.edu	37	2	159170296	159170296	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr2:159170296T>C	ENST00000283233.5	-	8	1188	c.875A>G	c.(874-876)tAt>tGt	p.Y292C	CCDC148_ENST00000409187.1_Missense_Mutation_p.Y301C|CCDC148_ENST00000536771.1_Missense_Mutation_p.Y206C	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	292										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTGAGGAAAATATCTTTGTAA	0.378																																																0													110	111	111					2																	159170296		2203	4300	6503	SO:0001583	missense	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.875A>G	chr2.hg19:g.159170296T>C	ENSP00000283233:p.Tyr292Cys		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	hg19	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618527	0.28801	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.31510	1.94;1.94;1.49	5.25	2.81	0.32909	.	.	.	.	.	T	0.39410	0.1077	L	0.35288	1.05	0.28868	N	0.895142	D;D;D;B;B	0.89917	1.0;1.0;1.0;0.003;0.001	D;D;D;B;B	0.73380	0.98;0.98;0.98;0.005;0.003	T	0.14448	-1.0472	9	0.38643	T	0.18	-1.2543	8.4684	0.32971	0.0:0.1691:0.0:0.8309	.	206;140;140;301;292	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	C	292;140;301;206	ENSP00000283233:Y292C;ENSP00000386674:Y301C;ENSP00000443740:Y206C	ENSP00000283233:Y292C	Y	-	2	0	CCDC148	158878542	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.803000	0.27083	0.841000	0.35020	0.460000	0.39030	TAT		0.378	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		C	159170296	T	C	159170296	3	2	29	1	0	0	0	0	1	0	0	0	2784	1406	49	3	980	3	CCDC148	2	159170296	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	62317789	159170296	84029077	9	2032											
SP3	6670	hgsc.bcm.edu	37	2	174829164	174829164	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr2:174829164T>C	ENST00000310015.6	-	2	655	c.125A>G	c.(124-126)aAc>aGc	p.N42S	SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Missense_Mutation_p.N30S|SP3_ENST00000418194.2_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	42					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CACCGCACCGTTTCCGTGCTG	0.721																																																0													2	3	3					2																	174829164		1635	3328	4963	SO:0001583	missense	6670			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.125A>G	chr2.hg19:g.174829164T>C	ENSP00000310301:p.Asn42Ser		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	hg19	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	11.88|11.88	1.770428|1.770428	0.31320|0.31320	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789|ENST00000416195	T;T|.	0.05996|.	3.58;3.36|.	2.46|2.46	2.46|2.46	0.29980|0.29980	.|.	1.639320|.	0.04616|.	U|.	0.401148|.	T|T	0.19046|0.19046	0.0457|0.0457	N|N	0.08118|0.08118	0|0	0.20307|0.20307	N|N	0.999915|0.999915	B;B;B|.	0.26445|.	0.092;0.092;0.149|.	B;B;B|.	0.15052|.	0.007;0.007;0.012|.	T|T	0.23440|0.23440	-1.0188|-1.0188	10|5	0.14656|.	T|.	0.56|.	.|.	9.5141|9.5141	0.39095|0.39095	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	42;42;30|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	S|A	42;30|40	ENSP00000310301:N42S;ENSP00000388903:N30S|.	ENSP00000310301:N42S|.	N|T	-|-	2|1	0|0	SP3|SP3	174537410|174537410	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.709000|0.709000	0.40893|0.40893	1.163000|1.163000	0.31798|0.31798	0.925000|0.925000	0.37094|0.37094	0.353000|0.353000	0.21931|0.21931	AAC|ACG		0.721	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		C	174829164	T	C	174829164	3	2	29	1	0	0	0	0	1	0	0	0	14971	1725	60	3	2244	3	SP3	2	174829164	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	15658868	174829164	68370209	10	2033											
NDUFA10	4705	hgsc.bcm.edu	37	2	240954246	240954246	+	Silent	SNP	G	G	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr2:240954246G>A	ENST00000252711.2	-	5	679	c.579C>T	c.(577-579)gtC>gtT	p.V193V	NDUFA10_ENST00000404554.1_Silent_p.V193V|NDUFA10_ENST00000307300.4_Silent_p.V233V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	193					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		CGCAGATGGTGACGCTCTTCA	0.552																																																0													121	103	109					2																	240954246		2203	4300	6503	SO:0001819	synonymous_variant	4705			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"Mitochondrial respiratory chain complex / Complex I"	7684	protein-coding gene	gene with protein product	"complex I 42kDa subunit"	603835	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.579C>T	chr2.hg19:g.240954246G>A			Q8WXC9	Silent	SNP	ENST00000252711.2	hg19	CCDS2531.1																																																																																				0.552	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		A	240954246	G	A	240954246	2	1	29	1	0	0	0	0	0	0	0	1	10262	1277	45	2		2	NDUFA10	2	240954246	Silent	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	66125082	240954246	2245127	11	2034											
SETMAR	6419	hgsc.bcm.edu	37	3	4355443	4355443	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr3:4355443G>C	ENST00000358065.4	+	2	1085	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	SETMAR_ENST00000430981.1_Missense_Mutation_p.E340Q|SETMAR_ENST00000425863.1_Missense_Mutation_p.E201Q|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	340	Histone-lysine N-methyltransferase.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ATTGACCCTTGAGGTGAGTCT	0.502								Chromatin Structure																																								0													95	89	91					3																	4355443		2203	4300	6503	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1018G>C	chr3.hg19:g.4355443G>C	ENSP00000373354:p.Glu340Gln		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	hg19	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376893	0.24857	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863;ENST00000358950	D;D;T	0.95447	-3.65;-3.71;0.48	3.52	-3.91	0.04168	.	.	.	.	.	D	0.83959	0.5367	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.25105	0.118;0.068;0.068;0.043;0.004	B;B;B;B;B	0.18263	0.015;0.021;0.014;0.003;0.002	T	0.73500	-0.3963	9	0.40728	T	0.16	.	0.2421	0.00193	0.346:0.1408:0.2007:0.3125	.	84;201;327;85;340	B4DND2;E7EN68;Q53H47;Q96H41;C9JHK2	.;.;SETMR_HUMAN;.;.	Q	340;340;201;104	ENSP00000373354:E340Q;ENSP00000403000:E340Q;ENSP00000403145:E201Q	ENSP00000373354:E340Q	E	+	1	0	SETMAR	4330443	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.345000	0.00249	-0.959000	0.03618	0.655000	0.94253	GAG		0.502	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		C	4355443	G	C	4355443	3	2	29	1	0	0	0	0	1	0	0	0	14146	1291	45	4	1024	4	SETMAR	3	4355443	Missense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10		4355443	193666987	12	2035											
STAB1	23166	hgsc.bcm.edu	37	3	52539392	52539395	+	Frame_Shift_Del	DEL	CTGG	CTGG	-			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	CTGG	CTGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr3:52539392_52539395delCTGG	ENST00000321725.6	+	14	1652_1655	c.1576_1579delCTGG	c.(1576-1581)ctggagfs	p.LE526fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	526	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGAAACCATCCTGGAGGTAAGCTC	0.593																																																0																																										SO:0001589	frameshift_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1576_1579delCTGG	chr3.hg19:g.52539392_52539395delCTGG	ENSP00000312946:p.Leu526fs		A7E297|Q8IUH0|Q8IUH1|Q93072	Frame_Shift_Del	DEL	ENST00000321725.6	hg19	CCDS33768.1																																																																																				0.593	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		-	52539395	CTGG	-	52539392	7	5	29	1	0	1	0	1	0	0	0	0	15242	680	24	0	1630	0	STAB1	3	52539392	Frame_Shift_Del	DEL	CTGG	TCGA-5P-A9JW-01A-11D-A42J-10	48183949	52539392	145483038	13	2036	21	2									
STAB1	23166	hgsc.bcm.edu	37	3	52539397	52539397	+	Splice_Site	DEL	G	G	-			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr3:52539397delG	ENST00000321725.6	+	14	1657	c.1581delG	c.(1579-1581)gag>ga	p.E527fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	527	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCATCCTGGAGGTAAGCTCGG	0.587																																																0													36	38	37					3																	52539397		2202	4300	6502	SO:0001630	splice_region_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1581+1G>-	chr3.hg19:g.52539397delG			A7E297|Q8IUH0|Q8IUH1|Q93072	Frame_Shift_Del	DEL	ENST00000321725.6	hg19	CCDS33768.1																																																																																				0.587	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Frame_Shift_Del	-	52539397	G	-	52539397	8	5	29	1	0	1	0	1	0	0	1	0	15242	1014	35	0	1635	0	STAB1	3	52539397	Splice_Site	DEL	G	TCGA-5P-A9JW-01A-11D-A42J-10	5	52539397	145483033	14	2037	21	2									
CACNA1D	776	hgsc.bcm.edu	37	3	53694259	53694259	+	Silent	SNP	C	C	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr3:53694259C>A	ENST00000350061.5	+	5	1234	c.723C>A	c.(721-723)gcC>gcA	p.A241A	CACNA1D_ENST00000288139.4_Silent_p.A241A|CACNA1D_ENST00000422281.2_Silent_p.A241A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	241					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCTCCGTGCCTTTCGAGTGT	0.473																																																0													66	62	64					3																	53694259		2203	4300	6503	SO:0001819	synonymous_variant	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.723C>A	chr3.hg19:g.53694259C>A			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	hg19	CCDS46848.1																																																																																				0.473	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		A	53694259	C	A	53694259	2	1	29	1	0	0	0	0	0	0	0	1	2543	668	24	4		4	CACNA1D	3	53694259	Silent	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	1154862	53694259	144328171	15	2038											
QTRTD1	79691	hgsc.bcm.edu	37	3	113786834	113786834	+	Splice_Site	SNP	G	G	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr3:113786834G>A	ENST00000281273.4	+	5	514	c.257G>A	c.(256-258)gGc>gAc	p.G86D	QTRTD1_ENST00000466050.1_Intron|QTRTD1_ENST00000493014.1_Intron|QTRTD1_ENST00000479882.1_Intron|QTRTD1_ENST00000485050.1_Splice_Site_p.G98D	NM_024638.3	NP_078914.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GTTTATACAGGCATGCCAGAA	0.458																																																0													201	180	187					3																	113786834		2203	4300	6503	SO:0001630	splice_region_variant	79691			AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000281273.4:c.257-1G>A	chr3.hg19:g.113786834G>A				Missense_Mutation	SNP	ENST00000281273.4	hg19	CCDS33828.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978009	0.92982	.	.	ENSG00000151576	ENST00000472599;ENST00000485050;ENST00000281273;ENST00000482307	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.84220	0.5424	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.98	T	0.83339	-0.0009	8	.	.	.	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	100;86	C9JJ71;Q9H974	.;QTRD1_HUMAN	D	100;98;86;86	.	.	G	+	2	0	QTRTD1	115269524	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	8.916000	0.92745	2.894000	0.99253	0.655000	0.94253	GGC		0.458	QTRTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354708.2	NM_024638	Missense_Mutation	A	113786834	G	A	113786834	5	1	29	1	0	0	0	0	0	0	1	0	12892	1217	42	2	267	2	QTRTD1	3	113786834	Splice_Site	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	60092575	113786834	84235596	16	2039											
MYLK	4638	hgsc.bcm.edu	37	3	123452791	123452791	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr3:123452791C>T	ENST00000475616.1	-	7	1051	c.1052G>A	c.(1051-1053)aGa>aAa	p.R351K	MYLK_ENST00000360304.3_Missense_Mutation_p.R351K|MYLK_ENST00000346322.5_Missense_Mutation_p.R351K|MYLK_ENST00000360772.3_Missense_Mutation_p.R351K|MYLK_ENST00000359169.1_Missense_Mutation_p.R351K			Q15746	MYLK_HUMAN	myosin light chain kinase	351					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGGCTGAACTCTTGCGGCCTG	0.632																																																0													74	80	78					3																	123452791		2203	4300	6503	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1052G>A	chr3.hg19:g.123452791C>T	ENSP00000418335:p.Arg351Lys		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317658	0.05386	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.64085	-0.08;-0.03;-0.08;0.05;-0.03	5.43	-2.45	0.06481	.	.	.	.	.	T	0.32704	0.0838	N	0.04880	-0.145	0.09310	N	0.999993	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.32798	-0.9893	9	0.02654	T	1	.	11.7978	0.52110	0.0:0.561:0.0:0.439	.	351;351;351;351;351	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	K	351	ENSP00000354004:R351K;ENSP00000353452:R351K;ENSP00000352088:R351K;ENSP00000320622:R351K;ENSP00000418335:R351K	ENSP00000320622:R351K	R	-	2	0	MYLK	124935481	0.326000	0.24669	0.000000	0.03702	0.004000	0.04260	0.159000	0.16442	-0.306000	0.08818	-0.136000	0.14681	AGA		0.632	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		T	123452791	C	T	123452791	3	4	29	1	0	0	0	0	1	0	0	0	10058	913	32	2	4792	2	MYLK	3	123452791	Missense_Mutation	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	9665957	123452791	74569639	17	2040											
CCDC14	64770	hgsc.bcm.edu	37	3	123663747	123663747	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr3:123663747T>G	ENST00000488653.2	-	9	1526	c.1436A>C	c.(1435-1437)gAg>gCg	p.E479A	CCDC14_ENST00000485727.1_Missense_Mutation_p.E279A|CCDC14_ENST00000310351.4_Missense_Mutation_p.E319A|CCDC14_ENST00000489746.1_Missense_Mutation_p.E279A|CCDC14_ENST00000433542.2_Missense_Mutation_p.E438A|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	479					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CAGTGCTATCTCAACTTGAAT	0.378																																																0													158	128	138					3																	123663747		2203	4300	6503	SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1436A>C	chr3.hg19:g.123663747T>G	ENSP00000420180:p.Glu479Ala		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	hg19		.	.	.	.	.	.	.	.	.	.	T	14.04	2.416581	0.42918	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000419247	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.09	5.09	0.68999	.	0.192154	0.35805	N	0.002962	T	0.69486	0.3116	M	0.65498	2.005	0.47476	D	0.999439	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.69855	-0.5032	10	0.44086	T	0.13	.	14.2744	0.66170	0.0:0.0:0.0:1.0	.	479;438;279;320	Q49A88;Q49A88-6;Q49A88-4;Q49A88-5	CCD14_HUMAN;.;.;.	A	479;319;279;279;438;460;120	ENSP00000420180:E479A;ENSP00000312031:E319A;ENSP00000418002:E279A;ENSP00000418403:E279A;ENSP00000395706:E438A;ENSP00000386866:E460A;ENSP00000400957:E120A	ENSP00000312031:E319A	E	-	2	0	CCDC14	125146437	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	5.326000	0.65875	2.267000	0.75376	0.383000	0.25322	GAG		0.378	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		G	123663747	T	G	123663747	3	3	29	1	0	0	0	0	1	0	0	0	2775	1551	54	5	1445	5	CCDC14	3	123663747	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	210956	123663747	74358683	18	2041											
CEP135	9662	hgsc.bcm.edu	37	4	56841058	56841058	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr4:56841058C>T	ENST00000257287.4	+	11	1520	c.1396C>T	c.(1396-1398)Cat>Tat	p.H466Y		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	466					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAGACTCCAACATATAATACA	0.353																																																0													78	80	80					4																	56841058		2203	4300	6503	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1396C>T	chr4.hg19:g.56841058C>T	ENSP00000257287:p.His466Tyr		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	hg19	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.304988	0.40795	.	.	ENSG00000174799	ENST00000257287	T	0.41758	0.99	5.89	4.97	0.65823	.	0.426257	0.26948	N	0.021687	T	0.38321	0.1036	L	0.44542	1.39	0.23632	N	0.997242	B	0.28258	0.205	B	0.30495	0.116	T	0.40270	-0.9572	10	0.66056	D	0.02	.	13.7008	0.62608	0.2299:0.7701:0.0:0.0	.	466	Q66GS9	CP135_HUMAN	Y	466	ENSP00000257287:H466Y	ENSP00000257287:H466Y	H	+	1	0	CEP135	56535815	0.973000	0.33851	0.989000	0.46669	0.725000	0.41563	2.255000	0.43222	2.781000	0.95711	0.555000	0.69702	CAT		0.353	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		T	56841058	C	T	56841058	3	4	29	1	0	0	0	0	1	0	0	0	3249	478	17	2	1434	2	CEP135	4	56841058	Missense_Mutation	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10		56841058	134313218	19	2042											
C4orf22	255119	hgsc.bcm.edu	37	4	81256926	81256926	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr4:81256926G>C	ENST00000358105.3	+	1	53	c.4G>C	c.(4-6)Gat>Cat	p.D2H	C4orf22_ENST00000508675.1_Missense_Mutation_p.D2H|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	2								p.D2Y(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TACCGCAATGGATCAGGAAGA	0.542											OREG0016247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	lung(1)											99	89	92					4																	81256926		2203	4300	6503	SO:0001583	missense	255119			BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.4G>C	chr4.hg19:g.81256926G>C	ENSP00000350818:p.Asp2His	1204	E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	hg19	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283543	0.40394	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.35605	1.3;1.33	5.37	4.53	0.55603	.	0.656132	0.14642	N	0.307175	T	0.35307	0.0927	L	0.36672	1.1	0.36933	D	0.891999	P;P	0.44946	0.846;0.755	P;P	0.45610	0.487;0.487	T	0.41378	-0.9512	10	0.72032	D	0.01	.	11.1806	0.48625	0.0853:0.0:0.9147:0.0	.	2;2	E7EQ13;Q6V702	.;CD022_HUMAN	H	2	ENSP00000350818:D2H;ENSP00000425786:D2H	ENSP00000350818:D2H	D	+	1	0	C4orf22	81475950	1.000000	0.71417	0.988000	0.46212	0.010000	0.07245	2.982000	0.49337	1.505000	0.48720	0.655000	0.94253	GAT		0.542	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		C	81256926	G	C	81256926	3	2	29	1	0	0	0	0	1	0	0	0	2257	1174	41	4	6	4	C4orf22	4	81256926	Missense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	24415868	81256926	109897350	20	2043											
ELF2	1998	hgsc.bcm.edu	37	4	140046428	140046428	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr4:140046428G>T	ENST00000394235.2	-	4	630	c.128C>A	c.(127-129)gCc>gAc	p.A43D	ELF2_ENST00000379550.1_Missense_Mutation_p.A43D|ELF2_ENST00000265495.4_Missense_Mutation_p.A43D	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTCTAATCTGGCACTTGGAAC	0.398																																																0													149	142	144					4																	140046428		2203	4300	6503	SO:0001583	missense	1998			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.128C>A	chr4.hg19:g.140046428G>T	ENSP00000377782:p.Ala43Asp			Missense_Mutation	SNP	ENST00000394235.2	hg19	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100421	0.94245	.	.	ENSG00000109381	ENST00000394235;ENST00000379550;ENST00000265495	T;T;T	0.57752	0.38;0.38;0.38	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.75264	2.295	0.80722	D	1	P	0.50369	0.934	P	0.51999	0.687	T	0.66578	-0.5888	9	.	.	.	.	19.8298	0.96631	0.0:0.0:1.0:0.0	.	43	Q15723-1	.	D	43	ENSP00000377782:A43D;ENSP00000368868:A43D;ENSP00000265495:A43D	.	A	-	2	0	ELF2	140265878	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.211000	0.95120	2.687000	0.91594	0.591000	0.81541	GCC		0.398	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		T	140046428	G	T	140046428	3	4	29	1	0	0	0	0	1	0	0	0	5056	1203	42	4	1743	4	ELF2	4	140046428	Missense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	58789502	140046428	51107848	21	2044											
WDR17	116966	hgsc.bcm.edu	37	4	177098210	177098210	+	Splice_Site	SNP	C	C	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr4:177098210C>A	ENST00000280190.4	+	29	3724	c.3568C>A	c.(3568-3570)Cag>Aag	p.Q1190K	WDR17_ENST00000508596.1_Splice_Site_p.Q1151K|WDR17_ENST00000393643.2_Splice_Site_p.Q1166K|WDR17_ENST00000507824.2_Splice_Site_p.Q1165K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1190										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CACGTTCAGTCAGCTATTAAA	0.348																																																0													62	62	62					4																	177098210		2203	4300	6503	SO:0001630	splice_region_variant	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3567-1C>A	chr4.hg19:g.177098210C>A			E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	hg19	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.53|19.53	3.844105|3.844105	0.71488|0.71488	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.54479|.	0.57;0.57;0.57|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76435|.	0.3987|.	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	P;D;D|.	0.61080|.	0.925;0.989;0.989|.	P;D;D|.	0.69824|.	0.48;0.966;0.966|.	T|.	0.72465|.	-0.4285|.	10|.	0.38643|0.35671	T|T	0.18|0.21	-12.2134|-12.2134	20.2184|20.2184	0.98308|0.98308	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1166;1151;1190|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	K|X	1151;1166;1190;1166|424	ENSP00000422763:Q1151K;ENSP00000377258:Q1166K;ENSP00000280190:Q1190K|.	ENSP00000280190:Q1190K|ENSP00000426985:S424X	Q|S	+|+	1|2	0|0	WDR17|WDR17	177335204|177335204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	7.004000|7.004000	0.76317|0.76317	2.775000|2.775000	0.95449|0.95449	0.644000|0.644000	0.83932|0.83932	CAG|TCA		0.348	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Missense_Mutation	A	177098210	C	A	177098210	5	1	29	1	0	0	0	0	0	0	1	0	17282	840	29	4	3678	4	WDR17	4	177098210	Splice_Site	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	37051782	177098210	14056066	22	2045											
MLF1IP	79682	hgsc.bcm.edu	37	4	185637572	185637572	+	Silent	SNP	G	G	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr4:185637572G>A	ENST00000281453.5	-	6	667	c.597C>T	c.(595-597)aaC>aaT	p.N199N	MLF1IP_ENST00000506535.1_5'Flank|MLF1IP_ENST00000541971.1_Silent_p.N199N	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		CTATTGCCAAGTTCTCTTTTT	0.428																																																0													72	71	71					4																	185637572		2203	4300	6503	SO:0001819	synonymous_variant	79682																														ENST00000281453.5:c.597C>T	chr4.hg19:g.185637572G>A				Silent	SNP	ENST00000281453.5	hg19	CCDS3838.1																																																																																				0.428	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2			A	185637572	G	A	185637572	2	1	29	1	0	0	0	0	0	0	0	1	9617	1020	36	2		2	MLF1IP	4	185637572	Silent	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	8539362	185637572	5516704	23	2046											
SEMA5A	9037	hgsc.bcm.edu	37	5	9052121	9052121	+	Silent	SNP	C	C	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr5:9052121C>G	ENST00000382496.5	-	20	3374	c.2709G>C	c.(2707-2709)tcG>tcC	p.S903S	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	903	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGACCAGTCCGACCACTCCG	0.592																																																0													28	30	29					5																	9052121		2203	4300	6503	SO:0001819	synonymous_variant	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2709G>C	chr5.hg19:g.9052121C>G			D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	hg19	CCDS3875.1																																																																																				0.592	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			G	9052121	C	G	9052121	2	3	29	1	0	0	0	0	0	0	0	1	14043	639	23	4		4	SEMA5A	5	9052121	Silent	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10		9052121	171863139	24	2047											
HTR1A	3350	hgsc.bcm.edu	37	5	63257506	63257506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr5:63257506G>T	ENST00000323865.3	-	1	274	c.41C>A	c.(40-42)tCa>tAa	p.S14*	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	14					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGCCGGTGGTGATGTGGTGTT	0.622																																																0													100	94	96					5																	63257506		2203	4300	6503	SO:0001587	stop_gained	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.41C>A	chr5.hg19:g.63257506G>T	ENSP00000316244:p.Ser14*		Q6LAE7	Nonsense_Mutation	SNP	ENST00000323865.3	hg19	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788319	0.70337	.	.	ENSG00000178394	ENST00000323865;ENST00000506598	.	.	.	4.48	4.48	0.54585	.	1.590520	0.03632	N	0.238045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	16.1532	0.81636	0.0:0.0:1.0:0.0	.	.	.	.	X	14	.	ENSP00000316244:S14X	S	-	2	0	HTR1A	63293262	0.019000	0.18553	0.013000	0.15412	0.101000	0.19017	1.258000	0.32944	2.053000	0.61076	0.561000	0.74099	TCA		0.622	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		T	63257506	G	T	63257506	4	4	29	1	0	0	0	0	0	1	0	0	7438	1294	45	4	1230	4	HTR1A	5	63257506	Nonsense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	54205385	63257506	117657754	25	2048											
MAN2A1	4124	hgsc.bcm.edu	37	5	109183439	109183439	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr5:109183439delT	ENST00000261483.4	+	19	3976	c.2924delT	c.(2923-2925)attfs	p.I975fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	975					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATAACAAGATTACAGCTAAT	0.348																																																0													107	101	103					5																	109183439		2200	4299	6499	SO:0001589	frameshift_variant	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2924delT	chr5.hg19:g.109183439delT	ENSP00000261483:p.Ile975fs		Q16767	Frame_Shift_Del	DEL	ENST00000261483.4	hg19	CCDS34209.1																																																																																				0.348	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			-	109183439	T	-	109183439	7	5	29	1	0	1	0	1	0	0	0	0	9216	1493	52	0	2998	0	MAN2A1	5	109183439	Frame_Shift_Del	DEL	T	TCGA-5P-A9JW-01A-11D-A42J-10	45925933	109183439	71731821	26	2049											
SEPT8	23176	hgsc.bcm.edu	37	5	132099512	132099512	+	Silent	SNP	G	G	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr5:132099512G>T	ENST00000378719.2	-	4	657	c.420C>A	c.(418-420)cgC>cgA	p.R140R	SEPT8_ENST00000378699.2_Silent_p.R80R|SEPT8_ENST00000448933.1_Silent_p.R80R|SEPT8_ENST00000458488.2_Silent_p.R140R|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378701.1_Silent_p.R138R|SEPT8_ENST00000378721.4_Silent_p.R138R|SEPT8_ENST00000378706.1_Silent_p.R140R|SEPT8_ENST00000296873.7_Silent_p.R140R	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	140	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAAGAGCGAGCGGCGGATCT	0.517											OREG0003468	type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													158	161	160					5																	132099512		2001	4182	6183	SO:0001819	synonymous_variant	23176			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.420C>A	chr5.hg19:g.132099512G>T		1592	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Silent	SNP	ENST00000378719.2	hg19	CCDS43358.1																																																																																				0.517	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		T	132099512	G	T	132099512	2	4	29	1	0	0	0	0	0	0	0	1	14076	958	34	4		4	SEPT8	5	132099512	Silent	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	22916073	132099512	48815748	27	2050											
NR3C1	2908	hgsc.bcm.edu	37	5	142675051	142675052	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr5:142675051_142675052delAT	ENST00000343796.2	-	7	2989_2990	c.1996_1997delAT	c.(1996-1998)atgfs	p.M666fs	NR3C1_ENST00000504572.1_Frame_Shift_Del_p.M667fs|NR3C1_ENST00000231509.3_Frame_Shift_Del_p.M667fs|NR3C1_ENST00000415690.2_Frame_Shift_Del_p.M666fs|NR3C1_ENST00000503201.1_Frame_Shift_Del_p.M666fs|NR3C1_ENST00000394466.2_Frame_Shift_Del_p.M667fs|NR3C1_ENST00000424646.2_Frame_Shift_Del_p.M640fs|NR3C1_ENST00000394464.2_Frame_Shift_Del_p.M666fs|NR3C1_ENST00000416954.2_Frame_Shift_Del_p.M269fs	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	666	Interaction with CLOCK.|Interaction with CRY1.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TAAGGTTTTCATACAGAGATAC	0.381																																																0																																										SO:0001589	frameshift_variant	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1996_1997delAT	chr5.hg19:g.142675051_142675052delAT	ENSP00000343205:p.Met666fs		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Frame_Shift_Del	DEL	ENST00000343796.2	hg19	CCDS4278.1																																																																																				0.381	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			-	142675052	AT	-	142675051	7	5	29	1	0	1	0	1	0	0	0	0	10632	217	8	0	400	0	NR3C1	5	142675051	Frame_Shift_Del	DEL	AT	TCGA-5P-A9JW-01A-11D-A42J-10	10575539	142675051	38240209	28	2051											
NEU1	4758	hgsc.bcm.edu	37	6	31829963	31829963	+	Silent	SNP	C	C	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr6:31829963C>T	ENST00000375631.4	-	2	294	c.165G>A	c.(163-165)caG>caA	p.Q55Q		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	55					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	TCACCAGCGGCTGCACCTGTC	0.587																																																0													68	44	52					6																	31829963		1510	2709	4219	SO:0001819	synonymous_variant	4758			AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.165G>A	chr6.hg19:g.31829963C>T				Silent	SNP	ENST00000375631.4	hg19	CCDS4723.1																																																																																				0.587	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			T	31829963	C	T	31829963	2	4	29	1	0	0	0	0	0	0	0	1	10343	796	28	2		2	NEU1	6	31829963	Silent	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10		31829963	139285104	29	2052											
PKHD1	5314	hgsc.bcm.edu	37	6	51889838	51889838	+	Silent	SNP	G	G	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr6:51889838G>C	ENST00000371117.3	-	32	5045	c.4770C>G	c.(4768-4770)ctC>ctG	p.L1590L	PKHD1_ENST00000340994.4_Silent_p.L1590L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1590	IPT/TIG 11.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTATGGTCAAGAGGCTTCCAC	0.473																																																0													111	101	104					6																	51889838		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4770C>G	chr6.hg19:g.51889838G>C			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	hg19	CCDS4935.1																																																																																				0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51889838	G	C	51889838	2	2	29	1	0	0	0	0	0	0	0	1	11973	929	33	4		4	PKHD1	6	51889838	Silent	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	20059875	51889838	119225229	30	2053											
C6orf150	115004	hgsc.bcm.edu	37	6	74161674	74161674	+	Silent	SNP	A	A	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr6:74161674A>G	ENST00000370315.3	-	1	325	c.231T>C	c.(229-231)acT>acC	p.T77T	MB21D1_ENST00000370318.1_Silent_p.T77T	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	77					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						CGCGGGCCCCAGTTGCGCGGA	0.726																																																0													4	4	4					6																	74161674		1811	3645	5456	SO:0001819	synonymous_variant	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.231T>C	chr6.hg19:g.74161674A>G			L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	hg19	CCDS4978.1																																																																																				0.726	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		G	74161674	A	G	74161674	2	3	29	1	0	0	0	0	0	0	0	1	2339	175	7	3		3	C6orf150	6	74161674	Silent	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10	22271836	74161674	96953393	31	2054											
CD164	8763	hgsc.bcm.edu	37	6	109697298	109697298	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr6:109697298C>T	ENST00000310786.4	-	4	414	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	CD164_ENST00000512821.1_Missense_Mutation_p.V117M|CD164_ENST00000368961.5_Intron|CD164_ENST00000275080.7_Intron|CD164_ENST00000413644.2_Missense_Mutation_p.V117M|CD164_ENST00000324953.5_Missense_Mutation_p.V117M|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000504373.1_Missense_Mutation_p.V83M	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	117	Thr-rich.				cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GCTGTTGGCACTGGAGTGGCC	0.323																																																0													54	56	55					6																	109697298		2203	4300	6503	SO:0001583	missense	8763			AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"CD molecules"	1632	protein-coding gene	gene with protein product		603356	"CD164 antigen, sialomucin"			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.349G>A	chr6.hg19:g.109697298C>T	ENSP00000309376:p.Val117Met		B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Missense_Mutation	SNP	ENST00000310786.4	hg19	CCDS5073.1	.	.	.	.	.	.	.	.	.	.	C	8.205	0.799104	0.16397	.	.	ENSG00000135535	ENST00000413644;ENST00000324953;ENST00000310786;ENST00000512821;ENST00000504373	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	4.56	-3.14	0.05250	.	1.016850	0.07895	N	0.971727	T	0.16385	0.0394	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.16802	0.015;0.015;0.019;0.015	B;B;B;B	0.18561	0.015;0.022;0.016;0.009	T	0.24728	-1.0152	10	0.45353	T	0.12	3.8623	4.7218	0.12922	0.3874:0.178:0.0:0.4346	.	117;117;117;117	Q04900-5;Q04900-4;Q04900;Q04900-2	.;.;MUC24_HUMAN;.	M	117;117;117;117;83	ENSP00000402237:V117M;ENSP00000314177:V117M;ENSP00000309376:V117M;ENSP00000427546:V117M;ENSP00000422999:V83M	ENSP00000309376:V117M	V	-	1	0	CD164	109803991	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.149000	0.10204	-0.711000	0.04995	-1.115000	0.02055	GTG		0.323	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	NM_006016		T	109697298	C	T	109697298	3	4	29	1	0	0	0	0	1	0	0	0	2971	565	20	2	307	2	CD164	6	109697298	Missense_Mutation	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	35535624	109697298	61417769	32	2055											
STK17A	9263	hgsc.bcm.edu	37	7	43663376	43663376	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr7:43663376A>T	ENST00000319357.5	+	6	988	c.809A>T	c.(808-810)gAa>gTa	p.E270V		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GATAAACAAGAAACATTCTTA	0.318																																																0													97	98	98					7																	43663376		2202	4293	6495	SO:0001583	missense	9263			AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"death-associated protein kinase-related 1"	604726	"serine/threonine kinase 17a (apoptosis-inducing)"			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.809A>T	chr7.hg19:g.43663376A>T	ENSP00000319192:p.Glu270Val		A4D1V6|Q8IVC8	Missense_Mutation	SNP	ENST00000319357.5	hg19	CCDS5470.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612206	0.87258	.	.	ENSG00000164543	ENST00000319357	T	0.66638	-0.22	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000167	T	0.79528	0.4461	M	0.69523	2.12	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	T	0.82464	-0.0444	10	0.87932	D	0	.	14.6526	0.68808	1.0:0.0:0.0:0.0	.	270	Q9UEE5	ST17A_HUMAN	V	270	ENSP00000319192:E270V	ENSP00000319192:E270V	E	+	2	0	STK17A	43629901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.695000	0.91298	1.844000	0.53588	0.455000	0.32223	GAA		0.318	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250902.1	NM_004760		T	43663376	A	T	43663376	3	4	29	1	0	0	0	0	1	0	0	0	15295	246	9	5	831	5	STK17A	7	43663376	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10		43663376	115475287	33	2056											
PCLO	27445	hgsc.bcm.edu	37	7	82465003	82465003	+	Silent	SNP	G	G	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr7:82465003G>A	ENST00000333891.9	-	16	14566	c.14229C>T	c.(14227-14229)gtC>gtT	p.V4743V	PCLO_ENST00000426442.2_Intron|PCLO_ENST00000423517.2_Silent_p.V4743V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGACAACCATGACTTGACTGC	0.373																																																0													59	58	58					7																	82465003		1877	4123	6000	SO:0001819	synonymous_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14229C>T	chr7.hg19:g.82465003G>A				Silent	SNP	ENST00000333891.9	hg19	CCDS47630.1																																																																																				0.373	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82465003	G	A	82465003	2	1	29	1	0	0	0	0	0	0	0	1	11585	1277	45	2		2	PCLO	7	82465003	Silent	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	38801627	82465003	76673660	34	2057											
TRPV6	55503	hgsc.bcm.edu	37	7	142574503	142574503	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr7:142574503T>A	ENST00000359396.3	-	5	820	c.575A>T	c.(574-576)cAg>cTg	p.Q192L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	192					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGGGAGTCCTGGGCCCGGAT	0.612																																																0													95	85	88					7																	142574503		2203	4300	6503	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.575A>T	chr7.hg19:g.142574503T>A	ENSP00000352358:p.Gln192Leu		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	hg19	CCDS5874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.63|18.63	3.665013|3.665013	0.67700|0.67700	.|.	.|.	ENSG00000165125|ENSG00000165125	ENST00000311470|ENST00000359396	.|T	.|0.65364	.|-0.15	4.67|4.67	3.52|3.52	0.40303|0.40303	.|Ankyrin repeat-containing domain (4);	.|0.059353	.|0.64402	.|D	.|0.000001	.|T	.|0.71634	.|0.3363	L|L	0.53561|0.53561	1.675|1.675	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	.|T	.|0.70317	.|-0.4905	.|10	.|0.56958	.|D	.|0.05	.|-20.3379	9.2268|9.2268	0.37412|0.37412	0.0:0.0863:0.0:0.9137|0.0:0.0863:0.0:0.9137	.|.	.|192	.|Q9H1D0	.|TRPV6_HUMAN	.|L	-1|192	.|ENSP00000352358:Q192L	.|ENSP00000352358:Q192L	.|Q	-|-	.|2	.|0	TRPV6|TRPV6	142284625|142284625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.535000|0.535000	0.34838|0.34838	7.799000|7.799000	0.85936|0.85936	0.661000|0.661000	0.30985|0.30985	0.533000|0.533000	0.62120|0.62120	.|CAG		0.612	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		A	142574503	T	A	142574503	3	1	29	1	0	0	0	0	1	0	0	0	16605	1580	55	5	1646	5	TRPV6	7	142574503	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	60109500	142574503	16564160	35	2058											
ABP1	26	hgsc.bcm.edu	37	7	150554433	150554433	+	Missense_Mutation	SNP	C	C	A	rs532287637		TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr7:150554433C>A	ENST00000493429.1	+	4	1459	c.875C>A	c.(874-876)cCc>cAc	p.P292H	AOC1_ENST00000416793.2_Missense_Mutation_p.P292H|AOC1_ENST00000467291.1_Missense_Mutation_p.P292H|AOC1_ENST00000360937.4_Missense_Mutation_p.P292H			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	292					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GGGGACTTCCCCAGCCCCATC	0.701																																																0													12	15	14					7																	150554433		1987	4141	6128	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.875C>A	chr7.hg19:g.150554433C>A	ENSP00000418614:p.Pro292His		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	hg19	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	4.108	0.018074	0.07959	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.01	3.15	0.36227	Copper amine oxidase, C-terminal (1);Copper amine oxidase, N-terminal (1);	0.511218	0.18147	N	0.150202	T	0.18800	0.0451	L	0.58101	1.795	0.09310	N	1	B;B	0.14012	0.009;0.006	B;B	0.09377	0.004;0.004	T	0.18713	-1.0328	10	0.39692	T	0.17	-36.7946	5.7513	0.18148	0.3563:0.5521:0.0:0.0915	.	292;292	C9J690;P19801	.;ABP1_HUMAN	H	292;292;292;292;168;292	ENSP00000418614:P292H;ENSP00000418328:P292H;ENSP00000354193:P292H;ENSP00000411613:P292H;ENSP00000417392:P292H	ENSP00000354193:P292H	P	+	2	0	ABP1	150185366	0.000000	0.05858	0.007000	0.13788	0.321000	0.28281	0.542000	0.23222	0.660000	0.30964	0.561000	0.74099	CCC		0.701	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		A	150554433	C	A	150554433	3	1	29	1	0	0	0	0	1	0	0	0	98	623	22	4	877	4	ABP1	7	150554433	Missense_Mutation	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	7979930	150554433	8584230	36	2059											
LPL	4023	hgsc.bcm.edu	37	8	19809403	19809405	+	In_Frame_Del	DEL	GCG	GCG	-	rs199675233		TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	GCG	GCG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr8:19809403_19809405delGCG	ENST00000311322.8	+	3	843_845	c.373_375delGCG	c.(373-375)gcgdel	p.A125del		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	125					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.A125T(1)|p.A125A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CCCAGTGTCCGCGGGCTACACCA	0.532																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)|prostate(1)	GRCh37	HM971397	LPL	M																																				SO:0001651	inframe_deletion	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.373_375delGCG	chr8.hg19:g.19809403_19809405delGCG	ENSP00000309757:p.Ala125del		B2R5T9|Q16282|Q16283|Q96FC4	In_Frame_Del	DEL	ENST00000311322.8	hg19	CCDS6012.1																																																																																				0.532	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			-	19809405	GCG	-	19809403	7	5	29	1	0	1	0	1	0	0	0	0	8923	1087	38	0	383	0	LPL	8	19809403	In_Frame_Del	DEL	GCG	TCGA-5P-A9JW-01A-11D-A42J-10		19809403	126554619	37	2060											
GFRA2	2675	hgsc.bcm.edu	37	8	21608372	21608372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr8:21608372G>T	ENST00000524240.1	-	4	1172	c.522C>A	c.(520-522)tgC>tgA	p.C174*	GFRA2_ENST00000517328.1_Nonsense_Mutation_p.C174*|GFRA2_ENST00000400782.4_Nonsense_Mutation_p.C69*|GFRA2_ENST00000518077.1_Nonsense_Mutation_p.C41*	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	174					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCAGCTTCTTGCAGTTGTCAT	0.617																																																0													40	46	44					8																	21608372		2197	4297	6494	SO:0001587	stop_gained	2675			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.522C>A	chr8.hg19:g.21608372G>T	ENSP00000428518:p.Cys174*		E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Nonsense_Mutation	SNP	ENST00000524240.1	hg19	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	G	36	5.723754	0.96847	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071;ENST00000520826	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8511	10.9886	0.47537	0.0874:0.0:0.9126:0.0	.	.	.	.	X	174;69;174;41;69;174;166	.	ENSP00000383592:C69X	C	-	3	2	GFRA2	21652652	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.934000	0.63491	2.197000	0.70478	0.313000	0.20887	TGC		0.617	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		T	21608372	G	T	21608372	4	4	29	1	0	0	0	0	0	1	0	0	6350	1311	46	4	896	4	GFRA2	8	21608372	Nonsense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	1798969	21608372	124755650	38	2061											
ENTPD4	9583	hgsc.bcm.edu	37	8	23294697	23294697	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr8:23294697T>C	ENST00000358689.4	-	10	1359	c.1124A>G	c.(1123-1125)gAt>gGt	p.D375G	ENTPD4_ENST00000356206.6_Missense_Mutation_p.D367G|ENTPD4_ENST00000417069.2_Missense_Mutation_p.D367G|ENTPD4_ENST00000521321.1_5'Flank	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	375					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CTGGATTTCATCTTTAATGTC	0.458																																																0													138	110	119					8																	23294697		2203	4300	6503	SO:0001583	missense	9583			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1124A>G	chr8.hg19:g.23294697T>C	ENSP00000351520:p.Asp375Gly		D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	hg19	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813208	0.70912	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069	T;T;T	0.10763	2.84;2.84;2.84	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	L	0.39245	1.2	0.80722	D	1	P;P;P	0.36354	0.549;0.494;0.549	B;B;B	0.40444	0.329;0.221;0.329	T	0.09271	-1.0682	10	0.31617	T	0.26	-26.8762	14.5422	0.68002	0.0:0.0:0.0:1.0	.	367;367;375	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	G	367;375;367	ENSP00000348536:D367G;ENSP00000351520:D375G;ENSP00000408573:D367G	ENSP00000348536:D367G	D	-	2	0	ENTPD4	23350642	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.698000	0.84413	2.120000	0.65058	0.260000	0.18958	GAT		0.458	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		C	23294697	T	C	23294697	3	2	29	1	0	0	0	0	1	0	0	0	5143	1435	50	3	742	3	ENTPD4	8	23294697	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	1686325	23294697	123069325	39	2062											
NDUFB9	4715	hgsc.bcm.edu	37	8	125562081	125562081	+	Nonsense_Mutation	SNP	T	T	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr8:125562081T>A	ENST00000276689.3	+	4	572	c.488T>A	c.(487-489)tTg>tAg	p.L163*	NDUFB9_ENST00000517830.1_Intron|NDUFB9_ENST00000522532.1_Intron|NDUFB9_ENST00000517367.1_Nonsense_Mutation_p.L152*	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	163					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAGGTGATTTGCCCCCACTG	0.522																																																0													69	62	65					8																	125562081		2203	4300	6503	SO:0001587	stop_gained	4715			AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7704	protein-coding gene	gene with protein product	"complex I B22 subunit"	601445	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.488T>A	chr8.hg19:g.125562081T>A	ENSP00000276689:p.Leu163*		B2R8M6|Q9UQE8	Nonsense_Mutation	SNP	ENST00000276689.3	hg19	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	T	36	5.696320	0.96802	.	.	ENSG00000147684	ENST00000276689;ENST00000517367	.	.	.	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3291	15.004	0.71498	0.0:0.0:0.0:1.0	.	.	.	.	X	163;152	.	ENSP00000276689:L163X	L	+	2	0	NDUFB9	125631262	1.000000	0.71417	0.989000	0.46669	0.961000	0.63080	7.437000	0.80417	2.018000	0.59344	0.260000	0.18958	TTG		0.522	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		A	125562081	T	A	125562081	4	1	29	1	0	0	0	0	0	1	0	0	10290	1821	63	5	502	5	NDUFB9	8	125562081	Nonsense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	102267384	125562081	20801941	40	2063											
NAPRT1	642475	hgsc.bcm.edu	37	8	144657205	144657205	+	5'Flank	SNP	C	C	T	rs552997428		TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr8:144657205C>T	ENST00000398882.3	-	0	0				NAPRT1_ENST00000449291.2_Missense_Mutation_p.S502N|NAPRT1_ENST00000435154.3_3'UTR|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000276844.7_Missense_Mutation_p.S502N|NAPRT1_ENST00000426292.3_Missense_Mutation_p.S489N	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		GCTGAGTCGGCTCAGGGACAG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		17051	0.001		0.0	False		,,,				2504	0.0															0													30	32	31					8																	144657205		692	1591	2283	SO:0001631	upstream_gene_variant	93100			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		chr8.hg19:g.144657205C>T	Exception_encountered		A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	hg19	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576030	0.45902	.	.	ENSG00000147813	ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T	0.43294	0.98;0.95;0.96;0.97	5.69	3.91	0.45181	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.431641	0.29791	N	0.011181	T	0.22003	0.0530	N	0.13168	0.305	0.27755	N	0.944011	B;B;B	0.13594	0.008;0.001;0.003	B;B;B	0.11329	0.006;0.002;0.001	T	0.19321	-1.0309	10	0.15066	T	0.55	-6.2117	7.5749	0.27931	0.0:0.7303:0.0:0.2697	.	502;489;502	G5E977;Q6XQN6-3;Q6XQN6	.;.;PNCB_HUMAN	N	502;502;489;502	ENSP00000401508:S502N;ENSP00000341136:S502N;ENSP00000390949:S489N;ENSP00000276844:S502N	ENSP00000276844:S502N	S	-	2	0	NAPRT1	144728348	0.049000	0.20398	0.756000	0.31282	0.644000	0.38419	0.196000	0.17176	0.764000	0.33197	0.655000	0.94253	AGC		0.662	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		T	144657205	C	T	144657205	1	4	29	0	1	0	0	0	0	0	0	0	10167	797	28	2		2	NAPRT1	8	144657205	5'Flank	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	19095124	144657205	1706817	41	2064											
PRSS3	5646	hgsc.bcm.edu	37	9	33797999	33797999	+	Missense_Mutation	SNP	A	A	G	rs142141488		TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr9:33797999A>G	ENST00000361005.5	+	3	544	c.544A>G	c.(544-546)Acc>Gcc	p.T182A	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.T139A|PRSS3_ENST00000379405.3_Missense_Mutation_p.T125A|PRSS3_ENST00000429677.3_Missense_Mutation_p.T118A	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	182	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCGCGTGTCCACCATCTCTCT	0.567																																																0													206	156	173					9																	33797999		2203	4300	6503	SO:0001583	missense	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.544A>G	chr9.hg19:g.33797999A>G	ENSP00000354280:p.Thr182Ala		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	hg19	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.538604	0.27475	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	T;T;D;T;D	0.92699	0.32;0.23;-3.09;0.32;-3.09	3.62	-7.24	0.01475	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.484707	0.25543	N	0.029949	T	0.73024	0.3534	N	0.04686	-0.185	0.24520	N	0.994162	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.002;0.006;0.002	T	0.61242	-0.7102	10	0.44086	T	0.13	.	1.0734	0.01627	0.2023:0.3189:0.2612:0.2176	.	125;182;139	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	A	182;137;139;118;125	ENSP00000354280:T182A;ENSP00000401249:T137A;ENSP00000340889:T139A;ENSP00000401828:T118A;ENSP00000368715:T125A	ENSP00000340889:T139A	T	+	1	0	PRSS3	33787999	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	-0.041000	0.12084	-2.179000	0.00767	0.260000	0.18958	ACC		0.567	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		G	33797999	A	G	33797999	3	3	29	1	0	0	0	0	1	0	0	0	12627	159	6	3	598	3	PRSS3	9	33797999	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10		33797999	107415432	42	2065											
C9orf170	401535	hgsc.bcm.edu	37	9	89763782	89763782	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr9:89763782C>G	ENST00000375941.2	+	1	224	c.137C>G	c.(136-138)tCc>tGc	p.S46C		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	46										large_intestine(3)|lung(2)|prostate(1)	6						GGCCTGGCCTCCTGCTCAGTC	0.602																																																0													31	34	33					9																	89763782		2202	4299	6501	SO:0001583	missense	401535			AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.137C>G	chr9.hg19:g.89763782C>G	ENSP00000365108:p.Ser46Cys			Missense_Mutation	SNP	ENST00000375941.2	hg19	CCDS35058.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145880	0.37923	.	.	ENSG00000204446	ENST00000375941	.	.	.	4.38	0.178	0.15058	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	P	0.35844	0.524	B	0.35550	0.205	T	0.17349	-1.0372	8	0.87932	D	0	.	3.1347	0.06435	0.1702:0.4021:0.3314:0.0963	.	46	A2RU37	CI170_HUMAN	C	46	.	ENSP00000365108:S46C	S	+	2	0	C9orf170	88953602	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	0.031000	0.13710	0.038000	0.15604	-0.176000	0.13171	TCC		0.602	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709		G	89763782	C	G	89763782	3	3	29	1	0	0	0	0	1	0	0	0	2471	855	30	4	139	4	C9orf170	9	89763782	Missense_Mutation	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	55965783	89763782	51449649	43	2066											
OGN	4969	hgsc.bcm.edu	37	9	95165578	95165578	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr9:95165578A>G	ENST00000262551.4	-	2	532	c.112T>C	c.(112-114)Ttt>Ctt	p.F38L	OGN_ENST00000375561.5_Missense_Mutation_p.F38L|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	38					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GATTCTTCAAAATTATCTGTT	0.358																																																0													76	76	76					9																	95165578		2203	4300	6503	SO:0001583	missense	4969			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8126	protein-coding gene	gene with protein product	"mimecan proteoglycan"	602383	"osteoglycin (osteoinductive factor)"			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.112T>C	chr9.hg19:g.95165578A>G	ENSP00000262551:p.Phe38Leu		Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	ENST00000262551.4	hg19	CCDS6695.1	.	.	.	.	.	.	.	.	.	.	A	9.224	1.034153	0.19590	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	T;T;T	0.59083	0.29;0.29;0.31	5.55	4.41	0.53225	.	0.508491	0.20017	N	0.100983	T	0.32852	0.0843	N	0.12182	0.205	0.19945	N	0.999942	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18808	-1.0325	10	0.11182	T	0.66	.	7.0374	0.25000	0.7748:0.1478:0.0774:0.0	.	96;38	B4DI63;P20774	.;MIME_HUMAN	L	38;38;96	ENSP00000262551:F38L;ENSP00000364711:F38L;ENSP00000396709:F96L	ENSP00000262551:F38L	F	-	1	0	OGN	94205399	0.011000	0.17503	0.869000	0.34112	0.689000	0.40095	0.790000	0.26900	1.058000	0.40530	0.533000	0.62120	TTT		0.358	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1	NM_024416		G	95165578	A	G	95165578	3	3	29	1	0	0	0	0	1	0	0	0	10848	14	1	3	808	3	OGN	9	95165578	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10	5401796	95165578	46047853	44	2067											
LRRC8A	56262	hgsc.bcm.edu	37	9	131670150	131670150	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr9:131670150A>T	ENST00000259324.5	+	3	1230	c.707A>T	c.(706-708)gAg>gTg	p.E236V	LRRC8A_ENST00000372599.3_Missense_Mutation_p.E236V|LRRC8A_ENST00000372600.4_Missense_Mutation_p.E236V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	236					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GACAAGAAGGAGGGGGAGCAA	0.617																																																0													112	107	109					9																	131670150		2203	4300	6503	SO:0001583	missense	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.707A>T	chr9.hg19:g.131670150A>T	ENSP00000259324:p.Glu236Val		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	hg19	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.964061	0.53507	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.37584	1.19;1.19;1.19	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60650	0.2285	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65434	-0.6169	10	0.87932	D	0	.	14.6237	0.68605	1.0:0.0:0.0:0.0	.	236	Q8IWT6	LRC8A_HUMAN	V	236	ENSP00000361682:E236V;ENSP00000361680:E236V;ENSP00000259324:E236V	ENSP00000259324:E236V	E	+	2	0	LRRC8A	130709971	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	9.339000	0.96797	2.052000	0.61016	0.460000	0.39030	GAG		0.617	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		T	131670150	A	T	131670150	3	4	29	1	0	0	0	0	1	0	0	0	9023	304	11	5	709	5	LRRC8A	9	131670150	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10	36504572	131670150	9543281	45	2068											
ZNF438	220929	hgsc.bcm.edu	37	10	31138561	31138561	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr10:31138561T>G	ENST00000361310.3	-	6	1102	c.773A>C	c.(772-774)aAa>aCa	p.K258T	ZNF438_ENST00000442986.1_Missense_Mutation_p.K258T|ZNF438_ENST00000452305.1_Missense_Mutation_p.K248T|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000413025.1_Missense_Mutation_p.K258T|ZNF438_ENST00000444692.2_Missense_Mutation_p.K248T|ZNF438_ENST00000331737.6_Missense_Mutation_p.K248T|ZNF438_ENST00000538351.2_Missense_Mutation_p.K209T|ZNF438_ENST00000436087.2_Missense_Mutation_p.K258T			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	258					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TTCTTTAAATTTTTCACTGGC	0.428																																																0													179	176	177					10																	31138561		2203	4300	6503	SO:0001583	missense	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.773A>C	chr10.hg19:g.31138561T>G	ENSP00000354663:p.Lys258Thr		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	hg19	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.560611	0.45590	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.13196	2.61;2.62;2.62;2.62;2.62;2.61;2.61;2.62	4.91	2.41	0.29592	.	0.419792	0.29956	N	0.010780	T	0.13927	0.0337	M	0.62723	1.935	0.09310	N	1	P;P	0.38922	0.651;0.557	B;B	0.39419	0.216;0.299	T	0.15065	-1.0450	10	0.72032	D	0.01	-4.3	4.4384	0.11561	0.0:0.1749:0.1693:0.6558	.	258;248	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	T	248;258;258;258;258;248;248;209	ENSP00000333571:K248T;ENSP00000354663:K258T;ENSP00000406934:K258T;ENSP00000412363:K258T;ENSP00000387546:K258T;ENSP00000413060:K248T;ENSP00000410898:K248T;ENSP00000445461:K209T	ENSP00000333571:K248T	K	-	2	0	ZNF438	31178567	0.118000	0.22208	0.001000	0.08648	0.032000	0.12392	2.262000	0.43285	0.744000	0.32741	0.533000	0.62120	AAA		0.428	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		G	31138561	T	G	31138561	3	3	29	1	0	0	0	0	1	0	0	0	17915	1841	64	5	1721	5	ZNF438	10	31138561	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10		31138561	104396186	46	2069											
PANK1	53354	hgsc.bcm.edu	37	10	91404533	91404533	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr10:91404533G>A	ENST00000307534.4	-	1	682	c.527C>T	c.(526-528)cCa>cTa	p.P176L	PANK1_ENST00000322191.6_5'Flank|RP11-80H5.2_ENST00000454174.1_RNA|RP11-80H5.6_ENST00000428166.1_lincRNA|PANK1_ENST00000488482.1_5'Flank|PANK1_ENST00000342512.3_5'Flank|PANK1_ENST00000371774.2_5'Flank|RP11-80H5.2_ENST00000451733.1_RNA	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	176					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						CGGCTGGACTGGCGGCGGATG	0.766																																																0													1	2	2					10																	91404533		1059	2515	3574	SO:0001583	missense	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.527C>T	chr10.hg19:g.91404533G>A	ENSP00000302108:p.Pro176Leu		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	hg19	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	G	8.772	0.926188	0.18056	.	.	ENSG00000152782	ENST00000307534;ENST00000371775	D	0.99527	-6.09	4.66	3.75	0.43078	.	0.812759	0.10685	N	0.645879	D	0.97436	0.9161	N	0.19112	0.55	0.52099	D	0.999943	B	0.06786	0.001	B	0.04013	0.001	D	0.94700	0.7882	10	0.54805	T	0.06	.	10.7307	0.46096	0.095:0.0:0.905:0.0	.	176	Q8TE04	PANK1_HUMAN	L	176;39	ENSP00000302108:P176L	ENSP00000302108:P176L	P	-	2	0	PANK1	91394513	0.564000	0.26602	0.018000	0.16275	0.029000	0.11900	1.493000	0.35605	0.953000	0.37825	0.561000	0.74099	CCA		0.766	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	91404533	G	A	91404533	3	1	29	1	0	0	0	0	1	0	0	0	11418	1348	47	2	1329	2	PANK1	10	91404533	Missense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	60265972	91404533	44130214	47	2070											
MXI1	4601	hgsc.bcm.edu	37	10	112044605	112044605	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr10:112044605A>T	ENST00000239007.7	+	6	765	c.547A>T	c.(547-549)Agc>Tgc	p.S183C	MXI1_ENST00000393134.1_Missense_Mutation_p.S173C|MXI1_ENST00000332674.5_Missense_Mutation_p.S250C|MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000369612.1_Missense_Mutation_p.S147C|MXI1_ENST00000361248.4_Missense_Mutation_p.S137C	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	183					cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGATGTTGAAAGCACAGAGTT	0.433																																																0													98	85	89					10																	112044605		2203	4300	6503	SO:0001583	missense	4601			BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7534	protein-coding gene	gene with protein product		600020	"MAX interacting protein 1", "MAX interactor 1"			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.547A>T	chr10.hg19:g.112044605A>T	ENSP00000239007:p.Ser183Cys		B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Missense_Mutation	SNP	ENST00000239007.7	hg19	CCDS7564.2	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610744	0.66558	.	.	ENSG00000119950	ENST00000332674;ENST00000361248;ENST00000239007;ENST00000369619;ENST00000393134;ENST00000369614;ENST00000369613;ENST00000369612	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.87578	0.993;0.997;0.993;0.998	T	0.59369	-0.7467	10	0.72032	D	0.01	-12.6328	16.4439	0.83910	1.0:0.0:0.0:0.0	.	173;147;183;250	B1ANN8;P50539-2;P50539;P50539-3	.;.;MXI1_HUMAN;.	C	250;137;183;173;173;147;147;147	ENSP00000331152:S250C;ENSP00000354606:S137C;ENSP00000239007:S183C;ENSP00000376842:S173C;ENSP00000358625:S147C	ENSP00000239007:S183C	S	+	1	0	MXI1	112034595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.138000	0.77305	2.282000	0.76494	0.533000	0.62120	AGC		0.433	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439		T	112044605	A	T	112044605	3	4	29	1	0	0	0	0	1	0	0	0	10004	72	3	5	847	5	MXI1	10	112044605	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10	20640072	112044605	23490142	48	2071											
HSPA12A	259217	hgsc.bcm.edu	37	10	118440687	118440687	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr10:118440687G>T	ENST00000369209.3	-	9	1107	c.1003C>A	c.(1003-1005)Ctt>Att	p.L335I		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	335						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AGTTCCTTAAGGTGTCCCTCC	0.488																																																0													99	104	102					10																	118440687		1989	4169	6158	SO:0001583	missense	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1003C>A	chr10.hg19:g.118440687G>T	ENSP00000358211:p.Leu335Ile			Missense_Mutation	SNP	ENST00000369209.3	hg19	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441640	0.63067	.	.	ENSG00000165868	ENST00000369209	T	0.31510	1.49	5.78	4.86	0.63082	.	0.125530	0.53938	D	0.000050	T	0.37046	0.0989	L	0.37466	1.105	0.45930	D	0.998764	P	0.45396	0.857	P	0.49999	0.628	T	0.18493	-1.0335	10	0.62326	D	0.03	.	16.0591	0.80826	0.0:0.0:0.8648:0.1352	.	335	O43301	HS12A_HUMAN	I	335	ENSP00000358211:L335I	ENSP00000358211:L335I	L	-	1	0	HSPA12A	118430677	1.000000	0.71417	0.964000	0.40570	0.743000	0.42351	5.429000	0.66495	1.420000	0.47138	0.655000	0.94253	CTT		0.488	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		T	118440687	G	T	118440687	3	4	29	1	0	0	0	0	1	0	0	0	7406	1000	35	4	1040	4	HSPA12A	10	118440687	Missense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	6396082	118440687	17094060	49	2072											
NAP1L4	4676	hgsc.bcm.edu	37	11	2970489	2970489	+	Nonstop_Mutation	SNP	T	T	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr11:2970489T>G	ENST00000380542.4	-	15	1268	c.1128A>C	c.(1126-1128)taA>taC	p.*376Y	NAP1L4_ENST00000469089.1_5'UTR|NAP1L4_ENST00000526115.1_Intron	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	0					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CAGACAAAAATTACACCTAAA	0.328																																																0													75	67	69					11																	2970489		1834	4086	5920	SO:0001578	stop_lost	4676			AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.1128A>C	chr11.hg19:g.2970489T>G			B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	hg19	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669728	0.29693	.	.	ENSG00000205531	ENST00000380542	.	.	.	4.07	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7709	0.51958	0.0:0.0:0.0:1.0	.	.	.	.	Y	376	.	.	X	-	3	2	NAP1L4	2927065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.761000	0.62243	1.717000	0.51406	0.533000	0.62120	TAA		0.328	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969		G	2970489	T	G	2970489	4	3	29	1	0	0	0	0	0	0	0	0	10161	1500	52	5	3	5	NAP1L4	11	2970489	Nonstop_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10		2970489	132036027	50	2073											
GLB1L3	112937	hgsc.bcm.edu	37	11	134147653	134147653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr11:134147653delC	ENST00000431683.2	+	3	209	c.209delC	c.(208-210)actfs	p.T70fs	GLB1L3_ENST00000389887.5_Frame_Shift_Del_p.T70fs	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	70					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GGACTTGGAACTGAAAGCACA	0.567																																																0													38	43	41					11																	134147653		2196	4296	6492	SO:0001589	frameshift_variant	112937				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.209delC	chr11.hg19:g.134147653delC	ENSP00000396615:p.Thr70fs		A6NEM0|A6NN15|Q6P3S3|Q96FF8	Frame_Shift_Del	DEL	ENST00000431683.2	hg19	CCDS44780.1																																																																																				0.567	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		-	134147653	C	-	134147653	7	5	29	1	0	1	0	1	0	0	0	0	6432	565	20	0	219	0	GLB1L3	11	134147653	Frame_Shift_Del	DEL	C	TCGA-5P-A9JW-01A-11D-A42J-10	131177164	134147653	858863	51	2074											
CLSTN3	9746	hgsc.bcm.edu	37	12	7303653	7303653	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr12:7303653A>T	ENST00000266546.6	+	16	2971	c.2521A>T	c.(2521-2523)Aac>Tac	p.N841Y	CLSTN3_ENST00000537408.1_Missense_Mutation_p.N853Y	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	841					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCCCACAGAAACTCCAGTAC	0.652																																																0													21	21	21					12																	7303653		2202	4300	6502	SO:0001583	missense	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2521A>T	chr12.hg19:g.7303653A>T	ENSP00000266546:p.Asn841Tyr		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	hg19	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	8.415	0.845014	0.16963	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.35789	1.29;1.29	5.52	5.52	0.82312	.	0.098878	0.64402	D	0.000002	T	0.36635	0.0974	L	0.29908	0.895	0.50632	D	0.999881	D;B	0.61080	0.989;0.263	P;B	0.50490	0.642;0.091	T	0.09530	-1.0670	10	0.40728	T	0.16	-42.2086	14.2234	0.65843	1.0:0.0:0.0:0.0	.	853;841	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	Y	841;853	ENSP00000266546:N841Y;ENSP00000440679:N853Y	ENSP00000266546:N841Y	N	+	1	0	CLSTN3	7194920	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	8.553000	0.90686	2.086000	0.62901	0.459000	0.35465	AAC		0.652	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		T	7303653	A	T	7303653	3	4	29	1	0	0	0	0	1	0	0	0	3565	14	1	5	2583	5	CLSTN3	12	7303653	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10		7303653	126548242	52	2075											
ACSM4	341392	hgsc.bcm.edu	37	12	7476144	7476144	+	Silent	SNP	C	C	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr12:7476144C>T	ENST00000399422.4	+	9	1344	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	432					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TCTGTTTCTTCTCTAAATAtg	0.413																																																0													62	60	61					12																	7476144		1832	4080	5912	SO:0001819	synonymous_variant	341392				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1296C>T	chr12.hg19:g.7476144C>T			A8MTI6	Silent	SNP	ENST00000399422.4	hg19	CCDS44825.1																																																																																				0.413	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		T	7476144	C	T	7476144	2	4	29	1	0	0	0	0	0	0	0	1	186	912	32	2		2	ACSM4	12	7476144	Silent	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	172491	7476144	126375751	53	2076											
KRT1	3848	hgsc.bcm.edu	37	12	53069229	53069229	+	Silent	SNP	G	G	A	rs540699806|rs267607656	byFrequency	TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr12:53069229G>A	ENST00000252244.3	-	9	1741	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	561	Gly/Ser-rich.|Tail.		Missing (in allele 1B). {ECO:0000269|PubMed:1281859}.		complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tgccacctccggagccgtagc	0.692																																																0													4	4	4					12																	53069229		1797	3656	5453	SO:0001819	synonymous_variant	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1683C>T	chr12.hg19:g.53069229G>A			B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	hg19	CCDS8836.1																																																																																				0.692	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		A	53069229	G	A	53069229	2	1	29	1	0	0	0	0	0	0	0	1	8449	1103	39	1		1	KRT1	12	53069229	Silent	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	45593085	53069229	80782666	54	2077											
PAN2	9924	hgsc.bcm.edu	37	12	56722345	56722360	+	Frame_Shift_Del	DEL	CTGCCGAATATCATCA	CTGCCGAATATCATCA	-			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	CTGCCGAATATCATCA	CTGCCGAATATCATCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr12:56722345_56722360delCTGCCGAATATCATCA	ENST00000425394.2	-	3	724_739	c.348_363delTGATGATATTCGGCAG	c.(346-363)agtgatgatattcggcagfs	p.SDDIRQ116fs	PAN2_ENST00000440411.3_Frame_Shift_Del_p.SDDIRQ116fs|PAN2_ENST00000548043.1_Frame_Shift_Del_p.SDDIRQ116fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.SDDIRQ116fs	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GGCTCTGGATCTGCCGAATATCATCACTGCCATTGA	0.463																																																0																																										SO:0001589	frameshift_variant	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.348_363delTGATGATATTCGGCAG	chr12.hg19:g.56722345_56722360delCTGCCGAATATCATCA	ENSP00000401721:p.Ser116fs			Frame_Shift_Del	DEL	ENST00000425394.2	hg19	CCDS44922.1																																																																																				0.463	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		-	56722360	CTGCCGAATATCATCA	-	56722345	7	5	29	1	0	1	0	1	0	0	0	0	11416	912	32	0	3341	0	PAN2	12	56722345	Frame_Shift_Del	DEL	CTGCCGAATATCATCA	TCGA-5P-A9JW-01A-11D-A42J-10	3653116	56722345	77129550	55	2078											
EEA1	8411	hgsc.bcm.edu	37	12	93210107	93210107	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr12:93210107C>A	ENST00000322349.8	-	15	2062	c.1798G>T	c.(1798-1800)Gac>Tac	p.D600Y		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	600	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGTACCTGGTCATGCAAATTC	0.388																																																0													251	218	229					12																	93210107		2203	4300	6503	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1798G>T	chr12.hg19:g.93210107C>A	ENSP00000317955:p.Asp600Tyr		Q14221	Missense_Mutation	SNP	ENST00000322349.8	hg19	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422447	0.62622	.	.	ENSG00000102189	ENST00000322349	T	0.46819	0.86	5.27	5.27	0.74061	.	0.109285	0.39146	N	0.001443	T	0.44371	0.1290	N	0.14661	0.345	0.42441	D	0.992715	D	0.57257	0.979	P	0.50490	0.642	T	0.52939	-0.8508	10	0.72032	D	0.01	.	18.8732	0.92324	0.0:1.0:0.0:0.0	.	600	Q15075	EEA1_HUMAN	Y	600	ENSP00000317955:D600Y	ENSP00000317955:D600Y	D	-	1	0	EEA1	91734238	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	5.668000	0.68074	2.473000	0.83533	0.313000	0.20887	GAC		0.388	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		A	93210107	C	A	93210107	3	1	29	1	0	0	0	0	1	0	0	0	4923	826	29	4	2497	4	EEA1	12	93210107	Missense_Mutation	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	36487762	93210107	40641788	56	2079											
NCOR2	9612	hgsc.bcm.edu	37	12	124846815	124846815	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr12:124846815C>A	ENST00000405201.1	-	22	2957	c.2957G>T	c.(2956-2958)cGg>cTg	p.R986L	NCOR2_ENST00000404621.1_Missense_Mutation_p.R968L|NCOR2_ENST00000356219.3_Missense_Mutation_p.R985L|NCOR2_ENST00000397355.1_Missense_Mutation_p.R969L|NCOR2_ENST00000404121.2_Missense_Mutation_p.R539L|NCOR2_ENST00000429285.2_Missense_Mutation_p.R968L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	986					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGCGTCCTCCCGGGGGGGCTC	0.652																																																0													13	17	16					12																	124846815		2057	4192	6249	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2957G>T	chr12.hg19:g.124846815C>A	ENSP00000384018:p.Arg986Leu		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	hg19	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523460	0.27299	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.28666	2.24;2.56;2.26;2.56;2.28;2.55;1.6	4.91	3.09	0.35607	.	0.443732	0.21379	N	0.075504	T	0.35970	0.0950	L	0.51422	1.61	0.28323	N	0.922137	D;D;D	0.57571	0.974;0.967;0.98	P;P;P	0.53861	0.628;0.549;0.736	T	0.13818	-1.0495	10	0.28530	T	0.3	-22.5278	8.6723	0.34159	0.0:0.8183:0.0:0.1817	.	968;969;986	C9J0Q5;C9J239;C9JFD3	.;.;.	L	986;968;985;969;985;539;968;986	ENSP00000384018:R986L;ENSP00000384202:R968L;ENSP00000348551:R985L;ENSP00000380513:R969L;ENSP00000385618:R539L;ENSP00000400281:R968L;ENSP00000402808:R986L	ENSP00000348551:R985L	R	-	2	0	NCOR2	123412768	1.000000	0.71417	0.992000	0.48379	0.124000	0.20399	1.273000	0.33121	0.504000	0.28082	-0.448000	0.05591	CGG		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		A	124846815	C	A	124846815	3	1	29	1	0	0	0	0	1	0	0	0	10238	652	23	4	4715	4	NCOR2	12	124846815	Missense_Mutation	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	31636708	124846815	9005080	57	2080											
METT11D1	64745	hgsc.bcm.edu	37	14	21463350	21463350	+	Silent	SNP	T	T	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr14:21463350T>A	ENST00000339374.6	+	10	1136	c.903T>A	c.(901-903)gcT>gcA	p.A301A	METTL17_ENST00000556670.2_Silent_p.A301A|METTL17_ENST00000382985.4_Silent_p.A301A|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	301					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GAACAAAAGCTGGGCACAGCC	0.458																																																0													214	191	199					14																	21463350		2203	4300	6503	SO:0001819	synonymous_variant	64745			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.903T>A	chr14.hg19:g.21463350T>A			Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	hg19	CCDS9562.1																																																																																				0.458	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		A	21463350	T	A	21463350	2	1	29	1	0	0	0	0	0	0	0	1	9493	1567	55	5		5	METT11D1	14	21463350	Silent	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10		21463350	85886190	58	2081											
CHD8	57680	hgsc.bcm.edu	37	14	21868201	21868202	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr14:21868201_21868202AG>TA	ENST00000557364.1	-	25	5018_5019	c.4755_4756CT>TA	c.(4753-4758)taCTac>taTAac	p.Y1586N	SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.Y1307N|CHD8_ENST00000399982.2_Missense_Mutation_p.Y1586N			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1586					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGCCTCAGGTAGTATAGCATTC	0.441																																																0																																										SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4755_4756delinsTA	chr14.hg19:g.21868201_21868202delinsTA	ENSP00000451601:p.Tyr1586Asn		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation|Silent	SNP	ENST00000557364.1	hg19	CCDS53885.1																																																																																				0.441	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		TA	21868202	AG	TA	21868201	3	4	29	1	0	0	0	0	1	0	0	0	3333	420	15	5	3045	5	CHD8	14	21868201	Missense_Mutation	DNP	AG	TCGA-5P-A9JW-01A-11D-A42J-10	404851	21868201	85481339	59	2082											
WDHD1	11169	hgsc.bcm.edu	37	14	55451547	55451547	+	Silent	SNP	T	T	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr14:55451547T>C	ENST00000360586.3	-	15	1865	c.1800A>G	c.(1798-1800)ggA>ggG	p.G600G	WDHD1_ENST00000359167.4_Silent_p.G118G|WDHD1_ENST00000420358.2_Silent_p.G477G|WDHD1_ENST00000421192.1_Silent_p.G477G	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	600					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GCAGTTGAACTCCAAGGCACT	0.383																																																0													53	55	55					14																	55451547		2203	4300	6503	SO:0001819	synonymous_variant	11169			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1800A>G	chr14.hg19:g.55451547T>C			C9JW18|F6W0U7	Silent	SNP	ENST00000360586.3	hg19	CCDS9721.1																																																																																				0.383	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		C	55451547	T	C	55451547	2	2	29	1	0	0	0	0	0	0	0	1	17276	1538	54	3		3	WDHD1	14	55451547	Silent	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	33583346	55451547	51897993	60	2083											
C14orf115	55237	hgsc.bcm.edu	37	14	74825395	74825395	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr14:74825395G>A	ENST00000256362.4	+	2	2150	c.1909G>A	c.(1909-1911)Gat>Aat	p.D637N		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	637					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGGTGGCAGGGATGGCCGGAT	0.642																																																0													45	39	41					14																	74825395		2203	4300	6503	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1909G>A	chr14.hg19:g.74825395G>A	ENSP00000256362:p.Asp637Asn		Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	hg19	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	9.465	1.094217	0.20471	.	.	ENSG00000133980	ENST00000256362	T	0.49139	0.79	4.28	3.29	0.37713	.	0.386356	0.25156	U	0.032704	T	0.18341	0.0440	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17653	-1.0362	10	0.10902	T	0.67	-8.3907	3.9842	0.09507	0.2604:0.0:0.7396:0.0	.	637	Q9H8Y1	VRTN_HUMAN	N	637	ENSP00000256362:D637N	ENSP00000256362:D637N	D	+	1	0	VRTN	73895148	0.904000	0.30761	0.463000	0.27130	0.242000	0.25591	4.484000	0.60271	2.233000	0.73108	0.485000	0.47835	GAT		0.642	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		A	74825395	G	A	74825395	3	1	29	1	0	0	0	0	1	0	0	0	1742	1174	41	2	1911	2	C14orf115	14	74825395	Missense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	19373848	74825395	32524145	61	2084											
TJP1	7082	hgsc.bcm.edu	37	15	30001031	30001031	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr15:30001031T>C	ENST00000346128.6	-	25	5056	c.4582A>G	c.(4582-4584)Aca>Gca	p.T1528A	TJP1_ENST00000356107.6_Missense_Mutation_p.T1528A|TJP1_ENST00000400011.2_Missense_Mutation_p.T1452A|TJP1_ENST00000545208.2_Missense_Mutation_p.T1448A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1528					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGTTTTGGTGTGAATCGATTG	0.413																																					Melanoma(77;681 1843 6309 6570)											0													306	282	289					15																	30001031		1911	4145	6056	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4582A>G	chr15.hg19:g.30001031T>C	ENSP00000281537:p.Thr1528Ala		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	hg19	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321717	0.41096	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.47869	0.83;0.83	5.65	4.48	0.54585	.	0.158020	0.56097	D	0.000023	T	0.39759	0.1090	L	0.48362	1.52	0.80722	D	1	B;B;B;B	0.32350	0.366;0.264;0.025;0.264	B;B;B;B	0.31101	0.118;0.124;0.021;0.085	T	0.37150	-0.9718	10	0.48119	T	0.1	.	11.3701	0.49694	0.2304:0.0:0.0:0.7696	.	1521;1448;1528;1452	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	1528;1452;1528;1448;1448	ENSP00000281537:T1528A;ENSP00000382890:T1452A	ENSP00000281537:T1528A	T	-	1	0	TJP1	27788323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.604000	0.54081	2.371000	0.80710	0.533000	0.62120	ACA		0.413	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		C	30001031	T	C	30001031	3	2	29	1	0	0	0	0	1	0	0	0	15934	1696	59	3	680	3	TJP1	15	30001031	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10		30001031	72530361	62	2085											
PRTG	283659	hgsc.bcm.edu	37	15	55930800	55930800	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr15:55930800T>C	ENST00000389286.4	-	14	2446	c.2399A>G	c.(2398-2400)gAt>gGt	p.D800G		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GGAAAGCTGATCCACATGTAA	0.373																																																0													65	63	64					15																	55930800		1854	4105	5959	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2399A>G	chr15.hg19:g.55930800T>C	ENSP00000373937:p.Asp800Gly			Missense_Mutation	SNP	ENST00000389286.4	hg19	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.185993	0.38609	.	.	ENSG00000166450	ENST00000389286	T	0.51817	0.69	4.99	3.84	0.44239	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.061925	0.64402	D	0.000008	T	0.28962	0.0719	N	0.16708	0.43	0.80722	D	1	B	0.19331	0.035	B	0.12837	0.008	T	0.04991	-1.0913	10	0.22109	T	0.4	-13.4313	10.3573	0.43972	0.0:0.0789:0.0:0.9211	.	800	Q2VWP7	PRTG_HUMAN	G	800	ENSP00000373937:D800G	ENSP00000373937:D800G	D	-	2	0	PRTG	53718092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.882000	0.48546	0.822000	0.34565	0.477000	0.44152	GAT		0.373	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		C	55930800	T	C	55930800	3	2	29	1	0	0	0	0	1	0	0	0	12643	1435	50	3	1081	3	PRTG	15	55930800	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	25929769	55930800	46600592	63	2086											
CCNB2	9133	hgsc.bcm.edu	37	15	59417066	59417066	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr15:59417066G>A	ENST00000288207.2	+	9	1378	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	CCNB2_ENST00000559622.1_Missense_Mutation_p.G268E|RP11-59H7.3_ENST00000559026.1_RNA	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	396					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						CCACTGATAGGAAGGTCCTAG	0.478																																																0													74	58	63					15																	59417066		2191	4291	6482	SO:0001583	missense	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.1187G>A	chr15.hg19:g.59417066G>A	ENSP00000288207:p.Gly396Glu		B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	hg19	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125044	0.37533	.	.	ENSG00000157456	ENST00000288207	T	0.14516	2.5	5.85	1.77	0.24775	.	0.708046	0.14437	N	0.319603	T	0.11324	0.0276	L	0.40543	1.245	0.21719	N	0.999575	B;B	0.24258	0.1;0.1	B;B	0.21151	0.033;0.014	T	0.22068	-1.0227	10	0.49607	T	0.09	.	8.4873	0.33078	0.1126:0.2451:0.6423:0.0	.	396;396	Q53HG9;O95067	.;CCNB2_HUMAN	E	396	ENSP00000288207:G396E	ENSP00000288207:G396E	G	+	2	0	CCNB2	57204358	0.464000	0.25807	0.005000	0.12908	0.017000	0.09413	0.702000	0.25631	0.076000	0.16826	0.561000	0.74099	GGA		0.478	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		A	59417066	G	A	59417066	3	1	29	1	0	0	0	0	1	0	0	0	2915	1174	41	2	1221	2	CCNB2	15	59417066	Missense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	3486266	59417066	43114326	64	2087											
VPS13C	54832	hgsc.bcm.edu	37	15	62221902	62221902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr15:62221902delA	ENST00000261517.5	-	51	6157	c.6084delT	c.(6082-6084)attfs	p.I2028fs	VPS13C_ENST00000395896.4_Frame_Shift_Del_p.I2028fs|VPS13C_ENST00000395898.3_Frame_Shift_Del_p.I1985fs|VPS13C_ENST00000249837.3_Frame_Shift_Del_p.I1985fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACTTATATCAATCATAGAAC	0.313																																																0													166	143	151					15																	62221902		2203	4300	6503	SO:0001589	frameshift_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6084delT	chr15.hg19:g.62221902delA	ENSP00000261517:p.Ile2028fs			Frame_Shift_Del	DEL	ENST00000261517.5	hg19	CCDS32257.1																																																																																				0.313	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		-	62221902	A	-	62221902	7	5	29	1	0	1	0	1	0	0	0	0	17196	126	5	0	5345	0	VPS13C	15	62221902	Frame_Shift_Del	DEL	A	TCGA-5P-A9JW-01A-11D-A42J-10	2804836	62221902	40309490	65	2088											
HERC1	8925	hgsc.bcm.edu	37	15	64047449	64047449	+	Nonsense_Mutation	SNP	C	C	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr15:64047449C>A	ENST00000443617.2	-	6	1696	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	537					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAGTCTCCTTCACCCCATGTG	0.378																																																0													93	83	86					15																	64047449		1913	4119	6032	SO:0001587	stop_gained	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1609G>T	chr15.hg19:g.64047449C>A	ENSP00000390158:p.Glu537*		Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	39	7.360880	0.98235	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.0492	0.97617	0.0:1.0:0.0:0.0	.	.	.	.	X	537	.	ENSP00000390158:E537X	E	-	1	0	HERC1	61834502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	GAA		0.378	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		A	64047449	C	A	64047449	4	1	29	1	0	0	0	0	0	1	0	0	7059	835	29	4	13268	4	HERC1	15	64047449	Nonsense_Mutation	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	1825547	64047449	38483943	66	2089											
EME2	197342	hgsc.bcm.edu	37	16	1823724	1823724	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr16:1823724G>A	ENST00000568449.1	+	2	287	c.266G>A	c.(265-267)gGt>gAt	p.G89D	MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_Missense_Mutation_p.G89D|NME3_ENST00000219302.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	89					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAAGACGCCGGTGCCGACGTC	0.751								Direct reversal of damage;Homologous recombination																																								0													6	4	4					16																	1823724		1756	3568	5324	SO:0001583	missense	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.266G>A	chr16.hg19:g.1823724G>A	ENSP00000457353:p.Gly89Asp		Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	hg19	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223506	0.58668	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	T	0.25749	1.78	3.56	3.56	0.40772	ERCC4 domain (2);	0.000000	0.42294	U	0.000733	T	0.49236	0.1545	.	.	.	0.54753	D	0.999982	D	0.89917	1.0	D	0.77004	0.989	T	0.53236	-0.8467	9	0.48119	T	0.1	-9.3726	14.1144	0.65144	0.0:0.0:1.0:0.0	.	89	A4GXA9	EME2_HUMAN	D	89	ENSP00000303779:G89D	ENSP00000303779:G89D	G	+	2	0	EME2	1763725	1.000000	0.71417	0.013000	0.15412	0.808000	0.45660	4.916000	0.63362	1.707000	0.51288	0.306000	0.20318	GGT		0.751	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		A	1823724	G	A	1823724	3	1	29	1	0	0	0	0	1	0	0	0	5091	1261	44	2	272	2	EME2	16	1823724	Missense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10		1823724	88531029	67	2090											
GSPT1	2935	hgsc.bcm.edu	37	16	11980375	11980375	+	Silent	SNP	A	A	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr16:11980375A>G	ENST00000563468.1	-	7	818	c.792T>C	c.(790-792)ctT>ctC	p.L264L	GSPT1_ENST00000439887.2_Silent_p.L401L|GSPT1_ENST00000420576.2_Silent_p.L264L|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Silent_p.L402L|GSPT1_ENST00000564790.1_5'UTR			P15170	ERF3A_HUMAN	G1 to S phase transition 1	264	G5. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTGCTCCAGTAAGTCCTGAGC	0.353																																																0													84	82	83					16																	11980375		1956	4168	6124	SO:0001819	synonymous_variant	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.792T>C	chr16.hg19:g.11980375A>G			J3KQG6|Q96GF2	Silent	SNP	ENST00000563468.1	hg19	CCDS45414.1																																																																																				0.353	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		G	11980375	A	G	11980375	2	3	29	1	0	0	0	0	0	0	0	1	6828	349	13	3		3	GSPT1	16	11980375	Silent	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10	10156651	11980375	78374378	68	2091											
ACSM2B	348158	hgsc.bcm.edu	37	16	20570646	20570646	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr16:20570646A>G	ENST00000329697.6	-	3	469	c.301T>C	c.(301-303)Tgt>Cgt	p.C101R	ACSM2B_ENST00000567001.1_Missense_Mutation_p.C101R|ACSM2B_ENST00000565232.1_Missense_Mutation_p.C101R|ACSM2B_ENST00000414188.2_Missense_Mutation_p.C101R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.C22R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	101					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGCAGGCCACAGGCTCCCGAG	0.577																																																0													42	33	36					16																	20570646		2201	4300	6501	SO:0001583	missense	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.301T>C	chr16.hg19:g.20570646A>G	ENSP00000327453:p.Cys101Arg		Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	hg19	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455754	0.26161	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.45668	0.89;0.89	3.51	2.38	0.29361	AMP-dependent synthetase/ligase (1);	0.000000	0.48286	D	0.000188	T	0.55178	0.1904	M	0.64170	1.965	0.48511	D	0.999664	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.49123	-0.8972	10	0.39692	T	0.17	-4.6887	7.8708	0.29565	0.8022:0.0:0.0:0.1978	.	101;101	A8K051;Q68CK6	.;ACS2B_HUMAN	R	101	ENSP00000327453:C101R;ENSP00000390378:C101R	ENSP00000327453:C101R	C	-	1	0	ACSM2B	20478147	0.985000	0.35326	0.002000	0.10522	0.012000	0.07955	4.017000	0.57167	0.406000	0.25560	0.496000	0.49642	TGT		0.577	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		G	20570646	A	G	20570646	3	3	29	1	0	0	0	0	1	0	0	0	184	188	7	3	1480	3	ACSM2B	16	20570646	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10	8590271	20570646	69784107	69	2092											
ALKBH5	54890	hgsc.bcm.edu	37	17	18087657	18087680	+	In_Frame_Del	DEL	GCCGCAGCCGCCGTAGCCGCCGCA	GCCGCAGCCGCCGTAGCCGCCGCA	-			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	GCCGCAGCCGCCGTAGCCGCCGCA	GCCGCAGCCGCCGTAGCCGCCGCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr17:18087657_18087680delGCCGCAGCCGCCGTAGCCGCCGCA	ENST00000399138.4	+	1	105_128	c.100_123delGCCGCAGCCGCCGTAGCCGCCGCA	c.(100-123)gccgcagccgccgtagccgccgcadel	p.AAAAVAAA34del	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	34	Ala-rich.				cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					cgccgccgctgccgcagccgccgtagccgccgcagccgcagccg	0.705																																					Ovarian(166;154 1953 40235 46283 46309)											0																																										SO:0001651	inframe_deletion	54890			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.100_123delGCCGCAGCCGCCGTAGCCGCCGCA	chr17.hg19:g.18087657_18087680delGCCGCAGCCGCCGTAGCCGCCGCA	ENSP00000382091:p.Ala34_Ala41del		B4DVJ4|D3DXC6|Q9NXD6	In_Frame_Del	DEL	ENST00000399138.4	hg19	CCDS42272.1																																																																																				0.705	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		-	18087680	GCCGCAGCCGCCGTAGCCGCCGCA	-	18087657	7	5	29	1	0	1	0	1	0	0	0	0	530	1319	46	0	102	0	ALKBH5	17	18087657	In_Frame_Del	DEL	GCCGCAGCCGCCGTAGCCGCCGCA	TCGA-5P-A9JW-01A-11D-A42J-10		18087657	63107553	70	2093											
NOS2	4843	hgsc.bcm.edu	37	17	26099337	26099346	+	Frame_Shift_Del	DEL	GGGGTTGAAG	GGGGTTGAAG	-	rs531708405		TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	GGGGTTGAAG	GGGGTTGAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr17:26099337_26099346delGGGGTTGAAG	ENST00000313735.6	-	14	1925_1934	c.1692_1701delCTTCAACCCC	c.(1690-1701)gccttcaaccccfs	p.AFNP564fs		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	564	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CCAGTACCTTGGGGTTGAAGGCACAGCTGA	0.538																																																0																																										SO:0001589	frameshift_variant	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1692_1701delCTTCAACCCC	chr17.hg19:g.26099337_26099346delGGGGTTGAAG	ENSP00000327251:p.Ala564fs		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Frame_Shift_Del	DEL	ENST00000313735.6	hg19	CCDS11223.1																																																																																				0.538	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		-	26099346	GGGGTTGAAG	-	26099337	7	5	29	1	0	1	0	1	0	0	0	0	10545	1335	47	0	1816	0	NOS2	17	26099337	Frame_Shift_Del	DEL	GGGGTTGAAG	TCGA-5P-A9JW-01A-11D-A42J-10	8011680	26099337	55095873	71	2094											
C17orf42	79736	hgsc.bcm.edu	37	17	29226569	29226570	+	Frame_Shift_Ins	INS	-	-	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr17:29226569_29226570insT	ENST00000581216.1	-	4	1321_1322	c.700_701insA	c.(700-702)acafs	p.T234fs	TEFM_ENST00000580840.1_3'UTR|TEFM_ENST00000579183.1_5'Flank	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	234					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										GGAAAGTCCTGTTTTTTCCAGA	0.317																																																0																																										SO:0001589	frameshift_variant	79736				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 42"	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.701dupA	chr17.hg19:g.29226575_29226575dupT	ENSP00000462963:p.Thr234fs		E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Frame_Shift_Ins	INS	ENST00000581216.1	hg19	CCDS42291.1																																																																																				0.317	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1	NM_024683		T	29226570	-	T	29226569	7	5	29	1	0	1	1	0	0	0	0	0	1858	1377	48	0	385	0	C17orf42	17	29226569	Frame_Shift_Ins	INS	-	TCGA-5P-A9JW-01A-11D-A42J-10	3127232	29226569	51968641	72	2095											
EFNA2	1943	hgsc.bcm.edu	37	19	1299934	1299934	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr19:1299934T>C	ENST00000215368.2	+	4	647	c.632T>C	c.(631-633)cTg>cCg	p.L211P	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	211					axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|olfactory bulb development (GO:0021772)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACCCTCCTGGGTTCCTAG	0.711																																																0													32	30	31					19																	1299934		2203	4298	6501	SO:0001583	missense	1943				CCDS12061.1	19p13	2011-03-09			ENSG00000099617	ENSG00000099617		"Ephrins"	3222	protein-coding gene	gene with protein product		602756		EPLG6			Standard	NM_001405		Approved	ELF-1, LERK6	uc002lry.2	O43921		ENST00000215368.2:c.632T>C	chr19.hg19:g.1299934T>C	ENSP00000215368:p.Leu211Pro		O76020	Missense_Mutation	SNP	ENST00000215368.2	hg19	CCDS12061.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871424	0.33069	.	.	ENSG00000099617	ENST00000215368	D	0.92446	-3.04	3.41	3.41	0.39046	.	0.534302	0.14986	U	0.286944	D	0.84804	0.5553	N	0.19112	0.55	0.54753	D	0.999985	B	0.12013	0.005	B	0.08055	0.003	T	0.81782	-0.0775	10	0.87932	D	0	.	9.6252	0.39746	0.0:0.0:0.0:1.0	.	211	O43921	EFNA2_HUMAN	P	211	ENSP00000215368:L211P	ENSP00000215368:L211P	L	+	2	0	EFNA2	1250934	0.992000	0.36948	0.998000	0.56505	0.592000	0.36648	2.449000	0.44935	1.557000	0.49525	0.402000	0.26972	CTG		0.711	EFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450016.1	NM_001405		C	1299934	T	C	1299934	3	2	29	1	0	0	0	0	1	0	0	0	4953	1580	55	3	646	3	EFNA2	19	1299934	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10		1299934	57829049	73	2096											
MUC16	94025	hgsc.bcm.edu	37	19	9082415	9082415	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr19:9082415T>A	ENST00000397910.4	-	1	9603	c.9400A>T	c.(9400-9402)Aca>Tca	p.T3134S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3135	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCTGGCTGTGGGTTCTGTG	0.488																																																0													194	200	198					19																	9082415		1930	4144	6074	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9400A>T	chr19.hg19:g.9082415T>A	ENSP00000381008:p.Thr3134Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.734	-0.054959	0.07362	.	.	ENSG00000181143	ENST00000397910	T	0.02369	4.32	0.235	0.235	0.15431	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	.	.	.	P	0.49696	0.927	P	0.56563	0.801	T	0.45614	-0.9249	7	0.87932	D	0	.	.	.	.	.	3134	B5ME49	.	S	3134	ENSP00000381008:T3134S	ENSP00000381008:T3134S	T	-	1	0	MUC16	8943415	0.032000	0.19561	0.024000	0.17045	0.224000	0.24922	1.084000	0.30828	0.263000	0.21812	0.260000	0.18958	ACA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9082415	T	A	9082415	3	1	29	1	0	0	0	0	1	0	0	0	9975	1696	59	5	34459	5	MUC16	19	9082415	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	7782481	9082415	50046568	74	2097											
ARRDC2	27106	hgsc.bcm.edu	37	19	18121498	18121498	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr19:18121498T>G	ENST00000222250.4	+	7	1273	c.1130T>G	c.(1129-1131)aTc>aGc	p.I377S	ARRDC2_ENST00000379656.3_Missense_Mutation_p.I372S	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	377					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TTCGCCTACATCCAAGAGTTC	0.647																																																0													58	56	56					19																	18121498		2203	4300	6503	SO:0001583	missense	27106				CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.1130T>G	chr19.hg19:g.18121498T>G	ENSP00000222250:p.Ile377Ser		B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	hg19	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119026	0.56505	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.16196	2.36;2.36	4.25	4.25	0.50352	.	0.228959	0.44483	D	0.000445	T	0.20861	0.0502	L	0.56199	1.76	0.47905	D	0.999549	B;B	0.32507	0.257;0.373	B;B	0.36666	0.115;0.23	T	0.04900	-1.0919	10	0.72032	D	0.01	-14.6862	12.8566	0.57888	0.0:0.0:0.0:1.0	.	377;372	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	S	372;377	ENSP00000368977:I372S;ENSP00000222250:I377S	ENSP00000222250:I377S	I	+	2	0	ARRDC2	17982498	1.000000	0.71417	0.855000	0.33649	0.157000	0.22087	7.845000	0.86875	1.715000	0.51383	0.402000	0.26972	ATC		0.647	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		G	18121498	T	G	18121498	3	3	29	1	0	0	0	0	1	0	0	0	983	1435	50	5	1419	5	ARRDC2	19	18121498	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	9039083	18121498	41007485	75	2098											
CAPN12	147968	hgsc.bcm.edu	37	19	39224978	39224978	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr19:39224978T>C	ENST00000328867.4	-	16	2104	c.1796A>G	c.(1795-1797)cAg>cGg	p.Q599R	CAPN12_ENST00000601953.1_Missense_Mutation_p.Q450R	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	599	Domain IV.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGCAGCAGCTGCTCACAGGT	0.602																																																0													68	64	65					19																	39224978		2200	4296	6496	SO:0001583	missense	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1796A>G	chr19.hg19:g.39224978T>C	ENSP00000331636:p.Gln599Arg			Missense_Mutation	SNP	ENST00000328867.4	hg19	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574581	0.28092	.	.	ENSG00000182472	ENST00000328867	T	0.28255	1.62	4.92	3.86	0.44501	EF-hand-like domain (1);	0.628804	0.15984	N	0.235145	T	0.24736	0.0600	L	0.42245	1.32	0.32013	N	0.601756	B	0.25105	0.118	B	0.21917	0.037	T	0.19943	-1.0290	10	0.44086	T	0.13	.	7.5877	0.28002	0.1901:0.0:0.0:0.8098	.	599	Q6ZSI9	CAN12_HUMAN	R	599	ENSP00000331636:Q599R	ENSP00000331636:Q599R	Q	-	2	0	CAPN12	43916818	0.998000	0.40836	0.996000	0.52242	0.908000	0.53690	1.294000	0.33365	0.671000	0.31185	0.379000	0.24179	CAG		0.602	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			C	39224978	T	C	39224978	3	2	29	1	0	0	0	0	1	0	0	0	2627	1580	55	3	387	3	CAPN12	19	39224978	Missense_Mutation	SNP	T	TCGA-5P-A9JW-01A-11D-A42J-10	21103480	39224978	19904005	76	2099											
ZNF135	7694	hgsc.bcm.edu	37	19	58574844	58574844	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr19:58574844C>G	ENST00000313434.5	+	4	292	c.191C>G	c.(190-192)tCc>tGc	p.S64C	ZNF135_ENST00000359978.6_Missense_Mutation_p.S76C|ZNF135_ENST00000506786.1_Missense_Mutation_p.S22C|ZNF135_ENST00000511556.1_Missense_Mutation_p.S64C|ZNF135_ENST00000439855.2_Missense_Mutation_p.S64C|ZNF135_ENST00000401053.4_Missense_Mutation_p.S76C	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AATGTCATCTCCCTGCTGGAG	0.582																																																0													110	95	100					19																	58574844		2203	4300	6503	SO:0001583	missense	7694			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.191C>G	chr19.hg19:g.58574844C>G	ENSP00000321406:p.Ser64Cys		B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.26|12.26	1.884823|1.884823	0.33255|0.33255	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T;T	.|0.26223	.|1.75;1.75;1.75;1.75;1.75;1.75	2.25|2.25	-1.15|-1.15	0.09709|0.09709	.|Krueppel-associated box (3);	.|.	.|.	.|.	.|.	T|T	0.26412|0.26412	0.0645|0.0645	M|M	0.72353|0.72353	2.195|2.195	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.52463	.|0.859;0.859;0.953	.|B;B;B	.|0.44044	.|0.439;0.439;0.431	T|T	0.16778|0.16778	-1.0391|-1.0391	5|9	.|0.56958	.|D	.|0.05	.|.	5.0601|5.0601	0.14553|0.14553	0.0:0.5165:0.0:0.4835|0.0:0.5165:0.0:0.4835	.|.	.|64;64;76	.|E9PEV2;P52742;Q8N1I7	.|.;ZN135_HUMAN;.	A|C	70|76;76;76;64;64;64;22	.|ENSP00000441410:S76C;ENSP00000369437:S76C;ENSP00000444828:S64C;ENSP00000321406:S64C;ENSP00000422074:S64C;ENSP00000427691:S22C	.|ENSP00000321406:S64C	P|S	+|+	1|2	0|0	ZNF135|ZNF135	63266656|63266656	0.116000|0.116000	0.22171|0.22171	0.002000|0.002000	0.10522|0.10522	0.185000|0.185000	0.23345|0.23345	1.256000|1.256000	0.32921|0.32921	-0.176000|-0.176000	0.10707|0.10707	0.563000|0.563000	0.77884|0.77884	CCC|TCC		0.582	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		G	58574844	C	G	58574844	3	3	29	1	0	0	0	0	1	0	0	0	17730	855	30	4	274	4	ZNF135	19	58574844	Missense_Mutation	SNP	C	TCGA-5P-A9JW-01A-11D-A42J-10	19349866	58574844	554139	77	2100											
MYBL2	4605	hgsc.bcm.edu	37	20	42315498	42315498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr20:42315498G>T	ENST00000217026.4	+	5	413	c.286G>T	c.(286-288)Gag>Tag	p.E96*	MYBL2_ENST00000396863.4_Nonsense_Mutation_p.E72*	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	96	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TAAGGTCATCGAGCTGGTTAA	0.587																																																0													58	52	54					20																	42315498		2203	4300	6503	SO:0001587	stop_gained	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.286G>T	chr20.hg19:g.42315498G>T	ENSP00000217026:p.Glu96*		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Nonsense_Mutation	SNP	ENST00000217026.4	hg19	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362811	0.95877	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-40.0646	18.2387	0.89958	0.0:0.0:1.0:0.0	.	.	.	.	X	72;96	.	ENSP00000217026:E96X	E	+	1	0	MYBL2	41748912	1.000000	0.71417	0.996000	0.52242	0.368000	0.29767	9.726000	0.98782	2.687000	0.91594	0.462000	0.41574	GAG		0.587	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		T	42315498	G	T	42315498	4	4	29	1	0	0	0	0	0	1	0	0	10012	1059	37	4	304	4	MYBL2	20	42315498	Nonsense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10		42315498	20710022	78	2101											
ZNF831	128611	hgsc.bcm.edu	37	20	57767884	57767884	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr20:57767884G>A	ENST00000371030.2	+	1	1810	c.1810G>A	c.(1810-1812)Ggc>Agc	p.G604S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	604							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGAGCGGGCGGCAGGAAGTG	0.612																																																0													39	45	43					20																	57767884		2064	4194	6258	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1810G>A	chr20.hg19:g.57767884G>A	ENSP00000360069:p.Gly604Ser		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	4.418	0.077213	0.08485	.	.	ENSG00000124203	ENST00000371030	T	0.04275	3.66	5.52	-6.39	0.01951	.	1.361980	0.05276	N	0.518429	T	0.01730	0.0055	N	0.01576	-0.805	0.09310	N	1	B	0.25312	0.123	B	0.12837	0.008	T	0.47459	-0.9116	10	0.05620	T	0.96	1.2211	15.2673	0.73672	0.7034:0.0:0.2966:0.0	.	604	Q5JPB2	ZN831_HUMAN	S	604	ENSP00000360069:G604S	ENSP00000360069:G604S	G	+	1	0	ZNF831	57201279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.216000	0.09266	-1.592000	0.01619	-1.074000	0.02243	GGC		0.612	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57767884	G	A	57767884	3	1	29	1	0	0	0	0	1	0	0	0	18190	1116	39	1	1812	1	ZNF831	20	57767884	Missense_Mutation	SNP	G	TCGA-5P-A9JW-01A-11D-A42J-10	15452386	57767884	5257636	79	2102											
NPBWR2	2832	hgsc.bcm.edu	37	20	62737462	62737473	+	In_Frame_Del	DEL	GGCCCGCAGCCT	GGCCCGCAGCCT	-	rs201687254|rs139565347|rs147787913	byFrequency	TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	GGCCCGCAGCCT	GGCCCGCAGCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chr20:62737462_62737473delGGCCCGCAGCCT	ENST00000369768.1	-	1	1051_1062	c.712_723delAGGCTGCGGGCC	c.(712-723)aggctgcgggccdel	p.RLRA238del		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	238					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGAGCCGCACGGCCCGCAGCCTGCGCAGGAGG	0.665																																																0																																										SO:0001651	inframe_deletion	2832			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.712_723delAGGCTGCGGGCC	chr20.hg19:g.62737462_62737473delGGCCCGCAGCCT	ENSP00000358783:p.Arg238_Ala241del		Q6NWQ6|Q9H4K3	In_Frame_Del	DEL	ENST00000369768.1	hg19	CCDS13557.1																																																																																				0.665	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		-	62737473	GGCCCGCAGCCT	-	62737462	7	5	29	1	0	1	0	1	0	0	0	0	10571	1103	39	0	281	0	NPBWR2	20	62737462	In_Frame_Del	DEL	GGCCCGCAGCCT	TCGA-5P-A9JW-01A-11D-A42J-10	4969578	62737462	288058	80	2103											
AR	367	hgsc.bcm.edu	37	X	66765164	66765164	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chrX:66765164A>T	ENST00000374690.3	+	1	700	c.176A>T	c.(175-177)cAg>cTg	p.Q59L	AR_ENST00000504326.1_Missense_Mutation_p.Q59L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q59L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	59	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTgcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																																							0													7	10	9					X																	66765164		2055	4063	6118	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.176A>T	chrX.hg19:g.66765164A>T	ENSP00000363822:p.Gln59Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.901651	0.33535	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69175	-0.38;-0.38;-0.38	.	.	.	.	1.117170	0.06949	N	0.814177	T	0.47060	0.1425	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.31724	-0.9933	8	0.13108	T	0.6	.	.	.	.	.	59;59	E7EVX6;D3YPQ2	.;.	L	59	ENSP00000363822:Q59L;ENSP00000421155:Q59L;ENSP00000379359:Q59L	ENSP00000363822:Q59L	Q	+	2	0	AR	66681889	0.995000	0.38212	0.864000	0.33941	0.503000	0.33858	0.245000	0.18142	0.000000	0.14550	0.000000	0.15137	CAG		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765164	A	T	66765164	3	4	29	1	0	0	0	0	1	0	0	0	836	188	7	5	178	5	AR	23	66765164	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10		66765164	88505396	81	2104	22	2									
AR	367	hgsc.bcm.edu	37	X	66765167	66765167	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chrX:66765167A>T	ENST00000374690.3	+	1	703	c.179A>T	c.(178-180)cAg>cTg	p.Q60L	AR_ENST00000504326.1_Missense_Mutation_p.Q60L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q60L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	60	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTgcagcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																																							0			GRCh37	CI994028	AR	I							6	9	8					X																	66765167		1971	3901	5872	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.179A>T	chrX.hg19:g.66765167A>T	ENSP00000363822:p.Gln60Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.27	1.588228	0.28357	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.57436	0.4;0.4;0.4	.	.	.	.	1.241110	0.06210	N	0.684797	T	0.29288	0.0729	N	0.19112	0.55	0.09310	N	0.999999	P;P;.	0.36048	0.534;0.534;.	B;B;.	0.29862	0.08;0.108;.	T	0.11494	-1.0585	8	0.12103	T	0.63	.	.	.	.	.	60;60;58	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	60	ENSP00000363822:Q60L;ENSP00000421155:Q60L;ENSP00000379359:Q60L	ENSP00000363822:Q60L	Q	+	2	0	AR	66681892	0.997000	0.39634	0.860000	0.33809	0.513000	0.34164	1.220000	0.32491	0.000000	0.14550	0.000000	0.15137	CAG		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765167	A	T	66765167	3	4	29	1	0	0	0	0	1	0	0	0	836	188	7	5	181	5	AR	23	66765167	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10	3	66765167	88505393	82	2105	22	2									
MST4	51765	hgsc.bcm.edu	37	X	131207114	131207114	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chrX:131207114delT	ENST00000354719.6	+	10	1363	c.1147delT	c.(1147-1149)tttfs	p.F383fs	MST4_ENST00000394334.2_Frame_Shift_Del_p.F407fs|MST4_ENST00000496850.1_Frame_Shift_Del_p.F345fs|MST4_ENST00000481105.1_Frame_Shift_Del_p.F429fs|MST4_ENST00000394335.2_Frame_Shift_Del_p.F330fs														p.F407I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AATTGAAAAATTTCAAAAGTA	0.343																																																1	Substitution - Missense(1)	prostate(1)											48	53	51					X																	131207114		2169	4256	6425	SO:0001589	frameshift_variant	0																														ENST00000354719.6:c.1147delT	chrX.hg19:g.131207114delT	ENSP00000346755:p.Phe383fs			Frame_Shift_Del	DEL	ENST00000354719.6	hg19																																																																																					0.343	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			-	131207114	T	-	131207114	7	5	29	1	0	1	0	1	0	0	0	0	9894	1493	52	0	1257	0	MST4	23	131207114	Frame_Shift_Del	DEL	T	TCGA-5P-A9JW-01A-11D-A42J-10	64441947	131207114	24063446	83	2106	23	2									
MST4	51765	hgsc.bcm.edu	37	X	131207118	131207118	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9JW-01A-11D-A42J-10	TCGA-5P-A9JW-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	82cf23e0-e687-4cf2-b83f-732ce4279056	d59804af-3375-4351-a1ef-125b05396a6f	g.chrX:131207118A>C	ENST00000354719.6	+	10	1367	c.1151A>C	c.(1150-1152)cAa>cCa	p.Q384P	MST4_ENST00000394334.2_Missense_Mutation_p.Q408P|MST4_ENST00000496850.1_Missense_Mutation_p.Q346P|MST4_ENST00000481105.1_Missense_Mutation_p.Q430P|MST4_ENST00000394335.2_Missense_Mutation_p.Q331P																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GAAAAATTTCAAAAGTAAGTT	0.328																																																0													46	51	49					X																	131207118		2162	4248	6410	SO:0001583	missense	0																														ENST00000354719.6:c.1151A>C	chrX.hg19:g.131207118A>C	ENSP00000346755:p.Gln384Pro			Missense_Mutation	SNP	ENST00000354719.6	hg19		.	.	.	.	.	.	.	.	.	.	a	16.71	3.199273	0.58126	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000008	T	0.60971	0.2310	M	0.80422	2.495	0.47949	D	0.999553	D;P;D;D;P	0.64830	0.967;0.91;0.994;0.98;0.91	P;P;D;P;P	0.65443	0.737;0.616;0.935;0.907;0.616	T	0.66838	-0.5822	10	0.72032	D	0.01	.	14.6026	0.68450	1.0:0.0:0.0:0.0	.	430;384;346;331;408	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	P	408;430;384;331;346	ENSP00000377867:Q408P;ENSP00000418753:Q430P;ENSP00000346755:Q384P;ENSP00000377868:Q331P;ENSP00000419702:Q346P	ENSP00000346755:Q384P	Q	+	2	0	AL109749.1	131034799	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.933000	0.75874	1.829000	0.53265	0.422000	0.28245	CAA		0.328	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			C	131207118	A	C	131207118	3	2	29	1	0	0	0	0	1	0	0	0	9894	130	5	5	1261	5	MST4	23	131207118	Missense_Mutation	SNP	A	TCGA-5P-A9JW-01A-11D-A42J-10	4	131207118	24063442	84	2107	23	2									
TNFRSF18	8784	hgsc.bcm.edu	37	1	1141898	1141898	+	Silent	SNP	C	C	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:1141898C>A	ENST00000379268.2	-	1	173	c.54G>T	c.(52-54)ctG>ctT	p.L18L	TNFRSF18_ENST00000328596.6_Silent_p.L18L|TNFRSF18_ENST00000379265.5_Silent_p.L18L|TNFRSF18_ENST00000486728.1_5'Flank	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	18					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGCGCACAGCAGCGCCAGGC	0.751																																					GBM(157;472 1934 13810 14591 35952)											0													3	4	4					1																	1141898		1947	3834	5781	SO:0001819	synonymous_variant	8784			AF125304	CCDS9.1, CCDS10.1, CCDS30552.1	1p36.3	2011-08-11			ENSG00000186891	ENSG00000186891		"Tumor necrosis factor receptor superfamily", "CD molecules"	11914	protein-coding gene	gene with protein product		603905				9177197, 10037686	Standard	NM_004195		Approved	AITR, GITR, CD357	uc001add.3	Q9Y5U5	OTTHUMG00000001414	ENST00000379268.2:c.54G>T	chr1.hg19:g.1141898C>A			B1AME1|O95851|Q5U0I4|Q9NYJ9	Silent	SNP	ENST00000379268.2	hg19	CCDS10.1																																																																																				0.751	TNFRSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004083.2	NM_004195		A	1141898	C	A	1141898	2	1	30	1	0	0	0	0	0	0	0	1	16296	697	25	4		4	TNFRSF18	1	1141898	Silent	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10		1141898	248108723	1	2108											
PER3	8863	hgsc.bcm.edu	37	1	7845028	7845028	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:7845028delT	ENST00000361923.2	+	1	266	c.91delT	c.(91-93)ttcfs	p.F31fs	PER3_ENST00000377541.1_Frame_Shift_Del_p.F31fs|PER3_ENST00000377532.3_Frame_Shift_Del_p.F31fs	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	31					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCCCGAGTTCCATCTGCA	0.672																																																0													28	32	30					1																	7845028		2202	4300	6502	SO:0001589	frameshift_variant	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.91delT	chr1.hg19:g.7845028delT	ENSP00000355031:p.Phe31fs		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Frame_Shift_Del	DEL	ENST00000361923.2	hg19	CCDS89.1																																																																																				0.672	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		-	7845028	T	-	7845028	7	5	30	1	0	1	0	1	0	0	0	0	11733	1725	60	0	93	0	PER3	1	7845028	Frame_Shift_Del	DEL	T	TCGA-5P-A9JY-01A-11D-A42J-10	6703130	7845028	241405593	2	2109											
PTCHD2	57540	hgsc.bcm.edu	37	1	11562062	11562062	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:11562062C>T	ENST00000294484.6	+	2	1151	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S338L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	338					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCCCCAGCTCGCTCATGACC	0.637																																																0													36	40	39					1																	11562062		1956	4121	6077	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1013C>T	chr1.hg19:g.11562062C>T	ENSP00000294484:p.Ser338Leu		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	hg19	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987294	0.93106	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.57752	0.38;0.38	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.66779	-0.5837	10	0.72032	D	0.01	-14.5988	18.2403	0.89966	0.0:1.0:0.0:0.0	.	338	Q9P2K9	PTHD2_HUMAN	L	338	ENSP00000294484:S338L;ENSP00000374226:S338L	ENSP00000294484:S338L	S	+	2	0	PTCHD2	11484649	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.494000	0.81503	2.542000	0.85734	0.655000	0.94253	TCG		0.637	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		T	11562062	C	T	11562062	3	4	30	1	0	0	0	0	1	0	0	0	12738	893	31	1	1015	1	PTCHD2	1	11562062	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	3717034	11562062	237688559	3	2110											
PTCHD2	57540	hgsc.bcm.edu	37	1	11585336	11585336	+	Silent	SNP	G	G	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:11585336G>T	ENST00000294484.6	+	12	2718	c.2580G>T	c.(2578-2580)gtG>gtT	p.V860V	PTCHD2_ENST00000389575.3_Silent_p.V860V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	860					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCAGGCTGTGTCGCCTGGGG	0.637																																																0													75	76	75					1																	11585336		2021	4177	6198	SO:0001819	synonymous_variant	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2580G>T	chr1.hg19:g.11585336G>T			Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	hg19	CCDS41247.1																																																																																				0.637	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		T	11585336	G	T	11585336	2	4	30	1	0	0	0	0	0	0	0	1	12738	1364	48	4		4	PTCHD2	1	11585336	Silent	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	23274	11585336	237665285	4	2111											
VPS13D	55187	hgsc.bcm.edu	37	1	12318000	12318000	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:12318000A>T	ENST00000358136.3	+	10	1080	c.950A>T	c.(949-951)gAa>gTa	p.E317V	VPS13D_ENST00000356315.4_Missense_Mutation_p.E317V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCTGCCGAGAATGGTGGTAT	0.448																																																0													221	205	210					1																	12318000		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.950A>T	chr1.hg19:g.12318000A>T	ENSP00000350854:p.Glu317Val			Missense_Mutation	SNP	ENST00000358136.3	hg19	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.214047	0.58452	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.48201	0.82;0.82	5.54	5.54	0.83059	.	0.053588	0.64402	D	0.000001	T	0.40595	0.1123	L	0.48642	1.525	0.80722	D	1	P;P	0.40731	0.655;0.728	B;B	0.35114	0.194;0.196	T	0.30995	-0.9959	10	0.34782	T	0.22	.	15.1606	0.72782	1.0:0.0:0.0:0.0	.	317;317	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	V	317	ENSP00000348666:E317V;ENSP00000350854:E317V	ENSP00000348666:E317V	E	+	2	0	VPS13D	12240587	0.997000	0.39634	0.969000	0.41365	0.948000	0.59901	3.680000	0.54641	2.230000	0.72887	0.528000	0.53228	GAA		0.448	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12318000	A	T	12318000	3	4	30	1	0	0	0	0	1	0	0	0	17197	246	9	5	984	5	VPS13D	1	12318000	Missense_Mutation	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10	732664	12318000	236932621	5	2112											
MAP3K6	9064	hgsc.bcm.edu	37	1	27685320	27685320	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:27685320C>A	ENST00000493901.1	-	20	2702	c.2463G>T	c.(2461-2463)caG>caT	p.Q821H	MAP3K6_ENST00000374040.3_Missense_Mutation_p.Q813H|MAP3K6_ENST00000357582.2_Missense_Mutation_p.Q821H	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	821	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCGTGGGCCCTGGTCAATGA	0.587																																																0													82	74	77					1																	27685320		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2463G>T	chr1.hg19:g.27685320C>A	ENSP00000419591:p.Gln821His		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	hg19	CCDS299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.596728|3.596728	0.66332|0.66332	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582|ENST00000472410	T;T;T|.	0.25414|.	1.8;1.8;1.8|.	5.84|5.84	2.54|2.54	0.30619|0.30619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.40979|0.40979	0.1139|0.1139	N|N	0.26162|0.26162	0.8|0.8	0.46798|0.46798	D|D	0.999201|0.999201	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.72982|.	0.964;0.979|.	T|T	0.10660|0.10660	-1.0620|-1.0620	9|5	0.42905|.	T|.	0.14|.	.|.	7.3605|7.3605	0.26744|0.26744	0.0:0.5545:0.0:0.4455|0.0:0.5545:0.0:0.4455	.|.	813;821|.	O95382-3;O95382|.	.;M3K6_HUMAN|.	H|M	813;821;544;821|545	ENSP00000363152:Q813H;ENSP00000419591:Q821H;ENSP00000350195:Q821H|.	ENSP00000350195:Q821H|.	Q|R	-|-	3|2	2|0	MAP3K6|MAP3K6	27557907|27557907	0.372000|0.372000	0.25064|0.25064	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	-0.312000|-0.312000	0.08113|0.08113	0.729000|0.729000	0.32403|0.32403	0.561000|0.561000	0.74099|0.74099	CAG|AGG		0.587	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		A	27685320	C	A	27685320	3	1	30	1	0	0	0	0	1	0	0	0	9256	680	24	4	1447	4	MAP3K6	1	27685320	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	15367320	27685320	221565301	6	2113											
SFPQ	6421	hgsc.bcm.edu	37	1	35657092	35657092	+	Silent	SNP	T	T	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:35657092T>C	ENST00000357214.5	-	2	965	c.867A>G	c.(865-867)ggA>ggG	p.G289G		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	289					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AAGTTTTCTCTCCAGGCCTCC	0.413			T	TFE3	papillary renal cell																																		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													83	83	83					1																	35657092		2203	4300	6503	SO:0001819	synonymous_variant	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.867A>G	chr1.hg19:g.35657092T>C			P30808|Q5SZ71	Silent	SNP	ENST00000357214.5	hg19	CCDS388.1																																																																																				0.413	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		C	35657092	T	C	35657092	2	2	30	1	0	0	0	0	0	0	0	1	14166	1538	54	3		3	SFPQ	1	35657092	Silent	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10	7971772	35657092	213593529	7	2114											
AKIRIN1	79647	hgsc.bcm.edu	37	1	39469081	39469081	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:39469081C>A	ENST00000432648.3	+	4	717	c.559C>A	c.(559-561)Cca>Aca	p.P187T	AKIRIN1_ENST00000372984.4_Missense_Mutation_p.P140T|AKIRIN1_ENST00000446189.2_Missense_Mutation_p.P142T	NM_024595.2	NP_078871.1	Q9H9L7	AKIR1_HUMAN	akirin 1	187						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				lung(1)|prostate(1)|skin(1)	3						TGGGACAAGGCCAACAAGCTG	0.373																																																0													126	106	113					1																	39469081		2203	4300	6503	SO:0001583	missense	79647			AK022728	CCDS433.1, CCDS44113.1	1p34.3	2013-10-11	2008-06-23	2008-06-23	ENSG00000174574	ENSG00000174574			25744	protein-coding gene	gene with protein product		615164	"chromosome 1 open reading frame 108"	C1orf108		19200367	Standard	NM_024595		Approved	FLJ12666	uc001ccw.3	Q9H9L7	OTTHUMG00000007496	ENST00000432648.3:c.559C>A	chr1.hg19:g.39469081C>A	ENSP00000392678:p.Pro187Thr		B4DZU6|Q0VDB3|Q53FK8	Missense_Mutation	SNP	ENST00000432648.3	hg19	CCDS433.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185740	0.78789	.	.	ENSG00000174574	ENST00000432648;ENST00000446189;ENST00000372984	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.983	D;D;P	0.87578	0.996;0.998;0.755	T	0.78409	-0.2215	9	0.49607	T	0.09	-31.0616	16.9086	0.86134	0.0:1.0:0.0:0.0	.	140;142;187	B4DQP0;B4DZU6;Q9H9L7	.;.;AKIR1_HUMAN	T	187;142;140	.	ENSP00000362075:P140T	P	+	1	0	AKIRIN1	39241668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.444000	0.66587	2.657000	0.90304	0.557000	0.71058	CCA		0.373	AKIRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019687.2	NM_024595		A	39469081	C	A	39469081	3	1	30	1	0	0	0	0	1	0	0	0	461	739	26	4	573	4	AKIRIN1	1	39469081	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	3811989	39469081	209781540	8	2115											
USP24	23358	hgsc.bcm.edu	37	1	55604356	55604356	+	Silent	SNP	A	A	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:55604356A>G	ENST00000294383.6	-	26	2852	c.2853T>C	c.(2851-2853)caT>caC	p.H951H	USP24_ENST00000407756.1_Silent_p.H791H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	951					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATGAGGCACCATGAGGTAGAA	0.368																																																0													76	72	73					1																	55604356		1901	4114	6015	SO:0001819	synonymous_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2853T>C	chr1.hg19:g.55604356A>G			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	hg19	CCDS44154.2																																																																																				0.368	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			G	55604356	A	G	55604356	2	3	30	1	0	0	0	0	0	0	0	1	17060	214	8	3		3	USP24	1	55604356	Silent	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10	16135275	55604356	193646265	9	2116											
ZRANB2	9406	hgsc.bcm.edu	37	1	71532486	71532486	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:71532486C>G	ENST00000370920.3	-	9	1203	c.902G>C	c.(901-903)aGa>aCa	p.R301T	ZRANB2-AS1_ENST00000450461.1_RNA|MIR186_ENST00000384988.1_RNA|ZRANB2_ENST00000477096.1_5'UTR|ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.R301T	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	301	Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCTTGTTCGTCTTTTTTTGCG	0.383																																																0													125	121	122					1																	71532486		2203	4300	6503	SO:0001583	missense	9406			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.902G>C	chr1.hg19:g.71532486C>G	ENSP00000359958:p.Arg301Thr		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	hg19	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496632	0.44352	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.65549	-0.09;-0.16	6.16	5.26	0.73747	.	.	.	.	.	T	0.32194	0.0821	N	0.19112	0.55	0.45097	D	0.998112	B;B	0.30281	0.18;0.275	B;B	0.30855	0.035;0.121	T	0.38866	-0.9641	9	0.56958	D	0.05	.	11.4336	0.50056	0.0:0.8636:0.0:0.1364	.	301;301	O95218;O95218-2	ZRAB2_HUMAN;.	T	301	ENSP00000359958:R301T;ENSP00000254821:R301T	ENSP00000254821:R301T	R	-	2	0	ZRANB2	71305074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.684000	0.61686	1.623000	0.50342	0.650000	0.86243	AGA		0.383	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		G	71532486	C	G	71532486	3	3	30	1	0	0	0	0	1	0	0	0	18228	913	32	4	136	4	ZRANB2	1	71532486	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	15928130	71532486	177718135	10	2117											
SNX7	51375	hgsc.bcm.edu	37	1	99127306	99127307	+	Frame_Shift_Ins	INS	-	-	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:99127306_99127307insC	ENST00000306121.3	+	1	28_29	c.19_20insC	c.(19-21)gcafs	p.A7fs	SNX7_ENST00000529992.1_Frame_Shift_Ins_p.A7fs|SNX7_ENST00000370189.5_5'UTR	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	0					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CGAGCGCCGGGCATCGCAGGCG	0.802																																																0																																										SO:0001589	frameshift_variant	51375			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.20dupC	chr1.hg19:g.99127307_99127307dupC	ENSP00000304429:p.Ala7fs		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Frame_Shift_Ins	INS	ENST00000306121.3	hg19	CCDS755.2																																																																																				0.802	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			C	99127307	-	C	99127306	7	5	30	1	0	1	1	0	0	0	0	0	14913	1203	42	0	21	0	SNX7	1	99127306	Frame_Shift_Ins	INS	-	TCGA-5P-A9JY-01A-11D-A42J-10	27594820	99127306	150123315	11	2118											
ATP8B2	57198	hgsc.bcm.edu	37	1	154315937	154315937	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:154315937C>G	ENST00000368489.3	+	17	1750	c.1750C>G	c.(1750-1752)Cca>Gca	p.P584A		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	570					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTGCGGAATCCAGAGGGGAA	0.517																																																0													59	53	55					1																	154315937		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1750C>G	chr1.hg19:g.154315937C>G	ENSP00000357475:p.Pro584Ala		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	hg19	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.840063	0.71488	.	.	ENSG00000143515	ENST00000368489	T	0.61859	0.07	5.54	4.61	0.57282	.	0.057135	0.64402	D	0.000001	T	0.67011	0.2848	M	0.85462	2.755	0.80722	D	1	P	0.47191	0.891	P	0.54174	0.744	T	0.71062	-0.4701	10	0.62326	D	0.03	.	13.9576	0.64160	0.0:0.9264:0.0:0.0736	.	584	P98198-3	.	A	584	ENSP00000357475:P584A	ENSP00000357475:P584A	P	+	1	0	ATP8B2	152582561	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.739000	0.62080	2.884000	0.98904	0.655000	0.94253	CCA		0.517	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		G	154315937	C	G	154315937	3	3	30	1	0	0	0	0	1	0	0	0	1195	855	30	4	1946	4	ATP8B2	1	154315937	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	55188631	154315937	94934684	12	2119											
RD3	343035	hgsc.bcm.edu	37	1	211654560	211654576	+	Frame_Shift_Del	DEL	TGTGCTGGCCAGCCAGC	TGTGCTGGCCAGCCAGC	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	TGTGCTGGCCAGCCAGC	TGTGCTGGCCAGCCAGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr1:211654560_211654576delTGTGCTGGCCAGCCAGC	ENST00000367002.4	-	2	1345_1361	c.182_198delGCTGGCTGGCCAGCACA	c.(181-198)agctggctggccagcacafs	p.SWLAST61fs	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	61					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)			p.W62L(1)		central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TGGACCGGGGTGTGCTGGCCAGCCAGCTGTAGTCCAC	0.599																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	343035			AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"chromosome 1 open reading frame 36"	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.182_198delGCTGGCTGGCCAGCACA	chr1.hg19:g.211654560_211654576delTGTGCTGGCCAGCCAGC	ENSP00000355969:p.Ser61fs		A8K595	Frame_Shift_Del	DEL	ENST00000367002.4	hg19	CCDS1498.1																																																																																				0.599	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		-	211654576	TGTGCTGGCCAGCCAGC	-	211654560	7	5	30	1	0	1	0	1	0	0	0	0	13193	1683	59	0	397	0	RD3	1	211654560	Frame_Shift_Del	DEL	TGTGCTGGCCAGCCAGC	TCGA-5P-A9JY-01A-11D-A42J-10	57338623	211654560	37596061	13	2120											
ADI1	55256	hgsc.bcm.edu	37	2	3523139	3523139	+	Splice_Site	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr2:3523139C>T	ENST00000327435.6	-	1	368	c.120G>A	c.(118-120)aaG>aaA	p.K40K	ADI1_ENST00000382093.5_5'Flank|AC142528.1_ENST00000450917.1_RNA	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		GCTCGCGTACCTTCCAGTAGA	0.771																																																0													2	2	2					2																	3523139		1436	3148	4584	SO:0001630	splice_region_variant	55256				CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.120+1G>A	chr2.hg19:g.3523139C>T				Silent	SNP	ENST00000327435.6	hg19	CCDS1653.1																																																																																				0.771	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269	Silent	T	3523139	C	T	3523139	5	4	30	1	0	0	0	0	0	0	1	0	315	695	24	2	435	2	ADI1	2	3523139	Splice_Site	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10		3523139	239676234	14	2121											
BRE	9577	hgsc.bcm.edu	37	2	28460154	28460155	+	In_Frame_Ins	INS	-	-	TGCTCACCA	rs139141828		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr2:28460154_28460155insTGCTCACCA	ENST00000342045.2	+	9	907_908	c.766_767insTGCTCACCA	c.(766-768)ctg>cTGCTCACCAtg	p.256_257insLTM	BRE_ENST00000379624.1_In_Frame_Ins_p.256_257insLTM|BRE_ENST00000344773.2_In_Frame_Ins_p.256_257insLTM|BRE_ENST00000379632.2_In_Frame_Ins_p.256_257insLTM|BRE_ENST00000361704.2_In_Frame_Ins_p.256_257insLTM	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					AGTATGCCACCTGCTCACCAAC	0.49																																																0																																										SO:0001652	inframe_insertion	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.767_775dupTGCTCACCA	chr2.hg19:g.28460155_28460163dupTGCTCACCA	ENSP00000339371:p.Leu256_Leu257insLeuThrMet			In_Frame_Ins	INS	ENST00000342045.2	hg19	CCDS1763.1																																																																																				0.49	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			TGCTCACCA	28460155	-	TGCTCACCA	28460154	7	5	30	1	0	1	1	0	0	0	0	0	1511	680	24	0	792	0	BRE	2	28460154	In_Frame_Ins	INS	-	TCGA-5P-A9JY-01A-11D-A42J-10	24937015	28460154	214739219	15	2122											
KLRAQ1	129285	hgsc.bcm.edu	37	2	48738524	48738524	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr2:48738524A>C	ENST00000294952.8	+	21	2387	c.2230A>C	c.(2230-2232)Atg>Ctg	p.M744L	PPP1R21_ENST00000476199.1_3'UTR|PPP1R21_ENST00000449090.2_Missense_Mutation_p.M702L|PPP1R21_ENST00000281394.4_Missense_Mutation_p.M733L	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	744						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TCAGTTAAGTATGATGAGTGA	0.418																																																0													235	205	215					2																	48738524		2203	4300	6503	SO:0001583	missense	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.2230A>C	chr2.hg19:g.48738524A>C	ENSP00000294952:p.Met744Leu		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	hg19	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799274	0.70567	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	L	0.52266	1.64	0.58432	D	0.999995	P;P;P	0.49696	0.927;0.856;0.91	D;P;D	0.66602	0.945;0.881;0.909	T	0.68911	-0.5284	9	0.26408	T	0.33	-25.9975	16.4461	0.83932	1.0:0.0:0.0:0.0	.	702;744;733	E1B6W7;Q6ZMI0;Q6ZMI0-2	.;PPR21_HUMAN;.	L	733;744;702	.	ENSP00000281394:M733L	M	+	1	0	KLRAQ1	48592028	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.339000	0.96797	2.285000	0.76669	0.528000	0.53228	ATG		0.418	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		C	48738524	A	C	48738524	3	2	30	1	0	0	0	0	1	0	0	0	8415	449	16	5	2312	5	KLRAQ1	2	48738524	Missense_Mutation	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10	20278370	48738524	194460849	16	2123											
USP34	9736	hgsc.bcm.edu	37	2	61417473	61417473	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr2:61417473T>G	ENST00000398571.2	-	78	9882	c.9806A>C	c.(9805-9807)tAt>tCt	p.Y3269S	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3269					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAGGTTCTGATACTGGCTTAT	0.383																																																0													101	95	97					2																	61417473		1835	4096	5931	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9806A>C	chr2.hg19:g.61417473T>G	ENSP00000381577:p.Tyr3269Ser		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	hg19	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206114	0.58234	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	T	0.64260	-0.09	5.87	5.87	0.94306	.	0.109289	0.64402	D	0.000004	T	0.40862	0.1134	N	0.08118	0	0.52501	D	0.999958	B	0.33694	0.421	B	0.25405	0.06	T	0.38972	-0.9636	10	0.27785	T	0.31	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	3269	Q70CQ2	UBP34_HUMAN	S	3117;3034;3269;147	ENSP00000381577:Y3269S	ENSP00000263989:Y3117S	Y	-	2	0	USP34	61270977	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.483000	0.60264	2.371000	0.80710	0.533000	0.62120	TAT		0.383	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			G	61417473	T	G	61417473	3	3	30	1	0	0	0	0	1	0	0	0	17070	1406	49	5	846	5	USP34	2	61417473	Missense_Mutation	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10	12678949	61417473	181781900	17	2124											
TTN	7273	hgsc.bcm.edu	37	2	179391818	179391818	+	Missense_Mutation	SNP	C	C	A	rs281864933		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr2:179391818C>A	ENST00000591111.1	-	313	103198	c.102974G>T	c.(102973-102975)gGt>gTt	p.G34325V	TTN_ENST00000589042.1_Missense_Mutation_p.G35966V|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G33398V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G27026V|TTN_ENST00000460472.2_Missense_Mutation_p.G26901V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G27093V|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34325	Ig-like 152.				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)			ATAAAGTCCACCATCTTGTTT	0.433																																																0													192	177	182					2																	179391818		1948	4153	6101	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102974G>T	chr2.hg19:g.179391818C>A	ENSP00000465570:p.Gly34325Val		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.05	2.420858	0.42918	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	6.17	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67325	0.2881	N	0.21324	0.655	0.80722	D	1	D;D;D;D;D	0.65815	0.987;0.987;0.987;0.987;0.995	P;P;P;P;P	0.55055	0.767;0.767;0.767;0.767;0.702	T	0.71174	-0.4670	9	0.87932	D	0	.	17.7197	0.88347	0.0:0.8781:0.1219:0.0	.	26901;27026;27093;34325;33398	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	V	33398;26901;27093;27026;26898	ENSP00000343764:G33398V;ENSP00000434586:G26901V;ENSP00000340554:G27093V;ENSP00000352154:G27026V	ENSP00000340554:G27093V	G	-	2	0	TTN	179100064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.170000	0.64990	2.941000	0.99782	0.655000	0.94253	GGT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179391818	C	A	179391818	3	1	30	1	0	0	0	0	1	0	0	0	16740	507	18	4	82	4	TTN	2	179391818	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	117974345	179391818	63807555	18	2125											
SLC23A3	151295	hgsc.bcm.edu	37	2	220027074	220027074	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr2:220027074T>C	ENST00000409878.3	-	11	1516	c.1484A>G	c.(1483-1485)cAg>cGg	p.Q495R	SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000455516.2_Missense_Mutation_p.Q503R|NHEJ1_ENST00000356853.5_5'Flank|SLC23A3_ENST00000295738.7_Missense_Mutation_p.Q378R	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	495					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGATGGGCTGTGTCAGCAG	0.557																																																0													76	80	79					2																	220027074		2027	4185	6212	SO:0001583	missense	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1484A>G	chr2.hg19:g.220027074T>C	ENSP00000386473:p.Gln495Arg		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	hg19	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984557	0.35036	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516	T;T;T	0.42513	0.97;2.3;2.29	3.37	3.37	0.38596	.	0.403835	0.19974	N	0.101924	T	0.18593	0.0446	N	0.08118	0	0.80722	D	1	B;B;B	0.24092	0.097;0.097;0.034	B;B;B	0.19946	0.016;0.016;0.027	T	0.06356	-1.0831	9	.	.	.	.	6.0302	0.19677	0.2296:0.0:0.0:0.7704	.	495;503;378	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	R	378;495;503	ENSP00000295738:Q378R;ENSP00000386473:Q495R;ENSP00000406546:Q503R	.	Q	-	2	0	SLC23A3	219735318	0.770000	0.28543	0.999000	0.59377	0.984000	0.73092	0.835000	0.27531	1.539000	0.49286	0.374000	0.22700	CAG		0.557	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		C	220027074	T	C	220027074	3	2	30	1	0	0	0	0	1	0	0	0	14470	1580	55	3	356	3	SLC23A3	2	220027074	Missense_Mutation	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10	40635256	220027074	23172299	19	2126											
TRIP12	9320	hgsc.bcm.edu	37	2	230656737	230656737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr2:230656737delC	ENST00000283943.5	-	28	4213	c.4035delG	c.(4033-4035)cagfs	p.Q1345fs	TRIP12_ENST00000389044.4_Frame_Shift_Del_p.Q1393fs|TRIP12_ENST00000389045.3_Frame_Shift_Del_p.Q1075fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1345					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAATATAAAACTGCAGCCTGT	0.403																																																0													128	126	127					2																	230656737		2203	4300	6503	SO:0001589	frameshift_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4035delG	chr2.hg19:g.230656737delC	ENSP00000283943:p.Gln1345fs		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Del	DEL	ENST00000283943.5	hg19	CCDS33391.1																																																																																				0.403	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		-	230656737	C	-	230656737	7	5	30	1	0	1	0	1	0	0	0	0	16561	564	20	0	1999	0	TRIP12	2	230656737	Frame_Shift_Del	DEL	C	TCGA-5P-A9JY-01A-11D-A42J-10	10629663	230656737	12542636	20	2127											
TRPM8	79054	hgsc.bcm.edu	37	2	234890560	234890561	+	Splice_Site	INS	-	-	TTT			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr2:234890560_234890561insTTT	ENST00000324695.4	+	19	2629		c.e19+1		TRPM8_ENST00000433712.2_Splice_Site	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8						calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCAGAGGATGGTAAGAGTCAAG	0.376																																																0																																										SO:0001630	splice_region_variant	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2589+1->TTT	chr2.hg19:g.234890560_234890561insTTT			A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Splice_Site	INS	ENST00000324695.4	hg19	CCDS33407.1																																																																																				0.376	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	Intron	TTT	234890561	-	TTT	234890560	8	5	30	1	0	1	1	0	0	0	1	0	16597	1275	44	0	2660	0	TRPM8	2	234890560	Splice_Site	INS	-	TCGA-5P-A9JY-01A-11D-A42J-10	4233823	234890560	8308813	21	2128											
PPARG	5468	hgsc.bcm.edu	37	3	12447494	12447494	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr3:12447494C>T	ENST00000287820.6	+	5	854	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	PPARG_ENST00000539812.1_Missense_Mutation_p.H215Y|PPARG_ENST00000397010.2_Missense_Mutation_p.H217Y|PPARG_ENST00000397026.2_Missense_Mutation_p.H223Y|PPARG_ENST00000397012.2_Missense_Mutation_p.H217Y|PPARG_ENST00000397000.1_Missense_Mutation_p.H217Y|PPARG_ENST00000309576.6_Missense_Mutation_p.H217Y|PPARG_ENST00000397015.2_Missense_Mutation_p.H217Y	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	245	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CCTGGCAAAACATTTGTATGA	0.517			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																																Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	0													70	71	71					3																	12447494		2203	4300	6503	SO:0001583	missense	5468			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.733C>T	chr3.hg19:g.12447494C>T	ENSP00000287820:p.His245Tyr		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	hg19	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827607	0.71143	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000397000;ENST00000539812;ENST00000287820	T;T;T;T;T;D;D;T	0.90788	-0.45;-0.45;-0.45;-0.45;-0.45;-2.73;-2.73;-0.45	5.81	5.81	0.92471	Nuclear hormone receptor, ligand-binding (1);	0.153557	0.56097	D	0.000022	D	0.90270	0.6957	M	0.74258	2.255	0.58432	D	0.999999	P;B;P	0.44139	0.68;0.184;0.827	B;B;B	0.36418	0.224;0.099;0.149	D	0.91163	0.4962	10	0.59425	D	0.04	.	20.0896	0.97814	0.0:1.0:0.0:0.0	.	245;231;217	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	Y	217;217;217;217;223;217;215;245	ENSP00000380205:H217Y;ENSP00000312472:H217Y;ENSP00000380210:H217Y;ENSP00000380207:H217Y;ENSP00000380221:H223Y;ENSP00000380196:H217Y;ENSP00000438940:H215Y;ENSP00000287820:H245Y	ENSP00000287820:H245Y	H	+	1	0	PPARG	12422494	1.000000	0.71417	0.869000	0.34112	0.996000	0.88848	5.579000	0.67457	2.741000	0.93983	0.650000	0.86243	CAT		0.517	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		T	12447494	C	T	12447494	3	4	30	1	0	0	0	0	1	0	0	0	12301	478	17	2	751	2	PPARG	3	12447494	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10		12447494	185574936	22	2129											
MYD88	30	hgsc.bcm.edu	37	3	38180443	38180443	+	5'Flank	SNP	C	C	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr3:38180443C>A	ENST00000333167.8	-	0	0				MYD88_ENST00000443433.2_Silent_p.A97A|ACAA1_ENST00000444607.2_5'Flank|ACAA1_ENST00000301810.7_5'Flank|MYD88_ENST00000495303.1_Silent_p.A97A|ACAA1_ENST00000544624.1_5'Flank|MYD88_ENST00000396334.3_Silent_p.A97A|ACAA1_ENST00000450296.1_5'Flank|MYD88_ENST00000424893.1_Silent_p.A97A|MYD88_ENST00000417037.2_Silent_p.A97A	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCCCTGGCGCCTCTGTAGGCC	0.652																																																0													37	43	41					3																	38180443		2203	4299	6502	SO:0001631	upstream_gene_variant	4615			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		chr3.hg19:g.38180443C>A	Exception_encountered		G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	hg19	CCDS2673.1																																																																																				0.652	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		A	38180443	C	A	38180443	1	1	30	0	1	0	0	0	0	0	0	0	10025	668	24	4		4	MYD88	3	38180443	5'Flank	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	25732949	38180443	159841987	23	2130											
ACTR8	93973	hgsc.bcm.edu	37	3	53914039	53914040	+	Frame_Shift_Del	DEL	AC	AC	-	rs149728050	byFrequency	TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr3:53914039_53914040delAC	ENST00000335754.3	-	2	320_321	c.220_221delGT	c.(220-222)gtcfs	p.V74fs	ACTR8_ENST00000231909.7_5'Flank|ACTR8_ENST00000482349.1_5'UTR|AC012467.1_ENST00000410956.1_RNA	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	74					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TCGGGCAATGACGTGAGGAATG	0.475																																																0																																										SO:0001589	frameshift_variant	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.220_221delGT	chr3.hg19:g.53914039_53914040delAC	ENSP00000336842:p.Val74fs		B3KSW7|Q8N566|Q9H663	Frame_Shift_Del	DEL	ENST00000335754.3	hg19	CCDS2875.1																																																																																				0.475	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		-	53914040	AC	-	53914039	7	5	30	1	0	1	0	1	0	0	0	0	217	275	10	0	1701	0	ACTR8	3	53914039	Frame_Shift_Del	DEL	AC	TCGA-5P-A9JY-01A-11D-A42J-10	15733596	53914039	144108391	24	2131	24	2									
ACTR8	93973	hgsc.bcm.edu	37	3	53914042	53914049	+	Frame_Shift_Del	DEL	TGAGGAAT	TGAGGAAT	-	rs560149594		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	TGAGGAAT	TGAGGAAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr3:53914042_53914049delTGAGGAAT	ENST00000335754.3	-	2	311_318	c.211_218delATTCCTCA	c.(211-219)attcctcacfs	p.IPH71fs	ACTR8_ENST00000231909.7_5'Flank|ACTR8_ENST00000482349.1_5'UTR|AC012467.1_ENST00000410956.1_RNA	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	71					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GGCAATGACGTGAGGAATGCTGGCAGGA	0.466																																																0																																										SO:0001589	frameshift_variant	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.211_218delATTCCTCA	chr3.hg19:g.53914042_53914049delTGAGGAAT	ENSP00000336842:p.Ile71fs		B3KSW7|Q8N566|Q9H663	Frame_Shift_Del	DEL	ENST00000335754.3	hg19	CCDS2875.1																																																																																				0.466	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		-	53914049	TGAGGAAT	-	53914042	7	5	30	1	0	1	0	1	0	0	0	0	217	1696	59	0	1704	0	ACTR8	3	53914042	Frame_Shift_Del	DEL	TGAGGAAT	TCGA-5P-A9JY-01A-11D-A42J-10	3	53914042	144108388	25	2132	24	2									
TPRA1	131601	hgsc.bcm.edu	37	3	127298938	127298938	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr3:127298938G>A	ENST00000355552.3	-	2	428	c.52C>T	c.(52-54)Cca>Tca	p.P18S	TPRA1_ENST00000296210.7_Missense_Mutation_p.P18S|TPRA1_ENST00000450633.2_Missense_Mutation_p.P18S|TPRA1_ENST00000489960.1_Missense_Mutation_p.P18S	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	18					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCCAGGGGTGGGGGTAGCGCT	0.647																																																0													107	85	93					3																	127298938		2203	4300	6503	SO:0001583	missense	131601			AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"GPCR / Unclassified : 7TM orphan receptors"	30413	protein-coding gene	gene with protein product	"transmembrane protein 227"	608336	"G protein-coupled receptor 175"	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.52C>T	chr3.hg19:g.127298938G>A	ENSP00000347748:p.Pro18Ser		A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Missense_Mutation	SNP	ENST00000355552.3	hg19	CCDS3042.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357003	0.61293	.	.	ENSG00000163870	ENST00000450633;ENST00000296210;ENST00000355552;ENST00000489960;ENST00000490290;ENST00000469111;ENST00000490643;ENST00000462228	.	.	.	5.05	3.18	0.36537	.	0.304279	0.35970	N	0.002879	T	0.32793	0.0841	L	0.27053	0.805	0.37281	D	0.907849	B;B	0.15473	0.013;0.003	B;B	0.12156	0.007;0.001	T	0.20672	-1.0268	9	0.48119	T	0.1	-4.4783	2.1346	0.03758	0.1559:0.1718:0.4957:0.1766	.	18;18	Q86W33-3;Q86W33	.;TPRA1_HUMAN	S	18	.	ENSP00000296210:P18S	P	-	1	0	TPRA1	128781628	0.880000	0.30214	0.033000	0.17914	0.792000	0.44763	1.076000	0.30729	0.576000	0.29452	0.655000	0.94253	CCA		0.647	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		A	127298938	G	A	127298938	3	1	30	1	0	0	0	0	1	0	0	0	16422	1232	43	2	1109	2	TPRA1	3	127298938	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	73384896	127298938	70723492	26	2133											
CHST2	9435	hgsc.bcm.edu	37	3	142840750	142840750	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr3:142840750delC	ENST00000309575.3	+	2	2476	c.1092delC	c.(1090-1092)cacfs	p.H364fs		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	364					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CGCGAGCTCACCGCATGCCCT	0.697																																																0													20	25	23					3																	142840750		2201	4293	6494	SO:0001589	frameshift_variant	9435			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1092delC	chr3.hg19:g.142840750delC	ENSP00000307911:p.His364fs		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Frame_Shift_Del	DEL	ENST00000309575.3	hg19	CCDS3129.1																																																																																				0.697	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		-	142840750	C	-	142840750	7	5	30	1	0	1	0	1	0	0	0	0	3406	506	18	0	1094	0	CHST2	3	142840750	Frame_Shift_Del	DEL	C	TCGA-5P-A9JY-01A-11D-A42J-10	15541812	142840750	55181680	27	2134											
ABCC5	10057	hgsc.bcm.edu	37	3	183695342	183695342	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr3:183695342delG	ENST00000334444.6	-	10	1607	c.1367delC	c.(1366-1368)tccfs	p.S456fs	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Del_p.S456fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	456	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TTCTGAGAGGGACTTTACTGA	0.488																																																0													82	79	80					3																	183695342		1906	4131	6037	SO:0001589	frameshift_variant	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1367delC	chr3.hg19:g.183695342delG	ENSP00000333926:p.Ser456fs		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Del	DEL	ENST00000334444.6	hg19	CCDS43176.1																																																																																				0.488	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		-	183695342	G	-	183695342	7	5	30	1	0	1	0	1	0	0	0	0	56	1174	41	0	3030	0	ABCC5	3	183695342	Frame_Shift_Del	DEL	G	TCGA-5P-A9JY-01A-11D-A42J-10	40854592	183695342	14327088	28	2135											
HGFAC	3083	hgsc.bcm.edu	37	4	3443800	3443800	+	Silent	SNP	G	G	C	rs372137428		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr4:3443800G>C	ENST00000382774.3	+	1	187	c.72G>C	c.(70-72)ctG>ctC	p.L24L	HGFAC_ENST00000511533.1_Silent_p.L24L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	24					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTGCTGCTGCTGC	0.716													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13355	0.0		0.0	False		,,,				2504	0.0															0								G		5,3433		0,5,1714	13	16	15		72	0.1	1	4		15	0,7164		0,0,3582	no	coding-synonymous	HGFAC	NM_001528.2		0,5,5296	CC,CG,GG		0.0,0.1454,0.0472		24/656	3443800	5,10597	1719	3582	5301	SO:0001819	synonymous_variant	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.72G>C	chr4.hg19:g.3443800G>C			Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	hg19	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			C	3443800	G	C	3443800	2	2	30	1	0	0	0	0	0	0	0	1	7088	1306	46	4		4	HGFAC	4	3443800	Silent	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10		3443800	187710476	29	2136											
AASDH	132949	hgsc.bcm.edu	37	4	57215435	57215435	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr4:57215435C>T	ENST00000205214.6	-	11	2662	c.2482G>A	c.(2482-2484)Gtg>Atg	p.V828M	AASDH_ENST00000502617.1_Missense_Mutation_p.V828M|AASDH_ENST00000513376.1_Missense_Mutation_p.V728M|AASDH_ENST00000451613.1_Missense_Mutation_p.V828M|AASDH_ENST00000434343.2_Missense_Mutation_p.V343M|AASDH_ENST00000602986.1_Missense_Mutation_p.V675M	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	828					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTACCCACCACAATAAAGTTT	0.333																																																0													55	56	56					4																	57215435		2203	4300	6503	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2482G>A	chr4.hg19:g.57215435C>T	ENSP00000205214:p.Val828Met		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	hg19	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381731	0.61845	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.9	-1.03	0.10102	Quinonprotein alcohol dehydrogenase-like (2);	0.658469	0.16385	N	0.216708	T	0.70325	0.3211	M	0.80183	2.485	0.19775	N	0.99995	D;D;D;D	0.63046	0.985;0.992;0.985;0.962	P;D;P;P	0.66196	0.822;0.942;0.853;0.882	T	0.61720	-0.7005	10	0.87932	D	0	-3.5325	8.749	0.34605	0.0:0.5572:0.1027:0.3402	.	675;828;828;828	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	M	828;728;343;828;675;828	ENSP00000205214:V828M;ENSP00000423760:V728M;ENSP00000392158:V343M;ENSP00000409656:V828M;ENSP00000421171:V828M	ENSP00000205214:V828M	V	-	1	0	AASDH	56910192	0.001000	0.12720	0.914000	0.36105	0.953000	0.61014	-0.115000	0.10741	-0.101000	0.12219	-0.355000	0.07637	GTG		0.333	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		T	57215435	C	T	57215435	3	4	30	1	0	0	0	0	1	0	0	0	22	478	17	2	834	2	AASDH	4	57215435	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	53771635	57215435	133938841	30	2137											
HELQ	113510	hgsc.bcm.edu	37	4	84376623	84376624	+	Frame_Shift_Ins	INS	-	-	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr4:84376623_84376624insG	ENST00000295488.3	-	1	385_386	c.223_224insC	c.(223-225)ctcfs	p.L75fs	MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507349.1_5'Flank|MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000510985.1_Frame_Shift_Ins_p.L75fs|HELQ_ENST00000440639.2_5'UTR	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	75					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TCCAAGGACGAGACATTCCGGG	0.574								Other identified genes with known or suspected DNA repair function																																								0																																										SO:0001589	frameshift_variant	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.224dupC	chr4.hg19:g.84376624_84376624dupG	ENSP00000295488:p.Leu75fs		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Frame_Shift_Ins	INS	ENST00000295488.3	hg19	CCDS3603.1																																																																																				0.574	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		G	84376624	-	G	84376623	7	5	30	1	0	1	1	0	0	0	0	0	7049	304	11	0	3153	0	HELQ	4	84376623	Frame_Shift_Ins	INS	-	TCGA-5P-A9JY-01A-11D-A42J-10	27161188	84376623	106777653	31	2138											
NKX6-1	4825	hgsc.bcm.edu	37	4	85418816	85418816	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr4:85418816C>T	ENST00000295886.4	-	1	787	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	NKX6-1_ENST00000515820.2_5'Flank	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	189	Repressor domain. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CTTGGGGTACCGGCCCACGGC	0.751																																																0													5	6	5					4																	85418816		1879	3711	5590	SO:0001583	missense	4825			AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"Homeoboxes / ANTP class : NKL subclass"	7839	protein-coding gene	gene with protein product		602563	"NK homeobox (Drosophila), family 6, A", "NK6 transcription factor related, locus 1 (Drosophila)"	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.566G>A	chr4.hg19:g.85418816C>T	ENSP00000295886:p.Arg189Gln			Missense_Mutation	SNP	ENST00000295886.4	hg19	CCDS3607.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463970	0.84425	.	.	ENSG00000163623	ENST00000295886	D	0.90563	-2.69	3.86	3.86	0.44501	.	0.000000	0.64402	D	0.000007	D	0.92770	0.7701	M	0.62723	1.935	0.80722	D	1	D	0.61697	0.99	D	0.67725	0.953	D	0.90310	0.4336	10	0.11485	T	0.65	-17.2863	14.7331	0.69397	0.0:1.0:0.0:0.0	.	189	P78426	NKX61_HUMAN	Q	189	ENSP00000295886:R189Q	ENSP00000295886:R189Q	R	-	2	0	NKX6-1	85637840	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.960000	0.63673	1.997000	0.58415	0.484000	0.47621	CGG		0.751	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		T	85418816	C	T	85418816	3	4	30	1	0	0	0	0	1	0	0	0	10459	652	23	1	549	1	NKX6-1	4	85418816	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	1042193	85418816	105735460	32	2139											
FAM190A	401145	hgsc.bcm.edu	37	4	91229870	91229871	+	Frame_Shift_Ins	INS	-	-	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr4:91229870_91229871insA	ENST00000509176.1	+	2	723_724	c.435_436insA	c.(436-438)aatfs	p.N146fs	CCSER1_ENST00000432775.2_Frame_Shift_Ins_p.N146fs|CCSER1_ENST00000333691.8_Frame_Shift_Ins_p.N146fs	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	146								p.K145N(1)									CAACTAACAAGAATGTCTTTAT	0.376																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	401145				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.437dupA	chr4.hg19:g.91229872_91229872dupA	ENSP00000425040:p.Asn146fs		Q4W5M0|Q86V57	Frame_Shift_Ins	INS	ENST00000509176.1	hg19	CCDS47099.1																																																																																				0.376	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		A	91229871	-	A	91229870	7	5	30	1	0	1	1	0	0	0	0	0	5523	933	33	0	437	0	FAM190A	4	91229870	Frame_Shift_Ins	INS	-	TCGA-5P-A9JY-01A-11D-A42J-10	5811054	91229870	99924406	33	2140											
CMBL	134147	hgsc.bcm.edu	37	5	10286542	10286543	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr5:10286542_10286543delTC	ENST00000296658.3	-	4	809_810	c.389_390delGA	c.(388-390)ggafs	p.G130fs	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	130						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CCCAGCAGAATCCCACGATGCC	0.421																																																0																																										SO:0001589	frameshift_variant	134147				CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"carboxymethylenebutenolidase-like (Pseudomonas)"			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.389_390delGA	chr5.hg19:g.10286542_10286543delTC	ENSP00000296658:p.Gly130fs		D3DTC7|Q8TED6	Frame_Shift_Del	DEL	ENST00000296658.3	hg19	CCDS3878.1																																																																																				0.421	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		-	10286543	TC	-	10286542	7	5	30	1	0	1	0	1	0	0	0	0	3578	1422	50	0	359	0	CMBL	5	10286542	Frame_Shift_Del	DEL	TC	TCGA-5P-A9JY-01A-11D-A42J-10		10286542	170628718	34	2141											
EDIL3	10085	hgsc.bcm.edu	37	5	83402477	83402477	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr5:83402477G>A	ENST00000296591.5	-	6	1059	c.641C>T	c.(640-642)cCg>cTg	p.P214L	EDIL3_ENST00000380138.3_Missense_Mutation_p.P204L	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	214	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTGAATCCACGGCCATCTGTC	0.403																																																0													152	140	144					5																	83402477		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.641C>T	chr5.hg19:g.83402477G>A	ENSP00000296591:p.Pro214Leu		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	hg19	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072698	0.93950	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.99032	-5.35;-5.35	5.37	5.37	0.77165	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.105630	0.64402	N	0.000003	D	0.99296	0.9754	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.963;1.0	D	0.99556	1.0967	10	0.87932	D	0	-7.3862	19.114	0.93330	0.0:0.0:1.0:0.0	.	204;214	O43854-2;O43854	.;EDIL3_HUMAN	L	214;204	ENSP00000296591:P214L;ENSP00000369483:P204L	ENSP00000296591:P214L	P	-	2	0	EDIL3	83438233	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	9.209000	0.95087	2.528000	0.85240	0.650000	0.86243	CCG		0.403	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		A	83402477	G	A	83402477	3	1	30	1	0	0	0	0	1	0	0	0	4917	1116	39	1	825	1	EDIL3	5	83402477	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	73115935	83402477	97512783	35	2142											
YTHDC2	64848	hgsc.bcm.edu	37	5	112851004	112851005	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr5:112851004_112851005delAG	ENST00000161863.4	+	2	436_437	c.223_224delAG	c.(223-225)agafs	p.R75fs	YTHDC2_ENST00000515883.1_Frame_Shift_Del_p.R75fs	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	75	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CAGTACTGAAAGAGCCTTTATT	0.327																																																0																																										SO:0001589	frameshift_variant	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.223_224delAG	chr5.hg19:g.112851006_112851007delAG	ENSP00000161863:p.Arg75fs		B2RP66	Frame_Shift_Del	DEL	ENST00000161863.4	hg19	CCDS4113.1																																																																																				0.327	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		-	112851005	AG	-	112851004	7	5	30	1	0	1	0	1	0	0	0	0	17502	64	3	0	229	0	YTHDC2	5	112851004	Frame_Shift_Del	DEL	AG	TCGA-5P-A9JY-01A-11D-A42J-10	29448527	112851004	68064256	36	2143											
COMMD10	51397	hgsc.bcm.edu	37	5	115428295	115428295	+	Silent	SNP	T	T	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr5:115428295T>A	ENST00000274458.4	+	4	359	c.297T>A	c.(295-297)atT>atA	p.I99I	COMMD10_ENST00000515539.1_Silent_p.I85I	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	99										endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		TAGAGAACATTCATCTTAGAC	0.393																																																0													93	85	88					5																	115428295		2202	4300	6502	SO:0001819	synonymous_variant	51397			AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.297T>A	chr5.hg19:g.115428295T>A			D3DT07|Q9P077	Silent	SNP	ENST00000274458.4	hg19	CCDS34215.1																																																																																				0.393	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144		A	115428295	T	A	115428295	2	1	30	1	0	0	0	0	0	0	0	1	3717	1771	62	5		5	COMMD10	5	115428295	Silent	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10	2577291	115428295	65486965	37	2144											
PCDHGA2	56113	hgsc.bcm.edu	37	5	140719649	140719649	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr5:140719649G>A	ENST00000394576.2	+	1	1111	c.1111G>A	c.(1111-1113)Gta>Ata	p.V371I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	371	Cadherin 4. {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)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTTTAATGTACATGATAG	0.423																																																0													79	82	81					5																	140719649		2203	4300	6503	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1111G>A	chr5.hg19:g.140719649G>A	ENSP00000378077:p.Val371Ile		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	hg19	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	8.322	0.824576	0.16678	.	.	ENSG00000081853	ENST00000394576	T	0.53206	0.63	5.13	3.26	0.37387	Cadherin (4);Cadherin-like (1);	0.000000	0.37261	U	0.002174	T	0.45276	0.1334	L	0.51422	1.61	0.25788	N	0.98465	B;P	0.44044	0.373;0.825	B;P	0.44696	0.169;0.458	T	0.33163	-0.9879	10	0.46703	T	0.11	.	10.9284	0.47203	0.1626:0.0:0.8374:0.0	.	371;371	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	I	371	ENSP00000378077:V371I	ENSP00000378077:V371I	V	+	1	0	PCDHGA2	140699833	1.000000	0.71417	0.955000	0.39395	0.005000	0.04900	3.236000	0.51336	0.616000	0.30141	-1.165000	0.01757	GTA		0.423	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		A	140719649	G	A	140719649	3	1	30	1	0	0	0	0	1	0	0	0	11556	1377	48	2	1113	2	PCDHGA2	5	140719649	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	25291354	140719649	40195611	38	2145											
SPARC	6678	hgsc.bcm.edu	37	5	151043688	151043688	+	Silent	SNP	G	G	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr5:151043688G>T	ENST00000231061.4	-	9	1156	c.843C>A	c.(841-843)atC>atA	p.I281I	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	281	EF-hand.				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		CATCCAGGGCGATGTACTTGT	0.592																																																0													114	102	106					5																	151043688		2203	4300	6503	SO:0001819	synonymous_variant	6678				CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"cysteine-rich protein", "osteonectin"	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.843C>A	chr5.hg19:g.151043688G>T			D3DQH9|Q6IBK4	Silent	SNP	ENST00000231061.4	hg19	CCDS4318.1																																																																																				0.592	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		T	151043688	G	T	151043688	2	4	30	1	0	0	0	0	0	0	0	1	15000	1048	37	4		4	SPARC	5	151043688	Silent	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	10324039	151043688	29871572	39	2146											
BTN2A1	11120	hgsc.bcm.edu	37	6	26459730	26459730	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr6:26459730C>A	ENST00000312541.5	+	3	352	c.104C>A	c.(103-105)cCc>cAc	p.P35H	BTN2A1_ENST00000541522.1_5'UTR|BTN2A1_ENST00000429381.1_Missense_Mutation_p.P35H|BTN2A1_ENST00000469185.1_Missense_Mutation_p.P35H	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	35	Ig-like V-type.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GTCGTGGGGCCCACTGATCCC	0.512																																																0													89	80	83					6																	26459730		2203	4300	6503	SO:0001583	missense	11120			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.104C>A	chr6.hg19:g.26459730C>A	ENSP00000312158:p.Pro35His		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	hg19	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.742052	0.30865	.	.	ENSG00000112763	ENST00000312541;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T	0.67523	-0.27;-0.27;-0.27	3.12	3.12	0.35913	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000090	T	0.77452	0.4132	M	0.88105	2.93	0.80722	D	1	D;D	0.65815	0.995;0.965	P;P	0.61940	0.896;0.824	T	0.81765	-0.0783	10	0.66056	D	0.02	.	12.4734	0.55799	0.0:1.0:0.0:0.0	.	35;35	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	H	35	ENSP00000312158:P35H;ENSP00000416945:P35H;ENSP00000419043:P35H	ENSP00000265424:P35H	P	+	2	0	BTN2A1	26567709	0.955000	0.32602	0.117000	0.21633	0.002000	0.02628	4.989000	0.63870	2.055000	0.61198	0.561000	0.74099	CCC		0.512	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		A	26459730	C	A	26459730	3	1	30	1	0	0	0	0	1	0	0	0	1562	623	22	4	110	4	BTN2A1	6	26459730	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10		26459730	144655337	40	2147											
TREML1	340205	hgsc.bcm.edu	37	6	41119115	41119115	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr6:41119115T>A	ENST00000426005.2	-	3	427	c.384A>T	c.(382-384)gaA>gaT	p.E128D	TREML1_ENST00000373127.4_Missense_Mutation_p.E128D|TREML1_ENST00000437044.2_Missense_Mutation_p.E17D	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	128	Poly-Glu.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGTCTCTTCTTCTTCCTCTG	0.512																																																0													101	91	94					6																	41119115		2203	4300	6503	SO:0001583	missense	340205			AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"Immunoglobulin superfamily / V-set domain containing"	20434	protein-coding gene	gene with protein product	"TREM-like transcript 1"	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.384A>T	chr6.hg19:g.41119115T>A	ENSP00000402855:p.Glu128Asp		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	hg19	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	T	4.222	0.040141	0.08148	.	.	ENSG00000161911	ENST00000373127;ENST00000437044;ENST00000426005	T;T;T	0.54479	1.55;0.57;1.69	3.39	-0.928	0.10448	.	0.826859	0.10677	N	0.646874	T	0.38746	0.1052	L	0.53249	1.67	0.09310	N	1	P;P;D	0.63880	0.476;0.608;0.993	B;B;P	0.60789	0.277;0.156;0.879	T	0.32134	-0.9918	10	0.19590	T	0.45	.	6.8523	0.24022	0.0:0.5548:0.0:0.4452	.	17;128;128	Q86YW5-3;Q86YW5;Q86YW5-2	.;TRML1_HUMAN;.	D	128;17;128	ENSP00000362219:E128D;ENSP00000400405:E17D;ENSP00000402855:E128D	ENSP00000362219:E128D	E	-	3	2	TREML1	41227093	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	-1.599000	0.02085	-0.379000	0.07906	-0.924000	0.02725	GAA		0.512	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174		A	41119115	T	A	41119115	3	1	30	1	0	0	0	0	1	0	0	0	16477	1606	56	5	565	5	TREML1	6	41119115	Missense_Mutation	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10	14659385	41119115	129995952	41	2148											
PKHD1	5314	hgsc.bcm.edu	37	6	51890829	51890829	+	Missense_Mutation	SNP	G	G	A	rs112182862		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr6:51890829G>A	ENST00000371117.3	-	32	4054	c.3779C>T	c.(3778-3780)gCg>gTg	p.A1260V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1260V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1260	IPT/TIG 7.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGAGCGCCCGCATCGGGTAT	0.592																																																0													40	42	41					6																	51890829		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3779C>T	chr6.hg19:g.51890829G>A	ENSP00000360158:p.Ala1260Val		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239805	0.22711	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.77489	-1.1;-1.1	5.87	2.04	0.26737	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.171700	0.05986	N	0.645227	T	0.48223	0.1488	L	0.47716	1.5	0.09310	N	1	B;B	0.27316	0.145;0.175	B;B	0.19148	0.009;0.024	T	0.35919	-0.9769	10	0.38643	T	0.18	.	3.7884	0.08710	0.2374:0.0:0.452:0.3106	.	1260;1260	P08F94-2;P08F94	.;PKHD1_HUMAN	V	1260	ENSP00000360158:A1260V;ENSP00000341097:A1260V	ENSP00000341097:A1260V	A	-	2	0	PKHD1	51998788	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.611000	0.05622	0.361000	0.24292	0.655000	0.94253	GCG		0.592	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51890829	G	A	51890829	3	1	30	1	0	0	0	0	1	0	0	0	11973	1087	38	1	8628	1	PKHD1	6	51890829	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	10771714	51890829	119224238	42	2149											
PNRC1	10957	hgsc.bcm.edu	37	6	89793815	89793815	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr6:89793815A>T	ENST00000336032.3	+	2	1001	c.884A>T	c.(883-885)aAg>aTg	p.K295M	PNRC1_ENST00000354922.3_Missense_Mutation_p.K110M|PNRC1_ENST00000369472.1_Missense_Mutation_p.K110M	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		GTTCTTCCAAAGCCTCCTAGT	0.423										Multiple Myeloma(7;0.094)																																						0													83	85	84					6																	89793815		2203	4300	6503	SO:0001583	missense	10957			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.884A>T	chr6.hg19:g.89793815A>T	ENSP00000336931:p.Lys295Met		B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	ENST00000336032.3	hg19	CCDS5018.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520456	0.64747	.	.	ENSG00000146278	ENST00000369472;ENST00000336032;ENST00000354922	T;T;T	0.63744	0.1;-0.06;0.1	5.64	5.64	0.86602	.	0.048020	0.85682	D	0.000000	T	0.74680	0.3748	M	0.75777	2.31	0.51012	D	0.9999	D	0.89917	1.0	D	0.91635	0.999	T	0.79052	-0.1961	10	0.87932	D	0	-11.794	15.8451	0.78883	1.0:0.0:0.0:0.0	.	295	Q12796	PNRC1_HUMAN	M	110;295;110	ENSP00000358484:K110M;ENSP00000336931:K295M;ENSP00000347000:K110M	ENSP00000336931:K295M	K	+	2	0	PNRC1	89850534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.453000	0.73488	2.126000	0.65437	0.533000	0.62120	AAG		0.423	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		T	89793815	A	T	89793815	3	4	30	1	0	0	0	0	1	0	0	0	12176	72	3	5	890	5	PNRC1	6	89793815	Missense_Mutation	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10	37902986	89793815	81321252	43	2150											
SESN1	27244	hgsc.bcm.edu	37	6	109315799	109315799	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr6:109315799A>G	ENST00000356644.7	-	6	903	c.809T>C	c.(808-810)tTc>tCc	p.F270S	SESN1_ENST00000436639.2_Missense_Mutation_p.F329S|SESN1_ENST00000302071.2_Missense_Mutation_p.F204S	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	270					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		AACCTCAAAGAAAGAATCACT	0.343																																																0													79	65	70					6																	109315799		2203	4300	6503	SO:0001583	missense	27244			AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.809T>C	chr6.hg19:g.109315799A>G	ENSP00000349061:p.Phe270Ser		Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	hg19	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.312418	0.23908	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.20463	2.07;2.07;2.07	5.7	4.48	0.54585	.	0.284352	0.43579	D	0.000549	T	0.01765	0.0056	N	0.01576	-0.805	0.32805	D	0.500689	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.45056	-0.9287	10	0.07175	T	0.84	-19.8022	7.1186	0.25431	0.7777:0.1489:0.0734:0.0	.	329;270	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	S	329;204;270	ENSP00000393762:F329S;ENSP00000306734:F204S;ENSP00000349061:F270S	ENSP00000306734:F204S	F	-	2	0	SESN1	109422492	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	2.829000	0.48128	2.161000	0.67846	0.482000	0.46254	TTC		0.343	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		G	109315799	A	G	109315799	3	3	30	1	0	0	0	0	1	0	0	0	14130	246	9	3	689	3	SESN1	6	109315799	Missense_Mutation	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10	19521984	109315799	61799268	44	2151											
KIAA1244	57221	hgsc.bcm.edu	37	6	138657620	138657620	+	Silent	SNP	G	G	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr6:138657620G>T	ENST00000251691.4	+	34	6697	c.6531G>T	c.(6529-6531)gtG>gtT	p.V2177V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACATCATTGTGTAGCCGACTC	0.542																																																0													85	75	78					6																	138657620		2203	4300	6503	SO:0001819	synonymous_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6531G>T	chr6.hg19:g.138657620G>T				Silent	SNP	ENST00000251691.4	hg19	CCDS5189.2																																																																																				0.542	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		T	138657620	G	T	138657620	2	4	30	1	0	0	0	0	0	0	0	1	8219	1364	48	4		4	KIAA1244	6	138657620	Silent	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	29341821	138657620	32457447	45	2152											
C6orf35	729515	hgsc.bcm.edu	37	6	157739882	157739887	+	In_Frame_Del	DEL	AGCCCC	AGCCCC	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	AGCCCC	AGCCCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr6:157739882_157739887delAGCCCC	ENST00000400788.4	-	3	355_360	c.254_259delGGGGCT	c.(253-261)tggggctcc>tcc	p.WG85del	TMEM242_ENST00000367144.4_In_Frame_Del_p.WG85del	NM_018452.4	NP_060922.2	Q9NWH2	TM242_HUMAN	transmembrane protein 242	85						integral component of membrane (GO:0016021)											GCATACAGGGAGCCCCAGCCCAGAGC	0.495																																																0																																										SO:0001651	inframe_deletion	729515			AF217510	CCDS43519.1	6q25.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000215712	ENSG00000215712			17206	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 35"	C6orf35			Standard	NM_018452		Approved	BM033	uc003sih.4	Q9NWH2	OTTHUMG00000015893	ENST00000400788.4:c.254_259delGGGGCT	chr6.hg19:g.157739882_157739887delAGCCCC	ENSP00000383594:p.Trp85_Gly86del		B9EJD0|Q9NZ88|Q9P094	In_Frame_Del	DEL	ENST00000400788.4	hg19	CCDS43519.1																																																																																				0.495	TMEM242-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042837.2			-	157739887	AGCCCC	-	157739882	7	5	30	1	0	1	0	1	0	0	0	0	2365	304	11	0	174	0	C6orf35	6	157739882	In_Frame_Del	DEL	AGCCCC	TCGA-5P-A9JY-01A-11D-A42J-10	19082262	157739882	13375185	46	2153											
SP8	221833	hgsc.bcm.edu	37	7	20824956	20824956	+	Silent	SNP	C	C	G	rs201180283		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr7:20824956C>G	ENST00000361443.4	-	3	663	c.426G>C	c.(424-426)ggG>ggC	p.G142G	SP8_ENST00000418710.2_Silent_p.G160G	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	142					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						cgccgccgcccccgccgccgc	0.741																																																0													2	2	2					7																	20824956		542	1367	1909	SO:0001819	synonymous_variant	221833				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.426G>C	chr7.hg19:g.20824956C>G			Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	hg19	CCDS5372.1																																																																																				0.741	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			G	20824956	C	G	20824956	2	3	30	1	0	0	0	0	0	0	0	1	14976	610	22	4		4	SP8	7	20824956	Silent	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10		20824956	138313707	47	2154											
CYP51A1	1595	hgsc.bcm.edu	37	7	91761140	91761140	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr7:91761140G>T	ENST00000003100.8	-	2	404	c.239C>A	c.(238-240)gCc>gAc	p.A80D	LRRD1_ENST00000422722.1_5'UTR|CTB-161K23.1_ENST00000453068.1_RNA|CYP51A1_ENST00000450723.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	74					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	AAATGCTATGGCATGCCCAAG	0.323																																					GBM(70;1100 1190 11592 25836 51397)											0													46	47	47					7																	91761140		2203	4298	6501	SO:0001583	missense	1595			U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"Cytochrome P450s"	2649	protein-coding gene	gene with protein product		601637	"cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.239C>A	chr7.hg19:g.91761140G>T	ENSP00000003100:p.Ala80Asp		A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	ENST00000003100.8	hg19	CCDS5623.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213546	0.95069	.	.	ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000435873	T	0.70399	-0.48	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	M	0.90198	3.095	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.62491	0.87;0.903	D	0.89062	0.3463	10	0.72032	D	0.01	.	19.1465	0.93471	0.0:0.0:1.0:0.0	.	20;74	B3KRC6;Q16850	.;CP51A_HUMAN	D	80;20;24	ENSP00000003100:A80D	ENSP00000003100:A80D	A	-	2	0	CYP51A1	91599076	1.000000	0.71417	0.973000	0.42090	0.998000	0.95712	9.062000	0.93920	2.584000	0.87258	0.650000	0.86243	GCC		0.323	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			T	91761140	G	T	91761140	3	4	30	1	0	0	0	0	1	0	0	0	4197	1203	42	4	1326	4	CYP51A1	7	91761140	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	70936184	91761140	67377523	48	2155											
LAMB4	22798	hgsc.bcm.edu	37	7	107746348	107746348	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr7:107746348G>A	ENST00000388781.3	-	8	867	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	LAMB4_ENST00000418464.1_Missense_Mutation_p.R262W|LAMB4_ENST00000388780.3_Missense_Mutation_p.R262W|LAMB4_ENST00000414450.2_Missense_Mutation_p.R262W|LAMB4_ENST00000205386.4_Missense_Mutation_p.R262W	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	262	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGCTTCCCCGAACAATCATC	0.468																																																0													128	111	117					7																	107746348		2203	4300	6503	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.784C>T	chr7.hg19:g.107746348G>A	ENSP00000373433:p.Arg262Trp		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	hg19	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393627	0.62066	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	4.87	2.02	0.26589	Laminin, N-terminal (3);	0.488989	0.17139	N	0.185530	T	0.81772	0.4893	M	0.83384	2.64	0.39988	D	0.975007	D	0.65815	0.995	P	0.55011	0.766	T	0.78209	-0.2293	10	0.56958	D	0.05	.	3.4717	0.07570	0.1456:0.1338:0.5824:0.1382	.	262	A4D0S4	LAMB4_HUMAN	W	262	ENSP00000205386:R262W;ENSP00000373433:R262W;ENSP00000373432:R262W;ENSP00000402353:R262W;ENSP00000402265:R262W	ENSP00000205386:R262W	R	-	1	2	LAMB4	107533584	0.000000	0.05858	0.024000	0.17045	0.951000	0.60555	0.673000	0.25203	0.233000	0.21120	0.655000	0.94253	CGG		0.468	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		A	107746348	G	A	107746348	3	1	30	1	0	0	0	0	1	0	0	0	8615	1057	37	1	4609	1	LAMB4	7	107746348	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	15985208	107746348	51392315	49	2156											
DNAJB9	4189	hgsc.bcm.edu	37	7	108213747	108213747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr7:108213747C>T	ENST00000249356.3	+	3	1168	c.622C>T	c.(622-624)Caa>Taa	p.Q208*	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	208					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						GACTGTCACTCAACGAAGAGG	0.378																																																0													103	102	102					7																	108213747		2203	4300	6503	SO:0001587	stop_gained	4189			AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.622C>T	chr7.hg19:g.108213747C>T	ENSP00000249356:p.Gln208*			Nonsense_Mutation	SNP	ENST00000249356.3	hg19	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	C	41	8.877952	0.98988	.	.	ENSG00000128590	ENST00000249356	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1901	0.93663	0.0:1.0:0.0:0.0	.	.	.	.	X	208	.	.	Q	+	1	0	DNAJB9	108000983	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.377000	0.79668	2.776000	0.95493	0.655000	0.94253	CAA		0.378	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			T	108213747	C	T	108213747	4	4	30	1	0	0	0	0	0	1	0	0	4629	827	29	2	628	2	DNAJB9	7	108213747	Nonsense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	467399	108213747	50924916	50	2157											
SLC10A5	347051	hgsc.bcm.edu	37	8	82606176	82606176	+	Silent	SNP	A	A	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr8:82606176A>G	ENST00000518568.1	-	1	2233	c.1032T>C	c.(1030-1032)ccT>ccC	p.P344P		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	344						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AACCCAAAGCAGGAACTAAGA	0.363																																																0													64	65	65					8																	82606176		2203	4300	6503	SO:0001819	synonymous_variant	347051				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.1032T>C	chr8.hg19:g.82606176A>G			B2RN26	Silent	SNP	ENST00000518568.1	hg19	CCDS34915.1																																																																																				0.363	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		G	82606176	A	G	82606176	2	3	30	1	0	0	0	0	0	0	0	1	14383	175	7	3		3	SLC10A5	8	82606176	Silent	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10		82606176	63757846	51	2158											
ZFAT	57623	hgsc.bcm.edu	37	8	135614212	135614212	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr8:135614212A>G	ENST00000377838.3	-	6	1924	c.1750T>C	c.(1750-1752)Tcc>Ccc	p.S584P	ZFAT_ENST00000520214.1_Missense_Mutation_p.S572P|ZFAT_ENST00000429442.2_Missense_Mutation_p.S572P|ZFAT_ENST00000523399.1_Missense_Mutation_p.S522P|ZFAT_ENST00000520356.1_Missense_Mutation_p.S572P|ZFAT_ENST00000520727.1_Missense_Mutation_p.S572P|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	584					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGGTCTGAGGAGGAGACCACG	0.587																																																0													30	31	31					8																	135614212		1926	4131	6057	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1750T>C	chr8.hg19:g.135614212A>G	ENSP00000367069:p.Ser584Pro		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	hg19	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	A	2.258	-0.369941	0.05069	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.09723	3.02;2.95;2.96;2.95;2.95;2.96	5.28	0.00147	0.14046	.	0.688237	0.13587	N	0.376881	T	0.09905	0.0243	L	0.27053	0.805	0.09310	N	1	B;P;D;B	0.53151	0.393;0.901;0.958;0.165	B;P;P;B	0.51229	0.163;0.447;0.663;0.059	T	0.21245	-1.0251	10	0.44086	T	0.13	-0.6841	4.3929	0.11350	0.4893:0.3331:0.1776:0.0	.	522;572;572;584	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	P	572;572;572;584;572;471;522;572	ENSP00000427879:S572P;ENSP00000427831:S572P;ENSP00000394501:S572P;ENSP00000367069:S584P;ENSP00000428483:S572P;ENSP00000429091:S522P	ENSP00000326997:S471P	S	-	1	0	ZFAT	135683394	0.000000	0.05858	0.003000	0.11579	0.081000	0.17604	-1.550000	0.02180	-0.116000	0.11893	0.533000	0.62120	TCC		0.587	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		G	135614212	A	G	135614212	3	3	30	1	0	0	0	0	1	0	0	0	17637	304	11	3	2025	3	ZFAT	8	135614212	Missense_Mutation	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10	53008036	135614212	10749810	52	2159											
EPPK1	83481	hgsc.bcm.edu	37	8	144947044	144947044	+	Nonsense_Mutation	SNP	G	G	T	rs377574983	byFrequency	TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr8:144947044G>T	ENST00000525985.1	-	2	449	c.378C>A	c.(376-378)taC>taA	p.Y126*				P58107	EPIPL_HUMAN	epiplakin 1	126						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCACCGCCGTAGGGGTCAG	0.667																																																0													28	33	31					8																	144947044		2024	4180	6204	SO:0001587	stop_gained	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.378C>A	chr8.hg19:g.144947044G>T	ENSP00000436337:p.Tyr126*		Q76E58|Q9NSU9	Nonsense_Mutation	SNP	ENST00000525985.1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.45	1.940545	0.34283	.	.	ENSG00000227184	ENST00000525985	.	.	.	4.44	-7.55	0.01327	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0392	0.71774	0.2859:0.0:0.7141:0.0	.	.	.	.	X	126	.	ENSP00000436337:Y126X	Y	-	3	2	EPPK1	145019032	0.803000	0.28956	0.591000	0.28745	0.074000	0.17049	-0.097000	0.11042	-1.541000	0.01727	-0.481000	0.04817	TAC		0.667	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144947044	G	T	144947044	4	4	30	1	0	0	0	0	0	1	0	0	5192	1140	40	4	6888	4	EPPK1	8	144947044	Nonsense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	9332832	144947044	1416978	53	2160											
DDX58	23586	hgsc.bcm.edu	37	9	32467857	32467857	+	Silent	SNP	G	G	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr9:32467857G>A	ENST00000379883.2	-	15	2245	c.2088C>T	c.(2086-2088)gcC>gcT	p.A696A	DDX58_ENST00000542096.1_Silent_p.A625A|DDX58_ENST00000379868.1_Silent_p.A493A|DDX58_ENST00000545044.1_Silent_p.A493A|DDX58_ENST00000379882.1_Silent_p.A651A	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	696	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CAACTGAGGTGGCAATCAGAA	0.438																																																0													178	151	160					9																	32467857		2203	4300	6503	SO:0001819	synonymous_variant	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2088C>T	chr9.hg19:g.32467857G>A			A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	hg19	CCDS6526.1																																																																																				0.438	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		A	32467857	G	A	32467857	2	1	30	1	0	0	0	0	0	0	0	1	4377	1335	47	2		2	DDX58	9	32467857	Silent	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10		32467857	108745574	54	2161											
RUSC2	9853	hgsc.bcm.edu	37	9	35548396	35548396	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr9:35548396C>A	ENST00000455600.1	+	2	2447	c.1878C>A	c.(1876-1878)caC>caA	p.H626Q		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	626						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGACCCCACTCCAGTGAGA	0.647																																																0													52	49	50					9																	35548396		2203	4300	6503	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1878C>A	chr9.hg19:g.35548396C>A	ENSP00000393922:p.His626Gln		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	hg19	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294418	0.23564	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.20200	2.09;2.09	5.86	1.69	0.24217	.	0.421346	0.23941	N	0.043043	T	0.04679	0.0127	N	0.01874	-0.695	0.21782	N	0.999545	B	0.02656	0.0	B	0.01281	0.0	T	0.38134	-0.9675	10	0.02654	T	1	-3.2088	1.9507	0.03366	0.2064:0.1172:0.4682:0.2082	.	626	Q8N2Y8	RUSC2_HUMAN	Q	626	ENSP00000355177:H626Q;ENSP00000393922:H626Q	ENSP00000355177:H626Q	H	+	3	2	RUSC2	35538396	0.024000	0.19004	1.000000	0.80357	0.905000	0.53344	0.124000	0.15728	0.823000	0.34589	-0.165000	0.13383	CAC		0.647	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		A	35548396	C	A	35548396	3	1	30	1	0	0	0	0	1	0	0	0	13757	564	20	4	1880	4	RUSC2	9	35548396	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	3080539	35548396	105665035	55	2162											
IKBKAP	8518	hgsc.bcm.edu	37	9	111642434	111642434	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr9:111642434delA	ENST00000374647.5	-	32	3665	c.3358delT	c.(3358-3360)tatfs	p.Y1120fs	IKBKAP_ENST00000467959.1_5'UTR|IKBKAP_ENST00000537196.1_Frame_Shift_Del_p.Y771fs	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1120					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AATGCCATATAATTTTTCTGG	0.453																																																0													100	99	99					9																	111642434		2203	4300	6503	SO:0001589	frameshift_variant	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3358delT	chr9.hg19:g.111642434delA	ENSP00000363779:p.Tyr1120fs		Q5JSV2|Q9H327|Q9UG87	Frame_Shift_Del	DEL	ENST00000374647.5	hg19	CCDS6773.1																																																																																				0.453	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			-	111642434	A	-	111642434	7	5	30	1	0	1	0	1	0	0	0	0	7612	362	13	0	664	0	IKBKAP	9	111642434	Frame_Shift_Del	DEL	A	TCGA-5P-A9JY-01A-11D-A42J-10	76094038	111642434	29570997	56	2163											
CEL	1056	hgsc.bcm.edu	37	9	135939799	135939799	+	Silent	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr9:135939799C>T	ENST00000372080.4	+	2	100	c.84C>T	c.(82-84)gcC>gcT	p.A28A	CEL_ENST00000351304.7_Silent_p.A25A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	25	Heparin-binding.				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		AGCTGGGCGCCGTGTACACAG	0.647																																																0													60	69	66					9																	135939799		2074	4198	6272	SO:0001819	synonymous_variant	1056			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.84C>T	chr9.hg19:g.135939799C>T			Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	hg19	CCDS43896.1																																																																																				0.647	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			T	135939799	C	T	135939799	2	4	30	1	0	0	0	0	0	0	0	1	3211	639	23	1		1	CEL	9	135939799	Silent	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	24297365	135939799	5273632	57	2164											
MAN1B1	11253	hgsc.bcm.edu	37	9	139996055	139996055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr9:139996055delG	ENST00000371589.4	+	8	1258	c.1185delG	c.(1183-1185)gtgfs	p.V395fs	MAN1B1_ENST00000474902.1_Frame_Shift_Del_p.V98fs	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	395					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ACAGCACTGTGGCCGAGGTGA	0.577																																																0													53	49	50					9																	139996055		2203	4300	6503	SO:0001589	frameshift_variant	11253			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1185delG	chr9.hg19:g.139996055delG	ENSP00000360645:p.Val395fs		Q5VSG3|Q9BRS9|Q9Y5K7	Frame_Shift_Del	DEL	ENST00000371589.4	hg19	CCDS7029.1																																																																																				0.577	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		-	139996055	G	-	139996055	7	5	30	1	0	1	0	1	0	0	0	0	9214	1335	47	0	1215	0	MAN1B1	9	139996055	Frame_Shift_Del	DEL	G	TCGA-5P-A9JY-01A-11D-A42J-10	4056256	139996055	1217376	58	2165											
CACNA1B	774	hgsc.bcm.edu	37	9	141016005	141016005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr9:141016005C>T	ENST00000371372.1	+	47	6719	c.6574C>T	c.(6574-6576)Cag>Tag	p.Q2192*	CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.Q2193*|CACNA1B_ENST00000277549.5_Nonsense_Mutation_p.Q1386*|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.Q2191*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.Q2190*	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2192					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGCTCCCCCAGACGCCCCT	0.657																																																0													29	34	32					9																	141016005		1959	4128	6087	SO:0001587	stop_gained	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6574C>T	chr9.hg19:g.141016005C>T	ENSP00000360423:p.Gln2192*		B1AQK5	Nonsense_Mutation	SNP	ENST00000371372.1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	56	26.872562	0.99970	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	18.2603	0.90033	0.0:1.0:0.0:0.0	.	.	.	.	X	2192;1386;2190;2191;2193	.	ENSP00000277549:Q1386X	Q	+	1	0	CACNA1B	140135826	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	7.220000	0.78008	2.315000	0.78130	0.555000	0.69702	CAG		0.657	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	141016005	C	T	141016005	4	4	30	1	0	0	0	0	0	1	0	0	2541	595	21	2	6756	2	CACNA1B	9	141016005	Nonsense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	1019950	141016005	197426	59	2166											
PITRM1	10531	hgsc.bcm.edu	37	10	3193438	3193438	+	Splice_Site	SNP	C	C	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr10:3193438C>G	ENST00000224949.4	-	15	1773		c.e15+1		PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Splice_Site|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Splice_Site|PITRM1_ENST00000380994.1_Splice_Site|PITRM1_ENST00000464395.1_5'Flank			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1						positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TTCACAGTGACCTGTCAGGAC	0.502																																																0													53	51	52					10																	3193438		1924	4123	6047	SO:0001630	splice_region_variant	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1738+1G>C	chr10.hg19:g.3193438C>G			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Splice_Site	SNP	ENST00000224949.4	hg19	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.12|14.12	2.441743|2.441743	0.43326|0.43326	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104|ENST00000430362	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76543	.|0.4002	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74581	.|-0.3618	.|4	.|.	.|.	.|.	.|.	19.7539|19.7539	0.96283|0.96283	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|S	-1|216	.|.	.|.	.|R	-|-	.|3	.|2	PITRM1|PITRM1	3183438|3183438	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.152000|0.152000	0.21847|0.21847	5.524000|5.524000	0.67105|0.67105	2.668000|2.668000	0.90789|0.90789	0.561000|0.561000	0.74099|0.74099	.|AGG		0.502	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2		Intron	G	3193438	C	G	3193438	5	3	30	1	0	0	0	0	0	0	1	0	11955	521	18	4	1426	4	PITRM1	10	3193438	Splice_Site	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10		3193438	132341309	60	2167											
C10orf68	79741	hgsc.bcm.edu	37	10	33017895	33017895	+	Missense_Mutation	SNP	C	C	G	rs202220321	byFrequency	TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr10:33017895C>G	ENST00000375030.2	+	12	1312	c.694C>G	c.(694-696)Caa>Gaa	p.Q232E	C10orf68_ENST00000375028.3_Missense_Mutation_p.Q200E|C10orf68_ENST00000375025.4_Missense_Mutation_p.Q224E			Q9H943	CJ068_HUMAN		224										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGAAAAGAAACAAATAAATTC	0.294																																																0													57	57	57					10																	33017895		2202	4296	6498	SO:0001583	missense	79741																														ENST00000375030.2:c.694C>G	chr10.hg19:g.33017895C>G	ENSP00000364170:p.Gln232Glu		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	hg19		.	.	.	.	.	.	.	.	.	.	.	10.24	1.294784	0.23564	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.27720	1.68;1.65;1.67;1.67	2.21	0.181	0.15073	.	.	.	.	.	T	0.29256	0.0728	L	0.44542	1.39	0.09310	N	1	P;B;P;B	0.43578	0.811;0.039;0.811;0.039	P;B;P;B	0.54924	0.764;0.058;0.764;0.058	T	0.18681	-1.0329	9	0.02654	T	1	.	4.3059	0.10947	0.2495:0.4698:0.2806:0.0	.	141;224;200;232	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	E	224;232;200;224;172	ENSP00000303710:Q224E;ENSP00000364170:Q232E;ENSP00000364168:Q200E;ENSP00000364165:Q224E	ENSP00000303710:Q224E	Q	+	1	0	C10orf68	33057901	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.391000	0.07323	0.028000	0.15324	-0.324000	0.08512	CAA		0.294	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			G	33017895	C	G	33017895	3	3	30	1	0	0	0	0	1	0	0	0	1615	479	17	4	696	4	C10orf68	10	33017895	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	29824457	33017895	102516852	61	2168											
FAM21C	253725	hgsc.bcm.edu	37	10	46264959	46264959	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr10:46264959A>T	ENST00000336378.4	+	20	2044	c.1926A>T	c.(1924-1926)gaA>gaT	p.E642D	FAM21C_ENST00000537517.1_Missense_Mutation_p.E620D|FAM21C_ENST00000540872.1_Missense_Mutation_p.E644D|FAM21C_ENST00000374362.2_Missense_Mutation_p.E644D|FAM21C_ENST00000359860.4_Missense_Mutation_p.E586D	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	642					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTAAAGGAGAACCCAGGGATT	0.458																																																0													14	14	14					10																	46264959		1412	3417	4829	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1926A>T	chr10.hg19:g.46264959A>T	ENSP00000337541:p.Glu642Asp		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	hg19		.	.	.	.	.	.	.	.	.	.	A	5.187	0.220030	0.09863	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.08	0.225	0.15325	.	0.636826	0.15981	N	0.235294	T	0.24774	0.0601	L	0.41824	1.3	0.09310	N	0.999993	P;B;B;B	0.43169	0.8;0.013;0.013;0.099	B;B;B;B	0.43331	0.416;0.014;0.014;0.041	T	0.16928	-1.0386	9	0.12766	T	0.61	-5.5005	4.9224	0.13876	0.5671:0.0:0.4329:0.0	.	620;644;642;587	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	D	642;644;620;644;644;586;556	.	ENSP00000337541:E642D	E	+	3	2	FAM21C	45584965	0.420000	0.25457	0.108000	0.21378	0.396000	0.30629	0.238000	0.18004	-0.046000	0.13446	0.448000	0.29417	GAA		0.458	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	46264959	A	T	46264959	3	4	30	1	0	0	0	0	1	0	0	0	5544	40	2	5	2010	5	FAM21C	10	46264959	Missense_Mutation	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10	13247064	46264959	89269788	62	2169											
C10orf71	118461	hgsc.bcm.edu	37	10	50532215	50532217	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	TCA	TCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr10:50532215_50532217delTCA	ENST00000374144.3	+	3	1913_1915	c.1625_1627delTCA	c.(1624-1629)gtcatc>gtc	p.I543del	C10orf71_ENST00000323868.4_In_Frame_Del_p.I543del			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	543										endometrium(1)	1						AGCAACGGTGTCATCCTCCCCAA	0.498																																																0																																										SO:0001651	inframe_deletion	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1625_1627delTCA	chr10.hg19:g.50532215_50532217delTCA	ENSP00000363259:p.Ile543del		A0AVL8	In_Frame_Del	DEL	ENST00000374144.3	hg19	CCDS44387.1																																																																																				0.498	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		-	50532217	TCA	-	50532215	7	5	30	1	0	1	0	1	0	0	0	0	1616	1667	58	0	1627	0	C10orf71	10	50532215	In_Frame_Del	DEL	TCA	TCGA-5P-A9JY-01A-11D-A42J-10	4267256	50532215	85002532	63	2170											
CDK1	983	hgsc.bcm.edu	37	10	62551998	62551998	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr10:62551998T>C	ENST00000395284.3	+	7	888	c.746T>C	c.(745-747)cTa>cCa	p.L249P	CDK1_ENST00000316629.4_Missense_Mutation_p.L192P|CDK1_ENST00000373809.2_Missense_Mutation_p.L192P|CDK1_ENST00000448257.2_Missense_Mutation_p.L249P	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			ovary(1)	1						CCAGGAAGCCTAGCATCCCAT	0.393																																																0													90	89	89					10																	62551998		2203	4300	6503	SO:0001583	missense	983			BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"Cyclin-dependent kinases"	1722	protein-coding gene	gene with protein product		116940	"cell division cycle 2, G1 to S and G2 to M"	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.746T>C	chr10.hg19:g.62551998T>C	ENSP00000378699:p.Leu249Pro		A8K7C4|C9J497|O60764	Missense_Mutation	SNP	ENST00000395284.3	hg19	CCDS44408.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231155	0.79688	.	.	ENSG00000170312	ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	6.02	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.986;0.992;0.988	T	0.70648	-0.4814	10	0.72032	D	0.01	-9.4912	12.7155	0.57113	0.1229:0.0:0.0:0.8771	.	192;255;249	P06493-2;Q5H9N4;P06493	.;.;CDK1_HUMAN	P	249;192;249;192	ENSP00000378699:L249P;ENSP00000325970:L192P;ENSP00000397973:L249P;ENSP00000362915:L192P	ENSP00000325970:L192P	L	+	2	0	CDK1	62222004	1.000000	0.71417	0.636000	0.29352	0.988000	0.76386	6.281000	0.72632	2.311000	0.77944	0.533000	0.62120	CTA		0.393	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786		C	62551998	T	C	62551998	3	2	30	1	0	0	0	0	1	0	0	0	3126	1522	53	3	780	3	CDK1	10	62551998	Missense_Mutation	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10	12019783	62551998	72982749	64	2171											
NEUROG3	50674	hgsc.bcm.edu	37	10	71332599	71332599	+	Silent	SNP	T	T	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr10:71332599T>C	ENST00000242462.4	-	2	230	c.201A>G	c.(199-201)ggA>ggG	p.G67G	RP11-343J3.2_ENST00000428753.1_RNA	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	67					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						GCCGGCTGCGTCCCCCGCGCC	0.697																																																0													35	23	27					10																	71332599		2200	4298	6498	SO:0001819	synonymous_variant	50674			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"Basic helix-loop-helix proteins"	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.201A>G	chr10.hg19:g.71332599T>C			Q5VVI0|Q6DJX6|Q9BY24	Silent	SNP	ENST00000242462.4	hg19	CCDS31212.1																																																																																				0.697	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		C	71332599	T	C	71332599	2	2	30	1	0	0	0	0	0	0	0	1	10356	1654	58	3		3	NEUROG3	10	71332599	Silent	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10	8780601	71332599	64202148	65	2172											
CYP2C18	1562	hgsc.bcm.edu	37	10	96447962	96447962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr10:96447962delA	ENST00000285979.6	+	3	611	c.412delA	c.(412-414)aagfs	p.K138fs	CYP2C18_ENST00000339022.5_Frame_Shift_Del_p.K138fs|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	138					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TGGGATGGGGAAGAGGAGCAT	0.473																																																0													124	116	119					10																	96447962		2203	4300	6503	SO:0001589	frameshift_variant	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.412delA	chr10.hg19:g.96447962delA	ENSP00000285979:p.Lys138fs		B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Frame_Shift_Del	DEL	ENST00000285979.6	hg19	CCDS7435.1																																																																																				0.473	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		-	96447962	A	-	96447962	7	5	30	1	0	1	0	1	0	0	0	0	4167	247	9	0	422	0	CYP2C18	10	96447962	Frame_Shift_Del	DEL	A	TCGA-5P-A9JY-01A-11D-A42J-10	25115363	96447962	39086785	66	2173	25	3									
CYP2C18	1562	hgsc.bcm.edu	37	10	96447963	96447965	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr10:96447963_96447965delAGA	ENST00000285979.6	+	3	612_614	c.413_415delAGA	c.(412-417)aagagg>agg	p.K138del	CYP2C18_ENST00000339022.5_In_Frame_Del_p.K138del|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	138					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.R139G(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GGGATGGGGAAGAGGAGCATCGA	0.468																																																2	Substitution - Missense(2)	lung(2)																																								SO:0001651	inframe_deletion	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.413_415delAGA	chr10.hg19:g.96447963_96447965delAGA	ENSP00000285979:p.Lys138del		B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	In_Frame_Del	DEL	ENST00000285979.6	hg19	CCDS7435.1																																																																																				0.468	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		-	96447965	AGA	-	96447963	7	5	30	1	0	1	0	1	0	0	0	0	4167	72	3	0	423	0	CYP2C18	10	96447963	In_Frame_Del	DEL	AGA	TCGA-5P-A9JY-01A-11D-A42J-10	1	96447963	39086784	67	2174	25	3									
CYP2C18	1562	hgsc.bcm.edu	37	10	96447965	96447965	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr10:96447965delA	ENST00000285979.6	+	3	614	c.415delA	c.(415-417)aggfs	p.R139fs	CYP2C18_ENST00000339022.5_Frame_Shift_Del_p.R139fs|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	139					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.R139G(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GATGGGGAAGAGGAGCATCGA	0.468																																																2	Substitution - Missense(2)	lung(2)											124	117	120					10																	96447965		2203	4300	6503	SO:0001589	frameshift_variant	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.415delA	chr10.hg19:g.96447965delA	ENSP00000285979:p.Arg139fs		B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Frame_Shift_Del	DEL	ENST00000285979.6	hg19	CCDS7435.1																																																																																				0.468	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		-	96447965	A	-	96447965	7	5	30	1	0	1	0	1	0	0	0	0	4167	295	11	0	425	0	CYP2C18	10	96447965	Frame_Shift_Del	DEL	A	TCGA-5P-A9JY-01A-11D-A42J-10	2	96447965	39086782	68	2175	25	3									
CNNM2	54805	hgsc.bcm.edu	37	10	104679232	104679232	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr10:104679232delT	ENST00000369878.4	+	1	1183	c.995delT	c.(994-996)atcfs	p.I332fs	CNNM2_ENST00000433628.2_Frame_Shift_Del_p.I332fs|CNNM2_ENST00000369875.3_Frame_Shift_Del_p.I332fs	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	332	DUF21.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACGCTCACCATCCTGCTCGAC	0.627																																																0													70	60	63					10																	104679232		2203	4299	6502	SO:0001589	frameshift_variant	54805			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.995delT	chr10.hg19:g.104679232delT	ENSP00000358894:p.Ile332fs		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Frame_Shift_Del	DEL	ENST00000369878.4	hg19	CCDS44474.1																																																																																				0.627	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		-	104679232	T	-	104679232	7	5	30	1	0	1	0	1	0	0	0	0	3615	1435	50	0	997	0	CNNM2	10	104679232	Frame_Shift_Del	DEL	T	TCGA-5P-A9JY-01A-11D-A42J-10	8231267	104679232	30855515	69	2176											
PHRF1	57661	hgsc.bcm.edu	37	11	605692	605692	+	Silent	SNP	C	C	T	rs374393458		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr11:605692C>T	ENST00000264555.5	+	12	1550	c.1422C>T	c.(1420-1422)ccC>ccT	p.P474P	PHRF1_ENST00000533464.1_Silent_p.P470P|PHRF1_ENST00000413872.2_Silent_p.P472P|PHRF1_ENST00000416188.2_Silent_p.P473P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	474					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCACCAGCCCGTGGCCAGGC	0.637																																																0								C		1,3837		0,1,1918	47	53	51		1419	-9.6	0.8	11		51	0,8238		0,0,4119	no	coding-synonymous	PHRF1	NM_020901.2		0,1,6037	TT,TC,CC		0.0,0.0261,0.0083		473/1649	605692	1,12075	1919	4119	6038	SO:0001819	synonymous_variant	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1422C>T	chr11.hg19:g.605692C>T			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	hg19																																																																																					0.637	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		T	605692	C	T	605692	2	4	30	1	0	0	0	0	0	0	0	1	11863	639	23	1		1	PHRF1	11	605692	Silent	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10		605692	134400824	70	2177											
OSBPL5	114879	hgsc.bcm.edu	37	11	3111822	3111822	+	Silent	SNP	G	G	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr11:3111822G>C	ENST00000263650.7	-	20	2523	c.2364C>G	c.(2362-2364)ctC>ctG	p.L788L	OSBPL5_ENST00000525498.1_Silent_p.L699L|OSBPL5_ENST00000478260.1_Silent_p.L242L|OSBPL5_ENST00000348039.5_Silent_p.L720L|OSBPL5_ENST00000542243.1_Silent_p.L419L|OSBPL5_ENST00000389989.3_Silent_p.L720L	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	788					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTCGTCTGAGAGCTCTGGGC	0.677																																																0													67	65	66					11																	3111822		2202	4298	6500	SO:0001819	synonymous_variant	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2364C>G	chr11.hg19:g.3111822G>C			A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	hg19	CCDS31344.1																																																																																				0.677	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			C	3111822	G	C	3111822	2	2	30	1	0	0	0	0	0	0	0	1	11282	929	33	4		4	OSBPL5	11	3111822	Silent	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	2506130	3111822	131894694	71	2178											
RRM1	6240	hgsc.bcm.edu	37	11	4143450	4143450	+	Splice_Site	SNP	G	G	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr11:4143450G>C	ENST00000300738.5	+	11	1322	c.1118G>C	c.(1117-1119)aGt>aCt	p.S373T	RRM1_ENST00000423050.2_Splice_Site_p.S276T|RRM1_ENST00000537197.1_Splice_Site_p.S35T|RRM1_ENST00000534285.1_Splice_Site_p.S151T|RRM1_ENST00000528470.1_3'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	373					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CTATATGCAAGGTATGGGAAA	0.353																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)											0													143	136	138					11																	4143450		2201	4298	6499	SO:0001630	splice_region_variant	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1118+1G>C	chr11.hg19:g.4143450G>C			Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	hg19	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307194	0.40795	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.7	4.79	0.61399	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (1);	0.340623	0.37530	N	0.002041	T	0.33089	0.0851	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11084	-1.0602	10	0.59425	D	0.04	-3.1579	11.9367	0.52878	0.0801:0.0:0.9199:0.0	.	373	P23921	RIR1_HUMAN	T	373;276;286;151;151;35	ENSP00000300738:S373T;ENSP00000390539:S276T;ENSP00000431464:S151T;ENSP00000442148:S35T	ENSP00000300738:S373T	S	+	2	0	RRM1	4100026	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	4.984000	0.63838	1.409000	0.46915	0.557000	0.71058	AGT		0.353	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033	Missense_Mutation	C	4143450	G	C	4143450	5	2	30	1	0	0	0	0	0	0	1	0	13687	1014	35	4	1160	4	RRM1	11	4143450	Splice_Site	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	1031628	4143450	130863066	72	2179											
TCP11L1	55346	hgsc.bcm.edu	37	11	33083259	33083259	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr11:33083259G>T	ENST00000334274.4	+	7	1359	c.959G>T	c.(958-960)aGg>aTg	p.R320M	TCP11L1_ENST00000432887.1_Missense_Mutation_p.R320M|TCP11L1_ENST00000531632.2_Missense_Mutation_p.R320M|TCP11L1_ENST00000324357.9_Missense_Mutation_p.R99M	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	320						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CACCTCCAGAGGCCGTTCCCC	0.532																																																0													32	30	31					11																	33083259		2202	4298	6500	SO:0001583	missense	55346			BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.959G>T	chr11.hg19:g.33083259G>T	ENSP00000335595:p.Arg320Met		D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	hg19	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295641	0.23564	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.42	1.52	0.23074	.	0.300219	0.42548	D	0.000689	T	0.17831	0.0428	M	0.64997	1.995	0.09310	N	1	P	0.42941	0.794	P	0.45377	0.478	T	0.06144	-1.0843	10	0.72032	D	0.01	-4.844	8.6816	0.34212	0.4363:0.0:0.5637:0.0	.	320	Q9NUJ3	T11L1_HUMAN	M	320;320;320;99	ENSP00000335595:R320M;ENSP00000433067:R320M;ENSP00000395070:R320M;ENSP00000316279:R99M	ENSP00000316279:R99M	R	+	2	0	TCP11L1	33039835	0.995000	0.38212	0.002000	0.10522	0.003000	0.03518	1.522000	0.35921	0.275000	0.22094	-0.143000	0.13931	AGG		0.532	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		T	33083259	G	T	33083259	3	4	30	1	0	0	0	0	1	0	0	0	15719	1000	35	4	981	4	TCP11L1	11	33083259	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	28939809	33083259	101923257	73	2180											
MMP27	64066	hgsc.bcm.edu	37	11	102562558	102562558	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr11:102562558C>G	ENST00000260229.4	-	10	1572	c.1481G>C	c.(1480-1482)aGt>aCt	p.S494T		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	494	Required for retention in the endoplasmic reticulum. {ECO:0000269|PubMed:24548619}.				collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CAAGCTTAAACTCTTATGATA	0.299																																																0													114	113	113					11																	102562558		2203	4295	6498	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1481G>C	chr11.hg19:g.102562558C>G	ENSP00000260229:p.Ser494Thr		Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	hg19	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456849	0.26161	.	.	ENSG00000137675	ENST00000260229	T	0.13538	2.58	5.83	1.67	0.24075	.	0.496244	0.18873	N	0.128791	T	0.07638	0.0192	L	0.34521	1.04	0.09310	N	1	B	0.27498	0.18	B	0.22601	0.04	T	0.41016	-0.9532	10	0.02654	T	1	.	8.7498	0.34609	0.0:0.6807:0.0:0.3193	.	494	Q9H306	MMP27_HUMAN	T	494	ENSP00000260229:S494T	ENSP00000260229:S494T	S	-	2	0	MMP27	102067768	0.001000	0.12720	0.045000	0.18777	0.845000	0.48019	0.104000	0.15313	0.026000	0.15269	0.563000	0.77884	AGT		0.299	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		G	102562558	C	G	102562558	3	3	30	1	0	0	0	0	1	0	0	0	9666	565	20	4	64	4	MMP27	11	102562558	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	69479299	102562558	32443958	74	2181											
IFT46	56912	hgsc.bcm.edu	37	11	118416523	118416523	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr11:118416523T>G	ENST00000264021.3	-	10	1136	c.718A>C	c.(718-720)Att>Ctt	p.I240L	IFT46_ENST00000530872.1_Missense_Mutation_p.I291L|TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000264020.2_Missense_Mutation_p.I291L|TMEM25_ENST00000442938.2_Intron	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	240					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						ATCATGTCAATGTACTCTGCC	0.507																																																0													179	148	158					11																	118416523		2200	4295	6495	SO:0001583	missense	56912			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.718A>C	chr11.hg19:g.118416523T>G	ENSP00000264021:p.Ile240Leu		A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	hg19	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180313	0.57800	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872	T;T;T	0.46819	0.87;0.86;0.86	6.03	3.76	0.43208	.	0.364645	0.29335	N	0.012458	T	0.43277	0.1240	M	0.65975	2.015	0.37231	D	0.905678	B;P;B	0.34462	0.139;0.454;0.114	B;B;B	0.31016	0.06;0.123;0.078	T	0.53078	-0.8489	10	0.62326	D	0.03	-8.0521	9.6786	0.40056	0.0:0.1401:0.0:0.8599	.	291;240;291	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	L	240;291;291	ENSP00000264021:I240L;ENSP00000264020:I291L;ENSP00000432384:I291L	ENSP00000264020:I291L	I	-	1	0	IFT46	117921733	1.000000	0.71417	0.997000	0.53966	0.835000	0.47333	1.106000	0.31098	1.109000	0.41680	0.533000	0.62120	ATT		0.507	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		G	118416523	T	G	118416523	3	3	30	1	0	0	0	0	1	0	0	0	7562	1464	51	5	208	5	IFT46	11	118416523	Missense_Mutation	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10	15853965	118416523	16589993	75	2182											
NOP2	4839	hgsc.bcm.edu	37	12	6672800	6672803	+	Frame_Shift_Del	DEL	GGGG	GGGG	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	GGGG	GGGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr12:6672800_6672803delGGGG	ENST00000322166.5	-	7	786_789	c.665_668delCCCC	c.(664-669)ccccctfs	p.PP222fs	NOP2_ENST00000545200.1_Frame_Shift_Del_p.PP218fs|NOP2_ENST00000537442.1_Frame_Shift_Del_p.PP222fs|NOP2_ENST00000541778.1_Frame_Shift_Del_p.PP218fs|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Frame_Shift_Del_p.PP255fs|NOP2_ENST00000399466.2_Frame_Shift_Del_p.PP218fs	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	222					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTCCCCAGCAGGGGGCAGCACAAA	0.559											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.665_668delCCCC	chr12.hg19:g.6672800_6672803delGGGG	ENSP00000313272:p.Pro222fs	635	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Frame_Shift_Del	DEL	ENST00000322166.5	hg19	CCDS58203.1																																																																																				0.559	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		-	6672803	GGGG	-	6672800	7	5	30	1	0	1	0	1	0	0	0	0	10540	1000	35	0	1810	0	NOP2	12	6672800	Frame_Shift_Del	DEL	GGGG	TCGA-5P-A9JY-01A-11D-A42J-10		6672800	127179095	76	2183											
CAND1	55832	hgsc.bcm.edu	37	12	67696393	67696393	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr12:67696393C>A	ENST00000545606.1	+	8	1728	c.1291C>A	c.(1291-1293)Cag>Aag	p.Q431K		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	431					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GCTTCAGAGTCAGGTGGGTTT	0.363																																																0													88	78	81					12																	67696393		2203	4300	6503	SO:0001583	missense	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1291C>A	chr12.hg19:g.67696393C>A	ENSP00000442318:p.Gln431Lys		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	hg19	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051857	0.93793	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	T;T	0.65364	-0.15;-0.15	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80555	0.4645	M	0.85630	2.765	0.80722	D	1	P;D	0.61697	0.593;0.99	P;P	0.61397	0.828;0.888	T	0.82116	-0.0616	9	.	.	.	-6.9157	19.547	0.95302	0.0:1.0:0.0:0.0	.	431;431	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	K	431;431;273;139	ENSP00000442318:Q431K;ENSP00000444089:Q139K	.	Q	+	1	0	CAND1	65982660	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.719000	0.84751	2.699000	0.92147	0.555000	0.69702	CAG		0.363	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		A	67696393	C	A	67696393	3	1	30	1	0	0	0	0	1	0	0	0	2617	827	29	4	1321	4	CAND1	12	67696393	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	61023593	67696393	66155502	77	2184											
NAV3	89795	hgsc.bcm.edu	37	12	78593299	78593299	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr12:78593299G>T	ENST00000397909.2	+	37	6876	c.6703G>T	c.(6703-6705)Gac>Tac	p.D2235Y	NAV3_ENST00000541270.1_Missense_Mutation_p.D65Y|NAV3_ENST00000266692.7_Missense_Mutation_p.D2036Y|NAV3_ENST00000228327.6_Missense_Mutation_p.D2213Y|NAV3_ENST00000536525.2_Missense_Mutation_p.D2213Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2235						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTTCTTCTGACGTTACCAT	0.383										HNSCC(70;0.22)																																						0													80	78	79					12																	78593299		1863	4091	5954	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6703G>T	chr12.hg19:g.78593299G>T	ENSP00000381007:p.Asp2235Tyr		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.985795|3.985795	0.74589|0.74589	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270|ENST00000552895;ENST00000551162	T;T;T;T;T|.	0.53206|.	1.3;1.31;1.3;1.28;0.63|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.41396|.	U|.	0.000895|.	D|.	0.84593|.	0.5506|.	M|M	0.87900|0.87900	2.915|2.915	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	0.974;1.0;0.911;1.0|.	P;D;P;D|.	0.91635|.	0.829;0.998;0.504;0.999|.	D|.	0.85408|.	0.1135|.	10|.	0.87932|.	D|.	0|.	-21.054|-21.054	20.2245|20.2245	0.98337|0.98337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2213;2036;2235;2213|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	Y|L	2213;2235;2213;2036;65|1107;102	ENSP00000446132:D2213Y;ENSP00000381007:D2235Y;ENSP00000228327:D2213Y;ENSP00000266692:D2036Y;ENSP00000444918:D65Y|.	ENSP00000228327:D2213Y|.	D|X	+|+	1|2	0|2	NAV3|NAV3	77117430|77117430	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.813000|9.813000	0.99286|0.99286	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	GAC|TGA		0.383	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		T	78593299	G	T	78593299	3	4	30	1	0	0	0	0	1	0	0	0	10187	1290	45	4	6779	4	NAV3	12	78593299	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	10896906	78593299	55258596	78	2185											
RBM19	9904	hgsc.bcm.edu	37	12	114377884	114377884	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr12:114377884A>T	ENST00000545145.2	-	15	1897	c.1819T>A	c.(1819-1821)Ttc>Atc	p.F607I	RBM19_ENST00000392561.3_Missense_Mutation_p.F607I|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.F607I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	607	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AAATGGCCGAAGGTCTCCTGC	0.637																																																0													66	71	69					12																	114377884		2203	4300	6503	SO:0001583	missense	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1819T>A	chr12.hg19:g.114377884A>T	ENSP00000442053:p.Phe607Ile		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	hg19	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.382304	0.61845	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.15139	2.45;2.45;2.45	4.3	4.3	0.51218	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71695	-0.4515	10	0.87932	D	0	-14.4911	13.458	0.61210	1.0:0.0:0.0:0.0	.	607	Q9Y4C8	RBM19_HUMAN	I	607	ENSP00000442053:F607I;ENSP00000376344:F607I;ENSP00000261741:F607I	ENSP00000261741:F607I	F	-	1	0	RBM19	112862267	1.000000	0.71417	0.249000	0.24280	0.148000	0.21650	8.500000	0.90498	1.600000	0.50102	0.459000	0.35465	TTC		0.637	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114377884	A	T	114377884	3	4	30	1	0	0	0	0	1	0	0	0	13127	72	3	5	1103	5	RBM19	12	114377884	Missense_Mutation	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10	35784585	114377884	19474011	79	2186											
KNTC1	9735	hgsc.bcm.edu	37	12	123052914	123052914	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr12:123052914C>T	ENST00000333479.7	+	21	1888	c.1711C>T	c.(1711-1713)Cat>Tat	p.H571Y	KNTC1_ENST00000450485.2_Missense_Mutation_p.H534Y	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	571					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTGGCTTCGACATCGGGTAAC	0.343																																																0													150	145	147					12																	123052914		1859	4093	5952	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1711C>T	chr12.hg19:g.123052914C>T	ENSP00000328236:p.His571Tyr		A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	hg19	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370581	0.42003	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.32272	1.46;1.9	5.36	5.36	0.76844	.	0.178872	0.50627	D	0.000105	T	0.33381	0.0861	L	0.55103	1.725	0.80722	D	1	B;B	0.32071	0.068;0.355	B;B	0.29267	0.009;0.1	T	0.12016	-1.0564	10	0.51188	T	0.08	-13.3748	19.0977	0.93260	0.0:1.0:0.0:0.0	.	534;571	E7ES84;P50748	.;KNTC1_HUMAN	Y	534;571	ENSP00000397992:H534Y;ENSP00000328236:H571Y	ENSP00000328236:H571Y	H	+	1	0	KNTC1	121618867	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.016000	0.40971	2.516000	0.84829	0.460000	0.39030	CAT		0.343	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			T	123052914	C	T	123052914	3	4	30	1	0	0	0	0	1	0	0	0	8430	478	17	2	1789	2	KNTC1	12	123052914	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	8675030	123052914	10798981	80	2187											
HSPH1	10808	hgsc.bcm.edu	37	13	31728852	31728852	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr13:31728852T>C	ENST00000320027.5	-	4	691	c.347A>G	c.(346-348)cAg>cGg	p.Q116R	HSPH1_ENST00000380406.5_Intron|HSPH1_ENST00000380405.4_Missense_Mutation_p.Q116R|HSPH1_ENST00000429785.2_Missense_Mutation_p.Q13R|HSPH1_ENST00000445273.2_Missense_Mutation_p.Q118R	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	116					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGTTATCTGCTCCACACT	0.343																																																0													157	137	144					13																	31728852		2203	4300	6503	SO:0001583	missense	10808			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.347A>G	chr13.hg19:g.31728852T>C	ENSP00000318687:p.Gln116Arg		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	hg19	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235880	0.39498	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T	0.05717	5.3;5.3;5.3;3.4	6.08	6.08	0.98989	.	0.134584	0.50627	D	0.000112	T	0.27697	0.0681	M	0.77103	2.36	0.32658	N	0.518415	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.992;1.0;1.0;1.0;1.0;1.0	T	0.30621	-0.9972	10	0.66056	D	0.02	-17.9521	16.643	0.85134	0.0:0.0:0.0:1.0	.	13;167;167;118;116;116	B4DY72;E7EUG1;B4DZB4;B4DYH1;Q92598-2;Q92598	.;.;.;.;.;HS105_HUMAN	R	116;116;118;13;167	ENSP00000318687:Q116R;ENSP00000369768:Q116R;ENSP00000396090:Q118R;ENSP00000388778:Q13R	ENSP00000318687:Q116R	Q	-	2	0	HSPH1	30626852	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	7.698000	0.84413	2.330000	0.79161	0.533000	0.62120	CAG		0.343	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			C	31728852	T	C	31728852	3	2	30	1	0	0	0	0	1	0	0	0	7433	1580	55	3	2289	3	HSPH1	13	31728852	Missense_Mutation	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10		31728852	83441026	81	2188											
HNRNPC	3183	hgsc.bcm.edu	37	14	21679430	21679430	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr14:21679430C>A	ENST00000320084.7	-	8	1112	c.873G>T	c.(871-873)gaG>gaT	p.E291D	HNRNPC_ENST00000554455.1_Missense_Mutation_p.E291D|HNRNPC_ENST00000420743.2_Missense_Mutation_p.E291D|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000555914.1_Missense_Mutation_p.E277D|HNRNPC_ENST00000556628.1_Missense_Mutation_p.E211D|HNRNPC_ENST00000449098.1_Missense_Mutation_p.E278D|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000555883.1_Missense_Mutation_p.E235D|HNRNPC_ENST00000430246.2_Missense_Mutation_p.E278D|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000555309.1_Missense_Mutation_p.E290D|HNRNPC_ENST00000556897.1_Missense_Mutation_p.E278D|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000554969.1_Missense_Mutation_p.E278D|HNRNPC_ENST00000553300.1_Missense_Mutation_p.E278D|HNRNPC_ENST00000557201.1_Missense_Mutation_p.E291D	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	291	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CCTCTCCTTCCTCAGCCTCTT	0.488																																					NSCLC(108;607 2244 12726 38757)											0													124	134	131					14																	21679430		2138	4253	6391	SO:0001583	missense	3183				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"RNA binding motif (RRM) containing"	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.873G>T	chr14.hg19:g.21679430C>A	ENSP00000319690:p.Glu291Asp		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	ENST00000320084.7	hg19	CCDS41915.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377766	0.61735	.	.	ENSG00000092199	ENST00000320084;ENST00000449098;ENST00000554969;ENST00000554455;ENST00000430246;ENST00000400042;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000555883;ENST00000557201;ENST00000553300;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554539	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15603	3.0;2.83;2.83;3.0;2.83;2.83;3.0;2.41;2.57;3.0;2.83;2.83;3.0;2.65;2.41	5.85	4.78	0.61160	.	0.170959	0.35179	U	0.003390	T	0.35098	0.0920	M	0.66939	2.045	0.39716	D	0.971396	D;D;D;P;D	0.71674	0.992;0.998;0.974;0.956;0.974	D;D;D;D;D	0.80764	0.986;0.994;0.969;0.931;0.969	T	0.07385	-1.0775	10	0.56958	D	0.05	.	7.8423	0.29406	0.0:0.7836:0.0:0.2164	.	211;235;277;291;278	P07910-3;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;HNRPC_HUMAN;.	D	291;278;278;291;278;87;277;290;211;235;291;278;278;291;199;291;175	ENSP00000319690:E291D;ENSP00000404559:E278D;ENSP00000450725:E278D;ENSP00000451291:E291D;ENSP00000442816:E278D;ENSP00000451708:E277D;ENSP00000450790:E290D;ENSP00000451652:E211D;ENSP00000450629:E235D;ENSP00000452276:E291D;ENSP00000450544:E278D;ENSP00000451176:E278D;ENSP00000404848:E291D;ENSP00000450601:E199D;ENSP00000452545:E175D	ENSP00000319690:E291D	E	-	3	2	HNRNPC	20749270	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.775000	0.38584	2.755000	0.94549	0.655000	0.94253	GAG		0.488	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			A	21679430	C	A	21679430	3	1	30	1	0	0	0	0	1	0	0	0	7264	680	24	4	51	4	HNRNPC	14	21679430	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10		21679430	85670110	82	2189											
WDR20	91833	hgsc.bcm.edu	37	14	102675867	102675867	+	Missense_Mutation	SNP	A	A	G	rs374240865		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr14:102675867A>G	ENST00000342702.3	+	3	1391	c.1360A>G	c.(1360-1362)Att>Gtt	p.I454V	WDR20_ENST00000499851.2_Missense_Mutation_p.I197V|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000335263.5_Missense_Mutation_p.I454V|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Missense_Mutation_p.I281V|WDR20_ENST00000556807.1_Missense_Mutation_p.I393V|WDR20_ENST00000556511.2_Missense_Mutation_p.I393V|WDR20_ENST00000424963.2_Missense_Mutation_p.I330V|WDR20_ENST00000454394.2_Missense_Mutation_p.I485V	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	454										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GGACGGGGCCATTGCTTCTGG	0.532											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0								A	,,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	102	101	102		,,1177,1453,1396,1360,1360,1177	-0.9	0.9	14		102	0,8600		0,0,4300	no	utr-3,intron,missense,missense,missense,missense,missense,missense	WDR20	NM_001242414.1,NM_001242415.1,NM_001242416.1,NM_001242417.1,NM_001242418.1,NM_144574.3,NM_181291.2,NM_181308.2	,,29,29,29,29,29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,,benign,benign,benign,benign,benign,benign	,,393/521,485/601,466/582,454/570,454/582,393/509	102675867	1,13005	2203	4300	6503	SO:0001583	missense	91833			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"WD repeat domain containing"	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1360A>G	chr14.hg19:g.102675867A>G	ENSP00000341037:p.Ile454Val	1368	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	hg19	CCDS9969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.973|0.973	-0.699494|-0.699494	0.03279|0.03279	2.27E-4|2.27E-4	0.0|0.0	ENSG00000140153|ENSG00000140153	ENST00000556511|ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000499851;ENST00000454394;ENST00000401892;ENST00000545563	.|T;T;T;T;T;T;T	.|0.57107	.|0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.73|5.73	-0.897|-0.897	0.10553|0.10553	.|.	.|0.202343	.|0.51477	.|N	.|0.000097	T|T	0.31358|0.31358	0.0794|0.0794	L|L	0.34521|0.34521	1.04|1.04	0.45883|0.45883	D|D	0.998733|0.998733	.|B;B;B;B;B;B;B	.|0.06786	.|0.0;0.0;0.0;0.0;0.0;0.001;0.0	.|B;B;B;B;B;B;B	.|0.04013	.|0.001;0.0;0.001;0.001;0.001;0.0;0.0	T|T	0.10222|0.10222	-1.0639|-1.0639	5|10	.|0.12430	.|T	.|0.62	.|.	6.2989|6.2989	0.21101|0.21101	0.6201:0.1198:0.2601:0.0|0.6201:0.1198:0.2601:0.0	.|.	.|485;466;393;454;393;330;454	.|E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3	.|.;.;.;.;.;.;WDR20_HUMAN	R|V	384|454;393;330;454;393;197;485;384;281	.|ENSP00000335434:I454V;ENSP00000395793:I330V;ENSP00000341037:I454V;ENSP00000450636:I393V;ENSP00000443641:I197V;ENSP00000406084:I485V;ENSP00000437927:I281V	.|ENSP00000299135:I393V	H|I	+|+	2|1	0|0	WDR20|WDR20	101745620|101745620	1.000000|1.000000	0.71417|0.71417	0.860000|0.860000	0.33809|0.33809	0.999000|0.999000	0.98932|0.98932	1.243000|1.243000	0.32767|0.32767	-0.385000|-0.385000	0.07833|0.07833	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.532	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		G	102675867	A	G	102675867	3	3	30	1	0	0	0	0	1	0	0	0	17285	217	8	3	1387	3	WDR20	14	102675867	Missense_Mutation	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10	80996437	102675867	4673673	83	2190											
AQR	9716	hgsc.bcm.edu	37	15	35196623	35196623	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr15:35196623T>G	ENST00000156471.5	-	19	2140	c.1915A>C	c.(1915-1917)Acc>Ccc	p.T639P		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	639					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ATAGTATTGGTCATATCTTGT	0.348																																																0													111	101	104					15																	35196623		1810	4073	5883	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1915A>C	chr15.hg19:g.35196623T>G	ENSP00000156471:p.Thr639Pro		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	hg19	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328239	0.41197	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93763	-3.28	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.91226	0.7235	M	0.61703	1.905	0.48975	D	0.999738	P	0.46706	0.883	B	0.38458	0.274	D	0.91292	0.5060	10	0.42905	T	0.14	-16.3603	15.4615	0.75359	0.0:0.0:0.0:1.0	.	639	O60306	AQR_HUMAN	P	639	ENSP00000156471:T639P	ENSP00000156471:T639P	T	-	1	0	AQR	32983915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.608000	0.82898	2.117000	0.64856	0.533000	0.62120	ACC		0.348	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		G	35196623	T	G	35196623	3	3	30	1	0	0	0	0	1	0	0	0	835	1667	58	5	2610	5	AQR	15	35196623	Missense_Mutation	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10		35196623	67334769	84	2191											
RTF1	23168	hgsc.bcm.edu	37	15	41709461	41709461	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr15:41709461G>C	ENST00000389629.4	+	1	160	c.148G>C	c.(148-150)Gtg>Ctg	p.V50L	RTF1_ENST00000462276.1_3'UTR	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	50					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGGCCGCGTCGTGATCGACTC	0.721																																																0													18	22	21					15																	41709461		692	1591	2283	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.148G>C	chr15.hg19:g.41709461G>C	ENSP00000374280:p.Val50Leu		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	hg19	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537417	0.45176	.	.	ENSG00000137815	ENST00000389629	.	.	.	4.06	4.06	0.47325	.	0.093110	0.41500	U	0.000876	T	0.39462	0.1079	N	0.16790	0.44	0.37411	D	0.913231	B	0.06786	0.001	B	0.04013	0.001	T	0.36286	-0.9754	9	0.26408	T	0.33	-1.56	12.7087	0.57078	0.0:0.2172:0.7828:0.0	.	50	Q92541	RTF1_HUMAN	L	50	.	ENSP00000374280:V50L	V	+	1	0	RTF1	39496753	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.349000	0.66010	2.252000	0.74401	0.462000	0.41574	GTG		0.721	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		C	41709461	G	C	41709461	3	2	30	1	0	0	0	0	1	0	0	0	13727	1145	40	4	150	4	RTF1	15	41709461	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	6512838	41709461	60821931	85	2192											
CA12	771	hgsc.bcm.edu	37	15	63632589	63632589	+	Silent	SNP	G	G	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr15:63632589G>A	ENST00000178638.3	-	7	1085	c.645C>T	c.(643-645)acC>acT	p.T215T	CA12_ENST00000344366.3_Silent_p.T215T|CA12_ENST00000422263.2_Silent_p.T155T	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	215					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	AATATTCAGCGGTCCTCTCCG	0.567																																																0													90	79	83					15																	63632589		2203	4300	6503	SO:0001819	synonymous_variant	771			AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"Carbonic anhydrases"	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.645C>T	chr15.hg19:g.63632589G>A			B2RE24|Q53YE5|Q9BWG2	Silent	SNP	ENST00000178638.3	hg19	CCDS10185.1																																																																																				0.567	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		A	63632589	G	A	63632589	2	1	30	1	0	0	0	0	0	0	0	1	2515	1103	39	1		1	CA12	15	63632589	Silent	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	21923128	63632589	38898803	86	2193											
SLC24A1	9187	hgsc.bcm.edu	37	15	65943145	65943145	+	Silent	SNP	G	G	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr15:65943145G>A	ENST00000261892.6	+	7	2945	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	SLC24A1_ENST00000339868.6_Silent_p.E868E|SLC24A1_ENST00000544319.2_Silent_p.E772E|SLC24A1_ENST00000537259.1_Silent_p.E868E|SLC24A1_ENST00000399033.4_Silent_p.E886E|SLC24A1_ENST00000546330.1_Silent_p.E868E|SLC24A1_ENST00000449142.2_3'UTR	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	886	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						aggaggaggaggaagaggagg	0.567																																																0													44	49	48					15																	65943145		2194	4289	6483	SO:0001819	synonymous_variant	9187			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2658G>A	chr15.hg19:g.65943145G>A			O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	hg19	CCDS45284.1																																																																																				0.567	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		A	65943145	G	A	65943145	2	1	30	1	0	0	0	0	0	0	0	1	14471	991	35	2		2	SLC24A1	15	65943145	Silent	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	2310556	65943145	36588247	87	2194											
PPCDC	60490	hgsc.bcm.edu	37	15	75341008	75341009	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr15:75341008_75341009delTT	ENST00000342932.3	+	5	619_620	c.475_476delTT	c.(475-477)tttfs	p.F159fs	PPCDC_ENST00000563393.1_Frame_Shift_Del_p.F36fs|PPCDC_ENST00000568649.1_Frame_Shift_Del_p.F116fs|PPCDC_ENST00000564923.1_Frame_Shift_Del_p.F84fs|PPCDC_ENST00000567336.1_Frame_Shift_Del_p.F127fs	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	159					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	phosphopantothenoylcysteine decarboxylase activity (GO:0004633)			breast(1)|cervix(1)	2						GCTCAAGGCCTTTGGCTATGTC	0.619																																																0																																										SO:0001589	frameshift_variant	60490			AK027491	CCDS10275.1, CCDS73761.1, CCDS73759.1, CCDS73760.1	15q24.2	2005-08-16			ENSG00000138621	ENSG00000138621	4.1.1.36		28107	protein-coding gene	gene with protein product		609854				12975309, 11923312	Standard	XM_005254579		Approved	MDS018, FLJ14585	uc002azo.3	Q96CD2	OTTHUMG00000142824	ENST00000342932.3:c.475_476delTT	chr15.hg19:g.75341008_75341009delTT	ENSP00000343190:p.Phe159fs		Q96SX0|Q9HC17	Frame_Shift_Del	DEL	ENST00000342932.3	hg19	CCDS10275.1																																																																																				0.619	PPCDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286416.1	NM_021823		-	75341009	TT	-	75341008	7	5	30	1	0	1	0	1	0	0	0	0	12306	1609	56	0	489	0	PPCDC	15	75341008	Frame_Shift_Del	DEL	TT	TCGA-5P-A9JY-01A-11D-A42J-10	9397863	75341008	27190384	88	2195											
GNG13	51764	hgsc.bcm.edu	37	16	849062	849062	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr16:849062C>T	ENST00000248150.4	-	2	117	c.16G>A	c.(16-18)Gtg>Atg	p.V6M		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	6					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|sensory perception of taste (GO:0050909)|small molecule metabolic process (GO:0044281)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			ovary(1)	1		Hepatocellular(780;0.00335)				ATCTGTGGCACGTCCCACTCC	0.647																																																0													111	88	96					16																	849062		2198	4298	6496	SO:0001583	missense	51764			AB030207	CCDS10427.1	16p13.3	2008-08-01			ENSG00000127588	ENSG00000127588			14131	protein-coding gene	gene with protein product	"G gamma subunit, clone:h2-35"	607298				10570481	Standard	NM_016541		Approved	h2-35, G(gamma)13	uc002ckh.4	Q9P2W3	OTTHUMG00000047839	ENST00000248150.4:c.16G>A	chr16.hg19:g.849062C>T	ENSP00000248150:p.Val6Met		B2R5C8|Q52LX0|Q9UJJ3	Missense_Mutation	SNP	ENST00000248150.4	hg19	CCDS10427.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857389	0.32791	.	.	ENSG00000127588	ENST00000248150	T	0.24723	1.84	5.57	3.63	0.41609	G-protein gamma domain (4);	0.498697	0.22298	N	0.061909	T	0.14570	0.0352	.	.	.	0.23632	N	0.997248	P	0.43412	0.806	B	0.32090	0.14	T	0.17471	-1.0368	9	0.56958	D	0.05	-22.0611	7.2617	0.26207	0.0:0.701:0.1418:0.1572	.	6	Q9P2W3	GBG13_HUMAN	M	6	ENSP00000248150:V6M	ENSP00000248150:V6M	V	-	1	0	GNG13	789063	0.135000	0.22499	0.674000	0.29902	0.804000	0.45430	1.921000	0.40035	1.369000	0.46134	-0.221000	0.12465	GTG		0.647	GNG13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109062.3	NM_016541		T	849062	C	T	849062	3	4	30	1	0	0	0	0	1	0	0	0	6528	536	19	1	195	1	GNG13	16	849062	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10		849062	89505691	89	2196											
NLRC3	197358	hgsc.bcm.edu	37	16	3594306	3594306	+	RNA	SNP	T	T	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr16:3594306T>C	ENST00000301749.7	-	0	3200				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|LA16c-390H2.4_ENST00000573820.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCTCCGTCATCCCCGATGGC	0.592																																																0													71	76	74					16																	3594306		2092	4224	6316			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		chr16.hg19:g.3594306T>C			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	hg19		.	.	.	.	.	.	.	.	.	.	T	16.86	3.238733	0.58995	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.70516	-0.49;-0.49;-0.49	5.28	5.28	0.74379	.	0.062992	0.64402	D	0.000007	T	0.81098	0.4752	M	0.82323	2.585	0.27170	N	0.960946	D	0.56521	0.976	P	0.57152	0.814	T	0.77216	-0.2669	10	0.72032	D	0.01	.	11.5799	0.50885	0.0:0.0:0.0:1.0	.	978	C9JLH9	.	G	932;903;978	ENSP00000301749:D932G;ENSP00000352039:D903G;ENSP00000414415:D978G	ENSP00000301749:D932G	D	-	2	0	NLRC3	3534307	1.000000	0.71417	0.993000	0.49108	0.342000	0.28953	5.519000	0.67074	2.235000	0.73313	0.524000	0.50904	GAT		0.592	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		C	3594306	T	C	3594306	1	2	30	0	1	0	0	0	0	0	0	0	10470	1435	50	3		3	NLRC3	16	3594306	RNA	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10	2745244	3594306	86760447	90	2197											
UBN1	29855	hgsc.bcm.edu	37	16	4927063	4927068	+	In_Frame_Del	DEL	CATCGT	CATCGT	-	rs141880836|rs191007074		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	CATCGT	CATCGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr16:4927063_4927068delCATCGT	ENST00000396658.4	+	15	3919_3924	c.3216_3221delCATCGT	c.(3214-3222)gccatcgtc>gcc	p.IV1073del	UBN1_ENST00000545171.1_In_Frame_Del_p.IV1073del|UBN1_ENST00000590769.1_In_Frame_Del_p.IV1073del|UBN1_ENST00000262376.6_In_Frame_Del_p.IV1073del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1073					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCAAGGATGCCATCGTCACAGGCCCT	0.578																																																0																																										SO:0001651	inframe_deletion	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.3216_3221delCATCGT	chr16.hg19:g.4927063_4927068delCATCGT	ENSP00000379894:p.Ile1073_Val1074del		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	hg19	CCDS10525.1																																																																																				0.578	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		-	4927068	CATCGT	-	4927063	7	5	30	1	0	1	0	1	0	0	0	0	16897	581	21	0	3274	0	UBN1	16	4927063	In_Frame_Del	DEL	CATCGT	TCGA-5P-A9JY-01A-11D-A42J-10	1332757	4927063	85427690	91	2198											
C16orf72	29035	hgsc.bcm.edu	37	16	9196862	9196862	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr16:9196862G>A	ENST00000327827.7	+	3	726	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	RP11-473I1.5_ENST00000565648.1_RNA|RP11-473I1.9_ENST00000574285.1_RNA	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	110										endometrium(4)|large_intestine(2)|lung(2)	8						ACCCATCAACGAAGTTTTGAT	0.373																																																0													91	91	91					16																	9196862		2197	4300	6497	SO:0001583	missense	29035			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.329G>A	chr16.hg19:g.9196862G>A	ENSP00000331720:p.Arg110Gln			Missense_Mutation	SNP	ENST00000327827.7	hg19	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171478	0.94807	.	.	ENSG00000182831	ENST00000327827	T	0.50277	0.75	5.98	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.78801	2.425	0.58432	D	0.999999	D	0.76494	0.999	P	0.57425	0.82	T	0.71852	-0.4467	10	0.62326	D	0.03	-1.7932	17.2125	0.86935	0.0:0.1261:0.8739:0.0	.	110	Q14CZ0	CP072_HUMAN	Q	110	ENSP00000331720:R110Q	ENSP00000331720:R110Q	R	+	2	0	C16orf72	9104363	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.751000	0.98889	1.514000	0.48869	0.591000	0.81541	CGA		0.373	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		A	9196862	G	A	9196862	3	1	30	1	0	0	0	0	1	0	0	0	1833	1058	37	1	339	1	C16orf72	16	9196862	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	4269799	9196862	81157891	92	2199											
SNX29	92017	hgsc.bcm.edu	37	16	12571579	12571579	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr16:12571579T>A	ENST00000566228.1	+	19	2110	c.2041T>A	c.(2041-2043)Tac>Aac	p.Y681N	SNX29_ENST00000323433.4_Missense_Mutation_p.Y296N|SNX29_ENST00000306030.3_Missense_Mutation_p.Y296N	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	681	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TTGACAGGTCTACATCCGGAT	0.413																																																0													78	72	74					16																	12571579		1851	4094	5945	SO:0001583	missense	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2041T>A	chr16.hg19:g.12571579T>A	ENSP00000456480:p.Tyr681Asn		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	hg19	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	T	17.14	3.312908	0.60414	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	T;T	0.38240	1.15;1.15	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	L	0.37850	1.14	0.38631	D	0.951388	.	.	.	.	.	.	T	0.37079	-0.9721	8	0.45353	T	0.12	-15.4993	13.9674	0.64218	0.0:0.0:0.0:1.0	.	.	.	.	N	296	ENSP00000306940:Y296N;ENSP00000322226:Y296N	ENSP00000306940:Y296N	Y	+	1	0	SNX29	12479080	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	7.508000	0.81686	2.180000	0.69256	0.533000	0.62120	TAC		0.413	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			A	12571579	T	A	12571579	3	1	30	1	0	0	0	0	1	0	0	0	14904	1522	53	5	928	5	SNX29	16	12571579	Missense_Mutation	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10	3374717	12571579	77783174	93	2200											
APOB48R	55911	hgsc.bcm.edu	37	16	28507402	28507402	+	Missense_Mutation	SNP	C	C	T	rs148114931|rs62034314		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr16:28507402C>T	ENST00000431282.1	+	2	1050	c.1040C>T	c.(1039-1041)aCa>aTa	p.T347I	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.T347I|APOBR_ENST00000564831.1_Missense_Mutation_p.T347I|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	347	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GAGGCTGGGACAGCCTCAGGA	0.711																																																0													9	11	10					16																	28507402		1844	3986	5830	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1040C>T	chr16.hg19:g.28507402C>T	ENSP00000416094:p.Thr347Ile		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	hg19		.	.	.	.	.	.	.	.	.	.	c	13.05	2.120378	0.37436	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.60424	0.19;0.19	3.61	-7.21	0.01490	.	.	.	.	.	T	0.34513	0.0900	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.35724	-0.9777	7	0.38643	T	0.18	.	3.7838	0.08692	0.2212:0.2578:0.4267:0.0943	rs62034314	.	.	.	I	347	ENSP00000327669:T347I;ENSP00000416094:T347I	ENSP00000327669:T347I	T	+	2	0	APOBR	28414903	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	-0.337000	0.07852	-0.824000	0.04295	0.455000	0.32223	ACA		0.711	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		T	28507402	C	T	28507402	3	4	30	1	0	0	0	0	1	0	0	0	786	478	17	2	1046	2	APOB48R	16	28507402	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	15935823	28507402	61847351	94	2201											
CPNE2	221184	hgsc.bcm.edu	37	16	57147302	57147317	+	Frame_Shift_Del	DEL	CTCTTTGACCAGGACA	CTCTTTGACCAGGACA	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	CTCTTTGACCAGGACA	CTCTTTGACCAGGACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr16:57147302_57147317delCTCTTTGACCAGGACA	ENST00000535318.2	+	4	644_659	c.283_298delCTCTTTGACCAGGACA	c.(283-300)ctctttgaccaggacaagfs	p.LFDQDK95fs	CPNE2_ENST00000537605.1_5'UTR|CPNE2_ENST00000565874.1_Frame_Shift_Del_p.LFDQDK95fs|CPNE2_ENST00000290776.8_Frame_Shift_Del_p.LFDQDK95fs			Q96FN4	CPNE2_HUMAN	copine II	95	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CAAGTTCGCGCTCTTTGACCAGGACAAGTCCAGTAT	0.593																																																0																																										SO:0001589	frameshift_variant	221184				CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.283_298delCTCTTTGACCAGGACA	chr16.hg19:g.57147302_57147317delCTCTTTGACCAGGACA	ENSP00000439018:p.Leu95fs		Q68D19|Q719H8|Q86XP9	Frame_Shift_Del	DEL	ENST00000535318.2	hg19	CCDS10774.1																																																																																				0.593	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		-	57147317	CTCTTTGACCAGGACA	-	57147302	7	5	30	1	0	1	0	1	0	0	0	0	3814	797	28	0	289	0	CPNE2	16	57147302	Frame_Shift_Del	DEL	CTCTTTGACCAGGACA	TCGA-5P-A9JY-01A-11D-A42J-10	28639900	57147302	33207451	95	2202											
SPAG7	9552	hgsc.bcm.edu	37	17	4871090	4871090	+	Silent	SNP	G	G	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr17:4871090G>A	ENST00000206020.3	-	1	77	c.10C>T	c.(10-12)Cta>Tta	p.L4L	RP5-1050D4.3_ENST00000576752.1_RNA|SPAG7_ENST00000575142.1_5'Flank|SPAG7_ENST00000573366.1_5'Flank|SPAG7_ENST00000571023.1_5'UTR	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	4						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GAGCCCAGTAGGTCCGCCATC	0.617																																																0													70	76	74					17																	4871090		1970	4148	6118	SO:0001819	synonymous_variant	9552			AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.10C>T	chr17.hg19:g.4871090G>A			Q96EU5	Silent	SNP	ENST00000206020.3	hg19	CCDS42240.1																																																																																				0.617	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		A	4871090	G	A	4871090	2	1	30	1	0	0	0	0	0	0	0	1	14989	991	35	2		2	SPAG7	17	4871090	Silent	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10		4871090	76324120	96	2203											
MYH10	4628	hgsc.bcm.edu	37	17	8404183	8404183	+	Silent	SNP	G	G	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr17:8404183G>T	ENST00000269243.4	-	27	3750	c.3612C>A	c.(3610-3612)gcC>gcA	p.A1204A	MYH10_ENST00000360416.3_Silent_p.A1235A|MYH10_ENST00000396239.1_Silent_p.A1225A|MYH10_ENST00000379980.4_Silent_p.A1220A	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1204					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCTCCTCCAGGGCTGTTGCGT	0.547																																																0													176	158	164					17																	8404183		2203	4300	6503	SO:0001819	synonymous_variant	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3612C>A	chr17.hg19:g.8404183G>T			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	hg19	CCDS11144.1																																																																																				0.547	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			T	8404183	G	T	8404183	2	4	30	1	0	0	0	0	0	0	0	1	10032	1219	43	4		4	MYH10	17	8404183	Silent	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	3533093	8404183	72791027	97	2204											
DNAH9	1770	hgsc.bcm.edu	37	17	11672607	11672607	+	Missense_Mutation	SNP	G	G	C	rs61744697	byFrequency	TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr17:11672607G>C	ENST00000262442.4	+	38	7581	c.7513G>C	c.(7513-7515)Gtg>Ctg	p.V2505L	DNAH9_ENST00000454412.2_Missense_Mutation_p.V2505L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2505	AAA 3. {ECO:0000250}.			V -> L (in Ref. 1; AAF69004). {ECO:0000305}.	cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTGAAAAACGTGCCATTCAA	0.627																																																0													61	53	56					17																	11672607		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7513G>C	chr17.hg19:g.11672607G>C	ENSP00000262442:p.Val2505Leu		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782584	0.90282	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.46063	0.88;0.88	5.41	4.42	0.53409	ATPase, AAA+ type, core (1);	0.072443	0.53938	D	0.000045	T	0.53449	0.1797	L	0.50847	1.595	0.80722	D	1	D	0.56521	0.976	P	0.60173	0.87	T	0.47289	-0.9129	10	0.37606	T	0.19	.	15.0436	0.71811	0.0722:0.0:0.9278:0.0	.	2505	Q9NYC9	DYH9_HUMAN	L	2505;2505;1087	ENSP00000262442:V2505L;ENSP00000414874:V2505L	ENSP00000262442:V2505L	V	+	1	0	DNAH9	11613332	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	6.624000	0.74243	2.696000	0.92011	0.655000	0.94253	GTG		0.627	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		C	11672607	G	C	11672607	3	2	30	1	0	0	0	0	1	0	0	0	4610	1145	40	4	7663	4	DNAH9	17	11672607	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	3268424	11672607	69522603	98	2205											
NF1	4763	hgsc.bcm.edu	37	17	29654742	29654742	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr17:29654742G>A	ENST00000358273.4	+	38	5877	c.5494G>A	c.(5494-5496)Gaa>Aaa	p.E1832K	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.E1811K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1832	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACCCGCTGGGAACTGTCACA	0.512			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											122	117	119					17																	29654742		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5494G>A	chr17.hg19:g.29654742G>A	ENSP00000351015:p.Glu1832Lys		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	hg19	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829086	0.90955	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.96427	-4.01;-4.01;-4.01	5.8	5.8	0.92144	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96371	0.8816	L	0.33137	0.985	0.80722	D	1	B;D;P	0.54964	0.001;0.969;0.939	B;D;P	0.64321	0.001;0.924;0.657	D	0.94673	0.7858	10	0.21014	T	0.42	.	19.049	0.93034	0.0:0.0:1.0:0.0	.	861;1811;1832	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	K	1832;1811;1477	ENSP00000351015:E1832K;ENSP00000348498:E1811K;ENSP00000389907:E1477K	ENSP00000348498:E1811K	E	+	1	0	NF1	26678868	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.434000	0.97515	2.733000	0.93635	0.650000	0.86243	GAA		0.512	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29654742	G	A	29654742	3	1	30	1	0	0	0	0	1	0	0	0	10358	1175	41	2	5705	2	NF1	17	29654742	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	17982135	29654742	51540468	99	2206											
PCGF2	7703	hgsc.bcm.edu	37	17	36891478	36891482	+	Stop_Codon_Del	DEL	AAGTT	AAGTT	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	AAGTT	AAGTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr17:36891478_36891482delAAGTT	ENST00000580830.1	-	0	1730_1734				PCGF2_ENST00000360797.2_Stop_Codon_Del|PCGF2_ENST00000579882.1_3'UTR|PCGF2_ENST00000578109.1_3'UTR|PCGF2_ENST00000581345.1_Stop_Codon_Del|PCGF2_ENST00000585100.1_3'UTR			P35227	PCGF2_HUMAN	polycomb group ring finger 2						anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CCCTGGCCTCAAGTTAAGGGGGGCA	0.595											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001567	stop_retained_variant	7703			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		Exception_encountered	chr17.hg19:g.36891478_36891482delAAGTT	Exception_encountered	866	A6NGD8	Frame_Shift_Del	DEL	ENST00000580830.1	hg19	CCDS32638.1																																																																																				0.595	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		-	36891482	AAGTT	-	36891478	7	5	30	1	0	1	0	1	0	0	0	0	11577	143	5	0	5	0	PCGF2	17	36891478	Stop_Codon_Del	DEL	AAGTT	TCGA-5P-A9JY-01A-11D-A42J-10	7236736	36891478	44303732	100	2207											
KRTAP4-3	85290	hgsc.bcm.edu	37	17	39324382	39324382	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr17:39324382A>T	ENST00000391356.2	-	1	42	c.43T>A	c.(43-45)Tgt>Agt	p.C15S		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	15					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CCTTGACCACAGCTCTGGTCA	0.627																																																0													30	32	31					17																	39324382		2201	4293	6494	SO:0001583	missense	85290			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.43T>A	chr17.hg19:g.39324382A>T	ENSP00000375151:p.Cys15Ser			Missense_Mutation	SNP	ENST00000391356.2	hg19	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	12.59	1.983700	0.35036	.	.	ENSG00000196156	ENST00000391356	T	0.00619	6.18	4.74	4.74	0.60224	.	.	.	.	.	T	0.03477	0.0100	M	0.81341	2.54	0.34605	D	0.716949	D	0.89917	1.0	D	0.83275	0.996	T	0.27365	-1.0076	9	0.62326	D	0.03	.	12.478	0.55825	1.0:0.0:0.0:0.0	.	15	Q9BYR4	KRA43_HUMAN	S	15	ENSP00000375151:C15S	ENSP00000375151:C15S	C	-	1	0	KRTAP4-3	36577908	0.986000	0.35501	1.000000	0.80357	0.191000	0.23601	0.183000	0.16919	1.867000	0.54127	0.533000	0.62120	TGT		0.627	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			T	39324382	A	T	39324382	3	4	30	1	0	0	0	0	1	0	0	0	8554	188	7	5	548	5	KRTAP4-3	17	39324382	Missense_Mutation	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10	2432904	39324382	41870828	101	2208											
ATP6V0A1	535	hgsc.bcm.edu	37	17	40629677	40629677	+	Splice_Site	SNP	G	G	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr17:40629677G>T	ENST00000343619.4	+	6	546		c.e6-1		ATP6V0A1_ENST00000393829.2_Splice_Site|ATP6V0A1_ENST00000537728.1_Splice_Site|ATP6V0A1_ENST00000585525.1_Splice_Site|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Q148H|ATP6V0A1_ENST00000546249.1_Splice_Site|ATP6V0A1_ENST00000544137.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		ATCATCAGCAGATGGCGGATC	0.458																																																0													134	117	123					17																	40629677		2203	4300	6503	SO:0001630	splice_region_variant	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.424-1G>T	chr17.hg19:g.40629677G>T			B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	hg19	CCDS45684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.909417|4.909417	0.92107|0.92107	.|.	.|.	ENSG00000033627|ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000537728|ENST00000264649	.|D	.|0.86297	.|-2.1	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.382752	.|0.15363	.|U	.|0.266279	.|D	.|0.83972	.|0.5370	N|N	0.12502|0.12502	0.225|0.225	0.80722|0.80722	D|D	1|1	.|P	.|0.37176	.|0.586	.|P	.|0.45506	.|0.483	.|T	.|0.82705	.|-0.0325	.|10	.|0.39692	.|T	.|0.17	.|-2.6871	20.0498|20.0498	0.97621|0.97621	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|148	.|B7Z3B7	.|.	.|H	-1|148	.|ENSP00000264649:Q148H	.|ENSP00000264649:Q148H	.|Q	+|+	.|3	.|2	ATP6V0A1|ATP6V0A1	37883203|37883203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.820000|9.820000	0.99359|0.99359	2.753000|2.753000	0.94483|0.94483	0.557000|0.557000	0.71058|0.71058	.|CAG		0.458	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020	Intron	T	40629677	G	T	40629677	5	4	30	1	0	0	0	0	0	0	1	0	1168	956	33	4	462	4	ATP6V0A1	17	40629677	Splice_Site	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	1305295	40629677	40565533	102	2209											
RNF213	57674	hgsc.bcm.edu	37	17	78356798	78356798	+	Silent	SNP	A	A	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr17:78356798A>G	ENST00000582970.1	+	58	14141	c.13998A>G	c.(13996-13998)acA>acG	p.T4666T	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Silent_p.T2739T|RNF213_ENST00000508628.2_Silent_p.T4715T|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4666					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATTTTGACACAGAATTGTCAA	0.403																																																0													96	91	92					17																	78356798		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13998A>G	chr17.hg19:g.78356798A>G			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	hg19	CCDS58606.1																																																																																				0.403	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78356798	A	G	78356798	2	3	30	1	0	0	0	0	0	0	0	1	13483	175	7	3		3	RNF213	17	78356798	Silent	SNP	A	TCGA-5P-A9JY-01A-11D-A42J-10	37727121	78356798	2838412	103	2210											
SERPINB3	6317	hgsc.bcm.edu	37	18	61324647	61324647	+	Splice_Site	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr18:61324647C>T	ENST00000283752.5	-	6	613		c.e6-1		SERPINB3_ENST00000332821.8_Splice_Site|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3						negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTAATTTTTTCTGCAAGGGAA	0.368																																																0													79	82	81					18																	61324647		2203	4300	6503	SO:0001630	splice_region_variant	6317			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.470-1G>A	chr18.hg19:g.61324647C>T			A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Splice_Site	SNP	ENST00000283752.5	hg19	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549363	0.45383	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	.	.	.	2.74	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6068	0.62052	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERPINB3	59475627	1.000000	0.71417	0.463000	0.27130	0.269000	0.26545	6.973000	0.76116	1.841000	0.53522	0.455000	0.32223	.		0.368	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919	Intron	T	61324647	C	T	61324647	5	4	30	1	0	0	0	0	0	0	1	0	14108	927	32	2	715	2	SERPINB3	18	61324647	Splice_Site	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10		61324647	16752601	104	2211											
ARID3A	1820	hgsc.bcm.edu	37	19	932539	932539	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr19:932539C>T	ENST00000263620.3	+	3	817	c.490C>T	c.(490-492)Cct>Tct	p.P164S		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	164						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCCAGGCCCTGCCAGCTT	0.697																																					Pancreas(29;54 1022 32760 50921)											0													11	7	8					19																	932539		2071	4150	6221	SO:0001583	missense	1820			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.490C>T	chr19.hg19:g.932539C>T	ENSP00000263620:p.Pro164Ser		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	hg19	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.619291	0.00828	.	.	ENSG00000116017	ENST00000263620	T	0.36157	1.27	3.79	-3.67	0.04476	.	6.078050	0.01060	U	0.004623	T	0.12178	0.0296	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.18053	-1.0349	10	0.10377	T	0.69	-3.8161	5.4637	0.16632	0.0:0.1949:0.4491:0.356	.	164	Q99856	ARI3A_HUMAN	S	164	ENSP00000263620:P164S	ENSP00000263620:P164S	P	+	1	0	ARID3A	883539	0.005000	0.15991	0.000000	0.03702	0.384000	0.30261	0.223000	0.17719	-0.955000	0.03636	0.443000	0.29094	CCT		0.697	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		T	932539	C	T	932539	3	4	30	1	0	0	0	0	1	0	0	0	916	623	22	2	496	2	ARID3A	19	932539	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10		932539	58196444	105	2212											
TLE2	7089	hgsc.bcm.edu	37	19	3019295	3019295	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr19:3019295G>T	ENST00000262953.6	-	7	798	c.536C>A	c.(535-537)gCc>gAc	p.A179D	TLE2_ENST00000591529.1_Missense_Mutation_p.A193D|TLE2_ENST00000443826.3_Intron|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.A180D|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000455444.2_Intron|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000426948.2_Missense_Mutation_p.A193D	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	179	Gly/Pro-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCCCTCGGCCTCCACGCC	0.697																																																0													6	8	7					19																	3019295		2030	4111	6141	SO:0001583	missense	7089			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.536C>A	chr19.hg19:g.3019295G>T	ENSP00000262953:p.Ala179Asp		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	hg19	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	G	6.782	0.513219	0.12944	.	.	ENSG00000065717	ENST00000262953;ENST00000450017;ENST00000426948	T;T	0.55234	0.53;0.76	4.43	4.43	0.53597	.	0.274149	0.32884	N	0.005534	T	0.37705	0.1013	N	0.19112	0.55	0.09310	N	1	B;B	0.23058	0.076;0.079	B;B	0.23574	0.047;0.023	T	0.27400	-1.0075	10	0.37606	T	0.19	-19.2454	12.9084	0.58166	0.0:0.0:1.0:0.0	.	193;179	F8WCH2;Q04725	.;TLE2_HUMAN	D	179;173;193	ENSP00000262953:A179D;ENSP00000392869:A193D	ENSP00000262953:A179D	A	-	2	0	TLE2	2970295	0.045000	0.20229	0.939000	0.37840	0.212000	0.24457	1.274000	0.33132	2.177000	0.69029	0.491000	0.48974	GCC		0.697	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		T	3019295	G	T	3019295	3	4	30	1	0	0	0	0	1	0	0	0	15944	1203	42	4	1751	4	TLE2	19	3019295	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	2086756	3019295	56109688	106	2213											
MPND	84954	hgsc.bcm.edu	37	19	4357350	4357351	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr19:4357350_4357351delAG	ENST00000262966.8	+	9	1164_1165	c.1097_1098delAG	c.(1096-1098)cagfs	p.Q366fs	MPND_ENST00000359935.4_Frame_Shift_Del_p.Q316fs|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000599840.1_Frame_Shift_Del_p.Q366fs	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	366	MPN.						peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCGACGCACAGATGGACTACC	0.663																																																0																																										SO:0001589	frameshift_variant	84954				CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1097_1098delAG	chr19.hg19:g.4357350_4357351delAG	ENSP00000262966:p.Gln366fs		Q96SJ0|Q9Y2P1|Q9Y2P2	Frame_Shift_Del	DEL	ENST00000262966.8	hg19	CCDS42470.1																																																																																				0.663	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		-	4357351	AG	-	4357350	7	5	30	1	0	1	0	1	0	0	0	0	9733	188	7	0	1131	0	MPND	19	4357350	Frame_Shift_Del	DEL	AG	TCGA-5P-A9JY-01A-11D-A42J-10	1338055	4357350	54771633	107	2214	26	3									
MPND	84954	hgsc.bcm.edu	37	19	4357351	4357354	+	Frame_Shift_Del	DEL	GATG	GATG	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	GATG	GATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr19:4357351_4357354delGATG	ENST00000262966.8	+	9	1165_1168	c.1098_1101delGATG	c.(1096-1101)cagatgfs	p.QM366fs	MPND_ENST00000359935.4_Frame_Shift_Del_p.QM316fs|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000599840.1_Frame_Shift_Del_p.QM366fs	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	366	MPN.						peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGACGCACAGATGGACTACCAGC	0.672																																																0																																										SO:0001589	frameshift_variant	84954				CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1098_1101delGATG	chr19.hg19:g.4357351_4357354delGATG	ENSP00000262966:p.Gln366fs		Q96SJ0|Q9Y2P1|Q9Y2P2	Frame_Shift_Del	DEL	ENST00000262966.8	hg19	CCDS42470.1																																																																																				0.672	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		-	4357354	GATG	-	4357351	7	5	30	1	0	1	0	1	0	0	0	0	9733	933	33	0	1132	0	MPND	19	4357351	Frame_Shift_Del	DEL	GATG	TCGA-5P-A9JY-01A-11D-A42J-10	1	4357351	54771632	108	2215	26	3									
MPND	84954	hgsc.bcm.edu	37	19	4357354	4357354	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr19:4357354delG	ENST00000262966.8	+	9	1168	c.1101delG	c.(1099-1101)atgfs	p.M367fs	MPND_ENST00000359935.4_Frame_Shift_Del_p.M317fs|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000599840.1_Frame_Shift_Del_p.M367fs	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	367	MPN.						peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCACAGATGGACTACCAGC	0.677																																																0													21	23	23					19																	4357354		2017	4181	6198	SO:0001589	frameshift_variant	84954				CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1101delG	chr19.hg19:g.4357354delG	ENSP00000262966:p.Met367fs		Q96SJ0|Q9Y2P1|Q9Y2P2	Frame_Shift_Del	DEL	ENST00000262966.8	hg19	CCDS42470.1																																																																																				0.677	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		-	4357354	G	-	4357354	7	5	30	1	0	1	0	1	0	0	0	0	9733	1348	47	0	1135	0	MPND	19	4357354	Frame_Shift_Del	DEL	G	TCGA-5P-A9JY-01A-11D-A42J-10	3	4357354	54771629	109	2216	26	3									
DPP9	91039	hgsc.bcm.edu	37	19	4700253	4700253	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr19:4700253T>G	ENST00000598800.1	-	11	1467	c.962A>C	c.(961-963)gAg>gCg	p.E321A	DPP9_ENST00000262960.9_Missense_Mutation_p.E350A|DPP9_ENST00000597849.1_Missense_Mutation_p.E350A|DPP9_ENST00000594671.1_Missense_Mutation_p.E321A			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	321						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		AGTCTGGAACTCAGCCAGTTT	0.577																																																0													43	45	44					19																	4700253		1931	4135	6066	SO:0001583	missense	91039			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.962A>C	chr19.hg19:g.4700253T>G	ENSP00000469603:p.Glu321Ala		O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	hg19		.	.	.	.	.	.	.	.	.	.	T	14.87	2.665127	0.47677	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30182	1.54	4.5	4.5	0.54988	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.052580	0.64402	D	0.000001	T	0.49609	0.1567	L	0.58583	1.82	0.80722	D	1	P;D	0.89917	0.943;1.0	P;D	0.83275	0.854;0.996	T	0.44802	-0.9304	10	0.39692	T	0.17	-24.9386	13.1304	0.59377	0.0:0.0:0.0:1.0	.	321;350	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	A	429;291;350	ENSP00000262960:E350A	ENSP00000262960:E350A	E	-	2	0	DPP9	4651253	1.000000	0.71417	0.144000	0.22314	0.018000	0.09664	7.573000	0.82421	1.891000	0.54761	0.459000	0.35465	GAG		0.577	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			G	4700253	T	G	4700253	3	3	30	1	0	0	0	0	1	0	0	0	4735	1551	54	5	1681	5	DPP9	19	4700253	Missense_Mutation	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10	342899	4700253	54428730	110	2217											
MYO1F	4542	hgsc.bcm.edu	37	19	8615148	8615148	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr19:8615148G>C	ENST00000338257.8	-	10	1264	c.997C>G	c.(997-999)Cgc>Ggc	p.R333G	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	333	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GACTCGCTGCGCCCGCCCCAG	0.647																																																0													27	32	30					19																	8615148		2056	4215	6271	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.997C>G	chr19.hg19:g.8615148G>C	ENSP00000344871:p.Arg333Gly		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	hg19	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701939	0.48307	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.88431	-2.38	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.229852	0.37623	N	0.002016	D	0.89280	0.6670	L	0.48986	1.54	0.50632	D	0.999883	P;P	0.37594	0.601;0.601	B;P	0.44597	0.339;0.454	D	0.90617	0.4556	10	0.87932	D	0	.	16.9171	0.86154	0.0:0.0:1.0:0.0	.	333;333	B0I1T1;O00160	.;MYO1F_HUMAN	G	378;333	ENSP00000344871:R333G	ENSP00000304899:R378G	R	-	1	0	MYO1F	8521148	1.000000	0.71417	0.671000	0.29857	0.673000	0.39480	4.746000	0.62133	2.227000	0.72691	0.563000	0.77884	CGC		0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			C	8615148	G	C	8615148	3	2	30	1	0	0	0	0	1	0	0	0	10075	1087	38	4	2375	4	MYO1F	19	8615148	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	3914895	8615148	50513835	111	2218											
ANO8	57719	hgsc.bcm.edu	37	19	17440636	17440637	+	Frame_Shift_Del	DEL	TG	TG	-	rs377317921		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr19:17440636_17440637delTG	ENST00000159087.4	-	12	1491_1492	c.1333_1334delCA	c.(1333-1335)cagfs	p.Q445fs		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	445	Leu-rich.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GTTGACAAACTGGAACTGCAGG	0.604																																																0																																										SO:0001589	frameshift_variant	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.1333_1334delCA	chr19.hg19:g.17440636_17440637delTG	ENSP00000159087:p.Gln445fs		A6NIJ0	Frame_Shift_Del	DEL	ENST00000159087.4	hg19	CCDS32949.1																																																																																				0.604	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		-	17440637	TG	-	17440636	7	5	30	1	0	1	0	1	0	0	0	0	703	1580	55	0	2392	0	ANO8	19	17440636	Frame_Shift_Del	DEL	TG	TCGA-5P-A9JY-01A-11D-A42J-10	8825488	17440636	41688347	112	2219											
FCHO1	23149	hgsc.bcm.edu	37	19	17881335	17881335	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr19:17881335G>C	ENST00000596536.1	+	8	721	c.438G>C	c.(436-438)atG>atC	p.M146I	FCHO1_ENST00000595033.1_Missense_Mutation_p.M96I|FCHO1_ENST00000596951.1_Missense_Mutation_p.M146I|FCHO1_ENST00000597512.1_Missense_Mutation_p.M153I|FCHO1_ENST00000252771.7_Missense_Mutation_p.M146I|FCHO1_ENST00000600676.1_Missense_Mutation_p.M146I|FCHO1_ENST00000539407.1_Missense_Mutation_p.M146I|FCHO1_ENST00000389133.4_Missense_Mutation_p.M146I|FCHO1_ENST00000594202.1_Missense_Mutation_p.M146I	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	146	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ACCGTTGCATGGACCAGGAGC	0.632																																																0													49	48	48					19																	17881335		2203	4300	6503	SO:0001583	missense	23149			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.438G>C	chr19.hg19:g.17881335G>C	ENSP00000470731:p.Met146Ile		A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	hg19	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888439	0.33348	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.41400	1.0;1.0;1.0	4.56	3.53	0.40419	.	0.470084	0.24165	N	0.040958	T	0.28532	0.0706	L	0.29908	0.895	0.37133	D	0.901365	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.15052	0.005;0.002;0.012	T	0.15521	-1.0434	10	0.37606	T	0.19	-18.5905	7.9831	0.30196	0.1112:0.0:0.8888:0.0	.	96;146;146	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	I	146	ENSP00000252771:M146I;ENSP00000373785:M146I;ENSP00000437978:M146I	ENSP00000252771:M146I	M	+	3	0	FCHO1	17742335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.314000	0.59166	1.148000	0.42385	0.491000	0.48974	ATG		0.632	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		C	17881335	G	C	17881335	3	2	30	1	0	0	0	0	1	0	0	0	5789	1348	47	4	456	4	FCHO1	19	17881335	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	440699	17881335	41247648	113	2220											
ZNF146	7705	hgsc.bcm.edu	37	19	36727964	36727964	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr19:36727964G>T	ENST00000443387.2	+	4	1614	c.622G>T	c.(622-624)Ggt>Tgt	p.G208C	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.G208C	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	208					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					GATTCATTCAGGTGATAAACC	0.438																																																0													196	162	173					19																	36727964		2203	4300	6503	SO:0001583	missense	7705			X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"Zinc fingers, C2H2-type"	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.622G>T	chr19.hg19:g.36727964G>T	ENSP00000392095:p.Gly208Cys		Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	hg19	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400015	0.62177	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.42900	0.96;0.96	4.48	4.48	0.54585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41001	D	0.000980	T	0.71854	0.3389	M	0.91663	3.23	0.50039	D	0.999848	D	0.89917	1.0	D	0.97110	1.0	T	0.79027	-0.1971	10	0.87932	D	0	-7.7826	17.1134	0.86682	0.0:0.0:1.0:0.0	.	208	Q15072	OZF_HUMAN	C	208	ENSP00000392095:G208C;ENSP00000400391:G208C	ENSP00000392095:G208C	G	+	1	0	ZNF146	41419804	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	8.947000	0.93000	2.780000	0.95670	0.561000	0.74099	GGT		0.438	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		T	36727964	G	T	36727964	3	4	30	1	0	0	0	0	1	0	0	0	17738	1000	35	4	624	4	ZNF146	19	36727964	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10	18846629	36727964	22401019	114	2221											
BTBD3	22903	hgsc.bcm.edu	37	20	11898938	11898938	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr20:11898938G>T	ENST00000405977.1	+	2	640	c.15G>T	c.(13-15)aaG>aaT	p.K5N	BTBD3_ENST00000399006.2_Intron|BTBD3_ENST00000254977.3_Intron|BTBD3_ENST00000378226.2_Missense_Mutation_p.K5N|RP4-742J24.2_ENST00000439529.1_RNA	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	5					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TAGATGACAAGGAAAAGAACA	0.413																																																0													193	201	199					20																	11898938		2203	4300	6503	SO:0001583	missense	22903			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.15G>T	chr20.hg19:g.11898938G>T	ENSP00000384545:p.Lys5Asn		D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	hg19	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997866	0.35226	.	.	ENSG00000132640	ENST00000405977;ENST00000378226	T;T	0.80653	-1.4;-1.4	6.17	5.22	0.72569	.	0.052693	0.64402	D	0.000001	T	0.66137	0.2759	N	0.14661	0.345	0.48762	D	0.9997	B	0.02656	0.0	B	0.01281	0.0	T	0.63462	-0.6632	10	0.66056	D	0.02	.	10.1626	0.42860	0.1676:0.0:0.8324:0.0	.	5	Q9Y2F9	BTBD3_HUMAN	N	5	ENSP00000384545:K5N;ENSP00000367471:K5N	ENSP00000367471:K5N	K	+	3	2	BTBD3	11846938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.552000	0.53705	1.598000	0.50083	0.655000	0.94253	AAG		0.413	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			T	11898938	G	T	11898938	3	4	30	1	0	0	0	0	1	0	0	0	1546	991	35	4	17	4	BTBD3	20	11898938	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10		11898938	51126582	115	2222											
KCNQ2	3785	hgsc.bcm.edu	37	20	62038497	62038497	+	Missense_Mutation	SNP	C	C	T	rs543477138		TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr20:62038497C>T	ENST00000359125.2	-	17	2293	c.2119G>A	c.(2119-2121)Gcg>Acg	p.A707T	KCNQ2_ENST00000357249.2_Missense_Mutation_p.A689T|KCNQ2_ENST00000344462.4_Missense_Mutation_p.A676T|KCNQ2_ENST00000354587.3_Missense_Mutation_p.A715T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.A707T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A715T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A679T	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	707					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ACAgggggcgcggccgggggc	0.711																																																0													5	6	5					20																	62038497		2041	4078	6119	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2119G>A	chr20.hg19:g.62038497C>T	ENSP00000352035:p.Ala707Thr		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	hg19	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	3.761	-0.049564	0.07407	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99005	-5.17;-5.32;-5.32;-5.11;-5.32;-5.17;-5.17;-5.26;-5.11	4.5	0.844	0.18943	.	0.510450	0.17649	U	0.166750	D	0.92948	0.7756	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.0	D	0.87991	0.2749	10	0.15066	T	0.55	-18.663	8.3989	0.32574	0.0:0.5829:0.0:0.4171	.	679;689;676;707	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	T	689;707;677;715;707;676;679;703;715	ENSP00000349789:A689T;ENSP00000352035:A707T;ENSP00000359246:A677T;ENSP00000346601:A715T;ENSP00000352718:A707T;ENSP00000399612:A676T;ENSP00000353668:A679T;ENSP00000339611:A703T;ENSP00000359244:A715T	ENSP00000339611:A703T	A	-	1	0	KCNQ2	61508941	0.000000	0.05858	0.004000	0.12327	0.148000	0.21650	0.648000	0.24828	0.331000	0.23511	0.491000	0.48974	GCG		0.711	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		T	62038497	C	T	62038497	3	4	30	1	0	0	0	0	1	0	0	0	8085	768	27	1	503	1	KCNQ2	20	62038497	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	50139559	62038497	987023	116	2223											
KCNJ15	3772	hgsc.bcm.edu	37	21	39671467	39671468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr21:39671467_39671468insA	ENST00000328656.4	+	4	587_588	c.284_285insA	c.(283-288)ttagaafs	p.E96fs	KCNJ15_ENST00000398930.1_Frame_Shift_Ins_p.E96fs|KCNJ15_ENST00000398938.2_Frame_Shift_Ins_p.E96fs|KCNJ15_ENST00000398932.1_Frame_Shift_Ins_p.E96fs|KCNJ15_ENST00000398934.1_Frame_Shift_Ins_p.E96fs	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	96					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CATGGGGACTTAGAACCCGGTG	0.48																																																0																																										SO:0001589	frameshift_variant	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.285dupA	chr21.hg19:g.39671468_39671468dupA	ENSP00000331698:p.Glu96fs		D3DSH5|O00564|Q96L28|Q99446	Frame_Shift_Ins	INS	ENST00000328656.4	hg19	CCDS13656.1																																																																																				0.48	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		A	39671468	-	A	39671467	7	5	30	1	0	1	1	0	0	0	0	0	8051	1764	61	0	286	0	KCNJ15	21	39671467	Frame_Shift_Ins	INS	-	TCGA-5P-A9JY-01A-11D-A42J-10		39671467	8458428	117	2224											
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46021419	46021419	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr21:46021419C>T	ENST00000380102.2	+	1	923	c.898C>T	c.(898-900)Ccg>Tcg	p.P300S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	300	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						TAGCTGCCAGCCGGCTTGCTG	0.672																																																0													89	82	84					21																	46021419		2203	4296	6499	SO:0001583	missense	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.898C>T	chr21.hg19:g.46021419C>T	ENSP00000369445:p.Pro300Ser		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	hg19		.	.	.	.	.	.	.	.	.	.	c	8.469	0.857149	0.17106	.	.	ENSG00000205441	ENST00000380102	T	0.01887	4.58	3.25	2.34	0.29019	.	.	.	.	.	T	0.03136	0.0092	L	0.55481	1.735	0.21290	N	0.99973	B	0.25312	0.123	B	0.25759	0.063	T	0.41484	-0.9506	9	0.24483	T	0.36	.	10.1685	0.42895	0.0:0.777:0.223:0.0	.	295	P60409-2	.	S	300	ENSP00000369445:P300S	ENSP00000369445:P300S	P	+	1	0	KRTAP10-7	44845847	0.101000	0.21875	0.244000	0.24202	0.501000	0.33797	2.782000	0.47758	0.445000	0.26639	0.467000	0.42956	CCG		0.672	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		T	46021419	C	T	46021419	3	4	30	1	0	0	0	0	1	0	0	0	8516	739	26	2	889	2	KRTAP10-7	21	46021419	Missense_Mutation	SNP	C	TCGA-5P-A9JY-01A-11D-A42J-10	6349952	46021419	2108476	118	2225											
LZTR1	8216	hgsc.bcm.edu	37	22	21348913	21348913	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr22:21348913G>A	ENST00000215739.8	+	15	2041	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R542H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	561					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAGTTGTGCCGCCTGGAGCAG	0.632																																																0													63	49	54					22																	21348913		2202	4300	6502	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1682G>A	chr22.hg19:g.21348913G>A	ENSP00000215739:p.Arg561His		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	hg19	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	g	32	5.180499	0.94846	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67523	-0.27;-0.27	4.72	4.72	0.59763	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.81054	0.4743	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.989;0.996	D	0.83385	0.0014	10	0.72032	D	0.01	-35.0718	15.2289	0.73372	0.0:0.0:1.0:0.0	.	542;561;520	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	H	520;561;542	ENSP00000215739:R561H;ENSP00000374006:R542H	ENSP00000215739:R561H	R	+	2	0	LZTR1	19678913	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.743000	0.85020	2.444000	0.82710	0.457000	0.33378	CGC		0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		A	21348913	G	A	21348913	3	1	30	1	0	0	0	0	1	0	0	0	9139	1087	38	1	1740	1	LZTR1	22	21348913	Missense_Mutation	SNP	G	TCGA-5P-A9JY-01A-11D-A42J-10		21348913	29955653	119	2226											
KDELR3	11015	hgsc.bcm.edu	37	22	38877266	38877267	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr22:38877266_38877267AG>TA	ENST00000216014.4	+	4	573_574	c.401_402AG>TA	c.(400-402)cAG>cTA	p.Q134L	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.Q134L	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					ATCCTGCCCCAGCTCTTCATGA	0.505																																					Ovarian(11;103 529 24120 28493 32980)											0																																										SO:0001583	missense	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	Exception_encountered	chr22.hg19:g.38877266_38877267delinsTA	ENSP00000216014:p.Gln134Leu		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation|Silent	SNP	ENST00000216014.4	hg19	CCDS13972.1																																																																																				0.505	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			TA	38877267	AG	TA	38877266	3	4	30	1	0	0	0	0	1	0	0	0	8123	188	7	5	415	5	KDELR3	22	38877266	Missense_Mutation	DNP	AG	TCGA-5P-A9JY-01A-11D-A42J-10	17528353	38877266	12427300	120	2227											
DMC1	11144	hgsc.bcm.edu	37	22	38958351	38958351	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chr22:38958351delA	ENST00000216024.2	-	5	543	c.267delT	c.(265-267)tttfs	p.F89fs	DMC1_ENST00000428462.2_Frame_Shift_Del_p.F89fs	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	89					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CACTATACTCAAATGCAGTCA	0.328								Homologous recombination																																								0													114	112	113					22																	38958351		2203	4300	6503	SO:0001589	frameshift_variant	11144			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination", "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.267delT	chr22.hg19:g.38958351delA	ENSP00000216024:p.Phe89fs		A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Frame_Shift_Del	DEL	ENST00000216024.2	hg19	CCDS13973.1																																																																																				0.328	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		-	38958351	A	-	38958351	7	5	30	1	0	1	0	1	0	0	0	0	4581	127	5	0	795	0	DMC1	22	38958351	Frame_Shift_Del	DEL	A	TCGA-5P-A9JY-01A-11D-A42J-10	81085	38958351	12346215	121	2228											
MED14	9282	hgsc.bcm.edu	37	X	40526005	40526005	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JY-01A-11D-A42J-10	TCGA-5P-A9JY-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d3702abb-947d-4b7c-93d3-30102121f09b	f6bea4da-a48b-4082-b9aa-e19d3af1ac5c	g.chrX:40526005T>C	ENST00000324817.1	-	24	3350	c.3232A>G	c.(3232-3234)Ata>Gta	p.I1078V		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1078	Pro-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGGTCCTATTGAGATTCCA	0.478																																																0													48	41	43					X																	40526005		2203	4300	6503	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3232A>G	chrX.hg19:g.40526005T>C	ENSP00000323720:p.Ile1078Val		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	hg19	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.817087	0.32145	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.75	4.59	0.56863	.	0.041131	0.85682	D	0.000000	T	0.25531	0.0621	N	0.08118	0	0.34054	D	0.656508	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	9	0.17369	T	0.5	.	10.6482	0.45632	0.0:0.0753:0.0:0.9247	.	1078	O60244	MED14_HUMAN	V	1078	.	ENSP00000323720:I1078V	I	-	1	0	MED14	40410949	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.496000	0.81526	0.810000	0.34279	0.402000	0.26972	ATA		0.478	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		C	40526005	T	C	40526005	3	2	30	1	0	0	0	0	1	0	0	0	9434	1493	52	3	1164	3	MED14	23	40526005	Missense_Mutation	SNP	T	TCGA-5P-A9JY-01A-11D-A42J-10		40526005	114744555	122	2229											
TMEM52	339456	hgsc.bcm.edu	37	1	1850654	1850654	+	Silent	SNP	G	G	C			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr1:1850654G>C	ENST00000310991.3	-	1	58	c.51C>G	c.(49-51)ctC>ctG	p.L17L	TMEM52_ENST00000378602.3_5'Flank	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	17						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ggagcggcaggagcggcagca	0.771																																																0													1	2	1					1																	1850654		671	1684	2355	SO:0001819	synonymous_variant	339456			AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.51C>G	chr1.hg19:g.1850654G>C			Q4VXS6|Q6UX25	Silent	SNP	ENST00000310991.3	hg19	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	4.530	0.098402	0.08681	.	.	ENSG00000178821	ENST00000378598	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.39489	0.1080	.	.	.	0.22446	N	0.999091	.	.	.	.	.	.	T	0.39035	-0.9633	4	0.87932	D	0	.	.	.	.	.	.	.	.	C	15	.	ENSP00000367861:S15C	S	-	2	0	TMEM52	1840514	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	0.286000	0.18902	0.192000	0.20272	0.195000	0.17529	TCC		0.771	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		C	1850654	G	C	1850654	2	2	31	1	0	0	0	0	0	0	0	1	16183	1161	41	4		4	TMEM52	1	1850654	Silent	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10		1850654	247399967	1	2230											
PTCH2	8643	hgsc.bcm.edu	37	1	45295617	45295617	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr1:45295617C>T	ENST00000372192.3	-	7	1029	c.899G>A	c.(898-900)gGa>gAa	p.G300E	PTCH2_ENST00000447098.2_Missense_Mutation_p.G300E	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	300					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCCATGCCTCCCAGCAGCAA	0.587									Basal Cell Nevus syndrome																																							0													37	37	37					1																	45295617		2203	4300	6503	SO:0001583	missense	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.899G>A	chr1.hg19:g.45295617C>T	ENSP00000361266:p.Gly300Glu		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	hg19	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096188	0.94197	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.97731	-4.44;-4.51	4.78	4.78	0.61160	.	0.000000	0.51477	D	0.000084	D	0.98845	0.9610	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99701	1.1004	10	0.87932	D	0	-14.0582	16.7386	0.85454	0.0:1.0:0.0:0.0	.	300	Q9Y6C5	PTC2_HUMAN	E	300	ENSP00000389703:G300E;ENSP00000361266:G300E	ENSP00000361266:G300E	G	-	2	0	PTCH2	45068204	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.071000	0.76770	2.480000	0.83734	0.561000	0.74099	GGA		0.587	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		T	45295617	C	T	45295617	3	4	31	1	0	0	0	0	1	0	0	0	12736	855	30	2	2796	2	PTCH2	1	45295617	Missense_Mutation	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10	43444963	45295617	203955004	2	2231											
C8A	731	hgsc.bcm.edu	37	1	57372456	57372456	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr1:57372456G>A	ENST00000361249.3	+	8	1309	c.1213G>A	c.(1213-1215)Ggc>Agc	p.G405S		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	405	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATTTGGAGGTGGCAAAACTGG	0.403																																																0													108	108	108					1																	57372456		2203	4300	6503	SO:0001583	missense	731			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1213G>A	chr1.hg19:g.57372456G>A	ENSP00000354458:p.Gly405Ser		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	hg19	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398516	0.25205	.	.	ENSG00000157131	ENST00000361249	D	0.83250	-1.7	4.87	4.87	0.63330	Membrane attack complex component/perforin (MACPF) domain (3);	0.711573	0.14889	N	0.292511	T	0.78748	0.4332	L	0.58302	1.8	0.19575	N	0.999965	P	0.35527	0.507	B	0.37550	0.253	T	0.66991	-0.5783	10	0.06494	T	0.89	-25.6441	13.709	0.62656	0.0:0.0:1.0:0.0	.	405	P07357	CO8A_HUMAN	S	405	ENSP00000354458:G405S	ENSP00000354458:G405S	G	+	1	0	C8A	57145044	0.061000	0.20836	0.154000	0.22540	0.399000	0.30720	2.056000	0.41355	2.711000	0.92665	0.561000	0.74099	GGC		0.403	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		A	57372456	G	A	57372456	3	1	31	1	0	0	0	0	1	0	0	0	2418	1348	47	2	1243	2	C8A	1	57372456	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10	12076839	57372456	191878165	3	2232											
TCHH	7062	hgsc.bcm.edu	37	1	152084174	152084174	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr1:152084174G>C	ENST00000368804.1	-	2	1518	c.1519C>G	c.(1519-1521)Cta>Gta	p.L507V		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	507	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCGCCTTAGTTGCTGCTCG	0.652																																																0													63	70	67					1																	152084174		2062	4193	6255	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1519C>G	chr1.hg19:g.152084174G>C	ENSP00000357794:p.Leu507Val		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	hg19	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	7.583	0.669162	0.14776	.	.	ENSG00000159450	ENST00000368804	T	0.06528	3.29	1.93	0.956	0.19608	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.29440	0.102	T	0.48305	-0.9047	9	0.29301	T	0.29	.	7.6375	0.28274	0.0:0.0:0.7453:0.2547	.	507	Q07283	TRHY_HUMAN	V	507	ENSP00000357794:L507V	ENSP00000357794:L507V	L	-	1	2	TCHH	150350798	0.000000	0.05858	0.002000	0.10522	0.099000	0.18886	0.376000	0.20535	0.398000	0.25338	0.109000	0.15622	CTA		0.652	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		C	152084174	G	C	152084174	3	2	31	1	0	0	0	0	1	0	0	0	15705	1020	36	4	4316	4	TCHH	1	152084174	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10	94711718	152084174	97166447	4	2233			1	3		2	2	48	N	G_A	7.439135e-05
TCHH	7062	hgsc.bcm.edu	37	1	152084221	152084221	+	Missense_Mutation	SNP	A	A	C	rs202112040		TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr1:152084221A>C	ENST00000368804.1	-	2	1471	c.1472T>G	c.(1471-1473)cTc>cGc	p.L491R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	491	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTCCTCGAGCTTCAGCCA	0.672																																																0													63	70	68					1																	152084221		2106	4220	6326	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1472T>G	chr1.hg19:g.152084221A>C	ENSP00000357794:p.Leu491Arg		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	hg19	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	a	0.064	-1.216147	0.01542	.	.	ENSG00000159450	ENST00000368804	T	0.04603	3.59	2.11	-4.23	0.03789	.	.	.	.	.	T	0.00524	0.0017	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43491	-0.9388	9	0.12430	T	0.62	.	7.0185	0.24900	0.2982:0.5613:0.0:0.1406	.	491	Q07283	TRHY_HUMAN	R	491	ENSP00000357794:L491R	ENSP00000357794:L491R	L	-	2	0	TCHH	150350845	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-1.154000	0.03166	-2.764000	0.00368	-1.533000	0.00918	CTC		0.672	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		C	152084221	A	C	152084221	3	2	31	1	0	0	0	0	1	0	0	0	15705	304	11	5	4363	5	TCHH	1	152084221	Missense_Mutation	SNP	A	TCGA-5P-A9JZ-01A-11D-A42J-10	47	152084221	97166400	5	2234			1	3		2	2	48	N	G_A	7.439135e-05
SEMA4A	64218	hgsc.bcm.edu	37	1	156130786	156130786	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr1:156130786G>C	ENST00000368285.3	+	8	1043	c.776G>C	c.(775-777)aGg>aCg	p.R259T	SEMA4A_ENST00000355014.2_Missense_Mutation_p.R259T|SEMA4A_ENST00000368284.1_Missense_Mutation_p.R127T|SEMA4A_ENST00000368282.1_Missense_Mutation_p.R259T|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.R127T	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	259	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TTCTTTGAGAGGCTCCACACA	0.622																																																0													112	126	121					1																	156130786		2203	4300	6503	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.776G>C	chr1.hg19:g.156130786G>C	ENSP00000357268:p.Arg259Thr		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	hg19	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798929	0.50208	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	T;T;T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84;2.84;2.84	5.65	-0.876	0.10624	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.435314	0.24776	N	0.035696	T	0.02571	0.0078	L	0.39898	1.24	0.25989	N	0.982277	B;B	0.27264	0.041;0.173	B;B	0.29440	0.065;0.102	T	0.38929	-0.9638	10	0.48119	T	0.1	.	5.6603	0.17664	0.5503:0.1361:0.3136:0.0	.	127;259	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	T	259;160;259;259;127;221;221;127;226;259	ENSP00000401391:R259T;ENSP00000399230:R160T;ENSP00000347117:R259T;ENSP00000357268:R259T;ENSP00000357267:R127T;ENSP00000357269:R127T;ENSP00000392865:R226T;ENSP00000357265:R259T	ENSP00000347117:R259T	R	+	2	0	SEMA4A	154397410	0.916000	0.31088	0.889000	0.34880	0.729000	0.41735	1.624000	0.37018	-0.096000	0.12329	-0.391000	0.06502	AGG		0.622	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		C	156130786	G	C	156130786	3	2	31	1	0	0	0	0	1	0	0	0	14037	1000	35	4	802	4	SEMA4A	1	156130786	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10	4046565	156130786	93119835	6	2235											
CNTN2	6900	hgsc.bcm.edu	37	1	205033767	205033767	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr1:205033767G>C	ENST00000331830.4	+	12	1692	c.1408G>C	c.(1408-1410)Gat>Cat	p.D470H	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	470	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGTAACTCCAGATGGCACCTT	0.517																																					Melanoma(183;2548 2817 37099 41192)											0													128	109	115					1																	205033767		2203	4300	6503	SO:0001583	missense	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1408G>C	chr1.hg19:g.205033767G>C	ENSP00000330633:p.Asp470His		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	hg19	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641312	0.67244	.	.	ENSG00000184144	ENST00000331830	T	0.79554	-1.28	5.47	4.56	0.56223	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.248655	0.28047	N	0.016801	D	0.89822	0.6826	M	0.90595	3.13	0.46317	D	0.998986	D;D	0.76494	0.983;0.999	D;D	0.78314	0.965;0.991	D	0.90037	0.4139	10	0.72032	D	0.01	.	8.2648	0.31808	0.239:0.0:0.761:0.0	.	470;361	Q02246;Q68DA2	CNTN2_HUMAN;.	H	470	ENSP00000330633:D470H	ENSP00000330633:D470H	D	+	1	0	CNTN2	203300390	1.000000	0.71417	0.678000	0.29963	0.959000	0.62525	5.421000	0.66447	1.316000	0.45131	0.561000	0.74099	GAT		0.517	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		C	205033767	G	C	205033767	3	2	31	1	0	0	0	0	1	0	0	0	3643	942	33	4	1450	4	CNTN2	1	205033767	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10	48902981	205033767	44216854	7	2236											
CEP68	23177	hgsc.bcm.edu	37	2	65299543	65299543	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr2:65299543T>G	ENST00000377990.2	+	3	1516	c.1313T>G	c.(1312-1314)cTa>cGa	p.L438R	CEP68_ENST00000537589.1_Missense_Mutation_p.L50R|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.L438R|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.L438R	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	438					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCTCCCCAGCTAAGGACACGG	0.637																																																0													46	49	48					2																	65299543		2203	4300	6503	SO:0001583	missense	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.1313T>G	chr2.hg19:g.65299543T>G	ENSP00000367229:p.Leu438Arg		B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	hg19	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	T	16.41	3.115090	0.56505	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000537589;ENST00000260569;ENST00000545501	T;T;T;T	0.26067	2.39;2.38;1.76;2.39	5.78	-1.46	0.08800	.	1.328540	0.05425	N	0.544888	T	0.38878	0.1057	M	0.62723	1.935	0.09310	N	1	B;B;D;D;B	0.76494	0.102;0.102;0.98;0.999;0.102	B;B;P;D;B	0.67548	0.051;0.051;0.804;0.952;0.051	T	0.28964	-1.0027	10	0.45353	T	0.12	0.0022	0.6239	0.00783	0.3256:0.1216:0.2231:0.3297	.	426;438;438;438;438	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	R	438;438;50;438;426	ENSP00000367229:L438R;ENSP00000438306:L438R;ENSP00000443357:L50R;ENSP00000260569:L438R	ENSP00000260569:L438R	L	+	2	0	CEP68	65153047	0.000000	0.05858	0.002000	0.10522	0.086000	0.17979	0.206000	0.17375	-0.173000	0.10761	-0.468000	0.05107	CTA		0.637	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		G	65299543	T	G	65299543	3	3	31	1	0	0	0	0	1	0	0	0	3260	1522	53	5	1319	5	CEP68	2	65299543	Missense_Mutation	SNP	T	TCGA-5P-A9JZ-01A-11D-A42J-10		65299543	177899830	8	2237											
SPEG	10290	hgsc.bcm.edu	37	2	220342166	220342166	+	Splice_Site	SNP	A	A	G			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr2:220342166A>G	ENST00000312358.7	+	20	4860	c.4728A>G	c.(4726-4728)tcA>tcG	p.S1576S	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1576					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGTGCATTCAGGTAGGCAGG	0.622																																																0													32	37	35					2																	220342166		2094	4215	6309	SO:0001630	splice_region_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4729+1A>G	chr2.hg19:g.220342166A>G			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	hg19	CCDS42824.1																																																																																				0.622	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	Silent	G	220342166	A	G	220342166	5	3	31	1	0	0	0	0	0	0	1	0	15041	202	7	3	4818	3	SPEG	2	220342166	Splice_Site	SNP	A	TCGA-5P-A9JZ-01A-11D-A42J-10	155042623	220342166	22857207	9	2238											
C4orf23	152992	hgsc.bcm.edu	37	4	8470057	8470057	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr4:8470057G>T	ENST00000389737.4	+	9	1911	c.1911G>T	c.(1909-1911)aaG>aaT	p.K637N	TRMT44_ENST00000513449.2_Missense_Mutation_p.K396N	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	637					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										GGAGTTTGAAGACCTGGAATG	0.473																																																0													60	69	66					4																	8470057		2203	4300	6503	SO:0001583	missense	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1911G>T	chr4.hg19:g.8470057G>T	ENSP00000374387:p.Lys637Asn		Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	hg19	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325276	0.24080	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.18657	2.21;2.2	4.05	3.2	0.36748	.	1.211260	0.05647	N	0.584554	T	0.19604	0.0471	L	0.45137	1.4	0.09310	N	1	B;B	0.18461	0.026;0.028	B;B	0.24701	0.028;0.055	T	0.21177	-1.0253	10	0.40728	T	0.16	-4.6458	4.3664	0.11227	0.093:0.1435:0.5957:0.1679	.	637;396	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	N	396;637;245	ENSP00000424643:K396N;ENSP00000374387:K637N	ENSP00000285635:K245N	K	+	3	2	METTL19	8520957	0.088000	0.21588	0.029000	0.17559	0.088000	0.18126	0.592000	0.23984	2.274000	0.75844	0.462000	0.41574	AAG		0.473	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		T	8470057	G	T	8470057	3	4	31	1	0	0	0	0	1	0	0	0	2258	933	33	4	1945	4	C4orf23	4	8470057	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10		8470057	182684219	10	2239											
CC2D2A	57545	hgsc.bcm.edu	37	4	15539635	15539635	+	Silent	SNP	T	T	C			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr4:15539635T>C	ENST00000503292.1	+	17	2058	c.1878T>C	c.(1876-1878)gaT>gaC	p.D626D	CC2D2A_ENST00000424120.1_Silent_p.D626D|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Silent_p.D626D|CC2D2A_ENST00000389652.5_Silent_p.D577D	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	626					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGCCCACTGATCGGGCAGTGA	0.607																																																0													44	53	50					4																	15539635		2098	4229	6327	SO:0001819	synonymous_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1878T>C	chr4.hg19:g.15539635T>C			A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	hg19	CCDS47026.1																																																																																				0.607	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		C	15539635	T	C	15539635	2	2	31	1	0	0	0	0	0	0	0	1	2730	1432	50	3		3	CC2D2A	4	15539635	Silent	SNP	T	TCGA-5P-A9JZ-01A-11D-A42J-10	7069578	15539635	175614641	11	2240											
DNAJC21	134218	hgsc.bcm.edu	37	5	34945005	34945005	+	Silent	SNP	G	G	A			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr5:34945005G>A	ENST00000342382.4	+	8	1244	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	DNAJC21_ENST00000303525.7_Silent_p.R339R|DNAJC21_ENST00000382021.2_Silent_p.R339R			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	339	Glu-rich.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AGAAGCATCGGGAAATGGTGG	0.418																																																0													142	143	143					5																	34945005		2203	4300	6503	SO:0001819	synonymous_variant	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1017G>A	chr5.hg19:g.34945005G>A			Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Silent	SNP	ENST00000342382.4	hg19	CCDS34144.1																																																																																				0.418	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		A	34945005	G	A	34945005	2	1	31	1	0	0	0	0	0	0	0	1	4642	1219	43	2		2	DNAJC21	5	34945005	Silent	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10		34945005	145970255	12	2241											
CAPN11	11131	hgsc.bcm.edu	37	6	44137019	44137019	+	Splice_Site	SNP	G	G	A			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr6:44137019G>A	ENST00000398776.1	+	3	128	c.90G>A	c.(88-90)gaG>gaA	p.E30E	CAPN11_ENST00000542245.1_Splice_Site_p.E30E	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	30					proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTAAGCAGAGCCCACTTTTA	0.483																																																0													24	24	24					6																	44137019		1861	4093	5954	SO:0001630	splice_region_variant	11131			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.89-1G>A	chr6.hg19:g.44137019G>A			B2RA64|Q5T3G1|Q8N4R5	Silent	SNP	ENST00000398776.1	hg19	CCDS47436.1																																																																																				0.483	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3		Silent	A	44137019	G	A	44137019	5	1	31	1	0	0	0	0	0	0	1	0	2626	985	34	2	100	2	CAPN11	6	44137019	Splice_Site	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10		44137019	126978048	13	2242											
SMAP1	60682	hgsc.bcm.edu	37	6	71567632	71567633	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr6:71567632_71567633delTA	ENST00000370455.3	+	10	1217_1218	c.969_970delTA	c.(967-972)tttatgfs	p.M324fs	SMAP1_ENST00000370452.3_Frame_Shift_Del_p.M297fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.M297fs|B3GAT2_ENST00000230053.6_3'UTR	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	324					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CAGGTGTATTTATGGGACCCAC	0.45																																																0																																										SO:0001589	frameshift_variant	60682			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"ADP-ribosylation factor GTPase activating proteins"	19651	protein-coding gene	gene with protein product		611372	"stromal membrane-associated protein 1", "stromal membrane-associated GTPase-activating protein 1"			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.969_970delTA	chr6.hg19:g.71567632_71567633delTA	ENSP00000359484:p.Met324fs		Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	ENST00000370455.3	hg19	CCDS43478.1																																																																																				0.45	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		-	71567633	TA	-	71567632	7	5	31	1	0	1	0	1	0	0	0	0	14772	1751	61	0	1007	0	SMAP1	6	71567632	Frame_Shift_Del	DEL	TA	TCGA-5P-A9JZ-01A-11D-A42J-10	27430613	71567632	99547435	14	2243											
EGFR	1956	hgsc.bcm.edu	37	7	55221781	55221781	+	Silent	SNP	C	C	T			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr7:55221781C>T	ENST00000275493.2	+	7	1002	c.825C>T	c.(823-825)taC>taT	p.Y275Y	EGFR_ENST00000454757.2_Silent_p.Y222Y|EGFR_ENST00000344576.2_Silent_p.Y275Y|EGFR_ENST00000420316.2_Silent_p.Y275Y|EGFR_ENST00000455089.1_Silent_p.Y230Y|EGFR_ENST00000342916.3_Silent_p.Y275Y|EGFR_ENST00000442591.1_Silent_p.Y275Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	275			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCACCACGTACCAGATGGATG	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													198	156	170					7																	55221781		2203	4300	6503	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.825C>T	chr7.hg19:g.55221781C>T			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	hg19	CCDS5514.1																																																																																				0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		T	55221781	C	T	55221781	2	4	31	1	0	0	0	0	0	0	0	1	4969	518	18	2		2	EGFR	7	55221781	Silent	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10		55221781	103916882	15	2244											
DLX6	1750	hgsc.bcm.edu	37	7	96635450	96635450	+	Missense_Mutation	SNP	A	A	C	rs563784519	byFrequency	TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr7:96635450A>C	ENST00000518156.2	+	1	591	c.161A>C	c.(160-162)cAg>cCg	p.Q54P	DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					ccgccgccgcagccgcACTCG	0.736													A|||	29	0.00579073	0.0015	0.0058	5008	,	,		5002	0.001		0.006	False		,,,				2504	0.0164															0													2	2	2					7																	96635450		849	2293	3142	SO:0001583	missense	1750				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.161A>C	chr7.hg19:g.96635450A>C	ENSP00000428480:p.Gln54Pro		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	ENST00000518156.2	hg19	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	a	0.105	-1.146361	0.01714	.	.	ENSG00000006377	ENST00000518156	T	0.20200	2.09	3.38	0.713	0.18173	.	.	.	.	.	T	0.24586	0.0596	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03673	-1.1014	6	0.34782	T	0.22	.	8.4116	0.32646	0.3776:0.6224:0.0:0.0	.	.	.	.	P	54	ENSP00000428480:Q54P	ENSP00000428480:Q54P	Q	+	2	0	DLX6	96473386	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	1.464000	0.35288	0.377000	0.24735	0.414000	0.27820	CAG		0.736	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		C	96635450	A	C	96635450	3	2	31	1	0	0	0	0	1	0	0	0	4577	188	7	5	163	5	DLX6	7	96635450	Missense_Mutation	SNP	A	TCGA-5P-A9JZ-01A-11D-A42J-10	41413669	96635450	62503213	16	2245											
CDHR3	222256	hgsc.bcm.edu	37	7	105624700	105624700	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr7:105624700G>A	ENST00000317716.9	+	4	558	c.478G>A	c.(478-480)Gat>Aat	p.D160N	CDHR3_ENST00000542731.1_Missense_Mutation_p.D160N|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.D72N|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000343407.5_5'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	160	Cadherin 2. {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(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TGAGGCCTTCGATCCAGAAGA	0.458																																																0													63	64	64					7																	105624700		1907	4124	6031	SO:0001583	missense	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.478G>A	chr7.hg19:g.105624700G>A	ENSP00000325954:p.Asp160Asn		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	hg19	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417404	0.62622	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.78003	-1.14;-1.14;-1.14	4.56	4.56	0.56223	Cadherin (4);Cadherin-like (1);	0.137563	0.47455	D	0.000228	D	0.89150	0.6633	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88819	0.3297	10	0.33940	T	0.23	-25.4541	12.9987	0.58662	0.0:0.0:1.0:0.0	.	147;160	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	N	160;160;72	ENSP00000439766:D160N;ENSP00000325954:D160N;ENSP00000417771:D72N	ENSP00000325954:D160N	D	+	1	0	CDHR3	105411936	1.000000	0.71417	0.963000	0.40424	0.334000	0.28698	4.753000	0.62183	2.522000	0.85027	0.655000	0.94253	GAT		0.458	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		A	105624700	G	A	105624700	3	1	31	1	0	0	0	0	1	0	0	0	3122	1058	37	1	492	1	CDHR3	7	105624700	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10	8989250	105624700	53513963	17	2246											
FAM71F1	84691	hgsc.bcm.edu	37	7	128363339	128363339	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr7:128363339delT	ENST00000315184.5	+	4	829	c.776delT	c.(775-777)attfs	p.I259fs	FAM71F1_ENST00000485070.1_Frame_Shift_Del_p.I160fs|FAM71F1_ENST00000469348.1_3'UTR	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	259										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGTCTCAGATTTTTGCCGAC	0.498																																																0													121	119	120					7																	128363339		2203	4300	6503	SO:0001589	frameshift_variant	84691			AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.776delT	chr7.hg19:g.128363339delT	ENSP00000326652:p.Ile259fs		Q8IY75|Q8NA48	Frame_Shift_Del	DEL	ENST00000315184.5	hg19	CCDS5804.1																																																																																				0.498	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		-	128363339	T	-	128363339	7	5	31	1	0	1	0	1	0	0	0	0	5614	1493	52	0	790	0	FAM71F1	7	128363339	Frame_Shift_Del	DEL	T	TCGA-5P-A9JZ-01A-11D-A42J-10	22738639	128363339	30775324	18	2247											
OR2A1	346528	hgsc.bcm.edu	37	7	144015742	144015744	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr7:144015742_144015744delCTT	ENST00000408951.1	+	1	525_527	c.525_527delCTT	c.(523-528)cacttc>cac	p.F177del	OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					AAATCAACCACTTCTTCTGTGAA	0.581																																																0																																										SO:0001651	inframe_deletion	346528				CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"GPCR / Class A : Olfactory receptors"	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.525_527delCTT	chr7.hg19:g.144015745_144015747delCTT	ENSP00000386175:p.Phe177del		Q6IF44|Q96R46	In_Frame_Del	DEL	ENST00000408951.1	hg19	CCDS43673.1																																																																																				0.581	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349985.1			-	144015744	CTT	-	144015742	7	5	31	1	0	1	0	1	0	0	0	0	10976	564	20	0	527	0	OR2A1	7	144015742	In_Frame_Del	DEL	CTT	TCGA-5P-A9JZ-01A-11D-A42J-10	15652403	144015742	15122921	19	2248											
C7orf33	202865	hgsc.bcm.edu	37	7	148311173	148311173	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr7:148311173T>C	ENST00000307003.2	+	2	605	c.244T>C	c.(244-246)Ttt>Ctt	p.F82L		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	82										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGGGATGGAATTTATTGCTCC	0.478																																																0													90	88	88					7																	148311173		2203	4300	6503	SO:0001583	missense	202865			BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.244T>C	chr7.hg19:g.148311173T>C	ENSP00000304071:p.Phe82Leu			Missense_Mutation	SNP	ENST00000307003.2	hg19	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	T	3.680	-0.065801	0.07273	.	.	ENSG00000170279	ENST00000307003	.	.	.	1.06	1.06	0.20224	.	.	.	.	.	T	0.20577	0.0495	N	0.19112	0.55	0.09310	N	1	B	0.23185	0.081	B	0.17433	0.018	T	0.21827	-1.0234	8	0.87932	D	0	.	4.3208	0.11016	0.0:0.0:0.0:1.0	.	82	Q8WU49	CG033_HUMAN	L	82	.	ENSP00000304071:F82L	F	+	1	0	C7orf33	147942106	0.002000	0.14202	0.002000	0.10522	0.003000	0.03518	0.586000	0.23894	0.718000	0.32166	0.368000	0.22195	TTT		0.478	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		C	148311173	T	C	148311173	3	2	31	1	0	0	0	0	1	0	0	0	2390	1493	52	3	250	3	C7orf33	7	148311173	Missense_Mutation	SNP	T	TCGA-5P-A9JZ-01A-11D-A42J-10	4295431	148311173	10827490	20	2249											
DNAJB6	10049	hgsc.bcm.edu	37	7	157160104	157160104	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr7:157160104C>A	ENST00000262177.4	+	5	478	c.273C>A	c.(271-273)ttC>ttA	p.F91L	DNAJB6_ENST00000429029.2_Missense_Mutation_p.F91L|DNAJB6_ENST00000452797.2_Missense_Mutation_p.F42L|DNAJB6_ENST00000443280.1_Missense_Mutation_p.F91L	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	91	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AATTTGGCTTCACATTCCGTA	0.388																																					Esophageal Squamous(46;195 967 1350 20350 43814)											0													160	149	153					7																	157160104		2203	4299	6502	SO:0001583	missense	10049			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"Heat shock proteins / DNAJ (HSP40)"	14888	protein-coding gene	gene with protein product		611332	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.273C>A	chr7.hg19:g.157160104C>A	ENSP00000262177:p.Phe91Leu		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	ENST00000262177.4	hg19	CCDS5946.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046573	0.55110	.	.	ENSG00000105993	ENST00000441561;ENST00000429029;ENST00000262177;ENST00000417758;ENST00000452797;ENST00000443280;ENST00000421417;ENST00000412557;ENST00000453383	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	4.58	0.533	0.17121	Heat shock protein DnaJ, N-terminal (1);	0.131004	0.32190	U	0.006450	D	0.83959	0.5367	M	0.71296	2.17	0.51767	D	0.999933	B;D;P;P;D	0.71674	0.427;0.998;0.589;0.942;0.996	B;D;B;P;D	0.80764	0.235;0.994;0.347;0.816;0.98	T	0.81400	-0.0950	10	0.66056	D	0.02	.	9.0446	0.36338	0.0:0.3955:0.0:0.6045	.	91;42;91;91;91	E9PH18;B4DN73;A8KAG0;O75190;O75190-2	.;.;.;DNJB6_HUMAN;.	L	91;91;91;91;42;91;91;91;91	ENSP00000410643:F91L;ENSP00000397556:F91L;ENSP00000262177:F91L;ENSP00000400665:F91L;ENSP00000402270:F42L;ENSP00000396267:F91L;ENSP00000403407:F91L;ENSP00000396240:F91L	ENSP00000262177:F91L	F	+	3	2	DNAJB6	156852865	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	1.038000	0.30254	-0.130000	0.11599	-0.137000	0.14449	TTC		0.388	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2			A	157160104	C	A	157160104	3	1	31	1	0	0	0	0	1	0	0	0	4626	825	29	4	287	4	DNAJB6	7	157160104	Missense_Mutation	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10	8848931	157160104	1978559	21	2250											
MTSS1	9788	hgsc.bcm.edu	37	8	125580765	125580765	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr8:125580765A>G	ENST00000518547.1	-	7	946	c.473T>C	c.(472-474)aTc>aCc	p.I158T	MTSS1_ENST00000378017.3_Missense_Mutation_p.I158T|MTSS1_ENST00000325064.5_Missense_Mutation_p.I162T|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000431961.2_5'UTR|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000524090.1_Missense_Mutation_p.I48T	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	158	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGAGGCTGGATATCACCTCT	0.493																																					Esophageal Squamous(160;622 1893 3862 8546 12509)											0													69	65	67					8																	125580765		2203	4300	6503	SO:0001583	missense	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.473T>C	chr8.hg19:g.125580765A>G	ENSP00000429064:p.Ile158Thr		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	hg19	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.12|17.12	3.306988|3.306988	0.60305|0.60305	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064;ENST00000524090|ENST00000522162	T;T;T;T|.	0.33216|.	1.51;1.5;1.51;1.42|.	5.45|5.45	5.45|5.45	0.79879|0.79879	IRSp53/MIM homology domain (IMD) (3);|.	0.055995|.	0.64402|.	D|.	0.000001|.	T|T	0.60130|0.60130	0.2245|0.2245	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	D;P;B;P|.	0.61697|.	0.99;0.523;0.021;0.731|.	P;B;B;P|.	0.60236|.	0.871;0.391;0.248;0.486|.	T|T	0.56691|0.56691	-0.7937|-0.7937	10|5	0.14252|.	T|.	0.57|.	-27.9499|-27.9499	15.806|15.806	0.78513|0.78513	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	48;158;158;158|.	E7EWW5;A5YM41;O43312;O43312-4|.	.;.;MTSS1_HUMAN;.|.	T|P	158;158;162;48|153	ENSP00000367256:I158T;ENSP00000429064:I158T;ENSP00000322804:I162T;ENSP00000428319:I48T|.	ENSP00000322804:I162T|.	I|S	-|-	2|1	0|0	MTSS1|MTSS1	125649946|125649946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	9.181000|9.181000	0.94874|0.94874	2.196000|2.196000	0.70406|0.70406	0.533000|0.533000	0.62120|0.62120	ATC|TCC		0.493	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		G	125580765	A	G	125580765	3	3	31	1	0	0	0	0	1	0	0	0	9964	333	12	3	1826	3	MTSS1	8	125580765	Missense_Mutation	SNP	A	TCGA-5P-A9JZ-01A-11D-A42J-10		125580765	20783257	22	2251											
MFSD3	113655	hgsc.bcm.edu	37	8	145736222	145736222	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr8:145736222T>A	ENST00000301327.4	+	4	1261	c.1001T>A	c.(1000-1002)cTg>cAg	p.L334Q	RECQL4_ENST00000532237.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	334	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTGGGAGGCCTGGTCACCACA	0.627																																																0													53	52	52					8																	145736222		2202	4297	6499	SO:0001583	missense	113655				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.1001T>A	chr8.hg19:g.145736222T>A	ENSP00000301327:p.Leu334Gln			Missense_Mutation	SNP	ENST00000301327.4	hg19	CCDS6431.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987542	0.74589	.	.	ENSG00000167700	ENST00000301327	T	0.59083	0.29	5.25	3.88	0.44766	Major facilitator superfamily domain, general substrate transporter (1);	0.328159	0.28549	N	0.014948	T	0.69142	0.3078	M	0.72894	2.215	0.32062	N	0.595635	D	0.56746	0.977	D	0.64321	0.924	T	0.73742	-0.3887	10	0.48119	T	0.1	.	9.3368	0.38056	0.0:0.1009:0.0:0.8991	.	334	Q96ES6	MFSD3_HUMAN	Q	334	ENSP00000301327:L334Q	ENSP00000301327:L334Q	L	+	2	0	MFSD3	145707030	0.856000	0.29760	1.000000	0.80357	0.936000	0.57629	1.128000	0.31369	1.986000	0.57962	0.379000	0.24179	CTG		0.627	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		A	145736222	T	A	145736222	3	1	31	1	0	0	0	0	1	0	0	0	9534	1580	55	5	1015	5	MFSD3	8	145736222	Missense_Mutation	SNP	T	TCGA-5P-A9JZ-01A-11D-A42J-10	20155457	145736222	627800	23	2252											
DPP7	29952	hgsc.bcm.edu	37	9	140006480	140006481	+	Splice_Site	DNP	GC	GC	TA			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr9:140006480_140006481GC>TA	ENST00000371579.2	-	10	1055_1056	c.1051_1052GC>TA	c.(1051-1053)GCc>TAc	p.A351Y		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	351						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CTCGGTGCAGGCCTGCAGGTGC	0.658																																																0																																										SO:0001630	splice_region_variant	29952			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"dipeptidylpeptidase 7"			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1051_1052delinsTA	chr9.hg19:g.140006480_140006481delinsTA			A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	hg19	CCDS7030.1																																																																																				0.658	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379	Missense_Mutation	TA	140006481	GC	TA	140006480	5	4	31	1	0	0	0	0	0	0	1	0	4733	1217	42	4	442	4	DPP7	9	140006480	Splice_Site	DNP	GC	TCGA-5P-A9JZ-01A-11D-A42J-10		140006480	1206951	24	2253											
ITGB1	3688	hgsc.bcm.edu	37	10	33199326	33199326	+	Silent	SNP	C	C	T			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr10:33199326C>T	ENST00000396033.2	-	14	2124	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	ITGB1_ENST00000374956.4_Silent_p.Q663Q|ITGB1_ENST00000423113.1_Silent_p.Q663Q|ITGB1_ENST00000302278.3_Silent_p.Q663Q	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	663					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)	AGGAACATTCCTGTGTGCATG	0.378																																																0													49	50	49					10																	33199326		2203	4297	6500	SO:0001819	synonymous_variant	3688			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.1989G>A	chr10.hg19:g.33199326C>T			A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	hg19	CCDS7174.1																																																																																				0.378	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		T	33199326	C	T	33199326	2	4	31	1	0	0	0	0	0	0	0	1	7892	680	24	2		2	ITGB1	10	33199326	Silent	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10		33199326	102335421	25	2254											
FAM175B	23172	hgsc.bcm.edu	37	10	126515171	126515171	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr10:126515171T>G	ENST00000298492.5	+	5	320	c.275T>G	c.(274-276)aTt>aGt	p.I92S		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	92	MPN-like.				cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						CAGAAAGTCATTGGGTGGTAC	0.453																																																0													108	103	105					10																	126515171		2203	4300	6503	SO:0001583	missense	23172			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"Abraxas brother"	611144	"KIAA0157"	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.275T>G	chr10.hg19:g.126515171T>G	ENSP00000298492:p.Ile92Ser		B4DKR2|Q96H11	Missense_Mutation	SNP	ENST00000298492.5	hg19	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	T	25.4	4.630040	0.87660	.	.	ENSG00000165660	ENST00000298492	T	0.44881	0.91	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69731	-0.5066	10	0.87932	D	0	-36.1308	16.1986	0.82053	0.0:0.0:0.0:1.0	.	92	Q15018	F175B_HUMAN	S	92	ENSP00000298492:I92S	ENSP00000298492:I92S	I	+	2	0	FAM175B	126505161	1.000000	0.71417	0.373000	0.26003	0.829000	0.46940	8.027000	0.88791	2.227000	0.72691	0.455000	0.32223	ATT		0.453	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182		G	126515171	T	G	126515171	3	3	31	1	0	0	0	0	1	0	0	0	5500	1493	52	5	293	5	FAM175B	10	126515171	Missense_Mutation	SNP	T	TCGA-5P-A9JZ-01A-11D-A42J-10	93315845	126515171	9019576	26	2255											
ATG2A	23130	hgsc.bcm.edu	37	11	64677319	64677320	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr11:64677319_64677320insAA	ENST00000377264.3	-	14	2052_2053	c.1940_1941insTT	c.(1939-1941)ttcfs	p.F647fs	ATG2A_ENST00000421419.2_Frame_Shift_Ins_p.F647fs	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	647					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGGCAATGGGGAAGCGCAGCCG	0.703																																																0																																										SO:0001589	frameshift_variant	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1939_1940dupTT	chr11.hg19:g.64677320_64677321dupAA	ENSP00000366475:p.Phe647fs		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Frame_Shift_Ins	INS	ENST00000377264.3	hg19	CCDS31602.1																																																																																				0.703	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		AA	64677320	-	AA	64677319	7	5	31	1	0	1	1	0	0	0	0	0	1093	1165	41	0	3987	0	ATG2A	11	64677319	Frame_Shift_Ins	INS	-	TCGA-5P-A9JZ-01A-11D-A42J-10		64677319	70329197	27	2256											
PCF11	51585	hgsc.bcm.edu	37	11	82877690	82877690	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr11:82877690A>G	ENST00000298281.4	+	5	2203	c.1751A>G	c.(1750-1752)aAt>aGt	p.N584S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	584					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAAGGAGAATGTAGAAAAC	0.393																																																0													66	66	66					11																	82877690		1824	4044	5868	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1751A>G	chr11.hg19:g.82877690A>G	ENSP00000298281:p.Asn584Ser		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172383	0.38315	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.50813	1.68;0.74;0.73	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000005	T	0.34483	0.0899	N	0.19112	0.55	0.29519	N	0.853609	P;P	0.43788	0.473;0.817	B;B	0.38500	0.091;0.275	T	0.25433	-1.0132	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	584;584	E9PQ01;O94913	.;PCF11_HUMAN	S	584	ENSP00000298281:N584S;ENSP00000434540:N584S;ENSP00000431567:N584S	.	N	+	2	0	PCF11	82555338	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	3.827000	0.55745	2.326000	0.78906	0.533000	0.62120	AAT		0.393	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82877690	A	G	82877690	3	3	31	1	0	0	0	0	1	0	0	0	11575	101	4	3	1769	3	PCF11	11	82877690	Missense_Mutation	SNP	A	TCGA-5P-A9JZ-01A-11D-A42J-10	18200371	82877690	52128826	28	2257											
SORL1	6653	hgsc.bcm.edu	37	11	121498410	121498410	+	Missense_Mutation	SNP	G	G	A	rs146742626		TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr11:121498410G>A	ENST00000260197.7	+	47	6640	c.6511G>A	c.(6511-6513)Gcc>Acc	p.A2171T	SORL1_ENST00000534286.1_Missense_Mutation_p.A1081T|SORL1_ENST00000525532.1_Missense_Mutation_p.A1115T|SORL1_ENST00000532694.1_Missense_Mutation_p.A1017T|SORL1_ENST00000527934.1_Missense_Mutation_p.A786T	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2171					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGCTTCACCGCCTTCGCCAA	0.607																																																0								G	THR/ALA	0,4404		0,0,2202	59	52	54		6511	6	0.2	11	dbSNP_134	54	1,8597	1.2+/-3.3	0,1,4298	no	missense	SORL1	NM_003105.5	58	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	2171/2215	121498410	1,13001	2202	4299	6501	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.6511G>A	chr11.hg19:g.121498410G>A	ENSP00000260197:p.Ala2171Thr		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	hg19	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610245	0.87258	0.0	1.16E-4	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.91464	-2.85;-2.59;-2.23;-2.26;-2.13	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	L	0.59436	1.845	0.58432	D	0.99999	D;D	0.62365	0.983;0.991	B;P	0.54629	0.397;0.757	D	0.91897	0.5528	10	0.44086	T	0.13	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	786;2171	E9PKB0;Q92673	.;SORL_HUMAN	T	2171;1115;1017;1081;786	ENSP00000260197:A2171T;ENSP00000434634:A1115T;ENSP00000432131:A1017T;ENSP00000436447:A1081T;ENSP00000435405:A786T	ENSP00000260197:A2171T	A	+	1	0	SORL1	121003620	1.000000	0.71417	0.204000	0.23530	0.947000	0.59692	5.412000	0.66392	2.826000	0.97356	0.655000	0.94253	GCC		0.607	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		A	121498410	G	A	121498410	3	1	31	1	0	0	0	0	1	0	0	0	14940	1087	38	1	6697	1	SORL1	11	121498410	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10	38620720	121498410	13508106	29	2258											
OR10G7	390265	hgsc.bcm.edu	37	11	123909026	123909026	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr11:123909026C>T	ENST00000330487.5	-	1	691	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTCTGAGGTGCGGATCCGCAG	0.537																																																0													138	119	126					11																	123909026		2201	4299	6500	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.683G>A	chr11.hg19:g.123909026C>T	ENSP00000329689:p.Arg228His		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	hg19	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	C	3.124	-0.179813	0.06380	.	.	ENSG00000182634	ENST00000330487	T	0.39229	1.09	3.38	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.566427	0.16064	N	0.231343	T	0.25568	0.0622	L	0.28556	0.865	0.20074	N	0.999935	B	0.09022	0.002	B	0.17979	0.02	T	0.20042	-1.0287	10	0.20046	T	0.44	.	5.6004	0.17351	0.0:0.5333:0.2729:0.1938	.	228	Q8NGN6	O10G7_HUMAN	H	228	ENSP00000329689:R228H	ENSP00000329689:R228H	R	-	2	0	OR10G7	123414236	0.000000	0.05858	0.974000	0.42286	0.400000	0.30750	-1.370000	0.02575	0.271000	0.22005	-0.232000	0.12228	CGC		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		T	123909026	C	T	123909026	3	4	31	1	0	0	0	0	1	0	0	0	10904	768	27	1	256	1	OR10G7	11	123909026	Missense_Mutation	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10	2410616	123909026	11097490	30	2259											
KRT1	3848	hgsc.bcm.edu	37	12	53069229	53069229	+	Silent	SNP	G	G	A	rs540699806|rs267607656	byFrequency	TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr12:53069229G>A	ENST00000252244.3	-	9	1741	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	561	Gly/Ser-rich.|Tail.		Missing (in allele 1B). {ECO:0000269|PubMed:1281859}.		complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tgccacctccggagccgtagc	0.692																																																0													4	4	4					12																	53069229		1797	3656	5453	SO:0001819	synonymous_variant	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1683C>T	chr12.hg19:g.53069229G>A			B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	hg19	CCDS8836.1																																																																																				0.692	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		A	53069229	G	A	53069229	2	1	31	1	0	0	0	0	0	0	0	1	8449	1103	39	1		1	KRT1	12	53069229	Silent	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10		53069229	80782666	31	2260											
KRT3	3850	hgsc.bcm.edu	37	12	53183951	53183951	+	Missense_Mutation	SNP	C	C	T	rs570613061|rs60125653	byFrequency	TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr12:53183951C>T	ENST00000417996.2	-	9	1836	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	KRT3_ENST00000309505.3_Missense_Mutation_p.G589S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	588	Gly-rich.|Tail.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCAAAgccgctgccaccg	0.697																																																0													14	31	25					12																	53183951		1574	3123	4697	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1762G>A	chr12.hg19:g.53183951C>T	ENSP00000413479:p.Gly588Ser		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	hg19	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307617	0.40795	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.91351	-2.83;-2.83	3.4	-1.34	0.09143	.	0.507655	0.14827	N	0.296110	T	0.80149	0.4570	N	0.22421	0.69	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.65302	-0.6201	10	0.34782	T	0.22	.	7.4497	0.27231	0.0:0.4872:0.0:0.5128	.	588	P12035	K2C3_HUMAN	S	588;589	ENSP00000413479:G588S;ENSP00000312206:G589S	ENSP00000312206:G589S	G	-	1	0	KRT3	51470218	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.682000	0.01935	-0.284000	0.09102	-0.258000	0.10820	GGC		0.697	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		T	53183951	C	T	53183951	3	4	31	1	0	0	0	0	1	0	0	0	8468	652	23	1	128	1	KRT3	12	53183951	Missense_Mutation	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10	114722	53183951	80667944	32	2261			2	4		2	2	29	N	G_C	4.431892e-05
KRT3	3850	hgsc.bcm.edu	37	12	53183979	53183979	+	Silent	SNP	G	G	A			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr12:53183979G>A	ENST00000417996.2	-	9	1808	c.1734C>T	c.(1732-1734)ggC>ggT	p.G578G	KRT3_ENST00000309505.3_Silent_p.G579G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	578	Gly-rich.|Tail.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						cgctgctgccgccgccaaatc	0.701																																																0													12	28	22					12																	53183979		1691	3337	5028	SO:0001819	synonymous_variant	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1734C>T	chr12.hg19:g.53183979G>A			A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	hg19	CCDS44895.1																																																																																				0.701	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		A	53183979	G	A	53183979	2	1	31	1	0	0	0	0	0	0	0	1	8468	1074	38	1		1	KRT3	12	53183979	Silent	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10	28	53183979	80667916	33	2262			2	4		2	2	29	N	G_C	4.431892e-05
UHRF1BP1L	23074	hgsc.bcm.edu	37	12	100453755	100453755	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr12:100453755A>G	ENST00000279907.7	-	13	1828	c.1616T>C	c.(1615-1617)cTa>cCa	p.L539P	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.L189P	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	539										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATTTAACCATAGAATGCTTCT	0.348																																																0													89	85	87					12																	100453755		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1616T>C	chr12.hg19:g.100453755A>G	ENSP00000279907:p.Leu539Pro		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	hg19	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339180	0.60963	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.22743	2.13;1.94	5.49	5.49	0.81192	.	0.071978	0.56097	D	0.000025	T	0.47021	0.1423	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.48937	-0.8990	10	0.87932	D	0	-5.8001	15.5763	0.76392	1.0:0.0:0.0:0.0	.	539	A0JNW5	UH1BL_HUMAN	P	539;189	ENSP00000279907:L539P;ENSP00000444824:L189P	ENSP00000279907:L539P	L	-	2	0	UHRF1BP1L	98977886	1.000000	0.71417	0.988000	0.46212	0.913000	0.54294	9.339000	0.96797	2.091000	0.63221	0.477000	0.44152	CTA		0.348	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		G	100453755	A	G	100453755	3	3	31	1	0	0	0	0	1	0	0	0	16974	420	15	3	2814	3	UHRF1BP1L	12	100453755	Missense_Mutation	SNP	A	TCGA-5P-A9JZ-01A-11D-A42J-10	47269776	100453755	33398140	34	2263											
MTUS2	23281	hgsc.bcm.edu	37	13	29674966	29674967	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr13:29674966_29674967GG>TT	ENST00000431530.3	+	3	2591_2592	c.2533_2534GG>TT	c.(2533-2535)GGt>TTt	p.G845F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	835	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCGAAATCTGGTCTCCGTCCT	0.475																																																0																																										SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	Exception_encountered	chr13.hg19:g.29674966_29674967delinsTT	ENSP00000392057:p.Gly845Phe		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	hg19	CCDS45022.1																																																																																				0.475	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		TT	29674967	GG	TT	29674966	3	4	31	1	0	0	0	0	1	0	0	0	9968	1348	47	4	2543	4	MTUS2	13	29674966	Missense_Mutation	DNP	GG	TCGA-5P-A9JZ-01A-11D-A42J-10		29674966	85494912	35	2264											
MYH7	4625	hgsc.bcm.edu	37	14	23886164	23886164	+	Missense_Mutation	SNP	G	G	T	rs150552664		TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr14:23886164G>T	ENST00000355349.3	-	33	4719	c.4557C>A	c.(4555-4557)agC>agA	p.S1519R	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1519			S -> C. {ECO:0000269|PubMed:15858117}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1519S(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TAGTCTTTCCGCTGGAACCCA	0.587																																																1	Substitution - coding silent(1)	endometrium(1)											118	106	110					14																	23886164		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4557C>A	chr14.hg19:g.23886164G>T	ENSP00000347507:p.Ser1519Arg		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391880	0.25118	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.82619	-1.63	5.01	-6.56	0.01848	Myosin tail (1);	.	.	.	.	D	0.87083	0.6089	M	0.86573	2.825	0.23893	N	0.996541	B	0.24882	0.113	P	0.47864	0.559	D	0.84711	0.0734	9	0.72032	D	0.01	.	3.7721	0.08646	0.3606:0.1824:0.3674:0.0896	.	1519	P12883	MYH7_HUMAN	R	1519;1524	ENSP00000347507:S1519R	ENSP00000347507:S1519R	S	-	3	2	MYH7	22956004	0.000000	0.05858	0.023000	0.16930	0.057000	0.15508	-4.112000	0.00292	-0.848000	0.04163	-1.405000	0.01134	AGC		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23886164	G	T	23886164	3	4	31	1	0	0	0	0	1	0	0	0	10041	1078	38	4	1282	4	MYH7	14	23886164	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10		23886164	83463376	36	2265											
PPP1R13B	23368	hgsc.bcm.edu	37	14	104219447	104219447	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr14:104219447G>T	ENST00000202556.9	-	7	1000	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	240	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCAATTGCTGACTAAGCTGA	0.423																																																0													156	141	145					14																	104219447		1859	4097	5956	SO:0001583	missense	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.718C>A	chr14.hg19:g.104219447G>T	ENSP00000202556:p.Gln240Lys		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	hg19	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250172	0.59212	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	T	0.28454	1.61	5.74	5.74	0.90152	.	0.168163	0.52532	D	0.000063	T	0.29817	0.0745	L	0.32530	0.975	0.80722	D	1	B	0.24618	0.107	B	0.27076	0.076	T	0.02975	-1.1087	10	0.38643	T	0.18	.	19.9238	0.97097	0.0:0.0:1.0:0.0	.	240	Q96KQ4	ASPP1_HUMAN	K	240;107	ENSP00000202556:Q240K	ENSP00000202556:Q240K	Q	-	1	0	PPP1R13B	103289200	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.915000	0.69973	2.712000	0.92718	0.650000	0.86243	CAG		0.423	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		T	104219447	G	T	104219447	3	4	31	1	0	0	0	0	1	0	0	0	12362	1299	45	4	2598	4	PPP1R13B	14	104219447	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10	80333283	104219447	3130093	37	2266											
HERC2	8924	hgsc.bcm.edu	37	15	28377879	28377879	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr15:28377879C>T	ENST00000261609.7	-	80	12436	c.12328G>A	c.(12328-12330)Ggg>Agg	p.G4110R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TAGAGGTCCCCGGCTGCTGTG	0.642																																																0													66	72	70					15																	28377879		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12328G>A	chr15.hg19:g.28377879C>T	ENSP00000261609:p.Gly4110Arg			Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370568	0.95900	.	.	ENSG00000128731	ENST00000261609	D	0.98060	-4.69	4.86	4.86	0.63082	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98643	1.0676	10	0.87932	D	0	.	18.3848	0.90463	0.0:1.0:0.0:0.0	.	4110	O95714	HERC2_HUMAN	R	4110	ENSP00000261609:G4110R	ENSP00000261609:G4110R	G	-	1	0	HERC2	26051474	1.000000	0.71417	0.978000	0.43139	0.966000	0.64601	7.765000	0.85310	2.418000	0.82041	0.555000	0.69702	GGG		0.642	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		T	28377879	C	T	28377879	3	4	31	1	0	0	0	0	1	0	0	0	7060	652	23	1	2232	1	HERC2	15	28377879	Missense_Mutation	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10		28377879	74153513	38	2267											
CAPN3	825	hgsc.bcm.edu	37	15	42678446	42678446	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr15:42678446G>C	ENST00000397163.3	+	3	680	c.461G>C	c.(460-462)aGt>aCt	p.S154T	CAPN3_ENST00000357568.3_Missense_Mutation_p.S154T|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.S154T|CAPN3_ENST00000356316.3_Missense_Mutation_p.S67T|CAPN3_ENST00000318023.7_Missense_Mutation_p.S154T	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	154	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATGATCAAAGTTTCATCGAA	0.567											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													127	106	113					15																	42678446		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.461G>C	chr15.hg19:g.42678446G>C	ENSP00000380349:p.Ser154Thr	910	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	hg19	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976764	0.53720	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	6.07	5.14	0.70334	Peptidase C2, calpain, catalytic domain (3);	0.233701	0.41396	U	0.000881	D	0.87962	0.6310	M	0.81112	2.525	0.53005	D	0.999969	B;B;B;B;B;B	0.12013	0.001;0.005;0.001;0.003;0.004;0.001	B;B;B;B;B;B	0.17722	0.01;0.01;0.006;0.011;0.019;0.005	D	0.84491	0.0611	10	0.59425	D	0.04	.	8.4683	0.32969	0.0892:0.2647:0.6461:0.0	.	67;67;154;154;154;67	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	T	67;154;154;154;154	ENSP00000348667:S67T;ENSP00000380349:S154T;ENSP00000350181:S154T;ENSP00000183936:S154T;ENSP00000326281:S154T	ENSP00000326281:S154T	S	+	2	0	CAPN3	40465738	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.094000	0.64523	2.890000	0.99128	0.650000	0.86243	AGT		0.567	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			C	42678446	G	C	42678446	3	2	31	1	0	0	0	0	1	0	0	0	2630	1029	36	4	523	4	CAPN3	15	42678446	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10	14300567	42678446	59852946	39	2268											
MAP1A	4130	hgsc.bcm.edu	37	15	43816966	43816966	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr15:43816966G>C	ENST00000300231.5	+	4	3745	c.3295G>C	c.(3295-3297)Gtc>Ctc	p.V1099L	MAP1A_ENST00000399453.1_Missense_Mutation_p.V1099L|MAP1A_ENST00000382031.1_Missense_Mutation_p.V1337L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1099					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TAAAGCAATAGTCTTTGAGAT	0.547																																																0													84	87	86					15																	43816966		1940	4122	6062	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3295G>C	chr15.hg19:g.43816966G>C	ENSP00000300231:p.Val1099Leu		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	hg19	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551496	0.27739	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01685	4.69;4.7;4.7	5.22	4.31	0.51392	.	0.000000	0.31145	N	0.008170	T	0.02767	0.0083	M	0.75447	2.3	0.28523	N	0.912969	B	0.32101	0.356	B	0.31290	0.127	T	0.16958	-1.0385	10	0.32370	T	0.25	-17.6786	6.9319	0.24445	0.1487:0.0:0.8513:0.0	.	1099	P78559	MAP1A_HUMAN	L	1337;1099;1099	ENSP00000371462:V1337L;ENSP00000382380:V1099L;ENSP00000300231:V1099L	ENSP00000300231:V1099L	V	+	1	0	MAP1A	41604258	0.744000	0.28250	0.999000	0.59377	0.576000	0.36127	1.627000	0.37050	2.894000	0.99253	0.655000	0.94253	GTC		0.547	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		C	43816966	G	C	43816966	3	2	31	1	0	0	0	0	1	0	0	0	9229	1029	36	4	3297	4	MAP1A	15	43816966	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10	1138520	43816966	58714426	40	2269											
TM4SF5	9032	hgsc.bcm.edu	37	17	4686223	4686223	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr17:4686223C>T	ENST00000270560.3	+	4	501	c.470C>T	c.(469-471)aCg>aTg	p.T157M		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	157						integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(3)|ovary(1)	6						TGGAATGTGACGCTCTTCTCG	0.637																																																0													76	72	73					17																	4686223		2203	4300	6503	SO:0001583	missense	9032			AF027204	CCDS11054.1	17p13.3	2007-01-06	2005-03-21		ENSG00000142484	ENSG00000142484			11857	protein-coding gene	gene with protein product		604657	"transmembrane 4 superfamily member 5"			9479038	Standard	NM_003963		Approved		uc002fyw.1	O14894	OTTHUMG00000090776	ENST00000270560.3:c.470C>T	chr17.hg19:g.4686223C>T	ENSP00000270560:p.Thr157Met		Q17RW9|Q6IB79	Missense_Mutation	SNP	ENST00000270560.3	hg19	CCDS11054.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698656	0.48307	.	.	ENSG00000142484	ENST00000270560	T	0.33865	1.39	5.71	2.51	0.30379	.	0.225720	0.44902	D	0.000418	T	0.51618	0.1685	M	0.82823	2.61	0.29698	N	0.840385	D	0.64830	0.994	P	0.60886	0.88	T	0.51888	-0.8648	10	0.72032	D	0.01	-3.5111	4.4304	0.11524	0.0:0.5775:0.1699:0.2526	.	157	O14894	T4S5_HUMAN	M	157	ENSP00000270560:T157M	ENSP00000270560:T157M	T	+	2	0	TM4SF5	4632970	0.833000	0.29383	0.764000	0.31436	0.125000	0.20455	1.159000	0.31749	1.413000	0.46997	0.655000	0.94253	ACG		0.637	TM4SF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207558.2			T	4686223	C	T	4686223	3	4	31	1	0	0	0	0	1	0	0	0	15976	536	19	1	484	1	TM4SF5	17	4686223	Missense_Mutation	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10		4686223	76508987	41	2270											
PFAS	5198	hgsc.bcm.edu	37	17	8170960	8170960	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr17:8170960C>A	ENST00000314666.6	+	26	3492	c.3359C>A	c.(3358-3360)gCa>gAa	p.A1120E	PFAS_ENST00000545834.1_Missense_Mutation_p.A696E	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1120	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TTCAGCTATGCAGATGTCCTG	0.607																																																0													121	108	112					17																	8170960		2203	4300	6503	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3359C>A	chr17.hg19:g.8170960C>A	ENSP00000313490:p.Ala1120Glu		A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	hg19	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719074	0.68844	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.30448	1.53;2.26	5.68	5.68	0.88126	Glutamine amidotransferase type 1 (1);	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.65134	-0.6242	10	0.87932	D	0	-12.8738	17.2855	0.87140	0.0:1.0:0.0:0.0	.	1120;1120	A8K8N7;O15067	.;PUR4_HUMAN	E	696;1120;529	ENSP00000441706:A696E;ENSP00000313490:A1120E	ENSP00000313490:A1120E	A	+	2	0	PFAS	8111685	1.000000	0.71417	0.784000	0.31847	0.066000	0.16364	5.285000	0.65633	2.688000	0.91661	0.563000	0.77884	GCA		0.607	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			A	8170960	C	A	8170960	3	1	31	1	0	0	0	0	1	0	0	0	11756	710	25	4	3457	4	PFAS	17	8170960	Missense_Mutation	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10	3484737	8170960	73024250	42	2271											
PGS1	9489	hgsc.bcm.edu	37	17	76411070	76411070	+	Missense_Mutation	SNP	G	G	T	rs372229822		TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr17:76411070G>T	ENST00000262764.6	+	8	1539	c.1513G>T	c.(1513-1515)Gtg>Ttg	p.V505L	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Missense_Mutation_p.V370L	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	505					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GATTGCGATCGTGACGGAGAA	0.627																																					Esophageal Squamous(45;182 1126 10685 43198)											0													53	56	55					17																	76411070		2050	4218	6268	SO:0001583	missense	9489				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1513G>T	chr17.hg19:g.76411070G>T	ENSP00000262764:p.Val505Leu		B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	hg19	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569404	0.65765	.	.	ENSG00000087157	ENST00000262764;ENST00000329897	T;T	0.12984	2.63;2.63	4.52	4.52	0.55395	.	32.001500	0.00769	N	0.001196	T	0.23532	0.0569	L	0.60845	1.875	0.80722	D	1	P	0.48694	0.914	B	0.39935	0.314	T	0.45571	-0.9252	10	0.59425	D	0.04	-16.446	17.458	0.87612	0.0:0.0:1.0:0.0	.	505	Q32NB8	PGPS1_HUMAN	L	505;370	ENSP00000262764:V505L;ENSP00000330039:V370L	ENSP00000262764:V505L	V	+	1	0	PGS1	73922665	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	9.112000	0.94314	2.337000	0.79520	0.561000	0.74099	GTG		0.627	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		T	76411070	G	T	76411070	3	4	31	1	0	0	0	0	1	0	0	0	11810	1145	40	4	1543	4	PGS1	17	76411070	Missense_Mutation	SNP	G	TCGA-5P-A9JZ-01A-11D-A42J-10	68240110	76411070	4784140	43	2272											
PRKCSH	5589	hgsc.bcm.edu	37	19	11558373	11558373	+	Silent	SNP	A	A	G			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr19:11558373A>G	ENST00000589838.1	+	10	969	c.969A>G	c.(967-969)gaA>gaG	p.E323E	PRKCSH_ENST00000592741.1_Silent_p.E323E|PRKCSH_ENST00000587327.1_Silent_p.E323E|PRKCSH_ENST00000252455.2_Silent_p.E323E|PRKCSH_ENST00000591462.1_Silent_p.E323E|PRKCSH_ENST00000412601.1_Silent_p.E323E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	323	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaagaagaggctg	0.642																																																0																																										SO:0001819	synonymous_variant	5589				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.969A>G	chr19.hg19:g.11558373A>G			A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	hg19	CCDS32911.1																																																																																				0.642	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			G	11558373	A	G	11558373	2	3	31	1	0	0	0	0	0	0	0	1	12521	69	3	3		3	PRKCSH	19	11558373	Silent	SNP	A	TCGA-5P-A9JZ-01A-11D-A42J-10		11558373	47570610	44	2273											
RNASEH2A	10535	hgsc.bcm.edu	37	19	12921202	12921202	+	Silent	SNP	C	C	A			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr19:12921202C>A	ENST00000221486.4	+	6	715	c.621C>A	c.(619-621)ggC>ggA	p.G207G		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	207					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CTGATTATGGCTCAGGCTACC	0.512																																																0													98	90	93					19																	12921202		2203	4300	6503	SO:0001819	synonymous_variant	10535			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"ribonuclease H2, large subunit", "Aicardi-Goutieres syndrome 4"			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.621C>A	chr19.hg19:g.12921202C>A			B2RCY1|Q96F11	Silent	SNP	ENST00000221486.4	hg19	CCDS12282.1																																																																																				0.512	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		A	12921202	C	A	12921202	2	1	31	1	0	0	0	0	0	0	0	1	13418	784	28	4		4	RNASEH2A	19	12921202	Silent	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10	1362829	12921202	46207781	45	2274											
PTPRH	5794	hgsc.bcm.edu	37	19	55710166	55710166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr19:55710166C>T	ENST00000376350.3	-	8	1557	c.1535G>A	c.(1534-1536)tGg>tAg	p.W512*	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Nonsense_Mutation_p.W334*	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	512	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTCCCTGACCCATGAGACCCA	0.587																																																0													130	110	116					19																	55710166		2203	4300	6503	SO:0001587	stop_gained	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1535G>A	chr19.hg19:g.55710166C>T	ENSP00000365528:p.Trp512*		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Nonsense_Mutation	SNP	ENST00000376350.3	hg19	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511395	0.64522	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	.	.	.	3.19	2.14	0.27477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	7.8788	0.29610	0.2465:0.7535:0.0:0.0	.	.	.	.	X	512;334	.	ENSP00000263434:W334X	W	-	2	0	PTPRH	60401978	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	0.767000	0.26575	0.935000	0.37341	-0.219000	0.12488	TGG		0.587	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			T	55710166	C	T	55710166	4	4	31	1	0	0	0	0	0	1	0	0	12809	595	21	2	1864	2	PTPRH	19	55710166	Nonsense_Mutation	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10	42788964	55710166	3418817	46	2275											
SF3A1	10291	hgsc.bcm.edu	37	22	30731504	30731513	+	Frame_Shift_Del	DEL	AATCTTCACC	AATCTTCACC	-			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	AATCTTCACC	AATCTTCACC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chr22:30731504_30731513delAATCTTCACC	ENST00000215793.8	-	15	2377_2386	c.2223_2232delGGTGAAGATT	c.(2221-2232)aaggtgaagattfs	p.KVKI741fs	SF3A1_ENST00000439242.1_Frame_Shift_Del_p.KVKI676fs	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	741	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TGGCTTCATGAATCTTCACCTTAATGACAG	0.514																																																0																																										SO:0001589	frameshift_variant	10291			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.2223_2232delGGTGAAGATT	chr22.hg19:g.30731504_30731513delAATCTTCACC	ENSP00000215793:p.Lys741fs		E9PAW1	Frame_Shift_Del	DEL	ENST00000215793.8	hg19	CCDS13875.1																																																																																				0.514	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		-	30731513	AATCTTCACC	-	30731504	7	5	31	1	0	1	0	1	0	0	0	0	14152	242	9	0	157	0	SF3A1	22	30731504	Frame_Shift_Del	DEL	AATCTTCACC	TCGA-5P-A9JZ-01A-11D-A42J-10		30731504	20573062	47	2276											
AR	367	hgsc.bcm.edu	37	X	66765152	66765152	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chrX:66765152T>A	ENST00000374690.3	+	1	688	c.164T>A	c.(163-165)cTg>cAg	p.L55Q	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.L55Q|AR_ENST00000396044.3_Missense_Mutation_p.L55Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	55	Modulating.|Poly-Leu.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GCCAGTTTGCTGCTGCTgcag	0.662									Androgen Insensitivity Syndrome																																							0													11	14	13					X																	66765152		2169	4252	6421	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.164T>A	chrX.hg19:g.66765152T>A	ENSP00000363822:p.Leu55Gln		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	N	7.392	0.630975	0.14322	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.58797	0.31;0.31;0.31	.	.	.	.	0.268702	0.26919	N	0.021823	T	0.26666	0.0652	N	0.08118	0	0.09310	N	0.999996	B;B	0.17852	0.006;0.024	B;B	0.04013	0.0;0.001	T	0.17107	-1.0380	8	0.10111	T	0.7	.	.	.	.	.	55;55	E7EVX6;D3YPQ2	.;.	Q	55	ENSP00000363822:L55Q;ENSP00000421155:L55Q;ENSP00000379359:L55Q	ENSP00000363822:L55Q	L	+	2	0	AR	66681877	0.998000	0.40836	0.922000	0.36590	0.480000	0.33159	0.009000	0.13219	0.000000	0.14550	0.000000	0.15137	CTG		0.662	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		A	66765152	T	A	66765152	3	1	31	1	0	0	0	0	1	0	0	0	836	1580	55	5	166	5	AR	23	66765152	Missense_Mutation	SNP	T	TCGA-5P-A9JZ-01A-11D-A42J-10		66765152	88505408	48	2277											
GPR50	9248	hgsc.bcm.edu	37	X	150349201	150349201	+	Silent	SNP	C	C	T			TCGA-5P-A9JZ-01A-11D-A42J-10	TCGA-5P-A9JZ-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	52e2c3e0-b7fa-491c-b9ab-525d210a1837	b000234d-c290-4ae5-9ce1-305e268770ab	g.chrX:150349201C>T	ENST00000218316.3	+	2	1215	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	382	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCGACCGTGCCTCTGGCCACC	0.582																																																0													94	106	102					X																	150349201		2140	4224	6364	SO:0001819	synonymous_variant	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1146C>T	chrX.hg19:g.150349201C>T			Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	hg19	CCDS44012.1																																																																																				0.582	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		T	150349201	C	T	150349201	2	4	31	1	0	0	0	0	0	0	0	1	6699	668	24	2		2	GPR50	23	150349201	Silent	SNP	C	TCGA-5P-A9JZ-01A-11D-A42J-10	83584049	150349201	4921359	49	2278											
PIK3CD	5293	hgsc.bcm.edu	37	1	9781589	9781589	+	Silent	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr1:9781589G>A	ENST00000377346.4	+	15	2094	c.1899G>A	c.(1897-1899)ctG>ctA	p.L633L	PIK3CD_ENST00000361110.2_Silent_p.L657L|PIK3CD_ENST00000536656.1_Silent_p.L657L|PIK3CD_ENST00000543390.1_Silent_p.L300L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	633	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCAAATTCCTGCTGGACCGGG	0.617											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													58	59	59					1																	9781589		2203	4300	6503	SO:0001819	synonymous_variant	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1899G>A	chr1.hg19:g.9781589G>A		659	A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	hg19	CCDS104.1																																																																																				0.617	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		A	9781589	G	A	9781589	2	1	32	1	0	0	0	0	0	0	0	1	11917	1306	46	2		2	PIK3CD	1	9781589	Silent	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10		9781589	239469032	1	2279											
GPSM2	29899	hgsc.bcm.edu	37	1	109440639	109440645	+	Frame_Shift_Del	DEL	GTTTTGG	GTTTTGG	-			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	GTTTTGG	GTTTTGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr1:109440639_109440645delGTTTTGG	ENST00000406462.2	+	6	1246_1252	c.473_479delGTTTTGG	c.(472-480)agttttggtfs	p.SFG158fs	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Frame_Shift_Del_p.SFG158fs			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	158					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AAAGGGAAAAGTTTTGGTTGCCCTGGT	0.449																																																0																																										SO:0001589	frameshift_variant	29899			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.473_479delGTTTTGG	chr1.hg19:g.109440639_109440645delGTTTTGG	ENSP00000385510:p.Ser158fs		Q5T1N8|Q6IBL7|Q8N0Z5	Frame_Shift_Del	DEL	ENST00000406462.2	hg19	CCDS792.2																																																																																				0.449	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		-	109440645	GTTTTGG	-	109440639	7	5	32	1	0	1	0	1	0	0	0	0	6737	1029	36	0	487	0	GPSM2	1	109440639	Frame_Shift_Del	DEL	GTTTTGG	TCGA-5P-A9K0-01A-11D-A42J-10	99659050	109440639	139809982	2	2280											
BCL9	607	hgsc.bcm.edu	37	1	147086326	147086331	+	In_Frame_Del	DEL	CCATGG	CCATGG	-			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	CCATGG	CCATGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr1:147086326_147086331delCCATGG	ENST00000234739.3	+	6	1211_1216	c.471_476delCCATGG	c.(469-477)tcccatggc>tcc	p.HG158del	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	158					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTACCCCCTCCCATGGCCAAACTACT	0.51			T	"IGH@, IGL@"	B-ALL																																		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0																																										SO:0001651	inframe_deletion	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.471_476delCCATGG	chr1.hg19:g.147086326_147086331delCCATGG	ENSP00000234739:p.His158_Gly159del		Q5T489	In_Frame_Del	DEL	ENST00000234739.3	hg19	CCDS30833.1																																																																																				0.51	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		-	147086331	CCATGG	-	147086326	7	5	32	1	0	1	0	1	0	0	0	0	1381	610	22	0	481	0	BCL9	1	147086326	In_Frame_Del	DEL	CCATGG	TCGA-5P-A9K0-01A-11D-A42J-10	37645687	147086326	102164295	3	2281											
ECM1	1893	hgsc.bcm.edu	37	1	150483676	150483676	+	Splice_Site	SNP	T	T	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr1:150483676T>A	ENST00000369047.4	+	6	833		c.e6+2		ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Splice_Site|ECM1_ENST00000346569.6_Splice_Site	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1						angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAACTTGTGGTAAGGTTGGGT	0.547																																					Melanoma(156;1696 2560 11093 19685)											0													74	79	77					1																	150483676		2203	4300	6503	SO:0001630	splice_region_variant	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.708+2T>A	chr1.hg19:g.150483676T>A			A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Splice_Site	SNP	ENST00000369047.4	hg19	CCDS953.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.374014	0.24857	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7152	0.46008	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ECM1	148750300	1.000000	0.71417	0.999000	0.59377	0.164000	0.22412	3.764000	0.55264	2.046000	0.60703	0.533000	0.62120	.		0.547	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425	Intron	A	150483676	T	A	150483676	5	1	32	1	0	0	0	0	0	0	1	0	4899	1652	57	5	732	5	ECM1	1	150483676	Splice_Site	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	3397350	150483676	98766945	4	2282											
GLUL	2752	hgsc.bcm.edu	37	1	182357774	182357774	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr1:182357774delG	ENST00000331872.6	-	2	639	c.99delC	c.(97-99)atcfs	p.I33fs	GLUL_ENST00000417584.2_Frame_Shift_Del_p.I33fs|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Frame_Shift_Del_p.I33fs|GLUL_ENST00000311223.5_Frame_Shift_Del_p.I33fs	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	33					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.I33I(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	CAGTACCATCGATCCAGATAT	0.537																																																1	Substitution - coding silent(1)	large_intestine(1)											164	146	152					1																	182357774		2203	4300	6503	SO:0001589	frameshift_variant	2752			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"glutamine synthetase"	138290	"glutamate-ammonia ligase (glutamine synthase)"	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.99delC	chr1.hg19:g.182357774delG	ENSP00000356537:p.Ile33fs		Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Frame_Shift_Del	DEL	ENST00000331872.6	hg19	CCDS1344.1																																																																																				0.537	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		-	182357774	G	-	182357774	7	5	32	1	0	1	0	1	0	0	0	0	6480	1048	37	0	1046	0	GLUL	1	182357774	Frame_Shift_Del	DEL	G	TCGA-5P-A9K0-01A-11D-A42J-10	31874098	182357774	66892847	5	2283											
OR14C36	127066	hgsc.bcm.edu	37	1	248512735	248512735	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr1:248512735T>G	ENST00000317861.1	+	1	659	c.659T>G	c.(658-660)tTt>tGt	p.F220C		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTCACATCTTTTCGACCGTG	0.502																																																0													189	156	167					1																	248512735		2203	4300	6503	SO:0001583	missense	127066			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.659T>G	chr1.hg19:g.248512735T>G	ENSP00000324534:p.Phe220Cys		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	hg19	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400474	0.25291	.	.	ENSG00000177174	ENST00000317861	T	0.00211	8.54	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000198	T	0.00468	0.0015	M	0.78456	2.415	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.41016	-0.9532	10	0.66056	D	0.02	.	7.653	0.28358	0.0:0.0991:0.0:0.9009	.	220	Q8NHC7	O14CZ_HUMAN	C	220	ENSP00000324534:F220C	ENSP00000324534:F220C	F	+	2	0	OR14C36	246579358	0.003000	0.15002	0.981000	0.43875	0.279000	0.26890	1.430000	0.34914	1.654000	0.50703	0.324000	0.21423	TTT		0.502	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		G	248512735	T	G	248512735	3	3	32	1	0	0	0	0	1	0	0	0	10948	1841	64	5	661	5	OR14C36	1	248512735	Missense_Mutation	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	66154961	248512735	737886	6	2284											
HNRPLL	92906	hgsc.bcm.edu	37	2	38812955	38812955	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr2:38812955T>C	ENST00000449105.3	-	3	716	c.377A>G	c.(376-378)gAa>gGa	p.E126G	HNRNPLL_ENST00000608859.1_Missense_Mutation_p.E126G|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.E121G|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.E126G|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.E126G|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.E121G|HNRNPLL_ENST00000358367.4_Missense_Mutation_p.E126G			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	126	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										TGTCACACATTCTTTGGCACT	0.408																																																0													165	148	153					2																	38812955		2203	4300	6503	SO:0001583	missense	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.377A>G	chr2.hg19:g.38812955T>C	ENSP00000390625:p.Glu126Gly		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	hg19		.	.	.	.	.	.	.	.	.	.	T	13.11	2.138987	0.37728	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328;ENST00000358367;ENST00000410076;ENST00000425682	T;T;T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06;3.06;3.06	5.99	4.84	0.62591	.	0.378699	0.30602	N	0.009261	T	0.10078	0.0247	L	0.56280	1.765	0.32157	N	0.58347	B;B	0.14012	0.009;0.009	B;B	0.14023	0.01;0.01	T	0.04005	-1.0985	10	0.30854	T	0.27	.	11.8201	0.52235	0.0:0.0677:0.0:0.9323	.	121;126	C9J9G0;D6W592	.;.	G	126;121;126;126;126;121;65	ENSP00000390625:E126G;ENSP00000387088:E121G;ENSP00000368195:E126G;ENSP00000386575:E126G;ENSP00000351136:E126G;ENSP00000386695:E121G;ENSP00000396669:E65G	ENSP00000351136:E126G	E	-	2	0	HNRPLL	38666459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.046000	0.57376	1.100000	0.41517	0.533000	0.62120	GAA		0.408	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		C	38812955	T	C	38812955	3	2	32	1	0	0	0	0	1	0	0	0	7279	1783	62	3	1295	3	HNRPLL	2	38812955	Missense_Mutation	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10		38812955	204386418	7	2285											
OXER1	165140	hgsc.bcm.edu	37	2	42990746	42990746	+	Silent	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr2:42990746G>A	ENST00000378661.2	-	1	655	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	192					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						ACCACCTTCAGGTAGCGGTTG	0.657																																																0													47	38	42					2																	42990746		2203	4300	6503	SO:0001819	synonymous_variant	165140			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.574C>T	chr2.hg19:g.42990746G>A			Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	hg19	CCDS1810.1																																																																																				0.657	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		A	42990746	G	A	42990746	2	1	32	1	0	0	0	0	0	0	0	1	11333	991	35	2		2	OXER1	2	42990746	Silent	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	4177791	42990746	200208627	8	2286											
ATP6V1E2	90423	hgsc.bcm.edu	37	2	46739823	46739824	+	Missense_Mutation	DNP	TT	TT	GA			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr2:46739823_46739824TT>GA	ENST00000306448.4	-	2	1140_1141	c.27_28AA>TC	c.(25-30)aaAAag>aaTCag	p.9_10KK>NQ	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.9_10KK>NQ	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	9					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TTAATCTGCTTTTTCACATCGA	0.49																																																0																																										SO:0001583	missense	90423			BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"ATPases / V-type"	18125	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.27_28delinsGA	chr2.hg19:g.46739823_46739824delinsGA	ENSP00000304891:p.K9_K10delinsNQ			Missense_Mutation	SNP	ENST00000306448.4	hg19	CCDS1826.1																																																																																				0.49	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653		GA	46739824	TT	GA	46739823	3	3	32	1	0	0	0	0	1	0	0	0	1184	1850	64	5	656	5	ATP6V1E2	2	46739823	Missense_Mutation	DNP	TT	TCGA-5P-A9K0-01A-11D-A42J-10	3749077	46739823	196459550	9	2287											
CNTNAP5	129684	hgsc.bcm.edu	37	2	125204404	125204404	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr2:125204404C>G	ENST00000431078.1	+	6	1172	c.808C>G	c.(808-810)Cac>Gac	p.H270D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	270	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.H270N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCAGCACTGGCACTCGGTCCT	0.607																																																1	Substitution - Missense(1)	lung(1)											73	77	76					2																	125204404		2165	4283	6448	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.808C>G	chr2.hg19:g.125204404C>G	ENSP00000399013:p.His270Asp		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607383	0.87157	.	.	ENSG00000155052	ENST00000431078	D	0.86956	-2.19	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.53938	D	0.000053	D	0.96034	0.8708	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96573	0.9424	10	0.87932	D	0	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	270	Q8WYK1	CNTP5_HUMAN	D	270	ENSP00000399013:H270D	ENSP00000399013:H270D	H	+	1	0	CNTNAP5	124920874	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.666000	0.83877	2.941000	0.99782	0.655000	0.94253	CAC		0.607	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			G	125204404	C	G	125204404	3	3	32	1	0	0	0	0	1	0	0	0	3652	710	25	4	830	4	CNTNAP5	2	125204404	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	78464581	125204404	117994969	10	2288											
SF3B1	23451	hgsc.bcm.edu	37	2	198272752	198272752	+	Silent	SNP	T	T	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr2:198272752T>C	ENST00000335508.6	-	9	1300	c.1209A>G	c.(1207-1209)gaA>gaG	p.E403E		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	403	Interaction with PPP1R8.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGCATCTAATTCCTCATCAG	0.363			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													92	90	91					2																	198272752		2203	4300	6503	SO:0001819	synonymous_variant	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1209A>G	chr2.hg19:g.198272752T>C			E9PCH3	Silent	SNP	ENST00000335508.6	hg19	CCDS33356.1																																																																																				0.363	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			C	198272752	T	C	198272752	2	2	32	1	0	0	0	0	0	0	0	1	14155	1490	52	3		3	SF3B1	2	198272752	Silent	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	73068348	198272752	44926621	11	2289											
TNS1	7145	hgsc.bcm.edu	37	2	218683236	218683236	+	Silent	SNP	A	A	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr2:218683236A>G	ENST00000171887.4	-	24	3959	c.3507T>C	c.(3505-3507)gcT>gcC	p.A1169A	TNS1_ENST00000430930.1_Silent_p.A1148A|TNS1_ENST00000419504.1_Silent_p.A1156A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1169					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGTGGACGCCAGCCACACTGA	0.632																																																0													51	55	54					2																	218683236		2203	4300	6503	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3507T>C	chr2.hg19:g.218683236A>G			Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	hg19	CCDS2407.1																																																																																				0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218683236	A	G	218683236	2	3	32	1	0	0	0	0	0	0	0	1	16348	175	7	3		3	TNS1	2	218683236	Silent	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10	20410484	218683236	24516137	12	2290											
TNS1	7145	hgsc.bcm.edu	37	2	218712606	218712607	+	Frame_Shift_Ins	INS	-	-	A	rs1364641	byFrequency	TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr2:218712606_218712607insA	ENST00000171887.4	-	17	2710_2711	c.2258_2259insT	c.(2257-2259)tccfs	p.S753fs	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_Frame_Shift_Ins_p.S753fs|TNS1_ENST00000419504.1_Frame_Shift_Ins_p.S753fs	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	753					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGACTGACGGGAGGATCCAGA	0.653																																																0																																										SO:0001589	frameshift_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2258_2259insT	chr2.hg19:g.218712606_218712607insA	ENSP00000171887:p.Ser753fs		Q4ZG71|Q6IPI5	Frame_Shift_Ins	INS	ENST00000171887.4	hg19	CCDS2407.1																																																																																				0.653	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		A	218712607	-	A	218712606	7	5	32	1	0	1	1	0	0	0	0	0	16348	1219	43	0	3016	0	TNS1	2	218712606	Frame_Shift_Ins	INS	-	TCGA-5P-A9K0-01A-11D-A42J-10	29370	218712606	24486767	13	2291											
CRTAP	10491	hgsc.bcm.edu	37	3	33155650	33155650	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:33155650A>C	ENST00000320954.6	+	1	180	c.81A>C	c.(79-81)caA>caC	p.Q27H	CRTAP_ENST00000449224.1_Missense_Mutation_p.Q27H	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	27					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GGCGCGCCCAATACGAACGCT	0.736																																																0													9	9	9					3																	33155650		2106	4146	6252	SO:0001583	missense	10491			AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"leprecan-like 3"	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.81A>C	chr3.hg19:g.33155650A>C	ENSP00000323696:p.Gln27His		B2RBL6	Missense_Mutation	SNP	ENST00000320954.6	hg19	CCDS2657.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.540586	0.65085	.	.	ENSG00000170275	ENST00000320954;ENST00000509775;ENST00000539684;ENST00000449224;ENST00000423366	T;T	0.76968	-1.06;-1.06	4.13	2.28	0.28536	.	0.000000	0.85682	D	0.000000	D	0.86167	0.5868	M	0.81497	2.545	0.52099	D	0.99994	D;D	0.64830	0.994;0.994	D;D	0.78314	0.991;0.991	D	0.86505	0.1806	10	0.87932	D	0	-0.1463	10.1	0.42499	0.2355:0.0:0.7645:0.0	.	27;27	C9JP16;O75718	.;CRTAP_HUMAN	H	27	ENSP00000323696:Q27H;ENSP00000409997:Q27H	ENSP00000323696:Q27H	Q	+	3	2	CRTAP	33130654	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	2.883000	0.48554	0.946000	0.37632	-0.407000	0.06327	CAA		0.736	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253246.3			C	33155650	A	C	33155650	3	2	32	1	0	0	0	0	1	0	0	0	3900	98	4	5	83	5	CRTAP	3	33155650	Missense_Mutation	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10		33155650	164866780	14	2292											
ACAA1	30	hgsc.bcm.edu	37	3	38167691	38167691	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:38167691C>G	ENST00000333167.8	-	9	1131	c.959G>C	c.(958-960)gGa>gCa	p.G320A	ACAA1_ENST00000450296.1_Missense_Mutation_p.G279A|ACAA1_ENST00000301810.7_Intron|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000544624.1_3'UTR|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	320					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		ATAGGCAGGTCCAATGCCCAT	0.572																																																0													89	71	77					3																	38167691		2203	4300	6503	SO:0001583	missense	30			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.959G>C	chr3.hg19:g.38167691C>G	ENSP00000333664:p.Gly320Ala		G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	hg19	CCDS2673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.6|29.6	5.017968|5.017968	0.93404|0.93404	.|.	.|.	ENSG00000060971|ENSG00000060971	ENST00000421218|ENST00000333167;ENST00000450296;ENST00000358122	.|D;D	.|0.92805	.|-3.11;-3.11	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	.|0.053952	.|0.64402	.|D	.|0.000001	D|D	0.95452|0.95452	0.8523|0.8523	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.65815	.|0.991;0.995;0.993	.|D;D;D	.|0.69142	.|0.92;0.962;0.952	D|D	0.95909|0.95909	0.8921|0.8921	5|10	.|0.87932	.|D	.|0	-17.279|-17.279	18.5603|18.5603	0.91097|0.91097	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|252;279;320	.|F5GXL8;C9JDE9;P09110	.|.;.;THIK_HUMAN	H|A	210|320;279;252	.|ENSP00000333664:G320A;ENSP00000395183:G279A	.|ENSP00000333664:G320A	D|G	-|-	1|2	0|0	ACAA1|ACAA1	38142695|38142695	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.935000|0.935000	0.57460|0.57460	7.320000|7.320000	0.79064|0.79064	2.371000|2.371000	0.80710|0.80710	0.650000|0.650000	0.86243|0.86243	GAC|GGA		0.572	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		G	38167691	C	G	38167691	3	3	32	1	0	0	0	0	1	0	0	0	104	855	30	4	331	4	ACAA1	3	38167691	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	5012041	38167691	159854739	15	2293											
USP4	7375	hgsc.bcm.edu	37	3	49338037	49338037	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:49338037A>C	ENST00000265560.4	-	11	1421	c.1375T>G	c.(1375-1377)Ttg>Gtg	p.L459V	USP4_ENST00000351842.4_Missense_Mutation_p.L412V|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	459	Necessary for interaction with RB1 and RBL2. {ECO:0000250}.|USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GGGCAAACCAAAGTAGATTTG	0.463																																																0													126	108	114					3																	49338037		2203	4300	6503	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1375T>G	chr3.hg19:g.49338037A>C	ENSP00000265560:p.Leu459Val		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	hg19	CCDS2793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.14|19.14	3.769182|3.769182	0.69992|0.69992	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000431357|ENST00000351842;ENST00000265560	.|T;T	.|0.35048	.|1.33;1.33	5.93|5.93	2.34|2.34	0.29019|0.29019	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46870|0.46870	0.1415|0.1415	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	.|P;B;D	.|0.76494	.|0.939;0.218;0.999	.|P;P;D	.|0.87578	.|0.714;0.489;0.998	T|T	0.33214|0.33214	-0.9877|-0.9877	5|10	.|0.52906	.|T	.|0.07	-15.2249|-15.2249	7.059|7.059	0.25115|0.25115	0.6063:0.0:0.3937:0.0|0.6063:0.0:0.3937:0.0	.|.	.|412;459;459	.|Q13107-2;Q13107;Q08AK7	.|.;UBP4_HUMAN;.	C|V	197|412;459	.|ENSP00000341028:L412V;ENSP00000265560:L459V	.|ENSP00000265560:L459V	F|L	-|-	2|1	0|2	USP4|USP4	49313041|49313041	0.942000|0.942000	0.31987|0.31987	0.976000|0.976000	0.42696|0.42696	0.954000|0.954000	0.61252|0.61252	1.828000|1.828000	0.39111|0.39111	0.501000|0.501000	0.28013|0.28013	0.459000|0.459000	0.35465|0.35465	TTT|TTG		0.463	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		C	49338037	A	C	49338037	3	2	32	1	0	0	0	0	1	0	0	0	17076	11	1	5	1564	5	USP4	3	49338037	Missense_Mutation	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10	11170346	49338037	148684393	16	2294											
RBM15B	29890	hgsc.bcm.edu	37	3	51431290	51431290	+	Silent	SNP	T	T	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:51431290T>C	ENST00000323686.4	+	1	2560	c.2460T>C	c.(2458-2460)ctT>ctC	p.L820L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	820	Interaction with Epstein-Barr virus BMLF1.|SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAGGCGGCTTCTCAGGAACC	0.637																																																0													26	30	29					3																	51431290		2203	4300	6503	SO:0001819	synonymous_variant	29890			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2460T>C	chr3.hg19:g.51431290T>C			A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	hg19	CCDS33764.1																																																																																				0.637	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		C	51431290	T	C	51431290	2	2	32	1	0	0	0	0	0	0	0	1	13123	1770	62	3		3	RBM15B	3	51431290	Silent	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	2093253	51431290	146591140	17	2295											
PRR23A	729627	hgsc.bcm.edu	37	3	138724832	138724832	+	Silent	SNP	A	A	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:138724832A>G	ENST00000383163.2	-	1	278	c.279T>C	c.(277-279)gaT>gaC	p.D93D	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	93										endometrium(3)|kidney(1)|lung(7)	11						GGGTGTGTCCATCGAGAGACA	0.642																																																0													25	25	25					3																	138724832		692	1591	2283	SO:0001819	synonymous_variant	729627				CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.279T>C	chr3.hg19:g.138724832A>G				Silent	SNP	ENST00000383163.2	hg19	CCDS46923.1																																																																																				0.642	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		G	138724832	A	G	138724832	2	3	32	1	0	0	0	0	0	0	0	1	12599	214	8	3		3	PRR23A	3	138724832	Silent	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10	87293542	138724832	59297598	18	2296											
SLITRK3	22865	hgsc.bcm.edu	37	3	164906764	164906764	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:164906764G>T	ENST00000475390.1	-	2	2298	c.1855C>A	c.(1855-1857)Cca>Aca	p.P619T	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P619T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	619					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCTCCAGCTGGTGCAACGTGC	0.567										HNSCC(40;0.11)																																						0													42	42	42					3																	164906764		2203	4300	6503	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1855C>A	chr3.hg19:g.164906764G>T	ENSP00000420091:p.Pro619Thr		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	hg19	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	4.489	0.090753	0.08632	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.54866	0.55;0.55	5.23	5.23	0.72850	.	0.211812	0.23924	N	0.043211	T	0.37073	0.0990	N	0.17082	0.46	0.30130	N	0.804861	B	0.14012	0.009	B	0.10450	0.005	T	0.26052	-1.0114	10	0.38643	T	0.18	-4.1785	13.2744	0.60180	0.0:0.2728:0.7272:0.0	.	619	O94933	SLIK3_HUMAN	T	619	ENSP00000420091:P619T;ENSP00000241274:P619T	ENSP00000241274:P619T	P	-	1	0	SLITRK3	166389458	0.975000	0.34042	0.589000	0.28718	0.655000	0.38815	2.147000	0.42226	2.871000	0.98454	0.655000	0.94253	CCA		0.567	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		T	164906764	G	T	164906764	3	4	32	1	0	0	0	0	1	0	0	0	14750	1261	44	4	1082	4	SLITRK3	3	164906764	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	26181932	164906764	33115666	19	2297											
ZBBX	79740	hgsc.bcm.edu	37	3	167086364	167086364	+	Splice_Site	SNP	T	T	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:167086364T>A	ENST00000392766.2	-	5	409		c.e5-2		ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Splice_Site|ZBBX_ENST00000392767.2_Splice_Site|ZBBX_ENST00000307529.5_Splice_Site|ZBBX_ENST00000455345.2_Splice_Site	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGAGCATTTCTGAAGACATAA	0.318																																																0													113	97	102					3																	167086364		1801	4061	5862	SO:0001630	splice_region_variant	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.69-2A>T	chr3.hg19:g.167086364T>A			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Splice_Site	SNP	ENST00000392766.2	hg19	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026562	0.35797	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000474464	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4867	0.50358	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZBBX	168569058	1.000000	0.71417	0.937000	0.37676	0.328000	0.28507	5.110000	0.64622	1.972000	0.57404	0.477000	0.44152	.		0.318	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	Intron	A	167086364	T	A	167086364	5	1	32	1	0	0	0	0	0	0	1	0	17521	1594	55	5	2403	5	ZBBX	3	167086364	Splice_Site	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	2179600	167086364	30936066	20	2298											
SEC62	7095	hgsc.bcm.edu	37	3	169701000	169701000	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:169701000C>G	ENST00000337002.4	+	5	566	c.508C>G	c.(508-510)Ctt>Gtt	p.L170V	SEC62_ENST00000480708.1_Missense_Mutation_p.L170V|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	170					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						AAAATTCAAACTTGAGCCACA	0.348																																																0													71	76	74					3																	169701000		2203	4298	6501	SO:0001583	missense	7095			D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.508C>G	chr3.hg19:g.169701000C>G	ENSP00000337688:p.Leu170Val		D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	hg19	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072916	0.93950	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	T;T	0.02421	4.3;4.3	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.00021	-1.2347	10	0.54805	T	0.06	-9.9639	20.3431	0.98773	0.0:1.0:0.0:0.0	.	170	Q99442	SEC62_HUMAN	V	170	ENSP00000337688:L170V;ENSP00000420331:L170V	ENSP00000337688:L170V	L	+	1	0	SEC62	171183694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.411000	0.66386	2.880000	0.98712	0.650000	0.86243	CTT		0.348	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			G	169701000	C	G	169701000	3	3	32	1	0	0	0	0	1	0	0	0	14010	565	20	4	526	4	SEC62	3	169701000	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	2614636	169701000	28321430	21	2299											
DVL3	1857	hgsc.bcm.edu	37	3	183887831	183887831	+	Silent	SNP	C	C	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:183887831C>T	ENST00000313143.3	+	14	1784	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	DVL3_ENST00000431765.1_Silent_p.S495S|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	512					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			ACGATGGCTCCAGTGGCGCCT	0.662																																																0													73	63	66					3																	183887831		2203	4300	6503	SO:0001819	synonymous_variant	1857			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1536C>T	chr3.hg19:g.183887831C>T			B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	ENST00000313143.3	hg19	CCDS3253.1																																																																																				0.662	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		T	183887831	C	T	183887831	2	4	32	1	0	0	0	0	0	0	0	1	4839	581	21	2		2	DVL3	3	183887831	Silent	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	14186831	183887831	14134599	22	2300											
VPS8	23355	hgsc.bcm.edu	37	3	184654055	184654055	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:184654055T>C	ENST00000437079.3	+	35	3091	c.2920T>C	c.(2920-2922)Tgt>Cgt	p.C974R	VPS8_ENST00000436792.2_Missense_Mutation_p.C972R|VPS8_ENST00000287546.4_Missense_Mutation_p.C974R|VPS8_ENST00000446204.2_Missense_Mutation_p.C882R	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	974							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CCTGAAGCCTTGTAAAGCTGC	0.413																																																0													63	60	61					3																	184654055		1870	4103	5973	SO:0001583	missense	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2920T>C	chr3.hg19:g.184654055T>C	ENSP00000397879:p.Cys974Arg		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	hg19	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	T	5.373	0.254065	0.10185	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.11	5.11	0.69529	Quinonprotein alcohol dehydrogenase-like (1);	0.373852	0.29225	N	0.012776	T	0.08492	0.0211	N	0.11427	0.14	0.54753	D	0.999988	B;B;B	0.21381	0.002;0.055;0.003	B;B;B	0.22753	0.002;0.041;0.004	T	0.27971	-1.0058	10	0.12766	T	0.61	-10.8263	9.6614	0.39958	0.1556:0.0:0.0:0.8444	.	974;882;972	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	R	974;974;972;882	ENSP00000287546:C974R;ENSP00000397879:C974R;ENSP00000404704:C972R;ENSP00000405483:C882R	ENSP00000287546:C974R	C	+	1	0	VPS8	186136749	0.826000	0.29277	0.998000	0.56505	0.560000	0.35617	1.018000	0.30002	2.265000	0.75225	0.533000	0.62120	TGT		0.413	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		C	184654055	T	C	184654055	3	2	32	1	0	0	0	0	1	0	0	0	17223	1812	63	3	3050	3	VPS8	3	184654055	Missense_Mutation	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	766224	184654055	13368375	23	2301											
MASP1	5648	hgsc.bcm.edu	37	3	186961355	186961355	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:186961355G>A	ENST00000337774.5	-	9	1534	c.1145C>T	c.(1144-1146)aCa>aTa	p.T382I	MASP1_ENST00000296280.6_Missense_Mutation_p.T382I|MASP1_ENST00000392472.2_Missense_Mutation_p.T269I|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	382	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTTGTTCCTTGTAGAGAAGGT	0.478																																																0													237	216	223					3																	186961355		2203	4300	6503	SO:0001583	missense	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1145C>T	chr3.hg19:g.186961355G>A	ENSP00000336792:p.Thr382Ile		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	hg19	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089268	0.55968	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896	T;T;T	0.64803	0.76;-0.12;-0.12	5.56	4.66	0.58398	Complement control module (2);Sushi/SCR/CCP (3);	0.308438	0.38436	N	0.001698	T	0.72078	0.3416	M	0.85462	2.755	0.80722	D	1	B;P;P	0.39964	0.139;0.697;0.48	B;P;B	0.44860	0.16;0.462;0.331	T	0.76719	-0.2856	10	0.59425	D	0.04	.	15.3089	0.74016	0.0:0.1404:0.8596:0.0	.	269;382;382	P48740-4;P48740-2;P48740	.;.;MASP1_HUMAN	I	382;382;269;269	ENSP00000336792:T382I;ENSP00000296280:T382I;ENSP00000376264:T269I	ENSP00000296280:T382I	T	-	2	0	MASP1	188444049	1.000000	0.71417	0.956000	0.39512	0.993000	0.82548	4.068000	0.57534	1.311000	0.45024	0.561000	0.74099	ACA		0.478	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		A	186961355	G	A	186961355	3	1	32	1	0	0	0	0	1	0	0	0	9324	1377	48	2	1874	2	MASP1	3	186961355	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	2307300	186961355	11061075	24	2302											
TFRC	7037	hgsc.bcm.edu	37	3	195800989	195800990	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr3:195800989_195800990insAT	ENST00000360110.4	-	4	414_415	c.245_246insAT	c.(244-246)atgfs	p.M82fs	TFRC_ENST00000420415.1_Start_Codon_Ins|RNU7-18P_ENST00000516365.1_RNA|TFRC_ENST00000540528.1_Stop_Codon_Ins|TFRC_ENST00000535031.1_Intron|TFRC_ENST00000392396.3_Frame_Shift_Ins_p.M82fs	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	82					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	AGTAGCCAATCATAAATCCTAA	0.421			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	0																																										SO:0001589	frameshift_variant	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.244_245dupAT	chr3.hg19:g.195800990_195800991dupAT	ENSP00000353224:p.Met82fs		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Frame_Shift_Ins	INS	ENST00000360110.4	hg19	CCDS3312.1																																																																																				0.421	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			AT	195800990	-	AT	195800989	7	5	32	1	0	1	1	0	0	0	0	0	15817	826	29	0	2100	0	TFRC	3	195800989	Frame_Shift_Ins	INS	-	TCGA-5P-A9K0-01A-11D-A42J-10	8839634	195800989	2221441	25	2303											
LRRC66	339977	hgsc.bcm.edu	37	4	52861896	52861896	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr4:52861896G>T	ENST00000343457.3	-	4	1298	c.1292C>A	c.(1291-1293)gCt>gAt	p.A431D		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	431						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGCCCCGCAGCTTCCATGTC	0.537																																																0													117	124	121					4																	52861896		2046	4191	6237	SO:0001583	missense	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1292C>A	chr4.hg19:g.52861896G>T	ENSP00000341944:p.Ala431Asp			Missense_Mutation	SNP	ENST00000343457.3	hg19	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596364	0.46318	.	.	ENSG00000188993	ENST00000343457	T	0.47177	0.85	4.03	1.23	0.21249	.	0.494819	0.17140	N	0.185495	T	0.49490	0.1560	L	0.43152	1.355	0.09310	N	1	D	0.69078	0.997	P	0.59221	0.854	T	0.32481	-0.9905	10	0.72032	D	0.01	-1.8392	5.792	0.18365	0.1098:0.387:0.5031:0.0	.	431	Q68CR7	LRC66_HUMAN	D	431	ENSP00000341944:A431D	ENSP00000341944:A431D	A	-	2	0	LRRC66	52556653	0.000000	0.05858	0.015000	0.15790	0.002000	0.02628	-0.287000	0.08388	0.428000	0.26173	0.467000	0.42956	GCT		0.537	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		T	52861896	G	T	52861896	3	4	32	1	0	0	0	0	1	0	0	0	9020	971	34	4	1354	4	LRRC66	4	52861896	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10		52861896	138292380	26	2304											
TECRL	253017	hgsc.bcm.edu	37	4	65274879	65274880	+	Frame_Shift_Ins	INS	-	-	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr4:65274879_65274880insT	ENST00000381210.3	-	1	300_301	c.190_191insA	c.(190-192)atafs	p.I64fs	TECRL_ENST00000507440.1_Frame_Shift_Ins_p.I64fs	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	64					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGCATCAAATATTTCAATCTCA	0.347																																																0																																										SO:0001589	frameshift_variant	253017			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.191dupA	chr4.hg19:g.65274882_65274882dupT	ENSP00000370607:p.Ile64fs			Frame_Shift_Ins	INS	ENST00000381210.3	hg19	CCDS33990.1																																																																																				0.347	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		T	65274880	-	T	65274879	7	5	32	1	0	1	1	0	0	0	0	0	15751	449	16	0	948	0	TECRL	4	65274879	Frame_Shift_Ins	INS	-	TCGA-5P-A9K0-01A-11D-A42J-10	12412983	65274879	125879397	27	2305											
EPHA5	2044	hgsc.bcm.edu	37	4	66230803	66230803	+	Frame_Shift_Del	DEL	C	C	-	rs374393697		TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr4:66230803delC	ENST00000273854.3	-	12	2768	c.2168delG	c.(2167-2169)ggtfs	p.G723fs	EPHA5_ENST00000354839.4_Frame_Shift_Del_p.G701fs|EPHA5_ENST00000432638.2_Frame_Shift_Del_p.G560fs|EPHA5_ENST00000511294.1_Frame_Shift_Del_p.G724fs	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	723	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACTTGCTTCACCTAGGAAATC	0.393										TSP Lung(17;0.13)																																						0													235	224	228					4																	66230803		2203	4300	6503	SO:0001589	frameshift_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2168delG	chr4.hg19:g.66230803delC	ENSP00000273854:p.Gly723fs		Q7Z3F2	Frame_Shift_Del	DEL	ENST00000273854.3	hg19	CCDS3513.1																																																																																				0.393	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		-	66230803	C	-	66230803	7	5	32	1	0	1	0	1	0	0	0	0	5172	507	18	0	973	0	EPHA5	4	66230803	Frame_Shift_Del	DEL	C	TCGA-5P-A9K0-01A-11D-A42J-10	955924	66230803	124923473	28	2306	27	3									
EPHA5	2044	hgsc.bcm.edu	37	4	66230804	66230806	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	CTA	CTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr4:66230804_66230806delCTA	ENST00000273854.3	-	12	2765_2767	c.2165_2167delTAG	c.(2164-2169)ctaggt>cgt	p.722_723LG>R	EPHA5_ENST00000354839.4_In_Frame_Del_p.700_701LG>R|EPHA5_ENST00000432638.2_In_Frame_Del_p.559_560LG>R|EPHA5_ENST00000511294.1_In_Frame_Del_p.723_724LG>R	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	722	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTGCTTCACCTAGGAAATCTCT	0.389										TSP Lung(17;0.13)																																						0																																										SO:0001651	inframe_deletion	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2165_2167delTAG	chr4.hg19:g.66230804_66230806delCTA	ENSP00000273854:p.Leu722_Gly723delinsArg		Q7Z3F2	In_Frame_Del	DEL	ENST00000273854.3	hg19	CCDS3513.1																																																																																				0.389	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		-	66230806	CTA	-	66230804	7	5	32	1	0	1	0	1	0	0	0	0	5172	681	24	0	974	0	EPHA5	4	66230804	In_Frame_Del	DEL	CTA	TCGA-5P-A9K0-01A-11D-A42J-10	1	66230804	124923472	29	2307	27	3									
EPHA5	2044	hgsc.bcm.edu	37	4	66230806	66230806	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr4:66230806A>T	ENST00000273854.3	-	12	2765	c.2165T>A	c.(2164-2166)cTa>cAa	p.L722Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.L700Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.L559Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.L723Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	722	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCTTCACCTAGGAAATCTCT	0.388										TSP Lung(17;0.13)																																						0													231	221	224					4																	66230806		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2165T>A	chr4.hg19:g.66230806A>T	ENSP00000273854:p.Leu722Gln		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	hg19	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663442	0.88251	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.76	5.76	0.90799	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000384	D	0.91891	0.7433	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D	0.89917	0.993;1.0;0.992;0.998	D;D;D;D	0.72625	0.95;0.978;0.917;0.935	D	0.92786	0.6244	10	0.87932	D	0	.	16.0723	0.80943	1.0:0.0:0.0:0.0	.	701;723;700;722	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	722;559;700;723	ENSP00000273854:L722Q;ENSP00000389208:L559Q;ENSP00000346899:L700Q;ENSP00000427638:L723Q	ENSP00000273854:L722Q	L	-	2	0	EPHA5	65913401	1.000000	0.71417	0.992000	0.48379	0.953000	0.61014	9.297000	0.96120	2.199000	0.70637	0.528000	0.53228	CTA		0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		T	66230806	A	T	66230806	3	4	32	1	0	0	0	0	1	0	0	0	5172	420	15	5	976	5	EPHA5	4	66230806	Missense_Mutation	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10	2	66230806	124923470	30	2308	27	3									
SLC9A3	6550	hgsc.bcm.edu	37	5	483552	483552	+	Silent	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr5:483552G>A	ENST00000264938.3	-	6	987	c.978C>T	c.(976-978)aaC>aaT	p.N326N	CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.N326N|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	326					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCTCCGAGATGTTGGCCTTCA	0.622																																																0													47	34	38					5																	483552		2195	4296	6491	SO:0001819	synonymous_variant	6550				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.978C>T	chr5.hg19:g.483552G>A			B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	hg19	CCDS3855.1																																																																																				0.622	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		A	483552	G	A	483552	2	1	32	1	0	0	0	0	0	0	0	1	14719	1368	48	2		2	SLC9A3	5	483552	Silent	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10		483552	180431708	31	2309											
C5orf42	65250	hgsc.bcm.edu	37	5	37226992	37226993	+	Missense_Mutation	DNP	GT	GT	TC			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr5:37226992_37226993GT>TC	ENST00000508244.1	-	11	1797_1798	c.1704_1705AC>GA	c.(1702-1707)gaACtg>gaGAtg	p.L569M	C5orf42_ENST00000274258.7_De_novo_Start_InFrame|C5orf42_ENST00000425232.2_Missense_Mutation_p.L569M			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	569						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATAGAATGCAGTTCTGTAATGG	0.337																																																0																																										SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.1704_1705delinsTC	chr5.hg19:g.37226992_37226993delinsTC	ENSP00000421690:p.Leu569Met		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation|Silent	SNP	ENST00000508244.1	hg19	CCDS34146.2																																																																																				0.337	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		TC	37226993	GT	TC	37226992	3	4	32	1	0	0	0	0	1	0	0	0	2303	1020	36	4	8052	4	C5orf42	5	37226992	Missense_Mutation	DNP	GT	TCGA-5P-A9K0-01A-11D-A42J-10	36743440	37226992	143688268	32	2310											
ANKRD55	79722	hgsc.bcm.edu	37	5	55439741	55439741	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr5:55439741G>A	ENST00000341048.4	-	7	650	c.499C>T	c.(499-501)Cac>Tac	p.H167Y	ANKRD55_ENST00000504958.2_Intron|ANKRD55_ENST00000513241.2_Missense_Mutation_p.H138Y|RNA5SP184_ENST00000411071.1_RNA|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	167										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GCCGCCCAGTGGAGTGGTGTC	0.532																																																0													220	219	219					5																	55439741		2203	4300	6503	SO:0001583	missense	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.499C>T	chr5.hg19:g.55439741G>A	ENSP00000342295:p.His167Tyr		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	hg19	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743502	0.69418	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000513241	D;D	0.87179	-2.22;-2.22	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.94128	0.8117	M	0.84948	2.725	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.93582	0.6913	10	0.41790	T	0.15	.	18.7597	0.91845	0.0:0.0:1.0:0.0	.	167	B3KVT8	.	Y	167;167;138	ENSP00000342295:H167Y;ENSP00000423507:H138Y	ENSP00000342295:H167Y	H	-	1	0	ANKRD55	55475498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.934000	0.87649	2.518000	0.84900	0.650000	0.86243	CAC		0.532	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		A	55439741	G	A	55439741	3	1	32	1	0	0	0	0	1	0	0	0	681	1348	47	2	1369	2	ANKRD55	5	55439741	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	18212749	55439741	125475519	33	2311											
CDC23	8697	hgsc.bcm.edu	37	5	137527594	137527594	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr5:137527594C>G	ENST00000394886.2	-	12	1349	c.1319G>C	c.(1318-1320)gGa>gCa	p.G440A		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	440					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTAACATTCTCCTAAAGCAAC	0.408																																																0													121	120	120					5																	137527594		2203	4300	6503	SO:0001583	missense	8697			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1319G>C	chr5.hg19:g.137527594C>G	ENSP00000378350:p.Gly440Ala		A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	hg19	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563709	0.86335	.	.	ENSG00000094880	ENST00000394886	T	0.79653	-1.29	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	M	0.72353	2.195	0.80722	D	1	D	0.55800	0.973	D	0.67382	0.951	D	0.86877	0.2039	10	0.38643	T	0.18	-13.154	20.275	0.98485	0.0:1.0:0.0:0.0	.	440	Q9UJX2	CDC23_HUMAN	A	440	ENSP00000378350:G440A	ENSP00000378350:G440A	G	-	2	0	CDC23	137555493	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.711000	0.68400	2.800000	0.96347	0.455000	0.32223	GGA		0.408	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			G	137527594	C	G	137527594	3	3	32	1	0	0	0	0	1	0	0	0	3063	855	30	4	494	4	CDC23	5	137527594	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	82087853	137527594	43387666	34	2312											
C6orf145	221749	hgsc.bcm.edu	37	6	3723879	3723879	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr6:3723879G>T	ENST00000380283.4	-	5	1164	c.670C>A	c.(670-672)Ccc>Acc	p.P224T	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	224							phosphatidylinositol binding (GO:0035091)										GTCTCGAAGGGGACCAGGTGG	0.557																																																0													180	151	161					6																	3723879		2203	4300	6503	SO:0001583	missense	221749			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 145"	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.670C>A	chr6.hg19:g.3723879G>T	ENSP00000369636:p.Pro224Thr		A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	hg19	CCDS4486.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687792	0.88639	.	.	ENSG00000168994	ENST00000380283	T	0.50001	0.76	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69423	-0.5149	9	0.72032	D	0.01	-31.499	18.5146	0.90931	0.0:0.0:1.0:0.0	.	224	Q5TGL8	CF145_HUMAN	T	224	ENSP00000369636:P224T	ENSP00000369636:P224T	P	-	1	0	C6orf145	3668878	1.000000	0.71417	0.898000	0.35279	0.956000	0.61745	8.431000	0.90285	2.662000	0.90505	0.555000	0.69702	CCC		0.557	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373		T	3723879	G	T	3723879	3	4	32	1	0	0	0	0	1	0	0	0	2336	1232	43	4	29	4	C6orf145	6	3723879	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10		3723879	167391188	35	2313											
NHLRC1	378884	hgsc.bcm.edu	37	6	18121925	18121925	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr6:18121925C>T	ENST00000340650.3	-	1	926	c.913G>A	c.(913-915)Ggc>Agc	p.G305S		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	305					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TCCACTTGGCCGACAAGCTGC	0.557																																																0													67	64	65					6																	18121925		2203	4300	6503	SO:0001583	missense	378884			AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"epilepsy, progressive myoclonus type 2B"	608072	"NHL repeat containing 1"			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.913G>A	chr6.hg19:g.18121925C>T	ENSP00000345464:p.Gly305Ser		Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	hg19	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	1.321	-0.599467	0.03744	.	.	ENSG00000187566	ENST00000340650	D	0.97114	-4.25	5.67	0.632	0.17705	Six-bladed beta-propeller, TolB-like (1);	0.324151	0.34088	N	0.004275	D	0.89567	0.6752	M	0.71581	2.175	0.24490	N	0.994308	B	0.20671	0.047	B	0.13407	0.009	T	0.80946	-0.1155	10	0.22109	T	0.4	-14.9657	5.8977	0.18949	0.0:0.5163:0.1219:0.3618	.	305	Q6VVB1	NHLC1_HUMAN	S	305	ENSP00000345464:G305S	ENSP00000345464:G305S	G	-	1	0	NHLRC1	18229904	0.001000	0.12720	0.219000	0.23793	0.057000	0.15508	-0.025000	0.12413	-0.195000	0.10382	-0.794000	0.03295	GGC		0.557	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			T	18121925	C	T	18121925	3	4	32	1	0	0	0	0	1	0	0	0	10407	652	23	1	278	1	NHLRC1	6	18121925	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	14398046	18121925	152993142	36	2314											
ABT1	29777	hgsc.bcm.edu	37	6	26597296	26597296	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr6:26597296A>C	ENST00000274849.1	+	1	117	c.86A>C	c.(85-87)cAg>cCg	p.Q29P		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	29					regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GAGGAGGAGCAGGAGGAATCC	0.607																																																0													75	84	81					6																	26597296		2203	4300	6503	SO:0001583	missense	29777			AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.86A>C	chr6.hg19:g.26597296A>C	ENSP00000274849:p.Gln29Pro			Missense_Mutation	SNP	ENST00000274849.1	hg19	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.421177	0.42918	.	.	ENSG00000146109	ENST00000274849	.	.	.	4.27	3.09	0.35607	.	0.579965	0.17698	N	0.165036	T	0.11537	0.0281	N	0.25647	0.755	0.24539	N	0.994079	B	0.02656	0.0	B	0.01281	0.0	T	0.21008	-1.0258	9	0.29301	T	0.29	-11.7293	8.6559	0.34062	0.6171:0.3829:0.0:0.0	.	29	Q9ULW3	ABT1_HUMAN	P	29	.	ENSP00000274849:Q29P	Q	+	2	0	ABT1	26705275	0.002000	0.14202	0.989000	0.46669	0.697000	0.40408	-0.309000	0.08145	0.959000	0.37980	-0.313000	0.08912	CAG		0.607	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1			C	26597296	A	C	26597296	3	2	32	1	0	0	0	0	1	0	0	0	101	188	7	5	88	5	ABT1	6	26597296	Missense_Mutation	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10	8475371	26597296	144517771	37	2315											
PGC	5225	hgsc.bcm.edu	37	6	41704737	41704737	+	Silent	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr6:41704737G>A	ENST00000373025.3	-	9	1082	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	RP11-298J23.5_ENST00000438967.1_RNA|TFEB_ENST00000230323.4_5'Flank|TFEB_ENST00000420312.1_5'Flank|TFEB_ENST00000373033.1_5'Flank|TFEB_ENST00000358871.2_5'Flank|TFEB_ENST00000403298.4_5'Flank	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	340					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TGCAGTAGCCGTTGTTCTGCT	0.587																																																0													53	52	52					6																	41704737		2203	4300	6503	SO:0001819	synonymous_variant	5225				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.1020C>T	chr6.hg19:g.41704737G>A			B4DVZ3|Q5T3D7|Q5T3D8	Silent	SNP	ENST00000373025.3	hg19	CCDS4859.1																																																																																				0.587	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			A	41704737	G	A	41704737	2	1	32	1	0	0	0	0	0	0	0	1	11787	1136	40	1		1	PGC	6	41704737	Silent	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	15107441	41704737	129410330	38	2316											
FAM184A	79632	hgsc.bcm.edu	37	6	119345322	119345322	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr6:119345322delA	ENST00000338891.7	-	2	1259	c.816delT	c.(814-816)tttfs	p.F272fs	FAM184A_ENST00000368475.4_Frame_Shift_Del_p.F152fs|FAM184A_ENST00000352896.5_Frame_Shift_Del_p.F152fs|FAM184A_ENST00000522284.1_Frame_Shift_Del_p.F152fs|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Frame_Shift_Del_p.F272fs	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	272						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTTCTGCTGTAAAAAGCTGTG	0.358																																																0													85	79	81					6																	119345322		1824	4081	5905	SO:0001589	frameshift_variant	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.816delT	chr6.hg19:g.119345322delA	ENSP00000342604:p.Phe272fs		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Frame_Shift_Del	DEL	ENST00000338891.7	hg19	CCDS43499.1																																																																																				0.358	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		-	119345322	A	-	119345322	7	5	32	1	0	1	0	1	0	0	0	0	5513	359	13	0	2674	0	FAM184A	6	119345322	Frame_Shift_Del	DEL	A	TCGA-5P-A9K0-01A-11D-A42J-10	77640585	119345322	51769745	39	2317											
HEBP2	23593	hgsc.bcm.edu	37	6	138727155	138727155	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr6:138727155G>T	ENST00000607197.1	+	3	563	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C	HEBP2_ENST00000448741.1_Missense_Mutation_p.G107C|HEBP2_ENST00000367697.3_Missense_Mutation_p.G96C	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	96					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		CGTGGAGCCTGGTTCAGGTCC	0.393																																																0													136	126	129					6																	138727155		2203	4300	6503	SO:0001583	missense	23593			AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"chromosome 6 open reading frame 34"	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.286G>T	chr6.hg19:g.138727155G>T	ENSP00000475750:p.Gly96Cys		Q96P57	Missense_Mutation	SNP	ENST00000607197.1	hg19	CCDS5191.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291247	0.23564	.	.	ENSG00000051620	ENST00000448741;ENST00000058691;ENST00000367697	T;T;T	0.22539	1.95;1.95;1.95	5.55	5.55	0.83447	Regulatory factor, effector, bacterial (1);	0.142267	0.64402	D	0.000005	T	0.44685	0.1305	M	0.86268	2.805	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.46512	-0.9186	10	0.56958	D	0.05	.	16.3966	0.83607	0.0:0.0:1.0:0.0	.	96	Q9Y5Z4	HEBP2_HUMAN	C	107;96;96	ENSP00000392101:G107C;ENSP00000058691:G96C;ENSP00000356670:G96C	ENSP00000058691:G96C	G	+	1	0	HEBP2	138768848	1.000000	0.71417	0.140000	0.22221	0.541000	0.35023	6.709000	0.74665	2.615000	0.88500	0.491000	0.48974	GGT		0.393	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2			T	138727155	G	T	138727155	3	4	32	1	0	0	0	0	1	0	0	0	7039	1348	47	4	296	4	HEBP2	6	138727155	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	19381833	138727155	32387912	40	2318											
IQCE	23288	hgsc.bcm.edu	37	7	2617955	2617955	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr7:2617955A>T	ENST00000402050.2	+	7	729	c.545A>T	c.(544-546)gAc>gTc	p.D182V	IQCE_ENST00000438376.2_Missense_Mutation_p.D166V|IQCE_ENST00000404984.1_Missense_Mutation_p.D131V|IQCE_ENST00000325979.7_Missense_Mutation_p.D117V	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	182						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AGCAGGAAGGACCGGCAGATA	0.622																																																0													59	68	65					7																	2617955		2086	4217	6303	SO:0001583	missense	23288			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.545A>T	chr7.hg19:g.2617955A>T	ENSP00000385597:p.Asp182Val		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	hg19	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107831	0.77096	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82	5.5	4.33	0.51752	.	0.050251	0.85682	D	0.000000	T	0.30823	0.0777	M	0.75264	2.295	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.997;0.999;0.999	T	0.01488	-1.1342	10	0.52906	T	0.07	-18.5907	11.0308	0.47772	0.8605:0.0:0.0:0.1395	.	117;166;117;182;182;166	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	V	182;131;218;166;117;117;117	ENSP00000385597:D182V;ENSP00000385945:D131V;ENSP00000404643:D218V;ENSP00000396178:D166V;ENSP00000313772:D117V;ENSP00000413570:D117V	ENSP00000313772:D117V	D	+	2	0	IQCE	2584481	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	6.359000	0.73060	0.893000	0.36288	0.460000	0.39030	GAC		0.622	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		T	2617955	A	T	2617955	3	4	32	1	0	0	0	0	1	0	0	0	7808	275	10	5	571	5	IQCE	7	2617955	Missense_Mutation	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10		2617955	156520708	41	2319											
KIAA1429	25962	hgsc.bcm.edu	37	8	95539042	95539042	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr8:95539042A>C	ENST00000297591.5	-	8	1505	c.1430T>G	c.(1429-1431)cTg>cGg	p.L477R	KIAA1429_ENST00000437199.1_Missense_Mutation_p.L477R|KIAA1429_ENST00000421249.2_Missense_Mutation_p.L477R	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	477					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGCTTGTAGCAGTCCTGTAAC	0.443																																																0													98	96	96					8																	95539042		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1430T>G	chr8.hg19:g.95539042A>C	ENSP00000297591:p.Leu477Arg		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	hg19	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736385	0.49045	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.57595	0.4;0.41;0.39	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.73600	-0.3931	10	0.87932	D	0	-6.7927	16.2285	0.82315	1.0:0.0:0.0:0.0	.	477;477	Q69YN4-4;Q69YN4	.;VIR_HUMAN	R	477	ENSP00000297591:L477R;ENSP00000395600:L477R;ENSP00000398390:L477R	ENSP00000297591:L477R	L	-	2	0	KIAA1429	95608218	1.000000	0.71417	0.930000	0.37139	0.300000	0.27592	8.962000	0.93254	2.235000	0.73313	0.460000	0.39030	CTG		0.443	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		C	95539042	A	C	95539042	3	2	32	1	0	0	0	0	1	0	0	0	8233	188	7	5	4130	5	KIAA1429	8	95539042	Missense_Mutation	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10		95539042	50824980	42	2320											
C9orf93	203238	hgsc.bcm.edu	37	9	15666301	15666301	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr9:15666301G>C	ENST00000380701.3	+	9	1384	c.1056G>C	c.(1054-1056)gaG>gaC	p.E352D	CCDC171_ENST00000297641.3_Missense_Mutation_p.E352D	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	352	Glu-rich.																ATGCACAAGAGAGCTTTGCAA	0.294																																																0													51	52	52					9																	15666301		2203	4300	6503	SO:0001583	missense	203238			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1056G>C	chr9.hg19:g.15666301G>C	ENSP00000370077:p.Glu352Asp		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	hg19	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421902	0.62622	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.14893	2.47;2.47	4.98	4.08	0.47627	.	0.323937	0.32357	N	0.006202	T	0.22898	0.0553	L	0.27053	0.805	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.99	P;P;P	0.60789	0.879;0.831;0.717	T	0.02226	-1.1192	10	0.21540	T	0.41	-13.6304	13.1746	0.59619	0.0778:0.0:0.9222:0.0	.	352;352;352	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	D	352	ENSP00000297641:E352D;ENSP00000370077:E352D	ENSP00000297641:E352D	E	+	3	2	C9orf93	15656301	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	0.815000	0.27253	1.217000	0.43442	0.591000	0.81541	GAG		0.294	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		C	15666301	G	C	15666301	3	2	32	1	0	0	0	0	1	0	0	0	2508	933	33	4	1086	4	C9orf93	9	15666301	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10		15666301	125547130	43	2321											
EGFL7	51162	hgsc.bcm.edu	37	9	139566407	139566407	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr9:139566407C>A	ENST00000371699.1	+	9	1577	c.666C>A	c.(664-666)caC>caA	p.H222Q	MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Missense_Mutation_p.H222Q|EGFL7_ENST00000308874.7_Missense_Mutation_p.H222Q|EGFL7_ENST00000371698.3_Missense_Mutation_p.H222Q|EGFL7_ENST00000492002.1_3'UTR			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	222					angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CCCCACTGCACAGCCTGGCCT	0.706											OREG0019619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													6	7	7					9																	139566407		1851	3602	5453	SO:0001583	missense	51162			AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.666C>A	chr9.hg19:g.139566407C>A	ENSP00000360764:p.His222Gln	1649	B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	ENST00000371699.1	hg19	CCDS7002.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276313	0.40294	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.15	1.18	0.20946	.	0.475986	0.22547	N	0.058656	T	0.66597	0.2805	L	0.32530	0.975	0.31471	N	0.668321	B	0.29988	0.264	B	0.23150	0.044	T	0.57871	-0.7736	10	0.20519	T	0.43	-26.4872	4.9643	0.14082	0.0:0.5813:0.1503:0.2684	.	222	Q9UHF1	EGFL7_HUMAN	Q	222	ENSP00000360764:H222Q;ENSP00000307843:H222Q;ENSP00000385639:H222Q;ENSP00000360763:H222Q	ENSP00000307843:H222Q	H	+	3	2	EGFL7	138686228	0.647000	0.27304	1.000000	0.80357	0.832000	0.47134	-0.224000	0.09164	0.236000	0.21180	0.561000	0.74099	CAC		0.706	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		A	139566407	C	A	139566407	3	1	32	1	0	0	0	0	1	0	0	0	4966	477	17	4	692	4	EGFL7	9	139566407	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	123900106	139566407	1647024	44	2322											
C10orf27	219793	hgsc.bcm.edu	37	10	72534001	72534001	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr10:72534001T>G	ENST00000299290.1	-	9	1274	c.885A>C	c.(883-885)gaA>gaC	p.E295D	TBATA_ENST00000394982.2_5'Flank|TBATA_ENST00000456372.2_3'UTR	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	295					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											CTTGAGGAGGTTCATGCACTT	0.622																																																0													70	67	68					10																	72534001		2203	4300	6503	SO:0001583	missense	219793			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"chromosome 10 open reading frame 27"	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.885A>C	chr10.hg19:g.72534001T>G	ENSP00000299290:p.Glu295Asp		A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	hg19	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	T	8.123	0.781331	0.16120	.	.	ENSG00000166220	ENST00000299290	T	0.45668	0.89	4.19	-8.38	0.00973	.	1.349240	0.04739	N	0.422520	T	0.20210	0.0486	L	0.31207	0.915	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.16453	-1.0402	10	0.16420	T	0.52	-0.0633	0.5239	0.00616	0.3677:0.2095:0.2498:0.173	.	294;296;295	B7ZMN4;B7ZMN5;Q96M53	.;.;SPATL_HUMAN	D	295	ENSP00000299290:E295D	ENSP00000299290:E295D	E	-	3	2	C10orf27	72204007	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-3.090000	0.00609	-1.149000	0.02843	0.482000	0.46254	GAA		0.622	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		G	72534001	T	G	72534001	3	3	32	1	0	0	0	0	1	0	0	0	1602	1722	60	5	182	5	C10orf27	10	72534001	Missense_Mutation	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10		72534001	63000746	45	2323											
MINPP1	9562	hgsc.bcm.edu	37	10	89311958	89311958	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr10:89311958A>G	ENST00000371996.4	+	5	1228	c.1187A>G	c.(1186-1188)aAa>aGa	p.K396R	MINPP1_ENST00000536010.1_Missense_Mutation_p.K195R|MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000472891.1_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	396					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TACAATTACAAAAAACAAATG	0.433																																																0													132	124	127					10																	89311958		2203	4300	6503	SO:0001583	missense	9562			AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"multiple inositol polyphosphate histidine phosphatase, 1"			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1187A>G	chr10.hg19:g.89311958A>G	ENSP00000361064:p.Lys396Arg		F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	hg19	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	A	8.904	0.957056	0.18507	.	.	ENSG00000107789	ENST00000371996;ENST00000546140;ENST00000536010	T;T	0.76448	-1.02;-1.02	6.08	4.94	0.65067	.	0.679605	0.15713	N	0.248324	T	0.59074	0.2167	N	0.25890	0.77	0.22866	N	0.998632	B	0.06786	0.001	B	0.14578	0.011	T	0.38779	-0.9645	10	0.15499	T	0.54	-10.4064	2.702	0.05152	0.5775:0.1255:0.0718:0.2253	.	396	Q9UNW1	MINP1_HUMAN	R	396;255;195	ENSP00000361064:K396R;ENSP00000437823:K195R	ENSP00000361064:K396R	K	+	2	0	MINPP1	89301938	0.010000	0.17322	0.995000	0.50966	0.760000	0.43138	2.185000	0.42584	2.333000	0.79357	0.482000	0.46254	AAA		0.433	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			G	89311958	A	G	89311958	3	3	32	1	0	0	0	0	1	0	0	0	9590	14	1	3	1243	3	MINPP1	10	89311958	Missense_Mutation	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10	16777957	89311958	46222789	46	2324											
FAM160B1	57700	hgsc.bcm.edu	37	10	116615097	116615097	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr10:116615097C>A	ENST00000369248.4	+	14	2280	c.1945C>A	c.(1945-1947)Cag>Aag	p.Q649K	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Q649K	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	649										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						AATTCTTGATCAGGTAATACA	0.318																																																0													61	63	62					10																	116615097		2203	4300	6503	SO:0001583	missense	57700			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1945C>A	chr10.hg19:g.116615097C>A	ENSP00000358251:p.Gln649Lys		Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	hg19	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231626	0.95207	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.62498	0.02;0.02	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.74318	-0.3704	10	0.26408	T	0.33	-21.742	20.1076	0.97898	0.0:1.0:0.0:0.0	.	649;649	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	K	649	ENSP00000358251:Q649K;ENSP00000358253:Q649K	ENSP00000358251:Q649K	Q	+	1	0	FAM160B1	116605087	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.612000	0.82975	2.823000	0.97156	0.650000	0.86243	CAG		0.318	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		A	116615097	C	A	116615097	3	1	32	1	0	0	0	0	1	0	0	0	5472	827	29	4	1999	4	FAM160B1	10	116615097	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	27303139	116615097	18919650	47	2325											
NANOS1	340719	hgsc.bcm.edu	37	10	120789990	120789990	+	Missense_Mutation	SNP	T	T	A	rs137998752		TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr10:120789990T>A	ENST00000425699.1	+	1	763	c.677T>A	c.(676-678)cTc>cAc	p.L226H		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	226					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		GCGATGGCGCTCTACACCACC	0.721																																																0													25	21	22					10																	120789990		2130	4209	6339	SO:0001583	missense	340719			AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141	ENST00000425699.1:c.677T>A	chr10.hg19:g.120789990T>A	ENSP00000393275:p.Leu226His			Missense_Mutation	SNP	ENST00000425699.1	hg19	CCDS7607.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131880	0.56828	.	.	ENSG00000188613	ENST00000425699;ENST00000340087	T;T	0.46451	0.87;0.87	5.08	5.08	0.68730	Zinc finger, nanos-type (2);	0.090635	0.46145	D	0.000318	T	0.47838	0.1467	N	0.17474	0.49	0.53688	D	0.999973	D	0.65815	0.995	D	0.69824	0.966	T	0.53330	-0.8454	10	0.56958	D	0.05	-16.2297	14.4916	0.67654	0.0:0.0:0.0:1.0	.	226	Q8WY41	NANO1_HUMAN	H	226;18	ENSP00000393275:L226H;ENSP00000345924:L18H	ENSP00000345924:L18H	L	+	2	0	NANOS1	120779980	1.000000	0.71417	0.998000	0.56505	0.377000	0.30045	5.891000	0.69782	1.902000	0.55061	0.402000	0.26972	CTC		0.721	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1			A	120789990	T	A	120789990	3	1	32	1	0	0	0	0	1	0	0	0	10153	1551	54	5	679	5	NANOS1	10	120789990	Missense_Mutation	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	4174893	120789990	14744757	48	2326											
KNDC1	85442	hgsc.bcm.edu	37	10	135013101	135013101	+	Silent	SNP	C	C	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr10:135013101C>T	ENST00000304613.3	+	15	2919	c.2898C>T	c.(2896-2898)tcC>tcT	p.S966S	KNDC1_ENST00000368571.2_Silent_p.S901S|KNDC1_ENST00000368572.2_Silent_p.S968S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	966					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGTCACCCTCCCCAAGGTGGG	0.627																																																0													91	88	89					10																	135013101		2203	4300	6503	SO:0001819	synonymous_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2898C>T	chr10.hg19:g.135013101C>T			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	hg19	CCDS7674.1																																																																																				0.627	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		T	135013101	C	T	135013101	2	4	32	1	0	0	0	0	0	0	0	1	8428	610	22	2		2	KNDC1	10	135013101	Silent	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	14223111	135013101	521646	49	2327											
FAM160A2	84067	hgsc.bcm.edu	37	11	6238643	6238643	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr11:6238643G>T	ENST00000449352.2	-	9	2436	c.2173C>A	c.(2173-2175)Cct>Act	p.P725T	FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Missense_Mutation_p.P739T|FAM160A2_ENST00000524416.1_Missense_Mutation_p.P725T			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	725					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCCGCAAAGGGCTGCTGAGG	0.587																																																0													55	56	56					11																	6238643		2201	4296	6497	SO:0001583	missense	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2173C>A	chr11.hg19:g.6238643G>T	ENSP00000416918:p.Pro725Thr		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	hg19	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271449	0.59649	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.71817	-0.6;-0.6;-0.6	5.11	5.11	0.69529	.	0.102616	0.64402	D	0.000002	T	0.80221	0.4583	L	0.57536	1.79	0.36080	D	0.842696	D;D;D	0.76494	0.999;0.983;0.965	D;P;P	0.78314	0.991;0.637;0.719	T	0.80254	-0.1459	10	0.25751	T	0.34	-25.4407	15.3805	0.74651	0.0:0.0:1.0:0.0	.	725;725;739	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	T	725;650;739;725	ENSP00000416918:P725T;ENSP00000265978:P739T;ENSP00000431773:P725T	ENSP00000265978:P739T	P	-	1	0	FAM160A2	6195219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.027000	0.76463	2.663000	0.90544	0.561000	0.74099	CCT		0.587	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		T	6238643	G	T	6238643	3	4	32	1	0	0	0	0	1	0	0	0	5471	1232	43	4	761	4	FAM160A2	11	6238643	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10		6238643	128767873	50	2328											
NRXN2	9379	hgsc.bcm.edu	37	11	64410176	64410176	+	Intron	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr11:64410176G>A	ENST00000377551.1	-	16	3615				NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000301894.2_Silent_p.L34L|NRXN2_ENST00000377559.3_Intron			Q9P2S2	NRX2A_HUMAN	neurexin 2						adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						aacagcggcagcagAggtggc	0.786																																																0													8	9	9					11																	64410176		2086	4108	6194	SO:0001627	intron_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3403+5514C>T	chr11.hg19:g.64410176G>A			A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	hg19	CCDS8077.1																																																																																				0.786	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		A	64410176	G	A	64410176	1	1	32	0	1	0	0	0	0	0	0	0	10668	962	34	2		2	NRXN2	11	64410176	Intron	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	58171533	64410176	70596340	51	2329											
C1RL	51279	hgsc.bcm.edu	37	12	7261763	7261763	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr12:7261763C>T	ENST00000266542.4	-	1	106	c.14G>A	c.(13-15)aGa>aAa	p.R5K	C1RL-AS1_ENST00000536679.1_RNA|C1RL_ENST00000545280.1_Missense_Mutation_p.R5K|C1RL_ENST00000545337.1_Missense_Mutation_p.R5K|C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000544702.1_Missense_Mutation_p.R5K|C1RL-AS1_ENST00000382215.3_RNA|C1RL-AS1_ENST00000435921.2_RNA	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	5					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						CCCCCACACTCTGGGTCCAGG	0.602											OREG0021648	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													40	33	35					12																	7261763		2203	4300	6503	SO:0001583	missense	51279			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.14G>A	chr12.hg19:g.7261763C>T	ENSP00000266542:p.Arg5Lys	640	Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	hg19	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	C	9.654	1.142312	0.21205	.	.	ENSG00000139178	ENST00000545280;ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	D;T;T;T	0.86694	-2.16;1.37;1.94;1.64	3.69	0.697	0.18081	.	0.188541	0.27023	N	0.021317	T	0.75451	0.3851	L	0.29908	0.895	0.09310	N	1	B;B;B	0.19331	0.035;0.035;0.002	B;B;B	0.17098	0.017;0.017;0.003	T	0.60606	-0.7230	10	0.32370	T	0.25	.	6.2753	0.20977	0.0:0.491:0.4009:0.1081	.	5;5;5	F5GWF3;F5H7C8;Q9NZP8	.;.;C1RL_HUMAN	K	5	ENSP00000266542:R5K;ENSP00000441885:R5K;ENSP00000437398:R5K;ENSP00000442611:R5K	ENSP00000266542:R5K	R	-	2	0	C1RL	7153039	0.000000	0.05858	0.017000	0.16124	0.149000	0.21700	-0.454000	0.06770	0.143000	0.18926	0.400000	0.26472	AGA		0.602	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		T	7261763	C	T	7261763	3	4	32	1	0	0	0	0	1	0	0	0	1975	913	32	2	1473	2	C1RL	12	7261763	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10		7261763	126590132	52	2330											
COL2A1	1280	hgsc.bcm.edu	37	12	48379569	48379569	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr12:48379569G>C	ENST00000380518.3	-	25	1786	c.1622C>G	c.(1621-1623)cCc>cGc	p.P541R	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P472R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	541	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGCTCCCTTGGGGCCAGCAAG	0.632																																																0													44	45	45					12																	48379569		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1622C>G	chr12.hg19:g.48379569G>C	ENSP00000369889:p.Pro541Arg		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	hg19	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964237	0.74131	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.98684	-5.07;-5.07	5.48	4.58	0.56647	.	0.064020	0.64402	D	0.000007	D	0.98670	0.9554	M	0.62209	1.925	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.79784	0.993;0.985	D	0.98492	1.0610	10	0.62326	D	0.03	.	12.6214	0.56605	0.0814:0.0:0.9186:0.0	.	472;541	P02458-1;P02458	.;CO2A1_HUMAN	R	541;472;472	ENSP00000369889:P541R;ENSP00000338213:P472R	ENSP00000338213:P472R	P	-	2	0	COL2A1	46665836	1.000000	0.71417	0.998000	0.56505	0.711000	0.40976	6.740000	0.74832	2.572000	0.86782	0.609000	0.83330	CCC		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		C	48379569	G	C	48379569	3	2	32	1	0	0	0	0	1	0	0	0	3689	1232	43	4	2961	4	COL2A1	12	48379569	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	41117806	48379569	85472326	53	2331											
FAM71C	196472	hgsc.bcm.edu	37	12	100042138	100042138	+	Silent	SNP	G	G	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr12:100042138G>T	ENST00000324341.1	+	1	608	c.186G>T	c.(184-186)gtG>gtT	p.V62V	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	62										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TGATTGACGTGCACAACCGTG	0.522																																																0													151	129	136					12																	100042138		2203	4300	6503	SO:0001819	synonymous_variant	196472				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.186G>T	chr12.hg19:g.100042138G>T			B2R6Y6	Silent	SNP	ENST00000324341.1	hg19	CCDS9072.1																																																																																				0.522	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		T	100042138	G	T	100042138	2	4	32	1	0	0	0	0	0	0	0	1	5611	1306	46	4		4	FAM71C	12	100042138	Silent	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	51662569	100042138	33809757	54	2332											
IFT88	8100	hgsc.bcm.edu	37	13	21217615	21217615	+	Silent	SNP	C	C	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr13:21217615C>G	ENST00000319980.6	+	21	2058	c.1731C>G	c.(1729-1731)ccC>ccG	p.P577P	IFT88_ENST00000351808.5_Silent_p.P568P|IFT88_ENST00000382778.4_Silent_p.P577P|IFT88_ENST00000537103.1_Silent_p.P549P	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	577					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGGAAAATCCCAGTCAAGCTA	0.328																																																0													108	106	106					13																	21217615		2203	4300	6503	SO:0001819	synonymous_variant	8100			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1731C>G	chr13.hg19:g.21217615C>G			A2A491|B4DUS2|Q5SZJ6|Q8N719	Silent	SNP	ENST00000319980.6	hg19	CCDS31944.1																																																																																				0.328	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		G	21217615	C	G	21217615	2	3	32	1	0	0	0	0	0	0	0	1	7568	581	21	4		4	IFT88	13	21217615	Silent	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10		21217615	93952263	55	2333											
PAN3	255967	hgsc.bcm.edu	37	13	28830508	28830508	+	Missense_Mutation	SNP	A	A	T	rs372499998		TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr13:28830508A>T	ENST00000380958.3	+	7	1232	c.1080A>T	c.(1078-1080)agA>agT	p.R360S	PAN3_ENST00000483842.1_3'UTR|PAN3_ENST00000282391.5_Missense_Mutation_p.R48S|PAN3_ENST00000399613.1_Missense_Mutation_p.R160S	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CCAGAAGAAGAAGTCACACTC	0.458																																																0								A	SER/ARG	0,4406		0,0,2203	196	176	183		1080	4.6	1	13		183	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAN3	NM_175854.7	110	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	probably-damaging	360/888	28830508	1,13005	2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1080A>T	chr13.hg19:g.28830508A>T	ENSP00000370345:p.Arg360Ser			Missense_Mutation	SNP	ENST00000380958.3	hg19	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	18.98	3.736859	0.69304	0.0	1.16E-4	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.42131	0.98;1.0;0.98	5.8	4.63	0.57726	.	0.043039	0.85682	D	0.000000	T	0.41190	0.1148	N	0.24115	0.695	0.58432	D	0.999999	D;D;D;D	0.67145	0.991;0.996;0.981;0.981	P;D;D;D	0.77557	0.64;0.99;0.943;0.943	T	0.43589	-0.9382	10	0.05436	T	0.98	-15.7444	8.7714	0.34735	0.8559:0.0:0.1441:0.0	.	360;360;48;306	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	S	360;160;48	ENSP00000370345:R360S;ENSP00000382522:R160S;ENSP00000282391:R48S	ENSP00000282391:R48S	R	+	3	2	PAN3	27728508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.930000	0.40124	1.028000	0.39785	0.528000	0.53228	AGA		0.458	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		T	28830508	A	T	28830508	3	4	32	1	0	0	0	0	1	0	0	0	11417	243	9	5	1106	5	PAN3	13	28830508	Missense_Mutation	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10	7612893	28830508	86339370	56	2334											
ZC3H13	23091	hgsc.bcm.edu	37	13	46554017	46554017	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr13:46554017C>A	ENST00000242848.4	-	11	2191	c.1843G>T	c.(1843-1845)Gat>Tat	p.D615Y	ZC3H13_ENST00000282007.3_Missense_Mutation_p.D615Y			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	615	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTGCTTGATCTCTGTTGTCT	0.398																																					Esophageal Squamous(187;747 2077 11056 31291 44172)											0													192	169	177					13																	46554017		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1843G>T	chr13.hg19:g.46554017C>A	ENSP00000242848:p.Asp615Tyr		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	hg19		.	.	.	.	.	.	.	.	.	.	C	14.81	2.646156	0.47258	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.32988	2.41;1.43	5.73	5.73	0.89815	.	0.180213	0.38663	N	0.001610	T	0.42404	0.1201	L	0.29908	0.895	0.80722	D	1	D;D	0.63046	0.986;0.992	P;P	0.59761	0.733;0.863	T	0.08597	-1.0714	10	0.38643	T	0.18	.	19.9162	0.97063	0.0:1.0:0.0:0.0	.	615;615	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Y	615;615;431	ENSP00000242848:D615Y;ENSP00000282007:D615Y	ENSP00000242848:D615Y	D	-	1	0	ZC3H13	45452018	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.104000	0.71498	2.710000	0.92621	0.650000	0.86243	GAT		0.398	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		A	46554017	C	A	46554017	3	1	32	1	0	0	0	0	1	0	0	0	17570	913	32	4	2879	4	ZC3H13	13	46554017	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	17723509	46554017	68615861	57	2335											
TPP2	7174	hgsc.bcm.edu	37	13	103301430	103301430	+	Silent	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr13:103301430G>A	ENST00000376065.4	+	22	2838	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	TPP2_ENST00000376052.3_Silent_p.K934K	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	934					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGGGAAGAAGAAATCAAGCA	0.333																																																0													145	140	141					13																	103301430		2203	4300	6503	SO:0001819	synonymous_variant	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2802G>A	chr13.hg19:g.103301430G>A			Q5VZU8	Silent	SNP	ENST00000376065.4	hg19	CCDS9502.1																																																																																				0.333	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			A	103301430	G	A	103301430	2	1	32	1	0	0	0	0	0	0	0	1	16417	933	33	2		2	TPP2	13	103301430	Silent	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	56747413	103301430	11868448	58	2336											
FANCM	57697	hgsc.bcm.edu	37	14	45628482	45628482	+	Splice_Site	SNP	A	A	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr14:45628482A>G	ENST00000267430.5	+	9	1665	c.1580A>G	c.(1579-1581)gAg>gGg	p.E527G	FANCM_ENST00000542564.2_Splice_Site_p.E501G|FANCM_ENST00000556036.1_Splice_Site_p.E527G	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	527	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAGCAACTGGAGGTAATTATT	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													34	35	34					14																	45628482		2203	4299	6502	SO:0001630	splice_region_variant	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1581+1A>G	chr14.hg19:g.45628482A>G			B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	hg19	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.144462	0.57044	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.77877	-1.13;-1.13;-1.13;3.42	5.28	4.1	0.47936	Helicase, C-terminal (3);	0.243934	0.40640	N	0.001051	T	0.77274	0.4106	L	0.35341	1.055	0.44439	D	0.997363	P;P;P	0.51240	0.943;0.943;0.907	P;P;P	0.55508	0.777;0.698;0.586	T	0.77507	-0.2562	10	0.66056	D	0.02	.	10.9842	0.47513	0.9244:0.0:0.0756:0.0	.	501;527;527	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	G	527;527;501;112	ENSP00000450596:E527G;ENSP00000267430:E527G;ENSP00000442493:E501G;ENSP00000452033:E112G	ENSP00000267430:E527G	E	+	2	0	FANCM	44698232	1.000000	0.71417	0.995000	0.50966	0.600000	0.36913	7.179000	0.77665	0.798000	0.33994	0.460000	0.39030	GAG		0.353	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	Missense_Mutation	G	45628482	A	G	45628482	5	3	32	1	0	0	0	0	0	0	1	0	5673	318	11	3	1614	3	FANCM	14	45628482	Splice_Site	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10		45628482	61721058	59	2337											
SIX6	4990	hgsc.bcm.edu	37	14	60976418	60976418	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr14:60976418A>G	ENST00000327720.5	+	1	750	c.302A>G	c.(301-303)aAg>aGg	p.K101R		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	101					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GAGGCTGAGAAGCTGCGTGGA	0.577																																																0													48	51	50					14																	60976418		2203	4300	6503	SO:0001583	missense	4990			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.302A>G	chr14.hg19:g.60976418A>G	ENSP00000328596:p.Lys101Arg		Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	hg19	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	A	9.599	1.128074	0.20959	.	.	ENSG00000184302	ENST00000327720	D	0.97232	-4.3	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.93729	0.7996	L	0.27975	0.815	0.80722	D	1	B	0.17038	0.02	B	0.16722	0.016	D	0.90866	0.4742	10	0.48119	T	0.1	.	14.7304	0.69377	1.0:0.0:0.0:0.0	.	101	O95475	SIX6_HUMAN	R	101	ENSP00000328596:K101R	ENSP00000328596:K101R	K	+	2	0	SIX6	60046171	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	9.139000	0.94554	2.263000	0.75096	0.379000	0.24179	AAG		0.577	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			G	60976418	A	G	60976418	3	3	32	1	0	0	0	0	1	0	0	0	14357	72	3	3	304	3	SIX6	14	60976418	Missense_Mutation	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10	15347936	60976418	46373122	60	2338											
MYO5A	4644	hgsc.bcm.edu	37	15	52699526	52699526	+	Silent	SNP	C	C	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr15:52699526C>T	ENST00000399231.3	-	8	1152	c.909G>A	c.(907-909)aaG>aaA	p.K303K	MYO5A_ENST00000399233.2_Silent_p.K303K|MYO5A_ENST00000553916.1_Silent_p.K303K|MYO5A_ENST00000356338.6_Silent_p.K303K|MYO5A_ENST00000358212.6_Silent_p.K303K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	303	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTGCCATCTCCTTTGCATCAT	0.378																																																0													142	130	134					15																	52699526		1968	4156	6124	SO:0001819	synonymous_variant	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.909G>A	chr15.hg19:g.52699526C>T			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	hg19	CCDS42037.1																																																																																				0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		T	52699526	C	T	52699526	2	4	32	1	0	0	0	0	0	0	0	1	10080	680	24	2		2	MYO5A	15	52699526	Silent	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10		52699526	49831866	61	2339											
PARP16	54956	hgsc.bcm.edu	37	15	65563347	65563347	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr15:65563347T>C	ENST00000261888.6	-	2	683	c.238A>G	c.(238-240)Aaa>Gaa	p.K80E	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	80	PARP alpha-helical.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CAGGCCCGTTTGTGGTTGTCT	0.522																																					NSCLC(50;885 1163 13509 21242 41978)											0													165	161	162					15																	65563347		2201	4299	6500	SO:0001583	missense	54956			AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"Poly (ADP-ribose) polymerases"	26040	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 30"	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.238A>G	chr15.hg19:g.65563347T>C	ENSP00000261888:p.Lys80Glu		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000261888.6	hg19	CCDS10204.1	.	.	.	.	.	.	.	.	.	.	T	0.539	-0.854339	0.02630	.	.	ENSG00000138617	ENST00000261888	T	0.44482	0.92	5.8	-1.38	0.09027	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.766439	0.13541	N	0.380223	T	0.23370	0.0565	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20042	-1.0287	10	0.21014	T	0.42	0.0022	12.9664	0.58485	0.0:0.0646:0.633:0.3023	.	80;80	Q8N5Y8-3;Q8N5Y8	.;PAR16_HUMAN	E	80	ENSP00000261888:K80E	ENSP00000261888:K80E	K	-	1	0	PARP16	63350400	0.006000	0.16342	0.023000	0.16930	0.334000	0.28698	-0.018000	0.12568	-0.153000	0.11137	0.533000	0.62120	AAA		0.522	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256827.2	NM_017851		C	65563347	T	C	65563347	3	2	32	1	0	0	0	0	1	0	0	0	11462	1821	63	3	753	3	PARP16	15	65563347	Missense_Mutation	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	12863821	65563347	36968045	62	2340											
ITGA11	22801	hgsc.bcm.edu	37	15	68620582	68620582	+	Silent	SNP	C	C	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr15:68620582C>T	ENST00000315757.7	-	16	2006	c.1920G>A	c.(1918-1920)caG>caA	p.Q640Q	ITGA11_ENST00000423218.2_Silent_p.Q640Q	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	640					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TGGCATTGATCTGAACCACTG	0.612																																																0													86	92	90					15																	68620582		2021	4166	6187	SO:0001819	synonymous_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1920G>A	chr15.hg19:g.68620582C>T			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	hg19	CCDS45291.1																																																																																				0.612	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		T	68620582	C	T	68620582	2	4	32	1	0	0	0	0	0	0	0	1	7876	912	32	2		2	ITGA11	15	68620582	Silent	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	3057235	68620582	33910810	63	2341											
GRIN2A	2903	hgsc.bcm.edu	37	16	10274246	10274246	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr16:10274246G>T	ENST00000396573.2	-	3	332	c.23C>A	c.(22-24)aCc>aAc	p.T8N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.T8N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T8N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T8N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T8N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	8					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACCAGCAGGGTCCAATAGCC	0.662																																																0													13	15	14					16																	10274246		2191	4288	6479	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.23C>A	chr16.hg19:g.10274246G>T	ENSP00000379818:p.Thr8Asn		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	hg19	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840531	0.71488	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	T;T;T;T	0.11712	2.76;2.75;2.76;2.76	4.54	4.54	0.55810	.	0.328981	0.24520	N	0.037803	T	0.13713	0.0332	N	0.22421	0.69	0.80722	D	1	D;B;B	0.57899	0.981;0.149;0.149	P;B;B	0.52109	0.69;0.065;0.065	T	0.12993	-1.0526	9	.	.	.	.	16.2901	0.82747	0.0:0.0:1.0:0.0	.	8;8;8	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	8	ENSP00000379818:T8N;ENSP00000385872:T8N;ENSP00000332549:T8N;ENSP00000379820:T8N	.	T	-	2	0	GRIN2A	10181747	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.990000	0.63876	2.088000	0.63022	0.561000	0.74099	ACC		0.662	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	10274246	G	T	10274246	3	4	32	1	0	0	0	0	1	0	0	0	6781	1261	44	4	4419	4	GRIN2A	16	10274246	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10		10274246	80080507	64	2342											
TGFB1I1	7041	hgsc.bcm.edu	37	16	31486006	31486014	+	In_Frame_Del	DEL	CCTCAGCCG	CCTCAGCCG	-	rs199879867		TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	CCTCAGCCG	CCTCAGCCG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr16:31486006_31486014delCCTCAGCCG	ENST00000394863.3	+	7	772_780	c.642_650delCCTCAGCCG	c.(640-651)gacctcagccgc>gac	p.LSR215del	TGFB1I1_ENST00000567607.1_In_Frame_Del_p.LSR198del|TGFB1I1_ENST00000394858.2_In_Frame_Del_p.LSR198del|TGFB1I1_ENST00000361773.3_In_Frame_Del_p.LSR198del	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	215	Interaction with PTK2B/PYK2.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						TGCAGTCCGACCTCAGCCGCCGGGGTGTT	0.622																																																0																																										SO:0001651	inframe_deletion	7041			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.642_650delCCTCAGCCG	chr16.hg19:g.31486006_31486014delCCTCAGCCG	ENSP00000378332:p.Leu215_Arg217del		B2R8D5|Q9BPW3|Q9Y2V5	In_Frame_Del	DEL	ENST00000394863.3	hg19	CCDS42156.1																																																																																				0.622	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			-	31486014	CCTCAGCCG	-	31486006	7	5	32	1	0	1	0	1	0	0	0	0	15822	506	18	0	668	0	TGFB1I1	16	31486006	In_Frame_Del	DEL	CCTCAGCCG	TCGA-5P-A9K0-01A-11D-A42J-10	21211760	31486006	58868747	65	2343											
NLRC5	84166	hgsc.bcm.edu	37	16	57099127	57099127	+	Silent	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr16:57099127G>A	ENST00000262510.6	+	33	4383	c.4158G>A	c.(4156-4158)gtG>gtA	p.V1386V	NLRC5_ENST00000308149.7_Silent_p.V1357V|NLRC5_ENST00000436936.1_Silent_p.V1386V|NLRC5_ENST00000539144.1_Silent_p.V1357V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1386					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTGACAGGGTGCAGGAGCCGT	0.617																																																0													27	28	27					16																	57099127		2198	4300	6498	SO:0001819	synonymous_variant	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4158G>A	chr16.hg19:g.57099127G>A			B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	hg19	CCDS10773.1																																																																																				0.617	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		A	57099127	G	A	57099127	2	1	32	1	0	0	0	0	0	0	0	1	10472	1306	46	2		2	NLRC5	16	57099127	Silent	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	25613121	57099127	33255626	66	2344											
SLC38A8	146167	hgsc.bcm.edu	37	16	84050195	84050197	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr16:84050195_84050197delAAC	ENST00000299709.3	-	8	1088_1090	c.1089_1091delGTT	c.(1087-1092)ctgttt>ctt	p.F364del		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	364					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTCAGGCATAAACAGCGCCATGG	0.631																																																0																																										SO:0001651	inframe_deletion	146167				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1089_1091delGTT	chr16.hg19:g.84050195_84050197delAAC	ENSP00000299709:p.Phe364del			In_Frame_Del	DEL	ENST00000299709.3	hg19	CCDS32495.1																																																																																				0.631	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		-	84050197	AAC	-	84050195	7	5	32	1	0	1	0	1	0	0	0	0	14616	14	1	0	228	0	SLC38A8	16	84050195	In_Frame_Del	DEL	AAC	TCGA-5P-A9K0-01A-11D-A42J-10	26951068	84050195	6304558	67	2345											
MAP2K4	6416	hgsc.bcm.edu	37	17	12028658	12028658	+	Silent	SNP	C	C	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr17:12028658C>T	ENST00000353533.5	+	8	924	c.861C>T	c.(859-861)cgC>cgT	p.R287R	MAP2K4_ENST00000415385.3_Silent_p.R298R	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	287	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(3)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATGATGTCCGCTCTGATGTCT	0.393			"D, Mis, N"		"pancreatic, breast, colorectal"																																		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Unknown(3)	breast(4)|ovary(4)|lung(2)|biliary_tract(1)|large_intestine(1)|pancreas(1)											251	196	214					17																	12028658		2203	4300	6503	SO:0001819	synonymous_variant	6416			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.861C>T	chr17.hg19:g.12028658C>T			B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	ENST00000353533.5	hg19	CCDS11162.1																																																																																				0.393	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			T	12028658	C	T	12028658	2	4	32	1	0	0	0	0	0	0	0	1	9241	784	28	2		2	MAP2K4	17	12028658	Silent	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10		12028658	69166552	68	2346											
WSB1	26118	hgsc.bcm.edu	37	17	25639388	25639388	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr17:25639388G>A	ENST00000262394.2	+	9	1575	c.1259G>A	c.(1258-1260)cGt>cAt	p.R420H	WSB1_ENST00000348811.2_Missense_Mutation_p.R274H|RP11-173M1.8_ENST00000578929.1_lincRNA	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	420	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTCTCGTATCGTATTTAGAAG	0.423																																																0													217	204	208					17																	25639388		2203	4300	6503	SO:0001583	missense	26118			AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"WD repeat domain containing"	19221	protein-coding gene	gene with protein product		610091	"WD repeat and SOCS box-containing 1"			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.1259G>A	chr17.hg19:g.25639388G>A	ENSP00000262394:p.Arg420His		Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	hg19	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609183	0.28623	.	.	ENSG00000109046	ENST00000262394;ENST00000348811	T;T	0.45668	0.89;0.89	5.61	-0.349	0.12609	SOCS protein, C-terminal (4);	0.380726	0.25467	N	0.030468	T	0.37348	0.1000	M	0.77103	2.36	0.25069	N	0.991007	P;P	0.47409	0.895;0.808	B;B	0.39258	0.289;0.295	T	0.36696	-0.9737	10	0.59425	D	0.04	-0.7374	7.4606	0.27294	0.5866:0.0:0.4134:0.0	.	274;420	Q9Y6I7-2;Q9Y6I7	.;WSB1_HUMAN	H	420;274	ENSP00000262394:R420H;ENSP00000327055:R274H	ENSP00000262394:R420H	R	+	2	0	WSB1	22663515	0.713000	0.27926	0.021000	0.16686	0.394000	0.30568	0.916000	0.28651	0.129000	0.18514	-0.812000	0.03155	CGT		0.423	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		A	25639388	G	A	25639388	3	1	32	1	0	0	0	0	1	0	0	0	17409	1145	40	1	1293	1	WSB1	17	25639388	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	13610730	25639388	55555822	69	2347											
KRT23	25984	hgsc.bcm.edu	37	17	39084730	39084730	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr17:39084730G>A	ENST00000209718.3	-	5	1190	c.766C>T	c.(766-768)Cat>Tat	p.H256Y	KRT23_ENST00000436344.3_Missense_Mutation_p.H119Y|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	256	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				AAGTCTCGATGCTTCTTCTTT	0.423																																																0													238	237	238					17																	39084730		2203	4300	6503	SO:0001583	missense	25984			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.766C>T	chr17.hg19:g.39084730G>A	ENSP00000209718:p.His256Tyr		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	hg19	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410931	0.83340	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.88664	-2.41;-2.41	5.82	4.83	0.62350	Filament (1);	0.236010	0.29932	N	0.010825	D	0.88175	0.6366	L	0.40543	1.245	0.36524	D	0.870343	P	0.48911	0.917	P	0.48166	0.569	D	0.91444	0.5176	10	0.87932	D	0	.	16.0906	0.81088	0.0:0.0:0.8649:0.1351	.	256	Q9C075	K1C23_HUMAN	Y	256;119	ENSP00000209718:H256Y;ENSP00000414056:H119Y	ENSP00000209718:H256Y	H	-	1	0	KRT23	36338256	1.000000	0.71417	0.976000	0.42696	0.947000	0.59692	6.419000	0.73345	1.417000	0.47077	0.655000	0.94253	CAT		0.423	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			A	39084730	G	A	39084730	3	1	32	1	0	0	0	0	1	0	0	0	8462	1319	46	2	522	2	KRT23	17	39084730	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	13445342	39084730	42110480	70	2348											
TANC2	26115	hgsc.bcm.edu	37	17	61498264	61498264	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr17:61498264G>T	ENST00000424789.2	+	25	4925	c.4921G>T	c.(4921-4923)Gcc>Tcc	p.A1641S	TANC2_ENST00000389520.4_Missense_Mutation_p.A1651S|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1641					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCATTCAATGGCCAGTAAATA	0.547																																																0													76	82	80					17																	61498264		2162	4277	6439	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4921G>T	chr17.hg19:g.61498264G>T	ENSP00000387593:p.Ala1641Ser		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	hg19	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	4.811	0.150774	0.09185	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.65364	-0.15;-0.15	5.2	5.2	0.72013	.	0.139271	0.48767	D	0.000169	T	0.39226	0.1070	N	0.04508	-0.205	0.37296	D	0.908467	B	0.29766	0.256	B	0.23419	0.046	T	0.42032	-0.9475	10	0.11485	T	0.65	.	19.093	0.93235	0.0:0.0:1.0:0.0	.	1641	Q9HCD6	TANC2_HUMAN	S	1651;1641	ENSP00000374171:A1651S;ENSP00000387593:A1641S	ENSP00000374171:A1651S	A	+	1	0	TANC2	58851996	1.000000	0.71417	0.998000	0.56505	0.337000	0.28794	5.335000	0.65929	2.600000	0.87896	0.561000	0.74099	GCC		0.547	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			T	61498264	G	T	61498264	3	4	32	1	0	0	0	0	1	0	0	0	15550	1203	42	4	5019	4	TANC2	17	61498264	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	22413534	61498264	19696946	71	2349											
NOL11	25926	hgsc.bcm.edu	37	17	65720229	65720229	+	Nonsense_Mutation	SNP	T	T	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr17:65720229T>G	ENST00000253247.4	+	6	699	c.584T>G	c.(583-585)tTa>tGa	p.L195*	NOL11_ENST00000535137.1_Nonsense_Mutation_p.L13*	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	195					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TATACACTCTTACTTGGACAA	0.299																																																0													94	95	95					17																	65720229		2203	4299	6502	SO:0001587	stop_gained	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.584T>G	chr17.hg19:g.65720229T>G	ENSP00000253247:p.Leu195*		B7Z5V9|Q7L5S1|Q9UG18	Nonsense_Mutation	SNP	ENST00000253247.4	hg19	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675567	0.67928	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	.	.	.	4.54	3.46	0.39613	.	0.551131	0.17882	N	0.158838	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4969	6.8539	0.24030	0.0:0.1084:0.0:0.8916	.	.	.	.	X	195;13	.	ENSP00000253247:L195X	L	+	2	0	NOL11	63150691	0.411000	0.25384	0.967000	0.41034	0.223000	0.24884	1.047000	0.30367	0.710000	0.31997	0.377000	0.23210	TTA		0.299	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		G	65720229	T	G	65720229	4	3	32	1	0	0	0	0	0	1	0	0	10523	1764	61	5	606	5	NOL11	17	65720229	Nonsense_Mutation	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	4221965	65720229	15474981	72	2350											
KPNA2	3838	hgsc.bcm.edu	37	17	66039316	66039316	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr17:66039316T>C	ENST00000537025.2	+	7	1387	c.767T>C	c.(766-768)tTa>tCa	p.L256S	KPNA2_ENST00000330459.3_Missense_Mutation_p.L256S			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	256					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTCCTACCTTAGTTCGGCTC	0.458																																																0													178	185	183					17																	66039316		2203	4300	6503	SO:0001583	missense	3838			U09559	CCDS32713.1	17q24.2	2013-02-14						"Importins", "Armadillo repeat containing"	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.767T>C	chr17.hg19:g.66039316T>C	ENSP00000438483:p.Leu256Ser		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	hg19	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173143	0.57584	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	D;D	0.89746	-2.56;-2.56	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000013	D	0.96012	0.8701	H	0.94183	3.505	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.97172	0.9845	10	0.87932	D	0	.	15.7143	0.77655	0.0:0.0:0.0:1.0	.	256	P52292	IMA2_HUMAN	S	256	ENSP00000332455:L256S;ENSP00000438483:L256S	ENSP00000332455:L256S	L	+	2	0	KPNA2	63469778	1.000000	0.71417	0.762000	0.31397	0.036000	0.12997	7.857000	0.86963	2.105000	0.64084	0.455000	0.32223	TTA		0.458	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		C	66039316	T	C	66039316	3	2	32	1	0	0	0	0	1	0	0	0	8432	1764	61	3	789	3	KPNA2	17	66039316	Missense_Mutation	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	319087	66039316	15155894	73	2351											
NEDD4L	23327	hgsc.bcm.edu	37	18	55992364	55992364	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr18:55992364G>T	ENST00000400345.3	+	9	933	c.650G>T	c.(649-651)cGg>cTg	p.R217L	NEDD4L_ENST00000456173.2_Missense_Mutation_p.R96L|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R96L|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R209L|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R217L|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R217L|NEDD4L_ENST00000456986.1_Missense_Mutation_p.R96L|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R96L|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R217L|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R209L|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R96L	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	217	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CACAACAACCGGACCACTCAG	0.542																																																0													176	176	176					18																	55992364		2061	4196	6257	SO:0001583	missense	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.650G>T	chr18.hg19:g.55992364G>T	ENSP00000383199:p.Arg217Leu		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	hg19	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972477	0.92919	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	D;D;D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.51	5.51	0.81932	WW/Rsp5/WWP (6);	0.107321	0.64402	D	0.000014	D	0.94437	0.8210	H	0.96576	3.845	0.58432	D	0.999999	P;D;D;P;P;D;D	0.67145	0.872;0.996;0.996;0.722;0.493;0.986;0.996	B;D;D;B;B;D;D	0.68621	0.441;0.959;0.959;0.369;0.196;0.941;0.959	D	0.95496	0.8573	10	0.72032	D	0.01	.	12.7259	0.57170	0.0748:0.0:0.9252:0.0	.	217;209;209;96;217;217;217	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	L	217;217;217;217;96;96;209;96;96;96	ENSP00000383199:R217L;ENSP00000372301:R217L;ENSP00000348847:R217L;ENSP00000256830:R217L;ENSP00000256832:R96L;ENSP00000411947:R96L;ENSP00000350569:R209L;ENSP00000393395:R96L;ENSP00000405440:R96L;ENSP00000389406:R96L	ENSP00000256830:R217L	R	+	2	0	NEDD4L	54143344	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.623000	0.83113	2.600000	0.87896	0.655000	0.94253	CGG		0.542	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			T	55992364	G	T	55992364	3	4	32	1	0	0	0	0	1	0	0	0	10313	1116	39	4	712	4	NEDD4L	18	55992364	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10		55992364	22084884	74	2352											
CDH20	28316	hgsc.bcm.edu	37	18	59221635	59221635	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr18:59221635A>C	ENST00000262717.4	+	12	2511	c.2113A>C	c.(2113-2115)Atc>Ctc	p.I705L	CDH20_ENST00000538374.1_Missense_Mutation_p.I705L|CDH20_ENST00000536675.2_Missense_Mutation_p.I705L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	705					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GCTGCCCGAGATCGAGAGCCT	0.677																																																0													39	39	39					18																	59221635		2203	4300	6503	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2113A>C	chr18.hg19:g.59221635A>C	ENSP00000262717:p.Ile705Leu		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	hg19	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.098802	0.56183	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.76186	-1.0;-1.0;-1.0	5.78	5.78	0.91487	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	L	0.28274	0.84	0.51767	D	0.999931	P	0.39376	0.67	B	0.43194	0.411	T	0.62310	-0.6881	10	0.10111	T	0.7	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	705	Q9HBT6	CAD20_HUMAN	L	705	ENSP00000444767:I705L;ENSP00000442226:I705L;ENSP00000262717:I705L	ENSP00000262717:I705L	I	+	1	0	CDH20	57372615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.218000	0.65257	2.333000	0.79357	0.533000	0.62120	ATC		0.677	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		C	59221635	A	C	59221635	3	2	32	1	0	0	0	0	1	0	0	0	3108	333	12	5	2155	5	CDH20	18	59221635	Missense_Mutation	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10	3229271	59221635	18855613	75	2353											
TJP3	27134	hgsc.bcm.edu	37	19	3740744	3740744	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr19:3740744G>A	ENST00000541714.2	+	14	2288	c.1826G>A	c.(1825-1827)cGa>cAa	p.R609Q	TJP3_ENST00000589378.1_Missense_Mutation_p.R618Q|TJP3_ENST00000539908.2_Missense_Mutation_p.R573Q|TJP3_ENST00000382008.3_Missense_Mutation_p.R623Q|TJP3_ENST00000587686.1_Missense_Mutation_p.R628Q|TJP3_ENST00000262968.9_Missense_Mutation_p.R642Q	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	609	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTACGAACGAGTGGTGTTG	0.642																																																0													17	19	18					19																	3740744		2201	4298	6499	SO:0001583	missense	27134			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1826G>A	chr19.hg19:g.3740744G>A	ENSP00000439278:p.Arg609Gln		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	hg19	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944565	0.73672	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.11385	2.78;2.97;2.78;2.87	5.0	5.0	0.66597	Guanylate kinase/L-type calcium channel (1);	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	M	0.86268	2.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;P	0.80764	0.988;0.994;0.977;0.889	T	0.41431	-0.9509	10	0.87932	D	0	.	16.8553	0.86004	0.0:0.0:1.0:0.0	.	628;642;623;609	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	Q	609;573;623;642	ENSP00000439278:R609Q;ENSP00000439991:R573Q;ENSP00000371438:R623Q;ENSP00000262968:R642Q	ENSP00000262968:R642Q	R	+	2	0	TJP3	3691744	1.000000	0.71417	0.527000	0.27925	0.131000	0.20780	5.430000	0.66501	2.286000	0.76751	0.655000	0.94253	CGA		0.642	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			A	3740744	G	A	3740744	3	1	32	1	0	0	0	0	1	0	0	0	15936	1058	37	1	1975	1	TJP3	19	3740744	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10		3740744	55388239	76	2354											
MPND	84954	hgsc.bcm.edu	37	19	4343749	4343749	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr19:4343749C>A	ENST00000262966.8	+	2	119	c.52C>A	c.(52-54)Ccg>Acg	p.P18T	AC007292.7_ENST00000598582.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.P18T|MPND_ENST00000599840.1_Missense_Mutation_p.P18T	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	18							peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGGAGGCGCCGGAGGAGGA	0.776																																																0													2	3	2					19																	4343749		1012	2236	3248	SO:0001583	missense	84954				CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.52C>A	chr19.hg19:g.4343749C>A	ENSP00000262966:p.Pro18Thr		Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	hg19	CCDS42470.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962778	0.53507	.	.	ENSG00000008382	ENST00000262966;ENST00000359935	T;T	0.46819	0.86;0.86	3.52	2.46	0.29980	.	0.228377	0.26079	N	0.026463	T	0.36386	0.0965	L	0.56769	1.78	0.26945	N	0.96617	P;B;B	0.35982	0.531;0.244;0.244	B;B;B	0.29785	0.107;0.05;0.05	T	0.41822	-0.9487	10	0.87932	D	0	-21.8679	5.8373	0.18615	0.0:0.8489:0.0:0.1511	.	18;18;18	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	T	18	ENSP00000262966:P18T;ENSP00000353015:P18T	ENSP00000262966:P18T	P	+	1	0	MPND	4294749	0.575000	0.26692	0.970000	0.41538	0.979000	0.70002	0.457000	0.21875	1.493000	0.48517	0.455000	0.32223	CCG		0.776	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		A	4343749	C	A	4343749	3	1	32	1	0	0	0	0	1	0	0	0	9733	739	26	4	58	4	MPND	19	4343749	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	603005	4343749	54785234	77	2355											
SLC5A5	6528	hgsc.bcm.edu	37	19	17986910	17986910	+	Silent	SNP	C	C	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr19:17986910C>A	ENST00000222248.3	+	5	1040	c.693C>A	c.(691-693)ctC>ctA	p.L231L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	231					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGATCAACCTCATGGAGTGAG	0.622																																					Melanoma(65;1008 1708 7910 46650)											0													139	115	123					19																	17986910		2203	4300	6503	SO:0001819	synonymous_variant	6528				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.693C>A	chr19.hg19:g.17986910C>A			O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	hg19	CCDS12368.1																																																																																				0.622	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			A	17986910	C	A	17986910	2	1	32	1	0	0	0	0	0	0	0	1	14674	813	29	4		4	SLC5A5	19	17986910	Silent	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	13643161	17986910	41142073	78	2356											
RAB3A	5864	hgsc.bcm.edu	37	19	18309591	18309591	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr19:18309591A>C	ENST00000222256.4	-	4	594	c.416T>G	c.(415-417)aTg>aGg	p.M139R	RAB3A_ENST00000464076.3_Missense_Mutation_p.M44R	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	139					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTCATCCTCCATGTCACACTT	0.577																																																0													148	113	125					19																	18309591		2203	4300	6503	SO:0001583	missense	5864				CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"RAB, member RAS oncogene"	9777	protein-coding gene	gene with protein product	"RAS-associated protein RAB3A"	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.416T>G	chr19.hg19:g.18309591A>C	ENSP00000222256:p.Met139Arg		A8K0J4|Q9NYE1	Missense_Mutation	SNP	ENST00000222256.4	hg19	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812370	0.50527	.	.	ENSG00000105649	ENST00000222256	T	0.79454	-1.27	5.24	4.23	0.50019	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	L	0.38838	1.175	0.80722	D	1	B	0.09022	0.002	B	0.15484	0.013	T	0.63134	-0.6705	10	0.72032	D	0.01	-41.6067	9.0893	0.36601	0.9116:0.0:0.0884:0.0	.	139	P20336	RAB3A_HUMAN	R	139	ENSP00000222256:M139R	ENSP00000222256:M139R	M	-	2	0	RAB3A	18170591	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.115000	0.94336	0.831000	0.34780	0.459000	0.35465	ATG		0.577	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		C	18309591	A	C	18309591	3	2	32	1	0	0	0	0	1	0	0	0	12937	217	8	5	254	5	RAB3A	19	18309591	Missense_Mutation	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10	322681	18309591	40819392	79	2357											
ZNF575	284346	hgsc.bcm.edu	37	19	44039436	44039442	+	Frame_Shift_Del	DEL	CGCACAG	CGCACAG	-			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	CGCACAG	CGCACAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr19:44039436_44039442delCGCACAG	ENST00000314228.5	+	4	847_853	c.335_341delCGCACAG	c.(334-342)acgcacagcfs	p.THS112fs	ZNF575_ENST00000458714.2_Frame_Shift_Del_p.THS211fs|ZNF575_ENST00000601282.1_Frame_Shift_Del_p.THS112fs	NM_174945.2	NP_777605.1	Q86XF7	ZN575_HUMAN	zinc finger protein 575	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				CACCGCCTCACGCACAGCGGCGCCCGC	0.72																																																0																																										SO:0001589	frameshift_variant	284346			BC043611	CCDS12623.1	19q13.31	2013-09-20			ENSG00000176472	ENSG00000176472		"Zinc fingers, C2H2-type"	27606	protein-coding gene	gene with protein product							Standard	NM_174945		Approved	FLJ32567	uc002ows.3	Q86XF7	OTTHUMG00000182698	ENST00000314228.5:c.335_341delCGCACAG	chr19.hg19:g.44039436_44039442delCGCACAG	ENSP00000315870:p.Thr112fs		B4DX54	Frame_Shift_Del	DEL	ENST00000314228.5	hg19	CCDS12623.1																																																																																				0.72	ZNF575-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463191.1	NM_174945		-	44039442	CGCACAG	-	44039436	7	5	32	1	0	1	0	1	0	0	0	0	18012	536	19	0	341	0	ZNF575	19	44039436	Frame_Shift_Del	DEL	CGCACAG	TCGA-5P-A9K0-01A-11D-A42J-10	25729845	44039436	15089547	80	2358											
RSPH6A	81492	hgsc.bcm.edu	37	19	46308112	46308112	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr19:46308112T>G	ENST00000221538.3	-	3	1193	c.1051A>C	c.(1051-1053)Atc>Ctc	p.I351L	RSPH6A_ENST00000597055.1_Missense_Mutation_p.I351L|RSPH6A_ENST00000600188.1_Missense_Mutation_p.I87L	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	351						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTGCGTTTGATTCCCAGGATC	0.612																																																0													79	63	69					19																	46308112		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1051A>C	chr19.hg19:g.46308112T>G	ENSP00000221538:p.Ile351Leu		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	hg19	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.539158	0.00942	.	.	ENSG00000104941	ENST00000221538	T	0.15718	2.4	4.08	0.585	0.17428	.	0.639188	0.14459	N	0.318311	T	0.03871	0.0109	N	0.00980	-1.08	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43458	-0.9390	10	0.02654	T	1	-1.7801	7.385	0.26878	0.0:0.1517:0.3433:0.505	.	351	Q9H0K4	RSH6A_HUMAN	L	351	ENSP00000221538:I351L	ENSP00000221538:I351L	I	-	1	0	RSPH6A	50999952	0.348000	0.24861	0.144000	0.22314	0.492000	0.33523	1.902000	0.39848	0.227000	0.20999	-0.666000	0.03841	ATC		0.612	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			G	46308112	T	G	46308112	3	3	32	1	0	0	0	0	1	0	0	0	13713	1493	52	5	1118	5	RSPH6A	19	46308112	Missense_Mutation	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	2268676	46308112	12820871	81	2359											
ZNF470	388566	hgsc.bcm.edu	37	19	57088479	57088479	+	Silent	SNP	T	T	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr19:57088479T>C	ENST00000330619.8	+	6	1368	c.682T>C	c.(682-684)Tta>Cta	p.L228L	ZNF470_ENST00000391709.3_Silent_p.L228L|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AAAGAAACTTTTAAAATGTAA	0.318																																																0													41	43	42					19																	57088479		2203	4298	6501	SO:0001819	synonymous_variant	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.682T>C	chr19.hg19:g.57088479T>C			A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	ENST00000330619.8	hg19	CCDS33122.1																																																																																				0.318	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		C	57088479	T	C	57088479	2	2	32	1	0	0	0	0	0	0	0	1	17934	1838	64	3		3	ZNF470	19	57088479	Silent	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	10780367	57088479	2040504	82	2360	28	2									
ZNF470	388566	hgsc.bcm.edu	37	19	57088481	57088481	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr19:57088481delA	ENST00000330619.8	+	6	1370	c.684delA	c.(682-684)ttafs	p.L228fs	ZNF470_ENST00000391709.3_Frame_Shift_Del_p.L228fs|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGAAACTTTTAAAATGTAATG	0.318																																																0													41	43	42					19																	57088481		2202	4298	6500	SO:0001589	frameshift_variant	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.684delA	chr19.hg19:g.57088481delA	ENSP00000333223:p.Leu228fs		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Frame_Shift_Del	DEL	ENST00000330619.8	hg19	CCDS33122.1																																																																																				0.318	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		-	57088481	A	-	57088481	7	5	32	1	0	1	0	1	0	0	0	0	17934	359	13	0	698	0	ZNF470	19	57088481	Frame_Shift_Del	DEL	A	TCGA-5P-A9K0-01A-11D-A42J-10	2	57088481	2040502	83	2361	28	2									
CENPB	1059	hgsc.bcm.edu	37	20	3766512	3766512	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr20:3766512G>T	ENST00000379751.4	-	1	825	c.619C>A	c.(619-621)Cag>Aag	p.Q207K	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	207					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCCGCGGCCTGGTCGGGCAGG	0.711																																																0													38	42	41					20																	3766512		2053	3965	6018	SO:0001583	missense	1059			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.619C>A	chr20.hg19:g.3766512G>T	ENSP00000369075:p.Gln207Lys		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	hg19	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	g	2.123	-0.400953	0.04865	.	.	ENSG00000125817	ENST00000379751	T	0.41065	1.01	4.04	3.06	0.35304	.	0.329002	0.17525	U	0.171098	T	0.18635	0.0447	N	0.05230	-0.09	0.29031	N	0.885727	B	0.20052	0.041	B	0.22880	0.042	T	0.25745	-1.0123	10	0.02654	T	1	-13.7175	10.5484	0.45072	0.0:0.0:0.8047:0.1952	.	207	P07199	CENPB_HUMAN	K	207	ENSP00000369075:Q207K	ENSP00000369075:Q207K	Q	-	1	0	CENPB	3714512	1.000000	0.71417	0.996000	0.52242	0.238000	0.25445	2.542000	0.45744	0.647000	0.30713	0.457000	0.33378	CAG		0.711	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		T	3766512	G	T	3766512	3	4	32	1	0	0	0	0	1	0	0	0	3229	1357	47	4	1184	4	CENPB	20	3766512	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10		3766512	59259008	84	2362											
RPN2	6185	hgsc.bcm.edu	37	20	35864988	35864988	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr20:35864988C>A	ENST00000237530.6	+	16	2070	c.1759C>A	c.(1759-1761)Ctg>Atg	p.L587M	RPN2_ENST00000373622.5_Missense_Mutation_p.L555M|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	587					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TGCAGCTATGCTGGGACTCAT	0.463																																																0													127	99	108					20																	35864988		2203	4300	6503	SO:0001583	missense	6185			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1759C>A	chr20.hg19:g.35864988C>A	ENSP00000237530:p.Leu587Met		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	hg19	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482967	0.63962	.	.	ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000397161;ENST00000437329	T;T;T	0.61980	0.06;0.06;0.06	4.98	4.98	0.66077	.	0.080968	0.50627	D	0.000116	T	0.77850	0.4192	M	0.73962	2.25	0.51767	D	0.999932	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.987	T	0.76966	-0.2763	10	0.38643	T	0.18	-7.2993	15.8004	0.78450	0.0:1.0:0.0:0.0	.	555;587	Q5JYR6;P04844	.;RPN2_HUMAN	M	587;555;94;94	ENSP00000237530:L587M;ENSP00000362724:L555M;ENSP00000409580:L94M	ENSP00000237530:L587M	L	+	1	2	RPN2	35298402	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.846000	0.48262	2.584000	0.87258	0.561000	0.74099	CTG		0.463	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		A	35864988	C	A	35864988	3	1	32	1	0	0	0	0	1	0	0	0	13614	796	28	4	1821	4	RPN2	20	35864988	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	32098476	35864988	27160532	85	2363											
KRTAP8-1	337879	hgsc.bcm.edu	37	21	32185474	32185474	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr21:32185474delG	ENST00000329621.4	-	1	96	c.65delC	c.(64-66)ccgfs	p.P22fs		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	22	12 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(1)|lung(4)	6						ATATCCCAGCGGGTAGCCATA	0.597																																																0													83	71	75					21																	32185474		2203	4300	6503	SO:0001589	frameshift_variant	337879			AJ457064	CCDS13607.1	21q22.1	2006-03-13			ENSG00000183640	ENSG00000183640		"Keratin associated proteins"	18935	protein-coding gene	gene with protein product						12359730	Standard	NM_175857		Approved	KAP8.1	uc002you.3	Q8IUC2	OTTHUMG00000057771	ENST00000329621.4:c.65delC	chr21.hg19:g.32185474delG	ENSP00000332805:p.Pro22fs		Q3LI57	Frame_Shift_Del	DEL	ENST00000329621.4	hg19	CCDS13607.1																																																																																				0.597	KRTAP8-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128223.1			-	32185474	G	-	32185474	7	5	32	1	0	1	0	1	0	0	0	0	8574	1116	39	0	130	0	KRTAP8-1	21	32185474	Frame_Shift_Del	DEL	G	TCGA-5P-A9K0-01A-11D-A42J-10		32185474	15944421	86	2364											
MORC3	23515	hgsc.bcm.edu	37	21	37741433	37741433	+	Silent	SNP	A	A	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr21:37741433A>C	ENST00000400485.1	+	15	1843	c.1767A>C	c.(1765-1767)gcA>gcC	p.A589A	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	589					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCAAACCTGCAGTAGATCATG	0.413																																																0													205	197	199					21																	37741433		2108	4220	6328	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1767A>C	chr21.hg19:g.37741433A>C			A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	hg19	CCDS42924.1																																																																																				0.413	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		C	37741433	A	C	37741433	2	2	32	1	0	0	0	0	0	0	0	1	9705	175	7	5		5	MORC3	21	37741433	Silent	SNP	A	TCGA-5P-A9K0-01A-11D-A42J-10	5555959	37741433	10388462	87	2365											
COMT	1312	hgsc.bcm.edu	37	22	19956092	19956092	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chr22:19956092C>G	ENST00000361682.6	+	6	1031	c.649C>G	c.(649-651)Ctg>Gtg	p.L217V	COMT_ENST00000407537.1_Missense_Mutation_p.L167V|COMT_ENST00000449653.1_Missense_Mutation_p.L167V|COMT_ENST00000406520.3_Missense_Mutation_p.L217V|COMT_ENST00000403710.1_Missense_Mutation_p.L217V	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	217					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	GACAGTGCTACTGGCTGACAA	0.607																																																0													85	66	73					22																	19956092		2203	4300	6503	SO:0001583	missense	1312				CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.649C>G	chr22.hg19:g.19956092C>G	ENSP00000354511:p.Leu217Val		A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Missense_Mutation	SNP	ENST00000361682.6	hg19	CCDS13770.1	.	.	.	.	.	.	.	.	.	.	C	7.677	0.688266	0.14973	.	.	ENSG00000093010	ENST00000361682;ENST00000403710;ENST00000407537;ENST00000412786;ENST00000406520;ENST00000449653	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.2	0.507	0.16967	.	0.078098	0.52532	N	0.000062	T	0.48589	0.1508	N	0.25380	0.74	0.48185	D	0.9996	B	0.33345	0.409	B	0.38225	0.268	T	0.14200	-1.0481	9	.	.	.	-4.4637	5.9261	0.19112	0.0:0.5177:0.2579:0.2243	.	217	P21964	COMT_HUMAN	V	217;217;167;217;217;167	ENSP00000354511:L217V;ENSP00000385917:L217V;ENSP00000384654:L167V;ENSP00000403958:L217V;ENSP00000385150:L217V;ENSP00000416778:L167V	.	L	+	1	2	COMT	18336092	0.931000	0.31567	0.061000	0.19648	0.053000	0.15095	0.873000	0.28052	0.009000	0.14813	0.491000	0.48974	CTG		0.607	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2	NM_000754		G	19956092	C	G	19956092	3	3	32	1	0	0	0	0	1	0	0	0	3727	564	20	4	663	4	COMT	22	19956092	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10		19956092	31348474	88	2366											
KDM6A	7403	hgsc.bcm.edu	37	X	44950075	44950075	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chrX:44950075delA	ENST00000377967.4	+	26	3885	c.3844delA	c.(3844-3846)aagfs	p.K1282fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1203fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1237fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1289fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1282					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACGAAATATCAAGGTCTCAGA	0.363			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											179	155	163					X																	44950075		2203	4300	6503	SO:0001589	frameshift_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3844delA	chrX.hg19:g.44950075delA	ENSP00000367203:p.Lys1282fs		Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	hg19	CCDS14265.1																																																																																				0.363	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		-	44950075	A	-	44950075	7	5	32	1	0	1	0	1	0	0	0	0	8139	131	5	0	3946	0	KDM6A	23	44950075	Frame_Shift_Del	DEL	A	TCGA-5P-A9K0-01A-11D-A42J-10		44950075	110320485	89	2367											
PPP1R3F	89801	hgsc.bcm.edu	37	X	49126754	49126754	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chrX:49126754T>A	ENST00000055335.6	+	1	438	c.422T>A	c.(421-423)cTg>cAg	p.L141Q	PPP1R3F_ENST00000495799.1_Intron|LL0XNC01-7P3.1_ENST00000602455.1_lincRNA|PPP1R3F_ENST00000438316.1_Intron|PPP1R3F_ENST00000466508.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	141	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGGAGGCGCTGCTGCCGCCT	0.761																																																0													2	3	3					X																	49126754		1527	3160	4687	SO:0001583	missense	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.422T>A	chrX.hg19:g.49126754T>A	ENSP00000055335:p.Leu141Gln		A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	hg19	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	t	17.42	3.385987	0.61956	.	.	ENSG00000049769	ENST00000055335	T	0.60299	0.2	4.24	3.06	0.35304	Putative phosphatase regulatory subunit (1);	0.000000	0.30401	N	0.009707	T	0.55273	0.1910	L	0.33339	1.005	0.80722	D	1	D	0.65815	0.995	P	0.59115	0.852	T	0.57740	-0.7759	10	0.87932	D	0	-6.2371	4.6588	0.12632	0.0:0.2485:0.0:0.7515	.	141	Q6ZSY5	PPR3F_HUMAN	Q	141	ENSP00000055335:L141Q	ENSP00000055335:L141Q	L	+	2	0	PPP1R3F	49013698	0.963000	0.33076	1.000000	0.80357	0.994000	0.84299	0.866000	0.27954	1.504000	0.48704	0.419000	0.28159	CTG		0.761	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		A	49126754	T	A	49126754	3	1	32	1	0	0	0	0	1	0	0	0	12380	1580	55	5	424	5	PPP1R3F	23	49126754	Missense_Mutation	SNP	T	TCGA-5P-A9K0-01A-11D-A42J-10	4176679	49126754	106143806	90	2368											
HUWE1	10075	hgsc.bcm.edu	37	X	53619440	53619440	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chrX:53619440C>T	ENST00000342160.3	-	32	4347	c.3890G>A	c.(3889-3891)gGg>gAg	p.G1297E	HUWE1_ENST00000262854.6_Missense_Mutation_p.G1297E|HUWE1_ENST00000218328.8_Missense_Mutation_p.G1297E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1297					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTCGAGACCCCTCCTTCTC	0.547																																																0													244	192	210					X																	53619440		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3890G>A	chrX.hg19:g.53619440C>T	ENSP00000340648:p.Gly1297Glu		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430637	0.62844	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.44083	1.22;1.22;0.93	5.88	5.88	0.94601	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	L	0.33485	1.01	0.80722	D	1	B;B	0.29432	0.192;0.244	B;B	0.32211	0.142;0.097	T	0.21415	-1.0246	10	0.56958	D	0.05	.	17.8502	0.88744	0.0:1.0:0.0:0.0	.	1297;1297	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	E	1297	ENSP00000340648:G1297E;ENSP00000262854:G1297E;ENSP00000218328:G1297E	ENSP00000218328:G1297E	G	-	2	0	HUWE1	53636165	1.000000	0.71417	0.942000	0.38095	0.803000	0.45373	7.121000	0.77160	2.489000	0.83994	0.600000	0.82982	GGG		0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53619440	C	T	53619440	3	4	32	1	0	0	0	0	1	0	0	0	7463	623	22	2	9442	2	HUWE1	23	53619440	Missense_Mutation	SNP	C	TCGA-5P-A9K0-01A-11D-A42J-10	4492686	53619440	101651120	91	2369											
ATP1B4	23439	hgsc.bcm.edu	37	X	119500447	119500447	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9K0-01A-11D-A42J-10	TCGA-5P-A9K0-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a26d518a-50bf-4b8e-98cb-308952c4b675	35135c15-ac82-41b6-ad60-f04f92bf961f	g.chrX:119500447G>C	ENST00000218008.3	+	2	188	c.131G>C	c.(130-132)cGg>cCg	p.R44P	ATP1B4_ENST00000361319.3_Missense_Mutation_p.R44P|ATP1B4_ENST00000539306.1_Missense_Mutation_p.R44P	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	44	Glu-rich.				monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GAAGAGGCTCGGGTGACGGTG	0.512																																																0													95	89	91					X																	119500447		2203	4300	6503	SO:0001583	missense	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.131G>C	chrX.hg19:g.119500447G>C	ENSP00000218008:p.Arg44Pro		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	hg19	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	5.008	0.187169	0.09547	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.09163	3.01;3.01;3.01	5.51	-9.66	0.00534	.	0.985232	0.08295	N	0.967802	T	0.05456	0.0144	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.44711	-0.9310	10	0.66056	D	0.02	-10.7869	10.5975	0.45347	0.6174:0.1732:0.2095:0.0	.	44;44;44;44	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	P	44	ENSP00000218008:R44P;ENSP00000355346:R44P;ENSP00000443334:R44P	ENSP00000218008:R44P	R	+	2	0	ATP1B4	119384475	0.022000	0.18835	0.001000	0.08648	0.175000	0.22909	-2.104000	0.01340	-2.816000	0.00345	-0.912000	0.02778	CGG		0.512	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		C	119500447	G	C	119500447	3	2	32	1	0	0	0	0	1	0	0	0	1135	1116	39	4	137	4	ATP1B4	23	119500447	Missense_Mutation	SNP	G	TCGA-5P-A9K0-01A-11D-A42J-10	65881007	119500447	35770113	92	2370											
TAS1R3	83756	hgsc.bcm.edu	37	1	1268443	1268443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr1:1268443delG	ENST00000339381.5	+	4	1450	c.1418delG	c.(1417-1419)aggfs	p.R473fs		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	473					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GACGTGGGCAGGTTCAACGGC	0.647																																																0													52	48	49					1																	1268443		2200	4296	6496	SO:0001589	frameshift_variant	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1418delG	chr1.hg19:g.1268443delG	ENSP00000344411:p.Arg473fs		Q5TA49|Q8NGW9	Frame_Shift_Del	DEL	ENST00000339381.5	hg19	CCDS30556.1																																																																																				0.647	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			-	1268443	G	-	1268443	7	5	33	1	0	1	0	1	0	0	0	0	15569	1000	35	0	1432	0	TAS1R3	1	1268443	Frame_Shift_Del	DEL	G	TCGA-5P-A9K2-01A-11D-A42J-10		1268443	247982178	1	2371											
TNFRSF14	8764	hgsc.bcm.edu	37	1	2491291	2491291	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr1:2491291T>C	ENST00000355716.4	+	4	633	c.334T>C	c.(334-336)Tcc>Ccc	p.S112P	RP3-395M20.8_ENST00000416860.2_RNA|RP3-395M20.8_ENST00000452793.1_RNA|TNFRSF14_ENST00000409119.1_Missense_Mutation_p.S112P	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	112					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CCGGAACTGCTCCAGGACAGA	0.687			"Mis, N, F"		follicular lymphoma																																		Rec	yes		1	1p36.32	8764	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"		L	0													32	34	33					1																	2491291		2198	4295	6493	SO:0001583	missense	8764			U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"Tumor necrosis factor receptor superfamily", "CD molecules"	11912	protein-coding gene	gene with protein product	"herpesvirus entry mediator"	602746	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.334T>C	chr1.hg19:g.2491291T>C	ENSP00000347948:p.Ser112Pro		B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	hg19	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.689551	0.29962	.	.	ENSG00000157873	ENST00000426449;ENST00000434817;ENST00000435221;ENST00000451778;ENST00000409119;ENST00000355716	D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	3.04	1.9	0.25705	TNFR/CD27/30/40/95 cysteine-rich region (4);	.	.	.	.	D	0.93556	0.7943	M	0.77486	2.375	0.25545	N	0.987142	D	0.69078	0.997	D	0.79784	0.993	D	0.84151	0.0423	9	0.72032	D	0.01	-17.456	4.8629	0.13592	0.0:0.1455:0.0:0.8545	.	112	Q92956	TNR14_HUMAN	P	112	ENSP00000411854:S112P;ENSP00000415254:S112P;ENSP00000399292:S112P;ENSP00000399533:S112P;ENSP00000386859:S112P;ENSP00000347948:S112P	ENSP00000347948:S112P	S	+	1	0	TNFRSF14	2483127	0.821000	0.29204	0.619000	0.29118	0.023000	0.10783	0.787000	0.26858	0.572000	0.29383	0.379000	0.24179	TCC		0.687	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			C	2491291	T	C	2491291	3	2	33	1	0	0	0	0	1	0	0	0	16294	1551	54	3	348	3	TNFRSF14	1	2491291	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	1222848	2491291	246759330	2	2372											
BAI2	576	hgsc.bcm.edu	37	1	32198684	32198684	+	Silent	SNP	G	G	A	rs140842802		TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr1:32198684G>A	ENST00000373658.3	-	26	3854	c.3513C>T	c.(3511-3513)gcC>gcT	p.A1171A	BAI2_ENST00000373655.2_Silent_p.A1171A|BAI2_ENST00000398556.3_Silent_p.A1086A|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398542.1_Silent_p.A1071A|BAI2_ENST00000527361.1_Silent_p.A1138A|BAI2_ENST00000398547.1_Silent_p.A1104A|BAI2_ENST00000398538.1_Silent_p.A1159A|BAI2_ENST00000257070.4_Silent_p.A1138A|BAI2_ENST00000440175.2_Silent_p.A780A	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1171					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TAGCCAGGACGGCAGACATCC	0.627																																																0								G		1,4393		0,1,2196	57	42	47		3513	-4.8	0.9	1	dbSNP_134	47	0,8588		0,0,4294	no	coding-synonymous	BAI2	NM_001703.2		0,1,6490	AA,AG,GG		0.0,0.0228,0.0077		1171/1586	32198684	1,12981	2197	4294	6491	SO:0001819	synonymous_variant	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3513C>T	chr1.hg19:g.32198684G>A			B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	hg19	CCDS346.2																																																																																				0.627	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		A	32198684	G	A	32198684	2	1	33	1	0	0	0	0	0	0	0	1	1299	1103	39	1		1	BAI2	1	32198684	Silent	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	29707393	32198684	217051937	3	2373											
THRAP3	9967	hgsc.bcm.edu	37	1	36751972	36751972	+	Silent	SNP	T	T	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr1:36751972T>G	ENST00000354618.5	+	4	365	c.141T>G	c.(139-141)tcT>tcG	p.S47S	THRAP3_ENST00000469141.2_Silent_p.S47S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	47	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATTCCAGTTCTAGGTCTCGTT	0.388			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													77	80	79					1																	36751972		2202	4300	6502	SO:0001819	synonymous_variant	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.141T>G	chr1.hg19:g.36751972T>G			D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	hg19	CCDS405.1																																																																																				0.388	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		G	36751972	T	G	36751972	2	3	33	1	0	0	0	0	0	0	0	1	15879	1509	53	5		5	THRAP3	1	36751972	Silent	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	4553288	36751972	212498649	4	2374											
MTF1	4520	hgsc.bcm.edu	37	1	38288019	38288019	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr1:38288019G>A	ENST00000373036.4	-	9	1681	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	514					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCCACAGCTGATGCCACTGC	0.567																																																0													44	42	42					1																	38288019		2203	4300	6503	SO:0001583	missense	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1541C>T	chr1.hg19:g.38288019G>A	ENSP00000362127:p.Ser514Leu		B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	hg19	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743385	0.30865	.	.	ENSG00000188786	ENST00000373036	T	0.38722	1.12	4.65	4.65	0.58169	.	0.806293	0.10166	N	0.707756	T	0.34454	0.0898	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.07712	-1.0758	10	0.37606	T	0.19	.	13.3481	0.60587	0.0:0.0:1.0:0.0	.	514	Q14872	MTF1_HUMAN	L	514	ENSP00000362127:S514L	ENSP00000362127:S514L	S	-	2	0	MTF1	38060606	0.049000	0.20398	0.028000	0.17463	0.994000	0.84299	2.507000	0.45442	2.873000	0.98535	0.561000	0.74099	TCA		0.567	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		A	38288019	G	A	38288019	3	1	33	1	0	0	0	0	1	0	0	0	9924	1294	45	2	732	2	MTF1	1	38288019	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	1536047	38288019	210962602	5	2375											
ASH1L	55870	hgsc.bcm.edu	37	1	155451901	155451901	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr1:155451901T>C	ENST00000368346.3	-	3	1399	c.760A>G	c.(760-762)Atc>Gtc	p.I254V	ASH1L_ENST00000392403.3_Missense_Mutation_p.I254V|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	254					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCTTTCCTGATCAAATCCTTG	0.443																																																0													125	118	120					1																	155451901		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.760A>G	chr1.hg19:g.155451901T>C	ENSP00000357330:p.Ile254Val		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	hg19		.	.	.	.	.	.	.	.	.	.	T	11.90	1.777686	0.31502	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88975	-2.45;-2.45	4.44	4.44	0.53790	.	0.373475	0.24940	N	0.034388	T	0.69405	0.3107	N	0.19112	0.55	0.80722	D	1	B;B	0.24651	0.066;0.108	B;B	0.20955	0.014;0.032	T	0.69075	-0.5241	10	0.33141	T	0.24	.	10.2656	0.43453	0.0:0.0:0.0:1.0	.	254;254	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	254	ENSP00000357330:I254V;ENSP00000376204:I254V	ENSP00000357330:I254V	I	-	1	0	ASH1L	153718525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.002000	0.40835	2.003000	0.58678	0.460000	0.39030	ATC		0.443	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		C	155451901	T	C	155451901	3	2	33	1	0	0	0	0	1	0	0	0	1041	1435	50	3	8238	3	ASH1L	1	155451901	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	117163882	155451901	93798720	6	2376											
IARS2	55699	hgsc.bcm.edu	37	1	220267813	220267813	+	Silent	SNP	G	G	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr1:220267813G>T	ENST00000302637.5	+	1	359	c.255G>T	c.(253-255)ctG>ctT	p.L85L	IARS2_ENST00000366922.1_Silent_p.L13L	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	85					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ACACGGAGCTGGAGATCCAGC	0.711																																																0													7	10	9					1																	220267813		2113	4210	6323	SO:0001819	synonymous_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.255G>T	chr1.hg19:g.220267813G>T			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	hg19	CCDS1523.1																																																																																				0.711	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		T	220267813	G	T	220267813	2	4	33	1	0	0	0	0	0	0	0	1	7476	1335	47	4		4	IARS2	1	220267813	Silent	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	64815912	220267813	28982808	7	2377											
CAD	790	hgsc.bcm.edu	37	2	27463149	27463149	+	Missense_Mutation	SNP	G	G	T	rs199572743		TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr2:27463149G>T	ENST00000403525.1	+	34	5468	c.5324G>T	c.(5323-5325)cGc>cTc	p.R1775L	CAD_ENST00000264705.4_Missense_Mutation_p.R1838L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAGACCCCGCCGTGGCATC	0.567																																																0													103	115	111					2																	27463149		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5324G>T	chr2.hg19:g.27463149G>T	ENSP00000384510:p.Arg1775Leu		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.79	3.220193	0.58560	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98313	-4.86;-4.8	5.28	5.28	0.74379	.	0.120124	0.53938	D	0.000045	D	0.95915	0.8670	L	0.39898	1.24	0.53005	D	0.999967	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.002	D	0.93894	0.7182	10	0.19590	T	0.45	-6.6265	16.4322	0.83853	0.0:0.0:1.0:0.0	.	1775;1838	F8VPD4;P27708	.;PYR1_HUMAN	L	1838;1775	ENSP00000264705:R1838L;ENSP00000384510:R1775L	ENSP00000264705:R1838L	R	+	2	0	CAD	27316653	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.863000	0.62983	2.474000	0.83562	0.555000	0.69702	CGC		0.567	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			T	27463149	G	T	27463149	3	4	33	1	0	0	0	0	1	0	0	0	2567	1087	38	4	5651	4	CAD	2	27463149	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10		27463149	215736224	8	2378											
BAZ2B	29994	hgsc.bcm.edu	37	2	160289719	160289719	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr2:160289719G>C	ENST00000392783.2	-	9	1944	c.1449C>G	c.(1447-1449)ttC>ttG	p.F483L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.F481L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.F483L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.F481L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATTTGTCAAGAATGGATTTG	0.383																																																0													320	294	302					2																	160289719		1859	4096	5955	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1449C>G	chr2.hg19:g.160289719G>C	ENSP00000376534:p.Phe483Leu		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	hg19	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775924	0.49786	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.78	0.8	0.18672	.	0.000000	0.38720	U	0.001589	D	0.89188	0.6644	L	0.60455	1.87	0.42787	D	0.993881	D;P;P;P;P	0.58268	0.982;0.936;0.762;0.936;0.894	D;P;B;P;B	0.68943	0.961;0.64;0.391;0.64;0.437	D	0.84632	0.0690	10	0.22109	T	0.4	-9.1949	10.1708	0.42908	0.3245:0.0:0.6755:0.0	.	483;287;481;481;483	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	L	481;483;483;481;420	ENSP00000376533:F481L;ENSP00000376534:F483L;ENSP00000348087:F483L;ENSP00000339670:F481L	ENSP00000339670:F481L	F	-	3	2	BAZ2B	159997965	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.715000	0.47210	0.086000	0.17137	0.655000	0.94253	TTC		0.383	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			C	160289719	G	C	160289719	3	2	33	1	0	0	0	0	1	0	0	0	1332	933	33	4	5173	4	BAZ2B	2	160289719	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	132826570	160289719	82909654	9	2379											
CD302	9936	hgsc.bcm.edu	37	2	160634461	160634461	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr2:160634461T>C	ENST00000259053.4	-	5	527	c.484A>G	c.(484-486)Aaa>Gaa	p.K162E	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K1747E|LY75_ENST00000554112.1_Missense_Mutation_p.K1803E|CD302_ENST00000429078.2_Missense_Mutation_p.K104E|CD302_ENST00000480212.1_5'UTR|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K1803E|LY75_ENST00000553424.1_Missense_Mutation_p.K1747E	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	162					phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GATAAATATTTCCTTTTGTAT	0.219																																																0													9	10	10					2																	160634461		1861	3919	5780	SO:0001583	missense	100526664			AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"CD molecules", "C-type lectin domain containing"	30843	protein-coding gene	gene with protein product	"C-type lectin domain family 13, member A"	612246	"CD302 antigen"			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.484A>G	chr2.hg19:g.160634461T>C	ENSP00000259053:p.Lys162Glu		A8K5G4|B4E2T9|Q15009	Missense_Mutation	SNP	ENST00000259053.4	hg19	CCDS33308.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329012	0.60743	.	.	ENSG00000241399;ENSG00000241399;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000259053;ENST00000429078;ENST00000554112;ENST00000553424;ENST00000504764;ENST00000505052	T;T;T;T;T;T	0.19105	3.24;2.17;3.01;3.0;3.01;3.0	5.39	5.39	0.77823	.	0.403394	0.25305	N	0.031623	T	0.19725	0.0474	L	0.27053	0.805	0.24410	N	0.994667	D;P;P;B	0.55172	0.97;0.884;0.932;0.172	P;P;P;B	0.48571	0.543;0.503;0.582;0.05	T	0.10019	-1.0648	10	0.27082	T	0.32	-0.1735	12.084	0.53688	0.0:0.0:0.0:1.0	.	104;1747;1803;162	B4E2T9;O60449-3;O60449-2;Q8IX05	.;.;.;CD302_HUMAN	E	162;104;1803;1747;1803;1747	ENSP00000259053:K162E;ENSP00000394301:K104E;ENSP00000451511:K1803E;ENSP00000451446:K1747E;ENSP00000423463:K1803E;ENSP00000421035:K1747E	ENSP00000259053:K162E	K	-	1	0	LY75;CD302;LY75-CD302	160342707	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	1.390000	0.34464	2.174000	0.68829	0.454000	0.30748	AAA		0.219	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		C	160634461	T	C	160634461	3	2	33	1	0	0	0	0	1	0	0	0	3005	1792	62	3	222	3	CD302	2	160634461	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	344742	160634461	82564912	10	2380											
ABCB11	8647	hgsc.bcm.edu	37	2	169787177	169787177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr2:169787177delC	ENST00000263817.6	-	25	3533	c.3409delG	c.(3409-3411)gtgfs	p.V1137fs		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1137	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGGCTTACCACCTTCCCTTGA	0.463																																																0													68	63	65					2																	169787177		1974	4152	6126	SO:0001589	frameshift_variant	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3409delG	chr2.hg19:g.169787177delC	ENSP00000263817:p.Val1137fs		Q53TL2|Q9UNB2	Frame_Shift_Del	DEL	ENST00000263817.6	hg19	CCDS46444.1																																																																																				0.463	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		-	169787177	C	-	169787177	7	5	33	1	0	1	0	1	0	0	0	0	42	507	18	0	572	0	ABCB11	2	169787177	Frame_Shift_Del	DEL	C	TCGA-5P-A9K2-01A-11D-A42J-10	9152716	169787177	73412196	11	2381											
ITGAV	3685	hgsc.bcm.edu	37	2	187466865	187466865	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr2:187466865A>C	ENST00000261023.3	+	2	577	c.303A>C	c.(301-303)gaA>gaC	p.E101D	ITGAV_ENST00000374907.3_Missense_Mutation_p.E101D|ITGAV_ENST00000433736.2_Missense_Mutation_p.E55D	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	101					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	AGCCAATTGAATTTGATGCAA	0.408																																					Melanoma(58;108 1995 6081)											0													51	52	52					2																	187466865		2203	4300	6503	SO:0001583	missense	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.303A>C	chr2.hg19:g.187466865A>C	ENSP00000261023:p.Glu101Asp		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	hg19	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.731766	0.30684	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.02916	4.11;4.11;4.11	5.15	-1.41	0.08941	.	0.638947	0.16335	N	0.218968	T	0.01765	0.0056	N	0.25201	0.72	0.30054	N	0.811519	B;B;B	0.31125	0.201;0.037;0.309	B;B;B	0.23852	0.049;0.033;0.049	T	0.46775	-0.9167	10	0.18710	T	0.47	.	9.1659	0.37052	0.5777:0.0:0.4223:0.0	.	55;101;101	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	D	101;101;101;55	ENSP00000261023:E101D;ENSP00000364042:E101D;ENSP00000404291:E55D	ENSP00000261023:E101D	E	+	3	2	ITGAV	187175110	0.924000	0.31332	0.996000	0.52242	0.992000	0.81027	-0.040000	0.12104	-0.253000	0.09514	0.533000	0.62120	GAA		0.408	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		C	187466865	A	C	187466865	3	2	33	1	0	0	0	0	1	0	0	0	7890	98	4	5	360	5	ITGAV	2	187466865	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10	17679688	187466865	55732508	12	2382											
SF3B1	23451	hgsc.bcm.edu	37	2	198270054	198270054	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr2:198270054G>T	ENST00000335508.6	-	10	1473	c.1382C>A	c.(1381-1383)tCt>tAt	p.S461Y	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	461	Interaction with PPP1R8.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGATTTCCAGATGGCTGGTC	0.363			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													56	58	57					2																	198270054		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1382C>A	chr2.hg19:g.198270054G>T	ENSP00000335321:p.Ser461Tyr		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	hg19	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311427	0.60414	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	N	0.02011	-0.69	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17592	-1.0364	9	0.24483	T	0.36	.	19.6287	0.95691	0.0:0.0:1.0:0.0	.	461	O75533	SF3B1_HUMAN	Y	461	.	ENSP00000335321:S461Y	S	-	2	0	SF3B1	197978299	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.665000	0.98609	2.710000	0.92621	0.655000	0.94253	TCT		0.363	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			T	198270054	G	T	198270054	3	4	33	1	0	0	0	0	1	0	0	0	14155	942	33	4	2596	4	SF3B1	2	198270054	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	10803189	198270054	44929319	13	2383											
AGFG1	3267	hgsc.bcm.edu	37	2	228356286	228356286	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr2:228356286G>T	ENST00000310078.8	+	2	451	c.191G>T	c.(190-192)aGg>aTg	p.R64M	AGFG1_ENST00000373671.3_Missense_Mutation_p.R64M|AGFG1_ENST00000409315.1_Missense_Mutation_p.R64M|AGFG1_ENST00000409171.1_Missense_Mutation_p.R64M|AGFG1_ENST00000409979.2_Missense_Mutation_p.R64M	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	64	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CCACCACACAGGGTGAAATCT	0.279																																																0													87	96	93					2																	228356286		2202	4297	6499	SO:0001583	missense	3267				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.191G>T	chr2.hg19:g.228356286G>T	ENSP00000312059:p.Arg64Met		B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	hg19	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918260	0.92249	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.93939	3.475	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.996;1.0	D;D;D;D	0.79784	0.993;0.958;0.938;0.985	T	0.80892	-0.1179	10	0.87932	D	0	.	19.1077	0.93303	0.0:0.0:1.0:0.0	.	64;64;64;64	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	M	64;49;64;64;64;64	ENSP00000387282:R64M;ENSP00000312059:R64M;ENSP00000387154:R64M;ENSP00000362775:R64M;ENSP00000387218:R64M	ENSP00000312059:R64M	R	+	2	0	AGFG1	228064530	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.011000	0.93618	2.814000	0.96858	0.563000	0.77884	AGG		0.279	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		T	228356286	G	T	228356286	3	4	33	1	0	0	0	0	1	0	0	0	380	1000	35	4	197	4	AGFG1	2	228356286	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	30086232	228356286	14843087	14	2384											
IP6K2	51447	hgsc.bcm.edu	37	3	48727116	48727116	+	Missense_Mutation	SNP	C	C	T	rs372776558		TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr3:48727116C>T	ENST00000328631.5	-	5	858	c.635G>A	c.(634-636)cGc>cAc	p.R212H		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	212					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CACCTCGTAGCGGGAAGTCAG	0.478																																																0													126	107	113					3																	48727116		2203	4300	6503	SO:0001583	missense	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.635G>A	chr3.hg19:g.48727116C>T	ENSP00000331103:p.Arg212His		A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	hg19	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951641	0.53186	.	.	ENSG00000068745	ENST00000328631	T	0.14144	2.53	5.73	5.73	0.89815	.	0.262087	0.43260	D	0.000582	T	0.25457	0.0619	L	0.31157	0.91	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.02625	-1.1132	10	0.14656	T	0.56	-22.2326	19.8966	0.96963	0.0:1.0:0.0:0.0	.	212	Q9UHH9	IP6K2_HUMAN	H	212	ENSP00000331103:R212H	ENSP00000331103:R212H	R	-	2	0	IP6K2	48702120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.285000	0.51716	2.700000	0.92200	0.655000	0.94253	CGC		0.478	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		T	48727116	C	T	48727116	3	4	33	1	0	0	0	0	1	0	0	0	7791	768	27	1	653	1	IP6K2	3	48727116	Missense_Mutation	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10		48727116	149295314	15	2385											
DOCK3	1795	hgsc.bcm.edu	37	3	51251577	51251577	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr3:51251577T>C	ENST00000266037.9	+	14	1174	c.1151T>C	c.(1150-1152)cTt>cCt	p.L384P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	384					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTGCAGCTTCTTCGTGGAGAC	0.373																																																0													97	93	94					3																	51251577		1868	4127	5995	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1151T>C	chr3.hg19:g.51251577T>C	ENSP00000266037:p.Leu384Pro		O15017	Missense_Mutation	SNP	ENST00000266037.9	hg19	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353420	0.82243	.	.	ENSG00000088538	ENST00000266037	T	0.08896	3.04	5.35	5.35	0.76521	.	0.059841	0.64402	D	0.000003	T	0.37919	0.1021	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48948	-0.8989	10	0.87932	D	0	.	15.6362	0.76953	0.0:0.0:0.0:1.0	.	384	Q8IZD9	DOCK3_HUMAN	P	384	ENSP00000266037:L384P	ENSP00000266037:L384P	L	+	2	0	DOCK3	51226617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.483000	0.81158	2.155000	0.67459	0.533000	0.62120	CTT		0.373	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		C	51251577	T	C	51251577	3	2	33	1	0	0	0	0	1	0	0	0	4690	1609	56	3	1205	3	DOCK3	3	51251577	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	2524461	51251577	146770853	16	2386											
CCDC48	79825	hgsc.bcm.edu	37	3	128720759	128720759	+	Silent	SNP	C	C	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr3:128720759C>A	ENST00000480450.1	+	1	288	c.288C>A	c.(286-288)gcC>gcA	p.A96A	KIAA1257_ENST00000510149.1_Intron|EFCC1_ENST00000436022.2_5'UTR			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	96							calcium ion binding (GO:0005509)										CCACCACGGCCGGGCAGGCAG	0.731																																																0													4	9	7					3																	128720759		615	1457	2072	SO:0001819	synonymous_variant	79825			AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.288C>A	chr3.hg19:g.128720759C>A			A8MYE2	Silent	SNP	ENST00000480450.1	hg19	CCDS3054.2																																																																																				0.731	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		A	128720759	C	A	128720759	2	1	33	1	0	0	0	0	0	0	0	1	2821	639	23	4		4	CCDC48	3	128720759	Silent	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10	77469182	128720759	69301671	17	2387											
IGSF10	285313	hgsc.bcm.edu	37	3	151163860	151163860	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr3:151163860G>T	ENST00000282466.3	-	4	3908	c.3909C>A	c.(3907-3909)agC>agA	p.S1303R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1303					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGAGTCTTTGCTTATAATAC	0.438																																																0													280	258	266					3																	151163860		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3909C>A	chr3.hg19:g.151163860G>T	ENSP00000282466:p.Ser1303Arg		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	hg19	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803834	0.16467	.	.	ENSG00000152580	ENST00000282466	T	0.69561	-0.41	4.62	2.79	0.32731	.	0.256644	0.26879	N	0.022028	T	0.48040	0.1478	N	0.20986	0.625	0.09310	N	1	B	0.18013	0.025	B	0.17722	0.019	T	0.27872	-1.0061	10	0.23891	T	0.37	.	9.3524	0.38147	0.0777:0.0:0.7791:0.1432	.	1303	Q6WRI0	IGS10_HUMAN	R	1303	ENSP00000282466:S1303R	ENSP00000282466:S1303R	S	-	3	2	IGSF10	152646550	0.000000	0.05858	0.047000	0.18901	0.016000	0.09150	0.760000	0.26475	0.477000	0.27464	0.591000	0.81541	AGC		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151163860	G	T	151163860	3	4	33	1	0	0	0	0	1	0	0	0	7599	1310	46	4	4022	4	IGSF10	3	151163860	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	22443101	151163860	46858570	18	2388											
FRYL	285527	hgsc.bcm.edu	37	4	48581047	48581047	+	Missense_Mutation	SNP	T	T	C	rs544935208		TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr4:48581047T>C	ENST00000503238.1	-	20	2470	c.2471A>G	c.(2470-2472)tAt>tGt	p.Y824C	FRYL_ENST00000537810.1_Missense_Mutation_p.Y824C|FRYL_ENST00000507711.1_Missense_Mutation_p.Y824C|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.Y824C			O94915	FRYL_HUMAN	FRY-like	824					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CATCCAAGCATAGCTCACAGC	0.378													T|||	1	0.000199681	0.0	0.0014	5008	,	,		18848	0.0		0.0	False		,,,				2504	0.0															0													115	106	109					4																	48581047		1846	4094	5940	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2471A>G	chr4.hg19:g.48581047T>C	ENSP00000426064:p.Tyr824Cys		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	hg19	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239029	0.79800	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.46451	1.86;1.86;1.86;0.87	6.05	6.05	0.98169	.	0.000000	0.64402	U	0.000002	T	0.64148	0.2572	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.975	T	0.63699	-0.6578	10	0.44086	T	0.13	.	16.5993	0.84807	0.0:0.0:0.0:1.0	.	824;824	F2Z2S2;O94915	.;FRYL_HUMAN	C	824	ENSP00000426064:Y824C;ENSP00000351113:Y824C;ENSP00000441114:Y824C;ENSP00000421584:Y824C	ENSP00000351113:Y824C	Y	-	2	0	FRYL	48275804	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.949000	0.70257	2.311000	0.77944	0.528000	0.53228	TAT		0.378	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			C	48581047	T	C	48581047	3	2	33	1	0	0	0	0	1	0	0	0	6066	1406	49	3	6738	3	FRYL	4	48581047	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10		48581047	142573229	19	2389											
FIP1L1	81608	hgsc.bcm.edu	37	4	54248495	54248495	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr4:54248495C>G	ENST00000337488.6	+	4	415	c.221C>G	c.(220-222)cCa>cGa	p.P74R	FIP1L1_ENST00000507922.1_Missense_Mutation_p.P59R|FIP1L1_ENST00000507166.1_Missense_Mutation_p.P74R|FIP1L1_ENST00000358575.5_Missense_Mutation_p.P59R|FIP1L1_ENST00000306932.6_Missense_Mutation_p.P59R|FIP1L1_ENST00000510668.1_3'UTR	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	74	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AATGGTGTACCAAAACCGGTA	0.358			T	PDGFRA	idiopathic hypereosinophilic syndrome																																		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0													154	140	145					4																	54248495		2203	4300	6503	SO:0001583	missense	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.221C>G	chr4.hg19:g.54248495C>G	ENSP00000336752:p.Pro74Arg		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	hg19	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494563	0.26774	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.76968	-1.06	5.48	4.63	0.57726	.	0.519843	0.18037	N	0.153726	T	0.55816	0.1944	N	0.08118	0	0.25163	N	0.990332	B;B;B;P	0.36282	0.071;0.018;0.083;0.546	B;B;B;B	0.38954	0.285;0.034;0.027;0.286	T	0.46470	-0.9189	10	0.16420	T	0.52	-2.5771	5.3271	0.15913	0.1739:0.672:0.0:0.1541	.	59;59;74;59	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	R	74;59;59;59;74	ENSP00000423325:P74R	ENSP00000302993:P59R	P	+	2	0	FIP1L1	53943252	0.926000	0.31397	0.995000	0.50966	0.989000	0.77384	1.814000	0.38972	1.279000	0.44446	0.655000	0.94253	CCA		0.358	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		G	54248495	C	G	54248495	3	3	33	1	0	0	0	0	1	0	0	0	5898	594	21	4	235	4	FIP1L1	4	54248495	Missense_Mutation	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10	5667448	54248495	136905781	20	2390											
PRDM5	11107	hgsc.bcm.edu	37	4	121828665	121828665	+	Silent	SNP	G	G	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr4:121828665G>A	ENST00000264808.3	-	2	381	c.141C>T	c.(139-141)gaC>gaT	p.D47D	PRDM5_ENST00000515109.1_Silent_p.D47D|PRDM5_ENST00000394435.2_Silent_p.D47D|PRDM5_ENST00000428209.2_Silent_p.D47D	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	47	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTTCATCCAAGTCTTCAGGCA	0.328																																																0													153	152	152					4																	121828665		2203	4300	6503	SO:0001819	synonymous_variant	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.141C>T	chr4.hg19:g.121828665G>A			Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	hg19	CCDS3716.1																																																																																				0.328	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			A	121828665	G	A	121828665	2	1	33	1	0	0	0	0	0	0	0	1	12465	1020	36	2		2	PRDM5	4	121828665	Silent	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	67580170	121828665	69325611	21	2391											
TRPC3	7222	hgsc.bcm.edu	37	4	122825529	122825529	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr4:122825529A>T	ENST00000379645.3	-	8	2274	c.2201T>A	c.(2200-2202)gTt>gAt	p.V734D	TRPC3_ENST00000513531.1_Missense_Mutation_p.V606D|TRPC3_ENST00000264811.5_Missense_Mutation_p.V661D	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	649					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTTGAGTAAAACGACCACCAT	0.328																																																0													100	96	97					4																	122825529		2203	4299	6502	SO:0001583	missense	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2201T>A	chr4.hg19:g.122825529A>T	ENSP00000368966:p.Val734Asp		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	hg19	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668125	0.88348	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98849	-5.18;-5.18;-5.18	5.52	5.52	0.82312	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99378	0.9781	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.98652	1.0680	10	0.87932	D	0	-35.6827	15.9239	0.79597	1.0:0.0:0.0:0.0	.	649;606;734	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	D	661;734;606	ENSP00000264811:V661D;ENSP00000368966:V734D;ENSP00000426899:V606D	ENSP00000264811:V661D	V	-	2	0	TRPC3	123044979	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.174000	0.94824	2.207000	0.71202	0.533000	0.62120	GTT		0.328	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		T	122825529	A	T	122825529	3	4	33	1	0	0	0	0	1	0	0	0	16584	43	2	5	584	5	TRPC3	4	122825529	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10	996864	122825529	68328747	22	2392			1	5		2	2	16	A		3.876303e-05
TRPC3	7222	hgsc.bcm.edu	37	4	122825544	122825544	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr4:122825544A>T	ENST00000379645.3	-	8	2259	c.2186T>A	c.(2185-2187)gTa>gAa	p.V729E	TRPC3_ENST00000513531.1_Missense_Mutation_p.V601E|TRPC3_ENST00000264811.5_Missense_Mutation_p.V656E	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	644					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CACCATAGTTACATTGTATAT	0.328																																																0													96	92	93					4																	122825544		2203	4299	6502	SO:0001583	missense	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2186T>A	chr4.hg19:g.122825544A>T	ENSP00000368966:p.Val729Glu		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	hg19	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677827	0.88445	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98762	-5.12;-5.12;-5.12	5.52	5.52	0.82312	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99312	0.9759	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.80764	0.968;0.981;0.994	D	0.98934	1.0788	10	0.87932	D	0	-23.7439	15.9239	0.79597	1.0:0.0:0.0:0.0	.	644;601;729	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	E	656;729;601	ENSP00000264811:V656E;ENSP00000368966:V729E;ENSP00000426899:V601E	ENSP00000264811:V656E	V	-	2	0	TRPC3	123044994	1.000000	0.71417	0.988000	0.46212	0.941000	0.58515	9.174000	0.94824	2.207000	0.71202	0.533000	0.62120	GTA		0.328	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		T	122825544	A	T	122825544	3	4	33	1	0	0	0	0	1	0	0	0	16584	391	14	5	599	5	TRPC3	4	122825544	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10	15	122825544	68328732	23	2393			1	5		2	2	16	A		3.876303e-05
FAM198B	51313	hgsc.bcm.edu	37	4	159092466	159092466	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr4:159092466G>A	ENST00000296530.8	-	2	683	c.62C>T	c.(61-63)cCg>cTg	p.P21L	FAM198B_ENST00000592057.1_Missense_Mutation_p.P21L|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.P21L|RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.P21L	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	21						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ACGCACCCGCGGGACGCACAG	0.587																																																0													41	41	41					4																	159092466		2201	4299	6500	SO:0001583	missense	51313				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.62C>T	chr4.hg19:g.159092466G>A	ENSP00000296530:p.Pro21Leu		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	hg19	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055019	0.36277	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.31510	1.5;1.49	5.31	3.57	0.40892	.	0.540389	0.20073	N	0.099828	T	0.25457	0.0619	L	0.54323	1.7	0.21967	N	0.999447	B;B;B	0.32968	0.392;0.068;0.028	B;B;B	0.28232	0.087;0.012;0.012	T	0.24548	-1.0157	10	0.87932	D	0	-0.7468	6.6971	0.23205	0.1449:0.0:0.71:0.145	.	21;21;21	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	L	21	ENSP00000296530:P21L;ENSP00000377396:P21L	ENSP00000296530:P21L	P	-	2	0	FAM198B	159311916	0.990000	0.36364	0.275000	0.24674	0.855000	0.48748	2.335000	0.43929	0.799000	0.34018	0.655000	0.94253	CCG		0.587	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		A	159092466	G	A	159092466	3	1	33	1	0	0	0	0	1	0	0	0	5531	1116	39	1	1618	1	FAM198B	4	159092466	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	36266922	159092466	32061810	24	2394											
CDKN2AIP	55602	hgsc.bcm.edu	37	4	184366090	184366090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr4:184366090delC	ENST00000504169.1	+	1	347	c.140delC	c.(139-141)gccfs	p.A47fs	CDKN2AIP_ENST00000510928.1_Frame_Shift_Del_p.A47fs|CDKN2AIP_ENST00000302350.4_Frame_Shift_Del_p.A47fs	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	47					negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGGGACCTGGCCCCCGCTGGC	0.687																																																0																																										SO:0001589	frameshift_variant	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.140delC	chr4.hg19:g.184366090delC	ENSP00000427108:p.Ala47fs		Q8TBM5|Q9NYH0	Frame_Shift_Del	DEL	ENST00000504169.1	hg19	CCDS34110.1																																																																																				0.687	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		-	184366090	C	-	184366090	7	5	33	1	0	1	0	1	0	0	0	0	3164	739	26	0	142	0	CDKN2AIP	4	184366090	Frame_Shift_Del	DEL	C	TCGA-5P-A9K2-01A-11D-A42J-10	25273624	184366090	6788186	25	2395											
FAM81B	153643	hgsc.bcm.edu	37	5	94783981	94783981	+	Silent	SNP	T	T	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr5:94783981T>C	ENST00000283357.5	+	9	1084	c.1038T>C	c.(1036-1038)tcT>tcC	p.S346S		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	346						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGGAAAAGTCTGAAAATAAAA	0.294																																																0													44	40	41					5																	94783981		1799	4069	5868	SO:0001819	synonymous_variant	153643				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.1038T>C	chr5.hg19:g.94783981T>C				Silent	SNP	ENST00000283357.5	hg19	CCDS43341.1																																																																																				0.294	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		C	94783981	T	C	94783981	2	2	33	1	0	0	0	0	0	0	0	1	5631	1567	55	3		3	FAM81B	5	94783981	Silent	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10		94783981	86131279	26	2396											
GRAMD3	65983	hgsc.bcm.edu	37	5	125808993	125808993	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr5:125808993A>G	ENST00000285689.3	+	5	880	c.419A>G	c.(418-420)cAa>cGa	p.Q140R	GRAMD3_ENST00000542322.1_Missense_Mutation_p.Q148R|GRAMD3_ENST00000513040.1_Missense_Mutation_p.Q155R|GRAMD3_ENST00000543198.1_Missense_Mutation_p.Q117R|GRAMD3_ENST00000544396.1_Missense_Mutation_p.Q36R|GRAMD3_ENST00000511134.1_Missense_Mutation_p.Q124R|GRAMD3_ENST00000502348.1_Missense_Mutation_p.Q31R|GRAMD3_ENST00000515200.1_Missense_Mutation_p.Q117R|RP11-517I3.1_ENST00000515808.1_RNA	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	140	GRAM.					cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ATACTATACCAAGGAAAGCTC	0.328																																																0													54	59	57					5																	125808993		2202	4299	6501	SO:0001583	missense	65983			BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"HCV NS3 transactivated protein 2"					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.419A>G	chr5.hg19:g.125808993A>G	ENSP00000285689:p.Gln140Arg		B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	hg19	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.989266	0.93106	.	.	ENSG00000155324	ENST00000513040;ENST00000506445;ENST00000543367;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	D;D;D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	6.04	6.04	0.98038	GRAM (2);	0.047859	0.85682	D	0.000000	D	0.95608	0.8572	H	0.95679	3.705	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;D;D;D;D	0.97110	0.998;1.0;1.0;0.994;0.998	D	0.96686	0.9507	10	0.72032	D	0.01	.	16.2378	0.82389	1.0:0.0:0.0:0.0	.	124;36;148;155;140	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	R	155;154;124;140;117;148;36;117;31;124	ENSP00000426120:Q155R;ENSP00000424985:Q154R;ENSP00000285689:Q140R;ENSP00000426143:Q117R;ENSP00000441876:Q148R;ENSP00000444049:Q36R;ENSP00000442902:Q117R;ENSP00000427596:Q31R;ENSP00000426088:Q124R	ENSP00000285689:Q140R	Q	+	2	0	GRAMD3	125836892	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.224000	0.95209	2.317000	0.78254	0.459000	0.35465	CAA		0.328	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927		G	125808993	A	G	125808993	3	3	33	1	0	0	0	0	1	0	0	0	6753	130	5	3	651	3	GRAMD3	5	125808993	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10	31025012	125808993	55106267	27	2397											
RREB1	6239	hgsc.bcm.edu	37	6	7249194	7249198	+	Frame_Shift_Del	DEL	TGGAG	TGGAG	-			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	TGGAG	TGGAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr6:7249194_7249198delTGGAG	ENST00000349384.6	+	12	5371_5375	c.5057_5061delTGGAG	c.(5056-5061)atggagfs	p.ME1686fs	RREB1_ENST00000334984.6_Frame_Shift_Del_p.ME1475fs|RREB1_ENST00000379938.2_Frame_Shift_Del_p.ME1741fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.ME1686fs	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1686					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCGTGGGGATGGAGTGACAGCCTC	0.634																																																0																																										SO:0001589	frameshift_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.5057_5061delTGGAG	chr6.hg19:g.7249194_7249198delTGGAG	ENSP00000305560:p.Met1686fs		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Frame_Shift_Del	DEL	ENST00000349384.6	hg19	CCDS34336.1																																																																																				0.634	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			-	7249198	TGGAG	-	7249194	7	5	33	1	0	1	0	1	0	0	0	0	13685	1464	51	0	5260	0	RREB1	6	7249194	Frame_Shift_Del	DEL	TGGAG	TCGA-5P-A9K2-01A-11D-A42J-10		7249194	163865873	28	2398											
ZNF184	7738	hgsc.bcm.edu	37	6	27420389	27420389	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr6:27420389G>T	ENST00000211936.6	-	6	1233	c.949C>A	c.(949-951)Cag>Aag	p.Q317K	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q317K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	317					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(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGGGTCCTCTGACTAAAGGCT	0.413																																																0													52	53	53					6																	27420389		2203	4300	6503	SO:0001583	missense	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.949C>A	chr6.hg19:g.27420389G>T	ENSP00000211936:p.Gln317Lys		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	hg19	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566236	0.45694	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	T;T	0.07327	3.2;3.2	4.99	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000405	T	0.01387	0.0045	N	0.12637	0.245	0.32231	N	0.574014	P	0.50710	0.938	B	0.34590	0.186	T	0.52449	-0.8574	10	0.24483	T	0.36	.	9.5393	0.39242	0.0989:0.0:0.9011:0.0	.	317	Q99676	ZN184_HUMAN	K	317;317;317;5	ENSP00000211936:Q317K;ENSP00000366636:Q317K	ENSP00000211936:Q317K	Q	-	1	0	ZNF184	27528368	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-0.289000	0.08365	2.591000	0.87537	0.455000	0.32223	CAG		0.413	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		T	27420389	G	T	27420389	3	4	33	1	0	0	0	0	1	0	0	0	17756	1299	45	4	1310	4	ZNF184	6	27420389	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	20171195	27420389	143694678	29	2399											
HLA-C	3107	hgsc.bcm.edu	37	6	31239839	31239839	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr6:31239839T>C	ENST00000376228.5	-	1	24	c.10A>G	c.(10-12)Atg>Gtg	p.M4V	HLA-C_ENST00000383329.3_Missense_Mutation_p.M4V	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	4					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGGGGCGCCATGACCCGCATC	0.667																																																0													18	19	19					6																	31239839		1511	2709	4220	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.10A>G	chr6.hg19:g.31239839T>C	ENSP00000365402:p.Met4Val		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	hg19	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	3.391|3.391	-0.124293|-0.124293	0.06795|0.06795	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00730	.|5.78;5.77	2.38|2.38	-0.236|-0.236	0.13067|0.13067	.|.	.|.	.|.	.|.	.|.	T|T	0.00440|0.00440	0.0014|0.0014	M|M	0.78456|0.78456	2.415|2.415	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.11235	.|0.003;0.001;0.003;0.004	.|B;B;B;B	.|0.19391	.|0.019;0.011;0.011;0.025	T|T	0.42189|0.42189	-0.9466|-0.9466	5|9	.|0.66056	.|D	.|0.02	.|.	2.6949|2.6949	0.05132|0.05132	0.0:0.1644:0.2772:0.5584|0.0:0.1644:0.2772:0.5584	.|.	.|4;4;4;4	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	R|V	3|4	.|ENSP00000365402:M4V;ENSP00000372819:M4V	.|ENSP00000365402:M4V	H|M	-|-	2|1	0|0	HLA-C|HLA-C	31347818|31347818	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	-0.065000|-0.065000	0.11617|0.11617	-0.041000|-0.041000	0.13558|0.13558	0.254000|0.254000	0.18369|0.18369	CAT|ATG		0.667	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		C	31239839	T	C	31239839	3	2	33	1	0	0	0	0	1	0	0	0	7199	1464	51	3	1122	3	HLA-C	6	31239839	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	3819450	31239839	139875228	30	2400											
KLC4	89953	hgsc.bcm.edu	37	6	43039962	43039962	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr6:43039962T>A	ENST00000394056.2	+	13	1952	c.1457T>A	c.(1456-1458)cTg>cAg	p.L486Q	KLC4_ENST00000347162.5_Missense_Mutation_p.L486Q|KLC4_ENST00000259708.3_Missense_Mutation_p.L504Q|KLC4_ENST00000394058.1_Missense_Mutation_p.L486Q|KLC4_ENST00000453940.2_Missense_Mutation_p.L409Q|KLC4_ENST00000479388.1_Missense_Mutation_p.L486Q|RP11-387M24.5_ENST00000606123.1_RNA			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	486						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GCTGAGACCCTGGAGGAATGT	0.602																																																0													62	68	66					6																	43039962		2203	4300	6503	SO:0001583	missense	89953			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1457T>A	chr6.hg19:g.43039962T>A	ENSP00000377620:p.Leu486Gln		B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	hg19	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	T	32	5.142869	0.94560	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	D;T;D;D;D;D	0.83506	-1.73;1.13;-1.73;-1.73;-1.73;-1.73	6.04	6.04	0.98038	Tetratricopeptide-like helical (1);	0.000000	0.47852	D	0.000205	D	0.90573	0.7045	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.998	D	0.91944	0.5565	10	0.87932	D	0	-20.1899	16.5763	0.84648	0.0:0.0:0.0:1.0	.	409;504;486	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	Q	486;409;504;486;486;486	ENSP00000340221:L486Q;ENSP00000395806:L409Q;ENSP00000259708:L504Q;ENSP00000418031:L486Q;ENSP00000377620:L486Q;ENSP00000377622:L486Q	ENSP00000259708:L504Q	L	+	2	0	KLC4	43147940	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	CTG		0.602	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		A	43039962	T	A	43039962	3	1	33	1	0	0	0	0	1	0	0	0	8338	1580	55	5	1626	5	KLC4	6	43039962	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	11800123	43039962	128075105	31	2401											
RIMS1	22999	hgsc.bcm.edu	37	6	72892828	72892828	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr6:72892828G>C	ENST00000521978.1	+	6	1654	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	RIMS1_ENST00000491071.2_Missense_Mutation_p.E552Q|RIMS1_ENST00000264839.7_Missense_Mutation_p.E552Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.E552Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.E552Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.E552Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.E552Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.E552Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	552					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CGTGGAGCTGGAGAGCGAGAG	0.657																																																0													8	9	8					6																	72892828		2004	4128	6132	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1654G>C	chr6.hg19:g.72892828G>C	ENSP00000428417:p.Glu552Gln		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	hg19	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.33|16.33	3.092994|3.092994	0.56075|0.56075	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978|ENST00000517433	T;T;T;T;T;T;T;T|.	0.18016|.	2.24;2.37;2.3;2.38;2.36;2.37;2.37;2.29|.	4.05|4.05	3.15|3.15	0.36227|0.36227	.|.	0.000000|.	0.64402|.	D|.	0.000013|.	T|T	0.59514|0.59514	0.2199|0.2199	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30114|.	0.269;0.062;0.22|.	B;B;B|.	0.30105|.	0.111;0.029;0.05|.	T|T	0.60419|0.60419	-0.7267|-0.7267	10|5	0.72032|.	D|.	0.01|.	0.0102|0.0102	13.3578|13.3578	0.60638|0.60638	0.0:0.1599:0.8401:0.0|0.0:0.1599:0.8401:0.0	.|.	552;552;552|.	E9PHR1;C9JNW6;Q86UR5|.	.;.;RIMS1_HUMAN|.	Q|A	552|125	ENSP00000430101:E552Q;ENSP00000275037:E552Q;ENSP00000264839:E552Q;ENSP00000429959:E552Q;ENSP00000430408:E552Q;ENSP00000430502:E552Q;ENSP00000430932:E552Q;ENSP00000428417:E552Q|.	ENSP00000264839:E552Q|.	E|G	+|+	1|2	0|0	RIMS1|RIMS1	72949549|72949549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.414000|9.414000	0.97362|0.97362	0.633000|0.633000	0.30452|0.30452	0.455000|0.455000	0.32223|0.32223	GAG|GGA		0.657	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			C	72892828	G	C	72892828	3	2	33	1	0	0	0	0	1	0	0	0	13373	1175	41	4	1676	4	RIMS1	6	72892828	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	29852866	72892828	98222239	32	2402											
POU3F2	5454	hgsc.bcm.edu	37	6	99283832	99283832	+	Silent	SNP	C	C	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr6:99283832C>A	ENST00000328345.5	+	1	1253	c.1083C>A	c.(1081-1083)atC>atA	p.I361I		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	361					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGACCTCCATCGAGGTGAGCG	0.617																																																0													65	73	70					6																	99283832		2203	4300	6503	SO:0001819	synonymous_variant	5454			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1083C>A	chr6.hg19:g.99283832C>A			Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	hg19	CCDS5040.1																																																																																				0.617	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			A	99283832	C	A	99283832	2	1	33	1	0	0	0	0	0	0	0	1	12277	874	31	4		4	POU3F2	6	99283832	Silent	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10	26391004	99283832	71831235	33	2403											
SYNE1	23345	hgsc.bcm.edu	37	6	152470766	152470766	+	Missense_Mutation	SNP	A	A	C	rs139643725		TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr6:152470766A>C	ENST00000367255.5	-	136	25089	c.24488T>G	c.(24487-24489)aTt>aGt	p.I8163S	SYNE1_ENST00000354674.4_Missense_Mutation_p.I318S|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.I8092S|SYNE1_ENST00000341594.5_Missense_Mutation_p.I7775S|SYNE1_ENST00000265368.4_Missense_Mutation_p.I8163S|SYNE1_ENST00000423061.1_Missense_Mutation_p.I8092S|SYNE1_ENST00000539504.1_Missense_Mutation_p.I318S|SYNE1_ENST00000356820.4_Missense_Mutation_p.I2687S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8163					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCTGCTCAATCTTATTGTG	0.433										HNSCC(10;0.0054)																																						0													103	102	102					6																	152470766		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24488T>G	chr6.hg19:g.152470766A>C	ENSP00000356224:p.Ile8163Ser		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	28.0	4.878417	0.91740	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000013	T	0.63450	0.2512	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.994	D;D;D;D;D	0.77004	0.984;0.989;0.982;0.989;0.965	T	0.67952	-0.5537	10	0.87932	D	0	.	16.2453	0.82441	1.0:0.0:0.0:0.0	.	8163;8163;8092;8092;365	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	S	8163;318;809;8092;8163;8092;7775;2687;325;320;1085;318	ENSP00000356224:I8163S;ENSP00000441052:I318S;ENSP00000356226:I809S;ENSP00000396024:I8092S;ENSP00000265368:I8163S;ENSP00000390975:I8092S;ENSP00000341887:I7775S;ENSP00000349276:I2687S;ENSP00000356220:I1085S;ENSP00000346701:I318S	ENSP00000265368:I8163S	I	-	2	0	SYNE1	152512459	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	9.108000	0.94275	2.241000	0.73720	0.533000	0.62120	ATT		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152470766	A	C	152470766	3	2	33	1	0	0	0	0	1	0	0	0	15450	101	4	5	2022	5	SYNE1	6	152470766	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10	53186934	152470766	18644301	34	2404											
TBP	6908	hgsc.bcm.edu	37	6	170871004	170871004	+	Silent	SNP	G	G	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000230354.6_Silent_p.Q60Q|TBP_ENST00000540980.1_Silent_p.Q40Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		Ggcagcagcagcaacaacaac	0.542																																																0													43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	chr6.hg19:g.170871004G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	hg19	CCDS5315.1																																																																																				0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871004	G	A	170871004	2	1	33	1	0	0	0	0	0	0	0	1	15649	962	34	2		2	TBP	6	170871004	Silent	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	18400238	170871004	244063	35	2405											
DDC	1644	hgsc.bcm.edu	37	7	50544331	50544331	+	Silent	SNP	A	A	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr7:50544331A>G	ENST00000444124.2	-	11	1232	c.1032T>C	c.(1030-1032)acT>acC	p.T344T	DDC_ENST00000431062.1_Silent_p.T251T|DDC_ENST00000357936.5_Silent_p.T344T|DDC_ENST00000426377.1_Silent_p.T266T	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	344					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CCCGGTAGTCAGTGATAAGCC	0.448																																																0													66	63	64					7																	50544331		2203	4300	6503	SO:0001819	synonymous_variant	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1032T>C	chr7.hg19:g.50544331A>G			C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	hg19	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	A	7.728	0.698663	0.15106	.	.	ENSG00000132437	ENST00000430300	.	.	.	5.4	-1.93	0.07594	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29427	-1.0012	4	.	.	.	-0.6052	2.1317	0.03752	0.3061:0.4032:0.16:0.1307	.	.	.	.	P	225	.	.	L	-	2	0	DDC	50511825	0.242000	0.23868	0.997000	0.53966	0.675000	0.39556	-0.925000	0.03992	-0.142000	0.11354	0.528000	0.53228	CTG		0.448	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			G	50544331	A	G	50544331	2	3	33	1	0	0	0	0	0	0	0	1	4327	175	7	3		3	DDC	7	50544331	Silent	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10		50544331	108594332	36	2406											
ZNF394	84124	hgsc.bcm.edu	37	7	99092213	99092213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr7:99092213G>A	ENST00000337673.6	-	3	828	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	209	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAATTTGTTGCATTGGAATC	0.473																																					Ovarian(24;589 697 9939 12704 40742)											0													70	73	72					7																	99092213		2200	4300	6500	SO:0001587	stop_gained	84124			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.625C>T	chr7.hg19:g.99092213G>A	ENSP00000337363:p.Gln209*		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Nonsense_Mutation	SNP	ENST00000337673.6	hg19	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796123	0.50208	.	.	ENSG00000160908	ENST00000337673	.	.	.	4.15	1.19	0.21007	.	0.713278	0.12205	N	0.489912	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	7.4057	0.26989	0.0:0.346:0.4733:0.1808	.	.	.	.	X	209	.	ENSP00000337363:Q209X	Q	-	1	0	ZNF394	98930149	0.061000	0.20836	0.486000	0.27416	0.517000	0.34286	0.594000	0.24014	0.246000	0.21394	0.655000	0.94253	CAA		0.473	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		A	99092213	G	A	99092213	4	1	33	1	0	0	0	0	0	1	0	0	17885	1328	46	2	1064	2	ZNF394	7	99092213	Nonsense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	48547882	99092213	60046450	37	2407											
ZC3HAV1	56829	hgsc.bcm.edu	37	7	138738235	138738235	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr7:138738235C>G	ENST00000242351.5	-	12	2727	c.2411G>C	c.(2410-2412)aGt>aCt	p.S804T	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S926T	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	804	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATGTAGGAAACTGTCAAAATT	0.388																																																0													143	144	143					7																	138738235		2203	4300	6503	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2411G>C	chr7.hg19:g.138738235C>G	ENSP00000242351:p.Ser804Thr		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	hg19	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772816	0.31411	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.13420	2.59;2.59	5.2	3.36	0.38483	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.612362	0.14791	N	0.298256	T	0.08088	0.0202	N	0.14661	0.345	0.58432	D	0.999993	B	0.06786	0.001	B	0.11329	0.006	T	0.18398	-1.0338	10	0.34782	T	0.22	.	8.3898	0.32522	0.0:0.8094:0.0:0.1906	.	804	Q7Z2W4	ZCCHV_HUMAN	T	804;926	ENSP00000242351:S804T;ENSP00000418385:S926T	ENSP00000242351:S804T	S	-	2	0	ZC3HAV1	138388775	0.999000	0.42202	0.028000	0.17463	0.004000	0.04260	2.248000	0.43160	1.323000	0.45263	0.563000	0.77884	AGT		0.388	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		G	138738235	C	G	138738235	3	3	33	1	0	0	0	0	1	0	0	0	17580	565	20	4	305	4	ZC3HAV1	7	138738235	Missense_Mutation	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10	39646022	138738235	20400428	38	2408											
HIPK2	28996	hgsc.bcm.edu	37	7	139316430	139316430	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr7:139316430A>G	ENST00000406875.3	-	3	1239	c.1145T>C	c.(1144-1146)aTt>aCt	p.I382T	HIPK2_ENST00000428878.2_Missense_Mutation_p.I382T|HIPK2_ENST00000342645.6_Missense_Mutation_p.I382T	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	382	Interaction with DAXX.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CCACATGTCAATTGCCTCACA	0.468																																																0													99	95	96					7																	139316430		1992	4197	6189	SO:0001583	missense	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1145T>C	chr7.hg19:g.139316430A>G	ENSP00000385571:p.Ile382Thr		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	hg19		.	.	.	.	.	.	.	.	.	.	A	23.1	4.378002	0.82682	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.20200	2.09;2.09;2.09	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.47985	0.1475	.	.	.	0.58432	D	0.999998	P;D	0.61080	0.946;0.989	P;D	0.75020	0.659;0.985	T	0.52518	-0.8565	8	0.87932	D	0	.	15.2032	0.73157	1.0:0.0:0.0:0.0	.	382;382	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	T	382	ENSP00000385571:I382T;ENSP00000413724:I382T;ENSP00000343108:I382T	ENSP00000343108:I382T	I	-	2	0	HIPK2	138966970	1.000000	0.71417	0.903000	0.35520	0.964000	0.63967	8.974000	0.93433	2.180000	0.69256	0.383000	0.25322	ATT		0.468	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		G	139316430	A	G	139316430	3	3	33	1	0	0	0	0	1	0	0	0	7119	101	4	3	2503	3	HIPK2	7	139316430	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10	578195	139316430	19822233	39	2409											
EPHB6	2051	hgsc.bcm.edu	37	7	142562074	142562074	+	Silent	SNP	C	C	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr7:142562074C>T	ENST00000392957.2	+	7	1303	c.516C>T	c.(514-516)tcC>tcT	p.S172S	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.S172S	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	172	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Poly-Ser.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					cctcctcctcctcttcttcct	0.622																																																0													83	98	93					7																	142562074		2200	4299	6499	SO:0001819	synonymous_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.516C>T	chr7.hg19:g.142562074C>T			A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	hg19	CCDS5873.2																																																																																				0.622	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			T	142562074	C	T	142562074	2	4	33	1	0	0	0	0	0	0	0	1	5180	668	24	2		2	EPHB6	7	142562074	Silent	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10	3245644	142562074	16576589	40	2410											
RGS3	5998	hgsc.bcm.edu	37	9	116276826	116276826	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr9:116276826C>A	ENST00000374140.2	+	16	1775	c.1566C>A	c.(1564-1566)caC>caA	p.H522Q	RGS3_ENST00000317613.6_Missense_Mutation_p.H410Q|RGS3_ENST00000394646.3_Missense_Mutation_p.H241Q|RGS3_ENST00000374136.1_Missense_Mutation_p.H148Q|RGS3_ENST00000343817.5_Missense_Mutation_p.H241Q|RGS3_ENST00000350696.5_Missense_Mutation_p.H522Q	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	522					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGAAGGGCCACGGGAACTACC	0.572																																																0													128	99	109					9																	116276826		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1566C>A	chr9.hg19:g.116276826C>A	ENSP00000363255:p.His522Gln		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	hg19	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487145	0.44249	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T	0.64438	0.83;0.83;1.21;0.34;-0.1	5.08	-10.2	0.00374	.	0.175530	0.51477	D	0.000089	T	0.36908	0.0984	N	0.14661	0.345	0.37206	D	0.904586	B;B;P;P;P;P	0.41673	0.026;0.302;0.754;0.64;0.759;0.729	B;B;B;B;B;B	0.40940	0.012;0.059;0.344;0.186;0.237;0.318	T	0.68788	-0.5316	10	0.72032	D	0.01	.	12.3146	0.54948	0.0997:0.6511:0.0:0.2493	.	241;148;241;412;410;522	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	Q	522;522;410;241;241;148	ENSP00000363255:H522Q;ENSP00000259406:H522Q;ENSP00000312844:H410Q;ENSP00000340284:H241Q;ENSP00000378141:H241Q	ENSP00000312844:H410Q	H	+	3	2	RGS3	115316647	0.003000	0.15002	0.040000	0.18447	0.978000	0.69477	-1.926000	0.01562	-2.740000	0.00379	-0.340000	0.08031	CAC		0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		A	116276826	C	A	116276826	3	1	33	1	0	0	0	0	1	0	0	0	13312	535	19	4	1765	4	RGS3	9	116276826	Missense_Mutation	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10		116276826	24936605	41	2411											
PAPPA	5069	hgsc.bcm.edu	37	9	118969802	118969802	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr9:118969802T>A	ENST00000328252.3	+	3	1915	c.1546T>A	c.(1546-1548)Ttc>Atc	p.F516I	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	516	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCTCAATATTTTCTTTGCAAA	0.423																																																0													78	77	77					9																	118969802		2203	4300	6503	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1546T>A	chr9.hg19:g.118969802T>A	ENSP00000330658:p.Phe516Ile		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	hg19	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	T	36	5.692924	0.96793	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.02345	4.33	6.17	6.17	0.99709	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.984	D;P	0.68943	0.961;0.844	T	0.00036	-1.2256	10	0.87932	D	0	-24.8985	16.8222	0.85835	0.0:0.0:0.0:1.0	.	58;516	E7EMD3;Q13219	.;PAPP1_HUMAN	I	516;58	ENSP00000330658:F516I	ENSP00000330658:F516I	F	+	1	0	PAPPA	118009623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.371000	0.80710	0.533000	0.62120	TTC		0.423	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		A	118969802	T	A	118969802	3	1	33	1	0	0	0	0	1	0	0	0	11434	1841	64	5	1556	5	PAPPA	9	118969802	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	2692976	118969802	22243629	42	2412											
GLT6D1	360203	hgsc.bcm.edu	37	9	138516059	138516059	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr9:138516059T>C	ENST00000371763.1	-	5	968	c.715A>G	c.(715-717)Att>Gtt	p.I239V		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	239					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AAGTCTAAAATATTATGGGGT	0.403																																																0													122	120	121					9																	138516059		1857	4098	5955	SO:0001583	missense	360203			AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.715A>G	chr9.hg19:g.138516059T>C	ENSP00000360829:p.Ile239Val			Missense_Mutation	SNP	ENST00000371763.1	hg19	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.711905	0.00712	.	.	ENSG00000204007	ENST00000371763	T	0.00949	5.51	3.49	-4.46	0.03536	.	1.290870	0.05318	N	0.526126	T	0.00300	0.0009	N	0.00252	-1.77	0.09310	N	1	B	0.14438	0.01	B	0.15870	0.014	T	0.46148	-0.9212	10	0.02654	T	1	-13.1181	6.5445	0.22398	0.132:0.229:0.0:0.639	.	239	Q7Z4J2	GL6D1_HUMAN	V	239	ENSP00000360829:I239V	ENSP00000360829:I239V	I	-	1	0	GLT6D1	137655880	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.867000	0.04241	-1.120000	0.02953	-0.912000	0.02778	ATT		0.403	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		C	138516059	T	C	138516059	3	2	33	1	0	0	0	0	1	0	0	0	6470	1406	49	3	119	3	GLT6D1	9	138516059	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	19546257	138516059	2697372	43	2413											
TET1	80312	hgsc.bcm.edu	37	10	70404540	70404540	+	Nonsense_Mutation	SNP	T	T	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr10:70404540T>A	ENST00000373644.4	+	4	2263	c.2054T>A	c.(2053-2055)tTg>tAg	p.L685*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	685					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAACAAAAATTGGAATTGAAC	0.393																																																0													64	60	62					10																	70404540		2203	4300	6503	SO:0001587	stop_gained	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2054T>A	chr10.hg19:g.70404540T>A	ENSP00000362748:p.Leu685*		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Nonsense_Mutation	SNP	ENST00000373644.4	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	T	39	7.512099	0.98329	.	.	ENSG00000138336	ENST00000373644	.	.	.	5.93	2.37	0.29283	.	0.975799	0.08385	N	0.953916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8223	0.40889	0.0:0.1927:0.0:0.8073	.	.	.	.	X	685	.	ENSP00000362748:L685X	L	+	2	0	TET1	70074546	1.000000	0.71417	0.927000	0.36925	0.820000	0.46376	2.257000	0.43240	0.161000	0.19458	-1.054000	0.02325	TTG		0.393	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		A	70404540	T	A	70404540	4	1	33	1	0	0	0	0	0	1	0	0	15774	1821	63	5	2064	5	TET1	10	70404540	Nonsense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10		70404540	65130207	44	2414											
DENND5A	23258	hgsc.bcm.edu	37	11	9165682	9165682	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr11:9165682delA	ENST00000328194.3	-	19	3586	c.3266delT	c.(3265-3267)atcfs	p.I1089fs	DENND5A_ENST00000527700.1_Frame_Shift_Del_p.I432fs|DENND5A_ENST00000530044.1_Frame_Shift_Del_p.I1089fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1089					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGCCTCCGGATGACACTGGG	0.607																																																0													88	86	87					11																	9165682		2201	4296	6497	SO:0001589	frameshift_variant	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3266delT	chr11.hg19:g.9165682delA	ENSP00000328524:p.Ile1089fs		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Frame_Shift_Del	DEL	ENST00000328194.3	hg19	CCDS31423.1																																																																																				0.607	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		-	9165682	A	-	9165682	7	5	33	1	0	1	0	1	0	0	0	0	4438	333	12	0	617	0	DENND5A	11	9165682	Frame_Shift_Del	DEL	A	TCGA-5P-A9K2-01A-11D-A42J-10		9165682	125840834	45	2415											
CTR9	9646	hgsc.bcm.edu	37	11	10789494	10789494	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr11:10789494G>A	ENST00000361367.2	+	14	2254	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	610					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCTTGGCAACGTGTGGCTCCA	0.428																																																0													186	174	178					11																	10789494		2201	4294	6495	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1828G>A	chr11.hg19:g.10789494G>A	ENSP00000355013:p.Val610Met		D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	hg19	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559522	0.65538	.	.	ENSG00000198730	ENST00000361367	T	0.47528	0.84	5.56	5.56	0.83823	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.47116	0.1428	M	0.64404	1.975	0.80722	D	1	B	0.32526	0.374	B	0.20955	0.032	T	0.49360	-0.8948	10	0.54805	T	0.06	-10.6378	19.5083	0.95130	0.0:0.0:1.0:0.0	.	610	Q6PD62	CTR9_HUMAN	M	610	ENSP00000355013:V610M	ENSP00000355013:V610M	V	+	1	0	CTR9	10746070	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	9.792000	0.99085	2.620000	0.88729	0.467000	0.42956	GTG		0.428	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		A	10789494	G	A	10789494	3	1	33	1	0	0	0	0	1	0	0	0	4026	1145	40	1	1882	1	CTR9	11	10789494	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	1623812	10789494	124217022	46	2416											
EHBP1L1	254102	hgsc.bcm.edu	37	11	65349066	65349066	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr11:65349066A>G	ENST00000309295.4	+	9	1188	c.923A>G	c.(922-924)aAa>aGa	p.K308R		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	308						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CGGCTCCGGAAAGGCTCTGAT	0.682																																																0													8	9	8					11																	65349066		1828	4032	5860	SO:0001583	missense	254102			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.923A>G	chr11.hg19:g.65349066A>G	ENSP00000312671:p.Lys308Arg		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	hg19	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.396496	0.62177	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;D	0.82255	-0.41;-1.59	4.13	2.98	0.34508	.	0.537435	0.17622	N	0.167700	D	0.83170	0.5196	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.81538	-0.0887	10	0.54805	T	0.06	.	4.8457	0.13512	0.855:0.0:0.145:0.0	.	308	Q8N3D4	EH1L1_HUMAN	R	308	ENSP00000312671:K308R;ENSP00000431996:K308R	ENSP00000312671:K308R	K	+	2	0	EHBP1L1	65105642	0.996000	0.38824	1.000000	0.80357	0.736000	0.42039	0.565000	0.23578	1.744000	0.51775	0.459000	0.35465	AAA		0.682	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		G	65349066	A	G	65349066	3	3	33	1	0	0	0	0	1	0	0	0	4978	14	1	3	957	3	EHBP1L1	11	65349066	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10	54559572	65349066	69657450	47	2417											
BIRC2	329	hgsc.bcm.edu	37	11	102221170	102221170	+	Silent	SNP	A	A	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr11:102221170A>G	ENST00000227758.2	+	2	1984	c.585A>G	c.(583-585)ccA>ccG	p.P195P	BIRC2_ENST00000532672.1_Silent_p.P174P|BIRC2_ENST00000530675.1_Silent_p.P146P|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	195					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATATGTGGCCATTAACTTTTT	0.428																																																0													114	115	115					11																	102221170		2203	4299	6502	SO:0001819	synonymous_variant	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.585A>G	chr11.hg19:g.102221170A>G			B4E026|Q16516|Q4TTG0	Silent	SNP	ENST00000227758.2	hg19	CCDS8316.1																																																																																				0.428	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		G	102221170	A	G	102221170	2	3	33	1	0	0	0	0	0	0	0	1	1435	204	8	3		3	BIRC2	11	102221170	Silent	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10	36872104	102221170	32785346	48	2418											
SLC4A8	9498	hgsc.bcm.edu	37	12	51844689	51844689	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr12:51844689A>G	ENST00000453097.2	+	3	377	c.160A>G	c.(160-162)Atg>Gtg	p.M54V	SLC4A8_ENST00000394856.1_Start_Codon_SNP_p.M1V|SLC4A8_ENST00000535225.2_Start_Codon_SNP_p.M1V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.M81V|SLC4A8_ENST00000514353.3_Start_Codon_SNP_p.M1V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGGAGTTCGGATGCCGCTTGG	0.552																																																0													28	28	28					12																	51844689		2203	4299	6502	SO:0001583	missense	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.160A>G	chr12.hg19:g.51844689A>G	ENSP00000405812:p.Met54Val			Missense_Mutation	SNP	ENST00000453097.2	hg19	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687601	0.48097	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	T;T;T;T;T	0.73681	-0.25;-0.77;-0.76;-0.23;-0.23	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	N	0.05510	-0.035	0.80722	D	1	B;B;B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0;0.0;0.002	B;B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.001;0.002;0.002;0.002	T	0.51244	-0.8730	10	0.02654	T	1	.	14.0718	0.64865	1.0:0.0:0.0:0.0	.	1;81;1;54;54;54;1	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	V	1;81;54;1;54;1;1;1	ENSP00000441520:M1V;ENSP00000351483:M81V;ENSP00000405812:M54V;ENSP00000378325:M1V;ENSP00000442561:M1V	ENSP00000315789:M54V	M	+	1	0	SLC4A8	50130956	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.797000	0.75150	2.039000	0.60335	0.379000	0.24179	ATG		0.552	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		G	51844689	A	G	51844689	3	3	33	1	0	0	0	0	1	0	0	0	14665	333	12	3	170	3	SLC4A8	12	51844689	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10		51844689	82007206	49	2419											
ANKLE2	23141	hgsc.bcm.edu	37	12	133331516	133331516	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr12:133331516C>T	ENST00000357997.5	-	2	474	c.385G>A	c.(385-387)Gct>Act	p.A129T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.A129T|ANKLE2_ENST00000539605.1_Missense_Mutation_p.A67T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	129					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGGCTGAGAGCTGTGACACCT	0.468																																																0													62	63	62					12																	133331516		1925	4138	6063	SO:0001583	missense	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.385G>A	chr12.hg19:g.133331516C>T	ENSP00000350686:p.Ala129Thr		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	hg19	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	10.97	1.501322	0.26861	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.31769	1.91;1.89;1.48	5.27	-1.39	0.08997	.	0.968721	0.08558	N	0.927956	T	0.18130	0.0435	L	0.37561	1.115	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.30736	-0.9968	10	0.20519	T	0.43	-4.831	1.7839	0.03038	0.2934:0.4018:0.096:0.2088	.	129;129	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	67;129;129	ENSP00000446268:A67T;ENSP00000350686:A129T;ENSP00000337651:A129T	ENSP00000337651:A129T	A	-	1	0	ANKLE2	131841589	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.313000	0.02718	-1.011000	0.03391	-2.167000	0.00324	GCT		0.468	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			T	133331516	C	T	133331516	3	4	33	1	0	0	0	0	1	0	0	0	633	797	28	2	2479	2	ANKLE2	12	133331516	Missense_Mutation	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10	81486827	133331516	520379	50	2420											
USP12	219333	hgsc.bcm.edu	37	13	27669947	27669947	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr13:27669947G>T	ENST00000282344.6	-	4	620	c.364C>A	c.(364-366)Caa>Aaa	p.Q122K		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	122	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GCATCTTGTTGCATGTAGTTG	0.264																																					Ovarian(37;808 911 7590 44442 44991)											0													39	41	40					13																	27669947		2201	4295	6496	SO:0001583	missense	219333			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.364C>A	chr13.hg19:g.27669947G>T	ENSP00000282344:p.Gln122Lys		A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	hg19	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992997	0.93167	.	.	ENSG00000152484	ENST00000282344	T	0.56776	0.44	5.54	5.54	0.83059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.85566	0.5726	H	0.99535	4.615	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.91509	0.5225	10	0.72032	D	0.01	-19.9417	19.8379	0.96666	0.0:0.0:1.0:0.0	.	122	O75317	UBP12_HUMAN	K	122	ENSP00000282344:Q122K	ENSP00000282344:Q122K	Q	-	1	0	USP12	26567947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.700000	0.98707	2.765000	0.95021	0.655000	0.94253	CAA		0.264	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		T	27669947	G	T	27669947	3	4	33	1	0	0	0	0	1	0	0	0	17048	1328	46	4	772	4	USP12	13	27669947	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10		27669947	87499931	51	2421											
FLRT2	23768	hgsc.bcm.edu	37	14	86088353	86088353	+	Silent	SNP	T	T	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr14:86088353T>C	ENST00000330753.4	+	2	1262	c.495T>C	c.(493-495)ttT>ttC	p.F165F	FLRT2_ENST00000554746.1_Silent_p.F165F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	165					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AATTGTTGTTTTTGTCTAAGA	0.498																																																0													59	61	61					14																	86088353		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.495T>C	chr14.hg19:g.86088353T>C			A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	hg19	CCDS9877.1																																																																																				0.498	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			C	86088353	T	C	86088353	2	2	33	1	0	0	0	0	0	0	0	1	5941	1838	64	3		3	FLRT2	14	86088353	Silent	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10		86088353	21261187	52	2422											
WDR25	79446	hgsc.bcm.edu	37	14	100996202	100996202	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr14:100996202T>A	ENST00000335290.6	+	7	1685	c.1459T>A	c.(1459-1461)Ttg>Atg	p.L487M	WDR25_ENST00000554998.1_Missense_Mutation_p.L487M|WDR25_ENST00000542471.2_Missense_Mutation_p.L230M|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Missense_Mutation_p.L487M	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	487										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AGGCGGTGACTTGCTGGTGAC	0.662																																																0													63	60	61					14																	100996202		2203	4300	6503	SO:0001583	missense	79446			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1459T>A	chr14.hg19:g.100996202T>A	ENSP00000334148:p.Leu487Met		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	hg19	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.858302	0.32791	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000542471	T;T;T;T	0.01455	4.87;4.87;4.87;4.87	4.83	0.608	0.17569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.375063	0.24571	N	0.037382	T	0.03959	0.0111	L	0.49350	1.555	0.26397	N	0.97649	P;D	0.54964	0.655;0.969	B;P	0.60541	0.269;0.876	T	0.32428	-0.9907	10	0.49607	T	0.09	-14.2158	3.7184	0.08446	0.136:0.5689:0.1327:0.1624	.	230;487	Q64LD2-2;Q64LD2	.;WDR25_HUMAN	M	487;487;487;230	ENSP00000450661:L487M;ENSP00000385540:L487M;ENSP00000334148:L487M;ENSP00000441903:L230M	ENSP00000334148:L487M	L	+	1	2	WDR25	100065955	0.519000	0.26242	0.987000	0.45799	0.242000	0.25591	1.074000	0.30703	0.547000	0.28938	-0.132000	0.14878	TTG		0.662	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		A	100996202	T	A	100996202	3	1	33	1	0	0	0	0	1	0	0	0	17287	1606	56	5	1481	5	WDR25	14	100996202	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	14907849	100996202	6353338	53	2423											
CYFIP1	23191	hgsc.bcm.edu	37	15	22991163	22991163	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr15:22991163C>T	ENST00000313077.7	+	25	2977	c.2852C>T	c.(2851-2853)aCg>aTg	p.T951M	CYFIP1_ENST00000435939.2_Missense_Mutation_p.T520M|CYFIP1_ENST00000560848.1_Missense_Mutation_p.T951M	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TACGTGAAGACGCTGATGGAG	0.652																																																0													70	51	58					15																	22991163		2203	4300	6503	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2852C>T	chr15.hg19:g.22991163C>T	ENSP00000324549:p.Thr951Met			Missense_Mutation	SNP	ENST00000313077.7	hg19	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373132	0.95923	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.24151	1.87;1.87	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.53626	0.1808	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.953;0.946	T	0.52260	-0.8599	10	0.62326	D	0.03	-26.4779	19.9018	0.96988	0.0:1.0:0.0:0.0	.	979;520;951	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	M	951;979;520	ENSP00000324549:T951M;ENSP00000405956:T520M	ENSP00000324549:T951M	T	+	2	0	CYFIP1	20542604	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	7.645000	0.83430	2.787000	0.95880	0.555000	0.69702	ACG		0.652	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		T	22991163	C	T	22991163	3	4	33	1	0	0	0	0	1	0	0	0	4139	536	19	1	3327	1	CYFIP1	15	22991163	Missense_Mutation	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10		22991163	79540229	54	2424											
PARN	5073	hgsc.bcm.edu	37	16	14704668	14704668	+	Splice_Site	SNP	T	T	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr16:14704668T>G	ENST00000437198.2	-	7	530		c.e7-2		PARN_ENST00000341484.7_Splice_Site|PARN_ENST00000566021.1_Splice_Site|PARN_ENST00000539279.1_Intron|PARN_ENST00000420015.2_Splice_Site	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease						female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						ATGGAATTCCTAAACACGATT	0.338																																																0													135	130	131					16																	14704668		1838	4100	5938	SO:0001630	splice_region_variant	5073			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.389-2A>C	chr16.hg19:g.14704668T>G			B2RCB3|B4DDG8|B4DWR4|B4E1H6	Splice_Site	SNP	ENST00000437198.2	hg19	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015177	0.54468	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000538472	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1186	0.72423	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARN	14612169	1.000000	0.71417	0.986000	0.45419	0.714000	0.41099	6.526000	0.73799	2.222000	0.72286	0.533000	0.62120	.		0.338	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582	Intron	G	14704668	T	G	14704668	5	3	33	1	0	0	0	0	0	0	1	0	11455	1536	53	5	1604	5	PARN	16	14704668	Splice_Site	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10		14704668	75650085	55	2425											
ACSM1	116285	hgsc.bcm.edu	37	16	20651870	20651870	+	Silent	SNP	G	G	A	rs377637288	byFrequency	TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr16:20651870G>A	ENST00000307493.4	-	7	1096	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	ACSM1_ENST00000520010.1_Silent_p.G343G|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	343					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CGACCTCCCCGCCAGTATAGC	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		18070	0.0		0.0	False		,,,				2504	0.0031															0								G		0,4402		0,0,2201	94	77	83		1029	-8.5	0	16		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACSM1	NM_052956.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		343/578	20651870	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1029C>T	chr16.hg19:g.20651870G>A			Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	hg19	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	G	3.898	-0.022674	0.07634	0.0	1.16E-4	ENSG00000166743	ENST00000524149	.	.	.	4.83	-8.51	0.00923	.	.	.	.	.	T	0.36082	0.0954	.	.	.	0.30763	N	0.743914	.	.	.	.	.	.	T	0.42103	-0.9471	4	.	.	.	.	11.4682	0.50252	0.6558:0.0947:0.2495:0.0	.	.	.	.	V	49	.	.	A	-	2	0	ACSM1	20559371	0.000000	0.05858	0.013000	0.15412	0.000000	0.00434	-3.438000	0.00471	-2.125000	0.00821	-1.821000	0.00599	GCG		0.572	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		A	20651870	G	A	20651870	2	1	33	1	0	0	0	0	0	0	0	1	182	1074	38	1		1	ACSM1	16	20651870	Silent	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	5947202	20651870	69702883	56	2426											
LRRC36	55282	hgsc.bcm.edu	37	16	67405136	67405137	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr16:67405136_67405137delAG	ENST00000329956.6	+	9	1504_1505	c.1485_1486delAG	c.(1483-1488)acaggcfs	p.G496fs	LRRC36_ENST00000290940.7_Frame_Shift_Del_p.G228fs|LRRC36_ENST00000541146.1_Frame_Shift_Del_p.R20fs|LRRC36_ENST00000435835.3_Frame_Shift_Del_p.G375fs|LRRC36_ENST00000563189.1_Frame_Shift_Del_p.G375fs	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	496										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AAGATGCTACAGGCAGCGAGGC	0.47																																																0																																										SO:0001589	frameshift_variant	55282			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1485_1486delAG	chr16.hg19:g.67405136_67405137delAG	ENSP00000329943:p.Gly496fs		A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Frame_Shift_Del	DEL	ENST00000329956.6	hg19	CCDS32467.1																																																																																				0.47	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		-	67405137	AG	-	67405136	7	5	33	1	0	1	0	1	0	0	0	0	8992	175	7	0	1547	0	LRRC36	16	67405136	Frame_Shift_Del	DEL	AG	TCGA-5P-A9K2-01A-11D-A42J-10	46753266	67405136	22949617	57	2427											
TAT	6898	hgsc.bcm.edu	37	16	71607494	71607494	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr16:71607494C>T	ENST00000355962.4	-	4	489	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	119					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	AATCTCCTCCCGACTGGATAG	0.473																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											0													60	55	56					16																	71607494		2187	4269	6456	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.356G>A	chr16.hg19:g.71607494C>T	ENSP00000348234:p.Arg119Gln		B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	hg19	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454470	0.84209	.	.	ENSG00000198650	ENST00000355962	D	0.91686	-2.89	6.01	6.01	0.97437	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97589	0.9210	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98231	1.0483	10	0.87932	D	0	-18.9801	18.7017	0.91623	0.0:1.0:0.0:0.0	.	119	P17735	ATTY_HUMAN	Q	119	ENSP00000348234:R119Q	ENSP00000348234:R119Q	R	-	2	0	TAT	70164995	1.000000	0.71417	0.995000	0.50966	0.491000	0.33493	5.645000	0.67909	2.861000	0.98227	0.650000	0.86243	CGG		0.473	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			T	71607494	C	T	71607494	3	4	33	1	0	0	0	0	1	0	0	0	15595	652	23	1	1044	1	TAT	16	71607494	Missense_Mutation	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10	4202358	71607494	18747259	58	2428											
ZCCHC14	23174	hgsc.bcm.edu	37	16	87445572	87445572	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr16:87445572G>A	ENST00000268616.4	-	12	2561	c.2344C>T	c.(2344-2346)Ccg>Tcg	p.P782S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	782	Poly-Pro.						nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CAGCCTGGCGGGGGTGGGGCG	0.672																																																0													5	7	6					16																	87445572		1877	3794	5671	SO:0001583	missense	23174			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2344C>T	chr16.hg19:g.87445572G>A	ENSP00000268616:p.Pro782Ser		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	hg19	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	0.776	-0.763986	0.02996	.	.	ENSG00000140948	ENST00000268616	T	0.17213	2.29	5.55	4.57	0.56435	.	0.199338	0.43110	D	0.000616	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	P;D	0.53151	0.939;0.958	P;P	0.52758	0.708;0.609	T	0.11251	-1.0595	10	0.34782	T	0.22	-26.68	12.1873	0.54247	0.0:0.1722:0.8278:0.0	.	782;782	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	S	782	ENSP00000268616:P782S	ENSP00000268616:P782S	P	-	1	0	ZCCHC14	86003073	1.000000	0.71417	0.038000	0.18304	0.006000	0.05464	4.357000	0.59436	1.290000	0.44636	0.643000	0.83706	CCG		0.672	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		A	87445572	G	A	87445572	3	1	33	1	0	0	0	0	1	0	0	0	17588	1232	43	2	513	2	ZCCHC14	16	87445572	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	15838078	87445572	2909181	59	2429											
SLC25A11	8402	hgsc.bcm.edu	37	17	4841167	4841167	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr17:4841167A>T	ENST00000225665.7	-	8	1154	c.814T>A	c.(814-816)Tac>Aac	p.Y272N	RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|SLC25A11_ENST00000544061.2_Missense_Mutation_p.Y221N|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000571816.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	272					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AAGCCCTCGTAGCGGACAACT	0.597																																					Esophageal Squamous(144;1178 2388 18010 48797)											0													79	87	84					17																	4841167		2203	4300	6503	SO:0001583	missense	8402			X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"Solute carriers"	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.814T>A	chr17.hg19:g.4841167A>T	ENSP00000225665:p.Tyr272Asn		F5GY65|O75537|Q969P7	Missense_Mutation	SNP	ENST00000225665.7	hg19	CCDS11059.1	.	.	.	.	.	.	.	.	.	.	A	0.781	-0.762405	0.02996	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	T;T	0.77358	-1.09;-1.09	5.16	5.16	0.70880	Mitochondrial carrier domain (2);	0.206543	0.41712	D	0.000829	T	0.36690	0.0976	N	0.00102	-2.13	0.38778	D	0.954692	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56565	-0.7958	10	0.02654	T	1	-5.1413	12.9924	0.58627	1.0:0.0:0.0:0.0	.	272;272	Q6IBH0;Q02978	.;M2OM_HUMAN	N	272;221	ENSP00000225665:Y272N;ENSP00000440804:Y221N	ENSP00000225665:Y272N	Y	-	1	0	SLC25A11	4781912	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.939000	0.56591	2.164000	0.68074	0.533000	0.62120	TAC		0.597	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		T	4841167	A	T	4841167	3	4	33	1	0	0	0	0	1	0	0	0	14479	420	15	5	134	5	SLC25A11	17	4841167	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10		4841167	76354043	60	2430											
CCDC144A	9720	hgsc.bcm.edu	37	17	16667486	16667487	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr17:16667486_16667487GA>AG	ENST00000360524.8	+	15	4171_4172	c.4095_4096GA>AG	c.(4093-4098)ttGAag>ttAGag	p.K1366E	CCDC144A_ENST00000456009.1_Missense_Mutation_p.K1132E|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.K1366E|CCDC144A_ENST00000443444.2_Missense_Mutation_p.K1366E|CCDC144A_ENST00000399273.1_Missense_Mutation_p.K1366E	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1366																	GCTACTTGTTGAAGGTTAGCTA	0.351																																																0																																										SO:0001583	missense	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	Exception_encountered	chr17.hg19:g.16667486_16667487delinsAG	ENSP00000353717:p.Lys1366Glu		O60311|Q6ZU57	Silent|Missense_Mutation	SNP	ENST00000360524.8	hg19	CCDS45621.1																																																																																				0.351	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			AG	16667487	GA	AG	16667486	3	1	33	1	0	0	0	0	1	0	0	0	2779	1281	45	2	4153	2	CCDC144A	17	16667486	Missense_Mutation	DNP	GA	TCGA-5P-A9K2-01A-11D-A42J-10	11826319	16667486	64527724	61	2431											
ZNF207	7756	hgsc.bcm.edu	37	17	30696690	30696690	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr17:30696690C>T	ENST00000321233.6	+	11	1503	c.1349C>T	c.(1348-1350)cCg>cTg	p.P450L	ZNF207_ENST00000394673.2_Missense_Mutation_p.P435L|ZNF207_ENST00000394670.4_Missense_Mutation_p.P466L|ZNF207_ENST00000577908.1_Missense_Mutation_p.P466L|ZNF207_ENST00000342555.6_Missense_Mutation_p.P469L|ZNF207_ENST00000341711.6_Missense_Mutation_p.P367L	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	450					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGGCAGGGACCGCCAATGGTG	0.522																																																0													73	65	68					17																	30696690		2203	4300	6503	SO:0001583	missense	7756			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1349C>T	chr17.hg19:g.30696690C>T	ENSP00000322777:p.Pro450Leu		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	hg19	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711425	0.48517	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.49720	0.83;0.77	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B	0.21688	0.059;0.012;0.012;0.012;0.012	B;B;B;B;B	0.15870	0.014;0.009;0.009;0.009;0.003	T	0.20140	-1.0284	10	0.72032	D	0.01	.	20.1322	0.98003	0.0:1.0:0.0:0.0	.	419;469;466;435;450	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	L	466;419;469;435;367;450	ENSP00000378165:P466L;ENSP00000344913:P367L	ENSP00000322777:P435L	P	+	2	0	ZNF207	27720803	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.640000	0.61368	2.765000	0.95021	0.484000	0.47621	CCG		0.522	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			T	30696690	C	T	30696690	3	4	33	1	0	0	0	0	1	0	0	0	17770	652	23	1	1443	1	ZNF207	17	30696690	Missense_Mutation	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10	14029204	30696690	50498520	62	2432											
PSMD11	5717	hgsc.bcm.edu	37	17	30806379	30806379	+	Silent	SNP	T	T	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr17:30806379T>C	ENST00000261712.3	+	10	1286	c.1023T>C	c.(1021-1023)ccT>ccC	p.P341P	PSMD11_ENST00000457654.2_Silent_p.P341P	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	341	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|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)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TCATTGAGCCTTTTTCCAGAG	0.507																																					Ovarian(130;1038 1716 9294 11987 19279)											0													121	117	118					17																	30806379		2203	4300	6503	SO:0001819	synonymous_variant	5717			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.1023T>C	chr17.hg19:g.30806379T>C			A8K3I7|E1P663|O00495|Q53FT5	Silent	SNP	ENST00000261712.3	hg19	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	T	9.740	1.164650	0.21538	.	.	ENSG00000108671	ENST00000457654	.	.	.	5.41	0.333	0.15943	.	.	.	.	.	T	0.50257	0.1605	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35500	-0.9786	4	.	.	.	-8.2709	4.7365	0.12991	0.1519:0.3938:0.0:0.4542	.	.	.	.	L	79	.	.	F	+	1	0	PSMD11	27830492	0.938000	0.31826	0.999000	0.59377	0.989000	0.77384	0.064000	0.14437	0.101000	0.17610	0.459000	0.35465	TTT		0.507	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		C	30806379	T	C	30806379	2	2	33	1	0	0	0	0	0	0	0	1	12699	1596	56	3		3	PSMD11	17	30806379	Silent	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	109689	30806379	50388831	63	2433											
RSAD1	55316	hgsc.bcm.edu	37	17	48557272	48557272	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr17:48557272C>A	ENST00000258955.2	+	3	386	c.301C>A	c.(301-303)Ccc>Acc	p.P101T		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	101					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGGGGGGACCCCCAGTCTAGC	0.612											OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													42	53	49					17																	48557272		2203	4300	6503	SO:0001583	missense	55316			AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.301C>A	chr17.hg19:g.48557272C>A	ENSP00000258955:p.Pro101Thr	955	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	ENST00000258955.2	hg19	CCDS11569.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899032	0.91962	.	.	ENSG00000136444	ENST00000258955;ENST00000510554	D	0.87179	-2.22	4.64	4.64	0.57946	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.96436	0.8837	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98372	1.0554	10	0.87932	D	0	-27.8023	17.2877	0.87146	0.0:1.0:0.0:0.0	.	101;101	B4DEV9;Q9HA92	.;RSAD1_HUMAN	T	101;31	ENSP00000258955:P101T	ENSP00000258955:P101T	P	+	1	0	RSAD1	45912271	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.345000	0.79337	2.397000	0.81536	0.491000	0.48974	CCC		0.612	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		A	48557272	C	A	48557272	3	1	33	1	0	0	0	0	1	0	0	0	13700	623	22	4	311	4	RSAD1	17	48557272	Missense_Mutation	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10	17750893	48557272	32637938	64	2434											
AXIN2	8313	hgsc.bcm.edu	37	17	63533850	63533850	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr17:63533850G>T	ENST00000375702.5	-	5	1412	c.1304C>A	c.(1303-1305)cCg>cAg	p.P435Q	AXIN2_ENST00000307078.5_Missense_Mutation_p.P435Q			Q9Y2T1	AXIN2_HUMAN	axin 2	435	Interaction with beta-catenin. {ECO:0000250}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TATCGTCTGCGGGTCTTCCTC	0.672									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																							0													16	18	17					17																	63533850		2175	4255	6430	SO:0001583	missense	8313	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1304C>A	chr17.hg19:g.63533850G>T	ENSP00000364854:p.Pro435Gln		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	hg19		.	.	.	.	.	.	.	.	.	.	G	20.9	4.071338	0.76301	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.69306	-0.39;-0.38	4.93	3.96	0.45880	Axin beta-catenin binding (1);	0.055629	0.85682	D	0.000000	T	0.79701	0.4491	M	0.71036	2.16	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81693	-0.0817	10	0.87932	D	0	-8.8725	12.9793	0.58554	0.0796:0.0:0.9204:0.0	.	435;435	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	Q	435	ENSP00000302625:P435Q;ENSP00000364854:P435Q	ENSP00000302625:P435Q	P	-	2	0	AXIN2	60964312	1.000000	0.71417	0.977000	0.42913	0.948000	0.59901	7.269000	0.78482	1.093000	0.41377	0.650000	0.86243	CCG		0.672	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		T	63533850	G	T	63533850	3	4	33	1	0	0	0	0	1	0	0	0	1237	1116	39	4	1251	4	AXIN2	17	63533850	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	14976578	63533850	17661360	65	2435											
ZNF407	55628	hgsc.bcm.edu	37	18	72776216	72776216	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr18:72776216A>G	ENST00000299687.5	+	8	6539	c.6539A>G	c.(6538-6540)cAg>cGg	p.Q2180R		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CCAGGGGTGCAGGACGAGCCG	0.692																																																0													17	23	21					18																	72776216		2088	4212	6300	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6539A>G	chr18.hg19:g.72776216A>G	ENSP00000299687:p.Gln2180Arg		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	hg19	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	a	6.142	0.394484	0.11638	.	.	ENSG00000215421	ENST00000299687	T	0.12147	2.71	4.63	-1.48	0.08745	.	.	.	.	.	T	0.16981	0.0408	M	0.61703	1.905	0.24952	N	0.99179	B	0.10296	0.003	B	0.12156	0.007	T	0.42666	-0.9438	9	0.72032	D	0.01	.	14.9676	0.71208	0.3463:0.6537:0.0:0.0	.	2180	Q9C0G0	ZN407_HUMAN	R	2180	ENSP00000299687:Q2180R	ENSP00000299687:Q2180R	Q	+	2	0	ZNF407	70905204	0.994000	0.37717	0.013000	0.15412	0.036000	0.12997	2.459000	0.45023	0.362000	0.24319	0.457000	0.33378	CAG		0.692	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		G	72776216	A	G	72776216	3	3	33	1	0	0	0	0	1	0	0	0	17892	188	7	3	6699	3	ZNF407	18	72776216	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10		72776216	5301032	66	2436			2	6		2	2	25	A		6.202012e-05
ZNF407	55628	hgsc.bcm.edu	37	18	72776240	72776240	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr18:72776240A>G	ENST00000299687.5	+	8	6563	c.6563A>G	c.(6562-6564)cAc>cGc	p.H2188R		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTGTACTCCCACACCGTGCTG	0.692																																																0													14	19	17					18																	72776240		2039	4186	6225	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6563A>G	chr18.hg19:g.72776240A>G	ENSP00000299687:p.His2188Arg		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	hg19	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	a	14.35	2.510614	0.44660	.	.	ENSG00000215421	ENST00000299687	T	0.13538	2.58	4.77	4.77	0.60923	.	.	.	.	.	T	0.36524	0.0970	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.15752	-1.0426	9	0.87932	D	0	.	14.3168	0.66457	1.0:0.0:0.0:0.0	.	2188	Q9C0G0	ZN407_HUMAN	R	2188	ENSP00000299687:H2188R	ENSP00000299687:H2188R	H	+	2	0	ZNF407	70905228	1.000000	0.71417	0.841000	0.33234	0.047000	0.14425	4.479000	0.60236	2.194000	0.70268	0.457000	0.33378	CAC		0.692	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		G	72776240	A	G	72776240	3	3	33	1	0	0	0	0	1	0	0	0	17892	159	6	3	6723	3	ZNF407	18	72776240	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10	24	72776240	5301008	67	2437			2	6		2	2	25	A		6.202012e-05
WDR18	57418	hgsc.bcm.edu	37	19	994054	994056	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	GCT	GCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr19:994054_994056delGCT	ENST00000251289.5	+	9	1157_1159	c.1134_1136delGCT	c.(1132-1137)cagctg>cag	p.L379del	WDR18_ENST00000587001.2_Intron	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	379					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACGGAGCAGCTGCAGGCCGTC	0.7																																																0																																										SO:0001651	inframe_deletion	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.1134_1136delGCT	chr19.hg19:g.994054_994056delGCT	ENSP00000251289:p.Leu379del		O60390|Q9BWR2	In_Frame_Del	DEL	ENST00000251289.5	hg19	CCDS12051.1																																																																																				0.7	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			-	994056	GCT	-	994054	7	5	33	1	0	1	0	1	0	0	0	0	17283	962	34	0	1168	0	WDR18	19	994054	In_Frame_Del	DEL	GCT	TCGA-5P-A9K2-01A-11D-A42J-10		994054	58134929	68	2438											
SAFB2	9667	hgsc.bcm.edu	37	19	5587272	5587272	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr19:5587272G>T	ENST00000252542.4	-	21	3108	c.2844C>A	c.(2842-2844)caC>caA	p.H948Q		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	948	Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GGCGGGTGAAgtgggggtacg	0.647																																					Ovarian(127;888 1728 23957 44128 52668)											0													21	23	22					19																	5587272		2203	4299	6502	SO:0001583	missense	9667			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2844C>A	chr19.hg19:g.5587272G>T	ENSP00000252542:p.His948Gln		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	hg19	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	g	13.86	2.363959	0.41902	.	.	ENSG00000130254	ENST00000252542	T	0.08282	3.11	3.73	3.73	0.42828	.	0.618569	0.14577	N	0.311114	T	0.07143	0.0181	L	0.36672	1.1	0.30505	N	0.769985	B	0.30482	0.281	B	0.26517	0.07	T	0.07121	-1.0789	10	0.59425	D	0.04	-9.5501	7.3079	0.26457	0.1263:0.0:0.8737:0.0	.	948	Q14151	SAFB2_HUMAN	Q	948	ENSP00000252542:H948Q	ENSP00000252542:H948Q	H	-	3	2	SAFB2	5538272	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.856000	0.27818	1.614000	0.50241	0.561000	0.74099	CAC		0.647	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		T	5587272	G	T	5587272	3	4	33	1	0	0	0	0	1	0	0	0	13813	1020	36	4	21	4	SAFB2	19	5587272	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	4593218	5587272	53541711	69	2439											
ZNF709	163051	hgsc.bcm.edu	37	19	12575957	12575957	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr19:12575957G>C	ENST00000397732.3	-	4	950	c.779C>G	c.(778-780)gCt>gGt	p.A260G	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.A260G	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						ATATCTGAAAGCTTTTCCACA	0.388																																					GBM(33;565 669 12371 29134 51667)											0													50	52	52					19																	12575957		2158	4284	6442	SO:0001583	missense	163051			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.779C>G	chr19.hg19:g.12575957G>C	ENSP00000380840:p.Ala260Gly		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	hg19	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506577	0.64410	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.19669	2.13;2.13	2.8	0.387	0.16259	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.011620	0.07961	N	0.982440	T	0.12433	0.0302	N	0.13098	0.295	0.09310	N	1	B	0.15719	0.014	B	0.15052	0.012	T	0.33420	-0.9869	10	0.59425	D	0.04	.	6.852	0.24020	0.0:0.4983:0.3262:0.1756	.	260	Q8N972	ZN709_HUMAN	G	260	ENSP00000380840:A260G;ENSP00000404127:A260G	ENSP00000404127:A260G	A	-	2	0	ZNF709;CTD-2192J16.17	12436957	0.000000	0.05858	0.007000	0.13788	0.904000	0.53231	-0.765000	0.04730	0.198000	0.20407	0.467000	0.42956	GCT		0.388	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		C	12575957	G	C	12575957	3	2	33	1	0	0	0	0	1	0	0	0	18118	971	34	4	1150	4	ZNF709	19	12575957	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	6988685	12575957	46553026	70	2440											
ERF	2077	hgsc.bcm.edu	37	19	42754700	42754700	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr19:42754700A>G	ENST00000222329.4	-	2	197	c.40T>C	c.(40-42)Tgg>Cgg	p.W14R	ERF_ENST00000440177.2_5'UTR|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'UTR	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	14					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TTGTAGGCCCAATCCGGGAAG	0.647																																																0													38	33	35					19																	42754700		2202	4300	6502	SO:0001583	missense	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.40T>C	chr19.hg19:g.42754700A>G	ENSP00000222329:p.Trp14Arg		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	hg19	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.716679	0.68844	.	.	ENSG00000105722	ENST00000222329	T	0.08896	3.04	5.37	5.37	0.77165	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26991	0.0661	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00715	-1.1597	10	0.87932	D	0	.	13.6266	0.62168	1.0:0.0:0.0:0.0	.	14	P50548	ERF_HUMAN	R	14	ENSP00000222329:W14R	ENSP00000222329:W14R	W	-	1	0	ERF	47446540	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	7.293000	0.78740	2.170000	0.68504	0.533000	0.62120	TGG		0.647	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		G	42754700	A	G	42754700	3	3	33	1	0	0	0	0	1	0	0	0	5223	130	5	3	1618	3	ERF	19	42754700	Missense_Mutation	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10	30178743	42754700	16374283	71	2441											
ZNF221	7638	hgsc.bcm.edu	37	19	44466901	44466901	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr19:44466901T>G	ENST00000251269.5	+	3	351	c.23T>G	c.(22-24)cTg>cGg	p.L8R	ZNF221_ENST00000592350.1_Missense_Mutation_p.L8R|ZNF221_ENST00000587682.1_Missense_Mutation_p.L8R	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TCACTTGAACTGCTTCATTCA	0.428																																																0													145	124	131					19																	44466901		2203	4300	6503	SO:0001583	missense	7638			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.23T>G	chr19.hg19:g.44466901T>G	ENSP00000251269:p.Leu8Arg		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	hg19	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634816	0.29068	.	.	ENSG00000159905	ENST00000251269	T	0.07444	3.19	2.04	2.04	0.26737	.	.	.	.	.	T	0.06416	0.0165	N	0.22421	0.69	0.09310	N	1	D	0.58620	0.983	B	0.43838	0.433	T	0.32613	-0.9900	9	0.72032	D	0.01	.	6.0601	0.19832	0.0:0.0:0.0:1.0	.	8	Q9UK13	ZN221_HUMAN	R	8	ENSP00000251269:L8R	ENSP00000251269:L8R	L	+	2	0	ZNF221	49158741	0.066000	0.20996	0.002000	0.10522	0.002000	0.02628	1.349000	0.33998	1.167000	0.42706	0.379000	0.24179	CTG		0.428	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			G	44466901	T	G	44466901	3	3	33	1	0	0	0	0	1	0	0	0	17780	1580	55	5	25	5	ZNF221	19	44466901	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10	1712201	44466901	14662082	72	2442											
GLTSCR2	29997	hgsc.bcm.edu	37	19	48248919	48248919	+	Silent	SNP	A	A	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr19:48248919A>C	ENST00000246802.5	+	1	141	c.103A>C	c.(103-105)Agg>Cgg	p.R35R	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	35						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCCAGCGCTGAGGCGGCGGCG	0.677																																					Colon(58;613 1041 9473 10089 15241)											0													39	48	45					19																	48248919		2203	4300	6503	SO:0001819	synonymous_variant	29997			AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.103A>C	chr19.hg19:g.48248919A>C			Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	hg19	CCDS12705.1																																																																																				0.677	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		C	48248919	A	C	48248919	2	2	33	1	0	0	0	0	0	0	0	1	6477	295	11	5		5	GLTSCR2	19	48248919	Silent	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10	3782018	48248919	10880064	73	2443											
CNOT3	4849	hgsc.bcm.edu	37	19	54652449	54652449	+	Silent	SNP	C	C	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr19:54652449C>G	ENST00000406403.1	+	11	2980	c.1377C>G	c.(1375-1377)tcC>tcG	p.S459S	CNOT3_ENST00000358389.3_Silent_p.S278S|CNOT3_ENST00000221232.5_Silent_p.S459S			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	459	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCCCCTTCCGGCCCCCACA	0.652																																																0													20	23	22					19																	54652449		2203	4299	6502	SO:0001819	synonymous_variant	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1377C>G	chr19.hg19:g.54652449C>G			Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	hg19	CCDS12880.1																																																																																				0.652	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		G	54652449	C	G	54652449	2	3	33	1	0	0	0	0	0	0	0	1	3622	639	23	4		4	CNOT3	19	54652449	Silent	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10	6403530	54652449	4476534	74	2444											
TTYH1	57348	hgsc.bcm.edu	37	19	54930303	54930303	+	Splice_Site	SNP	C	C	A			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr19:54930303C>A	ENST00000376530.3	+	2	231	c.128C>A	c.(127-129)gCc>gAc	p.A43D	TTYH1_ENST00000301194.4_Splice_Site_p.A43D|TTYH1_ENST00000376531.3_Splice_Site_p.A43D|TTYH1_ENST00000391739.3_Splice_Site_p.A92D	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	43					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTTCCCCAGGCCTTGTTGCTG	0.662																																																0													77	81	80					19																	54930303		2203	4299	6502	SO:0001630	splice_region_variant	57348			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.127-1C>A	chr19.hg19:g.54930303C>A			B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	hg19	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560585	0.65538	.	.	ENSG00000167614	ENST00000444661;ENST00000423529;ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54	3.5	2.45	0.29901	.	0.078315	0.51477	D	0.000087	T	0.28001	0.0690	L	0.55990	1.75	0.42190	D	0.99172	D;D;D;D	0.89917	0.995;1.0;1.0;0.999	D;D;D;D	0.87578	0.912;0.998;0.998;0.997	T	0.01566	-1.1323	10	0.72032	D	0.01	-17.3171	8.7249	0.34463	0.0:0.8838:0.0:0.1162	.	92;43;43;43	B7Z1H9;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	D	15;39;43;43;92;92;43	ENSP00000391282:A39D;ENSP00000301194:A43D;ENSP00000365713:A43D;ENSP00000393592:A92D;ENSP00000375619:A92D;ENSP00000365714:A43D	ENSP00000301194:A43D	A	+	2	0	TTYH1	59622115	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	5.153000	0.64888	0.818000	0.34468	0.555000	0.69702	GCC		0.662	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1		Missense_Mutation	A	54930303	C	A	54930303	5	1	33	1	0	0	0	0	0	0	1	0	16744	753	26	4	134	4	TTYH1	19	54930303	Splice_Site	SNP	C	TCGA-5P-A9K2-01A-11D-A42J-10	277854	54930303	4198680	75	2445											
GZF1	64412	hgsc.bcm.edu	37	20	23345062	23345062	+	Silent	SNP	A	A	C			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr20:23345062A>C	ENST00000338121.5	+	2	119	c.42A>C	c.(40-42)ccA>ccC	p.P14P	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Silent_p.P14P			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	14					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AATCCTCCCCATTTAACCTAC	0.478																																																0													86	89	88					20																	23345062		2203	4300	6503	SO:0001819	synonymous_variant	64412			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.42A>C	chr20.hg19:g.23345062A>C			A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	hg19	CCDS13151.1																																																																																				0.478	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		C	23345062	A	C	23345062	2	2	33	1	0	0	0	0	0	0	0	1	6916	204	8	5		5	GZF1	20	23345062	Silent	SNP	A	TCGA-5P-A9K2-01A-11D-A42J-10		23345062	39680458	76	2446											
PRIC285	85441	hgsc.bcm.edu	37	20	62200744	62200744	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr20:62200744delT	ENST00000467148.1	-	4	914	c.845delA	c.(844-846)aatfs	p.N282fs	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	282					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GAGCGCCAGATTCCTGCAGGG	0.682																																																0													19	23	22					20																	62200744		2190	4297	6487	SO:0001589	frameshift_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.845delA	chr20.hg19:g.62200744delT	ENSP00000417401:p.Asn282fs		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	hg19	CCDS33508.1																																																																																				0.682	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		-	62200744	T	-	62200744	7	5	33	1	0	1	0	1	0	0	0	0	12490	1493	52	0	7191	0	PRIC285	20	62200744	Frame_Shift_Del	DEL	T	TCGA-5P-A9K2-01A-11D-A42J-10	38855682	62200744	824776	77	2447											
ZGPAT	84619	hgsc.bcm.edu	37	20	62365029	62365029	+	Missense_Mutation	SNP	G	G	A	rs376773744		TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr20:62365029G>A	ENST00000328969.5	+	4	936	c.809G>A	c.(808-810)cGc>cAc	p.R270H	ZGPAT_ENST00000355969.6_Missense_Mutation_p.R270H|ZGPAT_ENST00000357119.4_Missense_Mutation_p.R270H|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.R270H|ZGPAT_ENST00000448100.2_Missense_Mutation_p.R270H|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.A176T|ZGPAT_ENST00000478385.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	270					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCCCACTGCGCACAGAGGCC	0.637																																																0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	110	106	108		809,809,809,809,809	4.7	0.6	20		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ZGPAT	NM_001083113.1,NM_001195653.1,NM_001195654.1,NM_032527.4,NM_181485.2	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	270/512,270/512,270/503,270/532,270/512	62365029	1,13005	2203	4300	6503	SO:0001583	missense	84619			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.809G>A	chr20.hg19:g.62365029G>A	ENSP00000332013:p.Arg270His		E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	hg19	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	G	37	6.080234	0.97267	0.0	1.16E-4	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.24538	1.88;1.88;1.85;1.88;1.86	5.65	4.7	0.59300	.	0.050728	0.85682	N	0.000000	T	0.48750	0.1517	M	0.76328	2.33	0.46901	D	0.999241	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.44528	-0.9322	10	0.30854	T	0.27	-4.7504	12.8179	0.57675	0.0758:0.0:0.9242:0.0	.	270;270;270	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	H	270	ENSP00000391176:R270H;ENSP00000348242:R270H;ENSP00000349634:R270H;ENSP00000358984:R270H;ENSP00000332013:R270H	ENSP00000332013:R270H	R	+	2	0	ZGPAT	61835473	1.000000	0.71417	0.555000	0.28281	0.949000	0.60115	6.831000	0.75324	1.387000	0.46486	0.591000	0.81541	CGC		0.637	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		A	62365029	G	A	62365029	3	1	33	1	0	0	0	0	1	0	0	0	17679	1087	38	1	819	1	ZGPAT	20	62365029	Missense_Mutation	SNP	G	TCGA-5P-A9K2-01A-11D-A42J-10	164285	62365029	660491	78	2448											
C20orf135	140701	hgsc.bcm.edu	37	20	62494129	62494129	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr20:62494129delG	ENST00000369916.3	+	1	1564	c.1236delG	c.(1234-1236)gagfs	p.E413fs	C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000348257.5_5'Flank|TPD52L2_ENST00000351424.4_5'Flank|TPD52L2_ENST00000352482.4_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	413							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						TGGAGGGCGAGGAGGCCCTGG	0.721																																																0													11	10	11					20																	62494129		1954	3816	5770	SO:0001589	frameshift_variant	140701				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.1236delG	chr20.hg19:g.62494129delG	ENSP00000358932:p.Glu413fs			Frame_Shift_Del	DEL	ENST00000369916.3	hg19	CCDS13539.1																																																																																				0.721	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			-	62494129	G	-	62494129	7	5	33	1	0	1	0	1	0	0	0	0	2090	991	35	0	1238	0	C20orf135	20	62494129	Frame_Shift_Del	DEL	G	TCGA-5P-A9K2-01A-11D-A42J-10	129100	62494129	531391	79	2449											
ADARB1	104	hgsc.bcm.edu	37	21	46603314	46603314	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9K2-01A-11D-A42J-10	TCGA-5P-A9K2-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	13f52db0-17b0-499c-ab9f-dd9c49a5ee2d	59a2e838-4559-4580-8f5f-07db42390e4d	g.chr21:46603314T>G	ENST00000360697.3	+	5	1300	c.1285T>G	c.(1285-1287)Tca>Gca	p.S429A	ADARB1_ENST00000348831.4_Missense_Mutation_p.S429A|ADARB1_ENST00000539173.1_Missense_Mutation_p.S429A|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Missense_Mutation_p.S429A			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	429	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CTTTCAGAAATCAGAGCGAGG	0.393																																																0													56	59	58					21																	46603314		2203	4300	6503	SO:0001583	missense	104			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1285T>G	chr21.hg19:g.46603314T>G	ENSP00000353920:p.Ser429Ala		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	hg19	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525933	0.44969	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.63	5.63	0.86233	Adenosine deaminase/editase (3);	0.115843	0.64402	D	0.000012	D	0.84754	0.5542	N	0.11201	0.11	0.80722	D	1	B;B;B;B	0.18310	0.027;0.005;0.008;0.004	B;B;B;B	0.24269	0.038;0.052;0.045;0.022	T	0.79995	-0.1568	10	0.07325	T	0.83	-28.2484	14.0959	0.65021	0.0:0.0:0.0:1.0	.	429;429;457;429	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	A	429	ENSP00000441897:S429A;ENSP00000374513:S429A;ENSP00000015877:S429A;ENSP00000353920:S429A	ENSP00000015877:S429A	S	+	1	0	ADARB1	45427742	1.000000	0.71417	0.850000	0.33497	0.990000	0.78478	5.882000	0.69714	2.279000	0.76181	0.533000	0.62120	TCA		0.393	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		G	46603314	T	G	46603314	3	3	33	1	0	0	0	0	1	0	0	0	282	1435	50	5	1303	5	ADARB1	21	46603314	Missense_Mutation	SNP	T	TCGA-5P-A9K2-01A-11D-A42J-10		46603314	1526581	80	2450											
PLEKHG5	57449	hgsc.bcm.edu	37	1	6529206	6529206	+	Silent	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr1:6529206C>T	ENST00000400915.3	-	20	2379	c.2313G>A	c.(2311-2313)gaG>gaA	p.E771E	PLEKHG5_ENST00000377725.1_Silent_p.E715E|PLEKHG5_ENST00000537245.1_Silent_p.E794E|PLEKHG5_ENST00000377740.3_Silent_p.E792E|TNFRSF25_ENST00000377782.3_5'Flank|PLEKHG5_ENST00000340850.5_Silent_p.E715E|PLEKHG5_ENST00000377732.1_Silent_p.E752E|PLEKHG5_ENST00000377748.1_Silent_p.E792E|PLEKHG5_ENST00000400913.1_Silent_p.E715E|PLEKHG5_ENST00000377728.3_Silent_p.E715E|PLEKHG5_ENST00000377737.2_Silent_p.E715E|PLEKHG5_ENST00000544978.1_Silent_p.E715E|TNFRSF25_ENST00000351959.5_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000535355.1_Silent_p.E784E	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	771	Glu-rich.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		cctcctcctcctcttcctcct	0.637																																																0													75	76	76					1																	6529206		2203	4300	6503	SO:0001819	synonymous_variant	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2313G>A	chr1.hg19:g.6529206C>T			B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	hg19	CCDS41241.1																																																																																				0.637	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		T	6529206	C	T	6529206	2	4	34	1	0	0	0	0	0	0	0	1	12075	680	24	2		2	PLEKHG5	1	6529206	Silent	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10		6529206	242721415	1	2451											
GBP2	2634	hgsc.bcm.edu	37	1	89587538	89587538	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr1:89587538C>G	ENST00000370466.3	-	2	380	c.112G>C	c.(112-114)Gtg>Ctg	p.V38L	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	38	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		ACCACCACCACAGGCTGCGTA	0.522																																																0													162	146	151					1																	89587538		2203	4300	6503	SO:0001583	missense	2634			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.112G>C	chr1.hg19:g.89587538C>G	ENSP00000359497:p.Val38Leu		Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	hg19	CCDS719.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075367	0.36662	.	.	ENSG00000162645	ENST00000370466	T	0.79033	-1.23	3.43	2.48	0.30137	Guanylate-binding protein, N-terminal (1);	0.099287	0.38837	U	0.001553	T	0.56001	0.1956	L	0.46670	1.46	0.25639	N	0.986223	B	0.27316	0.175	B	0.33339	0.162	T	0.53358	-0.8450	10	0.44086	T	0.13	-12.4763	10.4347	0.44428	0.0:0.7988:0.2012:0.0	.	38	P32456	GBP2_HUMAN	L	38	ENSP00000359497:V38L	ENSP00000359497:V38L	V	-	1	0	GBP2	89360126	0.602000	0.26916	0.012000	0.15200	0.166000	0.22503	1.376000	0.34306	0.730000	0.32425	0.491000	0.48974	GTG		0.522	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		G	89587538	C	G	89587538	3	3	34	1	0	0	0	0	1	0	0	0	6276	478	17	4	1703	4	GBP2	1	89587538	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	83058332	89587538	159663083	2	2452											
HMCN1	83872	hgsc.bcm.edu	37	1	186072734	186072734	+	Silent	SNP	C	C	G			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr1:186072734C>G	ENST00000271588.4	+	69	10933	c.10704C>G	c.(10702-10704)ccC>ccG	p.P3568P	HMCN1_ENST00000367492.2_Silent_p.P3568P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3568	Ig-like C2-type 34.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGCCGGCCCCTTCCACAGA	0.428																																																0													69	72	71					1																	186072734		2203	4299	6502	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10704C>G	chr1.hg19:g.186072734C>G			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																				0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186072734	C	G	186072734	2	3	34	1	0	0	0	0	0	0	0	1	7222	610	22	4		4	HMCN1	1	186072734	Silent	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	96485196	186072734	63177887	3	2453											
KCNT2	343450	hgsc.bcm.edu	37	1	196448320	196448320	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr1:196448320G>C	ENST00000294725.9	-	5	1288	c.373C>G	c.(373-375)Ctt>Gtt	p.L125V	KCNT2_ENST00000367433.5_Missense_Mutation_p.L125V|KCNT2_ENST00000609185.1_Missense_Mutation_p.L125V|KCNT2_ENST00000367431.4_Missense_Mutation_p.L125V|KCNT2_ENST00000451324.2_De_novo_Start_OutOfFrame			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	125					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTATAACTAAGATAACCAAGT	0.299																																																0													52	52	52					1																	196448320		2200	4299	6499	SO:0001583	missense	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.373C>G	chr1.hg19:g.196448320G>C	ENSP00000294725:p.Leu125Val		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	hg19	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696345	0.48202	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.21191	2.02;2.08;2.28	5.06	4.14	0.48551	.	0.000000	0.53938	D	0.000047	T	0.35508	0.0934	M	0.79343	2.45	0.80722	D	1	P;P;P;P	0.45634	0.739;0.83;0.863;0.739	B;P;P;B	0.51324	0.443;0.646;0.666;0.443	T	0.03423	-1.1038	10	0.41790	T	0.15	-12.8857	11.2789	0.49181	0.0906:0.0:0.9094:0.0	.	125;125;125;125	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	V	125	ENSP00000356403:L125V;ENSP00000356401:L125V;ENSP00000294725:L125V	ENSP00000294725:L125V	L	-	1	0	KCNT2	194714943	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.775000	0.62346	2.791000	0.96007	0.591000	0.81541	CTT		0.299	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		C	196448320	G	C	196448320	3	2	34	1	0	0	0	0	1	0	0	0	8094	942	33	4	3130	4	KCNT2	1	196448320	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	10375586	196448320	52802301	4	2454											
BTG2	7832	hgsc.bcm.edu	37	1	203276494	203276495	+	Frame_Shift_Ins	INS	-	-	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr1:203276494_203276495insA	ENST00000290551.4	+	2	476_477	c.405_406insA	c.(406-408)accfs	p.T136fs	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	136					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GTGGGCTCCTCACCTGCAAGAA	0.668																																																0																																										SO:0001589	frameshift_variant	7832				CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.406dupA	chr1.hg19:g.203276495_203276495dupA	ENSP00000290551:p.Thr136fs		A0A024R986|Q3KR25|Q5VUT0	Frame_Shift_Ins	INS	ENST00000290551.4	hg19	CCDS1437.1																																																																																				0.668	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		A	203276495	-	A	203276494	7	5	34	1	0	1	1	0	0	0	0	0	1556	813	29	0	411	0	BTG2	1	203276494	Frame_Shift_Ins	INS	-	TCGA-5P-A9K3-01A-11D-A42J-10	6828174	203276494	45974127	5	2455											
BPNT1	10380	hgsc.bcm.edu	37	1	220232335	220232335	+	Splice_Site	SNP	C	C	G			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr1:220232335C>G	ENST00000469520.2	-	10	1228		c.e10-1		BPNT1_ENST00000322067.7_Splice_Site|BPNT1_ENST00000544404.1_Splice_Site|BPNT1_ENST00000414869.2_Splice_Site|BPNT1_ENST00000354807.3_Splice_Site			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GTTAACTTGCCTATAGAAAAA	0.383																																																0													116	107	110					1																	220232335		1899	4122	6021	SO:0001630	splice_region_variant	10380			AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.779-1G>C	chr1.hg19:g.220232335C>G			A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Splice_Site	SNP	ENST00000469520.2	hg19	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621110	0.87460	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.28	0.94050	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPNT1	218298958	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.682000	0.84083	2.643000	0.89663	0.555000	0.69702	.		0.383	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085	Intron	G	220232335	C	G	220232335	5	3	34	1	0	0	0	0	0	0	1	0	1496	695	24	4	152	4	BPNT1	1	220232335	Splice_Site	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	16955841	220232335	29018286	6	2456											
SETD2	29072	hgsc.bcm.edu	37	3	47079260	47079260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr3:47079260G>A	ENST00000409792.3	-	18	7288	c.7246C>T	c.(7246-7248)Cag>Tag	p.Q2416*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2416	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGATCCCACTGAGTCTGCCTA	0.458			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													100	88	92					3																	47079260		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7246C>T	chr3.hg19:g.47079260G>A	ENSP00000386759:p.Gln2416*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	48	14.016458	0.99775	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.93	5.93	0.95920	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	X	2416	.	ENSP00000386759:Q2416X	Q	-	1	0	SETD2	47054264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.717000	0.98755	2.826000	0.97356	0.655000	0.94253	CAG		0.458	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47079260	G	A	47079260	4	1	34	1	0	0	0	0	0	1	0	0	14137	1299	45	2	464	2	SETD2	3	47079260	Nonsense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10		47079260	150943170	7	2457											
PBRM1	55193	hgsc.bcm.edu	37	3	52613184	52613184	+	Frame_Shift_Del	DEL	T	T	-	rs373854321		TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr3:52613184delT	ENST00000296302.7	-	21	3420	c.3419delA	c.(3418-3420)aatfs	p.N1140fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N1115fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N1155fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N1115fs|SMIM4_ENST00000476842.1_3'UTR|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.N1108fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N1140fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N1155fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N1140fs			Q86U86	PB1_HUMAN	polybromo 1	1140					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N1140fs*19(2)|p.N1108fs*19(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGGTTCACCATTGGACATTTC	0.443			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Deletion - Frameshift(3)	kidney(3)											165	141	149					3																	52613184		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3419delA	chr3.hg19:g.52613184delT	ENSP00000296302:p.Asn1140fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	hg19																																																																																					0.443	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52613184	T	-	52613184	7	5	34	1	0	1	0	1	0	0	0	0	11493	1493	52	0	1521	0	PBRM1	3	52613184	Frame_Shift_Del	DEL	T	TCGA-5P-A9K3-01A-11D-A42J-10	5533924	52613184	145409246	8	2458											
COL6A6	131873	hgsc.bcm.edu	37	3	130290142	130290142	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr3:130290142G>A	ENST00000358511.6	+	6	2913	c.2882G>A	c.(2881-2883)gGa>gAa	p.G961E	COL6A6_ENST00000453409.2_Missense_Mutation_p.G961E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	961	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCCATGGCAGGATCAAGCGAC	0.498																																																0													52	50	51					3																	130290142		1978	4174	6152	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2882G>A	chr3.hg19:g.130290142G>A	ENSP00000351310:p.Gly961Glu		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018725	0.54576	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78364	-1.17;-1.17	4.82	4.82	0.62117	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000046	T	0.78604	0.4309	M	0.80508	2.5	0.30392	N	0.780931	P	0.47484	0.896	P	0.44394	0.448	T	0.79662	-0.1710	10	0.41790	T	0.15	.	10.0767	0.42364	0.132:0.0:0.868:0.0	.	961	A6NMZ7	CO6A6_HUMAN	E	961	ENSP00000351310:G961E;ENSP00000399236:G961E	ENSP00000351310:G961E	G	+	2	0	COL6A6	131772832	1.000000	0.71417	0.763000	0.31416	0.909000	0.53808	4.785000	0.62418	2.403000	0.81681	0.561000	0.74099	GGA		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130290142	G	A	130290142	3	1	34	1	0	0	0	0	1	0	0	0	3705	1174	41	2	2904	2	COL6A6	3	130290142	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	77676958	130290142	67732288	9	2459											
NLGN1	22871	hgsc.bcm.edu	37	3	173997169	173997169	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr3:173997169delT	ENST00000457714.1	+	6	1807	c.1378delT	c.(1378-1380)tttfs	p.F460fs	NLGN1_ENST00000361589.4_Frame_Shift_Del_p.F460fs|NLGN1_ENST00000401917.3_Frame_Shift_Del_p.F500fs|NLGN1_ENST00000545397.1_Frame_Shift_Del_p.F460fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	477					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACTGGCTTTGTTTACGGACCA	0.448																																																0													97	93	95					3																	173997169		2203	4300	6503	SO:0001589	frameshift_variant	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1378delT	chr3.hg19:g.173997169delT	ENSP00000392500:p.Phe460fs		Q9UPT2	Frame_Shift_Del	DEL	ENST00000457714.1	hg19	CCDS3222.1																																																																																				0.448	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		-	173997169	T	-	173997169	7	5	34	1	0	1	0	1	0	0	0	0	10463	1725	60	0	1392	0	NLGN1	3	173997169	Frame_Shift_Del	DEL	T	TCGA-5P-A9K3-01A-11D-A42J-10	43707027	173997169	24025261	10	2460											
PIK3CA	5290	hgsc.bcm.edu	37	3	178916725	178916725	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr3:178916725C>T	ENST00000263967.3	+	2	269	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	38	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> H (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R38G(1)|p.R38S(1)|p.R38C(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGAATGCCTCCGTGAGGCTAC	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	3	Substitution - Missense(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)											76	74	75					3																	178916725		1845	4085	5930	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.112C>T	chr3.hg19:g.178916725C>T	ENSP00000263967:p.Arg38Cys		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	hg19	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909863	0.72983	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.73363	-0.74;-0.74	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84019	0.5380	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82665	-0.0345	9	.	.	.	-9.214	19.2635	0.93977	0.0:1.0:0.0:0.0	.	38	P42336	PK3CA_HUMAN	C	38	ENSP00000263967:R38C;ENSP00000417479:R38C	.	R	+	1	0	PIK3CA	180399419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.642000	0.67888	2.547000	0.85894	0.555000	0.69702	CGT		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			T	178916725	C	T	178916725	3	4	34	1	0	0	0	0	1	0	0	0	11915	652	23	1	114	1	PIK3CA	3	178916725	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	4919556	178916725	19105705	11	2461											
PIK3CA	5290	hgsc.bcm.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	chr3.hg19:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	hg19	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936082	G	A	178936082	3	1	34	1	0	0	0	0	1	0	0	0	11915	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	19357	178936082	19086348	12	2462											
ADD1	118	hgsc.bcm.edu	37	4	2930015	2930015	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr4:2930015A>G	ENST00000398129.1	+	14	1999	c.1979A>G	c.(1978-1980)aAg>aGg	p.K660R	ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000264758.7_Missense_Mutation_p.K691R|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.K660R|ADD1_ENST00000398123.2_3'UTR			P35611	ADDA_HUMAN	adducin 1 (alpha)	660					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGTTAGAGAAGGAGGAGGAA	0.607																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											0													96	113	107					4																	2930015		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1979A>G	chr4.hg19:g.2930015A>G	ENSP00000381197:p.Lys660Arg		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	hg19	CCDS43205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.319|4.319	0.058597|0.058597	0.08339|0.08339	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398129|ENST00000514940	T;T;T|.	0.06294|.	3.32;3.36;3.36|.	4.9|4.9	0.371|0.371	0.16168|0.16168	.|.	1.249810|.	0.05914|.	N|.	0.632241|.	T|T	0.23249|0.23249	0.0562|0.0562	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.17038|.	0.012;0.02|.	B;B|.	0.16289|.	0.007;0.015|.	T|T	0.27706|0.27706	-1.0066|-1.0066	10|5	0.08837|.	T|.	0.75|.	-1.4542|-1.4542	6.947|6.947	0.24524|0.24524	0.6262:0.1198:0.0:0.254|0.6262:0.1198:0.0:0.254	.|.	660;691|.	P35611;P35611-3|.	ADDA_HUMAN;.|.	R|G	691;660;660|397	ENSP00000264758:K691R;ENSP00000399828:K660R;ENSP00000381197:K660R|.	ENSP00000264758:K691R|.	K|R	+|+	2|1	0|2	ADD1|ADD1	2899813|2899813	1.000000|1.000000	0.71417|0.71417	0.003000|0.003000	0.11579|0.11579	0.266000|0.266000	0.26442|0.26442	3.998000|3.998000	0.57024|0.57024	-0.114000|-0.114000	0.11936|0.11936	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.607	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		G	2930015	A	G	2930015	3	3	34	1	0	0	0	0	1	0	0	0	304	72	3	3	2164	3	ADD1	4	2930015	Missense_Mutation	SNP	A	TCGA-5P-A9K3-01A-11D-A42J-10		2930015	188224261	13	2463											
PKD2	5311	hgsc.bcm.edu	37	4	88929118	88929118	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr4:88929118C>T	ENST00000237596.2	+	1	299	c.233C>T	c.(232-234)cCg>cTg	p.P78L		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CCTTCTCCTCCGCTCTCGTCG	0.731																																																0													1	1	1					4																	88929118		872	2057	2929	SO:0001583	missense	5311			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.233C>T	chr4.hg19:g.88929118C>T	ENSP00000237596:p.Pro78Leu		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	hg19	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130467	0.56828	.	.	ENSG00000118762	ENST00000237596	D	0.82167	-1.58	2.77	1.9	0.25705	.	0.000000	0.64402	U	0.000001	T	0.68137	0.2968	L	0.36672	1.1	0.80722	D	1	P	0.51240	0.943	B	0.32149	0.141	T	0.66960	-0.5791	10	0.87932	D	0	-7.5048	9.3789	0.38301	0.0:0.7799:0.2201:0.0	.	78	Q13563	PKD2_HUMAN	L	78	ENSP00000237596:P78L	ENSP00000237596:P78L	P	+	2	0	PKD2	89148142	1.000000	0.71417	0.333000	0.25482	0.349000	0.29174	3.011000	0.49567	0.331000	0.23511	0.313000	0.20887	CCG		0.731	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		T	88929118	C	T	88929118	3	4	34	1	0	0	0	0	1	0	0	0	11968	652	23	1	235	1	PKD2	4	88929118	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	85999103	88929118	102225158	14	2464											
CASP6	839	hgsc.bcm.edu	37	4	110624544	110624544	+	Missense_Mutation	SNP	G	G	C	rs376919922		TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr4:110624544G>C	ENST00000265164.2	-	1	85	c.8C>G	c.(7-9)tCg>tGg	p.S3W	CASP6_ENST00000352981.3_Missense_Mutation_p.S3W|CASP6_ENST00000505486.1_Missense_Mutation_p.S3W	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	3					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		CCCCGAGGCCGAGCTCATTGC	0.726																																																0													24	30	28					4																	110624544		2201	4296	6497	SO:0001583	missense	839			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"Caspases"	1507	protein-coding gene	gene with protein product		601532	"caspase 6, apoptosis-related cysteine protease"			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.8C>G	chr4.hg19:g.110624544G>C	ENSP00000265164:p.Ser3Trp		Q9BQE7	Missense_Mutation	SNP	ENST00000265164.2	hg19	CCDS3684.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533971	0.27387	.	.	ENSG00000138794	ENST00000352981;ENST00000265164;ENST00000505486	T;T;T	0.54071	3.64;4.26;0.59	2.22	1.36	0.22044	.	3.831530	0.01273	U	0.009503	T	0.40067	0.1102	L	0.29908	0.895	0.09310	N	0.999992	P;P	0.48640	0.913;0.627	B;B	0.38880	0.284;0.257	T	0.38714	-0.9648	10	0.66056	D	0.02	.	4.5637	0.12172	0.1898:0.0:0.8102:0.0	.	3;3	P55212-2;P55212	.;CASP6_HUMAN	W	3	ENSP00000285333:S3W;ENSP00000265164:S3W;ENSP00000424080:S3W	ENSP00000265164:S3W	S	-	2	0	CASP6	110843993	0.870000	0.30015	0.140000	0.22221	0.018000	0.09664	2.136000	0.42121	0.497000	0.27926	0.484000	0.47621	TCG		0.726	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226		C	110624544	G	C	110624544	3	2	34	1	0	0	0	0	1	0	0	0	2677	1059	37	4	901	4	CASP6	4	110624544	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	21695426	110624544	80529732	15	2465											
GIN1	54826	hgsc.bcm.edu	37	5	102423700	102423700	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr5:102423700T>C	ENST00000399004.2	-	8	1565	c.1471A>G	c.(1471-1473)Acg>Gcg	p.T491A	GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	491					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GAGATTTTCGTATTTCTATAT	0.343																																																0													113	105	108					5																	102423700		1833	4086	5919	SO:0001583	missense	54826			BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"gypsy integrase 1", "Ty3/Gypsy integrase 1"		"zinc finger, H2C2 domain containing"	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1471A>G	chr5.hg19:g.102423700T>C	ENSP00000381970:p.Thr491Ala		B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	hg19	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	T	3.219	-0.159979	0.06502	.	.	ENSG00000145723	ENST00000399004	T	0.15718	2.4	5.64	-3.05	0.05396	.	1.062550	0.07572	N	0.918705	T	0.04407	0.0121	N	0.03608	-0.345	0.48452	D	0.99965	B	0.02656	0.0	B	0.01281	0.0	T	0.51926	-0.8643	10	0.05351	T	0.99	-28.7686	1.0916	0.01664	0.2638:0.3554:0.1004:0.2803	.	491	Q9NXP7	GIN1_HUMAN	A	491	ENSP00000381970:T491A	ENSP00000381970:T491A	T	-	1	0	GIN1	102451599	0.005000	0.15991	0.872000	0.34217	0.230000	0.25150	-0.560000	0.05964	-0.199000	0.10317	-0.366000	0.07423	ACG		0.343	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		C	102423700	T	C	102423700	3	2	34	1	0	0	0	0	1	0	0	0	6388	1638	57	3	101	3	GIN1	5	102423700	Missense_Mutation	SNP	T	TCGA-5P-A9K3-01A-11D-A42J-10		102423700	78491560	16	2466											
ANKS1A	23294	hgsc.bcm.edu	37	6	35047434	35047434	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr6:35047434G>A	ENST00000360359.3	+	15	2563	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	ANKS1A_ENST00000535627.1_Intron|ANKS1A_ENST00000470698.1_3'UTR	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	809	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGGAGCTAGAGCTCGTCAA	0.607																																																0													72	69	70					6																	35047434		2203	4300	6503	SO:0001583	missense	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2425G>A	chr6.hg19:g.35047434G>A	ENSP00000353518:p.Glu809Lys		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	hg19	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398429	0.96030	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	T	0.52754	0.65	5.17	5.17	0.71159	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.49916	D	0.000138	T	0.65647	0.2711	M	0.76328	2.33	0.80722	D	1	P;D;D	0.76494	0.865;0.995;0.999	P;D;D	0.85130	0.541;0.976;0.997	T	0.69573	-0.5109	10	0.87932	D	0	-26.8262	19.1108	0.93315	0.0:0.0:1.0:0.0	.	135;135;809	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	K	809;135	ENSP00000353518:E809K	ENSP00000353518:E809K	E	+	1	0	ANKS1A	35155412	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.717000	0.98755	2.573000	0.86826	0.556000	0.70494	GAG		0.607	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		A	35047434	G	A	35047434	3	1	34	1	0	0	0	0	1	0	0	0	688	943	33	2	2483	2	ANKS1A	6	35047434	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10		35047434	136067633	17	2467											
DNAH8	1769	hgsc.bcm.edu	37	6	38919137	38919137	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr6:38919137A>T	ENST00000359357.3	+	80	11895	c.11641A>T	c.(11641-11643)Att>Ttt	p.I3881F	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.I4098F|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3845F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3881	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGAAAGTATATTGCAGATTC	0.378																																																0													134	142	139					6																	38919137		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11641A>T	chr6.hg19:g.38919137A>T	ENSP00000352312:p.Ile3881Phe		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	A	20.3	3.970636	0.74246	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.12984	2.63;2.63;2.63	5.6	4.41	0.53225	Dynein heavy chain (1);	0.162449	0.52532	D	0.000067	T	0.43942	0.1270	H	0.98612	4.28	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.72625	0.962;0.978	T	0.65100	-0.6250	10	0.87932	D	0	.	12.1872	0.54245	0.8718:0.0:0.0:0.1282	.	3845;3881	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	F	4086;4086;3881;3845	ENSP00000333363:I4086F;ENSP00000352312:I3881F;ENSP00000402294:I3845F	ENSP00000333363:I4086F	I	+	1	0	DNAH8	39027115	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.045000	0.71020	1.027000	0.39758	0.533000	0.62120	ATT		0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38919137	A	T	38919137	3	4	34	1	0	0	0	0	1	0	0	0	4609	449	16	5	11951	5	DNAH8	6	38919137	Missense_Mutation	SNP	A	TCGA-5P-A9K3-01A-11D-A42J-10	3871703	38919137	132195930	18	2468											
PKHD1	5314	hgsc.bcm.edu	37	6	51524419	51524419	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr6:51524419T>A	ENST00000371117.3	-	61	10780	c.10505A>T	c.(10504-10506)gAg>gTg	p.E3502V		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3502			E -> V (in ARPKD). {ECO:0000269|PubMed:12846734}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCTCTGGAGCTCATGGTAGAA	0.443																																																0			GRCh37	CM032337	PKHD1	M							64	65	64					6																	51524419		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10505A>T	chr6.hg19:g.51524419T>A	ENSP00000360158:p.Glu3502Val		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502052	0.64298	.	.	ENSG00000170927	ENST00000371117	D	0.86366	-2.11	5.72	5.72	0.89469	.	0.080901	0.52532	D	0.000070	D	0.84995	0.5596	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.84626	0.0687	10	0.30854	T	0.27	.	11.2211	0.48855	0.0:0.0:0.1531:0.8469	.	3502	P08F94	PKHD1_HUMAN	V	3502	ENSP00000360158:E3502V	ENSP00000360158:E3502V	E	-	2	0	PKHD1	51632378	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.238000	0.51352	2.177000	0.69029	0.533000	0.62120	GAG		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51524419	T	A	51524419	3	1	34	1	0	0	0	0	1	0	0	0	11973	1551	54	5	1747	5	PKHD1	6	51524419	Missense_Mutation	SNP	T	TCGA-5P-A9K3-01A-11D-A42J-10	12605282	51524419	119590648	19	2469											
ZNF92	168374	hgsc.bcm.edu	37	7	64863907	64863907	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr7:64863907T>A	ENST00000328747.7	+	4	1079	c.880T>A	c.(880-882)Ttt>Att	p.F294I	ZNF92_ENST00000450302.2_Missense_Mutation_p.F225I|ZNF92_ENST00000431504.1_Missense_Mutation_p.F218I|ZNF92_ENST00000357512.2_Missense_Mutation_p.F262I	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	294					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TGGCAAGGCCTTTAACCAGTT	0.358																																																0													33	37	36					7																	64863907		2198	4290	6488	SO:0001583	missense	168374			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.880T>A	chr7.hg19:g.64863907T>A	ENSP00000332595:p.Phe294Ile		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	ENST00000328747.7	hg19	CCDS34646.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711240	0.48517	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.47528	0.87;0.84;0.84;0.84	0.427	0.427	0.16489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65091	0.2658	M	0.85373	2.75	0.34231	D	0.676527	D;D	0.89917	0.999;1.0	D;D	0.97110	0.932;1.0	T	0.69308	-0.5179	9	0.66056	D	0.02	.	5.1591	0.15050	0.0:1.0E-4:0.0:0.9999	.	262;294	Q03936-3;Q03936	.;ZNF92_HUMAN	I	294;218;262;225	ENSP00000332595:F294I;ENSP00000400495:F218I;ENSP00000350113:F262I;ENSP00000396126:F225I	ENSP00000332595:F294I	F	+	1	0	ZNF92	64501342	1.000000	0.71417	0.022000	0.16811	0.022000	0.10575	5.518000	0.67068	0.388000	0.25054	0.383000	0.25322	TTT		0.358	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		A	64863907	T	A	64863907	3	1	34	1	0	0	0	0	1	0	0	0	18206	1609	56	5	894	5	ZNF92	7	64863907	Missense_Mutation	SNP	T	TCGA-5P-A9K3-01A-11D-A42J-10		64863907	94274756	20	2470											
CYP51A1	1595	hgsc.bcm.edu	37	7	91755569	91755569	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr7:91755569G>T	ENST00000003100.8	-	5	933	c.768C>A	c.(766-768)ttC>ttA	p.F256L	CYP51A1_ENST00000450723.1_Missense_Mutation_p.F151L|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	250					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	ATCCATACCTGAAACTAGGCA	0.373																																					GBM(70;1100 1190 11592 25836 51397)											0													31	27	29					7																	91755569		2203	4299	6502	SO:0001583	missense	1595			U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"Cytochrome P450s"	2649	protein-coding gene	gene with protein product		601637	"cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.768C>A	chr7.hg19:g.91755569G>T	ENSP00000003100:p.Phe256Leu		A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	ENST00000003100.8	hg19	CCDS5623.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667382	0.96745	.	.	ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723	T;T	0.68025	-0.3;-0.3	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.83118	2.625	0.80722	D	1	P;P	0.51240	0.929;0.943	P;P	0.57776	0.712;0.827	T	0.82989	-0.0183	10	0.54805	T	0.06	.	19.6188	0.95647	0.0:0.0:1.0:0.0	.	196;250	B3KRC6;Q16850	.;CP51A_HUMAN	L	256;196;151	ENSP00000003100:F256L;ENSP00000406757:F151L	ENSP00000003100:F256L	F	-	3	2	CYP51A1	91593505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.788000	0.99064	2.699000	0.92147	0.650000	0.86243	TTC		0.373	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			T	91755569	G	T	91755569	3	4	34	1	0	0	0	0	1	0	0	0	4197	1281	45	4	785	4	CYP51A1	7	91755569	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	26891662	91755569	67383094	21	2471											
TRIM4	89122	hgsc.bcm.edu	37	7	99516791	99516791	+	Silent	SNP	G	G	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr7:99516791G>A	ENST00000355947.2	-	1	363	c.234C>T	c.(232-234)cgC>cgT	p.R78R	TRIM4_ENST00000354241.5_Silent_p.R78R|TRIM4_ENST00000349062.2_Silent_p.R78R	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	78					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CGGGGCCCAGGCGCCGGCGCT	0.751																																																0													2	2	2					7																	99516791		1472	3021	4493	SO:0001819	synonymous_variant	89122			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.234C>T	chr7.hg19:g.99516791G>A			A4D298|Q75MK1|Q96F06|Q9C036	Silent	SNP	ENST00000355947.2	hg19	CCDS5679.1																																																																																				0.751	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		A	99516791	G	A	99516791	2	1	34	1	0	0	0	0	0	0	0	1	16519	1190	42	2		2	TRIM4	7	99516791	Silent	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	7761222	99516791	59621872	22	2472											
PARP12	64761	hgsc.bcm.edu	37	7	139762578	139762578	+	Missense_Mutation	SNP	G	G	C	rs201640031	byFrequency	TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr7:139762578G>C	ENST00000263549.3	-	1	943	c.70C>G	c.(70-72)Ccc>Gcc	p.P24A		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	24						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CGCAGCTCGGGCAACTCCAGG	0.786													G|||	11	0.00219649	0.0	0.0072	5008	,	,		7612	0.0		0.006	False		,,,				2504	0.0															0													1	2	1					7																	139762578		1047	2218	3265	SO:0001583	missense	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.70C>G	chr7.hg19:g.139762578G>C	ENSP00000263549:p.Pro24Ala		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	hg19	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.186107	0.01620	.	.	ENSG00000059378	ENST00000263549	T	0.27720	1.65	3.29	-1.02	0.10135	.	0.997579	0.08113	N	0.995896	T	0.08582	0.0213	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35126	-0.9801	10	0.08599	T	0.76	.	6.7623	0.23548	0.0:0.5216:0.314:0.1644	.	24	Q9H0J9	PAR12_HUMAN	A	24	ENSP00000263549:P24A	ENSP00000263549:P24A	P	-	1	0	PARP12	139409047	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	0.832000	0.27490	-0.419000	0.07439	0.561000	0.74099	CCC		0.786	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		C	139762578	G	C	139762578	3	2	34	1	0	0	0	0	1	0	0	0	11459	1203	42	4	2083	4	PARP12	7	139762578	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	40245787	139762578	19376085	23	2473											
RNF19A	25897	hgsc.bcm.edu	37	8	101300044	101300044	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr8:101300044G>C	ENST00000519449.1	-	3	675	c.359C>G	c.(358-360)aCt>aGt	p.T120S	RNF19A_ENST00000341084.2_Missense_Mutation_p.T120S	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	120					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCTGATGGAAGTTAATCCATT	0.378																																																0													112	112	112					8																	101300044		2203	4300	6503	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.359C>G	chr8.hg19:g.101300044G>C	ENSP00000428968:p.Thr120Ser		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	hg19	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145412	0.37825	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.82984	-1.67;-1.67	5.57	5.57	0.84162	.	0.287283	0.38005	N	0.001857	T	0.70237	0.3201	N	0.16478	0.41	0.41573	D	0.988693	B	0.02656	0.0	B	0.01281	0.0	T	0.64997	-0.6275	10	0.14656	T	0.56	.	14.8593	0.70366	0.0:0.0:0.8558:0.1442	.	120	Q9NV58	RN19A_HUMAN	S	120	ENSP00000428968:T120S;ENSP00000342667:T120S	ENSP00000342667:T120S	T	-	2	0	RNF19A	101369220	1.000000	0.71417	0.984000	0.44739	0.975000	0.68041	3.867000	0.56047	2.606000	0.88127	0.650000	0.86243	ACT		0.378	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		C	101300044	G	C	101300044	3	2	34	1	0	0	0	0	1	0	0	0	13476	1029	36	4	2193	4	RNF19A	8	101300044	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10		101300044	45063978	24	2474											
ZC3H3	23144	hgsc.bcm.edu	37	8	144522390	144522390	+	Missense_Mutation	SNP	G	G	T	rs267601811		TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr8:144522390G>T	ENST00000262577.5	-	11	2667	c.2636C>A	c.(2635-2637)tCc>tAc	p.S879Y		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.S879F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			aggggatgaggaggaggagga	0.657																																																1	Substitution - Missense(1)	skin(1)											30	29	29					8																	144522390		2203	4298	6501	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2636C>A	chr8.hg19:g.144522390G>T	ENSP00000262577:p.Ser879Tyr		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	hg19	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263668	0.59431	.	.	ENSG00000014164	ENST00000262577	T	0.58210	0.35	4.04	4.04	0.47022	.	0.788333	0.10701	N	0.643991	T	0.45716	0.1356	L	0.27053	0.805	0.09310	N	1	P	0.50943	0.94	P	0.44860	0.462	T	0.37244	-0.9714	10	0.66056	D	0.02	-3.2232	12.9046	0.58145	0.0:0.0:1.0:0.0	.	879	Q8IXZ2	ZC3H3_HUMAN	Y	879	ENSP00000262577:S879Y	ENSP00000262577:S879Y	S	-	2	0	ZC3H3	144593533	0.025000	0.19082	0.006000	0.13384	0.122000	0.20287	2.137000	0.42130	1.831000	0.53308	0.467000	0.42956	TCC		0.657	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		T	144522390	G	T	144522390	3	4	34	1	0	0	0	0	1	0	0	0	17574	1174	41	4	218	4	ZC3H3	8	144522390	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	43222346	144522390	1841632	25	2475											
ZNF16	7564	hgsc.bcm.edu	37	8	146157588	146157588	+	Silent	SNP	G	G	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr8:146157588G>A	ENST00000276816.4	-	4	771	c.585C>T	c.(583-585)gaC>gaT	p.D195D	ZNF16_ENST00000394909.2_Silent_p.D195D	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	195	Necessary for transcription activation.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GACCAGTTAGGTCCACACTGT	0.493																																																0													121	114	116					8																	146157588		2203	4300	6503	SO:0001819	synonymous_variant	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.585C>T	chr8.hg19:g.146157588G>A			B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	ENST00000276816.4	hg19	CCDS6437.1																																																																																				0.493	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		A	146157588	G	A	146157588	2	1	34	1	0	0	0	0	0	0	0	1	17743	1252	44	2		2	ZNF16	8	146157588	Silent	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	1635198	146157588	206434	26	2476											
SECISBP2	79048	hgsc.bcm.edu	37	9	91961869	91961869	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr9:91961869delC	ENST00000375807.3	+	11	1579	c.1508delC	c.(1507-1509)accfs	p.T503fs	SECISBP2_ENST00000339901.4_Frame_Shift_Del_p.T430fs|SECISBP2_ENST00000534113.2_Frame_Shift_Del_p.T435fs	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	503					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CAAATGAAGACCCCGCACAAT	0.552																																																0													87	82	84					9																	91961869		2203	4300	6503	SO:0001589	frameshift_variant	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1508delC	chr9.hg19:g.91961869delC	ENSP00000364965:p.Thr503fs		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Frame_Shift_Del	DEL	ENST00000375807.3	hg19	CCDS6683.1																																																																																				0.552	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		-	91961869	C	-	91961869	7	5	34	1	0	1	0	1	0	0	0	0	14012	507	18	0	1550	0	SECISBP2	9	91961869	Frame_Shift_Del	DEL	C	TCGA-5P-A9K3-01A-11D-A42J-10		91961869	49251562	27	2477											
C9orf172	389813	hgsc.bcm.edu	37	9	139741257	139741257	+	Silent	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr9:139741257C>T	ENST00000436881.1	+	1	2391	c.2391C>T	c.(2389-2391)cgC>cgT	p.R797R	PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	797										endometrium(2)|large_intestine(1)|lung(6)	9						GCTACGCGCGCGAGCTGGCGG	0.721																																																0													8	8	8					9																	139741257		1367	3002	4369	SO:0001819	synonymous_variant	389813				CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2391C>T	chr9.hg19:g.139741257C>T				Silent	SNP	ENST00000436881.1	hg19	CCDS48059.1																																																																																				0.721	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		T	139741257	C	T	139741257	2	4	34	1	0	0	0	0	0	0	0	1	2473	755	27	1		1	C9orf172	9	139741257	Silent	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	47779388	139741257	1472174	28	2478											
IDE	3416	hgsc.bcm.edu	37	10	94250353	94250353	+	Splice_Site	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr10:94250353C>T	ENST00000265986.6	-	12	1487		c.e12-1		IDE_ENST00000496903.1_Splice_Site|IDE_ENST00000371581.5_Splice_Site	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme						beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TATGGCAACCCTAGAGATAGA	0.348																																																0													133	133	133					10																	94250353		2203	4300	6503	SO:0001630	splice_region_variant	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1431-1G>A	chr10.hg19:g.94250353C>T			B2R721|B7ZAU2|D3DR35|Q5T5N2	Splice_Site	SNP	ENST00000265986.6	hg19	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.195005	0.78902	.	.	ENSG00000119912	ENST00000265986	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.803	0.88593	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IDE	94240333	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.272000	0.78516	2.616000	0.88540	0.655000	0.94253	.		0.348	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	Intron	T	94250353	C	T	94250353	5	4	34	1	0	0	0	0	0	0	1	0	7495	695	24	2	1685	2	IDE	10	94250353	Splice_Site	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10		94250353	41284394	29	2479											
CNNM2	54805	hgsc.bcm.edu	37	10	104678741	104678741	+	Silent	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr10:104678741C>T	ENST00000369878.4	+	1	692	c.504C>T	c.(502-504)cgC>cgT	p.R168R	CNNM2_ENST00000433628.2_Silent_p.R168R|CNNM2_ENST00000369875.3_Silent_p.R168R	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	168					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCAACCGCCGCACCTCGGGCA	0.642																																																0													130	141	137					10																	104678741		2199	4299	6498	SO:0001819	synonymous_variant	54805			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.504C>T	chr10.hg19:g.104678741C>T			Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	hg19	CCDS44474.1																																																																																				0.642	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		T	104678741	C	T	104678741	2	4	34	1	0	0	0	0	0	0	0	1	3615	697	25	2		2	CNNM2	10	104678741	Silent	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	10428388	104678741	30856006	30	2480											
PDZD8	118987	hgsc.bcm.edu	37	10	119044221	119044221	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr10:119044221C>T	ENST00000334464.5	-	5	2262	c.2023G>A	c.(2023-2025)Gac>Aac	p.D675N	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	675					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTTTGACGGTCGTCCGAACTG	0.428																																																0													98	96	97					10																	119044221		2203	4300	6503	SO:0001583	missense	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2023G>A	chr10.hg19:g.119044221C>T	ENSP00000334642:p.Asp675Asn		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	hg19	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156972	0.57259	.	.	ENSG00000165650	ENST00000334464	D	0.88975	-2.45	5.87	5.87	0.94306	.	0.100838	0.64402	D	0.000002	D	0.91168	0.7218	L	0.32530	0.975	0.54753	D	0.999988	D	0.76494	0.999	P	0.61275	0.886	D	0.91308	0.5072	10	0.59425	D	0.04	-20.2619	20.2043	0.98273	0.0:1.0:0.0:0.0	.	675	Q8NEN9	PDZD8_HUMAN	N	675	ENSP00000334642:D675N	ENSP00000334642:D675N	D	-	1	0	PDZD8	119034211	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	5.774000	0.68906	2.779000	0.95612	0.591000	0.81541	GAC		0.428	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		T	119044221	C	T	119044221	3	4	34	1	0	0	0	0	1	0	0	0	11707	884	31	1	1445	1	PDZD8	10	119044221	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	14365480	119044221	16490526	31	2481											
DENND5A	23258	hgsc.bcm.edu	37	11	9187516	9187517	+	Splice_Site	INS	-	-	AGAA			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr11:9187516_9187517insAGAA	ENST00000328194.3	-	11	2472		c.e11-2		DENND5A_ENST00000527700.1_Splice_Site|DENND5A_ENST00000530044.1_Splice_Site	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A						positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GATGTACTTCTATATCAAACAG	0.45																																																0																																										SO:0001630	splice_region_variant	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2152-2->TTCT	chr11.hg19:g.9187516_9187517insAGAA			B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Splice_Site	INS	ENST00000328194.3	hg19	CCDS31423.1																																																																																				0.45	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213	Intron	AGAA	9187517	-	AGAA	9187516	8	5	34	1	0	1	1	0	0	0	1	0	4438	1536	53	0	1765	0	DENND5A	11	9187516	Splice_Site	INS	-	TCGA-5P-A9K3-01A-11D-A42J-10		9187516	125819000	32	2482											
PRPF19	27339	hgsc.bcm.edu	37	11	60666069	60666069	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr11:60666069C>T	ENST00000227524.4	-	13	1289	c.1084G>A	c.(1084-1086)Gga>Aga	p.G362R		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AAGATGAGTCCGTCAGGGTGG	0.562																																																0													95	84	88					11																	60666069		2203	4299	6502	SO:0001583	missense	27339			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1084G>A	chr11.hg19:g.60666069C>T	ENSP00000227524:p.Gly362Arg			Missense_Mutation	SNP	ENST00000227524.4	hg19	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267928	0.95429	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	D;T	0.84873	-1.91;4.45	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);Ricin B lectin (1);	0.000000	0.85682	D	0.000000	D	0.94548	0.8244	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95597	0.8659	10	0.87932	D	0	-9.6313	18.4838	0.90821	0.0:1.0:0.0:0.0	.	362	Q9UMS4	PRP19_HUMAN	R	362;34	ENSP00000227524:G362R;ENSP00000445435:G34R	ENSP00000227524:G362R	G	-	1	0	PRPF19	60422645	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	7.296000	0.78790	2.683000	0.91414	0.655000	0.94253	GGA		0.562	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		T	60666069	C	T	60666069	3	4	34	1	0	0	0	0	1	0	0	0	12569	661	23	1	446	1	PRPF19	11	60666069	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	51478553	60666069	74340447	33	2483											
SART1	9092	hgsc.bcm.edu	37	11	65744127	65744127	+	Splice_Site	SNP	G	G	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr11:65744127G>C	ENST00000312397.5	+	14	1839	c.1747G>C	c.(1747-1749)Gac>Cac	p.D583H		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	583					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGTGCCCCAGGACTTTGAACG	0.667																																																0													28	28	28					11																	65744127		2201	4296	6497	SO:0001630	splice_region_variant	9092			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"	605941	"squamous cell carcinoma antigen recognised by T cells"			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1747-1G>C	chr11.hg19:g.65744127G>C			A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	hg19	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123380	0.56613	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.25250	1.81	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.50849	-0.8779	9	.	.	.	-25.3255	13.9074	0.63845	0.0:0.0:1.0:0.0	.	583	O43290	SNUT1_HUMAN	H	583;425	ENSP00000310448:D583H	.	D	+	1	0	SART1	65500703	1.000000	0.71417	0.959000	0.39883	0.111000	0.19643	8.804000	0.91921	2.131000	0.65755	0.491000	0.48974	GAC		0.667	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1		Missense_Mutation	C	65744127	G	C	65744127	5	2	34	1	0	0	0	0	0	0	1	0	13852	1188	41	4	1801	4	SART1	11	65744127	Splice_Site	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	5078058	65744127	69262389	34	2484											
LRFN4	78999	hgsc.bcm.edu	37	11	66627359	66627359	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr11:66627359C>G	ENST00000309602.4	+	2	1844	c.1601C>G	c.(1600-1602)aCt>aGt	p.T534S	PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	534						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CTGGTCTTCACTGTGGCCTTG	0.716																																																0													36	29	31					11																	66627359		2190	4283	6473	SO:0001583	missense	78999			BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1601C>G	chr11.hg19:g.66627359C>G	ENSP00000312535:p.Thr534Ser		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	hg19	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003128	0.74932	.	.	ENSG00000173621	ENST00000309602	T	0.49139	0.79	4.79	3.88	0.44766	.	0.399801	0.18584	N	0.136948	T	0.44052	0.1275	L	0.29908	0.895	0.80722	D	1	P	0.52170	0.951	P	0.52031	0.688	T	0.11891	-1.0569	10	0.23891	T	0.37	.	10.7673	0.46301	0.0:0.9054:0.0:0.0946	.	534	Q6PJG9	LRFN4_HUMAN	S	534	ENSP00000312535:T534S	ENSP00000312535:T534S	T	+	2	0	LRFN4	66383935	0.587000	0.26791	1.000000	0.80357	0.997000	0.91878	1.223000	0.32527	1.023000	0.39654	0.462000	0.41574	ACT		0.716	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		G	66627359	C	G	66627359	3	3	34	1	0	0	0	0	1	0	0	0	8942	565	20	4	1607	4	LRFN4	11	66627359	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	883232	66627359	68379157	35	2485											
LRRC32	2615	hgsc.bcm.edu	37	11	76372150	76372150	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr11:76372150G>A	ENST00000407242.2	-	3	729	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R163C|LRRC32_ENST00000260061.5_Missense_Mutation_p.R163C	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	163					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CGGGTGAGGCGAGTCAGACTG	0.642																																																0													70	70	70					11																	76372150		2200	4292	6492	SO:0001583	missense	2615			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.487C>T	chr11.hg19:g.76372150G>A	ENSP00000384126:p.Arg163Cys		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	hg19	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685814	0.47991	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	T;T;T;T	0.80123	-1.34;-1.34;-1.34;0.34	4.43	4.43	0.53597	.	0.344997	0.29028	N	0.013367	D	0.82559	0.5063	L	0.58925	1.835	0.20196	N	0.999927	D;D	0.71674	0.996;0.998	P;P	0.57846	0.828;0.828	T	0.73717	-0.3895	10	0.45353	T	0.12	.	7.4961	0.27490	0.0:0.145:0.5544:0.3006	.	163;163	C9JYU3;Q14392	.;LRC32_HUMAN	C	163	ENSP00000260061:R163C;ENSP00000384126:R163C;ENSP00000385766:R163C;ENSP00000413331:R163C	ENSP00000260061:R163C	R	-	1	0	LRRC32	76049798	0.793000	0.28825	0.183000	0.23137	0.772000	0.43724	2.399000	0.44495	2.306000	0.77630	0.462000	0.41574	CGC		0.642	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		A	76372150	G	A	76372150	3	1	34	1	0	0	0	0	1	0	0	0	8989	1058	37	1	1505	1	LRRC32	11	76372150	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	9744791	76372150	58634366	36	2486											
MYO7A	4647	hgsc.bcm.edu	37	11	76872079	76872079	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr11:76872079C>T	ENST00000409709.3	+	12	1533	c.1261C>T	c.(1261-1263)Cct>Tct	p.P421S	MYO7A_ENST00000409893.1_Missense_Mutation_p.P421S|MYO7A_ENST00000409619.2_Missense_Mutation_p.P410S|MYO7A_ENST00000458637.2_Missense_Mutation_p.P421S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	421	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AATTTACAAGCCTCCCTCCCA	0.562																																																0													100	110	107					11																	76872079		2051	4183	6234	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1261C>T	chr11.hg19:g.76872079C>T	ENSP00000386331:p.Pro421Ser		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	hg19	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965660	0.74131	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.34	5.34	0.76211	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	L	0.60957	1.885	0.80722	D	1	B;B;B	0.28128	0.201;0.107;0.197	B;B;B	0.35278	0.199;0.127;0.113	T	0.71237	-0.4652	10	0.48119	T	0.1	.	19.0292	0.92948	0.0:1.0:0.0:0.0	.	421;421;421	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	S	421;421;421;410;420;420;343;420	ENSP00000386331:P421S;ENSP00000386689:P421S;ENSP00000392185:P421S;ENSP00000386635:P410S	ENSP00000345075:P343S	P	+	1	0	MYO7A	76549727	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	6.006000	0.70724	2.486000	0.83907	0.585000	0.79938	CCT		0.562	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		T	76872079	C	T	76872079	3	4	34	1	0	0	0	0	1	0	0	0	10084	739	26	2	1303	2	MYO7A	11	76872079	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	499929	76872079	58134437	37	2487											
CLEC1A	51267	hgsc.bcm.edu	37	12	10251426	10251426	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr12:10251426A>C	ENST00000315330.4	-	1	158	c.96T>G	c.(94-96)caT>caG	p.H32Q	CLEC1A_ENST00000457018.2_Missense_Mutation_p.H32Q|CLEC1A_ENST00000420265.2_Missense_Mutation_p.H32Q	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	32					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GGGGCTCTGGATGCCGAGTTG	0.542																																																0													82	71	75					12																	10251426		2203	4300	6503	SO:0001583	missense	51267			AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.96T>G	chr12.hg19:g.10251426A>C	ENSP00000326407:p.His32Gln		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	hg19	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	A	9.945	1.218431	0.22373	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265;ENST00000414501	T;T;T;T	0.41065	5.06;5.17;5.01;1.01	5.55	-5.06	0.02946	.	0.256382	0.26851	N	0.022167	T	0.11879	0.0289	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17501	-1.0367	10	0.13853	T	0.58	.	0.9013	0.01274	0.2277:0.2131:0.3272:0.232	.	32;32;32	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	Q	32	ENSP00000326407:H32Q;ENSP00000415048:H32Q;ENSP00000417010:H32Q;ENSP00000396272:H32Q	ENSP00000326407:H32Q	H	-	3	2	CLEC1A	10142693	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.426000	0.02443	-0.573000	0.05998	-0.173000	0.13275	CAT		0.542	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		C	10251426	A	C	10251426	3	2	34	1	0	0	0	0	1	0	0	0	3507	330	12	5	770	5	CLEC1A	12	10251426	Missense_Mutation	SNP	A	TCGA-5P-A9K3-01A-11D-A42J-10		10251426	123600469	38	2488											
SLC2A13	114134	hgsc.bcm.edu	37	12	40422123	40422134	+	In_Frame_Del	DEL	TCCTCTTCAATG	TCCTCTTCAATG	-	rs375574046		TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	TCCTCTTCAATG	TCCTCTTCAATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr12:40422123_40422134delTCCTCTTCAATG	ENST00000280871.4	-	3	944_955	c.894_905delCATTGAAGAGGA	c.(892-906)aacattgaagaggag>aag	p.298_302NIEEE>K	SLC2A13_ENST00000380858.1_In_Frame_Del_p.298_302NIEEE>K	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	298					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CTCTTTTTCCTCCTCTTCAATGTTGTTTTTGA	0.363										HNSCC(50;0.14)																																						0																																										SO:0001651	inframe_deletion	114134			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.894_905delCATTGAAGAGGA	chr12.hg19:g.40422123_40422134delTCCTCTTCAATG	ENSP00000280871:p.Asn298_Glu302delinsLys		Q17S07	In_Frame_Del	DEL	ENST00000280871.4	hg19	CCDS8736.2																																																																																				0.363	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			-	40422134	TCCTCTTCAATG	-	40422123	7	5	34	1	0	1	0	1	0	0	0	0	14548	1551	54	0	1073	0	SLC2A13	12	40422123	In_Frame_Del	DEL	TCCTCTTCAATG	TCGA-5P-A9K3-01A-11D-A42J-10	30170697	40422123	93429772	39	2489											
ADAMTS20	80070	hgsc.bcm.edu	37	12	43896178	43896178	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr12:43896178A>C	ENST00000389420.3	-	4	643	c.644T>G	c.(643-645)tTt>tGt	p.F215C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F215C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	215					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAGGTATGAAAGGGTAAACT	0.313																																																0													145	161	155					12																	43896178		2203	4299	6502	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.644T>G	chr12.hg19:g.43896178A>C	ENSP00000374071:p.Phe215Cys		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	hg19	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	9.204	1.029127	0.19512	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.61274	0.29;0.12	4.66	2.31	0.28768	.	0.677370	0.13497	N	0.383543	T	0.39545	0.1082	L	0.27053	0.805	0.21184	N	0.999766	B	0.06786	0.001	B	0.10450	0.005	T	0.23833	-1.0177	10	0.38643	T	0.18	.	4.8737	0.13646	0.6866:0.0:0.1669:0.1464	.	215	P59510	ATS20_HUMAN	C	215	ENSP00000374071:F215C;ENSP00000448341:F215C	ENSP00000374068:F215C	F	-	2	0	ADAMTS20	42182445	1.000000	0.71417	0.012000	0.15200	0.175000	0.22909	2.224000	0.42945	0.379000	0.24794	0.533000	0.62120	TTT		0.313	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		C	43896178	A	C	43896178	3	2	34	1	0	0	0	0	1	0	0	0	266	14	1	5	5231	5	ADAMTS20	12	43896178	Missense_Mutation	SNP	A	TCGA-5P-A9K3-01A-11D-A42J-10	3474055	43896178	89955717	40	2490											
FKBP11	51303	hgsc.bcm.edu	37	12	49317595	49317596	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr12:49317595_49317596delCA	ENST00000550765.1	-	5	755_756	c.357_358delTG	c.(355-360)tatggafs	p.YG119fs	CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000444214.2_Frame_Shift_Del_p.YG17fs|AC073610.5_ENST00000537495.1_Intron|RP11-302B13.5_ENST00000398092.4_Intron|FKBP11_ENST00000552878.1_Frame_Shift_Del_p.YG119fs|FKBP11_ENST00000453172.2_Frame_Shift_Del_p.YG119fs	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	119	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(3)|lung(1)	5						CCCCGTTTTCCATAGGCCAAGT	0.51																																																0																																										SO:0001589	frameshift_variant	51303			AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"FK506 binding protein 11 (19 kDa)"			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.357_358delTG	chr12.hg19:g.49317595_49317596delCA	ENSP00000449751:p.Tyr119fs		B4DWB7	Frame_Shift_Del	DEL	ENST00000550765.1	hg19	CCDS8773.1																																																																																				0.51	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594		-	49317596	CA	-	49317595	7	5	34	1	0	1	0	1	0	0	0	0	5905	603	21	0	312	0	FKBP11	12	49317595	Frame_Shift_Del	DEL	CA	TCGA-5P-A9K3-01A-11D-A42J-10	5421417	49317595	84534300	41	2491											
PPP1R12A	4659	hgsc.bcm.edu	37	12	80182551	80182551	+	Silent	SNP	A	A	G			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr12:80182551A>G	ENST00000450142.2	-	21	2945	c.2679T>C	c.(2677-2679)agT>agC	p.S893S	PPP1R12A_ENST00000437004.2_Silent_p.S893S|PPP1R12A_ENST00000550107.1_Silent_p.S837S|PPP1R12A_ENST00000546369.1_Silent_p.S806S|PPP1R12A_ENST00000261207.5_Silent_p.S893S	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	893					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CTGATGTAGAACTGGTTTCAT	0.348																																																0													39	37	38					12																	80182551		1805	4080	5885	SO:0001819	synonymous_variant	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2679T>C	chr12.hg19:g.80182551A>G			B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Silent	SNP	ENST00000450142.2	hg19	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	A	9.444	1.088753	0.20390	.	.	ENSG00000058272	ENST00000550299	.	.	.	5.94	3.48	0.39840	.	.	.	.	.	T	0.55114	0.1900	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50457	-0.8826	4	.	.	.	.	6.2542	0.20864	0.7244:0.0:0.0767:0.1988	.	.	.	.	A	76	.	.	V	-	2	0	PPP1R12A	78706682	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.692000	0.47018	1.079000	0.41038	0.528000	0.53228	GTT		0.348	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		G	80182551	A	G	80182551	2	3	34	1	0	0	0	0	0	0	0	1	12359	40	2	3		3	PPP1R12A	12	80182551	Silent	SNP	A	TCGA-5P-A9K3-01A-11D-A42J-10	30864956	80182551	53669344	42	2492											
MYCBP2	23077	hgsc.bcm.edu	37	13	77742691	77742691	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr13:77742691T>C	ENST00000544440.2	-	40	5889	c.5872A>G	c.(5872-5874)Aat>Gat	p.N1958D	MYCBP2_ENST00000407578.2_Missense_Mutation_p.N1996D|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N1958D|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTCGACTGATTAGGGTTGAAG	0.498																																																0													226	195	205					13																	77742691		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5872A>G	chr13.hg19:g.77742691T>C	ENSP00000444596:p.Asn1958Asp			Missense_Mutation	SNP	ENST00000544440.2	hg19		.	.	.	.	.	.	.	.	.	.	T	19.02	3.745961	0.69418	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28454	1.62;1.61;1.62	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	L	0.29908	0.895	0.58432	D	0.999997	P	0.52842	0.956	D	0.65010	0.931	T	0.13150	-1.0520	10	0.29301	T	0.29	.	16.1459	0.81569	0.0:0.0:0.0:1.0	.	1958	O75592	MYCB2_HUMAN	D	1958;1996;1958	ENSP00000349892:N1958D;ENSP00000384288:N1996D;ENSP00000444596:N1958D	ENSP00000349892:N1958D	N	-	1	0	MYCBP2	76640692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.221000	0.72209	0.528000	0.53228	AAT		0.498	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		C	77742691	T	C	77742691	3	2	34	1	0	0	0	0	1	0	0	0	10020	1754	61	3	8226	3	MYCBP2	13	77742691	Missense_Mutation	SNP	T	TCGA-5P-A9K3-01A-11D-A42J-10		77742691	37427187	43	2493											
ADCY4	196883	hgsc.bcm.edu	37	14	24787720	24787720	+	Silent	SNP	G	G	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr14:24787720G>T	ENST00000310677.4	-	26	3249	c.3136C>A	c.(3136-3138)Cgg>Agg	p.R1046R	ADCY4_ENST00000418030.2_Silent_p.R1046R|ADCY4_ENST00000554068.2_Silent_p.R1046R	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1046					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATGACACCCCGGCTGTAGCAG	0.562																																																0													113	102	106					14																	24787720		2203	4300	6503	SO:0001819	synonymous_variant	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.3136C>A	chr14.hg19:g.24787720G>T			B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	hg19	CCDS9627.1																																																																																				0.562	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			T	24787720	G	T	24787720	2	4	34	1	0	0	0	0	0	0	0	1	296	1115	39	4		4	ADCY4	14	24787720	Silent	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10		24787720	82561820	44	2494											
NIN	51199	hgsc.bcm.edu	37	14	51208398	51208398	+	Silent	SNP	G	G	T	rs142213280		TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr14:51208398G>T	ENST00000382041.3	-	25	5540	c.5350C>A	c.(5350-5352)Cgg>Agg	p.R1784R	NIN_ENST00000389868.3_Silent_p.R1071R|NIN_ENST00000324330.9_Silent_p.R1784R|NIN_ENST00000530997.2_Silent_p.R1784R|NIN_ENST00000245441.5_Silent_p.R1784R|NIN_ENST00000382043.4_Silent_p.R1071R|NIN_ENST00000453196.1_Silent_p.R1784R	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1784					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GATTTCATCCGGGACATTTGC	0.423			T	PDGFRB	MPD																																		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													194	183	187					14																	51208398		2203	4300	6503	SO:0001819	synonymous_variant	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5350C>A	chr14.hg19:g.51208398G>T			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	hg19	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	3.994	-0.003957	0.07773	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.38	4.48	0.54585	.	.	.	.	.	T	0.70954	0.3283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70769	-0.4782	4	.	.	.	0.3126	15.3972	0.74805	0.0:0.1395:0.8605:0.0	.	.	.	.	Q	1274	.	.	P	-	2	0	NIN	50278148	0.565000	0.26610	0.240000	0.24138	0.475000	0.33008	1.835000	0.39181	1.404000	0.46819	0.563000	0.77884	CCG		0.423	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		T	51208398	G	T	51208398	2	4	34	1	0	0	0	0	0	0	0	1	10419	1115	39	4		4	NIN	14	51208398	Silent	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	26420678	51208398	56141142	45	2495											
PLD4	122618	hgsc.bcm.edu	37	14	105395668	105395668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr14:105395668C>T	ENST00000392593.4	+	5	661	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Nonsense_Mutation_p.Q172*	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	165					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GCAGAAGCTGCAGCAGCTGCT	0.647																																																0													14	18	16					14																	105395668		2015	4160	6175	SO:0001587	stop_gained	122618				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.493C>T	chr14.hg19:g.105395668C>T	ENSP00000376372:p.Gln165*		Q6UWD2	Nonsense_Mutation	SNP	ENST00000392593.4	hg19	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	C	32	5.126145	0.94429	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	.	.	.	4.16	0.899	0.19271	.	0.479596	0.20954	N	0.082696	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	0.003	12.7242	0.57162	0.0:0.305:0.695:0.0	.	.	.	.	X	172;165;163	.	ENSP00000376372:Q165X	Q	+	1	0	PLD4	104466713	0.000000	0.05858	0.992000	0.48379	0.986000	0.74619	-0.621000	0.05559	0.190000	0.20209	0.479000	0.44913	CAG		0.647	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		T	105395668	C	T	105395668	4	4	34	1	0	0	0	0	0	1	0	0	12050	711	25	2	507	2	PLD4	14	105395668	Nonsense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	54187270	105395668	1953872	46	2496											
TRPM7	54822	hgsc.bcm.edu	37	15	50904942	50904942	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr15:50904942G>A	ENST00000313478.7	-	16	2136	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S	TRPM7_ENST00000560955.1_Missense_Mutation_p.P619S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	619					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGTGGATAAGGAAAGCGCTTG	0.383																																																0													193	195	194					15																	50904942		1842	4084	5926	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1855C>T	chr15.hg19:g.50904942G>A	ENSP00000320239:p.Pro619Ser		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	hg19	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	9.636	1.137653	0.21123	.	.	ENSG00000092439	ENST00000313478	T	0.73681	-0.77	5.44	3.55	0.40652	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	L	0.32530	0.975	0.49213	D	0.999769	P	0.35745	0.518	B	0.37650	0.255	T	0.51012	-0.8759	10	0.12430	T	0.62	-7.7048	9.4445	0.38688	0.134:0.1185:0.7475:0.0	.	619	Q96QT4	TRPM7_HUMAN	S	619	ENSP00000320239:P619S	ENSP00000320239:P619S	P	-	1	0	TRPM7	48692234	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.773000	0.55333	0.765000	0.33221	0.585000	0.79938	CCT		0.383	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		A	50904942	G	A	50904942	3	1	34	1	0	0	0	0	1	0	0	0	16596	1174	41	2	3838	2	TRPM7	15	50904942	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10		50904942	51626450	47	2497											
THSD4	79875	hgsc.bcm.edu	37	15	72037466	72037466	+	Missense_Mutation	SNP	G	G	A	rs374464107		TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr15:72037466G>A	ENST00000355327.3	+	12	2062	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	THSD4_ENST00000357769.4_Missense_Mutation_p.R283H|THSD4_ENST00000261862.6_Missense_Mutation_p.R643H|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	643					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTATTTTCCGCTGTGTGCAC	0.542																																																0								G	HIS/ARG	0,4006		0,0,2003	297	300	299		1928	2.9	1	15		299	1,8345		0,1,4172	no	missense	THSD4	NM_024817.2	29	0,1,6175	AA,AG,GG		0.012,0.0,0.0081	benign	643/1019	72037466	1,12351	2003	4173	6176	SO:0001583	missense	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1928G>A	chr15.hg19:g.72037466G>A	ENSP00000347484:p.Arg643His		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	hg19	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	7.907	0.735646	0.15574	0.0	1.2E-4	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.61040	0.14;0.14;0.14	4.96	2.87	0.33458	.	.	.	.	.	T	0.34077	0.0885	N	0.14661	0.345	0.37248	D	0.906434	B;B	0.19445	0.017;0.036	B;B	0.14023	0.004;0.01	T	0.17806	-1.0357	9	0.14252	T	0.57	.	8.2784	0.31885	0.2135:0.0:0.7865:0.0	.	283;643	B4DR13;Q6ZMP0	.;THSD4_HUMAN	H	643;643;283	ENSP00000347484:R643H;ENSP00000261862:R643H;ENSP00000350413:R283H	ENSP00000261862:R643H	R	+	2	0	THSD4	69824520	0.648000	0.27313	0.997000	0.53966	0.996000	0.88848	0.393000	0.20817	1.249000	0.43950	0.491000	0.48974	CGC		0.542	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		A	72037466	G	A	72037466	3	1	34	1	0	0	0	0	1	0	0	0	15883	1087	38	1	1970	1	THSD4	15	72037466	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	21132524	72037466	30493926	48	2498											
KIAA0556	23247	hgsc.bcm.edu	37	16	27751558	27751558	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr16:27751558C>T	ENST00000261588.4	+	15	1959	c.1940C>T	c.(1939-1941)gCt>gTt	p.A647V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	647						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CATGAGATGGCTGGTGCCAGC	0.537																																																0													67	64	65					16																	27751558		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1940C>T	chr16.hg19:g.27751558C>T	ENSP00000261588:p.Ala647Val		A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	hg19	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484756	0.44147	.	.	ENSG00000047578	ENST00000261588	T	0.10860	2.83	5.39	2.35	0.29111	.	0.712332	0.14666	N	0.305670	T	0.09512	0.0234	L	0.54323	1.7	0.09310	N	1	P	0.38078	0.617	B	0.34242	0.178	T	0.18999	-1.0319	10	0.41790	T	0.15	-6.6671	5.8366	0.18611	0.1594:0.6626:0.0:0.178	.	647	O60303	K0556_HUMAN	V	647	ENSP00000261588:A647V	ENSP00000261588:A647V	A	+	2	0	KIAA0556	27659059	0.000000	0.05858	0.014000	0.15608	0.110000	0.19582	0.116000	0.15561	1.269000	0.44280	0.655000	0.94253	GCT		0.537	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27751558	C	T	27751558	3	4	34	1	0	0	0	0	1	0	0	0	8185	797	28	2	1998	2	KIAA0556	16	27751558	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10		27751558	62603195	49	2499											
CTCF	10664	hgsc.bcm.edu	37	16	67645250	67645250	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr16:67645250A>G	ENST00000264010.4	+	3	959	c.515A>G	c.(514-516)aAt>aGt	p.N172S	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	172					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTGGGGGCCAATGGAGAGGTG	0.493																																					Colon(175;1200 1966 6945 23069 27405)											0													54	57	56					16																	67645250		2198	4300	6498	SO:0001583	missense	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.515A>G	chr16.hg19:g.67645250A>G	ENSP00000264010:p.Asn172Ser		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	hg19	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.859178	0.51376	.	.	ENSG00000102974	ENST00000264010	T	0.09255	3.0	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.01988	-1.1234	10	0.62326	D	0.03	-4.254	15.5629	0.76262	1.0:0.0:0.0:0.0	.	172	P49711	CTCF_HUMAN	S	172	ENSP00000264010:N172S	ENSP00000264010:N172S	N	+	2	0	CTCF	66202751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.361000	0.66092	2.261000	0.74972	0.533000	0.62120	AAT		0.493	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		G	67645250	A	G	67645250	3	3	34	1	0	0	0	0	1	0	0	0	4002	101	4	3	517	3	CTCF	16	67645250	Missense_Mutation	SNP	A	TCGA-5P-A9K3-01A-11D-A42J-10	39893692	67645250	22709503	50	2500											
TCF25	22980	hgsc.bcm.edu	37	16	89940088	89940089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr16:89940088_89940089insC	ENST00000263346.8	+	1	69_70	c.13_14insC	c.(13-15)gccfs	p.A5fs		NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	5					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTCGCGCCGGGCCCTCCGGAGG	0.678																																																0																																										SO:0001589	frameshift_variant	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.16dupC	chr16.hg19:g.89940091_89940091dupC	ENSP00000263346:p.Ala5fs		Q2MK75|Q9UPV3	Frame_Shift_Ins	INS	ENST00000263346.8	hg19	CCDS10987.1																																																																																				0.678	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		C	89940089	-	C	89940088	7	5	34	1	0	1	1	0	0	0	0	0	15698	1203	42	0	15	0	TCF25	16	89940088	Frame_Shift_Ins	INS	-	TCGA-5P-A9K3-01A-11D-A42J-10	22294838	89940088	414665	51	2501											
TP53	7157	hgsc.bcm.edu	37	17	7579355	7579355	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr17:7579355A>G	ENST00000269305.4	-	4	521	c.332T>C	c.(331-333)cTg>cCg	p.L111P	TP53_ENST00000455263.2_Missense_Mutation_p.L111P|TP53_ENST00000359597.4_Missense_Mutation_p.L111P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.L111P|TP53_ENST00000413465.2_Missense_Mutation_p.L111P|TP53_ENST00000445888.2_Missense_Mutation_p.L111P	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	111	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.L111R(11)|p.0?(8)|p.L111Q(7)|p.L111P(6)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.L111fs*10(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(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)	CAAGAAGCCCAGACGGAAACC	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	43	Substitution - Missense(24)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(2)|Deletion - In frame(1)|Complex - frameshift(1)	lung(9)|upper_aerodigestive_tract(7)|liver(6)|large_intestine(5)|central_nervous_system(4)|bone(4)|breast(4)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|urinary_tract(1)	GRCh37	CX942126	TP53	X							64	60	61					17																	7579355		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.332T>C	chr17.hg19:g.7579355A>G	ENSP00000269305:p.Leu111Pro		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	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.915273	0.73098	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99837	-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99760	0.9903	M	0.81942	2.565	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	0.994;0.992;1.0;0.997;1.0;1.0;0.996	D	0.96946	0.9691	10	0.87932	D	0	-10.3745	12.5363	0.56144	1.0:0.0:0.0:0.0	.	72;111;111;111;111;111;111	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	111	ENSP00000410739:L111P;ENSP00000352610:L111P;ENSP00000269305:L111P;ENSP00000398846:L111P;ENSP00000391127:L111P;ENSP00000391478:L111P;ENSP00000424104:L111P;ENSP00000426252:L111P	ENSP00000269305:L111P	L	-	2	0	TP53	7520080	0.739000	0.28196	0.244000	0.24202	0.958000	0.62258	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	CTG		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7579355	A	G	7579355	3	3	34	1	0	0	0	0	1	0	0	0	16386	188	7	3	970	3	TP53	17	7579355	Missense_Mutation	SNP	A	TCGA-5P-A9K3-01A-11D-A42J-10		7579355	73615855	52	2502											
FBXO47	494188	hgsc.bcm.edu	37	17	37099134	37099134	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr17:37099134A>T	ENST00000378079.2	-	9	1179	c.980T>A	c.(979-981)cTc>cAc	p.L327H		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	327										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TAGCATTAGGAGACGTGCATT	0.403																																																0													98	91	93					17																	37099134		2203	4300	6503	SO:0001583	missense	494188				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.980T>A	chr17.hg19:g.37099134A>T	ENSP00000367319:p.Leu327His		B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	hg19	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.558184	0.65538	.	.	ENSG00000204952	ENST00000378079	T	0.61158	0.13	5.9	4.8	0.61643	.	0.254055	0.40385	N	0.001113	T	0.71609	0.3360	M	0.66939	2.045	0.34792	D	0.735817	D	0.89917	1.0	D	0.67231	0.95	T	0.80763	-0.1237	10	0.87932	D	0	-13.2646	12.1337	0.53957	0.8566:0.1434:0.0:0.0	.	327	Q5MNV8	FBX47_HUMAN	H	327	ENSP00000367319:L327H	ENSP00000367319:L327H	L	-	2	0	FBXO47	34352660	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.161000	0.77505	1.013000	0.39391	0.482000	0.46254	CTC		0.403	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		T	37099134	A	T	37099134	3	4	34	1	0	0	0	0	1	0	0	0	5758	304	11	5	390	5	FBXO47	17	37099134	Missense_Mutation	SNP	A	TCGA-5P-A9K3-01A-11D-A42J-10	29519779	37099134	44096076	53	2503											
RAB40B	10966	hgsc.bcm.edu	37	17	80656364	80656364	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr17:80656364C>G	ENST00000571995.1	-	1	240	c.109G>C	c.(109-111)Ggc>Cgc	p.G37R	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Missense_Mutation_p.G37R	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	37					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TCGGCCGCGCCATCCTGCAGG	0.771																																																0													20	20	20					17																	80656364		2193	4292	6485	SO:0001583	missense	10966			U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"RAB, member RAS oncogene"	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.109G>C	chr17.hg19:g.80656364C>G	ENSP00000461785:p.Gly37Arg		Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	hg19	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	c	22.0	4.225081	0.79576	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	3.06	0.941	0.19519	Small GTP-binding protein domain (1);	0.086007	0.44902	U	0.000415	T	0.62648	0.2445	L	0.42581	1.335	0.50039	D	0.999846	D	0.71674	0.998	D	0.74674	0.984	T	0.60505	-0.7250	9	0.62326	D	0.03	.	7.9072	0.29769	0.0:0.7395:0.1633:0.0972	.	37	Q12829	RB40B_HUMAN	R	37;71	.	ENSP00000269347:G37R	G	-	1	0	RAB40B	78249653	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	3.169000	0.50809	0.312000	0.23038	-0.738000	0.03535	GGC		0.771	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			G	80656364	C	G	80656364	3	3	34	1	0	0	0	0	1	0	0	0	12947	594	21	4	751	4	RAB40B	17	80656364	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	43557230	80656364	538846	54	2504											
LAMA3	3909	hgsc.bcm.edu	37	18	21530086	21530086	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr18:21530086C>T	ENST00000313654.9	+	72	9846	c.9605C>T	c.(9604-9606)cCc>cTc	p.P3202L	LAMA3_ENST00000587184.1_Missense_Mutation_p.P1537L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.P1593L|LAMA3_ENST00000399516.3_Missense_Mutation_p.P3146L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3202	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGAAGTCAGCCCGGGAAGCAC	0.498																																																0													106	103	104					18																	21530086		2203	4300	6503	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9605C>T	chr18.hg19:g.21530086C>T	ENSP00000324532:p.Pro3202Leu		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	hg19	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208505	0.39003	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.79554	-1.28;-1.28;-1.28	5.7	1.77	0.24775	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.75781	0.3896	L	0.31294	0.92	0.09310	N	1	P;P;P;D	0.53462	0.822;0.734;0.849;0.96	B;B;B;P	0.54965	0.419;0.342;0.438;0.765	T	0.62525	-0.6836	9	0.36615	T	0.2	.	4.5329	0.12013	0.3242:0.3871:0.2215:0.0672	.	1537;1593;3146;3202	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	L	3202;3146;1593	ENSP00000324532:P3202L;ENSP00000382432:P3146L;ENSP00000269217:P1593L	ENSP00000269217:P1593L	P	+	2	0	LAMA3	19784084	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	-0.439000	0.06897	0.036000	0.15547	0.655000	0.94253	CCC		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21530086	C	T	21530086	3	4	34	1	0	0	0	0	1	0	0	0	8609	623	22	2	10066	2	LAMA3	18	21530086	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10		21530086	56547162	55	2505											
CALR	811	hgsc.bcm.edu	37	19	13050917	13050917	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr19:13050917T>C	ENST00000316448.5	+	4	521	c.448T>C	c.(448-450)Tac>Cac	p.Y150H		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	150	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	CATCTTCAACTACAAGGGCAA	0.532																																																0													124	102	109					19																	13050917		2203	4300	6503	SO:0001583	missense	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.448T>C	chr19.hg19:g.13050917T>C	ENSP00000320866:p.Tyr150His		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	hg19	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004029	0.74932	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	T	0.50277	0.75	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	L	0.54323	1.7	0.80722	D	1	B	0.18310	0.027	B	0.32533	0.147	T	0.43605	-0.9381	10	0.37606	T	0.19	-30.8317	14.9384	0.70975	0.0:0.0:0.0:1.0	.	150	P27797	CALR_HUMAN	H	150;29	ENSP00000320866:Y150H	ENSP00000320866:Y150H	Y	+	1	0	CALR	12911917	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.875000	0.87205	2.173000	0.68751	0.459000	0.35465	TAC		0.532	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		C	13050917	T	C	13050917	3	2	34	1	0	0	0	0	1	0	0	0	2594	1522	53	3	462	3	CALR	19	13050917	Missense_Mutation	SNP	T	TCGA-5P-A9K3-01A-11D-A42J-10		13050917	46078066	56	2506											
GADD45GIP1	90480	hgsc.bcm.edu	37	19	13065098	13065098	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr19:13065098T>G	ENST00000316939.1	-	2	616	c.593A>C	c.(592-594)aAg>aCg	p.K198T		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	198					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						CGCCTCCTTCTTCCGTTTCTG	0.602																																																0													71	75	74					19																	13065098		2203	4300	6503	SO:0001583	missense	90480			AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"papillomavirus L2 interacting nuclear protein 1", "CKII beta binding protein 2", "CR6 interacting factor 1", "p53-responsive gene 6"	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.593A>C	chr19.hg19:g.13065098T>G	ENSP00000323065:p.Lys198Thr		Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	hg19	CCDS12290.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648449	0.47258	.	.	ENSG00000179271	ENST00000316939	.	.	.	5.04	4.01	0.46588	.	0.170944	0.48286	D	0.000189	T	0.68613	0.3020	M	0.75777	2.31	0.46701	D	0.999166	D	0.63880	0.993	D	0.63113	0.911	T	0.68557	-0.5377	9	0.72032	D	0.01	-0.2416	5.6027	0.17363	0.1536:0.0847:0.0:0.7617	.	198	Q8TAE8	G45IP_HUMAN	T	198	.	ENSP00000323065:K198T	K	-	2	0	GADD45GIP1	12926098	1.000000	0.71417	0.992000	0.48379	0.382000	0.30200	3.520000	0.53465	0.755000	0.32990	0.456000	0.33151	AAG		0.602	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		G	13065098	T	G	13065098	3	3	34	1	0	0	0	0	1	0	0	0	6186	1609	56	5	79	5	GADD45GIP1	19	13065098	Missense_Mutation	SNP	T	TCGA-5P-A9K3-01A-11D-A42J-10	14181	13065098	46063885	57	2507											
PGLYRP2	114770	hgsc.bcm.edu	37	19	15586537	15586537	+	Missense_Mutation	SNP	C	C	A	rs145689498		TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr19:15586537C>A	ENST00000340880.4	-	2	1424	c.944G>T	c.(943-945)cGc>cTc	p.R315L	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.R315L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	315					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GAAGTTGCTGCGGAACCCTGG	0.632																																																0													41	41	41					19																	15586537		2203	4300	6503	SO:0001583	missense	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.944G>T	chr19.hg19:g.15586537C>A	ENSP00000345968:p.Arg315Leu		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	hg19	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696236	0.68386	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.05925	3.39;3.37	5.46	4.41	0.53225	.	0.273852	0.32106	N	0.006569	T	0.14270	0.0345	M	0.69248	2.105	0.25310	N	0.989205	P;P	0.51240	0.943;0.827	P;B	0.53722	0.733;0.391	T	0.05146	-1.0903	10	0.38643	T	0.18	-17.4685	9.327	0.37999	0.0:0.8965:0.0:0.1035	.	315;315	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	L	315	ENSP00000345968:R315L;ENSP00000292609:R315L	ENSP00000292609:R315L	R	-	2	0	PGLYRP2	15447537	0.419000	0.25449	0.850000	0.33497	0.691000	0.40173	1.661000	0.37408	1.259000	0.44117	0.561000	0.74099	CGC		0.632	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		A	15586537	C	A	15586537	3	1	34	1	0	0	0	0	1	0	0	0	11796	768	27	4	802	4	PGLYRP2	19	15586537	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	2521439	15586537	43542446	58	2508											
PRX	57716	hgsc.bcm.edu	37	19	40900916	40900916	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr19:40900916C>A	ENST00000324001.7	-	7	3613	c.3343G>T	c.(3343-3345)Gct>Tct	p.A1115S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1115	Glu-rich (acidic).				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)			ACGGCCACAGCCCCCTCTGCC	0.672																																																0													55	53	54					19																	40900916		2203	4300	6503	SO:0001583	missense	57716			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.3343G>T	chr19.hg19:g.40900916C>A	ENSP00000326018:p.Ala1115Ser		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	hg19	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	0.137	-1.106788	0.01813	.	.	ENSG00000105227	ENST00000324001	T	0.01059	5.39	3.82	2.77	0.32553	.	0.669254	0.13016	N	0.420476	T	0.01189	0.0039	L	0.40543	1.245	0.22017	N	0.999411	B	0.18166	0.026	B	0.11329	0.006	T	0.47560	-0.9108	10	0.21540	T	0.41	-0.4464	5.8736	0.18816	0.0:0.7574:0.0:0.2426	.	1115	Q9BXM0	PRAX_HUMAN	S	1115	ENSP00000326018:A1115S	ENSP00000326018:A1115S	A	-	1	0	PRX	45592756	0.000000	0.05858	0.021000	0.16686	0.018000	0.09664	-1.062000	0.03468	0.812000	0.34326	0.491000	0.48974	GCT		0.672	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		A	40900916	C	A	40900916	3	1	34	1	0	0	0	0	1	0	0	0	12647	739	26	4	1046	4	PRX	19	40900916	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	25314379	40900916	18228067	59	2509											
NLRP7	199713	hgsc.bcm.edu	37	19	55450484	55450484	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr19:55450484A>T	ENST00000590030.1	-	3	1743	c.1703T>A	c.(1702-1704)cTg>cAg	p.L568Q	NLRP7_ENST00000588756.1_Missense_Mutation_p.L568Q|NLRP7_ENST00000446217.1_Missense_Mutation_p.L596Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.L568Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.L568Q|NLRP7_ENST00000448121.2_Missense_Mutation_p.L568Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.L568Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	568							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GACCTCCTTCAGGTCGGTCAC	0.517																																																0													80	78	79					19																	55450484		2203	4300	6503	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1703T>A	chr19.hg19:g.55450484A>T	ENSP00000465520:p.Leu568Gln		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	hg19	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329178	0.24167	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.75589	-0.89;-0.89;-0.95;-0.93	2.24	-4.48	0.03515	.	1.148190	0.06821	N	0.792301	T	0.73745	0.3626	L	0.44542	1.39	0.09310	N	1	D;D;D;D	0.65815	0.995;0.985;0.995;0.995	D;P;P;D	0.67900	0.931;0.901;0.901;0.954	T	0.63120	-0.6708	10	0.37606	T	0.19	.	1.4421	0.02357	0.4838:0.15:0.2155:0.1506	.	596;568;568;568	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	Q	568;568;568;596;335	ENSP00000329568:L568Q;ENSP00000409137:L568Q;ENSP00000339491:L568Q;ENSP00000414273:L596Q	ENSP00000329568:L568Q	L	-	2	0	NLRP7	60142296	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.087000	0.14958	-2.141000	0.00805	-0.464000	0.05259	CTG		0.517	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		T	55450484	A	T	55450484	3	4	34	1	0	0	0	0	1	0	0	0	10484	188	7	5	1442	5	NLRP7	19	55450484	Missense_Mutation	SNP	A	TCGA-5P-A9K3-01A-11D-A42J-10	14549568	55450484	3678499	60	2510											
ZNF583	147949	hgsc.bcm.edu	37	19	56935542	56935542	+	Silent	SNP	A	A	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr19:56935542A>T	ENST00000333201.9	+	5	1725	c.1515A>T	c.(1513-1515)ggA>ggT	p.G505G	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Silent_p.G505G	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GCTATAGTGGATCTCTTACTC	0.403																																																0													112	117	115					19																	56935542		2203	4300	6503	SO:0001819	synonymous_variant	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1515A>T	chr19.hg19:g.56935542A>T			O14850|Q2NKK3	Silent	SNP	ENST00000333201.9	hg19	CCDS12943.1																																																																																				0.403	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		T	56935542	A	T	56935542	2	4	34	1	0	0	0	0	0	0	0	1	18020	320	12	5		5	ZNF583	19	56935542	Silent	SNP	A	TCGA-5P-A9K3-01A-11D-A42J-10	1485058	56935542	2193441	61	2511											
ADAM33	80332	hgsc.bcm.edu	37	20	3652297	3652297	+	Silent	SNP	G	G	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr20:3652297G>C	ENST00000356518.2	-	16	2077	c.1836C>G	c.(1834-1836)ctC>ctG	p.L612L	ADAM33_ENST00000379861.4_Silent_p.L612L|ADAM33_ENST00000350009.2_Silent_p.L612L|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	612	Cys-rich.		L -> H (in dbSNP:rs41453444). {ECO:0000269|Ref.4}.		proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGGCACTGGGGAGTGCCAAGG	0.642																																																0													29	23	25					20																	3652297		2197	4293	6490	SO:0001819	synonymous_variant	80332			AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1836C>G	chr20.hg19:g.3652297G>C			A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	hg19	CCDS13058.1																																																																																				0.642	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		C	3652297	G	C	3652297	2	2	34	1	0	0	0	0	0	0	0	1	250	1161	41	4		4	ADAM33	20	3652297	Silent	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10		3652297	59373223	62	2512											
ESF1	51575	hgsc.bcm.edu	37	20	13763687	13763687	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr20:13763687T>A	ENST00000202816.1	-	2	207	c.100A>T	c.(100-102)Att>Ttt	p.I34F	NDUFAF5_ENST00000463598.1_5'Flank|NDUFAF5_ENST00000378106.5_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	34					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTCTTGTCAATTTTGACTTTT	0.433																																																0													66	64	65					20																	13763687		2203	4300	6503	SO:0001583	missense	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.100A>T	chr20.hg19:g.13763687T>A	ENSP00000202816:p.Ile34Phe		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	hg19	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.764628	0.89932	.	.	ENSG00000089048	ENST00000202816;ENST00000541185	T	0.36157	1.27	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73569	-0.3941	10	0.87932	D	0	.	13.9559	0.64147	0.0:0.0:0.0:1.0	.	34	Q9H501	ESF1_HUMAN	F	34	ENSP00000202816:I34F	ENSP00000202816:I34F	I	-	1	0	ESF1	13711687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	1.765000	0.52091	0.383000	0.25322	ATT		0.433	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		A	13763687	T	A	13763687	3	1	34	1	0	0	0	0	1	0	0	0	5253	1493	52	5	2507	5	ESF1	20	13763687	Missense_Mutation	SNP	T	TCGA-5P-A9K3-01A-11D-A42J-10	10111390	13763687	49261833	63	2513											
TUBB1	81027	hgsc.bcm.edu	37	20	57599619	57599619	+	Silent	SNP	T	T	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr20:57599619T>C	ENST00000217133.1	+	4	1406	c.1137T>C	c.(1135-1137)aaT>aaC	p.N379N		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	379					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AGATCTTTAATAGGGTCTCTG	0.522																																																0													46	43	44					20																	57599619		2203	4300	6503	SO:0001819	synonymous_variant	81027			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.1137T>C	chr20.hg19:g.57599619T>C				Silent	SNP	ENST00000217133.1	hg19	CCDS13475.1																																																																																				0.522	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		C	57599619	T	C	57599619	2	2	34	1	0	0	0	0	0	0	0	1	16758	1403	49	3		3	TUBB1	20	57599619	Silent	SNP	T	TCGA-5P-A9K3-01A-11D-A42J-10	43835932	57599619	5425901	64	2514											
TCP10L	140290	hgsc.bcm.edu	37	21	33956569	33956569	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr21:33956569G>A	ENST00000300258.3	-	2	159	c.46C>T	c.(46-48)Cac>Tac	p.H16Y	TCP10L_ENST00000472557.1_Intron|AP000275.65_ENST00000553001.1_Intron	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	16					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCCTCTGGGTGGGTGCCCTCT	0.632																																																0													52	49	50					21																	33956569		2203	4300	6503	SO:0001583	missense	140290			AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"t-complex 10 (a murine tcp homolog)-like", "t-complex 10 (mouse)-like"			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.46C>T	chr21.hg19:g.33956569G>A	ENSP00000300258:p.His16Tyr		Q53EW0|Q96LN5	Missense_Mutation	SNP	ENST00000300258.3	hg19	CCDS13616.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495034	0.26774	.	.	ENSG00000242220	ENST00000300258	T	0.19669	2.13	0.468	0.468	0.16732	.	.	.	.	.	T	0.36771	0.0979	L	0.57536	1.79	0.09310	N	1	D	0.61080	0.989	D	0.70487	0.969	T	0.10800	-1.0614	8	0.87932	D	0	.	.	.	.	.	16	Q8TDR4	TCP1L_HUMAN	Y	16	ENSP00000300258:H16Y	ENSP00000300258:H16Y	H	-	1	0	TCP10L	32878440	0.003000	0.15002	0.033000	0.17914	0.051000	0.14879	-0.046000	0.11983	0.485000	0.27652	0.205000	0.17691	CAC		0.632	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		A	33956569	G	A	33956569	3	1	34	1	0	0	0	0	1	0	0	0	15716	1348	47	2	617	2	TCP10L	21	33956569	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10		33956569	14173326	65	2515											
COL6A2	1292	hgsc.bcm.edu	37	21	47546102	47546102	+	Silent	SNP	C	C	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr21:47546102C>T	ENST00000300527.4	+	26	2477	c.2373C>T	c.(2371-2373)gaC>gaT	p.D791D	COL6A2_ENST00000357838.4_Silent_p.D791D|COL6A2_ENST00000310645.5_Silent_p.D791D|COL6A2_ENST00000397763.1_Silent_p.D791D|COL6A2_ENST00000409416.1_Silent_p.D791D	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	791	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGTTCTCCGACCTGGTCGCTG	0.632																																																0													212	210	211					21																	47546102		2203	4300	6503	SO:0001819	synonymous_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2373C>T	chr21.hg19:g.47546102C>T			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	hg19	CCDS13728.1																																																																																				0.632	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47546102	C	T	47546102	2	4	34	1	0	0	0	0	0	0	0	1	3702	506	18	2		2	COL6A2	21	47546102	Silent	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	13589533	47546102	583793	66	2516											
EP300	2033	hgsc.bcm.edu	37	22	41527606	41527606	+	Silent	SNP	T	T	C			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr22:41527606T>C	ENST00000263253.7	+	6	2716	c.1497T>C	c.(1495-1497)tcT>tcC	p.S499S		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	499					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTGGGCAGTCTCCCCAAGGCA	0.473			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													84	82	83					22																	41527606		2203	4300	6503	SO:0001819	synonymous_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1497T>C	chr22.hg19:g.41527606T>C			B1AKC2	Silent	SNP	ENST00000263253.7	hg19	CCDS14010.1																																																																																				0.473	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		C	41527606	T	C	41527606	2	2	34	1	0	0	0	0	0	0	0	1	5150	1538	54	3		3	EP300	22	41527606	Silent	SNP	T	TCGA-5P-A9K3-01A-11D-A42J-10		41527606	9776960	67	2517											
MOV10L1	54456	hgsc.bcm.edu	37	22	50555698	50555698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chr22:50555698G>T	ENST00000262794.5	+	9	1455	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	MOV10L1_ENST00000395858.3_Nonsense_Mutation_p.E458*|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.E438*|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.E458*	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	458					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.E458K(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGCTGCGCGCGAACCATTTTC	0.423																																																1	Substitution - Missense(1)	large_intestine(1)											80	76	77					22																	50555698		2203	4300	6503	SO:0001587	stop_gained	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1372G>T	chr22.hg19:g.50555698G>T	ENSP00000262794:p.Glu458*		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Nonsense_Mutation	SNP	ENST00000262794.5	hg19	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	37	6.499084	0.97616	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	.	.	.	5.76	5.76	0.90799	.	0.237801	0.43260	D	0.000585	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-29.9369	18.7444	0.91787	0.0:0.0:1.0:0.0	.	.	.	.	X	458;458;458;438	.	ENSP00000262794:E458X	E	+	1	0	MOV10L1	48897825	0.426000	0.25506	0.468000	0.27192	0.010000	0.07245	2.329000	0.43876	2.716000	0.92895	0.650000	0.86243	GAA		0.423	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		T	50555698	G	T	50555698	4	4	34	1	0	0	0	0	0	1	0	0	9721	1059	37	4	1447	4	MOV10L1	22	50555698	Nonsense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10	9028092	50555698	748868	68	2518											
FANCB	2187	hgsc.bcm.edu	37	X	14862799	14862799	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chrX:14862799G>A	ENST00000324138.3	-	8	2144	c.1991C>T	c.(1990-1992)tCa>tTa	p.S664L	FANCB_ENST00000398334.1_Missense_Mutation_p.S664L	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	664					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ATAGCCGGGTGATGTGATTTG	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													77	77	77					X																	14862799		2203	4299	6502	SO:0001583	missense	2187	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1991C>T	chrX.hg19:g.14862799G>A	ENSP00000326819:p.Ser664Leu		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	hg19	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780725	0.49891	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.5	5.5	0.81552	.	0.068421	0.64402	D	0.000011	T	0.73393	0.3581	L	0.59436	1.845	0.42896	D	0.994218	D	0.63046	0.992	P	0.56865	0.808	T	0.76974	-0.2760	9	0.87932	D	0	-6.2689	18.4174	0.90575	0.0:0.0:1.0:0.0	.	664	Q8NB91	FANCB_HUMAN	L	664	.	ENSP00000326819:S664L	S	-	2	0	FANCB	14772720	1.000000	0.71417	0.040000	0.18447	0.006000	0.05464	6.647000	0.74354	2.289000	0.77006	0.594000	0.82650	TCA		0.368	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		A	14862799	G	A	14862799	3	1	34	1	0	0	0	0	1	0	0	0	5665	1294	45	2	596	2	FANCB	23	14862799	Missense_Mutation	SNP	G	TCGA-5P-A9K3-01A-11D-A42J-10		14862799	140407761	69	2519											
GPKOW	27238	hgsc.bcm.edu	37	X	48979991	48979991	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chrX:48979991C>A	ENST00000156109.5	-	1	160	c.82G>T	c.(82-84)Gca>Tca	p.A28S		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	28						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CGCCTCCGTGCGGACGTGCGA	0.617																																																0													26	23	24					X																	48979991		2202	4299	6501	SO:0001583	missense	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.82G>T	chrX.hg19:g.48979991C>A	ENSP00000156109:p.Ala28Ser		Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	hg19	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	7.394	0.631345	0.14322	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.39	-2.38	0.06622	.	0.722949	0.14213	N	0.333912	T	0.21962	0.0529	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.31052	-0.9957	9	0.07990	T	0.79	.	5.6619	0.17674	0.4884:0.3358:0.0:0.1758	.	28	Q92917	GPKOW_HUMAN	S	28	.	ENSP00000156109:A28S	A	-	1	0	GPKOW	48866935	0.000000	0.05858	0.003000	0.11579	0.742000	0.42306	-0.802000	0.04545	-0.289000	0.09038	0.504000	0.49776	GCA		0.617	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		A	48979991	C	A	48979991	3	1	34	1	0	0	0	0	1	0	0	0	6615	768	27	4	1392	4	GPKOW	23	48979991	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	34117192	48979991	106290569	70	2520											
SMARCA1	6594	hgsc.bcm.edu	37	X	128582334	128582334	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K3-01A-11D-A42J-10	TCGA-5P-A9K3-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	84a1aab7-7e50-4015-accb-e32579b2fc62	fe756f10-d087-48bf-984d-e9ba64bab839	g.chrX:128582334C>G	ENST00000371122.4	-	24	3246	c.3117G>C	c.(3115-3117)aaG>aaC	p.K1039N	SMARCA1_ENST00000371121.3_Missense_Mutation_p.K1027N|SMARCA1_ENST00000371123.1_Missense_Mutation_p.K1027N	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1039					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTGCCCGTTTCTTCTTTTCTG	0.313																																																0													148	136	140					X																	128582334		2203	4297	6500	SO:0001583	missense	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.3117G>C	chrX.hg19:g.128582334C>G	ENSP00000360163:p.Lys1039Asn		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	hg19	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663123	0.47572	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122	D;D;D	0.92299	-3.01;-3.01;-2.99	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000005	D	0.96667	0.8912	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.69078	0.981;0.997;0.989;0.981	D;D;D;D	0.77004	0.966;0.989;0.985;0.966	D	0.96323	0.9238	10	0.51188	T	0.08	-18.2877	19.3889	0.94570	0.0:1.0:0.0:0.0	.	1018;1039;1027;1039	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	N	1027;1027;1039	ENSP00000360162:K1027N;ENSP00000360164:K1027N;ENSP00000360163:K1039N	ENSP00000360162:K1027N	K	-	3	2	SMARCA1	128410015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.498000	0.53302	2.618000	0.88619	0.600000	0.82982	AAG		0.313	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		G	128582334	C	G	128582334	3	3	34	1	0	0	0	0	1	0	0	0	14774	912	32	4	51	4	SMARCA1	23	128582334	Missense_Mutation	SNP	C	TCGA-5P-A9K3-01A-11D-A42J-10	79602343	128582334	26688226	71	2521											
HMGCS2	3158	hgsc.bcm.edu	37	1	120301769	120301769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr1:120301769delA	ENST00000369406.3	-	4	871	c.822delT	c.(820-822)cgtfs	p.R274fs	HMGCS2_ENST00000544913.2_Frame_Shift_Del_p.R232fs|HMGCS2_ENST00000476640.1_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	274					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGATTTTTTTACGGTATGATG	0.468																																																0													130	130	130					1																	120301769		2203	4300	6503	SO:0001589	frameshift_variant	3158			BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.822delT	chr1.hg19:g.120301769delA	ENSP00000358414:p.Arg274fs		B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Frame_Shift_Del	DEL	ENST00000369406.3	hg19	CCDS905.1																																																																																				0.468	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		-	120301769	A	-	120301769	7	5	35	1	0	1	0	1	0	0	0	0	7235	378	14	0	728	0	HMGCS2	1	120301769	Frame_Shift_Del	DEL	A	TCGA-5P-A9K6-01A-11D-A42J-10		120301769	128948852	1	2522											
RALGPS2	55103	hgsc.bcm.edu	37	1	178863074	178863074	+	Nonsense_Mutation	SNP	T	T	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr1:178863074T>A	ENST00000367635.3	+	16	1684	c.1346T>A	c.(1345-1347)tTg>tAg	p.L449*	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Nonsense_Mutation_p.L423*	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	449					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCAGAAGATTTGGCAGTACAT	0.318																																																0													61	61	61					1																	178863074		2203	4293	6496	SO:0001587	stop_gained	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1346T>A	chr1.hg19:g.178863074T>A	ENSP00000356607:p.Leu449*		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Nonsense_Mutation	SNP	ENST00000367635.3	hg19	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	39|39	7.409622|7.409622	0.98265|0.98265	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251|ENST00000367632	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.248036|.	0.33875|.	N|.	0.004461|.	.|T	.|0.67655	.|0.2916	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70974	.|-0.4726	.|3	0.02654|.	T|.	1|.	.|.	15.3383|15.3383	0.74277|0.74277	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|R	449;423;414;98|40	.|.	ENSP00000313613:L414X|.	L|W	+|+	2|1	0|0	RALGPS2|RALGPS2	177129697|177129697	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.143000|7.143000	0.77348|0.77348	2.102000|2.102000	0.63906|0.63906	0.454000|0.454000	0.30748|0.30748	TTG|TGG		0.318	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		A	178863074	T	A	178863074	4	1	35	1	0	0	0	0	0	1	0	0	13024	1821	63	5	1404	5	RALGPS2	1	178863074	Nonsense_Mutation	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10	58561305	178863074	70387547	2	2523											
C2orf53	339779	hgsc.bcm.edu	37	2	27360426	27360426	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr2:27360426G>A	ENST00000335524.3	-	3	1297	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000260643.2_5'Flank|PREB_ENST00000406567.3_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		258										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCTGCGGGGCCGGAGGCAC	0.657																																																0													20	22	21					2																	27360426		2081	4142	6223	SO:0001583	missense	339779																														ENST00000335524.3:c.772C>T	chr2.hg19:g.27360426G>A	ENSP00000335017:p.Pro258Ser		Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	hg19	CCDS1739.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.302|9.302	1.053391|1.053391	0.19907|0.19907	.|.	.|.	ENSG00000186143|ENSG00000186143	ENST00000432962|ENST00000335524	.|T	.|0.32753	.|1.44	4.67|4.67	3.78|3.78	0.43462|0.43462	.|.	.|0.958574	.|0.08507	.|N	.|0.935541	T|T	0.34774|0.34774	0.0909|0.0909	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|D	.|0.53312	.|0.959	.|P	.|0.51615	.|0.675	T|T	0.21381|0.21381	-1.0247|-1.0247	6|10	0.87932|0.59425	D|D	0|0.04	-2.4184|-2.4184	10.6794|10.6794	0.45804|0.45804	0.0:0.1934:0.8066:0.0|0.0:0.1934:0.8066:0.0	.|.	.|258	.|Q53SZ7	.|CB053_HUMAN	V|S	93|258	.|ENSP00000335017:P258S	ENSP00000393468:A93V|ENSP00000335017:P258S	A|P	-|-	2|1	0|0	C2orf53|C2orf53	27213930|27213930	0.971000|0.971000	0.33674|0.33674	0.163000|0.163000	0.22734|0.22734	0.184000|0.184000	0.23303|0.23303	2.911000|2.911000	0.48774|0.48774	1.153000|1.153000	0.42468|0.42468	0.561000|0.561000	0.74099|0.74099	GCC|CCC		0.657	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			A	27360426	G	A	27360426	3	1	35	1	0	0	0	0	1	0	0	0	2176	1203	42	2	470	2	C2orf53	2	27360426	Missense_Mutation	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10		27360426	215838947	3	2524											
DPP10	57628	hgsc.bcm.edu	37	2	116593770	116593770	+	Nonsense_Mutation	SNP	C	C	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr2:116593770C>A	ENST00000410059.1	+	22	2468	c.1988C>A	c.(1987-1989)tCa>tAa	p.S663*	DPP10_ENST00000393147.2_Nonsense_Mutation_p.S667*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.S613*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.S656*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	663						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATCTTAAAATCAGATGAAAAG	0.343																																																0													84	82	83					2																	116593770		2203	4300	6503	SO:0001587	stop_gained	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1988C>A	chr2.hg19:g.116593770C>A	ENSP00000386565:p.Ser663*		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	ENST00000410059.1	hg19	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	41	8.960916	0.99018	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	.	.	.	5.67	5.67	0.87782	.	0.066573	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2616	18.7538	0.91825	0.0:1.0:0.0:0.0	.	.	.	.	X	663;613;667;656	.	ENSP00000309066:S656X	S	+	2	0	DPP10	116310240	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.472000	0.60189	2.649000	0.89929	0.655000	0.94253	TCA		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116593770	C	A	116593770	4	1	35	1	0	0	0	0	0	1	0	0	4729	838	29	4	2245	4	DPP10	2	116593770	Nonsense_Mutation	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	89233344	116593770	126605603	4	2525											
LRP2	4036	hgsc.bcm.edu	37	2	169999196	169999197	+	Frame_Shift_Ins	INS	-	-	A	rs367958079		TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr2:169999196_169999197insA	ENST00000263816.3	-	71	13380_13381	c.13095_13096insT	c.(13093-13098)actgagfs	p.E4366fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4366	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GCATCACACTCAGTGGTGCTCC	0.574																																																0																																										SO:0001589	frameshift_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13096dupT	chr2.hg19:g.169999197_169999197dupA	ENSP00000263816:p.Glu4366fs		O00711|Q16215	Frame_Shift_Ins	INS	ENST00000263816.3	hg19	CCDS2232.1																																																																																				0.574	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	169999197	-	A	169999196	7	5	35	1	0	1	1	0	0	0	0	0	8958	835	29	0	907	0	LRP2	2	169999196	Frame_Shift_Ins	INS	-	TCGA-5P-A9K6-01A-11D-A42J-10	53405426	169999196	73200177	5	2526											
NOP58	51602	hgsc.bcm.edu	37	2	203165004	203165004	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr2:203165004G>C	ENST00000264279.5	+	13	1542	c.1316G>C	c.(1315-1317)tGt>tCt	p.C439S		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	439					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						CTTCCAACCTGTTCTAAAAAA	0.333																																																0													85	89	87					2																	203165004		2203	4299	6502	SO:0001583	missense	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.1316G>C	chr2.hg19:g.203165004G>C	ENSP00000264279:p.Cys439Ser		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	hg19	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	G	4.364	0.067124	0.08388	.	.	ENSG00000055044	ENST00000264279	T	0.58210	0.35	6.04	3.99	0.46301	.	0.334108	0.36815	N	0.002398	T	0.23410	0.0566	N	0.03608	-0.345	0.31765	N	0.6328	B	0.10296	0.003	B	0.01281	0.0	T	0.22521	-1.0214	10	0.07813	T	0.8	-8.107	8.6349	0.33941	0.0899:0.0:0.7125:0.1977	.	439	Q9Y2X3	NOP58_HUMAN	S	439	ENSP00000264279:C439S	ENSP00000264279:C439S	C	+	2	0	NOP58	202873249	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.010000	0.40913	1.457000	0.47850	0.563000	0.77884	TGT		0.333	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		C	203165004	G	C	203165004	3	2	35	1	0	0	0	0	1	0	0	0	10542	1377	48	4	1366	4	NOP58	2	203165004	Missense_Mutation	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10	33165808	203165004	40034369	6	2527											
TRIM42	287015	hgsc.bcm.edu	37	3	140409996	140409996	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr3:140409996A>C	ENST00000286349.3	+	4	2238	c.2047A>C	c.(2047-2049)Aat>Cat	p.N683H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	683	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TAGAGCCATCAATGATAATGG	0.438																																																0													152	148	149					3																	140409996		2203	4300	6503	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.2047A>C	chr3.hg19:g.140409996A>C	ENSP00000286349:p.Asn683His		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	hg19	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699132	0.68501	.	.	ENSG00000155890	ENST00000286349	T	0.62232	0.04	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.084638	0.49916	D	0.000130	T	0.66703	0.2816	N	0.24115	0.695	0.36090	D	0.843388	D	0.89917	1.0	D	0.91635	0.999	T	0.75739	-0.3212	10	0.87932	D	0	-29.3416	11.9122	0.52745	1.0:0.0:0.0:0.0	.	683	Q8IWZ5	TRI42_HUMAN	H	683	ENSP00000286349:N683H	ENSP00000286349:N683H	N	+	1	0	TRIM42	141892686	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.754000	0.68743	2.074000	0.62210	0.528000	0.53228	AAT		0.438	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		C	140409996	A	C	140409996	3	2	35	1	0	0	0	0	1	0	0	0	16522	130	5	5	2061	5	TRIM42	3	140409996	Missense_Mutation	SNP	A	TCGA-5P-A9K6-01A-11D-A42J-10		140409996	57612434	7	2528											
EIF4G1	1981	hgsc.bcm.edu	37	3	184042785	184042785	+	Silent	SNP	G	G	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr3:184042785G>A	ENST00000346169.2	+	18	3010	c.2739G>A	c.(2737-2739)gaG>gaA	p.E913E	EIF4G1_ENST00000350481.5_Silent_p.E749E|EIF4G1_ENST00000342981.4_Silent_p.E914E|EIF4G1_ENST00000352767.3_Silent_p.E920E|EIF4G1_ENST00000382330.3_Silent_p.E920E|EIF4G1_ENST00000435046.2_Silent_p.E717E|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Silent_p.E920E|EIF4G1_ENST00000414031.1_Silent_p.E873E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Silent_p.E750E|EIF4G1_ENST00000427845.1_Silent_p.E827E|EIF4G1_ENST00000392537.2_Silent_p.E826E|EIF4G1_ENST00000434061.2_Silent_p.E718E|EIF4G1_ENST00000411531.1_Silent_p.E874E|EIF4G1_ENST00000319274.6_Silent_p.E913E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	913	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTTAACAGAGGCAATAATGC	0.478																																																0													111	114	113					3																	184042785		2203	4300	6503	SO:0001819	synonymous_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2739G>A	chr3.hg19:g.184042785G>A			D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	hg19	CCDS3259.1																																																																																				0.478	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		A	184042785	G	A	184042785	2	1	35	1	0	0	0	0	0	0	0	1	5038	991	35	2		2	EIF4G1	3	184042785	Silent	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10	43632789	184042785	13979645	8	2529											
NKX3-2	579	hgsc.bcm.edu	37	4	13543692	13543692	+	Silent	SNP	G	G	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr4:13543692G>A	ENST00000382438.5	-	2	1562	c.927C>T	c.(925-927)ccC>ccT	p.P309P		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	309					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AATAGTAGGAGGGCTGCAGTG	0.657																																																0													41	36	38					4																	13543692		2200	4299	6499	SO:0001819	synonymous_variant	579			AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"Homeoboxes / ANTP class : NKL subclass"	951	protein-coding gene	gene with protein product		602183	"bagpipe homeobox homolog 1 (Drosophila)"	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.927C>T	chr4.hg19:g.13543692G>A			Q2M2I7	Silent	SNP	ENST00000382438.5	hg19	CCDS3410.1																																																																																				0.657	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			A	13543692	G	A	13543692	2	1	35	1	0	0	0	0	0	0	0	1	10458	987	35	2		2	NKX3-2	4	13543692	Silent	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10		13543692	177610584	9	2530											
RUFY3	22902	hgsc.bcm.edu	37	4	71660584	71660584	+	IGR	SNP	G	G	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr4:71660584G>A	ENST00000226328.4	+	0	4233				RUFY3_ENST00000381006.3_Silent_p.R510R|RUFY3_ENST00000502653.1_Silent_p.R457R	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TCCCAGGAAGGGGTTCCCAGA	0.388																																																0													132	137	135					4																	71660584		2203	4300	6503	SO:0001628	intergenic_variant	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910		chr4.hg19:g.71660584G>A			B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Silent	SNP	ENST00000226328.4	hg19	CCDS3547.1																																																																																				0.388	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		A	71660584	G	A	71660584	1	1	35	0	1	0	0	0	0	0	0	0	13746	1223	43	2		2	RUFY3	4	71660584	IGR	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10	58116892	71660584	119493692	10	2531											
HNRPDL	9987	hgsc.bcm.edu	37	4	83350614	83350614	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr4:83350614C>G	ENST00000295470.5	-	1	405	c.230G>C	c.(229-231)gGa>gCa	p.G77A	HNRNPDL_ENST00000602300.1_5'Flank|HNRNPDL_ENST00000514511.1_5'Flank|HNRNPDL_ENST00000349655.4_5'Flank|ENOPH1_ENST00000509635.1_5'Flank|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.G77A	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	77					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CCTGCGCCCTCCCTTTATAGC	0.741																																																0													7	10	9					4																	83350614		2072	4194	6266	SO:0001583	missense	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.230G>C	chr4.hg19:g.83350614C>G	ENSP00000295470:p.Gly77Ala		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	hg19	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	c	19.68	3.873638	0.72180	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	T;T	0.66460	-0.21;-0.21	4.37	3.5	0.40072	.	0.357050	0.20341	N	0.094229	T	0.42877	0.1222	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44877	-0.9299	10	0.87932	D	0	.	6.9493	0.24536	0.0:0.7224:0.1789:0.0988	.	77	O14979	HNRDL_HUMAN	A	77	ENSP00000295470:G77A;ENSP00000422040:G77A	ENSP00000295470:G77A	G	-	2	0	HNRPDL	83569638	0.998000	0.40836	1.000000	0.80357	0.803000	0.45373	0.789000	0.26886	2.132000	0.65825	0.305000	0.20034	GGA		0.741	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		G	83350614	C	G	83350614	3	3	35	1	0	0	0	0	1	0	0	0	7278	855	30	4	1060	4	HNRPDL	4	83350614	Missense_Mutation	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	11690030	83350614	107803662	11	2532											
NNT	23530	hgsc.bcm.edu	37	5	43613093	43613093	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr5:43613093G>A	ENST00000264663.5	+	3	456	c.235G>A	c.(235-237)Gtt>Att	p.V79I	NNT_ENST00000512996.2_5'UTR|NNT_ENST00000344920.4_Missense_Mutation_p.V79I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	79					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TCCTGCTGGTGTTCAGAACTT	0.473																																																0													168	169	169					5																	43613093		2203	4300	6503	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.235G>A	chr5.hg19:g.43613093G>A	ENSP00000264663:p.Val79Ile		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	hg19	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598252	0.87055	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.7	5.7	0.88788	Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-1 (1);Alanine dehydrogenase/PNT, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88451	0.6440	M	0.81179	2.53	0.80722	D	1	P	0.46859	0.885	P	0.48901	0.594	D	0.89154	0.3525	10	0.59425	D	0.04	-29.0904	19.8481	0.96728	0.0:0.0:1.0:0.0	.	79	Q13423	NNTM_HUMAN	I	79	ENSP00000427670:V79I;ENSP00000421886:V79I;ENSP00000264663:V79I;ENSP00000343873:V79I	ENSP00000264663:V79I	V	+	1	0	NNT	43648850	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	9.584000	0.98220	2.705000	0.92388	0.650000	0.86243	GTT		0.473	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		A	43613093	G	A	43613093	3	1	35	1	0	0	0	0	1	0	0	0	10512	1377	48	2	241	2	NNT	5	43613093	Missense_Mutation	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10		43613093	137302167	12	2533											
CSF1R	1436	hgsc.bcm.edu	37	5	149459890	149459890	+	Missense_Mutation	SNP	C	C	T	rs535129002		TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr5:149459890C>T	ENST00000286301.3	-	4	608	c.317G>A	c.(316-318)cGg>cAg	p.R106Q	CSF1R_ENST00000543093.1_Missense_Mutation_p.R106Q	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	106					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTTCCAGGGCCGGGCAGGGTC	0.617																																																0													36	35	35					5																	149459890		2203	4299	6502	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.317G>A	chr5.hg19:g.149459890C>T	ENSP00000286301:p.Arg106Gln		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	hg19	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892951	0.33442	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.04758	3.56;3.56	4.92	1.53	0.23141	.	0.583037	0.14309	N	0.327833	T	0.07863	0.0197	L	0.56769	1.78	0.09310	N	1	D;D;P	0.63880	0.993;0.987;0.929	P;B;B	0.50049	0.629;0.396;0.211	T	0.28996	-1.0026	10	0.29301	T	0.29	.	5.7207	0.17985	0.0:0.5844:0.0:0.4156	.	106;106;106	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	Q	106	ENSP00000286301:R106Q;ENSP00000445282:R106Q	ENSP00000286301:R106Q	R	-	2	0	CSF1R	149440083	0.000000	0.05858	0.015000	0.15790	0.087000	0.18053	-0.169000	0.09911	0.445000	0.26639	0.561000	0.74099	CGG		0.617	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		T	149459890	C	T	149459890	3	4	35	1	0	0	0	0	1	0	0	0	3934	652	23	1	2677	1	CSF1R	5	149459890	Missense_Mutation	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	105846797	149459890	31455370	13	2534											
C6orf126	389383	hgsc.bcm.edu	37	6	35745347	35745347	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr6:35745347T>C	ENST00000403376.3	+	2	196	c.196T>C	c.(196-198)Tgc>Cgc	p.C66R	CLPSL2_ENST00000360454.2_Missense_Mutation_p.C66R|CLPSL2_ENST00000481904.1_3'UTR	NM_207409.2	NP_997292.2	Q6UWE3	COLL2_HUMAN	colipase-like 2	66					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										AACCATGATCTGCTTGCCCCA	0.557																																																0													42	41	41					6																	35745347		2203	4300	6503	SO:0001583	missense	389383				CCDS4810.2, CCDS69095.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000196748	ENSG00000196748			21250	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 126"	C6orf126			Standard	NM_001286550		Approved	dJ510O8.5, UNQ3045	uc010jvz.1	Q6UWE3	OTTHUMG00000014581	ENST00000403376.3:c.196T>C	chr6.hg19:g.35745347T>C	ENSP00000385898:p.Cys66Arg		B0QZ45|Q5T9G3	Missense_Mutation	SNP	ENST00000403376.3	hg19	CCDS4810.2	.	.	.	.	.	.	.	.	.	.	T	14.54	2.565760	0.45694	.	.	ENSG00000196748	ENST00000360454;ENST00000403376	.	.	.	3.41	2.2	0.27929	.	0.000000	0.39759	N	0.001275	T	0.61502	0.2352	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.982;0.987	T	0.64428	-0.6410	9	0.87932	D	0	-20.7405	6.6191	0.22792	0.0:0.0:0.2463:0.7537	.	66;66	Q6UWE3;Q6UWE3-2	CF126_HUMAN;.	R	66	.	ENSP00000353639:C66R	C	+	1	0	C6orf126	35853325	0.936000	0.31750	0.532000	0.27989	0.271000	0.26615	1.611000	0.36879	0.645000	0.30675	0.459000	0.35465	TGC		0.557	CLPSL2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280618.2	NM_207409		C	35745347	T	C	35745347	3	2	35	1	0	0	0	0	1	0	0	0	2328	1580	55	3	202	3	C6orf126	6	35745347	Missense_Mutation	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10		35745347	135369720	14	2535											
SLC22A7	10864	hgsc.bcm.edu	37	6	43268946	43268946	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr6:43268946T>C	ENST00000372585.5	+	6	996	c.901T>C	c.(901-903)Tgt>Cgt	p.C301R	SLC22A7_ENST00000372574.3_Missense_Mutation_p.C299R|SLC22A7_ENST00000372589.3_Missense_Mutation_p.C299R|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	301					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTTGCTCCACTGTGCCAGGCT	0.577																																																0													174	158	163					6																	43268946		2203	4300	6503	SO:0001583	missense	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.901T>C	chr6.hg19:g.43268946T>C	ENSP00000361666:p.Cys301Arg		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	hg19	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373115	0.61624	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574	T;T;T	0.55413	0.52;0.52;0.52	4.95	4.95	0.65309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100743	0.64402	D	0.000001	T	0.66848	0.2831	M	0.86028	2.79	0.80722	D	1	D;D;D	0.67145	0.987;0.984;0.996	D;D;D	0.68943	0.961;0.935;0.96	T	0.74222	-0.3735	10	0.87932	D	0	.	12.1803	0.54208	0.0:0.0:0.0:1.0	.	301;299;299	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	R	299;301;299	ENSP00000361670:C299R;ENSP00000361666:C301R;ENSP00000361655:C299R	ENSP00000361655:C299R	C	+	1	0	SLC22A7	43376924	1.000000	0.71417	0.980000	0.43619	0.525000	0.34531	5.033000	0.64146	1.871000	0.54225	0.374000	0.22700	TGT		0.577	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			C	43268946	T	C	43268946	3	2	35	1	0	0	0	0	1	0	0	0	14465	1580	55	3	919	3	SLC22A7	6	43268946	Missense_Mutation	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10	7523599	43268946	127846121	15	2536											
SYNE1	23345	hgsc.bcm.edu	37	6	152589267	152589267	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr6:152589267G>T	ENST00000367255.5	-	100	19340	c.18739C>A	c.(18739-18741)Ctc>Atc	p.L6247I	SYNE1_ENST00000356820.4_Missense_Mutation_p.L771I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L6247I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L6176I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L6176I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5859I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6247					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGCGAAGGAGACTCTTCTGC	0.443										HNSCC(10;0.0054)																																						0													100	100	100					6																	152589267		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18739C>A	chr6.hg19:g.152589267G>T	ENSP00000356224:p.Leu6247Ile		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534749	0.64972	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.73681	-0.68;-0.7;-0.77;-0.69;-0.4;0.88	5.74	5.74	0.90152	.	0.000000	0.50627	D	0.000101	T	0.70298	0.3208	M	0.72894	2.215	0.49687	D	0.999816	P;P;P	0.46912	0.818;0.818;0.886	B;B;P	0.48677	0.382;0.382;0.586	T	0.70306	-0.4908	10	0.34782	T	0.22	.	11.0403	0.47827	0.0687:0.0:0.8012:0.1301	.	6247;6247;6176	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	6247;6176;6247;6176;5859;771	ENSP00000356224:L6247I;ENSP00000396024:L6176I;ENSP00000265368:L6247I;ENSP00000390975:L6176I;ENSP00000341887:L5859I;ENSP00000349276:L771I	ENSP00000265368:L6247I	L	-	1	0	SYNE1	152630960	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.624000	0.61254	2.873000	0.98535	0.563000	0.77884	CTC		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152589267	G	T	152589267	3	4	35	1	0	0	0	0	1	0	0	0	15450	942	33	4	7915	4	SYNE1	6	152589267	Missense_Mutation	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10	109320321	152589267	18525800	16	2537											
SP8	221833	hgsc.bcm.edu	37	7	20824939	20825106	+	In_Frame_Del	DEL	GAGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCTGCCCCCGGAAACTCCGGGGGCCTGGAAAACAGAGTAGTCGTTGGCGAAGGGCGAGCTGGAGGCGGCGGCTGCGGCGGCGGCGGCGGCGGCTGCGGCGCTGCTGGAGGTGAGGGAGAAGGCGCTGGAGCCAGGC	GAGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCTGCCCCCGGAAACTCCGGGGGCCTGGAAAACAGAGTAGTCGTTGGCGAAGGGCGAGCTGGAGGCGGCGGCTGCGGCGGCGGCGGCGGCGGCTGCGGCGCTGCTGGAGGTGAGGGAGAAGGCGCTGGAGCCAGGC	-	rs185796187|rs550042701|rs372591893|rs201180283	byFrequency	TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	GAGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCTGCCCCCGGAAACTCCGGGGGCCTGGAAAACAGAGTAGTCGTTGGCGAAGGGCGAGCTGGAGGCGGCGGCTGCGGCGGCGGCGGCGGCGGCTGCGGCGCTGCTGGAGGTGAGGGAGAAGGCGCTGGAGCCAGGC	GAGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCTGCCCCCGGAAACTCCGGGGGCCTGGAAAACAGAGTAGTCGTTGGCGAAGGGCGAGCTGGAGGCGGCGGCTGCGGCGGCGGCGGCGGCGGCTGCGGCGCTGCTGGAGGTGAGGGAGAAGGCGCTGGAGCCAGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr7:20824939_20825106delGAGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCTGCCCCCGGAAACTCCGGGGGCCTGGAAAACAGAGTAGTCGTTGGCGAAGGGCGAGCTGGAGGCGGCGGCTGCGGCGGCGGCGGCGGCGGCTGCGGCGCTGCTGGAGGTGAGGGAGAAGGCGCTGGAGCCAGGC	ENST00000361443.4	-	3	513_680	c.276_443delGCCTGGCTCCAGCGCCTTCTCCCTCACCTCCAGCAGCGCCGCAGCCGCCGCCGCCGCCGCCGCAGCCGCCGCCTCCAGCTCGCCCTTCGCCAACGACTACTCTGTTTTCCAGGCCCCCGGAGTTTCCGGGGGCAGCGGCGGCGGCGGCGGGGGCGGCGGCGGCGGCTC	c.(274-444)tcgcctggctccagcgccttctccctcacctccagcagcgccgcagccgccgccgccgccgccgcagccgccgcctccagctcgcccttcgccaacgactactctgttttccaggcccccggagtttccgggggcagcggcggcggcggcgggggcggcggcggcggctcc>tcc	p.92_148SPGSSAFSLTSSSAAAAAAAAAAAASSSPFANDYSVFQAPGVSGGSGGGGGGGGGGS>S	SP8_ENST00000418710.2_In_Frame_Del_p.110_166SPGSSAFSLTSSSAAAAAAAAAAAASSSPFANDYSVFQAPGVSGGSGGGGGGGGGGS>S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	92	Ser-rich.				dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GTGCGCGGAGGAgccgccgccgccgcccccgccgccgccgccgctgcccccgGAAACTCCGGGGGCCTGGAAAACAGAGTAGTCGTTGGCGAAGGGCGAGCTGGAggcggcggctgcggcggcggcggcggcggctgcggcgCTGCTGGAGGTGAGGGAGAAGGCGCTGGAGCCAGGCGAGCCGCCGC	0.758																																																2	Deletion - In frame(2)	central_nervous_system(2)																																								SO:0001651	inframe_deletion	221833				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.276_443delGCCTGGCTCCAGCGCCTTCTCCCTCACCTCCAGCAGCGCCGCAGCCGCCGCCGCCGCCGCCGCAGCCGCCGCCTCCAGCTCGCCCTTCGCCAACGACTACTCTGTTTTCCAGGCCCCCGGAGTTTCCGGGGGCAGCGGCGGCGGCGGCGGGGGCGGCGGCGGCGGCTC	chr7.hg19:g.20824939_20825106delGAGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCTGCCCCCGGAAACTCCGGGGGCCTGGAAAACAGAGTAGTCGTTGGCGAAGGGCGAGCTGGAGGCGGCGGCTGCGGCGGCGGCGGCGGCGGCTGCGGCGCTGCTGGAGGTGAGGGAGAAGGCGCTGGAGCCAGGC	ENSP00000354482:p.Ser92_Gly147del		Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	hg19	CCDS5372.1																																																																																				0.758	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			-	20825106	GAGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCTGCCCCCGGAAACTCCGGGGGCCTGGAAAACAGAGTAGTCGTTGGCGAAGGGCGAGCTGGAGGCGGCGGCTGCGGCGGCGGCGGCGGCGGCTGCGGCGCTGCTGGAGGTGAGGGAGAAGGCGCTGGAGCCAGGC	-	20824939	7	5	35	1	0	1	0	1	0	0	0	0	14976	1174	41	0	1033	0	SP8	7	20824939	In_Frame_Del	DEL	GAGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCTGCCCCCGGAAACTCCGGGGGCCTGGAAAACAGAGTAGTCGTTGGCGAAGGGCGAGCTGGAGGCGGCGGCTGCGGCGGCGGCGGCGGCGGCTGCGGCGCTGCTGGAGGTGAGGGAGAAGGCGCTGGAGCCAGGC	TCGA-5P-A9K6-01A-11D-A42J-10		20824939	138313724	17	2538											
DNAJB9	4189	hgsc.bcm.edu	37	7	108213747	108213747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr7:108213747C>T	ENST00000249356.3	+	3	1168	c.622C>T	c.(622-624)Caa>Taa	p.Q208*	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	208					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						GACTGTCACTCAACGAAGAGG	0.378																																																0													103	102	102					7																	108213747		2203	4300	6503	SO:0001587	stop_gained	4189			AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.622C>T	chr7.hg19:g.108213747C>T	ENSP00000249356:p.Gln208*			Nonsense_Mutation	SNP	ENST00000249356.3	hg19	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	C	41	8.877952	0.98988	.	.	ENSG00000128590	ENST00000249356	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1901	0.93663	0.0:1.0:0.0:0.0	.	.	.	.	X	208	.	.	Q	+	1	0	DNAJB9	108000983	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.377000	0.79668	2.776000	0.95493	0.655000	0.94253	CAA		0.378	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			T	108213747	C	T	108213747	4	4	35	1	0	0	0	0	0	1	0	0	4629	827	29	2	628	2	DNAJB9	7	108213747	Nonsense_Mutation	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	87388808	108213747	50924916	18	2539											
SGK223	157285	hgsc.bcm.edu	37	8	8234618	8234618	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr8:8234618G>T	ENST00000520004.1	-	3	1565	c.1301C>A	c.(1300-1302)gCa>gAa	p.A434E	SGK223_ENST00000330777.4_Missense_Mutation_p.A434E			Q86YV5	SG223_HUMAN		436							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGCAGCAGCTGCATGTTCTAT	0.617																																					GBM(34;731 755 10259 33573 33867)											0													61	67	65					8																	8234618		2053	4200	6253	SO:0001583	missense	0																														ENST00000520004.1:c.1301C>A	chr8.hg19:g.8234618G>T	ENSP00000428054:p.Ala434Glu		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	hg19	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.703006	0.00719	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.56444	0.46;0.46	4.76	-0.32	0.12721	.	1.566350	0.03920	N	0.283453	T	0.36908	0.0984	L	0.36672	1.1	0.09310	N	1	B	0.31125	0.309	B	0.32289	0.143	T	0.13202	-1.0518	10	0.02654	T	1	.	5.1422	0.14965	0.3301:0.2621:0.4078:0.0	.	434	Q86YV5	SG223_HUMAN	E	434	ENSP00000330930:A434E;ENSP00000428054:A434E	ENSP00000330930:A434E	A	-	2	0	AC068353.1	8272028	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.166000	0.31834	-0.162000	0.10964	-0.175000	0.13238	GCA		0.617	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			T	8234618	G	T	8234618	3	4	35	1	0	0	0	0	1	0	0	0	14216	1319	46	4	2923	4	SGK223	8	8234618	Missense_Mutation	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10		8234618	138129404	19	2540											
PKN3	29941	hgsc.bcm.edu	37	9	131477092	131477093	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr9:131477092_131477093insAT	ENST00000291906.4	+	13	1993_1994	c.1600_1601insAT	c.(1600-1602)catfs	p.H534fs	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	534	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CAAACGTCCCCATATGGAGCCT	0.609																																																0																																										SO:0001589	frameshift_variant	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1603_1604dupAT	chr9.hg19:g.131477095_131477096dupAT	ENSP00000291906:p.His534fs		Q9UM03	Frame_Shift_Ins	INS	ENST00000291906.4	hg19	CCDS6908.1																																																																																				0.609	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		AT	131477093	-	AT	131477092	7	5	35	1	0	1	1	0	0	0	0	0	11983	594	21	0	1650	0	PKN3	9	131477092	Frame_Shift_Ins	INS	-	TCGA-5P-A9K6-01A-11D-A42J-10		131477092	9736339	20	2541											
ECD	11319	hgsc.bcm.edu	37	10	74920304	74920308	+	Splice_Site	DEL	CACCT	CACCT	-			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	CACCT	CACCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr10:74920304_74920308delCACCT	ENST00000372979.4	-	3	413_417	c.207_211delAGGTG	c.(205-213)ggaggtgtt>ggtt	p.GV70fs	ECD_ENST00000610256.1_5'UTR|ECD_ENST00000454759.2_Splice_Site_p.GV70fs|ECD_ENST00000430082.2_Splice_Site_p.GV70fs	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	70					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TGAGCAGGAACACCTCCTAAAAACA	0.337																																																0																																										SO:0001630	splice_region_variant	11319			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.206-1AGGTG>-	chr10.hg19:g.74920304_74920308delCACCT			C9JX46|E9PAW8	Frame_Shift_Del	DEL	ENST00000372979.4	hg19	CCDS7321.1																																																																																				0.337	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265	Frame_Shift_Del	-	74920308	CACCT	-	74920304	8	5	35	1	0	1	0	1	0	0	1	0	4890	478	17	0	1874	0	ECD	10	74920304	Splice_Site	DEL	CACCT	TCGA-5P-A9K6-01A-11D-A42J-10		74920304	60614443	21	2542	29	3									
ECD	11319	hgsc.bcm.edu	37	10	74920305	74920311	+	Splice_Site	DEL	ACCTCCT	ACCTCCT	-			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	ACCTCCT	ACCTCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr10:74920305_74920311delACCTCCT	ENST00000372979.4	-	3	412_416	c.206_210delAGGAGGT	c.(205-210)gaggag>g	p.EE69fs	ECD_ENST00000610256.1_5'UTR|ECD_ENST00000454759.2_Splice_Site_p.EE69fs|ECD_ENST00000430082.2_Splice_Site_p.EE69fs	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	69					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GAGCAGGAACACCTCCTAAAAACAAGA	0.343																																																0																																										SO:0001630	splice_region_variant	11319			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.206-1AGGAGGT>-	chr10.hg19:g.74920305_74920311delACCTCCT			C9JX46|E9PAW8	In_Frame_Del	DEL	ENST00000372979.4	hg19	CCDS7321.1																																																																																				0.343	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265	Frame_Shift_Del	-	74920311	ACCTCCT	-	74920305	8	5	35	1	0	1	0	1	0	0	1	0	4890	146	6	0	1875	0	ECD	10	74920305	Splice_Site	DEL	ACCTCCT	TCGA-5P-A9K6-01A-11D-A42J-10	1	74920305	60614442	22	2543	29	3									
ECD	11319	hgsc.bcm.edu	37	10	74920311	74920311	+	Splice_Site	SNP	T	T	G			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr10:74920311T>G	ENST00000372979.4	-	3	412		c.e3-2		ECD_ENST00000610256.1_Splice_Site|ECD_ENST00000454759.2_Splice_Site|ECD_ENST00000430082.2_Splice_Site	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)						cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GAACACCTCCTAAAAACAAGA	0.338																																																0													75	69	71					10																	74920311		2203	4300	6503	SO:0001630	splice_region_variant	11319			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.206-2A>C	chr10.hg19:g.74920311T>G			C9JX46|E9PAW8	Splice_Site	SNP	ENST00000372979.4	hg19	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063343	0.76187	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000413026	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7558	0.57335	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ECD	74590317	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	7.209000	0.77916	1.907000	0.55213	0.533000	0.62120	.		0.338	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265	Intron	G	74920311	T	G	74920311	5	3	35	1	0	0	0	0	0	0	1	0	4890	1536	53	5	1881	5	ECD	10	74920311	Splice_Site	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10	6	74920311	60614436	23	2544	29	3									
INPP5F	79892	hgsc.bcm.edu	37	10	121586617	121586617	+	IGR	SNP	T	T	C			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr10:121586617T>C	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Silent_p.L908L|INPP5F_ENST00000369080.3_Silent_p.L298L	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						CCCAGTCTCTTAGCAGCACAG	0.478																																																0													127	102	111					10																	121586617		2203	4300	6503	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		chr10.hg19:g.121586617T>C			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	hg19	CCDS7617.1																																																																																				0.478	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		C	121586617	T	C	121586617	1	2	35	0	1	0	0	0	0	0	0	0	7760	1741	61	3		3	INPP5F	10	121586617	IGR	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10	46666306	121586617	13948130	24	2545											
AP2A2	161	hgsc.bcm.edu	37	11	977190	977190	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr11:977190C>T	ENST00000448903.2	+	5	710	c.569C>T	c.(568-570)tCc>tTc	p.S190F	AP2A2_ENST00000534328.1_Missense_Mutation_p.S190F|AP2A2_ENST00000332231.5_Missense_Mutation_p.S190F	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	190					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GACTGGACATCCCGAGTGGTG	0.602																																																0													59	67	65					11																	977190		2122	4216	6338	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.569C>T	chr11.hg19:g.977190C>T	ENSP00000413234:p.Ser190Phe		O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	hg19	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	c	13.17	2.158320	0.38119	.	.	ENSG00000183020	ENST00000525796;ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000534485;ENST00000329626	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.7	2.8	2.8	0.32819	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.075573	0.56097	D	0.000038	T	0.63616	0.2526	M	0.83603	2.65	0.58432	D	0.999998	P;D;D	0.71674	0.943;0.998;0.997	P;P;D	0.64237	0.86;0.856;0.923	T	0.73161	-0.4070	10	0.72032	D	0.01	-32.6353	14.8145	0.70020	0.0:1.0:0.0:0.0	.	83;190;190	Q59FN8;O94973-2;O94973	.;.;AP2A2_HUMAN	F	30;190;190;190;190;190;180;63	ENSP00000437228:S30F;ENSP00000436059:S190F;ENSP00000413234:S190F;ENSP00000327694:S190F;ENSP00000435756:S180F	ENSP00000328024:S63F	S	+	2	0	AP2A2	967190	1.000000	0.71417	0.102000	0.21198	0.011000	0.07611	7.541000	0.82084	1.895000	0.54865	0.586000	0.80456	TCC		0.602	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		T	977190	C	T	977190	3	4	35	1	0	0	0	0	1	0	0	0	740	855	30	2	587	2	AP2A2	11	977190	Missense_Mutation	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10		977190	134029326	25	2546											
TPH1	7166	hgsc.bcm.edu	37	11	18051107	18051107	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr11:18051107T>C	ENST00000250018.2	-	4	984	c.422A>G	c.(421-423)tAc>tGc	p.Y141C	TPH1_ENST00000341556.2_Missense_Mutation_p.Y141C	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	141					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACGTTTACGGTAGACATTGTC	0.264																																																0													57	61	60					11																	18051107		2198	4285	6483	SO:0001583	missense	7166			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.422A>G	chr11.hg19:g.18051107T>C	ENSP00000250018:p.Tyr141Cys		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	hg19	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860327	0.71834	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99795	-6.78;-6.78;-6.78	5.75	5.75	0.90469	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96375	0.9277	10	0.87932	D	0	-15.8182	16.0614	0.80839	0.0:0.0:0.0:1.0	.	141	P17752	TPH1_HUMAN	C	141;141;151	ENSP00000250018:Y141C;ENSP00000343550:Y141C;ENSP00000436081:Y151C	ENSP00000250018:Y141C	Y	-	2	0	TPH1	18007683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.136000	0.71703	2.191000	0.70037	0.528000	0.53228	TAC		0.264	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		C	18051107	T	C	18051107	3	2	35	1	0	0	0	0	1	0	0	0	16406	1638	57	3	940	3	TPH1	11	18051107	Missense_Mutation	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10	17073917	18051107	116955409	26	2547											
ZNF259	8882	hgsc.bcm.edu	37	11	116655623	116655623	+	Silent	SNP	G	G	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr11:116655623G>A	ENST00000227322.3	-	8	827	c.768C>T	c.(766-768)agC>agT	p.S256S		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		256					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		GGCAGTTTGTGCTGAACTGGA	0.507																																																0													121	104	110					11																	116655623		2201	4296	6497	SO:0001819	synonymous_variant	8882																														ENST00000227322.3:c.768C>T	chr11.hg19:g.116655623G>A			Q2TAA0	Silent	SNP	ENST00000227322.3	hg19	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.834|7.834	0.720560|0.720560	0.15372|0.15372	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000444935|ENST00000429220	.|.	.|.	.|.	5.92|5.92	3.07|3.07	0.35406|0.35406	.|.	.|.	.|.	.|.	.|.	T|T	0.54143|0.54143	0.1840|0.1840	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47873|0.47873	-0.9083|-0.9083	4|4	.|.	.|.	.|.	-17.5691|-17.5691	5.7069|5.7069	0.17913|0.17913	0.2102:0.0:0.6522:0.1376|0.2102:0.0:0.6522:0.1376	.|.	.|.	.|.	.|.	V|Y	256|183	.|.	.|.	A|H	-|-	2|1	0|0	ZNF259|ZNF259	116160833|116160833	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.685000|0.685000	0.39939|0.39939	0.961000|0.961000	0.29267|0.29267	0.845000|0.845000	0.35118|0.35118	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.507	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			A	116655623	G	A	116655623	2	1	35	1	0	0	0	0	0	0	0	1	17806	1310	46	2		2	ZNF259	11	116655623	Silent	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10	98604516	116655623	18350893	27	2548											
B4GALNT3	283358	hgsc.bcm.edu	37	12	668503	668503	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr12:668503A>T	ENST00000266383.5	+	19	2817	c.2804A>T	c.(2803-2805)aAg>aTg	p.K935M		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	935					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGCATCTACAAGTCTGACCTG	0.602																																																0													127	132	130					12																	668503		2203	4300	6503	SO:0001583	missense	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2804A>T	chr12.hg19:g.668503A>T	ENSP00000266383:p.Lys935Met		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	hg19	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539637	0.85917	.	.	ENSG00000139044	ENST00000266383	T	0.40756	1.02	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	M	0.89095	3.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.77024	-0.2741	10	0.87932	D	0	-40.3422	14.6956	0.69118	1.0:0.0:0.0:0.0	.	935	Q6L9W6	B4GN3_HUMAN	M	935	ENSP00000266383:K935M	ENSP00000266383:K935M	K	+	2	0	B4GALNT3	538764	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.223000	0.95203	1.930000	0.55929	0.379000	0.24179	AAG		0.602	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		T	668503	A	T	668503	3	4	35	1	0	0	0	0	1	0	0	0	1268	72	3	5	2878	5	B4GALNT3	12	668503	Missense_Mutation	SNP	A	TCGA-5P-A9K6-01A-11D-A42J-10		668503	133183392	28	2549											
KIAA0528	9847	hgsc.bcm.edu	37	12	22606969	22606969	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr12:22606969C>A	ENST00000333957.4	-	24	2987	c.2732G>T	c.(2731-2733)gGa>gTa	p.G911V	C2CD5_ENST00000545552.1_Missense_Mutation_p.G965V|C2CD5_ENST00000396028.2_Missense_Mutation_p.G953V|C2CD5_ENST00000544930.1_Missense_Mutation_p.G767V|C2CD5_ENST00000536386.1_Missense_Mutation_p.G964V|C2CD5_ENST00000542676.1_Missense_Mutation_p.G962V|C2CD5_ENST00000446597.1_Missense_Mutation_p.G962V	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	911					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ACCACTGACTCCTCCTTCCTA	0.358																																																0													90	80	83					12																	22606969		2203	4300	6503	SO:0001583	missense	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2732G>T	chr12.hg19:g.22606969C>A	ENSP00000334229:p.Gly911Val		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	hg19	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.123537|4.123537	0.77436|0.77436	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000539615|ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	.|T;T;T;T;T;T	.|0.74209	.|-0.79;-0.79;-0.82;-0.8;-0.79;-0.8	5.41|5.41	4.53|4.53	0.55603|0.55603	.|.	.|0.062767	.|0.64402	.|D	.|0.000005	.|D	.|0.85221	.|0.5647	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.999;0.999;1.0;0.988	.|D	.|0.86983	.|0.2105	.|10	.|0.87932	.|D	.|0	-20.1497|-20.1497	14.1353|14.1353	0.65284|0.65284	0.0:0.9278:0.0:0.0722|0.0:0.9278:0.0:0.0722	.|.	.|964;962;767;953;911	.|F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7	.|.;.;.;.;K0528_HUMAN	X|V	212|911;962;964;953;962;965;767	.|ENSP00000334229:G911V;ENSP00000388756:G962V;ENSP00000439392:G964V;ENSP00000379345:G953V;ENSP00000441951:G962V;ENSP00000443204:G965V	.|ENSP00000334229:G911V	E|G	-|-	1|2	0|0	KIAA0528|KIAA0528	22498236|22498236	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.972000|0.972000	0.66771|0.66771	7.493000|7.493000	0.81493|0.81493	1.281000|1.281000	0.44480|0.44480	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.358	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		A	22606969	C	A	22606969	3	1	35	1	0	0	0	0	1	0	0	0	8184	855	30	4	278	4	KIAA0528	12	22606969	Missense_Mutation	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	21938466	22606969	111244926	29	2550											
KRT84	3890	hgsc.bcm.edu	37	12	52776299	52776299	+	Silent	SNP	G	G	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr12:52776299G>A	ENST00000257951.3	-	4	900	c.834C>T	c.(832-834)ttC>ttT	p.F278F	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	278	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTTGTTCATGAAAGCTGCAT	0.458																																																0													131	117	122					12																	52776299		2203	4300	6503	SO:0001819	synonymous_variant	3890			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.834C>T	chr12.hg19:g.52776299G>A			B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	hg19	CCDS8825.1																																																																																				0.458	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		A	52776299	G	A	52776299	2	1	35	1	0	0	0	0	0	0	0	1	8500	1281	45	2		2	KRT84	12	52776299	Silent	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10	30169330	52776299	81075596	30	2551											
OR4E2	26686	hgsc.bcm.edu	37	14	22133689	22133689	+	Silent	SNP	C	C	T			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr14:22133689C>T	ENST00000408935.1	+	1	393	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTCCACTCCACTACCCCAATG	0.483																																																0													191	180	184					14																	22133689		2042	4205	6247	SO:0001819	synonymous_variant	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.393C>T	chr14.hg19:g.22133689C>T			Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	hg19	CCDS41916.1																																																																																				0.483	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			T	22133689	C	T	22133689	2	4	35	1	0	0	0	0	0	0	0	1	11062	564	20	2		2	OR4E2	14	22133689	Silent	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10		22133689	85215851	31	2552											
G2E3	55632	hgsc.bcm.edu	37	14	31085631	31085631	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr14:31085631C>T	ENST00000206595.6	+	15	2166	c.2012C>T	c.(2011-2013)gCa>gTa	p.A671V	G2E3_ENST00000438909.2_Missense_Mutation_p.A625V|G2E3_ENST00000553504.1_Missense_Mutation_p.A701V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	671	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AACTGTTTAGCAATTCCCATC	0.368																																																0													65	60	62					14																	31085631		2203	4300	6503	SO:0001583	missense	55632			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.2012C>T	chr14.hg19:g.31085631C>T	ENSP00000206595:p.Ala671Val		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	hg19	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	2.276	-0.365809	0.05069	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.57752	0.38;0.38;0.38	5.8	1.92	0.25849	HECT (3);	0.807701	0.12051	N	0.504113	T	0.27349	0.0671	N	0.17474	0.49	0.09310	N	0.999996	B;B	0.14438	0.01;0.001	B;B	0.17433	0.018;0.003	T	0.29792	-1.0000	10	0.02654	T	1	-1.326	4.2841	0.10846	0.2379:0.4554:0.0:0.3066	.	183;671	Q49AD9;Q7L622	.;G2E3_HUMAN	V	671;625;701	ENSP00000206595:A671V;ENSP00000391068:A625V;ENSP00000451653:A701V	ENSP00000206595:A671V	A	+	2	0	G2E3	30155382	0.968000	0.33430	0.995000	0.50966	0.629000	0.37895	1.333000	0.33816	0.353000	0.24079	0.591000	0.81541	GCA		0.368	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		T	31085631	C	T	31085631	3	4	35	1	0	0	0	0	1	0	0	0	6142	710	25	2	2066	2	G2E3	14	31085631	Missense_Mutation	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	8951942	31085631	76263909	32	2553											
BTBD7	55727	hgsc.bcm.edu	37	14	93761032	93761032	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr14:93761032T>G	ENST00000334746.5	-	3	641	c.334A>C	c.(334-336)Aag>Cag	p.K112Q	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Missense_Mutation_p.K112Q|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000298896.3_Missense_Mutation_p.K112Q	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	112					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAAAGCTCCTTTAATGCTGAT	0.453																																																0													87	77	81					14																	93761032		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.334A>C	chr14.hg19:g.93761032T>G	ENSP00000335615:p.Lys112Gln		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	hg19	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174317	0.78452	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525	T	0.46819	0.86	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.991;0.991	T	0.68265	-0.5454	10	0.72032	D	0.01	.	16.3224	0.82956	0.0:0.0:0.0:1.0	.	112;112;112	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	Q	112	ENSP00000335615:K112Q	ENSP00000298896:K112Q	K	-	1	0	BTBD7	92830785	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	AAG		0.453	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		G	93761032	T	G	93761032	3	3	35	1	0	0	0	0	1	0	0	0	1548	1850	64	5	3175	5	BTBD7	14	93761032	Missense_Mutation	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10	62675401	93761032	13588508	33	2554											
FAM98B	283742	hgsc.bcm.edu	37	15	38776827	38776827	+	IGR	SNP	T	T	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr15:38776827T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G423G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		gtggtggtggtggtggtggag	0.443																																																0													19	18	18					15																	38776827		1515	3413	4928	SO:0001628	intergenic_variant	283742				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		chr15.hg19:g.38776827T>A			A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	hg19	CCDS42015.1																																																																																				0.443	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		A	38776827	T	A	38776827	1	1	35	0	1	0	0	0	0	0	0	0	5659	1683	59	5		5	FAM98B	15	38776827	IGR	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10		38776827	63754565	34	2555											
TGFB1I1	7041	hgsc.bcm.edu	37	16	31488254	31488254	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr16:31488254G>T	ENST00000394863.3	+	10	1172	c.1042G>T	c.(1042-1044)Ggc>Tgc	p.G348C	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.G331C|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.G331C|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.G331C	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	348	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GCGCTGCCAGGGCTGCCAGGG	0.692																																																0													10	11	11					16																	31488254		2183	4269	6452	SO:0001583	missense	7041			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.1042G>T	chr16.hg19:g.31488254G>T	ENSP00000378332:p.Gly348Cys		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	hg19	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216196	0.95104	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	D;D;D	0.89050	-2.46;-2.46;-2.46	5.35	4.39	0.52855	Zinc finger, LIM-type (5);	0.049439	0.85682	D	0.000000	D	0.95111	0.8416	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95618	0.8678	10	0.87932	D	0	.	12.2376	0.54524	0.0837:0.0:0.9163:0.0	.	348	O43294	TGFI1_HUMAN	C	348;331;331	ENSP00000378332:G348C;ENSP00000355117:G331C;ENSP00000378327:G331C	ENSP00000355117:G331C	G	+	1	0	TGFB1I1	31395755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.737000	0.98831	1.391000	0.46566	0.484000	0.47621	GGC		0.692	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			T	31488254	G	T	31488254	3	4	35	1	0	0	0	0	1	0	0	0	15822	1232	43	4	1080	4	TGFB1I1	16	31488254	Missense_Mutation	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10		31488254	58866499	35	2556											
COG4	25839	hgsc.bcm.edu	37	16	70543137	70543137	+	Silent	SNP	C	C	T			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr16:70543137C>T	ENST00000323786.5	-	7	1020	c.999G>A	c.(997-999)caG>caA	p.Q333Q	COG4_ENST00000393612.4_Silent_p.Q329Q	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	329					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TGCTCACCTGCTGGTGGTAGT	0.458																																																0													163	146	152					16																	70543137		2198	4300	6498	SO:0001819	synonymous_variant	25839			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.999G>A	chr16.hg19:g.70543137C>T			B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	ENST00000323786.5	hg19	CCDS10892.2																																																																																				0.458	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			T	70543137	C	T	70543137	2	4	35	1	0	0	0	0	0	0	0	1	3662	796	28	2		2	COG4	16	70543137	Silent	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	39054883	70543137	19811616	36	2557											
METT10D	79066	hgsc.bcm.edu	37	17	2405596	2405596	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr17:2405596T>G	ENST00000263092.6	-	2	157	c.30A>C	c.(28-30)agA>agC	p.R10S	METTL16_ENST00000571669.2_Intron|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	10							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TGTATCTATTTCTTGCATGCA	0.393																																																0													179	156	164					17																	2405596		1852	4101	5953	SO:0001583	missense	79066			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"methyltransferase 10 domain containing"	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.30A>C	chr17.hg19:g.2405596T>G	ENSP00000263092:p.Arg10Ser		D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	hg19	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810352	0.70797	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.58940	0.3	5.63	-0.311	0.12761	.	0.000000	0.85682	D	0.000000	T	0.75057	0.3798	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.972;0.999	T	0.72074	-0.4400	10	0.87932	D	0	-8.5176	5.0389	0.14449	0.1296:0.2868:0.0:0.5836	.	10;10	Q86W50-2;Q86W50	.;MET16_HUMAN	S	10	ENSP00000263092:R10S	ENSP00000263092:R10S	R	-	3	2	METTL16	2352346	0.998000	0.40836	0.999000	0.59377	0.962000	0.63368	0.343000	0.19944	0.081000	0.16988	-0.444000	0.05651	AGA		0.393	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		G	2405596	T	G	2405596	3	3	35	1	0	0	0	0	1	0	0	0	9492	1780	62	5	1694	5	METT10D	17	2405596	Missense_Mutation	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10		2405596	78789614	37	2558											
MYH10	4628	hgsc.bcm.edu	37	17	8438748	8438748	+	Silent	SNP	C	C	T			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr17:8438748C>T	ENST00000269243.4	-	15	1959	c.1821G>A	c.(1819-1821)ttG>ttA	p.L607L	MYH10_ENST00000360416.3_Silent_p.L617L|MYH10_ENST00000396239.1_Silent_p.L607L|MYH10_ENST00000379980.4_Silent_p.L623L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	607	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATGACTGGTGCAAAAGGGTGG	0.443																																																0													103	94	97					17																	8438748		2203	4300	6503	SO:0001819	synonymous_variant	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1821G>A	chr17.hg19:g.8438748C>T			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	hg19	CCDS11144.1																																																																																				0.443	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			T	8438748	C	T	8438748	2	4	35	1	0	0	0	0	0	0	0	1	10032	709	25	2		2	MYH10	17	8438748	Silent	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	6033152	8438748	72756462	38	2559											
RAI1	10743	hgsc.bcm.edu	37	17	17697096	17697096	+	Missense_Mutation	SNP	G	G	C	rs113303801|rs398124422|rs371983878|rs571229335|rs587780431	byFrequency	TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr17:17697096G>C	ENST00000353383.1	+	3	1303	c.834G>C	c.(832-834)caG>caC	p.Q278H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	278	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTATGACcagcagcagcagc	0.637																																																0													18	23	22					17																	17697096		2081	4107	6188	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.834G>C	chr17.hg19:g.17697096G>C	ENSP00000323074:p.Gln278His		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	g	0.076	-1.192861	0.01607	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69806	-0.43;1.41;0.17	4.53	-9.06	0.00727	.	0.597522	0.15390	N	0.264894	T	0.43743	0.1261	L	0.39898	1.24	0.18873	N	0.999987	P	0.37864	0.61	B	0.37198	0.243	T	0.31392	-0.9945	10	0.35671	T	0.21	.	4.0515	0.09798	0.4386:0.1326:0.3468:0.0819	.	278	Q7Z5J4	RAI1_HUMAN	H	278;278;278;278;278;255	ENSP00000323074:Q278H;ENSP00000379120:Q278H;ENSP00000261641:Q278H	ENSP00000261641:Q278H	Q	+	3	2	RAI1	17637821	0.953000	0.32496	0.000000	0.03702	0.311000	0.27955	0.063000	0.14410	-2.722000	0.00388	-1.461000	0.01025	CAG		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		C	17697096	G	C	17697096	3	2	35	1	0	0	0	0	1	0	0	0	13013	962	34	4	836	4	RAI1	17	17697096	Missense_Mutation	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10	9258348	17697096	63498114	39	2560											
KRTAP4-11	653240	hgsc.bcm.edu	37	17	39274461	39274461	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr17:39274461C>G	ENST00000391413.2	-	1	145	c.107G>C	c.(106-108)aGg>aCg	p.R36T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	36	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GTAGGTGGTCCTGCAGCAGGT	0.662																																																0													21	24	23					17																	39274461		692	1591	2283	SO:0001583	missense	653240			AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.107G>C	chr17.hg19:g.39274461C>G	ENSP00000375232:p.Arg36Thr		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	hg19	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	8.971	0.972966	0.18736	.	.	ENSG00000212721	ENST00000391413	T	0.01379	4.96	4.17	0.917	0.19380	.	.	.	.	.	T	0.02727	0.0082	M	0.90145	3.09	0.09310	N	1	B	0.22983	0.078	B	0.25614	0.062	T	0.48410	-0.9038	9	0.14252	T	0.57	.	3.4615	0.07535	0.3471:0.4506:0.0:0.2022	.	36	Q9BYQ6	KR411_HUMAN	T	36	ENSP00000375232:R36T	ENSP00000375232:R36T	R	-	2	0	KRTAP4-11	36527987	0.000000	0.05858	0.607000	0.28956	0.268000	0.26511	-0.865000	0.04250	0.397000	0.25310	-0.243000	0.11985	AGG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			G	39274461	C	G	39274461	3	3	35	1	0	0	0	0	1	0	0	0	8551	681	24	4	484	4	KRTAP4-11	17	39274461	Missense_Mutation	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	21577365	39274461	41920749	40	2561											
TOM1L1	10040	hgsc.bcm.edu	37	17	52990171	52990171	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr17:52990171A>G	ENST00000575882.1	+	4	720	c.367A>G	c.(367-369)Att>Gtt	p.I123V	TOM1L1_ENST00000348161.4_Missense_Mutation_p.I46V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.I46V|TOM1L1_ENST00000572158.1_Missense_Mutation_p.I116V|TOM1L1_ENST00000536554.1_Missense_Mutation_p.I46V|TOM1L1_ENST00000575333.1_Missense_Mutation_p.I123V|TOM1L1_ENST00000570371.1_Missense_Mutation_p.I123V|TOM1L1_ENST00000572405.1_Missense_Mutation_p.I88V|TOM1L1_ENST00000445275.2_Missense_Mutation_p.I123V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	123	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CTTGAATTTCATTAAGGTAAG	0.313																																																0													56	58	57					17																	52990171		2203	4299	6502	SO:0001583	missense	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.367A>G	chr17.hg19:g.52990171A>G	ENSP00000460823:p.Ile123Val		Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	hg19	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309181	0.40895	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.72	4.65	0.58169	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.244803	0.33916	N	0.004422	T	0.26919	0.0659	M	0.63428	1.95	0.43673	D	0.996109	P;P;P;P;B;P	0.45396	0.826;0.647;0.685;0.647;0.043;0.857	B;B;B;B;B;B	0.41412	0.338;0.176;0.356;0.19;0.037;0.356	T	0.05053	-1.0909	10	0.56958	D	0.05	-12.0729	9.2264	0.37410	0.9156:0.0:0.0844:0.0	.	46;116;46;123;123;46	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749;B4E1M9	.;.;.;TM1L1_HUMAN;.;.	V	123;46;46;46	ENSP00000408958:I123V;ENSP00000441242:I46V;ENSP00000343901:I46V;ENSP00000443099:I46V	ENSP00000343901:I46V	I	+	1	0	TOM1L1	50345170	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.061000	0.64319	2.184000	0.69523	0.460000	0.39030	ATT		0.313	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		G	52990171	A	G	52990171	3	3	35	1	0	0	0	0	1	0	0	0	16357	217	8	3	381	3	TOM1L1	17	52990171	Missense_Mutation	SNP	A	TCGA-5P-A9K6-01A-11D-A42J-10	13715710	52990171	28205039	41	2562											
TEX14	56155	hgsc.bcm.edu	37	17	56670954	56670954	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr17:56670954C>A	ENST00000240361.8	-	15	2641	c.2556G>T	c.(2554-2556)aaG>aaT	p.K852N	TEX14_ENST00000389934.3_Missense_Mutation_p.K846N|TEX14_ENST00000349033.5_Missense_Mutation_p.K846N			Q8IWB6	TEX14_HUMAN	testis expressed 14	852					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAAACTGTCCTTGGCTCCTT	0.418																																																0													210	158	176					17																	56670954		2203	4300	6503	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2556G>T	chr17.hg19:g.56670954C>A	ENSP00000240361:p.Lys852Asn		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	hg19	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352807	0.24512	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80566	-1.39;-1.39;-1.34	4.78	0.311	0.15831	.	0.716733	0.13889	N	0.355726	T	0.74253	0.3692	L	0.57536	1.79	0.09310	N	1	P;P;P	0.46142	0.704;0.873;0.804	B;B;P	0.44860	0.162;0.436;0.462	T	0.63065	-0.6720	10	0.38643	T	0.18	-8.5367	4.1126	0.10065	0.0:0.5389:0.1727:0.2884	.	852;846;846	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	N	852;846;846	ENSP00000240361:K852N;ENSP00000374584:K846N;ENSP00000268910:K846N	ENSP00000240361:K852N	K	-	3	2	TEX14	54025953	0.050000	0.20438	0.705000	0.30386	0.036000	0.12997	0.098000	0.15189	0.336000	0.23639	-0.251000	0.11542	AAG		0.418	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			A	56670954	C	A	56670954	3	1	35	1	0	0	0	0	1	0	0	0	15783	680	24	4	2013	4	TEX14	17	56670954	Missense_Mutation	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	3680783	56670954	24524256	42	2563											
SMCHD1	23347	hgsc.bcm.edu	37	18	2729383	2729383	+	Silent	SNP	G	G	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr18:2729383G>A	ENST00000320876.6	+	24	3362	c.3024G>A	c.(3022-3024)acG>acA	p.T1008T	SMCHD1_ENST00000261598.8_Silent_p.T1008T|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1008					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGACCAGACGCTTAAAGCAA	0.313																																																0													43	40	41					18																	2729383		1791	4050	5841	SO:0001819	synonymous_variant	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3024G>A	chr18.hg19:g.2729383G>A			O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	hg19	CCDS45822.1																																																																																				0.313	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			A	2729383	G	A	2729383	2	1	35	1	0	0	0	0	0	0	0	1	14794	1074	38	1		1	SMCHD1	18	2729383	Silent	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10		2729383	75347865	43	2564											
C18orf8	29919	hgsc.bcm.edu	37	18	21106695	21106695	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr18:21106695A>C	ENST00000269221.3	+	13	1265	c.1155A>C	c.(1153-1155)gaA>gaC	p.E385D	C18orf8_ENST00000590868.1_Missense_Mutation_p.E337D	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	385						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAGAAAGGAATGCAAGATGG	0.463																																																0													121	113	116					18																	21106695		2203	4300	6503	SO:0001583	missense	29919			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1155A>C	chr18.hg19:g.21106695A>C	ENSP00000269221:p.Glu385Asp		Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	hg19	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	A	9.126	1.010228	0.19277	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	4.86	-9.72	0.00515	.	0.162119	0.53938	N	0.000044	T	0.08537	0.0212	N	0.00327	-1.64	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.40887	-0.9539	9	0.08179	T	0.78	-8.5287	9.6011	0.39605	0.3022:0.2706:0.4272:0.0	.	228;385	B7Z2Y1;Q96DM3	.;MIC1_HUMAN	D	385;228;337;228	.	ENSP00000269221:E385D	E	+	3	2	C18orf8	19360693	0.997000	0.39634	0.870000	0.34147	0.995000	0.86356	0.548000	0.23314	-1.505000	0.01807	0.533000	0.62120	GAA		0.463	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		C	21106695	A	C	21106695	3	2	35	1	0	0	0	0	1	0	0	0	1909	98	4	5	1205	5	C18orf8	18	21106695	Missense_Mutation	SNP	A	TCGA-5P-A9K6-01A-11D-A42J-10	18377312	21106695	56970553	44	2565											
ZNF562	54811	hgsc.bcm.edu	37	19	9763811	9763811	+	Silent	SNP	A	A	G			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr19:9763811A>G	ENST00000448622.1	-	6	1257	c.1095T>C	c.(1093-1095)aaT>aaC	p.N365N	ZNF562_ENST00000453372.2_Silent_p.N365N|ZNF562_ENST00000537617.1_Silent_p.N249N|ZNF562_ENST00000293648.4_Silent_p.N293N|ZNF562_ENST00000590155.1_Silent_p.N364N|ZNF562_ENST00000541032.1_Silent_p.N328N|ZNF562_ENST00000453792.2_Silent_p.N296N	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CTCCAGTGTGATTTCGTATGT	0.428																																																0													137	129	132					19																	9763811		2203	4300	6503	SO:0001819	synonymous_variant	54811			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"Zinc fingers, C2H2-type", "-"	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1095T>C	chr19.hg19:g.9763811A>G			Q32MN2|Q9NXS5	Silent	SNP	ENST00000448622.1	hg19	CCDS45956.1																																																																																				0.428	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		G	9763811	A	G	9763811	2	3	35	1	0	0	0	0	0	0	0	1	17998	330	12	3		3	ZNF562	19	9763811	Silent	SNP	A	TCGA-5P-A9K6-01A-11D-A42J-10		9763811	49365172	45	2566											
AP2S1	1175	hgsc.bcm.edu	37	19	47341743	47341743	+	Silent	SNP	C	C	T			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr19:47341743C>T	ENST00000263270.6	-	5	615	c.390G>A	c.(388-390)aaG>aaA	p.K130K	AP2S1_ENST00000593442.1_Silent_p.K80K|AP2S1_ENST00000352203.4_Silent_p.K144K|AP2S1_ENST00000601498.1_Silent_p.K146K|AP2S1_ENST00000601649.1_Silent_p.K92K|AP2S1_ENST00000597020.1_Silent_p.K110K|AP2S1_ENST00000599990.1_Silent_p.K132K	NM_004069.3	NP_004060.2	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1 subunit	130					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|regulation of endocytosis (GO:0030100)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(1)|urinary_tract(1)	3		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		GTTTCAGCACCTTCGTCTGGC	0.657																																																0													54	45	48					19																	47341743		2203	4300	6503	SO:0001819	synonymous_variant	1175			AJ010148	CCDS12693.1, CCDS33062.1	19q13.2-q13.3	2014-02-04				ENSG00000042753			565	protein-coding gene	gene with protein product		602242	"hypocalciuric hypercalcemia 3 (Oklahoma type)"	CLAPS2, HHC3		9040778, 9767099, 23222959	Standard	XM_005258500		Approved	FBHOk, FBH3	uc002pft.1	P53680		ENST00000263270.6:c.390G>A	chr19.hg19:g.47341743C>T			B2R4Z4|O75977|Q6PK67	Silent	SNP	ENST00000263270.6	hg19	CCDS33062.1																																																																																				0.657	AP2S1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466643.1			T	47341743	C	T	47341743	2	4	35	1	0	0	0	0	0	0	0	1	743	680	24	2		2	AP2S1	19	47341743	Silent	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	37577932	47341743	11787240	46	2567											
C19orf18	147685	hgsc.bcm.edu	37	19	58472818	58472818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr19:58472818delC	ENST00000314391.3	-	5	574	c.473delG	c.(472-474)ggtfs	p.G158fs		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	158						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CGTGGACTCACCCTCGTCCTC	0.493																																																0													176	139	152					19																	58472818		2203	4300	6503	SO:0001589	frameshift_variant	147685			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.473delG	chr19.hg19:g.58472818delC	ENSP00000321519:p.Gly158fs			Frame_Shift_Del	DEL	ENST00000314391.3	hg19	CCDS12967.1																																																																																				0.493	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		-	58472818	C	-	58472818	7	5	35	1	0	1	0	1	0	0	0	0	1912	507	18	0	182	0	C19orf18	19	58472818	Frame_Shift_Del	DEL	C	TCGA-5P-A9K6-01A-11D-A42J-10	11131075	58472818	656165	47	2568											
ACSS1	84532	hgsc.bcm.edu	37	20	25004243	25004243	+	Silent	SNP	T	T	C			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr20:25004243T>C	ENST00000323482.4	-	4	745	c.666A>G	c.(664-666)ggA>ggG	p.G222G	ACSS1_ENST00000542618.1_Silent_p.G101G|ACSS1_ENST00000537502.1_Silent_p.G139G|ACSS1_ENST00000432802.2_Silent_p.G222G	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	222					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCCCGGAGTCCTTGGTTGA	0.537																																																0													75	65	69					20																	25004243		2203	4300	6503	SO:0001819	synonymous_variant	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.666A>G	chr20.hg19:g.25004243T>C			B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	hg19	CCDS13167.1																																																																																				0.537	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		C	25004243	T	C	25004243	2	2	35	1	0	0	0	0	0	0	0	1	188	1654	58	3		3	ACSS1	20	25004243	Silent	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10		25004243	38021277	48	2569											
C20orf160	140706	hgsc.bcm.edu	37	20	30602782	30602782	+	Missense_Mutation	SNP	C	C	T	rs545553537		TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr20:30602782C>T	ENST00000300415.8	+	2	119	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	CCM2L_ENST00000262659.8_Missense_Mutation_p.R36C			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	36																	CAGCGTGAGCCGCCGGCCCCT	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15977	0.0		0.0	False		,,,				2504	0.0															0													72	72	72					20																	30602782		2203	4300	6503	SO:0001583	missense	140706			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 160"	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.106C>T	chr20.hg19:g.30602782C>T	ENSP00000300415:p.Arg36Cys		Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	hg19		.	.	.	.	.	.	.	.	.	.	C	29.4	5.007033	0.93287	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.60171	0.21;0.21	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81328	-0.0982	10	0.87932	D	0	-39.7528	16.7122	0.85388	0.0:1.0:0.0:0.0	.	36	Q9NUG4-2	.	C	36	ENSP00000300415:R36C;ENSP00000262659:R36C	ENSP00000262659:R36C	R	+	1	0	C20orf160	30066443	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.299000	0.65716	2.418000	0.82041	0.655000	0.94253	CGC		0.637	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		T	30602782	C	T	30602782	3	4	35	1	0	0	0	0	1	0	0	0	2095	652	23	1	112	1	C20orf160	20	30602782	Missense_Mutation	SNP	C	TCGA-5P-A9K6-01A-11D-A42J-10	5598539	30602782	32422738	49	2570											
MAPK1	5594	hgsc.bcm.edu	37	22	22160189	22160189	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr22:22160189G>A	ENST00000215832.6	-	3	630	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	MAPK1_ENST00000398822.3_Missense_Mutation_p.R148C|MAPK1_ENST00000544786.1_Missense_Mutation_p.R148C	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	TTGAGGTCACGGTGCAGAACG	0.428																																																0													195	175	182					22																	22160189		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.442C>T	chr22.hg19:g.22160189G>A	ENSP00000215832:p.Arg148Cys		A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	hg19	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583812	0.86748	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.64803	-0.12;-0.12;-0.12	4.77	3.76	0.43208	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050300	0.85682	N	0.000000	T	0.78117	0.4233	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.81491	-0.0909	10	0.87932	D	0	0.4712	13.3578	0.60638	0.0765:0.0:0.9235:0.0	.	148;148	A8CZ64;P28482	.;MK01_HUMAN	C	148;136;148;148	ENSP00000215832:R148C;ENSP00000381803:R148C;ENSP00000440842:R148C	ENSP00000215832:R148C	R	-	1	0	MAPK1	20490189	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.654000	0.83653	1.374000	0.46228	0.650000	0.86243	CGT		0.428	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			A	22160189	G	A	22160189	3	1	35	1	0	0	0	0	1	0	0	0	9273	1116	39	1	664	1	MAPK1	22	22160189	Missense_Mutation	SNP	G	TCGA-5P-A9K6-01A-11D-A42J-10		22160189	29144377	50	2571											
C22orf30	253143	hgsc.bcm.edu	37	22	32108919	32108919	+	Silent	SNP	T	T	G			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chr22:32108919T>G	ENST00000327423.6	-	4	5095	c.4906A>C	c.(4906-4908)Aga>Cga	p.R1636R	PRR14L_ENST00000434485.1_Silent_p.R1636R|PRR14L_ENST00000397493.2_Silent_p.R1636R	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1636										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CGTCGGTATCTTAGCTTCTGA	0.468											OREG0003533	type=REGULATORY REGION|Gene=BC040859|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													34	27	29					22																	32108919		692	1591	2283	SO:0001819	synonymous_variant	253143			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.4906A>C	chr22.hg19:g.32108919T>G		829	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Silent	SNP	ENST00000327423.6	hg19	CCDS13900.2																																																																																				0.468	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		G	32108919	T	G	32108919	2	3	35	1	0	0	0	0	0	0	0	1	2144	1617	56	5		5	C22orf30	22	32108919	Silent	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10	9948730	32108919	19195647	51	2572											
CXorf23	256643	hgsc.bcm.edu	37	X	19973668	19973668	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chrX:19973668A>C	ENST00000379682.4	-	4	1324	c.1291T>G	c.(1291-1293)Tcc>Gcc	p.S431A	CXorf23_ENST00000379687.3_Missense_Mutation_p.S431A|CXorf23_ENST00000356980.3_Missense_Mutation_p.S431A			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	431						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CTCTCTGTGGAATAGCTAGAA	0.333																																																0													97	86	90					X																	19973668		2203	4300	6503	SO:0001583	missense	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1291T>G	chrX.hg19:g.19973668A>C	ENSP00000369004:p.Ser431Ala		A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.73|10.73	1.433061|1.433061	0.25813|0.25813	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000340625|ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	.|T;T;T	.|0.12774	.|2.65;2.65;2.65	5.05|5.05	3.87|3.87	0.44632|0.44632	.|.	.|.	.|.	.|.	.|.	T|T	0.07638|0.07638	0.0192|0.0192	N|N	0.17800|0.17800	0.525|0.525	0.26427|0.26427	N|N	0.976006|0.976006	.|B;B	.|0.23377	.|0.017;0.084	.|B;B	.|0.18561	.|0.011;0.022	T|T	0.39078|0.39078	-0.9631|-0.9631	5|8	.|.	.|.	.|.	.|.	4.3281|4.3281	0.11050|0.11050	0.6669:0.0:0.0972:0.2358|0.6669:0.0:0.0972:0.2358	.|.	.|431;431	.|A2AJT9-2;A2AJT9	.|.;CX023_HUMAN	C|A	39|431;431;431;319	.|ENSP00000369009:S431A;ENSP00000369004:S431A;ENSP00000349470:S431A	.|.	F|S	-|-	2|1	0|0	CXorf23|CXorf23	19883589|19883589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.551000|1.551000	0.36233|0.36233	0.578000|0.578000	0.29487|0.29487	0.486000|0.486000	0.48141|0.48141	TTC|TCC		0.333	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		C	19973668	A	C	19973668	3	2	35	1	0	0	0	0	1	0	0	0	4105	246	9	5	789	5	CXorf23	23	19973668	Missense_Mutation	SNP	A	TCGA-5P-A9K6-01A-11D-A42J-10		19973668	135296892	52	2573											
HTATSF1	27336	hgsc.bcm.edu	37	X	135593689	135593689	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9K6-01A-11D-A42J-10	TCGA-5P-A9K6-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f41aab4-303b-428a-ac0c-df760be57c3e	22f09e94-5687-4bdb-bf4b-f54d47a940ea	g.chrX:135593689T>G	ENST00000218364.4	+	9	1959	c.1785T>G	c.(1783-1785)aaT>aaG	p.N595K	HTATSF1_ENST00000535601.1_Missense_Mutation_p.N595K	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	595	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAGAAGAAAATGACTCTGAAA	0.383																																																0													55	60	59					X																	135593689		2201	4298	6499	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1785T>G	chrX.hg19:g.135593689T>G	ENSP00000218364:p.Asn595Lys		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	hg19	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	T	4.431	0.079832	0.08533	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04049	3.72;3.72	3.82	2.65	0.31530	.	0.148955	0.31589	N	0.007382	T	0.03011	0.0089	N	0.19112	0.55	0.09310	N	1	B	0.33694	0.421	B	0.27500	0.08	T	0.41875	-0.9484	10	0.87932	D	0	-11.1441	6.7729	0.23604	0.0:0.1179:0.0:0.8821	.	595	O43719	HTSF1_HUMAN	K	595	ENSP00000442699:N595K;ENSP00000218364:N595K	ENSP00000218364:N595K	N	+	3	2	HTATSF1	135421355	0.295000	0.24389	0.047000	0.18901	0.018000	0.09664	1.393000	0.34497	0.653000	0.30826	0.425000	0.28330	AAT		0.383	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		G	135593689	T	G	135593689	3	3	35	1	0	0	0	0	1	0	0	0	7435	1461	51	5	1819	5	HTATSF1	23	135593689	Missense_Mutation	SNP	T	TCGA-5P-A9K6-01A-11D-A42J-10	115620021	135593689	19676871	53	2574											
TXNIP	10628	hgsc.bcm.edu	37	1	145440061	145440064	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr1:145440061_145440064delAAAG	ENST00000369317.4	+	4	829_832	c.495_498delAAAG	c.(493-498)gaaaagfs	p.EK165fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	165					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.K166R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTAAAAAAGAAAAGAAAGTTTCCT	0.417																																																1	Substitution - Missense(1)	ovary(1)																																								SO:0001589	frameshift_variant	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.495_498delAAAG	chr1.hg19:g.145440065_145440068delAAAG	ENSP00000358323:p.Glu165fs		B4E3D3|Q16226|Q6PML0|Q9BXG9	Frame_Shift_Del	DEL	ENST00000369317.4	hg19	CCDS913.1																																																																																				0.417	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		-	145440064	AAAG	-	145440061	7	5	36	1	0	1	0	1	0	0	0	0	16808	11	1	0	509	0	TXNIP	1	145440061	Frame_Shift_Del	DEL	AAAG	TCGA-5P-A9K8-01A-11D-A42J-10		145440061	103810560	1	2575											
C1orf9	51430	hgsc.bcm.edu	37	1	172558934	172558934	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr1:172558934G>T	ENST00000263688.3	+	18	2912	c.2693G>T	c.(2692-2694)gGa>gTa	p.G898V	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Missense_Mutation_p.G1050V|SUCO_ENST00000367723.4_Missense_Mutation_p.G1049V	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	898					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ACAGATCTAGGATATGCTAAT	0.358																																																0													89	94	92					1																	172558934		2201	4294	6495	SO:0001583	missense	51430			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2693G>T	chr1.hg19:g.172558934G>T	ENSP00000263688:p.Gly898Val		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	hg19	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181241	0.57800	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.5	4.56	0.56223	.	0.049394	0.85682	N	0.000000	T	0.72399	0.3455	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.77593	-0.2530	9	0.72032	D	0.01	-8.9083	14.1563	0.65419	0.0:0.0:0.8488:0.1512	.	898;1050;898	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	V	1050;898	.	ENSP00000263688:G898V	G	+	2	0	C1orf9	170825557	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.123000	0.64703	1.265000	0.44215	0.655000	0.94253	GGA		0.358	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		T	172558934	G	T	172558934	3	4	36	1	0	0	0	0	1	0	0	0	2069	1174	41	4	2763	4	C1orf9	1	172558934	Missense_Mutation	SNP	G	TCGA-5P-A9K8-01A-11D-A42J-10	27118873	172558934	76691687	2	2576											
MTR	4548	hgsc.bcm.edu	37	1	236959019	236959019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr1:236959019C>T	ENST00000366577.5	+	1	410	c.16C>T	c.(16-18)Caa>Taa	p.Q6*	MTR_ENST00000418145.2_Silent_p.S133S|MTR_ENST00000535889.1_Nonsense_Mutation_p.Q6*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	6					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACCCGCGCTCCAAGACCTGTC	0.632																																																0													100	77	85					1																	236959019		2203	4300	6503	SO:0001587	stop_gained	4548			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.16C>T	chr1.hg19:g.236959019C>T	ENSP00000355536:p.Gln6*		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Nonsense_Mutation	SNP	ENST00000366577.5	hg19	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	42	9.187394	0.99094	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	.	.	.	3.06	1.09	0.20402	.	2.563360	0.01436	N	0.014912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	25.1223	5.645	0.17584	0.2278:0.5511:0.221:0.0	.	.	.	.	X	6	.	ENSP00000355536:Q6X	Q	+	1	0	MTR	235025642	0.004000	0.15560	0.001000	0.08648	0.975000	0.68041	1.050000	0.30404	0.290000	0.22444	-0.340000	0.08031	CAA		0.632	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		T	236959019	C	T	236959019	4	4	36	1	0	0	0	0	0	1	0	0	9960	595	21	2	18	2	MTR	1	236959019	Nonsense_Mutation	SNP	C	TCGA-5P-A9K8-01A-11D-A42J-10	64400085	236959019	12291602	3	2577											
TLR3	7098	hgsc.bcm.edu	37	4	187006026	187006026	+	Silent	SNP	A	A	G			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr4:187006026A>G	ENST00000296795.3	+	5	2818	c.2714A>G	c.(2713-2715)tAa>tGa	p.*905*	TLR3_ENST00000504367.1_Silent_p.*628*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	0					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCTGTACATTAAATTTATTTA	0.308																																																0													29	32	31					4																	187006026		2196	4298	6494	SO:0001819	synonymous_variant	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2714A>G	chr4.hg19:g.187006026A>G			B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	hg19	CCDS3846.1																																																																																				0.308	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			G	187006026	A	G	187006026	2	3	36	1	0	0	0	0	0	0	0	1	15957	369	13	3		3	TLR3	4	187006026	Silent	SNP	A	TCGA-5P-A9K8-01A-11D-A42J-10		187006026	4148250	4	2578											
DNAH5	1767	hgsc.bcm.edu	37	5	13794140	13794140	+	Nonsense_Mutation	SNP	G	G	A	rs375053470		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr5:13794140G>A	ENST00000265104.4	-	48	8019	c.7915C>T	c.(7915-7917)Cga>Tga	p.R2639*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2639	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTACCCATTCGTTTATCCACA	0.368									Kartagener syndrome																																							0			GRCh37	CI065821|CM020273	DNAH5	I|M		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	103	98	100		7915	5.9	1	5		100	0,8600		0,0,4300	no	stop-gained	DNAH5	NM_001369.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2639/4625	13794140	1,13005	2203	4300	6503	SO:0001587	stop_gained	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7915C>T	chr5.hg19:g.13794140G>A	ENSP00000265104:p.Arg2639*		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	g	50	16.923105	0.99875	2.27E-4	0.0	ENSG00000039139	ENST00000265104	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	.	.	.	X	2639	.	ENSP00000265104:R2639X	R	-	1	2	DNAH5	13847140	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.593000	0.54001	2.792000	0.96026	0.557000	0.71058	CGA		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13794140	G	A	13794140	4	1	36	1	0	0	0	0	0	1	0	0	4606	1153	40	1	6087	1	DNAH5	5	13794140	Nonsense_Mutation	SNP	G	TCGA-5P-A9K8-01A-11D-A42J-10		13794140	167121120	5	2579											
HIST1H2BG	8339	hgsc.bcm.edu	37	6	26216532	26216532	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr6:26216532C>G	ENST00000244601.3	-	1	340	c.340G>C	c.(340-342)Gaa>Caa	p.E114Q	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	114					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTGGTACCTTCGGACACTGCG	0.532																																																0													97	97	97					6																	26216532		2203	4300	6503	SO:0001583	missense	8339			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.340G>C	chr6.hg19:g.26216532C>G	ENSP00000244601:p.Glu114Gln		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	hg19	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	13.36	2.215310	0.39102	.	.	ENSG00000187990	ENST00000244601	T	0.48836	0.8	3.89	3.89	0.44902	.	0.000000	0.33457	U	0.004887	T	0.54581	0.1867	.	.	.	0.37512	D	0.91718	.	.	.	.	.	.	T	0.62695	-0.6800	7	0.72032	D	0.01	.	15.3699	0.74554	0.0:1.0:0.0:0.0	.	.	.	.	Q	114	ENSP00000244601:E114Q	ENSP00000244601:E114Q	E	-	1	0	HIST1H2BG	26324511	1.000000	0.71417	0.999000	0.59377	0.102000	0.19082	7.499000	0.81566	2.172000	0.68678	0.561000	0.74099	GAA		0.532	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		G	26216532	C	G	26216532	3	3	36	1	0	0	0	0	1	0	0	0	7148	893	31	4	44	4	HIST1H2BG	6	26216532	Missense_Mutation	SNP	C	TCGA-5P-A9K8-01A-11D-A42J-10		26216532	144898535	6	2580											
DEFB110	245913	hgsc.bcm.edu	37	6	49986773	49986773	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr6:49986773G>T	ENST00000371148.2	-	2	166	c.121C>A	c.(121-123)Caa>Aaa	p.Q41K	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	41					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TTTTTACATTGACCATTACCT	0.388																																																0													186	163	171					6																	49986773		2203	4300	6503	SO:0001583	missense	245913			DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"Defensins, beta"	18091	protein-coding gene	gene with protein product			"defensin, beta 110"			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.121C>A	chr6.hg19:g.49986773G>T	ENSP00000360190:p.Gln41Lys		Q30KR0	Missense_Mutation	SNP	ENST00000371148.2	hg19	CCDS34475.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.456084	0.01071	.	.	ENSG00000203970	ENST00000371148	T	0.10382	2.88	4.77	2.84	0.33178	.	1.041720	0.07626	N	0.927868	T	0.02047	0.0064	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.45190	-0.9278	8	.	.	.	0.3027	7.7772	0.29043	0.0:0.1777:0.6386:0.1837	.	41	Q30KQ9	DB110_HUMAN	K	41	ENSP00000360190:Q41K	.	Q	-	1	0	DEFB110	50094732	0.473000	0.25878	0.887000	0.34795	0.012000	0.07955	1.013000	0.29937	1.191000	0.43056	0.655000	0.94253	CAA		0.388	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		T	49986773	G	T	49986773	3	4	36	1	0	0	0	0	1	0	0	0	4402	1299	45	4	222	4	DEFB110	6	49986773	Missense_Mutation	SNP	G	TCGA-5P-A9K8-01A-11D-A42J-10	23770241	49986773	121128294	7	2581											
PNLDC1	154197	hgsc.bcm.edu	37	6	160239629	160239629	+	Silent	SNP	C	C	T	rs146349877		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr6:160239629C>T	ENST00000610273.1	+	16	1338	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	PNLDC1_ENST00000392167.3_Silent_p.D400D	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	389						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGTACCTTGACGTGCTGGCTC	0.562																																																0								C		0,4406		0,0,2203	90	83	86		1167	-8.8	0.8	6	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PNLDC1	NM_173516.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		389/521	160239629	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	154197			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1167C>T	chr6.hg19:g.160239629C>T			Q5TAP7|Q8N7X5	Silent	SNP	ENST00000610273.1	hg19	CCDS5271.1																																																																																				0.562	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		T	160239629	C	T	160239629	2	4	36	1	0	0	0	0	0	0	0	1	12150	535	19	1		1	PNLDC1	6	160239629	Silent	SNP	C	TCGA-5P-A9K8-01A-11D-A42J-10	110252856	160239629	10875438	8	2582											
DRD2	1813	hgsc.bcm.edu	37	11	113295145	113295145	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr11:113295145C>T	ENST00000362072.3	-	2	573	c.229G>A	c.(229-231)Gca>Aca	p.A77T	DRD2_ENST00000538967.1_Missense_Mutation_p.A77T|DRD2_ENST00000544518.1_Missense_Mutation_p.A77T|DRD2_ENST00000346454.3_Missense_Mutation_p.A77T|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.A77T|DRD2_ENST00000355319.2_Missense_Mutation_p.A77T	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	77					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGGCCACTGCGAGGCTGACG	0.632																																																0													135	105	115					11																	113295145		2201	4296	6497	SO:0001583	missense	1813			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.229G>A	chr11.hg19:g.113295145C>T	ENSP00000354859:p.Ala77Thr		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	hg19	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	36	5.614408	0.96649	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	H	0.99758	4.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.92664	0.6144	10	0.87932	D	0	.	18.9437	0.92613	0.0:1.0:0.0:0.0	.	77;77;77;77	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	T	77	ENSP00000347474:A77T;ENSP00000278597:A77T;ENSP00000354859:A77T;ENSP00000441068:A77T;ENSP00000442172:A77T;ENSP00000438215:A77T;ENSP00000438419:A77T	ENSP00000278597:A77T	A	-	1	0	DRD2	112800355	1.000000	0.71417	0.517000	0.27799	0.991000	0.79684	7.758000	0.85224	2.469000	0.83416	0.561000	0.74099	GCA		0.632	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		T	113295145	C	T	113295145	3	4	36	1	0	0	0	0	1	0	0	0	4759	768	27	1	1130	1	DRD2	11	113295145	Missense_Mutation	SNP	C	TCGA-5P-A9K8-01A-11D-A42J-10		113295145	21711371	9	2583											
SARNP	84324	hgsc.bcm.edu	37	12	56182870	56182870	+	Missense_Mutation	SNP	T	T	C	rs138765992		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr12:56182870T>C	ENST00000336133.3	-	9	544	c.490A>G	c.(490-492)Atc>Gtc	p.I164V	SARNP_ENST00000552080.1_Missense_Mutation_p.I164V|SARNP_ENST00000444631.2_Missense_Mutation_p.I104V|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.N476S	NM_033082.3	NP_149073.1	P82979	SARNP_HUMAN	SAP domain containing ribonucleoprotein	164					mRNA export from nucleus (GO:0006406)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						TTTCTGGAGATTGAAGAGACA	0.368																																																0								T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	113	103	106		490	3.9	1	12	dbSNP_134	106	0,8600		0,0,4300	no	missense	SARNP	NM_033082.3	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	164/211	56182870	1,13005	2203	4300	6503	SO:0001583	missense	84324			AJ409089	CCDS8892.1	12q13.2	2009-07-09				ENSG00000205323			24432	protein-coding gene	gene with protein product	"hepatocellular carcinoma 1", "cytokine induced protein 29 kDa"	610049				11356193, 11922608	Standard	NM_033082		Approved	THO1, Hcc-1, CIP29		P82979	OTTHUMG00000170441	ENST00000336133.3:c.490A>G	chr12.hg19:g.56182870T>C	ENSP00000337632:p.Ile164Val		A8K393|Q9P066	Missense_Mutation	SNP	ENST00000336133.3	hg19	CCDS8892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.508|1.508	-0.550269|-0.550269	0.03996|0.03996	2.27E-4|2.27E-4	0.0|0.0	ENSG00000205323|ENSG00000257390	ENST00000444631;ENST00000336133;ENST00000552080|ENST00000546837	.|.	.|.	.|.	4.99|4.99	3.87|3.87	0.44632|0.44632	.|.	0.308918|.	0.37304|.	N|.	0.002142|.	T|T	0.11367|0.11367	0.0277|0.0277	N|N	0.01242|0.01242	-0.935|-0.935	0.30568|0.30568	N|N	0.763848|0.763848	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.12837|0.12837	-1.0532|-1.0532	9|5	0.02654|.	T|.	1|.	-16.7878|-16.7878	6.8802|6.8802	0.24168|0.24168	0.0:0.1004:0.0:0.8996|0.0:0.1004:0.0:0.8996	.|.	164|.	P82979|.	SARNP_HUMAN|.	V|S	104;164;164|476	.|.	ENSP00000337632:I164V|.	I|N	-|-	1|2	0|0	SARNP|RP11-762I7.5	54469137|54469137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.389000|1.389000	0.34453|0.34453	2.234000|2.234000	0.73211|0.73211	0.460000|0.460000	0.39030|0.39030	ATC|AAT		0.368	SARNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409159.2	NM_033082		C	56182870	T	C	56182870	3	2	36	1	0	0	0	0	1	0	0	0	13849	1493	52	3	154	3	SARNP	12	56182870	Missense_Mutation	SNP	T	TCGA-5P-A9K8-01A-11D-A42J-10		56182870	77669025	10	2584											
NAV3	89795	hgsc.bcm.edu	37	12	78516053	78516053	+	Silent	SNP	G	G	A			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr12:78516053G>A	ENST00000397909.2	+	16	4256	c.4083G>A	c.(4081-4083)ccG>ccA	p.P1361P	NAV3_ENST00000536525.2_Silent_p.P1361P|NAV3_ENST00000228327.6_Silent_p.P1361P|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1361	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGATACTCCGAGCTACCAGT	0.577										HNSCC(70;0.22)																																						0													109	105	106					12																	78516053		2014	4184	6198	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4083G>A	chr12.hg19:g.78516053G>A			Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	hg19																																																																																					0.577	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78516053	G	A	78516053	2	1	36	1	0	0	0	0	0	0	0	1	10187	1045	37	1		1	NAV3	12	78516053	Silent	SNP	G	TCGA-5P-A9K8-01A-11D-A42J-10	22333183	78516053	55335842	11	2585											
IL32	9235	hgsc.bcm.edu	37	16	3119278	3119278	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr16:3119278C>A	ENST00000534507.1	+	6	838	c.627C>A	c.(625-627)ttC>ttA	p.F209L	IL32_ENST00000008180.9_Missense_Mutation_p.F143L|IL32_ENST00000531965.1_Missense_Mutation_p.F153L|IL32_ENST00000548652.1_Missense_Mutation_p.F154L|IL32_ENST00000382213.3_Missense_Mutation_p.F154L|IL32_ENST00000551122.1_Intron|IL32_ENST00000525643.2_Missense_Mutation_p.F163L|IL32_ENST00000444393.3_Missense_Mutation_p.F163L|IL32_ENST00000552936.1_Missense_Mutation_p.F187L|IL32_ENST00000552664.1_Missense_Mutation_p.F163L|IL32_ENST00000533097.2_Missense_Mutation_p.F163L|IL32_ENST00000440815.3_Missense_Mutation_p.F163L|IL32_ENST00000549213.1_Intron|IL32_ENST00000526464.2_Missense_Mutation_p.F163L|IL32_ENST00000529550.1_Missense_Mutation_p.F163L|IL32_ENST00000551513.1_Missense_Mutation_p.F200L|IL32_ENST00000530538.2_Missense_Mutation_p.F163L|IL32_ENST00000530890.1_Missense_Mutation_p.F143L|IL32_ENST00000552356.1_Missense_Mutation_p.F143L|IL32_ENST00000528163.2_Missense_Mutation_p.F163L|IL32_ENST00000548476.1_Missense_Mutation_p.F209L|IL32_ENST00000529699.1_Missense_Mutation_p.F143L|IL32_ENST00000396887.3_Intron|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000325568.5_Missense_Mutation_p.F163L|IL32_ENST00000548246.1_Missense_Mutation_p.F123L|IL32_ENST00000396890.2_Missense_Mutation_p.F209L			P24001	IL32_HUMAN	interleukin 32	209					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TGTCCTCTTTCCAGTCCTACG	0.557																																																0													99	125	116					16																	3119278		2197	4300	6497	SO:0001583	missense	9235			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.627C>A	chr16.hg19:g.3119278C>A	ENSP00000431775:p.Phe209Leu		A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.24	1.581265	0.28180	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000548652;ENST00000530538;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	1.81	-3.01	0.05463	.	.	.	.	.	T	0.16214	0.0390	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.12630	0.002;0.006;0.006;0.006;0.006;0.006	B;B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.002;0.002	T	0.29792	-1.0000	9	0.02654	T	1	.	3.4077	0.07347	0.0:0.3182:0.215:0.4668	.	123;143;154;143;209;163	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2	.;.;.;.;IL32_HUMAN;.	L	163;209;153;143;163;163;163;163;209;163;143;163;163;143;209;154;163;187;209;163;143;200;154;123	ENSP00000324742:F163L;ENSP00000431775:F209L;ENSP00000433177:F153L;ENSP00000436937:F143L;ENSP00000450364:F163L;ENSP00000405063:F163L;ENSP00000437020:F163L;ENSP00000432218:F163L;ENSP00000448354:F209L;ENSP00000432850:F163L;ENSP00000433747:F143L;ENSP00000411958:F163L;ENSP00000432917:F163L;ENSP00000008180:F143L;ENSP00000380099:F209L;ENSP00000446624:F154L;ENSP00000436929:F163L;ENSP00000447033:F187L;ENSP00000449483:F209L;ENSP00000448683:F163L;ENSP00000446978:F143L;ENSP00000449147:F200L;ENSP00000371648:F154L;ENSP00000447979:F123L	ENSP00000008180:F143L	F	+	3	2	IL32	3059279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.640000	0.05440	-0.850000	0.04152	-0.320000	0.08662	TTC		0.557	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		A	3119278	C	A	3119278	3	1	36	1	0	0	0	0	1	0	0	0	7694	854	30	4	511	4	IL32	16	3119278	Missense_Mutation	SNP	C	TCGA-5P-A9K8-01A-11D-A42J-10		3119278	87235475	12	2586											
WDR59	79726	hgsc.bcm.edu	37	16	74976685	74976685	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr16:74976685T>C	ENST00000262144.6	-	7	615	c.485A>G	c.(484-486)aAc>aGc	p.N162S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	162										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGCAAGGCAGTTAGCATTTTT	0.502																																																0													90	82	85					16																	74976685		2198	4300	6498	SO:0001583	missense	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.485A>G	chr16.hg19:g.74976685T>C	ENSP00000262144:p.Asn162Ser		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	hg19	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869817	0.51588	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.70164	-0.46	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.135443	0.64402	D	0.000005	T	0.57932	0.2087	L	0.35341	1.055	0.47778	D	0.999513	B;B	0.26002	0.042;0.139	B;B	0.21917	0.033;0.037	T	0.55661	-0.8106	10	0.48119	T	0.1	-29.498	16.1099	0.81255	0.0:0.0:0.0:1.0	.	162;162	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	S	162;141	ENSP00000262144:N162S	ENSP00000262144:N162S	N	-	2	0	WDR59	73534186	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.564000	0.60830	2.285000	0.76669	0.533000	0.62120	AAC		0.502	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		C	74976685	T	C	74976685	3	2	36	1	0	0	0	0	1	0	0	0	17313	1725	60	3	2519	3	WDR59	16	74976685	Missense_Mutation	SNP	T	TCGA-5P-A9K8-01A-11D-A42J-10	71857407	74976685	15378068	13	2587											
ZNF521	25925	hgsc.bcm.edu	37	18	22805343	22805343	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr18:22805343C>T	ENST00000361524.3	-	4	2687	c.2539G>A	c.(2539-2541)Gct>Act	p.A847T	ZNF521_ENST00000538137.2_Missense_Mutation_p.A847T|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.A627T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	847					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCTCGGAAGCTCCATTTGTT	0.478			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													188	179	182					18																	22805343		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2539G>A	chr18.hg19:g.22805343C>T	ENSP00000354794:p.Ala847Thr		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	hg19	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	6.220	0.408661	0.11812	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08984	3.03;3.04	5.93	5.93	0.95920	.	0.055023	0.85682	D	0.000000	T	0.06280	0.0162	N	0.08118	0	0.38015	D	0.934651	B	0.16396	0.017	B	0.14578	0.011	T	0.47837	-0.9086	10	0.23891	T	0.37	-15.1198	20.3539	0.98825	0.0:1.0:0.0:0.0	.	847	Q96K83	ZN521_HUMAN	T	847;881;847	ENSP00000354794:A847T;ENSP00000382352:A847T	ENSP00000354794:A847T	A	-	1	0	ZNF521	21059341	0.995000	0.38212	0.498000	0.27564	0.181000	0.23173	4.541000	0.60670	2.826000	0.97356	0.655000	0.94253	GCT		0.478	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		T	22805343	C	T	22805343	3	4	36	1	0	0	0	0	1	0	0	0	17970	797	28	2	1416	2	ZNF521	18	22805343	Missense_Mutation	SNP	C	TCGA-5P-A9K8-01A-11D-A42J-10		22805343	55271905	14	2588											
ZNF814	730051	hgsc.bcm.edu	37	19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T	rs111727691		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																																0													15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	chr19.hg19:g.58385790G>T	ENSP00000410545:p.Pro323His		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	36	1	0	0	0	0	1	0	0	0	18181	1000	35	4	1603	4	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-5P-A9K8-01A-11D-A42J-10		58385790	743193	15	2589	30	2									
ZNF814	730051	hgsc.bcm.edu	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																																0													15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	chr19.hg19:g.58385793C>T	ENSP00000410545:p.Arg322Lys		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	36	1	0	0	0	0	1	0	0	0	18181	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-5P-A9K8-01A-11D-A42J-10	3	58385793	743190	16	2590	30	2									
RALGAPB	57148	hgsc.bcm.edu	37	20	37163753	37163753	+	Missense_Mutation	SNP	G	G	A	rs376931767		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr20:37163753G>A	ENST00000262879.6	+	16	2566	c.2282G>A	c.(2281-2283)cGc>cAc	p.R761H	RALGAPB_ENST00000397038.1_Missense_Mutation_p.R539H|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R757H|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R761H			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	761					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTCCTGATTCGCAGCATTCAT	0.502																																																0								G	HIS/ARG	0,4406		0,0,2203	180	174	176		2282	5.7	1	20		176	1,8599	1.2+/-3.3	0,1,4299	no	missense	RALGAPB	NM_020336.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	761/1495	37163753	1,13005	2203	4300	6503	SO:0001583	missense	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2282G>A	chr20.hg19:g.37163753G>A	ENSP00000262879:p.Arg761His		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	hg19	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000557	0.93227	0.0	1.16E-4	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.68	5.68	0.88126	.	0.047499	0.85682	D	0.000000	T	0.77778	0.4181	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.934;0.989;0.989;0.989	T	0.77983	-0.2382	9	0.62326	D	0.03	.	19.7782	0.96405	0.0:0.0:1.0:0.0	.	589;761;757;761	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	H	761;757;761;539;761;589	.	ENSP00000262879:R761H	R	+	2	0	RALGAPB	36597167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.357000	0.97099	2.668000	0.90789	0.591000	0.81541	CGC		0.502	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		A	37163753	G	A	37163753	3	1	36	1	0	0	0	0	1	0	0	0	13021	1087	38	1	2340	1	RALGAPB	20	37163753	Missense_Mutation	SNP	G	TCGA-5P-A9K8-01A-11D-A42J-10		37163753	25861767	17	2591											
CCT8L2	150160	hgsc.bcm.edu	37	22	17072976	17072976	+	Silent	SNP	C	C	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr22:17072976C>T	ENST00000359963.3	-	1	724	c.465G>A	c.(463-465)ctG>ctA	p.L155L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	155					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCAAAGGCCCCAGAGATTGGA	0.647																																																0													53	52	52					22																	17072976		2203	4300	6503	SO:0001819	synonymous_variant	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.465G>A	chr22.hg19:g.17072976C>T			A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	hg19	CCDS13738.1																																																																																				0.647	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17072976	C	T	17072976	2	4	36	1	0	0	0	0	0	0	0	1	2963	581	21	2		2	CCT8L2	22	17072976	Silent	SNP	C	TCGA-5P-A9K8-01A-11D-A42J-10		17072976	34231590	18	2592											
PANX2	56666	hgsc.bcm.edu	37	22	50615492	50615492	+	Silent	SNP	G	G	A			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr22:50615492G>A	ENST00000395842.2	+	2	351	c.351G>A	c.(349-351)tcG>tcA	p.S117S	PANX2_ENST00000159647.5_Silent_p.S117S	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	117					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGTGGCCGTCGCTGTTTGAGC	0.701																																																0													31	26	28					22																	50615492		2195	4292	6487	SO:0001819	synonymous_variant	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.351G>A	chr22.hg19:g.50615492G>A			B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	hg19	CCDS14085.2																																																																																				0.701	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		A	50615492	G	A	50615492	2	1	36	1	0	0	0	0	0	0	0	1	11423	1074	38	1		1	PANX2	22	50615492	Silent	SNP	G	TCGA-5P-A9K8-01A-11D-A42J-10	33542516	50615492	689074	19	2593											
TEX11	56159	hgsc.bcm.edu	37	X	70099888	70099888	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chrX:70099888C>T	ENST00000395889.2	-	4	309	c.154G>A	c.(154-156)Gac>Aac	p.D52N	TEX11_ENST00000374333.2_Missense_Mutation_p.D37N|TEX11_ENST00000344304.3_Missense_Mutation_p.D52N	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	52					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TTTGCTATGTCGCTGAAGAGT	0.333																																																0													144	116	125					X																	70099888		2203	4299	6502	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.154G>A	chrX.hg19:g.70099888C>T	ENSP00000379226:p.Asp52Asn		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	hg19	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053862	0.08291	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.32272	1.46;1.46;1.46	5.2	2.38	0.29361	.	0.554058	0.17534	N	0.170796	T	0.14227	0.0344	L	0.27053	0.805	0.09310	N	1	P;B	0.36125	0.538;0.403	B;B	0.24155	0.051;0.023	T	0.15009	-1.0452	9	.	.	.	-1.3832	4.1683	0.10317	0.0:0.5942:0.1888:0.2169	.	37;52	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	N	37;52;52	ENSP00000363453:D37N;ENSP00000379226:D52N;ENSP00000340995:D52N	.	D	-	1	0	TEX11	70016613	0.015000	0.18098	0.001000	0.08648	0.196000	0.23810	0.769000	0.26604	0.178000	0.19917	0.594000	0.82650	GAC		0.333	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			T	70099888	C	T	70099888	3	4	36	1	0	0	0	0	1	0	0	0	15779	884	31	1	2780	1	TEX11	23	70099888	Missense_Mutation	SNP	C	TCGA-5P-A9K8-01A-11D-A42J-10		70099888	85170672	20	2594											
PRAMEF18	391003	hgsc.bcm.edu	37	1	13475225	13475225	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr1:13475225delA	ENST00000376126.2	-	3	903	c.904delT	c.(904-906)tatfs	p.Y302fs		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	302					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)		AGGGAGCCATAAGTTAATGCC	0.493																																																0													3	4	4					1																	13475225		1676	3663	5339	SO:0001589	frameshift_variant	645414					1p36.21	2013-01-17			ENSG00000204491			"-"	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.904delT	chr1.hg19:g.13475225delA	ENSP00000365294:p.Tyr302fs			Frame_Shift_Del	DEL	ENST00000376126.2	hg19	CCDS41258.1																																																																																				0.493	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2	NM_001099850		-	13475225	A	-	13475225	7	5	37	1	0	1	0	1	0	0	0	0	12438	362	13	0	539	0	PRAMEF18	1	13475225	Frame_Shift_Del	DEL	A	TCGA-5P-A9KA-01A-11D-A42J-10		13475225	235775396	1	2595											
PRAMEF18	645414	hgsc.bcm.edu	37	1	13696061	13696061	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr1:13696061delA	ENST00000376101.2	-	3	696	c.697delT	c.(697-699)tatfs	p.Y233fs	PRAMEF19_ENST00000540591.1_Frame_Shift_Del_p.Y302fs			Q5SWL8	PRA19_HUMAN	PRAME family member 19	233					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(3)	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)		AGGGAGCCATAAGTTAATGCC	0.493																																																0													2	2	2					1																	13696061		1123	2538	3661	SO:0001589	frameshift_variant	645414					1p36.21	2013-01-17			ENSG00000204480	ENSG00000204480		"-"	24908	protein-coding gene	gene with protein product							Standard	NM_001099790		Approved	OTTHUMG00000007919	uc009vnu.1	Q5SWL8	OTTHUMG00000007919	ENST00000376101.2:c.697delT	chr1.hg19:g.13696061delA	ENSP00000365269:p.Tyr233fs			Frame_Shift_Del	DEL	ENST00000376101.2	hg19																																																																																					0.493	PRAMEF19-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000021794.2	NM_001099790		-	13696061	A	-	13696061	7	5	37	1	0	1	0	1	0	0	0	0	12438	362	13	0	1991	0	PRAMEF18	1	13696061	Frame_Shift_Del	DEL	A	TCGA-5P-A9KA-01A-11D-A42J-10	220836	13696061	235554560	2	2596											
PRDM2	7799	hgsc.bcm.edu	37	1	14105118	14105118	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr1:14105118G>T	ENST00000235372.7	+	8	1684	c.828G>T	c.(826-828)gaG>gaT	p.E276D	PRDM2_ENST00000343137.4_Missense_Mutation_p.E75D|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.E75D|PRDM2_ENST00000311066.5_Missense_Mutation_p.E276D|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	276	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		aagaggaggaggatgaagaag	0.507																																																0													53	54	54					1																	14105118		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.828G>T	chr1.hg19:g.14105118G>T	ENSP00000235372:p.Glu276Asp		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	2.186	-0.386540	0.04966	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137;ENST00000407521	T;T;T;T	0.01871	4.71;4.59;4.59;4.59	3.35	-4.1	0.03940	.	0.206931	0.16085	U	0.230348	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.44620	-0.9316	10	0.25106	T	0.35	.	0.6861	0.00883	0.2164:0.1476:0.3377:0.2984	.	134;276;276	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	D	276;276;276;75;75;75	ENSP00000235372:E276D;ENSP00000312352:E276D;ENSP00000411103:E75D;ENSP00000341621:E75D	ENSP00000235372:E276D	E	+	3	2	PRDM2	13977705	0.000000	0.05858	0.076000	0.20297	0.107000	0.19398	-2.098000	0.01347	-0.616000	0.05671	-0.226000	0.12346	GAG		0.507	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		T	14105118	G	T	14105118	3	4	37	1	0	0	0	0	1	0	0	0	12463	991	35	4	854	4	PRDM2	1	14105118	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	409057	14105118	235145503	3	2597	31	2									
PRDM2	7799	hgsc.bcm.edu	37	1	14105121	14105121	+	Missense_Mutation	SNP	T	T	A	rs199679022		TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr1:14105121T>A	ENST00000235372.7	+	8	1687	c.831T>A	c.(829-831)gaT>gaA	p.D277E	PRDM2_ENST00000343137.4_Missense_Mutation_p.D76E|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.D76E|PRDM2_ENST00000311066.5_Missense_Mutation_p.D277E|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	277	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		aggaggaggatgaagaagaag	0.498																																																0													55	56	56					1																	14105121		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.831T>A	chr1.hg19:g.14105121T>A	ENSP00000235372:p.Asp277Glu		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.833500	0.00069	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137;ENST00000407521	T;T;T;T	0.01495	4.93;4.83;4.85;4.85	2.72	0.517	0.17025	.	1.614850	0.05616	N	0.579053	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	B;B;B;B	0.09022	0.001;0.0;0.001;0.002	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.43637	-0.9379	10	0.02654	T	1	.	3.8016	0.08760	0.1568:0.0:0.5983:0.245	.	277;135;277;277	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	E	277;277;277;76;76;76	ENSP00000235372:D277E;ENSP00000312352:D277E;ENSP00000411103:D76E;ENSP00000341621:D76E	ENSP00000235372:D277E	D	+	3	2	PRDM2	13977708	0.074000	0.21230	0.135000	0.22099	0.097000	0.18754	-1.008000	0.03663	0.237000	0.21200	-0.319000	0.08680	GAT		0.498	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		A	14105121	T	A	14105121	3	1	37	1	0	0	0	0	1	0	0	0	12463	1461	51	5	857	5	PRDM2	1	14105121	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	3	14105121	235145500	4	2598	31	2									
KIAA0467	23334	hgsc.bcm.edu	37	1	43896951	43896951	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr1:43896951C>A	ENST00000562955.1	+	33	4761	c.4761C>A	c.(4759-4761)agC>agA	p.S1587R	SZT2_ENST00000372442.1_Missense_Mutation_p.S745R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1644					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CATCTGAAAGCAGTGCTTCAT	0.532																																																0													190	196	194					1																	43896951		2203	4300	6503	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4761C>A	chr1.hg19:g.43896951C>A	ENSP00000457168:p.Ser1587Arg		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	hg19	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407481	0.42715	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	L	0.52573	1.65	0.27731	N	0.944803	D	0.89917	1.0	D	0.87578	0.998	T	0.56583	-0.7955	9	0.56958	D	0.05	.	12.4908	0.55899	0.0:0.9231:0.0:0.0769	.	1587	Q5T011-5	.	R	745	.	ENSP00000361519:S745R	S	+	3	2	SZT2	43669538	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.696000	0.47052	2.595000	0.87683	0.563000	0.77884	AGC		0.532	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		A	43896951	C	A	43896951	3	1	37	1	0	0	0	0	1	0	0	0	8180	709	25	4	2301	4	KIAA0467	1	43896951	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	29791830	43896951	205353670	5	2599											
DIO1	1733	hgsc.bcm.edu	37	1	54371929	54371929	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr1:54371929A>G	ENST00000361921.3	+	3	667	c.643A>G	c.(643-645)Agg>Ggg	p.R215G	DIO1_ENST00000524406.1_Missense_Mutation_p.R86G|DIO1_ENST00000322679.6_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.R151G|DIO1_ENST00000388876.3_Missense_Mutation_p.R167G|DIO1_ENST00000532493.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	215					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						ACTGCCTGAGAGGCTCTACAT	0.642																																																0													37	34	35					1																	54371929		2203	4300	6503	SO:0001583	missense	1733				CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.643A>G	chr1.hg19:g.54371929A>G	ENSP00000354643:p.Arg215Gly		Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	hg19	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710682	0.68730	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000525202;ENST00000524406;ENST00000388876	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	4.94	2.35	0.29111	Thioredoxin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.71929	0.3398	M	0.91459	3.21	0.35969	D	0.835158	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.989;0.997	T	0.81357	-0.0969	9	.	.	.	.	11.6333	0.51189	0.7221:0.2779:0.0:0.0	.	215;151;167	P49895;P49895-2;P49895-4	IOD1_HUMAN;.;.	G	172;215;151;86;167	ENSP00000432797:R172G;ENSP00000354643:R215G;ENSP00000435725:R151G;ENSP00000434152:R86G;ENSP00000373528:R167G	.	R	+	1	2	DIO1	54144517	1.000000	0.71417	0.983000	0.44433	0.963000	0.63663	1.113000	0.31184	0.794000	0.33899	0.459000	0.35465	AGG		0.642	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			G	54371929	A	G	54371929	3	3	37	1	0	0	0	0	1	0	0	0	4526	295	11	3	653	3	DIO1	1	54371929	Missense_Mutation	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10	10474978	54371929	194878692	6	2600											
PLA2G4A	5321	hgsc.bcm.edu	37	1	186880403	186880403	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr1:186880403G>A	ENST00000367466.3	+	7	592	c.440G>A	c.(439-441)aGt>aAt	p.S147N	PLA2G4A_ENST00000442353.2_Intron|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	147	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	CTACGATTTAGTATGGCTCTG	0.448																																																0													162	167	165					1																	186880403		2203	4300	6503	SO:0001583	missense	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.440G>A	chr1.hg19:g.186880403G>A	ENSP00000356436:p.Ser147Asn		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	hg19	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654167	0.47362	.	.	ENSG00000116711	ENST00000367466	T	0.04706	3.57	5.24	5.24	0.73138	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	L	0.53561	1.675	0.80722	D	1	B	0.21821	0.061	B	0.19148	0.024	T	0.30937	-0.9961	10	0.16420	T	0.52	-18.437	16.3228	0.82958	0.0:0.0:1.0:0.0	.	147	P47712	PA24A_HUMAN	N	147	ENSP00000356436:S147N	ENSP00000356436:S147N	S	+	2	0	PLA2G4A	185147026	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	5.534000	0.67167	2.437000	0.82529	0.650000	0.86243	AGT		0.448	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		A	186880403	G	A	186880403	3	1	37	1	0	0	0	0	1	0	0	0	12003	1029	36	2	462	2	PLA2G4A	1	186880403	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	132508474	186880403	62370218	7	2601											
PPP2R5A	5525	hgsc.bcm.edu	37	1	212534084	212534084	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr1:212534084G>C	ENST00000261461.2	+	13	2007	c.1433G>C	c.(1432-1434)aGt>aCt	p.S478T	RP11-384C4.2_ENST00000447949.1_RNA|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.S421T	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	478					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AACATGCACAGTATTCTCAGC	0.343																																																0													66	71	70					1																	212534084		2203	4300	6503	SO:0001583	missense	5525			BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.1433G>C	chr1.hg19:g.212534084G>C	ENSP00000261461:p.Ser478Thr		B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	hg19	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	g	8.348	0.830290	0.16749	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.74	3.63	0.41609	.	0.809925	0.12040	N	0.505128	T	0.14874	0.0359	N	0.08118	0	0.23813	N	0.996775	B;B	0.09022	0.002;0.002	B;B	0.12156	0.004;0.007	T	0.26710	-1.0095	9	0.13853	T	0.58	-12.4512	1.8913	0.03249	0.258:0.0:0.4334:0.3086	.	421;478	B7Z7L2;Q15172	.;2A5A_HUMAN	T	478;478;421	.	ENSP00000261461:S478T	S	+	2	0	PPP2R5A	210600707	1.000000	0.71417	0.991000	0.47740	0.255000	0.26057	1.499000	0.35671	1.408000	0.46895	0.651000	0.88453	AGT		0.343	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		C	212534084	G	C	212534084	3	2	37	1	0	0	0	0	1	0	0	0	12397	1029	36	4	1483	4	PPP2R5A	1	212534084	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	25653681	212534084	36716537	8	2602											
PGBD2	267002	hgsc.bcm.edu	37	1	249210858	249210858	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr1:249210858G>T	ENST00000329291.5	+	3	222	c.75G>T	c.(73-75)gaG>gaT	p.E25D	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.E22D|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	25										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGCTGCTTGAGGTTCTGAATG	0.483																																																0													81	79	80					1																	249210858		2203	4300	6503	SO:0001583	missense	267002			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.75G>T	chr1.hg19:g.249210858G>T	ENSP00000331643:p.Glu25Asp		B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	hg19	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201001	0.58234	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.12465	2.68;2.68	4.08	3.16	0.36331	.	0.241764	0.20985	U	0.082152	T	0.12263	0.0298	L	0.47716	1.5	0.24031	N	0.996119	P;P	0.50528	0.936;0.895	P;B	0.44477	0.451;0.264	T	0.13202	-1.0518	10	0.25106	T	0.35	-3.497	7.0352	0.24989	0.1209:0.0:0.8791:0.0	.	22;25	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	D	25;22	ENSP00000331643:E25D;ENSP00000439950:E22D	ENSP00000331643:E25D	E	+	3	2	PGBD2	247177481	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	0.537000	0.23144	2.272000	0.75746	0.655000	0.94253	GAG		0.483	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			T	249210858	G	T	249210858	3	4	37	1	0	0	0	0	1	0	0	0	11783	991	35	4	81	4	PGBD2	1	249210858	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	36676774	249210858	39763	9	2603											
ZDBF2	57683	hgsc.bcm.edu	37	2	207170563	207170563	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr2:207170563T>G	ENST00000374423.3	+	5	1697	c.1311T>G	c.(1309-1311)gaT>gaG	p.D437E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	437							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TACGTACTGATGTACAGTATA	0.338																																																0													70	68	69					2																	207170563		1844	4091	5935	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1311T>G	chr2.hg19:g.207170563T>G	ENSP00000363545:p.Asp437Glu		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	hg19	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.328042	0.24080	.	.	ENSG00000204186	ENST00000374423	T	0.45668	0.89	3.89	-2.8	0.05823	.	0.201148	0.24681	N	0.036479	T	0.28632	0.0709	L	0.43152	1.355	0.09310	N	1	B	0.26876	0.162	B	0.27076	0.076	T	0.17868	-1.0355	10	0.30854	T	0.27	.	9.0122	0.36148	0.0:0.5221:0.0:0.4779	.	437	Q9HCK1	ZDBF2_HUMAN	E	437	ENSP00000363545:D437E	ENSP00000363545:D437E	D	+	3	2	ZDBF2	206878808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.004000	0.13106	-0.539000	0.06273	-0.256000	0.11100	GAT		0.338	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		G	207170563	T	G	207170563	3	3	37	1	0	0	0	0	1	0	0	0	17604	1461	51	5	1321	5	ZDBF2	2	207170563	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10		207170563	36028810	10	2604											
FAM134A	79137	hgsc.bcm.edu	37	2	220044862	220044862	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr2:220044862C>G	ENST00000430297.2	+	4	586	c.450C>G	c.(448-450)caC>caG	p.H150Q	CNPPD1_ENST00000409789.1_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	150						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGGCCGCACCTGCTGAGTG	0.592																																																0													75	76	76					2																	220044862		2203	4300	6503	SO:0001583	missense	79137			AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.450C>G	chr2.hg19:g.220044862C>G	ENSP00000395249:p.His150Gln		Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	hg19	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026015	0.54683	.	.	ENSG00000144567	ENST00000430297	T	0.39997	1.05	4.53	4.53	0.55603	.	0.167420	0.56097	D	0.000032	T	0.41073	0.1143	N	0.22421	0.69	0.35553	D	0.804029	P	0.52692	0.955	P	0.54759	0.76	T	0.49952	-0.8884	10	0.39692	T	0.17	-10.4898	11.9832	0.53131	0.0:0.9169:0.0:0.0831	.	150	Q8NC44	F134A_HUMAN	Q	150	ENSP00000395249:H150Q	ENSP00000395249:H150Q	H	+	3	2	FAM134A	219753106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.267000	0.33050	2.342000	0.79632	0.561000	0.74099	CAC		0.592	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		G	220044862	C	G	220044862	3	3	37	1	0	0	0	0	1	0	0	0	5447	506	18	4	464	4	FAM134A	2	220044862	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	12874299	220044862	23154511	11	2605											
CUL3	8452	hgsc.bcm.edu	37	2	225370771	225370771	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr2:225370771T>A	ENST00000264414.4	-	8	1446	c.1108A>T	c.(1108-1110)Att>Ttt	p.I370F	CUL3_ENST00000409777.1_Missense_Mutation_p.I346F|CUL3_ENST00000344951.4_Missense_Mutation_p.I304F|CUL3_ENST00000409096.1_Missense_Mutation_p.I346F	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	370					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCACCCGCAATAGTTTGTTTA	0.383																																																0													75	73	74					2																	225370771		2203	4300	6503	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1108A>T	chr2.hg19:g.225370771T>A	ENSP00000264414:p.Ile370Phe		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	hg19	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609729	0.87258	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.63	5.63	0.86233	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76350	0.3975	M	0.71920	2.185	0.80722	D	1	P;B;P	0.45986	0.87;0.372;0.717	B;B;B	0.43301	0.291;0.415;0.415	T	0.79492	-0.1781	10	0.54805	T	0.06	.	16.1413	0.81528	0.0:0.0:0.0:1.0	.	304;348;370	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	F	370;304;346;346	ENSP00000264414:I370F;ENSP00000343601:I304F;ENSP00000387200:I346F;ENSP00000386525:I346F	ENSP00000264414:I370F	I	-	1	0	CUL3	225079015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.270000	0.75569	0.482000	0.46254	ATT		0.383	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			A	225370771	T	A	225370771	3	1	37	1	0	0	0	0	1	0	0	0	4058	1406	49	5	1234	5	CUL3	2	225370771	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	5325909	225370771	17828602	12	2606											
TRIP12	9320	hgsc.bcm.edu	37	2	230656640	230656641	+	Missense_Mutation	DNP	CT	CT	TA			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr2:230656640_230656641CT>TA	ENST00000283943.5	-	28	4309_4310	c.4131_4132AG>TA	c.(4129-4134)acAGat>acTAat	p.D1378N	TRIP12_ENST00000389045.3_Missense_Mutation_p.D1108N|TRIP12_ENST00000389044.4_Missense_Mutation_p.D1426N	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1378					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTCTCATCATCTGTGGATTCTC	0.381																																																0																																										SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4131_4132delinsTA	chr2.hg19:g.230656640_230656641delinsTA	ENSP00000283943:p.Asp1378Asn		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation|Silent	SNP	ENST00000283943.5	hg19	CCDS33391.1																																																																																				0.381	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		TA	230656641	CT	TA	230656640	3	4	37	1	0	0	0	0	1	0	0	0	16561	913	32	2	1902	2	TRIP12	2	230656640	Missense_Mutation	DNP	CT	TCGA-5P-A9KA-01A-11D-A42J-10	5285869	230656640	12542733	13	2607											
ITPR1	3708	hgsc.bcm.edu	37	3	4704871	4704871	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr3:4704871A>G	ENST00000443694.2	+	13	1490	c.1490A>G	c.(1489-1491)gAa>gGa	p.E497G	ITPR1_ENST00000423119.2_Missense_Mutation_p.E512G|ITPR1_ENST00000357086.4_Missense_Mutation_p.E512G|ITPR1_ENST00000456211.2_Missense_Mutation_p.E497G|ITPR1_ENST00000302640.8_Missense_Mutation_p.E497G|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.E512G			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	512					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGATGAGAGAACAGAATATT	0.453																																																0													112	116	115					3																	4704871		1992	4184	6176	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1490A>G	chr3.hg19:g.4704871A>G	ENSP00000401671:p.Glu497Gly		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.606397	0.87157	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	4.72	4.72	0.59763	Intracellular calcium-release channel (1);	0.098627	0.64402	D	0.000002	D	0.96018	0.8703	M	0.91459	3.21	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.80764	0.994;0.992;0.986	D	0.96933	0.9682	10	0.87932	D	0	.	14.3957	0.67010	1.0:0.0:0.0:0.0	.	497;512;512	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	G	512;497;512;512;512;497;497	ENSP00000306253:E497G;ENSP00000346595:E512G;ENSP00000405934:E512G;ENSP00000349597:E512G;ENSP00000397885:E497G;ENSP00000401671:E497G	ENSP00000306253:E497G	E	+	2	0	ITPR1	4679871	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.054000	0.93866	1.990000	0.58119	0.533000	0.62120	GAA		0.453	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		G	4704871	A	G	4704871	3	3	37	1	0	0	0	0	1	0	0	0	7922	246	9	3	1589	3	ITPR1	3	4704871	Missense_Mutation	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10		4704871	193317559	14	2608											
CAND2	23066	hgsc.bcm.edu	37	3	12856913	12856913	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr3:12856913T>A	ENST00000456430.2	+	8	1321	c.1280T>A	c.(1279-1281)cTc>cAc	p.L427H	CAND2_ENST00000295989.5_Missense_Mutation_p.L334H	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	427					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGCAGCAACCTCCATATGCTA	0.602																																					GBM(43;676 868 1633 6395 37496)											0													43	51	49					3																	12856913		2080	4201	6281	SO:0001583	missense	23066				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1280T>A	chr3.hg19:g.12856913T>A	ENSP00000387641:p.Leu427His		B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	hg19	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183403	0.57800	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	D;D	0.90620	-2.7;-2.7	4.7	2.12	0.27331	Armadillo-like helical (1);Armadillo-type fold (1);	0.184696	0.36740	N	0.002429	D	0.92893	0.7739	M	0.72894	2.215	0.80722	D	1	B;D	0.76494	0.439;0.999	B;D	0.81914	0.105;0.995	D	0.88911	0.3359	10	0.19590	T	0.45	-15.1226	9.6264	0.39752	0.0:0.0:0.3388:0.6612	.	427;334	O75155;O75155-2	CAND2_HUMAN;.	H	334;427	ENSP00000295989:L334H;ENSP00000387641:L427H	ENSP00000295989:L334H	L	+	2	0	CAND2	12831913	0.437000	0.25593	0.809000	0.32408	0.782000	0.44232	2.017000	0.40981	0.132000	0.18615	0.459000	0.35465	CTC		0.602	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		A	12856913	T	A	12856913	3	1	37	1	0	0	0	0	1	0	0	0	2618	1551	54	5	1310	5	CAND2	3	12856913	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	8152042	12856913	185165517	15	2609											
CCR9	10803	hgsc.bcm.edu	37	3	45943247	45943247	+	Silent	SNP	A	A	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr3:45943247A>C	ENST00000357632.2	+	3	1147	c.967A>C	c.(967-969)Aga>Cga	p.R323R	Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Silent_p.R311R|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.R311R|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	323					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGTGGGTGAGAGATTCCGCCG	0.517																																																0													107	100	102					3																	45943247		2203	4300	6503	SO:0001819	synonymous_variant	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.967A>C	chr3.hg19:g.45943247A>C			Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	hg19	CCDS2732.1																																																																																				0.517	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			C	45943247	A	C	45943247	2	2	37	1	0	0	0	0	0	0	0	1	2950	296	11	5		5	CCR9	3	45943247	Silent	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10	33086334	45943247	152079183	16	2610											
HYAL2	8692	hgsc.bcm.edu	37	3	50357467	50357467	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr3:50357467G>A	ENST00000447092.1	-	1	2746	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000357750.4_Missense_Mutation_p.R152C|HYAL2_ENST00000395139.3_Missense_Mutation_p.R152C|HYAL2_ENST00000442581.1_Missense_Mutation_p.R152C			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	152					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GATAACCGGCGATACACATCT	0.582																																																0													100	94	96					3																	50357467		2203	4300	6503	SO:0001583	missense	8692			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.454C>T	chr3.hg19:g.50357467G>A	ENSP00000401853:p.Arg152Cys		B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	hg19	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444411	0.83993	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.68	5.68	0.88126	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.100850	0.64402	D	0.000003	T	0.62270	0.2414	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.69217	-0.5203	10	0.87932	D	0	-33.2855	13.3441	0.60561	0.0:0.0:0.8421:0.1579	.	152;152	B3KRZ2;Q12891	.;HYAL2_HUMAN	C	152	ENSP00000401853:R152C;ENSP00000350387:R152C;ENSP00000378571:R152C;ENSP00000406657:R152C	ENSP00000350387:R152C	R	-	1	0	HYAL2	50332471	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	7.819000	0.86621	2.683000	0.91414	0.455000	0.32223	CGC		0.582	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		A	50357467	G	A	50357467	3	1	37	1	0	0	0	0	1	0	0	0	7466	1058	37	1	979	1	HYAL2	3	50357467	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	4414220	50357467	147664963	17	2611											
GPR128	84873	hgsc.bcm.edu	37	3	100354648	100354648	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr3:100354648C>G	ENST00000273352.3	+	5	843	c.575C>G	c.(574-576)aCt>aGt	p.T192S	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	192					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATATTCAACACTTCCAGAAAT	0.368																																					Pancreas(87;185 1975 7223 18722)											0													73	69	71					3																	100354648		2203	4300	6503	SO:0001583	missense	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.575C>G	chr3.hg19:g.100354648C>G	ENSP00000273352:p.Thr192Ser		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	hg19	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	4.358	0.065875	0.08388	.	.	ENSG00000144820	ENST00000273352	T	0.38401	1.14	5.65	1.34	0.21922	.	1.897240	0.02251	N	0.066623	T	0.33206	0.0855	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20974	-1.0259	10	0.07644	T	0.81	.	7.141	0.25556	0.5112:0.4042:0.0:0.0846	.	192	Q96K78	GP128_HUMAN	S	192	ENSP00000273352:T192S	ENSP00000273352:T192S	T	+	2	0	GPR128	101837338	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.307000	0.02733	0.228000	0.21019	0.591000	0.81541	ACT		0.368	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			G	100354648	C	G	100354648	3	3	37	1	0	0	0	0	1	0	0	0	6643	565	20	4	593	4	GPR128	3	100354648	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	49997181	100354648	97667782	18	2612											
KIAA1524	57650	hgsc.bcm.edu	37	3	108271221	108271221	+	Splice_Site	SNP	C	C	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr3:108271221C>A	ENST00000295746.8	-	20	2484		c.e20-1		KIAA1524_ENST00000491772.1_Splice_Site	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524						positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGATGCAAATCTTAAAAGAAA	0.303																																																0													72	69	70					3																	108271221		2195	4296	6491	SO:0001630	splice_region_variant	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2408-1G>T	chr3.hg19:g.108271221C>A			A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Splice_Site	SNP	ENST00000295746.8	hg19	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569304	0.65765	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1089	0.89528	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1524	109753911	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	4.749000	0.62155	2.244000	0.73946	0.557000	0.71058	.		0.303	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890	Intron	A	108271221	C	A	108271221	5	1	37	1	0	0	0	0	0	0	1	0	8241	927	32	4	318	4	KIAA1524	3	108271221	Splice_Site	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	7916573	108271221	89751209	19	2613											
C3orf30	152405	hgsc.bcm.edu	37	3	118865256	118865256	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr3:118865256G>C	ENST00000295622.1	+	1	260	c.220G>C	c.(220-222)Gga>Cga	p.G74R	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	74										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGCTACCAACGGAGTAGCTGA	0.502																																																0													71	55	60					3																	118865256		2203	4300	6503	SO:0001583	missense	152405			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.220G>C	chr3.hg19:g.118865256G>C	ENSP00000295622:p.Gly74Arg		A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	hg19	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.49|11.49	1.654796|1.654796	0.29425|0.29425	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150	T|.	0.22336|.	1.96|.	3.31|3.31	0.864|0.864	0.19068|0.19068	.|.	.|.	.|.	.|.	.|.	T|T	0.19366|0.19366	0.0465|0.0465	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B|.	0.33583|.	0.004;0.418|.	B;B|.	0.26969|.	0.001;0.075|.	T|T	0.24621|0.24621	-1.0155|-1.0155	9|5	0.15952|.	T|.	0.53|.	-1.8244|-1.8244	4.332|4.332	0.11067|0.11067	0.6757:0.2027:0.1216:0.0|0.6757:0.2027:0.1216:0.0	.|.	74;74|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	R|P	74|37	ENSP00000295622:G74R|.	ENSP00000295622:G74R|.	G|R	+|+	1|2	0|0	C3orf30|C3orf30	120347946|120347946	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	1.226000|1.226000	0.32563|0.32563	0.176000|0.176000	0.19873|0.19873	-0.471000|-0.471000	0.05019|0.05019	GGA|CGG		0.502	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		C	118865256	G	C	118865256	3	2	37	1	0	0	0	0	1	0	0	0	2222	1117	39	4	222	4	C3orf30	3	118865256	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	10594035	118865256	79157174	20	2614											
ITGB5	3693	hgsc.bcm.edu	37	3	124527967	124527967	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr3:124527967G>T	ENST00000296181.4	-	9	1461	c.1165C>A	c.(1165-1167)Cag>Aag	p.Q389K		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	389					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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCCTCAGGCTGATCCCAGACT	0.488																																																0													114	111	112					3																	124527967		2203	4300	6503	SO:0001583	missense	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1165C>A	chr3.hg19:g.124527967G>T	ENSP00000296181:p.Gln389Lys		B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	hg19	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.146|8.146	0.786378|0.786378	0.16189|0.16189	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000296181|ENST00000496703	T|.	0.62498|.	0.02|.	5.63|5.63	3.69|3.69	0.42338|0.42338	Integrin beta subunit, N-terminal (2);|.	0.444750|.	0.23612|.	N|.	0.046324|.	T|.	0.30885|.	0.0779|.	N|N	0.21373|0.21373	0.66|0.66	0.29615|0.29615	N|N	0.846611|0.846611	B|.	0.25351|.	0.124|.	B|.	0.27500|.	0.08|.	T|.	0.10497|.	-1.0627|.	10|.	0.23891|.	T|.	0.37|.	.|.	7.7963|7.7963	0.29150|0.29150	0.0:0.1207:0.5314:0.3479|0.0:0.1207:0.5314:0.3479	.|.	389|.	P18084|.	ITB5_HUMAN|.	K|X	389|155	ENSP00000296181:Q389K|.	ENSP00000296181:Q389K|.	Q|S	-|-	1|2	0|0	ITGB5|ITGB5	126010657|126010657	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.353000|4.353000	0.59411|0.59411	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.488	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		T	124527967	G	T	124527967	3	4	37	1	0	0	0	0	1	0	0	0	7900	1299	45	4	1262	4	ITGB5	3	124527967	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	5662711	124527967	73494463	21	2615											
CRMP1	1400	hgsc.bcm.edu	37	4	5838634	5838634	+	Splice_Site	SNP	C	C	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr4:5838634C>A	ENST00000397890.2	-	10	1183		c.e10-1		CRMP1_ENST00000512574.1_Splice_Site|CRMP1_ENST00000511535.1_Splice_Site|CRMP1_ENST00000324989.7_Splice_Site	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1						axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CAAGTCCCCACTGGCAAGGAC	0.532																																																0													80	72	74					4																	5838634		2203	4300	6503	SO:0001630	splice_region_variant	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.969-1G>T	chr4.hg19:g.5838634C>A			A0EJG6|Q13024|Q4W5F1|Q96TC8	Splice_Site	SNP	ENST00000397890.2	hg19	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669144	0.67814	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9555	0.79884	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CRMP1	5889535	1.000000	0.71417	0.990000	0.47175	0.800000	0.45204	7.319000	0.79040	2.325000	0.78763	0.456000	0.33151	.		0.532	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313	Intron	A	5838634	C	A	5838634	5	1	37	1	0	0	0	0	0	0	1	0	3892	579	20	4	770	4	CRMP1	4	5838634	Splice_Site	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10		5838634	185315642	22	2616											
LRBA	987	hgsc.bcm.edu	37	4	151935618	151935618	+	Silent	SNP	T	T	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr4:151935618T>C	ENST00000357115.3	-	2	420	c.177A>G	c.(175-177)gaA>gaG	p.E59E	LRBA_ENST00000507224.1_Silent_p.E59E|LRBA_ENST00000510413.1_Silent_p.E59E|LRBA_ENST00000535741.1_Silent_p.E59E	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	59						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TATTGGATACTTCTCCAACTT	0.438																																																0													56	55	55					4																	151935618		2203	4300	6503	SO:0001819	synonymous_variant	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.177A>G	chr4.hg19:g.151935618T>C			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	hg19	CCDS3773.1																																																																																				0.438	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			C	151935618	T	C	151935618	2	2	37	1	0	0	0	0	0	0	0	1	8933	1606	56	3		3	LRBA	4	151935618	Silent	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	146096984	151935618	39218658	23	2617											
CCDC110	256309	hgsc.bcm.edu	37	4	186379896	186379896	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr4:186379896C>G	ENST00000307588.3	-	6	1920	c.1845G>C	c.(1843-1845)caG>caC	p.Q615H	CCDC110_ENST00000393540.3_Missense_Mutation_p.Q578H|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Missense_Mutation_p.Q615H	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	615						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTCTTTTAGCTGGATTATCT	0.318																																																0													74	78	76					4																	186379896		2200	4295	6495	SO:0001583	missense	256309			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1845G>C	chr4.hg19:g.186379896C>G	ENSP00000306776:p.Gln615His		Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	hg19	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848641	0.32699	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.35421	1.31;1.31;1.31	5.55	1.79	0.24919	.	0.267348	0.27219	N	0.020368	T	0.48040	0.1478	M	0.65975	2.015	0.28722	N	0.902995	D;D;D	0.63880	0.993;0.98;0.993	P;P;P	0.60415	0.874;0.824;0.874	T	0.43523	-0.9386	10	0.72032	D	0.01	-6.7213	6.9762	0.24677	0.0:0.3022:0.0:0.6978	.	615;578;615	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	H	578;615;615	ENSP00000377172:Q578H;ENSP00000306776:Q615H;ENSP00000427246:Q615H	ENSP00000306776:Q615H	Q	-	3	2	CCDC110	186616890	1.000000	0.71417	0.193000	0.23327	0.716000	0.41182	0.893000	0.28336	0.109000	0.17891	0.655000	0.94253	CAG		0.318	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		G	186379896	C	G	186379896	3	3	37	1	0	0	0	0	1	0	0	0	2749	796	28	4	664	4	CCDC110	4	186379896	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	34444278	186379896	4774380	24	2618											
PCDHA7	56141	hgsc.bcm.edu	37	5	140215838	140215838	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr5:140215838G>A	ENST00000525929.1	+	1	1870	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	PCDHA7_ENST00000378125.3_Missense_Mutation_p.V624M|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	624	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGTTCCGCGTGGGGCTGTA	0.637																																					NSCLC(160;258 2013 5070 22440 28951)											0													105	105	105					5																	140215838		2203	4300	6503	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1870G>A	chr5.hg19:g.140215838G>A	ENSP00000436426:p.Val624Met		O75282	Missense_Mutation	SNP	ENST00000525929.1	hg19	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640241	0.29157	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.59502	0.26;0.26	3.57	3.57	0.40892	Cadherin (4);Cadherin-like (1);	0.382752	0.15065	U	0.282541	T	0.75398	0.3844	M	0.78223	2.4	0.21386	N	0.999704	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.984	T	0.66019	-0.6027	10	0.87932	D	0	.	13.8776	0.63662	0.0:0.0:1.0:0.0	.	624;624	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	M	624	ENSP00000436426:V624M;ENSP00000367365:V624M	ENSP00000367365:V624M	V	+	1	0	PCDHA7	140196022	0.411000	0.25384	1.000000	0.80357	0.518000	0.34316	0.668000	0.25127	1.968000	0.57251	0.462000	0.41574	GTG		0.637	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		A	140215838	G	A	140215838	3	1	37	1	0	0	0	0	1	0	0	0	11531	1145	40	1	1872	1	PCDHA7	5	140215838	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10		140215838	40699422	25	2619											
PCDH12	51294	hgsc.bcm.edu	37	5	141331117	141331117	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr5:141331117T>A	ENST00000231484.3	-	2	4129	c.2919A>T	c.(2917-2919)caA>caT	p.Q973H	AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	973					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCTGGAATTGGCCCTGAT	0.547											OREG0016877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													113	104	107					5																	141331117		2203	4300	6503	SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2919A>T	chr5.hg19:g.141331117T>A	ENSP00000231484:p.Gln973His	1663	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	hg19	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228733	0.79576	.	.	ENSG00000113555	ENST00000231484	T	0.76060	-0.99	6.08	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	M	0.74881	2.28	0.44012	D	0.996728	D	0.89917	1.0	D	0.73708	0.981	T	0.80845	-0.1200	10	0.49607	T	0.09	.	6.5721	0.22545	0.0:0.247:0.0:0.753	.	973	Q9NPG4	PCD12_HUMAN	H	973	ENSP00000231484:Q973H	ENSP00000231484:Q973H	Q	-	3	2	PCDH12	141311301	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.537000	0.36083	1.117000	0.41842	0.533000	0.62120	CAA		0.547	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		A	141331117	T	A	141331117	3	1	37	1	0	0	0	0	1	0	0	0	11512	1490	52	5	647	5	PCDH12	5	141331117	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	1115279	141331117	39584143	26	2620											
RANBP17	64901	hgsc.bcm.edu	37	5	170289055	170289055	+	Splice_Site	SNP	G	G	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr5:170289055G>A	ENST00000523189.1	+	1	182	c.18G>A	c.(16-18)caG>caA	p.Q6Q		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	6					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCACTTCCAGGTCAGTGTGC	0.781			T	TRD@	ALL																																		Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													2	2	2					5																	170289055		998	1929	2927	SO:0001630	splice_region_variant	64901			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.18+1G>A	chr5.hg19:g.170289055G>A			Q8IU74	Silent	SNP	ENST00000523189.1	hg19	CCDS34287.1																																																																																				0.781	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	Silent	A	170289055	G	A	170289055	5	1	37	1	0	0	0	0	0	0	1	0	13033	1014	35	2	20	2	RANBP17	5	170289055	Splice_Site	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	28957938	170289055	10626205	27	2621											
KIAA0319	9856	hgsc.bcm.edu	37	6	24551749	24551749	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr6:24551749T>G	ENST00000378214.3	-	20	3477	c.2953A>C	c.(2953-2955)Aaa>Caa	p.K985Q	KIAA0319_ENST00000535378.1_Missense_Mutation_p.K976Q|KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000430948.2_Missense_Mutation_p.K940Q|KIAA0319_ENST00000543707.1_Missense_Mutation_p.K985Q	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	985					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTAGTCCTTTTTTGTCTGAAA	0.373																																																0													234	198	210					6																	24551749		2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2953A>C	chr6.hg19:g.24551749T>G	ENSP00000367459:p.Lys985Gln		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	hg19	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041125	0.75732	.	.	ENSG00000137261	ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T	0.10005	2.92;2.93;2.92;2.92	4.55	4.55	0.56014	.	0.143376	0.46758	D	0.000269	T	0.19725	0.0474	L	0.56396	1.775	0.42490	D	0.992892	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.00891	-1.1525	10	0.62326	D	0.03	-16.8042	14.1127	0.65132	0.0:0.0:0.0:1.0	.	976;985	Q5VV43-2;Q5VV43	.;K0319_HUMAN	Q	976;940;985;985	ENSP00000442403:K976Q;ENSP00000401086:K940Q;ENSP00000367459:K985Q;ENSP00000437656:K985Q	ENSP00000367459:K985Q	K	-	1	0	KIAA0319	24659728	1.000000	0.71417	0.972000	0.41901	0.956000	0.61745	3.686000	0.54685	1.906000	0.55180	0.449000	0.29647	AAA		0.373	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		G	24551749	T	G	24551749	3	3	37	1	0	0	0	0	1	0	0	0	8170	1850	64	5	273	5	KIAA0319	6	24551749	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10		24551749	146563318	28	2622											
HLA-C	3107	hgsc.bcm.edu	37	6	31239449	31239450	+	Frame_Shift_Ins	INS	-	-	T	rs28626310	byFrequency	TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr6:31239449_31239450insT	ENST00000376228.5	-	2	283_284	c.269_270insA	c.(268-270)aagfs	p.K90fs	HLA-C_ENST00000383329.3_Frame_Shift_Ins_p.K90fs	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	90	Alpha-1.		K -> N (in dbSNP:rs28626310).		antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGCGCTTGTACTTCTGTGTCTC	0.698																																																0																																										SO:0001589	frameshift_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.270dupA	chr6.hg19:g.31239451_31239451dupT	ENSP00000365402:p.Lys90fs		O02864|O02958|Q29643|Q9MY30	Frame_Shift_Ins	INS	ENST00000376228.5	hg19	CCDS34393.1																																																																																				0.698	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31239450	-	T	31239449	7	5	37	1	0	1	1	0	0	0	0	0	7199	564	20	0	858	0	HLA-C	6	31239449	Frame_Shift_Ins	INS	-	TCGA-5P-A9KA-01A-11D-A42J-10	6687700	31239449	139875618	29	2623											
FBXL4	26235	hgsc.bcm.edu	37	6	99374476	99374476	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr6:99374476G>A	ENST00000369244.2	-	4	817	c.389C>T	c.(388-390)aCt>aTt	p.T130I	FBXL4_ENST00000229971.1_Missense_Mutation_p.T130I	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	130					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTGTTCAAAAGTAAGTTCCAC	0.443																																																0													95	76	83					6																	99374476		2203	4300	6503	SO:0001583	missense	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.389C>T	chr6.hg19:g.99374476G>A	ENSP00000358247:p.Thr130Ile		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	hg19	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202194	0.38905	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.14893	2.47;2.47	5.52	5.52	0.82312	.	0.301455	0.40144	N	0.001178	T	0.07098	0.0180	N	0.19112	0.55	0.36933	D	0.89199	B	0.18166	0.026	B	0.20577	0.03	T	0.18524	-1.0334	10	0.30854	T	0.27	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	130	Q9UKA2	FBXL4_HUMAN	I	130	ENSP00000358247:T130I;ENSP00000229971:T130I	ENSP00000229971:T130I	T	-	2	0	FBXL4	99481197	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.947000	0.63583	2.765000	0.95021	0.650000	0.86243	ACT		0.443	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			A	99374476	G	A	99374476	3	1	37	1	0	0	0	0	1	0	0	0	5723	1029	36	2	1504	2	FBXL4	6	99374476	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	68135027	99374476	71740591	30	2624											
SESN1	27244	hgsc.bcm.edu	37	6	109319902	109319902	+	Silent	SNP	T	T	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr6:109319902T>G	ENST00000356644.7	-	5	703	c.609A>C	c.(607-609)gtA>gtC	p.V203V	SESN1_ENST00000302071.2_Silent_p.V137V|RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000436639.2_Silent_p.V262V	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	203					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGAGTAAAACTACTGCATGTA	0.423																																																0													106	100	102					6																	109319902		2203	4299	6502	SO:0001819	synonymous_variant	27244			AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.609A>C	chr6.hg19:g.109319902T>G			Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Silent	SNP	ENST00000356644.7	hg19	CCDS56445.1																																																																																				0.423	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		G	109319902	T	G	109319902	2	3	37	1	0	0	0	0	0	0	0	1	14130	1509	53	5		5	SESN1	6	109319902	Silent	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	9945426	109319902	61795165	31	2625											
TUBE1	51175	hgsc.bcm.edu	37	6	112392751	112392751	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr6:112392751T>C	ENST00000368662.5	-	12	1370	c.1292A>G	c.(1291-1293)cAa>cGa	p.Q431R	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	431					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	CCCTTCAACTTGTAGATAGTG	0.358																																																0													109	100	103					6																	112392751		2203	4300	6503	SO:0001583	missense	51175			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"Tubulins"	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.1292A>G	chr6.hg19:g.112392751T>C	ENSP00000357651:p.Gln431Arg		Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	hg19	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784984	0.49997	.	.	ENSG00000074935	ENST00000368662	T	0.78595	-1.19	5.62	5.62	0.85841	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.175445	0.51477	D	0.000096	T	0.65512	0.2698	L	0.48986	1.54	0.80722	D	1	B	0.13145	0.007	B	0.19946	0.027	T	0.67879	-0.5556	10	0.87932	D	0	.	15.807	0.78520	0.0:0.0:0.0:1.0	.	431	Q9UJT0	TBE_HUMAN	R	431	ENSP00000357651:Q431R	ENSP00000357651:Q431R	Q	-	2	0	TUBE1	112499444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.903000	0.56318	2.128000	0.65567	0.533000	0.62120	CAA		0.358	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262		C	112392751	T	C	112392751	3	2	37	1	0	0	0	0	1	0	0	0	16768	1812	63	3	139	3	TUBE1	6	112392751	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	3072849	112392751	58722316	32	2626											
TSPYL4	23270	hgsc.bcm.edu	37	6	116574508	116574508	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr6:116574508C>A	ENST00000420283.1	-	1	753	c.664G>T	c.(664-666)Gac>Tac	p.D222Y	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	222					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		AAGGCCCTGTCAGCCTGGGCA	0.537																																																0													33	34	33					6																	116574508		2017	4176	6193	SO:0001583	missense	23270				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.664G>T	chr6.hg19:g.116574508C>A	ENSP00000410943:p.Asp222Tyr		B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP	ENST00000420283.1	hg19	CCDS5106.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906607	0.72868	.	.	ENSG00000187189	ENST00000420283	T	0.26067	1.76	3.98	3.98	0.46160	.	.	.	.	.	T	0.43634	0.1256	M	0.77820	2.39	0.42876	D	0.994152	D	0.69078	0.997	D	0.77557	0.99	T	0.45308	-0.9270	9	0.72032	D	0.01	-19.1634	14.3987	0.67027	0.0:1.0:0.0:0.0	.	222	Q9UJ04	TSYL4_HUMAN	Y	222	ENSP00000410943:D222Y	ENSP00000410943:D222Y	D	-	1	0	TSPYL4	116681201	0.942000	0.31987	0.994000	0.49952	0.993000	0.82548	2.046000	0.41260	2.514000	0.84764	0.462000	0.41574	GAC		0.537	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041934.2			A	116574508	C	A	116574508	3	1	37	1	0	0	0	0	1	0	0	0	16666	826	29	4	584	4	TSPYL4	6	116574508	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	4181757	116574508	54540559	33	2627											
SHPRH	257218	hgsc.bcm.edu	37	6	146262786	146262786	+	Silent	SNP	A	A	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr6:146262786A>T	ENST00000367505.2	-	10	2727	c.2463T>A	c.(2461-2463)gcT>gcA	p.A821A	SHPRH_ENST00000438092.2_Silent_p.A821A|SHPRH_ENST00000275233.7_Silent_p.A821A|SHPRH_ENST00000367503.3_Silent_p.A821A			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	821	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAACCATCTGAGCTTCATCAA	0.512																																																0													71	75	74					6																	146262786		1977	4155	6132	SO:0001819	synonymous_variant	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2463T>A	chr6.hg19:g.146262786A>T			Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	hg19	CCDS43513.2																																																																																				0.512	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		T	146262786	A	T	146262786	2	4	37	1	0	0	0	0	0	0	0	1	14297	291	11	5		5	SHPRH	6	146262786	Silent	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10	29688278	146262786	24852281	34	2628											
JAZF1	221895	hgsc.bcm.edu	37	7	27872487	27872487	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr7:27872487delG	ENST00000283928.5	-	5	829	c.664delC	c.(664-666)ctgfs	p.L222fs	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	222					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TGGTGCCGCAGGCCCTGAGCT	0.488			T	SUZ12	endometrial stromal tumours																																		Dom	yes		7	7p15.2-p15.1	221895	juxtaposed with another zinc finger gene 1		M	0													171	154	160					7																	27872487		2203	4300	6503	SO:0001589	frameshift_variant	221895			BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"Zinc fingers, C2H2-type"	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.664delC	chr7.hg19:g.27872487delG	ENSP00000283928:p.Leu222fs		A4D195|Q8N3L7	Frame_Shift_Del	DEL	ENST00000283928.5	hg19	CCDS5416.1																																																																																				0.488	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		-	27872487	G	-	27872487	7	5	37	1	0	1	0	1	0	0	0	0	7948	991	35	0	71	0	JAZF1	7	27872487	Frame_Shift_Del	DEL	G	TCGA-5P-A9KA-01A-11D-A42J-10		27872487	131266176	35	2629											
VOPP1	81552	hgsc.bcm.edu	37	7	55560085	55560085	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr7:55560085A>G	ENST00000285279.5	-	4	418	c.218T>C	c.(217-219)tTc>tCc	p.F73S	VOPP1_ENST00000418904.1_Missense_Mutation_p.F56S|VOPP1_ENST00000471168.1_5'Flank|VOPP1_ENST00000454227.1_Missense_Mutation_p.F10S|VOPP1_ENST00000427700.1_Missense_Mutation_p.F71S|VOPP1_ENST00000453256.1_Missense_Mutation_p.F6S|VOPP1_ENST00000428648.1_Missense_Mutation_p.F6S|VOPP1_ENST00000433959.1_Missense_Mutation_p.F64S|VOPP1_ENST00000545390.1_Missense_Mutation_p.F70S|VOPP1_ENST00000428097.1_Missense_Mutation_p.F6S	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	73					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)			endometrium(1)|lung(4)	5						TCCGCAGCAGAAAAGCACGCC	0.622																																																0													17	21	20					7																	55560085		1930	4125	6055	SO:0001583	missense	81552				CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"Glioblastoma-amplified secreted protein", "EGFR-coamplified and overexpressed protein"	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.218T>C	chr7.hg19:g.55560085A>G	ENSP00000285279:p.Phe73Ser		B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Missense_Mutation	SNP	ENST00000285279.5	hg19	CCDS47588.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551347	0.86127	.	.	ENSG00000154978	ENST00000285279;ENST00000428648;ENST00000433959;ENST00000545390;ENST00000428097;ENST00000418904;ENST00000454227;ENST00000453256;ENST00000427700;ENST00000455023;ENST00000414113;ENST00000417399;ENST00000452832	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	T	0.61702	0.2368	N	0.24115	0.695	0.53688	D	0.999971	D;D;D;D	0.76494	0.999;0.997;0.999;0.999	D;D;D;D	0.80764	0.994;0.991;0.994;0.994	T	0.65890	-0.6058	8	0.72032	D	0.01	-14.8351	11.7138	0.51641	1.0:0.0:0.0:0.0	.	56;70;73;64	C9JWR3;B0AZU1;Q96AW1;B3KS72	.;.;VOPP1_HUMAN;.	S	73;6;64;70;6;56;10;6;71;6;6;6;6	.	ENSP00000285279:F73S	F	-	2	0	VOPP1	55527579	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.730000	0.84881	1.635000	0.50512	0.460000	0.39030	TTC		0.622	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343074.1	NM_030796		G	55560085	A	G	55560085	3	3	37	1	0	0	0	0	1	0	0	0	17189	246	9	3	308	3	VOPP1	7	55560085	Missense_Mutation	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10	27687598	55560085	103578578	36	2630											
ZNF713	349075	hgsc.bcm.edu	37	7	56006915	56006915	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr7:56006915A>C	ENST00000429591.2	+	4	547	c.509A>C	c.(508-510)aAt>aCt	p.N170T	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTGAGTGTAATAAATTTGCA	0.383																																																0													57	59	58					7																	56006915		2203	4300	6503	SO:0001583	missense	349075			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.509A>C	chr7.hg19:g.56006915A>C	ENSP00000416662:p.Asn170Thr			Missense_Mutation	SNP	ENST00000429591.2	hg19	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	A	0.926	-0.714248	0.03206	.	.	ENSG00000178665	ENST00000429591	T	0.06933	3.24	3.78	0.12	0.14691	.	0.592008	0.14084	N	0.342516	T	0.07728	0.0194	L	0.55481	1.735	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.30327	-0.9982	10	0.49607	T	0.09	.	3.9021	0.09166	0.4915:0.1908:0.3177:0.0	.	170	Q8N859	ZN713_HUMAN	T	170	ENSP00000416662:N170T	ENSP00000416662:N170T	N	+	2	0	ZNF713	55974409	0.000000	0.05858	0.008000	0.14137	0.057000	0.15508	-1.087000	0.03383	0.015000	0.14971	-0.326000	0.08463	AAT		0.383	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		C	56006915	A	C	56006915	3	2	37	1	0	0	0	0	1	0	0	0	18122	101	4	5	523	5	ZNF713	7	56006915	Missense_Mutation	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10	446830	56006915	103131748	37	2631											
MET	4233	hgsc.bcm.edu	37	7	116423474	116423474	+	Missense_Mutation	SNP	T	T	C	rs121913245		TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr7:116423474T>C	ENST00000318493.6	+	19	3990	c.3803T>C	c.(3802-3804)aTg>aCg	p.M1268T	MET_ENST00000539704.1_Missense_Mutation_p.M120T|MET_ENST00000397752.3_Missense_Mutation_p.M1250T			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M1268T(4)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGAAGTGGATGGCTTTGGAA	0.393			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	4	Substitution - Missense(4)	kidney(4)	GRCh37	CM992181	MET	M	rs121913245						93	92	92					7																	116423474		1872	4102	5974	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3803T>C	chr7.hg19:g.116423474T>C	ENSP00000317272:p.Met1268Thr		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740165	0.69304	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.37752	1.18;1.18;1.18	5.68	5.68	0.88126	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;1.0	T	0.65734	-0.6096	10	0.87932	D	0	.	16.2225	0.82267	0.0:0.0:0.0:1.0	.	1268;1250	P08581-2;P08581	.;MET_HUMAN	T	1250;1268;120	ENSP00000380860:M1250T;ENSP00000317272:M1268T;ENSP00000445020:M120T	ENSP00000317272:M1268T	M	+	2	0	MET	116210710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.289000	0.77006	0.460000	0.39030	ATG		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			C	116423474	T	C	116423474	3	2	37	1	0	0	0	0	1	0	0	0	9487	1464	51	3	3873	3	MET	7	116423474	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	60416559	116423474	42715189	38	2632											
CTTNBP2	83992	hgsc.bcm.edu	37	7	117375153	117375153	+	Splice_Site	SNP	T	T	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr7:117375153T>A	ENST00000160373.3	-	16	3781	c.3690A>T	c.(3688-3690)ggA>ggT	p.G1230G		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1230					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACAGTCCATTTCCTGAAACAA	0.438																																																0													43	46	45					7																	117375153		2203	4300	6503	SO:0001630	splice_region_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3689-1A>T	chr7.hg19:g.117375153T>A			O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	hg19	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	6.108	0.388122	0.11581	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.52	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7914	0.29123	0.0:0.0682:0.2618:0.67	.	.	.	.	X	718	.	.	K	-	1	0	CTTNBP2	117162389	1.000000	0.71417	0.995000	0.50966	0.166000	0.22503	4.491000	0.60326	0.460000	0.27045	-0.313000	0.08912	AAA		0.438	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	Silent	A	117375153	T	A	117375153	5	1	37	1	0	0	0	0	0	0	1	0	4047	1797	62	5	1333	5	CTTNBP2	7	117375153	Splice_Site	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	951679	117375153	41763510	39	2633											
PTPRZ1	5803	hgsc.bcm.edu	37	7	121616253	121616253	+	Silent	SNP	C	C	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr7:121616253C>T	ENST00000393386.2	+	5	894	c.483C>T	c.(481-483)gaC>gaT	p.D161D	PTPRZ1_ENST00000449182.1_Silent_p.D161D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	161	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGATGCGGACCGATTTTCAA	0.308																																																0													112	106	108					7																	121616253		2203	4296	6499	SO:0001819	synonymous_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.483C>T	chr7.hg19:g.121616253C>T			A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	hg19	CCDS34740.1																																																																																				0.308	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121616253	C	T	121616253	2	4	37	1	0	0	0	0	0	0	0	1	12820	506	18	2		2	PTPRZ1	7	121616253	Silent	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	4241100	121616253	37522410	40	2634											
SLC13A1	6561	hgsc.bcm.edu	37	7	122839917	122839917	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr7:122839917G>C	ENST00000194130.2	-	1	123	c.84C>G	c.(82-84)atC>atG	p.I28M		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	28					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGTGGAGGACGATGGGCAGAG	0.433																																																0													123	96	105					7																	122839917		2203	4300	6503	SO:0001583	missense	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.84C>G	chr7.hg19:g.122839917G>C	ENSP00000194130:p.Ile28Met		Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	hg19	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	G	0.327	-0.958172	0.02267	.	.	ENSG00000081800	ENST00000194130	T	0.03035	4.07	5.73	0.75	0.18387	.	0.275865	0.35525	N	0.003157	T	0.05135	0.0137	M	0.67700	2.07	0.21105	N	0.999788	P	0.43542	0.81	B	0.42495	0.389	T	0.26224	-1.0109	10	0.49607	T	0.09	.	4.9281	0.13903	0.4153:0.0:0.4347:0.15	.	28	Q9BZW2	S13A1_HUMAN	M	28	ENSP00000194130:I28M	ENSP00000194130:I28M	I	-	3	3	SLC13A1	122627153	0.387000	0.25188	0.004000	0.12327	0.004000	0.04260	0.832000	0.27490	0.198000	0.20407	0.655000	0.94253	ATC		0.433	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		C	122839917	G	C	122839917	3	2	37	1	0	0	0	0	1	0	0	0	14397	1048	37	4	1763	4	SLC13A1	7	122839917	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	1223664	122839917	36298746	41	2635											
MLL3	58508	hgsc.bcm.edu	37	7	151877112	151877112	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr7:151877112G>T	ENST00000262189.6	-	37	7467	c.7249C>A	c.(7249-7251)Cca>Aca	p.P2417T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P2417T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2417	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGAGGCCCTGGATGAGGCACT	0.552																																																0													246	210	222					7																	151877112		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7249C>A	chr7.hg19:g.151877112G>T	ENSP00000262189:p.Pro2417Thr		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	hg19	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.065	0.769065	0.15983	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83591	-1.74;-1.74	5.5	3.67	0.42095	.	0.332800	0.21736	N	0.069896	T	0.73869	0.3642	L	0.59436	1.845	0.26605	N	0.972947	B;B	0.24823	0.008;0.112	B;B	0.17722	0.003;0.019	T	0.57051	-0.7877	10	0.15499	T	0.54	.	5.2311	0.15422	0.0787:0.3973:0.3945:0.1295	.	2417;1478	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	2417	ENSP00000262189:P2417T;ENSP00000347325:P2417T	ENSP00000262189:P2417T	P	-	1	0	MLL3	151508045	0.106000	0.21978	0.035000	0.18076	0.963000	0.63663	0.673000	0.25203	1.294000	0.44707	0.650000	0.86243	CCA		0.552	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151877112	G	T	151877112	3	4	37	1	0	0	0	0	1	0	0	0	9624	1174	41	4	7578	4	MLL3	7	151877112	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	29037195	151877112	7261551	42	2636											
MLL3	58508	hgsc.bcm.edu	37	7	151919089	151919091	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	GCT	GCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr7:151919089_151919091delGCT	ENST00000262189.6	-	22	3712_3714	c.3494_3496delAGC	c.(3493-3498)gagcta>gta	p.1165_1166EL>V	KMT2C_ENST00000355193.2_In_Frame_Del_p.1165_1166EL>V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1165					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATTTTACCTAGCTCTTTTACTTT	0.315																																																0																																										SO:0001651	inframe_deletion	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3494_3496delAGC	chr7.hg19:g.151919089_151919091delGCT	ENSP00000262189:p.Glu1165_Leu1166delinsVal		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	In_Frame_Del	DEL	ENST00000262189.6	hg19	CCDS5931.1																																																																																				0.315	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	151919091	GCT	-	151919089	7	5	37	1	0	1	0	1	0	0	0	0	9624	962	34	0	11391	0	MLL3	7	151919089	In_Frame_Del	DEL	GCT	TCGA-5P-A9KA-01A-11D-A42J-10	41977	151919089	7219574	43	2637											
ZNF572	137209	hgsc.bcm.edu	37	8	125988832	125988832	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr8:125988832C>A	ENST00000319286.5	+	3	476	c.322C>A	c.(322-324)Cac>Aac	p.H108N		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAAACCCAATCACCAGGAATG	0.418										HNSCC(60;0.17)																																						0													93	99	97					8																	125988832		2203	4300	6503	SO:0001583	missense	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.322C>A	chr8.hg19:g.125988832C>A	ENSP00000319305:p.His108Asn		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	hg19	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	C	1.701	-0.501601	0.04261	.	.	ENSG00000180938	ENST00000319286	T	0.07444	3.19	4.56	1.76	0.24704	.	0.869576	0.09725	N	0.763920	T	0.06371	0.0164	N	0.22421	0.69	0.09310	N	1	B	0.16802	0.019	B	0.19391	0.025	T	0.37549	-0.9701	10	0.72032	D	0.01	-0.0456	5.9665	0.19328	0.0:0.6519:0.1632:0.1849	.	108	Q7Z3I7	ZN572_HUMAN	N	108	ENSP00000319305:H108N	ENSP00000319305:H108N	H	+	1	0	ZNF572	126058013	0.054000	0.20591	0.001000	0.08648	0.102000	0.19082	0.699000	0.25586	0.644000	0.30656	0.655000	0.94253	CAC		0.418	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		A	125988832	C	A	125988832	3	1	37	1	0	0	0	0	1	0	0	0	18009	826	29	4	328	4	ZNF572	8	125988832	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10		125988832	20375190	44	2638											
RANBP6	26953	hgsc.bcm.edu	37	9	6012698	6012698	+	Silent	SNP	G	G	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr9:6012698G>T	ENST00000259569.5	-	1	2920	c.2910C>A	c.(2908-2910)acC>acA	p.T970T	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	970					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K971fs*1(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CATTTTTTTTGGTTTTGGAAT	0.368																																																1	Insertion - Frameshift(1)	NS(1)											108	101	104					9																	6012698		2203	4300	6503	SO:0001819	synonymous_variant	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2910C>A	chr9.hg19:g.6012698G>T			Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	hg19	CCDS6467.1																																																																																				0.368	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		T	6012698	G	T	6012698	2	4	37	1	0	0	0	0	0	0	0	1	13037	1335	47	4		4	RANBP6	9	6012698	Silent	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10		6012698	135200733	45	2639											
PTPLAD2	401494	hgsc.bcm.edu	37	9	21008120	21008120	+	Silent	SNP	A	A	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr9:21008120A>G	ENST00000495827.2	-	6	561	c.516T>C	c.(514-516)ccT>ccC	p.P172P	PTPLAD2_ENST00000513293.2_Silent_p.P172P	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	172					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		ATTCAAAATAAGGCAGCGATT	0.358																																																0													115	110	111					9																	21008120		1869	4102	5971	SO:0001819	synonymous_variant	401494				CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.516T>C	chr9.hg19:g.21008120A>G			Q7Z385	Silent	SNP	ENST00000495827.2	hg19	CCDS43791.1																																																																																				0.358	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		G	21008120	A	G	21008120	2	3	37	1	0	0	0	0	0	0	0	1	12782	59	3	3		3	PTPLAD2	9	21008120	Silent	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10	14995422	21008120	120205311	46	2640											
NOL6	65083	hgsc.bcm.edu	37	9	33467722	33467722	+	Silent	SNP	G	G	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr9:33467722G>A	ENST00000379471.2	-	12	1656	c.1569C>T	c.(1567-1569)aaC>aaT	p.N523N	NOL6_ENST00000455041.2_Silent_p.N471N|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	523					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GAGCCAGCAGGTTCAGCCGAG	0.627																																																0													27	30	29					9																	33467722		2202	4300	6502	SO:0001819	synonymous_variant	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1569C>T	chr9.hg19:g.33467722G>A			Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	hg19																																																																																					0.627	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		A	33467722	G	A	33467722	2	1	37	1	0	0	0	0	0	0	0	1	10527	1252	44	2		2	NOL6	9	33467722	Silent	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	12459602	33467722	107745709	47	2641											
ZBTB5	9925	hgsc.bcm.edu	37	9	37442100	37442100	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr9:37442100C>T	ENST00000307750.4	-	2	637	c.449G>A	c.(448-450)gGa>gAa	p.G150E		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GATGCTTAGTCCCAGCTGCTG	0.597																																																0													58	59	58					9																	37442100		2203	4300	6503	SO:0001583	missense	9925			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.449G>A	chr9.hg19:g.37442100C>T	ENSP00000307604:p.Gly150Glu			Missense_Mutation	SNP	ENST00000307750.4	hg19	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857578	0.71834	.	.	ENSG00000168795	ENST00000307750	T	0.09073	3.02	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07712	-1.0758	10	0.30854	T	0.27	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	150	O15062	ZBTB5_HUMAN	E	150	ENSP00000307604:G150E	ENSP00000307604:G150E	G	-	2	0	ZBTB5	37432100	1.000000	0.71417	0.973000	0.42090	0.872000	0.50106	7.226000	0.78060	2.884000	0.98904	0.655000	0.94253	GGA		0.597	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		T	37442100	C	T	37442100	3	4	37	1	0	0	0	0	1	0	0	0	17556	855	30	2	1588	2	ZBTB5	9	37442100	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	3974378	37442100	103771331	48	2642											
PTGES	9536	hgsc.bcm.edu	37	9	132502088	132502090	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr9:132502088_132502090delGAA	ENST00000340607.4	-	3	293_295	c.259_261delTTC	c.(259-261)ttcdel	p.F87del	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	87					acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				AGGAGTAGACGAAGCCCAGGAAA	0.596																																																0																																										SO:0001651	inframe_deletion	9536			AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase 1-like 1", "tumor protein p53 inducible protein 12", "p53-induced gene 12", "microsomal prostaglandin E synthase-1", "glutathione S-transferase 1-like 1", "MGST1-like 1"	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.259_261delTTC	chr9.hg19:g.132502088_132502090delGAA	ENSP00000342385:p.Phe87del		O14900|Q5SZC0	In_Frame_Del	DEL	ENST00000340607.4	hg19	CCDS6927.1																																																																																				0.596	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054599.2	NM_004878		-	132502090	GAA	-	132502088	7	5	37	1	0	1	0	1	0	0	0	0	12752	1049	37	0	201	0	PTGES	9	132502088	In_Frame_Del	DEL	GAA	TCGA-5P-A9KA-01A-11D-A42J-10	95059988	132502088	8711343	49	2643											
GFI1B	8328	hgsc.bcm.edu	37	9	135863782	135863782	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr9:135863782C>T	ENST00000339463.3	+	8	1256	c.437C>T	c.(436-438)aCt>aTt	p.T146I	GFI1B_ENST00000372122.1_Missense_Mutation_p.T146I|GFI1B_ENST00000450530.1_Missense_Mutation_p.T146I|GFI1B_ENST00000534944.1_Missense_Mutation_p.T146I|GFI1B_ENST00000372123.1_Missense_Mutation_p.T146I|GFI1B_ENST00000372124.1_Missense_Mutation_p.T146I			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	146	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GTGCCCAGCACTGAGCCCGCC	0.637																																																0													70	54	59					9																	135863782		2203	4300	6503	SO:0001583	missense	8328			AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.437C>T	chr9.hg19:g.135863782C>T	ENSP00000344782:p.Thr146Ile		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	hg19	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669057	0.29604	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.09538	3.12;2.97;2.97;3.12;3.12;2.97	4.97	4.97	0.65823	.	0.601268	0.17315	N	0.178721	T	0.12817	0.0311	L	0.36672	1.1	0.20638	N	0.999877	B;B	0.25105	0.118;0.01	B;B	0.29942	0.109;0.013	T	0.15492	-1.0435	10	0.41790	T	0.15	-0.9295	17.229	0.86979	0.0:1.0:0.0:0.0	.	146;146	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	I	146	ENSP00000361197:T146I;ENSP00000344782:T146I;ENSP00000409546:T146I;ENSP00000446134:T146I;ENSP00000361196:T146I;ENSP00000361195:T146I	ENSP00000344782:T146I	T	+	2	0	GFI1B	134853603	0.468000	0.25839	0.029000	0.17559	0.159000	0.22180	5.530000	0.67141	2.276000	0.75962	0.563000	0.77884	ACT		0.637	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		T	135863782	C	T	135863782	3	4	37	1	0	0	0	0	1	0	0	0	6342	565	20	2	447	2	GFI1B	9	135863782	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	3361694	135863782	5349649	50	2644											
AGAP11	119385	hgsc.bcm.edu	37	10	88768386	88768386	+	RNA	SNP	G	G	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr10:88768386G>C	ENST00000444431.1	+	0	2986				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										ATTAAACAGGGCATGCTCTTA	0.493																																																0													174	188	183					10																	88768386		2150	4274	6424			119385					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		chr10.hg19:g.88768386G>C			B9EIP7|D3DWE4	Missense_Mutation	SNP	ENST00000444431.1	hg19																																																																																					0.493	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		C	88768386	G	C	88768386	1	2	37	0	1	0	0	0	0	0	0	0	367	1203	42	4		4	AGAP11	10	88768386	RNA	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10		88768386	46766361	51	2645											
C10orf79	80217	hgsc.bcm.edu	37	10	105990410	105990410	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr10:105990410T>C	ENST00000278064.2	-	2	372	c.47A>G	c.(46-48)aAg>aGg	p.K16R	WDR96_ENST00000428666.1_Missense_Mutation_p.K86R|WDR96_ENST00000369719.1_Missense_Mutation_p.K16R|WDR96_ENST00000357060.3_Missense_Mutation_p.K86R|WDR96_ENST00000369720.1_Missense_Mutation_p.K16R																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGTTTTAGCTTCCGGTCAGA	0.433																																																0													119	110	113					10																	105990410		2203	4300	6503	SO:0001583	missense	80217																														ENST00000278064.2:c.47A>G	chr10.hg19:g.105990410T>C	ENSP00000278064:p.Lys16Arg			Missense_Mutation	SNP	ENST00000278064.2	hg19		.	.	.	.	.	.	.	.	.	.	T	5.114	0.206598	0.09704	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56	4.94	-5.89	0.02282	WD40/YVTN repeat-like-containing domain (1);	1.068010	0.07464	N	0.901047	T	0.07098	0.0180	N	0.16233	0.39	0.09310	N	1	B;B;B	0.20671	0.002;0.047;0.006	B;B;B	0.18561	0.009;0.022;0.009	T	0.44467	-0.9326	10	0.12766	T	0.61	.	11.2618	0.49087	0.0999:0.5681:0.0:0.332	.	86;86;86	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	R	86;86;16;16;16	ENSP00000349568:K86R;ENSP00000400289:K86R;ENSP00000278064:K16R;ENSP00000358734:K16R;ENSP00000358733:K16R	ENSP00000278064:K16R	K	-	2	0	WDR96	105980400	0.000000	0.05858	0.000000	0.03702	0.782000	0.44232	-1.097000	0.03349	-1.561000	0.01684	0.397000	0.26171	AAG		0.433	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			C	105990410	T	C	105990410	3	2	37	1	0	0	0	0	1	0	0	0	1620	1609	56	3	4888	3	C10orf79	10	105990410	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	17222024	105990410	29544337	52	2646											
ATRNL1	26033	hgsc.bcm.edu	37	10	117228744	117228744	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr10:117228744G>T	ENST00000355044.3	+	24	3685	c.3559G>T	c.(3559-3561)Gat>Tat	p.D1187Y	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Missense_Mutation_p.D238Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1187					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGAATACAGAGATAGTTTTTC	0.284																																																0													35	39	38					10																	117228744		2188	4264	6452	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3559G>T	chr10.hg19:g.117228744G>T	ENSP00000347152:p.Asp1187Tyr		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	hg19	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413636	0.62511	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.58652	0.32;0.32	5.73	5.73	0.89815	.	0.092022	0.64402	D	0.000001	T	0.66268	0.2772	L	0.41236	1.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	T	0.56848	-0.7911	10	0.02654	T	1	-28.319	19.9112	0.97025	0.0:0.0:1.0:0.0	.	238;1187	B4DH41;Q5VV63	.;ATRN1_HUMAN	Y	1187;238	ENSP00000347152:D1187Y;ENSP00000409624:D238Y	ENSP00000347152:D1187Y	D	+	1	0	ATRNL1	117218734	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.001000	0.88508	2.718000	0.92993	0.585000	0.79938	GAT		0.284	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		T	117228744	G	T	117228744	3	4	37	1	0	0	0	0	1	0	0	0	1207	942	33	4	3653	4	ATRNL1	10	117228744	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	11238334	117228744	18306003	53	2647											
QSER1	79832	hgsc.bcm.edu	37	11	32955850	32955850	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr11:32955850A>G	ENST00000399302.2	+	4	2994	c.2659A>G	c.(2659-2661)Aaa>Gaa	p.K887E	QSER1_ENST00000527788.1_Missense_Mutation_p.K648E	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	887										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGGTGATTCTAAATCTCATTT	0.388																																																0													79	73	75					11																	32955850		1879	4115	5994	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2659A>G	chr11.hg19:g.32955850A>G	ENSP00000382241:p.Lys887Glu		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	hg19	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022835	0.75275	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.25912	2.1;1.77	5.84	5.84	0.93424	.	0.154150	0.44483	D	0.000455	T	0.49626	0.1568	M	0.64997	1.995	0.51233	D	0.99991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.994	T	0.46871	-0.9160	10	0.54805	T	0.06	.	16.2149	0.82206	1.0:0.0:0.0:0.0	.	648;648;887	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	E	887;648;648	ENSP00000382241:K887E;ENSP00000432766:K648E	ENSP00000078652:K648E	K	+	1	0	QSER1	32912426	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.923000	0.92808	2.234000	0.73211	0.459000	0.35465	AAA		0.388	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		G	32955850	A	G	32955850	3	3	37	1	0	0	0	0	1	0	0	0	12888	363	13	3	2665	3	QSER1	11	32955850	Missense_Mutation	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10		32955850	102050666	54	2648	32	2									
QSER1	79832	hgsc.bcm.edu	37	11	32955852	32955852	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr11:32955852A>T	ENST00000399302.2	+	4	2996	c.2661A>T	c.(2659-2661)aaA>aaT	p.K887N	QSER1_ENST00000527788.1_Missense_Mutation_p.K648N	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	887										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GTGATTCTAAATCTCATTTTC	0.393																																																0													79	74	75					11																	32955852		1879	4114	5993	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2661A>T	chr11.hg19:g.32955852A>T	ENSP00000382241:p.Lys887Asn		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	hg19	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961485	0.53400	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.26660	2.05;1.72	5.84	-0.203	0.13204	.	0.154150	0.44483	D	0.000455	T	0.42539	0.1207	M	0.64997	1.995	0.35835	D	0.825631	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.48736	-0.9009	10	0.56958	D	0.05	.	10.6404	0.45590	0.5806:0.0:0.4194:0.0	.	648;648;887	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	N	887;648;648	ENSP00000382241:K887N;ENSP00000432766:K648N	ENSP00000078652:K648N	K	+	3	2	QSER1	32912428	0.998000	0.40836	0.991000	0.47740	0.993000	0.82548	1.360000	0.34125	-0.056000	0.13221	0.459000	0.35465	AAA		0.393	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		T	32955852	A	T	32955852	3	4	37	1	0	0	0	0	1	0	0	0	12888	98	4	5	2667	5	QSER1	11	32955852	Missense_Mutation	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10	2	32955852	102050664	55	2649	32	2									
IGHMBP2	3508	hgsc.bcm.edu	37	11	68703885	68703885	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr11:68703885T>G	ENST00000255078.3	+	13	2048	c.1937T>G	c.(1936-1938)aTt>aGt	p.I646S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	646	SS DNA-binding. {ECO:0000250}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTTGACGATATTGTCCCAGAA	0.547																																																0													103	104	104					11																	68703885		2200	4294	6494	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1937T>G	chr11.hg19:g.68703885T>G	ENSP00000255078:p.Ile646Ser		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	hg19	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.973900	0.34848	.	.	ENSG00000132740	ENST00000255078	D	0.90261	-2.64	4.1	4.1	0.47936	.	0.358876	0.27816	N	0.017721	D	0.88089	0.6343	L	0.61218	1.895	0.80722	D	1	B	0.20550	0.046	B	0.15870	0.014	D	0.85819	0.1384	10	0.44086	T	0.13	-22.5874	12.4851	0.55868	0.0:0.0:0.0:1.0	.	646	P38935	SMBP2_HUMAN	S	646	ENSP00000255078:I646S	ENSP00000255078:I646S	I	+	2	0	IGHMBP2	68460461	1.000000	0.71417	0.265000	0.24526	0.788000	0.44548	4.434000	0.59935	1.848000	0.53677	0.459000	0.35465	ATT		0.547	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		G	68703885	T	G	68703885	3	3	37	1	0	0	0	0	1	0	0	0	7593	1493	52	5	1987	5	IGHMBP2	11	68703885	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	35748033	68703885	66302631	56	2650											
SIDT2	51092	hgsc.bcm.edu	37	11	117064631	117064631	+	Silent	SNP	C	C	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr11:117064631C>T	ENST00000324225.4	+	24	2805	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	SIDT2_ENST00000532062.1_Silent_p.V50V|SIDT2_ENST00000431081.2_Silent_p.V755V	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	758					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCTCCGTGGTCTGGGGCTTCG	0.617																																																0													100	92	95					11																	117064631		2201	4296	6497	SO:0001819	synonymous_variant	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2274C>T	chr11.hg19:g.117064631C>T			Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	hg19	CCDS31682.1																																																																																				0.617	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		T	117064631	C	T	117064631	2	4	37	1	0	0	0	0	0	0	0	1	14309	900	32	2		2	SIDT2	11	117064631	Silent	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	48360746	117064631	17941885	57	2651											
DSCAML1	57453	hgsc.bcm.edu	37	11	117335821	117335844	+	In_Frame_Del	DEL	GTTGCTGCCGGGGCTGTTCTCTCT	GTTGCTGCCGGGGCTGTTCTCTCT	-	rs375180039|rs140840612|rs574227365		TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	GTTGCTGCCGGGGCTGTTCTCTCT	GTTGCTGCCGGGGCTGTTCTCTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr11:117335821_117335844delGTTGCTGCCGGGGCTGTTCTCTCT	ENST00000321322.6	-	17	3260_3283	c.3259_3282delAGAGAGAACAGCCCCGGCAGCAAC	c.(3259-3282)agagagaacagccccggcagcaacdel	p.RENSPGSN1087del	DSCAML1_ENST00000527706.1_In_Frame_Del_p.RENSPGSN817del	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1027	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGTACTGCCCGTTGCTGCCGGGGCTGTTCTCTCTGTAGCCAATC	0.598																																																0																																										SO:0001651	inframe_deletion	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3259_3282delAGAGAGAACAGCCCCGGCAGCAAC	chr11.hg19:g.117335821_117335844delGTTGCTGCCGGGGCTGTTCTCTCT	ENSP00000315465:p.Arg1087_Asn1094del		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	In_Frame_Del	DEL	ENST00000321322.6	hg19	CCDS8384.1																																																																																				0.598	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		-	117335844	GTTGCTGCCGGGGCTGTTCTCTCT	-	117335821	7	5	37	1	0	1	0	1	0	0	0	0	4771	1136	40	0	3127	0	DSCAML1	11	117335821	In_Frame_Del	DEL	GTTGCTGCCGGGGCTGTTCTCTCT	TCGA-5P-A9KA-01A-11D-A42J-10	271190	117335821	17670695	58	2652											
RNF26	79102	hgsc.bcm.edu	37	11	119206568	119206568	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr11:119206568C>A	ENST00000311413.4	+	1	1332	c.736C>A	c.(736-738)Cat>Aat	p.H246N	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	246						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GACTGTGTTGCATCCGGACTT	0.612																																																0													105	99	101					11																	119206568		2199	4295	6494	SO:0001583	missense	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.736C>A	chr11.hg19:g.119206568C>A	ENSP00000312439:p.His246Asn		Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	hg19	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	C	2.446	-0.327525	0.05314	.	.	ENSG00000173456	ENST00000311413	T	0.25414	1.8	5.21	5.21	0.72293	.	0.069763	0.53938	D	0.000046	T	0.26557	0.0649	N	0.24115	0.695	0.35730	D	0.817828	D	0.53885	0.963	P	0.58873	0.847	T	0.11012	-1.0605	10	0.10636	T	0.68	-14.9067	9.8055	0.40791	0.0:0.9063:0.0:0.0937	.	246	Q9BY78	RNF26_HUMAN	N	246	ENSP00000312439:H246N	ENSP00000312439:H246N	H	+	1	0	RNF26	118711778	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	2.732000	0.47352	2.432000	0.82394	0.561000	0.74099	CAT		0.612	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		A	119206568	C	A	119206568	3	1	37	1	0	0	0	0	1	0	0	0	13492	710	25	4	738	4	RNF26	11	119206568	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	1870747	119206568	15799948	59	2653											
B3GAT1	27087	hgsc.bcm.edu	37	11	134253770	134253770	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr11:134253770G>C	ENST00000524765.1	-	3	4969	c.425C>G	c.(424-426)aCg>aGg	p.T142R	B3GAT1_ENST00000312527.4_Missense_Mutation_p.T142R|B3GAT1_ENST00000392580.1_Missense_Mutation_p.T142R|B3GAT1_ENST00000537389.1_Missense_Mutation_p.T155R|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	142					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GTGCAGGTGCGTGTAGTTGAG	0.726																																																0													30	29	29					11																	134253770		2175	4226	6401	SO:0001583	missense	27087			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.425C>G	chr11.hg19:g.134253770G>C	ENSP00000433847:p.Thr142Arg		Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	hg19	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	37	6.104294	0.97286	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.66822	-0.5826	10	0.23302	T	0.38	-24.5871	19.1576	0.93517	0.0:0.0:1.0:0.0	.	155;142	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	R	142;142;142;155	ENSP00000376359:T142R;ENSP00000307875:T142R;ENSP00000433847:T142R;ENSP00000445983:T155R	ENSP00000307875:T142R	T	-	2	0	B3GAT1	133758980	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.822000	0.99363	2.541000	0.85698	0.561000	0.74099	ACG		0.726	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		C	134253770	G	C	134253770	3	2	37	1	0	0	0	0	1	0	0	0	1253	1145	40	4	591	4	B3GAT1	11	134253770	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	15047202	134253770	752746	60	2654											
PEX5	5830	hgsc.bcm.edu	37	12	7351708	7351710	+	Splice_Site	DEL	TGG	TGG	-			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	TGG	TGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr12:7351708_7351710delTGG	ENST00000455147.2	+	7	1130_1131	c.550_551delTGG	c.(550-552)tgg>g	p.W184del	PEX5_ENST00000434354.2_Splice_Site_p.W199del|PEX5_ENST00000412720.2_Splice_Site_p.W205del|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000420616.2_Splice_Site_p.W184del|PEX5_ENST00000266563.5_Splice_Site_p.W184del|PEX5_ENST00000266564.3_Splice_Site_p.W184del	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	184					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CACCGATCGCTGGTGAGTTCAGA	0.522																																																0																																										SO:0001630	splice_region_variant	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.551+1TGG>-	chr12.hg19:g.7351708_7351710delTGG			A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	In_Frame_Del	DEL	ENST00000455147.2	hg19	CCDS44823.1																																																																																				0.522	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	In_Frame_Del	-	7351710	TGG	-	7351708	8	5	37	1	0	1	0	1	0	0	1	0	11750	1594	55	0	613	0	PEX5	12	7351708	Splice_Site	DEL	TGG	TCGA-5P-A9KA-01A-11D-A42J-10		7351708	126500187	61	2655											
PRB4	5545	hgsc.bcm.edu	37	12	11461534	11461596	+	In_Frame_Del	DEL	CCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	CCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	-	rs11054244|rs59021567|rs11054243|rs551775057|rs12303607|rs199532199|rs148027029|rs71057722|rs59189129|rs536297617	byFrequency	TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	CCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	CCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr12:11461534_11461596delCCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	ENST00000535904.1	-	3	354_416	c.321_383delAAACCAGTCCCAAGGTACCCCACCTCCTCCAGGAAAGCCAGAAAGACCACCCCCACAAGGAGG	c.(319-384)ggaaaccagtcccaaggtaccccacctcctccaggaaagccagaaagaccacccccacaaggaggc>ggc	p.107_128GNQSQGTPPPPGKPERPPPQGG>G	PRB4_ENST00000445719.2_Splice_Site_p.107_112GNQSQG>G|PRB4_ENST00000279575.1_In_Frame_Del_p.107_128GNQSQGTPPPPGKPERPPPQGG>G			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	128	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).	SR -> RP (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)		p.P115L(1)|p.G118E(1)|p.P117T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTGCCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTTCCTCCTTGTG	0.605										HNSCC(22;0.051)																																						3	Substitution - Missense(3)	lung(1)|kidney(1)|skin(1)																																								SO:0001651	inframe_deletion	5545				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.321_383delAAACCAGTCCCAAGGTACCCCACCTCCTCCAGGAAAGCCAGAAAGACCACCCCCACAAGGAGG	chr12.hg19:g.11461534_11461596delCCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	ENSP00000442834:p.Gly107_Gly127del		A1L439|O00600|P02813|P10161|P10162|P81489	Frame_Shift_Del	DEL	ENST00000535904.1	hg19	CCDS8641.1																																																																																				0.605	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		-	11461596	CCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	-	11461534	7	5	37	1	0	1	0	1	0	0	0	0	12450	739	26	0	364	0	PRB4	12	11461534	In_Frame_Del	DEL	CCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	TCGA-5P-A9KA-01A-11D-A42J-10	4109826	11461534	122390361	62	2656											
PTPRB	5787	hgsc.bcm.edu	37	12	70974991	70974991	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr12:70974991T>G	ENST00000261266.5	-	8	1778	c.1749A>C	c.(1747-1749)gaA>gaC	p.E583D	PTPRB_ENST00000550358.1_Missense_Mutation_p.E801D|PTPRB_ENST00000550857.1_Missense_Mutation_p.E493D|PTPRB_ENST00000451516.2_Missense_Mutation_p.E493D|PTPRB_ENST00000551525.1_Missense_Mutation_p.E800D|PTPRB_ENST00000334414.6_Missense_Mutation_p.E801D|PTPRB_ENST00000538708.1_Missense_Mutation_p.E583D	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	583	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTGGTAAAATTCTACGTCTC	0.458																																																0													137	136	136					12																	70974991		1932	4140	6072	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1749A>C	chr12.hg19:g.70974991T>G	ENSP00000261266:p.Glu583Asp		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	0.968	-0.701100	0.03255	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.86	-10.8	0.00216	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.192388	0.53938	N	0.000057	T	0.08537	0.0212	N	0.00608	-1.33	0.20196	N	0.999928	B;B;B;B;B;B;B	0.09022	0.0;0.0;0.0;0.001;0.002;0.0;0.001	B;B;B;B;B;B;B	0.08055	0.002;0.002;0.002;0.002;0.003;0.003;0.003	T	0.46414	-0.9193	10	0.02654	T	1	.	1.1909	0.01864	0.1973:0.1989:0.3143:0.2895	.	493;583;680;800;801;583;801	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	D	801;493;801;801;583;493;583;800;680	ENSP00000334928:E801D;ENSP00000393028:E493D;ENSP00000448058:E801D;ENSP00000438927:E583D;ENSP00000447302:E493D;ENSP00000261266:E583D;ENSP00000448349:E800D;ENSP00000446982:E680D	ENSP00000261266:E583D	E	-	3	2	PTPRB	69261258	0.000000	0.05858	0.614000	0.29051	0.388000	0.30384	-2.979000	0.00663	-1.448000	0.01941	-0.309000	0.09137	GAA		0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			G	70974991	T	G	70974991	3	3	37	1	0	0	0	0	1	0	0	0	12802	1490	52	5	4344	5	PTPRB	12	70974991	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	59513457	70974991	62876904	63	2657											
KNTC1	9735	hgsc.bcm.edu	37	12	123034324	123034324	+	Silent	SNP	C	C	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr12:123034324C>A	ENST00000333479.7	+	13	1176	c.999C>A	c.(997-999)ctC>ctA	p.L333L	KNTC1_ENST00000450485.2_Silent_p.L296L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	333					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGAAAAACCTCATGGTTTATT	0.308																																																0													44	41	42					12																	123034324		1806	4067	5873	SO:0001819	synonymous_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.999C>A	chr12.hg19:g.123034324C>A			A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	hg19	CCDS45002.1																																																																																				0.308	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			A	123034324	C	A	123034324	2	1	37	1	0	0	0	0	0	0	0	1	8430	813	29	4		4	KNTC1	12	123034324	Silent	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	52059333	123034324	10817571	64	2658											
PABPC3	5042	hgsc.bcm.edu	37	13	25670355	25670366	+	In_Frame_Del	DEL	AGCTACCCAACG	AGCTACCCAACG	-	rs371856829|rs533997128		TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	AGCTACCCAACG	AGCTACCCAACG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr13:25670355_25670366delAGCTACCCAACG	ENST00000281589.3	+	1	56_67	c.19_30delAGCTACCCAACG	c.(19-30)agctacccaacgdel	p.SYPT7del		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	7					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGCACCCCCAGCTACCCAACGGCCTCGCTCT	0.67																																																0																																										SO:0001651	inframe_deletion	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.19_30delAGCTACCCAACG	chr13.hg19:g.25670355_25670366delAGCTACCCAACG	ENSP00000281589:p.Ser7_Thr10del		Q8NHV0|Q9H086	In_Frame_Del	DEL	ENST00000281589.3	hg19	CCDS9311.1																																																																																				0.67	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		-	25670366	AGCTACCCAACG	-	25670355	7	5	37	1	0	1	0	1	0	0	0	0	11367	188	7	0	21	0	PABPC3	13	25670355	In_Frame_Del	DEL	AGCTACCCAACG	TCGA-5P-A9KA-01A-11D-A42J-10		25670355	89499523	65	2659											
ZIC5	85416	hgsc.bcm.edu	37	13	100623797	100623798	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr13:100623797_100623798CC>GT	ENST00000267294.4	-	1	365_366	c.132_133GG>AC	c.(130-135)acGGct>acACct	p.A45P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	45					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGACCTGAGCCGTTGCCAAAT	0.658																																																0																																										SO:0001583	missense	85416			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.132_133delinsGT	chr13.hg19:g.100623797_100623798delinsGT	ENSP00000267294:p.Ala45Pro		Q5VYB0	Missense_Mutation|Silent	SNP	ENST00000267294.4	hg19	CCDS9494.2																																																																																				0.658	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		GT	100623798	CC	GT	100623797	3	3	37	1	0	0	0	0	1	0	0	0	17687	739	26	4	1866	4	ZIC5	13	100623797	Missense_Mutation	DNP	CC	TCGA-5P-A9KA-01A-11D-A42J-10	74953442	100623797	14546081	66	2660											
TPP2	7174	hgsc.bcm.edu	37	13	103289504	103289504	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr13:103289504G>A	ENST00000376065.4	+	14	1787	c.1751G>A	c.(1750-1752)aGc>aAc	p.S584N	TPP2_ENST00000376052.3_Missense_Mutation_p.S584N	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	584					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGTGTCCCAGCCATTTGGAA	0.383																																																0													116	112	113					13																	103289504		2203	4300	6503	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1751G>A	chr13.hg19:g.103289504G>A	ENSP00000365233:p.Ser584Asn		Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	hg19	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587138	0.46110	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.92	5.04	0.67666	.	0.178273	0.64402	D	0.000007	T	0.56891	0.2016	L	0.44542	1.39	0.47949	D	0.999558	B	0.18166	0.026	B	0.18561	0.022	T	0.50939	-0.8768	9	0.33141	T	0.24	.	18.5671	0.91120	0.0:0.1842:0.8158:0.0	.	584	P29144	TPP2_HUMAN	N	584	.	ENSP00000365220:S584N	S	+	2	0	TPP2	102087505	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.411000	0.52672	2.822000	0.97130	0.650000	0.86243	AGC		0.383	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			A	103289504	G	A	103289504	3	1	37	1	0	0	0	0	1	0	0	0	16417	971	34	2	1805	2	TPP2	13	103289504	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	2665707	103289504	11880374	67	2661											
TRAPPC6B	122553	hgsc.bcm.edu	37	14	39627583	39627583	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr14:39627583delA	ENST00000330149.5	-	3	399	c.173delT	c.(172-174)ttcfs	p.F58fs	TRAPPC6B_ENST00000557764.1_Intron|TRAPPC6B_ENST00000347691.5_Frame_Shift_Del_p.F58fs	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	58					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		CTCATCCTTGAACCTTGCAGT	0.313																																																0													93	90	91					14																	39627583		2203	4295	6498	SO:0001589	frameshift_variant	122553			AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"Trafficking protein particle complex"	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.173delT	chr14.hg19:g.39627583delA	ENSP00000330289:p.Phe58fs		B3KPS2|Q5JPD6|Q86U35|Q86X35	Frame_Shift_Del	DEL	ENST00000330149.5	hg19	CCDS41947.1																																																																																				0.313	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452		-	39627583	A	-	39627583	7	5	37	1	0	1	0	1	0	0	0	0	16469	246	9	0	319	0	TRAPPC6B	14	39627583	Frame_Shift_Del	DEL	A	TCGA-5P-A9KA-01A-11D-A42J-10		39627583	67721957	68	2662											
SYNE2	23224	hgsc.bcm.edu	37	14	64494496	64494496	+	Silent	SNP	T	T	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr14:64494496T>C	ENST00000344113.4	+	43	6911	c.6699T>C	c.(6697-6699)ctT>ctC	p.L2233L	SYNE2_ENST00000554584.1_Silent_p.L2233L|SYNE2_ENST00000358025.3_Silent_p.L2233L|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2233					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACGAAAGTCTTCTTCAACAAC	0.378																																																0													58	53	55					14																	64494496		1847	4099	5946	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6699T>C	chr14.hg19:g.64494496T>C			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	hg19	CCDS41963.1																																																																																				0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		C	64494496	T	C	64494496	2	2	37	1	0	0	0	0	0	0	0	1	15451	1770	62	3		3	SYNE2	14	64494496	Silent	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	24866913	64494496	42855044	69	2663											
CPSF2	53981	hgsc.bcm.edu	37	14	92627590	92627590	+	Splice_Site	SNP	A	A	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr14:92627590A>T	ENST00000298875.4	+	15	2541	c.2256A>T	c.(2254-2256)agA>agT	p.R752S		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	752					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CAGTCCGCAGAGTAAGTGTGT	0.388																																					Ovarian(78;28 1788 18702 44111)											0													152	141	145					14																	92627590		2203	4300	6503	SO:0001630	splice_region_variant	53981			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.2256+1A>T	chr14.hg19:g.92627590A>T			B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	hg19	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.759873	0.89932	.	.	ENSG00000165934	ENST00000298875	T	0.53640	0.61	5.78	0.956	0.19608	.	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.61936	-0.6960	10	0.87932	D	0	.	8.5209	0.33275	0.4617:0.0:0.5383:0.0	.	752	Q9P2I0	CPSF2_HUMAN	S	752	ENSP00000298875:R752S	ENSP00000298875:R752S	R	+	3	2	CPSF2	91697343	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	3.124000	0.50461	0.134000	0.18681	0.533000	0.62120	AGA		0.388	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1		Missense_Mutation	T	92627590	A	T	92627590	5	4	37	1	0	0	0	0	0	0	1	0	3827	318	11	5	2306	5	CPSF2	14	92627590	Splice_Site	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10	28133094	92627590	14721950	70	2664											
TLN2	83660	hgsc.bcm.edu	37	15	63112730	63112731	+	Frame_Shift_Ins	INS	-	-	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr15:63112730_63112731insA	ENST00000561311.1	+	53	7153_7154	c.6923_6924insA	c.(6922-6927)acagagfs	p.E2309fs	TLN2_ENST00000306829.6_Frame_Shift_Ins_p.E2309fs			Q9Y4G6	TLN2_HUMAN	talin 2	2309	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATTGCAGAAACAGAGTTACTGG	0.47																																																0																																										SO:0001589	frameshift_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6924dupA	chr15.hg19:g.63112731_63112731dupA	ENSP00000453508:p.Glu2309fs		A6NLB8	Frame_Shift_Ins	INS	ENST00000561311.1	hg19	CCDS32261.1																																																																																				0.47	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			A	63112731	-	A	63112730	7	5	37	1	0	1	1	0	0	0	0	0	15953	478	17	0	7125	0	TLN2	15	63112730	Frame_Shift_Ins	INS	-	TCGA-5P-A9KA-01A-11D-A42J-10		63112730	39418662	71	2665											
TSC2	7249	hgsc.bcm.edu	37	16	2112991	2112991	+	Silent	SNP	C	C	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr16:2112991C>G	ENST00000219476.3	+	14	2010	c.1380C>G	c.(1378-1380)gcC>gcG	p.A460A	TSC2_ENST00000401874.2_Silent_p.A460A|TSC2_ENST00000350773.4_Silent_p.A460A|TSC2_ENST00000568454.1_Silent_p.A471A|TSC2_ENST00000382538.6_Silent_p.A411A|TSC2_ENST00000439673.2_Silent_p.A423A|TSC2_ENST00000353929.4_Silent_p.A460A	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	460					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCCGAGGCGCCGTGCGCATCA	0.706			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													53	42	46					16																	2112991		1960	3715	5675	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1380C>G	chr16.hg19:g.2112991C>G			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	hg19	CCDS10458.1																																																																																				0.706	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		G	2112991	C	G	2112991	2	3	37	1	0	0	0	0	0	0	0	1	16611	639	23	4		4	TSC2	16	2112991	Silent	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10		2112991	88241762	72	2666											
ZC3H7A	29066	hgsc.bcm.edu	37	16	11856530	11856530	+	Frame_Shift_Del	DEL	C	C	-	rs571101988		TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr16:11856530delC	ENST00000396516.2	-	16	2273	c.2076delG	c.(2074-2076)gcgfs	p.A692fs	ZC3H7A_ENST00000575984.1_5'Flank|ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.A692fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	692						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A692A(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAAATACCTGCGCTCCAGGTA	0.413																																																1	Substitution - coding silent(1)	prostate(1)											115	99	105					16																	11856530		2197	4300	6497	SO:0001589	frameshift_variant	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2076delG	chr16.hg19:g.11856530delC	ENSP00000379773:p.Ala692fs		D3DUG5|Q9NPE9	Frame_Shift_Del	DEL	ENST00000396516.2	hg19	CCDS10550.1																																																																																				0.413	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		-	11856530	C	-	11856530	7	5	37	1	0	1	0	1	0	0	0	0	17577	755	27	0	867	0	ZC3H7A	16	11856530	Frame_Shift_Del	DEL	C	TCGA-5P-A9KA-01A-11D-A42J-10	9743539	11856530	78498223	73	2667	33	2									
ZC3H7A	29066	hgsc.bcm.edu	37	16	11856532	11856534	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr16:11856532_11856534delCTC	ENST00000396516.2	-	16	2269_2271	c.2072_2074delGAG	c.(2071-2076)ggagcg>gcg	p.G691del	ZC3H7A_ENST00000575984.1_5'Flank|ZC3H7A_ENST00000355758.4_In_Frame_Del_p.G691del			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	691						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AATACCTGCGCTCCAGGTACATT	0.404																																																0																																										SO:0001651	inframe_deletion	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2072_2074delGAG	chr16.hg19:g.11856532_11856534delCTC	ENSP00000379773:p.Gly691del		D3DUG5|Q9NPE9	In_Frame_Del	DEL	ENST00000396516.2	hg19	CCDS10550.1																																																																																				0.404	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		-	11856534	CTC	-	11856532	7	5	37	1	0	1	0	1	0	0	0	0	17577	797	28	0	869	0	ZC3H7A	16	11856532	In_Frame_Del	DEL	CTC	TCGA-5P-A9KA-01A-11D-A42J-10	2	11856532	78498221	74	2668	33	2									
ZFHX3	463	hgsc.bcm.edu	37	16	72991450	72991450	+	Silent	SNP	G	G	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr16:72991450G>A	ENST00000268489.5	-	2	3267	c.2595C>T	c.(2593-2595)taC>taT	p.Y865Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	865					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTGGGCCAGGTAGTATTGGT	0.607																																																0													115	105	108					16																	72991450		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2595C>T	chr16.hg19:g.72991450G>A			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	hg19	CCDS10908.1																																																																																				0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72991450	G	A	72991450	2	1	37	1	0	0	0	0	0	0	0	1	17639	1256	44	2		2	ZFHX3	16	72991450	Silent	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	61134918	72991450	17363303	75	2669											
C17orf68	80169	hgsc.bcm.edu	37	17	8137889	8137889	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr17:8137889C>T	ENST00000315684.8	-	10	1709	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	568					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GCCTTAGGGTCAAAGGAGGCC	0.632																																																0													45	53	50					17																	8137889		2051	4182	6233	SO:0001583	missense	80169			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1702G>A	chr17.hg19:g.8137889C>T	ENSP00000313759:p.Asp568Asn		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	hg19	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	c	11.75	1.732111	0.30684	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.84589	-1.87;-1.87	5.44	4.47	0.54385	.	0.422251	0.23775	N	0.044690	T	0.81550	0.4846	M	0.65975	2.015	0.32033	N	0.599281	B	0.23540	0.087	B	0.25759	0.063	T	0.76926	-0.2778	10	0.16896	T	0.51	-7.7145	10.2272	0.43233	0.0:0.9083:0.0:0.0917	.	568	Q2NKJ3	CTC1_HUMAN	N	568;533	ENSP00000313759:D568N;ENSP00000396018:D533N	ENSP00000313759:D568N	D	-	1	0	CTC1	8078614	0.998000	0.40836	1.000000	0.80357	0.708000	0.40852	0.458000	0.21892	1.328000	0.45358	-0.371000	0.07208	GAC		0.632	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		T	8137889	C	T	8137889	3	4	37	1	0	0	0	0	1	0	0	0	1878	826	29	2	2007	2	C17orf68	17	8137889	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10		8137889	73057321	76	2670											
USP43	124739	hgsc.bcm.edu	37	17	9559778	9559778	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr17:9559778delA	ENST00000285199.7	+	2	659	c.563delA	c.(562-564)gaafs	p.E188fs	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Frame_Shift_Del_p.E188fs	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	188	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GACGCCCTGGAATTCCTGCTC	0.522																																																0													75	73	74					17																	9559778		1866	4108	5974	SO:0001589	frameshift_variant	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.563delA	chr17.hg19:g.9559778delA	ENSP00000285199:p.Glu188fs		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Frame_Shift_Del	DEL	ENST00000285199.7	hg19	CCDS45610.1																																																																																				0.522	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		-	9559778	A	-	9559778	7	5	37	1	0	1	0	1	0	0	0	0	17079	246	9	0	569	0	USP43	17	9559778	Frame_Shift_Del	DEL	A	TCGA-5P-A9KA-01A-11D-A42J-10	1421889	9559778	71635432	77	2671											
MYH8	4626	hgsc.bcm.edu	37	17	10299694	10299694	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr17:10299694C>A	ENST00000403437.2	-	33	4700	c.4606G>T	c.(4606-4608)Gta>Tta	p.V1536L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1536					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTGTTCTACTTGCTTCTTT	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													169	149	156					17																	10299694		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4606G>T	chr17.hg19:g.10299694C>A	ENSP00000384330:p.Val1536Leu		Q14910	Missense_Mutation	SNP	ENST00000403437.2	hg19	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	1.961	-0.438953	0.04636	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.55588	0.51	5.26	4.3	0.51218	Myosin tail (1);	0.267575	0.20576	U	0.089628	T	0.14700	0.0355	N	0.00507	-1.42	0.29779	N	0.834145	B	0.02656	0.0	B	0.06405	0.002	T	0.29701	-1.0003	10	0.02654	T	1	.	5.6007	0.17351	0.0:0.6792:0.0:0.3208	.	1536	P13535	MYH8_HUMAN	L	1536	ENSP00000384330:V1536L	ENSP00000252173:V1536L	V	-	1	0	MYH8	10240419	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.501000	0.02281	1.458000	0.47871	0.650000	0.86243	GTA		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10299694	C	A	10299694	3	1	37	1	0	0	0	0	1	0	0	0	10043	565	20	4	1239	4	MYH8	17	10299694	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	739916	10299694	70895516	78	2672											
SPAG5	10615	hgsc.bcm.edu	37	17	26906847	26906847	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr17:26906847A>C	ENST00000321765.5	-	17	3138	c.2806T>G	c.(2806-2808)Tca>Gca	p.S936A	ALDOC_ENST00000395321.2_5'Flank|ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395319.3_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	936					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ACAGGAGTTGATTCTGGCTCT	0.532																																																0													107	111	110					17																	26906847		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2806T>G	chr17.hg19:g.26906847A>C	ENSP00000323300:p.Ser936Ala		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	hg19	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	a	1.508	-0.550368	0.03996	.	.	ENSG00000076382	ENST00000321765	T	0.29142	1.58	5.51	-2.49	0.06403	.	0.926052	0.09003	N	0.862743	T	0.11580	0.0282	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.36625	-0.9740	10	0.07813	T	0.8	0.0217	6.531	0.22326	0.2456:0.4877:0.2668:0.0	.	936	Q96R06	SPAG5_HUMAN	A	936	ENSP00000323300:S936A	ENSP00000323300:S936A	S	-	1	0	SPAG5	23930974	0.320000	0.24616	0.867000	0.34043	0.630000	0.37929	-0.063000	0.11655	-0.336000	0.08438	0.524000	0.50904	TCA		0.532	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		C	26906847	A	C	26906847	3	2	37	1	0	0	0	0	1	0	0	0	14987	333	12	5	807	5	SPAG5	17	26906847	Missense_Mutation	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10	16607153	26906847	54288363	79	2673											
TBX21	30009	hgsc.bcm.edu	37	17	45822709	45822709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr17:45822709delT	ENST00000177694.1	+	6	1796	c.1585delT	c.(1585-1587)tttfs	p.F529fs		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	529					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAAGGACAGTTTTATAACTA	0.483																																																0													44	50	48					17																	45822709		2199	4298	6497	SO:0001589	frameshift_variant	30009			AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"T-boxes"	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1585delT	chr17.hg19:g.45822709delT	ENSP00000177694:p.Phe529fs			Frame_Shift_Del	DEL	ENST00000177694.1	hg19	CCDS11514.1																																																																																				0.483	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		-	45822709	T	-	45822709	7	5	37	1	0	1	0	1	0	0	0	0	15662	1725	60	0	1607	0	TBX21	17	45822709	Frame_Shift_Del	DEL	T	TCGA-5P-A9KA-01A-11D-A42J-10	18915862	45822709	35372501	80	2674											
LAMA3	3909	hgsc.bcm.edu	37	18	21343469	21343469	+	Silent	SNP	G	G	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr18:21343469G>T	ENST00000313654.9	+	8	1405	c.1164G>T	c.(1162-1164)ggG>ggT	p.G388G	LAMA3_ENST00000399516.3_Silent_p.G388G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	388	Domain V.|Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTGGTGGAGGGGTCTGCATTA	0.488																																																0													126	129	128					18																	21343469		2023	4178	6201	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1164G>T	chr18.hg19:g.21343469G>T			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	hg19	CCDS42419.1																																																																																				0.488	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21343469	G	T	21343469	2	4	37	1	0	0	0	0	0	0	0	1	8609	1219	43	4		4	LAMA3	18	21343469	Silent	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10		21343469	56733779	81	2675											
C18orf25	147339	hgsc.bcm.edu	37	18	43796193	43796193	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr18:43796193A>T	ENST00000282059.6	+	2	721	c.347A>T	c.(346-348)gAa>gTa	p.E116V	C18orf25_ENST00000321319.6_Missense_Mutation_p.E116V	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	116										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GAAGAGAATGAACCCTCTCAG	0.522																																																0													102	102	102					18																	43796193		1920	4136	6056	SO:0001583	missense	147339			AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"ARKadia-like 1"					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.347A>T	chr18.hg19:g.43796193A>T	ENSP00000282059:p.Glu116Val		A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	hg19	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.291056	0.59976	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.95	5.95	0.96441	.	0.108809	0.64402	D	0.000013	T	0.50514	0.1620	L	0.38175	1.15	0.47737	D	0.9995	B;P	0.45531	0.007;0.86	B;P	0.47075	0.013;0.536	T	0.54556	-0.8276	9	0.72032	D	0.01	-14.0694	12.2973	0.54854	0.8589:0.1411:0.0:0.0	.	116;116	Q96B23-2;Q96B23	.;CR025_HUMAN	V	116	.	ENSP00000282059:E116V	E	+	2	0	C18orf25	42050191	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.954000	0.56708	2.282000	0.76494	0.533000	0.62120	GAA		0.522	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		T	43796193	A	T	43796193	3	4	37	1	0	0	0	0	1	0	0	0	1901	246	9	5	349	5	C18orf25	18	43796193	Missense_Mutation	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10	22452724	43796193	34281055	82	2676											
PHLPP1	23239	hgsc.bcm.edu	37	18	60646284	60646284	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr18:60646284G>T	ENST00000262719.5	+	17	5008	c.4774G>T	c.(4774-4776)Gat>Tat	p.D1592Y	PHLPP1_ENST00000400316.4_Missense_Mutation_p.D1080Y			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1592					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						AGAGGCCAGTGATGAGGGCAT	0.632																																																0													34	39	38					18																	60646284		2098	4215	6313	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4774G>T	chr18.hg19:g.60646284G>T	ENSP00000262719:p.Asp1592Tyr		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	hg19	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720529	0.68959	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.27890	1.78;1.64	4.18	4.18	0.49190	.	.	.	.	.	T	0.38241	0.1033	N	0.22421	0.69	0.54753	D	0.999982	D	0.67145	0.996	P	0.59703	0.862	T	0.40813	-0.9543	9	0.72032	D	0.01	-19.3796	16.6946	0.85332	0.0:0.0:1.0:0.0	.	1592	O60346	PHLP1_HUMAN	Y	1080;1592	ENSP00000383170:D1080Y;ENSP00000262719:D1592Y	ENSP00000262719:D1592Y	D	+	1	0	PHLPP1	58797264	1.000000	0.71417	0.948000	0.38648	0.894000	0.52154	5.705000	0.68355	2.173000	0.68751	0.561000	0.74099	GAT		0.632	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		T	60646284	G	T	60646284	3	4	37	1	0	0	0	0	1	0	0	0	11856	1290	45	4	4840	4	PHLPP1	18	60646284	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	16850091	60646284	17430964	83	2677											
VAV1	7409	hgsc.bcm.edu	37	19	6854009	6854009	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:6854009C>T	ENST00000602142.1	+	26	2466	c.2384C>T	c.(2383-2385)gCc>gTc	p.A795V	VAV1_ENST00000599806.1_Missense_Mutation_p.A740V|VAV1_ENST00000596764.1_Missense_Mutation_p.A763V|VAV1_ENST00000539284.1_Missense_Mutation_p.A698V|VAV1_ENST00000304076.2_Missense_Mutation_p.A773V	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	795	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GACTTCTGCGCCCGAGACCGA	0.547																																																0													110	99	103					19																	6854009		2203	4300	6503	SO:0001583	missense	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2384C>T	chr19.hg19:g.6854009C>T	ENSP00000472929:p.Ala795Val		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	hg19	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720792	0.89205	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T	0.59083	0.29	4.35	4.35	0.52113	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.90977	3.165	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.998;0.999;0.988;0.981	D	0.84741	0.0751	10	0.66056	D	0.02	.	14.4087	0.67101	0.0:1.0:0.0:0.0	.	698;795;740;795	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	V	795;698	ENSP00000443242:A698V	ENSP00000302269:A795V	A	+	2	0	VAV1	6805009	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.530000	0.73816	2.278000	0.76064	0.561000	0.74099	GCC		0.547	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			T	6854009	C	T	6854009	3	4	37	1	0	0	0	0	1	0	0	0	17136	739	26	2	2486	2	VAV1	19	6854009	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10		6854009	52274974	84	2678											
C19orf57	79173	hgsc.bcm.edu	37	19	14004035	14004035	+	Splice_Site	SNP	A	A	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:14004035A>G	ENST00000586783.1	-	3	207	c.208T>C	c.(208-210)Tcc>Ccc	p.S70P	C19orf57_ENST00000454313.1_Splice_Site_p.S70P|C19orf57_ENST00000346736.2_Splice_Site_p.S70P|C19orf57_ENST00000591586.1_Splice_Site_p.S70P			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	70					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCATCAGGGGAGCTATGTAGG	0.587																																																0													37	37	37					19																	14004035		2201	4296	6497	SO:0001630	splice_region_variant	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.207-1T>C	chr19.hg19:g.14004035A>G			Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	hg19		.	.	.	.	.	.	.	.	.	.	A	13.17	2.155863	0.38021	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.36878	1.23;1.23	3.65	2.63	0.31362	.	1.390520	0.05098	N	0.486553	T	0.46678	0.1405	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.24368	-1.0162	10	0.52906	T	0.07	-2.3155	5.53	0.16978	0.87:0.0:0.13:0.0	.	70	Q0VDD7-2	.	P	70	ENSP00000404382:S70P;ENSP00000254336:S70P	ENSP00000254336:S70P	S	-	1	0	C19orf57	13865035	0.805000	0.28982	0.068000	0.19968	0.011000	0.07611	1.213000	0.32407	0.587000	0.29643	0.459000	0.35465	TCC		0.587	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323	Missense_Mutation	G	14004035	A	G	14004035	5	3	37	1	0	0	0	0	0	0	1	0	1941	318	11	3	1725	3	C19orf57	19	14004035	Splice_Site	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10	7150026	14004035	45124948	85	2679	34	2									
C19orf57	79173	hgsc.bcm.edu	37	19	14004037	14004037	+	Splice_Site	SNP	C	C	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:14004037C>T	ENST00000586783.1	-	3	206		c.e3-1		C19orf57_ENST00000454313.1_Splice_Site|C19orf57_ENST00000346736.2_Splice_Site|C19orf57_ENST00000591586.1_Splice_Site			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57						multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ATCAGGGGAGCTATGTAGGAA	0.587																																																0													37	37	37					19																	14004037		2201	4296	6497	SO:0001630	splice_region_variant	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.207-1G>A	chr19.hg19:g.14004037C>T			Q13411|Q8N825|Q96D63|Q9BU49	Splice_Site	SNP	ENST00000586783.1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.753	1.167971	0.21621	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	.	.	.	3.41	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5024	0.44813	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf57	13865037	1.000000	0.71417	0.114000	0.21550	0.016000	0.09150	2.959000	0.49153	1.917000	0.55516	0.561000	0.74099	.		0.587	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323	Intron	T	14004037	C	T	14004037	5	4	37	1	0	0	0	0	0	0	1	0	1941	811	28	2	1727	2	C19orf57	19	14004037	Splice_Site	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	2	14004037	45124946	86	2680	34	2									
ISYNA1	51477	hgsc.bcm.edu	37	19	18545729	18545729	+	Silent	SNP	G	G	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:18545729G>T	ENST00000338128.8	-	11	1888	c.1671C>A	c.(1669-1671)acC>acA	p.T557T	ISYNA1_ENST00000578963.1_Silent_p.T429T|ISYNA1_ENST00000545187.1_Silent_p.T407T|ISYNA1_ENST00000457269.4_Silent_p.T503T|ISYNA1_ENST00000317018.6_Silent_p.T355T	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	557					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GGCCTCAGGTGGTGGGCATTG	0.617																																																0													47	53	51					19																	18545729		2203	4300	6503	SO:0001819	synonymous_variant	51477				CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"myo-inositol 1-phosphate synthase"	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.1671C>A	chr19.hg19:g.18545729G>T			B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	hg19	CCDS12379.1																																																																																				0.617	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		T	18545729	G	T	18545729	2	4	37	1	0	0	0	0	0	0	0	1	7869	1335	47	4		4	ISYNA1	19	18545729	Silent	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	4541692	18545729	40583254	87	2681											
ZNF536	9745	hgsc.bcm.edu	37	19	30935607	30935607	+	Silent	SNP	C	C	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:30935607C>A	ENST00000355537.3	+	2	1285	c.1138C>A	c.(1138-1140)Cgg>Agg	p.R380R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	380					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GATCTGCGGCCGGCGCTTCAA	0.597																																																0													66	71	70					19																	30935607		2203	4300	6503	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1138C>A	chr19.hg19:g.30935607C>A			A2RU18	Silent	SNP	ENST00000355537.3	hg19	CCDS32984.1																																																																																				0.597	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		A	30935607	C	A	30935607	2	1	37	1	0	0	0	0	0	0	0	1	17979	643	23	4		4	ZNF536	19	30935607	Silent	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	12389878	30935607	28193376	88	2682											
ECH1	1891	hgsc.bcm.edu	37	19	39321795	39321795	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:39321795T>G	ENST00000221418.4	-	3	504	c.272A>C	c.(271-273)gAg>gCg	p.E91A	ECH1_ENST00000597805.1_5'UTR|AC104534.3_ENST00000594769.1_Missense_Mutation_p.S261R	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	91					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GTTGAAGCACTCTACCATCTC	0.522																																																0													131	117	122					19																	39321795		2203	4300	6503	SO:0001583	missense	1891			U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"enoyl Coenzyme A hydratase 1, peroxisomal"			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.272A>C	chr19.hg19:g.39321795T>G	ENSP00000221418:p.Glu91Ala		A8K745|Q8WVX0|Q96EZ9	Missense_Mutation	SNP	ENST00000221418.4	hg19	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.180975	0.57800	.	.	ENSG00000104823	ENST00000221418	T	0.70045	-0.45	5.73	4.71	0.59529	Crotonase, core (1);	0.403282	0.26631	N	0.023320	T	0.65933	0.2739	N	0.20610	0.595	0.54753	D	0.999986	D;P	0.64830	0.994;0.586	D;P	0.65573	0.936;0.477	T	0.63616	-0.6597	10	0.34782	T	0.22	.	9.8374	0.40977	0.1601:0.0:0.0:0.8399	.	91;91	B4DVS4;Q13011	.;ECH1_HUMAN	A	91	ENSP00000221418:E91A	ENSP00000221418:E91A	E	-	2	0	ECH1	44013635	0.977000	0.34250	0.983000	0.44433	0.956000	0.61745	1.856000	0.39389	0.983000	0.38602	0.533000	0.62120	GAG		0.522	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1			G	39321795	T	G	39321795	3	3	37	1	0	0	0	0	1	0	0	0	4894	1551	54	5	746	5	ECH1	19	39321795	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	8386188	39321795	19807188	89	2683											
MAP3K10	4294	hgsc.bcm.edu	37	19	40721175	40721175	+	Silent	SNP	G	G	C			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:40721175G>C	ENST00000253055.3	+	10	3129	c.2841G>C	c.(2839-2841)ctG>ctC	p.L947L		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	947					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAGTGCCCCTGTGCGGGGCCC	0.701																																																0													7	5	6					19																	40721175		2053	4054	6107	SO:0001819	synonymous_variant	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2841G>C	chr19.hg19:g.40721175G>C			Q12761|Q14871	Silent	SNP	ENST00000253055.3	hg19	CCDS12549.1																																																																																				0.701	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		C	40721175	G	C	40721175	2	2	37	1	0	0	0	0	0	0	0	1	9246	1364	48	4		4	MAP3K10	19	40721175	Silent	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	1399380	40721175	18407808	90	2684											
CEACAM5	1048	hgsc.bcm.edu	37	19	42219064	42219064	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:42219064T>A	ENST00000221992.6	+	3	713	c.599T>A	c.(598-600)cTc>cAc	p.L200H	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.L200H|CEACAM5_ENST00000398599.4_Missense_Mutation_p.L200H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	200	Ig-like 2.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AACAGGACCCTCACTCTATTC	0.517																																																0													184	167	173					19																	42219064		2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.599T>A	chr19.hg19:g.42219064T>A	ENSP00000221992:p.Leu200His		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	hg19	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	7.761	0.705442	0.15172	.	.	ENSG00000105388	ENST00000221992;ENST00000405816	T;T	0.09630	2.96;2.96	2.94	2.94	0.34122	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44307	0.1287	H	0.97635	4.045	0.24084	N	0.995938	D;B;D	0.89917	1.0;0.277;1.0	D;P;D	0.97110	1.0;0.619;1.0	T	0.37478	-0.9704	9	0.87932	D	0	.	7.7048	0.28644	0.0:0.0:0.0:1.0	.	200;200;200	Q8N4D0;P06731;Q53G30	.;CEAM5_HUMAN;.	H	200	ENSP00000221992:L200H;ENSP00000385072:L200H	ENSP00000221992:L200H	L	+	2	0	CEACAM5	46910904	1.000000	0.71417	0.973000	0.42090	0.044000	0.14063	3.332000	0.52083	1.133000	0.42147	0.164000	0.16699	CTC		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		A	42219064	T	A	42219064	3	1	37	1	0	0	0	0	1	0	0	0	3197	1551	54	5	609	5	CEACAM5	19	42219064	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	1497889	42219064	16909919	91	2685											
SYMPK	8189	hgsc.bcm.edu	37	19	46324744	46324744	+	Splice_Site	SNP	C	C	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:46324744C>T	ENST00000245934.7	-	22	3036		c.e22-1		SYMPK_ENST00000598155.1_Splice_Site	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin						cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TTTCCCTCACCTGCAGCAGGC	0.557																																																0													105	83	90					19																	46324744		2203	4300	6503	SO:0001630	splice_region_variant	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2792-1G>A	chr19.hg19:g.46324744C>T			O00521|O00689|O00733|Q59GT5|Q8N2U5	Splice_Site	SNP	ENST00000245934.7	hg19	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553529	0.45487	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2551	0.66045	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYMPK	51016584	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	6.903000	0.75703	2.228000	0.72767	0.555000	0.69702	.		0.557	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	Intron	T	46324744	C	T	46324744	5	4	37	1	0	0	0	0	0	0	1	0	15444	695	24	2	1057	2	SYMPK	19	46324744	Splice_Site	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	4105680	46324744	12804239	92	2686											
PPP5C	5536	hgsc.bcm.edu	37	19	46888119	46888119	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:46888119T>A	ENST00000012443.4	+	7	960	c.857T>A	c.(856-858)cTt>cAt	p.L286H	PPP5C_ENST00000391919.1_Missense_Mutation_p.L158H|AC007193.9_ENST00000599645.1_RNA	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	286	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ATCCTCACCCTTTTCGGCTTC	0.527																																																0													130	108	116					19																	46888119		2203	4300	6503	SO:0001583	missense	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.857T>A	chr19.hg19:g.46888119T>A	ENSP00000012443:p.Leu286His		Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	hg19	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336873	0.81801	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.14144	2.53;2.53	4.59	4.59	0.56863	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.144822	0.46758	D	0.000266	T	0.59197	0.2176	H	0.99937	4.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.77413	-0.2597	10	0.87932	D	0	-8.0808	11.9499	0.52948	0.0:0.0:0.0:1.0	.	144;286;286	B7Z1I1;B2R6R6;P53041	.;.;PPP5_HUMAN	H	286;273;158	ENSP00000012443:L286H;ENSP00000375786:L158H	ENSP00000012443:L286H	L	+	2	0	PPP5C	51579959	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.482000	0.81143	1.706000	0.51276	0.402000	0.26972	CTT		0.527	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		A	46888119	T	A	46888119	3	1	37	1	0	0	0	0	1	0	0	0	12411	1609	56	5	883	5	PPP5C	19	46888119	Missense_Mutation	SNP	T	TCGA-5P-A9KA-01A-11D-A42J-10	563375	46888119	12240864	93	2687											
CD33	945	hgsc.bcm.edu	37	19	51728819	51728820	+	Frame_Shift_Ins	INS	-	-	T	rs267605608|rs34919259	byFrequency	TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:51728819_51728820insT	ENST00000262262.4	+	2	404_405	c.383_384insT	c.(382-387)agttacfs	p.Y129fs	CD33_ENST00000391796.3_Frame_Shift_Ins_p.Y129fs|CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	129	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ACCAAATACAGTTACAAATCTC	0.53																																																0																																										SO:0001589	frameshift_variant	945			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.385dupT	chr19.hg19:g.51728821_51728821dupT	ENSP00000262262:p.Tyr129fs		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Frame_Shift_Ins	INS	ENST00000262262.4	hg19	CCDS33084.1																																																																																				0.53	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		T	51728820	-	T	51728819	7	5	37	1	0	1	1	0	0	0	0	0	3007	1029	36	0	389	0	CD33	19	51728819	Frame_Shift_Ins	INS	-	TCGA-5P-A9KA-01A-11D-A42J-10	4840700	51728819	7400164	94	2688											
PPP2R1A	5518	hgsc.bcm.edu	37	19	52719042	52719042	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr19:52719042C>T	ENST00000322088.6	+	7	876	c.818C>T	c.(817-819)gCa>gTa	p.A273V	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A94V|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A218V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	273	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCCAGAAAGCAGTGGGGCCT	0.577			Mis		clear cell ovarian carcinoma																																		Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0													60	59	60					19																	52719042		2203	4300	6503	SO:0001583	missense	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.818C>T	chr19.hg19:g.52719042C>T	ENSP00000324804:p.Ala273Val		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	hg19	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975313	0.74360	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.04234	3.67;3.67	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.07818	0.0196	M	0.71581	2.175	0.80722	D	1	P;B;B	0.40144	0.704;0.012;0.012	B;B;B	0.33196	0.159;0.007;0.007	T	0.10753	-1.0616	10	0.49607	T	0.09	-6.7782	15.501	0.75698	0.0:1.0:0.0:0.0	.	218;273;273	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	V	263;193;273;218	ENSP00000324804:A273V;ENSP00000415067:A218V	ENSP00000324804:A273V	A	+	2	0	PPP2R1A	57410854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.796000	0.75145	2.595000	0.87683	0.655000	0.94253	GCA		0.577	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		T	52719042	C	T	52719042	3	4	37	1	0	0	0	0	1	0	0	0	12387	710	25	2	844	2	PPP2R1A	19	52719042	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10	990223	52719042	6409941	95	2689											
SDCBP2	27111	hgsc.bcm.edu	37	20	1293357	1293357	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr20:1293357C>A	ENST00000360779.3	-	6	607	c.434G>T	c.(433-435)gGg>gTg	p.G145V	SDCBP2_ENST00000339987.3_Missense_Mutation_p.G145V|SDCBP2_ENST00000467129.1_5'Flank|SDCBP2_ENST00000381812.1_Missense_Mutation_p.G145V|SDCBP2_ENST00000381808.3_Missense_Mutation_p.G60V	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	145	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						AAAGCGCAGCCCCACAAGGGA	0.637																																																0													55	52	53					20																	1293357		2203	4300	6503	SO:0001583	missense	27111			AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.434G>T	chr20.hg19:g.1293357C>A	ENSP00000354013:p.Gly145Val		O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Missense_Mutation	SNP	ENST00000360779.3	hg19	CCDS42848.1	.	.	.	.	.	.	.	.	.	.	c	14.90	2.672885	0.47781	.	.	ENSG00000125775	ENST00000381812;ENST00000381808;ENST00000360779;ENST00000339987	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.51	3.56	0.40772	PDZ/DHR/GLGF (4);	0.126644	0.53938	D	0.000055	D	0.93631	0.7966	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95321	0.8420	10	0.87932	D	0	-8.1802	13.8898	0.63731	0.1538:0.8462:0.0:0.0	.	145	Q9H190	SDCB2_HUMAN	V	145;60;145;145	ENSP00000371233:G145V;ENSP00000371229:G60V;ENSP00000354013:G145V;ENSP00000342935:G145V	ENSP00000342935:G145V	G	-	2	0	SDCBP2	1241357	1.000000	0.71417	0.988000	0.46212	0.165000	0.22458	7.545000	0.82128	1.212000	0.43366	-0.314000	0.08810	GGG		0.637	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077513.2	NM_080489		A	1293357	C	A	1293357	3	1	37	1	0	0	0	0	1	0	0	0	13962	623	22	4	460	4	SDCBP2	20	1293357	Missense_Mutation	SNP	C	TCGA-5P-A9KA-01A-11D-A42J-10		1293357	61732163	96	2690											
EMILIN3	90187	hgsc.bcm.edu	37	20	39990966	39990966	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr20:39990966G>T	ENST00000332312.3	-	4	1435	c.1243C>A	c.(1243-1245)Ccg>Acg	p.P415T		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	415						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TCCCCGGCCGGGGCACCGGGG	0.652																																																0													42	48	46					20																	39990966		2203	4300	6503	SO:0001583	missense	90187			AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1243C>A	chr20.hg19:g.39990966G>T	ENSP00000332806:p.Pro415Thr		Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	hg19	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.832401	0.00579	.	.	ENSG00000183798	ENST00000332312	T	0.13089	2.62	5.14	0.703	0.18116	.	1.249350	0.05414	N	0.543007	T	0.12008	0.0292	L	0.44542	1.39	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.36890	-0.9729	9	.	.	.	-1.804	4.9083	0.13809	0.0688:0.1239:0.4241:0.3832	.	415	Q9NT22	EMIL3_HUMAN	T	415	ENSP00000332806:P415T	.	P	-	1	0	EMILIN3	39424380	0.293000	0.24371	0.000000	0.03702	0.005000	0.04900	2.297000	0.43593	0.181000	0.19994	-0.264000	0.10439	CCG		0.652	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		T	39990966	G	T	39990966	3	4	37	1	0	0	0	0	1	0	0	0	5097	1232	43	4	1061	4	EMILIN3	20	39990966	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10	38697609	39990966	23034554	97	2691											
SIK1	150094	hgsc.bcm.edu	37	21	44838412	44838412	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr21:44838412A>T	ENST00000270162.6	-	12	1604	c.1472T>A	c.(1471-1473)gTc>gAc	p.V491D		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	491					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GGAGGGGGAGACGACTATACC	0.637																																																0													27	30	29					21																	44838412		2202	4300	6502	SO:0001583	missense	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1472T>A	chr21.hg19:g.44838412A>T	ENSP00000270162:p.Val491Asp		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	hg19	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.245017	0.39697	.	.	ENSG00000142178	ENST00000270162	T	0.73575	-0.76	4.79	4.79	0.61399	.	0.429630	0.24920	N	0.034556	T	0.67998	0.2953	L	0.50333	1.59	0.21553	N	0.999647	P	0.46395	0.877	B	0.38562	0.276	T	0.64896	-0.6299	10	0.49607	T	0.09	.	14.3387	0.66608	1.0:0.0:0.0:0.0	.	491	P57059	SIK1_HUMAN	D	491	ENSP00000270162:V491D	ENSP00000270162:V491D	V	-	2	0	SIK1	43662840	1.000000	0.71417	0.004000	0.12327	0.159000	0.22180	5.993000	0.70616	1.790000	0.52503	0.533000	0.62120	GTC		0.637	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		T	44838412	A	T	44838412	3	4	37	1	0	0	0	0	1	0	0	0	14323	275	10	5	891	5	SIK1	21	44838412	Missense_Mutation	SNP	A	TCGA-5P-A9KA-01A-11D-A42J-10		44838412	3291483	98	2692											
TST	7263	hgsc.bcm.edu	37	22	37407323	37407323	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KA-01A-11D-A42J-10	TCGA-5P-A9KA-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1e5c321a-1ec5-43d8-a9ce-dea256ce836f	88f8e541-dd2d-4548-bad0-c30265b48b79	g.chr22:37407323G>T	ENST00000403892.3	-	2	1373	c.639C>A	c.(637-639)ttC>ttA	p.F213L	Y_RNA_ENST00000516603.1_RNA|TST_ENST00000249042.3_Missense_Mutation_p.F213L	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	213	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GGAAGTCCATGAAAGGCATGT	0.582																																																0													55	45	49					22																	37407323		2203	4300	6503	SO:0001583	missense	7263			Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.639C>A	chr22.hg19:g.37407323G>T	ENSP00000385828:p.Phe213Leu		B3KRM1|Q6IB06	Missense_Mutation	SNP	ENST00000403892.3	hg19	CCDS13938.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481640	0.63849	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912	T;T	0.38240	1.15;1.15	5.08	4.07	0.47477	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.52980	0.1768	M	0.75447	2.3	0.58432	D	0.999997	P	0.50943	0.94	P	0.62014	0.897	T	0.53669	-0.8406	10	0.51188	T	0.08	-4.9919	8.164	0.31215	0.289:0.0:0.711:0.0	.	213	Q16762	THTR_HUMAN	L	213	ENSP00000385828:F213L;ENSP00000249042:F213L	ENSP00000249042:F213L	F	-	3	2	TST	35737269	0.999000	0.42202	0.977000	0.42913	0.767000	0.43475	2.480000	0.45206	1.366000	0.46076	0.655000	0.94253	TTC		0.582	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			T	37407323	G	T	37407323	3	4	37	1	0	0	0	0	1	0	0	0	16678	1281	45	4	258	4	TST	22	37407323	Missense_Mutation	SNP	G	TCGA-5P-A9KA-01A-11D-A42J-10		37407323	13897243	99	2693											
MTOR	2475	hgsc.bcm.edu	37	1	11269473	11269473	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr1:11269473G>T	ENST00000361445.4	-	25	3773	c.3697C>A	c.(3697-3699)Cag>Aag	p.Q1233K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1233					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATCCGATGCTGGTAAATCAAA	0.468																																																0													260	247	251					1																	11269473		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3697C>A	chr1.hg19:g.11269473G>T	ENSP00000354558:p.Gln1233Lys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	hg19	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601119	0.28534	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.66638	-0.22	5.78	5.78	0.91487	Armadillo-type fold (1);	0.202762	0.43919	D	0.000504	T	0.57169	0.2035	L	0.36672	1.1	0.80722	D	1	B	0.13594	0.008	B	0.14578	0.011	T	0.55082	-0.8196	10	0.07175	T	0.84	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	1233	P42345	MTOR_HUMAN	K	1233	ENSP00000354558:Q1233K	ENSP00000354558:Q1233K	Q	-	1	0	MTOR	11192060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.599000	0.82757	2.733000	0.93635	0.561000	0.74099	CAG		0.468	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11269473	G	T	11269473	3	4	38	1	0	0	0	0	1	0	0	0	9956	1357	47	4	4088	4	MTOR	1	11269473	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10		11269473	237981148	1	2694											
FAM131C	348487	hgsc.bcm.edu	37	1	16388654	16388654	+	Missense_Mutation	SNP	C	C	T	rs374242693		TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr1:16388654C>T	ENST00000375662.4	-	4	391	c.208G>A	c.(208-210)Gac>Aac	p.D70N	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	70								p.D70N(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GATCTGGAGTCGGACAGGTAG	0.652																																																1	Substitution - Missense(1)	large_intestine(1)						C	ASN/ASP	0,4104		0,0,2052	77	78	78		208	0.4	1	1		78	2,8368		0,2,4183	no	missense	FAM131C	NM_182623.2	23	0,2,6235	TT,TC,CC		0.0239,0.0,0.016	benign	70/281	16388654	2,12472	2052	4185	6237	SO:0001583	missense	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.208G>A	chr1.hg19:g.16388654C>T	ENSP00000364814:p.Asp70Asn		Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	ENST00000375662.4	hg19	CCDS41270.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755733	0.31046	0.0	2.39E-4	ENSG00000185519	ENST00000375662	T	0.15256	2.44	4.64	0.426	0.16479	.	0.428262	0.22187	N	0.063432	T	0.13670	0.0331	L	0.60455	1.87	0.29394	N	0.862426	B	0.21309	0.054	B	0.12156	0.007	T	0.11036	-1.0604	10	0.37606	T	0.19	.	4.7214	0.12920	0.0:0.5558:0.1572:0.287	.	70	Q96AQ9	F131C_HUMAN	N	70	ENSP00000364814:D70N	ENSP00000364814:D70N	D	-	1	0	FAM131C	16261241	0.075000	0.21258	0.966000	0.40874	0.854000	0.48673	0.068000	0.14531	0.057000	0.16193	-0.379000	0.06801	GAC		0.652	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		T	16388654	C	T	16388654	3	4	38	1	0	0	0	0	1	0	0	0	5443	884	31	1	650	1	FAM131C	1	16388654	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	5119181	16388654	232861967	2	2695											
HP1BP3	50809	hgsc.bcm.edu	37	1	21091954	21091954	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr1:21091954C>T	ENST00000312239.5	-	8	945	c.806G>A	c.(805-807)cGc>cAc	p.R269H	HP1BP3_ENST00000375003.2_Missense_Mutation_p.R117H	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	269	H15 2. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TTCACAAAGGCGAGTAAAGGC	0.418																																																0													123	118	120					1																	21091954		2203	4300	6503	SO:0001583	missense	50809			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.806G>A	chr1.hg19:g.21091954C>T	ENSP00000312625:p.Arg269His		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	hg19	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599025	0.87055	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003;ENST00000419948;ENST00000438032;ENST00000424732	T;T;T;T;T	0.22336	1.98;1.98;1.98;1.98;1.96	6.1	5.19	0.71726	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.045842	0.85682	D	0.000000	T	0.40094	0.1103	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.945	T	0.26018	-1.0115	10	0.87932	D	0	-0.8069	15.6469	0.77063	0.0:0.9343:0.0:0.0657	.	231;269	Q5SSJ5-2;Q5SSJ5	.;HP1B3_HUMAN	H	269;231;117;128;269;231	ENSP00000312625:R269H;ENSP00000364142:R117H;ENSP00000391721:R128H;ENSP00000403039:R269H;ENSP00000402754:R231H	ENSP00000312625:R269H	R	-	2	0	HP1BP3	20964541	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.997000	0.70646	1.593000	0.50029	0.650000	0.86243	CGC		0.418	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		T	21091954	C	T	21091954	3	4	38	1	0	0	0	0	1	0	0	0	7330	768	27	1	879	1	HP1BP3	1	21091954	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	4703300	21091954	228158667	3	2696											
COL8A2	1296	hgsc.bcm.edu	37	1	36564328	36564328	+	Silent	SNP	T	T	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr1:36564328T>G	ENST00000397799.1	-	4	1178	c.954A>C	c.(952-954)ccA>ccC	p.P318P	COL8A2_ENST00000303143.4_Silent_p.P318P|COL8A2_ENST00000481785.1_Silent_p.P253P			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	318	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGCAGTCCTGGCATCCCAT	0.716																																																0													10	12	12					1																	36564328		2039	4085	6124	SO:0001819	synonymous_variant	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.954A>C	chr1.hg19:g.36564328T>G			Q5JV31|Q8TEJ5	Silent	SNP	ENST00000397799.1	hg19	CCDS403.1																																																																																				0.716	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		G	36564328	T	G	36564328	2	3	38	1	0	0	0	0	0	0	0	1	3708	1567	55	5		5	COL8A2	1	36564328	Silent	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	15472374	36564328	212686293	4	2697											
TYW3	127253	hgsc.bcm.edu	37	1	75199100	75199100	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr1:75199100C>T	ENST00000370867.3	+	1	261	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	CRYZ_ENST00000370872.3_5'Flank|CRYZ_ENST00000417775.1_5'Flank|CRYZ_ENST00000340866.5_5'Flank|TYW3_ENST00000457880.2_Missense_Mutation_p.R58W|CRYZ_ENST00000370871.3_5'Flank|TYW3_ENST00000421739.2_Missense_Mutation_p.R58W|TYW3_ENST00000479111.1_5'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	58					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.R58W(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						ACTCCTTGACCGGGTGAGGCC	0.567																																																1	Substitution - Missense(1)	prostate(1)											74	65	68					1																	75199100		2203	4300	6503	SO:0001583	missense	127253			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"chromosome 1 open reading frame 171"	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.172C>T	chr1.hg19:g.75199100C>T	ENSP00000359904:p.Arg58Trp		B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	hg19	CCDS666.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689848	0.48097	.	.	ENSG00000162623	ENST00000457880;ENST00000370867;ENST00000421739	T;T	0.30981	1.51;1.51	5.03	2.11	0.27256	tRNA wybutosine-synthesizing protein (2);	0.702089	0.14447	N	0.318982	T	0.23532	0.0569	L	0.50333	1.59	0.24118	N	0.995819	D;D;D	0.63046	0.99;0.992;0.989	B;P;P	0.49301	0.417;0.498;0.606	T	0.13019	-1.0525	10	0.72032	D	0.01	-0.7708	16.5745	0.84633	0.0:0.5347:0.4653:0.0	.	58;58;58	B4DFU6;E9PGR7;Q6IPR3	.;.;TYW3_HUMAN	W	58	ENSP00000407025:R58W;ENSP00000359904:R58W	ENSP00000359904:R58W	R	+	1	2	TYW3	74971688	0.849000	0.29639	0.878000	0.34440	0.268000	0.26511	0.521000	0.22893	0.288000	0.22398	-0.228000	0.12330	CGG		0.567	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		T	75199100	C	T	75199100	3	4	38	1	0	0	0	0	1	0	0	0	16825	643	23	1	174	1	TYW3	1	75199100	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	38634772	75199100	174051521	5	2698											
GDAP2	54834	hgsc.bcm.edu	37	1	118420722	118420723	+	Frame_Shift_Ins	INS	-	-	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr1:118420722_118420723insT	ENST00000369443.5	-	13	1603_1604	c.1354_1355insA	c.(1354-1356)atcfs	p.I452fs	GDAP2_ENST00000369442.3_Frame_Shift_Ins_p.I452fs	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	452	CRAL-TRIO.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CACATGGTGGATTTTGTCCTTC	0.401																																																0																																										SO:0001589	frameshift_variant	54834			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.1355dupA	chr1.hg19:g.118420726_118420726dupT	ENSP00000358451:p.Ile452fs		Q96DZ0	Frame_Shift_Ins	INS	ENST00000369443.5	hg19	CCDS897.1																																																																																				0.401	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		T	118420723	-	T	118420722	7	5	38	1	0	1	1	0	0	0	0	0	6311	333	12	0	191	0	GDAP2	1	118420722	Frame_Shift_Ins	INS	-	TCGA-5P-A9KC-01A-11D-A42J-10	43221622	118420722	130829899	6	2699											
PSMD4	5710	hgsc.bcm.edu	37	1	151238063	151238063	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr1:151238063G>T	ENST00000368884.3	+	6	712	c.632G>T	c.(631-633)aGt>aTt	p.S211I	PSMD4_ENST00000368881.4_Missense_Mutation_p.S211I	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	211					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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTAGATCCCAGTGCTGATCCT	0.507																																																0													84	76	79					1																	151238063		2203	4300	6503	SO:0001583	missense	5710			U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"Proteasome (prosome, macropain) subunits"	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.632G>T	chr1.hg19:g.151238063G>T	ENSP00000357879:p.Ser211Ile		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	hg19	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414949	0.83449	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T	0.15834	2.39;2.39	5.7	5.7	0.88788	Ubiquitin interacting motif (3);	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	M	0.65677	2.01	0.58432	D	0.999998	D;D	0.55172	0.97;0.97	P;P	0.60473	0.875;0.875	T	0.02668	-1.1126	10	0.87932	D	0	-15.2977	19.4422	0.94825	0.0:0.0:1.0:0.0	.	211;211	Q5VWC4;P55036	.;PSMD4_HUMAN	I	211;211;196	ENSP00000357879:S211I;ENSP00000357876:S211I	ENSP00000357876:S211I	S	+	2	0	PSMD4	149504687	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.403000	0.73264	2.688000	0.91661	0.655000	0.94253	AGT		0.507	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		T	151238063	G	T	151238063	3	4	38	1	0	0	0	0	1	0	0	0	12705	1029	36	4	654	4	PSMD4	1	151238063	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	32817341	151238063	98012558	7	2700											
SMG7	9887	hgsc.bcm.edu	37	1	183520249	183520249	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr1:183520249G>A	ENST00000347615.2	+	21	3343	c.3224G>A	c.(3223-3225)aGc>aAc	p.S1075N	SMG7_ENST00000507469.1_Missense_Mutation_p.S1079N|SMG7_ENST00000515829.2_Missense_Mutation_p.S1029N|SMG7_ENST00000508461.1_Missense_Mutation_p.S1083N|SMG7_ENST00000367537.3_Missense_Mutation_p.S1108N|SMG7_ENST00000456731.2_Missense_Mutation_p.S987N	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1075					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CATCAGGCCAGCACTCCGAGT	0.493																																																0													77	71	73					1																	183520249		2203	4300	6503	SO:0001583	missense	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3224G>A	chr1.hg19:g.183520249G>A	ENSP00000340766:p.Ser1075Asn		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	hg19	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922705	0.52653	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.20463	2.11;2.09;2.11;2.11;2.07;2.11	5.34	4.43	0.53597	.	0.231216	0.52532	N	0.000077	T	0.10208	0.0250	N	0.19112	0.55	0.37364	D	0.911351	B;B;B;B;B	0.32245	0.181;0.079;0.13;0.181;0.361	B;B;B;B;B	0.27076	0.014;0.021;0.076;0.024;0.054	T	0.09465	-1.0673	10	0.02654	T	1	-2.1512	10.3745	0.44075	0.1495:0.0:0.8505:0.0	.	1083;987;1029;1075;1079	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	N	987;1108;1083;1075;1079;1029	ENSP00000407629:S987N;ENSP00000356507:S1108N;ENSP00000426915:S1083N;ENSP00000340766:S1075N;ENSP00000425133:S1079N;ENSP00000421358:S1029N	ENSP00000340766:S1075N	S	+	2	0	SMG7	181786872	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.986000	0.63851	1.373000	0.46208	0.650000	0.86243	AGC		0.493	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		A	183520249	G	A	183520249	3	1	38	1	0	0	0	0	1	0	0	0	14804	971	34	2	3460	2	SMG7	1	183520249	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	32282186	183520249	65730372	8	2701											
CAMK1G	57172	hgsc.bcm.edu	37	1	209778922	209778922	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr1:209778922G>C	ENST00000009105.1	+	5	583	c.338G>C	c.(337-339)gGt>gCt	p.G113A	CAMK1G_ENST00000361322.2_Missense_Mutation_p.G113A			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTGGAGCGGGGTGTCTACACA	0.493																																					Ovarian(163;530 1939 9680 28669 48710)											0													146	135	139					1																	209778922		2203	4300	6503	SO:0001583	missense	57172				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.338G>C	chr1.hg19:g.209778922G>C	ENSP00000009105:p.Gly113Ala		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	hg19	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184022	0.94885	.	.	ENSG00000008118	ENST00000009105;ENST00000423146;ENST00000361322	T;T;T	0.46063	0.88;1.64;0.88	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000035	T	0.66036	0.2749	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77004	0.956;0.989	T	0.68614	-0.5362	10	0.87932	D	0	.	19.4188	0.94712	0.0:0.0:1.0:0.0	.	113;113	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	A	113	ENSP00000009105:G113A;ENSP00000392173:G113A;ENSP00000354861:G113A	ENSP00000009105:G113A	G	+	2	0	CAMK1G	207845545	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.507000	0.97996	2.664000	0.90586	0.655000	0.94253	GGT		0.493	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		C	209778922	G	C	209778922	3	2	38	1	0	0	0	0	1	0	0	0	2600	1261	44	4	352	4	CAMK1G	1	209778922	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	26258673	209778922	39471699	9	2702											
RHOU	58480	hgsc.bcm.edu	37	1	228879035	228879035	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr1:228879035G>A	ENST00000366691.3	+	3	991	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GTTGCAGGATGAATTTGACAA	0.448																																																0													190	199	196					1																	228879035		2203	4300	6503	SO:0001583	missense	58480				CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"Ryu GTPase", "Wnt-1 responsive Cdc42 homolog", "2310026M05Rik", "GTP-binding protein like 1", "CDC42-like GTPase", "GTP-binding protein SB128", "ras-like gene family member U"	606366	"ras homolog gene family, member U"	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.325G>A	chr1.hg19:g.228879035G>A	ENSP00000355652:p.Glu109Lys			Missense_Mutation	SNP	ENST00000366691.3	hg19	CCDS1575.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860283	0.91433	.	.	ENSG00000116574	ENST00000366691	T	0.77489	-1.1	4.73	4.73	0.59995	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.50919	1.6	0.80722	D	1	B	0.29508	0.246	B	0.40285	0.325	T	0.80020	-0.1557	10	0.87932	D	0	.	15.2086	0.73198	0.0:0.0:1.0:0.0	.	109	Q7L0Q8	RHOU_HUMAN	K	109	ENSP00000355652:E109K	ENSP00000355652:E109K	E	+	1	0	RHOU	226945658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.690000	0.84178	2.439000	0.82584	0.655000	0.94253	GAA		0.448	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205		A	228879035	G	A	228879035	3	1	38	1	0	0	0	0	1	0	0	0	13351	1291	45	2	335	2	RHOU	1	228879035	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	19100113	228879035	20371586	10	2703											
KIF26B	55083	hgsc.bcm.edu	37	1	245850297	245850297	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr1:245850297G>A	ENST00000407071.2	+	12	4452	c.4012G>A	c.(4012-4014)Gac>Aac	p.D1338N	KIF26B_ENST00000366518.4_Missense_Mutation_p.D957N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1338					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGCCAGCCCCGACAACTTGCT	0.567																																																0													49	54	52					1																	245850297		2051	4213	6264	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4012G>A	chr1.hg19:g.245850297G>A	ENSP00000385545:p.Asp1338Asn		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	hg19	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091651	0.36952	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.79940	-1.32;-1.31	5.82	3.94	0.45596	.	.	.	.	.	T	0.74122	0.3675	L	0.43152	1.355	0.21386	N	0.9997	B;B	0.16396	0.017;0.004	B;B	0.08055	0.003;0.002	T	0.65294	-0.6203	9	0.51188	T	0.08	.	11.8996	0.52675	0.1401:0.0:0.8599:0.0	.	957;1338	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	1338;957;954	ENSP00000385545:D1338N;ENSP00000355475:D957N	ENSP00000355475:D957N	D	+	1	0	KIF26B	243916920	0.992000	0.36948	0.356000	0.25785	0.517000	0.34286	3.275000	0.51639	1.462000	0.47948	0.561000	0.74099	GAC		0.567	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		A	245850297	G	A	245850297	3	1	38	1	0	0	0	0	1	0	0	0	8297	1058	37	1	4058	1	KIF26B	1	245850297	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	16971262	245850297	3400324	11	2704											
LPIN1	23175	hgsc.bcm.edu	37	2	11959665	11959665	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr2:11959665delA	ENST00000256720.2	+	18	2443	c.2350delA	c.(2350-2352)aaafs	p.K784fs	LPIN1_ENST00000449576.2_Frame_Shift_Del_p.K869fs|LPIN1_ENST00000396099.1_Frame_Shift_Del_p.K826fs|LPIN1_ENST00000396097.1_Frame_Shift_Del_p.K514fs|LPIN1_ENST00000425416.2_Frame_Shift_Del_p.K790fs|LPIN1_ENST00000404113.2_Frame_Shift_Del_p.K285fs	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	784	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GACAGACATCAAAAACCTGTT	0.373																																																0													170	175	173					2																	11959665		2203	4300	6503	SO:0001589	frameshift_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2350delA	chr2.hg19:g.11959665delA	ENSP00000256720:p.Lys784fs		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Frame_Shift_Del	DEL	ENST00000256720.2	hg19	CCDS1682.1																																																																																				0.373	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		-	11959665	A	-	11959665	7	5	38	1	0	1	0	1	0	0	0	0	8920	131	5	0	2416	0	LPIN1	2	11959665	Frame_Shift_Del	DEL	A	TCGA-5P-A9KC-01A-11D-A42J-10		11959665	231239708	12	2705											
PUM2	23369	hgsc.bcm.edu	37	2	20482914	20482914	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr2:20482914T>C	ENST00000361078.2	-	11	1536	c.1514A>G	c.(1513-1515)cAg>cGg	p.Q505R	PUM2_ENST00000536417.1_Missense_Mutation_p.Q449R|PUM2_ENST00000319801.5_Missense_Mutation_p.Q505R|PUM2_ENST00000403432.1_Missense_Mutation_p.Q505R|PUM2_ENST00000338086.5_Missense_Mutation_p.Q505R			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	505					regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGGTGGCTGAGTGCCAAT	0.453																																																0													71	75	73					2																	20482914		2203	4300	6503	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1514A>G	chr2.hg19:g.20482914T>C	ENSP00000354370:p.Gln505Arg		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	hg19		.	.	.	.	.	.	.	.	.	.	T	15.48	2.844781	0.51164	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.19532	2.17;2.45;2.4;2.14;2.17;2.16	6.03	4.81	0.61882	.	0.059994	0.64402	D	0.000002	T	0.33818	0.0876	L	0.43923	1.385	0.51012	D	0.999907	B;D;B	0.54601	0.005;0.967;0.016	B;D;B	0.65140	0.008;0.932;0.017	T	0.01557	-1.1325	10	0.26408	T	0.33	-4.0585	13.0341	0.58860	0.0:0.0:0.1341:0.8659	.	449;505;505	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	R	505;505;505;396;505;449	ENSP00000338173:Q505R;ENSP00000354370:Q505R;ENSP00000326746:Q505R;ENSP00000409905:Q396R;ENSP00000385992:Q505R;ENSP00000440093:Q449R	ENSP00000326746:Q505R	Q	-	2	0	PUM2	20346395	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.965000	0.49200	2.313000	0.78055	0.454000	0.30748	CAG		0.453	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		C	20482914	T	C	20482914	3	2	38	1	0	0	0	0	1	0	0	0	12832	1580	55	3	1720	3	PUM2	2	20482914	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	8523249	20482914	222716459	13	2706											
CIB4	130106	hgsc.bcm.edu	37	2	26805731	26805731	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr2:26805731C>G	ENST00000288861.4	-	6	542	c.489G>C	c.(487-489)gaG>gaC	p.E163D	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	163	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGTTCAAACTCTGAGAAGG	0.547																																																0													144	110	121					2																	26805731		2203	4300	6503	SO:0001583	missense	130106				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"EF-hand domain containing"	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.489G>C	chr2.hg19:g.26805731C>G	ENSP00000288861:p.Glu163Asp		B2RU18	Missense_Mutation	SNP	ENST00000288861.4	hg19	CCDS33160.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.479953	0.63849	.	.	ENSG00000157884	ENST00000288861;ENST00000403670;ENST00000405346	D	0.84370	-1.84	5.29	5.29	0.74685	EF-hand-like domain (1);	0.000000	0.64402	D	0.000013	D	0.90484	0.7019	M	0.69248	2.105	0.44366	D	0.997261	D	0.63880	0.993	D	0.72982	0.979	D	0.88822	0.3299	10	0.31617	T	0.26	.	14.503	0.67734	0.0:1.0:0.0:0.0	.	163	A0PJX0	CIB4_HUMAN	D	163;118;165	ENSP00000288861:E163D	ENSP00000288861:E163D	E	-	3	2	CIB4	26659235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.684000	0.37649	2.491000	0.84063	0.650000	0.86243	GAG		0.547	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324709.1			G	26805731	C	G	26805731	3	3	38	1	0	0	0	0	1	0	0	0	3425	564	20	4	76	4	CIB4	2	26805731	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	6322817	26805731	216393642	14	2707											
SNX17	9784	hgsc.bcm.edu	37	2	27596784	27596784	+	Silent	SNP	G	G	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr2:27596784G>C	ENST00000233575.2	+	5	600	c.378G>C	c.(376-378)ggG>ggC	p.G126G	SNX17_ENST00000537606.1_Silent_p.G101G|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	126	FERM-like.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCAACGGGCAGAAAGTTC	0.562																																																0													127	108	114					2																	27596784		2203	4300	6503	SO:0001819	synonymous_variant	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.378G>C	chr2.hg19:g.27596784G>C			B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	ENST00000233575.2	hg19	CCDS1750.1																																																																																				0.562	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		C	27596784	G	C	27596784	2	2	38	1	0	0	0	0	0	0	0	1	14894	1190	42	4		4	SNX17	2	27596784	Silent	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	791053	27596784	215602589	15	2708											
CNTNAP5	129684	hgsc.bcm.edu	37	2	125320891	125320891	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr2:125320891T>A	ENST00000431078.1	+	11	2108	c.1744T>A	c.(1744-1746)Tgc>Agc	p.C582S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	582	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGTGCCACCTGCCACAACTG	0.483																																																0													36	39	38					2																	125320891		1938	4153	6091	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1744T>A	chr2.hg19:g.125320891T>A	ENSP00000399013:p.Cys582Ser		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.851039	0.91277	.	.	ENSG00000155052	ENST00000431078	D	0.84730	-1.89	6.07	6.07	0.98685	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000043	D	0.96037	0.8709	H	0.99435	4.565	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97784	1.0234	10	0.72032	D	0.01	.	15.4647	0.75390	0.0:0.0:0.0:1.0	.	582	Q8WYK1	CNTP5_HUMAN	S	582	ENSP00000399013:C582S	ENSP00000399013:C582S	C	+	1	0	CNTNAP5	125037361	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.316000	0.79007	2.326000	0.78906	0.533000	0.62120	TGC		0.483	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125320891	T	A	125320891	3	1	38	1	0	0	0	0	1	0	0	0	3652	1580	55	5	1786	5	CNTNAP5	2	125320891	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	97724107	125320891	117878482	16	2709											
UBR3	130507	hgsc.bcm.edu	37	2	170871867	170871867	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr2:170871867T>C	ENST00000272793.5	+	30	4494	c.4444T>C	c.(4444-4446)Tct>Cct	p.S1482P	UBR3_ENST00000392631.1_Missense_Mutation_p.S303P|UBR3_ENST00000465630.1_3'UTR|UBR3_ENST00000418381.1_Missense_Mutation_p.S1482P			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1482					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGGCAAAAGGTCTTGTTTAAG	0.318																																																0													80	83	82					2																	170871867		2203	4300	6503	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4444T>C	chr2.hg19:g.170871867T>C	ENSP00000272793:p.Ser1482Pro		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	hg19		.	.	.	.	.	.	.	.	.	.	T	21.0	4.083095	0.76642	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	L	0.59436	1.845	0.48452	D	0.999656	D;D;D	0.76494	0.998;0.999;0.995	D;D;D	0.80764	0.986;0.994;0.979	T	0.76906	-0.2786	10	0.35671	T	0.21	.	16.05	0.80749	0.0:0.0:0.0:1.0	.	1482;303;1482	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	P	1482;1482;1482;303;153	ENSP00000272793:S1482P;ENSP00000396068:S1482P;ENSP00000376408:S303P;ENSP00000389097:S153P	ENSP00000272793:S1482P	S	+	1	0	UBR3	170580113	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.353000	0.79414	2.263000	0.75096	0.533000	0.62120	TCT		0.318	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		C	170871867	T	C	170871867	3	2	38	1	0	0	0	0	1	0	0	0	16908	1667	58	3	4562	3	UBR3	2	170871867	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	45550976	170871867	72327506	17	2710											
CFLAR	8837	hgsc.bcm.edu	37	2	202025647	202025647	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr2:202025647A>G	ENST00000309955.3	+	9	1801	c.1286A>G	c.(1285-1287)cAg>cGg	p.Q429R	CFLAR_ENST00000479953.2_Missense_Mutation_p.Q333R|CFLAR_ENST00000423241.2_Missense_Mutation_p.Q429R|CFLAR_ENST00000457277.1_Missense_Mutation_p.Q429R|CFLAR_ENST00000341582.6_Missense_Mutation_p.Q394R|CFLAR_ENST00000340870.5_Missense_Mutation_p.Q429R|CFLAR_ENST00000443227.1_Missense_Mutation_p.Q333R|CFLAR_ENST00000355558.4_Intron	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	429	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGCCTCTCCCAGAAACTGAGA	0.557																																					Pancreas(16;548 657 22190 32864 42338)											0													38	36	37					2																	202025647		2203	4300	6503	SO:0001583	missense	8837			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.1286A>G	chr2.hg19:g.202025647A>G	ENSP00000312455:p.Gln429Arg		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	hg19	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.809868	0.70797	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06;4.06	5.61	5.61	0.85477	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.249814	0.40144	N	0.001170	T	0.14527	0.0351	M	0.69248	2.105	0.35533	D	0.802442	D;D;D;D	0.76494	0.963;0.99;0.997;0.999	P;P;D;D	0.70227	0.846;0.856;0.918;0.968	T	0.08411	-1.0723	10	0.41790	T	0.15	-21.5966	12.3315	0.55041	0.859:0.141:0.0:0.0	.	333;429;394;429	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	R	429;333;429;315;394;429;429	ENSP00000312455:Q429R;ENSP00000413270:Q333R;ENSP00000339326:Q429R;ENSP00000345807:Q394R;ENSP00000399420:Q429R;ENSP00000411535:Q429R	ENSP00000312455:Q429R	Q	+	2	0	CFLAR	201733892	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	4.249000	0.58766	2.135000	0.66039	0.454000	0.30748	CAG		0.557	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		G	202025647	A	G	202025647	3	3	38	1	0	0	0	0	1	0	0	0	3294	188	7	3	1380	3	CFLAR	2	202025647	Missense_Mutation	SNP	A	TCGA-5P-A9KC-01A-11D-A42J-10	31153780	202025647	41173726	18	2711											
ALS2CR8	79800	hgsc.bcm.edu	37	2	203817333	203817333	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr2:203817333C>T	ENST00000402905.3	+	5	679	c.358C>T	c.(358-360)Cct>Tct	p.P120S	CARF_ENST00000428585.1_Missense_Mutation_p.P44S|CARF_ENST00000414439.1_Missense_Mutation_p.P18S|CARF_ENST00000434998.1_Missense_Mutation_p.P18S|CARF_ENST00000320443.8_Missense_Mutation_p.P120S|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.P44S|CARF_ENST00000456821.2_Missense_Mutation_p.P108S|CARF_ENST00000444724.1_Missense_Mutation_p.P120S|CARF_ENST00000438828.2_Missense_Mutation_p.P120S|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Missense_Mutation_p.P32S	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	120					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTAATTCCACCTACCCAGAC	0.433																																																0													135	124	127					2																	203817333		1865	4114	5979	SO:0001583	missense	79800			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.358C>T	chr2.hg19:g.203817333C>T	ENSP00000384006:p.Pro120Ser		B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	hg19	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	C	2.275	-0.366143	0.05069	.	.	ENSG00000138380	ENST00000402905;ENST00000431787;ENST00000444724;ENST00000414857;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000447539;ENST00000456821;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.24	-0.0813	0.13703	.	0.079962	0.50627	N	0.000102	T	0.03053	0.0090	N	0.00128	-2.045	0.21184	N	0.999761	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.36841	-0.9731	9	0.02654	T	1	-0.7081	2.635	0.04955	0.2506:0.0707:0.1307:0.5481	.	32;44;120;120;120	B4DIA7;G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;.;AL2S8_HUMAN;.	S	120;90;120;120;18;44;32;44;44;108;18;120;120	.	ENSP00000316224:P120S	P	+	1	0	ALS2CR8	203525578	1.000000	0.71417	0.987000	0.45799	0.917000	0.54804	1.699000	0.37804	-0.235000	0.09767	-1.728000	0.00702	CCT		0.433	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		T	203817333	C	T	203817333	3	4	38	1	0	0	0	0	1	0	0	0	555	507	18	2	368	2	ALS2CR8	2	203817333	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	1791686	203817333	39382040	19	2712											
RAF1	5894	hgsc.bcm.edu	37	3	12650333	12650333	+	Missense_Mutation	SNP	T	T	A	rs561163045		TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr3:12650333T>A	ENST00000251849.4	-	5	952	c.513A>T	c.(511-513)aaA>aaT	p.K171N	RAF1_ENST00000442415.2_Missense_Mutation_p.K171N|RAF1_ENST00000542177.1_Missense_Mutation_p.K90N|RAF1_ENST00000534997.1_5'UTR	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	171					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCTCATGAAATTTGTAGCCAC	0.428			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																														Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													137	122	127					3																	12650333		2203	4300	6503	SO:0001583	missense	5894	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.513A>T	chr3.hg19:g.12650333T>A	ENSP00000251849:p.Lys171Asn		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	hg19	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894506	0.72639	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000542177	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.52	1.27	0.21489	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.100276	0.64402	D	0.000003	T	0.80844	0.4701	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.80764	0.994;0.984	T	0.79813	-0.1645	10	0.87932	D	0	.	9.4339	0.38626	0.0:0.3375:0.0:0.6625	.	90;171	B4E0X2;P04049	.;RAF1_HUMAN	N	171;171;83;90	ENSP00000251849:K171N;ENSP00000401888:K171N;ENSP00000398591:K83N;ENSP00000443567:K90N	ENSP00000251849:K171N	K	-	3	2	RAF1	12625333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.110000	0.31147	0.354000	0.24105	0.460000	0.39030	AAA		0.428	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		A	12650333	T	A	12650333	3	1	38	1	0	0	0	0	1	0	0	0	13008	1490	52	5	1485	5	RAF1	3	12650333	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10		12650333	185372097	20	2713											
ZMYND10	51364	hgsc.bcm.edu	37	3	50382584	50382594	+	Frame_Shift_Del	DEL	TGGGCTCGCCC	TGGGCTCGCCC	-			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	TGGGCTCGCCC	TGGGCTCGCCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr3:50382584_50382594delTGGGCTCGCCC	ENST00000231749.3	-	2	1434_1444	c.162_172delGGGCGAGCCCA	c.(160-174)cagggcgagcccattfs	p.QGEPI54fs	ZMYND10_ENST00000490675.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Frame_Shift_Del_p.QGEPI54fs|NPRL2_ENST00000493465.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	54					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCTCCTGAATGGGCTCGCCCTGGCTGACTG	0.607										TSP Lung(30;0.18)																																						0																																										SO:0001589	frameshift_variant	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.162_172delGGGCGAGCCCA	chr3.hg19:g.50382584_50382594delTGGGCTCGCCC	ENSP00000231749:p.Gln54fs		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Frame_Shift_Del	DEL	ENST00000231749.3	hg19	CCDS2825.1																																																																																				0.607	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		-	50382594	TGGGCTCGCCC	-	50382584	7	5	38	1	0	1	0	1	0	0	0	0	17710	1464	51	0	1194	0	ZMYND10	3	50382584	Frame_Shift_Del	DEL	TGGGCTCGCCC	TCGA-5P-A9KC-01A-11D-A42J-10	37732251	50382584	147639846	21	2714	35	2									
ZMYND10	51364	hgsc.bcm.edu	37	3	50382588	50382598	+	Frame_Shift_Del	DEL	CTCGCCCTGGC	CTCGCCCTGGC	-			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	CTCGCCCTGGC	CTCGCCCTGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr3:50382588_50382598delCTCGCCCTGGC	ENST00000231749.3	-	2	1430_1440	c.158_168delGCCAGGGCGAG	c.(157-168)agccagggcgagfs	p.SQGE53fs	ZMYND10_ENST00000490675.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Frame_Shift_Del_p.SQGE53fs|NPRL2_ENST00000493465.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	53					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCTGAATGGGCTCGCCCTGGCTGACTGTGGC	0.602										TSP Lung(30;0.18)																																						0																																										SO:0001589	frameshift_variant	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.158_168delGCCAGGGCGAG	chr3.hg19:g.50382588_50382598delCTCGCCCTGGC	ENSP00000231749:p.Ser53fs		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Frame_Shift_Del	DEL	ENST00000231749.3	hg19	CCDS2825.1																																																																																				0.602	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		-	50382598	CTCGCCCTGGC	-	50382588	7	5	38	1	0	1	0	1	0	0	0	0	17710	796	28	0	1198	0	ZMYND10	3	50382588	Frame_Shift_Del	DEL	CTCGCCCTGGC	TCGA-5P-A9KC-01A-11D-A42J-10	4	50382588	147639842	22	2715	35	2									
ZDHHC23	254887	hgsc.bcm.edu	37	3	113673053	113673053	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr3:113673053G>C	ENST00000330212.3	+	3	967	c.668G>C	c.(667-669)gGg>gCg	p.G223A	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G217A	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	223					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AAGACCAAAGGGTTCCCTGGG	0.562																																																0													95	97	97					3																	113673053		2203	4300	6503	SO:0001583	missense	254887			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.668G>C	chr3.hg19:g.113673053G>C	ENSP00000330485:p.Gly223Ala		D3DN76	Missense_Mutation	SNP	ENST00000330212.3	hg19	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491910	0.26774	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.41400	1.0;1.01	5.64	3.81	0.43845	.	0.364534	0.32687	N	0.005764	T	0.44582	0.1300	L	0.48642	1.525	0.19300	N	0.99997	P	0.52463	0.953	P	0.52454	0.699	T	0.24548	-1.0157	10	0.29301	T	0.29	-14.6686	10.8169	0.46583	0.0706:0.1325:0.7969:0.0	.	223	Q8IYP9	ZDH23_HUMAN	A	223;217	ENSP00000330485:G223A;ENSP00000417840:G217A	ENSP00000330485:G223A	G	+	2	0	ZDHHC23	115155743	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	3.650000	0.54424	1.352000	0.45808	0.561000	0.74099	GGG		0.562	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		C	113673053	G	C	113673053	3	2	38	1	0	0	0	0	1	0	0	0	17619	1232	43	4	674	4	ZDHHC23	3	113673053	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	63290465	113673053	84349377	23	2716											
RAB6B	51560	hgsc.bcm.edu	37	3	133557104	133557104	+	Splice_Site	SNP	C	C	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr3:133557104C>T	ENST00000285208.4	-	6	751		c.e6-1		RAB6B_ENST00000543906.1_Splice_Site|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Splice_Site	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family						GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GGTTATCTGCCTAGAGATGAG	0.592																																																0													112	105	107					3																	133557104		2203	4300	6503	SO:0001630	splice_region_variant	51560			AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"RAB, member RAS oncogene"	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.402-1G>A	chr3.hg19:g.133557104C>T			B2R5Z9|B7Z337|D3DND3|Q92929	Splice_Site	SNP	ENST00000285208.4	hg19	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724693	0.68959	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858;ENST00000477759;ENST00000460865	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9471	0.52934	0.1739:0.8261:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAB6B	135039794	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.013000	0.76373	2.573000	0.86826	0.655000	0.94253	.		0.592	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1		Intron	T	133557104	C	T	133557104	5	4	38	1	0	0	0	0	0	0	1	0	12958	695	24	2	237	2	RAB6B	3	133557104	Splice_Site	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	19884051	133557104	64465326	24	2717											
RNF212	285498	hgsc.bcm.edu	37	4	1066753	1066753	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr4:1066753T>A	ENST00000433731.2	-	10	864	c.803A>T	c.(802-804)cAg>cTg	p.Q268L	RNF212_ENST00000382968.5_3'UTR			Q495C1	RN212_HUMAN	ring finger protein 212	268					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CTCAGCCTGCTGGAACGGAAA	0.478											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													87	90	89					4																	1066753		2203	4300	6503	SO:0001583	missense	285498			AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"RING-type (C3HC4) zinc fingers"	27729	protein-coding gene	gene with protein product		612041	"hypothetical protein LOC285498"	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.803A>T	chr4.hg19:g.1066753T>A	ENSP00000389709:p.Gln268Leu	593	C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	hg19	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	T	7.107	0.575269	0.13623	.	.	ENSG00000178222	ENST00000433731	T	0.51071	0.72	1.17	-2.34	0.06704	.	.	.	.	.	T	0.19485	0.0468	N	0.08118	0	0.09310	N	0.999999	P	0.34977	0.478	B	0.26614	0.071	T	0.08868	-1.0701	9	0.87932	D	0	.	3.1593	0.06515	0.0:0.231:0.4453:0.3237	.	268	Q495C1	RN212_HUMAN	L	268	ENSP00000389709:Q268L	ENSP00000389709:Q268L	Q	-	2	0	RNF212	1056753	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.798000	0.04565	-1.036000	0.03287	-0.331000	0.08364	CAG		0.478	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		A	1066753	T	A	1066753	3	1	38	1	0	0	0	0	1	0	0	0	13482	1580	55	5	94	5	RNF212	4	1066753	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10		1066753	190087523	25	2718											
MTTP	4547	hgsc.bcm.edu	37	4	100534106	100534106	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr4:100534106G>A	ENST00000265517.5	+	15	2229	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T	MTTP_ENST00000457717.1_Missense_Mutation_p.A676T|MTTP_ENST00000511045.1_Missense_Mutation_p.A703T|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	676					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.A676T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AGCCTTAATCGCAGCCACCCC	0.483																																																1	Substitution - Missense(1)	large_intestine(1)											136	134	135					4																	100534106		2203	4300	6503	SO:0001583	missense	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2026G>A	chr4.hg19:g.100534106G>A	ENSP00000265517:p.Ala676Thr		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	hg19	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	36	5.669852	0.96754	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.64991	-0.13;-0.1;-0.1	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76751	0.4031	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.914;0.996	T	0.70000	-0.4992	10	0.18276	T	0.48	-15.6636	19.7133	0.96105	0.0:0.0:1.0:0.0	.	703;676	E9PBP6;P55157	.;MTP_HUMAN	T	703;676;676	ENSP00000427679:A703T;ENSP00000400821:A676T;ENSP00000265517:A676T	ENSP00000265517:A676T	A	+	1	0	MTTP	100753129	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.307000	0.96226	2.659000	0.90383	0.650000	0.86243	GCA		0.483	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			A	100534106	G	A	100534106	3	1	38	1	0	0	0	0	1	0	0	0	9966	1087	38	1	2084	1	MTTP	4	100534106	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	99467353	100534106	90620170	26	2719											
ELOVL6	79071	hgsc.bcm.edu	37	4	110980893	110980894	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr4:110980893_110980894delCG	ENST00000394607.3	-	4	401_402	c.238_239delCG	c.(238-240)cgafs	p.R80fs	ELOVL6_ENST00000506461.1_5'UTR|ELOVL6_ENST00000302274.3_Frame_Shift_Del_p.R80fs			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	80					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		AGCACCAGTTCGAAGAGCACCG	0.401																																																0																																										SO:0001589	frameshift_variant	79071			AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.238_239delCG	chr4.hg19:g.110980893_110980894delCG	ENSP00000378105:p.Arg80fs		Q4W5L0|Q8NCD1	Frame_Shift_Del	DEL	ENST00000394607.3	hg19	CCDS3690.1																																																																																				0.401	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		-	110980894	CG	-	110980893	7	5	38	1	0	1	0	1	0	0	0	0	5080	884	31	0	566	0	ELOVL6	4	110980893	Frame_Shift_Del	DEL	CG	TCGA-5P-A9KC-01A-11D-A42J-10	10446787	110980893	80173383	27	2720											
PDCD6	10016	hgsc.bcm.edu	37	5	306756	306756	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr5:306756G>C	ENST00000264933.4	+	4	348	c.248G>C	c.(247-249)aGc>aCc	p.S83T	AHRR_ENST00000316418.5_Intron|AHRR_ENST00000505113.1_Intron|PDCD6_ENST00000507528.1_Missense_Mutation_p.S83T|AHRR_ENST00000512529.1_Intron|PDCD6_ENST00000505221.1_Intron	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6	83	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			GTGAACTTCAGCGAGTTCACG	0.537																																																0													95	79	84					5																	306756		2203	4300	6503	SO:0001583	missense	10016			AF035606	CCDS3854.1, CCDS58940.1, CCDS58941.1, CCDS75222.1, CCDS75223.1	5p15.33	2013-01-10			ENSG00000249915	ENSG00000249915		"EF-hand domain containing"	8765	protein-coding gene	gene with protein product	"apoptosis-linked gene-2"	601057				8560270	Standard	NM_013232		Approved	ALG-2, PEF1B	uc003jat.1	O75340	OTTHUMG00000090283	ENST00000264933.4:c.248G>C	chr5.hg19:g.306756G>C	ENSP00000264933:p.Ser83Thr		B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000264933.4	hg19	CCDS3854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	5.045|5.045	0.193946|0.193946	0.09599|0.09599	.|.	.|.	ENSG00000249915|ENSG00000249915	ENST00000502359|ENST00000264933;ENST00000507528	.|T;T	.|0.78481	.|-1.18;-1.18	5.53|5.53	3.75|3.75	0.43078|0.43078	.|EF-hand-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.57873|0.57873	0.2083|0.2083	N|N	0.16567|0.16567	0.415|0.415	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.002	T|T	0.43956|0.43956	-0.9359|-0.9359	5|9	.|0.21014	.|T	.|0.42	.|.	6.1331|6.1331	0.20217|0.20217	0.1641:0.1548:0.6811:0.0|0.1641:0.1548:0.6811:0.0	.|.	.|83;83	.|Q2YDC2;O75340	.|.;PDCD6_HUMAN	P|T	14|83	.|ENSP00000264933:S83T;ENSP00000423815:S83T	.|ENSP00000264933:S83T	A|S	+|+	1|2	0|0	PDCD6|PDCD6	359756|359756	0.978000|0.978000	0.34361|0.34361	0.971000|0.971000	0.41717|0.41717	0.011000|0.011000	0.07611|0.07611	2.062000|2.062000	0.41413|0.41413	0.703000|0.703000	0.31848|0.31848	-0.127000|-0.127000	0.14921|0.14921	GCG|AGC		0.537	PDCD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206609.2	NM_013232		C	306756	G	C	306756	3	2	38	1	0	0	0	0	1	0	0	0	11625	971	34	4	262	4	PDCD6	5	306756	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10		306756	180608504	28	2721											
FASTKD3	79072	hgsc.bcm.edu	37	5	7867443	7867443	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr5:7867443T>C	ENST00000264669.5	-	2	890	c.754A>G	c.(754-756)Acc>Gcc	p.T252A	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	252					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCTCCGGGGTAAATGTTTCC	0.363																																																0													79	84	82					5																	7867443		2202	4300	6502	SO:0001583	missense	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.754A>G	chr5.hg19:g.7867443T>C	ENSP00000264669:p.Thr252Ala		Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	hg19	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	T	9.962	1.223021	0.22457	.	.	ENSG00000124279	ENST00000264669	T	0.23552	1.9	4.85	-3.71	0.04424	.	0.721105	0.14271	N	0.330147	T	0.09423	0.0232	N	0.13235	0.315	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38112	-0.9676	10	0.07482	T	0.82	-1.8934	6.0475	0.19768	0.1224:0.3502:0.0:0.5273	.	252	Q14CZ7	FAKD3_HUMAN	A	252	ENSP00000264669:T252A	ENSP00000264669:T252A	T	-	1	0	FASTKD3	7920443	0.617000	0.27043	0.000000	0.03702	0.742000	0.42306	0.512000	0.22755	-0.538000	0.06281	0.528000	0.53228	ACC		0.363	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		C	7867443	T	C	7867443	3	2	38	1	0	0	0	0	1	0	0	0	5689	1638	57	3	1258	3	FASTKD3	5	7867443	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	7560687	7867443	173047817	29	2722											
FYB	2533	hgsc.bcm.edu	37	5	39153579	39153579	+	Silent	SNP	G	G	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr5:39153579G>T	ENST00000351578.6	-	3	1453	c.1263C>A	c.(1261-1263)ccC>ccA	p.P421P	FYB_ENST00000505428.1_Silent_p.P421P|FYB_ENST00000515010.1_Silent_p.P421P|FYB_ENST00000512982.1_Silent_p.P421P|FYB_ENST00000540520.1_Silent_p.P431P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	421	Interaction with SKAP1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TAATGTTTCTGGGAGGTAGGC	0.488																																																0													291	298	296					5																	39153579		2025	4174	6199	SO:0001819	synonymous_variant	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1263C>A	chr5.hg19:g.39153579G>T			A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	hg19	CCDS47200.1																																																																																				0.488	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		T	39153579	G	T	39153579	2	4	38	1	0	0	0	0	0	0	0	1	6126	1335	47	4		4	FYB	5	39153579	Silent	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	31286136	39153579	141761681	30	2723											
GNB2L1	10399	hgsc.bcm.edu	37	5	180670768	180670768	+	Silent	SNP	G	G	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr5:180670768G>C	ENST00000512805.1	-	1	441	c.33C>G	c.(31-33)ctC>ctG	p.L11L	SNORD95_ENST00000579879.1_RNA|GNB2L1_ENST00000456394.2_Silent_p.L11L|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000376817.4_Silent_p.L11L|GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000504726.1_Silent_p.L11L|CTC-338M12.4_ENST00000506340.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|GNB2L1_ENST00000511566.1_Silent_p.L11L|GNB2L1_ENST00000511900.1_Silent_p.L11L	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	11					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		TGTGGCCCTTGAGGGTGCCAC	0.597																																																0													107	78	88					5																	180670768		2203	4300	6503	SO:0001819	synonymous_variant	10399			M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"WD repeat domain containing"	4399	protein-coding gene	gene with protein product	"Receptor for Activated C Kinase 1"	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.33C>G	chr5.hg19:g.180670768G>C			B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Silent	SNP	ENST00000512805.1	hg19	CCDS34324.1																																																																																				0.597	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372943.2	NM_006098		C	180670768	G	C	180670768	2	2	38	1	0	0	0	0	0	0	0	1	6520	1277	45	4		4	GNB2L1	5	180670768	Silent	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	141517189	180670768	244492	31	2724											
TMEM170B	100113407	hgsc.bcm.edu	37	6	11575790	11575797	+	Stop_Codon_Del	DEL	TTTGAGGT	TTTGAGGT	-			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	TTTGAGGT	TTTGAGGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr6:11575790_11575797delTTTGAGGT	ENST00000379426.1	+	0	395_402				TMEM170B_ENST00000543875.1_Stop_Codon_Del	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B							integral component of membrane (GO:0016021)				large_intestine(3)|lung(5)	8						CTCGCTACACTTTGAGGTTTCTGTGGGA	0.442																																																0																																										SO:0001567	stop_retained_variant	100113407				CCDS43425.1	6p24.1	2008-08-08			ENSG00000205269	ENSG00000205269			34244	protein-coding gene	gene with protein product							Standard	NM_001100829		Approved		uc010jpa.4	Q5T4T1	OTTHUMG00000014259	Exception_encountered	chr6.hg19:g.11575790_11575797delTTTGAGGT	ENSP00000368737:p.*133Trpext*16			Frame_Shift_Del	DEL	ENST00000379426.1	hg19	CCDS43425.1																																																																																				0.442	TMEM170B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000039862.1	NM_001100829		-	11575797	TTTGAGGT	-	11575790	7	5	38	1	0	1	0	1	0	0	0	0	16092	1609	56	0	405	0	TMEM170B	6	11575790	Stop_Codon_Del	DEL	TTTGAGGT	TCGA-5P-A9KC-01A-11D-A42J-10		11575790	159539277	32	2725											
ATXN1	6310	hgsc.bcm.edu	37	6	16328017	16328017	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr6:16328017C>G	ENST00000244769.4	-	8	1461	c.525G>C	c.(523-525)gaG>gaC	p.E175D	ATXN1_ENST00000436367.1_Missense_Mutation_p.E175D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	175					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGAATAGGCCTCCAGCTGGG	0.662																																																0													33	37	36					6																	16328017		2195	4282	6477	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.525G>C	chr6.hg19:g.16328017C>G	ENSP00000244769:p.Glu175Asp		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	hg19	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169241	0.57584	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.50277	0.75;0.75	5.26	3.47	0.39725	.	0.105649	0.64402	D	0.000007	T	0.23249	0.0562	M	0.63843	1.955	0.42281	D	0.992091	B	0.25441	0.126	B	0.16289	0.015	T	0.08229	-1.0732	10	0.16420	T	0.52	-30.305	11.2182	0.48838	0.0:0.8513:0.0:0.1487	.	175	P54253	ATX1_HUMAN	D	175	ENSP00000244769:E175D;ENSP00000416360:E175D	ENSP00000244769:E175D	E	-	3	2	ATXN1	16435996	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.505000	0.45424	1.211000	0.43351	0.467000	0.42956	GAG		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		G	16328017	C	G	16328017	3	3	38	1	0	0	0	0	1	0	0	0	1209	680	24	4	1930	4	ATXN1	6	16328017	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	4752227	16328017	154787050	33	2726											
C6orf222	389384	hgsc.bcm.edu	37	6	36291122	36291122	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr6:36291122G>C	ENST00000437635.2	-	8	1596	c.1419C>G	c.(1417-1419)agC>agG	p.S473R		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	473										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGGGCAGAAAGCTGGGCCTCT	0.622																																																0													86	97	93					6																	36291122		2203	4300	6503	SO:0001583	missense	389384				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1419C>G	chr6.hg19:g.36291122G>C	ENSP00000418983:p.Ser473Arg		B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	hg19	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958254	0.53400	.	.	ENSG00000189325	ENST00000437635	T	0.55930	0.49	4.68	2.88	0.33553	.	0.339819	0.25964	N	0.027169	T	0.50188	0.1601	M	0.74258	2.255	0.26291	N	0.978125	D	0.57571	0.98	P	0.60068	0.868	T	0.38993	-0.9635	10	0.56958	D	0.05	-16.2355	6.0853	0.19964	0.2203:0.0:0.7797:0.0	.	473	P0C671	CF222_HUMAN	R	473	ENSP00000418983:S473R	ENSP00000418983:S473R	S	-	3	2	C6orf222	36399100	0.989000	0.36119	0.953000	0.39169	0.456000	0.32438	1.288000	0.33296	1.274000	0.44362	0.655000	0.94253	AGC		0.622	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		C	36291122	G	C	36291122	3	2	38	1	0	0	0	0	1	0	0	0	2358	962	34	4	559	4	C6orf222	6	36291122	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	19963105	36291122	134823945	34	2727											
NFYA	4800	hgsc.bcm.edu	37	6	41051876	41051876	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr6:41051876G>A	ENST00000341376.6	+	4	455	c.254G>A	c.(253-255)gGa>gAa	p.G85E	NFYA_ENST00000353205.5_Missense_Mutation_p.G56E|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	85	Gln-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCCCTGGTGGACAAGGTCAA	0.473																																																0													102	78	86					6																	41051876		2203	4300	6503	SO:0001583	missense	4800				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.254G>A	chr6.hg19:g.41051876G>A	ENSP00000345702:p.Gly85Glu		Q8IXU0	Missense_Mutation	SNP	ENST00000341376.6	hg19	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888578	0.72524	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.76	4.89	0.63831	.	0.046056	0.85682	D	0.000000	T	0.44095	0.1277	L	0.55481	1.735	0.58432	D	0.999995	B;B	0.30236	0.274;0.057	B;B	0.18871	0.023;0.01	T	0.53809	-0.8386	9	0.72032	D	0.01	-8.7123	16.2087	0.82144	0.0:0.1331:0.8669:0.0	.	56;85	P23511-2;P23511	.;NFYA_HUMAN	E	85;56	.	ENSP00000345702:G85E	G	+	2	0	NFYA	41159854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.792000	0.99085	1.552000	0.49463	0.650000	0.86243	GGA		0.473	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			A	41051876	G	A	41051876	3	1	38	1	0	0	0	0	1	0	0	0	10391	1174	41	2	264	2	NFYA	6	41051876	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	4760754	41051876	130063191	35	2728											
HCRTR2	3062	hgsc.bcm.edu	37	6	55145137	55145137	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr6:55145137G>A	ENST00000370862.3	+	6	1336	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	334					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.A334S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGGATGTTTGCCCATACTGA	0.368																																																1	Substitution - Missense(1)	lung(1)											216	207	210					6																	55145137		2203	4300	6503	SO:0001583	missense	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1000G>A	chr6.hg19:g.55145137G>A	ENSP00000359899:p.Ala334Thr		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	hg19	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	2.547	-0.304921	0.05495	.	.	ENSG00000137252	ENST00000370862	T	0.61392	0.11	5.62	-3.24	0.05094	GPCR, rhodopsin-like superfamily (1);	0.482845	0.24143	N	0.041156	T	0.12008	0.0292	N	0.05441	-0.05	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.39143	-0.9628	10	0.13108	T	0.6	.	12.8352	0.57770	0.6041:0.0:0.3959:0.0	.	334	O43614	OX2R_HUMAN	T	334	ENSP00000359899:A334T	ENSP00000359899:A334T	A	+	1	0	HCRTR2	55253096	0.385000	0.25172	0.674000	0.29902	0.116000	0.19942	0.901000	0.28445	-0.455000	0.07054	-0.385000	0.06624	GCC		0.368	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			A	55145137	G	A	55145137	3	1	38	1	0	0	0	0	1	0	0	0	7004	1319	46	2	1022	2	HCRTR2	6	55145137	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	14093261	55145137	115969930	36	2729											
SMAP1	60682	hgsc.bcm.edu	37	6	71508431	71508431	+	Silent	SNP	A	A	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr6:71508431A>G	ENST00000370455.3	+	6	815	c.567A>G	c.(565-567)acA>acG	p.T189T	SMAP1_ENST00000370452.3_Silent_p.T162T|SMAP1_ENST00000316999.5_Silent_p.T162T	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	189					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						AACCACTTACAGCTGAAAAGG	0.274																																																0													37	43	41					6																	71508431		2199	4290	6489	SO:0001819	synonymous_variant	60682			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"ADP-ribosylation factor GTPase activating proteins"	19651	protein-coding gene	gene with protein product		611372	"stromal membrane-associated protein 1", "stromal membrane-associated GTPase-activating protein 1"			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.567A>G	chr6.hg19:g.71508431A>G			Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Silent	SNP	ENST00000370455.3	hg19	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	A	9.297	1.052127	0.19827	.	.	ENSG00000112305	ENST00000439432	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	T	0.48624	0.1510	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52358	-0.8586	4	.	.	.	-19.7696	8.9897	0.36017	0.9161:0.0:0.0839:0.0	.	.	.	.	G	64	.	.	S	+	1	0	SMAP1	71565152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.702000	0.37836	2.126000	0.65437	0.529000	0.55759	AGC		0.274	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		G	71508431	A	G	71508431	2	3	38	1	0	0	0	0	0	0	0	1	14772	175	7	3		3	SMAP1	6	71508431	Silent	SNP	A	TCGA-5P-A9KC-01A-11D-A42J-10	16363294	71508431	99606636	37	2730											
SENP6	26054	hgsc.bcm.edu	37	6	76388567	76388567	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr6:76388567T>G	ENST00000447266.2	+	16	2477	c.1999T>G	c.(1999-2001)Tct>Gct	p.S667A	SENP6_ENST00000370010.2_Missense_Mutation_p.S660A|SENP6_ENST00000541192.1_Missense_Mutation_p.S263A|SENP6_ENST00000327284.8_Missense_Mutation_p.S660A|SENP6_ENST00000370014.3_Missense_Mutation_p.S667A	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	667	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GGGAGGCATCTCTGTTACCAA	0.323																																																0													76	74	75					6																	76388567		1851	4085	5936	SO:0001583	missense	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1999T>G	chr6.hg19:g.76388567T>G	ENSP00000402527:p.Ser667Ala		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	hg19	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024669	0.54683	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.67	5.98	5.98	0.97165	.	0.099352	0.64402	D	0.000001	T	0.21881	0.0527	L	0.38838	1.175	0.50313	D	0.999867	B;B;P	0.51653	0.167;0.104;0.947	B;B;P	0.47528	0.127;0.059;0.549	T	0.01039	-1.1472	10	0.38643	T	0.18	-15.2821	16.4622	0.84064	0.0:0.0:0.0:1.0	.	660;667;660	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	A	660;667;660;667;557;263	ENSP00000359027:S660A;ENSP00000359031:S667A;ENSP00000321820:S660A;ENSP00000402527:S667A;ENSP00000391426:S557A;ENSP00000441715:S263A	ENSP00000321820:S660A	S	+	1	0	SENP6	76445287	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.735000	0.62051	2.289000	0.77006	0.533000	0.62120	TCT		0.323	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		G	76388567	T	G	76388567	3	3	38	1	0	0	0	0	1	0	0	0	14056	1551	54	5	2061	5	SENP6	6	76388567	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	4880136	76388567	94726500	38	2731											
SASH1	23328	hgsc.bcm.edu	37	6	148840743	148840743	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr6:148840743C>G	ENST00000367467.3	+	10	1398	c.923C>G	c.(922-924)tCt>tGt	p.S308C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	308					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCCTCTACTCTGGCGTGCAC	0.552																																																0													80	82	81					6																	148840743		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.923C>G	chr6.hg19:g.148840743C>G	ENSP00000356437:p.Ser308Cys		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	hg19	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136995	0.77775	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.40476	1.03	5.43	5.43	0.79202	.	0.113799	0.64402	D	0.000008	T	0.42562	0.1208	L	0.27053	0.805	0.44798	D	0.997802	D;D	0.76494	0.999;0.999	P;D	0.64042	0.862;0.921	T	0.45527	-0.9255	10	0.72032	D	0.01	-8.9095	17.4215	0.87516	0.0:1.0:0.0:0.0	.	289;308	Q6P4R9;O94885	.;SASH1_HUMAN	C	308;69	ENSP00000356437:S308C	ENSP00000356437:S308C	S	+	2	0	SASH1	148882436	1.000000	0.71417	0.638000	0.29380	0.954000	0.61252	7.127000	0.77210	2.548000	0.85928	0.655000	0.94253	TCT		0.552	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		G	148840743	C	G	148840743	3	3	38	1	0	0	0	0	1	0	0	0	13854	913	32	4	961	4	SASH1	6	148840743	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	72452176	148840743	22274324	39	2732											
MEOX2	4223	hgsc.bcm.edu	37	7	15725800	15725800	+	Silent	SNP	G	G	A	rs113582077	byFrequency	TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr7:15725800G>A	ENST00000262041.5	-	1	637	c.228C>T	c.(226-228)caC>caT	p.H76H	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	76	Poly-His.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.H80delH(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ggtggtgatggtggtggtggt	0.612																																					Esophageal Squamous(140;197 1769 16409 18257 29929)											1	Deletion - In frame(1)	stomach(1)											11	13	13					7																	15725800		2192	4293	6485	SO:0001819	synonymous_variant	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.228C>T	chr7.hg19:g.15725800G>A			B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	hg19	CCDS34605.1																																																																																				0.612	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		A	15725800	G	A	15725800	2	1	38	1	0	0	0	0	0	0	0	1	9476	1252	44	2		2	MEOX2	7	15725800	Silent	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10		15725800	143412863	40	2733											
C7orf44	55744	hgsc.bcm.edu	37	7	43679188	43679188	+	Missense_Mutation	SNP	T	T	C	rs537301566		TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr7:43679188T>C	ENST00000395879.1	-	5	2115	c.434A>G	c.(433-435)aAg>aGg	p.K145R	COA1_ENST00000395880.3_Missense_Mutation_p.K145R|COA1_ENST00000310564.6_Missense_Mutation_p.K145R|COA1_ENST00000223336.6_Missense_Mutation_p.K145R|COA1_ENST00000488813.1_5'UTR			Q9GZY4	COA1_HUMAN	cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)	145					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)	cytoplasm (GO:0005737)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)											TCTCTACTCCTTTTTCACTTC	0.517																																																0													169	175	173					7																	43679188		2203	4300	6503	SO:0001583	missense	55744			AK001665	CCDS5471.1	7p13	2012-12-05	2012-10-15	2012-06-25	ENSG00000106603	ENSG00000106603		"Mitochondrial respiratory chain complex assembly factors"	21868	protein-coding gene	gene with protein product		614769	"chromosome 7 open reading frame 44"	C7orf44		22356826	Standard	NM_018224		Approved	FLJ10803, MITRAC15	uc003tin.2	Q9GZY4	OTTHUMG00000128949	ENST00000395879.1:c.434A>G	chr7.hg19:g.43679188T>C	ENSP00000379218:p.Lys145Arg		A6NJU8|A8KAH8|Q9HAB7|Q9NVD2	Missense_Mutation	SNP	ENST00000395879.1	hg19	CCDS5471.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295640	0.23564	.	.	ENSG00000106603	ENST00000395879;ENST00000310564;ENST00000395880;ENST00000223336	.	.	.	3.36	-0.562	0.11781	.	1.528020	0.03663	N	0.242820	T	0.26593	0.0650	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.19321	-1.0309	9	0.49607	T	0.09	0.2435	2.7004	0.05146	0.4087:0.1199:0.0:0.4714	.	145	Q9GZY4	CG044_HUMAN	R	145	.	ENSP00000223336:K145R	K	-	2	0	C7orf44	43645713	0.000000	0.05858	0.005000	0.12908	0.073000	0.16967	-0.710000	0.05024	-0.096000	0.12329	0.533000	0.62120	AAG		0.517	COA1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313664.1	NM_018224		C	43679188	T	C	43679188	3	2	38	1	0	0	0	0	1	0	0	0	2396	1609	56	3	10	3	C7orf44	7	43679188	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	27953388	43679188	115459475	41	2734											
TFPI2	7980	hgsc.bcm.edu	37	7	93519981	93519981	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr7:93519981C>T	ENST00000222543.5	-	1	322	c.10G>A	c.(10-12)Gct>Act	p.A4T	TFPI2_ENST00000545378.1_Missense_Mutation_p.A4T|GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	4					blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AGGGGGCGAGCGGGGTCCATG	0.701																																																0													18	23	22					7																	93519981		2155	4228	6383	SO:0001583	missense	7980			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.10G>A	chr7.hg19:g.93519981C>T	ENSP00000222543:p.Ala4Thr		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	hg19	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	C	9.953	1.220665	0.22457	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.55930	0.65;0.49	3.98	-3.56	0.04626	.	1.700580	0.02712	N	0.112974	T	0.29423	0.0733	N	0.17082	0.46	0.09310	N	1	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.10450	0.001;0.005;0.001	T	0.22382	-1.0218	10	0.06365	T	0.9	.	4.5229	0.11968	0.2394:0.3512:0.0:0.4095	.	4;4;4	Q8NAK6;F5H3J8;P48307	.;.;TFPI2_HUMAN	T	4	ENSP00000222543:A4T;ENSP00000438861:A4T	ENSP00000222543:A4T	A	-	1	0	TFPI2	93357917	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.016000	0.00645	-1.242000	0.02523	-2.185000	0.00314	GCT		0.701	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		T	93519981	C	T	93519981	3	4	38	1	0	0	0	0	1	0	0	0	15814	768	27	1	717	1	TFPI2	7	93519981	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	49840793	93519981	65618682	42	2735											
HBP1	26959	hgsc.bcm.edu	37	7	106829794	106829794	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr7:106829794G>A	ENST00000222574.4	+	7	1009	c.823G>A	c.(823-825)Gag>Aag	p.E275K	HBP1_ENST00000461963.1_Intron|HBP1_ENST00000468410.1_Missense_Mutation_p.E275K|HBP1_ENST00000485846.1_Missense_Mutation_p.E275K	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	275	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						ATCATTTGGCGAGTCTGTACT	0.373																																																0													205	173	183					7																	106829794		2203	4300	6503	SO:0001583	missense	26959			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.823G>A	chr7.hg19:g.106829794G>A	ENSP00000222574:p.Glu275Lys		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	hg19	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707854	0.89018	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.98978	-5.29;-5.29;-5.29	5.94	5.94	0.96194	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.045424	0.85682	D	0.000000	D	0.97882	0.9304	L	0.38531	1.155	0.80722	D	1	P;P;B	0.51537	0.946;0.634;0.146	P;B;B	0.45681	0.49;0.121;0.055	D	0.98523	1.0624	10	0.72032	D	0.01	-5.9607	20.3736	0.98901	0.0:0.0:1.0:0.0	.	285;275;275	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	K	275;275;275;267	ENSP00000420500:E275K;ENSP00000222574:E275K;ENSP00000418738:E275K	ENSP00000222574:E275K	E	+	1	0	HBP1	106617030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.748000	0.74877	2.820000	0.97059	0.650000	0.86243	GAG		0.373	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		A	106829794	G	A	106829794	3	1	38	1	0	0	0	0	1	0	0	0	6987	1059	37	1	845	1	HBP1	7	106829794	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	13309813	106829794	52308869	43	2736											
TMEM176B	28959	hgsc.bcm.edu	37	7	150491072	150491072	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr7:150491072A>G	ENST00000447204.2	-	3	664	c.292T>C	c.(292-294)Tgt>Cgt	p.C98R	TMEM176B_ENST00000492607.1_Missense_Mutation_p.C98R|TMEM176B_ENST00000429904.2_Missense_Mutation_p.C98R|TMEM176B_ENST00000326442.5_Missense_Mutation_p.C98R|TMEM176B_ENST00000450753.2_Intron|TMEM176B_ENST00000434545.1_Missense_Mutation_p.C98R	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	98					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAAGGCACAGCCTGAGGCA	0.572																																																0													204	180	188					7																	150491072		2203	4300	6503	SO:0001583	missense	28959			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.292T>C	chr7.hg19:g.150491072A>G	ENSP00000410269:p.Cys98Arg		B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	hg19	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	a	16.03	3.007339	0.54361	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000528038	T;T;T;T;T	0.02498	4.27;4.27;4.27;4.27;4.27	4.93	3.72	0.42706	.	0.150640	0.45126	D	0.000393	T	0.12135	0.0295	M	0.75447	2.3	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.00220	-1.1906	10	0.87932	D	0	-13.3179	8.7774	0.34769	0.8105:0.1895:0.0:0.0	.	98	Q3YBM2	T176B_HUMAN	R	98	ENSP00000419258:C98R;ENSP00000318409:C98R;ENSP00000410269:C98R;ENSP00000413531:C98R;ENSP00000397810:C98R	ENSP00000318409:C98R	C	-	1	0	TMEM176B	150122005	0.774000	0.28592	0.998000	0.56505	0.758000	0.43043	1.283000	0.33237	1.858000	0.53909	0.446000	0.29264	TGT		0.572	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		G	150491072	A	G	150491072	3	3	38	1	0	0	0	0	1	0	0	0	16098	188	7	3	540	3	TMEM176B	7	150491072	Missense_Mutation	SNP	A	TCGA-5P-A9KC-01A-11D-A42J-10	43661278	150491072	8647591	44	2737											
LPL	4023	hgsc.bcm.edu	37	8	19805804	19805804	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr8:19805804C>T	ENST00000311322.8	+	2	672	c.202C>T	c.(202-204)Cat>Tat	p.H68Y	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	68					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GGCTACCTGTCATTTCAATCA	0.517																																																0													129	111	117					8																	19805804		2203	4300	6503	SO:0001583	missense	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.202C>T	chr8.hg19:g.19805804C>T	ENSP00000309757:p.His68Tyr		B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	hg19	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256638	0.39896	.	.	ENSG00000175445	ENST00000524029;ENST00000522701;ENST00000311322;ENST00000535763	D;D;D	0.90385	-2.66;-2.66;-2.66	5.53	4.57	0.56435	Lipase, N-terminal (1);	0.381500	0.31963	N	0.006798	D	0.86768	0.6012	L	0.28556	0.865	0.30370	N	0.782972	P	0.45011	0.848	P	0.46885	0.53	D	0.88243	0.2911	8	.	.	.	-18.2601	12.3788	0.55295	0.2421:0.7579:0.0:0.0	.	68	P06858	LIPL_HUMAN	Y	68;68;68;54	ENSP00000428237:H68Y;ENSP00000428557:H68Y;ENSP00000309757:H68Y	.	H	+	1	0	LPL	19850084	0.406000	0.25344	1.000000	0.80357	0.178000	0.23041	1.150000	0.31639	2.599000	0.87857	0.655000	0.94253	CAT		0.517	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			T	19805804	C	T	19805804	3	4	38	1	0	0	0	0	1	0	0	0	8923	826	29	2	208	2	LPL	8	19805804	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10		19805804	126558218	45	2738											
PEBP4	157310	hgsc.bcm.edu	37	8	22777789	22777789	+	Missense_Mutation	SNP	T	T	A	rs201637080	byFrequency	TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr8:22777789T>A	ENST00000256404.6	-	3	257	c.166A>T	c.(166-168)Att>Ttt	p.I56F	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	56						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TTGCAGCCAATGTTCCCCAAC	0.537																																																0													78	84	82					8																	22777789		1907	4111	6018	SO:0001583	missense	157310			BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"cousin-of-RKIP 1 protein"	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.166A>T	chr8.hg19:g.22777789T>A	ENSP00000256404:p.Ile56Phe		Q5EVA1|Q8WW74	Missense_Mutation	SNP	ENST00000256404.6	hg19	CCDS43724.1	.	.	.	.	.	.	.	.	.	.	T	9.085	1.000215	0.19121	.	.	ENSG00000134020	ENST00000256404	T	0.49432	0.78	5.75	-5.55	0.02536	.	0.657684	0.14588	N	0.310461	T	0.33990	0.0882	L	0.29908	0.895	0.09310	N	0.999999	P	0.50066	0.931	P	0.47402	0.546	T	0.35822	-0.9773	10	0.54805	T	0.06	-12.6443	7.9829	0.30194	0.0:0.4548:0.2715:0.2737	.	56	Q96S96	PEBP4_HUMAN	F	56	ENSP00000256404:I56F	ENSP00000256404:I56F	I	-	1	0	PEBP4	22833734	0.005000	0.15991	0.016000	0.15963	0.006000	0.05464	-1.156000	0.03160	-1.083000	0.03097	-0.263000	0.10527	ATT		0.537	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		A	22777789	T	A	22777789	3	1	38	1	0	0	0	0	1	0	0	0	11716	1464	51	5	537	5	PEBP4	8	22777789	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	2971985	22777789	123586233	46	2739											
ZNF250	58500	hgsc.bcm.edu	37	8	146106965	146106965	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr8:146106965A>G	ENST00000292579.7	-	6	1734	c.1618T>C	c.(1618-1620)Tgt>Cgt	p.C540R	ZNF250_ENST00000417550.2_Missense_Mutation_p.C535R|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GCACGCCCACACTCCCCGCAC	0.542																																					NSCLC(16;520 556 24096 40084 43446)											0													78	61	67					8																	146106965		2203	4300	6503	SO:0001583	missense	58500			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1618T>C	chr8.hg19:g.146106965A>G	ENSP00000292579:p.Cys540Arg		D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	hg19	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.718818	0.68844	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	D;D	0.85955	-2.05;-2.05	4.06	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000059	D	0.94522	0.8236	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.95711	0.8758	10	0.72032	D	0.01	-18.4303	12.9415	0.58348	1.0:0.0:0.0:0.0	.	535;540	D3DWP1;P15622	.;ZN250_HUMAN	R	540;535;423	ENSP00000292579:C540R;ENSP00000393442:C535R	ENSP00000292579:C540R	C	-	1	0	ZNF250	146077769	0.973000	0.33851	0.998000	0.56505	0.874000	0.50279	4.788000	0.62439	2.077000	0.62373	0.397000	0.26171	TGT		0.542	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		G	146106965	A	G	146106965	3	3	38	1	0	0	0	0	1	0	0	0	17800	159	6	3	68	3	ZNF250	8	146106965	Missense_Mutation	SNP	A	TCGA-5P-A9KC-01A-11D-A42J-10	123329176	146106965	257057	47	2740											
KIAA1432	57589	hgsc.bcm.edu	37	9	5763340	5763340	+	Frame_Shift_Del	DEL	T	T	-			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr9:5763340delT	ENST00000414202.2	+	19	2504	c.2313delT	c.(2311-2313)cctfs	p.P771fs	KIAA1432_ENST00000418622.3_Frame_Shift_Del_p.P692fs|KIAA1432_ENST00000381532.2_Frame_Shift_Del_p.P692fs|KIAA1432_ENST00000251879.6_Frame_Shift_Del_p.P771fs|KIAA1432_ENST00000449720.2_Frame_Shift_Del_p.P655fs	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TCATGCTGCCTTTCCACATCA	0.493																																																0													258	237	244					9																	5763340		2203	4300	6503	SO:0001589	frameshift_variant	57589																														ENST00000414202.2:c.2313delT	chr9.hg19:g.5763340delT	ENSP00000416696:p.Pro771fs			Frame_Shift_Del	DEL	ENST00000414202.2	hg19	CCDS34982.2																																																																																				0.493	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			-	5763340	T	-	5763340	7	5	38	1	0	1	0	1	0	0	0	0	8235	1596	56	0	2146	0	KIAA1432	9	5763340	Frame_Shift_Del	DEL	T	TCGA-5P-A9KC-01A-11D-A42J-10		5763340	135450091	48	2741											
PFKP	5214	hgsc.bcm.edu	37	10	3109839	3109839	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr10:3109839G>A	ENST00000381125.4	+	1	128	c.52G>A	c.(52-54)Gag>Aag	p.E18K	RP11-118K6.3_ENST00000607898.1_lincRNA|PFKP_ENST00000381075.2_5'Flank	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	18	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAAGTTCCTGGAGCACCTCTC	0.746																																																0													4	4	4					10																	3109839		1949	3792	5741	SO:0001583	missense	5214			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.52G>A	chr10.hg19:g.3109839G>A	ENSP00000370517:p.Glu18Lys		B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	hg19	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977986	0.53720	.	.	ENSG00000067057	ENST00000381125	T	0.79940	-1.32	3.84	3.84	0.44239	.	0.305787	0.28718	N	0.014375	T	0.67618	0.2912	N	0.20986	0.625	0.80722	D	1	B	0.13145	0.007	B	0.11329	0.006	T	0.62186	-0.6907	10	0.11485	T	0.65	.	15.7657	0.78126	0.0:0.0:1.0:0.0	.	18	Q01813	K6PP_HUMAN	K	18	ENSP00000370517:E18K	ENSP00000370517:E18K	E	+	1	0	PFKP	3099839	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	6.336000	0.72954	1.876000	0.54355	0.450000	0.29827	GAG		0.746	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		A	3109839	G	A	3109839	3	1	38	1	0	0	0	0	1	0	0	0	11768	1175	41	2	54	2	PFKP	10	3109839	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10		3109839	132424908	49	2742											
POLR3A	11128	hgsc.bcm.edu	37	10	79741958	79741958	+	Missense_Mutation	SNP	G	G	C	rs200705099		TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr10:79741958G>C	ENST00000372371.3	-	28	3850	c.3713C>G	c.(3712-3714)aCa>aGa	p.T1238R		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1238					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CACACCGTGTGTGGCCATGAC	0.557																																																0													178	140	153					10																	79741958		2203	4300	6503	SO:0001583	missense	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3713C>G	chr10.hg19:g.79741958G>C	ENSP00000361446:p.Thr1238Arg		Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	hg19	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837201	0.91117	.	.	ENSG00000148606	ENST00000539141;ENST00000372371;ENST00000540842	T	0.67865	-0.29	5.99	5.99	0.97316	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.82476	0.5045	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	D	0.74674	0.984	T	0.80830	-0.1207	9	.	.	.	-23.5145	20.4488	0.99124	0.0:0.0:1.0:0.0	.	1238	O14802	RPC1_HUMAN	R	54;1238;1217	ENSP00000361446:T1238R	.	T	-	2	0	POLR3A	79411964	1.000000	0.71417	0.953000	0.39169	0.779000	0.44077	9.155000	0.94700	2.843000	0.97960	0.655000	0.94253	ACA		0.557	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		C	79741958	G	C	79741958	3	2	38	1	0	0	0	0	1	0	0	0	12230	1377	48	4	475	4	POLR3A	10	79741958	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	76632119	79741958	55792789	50	2743											
CNNM1	26507	hgsc.bcm.edu	37	10	101090293	101090293	+	Silent	SNP	G	G	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr10:101090293G>C	ENST00000356713.4	+	1	1438	c.1149G>C	c.(1147-1149)gcG>gcC	p.A383A	CNNM1_ENST00000370528.3_Silent_p.A312A|CNNM1_ENST00000370534.4_Silent_p.A18A|CNNM1_ENST00000446890.1_Silent_p.A312A	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	383	DUF21.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGGACTGGGCGCTGCGCCAGG	0.662																																																0													18	16	17					10																	101090293		2202	4294	6496	SO:0001819	synonymous_variant	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1149G>C	chr10.hg19:g.101090293G>C			Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	hg19	CCDS7478.2																																																																																				0.662	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		C	101090293	G	C	101090293	2	2	38	1	0	0	0	0	0	0	0	1	3614	1074	38	4		4	CNNM1	10	101090293	Silent	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	21348335	101090293	34444454	51	2744											
TACC2	10579	hgsc.bcm.edu	37	10	123842717	123842717	+	Silent	SNP	T	T	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr10:123842717T>C	ENST00000369005.1	+	4	1042	c.702T>C	c.(700-702)ttT>ttC	p.F234F	TACC2_ENST00000515603.1_Silent_p.F234F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.F234F|TACC2_ENST00000453444.2_Silent_p.F234F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.F234F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	234					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGGTGGCTTTCCCCCTGCAG	0.627																																																0													31	35	34					10																	123842717		2203	4300	6503	SO:0001819	synonymous_variant	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.702T>C	chr10.hg19:g.123842717T>C			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	hg19	CCDS7626.1																																																																																				0.627	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			C	123842717	T	C	123842717	2	2	38	1	0	0	0	0	0	0	0	1	15507	1780	62	3		3	TACC2	10	123842717	Silent	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	22752424	123842717	11692030	52	2745											
OR5P3	120066	hgsc.bcm.edu	37	11	7846802	7846802	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr11:7846802T>C	ENST00000328375.1	-	1	717	c.718A>G	c.(718-720)Acc>Gcc	p.T240A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGGTGCAGGTGGAGAAGGCC	0.507																																																0													131	110	117					11																	7846802		2190	4296	6486	SO:0001583	missense	120066			AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"GPCR / Class A : Olfactory receptors"	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.718A>G	chr11.hg19:g.7846802T>C	ENSP00000332068:p.Thr240Ala		Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	hg19	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.417992	0.83449	.	.	ENSG00000182334	ENST00000328375	T	0.41065	1.01	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.74245	0.3691	H	0.96365	3.81	0.40222	D	0.977746	D	0.89917	1.0	D	0.97110	1.0	T	0.83182	-0.0088	10	0.87932	D	0	-38.011	12.9161	0.58207	0.0:0.0:0.0:1.0	.	240	Q8WZ94	OR5P3_HUMAN	A	240	ENSP00000332068:T240A	ENSP00000332068:T240A	T	-	1	0	OR5P3	7803378	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.944000	0.70219	2.147000	0.66899	0.528000	0.53228	ACC		0.507	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		C	7846802	T	C	7846802	3	2	38	1	0	0	0	0	1	0	0	0	11181	1696	59	3	220	3	OR5P3	11	7846802	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10		7846802	127159714	53	2746											
TRIM44	54765	hgsc.bcm.edu	37	11	35685224	35685224	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr11:35685224T>A	ENST00000299413.5	+	1	872	c.565T>A	c.(565-567)Tat>Aat	p.Y189N	RP1-276E15.1_ENST00000525573.2_lincRNA	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	189						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TTTGAGTACCTATTGCCAGGA	0.498																																																0													134	122	126					11																	35685224		2202	4298	6500	SO:0001583	missense	54765			BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19016	protein-coding gene	gene with protein product		612298	"tripartite motif-containing 44"				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.565T>A	chr11.hg19:g.35685224T>A	ENSP00000299413:p.Tyr189Asn		D3DR14|Q96QY2|Q9UGK0	Missense_Mutation	SNP	ENST00000299413.5	hg19	CCDS31461.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029805	0.35797	.	.	ENSG00000166326	ENST00000299413	T	0.52754	0.65	4.99	2.61	0.31194	Zinc finger, B-box (3);	0.000000	0.32608	N	0.005868	T	0.50051	0.1593	M	0.88704	2.975	0.42521	D	0.993006	B	0.22146	0.065	B	0.21708	0.036	T	0.50294	-0.8845	10	0.87932	D	0	-6.2404	5.5627	0.17152	0.1523:0.0858:0.0:0.7619	.	189	Q96DX7	TRI44_HUMAN	N	189	ENSP00000299413:Y189N	ENSP00000299413:Y189N	Y	+	1	0	TRIM44	35641800	1.000000	0.71417	0.666000	0.29783	0.021000	0.10359	5.358000	0.66064	0.308000	0.22923	-0.250000	0.11733	TAT		0.498	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1	NM_017583		A	35685224	T	A	35685224	3	1	38	1	0	0	0	0	1	0	0	0	16524	1522	53	5	567	5	TRIM44	11	35685224	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	27838422	35685224	99321292	54	2747											
AHNAK	79026	hgsc.bcm.edu	37	11	62294536	62294536	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr11:62294536delG	ENST00000378024.4	-	5	7627	c.7353delC	c.(7351-7353)cccfs	p.P2451fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2451					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAGAAATATTGGGGGCTTTGA	0.453																																																0													123	125	125					11																	62294536		2202	4299	6501	SO:0001589	frameshift_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7353delC	chr11.hg19:g.62294536delG	ENSP00000367263:p.Pro2451fs		A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	hg19	CCDS31584.1																																																																																				0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		-	62294536	G	-	62294536	7	5	38	1	0	1	0	1	0	0	0	0	414	1335	47	0	10439	0	AHNAK	11	62294536	Frame_Shift_Del	DEL	G	TCGA-5P-A9KC-01A-11D-A42J-10	26609312	62294536	72711980	55	2748											
SUV420H1	51111	hgsc.bcm.edu	37	11	67926523	67926523	+	Silent	SNP	A	A	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr11:67926523A>C	ENST00000304363.4	-	11	1643	c.1290T>G	c.(1288-1290)acT>acG	p.T430T		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	430					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TATTTATATGAGTTAGCTTAG	0.388																																																0													102	106	105					11																	67926523		2199	4294	6493	SO:0001819	synonymous_variant	51111			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1290T>G	chr11.hg19:g.67926523A>C			B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	hg19	CCDS31623.1																																																																																				0.388	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		C	67926523	A	C	67926523	2	2	38	1	0	0	0	0	0	0	0	1	15419	291	11	5		5	SUV420H1	11	67926523	Silent	SNP	A	TCGA-5P-A9KC-01A-11D-A42J-10	5631987	67926523	67079993	56	2749											
CNTN5	53942	hgsc.bcm.edu	37	11	99941227	99941227	+	Nonsense_Mutation	SNP	A	A	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr11:99941227A>T	ENST00000524871.1	+	11	1524	c.1234A>T	c.(1234-1236)Aag>Tag	p.K412*	CNTN5_ENST00000418526.2_Nonsense_Mutation_p.K338*|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.K412*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.K412*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.K412*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	412	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATGGGAATGTAAGGCTACTGG	0.468																																																0													93	92	92					11																	99941227		1892	4111	6003	SO:0001587	stop_gained	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1234A>T	chr11.hg19:g.99941227A>T	ENSP00000435637:p.Lys412*		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Nonsense_Mutation	SNP	ENST00000524871.1	hg19	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	40	8.015620	0.98610	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	.	.	.	5.97	5.97	0.96955	.	0.045838	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6272	0.76870	1.0:0.0:0.0:0.0	.	.	.	.	X	412;412;412;338;412	.	ENSP00000279463:K412X	K	+	1	0	CNTN5	99446437	1.000000	0.71417	0.993000	0.49108	0.844000	0.47949	9.339000	0.96797	2.285000	0.76669	0.528000	0.53228	AAG		0.468	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		T	99941227	A	T	99941227	4	4	38	1	0	0	0	0	0	1	0	0	3646	363	13	5	1268	5	CNTN5	11	99941227	Nonsense_Mutation	SNP	A	TCGA-5P-A9KC-01A-11D-A42J-10	32014704	99941227	35065289	57	2750											
OR8B8	26493	hgsc.bcm.edu	37	11	124310809	124310809	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr11:124310809G>T	ENST00000328064.2	-	1	245	c.173C>A	c.(172-174)cCt>cAt	p.P58H		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	58					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)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAAGTACATAGGGGTGTGCAA	0.453																																																0													120	123	122					11																	124310809		2201	4299	6500	SO:0001583	missense	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.173C>A	chr11.hg19:g.124310809G>T	ENSP00000330280:p.Pro58His		A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	hg19	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698534	0.68386	.	.	ENSG00000197125	ENST00000328064	T	0.02050	4.48	3.8	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000161	T	0.20047	0.0482	H	0.97440	4.005	0.48696	D	0.999697	D	0.89917	1.0	D	0.97110	1.0	T	0.24977	-1.0145	10	0.87932	D	0	.	11.8548	0.52431	0.0889:0.0:0.9111:0.0	.	58	Q15620	OR8B8_HUMAN	H	58	ENSP00000330280:P58H	ENSP00000330280:P58H	P	-	2	0	OR8B8	123816019	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.395000	0.79876	1.174000	0.42811	0.557000	0.71058	CCT		0.453	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		T	124310809	G	T	124310809	3	4	38	1	0	0	0	0	1	0	0	0	11232	1000	35	4	765	4	OR8B8	11	124310809	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	24369582	124310809	10695707	58	2751											
ADAMTS20	80070	hgsc.bcm.edu	37	12	43769218	43769218	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr12:43769218T>C	ENST00000389420.3	-	36	5409	c.5410A>G	c.(5410-5412)Aaa>Gaa	p.K1804E		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1804	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATTCTTATTTTGCTGAAAACA	0.338																																																0													125	120	121					12																	43769218		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5410A>G	chr12.hg19:g.43769218T>C	ENSP00000374071:p.Lys1804Glu		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	hg19	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766630	0.49574	.	.	ENSG00000173157	ENST00000389420	T	0.32515	1.45	4.93	4.93	0.64822	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.52532	D	0.000076	T	0.62060	0.2397	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70651	-0.4813	10	0.72032	D	0.01	.	15.2892	0.73854	0.0:0.0:0.0:1.0	.	1804	P59510	ATS20_HUMAN	E	1804	ENSP00000374071:K1804E	ENSP00000374071:K1804E	K	-	1	0	ADAMTS20	42055485	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	6.588000	0.74076	2.150000	0.67090	0.455000	0.32223	AAA		0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		C	43769218	T	C	43769218	3	2	38	1	0	0	0	0	1	0	0	0	266	1821	63	3	337	3	ADAMTS20	12	43769218	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10		43769218	90082677	59	2752											
DDN	23109	hgsc.bcm.edu	37	12	49392077	49392077	+	Silent	SNP	T	T	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr12:49392077T>A	ENST00000421952.2	-	2	603	c.582A>T	c.(580-582)ggA>ggT	p.G194G	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	194	Interaction with MAGI2.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GCCGCCGACCTCCCCAGGGCC	0.781																																																0													6	7	7					12																	49392077		1658	3517	5175	SO:0001819	synonymous_variant	23109			AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.582A>T	chr12.hg19:g.49392077T>A				Silent	SNP	ENST00000421952.2	hg19	CCDS31791.2																																																																																				0.781	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			A	49392077	T	A	49392077	2	1	38	1	0	0	0	0	0	0	0	1	4335	1538	54	5		5	DDN	12	49392077	Silent	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	5622859	49392077	84459818	60	2753											
ERBB3	2065	hgsc.bcm.edu	37	12	56481697	56481697	+	Splice_Site	SNP	T	T	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr12:56481697T>C	ENST00000267101.3	+	6	1172	c.732T>C	c.(730-732)ttT>ttC	p.F244F	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Splice_Site_p.F185F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	244					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)			CAGACTGCTTTGTATGTACCC	0.532																																																0													161	158	159					12																	56481697		2203	4300	6503	SO:0001630	splice_region_variant	2065			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.732+1T>C	chr12.hg19:g.56481697T>C			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	hg19	CCDS31833.1																																																																																				0.532	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		Silent	C	56481697	T	C	56481697	5	2	38	1	0	0	0	0	0	0	1	0	5210	1826	63	3	885	3	ERBB3	12	56481697	Splice_Site	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	7089620	56481697	77370198	61	2754											
R3HDM2	22864	hgsc.bcm.edu	37	12	57662177	57662177	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr12:57662177G>A	ENST00000347140.3	-	18	2287	c.1897C>T	c.(1897-1899)Cct>Tct	p.P633S	R3HDM2_ENST00000441731.2_Missense_Mutation_p.P328S|R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P360S|R3HDM2_ENST00000402412.1_Missense_Mutation_p.P647S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P667S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P633S|RP11-123K3.4_ENST00000548184.1_3'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	633	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGCTCACAGGGACCAGCATG	0.557																																																0													87	75	79					12																	57662177		2203	4300	6503	SO:0001583	missense	22864			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1897C>T	chr12.hg19:g.57662177G>A	ENSP00000317903:p.Pro633Ser		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	hg19	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475222	0.84640	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000548161	T;T;T;T;T;T;T;T	0.49720	0.82;0.8;1.83;1.83;1.83;0.77;1.4;1.72	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	M	0.64170	1.965	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.996;0.998	T	0.67177	-0.5736	10	0.54805	T	0.06	-10.1624	18.5737	0.91147	0.0:0.0:1.0:0.0	.	667;647;633;360	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	S	360;360;633;647;633;328;398;667;22	ENSP00000409146:P360S;ENSP00000377400:P360S;ENSP00000317903:P633S;ENSP00000385839:P647S;ENSP00000351784:P633S;ENSP00000408536:P328S;ENSP00000394676:P398S;ENSP00000385169:P667S	ENSP00000317903:P633S	P	-	1	0	R3HDM2	55948444	1.000000	0.71417	0.995000	0.50966	0.754000	0.42855	7.382000	0.79729	2.755000	0.94549	0.650000	0.86243	CCT		0.557	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		A	57662177	G	A	57662177	3	1	38	1	0	0	0	0	1	0	0	0	12894	1232	43	2	1061	2	R3HDM2	12	57662177	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	1180480	57662177	76189718	62	2755											
ASCL4	121549	hgsc.bcm.edu	37	12	108169302	108169302	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr12:108169302C>A	ENST00000342331.4	+	1	1141	c.310C>A	c.(310-312)Ctg>Atg	p.L104M		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	103	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GCCCCGGGAGCTGGCAGACAA	0.697																																					GBM(170;776 3695 11650)											0													6	7	7					12																	108169302		2116	4159	6275	SO:0001583	missense	121549			AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"Basic helix-loop-helix proteins"	24311	protein-coding gene	gene with protein product		609155	"achaete-scute complex-like 4 (Drosophila)", "achaete-scute complex homolog 4 (Drosophila)"				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.310C>A	chr12.hg19:g.108169302C>A	ENSP00000345420:p.Leu104Met		Q7RTS2	Missense_Mutation	SNP	ENST00000342331.4	hg19	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070242	0.36566	.	.	ENSG00000187855	ENST00000342331	D	0.98164	-4.76	4.33	1.4	0.22301	Helix-loop-helix DNA-binding (5);	0.283517	0.28748	N	0.014263	D	0.97717	0.9251	M	0.68317	2.08	0.22648	N	0.998896	P	0.42483	0.781	P	0.57152	0.814	D	0.93422	0.6778	10	0.34782	T	0.22	-17.6037	6.1213	0.20154	0.0:0.6081:0.1363:0.2556	.	103	Q6XD76	ASCL4_HUMAN	M	104	ENSP00000345420:L104M	ENSP00000345420:L104M	L	+	1	2	ASCL4	106693432	1.000000	0.71417	0.994000	0.49952	0.566000	0.35808	0.947000	0.29082	0.057000	0.16193	0.305000	0.20034	CTG		0.697	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		A	108169302	C	A	108169302	3	1	38	1	0	0	0	0	1	0	0	0	1036	796	28	4	312	4	ASCL4	12	108169302	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	50507125	108169302	25682593	63	2756											
PARP4	143	hgsc.bcm.edu	37	13	25009275	25009275	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr13:25009275C>T	ENST00000381989.3	-	31	4109	c.4004G>A	c.(4003-4005)aGt>aAt	p.S1335N		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1335					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGAAGCAGGACTGTGAGCGCG	0.498																																																0													86	92	90					13																	25009275		2203	4300	6503	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4004G>A	chr13.hg19:g.25009275C>T	ENSP00000371419:p.Ser1335Asn		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	hg19	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	c	0.841	-0.742013	0.03088	.	.	ENSG00000102699	ENST00000381989	T	0.01821	4.62	2.35	-4.71	0.03279	.	9.944990	0.00691	U	0.000733	T	0.01156	0.0038	N	0.19112	0.55	0.09310	N	1	B	0.24186	0.099	B	0.18263	0.021	T	0.46205	-0.9208	10	0.16420	T	0.52	.	0.5609	0.00679	0.1939:0.2856:0.2729:0.2476	.	1335	Q9UKK3	PARP4_HUMAN	N	1335	ENSP00000371419:S1335N	ENSP00000371419:S1335N	S	-	2	0	PARP4	23907275	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.146000	0.03191	-1.910000	0.01083	0.313000	0.20887	AGT		0.498	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		T	25009275	C	T	25009275	3	4	38	1	0	0	0	0	1	0	0	0	11465	565	20	2	1186	2	PARP4	13	25009275	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10		25009275	90160603	64	2757											
TGDS	23483	hgsc.bcm.edu	37	13	95230409	95230409	+	Silent	SNP	T	T	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr13:95230409T>C	ENST00000261296.5	-	9	795	c.675A>G	c.(673-675)tcA>tcG	p.S225S	TGDS_ENST00000498294.1_5'Flank	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	225					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TTTGAAGCCCTGACCCATGAA	0.373																																																0													77	74	75					13																	95230409		2203	4300	6503	SO:0001819	synonymous_variant	23483			AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	20324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 2E, member 1"					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.675A>G	chr13.hg19:g.95230409T>C			Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Silent	SNP	ENST00000261296.5	hg19	CCDS9471.1																																																																																				0.373	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		C	95230409	T	C	95230409	2	2	38	1	0	0	0	0	0	0	0	1	15819	1567	55	3		3	TGDS	13	95230409	Silent	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	70221134	95230409	19939469	65	2758											
SYT16	83851	hgsc.bcm.edu	37	14	62547937	62547937	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr14:62547937A>G	ENST00000430451.2	+	4	1576	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	460					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGCCACCTGCACCCAGAAGGG	0.502																																																0													30	32	31					14																	62547937		2105	4243	6348	SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1379A>G	chr14.hg19:g.62547937A>G	ENSP00000394700:p.His460Arg		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	hg19	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.503479	0.26949	.	.	ENSG00000139973	ENST00000430451	T	0.78003	-1.14	4.88	4.88	0.63580	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.521666	0.22640	N	0.057462	T	0.56156	0.1966	N	0.08118	0	0.80722	D	1	B	0.18310	0.027	B	0.17098	0.017	T	0.53885	-0.8375	10	0.34782	T	0.22	-1.3072	7.2012	0.25881	0.831:0.0:0.169:0.0	.	460	Q17RD7	SYT16_HUMAN	R	460	ENSP00000394700:H460R	ENSP00000394700:H460R	H	+	2	0	SYT16	61617690	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.399000	0.44495	2.164000	0.68074	0.533000	0.62120	CAC		0.502	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		G	62547937	A	G	62547937	3	3	38	1	0	0	0	0	1	0	0	0	15477	159	6	3	1393	3	SYT16	14	62547937	Missense_Mutation	SNP	A	TCGA-5P-A9KC-01A-11D-A42J-10		62547937	44801603	66	2759											
C14orf174	161394	hgsc.bcm.edu	37	14	77845295	77845295	+	Nonsense_Mutation	SNP	G	G	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr14:77845295G>T	ENST00000216471.4	+	1	1820	c.1534G>T	c.(1534-1536)Gaa>Taa	p.E512*	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	512										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCATGAAAAGGAAGTTGTAGA	0.408																																																0													98	96	97					14																	77845295		2203	4300	6503	SO:0001587	stop_gained	161394			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1534G>T	chr14.hg19:g.77845295G>T	ENSP00000216471:p.Glu512*		Q2M3P3	Nonsense_Mutation	SNP	ENST00000216471.4	hg19	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	36	5.723196	0.96847	.	.	ENSG00000100583	ENST00000216471	.	.	.	4.33	-2.85	0.05734	.	1.341590	0.05553	N	0.567955	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	5.1042	0.14775	0.3883:0.1822:0.4296:0.0	.	.	.	.	X	512	.	ENSP00000216471:E512X	E	+	1	0	SAMD15	76915048	0.002000	0.14202	0.000000	0.03702	0.020000	0.10135	-0.284000	0.08422	-0.515000	0.06479	-0.459000	0.05422	GAA		0.408	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		T	77845295	G	T	77845295	4	4	38	1	0	0	0	0	0	1	0	0	1761	1175	41	4	1536	4	C14orf174	14	77845295	Nonsense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	15297358	77845295	29504245	67	2760											
TTC7B	145567	hgsc.bcm.edu	37	14	91161915	91161915	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr14:91161915T>C	ENST00000328459.6	-	6	827	c.706A>G	c.(706-708)Aca>Gca	p.T236A	RP11-661G16.2_ENST00000553712.1_RNA|TTC7B_ENST00000357056.2_Missense_Mutation_p.T236A	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	236										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACTCCTCTTGTCAAGTTCCTG	0.383																																																0													123	101	108					14																	91161915		2203	4300	6503	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.706A>G	chr14.hg19:g.91161915T>C	ENSP00000336127:p.Thr236Ala		Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	hg19	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073012	0.36566	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000557766	T;T	0.37235	1.9;1.21	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	L	0.35723	1.085	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.21211	-1.0252	10	0.09084	T	0.74	-16.2664	15.4112	0.74923	0.0:0.0:0.0:1.0	.	236	Q86TV6	TTC7B_HUMAN	A	134;236;236;156	ENSP00000349564:T236A;ENSP00000336127:T236A	ENSP00000336127:T236A	T	-	1	0	TTC7B	90231668	1.000000	0.71417	0.998000	0.56505	0.186000	0.23388	7.386000	0.79775	2.118000	0.64928	0.402000	0.26972	ACA		0.383	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			C	91161915	T	C	91161915	3	2	38	1	0	0	0	0	1	0	0	0	16718	1667	58	3	1885	3	TTC7B	14	91161915	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	13316620	91161915	16187625	68	2761											
C15orf2	23742	hgsc.bcm.edu	37	15	24924481	24924481	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr15:24924481C>G	ENST00000329468.2	+	1	3941	c.3467C>G	c.(3466-3468)cCg>cGg	p.P1156R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1156					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P1156Q(1)									TTCCAACTTCCGTAAGAGCAC	0.418																																																1	Substitution - Missense(1)	lung(1)											72	63	66					15																	24924481		2203	4298	6501	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3467C>G	chr15.hg19:g.24924481C>G	ENSP00000333735:p.Pro1156Arg			Missense_Mutation	SNP	ENST00000329468.2	hg19	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	10.24	1.295704	0.23564	.	.	ENSG00000185823	ENST00000329468	T	0.09630	2.96	1.77	0.827	0.18835	.	.	.	.	.	T	0.10723	0.0262	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	P	0.62813	0.907	T	0.22208	-1.0223	9	0.87932	D	0	.	4.3207	0.11016	0.0:0.7896:0.0:0.2104	.	1156	Q9NZP6	CO002_HUMAN	R	1156	ENSP00000333735:P1156R	ENSP00000333735:P1156R	P	+	2	0	C15orf2	22475574	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	0.156000	0.16382	0.304000	0.22809	0.313000	0.20887	CCG		0.418	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		G	24924481	C	G	24924481	3	3	38	1	0	0	0	0	1	0	0	0	1786	652	23	4	3469	4	C15orf2	15	24924481	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10		24924481	77606911	69	2762											
SCAMP2	10066	hgsc.bcm.edu	37	15	75165566	75165566	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr15:75165566C>T	ENST00000268099.9	-	1	140	c.31G>A	c.(31-33)Gac>Aac	p.D11N		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	11					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						TCCACTGGGTCCGCGAAGGGG	0.682																																																0													48	43	45					15																	75165566		2018	3917	5935	SO:0001583	missense	10066			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.31G>A	chr15.hg19:g.75165566C>T	ENSP00000268099:p.Asp11Asn		B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	hg19	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355708	0.95854	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.20463	2.07	5.19	5.19	0.71726	.	0.108092	0.64402	D	0.000009	T	0.24586	0.0596	L	0.59436	1.845	0.49051	D	0.999744	P	0.39964	0.697	B	0.38500	0.275	T	0.02546	-1.1143	10	0.72032	D	0.01	.	14.1356	0.65287	0.0:1.0:0.0:0.0	.	11	O15127	SCAM2_HUMAN	N	11	ENSP00000268099:D11N	ENSP00000268099:D11N	D	-	1	0	SCAMP2	72952619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.069000	0.50026	2.716000	0.92895	0.650000	0.86243	GAC		0.682	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		T	75165566	C	T	75165566	3	4	38	1	0	0	0	0	1	0	0	0	13877	855	30	2	994	2	SCAMP2	15	75165566	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	50241085	75165566	27365826	70	2763											
SCAPER	49855	hgsc.bcm.edu	37	15	76646306	76646306	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr15:76646306A>T	ENST00000563290.1	-	30	4126	c.4031T>A	c.(4030-4032)cTg>cAg	p.L1344Q	SCAPER_ENST00000538941.2_Missense_Mutation_p.L1098Q|SCAPER_ENST00000324767.7_Missense_Mutation_p.L1344Q			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1344						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GAAAGTGGCCAGTAAAACACA	0.398																																																0													116	116	116					15																	76646306		1978	4174	6152	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.4031T>A	chr15.hg19:g.76646306A>T	ENSP00000454973:p.Leu1344Gln		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	hg19	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470147	0.84533	.	.	ENSG00000140386	ENST00000324767;ENST00000538941	T;T	0.58652	0.42;0.32	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	M	0.83774	2.66	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81833	-0.0751	10	0.87932	D	0	.	16.4563	0.84015	1.0:0.0:0.0:0.0	.	1343;1098	Q9BY12;F5H7X8	SCAPE_HUMAN;.	Q	1344;1098	ENSP00000326924:L1344Q;ENSP00000442190:L1098Q	ENSP00000326924:L1344Q	L	-	2	0	SCAPER	74433361	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	8.851000	0.92205	2.343000	0.79666	0.533000	0.62120	CTG		0.398	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		T	76646306	A	T	76646306	3	4	38	1	0	0	0	0	1	0	0	0	13884	188	7	5	183	5	SCAPER	15	76646306	Missense_Mutation	SNP	A	TCGA-5P-A9KC-01A-11D-A42J-10	1480740	76646306	25885086	71	2764											
ERI2	112479	hgsc.bcm.edu	37	16	20809656	20809656	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr16:20809656G>C	ENST00000357967.4	-	9	1508	c.1466C>G	c.(1465-1467)gCc>gGc	p.A489G	ERI2_ENST00000389345.5_Missense_Mutation_p.A224G|ERI2_ENST00000564349.1_Missense_Mutation_p.A396G|ERI2_ENST00000563117.1_Missense_Mutation_p.A396G|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000569729.1_Intron	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	489							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TGGATCTTTGGCTTCTTTTAC	0.353																																																0													109	95	99					16																	20809656		692	1591	2283	SO:0001583	missense	112479			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.1466C>G	chr16.hg19:g.20809656G>C	ENSP00000350651:p.Ala489Gly		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	hg19	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501882	0.26949	.	.	ENSG00000196678	ENST00000357967;ENST00000389345	T;T	0.20069	2.14;2.1	5.83	3.8	0.43715	.	1.431980	0.04342	N	0.354195	T	0.21881	0.0527	L	0.59436	1.845	0.09310	N	1	B	0.31680	0.335	B	0.28139	0.086	T	0.33523	-0.9865	10	0.66056	D	0.02	1.127	2.2941	0.04145	0.1648:0.2783:0.4135:0.1434	.	489	A8K979	ERI2_HUMAN	G	489;224	ENSP00000350651:A489G;ENSP00000373996:A224G	ENSP00000350651:A489G	A	-	2	0	ERI2	20717157	0.012000	0.17670	0.966000	0.40874	0.901000	0.52897	0.386000	0.20702	0.743000	0.32719	0.655000	0.94253	GCC		0.353	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663		C	20809656	G	C	20809656	3	2	38	1	0	0	0	0	1	0	0	0	5230	1203	42	4	880	4	ERI2	16	20809656	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10		20809656	69545097	72	2765											
PFN1	5216	hgsc.bcm.edu	37	17	4850000	4850000	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr17:4850000T>A	ENST00000225655.5	-	2	867	c.248A>T	c.(247-249)gAa>gTa	p.E83V	PFN1_ENST00000574872.1_Missense_Mutation_p.E47V	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	83					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CATGCTAAATTCCCCATCCTG	0.532																																																0													98	100	99					17																	4850000		2203	4300	6503	SO:0001583	missense	5216			BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.248A>T	chr17.hg19:g.4850000T>A	ENSP00000225655:p.Glu83Val		Q53Y44	Missense_Mutation	SNP	ENST00000225655.5	hg19	CCDS11061.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.255562	0.59321	.	.	ENSG00000108518	ENST00000225655	D	0.86694	-2.16	4.41	4.41	0.53225	.	0.225081	0.37577	N	0.002024	D	0.82323	0.5012	L	0.27053	0.805	0.40895	D	0.984105	P;D	0.57899	0.826;0.981	B;P	0.50860	0.251;0.652	D	0.83494	0.0071	10	0.87932	D	0	.	6.7098	0.23270	0.0:0.1044:0.0:0.8956	.	83;83	P07737;Q53Y44	PROF1_HUMAN;.	V	83	ENSP00000225655:E83V	ENSP00000225655:E83V	E	-	2	0	PFN1	4790745	1.000000	0.71417	0.973000	0.42090	0.877000	0.50540	6.167000	0.71902	1.992000	0.58205	0.379000	0.24179	GAA		0.532	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1	NM_005022		A	4850000	T	A	4850000	3	1	38	1	0	0	0	0	1	0	0	0	11769	1783	62	5	182	5	PFN1	17	4850000	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10		4850000	76345210	73	2766											
SLFN13	146857	hgsc.bcm.edu	37	17	33768163	33768163	+	Silent	SNP	A	A	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr17:33768163A>G	ENST00000285013.6	-	6	2420	c.2145T>C	c.(2143-2145)ctT>ctC	p.L715L	SLFN13_ENST00000534689.1_Silent_p.L397L|SLFN13_ENST00000533791.1_Silent_p.L715L|SLFN13_ENST00000360502.2_Silent_p.L397L|SLFN13_ENST00000542635.1_Silent_p.L715L|SLFN13_ENST00000526861.1_Silent_p.L715L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	715						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGAGAGGGGGAAGGCCACTGT	0.458																																																0													135	143	140					17																	33768163		2203	4300	6503	SO:0001819	synonymous_variant	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2145T>C	chr17.hg19:g.33768163A>G			E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	hg19	CCDS32620.1																																																																																				0.458	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		G	33768163	A	G	33768163	2	3	38	1	0	0	0	0	0	0	0	1	14742	233	9	3		3	SLFN13	17	33768163	Silent	SNP	A	TCGA-5P-A9KC-01A-11D-A42J-10	28918163	33768163	47427047	74	2767											
ACLY	47	hgsc.bcm.edu	37	17	40062802	40062802	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr17:40062802C>A	ENST00000352035.2	-	8	975	c.845G>T	c.(844-846)gGt>gTt	p.G282V	ACLY_ENST00000393896.2_Missense_Mutation_p.G282V|ACLY_ENST00000353196.1_Missense_Mutation_p.G282V|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Missense_Mutation_p.G282V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	282					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AGAGGCGCCACCCCCGGCCAC	0.602																																					Colon(64;807 1396 15971 30971)											0													111	103	105					17																	40062802		2203	4300	6503	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.845G>T	chr17.hg19:g.40062802C>A	ENSP00000253792:p.Gly282Val		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	hg19	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324101	0.95708	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000393896	T;T;T	0.70986	-0.53;-0.53;-0.53	6.07	6.07	0.98685	Succinyl-CoA synthetase-like (2);Succinyl-CoA synthetase, beta subunit, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89230	0.6656	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.90677	0.4602	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	336;336;282;282	B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;ACLY_HUMAN	V	282;336;282;282	ENSP00000253792:G282V;ENSP00000345398:G282V;ENSP00000377474:G282V	ENSP00000253792:G282V	G	-	2	0	ACLY	37316328	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.616000	0.83018	2.884000	0.98904	0.655000	0.94253	GGT		0.602	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		A	40062802	C	A	40062802	3	1	38	1	0	0	0	0	1	0	0	0	143	507	18	4	2548	4	ACLY	17	40062802	Missense_Mutation	SNP	C	TCGA-5P-A9KC-01A-11D-A42J-10	6294639	40062802	41132408	75	2768											
BRCA1	672	hgsc.bcm.edu	37	17	41246841	41246841	+	Missense_Mutation	SNP	G	G	C	rs80356990		TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr17:41246841G>C	ENST00000357654.3	-	10	825	c.707C>G	c.(706-708)aCt>aGt	p.T236S	BRCA1_ENST00000471181.2_Missense_Mutation_p.T236S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.T236S|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000493795.1_Missense_Mutation_p.T189S|BRCA1_ENST00000468300.1_Missense_Mutation_p.T236S|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.T236S|BRCA1_ENST00000491747.2_Missense_Mutation_p.T236S	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	236					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGATGTTCAGTATTTGTTAC	0.348			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													40	38	38					17																	41246841		2203	4299	6502	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.707C>G	chr17.hg19:g.41246841G>C	ENSP00000350283:p.Thr236Ser		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	hg19	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.010|0.010	-1.767696|-1.767696	0.00645|0.00645	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97161	.|-2.25;-2.36;-2.35;-2.14;-2.64;-2.25;-2.4;-1.96;-1.79;-2.26;-1.65;-2.81;-4.27;-2.49	4.86|4.86	-0.582|-0.582	0.11709|0.11709	.|.	.|0.962464	.|0.08592	.|N	.|0.922956	D|D	0.93048|0.93048	0.7787|0.7787	L|L	0.44542|0.44542	1.39|1.39	0.18873|0.18873	N|N	0.999988|0.999988	.|B;B;P;B;B;B;P;B;P;B;B	.|0.37864	.|0.058;0.039;0.457;0.146;0.091;0.146;0.592;0.051;0.61;0.41;0.228	.|B;B;B;B;B;B;B;B;B;B;B	.|0.35278	.|0.01;0.02;0.098;0.024;0.024;0.024;0.199;0.016;0.138;0.096;0.053	D|D	0.86464|0.86464	0.1781|0.1781	5|10	.|0.66056	.|D	.|0.02	.|.	3.5881|3.5881	0.07978|0.07978	0.4166:0.0:0.2972:0.2863|0.4166:0.0:0.2972:0.2863	.|.	.|235;189;235;236;195;236;236;236;236;236;236	.|E7EUM2;B4DES0;E7ETR2;E7EMP0;E7ERL4;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.|.;.;.;.;.;.;.;.;.;BRCA1_HUMAN;.	V|S	102|236;236;236;236;236;189;236;189;235;235;110;189;111;236;210;236	.|ENSP00000350283:T236S;ENSP00000326002:T236S;ENSP00000246907:T236S;ENSP00000417148:T236S;ENSP00000377294:T189S;ENSP00000418960:T236S;ENSP00000418775:T189S;ENSP00000420412:T235S;ENSP00000419481:T110S;ENSP00000418819:T189S;ENSP00000418212:T111S;ENSP00000419274:T236S;ENSP00000419988:T210S;ENSP00000419103:T236S	.|ENSP00000246907:T236S	L|T	-|-	1|2	2|0	BRCA1|BRCA1	38500367|38500367	0.000000|0.000000	0.05858|0.05858	0.106000|0.106000	0.21319|0.21319	0.131000|0.131000	0.20780|0.20780	-0.880000|-0.880000	0.04183|0.04183	-0.208000|-0.208000	0.10171|0.10171	-0.218000|-0.218000	0.12543|0.12543	CTG|ACT		0.348	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		C	41246841	G	C	41246841	3	2	38	1	0	0	0	0	1	0	0	0	1500	1029	36	4	5010	4	BRCA1	17	41246841	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	1184039	41246841	39948369	76	2769											
ITGB3	3690	hgsc.bcm.edu	37	17	45380155	45380156	+	Frame_Shift_Ins	INS	-	-	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr17:45380155_45380156insA	ENST00000559488.1	+	13	2099_2100	c.2083_2084insA	c.(2083-2085)tacfs	p.Y695fs	RP11-290H9.4_ENST00000576345.1_RNA|ITGB3_ENST00000560629.1_Frame_Shift_Ins_p.L684fs|RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000435993.2_Frame_Shift_Ins_p.Y648fs	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	695					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CAGATTCCAGTACTATGAAGAT	0.5																																																0																																										SO:0001589	frameshift_variant	3690				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.2084dupA	chr17.hg19:g.45380156_45380156dupA	ENSP00000452786:p.Tyr695fs		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Frame_Shift_Ins	INS	ENST00000559488.1	hg19	CCDS11511.1																																																																																				0.5	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		A	45380156	-	A	45380155	7	5	38	1	0	1	1	0	0	0	0	0	7897	1638	57	0	2133	0	ITGB3	17	45380155	Frame_Shift_Ins	INS	-	TCGA-5P-A9KC-01A-11D-A42J-10	4133314	45380155	35815055	77	2770											
CHAD	1101	hgsc.bcm.edu	37	17	48545993	48545993	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr17:48545993T>A	ENST00000508540.1	-	1	334	c.182A>T	c.(181-183)aAc>aTc	p.N61I	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000506085.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.N61I|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	61					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGGGAAGTTGTTGCGCTGTAG	0.622																																																0													97	81	86					17																	48545993		2203	4300	6503	SO:0001583	missense	1101			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.182A>T	chr17.hg19:g.48545993T>A	ENSP00000423812:p.Asn61Ile		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	hg19	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250312	0.80024	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.08282	3.11;3.11	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65307	-0.6200	10	0.87932	D	0	.	13.6404	0.62246	0.0:0.0:0.0:1.0	.	61	O15335	CHAD_HUMAN	I	61	ENSP00000423812:N61I;ENSP00000258969:N61I	ENSP00000258969:N61I	N	-	2	0	CHAD	45900992	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.774000	0.85478	1.811000	0.52892	0.379000	0.24179	AAC		0.622	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		A	48545993	T	A	48545993	3	1	38	1	0	0	0	0	1	0	0	0	3312	1725	60	5	909	5	CHAD	17	48545993	Missense_Mutation	SNP	T	TCGA-5P-A9KC-01A-11D-A42J-10	3165838	48545993	32649217	78	2771											
TMC8	147138	hgsc.bcm.edu	37	17	76130534	76130534	+	Silent	SNP	G	G	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr17:76130534G>A	ENST00000318430.5	+	8	1250	c.876G>A	c.(874-876)acG>acA	p.T292T	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_Silent_p.T69T	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	292					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GGGCCCAGACGGCCTGCCGCC	0.672																																																0													38	42	41					17																	76130534		2203	4300	6503	SO:0001819	synonymous_variant	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.876G>A	chr17.hg19:g.76130534G>A			Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	hg19	CCDS32749.1																																																																																				0.672	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			A	76130534	G	A	76130534	2	1	38	1	0	0	0	0	0	0	0	1	15996	1103	39	1		1	TMC8	17	76130534	Silent	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10	27584541	76130534	5064676	79	2772											
CLUL1	27098	hgsc.bcm.edu	37	18	619236	619236	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr18:619236G>A	ENST00000400606.2	+	3	275	c.130G>A	c.(130-132)Gat>Aat	p.D44N	CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000581619.1_Missense_Mutation_p.D69N|CLUL1_ENST00000579494.1_Missense_Mutation_p.D44N|CLUL1_ENST00000540035.1_Missense_Mutation_p.D96N|CLUL1_ENST00000338387.7_Missense_Mutation_p.D44N	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	44					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GGGGGAGATAGATGCAGATGA	0.388																																																0													133	125	127					18																	619236		1882	4114	5996	SO:0001583	missense	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.130G>A	chr18.hg19:g.619236G>A	ENSP00000383449:p.Asp44Asn		A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	hg19	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.568182	0.00895	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.24151	1.87;1.87;1.87	5.07	0.56	0.17279	Clusterin, N-terminal (1);	0.746850	0.13546	N	0.379829	T	0.15522	0.0374	L	0.51422	1.61	0.09310	N	1	B;B	0.17268	0.021;0.006	B;B	0.13407	0.008;0.009	T	0.38908	-0.9639	10	0.02654	T	1	-0.8279	3.5588	0.07874	0.0916:0.1057:0.2609:0.5417	.	96;44	F5GWQ8;Q15846	.;CLUL1_HUMAN	N	44;96;44	ENSP00000383449:D44N;ENSP00000441726:D96N;ENSP00000341128:D44N	ENSP00000341128:D44N	D	+	1	0	CLUL1	609236	0.897000	0.30589	0.007000	0.13788	0.005000	0.04900	1.467000	0.35321	0.154000	0.19237	-0.182000	0.12963	GAT		0.388	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			A	619236	G	A	619236	3	1	38	1	0	0	0	0	1	0	0	0	3572	942	33	2	136	2	CLUL1	18	619236	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10		619236	77458012	80	2773											
ICAM1	3383	hgsc.bcm.edu	37	19	10394341	10394341	+	Silent	SNP	G	G	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr19:10394341G>T	ENST00000264832.3	+	3	841	c.516G>T	c.(514-516)acG>acT	p.T172T	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	172	Ig-like C2-type 2.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	TCACGACCACGGTGCTGGTGA	0.657																																																0													33	34	33					19																	10394341		2203	4300	6503	SO:0001819	synonymous_variant	3383				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.516G>T	chr19.hg19:g.10394341G>T			B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	hg19	CCDS12231.1																																																																																				0.657	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			T	10394341	G	T	10394341	2	4	38	1	0	0	0	0	0	0	0	1	7481	1103	39	4		4	ICAM1	19	10394341	Silent	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10		10394341	48734642	81	2774											
ZNF226	7769	hgsc.bcm.edu	37	19	44677042	44677042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr19:44677042delC	ENST00000590089.1	+	6	539	c.172delC	c.(172-174)cctfs	p.P58fs	ZNF226_ENST00000588742.1_Frame_Shift_Del_p.P58fs|ZNF226_ENST00000300823.6_Frame_Shift_Del_p.P58fs|ZNF226_ENST00000589160.1_Frame_Shift_Del_p.P58fs|ZNF226_ENST00000413984.2_Frame_Shift_Del_p.P58fs|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.P58fs|ZNF226_ENST00000588795.1_Frame_Shift_Del_p.P58fs|ZNF226_ENST00000337433.5_Frame_Shift_Del_p.P58fs|ZNF226_ENST00000588883.1_Frame_Shift_Del_p.P58fs			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				AGATGTATCACCTATAGAAAG	0.363																																					Pancreas(115;581 1665 13228 19278 50070)											0													73	68	69					19																	44677042		1872	4108	5980	SO:0001589	frameshift_variant	7769			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.172delC	chr19.hg19:g.44677042delC	ENSP00000465121:p.Pro58fs		Q8WWE6|Q96TE6|Q9NS44	Frame_Shift_Del	DEL	ENST00000590089.1	hg19	CCDS46102.1																																																																																				0.363	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			-	44677042	C	-	44677042	7	5	38	1	0	1	0	1	0	0	0	0	17785	507	18	0	182	0	ZNF226	19	44677042	Frame_Shift_Del	DEL	C	TCGA-5P-A9KC-01A-11D-A42J-10	34282701	44677042	14451941	82	2775											
CEP250	11190	hgsc.bcm.edu	37	20	34067123	34067123	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr20:34067123A>G	ENST00000397527.1	+	18	2882	c.2162A>G	c.(2161-2163)gAa>gGa	p.E721G	RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.E721G	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	721	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGCGACAGGAAGAAGTGCTT	0.612																																																0													115	99	104					20																	34067123		2203	4300	6503	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2162A>G	chr20.hg19:g.34067123A>G	ENSP00000380661:p.Glu721Gly		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	hg19	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606924	0.46527	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.11169	2.8;2.85	4.74	4.74	0.60224	.	0.093895	0.46442	D	0.000300	T	0.13500	0.0327	M	0.71581	2.175	0.26978	N	0.965431	B	0.14012	0.009	B	0.15484	0.013	T	0.08046	-1.0741	10	0.45353	T	0.12	.	8.6617	0.34097	0.9136:0.0:0.0864:0.0	.	721	Q9BV73	CP250_HUMAN	G	721	ENSP00000380661:E721G;ENSP00000341541:E721G	ENSP00000341541:E721G	E	+	2	0	CEP250	33530537	0.998000	0.40836	0.870000	0.34147	0.519000	0.34347	0.789000	0.26886	2.118000	0.64928	0.533000	0.62120	GAA		0.612	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		G	34067123	A	G	34067123	3	3	38	1	0	0	0	0	1	0	0	0	3254	246	9	3	2220	3	CEP250	20	34067123	Missense_Mutation	SNP	A	TCGA-5P-A9KC-01A-11D-A42J-10		34067123	28958397	83	2776											
CHRNA4	1137	hgsc.bcm.edu	37	20	61982275	61982275	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr20:61982275A>G	ENST00000370263.4	-	5	709	c.488T>C	c.(487-489)aTc>aCc	p.I163T	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	163					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GGTGACGTCGATGCTGCAGGA	0.602																																																0													113	103	107					20																	61982275		2202	4300	6502	SO:0001583	missense	1137				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.488T>C	chr20.hg19:g.61982275A>G	ENSP00000359285:p.Ile163Thr		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	hg19	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218747	0.79464	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.81499	-1.5	4.87	4.87	0.63330	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92192	0.7524	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;1.0	D	0.94266	0.7506	10	0.87932	D	0	.	14.4626	0.67462	1.0:0.0:0.0:0.0	.	92;163	Q4VAQ5;P43681	.;ACHA4_HUMAN	T	69;163;92	ENSP00000359285:I163T	ENSP00000359280:I69T	I	-	2	0	CHRNA4	61452719	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.135000	0.94478	1.806000	0.52798	0.459000	0.35465	ATC		0.602	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			G	61982275	A	G	61982275	3	3	38	1	0	0	0	0	1	0	0	0	3387	333	12	3	1403	3	CHRNA4	20	61982275	Missense_Mutation	SNP	A	TCGA-5P-A9KC-01A-11D-A42J-10	27915152	61982275	1043245	84	2777											
LZTR1	8216	hgsc.bcm.edu	37	22	21343964	21343964	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr22:21343964G>T	ENST00000215739.8	+	7	1003	c.644G>T	c.(643-645)tGg>tTg	p.W215L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.W196L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	215					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTCACCTGCTgggaggaggtg	0.647																																																0													53	42	46					22																	21343964		2203	4300	6503	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.644G>T	chr22.hg19:g.21343964G>T	ENSP00000215739:p.Trp215Leu		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	hg19	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	35	5.532619	0.96446	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	D;D	0.81659	-1.52;-1.52	5.96	5.96	0.96718	Kelch-type beta propeller (1);	0.366329	0.33712	N	0.004632	D	0.91112	0.7202	M	0.89095	3.005	0.80722	D	1	D;D;D;P	0.71674	0.998;0.996;0.978;0.95	P;D;P;P	0.67900	0.903;0.954;0.832;0.487	D	0.92081	0.5672	10	0.87932	D	0	-8.4501	17.8985	0.88896	0.0:0.0:1.0:0.0	.	196;174;215;174	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	L	174;215;196	ENSP00000215739:W215L;ENSP00000374006:W196L	ENSP00000215739:W215L	W	+	2	0	LZTR1	19673964	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.497000	0.97970	2.834000	0.97654	0.650000	0.86243	TGG		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		T	21343964	G	T	21343964	3	4	38	1	0	0	0	0	1	0	0	0	9139	1357	47	4	670	4	LZTR1	22	21343964	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10		21343964	29960602	85	2778											
SMARCB1	6598	hgsc.bcm.edu	37	22	24167567	24167568	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chr22:24167567_24167568delAC	ENST00000263121.7	+	7	1147_1148	c.951_952delAC	c.(949-954)ggacagfs	p.Q318fs	SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.Q309fs|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.Q272fs|SMARCB1_ENST00000344921.6_Frame_Shift_Del_p.Q327fs	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	318	2 X approximate tandem repeats.|Interaction with PPP1R15A.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(6)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCATCCGGGGACAGCTGAGCTG	0.545			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	7	Unknown(6)|Deletion - In frame(1)	central_nervous_system(6)|soft_tissue(1)																																								SO:0001589	frameshift_variant	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.951_952delAC	chr22.hg19:g.24167567_24167568delAC	ENSP00000263121:p.Gln318fs		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Frame_Shift_Del	DEL	ENST00000263121.7	hg19	CCDS13817.1																																																																																				0.545	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		-	24167568	AC	-	24167567	7	5	38	1	0	1	0	1	0	0	0	0	14780	262	10	0	977	0	SMARCB1	22	24167567	Frame_Shift_Del	DEL	AC	TCGA-5P-A9KC-01A-11D-A42J-10	2823603	24167567	27136999	86	2779											
MPP1	4354	hgsc.bcm.edu	37	X	154007573	154007573	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KC-01A-11D-A42J-10	TCGA-5P-A9KC-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6a01a138-dd7b-4d04-b7c1-53e09d984f27	1a9bde7a-dc3e-413a-91fe-bf1fd077ada1	g.chrX:154007573G>C	ENST00000369534.3	-	12	1427	c.1280C>G	c.(1279-1281)gCt>gGt	p.A427G	MPP1_ENST00000413259.3_Missense_Mutation_p.A397G|MPP1_ENST00000393531.1_Missense_Mutation_p.A407G	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	427	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.|Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAAGTAGTGAGCGTACTGGCT	0.517																																																0													101	81	88					X																	154007573		2203	4300	6503	SO:0001583	missense	4354				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.1280C>G	chrX.hg19:g.154007573G>C	ENSP00000358547:p.Ala427Gly		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	hg19	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	G	5.893	0.348929	0.11126	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531	T;T;T	0.43294	0.95;0.95;0.95	5.86	5.86	0.93980	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.154571	0.56097	D	0.000023	T	0.31513	0.0799	N	0.25992	0.78	0.47037	D	0.999298	B;B;B;B	0.12013	0.005;0.0;0.0;0.0	B;B;B;B	0.10450	0.004;0.005;0.003;0.003	T	0.13019	-1.0525	10	0.11182	T	0.66	.	17.5546	0.87887	0.0:0.0:1.0:0.0	.	410;397;407;427	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	G	427;397;407	ENSP00000358547:A427G;ENSP00000400155:A397G;ENSP00000377165:A407G	ENSP00000358547:A427G	A	-	2	0	MPP1	153660767	0.997000	0.39634	0.644000	0.29465	0.990000	0.78478	5.737000	0.68606	2.465000	0.83290	0.600000	0.82982	GCT		0.517	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		C	154007573	G	C	154007573	3	2	38	1	0	0	0	0	1	0	0	0	9735	971	34	4	124	4	MPP1	23	154007573	Missense_Mutation	SNP	G	TCGA-5P-A9KC-01A-11D-A42J-10		154007573	1262987	87	2780											
TMEM52	339456	hgsc.bcm.edu	37	1	1850654	1850654	+	Silent	SNP	G	G	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr1:1850654G>C	ENST00000310991.3	-	1	58	c.51C>G	c.(49-51)ctC>ctG	p.L17L	TMEM52_ENST00000378602.3_5'Flank	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	17						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ggagcggcaggagcggcagca	0.771																																																0													1	2	1					1																	1850654		671	1684	2355	SO:0001819	synonymous_variant	339456			AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.51C>G	chr1.hg19:g.1850654G>C			Q4VXS6|Q6UX25	Silent	SNP	ENST00000310991.3	hg19	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	4.530	0.098402	0.08681	.	.	ENSG00000178821	ENST00000378598	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.39489	0.1080	.	.	.	0.22446	N	0.999091	.	.	.	.	.	.	T	0.39035	-0.9633	4	0.87932	D	0	.	.	.	.	.	.	.	.	C	15	.	ENSP00000367861:S15C	S	-	2	0	TMEM52	1840514	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	0.286000	0.18902	0.192000	0.20272	0.195000	0.17529	TCC		0.771	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		C	1850654	G	C	1850654	2	2	39	1	0	0	0	0	0	0	0	1	16183	1161	41	4		4	TMEM52	1	1850654	Silent	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10		1850654	247399967	1	2781											
CHD5	26038	hgsc.bcm.edu	37	1	6212475	6212475	+	Silent	SNP	G	G	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr1:6212475G>T	ENST00000262450.3	-	6	966	c.867C>A	c.(865-867)tcC>tcA	p.S289S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		cactcacCGAGGAGCCTTTCT	0.552																																																0													128	103	111					1																	6212475		2203	4300	6503	SO:0001819	synonymous_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.867C>A	chr1.hg19:g.6212475G>T			A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	hg19	CCDS57.1																																																																																				0.552	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		T	6212475	G	T	6212475	2	4	39	1	0	0	0	0	0	0	0	1	3330	987	35	4		4	CHD5	1	6212475	Silent	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	4361821	6212475	243038146	2	2782											
GCLM	2730	hgsc.bcm.edu	37	1	94360206	94360206	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr1:94360206A>G	ENST00000370238.3	-	6	865	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	207					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	TGTATGTCAAATTGTTTAGCA	0.328																																																0													149	145	146					1																	94360206		2203	4300	6503	SO:0001583	missense	2730			L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"gamma-glutamylcysteine synthetase"	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.619T>C	chr1.hg19:g.94360206A>G	ENSP00000359258:p.Phe207Leu		A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Missense_Mutation	SNP	ENST00000370238.3	hg19	CCDS746.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220456	0.79464	.	.	ENSG00000023909	ENST00000370238	T	0.38560	1.13	5.94	5.94	0.96194	NADP-dependent oxidoreductase domain (2);	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	M	0.63428	1.95	0.58432	D	0.999999	B	0.30146	0.27	B	0.31812	0.136	T	0.10543	-1.0625	10	0.24483	T	0.36	.	16.4127	0.83723	1.0:0.0:0.0:0.0	.	207	P48507	GSH0_HUMAN	L	207	ENSP00000359258:F207L	ENSP00000359258:F207L	F	-	1	0	GCLM	94132794	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	9.251000	0.95483	2.279000	0.76181	0.528000	0.53228	TTT		0.328	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1	NM_002061		G	94360206	A	G	94360206	3	3	39	1	0	0	0	0	1	0	0	0	6298	101	4	3	213	3	GCLM	1	94360206	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	88147731	94360206	154890415	3	2783											
ATXN7L2	127002	hgsc.bcm.edu	37	1	110035211	110035211	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr1:110035211A>G	ENST00000369870.3	+	11	2173	c.2158A>G	c.(2158-2160)Aaa>Gaa	p.K720E	ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000430195.2_5'Flank|CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000369868.3_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	720										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCTGCAGTCAAAAGCCCATTA	0.572																																																0													166	165	166					1																	110035211		2203	4300	6503	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.2158A>G	chr1.hg19:g.110035211A>G	ENSP00000358886:p.Lys720Glu			Missense_Mutation	SNP	ENST00000369870.3	hg19	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935311	0.52866	.	.	ENSG00000162650	ENST00000369870;ENST00000369869	T	0.36157	1.27	4.9	4.9	0.64082	.	1.139640	0.06543	N	0.743509	T	0.28764	0.0713	N	0.08118	0	0.36581	D	0.873544	D	0.63880	0.993	D	0.70935	0.971	T	0.09975	-1.0650	10	0.66056	D	0.02	25.5507	10.8481	0.46754	1.0:0.0:0.0:0.0	.	720	Q5T6C5	AT7L2_HUMAN	E	720;347	ENSP00000358886:K720E	ENSP00000358885:K347E	K	+	1	0	ATXN7L2	109836734	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.732000	0.62029	2.064000	0.61679	0.459000	0.35465	AAA		0.572	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		G	110035211	A	G	110035211	3	3	39	1	0	0	0	0	1	0	0	0	1217	15	1	3	2200	3	ATXN7L2	1	110035211	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	15675005	110035211	139215410	4	2784											
TRIM33	51592	hgsc.bcm.edu	37	1	114942184	114942184	+	Silent	SNP	G	G	A	rs376287925		TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr1:114942184G>A	ENST00000358465.2	-	18	3098	c.3015C>T	c.(3013-3015)acC>acT	p.T1005T	TRIM33_ENST00000450349.2_Silent_p.T637T|TRIM33_ENST00000369543.2_Silent_p.T1005T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1005	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTTTTCACGGTGGATAAAT	0.348			T	RET	papillary thyroid								G|||	1	0.000199681	0.0	0.0	5008	,	,		13211	0.0		0.0	False		,,,				2504	0.001						Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	0								G	,	0,4406		0,0,2203	120	131	127		3015,3015	-2.2	1	1		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRIM33	NM_015906.3,NM_033020.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1005/1128,1005/1111	114942184	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.3015C>T	chr1.hg19:g.114942184G>A			O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	hg19	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.123105	0.20959	0.0	1.16E-4	ENSG00000197323	ENST00000448034	.	.	.	5.61	-2.2	0.06994	.	.	.	.	.	T	0.23532	0.0569	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32268	-0.9913	4	.	.	.	-9.9523	2.2583	0.04060	0.143:0.2503:0.1421:0.4645	.	.	.	.	L	766	.	.	P	-	2	0	TRIM33	114743707	0.082000	0.21442	0.998000	0.56505	0.999000	0.98932	-0.593000	0.05740	-0.013000	0.14199	0.650000	0.86243	CCG		0.348	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		A	114942184	G	A	114942184	2	1	39	1	0	0	0	0	0	0	0	1	16512	1103	39	1		1	TRIM33	1	114942184	Silent	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	4906973	114942184	134308437	5	2785											
VTCN1	79679	hgsc.bcm.edu	37	1	117699520	117699520	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr1:117699520T>C	ENST00000369458.3	-	3	199	c.121A>G	c.(121-123)Act>Gct	p.T41A	VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Missense_Mutation_p.T44A	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GAGGCGACAGTAGTGACTGTG	0.473																																																0													68	65	66					1																	117699520		2203	4300	6503	SO:0001583	missense	79679			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.121A>G	chr1.hg19:g.117699520T>C	ENSP00000358470:p.Thr41Ala			Missense_Mutation	SNP	ENST00000369458.3	hg19	CCDS894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.374|2.374	-0.343751|-0.343751	0.05208|0.05208	.|.	.|.	ENSG00000134258|ENSG00000134258	ENST00000369458;ENST00000359008|ENST00000369456	T;T|.	0.06142|.	3.35;3.34|.	5.88|5.88	4.76|4.76	0.60689|0.60689	Immunoglobulin subtype (1);|.	0.094559|.	0.47093|.	D|.	0.000254|.	T|T	0.10035|0.10035	0.0246|0.0246	N|N	0.00926|0.00926	-1.1|-1.1	0.44462|0.44462	D|D	0.997391|0.997391	B|.	0.21381|.	0.055|.	B|.	0.20955|.	0.032|.	T|T	0.10245|0.10245	-1.0638|-1.0638	10|6	0.07813|0.87932	T|D	0.8|0	-7.9789|-7.9789	7.5709|7.5709	0.27907|0.27907	0.0:0.1647:0.0:0.8353|0.0:0.1647:0.0:0.8353	.|.	41|.	Q7Z7D3|.	VTCN1_HUMAN|.	A|C	41;44|68	ENSP00000358470:T41A;ENSP00000351899:T44A|.	ENSP00000351899:T44A|ENSP00000358468:Y68C	T|Y	-|-	1|2	0|0	VTCN1|VTCN1	117501043|117501043	0.964000|0.964000	0.33143|0.33143	0.078000|0.078000	0.20375|0.20375	0.059000|0.059000	0.15707|0.15707	2.478000|2.478000	0.45189|0.45189	1.060000|1.060000	0.40578|0.40578	-0.270000|-0.270000	0.10280|0.10280	ACT|TAC		0.473	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		C	117699520	T	C	117699520	3	2	39	1	0	0	0	0	1	0	0	0	17239	1638	57	3	739	3	VTCN1	1	117699520	Missense_Mutation	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	2757336	117699520	131551101	6	2786											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144881617	144881617	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr1:144881617A>T	ENST00000369354.3	-	25	3768	c.3579T>A	c.(3577-3579)gaT>gaA	p.D1193E	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D1330E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D1330E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D1193E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D1149E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1193					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGACTGGTTATCCAACTGTG	0.582			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													77	70	73					1																	144881617		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3579T>A	chr1.hg19:g.144881617A>T	ENSP00000358360:p.Asp1193Glu		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	hg19	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.120|0.120	-1.126364|-1.126364	0.01770|0.01770	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530592	T;T;T;T;T|.	0.01495|.	4.83;4.91;4.91;4.91;4.91|.	5.44|5.44	-2.4|-2.4	0.06583|0.06583	.|.	.|.	.|.	.|.	.|.	T|.	0.12135|.	0.0295|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999995|0.999995	B;B|.	0.12013|.	0.002;0.005|.	B;B|.	0.12156|.	0.004;0.007|.	T|.	0.34378|.	-0.9831|.	9|.	0.07175|.	T|.	0.84|.	.|.	6.5931|6.5931	0.22658|0.22658	0.3516:0.171:0.4774:0.0|0.3516:0.171:0.4774:0.0	.|.	1149;1193|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	E|K	1149;1193;1193;1330;1330|88	ENSP00000327209:D1149E;ENSP00000358360:D1193E;ENSP00000358363:D1193E;ENSP00000435654:D1330E;ENSP00000358366:D1330E|.	ENSP00000327209:D1149E|.	D|X	-|-	3|1	2|0	PDE4DIP|PDE4DIP	143592974|143592974	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.018000|0.018000	0.09664|0.09664	-0.226000|-0.226000	0.09139|0.09139	-0.300000|-0.300000	0.08895|0.08895	-0.256000|-0.256000	0.11100|0.11100	GAT|TAA		0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144881617	A	T	144881617	3	4	39	1	0	0	0	0	1	0	0	0	11645	446	16	5	3541	5	PDE4DIP	1	144881617	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	27182097	144881617	104369004	7	2787											
CCT3	7203	hgsc.bcm.edu	37	1	156279019	156279019	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr1:156279019C>G	ENST00000295688.3	-	14	1889	c.1609G>C	c.(1609-1611)Ggc>Cgc	p.G537R	CCT3_ENST00000368261.3_Missense_Mutation_p.G492R|CCT3_ENST00000472765.2_Missense_Mutation_p.G492R|CCT3_ENST00000368259.2_Missense_Mutation_p.G499R	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	537					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGAGCCCCGCCTTGCCGGCTC	0.537																																																0													112	119	116					1																	156279019		2203	4300	6503	SO:0001583	missense	7203			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1609G>C	chr1.hg19:g.156279019C>G	ENSP00000295688:p.Gly537Arg		A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	hg19	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276772	0.40294	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.78481	-1.18;-0.54;-0.61;-0.61	5.43	1.47	0.22746	.	0.687378	0.13466	N	0.385795	T	0.52403	0.1732	L	0.58101	1.795	0.26422	N	0.976086	B;B;B	0.27732	0.187;0.117;0.039	B;B;B	0.32342	0.144;0.068;0.089	T	0.47446	-0.9117	10	0.38643	T	0.18	-0.6586	3.7531	0.08575	0.17:0.5583:0.0:0.2717	.	499;536;537	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	R	537;499;492;492	ENSP00000295688:G537R;ENSP00000357242:G499R;ENSP00000357244:G492R;ENSP00000431543:G492R	ENSP00000295688:G537R	G	-	1	0	CCT3	154545643	0.035000	0.19736	0.167000	0.22817	0.977000	0.68977	0.217000	0.17603	0.117000	0.18138	0.650000	0.86243	GGC		0.537	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		G	156279019	C	G	156279019	3	3	39	1	0	0	0	0	1	0	0	0	2956	681	24	4	32	4	CCT3	1	156279019	Missense_Mutation	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	11397402	156279019	92971602	8	2788											
SPTA1	6708	hgsc.bcm.edu	37	1	158621173	158621173	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr1:158621173C>G	ENST00000368147.4	-	24	3641	c.3461G>C	c.(3460-3462)gGa>gCa	p.G1154A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1154					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATTTGAGCTCCTTCTGGTGT	0.438																																																0													209	207	208					1																	158621173		1885	4104	5989	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3461G>C	chr1.hg19:g.158621173C>G	ENSP00000357129:p.Gly1154Ala		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991563	0.35131	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.65178	-0.14;-0.14	4.66	4.66	0.58398	.	.	.	.	.	T	0.28067	0.0692	N	0.05574	-0.02	0.38698	D	0.952926	B	0.15930	0.015	B	0.26614	0.071	T	0.18555	-1.0333	9	0.51188	T	0.08	.	10.5066	0.44836	0.1931:0.8069:0.0:0.0	.	1154	P02549	SPTA1_HUMAN	A	1154	ENSP00000357130:G1154A;ENSP00000357129:G1154A	ENSP00000357129:G1154A	G	-	2	0	SPTA1	156887797	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	0.505000	0.22642	2.572000	0.86782	0.655000	0.94253	GGA		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158621173	C	G	158621173	3	3	39	1	0	0	0	0	1	0	0	0	15121	855	30	4	3914	4	SPTA1	1	158621173	Missense_Mutation	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	2342154	158621173	90629448	9	2789											
C1orf74	148304	hgsc.bcm.edu	37	1	209956492	209956492	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr1:209956492T>C	ENST00000294811.1	-	2	744	c.488A>G	c.(487-489)cAt>cGt	p.H163R		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	163										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GTCTGAGGAATGGAGCCTGCT	0.517																																																0													83	86	85					1																	209956492		2203	4300	6503	SO:0001583	missense	148304			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.488A>G	chr1.hg19:g.209956492T>C	ENSP00000294811:p.His163Arg			Missense_Mutation	SNP	ENST00000294811.1	hg19	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	T	6.835	0.523237	0.13066	.	.	ENSG00000162757	ENST00000294811	T	0.41400	1.0	5.51	-1.42	0.08913	.	1.329280	0.04580	N	0.394789	T	0.20861	0.0502	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11012	-1.0605	10	0.25106	T	0.35	0.017	1.6047	0.02681	0.2356:0.0875:0.2398:0.4371	.	163	Q96LT6	CA074_HUMAN	R	163	ENSP00000294811:H163R	ENSP00000294811:H163R	H	-	2	0	C1orf74	208023115	0.000000	0.05858	0.002000	0.10522	0.895000	0.52256	-0.733000	0.04898	-0.187000	0.10516	0.533000	0.62120	CAT		0.517	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		C	209956492	T	C	209956492	3	2	39	1	0	0	0	0	1	0	0	0	2060	1464	51	3	325	3	C1orf74	1	209956492	Missense_Mutation	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	51335319	209956492	39294129	10	2790											
USH2A	7399	hgsc.bcm.edu	37	1	216595303	216595303	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr1:216595303T>C	ENST00000307340.3	-	2	762	c.376A>G	c.(376-378)Agt>Ggt	p.S126G	USH2A_ENST00000366942.3_Missense_Mutation_p.S126G|USH2A_ENST00000366943.2_Missense_Mutation_p.S126G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	126					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAATAAAACTTGCAGAATTG	0.453										HNSCC(13;0.011)																																						0													96	94	95					1																	216595303		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.376A>G	chr1.hg19:g.216595303T>C	ENSP00000305941:p.Ser126Gly		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050033	0.75846	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.65732	-0.17;-0.17;-0.17	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);	0.000000	0.49916	U	0.000121	T	0.78329	0.4266	M	0.72118	2.19	0.53688	D	0.99997	D;D	0.89917	0.999;1.0	D;D	0.87578	0.96;0.998	T	0.81123	-0.1076	10	0.87932	D	0	.	15.45	0.75265	0.0:0.0:0.0:1.0	.	126;126	O75445-2;O75445	.;USH2A_HUMAN	G	126	ENSP00000305941:S126G;ENSP00000355910:S126G;ENSP00000355909:S126G	ENSP00000305941:S126G	S	-	1	0	USH2A	214661926	1.000000	0.71417	0.736000	0.30914	0.839000	0.47603	4.527000	0.60573	2.057000	0.61298	0.482000	0.46254	AGT		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216595303	T	C	216595303	3	2	39	1	0	0	0	0	1	0	0	0	17041	1609	56	3	15530	3	USH2A	1	216595303	Missense_Mutation	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	6638811	216595303	32655318	11	2791											
SMYD1	150572	hgsc.bcm.edu	37	2	88390544	88390544	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr2:88390544G>C	ENST00000419482.2	+	4	627	c.542G>C	c.(541-543)gGt>gCt	p.G181A	SMYD1_ENST00000444564.2_Missense_Mutation_p.G181A|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	181	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AACTGCAACGGTTTTACTCTC	0.493																																																0													172	171	171					2																	88390544		2203	4300	6503	SO:0001583	missense	150572			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.542G>C	chr2.hg19:g.88390544G>C	ENSP00000393453:p.Gly181Ala		A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	hg19	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911492	0.33721	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.11277	2.79;2.79	5.2	4.26	0.50523	SET domain (2);	0.095655	0.64402	D	0.000001	T	0.07324	0.0185	N	0.05230	-0.09	0.80722	D	1	P	0.36110	0.537	B	0.41332	0.354	T	0.49771	-0.8904	10	0.18276	T	0.48	-12.1291	15.8949	0.79326	0.0:0.217:0.783:0.0	.	181	Q8NB12	SMYD1_HUMAN	A	181;181;15	ENSP00000393453:G181A;ENSP00000407888:G181A	ENSP00000295833:G15A	G	+	2	0	SMYD1	88171659	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.135000	0.57997	2.575000	0.86900	0.561000	0.74099	GGT		0.493	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		C	88390544	G	C	88390544	3	2	39	1	0	0	0	0	1	0	0	0	14827	1261	44	4	556	4	SMYD1	2	88390544	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10		88390544	154808829	12	2792											
DDX18	8886	hgsc.bcm.edu	37	2	118578868	118578868	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr2:118578868G>A	ENST00000263239.2	+	4	774	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	216	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTCTGGAAGGCAGGTATGA	0.313																																																0													76	78	77					2																	118578868		2203	4299	6502	SO:0001583	missense	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.646G>A	chr2.hg19:g.118578868G>A	ENSP00000263239:p.Gly216Ser		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	hg19	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248238	0.95305	.	.	ENSG00000088205	ENST00000263239	T	0.18810	2.19	5.0	5.0	0.66597	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.049310	0.85682	N	0.000000	T	0.50429	0.1615	M	0.85945	2.785	0.80722	D	1	D	0.64830	0.994	D	0.66351	0.943	T	0.56643	-0.7945	10	0.87932	D	0	-0.8536	17.0203	0.86432	0.0:0.0:1.0:0.0	.	216	Q9NVP1	DDX18_HUMAN	S	216	ENSP00000263239:G216S	ENSP00000263239:G216S	G	+	1	0	DDX18	118295338	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.070000	0.93974	2.775000	0.95449	0.650000	0.86243	GGC		0.313	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		A	118578868	G	A	118578868	3	1	39	1	0	0	0	0	1	0	0	0	4347	1000	35	2	660	2	DDX18	2	118578868	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	30188324	118578868	124620505	13	2793											
LRP2	4036	hgsc.bcm.edu	37	2	170062024	170062024	+	Silent	SNP	A	A	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr2:170062024A>G	ENST00000263816.3	-	41	7965	c.7680T>C	c.(7678-7680)taT>taC	p.Y2560Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2560					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GGTCCTCTTCATAGTCCAGAG	0.483																																																0													118	109	112					2																	170062024		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7680T>C	chr2.hg19:g.170062024A>G			O00711|Q16215	Silent	SNP	ENST00000263816.3	hg19	CCDS2232.1																																																																																				0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170062024	A	G	170062024	2	3	39	1	0	0	0	0	0	0	0	1	8958	224	8	3		3	LRP2	2	170062024	Silent	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	51483156	170062024	73137349	14	2794											
TTN	7273	hgsc.bcm.edu	37	2	179466287	179466287	+	Silent	SNP	T	T	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr2:179466287T>A	ENST00000591111.1	-	237	50738	c.50514A>T	c.(50512-50514)gtA>gtT	p.V16838V	TTN_ENST00000359218.5_Silent_p.V9539V|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.V9414V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V18479V|TTN_ENST00000342992.6_Silent_p.V15911V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.V9606V|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16838					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)			GTGGGCCTGGTACATCTGTTG	0.393																																																0													190	172	178					2																	179466287		1883	4105	5988	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50514A>T	chr2.hg19:g.179466287T>A			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	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179466287	T	A	179466287	2	1	39	1	0	0	0	0	0	0	0	1	16740	1625	57	5		5	TTN	2	179466287	Silent	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	9404263	179466287	63733086	15	2795											
CALCRL	10203	hgsc.bcm.edu	37	2	188245407	188245407	+	Missense_Mutation	SNP	A	A	T	rs374525357		TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr2:188245407A>T	ENST00000409998.1	-	7	1073	c.292T>A	c.(292-294)Tca>Aca	p.S98T	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.S98T|CALCRL_ENST00000392370.3_Missense_Mutation_p.S98T|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	98					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.S98T(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CTTTTACCTGATGGATCAAAG	0.378																																																1	Substitution - Missense(1)	large_intestine(1)						A	THR/SER	0,4406		0,0,2203	70	68	68		292	2.8	1	2		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	CALCRL	NM_005795.4	58	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	benign	98/462	188245407	1,13005	2203	4300	6503	SO:0001583	missense	10203			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.292T>A	chr2.hg19:g.188245407A>T	ENSP00000386972:p.Ser98Thr		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	hg19	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	A	9.664	1.144967	0.21288	0.0	1.16E-4	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.52295	0.67;0.67;0.67	5.3	2.75	0.32379	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.53938	D	0.000056	T	0.20414	0.0491	N	0.04090	-0.28	0.47183	D	0.999341	B	0.09022	0.002	B	0.10450	0.005	T	0.07366	-1.0776	10	0.07813	T	0.8	.	9.1592	0.37012	0.7122:0.0:0.0:0.2878	.	98	Q16602	CALRL_HUMAN	T	98	ENSP00000376177:S98T;ENSP00000386972:S98T;ENSP00000387190:S98T	ENSP00000376177:S98T	S	-	1	0	CALCRL	187953652	1.000000	0.71417	0.993000	0.49108	0.940000	0.58332	5.513000	0.67037	1.005000	0.39183	0.460000	0.39030	TCA		0.378	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		T	188245407	A	T	188245407	3	4	39	1	0	0	0	0	1	0	0	0	2582	333	12	5	1133	5	CALCRL	2	188245407	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	8779120	188245407	54953966	16	2796											
CCNYL1	151195	hgsc.bcm.edu	37	2	208576635	208576635	+	Silent	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr2:208576635G>A	ENST00000295414.3	+	1	226	c.15G>A	c.(13-15)ctG>ctA	p.L5L	CCNYL1_ENST00000339882.5_Silent_p.L5L|CCNYL1_ENST00000392209.3_Intron|CCNYL1_ENST00000420822.1_Silent_p.L5L			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	5					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		GGAACACGCTGACCTGTTGCG	0.711																																																0													14	25	22					2																	208576635		689	1587	2276	SO:0001819	synonymous_variant	151195			AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.15G>A	chr2.hg19:g.208576635G>A			Q6NX60	Silent	SNP	ENST00000295414.3	hg19																																																																																					0.711	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	NM_152523		A	208576635	G	A	208576635	2	1	39	1	0	0	0	0	0	0	0	1	2939	1277	45	2		2	CCNYL1	2	208576635	Silent	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	20331228	208576635	34622738	17	2797											
ITM2C	81618	hgsc.bcm.edu	37	2	231741620	231741620	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr2:231741620G>C	ENST00000326427.6	+	4	625	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	ITM2C_ENST00000326407.6_Intron|ITM2C_ENST00000409704.2_Missense_Mutation_p.E105Q|ITM2C_ENST00000335005.6_Missense_Mutation_p.E120Q|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	167	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTATGTCATCGAACTCAACAC	0.577																																																0													178	160	166					2																	231741620		2203	4300	6503	SO:0001583	missense	81618			AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"BRICHOS domain containing"	6175	protein-coding gene	gene with protein product	"BRICHOS domain containing 2C"	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.499G>C	chr2.hg19:g.231741620G>C	ENSP00000322730:p.Glu167Gln		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	hg19	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949503	0.92660	.	.	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.8	5.8	0.92144	BRICHOS (2);	0.000000	0.85682	D	0.000000	D	0.85978	0.5823	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86536	0.1825	10	0.72032	D	0.01	-1.6305	15.5631	0.76266	0.0:0.0:1.0:0.0	.	120;167	Q9NQX7-2;Q9NQX7	.;ITM2C_HUMAN	Q	167;105;167;120;105;105;105	ENSP00000390655:E167Q;ENSP00000440295:E105Q;ENSP00000322730:E167Q;ENSP00000335121:E120Q;ENSP00000444899:E105Q;ENSP00000387242:E105Q;ENSP00000403257:E105Q	ENSP00000322730:E167Q	E	+	1	0	ITM2C	231449864	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.243000	0.72384	2.735000	0.93741	0.655000	0.94253	GAA		0.577	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		C	231741620	G	C	231741620	3	2	39	1	0	0	0	0	1	0	0	0	7916	1059	37	4	513	4	ITM2C	2	231741620	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	23164985	231741620	11457753	18	2798											
SEC13	6396	hgsc.bcm.edu	37	3	10346761	10346761	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr3:10346761G>A	ENST00000350697.3	-	7	789	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S	SEC13_ENST00000397109.3_Missense_Mutation_p.P208S|SEC13_ENST00000492602.1_5'Flank|SEC13_ENST00000397117.1_Missense_Mutation_p.P208S|SEC13_ENST00000337354.4_Missense_Mutation_p.P225S|SEC13_ENST00000383801.2_Missense_Mutation_p.P268S	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	222					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CCGATGGAGGGGGCCCAGGCC	0.612																																																0													99	91	93					3																	10346761		2203	4300	6503	SO:0001583	missense	6396				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"WD repeat domain containing"	10697	protein-coding gene	gene with protein product		600152	"SEC13 (S. cerevisiae)-like 1", "SEC13-like 1 (S. cerevisiae)"	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.664C>T	chr3.hg19:g.10346761G>A	ENSP00000312122:p.Pro222Ser		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	hg19	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123386	0.94429	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	M	0.72576	2.205	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	T	0.82995	-0.0180	9	.	.	.	.	17.1466	0.86767	0.0:0.0:1.0:0.0	.	222;208;268;222	E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;SEC13_HUMAN	S	208;225;222;208;268	ENSP00000380298:P208S;ENSP00000336566:P225S;ENSP00000312122:P222S;ENSP00000380306:P208S;ENSP00000373312:P268S	.	P	-	1	0	SEC13	10321761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.727000	0.98787	2.646000	0.89796	0.655000	0.94253	CCC		0.612	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			A	10346761	G	A	10346761	3	1	39	1	0	0	0	0	1	0	0	0	13986	1232	43	2	316	2	SEC13	3	10346761	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10		10346761	187675669	19	2799											
CTNNB1	1499	hgsc.bcm.edu	37	3	41268729	41268729	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr3:41268729G>C	ENST00000349496.5	+	7	1247	c.967G>C	c.(967-969)Gct>Cct	p.A323P	CTNNB1_ENST00000405570.1_Missense_Mutation_p.A323P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.A323P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A316P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A323P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	323					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGACCCCAAGCTTTAGTAAA	0.398		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	0													70	74	73					3																	41268729		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.967G>C	chr3.hg19:g.41268729G>C	ENSP00000344456:p.Ala323Pro		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625073	0.66901	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	L	0.47716	1.5	0.80722	D	1	B;B	0.25105	0.054;0.118	B;B	0.23574	0.032;0.047	T	0.52653	-0.8547	10	0.25751	T	0.34	3.006	19.382	0.94540	0.0:0.0:1.0:0.0	.	251;323	B4DSW9;P35222	.;CTNB1_HUMAN	P	323;323;323;316;323	ENSP00000385604:A323P;ENSP00000379486:A323P;ENSP00000344456:A323P;ENSP00000411226:A316P;ENSP00000379488:A323P	ENSP00000344456:A323P	A	+	1	0	CTNNB1	41243733	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.591000	0.87537	0.591000	0.81541	GCT		0.398	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		C	41268729	G	C	41268729	3	2	39	1	0	0	0	0	1	0	0	0	4018	971	34	4	989	4	CTNNB1	3	41268729	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	30921968	41268729	156753701	20	2800											
DAG1	1605	hgsc.bcm.edu	37	3	49568721	49568721	+	Silent	SNP	C	C	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr3:49568721C>G	ENST00000539901.1	+	3	1335	c.777C>G	c.(775-777)tcC>tcG	p.S259S	DAG1_ENST00000545947.1_Silent_p.S259S|DAG1_ENST00000541308.1_Silent_p.S259S|DAG1_ENST00000308775.2_Silent_p.S259S|DAG1_ENST00000515359.2_Silent_p.S259S|DAG1_ENST00000538711.1_Silent_p.S259S	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	259	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCCTTCTCTCCTGGAAGCTGG	0.557																																																0													64	69	67					3																	49568721		2203	4300	6503	SO:0001819	synonymous_variant	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.777C>G	chr3.hg19:g.49568721C>G			A8K6M7|Q969J9	Silent	SNP	ENST00000539901.1	hg19	CCDS2799.1																																																																																				0.557	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			G	49568721	C	G	49568721	2	3	39	1	0	0	0	0	0	0	0	1	4227	668	24	4		4	DAG1	3	49568721	Silent	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	8299992	49568721	148453709	21	2801											
CACNA1D	776	hgsc.bcm.edu	37	3	53845165	53845165	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr3:53845165G>A	ENST00000350061.5	+	48	6729	c.6218G>A	c.(6217-6219)cGc>cAc	p.R2073H	CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R2093H|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R2049H	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2073					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCTTGGGACGCTATGCAAGG	0.522																																																0													100	97	98					3																	53845165		2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6218G>A	chr3.hg19:g.53845165G>A	ENSP00000288133:p.Arg2073His		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	hg19	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033345	0.54896	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.39	5.39	0.77823	.	0.320794	0.25083	N	0.033278	T	0.72391	0.3454	M	0.77103	2.36	0.80722	D	1	D;B;B;D	0.76494	0.996;0.051;0.051;0.999	P;B;B;P	0.62184	0.655;0.009;0.006;0.899	T	0.72937	-0.4140	10	0.48119	T	0.1	.	19.5276	0.95213	0.0:0.0:1.0:0.0	.	2049;1766;2073;2093	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	H	2073;2093;2049;1766	ENSP00000288133:R2073H;ENSP00000288139:R2093H;ENSP00000409174:R2049H;ENSP00000418014:R1766H	ENSP00000288139:R2093H	R	+	2	0	CACNA1D	53820205	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	3.789000	0.55454	2.710000	0.92621	0.655000	0.94253	CGC		0.522	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		A	53845165	G	A	53845165	3	1	39	1	0	0	0	0	1	0	0	0	2543	1087	38	1	6580	1	CACNA1D	3	53845165	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	4276444	53845165	144177265	22	2802											
C3orf63	23272	hgsc.bcm.edu	37	3	56694957	56694957	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr3:56694957A>C	ENST00000493960.2	-	10	1259	c.1249T>G	c.(1249-1251)Tta>Gta	p.L417V	FAM208A_ENST00000355628.5_Missense_Mutation_p.L417V|FAM208A_ENST00000431842.2_Missense_Mutation_p.L21V	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	417							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTTGGACCTAAGTATGTTTCC	0.299																																																0													108	109	109					3																	56694957		2202	4299	6501	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1249T>G	chr3.hg19:g.56694957A>C	ENSP00000417509:p.Leu417Val		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	hg19	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	A	3.516	-0.098806	0.07010	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11821	2.74;2.88;2.88	5.8	0.493	0.16878	.	0.773939	0.11384	N	0.569476	T	0.05318	0.0141	N	0.05383	-0.06	0.20307	N	0.999914	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.44726	-0.9309	10	0.15066	T	0.55	-0.0154	4.2051	0.10485	0.3113:0.4663:0.1139:0.1085	.	417;417;21	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	V	21;417;417	ENSP00000399410:L21V;ENSP00000417509:L417V;ENSP00000347845:L417V	ENSP00000347845:L417V	L	-	1	2	C3orf63	56669997	0.306000	0.24490	0.992000	0.48379	0.983000	0.72400	-0.247000	0.08866	0.067000	0.16545	0.460000	0.39030	TTA		0.299	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		C	56694957	A	C	56694957	3	2	39	1	0	0	0	0	1	0	0	0	2241	69	3	5	3883	5	C3orf63	3	56694957	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	2849792	56694957	141327473	23	2803											
PARL	55486	hgsc.bcm.edu	37	3	183602589	183602589	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr3:183602589C>A	ENST00000317096.4	-	1	106	c.46G>T	c.(46-48)Gcg>Tcg	p.A16S	PARL_ENST00000311101.5_Missense_Mutation_p.A16S|PARL_ENST00000435888.1_Missense_Mutation_p.A16S|RP11-315J22.5_ENST00000445165.1_RNA|MIR4448_ENST00000584360.1_RNA	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	16					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCACCCCACGCCTGGCCGCAG	0.711											OREG0015941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													8	9	9					3																	183602589		2142	4197	6339	SO:0001583	missense	55486			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.46G>T	chr3.hg19:g.183602589C>A	ENSP00000325421:p.Ala16Ser	1985	Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	hg19	CCDS3248.1	.	.	.	.	.	.	.	.	.	.	C	4.654	0.121534	0.08881	.	.	ENSG00000175193	ENST00000317096;ENST00000311101;ENST00000435888	T;T;T	0.74947	-0.89;-0.89;-0.89	4.72	2.9	0.33743	.	0.347388	0.23680	N	0.045621	T	0.53786	0.1818	N	0.12182	0.205	0.26225	N	0.979108	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.50039	-0.8874	10	0.66056	D	0.02	-4.6318	7.7714	0.29010	0.0:0.8057:0.0:0.1943	.	16;16	Q9H300-2;Q9H300	.;PARL_HUMAN	S	16	ENSP00000325421:A16S;ENSP00000310676:A16S;ENSP00000402137:A16S	ENSP00000310676:A16S	A	-	1	0	PARL	185085283	0.667000	0.27484	0.913000	0.36048	0.025000	0.11179	0.254000	0.18314	0.693000	0.31634	0.655000	0.94253	GCG		0.711	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		A	183602589	C	A	183602589	3	1	39	1	0	0	0	0	1	0	0	0	11453	739	26	4	1133	4	PARL	3	183602589	Missense_Mutation	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	126907632	183602589	14419841	24	2804											
SLC2A9	56606	hgsc.bcm.edu	37	4	10022970	10022970	+	Silent	SNP	C	C	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr4:10022970C>T	ENST00000264784.3	-	1	137	c.84G>A	c.(82-84)ggG>ggA	p.G28G	SLC2A9_ENST00000309065.3_Intron|SLC2A9_ENST00000506583.1_Intron	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	28					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CCCTCCCTGGCCCTGGAGGCC	0.587																																																0													126	136	133					4																	10022970		2203	4300	6503	SO:0001819	synonymous_variant	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.84G>A	chr4.hg19:g.10022970C>T			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	hg19	CCDS3407.1																																																																																				0.587	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			T	10022970	C	T	10022970	2	4	39	1	0	0	0	0	0	0	0	1	14558	726	26	2		2	SLC2A9	4	10022970	Silent	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10		10022970	181131306	25	2805											
FAT4	79633	hgsc.bcm.edu	37	4	126372770	126372770	+	Silent	SNP	T	T	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr4:126372770T>C	ENST00000394329.3	+	9	10612	c.10599T>C	c.(10597-10599)acT>acC	p.T3533T	FAT4_ENST00000335110.5_Silent_p.T1831T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3533	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCAGTCCACTGACCCTGATC	0.483																																																0													120	119	120					4																	126372770		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10599T>C	chr4.hg19:g.126372770T>C			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	hg19	CCDS3732.3																																																																																				0.483	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126372770	T	C	126372770	2	2	39	1	0	0	0	0	0	0	0	1	5694	1567	55	3		3	FAT4	4	126372770	Silent	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	116349800	126372770	64781506	26	2806											
CDH9	1007	hgsc.bcm.edu	37	5	26890623	26890623	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr5:26890623G>A	ENST00000231021.4	-	8	1476	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	435	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACCATTTTCTGAGTGAATACC	0.403																																					Melanoma(8;187 585 15745 40864 52829)											0													102	102	102					5																	26890623		2203	4300	6503	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1304C>T	chr5.hg19:g.26890623G>A	ENSP00000231021:p.Ser435Leu		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	hg19	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362967	0.61403	.	.	ENSG00000113100	ENST00000231021	T	0.53206	0.63	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.301425	0.32736	N	0.005707	T	0.66257	0.2771	M	0.90595	3.13	0.53688	D	0.999978	B;B	0.26041	0.14;0.092	B;B	0.41174	0.219;0.349	T	0.67601	-0.5629	9	.	.	.	.	17.0519	0.86521	0.0:0.0:1.0:0.0	.	28;435	B4DFP0;Q9ULB4	.;CADH9_HUMAN	L	435	ENSP00000231021:S435L	.	S	-	2	0	CDH9	26926380	1.000000	0.71417	0.716000	0.30569	0.693000	0.40251	9.825000	0.99386	2.385000	0.81259	0.453000	0.30009	TCA		0.403	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		A	26890623	G	A	26890623	3	1	39	1	0	0	0	0	1	0	0	0	3119	1294	45	2	1085	2	CDH9	5	26890623	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10		26890623	154024637	27	2807											
HMGCS1	3157	hgsc.bcm.edu	37	5	43294862	43294863	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr5:43294862_43294863insGT	ENST00000325110.6	-	7	1212_1213	c.1006_1007insAC	c.(1006-1008)cttfs	p.L336fs	HMGCS1_ENST00000433297.2_Frame_Shift_Ins_p.L336fs	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	336					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ATTTGATACAAGTAAAGATGCC	0.356																																																0																																										SO:0001589	frameshift_variant	3157				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"	142940	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.1005_1006dupAC	chr5.hg19:g.43294863_43294864dupGT	ENSP00000322706:p.Leu336fs		B2RDL8	Frame_Shift_Ins	INS	ENST00000325110.6	hg19	CCDS34154.1																																																																																				0.356	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			GT	43294863	-	GT	43294862	7	5	39	1	0	1	1	0	0	0	0	0	7234	72	3	0	575	0	HMGCS1	5	43294862	Frame_Shift_Ins	INS	-	TCGA-5P-A9KE-01A-11D-A42J-10	16404239	43294862	137620398	28	2808											
C5orf35	133383	hgsc.bcm.edu	37	5	56207069	56207069	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr5:56207069A>C	ENST00000285947.2	+	2	558	c.172A>C	c.(172-174)Aaa>Caa	p.K58Q	SETD9_ENST00000541720.1_Missense_Mutation_p.K58Q|SETD9_ENST00000475908.1_Intron|AC008937.3_ENST00000453721.1_RNA	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	58							methyltransferase activity (GO:0008168)										AACATTACTGAAAGTTTTCCA	0.358																																																0													41	43	42					5																	56207069		2202	4300	6502	SO:0001583	missense	133383			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 35"	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.172A>C	chr5.hg19:g.56207069A>C	ENSP00000285947:p.Lys58Gln		F5H713	Missense_Mutation	SNP	ENST00000285947.2	hg19	CCDS3972.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525967	0.27299	.	.	ENSG00000155542	ENST00000285947;ENST00000541720;ENST00000423328	T;T	0.32023	1.48;1.47	5.3	1.52	0.23074	.	0.646198	0.16385	N	0.216710	T	0.23611	0.0571	L	0.50333	1.59	0.24433	N	0.994567	B	0.11235	0.004	B	0.06405	0.002	T	0.21211	-1.0252	10	0.27785	T	0.31	-11.5557	6.4957	0.22140	0.7288:0.1316:0.1396:0.0	.	58	Q8NE22	CE035_HUMAN	Q	58;58;32	ENSP00000285947:K58Q;ENSP00000442886:K58Q	ENSP00000285947:K58Q	K	+	1	0	C5orf35	56242826	0.995000	0.38212	0.994000	0.49952	0.992000	0.81027	0.899000	0.28417	0.026000	0.15269	0.533000	0.62120	AAA		0.358	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		C	56207069	A	C	56207069	3	2	39	1	0	0	0	0	1	0	0	0	2296	247	9	5	178	5	C5orf35	5	56207069	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	12912207	56207069	124708191	29	2809											
POU5F2	134187	hgsc.bcm.edu	37	5	93076952	93076952	+	Silent	SNP	G	G	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr5:93076952G>C	ENST00000510627.4	-	1	391	c.318C>G	c.(316-318)gcC>gcG	p.A106A	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'Flank	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	106					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TGCTCCGCAGGGCAATGTAGG	0.637																																																0													52	51	51					5																	93076952		1903	4113	6016	SO:0001819	synonymous_variant	134187				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.318C>G	chr5.hg19:g.93076952G>C			Q15169|Q6MZL7|Q8N748	Silent	SNP	ENST00000510627.4	hg19	CCDS59489.1																																																																																				0.637	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		C	93076952	G	C	93076952	2	2	39	1	0	0	0	0	0	0	0	1	12285	1219	43	4		4	POU5F2	5	93076952	Silent	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	36869883	93076952	87838308	30	2810											
C5orf13	9315	hgsc.bcm.edu	37	5	111312420	111312420	+	Intron	SNP	T	T	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr5:111312420T>A	ENST00000450761.2	-	1	141				NREP-AS1_ENST00000503242.1_RNA|NREP_ENST00000395634.3_Missense_Mutation_p.N6I|NREP-AS1_ENST00000507222.1_RNA			Q16612	NREP_HUMAN	neuronal regeneration related protein						axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCAGAATAATTCCAAACTCC	0.398																																																0													196	165	175					5																	111312420		692	1591	2283	SO:0001627	intron_variant	9315			AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"neuronal protein 3.1"	607332	"chromosome 5 open reading frame 13", "neuronal regeneration related protein homolog (rat)"	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000450761.2:c.57+20600A>T	chr5.hg19:g.111312420T>A			B2RDN8|B7Z5D2|D3DSZ8	Missense_Mutation	SNP	ENST00000450761.2	hg19	CCDS4105.1	.	.	.	.	.	.	.	.	.	.	T	7.833	0.720334	0.15372	.	.	ENSG00000134986	ENST00000395634	T	0.51325	0.71	4.17	-5.73	0.02398	.	.	.	.	.	T	0.30039	0.0752	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31308	-0.9948	8	0.87932	D	0	.	5.377	0.16170	0.266:0.4746:0.0:0.2595	.	6	B7Z5D2	.	I	6	ENSP00000378996:N6I	ENSP00000378996:N6I	N	-	2	0	C5orf13	111340319	0.000000	0.05858	0.000000	0.03702	0.578000	0.36192	-0.626000	0.05527	-1.222000	0.02587	-0.301000	0.09380	AAT		0.398	NREP-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370888.1	NM_004772		A	111312420	T	A	111312420	1	1	39	0	1	0	0	0	0	0	0	0	2284	1493	52	5		5	C5orf13	5	111312420	Intron	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	18235468	111312420	69602840	31	2811											
CEP120	153241	hgsc.bcm.edu	37	5	122713195	122713195	+	Missense_Mutation	SNP	C	C	T	rs376401743		TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr5:122713195C>T	ENST00000306467.5	-	16	2535	c.2231G>A	c.(2230-2232)cGt>cAt	p.R744H	CEP120_ENST00000328236.5_Missense_Mutation_p.R744H|CEP120_ENST00000306481.6_Missense_Mutation_p.R718H			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	744					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GTTCCGCTGACGTTCTGATTG	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16908	0.0		0.0	False		,,,				2504	0.0															0													182	167	172					5																	122713195		2203	4300	6503	SO:0001583	missense	153241			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2231G>A	chr5.hg19:g.122713195C>T	ENSP00000303058:p.Arg744His		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	hg19	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485237	0.26598	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.82	4.84	0.62591	.	0.362557	0.31922	N	0.006848	T	0.09468	0.0233	N	0.00210	-1.845	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33189	-0.9878	10	0.11182	T	0.66	-14.0862	7.0171	0.24895	0.0:0.8097:0.0:0.1903	.	744	Q8N960	CE120_HUMAN	H	744;744;718;718	ENSP00000303058:R744H;ENSP00000327504:R744H;ENSP00000307419:R718H;ENSP00000421620:R718H	ENSP00000303058:R744H	R	-	2	0	CEP120	122741094	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	3.469000	0.53093	2.767000	0.95098	0.655000	0.94253	CGT		0.398	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		T	122713195	C	T	122713195	3	4	39	1	0	0	0	0	1	0	0	0	3248	536	19	1	749	1	CEP120	5	122713195	Missense_Mutation	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	11400775	122713195	58202065	32	2812											
NPM1	4869	hgsc.bcm.edu	37	5	170814986	170814986	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr5:170814986C>A	ENST00000296930.5	+	1	335	c.34C>A	c.(34-36)Ctg>Atg	p.L12M	NPM1_ENST00000351986.6_Missense_Mutation_p.L12M|NPM1_ENST00000517671.1_Missense_Mutation_p.L12M|NPM1_ENST00000393820.2_Missense_Mutation_p.L12M|MIR3912_ENST00000577566.1_RNA	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	12	Necessary for interaction with APEX1.|Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATGAGCCCCCTGAGGCCCCA	0.622			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	0													23	27	26					5																	170814986		2203	4296	6499	SO:0001583	missense	4869			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.34C>A	chr5.hg19:g.170814986C>A	ENSP00000296930:p.Leu12Met		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	ENST00000296930.5	hg19	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	c	17.74	3.464060	0.63513	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000351986;ENST00000393820;ENST00000523622	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	4.27	2.47	0.30058	Nucleoplasmin core (2);	0.179442	0.34802	U	0.003663	T	0.55369	0.1916	L	0.56199	1.76	0.26244	N	0.978822	P;P;D	0.56746	0.619;0.94;0.977	B;P;D	0.64687	0.132;0.481;0.928	T	0.44221	-0.9342	10	0.31617	T	0.26	.	8.1166	0.30946	0.0:0.8033:0.0:0.1967	.	12;12;12	P06748-2;P06748;Q9BYG9	.;NPM_HUMAN;.	M	12	ENSP00000428755:L12M;ENSP00000296930:L12M;ENSP00000341168:L12M;ENSP00000377408:L12M	ENSP00000296930:L12M	L	+	1	2	NPM1	170747591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.062000	0.30555	0.372000	0.24591	0.472000	0.43445	CTG		0.622	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		A	170814986	C	A	170814986	3	1	39	1	0	0	0	0	1	0	0	0	10589	680	24	4	36	4	NPM1	5	170814986	Missense_Mutation	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	48101791	170814986	10100274	33	2813											
ABCF1	23	hgsc.bcm.edu	37	6	30558445	30558445	+	Silent	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr6:30558445G>A	ENST00000326195.8	+	25	2617	c.2505G>A	c.(2503-2505)ctG>ctA	p.L835L	ABCF1_ENST00000396515.4_Silent_p.L228L|ABCF1_ENST00000376545.3_Silent_p.L797L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	835	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGAGGCCCTGGGTGAAGTCA	0.552																																																0													161	178	172					6																	30558445		1510	2708	4218	SO:0001819	synonymous_variant	23			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2505G>A	chr6.hg19:g.30558445G>A			A2BF75|O14897|Q69YP6	Silent	SNP	ENST00000326195.8	hg19	CCDS34380.1																																																																																				0.552	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			A	30558445	G	A	30558445	2	1	39	1	0	0	0	0	0	0	0	1	65	1335	47	2		2	ABCF1	6	30558445	Silent	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10		30558445	140556622	34	2814											
RPL10A	4736	hgsc.bcm.edu	37	6	35437954	35437954	+	Splice_Site	SNP	A	A	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr6:35437954A>G	ENST00000322203.6	+	5	337		c.e5-1		RPL10A_ENST00000467020.1_Splice_Site	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a						anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						TCTCTCTATCAGCCAAGAAGT	0.483																																																0													93	85	88					6																	35437954		2203	4300	6503	SO:0001630	splice_region_variant	4736			U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.311-1A>G	chr6.hg19:g.35437954A>G			B2R801|P52859|P53025|Q5TZT6|Q8J013	Splice_Site	SNP	ENST00000322203.6	hg19	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	A	8.257	0.810319	0.16537	.	.	ENSG00000198755	ENST00000322203	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0737	0.48019	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL10A	35545932	1.000000	0.71417	0.929000	0.37066	0.230000	0.25150	5.893000	0.69798	1.788000	0.52465	0.460000	0.39030	.		0.483	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104	Intron	G	35437954	A	G	35437954	5	3	39	1	0	0	0	0	0	0	1	0	13561	202	7	3	327	3	RPL10A	6	35437954	Splice_Site	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	4879509	35437954	135677113	35	2815											
C6orf64	55776	hgsc.bcm.edu	37	6	39082699	39082699	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr6:39082699G>C	ENST00000229903.4	-	1	266	c.167C>G	c.(166-168)cCt>cGt	p.P56R	SAYSD1_ENST00000481599.1_5'UTR	NM_018322.1	NP_060792.1	Q9NPB0	SMDC1_HUMAN	SAYSVFN motif domain containing 1	56						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)											CGCGGGCCTAGGTTTCCATAC	0.657																																																0													36	43	41					6																	39082699		2203	4300	6503	SO:0001583	missense	55776			BC022007	CCDS4840.1	6p21.1	2011-12-13	2011-12-13	2011-12-13	ENSG00000112167	ENSG00000112167			21025	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 64"	C6orf64			Standard	XM_005249222		Approved	FLJ11101	uc003ook.1	Q9NPB0	OTTHUMG00000014641	ENST00000229903.4:c.167C>G	chr6.hg19:g.39082699G>C	ENSP00000229903:p.Pro56Arg		Q9H0D8	Missense_Mutation	SNP	ENST00000229903.4	hg19	CCDS4840.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082573	0.36758	.	.	ENSG00000112167	ENST00000229903	.	.	.	5.15	0.0579	0.14325	.	0.551296	0.18522	N	0.138727	T	0.20210	0.0486	M	0.66939	2.045	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24297	-1.0164	9	0.51188	T	0.08	-11.0707	4.3846	0.11311	0.3584:0.1591:0.4825:0.0	.	56	Q9NPB0	CF064_HUMAN	R	56	.	ENSP00000229903:P56R	P	-	2	0	C6orf64	39190677	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.087000	0.14958	0.144000	0.18951	-0.140000	0.14226	CCT		0.657	SAYSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040448.1	NM_018322		C	39082699	G	C	39082699	3	2	39	1	0	0	0	0	1	0	0	0	2371	1000	35	4	392	4	C6orf64	6	39082699	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	3644745	39082699	132032368	36	2816											
SLC29A1	2030	hgsc.bcm.edu	37	6	44201182	44201182	+	Missense_Mutation	SNP	G	G	C	rs74750454		TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr6:44201182G>C	ENST00000393841.1	+	14	1779	c.1288G>C	c.(1288-1290)Gca>Cca	p.A430P	SLC29A1_ENST00000371724.1_Missense_Mutation_p.A430P|SLC29A1_ENST00000371708.1_Missense_Mutation_p.A430P|SLC29A1_ENST00000371713.1_Missense_Mutation_p.A430P|SLC29A1_ENST00000393844.1_Missense_Mutation_p.A430P|SLC29A1_ENST00000371740.5_Missense_Mutation_p.A430P|SLC29A1_ENST00000371755.3_Missense_Mutation_p.A430P|SLC29A1_ENST00000427851.2_Missense_Mutation_p.A430P|SLC29A1_ENST00000313248.7_Missense_Mutation_p.A509P|SLC29A1_ENST00000371731.1_Missense_Mutation_p.A430P	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	430					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GGCAGAGACCGCAGGAGCCAT	0.577																																																0													161	151	155					6																	44201182		2203	4300	6503	SO:0001583	missense	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1288G>C	chr6.hg19:g.44201182G>C	ENSP00000377424:p.Ala430Pro		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	hg19	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729616	0.89390	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.92701	0.7680	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94086	0.7348	10	0.87932	D	0	-13.2332	19.2711	0.94010	0.0:0.0:1.0:0.0	.	509;430	B3KQV7;Q99808	.;S29A1_HUMAN	P	430;509;430;430;430;430;430;430;430;430	ENSP00000377427:A430P;ENSP00000319152:A509P;ENSP00000392668:A430P;ENSP00000360820:A430P;ENSP00000360805:A430P;ENSP00000360796:A430P;ENSP00000377424:A430P;ENSP00000360789:A430P;ENSP00000360778:A430P;ENSP00000360773:A430P	ENSP00000319152:A509P	A	+	1	0	SLC29A1	44309160	1.000000	0.71417	0.076000	0.20297	0.725000	0.41563	8.890000	0.92477	2.789000	0.95967	0.655000	0.94253	GCA		0.577	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			C	44201182	G	C	44201182	3	2	39	1	0	0	0	0	1	0	0	0	14540	1087	38	4	1334	4	SLC29A1	6	44201182	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	5118483	44201182	126913885	37	2817											
GPRC6A	222545	hgsc.bcm.edu	37	6	117121778	117121778	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr6:117121778T>A	ENST00000310357.3	-	4	1538	c.1517A>T	c.(1516-1518)cAg>cTg	p.Q506L	GPRC6A_ENST00000530250.1_Missense_Mutation_p.Q331L|GPRC6A_ENST00000368549.3_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	506					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTTTGTTTCCTGATCTGGGAT	0.423																																																0													191	166	175					6																	117121778		2203	4300	6503	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1517A>T	chr6.hg19:g.117121778T>A	ENSP00000309493:p.Gln506Leu		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	hg19	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	T	7.166	0.586705	0.13749	.	.	ENSG00000173612	ENST00000310357;ENST00000530250	D;D	0.90955	-2.52;-2.76	5.13	3.93	0.45458	.	0.408254	0.20735	N	0.086659	T	0.66356	0.2781	N	0.08118	0	0.25789	N	0.984637	B;B	0.21309	0.014;0.054	B;B	0.17433	0.018;0.008	T	0.59220	-0.7495	10	0.52906	T	0.07	.	7.3059	0.26447	0.0:0.0751:0.1437:0.7812	.	331;506	Q5T6X5-2;Q5T6X5	.;GPC6A_HUMAN	L	506;331	ENSP00000309493:Q506L;ENSP00000433465:Q331L	ENSP00000309493:Q506L	Q	-	2	0	GPRC6A	117228471	0.988000	0.35896	0.966000	0.40874	0.067000	0.16453	3.221000	0.51215	2.159000	0.67721	0.477000	0.44152	CAG		0.423	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			A	117121778	T	A	117121778	3	1	39	1	0	0	0	0	1	0	0	0	6730	1580	55	5	1275	5	GPRC6A	6	117121778	Missense_Mutation	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	72920596	117121778	53993289	38	2818											
DNAJC30	84277	hgsc.bcm.edu	37	7	73097483	73097483	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr7:73097483A>G	ENST00000395176.2	-	1	300	c.271T>C	c.(271-273)Ttc>Ctc	p.F91L	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	91	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						ATGCGCGTGAAGCGCTCGGCG	0.667																																																0													51	60	57					7																	73097483		2201	4297	6498	SO:0001583	missense	84277			AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"Heat shock proteins / DNAJ (HSP40)"	16410	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 18"	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.271T>C	chr7.hg19:g.73097483A>G	ENSP00000378605:p.Phe91Leu		Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	hg19	CCDS5556.1	.	.	.	.	.	.	.	.	.	.	A	36	5.928610	0.97116	.	.	ENSG00000176410	ENST00000395176;ENST00000539255	T	0.46063	0.88	5.15	5.15	0.70609	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66732	-0.5849	10	0.87932	D	0	-8.5361	12.9762	0.58538	1.0:0.0:0.0:0.0	.	91	Q96LL9	DJC30_HUMAN	L	91;88	ENSP00000378605:F91L	ENSP00000378605:F91L	F	-	1	0	DNAJC30	72735419	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.811000	0.86092	2.160000	0.67779	0.528000	0.53228	TTC		0.667	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2			G	73097483	A	G	73097483	3	3	39	1	0	0	0	0	1	0	0	0	4650	72	3	3	413	3	DNAJC30	7	73097483	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10		73097483	86041180	39	2819											
COPS6	10980	hgsc.bcm.edu	37	7	99686979	99686979	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr7:99686979T>C	ENST00000303904.3	+	2	180	c.143T>C	c.(142-144)aTt>aCt	p.I48T	COPS6_ENST00000418625.1_Missense_Mutation_p.I47T	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	48	MPN.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCCTTGTCATTCTCAACATC	0.587																																																0													150	139	143					7																	99686979		2203	4300	6503	SO:0001583	missense	10980			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.143T>C	chr7.hg19:g.99686979T>C	ENSP00000304102:p.Ile48Thr		A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	hg19	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	T	31	5.072932	0.93950	.	.	ENSG00000168090	ENST00000303904;ENST00000419210;ENST00000418625	T;T	0.55413	0.52;0.52	5.65	4.5	0.54988	.	0.060020	0.64402	N	0.000004	T	0.74574	0.3734	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.79784	0.993;0.961	T	0.78048	-0.2356	10	0.87932	D	0	-12.4631	9.559	0.39357	0.0:0.0815:0.0:0.9185	.	48;48	B4DHR8;Q7L5N1	.;CSN6_HUMAN	T	48;18;47	ENSP00000304102:I48T;ENSP00000400617:I47T	ENSP00000304102:I48T	I	+	2	0	COPS6	99524915	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.150000	0.77403	1.160000	0.42584	0.533000	0.62120	ATT		0.587	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		C	99686979	T	C	99686979	3	2	39	1	0	0	0	0	1	0	0	0	3739	1493	52	3	149	3	COPS6	7	99686979	Missense_Mutation	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	26589496	99686979	59451684	40	2820											
DUS4L	11062	hgsc.bcm.edu	37	7	107217029	107217029	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr7:107217029G>T	ENST00000265720.3	+	7	1060	c.698G>T	c.(697-699)gGg>gTg	p.G233V	RP4-593H12.1_ENST00000610269.1_RNA|DUS4L_ENST00000402620.1_Missense_Mutation_p.G112V	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	233							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						CGGATTACTGGGACAGATGGT	0.343																																																0													48	49	49					7																	107217029		2203	4300	6503	SO:0001583	missense	11062			U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"protein similar to E.coli yhdg and R. capsulatus nifR3"						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.698G>T	chr7.hg19:g.107217029G>T	ENSP00000265720:p.Gly233Val		B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	hg19	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383852	0.82792	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.57752	0.38;0.38	6.01	6.01	0.97437	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	H	0.98048	4.135	0.80722	D	1	D;D	0.54397	0.966;0.966	D;D	0.66979	0.948;0.948	D	0.87908	0.2695	10	0.87932	D	0	.	15.5789	0.76418	0.0672:0.0:0.9328:0.0	.	233;233	A4D0R5;O95620	.;DUS4L_HUMAN	V	233;112	ENSP00000265720:G233V;ENSP00000385274:G112V	ENSP00000265720:G233V	G	+	2	0	DUS4L	107004265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.156000	0.64905	2.861000	0.98227	0.650000	0.86243	GGG		0.343	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581		T	107217029	G	T	107217029	3	4	39	1	0	0	0	0	1	0	0	0	4810	1232	43	4	716	4	DUS4L	7	107217029	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	7530050	107217029	51921634	41	2821											
C8orf86	389649	hgsc.bcm.edu	37	8	38369906	38369906	+	Silent	SNP	T	T	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr8:38369906T>C	ENST00000358138.1	-	3	695	c.671A>G	c.(670-672)tAa>tGa	p.*224*	C8orf86_ENST00000437935.2_3'UTR	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	0										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						cagtggttcttaaacttcagc	0.547																																																0													34	35	35					8																	38369906		2203	4300	6503	SO:0001819	synonymous_variant	389649			BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.671A>G	chr8.hg19:g.38369906T>C			A4QPB7	Silent	SNP	ENST00000358138.1	hg19	CCDS6108.1																																																																																				0.547	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1	NM_207412		C	38369906	T	C	38369906	2	2	39	1	0	0	0	0	0	0	0	1	2444	1761	61	3		3	C8orf86	8	38369906	Silent	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10		38369906	107994116	42	2822											
CYHR1	50626	hgsc.bcm.edu	37	8	145689559	145689559	+	Intron	SNP	C	C	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr8:145689559C>T	ENST00000438911.2	-	2	380				KIFC2_ENST00000301332.2_5'Flank|CYHR1_ENST00000403000.2_Missense_Mutation_p.S177N|CYHR1_ENST00000424149.2_Missense_Mutation_p.S177N|CYHR1_ENST00000530374.1_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000306145.5_Missense_Mutation_p.S177N	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1							cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTAAGCCCAGCTGCCTACAGC	0.642											OREG0019056	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													51	56	55					8																	145689559		2203	4300	6503	SO:0001627	intron_variant	50626			AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"cysteine and histidine rich 1"			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.246+283G>A	chr8.hg19:g.145689559C>T		1696	B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Missense_Mutation	SNP	ENST00000438911.2	hg19	CCDS47943.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158532	0.78114	.	.	ENSG00000187954	ENST00000403000;ENST00000424149;ENST00000306145	T;T;T	0.55052	0.54;0.54;0.54	4.79	3.91	0.45181	.	0.155120	0.40469	N	0.001087	T	0.37892	0.1020	.	.	.	0.20196	N	0.999922	B	0.09022	0.002	B	0.12837	0.008	T	0.22243	-1.0222	9	0.35671	T	0.21	.	8.9929	0.36035	0.0:0.8958:0.0:0.1042	.	177	Q6ZMK1-3	.	N	177	ENSP00000385962:S177N;ENSP00000414647:S177N;ENSP00000304826:S177N	ENSP00000304826:S177N	S	-	2	0	CYHR1	145660367	0.978000	0.34361	0.981000	0.43875	0.946000	0.59487	0.811000	0.27198	1.014000	0.39417	0.462000	0.41574	AGC		0.642	CYHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382438.1	NM_032687		T	145689559	C	T	145689559	1	4	39	0	1	0	0	0	0	0	0	0	4142	797	28	2		2	CYHR1	8	145689559	Intron	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	107319653	145689559	674463	43	2823											
TSC1	7248	hgsc.bcm.edu	37	9	135781381	135781381	+	Silent	SNP	G	G	A	rs149439187		TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr9:135781381G>A	ENST00000298552.3	-	15	1805	c.1584C>T	c.(1582-1584)ggC>ggT	p.G528G	TSC1_ENST00000440111.2_Silent_p.G528G|TSC1_ENST00000545250.1_Silent_p.G477G	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	528					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.A529S(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TCACGCTGGCGCCCTGAGAAC	0.592			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	2	Substitution - Missense(1)|Unknown(1)	lung(1)|bone(1)						G	,,	0,4406		0,0,2203	62	61	61		1584,1581,1431	-3.3	0	9	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TSC1	NM_000368.4,NM_001162426.1,NM_001162427.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	528/1165,527/1164,477/1114	135781381	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1584C>T	chr9.hg19:g.135781381G>A			B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	hg19	CCDS6956.1																																																																																				0.592	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			A	135781381	G	A	135781381	2	1	39	1	0	0	0	0	0	0	0	1	16610	1074	38	1		1	TSC1	9	135781381	Silent	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10		135781381	5432050	44	2824											
SVIL	6840	hgsc.bcm.edu	37	10	29821690	29821690	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr10:29821690delC	ENST00000355867.4	-	8	2358	c.1606delG	c.(1606-1608)gaafs	p.E536fs	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Frame_Shift_Del_p.E536fs	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	536					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCGAGGCTTCCCTGTTGTGA	0.567																																																0													213	205	208					10																	29821690		2203	4300	6503	SO:0001589	frameshift_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1606delG	chr10.hg19:g.29821690delC	ENSP00000348128:p.Glu536fs		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Del	DEL	ENST00000355867.4	hg19	CCDS7164.1																																																																																				0.567	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			-	29821690	C	-	29821690	7	5	39	1	0	1	0	1	0	0	0	0	15426	864	30	0	5162	0	SVIL	10	29821690	Frame_Shift_Del	DEL	C	TCGA-5P-A9KE-01A-11D-A42J-10		29821690	105713057	45	2825											
STOX1	219736	hgsc.bcm.edu	37	10	70644560	70644560	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr10:70644560G>T	ENST00000298596.6	+	3	1091	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	STOX1_ENST00000399169.4_Missense_Mutation_p.Q336H|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.Q226H	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	336						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TCTCTGCTCAGTTCCCACCTG	0.423																																																0													103	101	102					10																	70644560		1904	4122	6026	SO:0001583	missense	219736			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1008G>T	chr10.hg19:g.70644560G>T	ENSP00000298596:p.Gln336His		A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	hg19	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971544	0.74246	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	D;D;D	0.92911	-3.13;-3.13;-2.64	6.08	6.08	0.98989	.	0.000000	0.64402	U	0.000001	D	0.96034	0.8708	M	0.82323	2.585	0.51012	D	0.999903	D	0.89917	1.0	D	0.87578	0.998	D	0.95942	0.8947	10	0.87932	D	0	.	13.8168	0.63297	0.0695:0.0:0.9305:0.0	.	336	Q6ZVD7	STOX1_HUMAN	H	336;336;226	ENSP00000382121:Q336H;ENSP00000298596:Q336H;ENSP00000394509:Q226H	ENSP00000298596:Q336H	Q	+	3	2	STOX1	70314566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.634000	0.67833	2.894000	0.99253	0.591000	0.81541	CAG		0.423	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		T	70644560	G	T	70644560	3	4	39	1	0	0	0	0	1	0	0	0	15324	1020	36	4	1018	4	STOX1	10	70644560	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	40822870	70644560	64890187	46	2826											
BMPR1A	657	hgsc.bcm.edu	37	10	88678972	88678972	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr10:88678972G>C	ENST00000372037.3	+	10	1449	c.912G>C	c.(910-912)caG>caC	p.Q304H		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						CCTGGACTCAGCTCTATTTGA	0.418			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	yes	Rec		Juvenile polyposis	10	10q22.3	657	"bone morphogenetic protein receptor, type IA"		E	0													106	106	106					10																	88678972		2203	4300	6503	SO:0001583	missense	657	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.912G>C	chr10.hg19:g.88678972G>C	ENSP00000361107:p.Gln304His		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	hg19	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419851	0.62622	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	T	0.64438	-0.1	4.95	0.902	0.19290	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.39326	1.205	0.58432	D	0.999999	P	0.36110	0.537	B	0.34824	0.19	T	0.29822	-0.9999	10	0.72032	D	0.01	.	5.0205	0.14358	0.357:0.0:0.5133:0.1296	.	304	P36894	BMR1A_HUMAN	H	304	ENSP00000361107:Q304H	ENSP00000224764:Q304H	Q	+	3	2	BMPR1A	88668952	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.412000	0.34714	-0.028000	0.13850	0.467000	0.42956	CAG		0.418	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		C	88678972	G	C	88678972	3	2	39	1	0	0	0	0	1	0	0	0	1469	962	34	4	942	4	BMPR1A	10	88678972	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	18034412	88678972	46855775	47	2827											
MICAL2	9645	hgsc.bcm.edu	37	11	12263967	12263967	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr11:12263967A>T	ENST00000256194.4	+	19	2832	c.2544A>T	c.(2542-2544)gaA>gaT	p.E848D	MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.E848D|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	848					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAGTGGAGGAAAAGATTCTCC	0.597																																																0													35	29	31					11																	12263967		2201	4294	6495	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2544A>T	chr11.hg19:g.12263967A>T	ENSP00000256194:p.Glu848Asp		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	hg19	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.525074	0.44969	.	.	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.63580	-0.04;-0.05	5.79	-2.48	0.06423	.	0.173691	0.33753	N	0.004600	T	0.35913	0.0948	N	0.17082	0.46	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.11329	0.006;0.001	T	0.05354	-1.0890	10	0.16420	T	0.52	.	8.1203	0.30967	0.5788:0.1194:0.3018:0.0	.	848;848	G3XAC8;O94851	.;MICA2_HUMAN	D	848	ENSP00000256194:E848D;ENSP00000344894:E848D	ENSP00000256194:E848D	E	+	3	2	MICAL2	12220543	0.976000	0.34144	0.964000	0.40570	0.988000	0.76386	0.136000	0.15974	-0.336000	0.08438	0.460000	0.39030	GAA		0.597	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		T	12263967	A	T	12263967	3	4	39	1	0	0	0	0	1	0	0	0	9572	11	1	5	2610	5	MICAL2	11	12263967	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10		12263967	122742549	48	2828											
PIK3C2A	5286	hgsc.bcm.edu	37	11	17124355	17124355	+	Silent	SNP	G	G	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr11:17124355G>T	ENST00000265970.7	-	23	3704	c.3705C>A	c.(3703-3705)tcC>tcA	p.S1235S	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.S855S	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1235	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ATCCAGCACAGGAATAGATAA	0.333																																																0													67	60	63					11																	17124355		2200	4293	6493	SO:0001819	synonymous_variant	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3705C>A	chr11.hg19:g.17124355G>T			B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	hg19	CCDS7824.1																																																																																				0.333	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		T	17124355	G	T	17124355	2	4	39	1	0	0	0	0	0	0	0	1	11911	987	35	4		4	PIK3C2A	11	17124355	Silent	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	4860388	17124355	117882161	49	2829											
PHLDB1	23187	hgsc.bcm.edu	37	11	118498570	118498570	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr11:118498570G>C	ENST00000361417.2	+	7	1442	c.1031G>C	c.(1030-1032)cGg>cCg	p.R344P	PHLDB1_ENST00000356063.5_Missense_Mutation_p.R344P	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	344										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCGGAGGCCCGGAGAGCCACT	0.667																																																0													20	23	22					11																	118498570		2199	4288	6487	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1031G>C	chr11.hg19:g.118498570G>C	ENSP00000354498:p.Arg344Pro		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	hg19	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631475	0.46944	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000543207;ENST00000356063	T;T	0.32515	1.46;1.45	5.13	4.22	0.49857	.	0.644418	0.16313	N	0.219911	T	0.40645	0.1125	L	0.36672	1.1	0.80722	D	1	B;B;P;D	0.67145	0.254;0.009;0.943;0.996	B;B;P;D	0.72982	0.113;0.011;0.681;0.979	T	0.16247	-1.0409	10	0.48119	T	0.1	-8.6545	7.1746	0.25736	0.0904:0.1718:0.7379:0.0	.	343;344;344;344	B4DIX4;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	P	344;103;343;344	ENSP00000354498:R344P;ENSP00000348359:R344P	ENSP00000348359:R344P	R	+	2	0	PHLDB1	118003780	0.698000	0.27777	1.000000	0.80357	0.994000	0.84299	1.948000	0.40303	1.392000	0.46585	0.563000	0.77884	CGG		0.667	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		C	118498570	G	C	118498570	3	2	39	1	0	0	0	0	1	0	0	0	11853	1116	39	4	1049	4	PHLDB1	11	118498570	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	101374215	118498570	16507946	50	2830											
AEBP2	121536	hgsc.bcm.edu	37	12	19615597	19615597	+	Silent	SNP	C	C	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr12:19615597C>T	ENST00000398864.3	+	2	851	c.825C>T	c.(823-825)agC>agT	p.S275S	AEBP2_ENST00000360995.4_Silent_p.S59S|AEBP2_ENST00000266508.9_Silent_p.S275S|AEBP2_ENST00000541908.1_Silent_p.S46S	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	275	Interaction with RBBP4.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TCAACTCTAGCCCAGATCTGG	0.443																																																0													135	129	130					12																	19615597		1945	4140	6085	SO:0001819	synonymous_variant	121536				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.825C>T	chr12.hg19:g.19615597C>T			Q59FS5|Q6ZN62|Q96BG3	Silent	SNP	ENST00000398864.3	hg19	CCDS44841.1																																																																																				0.443	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		T	19615597	C	T	19615597	2	4	39	1	0	0	0	0	0	0	0	1	350	738	26	2		2	AEBP2	12	19615597	Silent	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10		19615597	114236298	51	2831											
KRT73	319101	hgsc.bcm.edu	37	12	53011930	53011930	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr12:53011930T>G	ENST00000305748.3	-	1	413	c.379A>C	c.(379-381)Aaa>Caa	p.K127Q	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	127	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACGCACTTTCTGGATTTCA	0.577																																																0													132	132	132					12																	53011930		2203	4300	6503	SO:0001583	missense	319101			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.379A>C	chr12.hg19:g.53011930T>G	ENSP00000307014:p.Lys127Gln		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	hg19	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344058	0.41498	.	.	ENSG00000186049	ENST00000305748	T	0.75367	-0.93	4.4	3.21	0.36854	.	0.000000	0.52532	D	0.000073	T	0.74809	0.3765	L	0.45744	1.44	0.25981	N	0.982374	D	0.62365	0.991	P	0.58721	0.844	T	0.63906	-0.6531	10	0.33940	T	0.23	.	7.536	0.27710	0.1468:0.0:0.1346:0.7185	.	127	Q86Y46	K2C73_HUMAN	Q	127	ENSP00000307014:K127Q	ENSP00000307014:K127Q	K	-	1	0	KRT73	51298197	0.000000	0.05858	0.998000	0.56505	0.817000	0.46193	-0.029000	0.12329	0.763000	0.33175	0.533000	0.62120	AAA		0.577	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		G	53011930	T	G	53011930	3	3	39	1	0	0	0	0	1	0	0	0	8488	1792	62	5	1279	5	KRT73	12	53011930	Missense_Mutation	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	33396333	53011930	80839965	52	2832											
MON2	23041	hgsc.bcm.edu	37	12	62892784	62892784	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr12:62892784C>G	ENST00000393632.2	+	5	912	c.521C>G	c.(520-522)aCt>aGt	p.T174S	MON2_ENST00000552115.1_Missense_Mutation_p.T174S|MON2_ENST00000393630.3_Missense_Mutation_p.T174S|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.T174S|MON2_ENST00000393629.2_Missense_Mutation_p.T174S|MON2_ENST00000280379.6_Missense_Mutation_p.T174S|MON2_ENST00000546600.1_Missense_Mutation_p.T174S	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	174					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CAAGTTGTTACTGTTGTTTTT	0.368																																																0													241	230	234					12																	62892784		2203	4300	6503	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.521C>G	chr12.hg19:g.62892784C>G	ENSP00000377252:p.Thr174Ser		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	hg19	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249102	0.22880	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.65178	0.7;-0.14;-0.14;0.71;0.71;-0.14;0.71	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	N	0.03050	-0.425	0.80722	D	1	B;B;B;B;B	0.22346	0.068;0.037;0.041;0.066;0.039	B;B;B;B;B	0.22386	0.018;0.032;0.032;0.039;0.018	T	0.33574	-0.9863	9	.	.	.	-16.895	19.173	0.93588	0.0:1.0:0.0:0.0	.	174;174;174;174;174	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4;Q7Z3U7	.;.;.;.;MON2_HUMAN	S	174;174;174;174;102;174;174;174	ENSP00000377252:T174S;ENSP00000377250:T174S;ENSP00000280379:T174S;ENSP00000447407:T174S;ENSP00000449215:T174S;ENSP00000377249:T174S;ENSP00000446635:T174S	.	T	+	2	0	MON2	61179051	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.818000	0.86416	2.553000	0.86117	0.491000	0.48974	ACT		0.368	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		G	62892784	C	G	62892784	3	3	39	1	0	0	0	0	1	0	0	0	9702	565	20	4	539	4	MON2	12	62892784	Missense_Mutation	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	9880854	62892784	70959111	53	2833											
RNFT2	84900	hgsc.bcm.edu	37	12	117178872	117178872	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr12:117178872G>C	ENST00000257575.4	+	3	289	c.56G>C	c.(55-57)aGc>aCc	p.S19T	RNFT2_ENST00000392549.2_Missense_Mutation_p.S19T|C12orf49_ENST00000536380.1_5'Flank|RNFT2_ENST00000319176.7_Missense_Mutation_p.S19T|RNFT2_ENST00000407967.3_Missense_Mutation_p.S19T			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	19						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CGCCACAGCAGCAACACGGAT	0.527																																																0													100	107	105					12																	117178872		2197	4296	6493	SO:0001583	missense	84900			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.56G>C	chr12.hg19:g.117178872G>C	ENSP00000257575:p.Ser19Thr		E9PAM7|Q96SU5	Missense_Mutation	SNP	ENST00000257575.4	hg19	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800522	0.50315	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549;ENST00000319176	T;T	0.58506	0.33;0.33	4.49	4.49	0.54785	.	.	.	.	.	T	0.69815	0.3153	L	0.43152	1.355	0.54753	D	0.999981	P;D	0.67145	0.956;0.996	D;D	0.76071	0.931;0.987	T	0.73849	-0.3853	9	0.87932	D	0	-3.2449	17.4248	0.87524	0.0:0.0:1.0:0.0	.	19;19	Q96EX2;E9PAM7	RNFT2_HUMAN;.	T	19	ENSP00000257575:S19T;ENSP00000376332:S19T	ENSP00000257575:S19T	S	+	2	0	RNFT2	115663255	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.055000	0.93873	2.347000	0.79759	0.555000	0.69702	AGC		0.527	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		C	117178872	G	C	117178872	3	2	39	1	0	0	0	0	1	0	0	0	13508	971	34	4	62	4	RNFT2	12	117178872	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	54286088	117178872	16673023	54	2834											
HIP1R	9026	hgsc.bcm.edu	37	12	123340130	123340131	+	Frame_Shift_Ins	INS	-	-	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr12:123340130_123340131insC	ENST00000253083.4	+	12	1151_1152	c.1026_1027insC	c.(1027-1029)cccfs	p.P343fs		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	343					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AGACGTTTGGACCCCCCAATGG	0.634																																																0																																										SO:0001589	frameshift_variant	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1032dupC	chr12.hg19:g.123340136_123340136dupC	ENSP00000253083:p.Pro343fs		A6NHQ6|Q6NXG8|Q9UED9	Frame_Shift_Ins	INS	ENST00000253083.4	hg19	CCDS31922.1																																																																																				0.634	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		C	123340131	-	C	123340130	7	5	39	1	0	1	1	0	0	0	0	0	7117	262	10	0	1072	0	HIP1R	12	123340130	Frame_Shift_Ins	INS	-	TCGA-5P-A9KE-01A-11D-A42J-10	6161258	123340130	10511765	55	2835											
SACS	26278	hgsc.bcm.edu	37	13	23929405	23929405	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr13:23929405G>C	ENST00000382292.3	-	7	1619	c.1346C>G	c.(1345-1347)cCt>cGt	p.P449R	SACS_ENST00000382298.3_Missense_Mutation_p.P449R|SACS_ENST00000476776.1_5'Flank|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	449					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTGGTAAAGGAAGGAAACA	0.458																																																0													81	72	75					13																	23929405		2203	4300	6503	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1346C>G	chr13.hg19:g.23929405G>C	ENSP00000371729:p.Pro449Arg		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681299	0.68042	.	.	ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156	T;T;T	0.18338	2.22;2.22;2.22	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.99	T	0.58103	-0.7695	10	0.87932	D	0	.	20.2406	0.98372	0.0:0.0:1.0:0.0	.	348;236;449	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	R	449;449;73	ENSP00000371729:P449R;ENSP00000371735:P449R;ENSP00000390925:P73R	ENSP00000371729:P449R	P	-	2	0	SACS	22827405	1.000000	0.71417	0.847000	0.33407	0.377000	0.30045	9.798000	0.99111	2.857000	0.98124	0.650000	0.86243	CCT		0.458	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23929405	G	C	23929405	3	2	39	1	0	0	0	0	1	0	0	0	13810	1000	35	4	12405	4	SACS	13	23929405	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10		23929405	91240473	56	2836											
RNF17	56163	hgsc.bcm.edu	37	13	25373622	25373622	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr13:25373622A>G	ENST00000255324.5	+	12	1541	c.1489A>G	c.(1489-1491)Aga>Gga	p.R497G	RNF17_ENST00000381921.1_Missense_Mutation_p.R497G|RNF17_ENST00000255325.6_Missense_Mutation_p.R497G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	497					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAGAAATACCAGAAAACCTTG	0.348																																																0													106	112	110					13																	25373622		2203	4298	6501	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1489A>G	chr13.hg19:g.25373622A>G	ENSP00000255324:p.Arg497Gly		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	hg19	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	9.146	1.015011	0.19355	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	T;T;T	0.17370	3.51;3.51;2.28	5.41	2.99	0.34606	Maternal tudor protein (1);	0.222829	0.33916	N	0.004431	T	0.07188	0.0182	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.14578	0.005;0.011	T	0.24621	-1.0155	10	0.26408	T	0.33	.	5.2251	0.15389	0.6627:0.0:0.3373:0.0	.	497;497	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	G	497;497;356;498	ENSP00000255324:R497G;ENSP00000371346:R497G;ENSP00000255325:R498G	ENSP00000255324:R497G	R	+	1	2	RNF17	24271622	0.908000	0.30866	0.777000	0.31699	0.600000	0.36913	1.532000	0.36029	1.059000	0.40554	0.455000	0.32223	AGA		0.348	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		G	25373622	A	G	25373622	3	3	39	1	0	0	0	0	1	0	0	0	13467	180	7	3	1535	3	RNF17	13	25373622	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	1444217	25373622	89796256	57	2837											
GPR12	2835	hgsc.bcm.edu	37	13	27333950	27333950	+	Silent	SNP	C	C	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr13:27333950C>T	ENST00000381436.2	-	1	477	c.15G>A	c.(13-15)ctG>ctA	p.L5L	GPR12_ENST00000405846.3_Silent_p.L5L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	5					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		AATTGACCTTCAGGTCTTCAT	0.478																																																0													32	37	35					13																	27333950		2199	4300	6499	SO:0001819	synonymous_variant	2835			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.15G>A	chr13.hg19:g.27333950C>T			Q5T8P3	Silent	SNP	ENST00000381436.2	hg19	CCDS9319.1																																																																																				0.478	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			T	27333950	C	T	27333950	2	4	39	1	0	0	0	0	0	0	0	1	6637	813	29	2		2	GPR12	13	27333950	Silent	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	1960328	27333950	87835928	58	2838											
MYH7	4625	hgsc.bcm.edu	37	14	23893155	23893155	+	Silent	SNP	C	C	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr14:23893155C>A	ENST00000355349.3	-	23	3045	c.2883G>T	c.(2881-2883)ctG>ctT	p.L961L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	961					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCACTTTGGCCAGTGTCAGCT	0.532																																																0													186	169	175					14																	23893155		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2883G>T	chr14.hg19:g.23893155C>A			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	hg19	CCDS9601.1																																																																																				0.532	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		A	23893155	C	A	23893155	2	1	39	1	0	0	0	0	0	0	0	1	10041	581	21	4		4	MYH7	14	23893155	Silent	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10		23893155	83456385	59	2839											
ALDH6A1	4329	hgsc.bcm.edu	37	14	74531541	74531541	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr14:74531541T>A	ENST00000553458.1	-	11	1585	c.1487A>T	c.(1486-1488)aAt>aTt	p.N496I	AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.N213I|CCDC176_ENST00000394009.3_3'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.N483I|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	496					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		GCCATAGAAATTGGTGTCTCC	0.413																																																0													49	49	49					14																	74531541		2203	4300	6503	SO:0001583	missense	4329			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"Aldehyde dehydrogenases"	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.1487A>T	chr14.hg19:g.74531541T>A	ENSP00000450436:p.Asn496Ile		B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	hg19	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818862	0.90873	.	.	ENSG00000119711	ENST00000553458;ENST00000350259;ENST00000555126	T;T;T	0.76186	-1.0;-1.0;-1.0	6.17	6.17	0.99709	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.87208	0.6120	M	0.87038	2.855	0.80722	D	1	P;D	0.52996	0.924;0.957	P;P	0.61397	0.888;0.888	D	0.89098	0.3487	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	483;496	B4DFS8;Q02252	.;MMSA_HUMAN	I	496;483;213	ENSP00000450436:N496I;ENSP00000342564:N483I;ENSP00000452081:N213I	ENSP00000342564:N496I	N	-	2	0	ALDH6A1	73601294	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	AAT		0.413	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			A	74531541	T	A	74531541	3	1	39	1	0	0	0	0	1	0	0	0	503	1493	52	5	128	5	ALDH6A1	14	74531541	Missense_Mutation	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	50638386	74531541	32817999	60	2840											
RYR3	6263	hgsc.bcm.edu	37	15	33941289	33941290	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr15:33941289_33941290TC>AT	ENST00000389232.4	+	31	4065_4066	c.3995_3996TC>AT	c.(3994-3996)aTC>aAT	p.I1332N	RYR3_ENST00000415757.3_Missense_Mutation_p.I1332N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1332	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		TACTACGCCATCCGCATCTTTG	0.53																																																0																																										SO:0001583	missense	6263				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		Exception_encountered	chr15.hg19:g.33941289_33941290delinsAT	ENSP00000373884:p.Ile1332Asn		O15175|Q15412	Missense_Mutation|Silent	SNP	ENST00000389232.4	hg19	CCDS45210.1																																																																																				0.53	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			AT	33941290	TC	AT	33941289	3	1	39	1	0	0	0	0	1	0	0	0	13776	1435	50	5	4117	5	RYR3	15	33941289	Missense_Mutation	DNP	TC	TCGA-5P-A9KE-01A-11D-A42J-10		33941289	68590103	61	2841											
EIF2AK4	440275	hgsc.bcm.edu	37	15	40268924	40268924	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr15:40268924G>A	ENST00000263791.5	+	12	2171	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E710K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	710	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CAGCTCGGTGGAGTGGAGCAC	0.721																																																0													22	25	24					15																	40268924		1774	3885	5659	SO:0001583	missense	440275			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2128G>A	chr15.hg19:g.40268924G>A	ENSP00000263791:p.Glu710Lys		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	hg19	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	37	6.303692	0.97458	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.71103	-0.54;-0.5	5.34	5.34	0.76211	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79203	0.4406	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75266	-0.3378	10	0.29301	T	0.29	-25.8872	19.4115	0.94675	0.0:0.0:1.0:0.0	.	710	Q9P2K8	E2AK4_HUMAN	K	710	ENSP00000263791:E710K;ENSP00000372174:E710K	ENSP00000263791:E710K	E	+	1	0	EIF2AK4	38056216	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.700000	0.98707	2.651000	0.90000	0.585000	0.79938	GAG		0.721	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			A	40268924	G	A	40268924	3	1	39	1	0	0	0	0	1	0	0	0	5001	1175	41	2	2174	2	EIF2AK4	15	40268924	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	6327635	40268924	62262468	62	2842											
LRRC57	255252	hgsc.bcm.edu	37	15	42839565	42839565	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr15:42839565C>A	ENST00000323443.2	-	3	753	c.386G>T	c.(385-387)aGc>aTc	p.S129I	HAUS2_ENST00000568876.1_5'Flank|HAUS2_ENST00000568846.2_5'Flank|LRRC57_ENST00000397130.3_Missense_Mutation_p.S129I|HAUS2_ENST00000260372.3_5'Flank|LRRC57_ENST00000563454.1_Missense_Mutation_p.S129I			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	129						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		GTGCCGTAGGCTACAAAGTTG	0.527																																																0													96	83	87					15																	42839565		2203	4299	6502	SO:0001583	missense	255252			AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.386G>T	chr15.hg19:g.42839565C>A	ENSP00000326817:p.Ser129Ile		Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	hg19	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707022	0.30232	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.58940	0.3;0.3	5.41	0.293	0.15742	.	0.471361	0.27749	N	0.018005	T	0.49966	0.1588	M	0.70275	2.135	0.28209	N	0.927029	B	0.27192	0.171	B	0.28465	0.09	T	0.44847	-0.9301	10	0.42905	T	0.14	.	5.8582	0.18732	0.0:0.5396:0.1234:0.337	.	129	Q8N9N7	LRC57_HUMAN	I	129	ENSP00000326817:S129I;ENSP00000380319:S129I	ENSP00000326817:S129I	S	-	2	0	LRRC57	40626857	1.000000	0.71417	0.970000	0.41538	0.620000	0.37586	0.915000	0.28638	0.092000	0.17331	-0.818000	0.03119	AGC		0.527	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		A	42839565	C	A	42839565	3	1	39	1	0	0	0	0	1	0	0	0	9015	797	28	4	345	4	LRRC57	15	42839565	Missense_Mutation	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	2570641	42839565	59691827	63	2843											
DMXL2	23312	hgsc.bcm.edu	37	15	51758502	51758502	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr15:51758502G>A	ENST00000251076.5	-	30	7683	c.7396C>T	c.(7396-7398)Ctt>Ttt	p.L2466F	DMXL2_ENST00000543779.2_Missense_Mutation_p.L2467F|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.L1830F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2466						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GACAAAGGAAGAAATGGCTGC	0.239																																																0													62	61	62					15																	51758502		2195	4290	6485	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7396C>T	chr15.hg19:g.51758502G>A	ENSP00000251076:p.Leu2466Phe		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	hg19	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522339	0.85600	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.27557	1.8;1.79;1.66	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.69358	2.11	0.80722	D	1	D;D;D;P	0.76494	0.998;0.998;0.999;0.597	D;D;D;B	0.80764	0.943;0.986;0.994;0.293	T	0.55366	-0.8152	10	0.54805	T	0.06	.	18.8489	0.92218	0.0:0.0:1.0:0.0	.	2467;1830;2466;2467	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	F	2466;2467;1830;11	ENSP00000251076:L2466F;ENSP00000441858:L2467F;ENSP00000400855:L1830F	ENSP00000251076:L2466F	L	-	1	0	DMXL2	49545794	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.154000	0.77437	2.697000	0.92050	0.556000	0.70494	CTT		0.239	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		A	51758502	G	A	51758502	3	1	39	1	0	0	0	0	1	0	0	0	4597	942	33	2	1770	2	DMXL2	15	51758502	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	8918937	51758502	50772890	64	2844											
ZSCAN10	84891	hgsc.bcm.edu	37	16	3141821	3141821	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr16:3141821C>T	ENST00000252463.2	-	3	595	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G88S|ZSCAN10_ENST00000572548.1_Silent_p.R35R	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	170	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGTGAGGGGCCCTGGGGACCT	0.647																																																0													14	13	14					16																	3141821		2189	4291	6480	SO:0001583	missense	84891			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.508G>A	chr16.hg19:g.3141821C>T	ENSP00000252463:p.Gly170Ser		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	hg19	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727505	0.69074	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.06068	3.35	4.64	4.64	0.57946	.	0.377632	0.19741	N	0.107124	T	0.05044	0.0135	N	0.08118	0	0.80722	D	1	D;D	0.54047	0.964;0.964	P;P	0.47673	0.554;0.554	T	0.58306	-0.7659	10	0.18710	T	0.47	-25.2064	13.0179	0.58768	0.0:1.0:0.0:0.0	.	103;170	Q1WWM2;Q96SZ4	.;ZSC10_HUMAN	S	103;170	ENSP00000252463:G170S	ENSP00000252463:G170S	G	-	1	0	ZSCAN10	3081822	0.088000	0.21588	0.987000	0.45799	0.590000	0.36582	0.394000	0.20834	2.150000	0.67090	0.561000	0.74099	GGC		0.647	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		T	3141821	C	T	3141821	3	4	39	1	0	0	0	0	1	0	0	0	18232	623	22	2	1681	2	ZSCAN10	16	3141821	Missense_Mutation	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10		3141821	87212932	65	2845											
VWA3A	146177	hgsc.bcm.edu	37	16	22130234	22130234	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr16:22130234delC	ENST00000389398.5	+	12	1098	c.1002delC	c.(1000-1002)agcfs	p.S334fs	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	334						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACTACACCAGCCGGGACATGG	0.607																																																0													53	57	56					16																	22130234		2107	4232	6339	SO:0001589	frameshift_variant	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1002delC	chr16.hg19:g.22130234delC	ENSP00000374049:p.Ser334fs		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Frame_Shift_Del	DEL	ENST00000389398.5	hg19	CCDS45441.1																																																																																				0.607	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			-	22130234	C	-	22130234	7	5	39	1	0	1	0	1	0	0	0	0	17245	738	26	0	1048	0	VWA3A	16	22130234	Frame_Shift_Del	DEL	C	TCGA-5P-A9KE-01A-11D-A42J-10	18988413	22130234	68224519	66	2846											
HSF4	3299	hgsc.bcm.edu	37	16	67199508	67199508	+	Silent	SNP	G	G	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr16:67199508G>T	ENST00000521374.1	+	2	207	c.207G>T	c.(205-207)gcG>gcT	p.A69A	HSF4_ENST00000264009.8_Silent_p.A69A|RP11-5A19.5_ENST00000518227.1_3'UTR|HSF4_ENST00000584272.1_Silent_p.A69A|HSF4_ENST00000421453.1_Silent_p.A69A			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	69					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCAACATGGCGAGCTTCGTGC	0.647																																																0													52	58	56					16																	67199508		2154	4289	6443	SO:0001819	synonymous_variant	3299			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.207G>T	chr16.hg19:g.67199508G>T			Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	hg19	CCDS42175.1																																																																																				0.647	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		T	67199508	G	T	67199508	2	4	39	1	0	0	0	0	0	0	0	1	7400	1045	37	4		4	HSF4	16	67199508	Silent	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	45069274	67199508	23155245	67	2847											
MINK1	50488	hgsc.bcm.edu	37	17	4788851	4788851	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr17:4788851G>A	ENST00000355280.6	+	7	778	c.582G>A	c.(580-582)tgG>tgA	p.W194*	MINK1_ENST00000347992.7_Nonsense_Mutation_p.W194*|RN7SL784P_ENST00000577319.1_RNA|MINK1_ENST00000453408.3_Nonsense_Mutation_p.W194*	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CTCCCTACTGGATGGCTCCAG	0.577																																																0													97	102	100					17																	4788851		2062	4183	6245	SO:0001587	stop_gained	50488			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.582G>A	chr17.hg19:g.4788851G>A	ENSP00000347427:p.Trp194*			Nonsense_Mutation	SNP	ENST00000355280.6	hg19	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	G	38	6.985257	0.97983	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0271	0.86450	0.0:0.0:1.0:0.0	.	.	.	.	X	194	.	ENSP00000269296:W194X	W	+	3	0	MINK1	4729634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.884000	0.98904	0.655000	0.94253	TGG		0.577	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		A	4788851	G	A	4788851	4	1	39	1	0	0	0	0	0	1	0	0	9589	1183	41	2	347	2	MINK1	17	4788851	Nonsense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10		4788851	76406359	68	2848											
SLC2A4	6517	hgsc.bcm.edu	37	17	7187813	7187813	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr17:7187813G>A	ENST00000317370.8	+	7	1005	c.737G>A	c.(736-738)cGc>cAc	p.R246H	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Missense_Mutation_p.R246H|SLC2A4_ENST00000424875.2_Missense_Mutation_p.R236H	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	246					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)	p.R246H(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTCTGAAGCGCCTGACAGGC	0.637																																																1	Substitution - Missense(1)	large_intestine(1)											42	44	43					17																	7187813		2203	4300	6503	SO:0001583	missense	6517			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"Solute carriers"	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.737G>A	chr17.hg19:g.7187813G>A	ENSP00000320935:p.Arg246His		Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	hg19	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789231	0.49997	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.76448	-1.02;-1.02	4.88	3.84	0.44239	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.124816	0.51477	D	0.000087	T	0.75744	0.3891	M	0.90650	3.135	0.48040	D	0.999573	P;P	0.51933	0.484;0.949	B;B	0.37989	0.15;0.262	T	0.79642	-0.1718	10	0.59425	D	0.04	.	5.782	0.18312	0.2087:0.0:0.7913:0.0	.	246;236	P14672;F5H081	GTR4_HUMAN;.	H	246;236	ENSP00000320935:R246H;ENSP00000396887:R236H	ENSP00000320935:R246H	R	+	2	0	SLC2A4	7128537	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.296000	0.51802	2.535000	0.85469	0.655000	0.94253	CGC		0.637	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			A	7187813	G	A	7187813	3	1	39	1	0	0	0	0	1	0	0	0	14552	1087	38	1	763	1	SLC2A4	17	7187813	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	2398962	7187813	74007397	69	2849											
SHMT1	6470	hgsc.bcm.edu	37	17	18232685	18232685	+	Missense_Mutation	SNP	G	G	A	rs140862126		TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr17:18232685G>A	ENST00000316694.3	-	11	1323	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	SHMT1_ENST00000539052.1_Missense_Mutation_p.R259W|SHMT1_ENST00000352886.6_Missense_Mutation_p.R317W|SHMT1_ENST00000354098.3_Missense_Mutation_p.R358W	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	397					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CCACTGGGCCGCAGAGCGCTT	0.517																																																0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	37	39	38		1189,1072	3.4	1	17	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SHMT1	NM_004169.3,NM_148918.1	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	397/484,358/445	18232685	1,13005	2203	4300	6503	SO:0001583	missense	6470				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1189C>T	chr17.hg19:g.18232685G>A	ENSP00000318868:p.Arg397Trp		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	hg19	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044222	0.75732	0.0	1.16E-4	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.43294	0.95;1.54;0.95;1.54	5.52	3.36	0.38483	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.051991	0.85682	D	0.000000	T	0.56077	0.1961	L	0.56124	1.755	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.66497	0.944;0.839	T	0.56613	-0.7950	10	0.37606	T	0.19	-17.6168	15.0169	0.71594	0.0:0.0:0.7428:0.2572	.	358;397	P34896-2;P34896	.;GLYC_HUMAN	W	397;172;317;259;358	ENSP00000318868:R397W;ENSP00000345881:R317W;ENSP00000440089:R259W;ENSP00000318805:R358W	ENSP00000318868:R397W	R	-	1	2	SHMT1	18173410	1.000000	0.71417	0.965000	0.40720	0.794000	0.44872	4.977000	0.63792	1.429000	0.47314	0.655000	0.94253	CGG		0.517	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		A	18232685	G	A	18232685	3	1	39	1	0	0	0	0	1	0	0	0	14291	1086	38	1	270	1	SHMT1	17	18232685	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	11044872	18232685	62962525	70	2850											
EFCAB5	374786	hgsc.bcm.edu	37	17	28380417	28380417	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr17:28380417G>A	ENST00000394835.3	+	10	1637	c.1445G>A	c.(1444-1446)aGt>aAt	p.S482N	EFCAB5_ENST00000394832.2_Missense_Mutation_p.S482N|EFCAB5_ENST00000536908.2_Missense_Mutation_p.S426N|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S482N|EFCAB5_ENST00000541045.1_Missense_Mutation_p.S139N|EFCAB5_ENST00000378738.3_Missense_Mutation_p.S482N	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	482							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAAACCCAAAGTAAATTATTA	0.388																																																0													135	135	135					17																	28380417		1894	4113	6007	SO:0001583	missense	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1445G>A	chr17.hg19:g.28380417G>A	ENSP00000378312:p.Ser482Asn		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	hg19	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746070	0.69418	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.92	0.725	0.18242	.	0.461885	0.20171	N	0.097728	T	0.49864	0.1582	L	0.54323	1.7	0.09310	N	1	D;D;P;B;B;P	0.59767	0.976;0.986;0.949;0.004;0.011;0.949	P;P;P;B;B;P	0.58520	0.696;0.84;0.57;0.009;0.015;0.57	T	0.41592	-0.9500	10	0.19590	T	0.45	-1.5963	7.0606	0.25123	0.3652:0.0:0.6348:0.0	.	426;426;482;482;482;482	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	N	426;225;139;482;482;482;482;426;288	ENSP00000440619:S426N;ENSP00000445575:S139N;ENSP00000378312:S482N;ENSP00000322003:S482N;ENSP00000378309:S482N;ENSP00000368012:S482N;ENSP00000417009:S288N	ENSP00000322003:S482N	S	+	2	0	EFCAB5	25404543	0.000000	0.05858	0.000000	0.03702	0.750000	0.42670	-0.383000	0.07398	0.091000	0.17302	0.655000	0.94253	AGT		0.388	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		A	28380417	G	A	28380417	3	1	39	1	0	0	0	0	1	0	0	0	4940	1029	36	2	1483	2	EFCAB5	17	28380417	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	10147732	28380417	52814793	71	2851	36	2									
EFCAB5	374786	hgsc.bcm.edu	37	17	28380419	28380419	+	Nonsense_Mutation	SNP	A	A	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr17:28380419A>T	ENST00000394835.3	+	10	1639	c.1447A>T	c.(1447-1449)Aaa>Taa	p.K483*	EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.K483*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.K427*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.K483*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.K140*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.K483*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	483							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AACCCAAAGTAAATTATTAGA	0.383																																																0													135	135	135					17																	28380419		1892	4115	6007	SO:0001587	stop_gained	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1447A>T	chr17.hg19:g.28380419A>T	ENSP00000378312:p.Lys483*		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	hg19	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667002	0.67814	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	.	.	.	4.92	1.33	0.21861	.	0.764210	0.11787	N	0.529575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-9.109	5.3513	0.16038	0.5721:0.3355:0.0924:0.0	.	.	.	.	X	427;226;140;483;483;483;483;427;289	.	ENSP00000322003:K483X	K	+	1	0	EFCAB5	25404545	0.000000	0.05858	0.000000	0.03702	0.791000	0.44710	0.097000	0.15168	0.083000	0.17047	0.533000	0.62120	AAA		0.383	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		T	28380419	A	T	28380419	4	4	39	1	0	0	0	0	0	1	0	0	4940	363	13	5	1485	5	EFCAB5	17	28380419	Nonsense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	2	28380419	52814791	72	2852	36	2									
MLLT6	4302	hgsc.bcm.edu	37	17	36880963	36880991	+	Frame_Shift_Del	DEL	CCCATGGCCAGCCTGCTGGCAGGAAGCTC	CCCATGGCCAGCCTGCTGGCAGGAAGCTC	-	rs150877733|rs528335314		TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	CCCATGGCCAGCCTGCTGGCAGGAAGCTC	CCCATGGCCAGCCTGCTGGCAGGAAGCTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr17:36880963_36880991delCCCATGGCCAGCCTGCTGGCAGGAAGCTC	ENST00000325718.7	+	19	3065_3093	c.2974_3002delCCCATGGCCAGCCTGCTGGCAGGAAGCTC	c.(2974-3003)cccatggccagcctgctggcaggaagctccfs	p.PMASLLAGSS992fs		NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	992					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CTCCCAGCTGCCCATGGCCAGCCTGCTGGCAGGAAGCTCCACCCCGCTG	0.664			T	MLL	AL																																		Dom	yes		17	17q21	4302	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"		L	0																																										SO:0001589	frameshift_variant	4302				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.2974_3002delCCCATGGCCAGCCTGCTGGCAGGAAGCTC	chr17.hg19:g.36880963_36880991delCCCATGGCCAGCCTGCTGGCAGGAAGCTC	ENSP00000316426:p.Pro992fs		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Frame_Shift_Del	DEL	ENST00000325718.7	hg19	CCDS11327.1																																																																																				0.664	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		-	36880991	CCCATGGCCAGCCTGCTGGCAGGAAGCTC	-	36880963	7	5	39	1	0	1	0	1	0	0	0	0	9632	739	26	0	3048	0	MLLT6	17	36880963	Frame_Shift_Del	DEL	CCCATGGCCAGCCTGCTGGCAGGAAGCTC	TCGA-5P-A9KE-01A-11D-A42J-10	8500544	36880963	44314247	73	2853											
STAT3	6774	hgsc.bcm.edu	37	17	40481785	40481786	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr17:40481785_40481786CC>TA	ENST00000264657.5	-	12	1430_1431	c.1118_1119GG>TA	c.(1117-1119)gGG>gTA	p.G373V	STAT3_ENST00000404395.3_Missense_Mutation_p.G373V|STAT3_ENST00000585517.1_Missense_Mutation_p.G373V|STAT3_ENST00000389272.3_Missense_Mutation_p.G275V|STAT3_ENST00000588969.1_Missense_Mutation_p.G373V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	373					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTGCAACGTCCCCAGAGTCTCT	0.421									Hyperimmunoglobulin E Recurrent Infection Syndrome																																							0																																										SO:0001583	missense	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1118_1119delinsTA	chr17.hg19:g.40481785_40481786delinsTA	ENSP00000264657:p.Gly373Val		A8K7B8|K7ENL3|O14916|Q9BW54	Silent|Missense_Mutation	SNP	ENST00000264657.5	hg19	CCDS32656.1																																																																																				0.421	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		TA	40481786	CC	TA	40481785	3	4	39	1	0	0	0	0	1	0	0	0	15271	610	22	2	1245	2	STAT3	17	40481785	Missense_Mutation	DNP	CC	TCGA-5P-A9KE-01A-11D-A42J-10	3600822	40481785	40713425	74	2854											
EFTUD2	9343	hgsc.bcm.edu	37	17	42949881	42949881	+	Silent	SNP	G	G	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr17:42949881G>A	ENST00000426333.2	-	11	1224	c.927C>T	c.(925-927)ttC>ttT	p.F309F	EFTUD2_ENST00000592576.1_Silent_p.F299F|EFTUD2_ENST00000591382.1_Silent_p.F309F|EFTUD2_ENST00000402521.3_Silent_p.F274F	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	309	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGGAGCTGGAGAAGCAGACGT	0.547																																					Ovarian(10;65 485 10258 29980 30707)											0													187	166	174					17																	42949881		2203	4300	6503	SO:0001819	synonymous_variant	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.927C>T	chr17.hg19:g.42949881G>A			B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	ENST00000426333.2	hg19	CCDS11489.1																																																																																				0.547	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		A	42949881	G	A	42949881	2	1	39	1	0	0	0	0	0	0	0	1	4963	933	33	2		2	EFTUD2	17	42949881	Silent	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	2468096	42949881	38245329	75	2855											
NFE2L1	4779	hgsc.bcm.edu	37	17	46128721	46128721	+	Silent	SNP	C	C	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr17:46128721C>A	ENST00000362042.3	+	2	857	c.241C>A	c.(241-243)Cgg>Agg	p.R81R	NFE2L1_ENST00000361665.3_Silent_p.R81R|NFE2L1_ENST00000585291.1_Silent_p.R81R|NFE2L1_ENST00000357480.5_Silent_p.R81R	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	81					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCACTGCCCGGCGGCTCCT	0.562																																																0													81	83	82					17																	46128721		2203	4300	6503	SO:0001819	synonymous_variant	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.241C>A	chr17.hg19:g.46128721C>A			D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	hg19	CCDS11524.1																																																																																				0.562	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		A	46128721	C	A	46128721	2	1	39	1	0	0	0	0	0	0	0	1	10369	643	23	4		4	NFE2L1	17	46128721	Silent	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	3178840	46128721	35066489	76	2856											
CLTC	1213	hgsc.bcm.edu	37	17	57754372	57754372	+	Silent	SNP	T	T	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr17:57754372T>C	ENST00000269122.3	+	17	2893	c.2619T>C	c.(2617-2619)ccT>ccC	p.P873P	CLTC_ENST00000393043.1_Silent_p.P873P|CLTC_ENST00000579815.1_3'UTR|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	873	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTGAGGAGCCTGCTACTCACA	0.428			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													59	64	62					17																	57754372		2203	4300	6503	SO:0001819	synonymous_variant	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2619T>C	chr17.hg19:g.57754372T>C			D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	hg19	CCDS32696.1																																																																																				0.428	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		C	57754372	T	C	57754372	2	2	39	1	0	0	0	0	0	0	0	1	3568	1567	55	3		3	CLTC	17	57754372	Silent	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	11625651	57754372	23440838	77	2857											
ABCA10	10349	hgsc.bcm.edu	37	17	67170897	67170897	+	Missense_Mutation	SNP	A	A	G	rs368716488		TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr17:67170897A>G	ENST00000269081.4	-	25	3808	c.2899T>C	c.(2899-2901)Tgg>Cgg	p.W967R	ABCA10_ENST00000519732.1_Intron|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	967					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCTGAAATCCATAACTGGGAT	0.348																																																0								A	ARG/TRP	0,4402		0,0,2201	64	70	68		2899	-0.4	0.1	17		68	1,8595		0,1,4297	no	missense	ABCA10	NM_080282.3	101	0,1,6498	GG,GA,AA		0.0116,0.0,0.0077	benign	967/1544	67170897	1,12997	2201	4298	6499	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2899T>C	chr17.hg19:g.67170897A>G	ENSP00000269081:p.Trp967Arg		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	hg19	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.075060	0.00379	0.0	1.16E-4	ENSG00000154263	ENST00000269081	T	0.80738	-1.41	3.3	-0.428	0.12306	.	.	.	.	.	T	0.50411	0.1614	N	0.03608	-0.345	0.24933	N	0.99191	B	0.10296	0.003	B	0.15484	0.013	T	0.39333	-0.9619	9	0.07030	T	0.85	.	3.54	0.07807	0.2691:0.0:0.2278:0.5031	.	967	Q8WWZ4	ABCAA_HUMAN	R	967	ENSP00000269081:W967R	ENSP00000269081:W967R	W	-	1	0	ABCA10	64682492	0.000000	0.05858	0.063000	0.19743	0.677000	0.39632	-1.398000	0.02509	-0.357000	0.08175	0.334000	0.21626	TGG		0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		G	67170897	A	G	67170897	3	3	39	1	0	0	0	0	1	0	0	0	29	217	8	3	1796	3	ABCA10	17	67170897	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	9416525	67170897	14024313	78	2858											
DCC	1630	hgsc.bcm.edu	37	18	50432459	50432459	+	Missense_Mutation	SNP	T	T	G			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr18:50432459T>G	ENST00000442544.2	+	3	1074	c.458T>G	c.(457-459)aTg>aGg	p.M153R	DCC_ENST00000412726.1_Start_Codon_SNP_p.M1R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	153	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGCCTTCATGGGAGACACA	0.463																																																0													95	89	91					18																	50432459		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.458T>G	chr18.hg19:g.50432459T>G	ENSP00000389140:p.Met153Arg			Missense_Mutation	SNP	ENST00000442544.2	hg19	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.912913	0.52439	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.55760	1.16;0.5	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.064022	0.64402	D	0.000003	T	0.26593	0.0650	N	0.04387	-0.21	0.80722	D	1	B;B	0.18968	0.032;0.001	B;B	0.15052	0.012;0.001	T	0.19549	-1.0302	10	0.10111	T	0.7	.	9.9749	0.41777	0.0:0.0792:0.0:0.9208	.	1;153	E7EQM8;P43146	.;DCC_HUMAN	R	153;86;1	ENSP00000389140:M153R;ENSP00000397322:M1R	ENSP00000304146:M86R	M	+	2	0	DCC	48686457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.352000	0.59404	2.171000	0.68590	0.533000	0.62120	ATG		0.463	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		G	50432459	T	G	50432459	3	3	39	1	0	0	0	0	1	0	0	0	4284	1464	51	5	468	5	DCC	18	50432459	Missense_Mutation	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10		50432459	27644789	79	2859											
TNFRSF11A	8792	hgsc.bcm.edu	37	18	60017119	60017119	+	Missense_Mutation	SNP	G	G	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr18:60017119G>C	ENST00000586569.1	+	3	270	c.232G>C	c.(232-234)Gat>Cat	p.D78H	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.D78H	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	78					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGAATACTTGGATAGCTGGAA	0.438																																																0													195	184	188					18																	60017119		2203	4300	6503	SO:0001583	missense	8792			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.232G>C	chr18.hg19:g.60017119G>C	ENSP00000465500:p.Asp78His		I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	hg19	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048412	0.36181	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.72051	-0.62	5.33	4.4	0.53042	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.160278	0.56097	D	0.000040	T	0.63022	0.2476	L	0.55103	1.725	0.34410	D	0.696278	B;B	0.31752	0.338;0.272	B;B	0.26864	0.065;0.074	T	0.70332	-0.4901	9	.	.	.	-22.1742	13.9329	0.64007	0.0:0.1522:0.8478:0.0	.	100;78	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	H	100;78	ENSP00000269485:D78H	.	D	+	1	0	TNFRSF11A	58168099	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	3.139000	0.50577	2.646000	0.89796	0.462000	0.41574	GAT		0.438	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			C	60017119	G	C	60017119	3	2	39	1	0	0	0	0	1	0	0	0	16289	1174	41	4	242	4	TNFRSF11A	18	60017119	Missense_Mutation	SNP	G	TCGA-5P-A9KE-01A-11D-A42J-10	9584660	60017119	18060129	80	2860											
ZNF557	79230	hgsc.bcm.edu	37	19	7083714	7083714	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr19:7083714T>C	ENST00000439035.2	+	8	1471	c.1231T>C	c.(1231-1233)Tac>Cac	p.Y411H	ZNF557_ENST00000414706.1_Missense_Mutation_p.Y418H|ZNF557_ENST00000252840.6_Missense_Mutation_p.Y418H			Q8N988	ZN557_HUMAN	zinc finger protein 557	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AAGTAACTCCTACCTTTCTGT	0.368																																																0													90	92	91					19																	7083714		2174	4284	6458	SO:0001583	missense	79230			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.1231T>C	chr19.hg19:g.7083714T>C	ENSP00000398965:p.Tyr411His		Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	hg19	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	T	5.054	0.195550	0.09599	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.07444	3.19;3.19;3.19	0.994	-0.105	0.13601	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.16790	0.44	0.09310	N	1	B;B	0.15473	0.007;0.013	B;B	0.09377	0.002;0.004	T	0.46803	-0.9165	9	0.10377	T	0.69	.	2.0833	0.03640	0.2944:0.0:0.2971:0.4085	.	411;418	Q8N988;Q8N988-2	ZN557_HUMAN;.	H	418;418;411	ENSP00000252840:Y418H;ENSP00000404065:Y418H;ENSP00000398965:Y411H	ENSP00000252840:Y418H	Y	+	1	0	ZNF557	7034714	0.000000	0.05858	0.064000	0.19789	0.002000	0.02628	-3.017000	0.00644	-0.106000	0.12110	-0.991000	0.02546	TAC		0.368	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		C	7083714	T	C	7083714	3	2	39	1	0	0	0	0	1	0	0	0	17993	1522	53	3	1274	3	ZNF557	19	7083714	Missense_Mutation	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10		7083714	52045269	81	2861											
KEAP1	9817	hgsc.bcm.edu	37	19	10602767	10602767	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr19:10602767C>A	ENST00000171111.5	-	3	1358	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.V271L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	271	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TGGCAGCGCACGGCCCGCAGC	0.617																																																0													57	57	57					19																	10602767		2203	4300	6503	SO:0001583	missense	9817			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.811G>T	chr19.hg19:g.10602767C>A	ENSP00000171111:p.Val271Leu		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	hg19	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208480	0.95069	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.76316	-1.01;-1.01	5.61	5.61	0.85477	BTB/Kelch-associated (2);	0.056422	0.64402	N	0.000001	D	0.84897	0.5574	M	0.82630	2.6	0.80722	D	1	P	0.52170	0.951	P	0.50270	0.636	D	0.87391	0.2363	10	0.87932	D	0	.	17.1459	0.86766	0.0:1.0:0.0:0.0	.	271	Q14145	KEAP1_HUMAN	L	271	ENSP00000171111:V271L;ENSP00000377245:V271L	ENSP00000171111:V271L	V	-	1	0	KEAP1	10463767	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	5.874000	0.69652	2.656000	0.90262	0.561000	0.74099	GTG		0.617	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		A	10602767	C	A	10602767	3	1	39	1	0	0	0	0	1	0	0	0	8143	536	19	4	1079	4	KEAP1	19	10602767	Missense_Mutation	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	3519053	10602767	48526216	82	2862											
IL17RA	23765	hgsc.bcm.edu	37	22	17590035	17590035	+	Missense_Mutation	SNP	A	A	C			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr22:17590035A>C	ENST00000319363.6	+	13	2059	c.1926A>C	c.(1924-1926)gaA>gaC	p.E642D		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	642					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCGGGGAGGAAGGAGGAGCAG	0.721																																																0													4	4	4					22																	17590035		2040	4043	6083	SO:0001583	missense	23765			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1926A>C	chr22.hg19:g.17590035A>C	ENSP00000320936:p.Glu642Asp		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	hg19	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932763	0.52866	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.07800	3.16	4.89	1.27	0.21489	.	0.945953	0.08934	N	0.872522	T	0.10380	0.0254	M	0.70595	2.14	0.09310	N	1	P;P	0.47106	0.651;0.89	B;B	0.42625	0.115;0.393	T	0.27872	-1.0061	10	0.46703	T	0.11	-3.6798	1.3359	0.02145	0.4246:0.2756:0.0927:0.2071	.	590;642	D3YTB4;Q96F46	.;I17RA_HUMAN	D	590;642	ENSP00000320936:E642D	ENSP00000320936:E642D	E	+	3	2	IL17RA	15970035	0.024000	0.19004	0.004000	0.12327	0.011000	0.07611	0.018000	0.13422	0.301000	0.22738	0.459000	0.35465	GAA		0.721	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		C	17590035	A	C	17590035	3	2	39	1	0	0	0	0	1	0	0	0	7641	69	3	5	1976	5	IL17RA	22	17590035	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10		17590035	33714531	83	2863											
MICAL3	57553	hgsc.bcm.edu	37	22	18300493	18300493	+	Missense_Mutation	SNP	C	C	T	rs369106641		TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr22:18300493C>T	ENST00000441493.2	-	26	5286	c.4934G>A	c.(4933-4935)cGc>cAc	p.R1645H	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1645					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTCAGGCCGGCGCTCCTTGCC	0.711																																																0								C	HIS/ARG	0,3844		0,0,1922	15	19	18		4934	-3.4	0	22		18	1,8197		0,1,4098	no	missense	MICAL3	NM_015241.2	29	0,1,6020	TT,TC,CC		0.0122,0.0,0.0083	benign	1645/2003	18300493	1,12041	1922	4099	6021	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4934G>A	chr22.hg19:g.18300493C>T	ENSP00000416015:p.Arg1645His		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	hg19	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.047|4.047	0.006384|0.006384	0.07866|0.07866	0.0|0.0	1.22E-4|1.22E-4	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.62232	.|0.04	4.65|4.65	-3.39|-3.39	0.04868|0.04868	.|.	.|2.091240	.|0.02041	.|N	.|0.049305	T|T	0.37652|0.37652	0.1011|0.1011	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.13045|0.13045	-1.0524|-1.0524	5|10	.|0.44086	.|T	.|0.13	.|.	2.5643|2.5643	0.04779|0.04779	0.2761:0.3993:0.2159:0.1087|0.2761:0.3993:0.2159:0.1087	.|.	.|1645	.|Q7RTP6	.|MICA3_HUMAN	T|H	627|1645	.|ENSP00000416015:R1645H	.|ENSP00000416015:R1645H	A|R	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16680493|16680493	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.055000|0.055000	0.15305|0.15305	0.227000|0.227000	0.17795|0.17795	-0.871000|-0.871000	0.04042|0.04042	-0.291000|-0.291000	0.09656|0.09656	GCC|CGC		0.711	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			T	18300493	C	T	18300493	3	4	39	1	0	0	0	0	1	0	0	0	9573	768	27	1	1102	1	MICAL3	22	18300493	Missense_Mutation	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	710458	18300493	33004073	84	2864											
PPIL2	23759	hgsc.bcm.edu	37	22	22024222	22024222	+	Missense_Mutation	SNP	A	A	T			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr22:22024222A>T	ENST00000335025.8	+	2	144	c.53A>T	c.(52-54)tAc>tTc	p.Y18F	PPIL2_ENST00000406385.1_Missense_Mutation_p.Y18F|PPIL2_ENST00000398831.3_Missense_Mutation_p.Y18F|PPIL2_ENST00000492445.2_Missense_Mutation_p.Y18F|PPIL2_ENST00000412327.1_Missense_Mutation_p.Y18F|PPIL2_ENST00000456792.2_Missense_Mutation_p.Y18F					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					TGTGCTGAATACACTCACTTT	0.448																																																0													199	161	174					22																	22024222		2203	4300	6503	SO:0001583	missense	23759				CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"U-box domain containing"	9261	protein-coding gene	gene with protein product	"U-box domain containing 7"	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.53A>T	chr22.hg19:g.22024222A>T	ENSP00000334553:p.Tyr18Phe			Missense_Mutation	SNP	ENST00000335025.8	hg19	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.494928	0.64186	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000458567;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.28454	1.66;1.7;1.7;1.7;1.7;1.61	4.39	4.39	0.52855	.	0.071138	0.64402	D	0.000017	T	0.34890	0.0913	L	0.59436	1.845	0.50632	D	0.999883	P;P;P	0.47409	0.61;0.868;0.895	B;P;B	0.46299	0.219;0.511;0.313	T	0.22591	-1.0212	10	0.87932	D	0	.	10.2502	0.43364	1.0:0.0:0.0:0.0	.	18;18;18	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	F	18;18;18;18;49;18;18	ENSP00000390427:Y18F;ENSP00000334553:Y18F;ENSP00000381812:Y18F;ENSP00000445312:Y18F;ENSP00000384299:Y18F;ENSP00000396228:Y18F	ENSP00000334553:Y18F	Y	+	2	0	PPIL2	20354222	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	4.011000	0.57124	1.974000	0.57490	0.456000	0.33151	TAC		0.448	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			T	22024222	A	T	22024222	3	4	39	1	0	0	0	0	1	0	0	0	12332	391	14	5	59	5	PPIL2	22	22024222	Missense_Mutation	SNP	A	TCGA-5P-A9KE-01A-11D-A42J-10	3723729	22024222	29280344	85	2865											
MN1	4330	hgsc.bcm.edu	37	22	28193956	28193956	+	Missense_Mutation	SNP	T	T	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr22:28193956T>A	ENST00000302326.4	-	1	3530	c.2576A>T	c.(2575-2577)aAa>aTa	p.K859I		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	859					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CTGGCTCAGTTTCCTCTTGCC	0.662			T	ETV6	"AML, meningioma"																																		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													68	74	72					22																	28193956		1884	4092	5976	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2576A>T	chr22.hg19:g.28193956T>A	ENSP00000304956:p.Lys859Ile		A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	hg19	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966868	0.74131	.	.	ENSG00000169184	ENST00000302326	T	0.60920	0.15	3.74	3.74	0.42951	.	0.064498	0.64402	D	0.000019	T	0.61912	0.2385	L	0.29908	0.895	0.47862	D	0.99953	D	0.76494	0.999	D	0.87578	0.998	T	0.59306	-0.7479	10	0.33141	T	0.24	0.0091	11.4387	0.50083	0.0:0.0:0.0:1.0	.	859	Q10571	MN1_HUMAN	I	859	ENSP00000304956:K859I	ENSP00000304956:K859I	K	-	2	0	MN1	26523956	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.044000	0.64214	1.567000	0.49668	0.379000	0.24179	AAA		0.662	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		A	28193956	T	A	28193956	3	1	39	1	0	0	0	0	1	0	0	0	9675	1841	64	5	1394	5	MN1	22	28193956	Missense_Mutation	SNP	T	TCGA-5P-A9KE-01A-11D-A42J-10	6169734	28193956	23110610	86	2866											
EMID1	129080	hgsc.bcm.edu	37	22	29628294	29628294	+	Silent	SNP	C	C	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chr22:29628294C>A	ENST00000404820.3	+	8	853	c.726C>A	c.(724-726)acC>acA	p.T242T	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000334018.6_Silent_p.T242T|EMID1_ENST00000404755.3_Silent_p.T242T			Q96A84	EMID1_HUMAN	EMI domain containing 1	240	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CTGTGGGCACCCCTGGAGAGA	0.697																																																0													16	20	19					22																	29628294		2181	4257	6438	SO:0001819	synonymous_variant	129080			AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.726C>A	chr22.hg19:g.29628294C>A			B0QYK6|Q6ICG1|Q86SS7	Silent	SNP	ENST00000404820.3	hg19		.	.	.	.	.	.	.	.	.	.	C	6.566	0.472782	0.12461	.	.	ENSG00000186998	ENST00000433143	.	.	.	4.12	0.833	0.18875	.	.	.	.	.	T	0.51635	0.1686	.	.	.	0.52501	D	0.999958	.	.	.	.	.	.	T	0.40831	-0.9542	4	.	.	.	-0.3746	5.7145	0.17952	0.0:0.6496:0.0:0.3504	.	.	.	.	H	105	.	.	P	+	2	0	EMID1	27958294	0.171000	0.23029	0.523000	0.27875	0.749000	0.42624	0.362000	0.20284	0.466000	0.27193	0.555000	0.69702	CCC		0.697	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		A	29628294	C	A	29628294	2	1	39	1	0	0	0	0	0	0	0	1	5093	610	22	4		4	EMID1	22	29628294	Silent	SNP	C	TCGA-5P-A9KE-01A-11D-A42J-10	1434338	29628294	21676272	87	2867											
KDM6A	7403	hgsc.bcm.edu	37	X	44929004	44929005	+	Frame_Shift_Ins	INS	-	-	A			TCGA-5P-A9KE-01A-11D-A42J-10	TCGA-5P-A9KE-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bbd6f0f2-a322-4772-8c98-3594288fbf8d	f4097292-72af-4234-b9af-3cdcbb8333b2	g.chrX:44929004_44929005insA	ENST00000377967.4	+	17	2145_2146	c.2104_2105insA	c.(2104-2106)cacfs	p.H702fs	KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.H709fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.H657fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.H623fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	702	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.H702fs*28(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCTCTCCTCTCACACTGCTACC	0.515			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	7	Whole gene deletion(6)|Insertion - Frameshift(1)	oesophagus(2)|breast(2)|pancreas(2)|urinary_tract(1)																																								SO:0001589	frameshift_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2105dupA	chrX.hg19:g.44929005_44929005dupA	ENSP00000367203:p.His702fs		Q52LL9|Q5JVQ7	Frame_Shift_Ins	INS	ENST00000377967.4	hg19	CCDS14265.1																																																																																				0.515	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		A	44929005	-	A	44929004	7	5	39	1	0	1	1	0	0	0	0	0	8139	826	29	0	2170	0	KDM6A	23	44929004	Frame_Shift_Ins	INS	-	TCGA-5P-A9KE-01A-11D-A42J-10		44929004	110341556	88	2868											
HMCN1	83872	hgsc.bcm.edu	37	1	186114982	186114982	+	Silent	SNP	G	G	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr1:186114982G>T	ENST00000271588.4	+	93	14764	c.14535G>T	c.(14533-14535)gtG>gtT	p.V4845V	HMCN1_ENST00000367492.2_Silent_p.V4845V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4845	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCATCCTGTGCCAGTTAAAG	0.547																																																0													82	71	75					1																	186114982		2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14535G>T	chr1.hg19:g.186114982G>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																				0.547	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186114982	G	T	186114982	2	4	40	1	0	0	0	0	0	0	0	1	7222	1306	46	4		4	HMCN1	1	186114982	Silent	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10		186114982	63135639	1	2869											
CCDC74A	90557	hgsc.bcm.edu	37	2	132289289	132289289	+	Silent	SNP	C	C	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr2:132289289C>T	ENST00000295171.6	+	4	735	c.597C>T	c.(595-597)gaC>gaT	p.D199D	CCDC74A_ENST00000467992.2_Silent_p.D301D|CCDC74A_ENST00000409856.3_Silent_p.D133D	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	199										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAAAAGCTGACGTCTCCCAGA	0.587																																																0													54	94	81					2																	132289289		1850	4189	6039	SO:0001819	synonymous_variant	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.597C>T	chr2.hg19:g.132289289C>T			Q6P4I5	Silent	SNP	ENST00000295171.6	hg19	CCDS2167.1																																																																																				0.587	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		T	132289289	C	T	132289289	2	4	40	1	0	0	0	0	0	0	0	1	2849	535	19	1		1	CCDC74A	2	132289289	Silent	SNP	C	TCGA-5P-A9KH-01A-11D-A42J-10		132289289	110910084	2	2870											
SEL1L3	23231	hgsc.bcm.edu	37	4	25834646	25834646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr4:25834646G>A	ENST00000399878.3	-	5	1191	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.R204*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.R322*|SEL1L3_ENST00000513364.1_5'Flank	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	357						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATATCCAGTCGAAACCACTCC	0.393																																																0													106	105	106					4																	25834646		1926	4139	6065	SO:0001587	stop_gained	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1069C>T	chr4.hg19:g.25834646G>A	ENSP00000382767:p.Arg357*		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Nonsense_Mutation	SNP	ENST00000399878.3	hg19	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	36	5.924911	0.97110	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	.	.	.	6.03	3.32	0.38043	.	0.057213	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4793	7.9475	0.29995	0.0738:0.0:0.6407:0.2855	.	.	.	.	X	357;322;204	.	ENSP00000264868:R322X	R	-	1	2	SEL1L3	25443744	1.000000	0.71417	0.635000	0.29338	0.929000	0.56500	2.981000	0.49329	0.404000	0.25506	0.655000	0.94253	CGA		0.393	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		A	25834646	G	A	25834646	4	1	40	1	0	0	0	0	0	1	0	0	14018	1066	37	1	2409	1	SEL1L3	4	25834646	Nonsense_Mutation	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10		25834646	165319630	3	2871											
GABRB2	2561	hgsc.bcm.edu	37	5	160973398	160973398	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr5:160973398C>T	ENST00000393959.1	-	2	98	c.99G>A	c.(97-99)atG>atA	p.M33I	GABRB2_ENST00000520240.1_Missense_Mutation_p.M33I|GABRB2_ENST00000523730.1_5'Flank|GABRB2_ENST00000353437.6_Missense_Mutation_p.M33I|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000274547.2_Missense_Mutation_p.M33I			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	33					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TAACCAGCGACATATTACTAG	0.433																																																0													84	77	80					5																	160973398		2203	4300	6503	SO:0001583	missense	2561				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.99G>A	chr5.hg19:g.160973398C>T	ENSP00000377531:p.Met33Ile		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	hg19	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329800	0.60743	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240	T;T;T;T	0.79247	-1.24;-1.24;-1.25;-1.25	5.63	5.63	0.86233	.	0.037933	0.85682	D	0.000000	T	0.66665	0.2812	N	0.19112	0.55	0.80722	D	1	B;P;B	0.37985	0.007;0.613;0.003	B;B;B	0.38264	0.013;0.269;0.03	T	0.63756	-0.6565	10	0.10902	T	0.67	.	19.6807	0.95962	0.0:1.0:0.0:0.0	.	33;33;33	B7Z4P0;P47870;P47870-1	.;GBRB2_HUMAN;.	I	33	ENSP00000377531:M33I;ENSP00000274547:M33I;ENSP00000274546:M33I;ENSP00000429320:M33I	ENSP00000274547:M33I	M	-	3	0	GABRB2	160905976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.653000	0.90120	0.650000	0.86243	ATG		0.433	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			T	160973398	C	T	160973398	3	4	40	1	0	0	0	0	1	0	0	0	6169	478	17	2	1475	2	GABRB2	5	160973398	Missense_Mutation	SNP	C	TCGA-5P-A9KH-01A-11D-A42J-10		160973398	19941862	4	2872											
FAM46A	55603	hgsc.bcm.edu	37	6	82461742	82461742	+	Silent	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr6:82461742G>A	ENST00000320172.6	-	2	431	c.117C>T	c.(115-117)ggC>ggT	p.G39G	FAM46A_ENST00000369756.3_Silent_p.G120G|FAM46A_ENST00000369754.3_Silent_p.G58G	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	39			Missing. {ECO:0000269|PubMed:12054608, ECO:0000269|PubMed:16545789}.		regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		cgaagtcgccgccgccgaagt	0.667																																																0													7	8	8					6																	82461742		1601	3424	5025	SO:0001819	synonymous_variant	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.117C>T	chr6.hg19:g.82461742G>A			A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	hg19	CCDS34489.1																																																																																				0.667	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			A	82461742	G	A	82461742	2	1	40	1	0	0	0	0	0	0	0	1	5567	1074	38	1		1	FAM46A	6	82461742	Silent	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10		82461742	88653325	5	2873											
GRM3	2913	hgsc.bcm.edu	37	7	86394802	86394802	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr7:86394802G>A	ENST00000361669.2	+	2	1440	c.341G>A	c.(340-342)aGg>aAg	p.R114K	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R112K|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.R114K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	114					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GAGTTTGTCAGGGCATCTTTG	0.428																																					GBM(52;969 1098 3139 52280)											0													182	166	172					7																	86394802		2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.341G>A	chr7.hg19:g.86394802G>A	ENSP00000355316:p.Arg114Lys		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	hg19	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454649	0.63290	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720	T;T;T	0.52754	0.65;0.65;0.65	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.53617	1.68	0.80722	D	1	B;B	0.22146	0.065;0.026	B;B	0.28784	0.067;0.094	T	0.41538	-0.9503	10	0.41790	T	0.15	.	17.9854	0.89154	0.0:0.0:1.0:0.0	.	114;114	G5E9K2;Q14832	.;GRM3_HUMAN	K	114;114;112	ENSP00000355316:R114K;ENSP00000398767:R114K;ENSP00000378209:R112K	ENSP00000355316:R114K	R	+	2	0	GRM3	86232738	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.580000	0.74040	2.732000	0.93576	0.655000	0.94253	AGG		0.428	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86394802	G	A	86394802	3	1	40	1	0	0	0	0	1	0	0	0	6800	1000	35	2	343	2	GRM3	7	86394802	Missense_Mutation	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10		86394802	72743861	6	2874											
EPHB4	2050	hgsc.bcm.edu	37	7	100410509	100410509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr7:100410509C>A	ENST00000358173.3	-	12	2446	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Nonsense_Mutation_p.E660*	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	660	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCAGAAACTCACGCCGCTGC	0.627																																					GBM(200;2113 3072 25865 52728)											0													103	102	103					7																	100410509		2203	4300	6503	SO:0001587	stop_gained	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1978G>T	chr7.hg19:g.100410509C>A	ENSP00000350896:p.Glu660*		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Nonsense_Mutation	SNP	ENST00000358173.3	hg19	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	41	9.119006	0.99071	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	.	.	.	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.6721	0.77286	0.0:1.0:0.0:0.0	.	.	.	.	X	660	.	ENSP00000350896:E660X	E	-	1	0	EPHB4	100248445	1.000000	0.71417	0.955000	0.39395	0.173000	0.22820	7.705000	0.84606	2.368000	0.80403	0.650000	0.86243	GAG		0.627	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		A	100410509	C	A	100410509	4	1	40	1	0	0	0	0	0	1	0	0	5179	835	29	4	1009	4	EPHB4	7	100410509	Nonsense_Mutation	SNP	C	TCGA-5P-A9KH-01A-11D-A42J-10	14015707	100410509	58728154	7	2875											
SLC4A2	6522	hgsc.bcm.edu	37	7	150771197	150771197	+	Missense_Mutation	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr7:150771197G>A	ENST00000485713.1	+	17	3647	c.2607G>A	c.(2605-2607)atG>atA	p.M869I	SLC4A2_ENST00000461735.1_Missense_Mutation_p.M855I|SLC4A2_ENST00000413384.2_Missense_Mutation_p.M869I|SLC4A2_ENST00000310317.5_Missense_Mutation_p.M787I|SLC4A2_ENST00000392826.2_Missense_Mutation_p.M860I|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	869	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGAGAACATGACATGGGCCG	0.687																																																0													34	40	38					7																	150771197		2202	4300	6502	SO:0001583	missense	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2607G>A	chr7.hg19:g.150771197G>A	ENSP00000419412:p.Met869Ile		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	hg19	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	1.317	-0.600662	0.03744	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.54	-1.43	0.08884	Bicarbonate transporter, C-terminal (1);	2.629030	0.00927	N	0.002677	T	0.59252	0.2180	N	0.08118	0	0.19300	N	0.999979	B;B;B	0.11235	0.0;0.001;0.004	B;B;B	0.06405	0.0;0.001;0.002	T	0.49447	-0.8939	10	0.37606	T	0.19	.	6.7854	0.23670	0.422:0.2891:0.2888:0.0	.	860;855;869	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	I	869;869;787;860;855	ENSP00000419412:M869I;ENSP00000405600:M869I;ENSP00000311402:M787I;ENSP00000376571:M860I;ENSP00000419164:M855I	ENSP00000311402:M787I	M	+	3	0	SLC4A2	150402130	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.508000	0.06344	-0.176000	0.10707	-0.258000	0.10820	ATG		0.687	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		A	150771197	G	A	150771197	3	1	40	1	0	0	0	0	1	0	0	0	14660	1290	45	2	2669	2	SLC4A2	7	150771197	Missense_Mutation	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10	50360688	150771197	8367466	8	2876											
MYOM2	9172	hgsc.bcm.edu	37	8	2037960	2037960	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr8:2037960G>T	ENST00000262113.4	+	15	1915	c.1774G>T	c.(1774-1776)Ggc>Tgc	p.G592C	MYOM2_ENST00000523438.1_Missense_Mutation_p.G17C	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	592	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAACCGGCATGGCCTGAGCGA	0.572																																																0													134	104	114					8																	2037960		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1774G>T	chr8.hg19:g.2037960G>T	ENSP00000262113:p.Gly592Cys		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	hg19	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716094	0.68844	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.65178	-0.14;-0.14	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92947	0.6377	10	0.87932	D	0	.	19.6185	0.95645	0.0:0.0:1.0:0.0	.	592	P54296	MYOM2_HUMAN	C	592;17	ENSP00000262113:G592C;ENSP00000428396:G17C	ENSP00000262113:G592C	G	+	1	0	MYOM2	2025367	1.000000	0.71417	0.982000	0.44146	0.074000	0.17049	9.480000	0.97931	2.641000	0.89580	0.462000	0.41574	GGC		0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		T	2037960	G	T	2037960	3	4	40	1	0	0	0	0	1	0	0	0	10094	1348	47	4	1828	4	MYOM2	8	2037960	Missense_Mutation	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10		2037960	144326062	9	2877											
UBXN2B	137886	hgsc.bcm.edu	37	8	59343157	59343158	+	In_Frame_Ins	INS	-	-	AAG			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr8:59343157_59343158insAAG	ENST00000399598.2	+	3	390_391	c.268_269insAAG	c.(268-270)aaa>aAAGaa	p.91_92insE	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	91						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TGAACTTTTCAAAGAGGCAAGG	0.361																																																0																																										SO:0001652	inframe_insertion	137886			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"UBX domain containing"	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.269_271dupAAG	chr8.hg19:g.59343158_59343160dupAAG	ENSP00000382507:p.Glu91_Glu91dup		B3KWZ3	In_Frame_Ins	INS	ENST00000399598.2	hg19	CCDS43741.1																																																																																				0.361	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		AAG	59343158	-	AAG	59343157	7	5	40	1	0	1	1	0	0	0	0	0	16920	131	5	0	278	0	UBXN2B	8	59343157	In_Frame_Ins	INS	-	TCGA-5P-A9KH-01A-11D-A42J-10	57305197	59343157	87020865	10	2878											
PRUNE2	158471	hgsc.bcm.edu	37	9	79465477	79465477	+	Silent	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr9:79465477G>A	ENST00000376718.3	-	3	369	c.246C>T	c.(244-246)tcC>tcT	p.S82S	PRUNE2_ENST00000376713.3_Silent_p.S82S|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	82					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGAATGATTCGGAAATATTTA	0.428																																																0													157	162	160					9																	79465477		2203	4300	6503	SO:0001819	synonymous_variant	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.246C>T	chr9.hg19:g.79465477G>A			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	hg19	CCDS47982.1																																																																																				0.428	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		A	79465477	G	A	79465477	2	1	40	1	0	0	0	0	0	0	0	1	12646	1103	39	1		1	PRUNE2	9	79465477	Silent	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10		79465477	61747954	11	2879											
TRIM22	10346	hgsc.bcm.edu	37	11	5730402	5730402	+	Missense_Mutation	SNP	G	G	A	rs199987600		TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr11:5730402G>A	ENST00000379965.3	+	8	1298	c.1021G>A	c.(1021-1023)Gct>Act	p.A341T	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	341	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGATTTTTCTGCTTTTGGTGT	0.433																																					GBM(104;491 2336 5222)											0													156	143	147					11																	5730402		1861	4103	5964	SO:0001583	missense	10346			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1021G>A	chr11.hg19:g.5730402G>A	ENSP00000369299:p.Ala341Thr		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	hg19	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	7.371	0.626808	0.14257	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.04862	3.54	2.99	-0.531	0.11894	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.02929	0.0087	N	0.13098	0.295	0.09310	N	1	B;B;B	0.23377	0.084;0.001;0.001	B;B;B	0.17722	0.019;0.007;0.004	T	0.46665	-0.9175	9	0.22109	T	0.4	.	2.2684	0.04085	0.3013:0.0:0.4546:0.2442	.	263;337;341	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	T	341;152;263	ENSP00000369299:A341T	ENSP00000369299:A341T	A	+	1	0	TRIM22	5686978	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-1.073000	0.03430	0.109000	0.17891	-0.384000	0.06662	GCT		0.433	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		A	5730402	G	A	5730402	3	1	40	1	0	0	0	0	1	0	0	0	16501	1319	46	2	1047	2	TRIM22	11	5730402	Missense_Mutation	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10		5730402	129276114	12	2880											
SMPD1	6609	hgsc.bcm.edu	37	11	6411970	6411970	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr11:6411970G>T	ENST00000342245.4	+	1	310	c.142G>T	c.(142-144)Gct>Tct	p.A48S	SMPD1_ENST00000527275.1_Missense_Mutation_p.A48S|SMPD1_ENST00000356761.2_Missense_Mutation_p.A48S|SMPD1_ENST00000299397.3_Missense_Mutation_p.A48S|SMPD1_ENST00000533196.1_3'UTR	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	47					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	gctggcgctggcTCTGTCTGA	0.697																																																0													24	27	26					11																	6411970		2201	4296	6497	SO:0001583	missense	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.142G>T	chr11.hg19:g.6411970G>T	ENSP00000340409:p.Ala48Ser		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	hg19	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521946	0.27211	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.10382	2.88;2.88;2.89;2.89	.	.	.	.	0.196334	0.29861	N	0.011014	T	0.07143	0.0181	L	0.40543	1.245	0.09310	N	1	B;P;P	0.40476	0.442;0.718;0.629	B;B;B	0.35607	0.11;0.206;0.163	T	0.24728	-1.0152	9	0.56958	D	0.05	-36.845	5.0357	0.14432	0.0:0.0:1.0:0.0	.	48;48;46	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	S	48	ENSP00000299397:A48S;ENSP00000349203:A48S;ENSP00000340409:A48S;ENSP00000435350:A48S	ENSP00000299397:A48S	A	+	1	0	SMPD1	6368546	0.045000	0.20229	0.241000	0.24154	0.101000	0.19017	0.462000	0.21956	-0.000000	0.14550	0.000000	0.15137	GCT		0.697	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		T	6411970	G	T	6411970	3	4	40	1	0	0	0	0	1	0	0	0	14810	1203	42	4	144	4	SMPD1	11	6411970	Missense_Mutation	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10	681568	6411970	128594546	13	2881											
MLL2	8085	hgsc.bcm.edu	37	12	49438022	49438022	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr12:49438022G>T	ENST00000301067.7	-	21	5148	c.5149C>A	c.(5149-5151)Cag>Aag	p.Q1717K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1717					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACCTCCGCCTGTGCAGCAGGC	0.617											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													48	55	53					12																	49438022		2119	4237	6356	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5149C>A	chr12.hg19:g.49438022G>T	ENSP00000301067:p.Gln1717Lys	962	O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070431	0.36566	.	.	ENSG00000167548	ENST00000301067	T	0.78707	-1.2	4.82	3.9	0.45041	.	0.000000	0.33457	N	0.004900	T	0.57533	0.2060	N	0.22421	0.69	0.24145	N	0.995719	B	0.34061	0.436	B	0.26202	0.067	T	0.55444	-0.8140	10	0.87932	D	0	.	4.7551	0.13080	0.1743:0.0:0.6471:0.1787	.	1717	O14686	MLL2_HUMAN	K	1717	ENSP00000301067:Q1717K	ENSP00000301067:Q1717K	Q	-	1	0	MLL2	47724289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.428000	0.44749	2.498000	0.84270	0.563000	0.77884	CAG		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49438022	G	T	49438022	3	4	40	1	0	0	0	0	1	0	0	0	9623	1386	48	4	11600	4	MLL2	12	49438022	Missense_Mutation	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10		49438022	84413873	14	2882											
GRASP	160622	hgsc.bcm.edu	37	12	52408635	52408635	+	Silent	SNP	C	C	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr12:52408635C>T	ENST00000293662.4	+	8	920	c.840C>T	c.(838-840)gcC>gcT	p.A280A	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000380039.2_Silent_p.A137A|GRASP_ENST00000552049.1_Silent_p.A137A	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	280					protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGGCGACGCCGACGACGCCG	0.821																																																0													1	1	1					12																	52408635		646	1615	2261	SO:0001819	synonymous_variant	160622			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.840C>T	chr12.hg19:g.52408635C>T			Q6PIF8|Q7Z741	Silent	SNP	ENST00000293662.4	hg19	CCDS8817.1																																																																																				0.821	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			T	52408635	C	T	52408635	2	4	40	1	0	0	0	0	0	0	0	1	6757	639	23	1		1	GRASP	12	52408635	Silent	SNP	C	TCGA-5P-A9KH-01A-11D-A42J-10	2970613	52408635	81443260	15	2883											
GPR137C	283554	hgsc.bcm.edu	37	14	53101695	53101695	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr14:53101695G>T	ENST00000321662.6	+	7	1152	c.1152G>T	c.(1150-1152)atG>atT	p.M384I		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	384						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					ATGGCACCATGACTGGGTGTG	0.418																																																0													116	114	115					14																	53101695		1940	4138	6078	SO:0001583	missense	283554			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.1152G>T	chr14.hg19:g.53101695G>T	ENSP00000315106:p.Met384Ile		Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	hg19	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.724|1.724	-0.495942|-0.495942	0.04291|0.04291	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000542169|ENST00000321662	.|T	.|0.37584	.|1.19	5.92|5.92	2.35|2.35	0.29111|0.29111	.|.	.|0.114776	.|0.64402	.|N	.|0.000010	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.00413|0.00413	-1.525|-1.525	0.33382|0.33382	D|D	0.575044|0.575044	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.10291|0.10291	-1.0636|-1.0636	5|10	.|0.21014	.|T	.|0.42	-19.4003|-19.4003	4.6484|4.6484	0.12584|0.12584	0.1073:0.1726:0.5872:0.133|0.1073:0.1726:0.5872:0.133	.|.	.|384;213	.|Q8N3F9;B3KW22	.|G137C_HUMAN;.	Y|I	354|384	.|ENSP00000315106:M384I	.|ENSP00000315106:M384I	D|M	+|+	1|3	0|0	GPR137C|GPR137C	52171445|52171445	0.974000|0.974000	0.33945|0.33945	0.993000|0.993000	0.49108|0.49108	0.780000|0.780000	0.44128|0.44128	0.995000|0.995000	0.29706|0.29706	1.393000|1.393000	0.46605|0.46605	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.418	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		T	53101695	G	T	53101695	3	4	40	1	0	0	0	0	1	0	0	0	6649	1290	45	4	1178	4	GPR137C	14	53101695	Missense_Mutation	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10		53101695	54247845	16	2884											
DUOXA1	90527	hgsc.bcm.edu	37	15	45415103	45415103	+	Missense_Mutation	SNP	G	G	A	rs374411208		TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr15:45415103G>A	ENST00000560572.1	-	1	115	c.110C>T	c.(109-111)aCg>aTg	p.T37M	DUOXA1_ENST00000558422.1_Missense_Mutation_p.T37M|DUOXA1_ENST00000558996.1_Missense_Mutation_p.T37M|DUOXA1_ENST00000559014.1_Missense_Mutation_p.T37M|DUOXA1_ENST00000430224.2_Missense_Mutation_p.T37M|DUOXA1_ENST00000267803.4_Missense_Mutation_p.T37M	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	37					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GACGATGAACGTGGCCAGTGC	0.572																																																0								G	MET/THR	0,4396		0,0,2198	144	120	128		110	3.5	1	15		128	1,8595	1.2+/-3.3	0,1,4297	no	missense	DUOXA1	NM_144565.2	81	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	37/484	45415103	1,12991	2198	4298	6496	SO:0001583	missense	90527			BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.110C>T	chr15.hg19:g.45415103G>A	ENSP00000454084:p.Thr37Met		Q8N6K9|Q96MI4	Missense_Mutation	SNP	ENST00000560572.1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.64	3.179690	0.57800	0.0	1.16E-4	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.57595	0.39;0.39	5.4	3.54	0.40534	.	0.105523	0.64402	D	0.000004	T	0.67552	0.2905	M	0.68317	2.08	0.35847	D	0.826508	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.98;0.987;0.99;0.991	T	0.75436	-0.3318	10	0.87932	D	0	-20.3562	10.7497	0.46203	0.154:0.0:0.846:0.0	.	37;37;37;37	B5M0C0;B5M0B8;Q1HG43;A8K9Q6	.;.;DOXA1_HUMAN;.	M	37	ENSP00000267803:T37M;ENSP00000415512:T37M	ENSP00000267803:T37M	T	-	2	0	DUOXA1	43202395	0.978000	0.34361	0.998000	0.56505	0.535000	0.34838	1.451000	0.35145	0.863000	0.35553	0.655000	0.94253	ACG		0.572	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		A	45415103	G	A	45415103	3	1	40	1	0	0	0	0	1	0	0	0	4804	1145	40	1	1373	1	DUOXA1	15	45415103	Missense_Mutation	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10		45415103	57116289	17	2885											
MCTP2	55784	hgsc.bcm.edu	37	15	95001475	95001477	+	Splice_Site	DEL	AGT	AGT	-			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	AGT	AGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr15:95001475_95001477delAGT	ENST00000357742.4	+	19	2360	c.2360delAGT	c.(2359-2361)aag>ag	p.K787del	MCTP2_ENST00000451018.3_Splice_Site_p.K732del	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	787					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGGATTAAGAAGTAAGTTCTAAA	0.399																																																0																																										SO:0001630	splice_region_variant	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2360+1AGT>-	chr15.hg19:g.95001475_95001477delAGT			A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Frame_Shift_Del	DEL	ENST00000357742.4	hg19	CCDS32338.1																																																																																				0.399	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	In_Frame_Del	-	95001477	AGT	-	95001475	8	5	40	1	0	1	0	1	0	0	1	0	9403	86	3	0	2510	0	MCTP2	15	95001475	Splice_Site	DEL	AGT	TCGA-5P-A9KH-01A-11D-A42J-10	49586372	95001475	7529917	18	2886											
SLC13A5	284111	hgsc.bcm.edu	37	17	6594200	6594200	+	Silent	SNP	C	C	T	rs138802643		TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr17:6594200C>T	ENST00000433363.2	-	10	1568	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	SLC13A5_ENST00000293800.6_Silent_p.P428P|SLC13A5_ENST00000573648.1_Silent_p.P445P|SLC13A5_ENST00000381074.4_Silent_p.P402P	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	445					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGATGGCTGCCGGGGGCACTG	0.622																																																0								C	,	1,4405	2.1+/-5.4	0,1,2202	181	160	167		1335,1335	-10.1	0	17	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC13A5	NM_001143838.1,NM_177550.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	445/523,445/569	6594200	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284111			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1335G>A	chr17.hg19:g.6594200C>T			B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	hg19	CCDS11079.1																																																																																				0.622	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		T	6594200	C	T	6594200	2	4	40	1	0	0	0	0	0	0	0	1	14401	639	23	1		1	SLC13A5	17	6594200	Silent	SNP	C	TCGA-5P-A9KH-01A-11D-A42J-10		6594200	74601010	19	2887											
TP53	7157	hgsc.bcm.edu	37	17	7577515	7577517	+	In_Frame_Del	DEL	TGA	TGA	-	rs587781433		TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr17:7577515_7577517delTGA	ENST00000269305.4	-	7	953_955	c.764_766delTCA	c.(763-768)atcaca>aca	p.I255del	TP53_ENST00000455263.2_In_Frame_Del_p.I255del|TP53_ENST00000420246.2_In_Frame_Del_p.I255del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_In_Frame_Del_p.I255del|TP53_ENST00000359597.4_In_Frame_Del_p.I255del|TP53_ENST00000445888.2_In_Frame_Del_p.I255del	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	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I255S(10)|p.0?(8)|p.I255N(7)|p.I255del(7)|p.I255T(7)|p.T256A(3)|p.T256fs*89(3)|p.T256fs*8(2)|p.T256S(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I255M(1)|p.T256fs*90(1)|p.T256P(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.T256fs*17(1)|p.I254_T256del(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)	TCTTCCAGTGTGATGATGGTGAG	0.586		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	62	Substitution - Missense(31)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Substitution - coding silent(2)|Unknown(1)	breast(15)|ovary(7)|pancreas(6)|central_nervous_system(5)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|oesophagus(3)|lung(3)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)																																								SO:0001651	inframe_deletion	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.764_766delTCA	chr17.hg19:g.7577518_7577520delTGA	ENSP00000269305:p.Ile255del		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	In_Frame_Del	DEL	ENST00000269305.4	hg19	CCDS11118.1																																																																																				0.586	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		-	7577517	TGA	-	7577515	7	5	40	1	0	1	0	1	0	0	0	0	16386	1696	59	0	524	0	TP53	17	7577515	In_Frame_Del	DEL	TGA	TCGA-5P-A9KH-01A-11D-A42J-10	983315	7577515	73617695	20	2888											
TAC4	255061	hgsc.bcm.edu	37	17	47921450	47921450	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr17:47921450C>A	ENST00000334568.4	-	2	192	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	TAC4_ENST00000326219.5_Missense_Mutation_p.G59W|TAC4_ENST00000352793.2_Missense_Mutation_p.G59W|TAC4_ENST00000398154.1_Missense_Mutation_p.G59W|RP11-304F15.3_ENST00000376609.1_RNA|TAC4_ENST00000436235.1_Missense_Mutation_p.G59W	NM_170685.2	NP_733786.2			tachykinin 4 (hemokinin)											breast(1)|large_intestine(1)|lung(3)	5						CCCATCAGCCCAAAGAACTGG	0.557																																																0													182	187	185					17																	47921450		1998	4184	6182	SO:0001583	missense	255061			AF521560	CCDS42357.1, CCDS42358.1, CCDS42359.1, CCDS42360.1, CCDS45727.1	17q21.33	2014-01-30			ENSG00000176358	ENSG00000176358		"Endogenous ligands"	16641	protein-coding gene	gene with protein product		607833				11062498, 12383518	Standard	NM_170685		Approved	HK-1, Pptc, PPT-C	uc002ipp.1	Q86UU9	OTTHUMG00000161830	ENST00000334568.4:c.193G>T	chr17.hg19:g.47921450C>A	ENSP00000334042:p.Gly65Trp			Missense_Mutation	SNP	ENST00000334568.4	hg19	CCDS42357.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847466	0.71603	.	.	ENSG00000176358	ENST00000352793;ENST00000334568;ENST00000398154;ENST00000436235;ENST00000326219	.	.	.	4.9	3.91	0.45181	Tachykinin/Neurokinin-like, conserved site (1);	0.286836	0.25366	N	0.031192	T	0.65375	0.2685	L	0.36672	1.1	0.38235	D	0.941162	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	T	0.70594	-0.4829	9	0.87932	D	0	-13.9808	11.3861	0.49787	0.0:0.8175:0.1825:0.0	.	59;59;59;59;65	Q86UU9-4;Q86UU9-2;Q86UU9-3;Q86UU9-5;Q86UU9	.;.;.;.;TKN4_HUMAN	W	59;65;59;59;59	.	ENSP00000325286:G59W	G	-	1	0	TAC4	45276449	0.997000	0.39634	0.999000	0.59377	0.986000	0.74619	1.991000	0.40727	1.398000	0.46701	0.650000	0.86243	GGG		0.557	TAC4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366198.1	NM_170685		A	47921450	C	A	47921450	3	1	40	1	0	0	0	0	1	0	0	0	15505	594	21	4	164	4	TAC4	17	47921450	Missense_Mutation	SNP	C	TCGA-5P-A9KH-01A-11D-A42J-10	40343935	47921450	33273760	21	2889											
MEGF8	1954	hgsc.bcm.edu	37	19	42866746	42866746	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr19:42866746A>G	ENST00000251268.6	+	34	6055	c.6055A>G	c.(6055-6057)Aca>Gca	p.T2019A	MEGF8_ENST00000334370.4_Missense_Mutation_p.T1952A	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2019					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTTCAAGAGGACAGGTGAGCA	0.667																																																0													56	56	56					19																	42866746		2202	4300	6502	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6055A>G	chr19.hg19:g.42866746A>G	ENSP00000251268:p.Thr2019Ala		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	hg19		.	.	.	.	.	.	.	.	.	.	A	12.54	1.969158	0.34754	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21361	2.01;2.01	5.17	4.14	0.48551	.	0.000000	0.64402	D	0.000002	T	0.28665	0.0710	L	0.43152	1.355	0.80722	D	1	P;D	0.54964	0.944;0.969	B;P	0.56648	0.437;0.803	T	0.01363	-1.1374	10	0.27082	T	0.32	-8.6728	10.4224	0.44359	0.8534:0.0:0.0:0.1466	.	2019;1952	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	A	1952;2019	ENSP00000334219:T1952A;ENSP00000251268:T2019A	ENSP00000251268:T2019A	T	+	1	0	MEGF8	47558586	1.000000	0.71417	0.973000	0.42090	0.118000	0.20060	8.653000	0.91088	0.796000	0.33947	-0.490000	0.04691	ACA		0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		G	42866746	A	G	42866746	3	3	40	1	0	0	0	0	1	0	0	0	9465	275	10	3	5984	3	MEGF8	19	42866746	Missense_Mutation	SNP	A	TCGA-5P-A9KH-01A-11D-A42J-10		42866746	16262237	22	2890											
KCNG1	3755	hgsc.bcm.edu	37	20	49626294	49626294	+	Silent	SNP	G	G	A			TCGA-5P-A9KH-01A-11D-A42J-10	TCGA-5P-A9KH-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d91e36f3-e4a2-4af3-802a-3148b09be900	ccc45b0a-b066-47dd-934b-6f892b6c61a4	g.chr20:49626294G>A	ENST00000371571.4	-	2	867	c.582C>T	c.(580-582)cgC>cgT	p.R194R	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.R194R|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	194					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCTCGCTGTCGCGGCCCTCGC	0.716																																																0													18	20	19					20																	49626294		2199	4282	6481	SO:0001819	synonymous_variant	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.582C>T	chr20.hg19:g.49626294G>A			A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	hg19	CCDS13436.1																																																																																				0.716	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		A	49626294	G	A	49626294	2	1	40	1	0	0	0	0	0	0	0	1	8029	1074	38	1		1	KCNG1	20	49626294	Silent	SNP	G	TCGA-5P-A9KH-01A-11D-A42J-10		49626294	13399226	23	2891											
MMEL1	79258	broad.mit.edu;hgsc.bcm.edu	37	1	2530196	2530196	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:2530196G>C	ENST00000378412.3	-	12	1236	c.1075C>G	c.(1075-1077)Cta>Gta	p.L359V	MMEL1_ENST00000288709.6_Missense_Mutation_p.L350V|MMEL1_ENST00000502556.1_Missense_Mutation_p.L202V			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	359						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L350I(1)|p.L350V(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACAGAGGATAGCACAGTTTGT	0.483																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											121	112	115					1																	2530196		2203	4300	6503	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1075C>G	1.37:g.2530196G>C	ENSP00000367668:p.Leu359Val		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439443	0.43326	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.75477	-0.94;-0.94;-0.94	4.82	2.7	0.31948	Peptidase M13 (1);	0.118844	0.52532	D	0.000067	T	0.73218	0.3559	L	0.58583	1.82	0.43080	D	0.994737	P	0.41159	0.74	P	0.48738	0.588	T	0.72603	-0.4243	10	0.62326	D	0.03	-15.5577	5.6068	0.17385	0.1067:0.0:0.5325:0.3608	.	359	Q495T6	MMEL1_HUMAN	V	202;350;359;202	ENSP00000288709:L350V;ENSP00000367668:L359V;ENSP00000422492:L202V	ENSP00000288709:L350V	L	-	1	2	MMEL1	2520056	1.000000	0.71417	0.987000	0.45799	0.486000	0.33341	3.247000	0.51422	0.999000	0.39023	0.561000	0.74099	CTA		0.483	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		C	2530196	G	C	2530196	3	2	41	1	0	0	0	0	1	0	0	0	9648	962	34	4	1316	4	MMEL1	1	2530196	Missense_Mutation	SNP	G	TCGA-A3-3311-01A-01D-0966-08		2530196	246720425	1	2892											
C1orf158	93190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12820749	12820749	+	Silent	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:12820749G>A	ENST00000288048.5	+	4	666	c.450G>A	c.(448-450)caG>caA	p.Q150Q	C1orf158_ENST00000376210.3_Silent_p.Q112Q	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	150								p.Q150Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAGACAGCTCACACCCA	0.557																																																1	Substitution - coding silent(1)	kidney(1)											142	122	128					1																	12820749		2203	4300	6503	SO:0001819	synonymous_variant	93190			BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.450G>A	1.37:g.12820749G>A			Q5VUY4	Silent	SNP	ENST00000288048.5	37	CCDS147.1																																																																																				0.557	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		A	12820749	G	A	12820749	2	1	41	1	0	0	0	0	0	0	0	1	2009	962	34	2		2	C1orf158	1	12820749	Silent	SNP	G	TCGA-A3-3311-01A-01D-0966-08	10290553	12820749	236429872	2	2893											
PDE4B	5142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	66798124	66798124	+	Intron	SNP	G	G	A	rs200202611		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:66798124G>A	ENST00000329654.4	+	8	821				PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000371045.5_Missense_Mutation_p.G18S	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.G18S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CGGTGGTAGCGGTGACTCTGC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18901	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											91	92	92					1																	66798124		2203	4300	6503	SO:0001627	intron_variant	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.635-67G>A	1.37:g.66798124G>A			A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	CCDS632.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.698	0.129817	0.08981	.	.	ENSG00000184588	ENST00000371045	T	0.63096	-0.02	4.94	0.766	0.18476	.	.	.	.	.	T	0.15478	0.0373	N	0.14661	0.345	0.40136	D	0.976775	B	0.02656	0.0	B	0.01281	0.0	T	0.16012	-1.0417	9	0.08381	T	0.77	.	5.0262	0.14385	0.3476:0.1574:0.495:0.0	.	60	Q13945	.	S	18	ENSP00000360084:G18S	ENSP00000360084:G18S	G	+	1	0	PDE4B	66570712	0.001000	0.12720	0.517000	0.27799	0.844000	0.47949	-0.032000	0.12266	0.059000	0.16252	0.561000	0.74099	GGT		0.517	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		A	66798124	G	A	66798124	1	1	41	0	1	0	0	0	0	0	0	0	11642	1116	39	1		1	PDE4B	1	66798124	Intron	SNP	G	TCGA-A3-3311-01A-01D-0966-08	53977375	66798124	182452497	3	2894											
FCRL4	83417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157556209	157556209	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:157556209G>A	ENST00000271532.1	-	6	1019	c.884C>T	c.(883-885)cCc>cTc	p.P295L	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	295	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P295L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCCCCCTGAGGGCTGGGTCTC	0.617																																																1	Substitution - Missense(1)	kidney(1)											51	51	51					1																	157556209		2203	4300	6503	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.884C>T	1.37:g.157556209G>A	ENSP00000271532:p.Pro295Leu		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914711	0.33815	.	.	ENSG00000163518	ENST00000271532	D	0.85339	-1.97	4.12	4.12	0.48240	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39020	N	0.001495	D	0.90539	0.7035	M	0.89658	3.05	0.09310	N	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.83249	-0.0054	10	0.41790	T	0.15	.	12.0607	0.53561	0.0:0.0:1.0:0.0	.	295	Q96PJ5	FCRL4_HUMAN	L	295	ENSP00000271532:P295L	ENSP00000271532:P295L	P	-	2	0	FCRL4	155822833	0.915000	0.31059	0.047000	0.18901	0.044000	0.14063	2.930000	0.48924	2.255000	0.74692	0.467000	0.42956	CCC		0.617	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		A	157556209	G	A	157556209	3	1	41	1	0	0	0	0	1	0	0	0	5799	1232	43	2	691	2	FCRL4	1	157556209	Missense_Mutation	SNP	G	TCGA-A3-3311-01A-01D-0966-08	90758085	157556209	91694412	4	2895											
KIF21B	23046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200954092	200954092	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:200954092T>A	ENST00000422435.2	-	27	4014	c.3698A>T	c.(3697-3699)gAt>gTt	p.D1233V	KIF21B_ENST00000461742.2_Missense_Mutation_p.D1233V|KIF21B_ENST00000332129.2_Missense_Mutation_p.D1233V|KIF21B_ENST00000360529.5_Missense_Mutation_p.D1233V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1233					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1233V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GAATCCCACATCTGTGGACCT	0.612																																																1	Substitution - Missense(1)	kidney(1)											75	67	70					1																	200954092		2203	4300	6503	SO:0001583	missense	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3698A>T	1.37:g.200954092T>A	ENSP00000411831:p.Asp1233Val		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.396422	0.62177	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.73258	-0.43;-0.73;-0.67;-0.36	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72708	0.3494	L	0.51422	1.61	0.80722	D	1	D;P;P;P	0.57899	0.981;0.875;0.933;0.617	P;B;B;B	0.49637	0.617;0.212;0.276;0.242	T	0.74494	-0.3647	10	0.48119	T	0.1	.	15.7018	0.77547	0.0:0.0:0.0:1.0	.	1233;1233;1233;1233	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	1233	ENSP00000328494:D1233V;ENSP00000353724:D1233V;ENSP00000433808:D1233V;ENSP00000411831:D1233V	ENSP00000328494:D1233V	D	-	2	0	KIF21B	199220715	1.000000	0.71417	0.215000	0.23724	0.449000	0.32228	7.369000	0.79578	2.114000	0.64651	0.459000	0.35465	GAT		0.612	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200954092	T	A	200954092	3	1	41	1	0	0	0	0	1	0	0	0	8291	1435	50	5	1208	5	KIF21B	1	200954092	Missense_Mutation	SNP	T	TCGA-A3-3311-01A-01D-0966-08	43397883	200954092	48296529	5	2896											
CYB5R1	51706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202932260	202932260	+	Missense_Mutation	SNP	C	C	T	rs559078788		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:202932260C>T	ENST00000367249.4	-	8	753	c.679G>A	c.(679-681)Gag>Aag	p.E227K	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	227					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.E227K(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TGCAGTTCCTCTAAGTCCTCC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		7674	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											106	102	103					1																	202932260		2203	4300	6503	SO:0001583	missense	51706			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.679G>A	1.37:g.202932260C>T	ENSP00000356218:p.Glu227Lys		A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616392	0.87359	.	.	ENSG00000159348	ENST00000367249	D	0.87412	-2.25	5.98	5.06	0.68205	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.133205	0.49305	D	0.000151	D	0.90769	0.7102	M	0.86740	2.835	0.58432	D	0.999993	B	0.31503	0.326	B	0.42462	0.388	D	0.90732	0.4643	10	0.72032	D	0.01	-5.0745	12.2192	0.54425	0.0:0.9189:0.0:0.0811	.	227	Q9UHQ9	NB5R1_HUMAN	K	227	ENSP00000356218:E227K	ENSP00000356218:E227K	E	-	1	0	CYB5R1	201198883	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	4.634000	0.61325	2.837000	0.97791	0.591000	0.81541	GAG		0.473	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		T	202932260	C	T	202932260	3	4	41	1	0	0	0	0	1	0	0	0	4128	922	32	2	246	2	CYB5R1	1	202932260	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08	1978168	202932260	46318361	6	2897											
OPTC	26254	broad.mit.edu;hgsc.bcm.edu	37	1	203465362	203465362	+	Missense_Mutation	SNP	G	G	A	rs140125203	byFrequency	TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:203465362G>A	ENST00000367222.2	+	2	345	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	77					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.E77K(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAACTCCCCGAGGTGAGGGA	0.562																																																1	Substitution - Missense(1)	kidney(1)						G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	73	65	67		229	0.7	0.4	1	dbSNP_134	67	0,8600		0,0,4300	no	missense	OPTC	NM_014359.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	77/333	203465362	1,13005	2203	4300	6503	SO:0001583	missense	26254			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"oculoglycan"	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.229G>A	1.37:g.203465362G>A	ENSP00000356191:p.Glu77Lys		Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	G	0.376	-0.931549	0.02359	2.27E-4	0.0	ENSG00000188770	ENST00000367222;ENST00000448911	T;T	0.51071	0.72;0.72	3.9	0.683	0.17998	.	0.623886	0.14314	N	0.327461	T	0.27832	0.0685	L	0.33293	1	0.26274	N	0.978387	B	0.15473	0.013	B	0.10450	0.005	T	0.15752	-1.0426	10	0.15499	T	0.54	-9.6218	2.9253	0.05783	0.337:0.2632:0.3997:0.0	.	77	Q9UBM4	OPT_HUMAN	K	77	ENSP00000356191:E77K;ENSP00000399491:E77K	ENSP00000356191:E77K	E	+	1	0	OPTC	201731985	0.061000	0.20836	0.403000	0.26384	0.274000	0.26718	0.179000	0.16840	0.326000	0.23384	0.563000	0.77884	GAG		0.562	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		A	203465362	G	A	203465362	3	1	41	1	0	0	0	0	1	0	0	0	10890	1059	37	1	231	1	OPTC	1	203465362	Missense_Mutation	SNP	G	TCGA-A3-3311-01A-01D-0966-08	533102	203465362	45785259	7	2898											
PROX1	5629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214170133	214170133	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:214170133G>A	ENST00000366958.4	+	2	863	c.255G>A	c.(253-255)atG>atA	p.M85I	PROX1_ENST00000498508.2_Missense_Mutation_p.M85I|PROX1_ENST00000261454.4_Missense_Mutation_p.M85I|PROX1_ENST00000435016.1_Missense_Mutation_p.M85I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	85					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.M85I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ATGCCATGATGCCTTTTCCAG	0.473																																																1	Substitution - Missense(1)	kidney(1)											89	86	87					1																	214170133		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.255G>A	1.37:g.214170133G>A	ENSP00000355925:p.Met85Ile		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634282	0.67130	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	L	0.51422	1.61	0.80722	D	1	D	0.54964	0.969	D	0.70227	0.968	T	0.09818	-1.0657	10	0.62326	D	0.03	-4.9313	20.3626	0.98863	0.0:0.0:1.0:0.0	.	85	Q92786	PROX1_HUMAN	I	85	ENSP00000419517:M85I;ENSP00000420283:M85I;ENSP00000355925:M85I;ENSP00000400694:M85I;ENSP00000261454:M85I	ENSP00000261454:M85I	M	+	3	0	PROX1	212236756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.146000	0.71777	2.885000	0.99019	0.655000	0.94253	ATG		0.473	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		A	214170133	G	A	214170133	3	1	41	1	0	0	0	0	1	0	0	0	12565	1319	46	2	257	2	PROX1	1	214170133	Missense_Mutation	SNP	G	TCGA-A3-3311-01A-01D-0966-08	10704771	214170133	35080488	8	2899											
CDC42BPA	8476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227213828	227213828	+	Silent	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:227213828C>T	ENST00000366769.3	-	30	5644	c.4353G>A	c.(4351-4353)gtG>gtA	p.V1451V	CDC42BPA_ENST00000334218.5_Silent_p.V1451V|CDC42BPA_ENST00000366765.3_Silent_p.V1464V|CDC42BPA_ENST00000366766.2_Silent_p.V1486V|CDC42BPA_ENST00000366767.3_Silent_p.V1370V|CDC42BPA_ENST00000366764.2_Silent_p.V1423V|CDC42BPA_ENST00000535525.1_Silent_p.V1431V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.V1486V(1)|p.V1370V(1)|p.V1451V(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTTCACTGTACACCGAGAGAT	0.398																																																3	Substitution - coding silent(3)	kidney(3)											90	89	89					1																	227213828		2203	4300	6503	SO:0001819	synonymous_variant	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4353G>A	1.37:g.227213828C>T				Silent	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	7.222	0.597662	0.13875	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.5	-5.2	0.02823	.	0.203706	0.41605	N	0.000843	T	0.05410	0.0143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37291	-0.9712	7	0.33940	T	0.23	.	1.8451	0.03158	0.201:0.2816:0.0984:0.4191	.	.	.	.	I	654;780;349;676	ENSP00000415388:V654I;ENSP00000401051:V780I;ENSP00000407120:V349I;ENSP00000408165:V676I	ENSP00000407120:V349I	V	-	1	0	CDC42BPA	225280451	0.771000	0.28555	0.019000	0.16419	0.800000	0.45204	-0.033000	0.12246	-1.209000	0.02631	-0.157000	0.13467	GTA		0.398	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		T	227213828	C	T	227213828	2	4	41	1	0	0	0	0	0	0	0	1	3074	465	17	2		2	CDC42BPA	1	227213828	Silent	SNP	C	TCGA-A3-3311-01A-01D-0966-08	13043695	227213828	22036793	9	2900											
TTC15	51112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	3391616	3391616	+	Silent	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr2:3391616C>T	ENST00000324266.5	+	2	417	c.222C>T	c.(220-222)gaC>gaT	p.D74D	TRAPPC12_ENST00000382110.2_Silent_p.D74D	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	74					vesicle-mediated transport (GO:0016192)			p.D74D(1)									TCATCTCTGACTCCCCCAACA	0.662																																																1	Substitution - coding silent(1)	kidney(1)											47	40	42					2																	3391616		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.222C>T	2.37:g.3391616C>T			B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	CCDS1652.1																																																																																				0.662	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		T	3391616	C	T	3391616	2	4	41	1	0	0	0	0	0	0	0	1	16687	564	20	2		2	TTC15	2	3391616	Silent	SNP	C	TCGA-A3-3311-01A-01D-0966-08		3391616	239807757	10	2901											
DHX57	90957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39075474	39075474	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr2:39075474delC	ENST00000295373.6	-	10	2227	c.2101delG	c.(2101-2103)gcafs	p.A701fs		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	701	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTAGAGTTGCACTCATTAAA	0.353																																					Melanoma(191;1090 2095 4375 23729 47341)											0													75	82	79					2																	39075474		2203	4300	6503	SO:0001589	frameshift_variant	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2101delG	2.37:g.39075474delC	ENSP00000295373:p.Ala701fs		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Frame_Shift_Del	DEL	ENST00000295373.6	37	CCDS1800.1																																																																																				0.353	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		-	39075474	C	-	39075474	7	5	41	1	0	1	0	1	0	0	0	0	4515	710	25	0	2119	0	DHX57	2	39075474	Frame_Shift_Del	DEL	C	TCGA-A3-3311-01A-01D-0966-08	35683858	39075474	204123899	11	2902											
CNNM3	26505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	97483238	97483238	+	Splice_Site	SNP	A	A	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr2:97483238A>C	ENST00000305510.3	+	1	1252	c.1224A>C	c.(1222-1224)cgA>cgC	p.R408R	CNNM3_ENST00000377060.3_Splice_Site_p.R408R	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	408	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.R408R(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						AATTCAAGCGAGGTAACGGCC	0.602																																																1	Substitution - coding silent(1)	kidney(1)											103	99	100					2																	97483238		2203	4300	6503	SO:0001630	splice_region_variant	26505			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"cyclin M3"	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1225+1A>C	2.37:g.97483238A>C			B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	ENST00000305510.3	37	CCDS2025.1																																																																																				0.602	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623	Silent	C	97483238	A	C	97483238	5	2	41	1	0	0	0	0	0	0	1	0	3616	318	11	5	1226	5	CNNM3	2	97483238	Splice_Site	SNP	A	TCGA-A3-3311-01A-01D-0966-08	58407764	97483238	145716135	12	2903											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179399168	179399168	+	Silent	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr2:179399168C>T	ENST00000591111.1	-	308	97475	c.97251G>A	c.(97249-97251)agG>agA	p.R32417R	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Silent_p.R25185R|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000589042.1_Silent_p.R34058R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Silent_p.R25118R|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.R24993R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342992.6_Silent_p.R31490R|TTN-AS1_ENST00000591867.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32417	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.R25118R(1)|p.R25185R(1)|p.R31490R(1)|p.R24993R(1)|p.R31488R(1)		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)			TGCGAGATTTCCTCTCTTTCA	0.413																																																5	Substitution - coding silent(5)	kidney(5)											133	134	134					2																	179399168		1942	4132	6074	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97251G>A	2.37:g.179399168C>T			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179399168	C	T	179399168	2	4	41	1	0	0	0	0	0	0	0	1	16740	854	30	2		2	TTN	2	179399168	Silent	SNP	C	TCGA-A3-3311-01A-01D-0966-08	81915930	179399168	63800205	13	2904											
ACCN4	55515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220396729	220396729	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr2:220396729C>G	ENST00000347842.3	+	3	1129	c.1115C>G	c.(1114-1116)aCg>aGg	p.T372R	ASIC4_ENST00000358078.4_Missense_Mutation_p.T372R|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	372					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.T372R(1)									GCAGATGAGACGTCGTTTGAG	0.632																																																1	Substitution - Missense(1)	kidney(1)											119	127	124					2																	220396729		2203	4300	6503	SO:0001583	missense	0			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1115C>G	2.37:g.220396729C>G	ENSP00000326627:p.Thr372Arg		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510522	0.64522	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.65178	-0.12;-0.14	3.8	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	M	0.72894	2.215	0.54753	D	0.999985	D;D;D	0.89917	0.997;0.992;1.0	D;D;D	0.75484	0.967;0.952;0.986	T	0.80027	-0.1554	10	0.54805	T	0.06	-19.6742	15.8578	0.78994	0.0:1.0:0.0:0.0	.	372;372;372	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	R	372	ENSP00000326627:T372R;ENSP00000350786:T372R	ENSP00000326627:T372R	T	+	2	0	ACCN4	220104973	1.000000	0.71417	0.942000	0.38095	0.914000	0.54420	4.712000	0.61888	2.152000	0.67230	0.561000	0.74099	ACG		0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		G	220396729	C	G	220396729	3	3	41	1	0	0	0	0	1	0	0	0	131	536	19	4	1125	4	ACCN4	2	220396729	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08	40997561	220396729	22802644	14	2905											
SETMAR	6419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	4355062	4355062	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:4355062A>G	ENST00000358065.4	+	2	704	c.637A>G	c.(637-639)Act>Gct	p.T213A	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.T213A	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	213	Histone-lysine N-methyltransferase.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)	p.T200A(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TGTTGACCCTACTTATATAGG	0.368								Chromatin Structure																																								1	Substitution - Missense(1)	kidney(1)											90	92	91					3																	4355062		2203	4300	6503	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.637A>G	3.37:g.4355062A>G	ENSP00000373354:p.Thr213Ala		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	A	2.999	-0.206391	0.06180	.	.	ENSG00000170364	ENST00000358065;ENST00000430981	D;D	0.82081	-1.57;-1.57	5.17	-3.18	0.05186	SET domain (3);	.	.	.	.	T	0.69477	0.3115	L	0.41906	1.305	0.34268	D	0.68066	B;B	0.27117	0.168;0.006	B;B	0.30646	0.118;0.013	T	0.57751	-0.7757	9	0.28530	T	0.3	.	2.5344	0.04711	0.5745:0.1102:0.2088:0.1065	.	200;213	Q53H47;C9JHK2	SETMR_HUMAN;.	A	213	ENSP00000373354:T213A;ENSP00000403000:T213A	ENSP00000373354:T213A	T	+	1	0	SETMAR	4330062	0.081000	0.21417	0.088000	0.20740	0.008000	0.06430	1.710000	0.37920	-0.506000	0.06558	-0.323000	0.08544	ACT		0.368	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		G	4355062	A	G	4355062	3	3	41	1	0	0	0	0	1	0	0	0	14146	391	14	3	643	3	SETMAR	3	4355062	Missense_Mutation	SNP	A	TCGA-A3-3311-01A-01D-0966-08		4355062	193667368	15	2906											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu	37	3	47059132	47059132	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:47059132C>T	ENST00000409792.3	-	20	7571	c.7529G>A	c.(7528-7530)cGc>cAc	p.R2510H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2510	Interaction with POLR2A.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R2510H(1)|p.R2007H(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGTACCTTGCGAGCCAGATG	0.453			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											125	102	110					3																	47059132		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7529G>A	3.37:g.47059132C>T	ENSP00000386759:p.Arg2510His		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	32	5.132835	0.94517	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.93076	-3.16	5.44	5.44	0.79542	SRI, Set2 Rpb1 interacting (1);	0.000000	0.56097	D	0.000037	D	0.95424	0.8514	M	0.64997	1.995	0.80722	D	1	P;P	0.52577	0.843;0.954	P;P	0.58130	0.452;0.833	D	0.95514	0.8588	10	0.87932	D	0	.	18.2031	0.89846	0.0:1.0:0.0:0.0	.	2510;2510	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	2510	ENSP00000386759:R2510H	ENSP00000386759:R2510H	R	-	2	0	SETD2	47034136	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.390000	0.79816	2.837000	0.97791	0.655000	0.94253	CGC		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47059132	C	T	47059132	3	4	41	1	0	0	0	0	1	0	0	0	14137	768	27	1	173	1	SETD2	3	47059132	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08	42704070	47059132	150963298	16	2907											
NICN1	84276	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49466658	49466658	+	Silent	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:49466658C>T	ENST00000273598.3	-	1	101	c.15G>A	c.(13-15)ttG>ttA	p.L5L	NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Silent_p.L5L	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	5						microtubule (GO:0005874)|nucleus (GO:0005634)		p.L5L(1)		kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAAGGCACCAAAACGCGGG	0.652																																																1	Substitution - coding silent(1)	kidney(1)											29	28	29					3																	49466658		2201	4294	6495	SO:0001819	synonymous_variant	84276			AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.15G>A	3.37:g.49466658C>T			Q8IZQ2	Silent	SNP	ENST00000273598.3	37	CCDS2798.1																																																																																				0.652	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		T	49466658	C	T	49466658	2	4	41	1	0	0	0	0	0	0	0	1	10415	593	21	2		2	NICN1	3	49466658	Silent	SNP	C	TCGA-A3-3311-01A-01D-0966-08	2407526	49466658	148555772	17	2908											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52598242	52598242	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:52598242A>C	ENST00000296302.7	-	23	3700	c.3699T>G	c.(3697-3699)tgT>tgG	p.C1233W	PBRM1_ENST00000409767.1_Missense_Mutation_p.C1248W|PBRM1_ENST00000410007.1_Missense_Mutation_p.C1208W|PBRM1_ENST00000409057.1_Missense_Mutation_p.C1233W|PBRM1_ENST00000394830.3_Missense_Mutation_p.C1208W|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Missense_Mutation_p.C1248W|PBRM1_ENST00000337303.4_Missense_Mutation_p.C1233W|PBRM1_ENST00000356770.4_Missense_Mutation_p.C1201W			Q86U86	PB1_HUMAN	polybromo 1	1233	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.C1233W(2)|p.C1201W(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACAACACAGCACACTTTCCTG	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											63	63	63					3																	52598242		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3699T>G	3.37:g.52598242A>C	ENSP00000296302:p.Cys1233Trp		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	18.26	3.583711	0.65992	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.53	3.18	0.36537	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.994;0.998;0.995;0.999;1.0;0.998;0.997	D	0.95107	0.8235	10	0.87932	D	0	-10.469	9.4812	0.38902	0.8574:0.0:0.1426:0.0	.	1208;1208;1233;1248;1248;1233;1201;1233	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	W	1201;1208;1233;1233;1233;1208;1248;1248;1232	ENSP00000349213:C1201W;ENSP00000378307:C1208W;ENSP00000296302:C1233W;ENSP00000338302:C1233W;ENSP00000386593:C1233W;ENSP00000386529:C1208W;ENSP00000386643:C1248W;ENSP00000386601:C1248W;ENSP00000387775:C1232W	ENSP00000296302:C1233W	C	-	3	2	PBRM1	52573282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.512000	0.53407	0.930000	0.37217	0.533000	0.62120	TGT		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52598242	A	C	52598242	3	2	41	1	0	0	0	0	1	0	0	0	11493	157	6	5	1233	5	PBRM1	3	52598242	Missense_Mutation	SNP	A	TCGA-A3-3311-01A-01D-0966-08	3131584	52598242	145424188	18	2909											
MBD4	8930	hgsc.bcm.edu	37	3	129152947	129152950	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	TTCT	TTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:129152947_129152950delTTCT	ENST00000249910.1	-	4	1406_1409	c.1231_1234delAGAA	c.(1231-1236)agaaggfs	p.RR411fs	MBD4_ENST00000507208.1_Frame_Shift_Del_p.RR411fs|MBD4_ENST00000393278.2_Frame_Shift_Del_p.RR93fs|MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000429544.2_Frame_Shift_Del_p.RR405fs|MBD4_ENST00000503197.1_Frame_Shift_Del_p.RR411fs	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	411					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTTGTTTTCCTTCTTTCTATCTGT	0.348								Base excision repair (BER), DNA glycosylases																																								0																																										SO:0001589	frameshift_variant	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1231_1234delAGAA	3.37:g.129152951_129152954delTTCT	ENSP00000249910:p.Arg411fs		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Del	DEL	ENST00000249910.1	37	CCDS3058.1																																																																																				0.348	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		-	129152950	TTCT	-	129152947	7	5	41	1	0	1	0	1	0	0	0	0	9348	1608	56	0	528	0	MBD4	3	129152947	Frame_Shift_Del	DEL	TTCT	TCGA-A3-3311-01A-01D-0966-08	76554705	129152947	68869483	19	2910											
ECT2	1894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	172480526	172480526	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:172480526T>C	ENST00000392692.3	+	10	1111	c.935T>C	c.(934-936)gTa>gCa	p.V312A	ECT2_ENST00000417960.1_Missense_Mutation_p.V280A|ECT2_ENST00000441497.2_Missense_Mutation_p.V281A|ECT2_ENST00000232458.5_Missense_Mutation_p.V281A|ECT2_ENST00000427830.1_Missense_Mutation_p.V281A|ECT2_ENST00000540509.1_Missense_Mutation_p.V312A	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	312	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.V281A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ACTCACCTTGTAGTTGAAGAG	0.348																																																1	Substitution - Missense(1)	kidney(1)											101	102	102					3																	172480526		2203	4300	6503	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.935T>C	3.37:g.172480526T>C	ENSP00000376457:p.Val312Ala		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.075634	0.76415	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	5.84	4.64	0.57946	BRCT (3);	0.265778	0.42682	D	0.000666	T	0.40372	0.1114	M	0.85197	2.74	0.58432	D	0.999995	P;D;D;P	0.55172	0.862;0.97;0.965;0.915	P;P;P;P	0.58266	0.562;0.836;0.831;0.746	T	0.43893	-0.9363	10	0.87932	D	0	-5.1662	12.4197	0.55514	0.1254:0.0:0.0:0.8746	.	312;312;281;280	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	A	281;312;281;280;281;312	ENSP00000232458:V281A;ENSP00000376457:V312A;ENSP00000401910:V281A;ENSP00000415876:V280A;ENSP00000412259:V281A;ENSP00000443160:V312A	ENSP00000232458:V281A	V	+	2	0	ECT2	173963220	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.730000	0.68546	2.226000	0.72624	0.482000	0.46254	GTA		0.348	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		C	172480526	T	C	172480526	3	2	41	1	0	0	0	0	1	0	0	0	4903	1638	57	3	872	3	ECT2	3	172480526	Missense_Mutation	SNP	T	TCGA-A3-3311-01A-01D-0966-08	43327579	172480526	25541904	20	2911											
CCKAR	886	hgsc.bcm.edu;ucsc.edu	37	4	26483745	26483745	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr4:26483745C>A	ENST00000295589.3	-	5	996	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	268					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.G268W(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGTAACACCCATCGCTGTCC	0.602																																																1	Substitution - Missense(1)	kidney(1)											75	79	78					4																	26483745		2203	4300	6503	SO:0001583	missense	886			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.802G>T	4.37:g.26483745C>A	ENSP00000295589:p.Gly268Trp		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134195	0.56828	.	.	ENSG00000163394	ENST00000295589	T	0.55760	0.5	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83757	0.0212	10	0.87932	D	0	.	18.7564	0.91835	0.0:1.0:0.0:0.0	.	268	P32238	CCKAR_HUMAN	W	268	ENSP00000295589:G268W	ENSP00000295589:G268W	G	-	1	0	CCKAR	26092843	1.000000	0.71417	0.801000	0.32222	0.015000	0.08874	7.818000	0.86416	2.444000	0.82710	0.462000	0.41574	GGG		0.602	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			A	26483745	C	A	26483745	3	1	41	1	0	0	0	0	1	0	0	0	2882	594	21	4	488	4	CCKAR	4	26483745	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08		26483745	164670531	21	2912											
THAP9	79725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83839153	83839153	+	Silent	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr4:83839153C>T	ENST00000302236.5	+	5	1839	c.1788C>T	c.(1786-1788)gtC>gtT	p.V596V	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	596					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.V596V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TCCCAAAGGTCATGCCTTTTC	0.348																																																1	Substitution - coding silent(1)	kidney(1)											38	38	38					4																	83839153		2203	4299	6502	SO:0001819	synonymous_variant	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1788C>T	4.37:g.83839153C>T			B3KRE2|Q59AC9	Silent	SNP	ENST00000302236.5	37	CCDS3598.1																																																																																				0.348	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		T	83839153	C	T	83839153	2	4	41	1	0	0	0	0	0	0	0	1	15856	813	29	2		2	THAP9	4	83839153	Silent	SNP	C	TCGA-A3-3311-01A-01D-0966-08	57355408	83839153	107315123	22	2913											
FGF2	11162	hgsc.bcm.edu;ucsc.edu	37	4	123813456	123813456	+	IGR	DEL	G	G	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr4:123813456delG	ENST00000304430.5	-	0	1169				FGF2_ENST00000608478.1_Frame_Shift_Del_p.V125fs|NUDT6_ENST00000608639.1_Intron|FGF2_ENST00000264498.3_Frame_Shift_Del_p.V258fs	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6							mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CAGTTGGTATGTGGCACTGAA	0.378																																																0													143	136	138					4																	123813456		2203	4300	6503	SO:0001628	intergenic_variant	2247			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507		4.37:g.123813456delG			A8K756|O95097|Q9UQD9	Frame_Shift_Del	DEL	ENST00000304430.5	37	CCDS43268.1																																																																																				0.378	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		-	123813456	G	-	123813456	6	5	41	0	1	1	0	1	0	0	0	0	5850	1377	48	0		0	FGF2	4	123813456	IGR	DEL	G	TCGA-A3-3311-01A-01D-0966-08	39974303	123813456	67340820	23	2914											
C4orf51	646603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	146650343	146650343	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr4:146650343G>C	ENST00000438731.1	+	4	389	c.389G>C	c.(388-390)gGt>gCt	p.G130A		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	130								p.G130A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						TGGGATTTTGGTGATTGTTTT	0.323																																																1	Substitution - Missense(1)	kidney(1)											100	94	96					4																	146650343		1826	4082	5908	SO:0001583	missense	646603				CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.389G>C	4.37:g.146650343G>C	ENSP00000391404:p.Gly130Ala			Missense_Mutation	SNP	ENST00000438731.1	37	CCDS47140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.36|10.36	1.329806|1.329806	0.24167|0.24167	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000438731|ENST00000511965	.|.	.|.	.|.	3.37|3.37	-2.55|-2.55	0.06288|0.06288	.|.	.|.	.|.	.|.	.|.	T|T	0.19967|0.19967	0.0480|0.0480	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.15930|.	0.015|.	B|.	0.17722|.	0.019|.	T|T	0.29701|0.29701	-1.0003|-1.0003	8|5	0.87932|.	D|.	0|.	.|.	5.8464|5.8464	0.18669|0.18669	0.2366:0.5013:0.2621:0.0|0.2366:0.5013:0.2621:0.0	.|.	130|.	C9J302|.	CD051_HUMAN|.	A|L	130|90	.|.	ENSP00000391404:G130A|.	G|V	+|+	2|1	0|0	C4orf51|C4orf51	146869793|146869793	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.035000|0.035000	0.12851|0.12851	-0.139000|-0.139000	0.10358|0.10358	-0.624000|-0.624000	0.05611|0.05611	0.585000|0.585000	0.79938|0.79938	GGT|GTG		0.323	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		C	146650343	G	C	146650343	3	2	41	1	0	0	0	0	1	0	0	0	2279	1261	44	4	403	4	C4orf51	4	146650343	Missense_Mutation	SNP	G	TCGA-A3-3311-01A-01D-0966-08	22836887	146650343	44503933	24	2915											
GOLPH3	64083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32126354	32126354	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr5:32126354C>A	ENST00000265070.6	-	4	1176	c.861G>T	c.(859-861)gaG>gaT	p.E287D	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	287					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.E287D(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCCACAGAACCTCATTGGTGT	0.507																																																1	Substitution - Missense(1)	kidney(1)											114	107	110					5																	32126354		2203	4300	6503	SO:0001583	missense	64083			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.861G>T	5.37:g.32126354C>A	ENSP00000265070:p.Glu287Asp		Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	3.120	-0.180775	0.06380	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	5.87	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.66506	2.035	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.54173	-0.8333	9	0.30078	T	0.28	.	12.2568	0.54629	0.0:0.861:0.0:0.139	.	287	Q9H4A6	GOLP3_HUMAN	D	287;270	.	ENSP00000265070:E287D	E	-	3	2	GOLPH3	32162111	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	3.549000	0.53681	0.921000	0.36994	-0.150000	0.13652	GAG		0.507	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		A	32126354	C	A	32126354	3	1	41	1	0	0	0	0	1	0	0	0	6570	680	24	4	39	4	GOLPH3	5	32126354	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08		32126354	148788906	25	2916											
LIFR	3977	broad.mit.edu;hgsc.bcm.edu	37	5	38484964	38484964	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr5:38484964C>A	ENST00000263409.4	-	18	2666	c.2504G>T	c.(2503-2505)gGa>gTa	p.G835V	LIFR_ENST00000453190.2_Missense_Mutation_p.G835V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	835					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.G835V(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AATAATTAATCCCACAGCTGA	0.378			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	2	Substitution - Missense(2)	kidney(2)											67	64	65					5																	38484964		2203	4300	6503	SO:0001583	missense	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2504G>T	5.37:g.38484964C>A	ENSP00000263409:p.Gly835Val		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642188	0.67244	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.59083	0.29;0.29	5.67	4.8	0.61643	.	0.333028	0.35320	N	0.003293	T	0.74966	0.3786	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73316	-0.4021	10	0.17832	T	0.49	-19.5102	16.8818	0.86065	0.0:0.872:0.128:0.0	.	835	P42702	LIFR_HUMAN	V	835	ENSP00000263409:G835V;ENSP00000398368:G835V	ENSP00000263409:G835V	G	-	2	0	LIFR	38520721	0.986000	0.35501	0.909000	0.35828	0.940000	0.58332	2.774000	0.47694	1.383000	0.46405	0.563000	0.77884	GGA		0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		A	38484964	C	A	38484964	3	1	41	1	0	0	0	0	1	0	0	0	8782	855	30	4	801	4	LIFR	5	38484964	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08	6358610	38484964	142430296	26	2917											
WDR36	134430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	110428228	110428228	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr5:110428228A>T	ENST00000513710.2	+	1	246	c.242A>T	c.(241-243)aAc>aTc	p.N81I	WDR36_ENST00000506538.2_Missense_Mutation_p.N81I|WDR36_ENST00000505303.1_Missense_Mutation_p.N25I|CTC-551A13.2_ENST00000507269.3_RNA			Q8NI36	WDR36_HUMAN	WD repeat domain 36	81					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.N81I(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTTTTCAGCAACGACATTCCA	0.602																																																1	Substitution - Missense(1)	kidney(1)											38	41	40					5																	110428228		2202	4300	6502	SO:0001583	missense	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.242A>T	5.37:g.110428228A>T	ENSP00000424628:p.Asn81Ile		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711359	0.68730	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.69175	-0.38;-0.38;0.13	5.98	-3.36	0.04913	WD40 repeat-like-containing domain (1);	0.388740	0.31897	N	0.006886	T	0.57975	0.2090	M	0.71871	2.18	0.47621	D	0.999473	P	0.35656	0.514	B	0.36335	0.222	T	0.54200	-0.8329	10	0.87932	D	0	-2.3335	7.1987	0.25868	0.4719:0.3214:0.2066:0.0	.	81	Q8NI36	WDR36_HUMAN	I	81;81;25	ENSP00000423067:N81I;ENSP00000424628:N81I;ENSP00000422158:N25I	ENSP00000422158:N25I	N	+	2	0	WDR36	110456127	0.465000	0.25815	0.172000	0.22920	0.998000	0.95712	-0.062000	0.11674	-0.329000	0.08527	0.528000	0.53228	AAC		0.602	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		T	110428228	A	T	110428228	3	4	41	1	0	0	0	0	1	0	0	0	17295	43	2	5	244	5	WDR36	5	110428228	Missense_Mutation	SNP	A	TCGA-A3-3311-01A-01D-0966-08	71943264	110428228	70487032	27	2918											
CPNE5	57699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36730739	36730739	+	Silent	SNP	A	A	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr6:36730739A>G	ENST00000244751.2	-	12	1434	c.810T>C	c.(808-810)agT>agC	p.S270S		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	270						extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.S270S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCCCGGTAACTGGTGGTGA	0.597																																																1	Substitution - coding silent(1)	kidney(1)											139	112	121					6																	36730739		2203	4300	6503	SO:0001819	synonymous_variant	57699			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.810T>C	6.37:g.36730739A>G			Q7Z6C8	Silent	SNP	ENST00000244751.2	37	CCDS4825.1																																																																																				0.597	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		G	36730739	A	G	36730739	2	3	41	1	0	0	0	0	0	0	0	1	3817	40	2	3		3	CPNE5	6	36730739	Silent	SNP	A	TCGA-A3-3311-01A-01D-0966-08		36730739	134384328	28	2919											
MAP3K7	6885	broad.mit.edu;hgsc.bcm.edu	37	6	91228282	91228282	+	Splice_Site	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr6:91228282C>A	ENST00000369329.3	-	16	1686		c.e16-1		MAP3K7_ENST00000369320.1_Splice_Site|MAP3K7_ENST00000369332.3_Splice_Site|MAP3K7_ENST00000369325.3_Intron|MAP3K7_ENST00000479630.1_Splice_Site|MAP3K7_ENST00000369327.3_Intron	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.?(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTGCTAGAGGCTGAAAATAAT	0.328																																																2	Unknown(2)	kidney(2)											57	54	55					6																	91228282		2203	4299	6502	SO:0001630	splice_region_variant	6885			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1525-1G>T	6.37:g.91228282C>A			B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Splice_Site	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780900	0.90282	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369320	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K7	91285003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.740000	0.93945	0.563000	0.77884	.		0.328	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	Intron	A	91228282	C	A	91228282	5	1	41	1	0	0	0	0	0	0	1	0	9257	811	28	4	304	4	MAP3K7	6	91228282	Splice_Site	SNP	C	TCGA-A3-3311-01A-01D-0966-08	54497543	91228282	79886785	29	2920											
GPR126	57211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	142737063	142737063	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr6:142737063G>T	ENST00000230173.6	+	20	3276	c.2800G>T	c.(2800-2802)Gca>Tca	p.A934S	GPR126_ENST00000367608.2_Missense_Mutation_p.A906S|GPR126_ENST00000296932.8_Missense_Mutation_p.A906S|GPR126_ENST00000367609.3_Missense_Mutation_p.A934S	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	934					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A905S(1)|p.A934S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CATTGCTGTTGCAGTCCTGTT	0.453																																																2	Substitution - Missense(2)	kidney(2)											220	211	214					6																	142737063		1986	4177	6163	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2800G>T	6.37:g.142737063G>T	ENSP00000230173:p.Ala934Ser		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539260	0.65085	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.4	5.4	0.78164	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	T	0.73401	0.3582	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.79424	-0.1809	10	0.87932	D	0	.	19.5245	0.95199	0.0:0.0:1.0:0.0	.	906;934;906;934	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	S	934;906;906;934	ENSP00000230173:A934S;ENSP00000356580:A906S;ENSP00000296932:A906S;ENSP00000356581:A934S	ENSP00000230173:A934S	A	+	1	0	GPR126	142778756	1.000000	0.71417	0.140000	0.22221	0.007000	0.05969	9.420000	0.97426	2.694000	0.91930	0.650000	0.86243	GCA		0.453	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			T	142737063	G	T	142737063	3	4	41	1	0	0	0	0	1	0	0	0	6642	1319	46	4	2878	4	GPR126	6	142737063	Missense_Mutation	SNP	G	TCGA-A3-3311-01A-01D-0966-08	51508781	142737063	28378004	30	2921											
INTS1	26173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	1539240	1539240	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:1539240C>T	ENST00000404767.3	-	6	798	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	INTS1_ENST00000493531.1_5'UTR|INTS1_ENST00000389470.4_Missense_Mutation_p.R366Q	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	238					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.R366Q(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACCCAGATCCGCTCCCCCAG	0.652																																																1	Substitution - Missense(1)	kidney(1)											47	57	54					7																	1539240		1979	4156	6135	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.713G>A	7.37:g.1539240C>T	ENSP00000385722:p.Arg238Gln		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847519	0.71603	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.70164	-0.46;-0.44	4.44	3.54	0.40534	.	0.127849	0.52532	D	0.000076	T	0.81706	0.4879	M	0.82056	2.57	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84533	0.0634	10	0.87932	D	0	.	14.5385	0.67979	0.0:0.8523:0.1477:0.0	.	366;238	A4D212;Q8N201	.;INT1_HUMAN	Q	238;366	ENSP00000385722:R238Q;ENSP00000374121:R366Q	ENSP00000374121:R366Q	R	-	2	0	INTS1	1505766	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.404000	0.79996	0.958000	0.37956	0.561000	0.74099	CGG		0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			T	1539240	C	T	1539240	3	4	41	1	0	0	0	0	1	0	0	0	7777	652	23	1	6031	1	INTS1	7	1539240	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08		1539240	157599423	31	2922											
KDELR2	11014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6502730	6502730	+	3'UTR	SNP	C	C	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:6502730C>G	ENST00000258739.4	-	0	865				DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron|KDELR2_ENST00000490996.1_Missense_Mutation_p.R143P	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2						intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)	p.R143P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GAATTCTGTCCGAGCACCCTG	0.418																																																1	Substitution - Missense(1)	kidney(1)											149	130	137					7																	6502730		2203	4300	6503	SO:0001624	3_prime_UTR_variant	11014			X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.*42G>C	7.37:g.6502730C>G			A4D2P4|Q6IPC5|Q96E30	Missense_Mutation	SNP	ENST00000258739.4	37	CCDS5351.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875802	0.33162	.	.	ENSG00000136240	ENST00000490996	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.22424	N	0.99911	P	0.47191	0.891	P	0.45913	0.497	T	0.41034	-0.9531	7	0.87932	D	0	.	9.5927	0.39557	0.0:0.8434:0.0:0.1566	.	143	P33947-2	.	P	143	.	ENSP00000420501:R143P	R	-	2	0	KDELR2	6469255	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.250000	0.32850	2.451000	0.82905	0.591000	0.81541	CGG		0.418	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			G	6502730	C	G	6502730	1	3	41	0	1	0	0	0	0	0	0	0	8122	652	23	4		4	KDELR2	7	6502730	3'UTR	SNP	C	TCGA-A3-3311-01A-01D-0966-08	4963490	6502730	152635933	32	2923											
CDK13	8621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	40085608	40085608	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:40085608A>T	ENST00000181839.4	+	6	3132	c.2527A>T	c.(2527-2529)Atc>Ttc	p.I843F	CDK13_ENST00000340829.5_Missense_Mutation_p.I843F|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	843	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.I843F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATGTTCCAATATCCTTCTAAA	0.323																																																1	Substitution - Missense(1)	kidney(1)											87	94	92					7																	40085608		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2527A>T	7.37:g.40085608A>T	ENSP00000181839:p.Ile843Phe		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894750	0.52121	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.57907	0.37;0.37	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.72669	0.3489	M	0.80508	2.5	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.993;0.994;0.998	T	0.75980	-0.3126	8	.	.	.	-6.7766	14.1741	0.65529	1.0:0.0:0.0:0.0	.	229;843;843	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	F	843	ENSP00000181839:I843F;ENSP00000340557:I843F	.	I	+	1	0	CDK13	40052133	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	9.139000	0.94554	1.930000	0.55929	0.528000	0.53228	ATC		0.323	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		T	40085608	A	T	40085608	3	4	41	1	0	0	0	0	1	0	0	0	3131	449	16	5	2549	5	CDK13	7	40085608	Missense_Mutation	SNP	A	TCGA-A3-3311-01A-01D-0966-08	33582878	40085608	119053055	33	2924											
ZMIZ2	83637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	44805139	44805139	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:44805139C>A	ENST00000309315.4	+	16	2326	c.2203C>A	c.(2203-2205)Ccc>Acc	p.P735T	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P709T|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P703T|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P735T|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P677T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	735	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.P735T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCCTGCAGCCCCCCTCAGT	0.692																																					NSCLC(20;604 852 1948 16908 50522)											1	Substitution - Missense(1)	kidney(1)											9	10	10					7																	44805139		1835	4026	5861	SO:0001583	missense	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2203C>A	7.37:g.44805139C>A	ENSP00000311778:p.Pro735Thr		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908146	0.33721	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.32515	1.46;1.46;1.46;1.45;1.47	5.14	1.16	0.20824	.	0.436137	0.21345	N	0.076080	T	0.26774	0.0655	M	0.75264	2.295	0.31381	N	0.679008	B;B;B	0.21520	0.057;0.005;0.057	B;B;B	0.21917	0.037;0.007;0.037	T	0.27872	-1.0061	10	0.15066	T	0.55	-3.647	5.1718	0.15114	0.0:0.4466:0.2639:0.2895	.	709;735;677	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	T	677;735;735;703;709;738	ENSP00000409648:P677T;ENSP00000311778:P735T;ENSP00000414723:P735T;ENSP00000396601:P703T;ENSP00000265346:P709T	ENSP00000265346:P709T	P	+	1	0	ZMIZ2	44771664	0.017000	0.18338	0.890000	0.34922	0.718000	0.41266	1.120000	0.31271	0.038000	0.15604	-0.258000	0.10820	CCC		0.692	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		A	44805139	C	A	44805139	3	1	41	1	0	0	0	0	1	0	0	0	17702	739	26	4	2261	4	ZMIZ2	7	44805139	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08	4719531	44805139	114333524	34	2925											
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121653811	121653811	+	Missense_Mutation	SNP	G	G	A	rs200249121		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:121653811G>A	ENST00000393386.2	+	12	5122	c.4711G>A	c.(4711-4713)Gca>Aca	p.A1571T	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1571					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1571N(1)|p.A1571T(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTCAGTTTTGCAGACACTAA	0.448																																																2	Substitution - Missense(2)	kidney(2)											140	140	140					7																	121653811		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4711G>A	7.37:g.121653811G>A	ENSP00000377047:p.Ala1571Thr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541967	0.45280	.	.	ENSG00000106278	ENST00000393386	T	0.44083	0.93	5.75	4.87	0.63330	.	0.180007	0.39210	N	0.001432	T	0.23133	0.0559	N	0.08118	0	0.80722	D	1	B	0.17038	0.02	B	0.16722	0.016	T	0.05616	-1.0874	10	0.39692	T	0.17	.	9.8464	0.41030	0.0:0.6619:0.269:0.0691	.	1571	P23471	PTPRZ_HUMAN	T	1571	ENSP00000377047:A1571T	ENSP00000377047:A1571T	A	+	1	0	PTPRZ1	121441047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.617000	0.36943	1.580000	0.49851	-0.139000	0.14373	GCA		0.448	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121653811	G	A	121653811	3	1	41	1	0	0	0	0	1	0	0	0	12820	1319	46	2	4757	2	PTPRZ1	7	121653811	Missense_Mutation	SNP	G	TCGA-A3-3311-01A-01D-0966-08	76848672	121653811	37484852	35	2926											
TRPV5	56302	broad.mit.edu;hgsc.bcm.edu	37	7	142626641	142626641	+	Silent	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:142626641G>A	ENST00000265310.1	-	4	717	c.369C>T	c.(367-369)atC>atT	p.I123I	TRPV5_ENST00000442623.1_Silent_p.I123I	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	123					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.I123I(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCACAACAGCGATGTGCAGTG	0.622																																																1	Substitution - coding silent(1)	kidney(1)											96	83	88					7																	142626641		2203	4300	6503	SO:0001819	synonymous_variant	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.369C>T	7.37:g.142626641G>A			A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	CCDS5875.1																																																																																				0.622	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		A	142626641	G	A	142626641	2	1	41	1	0	0	0	0	0	0	0	1	16604	1048	37	1		1	TRPV5	7	142626641	Silent	SNP	G	TCGA-A3-3311-01A-01D-0966-08	20972830	142626641	16512022	36	2927											
CSMD1	64478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	4495044	4495044	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr8:4495044C>A	ENST00000520002.1	-	2	677	c.122G>T	c.(121-123)gGc>gTc	p.G41V	CSMD1_ENST00000542608.1_Missense_Mutation_p.G41V|CSMD1_ENST00000539096.1_Missense_Mutation_p.G41V|CSMD1_ENST00000602557.1_Missense_Mutation_p.G41V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G41V|CSMD1_ENST00000602723.1_Missense_Mutation_p.G41V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G41V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	41	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G41V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCAATAGTGCCATTGGGACC	0.468																																																1	Substitution - Missense(1)	kidney(1)											75	75	75					8																	4495044		1903	4126	6029	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.122G>T	8.37:g.4495044C>A	ENSP00000430733:p.Gly41Val		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	18.01	3.528431	0.64860	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.32	5.32	0.75619	.	.	.	.	.	T	0.79598	0.4473	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86594	0.1862	9	0.87932	D	0	.	16.4949	0.84237	0.0:1.0:0.0:0.0	.	41	E5RIG2	.	V	41	ENSP00000383047:G41V;ENSP00000430733:G41V;ENSP00000441462:G41V;ENSP00000446243:G41V;ENSP00000441675:G41V	ENSP00000383047:G41V	G	-	2	0	CSMD1	4482452	1.000000	0.71417	0.997000	0.53966	0.222000	0.24845	7.755000	0.85180	2.508000	0.84585	0.585000	0.79938	GGC		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	4495044	C	A	4495044	3	1	41	1	0	0	0	0	1	0	0	0	3946	739	26	4	10661	4	CSMD1	8	4495044	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08		4495044	141868978	37	2928											
ELP3	55140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27970578	27970578	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr8:27970578G>A	ENST00000256398.8	+	7	882	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	ELP3_ENST00000524103.1_Missense_Mutation_p.V97M|ELP3_ENST00000521015.1_Missense_Mutation_p.V155M|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000537665.1_Missense_Mutation_p.V50M|ELP3_ENST00000380353.4_Missense_Mutation_p.V77M|ELP3_ENST00000542181.1_Missense_Mutation_p.V40M	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	169					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|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)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)	p.V169M(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GGAGTTTATTGTGATGGGTGG	0.333																																																1	Substitution - Missense(1)	kidney(1)											177	171	173					8																	27970578		2203	4300	6503	SO:0001583	missense	55140				CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"Chromatin-modifying enzymes / K-acetyltransferases", "Elongator acetyltransferase complex subunits"	20696	protein-coding gene	gene with protein product		612722	"elongation protein 3 homolog (S. cerevisiae)"			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.505G>A	8.37:g.27970578G>A	ENSP00000256398:p.Val169Met		B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986729	0.93106	.	.	ENSG00000134014	ENST00000521015;ENST00000521570;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	T;T;T;T;T;T	0.80994	-1.44;-1.44;1.93;-1.44;1.93;1.87	5.93	5.93	0.95920	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	M	0.92077	3.27	0.80722	D	1	D;P	0.71674	0.998;0.56	D;P	0.64687	0.928;0.489	D	0.93108	0.6514	10	0.87932	D	0	-18.5491	17.8306	0.88682	0.0:0.0:1.0:0.0	.	50;169	B4DE19;Q9H9T3	.;ELP3_HUMAN	M	155;155;169;40;97;50;77	ENSP00000428449:V155M;ENSP00000256398:V169M;ENSP00000439242:V40M;ENSP00000429180:V97M;ENSP00000445558:V50M;ENSP00000369711:V77M	ENSP00000256398:V169M	V	+	1	0	ELP3	28026497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.246000	0.72405	2.805000	0.96524	0.655000	0.94253	GTG		0.333	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		A	27970578	G	A	27970578	3	1	41	1	0	0	0	0	1	0	0	0	5083	1377	48	2	531	2	ELP3	8	27970578	Missense_Mutation	SNP	G	TCGA-A3-3311-01A-01D-0966-08	23475534	27970578	118393444	38	2929											
PLEKHA2	59339	hgsc.bcm.edu	37	8	38827186	38827186	+	Splice_Site	DEL	C	C	-	rs398007544|rs5891050		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr8:38827186delC	ENST00000420274.1	+	12	1397	c.1163delC	c.(1162-1164)gcc>gc	p.A388fs	PLEKHA2_ENST00000521746.1_Intron|CTD-2544N14.3_ENST00000520863.1_RNA|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	388					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GAGGGCAGCGCCTCCTGGGGT	0.607													C|CC|C|insertion	5008	1.0	1.0	1.0	5008	,	,		13967	1.0		1.0	False		,,,				2504	1.0															0										3621,1		1810,1,0	1	1	1			-8.5	0	8	dbSNP_126	12	7844,0		3922,0,0	no	frameshift	PLEKHA2	NM_021623.1		5732,1,0	A1A1,A1R,RR		0.0,0.0276,0.0087			38827186	11465,1	472	1163	1635	SO:0001630	splice_region_variant	59339			AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"Pleckstrin homology (PH) domain containing"	14336	protein-coding gene	gene with protein product	"tandem PH Domain containing protein-2"	607773	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000420274.1:c.1164+1C>-	8.37:g.38827186delC				Frame_Shift_Del	DEL	ENST00000420274.1	37																																																																																					0.607	PLEKHA2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021623	Frame_Shift_Del	-	38827186	C	-	38827186	8	5	41	1	0	1	0	1	0	0	1	0	12058	739	26	0	1205	0	PLEKHA2	8	38827186	Splice_Site	DEL	C	TCGA-A3-3311-01A-01D-0966-08	10856608	38827186	107536836	39	2930											
PXDNL	137902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	52359592	52359592	+	Silent	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr8:52359592C>A	ENST00000356297.4	-	12	1597	c.1497G>T	c.(1495-1497)gtG>gtT	p.V499V	PXDNL_ENST00000543296.1_Silent_p.V499V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	499	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V499V(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCTGCACAGACACCTTTTTCA	0.453																																																1	Substitution - coding silent(1)	kidney(1)											167	165	166					8																	52359592		2017	4175	6192	SO:0001819	synonymous_variant	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1497G>T	8.37:g.52359592C>A			B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	CCDS47855.1																																																																																				0.453	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52359592	C	A	52359592	2	1	41	1	0	0	0	0	0	0	0	1	12854	465	17	4		4	PXDNL	8	52359592	Silent	SNP	C	TCGA-A3-3311-01A-01D-0966-08	13532406	52359592	94004430	40	2931											
SULF1	23213	hgsc.bcm.edu;ucsc.edu	37	8	70515859	70515861	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr8:70515859_70515861delAAT	ENST00000260128.4	+	12	1932_1934	c.1215_1217delAAT	c.(1213-1218)aaaatt>aat	p.405_406KI>N	SULF1_ENST00000419716.3_In_Frame_Del_p.405_406KI>N|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_In_Frame_Del_p.405_406KI>N|SULF1_ENST00000402687.4_In_Frame_Del_p.405_406KI>N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	405					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGAAGGCCAAAATTTGGCGTGAT	0.409																																																0																																										SO:0001651	inframe_deletion	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1215_1217delAAT	8.37:g.70515859_70515861delAAT	ENSP00000260128:p.Lys405_Ile406delinsAsn		Q86YV8|Q8NCA2|Q9UPS5	In_Frame_Del	DEL	ENST00000260128.4	37	CCDS6204.1																																																																																				0.409	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		-	70515861	AAT	-	70515859	7	5	41	1	0	1	0	1	0	0	0	0	15375	11	1	0	1245	0	SULF1	8	70515859	In_Frame_Del	DEL	AAT	TCGA-A3-3311-01A-01D-0966-08	18156267	70515859	75848163	41	2932											
ZCCHC6	79670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	88938317	88938317	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr9:88938317G>A	ENST00000375963.3	-	13	2520	c.2348C>T	c.(2347-2349)tCa>tTa	p.S783L	ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S783L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S660L|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.S72L	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	783					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.S783L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AGTGCTCTCTGACTCATTATT	0.443																																																1	Substitution - Missense(1)	kidney(1)											218	202	208					9																	88938317		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2348C>T	9.37:g.88938317G>A	ENSP00000365130:p.Ser783Leu		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542992	0.45280	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.54866	0.55;0.97;0.97;0.97	4.71	2.75	0.32379	.	1.176620	0.06221	N	0.686772	T	0.36026	0.0952	N	0.08118	0	0.27749	N	0.944201	B;B	0.15930	0.015;0.008	B;B	0.13407	0.009;0.004	T	0.28776	-1.0033	10	0.48119	T	0.1	-29.2896	11.3915	0.49817	0.0:0.1361:0.7224:0.1415	.	660;783	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	L	72;660;783;783	ENSP00000277141:S72L;ENSP00000365127:S660L;ENSP00000365128:S783L;ENSP00000365130:S783L	ENSP00000277141:S72L	S	-	2	0	ZCCHC6	88128137	0.999000	0.42202	0.008000	0.14137	0.017000	0.09413	2.144000	0.42197	1.184000	0.42957	0.585000	0.79938	TCA		0.443	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		A	88938317	G	A	88938317	3	1	41	1	0	0	0	0	1	0	0	0	17597	1294	45	2	2199	2	ZCCHC6	9	88938317	Missense_Mutation	SNP	G	TCGA-A3-3311-01A-01D-0966-08		88938317	52275114	42	2933											
CERCAM	51148	broad.mit.edu	37	9	131196482	131196483	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr9:131196482_131196483GG>TT	ENST00000372838.4	+	10	1703_1704	c.1305_1306GG>TT	c.(1303-1308)gaGGca>gaTTca	p.435_436EA>DS	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Missense_Mutation_p.357_358EA>DS	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	435					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.E435_A436>DS(1)|p.E435D(1)|p.E357_A358>DS(1)|p.A436S(1)|p.A358S(1)|p.E357D(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						AGGATGTGGAGGCAGAGAAACT	0.634																																																6	Substitution - Missense(4)|Complex - compound substitution(2)	kidney(6)																																								SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	Exception_encountered	9.37:g.131196482_131196483delinsTT	ENSP00000361929:p.E435_A436delinsDS		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	CCDS6901.2																																																																																				0.634	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		TT	131196483	GG	TT	131196482	3	4	41	1	0	0	0	0	1	0	0	0	3268	991	35	4	1343	4	CERCAM	9	131196482	Missense_Mutation	DNP	GG	TCGA-A3-3311-01A-01D-0966-08	42258165	131196482	10016949	43	2934											
CARD9	64170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139266450	139266450	+	Silent	SNP	G	G	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr9:139266450G>C	ENST00000371732.5	-	2	246	c.81C>G	c.(79-81)ccC>ccG	p.P27P	CARD9_ENST00000371734.3_Silent_p.P27P|CARD9_ENST00000315908.7_Silent_p.P27P	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	27	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)	p.P27P(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGATGCGTGAGGGGTCGATGA	0.622																																																1	Substitution - coding silent(1)	kidney(1)											155	118	130					9																	139266450		2203	4300	6503	SO:0001819	synonymous_variant	64170			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.81C>G	9.37:g.139266450G>C			Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	CCDS6997.1																																																																																				0.622	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		C	139266450	G	C	139266450	2	2	41	1	0	0	0	0	0	0	0	1	2654	987	35	4		4	CARD9	9	139266450	Silent	SNP	G	TCGA-A3-3311-01A-01D-0966-08	8069968	139266450	1946981	44	2935											
CAMK1D	57118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12833177	12833177	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr10:12833177A>C	ENST00000378847.3	+	6	923	c.586A>C	c.(586-588)Aaa>Caa	p.K196Q	CAMK1D_ENST00000378845.1_Missense_Mutation_p.K196Q	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.K196Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CCTCGCCCAGAAACCTTACAG	0.493																																																2	Substitution - Missense(2)	kidney(2)											200	179	186					10																	12833177		2203	4300	6503	SO:0001583	missense	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.586A>C	10.37:g.12833177A>C	ENSP00000368124:p.Lys196Gln		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.233111	0.39498	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.65732	-0.17;-0.17	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	N	0.11845	0.185	0.80722	D	1	P;B	0.46706	0.883;0.01	P;B	0.51974	0.686;0.034	T	0.50955	-0.8766	10	0.18710	T	0.47	-20.2713	13.6903	0.62542	1.0:0.0:0.0:0.0	.	196;196	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	Q	196	ENSP00000368124:K196Q;ENSP00000368122:K196Q	ENSP00000368122:K196Q	K	+	1	0	CAMK1D	12873183	1.000000	0.71417	0.998000	0.56505	0.318000	0.28184	8.469000	0.90395	2.168000	0.68352	0.533000	0.62120	AAA		0.493	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		C	12833177	A	C	12833177	3	2	41	1	0	0	0	0	1	0	0	0	2599	247	9	5	608	5	CAMK1D	10	12833177	Missense_Mutation	SNP	A	TCGA-A3-3311-01A-01D-0966-08		12833177	122701570	45	2936											
C10orf68	79741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	33134530	33134530	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr10:33134530A>C	ENST00000375030.2	+	16	1720	c.1102A>C	c.(1102-1104)Acg>Ccg	p.T368P	C10orf68_ENST00000375028.3_Missense_Mutation_p.T413P|C10orf68_ENST00000375025.4_Missense_Mutation_p.T473P			Q9H943	CJ068_HUMAN		409								p.T409P(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GGAGTCAACCACGACACAATT	0.308																																																1	Substitution - Missense(1)	kidney(1)											83	92	89					10																	33134530		2203	4296	6499	SO:0001583	missense	79741																														ENST00000375030.2:c.1102A>C	10.37:g.33134530A>C	ENSP00000364170:p.Thr368Pro		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37		.	.	.	.	.	.	.	.	.	.	.	4.988	0.183504	0.09495	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.29917	1.57;1.56;1.55;1.55	1.69	0.529	0.17095	.	.	.	.	.	T	0.17492	0.0420	L	0.34521	1.04	0.09310	N	1	B;B;P;B	0.37015	0.118;0.104;0.578;0.104	B;B;B;B	0.32465	0.07;0.07;0.146;0.006	T	0.13764	-1.0497	9	0.39692	T	0.17	.	3.4811	0.07602	0.7796:0.0:0.2204:0.0	.	390;409;413;368	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	P	409;368;413;473;385	ENSP00000303710:T409P;ENSP00000364170:T368P;ENSP00000364168:T413P;ENSP00000364165:T473P	ENSP00000303710:T409P	T	+	1	0	C10orf68	33174536	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.200000	0.09478	0.145000	0.18977	0.379000	0.24179	ACG		0.308	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			C	33134530	A	C	33134530	3	2	41	1	0	0	0	0	1	0	0	0	1615	159	6	5	1275	5	C10orf68	10	33134530	Missense_Mutation	SNP	A	TCGA-A3-3311-01A-01D-0966-08	20301353	33134530	102400217	46	2937											
ITGB1	3688	hgsc.bcm.edu	37	10	33199253	33199258	+	In_Frame_Del	DEL	CAGGAT	CAGGAT	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	CAGGAT	CAGGAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr10:33199253_33199258delCAGGAT	ENST00000396033.2	-	14	2192_2197	c.2057_2062delATCCTG	c.(2056-2064)gatcctgtg>gtg	p.DP686del	ITGB1_ENST00000374956.4_In_Frame_Del_p.DP686del|ITGB1_ENST00000423113.1_In_Frame_Del_p.DP686del|ITGB1_ENST00000302278.3_In_Frame_Del_p.DP686del	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	686					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)	CAATGGGACACAGGATCAGGTTGGAC	0.427																																																0																																										SO:0001651	inframe_deletion	3688			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.2057_2062delATCCTG	10.37:g.33199253_33199258delCAGGAT	ENSP00000379350:p.Asp686_Pro687del		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	In_Frame_Del	DEL	ENST00000396033.2	37	CCDS7174.1																																																																																				0.427	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		-	33199258	CAGGAT	-	33199253	7	5	41	1	0	1	0	1	0	0	0	0	7892	478	17	0	584	0	ITGB1	10	33199253	In_Frame_Del	DEL	CAGGAT	TCGA-A3-3311-01A-01D-0966-08	64723	33199253	102335494	47	2938											
AMICA1	120425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118068750	118068750	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr11:118068750T>G	ENST00000356289.5	-	8	1141	c.968A>C	c.(967-969)aAa>aCa	p.K323T	AMICA1_ENST00000533261.1_Missense_Mutation_p.K312T|AMICA1_ENST00000526620.1_Missense_Mutation_p.K284T|AMICA1_ENST00000292067.7_Missense_Mutation_p.K313T	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	323					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.K313T(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGGTTTTTCTTTTATCTCTGG	0.458											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											205	184	191					11																	118068750		2199	4296	6495	SO:0001583	missense	120425			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.968A>C	11.37:g.118068750T>G	ENSP00000348635:p.Lys323Thr	1485	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	T	7.345	0.621677	0.14193	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	D;D;D;D	0.98474	-4.38;-4.39;-4.4;-4.95	3.91	2.99	0.34606	.	1.154600	0.06537	N	0.742592	D	0.94155	0.8125	N	0.14661	0.345	0.18873	N	0.999988	B;B;B;B;B	0.31290	0.213;0.063;0.213;0.213;0.318	B;B;B;B;B	0.26770	0.033;0.026;0.033;0.033;0.073	D	0.90355	0.4369	10	0.66056	D	0.02	0.145	6.9305	0.24439	0.0:0.8713:0.0:0.1287	.	323;284;323;312;313	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	T	323;313;312;284	ENSP00000348635:K323T;ENSP00000292067:K313T;ENSP00000436117:K312T;ENSP00000431218:K284T	ENSP00000292067:K313T	K	-	2	0	AMICA1	117573960	0.902000	0.30710	0.401000	0.26359	0.000000	0.00434	1.705000	0.37867	1.201000	0.43203	-0.248000	0.11899	AAA		0.458	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		G	118068750	T	G	118068750	3	3	41	1	0	0	0	0	1	0	0	0	574	1841	64	5	228	5	AMICA1	11	118068750	Missense_Mutation	SNP	T	TCGA-A3-3311-01A-01D-0966-08		118068750	16937766	48	2939											
KLRC1	3821	broad.mit.edu;hgsc.bcm.edu	37	12	10599220	10599220	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr12:10599220A>C	ENST00000359151.3	-	7	813	c.632T>G	c.(631-633)cTa>cGa	p.L211R	KLRC1_ENST00000408006.3_Missense_Mutation_p.L193R|KLRC1_ENST00000544822.1_Missense_Mutation_p.L211R|KLRC1_ENST00000347831.5_Missense_Mutation_p.L193R|KLRC1_ENST00000536188.1_Missense_Mutation_p.L211R	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	211	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.L211R(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						ATTTACTTGTAGCACTGCACA	0.348																																																1	Substitution - Missense(1)	kidney(1)											183	175	178					12																	10599220		2203	4298	6501	SO:0001583	missense	3821			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"Killer cell lectin-like receptors", "CD molecules"	6374	protein-coding gene	gene with protein product	"NKG2-1/B activating NK receptor"	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.632T>G	12.37:g.10599220A>C	ENSP00000352064:p.Leu211Arg			Missense_Mutation	SNP	ENST00000359151.3	37	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740913	0.30865	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	2.13	2.13	0.27403	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.286130	0.18938	N	0.127032	T	0.36220	0.0959	M	0.87269	2.87	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.05007	-1.0912	10	0.87932	D	0	.	6.2779	0.20991	1.0:0.0:0.0:0.0	.	193;211	P26715-2;P26715	.;NKG2A_HUMAN	R	211;211;193;193;211	ENSP00000441432:L211R;ENSP00000352064:L211R;ENSP00000385304:L193R;ENSP00000256965:L193R;ENSP00000438038:L211R	ENSP00000256965:L193R	L	-	2	0	KLRC1	10490487	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.052000	0.14163	1.241000	0.43820	0.333000	0.21579	CTA		0.348	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		C	10599220	A	C	10599220	3	2	41	1	0	0	0	0	1	0	0	0	8417	420	15	5	73	5	KLRC1	12	10599220	Missense_Mutation	SNP	A	TCGA-A3-3311-01A-01D-0966-08		10599220	123252675	49	2940											
XRCC6BP1	91419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58340855	58340855	+	Missense_Mutation	SNP	C	C	A	rs201702418		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr12:58340855C>A	ENST00000300145.3	+	3	436	c.311C>A	c.(310-312)tCt>tAt	p.S104Y		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	104					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S104Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GCTTCAACATCTCAGGTAGGC	0.388																																																1	Substitution - Missense(1)	kidney(1)											196	182	187					12																	58340855		1877	4114	5991	SO:0001583	missense	91419			AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"Ku70 binding protein 3"					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.311C>A	12.37:g.58340855C>A	ENSP00000300145:p.Ser104Tyr		Q1RLM4|Q96E81	Missense_Mutation	SNP	ENST00000300145.3	37	CCDS41802.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047894	0.75846	.	.	ENSG00000166896	ENST00000300145	T	0.47528	0.84	5.58	3.71	0.42584	Metallopeptidase, catalytic domain (1);	0.096756	0.85682	D	0.000000	T	0.63628	0.2527	M	0.78916	2.43	0.80722	D	1	D	0.53885	0.963	P	0.54629	0.757	T	0.70132	-0.4956	10	0.66056	D	0.02	-12.6712	16.1893	0.81975	0.0:0.7335:0.2664:0.0	.	104	Q9Y6H3	ATP23_HUMAN	Y	104	ENSP00000300145:S104Y	ENSP00000300145:S104Y	S	+	2	0	XRCC6BP1	56627122	1.000000	0.71417	0.971000	0.41717	0.974000	0.67602	4.759000	0.62227	0.794000	0.33899	0.655000	0.94253	TCT		0.388	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276		A	58340855	C	A	58340855	3	1	41	1	0	0	0	0	1	0	0	0	17463	913	32	4	321	4	XRCC6BP1	12	58340855	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08	47741635	58340855	75511040	50	2941											
EEA1	8411	hgsc.bcm.edu;ucsc.edu	37	12	93205170	93205170	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr12:93205170delG	ENST00000322349.8	-	17	2348	c.2084delC	c.(2083-2085)gcafs	p.A695fs		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	695	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTGTAACTTTGCAGTGACCTG	0.343																																																0													64	64	64					12																	93205170		2201	4298	6499	SO:0001589	frameshift_variant	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2084delC	12.37:g.93205170delG	ENSP00000317955:p.Ala695fs		Q14221	Frame_Shift_Del	DEL	ENST00000322349.8	37	CCDS31874.1																																																																																				0.343	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		-	93205170	G	-	93205170	7	5	41	1	0	1	0	1	0	0	0	0	4923	1319	46	0	2203	0	EEA1	12	93205170	Frame_Shift_Del	DEL	G	TCGA-A3-3311-01A-01D-0966-08	34864315	93205170	40646725	51	2942											
TPTE2	93492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	20039633	20039633	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr13:20039633C>G	ENST00000400230.2	-	8	628	c.584G>C	c.(583-585)aGa>aCa	p.R195T	TPTE2_ENST00000400103.2_Missense_Mutation_p.R84T|TPTE2_ENST00000457266.2_Missense_Mutation_p.R84T|TPTE2_ENST00000255310.6_Missense_Mutation_p.R118T|TPTE2_ENST00000382975.4_Missense_Mutation_p.R155T|TPTE2_ENST00000390680.2_Missense_Mutation_p.R118T|TPTE2_ENST00000382977.4_Missense_Mutation_p.R195T|TPTE2_ENST00000382978.1_Missense_Mutation_p.R155T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	195					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R118T(1)|p.R195T(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCAAGTTGTCTTTTTTGATG	0.328																																																2	Substitution - Missense(2)	kidney(2)											48	46	47					13																	20039633		2202	4300	6502	SO:0001583	missense	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.584G>C	13.37:g.20039633C>G	ENSP00000383089:p.Arg195Thr		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	9.434	1.086248	0.20390	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98602	-4.42;-3.58;-5.02;-4.42;-4.42;-5.02;-4.42;-3.58	2.79	0.919	0.19392	Ion transport (1);	0.166531	0.52532	U	0.000071	D	0.97595	0.9212	M	0.71581	2.175	0.37533	D	0.917991	P;D;P	0.55172	0.902;0.97;0.952	B;P;P	0.58454	0.4;0.839;0.83	D	0.95511	0.8586	9	.	.	.	-13.1627	4.0131	0.09631	0.0:0.6093:0.2457:0.1451	.	84;118;195	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	T	155;84;195;118;118;195;155;84;195;64	ENSP00000372438:R155T;ENSP00000382974:R84T;ENSP00000383089:R195T;ENSP00000255310:R118T;ENSP00000375098:R118T;ENSP00000372437:R195T;ENSP00000372435:R155T;ENSP00000442218:R84T	.	R	-	2	0	TPTE2	18937633	1.000000	0.71417	0.077000	0.20336	0.025000	0.11179	0.404000	0.20999	0.195000	0.20347	0.467000	0.42956	AGA		0.328	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20039633	C	G	20039633	3	3	41	1	0	0	0	0	1	0	0	0	16436	913	32	4	1036	4	TPTE2	13	20039633	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08		20039633	95130245	52	2943											
BRCA2	675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32915021	32915021	+	Missense_Mutation	SNP	A	A	G	rs397507865		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr13:32915021A>G	ENST00000380152.3	+	11	6762	c.6529A>G	c.(6529-6531)Att>Gtt	p.I2177V	BRCA2_ENST00000544455.1_Missense_Mutation_p.I2177V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2177					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.I2177V(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGAGAACATTCATGTTTT	0.318			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	2	Substitution - Missense(2)	kidney(2)											50	52	52					13																	32915021		2203	4298	6501	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6529A>G	13.37:g.32915021A>G	ENSP00000369497:p.Ile2177Val		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	4.097	0.016082	0.07959	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.78126	-1.15;-1.15	5.34	-3.46	0.04767	.	1.047490	0.07464	N	0.901049	T	0.69043	0.3067	M	0.73598	2.24	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.53443	-0.8438	10	0.06365	T	0.9	.	7.1749	0.25738	0.4799:0.0:0.4072:0.113	.	2177	P51587	BRCA2_HUMAN	V	2177	ENSP00000369497:I2177V;ENSP00000439902:I2177V	ENSP00000369497:I2177V	I	+	1	0	BRCA2	31813021	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-0.028000	0.12350	-0.580000	0.05944	0.482000	0.46254	ATT		0.318	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		G	32915021	A	G	32915021	3	3	41	1	0	0	0	0	1	0	0	0	1501	217	8	3	6567	3	BRCA2	13	32915021	Missense_Mutation	SNP	A	TCGA-A3-3311-01A-01D-0966-08	12875388	32915021	82254857	53	2944											
CTDSPL2	51496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	44751276	44751276	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr15:44751276A>T	ENST00000260327.4	+	2	627	c.64A>T	c.(64-66)Aga>Tga	p.R22*	CTDSPL2_ENST00000396780.1_Nonsense_Mutation_p.R22*|CTDSPL2_ENST00000558966.1_Nonsense_Mutation_p.R22*|CTDSPL2_ENST00000558373.1_Nonsense_Mutation_p.R22*	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	22							phosphoprotein phosphatase activity (GO:0004721)	p.R22*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACGCACTGCCAGAGCAAAGAG	0.403																																																1	Substitution - Nonsense(1)	kidney(1)											93	94	94					15																	44751276		2198	4298	6496	SO:0001587	stop_gained	51496			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.64A>T	15.37:g.44751276A>T	ENSP00000260327:p.Arg22*		Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Nonsense_Mutation	SNP	ENST00000260327.4	37	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	A	38	7.115831	0.98074	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	.	.	.	5.28	5.28	0.74379	.	0.156390	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5297	11.3128	0.49375	0.7185:0.2815:0.0:0.0	.	.	.	.	X	22	.	ENSP00000260327:R22X	R	+	1	2	CTDSPL2	42538568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.771000	0.47670	1.994000	0.58287	0.528000	0.53228	AGA		0.403	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		T	44751276	A	T	44751276	4	4	41	1	0	0	0	0	0	1	0	0	4008	180	7	5	66	5	CTDSPL2	15	44751276	Nonsense_Mutation	SNP	A	TCGA-A3-3311-01A-01D-0966-08		44751276	57780116	54	2945											
SPG11	80208	hgsc.bcm.edu	37	15	44858098	44858099	+	Frame_Shift_Ins	INS	-	-	G	rs373233936|rs377341108		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr15:44858098_44858099insG	ENST00000261866.7	-	38	6968_6969	c.6952_6953insC	c.(6952-6954)cgcfs	p.R2318fs	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Frame_Shift_Ins_p.R2205fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2318					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAGCTTGTGGCGGCCCAAGTTG	0.525																																																0									,	45,4219		0,45,2087					,	1.3	0.9			44	74,8180		0,74,4053	no	frameshift,frameshift	SPG11	NM_025137.3,NM_001160227.1	,	0,119,6140	A1A1,A1R,RR		0.8965,1.0553,0.9506	,	,		119,12399				SO:0001589	frameshift_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6953dupC	15.37:g.44858100_44858100dupG	ENSP00000261866:p.Arg2318fs		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Frame_Shift_Ins	INS	ENST00000261866.7	37	CCDS10112.1																																																																																				0.525	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			G	44858099	-	G	44858098	7	5	41	1	0	1	1	0	0	0	0	0	15046	768	27	0	390	0	SPG11	15	44858098	Frame_Shift_Ins	INS	-	TCGA-A3-3311-01A-01D-0966-08	106822	44858098	57673294	55	2946											
FANCI	55215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89837084	89837084	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr15:89837084T>C	ENST00000310775.7	+	23	2398	c.2312T>C	c.(2311-2313)aTt>aCt	p.I771T	FANCI_ENST00000300027.8_Missense_Mutation_p.I771T	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	771					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.I771T(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTTGAGGACATTCTGAGCTTA	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							2	Substitution - Missense(2)	kidney(2)											94	96	95					15																	89837084		2199	4299	6498	SO:0001583	missense	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2312T>C	15.37:g.89837084T>C	ENSP00000310842:p.Ile771Thr		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502231	0.44455	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.42131	0.98;0.98;0.98	5.72	5.72	0.89469	.	0.468946	0.23780	N	0.044637	T	0.46034	0.1372	L	0.57536	1.79	0.80722	D	1	B;P;P	0.35684	0.374;0.515;0.515	B;B;B	0.38842	0.283;0.22;0.22	T	0.48445	-0.9035	10	0.66056	D	0.02	-1.977	15.9998	0.80285	0.0:0.0:0.0:1.0	.	771;771;771	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	T	771	ENSP00000300027:I771T;ENSP00000310842:I771T;ENSP00000413249:I771T	ENSP00000300027:I771T	I	+	2	0	FANCI	87638088	0.977000	0.34250	0.493000	0.27502	0.437000	0.31866	7.436000	0.80404	2.189000	0.69895	0.533000	0.62120	ATT		0.318	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		C	89837084	T	C	89837084	3	2	41	1	0	0	0	0	1	0	0	0	5671	1493	52	3	2398	3	FANCI	15	89837084	Missense_Mutation	SNP	T	TCGA-A3-3311-01A-01D-0966-08	44978986	89837084	12694308	56	2947											
FBXL16	146330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	745593	745593	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr16:745593G>C	ENST00000397621.1	-	3	1295	c.964C>G	c.(964-966)Ctc>Gtc	p.L322V	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000324361.5_Missense_Mutation_p.L322V|FBXL16_ENST00000562563.1_Missense_Mutation_p.L110V	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	322								p.L322V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				AGCGCGGTGAGGTTGGGCAGG	0.687																																																1	Substitution - Missense(1)	kidney(1)											42	38	39					16																	745593		2197	4295	6492	SO:0001583	missense	146330			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.964C>G	16.37:g.745593G>C	ENSP00000380746:p.Leu322Val		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	ENST00000397621.1	37	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	g	18.47	3.630535	0.67015	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.64085	-0.08;-0.08	4.56	4.56	0.56223	.	0.139354	0.49916	D	0.000128	D	0.83968	0.5369	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88468	0.3060	10	0.72032	D	0.01	.	16.0528	0.80775	0.0:0.0:1.0:0.0	.	322	Q8N461	FXL16_HUMAN	V	322	ENSP00000380746:L322V;ENSP00000318674:L322V	ENSP00000318674:L322V	L	-	1	0	FBXL16	685594	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.522000	0.98032	2.365000	0.80145	0.561000	0.74099	CTC		0.687	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		C	745593	G	C	745593	3	2	41	1	0	0	0	0	1	0	0	0	5714	1000	35	4	491	4	FBXL16	16	745593	Missense_Mutation	SNP	G	TCGA-A3-3311-01A-01D-0966-08		745593	89609160	57	2948											
WSCD1	23302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	6021491	6021491	+	Missense_Mutation	SNP	G	G	A	rs112285134		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr17:6021491G>A	ENST00000574946.1	+	8	1748	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	WSCD1_ENST00000573634.1_Missense_Mutation_p.R337H|WSCD1_ENST00000574232.1_Missense_Mutation_p.R453H|WSCD1_ENST00000317744.5_Missense_Mutation_p.R453H|WSCD1_ENST00000539421.1_Missense_Mutation_p.R453H			Q658N2	WSCD1_HUMAN	WSC domain containing 1	453						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.R453H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCAGCTGACCGCAACTGGAAG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20077	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											36	37	37					17																	6021491		2203	4300	6503	SO:0001583	missense	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1358G>A	17.37:g.6021491G>A	ENSP00000460825:p.Arg453His		A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	CCDS32538.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.54	1.969039	0.34754	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.82255	-1.59;-1.59	5.47	2.38	0.29361	Sulfotransferase domain (1);	0.428098	0.23874	N	0.043712	T	0.72326	0.3446	L	0.36672	1.1	0.35135	D	0.768348	B	0.17465	0.022	B	0.12837	0.008	T	0.69884	-0.5024	10	0.44086	T	0.13	-25.328	7.7078	0.28661	0.3349:0.0:0.6651:0.0	.	453	Q658N2	WSCD1_HUMAN	H	453	ENSP00000323087:R453H;ENSP00000446032:R453H	ENSP00000323087:R453H	R	+	2	0	WSCD1	5962215	0.166000	0.22962	0.999000	0.59377	0.788000	0.44548	1.490000	0.35573	0.693000	0.31634	0.655000	0.94253	CGC		0.517	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		A	6021491	G	A	6021491	3	1	41	1	0	0	0	0	1	0	0	0	17411	1087	38	1	1384	1	WSCD1	17	6021491	Missense_Mutation	SNP	G	TCGA-A3-3311-01A-01D-0966-08		6021491	75173719	58	2949											
ERAL1	26284	hgsc.bcm.edu	37	17	27182058	27182059	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr17:27182058_27182059insG	ENST00000254928.5	+	1	103_104	c.6_7insG	c.(7-9)gccfs	p.A3fs	FAM222B_ENST00000583953.1_5'Flank|ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	3					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTGTAATGGCTGCCCCCAGCTG	0.614																																																0																																										SO:0001589	frameshift_variant	26284			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.7dupG	17.37:g.27182059_27182059dupG	ENSP00000254928:p.Ala3fs		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Frame_Shift_Ins	INS	ENST00000254928.5	37	CCDS11244.1																																																																																				0.614	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			G	27182059	-	G	27182058	7	5	41	1	0	1	1	0	0	0	0	0	5204	1567	55	0	8	0	ERAL1	17	27182058	Frame_Shift_Ins	INS	-	TCGA-A3-3311-01A-01D-0966-08	21160567	27182058	54013152	59	2950											
AZI1	22994	hgsc.bcm.edu;ucsc.edu	37	17	79168674	79168677	+	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	GACA	GACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr17:79168674_79168677delGACA	ENST00000269392.4	-	17	2368_2371	c.2121_2124delTGTC	c.(2119-2124)actgtcfs	p.TV707fs	AZI1_ENST00000374782.3_Frame_Shift_Del_p.TV704fs|AZI1_ENST00000575907.1_Frame_Shift_Del_p.TV707fs|AZI1_ENST00000450824.2_Frame_Shift_Del_p.TV704fs|RP11-455O6.2_ENST00000571085.1_RNA	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		707					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCCACCTCGGACAGTGACCTCCT	0.544																																																0																																										SO:0001589	frameshift_variant	22994																														ENST00000269392.4:c.2121_2124delTGTC	17.37:g.79168674_79168677delGACA	ENSP00000269392:p.Thr707fs		A6NHI8|B2RN11|Q96F50	Frame_Shift_Del	DEL	ENST00000269392.4	37																																																																																					0.544	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			-	79168677	GACA	-	79168674	7	5	41	1	0	1	0	1	0	0	0	0	1240	1161	41	0	1167	0	AZI1	17	79168674	Frame_Shift_Del	DEL	GACA	TCGA-A3-3311-01A-01D-0966-08	51986616	79168674	2026536	60	2951											
ATP5A1	498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	43666148	43666148	+	Missense_Mutation	SNP	C	C	T	rs374742618		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr18:43666148C>T	ENST00000398752.6	-	10	1481	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	ATP5A1_ENST00000282050.2_Missense_Mutation_p.D454N|ATP5A1_ENST00000590665.1_Missense_Mutation_p.D432N|ATP5A1_ENST00000593152.2_Missense_Mutation_p.D404N	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	454					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.D454N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GTGGCAGCATCGAGGTCAGAA	0.463																																																1	Substitution - Missense(1)	kidney(1)											88	79	82					18																	43666148		2203	4300	6503	SO:0001583	missense	498			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	823	protein-coding gene	gene with protein product		164360	"ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1360G>A	18.37:g.43666148C>T	ENSP00000381736:p.Asp454Asn		A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547566	0.96488	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	T;T	0.78481	-1.18;-1.18	4.93	4.93	0.64822	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96881	0.9646	10	0.87932	D	0	-22.9604	18.2285	0.89926	0.0:1.0:0.0:0.0	.	454	P25705	ATPA_HUMAN	N	454;454;404	ENSP00000282050:D454N;ENSP00000381736:D454N	ENSP00000282050:D454N	D	-	1	0	ATP5A1	41920146	1.000000	0.71417	0.909000	0.35828	0.986000	0.74619	7.421000	0.80204	2.304000	0.77564	0.650000	0.86243	GAT		0.463	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		T	43666148	C	T	43666148	3	4	41	1	0	0	0	0	1	0	0	0	1147	884	31	1	313	1	ATP5A1	18	43666148	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08		43666148	34411100	61	2952											
PGLYRP2	114770	broad.mit.edu;hgsc.bcm.edu	37	19	15587107	15587107	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr19:15587107A>T	ENST00000340880.4	-	2	854	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.L125Q	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	125					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.L125Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGCCCCGCCAGCAGAGGCTC	0.612																																																2	Substitution - Missense(2)	kidney(2)											105	89	95					19																	15587107		2203	4300	6503	SO:0001583	missense	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.374T>A	19.37:g.15587107A>T	ENSP00000345968:p.Leu125Gln		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630645	0.67015	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.16457	2.42;2.34	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000025	T	0.43787	0.1263	M	0.83012	2.62	0.37261	D	0.906991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.55945	-0.8060	10	0.87932	D	0	-13.472	11.4109	0.49925	1.0:0.0:0.0:0.0	.	125;125	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Q	125	ENSP00000345968:L125Q;ENSP00000292609:L125Q	ENSP00000292609:L125Q	L	-	2	0	PGLYRP2	15448107	0.865000	0.29922	0.807000	0.32361	0.490000	0.33462	7.008000	0.76341	1.967000	0.57214	0.460000	0.39030	CTG		0.612	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		T	15587107	A	T	15587107	3	4	41	1	0	0	0	0	1	0	0	0	11796	188	7	5	1372	5	PGLYRP2	19	15587107	Missense_Mutation	SNP	A	TCGA-A3-3311-01A-01D-0966-08		15587107	43541876	62	2953											
ZNF493	284443	broad.mit.edu;hgsc.bcm.edu	37	19	21607620	21607620	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr19:21607620A>G	ENST00000355504.4	+	2	2041	c.1775A>G	c.(1774-1776)aAa>aGa	p.K592R	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.K720R	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K720R(1)|p.K592R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAATGTGGCAAAGCTTTTAAC	0.368																																																2	Substitution - Missense(2)	kidney(2)											35	37	36					19																	21607620		2202	4299	6501	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1775A>G	19.37:g.21607620A>G	ENSP00000347691:p.Lys592Arg		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	14.29	2.489892	0.44249	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.26223	1.75;1.75	1.02	-0.155	0.13395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17916	0.0430	N	0.20530	0.585	0.80722	D	1	P;P	0.42973	0.796;0.544	P;B	0.46479	0.518;0.066	T	0.10132	-1.0643	9	0.72032	D	0.01	.	5.1043	0.14775	0.7828:0.0:0.2172:0.0	.	592;720	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	R	720;592	ENSP00000376110:K720R;ENSP00000347691:K592R	ENSP00000347691:K592R	K	+	2	0	ZNF493	21399460	0.100000	0.21855	0.284000	0.24805	0.283000	0.27025	1.824000	0.39072	0.378000	0.24764	0.372000	0.22366	AAA		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		G	21607620	A	G	21607620	3	3	41	1	0	0	0	0	1	0	0	0	17949	14	1	3	2236	3	ZNF493	19	21607620	Missense_Mutation	SNP	A	TCGA-A3-3311-01A-01D-0966-08	6020513	21607620	37521363	63	2954											
RPS21	6227	hgsc.bcm.edu	37	20	60962917	60962918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr20:60962917_60962918insG	ENST00000343986.4	+	4	172_173	c.133_134insG	c.(133-135)aggfs	p.R45fs	RPS21_ENST00000370562.1_3'UTR|RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000450116.2_Frame_Shift_Ins_p.R45fs	NM_001024.3	NP_001015.1	P63220	RS21_HUMAN	ribosomal protein S21	45					cellular protein metabolic process (GO:0044267)|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 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000461)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|structural constituent of ribosome (GO:0003735)			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGTCACAGGCAGGTTTAATGGC	0.505																																																0																																										SO:0001589	frameshift_variant	6227			L04483	CCDS13497.1	20q13.3	2011-04-05			ENSG00000171858	ENSG00000171858		"S ribosomal proteins"	10409	protein-coding gene	gene with protein product	"8.2 kDa differentiation factor"	180477				8332502, 9582194	Standard	NM_001024		Approved	S21	uc002ycr.3	P63220	OTTHUMG00000032915	ENST00000343986.4:c.135dupG	20.37:g.60962919_60962919dupG	ENSP00000345957:p.Arg45fs		P35265	Frame_Shift_Ins	INS	ENST00000343986.4	37	CCDS13497.1																																																																																				0.505	RPS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080031.2	NM_001024		G	60962918	-	G	60962917	7	5	41	1	0	1	1	0	0	0	0	0	13639	179	7	0	143	0	RPS21	20	60962917	Frame_Shift_Ins	INS	-	TCGA-A3-3311-01A-01D-0966-08		60962917	2062603	64	2955											
TLR7	51284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	12906241	12906241	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chrX:12906241C>T	ENST00000380659.3	+	3	2753	c.2614C>T	c.(2614-2616)Cat>Tat	p.H872Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	872					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.H872Y(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GTATATTTACCATTTCTGTAA	0.403																																																1	Substitution - Missense(1)	kidney(1)											200	180	187					X																	12906241		2203	4300	6503	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2614C>T	X.37:g.12906241C>T	ENSP00000370034:p.His872Tyr		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291255	0.23564	.	.	ENSG00000196664	ENST00000380659	T	0.33438	1.41	5.62	3.75	0.43078	.	0.117336	0.56097	N	0.000024	T	0.28764	0.0713	L	0.54323	1.7	0.45762	D	0.998659	B	0.14805	0.011	B	0.21151	0.033	T	0.04333	-1.0959	10	0.42905	T	0.14	.	9.7502	0.40470	0.0:0.8184:0.0:0.1816	.	872	Q9NYK1	TLR7_HUMAN	Y	872	ENSP00000370034:H872Y	ENSP00000370034:H872Y	H	+	1	0	TLR7	12816162	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.936000	0.63506	0.467000	0.27218	0.529000	0.55759	CAT		0.403	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		T	12906241	C	T	12906241	3	4	41	1	0	0	0	0	1	0	0	0	15961	594	21	2	2620	2	TLR7	23	12906241	Missense_Mutation	SNP	C	TCGA-A3-3311-01A-01D-0966-08		12906241	142364319	65	2956											
IKBKG	2539	broad.mit.edu	37	X	153770607	153770607	+	Intron	SNP	G	G	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chrX:153770607G>T	ENST00000393564.2	-	2	233				G6PD_ENST00000393562.2_Intron|G6PD_ENST00000369620.2_Intron|IKBKG_ENST00000369607.1_Intron|G6PD_ENST00000497281.1_Intron|IKBKG_ENST00000369609.5_Silent_p.G43G	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase						carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.G43G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCAGGTGGGGAAAGATGCT	0.572																																																1	Substitution - coding silent(1)	kidney(1)											62	52	55					X																	153770607		1568	3582	5150	SO:0001627	intron_variant	8517			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.120+3643C>A	X.37:g.153770607G>T			D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	CCDS44023.1																																																																																				0.572	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		T	153770607	G	T	153770607	1	4	41	0	1	0	0	0	0	0	0	0	7615	1219	43	4		4	IKBKG	23	153770607	Intron	SNP	G	TCGA-A3-3311-01A-01D-0966-08	140864366	153770607	1499953	66	2957											
UTP11L	51118	broad.mit.edu	37	1	38484984	38484984	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:38484984T>A	ENST00000373014.4	+	6	557	c.496T>A	c.(496-498)Ttt>Att	p.F166I	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	166					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGACAGAGTCTTTAATAGGCC	0.423																																																0													107	112	110					1																	38484984		2203	4300	6503	SO:0001583	missense	51118			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.496T>A	1.37:g.38484984T>A	ENSP00000362105:p.Phe166Ile		A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	CCDS429.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.596613	0.66332	.	.	ENSG00000183520	ENST00000373014	.	.	.	5.8	5.8	0.92144	.	0.155260	0.64402	D	0.000013	T	0.57814	0.2079	L	0.49455	1.56	0.80722	D	1	B	0.27316	0.175	B	0.28465	0.09	T	0.53767	-0.8392	9	0.22706	T	0.39	-19.0294	16.1435	0.81544	0.0:0.0:0.0:1.0	.	166	Q9Y3A2	UTP11_HUMAN	I	166	.	ENSP00000362105:F166I	F	+	1	0	UTP11L	38257571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.887000	0.75616	2.212000	0.71576	0.528000	0.53228	TTT		0.423	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		A	38484984	T	A	38484984	3	1	42	1	0	0	0	0	1	0	0	0	17099	1609	56	5	518	5	UTP11L	1	38484984	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08		38484984	210765637	1	2958											
USP24	23358	broad.mit.edu	37	1	55551626	55551626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:55551626delA	ENST00000294383.6	-	56	6753	c.6754delT	c.(6754-6756)tatfs	p.Y2252fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.Y2092fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2252					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTATCCTGATAAAACAAGGCA	0.378																																																0													130	120	123					1																	55551626		1847	4103	5950	SO:0001589	frameshift_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6754delT	1.37:g.55551626delA	ENSP00000294383:p.Tyr2252fs		Q6ZSY2|Q8N2Y4|Q9NXD1	Frame_Shift_Del	DEL	ENST00000294383.6	37	CCDS44154.2																																																																																				0.378	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			-	55551626	A	-	55551626	7	5	42	1	0	1	0	1	0	0	0	0	17060	362	13	0	1160	0	USP24	1	55551626	Frame_Shift_Del	DEL	A	TCGA-A3-3313-01A-01D-0966-08	17066642	55551626	193698995	2	2959											
C8A	731	broad.mit.edu	37	1	57351601	57351601	+	Splice_Site	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:57351601A>C	ENST00000361249.3	+	7	953	c.857A>C	c.(856-858)aAa>aCa	p.K286T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	286	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCTGGCAGAAATTCATTTTC	0.393																																																0													54	54	54					1																	57351601		2203	4300	6503	SO:0001630	splice_region_variant	731			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.856-1A>C	1.37:g.57351601A>C			A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	ENST00000361249.3	37	CCDS606.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403810	0.25291	.	.	ENSG00000157131	ENST00000361249	D	0.85411	-1.98	5.95	2.26	0.28386	Membrane attack complex component/perforin (MACPF) domain (2);	0.487586	0.26887	N	0.021993	D	0.83769	0.5326	M	0.77103	2.36	0.22050	N	0.999399	P	0.39424	0.673	B	0.39706	0.307	T	0.74028	-0.3796	10	0.39692	T	0.17	-9.6949	10.4056	0.44254	0.8179:0.0:0.1821:0.0	.	286	P07357	CO8A_HUMAN	T	286	ENSP00000354458:K286T	ENSP00000354458:K286T	K	+	2	0	C8A	57124189	0.741000	0.28217	0.992000	0.48379	0.095000	0.18619	1.988000	0.40697	0.483000	0.27608	0.460000	0.39030	AAA		0.393	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	Missense_Mutation	C	57351601	A	C	57351601	5	2	42	1	0	0	0	0	0	0	1	0	2418	28	1	5	883	5	C8A	1	57351601	Splice_Site	SNP	A	TCGA-A3-3313-01A-01D-0966-08	1799975	57351601	191899020	3	2960											
IQGAP3	128239	broad.mit.edu	37	1	156509711	156509711	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156509711G>C	ENST00000361170.2	-	24	2821	c.2811C>G	c.(2809-2811)gaC>gaG	p.D937E	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	937					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTCTGCTTGTCCAGAACCA	0.498																																																0													192	175	181					1																	156509711		2203	4300	6503	SO:0001583	missense	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2811C>G	1.37:g.156509711G>C	ENSP00000354451:p.Asp937Glu		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187233	0.38609	.	.	ENSG00000183856	ENST00000361170	T	0.02472	4.28	4.83	2.96	0.34315	.	0.056365	0.64402	D	0.000001	T	0.02418	0.0074	N	0.25647	0.755	0.38982	D	0.958972	D	0.64830	0.994	D	0.72625	0.978	T	0.59408	-0.7460	10	0.32370	T	0.25	-27.326	6.716	0.23304	0.2858:0.0:0.7142:0.0	.	937	Q86VI3	IQGA3_HUMAN	E	937	ENSP00000354451:D937E	ENSP00000354451:D937E	D	-	3	2	IQGAP3	154776335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.730000	0.55006	0.628000	0.30357	0.551000	0.68910	GAC		0.498	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		C	156509711	G	C	156509711	3	2	42	1	0	0	0	0	1	0	0	0	7818	1368	48	4	2144	4	IQGAP3	1	156509711	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	99158110	156509711	92740910	4	2961											
SH2D2A	9047	broad.mit.edu	37	1	156779265	156779265	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156779265C>G	ENST00000368199.3	-	7	885	c.732G>C	c.(730-732)agG>agC	p.R244S	SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S|SH2D2A_ENST00000392306.2_Missense_Mutation_p.R254S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	244	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCTTGGGCCTGAGCAGCT	0.657																																																0													46	53	51					1																	156779265		2203	4300	6503	SO:0001583	missense	9047			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.732G>C	1.37:g.156779265C>G	ENSP00000357182:p.Arg244Ser		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656080	0.47467	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.62364	0.07;0.03;0.51	3.92	2.64	0.31445	.	1.165750	0.06025	N	0.652101	T	0.49626	0.1568	L	0.32530	0.975	0.25562	N	0.986985	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.67382	0.951;0.895;0.895	T	0.36286	-0.9754	10	0.30854	T	0.27	-14.9673	5.4464	0.16537	0.0:0.6663:0.0:0.3337	.	254;226;244	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	S	244;226;254	ENSP00000357182:R244S;ENSP00000357181:R226S;ENSP00000376123:R254S	ENSP00000357181:R226S	R	-	3	2	SH2D2A	155045889	0.935000	0.31712	0.998000	0.56505	0.529000	0.34654	-0.017000	0.12590	0.642000	0.30620	0.555000	0.69702	AGG		0.657	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		G	156779265	C	G	156779265	3	3	42	1	0	0	0	0	1	0	0	0	14238	738	26	4	445	4	SH2D2A	1	156779265	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	269554	156779265	92471356	5	2962											
TNNT2	7139	broad.mit.edu	37	1	201335996	201335996	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:201335996C>A	ENST00000509001.1	-	7	459	c.173G>T	c.(172-174)gGc>gTc	p.G58V	TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V|TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	68					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCCATTGGGCCATCTGGAGG	0.597																																																0													89	85	86					1																	201335996		2203	4300	6503	SO:0001583	missense	7139			X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.173G>T	1.37:g.201335996C>A	ENSP00000422031:p.Gly58Val		A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	37	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448174	0.63178	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165;ENST00000412633	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99445	-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91;-5.91	4.67	3.74	0.42951	.	0.488362	0.20948	N	0.082811	D	0.98030	0.9351	N	0.24115	0.695	0.80722	D	1	P;D;P;P;D	0.58268	0.906;0.982;0.94;0.94;0.964	B;P;B;B;P	0.54140	0.346;0.743;0.331;0.331;0.531	D	0.95982	0.8978	10	0.31617	T	0.26	-22.1946	8.0539	0.30593	0.0:0.8891:0.0:0.1109	.	53;67;68;58;68	E7EPW4;P45379-3;P45379;Q9BUF6;P45379-10	.;.;TNNT2_HUMAN;.;.	V	58;58;70;60;63;58;58;53;54;67;58;53;68;63;57	ENSP00000356291:G58V;ENSP00000356287:G58V;ENSP00000387874:G70V;ENSP00000404134:G60V;ENSP00000236918:G63V;ENSP00000356286:G58V;ENSP00000356284:G58V;ENSP00000353535:G53V;ENSP00000356289:G67V;ENSP00000422031:G58V;ENSP00000414036:G53V;ENSP00000402238:G68V;ENSP00000395163:G63V;ENSP00000408731:G57V	ENSP00000236918:G63V	G	-	2	0	TNNT2	199602619	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	1.326000	0.33735	2.296000	0.77279	0.561000	0.74099	GGC		0.597	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		A	201335996	C	A	201335996	3	1	42	1	0	0	0	0	1	0	0	0	16336	739	26	4	736	4	TNNT2	1	201335996	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	44556731	201335996	47914625	6	2963											
SRGAP2	23380	broad.mit.edu	37	1	206566922	206566922	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:206566922G>T	ENST00000414007.1	+	3	303	c.303G>T	c.(301-303)gaG>gaT	p.E101D	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	241	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGTACACGGAGAATAAGCTGA	0.423																																																0													107	90	96					1																	206566922		1929	4148	6077	SO:0001583	missense	23380			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.303G>T	1.37:g.206566922G>T	ENSP00000390898:p.Glu101Asp			Missense_Mutation	SNP	ENST00000414007.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.09|18.09	3.545526|3.545526	0.65198|0.65198	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000414359;ENST00000414007|ENST00000295713	T|.	0.15603|.	2.41|.	5.59|5.59	3.69|3.69	0.42338|0.42338	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.58380|.	0.2118|.	.|.	.|.	.|.	0.30974|.	N|.	0.7227589999999999|.	D;B;D|.	0.69078|.	0.997;0.328;0.972|.	D;P;P|.	0.72625|.	0.978;0.542;0.867|.	T|.	0.69510|.	-0.5126|.	8|.	0.41790|0.66056	T|D	0.15|0.02	.|.	9.2562|9.2562	0.37584|0.37584	0.3376:0.0:0.6624:0.0|0.3376:0.0:0.6624:0.0	.|.	88;241;241|.	B4DDU0;O75044;B7Z3G4|.	.;FNBP2_HUMAN;.|.	D|X	155;101|155	ENSP00000390898:E101D|.	ENSP00000390898:E101D|ENSP00000295713:E155X	E|E	+|+	3|1	2|0	SRGAP2|SRGAP2	204633545|204633545	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	3.259000|3.259000	0.51515|0.51515	0.694000|0.694000	0.31654|0.31654	0.555000|0.555000	0.69702|0.69702	GAG|GAA		0.423	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		T	206566922	G	T	206566922	3	4	42	1	0	0	0	0	1	0	0	0	15151	933	33	4	477	4	SRGAP2	1	206566922	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	5230926	206566922	42683699	7	2964											
ANGEL2	90806	broad.mit.edu	37	1	213178426	213178426	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:213178426A>G	ENST00000366962.3	-	5	1237	c.1083T>C	c.(1081-1083)taT>taC	p.Y361Y	ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000540642.1_Silent_p.Y235Y|ANGEL2_ENST00000535388.1_Silent_p.Y192Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	361										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTATGAAACTATATAGTGGAG	0.408																																																0													69	69	69					1																	213178426		2203	4300	6503	SO:0001819	synonymous_variant	90806			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1083T>C	1.37:g.213178426A>G			B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	CCDS1512.1																																																																																				0.408	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		G	213178426	A	G	213178426	2	3	42	1	0	0	0	0	0	0	0	1	609	456	16	3		3	ANGEL2	1	213178426	Silent	SNP	A	TCGA-A3-3313-01A-01D-0966-08	6611504	213178426	36072195	8	2965											
TSNAX	7257	broad.mit.edu	37	1	231700333	231700333	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:231700333C>A	ENST00000366639.4	+	6	713	c.555C>A	c.(553-555)gtC>gtA	p.V185V	TSNAX-DISC1_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	185	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TCACACCTGTCGATTACCTTC	0.458																																																0													213	210	211					1																	231700333		2203	4300	6503	SO:0001819	synonymous_variant	7257			X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.555C>A	1.37:g.231700333C>A			B1APC6	Silent	SNP	ENST00000366639.4	37	CCDS1596.1																																																																																				0.458	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999		A	231700333	C	A	231700333	2	1	42	1	0	0	0	0	0	0	0	1	16636	871	31	4		4	TSNAX	1	231700333	Silent	SNP	C	TCGA-A3-3313-01A-01D-0966-08	18521907	231700333	17550288	9	2966											
HNRNPU	3192	broad.mit.edu	37	1	245022119	245022119	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:245022119T>C	ENST00000283179.9	-	6	1305	c.1142A>G	c.(1141-1143)tAt>tGt	p.Y381C	HNRNPU_ENST00000444376.2_Missense_Mutation_p.Y362C			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTTAGAGAATACCCATAAGA	0.289																																					NSCLC(33;911 1010 3329 23631 49995)											0													94	91	92					1																	245022119		2201	4297	6498	SO:0001583	missense	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1142A>G	1.37:g.245022119T>C	ENSP00000283179:p.Tyr381Cys		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187252	0.78789	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T;T	0.76709	-1.04;-1.04;-1.04	5.79	5.79	0.91817	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.997;0.999;0.979	D	0.94362	0.7588	10	0.87932	D	0	-10.4673	16.1169	0.81309	0.0:0.0:0.0:1.0	.	306;362;381;105	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	C	362;381;306;158	ENSP00000393151:Y362C;ENSP00000283179:Y381C;ENSP00000410728:Y158C	ENSP00000283179:Y381C	Y	-	2	0	HNRNPU	243088742	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	6.174000	0.71943	2.205000	0.71048	0.482000	0.46254	TAT		0.289	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		C	245022119	T	C	245022119	3	2	42	1	0	0	0	0	1	0	0	0	7275	1406	49	3	1371	3	HNRNPU	1	245022119	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	13321786	245022119	4228502	10	2967											
PDIA6	10130	broad.mit.edu	37	2	10927548	10927548	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:10927548G>T	ENST00000272227.3	-	11	1163	c.1016C>A	c.(1015-1017)gCt>gAt	p.A339D	PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D|PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D|PDIA6_ENST00000404371.2_Missense_Mutation_p.A391D	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	339					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTGGGCTCCAGCTTCTGTCCA	0.468																																					GBM(73;509 1219 34219 41343 41551)											0													70	73	72					2																	10927548		2203	4300	6503	SO:0001583	missense	10130			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1016C>A	2.37:g.10927548G>T	ENSP00000272227:p.Ala339Asp		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174040	0.94807	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.77	5.77	0.91146	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.999	D;D;D;D	0.83275	0.974;0.991;0.991;0.996	T	0.57894	-0.7732	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	336;387;391;339	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	D	339;391;387;336;344	ENSP00000272227:A339D;ENSP00000385385:A391D;ENSP00000384459:A387D;ENSP00000438778:A336D;ENSP00000371024:A344D	ENSP00000272227:A339D	A	-	2	0	PDIA6	10844999	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	7.858000	0.86971	2.885000	0.99019	0.655000	0.94253	GCT		0.468	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		T	10927548	G	T	10927548	3	4	42	1	0	0	0	0	1	0	0	0	11674	971	34	4	318	4	PDIA6	2	10927548	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08		10927548	232271825	11	2968											
SH2D6	284948	broad.mit.edu	37	2	85662808	85662808	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:85662808G>A	ENST00000340326.2	+	3	433	c.272G>A	c.(271-273)cGc>cAc	p.R91H	SH2D6_ENST00000389938.2_Missense_Mutation_p.R59H|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	91	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						TATACCGTGCGCCCCAGCTCA	0.652																																																0													39	43	42					2																	85662808		2203	4300	6503	SO:0001583	missense	284948			AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"SH2 domain containing"	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.272G>A	2.37:g.85662808G>A	ENSP00000341867:p.Arg91His		A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686379	0.88639	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	D;D	0.99292	-5.7;-5.7	4.87	4.87	0.63330	SH2 motif (4);	0.000000	0.64402	D	0.000006	D	0.99560	0.9842	H	0.95437	3.67	0.50467	D	0.999874	D	0.89917	1.0	D	0.91635	0.999	D	0.97981	1.0349	10	0.87932	D	0	-34.5067	13.5201	0.61563	0.0:0.0:1.0:0.0	.	91	Q7Z4S9	SH2D6_HUMAN	H	59;91	ENSP00000374588:R59H;ENSP00000341867:R91H	ENSP00000341867:R91H	R	+	2	0	SH2D6	85516319	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.340000	0.72973	2.256000	0.74724	0.462000	0.41574	CGC		0.652	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		A	85662808	G	A	85662808	3	1	42	1	0	0	0	0	1	0	0	0	14244	1087	38	1	282	1	SH2D6	2	85662808	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	74735260	85662808	157536565	12	2969											
CHST10	9486	broad.mit.edu	37	2	101009797	101009797	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:101009797G>C	ENST00000264249.3	-	7	1366	c.981C>G	c.(979-981)atC>atG	p.I327M	CHST10_ENST00000409701.1_Missense_Mutation_p.I327M|CHST10_ENST00000542617.1_Missense_Mutation_p.I375M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	327					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTCGTTTGCTGATGCCCAGGA	0.488																																																0													149	135	140					2																	101009797		2203	4300	6503	SO:0001583	missense	9486			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.981C>G	2.37:g.101009797G>C	ENSP00000264249:p.Ile327Met		Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453035	0.63290	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.75938	2.02;-0.98;2.02	5.91	2.91	0.33838	.	0.237597	0.49916	D	0.000133	T	0.74512	0.3726	M	0.63843	1.955	0.52099	D	0.999947	P	0.42518	0.782	P	0.51742	0.678	T	0.72137	-0.4381	10	0.54805	T	0.06	-15.0746	3.0047	0.06025	0.1557:0.0909:0.4562:0.2972	.	327	O43529	CHSTA_HUMAN	M	327;375;327	ENSP00000264249:I327M;ENSP00000438869:I375M;ENSP00000387309:I327M	ENSP00000264249:I327M	I	-	3	3	CHST10	100376229	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.358000	0.34102	0.804000	0.34136	-0.140000	0.14226	ATC		0.488	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		C	101009797	G	C	101009797	3	2	42	1	0	0	0	0	1	0	0	0	3400	1280	45	4	93	4	CHST10	2	101009797	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	15346989	101009797	142189576	13	2970											
DAPL1	92196	broad.mit.edu	37	2	159672329	159672329	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:159672329G>T	ENST00000309950.3	+	4	376	c.320G>T	c.(319-321)tGt>tTt	p.C107F	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	107					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)					prostate(1)	1						CCTCGAAAATGTTAAGCCTGG	0.478																																																0													86	80	82					2																	159672329		2203	4300	6503	SO:0001583	missense	92196				CCDS33307.1	2q24	2007-06-26			ENSG00000163331	ENSG00000163331			21490	protein-coding gene	gene with protein product							Standard	NM_001017920		Approved		uc002uaf.3	A0PJW8	OTTHUMG00000153970	ENST00000309950.3:c.320G>T	2.37:g.159672329G>T	ENSP00000309538:p.Cys107Phe		A0PJW9|B9EIK6	Missense_Mutation	SNP	ENST00000309950.3	37	CCDS33307.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685777	0.68157	.	.	ENSG00000163331	ENST00000309950	T	0.40476	1.03	5.58	4.7	0.59300	.	0.107287	0.64402	D	0.000005	T	0.41858	0.1177	N	0.24115	0.695	0.80722	D	1	D	0.54047	0.964	P	0.53954	0.738	T	0.37776	-0.9691	10	0.87932	D	0	.	12.7345	0.57216	0.0819:0.0:0.9181:0.0	.	107	A0PJW8	DAPL1_HUMAN	F	107	ENSP00000309538:C107F	ENSP00000309538:C107F	C	+	2	0	DAPL1	159380575	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.316000	0.59178	2.641000	0.89580	0.563000	0.77884	TGT		0.478	DAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333265.1	NM_001017920		T	159672329	G	T	159672329	3	4	42	1	0	0	0	0	1	0	0	0	4240	1377	48	4	334	4	DAPL1	2	159672329	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	58662532	159672329	83527044	14	2971											
PLEKHA3	65977	broad.mit.edu	37	2	179360386	179360386	+	Splice_Site	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:179360386T>G	ENST00000234453.5	+	5	1016	c.614T>G	c.(613-615)aTg>aGg	p.M205R		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	205						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CCTGTTCAAATGGTTTGAACT	0.398																																																0													167	147	154					2																	179360386		2203	4300	6503	SO:0001630	splice_region_variant	65977			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.615+1T>G	2.37:g.179360386T>G			Q4ZG69|Q86TQ1|Q9NXT3	Splice_Site	SNP	ENST00000234453.5	37	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055104	0.75960	.	.	ENSG00000116095	ENST00000234453;ENST00000421187	T	0.11930	2.73	5.37	5.37	0.77165	.	0.259853	0.49305	D	0.000152	T	0.10035	0.0246	L	0.27053	0.805	0.54753	D	0.99998	P	0.42827	0.791	B	0.34385	0.181	T	0.15435	-1.0437	10	0.35671	T	0.21	5.0401	15.6672	0.77238	0.0:0.0:0.0:1.0	.	205	Q9HB20	PKHA3_HUMAN	R	205;14	ENSP00000234453:M205R	ENSP00000234453:M205R	M	+	2	0	PLEKHA3	179068632	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.148000	0.58085	2.158000	0.67659	0.460000	0.39030	ATG		0.398	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091	Missense_Mutation	G	179360386	T	G	179360386	5	3	42	1	0	0	0	0	0	0	1	0	12059	1478	51	5	632	5	PLEKHA3	2	179360386	Splice_Site	SNP	T	TCGA-A3-3313-01A-01D-0966-08	19688057	179360386	63838987	15	2972											
TTN	7273	broad.mit.edu	37	2	179584535	179584535	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:179584535G>A	ENST00000591111.1	-	80	22957	c.22733C>T	c.(22732-22734)cCc>cTc	p.P7578L	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6651L|TTN_ENST00000589042.1_Missense_Mutation_p.P7895L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13132	Ig-like 58.				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)			CATGGGTTCGGGCTTCTCTAT	0.398																																																0													97	86	89					2																	179584535		1859	4099	5958	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22733C>T	2.37:g.179584535G>A	ENSP00000465570:p.Pro7578Leu		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	12.29	1.893462	0.33442	.	.	ENSG00000155657	ENST00000342992	T	0.53857	0.6	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53706	0.1813	L	0.49350	1.555	0.80722	D	1	B	0.18166	0.026	B	0.19946	0.027	T	0.48917	-0.8992	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	7578	Q8WZ42	TITIN_HUMAN	L	6651	ENSP00000343764:P6651L	ENSP00000343764:P6651L	P	-	2	0	TTN	179292780	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.062000	0.89475	2.894000	0.99253	0.655000	0.94253	CCC		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179584535	G	A	179584535	3	1	42	1	0	0	0	0	1	0	0	0	16740	1232	43	2	80969	2	TTN	2	179584535	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	224149	179584535	63614838	16	2973											
IRS1	3667	broad.mit.edu	37	2	227662313	227662313	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:227662313C>T	ENST00000305123.5	-	1	2162	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	381	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGGCGAGCAGCGGGAAGCCGG	0.677											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													33	41	38					2																	227662313		2197	4292	6489	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1142G>A	2.37:g.227662313C>T	ENSP00000304895:p.Arg381His	2321		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280240	0.23392	.	.	ENSG00000169047	ENST00000305123	T	0.56611	0.45	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.51618	0.1685	N	0.08118	0	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.45190	-0.9278	10	0.06891	T	0.86	-19.8765	19.3349	0.94312	0.0:1.0:0.0:0.0	.	381	P35568	IRS1_HUMAN	H	381	ENSP00000304895:R381H	ENSP00000304895:R381H	R	-	2	0	IRS1	227370557	1.000000	0.71417	0.984000	0.44739	0.924000	0.55760	5.725000	0.68507	2.564000	0.86499	0.462000	0.41574	CGC		0.677	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		T	227662313	C	T	227662313	3	4	42	1	0	0	0	0	1	0	0	0	7842	768	27	1	2590	1	IRS1	2	227662313	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	48077778	227662313	15537060	17	2974											
LARS2	23395	broad.mit.edu	37	3	45537772	45537772	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:45537772A>G	ENST00000415258.1	+	13	1670	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	LARS2_ENST00000265537.3_Missense_Mutation_p.K510R|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.K467R			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	510					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTTAGGTGCAAGGGAGCAGCC	0.363																																																0													159	154	156					3																	45537772		2203	4300	6503	SO:0001583	missense	23395			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1529A>G	3.37:g.45537772A>G	ENSP00000408576:p.Lys510Arg			Missense_Mutation	SNP	ENST00000415258.1	37	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178018	0.78564	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.76448	-1.02;-1.02;-1.02	5.49	5.49	0.81192	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.157299	0.56097	D	0.000036	T	0.80037	0.4550	M	0.72576	2.205	0.41153	D	0.98604	P;B	0.37061	0.58;0.437	B;B	0.43445	0.42;0.254	T	0.82440	-0.0456	10	0.87932	D	0	-18.749	11.5725	0.50843	0.8509:0.1491:0.0:0.0	.	467;510	E9PHM2;Q15031	.;SYLM_HUMAN	R	510;510;467	ENSP00000265537:K510R;ENSP00000408576:K510R;ENSP00000412893:K467R	ENSP00000265537:K510R	K	+	2	0	LARS2	45512776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.256000	0.51492	2.085000	0.62840	0.528000	0.53228	AAG		0.363	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		G	45537772	A	G	45537772	3	3	42	1	0	0	0	0	1	0	0	0	8637	72	3	3	1575	3	LARS2	3	45537772	Missense_Mutation	SNP	A	TCGA-A3-3313-01A-01D-0966-08		45537772	152484658	18	2975											
C3orf38	285237	broad.mit.edu	37	3	88199301	88199301	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:88199301C>T	ENST00000318887.3	+	1	409	c.99C>T	c.(97-99)gtC>gtT	p.V33V	CGGBP1_ENST00000462901.1_5'Flank|C3orf38_ENST00000486971.1_Silent_p.V33V	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	33					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GCGACACTGTCACCAACCGCC	0.617																																																0													95	71	79					3																	88199301		2203	4300	6503	SO:0001819	synonymous_variant	285237			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.99C>T	3.37:g.88199301C>T			B2R8X6|Q8TC85	Silent	SNP	ENST00000318887.3	37	CCDS2921.2																																																																																				0.617	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		T	88199301	C	T	88199301	2	4	42	1	0	0	0	0	0	0	0	1	2230	813	29	2		2	C3orf38	3	88199301	Silent	SNP	C	TCGA-A3-3313-01A-01D-0966-08	42661529	88199301	109823129	19	2976											
SLC12A8	84561	broad.mit.edu	37	3	124810981	124810982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:124810981_124810982insT	ENST00000393469.4	-	10	1815_1816	c.1766_1767insA	c.(1765-1767)tatfs	p.Y589fs	SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000423114.2_Frame_Shift_Ins_p.Y618fs|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	589					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						ACATGTGGGTATAGAAAGAAGT	0.45																																																0																																										SO:0001589	frameshift_variant	84561				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1767dupA	3.37:g.124810982_124810982dupT	ENSP00000377112:p.Tyr589fs		C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Frame_Shift_Ins	INS	ENST00000393469.4	37	CCDS43143.1																																																																																				0.45	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		T	124810982	-	T	124810981	7	5	42	1	0	1	1	0	0	0	0	0	14395	456	16	0	393	0	SLC12A8	3	124810981	Frame_Shift_Ins	INS	-	TCGA-A3-3313-01A-01D-0966-08	36611680	124810981	73211449	20	2977											
MCM2	4171	broad.mit.edu	37	3	127338092	127338092	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:127338092A>T	ENST00000265056.7	+	13	2480	c.2236A>T	c.(2236-2238)Atg>Ttg	p.M746L	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	746					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GGTGGCCAAGATGTACAGTGA	0.567																																																0													117	94	102					3																	127338092		2203	4300	6503	SO:0001583	missense	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2236A>T	3.37:g.127338092A>T	ENSP00000265056:p.Met746Leu		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.773|9.773	1.173298|1.173298	0.21704|0.21704	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.09255|.	3.0|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.037864|.	0.85682|.	D|.	0.000000|.	T|T	0.35189|0.35189	0.0923|0.0923	N|N	0.03891|0.03891	-0.335|-0.335	0.80722|0.80722	D|D	1|1	B;B;B|.	0.14438|.	0.01;0.0;0.0|.	B;B;B|.	0.13407|.	0.009;0.006;0.006|.	T|T	0.33523|0.33523	-0.9865|-0.9865	10|5	0.02654|.	T|.	1|.	-50.0606|-50.0606	15.7928|15.7928	0.78380|0.78380	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	796;616;746|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	L|S	746;650;796|677	ENSP00000265056:M746L|.	ENSP00000265056:M746L|.	M|R	+|+	1|3	0|2	MCM2|MCM2	128820782|128820782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.853000|8.853000	0.92222|0.92222	2.132000|2.132000	0.65825|0.65825	0.482000|0.482000	0.46254|0.46254	ATG|AGA		0.567	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			T	127338092	A	T	127338092	3	4	42	1	0	0	0	0	1	0	0	0	9388	333	12	5	2286	5	MCM2	3	127338092	Missense_Mutation	SNP	A	TCGA-A3-3313-01A-01D-0966-08	2527111	127338092	70684338	21	2978											
FAM194A	131831	broad.mit.edu	37	3	150404112	150404112	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:150404112G>A	ENST00000295910.6	-	4	635	c.583C>T	c.(583-585)Cct>Tct	p.P195S	FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGACATTCAGGTTCAGCTTTC	0.388																																																0													143	140	141					3																	150404112		2203	4300	6503	SO:0001583	missense	131831																														ENST00000295910.6:c.583C>T	3.37:g.150404112G>A	ENSP00000295910:p.Pro195Ser			Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	7.131	0.579930	0.13686	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14144	2.71;2.53	3.41	0.518	0.17030	.	0.828030	0.10150	N	0.709670	T	0.08758	0.0217	L	0.40543	1.245	0.09310	N	1	B	0.22909	0.077	B	0.23275	0.045	T	0.43893	-0.9363	10	0.09084	T	0.74	-0.5384	3.7466	0.08551	0.2368:0.204:0.5591:0.0	.	195	Q7L0X2	F194A_HUMAN	S	195;49;153	ENSP00000295910:P195S;ENSP00000419366:P49S	ENSP00000295910:P195S	P	-	1	0	FAM194A	151886802	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.024000	0.12435	0.090000	0.17273	0.491000	0.48974	CCT		0.388	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			A	150404112	G	A	150404112	3	1	42	1	0	0	0	0	1	0	0	0	5528	1261	44	2	1452	2	FAM194A	3	150404112	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	23066020	150404112	47618318	22	2979											
OPA1	4976	broad.mit.edu	37	3	193382692	193382693	+	Frame_Shift_Ins	INS	-	-	TATA			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:193382692_193382693insTATA	ENST00000392438.3	+	25	2754_2755	c.2520_2521insTATA	c.(2521-2523)tatfs	p.-841fs	OPA1_ENST00000361150.2_Frame_Shift_Ins_p.-842fs|OPA1_ENST00000361908.3_Frame_Shift_Ins_p.-878fs|OPA1_ENST00000361510.2_Frame_Shift_Ins_p.-896fs|OPA1_ENST00000361828.2_Frame_Shift_Ins_p.-859fs|OPA1_ENST00000361715.2_Frame_Shift_Ins_p.-860fs	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGCATCAAGTTTATAGAAGACA	0.327																																																0																																										SO:0001589	frameshift_variant	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2521_2524dupTATA	3.37:g.193382693_193382696dupTATA	ENSP00000376233:p.Tyr841fs		D3DNW4	Frame_Shift_Ins	INS	ENST00000392438.3	37	CCDS43186.1																																																																																				0.327	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		TATA	193382693	-	TATA	193382692	7	5	42	1	0	1	1	0	0	0	0	0	10873	1828	64	0	2791	0	OPA1	3	193382692	Frame_Shift_Ins	INS	-	TCGA-A3-3313-01A-01D-0966-08	42978580	193382692	4639738	23	2980											
C1QTNF7	114905	broad.mit.edu	37	4	15437360	15437360	+	5'UTR	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:15437360A>G	ENST00000444304.2	+	0	319				C1QTNF7_ENST00000295297.4_Splice_Site_p.E5G|C1QTNF7_ENST00000429690.1_5'UTR			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7						protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TCTCTTCCAGAGCCAAAGATG	0.448																																																0													93	88	90					4																	15437360		2203	4300	6503	SO:0001623	5_prime_UTR_variant	114905			AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.-8A>G	4.37:g.15437360A>G			B2RBT3|J3KPW3	Splice_Site	SNP	ENST00000444304.2	37	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829547	0.71258	.	.	ENSG00000163145	ENST00000397700;ENST00000295297	D;D	0.91464	-2.85;-2.52	5.54	3.05	0.35203	.	.	.	.	.	D	0.87720	0.6248	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81116	-0.1079	5	.	.	.	.	3.4297	0.07424	0.5381:0.2659:0.0686:0.1274	.	.	.	.	G	5	ENSP00000380812:E5G;ENSP00000295297:E5G	.	E	+	2	0	C1QTNF7	15046458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.549000	0.45803	0.449000	0.26747	0.533000	0.62120	GAG		0.448	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			G	15437360	A	G	15437360	1	3	42	0	1	0	0	0	0	0	0	0	1970	318	11	3		3	C1QTNF7	4	15437360	5'UTR	SNP	A	TCGA-A3-3313-01A-01D-0966-08		15437360	175716916	24	2981											
ATP8A1	10396	broad.mit.edu	37	4	42618092	42618092	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:42618092G>C	ENST00000381668.5	-	5	598	c.367C>G	c.(367-369)Cga>Gga	p.R123G	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	123					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCTTTATGTCGTTTCTAAAGT	0.299																																																0													171	163	166					4																	42618092		2200	4300	6500	SO:0001583	missense	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.367C>G	4.37:g.42618092G>C	ENSP00000371084:p.Arg123Gly		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052996	0.55218	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.85629	-2.01;-2.01	5.96	5.96	0.96718	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96137	0.8741	H	0.99800	4.79	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.97110	0.982;1.0;1.0	D	0.97105	0.9800	10	0.72032	D	0.01	.	13.3173	0.60415	0.0:0.0:0.7407:0.2593	.	123;123;123	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	G	123	ENSP00000371084:R123G;ENSP00000264449:R123G	ENSP00000264449:R123G	R	-	1	2	ATP8A1	42312849	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	4.497000	0.60367	2.831000	0.97527	0.650000	0.86243	CGA		0.299	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		C	42618092	G	C	42618092	3	2	42	1	0	0	0	0	1	0	0	0	1192	1153	40	4	3337	4	ATP8A1	4	42618092	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	27180732	42618092	148536184	25	2982											
GRSF1	2926	broad.mit.edu	37	4	71693661	71693661	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:71693661T>G	ENST00000254799.6	-	6	1160	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T	GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	348					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGTTATATACTTAGCAGTAGG	0.373																																																0													194	191	192					4																	71693661		1860	4096	5956	SO:0001583	missense	2926			BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"RNA binding motif (RRM) containing"	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1043A>C	4.37:g.71693661T>G	ENSP00000254799:p.Lys348Thr		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.598946|4.598946	0.87055|0.87055	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193|ENST00000514161	T;T;T;T;T|.	0.19532|.	2.14;2.21;2.14;2.21;2.22|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.510962|.	0.22261|.	N|.	0.062402|.	T|T	0.57475|0.57475	0.2056|0.2056	L|L	0.27053|0.27053	0.805|0.805	0.41257|0.41257	D|D	0.986752|0.986752	D;P|.	0.54601|.	0.967;0.931|.	B;B|.	0.44224|.	0.432;0.444|.	T|T	0.60546|0.60546	-0.7242|-0.7242	10|6	0.14656|0.54805	T|T	0.56|0.06	-11.1592|-11.1592	15.6176|15.6176	0.76780|0.76780	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	261;348|.	B7Z5F9;Q12849|.	.;GRSF1_HUMAN|.	T|R	348;186;280;321;186;230|285	ENSP00000254799:K348T;ENSP00000389219:K186T;ENSP00000427354:K321T;ENSP00000425430:K186T;ENSP00000443380:K230T|.	ENSP00000254799:K348T|ENSP00000427644:S113R	K|S	-|-	2|1	0|0	GRSF1|GRSF1	71912525|71912525	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	2.431000|2.431000	0.44775|0.44775	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	AAG|AGT		0.373	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		G	71693661	T	G	71693661	3	3	42	1	0	0	0	0	1	0	0	0	6811	1609	56	5	415	5	GRSF1	4	71693661	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	29075569	71693661	119460615	26	2983											
FAT4	79633	broad.mit.edu	37	4	126329664	126329665	+	Frame_Shift_Ins	INS	-	-	ATTT			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:126329664_126329665insATTT	ENST00000394329.3	+	4	5648_5649	c.5635_5636insATTT	c.(5635-5637)attfs	p.I1879fs	FAT4_ENST00000335110.5_Frame_Shift_Ins_p.I177fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1879	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTACATATATTGTGAATGAA	0.322																																																0																																										SO:0001589	frameshift_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	Exception_encountered	4.37:g.126329664_126329665insATTT	ENSP00000377862:p.Ile1879fs		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Ins	INS	ENST00000394329.3	37	CCDS3732.3																																																																																				0.322	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		ATTT	126329665	-	ATTT	126329664	7	5	42	1	0	1	1	0	0	0	0	0	5694	449	16	0	5649	0	FAT4	4	126329664	Frame_Shift_Ins	INS	-	TCGA-A3-3313-01A-01D-0966-08	54636003	126329664	64824612	27	2984											
KIAA0922	23240	broad.mit.edu	37	4	154523863	154523863	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:154523863delA	ENST00000409663.3	+	23	2672	c.2620delA	c.(2620-2622)acgfs	p.T874fs	KIAA0922_ENST00000409959.3_Frame_Shift_Del_p.T875fs|KIAA0922_ENST00000440693.1_Frame_Shift_Del_p.T791fs	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	874						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTGGAGGCTCACGGTCTTCTT	0.507																																																0													161	160	160					4																	154523863		2203	4300	6503	SO:0001589	frameshift_variant	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2620delA	4.37:g.154523863delA	ENSP00000386574:p.Thr874fs		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Frame_Shift_Del	DEL	ENST00000409663.3	37	CCDS3783.2																																																																																				0.507	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		-	154523863	A	-	154523863	7	5	42	1	0	1	0	1	0	0	0	0	8203	159	6	0	2713	0	KIAA0922	4	154523863	Frame_Shift_Del	DEL	A	TCGA-A3-3313-01A-01D-0966-08	28194199	154523863	36630413	28	2985											
DDX60L	91351	broad.mit.edu	37	4	169392986	169392986	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:169392986C>T	ENST00000511577.1	-	4	423	c.176G>A	c.(175-177)gGa>gAa	p.G59E	DDX60L_ENST00000505890.1_Missense_Mutation_p.G59E|DDX60L_ENST00000260184.7_Missense_Mutation_p.G59E|DDX60L_ENST00000515088.1_5'UTR|SNORA51_ENST00000384442.1_RNA			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	59							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAGATTCTGTCCCCACTTGAA	0.353																																																0													89	87	87					4																	169392986		1925	4167	6092	SO:0001583	missense	91351			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.176G>A	4.37:g.169392986C>T	ENSP00000422423:p.Gly59Glu		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097842	0.56075	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505696;ENST00000514748;ENST00000512371	T;T;T	0.25579	1.79;1.79;1.79	4.23	4.23	0.50019	.	0.000000	0.31041	U	0.008366	T	0.46268	0.1384	M	0.68317	2.08	0.24839	N	0.992472	D;D;D	0.76494	0.999;0.991;0.987	D;P;P	0.71656	0.974;0.669;0.724	T	0.30822	-0.9965	10	0.52906	T	0.07	.	12.4771	0.55821	0.1682:0.8318:0.0:0.0	.	59;59;59	D6RB62;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	E	59	ENSP00000260184:G59E;ENSP00000422423:G59E;ENSP00000422202:G59E	ENSP00000260184:G59E	G	-	2	0	DDX60L	169629561	0.096000	0.21769	0.076000	0.20297	0.845000	0.48019	1.179000	0.31993	1.846000	0.53633	0.467000	0.42956	GGA		0.353	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		T	169392986	C	T	169392986	3	4	42	1	0	0	0	0	1	0	0	0	4381	855	30	2	5084	2	DDX60L	4	169392986	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	14869123	169392986	21761290	29	2986											
SLC12A7	10723	broad.mit.edu	37	5	1076852	1076852	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:1076852T>C	ENST00000264930.5	-	13	1748	c.1705A>G	c.(1705-1707)Atc>Gtc	p.I569V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	569					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGATGAGGATGCCAGTCTCG	0.662																																																0													67	61	63					5																	1076852		2202	4298	6500	SO:0001583	missense	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1705A>G	5.37:g.1076852T>C	ENSP00000264930:p.Ile569Val		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	t	9.041	0.989644	0.18966	.	.	ENSG00000113504	ENST00000264930	D	0.98567	-5.0	4.14	1.7	0.24286	Amino acid permease domain (1);	0.056801	0.64402	N	0.000001	D	0.94102	0.8109	N	0.26042	0.785	0.52099	D	0.999942	B	0.28470	0.213	B	0.28139	0.086	D	0.88177	0.2868	10	0.41790	T	0.15	.	6.9779	0.24686	0.0:0.2034:0.0:0.7966	.	569	Q9Y666	S12A7_HUMAN	V	569	ENSP00000264930:I569V	ENSP00000264930:I569V	I	-	1	0	SLC12A7	1129852	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	3.545000	0.53648	0.133000	0.18654	-0.436000	0.05848	ATC		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		C	1076852	T	C	1076852	3	2	42	1	0	0	0	0	1	0	0	0	14394	1464	51	3	1594	3	SLC12A7	5	1076852	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08		1076852	179838408	30	2987											
CDH9	1007	broad.mit.edu	37	5	26890658	26890658	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:26890658C>T	ENST00000231021.4	-	8	1441	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATCAGTATGCCGATCAACAG	0.388																																					Melanoma(8;187 585 15745 40864 52829)											0													85	86	86					5																	26890658		2203	4300	6503	SO:0001819	synonymous_variant	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1269G>A	5.37:g.26890658C>T			Q3B7I5	Silent	SNP	ENST00000231021.4	37	CCDS3893.1																																																																																				0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26890658	C	T	26890658	2	4	42	1	0	0	0	0	0	0	0	1	3119	726	26	2		2	CDH9	5	26890658	Silent	SNP	C	TCGA-A3-3313-01A-01D-0966-08	25813806	26890658	154024602	31	2988											
RICTOR	253260	broad.mit.edu	37	5	38945658	38945658	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:38945658C>G	ENST00000357387.3	-	34	4598	c.4568G>C	c.(4567-4569)tGt>tCt	p.C1523S	RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATACAGACACAATAAAGGCA	0.403																																																0													161	145	151					5																	38945658		2203	4300	6503	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4568G>C	5.37:g.38945658C>G	ENSP00000349959:p.Cys1523Ser			Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986732	0.93106	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66280	-0.15;-0.2	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	M	0.68593	2.085	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.75020	0.985;0.985	T	0.79478	-0.1787	10	0.87932	D	0	-13.4599	20.3242	0.98691	0.0:1.0:0.0:0.0	.	1523;1547	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	1523;1547	ENSP00000349959:C1523S;ENSP00000296782:C1547S	ENSP00000296782:C1547S	C	-	2	0	RICTOR	38981415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.903000	0.75703	2.882000	0.98803	0.655000	0.94253	TGT		0.403	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		G	38945658	C	G	38945658	3	3	42	1	0	0	0	0	1	0	0	0	13364	478	17	4	578	4	RICTOR	5	38945658	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	12055000	38945658	141969602	32	2989											
PAPD4	167153	broad.mit.edu	37	5	78975478	78975478	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:78975478T>G	ENST00000296783.3	+	14	1584	c.1285T>G	c.(1285-1287)Tac>Gac	p.Y429D	PAPD4_ENST00000428308.2_Missense_Mutation_p.Y429D|PAPD4_ENST00000453514.1_Missense_Mutation_p.Y429D|PAPD4_ENST00000423041.2_Missense_Mutation_p.Y425D|PAPD4_ENST00000504233.1_Missense_Mutation_p.Y386D			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	429	PAP-associated.				hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGAAATAAATACATCTGTGT	0.348																																																0													121	108	112					5																	78975478		2203	4299	6502	SO:0001583	missense	167153			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1285T>G	5.37:g.78975478T>G	ENSP00000296783:p.Tyr429Asp		Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122534	0.77436	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	6.06	4.91	0.64330	PAP/25A-associated (1);	0.241545	0.40385	N	0.001114	T	0.56001	0.1956	L	0.50333	1.59	0.40577	D	0.981355	B;P;D	0.57257	0.072;0.584;0.979	B;B;P	0.52159	0.103;0.419;0.691	T	0.55522	-0.8128	10	0.36615	T	0.2	-3.0686	11.9271	0.52825	0.0:0.0672:0.0:0.9328	.	429;425;386	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	D	429;425;386;429;429	ENSP00000397563:Y429D;ENSP00000393412:Y425D;ENSP00000421966:Y386D;ENSP00000396861:Y429D;ENSP00000296783:Y429D	ENSP00000296783:Y429D	Y	+	1	0	PAPD4	79011234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.301000	0.72782	1.119000	0.41883	0.533000	0.62120	TAC		0.348	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		G	78975478	T	G	78975478	3	3	42	1	0	0	0	0	1	0	0	0	11426	1406	49	5	1331	5	PAPD4	5	78975478	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	40029820	78975478	101939782	33	2990											
ZNF474	133923	broad.mit.edu	37	5	121488728	121488728	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:121488728T>G	ENST00000296600.4	+	2	1426	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	348							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GATAAGGTAATTCATGCCACA	0.473																																																0													62	59	60					5																	121488728		2203	4300	6503	SO:0001583	missense	133923			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"Zinc fingers, C2H2-type"	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.1043T>G	5.37:g.121488728T>G	ENSP00000296600:p.Ile348Ser		A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.513252	0.00975	.	.	ENSG00000164185	ENST00000296600	T	0.50813	0.73	5.43	-1.19	0.09585	.	1.705140	0.04568	U	0.392818	T	0.28366	0.0701	N	0.24115	0.695	0.09310	N	0.999994	B	0.30793	0.295	B	0.30029	0.11	T	0.10314	-1.0635	10	0.07482	T	0.82	.	5.6419	0.17569	0.1381:0.413:0.0:0.4489	.	348	Q6S9Z5	ZN474_HUMAN	S	348	ENSP00000296600:I348S	ENSP00000296600:I348S	I	+	2	0	ZNF474	121516627	0.482000	0.25948	0.029000	0.17559	0.003000	0.03518	0.392000	0.20801	-0.449000	0.07117	-0.899000	0.02877	ATT		0.473	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		G	121488728	T	G	121488728	3	3	42	1	0	0	0	0	1	0	0	0	17937	1493	52	5	1045	5	ZNF474	5	121488728	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	42513250	121488728	59426532	34	2991											
NRG2	9542	broad.mit.edu	37	5	139422171	139422172	+	In_Frame_Ins	INS	-	-	TAG			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:139422171_139422172insTAG	ENST00000361474.1	-	1	707_708	c.483_484insCTA	c.(481-486)gtaaag>gtaCTAaag	p.161_162VK>VLK	NRG2_ENST00000289422.7_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000394770.1_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000541337.1_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000545385.1_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000358522.3_In_Frame_Ins_p.161_162VK>VLK|NRG2_ENST00000289409.4_In_Frame_Ins_p.161_162VK>VLK	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	161					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGCACCTTTACCAACGCCA	0.693																																																0																																										SO:0001652	inframe_insertion	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.483_484insCTA	5.37:g.139422171_139422172insTAG	ENSP00000354910:p.Val161_Lys162insLeu			In_Frame_Ins	INS	ENST00000361474.1	37	CCDS4217.1																																																																																				0.693	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		TAG	139422172	-	TAG	139422171	7	5	42	1	0	1	1	0	0	0	0	0	10650	1850	64	0	2199	0	NRG2	5	139422171	In_Frame_Ins	INS	-	TCGA-A3-3313-01A-01D-0966-08	17933443	139422171	41493089	35	2992											
TCOF1	6949	broad.mit.edu	37	5	149769510	149769510	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:149769510G>T	ENST00000504761.2	+	19	3107	c.3107G>T	c.(3106-3108)aGc>aTc	p.S1036I	TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000451292.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1036					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)			CCCAAAGCCAGCATGGCTGGG	0.582																																																0													59	55	57					5																	149769510		2203	4300	6503	SO:0001583	missense	6949				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.3107G>T	5.37:g.149769510G>T	ENSP00000421655:p.Ser1036Ile		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419195	0.25552	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.76578	-0.98;-0.96;-0.96;-0.96;-0.62;-1.03;-0.96;-0.95	2.22	1.33	0.21861	.	.	.	.	.	T	0.69744	0.3145	L	0.48642	1.525	0.09310	N	1	P;P;P;D;P	0.54772	0.902;0.902;0.902;0.968;0.902	P;P;P;P;P	0.44811	0.461;0.461;0.461;0.452;0.461	T	0.61053	-0.7140	9	0.72032	D	0.01	.	4.989	0.14205	0.1799:0.0:0.8201:0.0	.	1036;959;1036;1036;959	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	I	1073;1036;959;959;1036;1036;1036;1073	ENSP00000400939:S1073I;ENSP00000367028:S1036I;ENSP00000409944:S959I;ENSP00000325223:S959I;ENSP00000406888:S1036I;ENSP00000390717:S1036I;ENSP00000421655:S1036I;ENSP00000427484:S1073I	ENSP00000325223:S959I	S	+	2	0	TCOF1	149749703	0.012000	0.17670	0.035000	0.18076	0.007000	0.05969	0.692000	0.25482	0.486000	0.27676	-0.157000	0.13467	AGC		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		T	149769510	G	T	149769510	3	4	42	1	0	0	0	0	1	0	0	0	15713	971	34	4	3203	4	TCOF1	5	149769510	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	10347339	149769510	31145750	36	2993											
ZNF193	7746	broad.mit.edu	37	6	28200339	28200339	+	Splice_Site	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:28200339G>A	ENST00000252207.5	+	4	716		c.e4-1		ZSCAN9_ENST00000425468.2_Splice_Site|ZSCAN9_ENST00000531979.1_Splice_Site	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTTGTTTCAGATGAAGTAAC	0.408																																																0													63	60	61					6																	28200339		2203	4300	6503	SO:0001630	splice_region_variant	7746			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"-", "Zinc fingers, C2H2-type"	12984	protein-coding gene	gene with protein product		602246	"zinc finger protein 193"	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.569-1G>A	6.37:g.28200339G>A			B4E1W6|E7EVQ2|Q2TTR1	Splice_Site	SNP	ENST00000252207.5	37	CCDS4646.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990901	0.74703	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527844	.	.	.	3.65	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0901	0.48110	0.0:0.1902:0.8098:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF193	28308318	0.057000	0.20700	0.883000	0.34634	0.905000	0.53344	0.909000	0.28558	1.068000	0.40764	0.655000	0.94253	.		0.408	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299	Intron	A	28200339	G	A	28200339	5	1	42	1	0	0	0	0	0	0	1	0	17762	956	33	2	578	2	ZNF193	6	28200339	Splice_Site	SNP	G	TCGA-A3-3313-01A-01D-0966-08		28200339	142914728	37	2994											
VARS2	57176	broad.mit.edu	37	6	30890728	30890728	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:30890728C>A	ENST00000321897.5	+	22	2792	c.2160C>A	c.(2158-2160)ttC>ttA	p.F720L	VARS2_ENST00000542001.1_Missense_Mutation_p.F580L|VARS2_ENST00000541562.1_Missense_Mutation_p.F750L|VARS2_ENST00000416670.2_Missense_Mutation_p.F720L|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	720					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCTGAGATTCACACTCTGCT	0.612																																																0													93	100	98					6																	30890728		1509	2708	4217	SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2160C>A	6.37:g.30890728C>A	ENSP00000316092:p.Phe720Leu		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915096	0.52546	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.37	-2.03	0.07365	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.096084	0.64402	D	0.000001	T	0.16896	0.0406	L	0.41027	1.25	0.30821	N	0.737783	P;P;B;D	0.55385	0.867;0.504;0.161;0.971	P;B;B;P	0.51487	0.671;0.34;0.209;0.649	T	0.15896	-1.0421	10	0.87932	D	0	-23.9831	11.376	0.49728	0.0:0.384:0.0:0.616	.	158;718;750;720	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	L	720;720;580;750	ENSP00000316092:F720L;ENSP00000394802:F720L;ENSP00000438200:F580L;ENSP00000441000:F750L	ENSP00000316092:F720L	F	+	3	2	VARS2	30998707	0.000000	0.05858	0.010000	0.14722	0.963000	0.63663	-0.865000	0.04250	-0.705000	0.05035	-0.258000	0.10820	TTC		0.612	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		A	30890728	C	A	30890728	3	1	42	1	0	0	0	0	1	0	0	0	17129	825	29	4	2340	4	VARS2	6	30890728	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	2690389	30890728	140224339	38	2995											
VARS2	57176	broad.mit.edu	37	6	30890912	30890912	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:30890912C>T	ENST00000321897.5	+	23	2849	c.2217C>T	c.(2215-2217)gtC>gtT	p.V739V	VARS2_ENST00000542001.1_Silent_p.V599V|VARS2_ENST00000541562.1_Silent_p.V769V|VARS2_ENST00000416670.2_Silent_p.V739V|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	739					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTCTGAGGTCCAGAGCTGCC	0.542																																																0													93	98	96					6																	30890912		1510	2708	4218	SO:0001819	synonymous_variant	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2217C>T	6.37:g.30890912C>T			A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	CCDS34387.1																																																																																				0.542	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		T	30890912	C	T	30890912	2	4	42	1	0	0	0	0	0	0	0	1	17129	842	30	2		2	VARS2	6	30890912	Silent	SNP	C	TCGA-A3-3313-01A-01D-0966-08	184	30890912	140224155	39	2996											
NEU1	4758	broad.mit.edu	37	6	31829196	31829196	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31829196G>A	ENST00000375631.4	-	3	513	c.384C>T	c.(382-384)gtC>gtT	p.V128V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	128					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	CCCCATCATTGACAATGAACG	0.493																																																0													62	66	65					6																	31829196		1510	2708	4218	SO:0001819	synonymous_variant	4758			AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.384C>T	6.37:g.31829196G>A				Silent	SNP	ENST00000375631.4	37	CCDS4723.1																																																																																				0.493	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			A	31829196	G	A	31829196	2	1	42	1	0	0	0	0	0	0	0	1	10343	1277	45	2		2	NEU1	6	31829196	Silent	SNP	G	TCGA-A3-3313-01A-01D-0966-08	938284	31829196	139285871	40	2997											
UBR2	23304	broad.mit.edu	37	6	42541500	42541500	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42541500G>A	ENST00000372899.1	+	2	365	c.107G>A	c.(106-108)aGa>aAa	p.R36K	UBR2_ENST00000372901.1_Missense_Mutation_p.R36K|UBR2_ENST00000372903.2_Missense_Mutation_p.R36K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	36					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GACCTCACTAGAGAAGTGTAC	0.403																																																0													87	88	88					6																	42541500		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.107G>A	6.37:g.42541500G>A	ENSP00000361990:p.Arg36Lys		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	7.490	0.650466	0.14516	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.70986	-0.53;0.47;0.47	5.58	3.8	0.43715	.	0.160180	0.56097	D	0.000030	T	0.23410	0.0566	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29731	-1.0002	10	0.05351	T	0.99	-12.9543	6.9564	0.24574	0.3809:0.0:0.6191:0.0	.	36;36	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	K	36	ENSP00000361994:R36K;ENSP00000361990:R36K;ENSP00000361992:R36K	ENSP00000361990:R36K	R	+	2	0	UBR2	42649478	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.504000	0.53347	0.819000	0.34492	0.655000	0.94253	AGA		0.403	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		A	42541500	G	A	42541500	3	1	42	1	0	0	0	0	1	0	0	0	16907	942	33	2	113	2	UBR2	6	42541500	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	10712304	42541500	128573567	41	2998											
UBR2	23304	broad.mit.edu	37	6	42541661	42541661	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42541661G>A	ENST00000372899.1	+	2	526	c.268G>A	c.(268-270)Gag>Aag	p.E90K	UBR2_ENST00000372901.1_Missense_Mutation_p.E90K|UBR2_ENST00000372903.2_Missense_Mutation_p.E90K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	90					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCCAAAACTTGAGCAAGCAAA	0.388																																																0													123	119	120					6																	42541661		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.268G>A	6.37:g.42541661G>A	ENSP00000361990:p.Glu90Lys		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	5.653	0.305140	0.10678	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.71341	-0.56;0.47;0.47	5.53	4.66	0.58398	.	0.163086	0.53938	D	0.000044	T	0.28400	0.0702	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24977	-1.0145	10	0.02654	T	1	-5.8685	9.8645	0.41134	0.0725:0.1407:0.7869:0.0	.	90;90	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	K	90	ENSP00000361994:E90K;ENSP00000361990:E90K;ENSP00000361992:E90K	ENSP00000361990:E90K	E	+	1	0	UBR2	42649639	0.996000	0.38824	1.000000	0.80357	0.974000	0.67602	2.375000	0.44283	1.318000	0.45170	0.655000	0.94253	GAG		0.388	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		A	42541661	G	A	42541661	3	1	42	1	0	0	0	0	1	0	0	0	16907	1291	45	2	274	2	UBR2	6	42541661	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	161	42541661	128573406	42	2999											
TBCC	6903	broad.mit.edu	37	6	42713500	42713501	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42713500_42713501insA	ENST00000372876.1	-	1	333_334	c.311_312insT	c.(310-312)ttcfs	p.F104fs	TBCC_ENST00000244625.2_Frame_Shift_Ins_p.F104fs	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	104					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AAGCGGCTAGGAAAAAAACTGA	0.668																																																0																																										SO:0001589	frameshift_variant	6903			U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"tubulin-specific chaperone c"			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.312dupT	6.37:g.42713507_42713507dupA	ENSP00000361967:p.Phe104fs		Q53Y43|Q5T787	Frame_Shift_Ins	INS	ENST00000372876.1	37	CCDS4872.1																																																																																				0.668	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		A	42713501	-	A	42713500	7	5	42	1	0	1	1	0	0	0	0	0	15636	1165	41	0	732	0	TBCC	6	42713500	Frame_Shift_Ins	INS	-	TCGA-A3-3313-01A-01D-0966-08	171839	42713500	128401567	43	3000											
ENPP4	22875	broad.mit.edu	37	6	46108939	46108940	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:46108939_46108940insA	ENST00000321037.4	+	3	1207_1208	c.977_978insA	c.(976-981)ctaaatfs	p.N327fs		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	327					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ACAATTGTGCTAAATGAATCAT	0.337																																																0																																										SO:0001589	frameshift_variant	22875			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.980dupA	6.37:g.46108942_46108942dupA	ENSP00000318066:p.Asn327fs		A8K5G1|Q7L2N1	Frame_Shift_Ins	INS	ENST00000321037.4	37	CCDS34468.1																																																																																				0.337	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			A	46108940	-	A	46108939	7	5	42	1	0	1	1	0	0	0	0	0	5134	1522	53	0	983	0	ENPP4	6	46108939	Frame_Shift_Ins	INS	-	TCGA-A3-3313-01A-01D-0966-08	3395439	46108939	125006128	44	3001											
GPR116	221395	broad.mit.edu	37	6	46823756	46823756	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:46823756T>A	ENST00000283296.7	-	20	4204	c.3916A>T	c.(3916-3918)Agt>Tgt	p.S1306C	GPR116_ENST00000362015.4_Missense_Mutation_p.S1286C|GPR116_ENST00000545669.1_Missense_Mutation_p.S735C|GPR116_ENST00000265417.7_Missense_Mutation_p.S1306C|GPR116_ENST00000456426.2_Missense_Mutation_p.S1164C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1306					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTGGAGAACTCATAGAAAAC	0.413																																					NSCLC(59;410 1274 8751 36715 50546)											0													54	49	50					6																	46823756		2203	4296	6499	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3916A>T	6.37:g.46823756T>A	ENSP00000283296:p.Ser1306Cys		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070909	0.76301	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.42	5.42	0.78866	.	0.174217	0.42294	D	0.000731	T	0.49660	0.1570	N	0.24115	0.695	0.35268	D	0.780227	P;P;D;D;D	0.89917	0.865;0.777;1.0;1.0;1.0	P;B;D;D;D	0.78314	0.593;0.199;0.991;0.989;0.991	T	0.61004	-0.7150	10	0.87932	D	0	-15.2887	14.0021	0.64439	0.0:0.0:0.0:1.0	.	735;861;1286;1164;1306	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	C	1306;1306;1286;1164;677;1306;735	ENSP00000283296:S1306C;ENSP00000354563:S1286C;ENSP00000412866:S1164C;ENSP00000265417:S1306C;ENSP00000441581:S735C	ENSP00000265417:S1306C	S	-	1	0	GPR116	46931715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.286000	0.51724	2.182000	0.69389	0.528000	0.53228	AGT		0.413	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		A	46823756	T	A	46823756	3	1	42	1	0	0	0	0	1	0	0	0	6635	1551	54	5	132	5	GPR116	6	46823756	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	714817	46823756	124291311	45	3002											
PKHD1	5314	broad.mit.edu	37	6	51637542	51637542	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:51637542G>A	ENST00000371117.3	-	55	8875	c.8600C>T	c.(8599-8601)tCc>tTc	p.S2867F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2867	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGTCCAGGAGTTCTTAGG	0.398																																																0													134	135	135					6																	51637542		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8600C>T	6.37:g.51637542G>A	ENSP00000360158:p.Ser2867Phe		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218140	0.58560	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90900	-2.75;-2.75	5.79	4.92	0.64577	G8 domain (2);	0.235877	0.37857	N	0.001907	D	0.89972	0.6870	M	0.63428	1.95	0.33873	D	0.63519	D;D;D	0.71674	0.998;0.996;0.994	D;P;D	0.70487	0.969;0.759;0.925	D	0.87225	0.2256	10	0.12103	T	0.63	.	12.1178	0.53875	0.0791:0.0:0.9209:0.0	.	2867;2867;2867	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	F	2867	ENSP00000360158:S2867F;ENSP00000341097:S2867F	ENSP00000341097:S2867F	S	-	2	0	PKHD1	51745501	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.463000	0.60128	1.445000	0.47624	0.591000	0.81541	TCC		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51637542	G	A	51637542	3	1	42	1	0	0	0	0	1	0	0	0	11973	1174	41	2	3715	2	PKHD1	6	51637542	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	4813786	51637542	119477525	46	3003											
SNX14	57231	broad.mit.edu	37	6	86223568	86223568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:86223568delT	ENST00000314673.3	-	26	2779	c.2603delA	c.(2602-2604)aagfs	p.K868fs	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs|SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	868					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCCTTTTTGCTTATCTTGGAG	0.303																																																0													89	91	90					6																	86223568		2203	4296	6499	SO:0001589	frameshift_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2603delA	6.37:g.86223568delT	ENSP00000313121:p.Lys868fs		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Frame_Shift_Del	DEL	ENST00000314673.3	37	CCDS5004.1																																																																																				0.303	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		-	86223568	T	-	86223568	7	5	42	1	0	1	0	1	0	0	0	0	14891	1609	56	0	253	0	SNX14	6	86223568	Frame_Shift_Del	DEL	T	TCGA-A3-3313-01A-01D-0966-08	34586026	86223568	84891499	47	3004											
GUSB	2990	broad.mit.edu	37	7	65429390	65429396	+	Frame_Shift_Del	DEL	TGGTACT	TGGTACT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:65429390_65429396delTGGTACT	ENST00000304895.4	-	11	1833_1839	c.1703_1709delAGTACCA	c.(1702-1710)cagtaccatfs	p.QYH568fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	568					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGACCCAGATGGTACTGCTCTAGCAG	0.435																																																0																																										SO:0001589	frameshift_variant	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1703_1709delAGTACCA	7.37:g.65429390_65429396delTGGTACT	ENSP00000302728:p.Gln568fs		B4E1F6|E9PCV0|Q549U0|Q96CL9	Frame_Shift_Del	DEL	ENST00000304895.4	37	CCDS5530.1																																																																																				0.435	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		-	65429396	TGGTACT	-	65429390	7	5	42	1	0	1	0	1	0	0	0	0	6904	1464	51	0	254	0	GUSB	7	65429390	Frame_Shift_Del	DEL	TGGTACT	TCGA-A3-3313-01A-01D-0966-08		65429390	93709273	48	3005											
ZNF789	285989	broad.mit.edu	37	7	99084134	99084134	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:99084134C>A	ENST00000331410.5	+	5	571	c.301C>A	c.(301-303)Cca>Aca	p.P101T	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGCTAACTCCAAAACAGAA	0.343																																																0													40	43	42					7																	99084134		2203	4300	6503	SO:0001583	missense	285989			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.301C>A	7.37:g.99084134C>A	ENSP00000331927:p.Pro101Thr		A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	C	0.726	-0.781622	0.02929	.	.	ENSG00000198556	ENST00000331410	T	0.05081	3.5	2.8	-1.69	0.08186	.	.	.	.	.	T	0.03959	0.0111	L	0.33485	1.01	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.42361	-0.9456	9	0.29301	T	0.29	.	3.4587	0.07524	0.0:0.3621:0.2053:0.4326	.	101	Q5FWF6	ZN789_HUMAN	T	101	ENSP00000331927:P101T	ENSP00000331927:P101T	P	+	1	0	ZNF789	98922070	0.001000	0.12720	0.004000	0.12327	0.041000	0.13682	0.202000	0.17295	-0.414000	0.07495	-0.827000	0.03088	CCA		0.343	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		A	99084134	C	A	99084134	3	1	42	1	0	0	0	0	1	0	0	0	18165	855	30	4	357	4	ZNF789	7	99084134	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	33654744	99084134	60054529	49	3006											
KIAA1549	57670	broad.mit.edu	37	7	138602905	138602905	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:138602905A>G	ENST00000422774.1	-	2	1515	c.1467T>C	c.(1465-1467)ccT>ccC	p.P489P	KIAA1549_ENST00000440172.1_Silent_p.P489P|KIAA1549_ENST00000242365.4_Silent_p.P439P			Q9HCM3	K1549_HUMAN	KIAA1549	489						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGGACGATAGGTCTGGAGG	0.458			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													35	35	35					7																	138602905		1932	4151	6083	SO:0001819	synonymous_variant	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1467T>C	7.37:g.138602905A>G			B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	CCDS56513.1																																																																																				0.458	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			G	138602905	A	G	138602905	2	3	42	1	0	0	0	0	0	0	0	1	8246	407	15	3		3	KIAA1549	7	138602905	Silent	SNP	A	TCGA-A3-3313-01A-01D-0966-08	39518771	138602905	20535758	50	3007											
MLL3	58508	broad.mit.edu	37	7	151842348	151842348	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:151842348G>T	ENST00000262189.6	-	54	14282	c.14064C>A	c.(14062-14064)acC>acA	p.T4688T	KMT2C_ENST00000485655.2_5'Flank|KMT2C_ENST00000355193.2_Silent_p.T4745T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4688	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGTATCGGAAGGTATAATTTT	0.483																																																0													83	73	76					7																	151842348		2203	4300	6503	SO:0001819	synonymous_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14064C>A	7.37:g.151842348G>T			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029600	0.19512	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.56108	0.1963	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55457	-0.8138	4	.	.	.	.	5.9035	0.18980	0.0749:0.1368:0.6466:0.1417	.	.	.	.	I	2249	.	.	L	-	1	0	MLL3	151473281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.620000	0.24403	2.607000	0.88179	0.655000	0.94253	CTT		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151842348	G	T	151842348	2	4	42	1	0	0	0	0	0	0	0	1	9624	987	35	4		4	MLL3	7	151842348	Silent	SNP	G	TCGA-A3-3313-01A-01D-0966-08	13239443	151842348	7296315	51	3008											
MCPH1	79648	broad.mit.edu	37	8	6266849	6266849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:6266849T>A	ENST00000344683.5	+	2	148	c.72T>A	c.(70-72)taT>taA	p.Y24*	RP11-115C21.2_ENST00000500118.2_RNA|RP11-115C21.2_ENST00000606853.1_RNA|MCPH1_ENST00000522905.1_Nonsense_Mutation_p.Y24*|RP11-115C21.2_ENST00000523225.1_RNA|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.Y24*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	24	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAGAAAATTATTCAAAGACAT	0.363																																					Colon(95;1448 1467 8277 34473 35819)											0													159	149	152					8																	6266849		1878	4110	5988	SO:0001587	stop_gained	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.72T>A	8.37:g.6266849T>A	ENSP00000342924:p.Tyr24*		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	T	36	5.690341	0.96793	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.13	1.41	0.22369	.	0.086750	0.48286	D	0.000188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.1867	7.6003	0.28073	0.0:0.2679:0.0:0.7321	.	.	.	.	X	24	.	ENSP00000342924:Y24X	Y	+	3	2	MCPH1	6254257	0.977000	0.34250	0.999000	0.59377	0.902000	0.53008	0.010000	0.13242	-0.018000	0.14079	0.482000	0.46254	TAT		0.363	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		A	6266849	T	A	6266849	4	1	42	1	0	0	0	0	0	1	0	0	9400	1500	52	5	78	5	MCPH1	8	6266849	Nonsense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08		6266849	140097173	52	3009	37	2									
MCPH1	79648	broad.mit.edu	37	8	6266851	6266851	+	Nonsense_Mutation	SNP	C	C	G	rs121434305		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:6266851C>G	ENST00000344683.5	+	2	150	c.74C>G	c.(73-75)tCa>tGa	p.S25*	RP11-115C21.2_ENST00000500118.2_RNA|RP11-115C21.2_ENST00000606853.1_RNA|MCPH1_ENST00000522905.1_Nonsense_Mutation_p.S25*|RP11-115C21.2_ENST00000523225.1_RNA|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.S25*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	25	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAAATTATTCAAAGACATTT	0.358																																					Colon(95;1448 1467 8277 34473 35819)											0			GRCh37	CM021634	MCPH1	M	rs121434305	C	stop/SER,stop/SER,stop/SER	0,3754		0,0,1877	157	147	150	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	74,74,74	5.1	1	8	dbSNP_132	150	1,8221		0,1,4110	no	stop-gained,stop-gained,stop-gained	MCPH1	NM_001172574.1,NM_001172575.1,NM_024596.3	,,	0,1,5987	GG,GC,CC		0.0122,0.0,0.0084	,,	25/611,25/563,25/836	6266851	1,11975	1877	4111	5988	SO:0001587	stop_gained	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.74C>G	8.37:g.6266851C>G	ENSP00000342924:p.Ser25*		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	C	37	6.350629	0.97498	0.0	1.22E-4	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.5541	16.0918	0.81094	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000342924:S25X	S	+	2	0	MCPH1	6254259	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.496000	0.73670	2.381000	0.81170	0.591000	0.81541	TCA		0.358	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		G	6266851	C	G	6266851	4	3	42	1	0	0	0	0	0	1	0	0	9400	838	29	4	80	4	MCPH1	8	6266851	Nonsense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	2	6266851	140097171	53	3010	37	2									
PSD3	23362	broad.mit.edu	37	8	18725291	18725291	+	Silent	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:18725291T>G	ENST00000327040.8	-	4	1629	c.1527A>C	c.(1525-1527)gcA>gcC	p.A509A	PSD3_ENST00000523619.1_Silent_p.A444A|PSD3_ENST00000440756.2_Silent_p.A509A	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	509					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGCCACCATCTGCAGACACAC	0.522																																																0													189	188	188					8																	18725291		2135	4246	6381	SO:0001819	synonymous_variant	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1527A>C	8.37:g.18725291T>G			A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	CCDS43720.1																																																																																				0.522	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		G	18725291	T	G	18725291	2	3	42	1	0	0	0	0	0	0	0	1	12653	1567	55	5		5	PSD3	8	18725291	Silent	SNP	T	TCGA-A3-3313-01A-01D-0966-08	12458440	18725291	127638731	54	3011											
PRKDC	5591	broad.mit.edu	37	8	48840368	48840368	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:48840368A>G	ENST00000314191.2	-	20	2278	c.2222T>C	c.(2221-2223)aTt>aCt	p.I741T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	741					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCGAGTTCAATGATGTTGTG	0.448								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											0													125	131	129					8																	48840368		2024	4172	6196	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2222T>C	8.37:g.48840368A>G	ENSP00000313420:p.Ile741Thr		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	A	16.46	3.129763	0.56721	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02863	4.2;4.13	5.35	5.35	0.76521	Armadillo-type fold (1);	0.225114	0.37809	N	0.001933	T	0.12178	0.0296	.	.	.	0.47584	D	0.999462	D;D;D	0.59357	0.985;0.975;0.975	P;P;P	0.59171	0.853;0.717;0.717	T	0.00200	-1.1927	9	0.87932	D	0	.	15.6202	0.76799	1.0:0.0:0.0:0.0	.	741;741;741	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	T	741	ENSP00000313420:I741T;ENSP00000345182:I741T	ENSP00000313420:I741T	I	-	2	0	PRKDC	49002921	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	8.655000	0.91098	2.145000	0.66743	0.460000	0.39030	ATT		0.448	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		G	48840368	A	G	48840368	3	3	42	1	0	0	0	0	1	0	0	0	12526	101	4	3	10431	3	PRKDC	8	48840368	Missense_Mutation	SNP	A	TCGA-A3-3313-01A-01D-0966-08	30115077	48840368	97523654	55	3012											
ZFHX4	79776	broad.mit.edu	37	8	77618806	77618806	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:77618806A>G	ENST00000521891.2	+	2	2931	c.2483A>G	c.(2482-2484)aAc>aGc	p.N828S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	828					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCCCAGAACATAGGCCTG	0.542										HNSCC(33;0.089)																																						0													17	17	17					8																	77618806		1986	4164	6150	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2483A>G	8.37:g.77618806A>G	ENSP00000430497:p.Asn828Ser		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614346	0.28712	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53206	0.66;0.66;0.63;0.63	4.91	4.91	0.64330	.	0.000000	0.47093	U	0.000251	T	0.61800	0.2376	L	0.52364	1.645	0.80722	D	1	D;D;D;B	0.67145	0.993;0.996;0.996;0.178	D;D;D;B	0.73380	0.956;0.98;0.98;0.234	T	0.60969	-0.7157	10	0.41790	T	0.15	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	828;828;828;828	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	828	ENSP00000430497:N828S;ENSP00000399605:N828S;ENSP00000050961:N828S;ENSP00000430848:N828S	ENSP00000050961:N828S	N	+	2	0	ZFHX4	77781361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.335000	0.79234	2.179000	0.69175	0.477000	0.44152	AAC		0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		G	77618806	A	G	77618806	3	3	42	1	0	0	0	0	1	0	0	0	17640	43	2	3	2485	3	ZFHX4	8	77618806	Missense_Mutation	SNP	A	TCGA-A3-3313-01A-01D-0966-08	28778438	77618806	68745216	56	3013											
MTDH	92140	broad.mit.edu	37	8	98731381	98731381	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:98731381T>C	ENST00000336273.3	+	10	1813	c.1485T>C	c.(1483-1485)acT>acC	p.T495T	MTDH_ENST00000519934.1_Silent_p.T439T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	495					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CCATAAGCACTAGTGATCCAG	0.413																																																0													84	89	87					8																	98731381		2203	4300	6503	SO:0001819	synonymous_variant	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1485T>C	8.37:g.98731381T>C			Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Silent	SNP	ENST00000336273.3	37	CCDS6274.1																																																																																				0.413	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			C	98731381	T	C	98731381	2	2	42	1	0	0	0	0	0	0	0	1	9919	1509	53	3		3	MTDH	8	98731381	Silent	SNP	T	TCGA-A3-3313-01A-01D-0966-08	21112575	98731381	47632641	57	3014											
UBR5	51366	broad.mit.edu	37	8	103341320	103341324	+	Frame_Shift_Del	DEL	TGTTA	TGTTA	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:103341320_103341324delTGTTA	ENST00000520539.1	-	11	1926_1930	c.1320_1324delTAACA	c.(1318-1326)aataacaagfs	p.NN440fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.NN440fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.NN434fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	440					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTCATACCTTGTTATTTTCTGTAG	0.327																																					Ovarian(131;96 1741 5634 7352 27489)											0																																										SO:0001589	frameshift_variant	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1320_1324delTAACA	8.37:g.103341320_103341324delTGTTA	ENSP00000429084:p.Asn440fs		B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	ENST00000520539.1	37	CCDS34933.1																																																																																				0.327	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		-	103341324	TGTTA	-	103341320	7	5	42	1	0	1	0	1	0	0	0	0	16910	1821	63	0	7271	0	UBR5	8	103341320	Frame_Shift_Del	DEL	TGTTA	TCGA-A3-3313-01A-01D-0966-08	4609939	103341320	43022702	58	3015											
TNFRSF11B	4982	broad.mit.edu	37	8	119938760	119938760	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:119938760G>C	ENST00000297350.4	-	4	1168	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	264	Death 1.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTATATCTTGGTCTTTGTTT	0.358																																																0													211	202	205					8																	119938760		2203	4299	6502	SO:0001583	missense	4982			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.790C>G	8.37:g.119938760G>C	ENSP00000297350:p.Gln264Glu		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210254	0.58343	.	.	ENSG00000164761	ENST00000297350	D	0.93307	-3.2	5.73	5.73	0.89815	DEATH-like (2);	0.145183	0.47093	D	0.000244	D	0.89904	0.6850	L	0.61218	1.895	0.39016	D	0.959648	P	0.39782	0.688	B	0.27262	0.078	D	0.89910	0.4051	9	.	.	.	-14.0254	14.7188	0.69289	0.0:0.0:0.8553:0.1447	.	264	O00300	TR11B_HUMAN	E	264	ENSP00000297350:Q264E	.	Q	-	1	0	TNFRSF11B	120007941	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.310000	0.72830	2.721000	0.93114	0.655000	0.94253	CAA		0.358	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			C	119938760	G	C	119938760	3	2	42	1	0	0	0	0	1	0	0	0	16290	1357	47	4	423	4	TNFRSF11B	8	119938760	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	16597440	119938760	26425262	59	3016											
KCNV2	169522	broad.mit.edu	37	9	2718621	2718621	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:2718621C>T	ENST00000382082.3	+	1	1120	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	294					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AGGGCGAGGGCGGCCCAGACC	0.682																																																0													28	30	29					9																	2718621		2200	4293	6493	SO:0001819	synonymous_variant	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.882C>T	9.37:g.2718621C>T			Q5T6X0	Silent	SNP	ENST00000382082.3	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.525113	0.00959	.	.	ENSG00000168263	ENST00000423608	.	.	.	4.93	-0.823	0.10815	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38200	-0.9672	5	0.72032	D	0.01	.	4.4691	0.11703	0.1117:0.4057:0.3593:0.1233	.	.	.	.	W	245	.	ENSP00000409635:R245W	R	+	1	2	KCNV2	2708621	0.002000	0.14202	0.042000	0.18584	0.071000	0.16799	0.016000	0.13377	-0.149000	0.11215	0.563000	0.77884	CGG		0.682	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		T	2718621	C	T	2718621	2	4	42	1	0	0	0	0	0	0	0	1	8097	755	27	1		1	KCNV2	9	2718621	Silent	SNP	C	TCGA-A3-3313-01A-01D-0966-08		2718621	138494810	60	3017											
ZNF484	83744	broad.mit.edu	37	9	95610604	95610604	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:95610604A>G	ENST00000375495.3	-	5	613	c.465T>C	c.(463-465)taT>taC	p.Y155Y	ZNF484_ENST00000395505.2_Silent_p.Y119Y|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Silent_p.Y157Y|ZNF484_ENST00000332591.6_Silent_p.Y119Y	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CAATGTCCTTATATTCAAAGA	0.373																																																0													222	215	217					9																	95610604		2203	4300	6503	SO:0001819	synonymous_variant	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.465T>C	9.37:g.95610604A>G			B1AL89|B4DRI2	Silent	SNP	ENST00000375495.3	37	CCDS35066.1																																																																																				0.373	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		G	95610604	A	G	95610604	2	3	42	1	0	0	0	0	0	0	0	1	17942	456	16	3		3	ZNF484	9	95610604	Silent	SNP	A	TCGA-A3-3313-01A-01D-0966-08	92891983	95610604	45602827	61	3018											
TDRD7	23424	broad.mit.edu	37	9	100249509	100249509	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:100249509G>A	ENST00000355295.4	+	16	3266	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	TDRD7_ENST00000540902.1_Missense_Mutation_p.E311K|TDRD7_ENST00000422139.2_Missense_Mutation_p.E917K	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	991	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATCTGTGTATGAGCTGGATTA	0.418																																																0													138	132	134					9																	100249509		2203	4300	6503	SO:0001583	missense	23424			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2971G>A	9.37:g.100249509G>A	ENSP00000347444:p.Glu991Lys		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421740	0.96111	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.09350	2.99;2.99;2.99	5.75	5.75	0.90469	Maternal tudor protein (1);	0.045522	0.85682	D	0.000000	T	0.29288	0.0729	L	0.57536	1.79	0.54753	D	0.999984	D;D	0.71674	0.965;0.998	P;D	0.67103	0.814;0.949	T	0.00088	-1.2090	10	0.29301	T	0.29	-32.4999	18.8901	0.92397	0.0:0.0:1.0:0.0	.	311;991	Q8NHU6-3;Q8NHU6	.;TDRD7_HUMAN	K	991;917;311	ENSP00000347444:E991K;ENSP00000413608:E917K;ENSP00000440717:E311K	ENSP00000347444:E991K	E	+	1	0	TDRD7	99289330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG		0.418	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		A	100249509	G	A	100249509	3	1	42	1	0	0	0	0	1	0	0	0	15740	1291	45	2	3029	2	TDRD7	9	100249509	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	4638905	100249509	40963922	62	3019											
EHMT1	79813	broad.mit.edu	37	9	140611120	140611120	+	Missense_Mutation	SNP	C	C	G	rs386739686|rs79514677	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:140611120C>G	ENST00000460843.1	+	3	155	c.128C>G	c.(127-129)gCa>gGa	p.A43G	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.A12G|EHMT1_ENST00000462484.1_Missense_Mutation_p.A43G	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	43			A -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.A12V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAGAAACAGGCAGGAGAGGCC	0.562													c|||	116	0.0231629	0.0817	0.0086	5008	,	,		17796	0.0		0.002	False		,,,				2504	0.0															1	Substitution - Missense(1)	breast(1)							GLY/ALA,GLY/ALA	284,4122	143.1+/-178.2	17,250,1936	82	84	83		128,128	1.7	0.1	9	dbSNP_131	83	6,8590	3.0+/-9.4	0,6,4292	yes	missense,missense	EHMT1	NM_001145527.1,NM_024757.4	60,60	17,256,6228	GG,GC,CC		0.0698,6.4458,2.2304	benign,benign	43/809,43/1299	140611120	290,12712	2203	4298	6501	SO:0001583	missense	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.128C>G	9.37:g.140611120C>G	ENSP00000417980:p.Ala43Gly		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	CCDS7050.2	45	0.020604395604395604	42	0.08536585365853659	3	0.008287292817679558	0	0.0	0	0.0	c	7.126	0.578990	0.13686	0.064458	6.98E-4	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.69435	1.68;0.95;-0.4	5.61	1.67	0.24075	.	0.289408	0.28577	N	0.014860	T	0.00784	0.0026	N	0.00347	-1.61	0.09310	N	0.999993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.12553	-1.0543	10	0.15952	T	0.53	.	2.6562	0.05013	0.0941:0.341:0.2974:0.2674	.	43;12;43	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	G	12;12;43;43	ENSP00000334476:A12G;ENSP00000417328:A43G;ENSP00000417980:A43G	ENSP00000334476:A12G	A	+	2	0	EHMT1	139730941	0.494000	0.26043	0.069000	0.20011	0.980000	0.70556	0.641000	0.24720	0.049000	0.15920	0.546000	0.68486	GCA		0.562	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		G	140611120	C	G	140611120	3	3	42	1	0	0	0	0	1	0	0	0	4985	710	25	4	138	4	EHMT1	9	140611120	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	40361611	140611120	602311	63	3020											
DIP2C	22982	broad.mit.edu	37	10	355983	355983	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:355983A>T	ENST00000280886.6	-	32	4061	c.3974T>A	c.(3973-3975)cTg>cAg	p.L1325Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1325						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCGTGTCTCAGGGCTCTCAT	0.473																																																0													172	150	157					10																	355983		2203	4300	6503	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3974T>A	10.37:g.355983A>T	ENSP00000280886:p.Leu1325Gln		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920316	0.73098	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.44083	0.93	5.19	5.19	0.71726	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000002	T	0.65749	0.2721	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70901	-0.4746	10	0.87932	D	0	-19.515	15.0011	0.71473	1.0:0.0:0.0:0.0	.	1325	Q9Y2E4	DIP2C_HUMAN	Q	1325;250	ENSP00000280886:L1325Q	ENSP00000280886:L1325Q	L	-	2	0	DIP2C	345983	1.000000	0.71417	0.993000	0.49108	0.679000	0.39708	8.241000	0.89816	2.083000	0.62718	0.482000	0.46254	CTG		0.473	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	355983	A	T	355983	3	4	42	1	0	0	0	0	1	0	0	0	4531	188	7	5	720	5	DIP2C	10	355983	Missense_Mutation	SNP	A	TCGA-A3-3313-01A-01D-0966-08		355983	135178764	64	3021											
HTR7	3363	broad.mit.edu	37	10	92616929	92616929	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:92616929G>A	ENST00000336152.3	-	1	526	c.500C>T	c.(499-501)aCg>aTg	p.T167M	HTR7_ENST00000371719.2_Missense_Mutation_p.T167M|HTR7_ENST00000371721.3_Missense_Mutation_p.T167M|HTR7_ENST00000277874.6_Missense_Mutation_p.T167M	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	167					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCGAGGCCGTGCAGCACAT	0.617																																																0													50	37	42					10																	92616929		2203	4300	6503	SO:0001583	missense	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.500C>T	10.37:g.92616929G>A	ENSP00000337949:p.Thr167Met		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103133	0.94245	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70861	-0.4757	10	0.87932	D	0	.	18.2215	0.89903	0.0:0.0:1.0:0.0	.	167;167	P34969;P34969-2	5HT7R_HUMAN;.	M	167	ENSP00000337949:T167M;ENSP00000277874:T167M;ENSP00000360784:T167M;ENSP00000360786:T167M	ENSP00000277874:T167M	T	-	2	0	HTR7	92606909	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.866000	0.99616	2.309000	0.77851	0.563000	0.77884	ACG		0.617	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		A	92616929	G	A	92616929	3	1	42	1	0	0	0	0	1	0	0	0	7454	1145	40	1	959	1	HTR7	10	92616929	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	92260946	92616929	42917818	65	3022											
SLIT1	6585	broad.mit.edu	37	10	98817000	98817000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:98817000C>T	ENST00000266058.4	-	12	1369	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	375					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAAACACACCACGGGGGAG	0.567																																																0													96	86	89					10																	98817000		2203	4300	6503	SO:0001583	missense	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1124G>A	10.37:g.98817000C>T	ENSP00000266058:p.Gly375Asp		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830854	0.91036	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008	T;T;T	0.58652	0.32;0.32;0.32	5.73	5.73	0.89815	.	0.050832	0.85682	D	0.000000	T	0.68997	0.3062	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.992;0.974	T	0.70457	-0.4866	10	0.66056	D	0.02	.	19.4934	0.95062	0.0:1.0:0.0:0.0	.	385;375	E7EWQ8;O75093	.;SLIT1_HUMAN	D	375;385;351;375;368;351	ENSP00000266058:G375D;ENSP00000360109:G375D;ENSP00000315005:G368D	ENSP00000266058:G375D	G	-	2	0	SLIT1	98806990	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.361000	0.79497	2.713000	0.92767	0.655000	0.94253	GGT		0.567	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		T	98817000	C	T	98817000	3	4	42	1	0	0	0	0	1	0	0	0	14745	507	18	2	3584	2	SLIT1	10	98817000	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	6200071	98817000	36717747	66	3023											
TACC2	10579	broad.mit.edu	37	10	123984267	123984267	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:123984267A>G	ENST00000369005.1	+	12	7913	c.7573A>G	c.(7573-7575)Att>Gtt	p.I2525V	TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000513429.1_Missense_Mutation_p.I671V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2525					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCCTATGAAATTGAATATAT	0.443																																																0													132	153	146					10																	123984267		2203	4300	6503	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7573A>G	10.37:g.123984267A>G	ENSP00000358001:p.Ile2525Val		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277758	0.80692	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.27256	3.56;3.19;3.6;3.53;3.56;3.19;3.6;1.68;1.68;3.03;2.99;2.94;3.06;2.65;1.87	5.5	5.5	0.81552	.	0.000000	0.37393	N	0.002117	T	0.44603	0.1301	L	0.53249	1.67	0.45676	D	0.998595	D;D;P;D;D;D;D;D;D;D	0.71674	0.998;0.983;0.943;0.992;0.983;0.995;0.99;0.99;0.99;0.992	D;D;D;D;D;D;D;D;D;D	0.81914	0.995;0.977;0.946;0.99;0.977;0.99;0.99;0.99;0.99;0.992	T	0.19031	-1.0318	10	0.20046	T	0.44	-4.5936	15.6011	0.76626	1.0:0.0:0.0:0.0	.	620;2529;615;2480;2529;603;603;225;671;2525	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2525;671;2529;2480;2525;671;2529;2515;229;225;603;615;615;603;620;260;136	ENSP00000358001:I2525V;ENSP00000425062:I671V;ENSP00000424467:I2529V;ENSP00000427618:I2480V;ENSP00000334280:I2525V;ENSP00000350701:I671V;ENSP00000395048:I2529V;ENSP00000357997:I229V;ENSP00000357996:I225V;ENSP00000353763:I603V;ENSP00000357995:I615V;ENSP00000422815:I615V;ENSP00000260733:I603V;ENSP00000420967:I620V;ENSP00000422725:I260V	ENSP00000260733:I603V	I	+	1	0	TACC2	123974257	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	7.603000	0.82811	2.078000	0.62432	0.533000	0.62120	ATT		0.443	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			G	123984267	A	G	123984267	3	3	42	1	0	0	0	0	1	0	0	0	15507	101	4	3	7687	3	TACC2	10	123984267	Missense_Mutation	SNP	A	TCGA-A3-3313-01A-01D-0966-08	25167267	123984267	11550480	67	3024											
CTBP2	1488	broad.mit.edu	37	10	126682552	126682552	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:126682552C>T	ENST00000337195.5	-	8	1182	c.783G>A	c.(781-783)atG>atA	p.M261I	CTBP2_ENST00000531469.1_Missense_Mutation_p.M261I|CTBP2_ENST00000411419.2_Missense_Mutation_p.M261I|CTBP2_ENST00000334808.6_Missense_Mutation_p.M329I|CTBP2_ENST00000309035.6_Missense_Mutation_p.M801I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M261I	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	261					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCCCTGCCTCATCTGTGGAA	0.547																																																0													69	72	71					10																	126682552		2201	4300	6501	SO:0001583	missense	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.783G>A	10.37:g.126682552C>T	ENSP00000338615:p.Met261Ile		A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200853	0.94997	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.93	4.93	0.64822	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90793	0.7109	M	0.80847	2.515	0.58432	D	0.999999	P;P;P	0.51449	0.945;0.926;0.89	P;P;P	0.61800	0.841;0.894;0.732	D	0.92237	0.5797	10	0.87932	D	0	.	18.1466	0.89659	0.0:1.0:0.0:0.0	.	261;801;329	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	I	261;801;329;261;261;261	ENSP00000338615:M261I;ENSP00000311825:M801I;ENSP00000357816:M329I;ENSP00000434630:M261I;ENSP00000436285:M261I;ENSP00000410474:M261I	ENSP00000311825:M801I	M	-	3	0	CTBP2	126672542	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.479000	0.81095	2.276000	0.75962	0.561000	0.74099	ATG		0.547	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		T	126682552	C	T	126682552	3	4	42	1	0	0	0	0	1	0	0	0	4000	826	29	2	570	2	CTBP2	10	126682552	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	2698285	126682552	8852195	68	3025											
SYCE1	93426	broad.mit.edu	37	10	135370646	135370646	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:135370646A>G	ENST00000343131.5	-	7	493	c.389T>C	c.(388-390)tTg>tCg	p.L130S	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.L94S|SYCE1_ENST00000432597.2_Missense_Mutation_p.L94S	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	130					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCACTCCTGCAACATGGTGTG	0.547																																																0													229	217	221					10																	135370646		2203	4300	6503	SO:0001583	missense	93426			AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.389T>C	10.37:g.135370646A>G	ENSP00000341282:p.Leu130Ser		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	A	8.244	0.807591	0.16467	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.27890	1.64;3.26;3.26;3.26	4.3	4.3	0.51218	.	0.114911	0.37219	N	0.002193	T	0.33760	0.0874	L	0.28274	0.84	0.21652	N	0.99961	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.976;0.965	T	0.14783	-1.0460	10	0.06099	T	0.92	-3.2344	10.1326	0.42687	1.0:0.0:0.0:0.0	.	2;130;94	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	S	130;94;94;130	ENSP00000303978:L130S;ENSP00000411779:L94S;ENSP00000357503:L94S;ENSP00000341282:L130S	ENSP00000303978:L130S	L	-	2	0	SYCE1	135220636	0.373000	0.25073	0.460000	0.27093	0.362000	0.29581	1.915000	0.39976	2.172000	0.68678	0.533000	0.62120	TTG		0.547	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		G	135370646	A	G	135370646	3	3	42	1	0	0	0	0	1	0	0	0	15433	131	5	3	737	3	SYCE1	10	135370646	Missense_Mutation	SNP	A	TCGA-A3-3313-01A-01D-0966-08	8688094	135370646	164101	69	3026											
LRDD	55367	broad.mit.edu	37	11	804239	804239	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:804239C>T	ENST00000347755.5	-	2	291	c.150G>A	c.(148-150)ctG>ctA	p.L50L	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L50L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					ACAGGTGCAGCAGCTGCTGGC	0.657																																																0													22	24	24					11																	804239		2199	4294	6493	SO:0001819	synonymous_variant	55367																														ENST00000347755.5:c.150G>A	11.37:g.804239C>T				Silent	SNP	ENST00000347755.5	37	CCDS7716.1																																																																																				0.657	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			T	804239	C	T	804239	2	4	42	1	0	0	0	0	0	0	0	1	8938	697	25	2		2	LRDD	11	804239	Silent	SNP	C	TCGA-A3-3313-01A-01D-0966-08		804239	134202277	70	3027											
SAAL1	113174	broad.mit.edu	37	11	18124827	18124828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:18124827_18124828insT	ENST00000524803.1	-	2	250_251	c.201_202insA	c.(199-204)gaagaafs	p.E68fs	SAAL1_ENST00000529318.1_Frame_Shift_Ins_p.E68fs|SAAL1_ENST00000300013.4_Frame_Shift_Ins_p.E68fs|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	68										breast(2)|large_intestine(5)|lung(8)	15						TTCTCCATTTCTTCATCAAGCT	0.401																																																0																																										SO:0001589	frameshift_variant	113174			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.202dupA	11.37:g.18124829_18124829dupT	ENSP00000432487:p.Glu68fs		A6NH05	Frame_Shift_Ins	INS	ENST00000524803.1	37	CCDS31439.1																																																																																				0.401	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		T	18124828	-	T	18124827	7	5	42	1	0	1	1	0	0	0	0	0	13807	922	32	0	1266	0	SAAL1	11	18124827	Frame_Shift_Ins	INS	-	TCGA-A3-3313-01A-01D-0966-08	17320588	18124827	116881689	71	3028											
NUMA1	4926	broad.mit.edu	37	11	71733393	71733393	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:71733393T>C	ENST00000393695.3	-	7	695	c.364A>G	c.(364-366)Aaa>Gaa	p.K122E	NUMA1_ENST00000351960.6_Missense_Mutation_p.K122E|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.K122E	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACCTGAATTTTATATTCAAAC	0.483			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													171	177	175					11																	71733393		2200	4293	6493	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.364A>G	11.37:g.71733393T>C	ENSP00000377298:p.Lys122Glu			Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821538	0.71028	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.03	3.9	0.45041	.	0.232422	0.36303	N	0.002661	T	0.32734	0.0839	L	0.55481	1.735	0.22629	N	0.998914	B;P;P;B;B;B	0.40731	0.204;0.728;0.728;0.447;0.287;0.03	B;B;B;B;B;B	0.33521	0.165;0.164;0.164;0.117;0.124;0.055	T	0.28650	-1.0037	10	0.52906	T	0.07	.	8.2624	0.31793	0.0:0.1672:0.0:0.8328	.	122;122;122;122;122;122	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	E	122	ENSP00000260051:K122E;ENSP00000351851:K122E;ENSP00000377298:K122E;ENSP00000444880:K122E;ENSP00000442936:K122E;ENSP00000442761:K122E;ENSP00000439759:K122E;ENSP00000438821:K122E;ENSP00000438589:K122E;ENSP00000439092:K122E;ENSP00000444175:K122E	ENSP00000260051:K122E	K	-	1	0	NUMA1	71411041	0.997000	0.39634	0.998000	0.56505	0.994000	0.84299	0.865000	0.27940	1.054000	0.40438	0.533000	0.62120	AAA		0.483	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			C	71733393	T	C	71733393	3	2	42	1	0	0	0	0	1	0	0	0	10752	1763	61	3	6067	3	NUMA1	11	71733393	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	53608566	71733393	63273123	72	3029											
ODZ4	26011	broad.mit.edu	37	11	78369474	78369474	+	Missense_Mutation	SNP	C	C	T	rs184305763		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:78369474C>T	ENST00000278550.7	-	34	8401	c.7939G>A	c.(7939-7941)Gtc>Atc	p.V2647I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2647					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.V2647I(2)									GACACAGTGACGTTGACCCCA	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21367	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	breast(2)											73	76	75					11																	78369474		2112	4241	6353	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7939G>A	11.37:g.78369474C>T	ENSP00000278550:p.Val2647Ile		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.8	4.208994	0.79240	.	.	ENSG00000149256	ENST00000278550	D	0.90732	-2.72	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.93822	0.8024	L	0.51914	1.62	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	D	0.92205	0.5771	9	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	2647	Q6N022	TEN4_HUMAN	I	2647	ENSP00000278550:V2647I	.	V	-	1	0	ODZ4	78047122	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	5.891000	0.69782	2.941000	0.99782	0.655000	0.94253	GTC		0.562	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			T	78369474	C	T	78369474	3	4	42	1	0	0	0	0	1	0	0	0	10839	536	19	1	374	1	ODZ4	11	78369474	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	6636081	78369474	56637042	73	3030											
CUL5	8065	broad.mit.edu	37	11	107940858	107940859	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:107940858_107940859delAT	ENST00000393094.2	+	8	1432_1433	c.816_817delAT	c.(814-819)tcatttfs	p.F273fs		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	273					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGGTGACATCATTTAAAGAGAC	0.347																																																0																																										SO:0001589	frameshift_variant	8065			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.816_817delAT	11.37:g.107940858_107940859delAT	ENSP00000376808:p.Phe273fs		A8K960|O14766|Q9BZC6	Frame_Shift_Del	DEL	ENST00000393094.2	37	CCDS31668.1																																																																																				0.347	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			-	107940859	AT	-	107940858	7	5	42	1	0	1	0	1	0	0	0	0	4061	204	8	0	846	0	CUL5	11	107940858	Frame_Shift_Del	DEL	AT	TCGA-A3-3313-01A-01D-0966-08	29571384	107940858	27065658	74	3031											
SIK3	23387	broad.mit.edu	37	11	116968939	116968939	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:116968939A>T	ENST00000292055.4	-	1	54	c.19T>A	c.(19-21)Tac>Aac	p.Y7N	SIK3_ENST00000434315.2_5'UTR|AP000936.4_ENST00000442124.1_RNA|SIK3_ENST00000375300.1_Missense_Mutation_p.Y65N|SIK3_ENST00000446921.2_Missense_Mutation_p.Y65N|SIK3_ENST00000542607.1_Missense_Mutation_p.Y7N|SIK3_ENST00000375288.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	7					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCTCGTAGTAGCCGATACGG	0.751																																																0													18	16	17					11																	116968939		2160	4256	6416	SO:0001583	missense	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.19T>A	11.37:g.116968939A>T	ENSP00000292055:p.Tyr7Asn		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.28|10.28	1.305308|1.305308	0.23736|0.23736	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000542607	.|T;T;T	.|0.21031	.|2.03;2.03;2.03	2.67|2.67	2.67|2.67	0.31697|0.31697	.|Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.06280|0.06280	0.0162|0.0162	N|N	0.00985|0.00985	-1.075|-1.075	0.80722|0.80722	D|D	1|1	.|B;B	.|0.19583	.|0.037;0.003	.|B;B	.|0.20384	.|0.029;0.004	T|T	0.23726|0.23726	-1.0180|-1.0180	5|9	.|0.12430	.|T	.|0.62	.|.	9.8317|9.8317	0.40946|0.40946	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|7;7	.|A1A5A8;Q9Y2K2	.|.;SIK3_HUMAN	Q|N	58;29|65;7;7	.|ENSP00000364449:Y65N;ENSP00000292055:Y7N;ENSP00000438108:Y7N	.|ENSP00000292055:Y7N	L|Y	-|-	2|1	0|0	SIK3|SIK3	116474149|116474149	1.000000|1.000000	0.71417|0.71417	0.369000|0.369000	0.25952|0.25952	0.017000|0.017000	0.09413|0.09413	1.717000|1.717000	0.37991|0.37991	1.239000|1.239000	0.43787|0.43787	0.378000|0.378000	0.23410|0.23410	CTA|TAC		0.751	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		T	116968939	A	T	116968939	3	4	42	1	0	0	0	0	1	0	0	0	14325	420	15	5	3864	5	SIK3	11	116968939	Missense_Mutation	SNP	A	TCGA-A3-3313-01A-01D-0966-08	9028081	116968939	18037577	75	3032											
ARHGAP32	9743	broad.mit.edu	37	11	128840160	128840160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:128840160G>A	ENST00000310343.9	-	22	4905	c.4906C>T	c.(4906-4908)Cag>Tag	p.Q1636*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1636	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCTGAAGCTGAGTGACATGA	0.502																																																0													93	88	90					11																	128840160		2201	4297	6498	SO:0001587	stop_gained	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4906C>T	11.37:g.128840160G>A	ENSP00000310561:p.Gln1636*		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	41	8.637801	0.98895	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	.	.	.	X	1636;1287;1287	.	ENSP00000310561:Q1636X	Q	-	1	0	ARHGAP32	128345370	1.000000	0.71417	0.990000	0.47175	0.882000	0.50991	9.422000	0.97458	2.779000	0.95612	0.655000	0.94253	CAG		0.502	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		A	128840160	G	A	128840160	4	1	42	1	0	0	0	0	0	1	0	0	881	1299	45	2	1361	2	ARHGAP32	11	128840160	Nonsense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	11871221	128840160	6166356	76	3033											
WBP11	51729	broad.mit.edu	37	12	14947533	14947533	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:14947533C>G	ENST00000261167.2	-	7	892	c.659G>C	c.(658-660)gGt>gCt	p.G220A		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	220	Interaction with PP1. {ECO:0000250}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TAGGGCAAAACCCACTTTACG	0.502																																																0													184	191	189					12																	14947533		2203	4300	6503	SO:0001583	missense	51729			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.659G>C	12.37:g.14947533C>G	ENSP00000261167:p.Gly220Ala		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723796	0.48728	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000006	T	0.58892	0.2154	M	0.66939	2.045	0.44018	D	0.996734	B	0.27068	0.167	B	0.13407	0.009	T	0.61098	-0.7131	9	0.44086	T	0.13	-7.329	14.7645	0.69629	0.0:1.0:0.0:0.0	.	220	Q9Y2W2	WBP11_HUMAN	A	220	.	ENSP00000261167:G220A	G	-	2	0	WBP11	14838800	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.985000	0.56930	2.437000	0.82529	0.655000	0.94253	GGT		0.502	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		G	14947533	C	G	14947533	3	3	42	1	0	0	0	0	1	0	0	0	17263	507	18	4	1290	4	WBP11	12	14947533	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08		14947533	118904362	77	3034											
AVIL	10677	broad.mit.edu	37	12	58207197	58207197	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:58207197C>A	ENST00000257861.3	-	3	581	c.151G>T	c.(151-153)Gtg>Ttg	p.V51L	RP11-571M6.18_ENST00000602327.1_lincRNA|AVIL_ENST00000537081.1_Missense_Mutation_p.V44L	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	51	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTGGCCACTCTCCGGGTC	0.577																																																0													62	58	59					12																	58207197		2203	4300	6503	SO:0001583	missense	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.151G>T	12.37:g.58207197C>A	ENSP00000257861:p.Val51Leu		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761300	0.15914	.	.	ENSG00000135407	ENST00000537081;ENST00000257861;ENST00000549994	T;T;T	0.16743	2.32;2.32;2.32	4.73	2.73	0.32206	Gelsolin domain (1);	1.054110	0.07372	N	0.885912	T	0.17874	0.0429	L	0.41124	1.26	0.22610	N	0.998936	B;B;B	0.19445	0.001;0.001;0.036	B;B;B	0.32211	0.009;0.006;0.142	T	0.38802	-0.9644	10	0.17832	T	0.49	-3.6266	10.7575	0.46245	0.5232:0.4768:0.0:0.0	.	44;51;51	O75366-2;F8VVU1;O75366	.;.;AVIL_HUMAN	L	44;51;51	ENSP00000443207:V44L;ENSP00000257861:V51L;ENSP00000449239:V51L	ENSP00000257861:V51L	V	-	1	0	AVIL	56493464	0.034000	0.19679	0.982000	0.44146	0.542000	0.35054	0.313000	0.19415	1.317000	0.45149	0.655000	0.94253	GTG		0.577	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		A	58207197	C	A	58207197	3	1	42	1	0	0	0	0	1	0	0	0	1227	565	20	4	2376	4	AVIL	12	58207197	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	43259664	58207197	75644698	78	3035											
LRIG3	121227	broad.mit.edu	37	12	59284527	59284527	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:59284527C>G	ENST00000320743.3	-	4	721	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	145					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCAAGGGACTGAAACTCTT	0.388			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													89	88	88					12																	59284527		2203	4300	6503	SO:0001583	missense	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.435G>C	12.37:g.59284527C>G	ENSP00000326759:p.Gln145His		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900963	0.33535	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.10099	2.91;2.91;2.91	5.87	-10.7	0.00240	.	0.000000	0.34932	N	0.003566	T	0.11153	0.0272	L	0.48935	1.535	0.25947	N	0.982799	B;D	0.54397	0.014;0.966	B;P	0.55161	0.038;0.77	T	0.06625	-1.0816	9	.	.	.	.	8.9497	0.35781	0.1688:0.2603:0.0:0.5709	.	85;145	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	H	85;145;52	ENSP00000368436:Q85H;ENSP00000326759:Q145H;ENSP00000449109:Q52H	.	Q	-	3	2	LRIG3	57570794	0.000000	0.05858	0.276000	0.24689	0.989000	0.77384	-2.932000	0.00688	-2.071000	0.00880	-0.290000	0.09829	CAG		0.388	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		G	59284527	C	G	59284527	3	3	42	1	0	0	0	0	1	0	0	0	8948	564	20	4	2988	4	LRIG3	12	59284527	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	1077330	59284527	74567368	79	3036											
POC1B	282809	broad.mit.edu	37	12	89818965	89818965	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:89818965A>C	ENST00000313546.3	-	11	1433	c.1305T>G	c.(1303-1305)atT>atG	p.I435M	POC1B_ENST00000549035.1_Missense_Mutation_p.I393M|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000393179.4_Missense_Mutation_p.I305M	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	435					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GTTGTTCCATAATATGCTCTA	0.433																																																0													214	169	184					12																	89818965		2203	4300	6503	SO:0001583	missense	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1305T>G	12.37:g.89818965A>C	ENSP00000323302:p.Ile435Met		G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.424392	0.43020	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	T;T;T	0.70749	-0.51;-0.51;-0.51	5.8	-6.84	0.01687	.	0.119867	0.56097	D	0.000035	T	0.76492	0.3995	L	0.59436	1.845	0.44194	D	0.99701	D	0.76494	0.999	D	0.80764	0.994	T	0.79541	-0.1761	10	0.52906	T	0.07	.	16.0563	0.80809	0.3656:0.0:0.6344:0.0	.	435	Q8TC44	POC1B_HUMAN	M	305;435;393	ENSP00000376877:I305M;ENSP00000323302:I435M;ENSP00000447916:I393M	ENSP00000323302:I435M	I	-	3	3	POC1B	88343096	0.010000	0.17322	0.691000	0.30163	0.155000	0.21991	-1.800000	0.01744	-1.208000	0.02634	-0.371000	0.07208	ATT		0.433	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		C	89818965	A	C	89818965	3	2	42	1	0	0	0	0	1	0	0	0	12178	358	13	5	139	5	POC1B	12	89818965	Missense_Mutation	SNP	A	TCGA-A3-3313-01A-01D-0966-08	30534438	89818965	44032930	80	3037											
VPS33A	65082	broad.mit.edu	37	12	122723269	122723269	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:122723269G>T	ENST00000267199.4	-	10	1279	c.1167C>A	c.(1165-1167)gtC>gtA	p.V389V	RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	389					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGTAATTGTTGACCTGGAAAT	0.383																																																0													139	124	129					12																	122723269		2203	4300	6503	SO:0001819	synonymous_variant	65082			AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"vacuolar protein sorting 33A (yeast)"			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1167C>A	12.37:g.122723269G>T			Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	CCDS9231.1																																																																																				0.383	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			T	122723269	G	T	122723269	2	4	42	1	0	0	0	0	0	0	0	1	17206	1277	45	4		4	VPS33A	12	122723269	Silent	SNP	G	TCGA-A3-3313-01A-01D-0966-08	32904304	122723269	11128626	81	3038											
RNF6	6049	broad.mit.edu	37	13	26789216	26789216	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:26789216C>A	ENST00000381588.4	-	5	1555	c.803G>T	c.(802-804)aGg>aTg	p.R268M	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.R268M|RNF6_ENST00000381570.3_Missense_Mutation_p.R268M|RNF6_ENST00000399762.2_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	268					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTCCCTTTGCCTGAGTTCACT	0.458																																																0													174	161	165					13																	26789216		2203	4300	6503	SO:0001583	missense	6049			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.803G>T	13.37:g.26789216C>A	ENSP00000371000:p.Arg268Met		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083104	0.36758	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.09445	2.98;2.98;2.98	5.16	3.27	0.37495	.	0.427965	0.23589	N	0.046569	T	0.11110	0.0271	L	0.59436	1.845	0.80722	D	1	B	0.25667	0.131	B	0.21546	0.035	T	0.06250	-1.0837	10	0.62326	D	0.03	-6.7297	6.8861	0.24202	0.3114:0.5993:0.0:0.0893	.	268	Q9Y252	RNF6_HUMAN	M	268	ENSP00000342121:R268M;ENSP00000371000:R268M;ENSP00000370982:R268M	ENSP00000342121:R268M	R	-	2	0	RNF6	25687216	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.047000	0.41269	1.392000	0.46585	0.557000	0.71058	AGG		0.458	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		A	26789216	C	A	26789216	3	1	42	1	0	0	0	0	1	0	0	0	13504	681	24	4	1258	4	RNF6	13	26789216	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08		26789216	88380662	82	3039											
TRPC4	7223	broad.mit.edu	37	13	38357441	38357441	+	Silent	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:38357441A>C	ENST00000379705.3	-	2	887	c.30T>G	c.(28-30)gtT>gtG	p.V10V	TRPC4_ENST00000355779.2_Silent_p.V10V|TRPC4_ENST00000447043.1_Silent_p.V10V|TRPC4_ENST00000426868.2_Silent_p.V10V|TRPC4_ENST00000379681.3_Silent_p.V10V|TRPC4_ENST00000358477.2_Silent_p.V10V|TRPC4_ENST00000379679.1_Silent_p.V10V|TRPC4_ENST00000379673.2_Silent_p.V10V|TRPC4_ENST00000338947.5_Silent_p.V10V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	10					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGGAGCATTAACATTTCTTT	0.388																																																0													93	89	90					13																	38357441		2203	4300	6503	SO:0001819	synonymous_variant	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.30T>G	13.37:g.38357441A>C			B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																				0.388	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		C	38357441	A	C	38357441	2	2	42	1	0	0	0	0	0	0	0	1	16585	349	13	5		5	TRPC4	13	38357441	Silent	SNP	A	TCGA-A3-3313-01A-01D-0966-08	11568225	38357441	76812437	83	3040											
MYCBP2	23077	broad.mit.edu	37	13	77798620	77798620	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:77798620G>T	ENST00000544440.2	-	20	2808	c.2791C>A	c.(2791-2793)Cat>Aat	p.H931N	MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N|MYCBP2_ENST00000407578.2_Missense_Mutation_p.H969N|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTGCCCATGCTGCCCATAA	0.348																																																0													118	112	114					13																	77798620		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2791C>A	13.37:g.77798620G>T	ENSP00000444596:p.His931Asn			Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	25.0	4.589402	0.86851	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.84730	-1.89;-1.89;-1.89	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	L	0.31664	0.95	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	D	0.89201	0.3557	10	0.59425	D	0.04	.	19.6419	0.95762	0.0:0.0:1.0:0.0	.	931	O75592	MYCB2_HUMAN	N	931;969;931	ENSP00000349892:H931N;ENSP00000384288:H969N;ENSP00000444596:H931N	ENSP00000349892:H931N	H	-	1	0	MYCBP2	76696621	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.474000	0.97718	2.640000	0.89533	0.655000	0.94253	CAT		0.348	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		T	77798620	G	T	77798620	3	4	42	1	0	0	0	0	1	0	0	0	10020	1319	46	4	11387	4	MYCBP2	13	77798620	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	39441179	77798620	37371258	84	3041											
EDNRB	1910	broad.mit.edu	37	13	78477314	78477314	+	Missense_Mutation	SNP	C	C	A	rs77132068	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:78477314C>A	ENST00000334286.5	-	3	1014	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	EDNRB_ENST00000377211.4_Missense_Mutation_p.V350F|EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	260					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GTCTTCTGAACGGGATGAAGC	0.408													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0															0								C	PHE/VAL,PHE/VAL,PHE/VAL,PHE/VAL	0,4406		0,0,2203	127	128	128		778,778,1048,778	0.3	0	13	dbSNP_131	128	19,8581	13.3+/-46.6	0,19,4281	yes	missense,missense,missense,missense	EDNRB	NM_000115.3,NM_001122659.2,NM_001201397.1,NM_003991.3	50,50,50,50	0,19,6484	AA,AC,CC		0.2209,0.0,0.1461	benign,benign,benign,benign	260/443,260/443,350/533,260/437	78477314	19,12987	2203	4300	6503	SO:0001583	missense	1910			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.778G>T	13.37:g.78477314C>A	ENSP00000335311:p.Val260Phe		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.992745	0.02162	0.0	0.002209	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.72505	-0.66;-0.66;-0.66	5.62	0.295	0.15752	GPCR, rhodopsin-like superfamily (1);	0.448229	0.28257	N	0.016005	T	0.44074	0.1276	N	0.21282	0.65	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.15052	0.007;0.009;0.012	T	0.13764	-1.0497	10	0.09338	T	0.73	-0.6465	1.8191	0.03106	0.1214:0.2116:0.126:0.5409	.	260;350;260	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	F	350;260;260	ENSP00000366416:V350F;ENSP00000403401:V260F;ENSP00000335311:V260F	ENSP00000335311:V260F	V	-	1	0	EDNRB	77375315	0.000000	0.05858	0.007000	0.13788	0.559000	0.35586	0.083000	0.14871	-0.160000	0.11002	-0.312000	0.09012	GTT		0.408	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			A	78477314	C	A	78477314	3	1	42	1	0	0	0	0	1	0	0	0	4922	536	19	4	691	4	EDNRB	13	78477314	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	678694	78477314	36692564	85	3042											
ERCC5	2073	broad.mit.edu	37	13	103513996	103513996	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:103513996G>T	ENST00000355739.4	+	7	2235	c.812G>T	c.(811-813)gGc>gTc	p.G271V	BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	271					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATGAAGGGGGCTTTCTGAAG	0.388			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	0													123	126	125					13																	103513996		2203	4300	6503	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.812G>T	13.37:g.103513996G>T	ENSP00000347978:p.Gly271Val		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785173	0.90282	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.20332	2.08	5.59	5.59	0.84812	.	0.170125	0.52532	D	0.000069	T	0.48519	0.1504	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.91635	0.944;0.999;0.999	T	0.33548	-0.9864	10	0.42905	T	0.14	-17.8275	19.6012	0.95563	0.0:0.0:1.0:0.0	.	271;271;696	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	696;271;103	ENSP00000347978:G271V	ENSP00000347978:G271V	G	+	2	0	ERCC5	102311997	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.234000	0.65343	2.625000	0.88918	0.557000	0.71058	GGC		0.388	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			T	103513996	G	T	103513996	3	4	42	1	0	0	0	0	1	0	0	0	5218	1203	42	4	838	4	ERCC5	13	103513996	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	25036682	103513996	11655882	86	3043											
C14orf115	55237	broad.mit.edu	37	14	74823530	74823530	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:74823530T>G	ENST00000256362.4	+	2	285	c.44T>G	c.(43-45)cTg>cGg	p.L15R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	15					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCAGGAGCTGCAGGAAGCA	0.587																																																0													84	80	81					14																	74823530		2203	4300	6503	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.44T>G	14.37:g.74823530T>G	ENSP00000256362:p.Leu15Arg		Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410273	0.62399	.	.	ENSG00000133980	ENST00000557177;ENST00000256362	T;T	0.46819	0.86;0.86	4.9	4.9	0.64082	.	0.087858	0.47455	D	0.000239	T	0.52075	0.1712	L	0.27053	0.805	0.50313	D	0.999863	D	0.61697	0.99	P	0.61722	0.893	T	0.57075	-0.7873	10	0.87932	D	0	0.0368	13.2353	0.59967	0.0:0.0:0.0:1.0	.	15	Q9H8Y1	VRTN_HUMAN	R	15	ENSP00000452158:L15R;ENSP00000256362:L15R	ENSP00000256362:L15R	L	+	2	0	VRTN	73893283	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.097000	0.76967	2.059000	0.61396	0.459000	0.35465	CTG		0.587	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		G	74823530	T	G	74823530	3	3	42	1	0	0	0	0	1	0	0	0	1742	1580	55	5	46	5	C14orf115	14	74823530	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08		74823530	32526010	87	3044											
DYNC1H1	1778	broad.mit.edu	37	14	102505823	102505823	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:102505823C>T	ENST00000360184.4	+	61	11699	c.11535C>T	c.(11533-11535)aaC>aaT	p.N3845N	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3845					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAACCCGAACCTGAAGGGTG	0.542																																																0													103	94	97					14																	102505823		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11535C>T	14.37:g.102505823C>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		T	102505823	C	T	102505823	2	4	42	1	0	0	0	0	0	0	0	1	4843	506	18	2		2	DYNC1H1	14	102505823	Silent	SNP	C	TCGA-A3-3313-01A-01D-0966-08	27682293	102505823	4843717	88	3045											
KLF13	51621	broad.mit.edu	37	15	31664225	31664225	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:31664225T>C	ENST00000307145.3	+	2	948	c.590T>C	c.(589-591)tTc>tCc	p.F197S	KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	197					negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GAGAGGCCCTTCGCCTGCAGC	0.662																																																0													19	18	18					15																	31664225		2200	4296	6496	SO:0001583	missense	51621			AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.590T>C	15.37:g.31664225T>C	ENSP00000302456:p.Phe197Ser		Q9Y356	Missense_Mutation	SNP	ENST00000307145.3	37	CCDS10025.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055255	0.93793	.	.	ENSG00000169926	ENST00000307145	T	0.24908	1.83	5.07	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.54759	0.1878	M	0.82716	2.605	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.62426	-0.6857	10	0.87932	D	0	.	15.116	0.72404	0.0:0.0:0.0:1.0	.	197	Q9Y2Y9	KLF13_HUMAN	S	197	ENSP00000302456:F197S	ENSP00000302456:F197S	F	+	2	0	KLF13	29451517	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.540000	0.82074	2.036000	0.60181	0.533000	0.62120	TTC		0.662	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251381.1	NM_015995		C	31664225	T	C	31664225	3	2	42	1	0	0	0	0	1	0	0	0	8343	1783	62	3	596	3	KLF13	15	31664225	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08		31664225	70867167	89	3046											
BUB1B	701	broad.mit.edu	37	15	40476084	40476084	+	Splice_Site	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:40476084G>C	ENST00000287598.6	+	6	946	c.751G>C	c.(751-753)Gct>Cct	p.A251P	BUB1B_ENST00000412359.3_Splice_Site_p.A265P	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGCTCTCAAGGGTAAGTTTGT	0.388			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													72	68	70					15																	40476084		2203	4300	6503	SO:0001630	splice_region_variant	701	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.751+1G>C	15.37:g.40476084G>C			B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Splice_Site	SNP	ENST00000287598.6	37	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303593	0.40795	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15603	2.41;2.43	5.31	3.41	0.39046	.	0.512295	0.20336	N	0.094332	T	0.13756	0.0333	L	0.48362	1.52	0.40286	D	0.978453	B;B	0.17038	0.019;0.02	B;B	0.16289	0.015;0.007	T	0.07908	-1.0748	10	0.40728	T	0.16	-2.2377	5.1962	0.15239	0.0738:0.2701:0.5168:0.1393	.	265;251	O60566-3;O60566	.;BUB1B_HUMAN	P	251;265;197	ENSP00000287598:A251P;ENSP00000398470:A265P	ENSP00000287598:A251P	A	+	1	0	BUB1B	38263376	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.520000	0.35899	0.612000	0.30071	0.491000	0.48974	GCT		0.388	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		Missense_Mutation	C	40476084	G	C	40476084	5	2	42	1	0	0	0	0	0	0	1	0	1573	1246	43	4	773	4	BUB1B	15	40476084	Splice_Site	SNP	G	TCGA-A3-3313-01A-01D-0966-08	8811859	40476084	62055308	90	3047											
UNC13C	440279	broad.mit.edu	37	15	54307905	54307905	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:54307905A>C	ENST00000260323.11	+	1	2805	c.2805A>C	c.(2803-2805)ttA>ttC	p.L935F	UNC13C_ENST00000537900.1_Missense_Mutation_p.L935F|UNC13C_ENST00000545554.1_Missense_Mutation_p.L935F	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	935					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAGGGGTTAGAACCCTTAA	0.403																																																0													79	77	78					15																	54307905		1856	4105	5961	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2805A>C	15.37:g.54307905A>C	ENSP00000260323:p.Leu935Phe		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	9.602	1.128912	0.21041	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81078	-1.45;-1.38;-1.45	5.69	3.81	0.43845	.	.	.	.	.	T	0.63651	0.2529	N	0.24115	0.695	0.31705	N	0.640274	B	0.32968	0.392	B	0.30029	0.11	T	0.59674	-0.7410	9	0.12103	T	0.63	.	8.287	0.31935	0.2432:0.0:0.7568:0.0	.	935	Q8NB66	UN13C_HUMAN	F	935	ENSP00000260323:L935F;ENSP00000438156:L935F;ENSP00000442569:L935F	ENSP00000260323:L935F	L	+	3	2	UNC13C	52095197	0.980000	0.34600	0.966000	0.40874	0.773000	0.43773	1.070000	0.30653	0.742000	0.32697	-0.248000	0.11899	TTA		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		C	54307905	A	C	54307905	3	2	42	1	0	0	0	0	1	0	0	0	16991	417	15	5	2807	5	UNC13C	15	54307905	Missense_Mutation	SNP	A	TCGA-A3-3313-01A-01D-0966-08	13831821	54307905	48223487	91	3048											
LDHAL6B	92483	broad.mit.edu	37	15	59499808	59499808	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:59499808T>A	ENST00000307144.4	+	1	767	c.669T>A	c.(667-669)atT>atA	p.I223I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	223					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GTTTCTTGATTGGACAAAAGC	0.438																																																0													77	78	78					15																	59499808		2191	4290	6481	SO:0001819	synonymous_variant	92483			AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"lactate dehydrogenase A-like 6"	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.669T>A	15.37:g.59499808T>A			Q6DUY4|Q96LI2	Silent	SNP	ENST00000307144.4	37	CCDS10171.1																																																																																				0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		A	59499808	T	A	59499808	2	1	42	1	0	0	0	0	0	0	0	1	8702	1800	63	5		5	LDHAL6B	15	59499808	Silent	SNP	T	TCGA-A3-3313-01A-01D-0966-08	5191903	59499808	43031584	92	3049											
RORA	6095	broad.mit.edu	37	15	60806849	60806849	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:60806849T>A	ENST00000335670.6	-	4	490	c.390A>T	c.(388-390)ttA>ttT	p.L130F	RORA_ENST00000449337.2_Missense_Mutation_p.L75F|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.L163F|RORA_ENST00000309157.4_Missense_Mutation_p.L155F|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	130					angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGCATTTCTGTAATCGACAGT	0.498																																																0													238	211	221					15																	60806849		2203	4300	6503	SO:0001583	missense	6095			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.390A>T	15.37:g.60806849T>A	ENSP00000335087:p.Leu130Phe		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478147	0.84747	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	6.17	-0.878	0.10617	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	N	0.12422	0.21	0.80722	D	1	D;D;D;D	0.89917	0.999;0.993;1.0;1.0	D;P;D;D	0.97110	0.992;0.908;1.0;1.0	D	0.90449	0.4437	10	0.21014	T	0.42	.	7.1061	0.25364	0.0:0.4047:0.1232:0.472	.	130;155;163;75	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	F	130;75;155;163	ENSP00000335087:L130F;ENSP00000402971:L75F;ENSP00000309753:L155F;ENSP00000261523:L163F	ENSP00000261523:L163F	L	-	3	2	RORA	58594141	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	0.978000	0.29488	-0.083000	0.12618	0.533000	0.62120	TTA		0.498	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			A	60806849	T	A	60806849	3	1	42	1	0	0	0	0	1	0	0	0	13534	1635	57	5	1213	5	RORA	15	60806849	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	1307041	60806849	41724543	93	3050											
TIPIN	54962	broad.mit.edu	37	15	66641437	66641437	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:66641437C>G	ENST00000261881.4	-	6	521	c.436G>C	c.(436-438)Gat>Cat	p.D146H	SCARNA14_ENST00000516903.1_RNA|Y_RNA_ENST00000411339.1_RNA|TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	146					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATAGGGAGATCAAGTCGAATT	0.294																																																0													62	65	64					15																	66641437		2201	4299	6500	SO:0001583	missense	54962			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"CSM3 homolog (S. cerevisiae)"	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.436G>C	15.37:g.66641437C>G	ENSP00000261881:p.Asp146His		B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209300	0.58343	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.47177	0.85;0.85	5.11	5.11	0.69529	Replication fork protection component Swi3 (2);	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	L	0.37561	1.115	0.80722	D	1	B	0.33477	0.413	B	0.38616	0.277	T	0.50303	-0.8844	10	0.72032	D	0.01	-36.7419	17.4806	0.87672	0.0:1.0:0.0:0.0	.	146	Q9BVW5	TIPIN_HUMAN	H	45;146	ENSP00000356682:D45H;ENSP00000261881:D146H	ENSP00000261881:D146H	D	-	1	0	TIPIN	64428491	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.760000	0.74939	2.539000	0.85634	0.555000	0.69702	GAT		0.294	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		G	66641437	C	G	66641437	3	3	42	1	0	0	0	0	1	0	0	0	15930	826	29	4	481	4	TIPIN	15	66641437	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	5834588	66641437	35889955	94	3051											
KIF7	374654	broad.mit.edu	37	15	90185512	90185512	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90185512C>A	ENST00000394412.3	-	11	2392	c.2316G>T	c.(2314-2316)aaG>aaT	p.K772N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	772	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTGGAGCTCCTTGCCCTCGA	0.692																																																0													20	20	20					15																	90185512		2198	4298	6496	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2316G>T	15.37:g.90185512C>A	ENSP00000377934:p.Lys772Asn		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	c	11.90	1.775859	0.31411	.	.	ENSG00000166813	ENST00000394412	T	0.54675	0.56	4.87	0.834	0.18880	.	0.348482	0.33753	N	0.004589	T	0.44286	0.1286	L	0.58810	1.83	0.23271	N	0.998003	B;B	0.27559	0.119;0.181	B;B	0.31547	0.132;0.102	T	0.31447	-0.9943	10	0.23302	T	0.38	.	8.5016	0.33161	0.0:0.4976:0.0:0.5024	.	258;772	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	N	772	ENSP00000377934:K772N	ENSP00000377934:K772N	K	-	3	2	KIF7	87986516	0.674000	0.27549	0.516000	0.27786	0.690000	0.40134	0.195000	0.17155	0.117000	0.18138	0.306000	0.20318	AAG		0.692	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		A	90185512	C	A	90185512	3	1	42	1	0	0	0	0	1	0	0	0	8311	680	24	4	1751	4	KIF7	15	90185512	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	23544075	90185512	12345880	95	3052											
GLIS2	84662	broad.mit.edu	37	16	4383391	4383392	+	In_Frame_Ins	INS	-	-	TTT	rs370568910		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:4383391_4383392insTTT	ENST00000262366.3	+	4	1037_1038	c.216_217insTTT	c.(217-219)ttt>TTTttt	p.73_73F>FF	GLIS2_ENST00000433375.1_In_Frame_Ins_p.73_73F>FF|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	73	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGGAGGGACGCTTTTCAGCAGC	0.639																																																0																																										SO:0001652	inframe_insertion	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.217_219dupTTT	16.37:g.4383392_4383394dupTTT	ENSP00000262366:p.Phe73dup		B3KX84	In_Frame_Ins	INS	ENST00000262366.3	37	CCDS10511.1																																																																																				0.639	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		TTT	4383392	-	TTT	4383391	7	5	42	1	0	1	1	0	0	0	0	0	6448	784	28	0	222	0	GLIS2	16	4383391	In_Frame_Ins	INS	-	TCGA-A3-3313-01A-01D-0966-08		4383391	85971362	96	3053											
TMC5	79838	broad.mit.edu	37	16	19488785	19488785	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:19488785T>A	ENST00000396229.2	+	13	2863	c.2114T>A	c.(2113-2115)aTc>aAc	p.I705N	TMC5_ENST00000541464.1_Missense_Mutation_p.I653N|TMC5_ENST00000561503.1_Missense_Mutation_p.I346N|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.I705N|TMC5_ENST00000564959.1_Missense_Mutation_p.I388N|TMC5_ENST00000381414.4_Missense_Mutation_p.I705N|TMC5_ENST00000219821.5_Missense_Mutation_p.I459N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	705					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAAATATCAATCATTGGCATT	0.393																																																0													237	220	226					16																	19488785		2197	4300	6497	SO:0001583	missense	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2114T>A	16.37:g.19488785T>A	ENSP00000379531:p.Ile705Asn		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.561261	0.45590	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.66815	-0.23;0.89;0.89;0.89;0.89	4.33	4.33	0.51752	.	0.116737	0.56097	D	0.000024	T	0.78528	0.4297	M	0.80183	2.485	0.35988	D	0.836502	D;P;D;D;D;D	0.71674	0.998;0.568;0.993;0.987;0.996;0.998	D;B;D;P;D;D	0.68943	0.961;0.265;0.943;0.878;0.914;0.961	T	0.80103	-0.1522	10	0.11182	T	0.66	-18.1631	13.4263	0.61028	0.0:0.0:0.0:1.0	.	653;388;459;459;705;705	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	N	653;705;705;705;459;388	ENSP00000441227:I653N;ENSP00000370822:I705N;ENSP00000379531:I705N;ENSP00000446274:I705N;ENSP00000219821:I459N	ENSP00000219821:I459N	I	+	2	0	TMC5	19396286	0.991000	0.36638	0.826000	0.32828	0.104000	0.19210	6.226000	0.72277	1.714000	0.51371	0.533000	0.62120	ATC		0.393	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		A	19488785	T	A	19488785	3	1	42	1	0	0	0	0	1	0	0	0	15993	1435	50	5	2470	5	TMC5	16	19488785	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	15105394	19488785	70865968	97	3054											
AARS	16	broad.mit.edu	37	16	70301574	70301574	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:70301574T>C	ENST00000261772.8	-	9	1353	c.1210A>G	c.(1210-1212)Aag>Gag	p.K404E	AARS_ENST00000564359.1_5'Flank	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		GGAATGGTCTTGCTGTCTCCC	0.512											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													108	96	100					16																	70301574		2198	4300	6498	SO:0001583	missense	16			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	20	protein-coding gene	gene with protein product	"alanine tRNA ligase 1, cytoplasmic"	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1210A>G	16.37:g.70301574T>C	ENSP00000261772:p.Lys404Glu	1121		Missense_Mutation	SNP	ENST00000261772.8	37	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646906	0.47258	.	.	ENSG00000090861	ENST00000261772	T	0.58797	0.31	5.81	3.48	0.39840	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.271782	0.46145	D	0.000313	T	0.58764	0.2145	L	0.61387	1.9	0.45097	D	0.998112	B;B	0.20459	0.045;0.025	B;B	0.35353	0.061;0.201	T	0.54682	-0.8257	10	0.46703	T	0.11	-8.4684	11.2899	0.49244	0.0:0.0:0.2894:0.7106	.	412;404	E7ETK8;P49588	.;SYAC_HUMAN	E	404	ENSP00000261772:K404E	ENSP00000261772:K404E	K	-	1	0	AARS	68859075	1.000000	0.71417	0.983000	0.44433	0.684000	0.39900	3.947000	0.56652	0.407000	0.25591	0.533000	0.62120	AAG		0.512	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		C	70301574	T	C	70301574	3	2	42	1	0	0	0	0	1	0	0	0	19	1821	63	3	1748	3	AARS	16	70301574	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	50812789	70301574	20053179	98	3055											
HSD17B2	3294	broad.mit.edu	37	16	82131925	82131925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:82131925C>T	ENST00000199936.4	+	5	1241	c.1048C>T	c.(1048-1050)Ctt>Ttt	p.L350F	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	350					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGGATCTGCCTTGCTCACTA	0.483																																																0													162	146	152					16																	82131925		2201	4300	6501	SO:0001583	missense	3294				CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5211	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 2"	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.1048C>T	16.37:g.82131925C>T	ENSP00000199936:p.Leu350Phe		B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	c	9.577	1.122454	0.20877	.	.	ENSG00000086696	ENST00000199936	T	0.46063	0.88	5.57	-9.13	0.00704	NAD(P)-binding domain (1);	2.396640	0.01113	N	0.005610	T	0.16342	0.0393	N	0.05534	-0.03	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.09751	-1.0660	10	0.28530	T	0.3	.	0.6444	0.00816	0.4215:0.1611:0.1824:0.235	.	350	P37059	DHB2_HUMAN	F	350	ENSP00000199936:L350F	ENSP00000199936:L350F	L	+	1	0	HSD17B2	80689426	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.372000	0.02570	-1.335000	0.02241	-0.290000	0.09829	CTT		0.483	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		T	82131925	C	T	82131925	3	4	42	1	0	0	0	0	1	0	0	0	7386	681	24	2	1066	2	HSD17B2	16	82131925	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	11830351	82131925	8222828	99	3056											
MPRIP	23164	broad.mit.edu	37	17	17064559	17064559	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:17064559G>C	ENST00000341712.4	+	15	2052	c.2052G>C	c.(2050-2052)gaG>gaC	p.E684D	MPRIP_ENST00000395811.5_Missense_Mutation_p.E684D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	684	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACAGCTGGAGCAGAGCCAGA	0.567																																																0													27	27	27					17																	17064559		2203	4300	6503	SO:0001583	missense	23164			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2052G>C	17.37:g.17064559G>C	ENSP00000342379:p.Glu684Asp		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.22|17.22	3.335228|3.335228	0.60853|0.60853	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000423885	T;T;T;T|.	0.27557|.	1.66;1.99;2.0;2.0|.	5.32|5.32	2.85|2.85	0.33270|0.33270	.|.	.|.	.|.	.|.	.|.	T|T	0.33000|0.33000	0.0848|0.0848	N|N	0.08118|0.08118	0|0	0.48632|0.48632	D|D	0.999687|0.999687	D;P|.	0.76494|.	0.999;0.924|.	D;P|.	0.77557|.	0.99;0.452|.	T|T	0.05131|0.05131	-1.0904|-1.0904	9|5	0.51188|.	T|.	0.08|.	.|.	10.3773|10.3773	0.44090|0.44090	0.1847:0.0:0.8153:0.0|0.1847:0.0:0.8153:0.0	.|.	684;684|.	Q6WCQ1-2;Q6WCQ1|.	.;MPRIP_HUMAN|.	D|T	646;684;684;684|171	ENSP00000400189:E646D;ENSP00000379156:E684D;ENSP00000379149:E684D;ENSP00000342379:E684D|.	ENSP00000342379:E684D|.	E|S	+|+	3|2	2|0	MPRIP|MPRIP	17005284|17005284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.736000|0.736000	0.42039|0.42039	1.829000|1.829000	0.39121|0.39121	0.634000|0.634000	0.30469|0.30469	-0.251000|-0.251000	0.11542|0.11542	GAG|AGC		0.567	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		C	17064559	G	C	17064559	3	2	42	1	0	0	0	0	1	0	0	0	9745	962	34	4	2110	4	MPRIP	17	17064559	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08		17064559	64130651	100	3057											
SSH2	85464	broad.mit.edu	37	17	28120929	28120929	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:28120929G>A	ENST00000269033.3	-	2	241	c.90C>T	c.(88-90)tgC>tgT	p.C30C	SSH2_ENST00000540801.1_Silent_p.C57C	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	30					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTGTGACCGGCATTCTTCCT	0.328																																																0													71	71	71					17																	28120929		2203	4300	6503	SO:0001819	synonymous_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.90C>T	17.37:g.28120929G>A			Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	CCDS11253.1																																																																																				0.328	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		A	28120929	G	A	28120929	2	1	42	1	0	0	0	0	0	0	0	1	15190	1195	42	2		2	SSH2	17	28120929	Silent	SNP	G	TCGA-A3-3313-01A-01D-0966-08	11056370	28120929	53074281	101	3058											
GPR179	440435	broad.mit.edu	37	17	36484110	36484110	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:36484110G>T	ENST00000342292.4	-	11	5362	c.5342C>A	c.(5341-5343)gCt>gAt	p.A1781D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1781					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGTCCATCAGCATCTAGAGT	0.572																																																0													79	76	77					17																	36484110		1932	4149	6081	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5342C>A	17.37:g.36484110G>T	ENSP00000345060:p.Ala1781Asp			Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836390	0.32421	.	.	ENSG00000188888	ENST00000342292	T	0.52983	0.64	4.94	3.95	0.45737	.	0.584232	0.14408	N	0.321438	T	0.31702	0.0805	N	0.22421	0.69	0.09310	N	1	P	0.34462	0.454	B	0.24394	0.053	T	0.16188	-1.0411	10	0.56958	D	0.05	-0.4979	12.3923	0.55366	0.0:0.1699:0.8301:0.0	.	1781	Q6PRD1	GP179_HUMAN	D	1781	ENSP00000345060:A1781D	ENSP00000345060:A1781D	A	-	2	0	GPR179	33737636	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.802000	0.27069	1.256000	0.44068	0.655000	0.94253	GCT		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			T	36484110	G	T	36484110	3	4	42	1	0	0	0	0	1	0	0	0	6676	971	34	4	1765	4	GPR179	17	36484110	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	8363181	36484110	44711100	102	3059											
KRT28	162605	broad.mit.edu	37	17	38955746	38955746	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:38955746C>T	ENST00000306658.7	-	1	465	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGTCATGATCAAGTCCACGG	0.388																																					Melanoma(19;789 869 15380 26882 39836)											0													146	143	144					17																	38955746		2203	4300	6503	SO:0001583	missense	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.400G>A	17.37:g.38955746C>T	ENSP00000305263:p.Asp134Asn			Missense_Mutation	SNP	ENST00000306658.7	37	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777088	0.49786	.	.	ENSG00000173908	ENST00000306658	D	0.83992	-1.79	5.19	5.19	0.71726	Filament (1);	0.094778	0.45606	D	0.000349	T	0.74359	0.3706	L	0.34521	1.04	0.38658	D	0.952009	B	0.17038	0.02	B	0.21151	0.033	T	0.72272	-0.4342	10	0.51188	T	0.08	.	10.0974	0.42484	0.0:0.9077:0.0:0.0923	.	134	Q7Z3Y7	K1C28_HUMAN	N	134	ENSP00000305263:D134N	ENSP00000305263:D134N	D	-	1	0	KRT28	36209272	0.002000	0.14202	0.993000	0.49108	0.856000	0.48823	0.956000	0.29202	2.596000	0.87737	0.655000	0.94253	GAT		0.388	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		T	38955746	C	T	38955746	3	4	42	1	0	0	0	0	1	0	0	0	8467	826	29	2	1026	2	KRT28	17	38955746	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	2471636	38955746	42239464	103	3060											
KRTAP1-3	81850	broad.mit.edu	37	17	39190847	39190847	+	Missense_Mutation	SNP	C	C	T	rs201959250		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39190847C>T	ENST00000344363.5	-	1	260	c.227G>A	c.(226-228)tGc>tAc	p.C76Y		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	86			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGCAGCAGCTTGG	0.607																																																0								C	TYR/CYS	2,4018		0,2,2008	32	37	35		227	0.4	0.3	17		35	0,8350		0,0,4175	no	missense	KRTAP1-3	NM_030966.1	194	0,2,6183	TT,TC,CC		0.0,0.0498,0.0162	benign	76/168	39190847	2,12368	2010	4175	6185	SO:0001583	missense	81850			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.227G>A	17.37:g.39190847C>T	ENSP00000344420:p.Cys76Tyr		Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933537	0.52866	4.98E-4	0.0	ENSG00000221880	ENST00000344363	T	0.30981	1.51	3.73	0.404	0.16355	.	.	.	.	.	T	0.23451	0.0567	.	.	.	0.31238	N	0.695542	B	0.29862	0.259	B	0.32022	0.139	T	0.27088	-1.0084	8	0.62326	D	0.03	.	6.2559	0.20874	0.3778:0.4385:0.1837:0.0	.	86	Q8IUG1	KRA13_HUMAN	Y	76	ENSP00000344420:C76Y	ENSP00000344420:C76Y	C	-	2	0	KRTAP1-3	36444373	0.999000	0.42202	0.260000	0.24451	0.966000	0.64601	-0.149000	0.10204	0.137000	0.18759	0.655000	0.94253	TGC		0.607	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			T	39190847	C	T	39190847	3	4	42	1	0	0	0	0	1	0	0	0	8505	710	25	2	280	2	KRTAP1-3	17	39190847	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	235101	39190847	42004363	104	3061											
EIF1	10209	broad.mit.edu	37	17	39846195	39846195	+	Splice_Site	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39846195T>C	ENST00000469257.1	+	2	341		c.e2+2		JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_Intron|EIF1_ENST00000591776.1_Splice_Site			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTAAGAAAGTAGGTCTTCAG	0.423											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(176;1692 2837 16734 17588)											0													69	68	68					17																	39846195		2203	4300	6503	SO:0001630	splice_region_variant	10209			AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.195+2T>C	17.37:g.39846195T>C		13	Q9UNQ9	Splice_Site	SNP	ENST00000469257.1	37	CCDS11403.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192317	0.38707	.	.	ENSG00000173812	ENST00000469257	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4129	0.67128	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF1	37099721	1.000000	0.71417	0.943000	0.38184	0.415000	0.31203	6.054000	0.71096	1.993000	0.58246	0.379000	0.24179	.		0.423	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257390.1	NM_005801	Intron	C	39846195	T	C	39846195	5	2	42	1	0	0	0	0	0	0	1	0	4992	1652	57	3	203	3	EIF1	17	39846195	Splice_Site	SNP	T	TCGA-A3-3313-01A-01D-0966-08	655348	39846195	41349015	105	3062											
ADAM11	4185	broad.mit.edu	37	17	42850678	42850678	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:42850678C>T	ENST00000200557.6	+	11	1044	c.875C>T	c.(874-876)aCa>aTa	p.T292I	ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	292	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCATGGAAACATGGGCAGAT	0.612																																																0													130	116	121					17																	42850678		2203	4300	6503	SO:0001583	missense	4185			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.875C>T	17.37:g.42850678C>T	ENSP00000200557:p.Thr292Ile		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803121	0.50315	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.57273	0.41;0.41	4.77	4.77	0.60923	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.972;1.0	T	0.38714	-0.9648	10	0.02654	T	1	.	16.7331	0.85440	0.0:1.0:0.0:0.0	.	92;292	B4DKD2;O75078	.;ADA11_HUMAN	I	292;92;192	ENSP00000200557:T292I;ENSP00000443773:T92I	ENSP00000200557:T292I	T	+	2	0	ADAM11	40206204	1.000000	0.71417	0.993000	0.49108	0.011000	0.07611	7.630000	0.83225	2.478000	0.83669	0.561000	0.74099	ACA		0.612	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		T	42850678	C	T	42850678	3	4	42	1	0	0	0	0	1	0	0	0	235	478	17	2	917	2	ADAM11	17	42850678	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	3004483	42850678	38344532	106	3063											
CACNA1G	8913	broad.mit.edu	37	17	48677037	48677037	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:48677037G>T	ENST00000359106.5	+	17	3507	c.3507G>T	c.(3505-3507)aaG>aaT	p.K1169N	CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1169					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGAGGCCAAGAGTTCCTTTG	0.642																																																0													30	39	36					17																	48677037		2088	4209	6297	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3507G>T	17.37:g.48677037G>T	ENSP00000352011:p.Lys1169Asn		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	16.05	3.013533	0.54468	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97041	-4.09;-4.09;-4.22;-4.04;-4.08;-4.09;-4.11;-4.17;-4.16;-4.16;-4.18;-4.04;-4.06;-4.12;-4.06;-4.03;-4.1;-4.05;-4.04;-4.1;-4.09;-4.06;-4.1;-4.04;-4.1;-4.11	4.47	3.42	0.39159	.	0.438355	0.22661	N	0.057200	D	0.96150	0.8745	L	0.29908	0.895	0.38270	D	0.942113	D;P;P;D;D;D;D;D;D;P;D;P;P;D;D;B;P;D;D;B;D;P;D;B;P;D	0.67145	0.994;0.645;0.893;0.991;0.992;0.995;0.995;0.986;0.995;0.61;0.973;0.758;0.645;0.973;0.996;0.243;0.949;0.996;0.974;0.354;0.993;0.645;0.992;0.389;0.808;0.97	D;B;B;D;P;P;D;P;D;B;P;P;B;P;D;B;P;D;P;B;D;P;P;B;B;P	0.79108	0.985;0.368;0.427;0.992;0.765;0.882;0.989;0.765;0.989;0.277;0.585;0.572;0.368;0.585;0.918;0.065;0.694;0.925;0.722;0.101;0.977;0.468;0.711;0.147;0.242;0.839	D	0.94970	0.8116	10	0.52906	T	0.07	.	7.0814	0.25234	0.2152:0.0:0.7848:0.0	.	1146;1169;1169;1169;1169;1169;1169;1169;1169;1169;1169;1146;1169;1169;1169;1169;1169;1146;1169;1146;1146;1146;1146;1169;1146;1169	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	N	1146;1146;1169;1146;1146;1146;1169;1169;1146;1169;1169;1169;1169;1169;1169;1146;1169;1169;1169;1169;1146;1169;1169;1169;1169;1169	ENSP00000353990:K1146N;ENSP00000339302:K1146N;ENSP00000392390:K1169N;ENSP00000347078:K1146N;ENSP00000409759:K1146N;ENSP00000425522:K1146N;ENSP00000426261:K1169N;ENSP00000425451:K1169N;ENSP00000422407:K1146N;ENSP00000426814:K1169N;ENSP00000427238:K1169N;ENSP00000423112:K1169N;ENSP00000420918:K1169N;ENSP00000426172:K1169N;ENSP00000423045:K1169N;ENSP00000427173:K1146N;ENSP00000426098:K1169N;ENSP00000425698:K1169N;ENSP00000426232:K1169N;ENSP00000423317:K1169N;ENSP00000350979:K1146N;ENSP00000352011:K1169N;ENSP00000414388:K1169N;ENSP00000423155:K1169N;ENSP00000422268:K1169N;ENSP00000421518:K1169N	ENSP00000339302:K1146N	K	+	3	2	CACNA1G	46032036	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.152000	0.42272	2.322000	0.78497	0.561000	0.74099	AAG		0.642	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		T	48677037	G	T	48677037	3	4	42	1	0	0	0	0	1	0	0	0	2546	933	33	4	3573	4	CACNA1G	17	48677037	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	5826359	48677037	32518173	107	3064											
SEC14L1	6397	broad.mit.edu	37	17	75208208	75208209	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:75208208_75208209insAA	ENST00000413679.2	+	15	2091_2092	c.1788_1789insAA	c.(1789-1791)aaafs	p.K597fs	SEC14L1_ENST00000591437.1_Frame_Shift_Ins_p.K563fs|SEC14L1_ENST00000443798.4_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000392476.2_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000436233.4_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000585618.1_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000430767.4_Frame_Shift_Ins_p.K597fs|SEC14L1_ENST00000431431.2_Frame_Shift_Ins_p.K563fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	597	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGCTCATAGACAAAGTCTGGCA	0.545																																																0																																										SO:0001589	frameshift_variant	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1789_1790dupAA	17.37:g.75208209_75208210dupAA	ENSP00000394716:p.Lys597fs		A8K4E8|B4DDI5|D5G3K1|Q99780	Frame_Shift_Ins	INS	ENST00000413679.2	37	CCDS11752.1																																																																																				0.545	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		AA	75208209	-	AA	75208208	7	5	42	1	0	1	1	0	0	0	0	0	13987	477	17	0	1838	0	SEC14L1	17	75208208	Frame_Shift_Ins	INS	-	TCGA-A3-3313-01A-01D-0966-08	26531171	75208208	5987002	108	3065											
EPB41L3	23136	broad.mit.edu	37	18	5397069	5397069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:5397069delT	ENST00000341928.2	-	18	3169	c.2829delA	c.(2827-2829)aaafs	p.K943fs	EPB41L3_ENST00000542146.1_Frame_Shift_Del_p.K248fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.K943fs|EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.K774fs|EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.K721fs|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Frame_Shift_Del_p.K240fs|EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.K721fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	943	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAAAATGAGGTTTTTGTTCCA	0.413																																																0													73	73	73					18																	5397069		2203	4300	6503	SO:0001589	frameshift_variant	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2829delA	18.37:g.5397069delT	ENSP00000343158:p.Lys943fs		B7Z4I5|F5GX05|O95713|Q9BRP5	Frame_Shift_Del	DEL	ENST00000341928.2	37	CCDS11838.1																																																																																				0.413	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		-	5397069	T	-	5397069	7	5	42	1	0	1	0	1	0	0	0	0	5156	1722	60	0	454	0	EPB41L3	18	5397069	Frame_Shift_Del	DEL	T	TCGA-A3-3313-01A-01D-0966-08		5397069	72680179	109	3066											
CDH7	1005	broad.mit.edu	37	18	63547747	63547747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:63547747G>T	ENST00000397968.2	+	12	2401	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	659					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAGGGCGGGGGAGAGGAGGA	0.478																																																0													71	73	72					18																	63547747		2203	4300	6503	SO:0001587	stop_gained	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1975G>T	18.37:g.63547747G>T	ENSP00000381058:p.Gly659*		Q9H157	Nonsense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	38	6.816877	0.97861	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6378	0.95744	0.0:0.0:1.0:0.0	.	.	.	.	X	659	.	ENSP00000319166:G659X	G	+	1	0	CDH7	61698727	1.000000	0.71417	0.647000	0.29507	0.077000	0.17291	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	GGA		0.478	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		T	63547747	G	T	63547747	4	4	42	1	0	0	0	0	0	1	0	0	3117	1233	43	4	2017	4	CDH7	18	63547747	Nonsense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	58150678	63547747	14529501	110	3067											
MUC16	94025	broad.mit.edu	37	19	9046473	9046473	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:9046473C>T	ENST00000397910.4	-	5	35361	c.35158G>A	c.(35158-35160)Gcc>Acc	p.A11720T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11722	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACTGGTGGCCATTACAGGT	0.517																																																0													125	119	121					19																	9046473		1983	4158	6141	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35158G>A	19.37:g.9046473C>T	ENSP00000381008:p.Ala11720Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	9.727	1.161141	0.21538	.	.	ENSG00000181143	ENST00000397910	T	0.03272	3.99	3.18	3.18	0.36537	.	.	.	.	.	T	0.09113	0.0225	L	0.54323	1.7	.	.	.	D	0.58268	0.982	P	0.57425	0.82	T	0.04825	-1.0924	8	0.87932	D	0	.	6.3844	0.21552	0.0:0.8679:0.0:0.1321	.	11720	B5ME49	.	T	11720	ENSP00000381008:A11720T	ENSP00000381008:A11720T	A	-	1	0	MUC16	8907473	0.000000	0.05858	0.003000	0.11579	0.061000	0.15899	-0.452000	0.06787	2.100000	0.63781	0.556000	0.70494	GCC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9046473	C	T	9046473	3	4	42	1	0	0	0	0	1	0	0	0	9975	739	26	2	8685	2	MUC16	19	9046473	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08		9046473	50082510	111	3068											
NOTCH3	4854	broad.mit.edu	37	19	15302555	15302555	+	Splice_Site	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:15302555C>A	ENST00000263388.2	-	5	878		c.e5+1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCAGTGCCCACCTGTCCACTC	0.637																																																0													63	53	56					19																	15302555		2203	4300	6503	SO:0001630	splice_region_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.802+1G>T	19.37:g.15302555C>A			Q9UEB3|Q9UPL3|Q9Y6L8	Splice_Site	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078336	0.76528	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6449	0.88146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH3	15163555	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.718000	0.84743	2.463000	0.83235	0.558000	0.71614	.		0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	Intron	A	15302555	C	A	15302555	5	1	42	1	0	0	0	0	0	0	1	0	10552	521	18	4	6278	4	NOTCH3	19	15302555	Splice_Site	SNP	C	TCGA-A3-3313-01A-01D-0966-08	6256082	15302555	43826428	112	3069											
EPS15L1	58513	broad.mit.edu	37	19	16539554	16539554	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16539554T>A	ENST00000248070.6	-	8	656	c.517A>T	c.(517-519)Att>Ttt	p.I173F	EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000602009.1_Missense_Mutation_p.I19F	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	173	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCCTTGTCAATGTCACTGAGG	0.577																																																0													127	75	93					19																	16539554		2203	4300	6503	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.517A>T	19.37:g.16539554T>A	ENSP00000248070:p.Ile173Phe		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.971262	0.74246	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.39056	1.1;1.1;1.1	4.87	4.87	0.63330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.73753	2.245	0.58432	D	0.999994	D;D;D;D;D;D	0.76494	0.992;0.996;0.999;0.999;0.998;0.995	D;D;D;D;D;D	0.76575	0.944;0.972;0.988;0.988;0.985;0.965	T	0.59161	-0.7506	10	0.13470	T	0.59	.	13.706	0.62639	0.0:0.0:0.0:1.0	.	173;173;172;173;173;173	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	F	173	ENSP00000393313:I173F;ENSP00000248070:I173F;ENSP00000440103:I173F	ENSP00000248070:I173F	I	-	1	0	EPS15L1	16400554	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	3.927000	0.56499	1.835000	0.53391	0.449000	0.29647	ATT		0.577	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		A	16539554	T	A	16539554	3	1	42	1	0	0	0	0	1	0	0	0	5195	1464	51	5	2141	5	EPS15L1	19	16539554	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	1236999	16539554	42589429	113	3070											
NWD1	284434	broad.mit.edu	37	19	16910759	16910759	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16910759G>A	ENST00000552788.1	+	15	3522	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000339803.6_Silent_p.V1039V|NWD1_ENST00000379808.3_Silent_p.V1174V|NWD1_ENST00000524140.2_Silent_p.V1174V|CTD-2538G9.6_ENST00000601661.1_RNA			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1174							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCCCCGTGAGCCTGCTGG	0.617																																																0													42	44	44					19																	16910759		2203	4300	6503	SO:0001819	synonymous_variant	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3522G>A	19.37:g.16910759G>A			C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37																																																																																					0.617	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		A	16910759	G	A	16910759	2	1	42	1	0	0	0	0	0	0	0	1	10783	1277	45	2		2	NWD1	19	16910759	Silent	SNP	G	TCGA-A3-3313-01A-01D-0966-08	371205	16910759	42218224	114	3071											
RPS19	6223	broad.mit.edu	37	19	42364899	42364899	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:42364899G>T	ENST00000598742.1	+	2	427	c.55G>T	c.(55-57)Gca>Tca	p.A19S	RPS19_ENST00000593863.1_Missense_Mutation_p.A19S|RPS19_ENST00000221975.2_5'UTR	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	19			LA -> E (in DBA1).		cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CAGAGCTCTGGCAGCCTTCCT	0.557									Diamond-Blackfan Anemia																																							0													124	125	124					19																	42364899		2203	4300	6503	SO:0001583	missense	6223	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"S ribosomal proteins"	10402	protein-coding gene	gene with protein product	"Diamond-Blackfan anemia"	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.55G>T	19.37:g.42364899G>T	ENSP00000470972:p.Ala19Ser			Missense_Mutation	SNP	ENST00000598742.1	37	CCDS12588.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509702	0.85282	.	.	ENSG00000105372	ENST00000221975	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.65320	2	0.80722	D	1	B	0.28998	0.23	P	0.46758	0.526	T	0.74368	-0.3688	9	0.41790	T	0.15	-13.9021	15.585	0.76475	0.0:0.0:1.0:0.0	.	19	P39019	RS19_HUMAN	S	19	.	ENSP00000221975:A19S	A	+	1	0	RPS19	47056739	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.334000	0.59291	2.476000	0.83614	0.655000	0.94253	GCA		0.557	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463049.1	NM_001022		T	42364899	G	T	42364899	3	4	42	1	0	0	0	0	1	0	0	0	13635	1203	42	4	57	4	RPS19	19	42364899	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	25454140	42364899	16764084	115	3072											
C20orf4	25980	broad.mit.edu	37	20	34832710	34832710	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:34832710G>T	ENST00000373932.3	+	3	1195	c.849G>T	c.(847-849)cgG>cgT	p.R283R	AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	283																	TCCTGTGCCGGTCAGAAGCAG	0.527																																																0													213	172	186					20																	34832710		2203	4300	6503	SO:0001819	synonymous_variant	25980				CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 4"	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.849G>T	20.37:g.34832710G>T			E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Silent	SNP	ENST00000373932.3	37	CCDS13273.1																																																																																				0.527	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		T	34832710	G	T	34832710	2	4	42	1	0	0	0	0	0	0	0	1	2113	1248	44	4		4	C20orf4	20	34832710	Silent	SNP	G	TCGA-A3-3313-01A-01D-0966-08		34832710	28192810	116	3073											
NCOA5	57727	broad.mit.edu	37	20	44693835	44693835	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:44693835C>A	ENST00000290231.6	-	6	826	c.662G>T	c.(661-663)cGa>cTa	p.R221L		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GCCCAGGTCTCGCACCTTCCG	0.483																																																0													202	168	180					20																	44693835		2203	4300	6503	SO:0001583	missense	57727				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.662G>T	20.37:g.44693835C>A	ENSP00000290231:p.Arg221Leu		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850425	0.91277	.	.	ENSG00000124160	ENST00000290231	T	0.54675	0.56	5.38	5.38	0.77491	Anticodon-binding (2);	0.056430	0.64402	D	0.000001	T	0.73218	0.3559	M	0.77103	2.36	0.80722	D	1	D	0.59357	0.985	D	0.65573	0.936	T	0.75918	-0.3148	10	0.87932	D	0	-11.4519	18.3063	0.90182	0.0:1.0:0.0:0.0	.	221	Q9HCD5	NCOA5_HUMAN	L	221	ENSP00000290231:R221L	ENSP00000290231:R221L	R	-	2	0	NCOA5	44127242	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	5.932000	0.70121	2.804000	0.96469	0.462000	0.41574	CGA		0.483	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		A	44693835	C	A	44693835	3	1	42	1	0	0	0	0	1	0	0	0	10234	884	31	4	1089	4	NCOA5	20	44693835	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08	9861125	44693835	18331685	117	3074											
SLC9A8	23315	broad.mit.edu	37	20	48479596	48479596	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:48479596T>G	ENST00000361573.2	+	9	886	c.844T>G	c.(844-846)Tct>Gct	p.S282A	SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000417961.1_Missense_Mutation_p.S298A|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	282					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGCTTAATTTCTGCATTAAT	0.418																																																0													76	73	74					20																	48479596		2203	4300	6503	SO:0001583	missense	23315			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.844T>G	20.37:g.48479596T>G	ENSP00000354966:p.Ser282Ala		B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378504	0.61735	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000539601	T;T;T	0.14516	2.5;2.5;2.5	5.39	5.39	0.77823	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	L	0.39326	1.205	0.80722	D	1	B	0.19073	0.033	B	0.27262	0.078	T	0.04976	-1.0914	10	0.30854	T	0.27	.	15.4123	0.74937	0.0:0.0:0.0:1.0	.	282	Q9Y2E8	SL9A8_HUMAN	A	298;282;63	ENSP00000416418:S298A;ENSP00000354966:S282A;ENSP00000441716:S63A	ENSP00000354966:S282A	S	+	1	0	SLC9A8	47913003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.023000	0.59567	0.460000	0.39030	TCT		0.418	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		G	48479596	T	G	48479596	3	3	42	1	0	0	0	0	1	0	0	0	14726	1783	62	5	878	5	SLC9A8	20	48479596	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	3785761	48479596	14545924	118	3075											
ZNF831	128611	broad.mit.edu	37	20	57768699	57768699	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:57768699G>A	ENST00000371030.2	+	1	2625	c.2625G>A	c.(2623-2625)caG>caA	p.Q875Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	875							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGCCAGGCAGGTGGGCGAGC	0.652																																																0													26	31	29					20																	57768699		1974	4150	6124	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2625G>A	20.37:g.57768699G>A			Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.652	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57768699	G	A	57768699	2	1	42	1	0	0	0	0	0	0	0	1	18190	991	35	2		2	ZNF831	20	57768699	Silent	SNP	G	TCGA-A3-3313-01A-01D-0966-08	9289103	57768699	5256821	119	3076											
KRTAP10-7	386675	broad.mit.edu	37	21	46021150	46021150	+	Missense_Mutation	SNP	C	C	T	rs368247742	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:46021150C>T	ENST00000380102.2	+	1	654	c.629C>T	c.(628-630)aCg>aTg	p.T210M	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	210	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						AGCTCCTGCACGCCCTCGTGC	0.667													C|||	2	0.000399361	0.0	0.0014	5008	,	,		22511	0.0		0.0	False		,,,				2504	0.001															0								C	MET/THR,	0,4402		0,0,2201	49	49	49		629,	0.9	0	21		49	1,8557		0,1,4278	no	missense,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	81,	0,1,6479	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,	210/376,	46021150	1,12959	2201	4279	6480	SO:0001583	missense	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.629C>T	21.37:g.46021150C>T	ENSP00000369445:p.Thr210Met		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37		.	.	.	.	.	.	.	.	.	.	N	2.156	-0.393436	0.04899	0.0	1.17E-4	ENSG00000205441	ENST00000380102	T	0.01406	4.93	3.1	0.846	0.18955	.	.	.	.	.	T	0.03871	0.0109	M	0.80422	2.495	0.09310	N	1	D	0.59357	0.985	P	0.49528	0.614	T	0.34054	-0.9844	9	0.48119	T	0.1	.	7.8101	0.29226	0.388:0.612:0.0:0.0	.	205	P60409-2	.	M	210	ENSP00000369445:T210M	ENSP00000369445:T210M	T	+	2	0	KRTAP10-7	44845578	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	-0.265000	0.08644	0.373000	0.24621	0.305000	0.20034	ACG		0.667	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		T	46021150	C	T	46021150	3	4	42	1	0	0	0	0	1	0	0	0	8516	536	19	1	620	1	KRTAP10-7	21	46021150	Missense_Mutation	SNP	C	TCGA-A3-3313-01A-01D-0966-08		46021150	2108745	120	3077											
DGCR14	8220	broad.mit.edu	37	22	19127229	19127229	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:19127229T>C	ENST00000252137.6	-	5	627	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	195					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GAGTTCGAGATTATCTTTCTG	0.562																																																0													152	140	144					22																	19127229		2203	4300	6503	SO:0001583	missense	8220			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.584A>G	22.37:g.19127229T>C	ENSP00000252137:p.Asn195Ser		Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	T	2.136	-0.397841	0.04865	.	.	ENSG00000100056	ENST00000252137	T	0.41400	1.0	4.47	2.31	0.28768	.	0.046498	0.85682	N	0.000000	T	0.25717	0.0626	L	0.34521	1.04	0.53688	D	0.999971	B	0.06786	0.001	B	0.09377	0.004	T	0.08351	-1.0726	10	0.08599	T	0.76	-7.6761	8.6123	0.33811	0.0:0.1637:0.0:0.8363	.	195	Q96DF8	DGC14_HUMAN	S	195	ENSP00000252137:N195S	ENSP00000252137:N195S	N	-	2	0	DGCR14	17507229	0.998000	0.40836	0.625000	0.29200	0.723000	0.41478	2.015000	0.40961	0.244000	0.21351	0.383000	0.25322	AAT		0.562	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			C	19127229	T	C	19127229	3	2	42	1	0	0	0	0	1	0	0	0	4462	1493	52	3	870	3	DGCR14	22	19127229	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08		19127229	32177337	121	3078											
FOXRED2	80020	broad.mit.edu	37	22	36892016	36892016	+	Missense_Mutation	SNP	G	G	T	rs376453305		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:36892016G>T	ENST00000397224.4	-	7	1715	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N|FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	541					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCTCACCGGTGGGGAGGTA	0.542																																																0													96	92	94					22																	36892016		2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1622C>A	22.37:g.36892016G>T	ENSP00000380401:p.Thr541Asn		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538925	0.65085	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.49432	2.39;2.39;0.78;2.39	5.52	5.52	0.82312	.	0.047591	0.85682	D	0.000000	T	0.50888	0.1642	M	0.61703	1.905	0.80722	D	1	P	0.45902	0.868	B	0.41036	0.346	T	0.56420	-0.7982	10	0.54805	T	0.06	-30.5522	19.4887	0.95040	0.0:0.0:1.0:0.0	.	541	Q8IWF2	FXRD2_HUMAN	N	541;541;93;541	ENSP00000380401:T541N;ENSP00000216187:T541N;ENSP00000382543:T93N;ENSP00000380400:T541N	ENSP00000216187:T541N	T	-	2	0	FOXRED2	35221962	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	8.714000	0.91412	2.607000	0.88179	0.650000	0.86243	ACC		0.542	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		T	36892016	G	T	36892016	3	4	42	1	0	0	0	0	1	0	0	0	6036	1261	44	4	444	4	FOXRED2	22	36892016	Missense_Mutation	SNP	G	TCGA-A3-3313-01A-01D-0966-08	17764787	36892016	14412550	122	3079											
FAM9B	171483	broad.mit.edu	37	X	9000465	9000465	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:9000465G>A	ENST00000327220.5	-	3	430	c.66C>T	c.(64-66)aaC>aaT	p.N22N	FAM9B_ENST00000362066.3_Silent_p.N67N|FAM9B_ENST00000428477.1_Silent_p.N22N			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	22						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CTGTAAAACGGTTTCTTTCCT	0.398																																																0													238	196	210					X																	9000465		2203	4300	6503	SO:0001819	synonymous_variant	171483				CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"testis expressed 39B"	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.66C>T	X.37:g.9000465G>A			Q0IJ68|Q8N7Z8	Silent	SNP	ENST00000327220.5	37	CCDS14132.1																																																																																				0.398	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		A	9000465	G	A	9000465	2	1	42	1	0	0	0	0	0	0	0	1	5662	1252	44	2		2	FAM9B	23	9000465	Silent	SNP	G	TCGA-A3-3313-01A-01D-0966-08		9000465	146270095	123	3080											
GRPR	2925	broad.mit.edu	37	X	16168712	16168712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:16168712T>A	ENST00000380289.2	+	2	1096	c.698T>A	c.(697-699)aTt>aAt	p.I233N	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	233					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TACTACTTCATTGCTAAAAAT	0.428																																																0													130	109	116					X																	16168712		2203	4300	6503	SO:0001583	missense	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.698T>A	X.37:g.16168712T>A	ENSP00000369643:p.Ile233Asn		B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347457	0.82022	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.58060	0.36	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.049654	0.85682	D	0.000000	T	0.79799	0.4508	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85534	0.1211	10	0.87932	D	0	-12.0435	13.8962	0.63773	0.0:0.0:0.0:1.0	.	233	P30550	GRPR_HUMAN	N	233;22	ENSP00000369643:I233N	ENSP00000369643:I233N	I	+	2	0	GRPR	16078633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.878000	0.54408	0.486000	0.48141	ATT		0.428	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		A	16168712	T	A	16168712	3	1	42	1	0	0	0	0	1	0	0	0	6810	1493	52	5	704	5	GRPR	23	16168712	Missense_Mutation	SNP	T	TCGA-A3-3313-01A-01D-0966-08	7168247	16168712	139101848	124	3081											
DMAP1	55929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44684379	44684379	+	Silent	SNP	A	A	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr1:44684379A>T	ENST00000372289.2	+	5	935	c.672A>T	c.(670-672)cgA>cgT	p.R224R	DMAP1_ENST00000361745.6_Silent_p.R224R|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Silent_p.R224R	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	224					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GGCACGAACGACGGCGGAAGG	0.562											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													117	111	113					1																	44684379		2203	4300	6503	SO:0001819	synonymous_variant	55929			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.672A>T	1.37:g.44684379A>T		925	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	37	CCDS509.1																																																																																				0.562	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		T	44684379	A	T	44684379	2	4	43	1	0	0	0	0	0	0	0	1	4578	262	10	5		5	DMAP1	1	44684379	Silent	SNP	A	TCGA-A3-3317-01A-01D-0966-08		44684379	204566242	1	3082											
ORC1L	4998	hgsc.bcm.edu;ucsc.edu	37	1	52867881	52867881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr1:52867881delG	ENST00000371568.3	-	2	233	c.15delC	c.(13-15)cccfs	p.P5fs	ORC1_ENST00000371566.1_Frame_Shift_Del_p.P5fs|PRPF38A_ENST00000257181.9_5'Flank	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	5					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCAGCCTTGTGGGGTAGTGTG	0.443																																																0													118	102	108					1																	52867881		2203	4300	6503	SO:0001589	frameshift_variant	4998				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.15delC	1.37:g.52867881delG	ENSP00000360623:p.Pro5fs		D3DQ34|Q13471|Q5T0F5	Frame_Shift_Del	DEL	ENST00000371568.3	37	CCDS566.1																																																																																				0.443	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		-	52867881	G	-	52867881	7	5	43	1	0	1	0	1	0	0	0	0	11263	1335	47	0	2634	0	ORC1L	1	52867881	Frame_Shift_Del	DEL	G	TCGA-A3-3317-01A-01D-0966-08	8183502	52867881	196382740	2	3083											
DOCK7	85440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	63084419	63084419	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr1:63084419T>C	ENST00000340370.5	-	14	1657	c.1640A>G	c.(1639-1641)gAg>gGg	p.E547G	DOCK7_ENST00000251157.5_Missense_Mutation_p.E547G|DOCK7_ENST00000404627.2_Missense_Mutation_p.E547G	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	547					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGCGGGAAACTCTAAGATTTC	0.388																																																0													92	98	96					1																	63084419		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1640A>G	1.37:g.63084419T>C	ENSP00000340742:p.Glu547Gly		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.894305	0.91889	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.39592	1.07;1.07;1.07	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.90814	3.15	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0	T	0.74542	-0.3631	10	0.87932	D	0	.	15.5051	0.75731	0.0:0.0:0.0:1.0	.	547;547;547;547;547	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	G	547	ENSP00000251157:E547G;ENSP00000340742:E547G;ENSP00000384446:E547G	ENSP00000251157:E547G	E	-	2	0	DOCK7	62857007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.248000	0.74166	0.528000	0.53228	GAG		0.388	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		C	63084419	T	C	63084419	3	2	43	1	0	0	0	0	1	0	0	0	4694	1551	54	3	4833	3	DOCK7	1	63084419	Missense_Mutation	SNP	T	TCGA-A3-3317-01A-01D-0966-08	10216538	63084419	186166202	3	3084											
LMO4	8543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	87805242	87805242	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr1:87805242G>C	ENST00000370544.5	+	3	1040	c.260G>C	c.(259-261)tGc>tCc	p.C87S	LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Missense_Mutation_p.C87S	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	87	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		AGCGGTGCTTGCAGCGCTTGC	0.423																																																0													90	89	89					1																	87805242		2203	4300	6503	SO:0001583	missense	8543			U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.260G>C	1.37:g.87805242G>C	ENSP00000359575:p.Cys87Ser		D3DT23|O00158|O88894	Missense_Mutation	SNP	ENST00000370544.5	37	CCDS713.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933378	0.92458	.	.	ENSG00000143013	ENST00000370544;ENST00000370542	D;D	0.99311	-5.73;-5.73	5.93	5.02	0.67125	Zinc finger, LIM-type (5);	0.040421	0.85682	D	0.000000	D	0.99736	0.9896	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96795	0.9585	10	0.87932	D	0	.	15.2184	0.73288	0.0674:0.0:0.9326:0.0	.	87	P61968	LMO4_HUMAN	S	87	ENSP00000359575:C87S;ENSP00000359573:C87S	ENSP00000359573:C87S	C	+	2	0	LMO4	87577830	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	1.506000	0.48736	0.655000	0.94253	TGC		0.423	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2	NM_006769		C	87805242	G	C	87805242	3	2	43	1	0	0	0	0	1	0	0	0	8856	1319	46	4	266	4	LMO4	1	87805242	Missense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08	24720823	87805242	161445379	4	3085											
HIST2H2BE	8349	hgsc.bcm.edu	37	1	149857934	149857936	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr1:149857934_149857936delTTG	ENST00000369155.2	-	1	296_298	c.255_257delCAA	c.(253-258)aacaag>aag	p.N85del	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	85					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGTGGAGCGCTTGTTGTAGTGCG	0.655																																																0																																										SO:0001651	inframe_deletion	8349			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.255_257delCAA	1.37:g.149857937_149857939delTTG	ENSP00000358151:p.Asn85del		A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	In_Frame_Del	DEL	ENST00000369155.2	37	CCDS936.1																																																																																				0.655	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		-	149857936	TTG	-	149857934	7	5	43	1	0	1	0	1	0	0	0	0	7181	1609	56	0	127	0	HIST2H2BE	1	149857934	In_Frame_Del	DEL	TTG	TCGA-A3-3317-01A-01D-0966-08	62052692	149857934	99392687	5	3086											
SELENBP1	8991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151337664	151337664	+	Splice_Site	SNP	C	C	G			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr1:151337664C>G	ENST00000368868.5	-	10	1229		c.e10+1		SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000447402.3_Splice_Site|SELENBP1_ENST00000435071.1_Splice_Site|SELENBP1_ENST00000426705.2_Splice_Site	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1						protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGCTCTTACCTTGACCACT	0.577																																																0													54	53	53					1																	151337664		2203	4300	6503	SO:0001630	splice_region_variant	8991			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1137+1G>C	1.37:g.151337664C>G			A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Splice_Site	SNP	ENST00000368868.5	37	CCDS995.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644886	0.67358	.	.	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1102	0.53836	0.1721:0.8279:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SELENBP1	149604288	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.888000	0.75622	2.384000	0.81235	0.655000	0.94253	.		0.577	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4		Intron	G	151337664	C	G	151337664	5	3	43	1	0	0	0	0	0	0	1	0	14020	521	18	4	292	4	SELENBP1	1	151337664	Splice_Site	SNP	C	TCGA-A3-3317-01A-01D-0966-08	1479730	151337664	97912957	6	3087											
C1orf114	57821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169391155	169391155	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr1:169391155A>C	ENST00000367806.3	-	3	666	c.514T>G	c.(514-516)Ttt>Gtt	p.F172V	CCDC181_ENST00000545005.1_Missense_Mutation_p.F172V|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.F172V	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	172			F -> S (in dbSNP:rs3820059). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.			nucleus (GO:0005634)											TAATTTTTAAAAGTAGTAGTG	0.353																																																0													72	78	76					1																	169391155		2203	4298	6501	SO:0001583	missense	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.514T>G	1.37:g.169391155A>C	ENSP00000356780:p.Phe172Val		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37		.	.	.	.	.	.	.	.	.	.	A	0.007	-1.960468	0.00465	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.21191	2.02;2.02;2.02;2.03	5.24	1.4	0.22301	.	1.102760	0.06633	N	0.759632	T	0.02688	0.0081	N	0.08118	0	0.18873	N	0.999985	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.44205	-0.9343	9	0.15952	T	0.53	0.091	5.9865	0.19436	0.5414:0.2278:0.2308:0.0	.	172;172;172	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	V	172	ENSP00000356779:F172V;ENSP00000356780:F172V;ENSP00000442297:F172V;ENSP00000411000:F172V	ENSP00000356779:F172V	F	-	1	0	C1orf114	167657779	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.226000	0.17776	0.307000	0.22880	0.455000	0.32223	TTT		0.353	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		C	169391155	A	C	169391155	3	2	43	1	0	0	0	0	1	0	0	0	1989	14	1	5	1028	5	C1orf114	1	169391155	Missense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08	18053491	169391155	79859466	7	3088											
CHIT1	1118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203186906	203186906	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr1:203186906C>T	ENST00000367229.1	-	10	1151	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	CHIT1_ENST00000535569.1_Missense_Mutation_p.G364S|CHIT1_ENST00000255427.3_Missense_Mutation_p.G354S|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	373					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGGTATCGGCCCTGGTTGCAG	0.592																																																0													65	59	61					1																	203186906		2203	4300	6503	SO:0001583	missense	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1117G>A	1.37:g.203186906C>T	ENSP00000356198:p.Gly373Ser		B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193986	0.58017	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.37584	1.19;1.19;1.19	4.84	3.93	0.45458	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.47093	D	0.000252	T	0.63462	0.2513	M	0.88512	2.96	0.47547	D	0.999458	D;D;D	0.89917	1.0;0.994;0.977	D;P;P	0.97110	1.0;0.872;0.809	T	0.69143	-0.5223	10	0.66056	D	0.02	-7.6467	11.2318	0.48916	0.0:0.9098:0.0:0.0902	.	344;364;373	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	S	373;354;364	ENSP00000356198:G373S;ENSP00000255427:G354S;ENSP00000438078:G364S	ENSP00000255427:G354S	G	-	1	0	CHIT1	201453529	1.000000	0.71417	0.576000	0.28549	0.200000	0.23975	4.206000	0.58473	1.174000	0.42811	0.655000	0.94253	GGC		0.592	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203186906	C	T	203186906	3	4	43	1	0	0	0	0	1	0	0	0	3348	623	22	2	291	2	CHIT1	1	203186906	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08	33795751	203186906	46063715	8	3089											
PREPL	9581	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44554022	44554022	+	Silent	SNP	T	T	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr2:44554022T>A	ENST00000409936.1	-	11	2012	c.1575A>T	c.(1573-1575)ctA>ctT	p.L525L	PREPL_ENST00000378511.3_Silent_p.L463L|PREPL_ENST00000409411.1_Silent_p.L436L|PREPL_ENST00000409957.1_Silent_p.L436L|PREPL_ENST00000541738.1_Silent_p.L436L|PREPL_ENST00000410081.1_Silent_p.L525L|PREPL_ENST00000378520.3_Silent_p.L459L|PREPL_ENST00000409272.1_Silent_p.L525L|PREPL_ENST00000260648.6_Silent_p.L525L	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	525						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTTTTTTAGTTAGGCGGCCAT	0.448																																																0													51	48	49					2																	44554022		2203	4300	6503	SO:0001819	synonymous_variant	9581			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1575A>T	2.37:g.44554022T>A			A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	ENST00000409936.1	37	CCDS33190.1																																																																																				0.448	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		A	44554022	T	A	44554022	2	1	43	1	0	0	0	0	0	0	0	1	12480	1741	61	5		5	PREPL	2	44554022	Silent	SNP	T	TCGA-A3-3317-01A-01D-0966-08		44554022	198645351	9	3090											
SMEK2	57223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	55813757	55813757	+	Silent	SNP	T	T	A	rs199689343		TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr2:55813757T>A	ENST00000345102.5	-	6	1414	c.1113A>T	c.(1111-1113)gtA>gtT	p.V371V	SMEK2_ENST00000407823.3_Silent_p.V371V|SMEK2_ENST00000272313.5_Silent_p.V371V	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	371					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAATTACCATTACAATTTCAA	0.294																																																0								T	,	0,4404		0,0,2202	102	104	103		1113,1113	4.6	1	2		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SMEK2	NM_001122964.1,NM_020463.2	,	0,1,6501	AA,AT,TT		0.0116,0.0,0.0077	,	371/850,371/765	55813757	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1113A>T	2.37:g.55813757T>A			Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Silent	SNP	ENST00000345102.5	37	CCDS46289.1																																																																																				0.294	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		A	55813757	T	A	55813757	2	1	43	1	0	0	0	0	0	0	0	1	14800	1741	61	5		5	SMEK2	2	55813757	Silent	SNP	T	TCGA-A3-3317-01A-01D-0966-08	11259735	55813757	187385616	10	3091											
ANKRD36	375248	broad.mit.edu;hgsc.bcm.edu	37	2	97784175	97784175	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr2:97784175A>T	ENST00000461153.2	+	3	651	c.407A>T	c.(406-408)cAc>cTc	p.H136L	ANKRD36_ENST00000420699.2_Missense_Mutation_p.H136L			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	136										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ACTGCTCTGCACTACGCTGTG	0.413																																																0													74	61	65					2																	97784175		1860	4101	5961	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.407A>T	2.37:g.97784175A>T	ENSP00000419530:p.His136Leu		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657408	0.47467	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000393513;ENST00000289105;ENST00000455519	T;T	0.69806	-0.43;-0.43	1.4	1.4	0.22301	Ankyrin repeat-containing domain (4);	0.000000	0.49916	D	0.000133	T	0.72550	0.3474	M	0.63843	1.955	0.80722	D	1	D;P;D	0.69078	0.993;0.89;0.997	D;D;D	0.68943	0.961;0.923;0.958	T	0.71454	-0.4588	10	0.87932	D	0	.	4.9561	0.14041	1.0:0.0:0.0:0.0	.	136;136;136	A6QL64;F2Z332;A6QL64-4	AN36A_HUMAN;.;.	L	136	ENSP00000419530:H136L;ENSP00000391950:H136L	ENSP00000289105:H136L	H	+	2	0	ANKRD36	97147902	1.000000	0.71417	0.149000	0.22428	0.090000	0.18270	4.976000	0.63785	0.893000	0.36288	0.155000	0.16302	CAC		0.413	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			T	97784175	A	T	97784175	3	4	43	1	0	0	0	0	1	0	0	0	665	159	6	5	417	5	ANKRD36	2	97784175	Missense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08	41970418	97784175	145415198	11	3092											
ST6GAL2	84620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	107460218	107460218	+	Silent	SNP	C	C	G			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr2:107460218C>G	ENST00000409382.3	-	2	826	c.216G>C	c.(214-216)ggG>ggC	p.G72G	ST6GAL2_ENST00000409087.3_Silent_p.G72G|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.G72G	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	72					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGTCCAGGCCCCCAGGCGGGG	0.701																																																0													15	19	18					2																	107460218		2156	4224	6380	SO:0001819	synonymous_variant	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.216G>C	2.37:g.107460218C>G			D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	CCDS2073.1																																																																																				0.701	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		G	107460218	C	G	107460218	2	3	43	1	0	0	0	0	0	0	0	1	15227	610	22	4		4	ST6GAL2	2	107460218	Silent	SNP	C	TCGA-A3-3317-01A-01D-0966-08	9676043	107460218	135739155	12	3093											
RIF1	55183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152320194	152320194	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr2:152320194A>C	ENST00000243326.5	+	29	4643	c.4160A>C	c.(4159-4161)aAt>aCt	p.N1387T	RIF1_ENST00000430328.2_Missense_Mutation_p.N1387T|RIF1_ENST00000453091.2_Missense_Mutation_p.N1387T|RIF1_ENST00000444746.2_Missense_Mutation_p.N1387T|RIF1_ENST00000428287.2_Missense_Mutation_p.N1387T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCCAAAGAGAATACACCCCCA	0.363																																																0													90	96	94					2																	152320194		2203	4300	6503	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4160A>C	2.37:g.152320194A>C	ENSP00000243326:p.Asn1387Thr		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606601	0.46527	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.45	4.3	0.51218	.	0.388373	0.30168	N	0.010251	T	0.47525	0.1450	M	0.66939	2.045	0.80722	D	1	P;P	0.52842	0.926;0.956	P;P	0.53266	0.554;0.722	T	0.47446	-0.9117	10	0.66056	D	0.02	-11.5968	10.2329	0.43266	0.9201:0.0:0.0799:0.0	.	1387;1387	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	T	1387	ENSP00000390181:N1387T;ENSP00000414615:N1387T;ENSP00000415691:N1387T;ENSP00000243326:N1387T;ENSP00000416123:N1387T	ENSP00000243326:N1387T	N	+	2	0	RIF1	152028440	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.178000	0.58284	0.924000	0.37069	0.455000	0.32223	AAT		0.363	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			C	152320194	A	C	152320194	3	2	43	1	0	0	0	0	1	0	0	0	13365	101	4	5	4274	5	RIF1	2	152320194	Missense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08	44859976	152320194	90879179	13	3094											
CHRNA1	1134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	175612868	175612868	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr2:175612868A>T	ENST00000261007.5	-	10	1499	c.1433T>A	c.(1432-1434)tTa>tAa	p.L478*	CHRNA1_ENST00000409542.1_Nonsense_Mutation_p.L371*|CHRNA1_ENST00000348749.5_Nonsense_Mutation_p.L453*|CHRNA1_ENST00000409219.1_Nonsense_Mutation_p.L373*|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	478					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TTGCTGATTTAATTCAATGAG	0.488																																																0													93	86	88					2																	175612868		2203	4300	6503	SO:0001587	stop_gained	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1433T>A	2.37:g.175612868A>T	ENSP00000261007:p.Leu478*		B4DRV6|D3DPE8	Nonsense_Mutation	SNP	ENST00000261007.5	37	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	A	35	5.470363	0.96274	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	.	.	.	5.24	5.24	0.73138	.	0.295099	0.32301	N	0.006292	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4423	0.75195	1.0:0.0:0.0:0.0	.	.	.	.	X	453;478;371;373	.	ENSP00000261007:L478X	L	-	2	0	CHRNA1	175321114	1.000000	0.71417	0.644000	0.29465	0.983000	0.72400	7.096000	0.76960	2.107000	0.64212	0.533000	0.62120	TTA		0.488	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			T	175612868	A	T	175612868	4	4	43	1	0	0	0	0	0	1	0	0	3383	372	13	5	19	5	CHRNA1	2	175612868	Nonsense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08	23292674	175612868	67586505	14	3095											
PECR	55825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	216908708	216908708	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr2:216908708G>A	ENST00000265322.7	-	7	819	c.745C>T	c.(745-747)Cct>Tct	p.P249S		NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	249					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GAAGCTGCAGGAGACAGTAGG	0.512																																																0													75	67	70					2																	216908708		2203	4300	6503	SO:0001583	missense	55825			AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18281	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 29C, member 1"	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.745C>T	2.37:g.216908708G>A	ENSP00000265322:p.Pro249Ser		B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577121	0.86645	.	.	ENSG00000115425	ENST00000265322	T	0.52983	0.64	5.55	5.55	0.83447	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.986;0.976	T	0.62282	-0.6887	10	0.48119	T	0.1	.	17.001	0.86381	0.0:0.0:1.0:0.0	.	249;103	Q9BY49;Q9BY49-2	PECR_HUMAN;.	S	249	ENSP00000265322:P249S	ENSP00000265322:P249S	P	-	1	0	PECR	216616953	1.000000	0.71417	0.969000	0.41365	0.977000	0.68977	4.776000	0.62354	2.607000	0.88179	0.591000	0.81541	CCT		0.512	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		A	216908708	G	A	216908708	3	1	43	1	0	0	0	0	1	0	0	0	11719	1174	41	2	174	2	PECR	2	216908708	Missense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08	41295840	216908708	26290665	15	3096											
ZFAND2B	130617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220072989	220072989	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr2:220072989T>C	ENST00000289528.5	+	5	641	c.446T>C	c.(445-447)aTc>aCc	p.I149T	ZFAND2B_ENST00000409217.1_Missense_Mutation_p.I149T|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.I149T|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.I149T|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.I149T|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.I149T|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.I149T	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	149						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)	p.I149T(1)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGCTGCCATCTCCAGAGCA	0.532																																																1	Substitution - Missense(1)	kidney(1)											75	62	66					2																	220072989		2203	4300	6503	SO:0001583	missense	130617			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.446T>C	2.37:g.220072989T>C	ENSP00000289528:p.Ile149Thr		Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286451	0.40494	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T;T;T	0.44881	0.95;0.95;0.91;0.92;0.91;0.91;0.92;0.91	5.32	5.32	0.75619	Zinc finger, AN1-type (1);	0.400654	0.26646	N	0.023223	T	0.38480	0.1042	L	0.54323	1.7	0.38030	D	0.93514	P;B;B	0.36438	0.553;0.019;0.149	B;B;B	0.35470	0.203;0.022;0.053	T	0.44283	-0.9338	10	0.48119	T	0.1	-15.7601	11.5973	0.50981	0.0:0.0:0.0:1.0	.	40;149;149	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	T	149	ENSP00000386824:I149T;ENSP00000386399:I149T;ENSP00000289528:I149T;ENSP00000409931:I149T;ENSP00000387179:I149T;ENSP00000386898:I149T;ENSP00000386370:I149T;ENSP00000411334:I149T	ENSP00000289528:I149T	I	+	2	0	ZFAND2B	219781233	0.998000	0.40836	1.000000	0.80357	0.961000	0.63080	3.720000	0.54933	2.233000	0.73108	0.533000	0.62120	ATC		0.532	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		C	220072989	T	C	220072989	3	2	43	1	0	0	0	0	1	0	0	0	17633	1435	50	3	464	3	ZFAND2B	2	220072989	Missense_Mutation	SNP	T	TCGA-A3-3317-01A-01D-0966-08	3164281	220072989	23126384	16	3097											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52438515	52438515	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr3:52438515C>A	ENST00000460680.1	-	12	1675	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.E384*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		tcgtcatcctcatagtcatcc	0.577			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													157	116	130					3																	52438515		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1204G>T	3.37:g.52438515C>A	ENSP00000417132:p.Glu402*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	38	6.706306	0.97776	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.65	5.65	0.86999	.	0.168051	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.7207	0.96142	0.0:1.0:0.0:0.0	.	.	.	.	X	402;384	.	ENSP00000296288:E384X	E	-	1	0	BAP1	52413555	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.282000	0.72639	2.661000	0.90470	0.655000	0.94253	GAG		0.577	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52438515	C	A	52438515	4	1	43	1	0	0	0	0	0	1	0	0	1311	835	29	4	1009	4	BAP1	3	52438515	Nonsense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08		52438515	145583915	17	3098											
SAMD7	344658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	169644942	169644942	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr3:169644942C>A	ENST00000428432.2	+	6	1281	c.892C>A	c.(892-894)Cct>Act	p.P298T	SAMD7_ENST00000335556.3_Missense_Mutation_p.P298T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	298										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGGGTTTGCCCTCCAGTTCC	0.512																																																0													49	49	49					3																	169644942		2201	4300	6501	SO:0001583	missense	344658			BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.892C>A	3.37:g.169644942C>A	ENSP00000391299:p.Pro298Thr			Missense_Mutation	SNP	ENST00000428432.2	37	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	C	7.277	0.608366	0.14002	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.47177	0.85;0.85	5.61	1.12	0.20585	.	0.364534	0.31290	N	0.007919	T	0.23688	0.0573	N	0.24115	0.695	0.09310	N	1	B	0.21381	0.055	B	0.15870	0.014	T	0.05852	-1.0860	10	0.23302	T	0.38	-0.1087	1.3297	0.02132	0.1695:0.4136:0.1678:0.249	.	298	Q7Z3H4	SAMD7_HUMAN	T	298	ENSP00000391299:P298T;ENSP00000334668:P298T	ENSP00000334668:P298T	P	+	1	0	SAMD7	171127636	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.367000	0.20382	0.303000	0.22785	-0.188000	0.12872	CCT		0.512	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		A	169644942	C	A	169644942	3	1	43	1	0	0	0	0	1	0	0	0	13830	623	22	4	906	4	SAMD7	3	169644942	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08	117206427	169644942	28377488	18	3099											
DOK7	285489	hgsc.bcm.edu;ucsc.edu	37	4	3487325	3487325	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr4:3487325delT	ENST00000340083.5	+	5	657	c.592delT	c.(592-594)tgcfs	p.C198fs	DOK7_ENST00000507039.1_Frame_Shift_Del_p.L194fs|DOK7_ENST00000389653.2_Frame_Shift_Del_p.C198fs	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	198	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTGTTCGACTGCATCGTCCG	0.682																																																0													47	43	45					4																	3487325		2203	4300	6503	SO:0001589	frameshift_variant	285489			AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.592delT	4.37:g.3487325delT	ENSP00000344432:p.Cys198fs		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Frame_Shift_Del	DEL	ENST00000340083.5	37	CCDS3370.2																																																																																				0.682	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		-	3487325	T	-	3487325	7	5	43	1	0	1	0	1	0	0	0	0	4704	1580	55	0	610	0	DOK7	4	3487325	Frame_Shift_Del	DEL	T	TCGA-A3-3317-01A-01D-0966-08		3487325	187666951	19	3100											
ENPEP	2028	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	111463966	111463966	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr4:111463966C>T	ENST00000265162.5	+	12	2209	c.1867C>T	c.(1867-1869)Cat>Tat	p.H623Y		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	623					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		AAACCCAGATCATATTGGGTT	0.378																																																0													104	109	107					4																	111463966		2203	4300	6503	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1867C>T	4.37:g.111463966C>T	ENSP00000265162:p.His623Tyr		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739375	0.89573	.	.	ENSG00000138792	ENST00000265162	T	0.05786	3.39	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	M	0.67953	2.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.00140	-1.2000	10	0.36615	T	0.2	.	17.6176	0.88072	0.0:1.0:0.0:0.0	.	623	Q07075	AMPE_HUMAN	Y	623	ENSP00000265162:H623Y	ENSP00000265162:H623Y	H	+	1	0	ENPEP	111683415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.200000	0.58433	2.611000	0.88343	0.655000	0.94253	CAT		0.378	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			T	111463966	C	T	111463966	3	4	43	1	0	0	0	0	1	0	0	0	5130	826	29	2	1913	2	ENPEP	4	111463966	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08	107976641	111463966	79690310	20	3101											
SPCS3	60559	broad.mit.edu	37	4	177248330	177248330	+	Silent	SNP	C	C	T	rs569036179		TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr4:177248330C>T	ENST00000503362.1	+	4	425	c.312C>T	c.(310-312)gtC>gtT	p.V104V	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	104					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		ACCAAGTTGTCCTATGGGACA	0.308													C|||	1	0.000199681	0.0	0.0	5008	,	,		16582	0.001		0.0	False		,,,				2504	0.0															0													39	37	38					4																	177248330		1805	4062	5867	SO:0001819	synonymous_variant	60559			AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.312C>T	4.37:g.177248330C>T			P12280|Q9H0S7	Silent	SNP	ENST00000503362.1	37	CCDS54823.1																																																																																				0.308	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928		T	177248330	C	T	177248330	2	4	43	1	0	0	0	0	0	0	0	1	15030	842	30	2		2	SPCS3	4	177248330	Silent	SNP	C	TCGA-A3-3317-01A-01D-0966-08	65784364	177248330	13905946	21	3102											
TTC33	23548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	40716581	40716581	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr5:40716581A>C	ENST00000337702.4	-	5	607	c.455T>G	c.(454-456)gTa>gGa	p.V152G	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	152										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GTGAAGGGCTACTTGAAAACT	0.373																																																0													106	110	108					5																	40716581		2203	4300	6503	SO:0001583	missense	23548			BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"Tetratricopeptide (TTC) repeat domain containing"	29959	protein-coding gene	gene with protein product	"osmosis responsive factor"					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.455T>G	5.37:g.40716581A>C	ENSP00000338533:p.Val152Gly		B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.395648	0.42512	.	.	ENSG00000113638	ENST00000337702	T	0.73897	-0.79	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.159286	0.56097	D	0.000031	T	0.70979	0.3286	L	0.56769	1.78	0.80722	D	1	B	0.32128	0.357	B	0.31191	0.125	T	0.68663	-0.5349	10	0.30078	T	0.28	-16.2897	16.1418	0.81533	1.0:0.0:0.0:0.0	.	152	Q6PID6	TTC33_HUMAN	G	152	ENSP00000338533:V152G	ENSP00000338533:V152G	V	-	2	0	TTC33	40752338	0.997000	0.39634	0.999000	0.59377	0.974000	0.67602	7.498000	0.81546	2.203000	0.70933	0.528000	0.53228	GTA		0.373	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		C	40716581	A	C	40716581	3	2	43	1	0	0	0	0	1	0	0	0	16707	391	14	5	337	5	TTC33	5	40716581	Missense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08		40716581	140198679	22	3103											
ITGA1	3672	broad.mit.edu	37	5	52221113	52221113	+	Silent	SNP	C	C	G	rs201717960		TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr5:52221113C>G	ENST00000282588.6	+	19	2867	c.2409C>G	c.(2407-2409)ccC>ccG	p.P803P		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	803					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCAGATTCCCTTTGCCAAAG	0.393																																																0													69	69	69					5																	52221113		2203	4300	6503	SO:0001819	synonymous_variant	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2409C>G	5.37:g.52221113C>G			B2RNU0	Silent	SNP	ENST00000282588.6	37	CCDS3955.1																																																																																				0.393	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		G	52221113	C	G	52221113	2	3	43	1	0	0	0	0	0	0	0	1	7874	668	24	4		4	ITGA1	5	52221113	Silent	SNP	C	TCGA-A3-3317-01A-01D-0966-08	11504532	52221113	128694147	23	3104											
ARSB	411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	78076227	78076227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr5:78076227C>T	ENST00000264914.4	-	8	2131	c.1595G>A	c.(1594-1596)tGg>tAg	p.W532*		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	532					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		ATCCTACATCCAAGGGCCCCA	0.532																																					Melanoma(169;563 1968 25780 26156 52266)											0													57	54	55					5																	78076227		2203	4298	6501	SO:0001587	stop_gained	411			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1595G>A	5.37:g.78076227C>T	ENSP00000264914:p.Trp532*		B2RC20|Q8N322|Q9UDI9	Nonsense_Mutation	SNP	ENST00000264914.4	37	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	43	10.069172	0.99330	.	.	ENSG00000113273	ENST00000264914	.	.	.	5.3	5.3	0.74995	.	0.122412	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9763	0.89128	0.0:1.0:0.0:0.0	.	.	.	.	X	532	.	ENSP00000264914:W532X	W	-	2	0	ARSB	78111983	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.534000	0.73833	2.476000	0.83614	0.555000	0.69702	TGG		0.532	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		T	78076227	C	T	78076227	4	4	43	1	0	0	0	0	0	1	0	0	988	595	21	2	10	2	ARSB	5	78076227	Nonsense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08	25855114	78076227	102839033	24	3105											
ERAP1	51752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	96139528	96139528	+	Silent	SNP	G	G	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr5:96139528G>A	ENST00000443439.2	-	2	168	c.102C>T	c.(100-102)agC>agT	p.S34S	CTD-2260A17.3_ENST00000606656.1_RNA|ERAP1_ENST00000296754.3_Silent_p.S34S|CTD-2260A17.3_ENST00000606346.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	34					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		ATGCTTCAGTGCTCTGACACC	0.453																																																0													116	98	105					5																	96139528		2203	4300	6503	SO:0001819	synonymous_variant	51752			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.102C>T	5.37:g.96139528G>A			O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Silent	SNP	ENST00000443439.2	37	CCDS47250.1																																																																																				0.453	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		A	96139528	G	A	96139528	2	1	43	1	0	0	0	0	0	0	0	1	5205	1310	46	2		2	ERAP1	5	96139528	Silent	SNP	G	TCGA-A3-3317-01A-01D-0966-08	18063301	96139528	84775732	25	3106											
PDLIM4	8572	broad.mit.edu;hgsc.bcm.edu	37	5	131607572	131607572	+	Silent	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr5:131607572C>T	ENST00000253754.3	+	6	823	c.759C>T	c.(757-759)ccC>ccT	p.P253P	PDLIM4_ENST00000379018.3_Intron|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	253	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGGGCTGCCCGAGTGCACGC	0.736																																																0																																										SO:0001819	synonymous_variant	8572			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.759C>T	5.37:g.131607572C>T			B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Silent	SNP	ENST00000253754.3	37	CCDS4152.1																																																																																				0.736	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		T	131607572	C	T	131607572	2	4	43	1	0	0	0	0	0	0	0	1	11684	639	23	1		1	PDLIM4	5	131607572	Silent	SNP	C	TCGA-A3-3317-01A-01D-0966-08	35468044	131607572	49307688	26	3107											
PCDHA5	56143	broad.mit.edu;hgsc.bcm.edu	37	5	140202644	140202644	+	Silent	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr5:140202644C>T	ENST00000529859.1	+	1	1284	c.1284C>T	c.(1282-1284)gaC>gaT	p.D428D	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.D428D|PCDHA5_ENST00000378126.3_Silent_p.D428D|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGCGGGACGGGGGCTCGC	0.647																																																0													89	94	92					5																	140202644		2203	4299	6502	SO:0001819	synonymous_variant	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1284C>T	5.37:g.140202644C>T			O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	CCDS54917.1																																																																																				0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		T	140202644	C	T	140202644	2	4	43	1	0	0	0	0	0	0	0	1	11529	535	19	1		1	PCDHA5	5	140202644	Silent	SNP	C	TCGA-A3-3317-01A-01D-0966-08	8595072	140202644	40712616	27	3108											
PROP1	5626	broad.mit.edu;hgsc.bcm.edu	37	5	177421243	177421243	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr5:177421243C>T	ENST00000308304.2	-	2	514	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	69					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGCGGCGCCGGGAGTGCGG	0.652																																																0													36	39	38					5																	177421243		2203	4300	6503	SO:0001583	missense	5626			AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.206G>A	5.37:g.177421243C>T	ENSP00000311290:p.Arg69Gln			Missense_Mutation	SNP	ENST00000308304.2	37	CCDS4430.1	.	.	.	.	.	.	.	.	.	.	.	15.81	2.942452	0.53079	.	.	ENSG00000175325	ENST00000308304	D	0.95447	-3.71	3.33	3.33	0.38152	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.37483	N	0.002063	D	0.94489	0.8226	L	0.36672	1.1	0.48040	D	0.999577	D	0.69078	0.997	D	0.70227	0.968	D	0.91423	0.5160	10	0.24483	T	0.36	-15.7293	6.665	0.23035	0.0:0.8647:0.0:0.1353	.	69	O75360	PROP1_HUMAN	Q	69	ENSP00000311290:R69Q	ENSP00000311290:R69Q	R	-	2	0	PROP1	177353849	0.980000	0.34600	0.996000	0.52242	0.283000	0.27025	0.784000	0.26816	1.902000	0.55061	0.485000	0.47835	CGG		0.652	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		T	177421243	C	T	177421243	3	4	43	1	0	0	0	0	1	0	0	0	12562	652	23	1	482	1	PROP1	5	177421243	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08	37218599	177421243	3494017	28	3109											
WDR46	9277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33248690	33248691	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr6:33248690_33248691GT>AA	ENST00000374617.4	-	11	1545_1546	c.1189_1190AC>TT	c.(1189-1191)ACt>TTt	p.T397F	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	397							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CAGGGTCCGAGTGCTCAGAGGC	0.599																																																0																																										SO:0001583	missense	9277			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1189_1190delinsAA	6.37:g.33248690_33248691delinsAA	ENSP00000363746:p.Thr397Phe		A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	CCDS4772.1																																																																																				0.599	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		AA	33248691	GT	AA	33248690	3	1	43	1	0	0	0	0	1	0	0	0	17304	1029	36	2	662	2	WDR46	6	33248690	Missense_Mutation	DNP	GT	TCGA-A3-3317-01A-01D-0966-08		33248690	137866377	29	3110											
KIFC1	3833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33374604	33374604	+	Silent	SNP	G	G	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr6:33374604G>T	ENST00000428849.2	+	10	2379	c.1929G>T	c.(1927-1929)ctG>ctT	p.L643L		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	643	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						TTTCTCCACTGGAAGAGAACG	0.547																																																0													117	105	109					6																	33374604		2203	4300	6503	SO:0001819	synonymous_variant	3833			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.1929G>T	6.37:g.33374604G>T			O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Silent	SNP	ENST00000428849.2	37	CCDS34430.1																																																																																				0.547	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		T	33374604	G	T	33374604	2	4	43	1	0	0	0	0	0	0	0	1	8314	1335	47	4		4	KIFC1	6	33374604	Silent	SNP	G	TCGA-A3-3317-01A-01D-0966-08	125914	33374604	137740463	30	3111											
LPA	4018	broad.mit.edu	37	6	161032706	161032706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr6:161032706C>A	ENST00000316300.5	-	16	2535	c.2491G>T	c.(2491-2493)Gga>Tga	p.G831*	LPA_ENST00000447678.1_Nonsense_Mutation_p.G831*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3339	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAACTCTGTCCATTACCGTGG	0.478																																																0													89	95	93					6																	161032706		1157	2473	3630	SO:0001587	stop_gained	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2491G>T	6.37:g.161032706C>A	ENSP00000321334:p.Gly831*		Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	23.4	4.408217	0.83340	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.17	2.17	0.27698	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.8282	0.29328	0.0:1.0:0.0:0.0	.	.	.	.	X	831	.	ENSP00000321334:G831X	G	-	1	0	LPA	160952696	0.659000	0.27411	0.008000	0.14137	0.070000	0.16714	3.656000	0.54467	1.217000	0.43442	0.194000	0.17425	GGA		0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		A	161032706	C	A	161032706	4	1	43	1	0	0	0	0	0	1	0	0	8905	603	21	4	3727	4	LPA	6	161032706	Nonsense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08	127658102	161032706	10082361	31	3112											
RAC1	5879	broad.mit.edu	37	7	6442071	6442071	+	Silent	SNP	G	G	C	rs538973654		TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr7:6442071G>C	ENST00000348035.4	+	6	786	c.573G>C	c.(571-573)ctG>ctC	p.L191L	RAC1_ENST00000356142.4_Silent_p.L210L|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	191					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	AATGCCTGCTGTTGTAAATGT	0.468																																																0													39	42	41					7																	6442071		2202	4288	6490	SO:0001819	synonymous_variant	5879			AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"Endogenous ligands"	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.573G>C	7.37:g.6442071G>C			O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Silent	SNP	ENST00000348035.4	37	CCDS5348.1																																																																																				0.468	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		C	6442071	G	C	6442071	2	2	43	1	0	0	0	0	0	0	0	1	12980	1364	48	4		4	RAC1	7	6442071	Silent	SNP	G	TCGA-A3-3317-01A-01D-0966-08		6442071	152696592	32	3113											
ZNF12	7559	broad.mit.edu;hgsc.bcm.edu	37	7	6731607	6731607	+	Silent	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr7:6731607C>T	ENST00000405858.1	-	5	1507	c.966G>A	c.(964-966)gaG>gaA	p.E322E	AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Silent_p.E284E|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Silent_p.E248E	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	322					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CATAGGGCTTCTCCCCTGTGT	0.453																																																0													67	73	71					7																	6731607		2202	4300	6502	SO:0001819	synonymous_variant	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.966G>A	7.37:g.6731607C>T			A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Silent	SNP	ENST00000405858.1	37	CCDS47538.1																																																																																				0.453	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		T	6731607	C	T	6731607	2	4	43	1	0	0	0	0	0	0	0	1	17723	912	32	2		2	ZNF12	7	6731607	Silent	SNP	C	TCGA-A3-3317-01A-01D-0966-08	289536	6731607	152407056	33	3114											
PODXL	5420	hgsc.bcm.edu	37	7	131241055	131241055	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr7:131241055A>G	ENST00000378555.3	-	1	311	c.64T>C	c.(64-66)Tcg>Ccg	p.S22P	PODXL_ENST00000537928.1_Missense_Mutation_p.S22P|PODXL_ENST00000541194.1_Missense_Mutation_p.S22P|PODXL_ENST00000322985.9_Missense_Mutation_p.S22P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	22					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					gacggcgacgacggcagcagc	0.741																																																0													5	8	7					7																	131241055		1914	3836	5750	SO:0001583	missense	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.64T>C	7.37:g.131241055A>G	ENSP00000367817:p.Ser22Pro		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	A	10.93	1.488975	0.26686	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000378555;ENST00000322985	T;T;T;T	0.12774	2.82;2.65;2.82;2.85	.	.	.	.	7739.210000	0.00166	U	0.000000	T	0.08670	0.0215	N	0.14661	0.345	0.09310	N	0.999994	.	.	.	.	.	.	T	0.24728	-1.0152	6	0.29301	T	0.29	.	.	.	.	.	22;22	O00592-2;O00592	.;PODXL_HUMAN	P	22	ENSP00000440518:S22P;ENSP00000442655:S22P;ENSP00000367817:S22P;ENSP00000319782:S22P	ENSP00000319782:S22P	S	-	1	0	PODXL	130891595	0.001000	0.12720	0.027000	0.17364	0.027000	0.11550	0.743000	0.26231	0.056000	0.16144	0.055000	0.15244	TCG		0.741	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		G	131241055	A	G	131241055	3	3	43	1	0	0	0	0	1	0	0	0	12182	275	10	3	1648	3	PODXL	7	131241055	Missense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08	124509448	131241055	27897608	34	3115											
TUSC3	7991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	15531300	15531300	+	Silent	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr8:15531300C>T	ENST00000503731.1	+	6	901	c.753C>T	c.(751-753)atC>atT	p.I251I	TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000506802.1_Silent_p.I251I|TUSC3_ENST00000382020.4_Silent_p.I251I|TUSC3_ENST00000509380.1_Silent_p.I251I	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	251					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GGAACCATATCCGTGGACCTC	0.383																																																0													165	139	148					8																	15531300		2203	4300	6503	SO:0001819	synonymous_variant	7991			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.753C>T	8.37:g.15531300C>T			A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Silent	SNP	ENST00000503731.1	37	CCDS5994.1																																																																																				0.383	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		T	15531300	C	T	15531300	2	4	43	1	0	0	0	0	0	0	0	1	16783	845	30	2		2	TUSC3	8	15531300	Silent	SNP	C	TCGA-A3-3317-01A-01D-0966-08		15531300	130832722	35	3116											
NOTCH1	4851	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139410507	139410507	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr9:139410507C>T	ENST00000277541.6	-	10	1670	c.1595G>A	c.(1594-1596)tGt>tAt	p.C532Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	532	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTGCTGGCACACTCGTCCAC	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													51	58	56					9																	139410507		2066	4196	6262	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1595G>A	9.37:g.139410507C>T	ENSP00000277541:p.Cys532Tyr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154164	0.78114	.	.	ENSG00000148400	ENST00000277541	D	0.99992	-12.4	5.02	5.02	0.67125	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99996	1.5492	10	0.87932	D	0	.	17.3208	0.87235	0.0:1.0:0.0:0.0	.	532	P46531	NOTC1_HUMAN	Y	532	ENSP00000277541:C532Y	ENSP00000277541:C532Y	C	-	2	0	NOTCH1	138530328	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	7.252000	0.78309	2.314000	0.78098	0.563000	0.77884	TGT		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		T	139410507	C	T	139410507	3	4	43	1	0	0	0	0	1	0	0	0	10549	478	17	2	6172	2	NOTCH1	9	139410507	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08		139410507	1802924	36	3117											
C10orf76	79591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103750317	103750317	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr10:103750317T>C	ENST00000370033.4	-	19	1516	c.1397A>G	c.(1396-1398)gAt>gGt	p.D466G		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	466						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CATATAGAGATCCATAGGAAA	0.348																																																0													128	123	124					10																	103750317		1817	4092	5909	SO:0001583	missense	79591			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1397A>G	10.37:g.103750317T>C	ENSP00000359050:p.Asp466Gly		Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220406	0.79464	.	.	ENSG00000120029	ENST00000370033;ENST00000431271;ENST00000263485;ENST00000456149	T	0.68624	-0.34	5.86	5.86	0.93980	Domain of unknown function DUF1741 (1);	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	L	0.35793	1.09	0.80722	D	1	P	0.51057	0.941	P	0.51657	0.676	T	0.71447	-0.4590	10	0.72032	D	0.01	-16.3984	14.819	0.70055	0.0:0.0:0.0:1.0	.	466	Q5T2E6	CJ076_HUMAN	G	466;41;92;92	ENSP00000359050:D466G	ENSP00000263485:D92G	D	-	2	0	C10orf76	103740307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.800000	0.69108	2.241000	0.73720	0.533000	0.62120	GAT		0.348	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		C	103750317	T	C	103750317	3	2	43	1	0	0	0	0	1	0	0	0	1618	1435	50	3	704	3	C10orf76	10	103750317	Missense_Mutation	SNP	T	TCGA-A3-3317-01A-01D-0966-08		103750317	31784430	37	3118											
VENTX	27287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	135053527	135053527	+	Missense_Mutation	SNP	C	C	A	rs150065198	byFrequency	TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr10:135053527C>A	ENST00000325980.9	+	3	1005	c.494C>A	c.(493-495)gCg>gAg	p.A165E		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	165					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TCTCTCCATGCGCCCCCAGCT	0.597																																																0													47	52	50					10																	135053527		2203	4300	6503	SO:0001583	missense	27287			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.494C>A	10.37:g.135053527C>A	ENSP00000357556:p.Ala165Glu		Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	4.298	0.054491	0.08291	.	.	ENSG00000151650	ENST00000325980	D	0.91180	-2.8	2.68	-0.57	0.11753	.	1.766420	0.03653	N	0.241412	T	0.79499	0.4456	N	0.08118	0	0.09310	N	1	B	0.28055	0.199	B	0.25614	0.062	T	0.68224	-0.5465	10	0.30854	T	0.27	.	6.0163	0.19605	0.0:0.6695:0.1938:0.1367	.	165	O95231	VENTX_HUMAN	E	165	ENSP00000357556:A165E	ENSP00000357556:A165E	A	+	2	0	VENTX	134903517	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.976000	0.03786	-0.269000	0.09298	-1.426000	0.01102	GCG		0.597	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		A	135053527	C	A	135053527	3	1	43	1	0	0	0	0	1	0	0	0	17158	768	27	4	504	4	VENTX	10	135053527	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08	31303210	135053527	481220	38	3119											
CARS	833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	3050597	3050597	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr11:3050597G>C	ENST00000397111.5	-	7	874	c.629C>G	c.(628-630)tCc>tGc	p.S210C	CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000401769.3_Missense_Mutation_p.S223C|CARS_ENST00000278224.9_Missense_Mutation_p.S210C|CARS_ENST00000397114.3_Missense_Mutation_p.S200C|CARS_ENST00000380525.4_Missense_Mutation_p.S293C			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	210					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GGAGAAGATGGAATTGTCAGT	0.483			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													100	99	99					11																	3050597		2202	4298	6500	SO:0001583	missense	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.629C>G	11.37:g.3050597G>C	ENSP00000380300:p.Ser210Cys		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684101	0.68157	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.48522	0.81;0.83;0.83;0.82;0.82	3.9	2.98	0.34508	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	M	0.90650	3.135	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.998;1.0	D;D;D;D;D;D	0.79108	0.984;0.984;0.992;0.987;0.984;0.992	T	0.75551	-0.3278	10	0.62326	D	0.03	-25.42	11.4874	0.50361	0.0905:0.0:0.9095:0.0	.	223;293;210;210;293;200	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	C	293;210;210;200;223	ENSP00000369897:S293C;ENSP00000380300:S210C;ENSP00000278224:S210C;ENSP00000380303:S200C;ENSP00000384069:S223C	ENSP00000278224:S210C	S	-	2	0	CARS	3007173	1.000000	0.71417	0.934000	0.37439	0.908000	0.53690	8.603000	0.90871	0.829000	0.34733	0.555000	0.69702	TCC		0.483	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		C	3050597	G	C	3050597	3	2	43	1	0	0	0	0	1	0	0	0	2659	1174	41	4	1689	4	CARS	11	3050597	Missense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08		3050597	131955919	39	3120											
SLC6A5	9152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	20676346	20676347	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr11:20676346_20676347CC>TT	ENST00000525748.1	+	16	2599_2600	c.2326_2327CC>TT	c.(2326-2328)CCc>TTc	p.P776F	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	776					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CATGATCGACCCCTTGGGAACC	0.559																																																0																																										SO:0001583	missense	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	Exception_encountered	11.37:g.20676346_20676347delinsTT	ENSP00000434364:p.Pro776Phe		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1																																																																																				0.559	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		TT	20676347	CC	TT	20676346	3	4	43	1	0	0	0	0	1	0	0	0	14693	623	22	2	2388	2	SLC6A5	11	20676346	Missense_Mutation	DNP	CC	TCGA-A3-3317-01A-01D-0966-08	17625749	20676346	114330170	40	3121											
ACCS	84680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	44096169	44096169	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr11:44096169G>A	ENST00000263776.8	+	5	861	c.427G>A	c.(427-429)Gag>Aag	p.E143K	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Missense_Mutation_p.G119E|CTD-2609K8.3_ENST00000531268.1_RNA	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	143					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CAGCCTCCGGGAGGAAGTGGC	0.562																																					Esophageal Squamous(158;148 1889 8077 23160 41213)											0													179	161	167					11																	44096169		2203	4300	6503	SO:0001583	missense	84680			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.427G>A	11.37:g.44096169G>A	ENSP00000263776:p.Glu143Lys		B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	CCDS7907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.71|12.71	2.020706|2.020706	0.35606|0.35606	.|.	.|.	ENSG00000110455|ENSG00000110455	ENST00000263776|ENST00000432284	T|T	0.24723|0.38401	1.84|1.14	5.78|5.78	3.88|3.88	0.44766|0.44766	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.101782|.	0.64402|.	D|.	0.000003|.	T|T	0.21674|0.21674	0.0522|0.0522	N|N	0.17248|0.17248	0.465|0.465	0.30778|0.30778	N|N	0.742278|0.742278	B;B|B	0.26935|0.27997	0.164;0.012|0.197	B;B|B	0.26310|0.22386	0.047;0.068|0.039	T|T	0.13683|0.13683	-1.0500|-1.0500	10|9	0.08599|0.24483	T|T	0.76|0.36	-16.1246|-16.1246	11.2621|11.2621	0.49089|0.49089	0.1477:0.0:0.8523:0.0|0.1477:0.0:0.8523:0.0	.|.	70;143|119	B4DYM9;Q96QU6|B4E219	.;1A1L1_HUMAN|.	K|E	143|119	ENSP00000263776:E143K|ENSP00000391775:G119E	ENSP00000263776:E143K|ENSP00000391775:G119E	E|G	+|+	1|2	0|0	ACCS|ACCS	44052745|44052745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.406000|4.406000	0.59748|0.59748	1.419000|1.419000	0.47118|0.47118	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.562	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		A	44096169	G	A	44096169	3	1	43	1	0	0	0	0	1	0	0	0	133	1175	41	2	441	2	ACCS	11	44096169	Missense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08	23419823	44096169	90910347	41	3122											
GIF	2694	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	59611470	59611470	+	Silent	SNP	C	C	T	rs200472519		TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr11:59611470C>T	ENST00000257248.2	-	2	185	c.138G>A	c.(136-138)tcG>tcA	p.S46S	GIF_ENST00000541311.1_Silent_p.S21S	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	46			S -> L (in IFD). {ECO:0000269|PubMed:15738392}.		cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	ATGAAGTCACCGAGTTCTCCA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18373	0.001		0.0	False		,,,				2504	0.0				NSCLC(53;1139 1245 16872 38474 42853)											0													127	110	116					11																	59611470		2201	4295	6496	SO:0001819	synonymous_variant	2694			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.138G>A	11.37:g.59611470C>T			B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	CCDS7977.1																																																																																				0.512	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		T	59611470	C	T	59611470	2	4	43	1	0	0	0	0	0	0	0	1	6378	639	23	1		1	GIF	11	59611470	Silent	SNP	C	TCGA-A3-3317-01A-01D-0966-08	15515301	59611470	75395046	42	3123											
ATG2A	23130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64673943	64673943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr11:64673943G>A	ENST00000377264.3	-	21	3158	c.3046C>T	c.(3046-3048)Cag>Tag	p.Q1016*	ATG2A_ENST00000421419.2_Nonsense_Mutation_p.Q1016*	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1016					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGGCCAGCTGAGCCGGGGGA	0.687																																																0													33	41	38					11																	64673943		2201	4297	6498	SO:0001587	stop_gained	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3046C>T	11.37:g.64673943G>A	ENSP00000366475:p.Gln1016*		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Nonsense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.031055|7.031055	0.98013|0.98013	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.196963|.	0.43919|.	D|.	0.000516|.	.|T	.|0.56455	.|0.1986	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64622	.|-0.6364	.|3	0.02654|.	T|.	1|.	.|.	11.5776|11.5776	0.50873|0.50873	0.0:0.0:0.8217:0.1783|0.0:0.0:0.8217:0.1783	.|.	.|.	.|.	.|.	X|L	1016|817	.|.	ENSP00000366475:Q1016X|.	Q|S	-|-	1|2	0|0	ATG2A|ATG2A	64430519|64430519	0.976000|0.976000	0.34144|0.34144	0.960000|0.960000	0.40013|0.40013	0.699000|0.699000	0.40488|0.40488	2.337000|2.337000	0.43947|0.43947	2.574000|2.574000	0.86865|0.86865	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.687	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		A	64673943	G	A	64673943	4	1	43	1	0	0	0	0	0	1	0	0	1093	1299	45	2	2854	2	ATG2A	11	64673943	Nonsense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08	5062473	64673943	70332573	43	3124											
ACCN2	41	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50453582	50453582	+	Silent	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr12:50453582C>T	ENST00000447966.2	+	3	632	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	ASIC1_ENST00000228468.4_Silent_p.L135L	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	135					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TGAAAAGCAGCTGGAGATACT	0.537																																																0													130	103	112					12																	50453582		2203	4300	6503	SO:0001819	synonymous_variant	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.403C>T	12.37:g.50453582C>T			A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	CCDS44876.1																																																																																				0.537	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		T	50453582	C	T	50453582	2	4	43	1	0	0	0	0	0	0	0	1	129	796	28	2		2	ACCN2	12	50453582	Silent	SNP	C	TCGA-A3-3317-01A-01D-0966-08		50453582	83398313	44	3125											
TBC1D15	64786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	72278663	72278663	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr12:72278663A>G	ENST00000550746.1	+	5	480	c.416A>G	c.(415-417)aAg>aGg	p.K139R	TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Missense_Mutation_p.K147R|TBC1D15_ENST00000485960.2_Missense_Mutation_p.K139R	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	139					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATCAATCAAGCAAAACAAA	0.403																																																0													197	193	194					12																	72278663		2203	4300	6503	SO:0001583	missense	64786			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.416A>G	12.37:g.72278663A>G	ENSP00000448182:p.Lys139Arg		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	A	5.312	0.242949	0.10077	.	.	ENSG00000121749	ENST00000482439;ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.76	5.76	0.90799	Domain of unknown function DUF3548 (1);	0.098913	0.64402	D	0.000002	T	0.36936	0.0985	N	0.20986	0.625	0.80722	D	1	D;D;D	0.76494	0.967;0.96;0.999	P;P;D	0.81914	0.782;0.695;0.995	T	0.08932	-1.0698	10	0.02654	T	1	-12.3433	16.0665	0.80887	1.0:0.0:0.0:0.0	.	147;139;139	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	R	40;139;40;147;139	ENSP00000449643:K40R;ENSP00000448182:K139R;ENSP00000418091:K40R;ENSP00000318262:K147R;ENSP00000420678:K139R	ENSP00000318262:K147R	K	+	2	0	TBC1D15	70564930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.939000	0.56591	2.185000	0.69588	0.482000	0.46254	AAG		0.403	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		G	72278663	A	G	72278663	3	3	43	1	0	0	0	0	1	0	0	0	15609	72	3	3	558	3	TBC1D15	12	72278663	Missense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08	21825081	72278663	61573232	45	3126											
FARP1	10160	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	99098408	99098408	+	Silent	SNP	G	G	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr13:99098408G>A	ENST00000319562.6	+	25	3118	c.2853G>A	c.(2851-2853)aaG>aaA	p.K951K	FARP1_ENST00000595437.1_Silent_p.K982K|FARP1_ENST00000376586.2_Silent_p.K982K	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	951	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGTGGCAGAAGCTGTGGGTGG	0.552											OREG0022474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													108	106	107					13																	99098408		2203	4300	6503	SO:0001819	synonymous_variant	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2853G>A	13.37:g.99098408G>A		1341	Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	CCDS9487.1																																																																																				0.552	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		A	99098408	G	A	99098408	2	1	43	1	0	0	0	0	0	0	0	1	5678	962	34	2		2	FARP1	13	99098408	Silent	SNP	G	TCGA-A3-3317-01A-01D-0966-08		99098408	16071470	46	3127											
PCCA	5095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	100925589	100925589	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr13:100925589A>T	ENST00000376285.1	+	12	1092	c.1054A>T	c.(1054-1056)Aca>Tca	p.T352S	PCCA_ENST00000376279.3_Missense_Mutation_p.T352S|PCCA_ENST00000376286.4_Missense_Mutation_p.T326S	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	352	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GGAAATGAATACAAGACTCCA	0.378																																																0													64	68	67					13																	100925589		2203	4300	6503	SO:0001583	missense	5095			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1054A>T	13.37:g.100925589A>T	ENSP00000365462:p.Thr352Ser		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585703	0.86748	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97831	-4.56;-4.56;-4.56	5.55	4.34	0.51931	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Biotin carboxylation domain (1);	0.049050	0.85682	N	0.000000	D	0.98798	0.9595	M	0.91972	3.26	0.58432	D	0.999999	D;D;D	0.89917	0.991;1.0;0.991	D;D;D	0.77557	0.961;0.99;0.961	D	0.99211	1.0876	10	0.87932	D	0	.	12.0782	0.53655	0.8709:0.0:0.0:0.1291	.	352;326;352	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	S	326;352;352	ENSP00000365463:T326S;ENSP00000365456:T352S;ENSP00000365462:T352S	ENSP00000365456:T352S	T	+	1	0	PCCA	99723590	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	9.229000	0.95273	0.997000	0.38969	0.528000	0.53228	ACA		0.378	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			T	100925589	A	T	100925589	3	4	43	1	0	0	0	0	1	0	0	0	11506	391	14	5	1100	5	PCCA	13	100925589	Missense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08	1827181	100925589	14244289	47	3128											
IPO4	79711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24657425	24657425	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr14:24657425G>C	ENST00000354464.6	-	4	451	c.275C>G	c.(274-276)aCa>aGa	p.T92R	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	92					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TACTTACTCTGTTTCTCTCTG	0.567																																																0													81	88	86					14																	24657425		1917	4137	6054	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.275C>G	14.37:g.24657425G>C	ENSP00000346453:p.Thr92Arg		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723985	0.30593	.	.	ENSG00000196497	ENST00000354464	T	0.05199	3.48	4.58	2.57	0.30868	Armadillo-like helical (1);Armadillo-type fold (1);	0.191775	0.42821	N	0.000642	T	0.04003	0.0112	N	0.14661	0.345	0.42295	D	0.992156	B	0.12013	0.005	B	0.15484	0.013	T	0.43669	-0.9377	10	0.16896	T	0.51	.	12.6477	0.56744	0.0:0.3166:0.6834:0.0	.	92	Q8TEX9	IPO4_HUMAN	R	92	ENSP00000346453:T92R	ENSP00000346453:T92R	T	-	2	0	IPO4	23727265	0.998000	0.40836	0.974000	0.42286	0.884000	0.51177	2.901000	0.48695	1.260000	0.44134	0.563000	0.77884	ACA		0.567	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		C	24657425	G	C	24657425	3	2	43	1	0	0	0	0	1	0	0	0	7797	1377	48	4	3078	4	IPO4	14	24657425	Missense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08		24657425	82692115	48	3129											
TINF2	26277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24710922	24710922	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr14:24710922G>T	ENST00000267415.7	-	3	699	c.358C>A	c.(358-360)Cag>Aag	p.Q120K	TINF2_ENST00000559019.1_Intron|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000558566.1_Missense_Mutation_p.Q120K|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000399423.4_Missense_Mutation_p.Q120K|TINF2_ENST00000540705.1_Missense_Mutation_p.Q85K	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	120					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TCTGACAGCTGCTTCACCTGC	0.438									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																																							0													53	50	51					14																	24710922		1867	4111	5978	SO:0001583	missense	26277	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.358C>A	14.37:g.24710922G>T	ENSP00000267415:p.Gln120Lys		B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517720	0.27123	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423	T;T;T	0.40756	1.02;1.02;1.02	5.09	2.2	0.27929	.	0.974936	0.08451	N	0.943893	T	0.33876	0.0878	L	0.60455	1.87	0.80722	D	1	P;B;B	0.36249	0.545;0.372;0.372	B;B;B	0.35770	0.21;0.15;0.15	T	0.17077	-1.0381	10	0.14656	T	0.56	-7.7219	3.6647	0.08252	0.0903:0.166:0.5718:0.1719	.	85;120;120	B4DFJ1;Q9BSI4-2;Q9BSI4	.;.;TINF2_HUMAN	K	120;85;120	ENSP00000267415:Q120K;ENSP00000442154:Q85K;ENSP00000382350:Q120K	ENSP00000267415:Q120K	Q	-	1	0	TINF2	23780762	0.974000	0.33945	0.890000	0.34922	0.404000	0.30871	0.754000	0.26390	0.291000	0.22468	-0.521000	0.04368	CAG		0.438	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			T	24710922	G	T	24710922	3	4	43	1	0	0	0	0	1	0	0	0	15928	1328	46	4	1029	4	TINF2	14	24710922	Missense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08	53497	24710922	82638618	49	3130											
AKAP6	9472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	33068660	33068660	+	Silent	SNP	T	T	A	rs144892695		TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr14:33068660T>A	ENST00000280979.4	+	6	2684	c.2514T>A	c.(2512-2514)gcT>gcA	p.A838A	AKAP6_ENST00000557272.1_Silent_p.A838A|AKAP6_ENST00000557354.1_Silent_p.A838A	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	838					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCAAGGAAGCTGTGGAGGAGG	0.398																																					Melanoma(49;821 1200 7288 13647 42351)											0													157	145	149					14																	33068660		2203	4300	6503	SO:0001819	synonymous_variant	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2514T>A	14.37:g.33068660T>A			A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.398	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		A	33068660	T	A	33068660	2	1	43	1	0	0	0	0	0	0	0	1	455	1567	55	5		5	AKAP6	14	33068660	Silent	SNP	T	TCGA-A3-3317-01A-01D-0966-08	8357738	33068660	74280880	50	3131											
SLC8A3	6547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	70633975	70633975	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr14:70633975C>T	ENST00000381269.2	-	2	1918	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	SLC8A3_ENST00000357887.3_Missense_Mutation_p.D389N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D389N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D389N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D389N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	389	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCAGGCTCATCGGTGTGCACC	0.512																																																0													124	114	117					14																	70633975		2203	4300	6503	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1165G>A	14.37:g.70633975C>T	ENSP00000370669:p.Asp389Asn		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	4.874	0.162377	0.09287	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.36520	1.3;1.25;1.39;1.32;1.39	5.83	3.97	0.46021	Na-Ca exchanger/integrin-beta4 (2);	0.415939	0.27976	N	0.017099	T	0.34424	0.0897	M	0.64170	1.965	0.50632	D	0.999881	B;B;B;B	0.09022	0.001;0.002;0.002;0.002	B;B;B;B	0.12837	0.005;0.005;0.008;0.008	T	0.09228	-1.0684	10	0.22706	T	0.39	.	11.8253	0.52263	0.0:0.8545:0.0:0.1455	.	389;389;389;389	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	389	ENSP00000349392:D389N;ENSP00000370669:D389N;ENSP00000350560:D389N;ENSP00000436688:D389N;ENSP00000433531:D389N	ENSP00000349392:D389N	D	-	1	0	SLC8A3	69703728	1.000000	0.71417	0.019000	0.16419	0.146000	0.21551	4.976000	0.63785	0.757000	0.33036	-0.148000	0.13756	GAT		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			T	70633975	C	T	70633975	3	4	43	1	0	0	0	0	1	0	0	0	14714	884	31	1	1757	1	SLC8A3	14	70633975	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08	37565315	70633975	36715565	51	3132											
AMN	81693	broad.mit.edu	37	14	103389067	103389067	+	Splice_Site	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr14:103389067C>T	ENST00000299155.5	+	1	75	c.42C>T	c.(40-42)tgC>tgT	p.C14C		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	14					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.C14C(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCAGCTCTGCGGTGAGCCGG	0.692																																																1	Substitution - coding silent(1)	large_intestine(1)											27	21	23					14																	103389067		2182	4280	6462	SO:0001630	splice_region_variant	81693			AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.43+1C>T	14.37:g.103389067C>T			Q6UX83	Silent	SNP	ENST00000299155.5	37	CCDS9977.1																																																																																				0.692	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1		Silent	T	103389067	C	T	103389067	5	4	43	1	0	0	0	0	0	0	1	0	580	782	27	1	44	1	AMN	14	103389067	Splice_Site	SNP	C	TCGA-A3-3317-01A-01D-0966-08	32755092	103389067	3960473	52	3133											
HERC2	8924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	28514431	28514431	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr15:28514431C>A	ENST00000261609.7	-	11	1517	c.1409G>T	c.(1408-1410)gGc>gTc	p.G470V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTACACGCGGCCATTGCGTGA	0.562																																																0													101	77	85					15																	28514431		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1409G>T	15.37:g.28514431C>A	ENSP00000261609:p.Gly470Val			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799499	0.70567	.	.	ENSG00000128731	ENST00000261609	D	0.87966	-2.32	5.74	5.74	0.90152	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94190	0.7440	10	0.87932	D	0	.	19.9883	0.97356	0.0:1.0:0.0:0.0	.	470	O95714	HERC2_HUMAN	V	470	ENSP00000261609:G470V	ENSP00000261609:G470V	G	-	2	0	HERC2	26188026	1.000000	0.71417	0.994000	0.49952	0.198000	0.23893	7.271000	0.78506	2.718000	0.92993	0.650000	0.86243	GGC		0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28514431	C	A	28514431	3	1	43	1	0	0	0	0	1	0	0	0	7060	739	26	4	13427	4	HERC2	15	28514431	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08		28514431	74016961	53	3134											
EIF2AK4	440275	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40299227	40299227	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr15:40299227C>G	ENST00000263791.5	+	24	3411	c.3368C>G	c.(3367-3369)gCa>gGa	p.A1123G	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.A1095G|EIF2AK4_ENST00000559311.1_3'UTR	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1123	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ATCCCTTTTGCAAGATATGTG	0.299																																																0													72	65	67					15																	40299227		1797	4073	5870	SO:0001583	missense	440275			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3368C>G	15.37:g.40299227C>G	ENSP00000263791:p.Ala1123Gly		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885236	0.91814	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.56444	0.46;0.46	5.93	5.93	0.95920	.	0.053822	0.64402	D	0.000001	T	0.72993	0.3530	M	0.85373	2.75	0.80722	D	1	D;D	0.63046	0.99;0.992	P;P	0.56612	0.762;0.802	T	0.76948	-0.2770	10	0.87932	D	0	-17.0723	19.3318	0.94293	0.0:1.0:0.0:0.0	.	1095;1123	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	G	1123;1095	ENSP00000263791:A1123G;ENSP00000372174:A1095G	ENSP00000263791:A1123G	A	+	2	0	EIF2AK4	38086519	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.673000	0.74482	2.802000	0.96397	0.563000	0.77884	GCA		0.299	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			G	40299227	C	G	40299227	3	3	43	1	0	0	0	0	1	0	0	0	5001	710	25	4	3462	4	EIF2AK4	15	40299227	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08	11784796	40299227	62232165	54	3135											
LINGO1	84894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	77906716	77906716	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr15:77906716G>T	ENST00000355300.6	-	2	1707	c.1533C>A	c.(1531-1533)caC>caA	p.H511Q	LINGO1_ENST00000561030.1_Missense_Mutation_p.H505Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	511	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCACATGCAGGTGGGCGGGCA	0.662																																																0													51	56	54					15																	77906716		2127	4224	6351	SO:0001583	missense	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1533C>A	15.37:g.77906716G>T	ENSP00000347451:p.His511Gln		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040006	0.35989	.	.	ENSG00000169783	ENST00000355300	T	0.65549	-0.16	5.08	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	N	0.16602	0.42	0.80722	D	1	P	0.45428	0.858	B	0.40659	0.336	T	0.28427	-1.0044	10	0.30078	T	0.28	.	9.9124	0.41415	0.1566:0.0:0.8434:0.0	.	511	Q96FE5	LIGO1_HUMAN	Q	511	ENSP00000347451:H511Q	ENSP00000347451:H511Q	H	-	3	2	LINGO1	75693771	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.867000	0.63013	1.132000	0.42129	0.462000	0.41574	CAC		0.662	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		T	77906716	G	T	77906716	3	4	43	1	0	0	0	0	1	0	0	0	8816	1252	44	4	333	4	LINGO1	15	77906716	Missense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08	37607489	77906716	24624676	55	3136											
DNAJA3	9093	hgsc.bcm.edu;ucsc.edu	37	16	4504893	4504893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr16:4504893delT	ENST00000262375.6	+	11	1498	c.1421delT	c.(1420-1422)cttfs	p.L474fs	DNAJA3_ENST00000431375.2_Intron|DNAJA3_ENST00000355296.4_Intron	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	474					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CTTTCCAAACTTAAGAAAATG	0.498																																																0													79	76	77					16																	4504893		2197	4300	6497	SO:0001589	frameshift_variant	9093			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"Heat shock proteins / DNAJ (HSP40)"	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.1421delT	16.37:g.4504893delT	ENSP00000262375:p.Leu474fs		B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Frame_Shift_Del	DEL	ENST00000262375.6	37	CCDS10515.1																																																																																				0.498	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			-	4504893	T	-	4504893	7	5	43	1	0	1	0	1	0	0	0	0	4615	1609	56	0	1463	0	DNAJA3	16	4504893	Frame_Shift_Del	DEL	T	TCGA-A3-3317-01A-01D-0966-08		4504893	85849860	56	3137											
C16orf71	146562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4794979	4794979	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr16:4794979C>T	ENST00000299320.5	+	6	1488	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.P351L	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	337										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCCGACACTCCCCAGGACACC	0.612																																																0													57	53	55					16																	4794979		2197	4300	6497	SO:0001583	missense	146562			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1010C>T	16.37:g.4794979C>T	ENSP00000299320:p.Pro337Leu		Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	C	7.892	0.732628	0.15507	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.05513	3.43	4.02	-0.237	0.13061	.	1.023020	0.07792	N	0.955085	T	0.03136	0.0092	N	0.24115	0.695	0.09310	N	1	B	0.30851	0.297	B	0.27262	0.078	T	0.38286	-0.9668	10	0.02654	T	1	-3.0288	3.6116	0.08062	0.0:0.4733:0.1908:0.3359	.	337	Q8IYS4	CP071_HUMAN	L	337;92	ENSP00000299320:P337L	ENSP00000299320:P337L	P	+	2	0	C16orf71	4734980	0.000000	0.05858	0.027000	0.17364	0.060000	0.15804	0.042000	0.13949	-0.000000	0.14550	-0.258000	0.10820	CCC		0.612	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		T	4794979	C	T	4794979	3	4	43	1	0	0	0	0	1	0	0	0	1832	623	22	2	1028	2	C16orf71	16	4794979	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08	290086	4794979	85559774	57	3138											
DNAH3	55567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21033334	21033334	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr16:21033334T>G	ENST00000261383.3	-	40	5734	c.5735A>C	c.(5734-5736)cAc>cCc	p.H1912P	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1912					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAGGCAAGGTGGATGGGAGA	0.473																																																0													130	105	114					16																	21033334		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5735A>C	16.37:g.21033334T>G	ENSP00000261383:p.His1912Pro		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860085	0.51482	.	.	ENSG00000158486	ENST00000261383	T	0.27890	1.64	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	M	0.79258	2.445	0.80722	D	1	B	0.30686	0.29	B	0.28638	0.092	T	0.37596	-0.9699	10	0.66056	D	0.02	.	14.543	0.68008	0.0:0.0:0.0:1.0	.	1912	Q8TD57	DYH3_HUMAN	P	1912	ENSP00000261383:H1912P	ENSP00000261383:H1912P	H	-	2	0	DNAH3	20940835	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.285000	0.78660	1.835000	0.53391	0.379000	0.24179	CAC		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		G	21033334	T	G	21033334	3	3	43	1	0	0	0	0	1	0	0	0	4605	1696	59	5	6706	5	DNAH3	16	21033334	Missense_Mutation	SNP	T	TCGA-A3-3317-01A-01D-0966-08	16238355	21033334	69321419	58	3139											
CDH8	1006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	61689382	61689382	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr16:61689382A>C	ENST00000577390.1	-	11	2852	c.1898T>G	c.(1897-1899)tTg>tGg	p.L633W	CDH8_ENST00000577730.1_Missense_Mutation_p.L633W|CDH8_ENST00000299345.6_Missense_Mutation_p.L633W	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	633					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACCTAACAGCAAAATGATGCA	0.423																																																0													91	76	81					16																	61689382		2203	4300	6503	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1898T>G	16.37:g.61689382A>C	ENSP00000462701:p.Leu633Trp		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.733276	0.89482	.	.	ENSG00000150394	ENST00000299345	T	0.61627	0.09	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000002	T	0.69115	0.3075	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.72141	-0.4380	10	0.87932	D	0	.	15.0016	0.71476	1.0:0.0:0.0:0.0	.	633	P55286	CADH8_HUMAN	W	633	ENSP00000299345:L633W	ENSP00000299345:L633W	L	-	2	0	CDH8	60246883	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.904000	0.92590	2.146000	0.66826	0.459000	0.35465	TTG		0.423	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		C	61689382	A	C	61689382	3	2	43	1	0	0	0	0	1	0	0	0	3118	131	5	5	509	5	CDH8	16	61689382	Missense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08	40656048	61689382	28665371	59	3140											
MTHFSD	64779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	86565766	86565766	+	Silent	SNP	G	G	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr16:86565766G>T	ENST00000360900.6	-	8	1028	c.1003C>A	c.(1003-1005)Cgg>Agg	p.R335R	MTHFSD_ENST00000543303.2_Silent_p.R334R|MTHFSD_ENST00000546093.1_Silent_p.R172R|MTHFSD_ENST00000322911.6_Silent_p.R334R|MTHFSD_ENST00000381214.5_Silent_p.R335R	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	335	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGGTGAGCCGCAGGGGCACG	0.701																																																0													8	11	10					16																	86565766		1878	4092	5970	SO:0001819	synonymous_variant	64779			AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.1003C>A	16.37:g.86565766G>T			A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	37	CCDS54047.1																																																																																				0.701	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		T	86565766	G	T	86565766	2	4	43	1	0	0	0	0	0	0	0	1	9935	1086	38	4		4	MTHFSD	16	86565766	Silent	SNP	G	TCGA-A3-3317-01A-01D-0966-08	24876384	86565766	3788987	60	3141											
KIF1C	10749	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4926964	4926964	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr17:4926964C>G	ENST00000320785.5	+	23	3187	c.2830C>G	c.(2830-2832)Cag>Gag	p.Q944E		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	944					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CTGGCTCAAGCAGGAGCAGCT	0.711																																					Melanoma(96;1023 1447 10250 19259 33730)											0													22	22	22					17																	4926964		2197	4289	6486	SO:0001583	missense	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2830C>G	17.37:g.4926964C>G	ENSP00000320821:p.Gln944Glu		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309421	0.60414	.	.	ENSG00000129250	ENST00000320785	T	0.74632	-0.86	4.93	4.93	0.64822	.	.	.	.	.	T	0.80513	0.4637	L	0.46157	1.445	0.45076	D	0.998094	P	0.49447	0.924	P	0.59424	0.857	T	0.82123	-0.0613	9	0.72032	D	0.01	.	15.6642	0.77213	0.0:1.0:0.0:0.0	.	944	O43896	KIF1C_HUMAN	E	944	ENSP00000320821:Q944E	ENSP00000320821:Q944E	Q	+	1	0	KIF1C	4867688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.672000	0.54583	2.558000	0.86282	0.655000	0.94253	CAG		0.711	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			G	4926964	C	G	4926964	3	3	43	1	0	0	0	0	1	0	0	0	8287	711	25	4	2912	4	KIF1C	17	4926964	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08		4926964	76268246	61	3142											
PRPSAP1	5635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74324943	74324943	+	Splice_Site	SNP	C	C	G			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr17:74324943C>G	ENST00000446526.3	-	7	1081	c.636G>C	c.(634-636)agG>agC	p.R212S	PRPSAP1_ENST00000324684.4_Splice_Site_p.R109S	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	183					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						AGGACTGGGCCCTAGAAGGAC	0.493																																																0													80	59	66					17																	74324943		2203	4300	6503	SO:0001630	splice_region_variant	5635			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.636-1G>C	17.37:g.74324943C>G			B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383817	0.61845	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.73	2.69	0.31865	.	0.000000	0.85682	D	0.000000	D	0.84915	0.5578	H	0.95611	3.695	0.80722	D	1	B;P	0.43094	0.021;0.799	B;P	0.49561	0.033;0.615	D	0.86263	0.1656	10	0.87932	D	0	.	10.8723	0.46891	0.0:0.7977:0.0:0.2023	.	183;212	Q14558;Q14558-2	KPRA_HUMAN;.	S	212;109;109;109	ENSP00000414624:R212S;ENSP00000314973:R109S;ENSP00000392838:R109S;ENSP00000387494:R109S	ENSP00000314973:R109S	R	-	3	2	PRPSAP1	71836538	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.302000	0.33459	0.447000	0.26695	0.655000	0.94253	AGG		0.493	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766	Missense_Mutation	G	74324943	C	G	74324943	5	3	43	1	0	0	0	0	0	0	1	0	12586	637	22	4	537	4	PRPSAP1	17	74324943	Splice_Site	SNP	C	TCGA-A3-3317-01A-01D-0966-08	69397979	74324943	6870267	62	3143											
CBX8	57332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	77768913	77768913	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr17:77768913G>C	ENST00000269385.4	-	5	808	c.691C>G	c.(691-693)Ctg>Gtg	p.L231V	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	231					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTGTCGTCCAGCTTCCTGCCC	0.662																																																0													29	29	29					17																	77768913		2203	4300	6503	SO:0001583	missense	57332			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.691C>G	17.37:g.77768913G>C	ENSP00000269385:p.Leu231Val		Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	g	5.418	0.262251	0.10239	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T	0.42900	0.96	4.87	0.265	0.15612	.	1.161370	0.06380	N	0.715021	T	0.22399	0.0540	N	0.14661	0.345	0.24552	N	0.994014	B	0.02656	0.0	B	0.04013	0.001	T	0.22521	-1.0214	10	0.29301	T	0.29	-6.0904	2.7275	0.05218	0.0861:0.247:0.2964:0.3705	.	231	Q9HC52	CBX8_HUMAN	V	231;206;221	ENSP00000269385:L231V	ENSP00000269385:L231V	L	-	1	2	CBX8	75383508	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	0.367000	0.20382	0.572000	0.29383	-0.509000	0.04479	CTG		0.662	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		C	77768913	G	C	77768913	3	2	43	1	0	0	0	0	1	0	0	0	2726	971	34	4	457	4	CBX8	17	77768913	Missense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08	3443970	77768913	3426297	63	3144											
FASN	2194	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80041257	80041257	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr17:80041257G>T	ENST00000306749.2	-	32	5604	c.5386C>A	c.(5386-5388)Ctg>Atg	p.L1796M	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1796	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AACGCATCCAGTAGGACCCCG	0.642																																					Colon(59;314 1043 11189 28578 32273)											0													74	73	73					17																	80041257		2202	4298	6500	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5386C>A	17.37:g.80041257G>T	ENSP00000304592:p.Leu1796Met		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735138	0.30774	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.04502	3.61	4.1	0.842	0.18927	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.162426	0.41712	D	0.000823	T	0.16514	0.0397	M	0.83012	2.62	0.51233	D	0.999916	D	0.89917	1.0	D	0.97110	1.0	T	0.00804	-1.1559	10	0.72032	D	0.01	-20.7536	3.8007	0.08757	0.3506:0.0:0.4873:0.1622	.	1796	P49327	FAS_HUMAN	M	1796;761	ENSP00000304592:L1796M	ENSP00000304592:L1796M	L	-	1	2	FASN	77634546	1.000000	0.71417	0.114000	0.21550	0.007000	0.05969	3.094000	0.50227	0.026000	0.15269	0.561000	0.74099	CTG		0.642	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		T	80041257	G	T	80041257	3	4	43	1	0	0	0	0	1	0	0	0	5685	1020	36	4	2197	4	FASN	17	80041257	Missense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08	2272344	80041257	1153953	64	3145											
DSC2	1824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	28651758	28651758	+	Silent	SNP	A	A	G	rs397517395		TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr18:28651758A>G	ENST00000280904.6	-	13	2381	c.1938T>C	c.(1936-1938)taT>taC	p.Y646Y	DSC2_ENST00000251081.6_Silent_p.Y646Y|snoU13_ENST00000459603.1_RNA	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	646	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TAGGTACTACATATGAGCCAA	0.368																																																0													115	99	104					18																	28651758		2203	4300	6503	SO:0001819	synonymous_variant	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1938T>C	18.37:g.28651758A>G				Silent	SNP	ENST00000280904.6	37	CCDS11892.1																																																																																				0.368	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		G	28651758	A	G	28651758	2	3	43	1	0	0	0	0	0	0	0	1	4768	224	8	3		3	DSC2	18	28651758	Silent	SNP	A	TCGA-A3-3317-01A-01D-0966-08		28651758	49425490	65	3146											
MBD1	4152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	47799982	47799982	+	Silent	SNP	A	A	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr18:47799982A>T	ENST00000591416.1	-	12	1829	c.1398T>A	c.(1396-1398)ccT>ccA	p.P466P	MBD1_ENST00000436910.1_Silent_p.P443P|MBD1_ENST00000588937.1_Silent_p.P443P|MBD1_ENST00000398493.1_Silent_p.P410P|MBD1_ENST00000590208.1_Silent_p.P466P|MBD1_ENST00000585672.1_Silent_p.P416P|MBD1_ENST00000587605.1_Silent_p.P410P|MBD1_ENST00000591535.1_Silent_p.P443P|MBD1_ENST00000382948.5_Silent_p.P466P|MBD1_ENST00000457839.2_Silent_p.P491P|MBD1_ENST00000349085.2_Silent_p.P410P|MBD1_ENST00000339998.6_Silent_p.P466P|MBD1_ENST00000353909.3_Silent_p.P417P|MBD1_ENST00000269471.5_Silent_p.P443P|MBD1_ENST00000585595.1_Silent_p.P491P|MBD1_ENST00000269468.5_Silent_p.P466P|MBD1_ENST00000347968.3_Silent_p.P410P|MBD1_ENST00000398488.1_Silent_p.P410P|MBD1_ENST00000398495.2_Silent_p.P435P|MBD1_ENST00000424334.2_Silent_p.P517P			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	466					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GCACCTGCACAGGACTGCTTG	0.632																																																0													41	41	41					18																	47799982		2203	4300	6503	SO:0001819	synonymous_variant	4152			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1398T>A	18.37:g.47799982A>T			A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	CCDS11943.1																																																																																				0.632	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		T	47799982	A	T	47799982	2	4	43	1	0	0	0	0	0	0	0	1	9344	175	7	5		5	MBD1	18	47799982	Silent	SNP	A	TCGA-A3-3317-01A-01D-0966-08	19148224	47799982	30277266	66	3147											
KDM4B	23030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	5137677	5137677	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr19:5137677A>T	ENST00000159111.4	+	17	2649	c.2431A>T	c.(2431-2433)Acc>Tcc	p.T811S	KDM4B_ENST00000536461.1_Missense_Mutation_p.T845S	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	811					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCAGATGACCACCGATAGGAG	0.687																																																0													34	36	35					19																	5137677		2202	4299	6501	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2431A>T	19.37:g.5137677A>T	ENSP00000159111:p.Thr811Ser		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.083096	0.55861	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.13420	2.59;2.59	3.95	3.95	0.45737	.	0.335986	0.30134	N	0.010325	T	0.15998	0.0385	L	0.31371	0.925	0.35502	D	0.799868	D;P	0.54964	0.969;0.775	P;P	0.53313	0.723;0.526	T	0.19778	-1.0295	10	0.23302	T	0.38	-38.0283	11.6966	0.51546	1.0:0.0:0.0:0.0	.	845;811	F5GX28;O94953	.;KDM4B_HUMAN	S	811;845	ENSP00000159111:T811S;ENSP00000440495:T845S	ENSP00000159111:T811S	T	+	1	0	KDM4B	5088677	0.986000	0.35501	0.972000	0.41901	0.872000	0.50106	4.144000	0.58057	1.576000	0.49790	0.459000	0.35465	ACC		0.687	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		T	5137677	A	T	5137677	3	4	43	1	0	0	0	0	1	0	0	0	8131	159	6	5	2489	5	KDM4B	19	5137677	Missense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08		5137677	53991306	67	3148											
TNPO2	30000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12813644	12813644	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr19:12813644T>A	ENST00000592287.1	-	20	2406	c.2298A>T	c.(2296-2298)gaA>gaT	p.E766D	TNPO2_ENST00000450764.2_Missense_Mutation_p.E766D|TNPO2_ENST00000588216.1_Missense_Mutation_p.E766D|TNPO2_ENST00000425528.1_Missense_Mutation_p.E766D|TNPO2_ENST00000356861.5_Missense_Mutation_p.E766D|TNPO2_ENST00000441499.1_Missense_Mutation_p.E766D	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	766					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACCTGTGTTTTCCAGCAGTG	0.592																																																0													216	231	226					19																	12813644		2027	4187	6214	SO:0001583	missense	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2298A>T	19.37:g.12813644T>A	ENSP00000468434:p.Glu766Asp		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607142	0.87157	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.91	0.797	0.18654	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.91459	3.21	0.58432	D	0.999998	D;P	0.65815	0.995;0.763	P;B	0.60236	0.871;0.228	T	0.69826	-0.5040	10	0.87932	D	0	-10.7686	10.0451	0.42182	0.0:0.5782:0.0:0.4218	.	930;766	Q4LE60;O14787	.;TNPO2_HUMAN	D	930;766;766;766;766	ENSP00000407182:E766D;ENSP00000389648:E766D;ENSP00000397379:E766D;ENSP00000349321:E766D	ENSP00000349321:E766D	E	-	3	2	TNPO2	12674644	0.984000	0.35163	0.997000	0.53966	0.998000	0.95712	0.191000	0.17076	-0.192000	0.10432	0.533000	0.62120	GAA		0.592	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		A	12813644	T	A	12813644	3	1	43	1	0	0	0	0	1	0	0	0	16341	1838	64	5	415	5	TNPO2	19	12813644	Missense_Mutation	SNP	T	TCGA-A3-3317-01A-01D-0966-08	7675967	12813644	46315339	68	3149											
SFRS14	10147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19136452	19136452	+	Silent	SNP	G	G	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr19:19136452G>A	ENST00000601879.1	-	3	1002	c.705C>T	c.(703-705)ctC>ctT	p.L235L	SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000600377.1_Silent_p.L249L|SUGP2_ENST00000452918.2_Silent_p.L235L|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000337018.6_Silent_p.L235L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	235					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTTAGCTGTGAGCAGGCCCT	0.517																																																0													109	104	106					19																	19136452		2203	4300	6503	SO:0001819	synonymous_variant	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.705C>T	19.37:g.19136452G>A			C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	CCDS12392.1																																																																																				0.517	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		A	19136452	G	A	19136452	2	1	43	1	0	0	0	0	0	0	0	1	14176	1277	45	2		2	SFRS14	19	19136452	Silent	SNP	G	TCGA-A3-3317-01A-01D-0966-08	6322808	19136452	39992531	69	3150											
CILP2	148113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19653420	19653420	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr19:19653420G>A	ENST00000291495.5	+	5	914	c.829G>A	c.(829-831)Gga>Aga	p.G277R	CILP2_ENST00000586018.1_Missense_Mutation_p.G283R|CILP2_ENST00000588333.2_3'UTR	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	277						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCAGGCCAACGGATCCATCTC	0.597																																																0													52	52	52					19																	19653420		2203	4300	6503	SO:0001583	missense	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.829G>A	19.37:g.19653420G>A	ENSP00000291495:p.Gly277Arg		Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	7.123	0.578383	0.13686	.	.	ENSG00000160161	ENST00000291495	T	0.52983	0.64	5.23	-6.0	0.02206	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.845223	0.10738	N	0.639848	T	0.37785	0.1016	L	0.47716	1.5	0.09310	N	1	B;B	0.19200	0.034;0.034	B;B	0.19391	0.025;0.025	T	0.23833	-1.0177	10	0.20519	T	0.43	-16.4744	16.5466	0.84448	0.215:0.0:0.785:0.0	.	277;277	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	R	277	ENSP00000291495:G277R	ENSP00000291495:G277R	G	+	1	0	CILP2	19514420	0.000000	0.05858	0.191000	0.23289	0.180000	0.23129	-1.275000	0.02817	-1.346000	0.02211	0.555000	0.69702	GGA		0.597	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		A	19653420	G	A	19653420	3	1	43	1	0	0	0	0	1	0	0	0	3432	1117	39	1	847	1	CILP2	19	19653420	Missense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08	516968	19653420	39475563	70	3151											
LRFN3	79414	broad.mit.edu;hgsc.bcm.edu	37	19	36430547	36430547	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr19:36430547G>C	ENST00000588831.1	+	3	1274	c.220G>C	c.(220-222)Gtg>Ctg	p.V74L	LRFN3_ENST00000246529.3_Missense_Mutation_p.V74L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	74					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CATCGCCTCCGTGCGCCGCCG	0.706																																																0													14	15	15					19																	36430547		2156	4217	6373	SO:0001583	missense	79414			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.220G>C	19.37:g.36430547G>C	ENSP00000466989:p.Val74Leu		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	5.112	0.206225	0.09704	.	.	ENSG00000126243	ENST00000246529	T	0.48836	0.8	4.44	3.31	0.37934	.	0.000000	0.33290	N	0.005076	T	0.21103	0.0508	N	0.04387	-0.21	0.23893	N	0.996549	B	0.18461	0.028	B	0.24006	0.05	T	0.11108	-1.0601	10	0.20519	T	0.43	.	5.7351	0.18061	0.107:0.201:0.6919:0.0	.	74	Q9BTN0	LRFN3_HUMAN	L	74	ENSP00000246529:V74L	ENSP00000246529:V74L	V	+	1	0	LRFN3	41122387	0.001000	0.12720	0.919000	0.36401	0.949000	0.60115	-0.098000	0.11024	2.201000	0.70794	0.557000	0.71058	GTG		0.706	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		C	36430547	G	C	36430547	3	2	43	1	0	0	0	0	1	0	0	0	8941	1145	40	4	222	4	LRFN3	19	36430547	Missense_Mutation	SNP	G	TCGA-A3-3317-01A-01D-0966-08	16777127	36430547	22698436	71	3152											
LYPD5	284348	broad.mit.edu	37	19	44303017	44303017	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr19:44303017T>A	ENST00000377950.3	-	3	397	c.317A>T	c.(316-318)gAc>gTc	p.D106V	LYPD5_ENST00000594013.1_Missense_Mutation_p.D63V|LYPD5_ENST00000414615.2_Missense_Mutation_p.D63V	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	106						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				GTTGCATTTGTCAGTTGTGCA	0.687																																																0													33	29	31					19																	44303017		2203	4300	6503	SO:0001583	missense	284348			AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.317A>T	19.37:g.44303017T>A	ENSP00000367185:p.Asp106Val		Q6PEX9|Q96DR2	Missense_Mutation	SNP	ENST00000377950.3	37	CCDS46096.1	.	.	.	.	.	.	.	.	.	.	t	15.10	2.731644	0.48939	.	.	ENSG00000159871	ENST00000377950;ENST00000414615	T;D	0.99264	1.46;-5.65	3.3	2.26	0.28386	.	0.381500	0.19096	U	0.122828	D	0.98033	0.9352	L	0.34521	1.04	0.09310	N	0.999994	D	0.64830	0.994	P	0.56865	0.808	D	0.94690	0.7873	10	0.87932	D	0	-22.7539	5.3118	0.15835	0.0:0.1382:0.0:0.8618	.	106	Q6UWN5	LYPD5_HUMAN	V	106;63	ENSP00000367185:D106V;ENSP00000408433:D63V	ENSP00000367185:D106V	D	-	2	0	LYPD5	48994857	0.264000	0.24093	0.011000	0.14972	0.055000	0.15305	3.503000	0.53340	0.469000	0.27268	0.439000	0.28862	GAC		0.687	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463611.1	NM_182573		A	44303017	T	A	44303017	3	1	43	1	0	0	0	0	1	0	0	0	9115	1667	58	5	450	5	LYPD5	19	44303017	Missense_Mutation	SNP	T	TCGA-A3-3317-01A-01D-0966-08	7872470	44303017	14825966	72	3153											
PPP5C	5536	hgsc.bcm.edu;ucsc.edu	37	19	46888136	46888136	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr19:46888136C>G	ENST00000012443.4	+	7	977	c.874C>G	c.(874-876)Ctg>Gtg	p.L292V	PPP5C_ENST00000391919.1_Missense_Mutation_p.L164V|AC007193.9_ENST00000599645.1_RNA	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	292	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CTTCAAGCTCCTGTACCCAGA	0.507																																																0													116	98	104					19																	46888136		2203	4300	6503	SO:0001583	missense	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.874C>G	19.37:g.46888136C>G	ENSP00000012443:p.Leu292Val		Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949227	0.53186	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	D;D	0.85773	-2.03;-2.03	4.59	3.56	0.40772	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.073752	0.56097	D	0.000034	D	0.87269	0.6135	L	0.58428	1.81	0.80722	D	1	B;P;B	0.50819	0.168;0.939;0.088	B;P;B	0.55785	0.183;0.784;0.255	D	0.86787	0.1983	10	0.62326	D	0.03	-9.2087	10.4644	0.44598	0.0:0.9034:0.0:0.0966	.	150;292;292	B7Z1I1;B2R6R6;P53041	.;.;PPP5_HUMAN	V	292;279;164	ENSP00000012443:L292V;ENSP00000375786:L164V	ENSP00000012443:L292V	L	+	1	2	PPP5C	51579976	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	5.583000	0.67484	0.928000	0.37168	0.491000	0.48974	CTG		0.507	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		G	46888136	C	G	46888136	3	3	43	1	0	0	0	0	1	0	0	0	12411	680	24	4	900	4	PPP5C	19	46888136	Missense_Mutation	SNP	C	TCGA-A3-3317-01A-01D-0966-08	2585119	46888136	12240847	73	3154											
PLAC4	25825	broad.mit.edu	37	21	42551343	42551343	+	Intron	SNP	G	G	C			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr21:42551343G>C	ENST00000330333.6	+	1	775				PLAC4_ENST00000430327.2_RNA|BACE2-IT1_ENST00000433378.1_RNA|BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000536486.1_RNA|BACE2_ENST00000328735.6_Intron|PLAC4_ENST00000414699.1_RNA|PLAC4_ENST00000440221.2_RNA	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				cagggtgagtgagggtgtcag	0.607																																																0													158	137	144					21																	42551343		2196	4273	6469	SO:0001627	intron_variant	191585			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10841G>C	21.37:g.42551343G>C			A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	ENST00000330333.6	37	CCDS13668.1																																																																																				0.607	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			C	42551343	G	C	42551343	1	2	43	0	1	0	0	0	0	0	0	0	12016	1277	45	4		4	PLAC4	21	42551343	Intron	SNP	G	TCGA-A3-3317-01A-01D-0966-08		42551343	5578552	74	3155											
TRAPPC10	7109	broad.mit.edu;ucsc.edu	37	21	45522670	45522670	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chr21:45522670A>T	ENST00000291574.4	+	22	3533	c.3358A>T	c.(3358-3360)Agt>Tgt	p.S1120C		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1120					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGTCGACAACAGTAGCAACTG	0.577																																																0													176	168	170					21																	45522670		2203	4300	6503	SO:0001583	missense	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3358A>T	21.37:g.45522670A>T	ENSP00000291574:p.Ser1120Cys		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184388	0.78677	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.25749	1.78	5.49	5.49	0.81192	.	0.138589	0.64402	D	0.000004	T	0.39937	0.1097	L	0.48642	1.525	0.43408	D	0.995544	D;D	0.71674	0.992;0.998	P;D	0.65323	0.823;0.934	T	0.22661	-1.0210	10	0.72032	D	0.01	.	10.27	0.43477	0.926:0.0:0.074:0.0	.	379;1120	B4DI17;P48553	.;TPC10_HUMAN	C	1120;251	ENSP00000291574:S1120C	ENSP00000291574:S1120C	S	+	1	0	TRAPPC10	44347098	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.848000	0.69458	2.202000	0.70862	0.533000	0.62120	AGT		0.577	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		T	45522670	A	T	45522670	3	4	43	1	0	0	0	0	1	0	0	0	16462	188	7	5	3444	5	TRAPPC10	21	45522670	Missense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08	2971327	45522670	2607225	75	3156											
BMX	660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	15549469	15549469	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3317-01A-01D-0966-08	TCGA-A3-3317-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd12847f-695b-4b97-9a56-a4a1ddc58ec4	02b0790a-61a7-4917-be68-533c397b2e6b	g.chrX:15549469A>G	ENST00000357607.2	+	11	1146	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	BMX_ENST00000342014.6_Missense_Mutation_p.M320V|BMX_ENST00000348343.6_Missense_Mutation_p.M320V			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	320	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGGAGCATTTATGGTTAGAAA	0.343																																																0													153	150	151					X																	15549469		2203	4300	6503	SO:0001583	missense	660			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.958A>G	X.37:g.15549469A>G	ENSP00000350224:p.Met320Val		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.459800	0.26248	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.24723	1.84;1.84;1.84	5.56	5.56	0.83823	SH2 motif (5);	0.076868	0.56097	D	0.000026	T	0.16557	0.0398	N	0.20685	0.6	0.36953	D	0.892985	B	0.21821	0.061	B	0.20767	0.031	T	0.17319	-1.0373	10	0.17369	T	0.5	.	12.4963	0.55929	1.0:0.0:0.0:0.0	.	320	P51813	BMX_HUMAN	V	320	ENSP00000350224:M320V;ENSP00000308774:M320V;ENSP00000340082:M320V	ENSP00000340082:M320V	M	+	1	0	BMX	15459390	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	1.798000	0.38814	1.857000	0.53885	0.486000	0.48141	ATG		0.343	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		G	15549469	A	G	15549469	3	3	43	1	0	0	0	0	1	0	0	0	1473	449	16	3	996	3	BMX	23	15549469	Missense_Mutation	SNP	A	TCGA-A3-3317-01A-01D-0966-08		15549469	139721091	76	3157											
PER3	8863	broad.mit.edu	37	1	7887541	7887541	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:7887541A>T	ENST00000361923.2	+	17	2703	c.2528A>T	c.(2527-2529)tAc>tTc	p.Y843F	PER3_ENST00000377532.3_Missense_Mutation_p.Y851F|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	843	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTTCCTTACTTGGATACT	0.577																																																0													168	165	166					1																	7887541		2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2528A>T	1.37:g.7887541A>T	ENSP00000355031:p.Tyr843Phe		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	A	9.834	1.189329	0.21954	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10192	2.9;2.9	4.2	-1.02	0.10135	.	1.682360	0.02989	N	0.146660	T	0.12518	0.0304	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.40376	0.534;0.593;0.715;0.534	B;B;B;B	0.43575	0.202;0.243;0.424;0.202	T	0.30119	-0.9989	10	0.11794	T	0.64	.	5.8931	0.18925	0.5521:0.1326:0.3154:0.0	.	843;851;851;843	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	F	851;843;54	ENSP00000366755:Y851F;ENSP00000355031:Y843F	ENSP00000355031:Y843F	Y	+	2	0	PER3	7810128	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	0.209000	0.17435	-0.404000	0.07610	-0.421000	0.06004	TAC		0.577	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		T	7887541	A	T	7887541	3	4	44	1	0	0	0	0	1	0	0	0	11733	391	14	5	2594	5	PER3	1	7887541	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08		7887541	241363080	1	3158											
ARHGEF10L	55160	broad.mit.edu	37	1	17928647	17928647	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:17928647G>T	ENST00000361221.3	+	5	442	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D95Y	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	95						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GAGCAATGGGGATGCAGCGGA	0.682																																																0													23	26	25					1																	17928647		2192	4291	6483	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.283G>T	1.37:g.17928647G>T	ENSP00000355060:p.Asp95Tyr		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884838	0.33255	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.62941	0.18;0.14;-0.01;0.14	4.91	3.97	0.46021	.	0.434509	0.21850	N	0.068185	T	0.48021	0.1477	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.33212	0.402;0.402;0.156;0.097	B;B;B;B	0.32805	0.153;0.153;0.153;0.073	T	0.50617	-0.8807	10	0.66056	D	0.02	-2.0075	12.0843	0.53688	0.0:0.174:0.826:0.0	.	95;95;95;95	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	Y	95	ENSP00000355060:D95Y;ENSP00000399401:D95Y;ENSP00000394621:D95Y;ENSP00000364564:D95Y	ENSP00000355060:D95Y	D	+	1	0	ARHGEF10L	17801234	1.000000	0.71417	0.947000	0.38551	0.436000	0.31835	3.829000	0.55760	1.005000	0.39183	0.455000	0.32223	GAT		0.682	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		T	17928647	G	T	17928647	3	4	44	1	0	0	0	0	1	0	0	0	895	1174	41	4	297	4	ARHGEF10L	1	17928647	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	10041106	17928647	231321974	2	3159											
HMGN2	3151	broad.mit.edu	37	1	26801118	26801118	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:26801118G>A	ENST00000361427.5	+	5	291	c.197G>A	c.(196-198)gGg>gAg	p.G66E	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	66						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GGCAAGGAGGGGAATAACCCT	0.413																																																0													32	35	34					1																	26801118		2195	4296	6491	SO:0001583	missense	3151			BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"High-mobility group / Canonical"	4986	protein-coding gene	gene with protein product		163910	"high-mobility group (nonhistone chromosomal) protein 17", "high-mobility group nucleosomal binding domain 2"	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.197G>A	1.37:g.26801118G>A	ENSP00000355228:p.Gly66Glu		Q0VGD5|Q6FGI5|Q96C64	Missense_Mutation	SNP	ENST00000361427.5	37	CCDS283.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191839	0.58017	.	.	ENSG00000198830	ENST00000361427	.	.	.	5.65	4.72	0.59763	.	0.591244	0.13227	U	0.403970	T	0.59459	0.2195	.	.	.	0.31110	N	0.710101	D	0.58620	0.983	P	0.52646	0.705	T	0.65030	-0.6267	8	0.66056	D	0.02	.	15.667	0.77238	0.0:0.1421:0.8579:0.0	.	66	P05204	HMGN2_HUMAN	E	66	.	ENSP00000355228:G66E	G	+	2	0	HMGN2	26673705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.106000	0.64597	1.485000	0.48380	0.655000	0.94253	GGG		0.413	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009901.1	NM_005517		A	26801118	G	A	26801118	3	1	44	1	0	0	0	0	1	0	0	0	7237	1232	43	2	215	2	HMGN2	1	26801118	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	8872471	26801118	222449503	3	3160											
WDTC1	23038	broad.mit.edu	37	1	27609919	27609919	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:27609919C>T	ENST00000319394.3	+	5	805	c.270C>T	c.(268-270)acC>acT	p.T90T	WDTC1_ENST00000361771.3_Silent_p.T90T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	90					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CGGGACACACCGCAAATATCT	0.562																																																0													88	73	78					1																	27609919		2203	4300	6503	SO:0001819	synonymous_variant	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.270C>T	1.37:g.27609919C>T			D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37																																																																																					0.562	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		T	27609919	C	T	27609919	2	4	44	1	0	0	0	0	0	0	0	1	17347	639	23	1		1	WDTC1	1	27609919	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08	808801	27609919	221640702	4	3161											
MAP7D1	55700	broad.mit.edu	37	1	36636625	36636626	+	Frame_Shift_Ins	INS	-	-	C	rs200289388		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:36636625_36636626insC	ENST00000373151.2	+	2	316_317	c.100_101insC	c.(100-102)tccfs	p.S34fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.S34fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.S34fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGTGACCCTTCCCCCCCACCA	0.594																																																0																																										SO:0001589	frameshift_variant	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.107dupC	1.37:g.36636632_36636632dupC	ENSP00000362244:p.Ser34fs		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	CCDS30673.1																																																																																				0.594	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		C	36636626	-	C	36636625	7	5	44	1	0	1	1	0	0	0	0	0	9269	1783	62	0	106	0	MAP7D1	1	36636625	Frame_Shift_Ins	INS	-	TCGA-A3-3322-01A-01W-0886-08	9026706	36636625	212613996	5	3162											
AGBL4	84871	broad.mit.edu	37	1	49119017	49119017	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:49119017G>A	ENST00000371839.1	-	8	947	c.831C>T	c.(829-831)ggC>ggT	p.G277G	AGBL4_ENST00000334103.7_Silent_p.G10G|AGBL4_ENST00000371838.1_Silent_p.G277G	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	277					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		ACCTGTAATTGCCCAGGTAGA	0.443																																																0													47	44	45					1																	49119017		1878	4105	5983	SO:0001819	synonymous_variant	84871			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.831C>T	1.37:g.49119017G>A			B3KT26|B4DG37	Silent	SNP	ENST00000371839.1	37	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.122955	0.20959	.	.	ENSG00000186094	ENST00000416121;ENST00000432500	.	.	.	5.84	2.59	0.31030	.	.	.	.	.	T	0.59004	0.2162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54510	-0.8283	4	.	.	.	-25.4636	9.9546	0.41660	0.0:0.1022:0.5163:0.3814	.	.	.	.	V	123;66	.	.	A	-	2	0	AGBL4	48891604	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.423000	0.21313	0.787000	0.33731	-0.176000	0.13171	GCA		0.443	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		A	49119017	G	A	49119017	2	1	44	1	0	0	0	0	0	0	0	1	377	1306	46	2		2	AGBL4	1	49119017	Silent	SNP	G	TCGA-A3-3322-01A-01W-0886-08	12482392	49119017	200131604	6	3163											
ECHDC2	55268	broad.mit.edu	37	1	53363134	53363134	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:53363134G>A	ENST00000371522.4	-	9	869	c.776C>T	c.(775-777)gCc>gTc	p.A259V	ECHDC2_ENST00000358358.5_Missense_Mutation_p.A228V|ECHDC2_ENST00000536120.1_Missense_Mutation_p.A213V	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	259					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCCTTCAATGGCCATCCCAGA	0.532																																																0													257	199	219					1																	53363134		2203	4300	6503	SO:0001583	missense	55268			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.776C>T	1.37:g.53363134G>A	ENSP00000360577:p.Ala259Val		D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360238	0.61403	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.04	5.49	3.64	0.41730	Crontonase, C-terminal (1);	0.050229	0.85682	N	0.000000	T	0.64227	0.2579	L	0.61036	1.89	0.80722	D	1	B;B	0.28208	0.177;0.203	B;B	0.33620	0.08;0.167	T	0.61352	-0.7080	10	0.39692	T	0.17	.	11.2643	0.49101	0.1497:0.0:0.8503:0.0	.	259;228	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	V	259;228;213;211	ENSP00000360577:A259V;ENSP00000351125:A228V;ENSP00000439264:A213V;ENSP00000441962:A211V	ENSP00000351125:A228V	A	-	2	0	ECHDC2	53135722	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.457000	0.60088	0.895000	0.36342	-0.137000	0.14449	GCC		0.532	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		A	53363134	G	A	53363134	3	1	44	1	0	0	0	0	1	0	0	0	4896	1203	42	2	110	2	ECHDC2	1	53363134	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	4244117	53363134	195887487	7	3164											
JAK1	3716	broad.mit.edu	37	1	65310505	65310505	+	Missense_Mutation	SNP	T	T	C	rs530773982		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:65310505T>C	ENST00000342505.4	-	16	2431	c.2183A>G	c.(2182-2184)gAc>gGc	p.D728G	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	728	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACACTCACTGTCGATGCCCTC	0.542			Mis		ALL								T|||	1	0.000199681	0.0	0.0	5008	,	,		19020	0.001		0.0	False		,,,				2504	0.0						Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													96	111	106					1																	65310505		2107	4222	6329	SO:0001583	missense	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2183A>G	1.37:g.65310505T>C	ENSP00000343204:p.Asp728Gly		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846161	0.32606	.	.	ENSG00000162434	ENST00000342505	T	0.77489	-1.1	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.57844	0.2081	L	0.39692	1.235	0.48830	D	0.999718	B	0.21309	0.054	B	0.20955	0.032	T	0.57602	-0.7783	9	0.28530	T	0.3	-9.7751	14.8844	0.70557	0.0:0.0:0.0:1.0	.	728	P23458	JAK1_HUMAN	G	728	ENSP00000343204:D728G	ENSP00000343204:D728G	D	-	2	0	JAK1	65083093	0.996000	0.38824	0.855000	0.33649	0.645000	0.38454	2.676000	0.46883	2.112000	0.64535	0.460000	0.39030	GAC		0.542	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		C	65310505	T	C	65310505	3	2	44	1	0	0	0	0	1	0	0	0	7939	1667	58	3	1321	3	JAK1	1	65310505	Missense_Mutation	SNP	T	TCGA-A3-3322-01A-01W-0886-08	11947371	65310505	183940116	8	3165											
SGIP1	84251	broad.mit.edu	37	1	67101650	67101650	+	Silent	SNP	C	C	T	rs534433911		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:67101650C>T	ENST00000371037.4	+	4	200	c.123C>T	c.(121-123)ccC>ccT	p.P41P	SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	41					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACGAACCACCCTACAATAGCA	0.373																																																0													99	100	99					1																	67101650		2203	4300	6503	SO:0001819	synonymous_variant	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.123C>T	1.37:g.67101650C>T			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	CCDS30744.1																																																																																				0.373	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		T	67101650	C	T	67101650	2	4	44	1	0	0	0	0	0	0	0	1	14212	668	24	2		2	SGIP1	1	67101650	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08	1791145	67101650	182148971	9	3166											
IL12RB2	3595	broad.mit.edu	37	1	67861487	67861487	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:67861487G>C	ENST00000262345.1	+	16	2944	c.2304G>C	c.(2302-2304)aaG>aaC	p.K768N	IL12RB2_ENST00000544434.1_Missense_Mutation_p.K682N|IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	768					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ATCTGTACAAGGTGCTGGAGA	0.582																																																0													98	95	96					1																	67861487		2203	4300	6503	SO:0001583	missense	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2304G>C	1.37:g.67861487G>C	ENSP00000262345:p.Lys768Asn		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458732	0.43634	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.52295	0.67;1.42	5.39	4.48	0.54585	.	0.482935	0.23461	N	0.047927	T	0.48241	0.1489	M	0.65975	2.015	0.80722	D	1	D;D	0.69078	0.988;0.997	P;P	0.60789	0.844;0.879	T	0.47573	-0.9107	10	0.31617	T	0.26	-15.141	10.3657	0.44021	0.0911:0.0:0.9089:0.0	.	682;768	F5H7L6;Q99665	.;I12R2_HUMAN	N	768;682	ENSP00000262345:K768N;ENSP00000442443:K682N	ENSP00000262345:K768N	K	+	3	2	IL12RB2	67634075	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.940000	0.49003	1.421000	0.47157	0.561000	0.74099	AAG		0.582	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		C	67861487	G	C	67861487	3	2	44	1	0	0	0	0	1	0	0	0	7629	991	35	4	2362	4	IL12RB2	1	67861487	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	759837	67861487	181389134	10	3167											
NUP210L	91181	broad.mit.edu	37	1	154027277	154027277	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:154027277T>G	ENST00000368559.3	-	24	3343	c.3272A>C	c.(3271-3273)aAa>aCa	p.K1091T	NUP210L_ENST00000368553.1_Missense_Mutation_p.K24T|NUP210L_ENST00000271854.3_Missense_Mutation_p.K1091T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1091					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.K1091R(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGTGTCATTTTCTCTGGAAG	0.368																																																1	Substitution - Missense(1)	lung(1)											108	102	104					1																	154027277		1861	4107	5968	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3272A>C	1.37:g.154027277T>G	ENSP00000357547:p.Lys1091Thr		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820528	0.71028	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.42900	0.96;0.96;0.96	4.83	4.83	0.62350	Bacterial Ig-like, group 2 (2);Invasin/intimin cell-adhesion (1);	0.000000	0.64402	D	0.000005	T	0.42988	0.1227	L	0.59912	1.85	0.35488	D	0.798749	D;D	0.67145	0.991;0.996	P;P	0.60012	0.622;0.867	T	0.38457	-0.9660	10	0.30854	T	0.27	-21.7368	12.7933	0.57547	0.0:0.0:0.0:1.0	.	1091;1091	E7EP56;Q5VU65	.;P210L_HUMAN	T	1091;24;1091	ENSP00000357547:K1091T;ENSP00000357541:K24T;ENSP00000271854:K1091T	ENSP00000271854:K1091T	K	-	2	0	NUP210L	152293901	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.813000	0.62620	2.035000	0.60131	0.528000	0.53228	AAA		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		G	154027277	T	G	154027277	3	3	44	1	0	0	0	0	1	0	0	0	10763	1841	64	5	2462	5	NUP210L	1	154027277	Missense_Mutation	SNP	T	TCGA-A3-3322-01A-01W-0886-08	86165790	154027277	95223344	11	3168	38	2									
NUP210L	91181	broad.mit.edu	37	1	154027278	154027278	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:154027278T>A	ENST00000368559.3	-	24	3342	c.3271A>T	c.(3271-3273)Aaa>Taa	p.K1091*	NUP210L_ENST00000368553.1_Nonsense_Mutation_p.K24*|NUP210L_ENST00000271854.3_Nonsense_Mutation_p.K1091*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1091					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTGTCATTTTCTCTGGAAGA	0.368																																																0													107	102	104					1																	154027278		1861	4107	5968	SO:0001587	stop_gained	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3271A>T	1.37:g.154027278T>A	ENSP00000357547:p.Lys1091*		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.897836	0.91962	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	.	.	.	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7368	12.7933	0.57547	0.0:0.0:0.0:1.0	.	.	.	.	X	1091;24;1091	.	ENSP00000271854:K1091X	K	-	1	0	NUP210L	152293902	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.873000	0.63057	2.035000	0.60131	0.528000	0.53228	AAA		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		A	154027278	T	A	154027278	4	1	44	1	0	0	0	0	0	1	0	0	10763	1792	62	5	2463	5	NUP210L	1	154027278	Nonsense_Mutation	SNP	T	TCGA-A3-3322-01A-01W-0886-08	1	154027278	95223343	12	3169	38	2									
F5	2153	broad.mit.edu	37	1	169499025	169499025	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:169499025G>A	ENST00000367797.3	-	16	5441	c.5240C>T	c.(5239-5241)cCc>cTc	p.P1747L	F5_ENST00000367796.3_Missense_Mutation_p.P1752L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1747	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GATTAGGAGGGGACCTATCAA	0.373																																																0													134	131	132					1																	169499025		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5240C>T	1.37:g.169499025G>A	ENSP00000356771:p.Pro1747Leu		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783401	0.90282	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99311	-5.73;-5.73	5.5	5.5	0.81552	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	M	0.88512	2.96	0.43435	D	0.995608	D	0.89917	1.0	D	0.97110	1.0	D	0.98576	1.0648	9	0.87932	D	0	-20.2651	19.3971	0.94611	0.0:0.0:1.0:0.0	.	1747	P12259	FA5_HUMAN	L	1747;1752	ENSP00000356771:P1747L;ENSP00000356770:P1752L	ENSP00000356770:P1752L	P	-	2	0	F5	167765649	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	9.197000	0.94985	2.584000	0.87258	0.557000	0.71058	CCC		0.373	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169499025	G	A	169499025	3	1	44	1	0	0	0	0	1	0	0	0	5350	1232	43	2	1474	2	F5	1	169499025	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	15471747	169499025	79751596	13	3170											
LAD1	3898	broad.mit.edu	37	1	201354880	201354880	+	Silent	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:201354880T>G	ENST00000391967.2	-	4	1381	c.1080A>C	c.(1078-1080)cgA>cgC	p.R360R	LAD1_ENST00000367313.3_Silent_p.R374R|LAD1_ENST00000488842.1_5'Flank	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	360						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TGCTGTAGGTTCGCTGTGTGG	0.597											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													250	209	223					1																	201354880		2203	4300	6503	SO:0001819	synonymous_variant	3898			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1080A>C	1.37:g.201354880T>G		2121	O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	CCDS1410.1																																																																																				0.597	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		G	201354880	T	G	201354880	2	3	44	1	0	0	0	0	0	0	0	1	8601	1770	62	5		5	LAD1	1	201354880	Silent	SNP	T	TCGA-A3-3322-01A-01W-0886-08	31855855	201354880	47895741	14	3171	39	2									
LAD1	3898	broad.mit.edu	37	1	201354881	201354881	+	Missense_Mutation	SNP	C	C	A	rs143101113		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:201354881C>A	ENST00000391967.2	-	4	1380	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	LAD1_ENST00000367313.3_Missense_Mutation_p.R374L|LAD1_ENST00000488842.1_5'Flank	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	360						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGG	0.597											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													248	208	221					1																	201354881		2203	4300	6503	SO:0001583	missense	3898			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1079G>T	1.37:g.201354881C>A	ENSP00000375829:p.Arg360Leu	2121	O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	9.158	1.017914	0.19355	.	.	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	T;T;T	0.41065	1.01;2.79;2.79	5.46	1.86	0.25419	.	2.236220	0.01801	N	0.032900	T	0.24275	0.0588	N	0.08118	0	0.25256	N	0.989636	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.15065	-1.0450	10	0.27082	T	0.32	-1.9959	4.989	0.14205	0.2853:0.5566:0.1581:0.0	.	374;360	E9PDI4;O00515	.;LAD1_HUMAN	L	11;360;374	ENSP00000422687:R11L;ENSP00000375829:R360L;ENSP00000356282:R374L	ENSP00000356282:R374L	R	-	2	0	LAD1	199621504	0.050000	0.20438	0.696000	0.30242	0.785000	0.44390	0.120000	0.15647	0.477000	0.27464	0.591000	0.81541	CGA		0.597	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		A	201354881	C	A	201354881	3	1	44	1	0	0	0	0	1	0	0	0	8601	884	31	4	502	4	LAD1	1	201354881	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	1	201354881	47895740	15	3172	39	2									
LYST	1130	broad.mit.edu	37	1	235922372	235922372	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:235922372G>A	ENST00000389794.3	-	23	6955	c.6781C>T	c.(6781-6783)Cgt>Tgt	p.R2261C	LYST_ENST00000389793.2_Missense_Mutation_p.R2261C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2261					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGGCCAACGGCCAACAGCT	0.473																																																0													73	69	71					1																	235922372		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6781C>T	1.37:g.235922372G>A	ENSP00000374444:p.Arg2261Cys		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621863	0.66787	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.67865	-0.29;-0.29	4.93	2.99	0.34606	.	0.597834	0.18240	N	0.147275	T	0.73674	0.3617	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.71632	-0.4534	10	0.87932	D	0	.	5.2737	0.15638	0.0775:0.1389:0.6304:0.1532	.	2261	Q99698	LYST_HUMAN	C	2261	ENSP00000374444:R2261C;ENSP00000374443:R2261C	ENSP00000374443:R2261C	R	-	1	0	LYST	233988995	0.988000	0.35896	0.056000	0.19401	0.908000	0.53690	3.932000	0.56537	0.565000	0.29255	0.558000	0.71614	CGT		0.473	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235922372	G	A	235922372	3	1	44	1	0	0	0	0	1	0	0	0	9130	1116	39	1	4748	1	LYST	1	235922372	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	34567491	235922372	13328249	16	3173											
COLEC11	78989	broad.mit.edu	37	2	3691555	3691555	+	Silent	SNP	C	C	T	rs199962584		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:3691555C>T	ENST00000349077.4	+	7	766	c.663C>T	c.(661-663)ccC>ccT	p.P221P	COLEC11_ENST00000236693.7_Silent_p.P218P|COLEC11_ENST00000404205.1_Silent_p.P147P|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402794.1_Silent_p.P171P|COLEC11_ENST00000418971.2_Silent_p.P235P|COLEC11_ENST00000403096.3_Silent_p.P195P|COLEC11_ENST00000402922.1_Silent_p.P171P|COLEC11_ENST00000382062.2_Silent_p.P197P	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	221	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ACCACTCCCCCATGCGGACCT	0.642																																																0													65	76	72					2																	3691555		2203	4300	6503	SO:0001819	synonymous_variant	78989			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"Collectins"	17213	protein-coding gene	gene with protein product	"Collectin K1"	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.663C>T	2.37:g.3691555C>T			A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	CCDS1649.1																																																																																				0.642	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		T	3691555	C	T	3691555	2	4	44	1	0	0	0	0	0	0	0	1	3713	581	21	2		2	COLEC11	2	3691555	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08		3691555	239507818	17	3174											
ATAD2B	54454	broad.mit.edu	37	2	24046247	24046247	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:24046247G>A	ENST00000238789.5	-	16	2355	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	671						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCATGCCCTGAAGACATCAC	0.453																																																0													80	79	79					2																	24046247		2013	4182	6195	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2012C>T	2.37:g.24046247G>A	ENSP00000238789:p.Ser671Leu		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258795	0.80246	.	.	ENSG00000119778	ENST00000238789	D	0.91464	-2.85	5.07	5.07	0.68467	.	.	.	.	.	D	0.85084	0.5616	N	0.20530	0.585	0.45718	D	0.998623	B	0.19331	0.035	B	0.20384	0.029	T	0.79957	-0.1584	9	0.36615	T	0.2	.	18.8411	0.92184	0.0:0.0:1.0:0.0	.	671	Q9ULI0	ATD2B_HUMAN	L	671	ENSP00000238789:S671L	ENSP00000238789:S671L	S	-	2	0	ATAD2B	23899751	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.828000	0.86729	2.539000	0.85634	0.561000	0.74099	TCA		0.453	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		A	24046247	G	A	24046247	3	1	44	1	0	0	0	0	1	0	0	0	1072	1294	45	2	2416	2	ATAD2B	2	24046247	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	20354692	24046247	219153126	18	3175											
NRBP1	29959	broad.mit.edu	37	2	27663340	27663340	+	Silent	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:27663340C>A	ENST00000233557.3	+	13	1939	c.1107C>A	c.(1105-1107)atC>atA	p.I369I	NRBP1_ENST00000379852.3_Silent_p.I369I|NRBP1_ENST00000379863.3_Silent_p.I377I|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	369					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGGCTGAAATCCCTGCAGGAC	0.493																																																0													101	98	99					2																	27663340		2203	4300	6503	SO:0001819	synonymous_variant	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1107C>A	2.37:g.27663340C>A			B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	CCDS1753.1																																																																																				0.493	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		A	27663340	C	A	27663340	2	1	44	1	0	0	0	0	0	0	0	1	10644	845	30	4		4	NRBP1	2	27663340	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08	3617093	27663340	215536033	19	3176											
MTA3	57504	broad.mit.edu	37	2	42909669	42909669	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:42909669C>G	ENST00000405094.1	+	9	831	c.831C>G	c.(829-831)agC>agG	p.S277R	MTA3_ENST00000406911.1_Missense_Mutation_p.S277R|MTA3_ENST00000407270.3_Missense_Mutation_p.S277R|MTA3_ENST00000405592.1_Missense_Mutation_p.S221R|MTA3_ENST00000406652.1_Missense_Mutation_p.S221R			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	277	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CTGAAGCTAGCTTATTTGAAG	0.388																																																0													76	70	72					2																	42909669		1876	4110	5986	SO:0001583	missense	57504			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.831C>G	2.37:g.42909669C>G	ENSP00000385823:p.Ser277Arg		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37		.	.	.	.	.	.	.	.	.	.	C	12.67	2.006513	0.35415	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.66	0.139	0.14798	.	0.357629	0.35970	N	0.002873	T	0.15305	0.0369	N	0.02842	-0.48	0.32351	N	0.558449	B;B;B	0.30793	0.295;0.027;0.161	B;B;B	0.30943	0.045;0.026;0.122	T	0.16600	-1.0397	10	0.72032	D	0.01	-15.6184	10.4673	0.44616	0.0:0.4879:0.0:0.5121	.	277;277;221	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	R	221;221;277;277;277;277	ENSP00000383973:S221R;ENSP00000384249:S221R;ENSP00000385045:S277R;ENSP00000385241:S277R;ENSP00000385823:S277R	ENSP00000282366:S277R	S	+	3	2	MTA3	42763173	0.998000	0.40836	0.994000	0.49952	0.994000	0.84299	1.355000	0.34068	-0.003000	0.14444	-0.218000	0.12543	AGC		0.388	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		G	42909669	C	G	42909669	3	3	44	1	0	0	0	0	1	0	0	0	9912	796	28	4	865	4	MTA3	2	42909669	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	15246329	42909669	200289704	20	3177											
MSH6	2956	broad.mit.edu	37	2	48032817	48032817	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:48032817C>A	ENST00000234420.5	+	7	3769	c.3617C>A	c.(3616-3618)gCa>gAa	p.A1206E	MSH6_ENST00000538136.1_Missense_Mutation_p.A904E|MSH6_ENST00000540021.1_Missense_Mutation_p.A1076E|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1206					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)			CATGCAACAGCACATTCTCTG	0.294			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													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)											93	96	95					2																	48032817		2203	4300	6503	SO:0001583	missense	2956	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.3617C>A	2.37:g.48032817C>A	ENSP00000234420:p.Ala1206Glu		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	6.048	0.377163	0.11466	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.84516	-1.86;-1.86;-1.86	4.81	3.86	0.44501	DNA mismatch repair protein MutS, C-terminal (2);	0.265617	0.42548	D	0.000682	T	0.62454	0.2429	N	0.03177	-0.4	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.60332	-0.7284	10	0.05436	T	0.98	-12.0813	10.4484	0.44507	0.3885:0.6115:0.0:0.0	.	1076;1206	B4DF41;P52701	.;MSH6_HUMAN	E	1206;172;1076;904	ENSP00000234420:A1206E;ENSP00000446475:A1076E;ENSP00000438580:A904E	ENSP00000234420:A1206E	A	+	2	0	MSH6	47886321	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.539000	0.45718	2.506000	0.84524	0.462000	0.41574	GCA		0.294	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		A	48032817	C	A	48032817	3	1	44	1	0	0	0	0	1	0	0	0	9876	710	25	4	3643	4	MSH6	2	48032817	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	5123148	48032817	195166556	21	3178											
MPHOSPH10	10199	broad.mit.edu	37	2	71368393	71368393	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:71368393C>G	ENST00000244230.2	+	7	1692	c.1340C>G	c.(1339-1341)cCt>cGt	p.P447R		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	447					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAAGAAAAACCTAAAGAGGAT	0.338																																																0													145	156	152					2																	71368393		2203	4300	6503	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1340C>G	2.37:g.71368393C>G	ENSP00000244230:p.Pro447Arg		A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415852	0.83449	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.10573	2.86;2.86	5.52	5.52	0.82312	.	0.106900	0.64402	D	0.000004	T	0.40839	0.1133	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38520	-0.9657	10	0.20046	T	0.44	.	17.3088	0.87202	0.0:1.0:0.0:0.0	.	447	O00566	MPP10_HUMAN	R	447;307	ENSP00000244230:P447R;ENSP00000393034:P307R	ENSP00000244230:P447R	P	+	2	0	MPHOSPH10	71221901	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.021000	0.76425	2.769000	0.95229	0.491000	0.48974	CCT		0.338	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		G	71368393	C	G	71368393	3	3	44	1	0	0	0	0	1	0	0	0	9727	681	24	4	1366	4	MPHOSPH10	2	71368393	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	23335576	71368393	171830980	22	3179											
RANBP2	5903	broad.mit.edu	37	2	109367746	109367746	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:109367746C>A	ENST00000283195.6	+	10	1426	c.1300C>A	c.(1300-1302)Ctt>Att	p.L434I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	434					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAATGGTAGTCTTCAGCACCT	0.383																																																0													68	83	78					2																	109367746		1462	2663	4125	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1300C>A	2.37:g.109367746C>A	ENSP00000283195:p.Leu434Ile		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290726	0.59976	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.90732	-2.72	5.08	5.08	0.68730	.	.	.	.	.	D	0.94951	0.8367	M	0.66939	2.045	0.29239	N	0.872745	D	0.76494	0.999	D	0.78314	0.991	D	0.91255	0.5032	9	0.87932	D	0	-20.5611	18.8314	0.92141	0.0:1.0:0.0:0.0	.	434	P49792	RBP2_HUMAN	I	434	ENSP00000283195:L434I	ENSP00000283195:L434I	L	+	1	0	RANBP2	108734178	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.189000	0.50965	2.521000	0.84997	0.650000	0.86243	CTT		0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		A	109367746	C	A	109367746	3	1	44	1	0	0	0	0	1	0	0	0	13034	913	32	4	1338	4	RANBP2	2	109367746	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	37999353	109367746	133831627	23	3180											
COBLL1	22837	broad.mit.edu	37	2	165551206	165551206	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:165551206A>G	ENST00000392717.2	-	13	2928	c.2924T>C	c.(2923-2925)cTg>cCg	p.L975P	COBLL1_ENST00000342193.4_Missense_Mutation_p.L937P|COBLL1_ENST00000375458.2_Missense_Mutation_p.L899P|COBLL1_ENST00000194871.6_Missense_Mutation_p.L1004P|COBLL1_ENST00000409184.3_Missense_Mutation_p.L937P			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	975						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						TTTATTTGTCAGTTCTTTTGG	0.463																																																0													50	52	51					2																	165551206		2203	4300	6503	SO:0001583	missense	22837			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.2924T>C	2.37:g.165551206A>G	ENSP00000376478:p.Leu975Pro		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	A	2.427	-0.331755	0.05314	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.61	0.615	0.17608	.	0.824234	0.10661	N	0.648756	T	0.16811	0.0404	N	0.10809	0.05	0.22142	N	0.999331	B;B;B	0.16166	0.007;0.016;0.013	B;B;B	0.15870	0.006;0.009;0.014	T	0.24012	-1.0172	9	0.30078	T	0.28	-0.2854	4.4061	0.11409	0.5501:0.0:0.3098:0.1401	.	975;1004;937	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	P	899;937;937;975;1004	.	ENSP00000194871:L1004P	L	-	2	0	COBLL1	165259452	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.119000	0.10676	-0.118000	0.11851	0.533000	0.62120	CTG		0.463	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		G	165551206	A	G	165551206	3	3	44	1	0	0	0	0	1	0	0	0	3656	188	7	3	702	3	COBLL1	2	165551206	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08	56183460	165551206	77648167	24	3181											
SLC40A1	30061	broad.mit.edu	37	2	190439950	190439950	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:190439950C>T	ENST00000261024.2	-	3	634	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	70					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGAACAGACCCTGCCACCACC	0.488																																																0													176	176	176					2																	190439950		2203	4300	6503	SO:0001583	missense	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.208G>A	2.37:g.190439950C>T	ENSP00000261024:p.Gly70Arg		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931285	0.92389	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;T	0.81247	-1.44;-1.47	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89494	0.6731	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89393	0.3690	10	0.59425	D	0.04	-19.5648	19.3116	0.94189	0.0:1.0:0.0:0.0	.	70;70	A8K7Y1;Q9NP59	.;S40A1_HUMAN	R	70	ENSP00000261024:G70R;ENSP00000390005:G70R	ENSP00000261024:G70R	G	-	1	0	SLC40A1	190148195	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	5.762000	0.68809	2.808000	0.96608	0.650000	0.86243	GGG		0.488	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			T	190439950	C	T	190439950	3	4	44	1	0	0	0	0	1	0	0	0	14634	681	24	2	1531	2	SLC40A1	2	190439950	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	24888744	190439950	52759423	25	3182											
RAPH1	65059	broad.mit.edu	37	2	204356027	204356027	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:204356027T>G	ENST00000319170.5	-	3	435	c.136A>C	c.(136-138)Aag>Cag	p.K46Q	RAPH1_ENST00000453034.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000419464.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000418114.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000374493.3_Missense_Mutation_p.K46Q|RAPH1_ENST00000374489.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000374488.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000457812.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000308091.4_Missense_Mutation_p.K46Q|RAPH1_ENST00000423104.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000439222.1_Missense_Mutation_p.K46Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	46					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATGGGCTTGTCAGAATCC	0.318																																																0													105	106	105					2																	204356027		2203	4300	6503	SO:0001583	missense	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.136A>C	2.37:g.204356027T>G	ENSP00000316543:p.Lys46Gln		Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084160	0.36758	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201;ENST00000428637;ENST00000420371	T;T;T;T;T;T;T;T;T;T;T	0.47528	0.87;0.87;0.84;0.85;0.85;0.84;0.85;0.87;0.85;0.85;0.87	5.69	5.69	0.88448	.	0.115312	0.39210	N	0.001430	T	0.47097	0.1427	L	0.44542	1.39	0.39798	D	0.972534	P;P;D	0.56521	0.9;0.608;0.976	B;B;P	0.47015	0.39;0.205;0.534	T	0.44298	-0.9337	10	0.31617	T	0.26	-13.4892	15.9414	0.79756	0.0:0.0:0.0:1.0	.	46;46;46	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	Q	46	ENSP00000392854:K46Q;ENSP00000316543:K46Q;ENSP00000363617:K46Q;ENSP00000363613:K46Q;ENSP00000363612:K46Q;ENSP00000311293:K46Q;ENSP00000411138:K46Q;ENSP00000390578:K46Q;ENSP00000397751:K46Q;ENSP00000406662:K46Q;ENSP00000396711:K46Q	ENSP00000311293:K46Q	K	-	1	0	RAPH1	204064272	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	5.585000	0.67497	2.171000	0.68590	0.528000	0.53228	AAG		0.318	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		G	204356027	T	G	204356027	3	3	44	1	0	0	0	0	1	0	0	0	13056	1821	63	5	3835	5	RAPH1	2	204356027	Missense_Mutation	SNP	T	TCGA-A3-3322-01A-01W-0886-08	13916077	204356027	38843346	26	3183											
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T	rs375127172		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348			T	ETV1	prostate																																		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0													120	116	118					2																	223782769		2203	4300	6503	SO:0001583	missense	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.562A>T	2.37:g.223782769A>T	ENSP00000350012:p.Thr188Ser		Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846478	0.91277	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.097447	0.64402	D	0.000001	T	0.58963	0.2159	L	0.61036	1.89	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.54642	-0.8263	10	0.25106	T	0.35	-17.5461	15.2561	0.73585	1.0:0.0:0.0:0.0	.	188	O95573	ACSL3_HUMAN	S	188;188;36	ENSP00000350012:T188S;ENSP00000375918:T188S;ENSP00000441643:T36S	ENSP00000350012:T188S	T	+	1	0	ACSL3	223491013	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.757000	0.91657	2.185000	0.69588	0.533000	0.62120	ACA		0.348	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		T	223782769	A	T	223782769	3	4	44	1	0	0	0	0	1	0	0	0	178	391	14	5	572	5	ACSL3	2	223782769	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08	19426742	223782769	19416604	27	3184											
SCG2	7857	broad.mit.edu	37	2	224462781	224462781	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:224462781T>C	ENST00000305409.2	-	2	1452	c.1220A>G	c.(1219-1221)aAt>aGt	p.N407S		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGCATCCTATTTTGGAACAG	0.502																																																0													75	71	72					2																	224462781		2203	4300	6503	SO:0001583	missense	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1220A>G	2.37:g.224462781T>C	ENSP00000304133:p.Asn407Ser		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	7.588	0.670182	0.14776	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01505	4.82	5.86	1.64	0.23874	.	0.376604	0.29300	N	0.012558	T	0.01156	0.0038	N	0.13235	0.315	0.30329	N	0.786803	B	0.13145	0.007	B	0.14578	0.011	T	0.39941	-0.9589	10	0.25751	T	0.34	.	5.9181	0.19065	0.0:0.1747:0.1346:0.6907	.	407	P13521	SCG2_HUMAN	S	407;267	ENSP00000304133:N407S	ENSP00000304133:N407S	N	-	2	0	SCG2	224171025	0.979000	0.34478	0.922000	0.36590	0.847000	0.48162	0.902000	0.28459	0.301000	0.22738	0.528000	0.53228	AAT		0.502	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		C	224462781	T	C	224462781	3	2	44	1	0	0	0	0	1	0	0	0	13897	1493	52	3	637	3	SCG2	2	224462781	Missense_Mutation	SNP	T	TCGA-A3-3322-01A-01W-0886-08	680012	224462781	18736592	28	3185											
PBRM1	55193	broad.mit.edu	37	3	52610585	52610585	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:52610585delT	ENST00000296302.7	-	22	3664	c.3663delA	c.(3661-3663)gaafs	p.E1222fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E1237fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E1237fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.E1190fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E1222fs			Q86U86	PB1_HUMAN	polybromo 1	1222	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCAGGTTTCTTCCAGATTAC	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													136	131	133					3																	52610585		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3663delA	3.37:g.52610585delT	ENSP00000296302:p.Glu1222fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52610585	T	-	52610585	7	5	44	1	0	1	0	1	0	0	0	0	11493	1606	56	0	1273	0	PBRM1	3	52610585	Frame_Shift_Del	DEL	T	TCGA-A3-3322-01A-01W-0886-08		52610585	145411845	29	3186											
ITIH4	3700	broad.mit.edu	37	3	52858969	52858969	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:52858969C>T	ENST00000266041.4	-	7	861	c.765G>A	c.(763-765)gaG>gaA	p.E255E	ITIH4_ENST00000434759.3_Silent_p.E167E|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000346281.5_Silent_p.E255E|ITIH4-AS1_ENST00000478366.1_RNA|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Silent_p.E255E|ITIH4_ENST00000406595.1_Silent_p.E255E	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	255					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGTAGCCGTTCTCGATCTGTG	0.537																																																0													87	80	83					3																	52858969		2203	4300	6503	SO:0001819	synonymous_variant	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.765G>A	3.37:g.52858969C>T			B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	C	5.442	0.266638	0.10294	.	.	ENSG00000055955	ENST00000441637	T	0.01902	4.57	5.6	4.72	0.59763	.	0.302294	0.28778	N	0.014179	T	0.05593	0.0147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41197	-0.9522	7	0.42905	T	0.14	-42.6212	9.7155	0.40272	0.0:0.6833:0.2426:0.0741	.	.	.	.	K	113	ENSP00000395634:E113K	ENSP00000395634:E113K	E	-	1	0	ITIH4	52834009	0.990000	0.36364	0.999000	0.59377	0.643000	0.38383	0.371000	0.20450	1.380000	0.46344	0.561000	0.74099	GAA		0.537	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		T	52858969	C	T	52858969	2	4	44	1	0	0	0	0	0	0	0	1	7908	912	32	2		2	ITIH4	3	52858969	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08	248384	52858969	145163461	30	3187											
ABHD6	57406	broad.mit.edu	37	3	58270856	58270856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:58270856C>A	ENST00000478253.1	+	8	1227	c.726C>A	c.(724-726)ttC>ttA	p.F242L	ABHD6_ENST00000295962.4_Missense_Mutation_p.F242L			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	242					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ATAACAACTTCTACCGAAAGT	0.423																																																0													127	109	115					3																	58270856		2203	4300	6503	SO:0001583	missense	57406			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.726C>A	3.37:g.58270856C>A	ENSP00000420315:p.Phe242Leu		B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319498	0.81469	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	T;T	0.75821	-0.97;-0.97	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	L	0.39514	1.22	0.52501	D	0.999959	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.98	T	0.71297	-0.4635	10	0.15952	T	0.53	-0.0317	7.7879	0.29103	0.0:0.8033:0.0:0.1967	.	242;242	Q9BV23;F5H7L1	ABHD6_HUMAN;.	L	242	ENSP00000420315:F242L;ENSP00000295962:F242L	ENSP00000295962:F242L	F	+	3	2	ABHD6	58245896	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.711000	0.25764	2.666000	0.90696	0.655000	0.94253	TTC		0.423	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		A	58270856	C	A	58270856	3	1	44	1	0	0	0	0	1	0	0	0	86	912	32	4	748	4	ABHD6	3	58270856	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	5411887	58270856	139751574	31	3188											
ZNF654	55279	broad.mit.edu	37	3	88189697	88189697	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:88189697A>G	ENST00000309495.5	+	1	1444	c.1237A>G	c.(1237-1239)Atg>Gtg	p.M413V	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGACCAAAAGATGCCTGACAT	0.343																																																0													70	72	71					3																	88189697		1858	4095	5953	SO:0001583	missense	55279			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1237A>G	3.37:g.88189697A>G	ENSP00000312141:p.Met413Val		Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	A	3.262	-0.150941	0.06585	.	.	ENSG00000175105	ENST00000309495	T	0.09073	3.02	5.44	2.91	0.33838	.	.	.	.	.	T	0.07863	0.0197	L	0.44542	1.39	0.26244	N	0.978827	B	0.20887	0.049	B	0.22386	0.039	T	0.42085	-0.9472	9	0.13108	T	0.6	.	9.8667	0.41148	0.7271:0.0:0.0:0.2729	.	413	Q8IZM8	ZN654_HUMAN	V	413	ENSP00000312141:M413V	ENSP00000312141:M413V	M	+	1	0	ZNF654	88272387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.734000	0.47368	0.294000	0.22547	0.482000	0.46254	ATG		0.343	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		G	88189697	A	G	88189697	3	3	44	1	0	0	0	0	1	0	0	0	18072	333	12	3	1239	3	ZNF654	3	88189697	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08	29918841	88189697	109832733	32	3189											
NIT2	56954	broad.mit.edu	37	3	100058770	100058770	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:100058770C>G	ENST00000394140.4	+	3	329	c.238C>G	c.(238-240)Ctc>Gtc	p.L80V		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	80	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CAGCATATATCTCATTGGAGG	0.418																																																0													76	73	74					3																	100058770		2203	4300	6503	SO:0001583	missense	56954			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.238C>G	3.37:g.100058770C>G	ENSP00000377696:p.Leu80Val		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	CCDS33806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.374934|2.374934	0.42105|0.42105	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000394140|ENST00000497785	D|.	0.86030|.	-2.06|.	5.24|5.24	4.36|4.36	0.52297|0.52297	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);|.	0.197014|.	0.43747|.	N|.	0.000525|.	T|T	0.61974|0.61974	0.2390|0.2390	L|L	0.46670|0.46670	1.46|1.46	0.48901|0.48901	D|D	0.999727|0.999727	P;B|.	0.39717|.	0.684;0.003|.	B;B|.	0.35550|.	0.205;0.019|.	T|T	0.59700|0.59700	-0.7405|-0.7405	10|5	0.45353|.	T|.	0.12|.	-14.0103|-14.0103	15.8251|15.8251	0.78698|0.78698	0.0:0.8547:0.1453:0.0|0.0:0.8547:0.1453:0.0	.|.	80;80|.	B7Z3F9;Q9NQR4|.	.;NIT2_HUMAN|.	V|C	80|173	ENSP00000377696:L80V|.	ENSP00000377696:L80V|.	L|S	+|+	1|2	0|0	NIT2|NIT2	101541460|101541460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.622000|3.622000	0.54217|0.54217	1.337000|1.337000	0.45525|0.45525	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.418	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		G	100058770	C	G	100058770	3	3	44	1	0	0	0	0	1	0	0	0	10436	913	32	4	248	4	NIT2	3	100058770	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	11869073	100058770	97963660	33	3190											
ABTB1	80325	broad.mit.edu	37	3	127395171	127395171	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:127395171T>C	ENST00000232744.8	+	5	463	c.377T>C	c.(376-378)tTc>tCc	p.F126S	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGGAAGCCATTCCGGGTGCAT	0.587																																																0													165	145	152					3																	127395171		2203	4300	6503	SO:0001583	missense	80325			AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.377T>C	3.37:g.127395171T>C	ENSP00000232744:p.Phe126Ser			Missense_Mutation	SNP	ENST00000232744.8	37	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	t	15.64	2.893578	0.52121	.	.	ENSG00000114626	ENST00000232744	T	0.71698	-0.59	4.41	4.41	0.53225	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	H	0.97962	4.115	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.975;0.983	D	0.93066	0.6478	10	0.87932	D	0	-23.1308	13.9724	0.64250	0.0:0.0:0.0:1.0	.	126;101	Q969K4;Q969K4-3	ABTB1_HUMAN;.	S	126	ENSP00000232744:F126S	ENSP00000232744:F126S	F	+	2	0	ABTB1	128877861	1.000000	0.71417	0.726000	0.30738	0.005000	0.04900	5.018000	0.64054	1.753000	0.51906	0.375000	0.23000	TTC		0.587	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		C	127395171	T	C	127395171	3	2	44	1	0	0	0	0	1	0	0	0	102	1783	62	3	395	3	ABTB1	3	127395171	Missense_Mutation	SNP	T	TCGA-A3-3322-01A-01W-0886-08	27336401	127395171	70627259	34	3191											
UBA5	79876	broad.mit.edu	37	3	132387710	132387710	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:132387710C>A	ENST00000356232.4	+	4	1418	c.346C>A	c.(346-348)Ctt>Att	p.L116I	UBA5_ENST00000473651.1_Missense_Mutation_p.L116I|UBA5_ENST00000264991.4_Missense_Mutation_p.L60I|UBA5_ENST00000494238.2_Missense_Mutation_p.L60I|UBA5_ENST00000493720.2_Missense_Mutation_p.L116I	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	116					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATGAATAGACTTTTCTTCCA	0.333																																																0													133	131	132					3																	132387710		2203	4298	6501	SO:0001583	missense	79876			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.346C>A	3.37:g.132387710C>A	ENSP00000348565:p.Leu116Ile		A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645891	0.87958	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000468022;ENST00000473651;ENST00000494238;ENST00000464068;ENST00000489361	T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.62	5.62	0.85841	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.83275	0.934;0.996	T	0.26780	-1.0093	10	0.38643	T	0.18	-17.9414	19.6753	0.95930	0.0:1.0:0.0:0.0	.	116;116	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	I	60;116;116;60;116;60;26;60	ENSP00000264991:L60I;ENSP00000348565:L116I;ENSP00000417879:L116I;ENSP00000418569:L60I;ENSP00000424984:L116I;ENSP00000418807:L60I;ENSP00000420055:L26I;ENSP00000417905:L60I	ENSP00000264991:L60I	L	+	1	0	UBA5	133870400	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.757000	0.85209	2.648000	0.89879	0.563000	0.77884	CTT		0.333	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		A	132387710	C	A	132387710	3	1	44	1	0	0	0	0	1	0	0	0	16835	565	20	4	360	4	UBA5	3	132387710	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	4992539	132387710	65634720	35	3192											
EVC	2121	broad.mit.edu	37	4	5798782	5798782	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:5798782delG	ENST00000264956.6	+	14	2104	c.1920delG	c.(1918-1920)ctgfs	p.L642fs	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Frame_Shift_Del_p.L642fs	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	642					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGCATGACCTGCTGTTGCGCT	0.647																																																0													43	43	43					4																	5798782		2202	4300	6502	SO:0001589	frameshift_variant	2121			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1920delG	4.37:g.5798782delG	ENSP00000264956:p.Leu642fs			Frame_Shift_Del	DEL	ENST00000264956.6	37	CCDS3383.1																																																																																				0.647	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			-	5798782	G	-	5798782	7	5	44	1	0	1	0	1	0	0	0	0	5287	1306	46	0	1974	0	EVC	4	5798782	Frame_Shift_Del	DEL	G	TCGA-A3-3322-01A-01W-0886-08		5798782	185355494	36	3193											
COL25A1	84570	broad.mit.edu	37	4	109753571	109753571	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:109753571C>T	ENST00000399132.1	-	32	2205	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	COL25A1_ENST00000399126.1_Missense_Mutation_p.G559R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G571R	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCATGGGGTCCCATAGGACCA	0.393																																																0													57	55	56					4																	109753571		1817	4073	5890	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1675G>A	4.37:g.109753571C>T	ENSP00000382083:p.Gly559Arg			Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.215867|3.215867	0.58452|0.58452	.|.	.|.	ENSG00000188517|ENSG00000188517	ENST00000443653|ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126	.|D;D;D	.|0.99537	.|-6.11;-5.77;-6.11	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99832|0.99832	0.9924|0.9924	H|H	0.97962|0.97962	4.115|4.115	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.96949|0.96949	0.9693|0.9693	6|9	.|.	.|.	.|.	-7.6765|-7.6765	20.1325|20.1325	0.98004|0.98004	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|559;559	.|Q9BXS0-2;Q9BXS0	.|.;COPA1_HUMAN	E|R	486|559;561;540;571;559	.|ENSP00000382083:G559R;ENSP00000382078:G571R;ENSP00000382077:G559R	.|.	G|G	-|-	2|1	0|0	COL25A1|COL25A1	109973020|109973020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.871000|5.871000	0.69628|0.69628	2.839000|2.839000	0.97877|0.97877	0.650000|0.650000	0.86243|0.86243	GGG|GGA		0.393	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		T	109753571	C	T	109753571	3	4	44	1	0	0	0	0	1	0	0	0	3686	632	22	2	401	2	COL25A1	4	109753571	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	103954789	109753571	81400705	37	3194											
SPRY1	10252	broad.mit.edu	37	4	124323146	124323146	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:124323146G>A	ENST00000394339.2	+	2	740	c.400G>A	c.(400-402)Gga>Aga	p.G134R	SPRY1_ENST00000339241.1_Missense_Mutation_p.G134R	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	134					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TTCTGAACAGGGACTGTTAGG	0.542																																																0													59	61	60					4																	124323146		2203	4300	6503	SO:0001583	missense	10252			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.400G>A	4.37:g.124323146G>A	ENSP00000377871:p.Gly134Arg		D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	G	7.289	0.610775	0.14066	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.49432	0.78;2.11;0.78	5.06	4.19	0.49359	.	0.065235	0.64402	D	0.000011	T	0.40247	0.1109	N	0.14661	0.345	0.58432	D	0.999994	D	0.54047	0.964	P	0.50860	0.652	T	0.21621	-1.0240	9	.	.	.	-16.1803	14.9998	0.71462	0.0:0.1433:0.8567:0.0	.	134	O43609	SPY1_HUMAN	R	134	ENSP00000343785:G134R;ENSP00000421036:G134R;ENSP00000377871:G134R	.	G	+	1	0	SPRY1	124542596	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	5.839000	0.69395	1.302000	0.44855	0.561000	0.74099	GGA		0.542	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			A	124323146	G	A	124323146	3	1	44	1	0	0	0	0	1	0	0	0	15110	1233	43	2	402	2	SPRY1	4	124323146	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	14569575	124323146	66831130	38	3195											
RPS3A	6189	broad.mit.edu	37	4	152022142	152022142	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:152022142G>A	ENST00000274065.4	+	3	262	c.182G>A	c.(181-183)gGt>gAt	p.G61D	SNORD73A_ENST00000386062.1_RNA|RPS3A_ENST00000514682.1_Missense_Mutation_p.G24D|RPS3A_ENST00000506126.1_Missense_Mutation_p.G24D|RPS3A_ENST00000322686.6_Missense_Mutation_p.G48D|RPS3A_ENST00000509736.1_Intron|SNORD73_ENST00000364394.1_RNA|RPS3A_ENST00000512690.1_Missense_Mutation_p.G61D	NM_001006.4	NP_000997.1			ribosomal protein S3A											endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GCATCTGATGGTCTCAAGGGT	0.348																																																0													43	43	43					4																	152022142		2100	4251	6351	SO:0001583	missense	6189			X87373	CCDS3775.1	4q31.2-q31.3	2011-04-05			ENSG00000145425	ENSG00000145425		"S ribosomal proteins"	10421	protein-coding gene	gene with protein product		180478		MFTL		8647443, 1398113	Standard	NM_001006		Approved	S3A	uc003ilz.4	P61247	OTTHUMG00000161445	ENST00000274065.4:c.182G>A	4.37:g.152022142G>A	ENSP00000346050:p.Gly61Asp			Missense_Mutation	SNP	ENST00000274065.4	37	CCDS3775.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999515	0.74818	.	.	ENSG00000145425	ENST00000274065;ENST00000505243;ENST00000514682;ENST00000322686;ENST00000503002;ENST00000508783;ENST00000507327;ENST00000515792;ENST00000506126;ENST00000510993	.	.	.	5.54	5.54	0.83059	.	0.000000	0.34067	N	0.004285	D	0.85583	0.5730	H	0.94582	3.555	0.80722	D	1	P	0.36712	0.566	P	0.46850	0.529	D	0.88096	0.2816	9	0.72032	D	0.01	.	19.538	0.95262	0.0:0.0:1.0:0.0	.	61	P61247	RS3A_HUMAN	D	61;24;24;48;24;24;24;55;24;41	.	ENSP00000346050:G61D	G	+	2	0	RPS3A	152241592	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.811000	0.99226	2.614000	0.88457	0.555000	0.69702	GGT		0.348	RPS3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364957.1			A	152022142	G	A	152022142	3	1	44	1	0	0	0	0	1	0	0	0	13650	1261	44	2	192	2	RPS3A	4	152022142	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	27698996	152022142	39132134	39	3196											
DCHS2	54798	broad.mit.edu	37	4	155287426	155287426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:155287426delC	ENST00000357232.4	-	5	629	c.630delG	c.(628-630)gggfs	p.G210fs	DCHS2_ENST00000339452.1_Frame_Shift_Del_p.G804fs	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	210	Cadherin 2. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGCCACTGTCCCATATATCC	0.473																																																0													181	156	165					4																	155287426		2203	4300	6503	SO:0001589	frameshift_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.630delG	4.37:g.155287426delC	ENSP00000349768:p.Gly210fs		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	ENST00000357232.4	37	CCDS3785.1																																																																																				0.473	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		-	155287426	C	-	155287426	7	5	44	1	0	1	0	1	0	0	0	0	4290	842	30	0	8300	0	DCHS2	4	155287426	Frame_Shift_Del	DEL	C	TCGA-A3-3322-01A-01W-0886-08	3265284	155287426	35866850	40	3197											
MARCH6	10299	broad.mit.edu	37	5	10417514	10417514	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:10417514C>A	ENST00000274140.5	+	22	2413	c.2281C>A	c.(2281-2283)Cag>Aag	p.Q761K	MARCH6_ENST00000449913.2_Missense_Mutation_p.Q713K|MARCH6_ENST00000503788.1_Missense_Mutation_p.Q656K|MARCH6_ENST00000510792.1_Missense_Mutation_p.Q459K	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	761					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTATCCATGGCAGGTAAATGT	0.463																																																0													159	155	156					5																	10417514		2203	4300	6503	SO:0001583	missense	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2281C>A	5.37:g.10417514C>A	ENSP00000274140:p.Gln761Lys		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287826	0.80803	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.54866	1.59;0.55;1.59;0.55	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.83774	2.66	0.80722	D	1	D;P;B;P	0.61080	0.989;0.709;0.4;0.657	P;B;B;B	0.48921	0.595;0.181;0.146;0.126	T	0.71394	-0.4606	10	0.52906	T	0.07	-11.9678	17.5484	0.87869	0.0:1.0:0.0:0.0	.	656;713;341;761	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	K	713;656;761;459	ENSP00000414643:Q713K;ENSP00000425930:Q656K;ENSP00000274140:Q761K;ENSP00000424512:Q459K	ENSP00000274140:Q761K	Q	+	1	0	MARCH6	10470514	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.419000	0.80179	2.584000	0.87258	0.650000	0.86243	CAG		0.463	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		A	10417514	C	A	10417514	3	1	44	1	0	0	0	0	1	0	0	0	9307	711	25	4	2367	4	MARCH6	5	10417514	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08		10417514	170497746	41	3198											
BRD8	10902	broad.mit.edu	37	5	137480910	137480910	+	Silent	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:137480910A>G	ENST00000254900.5	-	25	3764	c.3393T>C	c.(3391-3393)ccT>ccC	p.P1131P		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1131	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTCTGACACAGGCTTCAGAA	0.463																																																0													170	155	160					5																	137480910		2203	4300	6503	SO:0001819	synonymous_variant	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3393T>C	5.37:g.137480910A>G			O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	CCDS4198.1																																																																																				0.463	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		G	137480910	A	G	137480910	2	3	44	1	0	0	0	0	0	0	0	1	1508	175	7	3		3	BRD8	5	137480910	Silent	SNP	A	TCGA-A3-3322-01A-01W-0886-08	127063396	137480910	43434350	42	3199											
SLC23A1	9963	broad.mit.edu	37	5	138715429	138715429	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:138715429G>T	ENST00000348729.3	-	8	909	c.863C>A	c.(862-864)gCa>gAa	p.A288E	SLC23A1_ENST00000353963.3_Missense_Mutation_p.A292E|SLC23A1_ENST00000503919.1_5'Flank	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	288					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	ATCGGTTCGTGCCTGGAAGCC	0.592																																																0													120	86	97					5																	138715429		2203	4300	6503	SO:0001583	missense	9963			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.863C>A	5.37:g.138715429G>T	ENSP00000302701:p.Ala288Glu		O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862506	0.91511	.	.	ENSG00000170482	ENST00000353963;ENST00000348729	T;T	0.20332	2.09;2.08	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.991	T	0.57573	-0.7788	10	0.72032	D	0.01	-10.4162	16.5892	0.84760	0.0:0.0:1.0:0.0	.	288;292	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	E	292;288	ENSP00000302851:A292E;ENSP00000302701:A288E	ENSP00000302701:A288E	A	-	2	0	SLC23A1	138743328	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.406000	0.73276	2.449000	0.82847	0.561000	0.74099	GCA		0.592	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		T	138715429	G	T	138715429	3	4	44	1	0	0	0	0	1	0	0	0	14468	1319	46	4	961	4	SLC23A1	5	138715429	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	1234519	138715429	42199831	43	3200											
PCDHB6	56130	broad.mit.edu	37	5	140530370	140530370	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:140530370C>T	ENST00000231136.1	+	1	532	c.532C>T	c.(532-534)Cac>Tac	p.H178Y	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCACTTCCACGTTCTCAC	0.542																																																0													145	152	150					5																	140530370		2203	4300	6503	SO:0001583	missense	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.532C>T	5.37:g.140530370C>T	ENSP00000231136:p.His178Tyr		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025837	0.19512	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.51325	0.71;0.71	4.7	2.78	0.32641	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60805	0.2297	M	0.71206	2.165	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48658	-0.9016	9	0.54805	T	0.06	.	3.0732	0.06237	0.1416:0.5444:0.1385:0.1754	.	178	Q9Y5E3	PCDB6_HUMAN	Y	42;178	ENSP00000438466:H42Y;ENSP00000231136:H178Y	ENSP00000231136:H178Y	H	+	1	0	PCDHB6	140510554	0.000000	0.05858	0.996000	0.52242	0.950000	0.60333	-0.051000	0.11885	1.098000	0.41479	0.561000	0.74099	CAC		0.542	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		T	140530370	C	T	140530370	3	4	44	1	0	0	0	0	1	0	0	0	11548	594	21	2	534	2	PCDHB6	5	140530370	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	1814941	140530370	40384890	44	3201											
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																																0																																										SO:0001627	intron_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC				Frame_Shift_Ins	INS	ENST00000379597.3	37	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		C	10557410	-	C	10557409	6	5	44	0	1	1	1	0	0	0	0	0	6303	1538	54	0		0	GCNT2	6	10557409	Intron	INS	-	TCGA-A3-3322-01A-01W-0886-08		10557409	160557658	45	3202											
HLA-F	3134	broad.mit.edu	37	6	29694668	29694668	+	IGR	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:29694668G>A	ENST00000376861.1	+	0	1544				HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Missense_Mutation_p.V220M|HLA-F_ENST00000259951.7_Missense_Mutation_p.V349M			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCCTACTCAGTGGTCAGCGG	0.463																																																0													104	119	114					6																	29694668		1491	2694	4185	SO:0001628	intergenic_variant	3134			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694668G>A			Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.252302	0.22880	.	.	ENSG00000204642	ENST00000449921;ENST00000259951;ENST00000399258;ENST00000440587	T;T	0.00745	5.75;5.8	0.62	0.62	0.17637	.	.	.	.	.	T	0.00552	0.0018	N	0.14661	0.345	0.27138	N	0.961736	B;D	0.58970	0.318;0.984	B;D	0.65323	0.012;0.934	T	0.57871	-0.7736	9	0.87932	D	0	.	7.0003	0.24805	1.0E-4:0.0:0.9999:0.0	.	349;349	A8MVU7;P30511-3	.;.	M	326;349;263;220	ENSP00000259951:V349M;ENSP00000404130:V220M	ENSP00000259951:V349M	V	+	1	0	HLA-F	29802647	1.000000	0.71417	0.109000	0.21407	0.027000	0.11550	6.536000	0.73842	0.580000	0.29522	0.436000	0.28706	GTG		0.463	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		A	29694668	G	A	29694668	1	1	44	0	1	0	0	0	0	0	0	0	7213	1029	36	2		2	HLA-F	6	29694668	IGR	SNP	G	TCGA-A3-3322-01A-01W-0886-08	19137259	29694668	141420399	46	3203											
BAT2	7916	broad.mit.edu	37	6	31599818	31599818	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:31599818A>C	ENST00000376033.2	+	16	3602	c.3368A>C	c.(3367-3369)gAg>gCg	p.E1123A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1123A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1123	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCAGACAAGGAGGCTCCCACA	0.647																																																0													44	57	52					6																	31599818		1509	2709	4218	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3368A>C	6.37:g.31599818A>C	ENSP00000365201:p.Glu1123Ala		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845335	0.32606	.	.	ENSG00000204469	ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01998	4.51;4.51	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000022	T	0.04137	0.0115	L	0.42245	1.32	0.58432	D	0.99999	D	0.76494	0.999	D	0.63793	0.918	T	0.45293	-0.9271	10	0.87932	D	0	-18.0605	14.3437	0.66646	1.0:0.0:0.0:0.0	.	1123	P48634	PRC2A_HUMAN	A	1123;1123;348	ENSP00000365175:E1123A;ENSP00000365201:E1123A	ENSP00000365175:E1123A	E	+	2	0	PRRC2A	31707797	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.582000	0.60957	2.228000	0.72767	0.533000	0.62120	GAG		0.647	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		C	31599818	A	C	31599818	3	2	44	1	0	0	0	0	1	0	0	0	1319	304	11	5	3426	5	BAT2	6	31599818	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08	1905150	31599818	139515249	47	3204											
PRIM2	5558	broad.mit.edu	37	6	57185310	57185310	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:57185310C>T	ENST00000607273.1	+	3	297	c.210C>T	c.(208-210)taC>taT	p.Y70Y	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	70					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTGAACAATACCAGAGTAAGT	0.308																																																0													58	58	58					6																	57185310		1815	4076	5891	SO:0001819	synonymous_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.210C>T	6.37:g.57185310C>T			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37																																																																																					0.308	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		T	57185310	C	T	57185310	2	4	44	1	0	0	0	0	0	0	0	1	12496	518	18	2		2	PRIM2	6	57185310	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08	25585492	57185310	113929757	48	3205											
IPCEF1	26034	broad.mit.edu	37	6	154587060	154587060	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:154587060C>T	ENST00000265198.4	-	3	177	c.22G>A	c.(22-24)Gat>Aat	p.D8N	IPCEF1_ENST00000422970.2_Missense_Mutation_p.D8N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.D8N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	8					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GCACTGCCATCAATAGCCATG	0.323																																																0													150	155	153					6																	154587060		2203	4300	6503	SO:0001583	missense	26034			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"Pleckstrin homology (PH) domain containing"	21204	protein-coding gene	gene with protein product	"phosphoinositide binding protein PIP3-E"					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.22G>A	6.37:g.154587060C>T	ENSP00000265198:p.Asp8Asn		A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826830	0.32329	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000520261	T;T;T	0.14893	2.54;2.47;2.47	4.68	3.81	0.43845	.	0.598725	0.16497	N	0.211829	T	0.04137	0.0115	L	0.29908	0.895	0.80722	D	1	B;B	0.19073	0.007;0.033	B;B	0.15052	0.002;0.012	T	0.23440	-1.0188	10	0.16896	T	0.51	-4.8296	8.4129	0.32655	0.0:0.8943:0.0:0.1057	.	8;8	Q8WWN9;Q8WWN9-2	ICEF1_HUMAN;.	N	8	ENSP00000265198:D8N;ENSP00000394751:D8N;ENSP00000356189:D8N	ENSP00000265198:D8N	D	-	1	0	IPCEF1	154628752	0.447000	0.25673	0.407000	0.26434	0.893000	0.52053	1.977000	0.40589	1.188000	0.43014	0.655000	0.94253	GAT		0.323	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		T	154587060	C	T	154587060	3	4	44	1	0	0	0	0	1	0	0	0	7793	826	29	2	1334	2	IPCEF1	6	154587060	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	97401750	154587060	16528007	49	3206											
SDK1	221935	broad.mit.edu	37	7	4008946	4008947	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:4008946_4008947insG	ENST00000404826.2	+	11	1743_1744	c.1604_1605insG	c.(1603-1608)tcggggfs	p.SG535fs	SDK1_ENST00000389531.3_Frame_Shift_Ins_p.SG535fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	535	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTCTTGAATCGGGGGGTCTAC	0.545																																																0																																										SO:0001589	frameshift_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1610dupG	7.37:g.4008952_4008952dupG	ENSP00000385899:p.Ser535fs		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Ins	INS	ENST00000404826.2	37	CCDS34590.1																																																																																				0.545	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		G	4008947	-	G	4008946	7	5	44	1	0	1	1	0	0	0	0	0	13974	893	31	0	1646	0	SDK1	7	4008946	Frame_Shift_Ins	INS	-	TCGA-A3-3322-01A-01W-0886-08		4008946	155129717	50	3207											
VPS41	27072	broad.mit.edu	37	7	38816289	38816289	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:38816289G>A	ENST00000310301.4	-	11	926	c.872C>T	c.(871-873)tCa>tTa	p.S291L	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.S266L	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	291					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CGTTTTTTCTGAAATCTCCTT	0.403																																																0													84	75	78					7																	38816289		2203	4300	6503	SO:0001583	missense	27072			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.872C>T	7.37:g.38816289G>A	ENSP00000309457:p.Ser291Leu		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.350936	0.61183	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.52526	0.66;0.66	6.06	5.17	0.71159	.	0.371341	0.31415	N	0.007690	T	0.38852	0.1056	L	0.42529	1.33	0.45979	D	0.998791	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.14392	-1.0474	10	0.37606	T	0.19	-5.7921	10.9195	0.47156	0.1387:0.0:0.8613:0.0	.	291;266;291	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	L	291;266	ENSP00000309457:S291L;ENSP00000379297:S266L	ENSP00000309457:S291L	S	-	2	0	VPS41	38782814	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	4.508000	0.60441	2.882000	0.98803	0.655000	0.94253	TCA		0.403	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			A	38816289	G	A	38816289	3	1	44	1	0	0	0	0	1	0	0	0	17215	1294	45	2	1768	2	VPS41	7	38816289	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	34807343	38816289	120322374	51	3208											
SGCE	8910	broad.mit.edu	37	7	94257637	94257637	+	Silent	SNP	T	T	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:94257637T>A	ENST00000265735.7	-	3	377	c.267A>T	c.(265-267)acA>acT	p.T89T	SGCE_ENST00000445866.2_Silent_p.T89T|SGCE_ENST00000428696.2_Silent_p.T89T|SGCE_ENST00000415788.2_Silent_p.T125T|SGCE_ENST00000447873.1_Silent_p.T89T|SGCE_ENST00000437425.2_Silent_p.T48T	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	89					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCATTAAATTTGTATTAAATG	0.383																																																0													73	69	70					7																	94257637		2203	4299	6502	SO:0001819	synonymous_variant	8910			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.267A>T	7.37:g.94257637T>A			B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Silent	SNP	ENST00000265735.7	37	CCDS5637.1																																																																																				0.383	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			A	94257637	T	A	94257637	2	1	44	1	0	0	0	0	0	0	0	1	14208	1799	63	5		5	SGCE	7	94257637	Silent	SNP	T	TCGA-A3-3322-01A-01W-0886-08	55441348	94257637	64881026	52	3209											
ORC5L	5001	broad.mit.edu	37	7	103807322	103807322	+	Silent	SNP	C	C	T	rs377574889		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:103807322C>T	ENST00000297431.4	-	10	1030	c.888G>A	c.(886-888)gcG>gcA	p.A296A	ORC5_ENST00000545943.1_Silent_p.A164A	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	296					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CATGAGTATGCGCTGAGAGGC	0.358																																																0								C		0,4406		0,0,2203	94	98	96		888	-7.8	0.9	7		96	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ORC5	NM_002553.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		296/436	103807322	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	5001				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 117"	602331	"origin recognition complex, subunit 5 (yeast homolog)-like", "origin recognition complex, subunit 5-like (yeast)", "origin recognition complex, subunit 5 homolog (yeast)"	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.888G>A	7.37:g.103807322C>T			A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	37	CCDS5734.1																																																																																				0.358	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		T	103807322	C	T	103807322	2	4	44	1	0	0	0	0	0	0	0	1	11267	755	27	1		1	ORC5L	7	103807322	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08	9549685	103807322	55331341	53	3210											
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398									Pendred syndrome																																							0													211	198	202					7																	107315388		2203	4300	6503	SO:0001630	splice_region_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.601-1A>T	7.37:g.107315388A>T			B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797617	0.70567	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107102624	1.000000	0.71417	0.995000	0.50966	0.749000	0.42624	8.456000	0.90359	2.135000	0.66039	0.528000	0.53228	.		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	T	107315388	A	T	107315388	5	4	44	1	0	0	0	0	0	0	1	0	14525	434	15	5	617	5	SLC26A4	7	107315388	Splice_Site	SNP	A	TCGA-A3-3322-01A-01W-0886-08	3508066	107315388	51823275	54	3211											
CHRM2	1129	broad.mit.edu	37	7	136699840	136699840	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:136699840C>T	ENST00000445907.2	+	3	756	c.228C>T	c.(226-228)tcC>tcT	p.S76S	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Silent_p.S76S|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Silent_p.S76S|CHRM2_ENST00000453373.1_Silent_p.S76S|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.S76S|CHRM2_ENST00000402486.3_Silent_p.S76S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	76					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTGTTTTCTCCATGAACTTGT	0.473																																																0													224	197	206					7																	136699840		2203	4300	6503	SO:0001819	synonymous_variant	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.228C>T	7.37:g.136699840C>T			Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	CCDS5843.1																																																																																				0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			T	136699840	C	T	136699840	2	4	44	1	0	0	0	0	0	0	0	1	3379	581	21	2		2	CHRM2	7	136699840	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08	29384452	136699840	22438823	55	3212											
EGR3	1960	broad.mit.edu	37	8	22548538	22548538	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:22548538G>A	ENST00000317216.2	-	2	969	c.612C>T	c.(610-612)ggC>ggT	p.G204G	EGR3_ENST00000522910.1_Silent_p.G166G|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	204					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CCGGAATGGAGCCCATGTCGT	0.577																																																0													64	67	66					8																	22548538		2203	4300	6503	SO:0001819	synonymous_variant	1960			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"Zinc fingers, C2H2-type"	3240	protein-coding gene	gene with protein product	"zinc finger protein pilot"	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.612C>T	8.37:g.22548538G>A			A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Silent	SNP	ENST00000317216.2	37	CCDS6033.1																																																																																				0.577	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		A	22548538	G	A	22548538	2	1	44	1	0	0	0	0	0	0	0	1	4975	958	34	2		2	EGR3	8	22548538	Silent	SNP	G	TCGA-A3-3322-01A-01W-0886-08		22548538	123815484	56	3213											
SDR16C5	195814	broad.mit.edu	37	8	57219234	57219234	+	Splice_Site	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:57219234C>T	ENST00000303749.3	-	5	1348		c.e5+1		SDR16C5_ENST00000396721.2_Splice_Site|SDR16C5_ENST00000522671.1_Splice_Site	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5						detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GACATACTTACCCTGTAGTAC	0.289																																																0													65	66	65					8																	57219234		2203	4300	6503	SO:0001630	splice_region_variant	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.710+1G>A	8.37:g.57219234C>T			B4DGK2|Q330K3|Q8TDV9|Q96LX1	Splice_Site	SNP	ENST00000303749.3	37	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432018	0.62844	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.492	0.95054	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDR16C5	57381788	1.000000	0.71417	0.952000	0.39060	0.530000	0.34684	7.671000	0.83941	2.614000	0.88457	0.650000	0.86243	.		0.289	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969	Intron	T	57219234	C	T	57219234	5	4	44	1	0	0	0	0	0	0	1	0	13977	521	18	2	230	2	SDR16C5	8	57219234	Splice_Site	SNP	C	TCGA-A3-3322-01A-01W-0886-08	34670696	57219234	89144788	57	3214											
ENPP2	5168	broad.mit.edu	37	8	120569905	120569905	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:120569905T>C	ENST00000075322.6	-	25	2506	c.2448A>G	c.(2446-2448)gtA>gtG	p.V816V	ENPP2_ENST00000522167.1_Silent_p.V451V|ENPP2_ENST00000522826.1_Silent_p.V841V|ENPP2_ENST00000427067.2_Silent_p.V837V|ENPP2_ENST00000259486.6_Silent_p.V868V	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	816					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGAGTTCTTCTACCCATTTTG	0.458																																					Melanoma(20;305 879 2501 4818 31020)											0													187	168	175					8																	120569905		2203	4300	6503	SO:0001819	synonymous_variant	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2448A>G	8.37:g.120569905T>C			A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	CCDS34936.1																																																																																				0.458	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			C	120569905	T	C	120569905	2	2	44	1	0	0	0	0	0	0	0	1	5132	1509	53	3		3	ENPP2	8	120569905	Silent	SNP	T	TCGA-A3-3322-01A-01W-0886-08	63350671	120569905	25794117	58	3215											
ADCY8	114	broad.mit.edu	37	8	131896886	131896886	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:131896886C>T	ENST00000286355.5	-	8	4125	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R678Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	678					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATCGCCACTCCGCAAGTCGAT	0.458										HNSCC(32;0.087)																																						0													140	133	135					8																	131896886		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2033G>A	8.37:g.131896886C>T	ENSP00000286355:p.Arg678Gln			Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793944	0.90453	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.78707	-1.2;-1.2	5.98	5.98	0.97165	.	0.054567	0.85682	D	0.000000	D	0.87301	0.6143	M	0.68952	2.095	0.54753	D	0.999983	D;P	0.71674	0.998;0.836	D;B	0.79108	0.992;0.106	D	0.84783	0.0774	10	0.37606	T	0.19	.	19.5094	0.95135	0.0:1.0:0.0:0.0	.	678;678	E7EVL1;P40145	.;ADCY8_HUMAN	Q	678	ENSP00000286355:R678Q;ENSP00000367161:R678Q	ENSP00000286355:R678Q	R	-	2	0	ADCY8	131966068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.319000	0.79040	2.861000	0.98227	0.650000	0.86243	CGG		0.458	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			T	131896886	C	T	131896886	3	4	44	1	0	0	0	0	1	0	0	0	300	652	23	1	1766	1	ADCY8	8	131896886	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	11326981	131896886	14467136	59	3216											
PRSS3	5646	broad.mit.edu	37	9	33795585	33795585	+	Intron	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr9:33795585T>C	ENST00000361005.5	+	2	211				PRSS3_ENST00000379405.3_Missense_Mutation_p.L5P|PRSS3_ENST00000429677.3_Intron|PRSS3_ENST00000342836.4_Intron|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AATCCATTCCTGATCCTTGCC	0.572																																																0													177	127	144					9																	33795585		2203	4300	6503	SO:0001627	intron_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1056T>C	9.37:g.33795585T>C			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.439840	0.43326	.	.	ENSG00000010438	ENST00000379405	D	0.89939	-2.59	3.85	3.85	0.44370	.	.	.	.	.	D	0.91676	0.7369	M	0.66297	2.02	0.80722	D	1	P	0.52316	0.952	P	0.59056	0.851	D	0.92050	0.5647	9	0.87932	D	0	.	10.9172	0.47144	0.0:0.0:0.0:1.0	.	5	P35030-3	.	P	5	ENSP00000368715:L5P	ENSP00000368715:L5P	L	+	2	0	PRSS3	33785585	1.000000	0.71417	0.990000	0.47175	0.027000	0.11550	5.575000	0.67430	1.539000	0.49286	0.254000	0.18369	CTG		0.572	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		C	33795585	T	C	33795585	1	2	44	0	1	0	0	0	0	0	0	0	12627	1580	55	3		3	PRSS3	9	33795585	Intron	SNP	T	TCGA-A3-3322-01A-01W-0886-08		33795585	107417846	60	3217											
CDK5RAP2	55755	broad.mit.edu	37	9	123253705	123253705	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr9:123253705C>A	ENST00000349780.4	-	13	1541	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E454D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	454					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCATTGCTTTCTCTCTTTCAT	0.313																																																0													167	144	152					9																	123253705		2202	4299	6501	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1362G>T	9.37:g.123253705C>A	ENSP00000343818:p.Glu454Asp		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905326	0.33628	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.76	4.86	0.63082	.	0.094530	0.45867	D	0.000324	T	0.60261	0.2255	M	0.71581	2.175	0.35541	D	0.803095	D;D;D;D	0.76494	0.999;0.995;0.971;0.991	D;D;D;P	0.65684	0.937;0.914;0.937;0.822	T	0.65697	-0.6105	10	0.14656	T	0.56	.	9.8904	0.41288	0.0:0.8317:0.0:0.1683	.	255;454;454;454	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	D	454;454;454;454;456	ENSP00000354065:E454D;ENSP00000352258:E454D;ENSP00000343818:E454D;ENSP00000353317:E454D	ENSP00000341695:E456D	E	-	3	2	CDK5RAP2	122293526	1.000000	0.71417	0.991000	0.47740	0.350000	0.29205	2.179000	0.42528	1.444000	0.47605	-0.142000	0.14014	GAG		0.313	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		A	123253705	C	A	123253705	3	1	44	1	0	0	0	0	1	0	0	0	3148	912	32	4	4423	4	CDK5RAP2	9	123253705	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	89458120	123253705	17959726	61	3218											
ZBTB26	57684	broad.mit.edu	37	9	125681478	125681478	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr9:125681478C>A	ENST00000373656.3	-	2	809	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	ZBTB26_ENST00000373654.1_Missense_Mutation_p.G246C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TTATCACTGCCTGTATAAGAA	0.433																																																0													168	142	150					9																	125681478		2203	4300	6503	SO:0001583	missense	57684			AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23383	protein-coding gene	gene with protein product			"zinc finger protein 481"	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.736G>T	9.37:g.125681478C>A	ENSP00000362760:p.Gly246Cys		B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752078	0.31046	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.11169	2.8;2.8	5.52	5.52	0.82312	.	0.197468	0.43416	D	0.000574	T	0.11750	0.0286	L	0.42245	1.32	0.48696	D	0.999695	D	0.65815	0.995	B	0.43103	0.408	T	0.02138	-1.1207	10	0.41790	T	0.15	.	12.7596	0.57356	0.0:0.9255:0.0:0.0744	.	246	Q9HCK0	ZBT26_HUMAN	C	246	ENSP00000362760:G246C;ENSP00000362758:G246C	ENSP00000362758:G246C	G	-	1	0	ZBTB26	124721299	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.150000	0.42254	2.595000	0.87683	0.655000	0.94253	GGC		0.433	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		A	125681478	C	A	125681478	3	1	44	1	0	0	0	0	1	0	0	0	17538	681	24	4	593	4	ZBTB26	9	125681478	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	2427773	125681478	15531953	62	3219											
YME1L1	10730	broad.mit.edu	37	10	27431334	27431334	+	Missense_Mutation	SNP	C	C	G	rs143591480		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:27431334C>G	ENST00000326799.3	-	5	731	c.583G>C	c.(583-585)Gat>Cat	p.D195H	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Missense_Mutation_p.D138H	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	195					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACTGAAGATCTGAACAAATG	0.318																																																0								C	HIS/ASP,HIS/ASP	1,4405	2.1+/-5.4	0,1,2202	152	165	161		412,583	2.3	1	10	dbSNP_134	161	0,8600		0,0,4300	no	missense,missense	YME1L1	NM_014263.2,NM_139312.1	81,81	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	138/717,195/774	27431334	1,13005	2203	4300	6503	SO:0001583	missense	10730			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.583G>C	10.37:g.27431334C>G	ENSP00000318480:p.Asp195His		B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570893	0.65765	2.27E-4	0.0	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000396296	D;D	0.92699	-3.08;-3.09	5.39	2.31	0.28768	Peptidase M41, FtsH (1);	0.338410	0.34200	N	0.004161	D	0.89420	0.6710	L	0.27053	0.805	0.80722	D	1	P;B	0.44946	0.846;0.023	P;B	0.48141	0.568;0.013	D	0.89418	0.3708	10	0.72032	D	0.01	-9.791	15.5069	0.75748	0.0:0.6089:0.3911:0.0	.	138;195	Q96TA2-2;Q96TA2	.;YMEL1_HUMAN	H	138;195;195;130	ENSP00000365184:D138H;ENSP00000318480:D195H	ENSP00000318480:D195H	D	-	1	0	YME1L1	27471340	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.556000	0.45862	0.599000	0.29845	0.591000	0.81541	GAT		0.318	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		G	27431334	C	G	27431334	3	3	44	1	0	0	0	0	1	0	0	0	17492	913	32	4	1802	4	YME1L1	10	27431334	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08		27431334	108103413	63	3220											
ZNF33A	7581	broad.mit.edu	37	10	38301275	38301275	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:38301275C>T	ENST00000458705.2	+	2	164	c.6C>T	c.(4-6)aaC>aaT	p.N2N	ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000374618.3_Silent_p.N2N|ZNF33A_ENST00000432900.2_Intron|ZNF33A_ENST00000307441.9_Silent_p.N2N|ZNF33A_ENST00000469037.2_Silent_p.N2N			Q06730	ZN33A_HUMAN	zinc finger protein 33A	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACAAAATGAACAAGGTAAGTT	0.348																																																0													111	112	112					10																	38301275		2203	4300	6503	SO:0001819	synonymous_variant	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.6C>T	10.37:g.38301275C>T			A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	CCDS31182.1																																																																																				0.348	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		T	38301275	C	T	38301275	2	4	44	1	0	0	0	0	0	0	0	1	17859	477	17	2		2	ZNF33A	10	38301275	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08	10869941	38301275	97233472	64	3221											
ANKRD22	118932	broad.mit.edu	37	10	90591734	90591734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:90591734C>T	ENST00000371930.4	-	2	281	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	24										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TTCTTTCACCCACCGCCACAC	0.493																																																0													251	243	246					10																	90591734		2203	4300	6503	SO:0001587	stop_gained	118932			BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"Ankyrin repeat domain containing"	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.71G>A	10.37:g.90591734C>T	ENSP00000360998:p.Trp24*		B2R9Y7|Q8WU06	Nonsense_Mutation	SNP	ENST00000371930.4	37	CCDS7390.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624197	0.87560	.	.	ENSG00000152766	ENST00000371930	.	.	.	5.58	3.7	0.42460	.	0.333204	0.28257	N	0.016005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-2.9374	8.8041	0.34927	0.3045:0.5482:0.1473:0.0	.	.	.	.	X	24	.	ENSP00000360998:W24X	W	-	2	0	ANKRD22	90581714	1.000000	0.71417	0.100000	0.21137	0.630000	0.37929	2.734000	0.47368	0.696000	0.31696	0.561000	0.74099	TGG		0.493	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1	NM_144590		T	90591734	C	T	90591734	4	4	44	1	0	0	0	0	0	1	0	0	651	595	21	2	524	2	ANKRD22	10	90591734	Nonsense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	52290459	90591734	44943013	65	3222											
TECTB	6975	broad.mit.edu	37	10	114044312	114044312	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:114044312C>T	ENST00000369422.3	+	2	96	c.96C>T	c.(94-96)tgC>tgT	p.C32C		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	32	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTGTGTTTTGCTATCCCAAAA	0.458																																																0													101	92	95					10																	114044312		2203	4300	6503	SO:0001819	synonymous_variant	6975			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.96C>T	10.37:g.114044312C>T			Q5VW53	Silent	SNP	ENST00000369422.3	37	CCDS7571.1																																																																																				0.458	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		T	114044312	C	T	114044312	2	4	44	1	0	0	0	0	0	0	0	1	15753	805	28	2		2	TECTB	10	114044312	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08	23452578	114044312	21490435	66	3223											
TACC2	10579	broad.mit.edu	37	10	123844479	123844479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:123844479delC	ENST00000369005.1	+	4	2804	c.2464delC	c.(2464-2466)cccfs	p.P822fs	TACC2_ENST00000515603.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.P822fs|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Del_p.P822fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	822					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATCCGAGTGGCCCCTACTATC	0.577																																																0													103	103	103					10																	123844479		2203	4300	6503	SO:0001589	frameshift_variant	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2464delC	10.37:g.123844479delC	ENSP00000358001:p.Pro822fs		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Del	DEL	ENST00000369005.1	37	CCDS7626.1																																																																																				0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			-	123844479	C	-	123844479	7	5	44	1	0	1	0	1	0	0	0	0	15507	739	26	0	2474	0	TACC2	10	123844479	Frame_Shift_Del	DEL	C	TCGA-A3-3322-01A-01W-0886-08	9800167	123844479	11690268	67	3224											
HPS5	11234	broad.mit.edu	37	11	18318399	18318399	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:18318399A>G	ENST00000349215.3	-	12	1733	c.1456T>C	c.(1456-1458)Tca>Cca	p.S486P	HPS5_ENST00000396253.3_Missense_Mutation_p.S372P|HPS5_ENST00000438420.2_Missense_Mutation_p.S372P|HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000531848.1_Missense_Mutation_p.S372P	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	486					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCTGCTGTGAGGTGAATTCT	0.448									Hermansky-Pudlak syndrome																																							0													209	193	199					11																	18318399		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1456T>C	11.37:g.18318399A>G	ENSP00000265967:p.Ser486Pro		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350122	0.24512	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.56444	0.46;0.46;0.46;1.46	5.71	4.52	0.55395	.	0.637256	0.17082	N	0.187750	T	0.38772	0.1053	L	0.36672	1.1	0.09310	N	0.999999	P	0.37708	0.606	B	0.34824	0.19	T	0.21930	-1.0231	10	0.30854	T	0.27	.	9.0548	0.36399	0.7321:0.164:0.0:0.1039	.	486	Q9UPZ3	HPS5_HUMAN	P	372;372;486;372	ENSP00000379552:S372P;ENSP00000399590:S372P;ENSP00000265967:S486P;ENSP00000431758:S372P	ENSP00000265967:S486P	S	-	1	0	HPS5	18274975	0.984000	0.35163	0.903000	0.35520	0.886000	0.51366	2.537000	0.45702	2.182000	0.69389	0.460000	0.39030	TCA		0.448	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		G	18318399	A	G	18318399	3	3	44	1	0	0	0	0	1	0	0	0	7344	304	11	3	1981	3	HPS5	11	18318399	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08		18318399	116688117	68	3225											
NAT10	55226	broad.mit.edu	37	11	34161956	34161956	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:34161956G>A	ENST00000257829.3	+	24	2635	c.2429G>A	c.(2428-2430)cGg>cAg	p.R810Q	NAT10_ENST00000531159.2_Missense_Mutation_p.R738Q|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	810	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GCCCTGAGCCGGGAGGAGCTG	0.577																																																0													112	97	102					11																	34161956		2202	4298	6500	SO:0001583	missense	55226			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2429G>A	11.37:g.34161956G>A	ENSP00000257829:p.Arg810Gln		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055741	0.55325	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.29655	1.56;1.56	5.28	4.37	0.52481	.	0.145718	0.64402	D	0.000009	T	0.28466	0.0704	L	0.49126	1.545	0.52099	D	0.999942	B	0.16603	0.018	B	0.20184	0.028	T	0.05289	-1.0894	10	0.26408	T	0.33	-19.6006	12.6245	0.56622	0.0774:0.0:0.9226:0.0	.	810	Q9H0A0	NAT10_HUMAN	Q	810;738	ENSP00000257829:R810Q;ENSP00000433011:R738Q	ENSP00000257829:R810Q	R	+	2	0	NAT10	34118532	1.000000	0.71417	0.837000	0.33122	0.209000	0.24338	3.880000	0.56145	1.368000	0.46115	0.563000	0.77884	CGG		0.577	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		A	34161956	G	A	34161956	3	1	44	1	0	0	0	0	1	0	0	0	10176	1116	39	1	2519	1	NAT10	11	34161956	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	15843557	34161956	100844560	69	3226											
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448																																																0													209	198	202					11																	57947012		2201	4296	6497	SO:0001583	missense	219956			AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"GPCR / Class A : Olfactory receptors"	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.96A>T	11.37:g.57947012A>T	ENSP00000334934:p.Leu32Phe		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422402	0.25639	.	.	ENSG00000186509	ENST00000335397	T	0.01804	4.63	4.75	-9.5	0.00584	.	0.000000	0.35555	N	0.003126	T	0.04815	0.0130	M	0.77820	2.39	0.18873	N	0.999987	D	0.71674	0.998	D	0.63113	0.911	T	0.18023	-1.0350	10	0.54805	T	0.06	-3.2934	7.7301	0.28781	0.1236:0.1588:0.5605:0.1571	.	32	Q8NGQ5	OR9Q1_HUMAN	F	32	ENSP00000334934:L32F	ENSP00000334934:L32F	L	+	3	2	OR9Q1	57703588	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-4.246000	0.00267	-3.550000	0.00142	-0.376000	0.06991	TTA		0.448	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		T	57947012	A	T	57947012	3	4	44	1	0	0	0	0	1	0	0	0	11257	446	16	5	98	5	OR9Q1	11	57947012	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08	23785056	57947012	77059504	70	3227											
TTC12	54970	broad.mit.edu	37	11	113194723	113194723	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:113194723A>C	ENST00000529221.1	+	4	335	c.230A>C	c.(229-231)gAa>gCa	p.E77A	TTC12_ENST00000314756.3_Missense_Mutation_p.E77A|TTC12_ENST00000483239.2_Missense_Mutation_p.E77A|TTC12_ENST00000393020.1_Missense_Mutation_p.E77A	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	77										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAGAGTGCAGAAGAAATAAAC	0.323																																																0													147	138	141					11																	113194723		2201	4296	6497	SO:0001583	missense	54970			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.230A>C	11.37:g.113194723A>C	ENSP00000433757:p.Glu77Ala		Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	A	1.152	-0.646492	0.03531	.	.	ENSG00000149292	ENST00000529221;ENST00000429951;ENST00000442859;ENST00000531164;ENST00000529850;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000455306;ENST00000483239	T;T;T;T;T;T;T;T;T;T	0.46063	2.45;0.88;1.46;1.44;0.91;2.43;0.88;2.43;1.48;2.47	5.35	3.05	0.35203	Armadillo-type fold (1);	43.508400	0.00166	N	0.000000	T	0.27205	0.0667	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.14023	0.01;0.01	T	0.18871	-1.0323	10	0.37606	T	0.19	-1.6057	6.8622	0.24074	0.8207:0.0:0.1793:0.0	.	77;77	A8K8G6;Q9H892	.;TTC12_HUMAN	A	77;77;77;52;77;77;77;77;77;77	ENSP00000433757:E77A;ENSP00000413335:E77A;ENSP00000400039:E77A;ENSP00000433916:E52A;ENSP00000431806:E77A;ENSP00000315160:E77A;ENSP00000435308:E77A;ENSP00000376743:E77A;ENSP00000402004:E77A;ENSP00000419652:E77A	ENSP00000315160:E77A	E	+	2	0	TTC12	112699933	0.964000	0.33143	0.004000	0.12327	0.066000	0.16364	2.004000	0.40854	0.577000	0.29470	0.533000	0.62120	GAA		0.323	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		C	113194723	A	C	113194723	3	2	44	1	0	0	0	0	1	0	0	0	16684	246	9	5	240	5	TTC12	11	113194723	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08	55247711	113194723	21811793	71	3228											
FAM55D	54827	broad.mit.edu	37	11	114451052	114451052	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:114451052C>T	ENST00000375478.3	-	5	1081	c.901G>A	c.(901-903)Gtt>Att	p.V301I	NXPE4_ENST00000424261.2_Missense_Mutation_p.V17I	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	301						extracellular vesicular exosome (GO:0070062)											TTCATTGCAACTGTTTCTTCT	0.408																																																0													121	110	113					11																	114451052		1864	4107	5971	SO:0001583	missense	54827			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.901G>A	11.37:g.114451052C>T	ENSP00000364627:p.Val301Ile		Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	8.038	0.763327	0.15914	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.13538	2.58;2.74	4.69	3.78	0.43462	.	1.115920	0.06903	N	0.806357	T	0.12433	0.0302	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.08889	-1.0700	10	0.27082	T	0.32	.	10.6727	0.45768	0.0:0.9035:0.0:0.0965	.	301	Q6UWF7	FA55D_HUMAN	I	17;301	ENSP00000401503:V17I;ENSP00000364627:V301I	ENSP00000364627:V301I	V	-	1	0	FAM55D	113956262	0.000000	0.05858	0.011000	0.14972	0.312000	0.27988	0.842000	0.27627	2.588000	0.87417	0.655000	0.94253	GTT		0.408	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		T	114451052	C	T	114451052	3	4	44	1	0	0	0	0	1	0	0	0	5589	565	20	2	741	2	FAM55D	11	114451052	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	1256329	114451052	20555464	72	3229											
KIRREL3	84623	broad.mit.edu	37	11	126299167	126299167	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:126299167C>T	ENST00000525144.2	-	15	1962	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	KIRREL3_ENST00000416561.2_Silent_p.V38V|KIRREL3_ENST00000529097.2_Silent_p.V559V	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	571					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTTTGGCTGACACAACACCTT	0.468																																																0													93	95	95					11																	126299167		1935	4135	6070	SO:0001819	synonymous_variant	84623			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1713G>A	11.37:g.126299167C>T			Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	CCDS53723.1																																																																																				0.468	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		T	126299167	C	T	126299167	2	4	44	1	0	0	0	0	0	0	0	1	8328	465	17	2		2	KIRREL3	11	126299167	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08	11848115	126299167	8707349	73	3230											
GAPDH	2597	broad.mit.edu	37	12	6646512	6646512	+	Missense_Mutation	SNP	G	G	T	rs77154254		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:6646512G>T	ENST00000229239.5	+	7	1147	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S|GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S|GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S|RP5-940J5.9_ENST00000602946.1_RNA	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	161					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)	p.A161S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						AGCACCCCTGGCCAAGGTCAT	0.577																																																1	Substitution - Missense(1)	lung(1)											59	56	57					12																	6646512		2203	4300	6503	SO:0001583	missense	2597			AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.481G>T	12.37:g.6646512G>T	ENSP00000229239:p.Ala161Ser		E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579859	0.86645	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.62	4.62	0.57501	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	H	0.97940	4.11	0.50632	D	0.99988	P;P;B;B;B	0.41524	0.753;0.753;0.159;0.019;0.008	P;P;B;B;B	0.55161	0.77;0.77;0.239;0.329;0.157	D	0.86197	0.1616	10	0.72032	D	0.01	.	17.6697	0.88213	0.0:0.0:1.0:0.0	.	119;136;161;86;161	E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.;.;.;.;G3P_HUMAN	S	161;161;86;161;161;119	ENSP00000229239:A161S;ENSP00000380065:A86S;ENSP00000380070:A161S;ENSP00000380068:A161S;ENSP00000380067:A119S	ENSP00000229239:A161S	A	+	1	0	GAPDH	6516773	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.652000	0.83633	2.403000	0.81681	0.561000	0.74099	GCC		0.577	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		T	6646512	G	T	6646512	3	4	44	1	0	0	0	0	1	0	0	0	6238	1203	42	4	503	4	GAPDH	12	6646512	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08		6646512	127205383	74	3231											
A2ML1	144568	broad.mit.edu	37	12	8998036	8998036	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:8998036A>T	ENST00000299698.7	+	13	1656		c.e13-1		A2ML1_ENST00000539547.1_Splice_Site|A2ML1_ENST00000540049.1_3'UTR	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTCTTCTTTAGTTAATAGGG	0.428																																																0													74	73	73					12																	8998036		1867	4096	5963	SO:0001630	splice_region_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1477-1A>T	12.37:g.8998036A>T				Splice_Site	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286896	0.40494	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000536789;ENST00000539547;ENST00000545692	.	.	.	4.0	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9493	0.24536	0.804:0.0:0.196:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	A2ML1	8889303	1.000000	0.71417	0.856000	0.33681	0.964000	0.63967	4.210000	0.58500	0.884000	0.36064	0.459000	0.35465	.		0.428	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	Intron	T	8998036	A	T	8998036	5	4	44	1	0	0	0	0	0	0	1	0	5	434	15	5	1525	5	A2ML1	12	8998036	Splice_Site	SNP	A	TCGA-A3-3322-01A-01W-0886-08	2351524	8998036	124853859	75	3232											
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393																																																0													191	185	187					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.110-1A>T	12.37:g.28458580A>T			B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	T	28458580	A	T	28458580	5	4	44	1	0	0	0	0	0	0	1	0	2872	434	15	5	118	5	CCDC91	12	28458580	Splice_Site	SNP	A	TCGA-A3-3322-01A-01W-0886-08	19460544	28458580	105393315	76	3233											
CS	1431	broad.mit.edu	37	12	56667394	56667394	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:56667394C>A	ENST00000351328.3	-	10	1397	c.1207G>T	c.(1207-1209)Gct>Tct	p.A403S	CS_ENST00000542324.2_Missense_Mutation_p.A390S|CS_ENST00000548567.1_Missense_Mutation_p.A337S	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	403					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCACTGTGAGCATCTACATTG	0.453																																																0													119	97	105					12																	56667394		2203	4300	6503	SO:0001583	missense	1431				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1207G>T	12.37:g.56667394C>A	ENSP00000342056:p.Ala403Ser		Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454223	0.84209	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000548746;ENST00000542324	.	.	.	5.69	5.69	0.88448	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	L	0.42686	1.345	0.80722	D	1	P;P;P	0.34546	0.456;0.456;0.456	P;P;P	0.51777	0.535;0.612;0.679	T	0.64253	-0.6451	9	0.31617	T	0.26	-13.4602	18.9789	0.92748	0.0:1.0:0.0:0.0	.	390;358;403	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	S	337;403;76;390	.	ENSP00000342056:A403S	A	-	1	0	CS	54953661	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.098000	0.76974	2.865000	0.98341	0.655000	0.94253	GCT		0.453	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		A	56667394	C	A	56667394	3	1	44	1	0	0	0	0	1	0	0	0	3926	710	25	4	201	4	CS	12	56667394	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	28208814	56667394	77184501	77	3234											
HSP90B1	7184	broad.mit.edu	37	12	104332226	104332226	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:104332226A>G	ENST00000299767.5	+	7	1146	c.964A>G	c.(964-966)Aag>Gag	p.K322E		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	322					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	aaagaaACCAAAGACTAAAAA	0.388																																																0													45	49	47					12																	104332226		2203	4300	6503	SO:0001583	missense	7184			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.964A>G	12.37:g.104332226A>G	ENSP00000299767:p.Lys322Glu		Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763352	0.49574	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.17370	2.28	5.78	5.78	0.91487	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.03695	-1.1012	10	0.59425	D	0.04	.	12.4981	0.55940	1.0:0.0:0.0:0.0	.	322	P14625	ENPL_HUMAN	E	322;72	ENSP00000299767:K322E	ENSP00000299767:K322E	K	+	1	0	HSP90B1	102856356	1.000000	0.71417	0.940000	0.37924	0.022000	0.10575	6.690000	0.74567	2.197000	0.70478	0.533000	0.62120	AAG		0.388	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		G	104332226	A	G	104332226	3	3	44	1	0	0	0	0	1	0	0	0	7405	15	1	3	990	3	HSP90B1	12	104332226	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08	47664832	104332226	29519669	78	3235											
ASCL4	121549	broad.mit.edu	37	12	108169501	108169502	+	Frame_Shift_Ins	INS	-	-	G	rs201513808	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:108169501_108169502insG	ENST00000342331.4	+	1	1340_1341	c.509_510insG	c.(508-513)gaggggfs	p.EG170fs		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	169					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GAGCCCGAGGAGGGGGGCAGCT	0.738																																					GBM(170;776 3695 11650)											0																																										SO:0001589	frameshift_variant	121549			AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"Basic helix-loop-helix proteins"	24311	protein-coding gene	gene with protein product		609155	"achaete-scute complex-like 4 (Drosophila)", "achaete-scute complex homolog 4 (Drosophila)"				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.515dupG	12.37:g.108169507_108169507dupG	ENSP00000345420:p.Glu170fs		Q7RTS2	Frame_Shift_Ins	INS	ENST00000342331.4	37	CCDS31894.2																																																																																				0.738	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		G	108169502	-	G	108169501	7	5	44	1	0	1	1	0	0	0	0	0	1036	304	11	0	511	0	ASCL4	12	108169501	Frame_Shift_Ins	INS	-	TCGA-A3-3322-01A-01W-0886-08	3837275	108169501	25682394	79	3236											
CPB2	1361	broad.mit.edu	37	13	46632338	46632338	+	Missense_Mutation	SNP	A	A	T	rs150895932		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr13:46632338A>T	ENST00000181383.4	-	9	991	c.975T>A	c.(973-975)agT>agA	p.S325R	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	325		Cleavage; by thrombin.			blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTTGCTTTTACTTCGTGTAT	0.328																																																0													163	157	159					13																	46632338		2203	4300	6503	SO:0001583	missense	1361			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.975T>A	13.37:g.46632338A>T	ENSP00000181383:p.Ser325Arg		A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	A	7.261	0.605207	0.14002	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.11821	2.74;2.74	5.86	5.02	0.67125	Peptidase M14, carboxypeptidase A (2);	0.353337	0.40144	N	0.001172	T	0.09512	0.0234	N	0.25485	0.75	0.35046	D	0.760221	B;B	0.26708	0.157;0.149	B;B	0.22880	0.038;0.042	T	0.24119	-1.0169	10	0.27785	T	0.31	.	10.0135	0.42001	0.0723:0.1365:0.7911:0.0	.	288;325	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	R	325;288	ENSP00000181383:S325R;ENSP00000400714:S288R	ENSP00000181383:S325R	S	-	3	2	CPB2	45530339	0.017000	0.18338	0.998000	0.56505	0.183000	0.23260	0.024000	0.13555	1.487000	0.48415	-0.146000	0.13790	AGT		0.328	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		T	46632338	A	T	46632338	3	4	44	1	0	0	0	0	1	0	0	0	3799	388	14	5	308	5	CPB2	13	46632338	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08		46632338	68537540	80	3237											
INTS6	26512	broad.mit.edu	37	13	51939890	51939890	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr13:51939890A>T	ENST00000311234.4	-	18	3134	c.2662T>A	c.(2662-2664)Taa>Aaa	p.*888K	INTS6_ENST00000398119.2_Nonstop_Mutation_p.*875K|INTS6_ENST00000490542.1_Nonstop_Mutation_p.*572K|RP11-24B19.3_ENST00000602636.1_RNA|INTS6_ENST00000425000.1_Nonstop_Mutation_p.*456K|INTS6_ENST00000497989.1_Nonstop_Mutation_p.*710K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	0					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATTTTCTTTTAATTGCTATTA	0.318																																																0													74	74	74					13																	51939890		2199	4288	6487	SO:0001578	stop_lost	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2662T>A	13.37:g.51939890A>T			Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Nonstop_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028748	0.75504	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.745	0.69483	1.0:0.0:0.0:0.0	.	.	.	.	K	888;875;710;456;572	.	.	X	-	1	0	INTS6	50837891	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.409000	0.73289	2.080000	0.62538	0.455000	0.32223	TAA		0.318	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		T	51939890	A	T	51939890	4	4	44	1	0	0	0	0	0	0	0	0	7784	375	13	5	5	5	INTS6	13	51939890	Nonstop_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08	5307552	51939890	63229988	81	3238											
VPS36	51028	broad.mit.edu	37	13	52990211	52990211	+	Silent	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr13:52990211G>T	ENST00000378060.4	-	13	1035	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	336					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTGATGTTAGGGATCCCTTTT	0.368																																																0													106	97	100					13																	52990211		2203	4300	6503	SO:0001819	synonymous_variant	51028			AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"chromosome 13 open reading frame 9", "vacuolar protein sorting 36 homolog (yeast)"	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.1008C>A	13.37:g.52990211G>T			A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Silent	SNP	ENST00000378060.4	37	CCDS9434.1																																																																																				0.368	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			T	52990211	G	T	52990211	2	4	44	1	0	0	0	0	0	0	0	1	17209	1219	43	4		4	VPS36	13	52990211	Silent	SNP	G	TCGA-A3-3322-01A-01W-0886-08	1050321	52990211	62179667	82	3239											
OR4Q3	441669	broad.mit.edu	37	14	20215690	20215690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:20215690A>T	ENST00000331723.1	+	1	104	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTTTTTTACATTGCTATT	0.378																																																0													169	173	172					14																	20215690		2203	4300	6503	SO:0001583	missense	441669			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.104A>T	14.37:g.20215690A>T	ENSP00000330049:p.Tyr35Phe		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958973	0.34565	.	.	ENSG00000182652	ENST00000331723	T	0.04406	3.63	4.32	3.09	0.35607	.	0.000000	0.36591	U	0.002508	T	0.10637	0.0260	M	0.85542	2.76	0.27984	N	0.935927	P	0.46512	0.879	P	0.44518	0.452	T	0.06991	-1.0796	10	0.87932	D	0	.	8.4189	0.32687	0.8259:0.0:0.0:0.1741	.	35	Q8NH05	OR4Q3_HUMAN	F	35	ENSP00000330049:Y35F	ENSP00000330049:Y35F	Y	+	2	0	OR4Q3	19285530	0.740000	0.28207	0.136000	0.22124	0.867000	0.49689	1.606000	0.36826	1.814000	0.52955	0.416000	0.27883	TAC		0.378	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			T	20215690	A	T	20215690	3	4	44	1	0	0	0	0	1	0	0	0	11083	391	14	5	106	5	OR4Q3	14	20215690	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08		20215690	87133850	83	3240											
C14orf102	55051	broad.mit.edu	37	14	90756689	90756689	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:90756689G>A	ENST00000354366.3	-	10	2337	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I	NRDE2_ENST00000357904.3_Missense_Mutation_p.T471I	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	702																	CTGACCCCTGGTCCAGCGAGG	0.502																																																0													72	67	69					14																	90756689		2203	4300	6503	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2105C>T	14.37:g.90756689G>A	ENSP00000346335:p.Thr702Ile		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235907	0.22626	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.32988	1.43;1.43	5.91	1.8	0.24995	.	0.653677	0.16763	N	0.200547	T	0.22205	0.0535	L	0.51422	1.61	0.09310	N	1	B	0.21147	0.052	B	0.17979	0.02	T	0.14035	-1.0487	10	0.29301	T	0.29	-11.8845	3.8662	0.09018	0.0783:0.3402:0.3293:0.2522	.	702	Q9H7Z3	CN102_HUMAN	I	702;471	ENSP00000346335:T702I;ENSP00000350579:T471I	ENSP00000346335:T702I	T	-	2	0	C14orf102	89826442	0.010000	0.17322	0.917000	0.36280	0.852000	0.48524	0.341000	0.19909	0.813000	0.34350	0.655000	0.94253	ACC		0.502	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		A	90756689	G	A	90756689	3	1	44	1	0	0	0	0	1	0	0	0	1737	1261	44	2	1409	2	C14orf102	14	90756689	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	70540999	90756689	16592851	84	3241											
CCDC88C	440193	broad.mit.edu	37	14	91779454	91779454	+	Silent	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:91779454C>A	ENST00000389857.6	-	15	2792	c.2706G>T	c.(2704-2706)gtG>gtT	p.V902V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	902					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCTTGCATGCACGGTGACTT	0.617																																																0													116	114	115					14																	91779454		2124	4246	6370	SO:0001819	synonymous_variant	440193				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2706G>T	14.37:g.91779454C>A			Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	CCDS45151.1																																																																																				0.617	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		A	91779454	C	A	91779454	2	1	44	1	0	0	0	0	0	0	0	1	2867	697	25	4		4	CCDC88C	14	91779454	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08	1022765	91779454	15570086	85	3242											
HHIPL1	84439	broad.mit.edu	37	14	100129224	100129224	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:100129224C>G	ENST00000330710.5	+	6	1612	c.1514C>G	c.(1513-1515)tCc>tGc	p.S505C	HHIPL1_ENST00000357223.2_Missense_Mutation_p.S505C	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	505					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGTCTGATGTCCCTCCAAGAG	0.572																																																0													84	76	79					14																	100129224		2203	4300	6503	SO:0001583	missense	84439			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1514C>G	14.37:g.100129224C>G	ENSP00000330601:p.Ser505Cys		A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473248	0.63737	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.11385	2.78;2.78	4.84	4.84	0.62591	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Glucose/Sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.280386	0.34628	N	0.003801	T	0.37865	0.1019	M	0.84219	2.685	0.38266	D	0.94202	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.917	T	0.47058	-0.9146	10	0.59425	D	0.04	.	17.978	0.89132	0.0:1.0:0.0:0.0	.	505;505	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	C	505	ENSP00000330601:S505C;ENSP00000349757:S505C	ENSP00000330601:S505C	S	+	2	0	HHIPL1	99198977	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.159000	0.58157	2.255000	0.74692	0.561000	0.74099	TCC		0.572	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		G	100129224	C	G	100129224	3	3	44	1	0	0	0	0	1	0	0	0	7095	855	30	4	1536	4	HHIPL1	14	100129224	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	8349770	100129224	7220316	86	3243											
PPP1R13B	23368	broad.mit.edu	37	14	104208221	104208222	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:104208221_104208222insG	ENST00000202556.9	-	11	2009_2010	c.1727_1728insC	c.(1726-1728)tcafs	p.S576fs	PPP1R13B_ENST00000423488.2_5'UTR|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	576	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ATATGGAACTTGAATTCACTGT	0.51																																																0																																										SO:0001589	frameshift_variant	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1728dupC	14.37:g.104208222_104208222dupG	ENSP00000202556:p.Ser576fs		B2RMX5|O94870	Frame_Shift_Ins	INS	ENST00000202556.9	37	CCDS41997.1																																																																																				0.51	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		G	104208222	-	G	104208221	7	5	44	1	0	1	1	0	0	0	0	0	12362	1799	63	0	1572	0	PPP1R13B	14	104208221	Frame_Shift_Ins	INS	-	TCGA-A3-3322-01A-01W-0886-08	4078997	104208221	3141319	87	3244											
KIAA1024	23251	broad.mit.edu	37	15	79749416	79749416	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:79749416C>T	ENST00000305428.3	+	2	1002	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	309						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGCCCTATAACAGCCAGTACC	0.507																																																0													132	141	138					15																	79749416		2196	4293	6489	SO:0001819	synonymous_variant	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.927C>T	15.37:g.79749416C>T			A7MD43	Silent	SNP	ENST00000305428.3	37	CCDS32306.1																																																																																				0.507	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		T	79749416	C	T	79749416	2	4	44	1	0	0	0	0	0	0	0	1	8207	477	17	2		2	KIAA1024	15	79749416	Silent	SNP	C	TCGA-A3-3322-01A-01W-0886-08		79749416	22781976	88	3245											
OR4F15	390649	broad.mit.edu	37	15	102358493	102358493	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:102358493A>T	ENST00000332238.4	+	1	128	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTGTTGTTCTACTTTGCGAGC	0.423																																																0													228	200	209					15																	102358493		2203	4300	6503	SO:0001583	missense	390649			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"GPCR / Class A : Olfactory receptors"	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.104A>T	15.37:g.102358493A>T	ENSP00000333184:p.Tyr35Phe		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	11.58	1.681929	0.29872	.	.	ENSG00000182854	ENST00000332238	T	0.04406	3.63	5.43	5.43	0.79202	.	0.119782	0.38111	N	0.001819	T	0.09202	0.0227	M	0.69248	2.105	0.21355	N	0.999719	B	0.31752	0.338	B	0.36030	0.216	T	0.13737	-1.0498	9	.	.	.	.	13.4735	0.61295	1.0:0.0:0.0:0.0	.	35	Q8NGB8	O4F15_HUMAN	F	35	ENSP00000333184:Y35F	.	Y	+	2	0	OR4F15	100176016	0.978000	0.34361	0.057000	0.19452	0.227000	0.25037	3.633000	0.54295	2.277000	0.76020	0.528000	0.53228	TAC		0.423	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		T	102358493	A	T	102358493	3	4	44	1	0	0	0	0	1	0	0	0	11063	391	14	5	106	5	OR4F15	15	102358493	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08	22609077	102358493	172899	89	3246											
TSC2	7249	broad.mit.edu	37	16	2132493	2132493	+	Missense_Mutation	SNP	G	G	A	rs201135184		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:2132493G>A	ENST00000219476.3	+	32	4501	c.3871G>A	c.(3871-3873)Gtt>Att	p.V1291I	TSC2_ENST00000568454.1_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000353929.4_Missense_Mutation_p.V1248I|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000350773.4_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1291					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCACAGGAGCGTTTCCTGGGC	0.647			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		19886	0.0		0.001	False		,,,				2504	0.0					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													99	88	92					16																	2132493		2198	4298	6496	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3871G>A	16.37:g.2132493G>A	ENSP00000219476:p.Val1291Ile		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.861	-0.462674	0.04508	.	.	ENSG00000103197	ENST00000219476;ENST00000353929	D;D	0.87571	-2.27;-2.18	4.25	-1.49	0.08718	.	0.582077	0.16292	N	0.220854	T	0.63379	0.2506	N	0.01576	-0.805	0.23628	N	0.997252	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.54761	-0.8245	10	0.18710	T	0.47	-1.518	10.0827	0.42399	0.524:0.0:0.476:0.0	.	1247;1291	P49815-3;P49815	.;TSC2_HUMAN	I	1291;1248	ENSP00000219476:V1291I;ENSP00000248099:V1248I	ENSP00000219476:V1291I	V	+	1	0	TSC2	2072494	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	0.977000	0.29475	-0.241000	0.09681	-0.459000	0.05422	GTT		0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		A	2132493	G	A	2132493	3	1	44	1	0	0	0	0	1	0	0	0	16611	1145	40	1	3993	1	TSC2	16	2132493	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08		2132493	88222260	90	3247											
GTF3C1	2975	broad.mit.edu	37	16	27481696	27481696	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:27481696G>A	ENST00000356183.4	-	31	4562	c.4547C>T	c.(4546-4548)cCa>cTa	p.P1516L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1516L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1516					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GATGGTGCTTGGAAATCGCCA	0.498																																																0													108	118	114					16																	27481696		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4547C>T	16.37:g.27481696G>A	ENSP00000348510:p.Pro1516Leu		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073239	0.94000	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27720	1.65	5.57	5.57	0.84162	.	0.057360	0.64402	D	0.000001	T	0.59824	0.2222	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62464	-0.6849	10	0.66056	D	0.02	-20.5513	19.1631	0.93543	0.0:0.0:1.0:0.0	.	1516;1516	Q12789;Q12789-3	TF3C1_HUMAN;.	L	1516;1512	ENSP00000348510:P1516L	ENSP00000348510:P1516L	P	-	2	0	GTF3C1	27389197	1.000000	0.71417	0.913000	0.36048	0.989000	0.77384	8.244000	0.89823	2.618000	0.88619	0.591000	0.81541	CCA		0.498	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		A	27481696	G	A	27481696	3	1	44	1	0	0	0	0	1	0	0	0	6874	1348	47	2	1810	2	GTF3C1	16	27481696	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	25349203	27481696	62873057	91	3248											
STX4	6810	broad.mit.edu	37	16	31045793	31045793	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:31045793G>A	ENST00000313843.3	+	4	558	c.243G>A	c.(241-243)caG>caA	p.Q81Q	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Silent_p.Q79Q	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	81					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GCATGAAGCAGGAGCTGCAGA	0.582																																																0													47	45	46					16																	31045793		2197	4300	6497	SO:0001819	synonymous_variant	6810			AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"syntaxin 4A (placental)"	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.243G>A	16.37:g.31045793G>A			A8MXY0|Q15525|Q6FHE8	Silent	SNP	ENST00000313843.3	37	CCDS10700.1																																																																																				0.582	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		A	31045793	G	A	31045793	2	1	44	1	0	0	0	0	0	0	0	1	15352	991	35	2		2	STX4	16	31045793	Silent	SNP	G	TCGA-A3-3322-01A-01W-0886-08	3564097	31045793	59308960	92	3249											
HEATR3	55027	broad.mit.edu	37	16	50128614	50128614	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:50128614A>T	ENST00000299192.7	+	12	1701		c.e12-1		HEATR3_ENST00000564942.1_Splice_Site|HEATR3_ENST00000285767.4_Splice_Site	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3											cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGTGTTTTAGATTTTGCTA	0.333																																																0													77	79	78					16																	50128614		2198	4299	6497	SO:0001630	splice_region_variant	55027			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1511-1A>T	16.37:g.50128614A>T			A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Splice_Site	SNP	ENST00000299192.7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411080	0.83340	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3662	0.83325	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HEATR3	48686115	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.514000	0.81750	2.274000	0.75844	0.533000	0.62120	.		0.333	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	Intron	T	50128614	A	T	50128614	5	4	44	1	0	0	0	0	0	0	1	0	7031	434	15	5	1555	5	HEATR3	16	50128614	Splice_Site	SNP	A	TCGA-A3-3322-01A-01W-0886-08	19082821	50128614	40226139	93	3250											
NOB1	28987	broad.mit.edu	37	16	69776454	69776454	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:69776454G>A	ENST00000268802.5	-	9	1049	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	340					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GATCCTCGGTGAGATGGGGGT	0.567																																																0													68	71	70					16																	69776454		2198	4300	6498	SO:0001819	synonymous_variant	28987			AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.1020C>T	16.37:g.69776454G>A			Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	ENST00000268802.5	37	CCDS10884.1																																																																																				0.567	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		A	69776454	G	A	69776454	2	1	44	1	0	0	0	0	0	0	0	1	10513	1277	45	2		2	NOB1	16	69776454	Silent	SNP	G	TCGA-A3-3322-01A-01W-0886-08	19647840	69776454	20578299	94	3251											
GAS8	2622	broad.mit.edu	37	16	90099333	90099333	+	Splice_Site	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:90099333G>A	ENST00000268699.4	+	4	617		c.e4+1		GAS8_ENST00000536122.1_Splice_Site|GAS8_ENST00000540721.1_Splice_Site	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCTGCGGCTGGTAGGTGTGGC	0.572																																																0													54	48	50					16																	90099333		2198	4300	6498	SO:0001630	splice_region_variant	2622			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.495+1G>A	16.37:g.90099333G>A			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Splice_Site	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860193	0.71834	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.38	0.94529	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAS8	88626834	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.206000	0.77891	2.689000	0.91719	0.555000	0.69702	.		0.572	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		Intron	A	90099333	G	A	90099333	5	1	44	1	0	0	0	0	0	0	1	0	6253	1275	44	2	510	2	GAS8	16	90099333	Splice_Site	SNP	G	TCGA-A3-3322-01A-01W-0886-08	20322879	90099333	255420	95	3252											
RPAIN	708	broad.mit.edu	37	17	5335874	5335874	+	IGR	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:5335874T>C	ENST00000225698.4	-	0	1169				CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Silent_p.L146L|RPAIN_ENST00000381208.5_Missense_Mutation_p.W168R|RPAIN_ENST00000536255.2_3'UTR|RPAIN_ENST00000381209.3_Missense_Mutation_p.W215R	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	CTGTGATACTTGGGCTGTGAT	0.378																																																0													144	138	140					17																	5335874		2203	4300	6503	SO:0001628	intergenic_variant	84268			X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"C1q globular domain-binding protein", "hyaluronan-binding protein 1", "splicing factor SF2-associated protein"	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021			17.37:g.5335874T>C			Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344545	0.41498	.	.	ENSG00000129197	ENST00000381209;ENST00000381208	T;T	0.43688	0.94;0.94	4.45	3.37	0.38596	.	0.191948	0.46758	N	0.000262	T	0.40145	0.1105	M	0.71581	2.175	0.80722	D	1	B;B	0.27498	0.033;0.18	B;B	0.29176	0.04;0.099	T	0.38156	-0.9674	10	0.62326	D	0.03	.	6.8161	0.23831	0.0:0.1035:0.0:0.8965	.	168;215	E9PDG9;Q86UA6	.;RIP_HUMAN	R	215;168	ENSP00000370606:W215R;ENSP00000370605:W168R	ENSP00000370605:W168R	W	+	1	0	RPAIN	5276598	0.971000	0.33674	0.864000	0.33941	0.817000	0.46193	1.976000	0.40579	1.035000	0.39972	0.533000	0.62120	TGG		0.378	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		C	5335874	T	C	5335874	1	2	44	0	1	0	0	0	0	0	0	0	13546	1812	63	3		3	RPAIN	17	5335874	IGR	SNP	T	TCGA-A3-3322-01A-01W-0886-08		5335874	75859336	96	3253											
PFAS	5198	broad.mit.edu	37	17	8159006	8159006	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:8159006C>A	ENST00000314666.6	+	5	704	c.571C>A	c.(571-573)Ctt>Att	p.L191I	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	191					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAACCAGGAGCTTGGTGAGTA	0.577																																																0													45	44	44					17																	8159006		2203	4300	6503	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.571C>A	17.37:g.8159006C>A	ENSP00000313490:p.Leu191Ile		A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901599	0.72754	.	.	ENSG00000178921	ENST00000314666	T	0.34472	1.36	5.55	3.57	0.40892	.	0.000000	0.64402	D	0.000002	T	0.55561	0.1928	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.57225	-0.7848	10	0.87932	D	0	-8.8838	9.844	0.41015	0.0:0.8341:0.0:0.1659	.	191	O15067	PUR4_HUMAN	I	191	ENSP00000313490:L191I	ENSP00000313490:L191I	L	+	1	0	PFAS	8099731	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.097000	0.57741	0.716000	0.32124	0.462000	0.41574	CTT		0.577	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			A	8159006	C	A	8159006	3	1	44	1	0	0	0	0	1	0	0	0	11756	797	28	4	585	4	PFAS	17	8159006	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	2823132	8159006	73036204	97	3254											
FOXN1	8456	broad.mit.edu	37	17	26864323	26864323	+	Missense_Mutation	SNP	G	G	A	rs528722201	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:26864323G>A	ENST00000226247.2	+	8	1845	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R	FOXN1_ENST00000579795.1_Missense_Mutation_p.G606R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	606					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGGTGGCTCCGGGGCACTGGG	0.682													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16283	0.0		0.0	False		,,,				2504	0.0															0													34	36	35					17																	26864323		2203	4299	6502	SO:0001583	missense	8456			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1816G>A	17.37:g.26864323G>A	ENSP00000226247:p.Gly606Arg		B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310298	0.23821	.	.	ENSG00000109101	ENST00000226247	D	0.92545	-3.06	4.2	3.14	0.36123	.	0.363922	0.25161	N	0.032671	D	0.82995	0.5158	L	0.29908	0.895	0.09310	N	1	P	0.42584	0.784	B	0.35470	0.203	T	0.75252	-0.3383	10	0.35671	T	0.21	.	7.6327	0.28249	0.1486:0.1627:0.6887:0.0	.	606	O15353	FOXN1_HUMAN	R	606	ENSP00000226247:G606R	ENSP00000226247:G606R	G	+	1	0	FOXN1	23888450	0.168000	0.22989	0.889000	0.34880	0.413000	0.31143	2.904000	0.48719	2.128000	0.65567	0.462000	0.41574	GGG		0.682	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			A	26864323	G	A	26864323	3	1	44	1	0	0	0	0	1	0	0	0	6021	1116	39	1	1846	1	FOXN1	17	26864323	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	18705317	26864323	54330887	98	3255											
NEK8	284086	broad.mit.edu	37	17	27068995	27068996	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:27068995_27068996insC	ENST00000268766.6	+	15	2103_2104	c.2069_2070insC	c.(2068-2073)gtccccfs	p.VP690fs	TRAF4_ENST00000262396.6_5'Flank|AC010761.6_ENST00000582536.1_RNA|TRAF4_ENST00000262395.5_5'Flank|AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000444415.3_5'Flank	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	690					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P703fs*10(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GATGAGCCGGTCCCCCCCTGAG	0.584																																					NSCLC(6;19 293 14866 25253 49845)											1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	284086			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.2076dupC	17.37:g.27069002_27069002dupC	ENSP00000268766:p.Val690fs		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Frame_Shift_Ins	INS	ENST00000268766.6	37	CCDS32597.1																																																																																				0.584	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			C	27068996	-	C	27068995	7	5	44	1	0	1	1	0	0	0	0	0	10332	1667	58	0	2127	0	NEK8	17	27068995	Frame_Shift_Ins	INS	-	TCGA-A3-3322-01A-01W-0886-08	204672	27068995	54126215	99	3256											
RHOT1	55288	broad.mit.edu	37	17	30538143	30538143	+	Intron	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:30538143G>A	ENST00000333942.6	+	18	1978				RHOT1_ENST00000545287.2_Missense_Mutation_p.R583Q|RHOT1_ENST00000358365.3_Missense_Mutation_p.R615Q|RHOT1_ENST00000394692.2_Intron|RHOT1_ENST00000583994.1_Intron|RHOT1_ENST00000354266.3_Intron	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1						cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AGCCATGCCCGGTTACGCTGT	0.428																																																0													158	145	149					17																	30538143		2203	4300	6503	SO:0001627	intron_variant	55288			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1739+2815G>A	17.37:g.30538143G>A			A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653214	0.47362	.	.	ENSG00000126858	ENST00000358365;ENST00000354266	T	0.79247	-1.25	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.82669	0.5087	L	0.29908	0.895	0.53688	D	0.999973	D;D	0.71674	0.997;0.998	D;D	0.75484	0.964;0.986	T	0.80400	-0.1398	10	0.33940	T	0.23	-7.1946	19.9823	0.97331	0.0:0.0:1.0:0.0	.	583;615	Q8IXI2-5;Q8IXI2-3	.;.	Q	615;583	ENSP00000351132:R615Q	ENSP00000346215:R583Q	R	+	2	0	RHOT1	27562256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.386000	0.97228	2.788000	0.95919	0.650000	0.86243	CGG		0.428	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		A	30538143	G	A	30538143	1	1	44	0	1	0	0	0	0	0	0	0	13349	1116	39	1		1	RHOT1	17	30538143	Intron	SNP	G	TCGA-A3-3322-01A-01W-0886-08	3469148	30538143	50657067	100	3257											
C17orf75	64149	broad.mit.edu	37	17	30665271	30665271	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:30665271T>G	ENST00000577809.1	-	4	496	c.447A>C	c.(445-447)gaA>gaC	p.E149D	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E149D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	149										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGACCACATATTCTGAAGGGT	0.403																																																0													152	146	148					17																	30665271		1841	4099	5940	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.447A>C	17.37:g.30665271T>G	ENSP00000464275:p.Glu149Asp		Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002085	0.35320	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.68	-0.0434	0.13859	.	0.095110	0.64402	N	0.000001	T	0.38480	0.1042	L	0.45581	1.43	0.34092	D	0.660861	B	0.14805	0.011	B	0.16722	0.016	T	0.26916	-1.0089	9	0.41790	T	0.15	-9.5076	5.2391	0.15462	0.0:0.2974:0.2648:0.4378	.	149	Q9HAS0	NJMU_HUMAN	D	149	.	ENSP00000225805:E149D	E	-	3	2	C17orf75	27689384	0.613000	0.27009	0.999000	0.59377	0.966000	0.64601	-0.311000	0.08124	0.127000	0.18452	-0.366000	0.07423	GAA		0.403	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		G	30665271	T	G	30665271	3	3	44	1	0	0	0	0	1	0	0	0	1882	1490	52	5	771	5	C17orf75	17	30665271	Missense_Mutation	SNP	T	TCGA-A3-3322-01A-01W-0886-08	127128	30665271	50529939	101	3258											
MLX	6945	broad.mit.edu	37	17	40722038	40722038	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:40722038C>A	ENST00000246912.4	+	7	730	c.677C>A	c.(676-678)cCc>cAc	p.P226H	MLX_ENST00000346833.4_Missense_Mutation_p.P142H|MLX_ENST00000435881.2_Missense_Mutation_p.P172H	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	226					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CAGGACAACCCCCATGAAGGG	0.542																																					GBM(121;657 1601 4665 24731 34640)											0													121	103	109					17																	40722038		2203	4300	6503	SO:0001583	missense	6945			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	11645	protein-coding gene	gene with protein product		602976	"transcription factor-like 4", "MAX-like protein X"	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.677C>A	17.37:g.40722038C>A	ENSP00000246912:p.Pro226His		A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245346	0.80024	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	T;T;T	0.80653	-1.06;-1.4;-1.1	5.72	4.75	0.60458	.	0.048609	0.85682	D	0.000000	D	0.87676	0.6237	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;P;D	0.70935	0.971;0.848;0.959	D	0.88131	0.2838	10	0.62326	D	0.03	-10.238	10.7068	0.45960	0.0:0.855:0.0:0.145	.	142;226;172	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	H	142;226;172	ENSP00000320913:P142H;ENSP00000246912:P226H;ENSP00000416627:P172H	ENSP00000246912:P226H	P	+	2	0	MLX	37975564	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.969000	0.63735	1.428000	0.47296	0.561000	0.74099	CCC		0.542	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607		A	40722038	C	A	40722038	3	1	44	1	0	0	0	0	1	0	0	0	9637	623	22	4	703	4	MLX	17	40722038	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	10056767	40722038	40473172	102	3259											
CNTNAP1	8506	broad.mit.edu	37	17	40844591	40844591	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:40844591G>C	ENST00000264638.4	+	17	2822	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	869	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGACGACTTTGAGTTCAATGA	0.587																																																0													158	139	146					17																	40844591		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2605G>C	17.37:g.40844591G>C	ENSP00000264638:p.Glu869Gln			Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711232	0.48517	.	.	ENSG00000108797	ENST00000264638	T	0.77358	-1.09	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.267147	0.32258	N	0.006356	T	0.53254	0.1785	N	0.03608	-0.345	0.31858	N	0.621331	P	0.41450	0.75	B	0.37387	0.248	T	0.62905	-0.6755	10	0.40728	T	0.16	.	9.5053	0.39042	0.0933:0.0:0.9067:0.0	.	869	P78357	CNTP1_HUMAN	Q	869	ENSP00000264638:E869Q	ENSP00000264638:E869Q	E	+	1	0	CNTNAP1	38098117	0.999000	0.42202	0.997000	0.53966	0.965000	0.64279	3.483000	0.53194	2.686000	0.91538	0.561000	0.74099	GAG		0.587	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		C	40844591	G	C	40844591	3	2	44	1	0	0	0	0	1	0	0	0	3648	1291	45	4	2671	4	CNTNAP1	17	40844591	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	122553	40844591	40350619	103	3260											
KIF18B	146909	broad.mit.edu	37	17	43009011	43009011	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:43009011G>A	ENST00000593135.1	-	11	1573	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	KIF18B_ENST00000339151.4_Silent_p.G504G|KIF18B_ENST00000590129.1_Silent_p.G513G|KIF18B_ENST00000438933.2_Silent_p.G504G|KIF18B_ENST00000587309.1_Silent_p.G504G	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	513					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGAGAAGTGGCCCACGACTG	0.572																																																0													95	100	99					17																	43009011		2006	4179	6185	SO:0001819	synonymous_variant	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1476C>T	17.37:g.43009011G>A			A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	37	CCDS45709.2																																																																																				0.572	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		A	43009011	G	A	43009011	2	1	44	1	0	0	0	0	0	0	0	1	8283	1190	42	2		2	KIF18B	17	43009011	Silent	SNP	G	TCGA-A3-3322-01A-01W-0886-08	2164420	43009011	38186199	104	3261											
MRPL10	124995	broad.mit.edu	37	17	45904504	45904504	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:45904504C>T	ENST00000351111.2	-	3	294	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	MRPL10_ENST00000290208.7_Missense_Mutation_p.A107T|MRPL10_ENST00000414011.1_Missense_Mutation_p.A107T	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	97					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TGGCAGACGGCTATCATTCGG	0.522																																																0													115	100	105					17																	45904504		2203	4300	6503	SO:0001583	missense	124995			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"Mitochondrial ribosomal proteins / large subunits"	14055	protein-coding gene	gene with protein product	"39S ribosomal protein L10, mitochondrial"	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.289G>A	17.37:g.45904504C>T	ENSP00000324100:p.Ala97Thr		A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878108	0.91664	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.45668	0.89;0.89;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	L	0.33485	1.01	0.80722	D	1	P;D	0.56521	0.513;0.976	B;P	0.52823	0.369;0.71	T	0.38112	-0.9676	10	0.48119	T	0.1	-5.7186	18.4309	0.90624	0.0:1.0:0.0:0.0	.	97;107	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	T	97;107;107	ENSP00000324100:A97T;ENSP00000290208:A107T;ENSP00000395870:A107T	ENSP00000290208:A107T	A	-	1	0	MRPL10	43259503	1.000000	0.71417	0.771000	0.31576	0.498000	0.33706	7.003000	0.76310	2.657000	0.90304	0.561000	0.74099	GCC		0.522	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		T	45904504	C	T	45904504	3	4	44	1	0	0	0	0	1	0	0	0	9777	797	28	2	508	2	MRPL10	17	45904504	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	2895493	45904504	35290706	105	3262											
HOXB3	3213	broad.mit.edu	37	17	46628327	46628327	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:46628327G>A	ENST00000470495.1	-	2	2112	c.665C>T	c.(664-666)gCc>gTc	p.A222V	HOXB3_ENST00000311626.4_Missense_Mutation_p.A222V|HOXB3_ENST00000498678.1_Missense_Mutation_p.A222V|HOXB3_ENST00000489475.1_Missense_Mutation_p.A149V|HOXB3_ENST00000485909.2_Missense_Mutation_p.A90V|HOXB3_ENST00000476342.1_Missense_Mutation_p.A222V|HOXB3_ENST00000472863.1_Missense_Mutation_p.A149V|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A88V|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.A90V|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	222					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CAGCAGGTTGGCCATCTCTAC	0.607																																																0													101	102	101					17																	46628327		2203	4300	6503	SO:0001583	missense	3213				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.665C>T	17.37:g.46628327G>A	ENSP00000417207:p.Ala222Val		A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599298	0.87055	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89	3.31	3.31	0.37934	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	M	0.93550	3.43	0.80722	D	1	P	0.48016	0.904	P	0.52758	0.708	D	0.99824	1.1049	10	0.87932	D	0	.	15.2207	0.73308	0.0:0.0:1.0:0.0	.	222	P14651	HXB3_HUMAN	V	222;149;222;222;88;90;90;149;222	ENSP00000417207:A222V;ENSP00000419676:A149V;ENSP00000308252:A222V;ENSP00000420595:A222V;ENSP00000449977:A88V;ENSP00000418035:A90V;ENSP00000438747:A90V;ENSP00000418729:A149V;ENSP00000418892:A222V	ENSP00000308252:A222V	A	-	2	0	HOXB3	43983326	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.945000	0.92985	1.880000	0.54463	0.644000	0.83932	GCC		0.607	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			A	46628327	G	A	46628327	3	1	44	1	0	0	0	0	1	0	0	0	7304	1203	42	2	634	2	HOXB3	17	46628327	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	723823	46628327	34566883	106	3263											
HELZ	9931	broad.mit.edu	37	17	65184580	65184580	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:65184580T>C	ENST00000358691.5	-	12	1183	c.1017A>G	c.(1015-1017)caA>caG	p.Q339Q	HELZ_ENST00000580168.1_Silent_p.Q339Q|HELZ_ENST00000580662.1_5'Flank	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	339						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTAATCCATTTTGGGCCATCT	0.383																																																0													280	265	270					17																	65184580		1886	4109	5995	SO:0001819	synonymous_variant	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1017A>G	17.37:g.65184580T>C			I6L9H4	Silent	SNP	ENST00000358691.5	37	CCDS42374.1																																																																																				0.383	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		C	65184580	T	C	65184580	2	2	44	1	0	0	0	0	0	0	0	1	7051	1838	64	3		3	HELZ	17	65184580	Silent	SNP	T	TCGA-A3-3322-01A-01W-0886-08	18556253	65184580	16010630	107	3264											
DLGAP1	9229	broad.mit.edu	37	18	3502638	3502638	+	Silent	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:3502638A>G	ENST00000315677.3	-	12	3172	c.2577T>C	c.(2575-2577)ccT>ccC	p.P859P	DLGAP1_ENST00000584874.1_Silent_p.P859P|DLGAP1_ENST00000400155.1_Silent_p.P565P|DLGAP1_ENST00000400149.3_Silent_p.P549P|DLGAP1_ENST00000539435.1_Silent_p.P567P|DLGAP1_ENST00000581527.1_Silent_p.P859P|DLGAP1_ENST00000534970.1_Silent_p.P543P|DLGAP1_ENST00000515196.2_Silent_p.P859P|DLGAP1_ENST00000400150.3_Silent_p.P575P|DLGAP1_ENST00000400147.2_Silent_p.P557P|DLGAP1_ENST00000581699.1_Silent_p.P565P|DLGAP1_ENST00000400145.2_Silent_p.P557P	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	859					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GATGAGCATTAGGATTCTGCA	0.388																																																0													67	74	71					18																	3502638		2203	4300	6503	SO:0001819	synonymous_variant	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2577T>C	18.37:g.3502638A>G			A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	CCDS11836.1																																																																																				0.388	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			G	3502638	A	G	3502638	2	3	44	1	0	0	0	0	0	0	0	1	4561	407	15	3		3	DLGAP1	18	3502638	Silent	SNP	A	TCGA-A3-3322-01A-01W-0886-08		3502638	74574610	108	3265											
ZNF396	252884	broad.mit.edu	37	18	32949435	32949435	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:32949435T>C	ENST00000589332.1	-	4	883	c.752A>G	c.(751-753)cAg>cGg	p.Q251R	ZNF396_ENST00000306346.1_Missense_Mutation_p.Q251R			Q96N95	ZN396_HUMAN	zinc finger protein 396	251					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ATCACATTTCTGTTGTTTTTT	0.398																																																0													213	208	210					18																	32949435		2203	4300	6503	SO:0001583	missense	252884			AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"-", "Zinc fingers, C2H2-type"	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.752A>G	18.37:g.32949435T>C	ENSP00000466500:p.Gln251Arg		A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37		.	.	.	.	.	.	.	.	.	.	T	7.388	0.630243	0.14257	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.27720	1.65	4.75	3.59	0.41128	.	0.905972	0.09062	U	0.854115	T	0.17916	0.0430	N	0.08118	0	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.72032	D	0.01	.	8.6956	0.34293	0.0:0.0918:0.0:0.9082	.	251	Q96N95-3	.	R	251	ENSP00000302310:Q251R	ENSP00000302310:Q251R	Q	-	2	0	ZNF396	31203433	0.002000	0.14202	0.797000	0.32132	0.150000	0.21749	0.854000	0.27791	0.945000	0.37605	0.528000	0.53228	CAG		0.398	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		C	32949435	T	C	32949435	3	2	44	1	0	0	0	0	1	0	0	0	17887	1580	55	3	257	3	ZNF396	18	32949435	Missense_Mutation	SNP	T	TCGA-A3-3322-01A-01W-0886-08	29446797	32949435	45127813	109	3266											
ZCCHC2	54877	broad.mit.edu	37	18	60241796	60241796	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:60241796A>G	ENST00000269499.5	+	13	2900	c.2482A>G	c.(2482-2484)Aca>Gca	p.T828A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.T507A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	828						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGAGAGCTGCACAGTTAACAT	0.498																																																0													121	124	123					18																	60241796		2107	4236	6343	SO:0001583	missense	54877			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2482A>G	18.37:g.60241796A>G	ENSP00000269499:p.Thr828Ala		B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.325639	0.24080	.	.	ENSG00000141664	ENST00000269499	T	0.25414	1.8	5.69	-4.88	0.03113	.	0.677026	0.14950	N	0.288970	T	0.09949	0.0244	N	0.14661	0.345	0.22541	N	0.999008	B	0.06786	0.001	B	0.04013	0.001	T	0.36866	-0.9730	10	0.13108	T	0.6	-0.944	7.7811	0.29066	0.334:0.4214:0.2445:0.0	.	828	Q9C0B9	ZCHC2_HUMAN	A	828	ENSP00000269499:T828A	ENSP00000269499:T828A	T	+	1	0	ZCCHC2	58392776	0.289000	0.24334	0.222000	0.23844	0.984000	0.73092	0.186000	0.16978	-0.420000	0.07427	0.533000	0.62120	ACA		0.498	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		G	60241796	A	G	60241796	3	3	44	1	0	0	0	0	1	0	0	0	17592	159	6	3	2532	3	ZCCHC2	18	60241796	Missense_Mutation	SNP	A	TCGA-A3-3322-01A-01W-0886-08	27292361	60241796	17835452	110	3267											
CDH19	28513	broad.mit.edu	37	18	64235860	64235860	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:64235860delT	ENST00000540086.1	-	3	529	c.283delA	c.(283-285)agafs	p.R95fs	CDH19_ENST00000262150.2_Frame_Shift_Del_p.R95fs	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	196	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCACCTGTTCTTTCATCAATG	0.418																																																0													113	110	111					18																	64235860		2203	4299	6502	SO:0001589	frameshift_variant	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.283delA	18.37:g.64235860delT	ENSP00000439593:p.Arg95fs		O15098	Frame_Shift_Del	DEL	ENST00000540086.1	37	CCDS59325.1																																																																																				0.418	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		-	64235860	T	-	64235860	7	5	44	1	0	1	0	1	0	0	0	0	3106	1617	56	0	2075	0	CDH19	18	64235860	Frame_Shift_Del	DEL	T	TCGA-A3-3322-01A-01W-0886-08	3994064	64235860	13841388	111	3268											
ZNF556	80032	broad.mit.edu	37	19	2873557	2873557	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:2873557C>T	ENST00000307635.2	+	2	154	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF556_ENST00000586426.1_Missense_Mutation_p.P23S|AC006130.1_ENST00000579582.1_RNA	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCTGAATCCTGCTCAGAG	0.463																																																0													193	172	179					19																	2873557		2203	4300	6503	SO:0001583	missense	80032			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.67C>T	19.37:g.2873557C>T	ENSP00000302603:p.Pro23Ser		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	C	0.206	-1.040726	0.02013	.	.	ENSG00000172000	ENST00000307635	T	0.02280	4.36	2.55	-1.85	0.07784	Krueppel-associated box (4);	.	.	.	.	T	0.02970	0.0088	N	0.20574	0.59	0.09310	N	1	P	0.52316	0.952	P	0.55260	0.772	T	0.45234	-0.9275	9	0.35671	T	0.21	.	7.0224	0.24922	0.1843:0.2682:0.5475:0.0	.	23	Q9HAH1	ZN556_HUMAN	S	23	ENSP00000302603:P23S	ENSP00000302603:P23S	P	+	1	0	ZNF556	2824557	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.528000	0.02225	-0.653000	0.05401	0.407000	0.27541	CCT		0.463	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		T	2873557	C	T	2873557	3	4	44	1	0	0	0	0	1	0	0	0	17992	855	30	2	73	2	ZNF556	19	2873557	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08		2873557	56255426	112	3269											
GIPC3	126326	broad.mit.edu	37	19	3589526	3589527	+	Frame_Shift_Ins	INS	-	-	G	rs202075236	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:3589526_3589527insG	ENST00000322315.5	+	4	723_724	c.678_679insG	c.(679-681)gggfs	p.G227fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	227										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCGTTCTGGGGGGGCTGC	0.609																																																0																																										SO:0001589	frameshift_variant	126326			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.685dupG	19.37:g.3589533_3589533dupG	ENSP00000319254:p.Gly227fs		O75227	Frame_Shift_Ins	INS	ENST00000322315.5	37	CCDS32871.1																																																																																				0.609	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		G	3589527	-	G	3589526	7	5	44	1	0	1	1	0	0	0	0	0	6396	1567	55	0	692	0	GIPC3	19	3589526	Frame_Shift_Ins	INS	-	TCGA-A3-3322-01A-01W-0886-08	715969	3589526	55539457	113	3270											
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																																0																																										SO:0001589	frameshift_variant	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		G	10291084	-	G	10291083	7	5	44	1	0	1	1	0	0	0	0	0	4677	1821	63	0	4662	0	DNMT1	19	10291083	Frame_Shift_Ins	INS	-	TCGA-A3-3322-01A-01W-0886-08	6701557	10291083	48837900	114	3271											
SMARCA4	6597	broad.mit.edu	37	19	11098575	11098575	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:11098575G>C	ENST00000429416.3	+	7	1374	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	SMARCA4_ENST00000541122.2_Missense_Mutation_p.E365Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E365Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E365Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E365Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	365					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGACCCTGTGGAGATCCTGCA	0.692			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											21	27	25					19																	11098575		2164	4179	6343	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1093G>C	19.37:g.11098575G>C	ENSP00000395654:p.Glu365Gln		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517790	0.44763	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.16;-2.17;-2.17	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	N	0.26092	0.79	0.51233	D	0.999913	P;P;P;P;P;P;P	0.42827	0.791;0.791;0.791;0.683;0.791;0.791;0.791	B;B;B;B;B;B;B	0.42916	0.373;0.373;0.373;0.402;0.299;0.373;0.373	T	0.81353	-0.0971	10	0.31617	T	0.26	-42.9749	16.1384	0.81506	0.0:0.0:1.0:0.0	.	365;365;365;365;365;365;365	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	Q	365	ENSP00000395654:E365Q;ENSP00000350720:E365Q;ENSP00000343896:E365Q;ENSP00000445036:E365Q;ENSP00000392837:E365Q;ENSP00000397783:E365Q;ENSP00000414727:E365Q	ENSP00000343896:E365Q	E	+	1	0	SMARCA4	10959575	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.417000	0.97391	2.335000	0.79485	0.655000	0.94253	GAG		0.692	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		C	11098575	G	C	11098575	3	2	44	1	0	0	0	0	1	0	0	0	14776	1175	41	4	1111	4	SMARCA4	19	11098575	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	807492	11098575	48030408	115	3272											
CCDC151	115948	broad.mit.edu	37	19	11537536	11537536	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:11537536G>A	ENST00000356392.4	-	5	768	c.681C>T	c.(679-681)acC>acT	p.T227T	CCDC151_ENST00000586836.1_Silent_p.T36T|CCDC151_ENST00000545100.1_Silent_p.T173T|CCDC151_ENST00000591179.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	227										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GGTACACGCTGGTAATGTGCT	0.622																																																0													66	68	68					19																	11537536		2092	4227	6319	SO:0001819	synonymous_variant	115948				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.681C>T	19.37:g.11537536G>A			B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	CCDS42501.1																																																																																				0.622	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		A	11537536	G	A	11537536	2	1	44	1	0	0	0	0	0	0	0	1	2788	1335	47	2		2	CCDC151	19	11537536	Silent	SNP	G	TCGA-A3-3322-01A-01W-0886-08	438961	11537536	47591447	116	3273											
PLA2G4C	8605	broad.mit.edu	37	19	48571078	48571078	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:48571078C>T	ENST00000599921.1	-	13	1429	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G358R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G368R|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G358R|CTD-2265M8.2_ENST00000596552.1_RNA			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	358	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGAGTGGTCCCCCATTCCCAC	0.532																																																0													334	328	330					19																	48571078		2203	4300	6503	SO:0001583	missense	8605			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1072G>A	19.37:g.48571078C>T	ENSP00000469473:p.Gly358Arg		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026390	0.54683	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.05081	3.5;3.5	2.78	2.78	0.32641	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.202214	0.29486	U	0.012014	T	0.19725	0.0474	M	0.69823	2.125	0.34046	D	0.655589	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.16158	-1.0412	10	0.48119	T	0.1	-12.9655	9.3009	0.37845	0.0:1.0:0.0:0.0	.	368;358	B4DI40;Q9UP65	.;PA24C_HUMAN	R	358	ENSP00000346228:G358R;ENSP00000400036:G358R	ENSP00000346228:G358R	G	-	1	0	PLA2G4C	53262890	1.000000	0.71417	0.675000	0.29917	0.134000	0.20937	2.909000	0.48758	1.271000	0.44313	0.205000	0.17691	GGG		0.532	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			T	48571078	C	T	48571078	3	4	44	1	0	0	0	0	1	0	0	0	12005	623	22	2	577	2	PLA2G4C	19	48571078	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	37033542	48571078	10557905	117	3274											
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	5	0.000998403	0.0	0.0	5008	,	,		18990	0.003		0.001	False		,,,				2504	0.001															0																																										SO:0001589	frameshift_variant	9476			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.998dupG	19.37:g.50862312_50862312dupC	ENSP00000253719:p.Val333fs		Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	CCDS12794.1																																																																																				0.53	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		C	50862306	-	C	50862305	7	5	44	1	0	1	1	0	0	0	0	0	10168	275	10	0	272	0	NAPSA	19	50862305	Frame_Shift_Ins	INS	-	TCGA-A3-3322-01A-01W-0886-08	2291227	50862305	8266678	118	3275											
ZNF615	284370	broad.mit.edu	37	19	52496685	52496685	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:52496685G>A	ENST00000602063.1	-	6	1993	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	ZNF615_ENST00000594083.1_Silent_p.G559G|ZNF615_ENST00000598071.1_Silent_p.G559G|ZNF615_ENST00000376716.5_Silent_p.G548G|ZNF615_ENST00000391795.3_Silent_p.G553G			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTCAGTGAAGCCTTTTCCAC	0.448																																																0													118	103	108					19																	52496685		2203	4300	6503	SO:0001819	synonymous_variant	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1644C>T	19.37:g.52496685G>A			B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	CCDS12846.1																																																																																				0.448	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		A	52496685	G	A	52496685	2	1	44	1	0	0	0	0	0	0	0	1	18045	958	34	2		2	ZNF615	19	52496685	Silent	SNP	G	TCGA-A3-3322-01A-01W-0886-08	1634380	52496685	6632298	119	3276											
ZNF616	90317	broad.mit.edu	37	19	52618981	52618981	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:52618981C>T	ENST00000600228.1	-	4	1697	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGCTGCAAGTCGTGAATGTAT	0.418																																																0													112	102	106					19																	52618981		2203	4300	6503	SO:0001583	missense	90317			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1436G>A	19.37:g.52618981C>T	ENSP00000471000:p.Arg479Gln		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	7.547	0.661978	0.14645	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08891	0.0220	N	0.02357	-0.585	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.19516	-1.0303	8	0.15066	T	0.55	.	2.6705	0.05066	0.3388:0.2533:0.0:0.4078	.	479	Q08AN1	ZN616_HUMAN	Q	479	.	ENSP00000328722:R479Q	R	-	2	0	ZNF616	57310793	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	-3.457000	0.00464	-2.120000	0.00826	0.305000	0.20034	CGA		0.418	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		T	52618981	C	T	52618981	3	4	44	1	0	0	0	0	1	0	0	0	18046	884	31	1	913	1	ZNF616	19	52618981	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	122296	52618981	6510002	120	3277											
ZNF749	388567	broad.mit.edu	37	19	57956390	57956390	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:57956390G>A	ENST00000334181.4	+	3	2124	c.1874G>A	c.(1873-1875)tGt>tAt	p.C625Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGATATCGCTGTACACTGAGT	0.353																																																0													62	65	64					19																	57956390		2203	4300	6503	SO:0001583	missense	388567			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1874G>A	19.37:g.57956390G>A	ENSP00000333980:p.Cys625Tyr			Missense_Mutation	SNP	ENST00000334181.4	37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787883	0.31593	.	.	ENSG00000186230	ENST00000334181	T	0.14391	2.51	2.36	-0.0525	0.13822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	N	0.02286	-0.61	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.37572	-0.9700	9	0.48119	T	0.1	.	5.7738	0.18267	0.0:0.6603:0.2097:0.13	.	625	O43361	ZN749_HUMAN	Y	625	ENSP00000333980:C625Y	ENSP00000333980:C625Y	C	+	2	0	ZNF749	62648202	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-2.524000	0.00948	-0.072000	0.12864	0.313000	0.20887	TGT		0.353	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		A	57956390	G	A	57956390	3	1	44	1	0	0	0	0	1	0	0	0	18136	1377	48	2	1884	2	ZNF749	19	57956390	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	5337409	57956390	1172593	121	3278											
ZNF551	90233	broad.mit.edu	37	19	58198816	58198816	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:58198816T>C	ENST00000282296.5	+	3	1358	c.1173T>C	c.(1171-1173)taT>taC	p.Y391Y	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Silent_p.Y375Y			Q7Z340	ZN551_HUMAN	zinc finger protein 551	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGGCCTTATCAGTGCTGTG	0.448																																																0													86	89	88					19																	58198816		2203	4300	6503	SO:0001819	synonymous_variant	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1173T>C	19.37:g.58198816T>C			B4DU22|P17034|Q8N246|Q9BRY1	Silent	SNP	ENST00000282296.5	37	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478146	0.44044	.	.	ENSG00000228006	ENST00000541705	.	.	.	2.75	2.75	0.32379	.	0.309864	0.20416	U	0.092765	T	0.16727	0.0402	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.20009	-1.0288	6	0.10636	T	0.68	.	5.6207	0.17455	0.0:0.1346:0.0:0.8653	.	.	.	.	V	197	.	ENSP00000437781:I197V	I	-	1	0	AC004017.1	62890628	0.000000	0.05858	0.028000	0.17463	0.201000	0.24016	-0.911000	0.04050	1.262000	0.44165	0.459000	0.35465	ATA		0.448	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		C	58198816	T	C	58198816	2	2	44	1	0	0	0	0	0	0	0	1	17988	1442	50	3		3	ZNF551	19	58198816	Silent	SNP	T	TCGA-A3-3322-01A-01W-0886-08	242426	58198816	930167	122	3279											
ZNF256	10172	broad.mit.edu	37	19	58452560	58452560	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:58452560C>A	ENST00000282308.3	-	3	1812	c.1616G>T	c.(1615-1617)aGa>aTa	p.R539I	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	539					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGTGTGACTTCTCCTATGTCT	0.463																																					NSCLC(55;1313 1552 8040 11996)											0													68	59	62					19																	58452560		2203	4300	6503	SO:0001583	missense	10172			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"Zinc fingers, C2H2-type", "-"	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1616G>T	19.37:g.58452560C>A	ENSP00000282308:p.Arg539Ile		B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	17.09	3.299720	0.60195	.	.	ENSG00000152454	ENST00000282308	T	0.24908	1.83	2.84	0.461	0.16689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46132	0.1377	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.22243	-1.0222	9	0.59425	D	0.04	.	6.2802	0.21003	0.0:0.6942:0.189:0.1168	.	539	Q9Y2P7	ZN256_HUMAN	I	539	ENSP00000282308:R539I	ENSP00000282308:R539I	R	-	2	0	ZNF256	63144372	0.000000	0.05858	0.001000	0.08648	0.737000	0.42083	-0.128000	0.10531	0.056000	0.16144	0.467000	0.42956	AGA		0.463	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			A	58452560	C	A	58452560	3	1	44	1	0	0	0	0	1	0	0	0	17804	913	32	4	271	4	ZNF256	19	58452560	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	253744	58452560	676423	123	3280											
PCNT	5116	broad.mit.edu	37	21	47769001	47769001	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr21:47769001C>A	ENST00000359568.5	+	7	1215	c.1108C>A	c.(1108-1110)Caa>Aaa	p.Q370K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	370	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCAAAGCATCAATCAGAAAT	0.343																																																0													111	122	118					21																	47769001		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1108C>A	21.37:g.47769001C>A	ENSP00000352572:p.Gln370Lys		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	3.970	-0.008617	0.07727	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.27256	1.68	5.79	5.79	0.91817	.	0.293184	0.18621	N	0.135848	T	0.15305	0.0369	N	0.17082	0.46	0.22156	N	0.999321	P;P	0.41673	0.759;0.647	B;B	0.38755	0.281;0.146	T	0.13548	-1.0505	10	0.08837	T	0.75	.	13.8757	0.63651	0.1517:0.8483:0.0:0.0	.	252;370	O95613-2;O95613	.;PCNT_HUMAN	K	370;357	ENSP00000352572:Q370K	ENSP00000338675:Q357K	Q	+	1	0	PCNT	46593429	0.854000	0.29725	0.493000	0.27502	0.129000	0.20672	1.638000	0.37165	2.746000	0.94184	0.638000	0.83543	CAA		0.343	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		A	47769001	C	A	47769001	3	1	44	1	0	0	0	0	1	0	0	0	11592	827	29	4	1134	4	PCNT	21	47769001	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08		47769001	360894	124	3281											
THOC5	8563	broad.mit.edu	37	22	29924416	29924416	+	Splice_Site	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:29924416G>A	ENST00000490103.1	-	10	1087	c.965C>T	c.(964-966)aCg>aTg	p.T322M	THOC5_ENST00000397873.2_Splice_Site_p.T322M|THOC5_ENST00000397871.1_Splice_Site_p.T322M|THOC5_ENST00000397872.1_Splice_Site_p.T322M|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	322					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTCTCACCGTAGTCTGCTC	0.567																																																0													150	132	138					22																	29924416		2203	4300	6503	SO:0001630	splice_region_variant	8563			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.966+1C>T	22.37:g.29924416G>A			O60839|Q9UPZ5	Splice_Site	SNP	ENST00000490103.1	37	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655702	0.88056	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.40590	-0.9555	10	0.46703	T	0.11	-11.5754	18.5692	0.91129	0.0:0.0:1.0:0.0	.	322	Q13769	THOC5_HUMAN	M	322	ENSP00000420306:T322M;ENSP00000380970:T322M;ENSP00000380969:T322M;ENSP00000380971:T322M	ENSP00000380969:T322M	T	-	2	0	THOC5	28254416	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.080000	0.89510	2.622000	0.88805	0.563000	0.77884	ACG		0.567	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Missense_Mutation	A	29924416	G	A	29924416	5	1	44	1	0	0	0	0	0	0	1	0	15873	1159	40	1	1130	1	THOC5	22	29924416	Splice_Site	SNP	G	TCGA-A3-3322-01A-01W-0886-08		29924416	21380150	125	3282											
MKL1	57591	broad.mit.edu	37	22	40820338	40820338	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:40820338C>T	ENST00000355630.3	-	8	939	c.349G>A	c.(349-351)Gag>Aag	p.E117K	MKL1_ENST00000402042.1_Missense_Mutation_p.E117K|MKL1_ENST00000396617.3_Missense_Mutation_p.E117K|MKL1_ENST00000407029.1_Missense_Mutation_p.E117K	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	117	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGCTGTCCTCATCGAAGGAA	0.587			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													90	74	80					22																	40820338		2203	4300	6503	SO:0001583	missense	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.349G>A	22.37:g.40820338C>T	ENSP00000347847:p.Glu117Lys		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	37	6.267213	0.97426	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.76727	2.345	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.73380	0.955;0.98;0.98	D	0.97521	1.0073	10	0.66056	D	0.02	-37.932	20.0246	0.97519	0.0:1.0:0.0:0.0	.	117;117;117	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	K	117	ENSP00000347847:E117K;ENSP00000379861:E117K;ENSP00000385584:E117K;ENSP00000385835:E117K	ENSP00000347847:E117K	E	-	1	0	MKL1	39150284	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.813000	0.86123	2.750000	0.94351	0.561000	0.74099	GAG		0.587	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		T	40820338	C	T	40820338	3	4	44	1	0	0	0	0	1	0	0	0	9603	835	29	2	2478	2	MKL1	22	40820338	Missense_Mutation	SNP	C	TCGA-A3-3322-01A-01W-0886-08	10895922	40820338	10484228	126	3283											
TCF20	6942	broad.mit.edu	37	22	42606197	42606197	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:42606197G>A	ENST00000359486.3	-	1	5251	c.5115C>T	c.(5113-5115)tgC>tgT	p.C1705C	TCF20_ENST00000335626.4_Silent_p.C1705C|TCF20_ENST00000404876.1_Silent_p.C6C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1705					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CACACAGACAGCAAACCAGGT	0.552																																																0													68	68	68					22																	42606197		2203	4300	6503	SO:0001819	synonymous_variant	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5115C>T	22.37:g.42606197G>A			A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	CCDS14033.1																																																																																				0.552	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		A	42606197	G	A	42606197	2	1	44	1	0	0	0	0	0	0	0	1	15695	963	34	2		2	TCF20	22	42606197	Silent	SNP	G	TCGA-A3-3322-01A-01W-0886-08	1785859	42606197	8698369	127	3284											
CERK	64781	broad.mit.edu	37	22	47116101	47116101	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:47116101G>A	ENST00000216264.8	-	3	373	c.261C>T	c.(259-261)caC>caT	p.H87H	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	87	Required for binding to sulfatide and phosphoinositides.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTTTACACAGTGAACTGCAC	0.522																																																0													70	61	64					22																	47116101		2203	4300	6503	SO:0001819	synonymous_variant	64781			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.261C>T	22.37:g.47116101G>A			A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	ENST00000216264.8	37	CCDS14077.1																																																																																				0.522	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		A	47116101	G	A	47116101	2	1	44	1	0	0	0	0	0	0	0	1	3269	1020	36	2		2	CERK	22	47116101	Silent	SNP	G	TCGA-A3-3322-01A-01W-0886-08	4509904	47116101	4188465	128	3285											
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron|RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053															2	Deletion - In frame(2)	prostate(2)																																								SO:0001651	inframe_deletion	8406			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del	875	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		-	38079978	GCA	-	38079976	7	5	44	1	0	1	0	1	0	0	0	0	15169	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-A3-3322-01A-01W-0886-08		38079976	117190584	129	3286											
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																		Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0																																										SO:0001589	frameshift_variant	7030			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		C	48887952	-	C	48887951	7	5	44	1	0	1	1	0	0	0	0	0	15805	1654	58	0	285	0	TFE3	23	48887951	Frame_Shift_Ins	INS	-	TCGA-A3-3322-01A-01W-0886-08	10807975	48887951	106382609	130	3287											
NAP1L2	4674	broad.mit.edu	37	X	72433897	72433897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:72433897G>T	ENST00000373517.3	-	1	787	c.432C>A	c.(430-432)taC>taA	p.Y144*	NAP1L2_ENST00000536638.1_Nonsense_Mutation_p.Y2*	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	144					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTAAGGGTTGGTACATTTCAG	0.383																																																0													165	157	160					X																	72433897		2203	4300	6503	SO:0001587	stop_gained	4674			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.432C>A	X.37:g.72433897G>T	ENSP00000362616:p.Tyr144*		B2RE61|B4E161|Q8TAN6	Nonsense_Mutation	SNP	ENST00000373517.3	37	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	35	5.460609	0.96240	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	.	.	.	3.31	0.468	0.16732	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3825	6.2296	0.20728	0.7494:0.0:0.2506:0.0	.	.	.	.	X	144;2	.	ENSP00000362616:Y144X	Y	-	3	2	NAP1L2	72350622	1.000000	0.71417	0.997000	0.53966	0.710000	0.40934	1.341000	0.33907	0.038000	0.15604	-0.354000	0.07668	TAC		0.383	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		T	72433897	G	T	72433897	4	4	44	1	0	0	0	0	0	1	0	0	10159	1256	44	4	954	4	NAP1L2	23	72433897	Nonsense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	23545946	72433897	82836663	131	3288											
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.Q290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535																																																0																																										SO:0001589	frameshift_variant	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.923dupC	X.37:g.135314200_135314200dupG	ENSP00000318086:p.Gln308fs		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Ins	INS	ENST00000316077.9	37	CCDS44004.1																																																																																				0.535	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			G	135314194	-	G	135314193	7	5	44	1	0	1	1	0	0	0	0	0	9271	1580	55	0	1751	0	MAP7D3	23	135314193	Frame_Shift_Ins	INS	-	TCGA-A3-3322-01A-01W-0886-08	62880296	135314193	19956367	132	3289											
TMEM187	8269	broad.mit.edu	37	X	153247610	153247610	+	Missense_Mutation	SNP	G	G	T	rs139864308	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:153247610G>T	ENST00000369982.4	+	2	844	c.97G>T	c.(97-99)Gtg>Ttg	p.V33L	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	33						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGTTTCCGTGCAAGTGGG	0.637													G||||G|||	1|1	0.000264901|0.000264901	0.0|0.0	0.0014|0.0014	3775|3775	,|,	,|,		13383|13383	0.0|0.0		0.0|0.0	False|False		,,,|,,,				2504|2504	0.0|0.0															0													60	61	61					X																	153247610		2203	4300	6503	SO:0001583	missense	8269			X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"chromosome X open reading frame 12"	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.97G>T	X.37:g.153247610G>T	ENSP00000358999:p.Val33Leu		B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	CCDS14739.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.80	2.346349	0.41599	.	.	ENSG00000177854	ENST00000369982;ENST00000425274;ENST00000431598	T;T	0.32272	1.46;1.46	4.27	-0.957	0.10350	.	0.962934	0.08356	U	0.958427	T	0.32041	0.0816	M	0.76002	2.32	0.09310	N	1	P	0.37141	0.584	B	0.34180	0.177	T	0.31558	-0.9939	10	0.56958	D	0.05	.	9.3406	0.38079	0.7024:0.0:0.2976:0.0	.	33	Q14656	TM187_HUMAN	L	33	ENSP00000358999:V33L;ENSP00000390108:V33L	ENSP00000358999:V33L	V	+	1	0	TMEM187	152900804	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.290000	0.18975	-0.129000	0.11620	0.436000	0.28706	GTG		0.637	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		T	153247610	G	T	153247610	3	4	44	1	0	0	0	0	1	0	0	0	16114	1145	40	4	99	4	TMEM187	23	153247610	Missense_Mutation	SNP	G	TCGA-A3-3322-01A-01W-0886-08	17933417	153247610	2022950	133	3290											
DNAJB4	11080	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78481792	78481792	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr1:78481792G>C	ENST00000370763.5	+	3	1132	c.875G>C	c.(874-876)aGa>aCa	p.R292T	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	292					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGAGGAGAAGAATTATTGGA	0.393																																																0													105	104	105					1																	78481792		2203	4300	6503	SO:0001583	missense	11080			U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"Heat shock proteins / DNAJ (HSP40)"	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.875G>C	1.37:g.78481792G>C	ENSP00000359799:p.Arg292Thr		B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	CCDS684.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500603	0.64298	.	.	ENSG00000162616	ENST00000370763	T	0.45276	0.9	5.96	5.96	0.96718	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.050094	0.85682	D	0.000000	T	0.32071	0.0817	L	0.55103	1.725	0.80722	D	1	B	0.31859	0.343	B	0.37833	0.259	T	0.13308	-1.0514	10	0.14252	T	0.57	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	292	Q9UDY4	DNJB4_HUMAN	T	292	ENSP00000359799:R292T	ENSP00000359799:R292T	R	+	2	0	DNAJB4	78254380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.316000	0.43761	2.832000	0.97577	0.655000	0.94253	AGA		0.393	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			C	78481792	G	C	78481792	3	2	45	1	0	0	0	0	1	0	0	0	4624	942	33	4	885	4	DNAJB4	1	78481792	Missense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08		78481792	170768829	1	3291											
GBP1	2633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	89523725	89523725	+	Missense_Mutation	SNP	C	C	T	rs374475528		TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr1:89523725C>T	ENST00000370473.4	-	6	1043	c.824G>A	c.(823-825)aGt>aAt	p.S275N	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	275	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTTGGAATTACTAAAGATGTA	0.468																																																0													131	138	136					1																	89523725		2203	4300	6503	SO:0001583	missense	2633			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.824G>A	1.37:g.89523725C>T	ENSP00000359504:p.Ser275Asn		D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	8.534	0.871721	0.17322	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.62232	0.04	4.48	-0.425	0.12317	Guanylate-binding protein, N-terminal (1);	0.926429	0.09422	N	0.804270	T	0.24967	0.0606	L	0.39326	1.205	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.19582	-1.0301	10	0.26408	T	0.33	.	4.7021	0.12832	0.0:0.4725:0.1656:0.3619	.	275	P32455	GBP1_HUMAN	N	275;238	ENSP00000359504:S275N	ENSP00000359504:S275N	S	-	2	0	GBP1	89296313	0.000000	0.05858	0.016000	0.15963	0.177000	0.22998	-0.330000	0.07925	0.022000	0.15160	-0.802000	0.03209	AGT		0.468	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		T	89523725	C	T	89523725	3	4	45	1	0	0	0	0	1	0	0	0	6275	565	20	2	978	2	GBP1	1	89523725	Missense_Mutation	SNP	C	TCGA-A3-3323-01A-01D-0966-08	11041933	89523725	159726896	2	3292											
OLFML3	56944	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	114523687	114523687	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr1:114523687G>A	ENST00000320334.4	+	3	591	c.517G>A	c.(517-519)Gat>Aat	p.D173N	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_Missense_Mutation_p.D153N|OLFML3_ENST00000393300.2_Missense_Mutation_p.D153N	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	173	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTACGTGTTAGATGGGACACA	0.542																																																0													65	59	61					1																	114523687		2203	4300	6503	SO:0001583	missense	56944			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.517G>A	1.37:g.114523687G>A	ENSP00000322273:p.Asp173Asn		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	CCDS870.1	.	.	.	.	.	.	.	.	.	.	G	8.961	0.970500	0.18659	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.88818	-2.43;-2.43;-2.43	5.63	4.71	0.59529	Olfactomedin-like (3);	0.090652	0.85682	D	0.000000	T	0.68577	0.3016	N	0.11789	0.175	0.49915	D	0.999832	B;B	0.22414	0.069;0.001	B;B	0.20955	0.032;0.001	T	0.65755	-0.6091	10	0.23302	T	0.38	.	13.6267	0.62168	0.0751:0.0:0.9248:0.0	.	153;173	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	N	153;173;153	ENSP00000358564:D153N;ENSP00000322273:D173N;ENSP00000376977:D153N	ENSP00000322273:D173N	D	+	1	0	OLFML3	114325210	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	5.235000	0.65348	2.651000	0.90000	0.655000	0.94253	GAT		0.542	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		A	114523687	G	A	114523687	3	1	45	1	0	0	0	0	1	0	0	0	10861	942	33	2	527	2	OLFML3	1	114523687	Missense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08	24999962	114523687	134726934	3	3293											
PTPRC	5788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	198687389	198687389	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr1:198687389C>A	ENST00000367376.2	+	14	1782	c.1611C>A	c.(1609-1611)ttC>ttA	p.F537L	PTPRC_ENST00000594404.1_Missense_Mutation_p.F376L|PTPRC_ENST00000352140.3_Missense_Mutation_p.F489L|PTPRC_ENST00000348564.6_Missense_Mutation_p.F378L|PTPRC_ENST00000442510.2_Missense_Mutation_p.F539L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	537	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATTGCGATTTCCGTGTAAAAG	0.383																																																0													67	64	65					1																	198687389		2203	4300	6503	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1611C>A	1.37:g.198687389C>A	ENSP00000356346:p.Phe537Leu		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	16.99	3.274124	0.59649	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.56275	0.47	4.52	-2.6	0.06190	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000103	T	0.68146	0.2969	M	0.85197	2.74	0.18873	N	0.999984	D;D;D;D;D	0.89917	0.972;0.995;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.924;0.974;0.995;0.995;0.995	T	0.61667	-0.7016	10	0.62326	D	0.03	.	9.5819	0.39493	0.0:0.2983:0.0:0.7017	.	473;473;378;489;537	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	L	539;473;489;489;423;537;471;376	ENSP00000193532:F489L	ENSP00000306782:F376L	F	+	3	2	PTPRC	196954012	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.637000	0.05459	-0.369000	0.08028	0.585000	0.79938	TTC		0.383	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				A	198687389	C	A	198687389	3	1	45	1	0	0	0	0	1	0	0	0	12803	854	30	4	1672	4	PTPRC	1	198687389	Missense_Mutation	SNP	C	TCGA-A3-3323-01A-01D-0966-08	84163702	198687389	50563232	4	3294											
USH2A	7399	hgsc.bcm.edu;ucsc.edu	37	1	216051167	216051168	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr1:216051167_216051168insT	ENST00000307340.3	-	43	8999_9000	c.8613_8614insA	c.(8611-8616)gaagatfs	p.D2872fs	USH2A_ENST00000366943.2_Frame_Shift_Ins_p.D2872fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2872	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGATTTAAATCTTCTGGGGGAT	0.381										HNSCC(13;0.011)																																						0																																										SO:0001589	frameshift_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8614dupA	1.37:g.216051169_216051169dupT	ENSP00000305941:p.Asp2872fs		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Ins	INS	ENST00000307340.3	37	CCDS31025.1																																																																																				0.381	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216051168	-	T	216051167	7	5	45	1	0	1	1	0	0	0	0	0	17041	913	32	0	7114	0	USH2A	1	216051167	Frame_Shift_Ins	INS	-	TCGA-A3-3323-01A-01D-0966-08	17363778	216051167	33199454	5	3295											
C1orf198	84886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	230991424	230991424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr1:230991424C>T	ENST00000366663.5	-	2	514	c.374G>A	c.(373-375)tGg>tAg	p.W125*	C1orf198_ENST00000523410.1_5'UTR|C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Nonsense_Mutation_p.W87*	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	125						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTTTGTTTCCCAGGAGAAAGG	0.348																																																0													85	90	89					1																	230991424		2203	4300	6503	SO:0001587	stop_gained	84886			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.374G>A	1.37:g.230991424C>T	ENSP00000355623:p.Trp125*		A8K8R8|B3KTW1|G5EA08	Nonsense_Mutation	SNP	ENST00000366663.5	37	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	c	39	7.418497	0.98272	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000522201	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9358	15.0225	0.71640	0.0:1.0:0.0:0.0	.	.	.	.	X	125;87;82	.	ENSP00000355623:W125X	W	-	2	0	C1orf198	229058047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.822000	0.62686	2.606000	0.88127	0.558000	0.71614	TGG		0.348	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		T	230991424	C	T	230991424	4	4	45	1	0	0	0	0	0	1	0	0	2028	595	21	2	621	2	C1orf198	1	230991424	Nonsense_Mutation	SNP	C	TCGA-A3-3323-01A-01D-0966-08	14940257	230991424	18259197	6	3296											
PSD4	23550	hgsc.bcm.edu	37	2	113940101	113940101	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr2:113940101A>C	ENST00000245796.6	+	2	263	c.68A>C	c.(67-69)gAc>gCc	p.D23A	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.3_Missense_Mutation_p.D23A	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	23					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TACTTGGGAGACAGCCTGGAG	0.607																																																0													73	68	70					2																	113940101		2203	4300	6503	SO:0001583	missense	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.68A>C	2.37:g.113940101A>C	ENSP00000245796:p.Asp23Ala		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.537664	0.27475	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.27104	1.69;1.71	5.0	2.58	0.30949	.	0.603757	0.15793	N	0.244327	T	0.17450	0.0419	L	0.27053	0.805	0.80722	D	1	P;B	0.36909	0.573;0.437	B;B	0.38378	0.272;0.14	T	0.04840	-1.0923	10	0.62326	D	0.03	.	6.0879	0.19978	0.7955:0.0:0.2045:0.0	.	23;23	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	A	23	ENSP00000245796:D23A;ENSP00000413997:D23A	ENSP00000245796:D23A	D	+	2	0	PSD4	113656572	0.734000	0.28142	0.747000	0.31113	0.188000	0.23474	1.109000	0.31135	0.726000	0.32339	0.379000	0.24179	GAC		0.607	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		C	113940101	A	C	113940101	3	2	45	1	0	0	0	0	1	0	0	0	12654	275	10	5	70	5	PSD4	2	113940101	Missense_Mutation	SNP	A	TCGA-A3-3323-01A-01D-0966-08		113940101	129259272	7	3297											
MCM6	4175	broad.mit.edu;hgsc.bcm.edu	37	2	136633848	136633848	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr2:136633848A>T	ENST00000264156.2	-	1	148	c.88T>A	c.(88-90)Ttc>Atc	p.F30I		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	30					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		AAGTCCAGGAACAGTTTCTGG	0.716																																					Ovarian(196;141 2104 8848 24991 25939)											0													15	21	19					2																	136633848		2182	4275	6457	SO:0001583	missense	4175				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.88T>A	2.37:g.136633848A>T	ENSP00000264156:p.Phe30Ile		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	A	36	5.638742	0.96693	.	.	ENSG00000076003	ENST00000264156	T	0.21932	1.98	4.95	4.95	0.65309	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72225	-0.4355	10	0.62326	D	0.03	-15.4816	14.7872	0.69813	1.0:0.0:0.0:0.0	.	30	Q14566	MCM6_HUMAN	I	30	ENSP00000264156:F30I	ENSP00000264156:F30I	F	-	1	0	MCM6	136350318	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	8.576000	0.90770	2.075000	0.62263	0.377000	0.23210	TTC		0.716	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		T	136633848	A	T	136633848	3	4	45	1	0	0	0	0	1	0	0	0	9393	43	2	5	2445	5	MCM6	2	136633848	Missense_Mutation	SNP	A	TCGA-A3-3323-01A-01D-0966-08	22693747	136633848	106565525	8	3298											
SLC4A3	6508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220493280	220493280	+	Missense_Mutation	SNP	C	C	T	rs150796797	byFrequency	TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr2:220493280C>T	ENST00000358055.3	+	3	717	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R69W|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R69W|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R69W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R69W			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	69					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTACAGCGAGCGGGACTTTGA	0.657																																																0								C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	32	38	36		205,205	3.2	1	2	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SLC4A3	NM_005070.3,NM_201574.2	101,101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	69/1233,69/1260	220493280	2,13004	2203	4300	6503	SO:0001583	missense	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.205C>T	2.37:g.220493280C>T	ENSP00000350756:p.Arg69Trp		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107395	0.77096	2.27E-4	1.16E-4	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.75050	-0.89;-0.89;-0.9;-0.9;-0.89	4.19	3.22	0.36961	.	0.138177	0.47093	D	0.000241	T	0.75049	0.3797	L	0.40543	1.245	0.40787	D	0.983226	D;D	0.76494	0.993;0.999	P;P	0.59546	0.639;0.859	T	0.77300	-0.2639	10	0.87932	D	0	.	8.9855	0.35992	0.3523:0.6477:0.0:0.0	.	69;69	P48751;P48751-3	B3A3_HUMAN;.	W	69	ENSP00000350756:R69W;ENSP00000362865:R69W;ENSP00000273063:R69W;ENSP00000362867:R69W;ENSP00000314006:R69W	ENSP00000273063:R69W	R	+	1	2	SLC4A3	220201524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.769000	0.38522	2.165000	0.68154	0.462000	0.41574	CGG		0.657	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		T	220493280	C	T	220493280	3	4	45	1	0	0	0	0	1	0	0	0	14661	759	27	1	211	1	SLC4A3	2	220493280	Missense_Mutation	SNP	C	TCGA-A3-3323-01A-01D-0966-08	83859432	220493280	22706093	9	3299											
SCN5A	6331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38622777	38622777	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr3:38622777T>C	ENST00000333535.4	-	17	3022	c.2873A>G	c.(2872-2874)aAc>aGc	p.N958S	SCN5A_ENST00000455624.2_Missense_Mutation_p.N958S|SCN5A_ENST00000413689.1_Missense_Mutation_p.N958S|SCN5A_ENST00000423572.2_Missense_Mutation_p.N958S|SCN5A_ENST00000425664.1_Missense_Mutation_p.N958S|SCN5A_ENST00000451551.2_Missense_Mutation_p.N958S|SCN5A_ENST00000443581.1_Missense_Mutation_p.N958S|SCN5A_ENST00000450102.2_Missense_Mutation_p.N958S|SCN5A_ENST00000414099.2_Missense_Mutation_p.N958S|SCN5A_ENST00000449557.2_Missense_Mutation_p.N958S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	958					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCTGGAGGTTGTTCATCTC	0.597																																																0													33	34	34					3																	38622777		2079	4240	6319	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2873A>G	3.37:g.38622777T>C	ENSP00000328968:p.Asn958Ser		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.798756	0.70567	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	4.59	4.59	0.56863	Sodium ion transport-associated (1);	0.097333	0.64402	D	0.000001	D	0.93615	0.7961	M	0.86028	2.79	0.43283	D	0.995258	P;D;P;P;P;D;P	0.76494	0.63;0.999;0.884;0.825;0.63;0.999;0.791	B;D;B;B;B;D;B	0.85130	0.191;0.992;0.301;0.285;0.191;0.997;0.187	D	0.94622	0.7814	10	0.87932	D	0	.	14.1663	0.65477	0.0:0.0:0.0:1.0	.	958;958;958;958;958;958;958	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	S	958	ENSP00000398962:N958S;ENSP00000398266:N958S;ENSP00000410257:N958S;ENSP00000388797:N958S;ENSP00000397915:N958S;ENSP00000416634:N958S;ENSP00000328968:N958S;ENSP00000399524:N958S;ENSP00000403355:N958S;ENSP00000413996:N958S	ENSP00000328968:N958S	N	-	2	0	SCN5A	38597781	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.868000	0.87116	1.945000	0.56424	0.533000	0.62120	AAC		0.597	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		C	38622777	T	C	38622777	3	2	45	1	0	0	0	0	1	0	0	0	13928	1725	60	3	3225	3	SCN5A	3	38622777	Missense_Mutation	SNP	T	TCGA-A3-3323-01A-01D-0966-08		38622777	159399653	10	3300											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52685756	52685756	+	Splice_Site	SNP	A	A	G			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr3:52685756A>G	ENST00000296302.7	-	6	716		c.e6+1		PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATCTTCATACCTGTATCCT	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													142	135	137					3																	52685756		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.714+1T>C	3.37:g.52685756A>G			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	25.0	4.594042	0.86953	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.515	0.75815	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52660796	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.578000	0.90777	2.056000	0.61249	0.533000	0.62120	.		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	G	52685756	A	G	52685756	5	3	45	1	0	0	0	0	0	0	1	0	11493	405	14	3	4284	3	PBRM1	3	52685756	Splice_Site	SNP	A	TCGA-A3-3323-01A-01D-0966-08	14062979	52685756	145336674	11	3301											
POPDC2	64091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	119378938	119378938	+	Silent	SNP	G	G	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr3:119378938G>A	ENST00000264231.3	-	1	499	c.333C>T	c.(331-333)ctC>ctT	p.L111L	POPDC2_ENST00000493094.1_Silent_p.L111L|POPDC2_ENST00000468801.1_Silent_p.L111L|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000538678.1_Silent_p.L111L	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	111					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GCGTCTTGTAGAGGAGGTCAA	0.572																																																0													144	130	134					3																	119378938		2203	4300	6503	SO:0001819	synonymous_variant	64091			AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.333C>T	3.37:g.119378938G>A			Q86UE7	Silent	SNP	ENST00000264231.3	37	CCDS2992.1																																																																																				0.572	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		A	119378938	G	A	119378938	2	1	45	1	0	0	0	0	0	0	0	1	12257	929	33	2		2	POPDC2	3	119378938	Silent	SNP	G	TCGA-A3-3323-01A-01D-0966-08	66693182	119378938	78643492	12	3302											
LRRC33	375387	hgsc.bcm.edu;ucsc.edu	37	3	196386769	196386775	+	Frame_Shift_Del	DEL	CCTCAGC	CCTCAGC	-			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	CCTCAGC	CCTCAGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr3:196386769_196386775delCCTCAGC	ENST00000328557.4	+	3	458_464	c.255_261delCCTCAGC	c.(253-261)agcctcagcfs	p.SLS85fs		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	85					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TCCTGGAGAGCCTCAGCCTGCACAGCT	0.657																																																0																																										SO:0001589	frameshift_variant	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.255_261delCCTCAGC	3.37:g.196386769_196386775delCCTCAGC	ENSP00000328625:p.Ser85fs			Frame_Shift_Del	DEL	ENST00000328557.4	37	CCDS3319.1																																																																																				0.657	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		-	196386775	CCTCAGC	-	196386769	7	5	45	1	0	1	0	1	0	0	0	0	8990	738	26	0	261	0	LRRC33	3	196386769	Frame_Shift_Del	DEL	CCTCAGC	TCGA-A3-3323-01A-01D-0966-08	77007831	196386769	1635661	13	3303											
ATP10D	57205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	47538705	47538705	+	Silent	SNP	C	C	G			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr4:47538705C>G	ENST00000273859.3	+	9	1415	c.1146C>G	c.(1144-1146)gtC>gtG	p.V382V	ATP10D_ENST00000504445.1_Intron	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	382					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTTCTTAGGTCTTGATTCCTA	0.308																																																0													81	82	82					4																	47538705		2200	4296	6496	SO:0001819	synonymous_variant	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1146C>G	4.37:g.47538705C>G			A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	CCDS3476.1																																																																																				0.308	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		G	47538705	C	G	47538705	2	3	45	1	0	0	0	0	0	0	0	1	1118	900	32	4		4	ATP10D	4	47538705	Silent	SNP	C	TCGA-A3-3323-01A-01D-0966-08		47538705	143615571	14	3304											
NKD2	85409	broad.mit.edu;ucsc.edu	37	5	1032288	1032288	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr5:1032288A>C	ENST00000296849.5	+	4	392	c.163A>C	c.(163-165)Aag>Cag	p.K55Q	NKD2_ENST00000274150.4_Missense_Mutation_p.K55Q|NKD2_ENST00000537972.1_Missense_Mutation_p.K55Q	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	55	Targeting to the basolateral cell membrane.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGGGGACCCCAAGGAGGGGCC	0.657																																																0													60	71	67					5																	1032288		2202	4297	6499	SO:0001583	missense	85409			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.163A>C	5.37:g.1032288A>C	ENSP00000296849:p.Lys55Gln		Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	37	CCDS3859.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297484	0.23650	.	.	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.00581	6.42;6.42;6.42	4.2	3.01	0.34805	.	0.155772	0.40222	N	0.001152	T	0.00724	0.0024	M	0.63843	1.955	0.80722	D	1	P;P	0.37101	0.582;0.582	B;B	0.35655	0.207;0.207	T	0.73065	-0.4100	10	0.29301	T	0.29	-3.4584	7.7334	0.28799	0.7861:0.2139:0.0:0.0	.	55;55	Q969F2-2;Q969F2	.;NKD2_HUMAN	Q	55	ENSP00000296849:K55Q;ENSP00000274150:K55Q;ENSP00000440925:K55Q	ENSP00000274150:K55Q	K	+	1	0	NKD2	1085288	0.961000	0.32948	0.043000	0.18650	0.038000	0.13279	2.393000	0.44442	0.476000	0.27440	0.402000	0.26972	AAG		0.657	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		C	1032288	A	C	1032288	3	2	45	1	0	0	0	0	1	0	0	0	10444	131	5	5	177	5	NKD2	5	1032288	Missense_Mutation	SNP	A	TCGA-A3-3323-01A-01D-0966-08		1032288	179882972	15	3305											
HSPA9	3313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137902359	137902359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr5:137902359C>A	ENST00000297185.3	-	9	1053	c.928G>T	c.(928-930)Gaa>Taa	p.E310*	HSPA9_ENST00000501917.2_5'UTR	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	310					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCAGCAGCTTCCCGTACCCTC	0.433																																																0													160	148	152					5																	137902359		2203	4300	6503	SO:0001587	stop_gained	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.928G>T	5.37:g.137902359C>A	ENSP00000297185:p.Glu310*		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Nonsense_Mutation	SNP	ENST00000297185.3	37	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	38	7.005480	0.97998	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	.	.	.	4.98	4.98	0.66077	.	0.096500	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.1398	18.2292	0.89928	0.0:1.0:0.0:0.0	.	.	.	.	X	310;263;296	.	ENSP00000297185:E310X	E	-	1	0	HSPA9	137930258	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	7.625000	0.83145	2.458000	0.83093	0.591000	0.81541	GAA		0.433	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		A	137902359	C	A	137902359	4	1	45	1	0	0	0	0	0	1	0	0	7419	864	30	4	1147	4	HSPA9	5	137902359	Nonsense_Mutation	SNP	C	TCGA-A3-3323-01A-01D-0966-08	136870071	137902359	43012901	16	3306											
ARAP3	64411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141051674	141051674	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr5:141051674C>A	ENST00000239440.4	-	10	1645	c.1580G>T	c.(1579-1581)tGt>tTt	p.C527F	ARAP3_ENST00000513878.1_Missense_Mutation_p.C189F|ARAP3_ENST00000508305.1_Missense_Mutation_p.C449F	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	527	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.C527Y(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTCACCTGCACACTGCTTGCA	0.612																																																1	Substitution - Missense(1)	endometrium(1)											161	161	161					5																	141051674		2203	4300	6503	SO:0001583	missense	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1580G>T	5.37:g.141051674C>A	ENSP00000239440:p.Cys527Phe		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354412	0.61293	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	D;D;D	0.96011	-3.88;-3.88;-3.88	3.39	2.52	0.30459	.	0.000000	0.85682	U	0.000000	D	0.98416	0.9473	H	0.98664	4.295	0.46096	D	0.998869	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.961;0.989	D	0.97762	1.0221	10	0.87932	D	0	.	10.2292	0.43245	0.0:0.8984:0.0:0.1016	.	189;449;527	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	F	449;527;189	ENSP00000421826:C449F;ENSP00000239440:C527F;ENSP00000421468:C189F	ENSP00000239440:C527F	C	-	2	0	ARAP3	141031858	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.881000	0.69706	0.631000	0.30412	0.563000	0.77884	TGT		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		A	141051674	C	A	141051674	3	1	45	1	0	0	0	0	1	0	0	0	840	478	17	4	3150	4	ARAP3	5	141051674	Missense_Mutation	SNP	C	TCGA-A3-3323-01A-01D-0966-08	3149315	141051674	39863586	17	3307											
SLC39A7	7922	hgsc.bcm.edu;ucsc.edu	37	6	33169301	33169307	+	Frame_Shift_Del	DEL	CCATGGC	CCATGGC	-			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	CCATGGC	CCATGGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr6:33169301_33169307delCCATGGC	ENST00000374677.3	+	1	652_658	c.279_285delCCATGGC	c.(277-285)agccatggcfs	p.SHG93fs	SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.SHG93fs|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000374685.4_5'Flank|RNY4P10_ENST00000365571.1_RNA	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	93	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATGGCCATAGCCATGGCTACTCCCATG	0.556																																																0																																										SO:0001589	frameshift_variant	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.279_285delCCATGGC	6.37:g.33169301_33169307delCCATGGC	ENSP00000363809:p.Ser93fs		B0UXF6|Q5STP8|Q9UIQ0	Frame_Shift_Del	DEL	ENST00000374677.3	37	CCDS43453.1																																																																																				0.556	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		-	33169307	CCATGGC	-	33169301	7	5	45	1	0	1	0	1	0	0	0	0	14629	738	26	0	281	0	SLC39A7	6	33169301	Frame_Shift_Del	DEL	CCATGGC	TCGA-A3-3323-01A-01D-0966-08		33169301	137945766	18	3308											
BYSL	705	broad.mit.edu	37	6	41889389	41889389	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr6:41889389G>T	ENST00000230340.4	+	1	464	c.89G>T	c.(88-90)cGg>cTg	p.R30L	MED20_ENST00000467535.1_5'Flank|MED20_ENST00000409312.1_5'Flank|MED20_ENST00000265350.4_5'Flank|MED20_ENST00000409060.1_5'Flank	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	30					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AATGCGGTGCGGGCGGGGGTC	0.647											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													11	16	14					6																	41889389		2180	4264	6444	SO:0001583	missense	705			L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.89G>T	6.37:g.41889389G>T	ENSP00000230340:p.Arg30Leu	904	Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	ENST00000230340.4	37	CCDS34450.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746221	0.69418	.	.	ENSG00000112578	ENST00000230340	T	0.22134	1.97	4.87	3.92	0.45320	.	0.063968	0.64402	D	0.000005	T	0.12561	0.0305	M	0.73217	2.22	0.80722	D	1	B	0.32160	0.358	B	0.29716	0.106	T	0.04976	-1.0914	10	0.72032	D	0.01	-15.163	8.4304	0.32755	0.1591:0.0:0.8409:0.0	.	30	Q13895	BYST_HUMAN	L	30	ENSP00000230340:R30L	ENSP00000230340:R30L	R	+	2	0	BYSL	41997367	1.000000	0.71417	0.885000	0.34714	0.277000	0.26821	3.461000	0.53035	2.517000	0.84864	0.655000	0.94253	CGG		0.647	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			T	41889389	G	T	41889389	3	4	45	1	0	0	0	0	1	0	0	0	1578	1116	39	4	91	4	BYSL	6	41889389	Missense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08	8720088	41889389	129225678	19	3309											
SLC29A4	222962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	5330777	5330777	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr7:5330777G>A	ENST00000396872.3	+	4	485	c.324G>A	c.(322-324)atG>atA	p.M108I	SLC29A4_ENST00000406453.3_Missense_Mutation_p.M108I|SLC29A4_ENST00000297195.4_Missense_Mutation_p.M108I			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	108					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TGTTTGACATGAGCCTCACCT	0.627																																																0													101	86	91					7																	5330777		2203	4300	6503	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.324G>A	7.37:g.5330777G>A	ENSP00000380081:p.Met108Ile		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	16.76	3.211572	0.58343	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.5	3.6	0.41247	Major facilitator superfamily domain, general substrate transporter (1);	0.090555	0.85682	D	0.000000	T	0.32255	0.0823	M	0.66439	2.03	0.58432	D	0.999992	P;P	0.42941	0.794;0.696	B;B	0.39805	0.31;0.156	T	0.11421	-1.0588	10	0.48119	T	0.1	-12.217	11.6887	0.51503	0.0:0.0:0.8222:0.1778	.	108;108	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	I	108	ENSP00000406803:M108I;ENSP00000380081:M108I;ENSP00000413271:M108I;ENSP00000297195:M108I;ENSP00000385845:M108I	ENSP00000297195:M108I	M	+	3	0	SLC29A4	5297303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.907000	0.63300	0.854000	0.35336	0.556000	0.70494	ATG		0.627	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		A	5330777	G	A	5330777	3	1	45	1	0	0	0	0	1	0	0	0	14543	1290	45	2	334	2	SLC29A4	7	5330777	Missense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08		5330777	153807886	20	3310											
HECW1	23072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	43484071	43484071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr7:43484071G>T	ENST00000395891.2	+	11	1905	c.1300G>T	c.(1300-1302)Gga>Tga	p.G434*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.G434*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	434					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGTCTCTGTGGGACCTGAAGG	0.622																																																0													22	25	24					7																	43484071		2078	4211	6289	SO:0001587	stop_gained	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1300G>T	7.37:g.43484071G>T	ENSP00000379228:p.Gly434*		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	39	7.309118	0.98203	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.2	2.35	0.29111	.	2.606440	0.01395	N	0.013368	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	7.1438	0.25570	0.2599:0.1187:0.6214:0.0	.	.	.	.	X	434	.	ENSP00000265522:G434X	G	+	1	0	HECW1	43450596	0.001000	0.12720	0.001000	0.08648	0.282000	0.26991	1.036000	0.30228	0.272000	0.22027	0.591000	0.81541	GGA		0.622	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		T	43484071	G	T	43484071	4	4	45	1	0	0	0	0	0	1	0	0	7044	1233	43	4	1334	4	HECW1	7	43484071	Nonsense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08	38153294	43484071	115654592	21	3311											
MRPS24	64951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	43906364	43906364	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr7:43906364A>C	ENST00000317534.5	-	4	499	c.438T>G	c.(436-438)ttT>ttG	p.F146L	URGCP-MRPS24_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'Flank	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	146					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						GACATTTGTAAAAGTAGGACA	0.488																																																0													83	80	81					7																	43906364		2203	4300	6503	SO:0001583	missense	64951			AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"Mitochondrial ribosomal proteins / small subunits"	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.438T>G	7.37:g.43906364A>C	ENSP00000318158:p.Phe146Leu		A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	ENST00000317534.5	37	CCDS5473.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396460	0.25205	.	.	ENSG00000062582	ENST00000317534	T	0.37584	1.19	4.96	-1.86	0.07760	.	0.215064	0.48286	N	0.000193	T	0.23611	0.0571	L	0.35854	1.095	0.41986	D	0.990825	B	0.12630	0.006	B	0.16289	0.015	T	0.02877	-1.1099	10	0.44086	T	0.13	.	8.7591	0.34663	0.2329:0.1454:0.6217:0.0	.	146	Q96EL2	RT24_HUMAN	L	146	ENSP00000318158:F146L	ENSP00000318158:F146L	F	-	3	2	MRPS24	43872889	0.987000	0.35691	0.907000	0.35723	0.903000	0.53119	0.130000	0.15850	-0.623000	0.05618	0.459000	0.35465	TTT		0.488	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		C	43906364	A	C	43906364	3	2	45	1	0	0	0	0	1	0	0	0	9837	11	1	5	69	5	MRPS24	7	43906364	Missense_Mutation	SNP	A	TCGA-A3-3323-01A-01D-0966-08	422293	43906364	115232299	22	3312											
MUC17	140453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100686874	100686874	+	Silent	SNP	T	T	G			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr7:100686874T>G	ENST00000306151.4	+	3	12241	c.12177T>G	c.(12175-12177)tcT>tcG	p.S4059S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4059					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAATTACTTCTCACACCATCC	0.537																																																0													367	294	318					7																	100686874		2203	4300	6503	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12177T>G	7.37:g.100686874T>G			O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.537	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100686874	T	G	100686874	2	3	45	1	0	0	0	0	0	0	0	1	9976	1538	54	5		5	MUC17	7	100686874	Silent	SNP	T	TCGA-A3-3323-01A-01D-0966-08	56780510	100686874	58451789	23	3313											
RELN	5649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	103130250	103130250	+	Silent	SNP	G	G	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr7:103130250G>T	ENST00000428762.1	-	60	9861	c.9702C>A	c.(9700-9702)ctC>ctA	p.L3234L	RELN_ENST00000343529.5_Silent_p.L3234L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.L3234L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3234	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCCGCTGCAGAGCTTGGGGC	0.552																																					NSCLC(146;835 1944 15585 22231 52158)											0													102	76	85					7																	103130250		2203	4300	6503	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9702C>A	7.37:g.103130250G>T			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																				0.552	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103130250	G	T	103130250	2	4	45	1	0	0	0	0	0	0	0	1	13226	929	33	4		4	RELN	7	103130250	Silent	SNP	G	TCGA-A3-3323-01A-01D-0966-08	2443376	103130250	56008413	24	3314											
ZNF800	168850	broad.mit.edu	37	7	127014261	127014261	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr7:127014261G>A	ENST00000393313.1	-	5	1720	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Missense_Mutation_p.H377Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.H377Y			Q2TB10	ZN800_HUMAN	zinc finger protein 800	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ATTTGCATATGTCTTTTAAGC	0.328																																																0													93	99	97					7																	127014261		2203	4299	6502	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1129C>T	7.37:g.127014261G>A	ENSP00000376989:p.His377Tyr		Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928241	0.52759	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.59772	0.24;0.24;0.24	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	N	0.19112	0.55	0.36534	D	0.870870	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	T	0.61337	-0.7083	8	.	.	.	-25.5389	18.7799	0.91928	0.0:0.0:1.0:0.0	.	280;377	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Y	377	ENSP00000376989:H377Y;ENSP00000265827:H377Y;ENSP00000376988:H377Y	.	H	-	1	0	ZNF800	126801497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.699000	0.91316	2.685000	0.91497	0.650000	0.86243	CAT		0.328	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		A	127014261	G	A	127014261	3	1	45	1	0	0	0	0	1	0	0	0	18174	1377	48	2	873	2	ZNF800	7	127014261	Missense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08	23884011	127014261	32124402	25	3315											
C7orf45	136263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129847772	129847772	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr7:129847772T>G	ENST00000297819.3	+	1	73	c.22T>G	c.(22-24)Ttt>Gtt	p.F8V	TMEM209_ENST00000336804.8_5'Flank|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_5'Flank|TMEM209_ENST00000473456.1_5'Flank|TMEM209_ENST00000397622.2_5'Flank	NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	8						integral component of membrane (GO:0016021)											TTTTTCCTTATTTTGGGAGGT	0.423																																																0													177	168	171					7																	129847772		2203	4300	6503	SO:0001583	missense	136263			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.22T>G	7.37:g.129847772T>G	ENSP00000297819:p.Phe8Val			Missense_Mutation	SNP	ENST00000297819.3	37	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263162	0.80358	.	.	ENSG00000165120	ENST00000297819	T	0.58652	0.32	5.54	5.54	0.83059	.	0.183949	0.39083	N	0.001474	T	0.72977	0.3528	M	0.67953	2.075	0.41734	D	0.989577	D	0.89917	1.0	D	0.87578	0.998	T	0.76348	-0.2992	10	0.87932	D	0	-20.9667	12.3511	0.55148	0.0:0.0:0.0:1.0	.	8	Q8WWF3	CG045_HUMAN	V	8	ENSP00000297819:F8V	ENSP00000297819:F8V	F	+	1	0	C7orf45	129635008	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.582000	0.46085	2.243000	0.73865	0.533000	0.62120	TTT		0.423	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		G	129847772	T	G	129847772	3	3	45	1	0	0	0	0	1	0	0	0	2397	1493	52	5	24	5	C7orf45	7	129847772	Missense_Mutation	SNP	T	TCGA-A3-3323-01A-01D-0966-08	2833511	129847772	29290891	26	3316											
TRPV5	56302	hgsc.bcm.edu;ucsc.edu	37	7	142609708	142609708	+	Frame_Shift_Del	DEL	G	G	-	rs369197446		TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr7:142609708delG	ENST00000265310.1	-	13	2076	c.1728delC	c.(1726-1728)gccfs	p.A576fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	576					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CGCCCATCATGGCGATGAACA	0.542																																																0													132	115	120					7																	142609708		2203	4300	6503	SO:0001589	frameshift_variant	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1728delC	7.37:g.142609708delG	ENSP00000265310:p.Ala576fs		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Del	DEL	ENST00000265310.1	37	CCDS5875.1																																																																																				0.542	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		-	142609708	G	-	142609708	7	5	45	1	0	1	0	1	0	0	0	0	16604	1335	47	0	473	0	TRPV5	7	142609708	Frame_Shift_Del	DEL	G	TCGA-A3-3323-01A-01D-0966-08	12761936	142609708	16528955	27	3317											
AP3M2	10947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	42015561	42015561	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr8:42015561G>A	ENST00000518421.1	+	4	667	c.376G>A	c.(376-378)Gag>Aag	p.E126K	AP3M2_ENST00000396926.3_Missense_Mutation_p.E126K|AP3M2_ENST00000174653.3_Missense_Mutation_p.E126K|AP3M2_ENST00000517922.1_Missense_Mutation_p.E126K|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	126					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ATTGGCTACCGAGTCGAACAT	0.433																																																0													185	168	174					8																	42015561		2203	4300	6503	SO:0001583	missense	10947			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.376G>A	8.37:g.42015561G>A	ENSP00000428787:p.Glu126Lys		B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530849	0.96446	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280;ENST00000522288;ENST00000517922;ENST00000517499	T;T;T;T;T	0.79749	-1.29;-1.29;-1.29;-1.3;-1.26	4.79	4.79	0.61399	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.92877	0.7734	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.95097	0.8227	10	0.87932	D	0	-28.7842	18.2325	0.89938	0.0:0.0:1.0:0.0	.	126;126	E7ER80;P53677	.;AP3M2_HUMAN	K	126;126;126;11;126;126;35	ENSP00000428787:E126K;ENSP00000174653:E126K;ENSP00000380132:E126K;ENSP00000430616:E11K;ENSP00000429435:E126K	ENSP00000174653:E126K	E	+	1	0	AP3M2	42134718	1.000000	0.71417	0.928000	0.36995	0.912000	0.54170	9.330000	0.96422	2.363000	0.80096	0.650000	0.86243	GAG		0.433	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			A	42015561	G	A	42015561	3	1	45	1	0	0	0	0	1	0	0	0	748	1059	37	1	382	1	AP3M2	8	42015561	Missense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08		42015561	104348461	28	3318											
TRPM6	140803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	77417087	77417087	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr9:77417087T>A	ENST00000360774.1	-	16	1973	c.1736A>T	c.(1735-1737)aAg>aTg	p.K579M	TRPM6_ENST00000376864.4_Missense_Mutation_p.K579M|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.K579M|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000361255.3_Missense_Mutation_p.K574M|TRPM6_ENST00000449912.2_Missense_Mutation_p.K574M|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	579					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GACTATAGACTTTTCCTGTTG	0.343																																																0													51	48	49					9																	77417087		2203	4300	6503	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1736A>T	9.37:g.77417087T>A	ENSP00000354006:p.Lys579Met		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.537224	0.45176	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.28	4.12	0.48240	.	0.749945	0.13193	N	0.406569	T	0.82107	0.4965	M	0.63428	1.95	0.42070	D	0.9912	D;B	0.67145	0.996;0.106	P;B	0.57776	0.827;0.089	T	0.79640	-0.1719	10	0.87932	D	0	.	7.3543	0.26711	0.1291:0.0718:0.0:0.7991	.	579;574	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	M	579;579;574;574;579;242;242	ENSP00000354006:K579M;ENSP00000407341:K579M;ENSP00000396672:K574M;ENSP00000354962:K574M;ENSP00000366060:K579M	ENSP00000309693:K242M	K	-	2	0	TRPM6	76606907	0.994000	0.37717	0.975000	0.42487	0.627000	0.37826	2.163000	0.42377	0.815000	0.34398	-0.480000	0.04831	AAG		0.343	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		A	77417087	T	A	77417087	3	1	45	1	0	0	0	0	1	0	0	0	16595	1609	56	5	4428	5	TRPM6	9	77417087	Missense_Mutation	SNP	T	TCGA-A3-3323-01A-01D-0966-08		77417087	63796344	29	3319											
PSAT1	29968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	80923397	80923397	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr9:80923397G>A	ENST00000376588.3	+	6	706	c.638G>A	c.(637-639)cGt>cAt	p.R213H	PSAT1_ENST00000347159.2_Missense_Mutation_p.R213H	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	213					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						GTGATTGTCCGTGATGACCTG	0.522																																					Colon(34;187 791 10662 18313 37609)											0													144	122	129					9																	80923397		2203	4300	6503	SO:0001583	missense	29968			BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.638G>A	9.37:g.80923397G>A	ENSP00000365773:p.Arg213His		Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622463	0.96660	.	.	ENSG00000135069	ENST00000421149;ENST00000347159;ENST00000376588	T;T	0.67171	-0.25;-0.25	5.59	5.59	0.84812	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.83289	0.5222	M	0.83118	2.625	0.80722	D	1	D;P	0.89917	1.0;0.937	D;P	0.65443	0.935;0.549	D	0.85369	0.1112	10	0.87932	D	0	-0.1772	19.5905	0.95508	0.0:0.0:1.0:0.0	.	213;213	Q9Y617-2;Q9Y617	.;SERC_HUMAN	H	37;213;213	ENSP00000317606:R213H;ENSP00000365773:R213H	ENSP00000317606:R213H	R	+	2	0	PSAT1	80113217	1.000000	0.71417	0.923000	0.36655	0.975000	0.68041	9.409000	0.97331	2.638000	0.89438	0.557000	0.71058	CGT		0.522	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		A	80923397	G	A	80923397	3	1	45	1	0	0	0	0	1	0	0	0	12649	1145	40	1	660	1	PSAT1	9	80923397	Missense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08	3506310	80923397	60290034	30	3320											
FAM73B	84895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131804663	131804663	+	Silent	SNP	C	C	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr9:131804663C>T	ENST00000358369.4	+	3	403	c.177C>T	c.(175-177)gcC>gcT	p.A59A	FAM73B_ENST00000406926.2_Silent_p.A59A|FAM73B_ENST00000474534.1_3'UTR|FAM73B_ENST00000277475.5_Silent_p.A59A	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	59					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TGGCCCTGGCCCTGGCTGCCC	0.657																																																0													45	37	40					9																	131804663		2203	4300	6503	SO:0001819	synonymous_variant	84895			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.177C>T	9.37:g.131804663C>T			Q8NBM3|Q8TEJ6|Q969E6	Silent	SNP	ENST00000358369.4	37	CCDS6917.1																																																																																				0.657	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		T	131804663	C	T	131804663	2	4	45	1	0	0	0	0	0	0	0	1	5620	610	22	2		2	FAM73B	9	131804663	Silent	SNP	C	TCGA-A3-3323-01A-01D-0966-08	50881266	131804663	9408768	31	3321											
ITGA5	3678	broad.mit.edu;hgsc.bcm.edu	37	12	54798566	54798566	+	Silent	SNP	C	C	G			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr12:54798566C>G	ENST00000293379.4	-	13	1599	c.1338G>C	c.(1336-1338)ctG>ctC	p.L446L	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	446					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGGCTGCCCACAGGGGCTGCA	0.627											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													41	46	45					12																	54798566		2203	4300	6503	SO:0001819	synonymous_variant	3678				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1338G>C	12.37:g.54798566C>G		1003	Q96HA5	Silent	SNP	ENST00000293379.4	37	CCDS8880.1																																																																																				0.627	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			G	54798566	C	G	54798566	2	3	45	1	0	0	0	0	0	0	0	1	7881	465	17	4		4	ITGA5	12	54798566	Silent	SNP	C	TCGA-A3-3323-01A-01D-0966-08		54798566	79053329	32	3322											
MBD6	114785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57920770	57920770	+	Silent	SNP	T	T	G			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr12:57920770T>G	ENST00000355673.3	+	7	2198	c.1842T>G	c.(1840-1842)ccT>ccG	p.P614P	MBD6_ENST00000431731.2_Silent_p.P614P	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	614	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTCCACCTCCTTCAGCACCTC	0.642																																																0													172	139	150					12																	57920770		2203	4300	6503	SO:0001819	synonymous_variant	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1842T>G	12.37:g.57920770T>G			Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	CCDS8944.1																																																																																				0.642	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			G	57920770	T	G	57920770	2	3	45	1	0	0	0	0	0	0	0	1	9350	1596	56	5		5	MBD6	12	57920770	Silent	SNP	T	TCGA-A3-3323-01A-01D-0966-08	3122204	57920770	75931125	33	3323											
GEFT	115557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58010243	58010243	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr12:58010243G>T	ENST00000286494.4	+	14	2057	c.1597G>T	c.(1597-1599)Gag>Tag	p.E533*	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000477314.1_3'UTR|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.E572*|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	533						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						ACCCAAAGGGGAGGTGGCCAG	0.562																																																0													61	59	60					12																	58010243		2203	4300	6503	SO:0001587	stop_gained	115557				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1597G>T	12.37:g.58010243G>T	ENSP00000286494:p.Glu533*		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Nonsense_Mutation	SNP	ENST00000286494.4	37	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	g	39	7.368636	0.98241	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	.	.	.	4.87	3.0	0.34707	.	0.000000	0.36268	N	0.002691	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	6.3617	0.21433	0.0997:0.1879:0.7124:0.0	.	.	.	.	X	572;533	.	ENSP00000286494:E533X	E	+	1	0	ARHGEF25	56296510	1.000000	0.71417	0.998000	0.56505	0.476000	0.33039	1.852000	0.39348	1.181000	0.42912	0.655000	0.94253	GAG		0.562	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		T	58010243	G	T	58010243	4	4	45	1	0	0	0	0	0	1	0	0	6330	1175	41	4	1873	4	GEFT	12	58010243	Nonsense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08	89473	58010243	75841652	34	3324											
CIT	11113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120196473	120196473	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr12:120196473G>A	ENST00000261833.7	-	20	2379	c.2327C>T	c.(2326-2328)tCc>tTc	p.S776F	CIT_ENST00000392521.2_Missense_Mutation_p.S818F|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	776					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGTTCCAGGGATCTGATCTT	0.448																																																0													163	162	163					12																	120196473		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2327C>T	12.37:g.120196473G>A	ENSP00000261833:p.Ser776Phe		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.125060|4.125060	0.77436|0.77436	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.66280	.|-0.16;-0.2	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.198546	.|0.45606	.|D	.|0.000352	T|T	0.66117|0.66117	0.2757|0.2757	N|N	0.24115|0.24115	0.695|0.695	0.53688|0.53688	D|D	0.999977|0.999977	.|D;D;D	.|0.61080	.|0.976;0.989;0.965	.|P;P;P	.|0.56700	.|0.656;0.768;0.804	T|T	0.68435|0.68435	-0.5409|-0.5409	5|10	.|0.66056	.|D	.|0.02	.|.	20.3789|20.3789	0.98926|0.98926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|818;776;309	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	S|F	404|818;776	.|ENSP00000376306:S818F;ENSP00000261833:S776F	.|ENSP00000261833:S776F	P|S	-|-	1|2	0|0	CIT|CIT	118680856|118680856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.677000|4.677000	0.61634|0.61634	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	CCC|TCC		0.448	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		A	120196473	G	A	120196473	3	1	45	1	0	0	0	0	1	0	0	0	3440	1174	41	2	3868	2	CIT	12	120196473	Missense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08	62186230	120196473	13655422	35	3325											
DNAH10	196385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124420000	124420000	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr12:124420000G>C	ENST00000409039.3	+	78	13413	c.13388G>C	c.(13387-13389)gGa>gCa	p.G4463A	DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000544798.1_Intron|RP11-380L11.3_ENST00000602292.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4463					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTGCTGCAAGGAGTATGCCTC	0.493																																																0													172	164	166					12																	124420000		1903	4133	6036	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13388G>C	12.37:g.124420000G>C	ENSP00000386770:p.Gly4463Ala		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005979	0.93287	.	.	ENSG00000197653	ENST00000409039	T	0.13657	2.57	5.39	5.39	0.77823	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64419	-0.6412	10	0.59425	D	0.04	.	17.9454	0.89036	0.0:0.0:1.0:0.0	.	4463	Q8IVF4	DYH10_HUMAN	A	4463	ENSP00000386770:G4463A	ENSP00000386770:G4463A	G	+	2	0	DNAH10	122985953	1.000000	0.71417	0.955000	0.39395	0.975000	0.68041	9.837000	0.99465	2.526000	0.85167	0.561000	0.74099	GGA		0.493	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			C	124420000	G	C	124420000	3	2	45	1	0	0	0	0	1	0	0	0	4600	1174	41	4	13698	4	DNAH10	12	124420000	Missense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08	4223527	124420000	9431895	36	3326											
EP400	57634	broad.mit.edu	37	12	132445443	132445443	+	Silent	SNP	A	A	C	rs562622346		TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr12:132445443A>C	ENST00000333577.4	+	2	388	c.279A>C	c.(277-279)ccA>ccC	p.P93P	EP400_ENST00000389562.2_Silent_p.P93P|EP400_ENST00000332482.4_Silent_p.P93P|EP400_ENST00000389561.2_Silent_p.P93P|EP400_ENST00000330386.6_Silent_p.P93P			Q96L91	EP400_HUMAN	E1A binding protein p400	93					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CACTGGCCCCACTGCCGCTCC	0.622																																																0													47	47	47					12																	132445443		2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.279A>C	12.37:g.132445443A>C			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.622	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		C	132445443	A	C	132445443	2	2	45	1	0	0	0	0	0	0	0	1	5151	146	6	5		5	EP400	12	132445443	Silent	SNP	A	TCGA-A3-3323-01A-01D-0966-08	8025443	132445443	1406452	37	3327											
GOLGA5	9950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	93301996	93301996	+	Missense_Mutation	SNP	A	A	G	rs373869475		TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr14:93301996A>G	ENST00000163416.2	+	11	2294	c.2038A>G	c.(2038-2040)Att>Gtt	p.I680V	GOLGA5_ENST00000355976.2_Missense_Mutation_p.I680V	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	680					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TGCTAGTTCAATTGATCAGTT	0.423			T	RET	papillary thyroid																																		Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	0								A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	83	67	72		2038	5.7	1	14		72	0,8600		0,0,4300	no	missense	GOLGA5	NM_005113.2	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging	680/732	93301996	1,13005	2203	4300	6503	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.2038A>G	14.37:g.93301996A>G	ENSP00000163416:p.Ile680Val		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671915	0.88348	2.27E-4	0.0	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.56776	0.44;0.44	5.69	5.69	0.88448	.	0.000000	0.47455	D	0.000234	T	0.58906	0.2155	L	0.52126	1.63	0.80722	D	1	P	0.40282	0.711	P	0.47941	0.562	T	0.61471	-0.7056	10	0.62326	D	0.03	-23.1752	15.9379	0.79729	1.0:0.0:0.0:0.0	.	680	Q8TBA6	GOGA5_HUMAN	V	680;680;589	ENSP00000163416:I680V;ENSP00000348252:I680V	ENSP00000163416:I680V	I	+	1	0	GOLGA5	92371749	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.950000	0.93019	2.159000	0.67721	0.528000	0.53228	ATT		0.423	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			G	93301996	A	G	93301996	3	3	45	1	0	0	0	0	1	0	0	0	6558	101	4	3	2076	3	GOLGA5	14	93301996	Missense_Mutation	SNP	A	TCGA-A3-3323-01A-01D-0966-08		93301996	14047544	38	3328											
DLL4	54567	broad.mit.edu	37	15	41222315	41222315	+	Splice_Site	SNP	G	G	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr15:41222315G>T	ENST00000249749.5	+	2	612		c.e2+1			NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)						angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CACCTGGCCGGTGAGCACAGC	0.652											OREG0023070	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													10	12	11					15																	41222315		1910	4101	6011	SO:0001630	splice_region_variant	54567			AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"delta-like 4 homolog (Drosophila)"			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.336+1G>T	15.37:g.41222315G>T		899	Q3KP23|Q9NQT9	Splice_Site	SNP	ENST00000249749.5	37	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224540	0.79576	.	.	ENSG00000128917	ENST00000249749	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.025	0.89266	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DLL4	39009607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.208000	0.95075	2.556000	0.86216	0.655000	0.94253	.		0.652	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1		Intron	T	41222315	G	T	41222315	5	4	45	1	0	0	0	0	0	0	1	0	4570	1275	44	4	343	4	DLL4	15	41222315	Splice_Site	SNP	G	TCGA-A3-3323-01A-01D-0966-08		41222315	61309077	39	3329											
CCNB2	9133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59407028	59407028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr15:59407028C>T	ENST00000288207.2	+	5	741	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	CCNB2_ENST00000559622.1_Nonsense_Mutation_p.Q103*	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	184					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TAGGCTTCTGCAGGAGACTCT	0.458																																																0													221	207	212					15																	59407028		2191	4291	6482	SO:0001587	stop_gained	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.550C>T	15.37:g.59407028C>T	ENSP00000288207:p.Gln184*		B3KM93|Q6FI99	Nonsense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382967	0.95967	.	.	ENSG00000157456	ENST00000288207	.	.	.	5.54	5.54	0.83059	.	0.110848	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4665	0.90757	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000288207:Q184X	Q	+	1	0	CCNB2	57194320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.601000	0.87937	0.655000	0.94253	CAG		0.458	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		T	59407028	C	T	59407028	4	4	45	1	0	0	0	0	0	1	0	0	2915	711	25	2	568	2	CCNB2	15	59407028	Nonsense_Mutation	SNP	C	TCGA-A3-3323-01A-01D-0966-08	18184713	59407028	43124364	40	3330											
RPL4	6124	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	66795006	66795006	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr15:66795006T>A	ENST00000307961.6	-	4	457	c.365A>T	c.(364-366)tAc>tTc	p.Y122F	ZWILCH_ENST00000565627.1_5'Flank|ZWILCH_ENST00000535141.2_5'Flank|ZWILCH_ENST00000446801.2_5'Flank|RPL4_ENST00000564517.1_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.Y28F|SNORD18A_ENST00000363753.1_RNA|ZWILCH_ENST00000307897.5_5'Flank|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD16_ENST00000362803.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	122					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						ACAGATGGCGTATCGTTTTTG	0.453																																																0													123	113	117					15																	66795006		2201	4299	6500	SO:0001583	missense	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.365A>T	15.37:g.66795006T>A	ENSP00000311430:p.Tyr122Phe		A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425716	0.43020	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	4.39	4.39	0.52855	Ribosomal protein L4/L1e, eukaryotic/archaeal, conserved site (1);Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	L	0.39898	1.24	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.26416	0.028;0.069	T	0.51741	-0.8667	9	0.31617	T	0.26	-5.0986	14.1025	0.65065	0.0:0.0:0.0:1.0	.	122;122	B4DFI6;P36578	.;RL4_HUMAN	F	122	.	ENSP00000311430:Y122F	Y	-	2	0	RPL4	64582060	1.000000	0.71417	0.853000	0.33588	0.894000	0.52154	7.596000	0.82721	1.974000	0.57490	0.533000	0.62120	TAC		0.453	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		A	66795006	T	A	66795006	3	1	45	1	0	0	0	0	1	0	0	0	13601	1638	57	5	946	5	RPL4	15	66795006	Missense_Mutation	SNP	T	TCGA-A3-3323-01A-01D-0966-08	7387978	66795006	35736386	41	3331											
GOLGA6A	342096	broad.mit.edu	37	15	74365099	74365099	+	Silent	SNP	C	C	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr15:74365099C>A	ENST00000290438.3	-	13	1525	c.1485G>T	c.(1483-1485)gtG>gtT	p.V495V	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	495						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CAGGGAGAGCCACGAGGCTTA	0.582																																																0													39	51	47					15																	74365099		2153	4293	6446	SO:0001819	synonymous_variant	342096			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1485G>T	15.37:g.74365099C>A			A8K959|Q9NYA7	Silent	SNP	ENST00000290438.3	37	CCDS32290.1																																																																																				0.582	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		A	74365099	C	A	74365099	2	1	45	1	0	0	0	0	0	0	0	1	6559	581	21	4		4	GOLGA6A	15	74365099	Silent	SNP	C	TCGA-A3-3323-01A-01D-0966-08	7570093	74365099	28166293	42	3332											
KLHL25	64410	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	86312287	86312287	+	Missense_Mutation	SNP	C	C	T	rs142937016		TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr15:86312287C>T	ENST00000337975.5	-	2	1029	c.755G>A	c.(754-756)aGc>aAc	p.S252N	KLHL25_ENST00000536947.1_Missense_Mutation_p.S252N|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	252					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAGGGCCTCGCTGGAGACGGC	0.647																																																0								C	ASN/SER	2,4402	4.2+/-10.8	0,2,2200	33	29	30		755	0.9	0	15	dbSNP_134	30	0,8598		0,0,4299	no	missense	KLHL25	NM_022480.3	46	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	benign	252/590	86312287	2,13000	2202	4299	6501	SO:0001583	missense	64410				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.755G>A	15.37:g.86312287C>T	ENSP00000336800:p.Ser252Asn		B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	8.593	0.885143	0.17540	4.54E-4	0.0	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.70631	-0.5;-0.5	5.23	0.94	0.19513	.	0.392163	0.27951	N	0.017185	T	0.51075	0.1653	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.26503	-1.0101	10	0.11485	T	0.65	.	7.1907	0.25824	0.0:0.5643:0.2842:0.1515	.	252	Q9H0H3	ENC2_HUMAN	N	252;221;252	ENSP00000336800:S252N;ENSP00000444739:S252N	ENSP00000336800:S252N	S	-	2	0	KLHL25	84113291	0.000000	0.05858	0.001000	0.08648	0.780000	0.44128	1.048000	0.30379	0.219000	0.20840	0.456000	0.33151	AGC		0.647	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		T	86312287	C	T	86312287	3	4	45	1	0	0	0	0	1	0	0	0	8382	797	28	2	1018	2	KLHL25	15	86312287	Missense_Mutation	SNP	C	TCGA-A3-3323-01A-01D-0966-08	11947188	86312287	16219105	43	3333											
TMEM8A	58986	hgsc.bcm.edu	37	16	422040	422041	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr16:422040_422041insG	ENST00000431232.2	-	13	2422_2423	c.2262_2263insC	c.(2260-2265)ccctgcfs	p.C755fs	MRPL28_ENST00000389675.2_5'Flank|MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000429738.1_5'Flank|TMEM8A_ENST00000250930.3_Frame_Shift_Ins_p.C562fs	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	755					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TGATAGTGGCAGGGGAATTTCT	0.634																																																0																																										SO:0001589	frameshift_variant	58986			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2263dupC	16.37:g.422044_422044dupG	ENSP00000401338:p.Cys755fs		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Frame_Shift_Ins	INS	ENST00000431232.2	37	CCDS10407.1																																																																																				0.634	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		G	422041	-	G	422040	7	5	45	1	0	1	1	0	0	0	0	0	16219	188	7	0	56	0	TMEM8A	16	422040	Frame_Shift_Ins	INS	-	TCGA-A3-3323-01A-01D-0966-08		422040	89932713	44	3334											
CRYM	1428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21272606	21272606	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr16:21272606G>T	ENST00000219599.3	-	9	1114	c.849C>A	c.(847-849)caC>caA	p.H283Q	CRYM_ENST00000415987.2_Missense_Mutation_p.H241Q|CRYM_ENST00000396023.2_Missense_Mutation_p.H283Q|CRYM_ENST00000543948.1_Missense_Mutation_p.H283Q	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	283					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		TCTTCTCACAGTGGGCTGGTT	0.507																																																0													161	131	141					16																	21272606		2199	4300	6499	SO:0001583	missense	1428				CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"thiomorpholine-carboxylate dehydrogenase"	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.849C>A	16.37:g.21272606G>T	ENSP00000219599:p.His283Gln		D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069363	0.36470	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.49	1.0	0.19881	NAD(P)-binding domain (1);	0.689601	0.15312	N	0.269013	T	0.51398	0.1672	N	0.10916	0.065	0.31584	N	0.654701	B	0.02656	0.0	B	0.01281	0.0	T	0.52719	-0.8538	10	0.54805	T	0.06	-15.8893	6.8747	0.24141	0.1801:0.4234:0.3965:0.0	.	283	Q14894	CRYM_HUMAN	Q	283;283;283;241	ENSP00000440227:H283Q;ENSP00000219599:H283Q;ENSP00000379341:H283Q;ENSP00000390928:H241Q	ENSP00000219599:H283Q	H	-	3	2	CRYM	21180107	0.706000	0.27856	0.997000	0.53966	0.996000	0.88848	0.934000	0.28910	0.685000	0.31468	0.655000	0.94253	CAC		0.507	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			T	21272606	G	T	21272606	3	4	45	1	0	0	0	0	1	0	0	0	3923	1020	36	4	103	4	CRYM	16	21272606	Missense_Mutation	SNP	G	TCGA-A3-3323-01A-01D-0966-08	20850566	21272606	69082147	45	3335											
USP22	23326	broad.mit.edu;ucsc.edu	37	17	20931913	20931913	+	Silent	SNP	G	G	A			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr17:20931913G>A	ENST00000261497.4	-	2	449	c.246C>T	c.(244-246)ttC>ttT	p.F82F	USP22_ENST00000537526.2_Silent_p.F70F|USP22_ENST00000455117.2_5'UTR	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	82					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TGAAACAGCCGAAGAAGACAC	0.552																																																0													79	82	81					17																	20931913		1998	4168	6166	SO:0001819	synonymous_variant	23326			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.246C>T	17.37:g.20931913G>A			A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	ENST00000261497.4	37	CCDS42285.1																																																																																				0.552	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			A	20931913	G	A	20931913	2	1	45	1	0	0	0	0	0	0	0	1	17059	1049	37	1		1	USP22	17	20931913	Silent	SNP	G	TCGA-A3-3323-01A-01D-0966-08		20931913	60263297	46	3336											
AFG3L2	10939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	12367034	12367034	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr18:12367034A>T	ENST00000269143.3	-	5	713	c.482T>A	c.(481-483)tTg>tAg	p.L161*		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	161					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CTTGAGCAGCAAGTAAAACAT	0.463																																																0													107	101	103					18																	12367034		2203	4300	6503	SO:0001587	stop_gained	10939			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.482T>A	18.37:g.12367034A>T	ENSP00000269143:p.Leu161*		Q6P1L0	Nonsense_Mutation	SNP	ENST00000269143.3	37	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	A	39	7.718240	0.98450	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	.	.	.	5.72	5.72	0.89469	.	0.090154	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-1.9294	15.9898	0.80197	1.0:0.0:0.0:0.0	.	.	.	.	X	161;176	.	ENSP00000269143:L161X	L	-	2	0	AFG3L2	12357034	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.753000	0.62183	2.182000	0.69389	0.533000	0.62120	TTG		0.463	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		T	12367034	A	T	12367034	4	4	45	1	0	0	0	0	0	1	0	0	360	131	5	5	1963	5	AFG3L2	18	12367034	Nonsense_Mutation	SNP	A	TCGA-A3-3323-01A-01D-0966-08		12367034	65710214	47	3337											
SERPINB13	5275	hgsc.bcm.edu;ucsc.edu	37	18	61255961	61255961	+	Frame_Shift_Del	DEL	G	G	-	rs35760977|rs143447794		TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr18:61255961delG	ENST00000344731.5	+	2	162	c.60delG	c.(58-60)aagfs	p.K21fs	SERPINB13_ENST00000269489.5_Frame_Shift_Del_p.K21fs	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	21					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAGAGCTGAAGAAAACAAATG	0.488																																																0													96	93	94					18																	61255961		2203	4300	6503	SO:0001589	frameshift_variant	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.60delG	18.37:g.61255961delG	ENSP00000341584:p.Lys21fs		A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Frame_Shift_Del	DEL	ENST00000344731.5	37	CCDS11985.1																																																																																				0.488	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		-	61255961	G	-	61255961	7	5	45	1	0	1	0	1	0	0	0	0	14106	933	33	0	62	0	SERPINB13	18	61255961	Frame_Shift_Del	DEL	G	TCGA-A3-3323-01A-01D-0966-08	48888927	61255961	16821287	48	3338											
ZNF653	115950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11596575	11596575	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr19:11596575T>C	ENST00000293771.5	-	7	1602	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ATGCACAAGATTGACGTGGTT	0.562																																					Pancreas(83;980 1446 4542 6441 43352)											0													199	169	179					19																	11596575		2203	4300	6503	SO:0001583	missense	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1466A>G	19.37:g.11596575T>C	ENSP00000293771:p.Asn489Ser		Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348165	0.82132	.	.	ENSG00000161914	ENST00000293771	T	0.27557	1.66	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.59436	1.845	0.58432	D	0.999997	D	0.69078	0.997	D	0.75020	0.985	T	0.53457	-0.8436	10	0.72032	D	0.01	-65.4624	14.4764	0.67548	0.0:0.0:0.0:1.0	.	489	Q96CK0	ZN653_HUMAN	S	489	ENSP00000293771:N489S	ENSP00000293771:N489S	N	-	2	0	ZNF653	11457575	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.257000	0.78362	2.135000	0.66039	0.459000	0.35465	AAT		0.562	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		C	11596575	T	C	11596575	3	2	45	1	0	0	0	0	1	0	0	0	18071	1493	52	3	393	3	ZNF653	19	11596575	Missense_Mutation	SNP	T	TCGA-A3-3323-01A-01D-0966-08		11596575	47532408	49	3339											
ZFP82	284406	hgsc.bcm.edu;ucsc.edu	37	19	36884285	36884292	+	Frame_Shift_Del	DEL	AAAGGCCT	AAAGGCCT	-	rs370159081		TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	AAAGGCCT	AAAGGCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr19:36884285_36884292delAAAGGCCT	ENST00000392161.3	-	5	1192_1199	c.950_957delAGGCCTTT	c.(949-957)aaggcctttfs	p.KAF317fs	ZFP82_ENST00000392171.1_Frame_Shift_Del_p.KAF317fs	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCCACACAAAAAGGCCTTCCCACATTC	0.452																																																0																																										SO:0001589	frameshift_variant	284406			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.950_957delAGGCCTTT	19.37:g.36884285_36884292delAAAGGCCT	ENSP00000431265:p.Lys317fs		Q8NC63|Q8TF53	Frame_Shift_Del	DEL	ENST00000392161.3	37	CCDS12493.1																																																																																				0.452	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		-	36884292	AAAGGCCT	-	36884285	7	5	45	1	0	1	0	1	0	0	0	0	17658	11	1	0	645	0	ZFP82	19	36884285	Frame_Shift_Del	DEL	AAAGGCCT	TCGA-A3-3323-01A-01D-0966-08	25287710	36884285	22244698	50	3340											
TTYH1	57348	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54942314	54942314	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3323-01A-01D-0966-08	TCGA-A3-3323-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21c50574-7496-4be5-b723-1fdb980fb208	2c1405f2-a53e-43b2-843e-eebbfe8074fe	g.chr19:54942314C>G	ENST00000376530.3	+	10	1173	c.1070C>G	c.(1069-1071)aCa>aGa	p.T357R	TTYH1_ENST00000301194.4_Missense_Mutation_p.T357R|TTYH1_ENST00000376531.3_Missense_Mutation_p.T357R|TTYH1_ENST00000391739.3_Missense_Mutation_p.D387E|TTYH1_ENST00000489425.1_3'UTR|AC008746.3_ENST00000457113.1_RNA	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	357					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTGAATGTGACAGAAGGAAAT	0.617																																																0													96	90	92					19																	54942314		2203	4300	6503	SO:0001583	missense	57348			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.1070C>G	19.37:g.54942314C>G	ENSP00000365713:p.Thr357Arg		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	CCDS12893.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.31|19.31	3.802634|3.802634	0.70682|0.70682	.|.	.|.	ENSG00000167614|ENSG00000167614	ENST00000391739|ENST00000301194;ENST00000376530;ENST00000376531	T|T;T;T	0.24723|0.15603	1.84|2.41;2.41;2.41	4.07|4.07	4.07|4.07	0.47477|0.47477	.|.	.|0.122750	.|0.53938	.|D	.|0.000052	T|T	0.41351|0.41351	0.1155|0.1155	M|M	0.75615|0.75615	2.305|2.305	0.24118|0.24118	N|N	0.995812|0.995812	B|D;D;D;D	0.26002|0.89917	0.139|1.0;1.0;1.0;0.999	B|D;D;D;D	0.22601|0.83275	0.04|0.995;0.988;0.988;0.996	T|T	0.17137|0.17137	-1.0379|-1.0379	9|10	0.10902|0.72032	T|D	0.67|0.01	-9.7568|-9.7568	14.152|14.152	0.65392|0.65392	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	387|269;357;357;357	B7Z1H9|Q9H313-5;Q9H313-2;Q9H313-3;Q9H313	.|.;.;.;TTYH1_HUMAN	E|R	387|357	ENSP00000375619:D387E|ENSP00000301194:T357R;ENSP00000365713:T357R;ENSP00000365714:T357R	ENSP00000375619:D387E|ENSP00000301194:T357R	D|T	+|+	3|2	2|0	TTYH1|TTYH1	59634126|59634126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.924000|5.924000	0.70054|0.70054	2.254000|2.254000	0.74563|0.74563	0.561000|0.561000	0.74099|0.74099	GAC|ACA		0.617	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			G	54942314	C	G	54942314	3	3	45	1	0	0	0	0	1	0	0	0	16744	478	17	4	1108	4	TTYH1	19	54942314	Missense_Mutation	SNP	C	TCGA-A3-3323-01A-01D-0966-08	18058029	54942314	4186669	51	3341											
UBR4	23352	broad.mit.edu;hgsc.bcm.edu	37	1	19505691	19505691	+	Silent	SNP	T	T	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:19505691T>C	ENST00000375254.3	-	18	2235	c.2208A>G	c.(2206-2208)ggA>ggG	p.G736G	UBR4_ENST00000375217.2_Silent_p.G736G|UBR4_ENST00000375226.2_Silent_p.G736G|UBR4_ENST00000375267.2_Silent_p.G736G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	736					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G736G(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGGAGCCACTCCTAGCTGCT	0.473																																																1	Substitution - coding silent(1)	kidney(1)											66	64	65					1																	19505691		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2208A>G	1.37:g.19505691T>C			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.473	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19505691	T	C	19505691	2	2	46	1	0	0	0	0	0	0	0	1	16909	1538	54	3		3	UBR4	1	19505691	Silent	SNP	T	TCGA-A3-3326-01A-01D-0966-08		19505691	229744930	1	3342											
SERINC2	347735	hgsc.bcm.edu	37	1	31902299	31902300	+	Frame_Shift_Ins	INS	-	-	G	rs371191938		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:31902299_31902300insG	ENST00000373709.3	+	8	1077_1078	c.927_928insG	c.(928-930)ggcfs	p.G310fs	SERINC2_ENST00000373710.1_Frame_Shift_Ins_p.G319fs|AC114494.1_ENST00000596131.1_Frame_Shift_Ins_p.C106fs|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Frame_Shift_Ins_p.G314fs|SERINC2_ENST00000536384.1_Frame_Shift_Ins_p.G314fs	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	310					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CAGTTGTGGCAGGCCCCGAGGG	0.599																																																0																																										SO:0001589	frameshift_variant	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.929dupG	1.37:g.31902301_31902301dupG	ENSP00000362813:p.Gly310fs		A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Frame_Shift_Ins	INS	ENST00000373709.3	37	CCDS30662.1																																																																																				0.599	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		G	31902300	-	G	31902299	7	5	46	1	0	1	1	0	0	0	0	0	14086	175	7	0	957	0	SERINC2	1	31902299	Frame_Shift_Ins	INS	-	TCGA-A3-3326-01A-01D-0966-08	12396608	31902299	217348322	2	3343											
BTF3L4	91408	broad.mit.edu;hgsc.bcm.edu	37	1	52552415	52552415	+	Silent	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:52552415G>A	ENST00000313334.8	+	6	730	c.462G>A	c.(460-462)aaG>aaA	p.K154K	BTF3L4_ENST00000489308.2_3'UTR|BTF3L4_ENST00000472944.2_Silent_p.K96K	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	154								p.K154K(1)		endometrium(2)|kidney(1)|large_intestine(2)	5						AGGCATCAAAGAATGAAGCTA	0.323																																																1	Substitution - coding silent(1)	kidney(1)											65	68	67					1																	52552415		2203	4296	6499	SO:0001819	synonymous_variant	91408			BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.462G>A	1.37:g.52552415G>A			B3KNJ1|D3DQ32|G3V1C6	Silent	SNP	ENST00000313334.8	37	CCDS30713.1																																																																																				0.323	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024848.1	NM_152265		A	52552415	G	A	52552415	2	1	46	1	0	0	0	0	0	0	0	1	1554	933	33	2		2	BTF3L4	1	52552415	Silent	SNP	G	TCGA-A3-3326-01A-01D-0966-08	20650116	52552415	196698206	3	3344											
LCE1E	353135	hgsc.bcm.edu	37	1	152760113	152760115	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	ACT	ACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:152760113_152760115delACT	ENST00000368770.3	+	2	391_393	c.338_340delACT	c.(337-342)cactct>cct	p.113_114HS>P	LCE1E_ENST00000368771.1_In_Frame_Del_p.113_114HS>P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	113	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCGGCCAGCACTCTGGAGGCTG	0.601																																																0																																										SO:0001651	inframe_deletion	353135			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.338_340delACT	1.37:g.152760113_152760115delACT	ENSP00000357759:p.His113_Ser114delinsPro		D3DV30	In_Frame_Del	DEL	ENST00000368770.3	37	CCDS1024.1																																																																																				0.601	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		-	152760115	ACT	-	152760113	7	5	46	1	0	1	0	1	0	0	0	0	8665	159	6	0	340	0	LCE1E	1	152760113	In_Frame_Del	DEL	ACT	TCGA-A3-3326-01A-01D-0966-08	100207698	152760113	96490508	4	3345											
DCST2	127579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154995893	154995893	+	Silent	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:154995893G>A	ENST00000368424.3	-	13	1969	c.1911C>T	c.(1909-1911)acC>acT	p.T637T		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	637						integral component of membrane (GO:0016021)		p.T637T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACACGGAGCAGGTATTGTCCA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											62	73	70					1																	154995893		2202	4299	6501	SO:0001819	synonymous_variant	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1911C>T	1.37:g.154995893G>A			Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	CCDS1082.2																																																																																				0.602	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		A	154995893	G	A	154995893	2	1	46	1	0	0	0	0	0	0	0	1	4305	987	35	2		2	DCST2	1	154995893	Silent	SNP	G	TCGA-A3-3326-01A-01D-0966-08	2235780	154995893	94254728	5	3346											
GON4L	54856	broad.mit.edu;hgsc.bcm.edu	37	1	155721637	155721637	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:155721637G>C	ENST00000368331.1	-	31	6545	c.6497C>G	c.(6496-6498)aCc>aGc	p.T2166S	GON4L_ENST00000437809.1_Missense_Mutation_p.T2165S|GON4L_ENST00000271883.5_Missense_Mutation_p.T2165S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2166	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T2166S(1)|p.T2165S(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGGCACATGGTGAGGATCAC	0.537																																																2	Substitution - Missense(2)	kidney(2)											55	51	52					1																	155721637		1981	4159	6140	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.6497C>G	1.37:g.155721637G>C	ENSP00000357315:p.Thr2166Ser		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	G	26.9	4.777593	0.90195	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.11277	2.79;2.79;2.79	4.97	4.97	0.65823	SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);MYB-like (1);	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	L	0.51422	1.61	0.51482	D	0.999929	D;D	0.71674	0.997;0.998	D;D	0.76071	0.97;0.987	T	0.00677	-1.1614	10	0.62326	D	0.03	.	18.0848	0.89454	0.0:0.0:1.0:0.0	.	2166;2165	Q3T8J9;Q3T8J9-3	GON4L_HUMAN;.	S	2165;2166;2165	ENSP00000396117:T2165S;ENSP00000357315:T2166S;ENSP00000271883:T2165S	ENSP00000271883:T2165S	T	-	2	0	GON4L	153988261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.235000	0.78143	2.602000	0.87976	0.644000	0.83932	ACC		0.537	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		C	155721637	G	C	155721637	3	2	46	1	0	0	0	0	1	0	0	0	6574	1261	44	4	236	4	GON4L	1	155721637	Missense_Mutation	SNP	G	TCGA-A3-3326-01A-01D-0966-08	725744	155721637	93528984	6	3347											
PAPPA2	60676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	176659299	176659299	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr1:176659299T>C	ENST00000367662.3	+	5	3328	c.2164T>C	c.(2164-2166)Tat>Cat	p.Y722H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.Y722H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	722	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y722H(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGCATATTATGGGATGCC	0.443																																																2	Substitution - Missense(2)	kidney(2)											108	102	104					1																	176659299		2060	4239	6299	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2164T>C	1.37:g.176659299T>C	ENSP00000356634:p.Tyr722His		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286594	0.59867	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.80738	-1.41;1.41	5.23	5.23	0.72850	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.124325	0.56097	D	0.000025	D	0.88662	0.6497	M	0.71296	2.17	0.47123	D	0.999326	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.89775	0.3957	10	0.66056	D	0.02	-19.9974	14.7777	0.69743	0.0:0.0:0.0:1.0	.	722;722	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	H	722	ENSP00000356634:Y722H;ENSP00000356633:Y722H	ENSP00000356633:Y722H	Y	+	1	0	PAPPA2	174925922	1.000000	0.71417	0.980000	0.43619	0.107000	0.19398	7.927000	0.87577	1.963000	0.57068	0.460000	0.39030	TAT		0.443	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			C	176659299	T	C	176659299	3	2	46	1	0	0	0	0	1	0	0	0	11435	1754	61	3	2178	3	PAPPA2	1	176659299	Missense_Mutation	SNP	T	TCGA-A3-3326-01A-01D-0966-08	20937662	176659299	72591322	7	3348											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179593688	179593688	+	Silent	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr2:179593688A>G	ENST00000591111.1	-	63	18350	c.18126T>C	c.(18124-18126)agT>agC	p.S6042S	TTN_ENST00000342992.6_Silent_p.S5115S|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.S6359S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12833	Ig-like 41.				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)	p.S5115S(1)		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)			TATATCTCCCACTGTGTCCAT	0.378																																																1	Substitution - coding silent(1)	kidney(1)											71	65	67					2																	179593688		1918	4139	6057	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18126T>C	2.37:g.179593688A>G			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179593688	A	G	179593688	2	3	46	1	0	0	0	0	0	0	0	1	16740	156	6	3		3	TTN	2	179593688	Silent	SNP	A	TCGA-A3-3326-01A-01D-0966-08		179593688	63605685	8	3349											
COL5A2	1290	hgsc.bcm.edu;ucsc.edu	37	2	189925460	189925464	+	Frame_Shift_Del	DEL	TCACC	TCACC	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	TCACC	TCACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr2:189925460_189925464delTCACC	ENST00000374866.3	-	31	2351_2355	c.2077_2081delGGTGA	c.(2077-2082)ggtgatfs	p.GD693fs		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	693					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACTTACTTGATCACCTGGTTTTCCA	0.385																																																0																																										SO:0001589	frameshift_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2077_2081delGGTGA	2.37:g.189925460_189925464delTCACC	ENSP00000364000:p.Gly693fs		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Frame_Shift_Del	DEL	ENST00000374866.3	37	CCDS33350.1																																																																																				0.385	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		-	189925464	TCACC	-	189925460	7	5	46	1	0	1	0	1	0	0	0	0	3699	1435	50	0	2514	0	COL5A2	2	189925460	Frame_Shift_Del	DEL	TCACC	TCGA-A3-3326-01A-01D-0966-08	10331772	189925460	53273913	9	3350											
COL4A3	1285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228176506	228176506	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr2:228176506C>T	ENST00000396578.3	+	52	5095	c.4933C>T	c.(4933-4935)Cct>Tct	p.P1645S	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1645	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.A1587V(1)|p.P1645S(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTCAGAAAGCCTATTCCATC	0.299																																																2	Substitution - Missense(2)	kidney(2)											49	49	49					2																	228176506		1792	4062	5854	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4933C>T	2.37:g.228176506C>T	ENSP00000379823:p.Pro1645Ser		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.255978|4.255978	0.80246|0.80246	.|.	.|.	ENSG00000169031|ENSG00000169031	ENST00000328380|ENST00000396578	.|D	.|0.98105	.|-4.72	6.08|6.08	6.08|6.08	0.98989|0.98989	.|C-type lectin fold (1);	.|0.000000	.|0.64402	.|D	.|0.000009	D|D	0.99032|0.99032	0.9669|0.9669	M|M	0.89658|0.89658	3.05|3.05	0.80722|0.80722	D|D	1|1	B|D	0.29988|0.89917	0.264|1.0	B|D	0.28011|0.91635	0.085|0.999	D|D	0.99075|0.99075	1.0835|1.0835	8|9	0.87932|.	D|.	0|.	.|.	20.6634|20.6634	0.99662|0.99662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1587|1645	Q01955-2|Q01955	.|CO4A3_HUMAN	V|S	1587|1645	.|ENSP00000379823:P1645S	ENSP00000327594:A1587V|.	A|P	+|+	2|1	0|0	COL4A3|COL4A3	227884750|227884750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.456000|7.456000	0.80751|0.80751	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.299	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		T	228176506	C	T	228176506	3	4	46	1	0	0	0	0	1	0	0	0	3693	739	26	2	5139	2	COL4A3	2	228176506	Missense_Mutation	SNP	C	TCGA-A3-3326-01A-01D-0966-08	38251046	228176506	15022867	10	3351											
NGLY1	55768	broad.mit.edu;hgsc.bcm.edu	37	3	25824816	25824816	+	Silent	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr3:25824816C>T	ENST00000280700.5	-	1	226	c.66G>A	c.(64-66)caG>caA	p.Q22Q	NGLY1_ENST00000428257.1_Silent_p.Q22Q|NGLY1_ENST00000396649.3_Silent_p.Q22Q|NGLY1_ENST00000417874.2_Intron	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	22					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.Q22Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CCGGGGTGTTCTGGCAGAGCT	0.706																																																1	Substitution - coding silent(1)	kidney(1)											21	19	20					3																	25824816		2202	4300	6502	SO:0001819	synonymous_variant	55768			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.66G>A	3.37:g.25824816C>T			B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Silent	SNP	ENST00000280700.5	37	CCDS33719.1																																																																																				0.706	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			T	25824816	C	T	25824816	2	4	46	1	0	0	0	0	0	0	0	1	10400	912	32	2		2	NGLY1	3	25824816	Silent	SNP	C	TCGA-A3-3326-01A-01D-0966-08		25824816	172197614	11	3352											
BSN	8927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49690033	49690033	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr3:49690033G>A	ENST00000296452.4	+	5	3158	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1015					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.R1015H(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGCAGGCAGCGTCTAGAAGAA	0.657																																																1	Substitution - Missense(1)	kidney(1)											30	32	32					3																	49690033		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3044G>A	3.37:g.49690033G>A	ENSP00000296452:p.Arg1015His		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560464	0.45590	.	.	ENSG00000164061	ENST00000296452	T	0.19938	2.11	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.68952	2.095	0.36813	D	0.885983	D	0.89917	1.0	D	0.64410	0.925	T	0.48906	-0.8993	10	0.44086	T	0.13	.	18.673	0.91518	0.0:0.0:1.0:0.0	.	1015	Q9UPA5	BSN_HUMAN	H	1015	ENSP00000296452:R1015H	ENSP00000296452:R1015H	R	+	2	0	BSN	49665037	1.000000	0.71417	0.987000	0.45799	0.910000	0.53928	5.607000	0.67648	2.413000	0.81919	0.561000	0.74099	CGT		0.657	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49690033	G	A	49690033	3	1	46	1	0	0	0	0	1	0	0	0	1532	1145	40	1	3062	1	BSN	3	49690033	Missense_Mutation	SNP	G	TCGA-A3-3326-01A-01D-0966-08	23865217	49690033	148332397	12	3353											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52597379	52597379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr3:52597379delC	ENST00000296302.7	-	24	4007	c.4006delG	c.(4006-4008)gtcfs	p.V1336fs	RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.V1351fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.V1336fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.V1351fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.V1311fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.V1336fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.V1304fs|PBRM1_ENST00000394830.3_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1	1336					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGTTCAATGACCTCACTATCT	0.498			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													156	132	140					3																	52597379		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4006delG	3.37:g.52597379delC	ENSP00000296302:p.Val1336fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.498	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52597379	C	-	52597379	7	5	46	1	0	1	0	1	0	0	0	0	11493	521	18	0	922	0	PBRM1	3	52597379	Frame_Shift_Del	DEL	C	TCGA-A3-3326-01A-01D-0966-08	2907346	52597379	145425051	13	3354											
MYH15	22989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	108205348	108205348	+	Silent	SNP	G	G	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr3:108205348G>C	ENST00000273353.3	-	11	1013	c.957C>G	c.(955-957)ccC>ccG	p.P319P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	319	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P319P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGAAGTCTGAGGGATTTGCAG	0.433																																																1	Substitution - coding silent(1)	kidney(1)											84	84	84					3																	108205348		1882	4112	5994	SO:0001819	synonymous_variant	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.957C>G	3.37:g.108205348G>C				Silent	SNP	ENST00000273353.3	37	CCDS43127.1																																																																																				0.433	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		C	108205348	G	C	108205348	2	2	46	1	0	0	0	0	0	0	0	1	10036	987	35	4		4	MYH15	3	108205348	Silent	SNP	G	TCGA-A3-3326-01A-01D-0966-08	55607969	108205348	89817082	14	3355											
KPNA1	3836	broad.mit.edu;ucsc.edu	37	3	122160886	122160886	+	Splice_Site	SNP	T	T	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr3:122160886T>C	ENST00000344337.6	-	10	1171	c.995A>G	c.(994-996)cAg>cGg	p.Q332R	KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000609469.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	332	Binding to RAG1.|NLS binding site (minor). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.Q332R(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TCTTCATACCTGTGTCTGAAT	0.333																																					Melanoma(12;340 801 11196 19797)											1	Substitution - Missense(1)	kidney(1)											186	196	193					3																	122160886		2203	4300	6503	SO:0001630	splice_region_variant	3836			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.996+1A>G	3.37:g.122160886T>C			D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.935013	0.92458	.	.	ENSG00000114030	ENST00000344337	T	0.70516	-0.49	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89121	0.6625	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92550	0.6049	10	0.87932	D	0	-8.3517	14.3589	0.66757	0.0:0.0:0.0:1.0	.	332	P52294	IMA1_HUMAN	R	332	ENSP00000343701:Q332R	ENSP00000343701:Q332R	Q	-	2	0	KPNA1	123643576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.841000	0.86834	2.175000	0.68902	0.533000	0.62120	CAG		0.333	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264	Missense_Mutation	C	122160886	T	C	122160886	5	2	46	1	0	0	0	0	0	0	1	0	8431	1594	55	3	641	3	KPNA1	3	122160886	Splice_Site	SNP	T	TCGA-A3-3326-01A-01D-0966-08	13955538	122160886	75861544	15	3356											
CDH10	1008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	24491776	24491776	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr5:24491776C>T	ENST00000264463.4	-	11	2292	c.1785G>A	c.(1783-1785)atG>atA	p.M595I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	595	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M595I(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCAGGATTGCATGTTGCCTT	0.532										HNSCC(23;0.051)																																						1	Substitution - Missense(1)	kidney(1)											156	135	142					5																	24491776		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1785G>A	5.37:g.24491776C>T	ENSP00000264463:p.Met595Ile		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586922	0.46110	.	.	ENSG00000040731	ENST00000264463	T	0.53857	0.6	5.89	5.89	0.94794	Cadherin (1);	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	L	0.46670	1.46	0.58432	D	0.999997	B	0.11235	0.004	B	0.15484	0.013	T	0.42258	-0.9462	10	0.10636	T	0.68	.	19.2409	0.93883	0.0:1.0:0.0:0.0	.	595	Q9Y6N8	CAD10_HUMAN	I	595	ENSP00000264463:M595I	ENSP00000264463:M595I	M	-	3	0	CDH10	24527533	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.773000	0.85462	2.788000	0.95919	0.557000	0.71058	ATG		0.532	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		T	24491776	C	T	24491776	3	4	46	1	0	0	0	0	1	0	0	0	3098	710	25	2	589	2	CDH10	5	24491776	Missense_Mutation	SNP	C	TCGA-A3-3326-01A-01D-0966-08		24491776	156423484	16	3357											
KDM3B	51780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137708520	137708520	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr5:137708520G>T	ENST00000314358.5	+	2	550	c.350G>T	c.(349-351)tGg>tTg	p.W117L		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	117					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.W117L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATTGCACAATGGCCAGCCCTG	0.502																																																1	Substitution - Missense(1)	kidney(1)											57	55	56					5																	137708520		2203	4300	6503	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.350G>T	5.37:g.137708520G>T	ENSP00000326563:p.Trp117Leu		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417639	0.83449	.	.	ENSG00000120733	ENST00000314358	T	0.68331	-0.32	4.96	4.96	0.65561	.	0.180678	0.52532	D	0.000068	T	0.81148	0.4762	M	0.73217	2.22	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.82699	-0.0328	10	0.62326	D	0.03	-14.0823	18.3858	0.90466	0.0:0.0:1.0:0.0	.	117	Q7LBC6	KDM3B_HUMAN	L	117	ENSP00000326563:W117L	ENSP00000326563:W117L	W	+	2	0	KDM3B	137736419	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.167000	0.64972	2.582000	0.87167	0.563000	0.77884	TGG		0.502	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		T	137708520	G	T	137708520	3	4	46	1	0	0	0	0	1	0	0	0	8129	1357	47	4	356	4	KDM3B	5	137708520	Missense_Mutation	SNP	G	TCGA-A3-3326-01A-01D-0966-08	113216744	137708520	43206740	17	3358											
FAT2	2196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150945790	150945790	+	Silent	SNP	T	T	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr5:150945790T>C	ENST00000261800.5	-	1	2715	c.2703A>G	c.(2701-2703)aaA>aaG	p.K901K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	901	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K901K(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGTGGCCTTTGCTGGGCT	0.542																																																1	Substitution - coding silent(1)	kidney(1)											83	75	77					5																	150945790		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2703A>G	5.37:g.150945790T>C			O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.542	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		C	150945790	T	C	150945790	2	2	46	1	0	0	0	0	0	0	0	1	5692	1606	56	3		3	FAT2	5	150945790	Silent	SNP	T	TCGA-A3-3326-01A-01D-0966-08	13237270	150945790	29969470	18	3359											
MAK	4117	hgsc.bcm.edu	37	6	10796273	10796274	+	Frame_Shift_Ins	INS	-	-	G	rs141174473		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:10796273_10796274insG	ENST00000313243.2	-	9	1482_1483	c.1100_1101insC	c.(1099-1101)ccgfs	p.P367fs	RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000536370.1_3'UTR|MAK_ENST00000538030.1_Frame_Shift_Ins_p.P367fs|MAK_ENST00000354489.2_Frame_Shift_Ins_p.P367fs|MAK_ENST00000474039.1_Frame_Shift_Ins_p.P367fs|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	367	Glu/Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCGTTTGTGGCGGTTTCTCCTG	0.5																																																0																																										SO:0001589	frameshift_variant	4117				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1101dupC	6.37:g.10796275_10796275dupG	ENSP00000313021:p.Pro367fs		F1T0K6|G1FL29|Q547D0|Q9NUH7	Frame_Shift_Ins	INS	ENST00000313243.2	37	CCDS4516.1																																																																																				0.5	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		G	10796274	-	G	10796273	7	5	46	1	0	1	1	0	0	0	0	0	9199	755	27	0	794	0	MAK	6	10796273	Frame_Shift_Ins	INS	-	TCGA-A3-3326-01A-01D-0966-08		10796273	160318794	19	3360											
NRSN1	140767	hgsc.bcm.edu;ucsc.edu	37	6	24145877	24145877	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:24145877delT	ENST00000378491.4	+	4	592	c.291delT	c.(289-291)gatfs	p.D97fs		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCGAAGCCGATTTTGTGGTGG	0.507																																																0													103	94	97					6																	24145877		2203	4300	6503	SO:0001589	frameshift_variant	140767			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"vesicular membrane protein p24"	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.291delT	6.37:g.24145877delT	ENSP00000367752:p.Asp97fs			Frame_Shift_Del	DEL	ENST00000378491.4	37	CCDS4549.1																																																																																				0.507	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		-	24145877	T	-	24145877	7	5	46	1	0	1	0	1	0	0	0	0	10664	1490	52	0	297	0	NRSN1	6	24145877	Frame_Shift_Del	DEL	T	TCGA-A3-3326-01A-01D-0966-08	13349604	24145877	146969190	20	3361											
RPL10A	4736	hgsc.bcm.edu	37	6	35437244	35437247	+	Frame_Shift_Del	DEL	CCCA	CCCA	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	CCCA	CCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:35437244_35437247delCCCA	ENST00000322203.6	+	4	275_278	c.248_251delCCCA	c.(247-252)ccccacfs	p.PH83fs	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	83					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						GTGGATATCCCCCACATGGACATC	0.544																																																0																																										SO:0001589	frameshift_variant	4736			U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.248_251delCCCA	6.37:g.35437244_35437247delCCCA	ENSP00000363018:p.Pro83fs		B2R801|P52859|P53025|Q5TZT6|Q8J013	Frame_Shift_Del	DEL	ENST00000322203.6	37	CCDS4806.1																																																																																				0.544	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		-	35437247	CCCA	-	35437244	7	5	46	1	0	1	0	1	0	0	0	0	13561	623	22	0	262	0	RPL10A	6	35437244	Frame_Shift_Del	DEL	CCCA	TCGA-A3-3326-01A-01D-0966-08	11291367	35437244	135677823	21	3362											
TBCC	6903	broad.mit.edu;hgsc.bcm.edu	37	6	42713803	42713803	+	Silent	SNP	G	G	A	rs537953279		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:42713803G>A	ENST00000372876.1	-	1	31	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TBCC_ENST00000244625.2_Silent_p.S3S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	3					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.S3S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCAACTGACGGACTCCATAT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		12523	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											41	42	41					6																	42713803		2202	4299	6501	SO:0001819	synonymous_variant	6903			U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"tubulin-specific chaperone c"			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.9C>T	6.37:g.42713803G>A			Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	CCDS4872.1																																																																																				0.617	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		A	42713803	G	A	42713803	2	1	46	1	0	0	0	0	0	0	0	1	15636	1103	39	1		1	TBCC	6	42713803	Silent	SNP	G	TCGA-A3-3326-01A-01D-0966-08	7276559	42713803	128401264	22	3363											
ME1	4199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	83963360	83963360	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:83963360C>T	ENST00000369705.3	-	7	918	c.802G>A	c.(802-804)Gat>Aat	p.D268N	ME1_ENST00000541327.1_Missense_Mutation_p.D102N|ME1_ENST00000543031.1_Missense_Mutation_p.D193N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	268					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.D268N(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TGAATATCATCATTGAATGTG	0.303																																																1	Substitution - Missense(1)	kidney(1)											151	134	139					6																	83963360		2203	4299	6502	SO:0001583	missense	4199			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.802G>A	6.37:g.83963360C>T	ENSP00000358719:p.Asp268Asn		B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274162	0.95459	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.55413	0.52;0.52;0.52	5.53	5.53	0.82687	Malic enzyme, conserved site (1);Malic enzyme, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	H	0.99877	4.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91956	0.5575	10	0.87932	D	0	-23.913	18.2288	0.89927	0.0:1.0:0.0:0.0	.	268	P48163	MAOX_HUMAN	N	268;102;193	ENSP00000358719:D268N;ENSP00000439912:D102N;ENSP00000446114:D193N	ENSP00000358719:D268N	D	-	1	0	ME1	84020079	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.777000	0.85628	2.602000	0.87976	0.460000	0.39030	GAT		0.303	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			T	83963360	C	T	83963360	3	4	46	1	0	0	0	0	1	0	0	0	9419	826	29	2	948	2	ME1	6	83963360	Missense_Mutation	SNP	C	TCGA-A3-3326-01A-01D-0966-08	41249557	83963360	87151707	23	3364											
TMEM181	57583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	159029391	159029391	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr6:159029391G>A	ENST00000367090.3	+	9	1122	c.1111G>A	c.(1111-1113)Gtc>Atc	p.V371I		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	371					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)	p.V371I(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CTCCTTCCTGGTCAACAGCTG	0.577																																																1	Substitution - Missense(1)	kidney(1)											110	110	110					6																	159029391		2126	4240	6366	SO:0001583	missense	57583			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1111G>A	6.37:g.159029391G>A	ENSP00000356057:p.Val371Ile		Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033669	0.75504	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.44482	0.92	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	L	0.45137	1.4	0.80722	D	1	P	0.35383	0.498	B	0.28709	0.093	T	0.04360	-1.0957	10	0.33141	T	0.24	.	12.1041	0.53803	0.0833:0.0:0.9167:0.0	.	371	Q9P2C4	TM181_HUMAN	I	278;371	ENSP00000356057:V371I	ENSP00000323755:V278I	V	+	1	0	TMEM181	158949379	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.758000	0.68776	2.577000	0.86979	0.650000	0.86243	GTC		0.577	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		A	159029391	G	A	159029391	3	1	46	1	0	0	0	0	1	0	0	0	16105	1261	44	2	1145	2	TMEM181	6	159029391	Missense_Mutation	SNP	G	TCGA-A3-3326-01A-01D-0966-08	75066031	159029391	12085676	24	3365											
TMEM195	392636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	15405181	15405181	+	Frame_Shift_Del	DEL	A	A	-	rs76463825	byFrequency	TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr7:15405181delA	ENST00000342526.3	-	12	1390	c.1221delT	c.(1219-1221)ggtfs	p.G407fs		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	407					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GCTTCAGGTGACCAAATCGGT	0.393																																																0													115	104	108					7																	15405181		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1221delT	7.37:g.15405181delA	ENSP00000341662:p.Gly407fs		A4D114|A6NCH5	Frame_Shift_Del	DEL	ENST00000342526.3	37	CCDS34604.1																																																																																				0.393	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		-	15405181	A	-	15405181	7	5	46	1	0	1	0	1	0	0	0	0	16122	262	10	0	124	0	TMEM195	7	15405181	Frame_Shift_Del	DEL	A	TCGA-A3-3326-01A-01D-0966-08		15405181	143733482	25	3366											
ZNF679	168417	broad.mit.edu;ucsc.edu	37	7	63726378	63726378	+	Missense_Mutation	SNP	T	T	A	rs371012818		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr7:63726378T>A	ENST00000421025.1	+	5	636	c.367T>A	c.(367-369)Tta>Ata	p.L123I	ZNF679_ENST00000255746.4_Missense_Mutation_p.L123I	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L123I(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACATGACAATTTACAAGTAAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											167	146	152					7																	63726378		692	1591	2283	SO:0001583	missense	168417			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.367T>A	7.37:g.63726378T>A	ENSP00000416809:p.Leu123Ile			Missense_Mutation	SNP	ENST00000421025.1	37	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.780034	0.31502	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.06371	3.31;3.31	0.819	-0.517	0.11947	.	.	.	.	.	T	0.17109	0.0411	M	0.73598	2.24	0.09310	N	1	D	0.69078	0.997	D	0.72625	0.978	T	0.12344	-1.0551	9	0.62326	D	0.03	.	2.6224	0.04920	0.0:0.4716:0.0:0.5284	.	123	Q8IYX0	ZN679_HUMAN	I	123	ENSP00000416809:L123I;ENSP00000255746:L123I	ENSP00000255746:L123I	L	+	1	2	ZNF679	63363813	0.001000	0.12720	0.039000	0.18376	0.039000	0.13416	-0.411000	0.07142	0.165000	0.19558	0.163000	0.16589	TTA		0.368	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		A	63726378	T	A	63726378	3	1	46	1	0	0	0	0	1	0	0	0	18091	1838	64	5	381	5	ZNF679	7	63726378	Missense_Mutation	SNP	T	TCGA-A3-3326-01A-01D-0966-08	48321197	63726378	95412285	26	3367											
TRPV6	55503	broad.mit.edu;ucsc.edu	37	7	142572835	142572835	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr7:142572835A>G	ENST00000359396.3	-	9	1450	c.1205T>C	c.(1204-1206)gTa>gCa	p.V402A	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	402					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.V402A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCTCACCTCTACCAGCAGGAT	0.562																																																1	Substitution - Missense(1)	kidney(1)											141	128	133					7																	142572835		2203	4300	6503	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1205T>C	7.37:g.142572835A>G	ENSP00000352358:p.Val402Ala		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614658	0.28712	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.85484	-1.99;-1.99	4.74	3.47	0.39725	.	0.639808	0.15421	N	0.263224	T	0.64057	0.2564	N	0.03608	-0.345	0.19775	N	0.999952	B	0.02656	0.0	B	0.08055	0.003	T	0.48980	-0.8986	10	0.09590	T	0.72	-0.9255	8.6178	0.33842	0.8934:0.0:0.1066:0.0	.	402	Q9H1D0	TRPV6_HUMAN	A	402;234;25	ENSP00000352358:V402A;ENSP00000411100:V25A	ENSP00000310825:V234A	V	-	2	0	TRPV6	142282957	0.550000	0.26489	0.039000	0.18376	0.822000	0.46500	5.500000	0.66943	0.804000	0.34136	0.459000	0.35465	GTA		0.562	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		G	142572835	A	G	142572835	3	3	46	1	0	0	0	0	1	0	0	0	16605	391	14	3	1000	3	TRPV6	7	142572835	Missense_Mutation	SNP	A	TCGA-A3-3326-01A-01D-0966-08	78846457	142572835	16565828	27	3368											
ZNF425	155054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148801994	148801994	+	Silent	SNP	C	C	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr7:148801994C>G	ENST00000378061.2	-	4	1101	c.969G>C	c.(967-969)ctG>ctC	p.L323L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	323					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L323L(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCCGCTGTGCAGCCGCAAGT	0.662																																																1	Substitution - coding silent(1)	kidney(1)											37	35	35					7																	148801994		2203	4300	6503	SO:0001819	synonymous_variant	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.969G>C	7.37:g.148801994C>G			B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	CCDS34773.1																																																																																				0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		G	148801994	C	G	148801994	2	3	46	1	0	0	0	0	0	0	0	1	17904	697	25	4		4	ZNF425	7	148801994	Silent	SNP	C	TCGA-A3-3326-01A-01D-0966-08	6229159	148801994	10336669	28	3369											
ABP1	26	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150554284	150554284	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr7:150554284C>A	ENST00000493429.1	+	4	1310	c.726C>A	c.(724-726)ttC>ttA	p.F242L	AOC1_ENST00000416793.2_Missense_Mutation_p.F242L|AOC1_ENST00000467291.1_Missense_Mutation_p.F242L|AOC1_ENST00000360937.4_Missense_Mutation_p.F242L			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	242					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.F242L(1)								Amiloride(DB00594)	ACGGGAAGTTCTATGGGAGCC	0.622																																																1	Substitution - Missense(1)	kidney(1)											63	71	68					7																	150554284		2079	4205	6284	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.726C>A	7.37:g.150554284C>A	ENSP00000418614:p.Phe242Leu		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	8.789	0.929998	0.18131	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	4.74	4.74	0.60224	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.443324	0.26688	N	0.023005	T	0.12518	0.0304	L	0.34521	1.04	0.37481	D	0.916002	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.08994	-1.0695	10	0.34782	T	0.22	-7.6839	8.7648	0.34696	0.0:0.8998:0.0:0.1002	.	242;242	C9J690;P19801	.;ABP1_HUMAN	L	242;242;242;242;242;118;242	ENSP00000418614:F242L;ENSP00000418328:F242L;ENSP00000418557:F242L;ENSP00000354193:F242L;ENSP00000411613:F242L;ENSP00000417392:F242L	ENSP00000354193:F242L	F	+	3	2	ABP1	150185217	1.000000	0.71417	0.998000	0.56505	0.383000	0.30230	0.787000	0.26858	2.460000	0.83146	0.561000	0.74099	TTC		0.622	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		A	150554284	C	A	150554284	3	1	46	1	0	0	0	0	1	0	0	0	98	912	32	4	728	4	ABP1	7	150554284	Missense_Mutation	SNP	C	TCGA-A3-3326-01A-01D-0966-08	1752290	150554284	8584379	29	3370											
BLK	640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	11412944	11412944	+	Silent	SNP	C	C	G	rs149756811		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr8:11412944C>G	ENST00000259089.4	+	8	1315	c.723C>G	c.(721-723)ctC>ctG	p.L241L	RP11-148O21.4_ENST00000528629.1_RNA|RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Silent_p.L170L|RP11-148O21.6_ENST00000602626.1_lincRNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.L241L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GGCAGTCTCTCAGGCTGGTCA	0.637																																																1	Substitution - coding silent(1)	kidney(1)											94	96	95					8																	11412944		2203	4300	6503	SO:0001819	synonymous_variant	640			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.723C>G	8.37:g.11412944C>G			Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	CCDS5982.1																																																																																				0.637	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			G	11412944	C	G	11412944	2	3	46	1	0	0	0	0	0	0	0	1	1444	813	29	4		4	BLK	8	11412944	Silent	SNP	C	TCGA-A3-3326-01A-01D-0966-08		11412944	134951078	30	3371											
FAM135B	51059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	139190851	139190851	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr8:139190851G>T	ENST00000395297.1	-	10	1126	c.956C>A	c.(955-957)aCc>aAc	p.T319N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	319								p.T319N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGAACTGGGTCCACAGAGT	0.532										HNSCC(54;0.14)																																						2	Substitution - Missense(2)	kidney(2)											134	134	134					8																	139190851		2050	4203	6253	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.956C>A	8.37:g.139190851G>T	ENSP00000378710:p.Thr319Asn		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027113	0.35797	.	.	ENSG00000147724	ENST00000395297	T	0.79033	-1.23	5.26	5.26	0.73747	.	0.119478	0.56097	D	0.000024	D	0.82664	0.5086	L	0.60455	1.87	0.38425	D	0.946287	D	0.71674	0.998	D	0.67900	0.954	T	0.79174	-0.1912	10	0.15066	T	0.55	-22.2067	12.466	0.55759	0.0:0.1687:0.8313:0.0	.	319	Q49AJ0	F135B_HUMAN	N	319	ENSP00000378710:T319N	ENSP00000276737:T319N	T	-	2	0	FAM135B	139260033	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	5.860000	0.69546	2.616000	0.88540	0.561000	0.74099	ACC		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		T	139190851	G	T	139190851	3	4	46	1	0	0	0	0	1	0	0	0	5451	1261	44	4	3308	4	FAM135B	8	139190851	Missense_Mutation	SNP	G	TCGA-A3-3326-01A-01D-0966-08	127777907	139190851	7173171	31	3372											
INSC	387755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	15170770	15170770	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:15170770G>A	ENST00000379554.3	+	2	237	c.191G>A	c.(190-192)gGt>gAt	p.G64D	INSC_ENST00000525218.1_Missense_Mutation_p.G17D|INSC_ENST00000379556.3_Missense_Mutation_p.G17D|INSC_ENST00000530161.1_Missense_Mutation_p.G17D|INSC_ENST00000528567.1_Missense_Mutation_p.G17D|INSC_ENST00000424273.1_Missense_Mutation_p.G17D	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	64					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.G64D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGCCGGGTCAGCGGTAA	0.617																																																1	Substitution - Missense(1)	kidney(1)											43	43	43					11																	15170770		2200	4294	6494	SO:0001583	missense	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.191G>A	11.37:g.15170770G>A	ENSP00000368872:p.Gly64Asp		A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	6.767	0.510385	0.12883	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.31769	1.5;1.51;1.5;1.48;1.51;1.5	4.99	4.06	0.47325	.	0.313767	0.29410	N	0.012229	T	0.25082	0.0609	N	0.22421	0.69	0.25398	N	0.98847	B;B;B;B	0.25904	0.078;0.042;0.137;0.009	B;B;B;B	0.38500	0.079;0.275;0.093;0.01	T	0.24693	-1.0153	10	0.40728	T	0.16	-14.5039	8.33	0.32180	0.1079:0.0:0.8921:0.0	.	17;17;17;64	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	D	64;17;17;17;17;17;17	ENSP00000368872:G64D;ENSP00000368874:G17D;ENSP00000389161:G17D;ENSP00000435022:G17D;ENSP00000436194:G17D;ENSP00000436113:G17D	ENSP00000368872:G64D	G	+	2	0	INSC	15127346	0.995000	0.38212	0.584000	0.28653	0.393000	0.30537	1.899000	0.39818	1.299000	0.44798	0.561000	0.74099	GGT		0.617	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		A	15170770	G	A	15170770	3	1	46	1	0	0	0	0	1	0	0	0	7766	1261	44	2	197	2	INSC	11	15170770	Missense_Mutation	SNP	G	TCGA-A3-3326-01A-01D-0966-08		15170770	119835746	32	3373											
WT1	7490	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32421532	32421532	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:32421532A>T	ENST00000379079.2	-	6	697	c.424T>A	c.(424-426)Tac>Aac	p.Y142N	WT1_ENST00000332351.3_Missense_Mutation_p.Y354N|WT1_ENST00000448076.3_Missense_Mutation_p.Y354N|WT1_ENST00000530998.1_Missense_Mutation_p.Y125N	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	286					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Y142D(1)|p.Y142N(1)|p.Y286D(1)|p.Y286N(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGTATTCTGTATTGGGCTCCG	0.577			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	4	Substitution - Missense(4)	lung(2)|kidney(2)											283	235	252					11																	32421532		2202	4299	6501	SO:0001583	missense	7490	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.424T>A	11.37:g.32421532A>T	ENSP00000368370:p.Tyr142Asn		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.84|18.84	3.708376|3.708376	0.68615|0.68615	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	.|D;D;D;D;D;D	.|0.89810	.|-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Wilm&apos (1);s tumour protein, N-terminal (1);	.|0.000000	.|0.64402	.|U	.|0.000008	D|D	0.93337|0.93337	0.7876|0.7876	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;0.999	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;0.999;0.999;0.999	D|D	0.93801|0.93801	0.7101|0.7101	5|10	.|0.72032	.|D	.|0.01	.|.	16.4781|16.4781	0.84144|0.84144	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|342;286;359;125;142	.|P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.|.;WT1_HUMAN;.;.;.	K|N	44|142;354;125;337;354;105	.|ENSP00000368370:Y142N;ENSP00000331327:Y354N;ENSP00000435307:Y125N;ENSP00000415516:Y337N;ENSP00000413452:Y354N;ENSP00000435351:Y105N	.|ENSP00000331327:Y354N	I|Y	-|-	2|1	0|0	WT1|WT1	32378108|32378108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.113000|0.113000	0.19764|0.19764	8.495000|8.495000	0.90481|0.90481	2.288000|2.288000	0.76882|0.76882	0.528000|0.528000	0.53228|0.53228	ATA|TAC		0.577	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		T	32421532	A	T	32421532	3	4	46	1	0	0	0	0	1	0	0	0	17413	449	16	5	513	5	WT1	11	32421532	Missense_Mutation	SNP	A	TCGA-A3-3326-01A-01D-0966-08	17250762	32421532	102584984	33	3374											
ZFP91	80829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	58384897	58384897	+	Silent	SNP	C	C	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:58384897C>A	ENST00000316059.6	+	11	1602	c.1431C>A	c.(1429-1431)ggC>ggA	p.G477G	ZFP91-CNTF_ENST00000389919.4_Silent_p.G477G	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	477					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.G477G(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATATCTTGGGCACTAACCCAG	0.557																																																2	Substitution - coding silent(2)	kidney(2)											63	58	60					11																	58384897		2201	4295	6496	SO:0001819	synonymous_variant	80829			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1431C>A	11.37:g.58384897C>A			A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Silent	SNP	ENST00000316059.6	37	CCDS31553.1																																																																																				0.557	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		A	58384897	C	A	58384897	2	1	46	1	0	0	0	0	0	0	0	1	17660	697	25	4		4	ZFP91	11	58384897	Silent	SNP	C	TCGA-A3-3326-01A-01D-0966-08	25963365	58384897	76621619	34	3375											
MS4A3	932	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	59837676	59837676	+	Splice_Site	SNP	G	G	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:59837676G>A	ENST00000278865.3	+	7	688		c.e7-1		MS4A3_ENST00000358152.2_Splice_Site|MS4A3_ENST00000534744.1_Splice_Site|MS4A3_ENST00000395032.2_Splice_Site	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.?(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TTATTTTCTAGGAAATTTCCT	0.363																																																1	Unknown(1)	kidney(1)											211	184	193					11																	59837676		2200	4294	6494	SO:0001630	splice_region_variant	932			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.616-1G>A	11.37:g.59837676G>A			A8MTP8|Q8NHW2	Splice_Site	SNP	ENST00000278865.3	37	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	6.670	0.492250	0.12702	.	.	ENSG00000149516	ENST00000395032;ENST00000358152;ENST00000278865;ENST00000534744	.	.	.	3.41	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.32750	N	0.5065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5377	0.22363	0.1333:0.0:0.8667:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MS4A3	59594252	0.844000	0.29557	0.140000	0.22221	0.066000	0.16364	1.987000	0.40687	1.016000	0.39470	0.643000	0.83706	.		0.363	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1		Intron	A	59837676	G	A	59837676	5	1	46	1	0	0	0	0	0	0	1	0	9863	1014	35	2	637	2	MS4A3	11	59837676	Splice_Site	SNP	G	TCGA-A3-3326-01A-01D-0966-08	1452779	59837676	75168840	35	3376											
HSPA8	3312	broad.mit.edu;hgsc.bcm.edu	37	11	122930668	122930668	+	Silent	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:122930668A>G	ENST00000532636.1	-	5	752	c.633T>C	c.(631-633)acT>acC	p.T211T	HSPA8_ENST00000534624.1_Silent_p.T211T|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Silent_p.T192T|HSPA8_ENST00000534319.1_5'UTR|SNORD14D_ENST00000384390.1_RNA|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000453788.2_Silent_p.T211T|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000227378.3_Silent_p.T211T|HSPA8_ENST00000533540.1_Intron			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	211	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.T211T(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CATCCTCAATAGTGAGGATTG	0.428																																					Colon(21;486 594 5900 6733 14272)											1	Substitution - coding silent(1)	kidney(1)											40	42	41					11																	122930668		2202	4299	6501	SO:0001819	synonymous_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.633T>C	11.37:g.122930668A>G			Q9H3R6	Silent	SNP	ENST00000532636.1	37	CCDS8440.1																																																																																				0.428	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			G	122930668	A	G	122930668	2	3	46	1	0	0	0	0	0	0	0	1	7418	407	15	3		3	HSPA8	11	122930668	Silent	SNP	A	TCGA-A3-3326-01A-01D-0966-08	63092992	122930668	12075848	36	3377											
ARHGAP32	9743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	128839969	128839969	+	Silent	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr11:128839969C>T	ENST00000310343.9	-	22	5096	c.5097G>A	c.(5095-5097)aaG>aaA	p.K1699K	ARHGAP32_ENST00000392657.3_Silent_p.K1350K|ARHGAP32_ENST00000527272.1_Silent_p.K1350K|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1699	Interaction with FYN.|Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.K1350K(1)|p.K1699K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGTACAAGCTCTTTCCTTGCA	0.537																																																2	Substitution - coding silent(2)	kidney(2)											92	85	88					11																	128839969		2201	4297	6498	SO:0001819	synonymous_variant	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5097G>A	11.37:g.128839969C>T			I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	CCDS44769.1																																																																																				0.537	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		T	128839969	C	T	128839969	2	4	46	1	0	0	0	0	0	0	0	1	881	912	32	2		2	ARHGAP32	11	128839969	Silent	SNP	C	TCGA-A3-3326-01A-01D-0966-08	5909301	128839969	6166547	37	3378											
PML	5371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	74336686	74336686	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr15:74336686C>G	ENST00000268058.3	+	9	2082	c.1986C>G	c.(1984-1986)ttC>ttG	p.F662L	PML_ENST00000565898.1_Missense_Mutation_p.F614L	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	662					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F662L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGCAGCACTTCCTCAGCTTTC	0.602			T	"RARA, PAX5"	"APL, ALL"																																		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	1	Substitution - Missense(1)	kidney(1)											67	64	65					15																	74336686		2198	4297	6495	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1986C>G	15.37:g.74336686C>G	ENSP00000268058:p.Phe662Leu		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219280	0.39201	.	.	ENSG00000140464	ENST00000268058;ENST00000417341	T	0.60299	0.2	5.31	4.4	0.53042	.	0.229124	0.31358	N	0.007788	T	0.44435	0.1293	N	0.24115	0.695	0.80722	D	1	P;P	0.46142	0.615;0.873	B;P	0.45639	0.142;0.488	T	0.34527	-0.9825	10	0.37606	T	0.19	-27.9476	7.2745	0.26275	0.0:0.7405:0.1706:0.0888	.	662;614	P29590;P29590-11	PML_HUMAN;.	L	662;223	ENSP00000268058:F662L	ENSP00000268058:F662L	F	+	3	2	PML	72123739	0.992000	0.36948	0.983000	0.44433	0.912000	0.54170	0.889000	0.28282	1.470000	0.48102	0.655000	0.94253	TTC		0.602	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		G	74336686	C	G	74336686	3	3	46	1	0	0	0	0	1	0	0	0	12137	854	30	4	3037	4	PML	15	74336686	Missense_Mutation	SNP	C	TCGA-A3-3326-01A-01D-0966-08		74336686	28194706	38	3379											
NAT15	79903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3533548	3533549	+	Missense_Mutation	DNP	TT	TT	CA			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr16:3533548_3533549TT>CA	ENST00000407558.4	+	6	826_827	c.523_524TT>CA	c.(523-525)TTc>CAc	p.F175H	NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000608722.1_Missense_Mutation_p.F175H|NAA60_ENST00000608993.1_Missense_Mutation_p.F110H|NAA60_ENST00000414063.2_Missense_Mutation_p.F175H|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000424546.2_Missense_Mutation_p.F182H|NAA60_ENST00000573580.1_Missense_Mutation_p.F110H|NAA60_ENST00000575076.1_Missense_Mutation_p.F175H|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000610180.1_Missense_Mutation_p.F175H|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000572584.1_Missense_Mutation_p.F175H|NAA60_ENST00000360862.5_Missense_Mutation_p.F110H|LA16c-306E5.3_ENST00000574423.2_RNA			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	175	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)	p.F175>?(1)|p.F175L(1)|p.F175Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CAAAGATGGCTTCACCTATGTC	0.49																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	0				CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"N(alpha)-acetyltransferase subunits"	25875	protein-coding gene	gene with protein product		614246	"N-acetyltransferase 15 (GCN5-related, putative)"	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	Exception_encountered	16.37:g.3533548_3533549delinsCA	ENSP00000385903:p.Phe175His		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	ENST00000407558.4	37	CCDS45396.1																																																																																				0.49	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2	NM_024845		CA	3533549	TT	CA	3533548	3	2	46	1	0	0	0	0	1	0	0	0	10178	1609	56	3	537	3	NAT15	16	3533548	Missense_Mutation	DNP	TT	TCGA-A3-3326-01A-01D-0966-08		3533548	86821205	39	3380											
ANKS4B	257629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21261382	21261382	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr16:21261382C>G	ENST00000311620.5	+	2	568	c.495C>G	c.(493-495)taC>taG	p.Y165*		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	165					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)		p.Y165*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CCCACACCTACAGCAAGGAGG	0.522																																																1	Substitution - Nonsense(1)	kidney(1)											74	76	75					16																	21261382		2020	4183	6203	SO:0001587	stop_gained	257629			AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.495C>G	16.37:g.21261382C>G	ENSP00000308772:p.Tyr165*			Nonsense_Mutation	SNP	ENST00000311620.5	37	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275037	0.59649	.	.	ENSG00000175311	ENST00000311620	.	.	.	5.77	1.58	0.23477	.	0.342508	0.31438	N	0.007646	.	.	.	.	.	.	0.53005	D	0.999968	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5719	8.3784	0.32457	0.0:0.6126:0.0:0.3874	.	.	.	.	X	165	.	ENSP00000308772:Y165X	Y	+	3	2	ANKS4B	21168883	0.210000	0.23517	0.267000	0.24556	0.589000	0.36550	-0.431000	0.06965	0.066000	0.16515	-0.218000	0.12543	TAC		0.522	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		G	21261382	C	G	21261382	4	3	46	1	0	0	0	0	0	1	0	0	691	489	17	4	501	4	ANKS4B	16	21261382	Nonsense_Mutation	SNP	C	TCGA-A3-3326-01A-01D-0966-08	17727834	21261382	69093371	40	3381											
GTF3C1	2975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27497454	27497454	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr16:27497454C>A	ENST00000356183.4	-	24	3737	c.3722G>T	c.(3721-3723)aGc>aTc	p.S1241I	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1241I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1241					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.S1241I(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGCCTTTTGCTTTTTTCTCC	0.567																																																1	Substitution - Missense(1)	kidney(1)											185	178	181					16																	27497454		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3722G>T	16.37:g.27497454C>A	ENSP00000348510:p.Ser1241Ile		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115989	0.37339	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24538	1.85	5.27	-3.82	0.04281	.	0.444420	0.27932	N	0.017262	T	0.14874	0.0359	L	0.40543	1.245	0.19300	N	0.999979	B;B	0.15141	0.004;0.012	B;B	0.14578	0.007;0.011	T	0.11036	-1.0604	10	0.37606	T	0.19	-2.3769	5.9434	0.19205	0.0:0.2894:0.3494:0.3612	.	1241;1241	Q12789;Q12789-3	TF3C1_HUMAN;.	I	1241;1237	ENSP00000348510:S1241I	ENSP00000348510:S1241I	S	-	2	0	GTF3C1	27404955	0.005000	0.15991	0.001000	0.08648	0.933000	0.57130	-1.029000	0.03585	-0.632000	0.05553	0.462000	0.41574	AGC		0.567	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		A	27497454	C	A	27497454	3	1	46	1	0	0	0	0	1	0	0	0	6874	797	28	4	2663	4	GTF3C1	16	27497454	Missense_Mutation	SNP	C	TCGA-A3-3326-01A-01D-0966-08	6236072	27497454	62857299	41	3382											
CHST4	10164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71570851	71570851	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr16:71570851C>T	ENST00000338482.5	+	3	614	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.H91Y|CHST4_ENST00000572450.1_Missense_Mutation_p.H91Y|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	91					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.H91Y(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CTGGATGCTGCACATGGCTGT	0.582																																																1	Substitution - Missense(1)	kidney(1)											90	93	92					16																	71570851		2198	4300	6498	SO:0001583	missense	10164			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.271C>T	16.37:g.71570851C>T	ENSP00000341206:p.His91Tyr		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563360	0.45694	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.81579	-1.51;-1.51	6.0	4.02	0.46733	Sulfotransferase domain (1);	0.255560	0.40469	N	0.001085	D	0.89336	0.6686	M	0.84082	2.675	0.36553	D	0.871995	D	0.64830	0.994	D	0.68943	0.961	D	0.91807	0.5456	10	0.49607	T	0.09	-8.1299	14.822	0.70080	0.0:0.726:0.274:0.0	.	91	Q8NCG5	CHST4_HUMAN	Y	91	ENSP00000341206:H91Y;ENSP00000441204:H91Y	ENSP00000341206:H91Y	H	+	1	0	CHST4	70128352	1.000000	0.71417	0.992000	0.48379	0.030000	0.12068	2.479000	0.45197	0.842000	0.35045	-0.176000	0.13171	CAC		0.582	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		T	71570851	C	T	71570851	3	4	46	1	0	0	0	0	1	0	0	0	3408	710	25	2	273	2	CHST4	16	71570851	Missense_Mutation	SNP	C	TCGA-A3-3326-01A-01D-0966-08	44073397	71570851	18783902	42	3383											
SMCR8	140775	broad.mit.edu;ucsc.edu	37	17	18219186	18219186	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr17:18219186A>G	ENST00000406438.3	+	1	563	c.83A>G	c.(82-84)gAg>gGg	p.E28G	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	28						nucleus (GO:0005634)		p.E28G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GCCCTGCCTGAGGAGTACTCG	0.527																																																1	Substitution - Missense(1)	kidney(1)											86	88	88					17																	18219186		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.83A>G	17.37:g.18219186A>G	ENSP00000385025:p.Glu28Gly		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150562	0.78001	.	.	ENSG00000176994	ENST00000406438	T	0.27890	1.64	6.11	6.11	0.99139	.	0.162074	0.53938	D	0.000052	T	0.43831	0.1265	L	0.29908	0.895	0.58432	D	0.999996	D	0.76494	0.999	D	0.67548	0.952	T	0.26224	-1.0109	10	0.45353	T	0.12	-25.586	16.7021	0.85357	1.0:0.0:0.0:0.0	.	28	Q8TEV9	SMCR8_HUMAN	G	28	ENSP00000385025:E28G	ENSP00000385025:E28G	E	+	2	0	SMCR8	18159911	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	8.706000	0.91362	2.343000	0.79666	0.533000	0.62120	GAG		0.527	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		G	18219186	A	G	18219186	3	3	46	1	0	0	0	0	1	0	0	0	14798	304	11	3	85	3	SMCR8	17	18219186	Missense_Mutation	SNP	A	TCGA-A3-3326-01A-01D-0966-08		18219186	62976024	43	3384											
CYTSB	92521	broad.mit.edu;ucsc.edu	37	17	20108270	20108270	+	Missense_Mutation	SNP	A	A	G	rs367950456		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr17:20108270A>G	ENST00000261503.5	+	4	959	c.908A>G	c.(907-909)aAc>aGc	p.N303S	SPECC1_ENST00000395525.3_Missense_Mutation_p.N222S|SPECC1_ENST00000395527.4_Missense_Mutation_p.N303S|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.N222S|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395529.3_Missense_Mutation_p.N303S|SPECC1_ENST00000395530.2_Missense_Mutation_p.N222S	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	303	Ser-rich.				cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.N303S(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TATAAAAAAAACATACATGGA	0.453																																																1	Substitution - Missense(1)	kidney(1)						A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	81	88	86		908,665,665,908	-3.8	0	17		86	0,8600		0,0,4300	no	missense,missense,missense,missense	SPECC1	NM_001033553.2,NM_001033554.2,NM_001033555.2,NM_152904.4	46,46,46,46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign,benign,benign	303/1069,222/710,222/988,303/791	20108270	1,13005	2203	4300	6503	SO:0001583	missense	0			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.908A>G	17.37:g.20108270A>G	ENSP00000261503:p.Asn303Ser		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	A	3.548	-0.092315	0.07053	2.27E-4	0.0	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.62498	0.02;3.01;3.01;3.01	5.38	-3.8	0.04307	.	1.662880	0.02661	N	0.107515	T	0.49915	0.1585	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.002;0.002;0.002;0.001	B;B;B;B;B	0.09377	0.004;0.003;0.003;0.003;0.004	T	0.30416	-0.9979	10	0.26408	T	0.33	-2.3443	9.1654	0.37048	0.334:0.524:0.142:0.0	.	303;222;222;303;303	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	S	303;303;303;222;222;222	ENSP00000261503:N303S;ENSP00000378900:N303S;ENSP00000378893:N222S;ENSP00000378896:N222S	ENSP00000261503:N303S	N	+	2	0	SPECC1	20048862	0.000000	0.05858	0.000000	0.03702	0.426000	0.31534	-0.500000	0.06405	-0.506000	0.06558	0.533000	0.62120	AAC		0.453	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		G	20108270	A	G	20108270	3	3	46	1	0	0	0	0	1	0	0	0	4212	43	2	3	962	3	CYTSB	17	20108270	Missense_Mutation	SNP	A	TCGA-A3-3326-01A-01D-0966-08	1889084	20108270	61086940	44	3385											
CNTNAP1	8506	broad.mit.edu;hgsc.bcm.edu	37	17	40836243	40836243	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr17:40836243A>G	ENST00000264638.4	+	3	576	c.359A>G	c.(358-360)aAc>aGc	p.N120S	CCR10_ENST00000591765.1_5'Flank|CCR10_ENST00000332438.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	120	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.N120S(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CGAGGGCACAACTCGGTACTC	0.607																																																1	Substitution - Missense(1)	kidney(1)											93	94	93					17																	40836243		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.359A>G	17.37:g.40836243A>G	ENSP00000264638:p.Asn120Ser			Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733072	0.69189	.	.	ENSG00000108797	ENST00000264638	D	0.97186	-4.28	5.42	5.42	0.78866	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000003	D	0.96873	0.8979	L	0.35593	1.075	0.45097	D	0.998112	D	0.76494	0.999	D	0.70487	0.969	D	0.96197	0.9142	10	0.29301	T	0.29	.	15.1306	0.72520	1.0:0.0:0.0:0.0	.	120	P78357	CNTP1_HUMAN	S	120	ENSP00000264638:N120S	ENSP00000264638:N120S	N	+	2	0	CNTNAP1	38089769	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	6.779000	0.75057	2.063000	0.61619	0.379000	0.24179	AAC		0.607	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		G	40836243	A	G	40836243	3	3	46	1	0	0	0	0	1	0	0	0	3648	43	2	3	369	3	CNTNAP1	17	40836243	Missense_Mutation	SNP	A	TCGA-A3-3326-01A-01D-0966-08	20727973	40836243	40358967	45	3386											
MKS1	54903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56285343	56285343	+	Silent	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr17:56285343A>G	ENST00000393119.2	-	14	1259	c.1185T>C	c.(1183-1185)ccT>ccC	p.P395P	MKS1_ENST00000313863.6_Silent_p.P395P|MKS1_ENST00000546108.1_Silent_p.P192P|MKS1_ENST00000537529.2_Silent_p.P385P|MKS1_ENST00000337050.7_Silent_p.P395P	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	395	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.P395P(2)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGTAGAGCACAGGCCACTCCG	0.622																																																2	Substitution - coding silent(2)	kidney(2)											48	57	54					17																	56285343		2119	4230	6349	SO:0001819	synonymous_variant	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1185T>C	17.37:g.56285343A>G			B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	A	9.728	1.161497	0.21538	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.58	-0.594	0.11664	.	.	.	.	.	T	0.43853	0.1266	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	-15.4908	4.1824	0.10381	0.3582:0.0:0.3687:0.273	.	.	.	.	P	396	.	.	L	-	2	0	MKS1	53640342	0.328000	0.24687	0.997000	0.53966	0.903000	0.53119	-0.259000	0.08721	-0.176000	0.10707	-0.509000	0.04479	CTG		0.622	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		G	56285343	A	G	56285343	2	3	46	1	0	0	0	0	0	0	0	1	9611	175	7	3		3	MKS1	17	56285343	Silent	SNP	A	TCGA-A3-3326-01A-01D-0966-08	15449100	56285343	24909867	46	3387											
CACNG4	27092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65021007	65021007	+	Silent	SNP	C	C	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr17:65021007C>T	ENST00000262138.3	+	3	338	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	112					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.I112I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCTTCCCCATCCTCAGCACCA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											111	98	103					17																	65021007		2203	4300	6503	SO:0001819	synonymous_variant	27092			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.336C>T	17.37:g.65021007C>T			B2RCK0	Silent	SNP	ENST00000262138.3	37	CCDS11667.1																																																																																				0.652	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		T	65021007	C	T	65021007	2	4	46	1	0	0	0	0	0	0	0	1	2561	845	30	2		2	CACNG4	17	65021007	Silent	SNP	C	TCGA-A3-3326-01A-01D-0966-08	8735664	65021007	16174203	47	3388											
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	6966196	6966196	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr18:6966196T>A	ENST00000389658.3	-	49	7093	c.7000A>T	c.(7000-7002)Aat>Tat	p.N2334Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2334	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.N2334Y(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAAAAGGTATTAAAAAGCATG	0.473																																																1	Substitution - Missense(1)	kidney(1)											85	69	74					18																	6966196		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7000A>T	18.37:g.6966196T>A	ENSP00000374309:p.Asn2334Tyr			Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238455	0.39598	.	.	ENSG00000101680	ENST00000389658	T	0.79141	-1.24	5.8	5.8	0.92144	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.419743	0.27429	N	0.019419	T	0.68063	0.2960	N	0.19112	0.55	0.24501	N	0.994255	P	0.39071	0.658	B	0.41691	0.364	T	0.66842	-0.5821	10	0.87932	D	0	.	12.0649	0.53581	0.0:0.0:0.1435:0.8564	.	2334	P25391	LAMA1_HUMAN	Y	2334	ENSP00000374309:N2334Y	ENSP00000374309:N2334Y	N	-	1	0	LAMA1	6956196	1.000000	0.71417	0.096000	0.21009	0.021000	0.10359	5.330000	0.65899	2.227000	0.72691	0.460000	0.39030	AAT		0.473	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	6966196	T	A	6966196	3	1	46	1	0	0	0	0	1	0	0	0	8607	1754	61	5	2287	5	LAMA1	18	6966196	Missense_Mutation	SNP	T	TCGA-A3-3326-01A-01D-0966-08		6966196	71111052	48	3389											
ME2	4200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	48439249	48439249	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr18:48439249A>C	ENST00000321341.5	+	4	593	c.321A>C	c.(319-321)ttA>ttC	p.L107F	ME2_ENST00000382927.3_Missense_Mutation_p.L107F	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	107					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.L107F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTGAGAGTTTAATGCCAATTG	0.338																																																1	Substitution - Missense(1)	kidney(1)											136	136	136					18																	48439249		2203	4300	6503	SO:0001583	missense	4200			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.321A>C	18.37:g.48439249A>C	ENSP00000321070:p.Leu107Phe		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	9.061	0.994426	0.19043	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.31510	1.49;1.49	5.58	-8.65	0.00870	Malic enzyme, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.11965	0.0291	N	0.17248	0.465	0.54753	D	0.999982	B;B	0.21753	0.005;0.06	B;B	0.32149	0.098;0.141	T	0.20739	-1.0266	10	0.19147	T	0.46	-14.5703	4.3113	0.10972	0.2557:0.2172:0.43:0.0972	.	107;107	Q9BWL6;P23368	.;MAOM_HUMAN	F	107	ENSP00000321070:L107F;ENSP00000372384:L107F	ENSP00000321070:L107F	L	+	3	2	ME2	46693247	0.008000	0.16893	0.604000	0.28916	0.722000	0.41435	-0.748000	0.04818	-1.732000	0.01359	-0.912000	0.02778	TTA		0.338	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		C	48439249	A	C	48439249	3	2	46	1	0	0	0	0	1	0	0	0	9420	359	13	5	331	5	ME2	18	48439249	Missense_Mutation	SNP	A	TCGA-A3-3326-01A-01D-0966-08	41473053	48439249	29637999	49	3390											
MAST3	23031	broad.mit.edu	37	19	18234143	18234143	+	Silent	SNP	C	C	A			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr19:18234143C>A	ENST00000262811.6	+	6	429	c.429C>A	c.(427-429)ggC>ggA	p.G143G	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	143							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.G165G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ATGAGGAAGGCGGCCGGTCAC	0.687																																																1	Substitution - coding silent(1)	kidney(1)											26	27	27					19																	18234143		1958	4131	6089	SO:0001819	synonymous_variant	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.429C>A	19.37:g.18234143C>A			Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	CCDS46014.1																																																																																				0.687	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		A	18234143	C	A	18234143	2	1	46	1	0	0	0	0	0	0	0	1	9328	755	27	4		4	MAST3	19	18234143	Silent	SNP	C	TCGA-A3-3326-01A-01D-0966-08		18234143	40894840	50	3391											
CD22	933	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35827039	35827039	+	Silent	SNP	G	G	T	rs534159105		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr19:35827039G>T	ENST00000085219.5	+	4	579	c.513G>T	c.(511-513)ccG>ccT	p.P171P	CD22_ENST00000544992.2_Silent_p.P171P|CD22_ENST00000594250.1_Silent_p.P171P|CD22_ENST00000536635.2_Silent_p.P171P|CD22_ENST00000419549.2_Intron|CD22_ENST00000341773.6_Silent_p.P171P|CD22_ENST00000270311.6_Silent_p.P51P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	171	Ig-like C2-type 1.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.P171P(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATGGGTATCCGATCCAATTGC	0.532																																					Ovarian(42;1009 1133 23674 26041)											2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											94	98	96					19																	35827039		2203	4300	6503	SO:0001819	synonymous_variant	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.513G>T	19.37:g.35827039G>T			F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	CCDS12457.1																																																																																				0.532	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		T	35827039	G	T	35827039	2	4	46	1	0	0	0	0	0	0	0	1	2987	1045	37	4		4	CD22	19	35827039	Silent	SNP	G	TCGA-A3-3326-01A-01D-0966-08	17592896	35827039	23301944	51	3392											
ZNF773	374928	broad.mit.edu;hgsc.bcm.edu	37	19	58018037	58018037	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr19:58018037A>T	ENST00000282292.4	+	4	714	c.574A>T	c.(574-576)Aaa>Taa	p.K192*	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Nonsense_Mutation_p.K191*	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K192*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AAGGCATTACAAATGCAGTGA	0.473																																																1	Substitution - Nonsense(1)	kidney(1)											49	49	49					19																	58018037		2203	4297	6500	SO:0001587	stop_gained	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.574A>T	19.37:g.58018037A>T	ENSP00000282292:p.Lys192*		Q96DL8	Nonsense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889719	0.52014	.	.	ENSG00000152439	ENST00000282292	.	.	.	1.25	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	5.3139	0.15845	0.706:0.294:0.0:0.0	.	.	.	.	X	192	.	ENSP00000282292:K192X	K	+	1	0	ZNF773	62709849	0.000000	0.05858	0.005000	0.12908	0.636000	0.38137	-2.491000	0.00974	0.824000	0.34613	0.260000	0.18958	AAA		0.473	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		T	58018037	A	T	58018037	4	4	46	1	0	0	0	0	0	1	0	0	18151	131	5	5	588	5	ZNF773	19	58018037	Nonsense_Mutation	SNP	A	TCGA-A3-3326-01A-01D-0966-08	22190998	58018037	1110946	52	3393											
ZNFX1	57169	hgsc.bcm.edu;ucsc.edu	37	20	47864087	47864093	+	Frame_Shift_Del	DEL	AGGCCAG	AGGCCAG	-	rs368515875		TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	AGGCCAG	AGGCCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr20:47864087_47864093delAGGCCAG	ENST00000396105.1	-	14	5714_5720	c.5468_5474delCTGGCCT	c.(5467-5475)tctggcctgfs	p.SGL1823fs	ZNFX1_ENST00000469991.1_5'Flank|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Frame_Shift_Del_p.SGL1823fs	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1823							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAGATGCCCAGGCCAGAGCAGGGAAG	0.493																																																0																																										SO:0001589	frameshift_variant	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5468_5474delCTGGCCT	20.37:g.47864087_47864093delAGGCCAG	ENSP00000379412:p.Ser1823fs		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Frame_Shift_Del	DEL	ENST00000396105.1	37	CCDS13417.1																																																																																				0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		-	47864093	AGGCCAG	-	47864087	7	5	46	1	0	1	0	1	0	0	0	0	18210	188	7	0	286	0	ZNFX1	20	47864087	Frame_Shift_Del	DEL	AGGCCAG	TCGA-A3-3326-01A-01D-0966-08		47864087	15161433	53	3394											
CTCFL	140690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	56099123	56099123	+	Silent	SNP	A	A	G			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr20:56099123A>G	ENST00000608263.1	-	1	800	c.139T>C	c.(139-141)Ttg>Ctg	p.L47L	CTCFL_ENST00000609232.1_Silent_p.L47L|CTCFL_ENST00000432255.2_Silent_p.L47L|CTCFL_ENST00000481655.2_Silent_p.L47L|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000371196.2_Silent_p.L47L|CTCFL_ENST00000608440.1_Silent_p.L47L|CTCFL_ENST00000429804.3_Silent_p.L47L|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000243914.3_Silent_p.L47L|CTCFL_ENST00000422869.2_Silent_p.L47L|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000423479.3_Silent_p.L47L|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608158.1_Silent_p.L47L|CTCFL_ENST00000608425.1_Silent_p.L47L	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	47					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.L47L(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCGGCCTCCAACTCACTAGGG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											169	184	179					20																	56099123		2203	4300	6503	SO:0001819	synonymous_variant	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.139T>C	20.37:g.56099123A>G			A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	CCDS13459.1																																																																																				0.572	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		G	56099123	A	G	56099123	2	3	46	1	0	0	0	0	0	0	0	1	4003	40	2	3		3	CTCFL	20	56099123	Silent	SNP	A	TCGA-A3-3326-01A-01D-0966-08	8235036	56099123	6926397	54	3395											
PCK1	5105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	56138150	56138150	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr20:56138150delG	ENST00000319441.4	+	5	841	c.677delG	c.(676-678)agafs	p.R226fs	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Frame_Shift_Del_p.R94fs	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	226					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGACCGCAGAGAGATCATC	0.622																																																0													75	77	76					20																	56138150		2203	4300	6503	SO:0001589	frameshift_variant	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.677delG	20.37:g.56138150delG	ENSP00000319814:p.Arg226fs		A8K437|B4DT64|Q8TCA3|Q9UJD2	Frame_Shift_Del	DEL	ENST00000319441.4	37	CCDS13460.1																																																																																				0.622	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			-	56138150	G	-	56138150	7	5	46	1	0	1	0	1	0	0	0	0	11583	942	33	0	691	0	PCK1	20	56138150	Frame_Shift_Del	DEL	G	TCGA-A3-3326-01A-01D-0966-08	39027	56138150	6887370	55	3396											
BACH1	571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	30714928	30714928	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3326-01A-01D-0966-08	TCGA-A3-3326-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60ed222b-cd0c-4bc5-acd0-39f207be3289	51796640-6ad6-4052-94c3-fa285e430708	g.chr21:30714928G>T	ENST00000399921.1	+	5	2228	c.1985G>T	c.(1984-1986)gGt>gTt	p.G662V	BACH1_ENST00000286800.3_Missense_Mutation_p.G662V	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G662V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ACTCCTGATGGTGAACTGGCG	0.478																																																1	Substitution - Missense(1)	kidney(1)											81	87	85					21																	30714928		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1985G>T	21.37:g.30714928G>T	ENSP00000382805:p.Gly662Val		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509599	0.44660	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.72505	-0.66;-0.66	5.86	4.95	0.65309	.	0.227077	0.39146	N	0.001455	T	0.63379	0.2506	L	0.50333	1.59	0.21861	N	0.999501	P	0.46706	0.883	B	0.38458	0.274	T	0.60752	-0.7201	10	0.27785	T	0.31	-24.1648	16.1896	0.81977	0.0:0.2449:0.7551:0.0	.	662	O14867	BACH1_HUMAN	V	662	ENSP00000286800:G662V;ENSP00000382805:G662V	ENSP00000286800:G662V	G	+	2	0	BACH1	29636799	0.317000	0.24589	0.065000	0.19835	0.038000	0.13279	3.246000	0.51414	2.781000	0.95711	0.650000	0.86243	GGT		0.478	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		T	30714928	G	T	30714928	3	4	46	1	0	0	0	0	1	0	0	0	1283	1261	44	4	1999	4	BACH1	21	30714928	Missense_Mutation	SNP	G	TCGA-A3-3326-01A-01D-0966-08		30714928	17414967	56	3397											
PTCHD2	57540	broad.mit.edu	37	1	11561899	11561899	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:11561899G>A	ENST00000294484.6	+	2	988	c.850G>A	c.(850-852)Gac>Aac	p.D284N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.D284N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	284					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCGCGCGGCGACGCGGAGCG	0.637																																																0													20	22	22					1																	11561899		2003	4177	6180	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.850G>A	1.37:g.11561899G>A	ENSP00000294484:p.Asp284Asn		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895437	0.91962	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.27720	1.65;1.65	5.67	4.76	0.60689	.	0.156225	0.56097	N	0.000034	T	0.39410	0.1077	L	0.32530	0.975	0.48632	D	0.999685	D	0.89917	1.0	P	0.60012	0.867	T	0.14117	-1.0484	10	0.42905	T	0.14	-44.4084	13.3646	0.60676	0.0746:0.0:0.9254:0.0	.	284	Q9P2K9	PTHD2_HUMAN	N	284	ENSP00000294484:D284N;ENSP00000374226:D284N	ENSP00000294484:D284N	D	+	1	0	PTCHD2	11484486	1.000000	0.71417	0.908000	0.35775	0.988000	0.76386	5.067000	0.64357	1.405000	0.46838	0.655000	0.94253	GAC		0.637	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		A	11561899	G	A	11561899	3	1	47	1	0	0	0	0	1	0	0	0	12738	1058	37	1	852	1	PTCHD2	1	11561899	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08		11561899	237688722	1	3398											
RBBP4	5928	broad.mit.edu	37	1	33138433	33138433	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:33138433C>T	ENST00000373493.5	+	11	1302	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	RBBP4_ENST00000544435.1_Silent_p.S129S|RBBP4_ENST00000414241.3_Silent_p.S380S|RBBP4_ENST00000373485.1_Silent_p.S381S|RBBP4_ENST00000458695.2_Silent_p.S346S	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	381					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTGATTTCTCCTGGAATCCCA	0.383																																																0													94	93	93					1																	33138433		2203	4300	6503	SO:0001819	synonymous_variant	5928			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.1143C>T	1.37:g.33138433C>T			B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Silent	SNP	ENST00000373493.5	37	CCDS366.1	.	.	.	.	.	.	.	.	.	.	C	9.619	1.133394	0.21041	.	.	ENSG00000162521	ENST00000463378	.	.	.	4.84	0.768	0.18487	.	.	.	.	.	T	0.42471	0.1204	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21415	-1.0246	4	.	.	.	.	1.75	0.02970	0.1432:0.4821:0.139:0.2356	.	.	.	.	L	141	.	.	P	+	2	0	RBBP4	32911020	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	0.842000	0.27627	-0.041000	0.13558	-0.218000	0.12543	CCT		0.383	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		T	33138433	C	T	33138433	2	4	47	1	0	0	0	0	0	0	0	1	13107	668	24	2		2	RBBP4	1	33138433	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08	21576534	33138433	216112188	2	3399											
CSF3R	1441	broad.mit.edu	37	1	36937914	36937914	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:36937914G>C	ENST00000373106.1	-	8	1469	c.922C>G	c.(922-924)Cgc>Ggc	p.R308G	CSF3R_ENST00000373103.1_Missense_Mutation_p.R308G|CSF3R_ENST00000331941.5_Missense_Mutation_p.R308G|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Missense_Mutation_p.R308G|CSF3R_ENST00000361632.4_Missense_Mutation_p.R308G|CSF3R_ENST00000440588.2_Missense_Mutation_p.R308G|CSF3R_ENST00000418048.2_Missense_Mutation_p.R308G|CSF3R_ENST00000338937.5_Missense_Mutation_p.R308G	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	308	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGGATGCAGCGTATCTGCAGG	0.662																																																0													46	54	51					1																	36937914		2203	4300	6503	SO:0001583	missense	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.922C>G	1.37:g.36937914G>C	ENSP00000362198:p.Arg308Gly			Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527071	0.64860	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17	4.88	3.92	0.45320	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.81341	2.54	0.45690	D	0.998601	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.992;0.983;0.998	T	0.79220	-0.1893	10	0.87932	D	0	-27.3117	13.447	0.61146	0.0:0.0:0.8434:0.1566	.	308;308;308;308	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	G	308	ENSP00000362198:R308G;ENSP00000362196:R308G;ENSP00000362195:R308G;ENSP00000355406:R308G;ENSP00000332180:R308G;ENSP00000401588:R308G;ENSP00000345013:R308G;ENSP00000397568:R308G	ENSP00000332180:R308G	R	-	1	0	CSF3R	36710501	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	4.202000	0.58446	2.531000	0.85337	0.655000	0.94253	CGC		0.662	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		C	36937914	G	C	36937914	3	2	47	1	0	0	0	0	1	0	0	0	3939	1145	40	4	1818	4	CSF3R	1	36937914	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	3799481	36937914	212312707	3	3400											
AHCYL1	10768	broad.mit.edu	37	1	110562247	110562247	+	Splice_Site	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:110562247G>C	ENST00000369799.5	+	15	1831	c.1464G>C	c.(1462-1464)atG>atC	p.M488I	AHCYL1_ENST00000393614.4_Splice_Site_p.M441I|AHCYL1_ENST00000359172.3_Splice_Site_p.M441I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	488					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTAAGAAAATGGGTGAGTGAA	0.443																																																0													115	119	118					1																	110562247		2203	4300	6503	SO:0001630	splice_region_variant	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1465+1G>C	1.37:g.110562247G>C			B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Splice_Site	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835375	0.91117	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.75704	-0.96;-0.96;-0.96	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	N	0.17764	0.52	0.80722	D	1	P	0.45428	0.858	P	0.53006	0.715	T	0.74127	-0.3765	10	0.87932	D	0	-6.034	20.3967	0.98985	0.0:0.0:1.0:0.0	.	488	O43865	SAHH2_HUMAN	I	488;441;441	ENSP00000358814:M488I;ENSP00000352092:M441I;ENSP00000377238:M441I	ENSP00000352092:M441I	M	+	3	0	AHCYL1	110363770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.829000	0.97493	0.655000	0.94253	ATG		0.443	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1		Missense_Mutation	C	110562247	G	C	110562247	5	2	47	1	0	0	0	0	0	0	1	0	410	1362	47	4	1522	4	AHCYL1	1	110562247	Splice_Site	SNP	G	TCGA-A3-3331-01A-01W-0886-08	73624333	110562247	138688374	4	3401											
LINGO4	339398	broad.mit.edu	37	1	151775111	151775111	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:151775111G>A	ENST00000368820.3	-	2	1007	c.70C>T	c.(70-72)Cct>Tct	p.P24S		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	24						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCCTCCAGGTAGGAGGAGG	0.622																																																0													12	11	11					1																	151775111		2172	4247	6419	SO:0001583	missense	339398				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.70C>T	1.37:g.151775111G>A	ENSP00000357810:p.Pro24Ser			Missense_Mutation	SNP	ENST00000368820.3	37	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048771	0.36181	.	.	ENSG00000213171	ENST00000368820	T	0.59364	0.27	5.51	2.52	0.30459	.	0.297325	0.24561	N	0.037471	T	0.17238	0.0414	L	0.38175	1.15	0.27097	N	0.962714	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	10	0.06236	T	0.91	.	7.8136	0.29245	0.1617:0.1441:0.6942:0.0	.	24	Q6UY18	LIGO4_HUMAN	S	24	ENSP00000357810:P24S	ENSP00000357810:P24S	P	-	1	0	LINGO4	150041735	0.968000	0.33430	0.896000	0.35187	0.463000	0.32649	0.891000	0.28309	0.893000	0.36288	0.557000	0.71058	CCT		0.622	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		A	151775111	G	A	151775111	3	1	47	1	0	0	0	0	1	0	0	0	8819	1261	44	2	1715	2	LINGO4	1	151775111	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	41212864	151775111	97475510	5	3402											
FLG	2312	broad.mit.edu	37	1	152279034	152279035	+	In_Frame_Ins	INS	-	-	TGC			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:152279034_152279035insTGC	ENST00000368799.1	-	3	8362_8363	c.8327_8328insGCA	c.(8326-8328)cac>caGCAc	p.2775_2776insQ	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2775	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGATGCTGAGTGCCTGGAGCT	0.589									Ichthyosis																																							0																																										SO:0001652	inframe_insertion	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8325_8327dupGCA	1.37:g.152279035_152279037dupTGC	ENSP00000357789:p.Arg2775_His2776insGln		Q01720|Q5T583|Q9UC71	In_Frame_Ins	INS	ENST00000368799.1	37	CCDS30860.1																																																																																				0.589	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		TGC	152279035	-	TGC	152279034	7	5	47	1	0	1	1	0	0	0	0	0	5924	1020	36	0	3861	0	FLG	1	152279034	In_Frame_Ins	INS	-	TCGA-A3-3331-01A-01W-0886-08	503923	152279034	96971587	6	3403											
FLG	2312	broad.mit.edu	37	1	152285496	152285496	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:152285496G>A	ENST00000368799.1	-	3	1901	c.1866C>T	c.(1864-1866)agC>agT	p.S622S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	622	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGTCCTGGCTAACACTGG	0.547									Ichthyosis																																							0													258	256	256					1																	152285496		2203	4300	6503	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1866C>T	1.37:g.152285496G>A			Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152285496	G	A	152285496	2	1	47	1	0	0	0	0	0	0	0	1	5924	1194	42	2		2	FLG	1	152285496	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08	6462	152285496	96965125	7	3404											
FLG2	388698	broad.mit.edu	37	1	152327047	152327047	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:152327047C>T	ENST00000388718.5	-	3	3287	c.3215G>A	c.(3214-3216)cGt>cAt	p.R1072H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1072	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGACTGACGTGATCTAGA	0.473																																																0													319	317	317					1																	152327047		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3215G>A	1.37:g.152327047C>T	ENSP00000373370:p.Arg1072His		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583565	0.28268	.	.	ENSG00000143520	ENST00000388718	T	0.20598	2.06	4.09	2.21	0.28008	.	.	.	.	.	T	0.05090	0.0136	N	0.22421	0.69	0.19775	N	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.39502	-0.9611	9	0.45353	T	0.12	.	10.0785	0.42375	0.0:0.8867:0.0:0.1133	.	1072	Q5D862	FILA2_HUMAN	H	1072	ENSP00000373370:R1072H	ENSP00000373370:R1072H	R	-	2	0	FLG2	150593671	0.006000	0.16342	0.006000	0.13384	0.000000	0.00434	-0.368000	0.07543	0.225000	0.20959	-1.247000	0.01520	CGT		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152327047	C	T	152327047	3	4	47	1	0	0	0	0	1	0	0	0	5925	536	19	1	3964	1	FLG2	1	152327047	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	41551	152327047	96923574	8	3405											
CD1C	911	broad.mit.edu	37	1	158260923	158260923	+	Splice_Site	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:158260923G>A	ENST00000368170.3	+	2	340		c.e2-1			NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule						antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCCACCAAAAGCATCCCAGGA	0.468																																																0													53	47	49					1																	158260923		2203	4300	6503	SO:0001630	splice_region_variant	911			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.62-1G>A	1.37:g.158260923G>A			Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Splice_Site	SNP	ENST00000368170.3	37	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	G	3.166	-0.170988	0.06421	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	.	.	.	3.32	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.20074	N	0.999937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0955	0.09988	0.1466:0.2382:0.6152:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD1C	156527547	0.146000	0.22672	0.000000	0.03702	0.001000	0.01503	1.212000	0.32394	0.346000	0.23899	0.650000	0.86243	.		0.468	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765	Intron	A	158260923	G	A	158260923	5	1	47	1	0	0	0	0	0	0	1	0	2978	985	34	2	67	2	CD1C	1	158260923	Splice_Site	SNP	G	TCGA-A3-3331-01A-01W-0886-08	5933876	158260923	90989698	9	3406											
OR10J5	127385	broad.mit.edu	37	1	159505525	159505525	+	Silent	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:159505525A>G	ENST00000334857.2	-	1	317	c.273T>C	c.(271-273)ccT>ccC	p.P91P		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CCAAGGAGATAGGTTGGTTAT	0.443																																																0													139	119	126					1																	159505525		2203	4300	6503	SO:0001819	synonymous_variant	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.273T>C	1.37:g.159505525A>G			B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	CCDS30910.1																																																																																				0.443	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		G	159505525	A	G	159505525	2	3	47	1	0	0	0	0	0	0	0	1	10914	407	15	3		3	OR10J5	1	159505525	Silent	SNP	A	TCGA-A3-3331-01A-01W-0886-08	1244602	159505525	89745096	10	3407											
C1orf192	257177	broad.mit.edu	37	1	161335453	161335453	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:161335453G>T	ENST00000367974.1	-	4	216	c.211C>A	c.(211-213)Cct>Act	p.P71T	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	71										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCTTCAGAGGCATTTGCCAG	0.502																																																0													116	126	122					1																	161335453		2203	4300	6503	SO:0001583	missense	257177				CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.211C>A	1.37:g.161335453G>T	ENSP00000356951:p.Pro71Thr			Missense_Mutation	SNP	ENST00000367974.1	37	CCDS30921.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378742	0.82682	.	.	ENSG00000188931	ENST00000367974	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.72350	0.3449	M	0.63843	1.955	0.35763	D	0.820357	D	0.89917	1.0	D	0.97110	1.0	T	0.70536	-0.4845	8	0.44086	T	0.13	-10.3308	17.2234	0.86963	0.0:0.0:1.0:0.0	.	71	Q5VTH2	CA192_HUMAN	T	71	.	ENSP00000356951:P71T	P	-	1	0	C1orf192	159602077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.298000	0.65710	2.735000	0.93741	0.655000	0.94253	CCT		0.502	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083309.1	NM_001013625		T	161335453	G	T	161335453	3	4	47	1	0	0	0	0	1	0	0	0	2026	1203	42	4	330	4	C1orf192	1	161335453	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	1829928	161335453	87915168	11	3408											
PPP1R12B	4660	broad.mit.edu	37	1	202398007	202398007	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:202398007G>T	ENST00000608999.1	+	6	1024	c.871G>T	c.(871-873)Gat>Tat	p.D291Y	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.D291Y|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.D291Y|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.D291Y	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	291					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGATGTGGCTGATGAGGGTCT	0.433																																																0													88	83	85					1																	202398007		2203	4300	6503	SO:0001583	missense	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.871G>T	1.37:g.202398007G>T	ENSP00000476755:p.Asp291Tyr		A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	CCDS1426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.862863|4.862863	0.91511|0.91511	.|.	.|.	ENSG00000077157|ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764|ENST00000466968	T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.68|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Ankyrin repeat-containing domain (1);|.	0.000000|.	0.64402|.	D|.	0.000011|.	D|.	0.82779|.	0.5111|.	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.995;0.999;0.999;0.994|.	T|.	0.83227|.	-0.0065|.	10|.	0.87932|.	D|.	0|.	.|.	19.7586|19.7586	0.96304|0.96304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	291;291;291;291|.	O60237-2;O60237;F8W8M3;Q2TAI8|.	.;MYPT2_HUMAN;.;.|.	Y|L	291|86	ENSP00000384496:D291Y;ENSP00000337897:D291Y;ENSP00000417159:D291Y;ENSP00000349206:D291Y|.	ENSP00000337897:D291Y|.	D|X	+|+	1|2	0|2	PPP1R12B|PPP1R12B	200664630|200664630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.617000|9.617000	0.98361|0.98361	2.663000|2.663000	0.90544|0.90544	0.585000|0.585000	0.79938|0.79938	GAT|TGA		0.433	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		T	202398007	G	T	202398007	3	4	47	1	0	0	0	0	1	0	0	0	12360	1290	45	4	893	4	PPP1R12B	1	202398007	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	41062554	202398007	46852614	12	3409											
ZNF670	93474	broad.mit.edu	37	1	247200916	247200916	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:247200916T>C	ENST00000366503.2	-	4	1163	c.1005A>G	c.(1003-1005)aaA>aaG	p.K335K		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATCCATAAGGTTTCACTCCAG	0.403																																																0													125	125	125					1																	247200916		2203	4300	6503	SO:0001819	synonymous_variant	93474				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"Zinc fingers, C2H2-type", "-"	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.1005A>G	1.37:g.247200916T>C				Silent	SNP	ENST00000366503.2	37	CCDS31087.1																																																																																				0.403	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		C	247200916	T	C	247200916	2	2	47	1	0	0	0	0	0	0	0	1	18082	1722	60	3		3	ZNF670	1	247200916	Silent	SNP	T	TCGA-A3-3331-01A-01W-0886-08	44802909	247200916	2049705	13	3410											
RNASEH1	246243	broad.mit.edu	37	2	3604393	3604393	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:3604393G>A	ENST00000315212.3	-	2	585	c.230C>T	c.(229-231)cCg>cTg	p.P77L	AC108488.3_ENST00000438436.1_RNA|AC108488.3_ENST00000426725.1_RNA	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	77					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.P77Q(1)		endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TGAAACTTCCGGGCTTGCAGA	0.463																																																1	Substitution - Missense(1)	lung(1)											67	64	65					2																	3604393		2203	4300	6503	SO:0001583	missense	246243			AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"RNase H1"	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.230C>T	2.37:g.3604393G>A	ENSP00000313350:p.Pro77Leu		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000315212.3	37	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	G	9.537	1.112366	0.20795	.	.	ENSG00000171865	ENST00000315212	T	0.48522	0.81	4.71	3.83	0.44106	.	0.235594	0.43919	N	0.000503	T	0.28499	0.0705	N	0.17082	0.46	0.44736	D	0.997736	B	0.15473	0.013	B	0.06405	0.002	T	0.06698	-1.0812	10	0.27082	T	0.32	-46.1639	9.0886	0.36596	0.0998:0.0:0.9002:0.0	.	77	O60930	RNH1_HUMAN	L	77	ENSP00000313350:P77L	ENSP00000313350:P77L	P	-	2	0	RNASEH1	3582268	0.979000	0.34478	0.771000	0.31576	0.263000	0.26337	1.765000	0.38481	1.341000	0.45600	0.655000	0.94253	CCG		0.463	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			A	3604393	G	A	3604393	3	1	47	1	0	0	0	0	1	0	0	0	13417	1116	39	1	658	1	RNASEH1	2	3604393	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08		3604393	239594980	14	3411											
HADHB	3032	broad.mit.edu	37	2	26486289	26486289	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:26486289A>T	ENST00000317799.5	+	4	255	c.151A>T	c.(151-153)Ata>Tta	p.I51L	HADHB_ENST00000545822.1_Missense_Mutation_p.I29L|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.I51L|HADHB_ENST00000537713.1_Missense_Mutation_p.I51L	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	51					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAACCCAATATAAGGAATGT	0.338																																																0													158	146	150					2																	26486289		2203	4300	6503	SO:0001583	missense	3032				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.151A>T	2.37:g.26486289A>T	ENSP00000325136:p.Ile51Leu		B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957714	0.34565	.	.	ENSG00000138029	ENST00000448743;ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822;ENST00000425035;ENST00000412805	D;D;D;D;D;D;D	0.93307	-2.14;-2.14;-3.2;-2.14;-2.14;-2.14;-2.01	5.64	-11.3	0.00108	.	0.700616	0.14427	N	0.320273	T	0.81394	0.4813	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18461	0.0;0.0;0.028;0.0	B;B;B;B	0.24701	0.001;0.002;0.055;0.001	T	0.60596	-0.7232	10	0.13853	T	0.58	-0.3277	17.3543	0.87331	0.0951:0.247:0.6579:0.0	.	51;29;51;51	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	L	51;51;51;51;29;51;51	ENSP00000415300:I51L;ENSP00000325136:I51L;ENSP00000385411:I51L;ENSP00000444295:I51L;ENSP00000442665:I29L;ENSP00000404633:I51L;ENSP00000413103:I51L	ENSP00000325136:I51L	I	+	1	0	HADHB	26339793	0.004000	0.15560	0.000000	0.03702	0.982000	0.71751	-0.606000	0.05654	-3.414000	0.00168	-0.334000	0.08254	ATA		0.338	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		T	26486289	A	T	26486289	3	4	47	1	0	0	0	0	1	0	0	0	6946	449	16	5	161	5	HADHB	2	26486289	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	22881896	26486289	216713084	15	3412											
SLC5A6	8884	broad.mit.edu	37	2	27429383	27429383	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:27429383A>T	ENST00000310574.3	-	5	952	c.479T>A	c.(478-480)gTg>gAg	p.V160E	SLC5A6_ENST00000408041.1_Missense_Mutation_p.V160E	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	160					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGCATAGAGCACAACTCCCAT	0.532																																																0													113	102	105					2																	27429383		2203	4300	6503	SO:0001583	missense	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.479T>A	2.37:g.27429383A>T	ENSP00000310208:p.Val160Glu		B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085168	0.76642	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471	D;D;D	0.86769	-2.17;-2.17;-2.17	5.94	4.79	0.61399	.	0.062734	0.64402	D	0.000006	D	0.93802	0.8018	M	0.93062	3.375	0.53005	D	0.999961	D	0.53885	0.963	D	0.65010	0.931	D	0.93720	0.7032	10	0.72032	D	0.01	.	9.491	0.38960	0.9156:0.0:0.0844:0.0	.	160	Q9Y289	SC5A6_HUMAN	E	160	ENSP00000310208:V160E;ENSP00000384853:V160E;ENSP00000403851:V160E	ENSP00000310208:V160E	V	-	2	0	SLC5A6	27282887	1.000000	0.71417	0.983000	0.44433	0.951000	0.60555	5.760000	0.68793	1.086000	0.41228	0.460000	0.39030	GTG		0.532	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		T	27429383	A	T	27429383	3	4	47	1	0	0	0	0	1	0	0	0	14675	159	6	5	1480	5	SLC5A6	2	27429383	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	943094	27429383	215769990	16	3413											
BIRC6	57448	broad.mit.edu	37	2	32664671	32664671	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:32664671G>T	ENST00000421745.2	+	16	3861	c.3727G>T	c.(3727-3729)Gta>Tta	p.V1243L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1243					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TATGCGTCCTGTAGTAAGGCT	0.413																																					Pancreas(94;175 1509 16028 18060 45422)											0													123	101	108					2																	32664671		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.3727G>T	2.37:g.32664671G>T	ENSP00000393596:p.Val1243Leu		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912243	0.92178	.	.	ENSG00000115760	ENST00000421745;ENST00000444173	T	0.74002	-0.8	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.65964	0.2742	N	0.25647	0.755	0.52501	D	0.999951	B	0.23316	0.083	B	0.21917	0.037	T	0.60125	-0.7324	10	0.35671	T	0.21	.	19.5729	0.95428	0.0:0.0:1.0:0.0	.	1243	Q9NR09	BIRC6_HUMAN	L	1243;129	ENSP00000393596:V1243L	ENSP00000393596:V1243L	V	+	1	0	BIRC6	32518175	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.546000	0.73887	2.684000	0.91462	0.650000	0.86243	GTA		0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32664671	G	T	32664671	3	4	47	1	0	0	0	0	1	0	0	0	1438	1377	48	4	3789	4	BIRC6	2	32664671	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	5235288	32664671	210534702	17	3414											
RTN4	57142	broad.mit.edu	37	2	55214633	55214633	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:55214633G>A	ENST00000337526.6	-	4	3458	c.3215C>T	c.(3214-3216)cCa>cTa	p.P1072L	RTN4_ENST00000394611.2_Missense_Mutation_p.P866L|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000394609.2_Missense_Mutation_p.P79L|RTN4_ENST00000357732.4_Missense_Mutation_p.P272L|RTN4_ENST00000317610.7_Missense_Mutation_p.P253L|RTN4_ENST00000402434.2_Missense_Mutation_p.P225L|RTN4_ENST00000404909.1_Missense_Mutation_p.P866L|RTN4_ENST00000405240.1_Missense_Mutation_p.P866L|RTN4_ENST00000354474.6_Missense_Mutation_p.P840L|RTN4_ENST00000357376.3_Missense_Mutation_p.P866L	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1072	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCACCTGAATGGGTGGCCTTC	0.443																																																0													143	121	129					2																	55214633		2203	4300	6503	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3215C>T	2.37:g.55214633G>A	ENSP00000337838:p.Pro1072Leu		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114385	0.94339	.	.	ENSG00000115310	ENST00000394609;ENST00000405240;ENST00000357376;ENST00000337526;ENST00000317610;ENST00000357732;ENST00000394611;ENST00000404909;ENST00000402434;ENST00000354474	T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.78419	0.4280	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83872	0.0274	10	0.87932	D	0	-11.141	19.6411	0.95758	0.0:0.0:1.0:0.0	.	253;272;1072;79	Q7L7Q6;Q9NQC3-5;Q9NQC3;Q7L7Q5	.;.;RTN4_HUMAN;.	L	79;866;866;1072;253;272;866;866;225;840	ENSP00000378107:P79L;ENSP00000384471:P866L;ENSP00000349944:P866L;ENSP00000337838:P1072L;ENSP00000322147:P253L;ENSP00000350365:P272L;ENSP00000378109:P866L;ENSP00000385650:P866L;ENSP00000384825:P225L;ENSP00000346465:P840L	ENSP00000322147:P253L	P	-	2	0	RTN4	55068137	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.637000	0.89404	0.650000	0.86243	CCA		0.443	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			A	55214633	G	A	55214633	3	1	47	1	0	0	0	0	1	0	0	0	13734	1348	47	2	387	2	RTN4	2	55214633	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	22549962	55214633	187984740	18	3415											
ADD2	119	broad.mit.edu	37	2	70919544	70919544	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:70919544G>T	ENST00000264436.4	-	7	1140	c.696C>A	c.(694-696)gcC>gcA	p.A232A	ADD2_ENST00000355733.3_Silent_p.A232A|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000407644.2_Silent_p.A232A|ADD2_ENST00000413157.2_Silent_p.A232A|ADD2_ENST00000430656.1_Silent_p.A248A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	232					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCGCTGCTGTGGCCGGTGTGT	0.577																																																0													53	50	51					2																	70919544		2203	4300	6503	SO:0001819	synonymous_variant	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.696C>A	2.37:g.70919544G>T			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	CCDS1906.1																																																																																				0.577	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		T	70919544	G	T	70919544	2	4	47	1	0	0	0	0	0	0	0	1	305	1335	47	4		4	ADD2	2	70919544	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08	15704911	70919544	172279829	19	3416											
POTEE	445582	broad.mit.edu	37	2	132020982	132020982	+	Missense_Mutation	SNP	C	C	T	rs551288353	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:132020982C>T	ENST00000356920.5	+	15	2048	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	652					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TAGTACGTTGCGGGAAGAAAT	0.353													.|||	5	0.000998403	0.0	0.0	5008	,	,		17517	0.001		0.0	False		,,,				2504	0.0041															0													22	23	23					2																	132020982		1919	4149	6068	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1954C>T	2.37:g.132020982C>T	ENSP00000439189:p.Arg652Trp		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	7.556	0.663697	0.14710	.	.	ENSG00000188219	ENST00000356920	T	0.15603	2.41	0.993	0.993	0.19825	.	.	.	.	.	T	0.13372	0.0324	L	0.38175	1.15	0.09310	N	0.999994	B	0.06786	0.001	B	0.01281	0.0	T	0.25813	-1.0121	9	0.87932	D	0	.	7.8788	0.29610	0.0:1.0:0.0:0.0	.	652	Q6S8J3	POTEE_HUMAN	W	652	ENSP00000439189:R652W	ENSP00000439189:R652W	R	+	1	2	AC131180.1	131737452	0.000000	0.05858	0.330000	0.25442	0.033000	0.12548	-0.061000	0.11693	0.847000	0.35167	0.184000	0.17185	CGG		0.353	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		T	132020982	C	T	132020982	3	4	47	1	0	0	0	0	1	0	0	0	12266	759	27	1	2012	1	POTEE	2	132020982	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	61101438	132020982	111178391	20	3417											
ACVR1C	130399	broad.mit.edu	37	2	158395204	158395204	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:158395204C>T	ENST00000243349.8	-	8	1597	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	ACVR1C_ENST00000348328.5_Missense_Mutation_p.E256K|ACVR1C_ENST00000409680.3_Missense_Mutation_p.E363K|ACVR1C_ENST00000335450.7_Missense_Mutation_p.E333K	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AATTGGTACTCCTCAACAATT	0.338																																																0													87	86	86					2																	158395204		2203	4300	6503	SO:0001583	missense	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1237G>A	2.37:g.158395204C>T	ENSP00000243349:p.Glu413Lys			Missense_Mutation	SNP	ENST00000243349.8	37	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499857	0.96355	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115270	0.38217	N	0.001762	D	0.95723	0.8609	M	0.71036	2.16	0.80722	D	1	D;P;P	0.54772	0.968;0.892;0.576	P;P;P	0.56960	0.81;0.551;0.457	D	0.95969	0.8968	10	0.87932	D	0	.	19.0314	0.92959	0.0:1.0:0.0:0.0	.	256;333;413	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	K	413;363;256;333	ENSP00000243349:E413K;ENSP00000387168:E363K;ENSP00000335139:E256K;ENSP00000335178:E333K	ENSP00000243349:E413K	E	-	1	0	ACVR1C	158103450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.590000	0.87494	0.650000	0.86243	GAG		0.338	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		T	158395204	C	T	158395204	3	4	47	1	0	0	0	0	1	0	0	0	222	864	30	2	252	2	ACVR1C	2	158395204	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	26374222	158395204	84804169	21	3418											
LRP2	4036	broad.mit.edu	37	2	170135904	170135904	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:170135904T>G	ENST00000263816.3	-	12	1828	c.1543A>C	c.(1543-1545)Att>Ctt	p.I515L	LRP2_ENST00000443831.1_Missense_Mutation_p.I515L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	515					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCCACGGCAATTCCTCTAGGA	0.408																																																0													88	92	91					2																	170135904		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1543A>C	2.37:g.170135904T>G	ENSP00000263816:p.Ile515Leu		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	7.003	0.555250	0.13436	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.97089	-4.24;-4.24	5.58	0.17	0.15021	Six-bladed beta-propeller, TolB-like (1);	0.299894	0.36591	N	0.002514	D	0.91546	0.7330	N	0.21282	0.65	0.28877	N	0.894636	B;B	0.18863	0.031;0.008	B;B	0.23419	0.046;0.023	T	0.82358	-0.0497	9	.	.	.	.	8.9037	0.35510	0.0:0.0634:0.3594:0.5772	.	515;515	E9PC35;P98164	.;LRP2_HUMAN	L	515	ENSP00000263816:I515L;ENSP00000409813:I515L	.	I	-	1	0	LRP2	169844150	1.000000	0.71417	0.911000	0.35937	0.982000	0.71751	1.370000	0.34238	-0.184000	0.10567	-0.321000	0.08615	ATT		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170135904	T	G	170135904	3	3	47	1	0	0	0	0	1	0	0	0	8958	1493	52	5	12696	5	LRP2	2	170135904	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	11740700	170135904	73063469	22	3419											
CASP8	841	broad.mit.edu	37	2	202137391	202137391	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:202137391A>G	ENST00000432109.2	+	5	631	c.442A>G	c.(442-444)Aag>Gag	p.K148E	CASP8_ENST00000392258.3_Missense_Mutation_p.K148E|CASP8_ENST00000358485.4_Missense_Mutation_p.K207E|CASP8_ENST00000323492.7_Missense_Mutation_p.K148E|CASP8_ENST00000264274.9_Missense_Mutation_p.K148E|CASP8_ENST00000392259.2_Missense_Mutation_p.K148E|CASP8_ENST00000392266.3_Missense_Mutation_p.K148E|CASP8_ENST00000264275.5_Missense_Mutation_p.K180E	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	148	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGAGATGGAGAAGAGGGTCAT	0.398										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)											0													128	132	131					2																	202137391		2203	4300	6503	SO:0001583	missense	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.442A>G	2.37:g.202137391A>G	ENSP00000412523:p.Lys148Glu		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338396	0.81911	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000424461;ENST00000444430	T;D;D;D;T;D;D;D;D;T;D;T;D;D	0.82984	3.84;-1.67;-1.67;-1.67;3.96;-1.67;-1.67;-1.67;-1.67;3.88;-1.67;3.84;-1.67;-1.67	5.98	5.98	0.97165	DEATH-like (2);Death effector (3);	0.000000	0.85682	D	0.000000	D	0.89294	0.6674	M	0.78285	2.405	0.40411	D	0.979742	P;D;D;D;D;D;D;D;D;D	0.89917	0.839;0.999;1.0;1.0;1.0;1.0;0.998;0.994;0.999;1.0	P;D;D;D;D;D;D;D;D;D	0.80764	0.801;0.983;0.989;0.99;0.994;0.98;0.971;0.944;0.98;0.983	D	0.86896	0.2051	10	0.08837	T	0.75	.	14.2105	0.65762	1.0:0.0:0.0:0.0	.	148;148;148;148;148;207;148;148;180;148	Q14790-3;Q14790-6;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;.;CASP8_HUMAN;.;.;.	E	148;148;148;148;148;180;45;148;148;207;148;148;148;11;11	ENSP00000376091:K148E;ENSP00000264274:K148E;ENSP00000376088:K148E;ENSP00000376094:K148E;ENSP00000412523:K148E;ENSP00000264275:K180E;ENSP00000391709:K45E;ENSP00000376087:K148E;ENSP00000388306:K148E;ENSP00000351273:K207E;ENSP00000397528:K148E;ENSP00000325722:K148E;ENSP00000390346:K11E;ENSP00000394434:K11E	ENSP00000264274:K148E	K	+	1	0	CASP8	201845636	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	6.472000	0.73567	2.289000	0.77006	0.482000	0.46254	AAG		0.398	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		G	202137391	A	G	202137391	3	3	47	1	0	0	0	0	1	0	0	0	2679	247	9	3	733	3	CASP8	2	202137391	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	32001487	202137391	41061982	23	3420											
MAP2	4133	broad.mit.edu	37	2	210559316	210559317	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:210559316_210559317insA	ENST00000360351.4	+	7	2928_2929	c.2422_2423insA	c.(2422-2424)gaafs	p.E808fs	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Frame_Shift_Ins_p.E804fs|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	808					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGACCTTCCTGAAATGCTAGAT	0.465																																					Pancreas(27;423 979 28787 29963)											0																																										SO:0001589	frameshift_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2425dupA	2.37:g.210559319_210559319dupA	ENSP00000353508:p.Glu808fs		Q17S04|Q8IUX2|Q99975|Q99976	Frame_Shift_Ins	INS	ENST00000360351.4	37	CCDS2384.1																																																																																				0.465	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		A	210559317	-	A	210559316	7	5	47	1	0	1	1	0	0	0	0	0	9237	1291	45	0	2436	0	MAP2	2	210559316	Frame_Shift_Ins	INS	-	TCGA-A3-3331-01A-01W-0886-08	8421925	210559316	32640057	24	3421											
SLC23A3	151295	broad.mit.edu	37	2	220026737	220026737	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:220026737T>A	ENST00000409878.3	-	12	1759	c.1727A>T	c.(1726-1728)gAt>gTt	p.D576V	SLC23A3_ENST00000396775.3_3'UTR|NHEJ1_ENST00000356853.5_5'Flank|SLC23A3_ENST00000455516.2_Missense_Mutation_p.D584V|SLC23A3_ENST00000295738.7_Missense_Mutation_p.D459V	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	576					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCCTCATCCCCAGGGTC	0.587																																																0													44	46	45					2																	220026737		1913	4129	6042	SO:0001583	missense	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1727A>T	2.37:g.220026737T>A	ENSP00000386473:p.Asp576Val		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518646	0.44763	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516	T;T;T	0.47528	0.84;2.2;2.19	3.75	1.26	0.21427	.	0.684457	0.12587	N	0.455957	T	0.14917	0.0360	N	0.02011	-0.69	0.09310	N	0.999999	B;B;B	0.34214	0.442;0.442;0.023	B;B;B	0.26517	0.07;0.07;0.017	T	0.13442	-1.0509	9	.	.	.	.	3.6721	0.08277	0.1914:0.1081:0.0:0.7006	.	576;584;459	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	V	459;576;584	ENSP00000295738:D459V;ENSP00000386473:D576V;ENSP00000406546:D584V	.	D	-	2	0	SLC23A3	219734981	0.005000	0.15991	0.105000	0.21289	0.977000	0.68977	1.101000	0.31037	0.143000	0.18926	0.459000	0.35465	GAT		0.587	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		A	220026737	T	A	220026737	3	1	47	1	0	0	0	0	1	0	0	0	14470	1435	50	5	109	5	SLC23A3	2	220026737	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	9467421	220026737	23172636	25	3422											
THAP4	51078	broad.mit.edu	37	2	242572694	242572694	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:242572694G>A	ENST00000407315.1	-	2	1309	c.878C>T	c.(877-879)cCg>cTg	p.P293L		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	293							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AGGCTTCTGCGGTGTCGCGGT	0.657																																																0													75	81	79					2																	242572694		2203	4296	6499	SO:0001583	missense	51078			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.878C>T	2.37:g.242572694G>A	ENSP00000385006:p.Pro293Leu		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745369	0.49151	.	.	ENSG00000176946	ENST00000407315	D	0.96651	-4.08	5.49	4.62	0.57501	.	0.626642	0.15485	N	0.259863	D	0.90967	0.7160	L	0.29908	0.895	0.80722	D	1	P	0.39940	0.696	B	0.24155	0.051	D	0.90057	0.4153	10	0.52906	T	0.07	-23.3797	12.4696	0.55779	0.0783:0.0:0.9217:0.0	.	293	Q8WY91	THAP4_HUMAN	L	293	ENSP00000385006:P293L	ENSP00000385006:P293L	P	-	2	0	THAP4	242221367	1.000000	0.71417	0.417000	0.26559	0.231000	0.25187	5.653000	0.67967	1.470000	0.48102	0.650000	0.86243	CCG		0.657	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		A	242572694	G	A	242572694	3	1	47	1	0	0	0	0	1	0	0	0	15851	1116	39	1	883	1	THAP4	2	242572694	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	22545957	242572694	626679	26	3423											
THAP4	51078	broad.mit.edu	37	2	242572757	242572757	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:242572757C>G	ENST00000407315.1	-	2	1246	c.815G>C	c.(814-816)aGc>aCc	p.S272T		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	272							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCCCAGGCTGCTCCCACTGCA	0.622																																																0													72	78	76					2																	242572757		2203	4296	6499	SO:0001583	missense	51078			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.815G>C	2.37:g.242572757C>G	ENSP00000385006:p.Ser272Thr		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	0.939	-0.710283	0.03230	.	.	ENSG00000176946	ENST00000407315	D	0.95949	-3.86	5.28	-0.942	0.10398	.	1.064320	0.07442	N	0.897461	D	0.85353	0.5677	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74791	-0.3545	10	0.02654	T	1	-16.1926	6.7634	0.23552	0.0:0.3267:0.286:0.3872	.	272	Q8WY91	THAP4_HUMAN	T	272	ENSP00000385006:S272T	ENSP00000385006:S272T	S	-	2	0	THAP4	242221430	0.000000	0.05858	0.000000	0.03702	0.640000	0.38277	-0.620000	0.05565	-0.439000	0.07222	0.650000	0.86243	AGC		0.622	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		G	242572757	C	G	242572757	3	3	47	1	0	0	0	0	1	0	0	0	15851	797	28	4	946	4	THAP4	2	242572757	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	63	242572757	626616	27	3424											
ITPR1	3708	broad.mit.edu	37	3	4706866	4706866	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:4706866C>T	ENST00000443694.2	+	14	1554	c.1554C>T	c.(1552-1554)ggC>ggT	p.G518G	ITPR1_ENST00000357086.4_Silent_p.G533G|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.G518G|ITPR1_ENST00000423119.2_Silent_p.G533G|ITPR1_ENST00000354582.6_Silent_p.G533G|ITPR1_ENST00000302640.8_Silent_p.G518G			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	533					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCGGTGATGGCCCAATGCTTC	0.517																																																0													98	100	99					3																	4706866		1981	4154	6135	SO:0001819	synonymous_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1554C>T	3.37:g.4706866C>T			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																				0.517	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		T	4706866	C	T	4706866	2	4	47	1	0	0	0	0	0	0	0	1	7922	726	26	2		2	ITPR1	3	4706866	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08		4706866	193315564	28	3425											
VHL	7428	broad.mit.edu	37	3	10188198	10188198	+	Splice_Site	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:10188198G>C	ENST00000256474.2	+	2	1181	c.341G>C	c.(340-342)gGt>gCt	p.G114A	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	114	Involved in binding to CCT complex.		G -> C (in VHLD; type II). {ECO:0000269|PubMed:8956040}.|G -> R (in VHLD; type I-II).|G -> S (in VHLD; type II). {ECO:0000269|PubMed:8825918}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G114A(4)|p.?(3)|p.G114D(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCCCGATAGGTCACCTTTGG	0.537		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Substitution - Missense(5)|Unknown(3)	kidney(7)|upper_aerodigestive_tract(1)	GRCh37	CI065860	VHL	I							165	153	157					3																	10188198		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.341-1G>C	3.37:g.10188198G>C			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271154	0.40194	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99849	-7.15	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97588	1.0115	9	.	.	.	.	16.3181	0.82935	0.0:0.0:1.0:0.0	.	114	P40337	VHL_HUMAN	A	114;32	ENSP00000256474:G114A	.	G	+	2	0	VHL	10163198	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	4.362000	0.59467	2.530000	0.85305	0.563000	0.77884	GGT		0.537	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Missense_Mutation	C	10188198	G	C	10188198	5	2	47	1	0	0	0	0	0	0	1	0	17167	1275	44	4	347	4	VHL	3	10188198	Splice_Site	SNP	G	TCGA-A3-3331-01A-01W-0886-08	5481332	10188198	187834232	29	3426											
SEC13	6396	broad.mit.edu	37	3	10345822	10345822	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:10345822G>A	ENST00000350697.3	-	8	868	c.743C>T	c.(742-744)gCc>gTc	p.A248V	SEC13_ENST00000337354.4_Missense_Mutation_p.A251V|SEC13_ENST00000397117.1_Missense_Mutation_p.A234V|SEC13_ENST00000492602.1_5'UTR|SEC13_ENST00000383801.2_Missense_Mutation_p.A294V|SEC13_ENST00000397109.3_Missense_Mutation_p.A234V	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	248					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						ATTGCTTGAGGCATCATCACA	0.498																																																0													160	114	130					3																	10345822		2203	4300	6503	SO:0001583	missense	6396				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"WD repeat domain containing"	10697	protein-coding gene	gene with protein product		600152	"SEC13 (S. cerevisiae)-like 1", "SEC13-like 1 (S. cerevisiae)"	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.743C>T	3.37:g.10345822G>A	ENSP00000312122:p.Ala248Val		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	ENST00000350697.3	37	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916474	0.33815	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801	T;T;T;T;T	0.69561	0.86;-0.27;-0.41;0.02;-0.3	5.14	3.37	0.38596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.273419	0.41605	N	0.000846	T	0.50871	0.1641	L	0.29908	0.895	0.42524	D	0.993015	B;B;B;B	0.17667	0.023;0.0;0.0;0.013	B;B;B;B	0.08055	0.003;0.001;0.0;0.002	T	0.38564	-0.9655	10	0.31617	T	0.26	-10.8161	9.9175	0.41444	0.1671:0.0:0.8329:0.0	.	248;234;294;248	E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;SEC13_HUMAN	V	234;251;248;234;294	ENSP00000380298:A234V;ENSP00000336566:A251V;ENSP00000312122:A248V;ENSP00000380306:A234V;ENSP00000373312:A294V	ENSP00000336566:A251V	A	-	2	0	SEC13	10320822	1.000000	0.71417	0.474000	0.27266	0.635000	0.38103	4.135000	0.57997	0.576000	0.29452	-0.194000	0.12790	GCC		0.498	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			A	10345822	G	A	10345822	3	1	47	1	0	0	0	0	1	0	0	0	13986	1203	42	2	233	2	SEC13	3	10345822	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	157624	10345822	187676608	30	3427											
PBRM1	55193	broad.mit.edu	37	3	52637659	52637659	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:52637659A>C	ENST00000296302.7	-	17	2658	c.2657T>G	c.(2656-2658)cTt>cGt	p.L886R	PBRM1_ENST00000337303.4_Missense_Mutation_p.L886R|PBRM1_ENST00000409767.1_Missense_Mutation_p.L901R|PBRM1_ENST00000409057.1_Missense_Mutation_p.L886R|PBRM1_ENST00000410007.1_Missense_Mutation_p.L886R|PBRM1_ENST00000394830.3_Missense_Mutation_p.L886R|PBRM1_ENST00000356770.4_Missense_Mutation_p.L854R|PBRM1_ENST00000409114.3_Missense_Mutation_p.L901R			Q86U86	PB1_HUMAN	polybromo 1	886					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CGGTGAAAGAAGAATCTCTCC	0.343			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													78	75	76					3																	52637659		2203	4299	6502	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2657T>G	3.37:g.52637659A>C	ENSP00000296302:p.Leu886Arg		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	25.7	4.662958	0.88251	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.98;1.0;0.96;0.97;0.97;1.42;0.96;0.97;1.07	5.72	5.72	0.89469	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.79258	2.445	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.991;0.999;0.997;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D	0.87578	0.993;0.995;0.977;0.993;0.989;0.998;0.993;0.993;0.993	T	0.70619	-0.4822	10	0.72032	D	0.01	-12.6412	16.3035	0.82836	1.0:0.0:0.0:0.0	.	886;886;886;886;901;901;886;854;886	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	R	854;886;886;886;886;886;901;901;886;845	ENSP00000349213:L854R;ENSP00000378307:L886R;ENSP00000296302:L886R;ENSP00000338302:L886R;ENSP00000386593:L886R;ENSP00000386529:L886R;ENSP00000386643:L901R;ENSP00000386601:L901R;ENSP00000387775:L886R;ENSP00000397662:L845R	ENSP00000296302:L886R	L	-	2	0	PBRM1	52612699	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.255000	0.95524	2.299000	0.77371	0.528000	0.53228	CTT		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52637659	A	C	52637659	3	2	47	1	0	0	0	0	1	0	0	0	11493	72	3	5	2299	5	PBRM1	3	52637659	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	42291837	52637659	145384771	31	3428											
PVRL3	25945	broad.mit.edu	37	3	110852894	110852894	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:110852894G>A	ENST00000485303.1	+	6	1757	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	494					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AAAAAACTCAGTGGAACAATG	0.318																																																0													38	41	40					3																	110852894		2202	4295	6497	SO:0001819	synonymous_variant	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1482G>A	3.37:g.110852894G>A			E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Silent	SNP	ENST00000485303.1	37	CCDS2957.1																																																																																				0.318	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		A	110852894	G	A	110852894	2	1	47	1	0	0	0	0	0	0	0	1	12847	1020	36	2		2	PVRL3	3	110852894	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08	58215235	110852894	87169536	32	3429											
SEC62	7095	broad.mit.edu	37	3	169710808	169710808	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:169710808A>C	ENST00000337002.4	+	8	1215	c.1157A>C	c.(1156-1158)gAa>gCa	p.E386A	SEC62_ENST00000480708.1_Missense_Mutation_p.E386A	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	386					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GAGGAAGAGGAAAATGATGGA	0.368																																																0													56	47	50					3																	169710808		2203	4300	6503	SO:0001583	missense	7095			D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.1157A>C	3.37:g.169710808A>C	ENSP00000337688:p.Glu386Ala		D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	A	1.599	-0.527095	0.04141	.	.	ENSG00000008952	ENST00000337002;ENST00000537426;ENST00000544081;ENST00000480708	T;T	0.27890	1.64;1.64	5.76	4.61	0.57282	.	0.339981	0.31381	N	0.007750	T	0.18551	0.0445	N	0.19112	0.55	0.27178	N	0.960732	B	0.06786	0.001	B	0.09377	0.004	T	0.13229	-1.0517	10	0.51188	T	0.08	-1.3175	6.8602	0.24062	0.7959:0.0:0.0706:0.1336	.	386	Q99442	SEC62_HUMAN	A	386;110;110;386	ENSP00000337688:E386A;ENSP00000420331:E386A	ENSP00000337688:E386A	E	+	2	0	SEC62	171193502	1.000000	0.71417	0.513000	0.27749	0.012000	0.07955	6.404000	0.73268	1.017000	0.39495	-0.353000	0.07706	GAA		0.368	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			C	169710808	A	C	169710808	3	2	47	1	0	0	0	0	1	0	0	0	14010	246	9	5	1187	5	SEC62	3	169710808	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	58857914	169710808	28311622	33	3430											
CNGA1	1259	broad.mit.edu	37	4	47938619	47938619	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:47938619T>A	ENST00000514170.1	-	11	2211	c.1892A>T	c.(1891-1893)gAg>gTg	p.E631V	CNGA1_ENST00000402813.3_Missense_Mutation_p.E700V|CNGA1_ENST00000420489.2_Missense_Mutation_p.E631V|CNGA1_ENST00000544810.1_Missense_Mutation_p.E631V|CNGA1_ENST00000358519.4_Missense_Mutation_p.E631V			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	631					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TACTGACCCCTCCATTCGAGT	0.428																																																0													143	141	142					4																	47938619		1912	4113	6025	SO:0001583	missense	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1892A>T	4.37:g.47938619T>A	ENSP00000426862:p.Glu631Val		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235774	0.39498	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97279	-4.2;-4.32;-4.32;-4.32;-4.32	4.77	4.77	0.60923	.	0.168241	0.53938	D	0.000056	D	0.97133	0.9063	M	0.85197	2.74	0.45005	D	0.998027	D;D	0.54601	0.967;0.967	P;P	0.46320	0.512;0.512	D	0.97447	1.0025	10	0.66056	D	0.02	.	14.615	0.68541	0.0:0.0:0.0:1.0	.	631;631	Q4W5E3;P29973	.;CNGA1_HUMAN	V	700;631;631;631;631	ENSP00000384264:E700V;ENSP00000426862:E631V;ENSP00000443401:E631V;ENSP00000351320:E631V;ENSP00000389881:E631V	ENSP00000351320:E631V	E	-	2	0	CNGA1	47633376	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.791000	0.55469	1.907000	0.55213	0.402000	0.26972	GAG		0.428	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		A	47938619	T	A	47938619	3	1	47	1	0	0	0	0	1	0	0	0	3598	1551	54	5	184	5	CNGA1	4	47938619	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08		47938619	143215657	34	3431											
TMPRSS11F	389208	broad.mit.edu	37	4	68934474	68934474	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:68934474A>G	ENST00000356291.2	-	7	676	c.617T>C	c.(616-618)aTt>aCt	p.I206T	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	206	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TCCTTGGACAATTCTTTGAGT	0.473																																																0													117	106	109					4																	68934474		2203	4300	6503	SO:0001583	missense	389208			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.617T>C	4.37:g.68934474A>G	ENSP00000348639:p.Ile206Thr		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742180	0.69418	.	.	ENSG00000198092	ENST00000356291	D	0.95482	-3.72	5.82	5.82	0.92795	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.103686	0.42053	D	0.000765	D	0.96734	0.8934	M	0.87971	2.92	0.43907	D	0.996542	P	0.40578	0.722	P	0.48598	0.583	D	0.97073	0.9779	10	0.87932	D	0	.	12.575	0.56359	1.0:0.0:0.0:0.0	.	206	Q6ZWK6	TM11F_HUMAN	T	206	ENSP00000348639:I206T	ENSP00000348639:I206T	I	-	2	0	TMPRSS11F	68617069	0.933000	0.31639	0.984000	0.44739	0.739000	0.42172	5.624000	0.67764	2.228000	0.72767	0.533000	0.62120	ATT		0.473	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		G	68934474	A	G	68934474	3	3	47	1	0	0	0	0	1	0	0	0	16248	101	4	3	715	3	TMPRSS11F	4	68934474	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	20995855	68934474	122219802	35	3432											
ANKRD17	26057	broad.mit.edu	37	4	74043222	74043222	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:74043222T>G	ENST00000358602.4	-	2	538	c.422A>C	c.(421-423)gAt>gCt	p.D141A	ANKRD17_ENST00000509867.2_Missense_Mutation_p.D28A|ANKRD17_ENST00000330838.6_Missense_Mutation_p.D141A	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	141					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTTCCAAATCATCCTGATC	0.428																																																0													83	76	78					4																	74043222		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.422A>C	4.37:g.74043222T>G	ENSP00000351416:p.Asp141Ala		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681702	0.88542	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.80566	-1.39;-1.39;-0.38	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	D	0.83760	0.5324	L	0.36672	1.1	0.39841	D	0.973104	B;D;B;B	0.76494	0.04;0.999;0.11;0.349	B;D;B;B	0.77557	0.06;0.99;0.092;0.079	T	0.80621	-0.1301	10	0.15066	T	0.55	.	15.8528	0.78947	0.0:0.0:0.0:1.0	.	141;141;141;28	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	A	141;141;141;28;141	ENSP00000351416:D141A;ENSP00000332265:D141A;ENSP00000427151:D28A	ENSP00000332265:D141A	D	-	2	0	ANKRD17	74262086	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.141000	0.66446	0.482000	0.46254	GAT		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		G	74043222	T	G	74043222	3	3	47	1	0	0	0	0	1	0	0	0	646	1435	50	5	7521	5	ANKRD17	4	74043222	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	5108748	74043222	117111054	36	3433											
PKD2	5311	broad.mit.edu	37	4	88983082	88983082	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:88983082G>A	ENST00000508588.1	+	5	693	c.298G>A	c.(298-300)Gat>Aat	p.D100N	PKD2_ENST00000237596.2_Missense_Mutation_p.D682N|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.D100N			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TATCATCAATGATACTTACTC	0.323																																																0													95	99	98					4																	88983082		2203	4299	6502	SO:0001583	missense	5311			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.298G>A	4.37:g.88983082G>A	ENSP00000427131:p.Asp100Asn		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.467596	0.96257	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.72051	-0.62;-0.62;-0.62	5.65	5.65	0.86999	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.86418	0.5928	M	0.86097	2.795	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.87911	0.2697	10	0.87932	D	0	-23.5889	19.7221	0.96147	0.0:0.0:1.0:0.0	.	682	Q13563	PKD2_HUMAN	N	682;100;100	ENSP00000237596:D682N;ENSP00000427131:D100N;ENSP00000425289:D100N	ENSP00000237596:D682N	D	+	1	0	PKD2	89202106	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.622000	0.98378	2.657000	0.90304	0.650000	0.86243	GAT		0.323	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		A	88983082	G	A	88983082	3	1	47	1	0	0	0	0	1	0	0	0	11968	1290	45	2	2082	2	PKD2	4	88983082	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	14939860	88983082	102171194	37	3434	40	2									
PKD2	5311	broad.mit.edu	37	4	88983083	88983083	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:88983083A>T	ENST00000508588.1	+	5	694	c.299A>T	c.(298-300)gAt>gTt	p.D100V	PKD2_ENST00000237596.2_Missense_Mutation_p.D682V|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.D100V			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATCATCAATGATACTTACTCT	0.323																																																0													96	99	98					4																	88983083		2203	4299	6502	SO:0001583	missense	5311			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.299A>T	4.37:g.88983083A>T	ENSP00000427131:p.Asp100Val		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37		.	.	.	.	.	.	.	.	.	.	A	24.9	4.583499	0.86748	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.72505	-0.66;-0.66;-0.66	5.65	5.65	0.86999	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83799	0.0235	10	0.54805	T	0.06	-23.5889	15.8732	0.79141	1.0:0.0:0.0:0.0	.	682	Q13563	PKD2_HUMAN	V	682;100;100	ENSP00000237596:D682V;ENSP00000427131:D100V;ENSP00000425289:D100V	ENSP00000237596:D682V	D	+	2	0	PKD2	89202107	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.107000	0.94261	2.146000	0.66826	0.528000	0.53228	GAT		0.323	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		T	88983083	A	T	88983083	3	4	47	1	0	0	0	0	1	0	0	0	11968	333	12	5	2083	5	PKD2	4	88983083	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	1	88983083	102171193	38	3435	40	2									
GRID2	2895	broad.mit.edu	37	4	94031946	94031946	+	Missense_Mutation	SNP	A	A	G	rs61745072	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:94031946A>G	ENST00000282020.4	+	4	835	c.577A>G	c.(577-579)Atg>Gtg	p.M193V	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.M98V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	193					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCAGCAGGGAATGGATGTTGC	0.393													A|||	8	0.00159744	0.0061	0.0	5008	,	,		19679	0.0		0.0	False		,,,				2504	0.0															0								A	VAL/MET	10,4396	16.8+/-37.8	0,10,2193	161	164	163		577	5.5	1	4	dbSNP_129	163	0,8600		0,0,4300	yes	missense	GRID2	NM_001510.2	21	0,10,6493	GG,GA,AA		0.0,0.227,0.0769	benign	193/1008	94031946	10,12996	2203	4300	6503	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.577A>G	4.37:g.94031946A>G	ENSP00000282020:p.Met193Val		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	13.74	2.326094	0.41197	0.00227	0.0	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.85411	-1.84;-1.98	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	N	0.19112	0.55	0.49051	D	0.999742	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.09377	0.004;0.004;0.004	T	0.70669	-0.4808	10	0.51188	T	0.08	.	15.8909	0.79296	1.0:0.0:0.0:0.0	rs61745072	98;193;134	E9PH24;O43424;B4DYB9	.;GRID2_HUMAN;.	V	193;98	ENSP00000282020:M193V;ENSP00000421257:M98V	ENSP00000282020:M193V	M	+	1	0	GRID2	94250969	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.025000	0.57225	2.213000	0.71641	0.533000	0.62120	ATG		0.393	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			G	94031946	A	G	94031946	3	3	47	1	0	0	0	0	1	0	0	0	6774	101	4	3	591	3	GRID2	4	94031946	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	5048863	94031946	97122330	39	3436											
DCHS2	54798	broad.mit.edu	37	4	155157334	155157334	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:155157334G>T	ENST00000357232.4	-	25	7104	c.7105C>A	c.(7105-7107)Ctc>Atc	p.L2369I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2369	Cadherin 21. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGAGGAAGAGATCATGATCA	0.393																																																0													103	95	98					4																	155157334		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7105C>A	4.37:g.155157334G>T	ENSP00000349768:p.Leu2369Ile		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	2.717	-0.267428	0.05754	.	.	ENSG00000197410	ENST00000357232	T	0.51325	0.71	5.73	0.806	0.18708	Cadherin (4);Cadherin-like (1);	0.940945	0.08888	N	0.879076	T	0.31918	0.0812	L	0.42686	1.345	0.09310	N	1	P	0.36027	0.533	B	0.34301	0.179	T	0.19128	-1.0315	10	0.23302	T	0.38	.	1.1556	0.01795	0.2364:0.1062:0.4028:0.2546	.	2369	Q6V1P9	PCD23_HUMAN	I	2369	ENSP00000349768:L2369I	ENSP00000349768:L2369I	L	-	1	0	DCHS2	155376784	0.074000	0.21230	0.005000	0.12908	0.108000	0.19459	0.456000	0.21859	0.150000	0.19136	-0.140000	0.14226	CTC		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155157334	G	T	155157334	3	4	47	1	0	0	0	0	1	0	0	0	4290	942	33	4	1649	4	DCHS2	4	155157334	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	61125388	155157334	35996942	40	3437											
AADAT	51166	broad.mit.edu	37	4	170991760	170991760	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:170991760T>C	ENST00000337664.4	-	6	974	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	AADAT_ENST00000515480.1_Missense_Mutation_p.Y233C|AADAT_ENST00000509167.1_Missense_Mutation_p.Y237C|AADAT_ENST00000353187.2_Missense_Mutation_p.Y233C	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	233					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		GAGAAAATAGTAAGGATCATC	0.279																																																0													62	68	66					4																	170991760		2201	4290	6491	SO:0001583	missense	51166			AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"kynurenine aminotransferase II", "L kynurenine/alpha aminoadipate aminotransferase"	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.698A>G	4.37:g.170991760T>C	ENSP00000336808:p.Tyr233Cys		B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115394	0.77323	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.23	5.23	0.72850	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	H	0.95437	3.67	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99787	1.1030	10	0.87932	D	0	-15.446	15.4161	0.74970	0.0:0.0:0.0:1.0	.	237;233	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	C	233;233;237;233	ENSP00000336808:Y233C;ENSP00000423341:Y233C;ENSP00000423190:Y237C;ENSP00000226840:Y233C	ENSP00000336808:Y233C	Y	-	2	0	AADAT	171228335	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.005000	0.76323	2.112000	0.64535	0.533000	0.62120	TAC		0.279	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		C	170991760	T	C	170991760	3	2	47	1	0	0	0	0	1	0	0	0	14	1638	57	3	611	3	AADAT	4	170991760	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	15834426	170991760	20162516	41	3438											
DNAH5	1767	broad.mit.edu	37	5	13883076	13883076	+	Silent	SNP	G	G	T	rs371824972		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:13883076G>T	ENST00000265104.4	-	20	3215	c.3111C>A	c.(3109-3111)gcC>gcA	p.A1037A	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1037	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCACTCCACGGCTTTGTTCA	0.532									Kartagener syndrome																																							0													171	150	157					5																	13883076		2203	4300	6503	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3111C>A	5.37:g.13883076G>T			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.532	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13883076	G	T	13883076	2	4	47	1	0	0	0	0	0	0	0	1	4606	1103	39	4		4	DNAH5	5	13883076	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08		13883076	167032184	42	3439											
ERBB2IP	55914	broad.mit.edu	37	5	65350722	65350722	+	Silent	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:65350722T>A	ENST00000284037.5	+	21	3965	c.3576T>A	c.(3574-3576)gtT>gtA	p.V1192V	ERBB2IP_ENST00000380938.2_Silent_p.V1192V|ERBB2IP_ENST00000508515.1_Silent_p.V1192V|ERBB2IP_ENST00000380935.1_Silent_p.V1192V|ERBB2IP_ENST00000380939.2_Silent_p.V1192V|ERBB2IP_ENST00000511297.1_Silent_p.V1188V|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Silent_p.V1192V|ERBB2IP_ENST00000380936.1_Silent_p.V1192V|ERBB2IP_ENST00000506030.1_Silent_p.V1192V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1192					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AAAGTAAAGTTCCTCGTGACT	0.338																																																0													51	52	52					5																	65350722		2202	4300	6502	SO:0001819	synonymous_variant	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3576T>A	5.37:g.65350722T>A			A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	6.016	0.371426	0.11409	.	.	ENSG00000112851	ENST00000511671	.	.	.	5.79	4.76	0.60689	.	.	.	.	.	T	0.54351	0.1853	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52495	-0.8568	4	.	.	.	.	4.6495	0.12587	0.0:0.4217:0.0:0.5783	.	.	.	.	T	88	.	.	S	+	1	0	ERBB2IP	65386478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.329000	0.33770	1.023000	0.39654	0.528000	0.53228	TCC		0.338	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		A	65350722	T	A	65350722	2	1	47	1	0	0	0	0	0	0	0	1	5209	1770	62	5		5	ERBB2IP	5	65350722	Silent	SNP	T	TCGA-A3-3331-01A-01W-0886-08	51467646	65350722	115564538	43	3440											
GFRA3	2676	broad.mit.edu	37	5	137593617	137593617	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:137593617C>A	ENST00000274721.3	-	4	742	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	GFRA3_ENST00000378362.3_Missense_Mutation_p.A135S	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	166					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)	p.A166T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACAGCATGGCAAACTTGAGG	0.652																																																1	Substitution - Missense(1)	endometrium(1)											35	37	36					5																	137593617		2203	4300	6503	SO:0001583	missense	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.496G>T	5.37:g.137593617C>A	ENSP00000274721:p.Ala166Ser		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379804	0.42207	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.63913	-0.07;-0.07	5.12	3.05	0.35203	GDNF/GAS1 (2);	0.248788	0.40818	N	0.001001	T	0.65954	0.2741	M	0.81682	2.555	0.32068	N	0.594822	B;P	0.43826	0.143;0.818	B;P	0.48921	0.286;0.595	T	0.70799	-0.4774	10	0.45353	T	0.12	-12.142	5.0676	0.14591	0.0:0.6973:0.0:0.3027	.	135;166	O60609-2;O60609	.;GFRA3_HUMAN	S	166;135	ENSP00000274721:A166S;ENSP00000367613:A135S	ENSP00000274721:A166S	A	-	1	0	GFRA3	137621516	0.817000	0.29147	0.983000	0.44433	0.072000	0.16883	0.881000	0.28173	1.163000	0.42636	-0.140000	0.14226	GCC		0.652	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		A	137593617	C	A	137593617	3	1	47	1	0	0	0	0	1	0	0	0	6351	710	25	4	726	4	GFRA3	5	137593617	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	72242895	137593617	43321643	44	3441											
PCDHA13	56136	broad.mit.edu	37	5	140262083	140262083	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:140262083T>A	ENST00000289272.2	+	1	230	c.230T>A	c.(229-231)gTa>gAa	p.V77E	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V77E|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	77	Cadherin 1. {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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGGAGGTAAATCTGCAG	0.622																																					Melanoma(147;1739 1852 5500 27947 37288)											0													81	92	88					5																	140262083		2203	4292	6495	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.230T>A	5.37:g.140262083T>A	ENSP00000289272:p.Val77Glu		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949576	0.73787	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.43294	0.95;0.95	5.54	5.54	0.83059	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77877	0.4196	H	0.98314	4.2	0.34394	D	0.694493	P;P;P	0.51240	0.906;0.936;0.943	P;D;P	0.67548	0.724;0.952;0.564	D	0.90304	0.4332	9	0.87932	D	0	.	15.3906	0.74741	0.0:0.0:0.0:1.0	.	77;77;77	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	E	77	ENSP00000386821:V77E;ENSP00000289272:V77E	ENSP00000289272:V77E	V	+	2	0	PCDHA13	140242267	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.860000	0.69546	2.114000	0.64651	0.454000	0.30748	GTA		0.622	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		A	140262083	T	A	140262083	3	1	47	1	0	0	0	0	1	0	0	0	11525	1638	57	5	232	5	PCDHA13	5	140262083	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	2668466	140262083	40653177	45	3442											
TCERG1	10915	broad.mit.edu	37	5	145838725	145838725	+	Silent	SNP	C	C	T	rs527340881	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:145838725C>T	ENST00000296702.5	+	4	755	c.717C>T	c.(715-717)gcC>gcT	p.A239A	TCERG1_ENST00000394421.2_Silent_p.A239A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	239	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggcccaggcccaggctcagg	0.672																																																0													48	52	51					5																	145838725		2203	4300	6503	SO:0001819	synonymous_variant	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.717C>T	5.37:g.145838725C>T			Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																				0.672	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		T	145838725	C	T	145838725	2	4	47	1	0	0	0	0	0	0	0	1	15690	610	22	2		2	TCERG1	5	145838725	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08	5576642	145838725	35076535	46	3443											
GPX3	10318	broad.mit.edu	37	5	150407073	150407073	+	IGR	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:150407073A>T	ENST00000389378.2	-	0	3268				GPX3_ENST00000388825.4_Missense_Mutation_p.K147I|GPX3_ENST00000517973.1_Missense_Mutation_p.N96Y	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1						defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAGCAGAAATTCTACACT	0.537																																																0													69	70	70					5																	150407073		1982	4175	6157	SO:0001628	intergenic_variant	2878			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025			5.37:g.150407073A>T			A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	CCDS34280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.14|10.14	1.269609|1.269609	0.23221|0.23221	.|.	.|.	ENSG00000211445|ENSG00000211445	ENST00000388825|ENST00000517973;ENST00000520059	T|.	0.04015|.	3.73|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Thioredoxin-like fold (2);|.	0.185112|.	0.48767|.	D|.	0.000163|.	T|T	0.66616|0.66616	0.2807|0.2807	M|M	0.66506|0.66506	2.035|2.035	0.80722|0.80722	D|D	1|1	P|.	0.42248|.	0.774|.	P|.	0.57679|.	0.825|.	T|T	0.70335|0.70335	-0.4900|-0.4900	10|6	0.87932|0.87932	D|D	0|0	.|.	9.9593|9.9593	0.41686|0.41686	0.8795:0.0:0.1205:0.0|0.8795:0.0:0.1205:0.0	.|.	147|.	P22352|.	GPX3_HUMAN|.	I|Y	147|96;45	ENSP00000373477:K147I|.	ENSP00000373477:K147I|ENSP00000429709:N96Y	K|N	+|+	2|1	0|0	GPX3|GPX3	150387266|150387266	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	2.191000|2.191000	0.42640|0.42640	2.123000|2.123000	0.65237|0.65237	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.537	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		T	150407073	A	T	150407073	1	4	47	0	1	0	0	0	0	0	0	0	6743	14	1	5		5	GPX3	5	150407073	IGR	SNP	A	TCGA-A3-3331-01A-01W-0886-08	4568348	150407073	30508187	47	3444											
ITK	3702	broad.mit.edu	37	5	156650008	156650008	+	Missense_Mutation	SNP	G	G	C	rs142038079		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:156650008G>C	ENST00000422843.3	+	6	783	c.631G>C	c.(631-633)Gtc>Ctc	p.V211L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	211	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CTGGTGGAGAGTCCAGGACAG	0.498			T	SYK	peripheral T-cell lymphoma								G|||	1	0.000199681	0.0008	0.0	5008	,	,		20515	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0								G	LEU/VAL	9,4397	15.5+/-35.6	0,9,2194	138	132	134		631	4.8	1	5	dbSNP_134	134	0,8600		0,0,4300	yes	missense	ITK	NM_005546.3	32	0,9,6494	CC,CG,GG		0.0,0.2043,0.0692	benign	211/621	156650008	9,12997	2203	4300	6503	SO:0001583	missense	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.631G>C	5.37:g.156650008G>C	ENSP00000398655:p.Val211Leu		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.4	3.990697	0.74589	0.002043	0.0	ENSG00000113263	ENST00000422843	T	0.20200	2.09	5.71	4.84	0.62591	Src homology-3 domain (4);	0.059121	0.64402	D	0.000002	T	0.32102	0.0818	M	0.82132	2.575	0.52099	D	0.999948	P	0.47604	0.898	P	0.45167	0.472	T	0.20009	-1.0288	10	0.56958	D	0.05	.	11.9077	0.52721	0.0815:0.0:0.9185:0.0	.	211	Q08881	ITK_HUMAN	L	211	ENSP00000398655:V211L	ENSP00000398655:V211L	V	+	1	0	ITK	156582586	1.000000	0.71417	0.971000	0.41717	0.955000	0.61496	3.617000	0.54181	1.419000	0.47118	-0.229000	0.12294	GTC		0.498	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			C	156650008	G	C	156650008	3	2	47	1	0	0	0	0	1	0	0	0	7911	1029	36	4	653	4	ITK	5	156650008	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	6242935	156650008	24265252	48	3445											
ODZ2	57451	broad.mit.edu	37	5	167545329	167545329	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:167545329C>A	ENST00000518659.1	+	10	1885	c.1846C>A	c.(1846-1848)Caa>Aaa	p.Q616K	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000519204.1_Missense_Mutation_p.Q495K|TENM2_ENST00000403607.2_Missense_Mutation_p.Q449K|TENM2_ENST00000520394.1_Missense_Mutation_p.Q384K|TENM2_ENST00000545108.1_Missense_Mutation_p.Q616K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	616	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGGGAATGGACAATATTCTAA	0.582																																																0													150	150	150					5																	167545329		2149	4243	6392	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1846C>A	5.37:g.167545329C>A	ENSP00000429430:p.Gln616Lys		Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	19.26	3.793824	0.70452	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	4.61	4.61	0.57282	Epidermal growth factor-like, type 3 (1);	0.056040	0.64402	D	0.000001	T	0.10809	0.0264	L	0.35644	1.08	0.54753	D	0.999989	B;B;B	0.27971	0.196;0.018;0.065	B;B;B	0.25140	0.058;0.005;0.044	T	0.13953	-1.0490	10	0.28530	T	0.3	.	17.4529	0.87597	0.0:1.0:0.0:0.0	.	616;384;495	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	K	616;616;495;384;449	ENSP00000429430:Q616K;ENSP00000438635:Q616K;ENSP00000428964:Q495K;ENSP00000427874:Q384K;ENSP00000384905:Q449K	ENSP00000384905:Q449K	Q	+	1	0	ODZ2	167477907	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.104000	0.64026	0.563000	0.77884	CAA		0.582	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167545329	C	A	167545329	3	1	47	1	0	0	0	0	1	0	0	0	10837	479	17	4	1884	4	ODZ2	5	167545329	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	10895321	167545329	13369931	49	3446											
NKAPL	222698	broad.mit.edu	37	6	28227518	28227518	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:28227518G>A	ENST00000343684.3	+	1	421	c.369G>A	c.(367-369)aaG>aaA	p.K123K	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	123										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GGAGGCTGAAGGAGAGAGAGA	0.542																																																0													87	93	91					6																	28227518		2203	4300	6503	SO:0001819	synonymous_variant	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.369G>A	6.37:g.28227518G>A			Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	CCDS34353.1																																																																																				0.542	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			A	28227518	G	A	28227518	2	1	47	1	0	0	0	0	0	0	0	1	10442	991	35	2		2	NKAPL	6	28227518	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08		28227518	142887549	50	3447											
DNAH8	1769	broad.mit.edu	37	6	38793935	38793935	+	Missense_Mutation	SNP	C	C	A	rs562900966		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:38793935C>A	ENST00000359357.3	+	27	3454	c.3200C>A	c.(3199-3201)cCg>cAg	p.P1067Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.P1284Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.P1067Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1067					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCATCAGAGCCGATGAAATTG	0.363																																																0													51	48	49					6																	38793935		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3200C>A	6.37:g.38793935C>A	ENSP00000352312:p.Pro1067Gln		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	C	8.463	0.855657	0.17106	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26518	1.8;1.79;1.73	4.97	4.97	0.65823	.	0.347829	0.29900	N	0.010920	T	0.16041	0.0386	L	0.59436	1.845	0.41431	D	0.987865	B	0.27498	0.18	B	0.24269	0.052	T	0.02560	-1.1141	10	0.36615	T	0.2	.	16.4679	0.84090	0.0:1.0:0.0:0.0	.	1067	Q96JB1	DYH8_HUMAN	Q	1272;1272;1067;1067	ENSP00000333363:P1272Q;ENSP00000352312:P1067Q;ENSP00000402294:P1067Q	ENSP00000333363:P1272Q	P	+	2	0	DNAH8	38901913	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	5.853000	0.69496	2.333000	0.79357	0.460000	0.39030	CCG		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38793935	C	A	38793935	3	1	47	1	0	0	0	0	1	0	0	0	4609	652	23	4	3298	4	DNAH8	6	38793935	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	10566417	38793935	132321132	51	3448											
TDRD6	221400	broad.mit.edu	37	6	46658406	46658406	+	Silent	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:46658406C>G	ENST00000316081.6	+	1	2541	c.2541C>G	c.(2539-2541)gtC>gtG	p.V847V	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Silent_p.V847V	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	847	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGGAGCATGTCAATGTAACAT	0.398																																																0													108	109	109					6																	46658406		2203	4300	6503	SO:0001819	synonymous_variant	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2541C>G	6.37:g.46658406C>G			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	CCDS34470.1																																																																																				0.398	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		G	46658406	C	G	46658406	2	3	47	1	0	0	0	0	0	0	0	1	15739	813	29	4		4	TDRD6	6	46658406	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08	7864471	46658406	124456661	52	3449											
RWDD2A	112611	broad.mit.edu	37	6	83904237	83904237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:83904237delT	ENST00000369724.4	+	2	272	c.67delT	c.(67-69)tttfs	p.F23fs	PGM3_ENST00000512866.1_5'Flank|PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000513973.1_5'Flank|RWDD2A_ENST00000539997.1_Intron	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	23	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GTTTTCTATGTTTCCTAACCA	0.458																																																0													100	93	95					6																	83904237		2203	4300	6503	SO:0001589	frameshift_variant	112611			BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"RWD domain containing 2"	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.67delT	6.37:g.83904237delT	ENSP00000358739:p.Phe23fs		B4DIQ3|E1P548|Q2M3R3|Q96FH1	Frame_Shift_Del	DEL	ENST00000369724.4	37	CCDS4998.1																																																																																				0.458	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		-	83904237	T	-	83904237	7	5	47	1	0	1	0	1	0	0	0	0	13761	1725	60	0	69	0	RWDD2A	6	83904237	Frame_Shift_Del	DEL	T	TCGA-A3-3331-01A-01W-0886-08	37245831	83904237	87210830	53	3450											
GPNMB	10457	broad.mit.edu	37	7	23306177	23306177	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:23306177G>T	ENST00000381990.2	+	7	1257	c.1096G>T	c.(1096-1098)Gat>Tat	p.D366Y	GPNMB_ENST00000258733.4_Missense_Mutation_p.D354Y|GPNMB_ENST00000539136.1_Missense_Mutation_p.D255Y|GPNMB_ENST00000453162.2_Missense_Mutation_p.D308Y	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	366					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TAGGATTCCTGATGAAAACTG	0.443																																																0													94	83	86					7																	23306177		2203	4300	6503	SO:0001583	missense	10457			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1096G>T	7.37:g.23306177G>T	ENSP00000371420:p.Asp366Tyr		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512598	0.27123	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.15139	2.46;2.45;2.45;2.45	5.89	1.87	0.25490	PKD/Chitinase domain (1);	0.720818	0.13525	N	0.381370	T	0.14227	0.0344	L	0.38838	1.175	0.09310	N	1	B;B;B;D	0.53151	0.113;0.065;0.139;0.958	B;B;B;P	0.51135	0.036;0.055;0.025;0.66	T	0.04961	-1.0915	10	0.02654	T	1	-2.6612	5.2947	0.15747	0.2186:0.0:0.64:0.1414	.	255;308;366;354	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	Y	354;401;366;249;255;308	ENSP00000258733:D354Y;ENSP00000371420:D366Y;ENSP00000445266:D255Y;ENSP00000405586:D308Y	ENSP00000258733:D354Y	D	+	1	0	GPNMB	23272702	0.005000	0.15991	0.000000	0.03702	0.049000	0.14656	1.338000	0.33873	0.404000	0.25506	0.650000	0.86243	GAT		0.443	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		T	23306177	G	T	23306177	3	4	47	1	0	0	0	0	1	0	0	0	6622	1290	45	4	1122	4	GPNMB	7	23306177	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08		23306177	135832486	54	3451											
COBL	23242	broad.mit.edu	37	7	51096418	51096418	+	Missense_Mutation	SNP	G	G	A	rs150697717	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:51096418G>A	ENST00000265136.7	-	10	2540	c.2375C>T	c.(2374-2376)cCc>cTc	p.P792L	COBL_ENST00000395542.2_Missense_Mutation_p.P874L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	792					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGGGGTGGAGGGGGGTCCCCT	0.602																																					NSCLC(189;2119 2138 12223 30818 34679)											0								G	LEU/PRO	5,4401	9.9+/-24.2	0,5,2198	39	45	43		2375	4.6	0	7	dbSNP_134	43	0,8600		0,0,4300	yes	missense	COBL	NM_015198.3	98	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	792/1262	51096418	5,13001	2203	4300	6503	SO:0001583	missense	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2375C>T	7.37:g.51096418G>A	ENSP00000265136:p.Pro792Leu		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.502|5.502	0.277604|0.277604	0.10403|0.10403	0.001135|0.001135	0.0|0.0	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542|ENST00000457306	T;T;T;T|.	0.13420|.	2.61;2.6;2.6;2.59|.	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	1.805370|1.805370	0.03372|0.03372	N|N	0.199094|0.199094	T|T	0.59280|0.59280	0.2182|0.2182	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B|.	0.28128|.	0.039;0.0;0.201;0.001;0.01|.	B;B;B;B;B|.	0.21360|.	0.034;0.002;0.034;0.002;0.004|.	T|T	0.56968|0.56968	-0.7891|-0.7891	10|7	0.46703|0.87932	T|D	0.11|0	.|.	14.9158|14.9158	0.70795|0.70795	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	792;849;792;874;334|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	L|S	792;684;677;874|238	ENSP00000265136:P792L;ENSP00000401204:P684L;ENSP00000413498:P677L;ENSP00000378912:P874L|.	ENSP00000265136:P792L|ENSP00000397300:P238S	P|P	-|-	2|1	0|0	COBL|COBL	51063912|51063912	0.258000|0.258000	0.24033|0.24033	0.022000|0.022000	0.16811|0.16811	0.010000|0.010000	0.07245|0.07245	1.698000|1.698000	0.37794|0.37794	2.374000|2.374000	0.81015|0.81015	0.467000|0.467000	0.42956|0.42956	CCC|CCT		0.602	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		A	51096418	G	A	51096418	3	1	47	1	0	0	0	0	1	0	0	0	3655	1232	43	2	1426	2	COBL	7	51096418	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	27790241	51096418	108042245	55	3452											
SPAM1	6677	broad.mit.edu	37	7	123599588	123599588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:123599588C>A	ENST00000439500.1	+	6	1708	c.1095C>A	c.(1093-1095)taC>taA	p.Y365*	SPAM1_ENST00000460182.1_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000340011.5_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000402183.2_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000223028.7_Nonsense_Mutation_p.Y365*	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	365					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAATCCTTACATAATCAACG	0.373																																																0													94	86	89					7																	123599588		2203	4300	6503	SO:0001587	stop_gained	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1095C>A	7.37:g.123599588C>A	ENSP00000402123:p.Tyr365*		Q8TC30	Nonsense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092384	0.94149	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	.	.	.	5.87	1.95	0.26073	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.5066	9.1875	0.37178	0.0:0.6917:0.0:0.3083	.	.	.	.	X	365	.	ENSP00000223028:Y365X	Y	+	3	2	SPAM1	123386824	0.057000	0.20700	0.283000	0.24790	0.029000	0.11900	0.474000	0.22148	0.139000	0.18822	-0.137000	0.14449	TAC		0.373	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123599588	C	A	123599588	4	1	47	1	0	0	0	0	0	1	0	0	14992	489	17	4	1105	4	SPAM1	7	123599588	Nonsense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	72503170	123599588	35539075	56	3453											
DUSP26	78986	broad.mit.edu	37	8	33449703	33449703	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:33449703C>G	ENST00000256261.4	-	4	981	c.464G>C	c.(463-465)gGc>gCc	p.G155A	DUSP26_ENST00000523956.1_Missense_Mutation_p.G155A	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	155	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TCGGCTCACGCCCACAGCACA	0.577																																																0													93	68	77					8																	33449703		2203	4300	6503	SO:0001583	missense	78986			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.464G>C	8.37:g.33449703C>G	ENSP00000256261:p.Gly155Ala		D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431466	0.83776	.	.	ENSG00000133878	ENST00000256261;ENST00000523956	D;D	0.97066	-4.23;-4.23	4.69	4.69	0.59074	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	H	0.99911	4.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97983	1.0350	10	0.87932	D	0	-23.6961	17.5581	0.87898	0.0:1.0:0.0:0.0	.	155	Q9BV47	DUS26_HUMAN	A	155	ENSP00000256261:G155A;ENSP00000429176:G155A	ENSP00000256261:G155A	G	-	2	0	DUSP26	33569245	1.000000	0.71417	0.973000	0.42090	0.741000	0.42261	7.731000	0.84895	2.322000	0.78497	0.549000	0.68633	GGC		0.577	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025		G	33449703	C	G	33449703	3	3	47	1	0	0	0	0	1	0	0	0	4825	739	26	4	175	4	DUSP26	8	33449703	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08		33449703	112914319	57	3454											
CSMD3	114788	broad.mit.edu	37	8	113694819	113694826	+	Frame_Shift_Del	DEL	TGCATTGA	TGCATTGA	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:113694819_113694826delTGCATTGA	ENST00000297405.5	-	16	2766_2773	c.2522_2529delTCAATGCA	c.(2521-2529)atcaatgcafs	p.INA841fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.INA801fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.INA841fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.INA737fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	841	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I841M(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAACCGCCGTGCATTGATTGGTATTCC	0.356										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	central_nervous_system(1)																																								SO:0001589	frameshift_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2522_2529delTCAATGCA	8.37:g.113694819_113694826delTGCATTGA	ENSP00000297405:p.Ile841fs		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	CCDS6315.1																																																																																				0.356	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		-	113694826	TGCATTGA	-	113694819	7	5	47	1	0	1	0	1	0	0	0	0	3948	1683	59	0	8818	0	CSMD3	8	113694819	Frame_Shift_Del	DEL	TGCATTGA	TCGA-A3-3331-01A-01W-0886-08	80245116	113694819	32669203	58	3455											
EFR3A	23167	broad.mit.edu	37	8	132998475	132998475	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:132998475T>A	ENST00000254624.5	+	17	2129	c.1904T>A	c.(1903-1905)tTt>tAt	p.F635Y	EFR3A_ENST00000334503.4_Missense_Mutation_p.F635Y|EFR3A_ENST00000519656.1_Missense_Mutation_p.F599Y	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	635						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCCCCTTATTTTCTACCAGAG	0.313																																																0													86	84	85					8																	132998475		2203	4294	6497	SO:0001583	missense	23167			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1904T>A	8.37:g.132998475T>A	ENSP00000254624:p.Phe635Tyr		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753777	0.69648	.	.	ENSG00000132294	ENST00000254624;ENST00000407309;ENST00000334503;ENST00000519656	T;T;T	0.33216	1.42;1.42;1.42	5.87	5.87	0.94306	.	0.049161	0.85682	D	0.000000	T	0.40619	0.1124	L	0.44542	1.39	0.54753	D	0.999988	P	0.43973	0.823	P	0.52109	0.69	T	0.08973	-1.0696	10	0.40728	T	0.16	-30.7985	15.1203	0.72438	0.0:0.0:0.0:1.0	.	635	Q14156	EFR3A_HUMAN	Y	635;14;635;599	ENSP00000254624:F635Y;ENSP00000334769:F635Y;ENSP00000428086:F599Y	ENSP00000254624:F635Y	F	+	2	0	EFR3A	133067657	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.648000	0.74359	2.236000	0.73375	0.528000	0.53228	TTT		0.313	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		A	132998475	T	A	132998475	3	1	47	1	0	0	0	0	1	0	0	0	4960	1841	64	5	1970	5	EFR3A	8	132998475	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	19303656	132998475	13365547	59	3456											
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K|ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413																																																0													77	77	77					8																	144733541		2203	4300	6503	SO:0001583	missense	9831			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1499C>A	8.37:g.144733541C>A	ENSP00000445979:p.Thr500Lys		A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	CCDS34957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.25|11.25	1.581994|1.581994	0.28180|0.28180	.|.	.|.	ENSG00000183309|ENSG00000183309	ENST00000328466|ENST00000526926;ENST00000458270;ENST00000532796;ENST00000501748	.|T;T;T	.|0.60424	.|0.19;0.19;0.19	4.3|4.3	3.4|3.4	0.38934|0.38934	.|Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.35038|0.35038	0.0918|0.0918	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.23650	.|0.089	.|B	.|0.14023	.|0.01	T|T	0.09684|0.09684	-1.0663|-1.0663	6|8	0.72032|.	D|.	0.01|.	-1.5887|-1.5887	7.2014|7.2014	0.25883|0.25883	0.0:0.7908:0.0:0.2092|0.0:0.7908:0.0:0.2092	.|.	.|500	.|O75123	.|ZN623_HUMAN	K|K	460|460;460;500;500	.|ENSP00000435232:T460K;ENSP00000411139:T460K;ENSP00000445979:T500K	ENSP00000330358:Q460K|.	Q|T	+|+	1|2	0|0	ZNF623|ZNF623	144804684|144804684	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.029000|0.029000	0.11900|0.11900	1.225000|1.225000	0.32551|0.32551	2.115000|2.115000	0.64714|0.64714	0.491000|0.491000	0.48974|0.48974	CAA|ACA		0.413	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		A	144733541	C	A	144733541	3	1	47	1	0	0	0	0	1	0	0	0	18052	478	17	4	1501	4	ZNF623	8	144733541	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	11735066	144733541	1630481	60	3457											
NAA35	60560	broad.mit.edu	37	9	88624791	88624791	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr9:88624791A>G	ENST00000361671.5	+	15	1368	c.1235A>G	c.(1234-1236)tAt>tGt	p.Y412C		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	412					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TGCTACCTATATAATAATCAC	0.388																																																0													226	216	220					9																	88624791		2203	4300	6503	SO:0001583	missense	60560			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1235A>G	9.37:g.88624791A>G	ENSP00000354972:p.Tyr412Cys		Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217284	0.39201	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.03	5.03	0.67393	.	0.227351	0.38111	N	0.001813	T	0.41236	0.1150	N	0.19112	0.55	0.80722	D	1	P	0.44344	0.833	B	0.42188	0.379	T	0.35574	-0.9783	9	0.38643	T	0.18	-14.4691	15.0514	0.71872	1.0:0.0:0.0:0.0	.	412	Q5VZE5	NAA35_HUMAN	C	412	.	ENSP00000354972:Y412C	Y	+	2	0	NAA35	87814611	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.764000	0.74960	2.025000	0.59659	0.533000	0.62120	TAT		0.388	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		G	88624791	A	G	88624791	3	3	47	1	0	0	0	0	1	0	0	0	10125	449	16	3	1289	3	NAA35	9	88624791	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08		88624791	52588640	61	3458											
ZNF510	22869	broad.mit.edu	37	9	99521470	99521470	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr9:99521470C>A	ENST00000375231.1	-	6	2292	c.1642G>T	c.(1642-1644)Gaa>Taa	p.E548*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.E548*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTTTCACATTCATTACACTGG	0.383																																																0													125	127	126					9																	99521470		2203	4300	6503	SO:0001587	stop_gained	22869			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1642G>T	9.37:g.99521470C>A	ENSP00000364379:p.Glu548*		Q5SZP5	Nonsense_Mutation	SNP	ENST00000375231.1	37	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	C	40	8.392849	0.98791	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	.	.	.	3.02	0.0738	0.14392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	4.6415	0.12550	0.0:0.5897:0.1866:0.2237	.	.	.	.	X	548	.	ENSP00000223428:E548X	E	-	1	0	ZNF510	98561291	0.000000	0.05858	0.024000	0.17045	0.761000	0.43186	-0.036000	0.12185	0.004000	0.14682	0.655000	0.94253	GAA		0.383	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		A	99521470	C	A	99521470	4	1	47	1	0	0	0	0	0	1	0	0	17959	835	29	4	413	4	ZNF510	9	99521470	Nonsense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	10896679	99521470	41691961	62	3459											
ZNF79	7633	broad.mit.edu	37	9	130206485	130206485	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr9:130206485C>T	ENST00000342483.5	+	5	912	c.506C>T	c.(505-507)cCt>cTt	p.P169L	ZNF79_ENST00000543471.1_Missense_Mutation_p.P145L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAAGCGAGACCTCGCAAATGT	0.522																																																0													112	103	106					9																	130206485		2203	4300	6503	SO:0001583	missense	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.506C>T	9.37:g.130206485C>T	ENSP00000362446:p.Pro169Leu		Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	C	6.406	0.443072	0.12164	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.19806	2.12;2.12	3.77	0.627	0.17675	.	.	.	.	.	T	0.17619	0.0423	L	0.49126	1.545	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23404	-1.0189	9	0.37606	T	0.19	.	6.9892	0.24745	0.0:0.6368:0.0:0.3632	.	169	Q15937	ZNF79_HUMAN	L	169;145	ENSP00000362446:P169L;ENSP00000438418:P145L	ENSP00000362446:P169L	P	+	2	0	ZNF79	129246306	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	1.167000	0.31847	0.303000	0.22785	-0.136000	0.14681	CCT		0.522	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		T	130206485	C	T	130206485	3	4	47	1	0	0	0	0	1	0	0	0	18166	681	24	2	524	2	ZNF79	9	130206485	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	30685015	130206485	11006946	63	3460											
LYZL1	84569	broad.mit.edu	37	10	29580865	29580865	+	Silent	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:29580865T>A	ENST00000375500.3	+	2	264	c.207T>A	c.(205-207)acT>acA	p.T69T		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	23					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AAATCTACACTCGTTGCAAAC	0.532																																																0													54	43	47					10																	29580865		2198	4268	6466	SO:0001819	synonymous_variant	84569				CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.207T>A	10.37:g.29580865T>A			Q5T921|Q8WW16	Silent	SNP	ENST00000375500.3	37	CCDS31174.1																																																																																				0.532	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		A	29580865	T	A	29580865	2	1	47	1	0	0	0	0	0	0	0	1	9133	1538	54	5		5	LYZL1	10	29580865	Silent	SNP	T	TCGA-A3-3331-01A-01W-0886-08		29580865	105953882	64	3461											
KIAA1462	57608	broad.mit.edu	37	10	30315600	30315600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:30315600delA	ENST00000375377.1	-	3	3578	c.3477delT	c.(3475-3477)tttfs	p.F1159fs		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1159					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGTCCCCTACAAAGAGAGGGC	0.602																																																0													62	65	64					10																	30315600		1890	4119	6009	SO:0001589	frameshift_variant	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3477delT	10.37:g.30315600delA	ENSP00000364526:p.Phe1159fs		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Frame_Shift_Del	DEL	ENST00000375377.1	37	CCDS41500.1																																																																																				0.602	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		-	30315600	A	-	30315600	7	5	47	1	0	1	0	1	0	0	0	0	8236	127	5	0	610	0	KIAA1462	10	30315600	Frame_Shift_Del	DEL	A	TCGA-A3-3331-01A-01W-0886-08	734735	30315600	105219147	65	3462											
HPS6	79803	broad.mit.edu	37	10	103826147	103826147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:103826147G>T	ENST00000299238.5	+	1	1001	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	306					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CACCCTGCAGGAGGCACCTGT	0.652									Hermansky-Pudlak syndrome																																							0													47	53	51					10																	103826147		2203	4300	6503	SO:0001587	stop_gained	79803	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.916G>T	10.37:g.103826147G>T	ENSP00000299238:p.Glu306*		Q5VV69|Q9H685	Nonsense_Mutation	SNP	ENST00000299238.5	37	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115056	0.94339	.	.	ENSG00000166189	ENST00000299238	.	.	.	5.17	4.2	0.49525	.	0.465675	0.22147	N	0.063980	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-12.9006	14.5067	0.67758	0.0:0.0:0.8441:0.1559	.	.	.	.	X	306	.	ENSP00000299238:E306X	E	+	1	0	HPS6	103816137	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	4.780000	0.62382	2.681000	0.91329	0.561000	0.74099	GAG		0.652	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		T	103826147	G	T	103826147	4	4	47	1	0	0	0	0	0	1	0	0	7345	1175	41	4	918	4	HPS6	10	103826147	Nonsense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	73510547	103826147	31708600	66	3463											
NRAP	4892	broad.mit.edu	37	10	115422479	115422479	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:115422479A>C	ENST00000359988.3	-	3	458	c.214T>G	c.(214-216)Tta>Gta	p.L72V	NRAP_ENST00000369358.4_Missense_Mutation_p.L72V|NRAP_ENST00000369360.3_Missense_Mutation_p.L72V|NRAP_ENST00000360478.3_Missense_Mutation_p.L72V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTTAGATTTAATGGAGTGTGA	0.368																																																0													138	129	132					10																	115422479		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.214T>G	10.37:g.115422479A>C	ENSP00000353078:p.Leu72Val			Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	2.528	-0.309253	0.05458	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.16743	2.52;2.52;2.41;2.32	5.53	5.53	0.82687	.	0.149208	0.47455	D	0.000225	T	0.08537	0.0212	N	0.20530	0.585	0.32593	N	0.526884	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.14023	0.007;0.01;0.006	T	0.23084	-1.0198	10	0.02654	T	1	.	7.1177	0.25427	0.6242:0.2461:0.0:0.1297	.	72;72;72	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	72	ENSP00000358365:L72V;ENSP00000358367:L72V;ENSP00000353078:L72V;ENSP00000353666:L72V	ENSP00000353078:L72V	L	-	1	2	NRAP	115412469	0.022000	0.18835	0.986000	0.45419	0.389000	0.30415	0.290000	0.18975	2.240000	0.73641	0.528000	0.53228	TTA		0.368	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		C	115422479	A	C	115422479	3	2	47	1	0	0	0	0	1	0	0	0	10640	98	4	5	5138	5	NRAP	10	115422479	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	11596332	115422479	20112268	67	3464											
EIF3A	8661	broad.mit.edu	37	10	120801997	120801997	+	Missense_Mutation	SNP	G	G	A	rs372236521	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:120801997G>A	ENST00000369144.3	-	19	3162	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCATCATCCGCATGACGCCA	0.572													.|||	2	0.000399361	0.0015	0.0	5008	,	,		17321	0.0		0.0	False		,,,				2504	0.0															0								G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	297	222	247		3035	0.5	0	10		247	0,8600		0,0,4300	no	missense	EIF3A	NM_003750.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	1012/1383	120801997	2,13004	2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3035C>T	10.37:g.120801997G>A	ENSP00000358140:p.Ala1012Val		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717526	0.03182	4.54E-4	0.0	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.24151	1.87;1.87	5.91	0.478	0.16789	.	1.821580	0.04002	N	0.296629	T	0.23133	0.0559	L	0.48642	1.525	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.0	T	0.21484	-1.0244	10	0.30078	T	0.28	0.1809	5.8168	0.18497	0.2967:0.3625:0.3408:0.0	.	978;1012	F5H335;Q14152	.;EIF3A_HUMAN	V	1012;978	ENSP00000358140:A1012V;ENSP00000438178:A978V	ENSP00000358140:A1012V	A	-	2	0	EIF3A	120791987	0.000000	0.05858	0.001000	0.08648	0.323000	0.28346	0.258000	0.18387	-0.167000	0.10871	-0.137000	0.14449	GCG		0.572	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		A	120801997	G	A	120801997	3	1	47	1	0	0	0	0	1	0	0	0	5014	1087	38	1	1129	1	EIF3A	10	120801997	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	5379518	120801997	14732750	68	3465											
PSMD13	5719	broad.mit.edu	37	11	251910	251910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:251910C>T	ENST00000532097.1	+	12	1513	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	PSMD13_ENST00000352303.5_Nonsense_Mutation_p.Q310*|PSMD13_ENST00000431206.2_Nonsense_Mutation_p.Q339*|PSMD13_ENST00000532025.1_3'UTR	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	337					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)|meiosis I (GO:0007127)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		GACCTGGGTGCAGCCCCGAGT	0.502																																																0													168	167	167					11																	251910		2203	4300	6503	SO:0001587	stop_gained	5719			AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"Proteasome (prosome, macropain) subunits"	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.1009C>T	11.37:g.251910C>T	ENSP00000436186:p.Gln337*		B3KT15|O75831|Q53XU2|Q9UNV3	Nonsense_Mutation	SNP	ENST00000532097.1	37	CCDS7692.1	.	.	.	.	.	.	.	.	.	.	C	41	9.052015	0.99050	.	.	ENSG00000185627	ENST00000532097;ENST00000538343;ENST00000431206;ENST00000352303	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	17.2159	0.86944	0.0:1.0:0.0:0.0	.	.	.	.	X	337;272;339;310	.	ENSP00000333811:Q310X	Q	+	1	0	PSMD13	241910	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.185000	0.77714	2.643000	0.89663	0.563000	0.77884	CAG		0.502	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239286.2	NM_002817		T	251910	C	T	251910	4	4	47	1	0	0	0	0	0	1	0	0	12701	711	25	2	1136	2	PSMD13	11	251910	Nonsense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08		251910	134754606	69	3466											
OR52I2	143502	broad.mit.edu	37	11	4608123	4608123	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:4608123G>A	ENST00000312614.4	+	1	103	c.81G>A	c.(79-81)atG>atA	p.M27I		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTTGTGATGCTGGGTCCAG	0.453																																																0													140	130	134					11																	4608123		2201	4298	6499	SO:0001583	missense	143502			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.81G>A	11.37:g.4608123G>A	ENSP00000308764:p.Met27Ile		B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	6.757	0.508465	0.12883	.	.	ENSG00000226288	ENST00000312614	T	0.00594	6.33	3.96	3.02	0.34903	.	0.000000	0.48286	D	0.000195	T	0.00637	0.0021	L	0.49126	1.545	0.30054	N	0.811485	B	0.09022	0.002	B	0.08055	0.003	T	0.30679	-0.9970	10	0.54805	T	0.06	-22.8743	4.6661	0.12666	0.1138:0.0:0.6679:0.2184	.	27	Q8NH67	O52I2_HUMAN	I	27	ENSP00000308764:M27I	ENSP00000308764:M27I	M	+	3	0	OR52I2	4564699	1.000000	0.71417	0.986000	0.45419	0.150000	0.21749	2.826000	0.48104	0.824000	0.34613	0.557000	0.71058	ATG		0.453	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		A	4608123	G	A	4608123	3	1	47	1	0	0	0	0	1	0	0	0	11123	1319	46	2	83	2	OR52I2	11	4608123	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	4356213	4608123	130398393	70	3467											
GALNTL4	374378	broad.mit.edu	37	11	11400753	11400753	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:11400753G>T	ENST00000227756.4	-	4	1065	c.654C>A	c.(652-654)ggC>ggA	p.G218G		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	218	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CTTTGATGAAGCCTGGCTTCT	0.572																																																0													166	135	146					11																	11400753		2201	4294	6495	SO:0001819	synonymous_variant	374378			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.654C>A	11.37:g.11400753G>T			O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	CCDS7807.1																																																																																				0.572	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		T	11400753	G	T	11400753	2	4	47	1	0	0	0	0	0	0	0	1	6225	958	34	4		4	GALNTL4	11	11400753	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08	6792630	11400753	123605763	71	3468											
MRGPRX3	117195	broad.mit.edu	37	11	18159679	18159679	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:18159679G>C	ENST00000396275.2	+	3	1291	c.930G>C	c.(928-930)caG>caC	p.Q310H		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGCTTCCTCAGGAAACCCTGG	0.572																																																0													39	42	41					11																	18159679		2200	4293	6493	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.930G>C	11.37:g.18159679G>C	ENSP00000379571:p.Gln310His		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	5.258	0.233063	0.09969	.	.	ENSG00000179826	ENST00000396275	T	0.24151	1.87	1.3	0.296	0.15757	.	1.321610	0.05147	N	0.495389	T	0.22551	0.0544	L	0.46157	1.445	0.09310	N	1	B	0.22146	0.065	B	0.24269	0.052	T	0.32745	-0.9895	10	0.49607	T	0.09	.	3.6681	0.08264	0.2758:0.0:0.7242:0.0	.	310	Q96LB0	MRGX3_HUMAN	H	310	ENSP00000379571:Q310H	ENSP00000379571:Q310H	Q	+	3	2	MRGPRX3	18116255	0.013000	0.17824	0.007000	0.13788	0.082000	0.17680	0.181000	0.16880	0.092000	0.17331	0.195000	0.17529	CAG		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		C	18159679	G	C	18159679	3	2	47	1	0	0	0	0	1	0	0	0	9770	991	35	4	932	4	MRGPRX3	11	18159679	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	6758926	18159679	116846837	72	3469											
C11orf41	25758	broad.mit.edu	37	11	33640144	33640144	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:33640144C>T	ENST00000321505.4	+	15	4634	c.4454C>T	c.(4453-4455)aCc>aTc	p.T1485I	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T1491I			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1485						integral component of membrane (GO:0016021)											CCAGGGGAAACCGAGATGGAC	0.527																																																0													33	34	34					11																	33640144		1874	4097	5971	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4454C>T	11.37:g.33640144C>T	ENSP00000315295:p.Thr1485Ile		B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008699	0.93346	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.3	5.3	0.74995	.	0.134270	0.47852	D	0.000209	T	0.77678	0.4166	L	0.60455	1.87	0.47065	D	0.999304	D	0.89917	1.0	D	0.91635	0.999	T	0.79019	-0.1974	9	0.72032	D	0.01	-16.5849	19.3095	0.94179	0.0:1.0:0.0:0.0	.	1491	E9PAT2	.	I	1485;1491;1324	.	ENSP00000315295:T1485I	T	+	2	0	C11orf41	33596720	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	7.445000	0.80570	2.624000	0.88883	0.561000	0.74099	ACC		0.527	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		T	33640144	C	T	33640144	3	4	47	1	0	0	0	0	1	0	0	0	1642	507	18	2	4530	2	C11orf41	11	33640144	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	15480465	33640144	101366372	73	3470											
TTC17	55761	broad.mit.edu	37	11	43465114	43465114	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:43465114G>C	ENST00000039989.4	+	17	2505	c.2491G>C	c.(2491-2493)Gat>Cat	p.D831H	TTC17_ENST00000299240.6_Missense_Mutation_p.D888H|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	831					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGAAGTGAAGATGATGAAGC	0.468																																																0													72	66	68					11																	43465114		2203	4300	6503	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2491G>C	11.37:g.43465114G>C	ENSP00000039989:p.Asp831His		G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871518	0.91587	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.53857	0.6;0.85	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.998;0.994	T	0.65467	-0.6161	10	0.56958	D	0.05	-20.6377	20.1891	0.98225	0.0:0.0:1.0:0.0	.	888;831;888	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	H	888;831	ENSP00000299240:D888H;ENSP00000039989:D831H	ENSP00000039989:D831H	D	+	1	0	TTC17	43421690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.979000	0.93455	2.787000	0.95880	0.650000	0.86243	GAT		0.468	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		C	43465114	G	C	43465114	3	2	47	1	0	0	0	0	1	0	0	0	16689	942	33	4	2557	4	TTC17	11	43465114	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	9824970	43465114	91541402	74	3471											
CKAP5	9793	broad.mit.edu	37	11	46786750	46786750	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:46786750T>A	ENST00000529230.1	-	28	3514	c.3468A>T	c.(3466-3468)aaA>aaT	p.K1156N	CKAP5_ENST00000312055.5_Missense_Mutation_p.K1156N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K1156N|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.K1156N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1156					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TAGGCCCGGATTTGTCTTCAT	0.408																																					Ovarian(4;85 273 2202 4844 13323)											0													196	178	184					11																	46786750		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3468A>T	11.37:g.46786750T>A	ENSP00000432768:p.Lys1156Asn		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696813	0.30142	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.49139	0.8;0.79;0.81;0.81	5.5	1.49	0.22878	Armadillo-type fold (1);	0.044515	0.85682	D	0.000000	T	0.58666	0.2138	M	0.66939	2.045	0.45634	D	0.998562	B;D;B	0.69078	0.397;0.997;0.411	B;D;B	0.71656	0.371;0.974;0.145	T	0.55042	-0.8202	10	0.18276	T	0.48	-7.4076	10.1912	0.43028	0.0:0.2213:0.0:0.7787	.	1156;1156;1156	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	N	1156	ENSP00000432768:K1156N;ENSP00000395302:K1156N;ENSP00000310227:K1156N;ENSP00000346566:K1156N	ENSP00000310227:K1156N	K	-	3	2	CKAP5	46743326	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.375000	0.34295	0.397000	0.25310	0.460000	0.39030	AAA		0.408	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		A	46786750	T	A	46786750	3	1	47	1	0	0	0	0	1	0	0	0	3447	1490	52	5	2698	5	CKAP5	11	46786750	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	3321636	46786750	88219766	75	3472											
OR4C15	81309	broad.mit.edu	37	11	55322748	55322748	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:55322748A>T	ENST00000314644.2	+	1	966	c.966A>T	c.(964-966)aaA>aaT	p.K322N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCCTTGACAAAATGGCGGCAA	0.388										HNSCC(20;0.049)																																						0													203	201	201					11																	55322748		2201	4296	6497	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.966A>T	11.37:g.55322748A>T	ENSP00000324958:p.Lys322Asn		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.674893	0.29783	.	.	ENSG00000181939	ENST00000314644	T	0.00207	8.55	5.02	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00695	0.0023	H	0.94345	3.525	0.20196	N	0.999927	D	0.89917	1.0	D	0.97110	1.0	T	0.34875	-0.9811	9	0.87932	D	0	.	7.8614	0.29511	0.7175:0.0:0.2825:0.0	.	268	Q8NGM1	OR4CF_HUMAN	N	322	ENSP00000324958:K322N	ENSP00000324958:K322N	K	+	3	2	OR4C15	55079324	0.000000	0.05858	0.258000	0.24420	0.083000	0.17756	-0.105000	0.10907	0.018000	0.15052	0.317000	0.21355	AAA		0.388	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		T	55322748	A	T	55322748	3	4	47	1	0	0	0	0	1	0	0	0	11050	11	1	5	968	5	OR4C15	11	55322748	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	8535998	55322748	79683768	76	3473											
PATL1	219988	broad.mit.edu	37	11	59425092	59425092	+	Missense_Mutation	SNP	T	T	C	rs375423950		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:59425092T>C	ENST00000300146.9	-	5	616	c.532A>G	c.(532-534)Act>Gct	p.T178A		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	178	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATAGGTGAAGTTGACCGCCTT	0.527																																																0								T	ALA/THR	0,3818		0,0,1909	125	118	120		532	5.6	0.5	11		120	1,8239		0,1,4119	no	missense	PATL1	NM_152716.2	58	0,1,6028	CC,CT,TT		0.0121,0.0,0.0083	possibly-damaging	178/771	59425092	1,12057	1909	4120	6029	SO:0001583	missense	219988			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.532A>G	11.37:g.59425092T>C	ENSP00000300146:p.Thr178Ala		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.834080	0.32421	0.0	1.21E-4	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.45276	0.9	5.64	5.64	0.86602	.	0.177262	0.47852	D	0.000212	T	0.33527	0.0866	L	0.43152	1.355	0.37533	D	0.918013	B;B	0.25351	0.102;0.124	B;B	0.31016	0.075;0.123	T	0.20739	-1.0266	10	0.08599	T	0.76	-15.6315	10.5912	0.45310	0.1806:0.0:0.0:0.8194	.	178;178	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	A	178	ENSP00000300146:T178A	ENSP00000300146:T178A	T	-	1	0	PATL1	59181668	0.997000	0.39634	0.542000	0.28115	0.998000	0.95712	3.188000	0.50958	2.144000	0.66660	0.533000	0.62120	ACT		0.527	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		C	59425092	T	C	59425092	3	2	47	1	0	0	0	0	1	0	0	0	11477	1725	60	3	1840	3	PATL1	11	59425092	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	4102344	59425092	75581424	77	3474											
HNRNPUL2	221092	broad.mit.edu	37	11	62491447	62491447	+	Silent	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:62491447C>A	ENST00000301785.5	-	3	882	c.690G>T	c.(688-690)ctG>ctT	p.L230L	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.L230L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	230	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTCAGGAGGCAGTGGAGACT	0.403																																																0													152	144	147					11																	62491447		1954	4156	6110	SO:0001819	synonymous_variant	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.690G>T	11.37:g.62491447C>A			Q8N3B3	Silent	SNP	ENST00000301785.5	37	CCDS41659.1																																																																																				0.403	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		A	62491447	C	A	62491447	2	1	47	1	0	0	0	0	0	0	0	1	7277	697	25	4		4	HNRNPUL2	11	62491447	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08	3066355	62491447	72515069	78	3475											
PRCP	5547	broad.mit.edu	37	11	82550318	82550319	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:82550318_82550319delCA	ENST00000313010.3	-	7	1264_1265	c.1070_1071delTG	c.(1069-1071)ctgfs	p.L357fs	PRCP_ENST00000393399.2_Frame_Shift_Del_p.L378fs|PRCP_ENST00000535099.1_Frame_Shift_Del_p.L252fs|PRCP_ENST00000525772.1_5'UTR	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	357					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGCTCCAACCCAGTGTTCCCAG	0.386																																																0																																										SO:0001589	frameshift_variant	5547			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1070_1071delTG	11.37:g.82550318_82550319delCA	ENSP00000317362:p.Leu357fs		A8MU24|B2R7B7|B3KRK5|B5BU34	Frame_Shift_Del	DEL	ENST00000313010.3	37	CCDS8262.1																																																																																				0.386	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		-	82550319	CA	-	82550318	7	5	47	1	0	1	0	1	0	0	0	0	12454	581	21	0	431	0	PRCP	11	82550318	Frame_Shift_Del	DEL	CA	TCGA-A3-3331-01A-01W-0886-08	20058871	82550318	52456198	79	3476											
TYR	7299	broad.mit.edu	37	11	88911925	88911925	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:88911925C>A	ENST00000263321.5	+	1	1306	c.804C>A	c.(802-804)ttC>ttA	p.F268L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	268					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CAGCATCATTCTTCTCCTCTT	0.463																																																0													100	84	89					11																	88911925		2201	4299	6500	SO:0001583	missense	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.804C>A	11.37:g.88911925C>A	ENSP00000263321:p.Phe268Leu		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267379	0.40095	.	.	ENSG00000077498	ENST00000263321	D	0.95949	-3.86	6.07	6.07	0.98685	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.138602	0.64402	D	0.000003	D	0.93733	0.7997	L	0.55103	1.725	0.46654	D	0.999147	P	0.37548	0.599	B	0.39503	0.301	D	0.91969	0.5585	9	.	.	.	.	14.2203	0.65823	0.0:0.9239:0.0:0.0761	.	268	P14679	TYRO_HUMAN	L	268	ENSP00000263321:F268L	.	F	+	3	2	TYR	88551573	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.781000	0.38644	2.885000	0.99019	0.655000	0.94253	TTC		0.463	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		A	88911925	C	A	88911925	3	1	47	1	0	0	0	0	1	0	0	0	16818	912	32	4	806	4	TYR	11	88911925	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	6361607	88911925	46094591	80	3477											
ZBTB44	29068	broad.mit.edu	37	11	130131510	130131510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:130131510C>A	ENST00000357899.4	-	2	531	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	ZBTB44_ENST00000397753.1_Nonsense_Mutation_p.E87*|ZBTB44_ENST00000530205.1_Nonsense_Mutation_p.E87*|ZBTB44_ENST00000525842.1_Nonsense_Mutation_p.E87*			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	87	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E87Q(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TAAGCATATTCTAAAAGAGGT	0.408																																																1	Substitution - Missense(1)	lung(1)											82	85	84					11																	130131510		1948	4144	6092	SO:0001587	stop_gained	29068			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.259G>T	11.37:g.130131510C>A	ENSP00000350574:p.Glu87*		Q6IPT8|Q86VJ7|Q86XX5	Nonsense_Mutation	SNP	ENST00000357899.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.763628|5.763628	0.96906|0.96906	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205|ENST00000527478	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81108	.|0.4754	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78437	.|-0.2204	.|3	0.87932|.	D|.	0|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	87|83	.|.	ENSP00000350574:E87X|.	E|R	-|-	1|2	0|0	ZBTB44|ZBTB44	129636720|129636720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.456000|7.456000	0.80751|0.80751	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.408	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		A	130131510	C	A	130131510	4	1	47	1	0	0	0	0	0	1	0	0	17550	922	32	4	1122	4	ZBTB44	11	130131510	Nonsense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	41219585	130131510	4875006	81	3478											
B4GALNT3	283358	broad.mit.edu	37	12	658990	658990	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:658990C>T	ENST00000266383.5	+	10	922	c.909C>T	c.(907-909)agC>agT	p.S303S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	303					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGCAGCCAGCCACGTGGACT	0.632																																																0													59	59	59					12																	658990		2203	4300	6503	SO:0001819	synonymous_variant	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.909C>T	12.37:g.658990C>T			Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	CCDS8504.1																																																																																				0.632	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		T	658990	C	T	658990	2	4	47	1	0	0	0	0	0	0	0	1	1268	738	26	2		2	B4GALNT3	12	658990	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08		658990	133192905	82	3479											
WNK1	65125	broad.mit.edu	37	12	1009828	1009828	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:1009828C>A	ENST00000315939.6	+	26	7278	c.6635C>A	c.(6634-6636)cCa>cAa	p.P2212Q	WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q|WNK1_ENST00000537687.1_Missense_Mutation_p.P2472Q|WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2212					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.P2212Q(1)|p.P2472Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTCTGCTCCAGGTCAAGGT	0.473																																					Colon(19;451 567 6672 12618 28860)											2	Substitution - Missense(2)	lung(2)											207	193	197					12																	1009828		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6635C>A	12.37:g.1009828C>A	ENSP00000313059:p.Pro2212Gln		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791277	0.50102	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000537501;ENST00000340908;ENST00000543065	T;T;T;T;T	0.73258	-0.73;-0.69;-0.68;-0.73;0.46	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000017	T	0.47303	0.1438	N	0.03608	-0.345	0.34754	D	0.732084	P;B;B	0.40431	0.717;0.383;0.264	B;B;B	0.37198	0.243;0.095;0.044	T	0.63305	-0.6667	10	0.41790	T	0.15	-12.7775	13.7811	0.63084	0.1533:0.8467:0.0:0.0	.	1965;1964;2212	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	Q	1964;2212;2472;1385;2710;154;1805;22	ENSP00000441972:P1964Q;ENSP00000313059:P2212Q;ENSP00000444465:P2472Q;ENSP00000433548:P2710Q;ENSP00000341292:P1805Q	ENSP00000252477:P1385Q	P	+	2	0	WNK1	880089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.348000	0.59379	2.688000	0.91661	0.563000	0.77884	CCA		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		A	1009828	C	A	1009828	3	1	47	1	0	0	0	0	1	0	0	0	17382	594	21	4	8239	4	WNK1	12	1009828	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	350838	1009828	132842067	83	3480											
CACNA1C	775	broad.mit.edu	37	12	2800282	2800282	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:2800282G>T	ENST00000347598.4	+	49	6478	c.6478G>T	c.(6478-6480)Gag>Tag	p.E2160*	CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.E2137*|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.E2147*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.E2118*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.E2120*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.E2140*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.E2147*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.E2153*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.E2183*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.E2120*|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.E2183*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.E2129*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.E2132*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.E2112*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2195					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGGGGCGAAGAGGACGCGGG	0.692																																																0													18	24	22					12																	2800282		1943	4113	6056	SO:0001587	stop_gained	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6478G>T	12.37:g.2800282G>T	ENSP00000266376:p.Glu2160*		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Nonsense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	47	13.218725	0.99728	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	4.49	3.57	0.40892	.	0.571672	0.17895	N	0.158385	.	.	.	.	.	.	0.48975	D	0.999739	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	9.8568	0.41090	0.0:0.1521:0.6901:0.1577	.	.	.	.	X	2137;2112;2112;2140;2112;2131;2131;2120;2112;2160;2132;2112;2153;2129;2147;2118;2131;2112;2183;2147;2183;2120;2013	.	ENSP00000323129:E2013X	E	+	1	0	CACNA1C	2670543	1.000000	0.71417	0.618000	0.29105	0.864000	0.49448	3.874000	0.56101	1.211000	0.43351	0.591000	0.81541	GAG		0.692	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2800282	G	T	2800282	4	4	47	1	0	0	0	0	0	1	0	0	2542	943	33	4	7229	4	CACNA1C	12	2800282	Nonsense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	1790454	2800282	131051613	84	3481											
SLCO1C1	53919	broad.mit.edu	37	12	20874920	20874920	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:20874920G>A	ENST00000266509.2	+	8	1326	c.958G>A	c.(958-960)Gat>Aat	p.D320N	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D320N|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.D320N|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D202N|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D271N	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	320					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GTTTATTATAGATGATCACAC	0.358																																																0													54	57	56					12																	20874920		2202	4300	6502	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.958G>A	12.37:g.20874920G>A	ENSP00000266509:p.Asp320Asn		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666031	0.29604	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.52	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.887861	0.10067	N	0.720179	T	0.37785	0.1016	L	0.38175	1.15	0.22081	N	0.999372	B;B;B;B	0.25850	0.066;0.136;0.005;0.001	B;B;B;B	0.35312	0.124;0.2;0.012;0.016	T	0.36625	-0.9740	10	0.30854	T	0.27	.	9.9001	0.41342	0.078:0.1394:0.7826:0.0	.	202;271;320;320	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	N	320;271;320;320;202	ENSP00000444149:D320N;ENSP00000438665:D271N;ENSP00000266509:D320N;ENSP00000370964:D320N;ENSP00000444527:D202N	ENSP00000266509:D320N	D	+	1	0	SLCO1C1	20766187	1.000000	0.71417	0.655000	0.29622	0.811000	0.45836	3.497000	0.53295	1.247000	0.43917	0.563000	0.77884	GAT		0.358	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		A	20874920	G	A	20874920	3	1	47	1	0	0	0	0	1	0	0	0	14731	942	33	2	984	2	SLCO1C1	12	20874920	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	18074638	20874920	112976975	85	3482	41	2									
SLCO1C1	53919	broad.mit.edu	37	12	20874921	20874921	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:20874921A>G	ENST00000266509.2	+	8	1327	c.959A>G	c.(958-960)gAt>gGt	p.D320G	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D320G|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.D320G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D202G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D271G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	320					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTTATTATAGATGATCACACA	0.358																																																0													54	56	56					12																	20874921		2202	4300	6502	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.959A>G	12.37:g.20874921A>G	ENSP00000266509:p.Asp320Gly		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738499	0.30774	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.52	3.37	0.38596	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.887861	0.10067	N	0.720179	T	0.30262	0.0759	N	0.21448	0.665	0.24271	N	0.995242	B;B;B;B	0.13145	0.007;0.002;0.003;0.001	B;B;B;B	0.20384	0.029;0.003;0.008;0.001	T	0.23583	-1.0184	10	0.30854	T	0.27	.	10.0744	0.42351	0.92:0.0:0.08:0.0	.	202;271;320;320	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	G	320;271;320;320;202	ENSP00000444149:D320G;ENSP00000438665:D271G;ENSP00000266509:D320G;ENSP00000370964:D320G;ENSP00000444527:D202G	ENSP00000266509:D320G	D	+	2	0	SLCO1C1	20766188	1.000000	0.71417	0.760000	0.31359	0.859000	0.49053	3.844000	0.55873	0.866000	0.35629	0.460000	0.39030	GAT		0.358	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		G	20874921	A	G	20874921	3	3	47	1	0	0	0	0	1	0	0	0	14731	333	12	3	985	3	SLCO1C1	12	20874921	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	1	20874921	112976974	86	3483	41	2									
ESPL1	9700	broad.mit.edu	37	12	53683289	53683289	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:53683289G>A	ENST00000257934.4	+	22	5115	c.5024G>A	c.(5023-5025)cGc>cAc	p.R1675H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1675H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1675					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CGCATCCAGCGCCTCTTTTCC	0.597																																					Colon(53;1069 1201 2587 5382)											0													51	53	52					12																	53683289		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5024G>A	12.37:g.53683289G>A	ENSP00000257934:p.Arg1675His			Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	5.472	0.272180	0.10349	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11930	2.73;2.73	5.26	-6.05	0.02172	.	0.925791	0.09368	N	0.811800	T	0.05502	0.0145	N	0.04880	-0.145	0.23984	N	0.996265	B	0.02656	0.0	B	0.01281	0.0	T	0.47182	-0.9137	10	0.09338	T	0.73	.	14.468	0.67497	0.785:0.0:0.215:0.0	.	1675	Q14674	ESPL1_HUMAN	H	1675;1350;1675	ENSP00000257934:R1675H;ENSP00000449831:R1675H	ENSP00000257934:R1675H	R	+	2	0	ESPL1	51969556	0.013000	0.17824	0.786000	0.31890	0.980000	0.70556	-0.801000	0.04550	-1.157000	0.02815	-0.471000	0.05019	CGC		0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		A	53683289	G	A	53683289	3	1	47	1	0	0	0	0	1	0	0	0	5255	1087	38	1	5106	1	ESPL1	12	53683289	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	32808368	53683289	80168606	87	3484											
CD63	967	broad.mit.edu	37	12	56120509	56120509	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:56120509G>A	ENST00000549117.1	-	5	837	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CD63_ENST00000548160.1_Missense_Mutation_p.S41L|CD63_ENST00000552754.1_Missense_Mutation_p.S111L|CD63_ENST00000548898.1_Missense_Mutation_p.S41L|CD63_ENST00000550776.1_Missense_Mutation_p.S52L|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000420846.3_Missense_Mutation_p.S134L|CD63_ENST00000546939.1_Missense_Mutation_p.S52L|CD63_ENST00000552067.1_Missense_Mutation_p.S41L|CD63_ENST00000257857.4_Missense_Mutation_p.S134L|CD63_ENST00000552692.1_Missense_Mutation_p.S134L	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	134					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GTCCAGGATCGAAGCAGTGTG	0.522																																					Pancreas(123;1459 1747 6717 18841 37380)											0													125	113	117					12																	56120509		2203	4300	6503	SO:0001583	missense	967			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.401C>T	12.37:g.56120509G>A	ENSP00000447730:p.Ser134Leu		F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	CCDS8890.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560073	0.27827	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173	T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.08	-5.42	0.02640	Tetraspanin, EC2 domain (1);	2.354970	0.01563	N	0.020215	T	0.57330	0.2046	N	0.11154	0.105	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.47222	-0.9134	10	0.25751	T	0.34	.	8.1828	0.31322	0.5669:0.1124:0.3207:0.0	.	111;134;134	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	L	41;41;134;41;52;134;134;134;111;52;134;134	ENSP00000447938:S41L;ENSP00000449684:S41L;ENSP00000393502:S134L;ENSP00000449654:S41L;ENSP00000447356:S52L;ENSP00000449337:S134L;ENSP00000447730:S134L;ENSP00000257857:S134L;ENSP00000446807:S111L;ENSP00000448091:S52L;ENSP00000449281:S134L;ENSP00000446752:S134L	ENSP00000257857:S134L	S	-	2	0	CD63	54406776	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.618000	0.00880	-0.923000	0.03785	-0.469000	0.05056	TCG		0.522	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			A	56120509	G	A	56120509	3	1	47	1	0	0	0	0	1	0	0	0	3031	1059	37	1	331	1	CD63	12	56120509	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	2437220	56120509	77731386	88	3485											
MBD6	114785	broad.mit.edu	37	12	57918128	57918128	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:57918128G>T	ENST00000355673.3	+	3	398	c.42G>T	c.(40-42)ggG>ggT	p.G14G	MBD6_ENST00000431731.2_Silent_p.G14G|MBD6_ENST00000549231.1_3'UTR	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	14	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACAGAGCTGGGGGCCCTGTGG	0.582																																																0													67	59	62					12																	57918128		2203	4300	6503	SO:0001819	synonymous_variant	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.42G>T	12.37:g.57918128G>T			Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	CCDS8944.1																																																																																				0.582	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			T	57918128	G	T	57918128	2	4	47	1	0	0	0	0	0	0	0	1	9350	1219	43	4		4	MBD6	12	57918128	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08	1797619	57918128	75933767	89	3486											
GRIP1	23426	broad.mit.edu	37	12	66838418	66838418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:66838418G>A	ENST00000398016.3	-	12	1545	c.1477C>T	c.(1477-1479)Cga>Tga	p.R493*	GRIP1_ENST00000359742.4_Nonsense_Mutation_p.R545*|GRIP1_ENST00000286445.7_Nonsense_Mutation_p.R545*	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	244					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GAAGAGTCTCGGAGGAGCTGA	0.453																																																0													119	120	120					12																	66838418		1956	4140	6096	SO:0001587	stop_gained	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1477C>T	12.37:g.66838418G>A	ENSP00000381098:p.Arg493*		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Nonsense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	G	38	7.177335	0.98114	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.	.	.	5.61	3.73	0.42828	.	0.059599	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.4739	13.829	0.63368	0.0:0.0:0.4353:0.5647	.	.	.	.	X	493;545;545;493;437;385	.	.	R	-	1	2	GRIP1	65124685	0.979000	0.34478	1.000000	0.80357	0.989000	0.77384	1.045000	0.30341	0.674000	0.31244	0.544000	0.68410	CGA		0.453	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			A	66838418	G	A	66838418	4	1	47	1	0	0	0	0	0	1	0	0	6789	1124	39	1	1805	1	GRIP1	12	66838418	Nonsense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	8920290	66838418	67013477	90	3487											
SPIC	121599	broad.mit.edu	37	12	101876667	101876668	+	Frame_Shift_Ins	INS	-	-	G	rs140414335	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:101876667_101876668insG	ENST00000551346.1	+	5	467_468	c.308_309insG	c.(307-312)aaggggfs	p.KG103fs	SPIC_ENST00000299272.5_Frame_Shift_Ins_p.KG103fs			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	103					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CTCCAGCAAAAGGGGGGAAAAG	0.396																																																0																																										SO:0001589	frameshift_variant	121599			AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.314dupG	12.37:g.101876673_101876673dupG	ENSP00000448580:p.Lys103fs			Frame_Shift_Ins	INS	ENST00000551346.1	37	CCDS9082.1																																																																																				0.396	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		G	101876668	-	G	101876667	7	5	47	1	0	1	1	0	0	0	0	0	15056	72	3	0	316	0	SPIC	12	101876667	Frame_Shift_Ins	INS	-	TCGA-A3-3331-01A-01W-0886-08	35038249	101876667	31975228	91	3488											
CCDC63	160762	broad.mit.edu	37	12	111318996	111318996	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:111318996G>A	ENST00000308208.5	+	7	991	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Missense_Mutation_p.R210Q|CCDC63_ENST00000552694.1_Missense_Mutation_p.R171Q	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	250										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTGGAGATCCGAGAGCTGGAG	0.557																																																0													85	73	77					12																	111318996		2203	4300	6503	SO:0001583	missense	160762			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.749G>A	12.37:g.111318996G>A	ENSP00000312399:p.Arg250Gln		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882483	0.51908	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.22743	1.94;1.94;1.94	4.65	4.65	0.58169	.	0.692352	0.13636	N	0.373335	T	0.15089	0.0364	L	0.52126	1.63	0.32167	N	0.582115	P	0.38167	0.621	B	0.24974	0.057	T	0.07673	-1.0760	10	0.19590	T	0.45	.	9.2341	0.37455	0.1021:0.0:0.8979:0.0	.	250	Q8NA47	CCD63_HUMAN	Q	210;250;171	ENSP00000445881:R210Q;ENSP00000312399:R250Q;ENSP00000450217:R171Q	ENSP00000312399:R250Q	R	+	2	0	CCDC63	109803379	0.974000	0.33945	0.996000	0.52242	0.993000	0.82548	1.940000	0.40223	2.297000	0.77311	0.505000	0.49811	CGA		0.557	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		A	111318996	G	A	111318996	3	1	47	1	0	0	0	0	1	0	0	0	2836	1058	37	1	771	1	CCDC63	12	111318996	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	9442329	111318996	22532899	92	3489											
OGFOD2	79676	broad.mit.edu	37	12	123463114	123463114	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:123463114G>A	ENST00000228922.7	+	5	561	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	OGFOD2_ENST00000454694.2_Missense_Mutation_p.G13R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G13R|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.G117R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.G13R|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G13R|ARL6IP4_ENST00000426960.2_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.G13R|ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G13R|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000542117.1_3'UTR			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	177							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GAACAACTACGGGGTGGGTGA	0.637																																																0													37	43	41					12																	123463114		2110	4232	6342	SO:0001583	missense	79676			AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.529G>A	12.37:g.123463114G>A	ENSP00000228922:p.Gly177Arg		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37		.	.	.	.	.	.	.	.	.	.	G	33	5.277785	0.95459	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.91237	-2.81;0.89	5.06	5.06	0.68205	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.95859	0.8652	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96517	0.9383	10	0.87932	D	0	-52.1735	18.4497	0.90699	0.0:0.0:1.0:0.0	.	177;117	Q6N063;Q6N063-2	OGFD2_HUMAN;.	R	117;13;13;13;13;13;13;13;177;13	ENSP00000380544:G117R;ENSP00000228922:G177R	ENSP00000228922:G177R	G	+	1	0	OGFOD2	122029067	1.000000	0.71417	0.959000	0.39883	0.909000	0.53808	9.837000	0.99465	2.342000	0.79632	0.561000	0.74099	GGG		0.637	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		A	123463114	G	A	123463114	3	1	47	1	0	0	0	0	1	0	0	0	10844	1116	39	1	363	1	OGFOD2	12	123463114	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	12144118	123463114	10388781	93	3490											
ALG11	440138	broad.mit.edu	37	13	52598423	52598423	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr13:52598423A>T	ENST00000521508.1	+	3	562	c.557A>T	c.(556-558)aAg>aTg	p.K186M	ALG11_ENST00000523764.1_Intron|UTP14C_ENST00000521776.2_5'Flank|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	186					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		CCTCTGTTTAAGTATATAGGG	0.388																																																0													136	130	132					13																	52598423		2203	4300	6503	SO:0001583	missense	440138			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.557A>T	13.37:g.52598423A>T	ENSP00000430236:p.Lys186Met		A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	ENST00000521508.1	37	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.997683	0.54147	.	.	ENSG00000253710	ENST00000521508	T	0.80566	-1.39	6.16	4.98	0.66077	.	0.063959	0.64402	U	0.000015	D	0.90659	0.7070	M	0.89840	3.065	0.51233	D	0.999913	D	0.89917	1.0	D	0.72075	0.976	D	0.91789	0.5442	10	0.87932	D	0	.	12.5328	0.56126	0.9353:0.0:0.0647:0.0	.	186	Q2TAA5	ALG11_HUMAN	M	186	ENSP00000430236:K186M	ENSP00000430236:K186M	K	+	2	0	ALG11	51496424	1.000000	0.71417	0.995000	0.50966	0.502000	0.33828	5.739000	0.68622	1.143000	0.42306	0.528000	0.53228	AAG		0.388	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		T	52598423	A	T	52598423	3	4	47	1	0	0	0	0	1	0	0	0	513	72	3	5	567	5	ALG11	13	52598423	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08		52598423	62571455	94	3491											
IPO5	3843	broad.mit.edu	37	13	98671935	98671935	+	Silent	SNP	C	C	A	rs145166442		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr13:98671935C>A	ENST00000490680.1	+	24	3002	c.2937C>A	c.(2935-2937)atC>atA	p.I979I	IPO5_ENST00000539640.1_Silent_p.I854I|IPO5_ENST00000261574.5_Silent_p.I997I			O00410	IPO5_HUMAN	importin 5	979					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.I997I(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TAGGGAAAATCATGAAGTTCA	0.433																																																1	Substitution - coding silent(1)	skin(1)											127	118	121					13																	98671935		2203	4300	6503	SO:0001819	synonymous_variant	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2937C>A	13.37:g.98671935C>A			B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37		.	.	.	.	.	.	.	.	.	.	C	9.555	1.116908	0.20795	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.95	-11.6	0.00059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.5349	0.811	0.01093	0.2845:0.2226:0.2945:0.1984	.	.	.	.	X	981	.	.	S	+	2	0	IPO5	97469936	0.188000	0.23250	0.100000	0.21137	0.991000	0.79684	-0.408000	0.07169	-2.368000	0.00604	-0.133000	0.14855	TCA		0.433	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		A	98671935	C	A	98671935	2	1	47	1	0	0	0	0	0	0	0	1	7798	816	29	4		4	IPO5	13	98671935	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08	46073512	98671935	16497943	95	3492											
TMCO3	55002	broad.mit.edu	37	13	114150116	114150116	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr13:114150116G>A	ENST00000434316.2	+	2	579	c.220G>A	c.(220-222)Gca>Aca	p.A74T	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.A74T	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	74						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ACTGAAAACTGCAATTGGAGC	0.517																																																0													53	52	53					13																	114150116		2203	4300	6503	SO:0001583	missense	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.220G>A	13.37:g.114150116G>A	ENSP00000389399:p.Ala74Thr		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490517	0.64074	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.32272	1.46	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.71656	0.882;0.974	T	0.53858	-0.8379	10	0.44086	T	0.13	-16.5107	19.3579	0.94422	0.0:0.0:1.0:0.0	.	74;74	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	T	74	ENSP00000389399:A74T	ENSP00000364540:A74T	A	+	1	0	TMCO3	113198117	1.000000	0.71417	0.113000	0.21522	0.027000	0.11550	9.267000	0.95665	2.590000	0.87494	0.555000	0.69702	GCA		0.517	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		A	114150116	G	A	114150116	3	1	47	1	0	0	0	0	1	0	0	0	16002	1319	46	2	222	2	TMCO3	13	114150116	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	15478181	114150116	1019762	96	3493											
SPTB	6710	broad.mit.edu	37	14	65240106	65240106	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:65240106C>T	ENST00000389721.5	-	24	5042	c.5010G>A	c.(5008-5010)aaG>aaA	p.K1670K	SPTB_ENST00000542895.1_Silent_p.K1670K|SPTB_ENST00000389720.3_Silent_p.K1670K|SPTB_ENST00000389722.3_Silent_p.K1670K|SPTB_ENST00000556626.1_Silent_p.K1670K	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1670					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGCGTAGTGCTTGTCCACTT	0.587																																																0													123	110	115					14																	65240106		2203	4300	6503	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5010G>A	14.37:g.65240106C>T			Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																				0.587	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65240106	C	T	65240106	2	4	47	1	0	0	0	0	0	0	0	1	15123	796	28	2		2	SPTB	14	65240106	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08		65240106	42109434	97	3494											
ZFYVE26	23503	broad.mit.edu	37	14	68274334	68274334	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:68274334G>T	ENST00000347230.4	-	5	805	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	ZFYVE26_ENST00000555452.1_Silent_p.R223R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	223					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CGCAGAGTCCGCAGGGCTCCA	0.612																																																0													50	50	50					14																	68274334		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.667C>A	14.37:g.68274334G>T			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1																																																																																				0.612	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		T	68274334	G	T	68274334	2	4	47	1	0	0	0	0	0	0	0	1	17673	1086	38	4		4	ZFYVE26	14	68274334	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08	3034228	68274334	39075206	98	3495											
SIPA1L1	26037	broad.mit.edu	37	14	72054754	72054755	+	Frame_Shift_Ins	INS	-	-	C	rs12884638	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:72054754_72054755insC	ENST00000555818.1	+	2	513_514	c.165_166insC	c.(166-168)cccfs	p.P56fs	SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.P56fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.P56fs	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	56			P -> T (in dbSNP:rs12884638).		actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCTGTAGGACCCCCCCGAAG	0.535																																																0																																										SO:0001589	frameshift_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.172dupC	14.37:g.72054761_72054761dupC	ENSP00000450832:p.Pro56fs		J3KP19|O95321|Q9UDU4|Q9UNU4	Frame_Shift_Ins	INS	ENST00000555818.1	37	CCDS9807.1																																																																																				0.535	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		C	72054755	-	C	72054754	7	5	47	1	0	1	1	0	0	0	0	0	14335	262	10	0	167	0	SIPA1L1	14	72054754	Frame_Shift_Ins	INS	-	TCGA-A3-3331-01A-01W-0886-08	3780420	72054754	35294786	99	3496											
DYNC1H1	1778	broad.mit.edu	37	14	102510938	102510938	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:102510938delG	ENST00000360184.4	+	72	13073	c.12909delG	c.(12907-12909)gagfs	p.E4304fs	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4304					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTAGGCGAGAGGAGTTTGTGC	0.577																																																0													117	109	112					14																	102510938		2203	4300	6503	SO:0001589	frameshift_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12909delG	14.37:g.102510938delG	ENSP00000348965:p.Glu4304fs		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Frame_Shift_Del	DEL	ENST00000360184.4	37	CCDS9966.1																																																																																				0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		-	102510938	G	-	102510938	7	5	47	1	0	1	0	1	0	0	0	0	4843	991	35	0	13195	0	DYNC1H1	14	102510938	Frame_Shift_Del	DEL	G	TCGA-A3-3331-01A-01W-0886-08	30456184	102510938	4838602	100	3497											
EIF3J	80208	broad.mit.edu	37	15	44853257	44853257	+	IGR	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:44853257A>T	ENST00000261866.7	-	0	7774				EIF3J_ENST00000424492.3_Silent_p.G180G|EIF3J_ENST00000261868.5_Silent_p.G229G|EIF3J_ENST00000535391.1_Silent_p.G175G|RP11-151N17.1_ENST00000558006.1_RNA	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)						cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGGTTCCTGGAGGGGGATTAA	0.393																																																0													195	172	180					15																	44853257		2198	4298	6496	SO:0001628	intergenic_variant	8669				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199		15.37:g.44853257A>T			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.393	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			T	44853257	A	T	44853257	1	4	47	0	1	0	0	0	0	0	0	0	5022	291	11	5		5	EIF3J	15	44853257	IGR	SNP	A	TCGA-A3-3331-01A-01W-0886-08		44853257	57678135	101	3498											
DUOX2	50506	broad.mit.edu	37	15	45389452	45389452	+	Silent	SNP	C	C	T	rs574030530		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:45389452C>T	ENST00000603300.1	-	29	4033	c.3831G>A	c.(3829-3831)gcG>gcA	p.A1277A	DUOX2_ENST00000389039.6_Silent_p.A1277A	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1277	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCAGCAGCTCCGCCTTCACCA	0.587													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19405	0.0		0.0	False		,,,				2504	0.0															0													98	90	92					15																	45389452		2198	4298	6496	SO:0001819	synonymous_variant	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3831G>A	15.37:g.45389452C>T			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	CCDS10117.1																																																																																				0.587	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		T	45389452	C	T	45389452	2	4	47	1	0	0	0	0	0	0	0	1	4803	639	23	1		1	DUOX2	15	45389452	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08	536195	45389452	57141940	102	3499											
CCNB2	9133	broad.mit.edu	37	15	59409486	59409486	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:59409486T>C	ENST00000288207.2	+	7	1085	c.894T>C	c.(892-894)taT>taC	p.Y298Y	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	298					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TCATCGACTATGATATGGTGC	0.423																																																0													133	119	124					15																	59409486		2191	4291	6482	SO:0001819	synonymous_variant	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.894T>C	15.37:g.59409486T>C			B3KM93|Q6FI99	Silent	SNP	ENST00000288207.2	37	CCDS10170.1																																																																																				0.423	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		C	59409486	T	C	59409486	2	2	47	1	0	0	0	0	0	0	0	1	2915	1471	51	3		3	CCNB2	15	59409486	Silent	SNP	T	TCGA-A3-3331-01A-01W-0886-08	14020034	59409486	43121906	103	3500											
NR2F2	7026	broad.mit.edu	37	15	96877541	96877541	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:96877541G>A	ENST00000394166.3	+	2	2068	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Missense_Mutation_p.A94T|NR2F2_ENST00000394171.2_Missense_Mutation_p.A74T|NR2F2_ENST00000453270.2_Missense_Mutation_p.A74T	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	227	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CGTCGAGTGGGCCCGGAACAT	0.612																																																0													143	133	137					15																	96877541		2197	4298	6495	SO:0001583	missense	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.679G>A	15.37:g.96877541G>A	ENSP00000377721:p.Ala227Thr		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	36	5.892527	0.97074	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.97279	-0.15;-0.15;-4.32;-4.32	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.059534	0.64402	D	0.000004	D	0.98254	0.9422	M	0.83953	2.67	0.80722	D	1	P;P	0.50369	0.526;0.934	P;P	0.59643	0.61;0.861	D	0.99494	1.0951	10	0.87932	D	0	.	18.1811	0.89779	0.0:0.0:1.0:0.0	.	227;94	P24468;Q3KQR7	COT2_HUMAN;.	T	94;227;74;74	ENSP00000401674:A94T;ENSP00000377721:A227T;ENSP00000377726:A74T;ENSP00000389853:A74T	ENSP00000377721:A227T	A	+	1	0	NR2F2	94678545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.306000	0.77630	0.561000	0.74099	GCC		0.612	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			A	96877541	G	A	96877541	3	1	47	1	0	0	0	0	1	0	0	0	10630	1203	42	2	732	2	NR2F2	15	96877541	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	37468055	96877541	5653851	104	3501											
IL32	9235	broad.mit.edu	37	16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:3119294C>A	ENST00000534507.1	+	6	854	c.643C>A	c.(643-645)Cca>Aca	p.P215T	IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000525643.2_Missense_Mutation_p.P169T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)		p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582																																																1	Substitution - Missense(1)	lung(1)											95	124	114					16																	3119294		2197	4300	6497	SO:0001583	missense	9235			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.643C>A	16.37:g.3119294C>A	ENSP00000431775:p.Pro215Thr		A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	37		.	.	.	.	.	.	.	.	.	.	C	4.454	0.084032	0.08583	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000548652;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.42;0.44;0.42;0.4;0.42;0.42;0.42;0.42;0.4;0.42;0.44;0.42;0.43;0.42;0.42;0.43;0.44;0.42;0.42;0.4;0.44;0.44;0.42;0.43;0.44;0.42;0.42	1.71	-0.364	0.12553	.	.	.	.	.	T	0.40694	0.1127	N	0.08118	0	0.09310	N	1	P;P;P;P;P;P;P	0.51449	0.833;0.938;0.938;0.833;0.833;0.938;0.945	B;B;B;B;B;B;P	0.56648	0.151;0.192;0.192;0.197;0.151;0.192;0.803	T	0.26710	-1.0095	9	0.87932	D	0	.	4.0362	0.09730	0.0:0.5866:0.0:0.4134	.	129;149;160;149;215;169;112	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;.;.;IL32_HUMAN;.;.	T	169;215;159;112;149;169;169;169;112;169;215;169;149;169;169;149;215;160;169;112;193;215;169;149;206;160;129	ENSP00000324742:P169T;ENSP00000431775:P215T;ENSP00000433177:P159T;ENSP00000380096:P112T;ENSP00000436937:P149T;ENSP00000450364:P169T;ENSP00000405063:P169T;ENSP00000437020:P169T;ENSP00000447496:P112T;ENSP00000432218:P169T;ENSP00000448354:P215T;ENSP00000432850:P169T;ENSP00000433747:P149T;ENSP00000411958:P169T;ENSP00000432917:P169T;ENSP00000008180:P149T;ENSP00000380099:P215T;ENSP00000446624:P160T;ENSP00000436929:P169T;ENSP00000447812:P112T;ENSP00000447033:P193T;ENSP00000449483:P215T;ENSP00000448683:P169T;ENSP00000446978:P149T;ENSP00000449147:P206T;ENSP00000371648:P160T;ENSP00000447979:P129T	ENSP00000008180:P149T	P	+	1	0	IL32	3059295	0.142000	0.22610	0.000000	0.03702	0.001000	0.01503	0.729000	0.26028	-0.050000	0.13356	0.543000	0.68304	CCA		0.582	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		A	3119294	C	A	3119294	3	1	47	1	0	0	0	0	1	0	0	0	7694	623	22	4	527	4	IL32	16	3119294	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08		3119294	87235459	105	3502											
TEKT5	146279	broad.mit.edu	37	16	10721462	10721462	+	Frame_Shift_Del	DEL	G	G	-	rs201676909		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:10721462delG	ENST00000283025.2	-	7	1507	c.1436delC	c.(1435-1437)ccgfs	p.P479fs	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	479						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.P479L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CACCAGGCGCGGGGTGCAGGG	0.572																																																1	Substitution - Missense(1)	ovary(1)											62	61	61					16																	10721462		2197	4300	6497	SO:0001589	frameshift_variant	146279				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1436delC	16.37:g.10721462delG	ENSP00000283025:p.Pro479fs		A1L3Z3	Frame_Shift_Del	DEL	ENST00000283025.2	37	CCDS10542.1																																																																																				0.572	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		-	10721462	G	-	10721462	7	5	47	1	0	1	0	1	0	0	0	0	15761	1116	39	0	25	0	TEKT5	16	10721462	Frame_Shift_Del	DEL	G	TCGA-A3-3331-01A-01W-0886-08	7602168	10721462	79633291	106	3503											
TXNDC11	51061	broad.mit.edu	37	16	11785336	11785336	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:11785336T>C	ENST00000356957.3	-	9	1898	c.1791A>G	c.(1789-1791)acA>acG	p.T597T	TXNDC11_ENST00000570917.1_5'Flank|TXNDC11_ENST00000283033.5_Silent_p.T570T			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	597					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGCTCAGGCCTGTGAAGTTTG	0.463																																																0													147	141	143					16																	11785336		2197	4300	6497	SO:0001819	synonymous_variant	51061			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1791A>G	16.37:g.11785336T>C			O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37																																																																																					0.463	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		C	11785336	T	C	11785336	2	2	47	1	0	0	0	0	0	0	0	1	16797	1567	55	3		3	TXNDC11	16	11785336	Silent	SNP	T	TCGA-A3-3331-01A-01W-0886-08	1063874	11785336	78569417	107	3504											
CPPED1	55313	broad.mit.edu	37	16	12798724	12798725	+	Frame_Shift_Ins	INS	-	-	G	rs145004672	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:12798724_12798725insG	ENST00000381774.4	-	3	711_712	c.471_472insC	c.(469-474)ggcgtcfs	p.V158fs	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	158	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.V158I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						AGGAACAGGACGCCCCCGACCC	0.609																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	55313			AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.472dupC	16.37:g.12798725_12798725dupG	ENSP00000371193:p.Val158fs		B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Frame_Shift_Ins	INS	ENST00000381774.4	37	CCDS42120.1																																																																																				0.609	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		G	12798725	-	G	12798724	7	5	47	1	0	1	1	0	0	0	0	0	3824	536	19	0	480	0	CPPED1	16	12798724	Frame_Shift_Ins	INS	-	TCGA-A3-3331-01A-01W-0886-08	1013388	12798724	77556029	108	3505											
NFATC3	4775	broad.mit.edu	37	16	68160421	68160421	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:68160421G>A	ENST00000346183.3	+	3	1333	c.1309G>A	c.(1309-1311)Gtg>Atg	p.V437M	NFATC3_ENST00000329524.4_Missense_Mutation_p.V437M|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.V437M|NFATC3_ENST00000349223.5_Missense_Mutation_p.V437M	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	437	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GAAAATAGAAGTGCAACCTAA	0.433																																																0													148	119	129					16																	68160421		2198	4300	6498	SO:0001583	missense	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1309G>A	16.37:g.68160421G>A	ENSP00000300659:p.Val437Met		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016887	0.75161	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.44083	0.93;0.93;0.93	5.34	4.38	0.52667	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.058072	0.64402	D	0.000002	T	0.51991	0.1707	L	0.34521	1.04	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.989;0.998;0.998	T	0.52139	-0.8615	10	0.54805	T	0.06	-4.3895	13.4044	0.60903	0.0757:0.0:0.9243:0.0	.	437;437;437;437	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	M	437	ENSP00000264008:V437M;ENSP00000300659:V437M;ENSP00000331324:V437M	ENSP00000331324:V437M	V	+	1	0	NFATC3	66717922	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.576000	0.74023	2.500000	0.84329	0.555000	0.69702	GTG		0.433	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		A	68160421	G	A	68160421	3	1	47	1	0	0	0	0	1	0	0	0	10366	1029	36	2	1319	2	NFATC3	16	68160421	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	55361697	68160421	22194332	109	3506											
MLYCD	23417	broad.mit.edu	37	16	83948731	83948731	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:83948731G>C	ENST00000262430.4	+	5	1138	c.1119G>C	c.(1117-1119)gaG>gaC	p.E373D	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	373	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCATTAACGAGACCCTCAAGC	0.567																																																0													115	122	120					16																	83948731		2042	4205	6247	SO:0001583	missense	23417			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1119G>C	16.37:g.83948731G>C	ENSP00000262430:p.Glu373Asp		Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004777	0.35320	.	.	ENSG00000103150	ENST00000262430	D	0.90133	-2.62	4.79	1.7	0.24286	.	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.66939	2.045	0.54753	D	0.999984	B	0.15930	0.015	B	0.16289	0.015	T	0.75622	-0.3254	10	0.25751	T	0.34	-40.6302	4.945	0.13985	0.3909:0.1512:0.4579:0.0	.	373	O95822	DCMC_HUMAN	D	373	ENSP00000262430:E373D	ENSP00000262430:E373D	E	+	3	2	MLYCD	82506232	1.000000	0.71417	0.905000	0.35620	0.012000	0.07955	0.630000	0.24553	0.569000	0.29329	0.511000	0.50034	GAG		0.567	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		C	83948731	G	C	83948731	3	2	47	1	0	0	0	0	1	0	0	0	9640	933	33	4	1137	4	MLYCD	16	83948731	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	15788310	83948731	6406022	110	3507											
ALOXE3	59344	broad.mit.edu	37	17	8000098	8000098	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:8000098C>T	ENST00000448843.2	-	16	2323	c.1983G>A	c.(1981-1983)gaG>gaA	p.E661E	ALOXE3_ENST00000380149.1_Silent_p.E817E|ALOXE3_ENST00000318227.3_Silent_p.E793E	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	661	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTGTGAAGTGCTCATCTGGGT	0.607																																																0													53	54	53					17																	8000098		2203	4300	6503	SO:0001819	synonymous_variant	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1983G>A	17.37:g.8000098C>T			B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Silent	SNP	ENST00000448843.2	37	CCDS11130.1																																																																																				0.607	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			T	8000098	C	T	8000098	2	4	47	1	0	0	0	0	0	0	0	1	542	796	28	2		2	ALOXE3	17	8000098	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08		8000098	73195112	111	3508											
SLC13A2	9058	broad.mit.edu	37	17	26818764	26818764	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:26818764G>A	ENST00000314669.5	+	6	1192	c.772G>A	c.(772-774)Ggc>Agc	p.G258S	SLC13A2_ENST00000537681.1_Missense_Mutation_p.G187S|SLC13A2_ENST00000444914.3_Missense_Mutation_p.G307S|SLC13A2_ENST00000545060.1_Missense_Mutation_p.G215S	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	258					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)	p.G258S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCCCCAAAACGGCAACGTGGT	0.597																																																1	Substitution - Missense(1)	large_intestine(1)											161	138	146					17																	26818764		2203	4300	6503	SO:0001583	missense	9058			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.772G>A	17.37:g.26818764G>A	ENSP00000316202:p.Gly258Ser		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	8.108	0.778259	0.16120	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	5.52	-3.14	0.05250	.	1.067880	0.07043	N	0.830449	T	0.03434	0.0099	L	0.45285	1.41	0.09310	N	1	P;B;B;P;B	0.34892	0.468;0.094;0.053;0.474;0.053	B;B;B;B;B	0.25405	0.04;0.053;0.06;0.036;0.037	T	0.46303	-0.9201	10	0.12103	T	0.63	-26.0201	6.92	0.24383	0.1311:0.4086:0.3797:0.0806	.	215;307;214;187;258	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	S	258;307;215;214;187	ENSP00000316202:G258S;ENSP00000392411:G307S;ENSP00000441935:G215S;ENSP00000440802:G187S	ENSP00000316202:G258S	G	+	1	0	SLC13A2	23842891	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	0.235000	0.17948	-0.293000	0.08986	0.557000	0.71058	GGC		0.597	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		A	26818764	G	A	26818764	3	1	47	1	0	0	0	0	1	0	0	0	14398	1116	39	1	941	1	SLC13A2	17	26818764	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	18818666	26818764	54376446	112	3509											
TIAF1	9220	broad.mit.edu	37	17	27400913	27400913	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:27400913C>T	ENST00000359450.6	-	1	4962	c.305G>A	c.(304-306)gGt>gAt	p.G102D	MYO18A_ENST00000354329.4_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.G102D|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	102					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ATGGTCCAGACCACCTGGACA	0.488																																																0													161	145	150					17																	27400913		2203	4300	6503	SO:0001583	missense	9220			AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.305G>A	17.37:g.27400913C>T	ENSP00000352424:p.Gly102Asp		A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	37	CCDS32599.1	.	.	.	.	.	.	.	.	.	.	C	2.964	-0.213994	0.06101	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	5.37	2.24	0.28232	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	0.999999	B	0.30973	0.302	B	0.24541	0.054	T	0.14839	-1.0458	8	0.87932	D	0	.	9.1754	0.37109	0.2973:0.5595:0.1432:0.0	.	102	O95411	TIAF1_HUMAN	D	102	.	ENSP00000386130:G102D	G	-	2	0	TIAF1	24425039	0.004000	0.15560	0.090000	0.20809	0.017000	0.09413	-0.169000	0.09911	0.372000	0.24591	0.655000	0.94253	GGT		0.488	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		T	27400913	C	T	27400913	3	4	47	1	0	0	0	0	1	0	0	0	15893	507	18	2	46	2	TIAF1	17	27400913	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	582149	27400913	53794297	113	3510											
TMIGD1	388364	broad.mit.edu	37	17	28651878	28651878	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:28651878G>C	ENST00000328886.4	-	4	668	c.596C>G	c.(595-597)tCa>tGa	p.S199*	TMIGD1_ENST00000538566.2_Nonsense_Mutation_p.S199*	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	199	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TTTCAGAGATGACTTTGCAAT	0.428																																																0													132	128	129					17																	28651878		2203	4300	6503	SO:0001587	stop_gained	388364			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.596C>G	17.37:g.28651878G>C	ENSP00000332404:p.Ser199*		A8K2K1|Q6ZMC6	Nonsense_Mutation	SNP	ENST00000328886.4	37	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188464	0.38609	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	.	.	.	5.69	3.69	0.42338	.	0.402073	0.27586	N	0.018712	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-1.2829	9.3069	0.37881	0.2209:0.0:0.7791:0.0	.	.	.	.	X	199	.	ENSP00000332404:S199X	S	-	2	0	TMIGD1	25676004	0.498000	0.26075	0.111000	0.21465	0.200000	0.23975	1.674000	0.37544	1.410000	0.46936	0.655000	0.94253	TCA		0.428	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		C	28651878	G	C	28651878	4	2	47	1	0	0	0	0	0	1	0	0	16235	1294	45	4	208	4	TMIGD1	17	28651878	Nonsense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	1250965	28651878	52543332	114	3511											
SLFN5	162394	broad.mit.edu	37	17	33591512	33591512	+	Silent	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:33591512C>A	ENST00000299977.4	+	4	1597	c.1449C>A	c.(1447-1449)ggC>ggA	p.G483G	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	483					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAAAGGCGGCTACACTGGGA	0.453																																																0													120	111	114					17																	33591512		2203	4300	6503	SO:0001819	synonymous_variant	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1449C>A	17.37:g.33591512C>A			Q08AF2|Q8WU54|Q96A82	Silent	SNP	ENST00000299977.4	37	CCDS32619.1																																																																																				0.453	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		A	33591512	C	A	33591512	2	1	47	1	0	0	0	0	0	0	0	1	14743	784	28	4		4	SLFN5	17	33591512	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08	4939634	33591512	47603698	115	3512											
NT5C3L	115024	broad.mit.edu	37	17	39981887	39981887	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:39981887T>A	ENST00000435506.2	-	9	860	c.791A>T	c.(790-792)tAc>tTc	p.Y264F	NT5C3B_ENST00000521789.1_Missense_Mutation_p.Y164F|NT5C3B_ENST00000269534.8_Missense_Mutation_p.Y256F			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	264					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										GGAGTCCATGTAGCGCTCCCG	0.622																																																0													95	94	94					17																	39981887		2203	4300	6503	SO:0001583	missense	115024				CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"5'-nucleotidase, cytosolic III-like"	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.791A>T	17.37:g.39981887T>A	ENSP00000389948:p.Tyr264Phe		A8MWB9|C9JKC4|Q7L3B7	Missense_Mutation	SNP	ENST00000435506.2	37	CCDS11410.2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002887	0.74932	.	.	ENSG00000141698	ENST00000269534;ENST00000521789;ENST00000393911;ENST00000435506	D;D;D	0.86097	-2.07;-1.94;-2.07	5.91	5.91	0.95273	HAD-like domain (1);	0.063186	0.64402	D	0.000003	D	0.84871	0.5568	L	0.49640	1.575	0.58432	D	0.999999	P;P	0.41313	0.745;0.591	P;B	0.48166	0.569;0.29	T	0.83265	-0.0046	10	0.33940	T	0.23	-0.0473	11.1334	0.48360	0.1377:0.0:0.0:0.8623	.	264;256	C9JKC4;Q969T7	.;5NT3L_HUMAN	F	256;164;298;264	ENSP00000269534:Y256F;ENSP00000429878:Y164F;ENSP00000389948:Y264F	ENSP00000269534:Y256F	Y	-	2	0	NT5C3L	37235413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.948000	0.70249	2.262000	0.75019	0.528000	0.53228	TAC		0.622	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935		A	39981887	T	A	39981887	3	1	47	1	0	0	0	0	1	0	0	0	10691	1638	57	5	115	5	NT5C3L	17	39981887	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	6390375	39981887	41213323	116	3513											
FZD2	2535	broad.mit.edu	37	17	42636477	42636477	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:42636477C>A	ENST00000315323.3	+	1	1553	c.1421C>A	c.(1420-1422)aCc>aAc	p.T474N		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	474					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTGCCCGCCACCATCGTCATC	0.632																																																0													73	59	64					17																	42636477		2203	4300	6503	SO:0001583	missense	2535			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1421C>A	17.37:g.42636477C>A	ENSP00000323901:p.Thr474Asn		Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.290893	0.80914	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.82711	-1.64	5.2	5.2	0.72013	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	M	0.91090	3.175	0.80722	D	1	D	0.64830	0.994	D	0.63597	0.916	D	0.94082	0.7345	10	0.72032	D	0.01	.	18.4133	0.90559	0.0:1.0:0.0:0.0	.	474	Q14332	FZD2_HUMAN	N	550;474	ENSP00000323901:T474N	ENSP00000323901:T474N	T	+	2	0	FZD2	39992003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.432000	0.82394	0.555000	0.69702	ACC		0.632	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		A	42636477	C	A	42636477	3	1	47	1	0	0	0	0	1	0	0	0	6132	507	18	4	1423	4	FZD2	17	42636477	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	2654590	42636477	38558733	117	3514											
SPOP	8405	broad.mit.edu	37	17	47688691	47688691	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:47688691G>C	ENST00000393328.2	-	7	974	c.609C>G	c.(607-609)tgC>tgG	p.C203W	SPOP_ENST00000347630.2_Missense_Mutation_p.C203W|SPOP_ENST00000503676.1_Missense_Mutation_p.C203W|SPOP_ENST00000393331.3_Missense_Mutation_p.C203W|SPOP_ENST00000504102.1_Missense_Mutation_p.C203W	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	203	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Important for homodimerization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAACACACAAGCAGCAGTCTG	0.458										Prostate(2;0.17)																																						0													120	125	123					17																	47688691		2203	4300	6503	SO:0001583	missense	8405			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.609C>G	17.37:g.47688691G>C	ENSP00000377001:p.Cys203Trp		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398736	0.62177	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581	T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.46	3.29	0.37713	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.052151	0.85682	D	0.000000	T	0.67571	0.2907	L	0.47016	1.485	0.80722	D	1	D	0.64830	0.994	P	0.57502	0.822	T	0.68667	-0.5348	10	0.87932	D	0	-12.3651	5.9729	0.19363	0.3763:0.0:0.6237:0.0	.	203	O43791	SPOP_HUMAN	W	203;203;203;203;87;203;156;203;203	ENSP00000377001:C203W;ENSP00000377004:C203W;ENSP00000240327:C203W;ENSP00000425905:C203W;ENSP00000420908:C203W;ENSP00000426986:C203W;ENSP00000420960:C203W	ENSP00000240327:C203W	C	-	3	2	SPOP	45043690	0.988000	0.35896	1.000000	0.80357	0.996000	0.88848	0.239000	0.18023	1.311000	0.45024	0.591000	0.81541	TGC		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		C	47688691	G	C	47688691	3	2	47	1	0	0	0	0	1	0	0	0	15089	963	34	4	535	4	SPOP	17	47688691	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	5052214	47688691	33506519	118	3515											
AKAP1	8165	broad.mit.edu	37	17	55183914	55183914	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:55183914G>T	ENST00000337714.3	+	2	1322	c.1089G>T	c.(1087-1089)gtG>gtT	p.V363V	AKAP1_ENST00000571629.1_Silent_p.V363V|AKAP1_ENST00000539273.1_Silent_p.V363V|AKAP1_ENST00000314126.3_Silent_p.V363V|AKAP1_ENST00000572557.1_Silent_p.V363V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	363					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCGAACAGGTGCTGGCCACCA	0.532																																																0													81	88	86					17																	55183914		2203	4300	6503	SO:0001819	synonymous_variant	8165			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1089G>T	17.37:g.55183914G>T			A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	CCDS11594.1																																																																																				0.532	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			T	55183914	G	T	55183914	2	4	47	1	0	0	0	0	0	0	0	1	445	1306	46	4		4	AKAP1	17	55183914	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08	7495223	55183914	26011296	119	3516											
DNAH17	8632	broad.mit.edu	37	17	76475152	76475152	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:76475152C>G	ENST00000585328.1	-	51	8056	c.7932G>C	c.(7930-7932)aaG>aaC	p.K2644N	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.K2635N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2635	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATAATGAAACTTAATGGCCG	0.458																																																0													133	129	130					17																	76475152		1879	4122	6001	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7932G>C	17.37:g.76475152C>G	ENSP00000465516:p.Lys2644Asn		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	12.09	1.832881	0.32421	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.49139	0.79	4.82	2.76	0.32466	.	.	.	.	.	T	0.65281	0.2676	M	0.89095	3.005	0.35296	D	0.782615	.	.	.	.	.	.	T	0.73886	-0.3841	7	0.87932	D	0	.	8.9281	0.35652	0.0:0.7461:0.0:0.2539	.	.	.	.	N	2644;2635	ENSP00000374490:K2635N	ENSP00000300671:K2644N	K	-	3	2	DNAH17	73986747	0.966000	0.33281	0.998000	0.56505	0.005000	0.04900	0.165000	0.16564	0.415000	0.25817	-0.358000	0.07595	AAG		0.458	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		G	76475152	C	G	76475152	3	3	47	1	0	0	0	0	1	0	0	0	4603	564	20	4	5565	4	DNAH17	17	76475152	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	21291238	76475152	4720058	120	3517											
KIAA1012	22878	broad.mit.edu	37	18	29487429	29487429	+	Silent	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr18:29487429A>T	ENST00000283351.4	-	9	1718	c.1383T>A	c.(1381-1383)ggT>ggA	p.G461G	TRAPPC8_ENST00000582539.1_Silent_p.G407G|TRAPPC8_ENST00000582513.1_Silent_p.G461G	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	461					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAACCAAGGCACCAGCTGCAT	0.338																																																0													71	72	72					18																	29487429		2203	4300	6503	SO:0001819	synonymous_variant	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1383T>A	18.37:g.29487429A>T			A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	CCDS11901.1																																																																																				0.338	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		T	29487429	A	T	29487429	2	4	47	1	0	0	0	0	0	0	0	1	8206	146	6	5		5	KIAA1012	18	29487429	Silent	SNP	A	TCGA-A3-3331-01A-01W-0886-08		29487429	48589819	121	3518											
CCBE1	147372	broad.mit.edu	37	18	57106799	57106799	+	Silent	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr18:57106799C>G	ENST00000439986.4	-	9	964	c.927G>C	c.(925-927)ggG>ggC	p.G309G	CCBE1_ENST00000398179.2_Silent_p.G38G	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	309	Collagen-like 2.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TTCCTGGTGCCCCTGGTGGAC	0.408																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)											0													173	178	176					18																	57106799		2203	4300	6503	SO:0001819	synonymous_variant	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.927G>C	18.37:g.57106799C>G			Q6MZX5|Q86SS2|Q8TF19	Silent	SNP	ENST00000439986.4	37	CCDS32838.1																																																																																				0.408	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		G	57106799	C	G	57106799	2	3	47	1	0	0	0	0	0	0	0	1	2733	610	22	4		4	CCBE1	18	57106799	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08	27619370	57106799	20970449	122	3519											
MAST1	22983	broad.mit.edu	37	19	12962788	12962788	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:12962788C>G	ENST00000251472.4	+	8	854	c.815C>G	c.(814-816)aCt>aGt	p.T272S	MAST1_ENST00000591495.1_Missense_Mutation_p.T268S	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCTTCGTTACTCAGCTGGTG	0.612																																																0													114	95	102					19																	12962788		2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.815C>G	19.37:g.12962788C>G	ENSP00000251472:p.Thr272Ser			Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.916109	0.33815	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.29142	1.58	5.23	5.23	0.72850	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.128103	0.51477	D	0.000098	T	0.31358	0.0794	L	0.45285	1.41	0.35085	D	0.76377	B;B	0.23540	0.087;0.003	B;B	0.32928	0.155;0.015	T	0.30822	-0.9965	10	0.22109	T	0.4	-9.2981	16.6562	0.85229	0.0:1.0:0.0:0.0	.	272;272	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	S	272	ENSP00000251472:T272S	ENSP00000251472:T272S	T	+	2	0	MAST1	12823788	0.000000	0.05858	0.987000	0.45799	0.914000	0.54420	-0.034000	0.12225	2.615000	0.88500	0.484000	0.47621	ACT		0.612	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		G	12962788	C	G	12962788	3	3	47	1	0	0	0	0	1	0	0	0	9326	565	20	4	845	4	MAST1	19	12962788	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08		12962788	46166195	123	3520											
GMIP	51291	broad.mit.edu	37	19	19746264	19746264	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:19746264T>C	ENST00000203556.4	-	15	1657	c.1520A>G	c.(1519-1521)gAg>gGg	p.E507G	GMIP_ENST00000445806.2_Missense_Mutation_p.E478G|GMIP_ENST00000587238.1_Missense_Mutation_p.E481G|GMIP_ENST00000586269.1_5'UTR	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	507					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCTTCGCACTCGCGGCACTT	0.632																																																0													93	84	87					19																	19746264		2203	4300	6503	SO:0001583	missense	51291			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1520A>G	19.37:g.19746264T>C	ENSP00000203556:p.Glu507Gly		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165127	0.57476	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	D;D	0.84223	-1.82;-1.82	4.91	4.91	0.64330	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.151030	0.30602	N	0.009279	D	0.90331	0.6975	M	0.69358	2.11	0.53688	D	0.999979	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.71414	0.973;0.948;0.973	D	0.90656	0.4586	10	0.54805	T	0.06	-16.5884	12.4993	0.55946	0.0:0.0:0.0:1.0	.	478;481;507	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	G	507;478	ENSP00000203556:E507G;ENSP00000397075:E478G	ENSP00000203556:E507G	E	-	2	0	GMIP	19607264	1.000000	0.71417	0.899000	0.35326	0.799000	0.45148	7.635000	0.83286	1.838000	0.53458	0.459000	0.35465	GAG		0.632	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		C	19746264	T	C	19746264	3	2	47	1	0	0	0	0	1	0	0	0	6493	1551	54	3	1420	3	GMIP	19	19746264	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	6783476	19746264	39382719	124	3521											
ZNF708	7562	broad.mit.edu	37	19	21492129	21492129	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:21492129T>A	ENST00000356929.3	-	3	342	c.145A>T	c.(145-147)Aat>Tat	p.N49Y		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	0			K -> E (in dbSNP:rs1781873). {ECO:0000269|PubMed:14702039}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AGGTCTAAATTAGACACAGCA	0.403																																																0													94	94	94					19																	21492129		2203	4300	6503	SO:0001583	missense	7562			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.145A>T	19.37:g.21492129T>A	ENSP00000349401:p.Asn49Tyr		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	15.88	2.962780	0.53507	.	.	ENSG00000182141	ENST00000356929	T	0.00801	5.68	0.225	0.225	0.15325	Krueppel-associated box (3);	.	.	.	.	T	0.01454	0.0047	L	0.52126	1.63	0.24939	N	0.991869	P	0.47106	0.89	P	0.45753	0.492	T	0.49881	-0.8892	8	0.66056	D	0.02	.	.	.	.	.	49	P17019	ZN708_HUMAN	Y	49	ENSP00000349401:N49Y	ENSP00000349401:N49Y	N	-	1	0	ZNF708	21283969	0.142000	0.22610	0.984000	0.44739	0.984000	0.73092	1.132000	0.31418	0.257000	0.21650	0.254000	0.18369	AAT		0.403	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		A	21492129	T	A	21492129	3	1	47	1	0	0	0	0	1	0	0	0	18117	1754	61	5	1554	5	ZNF708	19	21492129	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	1745865	21492129	37636854	125	3522											
LIPE	3991	broad.mit.edu	37	19	42930774	42930774	+	Silent	SNP	C	C	T	rs372514471		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:42930774C>T	ENST00000244289.4	-	1	804	c.528G>A	c.(526-528)acG>acA	p.T176T	LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	176					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTCTTGGGACGTAGATTCAG	0.532																																																0								C		0,4406		0,0,2203	107	103	105		528	-4.8	0	19		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LIPE	NM_005357.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		176/1077	42930774	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.528G>A	19.37:g.42930774C>T			Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	CCDS12607.1																																																																																				0.532	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		T	42930774	C	T	42930774	2	4	47	1	0	0	0	0	0	0	0	1	8823	523	19	1		1	LIPE	19	42930774	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08	21438645	42930774	16198209	126	3523											
PSG7	5676	broad.mit.edu	37	19	43439883	43439883	+	RNA	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:43439883G>T	ENST00000406070.2	-	0	199				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ATCGTGACTTGGGCTGTGGTG	0.488																																																0													138	143	141					19																	43439883		2201	4300	6501			5676					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439883G>T			Q15232	RNA	SNP	ENST00000406070.2	37																																																																																					0.488	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		T	43439883	G	T	43439883	1	4	47	0	1	0	0	0	0	0	0	0	12665	1357	47	4		4	PSG7	19	43439883	RNA	SNP	G	TCGA-A3-3331-01A-01W-0886-08	509109	43439883	15689100	127	3524											
DMWD	1762	broad.mit.edu	37	19	46294225	46294225	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:46294225C>A	ENST00000270223.6	-	2	607	c.562G>T	c.(562-564)Gcg>Tcg	p.A188S	DMWD_ENST00000601370.1_5'UTR|DMWD_ENST00000377735.3_Missense_Mutation_p.A188S	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	188										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		ACTTGACCCGCTGAGAAGCCC	0.557																																																0													157	149	152					19																	46294225		2203	4300	6503	SO:0001583	missense	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.562G>T	19.37:g.46294225C>A	ENSP00000270223:p.Ala188Ser			Missense_Mutation	SNP	ENST00000270223.6	37	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	c	17.30	3.354962	0.61293	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.26660	1.72;1.72	3.87	1.73	0.24493	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.251340	0.31323	N	0.007844	T	0.16342	0.0393	L	0.28400	0.85	0.36174	D	0.848994	P;P	0.38167	0.621;0.487	B;B	0.39738	0.308;0.163	T	0.17319	-1.0373	10	0.15066	T	0.55	-12.7593	8.4144	0.32662	0.0:0.8001:0.0:0.1999	.	188;188	G5E9A7;Q09019	.;DMWD_HUMAN	S	188	ENSP00000366964:A188S;ENSP00000270223:A188S	ENSP00000270223:A188S	A	-	1	0	DMWD	50986065	1.000000	0.71417	0.004000	0.12327	0.662000	0.39071	5.464000	0.66719	0.619000	0.30197	0.556000	0.70494	GCG		0.557	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		A	46294225	C	A	46294225	3	1	47	1	0	0	0	0	1	0	0	0	4595	797	28	4	1478	4	DMWD	19	46294225	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	2854342	46294225	12834758	128	3525											
SAPS1	22870	broad.mit.edu	37	19	55742196	55742197	+	Frame_Shift_Ins	INS	-	-	G	rs550637760	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:55742196_55742197insG	ENST00000412770.2	-	22	3081_3082	c.2515_2516insC	c.(2515-2517)cagfs	p.Q839fs	TMEM86B_ENST00000327042.4_5'Flank|PPP6R1_ENST00000587283.1_Frame_Shift_Ins_p.Q839fs	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	839	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						TTCTGTGGTCTGGGGGGGCTGG	0.703													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	3	0.000599042	0.0	0.0029	5008	,	,		9673	0.001		0.0	False		,,,				2504	0.0															0																																										SO:0001589	frameshift_variant	22870			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2516dupC	19.37:g.55742203_55742203dupG	ENSP00000414202:p.Gln839fs		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Frame_Shift_Ins	INS	ENST00000412770.2	37	CCDS46186.1																																																																																				0.703	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		G	55742197	-	G	55742196	7	5	47	1	0	1	1	0	0	0	0	0	13842	1580	55	0	141	0	SAPS1	19	55742196	Frame_Shift_Ins	INS	-	TCGA-A3-3331-01A-01W-0886-08	9447971	55742196	3386787	129	3526											
NLRP8	126205	broad.mit.edu	37	19	56473528	56473528	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:56473528G>C	ENST00000291971.3	+	4	2209	c.2138G>C	c.(2137-2139)aGt>aCt	p.S713T	NLRP8_ENST00000590542.1_Missense_Mutation_p.S713T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	713					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATGACCAACAGTGTTTTGGGG	0.507																																																0													189	158	168					19																	56473528		2203	4300	6503	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2138G>C	19.37:g.56473528G>C	ENSP00000291971:p.Ser713Thr		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	4.052	0.007423	0.07866	.	.	ENSG00000179709	ENST00000291971	T	0.52983	0.64	1.93	-2.18	0.07037	.	.	.	.	.	T	0.34774	0.0909	L	0.35542	1.07	0.09310	N	1	B;P	0.41524	0.196;0.753	B;P	0.46885	0.222;0.53	T	0.20974	-1.0259	9	0.35671	T	0.21	.	0.6746	0.00864	0.1743:0.2629:0.3333:0.2295	.	713;713	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	713	ENSP00000291971:S713T	ENSP00000291971:S713T	S	+	2	0	NLRP8	61165340	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.248000	0.18198	-0.431000	0.07307	0.508000	0.49915	AGT		0.507	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		C	56473528	G	C	56473528	3	2	47	1	0	0	0	0	1	0	0	0	10485	1029	36	4	2152	4	NLRP8	19	56473528	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	731332	56473528	2655455	130	3527											
SIRPA	140885	broad.mit.edu	37	20	1902132	1902132	+	Silent	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:1902132A>T	ENST00000358771.4	+	3	680	c.528A>T	c.(526-528)tcA>tcT	p.S176S	SIRPA_ENST00000356025.3_Silent_p.S176S|SIRPA_ENST00000400068.3_Silent_p.S176S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	176	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S176S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGGCTTCTCACCCAGAGACA	0.582																																					GBM(155;1668 1920 5945 42733 48121)											1	Substitution - coding silent(1)	kidney(1)											70	67	68					20																	1902132		2203	4297	6500	SO:0001819	synonymous_variant	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.528A>T	20.37:g.1902132A>T			A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	CCDS13022.1																																																																																				0.582	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		T	1902132	A	T	1902132	2	4	47	1	0	0	0	0	0	0	0	1	14338	146	6	5		5	SIRPA	20	1902132	Silent	SNP	A	TCGA-A3-3331-01A-01W-0886-08		1902132	61123388	131	3528											
SLC23A2	9962	broad.mit.edu	37	20	4864398	4864398	+	Silent	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:4864398T>G	ENST00000379333.1	-	9	1106	c.714A>C	c.(712-714)ctA>ctC	p.L238L	SLC23A2_ENST00000338244.1_Silent_p.L238L|snoU13_ENST00000516249.1_RNA|SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	238					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGTACTTCAGTAGAGCCCCAG	0.582																																																0													93	84	87					20																	4864398		2203	4300	6503	SO:0001819	synonymous_variant	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.714A>C	20.37:g.4864398T>G			B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	CCDS13085.1																																																																																				0.582	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			G	4864398	T	G	4864398	2	3	47	1	0	0	0	0	0	0	0	1	14469	1625	57	5		5	SLC23A2	20	4864398	Silent	SNP	T	TCGA-A3-3331-01A-01W-0886-08	2962266	4864398	58161122	132	3529											
MCM8	84515	broad.mit.edu	37	20	5933143	5933143	+	Silent	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:5933143A>C	ENST00000378896.3	+	3	599	c.222A>C	c.(220-222)ccA>ccC	p.P74P	MCM8_ENST00000378883.1_Silent_p.P74P|TRMT6_ENST00000453074.2_5'Flank|MCM8_ENST00000378886.2_Silent_p.P74P|MCM8_ENST00000265187.4_Silent_p.P74P|TRMT6_ENST00000473131.1_5'Flank|TRMT6_ENST00000203001.2_5'Flank	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	74					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GATTCATACCATATAAAGGCT	0.343																																																0													98	111	107					20																	5933143		2203	4299	6502	SO:0001819	synonymous_variant	84515			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.222A>C	20.37:g.5933143A>C			B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	ENST00000378896.3	37	CCDS13094.1																																																																																				0.343	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		C	5933143	A	C	5933143	2	2	47	1	0	0	0	0	0	0	0	1	9395	204	8	5		5	MCM8	20	5933143	Silent	SNP	A	TCGA-A3-3331-01A-01W-0886-08	1068745	5933143	57092377	133	3530											
PLCB1	23236	broad.mit.edu	37	20	8703023	8703023	+	Silent	SNP	C	C	T	rs544749418		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:8703023C>T	ENST00000338037.6	+	15	1563	c.1536C>T	c.(1534-1536)gaC>gaT	p.D512D	PLCB1_ENST00000378637.2_Silent_p.D512D|PLCB1_ENST00000378641.3_Silent_p.D512D|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	512					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CGGAAAGTGACGACGACGATG	0.408																																																0													209	171	184					20																	8703023		2203	4300	6503	SO:0001819	synonymous_variant	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1536C>T	20.37:g.8703023C>T			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	CCDS13102.1																																																																																				0.408	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			T	8703023	C	T	8703023	2	4	47	1	0	0	0	0	0	0	0	1	12029	535	19	1		1	PLCB1	20	8703023	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08	2769880	8703023	54322497	134	3531											
SNAP25	6616	broad.mit.edu	37	20	10258335	10258335	+	Silent	SNP	G	G	A	rs147866099	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:10258335G>A	ENST00000254976.2	+	3	286	c.75G>A	c.(73-75)tcG>tcA	p.S25S	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Silent_p.S25S|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	25	Interaction with CENPF. {ECO:0000250}.|t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AATCTTAGTCGCTGGAAAGCA	0.363													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16756	0.0		0.0	False		,,,				2504	0.0															0													73	70	71					20																	10258335		2203	4300	6503	SO:0001819	synonymous_variant	6616				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"resistance to inhibitors of cholinesterase 4 homolog"	600322	"synaptosomal-associated protein, 25kD"	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.75G>A	20.37:g.10258335G>A			B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Silent	SNP	ENST00000254976.2	37	CCDS13110.1																																																																																				0.363	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		A	10258335	G	A	10258335	2	1	47	1	0	0	0	0	0	0	0	1	14836	1074	38	1		1	SNAP25	20	10258335	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08	1555312	10258335	52767185	135	3532											
TOX2	84969	broad.mit.edu	37	20	42635213	42635213	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:42635213C>T	ENST00000358131.5	+	3	427	c.219C>T	c.(217-219)aaC>aaT	p.N73N	TOX2_ENST00000423191.2_Silent_p.N22N|RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000372999.1_Silent_p.N22N|TOX2_ENST00000341197.4_Silent_p.N64N	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	73					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N73K(2)|p.N22K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGAGAACAACGAAGACTATG	0.557																																																4	Substitution - Missense(4)	lung(4)											179	147	158					20																	42635213		2203	4300	6503	SO:0001819	synonymous_variant	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.219C>T	20.37:g.42635213C>T			A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	CCDS42875.1																																																																																				0.557	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			T	42635213	C	T	42635213	2	4	47	1	0	0	0	0	0	0	0	1	16383	535	19	1		1	TOX2	20	42635213	Silent	SNP	C	TCGA-A3-3331-01A-01W-0886-08	32376878	42635213	20390307	136	3533											
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)gggatgfs	p.M465fs	CECR1_ENST00000262607.3_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.M423fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.M224fs	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564																																																0																																										SO:0001589	frameshift_variant	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1393dupG	22.37:g.17662765_17662765dupC	ENSP00000382733:p.Met465fs		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Frame_Shift_Ins	INS	ENST00000399839.1	37	CCDS13742.1																																																																																				0.564	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			C	17662760	-	C	17662759	7	5	47	1	0	1	1	0	0	0	0	0	3207	1435	50	0	150	0	CECR1	22	17662759	Frame_Shift_Ins	INS	-	TCGA-A3-3331-01A-01W-0886-08		17662759	33641807	137	3534											
DGCR2	9993	broad.mit.edu	37	22	19055739	19055739	+	Splice_Site	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:19055739C>A	ENST00000263196.7	-	3	450		c.e3-1		DGCR2_ENST00000545799.1_Splice_Site|DGCR2_ENST00000473832.1_5'Flank|DGCR2_ENST00000537045.1_Splice_Site	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2						cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CCGGTCACTTCTGAAAGCAAA	0.637																																																0													43	35	38					22																	19055739		2203	4300	6503	SO:0001630	splice_region_variant	9993			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.203-1G>T	22.37:g.19055739C>A			A6NIB5|A8K6K5|B5TY34|B7Z935	Splice_Site	SNP	ENST00000263196.7	37	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441791	0.63067	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7522	0.91820	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGCR2	17435739	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	3.920000	0.56446	2.525000	0.85131	0.650000	0.86243	.		0.637	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137	Intron	A	19055739	C	A	19055739	5	1	47	1	0	0	0	0	0	0	1	0	4463	927	32	4	1482	4	DGCR2	22	19055739	Splice_Site	SNP	C	TCGA-A3-3331-01A-01W-0886-08	1392980	19055739	32248827	138	3535											
BPIL2	254240	broad.mit.edu	37	22	32828366	32828366	+	Missense_Mutation	SNP	C	C	T	rs150852332	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:32828366C>T	ENST00000397452.1	-	11	1253	c.1143G>A	c.(1141-1143)atG>atA	p.M381I	BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.M381I|BPIFC_ENST00000534972.1_Missense_Mutation_p.M105I			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	381						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TTACGAAGTCCATGGAAACGA	0.502																																																0													176	158	164					22																	32828366		2203	4300	6503	SO:0001583	missense	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1143G>A	22.37:g.32828366C>T	ENSP00000380594:p.Met381Ile		A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394668	0.83011	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972	T;T;T	0.05925	3.37;3.37;3.37	5.86	5.86	0.93980	.	0.147481	0.64402	D	0.000007	T	0.17492	0.0420	M	0.83384	2.64	0.41315	D	0.987137	P	0.49253	0.921	P	0.47044	0.535	T	0.00862	-1.1536	10	0.36615	T	0.2	-28.6573	17.1032	0.86655	0.0:1.0:0.0:0.0	.	381	Q8NFQ6	BPIFC_HUMAN	I	381;381;105	ENSP00000380594:M381I;ENSP00000300399:M381I;ENSP00000439123:M105I	ENSP00000300399:M381I	M	-	3	0	BPIFC	31158366	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.993000	0.56987	2.781000	0.95711	0.650000	0.86243	ATG		0.502	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		T	32828366	C	T	32828366	3	4	47	1	0	0	0	0	1	0	0	0	1494	594	21	2	404	2	BPIL2	22	32828366	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	13772627	32828366	18476200	139	3536											
LARGE	9215	broad.mit.edu	37	22	33670592	33670592	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:33670592G>A	ENST00000354992.2	-	16	2663	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	LARGE_ENST00000397394.2_Silent_p.L698L|LARGE_ENST00000337431.2_Silent_p.L646L|LARGE_ENST00000402320.1_Silent_p.L646L|LARGE_ENST00000437602.2_Silent_p.L649L|LARGE_ENST00000452586.2_Silent_p.L497L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	698					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCGTTGGGCAGCACAATGAAC	0.512											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(70;397 1175 4573 19089 45288)											0													114	95	101					22																	33670592		2203	4300	6503	SO:0001819	synonymous_variant	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.2092C>T	22.37:g.33670592G>A		841	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	CCDS13912.1																																																																																				0.512	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		A	33670592	G	A	33670592	2	1	47	1	0	0	0	0	0	0	0	1	8629	962	34	2		2	LARGE	22	33670592	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08	842226	33670592	17633974	140	3537											
EFCAB6	64800	broad.mit.edu	37	22	43924839	43924839	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:43924839C>A	ENST00000262726.7	-	32	4653	c.4400G>T	c.(4399-4401)aGc>aTc	p.S1467I	EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Missense_Mutation_p.S1315I|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1467	EF-hand 16. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GAGGTTGATGCTGTACTGTCT	0.522																																																0													88	90	89					22																	43924839		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4400G>T	22.37:g.43924839C>A	ENSP00000262726:p.Ser1467Ile		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.058510	0.76074	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08546	3.08;3.08	5.12	5.12	0.69794	EF-hand-like domain (1);	0.066333	0.64402	D	0.000014	T	0.19208	0.0461	L	0.48642	1.525	0.80722	D	1	P	0.49783	0.928	P	0.58780	0.845	T	0.00247	-1.1881	10	0.38643	T	0.18	-27.4342	15.8748	0.79154	0.0:1.0:0.0:0.0	.	1467	Q5THR3	EFCB6_HUMAN	I	1315;1467	ENSP00000379533:S1315I;ENSP00000262726:S1467I	ENSP00000262726:S1467I	S	-	2	0	EFCAB6	42256172	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.038000	0.41184	2.538000	0.85594	0.655000	0.94253	AGC		0.522	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		A	43924839	C	A	43924839	3	1	47	1	0	0	0	0	1	0	0	0	4941	797	28	4	109	4	EFCAB6	22	43924839	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	10254247	43924839	7379727	141	3538											
NHS	4810	broad.mit.edu	37	X	17745772	17745772	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:17745772G>A	ENST00000380060.3	+	6	3821	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P	NHS_ENST00000398097.3_Silent_p.P1005P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1182					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGATTAGGCCGCATACAGCAA	0.408																																																0													120	110	113					X																	17745772		2203	4300	6503	SO:0001819	synonymous_variant	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3483G>A	X.37:g.17745772G>A			B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	CCDS14181.1																																																																																				0.408	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		A	17745772	G	A	17745772	2	1	47	1	0	0	0	0	0	0	0	1	10413	1074	38	1		1	NHS	23	17745772	Silent	SNP	G	TCGA-A3-3331-01A-01W-0886-08		17745772	137524788	142	3539											
MAGEB6	158809	broad.mit.edu	37	X	26212243	26212243	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:26212243C>A	ENST00000379034.1	+	2	429	c.280C>A	c.(280-282)Cca>Aca	p.P94T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	94	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGAGAAAAGTCCAAGCACCTC	0.532																																																0													88	81	83					X																	26212243		2202	4300	6502	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.280C>A	X.37:g.26212243C>A	ENSP00000368320:p.Pro94Thr		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	1.984	-0.433508	0.04669	.	.	ENSG00000176746	ENST00000379034	T	0.04917	3.53	1.83	-3.65	0.04502	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.04092	0.0114	L	0.35542	1.07	0.09310	N	1	B	0.28801	0.223	B	0.18263	0.021	T	0.29701	-1.0003	9	0.29301	T	0.29	.	6.6856	0.23144	0.0:0.3992:0.458:0.1428	.	94	Q8N7X4	MAGB6_HUMAN	T	94	ENSP00000368320:P94T	ENSP00000368320:P94T	P	+	1	0	MAGEB6	26122164	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.764000	0.01800	-2.278000	0.00677	-1.711000	0.00714	CCA		0.532	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		A	26212243	C	A	26212243	3	1	47	1	0	0	0	0	1	0	0	0	9181	855	30	4	282	4	MAGEB6	23	26212243	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	8466471	26212243	129058317	143	3540											
MID1IP1	58526	broad.mit.edu	37	X	38664687	38664687	+	Missense_Mutation	SNP	G	G	T	rs199637378		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:38664687G>T	ENST00000336949.6	+	2	1433	c.488G>T	c.(487-489)cGc>cTc	p.R163L	MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000378474.3_Missense_Mutation_p.R163L|MID1IP1_ENST00000457894.1_Missense_Mutation_p.R163L	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	163					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						AAACTCACGCGCAAAGCCAAC	0.617																																																0													41	30	34					X																	38664687		2202	4300	6502	SO:0001583	missense	58526				CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"gastrulation specific G12 homolog (zebrafish)"		"MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.488G>T	X.37:g.38664687G>T	ENSP00000338706:p.Arg163Leu		D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718928	0.30503	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.96	4.09	0.47781	.	0.517119	0.18196	N	0.148674	T	0.46678	0.1405	L	0.33710	1.025	0.50171	D	0.999857	P	0.49862	0.929	P	0.45639	0.488	T	0.31166	-0.9953	9	0.30078	T	0.28	-23.586	14.5295	0.67915	0.0:0.1433:0.8567:0.0	.	163	Q9NPA3	M1IP1_HUMAN	L	163	.	ENSP00000338706:R163L	R	+	2	0	MID1IP1	38549631	0.920000	0.31207	1.000000	0.80357	0.984000	0.73092	2.915000	0.48805	1.074000	0.40909	0.529000	0.55759	CGC		0.617	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			T	38664687	G	T	38664687	3	4	47	1	0	0	0	0	1	0	0	0	9579	1087	38	4	490	4	MID1IP1	23	38664687	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	12452444	38664687	116605873	144	3541											
DGKK	139189	broad.mit.edu	37	X	50129521	50129521	+	RNA	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:50129521T>A	ENST00000376025.2	-	0	2241							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCAGCAGAAGTAGCTGCTGCC	0.458																																																0													122	101	108					X																	50129521		2067	4194	6261			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50129521T>A			B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																					0.458	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		A	50129521	T	A	50129521	1	1	47	0	1	0	0	0	0	0	0	0	4474	1638	57	5		5	DGKK	23	50129521	RNA	SNP	T	TCGA-A3-3331-01A-01W-0886-08	11464834	50129521	105141039	145	3542											
KDM5C	8242	broad.mit.edu	37	X	53222170	53222170	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:53222170C>A	ENST00000375401.3	-	26	5194	c.4662G>T	c.(4660-4662)caG>caT	p.Q1554H	KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1510H|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1553H|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1551H|KDM5C_ENST00000452825.3_Intron	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1554					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCTGAGGCGGCTGCTGTGGGC	0.617			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													19	21	20					X																	53222170		2190	4269	6459	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4662G>T	X.37:g.53222170C>A	ENSP00000364550:p.Gln1554His		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	12.68	2.012085	0.35511	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.85013	-1.79;-1.79;-1.79;-1.93	4.63	3.72	0.42706	.	0.260090	0.23575	U	0.046713	T	0.79528	0.4461	L	0.46157	1.445	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.77948	-0.2396	10	0.66056	D	0.02	-11.9094	10.0872	0.42425	0.0:0.802:0.198:0.0	.	1553;1554	B0QZ44;P41229	.;KDM5C_HUMAN	H	1554;1553;1551;1510	ENSP00000364550:Q1554H;ENSP00000385394:Q1553H;ENSP00000364528:Q1551H;ENSP00000364532:Q1510H	ENSP00000364528:Q1551H	Q	-	3	2	KDM5C	53238895	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.510000	0.53393	1.917000	0.55516	0.407000	0.27541	CAG		0.617	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53222170	C	A	53222170	3	1	47	1	0	0	0	0	1	0	0	0	8137	796	28	4	122	4	KDM5C	23	53222170	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	3092649	53222170	102048390	146	3543											
HUWE1	10075	broad.mit.edu	37	X	53564526	53564526	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:53564526T>G	ENST00000342160.3	-	77	12585	c.12128A>C	c.(12127-12129)aAg>aCg	p.K4043T	HUWE1_ENST00000262854.6_Missense_Mutation_p.K4043T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4043	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAATCGATTCTTCATTTCTTC	0.542																																																0													94	64	74					X																	53564526		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12128A>C	X.37:g.53564526T>G	ENSP00000340648:p.Lys4043Thr		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.98|15.98	2.992196|2.992196	0.54041|0.54041	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|D;D	.|0.82255	.|-1.59;-1.59	5.78|5.78	5.78|5.78	0.91487|0.91487	.|HECT (3);	.|0.054011	.|0.64402	.|D	.|0.000001	D|D	0.92612|0.92612	0.7653|0.7653	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.987;0.993	.|D;D;D	.|0.79108	.|0.986;0.981;0.992	D|D	0.94004|0.94004	0.7278|0.7278	5|10	.|0.87932	.|D	.|0	.|.	12.708|12.708	0.57073|0.57073	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|865;4043;4027	.|Q5H935;Q7Z6Z7;Q7Z6Z7-2	.|.;HUWE1_HUMAN;.	D|T	3076;865|4043	.|ENSP00000340648:K4043T;ENSP00000262854:K4043T	.|ENSP00000262854:K4043T	E|K	-|-	3|2	2|0	HUWE1|HUWE1	53581251|53581251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.263000|7.263000	0.78421|0.78421	2.058000|2.058000	0.61347|0.61347	0.486000|0.486000	0.48141|0.48141	GAA|AAG		0.542	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		G	53564526	T	G	53564526	3	3	47	1	0	0	0	0	1	0	0	0	7463	1609	56	5	1024	5	HUWE1	23	53564526	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	342356	53564526	101706034	147	3544											
ZC4H2	55906	broad.mit.edu	37	X	64137703	64137703	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:64137703G>A	ENST00000374839.3	-	5	741	c.635C>T	c.(634-636)tCc>tTc	p.S212F	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.S189F|ZC4H2_ENST00000545618.1_Missense_Mutation_p.S207F|ZC4H2_ENST00000447788.2_Missense_Mutation_p.P158S	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	212					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGGGTTCCGGGACCGACTCTT	0.488																																																0													148	97	114					X																	64137703		2203	4300	6503	SO:0001583	missense	55906			AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"Zinc fingers"	24931	protein-coding gene	gene with protein product		300897	"KIAA1166", "Wieacker-Wolff syndrome"	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.635C>T	X.37:g.64137703G>A	ENSP00000363972:p.Ser212Phe		B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	CCDS14380.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.759127|4.759127	0.89843|0.89843	.|.	.|.	ENSG00000126970|ENSG00000126970	ENST00000447788|ENST00000545618;ENST00000374839;ENST00000337990	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79522|0.79522	0.4460|0.4460	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|D	0.17465|0.60160	0.022|0.987	B|D	0.19391|0.77557	0.025|0.99	T|T	0.82163|0.82163	-0.0593|-0.0593	7|8	0.21540|0.87932	T|D	0.41|0	.|.	15.7662|15.7662	0.78128|0.78128	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158|212	B4DED0|Q9NQZ6	.|ZC4H2_HUMAN	S|F	158|207;212;189	.|.	ENSP00000399126:P158S|ENSP00000338650:S189F	P|S	-|-	1|2	0|0	ZC4H2|ZC4H2	64054428|64054428	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	9.097000|9.097000	0.94193|0.94193	2.408000|2.408000	0.81797|0.81797	0.594000|0.594000	0.82650|0.82650	CCC|TCC		0.488	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		A	64137703	G	A	64137703	3	1	47	1	0	0	0	0	1	0	0	0	17583	1174	41	2	62	2	ZC4H2	23	64137703	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	10573177	64137703	91132857	148	3545											
KIF4A	24137	broad.mit.edu	37	X	69624620	69624620	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:69624620A>G	ENST00000374403.3	+	25	2928	c.2846A>G	c.(2845-2847)gAg>gGg	p.E949G	KIF4A_ENST00000374388.3_Missense_Mutation_p.E949G	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	949	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AAGCAGTTAGAGGAATCAGTC	0.483																																																0													107	76	87					X																	69624620		2203	4299	6502	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2846A>G	X.37:g.69624620A>G	ENSP00000363524:p.Glu949Gly		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419323	0.42918	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.69926	-0.44;-0.42	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000015	T	0.59742	0.2216	L	0.56769	1.78	0.45272	D	0.99827	B	0.19706	0.038	B	0.20577	0.03	T	0.55964	-0.8057	9	.	.	.	.	9.4408	0.38668	0.8241:0.1758:0.0:0.0	.	949	O95239	KIF4A_HUMAN	G	949;949;251	ENSP00000363509:E949G;ENSP00000363524:E949G	.	E	+	2	0	KIF4A	69541345	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	3.218000	0.51192	1.889000	0.54706	0.481000	0.45027	GAG		0.483	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		G	69624620	A	G	69624620	3	3	47	1	0	0	0	0	1	0	0	0	8305	304	11	3	2940	3	KIF4A	23	69624620	Missense_Mutation	SNP	A	TCGA-A3-3331-01A-01W-0886-08	5486917	69624620	85645940	149	3546											
TBX22	50945	broad.mit.edu	37	X	79286340	79286340	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:79286340T>G	ENST00000373294.5	+	8	1321	c.1293T>G	c.(1291-1293)gaT>gaG	p.D431E	TBX22_ENST00000442340.1_Missense_Mutation_p.D311E|TBX22_ENST00000373291.1_Missense_Mutation_p.D311E|TBX22_ENST00000373296.3_Missense_Mutation_p.D431E	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	431					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCAGTGATCAGTATCTAC	0.423																																																0													133	126	128					X																	79286340		2203	4300	6503	SO:0001583	missense	50945			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1293T>G	X.37:g.79286340T>G	ENSP00000362390:p.Asp431Glu		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	T	0.531	-0.857996	0.02610	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	4.12	-1.36	0.09085	.	7739.210000	0.00166	N	0.000000	T	0.50377	0.1612	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39313	-0.9620	10	0.12430	T	0.62	.	1.0958	0.01673	0.2343:0.1191:0.3885:0.2581	.	431	Q9Y458	TBX22_HUMAN	E	431;311;431;311	ENSP00000362393:D431E;ENSP00000396394:D311E;ENSP00000362390:D431E;ENSP00000362388:D311E	ENSP00000362388:D311E	D	+	3	2	TBX22	79172996	0.677000	0.27577	0.008000	0.14137	0.005000	0.04900	-0.339000	0.07832	-0.806000	0.04398	-0.483000	0.04790	GAT		0.423	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		G	79286340	T	G	79286340	3	3	47	1	0	0	0	0	1	0	0	0	15663	1432	50	5	1323	5	TBX22	23	79286340	Missense_Mutation	SNP	T	TCGA-A3-3331-01A-01W-0886-08	9661720	79286340	75984220	150	3547											
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs281874665|rs281874666|rs104886321|rs104886113		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:107834821_107834822insC	ENST00000361603.2	+	21	1614_1615	c.1370_1371insC	c.(1369-1374)ggccccfs	p.GP457fs	COL4A5_ENST00000328300.6_Frame_Shift_Ins_p.GP457fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX). {ECO:0000269|PubMed:9848783}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis																																							0			GRCh37	CD961911	COL4A5	D																																				SO:0001589	frameshift_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1376dupC	X.37:g.107834827_107834827dupC	ENSP00000354505:p.Gly457fs		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Ins	INS	ENST00000361603.2	37	CCDS14543.1																																																																																				0.406	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			C	107834822	-	C	107834821	7	5	47	1	0	1	1	0	0	0	0	0	3696	1203	42	0	1452	0	COL4A5	23	107834821	Frame_Shift_Ins	INS	-	TCGA-A3-3331-01A-01W-0886-08	28548481	107834821	47435739	151	3548											
COL4A5	1287	broad.mit.edu	37	X	107930823	107930823	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:107930823C>G	ENST00000361603.2	+	47	4653	c.4409C>G	c.(4408-4410)aCa>aGa	p.T1470R	COL4A5_ENST00000328300.6_Missense_Mutation_p.T1476R	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1470	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CACAGCCAGACAACGGATGCA	0.517									Alport syndrome with Diffuse Leiomyomatosis																																							0													142	127	132					X																	107930823		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4409C>G	X.37:g.107930823C>G	ENSP00000354505:p.Thr1470Arg		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.326886|4.326886	0.81690|0.81690	.|.	.|.	ENSG00000188153|ENSG00000188153	ENST00000515658|ENST00000328300;ENST00000361603;ENST00000508186	.|D;D	.|0.94897	.|-3.55;-3.55	5.58|5.58	5.58|5.58	0.84498|0.84498	.|C-type lectin fold (1);	.|0.184608	.|0.47093	.|D	.|0.000241	D|D	0.97564|0.97564	0.9202|0.9202	M|M	0.86028|0.86028	2.79|2.79	0.53005|0.53005	D|D	0.999962|0.999962	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.98256|0.98256	1.0496|1.0496	5|10	.|0.87932	.|D	.|0	.|.	18.6316|18.6316	0.91361|0.91361	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1473;1470	.|E7EVY4;P29400	.|.;CO4A5_HUMAN	E|R	75|1476;1470;1476	.|ENSP00000331902:T1476R;ENSP00000354505:T1470R	.|ENSP00000331902:T1476R	Q|T	+|+	1|2	0|0	COL4A5|COL4A5	107817479|107817479	0.979000|0.979000	0.34478|0.34478	0.998000|0.998000	0.56505|0.56505	0.887000|0.887000	0.51463|0.51463	2.570000|2.570000	0.45981|0.45981	2.343000|2.343000	0.79666|0.79666	0.600000|0.600000	0.82982|0.82982	CAA|ACA		0.517	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			G	107930823	C	G	107930823	3	3	47	1	0	0	0	0	1	0	0	0	3696	478	17	4	4606	4	COL4A5	23	107930823	Missense_Mutation	SNP	C	TCGA-A3-3331-01A-01W-0886-08	96002	107930823	47339737	152	3549											
LAMP2	3920	broad.mit.edu	37	X	119575704	119575705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:119575704_119575705insG	ENST00000200639.4	-	8	1109_1110	c.973_974insC	c.(973-975)ctgfs	p.L325fs	LAMP2_ENST00000434600.2_Frame_Shift_Ins_p.L325fs|LAMP2_ENST00000540603.1_Frame_Shift_Ins_p.L278fs|LAMP2_ENST00000371335.4_Frame_Shift_Ins_p.L325fs|LAMP2_ENST00000538785.1_Frame_Shift_Ins_p.L214fs			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	325	Second lumenal domain.			DAPLG -> MPP (in Ref. 1; AAA60383). {ECO:0000305}.	blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AGAACTTCCCAGGGGGGCATCC	0.391																																																0			GRCh37	CX003730	LAMP2	X																																				SO:0001589	frameshift_variant	3920			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.974dupC	X.37:g.119575710_119575710dupG	ENSP00000200639:p.Leu325fs		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Frame_Shift_Ins	INS	ENST00000200639.4	37	CCDS14599.1																																																																																				0.391	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			G	119575705	-	G	119575704	7	5	47	1	0	1	1	0	0	0	0	0	8620	188	7	0	557	0	LAMP2	23	119575704	Frame_Shift_Ins	INS	-	TCGA-A3-3331-01A-01W-0886-08	11644881	119575704	35694856	153	3550											
IDS	3423	broad.mit.edu	37	X	148564298	148564298	+	Silent	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:148564298A>C	ENST00000340855.6	-	9	1841	c.1632T>G	c.(1630-1632)ctT>ctG	p.L544L	IDS_ENST00000541269.1_Silent_p.L333L|IDS_ENST00000422081.2_Silent_p.L333L|IDS_ENST00000537071.1_Silent_p.L147L	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	544					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACAACTGGAAAAGATCTCCAC	0.448																																																0													75	62	66					X																	148564298		2203	4300	6503	SO:0001819	synonymous_variant	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1632T>G	X.37:g.148564298A>C			D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	CCDS14685.1																																																																																				0.448	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			C	148564298	A	C	148564298	2	2	47	1	0	0	0	0	0	0	0	1	7505	1	1	5		5	IDS	23	148564298	Silent	SNP	A	TCGA-A3-3331-01A-01W-0886-08	28988594	148564298	6706262	154	3551											
PASD1	139135	broad.mit.edu	37	X	150842424	150842425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:150842424_150842425insC	ENST00000370357.4	+	15	2186_2187	c.1941_1942insC	c.(1942-1944)cccfs	p.P648fs		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	648						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTATCAAGGGCCCCCCGTGAA	0.455																																																0																																										SO:0001589	frameshift_variant	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1947dupC	X.37:g.150842430_150842430dupC	ENSP00000359382:p.Pro648fs		Q3MNE0|Q69HD7|Q8N7X9	Frame_Shift_Ins	INS	ENST00000370357.4	37	CCDS35431.1																																																																																				0.455	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		C	150842425	-	C	150842424	7	5	47	1	0	1	1	0	0	0	0	0	11473	1190	42	0	1995	0	PASD1	23	150842424	Frame_Shift_Ins	INS	-	TCGA-A3-3331-01A-01W-0886-08	2278126	150842424	4428136	155	3552											
CNGA2	1260	broad.mit.edu	37	X	150912423	150912423	+	Missense_Mutation	SNP	G	G	A	rs374694060		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:150912423G>A	ENST00000329903.4	+	6	1481	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	483					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					tacatttgccgcaaaggggac	0.527													G|||	1	0.000264901	0.0008	0.0	3775	,	,		16316	0.0		0.0	False		,,,				2504	0.0															0								G	HIS/ARG	5,3830		0,4,1,1628,570	131	112	118		1448	4.4	1	X		118	0,6728		0,0,0,2428,1872	no	missense	CNGA2	NM_005140.1	29	0,4,1,4056,2442	AA,AG,A,GG,G		0.0,0.1304,0.0473	probably-damaging	483/665	150912423	5,10558	2203	4300	6503	SO:0001583	missense	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1448G>A	X.37:g.150912423G>A	ENSP00000328478:p.Arg483His		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205767	0.58234	0.001304	0.0	ENSG00000183862	ENST00000329903	D	0.93247	-3.19	5.27	4.41	0.53225	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.050712	0.85682	N	0.000000	D	0.95896	0.8664	M	0.74389	2.26	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.95498	0.8575	10	0.72032	D	0.01	.	10.9848	0.47516	0.0938:0.0:0.9062:0.0	.	483	Q16280	CNGA2_HUMAN	H	483	ENSP00000328478:R483H	ENSP00000328478:R483H	R	+	2	0	CNGA2	150663079	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.629000	0.83207	1.005000	0.39183	-0.260000	0.10688	CGC		0.527	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		A	150912423	G	A	150912423	3	1	47	1	0	0	0	0	1	0	0	0	3599	1087	38	1	1470	1	CNGA2	23	150912423	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	69999	150912423	4358137	156	3553											
CNGA2	1260	broad.mit.edu	37	X	150912764	150912764	+	Missense_Mutation	SNP	G	G	A	rs369458388		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:150912764G>A	ENST00000329903.4	+	6	1822	c.1789G>A	c.(1789-1791)Gtg>Atg	p.V597M		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	597					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGTCGACGTGCAGGAGAA	0.577																																																0								G	MET/VAL	1,3834		0,1,1631,571	186	144	158		1789	4.6	0.8	X		158	0,6728		0,0,2428,1872	no	missense	CNGA2	NM_005140.1	21	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign	597/665	150912764	1,10562	2203	4300	6503	SO:0001583	missense	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1789G>A	X.37:g.150912764G>A	ENSP00000328478:p.Val597Met		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	7.894	0.732934	0.15507	2.61E-4	0.0	ENSG00000183862	ENST00000329903	D	0.97642	-4.47	5.47	4.61	0.57282	.	0.179489	0.49916	N	0.000137	D	0.92286	0.7553	L	0.35793	1.09	0.36893	D	0.889997	B	0.30851	0.297	B	0.14023	0.01	D	0.90014	0.4123	10	0.34782	T	0.22	.	7.1849	0.25795	0.0939:0.167:0.7391:0.0	.	597	Q16280	CNGA2_HUMAN	M	597	ENSP00000328478:V597M	ENSP00000328478:V597M	V	+	1	0	CNGA2	150663420	0.950000	0.32346	0.825000	0.32803	0.873000	0.50193	2.180000	0.42537	1.075000	0.40932	-0.176000	0.13171	GTG		0.577	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		A	150912764	G	A	150912764	3	1	47	1	0	0	0	0	1	0	0	0	3599	1145	40	1	1811	1	CNGA2	23	150912764	Missense_Mutation	SNP	G	TCGA-A3-3331-01A-01W-0886-08	341	150912764	4357796	157	3554											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11177096	11177096	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr1:11177096C>T	ENST00000361445.4	-	50	7057	c.6981G>A	c.(6979-6981)atG>atA	p.M2327I	MTOR_ENST00000376838.1_Missense_Mutation_p.M532I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2327	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAACCATTGACATGACCGCTA	0.383																																																0													152	144	147					1																	11177096		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6981G>A	1.37:g.11177096C>T	ENSP00000354558:p.Met2327Ile		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107034	0.94292	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.75477	-0.94;-0.94	5.69	5.69	0.88448	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.89262	0.6665	M	0.90425	3.115	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.90869	0.4744	10	0.87932	D	0	-22.7563	18.7966	0.91997	0.0:1.0:0.0:0.0	.	2327	P42345	MTOR_HUMAN	I	2327;532	ENSP00000354558:M2327I;ENSP00000366034:M532I	ENSP00000354558:M2327I	M	-	3	0	MTOR	11099683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.266000	0.78452	2.687000	0.91594	0.462000	0.41574	ATG		0.383	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11177096	C	T	11177096	3	4	48	1	0	0	0	0	1	0	0	0	9956	478	17	2	704	2	MTOR	1	11177096	Missense_Mutation	SNP	C	TCGA-A3-3347-01A-02D-1386-10		11177096	238073525	1	3555											
USP48	84196	broad.mit.edu;ucsc.edu	37	1	22032266	22032266	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr1:22032266C>G	ENST00000308271.9	-	19	2986	c.2338G>C	c.(2338-2340)Ggc>Cgc	p.G780R	USP48_ENST00000400301.1_Missense_Mutation_p.G780R|USP48_ENST00000529637.1_Missense_Mutation_p.G792R|USP48_ENST00000374732.3_Missense_Mutation_p.G318R	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	780	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AACATGAGGCCCCCGTGGGGA	0.403																																																0													64	69	67					1																	22032266		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2338G>C	1.37:g.22032266C>G	ENSP00000309262:p.Gly780Arg		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635646	0.87760	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T	0.05199	3.53;3.51;3.48	5.7	5.7	0.88788	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.994;1.0	D;D;D;P;D	0.97110	0.999;0.944;0.995;0.88;1.0	T	0.00155	-1.1980	10	0.54805	T	0.06	.	18.8179	0.92085	0.0:1.0:0.0:0.0	.	792;780;780;780;318	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	R	780;780;318;792	ENSP00000383157:G780R;ENSP00000309262:G780R;ENSP00000431949:G792R	ENSP00000309262:G780R	G	-	1	0	USP48	21904853	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.994000	0.76251	2.697000	0.92050	0.557000	0.71058	GGC		0.403	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		G	22032266	C	G	22032266	3	3	48	1	0	0	0	0	1	0	0	0	17084	623	22	4	805	4	USP48	1	22032266	Missense_Mutation	SNP	C	TCGA-A3-3347-01A-02D-1386-10	10855170	22032266	227218355	2	3556											
THEM5	284486	broad.mit.edu	37	1	151820746	151820746	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr1:151820746C>G	ENST00000368817.5	-	4	618	c.487G>C	c.(487-489)Gca>Cca	p.A163P	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	163					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCATGGCTGCCAGGGACCCG	0.587																																																0													45	46	46					1																	151820746		2203	4300	6503	SO:0001583	missense	284486			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.487G>C	1.37:g.151820746C>G	ENSP00000357807:p.Ala163Pro		Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	CCDS1005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.10|19.10	3.762430|3.762430	0.69763|0.69763	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000368817|ENST00000453881	T|.	0.25579|.	1.79|.	5.42|5.42	2.53|2.53	0.30540|0.30540	Thioesterase superfamily (1);|.	0.175991|.	0.48767|.	D|.	0.000163|.	T|T	0.59307|0.59307	0.2184|0.2184	M|M	0.89601|0.89601	3.045|3.045	0.35288|0.35288	D|D	0.78197|0.78197	D|.	0.58970|.	0.984|.	P|.	0.54815|.	0.761|.	T|T	0.61481|0.61481	-0.7054|-0.7054	10|5	0.62326|.	D|.	0.03|.	-15.5083|-15.5083	4.8491|4.8491	0.13528|0.13528	0.1704:0.6523:0.0:0.1774|0.1704:0.6523:0.0:0.1774	.|.	163|.	Q8N1Q8|.	THEM5_HUMAN|.	P|C	163|109	ENSP00000357807:A163P|.	ENSP00000357807:A163P|.	A|W	-|-	1|3	0|0	THEM5|THEM5	150087370|150087370	0.976000|0.976000	0.34144|0.34144	0.996000|0.996000	0.52242|0.52242	0.882000|0.882000	0.50991|0.50991	1.050000|1.050000	0.30404|0.30404	0.268000|0.268000	0.21939|0.21939	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.587	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		G	151820746	C	G	151820746	3	3	48	1	0	0	0	0	1	0	0	0	15864	739	26	4	268	4	THEM5	1	151820746	Missense_Mutation	SNP	C	TCGA-A3-3347-01A-02D-1386-10	129788480	151820746	97429875	3	3557											
PLEKHA6	22874	broad.mit.edu;ucsc.edu	37	1	204236640	204236640	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr1:204236640C>A	ENST00000272203.3	-	5	559	c.243G>T	c.(241-243)tgG>tgT	p.W81C	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.W81C	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	81	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCAGGACGAACCAGCGCTTGT	0.587																																																0													115	87	97					1																	204236640		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.243G>T	1.37:g.204236640C>A	ENSP00000272203:p.Trp81Cys		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234900	0.79800	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.27402	1.67;1.67	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87066	0.2156	10	0.87932	D	0	-18.7037	19.0239	0.92925	0.0:1.0:0.0:0.0	.	81	Q9Y2H5	PKHA6_HUMAN	C	81	ENSP00000272203:W81C;ENSP00000402046:W81C	ENSP00000272203:W81C	W	-	3	0	PLEKHA6	202503263	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.334000	0.72944	2.580000	0.87095	0.549000	0.68633	TGG		0.587	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		A	204236640	C	A	204236640	3	1	48	1	0	0	0	0	1	0	0	0	12062	508	18	4	2975	4	PLEKHA6	1	204236640	Missense_Mutation	SNP	C	TCGA-A3-3347-01A-02D-1386-10	52415894	204236640	45013981	4	3558											
FAM110C	642273	broad.mit.edu	37	2	46063	46063	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr2:46063T>A	ENST00000327669.4	-	1	322	c.323A>T	c.(322-324)gAa>gTa	p.E108V		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	108					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		TCGCACGAATTCGCATTTCTG	0.711																																																0													25	27	26					2																	46063		1902	4093	5995	SO:0001583	missense	642273			DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.323A>T	2.37:g.46063T>A	ENSP00000328347:p.Glu108Val			Missense_Mutation	SNP	ENST00000327669.4	37	CCDS42645.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.032482	0.54790	.	.	ENSG00000184731	ENST00000327669	T	0.36340	1.26	4.05	2.83	0.33086	.	0.309721	0.33895	N	0.004449	T	0.23727	0.0574	N	0.14661	0.345	0.27164	N	0.961094	D	0.61697	0.99	P	0.48524	0.58	T	0.09465	-1.0673	10	0.87932	D	0	-11.3746	4.2933	0.10888	0.0:0.1111:0.2067:0.6822	.	108	Q1W6H9	F110C_HUMAN	V	108	ENSP00000328347:E108V	ENSP00000328347:E108V	E	-	2	0	FAM110C	36063	0.997000	0.39634	0.876000	0.34364	0.281000	0.26958	2.288000	0.43514	0.483000	0.27608	0.451000	0.29950	GAA		0.711	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		A	46063	T	A	46063	3	1	48	1	0	0	0	0	1	0	0	0	5400	1783	62	5	650	5	FAM110C	2	46063	Missense_Mutation	SNP	T	TCGA-A3-3347-01A-02D-1386-10		46063	243153310	5	3559											
PER2	8864	broad.mit.edu;ucsc.edu	37	2	239181739	239181739	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr2:239181739A>T	ENST00000254657.3	-	5	821	c.542T>A	c.(541-543)gTt>gAt	p.V181D	PER2_ENST00000440245.1_Missense_Mutation_p.V181D|PER2_ENST00000355768.2_Missense_Mutation_p.V181D|PER2_ENST00000254658.3_Missense_Mutation_p.V181D	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	181	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CTCAGAGGTAACGCTCTCCAT	0.542																																																0													119	95	103					2																	239181739		2203	4300	6503	SO:0001583	missense	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.542T>A	2.37:g.239181739A>T	ENSP00000254657:p.Val181Asp		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.991153	0.35131	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.50001	2.73;0.76;1.83;0.76	4.81	-0.683	0.11335	PAS (1);	0.605862	0.16688	N	0.203679	T	0.49949	0.1587	L	0.46157	1.445	0.09310	N	1	P;P;P;P	0.52170	0.951;0.93;0.951;0.859	P;P;P;B	0.55871	0.576;0.543;0.786;0.439	T	0.46034	-0.9220	10	0.87932	D	0	-2.4278	8.6584	0.34077	0.6658:0.0:0.3342:0.0	.	181;181;181;181	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	D	181	ENSP00000254657:V181D;ENSP00000254658:V181D;ENSP00000397516:V181D;ENSP00000348013:V181D	ENSP00000254657:V181D	V	-	2	0	PER2	238846478	0.918000	0.31147	0.001000	0.08648	0.010000	0.07245	3.298000	0.51818	-0.280000	0.09154	0.533000	0.62120	GTT		0.542	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		T	239181739	A	T	239181739	3	4	48	1	0	0	0	0	1	0	0	0	11732	43	2	5	3301	5	PER2	2	239181739	Missense_Mutation	SNP	A	TCGA-A3-3347-01A-02D-1386-10	239135676	239181739	4017634	6	3560											
ITIH4	3700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52858939	52858939	+	Silent	SNP	G	G	A	rs375739396		TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr3:52858939G>A	ENST00000266041.4	-	7	891	c.795C>T	c.(793-795)ccC>ccT	p.P265P	ITIH4-AS1_ENST00000478366.1_RNA|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000434759.3_Silent_p.P177P|ITIH4_ENST00000346281.5_Silent_p.P265P|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000485816.1_Silent_p.P265P|ITIH4_ENST00000406595.1_Silent_p.P265P	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	265					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TTAGGCCCTCGGGGGCAAAGT	0.557																																																0													105	97	99					3																	52858939		2203	4300	6503	SO:0001819	synonymous_variant	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.795C>T	3.37:g.52858939G>A			B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	8.026	0.760638	0.15914	.	.	ENSG00000055955	ENST00000441637	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.3186	11.2919	0.49256	0.1948:0.0:0.5526:0.2526	.	.	.	.	X	123	.	.	R	-	1	2	ITIH4	52833979	0.000000	0.05858	0.023000	0.16930	0.929000	0.56500	-4.553000	0.00216	-2.847000	0.00332	-0.975000	0.02590	CGA		0.557	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		A	52858939	G	A	52858939	2	1	48	1	0	0	0	0	0	0	0	1	7908	1103	39	1		1	ITIH4	3	52858939	Silent	SNP	G	TCGA-A3-3347-01A-02D-1386-10		52858939	145163491	7	3561											
BOC	91653	broad.mit.edu	37	3	112993348	112993348	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr3:112993348C>G	ENST00000495514.1	+	9	2065	c.1361C>G	c.(1360-1362)tCa>tGa	p.S454*	BOC_ENST00000355385.3_Nonsense_Mutation_p.S454*|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000273395.4_Nonsense_Mutation_p.S454*			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	454					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCCCCAACGTCAGTGGGGCCT	0.667																																																0													32	34	33					3																	112993348		2203	4300	6503	SO:0001587	stop_gained	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1361C>G	3.37:g.112993348C>G	ENSP00000418663:p.Ser454*		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Nonsense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	40	8.202006	0.98704	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	.	.	.	5.62	3.83	0.44106	.	0.547984	0.18791	N	0.131055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	11.6327	0.51185	0.0:0.8084:0.1244:0.0672	.	.	.	.	X	454	.	ENSP00000273395:S454X	S	+	2	0	BOC	114476038	0.021000	0.18746	0.001000	0.08648	0.003000	0.03518	2.836000	0.48183	0.738000	0.32606	0.563000	0.77884	TCA		0.667	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		G	112993348	C	G	112993348	4	3	48	1	0	0	0	0	0	1	0	0	1481	838	29	4	1387	4	BOC	3	112993348	Nonsense_Mutation	SNP	C	TCGA-A3-3347-01A-02D-1386-10	60134409	112993348	85029082	8	3562											
EIF2A	83939	broad.mit.edu;ucsc.edu	37	3	150264607	150264607	+	Silent	SNP	G	G	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr3:150264607G>C	ENST00000460851.1	+	1	127	c.18G>C	c.(16-18)ccG>ccC	p.P6P	EIF2A_ENST00000406576.3_Silent_p.P6P|EIF2A_ENST00000487799.1_Silent_p.P6P|SERP1_ENST00000487153.1_5'Flank|EIF2A_ENST00000273435.5_Silent_p.P6P|SERP1_ENST00000479209.1_5'UTR|SERP1_ENST00000491660.1_5'Flank|SERP1_ENST00000239944.2_5'Flank			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	6					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGTCCACGCCGCTCTTGACAG	0.562																																																0													85	92	90					3																	150264607		1851	4081	5932	SO:0001819	synonymous_variant	83939			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.18G>C	3.37:g.150264607G>C			A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Silent	SNP	ENST00000460851.1	37	CCDS46935.1																																																																																				0.562	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		C	150264607	G	C	150264607	2	2	48	1	0	0	0	0	0	0	0	1	4997	1074	38	4		4	EIF2A	3	150264607	Silent	SNP	G	TCGA-A3-3347-01A-02D-1386-10	37271259	150264607	47757823	9	3563											
C3orf70	285382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184801259	184801259	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr3:184801259T>C	ENST00000335012.2	-	2	479	c.289A>G	c.(289-291)Atc>Gtc	p.I97V		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	97										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GAGACTGAGATCTGAATGGTG	0.498																																																0													76	78	78					3																	184801259		2203	4300	6503	SO:0001583	missense	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.289A>G	3.37:g.184801259T>C	ENSP00000334974:p.Ile97Val		B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210064	0.58343	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.79	5.79	0.91817	.	0.063063	0.64402	D	0.000004	T	0.40645	0.1125	N	0.19112	0.55	0.45403	D	0.998386	P	0.38597	0.639	B	0.36959	0.237	T	0.39272	-0.9622	9	0.48119	T	0.1	.	15.8088	0.78538	0.0:0.0:0.0:1.0	.	97	A6NLC5	CC070_HUMAN	V	97	.	ENSP00000334974:I97V	I	-	1	0	C3orf70	186283953	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.284000	0.72652	2.207000	0.71202	0.533000	0.62120	ATC		0.498	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		C	184801259	T	C	184801259	3	2	48	1	0	0	0	0	1	0	0	0	2244	1435	50	3	467	3	C3orf70	3	184801259	Missense_Mutation	SNP	T	TCGA-A3-3347-01A-02D-1386-10	34536652	184801259	13221171	10	3564											
QRFPR	84109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	122250674	122250674	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr4:122250674T>C	ENST00000394427.2	-	6	1502	c.1091A>G	c.(1090-1092)aAt>aGt	p.N364S	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	364					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AATTCCTGAATTTCCATGCCT	0.368																																																0													162	160	161					4																	122250674		2203	4300	6503	SO:0001583	missense	84109			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1091A>G	4.37:g.122250674T>C	ENSP00000377948:p.Asn364Ser			Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	T	7.955	0.745809	0.15710	.	.	ENSG00000186867	ENST00000394427	T	0.71934	-0.61	4.43	0.326	0.15908	.	0.464741	0.23852	N	0.043936	T	0.46521	0.1397	N	0.20986	0.625	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.22068	-1.0227	10	0.09338	T	0.73	.	6.2055	0.20600	0.0:0.15:0.1346:0.7154	.	364	Q96P65	QRFPR_HUMAN	S	364	ENSP00000377948:N364S	ENSP00000377948:N364S	N	-	2	0	QRFPR	122470124	0.749000	0.28305	0.000000	0.03702	0.183000	0.23260	1.076000	0.30729	-0.012000	0.14223	0.260000	0.18958	AAT		0.368	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		C	122250674	T	C	122250674	3	2	48	1	0	0	0	0	1	0	0	0	12884	1493	52	3	208	3	QRFPR	4	122250674	Missense_Mutation	SNP	T	TCGA-A3-3347-01A-02D-1386-10		122250674	68903602	11	3565											
PCDHGA1	56114	broad.mit.edu;ucsc.edu	37	5	140712672	140712672	+	Splice_Site	SNP	G	G	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr5:140712672G>C	ENST00000517417.1	+	1	2421	c.2421G>C	c.(2419-2421)caG>caC	p.Q807H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.Q807H	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	807					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTTCTCAGGTAAACTTTT	0.388																																																0													52	56	54					5																	140712672		2203	4300	6503	SO:0001630	splice_region_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2421+1G>C	5.37:g.140712672G>C			Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	11.82	1.751313	0.31046	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	D;T	0.95205	-3.64;0.76	4.15	4.15	0.48705	.	0.202382	0.23321	N	0.049452	D	0.96390	0.8822	M	0.86573	2.825	0.21950	N	0.999452	P;P	0.47910	0.836;0.902	P;P	0.52217	0.693;0.547	D	0.91965	0.5582	10	0.62326	D	0.03	.	15.7324	0.77817	0.0:0.0:1.0:0.0	.	807;807	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	H	807	ENSP00000431083:Q807H;ENSP00000367345:Q807H	ENSP00000367345:Q807H	Q	+	3	2	PCDHGA1	140692856	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	3.721000	0.54941	2.298000	0.77334	0.591000	0.81541	CAG		0.388	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	Missense_Mutation	C	140712672	G	C	140712672	5	2	48	1	0	0	0	0	0	0	1	0	11552	1014	35	4	2423	4	PCDHGA1	5	140712672	Splice_Site	SNP	G	TCGA-A3-3347-01A-02D-1386-10		140712672	40202588	12	3566											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56506875	56506875	+	Missense_Mutation	SNP	C	C	T	rs183335254		TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr6:56506875C>T	ENST00000361203.3	-	13	1271	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M	DST_ENST00000518935.1_Missense_Mutation_p.V96M|DST_ENST00000312431.6_Missense_Mutation_p.V422M|DST_ENST00000421834.2_Missense_Mutation_p.V422M|DST_ENST00000370754.5_Missense_Mutation_p.V600M|DST_ENST00000370765.6_Missense_Mutation_p.V96M|DST_ENST00000370788.2_Missense_Mutation_p.V422M|DST_ENST00000370769.4_Missense_Mutation_p.V422M|DST_ENST00000244364.6_Missense_Mutation_p.V96M|DST_ENST00000446842.2_Missense_Mutation_p.V96M			Q03001	DYST_HUMAN	dystonin	422					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAAACTGCACTCCTGATTCT	0.308																																																0													85	80	82					6																	56506875		2203	4299	6502	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1264G>A	6.37:g.56506875C>T	ENSP00000354508:p.Val422Met		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	16.43	3.122067	0.56613	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.3	-1.15	0.09709	.	0.621714	0.13019	N	0.420231	D	0.83234	0.5210	N	0.24115	0.695	0.26979	N	0.965402	P;B;P;B;P;P;B;P;B;P	0.51537	0.664;0.244;0.933;0.244;0.935;0.579;0.323;0.946;0.244;0.939	B;B;B;B;B;B;B;P;B;P	0.55222	0.08;0.157;0.362;0.157;0.311;0.071;0.182;0.771;0.157;0.632	T	0.75602	-0.3261	9	0.46703	T	0.11	.	7.1151	0.25412	0.1755:0.1939:0.5584:0.0722	.	451;422;422;600;538;96;96;96;422;96	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	M	96;600;422;422;96;422;422;422;96;462;96;96;600	ENSP00000244364:V96M;ENSP00000359790:V600M;ENSP00000359805:V422M;ENSP00000400883:V422M;ENSP00000393645:V96M;ENSP00000307959:V422M;ENSP00000359824:V422M;ENSP00000354508:V422M;ENSP00000404924:V96M;ENSP00000431030:V462M;ENSP00000359801:V96M;ENSP00000431003:V96M;ENSP00000393082:V600M	ENSP00000244364:V96M	V	-	1	0	DST	56614834	0.943000	0.32029	0.413000	0.26509	0.989000	0.77384	1.599000	0.36751	0.055000	0.16094	0.585000	0.79938	GTG		0.308	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56506875	C	T	56506875	3	4	48	1	0	0	0	0	1	0	0	0	4785	565	20	2	20197	2	DST	6	56506875	Missense_Mutation	SNP	C	TCGA-A3-3347-01A-02D-1386-10		56506875	114608192	13	3567											
GIMAP8	155038	hgsc.bcm.edu;ucsc.edu	37	7	150174278	150174278	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr7:150174278G>A	ENST00000307271.3	+	5	1982	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	470	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCGGCTCCGGGCCCAGCCAGT	0.597																																																0													69	68	68					7																	150174278		2203	4300	6503	SO:0001583	missense	155038			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1408G>A	7.37:g.150174278G>A	ENSP00000305107:p.Ala470Thr			Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285170	0.59867	.	.	ENSG00000171115	ENST00000307271	T	0.28454	1.61	4.44	2.53	0.30540	AIG1 (1);	0.315980	0.22940	N	0.053793	T	0.35189	0.0923	L	0.27944	0.81	0.09310	N	1	D	0.69078	0.997	D	0.63113	0.911	T	0.12192	-1.0557	10	0.38643	T	0.18	.	10.4279	0.44389	0.0:0.387:0.613:0.0	.	470	Q8ND71	GIMA8_HUMAN	T	470	ENSP00000305107:A470T	ENSP00000305107:A470T	A	+	1	0	GIMAP8	149805211	0.000000	0.05858	0.017000	0.16124	0.016000	0.09150	-0.541000	0.06099	0.459000	0.27016	0.655000	0.94253	GCC		0.597	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		A	150174278	G	A	150174278	3	1	48	1	0	0	0	0	1	0	0	0	6387	1203	42	2	1422	2	GIMAP8	7	150174278	Missense_Mutation	SNP	G	TCGA-A3-3347-01A-02D-1386-10		150174278	8964385	14	3568											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113392679	113392679	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr8:113392679G>A	ENST00000297405.5	-	38	6282	c.6038C>T	c.(6037-6039)aCa>aTa	p.T2013I	CSMD3_ENST00000455883.2_Missense_Mutation_p.T1909I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1943I|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1973I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2013	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1973K(1)|p.T2013K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGGGGTATTGTTGTTCCTGA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - Missense(2)	lung(2)											100	105	103					8																	113392679		2203	4295	6498	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6038C>T	8.37:g.113392679G>A	ENSP00000297405:p.Thr2013Ile		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720984	0.89205	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.64	5.64	0.86602	CUB (5);	0.000000	0.64402	D	0.000001	T	0.33089	0.0851	L	0.35854	1.095	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.98;1.0	D;D;D	0.97110	0.999;0.983;1.0	T	0.01330	-1.1383	10	0.21540	T	0.41	.	19.2842	0.94065	0.0:0.0:1.0:0.0	.	1909;2013;1973	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	1973;2013;1283;1909;1943	ENSP00000345799:T1973I;ENSP00000297405:T2013I;ENSP00000341558:T1283I;ENSP00000412263:T1909I;ENSP00000343124:T1943I	ENSP00000297405:T2013I	T	-	2	0	CSMD3	113461855	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.553000	0.98118	2.654000	0.90174	0.591000	0.81541	ACA		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113392679	G	A	113392679	3	1	48	1	0	0	0	0	1	0	0	0	3948	1377	48	2	5221	2	CSMD3	8	113392679	Missense_Mutation	SNP	G	TCGA-A3-3347-01A-02D-1386-10		113392679	32971343	15	3569											
FAM83H	286077	broad.mit.edu	37	8	144810219	144810219	+	Missense_Mutation	SNP	C	C	T	rs369438416		TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr8:144810219C>T	ENST00000388913.3	-	5	1537	c.1412G>A	c.(1411-1413)gGc>gAc	p.G471D		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	471					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCGAACAGGCCTTGCGGGCG	0.716																																																0								C	ASP/GLY	0,4042		0,0,2021	23	33	30		1412	4.9	1	8		30	1,8299		0,1,4149	no	missense	FAM83H	NM_198488.3	94	0,1,6170	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	471/1180	144810219	1,12341	2021	4150	6171	SO:0001583	missense	286077			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1412G>A	8.37:g.144810219C>T	ENSP00000373565:p.Gly471Asp		A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	N	16.91	3.251475	0.59212	0.0	1.2E-4	ENSG00000180921	ENST00000388913	T	0.24538	1.85	4.87	4.87	0.63330	.	0.220519	0.30003	U	0.010653	T	0.41858	0.1177	L	0.34521	1.04	0.44168	D	0.996973	D	0.89917	1.0	D	0.91635	0.999	T	0.37842	-0.9688	10	0.72032	D	0.01	.	16.9983	0.86375	0.0:1.0:0.0:0.0	.	471	Q6ZRV2	FA83H_HUMAN	D	471	ENSP00000373565:G471D	ENSP00000373565:G471D	G	-	2	0	FAM83H	144882207	0.992000	0.36948	1.000000	0.80357	0.529000	0.34654	2.847000	0.48270	2.234000	0.73211	0.555000	0.69702	GGC		0.716	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		T	144810219	C	T	144810219	3	4	48	1	0	0	0	0	1	0	0	0	5642	739	26	2	2131	2	FAM83H	8	144810219	Missense_Mutation	SNP	C	TCGA-A3-3347-01A-02D-1386-10	31417540	144810219	1553803	16	3570											
TLL2	7093	broad.mit.edu;ucsc.edu	37	10	98133425	98133425	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr10:98133425T>G	ENST00000357947.3	-	19	2815	c.2590A>C	c.(2590-2592)Agc>Cgc	p.S864R		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	864	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AACATACTGCTGCCGGAAGCC	0.587																																																0													67	69	68					10																	98133425		2203	4300	6503	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2590A>C	10.37:g.98133425T>G	ENSP00000350630:p.Ser864Arg		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671067	0.88348	.	.	ENSG00000095587	ENST00000357947	T	0.36157	1.27	4.85	4.85	0.62838	CUB (5);	0.127829	0.35870	N	0.002927	T	0.37019	0.0988	L	0.31845	0.965	0.46631	D	0.999134	P	0.40970	0.734	P	0.46208	0.507	T	0.30060	-0.9991	10	0.87932	D	0	.	14.0598	0.64793	0.0:0.0:0.0:1.0	.	864	Q9Y6L7	TLL2_HUMAN	R	864	ENSP00000350630:S864R	ENSP00000350630:S864R	S	-	1	0	TLL2	98123415	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.825000	0.86693	2.163000	0.67991	0.459000	0.35465	AGC		0.587	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			G	98133425	T	G	98133425	3	3	48	1	0	0	0	0	1	0	0	0	15951	1580	55	5	469	5	TLL2	10	98133425	Missense_Mutation	SNP	T	TCGA-A3-3347-01A-02D-1386-10		98133425	37401322	17	3571											
ABCC2	1244	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	101552068	101552068	+	Silent	SNP	A	A	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr10:101552068A>G	ENST00000370449.4	+	3	398	c.285A>G	c.(283-285)acA>acG	p.T95T	ABCC2_ENST00000370434.1_Silent_p.T95T|ABCC2_ENST00000496621.1_3'UTR	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	95					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GACAAGCCACAGTCCCTGCTG	0.468																																																0													142	121	128					10																	101552068		2203	4300	6503	SO:0001819	synonymous_variant	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.285A>G	10.37:g.101552068A>G			B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	CCDS7484.1																																																																																				0.468	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		G	101552068	A	G	101552068	2	3	48	1	0	0	0	0	0	0	0	1	53	175	7	3		3	ABCC2	10	101552068	Silent	SNP	A	TCGA-A3-3347-01A-02D-1386-10	3418643	101552068	33982679	18	3572											
TRIM21	6737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4411235	4411235	+	Silent	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr11:4411235G>A	ENST00000254436.7	-	2	517	c.405C>T	c.(403-405)taC>taT	p.Y135Y	TRIM21_ENST00000543625.1_Silent_p.Y135Y	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	135					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GCCTCACCTGGTACTCCTGTG	0.562																																																0													41	42	42					11																	4411235		1982	4174	6156	SO:0001819	synonymous_variant	6737			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.405C>T	11.37:g.4411235G>A			Q5XPV5|Q96RF8	Silent	SNP	ENST00000254436.7	37	CCDS44525.1																																																																																				0.562	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		A	4411235	G	A	4411235	2	1	48	1	0	0	0	0	0	0	0	1	16500	1256	44	2		2	TRIM21	11	4411235	Silent	SNP	G	TCGA-A3-3347-01A-02D-1386-10		4411235	130595281	19	3573											
OR51B4	79339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5322438	5322438	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr11:5322438C>G	ENST00000380224.1	-	1	788	c.739G>C	c.(739-741)Gta>Cta	p.V247L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	247					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(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGAAATACTAGGACACAG	0.428																																																0													98	89	92					11																	5322438		2201	4297	6498	SO:0001583	missense	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.739G>C	11.37:g.5322438C>G	ENSP00000369573:p.Val247Leu		A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090866	0.20471	.	.	ENSG00000183251	ENST00000380224	T	0.00017	9.1	4.25	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000677	T	0.00109	0.0003	N	0.21373	0.66	0.21184	N	0.999769	P	0.50272	0.933	P	0.53102	0.718	T	0.55121	-0.8190	10	0.22109	T	0.4	.	5.2699	0.15618	0.2043:0.6921:0.0:0.1036	.	247	Q9Y5P0	O51B4_HUMAN	L	247	ENSP00000369573:V247L	ENSP00000369573:V247L	V	-	1	0	OR51B4	5279014	0.000000	0.05858	0.977000	0.42913	0.811000	0.45836	-1.611000	0.02062	2.197000	0.70478	0.655000	0.94253	GTA		0.428	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		G	5322438	C	G	5322438	3	3	48	1	0	0	0	0	1	0	0	0	11092	565	20	4	196	4	OR51B4	11	5322438	Missense_Mutation	SNP	C	TCGA-A3-3347-01A-02D-1386-10	911203	5322438	129684078	20	3574											
CCDC88B	283234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64111336	64111336	+	Silent	SNP	C	C	A	rs537311308		TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr11:64111336C>A	ENST00000356786.5	+	13	1449	c.1405C>A	c.(1405-1407)Cgg>Agg	p.R469R	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	469						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGGGAGAACCGGGAGCTTCG	0.687																																																0													24	31	29					11																	64111336		2193	4289	6482	SO:0001819	synonymous_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1405C>A	11.37:g.64111336C>A			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	CCDS8072.2																																																																																				0.687	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		A	64111336	C	A	64111336	2	1	48	1	0	0	0	0	0	0	0	1	2866	643	23	4		4	CCDC88B	11	64111336	Silent	SNP	C	TCGA-A3-3347-01A-02D-1386-10	58788898	64111336	70895180	21	3575											
OR2AT4	341152	broad.mit.edu;ucsc.edu	37	11	74800063	74800063	+	Silent	SNP	G	G	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr11:74800063G>C	ENST00000305159.3	-	1	736	c.696C>G	c.(694-696)cgC>cgG	p.R232R		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGGAACTGATGCGAAGCACTG	0.577																																																0													48	46	47					11																	74800063		2200	4293	6493	SO:0001819	synonymous_variant	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.696C>G	11.37:g.74800063G>C			B9EGZ8	Silent	SNP	ENST00000305159.3	37	CCDS31639.1																																																																																				0.577	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		C	74800063	G	C	74800063	2	2	48	1	0	0	0	0	0	0	0	1	10989	1306	46	4		4	OR2AT4	11	74800063	Silent	SNP	G	TCGA-A3-3347-01A-02D-1386-10	10688727	74800063	60206453	22	3576											
DSCAML1	57453	broad.mit.edu	37	11	117299207	117299208	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr11:117299207_117299208delCT	ENST00000321322.6	-	33	6179_6180	c.6178_6179delAG	c.(6178-6180)agcfs	p.S2060fs	DSCAML1_ENST00000527706.1_Frame_Shift_Del_p.S1790fs	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2000					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGGGCAGCGCTGGGGGCGGTG	0.728																																																0										9,3049		4,1,1524						-7.9	0			6	18,6762		7,4,3379	no	frameshift	DSCAML1	NM_020693.2		11,5,4903	A1A1,A1R,RR		0.2655,0.2943,0.2744				27,9811				SO:0001589	frameshift_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.6178_6179delAG	11.37:g.117299207_117299208delCT	ENSP00000315465:p.Ser2060fs		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Frame_Shift_Del	DEL	ENST00000321322.6	37	CCDS8384.1																																																																																				0.728	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		-	117299208	CT	-	117299207	7	5	48	1	0	1	0	1	0	0	0	0	4771	797	28	0	166	0	DSCAML1	11	117299207	Frame_Shift_Del	DEL	CT	TCGA-A3-3347-01A-02D-1386-10	42499144	117299207	17707309	23	3577											
PCNX	22990	broad.mit.edu;ucsc.edu	37	14	71462632	71462632	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr14:71462632C>G	ENST00000304743.2	+	8	3065	c.2619C>G	c.(2617-2619)caC>caG	p.H873Q	PCNX_ENST00000238570.5_Missense_Mutation_p.H873Q|PCNX_ENST00000439984.3_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	873						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCAGTTTGCACGATGAACTTG	0.433																																																0													122	101	108					14																	71462632		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2619C>G	14.37:g.71462632C>G	ENSP00000304192:p.His873Gln		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576048	0.28092	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	T;T	0.21734	1.99;1.99	5.4	-1.23	0.09465	.	0.098488	0.64402	N	0.000001	T	0.06142	0.0159	N	0.03324	-0.35	0.40762	D	0.98301	B	0.02656	0.0	B	0.04013	0.001	T	0.27331	-1.0077	10	0.25751	T	0.34	.	2.7295	0.05223	0.216:0.4772:0.1056:0.2013	.	873	Q96RV3	PCX1_HUMAN	Q	873	ENSP00000304192:H873Q;ENSP00000238570:H873Q	ENSP00000238570:H873Q	H	+	3	2	PCNX	70532385	0.974000	0.33945	0.996000	0.52242	0.994000	0.84299	0.107000	0.15375	-0.107000	0.12088	-0.150000	0.13652	CAC		0.433	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		G	71462632	C	G	71462632	3	3	48	1	0	0	0	0	1	0	0	0	11593	535	19	4	2649	4	PCNX	14	71462632	Missense_Mutation	SNP	C	TCGA-A3-3347-01A-02D-1386-10		71462632	35886908	24	3578											
PAFAH1B1	5048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	2570313	2570313	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr17:2570313G>A	ENST00000397195.5	+	5	671	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AAAGCTAAATGAAGCAAAAGA	0.368																																																0													56	55	55					17																	2570313		2203	4300	6503	SO:0001583	missense	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.220G>A	17.37:g.2570313G>A	ENSP00000380378:p.Glu74Lys			Missense_Mutation	SNP	ENST00000397195.5	37	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965139	0.74131	.	.	ENSG00000007168	ENST00000397195	D	0.82893	-1.66	4.87	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.80899	0.4712	M	0.79805	2.47	0.80722	D	1	P	0.38420	0.63	B	0.36186	0.219	T	0.77308	-0.2636	10	0.14252	T	0.57	.	12.4831	0.55856	0.0821:0.0:0.9179:0.0	.	74	P43034	LIS1_HUMAN	K	74	ENSP00000380378:E74K	ENSP00000380378:E74K	E	+	1	0	PAFAH1B1	2517063	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.775000	0.98995	1.174000	0.42811	-0.237000	0.12165	GAA		0.368	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		A	2570313	G	A	2570313	3	1	48	1	0	0	0	0	1	0	0	0	11386	1291	45	2	234	2	PAFAH1B1	17	2570313	Missense_Mutation	SNP	G	TCGA-A3-3347-01A-02D-1386-10		2570313	78624897	25	3579											
DERL2	51009	hgsc.bcm.edu;ucsc.edu	37	17	5383897	5383897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr17:5383897delA	ENST00000158771.4	-	5	388	c.333delT	c.(331-333)tttfs	p.F111fs	DERL2_ENST00000572834.1_Intron|DERL2_ENST00000570848.1_Intron|DERL2_ENST00000571968.1_5'Flank	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	111					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						CAAACAGACCAAAAAGCTAGC	0.403																																																0													76	83	80					17																	5383897		2203	4300	6503	SO:0001589	frameshift_variant	51009			BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"Der1-like domain family, member 2"			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.333delT	17.37:g.5383897delA	ENSP00000158771:p.Phe111fs		Q9Y3A7	Frame_Shift_Del	DEL	ENST00000158771.4	37	CCDS11073.1																																																																																				0.403	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1	NM_016041		-	5383897	A	-	5383897	7	5	48	1	0	1	0	1	0	0	0	0	4449	127	5	0	398	0	DERL2	17	5383897	Frame_Shift_Del	DEL	A	TCGA-A3-3347-01A-02D-1386-10	2813584	5383897	75811313	26	3580											
MED24	9862	broad.mit.edu;ucsc.edu	37	17	38182523	38182523	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr17:38182523A>C	ENST00000394128.2	-	19	1952	c.1871T>G	c.(1870-1872)cTt>cGt	p.L624R	MED24_ENST00000394126.1_Missense_Mutation_p.L649R|MED24_ENST00000356271.3_Missense_Mutation_p.L611R|MED24_ENST00000394127.2_Missense_Mutation_p.L611R|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000501516.3_Missense_Mutation_p.L643R	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	624					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GTGGGCCACAAGCCAAGCCAC	0.562																																																0													163	145	151					17																	38182523		2203	4300	6503	SO:0001583	missense	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1871T>G	17.37:g.38182523A>C	ENSP00000377686:p.Leu624Arg		A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.185272	0.38609	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000501516;ENST00000431269	T;T;T	0.63417	-0.04;-0.04;-0.04	4.79	3.72	0.42706	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70988	0.3287	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.61080	0.989;0.989;0.971;0.977;0.989	P;P;P;P;P	0.62298	0.893;0.893;0.839;0.9;0.893	T	0.72320	-0.4329	10	0.87932	D	0	-11.0921	10.3932	0.44185	0.9229:0.0:0.0771:0.0	.	574;534;611;624;566	F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;MED24_HUMAN;.	R	624;624;624;574;611;566;95;534	ENSP00000377686:L624R;ENSP00000443344:L574R;ENSP00000377685:L611R	ENSP00000348610:L624R	L	-	2	0	MED24	35436049	1.000000	0.71417	0.812000	0.32479	0.996000	0.88848	9.131000	0.94446	0.859000	0.35456	0.533000	0.62120	CTT		0.562	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		C	38182523	A	C	38182523	3	2	48	1	0	0	0	0	1	0	0	0	9444	72	3	5	1130	5	MED24	17	38182523	Missense_Mutation	SNP	A	TCGA-A3-3347-01A-02D-1386-10	32798626	38182523	43012687	27	3581											
STAT5B	6777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40371847	40371847	+	Silent	SNP	C	C	T			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr17:40371847C>T	ENST00000293328.3	-	6	732	c.564G>A	c.(562-564)ccG>ccA	p.P188P		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	188					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCTGGGCCAGCGGGCCAAACT	0.642																																																0													39	42	41					17																	40371847		2203	4300	6503	SO:0001819	synonymous_variant	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.564G>A	17.37:g.40371847C>T			Q8WWS8	Silent	SNP	ENST00000293328.3	37	CCDS11423.1																																																																																				0.642	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		T	40371847	C	T	40371847	2	4	48	1	0	0	0	0	0	0	0	1	15274	755	27	1		1	STAT5B	17	40371847	Silent	SNP	C	TCGA-A3-3347-01A-02D-1386-10	2189324	40371847	40823363	28	3582											
ST6GALNAC1	55808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74622132	74622132	+	Silent	SNP	C	C	T			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr17:74622132C>T	ENST00000156626.7	-	7	1660	c.1461G>A	c.(1459-1461)agG>agA	p.R487R	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	487					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCAACAGGTACCTGTCCATGT	0.557																																																0													177	172	174					17																	74622132		2203	4300	6503	SO:0001819	synonymous_variant	55808			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1461G>A	17.37:g.74622132C>T			Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406824	0.25378	.	.	ENSG00000070526	ENST00000359088	T	0.23348	1.91	5.28	-10.6	0.00265	.	.	.	.	.	T	0.12987	0.0315	.	.	.	0.41003	D	0.984946	.	.	.	.	.	.	T	0.33727	-0.9857	6	0.09843	T	0.71	-10.8981	10.3201	0.43760	0.0707:0.6518:0.0709:0.2066	.	.	.	.	I	453	ENSP00000351991:V453I	ENSP00000351991:V453I	V	-	1	0	ST6GALNAC1	72133727	0.000000	0.05858	0.003000	0.11579	0.863000	0.49368	-2.280000	0.01158	-3.219000	0.00212	-0.290000	0.09829	GTA		0.557	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		T	74622132	C	T	74622132	2	4	48	1	0	0	0	0	0	0	0	1	15228	506	18	2		2	ST6GALNAC1	17	74622132	Silent	SNP	C	TCGA-A3-3347-01A-02D-1386-10	34250285	74622132	6573078	29	3583											
SF3A2	8175	broad.mit.edu	37	19	2245452	2245452	+	Silent	SNP	C	C	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr19:2245452C>A	ENST00000221494.5	+	5	671	c.253C>A	c.(253-255)Cga>Aga	p.R85R		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	85					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCCCGGCGAGCAGCCAA	0.667																																																0													20	26	24					19																	2245452		1695	3131	4826	SO:0001819	synonymous_variant	8175			L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.253C>A	19.37:g.2245452C>A			B2RBU1|D6W605|O75245	Silent	SNP	ENST00000221494.5	37	CCDS12084.1																																																																																				0.667	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			A	2245452	C	A	2245452	2	1	48	1	0	0	0	0	0	0	0	1	14153	760	27	4		4	SF3A2	19	2245452	Silent	SNP	C	TCGA-A3-3347-01A-02D-1386-10		2245452	56883531	30	3584											
CHAF1A	10036	broad.mit.edu;ucsc.edu	37	19	4433326	4433326	+	Silent	SNP	C	C	T			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr19:4433326C>T	ENST00000301280.5	+	13	2564	c.2463C>T	c.(2461-2463)caC>caT	p.H821H	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	821	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACGTGCACCCGCAGGTGC	0.612								Chromatin Structure																																								0													80	77	78					19																	4433326		2203	4300	6503	SO:0001819	synonymous_variant	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2463C>T	19.37:g.4433326C>T			Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	CCDS32875.1																																																																																				0.612	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		T	4433326	C	T	4433326	2	4	48	1	0	0	0	0	0	0	0	1	3313	506	18	2		2	CHAF1A	19	4433326	Silent	SNP	C	TCGA-A3-3347-01A-02D-1386-10	2187874	4433326	54695657	31	3585											
GRIK5	2901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42507514	42507514	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr19:42507514C>A	ENST00000262895.3	-	18	2483	c.2484G>T	c.(2482-2484)tgG>tgT	p.W828C	GRIK5_ENST00000301218.4_Missense_Mutation_p.W828C|GRIK5_ENST00000593562.1_Missense_Mutation_p.W828C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	828					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TCCGTGTGGACCATATGAATT	0.587																																																0													82	71	75					19																	42507514		2203	4300	6503	SO:0001583	missense	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2484G>T	19.37:g.42507514C>A	ENSP00000262895:p.Trp828Cys		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.32|19.32	3.805131|3.805131	0.70682|0.70682	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000454993|ENST00000262895;ENST00000301218	.|T;T	.|0.15372	.|2.44;2.43	4.16|4.16	4.16|4.16	0.48862|0.48862	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.39306|0.39306	0.1073|0.1073	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.32561|0.32561	-0.9902|-0.9902	5|10	.|0.87932	.|D	.|0	.|.	15.3734|15.3734	0.74584|0.74584	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|828	.|Q16478	.|GRIK5_HUMAN	F|C	205|828	.|ENSP00000262895:W828C;ENSP00000301218:W828C	.|ENSP00000262895:W828C	V|W	-|-	1|3	0|0	GRIK5|GRIK5	47199354|47199354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.309000|4.309000	0.59135|0.59135	2.136000|2.136000	0.66102|0.66102	0.561000|0.561000	0.74099|0.74099	GTC|TGG		0.587	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			A	42507514	C	A	42507514	3	1	48	1	0	0	0	0	1	0	0	0	6779	508	18	4	466	4	GRIK5	19	42507514	Missense_Mutation	SNP	C	TCGA-A3-3347-01A-02D-1386-10	38074188	42507514	16621469	32	3586											
CARD10	29775	broad.mit.edu;ucsc.edu	37	22	37893039	37893039	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr22:37893039A>G	ENST00000403299.1	-	13	2150	c.1934T>C	c.(1933-1935)aTg>aCg	p.M645T	CARD10_ENST00000251973.5_Missense_Mutation_p.M645T|CARD10_ENST00000406271.3_Missense_Mutation_p.M359T			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	645					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TCTTGGTTCCATCCTGGCGGA	0.607																																																0													117	122	120					22																	37893039		2203	4300	6503	SO:0001583	missense	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1934T>C	22.37:g.37893039A>G	ENSP00000384570:p.Met645Thr		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	A	1.919	-0.448825	0.04572	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.38722	1.12;2.82;1.12;1.6	5.32	-6.51	0.01878	.	1.036440	0.07513	N	0.909282	T	0.23611	0.0571	L	0.28115	0.83	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.26052	-1.0114	10	0.33141	T	0.24	0.6691	6.7548	0.23507	0.1581:0.3049:0.537:0.0	.	645;359	Q9BWT7;Q8NC81	CAR10_HUMAN;.	T	645;359;645;286;117	ENSP00000384570:M645T;ENSP00000385799:M359T;ENSP00000251973:M645T;ENSP00000416239:M286T	ENSP00000251973:M645T	M	-	2	0	CARD10	36222985	0.001000	0.12720	0.000000	0.03702	0.495000	0.33615	-0.142000	0.10311	-0.767000	0.04633	-0.256000	0.11100	ATG		0.607	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		G	37893039	A	G	37893039	3	3	48	1	0	0	0	0	1	0	0	0	2646	217	8	3	1200	3	CARD10	22	37893039	Missense_Mutation	SNP	A	TCGA-A3-3347-01A-02D-1386-10		37893039	13411527	33	3587											
PLA2G6	8398	broad.mit.edu	37	22	38516843	38516843	+	Silent	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr22:38516843G>A	ENST00000332509.3	-	12	1848	c.1665C>T	c.(1663-1665)taC>taT	p.Y555Y	PLA2G6_ENST00000490473.1_5'Flank|PLA2G6_ENST00000335539.3_Silent_p.Y501Y|PLA2G6_ENST00000402064.1_Silent_p.Y501Y	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	555	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GCCCCGACTCGTAGGGCCTGG	0.617																																																0													83	85	85					22																	38516843		2203	4300	6503	SO:0001819	synonymous_variant	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1665C>T	22.37:g.38516843G>A			A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	ENST00000332509.3	37	CCDS13967.1																																																																																				0.617	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		A	38516843	G	A	38516843	2	1	48	1	0	0	0	0	0	0	0	1	12010	1140	40	1		1	PLA2G6	22	38516843	Silent	SNP	G	TCGA-A3-3347-01A-02D-1386-10	623804	38516843	12787723	34	3588											
MAGED1	9500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	51638670	51638670	+	Silent	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chrX:51638670G>A	ENST00000375722.1	+	3	819	c.567G>A	c.(565-567)aaG>aaA	p.K189K	MAGED1_ENST00000375695.2_Silent_p.K245K|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.K189K|MAGED1_ENST00000375772.3_Silent_p.K189K			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	189					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					ATACCACTAAGGCCCCAACAG	0.517										Multiple Myeloma(10;0.10)																																						0													62	52	55					X																	51638670		2203	4300	6503	SO:0001819	synonymous_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.567G>A	X.37:g.51638670G>A			Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	CCDS14337.1																																																																																				0.517	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		A	51638670	G	A	51638670	2	1	48	1	0	0	0	0	0	0	0	1	9185	991	35	2		2	MAGED1	23	51638670	Silent	SNP	G	TCGA-A3-3347-01A-02D-1386-10		51638670	103631890	35	3589											
KLF8	11279	broad.mit.edu;hgsc.bcm.edu	37	X	56295819	56295819	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chrX:56295819G>C	ENST00000468660.1	+	4	943	c.655G>C	c.(655-657)Gac>Cac	p.D219H	KLF8_ENST00000374928.3_Missense_Mutation_p.D219H	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AGTGAAAGTTGACCCCACCTC	0.463																																																0													107	82	91					X																	56295819		2203	4300	6503	SO:0001583	missense	11279			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.655G>C	X.37:g.56295819G>C	ENSP00000417303:p.Asp219His		B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181064	0.78677	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T	0.07021	3.23	4.65	4.65	0.58169	.	0.529703	0.19265	N	0.118570	T	0.20780	0.0500	M	0.65975	2.015	0.37213	D	0.904905	D;D	0.57571	0.98;0.957	P;P	0.55999	0.789;0.579	T	0.04870	-1.0921	10	0.72032	D	0.01	.	12.3552	0.55171	0.0:0.0:1.0:0.0	.	219;219	E7EQQ8;O95600	.;KLF8_HUMAN	H	219	ENSP00000417303:D219H	ENSP00000364063:D219H	D	+	1	0	KLF8	56312544	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	4.104000	0.57790	2.054000	0.61138	0.600000	0.82982	GAC		0.463	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		C	56295819	G	C	56295819	3	2	48	1	0	0	0	0	1	0	0	0	8354	1290	45	4	669	4	KLF8	23	56295819	Missense_Mutation	SNP	G	TCGA-A3-3347-01A-02D-1386-10	4657149	56295819	98974741	36	3590											
CYP4B1	1580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	47279221	47279221	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr1:47279221C>T	ENST00000271153.4	+	5	599	c.563C>T	c.(562-564)gCg>gTg	p.A188V	CYP4B1_ENST00000371923.4_Missense_Mutation_p.A188V|CYP4B1_ENST00000371919.4_Missense_Mutation_p.A173V|CYP4B1_ENST00000452782.2_Missense_Mutation_p.A25V			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	188					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.A188V(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GGTCACATGGCGCTGAACACA	0.572																																																1	Substitution - Missense(1)	kidney(1)											111	107	108					1																	47279221		2203	4300	6503	SO:0001583	missense	1580			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.563C>T	1.37:g.47279221C>T	ENSP00000271153:p.Ala188Val		Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753981	0.31046	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000526297;ENST00000452782;ENST00000468637	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.21	3.35	0.38373	.	0.107189	0.64402	N	0.000004	T	0.65995	0.2745	M	0.71581	2.175	0.34116	D	0.663558	B;B;B;B	0.27559	0.181;0.1;0.043;0.112	B;B;B;B	0.31101	0.016;0.098;0.052;0.124	T	0.72877	-0.4159	10	0.87932	D	0	.	11.9378	0.52884	0.0:0.8575:0.0:0.1425	.	25;173;188;188	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	V	188;188;173;25;25;25	ENSP00000360991:A188V;ENSP00000271153:A188V;ENSP00000360987:A173V;ENSP00000438995:A25V;ENSP00000400413:A25V;ENSP00000437670:A25V	ENSP00000271153:A188V	A	+	2	0	CYP4B1	47051808	0.998000	0.40836	0.584000	0.28653	0.003000	0.03518	3.805000	0.55575	0.610000	0.30035	-0.967000	0.02615	GCG		0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		T	47279221	C	T	47279221	3	4	49	1	0	0	0	0	1	0	0	0	4187	768	27	1	581	1	CYP4B1	1	47279221	Missense_Mutation	SNP	C	TCGA-A3-3349-01A-01D-1251-10		47279221	201971400	1	3591											
DDAH1	23576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	85817252	85817252	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr1:85817252A>C	ENST00000284031.8	-	3	508	c.414T>G	c.(412-414)ttT>ttG	p.F138L	DDAH1_ENST00000426972.3_Missense_Mutation_p.F45L|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000542148.1_Missense_Mutation_p.F38L|DDAH1_ENST00000539042.1_Missense_Mutation_p.F138L|DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.F35L	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	138					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)	p.F138L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	GGCCCACAAAAAATTCTCTGC	0.388																																																1	Substitution - Missense(1)	kidney(1)											106	102	103					1																	85817252		2203	4300	6503	SO:0001583	missense	23576			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.414T>G	1.37:g.85817252A>C	ENSP00000284031:p.Phe138Leu		Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	37	CCDS705.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.875336	0.91664	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.41	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.61703	1.905	0.80722	D	1	D;P	0.69078	0.997;0.639	D;B	0.65140	0.932;0.348	T	0.55988	-0.8053	9	0.14656	T	0.56	-11.8157	5.3862	0.16220	0.7553:0.0:0.2447:0.0	.	38;138	B4DYP1;O94760	.;DDAH1_HUMAN	L	138;138;35;45;38	.	ENSP00000284031:F138L	F	-	3	2	DDAH1	85589840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.465000	0.45075	2.049000	0.60858	0.533000	0.62120	TTT		0.388	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1			C	85817252	A	C	85817252	3	2	49	1	0	0	0	0	1	0	0	0	4323	11	1	5	459	5	DDAH1	1	85817252	Missense_Mutation	SNP	A	TCGA-A3-3349-01A-01D-1251-10	38538031	85817252	163433369	2	3592											
AGL	178	broad.mit.edu;ucsc.edu	37	1	100368332	100368332	+	Missense_Mutation	SNP	C	C	G	rs113994131		TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr1:100368332C>G	ENST00000294724.4	+	27	4160	c.3682C>G	c.(3682-3684)Cga>Gga	p.R1228G	AGL_ENST00000361522.4_Missense_Mutation_p.R1211G|AGL_ENST00000361915.3_Missense_Mutation_p.R1228G|AGL_ENST00000370165.3_Missense_Mutation_p.R1228G|AGL_ENST00000370163.3_Missense_Mutation_p.R1228G|AGL_ENST00000361302.3_Missense_Mutation_p.R1212G|AGL_ENST00000370161.2_Missense_Mutation_p.R1212G	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1228					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.R1228G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCAGATAGATCGAAACATGAA	0.373																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM960018	AGL	M	rs113994131						96	89	92					1																	100368332		2203	4300	6503	SO:0001583	missense	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3682C>G	1.37:g.100368332C>G	ENSP00000294724:p.Arg1228Gly		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	8.270	0.813191	0.16537	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	6.14	4.1	0.47936	Six-hairpin glycosidase-like (1);	0.238346	0.39341	N	0.001397	T	0.58963	0.2159	L	0.55743	1.74	0.28388	N	0.919239	B;B;B	0.30634	0.288;0.288;0.181	B;B;B	0.36766	0.222;0.222;0.232	T	0.55952	-0.8059	10	0.27785	T	0.31	-22.643	15.7829	0.78275	0.3373:0.6627:0.0:0.0	.	1211;1212;1228	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	G	1228;1228;1228;1228;1212;1212;1211	ENSP00000355106:R1228G;ENSP00000359184:R1228G;ENSP00000359182:R1228G;ENSP00000294724:R1228G;ENSP00000354971:R1212G;ENSP00000359180:R1212G;ENSP00000354635:R1211G	ENSP00000294724:R1228G	R	+	1	2	AGL	100140920	0.990000	0.36364	0.980000	0.43619	0.232000	0.25224	2.363000	0.44178	1.598000	0.50083	0.637000	0.83480	CGA		0.373	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		G	100368332	C	G	100368332	3	3	49	1	0	0	0	0	1	0	0	0	384	876	31	4	3853	4	AGL	1	100368332	Missense_Mutation	SNP	C	TCGA-A3-3349-01A-01D-1251-10	14551080	100368332	148882289	3	3593											
DCAF6	55827	broad.mit.edu;ucsc.edu	37	1	168034953	168034953	+	Silent	SNP	A	A	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr1:168034953A>T	ENST00000312263.6	+	16	2496	c.2292A>T	c.(2290-2292)gtA>gtT	p.V764V	DCAF6_ENST00000367840.3_Silent_p.V855V|DCAF6_ENST00000432587.2_Silent_p.V824V|DCAF6_ENST00000367843.3_Silent_p.V784V	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	764					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.V784V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						ATCATGTGGTAAACTGCCTGC	0.418																																																1	Substitution - coding silent(1)	kidney(1)											77	73	74					1																	168034953		2203	4300	6503	SO:0001819	synonymous_variant	55827			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2292A>T	1.37:g.168034953A>T			A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	CCDS30933.1																																																																																				0.418	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		T	168034953	A	T	168034953	2	4	49	1	0	0	0	0	0	0	0	1	4276	349	13	5		5	DCAF6	1	168034953	Silent	SNP	A	TCGA-A3-3349-01A-01D-1251-10	67666621	168034953	81215668	4	3594											
THADA	63892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43801938	43801938	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr2:43801938G>C	ENST00000405006.4	-	11	1617	c.1266C>G	c.(1264-1266)caC>caG	p.H422Q	THADA_ENST00000404790.1_Missense_Mutation_p.H422Q|THADA_ENST00000405975.2_Missense_Mutation_p.H422Q|THADA_ENST00000330266.7_Missense_Mutation_p.H132Q|THADA_ENST00000402360.2_Missense_Mutation_p.H422Q|THADA_ENST00000403856.1_Missense_Mutation_p.H422Q|THADA_ENST00000415080.2_Missense_Mutation_p.H132Q	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	422								p.H422Q(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGTGAGCCGGTGCATTTGGA	0.418																																																1	Substitution - Missense(1)	kidney(1)											154	146	149					2																	43801938		1890	4125	6015	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1266C>G	2.37:g.43801938G>C	ENSP00000385995:p.His422Gln		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061636	0.55432	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.64618	1.43;1.43;1.43;1.43;-0.11;-0.11;1.43	5.84	1.96	0.26148	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.68593	2.085	0.32332	N	0.560951	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.997	T	0.76979	-0.2758	10	0.87932	D	0	-4.718	9.5161	0.39106	0.4164:0.0:0.5836:0.0	.	422;422;422;132;422	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	Q	132;422;422;132;422;422;422;422	ENSP00000331105:H132Q;ENSP00000386088:H422Q;ENSP00000416048:H132Q;ENSP00000385995:H422Q;ENSP00000385441:H422Q;ENSP00000384266:H422Q;ENSP00000385469:H422Q	ENSP00000331105:H132Q	H	-	3	2	THADA	43655442	1.000000	0.71417	0.912000	0.35992	0.852000	0.48524	1.165000	0.31822	0.369000	0.24510	-0.221000	0.12465	CAC		0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		C	43801938	G	C	43801938	3	2	49	1	0	0	0	0	1	0	0	0	15845	1252	44	4	4707	4	THADA	2	43801938	Missense_Mutation	SNP	G	TCGA-A3-3349-01A-01D-1251-10		43801938	199397435	5	3595											
NRXN1	9378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	50723141	50723141	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr2:50723141A>C	ENST00000406316.2	-	15	4448	c.2972T>G	c.(2971-2973)gTg>gGg	p.V991G	NRXN1_ENST00000401669.2_Missense_Mutation_p.V991G|NRXN1_ENST00000406859.3_Missense_Mutation_p.V991G|NRXN1_ENST00000401710.1_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.V983G|NRXN1_ENST00000402717.3_Missense_Mutation_p.V983G|NRXN1_ENST00000404971.1_Missense_Mutation_p.V1031G|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	991	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.V991G(1)|p.V1031G(1)|p.V1032G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGATATCATCACGTTGTGCCA	0.438																																																3	Substitution - Missense(3)	kidney(3)											168	154	159					2																	50723141		2054	4201	6255	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2972T>G	2.37:g.50723141A>C	ENSP00000384311:p.Val991Gly		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446630	0.84101	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.95535	0.8549	H	0.96489	3.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96933	0.9682	10	0.87932	D	0	.	15.0872	0.72165	1.0:0.0:0.0:0.0	.	1031;991;983	Q9ULB1-3;F8WB18;A7E294	.;.;.	G	1031;991;983;991;1032;983;991	ENSP00000385142:V1031G;ENSP00000384311:V991G;ENSP00000434015:V983G;ENSP00000385017:V991G;ENSP00000385434:V983G;ENSP00000385681:V991G	ENSP00000385017:V991G	V	-	2	0	NRXN1	50576645	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.080000	0.94040	2.204000	0.70986	0.533000	0.62120	GTG		0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			C	50723141	A	C	50723141	3	2	49	1	0	0	0	0	1	0	0	0	10667	159	6	5	1850	5	NRXN1	2	50723141	Missense_Mutation	SNP	A	TCGA-A3-3349-01A-01D-1251-10	6921203	50723141	192476232	6	3596											
AFTPH	54812	hgsc.bcm.edu;ucsc.edu	37	2	64808374	64808374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr2:64808374delG	ENST00000422803.1	+	8	2820	c.2506delG	c.(2506-2508)gacfs	p.D836fs	AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409933.1_Frame_Shift_Del_p.D836fs|AFTPH_ENST00000238855.7_Frame_Shift_Del_p.D836fs|RNU6-100P_ENST00000516605.1_RNA|AFTPH_ENST00000409183.1_Frame_Shift_Del_p.D467fs|AFTPH_ENST00000238856.4_Intron			Q6ULP2	AFTIN_HUMAN	aftiphilin	836					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GCCCGTGGATGACAGTAGCTC	0.463																																																0													83	84	83					2																	64808374		1952	4157	6109	SO:0001589	frameshift_variant	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2506delG	2.37:g.64808374delG	ENSP00000397726:p.Asp836fs		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Frame_Shift_Del	DEL	ENST00000422803.1	37																																																																																					0.463	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		-	64808374	G	-	64808374	7	5	49	1	0	1	0	1	0	0	0	0	364	1290	45	0	2532	0	AFTPH	2	64808374	Frame_Shift_Del	DEL	G	TCGA-A3-3349-01A-01D-1251-10	14085233	64808374	178390999	7	3597											
ARPC2	10109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219093573	219093573	+	Splice_Site	SNP	G	G	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr2:219093573G>T	ENST00000295685.10	+	3	483	c.222G>T	c.(220-222)gaG>gaT	p.E74D	ARPC2_ENST00000315717.5_Splice_Site_p.E74D	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	74					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)	p.E74D(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GTGCTGATGAGGTAAGATCCA	0.408																																																1	Substitution - Missense(1)	kidney(1)											88	83	85					2																	219093573		2203	4300	6503	SO:0001630	splice_region_variant	10109			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"Actin related protein 2/3 complex subunits"	705	protein-coding gene	gene with protein product		604224	"actin related protein 2/3 complex, subunit 2 (34 kD)"			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.222+1G>T	2.37:g.219093573G>T			Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603717	0.66445	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	L	0.41356	1.27	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.46748	-0.9169	9	0.27785	T	0.31	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	74	O15144	ARPC2_HUMAN	D	74	.	ENSP00000295685:E74D	E	+	3	2	ARPC2	218801818	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.620000	0.98373	2.941000	0.99782	0.655000	0.94253	GAG		0.408	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731	Missense_Mutation	T	219093573	G	T	219093573	5	4	49	1	0	0	0	0	0	0	1	0	971	1014	35	4	232	4	ARPC2	2	219093573	Splice_Site	SNP	G	TCGA-A3-3349-01A-01D-1251-10	154285199	219093573	24105800	8	3598											
COL6A3	1293	broad.mit.edu	37	2	238280926	238280926	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr2:238280926C>T	ENST00000295550.4	-	9	4186	c.3734G>A	c.(3733-3735)gGg>gAg	p.G1245E	COL6A3_ENST00000392003.2_Missense_Mutation_p.G838E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1039E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G1039E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1044E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G638E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1039E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1045E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1245	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G1245E(1)|p.G1039E(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAACTCAGGCCCGGCACTTTG	0.552																																																2	Substitution - Missense(2)	kidney(2)											69	65	66					2																	238280926		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3734G>A	2.37:g.238280926C>T	ENSP00000295550:p.Gly1245Glu		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	8.644	0.896648	0.17686	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.58	1.13	0.20643	von Willebrand factor, type A (3);	0.980128	0.08308	N	0.965873	T	0.65460	0.2693	M	0.88181	2.935	0.09310	N	1	D;B;B;P;B	0.55800	0.973;0.146;0.075;0.868;0.096	P;B;B;P;B	0.60012	0.867;0.102;0.219;0.572;0.129	T	0.53422	-0.8441	10	0.72032	D	0.01	.	10.4231	0.44363	0.2195:0.3699:0.4106:0.0	.	638;838;1039;1039;1245	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	E	1245;1044;1039;638;1039;1045;1039;838	ENSP00000295550:G1245E;ENSP00000315609:G1044E;ENSP00000315873:G1039E;ENSP00000418285:G638E;ENSP00000386844:G1039E;ENSP00000295546:G1045E;ENSP00000375861:G1039E;ENSP00000375860:G838E	ENSP00000295550:G1245E	G	-	2	0	COL6A3	237945665	0.000000	0.05858	0.002000	0.10522	0.279000	0.26890	0.098000	0.15189	0.284000	0.22305	-0.211000	0.12701	GGG		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238280926	C	T	238280926	3	4	49	1	0	0	0	0	1	0	0	0	3703	623	22	2	5990	2	COL6A3	2	238280926	Missense_Mutation	SNP	C	TCGA-A3-3349-01A-01D-1251-10	19187353	238280926	4918447	9	3599											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191540	10191540	+	Frame_Shift_Del	DEL	T	T	-	rs5030822		TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr3:10191540delT	ENST00000256474.2	+	3	1373	c.533delT	c.(532-534)ctgfs	p.L178fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.L137fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	178			L -> P (in VHLD; type I-II; common mutation). {ECO:0000269|PubMed:8956040}.|L -> Q (in VHLD; type II; dbSNP:rs5030822).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L178R(1)|p.R177fs*37(1)|p.L178_V181del(1)|p.?fs(1)|p.Y175_L178>*(1)|p.L178fs*36(1)|p.D179fs*36(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TACAGGAGACTGGACATCGTC	0.527		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Insertion - Frameshift(2)|Deletion - In frame(1)|Deletion - Frameshift(1)|Complex - frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(7)	GRCh37	CM003061|CM941386|CM961439	VHL	M	rs5030822						89	80	83					3																	10191540		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.533delT	3.37:g.10191540delT	ENSP00000256474:p.Leu178fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191540	T	-	10191540	7	5	49	1	0	1	0	1	0	0	0	0	17167	1580	55	0	543	0	VHL	3	10191540	Frame_Shift_Del	DEL	T	TCGA-A3-3349-01A-01D-1251-10		10191540	187830890	10	3600											
GALNTL2	117248	broad.mit.edu;ucsc.edu	37	3	16237362	16237362	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr3:16237362A>G	ENST00000339732.5	+	2	1138	c.635A>G	c.(634-636)cAc>cGc	p.H212R	GALNT15_ENST00000437509.1_Missense_Mutation_p.H212R	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	212	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.H212R(1)									CGGACTGTACACAGCATCCTC	0.607																																																1	Substitution - Missense(1)	kidney(1)											104	78	86					3																	16237362		2203	4300	6503	SO:0001583	missense	117248			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.635A>G	3.37:g.16237362A>G	ENSP00000344260:p.His212Arg		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569588	0.86439	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.60548	0.18;0.18	4.88	4.88	0.63580	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	L	0.60845	1.875	0.58432	D	0.999992	D	0.89917	1.0	D	0.80764	0.994	T	0.75522	-0.3288	10	0.87932	D	0	.	14.5169	0.67826	1.0:0.0:0.0:0.0	.	212	Q8N3T1	GLTL2_HUMAN	R	212	ENSP00000344260:H212R;ENSP00000395873:H212R	ENSP00000344260:H212R	H	+	2	0	GALNTL2	16212366	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.476000	0.81055	1.831000	0.53308	0.454000	0.30748	CAC		0.607	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		G	16237362	A	G	16237362	3	3	49	1	0	0	0	0	1	0	0	0	6224	159	6	3	641	3	GALNTL2	3	16237362	Missense_Mutation	SNP	A	TCGA-A3-3349-01A-01D-1251-10	6045822	16237362	181785068	11	3601											
PODXL2	50512	hgsc.bcm.edu;ucsc.edu	37	3	127390442	127390442	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr3:127390442delA	ENST00000342480.6	+	7	1630	c.1591delA	c.(1591-1593)aagfs	p.K531fs	ABTB1_ENST00000453791.2_5'Flank|ABTB1_ENST00000393363.3_5'Flank|ABTB1_ENST00000468137.1_5'Flank|ABTB1_ENST00000232744.8_5'Flank	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	531					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCGGCTGCCCAAGCTCAAGCA	0.617																																																0													72	63	66					3																	127390442		2203	4300	6503	SO:0001589	frameshift_variant	50512			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1591delA	3.37:g.127390442delA	ENSP00000345359:p.Lys531fs		Q6UVY4|Q8WUV6	Frame_Shift_Del	DEL	ENST00000342480.6	37	CCDS3044.1																																																																																				0.617	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		-	127390442	A	-	127390442	7	5	49	1	0	1	0	1	0	0	0	0	12183	131	5	0	1617	0	PODXL2	3	127390442	Frame_Shift_Del	DEL	A	TCGA-A3-3349-01A-01D-1251-10	111153080	127390442	70631988	12	3602											
IQCG	84223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	197652965	197652965	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr3:197652965C>A	ENST00000265239.6	-	7	1080	c.656G>T	c.(655-657)gGa>gTa	p.G219V	IQCG_ENST00000453254.1_Missense_Mutation_p.G219V|IQCG_ENST00000455191.1_Missense_Mutation_p.G219V	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	219						extracellular vesicular exosome (GO:0070062)		p.G219V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTGTTTTCTTCCTTTTTCCTC	0.368																																																1	Substitution - Missense(1)	kidney(1)											198	177	184					3																	197652965		2203	4298	6501	SO:0001583	missense	84223			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.656G>T	3.37:g.197652965C>A	ENSP00000265239:p.Gly219Val		Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502186	0.64298	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254	T;T;T	0.48836	0.8;0.8;0.86	4.44	4.44	0.53790	.	0.072571	0.53938	D	0.000054	T	0.66655	0.2811	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.974	T	0.65105	-0.6249	10	0.21014	T	0.42	-18.7748	13.0046	0.58696	0.0:1.0:0.0:0.0	.	219;219	C9JKX8;Q9H095	.;IQCG_HUMAN	V	219	ENSP00000265239:G219V;ENSP00000407736:G219V;ENSP00000389897:G219V	ENSP00000265239:G219V	G	-	2	0	IQCG	199137362	1.000000	0.71417	0.989000	0.46669	0.922000	0.55478	3.745000	0.55119	2.202000	0.70862	0.650000	0.86243	GGA		0.368	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		A	197652965	C	A	197652965	3	1	49	1	0	0	0	0	1	0	0	0	7812	855	30	4	699	4	IQCG	3	197652965	Missense_Mutation	SNP	C	TCGA-A3-3349-01A-01D-1251-10	70262523	197652965	369465	13	3603											
TEC	7006	hgsc.bcm.edu;ucsc.edu	37	4	48147535	48147535	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr4:48147535delA	ENST00000381501.3	-	13	1300	c.1143delT	c.(1141-1143)tttfs	p.F381fs	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TCACCACTCCAAACAGTCCAC	0.448																																																0													146	130	135					4																	48147535		2203	4300	6503	SO:0001589	frameshift_variant	100124696			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1143delT	4.37:g.48147535delA	ENSP00000370912:p.Phe381fs		B7ZKZ6|Q3MIS5	Frame_Shift_Del	DEL	ENST00000381501.3	37	CCDS3481.1																																																																																				0.448	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			-	48147535	A	-	48147535	7	5	49	1	0	1	0	1	0	0	0	0	15747	127	5	0	776	0	TEC	4	48147535	Frame_Shift_Del	DEL	A	TCGA-A3-3349-01A-01D-1251-10		48147535	143006741	14	3604											
ADAMTS12	81792	broad.mit.edu;ucsc.edu	37	5	33683970	33683970	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr5:33683970C>T	ENST00000504830.1	-	4	1160	c.825G>A	c.(823-825)atG>atA	p.M275I	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.M275I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	275	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.M275I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATACCATGTTCATGATGGTGA	0.468										HNSCC(64;0.19)																																						1	Substitution - Missense(1)	kidney(1)											113	104	107					5																	33683970		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.825G>A	5.37:g.33683970C>T	ENSP00000422554:p.Met275Ile		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936581	0.73442	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59772	0.24;0.24	5.21	5.21	0.72293	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.73297	0.3569	M	0.70903	2.155	0.80722	D	1	B;D	0.63880	0.347;0.993	B;D	0.71870	0.12;0.975	T	0.74962	-0.3485	10	0.72032	D	0.01	.	13.5991	0.62010	0.0:0.9257:0.0:0.0743	.	275;275	P58397-3;P58397	.;ATS12_HUMAN	I	275	ENSP00000422554:M275I;ENSP00000344847:M275I	ENSP00000344847:M275I	M	-	3	0	ADAMTS12	33719727	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	3.751000	0.55165	2.870000	0.98441	0.637000	0.83480	ATG		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33683970	C	T	33683970	3	4	49	1	0	0	0	0	1	0	0	0	257	826	29	2	4043	2	ADAMTS12	5	33683970	Missense_Mutation	SNP	C	TCGA-A3-3349-01A-01D-1251-10		33683970	147231290	15	3605											
MSX2	4488	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	174156377	174156377	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr5:174156377A>T	ENST00000239243.6	+	2	722	c.595A>T	c.(595-597)Aga>Tga	p.R199*		NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	199					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.R199*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAAGGCGAAAAGACTGCAGGA	0.552																																																1	Substitution - Nonsense(1)	kidney(1)											64	64	64					5																	174156377		2203	4300	6503	SO:0001587	stop_gained	4488			D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"Homeoboxes / ANTP class : NKL subclass"	7392	protein-coding gene	gene with protein product	"craniosynostosis, type 2"	123101	"msh (Drosophila) homeo box homolog 2", "parietal foramina 1", "msh homeobox homolog 2 (Drosophila)"	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.595A>T	5.37:g.174156377A>T	ENSP00000239243:p.Arg199*		D3DQN1|Q53XM4|Q9UD60	Nonsense_Mutation	SNP	ENST00000239243.6	37	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	A	36	5.624732	0.96660	.	.	ENSG00000120149	ENST00000239243	.	.	.	5.83	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2529	12.7135	0.57102	0.8628:0.1372:0.0:0.0	.	.	.	.	X	199	.	ENSP00000239243:R199X	R	+	1	2	MSX2	174088983	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.741000	0.55090	2.229000	0.72834	0.482000	0.46254	AGA		0.552	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			T	174156377	A	T	174156377	4	4	49	1	0	0	0	0	0	1	0	0	9898	64	3	5	601	5	MSX2	5	174156377	Nonsense_Mutation	SNP	A	TCGA-A3-3349-01A-01D-1251-10	140472407	174156377	6758883	16	3606											
C6orf97	80129	broad.mit.edu;hgsc.bcm.edu	37	6	151894314	151894314	+	Silent	SNP	G	G	A			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr6:151894314G>A	ENST00000239374.7	+	6	879	c.780G>A	c.(778-780)ctG>ctA	p.L260L	CCDC170_ENST00000367290.5_Silent_p.L260L	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	260								p.L260L(1)									TTTAGGACCTGCTCAGTGCTG	0.443																																																1	Substitution - coding silent(1)	kidney(1)											51	51	51					6																	151894314		1862	4107	5969	SO:0001819	synonymous_variant	0			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.780G>A	6.37:g.151894314G>A			Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	CCDS43515.1																																																																																				0.443	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		A	151894314	G	A	151894314	2	1	49	1	0	0	0	0	0	0	0	1	2376	1306	46	2		2	C6orf97	6	151894314	Silent	SNP	G	TCGA-A3-3349-01A-01D-1251-10		151894314	19220753	17	3607											
PMS2	5395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6042192	6042192	+	Silent	SNP	A	A	G	rs35650314		TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr7:6042192A>G	ENST00000265849.7	-	5	534	c.429T>C	c.(427-429)atT>atC	p.I143I	Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000382321.4_Silent_p.I143I|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.I143I|PMS2_ENST00000441476.2_Silent_p.I37I	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	143					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.I143I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTTTCTGGATAATTTTCCCAT	0.502			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	1	Substitution - coding silent(1)	kidney(1)											108	113	111					7																	6042192		2203	4300	6503	SO:0001819	synonymous_variant	5395	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		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.429T>C	7.37:g.6042192A>G			B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																				0.502	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		G	6042192	A	G	6042192	2	3	49	1	0	0	0	0	0	0	0	1	12145	358	13	3		3	PMS2	7	6042192	Silent	SNP	A	TCGA-A3-3349-01A-01D-1251-10		6042192	153096471	18	3608											
CHRNA2	1135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27321118	27321118	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr8:27321118C>G	ENST00000520933.2	-	5	995	c.842G>C	c.(841-843)tGc>tCc	p.C281S	CHRNA2_ENST00000407991.1_Missense_Mutation_p.C281S|CHRNA2_ENST00000240132.2_Missense_Mutation_p.C266S			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	281					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.C281S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	CACAGTGAGGCAGGAGATGAG	0.602																																																1	Substitution - Missense(1)	kidney(1)											251	201	218					8																	27321118		2203	4300	6503	SO:0001583	missense	1135			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.842G>C	8.37:g.27321118C>G	ENSP00000429616:p.Cys281Ser		A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582299	0.65992	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	D;D;D	0.85556	-2.0;-2.0;-2.0	4.97	4.09	0.47781	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.042710	0.85682	D	0.000000	D	0.84606	0.5509	L	0.35793	1.09	0.80722	D	1	P;P	0.51791	0.948;0.889	P;P	0.55667	0.781;0.628	T	0.82257	-0.0547	10	0.30078	T	0.28	.	12.4368	0.55604	0.169:0.831:0.0:0.0	.	266;281	B4DK19;Q15822	.;ACHA2_HUMAN	S	281;281;266	ENSP00000385026:C281S;ENSP00000429616:C281S;ENSP00000240132:C266S	ENSP00000240132:C266S	C	-	2	0	CHRNA2	27377035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.802000	0.62539	1.295000	0.44724	0.561000	0.74099	TGC		0.602	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			G	27321118	C	G	27321118	3	3	49	1	0	0	0	0	1	0	0	0	3385	710	25	4	755	4	CHRNA2	8	27321118	Missense_Mutation	SNP	C	TCGA-A3-3349-01A-01D-1251-10		27321118	119042904	19	3609											
CRISPLD1	83690	broad.mit.edu;ucsc.edu	37	8	75927084	75927084	+	Missense_Mutation	SNP	C	C	T	rs566911502		TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr8:75927084C>T	ENST00000262207.4	+	6	1132	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.R36W|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.R34W	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	222					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.R222W(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAACATGGGCGGCCCTGTTC	0.423																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											52	48	50					8																	75927084		2203	4300	6503	SO:0001583	missense	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.664C>T	8.37:g.75927084C>T	ENSP00000262207:p.Arg222Trp		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702661	0.68501	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	T;T;D	0.83250	0.2;-1.34;-1.7	4.6	3.69	0.42338	.	0.171361	0.46442	D	0.000284	T	0.79747	0.4499	L	0.49126	1.545	0.38547	D	0.949369	D;P	0.56968	0.978;0.903	B;B	0.43623	0.425;0.2	T	0.83052	-0.0152	10	0.72032	D	0.01	.	13.595	0.61984	0.1616:0.8384:0.0:0.0	.	36;222	B7Z929;Q9H336	.;CRLD1_HUMAN	W	222;34;36	ENSP00000262207:R222W;ENSP00000430105:R34W;ENSP00000429746:R36W	ENSP00000262207:R222W	R	+	1	2	CRISPLD1	76089639	0.107000	0.21998	0.873000	0.34254	0.895000	0.52256	1.508000	0.35769	1.085000	0.41206	0.460000	0.39030	CGG		0.423	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		T	75927084	C	T	75927084	3	4	49	1	0	0	0	0	1	0	0	0	3884	759	27	1	682	1	CRISPLD1	8	75927084	Missense_Mutation	SNP	C	TCGA-A3-3349-01A-01D-1251-10	48605966	75927084	70436938	20	3610											
RGS3	5998	broad.mit.edu;ucsc.edu	37	9	116267783	116267783	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr9:116267783G>C	ENST00000374140.2	+	12	1168	c.959G>C	c.(958-960)cGa>cCa	p.R320P	RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000350696.5_Missense_Mutation_p.R320P|RGS3_ENST00000394646.3_Missense_Mutation_p.R39P|RGS3_ENST00000317613.6_Missense_Mutation_p.R208P|RGS3_ENST00000343817.5_Missense_Mutation_p.R39P	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	320	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R208P(1)|p.R320P(1)|p.R216P(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTCCAGTTCGAGTCCAGGCC	0.562																																																3	Substitution - Missense(3)	kidney(3)											148	106	120					9																	116267783		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.959G>C	9.37:g.116267783G>C	ENSP00000363255:p.Arg320Pro		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059400	0.93846	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	6.01	6.01	0.97437	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.997;1.0;0.999;0.999	T	0.58858	-0.7562	10	0.87932	D	0	.	17.6771	0.88233	0.0:0.0:1.0:0.0	.	39;39;210;208;320	B3KUB2;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;RGS3_HUMAN	P	320;320;208;39;39	ENSP00000363255:R320P;ENSP00000259406:R320P;ENSP00000312844:R208P;ENSP00000340284:R39P;ENSP00000378141:R39P	ENSP00000312844:R208P	R	+	2	0	RGS3	115307604	1.000000	0.71417	0.997000	0.53966	0.894000	0.52154	8.765000	0.91724	2.861000	0.98227	0.650000	0.86243	CGA		0.562	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		C	116267783	G	C	116267783	3	2	49	1	0	0	0	0	1	0	0	0	13312	1058	37	4	1142	4	RGS3	9	116267783	Missense_Mutation	SNP	G	TCGA-A3-3349-01A-01D-1251-10		116267783	24945648	21	3611											
ACSL5	51703	hgsc.bcm.edu;ucsc.edu	37	10	114164332	114164332	+	Splice_Site	SNP	A	A	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr10:114164332A>T	ENST00000393081.1	+	4	636	c.329A>T	c.(328-330)cAg>cTg	p.Q110L	RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000356116.1_Splice_Site_p.Q166L|ACSL5_ENST00000354655.4_Splice_Site_p.Q110L|ACSL5_ENST00000433418.1_Splice_Site_p.Q110L|ACSL5_ENST00000354273.4_Splice_Site_p.Q110L|ACSL5_ENST00000479936.1_3'UTR|RP11-324O2.3_ENST00000594870.2_RNA|RP11-324O2.3_ENST00000598447.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	110					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCTTACAAACAGGTAAGTTGA	0.368																																																0													83	84	83					10																	114164332		2203	4300	6503	SO:0001630	splice_region_variant	51703			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.330+1A>T	10.37:g.114164332A>T			A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722533	0.89298	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.3	5.3	0.74995	AMP-dependent synthetase/ligase (1);	0.056394	0.64402	N	0.000001	T	0.74015	0.3661	H	0.95004	3.61	0.80722	D	1	D;P;P	0.56035	0.974;0.947;0.923	P;P;P	0.59424	0.857;0.726;0.756	T	0.82352	-0.0500	10	0.87932	D	0	-9.2697	14.5126	0.67797	1.0:0.0:0.0:0.0	.	110;166;110	A6GV77;Q9ULC5-3;Q9ULC5	.;.;ACSL5_HUMAN	L	110;110;166;110;110	ENSP00000346680:Q110L;ENSP00000376796:Q110L;ENSP00000348429:Q166L;ENSP00000403647:Q110L;ENSP00000346223:Q110L	ENSP00000346223:Q110L	Q	+	2	0	ACSL5	114154322	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	8.803000	0.91915	2.129000	0.65627	0.533000	0.62120	CAG		0.368	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234	Missense_Mutation	T	114164332	A	T	114164332	5	4	49	1	0	0	0	0	0	0	1	0	180	202	7	5	511	5	ACSL5	10	114164332	Splice_Site	SNP	A	TCGA-A3-3349-01A-01D-1251-10		114164332	21370415	22	3612											
TRIM21	6737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4411299	4411299	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr11:4411299C>T	ENST00000254436.7	-	2	453	c.341G>A	c.(340-342)tGt>tAt	p.C114Y	TRIM21_ENST00000543625.1_Missense_Mutation_p.C114Y	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	114					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C114Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AGACTGGGCACATACCCAGCA	0.587																																																1	Substitution - Missense(1)	kidney(1)											71	75	73					11																	4411299		2048	4196	6244	SO:0001583	missense	6737			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.341G>A	11.37:g.4411299C>T	ENSP00000254436:p.Cys114Tyr		Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696126	0.68386	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	D;D	0.99080	-5.4;-5.4	4.32	4.32	0.51571	Zinc finger, B-box, chordata (1);Zinc finger, B-box (3);	0.000000	0.56097	D	0.000033	D	0.99560	0.9842	H	0.97874	4.095	0.38543	D	0.94927	D	0.89917	1.0	D	0.91635	0.999	D	0.97920	1.0314	10	0.87932	D	0	.	15.1289	0.72503	0.0:1.0:0.0:0.0	.	114	P19474	RO52_HUMAN	Y	114	ENSP00000254436:C114Y;ENSP00000444045:C114Y	ENSP00000254436:C114Y	C	-	2	0	TRIM21	4367875	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.177000	0.65032	2.691000	0.91804	0.561000	0.74099	TGT		0.587	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		T	4411299	C	T	4411299	3	4	49	1	0	0	0	0	1	0	0	0	16500	478	17	2	1110	2	TRIM21	11	4411299	Missense_Mutation	SNP	C	TCGA-A3-3349-01A-01D-1251-10		4411299	130595217	23	3613											
ABTB2	25841	hgsc.bcm.edu	37	11	34174107	34174107	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr11:34174107G>T	ENST00000435224.2	-	17	3329	c.2905C>A	c.(2905-2907)Ctg>Atg	p.L969M	ABTB2_ENST00000298992.2_Missense_Mutation_p.L783M	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	969					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCACAGAACAGGGCCAGTTCT	0.592																																																0													51	48	49					11																	34174107		2202	4298	6500	SO:0001583	missense	25841			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2905C>A	11.37:g.34174107G>T	ENSP00000410157:p.Leu969Met		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809359	0.31961	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.59364	0.27;0.27	4.71	4.71	0.59529	.	0.541426	0.18356	N	0.143712	T	0.41743	0.1172	L	0.36672	1.1	0.29040	N	0.885132	P	0.36837	0.571	B	0.30495	0.116	T	0.47459	-0.9116	10	0.54805	T	0.06	.	7.1158	0.25416	0.1313:0.1624:0.7063:0.0	.	783	Q8N961	ABTB2_HUMAN	M	969;783	ENSP00000410157:L969M;ENSP00000298992:L783M	ENSP00000298992:L783M	L	-	1	2	ABTB2	34130683	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.730000	0.38125	2.156000	0.67533	0.462000	0.41574	CTG		0.592	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		T	34174107	G	T	34174107	3	4	49	1	0	0	0	0	1	0	0	0	103	991	35	4	176	4	ABTB2	11	34174107	Missense_Mutation	SNP	G	TCGA-A3-3349-01A-01D-1251-10	29762808	34174107	100832409	24	3614											
BEST1	7439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61730491	61730491	+	Intron	SNP	T	T	C			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr11:61730491T>C	ENST00000378043.4	+	10	2382				BEST1_ENST00000301774.9_Missense_Mutation_p.L250P|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.L562P	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.L562P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACACTGGACCTACGCCCAGCA	0.567																																																1	Substitution - Missense(1)	kidney(1)											86	76	79					11																	61730491		692	1591	2283	SO:0001627	intron_variant	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1739+126T>C	11.37:g.61730491T>C			A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237219	0.39498	.	.	ENSG00000167995	ENST00000301774;ENST00000449131	T;D	0.97553	-0.53;-4.43	3.78	2.62	0.31277	.	.	.	.	.	D	0.89750	0.6805	N	0.08118	0	0.18873	N	0.999989	B	0.21225	0.053	B	0.14023	0.01	T	0.80881	-0.1184	8	.	.	.	.	5.9269	0.19118	0.0:0.2302:0.0:0.7698	.	562	O76090-3	.	P	250;562	ENSP00000301774:L250P;ENSP00000399709:L562P	.	L	+	2	0	BEST1	61487067	0.004000	0.15560	0.027000	0.17364	0.058000	0.15608	0.419000	0.21247	0.592000	0.29728	0.459000	0.35465	CTA		0.567	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		C	61730491	T	C	61730491	1	2	49	0	1	0	0	0	0	0	0	0	1404	1522	53	3		3	BEST1	11	61730491	Intron	SNP	T	TCGA-A3-3349-01A-01D-1251-10	27556384	61730491	73276025	25	3615											
SYT12	91683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66807536	66807536	+	Silent	SNP	G	G	A			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr11:66807536G>A	ENST00000393946.2	+	7	1645	c.483G>A	c.(481-483)gaG>gaA	p.E161E	SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000525457.1_Silent_p.E161E|SYT12_ENST00000527043.1_Silent_p.E161E			Q8IV01	SYT12_HUMAN	synaptotagmin XII	161						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.E161E(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TGAGCATGGAGTACGACACTG	0.627																																					Ovarian(65;2862 3307)											1	Substitution - coding silent(1)	kidney(1)											74	68	70					11																	66807536		2200	4295	6495	SO:0001819	synonymous_variant	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.483G>A	11.37:g.66807536G>A				Silent	SNP	ENST00000393946.2	37	CCDS8154.1																																																																																				0.627	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		A	66807536	G	A	66807536	2	1	49	1	0	0	0	0	0	0	0	1	15473	1020	36	2		2	SYT12	11	66807536	Silent	SNP	G	TCGA-A3-3349-01A-01D-1251-10	5077045	66807536	68198980	26	3616											
ACAD10	80724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112193484	112193484	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr12:112193484G>A	ENST00000313698.4	+	20	3129	c.2974G>A	c.(2974-2976)Gat>Aat	p.D992N	ACAD10_ENST00000455480.2_Missense_Mutation_p.D1023N|RP11-162P23.2_ENST00000546840.2_Nonsense_Mutation_p.W13*	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	992						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.D992N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGCAGCCTTGGATATAGCCAT	0.552																																																1	Substitution - Missense(1)	kidney(1)											120	121	120					12																	112193484		2203	4300	6503	SO:0001583	missense	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2974G>A	12.37:g.112193484G>A	ENSP00000325137:p.Asp992Asn		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934946	0.52866	.	.	ENSG00000111271	ENST00000455480;ENST00000313698;ENST00000512792;ENST00000546899	D;D	0.96073	-3.9;-3.9	4.98	4.06	0.47325	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.421246	0.24539	N	0.037650	D	0.95544	0.8552	M	0.71920	2.185	0.80722	D	1	P;B	0.34997	0.479;0.188	B;B	0.43155	0.247;0.41	D	0.95403	0.8491	10	0.72032	D	0.01	.	14.1514	0.65387	0.0:0.1517:0.8483:0.0	.	1023;992	G3XAJ0;Q6JQN1	.;ACD10_HUMAN	N	1023;992;147;12	ENSP00000389813:D1023N;ENSP00000325137:D992N	ENSP00000325137:D992N	D	+	1	0	ACAD10	110677867	1.000000	0.71417	0.026000	0.17262	0.969000	0.65631	4.756000	0.62205	1.271000	0.44313	0.561000	0.74099	GAT		0.552	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		A	112193484	G	A	112193484	3	1	49	1	0	0	0	0	1	0	0	0	108	1174	41	2	3145	2	ACAD10	12	112193484	Missense_Mutation	SNP	G	TCGA-A3-3349-01A-01D-1251-10		112193484	21658411	27	3617											
C14orf174	161394	broad.mit.edu	37	14	77844367	77844367	+	Silent	SNP	A	A	G			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr14:77844367A>G	ENST00000216471.4	+	1	892	c.606A>G	c.(604-606)gaA>gaG	p.E202E	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	202								p.E202E(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCAACATGAAGAGACAGGTC	0.468																																																1	Substitution - coding silent(1)	kidney(1)											59	65	63					14																	77844367		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.606A>G	14.37:g.77844367A>G			Q2M3P3	Silent	SNP	ENST00000216471.4	37	CCDS32126.1																																																																																				0.468	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		G	77844367	A	G	77844367	2	3	49	1	0	0	0	0	0	0	0	1	1761	69	3	3		3	C14orf174	14	77844367	Silent	SNP	A	TCGA-A3-3349-01A-01D-1251-10		77844367	29505173	28	3618											
ZFHX3	463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	72829790	72829790	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr16:72829790T>G	ENST00000268489.5	-	9	7463	c.6791A>C	c.(6790-6792)aAt>aCt	p.N2264T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.N1350T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2264					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.N2264T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGGTAAGCATTGGCATCGAA	0.488																																																1	Substitution - Missense(1)	kidney(1)											209	198	202					16																	72829790		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6791A>C	16.37:g.72829790T>G	ENSP00000268489:p.Asn2264Thr		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046946	0.55110	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.96168	-3.93;-3.93	5.79	5.79	0.91817	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.53938	D	0.000059	D	0.94837	0.8332	N	0.16307	0.4	0.80722	D	1	D	0.61080	0.989	P	0.62560	0.904	D	0.96042	0.9025	10	0.72032	D	0.01	.	16.1193	0.81336	0.0:0.0:0.0:1.0	.	2264	Q15911	ZFHX3_HUMAN	T	2264;1350	ENSP00000268489:N2264T;ENSP00000438926:N1350T	ENSP00000268489:N2264T	N	-	2	0	ZFHX3	71387291	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	8.040000	0.89188	2.201000	0.70794	0.533000	0.62120	AAT		0.488	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		G	72829790	T	G	72829790	3	3	49	1	0	0	0	0	1	0	0	0	17639	1493	52	5	4328	5	ZFHX3	16	72829790	Missense_Mutation	SNP	T	TCGA-A3-3349-01A-01D-1251-10		72829790	17524963	29	3619											
ERBB2	2064	broad.mit.edu	37	17	37883729	37883729	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr17:37883729A>G	ENST00000269571.5	+	26	3500	c.3341A>G	c.(3340-3342)gAg>gGg	p.E1114G	ERBB2_ENST00000445658.2_Missense_Mutation_p.E838G|ERBB2_ENST00000584601.1_Missense_Mutation_p.E1084G|ERBB2_ENST00000406381.2_Missense_Mutation_p.E1084G|ERBB2_ENST00000540147.1_Missense_Mutation_p.E1084G|ERBB2_ENST00000584450.1_Intron|ERBB2_ENST00000541774.1_Missense_Mutation_p.E1099G|MIR4728_ENST00000580969.1_RNA|MIEN1_ENST00000474210.1_5'Flank			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1114					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.E1114G(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CGGTACAGTGAGGACCCCACA	0.612		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	1	Substitution - Missense(1)	kidney(1)											62	64	63					17																	37883729		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3341A>G	17.37:g.37883729A>G	ENSP00000269571:p.Glu1114Gly		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000737	0.54254	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.77229	-1.08;-1.08;-1.06;-1.08;-1.08	5.2	4.1	0.47936	.	.	.	.	.	T	0.74291	0.3697	L	0.51422	1.61	0.80722	D	1	P;P;P	0.47910	0.61;0.902;0.61	B;P;B	0.46543	0.219;0.52;0.219	T	0.71155	-0.4675	9	0.39692	T	0.17	.	9.748	0.40459	0.8457:0.0:0.0:0.1543	.	838;1099;1114	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	G	1084;1099;838;1114;1084	ENSP00000385185:E1084G;ENSP00000446466:E1099G;ENSP00000404047:E838G;ENSP00000269571:E1114G;ENSP00000443562:E1084G	ENSP00000269571:E1114G	E	+	2	0	ERBB2	35137255	1.000000	0.71417	0.994000	0.49952	0.935000	0.57460	6.076000	0.71267	0.772000	0.33382	0.459000	0.35465	GAG		0.612	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			G	37883729	A	G	37883729	3	3	49	1	0	0	0	0	1	0	0	0	5208	304	11	3	3443	3	ERBB2	17	37883729	Missense_Mutation	SNP	A	TCGA-A3-3349-01A-01D-1251-10		37883729	43311481	30	3620											
SCPEP1	59342	hgsc.bcm.edu;ucsc.edu	37	17	55072362	55072362	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr17:55072362delC	ENST00000262288.3	+	7	695	c.640delC	c.(640-642)cctfs	p.P214fs	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	214					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					CTCCTGGGGACCTTACCTGTA	0.463																																																0													205	164	178					17																	55072362		2203	4300	6503	SO:0001589	frameshift_variant	59342			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"retinoid inducible serine carboxypeptidase"					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.640delC	17.37:g.55072362delC	ENSP00000262288:p.Pro214fs		Q96A94|Q9H3F0	Frame_Shift_Del	DEL	ENST00000262288.3	37	CCDS11593.1																																																																																				0.463	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		-	55072362	C	-	55072362	7	5	49	1	0	1	0	1	0	0	0	0	13941	507	18	0	666	0	SCPEP1	17	55072362	Frame_Shift_Del	DEL	C	TCGA-A3-3349-01A-01D-1251-10	17188633	55072362	26122848	31	3621											
BCAS3	54828	broad.mit.edu;ucsc.edu	37	17	59155722	59155722	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr17:59155722A>G	ENST00000390652.5	+	22	2235	c.2204A>G	c.(2203-2205)cAt>cGt	p.H735R	BCAS3_ENST00000588462.1_Missense_Mutation_p.H735R|BCAS3_ENST00000589222.1_Missense_Mutation_p.H720R|BCAS3_ENST00000408905.3_Missense_Mutation_p.H720R|BCAS3_ENST00000588874.1_Missense_Mutation_p.H491R|BCAS3_ENST00000407086.3_Missense_Mutation_p.H720R|BCAS3_ENST00000585744.1_Missense_Mutation_p.H506R	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.H735R(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ACTGGACCCCATAGACGTCTG	0.448																																																1	Substitution - Missense(1)	kidney(1)											119	113	115					17																	59155722		1917	4138	6055	SO:0001583	missense	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2204A>G	17.37:g.59155722A>G	ENSP00000375067:p.His735Arg			Missense_Mutation	SNP	ENST00000390652.5	37	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.594166	0.86953	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905	T;T;T	0.38240	1.16;1.15;1.18	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.96;0.991;0.96	D;D;D;D;D	0.83275	0.99;0.996;0.948;0.991;0.948	T	0.60535	-0.7244	10	0.46703	T	0.11	.	16.2071	0.82135	1.0:0.0:0.0:0.0	.	720;735;720;735;720	Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	R	735;720;720	ENSP00000375067:H735R;ENSP00000385323:H720R;ENSP00000386173:H720R	ENSP00000375067:H735R	H	+	2	0	BCAS3	56510504	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.070000	0.93974	2.240000	0.73641	0.477000	0.44152	CAT		0.448	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		G	59155722	A	G	59155722	3	3	49	1	0	0	0	0	1	0	0	0	1352	217	8	3	2286	3	BCAS3	17	59155722	Missense_Mutation	SNP	A	TCGA-A3-3349-01A-01D-1251-10	4083360	59155722	22039488	32	3622											
USP36	57602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76795062	76795062	+	Silent	SNP	A	A	C			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr17:76795062A>C	ENST00000542802.3	-	19	3611	c.3168T>G	c.(3166-3168)gcT>gcG	p.A1056A	USP36_ENST00000312010.6_Silent_p.A1056A|USP36_ENST00000449938.2_Silent_p.A661A			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1054					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.A1056A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TGTCTTCAATAGCATCCTGAC	0.577																																																1	Substitution - coding silent(1)	kidney(1)											260	210	227					17																	76795062		2203	4300	6503	SO:0001819	synonymous_variant	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.3168T>G	17.37:g.76795062A>C			Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	CCDS32755.1																																																																																				0.577	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		C	76795062	A	C	76795062	2	2	49	1	0	0	0	0	0	0	0	1	17072	407	15	5		5	USP36	17	76795062	Silent	SNP	A	TCGA-A3-3349-01A-01D-1251-10	17639340	76795062	4400148	33	3623											
ATP5A1	498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	43668204	43668204	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr18:43668204C>A	ENST00000398752.6	-	6	791	c.670G>T	c.(670-672)Gac>Tac	p.D224Y	ATP5A1_ENST00000593152.2_Missense_Mutation_p.D174Y|ATP5A1_ENST00000590665.1_Missense_Mutation_p.D202Y|ATP5A1_ENST00000282050.2_Missense_Mutation_p.D224Y	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	224					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.D224Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						ATGATTGTGTCAATAGCAATT	0.353																																																1	Substitution - Missense(1)	kidney(1)											91	89	90					18																	43668204		2203	4300	6503	SO:0001583	missense	498			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	823	protein-coding gene	gene with protein product		164360	"ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.670G>T	18.37:g.43668204C>A	ENSP00000381736:p.Asp224Tyr		A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387745	0.82902	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.82711	-1.64;-1.64	5.06	5.06	0.68205	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.044496	0.85682	D	0.000000	D	0.96454	0.8843	H	0.99985	5.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99406	1.0929	10	0.87932	D	0	-22.7919	18.4439	0.90677	0.0:1.0:0.0:0.0	.	224	P25705	ATPA_HUMAN	Y	224;224;174	ENSP00000282050:D224Y;ENSP00000381736:D224Y	ENSP00000282050:D224Y	D	-	1	0	ATP5A1	41922202	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.760000	0.85248	2.344000	0.79699	0.591000	0.81541	GAC		0.353	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		A	43668204	C	A	43668204	3	1	49	1	0	0	0	0	1	0	0	0	1147	826	29	4	1019	4	ATP5A1	18	43668204	Missense_Mutation	SNP	C	TCGA-A3-3349-01A-01D-1251-10		43668204	34409044	34	3624											
LRRC8E	80131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7964495	7964495	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr19:7964495T>C	ENST00000306708.6	+	3	1189	c.1088T>C	c.(1087-1089)tTc>tCc	p.F363S	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	363					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F363S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AAGAATGACTTCGCCTTCATG	0.582																																																1	Substitution - Missense(1)	kidney(1)											107	80	89					19																	7964495		2203	4300	6503	SO:0001583	missense	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1088T>C	19.37:g.7964495T>C	ENSP00000306524:p.Phe363Ser		B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.517089	0.64634	.	.	ENSG00000171017	ENST00000306708	T	0.29397	1.57	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	M	0.80616	2.505	0.58432	D	0.999998	D	0.76494	0.999	D	0.68621	0.959	T	0.61603	-0.7029	10	0.87932	D	0	.	12.5165	0.56036	0.0:0.0:0.0:1.0	.	363	Q6NSJ5	LRC8E_HUMAN	S	363	ENSP00000306524:F363S	ENSP00000306524:F363S	F	+	2	0	LRRC8E	7870495	1.000000	0.71417	0.934000	0.37439	0.755000	0.42902	7.863000	0.87023	2.060000	0.61445	0.454000	0.30748	TTC		0.582	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		C	7964495	T	C	7964495	3	2	49	1	0	0	0	0	1	0	0	0	9027	1783	62	3	1094	3	LRRC8E	19	7964495	Missense_Mutation	SNP	T	TCGA-A3-3349-01A-01D-1251-10		7964495	51164488	35	3625											
RGL3	57139	broad.mit.edu	37	19	11529441	11529441	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr19:11529441delC	ENST00000380456.3	-	2	116	c.53delG	c.(52-54)ggtfs	p.G18fs	RGL3_ENST00000393423.3_Frame_Shift_Del_p.G18fs	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	18					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GGTCTCTTCACCCCAGTCCTG	0.731																																					GBM(174;751 2067 17998 27979 33959)											0													9	9	9					19																	11529441		2170	4264	6434	SO:0001589	frameshift_variant	57139			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.53delG	19.37:g.11529441delC	ENSP00000369823:p.Gly18fs		B5ME84|B7ZL22|Q0P6G0	Frame_Shift_Del	DEL	ENST00000380456.3	37	CCDS32910.1																																																																																				0.731	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		-	11529441	C	-	11529441	7	5	49	1	0	1	0	1	0	0	0	0	13284	507	18	0	2169	0	RGL3	19	11529441	Frame_Shift_Del	DEL	C	TCGA-A3-3349-01A-01D-1251-10	3564946	11529441	47599542	36	3626											
EPS8L1	54869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55597327	55597327	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr19:55597327C>T	ENST00000201647.6	+	15	1560	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	EPS8L1_ENST00000540810.1_Missense_Mutation_p.R438W|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R516W|EPS8L1_ENST00000245618.5_Missense_Mutation_p.R375W|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R188W	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	502	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)	p.R516W(1)|p.R502W(1)|p.R375W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGTCAAGCAGCGGGACGTACT	0.562																																					Ovarian(149;255 1863 3636 27051 29647)											3	Substitution - Missense(3)	kidney(3)											69	67	68					19																	55597327		2203	4300	6503	SO:0001583	missense	54869			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1504C>T	19.37:g.55597327C>T	ENSP00000201647:p.Arg502Trp		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932993	0.34096	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.48201	0.82;0.82;0.82	4.43	-3.32	0.04973	Src homology-3 domain (4);	0.264843	0.35615	N	0.003083	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.21147	0.003;0.012;0.052;0.006	B;B;B;B	0.13407	0.001;0.006;0.009;0.003	T	0.06075	-1.0847	10	0.56958	D	0.05	-7.7961	3.2809	0.06915	0.2434:0.3166:0.3502:0.0898	.	516;281;375;502	Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;ES8L1_HUMAN	W	516;502;438;375;188	ENSP00000201647:R502W;ENSP00000437541:R438W;ENSP00000245618:R375W	ENSP00000201647:R502W	R	+	1	2	EPS8L1	60289139	0.008000	0.16893	0.005000	0.12908	0.015000	0.08874	0.375000	0.20518	-0.218000	0.10018	-0.466000	0.05196	CGG		0.562	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		T	55597327	C	T	55597327	3	4	49	1	0	0	0	0	1	0	0	0	5197	759	27	1	1610	1	EPS8L1	19	55597327	Missense_Mutation	SNP	C	TCGA-A3-3349-01A-01D-1251-10	44067886	55597327	3531656	37	3627											
SIRPG	55423	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	1616066	1616066	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr20:1616066A>T	ENST00000303415.3	-	4	992	c.928T>A	c.(928-930)Tgg>Agg	p.W310R	SIRPG_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000381580.1_Missense_Mutation_p.W277R|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000437384.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	310	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.W310R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CAGCTTGTCCAGTTGTAGGTA	0.547																																																1	Substitution - Missense(1)	kidney(1)											226	179	195					20																	1616066		2203	4300	6503	SO:0001583	missense	55423			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.928T>A	20.37:g.1616066A>T	ENSP00000305529:p.Trp310Arg		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	6.990	0.552682	0.13374	.	.	ENSG00000089012	ENST00000381580;ENST00000303415	T;T	0.02709	4.19;4.19	1.6	-1.93	0.07594	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.650470	0.01169	N	0.006835	T	0.03136	0.0092	L	0.36672	1.1	0.09310	N	0.999999	B	0.22346	0.068	B	0.24394	0.053	T	0.43540	-0.9385	10	0.27082	T	0.32	.	4.9568	0.14046	0.4125:0.0:0.5875:0.0	.	310	Q9P1W8	SIRPG_HUMAN	R	277;310	ENSP00000370992:W277R;ENSP00000305529:W310R	ENSP00000305529:W310R	W	-	1	0	SIRPG	1564066	0.000000	0.05858	0.031000	0.17742	0.346000	0.29079	-0.026000	0.12392	-0.430000	0.07318	0.164000	0.16699	TGG		0.547	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		T	1616066	A	T	1616066	3	4	49	1	0	0	0	0	1	0	0	0	14342	188	7	5	243	5	SIRPG	20	1616066	Missense_Mutation	SNP	A	TCGA-A3-3349-01A-01D-1251-10		1616066	61409454	38	3628											
RGL4	266747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24034361	24034361	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3349-01A-01D-1251-10	TCGA-A3-3349-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2b257f6-9cb5-4598-89c7-f0b55e24dbb3	aa4a92b2-92ab-48d5-a8e5-9e84319e1799	g.chr22:24034361G>T	ENST00000290691.5	+	1	1314	c.144G>T	c.(142-144)caG>caT	p.Q48H	GUSBP11_ENST00000455485.1_RNA|AP000347.2_ENST00000417194.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000401461.1_Intron	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	48					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.Q48H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGTATGGCCAGGTCTGCCCCT	0.637																																																1	Substitution - Missense(1)	kidney(1)											101	94	96					22																	24034361		2203	4300	6503	SO:0001583	missense	266747				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.144G>T	22.37:g.24034361G>T	ENSP00000290691:p.Gln48His		Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	13.42	2.230851	0.39399	.	.	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	T;T	0.32515	1.64;1.45	1.72	1.72	0.24424	.	2.588180	0.03390	U	0.201772	T	0.36663	0.0975	L	0.27053	0.805	0.09310	N	1	D;P	0.59357	0.985;0.943	P;P	0.55667	0.769;0.781	T	0.40117	-0.9580	10	0.38643	T	0.18	.	9.4001	0.38426	0.0:0.0:1.0:0.0	.	48;48	E9PH87;Q8IZJ4	.;RGDSR_HUMAN	H	48	ENSP00000290691:Q48H;ENSP00000402142:Q48H	ENSP00000290691:Q48H	Q	+	3	2	RGL4	22364361	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.902000	0.04088	1.273000	0.44346	0.436000	0.28706	CAG		0.637	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		T	24034361	G	T	24034361	3	4	49	1	0	0	0	0	1	0	0	0	13285	991	35	4	146	4	RGL4	22	24034361	Missense_Mutation	SNP	G	TCGA-A3-3349-01A-01D-1251-10		24034361	27270205	39	3629											
AK2	204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33487201	33487201	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:33487201G>T	ENST00000487289.1	-	3	338	c.323C>A	c.(322-324)gCa>gAa	p.A108E	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000354858.6_Missense_Mutation_p.A108E|AK2_ENST00000467905.1_Missense_Mutation_p.A108E|AK2_ENST00000548033.1_Missense_Mutation_p.A66E|AK2_ENST00000480134.1_Missense_Mutation_p.A108E|AK2_ENST00000373449.2_Missense_Mutation_p.A108E					adenylate kinase 2									p.A108E(2)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CACCATTTCTGCCTGCCTCAC	0.418																																																2	Substitution - Missense(2)	kidney(2)											46	48	47					1																	33487201		2203	4300	6503	SO:0001583	missense	204			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.323C>A	1.37:g.33487201G>T	ENSP00000446849:p.Ala108Glu			Missense_Mutation	SNP	ENST00000487289.1	37		.	.	.	.	.	.	.	.	.	.	G	32	5.173039	0.94807	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000480134;ENST00000354858;ENST00000398192;ENST00000487289	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	H	0.99958	5.055	0.80722	D	1	D;D;D;D	0.89917	0.999;0.987;1.0;0.999	D;P;D;D	0.77004	0.981;0.81;0.989;0.981	D	0.97478	1.0045	10	0.87932	D	0	-6.1733	20.1745	0.98175	0.0:0.0:1.0:0.0	.	108;66;108;108	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	E	108;66;108;108;108;108;108	ENSP00000362548:A108E;ENSP00000449003:A66E;ENSP00000447082:A108E;ENSP00000450109:A108E;ENSP00000346921:A108E;ENSP00000446849:A108E	ENSP00000346921:A108E	A	-	2	0	AK2	33259788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.366000	0.97143	2.941000	0.99782	0.655000	0.94253	GCA		0.418	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000011889.4	NM_001625		T	33487201	G	T	33487201	3	4	50	1	0	0	0	0	1	0	0	0	440	1319	46	4	421	4	AK2	1	33487201	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08		33487201	215763420	1	3630											
TMEM48	55706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54262374	54262374	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:54262374A>C	ENST00000371429.3	-	13	2170	c.1572T>G	c.(1570-1572)aaT>aaG	p.N524K	NDC1_ENST00000234725.8_Missense_Mutation_p.N409K|NDC1_ENST00000540001.1_Intron|NDC1_ENST00000537333.1_Missense_Mutation_p.N189K	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	524					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.N524K(1)									GTTCACGTTTATTCTGAATCC	0.348																																																1	Substitution - Missense(1)	kidney(1)											101	93	95					1																	54262374		2203	4300	6503	SO:0001583	missense	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1572T>G	1.37:g.54262374A>C	ENSP00000360483:p.Asn524Lys		B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692479	0.68271	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000537333;ENST00000234725	T;T;T	0.40225	1.04;1.04;1.04	5.01	3.88	0.44766	.	0.325460	0.39475	N	0.001358	T	0.46889	0.1416	L	0.51422	1.61	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.63192	0.912;0.886	T	0.45264	-0.9273	10	0.13853	T	0.58	.	5.9936	0.19480	0.7305:0.0:0.2695:0.0	.	484;524	B4DHA3;Q9BTX1	.;NDC1_HUMAN	K	524;407;189;409	ENSP00000360483:N524K;ENSP00000439947:N189K;ENSP00000234725:N409K	ENSP00000234725:N409K	N	-	3	2	TMEM48	54034962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.121000	0.31283	0.944000	0.37579	0.456000	0.33151	AAT		0.348	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		C	54262374	A	C	54262374	3	2	50	1	0	0	0	0	1	0	0	0	16177	446	16	5	476	5	TMEM48	1	54262374	Missense_Mutation	SNP	A	TCGA-A3-3357-01A-02D-1421-08	20775173	54262374	194988247	2	3631											
C1orf56	54964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151021076	151021076	+	Silent	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:151021076A>G	ENST00000368926.5	+	1	861	c.753A>G	c.(751-753)caA>caG	p.Q251Q	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	251						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.Q251Q(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCACCTATCAACAATGTCCCT	0.617											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)											1	Substitution - coding silent(1)	kidney(1)											125	131	129					1																	151021076		2203	4300	6503	SO:0001819	synonymous_variant	54964			BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"methylated in normal thymocytes"					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.753A>G	1.37:g.151021076A>G		1737	B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	CCDS980.1																																																																																				0.617	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		G	151021076	A	G	151021076	2	3	50	1	0	0	0	0	0	0	0	1	2050	40	2	3		3	C1orf56	1	151021076	Silent	SNP	A	TCGA-A3-3357-01A-02D-1421-08	96758702	151021076	98229545	3	3632											
FCRL3	115352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157650775	157650775	+	Silent	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:157650775G>A	ENST00000368184.3	-	12	2244	c.1953C>T	c.(1951-1953)agC>agT	p.S651S	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.S651S	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	651						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S651S(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTCACCATTGCTGTACATTG	0.557																																																1	Substitution - coding silent(1)	kidney(1)											84	73	77					1																	157650775		2203	4300	6503	SO:0001819	synonymous_variant	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1953C>T	1.37:g.157650775G>A			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	CCDS1167.1																																																																																				0.557	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		A	157650775	G	A	157650775	2	1	50	1	0	0	0	0	0	0	0	1	5798	1310	46	2		2	FCRL3	1	157650775	Silent	SNP	G	TCGA-A3-3357-01A-02D-1421-08	6629699	157650775	91599846	4	3633											
SELL	6402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169677787	169677787	+	Silent	SNP	A	A	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:169677787A>T	ENST00000236147.4	-	3	442	c.282T>A	c.(280-282)ccT>ccA	p.P94P	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	81	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.P81P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AACGACTGAAAGGCAGAGTCT	0.448																																																1	Substitution - coding silent(1)	kidney(1)											76	69	71					1																	169677787		1890	4115	6005	SO:0001819	synonymous_variant	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.282T>A	1.37:g.169677787A>T			B2R6Q8|P15023|Q9UJ43	Silent	SNP	ENST00000236147.4	37	CCDS53427.1																																																																																				0.448	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		T	169677787	A	T	169677787	2	4	50	1	0	0	0	0	0	0	0	1	14022	59	3	5		5	SELL	1	169677787	Silent	SNP	A	TCGA-A3-3357-01A-02D-1421-08	12027012	169677787	79572834	5	3634											
TNR	7143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	175299227	175299227	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:175299227C>A	ENST00000367674.2	-	21	4484	c.3776G>T	c.(3775-3777)aGc>aTc	p.S1259I	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.S1259I			Q92752	TENR_HUMAN	tenascin R	1259	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S1259I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCCGTTGTAGCTTCCTATGCG	0.597																																																1	Substitution - Missense(1)	kidney(1)											97	79	85					1																	175299227		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3776G>T	1.37:g.175299227C>A	ENSP00000356646:p.Ser1259Ile		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	8.062	0.768238	0.15983	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.77358	-1.09;-1.09	5.64	-6.85	0.01681	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.438520	0.03958	N	0.289568	T	0.68632	0.3022	L	0.58354	1.805	0.18873	N	0.999988	B	0.23540	0.087	B	0.26770	0.073	T	0.57370	-0.7823	10	0.72032	D	0.01	.	2.4748	0.04573	0.3045:0.1108:0.405:0.1797	.	1259	Q92752	TENR_HUMAN	I	1259;1259;1169	ENSP00000356646:S1259I;ENSP00000263525:S1259I	ENSP00000263525:S1259I	S	-	2	0	TNR	173565850	0.183000	0.23186	0.001000	0.08648	0.008000	0.06430	0.556000	0.23438	-0.827000	0.04278	-1.710000	0.00715	AGC		0.597	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175299227	C	A	175299227	3	1	50	1	0	0	0	0	1	0	0	0	16343	797	28	4	312	4	TNR	1	175299227	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	5621440	175299227	73951394	6	3635											
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186064396	186064396	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:186064396C>G	ENST00000271588.4	+	68	10545	c.10316C>G	c.(10315-10317)tCa>tGa	p.S3439*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S3439*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3439	Ig-like C2-type 33.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S3439*(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGACAATTCAATGGGGACA	0.383																																																1	Substitution - Nonsense(1)	kidney(1)											88	85	86					1																	186064396		2203	4300	6503	SO:0001587	stop_gained	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10316C>G	1.37:g.186064396C>G	ENSP00000271588:p.Ser3439*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	52	19.934389	0.99925	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.2	3.25	0.37280	.	0.208574	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.6125	0.76737	0.0:0.5763:0.4237:0.0	.	.	.	.	X	3439	.	ENSP00000271588:S3439X	S	+	2	0	HMCN1	184331019	0.967000	0.33354	0.479000	0.27329	0.975000	0.68041	2.724000	0.47285	0.511000	0.28236	0.561000	0.74099	TCA		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186064396	C	G	186064396	4	3	50	1	0	0	0	0	0	1	0	0	7222	838	29	4	10586	4	HMCN1	1	186064396	Nonsense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	10765169	186064396	63186225	7	3636											
TAF1A	9015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222743918	222743918	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:222743918T>C	ENST00000352967.4	-	6	882	c.694A>G	c.(694-696)Att>Gtt	p.I232V	TAF1A_ENST00000391882.1_Missense_Mutation_p.I118V|TAF1A_ENST00000350027.4_Missense_Mutation_p.I232V|TAF1A_ENST00000543857.1_Missense_Mutation_p.I232V|TAF1A_ENST00000366890.1_Missense_Mutation_p.I118V|TAF1A_ENST00000465263.1_5'UTR	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	232					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.I232V(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ACTCCAGGAATTTTAATCAAT	0.353																																																1	Substitution - Missense(1)	kidney(1)											85	89	88					1																	222743918		2203	4300	6503	SO:0001583	missense	9015			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.694A>G	1.37:g.222743918T>C	ENSP00000327072:p.Ile232Val		B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028315	0.35797	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.6	5.6	0.85130	.	0.413821	0.28488	N	0.015166	T	0.44644	0.1303	M	0.68952	2.095	0.22378	N	0.999154	B;B	0.33171	0.4;0.081	B;B	0.31101	0.124;0.08	T	0.48927	-0.8991	10	0.48119	T	0.1	.	10.0848	0.42412	0.1499:0.0:0.0:0.8501	.	232;232	B4DS21;Q15573	.;TAF1A_HUMAN	V	118;232;232;118;194;194;232	ENSP00000355856:I118V;ENSP00000339976:I232V;ENSP00000327072:I232V;ENSP00000375754:I118V;ENSP00000375755:I194V;ENSP00000437725:I232V	ENSP00000339976:I232V	I	-	1	0	TAF1A	220810541	1.000000	0.71417	0.971000	0.41717	0.948000	0.59901	3.226000	0.51254	2.131000	0.65755	0.533000	0.62120	ATT		0.353	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		C	222743918	T	C	222743918	3	2	50	1	0	0	0	0	1	0	0	0	15524	1493	52	3	682	3	TAF1A	1	222743918	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08	36679522	222743918	26506703	8	3637											
ZNF496	84838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247463962	247463962	+	Silent	SNP	G	G	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:247463962G>C	ENST00000294753.4	-	9	2087	c.1623C>G	c.(1621-1623)cgC>cgG	p.R541R	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.R577R	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	541					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R541R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAAAGTGGCTGCGGTGCCGAG	0.622																																																1	Substitution - coding silent(1)	kidney(1)											73	76	75					1																	247463962		2203	4300	6503	SO:0001819	synonymous_variant	84838			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1623C>G	1.37:g.247463962G>C			Q8TBS2	Silent	SNP	ENST00000294753.4	37	CCDS1631.1																																																																																				0.622	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		C	247463962	G	C	247463962	2	2	50	1	0	0	0	0	0	0	0	1	17950	1306	46	4		4	ZNF496	1	247463962	Silent	SNP	G	TCGA-A3-3357-01A-02D-1421-08	24720044	247463962	1786659	9	3638											
GCC2	9648	hgsc.bcm.edu;ucsc.edu	37	2	109104197	109104197	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:109104197delG	ENST00000309863.6	+	17	4687	c.3973delG	c.(3973-3975)gtcfs	p.V1325fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1325					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGCTACAAAGTCCGAGTTCA	0.353																																																0													88	93	91					2																	109104197		2203	4300	6503	SO:0001589	frameshift_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3973delG	2.37:g.109104197delG	ENSP00000307939:p.Val1325fs		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Del	DEL	ENST00000309863.6	37	CCDS33268.1																																																																																				0.353	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		-	109104197	G	-	109104197	7	5	50	1	0	1	0	1	0	0	0	0	6288	1029	36	0	4039	0	GCC2	2	109104197	Frame_Shift_Del	DEL	G	TCGA-A3-3357-01A-02D-1421-08		109104197	134095176	10	3639											
IFIH1	64135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	163144684	163144684	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:163144684T>G	ENST00000263642.2	-	5	1451	c.1056A>C	c.(1054-1056)aaA>aaC	p.K352N		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	352	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.K352N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GCTCAGATGCTTTTTTCTTCT	0.368																																																1	Substitution - Missense(1)	kidney(1)											109	109	109					2																	163144684		2203	4300	6503	SO:0001583	missense	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1056A>C	2.37:g.163144684T>G	ENSP00000263642:p.Lys352Asn		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.676837	0.29783	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05447	3.44	5.96	1.02	0.19986	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.271763	0.44688	D	0.000437	T	0.02888	0.0086	N	0.16708	0.43	0.30048	N	0.812052	P	0.36633	0.562	B	0.32928	0.155	T	0.43228	-0.9404	10	0.18710	T	0.47	-6.4199	5.33	0.15928	0.1174:0.266:0.0:0.6166	.	352	Q9BYX4	IFIH1_HUMAN	N	352	ENSP00000263642:K352N	ENSP00000263642:K352N	K	-	3	2	IFIH1	162852930	0.000000	0.05858	0.619000	0.29118	0.910000	0.53928	0.278000	0.18753	-0.045000	0.13468	-0.924000	0.02725	AAA		0.368	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		G	163144684	T	G	163144684	3	3	50	1	0	0	0	0	1	0	0	0	7522	1606	56	5	2069	5	IFIH1	2	163144684	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08	54040487	163144684	80054689	11	3640											
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	168104032	168104032	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:168104032A>G	ENST00000409195.1	+	9	6219	c.6130A>G	c.(6130-6132)Aga>Gga	p.R2044G	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1822G|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2044G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1869					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R2044G(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAAGCCTTAGAAGACTATC	0.393																																																1	Substitution - Missense(1)	kidney(1)											72	67	68					2																	168104032		1849	4090	5939	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6130A>G	2.37:g.168104032A>G	ENSP00000386840:p.Arg2044Gly		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846026	0.51164	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.23147	1.92;1.92;1.92	5.73	4.52	0.55395	.	0.419180	0.26349	N	0.024895	T	0.45418	0.1341	M	0.65975	2.015	0.29502	N	0.854863	D;D;D	0.76494	0.958;0.986;0.999	P;P;D	0.63283	0.477;0.797;0.913	T	0.44817	-0.9303	10	0.62326	D	0.03	-18.5172	13.3394	0.60537	0.8601:0.1399:0.0:0.0	.	1869;1869;1822	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	G	2044;2044;1822	ENSP00000386840:R2044G;ENSP00000295237:R2044G;ENSP00000387255:R1822G	ENSP00000295237:R2044G	R	+	1	2	XIRP2	167812278	0.897000	0.30589	0.998000	0.56505	0.980000	0.70556	2.541000	0.45735	2.195000	0.70347	0.528000	0.53228	AGA		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		G	168104032	A	G	168104032	3	3	50	1	0	0	0	0	1	0	0	0	17435	412	15	3	6160	3	XIRP2	2	168104032	Missense_Mutation	SNP	A	TCGA-A3-3357-01A-02D-1421-08	4959348	168104032	75095341	12	3641											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179466064	179466064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:179466064G>A	ENST00000591111.1	-	237	50961	c.50737C>T	c.(50737-50739)Cga>Tga	p.R16913*	TTN_ENST00000460472.2_Nonsense_Mutation_p.R9489*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R9614*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R15986*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R18554*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R9681*			Q8WZ42	TITIN_HUMAN	titin	16913	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R15986*(4)|p.R9489*(2)|p.R9614*(2)|p.R9681*(2)		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)			TTTTCTGCTCGCACACGGAAG	0.428																																																10	Substitution - Nonsense(10)	endometrium(5)|kidney(5)											102	97	98					2																	179466064		1904	4119	6023	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50737C>T	2.37:g.179466064G>A	ENSP00000465570:p.Arg16913*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	60	45.728998	0.99987	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.85	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8973	0.63781	0.0:0.0:0.5991:0.4009	.	.	.	.	X	15986;9489;9681;9614;9489	.	ENSP00000340554:R9681X	R	-	1	2	TTN	179174309	0.993000	0.37304	0.993000	0.49108	0.985000	0.73830	2.179000	0.42528	0.772000	0.33382	-0.309000	0.09137	CGA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179466064	G	A	179466064	4	1	50	1	0	0	0	0	0	1	0	0	16740	1095	38	1	52337	1	TTN	2	179466064	Nonsense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	11362032	179466064	63733309	13	3642											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179571302	179571302	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:179571302C>A	ENST00000591111.1	-	100	28572	c.28348G>T	c.(28348-28350)Ggg>Tgg	p.G9450W	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G8523W|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G9767W|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13546	Ig-like 77.				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)	p.G8523W(1)		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)			CGGTATAACCCAGAATCAGTT	0.423																																																1	Substitution - Missense(1)	kidney(1)											184	176	179					2																	179571302		1915	4135	6050	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28348G>T	2.37:g.179571302C>A	ENSP00000465570:p.Gly9450Trp		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	12.16	1.853908	0.32791	.	.	ENSG00000155657	ENST00000342992	T	0.77877	-1.13	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93077	0.7796	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94705	0.7887	9	0.87932	D	0	.	20.3129	0.98645	0.0:1.0:0.0:0.0	.	9450	Q8WZ42	TITIN_HUMAN	W	8523	ENSP00000343764:G8523W	ENSP00000343764:G8523W	G	-	1	0	TTN	179279547	1.000000	0.71417	0.990000	0.47175	0.037000	0.13140	7.818000	0.86416	2.800000	0.96347	0.650000	0.86243	GGG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179571302	C	A	179571302	3	1	50	1	0	0	0	0	1	0	0	0	16740	594	21	4	75274	4	TTN	2	179571302	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	105238	179571302	63628071	14	3643											
OBFC2A	64859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	192546733	192546733	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:192546733A>C	ENST00000425611.2	+	3	375	c.292A>C	c.(292-294)Aaa>Caa	p.K98Q	NABP1_ENST00000409510.1_Missense_Mutation_p.K18Q|NABP1_ENST00000410026.2_Missense_Mutation_p.K18Q	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	98					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.K98Q(1)									TGAACTTCAAAAAATTGGGGA	0.308																																																1	Substitution - Missense(1)	kidney(1)											58	61	60					2																	192546733		2203	4294	6497	SO:0001583	missense	0			BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"single-stranded DNA-binding protein 2", "sensor of single-strand DNA complex subunit B2"	612103	"oligonucleotide/oligosaccharide-binding fold containing 2A"	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.292A>C	2.37:g.192546733A>C	ENSP00000403683:p.Lys98Gln		Q658Y8|Q9H5X6	Missense_Mutation	SNP	ENST00000425611.2	37	CCDS33352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.530230|4.530230	0.85706|0.85706	.|.	.|.	ENSG00000173559|ENSG00000173559	ENST00000435931|ENST00000410026;ENST00000409510;ENST00000425611	.|T;T;T	.|0.34472	.|1.36;1.36;1.36	5.76|5.76	4.55|4.55	0.56014|0.56014	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.054326|0.054326	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.64170|0.64170	0.2574|0.2574	M|M	0.88181|0.88181	2.935|2.935	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;0.995	.|D;D	.|0.76575	.|0.988;0.957	T|T	0.71632|0.71632	-0.4534|-0.4534	6|10	.|0.87932	.|D	.|0	.|.	12.6211|12.6211	0.56603|0.56603	0.8619:0.1381:0.0:0.0|0.8619:0.1381:0.0:0.0	.|.	.|18;98	.|Q96AH0-2;Q96AH0	.|.;SOSB2_HUMAN	N|Q	67|18;18;98	.|ENSP00000387243:K18Q;ENSP00000386605:K18Q;ENSP00000403683:K98Q	.|ENSP00000310819:K18Q	K|K	+|+	3|1	2|0	OBFC2A|OBFC2A	192254978|192254978	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.996000|0.996000	0.88848|0.88848	7.365000|7.365000	0.79537|0.79537	2.202000|2.202000	0.70862|0.70862	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.308	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837		C	192546733	A	C	192546733	3	2	50	1	0	0	0	0	1	0	0	0	10810	15	1	5	302	5	OBFC2A	2	192546733	Missense_Mutation	SNP	A	TCGA-A3-3357-01A-02D-1421-08	12975431	192546733	50652640	15	3644											
COL4A4	1286	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	227919340	227919340	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:227919340G>T	ENST00000396625.3	-	31	3037	c.2830C>A	c.(2830-2832)Cct>Act	p.P944T	COL4A4_ENST00000329662.7_Missense_Mutation_p.P944T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	944	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P944T(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CGGTCTCCAGGAAGGCCAGAC	0.512																																																1	Substitution - Missense(1)	kidney(1)											98	104	102					2																	227919340		1902	4118	6020	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2830C>A	2.37:g.227919340G>T	ENSP00000379866:p.Pro944Thr		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	9.761	1.170109	0.21621	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96651	-4.08;-4.08	5.54	0.414	0.16406	.	.	.	.	.	D	0.92341	0.7570	L	0.52266	1.64	0.09310	N	1	B	0.20164	0.042	B	0.26202	0.067	T	0.82208	-0.0571	9	0.33141	T	0.24	.	1.8222	0.03113	0.2012:0.1129:0.4542:0.2316	.	944	P53420	CO4A4_HUMAN	T	944	ENSP00000379866:P944T;ENSP00000328553:P944T	ENSP00000328553:P944T	P	-	1	0	COL4A4	227627584	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.234000	0.17930	-0.224000	0.09928	0.650000	0.86243	CCT		0.512	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		T	227919340	G	T	227919340	3	4	50	1	0	0	0	0	1	0	0	0	3695	1174	41	4	2314	4	COL4A4	2	227919340	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	35372607	227919340	15280033	16	3645											
GIGYF2	26058	hgsc.bcm.edu;ucsc.edu	37	2	233708765	233708767	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:233708765_233708767delCAG	ENST00000409547.1	+	26	3210_3212	c.2899_2901delCAG	c.(2899-2901)cagdel	p.Q968del	GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q968del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q990del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q990del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q989del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q962del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.A810del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	968	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAAAGGCGCCAGCAGAGGGAGT	0.419																																																0																																										SO:0001651	inframe_deletion	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2899_2901delCAG	2.37:g.233708768_233708770delCAG	ENSP00000386537:p.Gln968del		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	CCDS33401.1																																																																																				0.419	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		-	233708767	CAG	-	233708765	7	5	50	1	0	1	0	1	0	0	0	0	6380	595	21	0	3055	0	GIGYF2	2	233708765	In_Frame_Del	DEL	CAG	TCGA-A3-3357-01A-02D-1421-08	5789425	233708765	9490608	17	3646											
RFTN1	23180	broad.mit.edu;ucsc.edu	37	3	16535237	16535237	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:16535237C>A	ENST00000334133.4	-	2	412	c.140G>T	c.(139-141)aGt>aTt	p.S47I		NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	47					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.S47I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTCACCAGCACTCAGAGTCGT	0.557																																																1	Substitution - Missense(1)	kidney(1)											160	165	163					3																	16535237		2203	4300	6503	SO:0001583	missense	23180			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.140G>T	3.37:g.16535237C>A	ENSP00000334153:p.Ser47Ile		Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433903	0.43224	.	.	ENSG00000131378	ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T	0.46451	1.44;0.87	5.44	-1.2	0.09554	.	0.399100	0.25442	N	0.030650	T	0.34164	0.0888	L	0.29908	0.895	0.19300	N	0.999978	D	0.53462	0.96	P	0.49276	0.605	T	0.35101	-0.9802	10	0.72032	D	0.01	-3.0974	10.0583	0.42259	0.0:0.2858:0.5383:0.1758	.	47	Q14699	RFTN1_HUMAN	I	47	ENSP00000334153:S47I;ENSP00000403997:S47I	ENSP00000334153:S47I	S	-	2	0	RFTN1	16510241	0.556000	0.26538	0.091000	0.20842	0.511000	0.34104	0.841000	0.27613	-0.006000	0.14370	0.561000	0.74099	AGT		0.557	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		A	16535237	C	A	16535237	3	1	50	1	0	0	0	0	1	0	0	0	13264	565	20	4	1632	4	RFTN1	3	16535237	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08		16535237	181487193	18	3647											
ARHGAP31	57514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	119099820	119099820	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:119099820C>G	ENST00000264245.4	+	4	950	c.418C>G	c.(418-420)Cca>Gca	p.P140A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	140	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.P140A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGCTTCCTCCATCCCACTA	0.493																																					Pancreas(7;176 297 5394 51128 51241)											1	Substitution - Missense(1)	kidney(1)											88	90	89					3																	119099820		1999	4178	6177	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.418C>G	3.37:g.119099820C>G	ENSP00000264245:p.Pro140Ala		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106853	0.37145	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.19105	2.17;2.17	5.18	5.18	0.71444	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.173964	0.40385	N	0.001102	T	0.23171	0.0560	L	0.43701	1.375	0.38586	D	0.95029	B	0.19706	0.038	B	0.28638	0.092	T	0.04796	-1.0926	10	0.46703	T	0.11	.	16.0098	0.80391	0.0:1.0:0.0:0.0	.	140	Q2M1Z3	RHG31_HUMAN	A	140;140;111	ENSP00000264245:P140A;ENSP00000418429:P111A	ENSP00000264245:P140A	P	+	1	0	ARHGAP31	120582510	0.981000	0.34729	0.998000	0.56505	0.936000	0.57629	2.401000	0.44513	2.688000	0.91661	0.591000	0.81541	CCA		0.493	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			G	119099820	C	G	119099820	3	3	50	1	0	0	0	0	1	0	0	0	880	855	30	4	432	4	ARHGAP31	3	119099820	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	102564583	119099820	78922610	19	3648											
COPG	22820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128986841	128986841	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:128986841G>C	ENST00000314797.6	+	16	1710	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	536					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.E536Q(1)									AAATGTCCTGGAGCAGAAGCA	0.517																																																1	Substitution - Missense(1)	kidney(1)											163	134	144					3																	128986841		2203	4300	6503	SO:0001583	missense	0			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1606G>C	3.37:g.128986841G>C	ENSP00000325002:p.Glu536Gln		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	6.810	0.518455	0.13005	.	.	ENSG00000181789	ENST00000314797	T	0.25912	1.77	6.17	2.3	0.28687	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.066625	0.64402	D	0.000009	T	0.11665	0.0284	N	0.02842	-0.48	0.37493	D	0.916457	B	0.14438	0.01	B	0.17433	0.018	T	0.10753	-1.0616	10	0.12766	T	0.61	-10.3606	17.2381	0.87005	0.0:0.4855:0.5145:0.0	.	536	Q9Y678	COPG_HUMAN	Q	536	ENSP00000325002:E536Q	ENSP00000325002:E536Q	E	+	1	0	COPG	130469531	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	5.881000	0.69706	0.148000	0.19059	-0.165000	0.13383	GAG		0.517	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		C	128986841	G	C	128986841	3	2	50	1	0	0	0	0	1	0	0	0	3733	1175	41	4	1668	4	COPG	3	128986841	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	9887021	128986841	69035589	20	3649											
COL6A5	256076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130162331	130162331	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:130162331C>G	ENST00000432398.2	+	36	6993	c.6499C>G	c.(6499-6501)Cag>Gag	p.Q2167E	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q2167E	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2167	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q2167E(1)|p.Q206E(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGGATTCAATCAGTACCCACC	0.378																																																2	Substitution - Missense(2)	kidney(2)											91	87	88					3																	130162331		1845	4097	5942	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6499C>G	3.37:g.130162331C>G	ENSP00000390895:p.Gln2167Glu		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.193|7.193	0.591915|0.591915	0.13812|0.13812	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	T;T;T;T|.	0.78126|.	2.63;2.63;2.63;-1.15|.	4.67|4.67	0.0711|0.0711	0.14381|0.14381	.|.	0.870695|.	0.09683|.	N|.	0.769517|.	T|.	0.32466|.	0.0830|.	L|L	0.43152|0.43152	1.355|1.355	0.19575|0.19575	N|N	0.999967|0.999967	B;B|.	0.16396|.	0.01;0.017|.	B;B|.	0.12156|.	0.005;0.007|.	T|.	0.28235|.	-1.0050|.	10|.	0.02654|.	T|.	1|.	.|.	2.9342|2.9342	0.05809|0.05809	0.2996:0.453:0.1472:0.1002|0.2996:0.453:0.1472:0.1002	.|.	2167;2167|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	E|X	2167;2167;110;2|418	ENSP00000390895:Q2167E;ENSP00000265379:Q2167E;ENSP00000362250:Q110E;ENSP00000424968:Q2E|.	ENSP00000265379:Q2167E|.	Q|S	+|+	1|2	0|0	COL6A5|COL6A5	131645021|131645021	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.810000|0.810000	0.45777|0.45777	0.120000|0.120000	0.15647|0.15647	0.187000|0.187000	0.20147|0.20147	0.544000|0.544000	0.68410|0.68410	CAG|TCA		0.378	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		G	130162331	C	G	130162331	3	3	50	1	0	0	0	0	1	0	0	0	3704	827	29	4	6637	4	COL6A5	3	130162331	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	1175490	130162331	67860099	21	3650											
TBL1XR1	79718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	176768295	176768295	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:176768295C>A	ENST00000430069.1	-	6	790	c.531G>T	c.(529-531)tgG>tgT	p.W177C	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Missense_Mutation_p.W177C			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	177					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.W177C(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TAACAGGGTTCCAGGCACAGA	0.363																																																1	Substitution - Missense(1)	kidney(1)											77	74	75					3																	176768295		1894	4109	6003	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.531G>T	3.37:g.176768295C>A	ENSP00000405574:p.Trp177Cys		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756483	0.89843	.	.	ENSG00000177565	ENST00000430069;ENST00000457928	T;T	0.66280	-0.2;-0.2	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.061047	0.64402	D	0.000001	T	0.77592	0.4153	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78568	-0.2154	10	0.87932	D	0	-9.6084	18.8249	0.92114	0.0:1.0:0.0:0.0	.	177	Q9BZK7	TBL1R_HUMAN	C	177	ENSP00000405574:W177C;ENSP00000413251:W177C	ENSP00000405574:W177C	W	-	3	0	TBL1XR1	178250989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.683000	0.84093	2.770000	0.95276	0.655000	0.94253	TGG		0.363	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		A	176768295	C	A	176768295	3	1	50	1	0	0	0	0	1	0	0	0	15645	856	30	4	1057	4	TBL1XR1	3	176768295	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	46605964	176768295	21254135	22	3651											
PIK3CA	5290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	178952090	178952090	+	Missense_Mutation	SNP	G	G	C	rs121913277		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:178952090G>C	ENST00000263967.3	+	21	3302	c.3145G>C	c.(3145-3147)Ggt>Cgt	p.G1049R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1049	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> S (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G1049R(27)|p.G1049S(13)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGCACATCATGGTGGCTGGAC	0.378		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	40	Substitution - Missense(40)	breast(12)|endometrium(7)|lung(4)|thyroid(3)|large_intestine(3)|central_nervous_system(3)|upper_aerodigestive_tract(2)|urinary_tract(2)|kidney(2)|ovary(1)|pancreas(1)											98	88	91					3																	178952090		1919	4132	6051	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3145G>C	3.37:g.178952090G>C	ENSP00000263967:p.Gly1049Arg		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697316	0.30142	.	.	ENSG00000121879	ENST00000263967	T	0.80824	-1.42	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	L	0.48642	1.525	0.80722	D	1	B	0.30914	0.3	B	0.28916	0.096	T	0.73668	-0.3910	10	0.41790	T	0.15	-16.0151	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1049	P42336	PK3CA_HUMAN	R	1049	ENSP00000263967:G1049R	ENSP00000263967:G1049R	G	+	1	0	PIK3CA	180434784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	GGT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			C	178952090	G	C	178952090	3	2	50	1	0	0	0	0	1	0	0	0	11915	1348	47	4	3223	4	PIK3CA	3	178952090	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	2183795	178952090	19070340	23	3652											
EIF4A2	1974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186505363	186505363	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:186505363C>T	ENST00000323963.5	+	9	1053	c.989C>T	c.(988-990)aCt>aTt	p.T330I	EIF4A2_ENST00000440191.2_Missense_Mutation_p.T331I|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.T235I|SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORD2_ENST00000459163.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	330	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.T330I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CTGATCACTACTGACTTGTTG	0.398			T	BCL6	NHL																																		Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	1	Substitution - Missense(1)	kidney(1)											143	136	138					3																	186505363		2203	4300	6503	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.989C>T	3.37:g.186505363C>T	ENSP00000326381:p.Thr330Ile		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552823	0.86127	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.12465	2.68;2.68;2.68	5.12	5.12	0.69794	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	H	0.97682	4.055	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.998;0.983;0.999;0.999	T	0.70245	-0.4925	10	0.87932	D	0	.	16.4407	0.83900	0.0:1.0:0.0:0.0	.	186;235;331;330	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	I	330;331;235	ENSP00000326381:T330I;ENSP00000398370:T331I;ENSP00000348925:T235I	ENSP00000326381:T330I	T	+	2	0	EIF4A2	187988057	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.219000	0.78000	2.826000	0.97356	0.563000	0.77884	ACT		0.398	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		T	186505363	C	T	186505363	3	4	50	1	0	0	0	0	1	0	0	0	5027	565	20	2	1023	2	EIF4A2	3	186505363	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	7553273	186505363	11517067	24	3653											
OPA1	4976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	193366636	193366636	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:193366636T>C	ENST00000392438.3	+	19	2057	c.1823T>C	c.(1822-1824)cTg>cCg	p.L608P	OPA1_ENST00000361828.2_Missense_Mutation_p.L626P|OPA1_ENST00000361715.2_Missense_Mutation_p.L627P|OPA1_ENST00000361150.2_Missense_Mutation_p.L609P|OPA1_ENST00000361908.3_Missense_Mutation_p.L645P|OPA1_ENST00000361510.2_Missense_Mutation_p.L663P	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	608					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.L663P(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTTATCAGTCTGAGCCAGGTT	0.289																																																1	Substitution - Missense(1)	kidney(1)											94	104	100					3																	193366636		2203	4297	6500	SO:0001583	missense	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1823T>C	3.37:g.193366636T>C	ENSP00000376233:p.Leu608Pro		D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.688593	0.88639	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.97665	-4.1;-4.09;-4.02;-4.06;-4.12;-4.48	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.996;0.998;0.996;0.996;0.999;0.998;0.998;0.998	D	0.99260	1.0890	10	0.87932	D	0	-8.652	15.825	0.78698	0.0:0.0:0.0:1.0	.	572;608;590;609;626;645;627;663	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	P	645;608;663;627;626;609	ENSP00000354681:L645P;ENSP00000376233:L608P;ENSP00000355324:L663P;ENSP00000355311:L627P;ENSP00000354429:L626P;ENSP00000354781:L609P	ENSP00000354781:L609P	L	+	2	0	OPA1	194849330	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.333000	0.79357	0.533000	0.62120	CTG		0.289	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		C	193366636	T	C	193366636	3	2	50	1	0	0	0	0	1	0	0	0	10873	1580	55	3	2070	3	OPA1	3	193366636	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08	6861273	193366636	4655794	25	3654											
RNF4	6047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2515531	2515531	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:2515531C>A	ENST00000511600.1	+	8	2073	c.558C>A	c.(556-558)caC>caA	p.H186Q	RNF4_ENST00000541204.1_Missense_Mutation_p.H186Q|RNF4_ENST00000314289.8_Missense_Mutation_p.H186Q|RNF4_ENST00000506706.1_Missense_Mutation_p.H186Q|RNF4_ENST00000511859.1_3'UTR			P78317	RNF4_HUMAN	ring finger protein 4	186					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H220Q(1)		endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				AACGGTACCACCCCATTTATA	0.488																																																1	Substitution - Missense(1)	kidney(1)											107	105	105					4																	2515531		1908	4124	6032	SO:0001583	missense	6047			U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"RING-type (C3HC4) zinc fingers"	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.558C>A	4.37:g.2515531C>A	ENSP00000426503:p.His186Gln		B2R6D6|D6RF58|Q49AR8	Missense_Mutation	SNP	ENST00000511600.1	37	CCDS47001.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362325	0.61403	.	.	ENSG00000063978	ENST00000314289;ENST00000541204;ENST00000502316;ENST00000506706;ENST00000511600	T;T;T;T;T	0.55413	0.63;0.6;0.52;0.63;0.63	5.32	3.28	0.37604	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	M	0.72624	2.21	0.58432	D	0.999997	P	0.36599	0.56	B	0.31547	0.132	T	0.38415	-0.9662	10	0.34782	T	0.22	-26.3441	6.8891	0.24220	0.0:0.6973:0.0:0.3027	.	186	P78317	RNF4_HUMAN	Q	186	ENSP00000315212:H186Q;ENSP00000446369:H186Q;ENSP00000423100:H186Q;ENSP00000424076:H186Q;ENSP00000426503:H186Q	ENSP00000315212:H186Q	H	+	3	2	RNF4	2485329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.424000	0.44714	1.214000	0.43395	0.655000	0.94253	CAC		0.488	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360920.1	NM_002938		A	2515531	C	A	2515531	3	1	50	1	0	0	0	0	1	0	0	0	13498	506	18	4	584	4	RNF4	4	2515531	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08		2515531	188638745	26	3655											
SEPSECS	51091	broad.mit.edu	37	4	25160704	25160704	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:25160704T>C	ENST00000382103.2	-	2	212	c.140A>G	c.(139-141)gAt>gGt	p.D47G	PI4K2B_ENST00000512921.1_5'Flank|SEPSECS_ENST00000302922.3_Intron	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	47					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)	p.D47G(2)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				TGTACTTTCATCCCAGCCATT	0.363																																																2	Substitution - Missense(2)	prostate(1)|kidney(1)											118	108	111					4																	25160704		1865	4098	5963	SO:0001583	missense	51091			AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"soluble liver antigen/liver pancreas antigen"	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.140A>G	4.37:g.25160704T>C	ENSP00000371535:p.Asp47Gly		A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137631	0.37728	.	.	ENSG00000109618	ENST00000382103;ENST00000513285	D;D	0.81908	-1.55;-1.55	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major domain (1);	0.188853	0.56097	D	0.000029	D	0.84257	0.5432	M	0.72894	2.215	0.80722	D	1	B;B	0.25904	0.137;0.028	B;B	0.32533	0.147;0.008	T	0.82750	-0.0303	10	0.56958	D	0.05	-2.1426	15.9715	0.80025	0.0:0.0:0.0:1.0	.	46;47	Q9HD40-3;Q9HD40	.;SPCS_HUMAN	G	47;132	ENSP00000371535:D47G;ENSP00000423361:D132G	ENSP00000371535:D47G	D	-	2	0	SEPSECS	24769802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.862000	0.48388	2.165000	0.68154	0.528000	0.53228	GAT		0.363	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		C	25160704	T	C	25160704	3	2	50	1	0	0	0	0	1	0	0	0	14064	1435	50	3	1405	3	SEPSECS	4	25160704	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08	22645173	25160704	165993572	27	3656											
RFC1	5981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	39324978	39324978	+	Silent	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:39324978T>C	ENST00000381897.1	-	7	835	c.702A>G	c.(700-702)gaA>gaG	p.E234E	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Silent_p.E234E	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	234					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.E234E(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCTTGGGTTCTTCATCCAACA	0.423																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											1	Substitution - coding silent(1)	kidney(1)											215	172	187					4																	39324978		2203	4300	6503	SO:0001819	synonymous_variant	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.702A>G	4.37:g.39324978T>C			A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	ENST00000381897.1	37	CCDS56329.1																																																																																				0.423	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		C	39324978	T	C	39324978	2	2	50	1	0	0	0	0	0	0	0	1	13250	1606	56	3		3	RFC1	4	39324978	Silent	SNP	T	TCGA-A3-3357-01A-02D-1421-08	14164274	39324978	151829298	28	3657											
FIP1L1	81608	hgsc.bcm.edu;ucsc.edu	37	4	54256754	54256755	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:54256754_54256755insAG	ENST00000337488.6	+	7	658_659	c.464_465insAG	c.(463-468)gtagatfs	p.D156fs	FIP1L1_ENST00000358575.5_Frame_Shift_Ins_p.D141fs|FIP1L1_ENST00000507922.1_Frame_Shift_Ins_p.D141fs|FIP1L1_ENST00000507166.1_Frame_Shift_Ins_p.D156fs|FIP1L1_ENST00000306932.6_Frame_Shift_Ins_p.D141fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	156	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCTTAGAGGTAGATTTGGATT	0.332			T	PDGFRA	idiopathic hypereosinophilic syndrome																																		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0																																										SO:0001589	frameshift_variant	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.465_466dupAG	4.37:g.54256755_54256756dupAG	ENSP00000336752:p.Asp156fs		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Ins	INS	ENST00000337488.6	37	CCDS3491.1																																																																																				0.332	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		AG	54256755	-	AG	54256754	7	5	50	1	0	1	1	0	0	0	0	0	5898	1638	57	0	490	0	FIP1L1	4	54256754	Frame_Shift_Ins	INS	-	TCGA-A3-3357-01A-02D-1421-08	14931776	54256754	136897522	29	3658											
CEP135	9662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	56890684	56890684	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:56890684A>C	ENST00000257287.4	+	25	3462	c.3338A>C	c.(3337-3339)gAg>gCg	p.E1113A		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1113					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.E1113A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GCAATCCAAGAGATGCGTCGA	0.388																																																1	Substitution - Missense(1)	kidney(1)											217	204	208					4																	56890684		2203	4300	6503	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3338A>C	4.37:g.56890684A>C	ENSP00000257287:p.Glu1113Ala		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308644	0.81247	.	.	ENSG00000174799	ENST00000257287	T	0.15834	2.39	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.79475	2.455	0.53005	D	0.999969	D	0.89917	1.0	D	0.87578	0.998	T	0.42666	-0.9438	10	0.59425	D	0.04	.	15.851	0.78930	1.0:0.0:0.0:0.0	.	1113	Q66GS9	CP135_HUMAN	A	1113	ENSP00000257287:E1113A	ENSP00000257287:E1113A	E	+	2	0	CEP135	56585441	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.757000	0.74924	2.151000	0.67156	0.528000	0.53228	GAG		0.388	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		C	56890684	A	C	56890684	3	2	50	1	0	0	0	0	1	0	0	0	3249	304	11	5	3432	5	CEP135	4	56890684	Missense_Mutation	SNP	A	TCGA-A3-3357-01A-02D-1421-08	2633930	56890684	134263592	30	3659											
HELQ	113510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	84374451	84374451	+	Silent	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:84374451A>C	ENST00000295488.3	-	2	1107	c.945T>G	c.(943-945)ccT>ccG	p.P315P	MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000510985.1_Silent_p.P315P|HELQ_ENST00000440639.2_5'Flank|MRPS18C_ENST00000507019.1_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	315					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.P315P(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATGAATAAAAAGGACCAAGGT	0.323								Other identified genes with known or suspected DNA repair function																																								1	Substitution - coding silent(1)	kidney(1)											75	80	79					4																	84374451		2203	4300	6503	SO:0001819	synonymous_variant	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.945T>G	4.37:g.84374451A>C			Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	CCDS3603.1																																																																																				0.323	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		C	84374451	A	C	84374451	2	2	50	1	0	0	0	0	0	0	0	1	7049	59	3	5		5	HELQ	4	84374451	Silent	SNP	A	TCGA-A3-3357-01A-02D-1421-08	27483767	84374451	106779825	31	3660											
ADAMTS12	81792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33751536	33751536	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:33751536delT	ENST00000504830.1	-	3	942	c.607delA	c.(607-609)accfs	p.T203fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.T203fs|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Frame_Shift_Del_p.T203fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	203					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCTCCTTGGTTTCTGGAACT	0.448										HNSCC(64;0.19)																																						0													143	141	142					5																	33751536		2203	4300	6503	SO:0001589	frameshift_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.607delA	5.37:g.33751536delT	ENSP00000422554:p.Thr203fs		A2RRN9|A5D6V6|Q6UWL3	Frame_Shift_Del	DEL	ENST00000504830.1	37	CCDS34140.1																																																																																				0.448	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		-	33751536	T	-	33751536	7	5	50	1	0	1	0	1	0	0	0	0	257	1725	60	0	4265	0	ADAMTS12	5	33751536	Frame_Shift_Del	DEL	T	TCGA-A3-3357-01A-02D-1421-08		33751536	147163724	32	3661											
GCNT4	51301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	74325838	74325838	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:74325838T>G	ENST00000322348.4	-	1	886	c.25A>C	c.(25-27)Aaa>Caa	p.K9Q		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	9					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.K9Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AGGGTATGTTTAAAATAACAT	0.343																																																1	Substitution - Missense(1)	kidney(1)											90	107	101					5																	74325838		2164	4165	6329	SO:0001583	missense	51301			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.25A>C	5.37:g.74325838T>G	ENSP00000317027:p.Lys9Gln			Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510415	0.64522	.	.	ENSG00000176928	ENST00000322348	T	0.09445	2.98	5.95	5.95	0.96441	.	0.422650	0.15532	U	0.257448	T	0.14056	0.0340	L	0.50333	1.59	0.27644	N	0.947637	P	0.45902	0.868	B	0.39876	0.312	T	0.08371	-1.0725	10	0.46703	T	0.11	-4.529	16.4237	0.83790	0.0:0.0:0.0:1.0	.	9	Q9P109	GCNT4_HUMAN	Q	9	ENSP00000317027:K9Q	ENSP00000317027:K9Q	K	-	1	0	GCNT4	74361594	0.994000	0.37717	0.999000	0.59377	0.981000	0.71138	2.621000	0.46418	2.279000	0.76181	0.533000	0.62120	AAA		0.343	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		G	74325838	T	G	74325838	3	3	50	1	0	0	0	0	1	0	0	0	6305	1763	61	5	1340	5	GCNT4	5	74325838	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08	40574302	74325838	106589422	33	3662											
FCHSD1	89848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141025713	141025713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:141025713C>A	ENST00000435817.2	-	12	1140	c.1090G>T	c.(1090-1092)Gag>Tag	p.E364*	FCHSD1_ENST00000522783.1_Intron|FCHSD1_ENST00000522126.1_Nonsense_Mutation_p.E288*|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	364								p.E364*(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGAGCCTCCCGCTCTGAA	0.587																																																1	Substitution - Nonsense(1)	kidney(1)											51	48	49					5																	141025713		2036	4184	6220	SO:0001587	stop_gained	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1090G>T	5.37:g.141025713C>A	ENSP00000399259:p.Glu364*		Q6UX75|Q86Y77|Q9NXX8	Nonsense_Mutation	SNP	ENST00000435817.2	37	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004153	0.74932	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000518499	.	.	.	5.6	5.6	0.85130	.	0.149257	0.46442	D	0.000284	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-17.4633	12.5484	0.56214	0.0:0.9231:0.0:0.0769	.	.	.	.	X	364;288;47	.	ENSP00000399259:E364X	E	-	1	0	FCHSD1	141005897	0.988000	0.35896	1.000000	0.80357	0.182000	0.23217	3.321000	0.51999	2.637000	0.89404	0.455000	0.32223	GAG		0.587	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		A	141025713	C	A	141025713	4	1	50	1	0	0	0	0	0	1	0	0	5791	864	30	4	1018	4	FCHSD1	5	141025713	Nonsense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	66699875	141025713	39889547	34	3663											
PCDH1	5097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141243421	141243421	+	Silent	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:141243421G>A	ENST00000394536.3	-	3	2614	c.2475C>T	c.(2473-2475)ctC>ctT	p.L825L	PCDH1_ENST00000536585.1_Silent_p.L803L|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000287008.3_Silent_p.L825L|PCDH1_ENST00000456271.1_Silent_p.L813L	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	825	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L825L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGTGGCCCAGGAGGGTCTCCA	0.582																																					Ovarian(132;1609 1739 4190 14731 45037)											1	Substitution - coding silent(1)	kidney(1)											69	71	71					5																	141243421		2203	4300	6503	SO:0001819	synonymous_variant	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2475C>T	5.37:g.141243421G>A			Q8IUP2	Silent	SNP	ENST00000394536.3	37	CCDS43375.1																																																																																				0.582	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		A	141243421	G	A	141243421	2	1	50	1	0	0	0	0	0	0	0	1	11508	1161	41	2		2	PCDH1	5	141243421	Silent	SNP	G	TCGA-A3-3357-01A-02D-1421-08	217708	141243421	39671839	35	3664											
DPYSL3	1809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	146792202	146792202	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:146792202A>G	ENST00000398514.3	-	6	961	c.590T>C	c.(589-591)gTt>gCt	p.V197A	DPYSL3_ENST00000343218.5_Missense_Mutation_p.V311A|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	197					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.V197A(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCATGAACTTGAGCAAT	0.493																																																1	Substitution - Missense(1)	kidney(1)											69	69	69					5																	146792202		1950	4114	6064	SO:0001583	missense	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.590T>C	5.37:g.146792202A>G	ENSP00000381526:p.Val197Ala		B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	A	33	5.197759	0.94997	.	.	ENSG00000113657	ENST00000398514;ENST00000343218	D;D	0.91351	-2.83;-2.83	6.02	6.02	0.97574	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96049	0.8713	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	D	0.96641	0.9474	10	0.87932	D	0	-0.6653	16.5446	0.84426	1.0:0.0:0.0:0.0	.	311;197	B3SXQ8;Q14195	.;DPYL3_HUMAN	A	197;311	ENSP00000381526:V197A;ENSP00000343690:V311A	ENSP00000343690:V311A	V	-	2	0	DPYSL3	146772395	1.000000	0.71417	0.949000	0.38748	0.957000	0.61999	9.288000	0.96055	2.311000	0.77944	0.533000	0.62120	GTT		0.493	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		G	146792202	A	G	146792202	3	3	50	1	0	0	0	0	1	0	0	0	4750	43	2	3	1158	3	DPYSL3	5	146792202	Missense_Mutation	SNP	A	TCGA-A3-3357-01A-02D-1421-08	5548781	146792202	34123058	36	3665											
SH3TC2	79628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	148406556	148406556	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:148406556C>G	ENST00000515425.1	-	11	2840	c.2739G>C	c.(2737-2739)aaG>aaC	p.K913N	SH3TC2_ENST00000538184.1_Missense_Mutation_p.K460N|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K906N|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000394358.2_Missense_Mutation_p.K798N	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	913					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.K913N(1)|p.K798N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTGTCTCCTTACTGGCCT	0.502																																																2	Substitution - Missense(2)	kidney(2)											132	138	136					5																	148406556		2203	4300	6503	SO:0001583	missense	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2739G>C	5.37:g.148406556C>G	ENSP00000423660:p.Lys913Asn		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	1.263	-0.615220	0.03663	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.78246	-1.05;-1.16;-1.16;-0.62	6.02	4.15	0.48705	Tetratricopeptide-like helical (1);	0.500805	0.20068	N	0.099924	T	0.54886	0.1886	L	0.29908	0.895	0.28213	N	0.926841	P;B;B;B	0.40000	0.698;0.09;0.201;0.09	B;B;B;B	0.26693	0.072;0.023;0.037;0.023	T	0.48328	-0.9045	10	0.17832	T	0.49	-4.7453	5.385	0.16213	0.2072:0.5377:0.1856:0.0695	.	798;906;913;913	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	N	460;913;906;798	ENSP00000441427:K460N;ENSP00000423660:K913N;ENSP00000421860:K906N;ENSP00000377886:K798N	ENSP00000377886:K798N	K	-	3	2	SH3TC2	148386749	0.001000	0.12720	0.989000	0.46669	0.573000	0.36030	-0.255000	0.08769	1.560000	0.49568	0.650000	0.86243	AAG		0.502	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		G	148406556	C	G	148406556	3	3	50	1	0	0	0	0	1	0	0	0	14268	680	24	4	1155	4	SH3TC2	5	148406556	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	1614354	148406556	32508704	37	3666											
FBXW11	23291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	171299957	171299957	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:171299957A>G	ENST00000265094.5	-	9	1333	c.1196T>C	c.(1195-1197)cTc>cCc	p.L399P	FBXW11_ENST00000425623.2_Missense_Mutation_p.L367P|FBXW11_ENST00000296933.6_Missense_Mutation_p.L386P|FBXW11_ENST00000393802.2_Missense_Mutation_p.L365P	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	399					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L399P(1)|p.L386P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGCCCATTGAGAGTACGAAC	0.443																																																2	Substitution - Missense(2)	kidney(2)											88	77	81					5																	171299957		2203	4300	6503	SO:0001583	missense	23291			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1196T>C	5.37:g.171299957A>G	ENSP00000265094:p.Leu399Pro		B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706350	0.89018	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83569	0.0111	10	0.87932	D	0	-9.5064	15.5314	0.75964	1.0:0.0:0.0:0.0	.	367;365;399;386	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	P	386;399;365;367	ENSP00000296933:L386P;ENSP00000265094:L399P;ENSP00000377391:L365P;ENSP00000444929:L367P	ENSP00000265094:L399P	L	-	2	0	FBXW11	171232562	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.281000	0.95811	2.145000	0.66743	0.533000	0.62120	CTC		0.443	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		G	171299957	A	G	171299957	3	3	50	1	0	0	0	0	1	0	0	0	5766	304	11	3	448	3	FBXW11	5	171299957	Missense_Mutation	SNP	A	TCGA-A3-3357-01A-02D-1421-08	22893401	171299957	9615303	38	3667											
KIAA0319	9856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24547467	24547467	+	Missense_Mutation	SNP	C	C	G	rs201365492		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr6:24547467C>G	ENST00000378214.3	-	21	3669	c.3145G>C	c.(3145-3147)Ggg>Cgg	p.G1049R	KIAA0319_ENST00000537886.1_Missense_Mutation_p.G988R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G1004R|KIAA0319_ENST00000535378.1_Missense_Mutation_p.G1040R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G1049R	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1049					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1049R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTTGGATTCCCTCTCTCCATC	0.468																																																1	Substitution - Missense(1)	kidney(1)											206	191	196					6																	24547467		2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3145G>C	6.37:g.24547467C>G	ENSP00000367459:p.Gly1049Arg		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778361	0.31502	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.10382	2.88;2.94;2.95;2.94;2.94	4.76	3.0	0.34707	.	0.395981	0.23051	N	0.052498	T	0.03915	0.0110	L	0.43923	1.385	0.24931	N	0.991912	B;B;B	0.20671	0.023;0.047;0.028	B;B;B	0.20955	0.023;0.032;0.014	T	0.32719	-0.9896	10	0.72032	D	0.01	-13.749	11.0296	0.47765	0.0:0.8489:0.0:0.1511	.	988;1040;1049	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	R	988;1040;1004;1049;1049	ENSP00000439700:G988R;ENSP00000442403:G1040R;ENSP00000401086:G1004R;ENSP00000367459:G1049R;ENSP00000437656:G1049R	ENSP00000367459:G1049R	G	-	1	0	KIAA0319	24655446	1.000000	0.71417	0.022000	0.16811	0.854000	0.48673	3.754000	0.55189	0.614000	0.30107	-0.137000	0.14449	GGG		0.468	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		G	24547467	C	G	24547467	3	3	50	1	0	0	0	0	1	0	0	0	8170	681	24	4	77	4	KIAA0319	6	24547467	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08		24547467	146567600	39	3668											
COL9A1	1297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	71004163	71004163	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr6:71004163C>T	ENST00000357250.6	-	5	561	c.403G>A	c.(403-405)Gat>Aat	p.D135N	COL9A1_ENST00000370496.3_Missense_Mutation_p.D135N	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	135	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.D135N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGAGGAATCCTGAATCTGC	0.433																																																1	Substitution - Missense(1)	kidney(1)											145	146	146					6																	71004163		2203	4300	6503	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.403G>A	6.37:g.71004163C>T	ENSP00000349790:p.Asp135Asn		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966236	0.53507	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.02421	4.3;4.3	5.58	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.433572	0.25132	N	0.032889	T	0.01835	0.0058	L	0.55481	1.735	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.43294	-0.9400	10	0.36615	T	0.2	.	14.5669	0.68182	0.0:0.9298:0.0:0.0702	.	135	P20849	CO9A1_HUMAN	N	135	ENSP00000349790:D135N;ENSP00000359527:D135N	ENSP00000349790:D135N	D	-	1	0	COL9A1	71060884	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.878000	0.48515	1.500000	0.48636	0.650000	0.86243	GAT		0.433	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			T	71004163	C	T	71004163	3	4	50	1	0	0	0	0	1	0	0	0	3709	855	30	2	2574	2	COL9A1	6	71004163	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	46456696	71004163	100110904	40	3669											
ZUFSP	221302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	116987929	116987929	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr6:116987929T>G	ENST00000368576.3	-	2	670	c.427A>C	c.(427-429)Aaa>Caa	p.K143Q	ZUFSP_ENST00000368573.1_Missense_Mutation_p.K143Q|ZUFSP_ENST00000471919.1_5'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	143							metal ion binding (GO:0046872)	p.K143Q(1)		NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ACAGATCCTTTTATTTCGGTC	0.358																																																1	Substitution - Missense(1)	kidney(1)											127	116	119					6																	116987929		2203	4300	6503	SO:0001583	missense	221302			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"Zinc fingers, C2H2-type"	21224	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 113"	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.427A>C	6.37:g.116987929T>G	ENSP00000357565:p.Lys143Gln		Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	T	3.042	-0.197195	0.06259	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T	0.43294	0.95	5.96	4.79	0.61399	.	0.555457	0.21971	N	0.066453	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33059	-0.9883	10	0.11485	T	0.65	-7.7028	10.009	0.41975	0.0:0.0:0.1774:0.8226	.	143	Q96AP4	ZUFSP_HUMAN	Q	143	ENSP00000357565:K143Q	ENSP00000357562:K143Q	K	-	1	0	ZUFSP	117094622	0.769000	0.28531	0.779000	0.31741	0.021000	0.10359	1.729000	0.38115	1.050000	0.40346	0.533000	0.62120	AAA		0.358	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		G	116987929	T	G	116987929	3	3	50	1	0	0	0	0	1	0	0	0	18251	1850	64	5	1345	5	ZUFSP	6	116987929	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08	45983766	116987929	54127138	41	3670											
FOXK1	221937	broad.mit.edu;hgsc.bcm.edu	37	7	4794095	4794095	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:4794095C>T	ENST00000328914.4	+	3	752	c.752C>T	c.(751-753)cCc>cTc	p.P251L	FOXK1_ENST00000446823.1_Missense_Mutation_p.P88L	NM_001037165.1	NP_001032242.1			forkhead box K1									p.P229L(1)|p.P251L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CTCAGTGTCCCCAACTCCTGC	0.622																																																2	Substitution - Missense(2)	kidney(2)											59	52	54					7																	4794095		2203	4300	6503	SO:0001583	missense	221937			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.752C>T	7.37:g.4794095C>T	ENSP00000328720:p.Pro251Leu			Missense_Mutation	SNP	ENST00000328914.4	37	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976172	0.74360	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.96136	-3.56;-3.92	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.95326	0.8483	L	0.44542	1.39	0.80722	D	1	D;B;B	0.56521	0.976;0.002;0.002	P;B;B	0.54815	0.761;0.009;0.009	D	0.94269	0.7509	10	0.30854	T	0.27	.	17.6246	0.88091	0.0:1.0:0.0:0.0	.	251;134;88	P85037;F5H8G8;P85037-2	FOXK1_HUMAN;.;.	L	88;15;251;134	ENSP00000394442:P88L;ENSP00000328720:P251L	ENSP00000328720:P251L	P	+	2	0	FOXK1	4760621	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.807000	0.86032	2.388000	0.81334	0.655000	0.94253	CCC		0.622	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			T	4794095	C	T	4794095	3	4	50	1	0	0	0	0	1	0	0	0	6016	623	22	2	762	2	FOXK1	7	4794095	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08		4794095	154344568	42	3671											
SP4	6671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21469100	21469100	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:21469100C>T	ENST00000222584.3	+	3	535	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	106					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A106V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CAACTTGTTGCCTCCACTCCT	0.438																																																1	Substitution - Missense(1)	kidney(1)											102	86	92					7																	21469100		2203	4300	6503	SO:0001583	missense	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.317C>T	7.37:g.21469100C>T	ENSP00000222584:p.Ala106Val		O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.850554|2.850554	0.51270|0.51270	.|.	.|.	ENSG00000105866|ENSG00000105866	ENST00000222584|ENST00000446800	T|.	0.09445|.	2.98|.	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	0.110120|.	0.64402|.	D|.	0.000007|.	T|T	0.63663|0.63663	0.2530|0.2530	L|L	0.40543|0.40543	1.245|1.245	0.53688|0.53688	D|D	0.999977|0.999977	B|.	0.19583|.	0.037|.	B|.	0.18871|.	0.023|.	T|T	0.68465|0.68465	-0.5401|-0.5401	10|6	0.66056|0.87932	D|D	0.02|0	.|.	17.3279|17.3279	0.87255|0.87255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106|.	Q02446|.	SP4_HUMAN|.	V|S	106|83	ENSP00000222584:A106V|.	ENSP00000222584:A106V|ENSP00000402421:P83S	A|P	+|+	2|1	0|0	SP4|SP4	21435625|21435625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.110000|7.110000	0.77069|0.77069	2.308000|2.308000	0.77769|0.77769	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.438	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		T	21469100	C	T	21469100	3	4	50	1	0	0	0	0	1	0	0	0	14972	739	26	2	327	2	SP4	7	21469100	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	16675005	21469100	137669563	43	3672											
TAX1BP1	8887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	27868314	27868314	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:27868314T>A	ENST00000396319.2	+	17	2324	c.2236T>A	c.(2236-2238)Ttt>Att	p.F746I	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.F704I|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.F704I|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.F547I|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.F770I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	746					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.F746I(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TCAGAGCAAATTTGAAGAACA	0.428																																																1	Substitution - Missense(1)	kidney(1)											138	128	131					7																	27868314		2203	4300	6503	SO:0001583	missense	8887			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.2236T>A	7.37:g.27868314T>A	ENSP00000379612:p.Phe746Ile		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	T	35	5.497394	0.96355	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	T;T;T;T;T	0.59906	2.28;2.28;2.33;0.23;2.16	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);	0.000000	0.56097	D	0.000040	T	0.75946	0.3919	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.77278	-0.2647	10	0.59425	D	0.04	-16.7129	16.8061	0.85666	0.0:0.0:0.0:1.0	.	547;746;704	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	I	704;704;770;547;746;283	ENSP00000444811:F704I;ENSP00000265393:F704I;ENSP00000386515:F770I;ENSP00000391907:F547I;ENSP00000379612:F746I	ENSP00000265393:F704I	F	+	1	0	TAX1BP1	27834839	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.993000	0.88291	2.367000	0.80283	0.528000	0.53228	TTT		0.428	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		A	27868314	T	A	27868314	3	1	50	1	0	0	0	0	1	0	0	0	15599	1493	52	5	2298	5	TAX1BP1	7	27868314	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08	6399214	27868314	131270349	44	3673											
CLIP2	7461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	73790732	73790732	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:73790732G>T	ENST00000395060.1	+	9	2001	c.2001G>T	c.(1999-2001)ttG>ttT	p.L667F	CLIP2_ENST00000361545.5_Missense_Mutation_p.L632F|CLIP2_ENST00000223398.6_Missense_Mutation_p.L667F			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	667						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.L632F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGGTAACTTGCAGGCCAAGC	0.642																																																1	Substitution - Missense(1)	kidney(1)											56	57	56					7																	73790732		2203	4300	6503	SO:0001583	missense	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2001G>T	7.37:g.73790732G>T	ENSP00000378500:p.Leu667Phe		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709961	0.68730	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.65549	-0.16;0.04;-0.16	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.75803	0.3899	L	0.54323	1.7	0.49051	D	0.999747	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.984;0.999;0.997	T	0.76924	-0.2779	10	0.54805	T	0.06	-18.8022	17.2327	0.86989	0.0:0.0:1.0:0.0	.	632;632;667	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	F	667;667;632;667	ENSP00000223398:L667F;ENSP00000355151:L632F;ENSP00000378500:L667F	ENSP00000223398:L667F	L	+	3	2	CLIP2	73428668	1.000000	0.71417	0.989000	0.46669	0.941000	0.58515	1.477000	0.35431	2.394000	0.81467	0.456000	0.33151	TTG		0.642	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		T	73790732	G	T	73790732	3	4	50	1	0	0	0	0	1	0	0	0	3535	1310	46	4	2035	4	CLIP2	7	73790732	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	45922418	73790732	85347931	45	3674											
KRIT1	889	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91842561	91842561	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:91842561A>T	ENST00000340022.2	-	17	2991	c.1973T>A	c.(1972-1974)gTg>gAg	p.V658E	KRIT1_ENST00000394505.2_Missense_Mutation_p.V658E|KRIT1_ENST00000412043.2_Missense_Mutation_p.V658E|KRIT1_ENST00000394503.2_Missense_Mutation_p.V610E|KRIT1_ENST00000394507.1_Missense_Mutation_p.V658E	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	658	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.V658E(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCTACATACACAGGGATGAC	0.358																																																1	Substitution - Missense(1)	kidney(1)											168	156	160					7																	91842561		2203	4300	6503	SO:0001583	missense	889			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1973T>A	7.37:g.91842561A>T	ENSP00000344668:p.Val658Glu		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.027699	0.93518	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503	T;T;T;T;T	0.76839	0.41;0.41;0.41;0.41;-1.05	6.17	6.17	0.99709	FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.996	D;D;D	0.78314	0.979;0.991;0.979	D	0.87579	0.2483	10	0.72032	D	0.01	-9.0794	16.8222	0.85835	1.0:0.0:0.0:0.0	.	658;610;658	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	E	658;658;658;658;610	ENSP00000378015:V658E;ENSP00000344668:V658E;ENSP00000410909:V658E;ENSP00000378013:V658E;ENSP00000378011:V610E	ENSP00000344668:V658E	V	-	2	0	KRIT1	91680497	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GTG		0.358	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			T	91842561	A	T	91842561	3	4	50	1	0	0	0	0	1	0	0	0	8447	159	6	5	249	5	KRIT1	7	91842561	Missense_Mutation	SNP	A	TCGA-A3-3357-01A-02D-1421-08	18051829	91842561	67296102	46	3675											
WASL	8976	broad.mit.edu;ucsc.edu	37	7	123329154	123329154	+	Silent	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:123329154T>C	ENST00000223023.4	-	10	1730	c.1398A>G	c.(1396-1398)ggA>ggG	p.G466G		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	466					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.G466G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACCCACAATTCCTGAAGTGG	0.443																																																1	Substitution - coding silent(1)	kidney(1)											177	182	180					7																	123329154		2203	4300	6503	SO:0001819	synonymous_variant	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1398A>G	7.37:g.123329154T>C			A1JUI9|Q7Z746	Silent	SNP	ENST00000223023.4	37	CCDS34743.1																																																																																				0.443	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		C	123329154	T	C	123329154	2	2	50	1	0	0	0	0	0	0	0	1	17261	1770	62	3		3	WASL	7	123329154	Silent	SNP	T	TCGA-A3-3357-01A-02D-1421-08	31486593	123329154	35809509	47	3676											
EPHA1	2041	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	143096499	143096499	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:143096499delA	ENST00000275815.3	-	5	929	c.843delT	c.(841-843)cctfs	p.P281fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	281	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGAGCCGCTAGGGCAGGCTG	0.577																																																0													41	35	37					7																	143096499		2203	4298	6501	SO:0001589	frameshift_variant	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.843delT	7.37:g.143096499delA	ENSP00000275815:p.Pro281fs		A1L3V3|B5A966|B5A967|Q15405	Frame_Shift_Del	DEL	ENST00000275815.3	37	CCDS5884.1																																																																																				0.577	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			-	143096499	A	-	143096499	7	5	50	1	0	1	0	1	0	0	0	0	5167	407	15	0	2143	0	EPHA1	7	143096499	Frame_Shift_Del	DEL	A	TCGA-A3-3357-01A-02D-1421-08	19767345	143096499	16042164	48	3677											
WHSC1L1	54904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38189086	38189086	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr8:38189086C>A	ENST00000317025.8	-	5	1445	c.928G>T	c.(928-930)Gtc>Ttc	p.V310F	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.V310F|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.V310F|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.V310F	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	310	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.V310F(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAAAACTGGACATGATATTCT	0.403			T	NUP98	AML																																		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	2	Substitution - Missense(2)	kidney(2)											68	66	66					8																	38189086		2203	4300	6503	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.928G>T	8.37:g.38189086C>A	ENSP00000313983:p.Val310Phe		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467639	0.84533	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	4.58	4.58	0.56647	PWWP (3);	0.000000	0.40469	U	0.001086	D	0.95043	0.8395	M	0.92604	3.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96461	0.9341	10	0.87932	D	0	.	17.4047	0.87470	0.0:1.0:0.0:0.0	.	310;310;310;310	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	F	310;310;247;310;310	ENSP00000393284:V310F;ENSP00000313983:V310F;ENSP00000434730:V310F;ENSP00000313410:V310F	ENSP00000313410:V310F	V	-	1	0	WHSC1L1	38308243	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.118000	0.77137	2.082000	0.62665	0.563000	0.77884	GTC		0.403	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		A	38189086	C	A	38189086	3	1	50	1	0	0	0	0	1	0	0	0	17368	478	17	4	3552	4	WHSC1L1	8	38189086	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08		38189086	108174936	49	3678											
FRMD3	257019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	85950490	85950490	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr9:85950490G>T	ENST00000304195.3	-	6	743	c.537C>A	c.(535-537)ttC>ttA	p.F179L	FRMD3_ENST00000376438.1_Missense_Mutation_p.F179L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	179	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.F179L(1)|p.F75L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ACTGCTTGGGGAAAATCTCAA	0.368																																																2	Substitution - Missense(2)	kidney(2)											116	102	107					9																	85950490		1837	4090	5927	SO:0001583	missense	257019			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.537C>A	9.37:g.85950490G>T	ENSP00000303508:p.Phe179Leu		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186169	0.38609	.	.	ENSG00000172159	ENST00000376438;ENST00000304195;ENST00000376422	T;T	0.74526	-0.85;-0.85	5.44	1.54	0.23209	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.54431	0.1858	N	0.13003	0.285	0.80722	D	1	B;B	0.27264	0.173;0.144	B;B	0.37091	0.241;0.091	T	0.43163	-0.9408	10	0.02654	T	1	.	9.6359	0.39806	0.3583:0.0:0.6417:0.0	.	179;179	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	L	179;179;75	ENSP00000365621:F179L;ENSP00000303508:F179L	ENSP00000303508:F179L	F	-	3	2	FRMD3	85140310	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.143000	0.31553	0.271000	0.22005	-0.373000	0.07131	TTC		0.368	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		T	85950490	G	T	85950490	3	4	50	1	0	0	0	0	1	0	0	0	6052	1165	41	4	1292	4	FRMD3	9	85950490	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08		85950490	55262941	50	3679											
DAPK1	1612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	90255297	90255297	+	Silent	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr9:90255297T>C	ENST00000408954.3	+	8	1049	c.714T>C	c.(712-714)gaT>gaC	p.D238D	DAPK1_ENST00000491893.1_Silent_p.D238D|DAPK1_ENST00000469640.2_Silent_p.D238D|DAPK1_ENST00000472284.1_Silent_p.D238D|DAPK1_ENST00000358077.5_Silent_p.D238D	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D238D(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AATTTGAGGATGAATACTTCA	0.433									Chronic Lymphocytic Leukemia, Familial Clustering of																																							2	Substitution - coding silent(2)	kidney(2)											102	99	100					9																	90255297		1897	4120	6017	SO:0001819	synonymous_variant	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.714T>C	9.37:g.90255297T>C			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																				0.433	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		C	90255297	T	C	90255297	2	2	50	1	0	0	0	0	0	0	0	1	4237	1461	51	3		3	DAPK1	9	90255297	Silent	SNP	T	TCGA-A3-3357-01A-02D-1421-08	4304807	90255297	50958134	51	3680											
ODF2	4957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131256864	131256864	+	Silent	SNP	C	C	T	rs533246171		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr9:131256864C>T	ENST00000434106.3	+	17	2191	c.1828C>T	c.(1828-1830)Ctg>Ttg	p.L610L	ODF2_ENST00000448249.3_Silent_p.L529L|ODF2_ENST00000393533.2_Silent_p.L610L|ODF2_ENST00000604420.1_Silent_p.L610L|ODF2_ENST00000351030.3_Silent_p.L605L|ODF2_ENST00000372807.5_Silent_p.L605L|ODF2_ENST00000372814.3_Silent_p.L654L|ODF2_ENST00000546203.1_Silent_p.L591L|ODF2_ENST00000444119.2_Silent_p.L586L|ODF2_ENST00000372791.3_Silent_p.L591L|ODF2_ENST00000393527.3_Silent_p.L586L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	610					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.L586L(1)|p.L654L(1)|p.L610L(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGAGGCGAAGCTGGCTGAGTG	0.572																																																3	Substitution - coding silent(3)	kidney(3)											73	63	67					9																	131256864		2203	4300	6503	SO:0001819	synonymous_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1828C>T	9.37:g.131256864C>T			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	CCDS56588.1																																																																																				0.572	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			T	131256864	C	T	131256864	2	4	50	1	0	0	0	0	0	0	0	1	10829	796	28	2		2	ODF2	9	131256864	Silent	SNP	C	TCGA-A3-3357-01A-02D-1421-08	41001567	131256864	9956567	52	3681											
NEBL	10529	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	21076186	21076186	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr10:21076186T>C	ENST00000377122.4	-	27	3209	c.2813A>G	c.(2812-2814)tAc>tGc	p.Y938C	NEBL_ENST00000417816.2_Missense_Mutation_p.Y194C|NEBL_ENST00000377159.4_Missense_Mutation_p.Y160C	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	938	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.Y194C(1)|p.Y938C(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGGTGCATGTAGCCATAGCC	0.458																																																2	Substitution - Missense(2)	kidney(2)											230	173	192					10																	21076186		2203	4300	6503	SO:0001583	missense	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2813A>G	10.37:g.21076186T>C	ENSP00000366326:p.Tyr938Cys		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849966	0.71603	.	.	ENSG00000078114	ENST00000377122;ENST00000417816;ENST00000377159	T;T;T	0.18657	2.2;2.2;2.2	6.03	4.88	0.63580	Src homology-3 domain (1);	0.075229	0.53938	D	0.000060	T	0.36468	0.0968	L	0.46157	1.445	0.58432	D	0.999997	D;P	0.76494	0.999;0.667	D;B	0.69142	0.962;0.325	T	0.03296	-1.1051	10	0.40728	T	0.16	.	12.1688	0.54146	0.1369:0.0:0.0:0.8631	.	194;938	Q70I54;O76041	.;NEBL_HUMAN	C	938;194;160	ENSP00000366326:Y938C;ENSP00000393896:Y194C;ENSP00000366364:Y160C	ENSP00000366326:Y938C	Y	-	2	0	NEBL	21116192	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.649000	0.67936	1.052000	0.40392	0.533000	0.62120	TAC		0.458	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		C	21076186	T	C	21076186	3	2	50	1	0	0	0	0	1	0	0	0	10305	1638	57	3	239	3	NEBL	10	21076186	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08		21076186	114458561	53	3682											
ERCC6	2074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	50678573	50678573	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr10:50678573C>T	ENST00000355832.5	-	18	3511	c.3433G>A	c.(3433-3435)Gaa>Aaa	p.E1145K	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Missense_Mutation_p.E515K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1145					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.E1145K(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAATGCTTTCATCACCAGAT	0.378								Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	kidney(1)											102	94	97					10																	50678573		2203	4300	6503	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3433G>A	10.37:g.50678573C>T	ENSP00000348089:p.Glu1145Lys		D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611513	0.28712	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83075	-1.68;-1.41	5.65	3.8	0.43715	.	.	.	.	.	T	0.71417	0.3337	L	0.38838	1.175	0.09310	N	1	B;B	0.28128	0.201;0.01	B;B	0.25140	0.058;0.006	T	0.53415	-0.8442	9	0.06625	T	0.88	-5.6877	10.5929	0.45321	0.0:0.7922:0.0:0.2078	.	1145;522	Q03468;Q59FF6	ERCC6_HUMAN;.	K	1145;522;515	ENSP00000348089:E1145K;ENSP00000445134:E515K	ENSP00000348089:E1145K	E	-	1	0	ERCC6	50348579	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	1.260000	0.32968	0.855000	0.35359	-0.140000	0.14226	GAA		0.378	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		T	50678573	C	T	50678573	3	4	50	1	0	0	0	0	1	0	0	0	5219	835	29	2	1064	2	ERCC6	10	50678573	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	29602387	50678573	84856174	54	3683											
JMJD1C	221037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	64954117	64954117	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr10:64954117C>G	ENST00000399262.2	-	14	5881	c.5663G>C	c.(5662-5664)tGg>tCg	p.W1888S	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.W1669S|JMJD1C_ENST00000542921.1_Missense_Mutation_p.W1706S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1888					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.W1888S(1)|p.W1669S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACACTTCATCCAAGCATATAG	0.303																																																2	Substitution - Missense(2)	kidney(2)											154	142	146					10																	64954117		1856	4097	5953	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5663G>C	10.37:g.64954117C>G	ENSP00000382204:p.Trp1888Ser		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.521545|4.521545	0.85600|0.85600	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000542921	.|T;T;T	.|0.61158	.|0.44;0.13;0.45	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80325|0.80325	0.4602|0.4602	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.997;0.997;0.991	.|D;D;D	.|0.68039	.|0.921;0.921;0.955	D|D	0.83676|0.83676	0.0169|0.0169	5|10	.|0.87932	.|D	.|0	-3.9247|-3.9247	19.3354|19.3354	0.94316|0.94316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1429;1888;1706	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	R|S	435|1888;1669;1706	.|ENSP00000382204:W1888S;ENSP00000384990:W1669S;ENSP00000444682:W1706S	.|ENSP00000382204:W1888S	G|W	-|-	1|2	0|0	JMJD1C|JMJD1C	64624123|64624123	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.750000|7.750000	0.85110|0.85110	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.303	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		G	64954117	C	G	64954117	3	3	50	1	0	0	0	0	1	0	0	0	7952	595	21	4	2011	4	JMJD1C	10	64954117	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	14275544	64954117	70580630	55	3684											
OR2AG1	144125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6806547	6806547	+	Silent	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr11:6806547C>T	ENST00000307401.4	+	1	300	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S93S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACACCATCTCCTTTGGAGGCT	0.547																																																1	Substitution - coding silent(1)	kidney(1)											113	101	105					11																	6806547		2201	4296	6497	SO:0001819	synonymous_variant	144125			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"GPCR / Class A : Olfactory receptors"	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.279C>T	11.37:g.6806547C>T			B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	CCDS31414.1																																																																																				0.547	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		T	6806547	C	T	6806547	2	4	50	1	0	0	0	0	0	0	0	1	10986	668	24	2		2	OR2AG1	11	6806547	Silent	SNP	C	TCGA-A3-3357-01A-02D-1421-08		6806547	128199969	56	3685											
CCDC73	493860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32657351	32657351	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr11:32657351T>C	ENST00000335185.5	-	14	1119	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	359								p.N359S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTAATCTTATTAATTTCTCC	0.229																																																1	Substitution - Missense(1)	kidney(1)											32	30	31					11																	32657351		1760	4009	5769	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1076A>G	11.37:g.32657351T>C	ENSP00000335325:p.Asn359Ser		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.62|10.62	1.401869|1.401869	0.25291|0.25291	.|.	.|.	ENSG00000186714|ENSG00000186714	ENST00000528333|ENST00000335185	.|.	.|.	.|.	5.32|5.32	2.99|2.99	0.34606|0.34606	.|.	.|0.282062	.|0.34067	.|N	.|0.004285	T|T	0.35248|0.35248	0.0925|0.0925	L|L	0.56769|0.56769	1.78|1.78	0.18873|0.18873	N|N	0.999988|0.999988	.|B;B	.|0.27068	.|0.167;0.161	.|B;B	.|0.31101	.|0.124;0.116	T|T	0.22765|0.22765	-1.0207|-1.0207	5|9	.|0.23302	.|T	.|0.38	.|.	6.524|6.524	0.22291|0.22291	0.0:0.0797:0.1565:0.7638|0.0:0.0797:0.1565:0.7638	.|.	.|349;359	.|Q6ZRK6-2;Q6ZRK6	.|.;CCD73_HUMAN	V|S	10|359	.|.	.|ENSP00000335325:N359S	I|N	-|-	1|2	0|0	CCDC73|CCDC73	32613927|32613927	0.023000|0.023000	0.18921|0.18921	0.555000|0.555000	0.28281|0.28281	0.585000|0.585000	0.36419|0.36419	0.486000|0.486000	0.22340|0.22340	0.413000|0.413000	0.25759|0.25759	-0.389000|-0.389000	0.06534|0.06534	ATA|AAT		0.229	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		C	32657351	T	C	32657351	3	2	50	1	0	0	0	0	1	0	0	0	2848	1493	52	3	2183	3	CCDC73	11	32657351	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08	25850804	32657351	102349165	57	3686											
SLC29A2	3177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66136951	66136951	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr11:66136951C>G	ENST00000357440.2	-	3	392	c.164G>C	c.(163-165)aGc>aCc	p.S55T	SLC29A2_ENST00000544554.1_Missense_Mutation_p.S55T|SLC29A2_ENST00000311161.7_Missense_Mutation_p.S55T|SLC29A2_ENST00000546034.1_Missense_Mutation_p.S55T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	55					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.S55T(1)		breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTGGTTGGTGCTCAGGATCCT	0.637																																																1	Substitution - Missense(1)	kidney(1)											189	184	186					11																	66136951		2200	4295	6495	SO:0001583	missense	3177			X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"Solute carriers"	11004	protein-coding gene	gene with protein product		602110	"solute carrier family 29 (nucleoside transporters), member 2"	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.164G>C	11.37:g.66136951C>G	ENSP00000350024:p.Ser55Thr		B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	C	0.335	-0.953663	0.02285	.	.	ENSG00000174669	ENST00000311161;ENST00000357440;ENST00000544554;ENST00000546034	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.85	0.791	0.18619	.	0.902618	0.08892	U	0.878485	T	0.15739	0.0379	L	0.43923	1.385	0.09310	N	1	P;B	0.39311	0.667;0.181	B;B	0.35727	0.209;0.068	T	0.23976	-1.0173	10	0.19590	T	0.45	2.2815	8.0914	0.30803	0.0:0.5654:0.0:0.4346	.	55;55	G5E943;Q14542	.;S29A2_HUMAN	T	55	ENSP00000311250:S55T;ENSP00000350024:S55T;ENSP00000439456:S55T;ENSP00000440329:S55T	ENSP00000311250:S55T	S	-	2	0	SLC29A2	65893527	0.000000	0.05858	0.154000	0.22540	0.019000	0.09904	-0.139000	0.10358	0.143000	0.18926	-0.266000	0.10368	AGC		0.637	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		G	66136951	C	G	66136951	3	3	50	1	0	0	0	0	1	0	0	0	14541	797	28	4	1246	4	SLC29A2	11	66136951	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	33479600	66136951	68869565	58	3687											
IL18BP	10068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	71711432	71711432	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr11:71711432C>T	ENST00000393703.4	+	3	601	c.64C>T	c.(64-66)Cac>Tac	p.H22Y	IL18BP_ENST00000393707.4_Missense_Mutation_p.H22Y|IL18BP_ENST00000337131.5_Missense_Mutation_p.H22Y|IL18BP_ENST00000404792.1_Missense_Mutation_p.H22Y|IL18BP_ENST00000497194.2_Missense_Mutation_p.H22Y|IL18BP_ENST00000531053.1_Missense_Mutation_p.H22Y|IL18BP_ENST00000393705.4_Missense_Mutation_p.H22Y|IL18BP_ENST00000260049.5_Missense_Mutation_p.H22Y	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	22					cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)	p.H22Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCTGTGTGCCCACGTCGTCAC	0.612																																																1	Substitution - Missense(1)	kidney(1)											96	104	101					11																	71711432		2114	4251	6365	SO:0001583	missense	10068			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.64C>T	11.37:g.71711432C>T	ENSP00000377306:p.His22Tyr		B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266294	0.23136	.	.	ENSG00000137496	ENST00000393703;ENST00000497194;ENST00000393705;ENST00000337131;ENST00000531053;ENST00000404792;ENST00000260049;ENST00000393707	T;T;T;T;T;T;T	0.40476	1.09;1.03;1.09;1.09;1.03;1.09;1.09	4.35	2.46	0.29980	.	0.540328	0.17055	N	0.188774	T	0.56630	0.1998	M	0.68317	2.08	0.09310	N	1	D;D;D	0.76494	0.989;0.996;0.999	D;D;D	0.83275	0.979;0.991;0.996	T	0.41052	-0.9530	10	0.87932	D	0	-1.9178	6.0713	0.19891	0.0:0.7073:0.1911:0.1016	.	22;22;22	O95998-3;G3V1C5;O95998	.;.;I18BP_HUMAN	Y	22	ENSP00000377306:H22Y;ENSP00000434717:H22Y;ENSP00000377308:H22Y;ENSP00000338723:H22Y;ENSP00000434835:H22Y;ENSP00000384212:H22Y;ENSP00000260049:H22Y	ENSP00000260049:H22Y	H	+	1	0	IL18BP	71389080	0.245000	0.23899	0.008000	0.14137	0.045000	0.14185	1.120000	0.31271	0.776000	0.33473	-1.099000	0.02127	CAC		0.612	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		T	71711432	C	T	71711432	3	4	50	1	0	0	0	0	1	0	0	0	7648	594	21	2	70	2	IL18BP	11	71711432	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	5574481	71711432	63295084	59	3688											
FAM55B	120406	broad.mit.edu;ucsc.edu	37	11	114568953	114568953	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr11:114568953A>T	ENST00000389586.4	+	3	509	c.319A>T	c.(319-321)Acc>Tcc	p.T107S	NXPE2_ENST00000375475.5_Missense_Mutation_p.T107S	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	107						integral component of membrane (GO:0016021)		p.T107S(2)									GAATACCACCACCAGTGCCAC	0.512																																																2	Substitution - Missense(2)	kidney(2)											164	134	143					11																	114568953		692	1591	2283	SO:0001583	missense	0			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.319A>T	11.37:g.114568953A>T	ENSP00000374237:p.Thr107Ser		Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971649	0.74246	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.38240	1.86;1.15	4.66	4.66	0.58398	Immunoglobulin E-set (1);	0.000000	0.64402	D	0.000008	T	0.60104	0.2243	M	0.82923	2.615	0.39864	D	0.973428	D	0.65815	0.995	D	0.67382	0.951	T	0.67764	-0.5586	10	0.66056	D	0.02	.	12.076	0.53644	1.0:0.0:0.0:0.0	.	107	Q96DL1	FA55B_HUMAN	S	107	ENSP00000374237:T107S;ENSP00000364624:T107S	ENSP00000364624:T107S	T	+	1	0	FAM55B	114074163	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.660000	0.61511	1.740000	0.51718	0.482000	0.46254	ACC		0.512	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		T	114568953	A	T	114568953	3	4	50	1	0	0	0	0	1	0	0	0	5587	159	6	5	329	5	FAM55B	11	114568953	Missense_Mutation	SNP	A	TCGA-A3-3357-01A-02D-1421-08	42857521	114568953	20437563	60	3689											
C3AR1	719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	8212018	8212018	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:8212018T>A	ENST00000307637.4	-	2	967	c.764A>T	c.(763-765)tAt>tTt	p.Y255F		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	255					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.Y255F(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TACATTAGAATACAGATTTTG	0.443																																																1	Substitution - Missense(1)	kidney(1)											65	67	66					12																	8212018		2203	4300	6503	SO:0001583	missense	719			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.764A>T	12.37:g.8212018T>A	ENSP00000302079:p.Tyr255Phe		O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	T	7.060	0.566182	0.13560	.	.	ENSG00000171860	ENST00000307637	T	0.71103	-0.54	4.37	0.455	0.16649	GPCR, rhodopsin-like superfamily (1);	1.134030	0.06866	N	0.799882	T	0.50411	0.1614	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31530	-0.9940	10	0.06236	T	0.91	.	2.4372	0.04485	0.21:0.2334:0.0:0.5566	.	255	Q16581	C3AR_HUMAN	F	255	ENSP00000302079:Y255F	ENSP00000302079:Y255F	Y	-	2	0	C3AR1	8103285	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.063000	0.14410	0.315000	0.23110	0.533000	0.62120	TAT		0.443	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			A	8212018	T	A	8212018	3	1	50	1	0	0	0	0	1	0	0	0	2207	1406	49	5	688	5	C3AR1	12	8212018	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08		8212018	125639877	61	3690											
SYT10	341359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	33579108	33579108	+	Silent	SNP	C	C	T	rs111713819		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:33579108C>T	ENST00000228567.3	-	2	770	c.474G>A	c.(472-474)gtG>gtA	p.V158V	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	158					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.V158V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTGTCTTTGCACACGTGCAT	0.413																																																1	Substitution - coding silent(1)	kidney(1)											187	194	192					12																	33579108		2203	4300	6503	SO:0001819	synonymous_variant	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.474G>A	12.37:g.33579108C>T			Q495U2	Silent	SNP	ENST00000228567.3	37	CCDS8732.1																																																																																				0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		T	33579108	C	T	33579108	2	4	50	1	0	0	0	0	0	0	0	1	15471	697	25	2		2	SYT10	12	33579108	Silent	SNP	C	TCGA-A3-3357-01A-02D-1421-08	25367090	33579108	100272787	62	3691											
POC1B	282809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	89885862	89885862	+	Silent	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:89885862A>G	ENST00000313546.3	-	4	431	c.303T>C	c.(301-303)caT>caC	p.H101H	POC1B_ENST00000549035.1_Silent_p.H59H|POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000549504.1_5'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	101					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.H101H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGGAGCTGTATGAGCTTTAA	0.343																																																1	Substitution - coding silent(1)	kidney(1)											74	74	74					12																	89885862		2203	4300	6503	SO:0001819	synonymous_variant	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.303T>C	12.37:g.89885862A>G			G3V1X0	Silent	SNP	ENST00000313546.3	37	CCDS31869.1																																																																																				0.343	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		G	89885862	A	G	89885862	2	3	50	1	0	0	0	0	0	0	0	1	12178	446	16	3		3	POC1B	12	89885862	Silent	SNP	A	TCGA-A3-3357-01A-02D-1421-08	56306754	89885862	43966033	63	3692											
C12orf48	55010	hgsc.bcm.edu	37	12	102559621	102559621	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:102559621delG	ENST00000358383.5	+	6	826	c.781delG	c.(781-783)gacfs	p.D261fs	PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Frame_Shift_Del_p.D338fs|PARPBP_ENST00000392911.2_Frame_Shift_Del_p.D180fs|PARPBP_ENST00000543784.1_Frame_Shift_Del_p.D147fs|PARPBP_ENST00000378128.3_Frame_Shift_Del_p.D261fs|PARPBP_ENST00000327680.2_Frame_Shift_Del_p.D180fs			Q9NWS1	PARI_HUMAN	PARP1 binding protein	261					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						TAATTTCATTGACAAATTAGA	0.303																																																0													89	94	93					12																	102559621		2203	4300	6503	SO:0001589	frameshift_variant	0			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.781delG	12.37:g.102559621delG	ENSP00000351153:p.Asp261fs		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Frame_Shift_Del	DEL	ENST00000358383.5	37	CCDS9090.2																																																																																				0.303	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		-	102559621	G	-	102559621	7	5	50	1	0	1	0	1	0	0	0	0	1694	1290	45	0	552	0	C12orf48	12	102559621	Frame_Shift_Del	DEL	G	TCGA-A3-3357-01A-02D-1421-08	12673759	102559621	31292274	64	3693											
ACACB	32	broad.mit.edu;hgsc.bcm.edu	37	12	109660697	109660697	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:109660697T>C	ENST00000338432.7	+	26	3891	c.3772T>C	c.(3772-3774)Ttc>Ctc	p.F1258L	ACACB_ENST00000377854.5_Missense_Mutation_p.F1188L|ACACB_ENST00000377848.3_Missense_Mutation_p.F1258L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1258					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.F1258L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGGCCACCAGTTCTGCCCCGA	0.602																																																1	Substitution - Missense(1)	kidney(1)											81	58	65					12																	109660697		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3772T>C	12.37:g.109660697T>C	ENSP00000341044:p.Phe1258Leu		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246325	0.59103	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.42131	0.98;0.98;0.98	5.07	5.07	0.68467	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	M	0.75447	2.3	0.80722	D	1	D	0.65815	0.995	D	0.63957	0.92	T	0.57740	-0.7759	10	0.11794	T	0.64	.	15.1641	0.72807	0.0:0.0:0.0:1.0	.	1258	O00763	ACACB_HUMAN	L	1258;1258;1188;489	ENSP00000341044:F1258L;ENSP00000367079:F1258L;ENSP00000367085:F1188L	ENSP00000341044:F1258L	F	+	1	0	ACACB	108145080	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.232000	0.72313	2.043000	0.60533	0.528000	0.53228	TTC		0.602	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		C	109660697	T	C	109660697	3	2	50	1	0	0	0	0	1	0	0	0	107	1725	60	3	3870	3	ACACB	12	109660697	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08	7101076	109660697	24191198	65	3694											
UBE3B	89910	broad.mit.edu;hgsc.bcm.edu	37	12	109935725	109935725	+	Silent	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:109935725T>C	ENST00000342494.3	+	10	1411	c.816T>C	c.(814-816)ccT>ccC	p.P272P	UBE3B_ENST00000280774.5_Silent_p.P272P|UBE3B_ENST00000434735.2_Silent_p.P272P	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	272					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P272P(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CAGTGACCCCTGAGGTAAGCA	0.458																																																1	Substitution - coding silent(1)	kidney(1)											161	132	142					12																	109935725		2203	4300	6503	SO:0001819	synonymous_variant	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.816T>C	12.37:g.109935725T>C			A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	CCDS9129.1																																																																																				0.458	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		C	109935725	T	C	109935725	2	2	50	1	0	0	0	0	0	0	0	1	16885	1567	55	3		3	UBE3B	12	109935725	Silent	SNP	T	TCGA-A3-3357-01A-02D-1421-08	275028	109935725	23916170	66	3695											
DCT	1638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95092274	95092274	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr13:95092274G>C	ENST00000377028.5	-	8	1851	c.1438C>G	c.(1438-1440)Ctg>Gtg	p.L480V	DCT_ENST00000446125.1_Missense_Mutation_p.L513V	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	480					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.L480V(1)|p.L513V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAAGCCACCAGTGTTCCCATG	0.418																																																2	Substitution - Missense(2)	kidney(2)											85	86	86					13																	95092274		2203	4300	6503	SO:0001583	missense	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1438C>G	13.37:g.95092274G>C	ENSP00000366227:p.Leu480Val		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	9.361	1.067977	0.20067	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99369	-5.63;-5.78	4.88	3.14	0.36123	.	0.534815	0.18117	N	0.151164	D	0.97773	0.9269	L	0.32530	0.975	0.46336	D	0.998994	D;P	0.54964	0.969;0.952	P;P	0.51101	0.659;0.452	D	0.95385	0.8476	10	0.36615	T	0.2	-11.693	7.8361	0.29371	0.2622:0.0:0.7378:0.0	.	513;480	Q09GT4;P40126	.;TYRP2_HUMAN	V	480;513	ENSP00000366227:L480V;ENSP00000392762:L513V	ENSP00000366227:L480V	L	-	1	2	DCT	93890275	0.145000	0.22656	0.018000	0.16275	0.287000	0.27160	0.581000	0.23819	0.574000	0.29417	0.563000	0.77884	CTG		0.418	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			C	95092274	G	C	95092274	3	2	50	1	0	0	0	0	1	0	0	0	4306	1020	36	4	125	4	DCT	13	95092274	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08		95092274	20077604	67	3696											
CCNB1IP1	57820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	20779855	20779855	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr14:20779855C>T	ENST00000398169.3	-	7	1304	c.688G>A	c.(688-690)Gat>Aat	p.D230N	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.D230N|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.D230N|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.D230N|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.D230N|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.D230N			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	230					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D230N(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AAATCTCCATCTCCATCGCCC	0.398			T	HMGA2	leiomyoma																																		Dom	yes		14	14q11.2	57820	"cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"		M	1	Substitution - Missense(1)	kidney(1)											96	98	97					14																	20779855		2203	4300	6503	SO:0001583	missense	57820			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"human enhancer of invasion 10"	608249	"chromosome 14 open reading frame 18", "cyclin B1 interacting protein 1"	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.688G>A	14.37:g.20779855C>T	ENSP00000381235:p.Asp230Asn			Missense_Mutation	SNP	ENST00000398169.3	37	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659222	0.67586	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	L	0.29908	0.895	0.45607	D	0.99854	P	0.38110	0.618	B	0.43386	0.418	T	0.39742	-0.9599	9	0.16420	T	0.52	-15.7872	15.9906	0.80202	0.0:1.0:0.0:0.0	.	230	Q9NPC3	CIP1_HUMAN	N	230	.	ENSP00000337396:D230N	D	-	1	0	CCNB1IP1	19849695	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.371000	0.59523	2.573000	0.86826	0.650000	0.86243	GAT		0.398	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		T	20779855	C	T	20779855	3	4	50	1	0	0	0	0	1	0	0	0	2914	913	32	2	149	2	CCNB1IP1	14	20779855	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08		20779855	86569685	68	3697											
PCNX	22990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	71479737	71479737	+	Silent	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr14:71479737G>A	ENST00000304743.2	+	11	3260	c.2814G>A	c.(2812-2814)ttG>ttA	p.L938L	PCNX_ENST00000238570.5_Silent_p.L938L|PCNX_ENST00000439984.3_Silent_p.L827L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	938						integral component of membrane (GO:0016021)		p.L938L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATAGACTATTGACCATTGATA	0.373																																																1	Substitution - coding silent(1)	kidney(1)											111	109	110					14																	71479737		2203	4300	6503	SO:0001819	synonymous_variant	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2814G>A	14.37:g.71479737G>A			B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	CCDS9806.1																																																																																				0.373	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		A	71479737	G	A	71479737	2	1	50	1	0	0	0	0	0	0	0	1	11593	1281	45	2		2	PCNX	14	71479737	Silent	SNP	G	TCGA-A3-3357-01A-02D-1421-08	50699882	71479737	35869803	69	3698											
RBM25	58517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	73570036	73570036	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr14:73570036G>C	ENST00000261973.7	+	10	1289	c.1004G>C	c.(1003-1005)cGa>cCa	p.R335P	RBM25_ENST00000527432.1_Missense_Mutation_p.R335P	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	335	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R335P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gaacgtgaacgagaaaaggag	0.522																																																1	Substitution - Missense(1)	kidney(1)											161	140	147					14																	73570036		2203	4300	6503	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1004G>C	14.37:g.73570036G>C	ENSP00000261973:p.Arg335Pro		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495967	0.44352	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.58940	0.3;0.3	5.35	5.35	0.76521	.	0.450628	0.23250	N	0.050245	T	0.67411	0.2890	L	0.46157	1.445	0.80722	D	1	D	0.61080	0.989	P	0.59546	0.859	T	0.65676	-0.6110	10	0.44086	T	0.13	.	17.208	0.86923	0.0:0.0:1.0:0.0	.	335	P49756	RBM25_HUMAN	P	335	ENSP00000261973:R335P;ENSP00000431150:R335P	ENSP00000261973:R335P	R	+	2	0	RBM25	72639789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.665000	0.90641	0.591000	0.81541	CGA		0.522	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		C	73570036	G	C	73570036	3	2	50	1	0	0	0	0	1	0	0	0	13131	1058	37	4	1038	4	RBM25	14	73570036	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	2090299	73570036	33779504	70	3699											
FLRT2	23768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	86088731	86088731	+	Silent	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr14:86088731G>T	ENST00000330753.4	+	2	1640	c.873G>T	c.(871-873)ctG>ctT	p.L291L	FLRT2_ENST00000554746.1_Silent_p.L291L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	291					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.L291L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGCGGATGCTGACTCAAGGGG	0.458																																																1	Substitution - coding silent(1)	kidney(1)											170	177	175					14																	86088731		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.873G>T	14.37:g.86088731G>T			A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.458	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			T	86088731	G	T	86088731	2	4	50	1	0	0	0	0	0	0	0	1	5941	1277	45	4		4	FLRT2	14	86088731	Silent	SNP	G	TCGA-A3-3357-01A-02D-1421-08	12518695	86088731	21260809	71	3700											
RIN3	79890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	93118453	93118453	+	Silent	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr14:93118453C>A	ENST00000216487.7	+	6	1218	c.1059C>A	c.(1057-1059)ccC>ccA	p.P353P	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	353	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P353P(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCTGGGCCCCCTCAGGGAGG	0.682																																																1	Substitution - coding silent(1)	kidney(1)											25	27	26					14																	93118453		2115	4205	6320	SO:0001819	synonymous_variant	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1059C>A	14.37:g.93118453C>A			Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	CCDS32144.1																																																																																				0.682	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			A	93118453	C	A	93118453	2	1	50	1	0	0	0	0	0	0	0	1	13379	610	22	4		4	RIN3	14	93118453	Silent	SNP	C	TCGA-A3-3357-01A-02D-1421-08	7029722	93118453	14231087	72	3701											
ATP8B4	79895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50336887	50336887	+	Silent	SNP	T	T	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr15:50336887T>A	ENST00000284509.6	-	5	345	c.204A>T	c.(202-204)ctA>ctT	p.L68L	ATP8B4_ENST00000559829.1_Silent_p.L68L|ATP8B4_ENST00000558959.1_5'Flank	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	68						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L68L(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTCTGGAATTAGCTGAAACA	0.358																																																1	Substitution - coding silent(1)	kidney(1)											78	69	72					15																	50336887		2196	4295	6491	SO:0001819	synonymous_variant	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.204A>T	15.37:g.50336887T>A			Q9H727	Silent	SNP	ENST00000284509.6	37	CCDS32238.1																																																																																				0.358	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		A	50336887	T	A	50336887	2	1	50	1	0	0	0	0	0	0	0	1	1197	1741	61	5		5	ATP8B4	15	50336887	Silent	SNP	T	TCGA-A3-3357-01A-02D-1421-08		50336887	52194505	73	3702											
HERC1	8925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63950916	63950916	+	Splice_Site	SNP	A	A	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr15:63950916A>T	ENST00000443617.2	-	48	9513	c.9426T>A	c.(9424-9426)ggT>ggA	p.G3142G		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3142					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G3142G(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCCATGGCAACCTGAAAAAC	0.418																																																2	Substitution - coding silent(2)	kidney(2)											61	56	58					15																	63950916		1866	4113	5979	SO:0001630	splice_region_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9425-1T>A	15.37:g.63950916A>T			Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	Silent	T	63950916	A	T	63950916	5	4	50	1	0	0	0	0	0	0	1	0	7059	57	2	5	5283	5	HERC1	15	63950916	Splice_Site	SNP	A	TCGA-A3-3357-01A-02D-1421-08	13614029	63950916	38580476	74	3703											
IREB2	3658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78765670	78765670	+	Missense_Mutation	SNP	G	G	T	rs149685388		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr15:78765670G>T	ENST00000258886.8	+	8	1119	c.970G>T	c.(970-972)Ggg>Tgg	p.G324W	IREB2_ENST00000560440.1_Missense_Mutation_p.G324W	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	324					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.G324W(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGAGTTAACTGGGTCATCAAA	0.383																																					NSCLC(200;764 2208 35157 49871 50830)											1	Substitution - Missense(1)	kidney(1)											254	229	237					15																	78765670		2196	4293	6489	SO:0001583	missense	3658			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.970G>T	15.37:g.78765670G>T	ENSP00000258886:p.Gly324Trp		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151162	0.94645	.	.	ENSG00000136381	ENST00000258886	T	0.74209	-0.82	6.08	6.08	0.98989	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	H	0.99642	4.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.978	D	0.95655	0.8710	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	324;324	P48200;Q8WVK6	IREB2_HUMAN;.	W	324	ENSP00000258886:G324W	ENSP00000258886:G324W	G	+	1	0	IREB2	76552725	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	9.632000	0.98428	2.894000	0.99253	0.591000	0.81541	GGG		0.383	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		T	78765670	G	T	78765670	3	4	50	1	0	0	0	0	1	0	0	0	7828	1348	47	4	1000	4	IREB2	15	78765670	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	14814754	78765670	23765722	75	3704											
MYH11	4629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15854414	15854414	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr16:15854414C>A	ENST00000300036.5	-	11	1340	c.1231G>T	c.(1231-1233)Gct>Tct	p.A411S	MYH11_ENST00000452625.2_Missense_Mutation_p.A418S|MYH11_ENST00000396324.3_Missense_Mutation_p.A418S|MYH11_ENST00000576790.2_Missense_Mutation_p.A411S	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	411	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.A418S(1)|p.A411S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTTGTCTGAGCTTTCTGTACC	0.443			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	2	Substitution - Missense(2)	kidney(2)											447	347	381					16																	15854414		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1231G>T	16.37:g.15854414C>A	ENSP00000300036:p.Ala411Ser		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372446	0.82573	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.129073	0.52532	D	0.000079	D	0.90075	0.6900	L	0.45285	1.41	0.80722	D	1	B;B;B;B;B;P	0.37276	0.097;0.385;0.385;0.385;0.385;0.589	P;P;P;P;P;P	0.53518	0.621;0.621;0.621;0.621;0.621;0.728	D	0.90995	0.4838	10	0.87932	D	0	.	17.3351	0.87278	0.0:1.0:0.0:0.0	.	418;411;411;418;411;418	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	S	411;411;418;418;418	ENSP00000300036:A411S;ENSP00000345136:A411S;ENSP00000379616:A418S;ENSP00000407821:A418S	ENSP00000300036:A411S	A	-	1	0	MYH11	15761915	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.795000	0.85887	2.336000	0.79503	0.306000	0.20318	GCT		0.443	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		A	15854414	C	A	15854414	3	1	50	1	0	0	0	0	1	0	0	0	10033	797	28	4	4846	4	MYH11	16	15854414	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08		15854414	74500339	76	3705											
MYLK3	91807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	46743538	46743538	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr16:46743538A>T	ENST00000394809.4	-	12	2428	c.2313T>A	c.(2311-2313)aaT>aaA	p.N771K	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.N430K	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	771					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.N771K(1)|p.N850K(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGGCAAATTATTCAGCCACT	0.413																																																2	Substitution - Missense(2)	kidney(2)											172	162	166					16																	46743538		2203	4300	6503	SO:0001583	missense	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2313T>A	16.37:g.46743538A>T	ENSP00000378288:p.Asn771Lys		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071741	0.36566	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.37752	1.18;1.18	6.03	2.64	0.31445	Protein kinase-like domain (1);	0.207309	0.24215	N	0.040490	T	0.28962	0.0719	L	0.58101	1.795	0.31194	N	0.700609	B	0.23937	0.094	B	0.19946	0.027	T	0.22906	-1.0203	10	0.25751	T	0.34	.	5.7661	0.18227	0.4939:0.1437:0.3624:0.0	.	771	Q32MK0	MYLK3_HUMAN	K	771;430	ENSP00000378288:N771K;ENSP00000439297:N430K	ENSP00000378288:N771K	N	-	3	2	MYLK3	45301039	0.005000	0.15991	0.287000	0.24848	0.966000	0.64601	0.016000	0.13377	0.190000	0.20209	0.454000	0.30748	AAT		0.413	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		T	46743538	A	T	46743538	3	4	50	1	0	0	0	0	1	0	0	0	10060	446	16	5	154	5	MYLK3	16	46743538	Missense_Mutation	SNP	A	TCGA-A3-3357-01A-02D-1421-08	30889124	46743538	43611215	77	3706											
RPGRIP1L	23322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53692370	53692370	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr16:53692370C>G	ENST00000379925.3	-	12	1407	c.1357G>C	c.(1357-1359)Gat>Cat	p.D453H	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D453H|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.D453H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D453H	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	453					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.D453H(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCATTAATATCATTCTCCTGC	0.333																																																1	Substitution - Missense(1)	kidney(1)											94	88	90					16																	53692370		2198	4299	6497	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1357G>C	16.37:g.53692370C>G	ENSP00000369257:p.Asp453His		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039951	0.35989	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.90197	-2.63;-2.63	5.71	3.78	0.43462	.	0.367137	0.33382	N	0.004961	D	0.91794	0.7404	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.69078	0.987;0.994;0.997;0.985	P;P;P;P	0.62813	0.789;0.838;0.907;0.849	D	0.91294	0.5061	10	0.62326	D	0.03	-9.33	12.114	0.53856	0.0:0.8623:0.0:0.1377	.	453;453;453;453	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	H	453	ENSP00000369257:D453H;ENSP00000262135:D453H	ENSP00000262135:D453H	D	-	1	0	RPGRIP1L	52249871	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	3.891000	0.56227	0.777000	0.33496	-0.781000	0.03364	GAT		0.333	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		G	53692370	C	G	53692370	3	3	50	1	0	0	0	0	1	0	0	0	13556	826	29	4	2654	4	RPGRIP1L	16	53692370	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	6948832	53692370	36662383	78	3707											
C17orf68	80169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8141397	8141397	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:8141397G>A	ENST00000315684.8	-	4	606	c.599C>T	c.(598-600)cCt>cTt	p.P200L	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	200					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)	p.P200L(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GACAGGGATAGGCGTGACGGG	0.587																																																1	Substitution - Missense(1)	kidney(1)											73	78	76					17																	8141397		1989	4168	6157	SO:0001583	missense	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.599C>T	17.37:g.8141397G>A	ENSP00000313759:p.Pro200Leu		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184185	0.57800	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83163	-1.69;-1.69	5.51	5.51	0.81932	.	0.346611	0.28317	N	0.015797	D	0.89054	0.6606	M	0.68317	2.08	0.26652	N	0.972088	D	0.67145	0.996	D	0.65573	0.936	T	0.82940	-0.0208	10	0.51188	T	0.08	-18.3149	14.7928	0.69854	0.0:0.0:1.0:0.0	.	200	Q2NKJ3	CTC1_HUMAN	L	200	ENSP00000313759:P200L;ENSP00000396018:P200L	ENSP00000313759:P200L	P	-	2	0	CTC1	8082122	0.725000	0.28048	0.196000	0.23383	0.547000	0.35210	1.962000	0.40442	2.873000	0.98535	0.561000	0.74099	CCT		0.587	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		A	8141397	G	A	8141397	3	1	50	1	0	0	0	0	1	0	0	0	1878	1000	35	2	3134	2	C17orf68	17	8141397	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08		8141397	73053813	79	3708											
NCOR1	9611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15961009	15961009	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:15961009G>T	ENST00000268712.3	-	40	6468	c.6211C>A	c.(6211-6213)Cag>Aag	p.Q2071K	NCOR1_ENST00000395857.3_Missense_Mutation_p.Q655K|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1968K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2071	ID1. {ECO:0000250}.|Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.Q2071K(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGGGAGTCTGCGAGGAAACT	0.398																																																1	Substitution - Missense(1)	kidney(1)											103	104	104					17																	15961009		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6211C>A	17.37:g.15961009G>T	ENSP00000268712:p.Gln2071Lys		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.716943	0.48622	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.42513	0.97;1.55;0.97	5.17	5.17	0.71159	.	0.176060	0.50627	D	0.000102	T	0.36110	0.0955	N	0.25647	0.755	0.43740	D	0.996232	B;B;P;P;B;P	0.50528	0.013;0.02;0.779;0.902;0.043;0.936	B;B;B;B;B;P	0.45195	0.015;0.01;0.204;0.417;0.073;0.473	T	0.06807	-1.0806	10	0.25106	T	0.35	.	17.6463	0.88149	0.0:0.0:1.0:0.0	.	881;1975;2071;1968;591;85	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;.;NCOR1_HUMAN;.;.;.	K	2071;1968;1975;655	ENSP00000268712:Q2071K;ENSP00000379192:Q1968K;ENSP00000379198:Q655K	ENSP00000268712:Q2071K	Q	-	1	0	NCOR1	15901734	1.000000	0.71417	0.957000	0.39632	0.866000	0.49608	8.816000	0.91979	2.396000	0.81511	0.655000	0.94253	CAG		0.398	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		T	15961009	G	T	15961009	3	4	50	1	0	0	0	0	1	0	0	0	10237	1328	46	4	1139	4	NCOR1	17	15961009	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	7819612	15961009	65234201	80	3709											
SLFN11	91607	broad.mit.edu;hgsc.bcm.edu	37	17	33689790	33689790	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:33689790T>G	ENST00000394566.1	-	4	1309	c.1037A>C	c.(1036-1038)aAa>aCa	p.K346T	SLFN11_ENST00000308377.4_Missense_Mutation_p.K346T	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	346					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.K346T(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCTACCCATTTCTCGGTTGT	0.483																																																1	Substitution - Missense(1)	kidney(1)											90	81	84					17																	33689790		2203	4300	6503	SO:0001583	missense	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1037A>C	17.37:g.33689790T>G	ENSP00000378067:p.Lys346Thr		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846897	0.32606	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.59364	0.27;0.27	4.14	4.14	0.48551	.	0.662299	0.12337	N	0.477857	T	0.47655	0.1457	L	0.36672	1.1	0.09310	N	1	B	0.19445	0.036	B	0.17979	0.02	T	0.44862	-0.9300	10	0.87932	D	0	.	9.4975	0.38997	0.0:0.0:0.0:1.0	.	346	Q7Z7L1	SLN11_HUMAN	T	346	ENSP00000312402:K346T;ENSP00000378067:K346T	ENSP00000312402:K346T	K	-	2	0	SLFN11	30713903	0.128000	0.22383	0.000000	0.03702	0.006000	0.05464	4.395000	0.59678	1.739000	0.51704	0.528000	0.53228	AAA		0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		G	33689790	T	G	33689790	3	3	50	1	0	0	0	0	1	0	0	0	14739	1841	64	5	1684	5	SLFN11	17	33689790	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08	17728781	33689790	47505420	81	3710											
PLXDC1	57125	broad.mit.edu	37	17	37265509	37265509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:37265509G>A	ENST00000315392.4	-	3	602	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	PLXDC1_ENST00000444911.2_Nonsense_Mutation_p.Q91*|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Nonsense_Mutation_p.Q58*|PLXDC1_ENST00000394316.2_Nonsense_Mutation_p.Q131*	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	131					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)	p.Q131*(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACCGAAGCCTGCCGGTGGGTG	0.662																																																1	Substitution - Nonsense(1)	kidney(1)											101	90	94					17																	37265509		2203	4300	6503	SO:0001587	stop_gained	57125			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.391C>T	17.37:g.37265509G>A	ENSP00000323927:p.Gln131*		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Nonsense_Mutation	SNP	ENST00000315392.4	37	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	G	36	5.942266	0.97128	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877;ENST00000415163	.	.	.	4.86	4.86	0.63082	.	0.307836	0.32578	N	0.005902	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-19.9574	16.9265	0.86178	0.0:0.0:1.0:0.0	.	.	.	.	X	131;58;58;91;131;58;58	.	ENSP00000323927:Q131X	Q	-	1	0	PLXDC1	34519035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.350000	0.97070	2.411000	0.81874	0.563000	0.77884	CAG		0.662	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		A	37265509	G	A	37265509	4	1	50	1	0	0	0	0	0	1	0	0	12119	1328	46	2	1159	2	PLXDC1	17	37265509	Nonsense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	3575719	37265509	43929701	82	3711											
TUBG1	7283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40764111	40764111	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:40764111G>A	ENST00000251413.3	+	4	411	c.349G>A	c.(349-351)Gac>Aac	p.D117N	FAM134C_ENST00000309428.5_5'Flank|FAM134C_ENST00000585894.1_5'Flank|FAM134C_ENST00000543197.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	117					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.D117N(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GATCCATGAGGACATTTTTGA	0.522																																					Colon(20;114 698 11420 22864)											1	Substitution - Missense(1)	kidney(1)											103	92	96					17																	40764111		2203	4300	6503	SO:0001583	missense	7283			BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.349G>A	17.37:g.40764111G>A	ENSP00000251413:p.Asp117Asn		Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833943	0.50951	.	.	ENSG00000131462	ENST00000251413	T	0.69926	-0.44	5.37	5.37	0.77165	Tubulin/FtsZ, GTPase domain (4);	0.138996	0.45606	U	0.000344	T	0.60104	0.2243	L	0.39898	1.24	0.80722	D	1	B	0.33857	0.429	B	0.29176	0.099	T	0.64437	-0.6408	10	0.87932	D	0	-14.4445	18.7557	0.91832	0.0:0.0:1.0:0.0	.	117	P23258	TBG1_HUMAN	N	117	ENSP00000251413:D117N	ENSP00000251413:D117N	D	+	1	0	TUBG1	38017637	1.000000	0.71417	0.999000	0.59377	0.070000	0.16714	9.729000	0.98795	2.519000	0.84933	0.467000	0.42956	GAC		0.522	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		A	40764111	G	A	40764111	3	1	50	1	0	0	0	0	1	0	0	0	16769	1174	41	2	363	2	TUBG1	17	40764111	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	3498602	40764111	40431099	83	3712											
IMP5	162540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	43923235	43923235	+	Silent	SNP	G	G	A	rs140813443	byFrequency	TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:43923235G>A	ENST00000329196.5	+	1	980	c.963G>A	c.(961-963)ccG>ccA	p.P321P	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	321						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.P321P(1)									CCTCTCTGCCGCTGCCTCTGC	0.662													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18204	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	42	43	43		963	0.8	0	17	dbSNP_134	43	0,8600		0,0,4300	no	coding-synonymous	IMP5	NM_175882.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		321/685	43923235	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.963G>A	17.37:g.43923235G>A			Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	CCDS32673.1																																																																																				0.662	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		A	43923235	G	A	43923235	2	1	50	1	0	0	0	0	0	0	0	1	7723	1074	38	1		1	IMP5	17	43923235	Silent	SNP	G	TCGA-A3-3357-01A-02D-1421-08	3159124	43923235	37271975	84	3713											
PAF1	55588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39880356	39880356	+	5'Flank	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:39880356A>G	ENST00000599213.2	+	0	0				PAF1_ENST00000221265.3_Silent_p.H72H|PAF1_ENST00000595564.1_Silent_p.H62H|PAF1_ENST00000221266.7_Silent_p.H62H|MED29_ENST00000594368.1_5'Flank|MED29_ENST00000315588.5_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)		p.H72H(1)		lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCAGGAGGTCATGTTTGTGCT	0.552																																																1	Substitution - coding silent(1)	kidney(1)											199	171	180					19																	39880356		2203	4300	6503	SO:0001631	upstream_gene_variant	54623			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880356A>G	Exception_encountered		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37																																																																																					0.552	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		G	39880356	A	G	39880356	1	3	50	0	1	0	0	0	0	0	0	0	11385	214	8	3		3	PAF1	19	39880356	5'Flank	SNP	A	TCGA-A3-3357-01A-02D-1421-08		39880356	19248627	85	3714											
ZNF284	342909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44589959	44589959	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:44589959G>A	ENST00000421176.3	+	5	544	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E110K(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AACTGCAAGTGAGTTAACTAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											100	97	98					19																	44589959		2203	4300	6503	SO:0001583	missense	342909			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.328G>A	19.37:g.44589959G>A	ENSP00000411032:p.Glu110Lys		Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	5.929	0.355386	0.11239	.	.	ENSG00000186026	ENST00000421176	T	0.04706	3.57	1.94	-0.492	0.12041	.	.	.	.	.	T	0.02156	0.0067	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.20184	0.028	T	0.47611	-0.9104	9	0.06757	T	0.87	.	2.5131	0.04661	0.1817:0.0:0.5337:0.2846	.	110	Q2VY69	ZN284_HUMAN	K	110	ENSP00000411032:E110K	ENSP00000411032:E110K	E	+	1	0	ZNF284	49281799	0.002000	0.14202	0.000000	0.03702	0.048000	0.14542	0.905000	0.28504	-0.046000	0.13446	-0.448000	0.05591	GAG		0.468	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		A	44589959	G	A	44589959	3	1	50	1	0	0	0	0	1	0	0	0	17826	1291	45	2	342	2	ZNF284	19	44589959	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	4709603	44589959	14539024	86	3715											
SPHK2	56848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49129392	49129392	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:49129392C>T	ENST00000245222.4	+	3	650	c.284C>T	c.(283-285)gCc>gTc	p.A95V	SPHK2_ENST00000340932.3_Missense_Mutation_p.A59V|SPHK2_ENST00000599029.1_Missense_Mutation_p.A59V|AC022154.7_ENST00000594850.1_RNA|SPHK2_ENST00000443164.1_Missense_Mutation_p.A157V|AC022154.7_ENST00000600303.1_RNA|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000600537.1_Missense_Mutation_p.A36V|SPHK2_ENST00000599748.1_Missense_Mutation_p.A59V|SPHK2_ENST00000601712.1_Missense_Mutation_p.A59V|SPHK2_ENST00000598088.1_Missense_Mutation_p.A95V|SPHK2_ENST00000599033.1_3'UTR	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	95	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.A95V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTCCCGTTGGCCGAGGTCTCA	0.701																																																1	Substitution - Missense(1)	kidney(1)											20	24	22					19																	49129392		2198	4292	6490	SO:0001583	missense	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.284C>T	19.37:g.49129392C>T	ENSP00000245222:p.Ala95Val		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015275	0.35511	.	.	ENSG00000063176	ENST00000245222;ENST00000340932;ENST00000443164	T;T;T	0.25579	2.15;1.86;1.79	3.98	2.9	0.33743	.	0.617003	0.15137	N	0.278515	T	0.14184	0.0343	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B	0.25955	0.003;0.068;0.138;0.009	B;B;B;B	0.23852	0.002;0.014;0.049;0.006	T	0.21552	-1.0242	10	0.26408	T	0.33	-27.0248	6.6161	0.22778	0.215:0.5938:0.1913:0.0	.	36;157;59;95	B4DU87;A0T4C8;Q9NRA0-3;Q9NRA0	.;.;.;SPHK2_HUMAN	V	95;59;157	ENSP00000245222:A95V;ENSP00000341091:A59V;ENSP00000413369:A157V	ENSP00000245222:A95V	A	+	2	0	SPHK2	53821204	0.001000	0.12720	0.783000	0.31826	0.980000	0.70556	0.626000	0.24492	0.957000	0.37930	0.557000	0.71058	GCC		0.701	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			T	49129392	C	T	49129392	3	4	50	1	0	0	0	0	1	0	0	0	15052	739	26	2	290	2	SPHK2	19	49129392	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08	4539433	49129392	9999591	87	3716											
SYT3	84258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51140596	51140596	+	Silent	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:51140596G>T	ENST00000338916.4	-	1	706	c.73C>A	c.(73-75)Cga>Aga	p.R25R	SYT3_ENST00000544769.1_Silent_p.R25R|SYT3_ENST00000593901.1_Silent_p.R25R|SYT3_ENST00000600079.1_Silent_p.R25R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	25					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.R25R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCAGCATCTCGGACCCGCGCA	0.632																																																1	Substitution - coding silent(1)	kidney(1)											56	53	54					19																	51140596		2203	4300	6503	SO:0001819	synonymous_variant	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.73C>A	19.37:g.51140596G>T			Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	CCDS12798.1																																																																																				0.632	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		T	51140596	G	T	51140596	2	4	50	1	0	0	0	0	0	0	0	1	15480	1124	39	4		4	SYT3	19	51140596	Silent	SNP	G	TCGA-A3-3357-01A-02D-1421-08	2011204	51140596	7988387	88	3717											
ZNF610	162963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52869689	52869689	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:52869689T>A	ENST00000403906.3	+	6	1514	c.1058T>A	c.(1057-1059)tTt>tAt	p.F353Y	ZNF610_ENST00000327920.8_Missense_Mutation_p.F353Y|ZNF610_ENST00000321287.8_Missense_Mutation_p.F353Y|ZNF610_ENST00000601151.1_Missense_Mutation_p.F310Y	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F353Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGCAAGGTCTTTAGTCTGCTT	0.428																																																1	Substitution - Missense(1)	kidney(1)											88	90	89					19																	52869689		2203	4300	6503	SO:0001583	missense	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1058T>A	19.37:g.52869689T>A	ENSP00000383922:p.Phe353Tyr		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.155811	0.38021	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.40476	1.03;1.03	1.58	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61937	0.2387	M	0.81497	2.545	0.19775	N	0.999958	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	T	0.47262	-0.9131	9	0.72032	D	0.01	.	7.955	0.30038	0.0:0.0:0.0:1.0	.	310;353	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	Y	353;310;353	ENSP00000383922:F353Y;ENSP00000327597:F353Y	ENSP00000324441:F310Y	F	+	2	0	ZNF610	57561501	0.966000	0.33281	0.193000	0.23327	0.269000	0.26545	2.029000	0.41098	0.695000	0.31675	0.260000	0.18958	TTT		0.428	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		A	52869689	T	A	52869689	3	1	50	1	0	0	0	0	1	0	0	0	18041	1841	64	5	1072	5	ZNF610	19	52869689	Missense_Mutation	SNP	T	TCGA-A3-3357-01A-02D-1421-08	1729093	52869689	6259294	89	3718											
SYT5	6861	broad.mit.edu	37	19	55686593	55686593	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:55686593G>T	ENST00000354308.3	-	6	1024	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.L216M|SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000537500.1_Missense_Mutation_p.L219M	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	219					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.L219M(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGCCGCCCCAGGTCCACGGAG	0.726																																																1	Substitution - Missense(1)	kidney(1)											24	23	24					19																	55686593		2200	4296	6496	SO:0001583	missense	6861			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.655C>A	19.37:g.55686593G>T	ENSP00000346265:p.Leu219Met		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277513	0.80580	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.09630	2.96;2.96	4.34	-2.91	0.05631	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.38427	0.1040	H	0.95043	3.615	0.40639	D	0.981928	P;D;D	0.65815	0.895;0.995;0.995	P;P;D	0.66084	0.641;0.804;0.941	T	0.58317	-0.7657	10	0.87932	D	0	.	14.1687	0.65495	0.2252:0.0:0.7748:0.0	.	216;219;219	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	M	219;219;216	ENSP00000442896:L219M;ENSP00000346265:L219M	ENSP00000346265:L219M	L	-	1	2	SYT5	60378405	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	0.552000	0.23376	-0.558000	0.06118	-0.300000	0.09419	CTG		0.726	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		T	55686593	G	T	55686593	3	4	50	1	0	0	0	0	1	0	0	0	15482	991	35	4	521	4	SYT5	19	55686593	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	2816904	55686593	3442390	90	3719											
C20orf141	128653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2795845	2795845	+	Silent	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr20:2795845C>T	ENST00000380589.4	+	1	189	c.15C>T	c.(13-15)tgC>tgT	p.C5C	TMEM239_ENST00000380585.1_5'Flank|C20orf141_ENST00000603872.1_Silent_p.C5C|TMEM239_ENST00000361033.1_5'Flank|TMEM239_ENST00000380593.4_Silent_p.C5C|TMEM239_ENST00000554164.1_Silent_p.C5C	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	5						integral component of membrane (GO:0016021)		p.C5C(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						CCCGGCTCTGCTTACCCAGAC	0.607																																																1	Substitution - coding silent(1)	kidney(1)											84	92	89					20																	2795845		2203	4300	6503	SO:0001819	synonymous_variant	128653				CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.15C>T	20.37:g.2795845C>T				Silent	SNP	ENST00000380589.4	37	CCDS13034.1																																																																																				0.607	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077644.2	NM_080739		T	2795845	C	T	2795845	2	4	50	1	0	0	0	0	0	0	0	1	2091	805	28	2		2	C20orf141	20	2795845	Silent	SNP	C	TCGA-A3-3357-01A-02D-1421-08		2795845	60229675	91	3720											
KIF16B	55614	broad.mit.edu;hgsc.bcm.edu	37	20	16316573	16316574	+	Missense_Mutation	DNP	CT	CT	TG			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr20:16316573_16316574CT>TG	ENST00000354981.2	-	24	3865_3866	c.3708_3709AG>CA	c.(3706-3711)gcAGag>gcCAag	p.E1237K	KIF16B_ENST00000378003.2_Missense_Mutation_p.E422K|KIF16B_ENST00000355755.3_Intron	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1237	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.E1237K(2)|p.A1236A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TAACTTACCTCTGCATACTTTA	0.347																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3708_3709delinsTG	20.37:g.16316573_16316574delinsTG	ENSP00000347076:p.Glu1237Lys		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation|Silent	SNP	ENST00000354981.2	37	CCDS13122.1																																																																																				0.347	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		TG	16316574	CT	TG	16316573	3	4	50	1	0	0	0	0	1	0	0	0	8280	922	32	2	256	2	KIF16B	20	16316573	Missense_Mutation	DNP	CT	TCGA-A3-3357-01A-02D-1421-08	13520728	16316573	46708947	92	3721											
GGT7	2686	broad.mit.edu;hgsc.bcm.edu	37	20	33433135	33433135	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr20:33433135A>C	ENST00000336431.5	-	15	2029	c.1985T>G	c.(1984-1986)cTg>cGg	p.L662R	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	662					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.L662R(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCTGCTCTACAGGATGGTGGC	0.602																																																1	Substitution - Missense(1)	kidney(1)											39	43	42					20																	33433135		1994	4158	6152	SO:0001583	missense	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1985T>G	20.37:g.33433135A>C	ENSP00000338964:p.Leu662Arg		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905214	0.52333	.	.	ENSG00000131067	ENST00000336431	T	0.06768	3.26	4.97	2.72	0.32119	.	0.291210	0.30859	N	0.008721	T	0.05868	0.0153	N	0.19112	0.55	0.40694	D	0.982429	B	0.29085	0.232	B	0.29524	0.103	T	0.36237	-0.9756	10	0.87932	D	0	-7.3456	8.4434	0.32828	0.8366:0.0:0.1634:0.0	.	662	Q9UJ14	GGT7_HUMAN	R	662	ENSP00000338964:L662R	ENSP00000338964:L662R	L	-	2	0	GGT7	32896796	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.985000	0.49362	0.387000	0.25024	0.533000	0.62120	CTG		0.602	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		C	33433135	A	C	33433135	3	2	50	1	0	0	0	0	1	0	0	0	6366	188	7	5	7	5	GGT7	20	33433135	Missense_Mutation	SNP	A	TCGA-A3-3357-01A-02D-1421-08	17116562	33433135	29592385	93	3722											
BRWD1	54014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	40636400	40636400	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr21:40636400C>G	ENST00000333229.2	-	17	2198	c.1871G>C	c.(1870-1872)gGc>gCc	p.G624A	BRWD1_ENST00000342449.3_Missense_Mutation_p.G624A|BRWD1_ENST00000380800.3_Missense_Mutation_p.G624A	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	624					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G624A(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGCCACATAGCCCAGCTGTGG	0.323																																					Melanoma(170;988 1986 4794 16843 39731)											2	Substitution - Missense(2)	kidney(2)											85	77	80					21																	40636400		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1871G>C	21.37:g.40636400C>G	ENSP00000330753:p.Gly624Ala		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647418	0.67358	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.61392	0.11;0.17;0.24	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000002	T	0.76278	0.3965	M	0.70275	2.135	0.80722	D	1	D;D;P;D	0.89917	0.999;0.998;0.938;1.0	D;D;D;D	0.87578	0.996;0.977;0.911;0.998	T	0.76844	-0.2809	10	0.51188	T	0.08	-6.5097	19.066	0.93110	0.0:1.0:0.0:0.0	.	335;335;624;624	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6	.;.;.;BRWD1_HUMAN	A	624	ENSP00000330753:G624A;ENSP00000344333:G624A;ENSP00000370178:G624A	ENSP00000330753:G624A	G	-	2	0	BRWD1	39558270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.674000	0.68117	2.522000	0.85027	0.650000	0.86243	GGC		0.323	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		G	40636400	C	G	40636400	3	3	50	1	0	0	0	0	1	0	0	0	1527	739	26	4	5434	4	BRWD1	21	40636400	Missense_Mutation	SNP	C	TCGA-A3-3357-01A-02D-1421-08		40636400	7493495	94	3723											
PI4KA	5297	hgsc.bcm.edu	37	22	21068764	21068765	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr22:21068764_21068765insA	ENST00000572273.1	-	47	5498_5499	c.5268_5269insT	c.(5266-5271)gttagtfs	p.S1757fs	PI4KA_ENST00000414196.3_Frame_Shift_Ins_p.S567fs|PI4KA_ENST00000255882.6_Frame_Shift_Ins_p.S1815fs			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1757	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity. {ECO:0000250}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCAAGTTCACTAACTCCACATC	0.426																																					GBM(136;1332 1831 3115 23601 50806)											0																																										SO:0001589	frameshift_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5269dupT	22.37:g.21068766_21068766dupA	ENSP00000458238:p.Ser1757fs		Q7Z625|Q9UPG2	Frame_Shift_Del	INS	ENST00000572273.1	37																																																																																					0.426	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21068765	-	A	21068764	7	5	50	1	0	1	1	0	0	0	0	0	11875	1522	53	0	901	0	PI4KA	22	21068764	Frame_Shift_Ins	INS	-	TCGA-A3-3357-01A-02D-1421-08		21068764	30235802	95	3724											
TOM1	10043	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	35719146	35719146	+	Silent	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr22:35719146T>C	ENST00000449058.2	+	4	467	c.342T>C	c.(340-342)caT>caC	p.H114H	TOM1_ENST00000382034.5_Silent_p.H47H|TOM1_ENST00000425375.1_Silent_p.H114H|TOM1_ENST00000447733.1_Silent_p.H81H|TOM1_ENST00000411850.1_Silent_p.H114H|TOM1_ENST00000436462.2_Silent_p.H76H	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	114	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)	p.H114H(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCATCGTGCATGACAAAGTGC	0.622																																																1	Substitution - coding silent(1)	kidney(1)											128	76	94					22																	35719146		2203	4300	6503	SO:0001819	synonymous_variant	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"target of myb1 (chicken) homolog"			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.342T>C	22.37:g.35719146T>C			B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	ENST00000449058.2	37	CCDS13913.1																																																																																				0.622	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		C	35719146	T	C	35719146	2	2	50	1	0	0	0	0	0	0	0	1	16356	1461	51	3		3	TOM1	22	35719146	Silent	SNP	T	TCGA-A3-3357-01A-02D-1421-08	14650382	35719146	15585420	96	3725											
TNRC6B	23112	broad.mit.edu	37	22	40662297	40662297	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr22:40662297A>C	ENST00000454349.2	+	5	2274	c.2063A>C	c.(2062-2064)gAg>gCg	p.E688A	TNRC6B_ENST00000335727.9_Missense_Mutation_p.E688A|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	688	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GCCTCTACAGAGTGGAAAGAC	0.537																																																0													21	23	22					22																	40662297		1876	4134	6010	SO:0001583	missense	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2063A>C	22.37:g.40662297A>C	ENSP00000401946:p.Glu688Ala		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.595|8.595	0.885598|0.885598	0.17540|0.17540	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T|.	0.12361|.	2.69;2.7|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.157497|.	0.56097|.	D|.	0.000036|.	T|T	0.57080|0.57080	0.2029|0.2029	L|L	0.34521|0.34521	1.04|1.04	0.44523|0.44523	D|D	0.997472|0.997472	D;P;D|.	0.58268|.	0.982;0.956;0.974|.	D;P;D|.	0.67725|.	0.952;0.899;0.953|.	T|T	0.54002|0.54002	-0.8358|-0.8358	10|5	0.09338|.	T|.	0.73|.	-9.3924|-9.3924	15.4632|15.4632	0.75377|0.75377	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	688;688;688|.	Q9UPQ9;A8MYY3;Q9UPQ9-1|.	TNR6B_HUMAN;.;.|.	A|R	688|431	ENSP00000401946:E688A;ENSP00000338371:E688A|.	ENSP00000338371:E688A|.	E|S	+|+	2|1	0|0	TNRC6B|TNRC6B	38992243|38992243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	3.634000|3.634000	0.54302|0.54302	2.069000|2.069000	0.61940|0.61940	0.260000|0.260000	0.18958|0.18958	GAG|AGT		0.537	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				C	40662297	A	C	40662297	3	2	50	1	0	0	0	0	1	0	0	0	16346	304	11	5	2202	5	TNRC6B	22	40662297	Missense_Mutation	SNP	A	TCGA-A3-3357-01A-02D-1421-08	4943151	40662297	10642269	97	3726											
TCF20	6942	broad.mit.edu;ucsc.edu	37	22	42607966	42607966	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr22:42607966G>T	ENST00000359486.3	-	1	3482	c.3346C>A	c.(3346-3348)Cag>Aag	p.Q1116K	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.Q1116K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Q1116K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGCCCCTCCTGCCTGTGCTGT	0.512																																																1	Substitution - Missense(1)	kidney(1)											81	80	80					22																	42607966		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3346C>A	22.37:g.42607966G>T	ENSP00000352463:p.Gln1116Lys		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719976	0.68844	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.60797	0.16;0.16	5.91	5.91	0.95273	.	0.098075	0.44688	D	0.000421	T	0.49677	0.1571	N	0.19112	0.55	0.80722	D	1	B;B	0.30605	0.287;0.189	B;B	0.33620	0.167;0.081	T	0.47787	-0.9090	10	0.51188	T	0.08	-13.351	20.2983	0.98569	0.0:0.0:1.0:0.0	.	1116;1116	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	1116	ENSP00000352463:Q1116K;ENSP00000335561:Q1116K	ENSP00000335561:Q1116K	Q	-	1	0	TCF20	40937910	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.716000	0.74702	2.802000	0.96397	0.655000	0.94253	CAG		0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		T	42607966	G	T	42607966	3	4	50	1	0	0	0	0	1	0	0	0	15695	1328	46	4	2574	4	TCF20	22	42607966	Missense_Mutation	SNP	G	TCGA-A3-3357-01A-02D-1421-08	1945669	42607966	8696600	98	3727											
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16255505	16255505	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr1:16255505C>T	ENST00000375759.3	+	11	2974	c.2770C>T	c.(2770-2772)Cct>Tct	p.P924S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	924					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P924S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCAGACGGAGCCTGCAAAATC	0.453																																																1	Substitution - Missense(1)	kidney(1)											147	162	157					1																	16255505		2203	4299	6502	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2770C>T	1.37:g.16255505C>T	ENSP00000364912:p.Pro924Ser		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	5.171	0.217112	0.09810	.	.	ENSG00000065526	ENST00000375759	T	0.46451	0.87	5.2	2.22	0.28083	.	.	.	.	.	T	0.29945	0.0749	L	0.44542	1.39	0.26879	N	0.96757	B	0.17852	0.024	B	0.10450	0.005	T	0.22173	-1.0224	9	0.11182	T	0.66	-22.8871	8.0753	0.30712	0.1195:0.6953:0.1162:0.069	.	924	Q96T58	MINT_HUMAN	S	924	ENSP00000364912:P924S	ENSP00000364912:P924S	P	+	1	0	SPEN	16128092	0.144000	0.22641	1.000000	0.80357	0.877000	0.50540	0.629000	0.24538	1.422000	0.47177	-0.150000	0.13652	CCT		0.453	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16255505	C	T	16255505	3	4	51	1	0	0	0	0	1	0	0	0	15043	739	26	2	2812	2	SPEN	1	16255505	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10		16255505	232995116	1	3728											
CDC7	8317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	91978791	91978791	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr1:91978791C>T	ENST00000428239.1	+	7	1008	c.749C>T	c.(748-750)tCc>tTc	p.S250F	CDC7_ENST00000234626.6_Missense_Mutation_p.S250F|CDC7_ENST00000430031.2_Missense_Mutation_p.S222F	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S250F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GATCAGCAGTCCACCACAAAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											87	90	89					1																	91978791		2203	4300	6503	SO:0001583	missense	8317			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.749C>T	1.37:g.91978791C>T	ENSP00000393139:p.Ser250Phe		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	CCDS734.1	.	.	.	.	.	.	.	.	.	.	C	6.183	0.401964	0.11696	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.52526	0.66;0.82;0.82	5.79	2.86	0.33363	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.878152	0.10226	N	0.700316	T	0.15739	0.0379	L	0.28556	0.865	0.09310	N	1	P;P	0.35383	0.498;0.498	B;B	0.32342	0.133;0.144	T	0.12167	-1.0558	10	0.44086	T	0.13	-14.3994	8.4587	0.32915	0.0:0.513:0.3555:0.1315	.	222;250	B7Z5H7;O00311	.;CDC7_HUMAN	F	222;250;250	ENSP00000407477:S222F;ENSP00000234626:S250F;ENSP00000393139:S250F	ENSP00000234626:S250F	S	+	2	0	CDC7	91751379	0.155000	0.22806	0.013000	0.15412	0.950000	0.60333	0.743000	0.26231	0.335000	0.23614	0.557000	0.71058	TCC		0.408	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		T	91978791	C	T	91978791	3	4	51	1	0	0	0	0	1	0	0	0	3086	855	30	2	771	2	CDC7	1	91978791	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	75723286	91978791	157271830	2	3729											
PIP5K1A	8394	hgsc.bcm.edu	37	1	151206687	151206687	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr1:151206687delC	ENST00000368888.4	+	8	1076	c.654delC	c.(652-654)aacfs	p.N218fs	PIP5K1A_ENST00000441902.2_Frame_Shift_Del_p.N206fs|PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000409426.1_Frame_Shift_Del_p.N206fs|PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000368890.4_Frame_Shift_Del_p.N205fs	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	218	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAACCAGAACCCTCGGACTT	0.443																																					Pancreas(80;36 1443 2325 16095 21302)											0													105	96	99					1																	151206687		2203	4300	6503	SO:0001589	frameshift_variant	8394			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.654delC	1.37:g.151206687delC	ENSP00000357883:p.Asn218fs		A8K4Q0|B4DIN0|Q99754|Q99756	Frame_Shift_Del	DEL	ENST00000368888.4	37	CCDS44219.1																																																																																				0.443	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		-	151206687	C	-	151206687	7	5	51	1	0	1	0	1	0	0	0	0	11941	506	18	0	684	0	PIP5K1A	1	151206687	Frame_Shift_Del	DEL	C	TCGA-A3-3358-01A-01D-1534-10	59227896	151206687	98043934	3	3730											
SPTA1	6708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158609713	158609713	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr1:158609713G>A	ENST00000368147.4	-	34	5002	c.4822C>T	c.(4822-4824)Cgt>Tgt	p.R1608C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1608					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1608C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTGTTGACGACTGGCCTCA	0.463																																																1	Substitution - Missense(1)	kidney(1)											201	185	190					1																	158609713		1922	4122	6044	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4822C>T	1.37:g.158609713G>A	ENSP00000357129:p.Arg1608Cys		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934058	0.73442	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36699	1.24;1.24	5.53	3.63	0.41609	.	0.000000	0.32134	N	0.006521	T	0.41305	0.1153	M	0.68952	2.095	0.49051	D	0.999743	D	0.89917	1.0	D	0.72625	0.978	T	0.43032	-0.9416	10	0.87932	D	0	.	6.8686	0.24108	0.0801:0.0:0.5059:0.4139	.	1608	P02549	SPTA1_HUMAN	C	1608	ENSP00000357130:R1608C;ENSP00000357129:R1608C	ENSP00000357129:R1608C	R	-	1	0	SPTA1	156876337	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.110000	0.64622	0.854000	0.35336	-0.136000	0.14681	CGT		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		A	158609713	G	A	158609713	3	1	51	1	0	0	0	0	1	0	0	0	15121	1058	37	1	2513	1	SPTA1	1	158609713	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	7403026	158609713	90640908	4	3731											
C1orf129	80133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	170914714	170914714	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr1:170914714C>T	ENST00000367758.3	+	2	116	c.17C>T	c.(16-18)cCa>cTa	p.P6L	MROH9_ENST00000367759.4_Missense_Mutation_p.P6L	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	6								p.P6L(2)									ACAAGGAATCCAAAAACAAGT	0.358																																																2	Substitution - Missense(2)	kidney(2)											123	109	114					1																	170914714		1875	4105	5980	SO:0001583	missense	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.17C>T	1.37:g.170914714C>T	ENSP00000356732:p.Pro6Leu		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	6.822	0.520756	0.13005	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.14640	4.13;2.49	2.59	-5.19	0.02832	.	.	.	.	.	T	0.01592	0.0051	N	0.19112	0.55	0.09310	N	1	B;B	0.29552	0.103;0.248	B;B	0.16289	0.015;0.015	T	0.38373	-0.9664	9	0.62326	D	0.03	.	1.6181	0.02708	0.1991:0.3976:0.2499:0.1533	.	6;6	F5GWX6;Q5TGP6	.;CA129_HUMAN	L	6	ENSP00000356733:P6L;ENSP00000356732:P6L	ENSP00000356732:P6L	P	+	2	0	C1orf129	169181338	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.369000	0.02578	-1.623000	0.01558	-0.457000	0.05445	CCA		0.358	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		T	170914714	C	T	170914714	3	4	51	1	0	0	0	0	1	0	0	0	1998	594	21	2	19	2	C1orf129	1	170914714	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	12305001	170914714	78335907	5	3732											
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	185985179	185985179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr1:185985179G>T	ENST00000271588.4	+	32	5228	c.4999G>T	c.(4999-5001)Gga>Tga	p.G1667*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.G1667*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1667	Ig-like C2-type 14.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G1667*(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAAGCTGCTGGAAACCCTTC	0.448																																																1	Substitution - Nonsense(1)	kidney(1)											104	97	99					1																	185985179		2203	4300	6503	SO:0001587	stop_gained	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4999G>T	1.37:g.185985179G>T	ENSP00000271588:p.Gly1667*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	47	12.996478	0.99712	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	1667	.	ENSP00000271588:G1667X	G	+	1	0	HMCN1	184251802	1.000000	0.71417	0.991000	0.47740	0.588000	0.36517	9.041000	0.93788	2.941000	0.99782	0.655000	0.94253	GGA		0.448	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185985179	G	T	185985179	4	4	51	1	0	0	0	0	0	1	0	0	7222	1349	47	4	5125	4	HMCN1	1	185985179	Nonsense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	15070465	185985179	63265442	6	3733											
KIF21B	23046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200943295	200943295	+	Silent	SNP	G	G	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr1:200943295G>A	ENST00000422435.2	-	35	5158	c.4842C>T	c.(4840-4842)taC>taT	p.Y1614Y	KIF21B_ENST00000461742.2_Intron|KIF21B_ENST00000360529.5_Intron|KIF21B_ENST00000332129.2_Silent_p.Y1601Y	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1614					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y1601Y(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTCCAGGGACGTAATTCCACA	0.627																																																1	Substitution - coding silent(1)	kidney(1)											88	87	87					1																	200943295		2203	4300	6503	SO:0001819	synonymous_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4842C>T	1.37:g.200943295G>A			B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																				0.627	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		A	200943295	G	A	200943295	2	1	51	1	0	0	0	0	0	0	0	1	8291	1140	40	1		1	KIF21B	1	200943295	Silent	SNP	G	TCGA-A3-3358-01A-01D-1534-10	14958116	200943295	48307326	7	3734											
NENF	29937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	212619210	212619210	+	Silent	SNP	G	G	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr1:212619210G>A	ENST00000366988.3	+	4	438	c.381G>A	c.(379-381)gaG>gaA	p.E127E	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	127	Cytochrome b5 heme-binding.				positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)	p.E127E(1)		endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		CCCTGGATGAGGTCTTCACCA	0.537																																																1	Substitution - coding silent(1)	kidney(1)											122	120	121					1																	212619210		2203	4300	6503	SO:0001819	synonymous_variant	29937				CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"neudesin"	611874	"neuron derived neurotrophic factor"			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.381G>A	1.37:g.212619210G>A			A1KYQ8|Q53FZ6|Q5TM90	Silent	SNP	ENST00000366988.3	37	CCDS1505.1																																																																																				0.537	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089291.1	NM_013349		A	212619210	G	A	212619210	2	1	51	1	0	0	0	0	0	0	0	1	10337	991	35	2		2	NENF	1	212619210	Silent	SNP	G	TCGA-A3-3358-01A-01D-1534-10	11675915	212619210	36631411	8	3735											
PPPDE1	51029	broad.mit.edu	37	1	244868992	244868992	+	Silent	SNP	A	A	G			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr1:244868992A>G	ENST00000302550.11	+	5	865	c.486A>G	c.(484-486)gaA>gaG	p.E162E	DESI2_ENST00000263831.7_Silent_p.E129E	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	162						cytoplasm (GO:0005737)	peptidase activity (GO:0008233)	p.E162E(1)									TCAGCCAAGAACTCCAGGATG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											64	67	66					1																	244868992		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"chromosome 1 open reading frame 121", "family with sequence similarity 152, member A", "PPPDE peptidase domain containing 1"	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.486A>G	1.37:g.244868992A>G			B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Silent	SNP	ENST00000302550.11	37	CCDS1626.1																																																																																				0.572	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097168.1	NM_016076		G	244868992	A	G	244868992	2	3	51	1	0	0	0	0	0	0	0	1	12413	40	2	3		3	PPPDE1	1	244868992	Silent	SNP	A	TCGA-A3-3358-01A-01D-1534-10	32249782	244868992	4381629	9	3736											
OR6F1	343169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247875599	247875599	+	Missense_Mutation	SNP	G	G	T	rs144440883	byFrequency	TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr1:247875599G>T	ENST00000302084.2	-	1	506	c.459C>A	c.(457-459)ttC>ttA	p.F153L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F153L(1)|p.F153F(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAATGGCCACGAAACCACACA	0.587																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(1)|skin(1)											67	76	73					1																	247875599		2203	4300	6503	SO:0001583	missense	343169			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.459C>A	1.37:g.247875599G>T	ENSP00000305640:p.Phe153Leu		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	8.355	0.831887	0.16820	.	.	ENSG00000169214	ENST00000302084	T	0.00039	8.85	3.99	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000322	T	0.00241	0.0007	L	0.31578	0.945	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55592	-0.8117	10	0.35671	T	0.21	-51.7153	7.9368	0.29935	0.3717:0.0:0.6283:0.0	.	153	Q8NGZ6	OR6F1_HUMAN	L	153	ENSP00000305640:F153L	ENSP00000305640:F153L	F	-	3	2	OR6F1	245942222	0.000000	0.05858	0.007000	0.13788	0.032000	0.12392	-2.297000	0.01141	0.107000	0.17824	0.591000	0.81541	TTC		0.587	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		T	247875599	G	T	247875599	3	4	51	1	0	0	0	0	1	0	0	0	11203	1049	37	4	471	4	OR6F1	1	247875599	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	3006607	247875599	1375022	10	3737											
YIPF4	84272	broad.mit.edu;ucsc.edu	37	2	32517399	32517399	+	Silent	SNP	A	A	G			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr2:32517399A>G	ENST00000238831.4	+	3	633	c.387A>G	c.(385-387)tcA>tcG	p.S129S		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	129						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.S129S(1)		kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCATGATATCATTATATGGAC	0.299																																																1	Substitution - coding silent(1)	kidney(1)											111	108	109					2																	32517399		2203	4300	6503	SO:0001819	synonymous_variant	84272			AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"Yip1 domain family"	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.387A>G	2.37:g.32517399A>G				Silent	SNP	ENST00000238831.4	37	CCDS1781.1																																																																																				0.299	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250250.3	NM_032312		G	32517399	A	G	32517399	2	3	51	1	0	0	0	0	0	0	0	1	17485	204	8	3		3	YIPF4	2	32517399	Silent	SNP	A	TCGA-A3-3358-01A-01D-1534-10		32517399	210681974	11	3738											
TMEM150A	129303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	85828190	85828190	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr2:85828190C>T	ENST00000409668.1	-	3	621	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	TMEM150A_ENST00000306353.3_Silent_p.K21K|TMEM150A_ENST00000334462.5_Missense_Mutation_p.G52R			Q86TG1	T150A_HUMAN	transmembrane protein 150A	52					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G52R(1)		breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						TTGGGACCCCCTTGCTCAGCA	0.642																																																1	Substitution - Missense(1)	kidney(1)											57	50	52					2																	85828190		2203	4300	6503	SO:0001583	missense	129303			AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"transmembrane protein 150"	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.154G>A	2.37:g.85828190C>T	ENSP00000387292:p.Gly52Arg		A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	37	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998689	0.35226	.	.	ENSG00000168890	ENST00000334462;ENST00000409668	T;T	0.44482	0.92;0.92	5.06	4.18	0.49190	.	0.116572	0.64402	D	0.000020	T	0.28001	0.0690	L	0.40543	1.245	0.50813	D	0.999891	B	0.29552	0.248	B	0.25884	0.064	T	0.04255	-1.0965	10	0.08837	T	0.75	-27.3844	9.2416	0.37500	0.0:0.9006:0.0:0.0994	.	52	Q86TG1	T150A_HUMAN	R	52	ENSP00000334708:G52R;ENSP00000387292:G52R	ENSP00000334708:G52R	G	-	1	0	TMEM150A	85681701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.966000	0.63715	1.117000	0.41842	0.655000	0.94253	GGG		0.642	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		T	85828190	C	T	85828190	3	4	51	1	0	0	0	0	1	0	0	0	16072	681	24	2	681	2	TMEM150A	2	85828190	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	53310791	85828190	157371183	12	3739											
ERCC3	2071	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128036918	128036918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr2:128036918C>A	ENST00000285398.2	-	10	1655	c.1561G>T	c.(1561-1563)Gaa>Taa	p.E521*	ERCC3_ENST00000493187.2_Nonsense_Mutation_p.E457*	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	521					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.E521*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCCACATATTCCCGGTAAAAT	0.388			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"		E	1	Substitution - Nonsense(1)	kidney(1)											104	93	97					2																	128036918		2203	4300	6503	SO:0001587	stop_gained	2071	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1561G>T	2.37:g.128036918C>A	ENSP00000285398:p.Glu521*		Q53QM0	Nonsense_Mutation	SNP	ENST00000285398.2	37	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	43	9.870662	0.99284	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-32.2829	18.6656	0.91489	0.0:1.0:0.0:0.0	.	.	.	.	X	521;457	.	ENSP00000285398:E521X	E	-	1	0	ERCC3	127753388	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.560000	0.82277	2.643000	0.89663	0.591000	0.81541	GAA		0.388	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		A	128036918	C	A	128036918	4	1	51	1	0	0	0	0	0	1	0	0	5216	864	30	4	811	4	ERCC3	2	128036918	Nonsense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	42208728	128036918	115162455	13	3740											
GPD2	2820	broad.mit.edu;ucsc.edu	37	2	157426664	157426664	+	Silent	SNP	G	G	A	rs370358716		TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr2:157426664G>A	ENST00000310454.6	+	12	1914	c.1542G>A	c.(1540-1542)gtG>gtA	p.V514V	GPD2_ENST00000409674.1_Silent_p.V514V|GPD2_ENST00000438166.2_Silent_p.V514V|GPD2_ENST00000409125.4_Silent_p.V287V|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	514					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.V514V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TGGCAAGTGTGACTGGCAAAA	0.463																																																1	Substitution - coding silent(1)	kidney(1)						G	,	0,4406		0,0,2203	166	147	153		1542,1542	0.9	1	2		153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GPD2	NM_000408.4,NM_001083112.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	514/728,514/728	157426664	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2820				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1542G>A	2.37:g.157426664G>A			A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	CCDS2202.1																																																																																				0.463	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			A	157426664	G	A	157426664	2	1	51	1	0	0	0	0	0	0	0	1	6608	1277	45	2		2	GPD2	2	157426664	Silent	SNP	G	TCGA-A3-3358-01A-01D-1534-10	29389746	157426664	85772709	14	3741											
C2orf67	151050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	210889861	210889861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr2:210889861C>T	ENST00000281772.9	-	13	2794	c.2531G>A	c.(2530-2532)tGg>tAg	p.W844*	KANSL1L_ENST00000418791.1_Nonsense_Mutation_p.W802*	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	844						histone acetyltransferase complex (GO:0000123)		p.W844*(1)									GCTTTGCTCCCATAGTGACCA	0.398																																																1	Substitution - Nonsense(1)	kidney(1)											137	134	135					2																	210889861		2203	4300	6503	SO:0001587	stop_gained	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2531G>A	2.37:g.210889861C>T	ENSP00000281772:p.Trp844*		B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Nonsense_Mutation	SNP	ENST00000281772.9	37	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	39	7.828181	0.98513	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.3	5.3	0.74995	.	0.193233	0.37530	N	0.002042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9274	0.92550	0.0:1.0:0.0:0.0	.	.	.	.	X	844;802	.	ENSP00000281772:W844X	W	-	2	0	C2orf67	210598106	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	5.634000	0.67833	2.636000	0.89361	0.591000	0.81541	TGG		0.398	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		T	210889861	C	T	210889861	4	4	51	1	0	0	0	0	0	1	0	0	2188	595	21	2	444	2	C2orf67	2	210889861	Nonsense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	53463197	210889861	32309512	15	3742											
FN1	2335	broad.mit.edu;ucsc.edu	37	2	216274775	216274775	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr2:216274775G>C	ENST00000359671.1	-	14	2269	c.2004C>G	c.(2002-2004)atC>atG	p.I668M	FN1_ENST00000446046.1_Missense_Mutation_p.I668M|FN1_ENST00000443816.1_Missense_Mutation_p.I668M|FN1_ENST00000345488.5_Missense_Mutation_p.I668M|FN1_ENST00000356005.4_Missense_Mutation_p.I668M|FN1_ENST00000354785.4_Missense_Mutation_p.I668M|FN1_ENST00000357867.4_Missense_Mutation_p.I668M|FN1_ENST00000323926.6_Missense_Mutation_p.I668M|FN1_ENST00000336916.4_Missense_Mutation_p.I668M|FN1_ENST00000432072.2_Missense_Mutation_p.I668M|FN1_ENST00000346544.3_Missense_Mutation_p.I668M|FN1_ENST00000357009.2_Missense_Mutation_p.I668M|FN1_ENST00000421182.1_Missense_Mutation_p.I668M			P02751	FINC_HUMAN	fibronectin 1	668	Fibronectin type-III 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.I668M(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCAGGCCTTTGATGGTGTAGG	0.488																																																2	Substitution - Missense(2)	kidney(2)											178	169	172					2																	216274775		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2004C>G	2.37:g.216274775G>C	ENSP00000352696:p.Ile668Met		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	G	18.91	3.724634	0.68959	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.65	3.74	0.42951	.	0.000000	0.64402	D	0.000001	T	0.71324	0.3326	M	0.62723	1.935	0.80722	D	1	D;D;P;D;D;D;D;D;D;D	0.76494	0.982;0.999;0.888;0.997;0.998;0.998;0.992;0.997;0.997;0.983	D;D;P;D;D;D;D;D;D;D	0.97110	0.996;1.0;0.899;0.999;1.0;1.0;0.998;0.999;0.999;0.997	T	0.72802	-0.4183	10	0.87932	D	0	.	11.8622	0.52471	0.149:0.0:0.851:0.0	.	668;668;668;668;668;668;668;668;668;668	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	M	668	ENSP00000394423:I668M;ENSP00000323534:I668M;ENSP00000338200:I668M;ENSP00000350534:I668M;ENSP00000346839:I668M;ENSP00000352696:I668M;ENSP00000265312:I668M;ENSP00000273049:I668M;ENSP00000349509:I668M;ENSP00000410422:I668M;ENSP00000415018:I668M;ENSP00000399538:I668M;ENSP00000348285:I668M	ENSP00000265313:I668M	I	-	3	3	FN1	215983020	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.654000	0.46699	0.755000	0.32990	0.655000	0.94253	ATC		0.488	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		C	216274775	G	C	216274775	3	2	51	1	0	0	0	0	1	0	0	0	5964	1280	45	4	5561	4	FN1	2	216274775	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	5384914	216274775	26924598	16	3743											
SETD2	29072	broad.mit.edu;ucsc.edu	37	3	47079269	47079269	+	Splice_Site	SNP	T	T	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr3:47079269T>A	ENST00000409792.3	-	18	7281		c.e18-2			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.?(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGAGTCTGCCTAGAAAGAGAC	0.448			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Unknown(2)	kidney(2)											87	76	80					3																	47079269		2203	4300	6503	SO:0001630	splice_region_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7239-2A>T	3.37:g.47079269T>A			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	28.5	4.927127	0.92389	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47054273	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.922000	0.87538	2.281000	0.76405	0.533000	0.62120	.		0.448	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Intron	A	47079269	T	A	47079269	5	1	51	1	0	0	0	0	0	0	1	0	14137	1536	53	5	473	5	SETD2	3	47079269	Splice_Site	SNP	T	TCGA-A3-3358-01A-01D-1534-10		47079269	150943161	17	3744											
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	79420893	79420893	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr4:79420893A>C	ENST00000264895.6	+	61	9574	c.9134A>C	c.(9133-9135)gAa>gCa	p.E3045A		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3041	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.E3045A(1)|p.E3046A(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTGAGTTTGAAGAAGCTGCA	0.483																																																2	Substitution - Missense(2)	kidney(2)											119	115	116					4																	79420893		1889	4128	6017	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9134A>C	4.37:g.79420893A>C	ENSP00000264895:p.Glu3045Ala		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.62|13.62	2.291133|2.291133	0.40494|0.40494	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.35421|.	1.31|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71065|.	0.3296|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.995;1.0|.	T|.	0.69018|.	-0.5256|.	10|.	0.42905|.	T|.	0.14|.	.|.	16.3513|16.3513	0.83213|0.83213	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3044;3045|.	Q86XX4-2;E9PHH6|.	.;.|.	A|C	3045|1273	ENSP00000264895:E3045A|.	ENSP00000264895:E3045A|.	E|X	+|+	2|3	0|0	FRAS1|FRAS1	79639917|79639917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.267000|0.267000	0.26476|0.26476	9.202000|9.202000	0.95026|0.95026	2.252000|2.252000	0.74401|0.74401	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.483	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	79420893	A	C	79420893	3	2	51	1	0	0	0	0	1	0	0	0	6044	246	9	5	9451	5	FRAS1	4	79420893	Missense_Mutation	SNP	A	TCGA-A3-3358-01A-01D-1534-10		79420893	111733383	18	3745											
ANXA10	11199	broad.mit.edu;ucsc.edu	37	4	169085402	169085402	+	Silent	SNP	T	T	C			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr4:169085402T>C	ENST00000359299.3	+	5	549	c.363T>C	c.(361-363)aaT>aaC	p.N121N		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	121						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.N121N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CAAGAACAAATGGAGAAATTT	0.313																																																1	Substitution - coding silent(1)	kidney(1)											63	60	61					4																	169085402		2203	4300	6503	SO:0001819	synonymous_variant	11199			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.363T>C	4.37:g.169085402T>C			Q96IQ5|Q9UJV4	Silent	SNP	ENST00000359299.3	37	CCDS34096.1																																																																																				0.313	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		C	169085402	T	C	169085402	2	2	51	1	0	0	0	0	0	0	0	1	715	1461	51	3		3	ANXA10	4	169085402	Silent	SNP	T	TCGA-A3-3358-01A-01D-1534-10	89664509	169085402	22068874	19	3746											
CSNK1G3	1456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	122923847	122923847	+	Splice_Site	SNP	G	G	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr5:122923847G>T	ENST00000361991.2	+	6	789	c.759G>T	c.(757-759)aaG>aaT	p.K253N	CSNK1G3_ENST00000395411.1_Splice_Site_p.K253N|CSNK1G3_ENST00000512718.3_Splice_Site_p.K178N|CSNK1G3_ENST00000345990.4_Splice_Site_p.K253N|CSNK1G3_ENST00000521364.1_Splice_Site_p.K253N|CSNK1G3_ENST00000360683.2_Splice_Site_p.K253N|CSNK1G3_ENST00000395412.1_Splice_Site_p.K253N|CSNK1G3_ENST00000511130.2_Splice_Site_p.K140N|CSNK1G3_ENST00000510842.2_Splice_Site_p.K253N			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K253N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAGGCTTAAAGGTAATTGTTT	0.284																																					Pancreas(187;2868 2964 4353 6297)											1	Substitution - Missense(1)	kidney(1)											120	122	122					5																	122923847		2203	4300	6503	SO:0001630	splice_region_variant	1456			AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.759+1G>T	5.37:g.122923847G>T			A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798780	0.90538	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000511130;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91	5.05	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.38374	0.1038	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D	0.71674	0.99;0.998;0.997;0.997;0.998;0.997	D;D;D;D;D;D	0.74674	0.972;0.984;0.984;0.936;0.984;0.972	T	0.29701	-1.0003	10	0.87932	D	0	.	18.9125	0.92491	0.0:0.0:1.0:0.0	.	178;253;140;253;253;253	B4DSH2;A8K040;E7EVD0;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;.;KC1G3_HUMAN;.	N	253;253;253;140;178;253;253;253;253	ENSP00000378807:K253N;ENSP00000378806:K253N;ENSP00000334735:K253N;ENSP00000421385:K140N;ENSP00000421998:K178N;ENSP00000429412:K253N;ENSP00000423838:K253N;ENSP00000354942:K253N;ENSP00000353904:K253N	ENSP00000334735:K253N	K	+	3	2	CSNK1G3	122951746	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.626000	0.83164	2.723000	0.93209	0.650000	0.86243	AAG		0.284	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384	Missense_Mutation	T	122923847	G	T	122923847	5	4	51	1	0	0	0	0	0	0	1	0	3958	1014	35	4	781	4	CSNK1G3	5	122923847	Splice_Site	SNP	G	TCGA-A3-3358-01A-01D-1534-10		122923847	57991413	20	3747											
PCDHB5	26167	broad.mit.edu;hgsc.bcm.edu	37	5	140517263	140517263	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr5:140517263C>A	ENST00000231134.5	+	1	2464	c.2247C>A	c.(2245-2247)caC>caA	p.H749Q		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	749					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H749Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGCTACCACTACGAGGTGT	0.627																																																1	Substitution - Missense(1)	kidney(1)											106	126	119					5																	140517263		2203	4300	6503	SO:0001583	missense	26167			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2247C>A	5.37:g.140517263C>A	ENSP00000231134:p.His749Gln		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.747031	0.00005	.	.	ENSG00000113209	ENST00000231134	T	0.46819	0.86	4.38	-1.14	0.09741	.	.	.	.	.	T	0.06416	0.0165	N	0.00027	-2.645	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.38972	-0.9636	9	0.02654	T	1	.	2.3274	0.04226	0.3869:0.3182:0.1891:0.1058	.	749	Q9Y5E4	PCDB5_HUMAN	Q	749	ENSP00000231134:H749Q	ENSP00000231134:H749Q	H	+	3	2	PCDHB5	140497447	0.000000	0.05858	0.833000	0.33012	0.111000	0.19643	-1.049000	0.03514	-0.147000	0.11254	-0.293000	0.09583	CAC		0.627	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		A	140517263	C	A	140517263	3	1	51	1	0	0	0	0	1	0	0	0	11547	564	20	4	2249	4	PCDHB5	5	140517263	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	17593416	140517263	40397997	21	3748											
HLA-C	3107	hgsc.bcm.edu	37	6	31238126	31238126	+	Silent	SNP	G	G	A	rs2308618	byFrequency	TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr6:31238126G>A	ENST00000376228.5	-	4	770	c.756C>T	c.(754-756)acC>acT	p.T252T	HLA-C_ENST00000383329.3_Silent_p.T252T	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	252	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCACAAGCTCGGTGTCCTGGG	0.617																																																0								G		253,4153		17,219,1967	49	42	45		756	-2.7	0	6	dbSNP_126	45	740,7856		50,640,3608	no	coding-synonymous	HLA-C	NM_002117.5		67,859,5575	AA,AG,GG		8.6087,5.7422,7.6373		252/367	31238126	993,12009	2203	4298	6501	SO:0001819	synonymous_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.756C>T	6.37:g.31238126G>A			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1																																																																																				0.617	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		A	31238126	G	A	31238126	2	1	51	1	0	0	0	0	0	0	0	1	7199	1103	39	1		1	HLA-C	6	31238126	Silent	SNP	G	TCGA-A3-3358-01A-01D-1534-10		31238126	139876941	22	3749											
HTR1E	3354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	87725923	87725923	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr6:87725923C>T	ENST00000305344.5	+	2	1574	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	291					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R291C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GAAGGCAGCACGCATCCTGGG	0.517																																																1	Substitution - Missense(1)	kidney(1)											172	160	164					6																	87725923		2203	4300	6503	SO:0001583	missense	3354				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.871C>T	6.37:g.87725923C>T	ENSP00000307766:p.Arg291Cys		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413221	0.25465	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.40476	1.03;1.03	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000022	T	0.57286	0.2043	M	0.74546	2.27	0.47276	D	0.999375	D	0.89917	1.0	D	0.69479	0.964	T	0.65372	-0.6184	10	0.87932	D	0	.	17.0403	0.86487	0.0:1.0:0.0:0.0	.	291	P28566	5HT1E_HUMAN	C	291	ENSP00000307766:R291C;ENSP00000358597:R291C	ENSP00000307766:R291C	R	+	1	0	HTR1E	87782642	0.989000	0.36119	0.988000	0.46212	0.164000	0.22412	2.763000	0.47605	2.041000	0.60428	0.205000	0.17691	CGC		0.517	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		T	87725923	C	T	87725923	3	4	51	1	0	0	0	0	1	0	0	0	7441	536	19	1	873	1	HTR1E	6	87725923	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	56487797	87725923	83389144	23	3750											
EPM2A	7957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	145948647	145948647	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr6:145948647G>T	ENST00000367519.3	-	4	1426	c.901C>A	c.(901-903)Ccg>Acg	p.P301T		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	301	Tyrosine-protein phosphatase.		P -> L (in EPM2; loss of phosphatase activity; affects glycogen binding; disrupts the interaction with PPP1R3C). {ECO:0000269|PubMed:11175283}.		autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)	p.P301T(1)		kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		TAGACAGCCGGCCTCTTGGCC	0.567																																																1	Substitution - Missense(1)	kidney(1)											68	72	70					6																	145948647		2203	4300	6503	SO:0001583	missense	7957			AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3413	protein-coding gene	gene with protein product		607566	"epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.901C>A	6.37:g.145948647G>T	ENSP00000356489:p.Pro301Thr		B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	ENST00000367519.3	37	CCDS5206.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030958	0.54790	.	.	ENSG00000112425	ENST00000367519;ENST00000392304;ENST00000324857	T	0.65178	-0.14	6.04	4.27	0.50696	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	0.092556	0.85682	N	0.000000	T	0.72755	0.3500	M	0.88241	2.94	0.48571	D	0.999675	D;D;D	0.76494	0.999;0.999;0.983	D;D;D	0.72075	0.976;0.959;0.946	T	0.76767	-0.2838	10	0.72032	D	0.01	-24.6988	7.8044	0.29193	0.0643:0.1196:0.6919:0.1242	.	301;301;163	O95278;O95278-2;E1P599	EPM2A_HUMAN;.;.	T	301	ENSP00000356489:P301T	ENSP00000320279:P301T	P	-	1	0	EPM2A	145990340	1.000000	0.71417	0.699000	0.30290	0.449000	0.32228	4.160000	0.58164	0.888000	0.36160	0.563000	0.77884	CCG		0.567	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1			T	145948647	G	T	145948647	3	4	51	1	0	0	0	0	1	0	0	0	5185	1203	42	4	132	4	EPM2A	6	145948647	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	58222724	145948647	25166420	24	3751											
TYW1	55253	broad.mit.edu	37	7	66582492	66582492	+	Silent	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr7:66582492C>T	ENST00000359626.5	+	13	1749	c.1585C>T	c.(1585-1587)Ctg>Ttg	p.L529L		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	529					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.L529L(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GGTTACTCAGCTGTATGTCAG	0.398																																																1	Substitution - coding silent(1)	kidney(1)											77	76	76					7																	66582492		2203	4300	6503	SO:0001819	synonymous_variant	55253			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1585C>T	7.37:g.66582492C>T			Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																				0.398	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		T	66582492	C	T	66582492	2	4	51	1	0	0	0	0	0	0	0	1	16823	796	28	2		2	TYW1	7	66582492	Silent	SNP	C	TCGA-A3-3358-01A-01D-1534-10		66582492	92556171	25	3752											
MCM7	4176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99695276	99695276	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr7:99695276C>T	ENST00000303887.5	-	9	1723	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R	MCM7_ENST00000354230.3_Missense_Mutation_p.G184R|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	360	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.G184R(2)|p.G360R(2)|p.G360W(1)|p.G184W(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCACACCCCCGACTAGCAGG	0.507																																																6	Substitution - Missense(6)	ovary(2)|lung(2)|kidney(2)											255	260	258					7																	99695276		2203	4300	6503	SO:0001583	missense	4176				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1078G>A	7.37:g.99695276C>T	ENSP00000307288:p.Gly360Arg		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366666	0.95900	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.11604	2.76;2.76	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67461	-0.5665	10	0.87932	D	0	-17.3236	16.0986	0.81148	0.0:1.0:0.0:0.0	.	360	P33993	MCM7_HUMAN	R	360;297;253;184	ENSP00000307288:G360R;ENSP00000346171:G184R	ENSP00000307288:G360R	G	-	1	0	MCM7	99533212	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.565000	0.82337	2.664000	0.90586	0.655000	0.94253	GGG		0.507	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			T	99695276	C	T	99695276	3	4	51	1	0	0	0	0	1	0	0	0	9394	652	23	1	1109	1	MCM7	7	99695276	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	33112784	99695276	59443387	26	3753											
DENND2A	27147	broad.mit.edu	37	7	140301430	140301430	+	Silent	SNP	A	A	C			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr7:140301430A>C	ENST00000275884.6	-	2	1185	c.768T>G	c.(766-768)ggT>ggG	p.G256G	DENND2A_ENST00000537639.1_Silent_p.G256G|DENND2A_ENST00000492720.1_Silent_p.G256G|DENND2A_ENST00000496613.1_Silent_p.G256G			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	256					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G256G(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTGTGGGGGAACCCTCCGAGC	0.587																																																1	Substitution - coding silent(1)	kidney(1)											114	120	118					7																	140301430		1896	4112	6008	SO:0001819	synonymous_variant	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.768T>G	7.37:g.140301430A>C			C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																				0.587	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		C	140301430	A	C	140301430	2	2	51	1	0	0	0	0	0	0	0	1	4431	30	2	5		5	DENND2A	7	140301430	Silent	SNP	A	TCGA-A3-3358-01A-01D-1534-10	40606154	140301430	18837233	27	3754											
CHMP7	91782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	23116262	23116262	+	Silent	SNP	G	G	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr8:23116262G>A	ENST00000397677.1	+	8	1626	c.978G>A	c.(976-978)caG>caA	p.Q326Q	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Silent_p.Q326Q	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	326					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.Q326Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACGCCTACCAGGCTGGGGTAG	0.468																																																1	Substitution - coding silent(1)	kidney(1)											52	52	52					8																	23116262		2203	4300	6503	SO:0001819	synonymous_variant	91782			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.978G>A	8.37:g.23116262G>A			B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	CCDS6040.1																																																																																				0.468	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		A	23116262	G	A	23116262	2	1	51	1	0	0	0	0	0	0	0	1	3363	991	35	2		2	CHMP7	8	23116262	Silent	SNP	G	TCGA-A3-3358-01A-01D-1534-10		23116262	123247760	28	3755											
CCL27	10850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	34662409	34662409	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr9:34662409G>T	ENST00000259631.4	-	2	133	c.75C>A	c.(73-75)ttC>ttA	p.F25L	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	25					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.F25L(1)		kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GTGGCAGTAGGAATGCTAGGG	0.547																																																1	Substitution - Missense(1)	kidney(1)											63	55	57					9																	34662409		2203	4300	6503	SO:0001583	missense	10850			AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"Chemokine ligands", "Endogenous ligands"	10626	protein-coding gene	gene with protein product	"CC chemokine ILC", "IL-11 Ralpha-locus chemokine", "cutaneous T-cell attracting chemokine"	604833	"small inducible cytokine subfamily A (Cys-Cys), member 27"	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.75C>A	9.37:g.34662409G>T	ENSP00000259631:p.Phe25Leu			Missense_Mutation	SNP	ENST00000259631.4	37	CCDS6569.1	.	.	.	.	.	.	.	.	.	.	G	4.377	0.069544	0.08436	.	.	ENSG00000213927	ENST00000259631	T	0.24538	1.85	5.09	-0.189	0.13260	Chemokine interleukin-8-like domain (1);	1.068640	0.07437	N	0.896656	T	0.07188	0.0182	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34279	-0.9835	10	0.02654	T	1	1.0906	2.5145	0.04665	0.1365:0.4227:0.2752:0.1656	.	25	Q9Y4X3	CCL27_HUMAN	L	25	ENSP00000259631:F25L	ENSP00000259631:F25L	F	-	3	2	CCL27	34652409	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.210000	0.09345	0.006000	0.14734	-0.265000	0.10407	TTC		0.547	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	NM_006664		T	34662409	G	T	34662409	3	4	51	1	0	0	0	0	1	0	0	0	2901	1165	41	4	271	4	CCL27	9	34662409	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10		34662409	106551022	29	3756											
KIAA0913	23053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75545700	75545700	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr10:75545700T>G	ENST00000605216.1	+	1	281	c.64T>G	c.(64-66)Ttt>Gtt	p.F22V	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.F22V|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.F22V|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.F22V|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.F22V	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	22							zinc ion binding (GO:0008270)	p.F22V(2)									TTCGGACCGTTTTGAGGAGGA	0.652																																																2	Substitution - Missense(2)	kidney(2)											30	38	35					10																	75545700		1990	4127	6117	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.64T>G	10.37:g.75545700T>G	ENSP00000474748:p.Phe22Val		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.	.	.	.	.	.	.	.	.	.	T	33	5.259232	0.95368	.	.	ENSG00000214655	ENST00000398706	T	0.69561	-0.41	4.62	4.62	0.57501	.	.	.	.	.	T	0.66406	0.2786	M	0.82056	2.57	0.80722	D	1	P;P;P	0.36909	0.573;0.573;0.573	B;B;B	0.30401	0.115;0.115;0.115	T	0.73773	-0.3877	9	0.87932	D	0	.	14.1909	0.65637	0.0:0.0:0.0:1.0	.	22;22;22	A7E2V4;A7E2V4-5;A7E2V4-4	K0913_HUMAN;.;.	V	22	ENSP00000381693:F22V	ENSP00000381693:F22V	F	+	1	0	KIAA0913	75215706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.306000	0.78905	1.942000	0.56320	0.454000	0.30748	TTT		0.652	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		G	75545700	T	G	75545700	3	3	51	1	0	0	0	0	1	0	0	0	8202	1841	64	5	66	5	KIAA0913	10	75545700	Missense_Mutation	SNP	T	TCGA-A3-3358-01A-01D-1534-10		75545700	59989047	30	3757											
CPXM2	119587	broad.mit.edu	37	10	125651046	125651046	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr10:125651046C>T	ENST00000241305.3	-	1	284	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	44					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E44K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TAGTAGGGCTCCCGGCTCCAG	0.736																																																1	Substitution - Missense(1)	kidney(1)											8	11	10					10																	125651046		1954	3800	5754	SO:0001583	missense	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.130G>A	10.37:g.125651046C>T	ENSP00000241305:p.Glu44Lys		B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	c	9.706	1.155850	0.21454	.	.	ENSG00000121898	ENST00000241305;ENST00000418782	D	0.96334	-3.98	3.51	3.51	0.40186	.	2.162200	0.03114	N	0.162896	D	0.91556	0.7333	N	0.08118	0	0.37877	D	0.930247	B	0.18461	0.028	B	0.17098	0.017	T	0.77422	-0.2594	10	0.39692	T	0.17	-11.532	10.4272	0.44385	0.0:1.0:0.0:0.0	.	44	Q8N436	CPXM2_HUMAN	K	44	ENSP00000241305:E44K	ENSP00000241305:E44K	E	-	1	0	CPXM2	125641036	0.928000	0.31464	0.430000	0.26722	0.188000	0.23474	1.852000	0.39348	1.795000	0.52594	0.298000	0.19748	GAG		0.736	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		T	125651046	C	T	125651046	3	4	51	1	0	0	0	0	1	0	0	0	3840	864	30	2	2196	2	CPXM2	10	125651046	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	50105346	125651046	9883701	31	3758											
BCCIP	56647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	127520153	127520153	+	Silent	SNP	T	T	G			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr10:127520153T>G	ENST00000278100.6	+	5	588	c.576T>G	c.(574-576)gcT>gcG	p.A192A	BCCIP_ENST00000368759.5_Silent_p.A192A|BCCIP_ENST00000299130.3_Silent_p.A192A|BCCIP_ENST00000429863.2_Silent_p.A162A	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	192	Interaction with CDKN1A.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)	p.A192A(2)		breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CACAGATCGCTCTGCCCATGT	0.388																																																2	Substitution - coding silent(2)	kidney(2)											66	66	66					10																	127520153		2203	4300	6503	SO:0001819	synonymous_variant	56647			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"BRCA2 and CDKN1A-interacting protein"			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.576T>G	10.37:g.127520153T>G			B3KP45|Q8ND15|Q96GC4|Q9P288	Silent	SNP	ENST00000278100.6	37	CCDS7651.1																																																																																				0.388	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			G	127520153	T	G	127520153	2	3	51	1	0	0	0	0	0	0	0	1	1356	1538	54	5		5	BCCIP	10	127520153	Silent	SNP	T	TCGA-A3-3358-01A-01D-1534-10	1869107	127520153	8014594	32	3759											
MICAL2	9645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	12278355	12278355	+	Silent	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr11:12278355C>T	ENST00000256194.4	+	24	3267	c.2979C>T	c.(2977-2979)ccC>ccT	p.P993P	MICAL2_ENST00000537344.1_Silent_p.P803P|MICAL2_ENST00000342902.5_Silent_p.P972P|MICAL2_ENST00000527546.1_Silent_p.P803P|MICAL2_ENST00000379612.3_Silent_p.P767P	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	993					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.P993P(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGTCATTTCCCCTTAACCTGG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											115	95	102					11																	12278355		2201	4294	6495	SO:0001819	synonymous_variant	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2979C>T	11.37:g.12278355C>T			B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	CCDS7809.1																																																																																				0.522	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		T	12278355	C	T	12278355	2	4	51	1	0	0	0	0	0	0	0	1	9572	610	22	2		2	MICAL2	11	12278355	Silent	SNP	C	TCGA-A3-3358-01A-01D-1534-10		12278355	122728161	33	3760											
MRPL48	51642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73555925	73555925	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr11:73555925A>G	ENST00000310614.7	+	5	931	c.275A>G	c.(274-276)aAt>aGt	p.N92S	MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000535529.1_Missense_Mutation_p.N74S|MRPL48_ENST00000314282.7_5'UTR	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	92						mitochondrial ribosome (GO:0005761)		p.N92S(2)		kidney(1)	1						GGGGTTTTAAATATTCATCTG	0.403																																																2	Substitution - Missense(2)	kidney(2)											89	83	85					11																	73555925		1833	4080	5913	SO:0001583	missense	51642			AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"Mitochondrial ribosomal proteins / large subunits"	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.275A>G	11.37:g.73555925A>G	ENSP00000308717:p.Asn92Ser		B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Missense_Mutation	SNP	ENST00000310614.7	37	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.382551	0.82792	.	.	ENSG00000175581	ENST00000310614;ENST00000535529	T	0.52983	0.64	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	M	0.67700	2.07	0.58432	D	0.999999	D;D	0.71674	0.998;0.994	D;D	0.69479	0.964;0.917	T	0.66364	-0.5942	10	0.49607	T	0.09	-34.1012	13.6031	0.62031	1.0:0.0:0.0:0.0	.	74;92	B4DN34;Q96GC5	.;RM48_HUMAN	S	92;74	ENSP00000308717:N92S	ENSP00000308717:N92S	N	+	2	0	MRPL48	73233573	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	5.724000	0.68500	2.101000	0.63845	0.482000	0.46254	AAT		0.403	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		G	73555925	A	G	73555925	3	3	51	1	0	0	0	0	1	0	0	0	9814	101	4	3	293	3	MRPL48	11	73555925	Missense_Mutation	SNP	A	TCGA-A3-3358-01A-01D-1534-10	61277570	73555925	61450591	34	3761											
CSDA	8531	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10865871	10865871	+	Missense_Mutation	SNP	G	G	A	rs371143914		TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr12:10865871G>A	ENST00000228251.4	-	5	712	c.512C>T	c.(511-513)gCt>gTt	p.A171V	YBX3_ENST00000279550.7_Missense_Mutation_p.A171V	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	171					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A171V(1)									CCGATCTGCAGCGTAACGACT	0.502																																																1	Substitution - Missense(1)	kidney(1)						G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	92	100	97		512,512	5.5	1	12		97	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CSDA	NM_001145426.1,NM_003651.4	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	171/304,171/373	10865871	1,13005	2203	4300	6503	SO:0001583	missense	8531			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.512C>T	12.37:g.10865871G>A	ENSP00000228251:p.Ala171Val		B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	G	36	5.756857	0.96898	0.0	1.16E-4	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.35048	1.37;1.33	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	T	0.66366	0.2782	M	0.86573	2.825	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.973;0.998	T	0.72418	-0.4300	10	0.87932	D	0	.	16.8488	0.85988	0.0:0.0:1.0:0.0	.	171;171	P16989-2;P16989	.;DBPA_HUMAN	V	171	ENSP00000279550:A171V;ENSP00000228251:A171V	ENSP00000228251:A171V	A	-	2	0	CSDA	10757138	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	8.331000	0.90022	2.569000	0.86673	0.491000	0.48974	GCT		0.502	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		A	10865871	G	A	10865871	3	1	51	1	0	0	0	0	1	0	0	0	3929	971	34	2	626	2	CSDA	12	10865871	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10		10865871	122986024	35	3762											
FAM71C	196472	broad.mit.edu;ucsc.edu	37	12	100042248	100042248	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr12:100042248G>C	ENST00000324341.1	+	1	718	c.296G>C	c.(295-297)aGg>aCg	p.R99T	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	99								p.R99T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GACAATGCCAGGTGTGGTCCT	0.537																																																1	Substitution - Missense(1)	kidney(1)											82	80	81					12																	100042248		2203	4300	6503	SO:0001583	missense	196472				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.296G>C	12.37:g.100042248G>C	ENSP00000315247:p.Arg99Thr		B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.686528	0.00738	.	.	ENSG00000180219	ENST00000324341	T	0.10099	2.91	3.88	1.02	0.19986	.	2.146400	0.02543	N	0.094859	T	0.09512	0.0234	L	0.36672	1.1	0.09310	N	1	B	0.18166	0.026	B	0.16289	0.015	T	0.30765	-0.9967	9	.	.	.	0.0	3.9814	0.09497	0.2398:0.2371:0.5231:0.0	.	99	Q8NEG0	FA71C_HUMAN	T	99	ENSP00000315247:R99T	.	R	+	2	0	FAM71C	98566379	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.403000	0.20982	0.211000	0.20683	0.555000	0.69702	AGG		0.537	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		C	100042248	G	C	100042248	3	2	51	1	0	0	0	0	1	0	0	0	5611	1000	35	4	298	4	FAM71C	12	100042248	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	89176377	100042248	33809647	36	3763											
NUAK1	9891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	106466600	106466600	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr12:106466600T>C	ENST00000261402.2	-	5	1980	c.601A>G	c.(601-603)Aac>Gac	p.N201D		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.N201D(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGTACAGGTTGGAAAGCCCA	0.468																																																2	Substitution - Missense(2)	kidney(2)											126	117	120					12																	106466600		2203	4300	6503	SO:0001583	missense	9891			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.601A>G	12.37:g.106466600T>C	ENSP00000261402:p.Asn201Asp		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	T	30	5.049850	0.93740	.	.	ENSG00000074590	ENST00000261402;ENST00000548902	T;T	0.24538	1.85;1.85	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.38054	0.1026	N	0.17901	0.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.34354	-0.9832	10	0.87932	D	0	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	201	O60285	NUAK1_HUMAN	D	201;70	ENSP00000261402:N201D;ENSP00000448288:N70D	ENSP00000261402:N201D	N	-	1	0	NUAK1	104990730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.994000	0.88315	2.254000	0.74563	0.459000	0.35465	AAC		0.468	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		C	106466600	T	C	106466600	3	2	51	1	0	0	0	0	1	0	0	0	10714	1812	63	3	1396	3	NUAK1	12	106466600	Missense_Mutation	SNP	T	TCGA-A3-3358-01A-01D-1534-10	6424352	106466600	27385295	37	3764											
LMO7	4008	hgsc.bcm.edu;ucsc.edu	37	13	76427480	76427480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr13:76427480delC	ENST00000321797.8	+	26	4639	c.3918delC	c.(3916-3918)agcfs	p.S1306fs	LMO7_ENST00000377534.3_Frame_Shift_Del_p.S1591fs|LMO7_ENST00000341547.4_Frame_Shift_Del_p.S1257fs|LMO7_ENST00000465261.2_Frame_Shift_Del_p.S1306fs|LMO7_ENST00000357063.3_Frame_Shift_Del_p.S1591fs|LMO7_ENST00000526202.1_Frame_Shift_Del_p.S1183fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	1591					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCCCGAGAAGCCATTCCCCTT	0.557																																																0													49	42	45					13																	76427480		2203	4300	6503	SO:0001589	frameshift_variant	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3918delC	13.37:g.76427480delC	ENSP00000317802:p.Ser1306fs		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Del	DEL	ENST00000321797.8	37																																																																																					0.557	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		-	76427480	C	-	76427480	7	5	51	1	0	1	0	1	0	0	0	0	8857	738	26	0	4887	0	LMO7	13	76427480	Frame_Shift_Del	DEL	C	TCGA-A3-3358-01A-01D-1534-10		76427480	38742398	38	3765											
G2E3	55632	broad.mit.edu;hgsc.bcm.edu	37	14	31074726	31074726	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr14:31074726T>G	ENST00000206595.6	+	11	1180	c.1026T>G	c.(1024-1026)ttT>ttG	p.F342L	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Missense_Mutation_p.F372L|G2E3_ENST00000438909.2_Missense_Mutation_p.F296L	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	342					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F342L(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCAGCAAATTTAGAAGAAATG	0.274																																																1	Substitution - Missense(1)	kidney(1)											16	17	17					14																	31074726		2119	4261	6380	SO:0001583	missense	55632			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1026T>G	14.37:g.31074726T>G	ENSP00000206595:p.Phe342Leu		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	CCDS9638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.728|6.728	0.503024|0.503024	0.12822|0.12822	.|.	.|.	ENSG00000092140|ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504|ENST00000552515	T;T;T|.	0.78595|.	-1.19;1.13;-0.61|.	5.66|5.66	3.18|3.18	0.36537|0.36537	HECT (1);|.	1.083220|.	0.06963|.	N|.	0.816671|.	T|.	0.15176|.	0.0366|.	N|N	0.08118|0.08118	0|0	0.29445|0.29445	N|N	0.858905|0.858905	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.15037|.	-1.0451|.	10|.	0.07482|.	T|.	0.82|.	-9.5042|-9.5042	2.0782|2.0782	0.03629|0.03629	0.1435:0.0882:0.2699:0.4984|0.1435:0.0882:0.2699:0.4984	.|.	342|.	Q7L622|.	G2E3_HUMAN|.	L|E	342;296;372|108	ENSP00000206595:F342L;ENSP00000391068:F296L;ENSP00000451653:F372L|.	ENSP00000206595:F342L|.	F|X	+|+	3|1	2|0	G2E3|G2E3	30144477|30144477	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.664000|0.664000	0.39144|0.39144	1.588000|1.588000	0.36633|0.36633	1.093000|1.093000	0.41377|0.41377	0.528000|0.528000	0.53228|0.53228	TTT|TAG		0.274	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		G	31074726	T	G	31074726	3	3	51	1	0	0	0	0	1	0	0	0	6142	1751	61	5	1064	5	G2E3	14	31074726	Missense_Mutation	SNP	T	TCGA-A3-3358-01A-01D-1534-10		31074726	76274814	39	3766											
YLPM1	56252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75248651	75248651	+	Silent	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr14:75248651C>T	ENST00000552421.1	+	4	2029	c.1905C>T	c.(1903-1905)ccC>ccT	p.P635P	YLPM1_ENST00000325680.7_Silent_p.P635P|YLPM1_ENST00000238571.3_Silent_p.P440P			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P635P(1)|p.P440P(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAATACCTCCCCCTGGAGTTC	0.557																																																2	Substitution - coding silent(2)	kidney(2)											87	91	89					14																	75248651		2011	4169	6180	SO:0001819	synonymous_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1905C>T	14.37:g.75248651C>T			P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37																																																																																					0.557	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		T	75248651	C	T	75248651	2	4	51	1	0	0	0	0	0	0	0	1	17491	610	22	2		2	YLPM1	14	75248651	Silent	SNP	C	TCGA-A3-3358-01A-01D-1534-10	44173925	75248651	32100889	40	3767											
GLDN	342035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51692438	51692438	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr15:51692438T>A	ENST00000335449.6	+	7	923	c.867T>A	c.(865-867)gaT>gaA	p.D289E	GLDN_ENST00000396399.2_Missense_Mutation_p.D165E	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	289					clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D289E(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GAAAAGCTGATGAGAAAGCCA	0.418																																																1	Substitution - Missense(1)	kidney(1)											120	114	116					15																	51692438		2196	4293	6489	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.867T>A	15.37:g.51692438T>A	ENSP00000335196:p.Asp289Glu		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241592	0.22711	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.91295	-2.82;-2.66	5.79	-2.69	0.06022	.	0.000000	0.44902	D	0.000418	T	0.74688	0.3749	N	0.22421	0.69	0.29237	N	0.872865	B	0.26258	0.145	B	0.20955	0.032	T	0.65804	-0.6079	10	0.06099	T	0.92	.	5.3252	0.15903	0.3284:0.364:0.0:0.3076	.	289	Q6ZMI3	GLDN_HUMAN	E	289;165;165	ENSP00000335196:D289E;ENSP00000379681:D165E	ENSP00000335196:D289E	D	+	3	2	GLDN	49479730	0.679000	0.27596	0.986000	0.45419	0.778000	0.44026	-0.349000	0.07731	-0.398000	0.07679	-0.336000	0.08194	GAT		0.418	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		A	51692438	T	A	51692438	3	1	51	1	0	0	0	0	1	0	0	0	6436	1461	51	5	893	5	GLDN	15	51692438	Missense_Mutation	SNP	T	TCGA-A3-3358-01A-01D-1534-10		51692438	50838954	41	3768											
CPEB1	64506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	83221251	83221251	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr15:83221251G>C	ENST00000562019.1	-	8	1510	c.1194C>G	c.(1192-1194)agC>agG	p.S398R	CPEB1_ENST00000564522.1_Missense_Mutation_p.S318R|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.A128G|CPEB1_ENST00000568128.1_Missense_Mutation_p.S393R|CPEB1_ENST00000450751.2_Missense_Mutation_p.S318R|CPEB1_ENST00000563800.1_Missense_Mutation_p.S420R|CPEB1_ENST00000423133.2_Missense_Mutation_p.S318R|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.S318R|CPEB1_ENST00000261723.6_Missense_Mutation_p.S396R|CPEB1_ENST00000398591.2_Missense_Mutation_p.S323R|CPEB1_ENST00000398592.2_Missense_Mutation_p.S167R			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	398	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.S323R(1)|p.S393R(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCATCCTTCGGCTGGACATCT	0.498																																																2	Substitution - Missense(2)	kidney(2)											71	71	71					15																	83221251		2108	4241	6349	SO:0001583	missense	64506			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1194C>G	15.37:g.83221251G>C	ENSP00000457836:p.Ser398Arg		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.133652	0.77662	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T;T	0.23754	3.35;1.89;1.89;1.89;1.89	5.84	3.95	0.45737	RNA recognition motif domain (1);	0.000000	0.85682	U	0.000000	T	0.51483	0.1677	M	0.86178	2.8	0.58432	D	0.999998	D;D;P;D	0.89917	1.0;1.0;0.875;1.0	D;D;P;D	0.87578	0.997;0.998;0.8;0.998	T	0.54675	-0.8258	10	0.66056	D	0.02	-11.8158	10.3161	0.43738	0.1868:0.0:0.8132:0.0	.	396;393;398;393	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	R	393;393;318;323;396;167	ENSP00000414187:S393R;ENSP00000397526:S318R;ENSP00000381591:S323R;ENSP00000261723:S396R;ENSP00000381592:S167R	ENSP00000261723:S396R	S	-	3	2	CPEB1	81018306	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.334000	0.43920	2.769000	0.95229	0.563000	0.77884	AGC		0.498	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		C	83221251	G	C	83221251	3	2	51	1	0	0	0	0	1	0	0	0	3802	1194	42	4	526	4	CPEB1	15	83221251	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	31528813	83221251	19310141	42	3769											
FAM57B	83723	broad.mit.edu	37	16	30036624	30036624	+	Silent	SNP	G	G	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr16:30036624G>A	ENST00000380495.4	-	5	1436	c.705C>T	c.(703-705)aaC>aaT	p.N235N	FAM57B_ENST00000564806.1_3'UTR|FAM57B_ENST00000279389.4_Silent_p.N185N	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	235	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)	p.N235N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CAGCGCCCAGGTTGACGTGGG	0.726																																																1	Substitution - coding silent(1)	kidney(1)											30	29	29					16																	30036624		2153	4247	6400	SO:0001819	synonymous_variant	83723			AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.705C>T	16.37:g.30036624G>A			Q9H0J1	Silent	SNP	ENST00000380495.4	37	CCDS10667.2	.	.	.	.	.	.	.	.	.	.	G	9.151	1.016273	0.19355	.	.	ENSG00000149926	ENST00000279389	.	.	.	4.78	3.83	0.44106	.	.	.	.	.	T	0.62684	0.2448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60301	-0.7290	4	.	.	.	-4.7299	11.8776	0.52556	0.0877:0.0:0.9123:0.0	.	.	.	.	I	202	.	.	T	-	2	0	FAM57B	29944125	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.340000	0.65958	0.996000	0.38943	0.561000	0.74099	ACC		0.726	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		A	30036624	G	A	30036624	2	1	51	1	0	0	0	0	0	0	0	1	5591	1252	44	2		2	FAM57B	16	30036624	Silent	SNP	G	TCGA-A3-3358-01A-01D-1534-10		30036624	60318129	43	3770											
SLC12A4	6560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67983803	67983804	+	Missense_Mutation	DNP	CC	CC	GA	rs184951084|rs574622885		TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr16:67983803_67983804CC>GA	ENST00000316341.3	-	13	1787_1788	c.1647_1648GG>TC	c.(1645-1650)aaGGtg>aaTCtg	p.549_550KV>NL	SLC12A4_ENST00000422611.2_Missense_Mutation_p.551_552KV>NL|SLC12A4_ENST00000338335.3_Missense_Mutation_p.549_550KV>NL|SLC12A4_ENST00000576616.1_Missense_Mutation_p.549_550KV>NL|SLC12A4_ENST00000537830.2_Missense_Mutation_p.543_544KV>NL|SLC12A4_ENST00000541864.2_Missense_Mutation_p.518_519KV>NL|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000572037.1_Missense_Mutation_p.501_502KV>NL	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	549					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.K549N(1)|p.V550L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCACCATTCACCTTCCCGTGGC	0.629																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1647_1648delinsGA	16.37:g.67983803_67983804delinsGA	ENSP00000318557:p.K549_V550delinsNL		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1																																																																																				0.629	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		GA	67983804	CC	GA	67983803	3	3	51	1	0	0	0	0	1	0	0	0	14391	507	18	4	1657	4	SLC12A4	16	67983803	Missense_Mutation	DNP	CC	TCGA-A3-3358-01A-01D-1534-10	37947179	67983803	22370950	44	3771											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11583161	11583161	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr17:11583161G>T	ENST00000262442.4	+	18	3509	c.3441G>T	c.(3439-3441)gaG>gaT	p.E1147D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1147D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1147	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E1147D(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTTGGTTGAGATCATGGGAC	0.423																																																1	Substitution - Missense(1)	kidney(1)											155	150	152					17																	11583161		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3441G>T	17.37:g.11583161G>T	ENSP00000262442:p.Glu1147Asp		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	6.598	0.478621	0.12521	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.23348	1.91;1.91	5.55	-1.74	0.08056	.	0.318723	0.31199	N	0.008078	T	0.14442	0.0349	L	0.48218	1.51	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.13202	-1.0518	10	0.15066	T	0.55	.	3.2653	0.06863	0.3115:0.1027:0.4809:0.105	.	1147	Q9NYC9	DYH9_HUMAN	D	1147	ENSP00000262442:E1147D;ENSP00000414874:E1147D	ENSP00000262442:E1147D	E	+	3	2	DNAH9	11523886	1.000000	0.71417	0.976000	0.42696	0.235000	0.25334	1.235000	0.32671	0.033000	0.15463	0.555000	0.69702	GAG		0.423	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11583161	G	T	11583161	3	4	51	1	0	0	0	0	1	0	0	0	4610	933	33	4	3511	4	DNAH9	17	11583161	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10		11583161	69612049	45	3772											
LLGL1	3996	broad.mit.edu;ucsc.edu	37	17	18141525	18141526	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr17:18141525_18141526insA	ENST00000316843.4	+	15	2145_2146	c.2049_2050insA	c.(2050-2052)aagfs	p.K684fs		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	684					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ATGCCAGCAGCAAGGTGAGCTG	0.624																																																0																																										SO:0001589	frameshift_variant	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2051dupA	17.37:g.18141527_18141527dupA	ENSP00000321537:p.Lys684fs		A7MBM7|O00188|Q58F11|Q86UK6	Frame_Shift_Ins	INS	ENST00000316843.4	37	CCDS32586.1																																																																																				0.624	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			A	18141526	-	A	18141525	7	5	51	1	0	1	1	0	0	0	0	0	8835	709	25	0	2107	0	LLGL1	17	18141525	Frame_Shift_Ins	INS	-	TCGA-A3-3358-01A-01D-1534-10	6558364	18141525	63053685	46	3773											
SSH2	85464	hgsc.bcm.edu;ucsc.edu	37	17	27958639	27958642	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	CTGA	CTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr17:27958639_27958642delCTGA	ENST00000269033.3	-	15	3640_3643	c.3489_3492delTCAG	c.(3487-3492)agtcagfs	p.SQ1163fs	SSH2_ENST00000540801.1_Frame_Shift_Del_p.SQ1190fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1163					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGGGCTCTCCTGACTTTCTTCCC	0.52																																																0																																										SO:0001589	frameshift_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3489_3492delTCAG	17.37:g.27958639_27958642delCTGA	ENSP00000269033:p.Ser1163fs		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Del	DEL	ENST00000269033.3	37	CCDS11253.1																																																																																				0.52	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		-	27958642	CTGA	-	27958639	7	5	51	1	0	1	0	1	0	0	0	0	15190	680	24	0	783	0	SSH2	17	27958639	Frame_Shift_Del	DEL	CTGA	TCGA-A3-3358-01A-01D-1534-10	9817114	27958639	53236571	47	3774											
UNC45B	146862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33495265	33495265	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr17:33495265T>G	ENST00000268876.5	+	10	1434	c.1337T>G	c.(1336-1338)aTc>aGc	p.I446S	UNC45B_ENST00000394570.2_Missense_Mutation_p.I446S|UNC45B_ENST00000433649.1_Missense_Mutation_p.I446S|UNC45B_ENST00000378449.1_Missense_Mutation_p.I446S|UNC45B_ENST00000591048.1_Missense_Mutation_p.I446S|RP11-799D4.3_ENST00000585646.1_RNA	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	446					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.I446S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GAGGCCCTCATCCATGCCTCC	0.557																																																1	Substitution - Missense(1)	kidney(1)											109	82	91					17																	33495265		2203	4300	6503	SO:0001583	missense	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1337T>G	17.37:g.33495265T>G	ENSP00000268876:p.Ile446Ser		Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.570043	0.86542	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.73962	2.25	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.997	T	0.68876	-0.5293	10	0.87932	D	0	-28.5699	14.3661	0.66807	0.0:0.0:0.0:1.0	.	446;446;446	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	S	446	ENSP00000378071:I446S;ENSP00000268876:I446S;ENSP00000412840:I446S;ENSP00000367710:I446S	ENSP00000268876:I446S	I	+	2	0	UNC45B	30519378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.233000	0.73108	0.533000	0.62120	ATC		0.557	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		G	33495265	T	G	33495265	3	3	51	1	0	0	0	0	1	0	0	0	16994	1435	50	5	1371	5	UNC45B	17	33495265	Missense_Mutation	SNP	T	TCGA-A3-3358-01A-01D-1534-10	5536626	33495265	47699945	48	3775											
PCGF2	7703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36892363	36892363	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr17:36892363A>T	ENST00000580830.1	-	11	1338	c.637T>A	c.(637-639)Tac>Aac	p.Y213N	PCGF2_ENST00000578109.1_Missense_Mutation_p.L160Q|PCGF2_ENST00000360797.2_Missense_Mutation_p.Y213N|PCGF2_ENST00000579882.1_Missense_Mutation_p.L214Q|PCGF2_ENST00000585100.1_Missense_Mutation_p.L214Q|PCGF2_ENST00000581345.1_Missense_Mutation_p.Y213N			P35227	PCGF2_HUMAN	polycomb group ring finger 2	213					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y213N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GGGTAGATGTAGGCGATGTCC	0.642																																																1	Substitution - Missense(1)	kidney(1)											107	66	80					17																	36892363		2202	4298	6500	SO:0001583	missense	7703			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.637T>A	17.37:g.36892363A>T	ENSP00000461961:p.Tyr213Asn		A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936644	0.52972	.	.	ENSG00000056661	ENST00000360797	T	0.38560	1.13	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76806	-0.2823	10	0.66056	D	0.02	-18.3931	12.5912	0.56443	1.0:0.0:0.0:0.0	.	213	P35227	PCGF2_HUMAN	N	213	ENSP00000354033:Y213N	ENSP00000354033:Y213N	Y	-	1	0	PCGF2	34145889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.978000	0.93450	2.082000	0.62665	0.379000	0.24179	TAC		0.642	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		T	36892363	A	T	36892363	3	4	51	1	0	0	0	0	1	0	0	0	11577	420	15	5	405	5	PCGF2	17	36892363	Missense_Mutation	SNP	A	TCGA-A3-3358-01A-01D-1534-10	3397098	36892363	44302847	49	3776											
CCDC45	90799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62512882	62512882	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr17:62512882C>A	ENST00000556440.2	+	5	919	c.409C>A	c.(409-411)Cgt>Agt	p.R137S	CEP95_ENST00000553412.1_Intron	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	137						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.R137S(2)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TCGAGGAGAACGTTTGGAAGA	0.343																																																2	Substitution - Missense(2)	kidney(2)											126	117	120					17																	62512882		1820	4072	5892	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.409C>A	17.37:g.62512882C>A	ENSP00000450461:p.Arg137Ser		B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.219178	0.01542	.	.	ENSG00000258890	ENST00000556440	T	0.29142	1.58	5.1	3.06	0.35304	.	1.293660	0.04839	N	0.440181	T	0.21227	0.0511	N	0.22421	0.69	0.09310	N	0.999998	B	0.12013	0.005	B	0.17722	0.019	T	0.24297	-1.0164	10	0.08599	T	0.76	0.1432	8.7177	0.34421	0.1707:0.6648:0.1645:0.0	.	137	Q96GE4	CEP95_HUMAN	S	137	ENSP00000450461:R137S	ENSP00000437744:R137S	R	+	1	0	CEP95	59943344	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	0.611000	0.24268	0.819000	0.34492	-0.188000	0.12872	CGT		0.343	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		A	62512882	C	A	62512882	3	1	51	1	0	0	0	0	1	0	0	0	2818	536	19	4	427	4	CCDC45	17	62512882	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	25620519	62512882	18682328	50	3777											
EXOC7	23265	broad.mit.edu	37	17	74093949	74093949	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr17:74093949G>A	ENST00000335146.7	-	5	621	c.568C>T	c.(568-570)Cac>Tac	p.H190Y	EXOC7_ENST00000607838.1_Missense_Mutation_p.H190Y|EXOC7_ENST00000411744.2_Missense_Mutation_p.H190Y|EXOC7_ENST00000405575.4_Missense_Mutation_p.H190Y|EXOC7_ENST00000467929.2_Missense_Mutation_p.H149Y|EXOC7_ENST00000332065.5_Missense_Mutation_p.H190Y|EXOC7_ENST00000589210.1_Missense_Mutation_p.H190Y			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	190					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)		p.H190Y(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TCGGGCAGGTGCTCCAGGGTC	0.597																																																1	Substitution - Missense(1)	kidney(1)											103	86	92					17																	74093949		2203	4300	6503	SO:0001583	missense	23265			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.568C>T	17.37:g.74093949G>A	ENSP00000334100:p.His190Tyr		B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849538	0.91277	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116	.	.	.	4.99	4.99	0.66335	Cullin repeat-like-containing domain (1);	0.155915	0.56097	D	0.000022	T	0.60090	0.2242	L	0.46157	1.445	0.80722	D	1	P;P;P;P;P;P;P;P	0.52170	0.94;0.928;0.682;0.816;0.922;0.93;0.951;0.928	P;P;B;B;B;P;B;P	0.48770	0.568;0.589;0.187;0.444;0.413;0.486;0.409;0.465	T	0.63554	-0.6611	9	0.56958	D	0.05	-24.3945	16.636	0.85060	0.0:0.0:1.0:0.0	.	190;190;149;149;190;190;190;190	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5-4;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;.;EXOC7_HUMAN;.;.	Y	190;110;190;190;190;149;190;190;75	.	ENSP00000333806:H190Y	H	-	1	0	EXOC7	71605544	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.167000	0.94773	2.598000	0.87819	0.563000	0.77884	CAC		0.597	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		A	74093949	G	A	74093949	3	1	51	1	0	0	0	0	1	0	0	0	5312	1319	46	2	1703	2	EXOC7	17	74093949	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	11581067	74093949	7101261	51	3778											
SETBP1	26040	broad.mit.edu;hgsc.bcm.edu	37	18	42530495	42530495	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr18:42530495C>T	ENST00000282030.5	+	4	1486	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	397						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S343L(1)|p.S397L(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAAAATGACTCAAGTCATGTC	0.473									Schinzel-Giedion syndrome																																							2	Substitution - Missense(2)	kidney(2)											43	43	43					18																	42530495		2203	4300	6503	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1190C>T	18.37:g.42530495C>T	ENSP00000282030:p.Ser397Leu		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794662	0.31777	.	.	ENSG00000152217	ENST00000282030	T	0.34275	1.37	5.78	4.69	0.59074	.	0.470158	0.21561	N	0.072566	T	0.23572	0.0570	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.07177	-1.0786	10	0.18710	T	0.47	.	13.5007	0.61454	0.0:0.8948:0.0:0.1052	.	397	Q9Y6X0	SETBP_HUMAN	L	397	ENSP00000282030:S397L	ENSP00000282030:S397L	S	+	2	0	SETBP1	40784493	0.006000	0.16342	0.755000	0.31263	0.756000	0.42949	1.848000	0.39309	2.894000	0.99253	0.655000	0.94253	TCA		0.473	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		T	42530495	C	T	42530495	3	4	51	1	0	0	0	0	1	0	0	0	14135	838	29	2	1393	2	SETBP1	18	42530495	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10		42530495	35546753	52	3779											
GPX4	22904	broad.mit.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1106418	1106419	+	IGR	DNP	GC	GC	CT			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr19:1106418_1106419GC>CT	ENST00000361757.3	-	0	4922				GPX4_ENST00000589115.1_Missense_Mutation_p.A166L|GPX4_ENST00000354171.8_Missense_Mutation_p.G174A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)			p.G174G(1)|p.G174A(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAAGAACGGCTGCGTGGTGA	0.649																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001628	intergenic_variant	2879			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.4099_4099delinsCT	19.37:g.1106418_1106419delinsCT			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation|Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																				0.649	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		CT	1106419	GC	CT	1106418	1	2	51	0	1	0	0	0	0	0	0	0	6744	1203	42	4		4	GPX4	19	1106418	IGR	DNP	GC	TCGA-A3-3358-01A-01D-1534-10		1106418	58022565	53	3780											
UHRF1	29128	broad.mit.edu;hgsc.bcm.edu	37	19	4950899	4950899	+	RNA	SNP	A	A	G			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr19:4950899A>G	ENST00000592666.1	+	0	2285							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K583R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGAAGGGGAAGTCCGGGTTT	0.647																																																1	Substitution - Missense(1)	kidney(1)											72	78	76					19																	4950899		2018	4172	6190			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4950899A>G			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Missense_Mutation	SNP	ENST00000592666.1	37		.	.	.	.	.	.	.	.	.	.	A	11.59	1.684572	0.29872	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.92	4.92	0.64577	SRA-YDG (4);	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	M	0.78049	2.395	0.42803	D	0.993932	D;D	0.60160	0.987;0.963	D;P	0.73380	0.98;0.857	T	0.82868	-0.0244	8	0.49607	T	0.09	7.0E-4	13.729	0.62776	1.0:0.0:0.0:0.0	.	583;570	Q2HIX7;Q96T88	.;UHRF1_HUMAN	R	570;185;570;570;583	.	ENSP00000262952:K570R	K	+	2	0	UHRF1	4901899	1.000000	0.71417	0.667000	0.29798	0.185000	0.23345	9.243000	0.95416	1.849000	0.53698	0.454000	0.30748	AAG		0.647	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		G	4950899	A	G	4950899	1	3	51	0	1	0	0	0	0	0	0	0	16972	72	3	3		3	UHRF1	19	4950899	RNA	SNP	A	TCGA-A3-3358-01A-01D-1534-10	3844481	4950899	54178084	54	3781											
UNC13A	23025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17756598	17756598	+	Silent	SNP	G	G	A	rs373430076		TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr19:17756598G>A	ENST00000519716.2	-	19	2240	c.2241C>T	c.(2239-2241)gaC>gaT	p.D747D	UNC13A_ENST00000252773.7_Silent_p.D747D|UNC13A_ENST00000551649.1_Silent_p.D747D|UNC13A_ENST00000552293.1_Silent_p.D747D|UNC13A_ENST00000428389.2_Silent_p.D835D|UNC13A_ENST00000550896.1_Silent_p.D745D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	747	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.D747D(1)|p.D835D(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ATTTGATGTCGTCATCCTCGT	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22421	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)						G		0,4254		0,0,2127	72	73	72		2241	-1.1	1	19		72	1,8507		0,1,4253	no	coding-synonymous	UNC13A	NM_001080421.2		0,1,6380	AA,AG,GG		0.0118,0.0,0.0078		747/1704	17756598	1,12761	2127	4254	6381	SO:0001819	synonymous_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2241C>T	19.37:g.17756598G>A			E5RHY9	Silent	SNP	ENST00000519716.2	37	CCDS46013.2																																																																																				0.592	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		A	17756598	G	A	17756598	2	1	51	1	0	0	0	0	0	0	0	1	16989	1136	40	1		1	UNC13A	19	17756598	Silent	SNP	G	TCGA-A3-3358-01A-01D-1534-10	12805699	17756598	41372385	55	3782											
ZNF429	353088	broad.mit.edu;hgsc.bcm.edu	37	19	21720845	21720845	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr19:21720845A>T	ENST00000358491.4	+	4	2198	c.1990A>T	c.(1990-1992)Atc>Ttc	p.I664F	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I664F(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						aggtgggcggatcacgaggtc	0.463																																																1	Substitution - Missense(1)	kidney(1)											23	23	23					19																	21720845		1876	4109	5985	SO:0001583	missense	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1990A>T	19.37:g.21720845A>T	ENSP00000351280:p.Ile664Phe		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	9.004	0.980870	0.18812	.	.	ENSG00000197013	ENST00000358491	T	0.52754	0.65	0.418	0.418	0.16429	.	.	.	.	.	T	0.43077	0.1231	M	0.80616	2.505	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.37478	-0.9704	9	0.19147	T	0.46	.	4.9353	0.13937	1.0:0.0:0.0:0.0	.	664	Q86V71	ZN429_HUMAN	F	664	ENSP00000351280:I664F	ENSP00000351280:I664F	I	+	1	0	ZNF429	21512685	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.220000	0.09215	0.402000	0.25451	0.392000	0.25879	ATC		0.463	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		T	21720845	A	T	21720845	3	4	51	1	0	0	0	0	1	0	0	0	17907	333	12	5	2004	5	ZNF429	19	21720845	Missense_Mutation	SNP	A	TCGA-A3-3358-01A-01D-1534-10	3964247	21720845	37408138	56	3783											
RAB4B	53916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41286335	41286335	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr19:41286335G>A	ENST00000594800.1	+	3	303	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_3'UTR|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.R48Q|RAB4B_ENST00000357052.2_Missense_Mutation_p.R48Q			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	48					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)	p.R83Q(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTTGGATCCCGGGTGGTCAAC	0.592																																																1	Substitution - Missense(1)	kidney(1)											84	69	74					19																	41286335		2203	4300	6503	SO:0001583	missense	53916			AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.143G>A	19.37:g.41286335G>A	ENSP00000470246:p.Arg48Gln		P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258909	0.59321	.	.	ENSG00000167578	ENST00000357052;ENST00000378307	T;T	0.76709	-1.04;-1.04	4.89	2.78	0.32641	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	L	0.39467	1.215	0.48632	D	0.999682	D;P	0.59357	0.985;0.578	B;B	0.42138	0.377;0.204	T	0.67138	-0.5746	10	0.87932	D	0	.	8.2207	0.31539	0.2596:0.0:0.7404:0.0	.	83;48	P61018-2;P61018	.;RAB4B_HUMAN	Q	48	ENSP00000349560:R48Q;ENSP00000367557:R48Q	ENSP00000349560:R48Q	R	+	2	0	RAB4B	45978175	1.000000	0.71417	0.942000	0.38095	0.771000	0.43674	5.166000	0.64965	0.664000	0.31047	0.491000	0.48974	CGG		0.592	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		A	41286335	G	A	41286335	3	1	51	1	0	0	0	0	1	0	0	0	12953	1116	39	1	153	1	RAB4B	19	41286335	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	19565490	41286335	17842648	57	3784			1	7		2	2	16	G		3.391773e-05
RAB4B	53916	broad.mit.edu;ucsc.edu	37	19	41286350	41286350	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr19:41286350G>T	ENST00000594800.1	+	3	318	c.158G>T	c.(157-159)gGt>gTt	p.G53V	RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_3'UTR|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.G53V|RAB4B_ENST00000357052.2_Missense_Mutation_p.G53V			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	53					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)	p.G88V(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTCAACGTGGGTGGGAAGACT	0.582																																																1	Substitution - Missense(1)	kidney(1)											90	74	79					19																	41286350		2203	4300	6503	SO:0001583	missense	53916			AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.158G>T	19.37:g.41286350G>T	ENSP00000470246:p.Gly53Val		P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180591	0.57800	.	.	ENSG00000167578	ENST00000357052;ENST00000378307	T;T	0.81163	-1.46;-1.46	4.89	4.89	0.63831	Small GTP-binding protein domain (1);	0.059135	0.64402	D	0.000003	T	0.81669	0.4871	M	0.71581	2.175	0.80722	D	1	B;B	0.21821	0.061;0.047	B;B	0.28232	0.087;0.056	T	0.80705	-0.1263	10	0.66056	D	0.02	.	16.9821	0.86331	0.0:0.0:1.0:0.0	.	88;53	P61018-2;P61018	.;RAB4B_HUMAN	V	53	ENSP00000349560:G53V;ENSP00000367557:G53V	ENSP00000349560:G53V	G	+	2	0	RAB4B	45978190	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.353000	0.66034	2.537000	0.85549	0.491000	0.48974	GGT		0.582	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		T	41286350	G	T	41286350	3	4	51	1	0	0	0	0	1	0	0	0	12953	1261	44	4	168	4	RAB4B	19	41286350	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	15	41286350	17842633	58	3785			1	7		2	2	16	G		3.391773e-05
PSG5	5673	broad.mit.edu;hgsc.bcm.edu	37	19	43680096	43680096	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr19:43680096G>C	ENST00000366175.3	-	3	765	c.635C>G	c.(634-636)aCa>aGa	p.T212R	PSG5_ENST00000599812.1_Missense_Mutation_p.T305R|PSG5_ENST00000342951.6_Missense_Mutation_p.T212R|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Missense_Mutation_p.T212R|PSG5_ENST00000407356.1_Missense_Mutation_p.T212R			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	212	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.T212R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATAGGGTCCTGTTTCATTTCT	0.507																																																1	Substitution - Missense(1)	kidney(1)											137	136	136					19																	43680096		2201	4295	6496	SO:0001583	missense	5673				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.635C>G	19.37:g.43680096G>C	ENSP00000382334:p.Thr212Arg		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	g	10.96	1.497942	0.26861	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	1.08	-1.07	0.09968	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18087	0.0434	M	0.66297	2.02	0.42232	D	0.991896	B;P	0.36249	0.002;0.545	B;P	0.46629	0.039;0.522	T	0.21552	-1.0242	9	0.45353	T	0.12	.	3.5098	0.07704	0.0:0.0:0.5573:0.4427	.	305;212	Q15228;Q15238	.;PSG5_HUMAN	R	212	ENSP00000382334:T212R;ENSP00000386008:T212R;ENSP00000344413:T212R;ENSP00000385250:T212R	ENSP00000344413:T212R	T	-	2	0	PSG5	48371936	0.041000	0.20044	0.331000	0.25455	0.024000	0.10985	-0.506000	0.06359	0.504000	0.28082	0.184000	0.17185	ACA		0.507	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		C	43680096	G	C	43680096	3	2	51	1	0	0	0	0	1	0	0	0	12663	1377	48	4	384	4	PSG5	19	43680096	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	2393746	43680096	15448887	59	3786											
A1BG	1	broad.mit.edu	37	19	58863915	58863915	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr19:58863915A>T	ENST00000263100.3	-	4	408	c.347T>A	c.(346-348)tTg>tAg	p.L116*	A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	116	Ig-like V-type 2.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.L116*(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGGAGCAGGCAAGGACTCTGT	0.592																																																1	Substitution - Nonsense(1)	kidney(1)											79	84	82					19																	58863915		2198	4292	6490	SO:0001587	stop_gained	1				CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.347T>A	19.37:g.58863915A>T	ENSP00000263100:p.Leu116*		A8K052|Q68CK0|Q8IYJ6|Q96P39	Nonsense_Mutation	SNP	ENST00000263100.3	37	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.985765	0.93044	.	.	ENSG00000121410	ENST00000263100	.	.	.	3.39	3.39	0.38822	.	0.000000	0.36338	N	0.002650	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5008	0.33156	1.0:0.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000263100:L116X	L	-	2	0	A1BG	63555727	0.005000	0.15991	0.739000	0.30968	0.234000	0.25298	1.614000	0.36911	1.788000	0.52465	0.460000	0.39030	TTG		0.592	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		T	58863915	A	T	58863915	4	4	51	1	0	0	0	0	0	1	0	0	1	131	5	5	1160	5	A1BG	19	58863915	Nonsense_Mutation	SNP	A	TCGA-A3-3358-01A-01D-1534-10	15183819	58863915	265068	60	3787											
SUN5	140732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31572986	31572986	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr20:31572986C>T	ENST00000356173.3	-	12	995	c.903G>A	c.(901-903)atG>atA	p.M301I	SUN5_ENST00000375523.3_Missense_Mutation_p.M276I	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	301	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.M301I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GGGAGCCCTCCATGCCCTGTG	0.582																																																1	Substitution - Missense(1)	kidney(1)											77	76	76					20																	31572986		2203	4300	6503	SO:0001583	missense	140732			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.903G>A	20.37:g.31572986C>T	ENSP00000348496:p.Met301Ile		A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947531	0.34377	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.79749	-1.3;-1.3	5.67	3.64	0.41730	Sad1/UNC-like, C-terminal (2);	0.490007	0.23189	N	0.050921	T	0.54983	0.1892	N	0.02751	-0.505	0.80722	D	1	B	0.18610	0.029	B	0.16289	0.015	T	0.48703	-0.9012	10	0.23891	T	0.37	-18.4525	7.6204	0.28181	0.1606:0.6055:0.2339:0.0	.	301	Q8TC36	SUN5_HUMAN	I	301;276	ENSP00000348496:M301I;ENSP00000364673:M276I	ENSP00000348496:M301I	M	-	3	0	SUN5	31036647	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	1.604000	0.36804	1.357000	0.45904	0.561000	0.74099	ATG		0.582	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		T	31572986	C	T	31572986	3	4	51	1	0	0	0	0	1	0	0	0	15399	594	21	2	244	2	SUN5	20	31572986	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10		31572986	31452534	61	3788											
ZNF512B	57473	broad.mit.edu;hgsc.bcm.edu	37	20	62596015	62596015	+	Silent	SNP	C	C	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr20:62596015C>T	ENST00000450537.1	-	6	1149	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	ZNF512B_ENST00000369888.1_Silent_p.E363E|ZNF512B_ENST00000217130.3_Silent_p.E363E			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E363E(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACTCCCCATTCTCTGGCCTGG	0.667																																																1	Substitution - coding silent(1)	kidney(1)											65	57	60					20																	62596015		2203	4300	6503	SO:0001819	synonymous_variant	57473			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1089G>A	20.37:g.62596015C>T			Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																				0.667	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		T	62596015	C	T	62596015	2	4	51	1	0	0	0	0	0	0	0	1	17962	912	32	2		2	ZNF512B	20	62596015	Silent	SNP	C	TCGA-A3-3358-01A-01D-1534-10	31023029	62596015	429505	62	3789											
PKNOX1	5316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	44427621	44427621	+	Silent	SNP	A	A	G			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chr21:44427621A>G	ENST00000291547.5	+	3	283	c.72A>G	c.(70-72)ttA>ttG	p.L24L	PKNOX1_ENST00000432907.2_5'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	24					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L24L(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						TAACAGAGTTAAAGACAGAAC	0.468																																																1	Substitution - coding silent(1)	kidney(1)											115	112	113					21																	44427621		2203	4300	6503	SO:0001819	synonymous_variant	5316				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.72A>G	21.37:g.44427621A>G			O00528|Q8IWT7	Silent	SNP	ENST00000291547.5	37	CCDS13692.1																																																																																				0.468	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			G	44427621	A	G	44427621	2	3	51	1	0	0	0	0	0	0	0	1	11984	359	13	3		3	PKNOX1	21	44427621	Silent	SNP	A	TCGA-A3-3358-01A-01D-1534-10		44427621	3702274	63	3790											
MAGEB10	139422	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	27840135	27840135	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chrX:27840135C>A	ENST00000356790.2	+	3	957	c.712C>A	c.(712-714)Cac>Aac	p.H238N		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	238	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.H238N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CGGAATTGAGCACTTCATGTT	0.463																																																1	Substitution - Missense(1)	kidney(1)											54	49	50					X																	27840135		2202	4300	6502	SO:0001583	missense	139422				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.712C>A	X.37:g.27840135C>A	ENSP00000368304:p.His238Asn		Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808691	0.31961	.	.	ENSG00000177689	ENST00000356790	T	0.05025	3.51	2.33	1.44	0.22558	.	0.000000	0.85682	U	0.000000	T	0.08846	0.0219	M	0.64080	1.96	0.09310	N	1	P	0.43392	0.805	P	0.44860	0.462	T	0.12528	-1.0544	10	0.62326	D	0.03	.	5.6025	0.17361	0.3225:0.6775:0.0:0.0	.	238	Q96LZ2	MAGBA_HUMAN	N	238	ENSP00000368304:H238N	ENSP00000368304:H238N	H	+	1	0	MAGEB10	27750056	0.053000	0.20554	0.006000	0.13384	0.037000	0.13140	0.994000	0.29693	0.391000	0.25143	0.422000	0.28245	CAC		0.463	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		A	27840135	C	A	27840135	3	1	51	1	0	0	0	0	1	0	0	0	9175	710	25	4	714	4	MAGEB10	23	27840135	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10		27840135	127430425	64	3791											
WAS	7454	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48544489	48544489	+	Silent	SNP	A	A	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chrX:48544489A>T	ENST00000376701.4	+	6	600	c.525A>T	c.(523-525)ccA>ccT	p.P175P	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	175					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)	p.P175P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				GAGGGCTCCCACCCCTGCCCC	0.557			"Mis, N, F, S"			lymphoma																																	X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	1	Substitution - coding silent(1)	kidney(1)											80	69	72					X																	48544489		2203	4300	6503	SO:0001819	synonymous_variant	7454			AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.525A>T	X.37:g.48544489A>T			Q9BU11|Q9UNJ9	Silent	SNP	ENST00000376701.4	37	CCDS14303.1																																																																																				0.557	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		T	48544489	A	T	48544489	2	4	51	1	0	0	0	0	0	0	0	1	17256	146	6	5		5	WAS	23	48544489	Silent	SNP	A	TCGA-A3-3358-01A-01D-1534-10	20704354	48544489	106726071	65	3792											
WNK3	65267	hgsc.bcm.edu;ucsc.edu	37	X	54276546	54276546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chrX:54276546G>T	ENST00000375159.2	-	15	2593	c.2594C>A	c.(2593-2595)tCa>tAa	p.S865*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.S865*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.S865*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	865					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AACTGGGGATGACTGAGGAGC	0.403																																																0													38	33	34					X																	54276546		2203	4300	6503	SO:0001587	stop_gained	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2594C>A	X.37:g.54276546G>T	ENSP00000364301:p.Ser865*		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	41	8.856638	0.98980	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.5	5.5	0.81552	.	0.000000	0.47093	D	0.000250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6394	17.1006	0.86648	0.0:0.0:1.0:0.0	.	.	.	.	X	865	.	ENSP00000346667:S865X	S	-	2	0	WNK3	54293271	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.917000	0.87498	2.302000	0.77476	0.506000	0.49869	TCA		0.403	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		T	54276546	G	T	54276546	4	4	51	1	0	0	0	0	0	1	0	0	17384	1294	45	4	2844	4	WNK3	23	54276546	Nonsense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	5732057	54276546	100994014	66	3793											
ERCC6L	54821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	71426172	71426172	+	Silent	SNP	T	T	A			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chrX:71426172T>A	ENST00000334463.3	-	2	2580	c.2445A>T	c.(2443-2445)ccA>ccT	p.P815P	ERCC6L_ENST00000373657.1_Silent_p.P692P|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	815					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P815P(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CAAACCCCTTTGGTAAAGTAG	0.383																																																1	Substitution - coding silent(1)	kidney(1)											95	87	90					X																	71426172		2203	4300	6503	SO:0001819	synonymous_variant	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2445A>T	X.37:g.71426172T>A			Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	CCDS35329.1																																																																																				0.383	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		A	71426172	T	A	71426172	2	1	51	1	0	0	0	0	0	0	0	1	5220	1799	63	5		5	ERCC6L	23	71426172	Silent	SNP	T	TCGA-A3-3358-01A-01D-1534-10	17149626	71426172	83844388	67	3794											
ATRX	546	broad.mit.edu	37	X	76777788	76777788	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chrX:76777788G>T	ENST00000373344.5	-	32	7142	c.6928C>A	c.(6928-6930)Cct>Act	p.P2310T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.P2272T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2310					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.P2310T(2)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAATTGAAAGGAATATAAGGA	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Substitution - Missense(2)	kidney(2)											111	106	108					X																	76777788		2203	4295	6498	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6928C>A	X.37:g.76777788G>T	ENSP00000362441:p.Pro2310Thr		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305990	0.23736	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92348	-3.02;-3.02	5.65	5.65	0.86999	.	0.230277	0.37219	U	0.002186	D	0.94377	0.8192	L	0.48642	1.525	0.80722	D	1	D;B	0.76494	0.999;0.296	D;B	0.65323	0.934;0.066	D	0.94587	0.7784	10	0.59425	D	0.04	-6.8457	18.7615	0.91853	0.0:0.0:1.0:0.0	.	2272;2310	P46100-4;P46100	.;ATRX_HUMAN	T	2310;2272	ENSP00000362441:P2310T;ENSP00000378967:P2272T	ENSP00000362441:P2310T	P	-	1	0	ATRX	76664444	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.159000	0.77483	2.376000	0.81061	0.429000	0.28392	CCT		0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		T	76777788	G	T	76777788	3	4	51	1	0	0	0	0	1	0	0	0	1208	1174	41	4	566	4	ATRX	23	76777788	Missense_Mutation	SNP	G	TCGA-A3-3358-01A-01D-1534-10	5351616	76777788	78492772	68	3795											
GPC3	2719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	132834052	132834052	+	Missense_Mutation	SNP	C	C	A	rs373916851		TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chrX:132834052C>A	ENST00000370818.3	-	4	1482	c.1037G>T	c.(1036-1038)gGc>gTc	p.G346V	GPC3_ENST00000543339.1_Missense_Mutation_p.G292V|GPC3_ENST00000394299.2_Missense_Mutation_p.G369V	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	346					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.G346V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACATAACTTGCCAATCTGAAA	0.318			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																													yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	1	Substitution - Missense(1)	kidney(1)						C	VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY	1,3834		0,1,1631,571	79	77	78		1106,989,875,1037	5.3	1	X		78	0,6726		0,0,2428,1870	no	missense,missense,missense,missense	GPC3	NM_001164617.1,NM_001164618.1,NM_001164619.1,NM_004484.3	109,109,109,109	0,1,4059,2441	AA,AC,CC,C		0.0,0.0261,0.0095	benign,benign,benign,benign	369/604,330/565,292/527,346/581	132834052	1,10560	2203	4298	6501	SO:0001583	missense	2719	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1037G>T	X.37:g.132834052C>A	ENSP00000359854:p.Gly346Val		C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	CCDS14638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.10|14.10	2.435921|2.435921	0.43224|0.43224	2.61E-4|2.61E-4	0.0|0.0	ENSG00000147257|ENSG00000147257	ENST00000406757|ENST00000370818;ENST00000394299;ENST00000543339	.|T;T;T	.|0.47869	.|0.83;0.83;0.83	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.053573	.|0.64402	.|D	.|0.000001	T|T	0.42017|0.42017	0.1184|0.1184	L|L	0.29908|0.29908	0.895|0.895	0.54753|0.54753	D|D	0.999984|0.999984	.|B;B;B;B	.|0.33345	.|0.244;0.356;0.409;0.244	.|B;B;B;B	.|0.41135	.|0.348;0.236;0.348;0.348	T|T	0.44605|0.44605	-0.9317|-0.9317	5|10	.|0.66056	.|D	.|0.02	.|.	10.5674|10.5674	0.45181|0.45181	0.0:0.9099:0.0:0.0901|0.0:0.9099:0.0:0.0901	.|.	.|330;292;369;346	.|B4DTD8;G3V1R0;C9JLE3;P51654	.|.;.;.;GPC3_HUMAN	S|V	76|346;369;292	.|ENSP00000359854:G346V;ENSP00000377836:G369V;ENSP00000444222:G292V	.|ENSP00000359854:G346V	A|G	-|-	1|2	0|0	GPC3|GPC3	132661718|132661718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	2.250000|2.250000	0.43178|0.43178	2.199000|2.199000	0.70637|0.70637	0.436000|0.436000	0.28706|0.28706	GCA|GGC		0.318	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		A	132834052	C	A	132834052	3	1	51	1	0	0	0	0	1	0	0	0	6601	739	26	4	725	4	GPC3	23	132834052	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	56056264	132834052	22436508	69	3796											
ZNF75D	7626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	134427883	134427883	+	Missense_Mutation	SNP	C	C	T	rs370618867		TCGA-A3-3358-01A-01D-1534-10	TCGA-A3-3358-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fd42afa7-6f0f-48e8-a947-bb9c9f4770ef	a7a2b9c5-641d-4644-99d2-a4beeac3aa0e	g.chrX:134427883C>T	ENST00000370766.3	-	3	2893	c.184G>A	c.(184-186)Gga>Aga	p.G62R	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.G62R	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	62	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G62R(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TCAAGCGGTCCGGTTGCTTCA	0.473																																																1	Substitution - Missense(1)	kidney(1)						C	ARG/GLY,ARG/GLY	0,3835		0,0,1632,571	90	78	82		184,184	2.1	0	X		82	1,6727		0,1,2427,1872	no	missense,missense	ZNF75D	NM_001185063.1,NM_007131.3	125,125	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	62/416,62/511	134427883	1,10562	2203	4300	6503	SO:0001583	missense	7626			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.184G>A	X.37:g.134427883C>T	ENSP00000359802:p.Gly62Arg		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576290	0.45902	0.0	1.49E-4	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.06294	3.32;3.32	2.99	2.08	0.27032	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.18593	0.0446	M	0.83852	2.665	0.09310	N	1	D;D	0.69078	0.993;0.997	P;P	0.56916	0.809;0.809	T	0.05451	-1.0884	9	0.72032	D	0.01	.	7.0197	0.24907	0.0:0.7216:0.2784:0.0	.	62;62	P51815;A6NK62	ZN75D_HUMAN;.	R	62	ENSP00000359802:G62R;ENSP00000359800:G62R	ENSP00000359800:G62R	G	-	1	0	ZNF75D	134255549	0.507000	0.26146	0.002000	0.10522	0.068000	0.16541	2.265000	0.43311	0.628000	0.30357	0.509000	0.49947	GGA		0.473	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		T	134427883	C	T	134427883	3	4	51	1	0	0	0	0	1	0	0	0	18139	661	23	1	1368	1	ZNF75D	23	134427883	Missense_Mutation	SNP	C	TCGA-A3-3358-01A-01D-1534-10	1593831	134427883	20842677	70	3797											
KIAA0467	23334	broad.mit.edu;ucsc.edu	37	1	43897031	43897031	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr1:43897031C>T	ENST00000562955.1	+	33	4841	c.4841C>T	c.(4840-4842)cCa>cTa	p.P1614L	SZT2_ENST00000372442.1_Missense_Mutation_p.P772L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1671					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.P772L(2)|p.P1614L(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGCCACCCCCAGAAGAGGAG	0.463																																																3	Substitution - Missense(3)	kidney(3)											104	116	112					1																	43897031		2203	4300	6503	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4841C>T	1.37:g.43897031C>T	ENSP00000457168:p.Pro1614Leu		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279421	0.23307	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.21	4.29	0.51040	.	0.154027	0.47455	D	0.000223	T	0.23886	0.0578	N	0.14661	0.345	0.29483	N	0.856227	B	0.33238	0.403	B	0.28232	0.087	T	0.09952	-1.0651	9	0.20519	T	0.43	.	13.1775	0.59635	0.2906:0.7094:0.0:0.0	.	1614	Q5T011-5	.	L	772	.	ENSP00000361519:P772L	P	+	2	0	SZT2	43669618	0.826000	0.29277	1.000000	0.80357	0.914000	0.54420	2.152000	0.42272	1.312000	0.45043	-0.311000	0.09066	CCA		0.463	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		T	43897031	C	T	43897031	3	4	52	1	0	0	0	0	1	0	0	0	8180	594	21	2	2381	2	KIAA0467	1	43897031	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10		43897031	205353590	1	3798											
CYP2J2	1573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	60359336	60359336	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr1:60359336A>T	ENST00000371204.3	-	9	1539	c.1496T>A	c.(1495-1497)gTt>gAt	p.V499D	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	499					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)	p.V499D(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CACCTGAGGAACAGCGCAGAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											292	317	308					1																	60359336		2203	4300	6503	SO:0001583	missense	1573			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1496T>A	1.37:g.60359336A>T	ENSP00000360247:p.Val499Asp		B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	CCDS613.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521654	0.85600	.	.	ENSG00000134716	ENST00000371204	T	0.80214	-1.35	5.88	5.88	0.94601	.	0.819556	0.11160	N	0.593137	T	0.71804	0.3383	N	0.08118	0	0.53005	D	0.999961	P	0.44380	0.834	P	0.45474	0.482	T	0.73285	-0.4031	10	0.87932	D	0	.	13.832	0.63386	1.0:0.0:0.0:0.0	.	499	P51589	CP2J2_HUMAN	D	499	ENSP00000360247:V499D	ENSP00000360247:V499D	V	-	2	0	CYP2J2	60131924	0.595000	0.26857	0.340000	0.25575	0.610000	0.37248	5.458000	0.66679	2.255000	0.74692	0.533000	0.62120	GTT		0.468	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		T	60359336	A	T	60359336	3	4	52	1	0	0	0	0	1	0	0	0	4174	43	2	5	16	5	CYP2J2	1	60359336	Missense_Mutation	SNP	A	TCGA-A3-3362-01A-02D-1386-10	16462305	60359336	188891285	2	3799											
ILF2	3608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153637769	153637769	+	Silent	SNP	A	A	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr1:153637769A>G	ENST00000361891.4	-	8	629	c.504T>C	c.(502-504)tcT>tcC	p.S168S	ILF2_ENST00000480213.1_5'Flank	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	168	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)	p.S168S(1)		cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAGCATCAGAAGAACTGATTT	0.358																																																1	Substitution - coding silent(1)	kidney(1)											104	101	102					1																	153637769		2203	4300	6503	SO:0001819	synonymous_variant	3608			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"interleukin enhancer binding factor 2, 45kD", "interleukin enhancer binding factor 2, 45kDa"			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.504T>C	1.37:g.153637769A>G			A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Silent	SNP	ENST00000361891.4	37	CCDS1050.1																																																																																				0.358	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		G	153637769	A	G	153637769	2	3	52	1	0	0	0	0	0	0	0	1	7713	59	3	3		3	ILF2	1	153637769	Silent	SNP	A	TCGA-A3-3362-01A-02D-1386-10	93278433	153637769	95612852	3	3800											
NUP210L	91181	broad.mit.edu;ucsc.edu	37	1	154031095	154031095	+	Silent	SNP	T	T	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr1:154031095T>A	ENST00000368559.3	-	21	2996	c.2925A>T	c.(2923-2925)acA>acT	p.T975T	NUP210L_ENST00000271854.3_Silent_p.T975T|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	975					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.T975T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGAGGTGGGCTGTTGCTGGAC	0.413																																																1	Substitution - coding silent(1)	kidney(1)											95	87	89					1																	154031095		1875	4098	5973	SO:0001819	synonymous_variant	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2925A>T	1.37:g.154031095T>A			E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	CCDS41399.1																																																																																				0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		A	154031095	T	A	154031095	2	1	52	1	0	0	0	0	0	0	0	1	10763	1567	55	5		5	NUP210L	1	154031095	Silent	SNP	T	TCGA-A3-3362-01A-02D-1386-10	393326	154031095	95219526	4	3801											
TAF5L	27097	broad.mit.edu;hgsc.bcm.edu	37	1	229738474	229738474	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr1:229738474T>G	ENST00000366676.1	-	3	439	c.440A>C	c.(439-441)cAg>cCg	p.Q147P	TAF5L_ENST00000258281.2_Missense_Mutation_p.Q147P|TAF5L_ENST00000366675.3_Missense_Mutation_p.Q147P			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	147					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q147P(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TAGGATGTCCTGGATGGTTTG	0.463																																																2	Substitution - Missense(2)	kidney(2)											145	138	141					1																	229738474		2203	4300	6503	SO:0001583	missense	27097			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.440A>C	1.37:g.229738474T>G	ENSP00000355636:p.Gln147Pro		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873173	0.72180	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.60672	0.17;0.17;0.72	5.8	4.67	0.58626	TFIID subunit, WD40-associated region (1);	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.974;0.989	T	0.60831	-0.7185	9	.	.	.	-20.9071	11.8181	0.52222	0.0:0.0685:0.0:0.9315	.	147;147	O75529-2;O75529	.;TAF5L_HUMAN	P	147	ENSP00000355636:Q147P;ENSP00000258281:Q147P;ENSP00000355635:Q147P	.	Q	-	2	0	TAF5L	227805097	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.661000	0.83786	1.021000	0.39600	0.528000	0.53228	CAG		0.463	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		G	229738474	T	G	229738474	3	3	52	1	0	0	0	0	1	0	0	0	15534	1580	55	5	1343	5	TAF5L	1	229738474	Missense_Mutation	SNP	T	TCGA-A3-3362-01A-02D-1386-10	75707379	229738474	19512147	5	3802											
HPCAL1	3241	broad.mit.edu	37	2	10560058	10560058	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr2:10560058G>A	ENST00000381765.3	+	4	701	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	HPCAL1_ENST00000307845.3_Missense_Mutation_p.G59S	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	59					signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G59S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CTTCCCCTACGGCGACGCTTC	0.607																																					Pancreas(70;1384 1800 31595 46836)											1	Substitution - Missense(1)	kidney(1)											109	87	95					2																	10560058		2203	4300	6503	SO:0001583	missense	3241				CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"EF-hand domain containing"	5145	protein-coding gene	gene with protein product	"visinin-like protein 3", "calcium-binding protein BDR-1"	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.175G>A	2.37:g.10560058G>A	ENSP00000371184:p.Gly59Ser		Q969S5	Missense_Mutation	SNP	ENST00000381765.3	37	CCDS1671.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951872	0.92660	.	.	ENSG00000115756	ENST00000307845;ENST00000381765	T;T	0.29142	1.58;1.58	5.17	3.34	0.38264	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	M	0.76002	2.32	0.80722	D	1	D	0.65815	0.995	P	0.56163	0.793	T	0.42732	-0.9434	9	.	.	.	.	11.836	0.52323	0.145:0.0:0.855:0.0	.	59	P37235	HPCL1_HUMAN	S	59	ENSP00000310749:G59S;ENSP00000371184:G59S	.	G	+	1	0	HPCAL1	10477509	1.000000	0.71417	0.920000	0.36463	0.862000	0.49288	7.943000	0.87716	0.548000	0.28955	0.561000	0.74099	GGC		0.607	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149		A	10560058	G	A	10560058	3	1	52	1	0	0	0	0	1	0	0	0	7332	1116	39	1	177	1	HPCAL1	2	10560058	Missense_Mutation	SNP	G	TCGA-A3-3362-01A-02D-1386-10		10560058	232639315	6	3803											
SCN9A	6335	hgsc.bcm.edu;ucsc.edu	37	2	167055463	167055463	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr2:167055463delT	ENST00000409435.1	-	26	5685	c.5686delA	c.(5686-5688)attfs	p.I1896fs	SCN9A_ENST00000409672.1_Frame_Shift_Del_p.I1885fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.I1897fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Frame_Shift_Del_p.I1897fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1896	IQ.				behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCACGCTGAATGACAGTAGCA	0.378																																																0													186	197	193					2																	167055463		2189	4293	6482	SO:0001589	frameshift_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5686delA	2.37:g.167055463delT	ENSP00000386330:p.Ile1896fs		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Del	DEL	ENST00000409435.1	37	CCDS46441.1																																																																																				0.378	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		-	167055463	T	-	167055463	7	5	52	1	0	1	0	1	0	0	0	0	13931	1464	51	0	284	0	SCN9A	2	167055463	Frame_Shift_Del	DEL	T	TCGA-A3-3362-01A-02D-1386-10	156495405	167055463	76143910	7	3804											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179468975	179468975	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr2:179468975A>G	ENST00000591111.1	-	232	49740	c.49516T>C	c.(49516-49518)Tat>Cat	p.Y16506H	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y18147H|TTN_ENST00000342992.6_Missense_Mutation_p.Y15579H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y9274H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y9207H|TTN_ENST00000460472.2_Missense_Mutation_p.Y9082H|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16506	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y15579H(2)|p.Y9207H(1)|p.Y9274H(1)|p.Y9082H(1)		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)			CTGATTCCATATTTATTCACT	0.383																																																5	Substitution - Missense(5)	kidney(5)											78	75	76					2																	179468975		1888	4121	6009	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49516T>C	2.37:g.179468975A>G	ENSP00000465570:p.Tyr16506His		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	14.36	2.512438	0.44660	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69940	0.3167	L	0.58510	1.815	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.972;0.972;0.972;0.985	T	0.72007	-0.4420	9	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	9082;9207;9274;16506	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15579;9082;9274;9207;9082	ENSP00000343764:Y15579H;ENSP00000434586:Y9082H;ENSP00000340554:Y9274H;ENSP00000352154:Y9207H	ENSP00000340554:Y9274H	Y	-	1	0	TTN	179177220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.281000	0.95811	2.371000	0.80710	0.533000	0.62120	TAT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179468975	A	G	179468975	3	3	52	1	0	0	0	0	1	0	0	0	16740	449	16	3	53578	3	TTN	2	179468975	Missense_Mutation	SNP	A	TCGA-A3-3362-01A-02D-1386-10	12413512	179468975	63730398	8	3805											
NHEJ1	79840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219942000	219942000	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr2:219942000G>A	ENST00000356853.5	-	7	926	c.793C>T	c.(793-795)Cca>Tca	p.P265S	NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Missense_Mutation_p.P265S	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	265					B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P265S(1)		kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		GAGAGGGTTGGGGCTGAGGAG	0.522								Non-homologous end-joining																																								1	Substitution - Missense(1)	kidney(1)											180	153	162					2																	219942000		2203	4300	6503	SO:0001583	missense	79840			AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.793C>T	2.37:g.219942000G>A	ENSP00000349313:p.Pro265Ser		B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Missense_Mutation	SNP	ENST00000356853.5	37	CCDS2432.1	.	.	.	.	.	.	.	.	.	.	G	0.280	-0.987258	0.02180	.	.	ENSG00000187736	ENST00000409720;ENST00000356853;ENST00000426304	T;T;T	0.61040	0.14;0.37;0.58	5.0	0.886	0.19194	.	0.981330	0.08286	N	0.969126	T	0.35335	0.0928	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.23368	-1.0190	10	0.07990	T	0.79	-20.4149	3.7964	0.08741	0.0874:0.3039:0.4523:0.1564	.	265	Q9H9Q4	NHEJ1_HUMAN	S	265;265;190	ENSP00000387290:P265S;ENSP00000349313:P265S;ENSP00000394896:P190S	ENSP00000349313:P265S	P	-	1	0	NHEJ1	219650244	0.115000	0.22152	0.000000	0.03702	0.017000	0.09413	0.668000	0.25127	-0.019000	0.14055	0.655000	0.94253	CCA		0.522	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256817.2	NM_024782		A	219942000	G	A	219942000	3	1	52	1	0	0	0	0	1	0	0	0	10404	1232	43	2	114	2	NHEJ1	2	219942000	Missense_Mutation	SNP	G	TCGA-A3-3362-01A-02D-1386-10	40473025	219942000	23257373	9	3806											
SPHKAP	80309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228882779	228882779	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr2:228882779C>T	ENST00000392056.3	-	7	2837	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E931K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	931	PKA-RII subunit binding domain. {ECO:0000250}.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.E931K(2)|p.E931*(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTAATTCTTCCGCAAAGTCT	0.473																																																4	Substitution - Missense(2)|Substitution - Nonsense(2)	kidney(4)											189	171	177					2																	228882779		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2791G>A	2.37:g.228882779C>T	ENSP00000375909:p.Glu931Lys		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237669	0.79800	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.18657	2.2;2.21	6.08	6.08	0.98989	.	0.092028	0.85682	D	0.000000	T	0.51244	0.1663	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.80764	0.862;0.994	T	0.49224	-0.8962	10	0.87932	D	0	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	931;931	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	931	ENSP00000375909:E931K;ENSP00000339886:E931K	ENSP00000339886:E931K	E	-	1	0	SPHKAP	228591023	1.000000	0.71417	0.980000	0.43619	0.402000	0.30811	7.194000	0.77789	2.894000	0.99253	0.655000	0.94253	GAA		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228882779	C	T	228882779	3	4	52	1	0	0	0	0	1	0	0	0	15053	864	30	2	2335	2	SPHKAP	2	228882779	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10	8940779	228882779	14316594	10	3807											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10188321	10188321	+	Splice_Site	SNP	G	G	C	rs5030814	byFrequency	TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr3:10188321G>C	ENST00000256474.2	+	2	1303		c.e2+1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(13)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACACTGCCAGGTACTGACGTT	0.403		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	13	Unknown(13)	kidney(12)|endometrium(1)	GRCh37	CS004297|CS961708	VHL	S	rs5030814						166	158	161					3																	10188321		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.463+1G>C	3.37:g.10188321G>C			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501642	0.64298	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4002	0.74834	0.0:0.0:1.0:0.0	rs5030814	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163321	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.278000	0.78587	2.310000	0.77875	0.462000	0.41574	.		0.403	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	C	10188321	G	C	10188321	5	2	52	1	0	0	0	0	0	0	1	0	17167	1275	44	4	470	4	VHL	3	10188321	Splice_Site	SNP	G	TCGA-A3-3362-01A-02D-1386-10		10188321	187834109	11	3808											
LAMB2	3913	broad.mit.edu	37	3	49168474	49168474	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr3:49168474T>C	ENST00000418109.1	-	8	988	c.824A>G	c.(823-825)tAt>tGt	p.Y275C	LAMB2_ENST00000305544.4_Missense_Mutation_p.Y275C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	275	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.Y275C(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACCAGCTCATAGAGGGCATA	0.587																																																1	Substitution - Missense(1)	kidney(1)											148	136	140					3																	49168474		2203	4300	6503	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.824A>G	3.37:g.49168474T>C	ENSP00000388325:p.Tyr275Cys		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.741166	0.49151	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.75938	-0.98;-0.98;-0.98	4.76	4.76	0.60689	Laminin, N-terminal (3);	0.067205	0.64402	D	0.000009	D	0.88786	0.6531	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90348	0.4364	10	0.45353	T	0.12	.	13.6789	0.62472	0.0:0.0:0.0:1.0	.	275	P55268	LAMB2_HUMAN	C	275;275;126	ENSP00000388325:Y275C;ENSP00000307156:Y275C;ENSP00000444751:Y126C	ENSP00000307156:Y275C	Y	-	2	0	LAMB2	49143478	1.000000	0.71417	0.994000	0.49952	0.182000	0.23217	7.476000	0.81055	2.126000	0.65437	0.533000	0.62120	TAT		0.587	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		C	49168474	T	C	49168474	3	2	52	1	0	0	0	0	1	0	0	0	8613	1406	49	3	4676	3	LAMB2	3	49168474	Missense_Mutation	SNP	T	TCGA-A3-3362-01A-02D-1386-10	38980153	49168474	148853956	12	3809											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52649414	52649414	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr3:52649414C>A	ENST00000296302.7	-	15	1878	c.1877G>T	c.(1876-1878)gGc>gTc	p.G626V	PBRM1_ENST00000409057.1_Missense_Mutation_p.G626V|PBRM1_ENST00000394830.3_Missense_Mutation_p.G626V|PBRM1_ENST00000409767.1_Missense_Mutation_p.G641V|PBRM1_ENST00000356770.4_Missense_Mutation_p.G594V|PBRM1_ENST00000337303.4_Missense_Mutation_p.G626V|PBRM1_ENST00000410007.1_Missense_Mutation_p.G626V|PBRM1_ENST00000409114.3_Missense_Mutation_p.G641V			Q86U86	PB1_HUMAN	polybromo 1	626					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G626V(2)|p.G594V(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGGCAGTGGGCCCAGCTCTTT	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											114	103	106					3																	52649414		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1877G>T	3.37:g.52649414C>A	ENSP00000296302:p.Gly626Val		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.038043	0.75617	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.69	5.69	0.88448	Bromodomain (2);	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;0.991;0.999;0.999	T	0.01951	-1.1241	10	0.51188	T	0.08	-22.5552	19.8084	0.96538	0.0:1.0:0.0:0.0	.	626;626;626;626;641;641;626;594;626	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	V	594;626;626;626;626;626;641;641;626;585	ENSP00000349213:G594V;ENSP00000378307:G626V;ENSP00000296302:G626V;ENSP00000338302:G626V;ENSP00000386593:G626V;ENSP00000386529:G626V;ENSP00000386643:G641V;ENSP00000386601:G641V;ENSP00000387775:G626V;ENSP00000397662:G585V	ENSP00000296302:G626V	G	-	2	0	PBRM1	52624454	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	7.818000	0.86416	2.687000	0.91594	0.462000	0.41574	GGC		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52649414	C	A	52649414	3	1	52	1	0	0	0	0	1	0	0	0	11493	739	26	4	3087	4	PBRM1	3	52649414	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10	3480940	52649414	145373016	13	3810											
IGSF10	285313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	151160939	151160939	+	Silent	SNP	A	A	C			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr3:151160939A>C	ENST00000282466.3	-	5	5795	c.5796T>G	c.(5794-5796)ctT>ctG	p.L1932L	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1932	Ig-like C2-type 5.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.L1932L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTCCATTGTAAGCATTACTA	0.463																																																1	Substitution - coding silent(1)	kidney(1)											120	122	121					3																	151160939		2203	4300	6503	SO:0001819	synonymous_variant	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5796T>G	3.37:g.151160939A>C			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																				0.463	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151160939	A	C	151160939	2	2	52	1	0	0	0	0	0	0	0	1	7599	349	13	5		5	IGSF10	3	151160939	Silent	SNP	A	TCGA-A3-3362-01A-02D-1386-10	98511525	151160939	46861491	14	3811											
KCNAB1	7881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	156009745	156009745	+	Intron	SNP	G	G	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr3:156009745G>T	ENST00000490337.1	+	2	339				KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G17C|KCNAB1_ENST00000302490.8_Missense_Mutation_p.G17C	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.G17C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAGTCGGAATGGTGAGGACCG	0.597																																																1	Substitution - Missense(1)	kidney(1)											75	71	72					3																	156009745		2203	4300	6503	SO:0001627	intron_variant	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129660G>T	3.37:g.156009745G>T			A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628270	0.87560	.	.	ENSG00000169282	ENST00000302490;ENST00000389634	T;T	0.10382	3.22;2.88	5.04	5.04	0.67666	.	0.264408	0.37483	N	0.002066	T	0.21509	0.0518	L	0.44542	1.39	0.80722	D	1	P;P	0.50443	0.935;0.835	P;P	0.54460	0.753;0.682	T	0.00426	-1.1746	10	0.66056	D	0.02	.	17.9603	0.89083	0.0:0.0:1.0:0.0	.	17;17	F8W6W4;B3KPZ4	.;.	C	17	ENSP00000305858:G17C;ENSP00000374285:G17C	ENSP00000305858:G17C	G	+	1	0	KCNAB1	157492439	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.615000	0.98356	2.349000	0.79799	0.460000	0.39030	GGT		0.597	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		T	156009745	G	T	156009745	1	4	52	0	1	0	0	0	0	0	0	0	8011	1348	47	4		4	KCNAB1	3	156009745	Intron	SNP	G	TCGA-A3-3362-01A-02D-1386-10	4848806	156009745	42012685	15	3812											
LPHN3	23284	hgsc.bcm.edu	37	4	62936198	62936198	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr4:62936198delC	ENST00000514591.1	+	25	4311	c.3982delC	c.(3982-3984)cctfs	p.P1328fs	LPHN3_ENST00000506720.1_Frame_Shift_Del_p.P1439fs|LPHN3_ENST00000512091.2_3'UTR|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000508946.1_Frame_Shift_Del_p.P1371fs|LPHN3_ENST00000506746.1_Frame_Shift_Del_p.P1430fs|LPHN3_ENST00000545650.1_Frame_Shift_Del_p.P1328fs|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000514996.1_Frame_Shift_Del_p.P1362fs|LPHN3_ENST00000509896.1_3'UTR|RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000507625.1_Frame_Shift_Del_p.P1387fs			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1306					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATCTGATGCTCCTTTGCTGCC	0.517																																																0													85	76	79					4																	62936198		692	1591	2283	SO:0001589	frameshift_variant	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3982delC	4.37:g.62936198delC	ENSP00000422533:p.Pro1328fs		E9PE04|O94867|Q9NWK5	Frame_Shift_Del	DEL	ENST00000514591.1	37	CCDS54768.1																																																																																				0.517	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			-	62936198	C	-	62936198	7	5	52	1	0	1	0	1	0	0	0	0	8919	855	30	0	4072	0	LPHN3	4	62936198	Frame_Shift_Del	DEL	C	TCGA-A3-3362-01A-02D-1386-10		62936198	128218078	16	3813											
HSPA4L	22824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	128729255	128729255	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr4:128729255A>T	ENST00000296464.4	+	11	1760	c.1349A>T	c.(1348-1350)cAt>cTt	p.H450L	HSPA4L_ENST00000508776.1_Missense_Mutation_p.H450L|HSPA4L_ENST00000439123.2_Missense_Mutation_p.H481L|HSPA4L_ENST00000505726.1_Missense_Mutation_p.H424L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	450					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.H450L(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ACTAATTTACATGAAGTGCCT	0.318																																																1	Substitution - Missense(1)	kidney(1)											79	80	80					4																	128729255		2203	4298	6501	SO:0001583	missense	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1349A>T	4.37:g.128729255A>T	ENSP00000296464:p.His450Leu		A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.879172	0.51801	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	4.99	3.81	0.43845	.	0.185311	0.48286	D	0.000198	T	0.05823	0.0152	L	0.34521	1.04	0.39596	D	0.969656	B;B;B	0.32010	0.022;0.351;0.175	B;B;B	0.37780	0.063;0.258;0.061	T	0.42361	-0.9456	10	0.45353	T	0.12	.	10.6497	0.45640	0.9247:0.0:0.0753:0.0	.	424;450;450	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	L	450;481;450;409;424	ENSP00000422482:H450L;ENSP00000393926:H481L;ENSP00000296464:H450L;ENSP00000427305:H409L;ENSP00000425645:H424L	ENSP00000296464:H450L	H	+	2	0	HSPA4L	128948705	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	4.409000	0.59768	0.919000	0.36945	0.533000	0.62120	CAT		0.318	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		T	128729255	A	T	128729255	3	4	52	1	0	0	0	0	1	0	0	0	7415	217	8	5	1391	5	HSPA4L	4	128729255	Missense_Mutation	SNP	A	TCGA-A3-3362-01A-02D-1386-10	65793057	128729255	62425021	17	3814											
PAIP1	10605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43555944	43555944	+	Silent	SNP	A	A	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr5:43555944A>T	ENST00000306846.3	-	2	655	c.423T>A	c.(421-423)tcT>tcA	p.S141S	PAIP1_ENST00000338972.4_Silent_p.S29S|PAIP1_ENST00000436644.2_Silent_p.S62S|PAIP1_ENST00000514514.1_Silent_p.S62S	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	141	PABPC1-interacting motif-2 (PAM2).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.S141S(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TGTAACTGGAAGAATAACCTG	0.408																																																1	Substitution - coding silent(1)	kidney(1)											121	131	127					5																	43555944		2203	4300	6503	SO:0001819	synonymous_variant	10605			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.423T>A	5.37:g.43555944A>T			A6NKV8|O60455|Q96B61|Q9BS63	Silent	SNP	ENST00000306846.3	37	CCDS3947.1																																																																																				0.408	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		T	43555944	A	T	43555944	2	4	52	1	0	0	0	0	0	0	0	1	11398	59	3	5		5	PAIP1	5	43555944	Silent	SNP	A	TCGA-A3-3362-01A-02D-1386-10		43555944	137359316	18	3815											
LNPEP	4012	broad.mit.edu	37	5	96350753	96350753	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr5:96350753A>G	ENST00000231368.5	+	13	3022	c.2330A>G	c.(2329-2331)aAc>aGc	p.N777S	LNPEP_ENST00000395770.3_Missense_Mutation_p.N763S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	777					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N777S(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTCATCTATAACCTCCTTGAA	0.418																																																1	Substitution - Missense(1)	kidney(1)											107	100	103					5																	96350753		2203	4300	6503	SO:0001583	missense	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2330A>G	5.37:g.96350753A>G	ENSP00000231368:p.Asn777Ser		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	8.732	0.916996	0.17907	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.04603	3.59;3.59	5.55	5.55	0.83447	.	0.248468	0.47852	D	0.000217	T	0.03178	0.0093	N	0.22421	0.69	0.28224	N	0.926402	B	0.02656	0.0	B	0.08055	0.003	T	0.41963	-0.9479	10	0.07325	T	0.83	.	8.2028	0.31434	0.8501:0.0:0.1499:0.0	.	777	Q9UIQ6	LCAP_HUMAN	S	777;763	ENSP00000231368:N777S;ENSP00000379117:N763S	ENSP00000231368:N777S	N	+	2	0	LNPEP	96376509	0.992000	0.36948	0.990000	0.47175	0.509000	0.34042	1.695000	0.37763	2.105000	0.64084	0.533000	0.62120	AAC		0.418	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		G	96350753	A	G	96350753	3	3	52	1	0	0	0	0	1	0	0	0	8866	43	2	3	2380	3	LNPEP	5	96350753	Missense_Mutation	SNP	A	TCGA-A3-3362-01A-02D-1386-10	52794809	96350753	84564507	19	3816											
MCC	4163	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112458491	112458491	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr5:112458491T>G	ENST00000302475.4	-	4	910	c.347A>C	c.(346-348)gAa>gCa	p.E116A	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.E53A|MCC_ENST00000408903.3_Missense_Mutation_p.E306A	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	116					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E116A(1)|p.E306A(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTGGCTGAGTTCTGATCGCAG	0.478																																																2	Substitution - Missense(2)	kidney(2)											148	123	131					5																	112458491		2202	4300	6502	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.347A>C	5.37:g.112458491T>G	ENSP00000305617:p.Glu116Ala		D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490437	0.64074	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.78816	-1.21;2.07;0.84	5.76	5.76	0.90799	.	0.110593	0.64402	D	0.000013	T	0.60209	0.2251	N	0.08118	0	0.58432	D	0.999994	P;B;P;B	0.40731	0.608;0.083;0.728;0.319	B;B;B;B	0.38500	0.052;0.023;0.275;0.052	T	0.62201	-0.6904	10	0.18710	T	0.47	-12.934	15.7436	0.77920	0.0:0.0:0.0:1.0	.	116;78;306;116	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	A	116;53;306	ENSP00000305617:E116A;ENSP00000421615:E53A;ENSP00000386227:E306A	ENSP00000305617:E116A	E	-	2	0	MCC	112486390	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	6.355000	0.73041	2.200000	0.70718	0.460000	0.39030	GAA		0.478	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		G	112458491	T	G	112458491	3	3	52	1	0	0	0	0	1	0	0	0	9375	1783	62	5	2198	5	MCC	5	112458491	Missense_Mutation	SNP	T	TCGA-A3-3362-01A-02D-1386-10	16107738	112458491	68456769	20	3817											
YTHDC2	64848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112899071	112899071	+	Splice_Site	SNP	A	A	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr5:112899071A>T	ENST00000161863.4	+	19	2537	c.2324A>T	c.(2323-2325)gAa>gTa	p.E775V		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	775	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.E775V(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGTTTATAGGAACTTTGCTTA	0.328																																																1	Substitution - Missense(1)	kidney(1)											49	46	47					5																	112899071		2201	4300	6501	SO:0001630	splice_region_variant	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2323-1A>T	5.37:g.112899071A>T			B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546033	0.65198	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.47177	0.85	5.47	4.28	0.50868	Helicase, C-terminal (1);	0.049336	0.85682	D	0.000000	T	0.58424	0.2121	M	0.87547	2.89	0.80722	D	1	P	0.47604	0.898	P	0.46362	0.514	T	0.64626	-0.6363	10	0.59425	D	0.04	.	11.6948	0.51538	0.8673:0.0:0.0:0.1326	.	775	Q9H6S0	YTDC2_HUMAN	V	775;685	ENSP00000161863:E775V	ENSP00000161863:E775V	E	+	2	0	YTHDC2	112926970	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	8.573000	0.90759	0.878000	0.35920	0.528000	0.53228	GAA		0.328	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	Missense_Mutation	T	112899071	A	T	112899071	5	4	52	1	0	0	0	0	0	0	1	0	17502	260	9	5	2398	5	YTHDC2	5	112899071	Splice_Site	SNP	A	TCGA-A3-3362-01A-02D-1386-10	440580	112899071	68016189	21	3818											
SKIV2L	6499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	31928300	31928300	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr6:31928300C>T	ENST00000375394.2	+	5	559	c.446C>T	c.(445-447)cCa>cTa	p.P149L	NELFE_ENST00000375425.5_5'Flank|SKIV2L_ENST00000544581.1_Intron|SKIV2L_ENST00000488648.1_3'UTR|NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000444811.2_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	149					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.P149L(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGGGGAAATCCAACTCAGTAT	0.532																																																1	Substitution - Missense(1)	kidney(1)											97	105	102					6																	31928300		2203	4300	6503	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.446C>T	6.37:g.31928300C>T	ENSP00000364543:p.Pro149Leu		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630056	0.67015	.	.	ENSG00000204351	ENST00000375394	T	0.41758	0.99	5.14	5.14	0.70334	.	0.124468	0.52532	D	0.000077	T	0.24198	0.0586	L	0.50333	1.59	0.80722	D	1	P	0.39480	0.675	B	0.29077	0.098	T	0.19128	-1.0315	10	0.54805	T	0.06	-11.0889	17.398	0.87451	0.0:1.0:0.0:0.0	.	149	Q15477	SKIV2_HUMAN	L	149	ENSP00000364543:P149L	ENSP00000364543:P149L	P	+	2	0	SKIV2L	32036279	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	2.720000	0.47252	2.412000	0.81896	0.655000	0.94253	CCA		0.532	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			T	31928300	C	T	31928300	3	4	52	1	0	0	0	0	1	0	0	0	14365	594	21	2	464	2	SKIV2L	6	31928300	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10		31928300	139186767	22	3819											
MCM3	4172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	52129392	52129392	+	Silent	SNP	G	G	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr6:52129392G>A	ENST00000229854.7	-	17	2497	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	MCM3_ENST00000596288.1_Silent_p.L852L|MCM3_ENST00000419835.2_Silent_p.L761L			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	807					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.L807L(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CTCCTCAGATGAGGAAGATGA	0.532																																																1	Substitution - coding silent(1)	kidney(1)											160	134	143					6																	52129392		2203	4300	6503	SO:0001819	synonymous_variant	4172			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2421C>T	6.37:g.52129392G>A			B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37																																																																																					0.532	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			A	52129392	G	A	52129392	2	1	52	1	0	0	0	0	0	0	0	1	9389	1277	45	2		2	MCM3	6	52129392	Silent	SNP	G	TCGA-A3-3362-01A-02D-1386-10	20201092	52129392	118985675	23	3820											
C7orf46	340277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23728936	23728936	+	Silent	SNP	C	C	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr7:23728936C>T	ENST00000344962.4	+	3	377	c.288C>T	c.(286-288)ccC>ccT	p.P96P	FAM221A_ENST00000409994.3_Silent_p.P38P|FAM221A_ENST00000409192.3_Silent_p.P96P|FAM221A_ENST00000409653.1_Silent_p.P38P	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	96								p.P96P(1)									AGCAGTGCCCCATTGATCTGC	0.448																																																1	Substitution - coding silent(1)	kidney(1)											89	84	85					7																	23728936		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 46"	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.288C>T	7.37:g.23728936C>T			Q05CG4|Q4G0Q7|Q6P519	Silent	SNP	ENST00000344962.4	37	CCDS5385.1																																																																																				0.448	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		T	23728936	C	T	23728936	2	4	52	1	0	0	0	0	0	0	0	1	2398	581	21	2		2	C7orf46	7	23728936	Silent	SNP	C	TCGA-A3-3362-01A-02D-1386-10		23728936	135409727	24	3821											
SPDYE6	0	broad.mit.edu	37	7	101991206	101991206	+	IGR	SNP	G	G	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr7:101991206G>A								Y_RNA (13824 upstream) : PRKRIP1 (13137 downstream)																							ATTGCCAGGAGGGGAAGCCAG	0.532																																																0																																										SO:0001628	intergenic_variant	729597																															7.37:g.101991206G>A				Silent	SNP		37																																																																																				0	0.532									A	101991206	G	A	101991206	1	1	52	0	1	0	0	0	0	0	0	0	15038	987	35	2		2	SPDYE6	7	101991206	IGR	SNP	G	TCGA-A3-3362-01A-02D-1386-10	78262270	101991206	57147457	25	3822											
POT1	25913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	124487019	124487019	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr7:124487019C>A	ENST00000357628.3	-	12	1581	c.983G>T	c.(982-984)aGa>aTa	p.R328I	POT1_ENST00000393329.1_Missense_Mutation_p.R197I	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	328					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.R328I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CTGTTGACATCTTTCTACCTC	0.353																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											2	Substitution - Missense(2)	kidney(2)											144	125	132					7																	124487019		2203	4300	6503	SO:0001583	missense	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.983G>T	7.37:g.124487019C>A	ENSP00000350249:p.Arg328Ile		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722035	0.89298	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	T;T	0.51071	0.72;0.72	5.5	5.5	0.81552	.	0.286036	0.39615	N	0.001315	T	0.65144	0.2663	L	0.55481	1.735	0.58432	D	0.999997	D	0.76494	0.999	D	0.85130	0.997	T	0.66044	-0.6021	10	0.72032	D	0.01	-30.0673	16.467	0.84081	0.0:1.0:0.0:0.0	.	328	Q9NUX5	POTE1_HUMAN	I	328;197;328;328;327	ENSP00000350249:R328I;ENSP00000377002:R197I	ENSP00000265391:R327I	R	-	2	0	POT1	124274255	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.077000	0.57598	2.729000	0.93468	0.561000	0.74099	AGA		0.353	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			A	124487019	C	A	124487019	3	1	52	1	0	0	0	0	1	0	0	0	12262	913	32	4	953	4	POT1	7	124487019	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10	22495813	124487019	34651644	26	3823											
UHRF2	115426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	6420988	6420988	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr9:6420988C>G	ENST00000276893.5	+	2	398	c.230C>G	c.(229-231)cCt>cGt	p.P77R	UHRF2_ENST00000381373.3_Missense_Mutation_p.P77R|RP11-307L3.4_ENST00000411561.1_RNA	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	77	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P77R(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CGCCCAGACCCTGATCATCTT	0.398																																																1	Substitution - Missense(1)	kidney(1)											139	129	133					9																	6420988		2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.230C>G	9.37:g.6420988C>G	ENSP00000276893:p.Pro77Arg		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671129	0.47781	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	T;T	0.42900	0.96;0.96	5.55	4.66	0.58398	.	0.325583	0.34338	N	0.004059	T	0.43166	0.1235	M	0.61703	1.905	0.32357	N	0.557726	B	0.16166	0.016	B	0.16722	0.016	T	0.54077	-0.8347	10	0.56958	D	0.05	-0.4419	14.6268	0.68626	0.0:0.9298:0.0:0.0702	.	77	Q96PU4	UHRF2_HUMAN	R	77	ENSP00000276893:P77R;ENSP00000370778:P77R	ENSP00000276893:P77R	P	+	2	0	UHRF2	6410988	0.998000	0.40836	0.990000	0.47175	0.980000	0.70556	4.998000	0.63927	1.345000	0.45676	-0.444000	0.05651	CCT		0.398	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		G	6420988	C	G	6420988	3	3	52	1	0	0	0	0	1	0	0	0	16975	681	24	4	236	4	UHRF2	9	6420988	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10		6420988	134792443	27	3824											
TLN1	7094	broad.mit.edu;ucsc.edu	37	9	35704041	35704041	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr9:35704041C>T	ENST00000314888.9	-	46	6531	c.6178G>A	c.(6178-6180)Gat>Aat	p.D2060N	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Missense_Mutation_p.D1954N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2060					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.D2060N(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGACCACATCAGCGAGGCGG	0.632																																																1	Substitution - Missense(1)	kidney(1)											48	49	48					9																	35704041		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6178G>A	9.37:g.35704041C>T	ENSP00000316029:p.Asp2060Asn		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924478	0.92319	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.14266	2.52;2.52	5.41	5.41	0.78517	.	0.203341	0.51477	D	0.000092	T	0.20941	0.0504	M	0.64170	1.965	0.80722	D	1	B	0.25235	0.121	B	0.28638	0.092	T	0.01956	-1.1240	10	0.46703	T	0.11	-15.7874	19.2006	0.93711	0.0:1.0:0.0:0.0	.	2060	Q9Y490	TLN1_HUMAN	N	2060;1954	ENSP00000316029:D2060N;ENSP00000442981:D1954N	ENSP00000316029:D2060N	D	-	1	0	TLN1	35694041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.551000	0.86045	0.561000	0.74099	GAT		0.632	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		T	35704041	C	T	35704041	3	4	52	1	0	0	0	0	1	0	0	0	15952	826	29	2	1495	2	TLN1	9	35704041	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10	29283053	35704041	105509390	28	3825											
CNTNAP3	79937	hgsc.bcm.edu	37	9	39103777	39103777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr9:39103777delG	ENST00000297668.6	-	16	2573	c.2500delC	c.(2500-2502)ctgfs	p.L834fs	CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.L833fs|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.L746fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	834	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGATCCCCAGGTTCTCCATA	0.463																																																0													44	49	47					9																	39103777		2203	4300	6503	SO:0001589	frameshift_variant	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2500delC	9.37:g.39103777delG	ENSP00000297668:p.Leu834fs		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	ENST00000297668.6	37	CCDS6616.1																																																																																				0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		-	39103777	G	-	39103777	7	5	52	1	0	1	0	1	0	0	0	0	3650	991	35	0	1402	0	CNTNAP3	9	39103777	Frame_Shift_Del	DEL	G	TCGA-A3-3362-01A-02D-1386-10	3399736	39103777	102109654	29	3826											
ZNF483	158399	hgsc.bcm.edu;ucsc.edu	37	9	114305026	114305026	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr9:114305026delA	ENST00000309235.5	+	6	1969	c.1811delA	c.(1810-1812)gaafs	p.E604fs	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CACACTGGAGAAAAACCATAT	0.383																																																0													57	60	59					9																	114305026		2203	4300	6503	SO:0001589	frameshift_variant	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1811delA	9.37:g.114305026delA	ENSP00000311679:p.Glu604fs		Q5VZN2|Q8NAE1	Frame_Shift_Del	DEL	ENST00000309235.5	37	CCDS35106.1																																																																																				0.383	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		-	114305026	A	-	114305026	7	5	52	1	0	1	0	1	0	0	0	0	17941	246	9	0	1829	0	ZNF483	9	114305026	Frame_Shift_Del	DEL	A	TCGA-A3-3362-01A-02D-1386-10	75201249	114305026	26908405	30	3827											
DDX50	79009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70670871	70670871	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr10:70670871C>G	ENST00000373585.3	+	4	615	c.508C>G	c.(508-510)Cct>Gct	p.P170A	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	170	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.P170A(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GACCTTTGGTCCTGTATATGA	0.353																																																1	Substitution - Missense(1)	kidney(1)											134	139	137					10																	70670871		2203	4300	6503	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.508C>G	10.37:g.70670871C>G	ENSP00000362687:p.Pro170Ala		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	9.850	1.193535	0.22037	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.13420	2.59	5.22	5.22	0.72569	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.204155	0.52532	D	0.000066	T	0.08714	0.0216	N	0.13299	0.325	0.33063	D	0.534341	B;B	0.20368	0.044;0.024	B;B	0.20577	0.03;0.027	T	0.15723	-1.0427	10	0.15952	T	0.53	-10.6962	14.0909	0.64990	0.1506:0.8494:0.0:0.0	.	170;170	Q9BQ39;B4DED6	DDX50_HUMAN;.	A	170	ENSP00000362687:P170A	ENSP00000362687:P170A	P	+	1	0	DDX50	70340877	0.031000	0.19500	0.997000	0.53966	0.997000	0.91878	1.307000	0.33516	2.598000	0.87819	0.485000	0.47835	CCT		0.353	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		G	70670871	C	G	70670871	3	3	52	1	0	0	0	0	1	0	0	0	4370	855	30	4	522	4	DDX50	10	70670871	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10		70670871	64863876	31	3828											
NKX2-3	159296	broad.mit.edu	37	10	101294877	101294877	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr10:101294877G>A	ENST00000344586.7	+	2	693	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_145285.2	NP_660328.2	Q8TAU0	NKX23_HUMAN	NK2 homeobox 3	165					CD4-positive, alpha-beta T cell differentiation (GO:0043367)|gland morphogenesis (GO:0022612)|leukocyte homeostasis (GO:0001776)|leukocyte migration (GO:0050900)|lymph node development (GO:0048535)|macrophage differentiation (GO:0030225)|odontogenesis of dentin-containing tooth (GO:0042475)|Peyer's patch development (GO:0048541)|plasma cell differentiation (GO:0002317)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic digestive tract morphogenesis (GO:0048621)|regulation of cell proliferation (GO:0042127)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)|triglyceride metabolic process (GO:0006641)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R165H(1)		endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		GAGCTGGAACGCAGGTTCAAG	0.642																																					Pancreas(173;2021 2035 19403 19989 27291)											1	Substitution - Missense(1)	kidney(1)											17	20	19					10																	101294877		2155	4279	6434	SO:0001583	missense	159296				CCDS41558.1	10q24.2	2013-09-20	2011-06-01	2002-10-04	ENSG00000119919	ENSG00000119919		"Homeoboxes / ANTP class : NKL subclass"	7836	protein-coding gene	gene with protein product		606727	"NK-2 (Drosophila) homolog C", "NK2 transcription factor related, locus 3 (Drosophila)"	NKX2C		1346742, 9142493	Standard	NM_145285		Approved	NKX2.3, CSX3, NKX4-3	uc009xwj.3	Q8TAU0	OTTHUMG00000018887	ENST00000344586.7:c.494G>A	10.37:g.101294877G>A	ENSP00000342828:p.Arg165His		B4DUZ4|Q9NYS6	Missense_Mutation	SNP	ENST00000344586.7	37	CCDS41558.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663064	0.96745	.	.	ENSG00000119919	ENST00000344586	D	0.96459	-4.02	5.45	5.45	0.79879	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98561	1.0641	10	0.87932	D	0	.	18.8868	0.92381	0.0:0.0:1.0:0.0	.	165	Q8TAU0	NKX23_HUMAN	H	165	ENSP00000342828:R165H	ENSP00000342828:R165H	R	+	2	0	NKX2-3	101284867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.964000	0.87933	2.545000	0.85829	0.561000	0.74099	CGC		0.642	NKX2-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049808.2			A	101294877	G	A	101294877	3	1	52	1	0	0	0	0	1	0	0	0	10453	1087	38	1	500	1	NKX2-3	10	101294877	Missense_Mutation	SNP	G	TCGA-A3-3362-01A-02D-1386-10	30624006	101294877	34239870	32	3829											
FZD4	8322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	86662562	86662562	+	Silent	SNP	G	G	C			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr11:86662562G>C	ENST00000531380.1	-	2	1541	c.1236C>G	c.(1234-1236)gcC>gcG	p.A412A	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	412					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A412A(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTGAACAAGGCCACCAAAC	0.448																																																1	Substitution - coding silent(1)	kidney(1)											141	131	134					11																	86662562		2201	4299	6500	SO:0001819	synonymous_variant	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1236C>G	11.37:g.86662562G>C			A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	CCDS8279.1																																																																																				0.448	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		C	86662562	G	C	86662562	2	2	52	1	0	0	0	0	0	0	0	1	6134	987	35	4		4	FZD4	11	86662562	Silent	SNP	G	TCGA-A3-3362-01A-02D-1386-10		86662562	48343954	33	3830											
CAPRIN2	65981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	30868061	30868061	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr12:30868061C>T	ENST00000298892.5	-	14	3082	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.D494N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D827N|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.D828N	NM_023925.3	NP_076414.2			caprin family member 2									p.D828N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATAGTTCCATCAGGATGATAA	0.373																																																1	Substitution - Missense(1)	kidney(1)											130	124	126					12																	30868061		2203	4300	6503	SO:0001583	missense	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2332G>A	12.37:g.30868061C>T	ENSP00000298892:p.Asp778Asn			Missense_Mutation	SNP	ENST00000298892.5	37	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695827	0.88830	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.54	5.54	0.83059	.	0.252414	0.39985	N	0.001202	T	0.46870	0.1415	L	0.57536	1.79	0.40733	D	0.982762	D;D;P;D	0.60575	0.988;0.984;0.893;0.959	P;P;B;P	0.60236	0.871;0.834;0.415;0.652	T	0.44190	-0.9344	10	0.72032	D	0.01	-19.5742	19.4949	0.95069	0.0:1.0:0.0:0.0	.	827;828;778;827	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	N	573;778;828;494;827	ENSP00000415407:D573N;ENSP00000298892:D778N;ENSP00000251071:D828N;ENSP00000309785:D494N;ENSP00000391479:D827N	ENSP00000251071:D828N	D	-	1	0	CAPRIN2	30759328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.044000	0.49830	2.601000	0.87937	0.655000	0.94253	GAT		0.373	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925		T	30868061	C	T	30868061	3	4	52	1	0	0	0	0	1	0	0	0	2638	826	29	2	917	2	CAPRIN2	12	30868061	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10		30868061	102983834	34	3831											
ACVR1B	91	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52374878	52374878	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr12:52374878T>C	ENST00000257963.4	+	4	783	c.706T>C	c.(706-708)Ttc>Ctc	p.F236L	ACVR1B_ENST00000415850.2_Missense_Mutation_p.F236L|ACVR1B_ENST00000541224.1_Missense_Mutation_p.F236L|ACVR1B_ENST00000426655.2_Missense_Mutation_p.F236L|ACVR1B_ENST00000542485.1_Missense_Mutation_p.F184L	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.F236L(2)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGTGAAAATATTCTCTTCTCG	0.502											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(2)											103	100	101					12																	52374878		2203	4300	6503	SO:0001583	missense	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.706T>C	12.37:g.52374878T>C	ENSP00000257963:p.Phe236Leu	984	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	T	33	5.209465	0.95069	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94318	0.8174	L	0.47190	1.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.998;0.999	D	0.95009	0.8150	10	0.87932	D	0	.	15.0788	0.72099	0.0:0.0:0.0:1.0	.	236;236;236;236	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	L	236;236;236;236;184	ENSP00000257963:F236L;ENSP00000442656:F236L;ENSP00000390477:F236L;ENSP00000397550:F236L;ENSP00000442885:F184L	ENSP00000257963:F236L	F	+	1	0	ACVR1B	50661145	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	8.040000	0.89188	2.031000	0.59945	0.533000	0.62120	TTC		0.502	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		C	52374878	T	C	52374878	3	2	52	1	0	0	0	0	1	0	0	0	221	1493	52	3	720	3	ACVR1B	12	52374878	Missense_Mutation	SNP	T	TCGA-A3-3362-01A-02D-1386-10	21506817	52374878	81477017	35	3832											
OR10A7	121364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55614840	55614840	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr12:55614840A>T	ENST00000326258.1	+	1	32	c.32A>T	c.(31-33)gAa>gTa	p.E11V		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E11V(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AGAGTCACTGAATTTATTCTT	0.343																																																1	Substitution - Missense(1)	kidney(1)											157	165	162					12																	55614840		2203	4300	6503	SO:0001583	missense	121364			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.32A>T	12.37:g.55614840A>T	ENSP00000326718:p.Glu11Val		Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	a	15.38	2.815157	0.50527	.	.	ENSG00000179919	ENST00000326258	T	0.01139	5.28	2.91	2.91	0.33838	.	0.000000	0.42420	D	0.000702	T	0.04227	0.0117	M	0.85041	2.73	0.35410	D	0.792375	P	0.51449	0.945	P	0.54238	0.746	T	0.09596	-1.0667	10	0.87932	D	0	.	6.8605	0.24064	0.8872:0.0:0.1128:0.0	.	11	Q8NGE5	O10A7_HUMAN	V	11	ENSP00000326718:E11V	ENSP00000326718:E11V	E	+	2	0	OR10A7	53901107	0.067000	0.21026	0.979000	0.43373	0.944000	0.59088	1.625000	0.37029	1.581000	0.49865	0.519000	0.50382	GAA		0.343	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			T	55614840	A	T	55614840	3	4	52	1	0	0	0	0	1	0	0	0	10897	246	9	5	34	5	OR10A7	12	55614840	Missense_Mutation	SNP	A	TCGA-A3-3362-01A-02D-1386-10	3239962	55614840	78237055	36	3833											
R3HDM2	22864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57648628	57648628	+	Silent	SNP	C	C	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr12:57648628C>G	ENST00000347140.3	-	24	3249	c.2859G>C	c.(2857-2859)gtG>gtC	p.V953V	R3HDM2_ENST00000441731.2_Silent_p.V648V|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000358907.2_Silent_p.V953V|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Silent_p.V987V|R3HDM2_ENST00000402412.1_Silent_p.V967V			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	953						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V614V(1)|p.V953V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGAAGCGACTCACGGAGTTGT	0.562																																																2	Substitution - coding silent(2)	kidney(2)											83	77	79					12																	57648628		2203	4300	6503	SO:0001819	synonymous_variant	22864			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2859G>C	12.37:g.57648628C>G			Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	CCDS8937.2																																																																																				0.562	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		G	57648628	C	G	57648628	2	3	52	1	0	0	0	0	0	0	0	1	12894	813	29	4		4	R3HDM2	12	57648628	Silent	SNP	C	TCGA-A3-3362-01A-02D-1386-10	2033788	57648628	76203267	37	3834											
SLC5A8	160728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	101584327	101584327	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr12:101584327A>G	ENST00000536262.2	-	6	1310	c.752T>C	c.(751-753)tTc>tCc	p.F251S		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.F251S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGTCCATGTGAAGGTCCCTCC	0.398																																					GBM(60;420 1056 13605 22380 47675)											1	Substitution - Missense(1)	kidney(1)											138	133	135					12																	101584327		2203	4300	6503	SO:0001583	missense	160728			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.752T>C	12.37:g.101584327A>G	ENSP00000445340:p.Phe251Ser			Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.368123	0.82463	.	.	ENSG00000256870	ENST00000536262	D	0.87887	-2.31	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.93051	0.7788	M	0.74546	2.27	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	D	0.93750	0.7058	10	0.87932	D	0	.	16.2405	0.82405	1.0:0.0:0.0:0.0	.	251	Q8N695	SC5A8_HUMAN	S	251	ENSP00000445340:F251S	ENSP00000445340:F251S	F	-	2	0	SLC5A8	100108458	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	8.932000	0.92897	2.238000	0.73509	0.477000	0.44152	TTC		0.398	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		G	101584327	A	G	101584327	3	3	52	1	0	0	0	0	1	0	0	0	14677	246	9	3	1120	3	SLC5A8	12	101584327	Missense_Mutation	SNP	A	TCGA-A3-3362-01A-02D-1386-10	43935699	101584327	32267568	38	3835											
TMEM55B	90809	broad.mit.edu	37	14	20927414	20927414	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr14:20927414C>A	ENST00000250489.4	-	6	927	c.641G>T	c.(640-642)tGc>tTc	p.C214F	TMEM55B_ENST00000554028.1_Missense_Mutation_p.C47F|TMEM55B_ENST00000398020.4_Missense_Mutation_p.C221F			Q86T03	TM55B_HUMAN	transmembrane protein 55B	214						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.C214F(2)		endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CAAGAAGCAGCAGATACATCT	0.498																																																2	Substitution - Missense(2)	endometrium(1)|kidney(1)											163	154	157					14																	20927414		2203	4300	6503	SO:0001583	missense	90809			BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"chromosome 14 open reading frame 9"	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.641G>T	14.37:g.20927414C>A	ENSP00000250489:p.Cys214Phe		B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	ENST00000250489.4	37	CCDS9551.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306273	0.40795	.	.	ENSG00000165782	ENST00000250489;ENST00000398020;ENST00000554028	.	.	.	5.06	5.06	0.68205	.	0.053239	0.85682	D	0.000000	T	0.35856	0.0946	N	0.11927	0.2	0.42188	D	0.991717	B;B	0.33413	0.411;0.358	B;B	0.28991	0.097;0.059	T	0.32052	-0.9921	9	0.42905	T	0.14	-4.8273	17.2077	0.86922	0.0:1.0:0.0:0.0	.	214;221	Q86T03;Q86T03-2	TM55B_HUMAN;.	F	214;221;47	.	ENSP00000250489:C214F	C	-	2	0	TMEM55B	19997254	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.708000	0.37899	2.351000	0.79841	0.655000	0.94253	TGC		0.498	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3	NM_144568		A	20927414	C	A	20927414	3	1	52	1	0	0	0	0	1	0	0	0	16187	710	25	4	200	4	TMEM55B	14	20927414	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10		20927414	86422126	39	3836											
AHNAK2	113146	broad.mit.edu	37	14	105413709	105413709	+	Silent	SNP	G	G	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr14:105413709G>T	ENST00000333244.5	-	7	8198	c.8079C>A	c.(8077-8079)acC>acA	p.T2693T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2693						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.T2693T(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGATGTCAGTGGTCTTAAGGT	0.632																																																1	Substitution - coding silent(1)	kidney(1)											157	172	167					14																	105413709		2013	4182	6195	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8079C>A	14.37:g.105413709G>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105413709	G	T	105413709	2	4	52	1	0	0	0	0	0	0	0	1	415	1335	47	4		4	AHNAK2	14	105413709	Silent	SNP	G	TCGA-A3-3362-01A-02D-1386-10	84486295	105413709	1935831	40	3837											
CTDSPL2	51496	broad.mit.edu;ucsc.edu	37	15	44776439	44776439	+	Silent	SNP	T	T	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr15:44776439T>G	ENST00000260327.4	+	3	767	c.204T>G	c.(202-204)ccT>ccG	p.P68P	CTDSPL2_ENST00000396780.1_Silent_p.P68P|CTDSPL2_ENST00000558373.1_Silent_p.P68P|CTDSPL2_ENST00000558966.1_Silent_p.P68P	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	68							phosphoprotein phosphatase activity (GO:0004721)	p.P68P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GAGAAAATCCTTCAAAACGGA	0.333																																																1	Substitution - coding silent(1)	kidney(1)											74	68	70					15																	44776439		2198	4298	6496	SO:0001819	synonymous_variant	51496			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.204T>G	15.37:g.44776439T>G			Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Silent	SNP	ENST00000260327.4	37	CCDS10110.1																																																																																				0.333	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		G	44776439	T	G	44776439	2	3	52	1	0	0	0	0	0	0	0	1	4008	1596	56	5		5	CTDSPL2	15	44776439	Silent	SNP	T	TCGA-A3-3362-01A-02D-1386-10		44776439	57754953	41	3838											
AKAP13	11214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	86279333	86279333	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr15:86279333A>T	ENST00000394518.2	+	33	7620	c.7525A>T	c.(7525-7527)Aac>Tac	p.N2509Y	AKAP13_ENST00000394510.2_Missense_Mutation_p.N754Y|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.N2513Y	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2509	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.N2513Y(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGGAAATGCTAACCTGGTATT	0.299																																					Melanoma(94;603 1453 3280 32295 32951)											1	Substitution - Missense(1)	kidney(1)											119	116	117					15																	86279333		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7525A>T	15.37:g.86279333A>T	ENSP00000378026:p.Asn2509Tyr		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580672	0.65992	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.22539	1.95;1.95;1.95	5.75	5.75	0.90469	.	.	.	.	.	T	0.45175	0.1329	M	0.76574	2.34	0.51012	D	0.999902	D;D	0.76494	0.999;0.993	D;D	0.65573	0.936;0.911	T	0.44283	-0.9338	9	0.66056	D	0.02	.	13.8117	0.63268	1.0:0.0:0.0:0.0	.	2509;2513	Q12802;Q12802-2	AKP13_HUMAN;.	Y	2513;2509;2512;2488;754	ENSP00000354718:N2513Y;ENSP00000378026:N2509Y;ENSP00000378018:N754Y	ENSP00000354718:N2513Y	N	+	1	0	AKAP13	84080337	1.000000	0.71417	0.993000	0.49108	0.406000	0.30931	6.822000	0.75277	2.194000	0.70268	0.533000	0.62120	AAC		0.299	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		T	86279333	A	T	86279333	3	4	52	1	0	0	0	0	1	0	0	0	449	362	13	5	7721	5	AKAP13	15	86279333	Missense_Mutation	SNP	A	TCGA-A3-3362-01A-02D-1386-10	41502894	86279333	16252059	42	3839											
PAQR4	124222	broad.mit.edu	37	16	3021699	3021699	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr16:3021699G>T	ENST00000318782.8	+	3	1002	c.572G>T	c.(571-573)cGg>cTg	p.R191L	PAQR4_ENST00000576565.1_Missense_Mutation_p.R124L|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000574988.1_Missense_Mutation_p.R124L|PAQR4_ENST00000293978.8_Missense_Mutation_p.R152L|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000572687.1_Missense_Mutation_p.R117L	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	191						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R191L(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						TTTGGGGCCCGGGGAGTGGGT	0.682																																																1	Substitution - Missense(1)	kidney(1)											31	37	35					16																	3021699		2198	4297	6495	SO:0001583	missense	124222				CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.572G>T	16.37:g.3021699G>T	ENSP00000321804:p.Arg191Leu		A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	g	16.31	3.086383	0.55861	.	.	ENSG00000162073	ENST00000318782;ENST00000293978	T	0.25749	1.78	5.09	3.1	0.35709	.	0.129612	0.52532	D	0.000070	T	0.42086	0.1187	M	0.79123	2.44	0.80722	D	1	D;D;D	0.76494	0.999;0.966;0.989	D;P;D	0.66196	0.939;0.656;0.942	T	0.45483	-0.9258	10	0.10902	T	0.67	-21.6174	8.6467	0.34009	0.0856:0.1533:0.7611:0.0	.	116;152;191	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	L	191;117	ENSP00000321804:R191L	ENSP00000293978:R117L	R	+	2	0	PAQR4	2961700	1.000000	0.71417	0.989000	0.46669	0.792000	0.44763	5.974000	0.70465	0.528000	0.28580	0.457000	0.33378	CGG		0.682	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		T	3021699	G	T	3021699	3	4	52	1	0	0	0	0	1	0	0	0	11439	1116	39	4	582	4	PAQR4	16	3021699	Missense_Mutation	SNP	G	TCGA-A3-3362-01A-02D-1386-10		3021699	87333054	43	3840											
C17orf53	78995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42225574	42225574	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr17:42225574C>T	ENST00000319977.4	+	3	640	c.403C>T	c.(403-405)Cac>Tac	p.H135Y	C17orf53_ENST00000245382.6_Missense_Mutation_p.H135Y|C17orf53_ENST00000585683.1_Missense_Mutation_p.H135Y	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	135								p.H135Y(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTCAGCCTTACACCCCCTACT	0.512																																																1	Substitution - Missense(1)	kidney(1)											139	147	144					17																	42225574		2203	4300	6503	SO:0001583	missense	78995			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.403C>T	17.37:g.42225574C>T	ENSP00000313500:p.His135Tyr		A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	c	12.35	1.911512	0.33721	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.44482	0.92;0.92	5.02	0.79	0.18613	.	1.081740	0.07028	N	0.827991	T	0.38558	0.1045	L	0.55481	1.735	0.09310	N	1	P;P;P	0.52316	0.867;0.681;0.952	B;B;B	0.44044	0.439;0.372;0.439	T	0.26258	-1.0108	10	0.45353	T	0.12	0.3949	4.8113	0.13345	0.0:0.4618:0.2923:0.2459	.	135;135;135	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	Y	135	ENSP00000313500:H135Y;ENSP00000245382:H135Y	ENSP00000245382:H135Y	H	+	1	0	C17orf53	39581100	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.769000	0.04710	0.047000	0.15862	-0.927000	0.02713	CAC		0.512	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		T	42225574	C	T	42225574	3	4	52	1	0	0	0	0	1	0	0	0	1864	478	17	2	413	2	C17orf53	17	42225574	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10		42225574	38969636	44	3841											
C17orf80	55028	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	71232490	71232490	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr17:71232490T>G	ENST00000535032.2	+	2	982	c.869T>G	c.(868-870)aTc>aGc	p.I290S	FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.I290S|C17orf80_ENST00000577615.1_Missense_Mutation_p.I290S|C17orf80_ENST00000359042.2_Missense_Mutation_p.I290S|C17orf80_ENST00000255557.4_Missense_Mutation_p.I290S|C17orf80_ENST00000268942.8_Missense_Mutation_p.I290S			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	290						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.I290S(1)		kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TTAGGTAAAATCCAAGTCATG	0.428																																																1	Substitution - Missense(1)	kidney(1)											53	52	53					17																	71232490		2203	4300	6503	SO:0001583	missense	55028			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.869T>G	17.37:g.71232490T>G	ENSP00000440551:p.Ile290Ser		A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.439735	0.43326	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	D;T;D;D;T	0.83837	-1.77;2.49;-1.77;-1.77;2.49	5.11	-1.06	0.10002	.	1.226200	0.05710	N	0.595769	T	0.70159	0.3192	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.29988	0.264;0.264;0.138;0.169	B;B;B;B	0.24701	0.055;0.055;0.033;0.046	T	0.52003	-0.8633	10	0.14656	T	0.56	-1.1251	5.0176	0.14345	0.0:0.4175:0.1754:0.4071	.	290;290;290;290	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	S	290	ENSP00000255557:I290S;ENSP00000351937:I290S;ENSP00000268942:I290S;ENSP00000396970:I290S;ENSP00000440551:I290S	ENSP00000255557:I290S	I	+	2	0	C17orf80	68744085	0.000000	0.05858	0.000000	0.03702	0.863000	0.49368	-1.067000	0.03451	-0.002000	0.14469	0.459000	0.35465	ATC		0.428	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		G	71232490	T	G	71232490	3	3	52	1	0	0	0	0	1	0	0	0	1887	1435	50	5	871	5	C17orf80	17	71232490	Missense_Mutation	SNP	T	TCGA-A3-3362-01A-02D-1386-10	29006916	71232490	9962720	45	3842											
OR10H4	126541	hgsc.bcm.edu;ucsc.edu	37	19	16060085	16060085	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr19:16060085C>A	ENST00000322107.1	+	1	268	c.268C>A	c.(268-270)Cat>Aat	p.H90N		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTTTCCACCCATCATTCCAT	0.517																																																0													500	439	459					19																	16060085		2203	4300	6503	SO:0001583	missense	126541			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.268C>A	19.37:g.16060085C>A	ENSP00000318834:p.His90Asn		Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.747865	0.00086	.	.	ENSG00000176231	ENST00000322107	T	0.05580	3.42	1.53	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.349418	0.20614	U	0.088906	T	0.02342	0.0072	N	0.03967	-0.31	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46582	-0.9181	10	0.21014	T	0.42	.	5.7094	0.17927	0.0:0.6545:0.3455:0.0	.	90	Q8NGA5	O10H4_HUMAN	N	90	ENSP00000318834:H90N	ENSP00000318834:H90N	H	+	1	0	OR10H4	15921085	0.000000	0.05858	0.051000	0.19133	0.072000	0.16883	-1.768000	0.01794	0.828000	0.34709	0.471000	0.43371	CAT		0.517	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			A	16060085	C	A	16060085	3	1	52	1	0	0	0	0	1	0	0	0	10910	594	21	4	270	4	OR10H4	19	16060085	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10		16060085	43068898	46	3843											
ZNF91	7644	broad.mit.edu	37	19	23543539	23543539	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr19:23543539C>A	ENST00000300619.7	-	4	2447	c.2242G>T	c.(2242-2244)Ggc>Tgc	p.G748C	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.G716C|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	748					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G748C(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AATGCTTTGCCACATTCTTCA	0.333																																																1	Substitution - Missense(1)	kidney(1)											26	29	28					19																	23543539		2102	4243	6345	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2242G>T	19.37:g.23543539C>A	ENSP00000300619:p.Gly748Cys		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646611	0.47258	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.58797	0.31;0.31	1.71	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81894	0.4919	H	0.97516	4.02	0.39543	D	0.968851	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.927	D	0.85642	0.1277	9	0.87932	D	0	.	10.3697	0.44046	0.0:1.0:0.0:0.0	.	716;748	Q05481-2;Q05481	.;ZNF91_HUMAN	C	748;716	ENSP00000300619:G748C;ENSP00000380272:G716C	ENSP00000300619:G748C	G	-	1	0	ZNF91	23335379	0.656000	0.27385	0.074000	0.20217	0.213000	0.24496	1.015000	0.29963	0.921000	0.36994	0.205000	0.17691	GGC		0.333	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		A	23543539	C	A	23543539	3	1	52	1	0	0	0	0	1	0	0	0	18205	594	21	4	1337	4	ZNF91	19	23543539	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10	7483454	23543539	35585444	47	3844											
GYS1	2997	broad.mit.edu;ucsc.edu	37	19	49477487	49477487	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr19:49477487G>C	ENST00000323798.3	-	12	1728	c.1532C>G	c.(1531-1533)cCt>cGt	p.P511R	GYS1_ENST00000544287.1_Missense_Mutation_p.P144R|GYS1_ENST00000263276.6_Missense_Mutation_p.P447R|GYS1_ENST00000541188.1_Missense_Mutation_p.P431R	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	511					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)	p.P511R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GTAGCCCCAAGGCTCATAGTA	0.602																																																1	Substitution - Missense(1)	kidney(1)											39	31	33					19																	49477487		2203	4300	6503	SO:0001583	missense	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1532C>G	19.37:g.49477487G>C	ENSP00000317904:p.Pro511Arg		Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401309	0.83120	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.89241	0.6659	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91773	0.5429	10	0.87932	D	0	-11.6716	16.2011	0.82078	0.0:0.0:1.0:0.0	.	431;447;511	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	R	511;447;431;144	ENSP00000317904:P511R;ENSP00000263276:P447R;ENSP00000437922:P431R;ENSP00000444004:P144R	ENSP00000263276:P447R	P	-	2	0	GYS1	54169299	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.650000	0.98490	2.491000	0.84063	0.561000	0.74099	CCT		0.602	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		C	49477487	G	C	49477487	3	2	52	1	0	0	0	0	1	0	0	0	6914	1000	35	4	701	4	GYS1	19	49477487	Missense_Mutation	SNP	G	TCGA-A3-3362-01A-02D-1386-10	25933948	49477487	9651496	48	3845											
CBFA2T2	9139	broad.mit.edu	37	20	32198915	32198915	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr20:32198915A>G	ENST00000346541.3	+	4	758	c.221A>G	c.(220-222)aAc>aGc	p.N74S	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N74S|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.N45S|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.N65S|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N84S|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.N45S|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N45S|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.N45S	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	74	Pro-rich.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.N74S(1)|p.N65S(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AATGGCATCAACCATTCTCCT	0.428																																					Esophageal Squamous(174;142 1955 14837 21276 28041)											2	Substitution - Missense(2)	kidney(2)											121	108	112					20																	32198915		2203	4300	6503	SO:0001583	missense	9139			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"Zinc fingers, MYND-type"	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.221A>G	20.37:g.32198915A>G	ENSP00000262653:p.Asn74Ser		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421376	0.62622	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000454955;ENST00000359606	T;T;T;T;T	0.38887	1.12;1.12;1.12;1.11;1.7	5.54	3.25	0.37280	.	0.088393	0.85682	N	0.000000	T	0.22820	0.0551	N	0.11201	0.11	0.80722	D	1	P;P	0.52463	0.953;0.925	B;P	0.46339	0.446;0.513	T	0.13575	-1.0504	10	0.02654	T	1	-5.7037	10.2679	0.43466	0.8758:0.0:0.1242:0.0	.	74;65	O43439;F8W6D7	MTG8R_HUMAN;.	S	74;65;65;45;74;45;45;74;84	ENSP00000364428:N74S;ENSP00000345810:N65S;ENSP00000262653:N74S;ENSP00000380902:N45S;ENSP00000352622:N84S	ENSP00000345810:N65S	N	+	2	0	CBFA2T2	31662576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.469000	0.35343	0.373000	0.24621	0.533000	0.62120	AAC		0.428	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		G	32198915	A	G	32198915	3	3	52	1	0	0	0	0	1	0	0	0	2699	43	2	3	269	3	CBFA2T2	20	32198915	Missense_Mutation	SNP	A	TCGA-A3-3362-01A-02D-1386-10		32198915	30826605	49	3846											
COL6A1	1291	broad.mit.edu	37	21	47409686	47409686	+	Silent	SNP	G	G	T	rs374654116		TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chr21:47409686G>T	ENST00000361866.3	+	11	1038	c.924G>T	c.(922-924)ggG>ggT	p.G308G		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	308	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)	p.G308G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGCCGTGGGGAGAAGGTGA	0.627																																																1	Substitution - coding silent(1)	kidney(1)											126	85	99					21																	47409686		2203	4300	6503	SO:0001819	synonymous_variant	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.924G>T	21.37:g.47409686G>T			O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	CCDS13727.1																																																																																				0.627	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		T	47409686	G	T	47409686	2	4	52	1	0	0	0	0	0	0	0	1	3701	1219	43	4		4	COL6A1	21	47409686	Silent	SNP	G	TCGA-A3-3362-01A-02D-1386-10		47409686	720209	50	3847											
FAM47B	170062	broad.mit.edu	37	X	34961787	34961787	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chrX:34961787C>T	ENST00000329357.5	+	1	875	c.839C>T	c.(838-840)gCg>gTg	p.A280V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	280	Pro-rich.							p.A280V(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GATACTGGAGCGTCCCATCTC	0.632																																																1	Substitution - Missense(1)	kidney(1)											57	54	55					X																	34961787		2202	4300	6502	SO:0001583	missense	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.839C>T	X.37:g.34961787C>T	ENSP00000328307:p.Ala280Val		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.505051	0.00010	.	.	ENSG00000189132	ENST00000329357	T	0.12984	2.63	0.235	-0.47	0.12131	.	.	.	.	.	T	0.02970	0.0088	N	0.00337	-1.62	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.42783	-0.9431	9	0.23302	T	0.38	.	6.573	0.22549	0.0:0.4543:0.0:0.5457	.	280	Q8NA70	FA47B_HUMAN	V	280	ENSP00000328307:A280V	ENSP00000328307:A280V	A	+	2	0	FAM47B	34871708	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.771000	0.00779	-3.428000	0.00165	-3.424000	0.00037	GCG		0.632	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		T	34961787	C	T	34961787	3	4	52	1	0	0	0	0	1	0	0	0	5572	768	27	1	841	1	FAM47B	23	34961787	Missense_Mutation	SNP	C	TCGA-A3-3362-01A-02D-1386-10		34961787	120308773	51	3848											
COL4A6	1288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107457373	107457373	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3362-01A-02D-1386-10	TCGA-A3-3362-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	03c9042a-0206-4f12-b444-62f435140e8d	0ec37c53-395f-4201-92d3-fbaa43f84e51	g.chrX:107457373G>A	ENST00000372216.4	-	6	513	c.413C>T	c.(412-414)cCt>cTt	p.P138L	COL4A6_ENST00000334504.7_Missense_Mutation_p.P137L|COL4A6_ENST00000538570.1_Missense_Mutation_p.P137L|COL4A6_ENST00000545689.1_Missense_Mutation_p.P137L|COL4A6_ENST00000394872.2_Missense_Mutation_p.P136L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	138	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P137L(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATAGCCATCAGGGCCTGGAAA	0.522									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Substitution - Missense(1)	kidney(1)											100	88	92					X																	107457373		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.413C>T	X.37:g.107457373G>A	ENSP00000361290:p.Pro138Leu		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753653	0.31046	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.96685	-4.09;-4.09;-3.84;-4.09;-4.09	4.92	3.07	0.35406	.	0.391459	0.18904	N	0.127945	D	0.91277	0.7250	N	0.25380	0.74	0.40487	D	0.980508	B;B;B;B	0.15719	0.012;0.012;0.014;0.012	B;B;B;B	0.17098	0.01;0.01;0.017;0.01	D	0.84132	0.0412	10	0.16420	T	0.52	.	11.0245	0.47736	0.0:0.0:0.6641:0.3359	.	137;137;138;137	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	L	138;137;136;137;137;137	ENSP00000361290:P138L;ENSP00000334733:P137L;ENSP00000378340:P136L;ENSP00000443707:P137L;ENSP00000445236:P137L	ENSP00000334733:P137L	P	-	2	0	COL4A6	107344029	0.811000	0.29063	0.993000	0.49108	0.982000	0.71751	1.316000	0.33620	0.502000	0.28037	0.506000	0.49869	CCT		0.522	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			A	107457373	G	A	107457373	3	1	52	1	0	0	0	0	1	0	0	0	3697	1000	35	2	4822	2	COL4A6	23	107457373	Missense_Mutation	SNP	G	TCGA-A3-3362-01A-02D-1386-10	72495586	107457373	47813187	52	3849											
RPL22	6146	broad.mit.edu;hgsc.bcm.edu	37	1	6246862	6246862	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:6246862A>G	ENST00000234875.4	-	4	295	c.257T>C	c.(256-258)cTc>cCc	p.L86P	RPL22_ENST00000497965.1_Missense_Mutation_p.L53P|RPL22_ENST00000484532.1_Intron	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	86					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.L86P(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTTTTTGGTGAGATATTTCAA	0.368			T	RUNX1	"AML, CML"																																		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Substitution - Missense(1)	kidney(1)											42	43	42					1																	6246862		2203	4299	6502	SO:0001583	missense	6146			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"L ribosomal proteins"	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.257T>C	1.37:g.6246862A>G	ENSP00000346088:p.Leu86Pro		B2R495|Q6IBD1	Missense_Mutation	SNP	ENST00000234875.4	37	CCDS58.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287530	0.80803	.	.	ENSG00000116251	ENST00000234875	T	0.65916	-0.18	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	H	0.94964	3.605	0.80722	D	1	D	0.67145	0.996	D	0.63877	0.919	D	0.88419	0.3027	10	0.72032	D	0.01	-21.7793	15.4654	0.75397	1.0:0.0:0.0:0.0	.	86	P35268	RL22_HUMAN	P	86	ENSP00000346088:L86P	ENSP00000346088:L86P	L	-	2	0	RPL22	6169449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.158000	0.94723	2.049000	0.60858	0.379000	0.24179	CTC		0.368	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983		G	6246862	A	G	6246862	3	3	53	1	0	0	0	0	1	0	0	0	13574	304	11	3	133	3	RPL22	1	6246862	Missense_Mutation	SNP	A	TCGA-A3-3367-01A-02D-1421-08		6246862	243003759	1	3850											
EPHA2	1969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16458586	16458586	+	Silent	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:16458586G>A	ENST00000358432.5	-	13	2452	c.2298C>T	c.(2296-2298)gaC>gaT	p.D766D		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	766	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D766D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CCTCGGGGTCGTCCTCCAGCA	0.612																																																1	Substitution - coding silent(1)	kidney(1)											119	106	111					1																	16458586		2203	4300	6503	SO:0001819	synonymous_variant	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2298C>T	1.37:g.16458586G>A			B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	CCDS169.1																																																																																				0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		A	16458586	G	A	16458586	2	1	53	1	0	0	0	0	0	0	0	1	5169	1136	40	1		1	EPHA2	1	16458586	Silent	SNP	G	TCGA-A3-3367-01A-02D-1421-08	10211724	16458586	232792035	2	3851											
SNX7	51375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	99156689	99156689	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:99156689T>A	ENST00000306121.3	+	3	431	c.422T>A	c.(421-423)tTc>tAc	p.F141Y	SNX7_ENST00000370189.5_Missense_Mutation_p.F77Y|SNX7_ENST00000529992.1_Missense_Mutation_p.F141Y	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	77	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.F77Y(1)|p.F141Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TATCAAGATTTCCTTTGGTTG	0.358																																																2	Substitution - Missense(2)	kidney(2)											93	90	91					1																	99156689		2203	4300	6503	SO:0001583	missense	51375			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.422T>A	1.37:g.99156689T>A	ENSP00000304429:p.Phe141Tyr		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	T	29.4	5.006861	0.93287	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121;ENST00000454199	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.89931	0.6858	H	0.98802	4.335	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.93934	0.7217	10	0.87932	D	0	-21.3036	16.4781	0.84144	0.0:0.0:0.0:1.0	.	141;141;77	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	Y	77;141;141;77	ENSP00000359208:F77Y;ENSP00000434731:F141Y;ENSP00000304429:F141Y;ENSP00000388266:F77Y	ENSP00000304429:F141Y	F	+	2	0	SNX7	98929277	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.288000	0.76882	0.528000	0.53228	TTC		0.358	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			A	99156689	T	A	99156689	3	1	53	1	0	0	0	0	1	0	0	0	14913	1783	62	5	432	5	SNX7	1	99156689	Missense_Mutation	SNP	T	TCGA-A3-3367-01A-02D-1421-08	82698103	99156689	150093932	3	3852											
OLFML3	56944	hgsc.bcm.edu	37	1	114522961	114522962	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:114522961_114522962insG	ENST00000320334.4	+	2	196_197	c.122_123insG	c.(121-126)ctggccfs	p.A42fs	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.A22fs|OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.A22fs	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	42					multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGAACGGCTGGCCCAGTGCC	0.604																																																0																																										SO:0001589	frameshift_variant	56944			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.124dupG	1.37:g.114522963_114522963dupG	ENSP00000322273:p.Ala42fs		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	CCDS870.1																																																																																				0.604	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		G	114522962	-	G	114522961	7	5	53	1	0	1	1	0	0	0	0	0	10861	1580	55	0	128	0	OLFML3	1	114522961	Frame_Shift_Ins	INS	-	TCGA-A3-3367-01A-02D-1421-08	15366272	114522961	134727660	4	3853											
RC3H1	149041	hgsc.bcm.edu;ucsc.edu	37	1	173950062	173950074	+	Frame_Shift_Del	DEL	GAGTCATGTTCTC	GAGTCATGTTCTC	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	GAGTCATGTTCTC	GAGTCATGTTCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:173950062_173950074delGAGTCATGTTCTC	ENST00000367696.2	-	6	1193_1205	c.842_854delGAGAACATGACTC	c.(841-855)cgagaacatgactccfs	p.REHDS281fs	RC3H1_ENST00000367694.2_Frame_Shift_Del_p.REHDS281fs|RC3H1_ENST00000258349.4_Frame_Shift_Del_p.REHDS281fs			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	281					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CACTATCTGGGAGTCATGTTCTCGCCGCAGAGC	0.432																																																0																																										SO:0001589	frameshift_variant	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.842_854delGAGAACATGACTC	1.37:g.173950062_173950074delGAGTCATGTTCTC	ENSP00000356669:p.Arg281fs		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Frame_Shift_Del	DEL	ENST00000367696.2	37	CCDS30940.1																																																																																				0.432	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		-	173950074	GAGTCATGTTCTC	-	173950062	7	5	53	1	0	1	0	1	0	0	0	0	13172	1174	41	0	2607	0	RC3H1	1	173950062	Frame_Shift_Del	DEL	GAGTCATGTTCTC	TCGA-A3-3367-01A-02D-1421-08	59427101	173950062	75300559	5	3854											
KIF21B	23046	hgsc.bcm.edu;ucsc.edu	37	1	200956041	200956046	+	Splice_Site	DEL	CTAGGG	CTAGGG	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	CTAGGG	CTAGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:200956041_200956046delCTAGGG	ENST00000422435.2	-	26	3931_3936	c.3615_3620delCCCTAG	c.(3613-3621)ttccctagg>ttg	p.1205_1207FPR>L	KIF21B_ENST00000360529.5_Splice_Site_p.1205_1207FPR>L|KIF21B_ENST00000332129.2_Splice_Site_p.1205_1207FPR>L|KIF21B_ENST00000461742.2_Splice_Site_p.1205_1207FPR>L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1205					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCGAGATTGCCTAGGGCTACAACAGA	0.573																																																0																																										SO:0001630	splice_region_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3615-1CCCTAG>-	1.37:g.200956041_200956046delCTAGGG			B2RP62|B7ZMI0|Q5T4J3	In_Frame_Del	DEL	ENST00000422435.2	37	CCDS58056.1																																																																																				0.573	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	In_Frame_Del	-	200956046	CTAGGG	-	200956041	8	5	53	1	0	1	0	1	0	0	1	0	8291	681	24	0	1290	0	KIF21B	1	200956041	Splice_Site	DEL	CTAGGG	TCGA-A3-3367-01A-02D-1421-08	27005979	200956041	48294580	6	3855											
SRP9	6726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	225971002	225971002	+	Splice_Site	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:225971002G>A	ENST00000304786.7	+	2	185	c.73G>A	c.(73-75)Gca>Aca	p.A25T	SRP9_ENST00000366839.4_Splice_Site_p.A25T|SRP9_ENST00000366838.1_Splice_Site_p.A25T	NM_003133.5	NP_003124.1	P49458	SRP09_HUMAN	signal recognition particle 9kDa	25					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|negative regulation of translational elongation (GO:0045900)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|signal recognition particle receptor complex (GO:0005785)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|RNA binding (GO:0003723)|signal recognition particle binding (GO:0005047)	p.A25T(1)		endometrium(1)|kidney(1)|skin(1)	3						TTTGTTTCAGGCACGTGTGGT	0.294																																																1	Substitution - Missense(1)	kidney(1)											148	146	146					1																	225971002		2203	4297	6500	SO:0001630	splice_region_variant	6726			BC015094	CCDS1546.1, CCDS44323.1	1q42.12	2010-06-03	2002-08-29		ENSG00000143742	ENSG00000143742			11304	protein-coding gene	gene with protein product		600707	"signal recognition particle 9kD"			7730321	Standard	NM_001130440		Approved		uc001hpg.3	P49458	OTTHUMG00000037738	ENST00000304786.7:c.73-1G>A	1.37:g.225971002G>A			A8K0N0|Q6NVX0|Q8WTW0	Missense_Mutation	SNP	ENST00000304786.7	37	CCDS1546.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115639	0.37339	.	.	ENSG00000143742	ENST00000304786;ENST00000366839;ENST00000366838	.	.	.	5.77	5.77	0.91146	Signal recognition particle, SRP9/SRP14 subunit (2);	0.178109	0.37623	U	0.002006	T	0.49064	0.1535	.	.	.	0.37319	D	0.909466	B;B	0.30686	0.29;0.003	B;B	0.30782	0.12;0.013	T	0.49234	-0.8961	7	.	.	.	-2.811	18.1789	0.89771	0.0:0.0:1.0:0.0	.	25;25	P49458-2;P49458	.;SRP09_HUMAN	T	25	.	.	A	+	1	0	SRP9	224037625	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.904000	0.87408	2.724000	0.93272	0.561000	0.74099	GCA		0.294	SRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092054.1	NM_003133	Missense_Mutation	A	225971002	G	A	225971002	5	1	53	1	0	0	0	0	0	0	1	0	15163	1217	42	2	79	2	SRP9	1	225971002	Splice_Site	SNP	G	TCGA-A3-3367-01A-02D-1421-08	25014961	225971002	23279619	7	3856											
ZP4	57829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	238048491	238048491	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr1:238048491C>A	ENST00000366570.4	-	9	1443	c.1285G>T	c.(1285-1287)Gtg>Ttg	p.V429L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	429	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.V429L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGTTTCTCCACTGTAGGGTTC	0.532																																					NSCLC(166;160 2029 11600 18754 19936)											1	Substitution - Missense(1)	kidney(1)											88	91	90					1																	238048491		2203	4300	6503	SO:0001583	missense	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1285G>T	1.37:g.238048491C>A	ENSP00000355529:p.Val429Leu		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	5.632	0.301343	0.10678	.	.	ENSG00000116996	ENST00000366570	T	0.74209	-0.82	5.09	-7.04	0.01578	Zona pellucida sperm-binding protein (3);	2.733670	0.01388	N	0.013174	T	0.60958	0.2309	L	0.46741	1.465	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.38243	-0.9670	10	0.25751	T	0.34	.	2.9815	0.05955	0.1038:0.1418:0.3069:0.4474	.	429	Q12836	ZP4_HUMAN	L	429	ENSP00000355529:V429L	ENSP00000355529:V429L	V	-	1	0	ZP4	236115114	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.298000	0.02756	-0.982000	0.03515	-0.840000	0.03056	GTG		0.532	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			A	238048491	C	A	238048491	3	1	53	1	0	0	0	0	1	0	0	0	18223	565	20	4	353	4	ZP4	1	238048491	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	12077489	238048491	11202130	8	3857											
GREB1	9687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11772090	11772090	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr2:11772090A>G	ENST00000381486.2	+	27	4967	c.4667A>G	c.(4666-4668)cAt>cGt	p.H1556R	GREB1_ENST00000396123.1_Missense_Mutation_p.H554R|GREB1_ENST00000234142.5_Missense_Mutation_p.H1556R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1556						integral component of membrane (GO:0016021)		p.H1556R(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGTCACGAACATGGGCTCTTT	0.458																																					Ovarian(39;850 945 2785 23371 33093)											1	Substitution - Missense(1)	kidney(1)											101	99	100					2																	11772090		1944	4138	6082	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4667A>G	2.37:g.11772090A>G	ENSP00000370896:p.His1556Arg		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029393	0.75504	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.49432	0.78;0.78;0.78	5.48	5.48	0.80851	.	0.093220	0.64402	D	0.000001	T	0.66356	0.2781	M	0.72118	2.19	0.80722	D	1	D	0.58970	0.984	D	0.63488	0.915	T	0.69997	-0.4993	10	0.66056	D	0.02	-27.4157	15.552	0.76161	1.0:0.0:0.0:0.0	.	1556	Q4ZG55	GREB1_HUMAN	R	1556;1556;554	ENSP00000370896:H1556R;ENSP00000234142:H1556R;ENSP00000379429:H554R	ENSP00000234142:H1556R	H	+	2	0	GREB1	11689541	1.000000	0.71417	0.983000	0.44433	0.599000	0.36880	8.837000	0.92110	2.079000	0.62486	0.455000	0.32223	CAT		0.458	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		G	11772090	A	G	11772090	3	3	53	1	0	0	0	0	1	0	0	0	6762	217	8	3	4877	3	GREB1	2	11772090	Missense_Mutation	SNP	A	TCGA-A3-3367-01A-02D-1421-08		11772090	231427283	9	3858											
CHRNA1	1134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	175614794	175614794	+	Silent	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr2:175614794A>G	ENST00000261007.5	-	8	1023	c.957T>C	c.(955-957)atT>atC	p.I319I	CHRNA1_ENST00000348749.5_Silent_p.I294I|CHRNA1_ENST00000409219.1_Silent_p.I294I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.I212I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	319					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.I319I(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TGTATTTTCCAATCAAGGGCA	0.502																																																1	Substitution - coding silent(1)	kidney(1)											211	161	178					2																	175614794		2203	4300	6503	SO:0001819	synonymous_variant	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.957T>C	2.37:g.175614794A>G			B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	CCDS33331.1																																																																																				0.502	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			G	175614794	A	G	175614794	2	3	53	1	0	0	0	0	0	0	0	1	3383	126	5	3		3	CHRNA1	2	175614794	Silent	SNP	A	TCGA-A3-3367-01A-02D-1421-08	163842704	175614794	67584579	10	3859											
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238249699	238249699	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr2:238249699C>T	ENST00000295550.4	-	38	8312	c.7860G>A	c.(7858-7860)atG>atA	p.M2620I	COL6A3_ENST00000472056.1_Missense_Mutation_p.M2013I|COL6A3_ENST00000347401.3_Missense_Mutation_p.M2419I|COL6A3_ENST00000409809.1_Missense_Mutation_p.M2414I|COL6A3_ENST00000353578.4_Missense_Mutation_p.M2414I|COL6A3_ENST00000346358.4_Missense_Mutation_p.M2420I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2620	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.M2620I(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGATGAAAGCCATGTCGATGT	0.527																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											190	184	186					2																	238249699		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7860G>A	2.37:g.238249699C>T	ENSP00000295550:p.Met2620Ile		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043294	0.36085	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.05	5.05	0.67936	von Willebrand factor, type A (3);	0.443090	0.21076	N	0.080571	T	0.62841	0.2461	N	0.17474	0.49	0.40261	D	0.978171	B;B;B	0.25390	0.001;0.001;0.125	B;B;B	0.37267	0.002;0.001;0.245	T	0.55891	-0.8069	10	0.02654	T	1	.	10.1126	0.42572	0.0:0.8746:0.0:0.1254	.	2013;2414;2620	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	I	2620;2419;2414;2013;2414;2420	ENSP00000295550:M2620I;ENSP00000315609:M2419I;ENSP00000315873:M2414I;ENSP00000418285:M2013I;ENSP00000386844:M2414I;ENSP00000295546:M2420I	ENSP00000295550:M2620I	M	-	3	0	COL6A3	237914438	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	1.181000	0.32017	2.478000	0.83669	0.655000	0.94253	ATG		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238249699	C	T	238249699	3	4	53	1	0	0	0	0	1	0	0	0	3703	594	21	2	1701	2	COL6A3	2	238249699	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	62634905	238249699	4949674	11	3860											
CXCR6	10663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	45988808	45988808	+	Silent	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr3:45988808C>T	ENST00000458629.1	+	1	2298	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Silent_p.L279L|CXCR6_ENST00000438735.1_Silent_p.L279L|CXCR6_ENST00000457814.1_Silent_p.L279L			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	279					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)	p.L279L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CATCGCATACCTGAGGGCCTG	0.502																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)											1	Substitution - coding silent(1)	kidney(1)											116	98	104					3																	45988808		2203	4300	6503	SO:0001819	synonymous_variant	10663			AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.835C>T	3.37:g.45988808C>T			O00575|Q9HCA5	Silent	SNP	ENST00000458629.1	37	CCDS2735.1																																																																																				0.502	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			T	45988808	C	T	45988808	2	4	53	1	0	0	0	0	0	0	0	1	4097	680	24	2		2	CXCR6	3	45988808	Silent	SNP	C	TCGA-A3-3367-01A-02D-1421-08		45988808	152033622	12	3861											
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47058645	47058646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr3:47058645_47058646insA	ENST00000409792.3	-	21	7674_7675	c.7632_7633insT	c.(7630-7635)attaagfs	p.K2545fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2545	Interaction with POLR2A.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGTACTTCTTAATGTACTCCT	0.46			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7633dupT	3.37:g.47058647_47058647dupA	ENSP00000386759:p.Lys2545fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	INS	ENST00000409792.3	37	CCDS2749.2																																																																																				0.46	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47058646	-	A	47058645	7	5	53	1	0	1	1	0	0	0	0	0	14137	1763	61	0	65	0	SETD2	3	47058645	Frame_Shift_Ins	INS	-	TCGA-A3-3367-01A-02D-1421-08	1069837	47058645	150963785	13	3862											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52651339	52651339	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr3:52651339A>G	ENST00000296302.7	-	14	1758	c.1757T>C	c.(1756-1758)aTg>aCg	p.M586T	PBRM1_ENST00000410007.1_Missense_Mutation_p.M586T|PBRM1_ENST00000409767.1_Missense_Mutation_p.M601T|PBRM1_ENST00000394830.3_Missense_Mutation_p.M586T|PBRM1_ENST00000409114.3_Missense_Mutation_p.M601T|PBRM1_ENST00000409057.1_Missense_Mutation_p.M586T|PBRM1_ENST00000337303.4_Missense_Mutation_p.M586T|PBRM1_ENST00000356770.4_Missense_Mutation_p.M554T			Q86U86	PB1_HUMAN	polybromo 1	586	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.M586T(2)|p.M586K(2)|p.M554T(1)|p.M554K(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTCTTCTATCATTCCCTCTTC	0.443			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Missense(6)	kidney(6)											118	107	111					3																	52651339		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1757T>C	3.37:g.52651339A>G	ENSP00000296302:p.Met586Thr		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	17.27	3.347378	0.61183	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.84	5.84	0.93424	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.69185	2.1	0.80722	D	1	P;P;P;P;B;P;P;B;P	0.52842	0.772;0.866;0.8;0.608;0.322;0.866;0.809;0.299;0.956	P;P;D;P;B;P;P;B;D	0.72338	0.685;0.813;0.947;0.606;0.28;0.652;0.699;0.365;0.977	T	0.57154	-0.7860	10	0.72032	D	0.01	-18.2278	16.2167	0.82231	1.0:0.0:0.0:0.0	.	586;586;586;586;601;601;586;554;586	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	T	554;586;586;586;586;586;601;601;586;545	ENSP00000349213:M554T;ENSP00000378307:M586T;ENSP00000296302:M586T;ENSP00000338302:M586T;ENSP00000386593:M586T;ENSP00000386529:M586T;ENSP00000386643:M601T;ENSP00000386601:M601T;ENSP00000387775:M586T;ENSP00000397662:M545T	ENSP00000296302:M586T	M	-	2	0	PBRM1	52626379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.231000	0.72958	0.533000	0.62120	ATG		0.443	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		G	52651339	A	G	52651339	3	3	53	1	0	0	0	0	1	0	0	0	11493	217	8	3	3211	3	PBRM1	3	52651339	Missense_Mutation	SNP	A	TCGA-A3-3367-01A-02D-1421-08	5592694	52651339	145371091	14	3863											
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130286060	130286063	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	GAAA	GAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr3:130286060_130286063delGAAA	ENST00000358511.6	+	4	1828_1831	c.1797_1800delGAAA	c.(1795-1800)ttgaaafs	p.LK599fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.LK599fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	599	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGATGCATTGAAAGACATAAGAA	0.422																																																0																																										SO:0001589	frameshift_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1797_1800delGAAA	3.37:g.130286060_130286063delGAAA	ENSP00000351310:p.Leu599fs		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	CCDS46911.1																																																																																				0.422	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		-	130286063	GAAA	-	130286060	7	5	53	1	0	1	0	1	0	0	0	0	3705	1281	45	0	1811	0	COL6A6	3	130286060	Frame_Shift_Del	DEL	GAAA	TCGA-A3-3367-01A-02D-1421-08	77634721	130286060	67736370	15	3864											
MME	4311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	154862150	154862150	+	Silent	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr3:154862150C>A	ENST00000460393.1	+	14	1440	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	MME_ENST00000492661.1_Silent_p.V440V|MME_ENST00000360490.2_Silent_p.V440V|MME_ENST00000493237.1_Silent_p.V440V|MME_ENST00000462745.1_Silent_p.V440V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	440					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.V440V(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GATTTGAGGTCGAGGATTTGA	0.343																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											90	93	92					3																	154862150		2203	4300	6503	SO:0001819	synonymous_variant	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1320C>A	3.37:g.154862150C>A			A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	CCDS3172.1																																																																																				0.343	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		A	154862150	C	A	154862150	2	1	53	1	0	0	0	0	0	0	0	1	9647	871	31	4		4	MME	3	154862150	Silent	SNP	C	TCGA-A3-3367-01A-02D-1421-08	24576090	154862150	43160280	16	3865											
NUDT6	11162	broad.mit.edu	37	4	123843511	123843511	+	Missense_Mutation	SNP	C	C	T	rs202184714		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr4:123843511C>T	ENST00000304430.5	-	1	250	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	SPATA5_ENST00000274008.4_5'Flank|NUDT6_ENST00000339154.2_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	73						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)	p.A73T(1)		endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						TTCTGGAAGGCGGCAGCGTCC	0.667																																																1	Substitution - Missense(1)	kidney(1)											12	15	14					4																	123843511		1967	4141	6108	SO:0001583	missense	11162			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.217G>A	4.37:g.123843511C>T	ENSP00000306070:p.Ala73Thr		A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960183	0.74016	.	.	ENSG00000170917	ENST00000304430	T	0.23147	1.92	4.5	0.419	0.16438	.	0.357416	0.27912	N	0.017356	T	0.14399	0.0348	L	0.38838	1.175	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.14144	-1.0483	10	0.13108	T	0.6	-2.0913	5.6749	0.17743	0.1512:0.5745:0.0:0.2743	.	73	P53370	NUDT6_HUMAN	T	73	ENSP00000306070:A73T	ENSP00000306070:A73T	A	-	1	0	NUDT6	124062961	0.330000	0.24705	0.990000	0.47175	0.694000	0.40290	-0.521000	0.06245	0.140000	0.18849	0.561000	0.74099	GCC		0.667	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		T	123843511	C	T	123843511	3	4	53	1	0	0	0	0	1	0	0	0	10745	768	27	1	753	1	NUDT6	4	123843511	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08		123843511	67310765	17	3866											
IL3	3562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131396700	131396700	+	Splice_Site	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr5:131396700T>A	ENST00000296870.2	+	2	381	c.203T>A	c.(202-204)aTg>aAg	p.M68K		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	68					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)	p.M68K(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GACATTCTGATGGTAAGAGCT	0.522																																																1	Substitution - Missense(1)	kidney(1)											116	102	107					5																	131396700		2203	4300	6503	SO:0001630	splice_region_variant	3562			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"Interleukins and interleukin receptors"	6011	protein-coding gene	gene with protein product	"multilineage-colony-stimulating factor", "hematopoietic growth factor", "P-cell stimulating factor", "mast-cell growth factor", "colony-stimulating factor, multiple"	147740	"interleukin 3 (colony-stimulating factor, multiple)"			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.204+1T>A	5.37:g.131396700T>A			Q6GS87	Missense_Mutation	SNP	ENST00000296870.2	37	CCDS4149.1	.	.	.	.	.	.	.	.	.	.	T	2.227	-0.377119	0.05000	.	.	ENSG00000164399	ENST00000296870	T	0.29917	1.55	4.54	-9.08	0.00720	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.341900	0.01230	N	0.008337	T	0.16471	0.0396	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16217	-1.0410	10	0.46703	T	0.11	5.9342	1.7457	0.02961	0.2924:0.2088:0.0821:0.4168	.	68	P08700	IL3_HUMAN	K	68	ENSP00000296870:M68K	ENSP00000296870:M68K	M	+	2	0	IL3	131424599	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-6.999000	0.00047	-5.022000	0.00024	-1.385000	0.01166	ATG		0.522	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588	Missense_Mutation	A	131396700	T	A	131396700	5	1	53	1	0	0	0	0	0	0	1	0	7691	1478	51	5	209	5	IL3	5	131396700	Splice_Site	SNP	T	TCGA-A3-3367-01A-02D-1421-08		131396700	49518560	18	3867											
PPP2R2B	5521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	146236091	146236091	+	Intron	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr5:146236091T>A	ENST00000394413.3	-	1	641				PPP2R2B_ENST00000530902.1_Intron|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000336640.6_Intron|PPP2R2B_ENST00000453001.1_Intron|PPP2R2B_ENST00000394411.4_Intron|PPP2R2B_ENST00000394409.3_Intron|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.Y3F|PPP2R2B_ENST00000356826.3_Intron|PPP2R2B_ENST00000394414.1_Intron|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.Y3F			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta						apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.Y3F(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATCTGGATAATTCATGCT	0.383																																																1	Substitution - Missense(1)	kidney(1)											144	127	132					5																	146236091		1862	4097	5959	SO:0001627	intron_variant	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.70+21473A>T	5.37:g.146236091T>A			A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.456819	0.26161	.	.	ENSG00000156475	ENST00000508545;ENST00000394410	T;T	0.73363	-0.74;-0.74	4.66	2.33	0.28932	.	.	.	.	.	T	0.45955	0.1368	N	0.08118	0	0.18873	N	0.999981	B	0.02656	0.0	B	0.01281	0.0	T	0.37572	-0.9700	9	0.02654	T	1	.	5.6867	0.17807	0.0:0.2109:0.0:0.7891	.	3	G3V149	.	F	3	ENSP00000431320:Y3F;ENSP00000377932:Y3F	ENSP00000377932:Y3F	Y	-	2	0	AC011357.1	146216284	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.382000	0.20635	0.924000	0.37069	0.454000	0.30748	TAT		0.383	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		A	146236091	T	A	146236091	1	1	53	0	1	0	0	0	0	0	0	0	12390	1406	49	5		5	PPP2R2B	5	146236091	Intron	SNP	T	TCGA-A3-3367-01A-02D-1421-08	14839391	146236091	34679169	19	3868											
GM2A	2760	broad.mit.edu	37	5	150646946	150646946	+	Silent	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr5:150646946C>T	ENST00000357164.3	+	4	841	c.516C>T	c.(514-516)agC>agT	p.S172S		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	172					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)	p.S172S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATAGAGAGCGTCCTGAGCA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											91	81	85					5																	150646946		2203	4300	6503	SO:0001819	synonymous_variant	2760				CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"cerebroside sulfate activator protein", "sphingolipid activator protein 3"	613109	"GM2 ganglioside activator protein"			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.516C>T	5.37:g.150646946C>T			B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Silent	SNP	ENST00000357164.3	37	CCDS4313.1																																																																																				0.577	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405		T	150646946	C	T	150646946	2	4	53	1	0	0	0	0	0	0	0	1	6486	767	27	1		1	GM2A	5	150646946	Silent	SNP	C	TCGA-A3-3367-01A-02D-1421-08	4410855	150646946	30268314	20	3869											
C6orf222	389384	broad.mit.edu;ucsc.edu	37	6	36294388	36294388	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr6:36294388C>T	ENST00000437635.2	-	5	1112	c.935G>A	c.(934-936)gGg>gAg	p.G312E		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	312								p.G312E(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ATCTGCAGCCCCCCTCTTGGC	0.557																																																1	Substitution - Missense(1)	kidney(1)											130	138	135					6																	36294388		2203	4300	6503	SO:0001583	missense	389384				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.935G>A	6.37:g.36294388C>T	ENSP00000418983:p.Gly312Glu		B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	9.797	1.179536	0.21787	.	.	ENSG00000189325	ENST00000437635	T	0.48201	0.82	3.36	0.379	0.16213	.	0.487929	0.17517	N	0.171418	T	0.26268	0.0641	M	0.62723	1.935	0.09310	N	1	B	0.29627	0.252	B	0.37943	0.261	T	0.36138	-0.9760	10	0.66056	D	0.02	-3.6136	5.3587	0.16075	0.0:0.4746:0.4056:0.1197	.	312	P0C671	CF222_HUMAN	E	312	ENSP00000418983:G312E	ENSP00000418983:G312E	G	-	2	0	C6orf222	36402366	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.206000	0.09398	0.061000	0.16311	0.462000	0.41574	GGG		0.557	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		T	36294388	C	T	36294388	3	4	53	1	0	0	0	0	1	0	0	0	2358	623	22	2	1055	2	C6orf222	6	36294388	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08		36294388	134820679	21	3870											
BACH2	60468	broad.mit.edu	37	6	90660625	90660625	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr6:90660625C>A	ENST00000257749.4	-	7	1907	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.K400N|BACH2_ENST00000537989.1_Missense_Mutation_p.K400N	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	400						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.K400N(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGACACCTCCTTCTGGCCCA	0.582																																																2	Substitution - Missense(2)	kidney(2)											25	27	26					6																	90660625		2149	4203	6352	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1200G>T	6.37:g.90660625C>A	ENSP00000257749:p.Lys400Asn		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855078	0.51376	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.50813	0.73;0.73;0.73	5.56	5.56	0.83823	.	0.044680	0.85682	D	0.000000	T	0.51312	0.1667	L	0.32530	0.975	0.50171	D	0.999858	D	0.76494	0.999	D	0.63488	0.915	T	0.55604	-0.8115	10	0.87932	D	0	-28.2176	19.5376	0.95260	0.0:1.0:0.0:0.0	.	400	Q9BYV9	BACH2_HUMAN	N	400	ENSP00000257749:K400N;ENSP00000437473:K400N;ENSP00000345642:K400N	ENSP00000257749:K400N	K	-	3	2	BACH2	90717346	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	2.751000	0.47508	2.620000	0.88729	0.655000	0.94253	AAG		0.582	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		A	90660625	C	A	90660625	3	1	53	1	0	0	0	0	1	0	0	0	1284	680	24	4	1337	4	BACH2	6	90660625	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	54366237	90660625	80454442	22	3871											
MCHR2	84539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	100395756	100395756	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr6:100395756G>T	ENST00000281806.2	-	3	588	c.274C>A	c.(274-276)Caa>Aaa	p.Q92K	MCHR2_ENST00000369212.2_Missense_Mutation_p.Q92K	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q92K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CGGGCCCATTGGTGAATAAGA	0.493																																																1	Substitution - Missense(1)	kidney(1)											96	98	97					6																	100395756		2203	4300	6503	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.274C>A	6.37:g.100395756G>T	ENSP00000281806:p.Gln92Lys		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449182	0.84101	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.71461	-0.57;-0.57;-0.57	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.75946	0.3919	L	0.57536	1.79	0.40887	D	0.984042	D	0.76494	0.999	D	0.79108	0.992	T	0.75233	-0.3390	10	0.35671	T	0.21	.	15.9515	0.79843	0.0:0.0:1.0:0.0	.	92	Q969V1	MCHR2_HUMAN	K	92	ENSP00000403490:Q92K;ENSP00000281806:Q92K;ENSP00000358214:Q92K	ENSP00000281806:Q92K	Q	-	1	0	MCHR2	100502477	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.393000	0.66279	2.089000	0.63090	0.650000	0.86243	CAA		0.493	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		T	100395756	G	T	100395756	3	4	53	1	0	0	0	0	1	0	0	0	9385	1357	47	4	764	4	MCHR2	6	100395756	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08	9735131	100395756	70719311	23	3872											
STAG3L2	442582	broad.mit.edu	37	7	74299903	74299903	+	RNA	DEL	C	C	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr7:74299903delC	ENST00000423186.1	-	0	1024							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GGGGTAGACGCTCTCACAGTC	0.502																																																0													1	1	1					7																	74299903		736	1437	2173			442582					7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"stromal antigen 3-like 2"				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74299903delC			A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	Frame_Shift_Del	DEL	ENST00000423186.1	37																																																																																					0.502	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		-	74299903	C	-	74299903	6	5	53	0	1	1	0	1	0	0	0	0	15250	797	28	0		0	STAG3L2	7	74299903	RNA	DEL	C	TCGA-A3-3367-01A-02D-1421-08		74299903	84838760	24	3873											
MTUS1	57509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	17612685	17612685	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr8:17612685G>T	ENST00000262102.6	-	2	856	c.632C>A	c.(631-633)tCc>tAc	p.S211Y	MTUS1_ENST00000381862.3_Missense_Mutation_p.S211Y|MTUS1_ENST00000381869.3_Missense_Mutation_p.S211Y|MTUS1_ENST00000519263.1_Missense_Mutation_p.S211Y	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	211					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S211Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ATCAGAATGGGAAGATGTCCA	0.438																																																1	Substitution - Missense(1)	kidney(1)											164	143	149					8																	17612685		1916	4125	6041	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.632C>A	8.37:g.17612685G>T	ENSP00000262102:p.Ser211Tyr		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286522	0.59867	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.23552	2.84;2.92;2.84;1.9	4.42	2.64	0.31445	.	0.619577	0.15249	N	0.272432	T	0.25082	0.0609	L	0.27053	0.805	0.09310	N	1	D;P;P	0.54047	0.964;0.688;0.688	P;B;B	0.53185	0.72;0.428;0.428	T	0.05801	-1.0863	9	.	.	.	-1.0599	7.9638	0.30087	0.2682:0.0:0.7318:0.0	.	211;211;211	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	Y	211	ENSP00000371293:S211Y;ENSP00000262102:S211Y;ENSP00000430167:S211Y;ENSP00000371286:S211Y	.	S	-	2	0	MTUS1	17656965	0.026000	0.19158	0.005000	0.12908	0.646000	0.38490	1.042000	0.30303	0.810000	0.34279	0.563000	0.77884	TCC		0.438	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		T	17612685	G	T	17612685	3	4	53	1	0	0	0	0	1	0	0	0	9967	1174	41	4	3555	4	MTUS1	8	17612685	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08		17612685	128751337	25	3874											
CLVS1	157807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	62212689	62212689	+	Silent	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr8:62212689C>T	ENST00000519846.1	+	3	775	c.303C>T	c.(301-303)cgC>cgT	p.R101R	CLVS1_ENST00000325897.4_Silent_p.R101R|RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	101					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.R101R(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCCAGTACCGCCAGCTAAACC	0.507																																																1	Substitution - coding silent(1)	kidney(1)											65	63	64					8																	62212689		2203	4300	6503	SO:0001819	synonymous_variant	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.303C>T	8.37:g.62212689C>T			B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	CCDS6176.1																																																																																				0.507	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		T	62212689	C	T	62212689	2	4	53	1	0	0	0	0	0	0	0	1	3573	726	26	2		2	CLVS1	8	62212689	Silent	SNP	C	TCGA-A3-3367-01A-02D-1421-08	44600004	62212689	84151333	26	3875											
FAM82B	51115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87500826	87500826	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr8:87500826C>G	ENST00000406452.3	-	3	449	c.290G>C	c.(289-291)gGa>gCa	p.G97A	RMDN1_ENST00000430676.2_Missense_Mutation_p.G97A|RMDN1_ENST00000519966.1_Missense_Mutation_p.G97A|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Missense_Mutation_p.G53A	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	97						microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.G97A(1)									TTCTGTTTCTCCGCTTTCATA	0.348																																																1	Substitution - Missense(1)	kidney(1)											186	184	185					8																	87500826		2203	4299	6502	SO:0001583	missense	0			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.290G>C	8.37:g.87500826C>G	ENSP00000385927:p.Gly97Ala		A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	ENST00000406452.3	37	CCDS34918.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183850	0.57800	.	.	ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000521045	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.69	5.69	0.88448	.	0.114374	0.64402	N	0.000012	T	0.52837	0.1759	L	0.58669	1.825	0.80722	D	1	P;B;B	0.48089	0.905;0.285;0.285	P;B;B	0.51487	0.671;0.32;0.32	T	0.36383	-0.9750	10	0.21540	T	0.41	-23.2497	19.8093	0.96541	0.0:1.0:0.0:0.0	.	97;97;97	B4DZW6;E7EVI2;Q96DB5	.;.;RMD1_HUMAN	A	97;53;97;97;53	ENSP00000385927:G97A;ENSP00000429899:G53A;ENSP00000428661:G97A;ENSP00000409661:G97A;ENSP00000428743:G53A	ENSP00000385927:G97A	G	-	2	0	FAM82B	87569942	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.289000	0.65656	2.688000	0.91661	0.460000	0.39030	GGA		0.348	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		G	87500826	C	G	87500826	3	3	53	1	0	0	0	0	1	0	0	0	5634	855	30	4	686	4	FAM82B	8	87500826	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	25288137	87500826	58863196	27	3876											
KLHL38	340359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	124664647	124664647	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr8:124664647C>G	ENST00000325995.7	-	1	543	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	174	BACK.							p.E174Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCACAGAGCTCCTTCAGGTCG	0.557																																																1	Substitution - Missense(1)	kidney(1)											55	56	56					8																	124664647		1994	4147	6141	SO:0001583	missense	340359				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.520G>C	8.37:g.124664647C>G	ENSP00000321475:p.Glu174Gln		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669308	0.47677	.	.	ENSG00000175946	ENST00000325995	T	0.68903	-0.36	5.29	5.29	0.74685	BTB/Kelch-associated (2);	0.141194	0.64402	D	0.000005	T	0.57021	0.2025	L	0.28192	0.835	0.47698	D	0.999493	B	0.20459	0.045	B	0.20384	0.029	T	0.51108	-0.8747	10	0.32370	T	0.25	.	18.9124	0.92491	0.0:1.0:0.0:0.0	.	174	Q2WGJ6	KLH38_HUMAN	Q	174	ENSP00000321475:E174Q	ENSP00000321475:E174Q	E	-	1	0	KLHL38	124733828	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	7.739000	0.84976	2.480000	0.83734	0.491000	0.48974	GAG		0.557	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			G	124664647	C	G	124664647	3	3	53	1	0	0	0	0	1	0	0	0	8392	864	30	4	1237	4	KLHL38	8	124664647	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	37163821	124664647	21699375	28	3877											
FAM75A6	389730	broad.mit.edu	37	9	43627074	43627074	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr9:43627074T>C	ENST00000332857.6	-	4	1641	c.1613A>G	c.(1612-1614)cAc>cGc	p.H538R	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	538					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.H538R(1)									CCATTCAGGGTGCTGAGTTTC	0.478																																																1	Substitution - Missense(1)	kidney(1)											5	6	6					9																	43627074		589	1485	2074	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1613A>G	9.37:g.43627074T>C	ENSP00000329825:p.His538Arg			Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251238	0.22880	.	.	ENSG00000185775	ENST00000332857	T	0.06528	3.29	2.35	2.35	0.29111	.	0.525534	0.17575	N	0.169339	T	0.03011	0.0089	N	0.10972	0.075	0.09310	N	1	B	0.18013	0.025	B	0.20184	0.028	T	0.47018	-0.9149	10	0.13108	T	0.6	-7.5056	6.7702	0.23589	0.0:0.0:0.0:1.0	.	538	Q5VVP1	F75A6_HUMAN	R	538	ENSP00000329825:H538R	ENSP00000329825:H538R	H	-	2	0	FAM75A6	43567070	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.736000	0.04882	1.359000	0.45940	0.315000	0.21342	CAC		0.478	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		C	43627074	T	C	43627074	3	2	53	1	0	0	0	0	1	0	0	0	5624	1696	59	3	2422	3	FAM75A6	9	43627074	Missense_Mutation	SNP	T	TCGA-A3-3367-01A-02D-1421-08		43627074	97586357	29	3878											
BAT2L1	84726	hgsc.bcm.edu;ucsc.edu	37	9	134323058	134323058	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr9:134323058C>G	ENST00000357304.4	+	8	1042	c.987C>G	c.(985-987)aaC>aaG	p.N329K	PRRC2B_ENST00000458550.1_Missense_Mutation_p.N329K|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.N329K	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	329							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAAAAGAAAACAGGCTGGGAT	0.473																																																0													15	17	16					9																	134323058		1864	4084	5948	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.987C>G	9.37:g.134323058C>G	ENSP00000349856:p.Asn329Lys		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079998	0.36662	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.02369	4.32;4.63;4.32	4.52	3.62	0.41486	.	0.178323	0.25854	U	0.027866	T	0.02610	0.0079	L	0.40543	1.245	0.80722	D	1	B	0.24483	0.104	B	0.19148	0.024	T	0.30736	-0.9968	10	0.06099	T	0.92	-2.9266	11.6248	0.51138	0.0:0.912:0.0:0.088	.	329	Q5JSZ5	PRC2B_HUMAN	K	329	ENSP00000384606:N329K;ENSP00000349856:N329K;ENSP00000398853:N329K	ENSP00000349856:N329K	N	+	3	2	PRRC2B	133312879	0.970000	0.33590	0.684000	0.30055	0.894000	0.52154	2.286000	0.43496	0.885000	0.36088	0.467000	0.42956	AAC		0.473	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	134323058	C	G	134323058	3	3	53	1	0	0	0	0	1	0	0	0	1320	477	17	4	1017	4	BAT2L1	9	134323058	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	90695984	134323058	6890373	30	3879											
GBGT1	26301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136029294	136029294	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr9:136029294C>G	ENST00000372040.3	-	7	1025	c.714G>C	c.(712-714)caG>caC	p.Q238H	GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.Q221H|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_Missense_Mutation_p.S232T	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	238			Q -> P (in dbSNP:rs35366884). {ECO:0000269|Ref.4}.		glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)	p.Q238H(1)		breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CATAGGGGAACTGCTGGCGGG	0.612																																																1	Substitution - Missense(1)	kidney(1)											81	81	81					9																	136029294		2203	4300	6503	SO:0001583	missense	26301			AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.714G>C	9.37:g.136029294C>G	ENSP00000361110:p.Gln238His		A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.42|15.42	2.827753|2.827753	0.50845|0.50845	.|.	.|.	ENSG00000148288|ENSG00000148288	ENST00000372040;ENST00000540636|ENST00000372043	T;T|T	0.01272|0.22336	5.07;5.07|1.96	5.47|5.47	-1.49|-1.49	0.08718|0.08718	.|.	0.342835|.	0.30686|.	N|.	0.009087|.	T|T	0.21022|0.21022	0.0506|0.0506	L|L	0.57536|0.57536	1.79|1.79	0.22811|0.22811	N|N	0.998707|0.998707	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.12837|.	0.008;0.008|.	T|T	0.36432|0.36432	-0.9748|-0.9748	10|7	0.48119|0.87932	T|D	0.1|0	-6.752|-6.752	1.07|1.07	0.01619|0.01619	0.2278:0.3481:0.2232:0.2009|0.2278:0.3481:0.2232:0.2009	.|.	221;238|.	B7Z8S5;Q8N5D6|.	.;GBGT1_HUMAN|.	H|T	238;221|232	ENSP00000361110:Q238H;ENSP00000437663:Q221H|ENSP00000361113:S232T	ENSP00000361110:Q238H|ENSP00000361113:S232T	Q|S	-|-	3|2	2|0	GBGT1|GBGT1	135019115|135019115	0.000000|0.000000	0.05858|0.05858	0.986000|0.986000	0.45419|0.45419	0.797000|0.797000	0.45037|0.45037	-0.989000|-0.989000	0.03736|0.03736	-0.017000|-0.017000	0.14103|0.14103	-0.314000|-0.314000	0.08810|0.08810	CAG|AGT		0.612	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		G	136029294	C	G	136029294	3	3	53	1	0	0	0	0	1	0	0	0	6274	564	20	4	333	4	GBGT1	9	136029294	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	1706236	136029294	5184137	31	3880											
ATP5C1	509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	7839091	7839091	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr10:7839091G>T	ENST00000356708.7	+	3	252	c.173G>T	c.(172-174)cGa>cTa	p.R58L	ATP5C1_ENST00000335698.4_Missense_Mutation_p.R58L|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.R11L	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	58					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.R58L(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						AAATATGCCCGAGCTGAGAGA	0.403																																					Melanoma(143;1012 1820 16249 30920 33158)											1	Substitution - Missense(1)	kidney(1)											61	60	61					10																	7839091		2203	4300	6503	SO:0001583	missense	509			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.173G>T	10.37:g.7839091G>T	ENSP00000349142:p.Arg58Leu		A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723697	0.89298	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.17	4.27	0.50696	ATPase, F1 complex, gamma subunit domain (1);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	H	0.94264	3.515	0.80722	D	1	D	0.63880	0.993	P	0.62560	0.904	D	0.88817	0.3296	9	0.87932	D	0	-7.2339	13.826	0.63351	0.0744:0.0:0.9256:0.0	.	58	P36542	ATPG_HUMAN	L	58;58;11	.	ENSP00000338568:R58L	R	+	2	0	ATP5C1	7879097	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.772000	0.85439	1.196000	0.43129	-0.150000	0.13652	CGA		0.403	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		T	7839091	G	T	7839091	3	4	53	1	0	0	0	0	1	0	0	0	1149	1058	37	4	183	4	ATP5C1	10	7839091	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08		7839091	127695656	32	3881											
ARMC4	55130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	28233812	28233812	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr10:28233812G>T	ENST00000305242.5	-	11	1558	c.1466C>A	c.(1465-1467)gCc>gAc	p.A489D	ARMC4_ENST00000545014.1_Missense_Mutation_p.A14D|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.A181D	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	489					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.A489D(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATCTCTGATGGCCAACTGGCA	0.463																																																1	Substitution - Missense(1)	kidney(1)											114	107	109					10																	28233812		2203	4300	6503	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1466C>A	10.37:g.28233812G>T	ENSP00000306410:p.Ala489Asp		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	35	5.557206	0.96514	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014;ENST00000537573	T;T;T	0.49720	0.77;0.77;0.77	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.964	T	0.74147	-0.3759	10	0.49607	T	0.09	-23.7717	20.3668	0.98882	0.0:0.0:1.0:0.0	.	14;489	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	D	181;489;14;181	ENSP00000443208:A181D;ENSP00000306410:A489D;ENSP00000441076:A14D	ENSP00000306410:A489D	A	-	2	0	ARMC4	28273818	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	9.679000	0.98649	2.894000	0.99253	0.655000	0.94253	GCC		0.463	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		T	28233812	G	T	28233812	3	4	53	1	0	0	0	0	1	0	0	0	953	1203	42	4	1708	4	ARMC4	10	28233812	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08	20394721	28233812	107300935	33	3882											
JMJD1C	221037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	64936178	64936178	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr10:64936178T>A	ENST00000399262.2	-	24	7498	c.7280A>T	c.(7279-7281)cAa>cTa	p.Q2427L	JMJD1C_ENST00000402544.1_Missense_Mutation_p.Q2190L|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Q2245L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2427	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.Q2427L(1)|p.Q2190L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATACCAACTTTGGTCACGTAT	0.363																																																2	Substitution - Missense(2)	kidney(2)											132	120	123					10																	64936178		1855	4087	5942	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7280A>T	10.37:g.64936178T>A	ENSP00000382204:p.Gln2427Leu		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351460	0.82132	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.72282	-0.64;-0.64;-0.64	5.75	4.61	0.57282	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.77136	0.4086	L	0.52126	1.63	0.80722	D	1	D;D	0.60160	0.985;0.987	P;P	0.60012	0.725;0.867	T	0.78580	-0.2149	10	0.87932	D	0	-6.5814	12.796	0.57560	0.0:0.0:0.1369:0.8631	.	2427;2245	Q15652;A0T124	JHD2C_HUMAN;.	L	2427;2190;2245	ENSP00000382204:Q2427L;ENSP00000384990:Q2190L;ENSP00000444682:Q2245L	ENSP00000382204:Q2427L	Q	-	2	0	JMJD1C	64606184	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.194000	0.58393	0.982000	0.38575	0.533000	0.62120	CAA		0.363	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		A	64936178	T	A	64936178	3	1	53	1	0	0	0	0	1	0	0	0	7952	1812	63	5	354	5	JMJD1C	10	64936178	Missense_Mutation	SNP	T	TCGA-A3-3367-01A-02D-1421-08	36702366	64936178	70598569	34	3883											
CDH23	64072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73544690	73544690	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr10:73544690C>T	ENST00000224721.6	+	42	5565	c.5560C>T	c.(5560-5562)Cct>Tct	p.P1854S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1849	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.P1854S(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGACAACGACCCTGTGCTGCT	0.597																																																1	Substitution - Missense(1)	kidney(1)											93	98	96					10																	73544690		2189	4279	6468	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5560C>T	10.37:g.73544690C>T	ENSP00000224721:p.Pro1854Ser		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.216955	0.79352	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	4.35	4.35	0.52113	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87561	0.6208	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92150	0.5727	9	0.87932	D	0	.	17.224	0.86964	0.0:1.0:0.0:0.0	.	1849	Q9H251	CAD23_HUMAN	S	1854;1849;1852	.	ENSP00000224721:P1854S	P	+	1	0	CDH23	73214696	1.000000	0.71417	0.997000	0.53966	0.713000	0.41058	7.744000	0.85034	2.131000	0.65755	0.305000	0.20034	CCT		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73544690	C	T	73544690	3	4	53	1	0	0	0	0	1	0	0	0	3110	623	22	2	6056	2	CDH23	10	73544690	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	8608512	73544690	61990057	35	3884											
ABCC8	6833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	17418564	17418564	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:17418564C>G	ENST00000389817.3	-	33	4086	c.4018G>C	c.(4018-4020)Gac>Cac	p.D1340H	ABCC8_ENST00000302539.4_Missense_Mutation_p.D1341H			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1340					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.D1340H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TTCCCTTGGTCTGGCCAGTTC	0.622																																																1	Substitution - Missense(1)	kidney(1)											130	111	117					11																	17418564		2200	4293	6493	SO:0001583	missense	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4018G>C	11.37:g.17418564C>G	ENSP00000374467:p.Asp1340His		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.35|17.35	3.367282|3.367282	0.61513|0.61513	.|.	.|.	ENSG00000006071|ENSG00000006071	ENST00000389817;ENST00000302539|ENST00000528374	D;D|.	0.90324|.	-2.65;-2.65|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.277660|.	0.37955|.	N|.	0.001871|.	T|T	0.52821|0.52821	0.1758|0.1758	N|N	0.17674|0.17674	0.51|0.51	0.44862|0.44862	D|D	0.997872|0.997872	B|.	0.33073|.	0.396|.	B|.	0.36534|.	0.227|.	T|T	0.49021|0.49021	-0.8982|-0.8982	10|5	0.36615|.	T|.	0.2|.	.|.	18.2867|18.2867	0.90117|0.90117	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1340|.	Q09428|.	ABCC8_HUMAN|.	H|T	1340;1341|167	ENSP00000374467:D1340H;ENSP00000303960:D1341H|.	ENSP00000303960:D1341H|.	D|R	-|-	1|2	0|0	ABCC8|ABCC8	17375140|17375140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	5.240000|5.240000	0.65378|0.65378	2.386000|2.386000	0.81285|0.81285	0.555000|0.555000	0.69702|0.69702	GAC|AGA		0.622	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		G	17418564	C	G	17418564	3	3	53	1	0	0	0	0	1	0	0	0	58	913	32	4	755	4	ABCC8	11	17418564	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08		17418564	117587952	36	3885											
CAT	847	hgsc.bcm.edu;ucsc.edu	37	11	34489943	34489946	+	Splice_Site	DEL	GTGA	GTGA	-	rs373595532		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	GTGA	GTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:34489943_34489946delGTGA	ENST00000241052.4	+	11	1523		c.e11+1			NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase						aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GAAGAAAGCGGTGAGTCTTTGTAA	0.461																																																0																																										SO:0001630	splice_region_variant	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1434+1GTGA>-	11.37:g.34489943_34489946delGTGA			A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Frame_Shift_Del	DEL	ENST00000241052.4	37	CCDS7891.1																																																																																				0.461	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752	Intron	-	34489946	GTGA	-	34489943	8	5	53	1	0	1	0	1	0	0	1	0	2688	1275	44	0	1477	0	CAT	11	34489943	Splice_Site	DEL	GTGA	TCGA-A3-3367-01A-02D-1421-08	17071379	34489943	100516573	37	3886											
FNBP4	23360	hgsc.bcm.edu	37	11	47774573	47774573	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:47774573G>A	ENST00000263773.5	-	4	544	c.532C>T	c.(532-534)Cca>Tca	p.P178S	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	178						nucleus (GO:0005634)		p.P178S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCTTCCTTTGGCTCTGGTCGA	0.488																																																1	Substitution - Missense(1)	kidney(1)											130	127	128					11																	47774573		1965	4151	6116	SO:0001583	missense	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.532C>T	11.37:g.47774573G>A	ENSP00000263773:p.Pro178Ser		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827760	0.90955	.	.	ENSG00000109920	ENST00000263773	T	0.33865	1.39	5.85	5.85	0.93711	.	0.236087	0.43260	D	0.000599	T	0.56001	0.1956	M	0.66939	2.045	0.52099	D	0.999944	D	0.60575	0.988	P	0.57720	0.826	T	0.50600	-0.8809	10	0.41790	T	0.15	-13.2611	19.76	0.96311	0.0:0.0:1.0:0.0	.	178	Q8N3X1	FNBP4_HUMAN	S	178	ENSP00000263773:P178S	ENSP00000263773:P178S	P	-	1	0	FNBP4	47731149	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	4.688000	0.61715	2.753000	0.94483	0.655000	0.94253	CCA		0.488	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			A	47774573	G	A	47774573	3	1	53	1	0	0	0	0	1	0	0	0	5969	1203	42	2	2577	2	FNBP4	11	47774573	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08	13284630	47774573	87231943	38	3887											
GANAB	23193	broad.mit.edu;ucsc.edu	37	11	62396249	62396249	+	Silent	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:62396249A>G	ENST00000356638.3	-	17	2188	c.2172T>C	c.(2170-2172)ccT>ccC	p.P724P	GANAB_ENST00000346178.4_Silent_p.P746P|GANAB_ENST00000540933.1_Silent_p.P627P|GANAB_ENST00000534779.1_Silent_p.P632P	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	724					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.P724P(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	ACCTCATGACAGGAATGCCTT	0.527																																					Melanoma(23;1005 1074 15747 18937)											1	Substitution - coding silent(1)	kidney(1)											142	133	136					11																	62396249		2202	4299	6501	SO:0001819	synonymous_variant	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2172T>C	11.37:g.62396249A>G			A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	CCDS8026.1																																																																																				0.527	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		G	62396249	A	G	62396249	2	3	53	1	0	0	0	0	0	0	0	1	6235	175	7	3		3	GANAB	11	62396249	Silent	SNP	A	TCGA-A3-3367-01A-02D-1421-08	14621676	62396249	72610267	39	3888											
SLC22A8	9376	hgsc.bcm.edu;ucsc.edu	37	11	62762194	62762195	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:62762194_62762195insA	ENST00000336232.2	-	8	1170_1171	c.1035_1036insT	c.(1033-1038)gctatgfs	p.M346fs	SLC22A8_ENST00000545207.1_Frame_Shift_Ins_p.M255fs|SLC22A8_ENST00000311438.8_Frame_Shift_Ins_p.M346fs|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000535878.1_Frame_Shift_Ins_p.M223fs|SLC22A8_ENST00000430500.2_Frame_Shift_Ins_p.M346fs	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	346					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCCACACCCATAGCCAAACTAT	0.51																																																0																																										SO:0001589	frameshift_variant	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1036dupT	11.37:g.62762195_62762195dupA	ENSP00000337335:p.Met346fs		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Frame_Shift_Ins	INS	ENST00000336232.2	37	CCDS8042.1																																																																																				0.51	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		A	62762195	-	A	62762194	7	5	53	1	0	1	1	0	0	0	0	0	14466	1406	49	0	608	0	SLC22A8	11	62762194	Frame_Shift_Ins	INS	-	TCGA-A3-3367-01A-02D-1421-08	365945	62762194	72244322	40	3889											
ANO1	55107	broad.mit.edu;ucsc.edu	37	11	70017113	70017113	+	Missense_Mutation	SNP	G	G	A	rs376371042		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:70017113G>A	ENST00000355303.5	+	22	2623	c.2318G>A	c.(2317-2319)cGa>cAa	p.R773Q	ANO1_ENST00000398543.2_Missense_Mutation_p.R627Q|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000530676.1_Missense_Mutation_p.R627Q|ANO1_ENST00000538023.1_Missense_Mutation_p.R773Q|ANO1_ENST00000531349.1_Missense_Mutation_p.R482Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	773					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.R773Q(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ACTGAGCTCCGAAGGCCGGTA	0.612																																																2	Substitution - Missense(2)	kidney(2)						G	GLN/ARG	1,4005		0,1,2002	43	45	45		2318	3.5	0.9	11		45	0,8362		0,0,4181	no	missense	ANO1	NM_018043.5	43	0,1,6183	AA,AG,GG		0.0,0.025,0.0081	probably-damaging	773/987	70017113	1,12367	2003	4181	6184	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2318G>A	11.37:g.70017113G>A	ENSP00000347454:p.Arg773Gln		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940097	0.92526	2.5E-4	0.0	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	4.39	3.47	0.39725	.	0.119806	0.51477	N	0.000086	T	0.76550	0.4003	M	0.76574	2.34	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77109	-0.2709	9	.	.	.	.	12.4533	0.55688	0.0824:0.0:0.9176:0.0	.	482;773	E9PNA7;Q5XXA6	.;ANO1_HUMAN	Q	773;773;627;531;627;482;100	ENSP00000347454:R773Q;ENSP00000444689:R773Q;ENSP00000381551:R627Q;ENSP00000435797:R627Q;ENSP00000432843:R482Q	.	R	+	2	0	ANO1	69694761	0.995000	0.38212	0.915000	0.36163	0.907000	0.53573	6.476000	0.73587	0.986000	0.38683	0.462000	0.41574	CGA		0.612	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		A	70017113	G	A	70017113	3	1	53	1	0	0	0	0	1	0	0	0	695	1058	37	1	2404	1	ANO1	11	70017113	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08	7254919	70017113	64989403	41	3890											
ANO1	55107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	70031793	70031793	+	Missense_Mutation	SNP	G	G	A	rs374804618		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:70031793G>A	ENST00000355303.5	+	25	2991	c.2686G>A	c.(2686-2688)Gtc>Atc	p.V896I	ANO1_ENST00000398543.2_Missense_Mutation_p.V750I|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000530676.1_Missense_Mutation_p.V750I|ANO1_ENST00000538023.1_Missense_Mutation_p.V896I|ANO1_ENST00000531349.1_Missense_Mutation_p.V605I|ANO1-AS1_ENST00000524987.1_RNA	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	896					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.V896I(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GTTTGTCATCGTCTTCCAGGT	0.557																																																2	Substitution - Missense(2)	kidney(2)						G	ILE/VAL	0,3914		0,0,1957	79	89	86		2686	5.3	1	11		86	1,8297		0,1,4148	no	missense	ANO1	NM_018043.5	29	0,1,6105	AA,AG,GG		0.0121,0.0,0.0082	benign	896/987	70031793	1,12211	1957	4149	6106	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2686G>A	11.37:g.70031793G>A	ENSP00000347454:p.Val896Ile		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	8.653	0.898612	0.17686	0.0	1.21E-4	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	N	0.11154	0.105	0.80722	D	1	B;B	0.32396	0.17;0.369	B;B	0.28465	0.053;0.09	T	0.37337	-0.9710	9	.	.	.	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	605;896	E9PNA7;Q5XXA6	.;ANO1_HUMAN	I	896;896;750;654;750;605;223	ENSP00000347454:V896I;ENSP00000444689:V896I;ENSP00000381551:V750I;ENSP00000435797:V750I;ENSP00000432843:V605I	.	V	+	1	0	ANO1	69709441	1.000000	0.71417	0.989000	0.46669	0.724000	0.41520	4.823000	0.62694	2.460000	0.83146	0.655000	0.94253	GTC		0.557	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		A	70031793	G	A	70031793	3	1	53	1	0	0	0	0	1	0	0	0	695	1145	40	1	2784	1	ANO1	11	70031793	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08	14680	70031793	64974723	42	3891											
MAP6	4135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	75298336	75298336	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:75298336T>C	ENST00000304771.3	-	4	2960	c.2210A>G	c.(2209-2211)aAt>aGt	p.N737S	MAP6_ENST00000526740.1_Missense_Mutation_p.N408S|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	737	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.N737S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACGACCTTGATTCTTTGGAGG	0.502																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)											1	Substitution - Missense(1)	kidney(1)											156	158	157					11																	75298336		2200	4293	6493	SO:0001583	missense	4135			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.2210A>G	11.37:g.75298336T>C	ENSP00000307093:p.Asn737Ser		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	T	1.213	-0.629041	0.03610	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.45276	0.9	4.46	-1.32	0.09201	.	0.980175	0.08347	N	0.959938	T	0.25865	0.0630	L	0.48642	1.525	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.28073	-1.0055	10	0.09338	T	0.73	0.0803	0.8805	0.01233	0.1577:0.1893:0.3248:0.3283	.	737	Q96JE9	MAP6_HUMAN	S	737;408;408	ENSP00000307093:N737S	ENSP00000307093:N737S	N	-	2	0	MAP6	74975984	0.000000	0.05858	0.003000	0.11579	0.629000	0.37895	-0.769000	0.04710	-0.019000	0.14055	0.533000	0.62120	AAT		0.502	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		C	75298336	T	C	75298336	3	2	53	1	0	0	0	0	1	0	0	0	9266	1493	52	3	235	3	MAP6	11	75298336	Missense_Mutation	SNP	T	TCGA-A3-3367-01A-02D-1421-08	5266543	75298336	59708180	43	3892											
EXPH5	23086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108381263	108381263	+	Silent	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:108381263G>A	ENST00000265843.4	-	6	5081	c.4971C>T	c.(4969-4971)agC>agT	p.S1657S	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Silent_p.S1469S|EXPH5_ENST00000428840.1_Silent_p.S1581S|EXPH5_ENST00000525344.1_Silent_p.S1650S	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1657					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.S1657S(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CACTCAACCTGCTTTCGCCAA	0.488																																																1	Substitution - coding silent(1)	kidney(1)											177	175	175					11																	108381263		2201	4298	6499	SO:0001819	synonymous_variant	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4971C>T	11.37:g.108381263G>A			Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	CCDS8341.1																																																																																				0.488	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		A	108381263	G	A	108381263	2	1	53	1	0	0	0	0	0	0	0	1	5324	1310	46	2		2	EXPH5	11	108381263	Silent	SNP	G	TCGA-A3-3367-01A-02D-1421-08	33082927	108381263	26625253	44	3893											
LAYN	143903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111431066	111431066	+	Silent	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr11:111431066G>A	ENST00000375615.3	+	8	1217	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000375614.2_Silent_p.V336V|LAYN_ENST00000436913.2_Silent_p.V191V	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	344	3 X 5 AA repeats of E-S-G-X-V.|Interaction with NF2. {ECO:0000250}.|Interaction with TLN1. {ECO:0000250}.			V -> M (in Ref. 5; AAH25407). {ECO:0000305}.		cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.V336V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	GTGGGTTTGTGACTCTGGTGA	0.478																																					Ovarian(17;551 586 12136 22082 22900)											1	Substitution - coding silent(1)	kidney(1)											149	129	136					11																	111431066		2201	4297	6498	SO:0001819	synonymous_variant	143903				CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.1032G>A	11.37:g.111431066G>A			A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Silent	SNP	ENST00000375615.3	37	CCDS58178.1																																																																																				0.478	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834		A	111431066	G	A	111431066	2	1	53	1	0	0	0	0	0	0	0	1	8651	1277	45	2		2	LAYN	11	111431066	Silent	SNP	G	TCGA-A3-3367-01A-02D-1421-08	3049803	111431066	23575450	45	3894											
GPHN	10243	hgsc.bcm.edu;ucsc.edu	37	14	67390942	67390943	+	Intron	INS	-	-	C			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr14:67390942_67390943insC	ENST00000315266.5	+	7	1850				GPHN_ENST00000459628.1_Frame_Shift_Ins_p.M237fs|GPHN_ENST00000543237.1_Intron|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000478722.1_Frame_Shift_Ins_p.M255fs|GPHN_ENST00000305960.9_Intron	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin						establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CCTGCTGTTGTCATGGCACACG	0.411			T	MLL	AL																																		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0																																										SO:0001627	intron_variant	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.729+1287->C	14.37:g.67390943_67390943dupC			Q9H4E9|Q9P2G2	Frame_Shift_Ins	INS	ENST00000315266.5	37	CCDS32103.1																																																																																				0.411	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		C	67390943	-	C	67390942	6	5	53	0	1	1	1	0	0	0	0	0	6612	1667	58	0		0	GPHN	14	67390942	Intron	INS	-	TCGA-A3-3367-01A-02D-1421-08		67390942	39958598	46	3895											
PGF	5228	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75416059	75416059	+	Splice_Site	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr14:75416059C>T	ENST00000405431.2	-	3	315		c.e3+1		PGF_ENST00000553716.1_Splice_Site|PGF_ENST00000238607.6_Splice_Site|PGF_ENST00000555567.1_Splice_Site			P49763	PLGF_HUMAN	placental growth factor						branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.?(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	TATGGACCTACCTGCATGGTG	0.627																																					GBM(127;389 2301 5452 48547)											1	Unknown(1)	kidney(1)											87	79	82					14																	75416059		2203	4300	6503	SO:0001630	splice_region_variant	5228			S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"placenta growth factor"	601121	"placental growth factor-like", "placental growth factor, vascular endothelial growth factor-related protein"	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.315+1G>A	14.37:g.75416059C>T			Q07101|Q9BV78|Q9Y6S8	Splice_Site	SNP	ENST00000405431.2	37	CCDS9835.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977961	0.74360	.	.	ENSG00000119630	ENST00000555567;ENST00000553716;ENST00000238607;ENST00000405431	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.287	0.82725	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGF	74485812	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.651000	0.83577	2.157000	0.67596	0.561000	0.74099	.		0.627	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	NM_002632	Intron	T	75416059	C	T	75416059	5	4	53	1	0	0	0	0	0	0	1	0	11790	521	18	2	216	2	PGF	14	75416059	Splice_Site	SNP	C	TCGA-A3-3367-01A-02D-1421-08	8025117	75416059	31933481	47	3896											
ONECUT1	3175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	53081592	53081592	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr15:53081592G>T	ENST00000305901.5	-	1	617	c.490C>A	c.(490-492)Ctc>Atc	p.L164I	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	164					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L164I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GGGGTATAGAGGTTATTCATG	0.657																																																1	Substitution - Missense(1)	kidney(1)											50	63	58					15																	53081592		2194	4293	6487	SO:0001583	missense	3175			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.490C>A	15.37:g.53081592G>T	ENSP00000302630:p.Leu164Ile		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636652	0.47049	.	.	ENSG00000169856	ENST00000305901	T	0.50548	0.74	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000001	T	0.66645	0.2810	M	0.79475	2.455	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.70854	-0.4759	10	0.52906	T	0.07	-20.8087	15.5436	0.76077	0.0:0.0:1.0:0.0	.	164	Q9UBC0	HNF6_HUMAN	I	164	ENSP00000302630:L164I	ENSP00000302630:L164I	L	-	1	0	ONECUT1	50868884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.506000	0.81665	2.216000	0.71823	0.505000	0.49811	CTC		0.657	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			T	53081592	G	T	53081592	3	4	53	1	0	0	0	0	1	0	0	0	10870	1000	35	4	915	4	ONECUT1	15	53081592	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08		53081592	49449800	48	3897											
SH2D7	646892	broad.mit.edu	37	15	78393441	78393441	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr15:78393441G>T	ENST00000328828.5	+	5	846	c.846G>T	c.(844-846)agG>agT	p.R282S	SH2D7_ENST00000409568.2_Missense_Mutation_p.R146S	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	282								p.R282S(1)|p.R146S(1)		endometrium(2)|kidney(2)|lung(3)	7						AGGCCCAAAGGAGACTCTCAG	0.647																																																2	Substitution - Missense(2)	kidney(2)											23	26	25					15																	78393441		1908	4115	6023	SO:0001583	missense	646892				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.846G>T	15.37:g.78393441G>T	ENSP00000327846:p.Arg282Ser			Missense_Mutation	SNP	ENST00000328828.5	37	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322407	0.60634	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.37752	1.18;1.33	4.96	0.875	0.19130	.	0.599152	0.14111	N	0.340681	T	0.20333	0.0489	L	0.27053	0.805	0.09310	N	1	P	0.37781	0.608	B	0.32864	0.154	T	0.09487	-1.0672	10	0.33141	T	0.24	-5.6774	7.82	0.29282	0.3695:0.0:0.6305:0.0	.	282	A6NKC9	SH2D7_HUMAN	S	146;282	ENSP00000386676:R146S;ENSP00000327846:R282S	ENSP00000327846:R282S	R	+	3	2	SH2D7	76180496	0.049000	0.20398	0.002000	0.10522	0.922000	0.55478	0.973000	0.29422	0.226000	0.20979	0.561000	0.74099	AGG		0.647	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404		T	78393441	G	T	78393441	3	4	53	1	0	0	0	0	1	0	0	0	14245	1165	41	4	864	4	SH2D7	15	78393441	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08	25311849	78393441	24137951	49	3898											
NMRAL1	57407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4511892	4511892	+	Silent	SNP	G	G	A	rs1043380		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr16:4511892G>A	ENST00000574733.1	-	6	1518	c.789C>T	c.(787-789)ttC>ttT	p.F263F	NMRAL1_ENST00000572391.1_5'Flank|NMRAL1_ENST00000404295.3_Silent_p.F263F|NMRAL1_ENST00000283429.6_Silent_p.F263F|NMRAL1_ENST00000574425.1_Silent_p.F263F			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	263						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F263F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						TCAGGGCATAGAAACGGAACA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											152	149	150					16																	4511892		2197	4300	6497	SO:0001819	synonymous_variant	57407			AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"Short chain dehydrogenase/reductase superfamily / Atypical members"	24987	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 48A, member 1"					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.789C>T	16.37:g.4511892G>A				Silent	SNP	ENST00000574733.1	37	CCDS10516.1																																																																																				0.602	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		A	4511892	G	A	4511892	2	1	53	1	0	0	0	0	0	0	0	1	10503	933	33	2		2	NMRAL1	16	4511892	Silent	SNP	G	TCGA-A3-3367-01A-02D-1421-08		4511892	85842861	50	3899											
DNAH3	55567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21147728	21147728	+	Missense_Mutation	SNP	G	G	A	rs541602132		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr16:21147728G>A	ENST00000261383.3	-	6	802	c.803C>T	c.(802-804)aCg>aTg	p.T268M	DNAH3_ENST00000415178.1_Missense_Mutation_p.T268M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	268	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.T268M(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAGGGACTCGTCAGCAGCGT	0.493																																																2	Substitution - Missense(2)	kidney(2)											164	151	156					16																	21147728		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.803C>T	16.37:g.21147728G>A	ENSP00000261383:p.Thr268Met		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	4.862	0.160318	0.09287	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.23147	1.92;2.08	5.53	-0.757	0.11054	.	0.969729	0.08520	N	0.933677	T	0.14917	0.0360	L	0.33485	1.01	0.09310	N	1	B;B	0.27380	0.025;0.177	B;B	0.15052	0.004;0.012	T	0.29027	-1.0025	10	0.49607	T	0.09	.	2.5698	0.04791	0.1525:0.102:0.3877:0.3578	.	268;239	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	M	268;268;239	ENSP00000261383:T268M;ENSP00000394245:T268M	ENSP00000261383:T268M	T	-	2	0	DNAH3	21055229	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.687000	0.25407	0.275000	0.22094	0.655000	0.94253	ACG		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		A	21147728	G	A	21147728	3	1	53	1	0	0	0	0	1	0	0	0	4605	1145	40	1	11774	1	DNAH3	16	21147728	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08	16635836	21147728	69207025	51	3900											
CHRNB1	1140	hgsc.bcm.edu;ucsc.edu	37	17	7350241	7350245	+	Frame_Shift_Del	DEL	TGACG	TGACG	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	TGACG	TGACG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr17:7350241_7350245delTGACG	ENST00000306071.2	+	4	400_404	c.333_337delTGACG	c.(331-339)cctgacgtgfs	p.DV112fs	RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000576360.1_Frame_Shift_Del_p.DV40fs|CHRNB1_ENST00000536404.2_Frame_Shift_Del_p.DV40fs|RP11-104H15.7_ENST00000575310.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	112					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TGTGGCTCCCTGACGTGGTGCTACT	0.663																																																0																																										SO:0001589	frameshift_variant	1140			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.333_337delTGACG	17.37:g.7350241_7350245delTGACG	ENSP00000304290:p.Asp112fs		B7Z5H1|Q8IZ46|Q96FB8	Frame_Shift_Del	DEL	ENST00000306071.2	37	CCDS11106.1																																																																																				0.663	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			-	7350245	TGACG	-	7350241	7	5	53	1	0	1	0	1	0	0	0	0	3392	1567	55	0	347	0	CHRNB1	17	7350241	Frame_Shift_Del	DEL	TGACG	TCGA-A3-3367-01A-02D-1421-08		7350241	73844969	52	3901											
ALOX15B	247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7942501	7942501	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr17:7942501A>G	ENST00000380183.4	+	1	167	c.28A>G	c.(28-30)Acc>Gcc	p.T10A	ALOX15B_ENST00000380173.2_Missense_Mutation_p.T10A|ALOX15B_ENST00000573359.1_Missense_Mutation_p.T10A|ALOX15B_ENST00000572022.1_Missense_Mutation_p.T10A	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	10	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)	p.T10A(1)		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						CAGGGTGTCCACCGGAGAAGC	0.667																																																1	Substitution - Missense(1)	kidney(1)											60	63	62					17																	7942501		2203	4300	6503	SO:0001583	missense	247			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.28A>G	17.37:g.7942501A>G	ENSP00000369530:p.Thr10Ala		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452758	0.84209	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.80909	-1.43;-1.43	4.09	4.09	0.47781	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.85682	U	0.000000	D	0.90239	0.6948	M	0.88979	2.995	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91769	0.5426	10	0.87932	D	0	-25.0281	12.3363	0.55069	1.0:0.0:0.0:0.0	.	10;10;10;10	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	A	10	ENSP00000369520:T10A;ENSP00000369530:T10A	ENSP00000344337:T10A	T	+	1	0	ALOX15B	7883226	0.999000	0.42202	0.940000	0.37924	0.144000	0.21451	6.840000	0.75369	1.598000	0.50083	0.477000	0.44152	ACC		0.667	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			G	7942501	A	G	7942501	3	3	53	1	0	0	0	0	1	0	0	0	539	159	6	3	30	3	ALOX15B	17	7942501	Missense_Mutation	SNP	A	TCGA-A3-3367-01A-02D-1421-08	592260	7942501	73252709	53	3902											
PIRT	644139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10728814	10728814	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr17:10728814T>A	ENST00000580256.2	-	2	787	c.149A>T	c.(148-150)gAa>gTa	p.E50V		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	50						integral component of membrane (GO:0016021)		p.E50V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GCGGTAGATTTCCCAGTTACT	0.597																																																1	Substitution - Missense(1)	kidney(1)											54	57	56					17																	10728814		2058	4185	6243	SO:0001583	missense	644139			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"phosphoinositide-interacting regulator of TRPV1"	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.149A>T	17.37:g.10728814T>A	ENSP00000462046:p.Glu50Val		B7Z648	Missense_Mutation	SNP	ENST00000580256.2	37	CCDS45614.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583976	0.86748	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.62417	0.2426	N	0.24115	0.695	0.38949	D	0.95831	D	0.76494	0.999	D	0.68943	0.961	T	0.68557	-0.5377	8	0.72032	D	0.01	-20.0766	13.5458	0.61702	0.0:0.0:0.0:1.0	.	50	P0C851	PIRT_HUMAN	V	50	.	ENSP00000408936:E50V	E	-	2	0	PIRT	10669539	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.335000	0.72949	2.291000	0.77112	0.533000	0.62120	GAA		0.597	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2	NM_001101387		A	10728814	T	A	10728814	3	1	53	1	0	0	0	0	1	0	0	0	11947	1783	62	5	268	5	PIRT	17	10728814	Missense_Mutation	SNP	T	TCGA-A3-3367-01A-02D-1421-08	2786313	10728814	70466396	54	3903											
AOC3	8639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41004871	41004871	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr17:41004871C>A	ENST00000308423.2	+	1	1671	c.1511C>A	c.(1510-1512)aCt>aAt	p.T504N	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	504					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.T504N(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TTTGGTGCTACTGGGAAGTAC	0.537																																					NSCLC(3;192 220 10664 11501 16477)											1	Substitution - Missense(1)	kidney(1)											94	82	86					17																	41004871		2203	4300	6503	SO:0001583	missense	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1511C>A	17.37:g.41004871C>A	ENSP00000312326:p.Thr504Asn		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	6.418	0.445322	0.12164	.	.	ENSG00000131471	ENST00000308423	T	0.03524	3.9	5.26	1.58	0.23477	Copper amine oxidase, C-terminal (3);	0.499872	0.17942	U	0.156813	T	0.01353	0.0044	N	0.00926	-1.1	0.54753	D	0.999984	B	0.02656	0.0	B	0.06405	0.002	T	0.53599	-0.8416	10	0.21540	T	0.41	.	10.1982	0.43067	0.1119:0.3186:0.5694:0.0	.	504	Q16853	AOC3_HUMAN	N	504	ENSP00000312326:T504N	ENSP00000312326:T504N	T	+	2	0	AOC3	38258397	0.997000	0.39634	0.099000	0.21106	0.121000	0.20230	2.948000	0.49066	0.660000	0.30964	0.655000	0.94253	ACT		0.537	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		A	41004871	C	A	41004871	3	1	53	1	0	0	0	0	1	0	0	0	728	565	20	4	1513	4	AOC3	17	41004871	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	30276057	41004871	40190339	55	3904											
DBF4B	80174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42828502	42828502	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr17:42828502G>A	ENST00000315005.3	+	14	1867	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	577					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.A577T(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GTGTACCCTTGCCTTCCCCTC	0.562																																																1	Substitution - Missense(1)	kidney(1)											120	102	108					17																	42828502		2203	4300	6503	SO:0001583	missense	80174			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1729G>A	17.37:g.42828502G>A	ENSP00000323663:p.Ala577Thr		D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266502	0.40095	.	.	ENSG00000161692	ENST00000315005	T	0.54675	0.56	1.94	-1.36	0.09085	.	1.345490	0.06217	U	0.685981	T	0.27524	0.0676	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.14117	-1.0484	9	.	.	.	.	5.0654	0.14580	0.5226:0.0:0.4774:0.0	.	577	Q8NFT6	DBF4B_HUMAN	T	577	ENSP00000323663:A577T	.	A	+	1	0	DBF4B	40184028	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-0.103000	0.10940	-0.315000	0.08703	0.313000	0.20887	GCC		0.562	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		A	42828502	G	A	42828502	3	1	53	1	0	0	0	0	1	0	0	0	4251	1319	46	2	1828	2	DBF4B	17	42828502	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08	1823631	42828502	38366708	56	3905											
ROCK1	6093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	18549140	18549140	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr18:18549140T>G	ENST00000399799.2	-	24	3790	c.2850A>C	c.(2848-2850)aaA>aaC	p.K950N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	950	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K950N(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTTCAATATCTTTGGTTAGCA	0.338																																																1	Substitution - Missense(1)	kidney(1)											158	151	153					18																	18549140		2203	4299	6502	SO:0001583	missense	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2850A>C	18.37:g.18549140T>G	ENSP00000382697:p.Lys950Asn		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291818	0.59976	.	.	ENSG00000067900	ENST00000399799	T	0.14893	2.47	5.45	3.05	0.35203	Rho Binding (2);	0.047041	0.85682	D	0.000000	T	0.16981	0.0408	L	0.60845	1.875	0.80722	D	1	B	0.28026	0.198	B	0.32090	0.14	T	0.03875	-1.0996	10	0.32370	T	0.25	.	7.2885	0.26352	0.1295:0.0697:0.0:0.8008	.	950	Q13464	ROCK1_HUMAN	N	950	ENSP00000382697:K950N	ENSP00000382697:K950N	K	-	3	2	ROCK1	16803138	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.794000	0.38774	0.498000	0.27948	0.533000	0.62120	AAA		0.338	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		G	18549140	T	G	18549140	3	3	53	1	0	0	0	0	1	0	0	0	13523	1606	56	5	1254	5	ROCK1	18	18549140	Missense_Mutation	SNP	T	TCGA-A3-3367-01A-02D-1421-08		18549140	59528108	57	3906											
DSG1	1828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	28898303	28898303	+	Missense_Mutation	SNP	A	A	G	rs141269991	byFrequency	TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr18:28898303A>G	ENST00000257192.4	+	1	252	c.40A>G	c.(40-42)Att>Gtt	p.I14V		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	14					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.I14V(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AATGCTGTTCATTTTTCTGGT	0.378																																																1	Substitution - Missense(1)	kidney(1)											189	168	175					18																	28898303		2203	4300	6503	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.40A>G	18.37:g.28898303A>G	ENSP00000257192:p.Ile14Val		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597595	0.28445	.	.	ENSG00000134760	ENST00000257192	T	0.57273	0.41	5.94	-1.08	0.09936	.	0.802559	0.11300	N	0.578266	T	0.42698	0.1214	L	0.46157	1.445	0.28970	N	0.889273	B	0.15473	0.013	B	0.17098	0.017	T	0.38351	-0.9665	10	0.49607	T	0.09	.	8.6859	0.34236	0.4185:0.468:0.1135:0.0	.	14	Q02413	DSG1_HUMAN	V	14	ENSP00000257192:I14V	ENSP00000257192:I14V	I	+	1	0	DSG1	27152301	0.980000	0.34600	0.001000	0.08648	0.906000	0.53458	0.490000	0.22403	-0.384000	0.07845	-0.323000	0.08544	ATT		0.378	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		G	28898303	A	G	28898303	3	3	53	1	0	0	0	0	1	0	0	0	4778	217	8	3	42	3	DSG1	18	28898303	Missense_Mutation	SNP	A	TCGA-A3-3367-01A-02D-1421-08	10349163	28898303	49178945	58	3907											
CDH7	1005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	63547734	63547734	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr18:63547734T>A	ENST00000397968.2	+	12	2388	c.1962T>A	c.(1960-1962)gaT>gaA	p.D654E	CDH7_ENST00000323011.3_Missense_Mutation_p.D654E	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	654					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D654E(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGAGATACGATGACGAGGGCG	0.493																																																2	Substitution - Missense(2)	kidney(2)											70	72	71					18																	63547734		2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1962T>A	18.37:g.63547734T>A	ENSP00000381058:p.Asp654Glu		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221641	0.39300	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.61040	0.14;0.14	5.61	-8.64	0.00874	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	M	0.66506	2.035	0.50039	D	0.999845	D	0.89917	1.0	D	0.87578	0.998	T	0.80636	-0.1294	10	0.87932	D	0	.	16.3149	0.82915	0.0:0.5634:0.0:0.4366	.	654	Q9ULB5	CADH7_HUMAN	E	654	ENSP00000319166:D654E;ENSP00000381058:D654E	ENSP00000319166:D654E	D	+	3	2	CDH7	61698714	0.551000	0.26497	0.012000	0.15200	0.010000	0.07245	-0.188000	0.09642	-2.128000	0.00818	-1.027000	0.02421	GAT		0.493	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		A	63547734	T	A	63547734	3	1	53	1	0	0	0	0	1	0	0	0	3117	1461	51	5	2004	5	CDH7	18	63547734	Missense_Mutation	SNP	T	TCGA-A3-3367-01A-02D-1421-08	34649431	63547734	14529514	59	3908											
HMHA1	23526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1074198	1074198	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:1074198A>T	ENST00000313093.2	+	7	1117	c.886A>T	c.(886-888)Atg>Ttg	p.M296L	HMHA1_ENST00000543365.1_Missense_Mutation_p.M179L|HMHA1_ENST00000539243.2_Missense_Mutation_p.M312L|HMHA1_ENST00000536472.1_Missense_Mutation_p.M136L|HMHA1_ENST00000590214.1_Missense_Mutation_p.M323L|HMHA1_ENST00000586866.1_Missense_Mutation_p.M300L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	296					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.M296L(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAAGTACATGAAGGACCT	0.642																																																1	Substitution - Missense(1)	kidney(1)											76	63	67					19																	1074198		2203	4300	6503	SO:0001583	missense	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.886A>T	19.37:g.1074198A>T	ENSP00000316772:p.Met296Leu		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	A	7.281	0.609044	0.14066	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	4.3	4.3	0.51218	Fps/Fes/Fer/CIP4 homology (1);	0.106321	0.64402	D	0.000011	T	0.24661	0.0598	L	0.33485	1.01	0.35485	D	0.79849	B;B;B;B	0.15930	0.012;0.015;0.001;0.009	B;B;B;B	0.12156	0.006;0.007;0.003;0.003	T	0.21586	-1.0241	10	0.21014	T	0.42	-44.1769	8.7552	0.34641	0.8086:0.1914:0.0:0.0	.	136;312;179;296	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	L	312;296;296;136;290;179	ENSP00000439601:M312L;ENSP00000316772:M296L;ENSP00000445109:M136L;ENSP00000438979:M179L	ENSP00000316772:M296L	M	+	1	0	HMHA1	1025198	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.356000	0.66052	1.577000	0.49804	0.402000	0.26972	ATG		0.642	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			T	1074198	A	T	1074198	3	4	53	1	0	0	0	0	1	0	0	0	7242	217	8	5	912	5	HMHA1	19	1074198	Missense_Mutation	SNP	A	TCGA-A3-3367-01A-02D-1421-08		1074198	58054785	60	3909											
ZNF333	84449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14829357	14829357	+	Silent	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:14829357C>T	ENST00000292530.6	+	12	1309	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	ZNF333_ENST00000536363.1_Silent_p.S297S|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S406S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TCAAATATTCCTCGAATCTCC	0.453																																					NSCLC(60;75 1281 16985 25154 29885)											1	Substitution - coding silent(1)	kidney(1)											55	53	54					19																	14829357		2203	4300	6503	SO:0001819	synonymous_variant	84449				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1218C>T	19.37:g.14829357C>T			Q6P2E6|Q86WS6|Q8TDL0	Silent	SNP	ENST00000292530.6	37	CCDS12316.1																																																																																				0.453	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		T	14829357	C	T	14829357	2	4	53	1	0	0	0	0	0	0	0	1	17855	668	24	2		2	ZNF333	19	14829357	Silent	SNP	C	TCGA-A3-3367-01A-02D-1421-08	13755159	14829357	44299626	61	3910											
NDUFA13	51079	broad.mit.edu	37	19	19627139	19627139	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:19627139C>T	ENST00000507754.4	+	1	576	c.92C>T	c.(91-93)tCg>tTg	p.S31L	NDUFA13_ENST00000428459.2_Missense_Mutation_p.S31L|NDUFA13_ENST00000512771.3_Missense_Mutation_p.S31L|TSSK6_ENST00000585580.3_5'Flank|YJEFN3_ENST00000608404.1_Missense_Mutation_p.S31L|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.S31L|TSSK6_ENST00000360913.3_5'Flank|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000503283.1_Missense_Mutation_p.S31L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.S114L			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	31					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.S114L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CGAGGACTGTCGGGTCAGTAT	0.667																																																1	Substitution - Missense(1)	kidney(1)											25	28	27					19																	19627139		2202	4298	6500	SO:0001583	missense	51079			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.92C>T	19.37:g.19627139C>T	ENSP00000423673:p.Ser31Leu		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959953	0.92791	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	T;T;T	0.79554	-1.28;-1.28;-1.28	5.3	5.3	0.74995	.	0.236704	0.36234	N	0.002703	D	0.90872	0.7132	M	0.91038	3.17	0.26112	N	0.980661	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.987;0.943	D	0.85411	0.1137	10	0.72032	D	0.01	.	12.281	0.54762	0.0:0.829:0.171:0.0	.	31;31;31	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	L	31;114;31;31	ENSP00000423673:S31L;ENSP00000252576:S114L;ENSP00000452549:S31L	ENSP00000252576:S114L	S	+	2	0	YJEFN3;NDUFA13;CTC-260F20.3	19488139	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	4.448000	0.60027	2.504000	0.84457	0.650000	0.86243	TCG		0.667	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		T	19627139	C	T	19627139	3	4	53	1	0	0	0	0	1	0	0	0	10265	893	31	1	94	1	NDUFA13	19	19627139	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	4797782	19627139	39501844	62	3911											
ZNF91	7644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	23545331	23545331	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:23545331C>G	ENST00000300619.7	-	4	655	c.450G>C	c.(448-450)caG>caC	p.Q150H	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.Q118H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	150					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q150H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ATACTTTGCTCTGGGCAGTTG	0.318																																																1	Substitution - Missense(1)	kidney(1)											74	78	77					19																	23545331		2154	4276	6430	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.450G>C	19.37:g.23545331C>G	ENSP00000300619:p.Gln150His		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	2.577	-0.298360	0.05532	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05996	3.41;3.36	0.428	0.428	0.16499	.	.	.	.	.	T	0.11665	0.0284	L	0.46670	1.46	0.09310	N	1	P;D	0.58620	0.787;0.983	B;P	0.59948	0.248;0.866	T	0.30621	-0.9972	8	0.19590	T	0.45	.	.	.	.	.	118;150	Q05481-2;Q05481	.;ZNF91_HUMAN	H	150;118	ENSP00000300619:Q150H;ENSP00000380272:Q118H	ENSP00000300619:Q150H	Q	-	3	2	ZNF91	23337171	0.000000	0.05858	0.002000	0.10522	0.091000	0.18340	-0.420000	0.07062	0.436000	0.26393	0.174000	0.16983	CAG		0.318	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		G	23545331	C	G	23545331	3	3	53	1	0	0	0	0	1	0	0	0	18205	912	32	4	3129	4	ZNF91	19	23545331	Missense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	3918192	23545331	35583652	63	3912											
NUP62	23636	hgsc.bcm.edu	37	19	50411672	50411673	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:50411672_50411673insG	ENST00000596217.1	-	2	3279_3280	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	NUP62_ENST00000597029.1_Frame_Shift_Ins_p.A465fs|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Frame_Shift_Ins_p.A389fs|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000352066.3_Frame_Shift_Ins_p.A465fs|NUP62_ENST00000413454.1_Frame_Shift_Ins_p.A465fs|NUP62_ENST00000422090.2_Frame_Shift_Ins_p.A465fs|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	465					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGGTGTCGGCGGGGGCCCCGG	0.579																																																0																																										SO:0001589	frameshift_variant	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1393dupC	19.37:g.50411677_50411677dupG	ENSP00000471191:p.Ala465fs		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Frame_Shift_Ins	INS	ENST00000596217.1	37	CCDS12788.1																																																																																				0.579	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		G	50411673	-	G	50411672	7	5	53	1	0	1	1	0	0	0	0	0	10770	768	27	0	179	0	NUP62	19	50411672	Frame_Shift_Ins	INS	-	TCGA-A3-3367-01A-02D-1421-08	26866341	50411672	8717311	64	3913											
SIGLEC8	27181	hgsc.bcm.edu;ucsc.edu	37	19	51957520	51957520	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:51957520delC	ENST00000321424.3	-	6	1264	c.1198delG	c.(1198-1200)gatfs	p.D400fs	SIGLEC8_ENST00000340550.5_Frame_Shift_Del_p.D307fs|SIGLEC8_ENST00000430817.1_Frame_Shift_Del_p.D291fs|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	400					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATGCCTGTATCCCCCACGCCC	0.592																																																0													122	110	114					19																	51957520		2203	4300	6503	SO:0001589	frameshift_variant	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1198delG	19.37:g.51957520delC	ENSP00000321077:p.Asp400fs		Q7Z728	Frame_Shift_Del	DEL	ENST00000321424.3	37	CCDS33086.1																																																																																				0.592	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		-	51957520	C	-	51957520	7	5	53	1	0	1	0	1	0	0	0	0	14320	855	30	0	309	0	SIGLEC8	19	51957520	Frame_Shift_Del	DEL	C	TCGA-A3-3367-01A-02D-1421-08	1545848	51957520	7171463	65	3914											
NLRP9	338321	broad.mit.edu;hgsc.bcm.edu	37	19	56244059	56244059	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:56244059T>A	ENST00000332836.2	-	2	1165	c.1138A>T	c.(1138-1140)Agt>Tgt	p.S380C		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	380	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S380C(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAACTCTGACTTCCTGCTTTG	0.418																																																1	Substitution - Missense(1)	kidney(1)											94	95	95					19																	56244059		2202	4300	6502	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1138A>T	19.37:g.56244059T>A	ENSP00000331857:p.Ser380Cys		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	T	2.964	-0.214004	0.06101	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.84298	-1.83	2.56	-5.13	0.02884	.	.	.	.	.	T	0.74786	0.3762	L	0.52573	1.65	0.09310	N	1	B	0.17465	0.022	B	0.17979	0.02	T	0.55055	-0.8200	9	0.39692	T	0.17	.	2.2034	0.03929	0.2708:0.42:0.1371:0.1722	.	380	Q7RTR0	NALP9_HUMAN	C	380	ENSP00000331857:S380C	ENSP00000331857:S380C	S	-	1	0	NLRP9	60935871	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.255000	0.01182	-2.373000	0.00600	-0.269000	0.10298	AGT		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		A	56244059	T	A	56244059	3	1	53	1	0	0	0	0	1	0	0	0	10486	1609	56	5	1869	5	NLRP9	19	56244059	Missense_Mutation	SNP	T	TCGA-A3-3367-01A-02D-1421-08	4286539	56244059	2884924	66	3915											
ZNF584	201514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58921394	58921394	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr19:58921394T>G	ENST00000306910.4	+	2	628	c.105T>G	c.(103-105)aaT>aaG	p.N35K	ZNF584_ENST00000593920.1_De_novo_Start_OutOfFrame|ZNF584_ENST00000596281.1_Intron|ZNF584_ENST00000599238.1_De_novo_Start_OutOfFrame|CTD-2619J13.14_ENST00000593393.1_lincRNA|ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.N27K	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N35K(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GGCTCCTTAATGTGACCCAGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											178	156	164					19																	58921394		2203	4300	6503	SO:0001583	missense	201514			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"Zinc fingers, C2H2-type", "-"	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.105T>G	19.37:g.58921394T>G	ENSP00000306756:p.Asn35Lys		A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038467	0.55003	.	.	ENSG00000171574	ENST00000306910;ENST00000322834	T;T	0.01804	4.63;4.63	3.92	2.83	0.33086	Krueppel-associated box (4);	.	.	.	.	T	0.02688	0.0081	L	0.50847	1.595	0.09310	N	1	P;B	0.44690	0.841;0.058	P;B	0.46076	0.503;0.025	T	0.45585	-0.9251	9	0.62326	D	0.03	.	2.3753	0.04340	0.2419:0.1365:0.0:0.6216	.	27;35	F6W0P0;Q8IVC4	.;ZN584_HUMAN	K	35;27	ENSP00000306756:N35K;ENSP00000320731:N27K	ENSP00000306756:N35K	N	+	3	2	ZNF584	63613206	0.000000	0.05858	0.002000	0.10522	0.992000	0.81027	-1.927000	0.01561	1.668000	0.50843	0.454000	0.30748	AAT		0.522	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		G	58921394	T	G	58921394	3	3	53	1	0	0	0	0	1	0	0	0	18021	1461	51	5	111	5	ZNF584	19	58921394	Missense_Mutation	SNP	T	TCGA-A3-3367-01A-02D-1421-08	2677335	58921394	207589	67	3916											
RASSF2	9770	broad.mit.edu	37	20	4771138	4771138	+	Missense_Mutation	SNP	G	G	A	rs147789166		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr20:4771138G>A	ENST00000379400.3	-	7	691	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R166C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	166				R -> C (in Ref. 4; BAD96370). {ECO:0000305}.	bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R166C(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AAGCGGTGGCGTCTGATTCGC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16648	0.0		0.0	False		,,,				2504	0.0				Melanoma(158;1891 3343 50738)											1	Substitution - Missense(1)	kidney(1)						G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	131	97	109		496,496	5.1	1	20	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	RASSF2	NM_014737.2,NM_170774.1	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	166/327,166/327	4771138	1,13005	2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.496C>T	20.37:g.4771138G>A	ENSP00000368710:p.Arg166Cys		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.9	4.683770	0.88639	2.27E-4	0.0	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.11495	2.77;2.77	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.19451	-1.0305	10	0.66056	D	0.02	.	17.2582	0.87063	0.0:0.0:1.0:0.0	.	166	P50749	RASF2_HUMAN	C	166	ENSP00000368710:R166C;ENSP00000368684:R166C	ENSP00000368684:R166C	R	-	1	0	RASSF2	4719138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.067000	0.71193	2.650000	0.89964	0.563000	0.77884	CGC		0.607	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		A	4771138	G	A	4771138	3	1	53	1	0	0	0	0	1	0	0	0	13092	1145	40	1	508	1	RASSF2	20	4771138	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08		4771138	58254382	68	3917											
ZNF341	84905	broad.mit.edu;hgsc.bcm.edu	37	20	32379290	32379290	+	Silent	SNP	C	C	T	rs148919836		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr20:32379290C>T	ENST00000375200.1	+	15	2897	c.2532C>T	c.(2530-2532)ctC>ctT	p.L844L	RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Silent_p.L837L|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	844					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L837L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GTGCCATGCTCGCTGTGCCCG	0.672																																																1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	27	23	24		2511	-8.5	0.7	20	dbSNP_134	24	1,8597		0,1,4298	no	coding-synonymous	ZNF341	NM_032819.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		837/848	32379290	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2532C>T	20.37:g.32379290C>T			A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	37																																																																																					0.672	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				T	32379290	C	T	32379290	2	4	53	1	0	0	0	0	0	0	0	1	17862	871	31	1		1	ZNF341	20	32379290	Silent	SNP	C	TCGA-A3-3367-01A-02D-1421-08	27608152	32379290	30646230	69	3918											
MYT1	4661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62850364	62850364	+	Silent	SNP	G	G	A	rs142303893		TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr20:62850364G>A	ENST00000328439.1	+	12	2311	c.1947G>A	c.(1945-1947)acG>acA	p.T649T	MYT1_ENST00000360149.4_Silent_p.T351T|MYT1_ENST00000536311.1_Silent_p.T676T	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T649T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACCTCAGCACGAAGCCACAGG	0.587																																					GBM(59;481 1041 20555 21139 33705)											1	Substitution - coding silent(1)	kidney(1)						G		2,4404	6.2+/-15.9	0,2,2201	56	44	48		1947	-10.7	0.9	20	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous	MYT1	NM_004535.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		649/1122	62850364	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1947G>A	20.37:g.62850364G>A			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	CCDS13558.1																																																																																				0.587	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		A	62850364	G	A	62850364	2	1	53	1	0	0	0	0	0	0	0	1	10108	1045	37	1		1	MYT1	20	62850364	Silent	SNP	G	TCGA-A3-3367-01A-02D-1421-08	30471074	62850364	175156	70	3919											
GNB1L	54584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	19776236	19776236	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr22:19776236G>T	ENST00000329517.6	-	8	1216	c.980C>A	c.(979-981)gCa>gAa	p.A327E	GNB1L_ENST00000403325.1_Missense_Mutation_p.A327E|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	327					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)		p.A327E(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GGTGAGTCATGCGCGTGGGTA	0.677																																																1	Substitution - Missense(1)	kidney(1)											53	49	50					22																	19776236		2203	4299	6502	SO:0001583	missense	54584			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.980C>A	22.37:g.19776236G>T	ENSP00000331313:p.Ala327Glu		Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318888	0.41096	.	.	ENSG00000185838	ENST00000329517;ENST00000403325	T;T	0.39787	1.06;1.06	5.23	-2.93	0.05598	WD40-repeat-containing domain (1);	4.758170	0.03859	U	0.273664	T	0.29976	0.0750	L	0.33668	1.02	0.09310	N	0.999999	B	0.15141	0.012	B	0.14578	0.011	T	0.35624	-0.9781	10	0.66056	D	0.02	-20.8179	4.28	0.10827	0.1348:0.3439:0.4043:0.117	.	327	Q9BYB4	GNB1L_HUMAN	E	327	ENSP00000331313:A327E;ENSP00000385154:A327E	ENSP00000331313:A327E	A	-	2	0	GNB1L	18156236	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.010000	0.29898	-0.210000	0.10140	-0.211000	0.12701	GCA		0.677	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			T	19776236	G	T	19776236	3	4	53	1	0	0	0	0	1	0	0	0	6518	1319	46	4	7	4	GNB1L	22	19776236	Missense_Mutation	SNP	G	TCGA-A3-3367-01A-02D-1421-08		19776236	31528330	71	3920											
MYH9	4627	broad.mit.edu;ucsc.edu	37	22	36723503	36723504	+	Intron	INS	-	-	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chr22:36723503_36723504insA	ENST00000216181.5	-	4	749				MYH9_ENST00000401701.1_Intron	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GAGAAATACTTACGTGCACAAG	0.495			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0																																										SO:0001627	intron_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.518+1->T	22.37:g.36723504_36723504dupA			A8K6E4|O60805|Q60FE2|Q86T83	Splice_Site	INS	ENST00000216181.5	37	CCDS13927.1																																																																																				0.495	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		A	36723504	-	A	36723503	6	5	53	0	1	1	1	0	0	0	0	0	10044	1769	61	0		0	MYH9	22	36723503	Intron	INS	-	TCGA-A3-3367-01A-02D-1421-08	16947267	36723503	14581063	72	3921											
SH3KBP1	30011	hgsc.bcm.edu	37	X	19560246	19560247	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chrX:19560246_19560247insG	ENST00000397821.3	-	16	1978_1979	c.1688_1689insC	c.(1687-1689)ccafs	p.P563fs	SH3KBP1_ENST00000541422.1_Frame_Shift_Ins_p.P302fs|SH3KBP1_ENST00000379698.4_Frame_Shift_Ins_p.P526fs|SH3KBP1_ENST00000379716.1_Frame_Shift_Ins_p.P325fs	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	563					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACAGAGGGGCTGGCCCACCGCC	0.653																																																0																																										SO:0001589	frameshift_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1689dupC	X.37:g.19560248_19560248dupG	ENSP00000380921:p.Pro563fs		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Frame_Shift_Ins	INS	ENST00000397821.3	37	CCDS14193.1																																																																																				0.653	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		G	19560247	-	G	19560246	7	5	53	1	0	1	1	0	0	0	0	0	14261	1567	55	0	320	0	SH3KBP1	23	19560246	Frame_Shift_Ins	INS	-	TCGA-A3-3367-01A-02D-1421-08		19560246	135710314	73	3922											
KLHL15	80311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	24006422	24006422	+	Silent	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chrX:24006422C>A	ENST00000328046.8	-	4	1686	c.1431G>T	c.(1429-1431)gcG>gcT	p.A477A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	477					protein ubiquitination (GO:0016567)			p.A477A(1)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GAAAGCATCTCGCGTAATTCA	0.468																																																1	Substitution - coding silent(1)	kidney(1)											191	171	177					X																	24006422		2203	4300	6503	SO:0001819	synonymous_variant	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1431G>T	X.37:g.24006422C>A			Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	ENST00000328046.8	37	CCDS35217.1																																																																																				0.468	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		A	24006422	C	A	24006422	2	1	53	1	0	0	0	0	0	0	0	1	8373	871	31	4		4	KLHL15	23	24006422	Silent	SNP	C	TCGA-A3-3367-01A-02D-1421-08	4446176	24006422	131264138	74	3923											
FRMD7	90167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	131234681	131234681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3367-01A-02D-1421-08	TCGA-A3-3367-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	83a091b9-35cc-4f3b-9d5f-d699b79ac421	c0f55242-222d-4d61-bc5e-389f605e31bf	g.chrX:131234681C>A	ENST00000298542.4	-	2	296	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	FRMD7_ENST00000464296.1_Nonsense_Mutation_p.E41*	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	41	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.E41*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCAAAATATTCCTTTTCAGCA	0.358																																																1	Substitution - Nonsense(1)	kidney(1)											108	104	105					X																	131234681		2203	4300	6503	SO:0001587	stop_gained	90167			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.121G>T	X.37:g.131234681C>A	ENSP00000298542:p.Glu41*		C0LLJ3|Q5JX99	Nonsense_Mutation	SNP	ENST00000298542.4	37	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814372	0.90790	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9397	0.79745	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000298542:E41X	E	-	1	0	FRMD7	131062362	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.192000	0.72069	2.067000	0.61834	0.594000	0.82650	GAA		0.358	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		A	131234681	C	A	131234681	4	1	53	1	0	0	0	0	0	1	0	0	6057	864	30	4	2067	4	FRMD7	23	131234681	Nonsense_Mutation	SNP	C	TCGA-A3-3367-01A-02D-1421-08	107228259	131234681	24035879	75	3924											
PRDX1	5052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	45984673	45984673	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr1:45984673A>G	ENST00000262746.1	-	2	382	c.43T>C	c.(43-45)Ttc>Ctc	p.F15L	PRDX1_ENST00000319248.8_Missense_Mutation_p.F15L|PRDX1_ENST00000372079.1_Missense_Mutation_p.F15L|PRDX1_ENST00000483583.1_5'UTR	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	15	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)	p.F15L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GTGGCTTTGAAGTTGGGGGCA	0.403																																																1	Substitution - Missense(1)	kidney(1)											97	95	95					1																	45984673		2203	4300	6503	SO:0001583	missense	5052			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.43T>C	1.37:g.45984673A>G	ENSP00000262746:p.Phe15Leu		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	37	CCDS522.1	.	.	.	.	.	.	.	.	.	.	A	35	5.465763	0.96257	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079;ENST00000447184;ENST00000424390	T;T;T;T;T	0.47177	0.85;0.85;1.74;0.85;0.85	5.77	5.77	0.91146	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.74076	0.3669	H	0.95224	3.64	0.80722	D	1	P	0.45634	0.863	P	0.53912	0.737	T	0.82202	-0.0574	10	0.87932	D	0	-12.392	16.3818	0.83467	1.0:0.0:0.0:0.0	.	15	Q06830	PRDX1_HUMAN	L	15	ENSP00000262746:F15L;ENSP00000361152:F15L;ENSP00000361150:F15L;ENSP00000407034:F15L;ENSP00000389047:F15L	ENSP00000262746:F15L	F	-	1	0	PRDX1	45757260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.715000	0.91416	2.330000	0.79161	0.528000	0.53228	TTC		0.403	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		G	45984673	A	G	45984673	3	3	54	1	0	0	0	0	1	0	0	0	12469	72	3	3	576	3	PRDX1	1	45984673	Missense_Mutation	SNP	A	TCGA-A3-3370-01A-02D-1421-08		45984673	203265948	1	3925											
LRRC8B	23507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	90049715	90049715	+	Silent	SNP	C	C	T			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr1:90049715C>T	ENST00000330947.2	+	5	1866	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	LRRC8B_ENST00000439853.1_Silent_p.I502I|LRRC8B_ENST00000358200.4_Silent_p.I502I|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	502					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I502I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TGGGAAAAATCCCACGCTGGG	0.453																																																1	Substitution - coding silent(1)	kidney(1)											45	50	48					1																	90049715		2203	4299	6502	SO:0001819	synonymous_variant	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1506C>T	1.37:g.90049715C>T			D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	CCDS724.1																																																																																				0.453	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		T	90049715	C	T	90049715	2	4	54	1	0	0	0	0	0	0	0	1	9024	845	30	2		2	LRRC8B	1	90049715	Silent	SNP	C	TCGA-A3-3370-01A-02D-1421-08	44065042	90049715	159200906	2	3926											
C2orf78	388960	broad.mit.edu;ucsc.edu	37	2	74043728	74043728	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr2:74043728A>C	ENST00000409561.1	+	3	2499	c.2378A>C	c.(2377-2379)cAa>cCa	p.Q793P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	793								p.Q793P(1)|p.Q763P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						aaagcaacccaacccagttca	0.527																																																2	Substitution - Missense(2)	kidney(2)											61	63	63					2																	74043728		2095	4222	6317	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2378A>C	2.37:g.74043728A>C	ENSP00000387124:p.Gln793Pro			Missense_Mutation	SNP	ENST00000409561.1	37	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.421390	0.25639	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.44083	0.93	5.23	-9.46	0.00597	.	1.008270	0.08007	N	0.989674	T	0.31544	0.0800	L	0.48642	1.525	0.09310	N	1	B	0.29766	0.256	B	0.34779	0.189	T	0.37502	-0.9703	10	0.38643	T	0.18	3.6474	9.5861	0.39517	0.6507:0.1987:0.1506:0.0	.	793	A6NCI8	CB078_HUMAN	P	793;763	ENSP00000387124:Q793P	ENSP00000340692:Q763P	Q	+	2	0	C2orf78	73897236	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.353000	0.07691	-1.520000	0.01773	-0.376000	0.06991	CAA		0.527	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		C	74043728	A	C	74043728	3	2	54	1	0	0	0	0	1	0	0	0	2197	130	5	5	2388	5	C2orf78	2	74043728	Missense_Mutation	SNP	A	TCGA-A3-3370-01A-02D-1421-08		74043728	169155645	3	3927											
ZNF2	7549	hgsc.bcm.edu;ucsc.edu	37	2	95847736	95847736	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr2:95847736delA	ENST00000340539.5	+	5	1625	c.1163delA	c.(1162-1164)catfs	p.H388fs	ZNF2_ENST00000398107.2_Frame_Shift_Del_p.H346fs|ZNF2_ENST00000295210.6_Frame_Shift_Del_p.H350fs|ZNF2_ENST00000425369.1_Frame_Shift_Del_p.H308fs|ZNF2_ENST00000453539.2_Frame_Shift_Del_p.H401fs	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CTCACGCGGCATCAGCGTGTC	0.512																																																0													74	83	80					2																	95847736		2143	4273	6416	SO:0001589	frameshift_variant	7549			X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"Zinc fingers, C2H2-type", "-"	12991	protein-coding gene	gene with protein product		194500	"zinc finger protein 2 (A1-5)"			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.1163delA	2.37:g.95847736delA	ENSP00000345392:p.His388fs		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Frame_Shift_Del	DEL	ENST00000340539.5	37	CCDS42712.1																																																																																				0.512	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		-	95847736	A	-	95847736	7	5	54	1	0	1	0	1	0	0	0	0	17765	217	8	0	1177	0	ZNF2	2	95847736	Frame_Shift_Del	DEL	A	TCGA-A3-3370-01A-02D-1421-08	21804008	95847736	147351637	4	3928											
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141143576	141143576	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr2:141143576T>C	ENST00000389484.3	-	67	11388	c.10417A>G	c.(10417-10419)Aaa>Gaa	p.K3473E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3473					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.K3473E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAGTCTTTTTATCTGTAATG	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	kidney(1)											124	121	122					2																	141143576		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10417A>G	2.37:g.141143576T>C	ENSP00000374135:p.Lys3473Glu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.526697	0.27299	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89875	-2.58	6.08	6.08	0.98989	.	0.061222	0.64402	D	0.000004	T	0.75598	0.3871	N	0.11789	0.175	0.39939	D	0.974381	B	0.12013	0.005	B	0.12156	0.007	T	0.69518	-0.5124	10	0.02654	T	1	.	10.9027	0.47062	0.0:0.0695:0.0:0.9305	.	3473	Q9NZR2	LRP1B_HUMAN	E	3473;3411	ENSP00000374135:K3473E	ENSP00000374135:K3473E	K	-	1	0	LRP1B	140860046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.588000	0.67517	2.333000	0.79357	0.533000	0.62120	AAA		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141143576	T	C	141143576	3	2	54	1	0	0	0	0	1	0	0	0	8957	1763	61	3	3482	3	LRP1B	2	141143576	Missense_Mutation	SNP	T	TCGA-A3-3370-01A-02D-1421-08	45295840	141143576	102055797	5	3929											
ALS2	57679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	202590152	202590152	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr2:202590152T>C	ENST00000264276.6	-	20	3646	c.3274A>G	c.(3274-3276)Aag>Gag	p.K1092E	ALS2_ENST00000457679.2_Missense_Mutation_p.K404E	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1092					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.K1092E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTCATTGCCTTGTTTGGGATT	0.383																																																1	Substitution - Missense(1)	kidney(1)											235	228	230					2																	202590152		1861	4096	5957	SO:0001583	missense	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3274A>G	2.37:g.202590152T>C	ENSP00000264276:p.Lys1092Glu		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.289058	0.80914	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.41758	0.99;0.99	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	N	0.12471	0.22	0.58432	D	0.999997	D;P	0.89917	1.0;0.943	D;P	0.79784	0.993;0.867	T	0.43637	-0.9379	10	0.24483	T	0.36	.	15.5582	0.76216	0.0:0.0:0.0:1.0	.	1092;1092	Q6IQ41;Q96Q42	.;ALS2_HUMAN	E	1092;404	ENSP00000264276:K1092E;ENSP00000394823:K404E	ENSP00000264276:K1092E	K	-	1	0	ALS2	202298397	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.998000	0.70653	2.060000	0.61445	0.460000	0.39030	AAG		0.383	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		C	202590152	T	C	202590152	3	2	54	1	0	0	0	0	1	0	0	0	550	1821	63	3	1759	3	ALS2	2	202590152	Missense_Mutation	SNP	T	TCGA-A3-3370-01A-02D-1421-08	61446576	202590152	40609221	6	3930											
OSBPL10	114884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	31774806	31774806	+	Silent	SNP	G	G	T			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr3:31774806G>T	ENST00000396556.2	-	6	1160	c.1038C>A	c.(1036-1038)acC>acA	p.T346T	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Silent_p.T282T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	346					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.T346T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAATTGCCCAGGTTATGTTGG	0.502																																																2	Substitution - coding silent(2)	kidney(2)											153	144	147					3																	31774806		2203	4300	6503	SO:0001819	synonymous_variant	114884			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1038C>A	3.37:g.31774806G>T			B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	8.622	0.891636	0.17613	.	.	ENSG00000144645	ENST00000429492	.	.	.	5.19	2.21	0.28008	.	.	.	.	.	T	0.56187	0.1968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52275	-0.8597	4	.	.	.	-17.7522	8.1685	0.31241	0.0:0.1288:0.3834:0.4877	.	.	.	.	H	115	.	.	P	-	2	0	OSBPL10	31749810	0.983000	0.35010	1.000000	0.80357	0.925000	0.55904	-0.093000	0.11111	1.310000	0.45006	0.555000	0.69702	CCT		0.502	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			T	31774806	G	T	31774806	2	4	54	1	0	0	0	0	0	0	0	1	11277	987	35	4		4	OSBPL10	3	31774806	Silent	SNP	G	TCGA-A3-3370-01A-02D-1421-08		31774806	166247624	7	3931											
TBCK	93627	broad.mit.edu;hgsc.bcm.edu	37	4	107157650	107157650	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr4:107157650C>T	ENST00000273980.5	-	15	1694	c.1247G>A	c.(1246-1248)aGc>aAc	p.S416N	TBCK_ENST00000394706.3_Missense_Mutation_p.S377N|TBCK_ENST00000432496.2_Missense_Mutation_p.S416N|TBCK_ENST00000361687.4_Missense_Mutation_p.S353N|TBCK_ENST00000394708.2_Missense_Mutation_p.S416N					TBC1 domain containing kinase									p.S416N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTCATTATTGCTGTTTGAATG	0.343																																																1	Substitution - Missense(1)	kidney(1)											56	56	56					4																	107157650		2203	4299	6502	SO:0001583	missense	93627				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1247G>A	4.37:g.107157650C>T	ENSP00000273980:p.Ser416Asn			Missense_Mutation	SNP	ENST00000273980.5	37	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997455	0.74818	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	L	0.59436	1.845	0.80722	D	1	B;D;P	0.76494	0.344;0.999;0.724	B;D;B	0.70716	0.189;0.97;0.19	T	0.00111	-1.2046	10	0.45353	T	0.12	.	20.2169	0.98300	0.0:1.0:0.0:0.0	.	416;377;353	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	N	416;416;353;377;416	ENSP00000273980:S416N;ENSP00000405847:S416N;ENSP00000355338:S353N;ENSP00000378196:S377N;ENSP00000378198:S416N	ENSP00000273980:S416N	S	-	2	0	TBCK	107377099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.774000	0.95407	0.643000	0.83706	AGC		0.343	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		T	107157650	C	T	107157650	3	4	54	1	0	0	0	0	1	0	0	0	15641	797	28	2	1486	2	TBCK	4	107157650	Missense_Mutation	SNP	C	TCGA-A3-3370-01A-02D-1421-08		107157650	83996626	8	3932											
SLC25A4	291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	186066922	186066922	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr4:186066922C>G	ENST00000281456.6	+	3	740	c.608C>G	c.(607-609)cCt>cGt	p.P203R		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	203					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)	p.P203R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GGGATGCTGCCTGACCCCAAG	0.577																																																1	Substitution - Missense(1)	kidney(1)											98	79	85					4																	186066922		2203	4300	6503	SO:0001583	missense	291			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"Solute carriers"	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.608C>G	4.37:g.186066922C>G	ENSP00000281456:p.Pro203Arg		D3DP59	Missense_Mutation	SNP	ENST00000281456.6	37	CCDS34114.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374748	0.61735	.	.	ENSG00000151729	ENST00000281456	T	0.77877	-1.13	5.54	4.7	0.59300	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	L	0.47716	1.5	0.80722	D	1	B	0.16603	0.018	B	0.17433	0.018	T	0.70414	-0.4878	10	0.56958	D	0.05	-2.7034	14.3719	0.66846	0.0:0.9297:0.0:0.0703	.	203	P12235	ADT1_HUMAN	R	203	ENSP00000281456:P203R	ENSP00000281456:P203R	P	+	2	0	SLC25A4	186303916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.638000	0.83328	1.578000	0.49821	0.655000	0.94253	CCT		0.577	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151		G	186066922	C	G	186066922	3	3	54	1	0	0	0	0	1	0	0	0	14510	681	24	4	618	4	SLC25A4	4	186066922	Missense_Mutation	SNP	C	TCGA-A3-3370-01A-02D-1421-08	78909272	186066922	5087354	9	3933											
SNX18	112574	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	53814577	53814577	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr5:53814577T>A	ENST00000326277.3	+	1	985	c.795T>A	c.(793-795)taT>taA	p.Y265*	SNX18_ENST00000381410.4_Nonsense_Mutation_p.Y265*|SNX18_ENST00000343017.6_Nonsense_Mutation_p.Y265*	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	265					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.Y265*(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TGGGGCCCTATGGCCCCGAGT	0.627																																																2	Substitution - Nonsense(2)	kidney(2)											66	71	70					5																	53814577		2203	4300	6503	SO:0001587	stop_gained	112574			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.795T>A	5.37:g.53814577T>A	ENSP00000317332:p.Tyr265*		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Nonsense_Mutation	SNP	ENST00000326277.3	37	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	C	37	6.581271	0.97680	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	.	.	.	4.8	2.08	0.27032	.	0.484880	0.22019	N	0.065760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.9338	5.6753	0.17745	0.0:0.5751:0.1292:0.2957	.	.	.	.	X	265	.	ENSP00000317332:Y265X	Y	+	3	2	SNX18	53850334	0.051000	0.20477	0.997000	0.53966	0.990000	0.78478	-0.540000	0.06106	0.010000	0.14839	-0.226000	0.12346	TAT		0.627	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			A	53814577	T	A	53814577	4	1	54	1	0	0	0	0	0	1	0	0	14895	1471	51	5	797	5	SNX18	5	53814577	Nonsense_Mutation	SNP	T	TCGA-A3-3370-01A-02D-1421-08		53814577	127100683	10	3934											
CRHBP	1393	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	76249908	76249908	+	Missense_Mutation	SNP	C	C	T	rs79810800		TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr5:76249908C>T	ENST00000274368.4	+	3	652	c.230C>T	c.(229-231)cCg>cTg	p.P77L	CRHBP_ENST00000506501.1_Missense_Mutation_p.P77L	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	77					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)	p.P77L(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GCCGACCGGCCGCAGCTGCAC	0.652																																																1	Substitution - Missense(1)	kidney(1)						C	LEU/PRO	0,4406		0,0,2203	54	59	58		230	4	1	5	dbSNP_131	58	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CRHBP	NM_001882.3	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	77/323	76249908	2,13004	2203	4300	6503	SO:0001583	missense	1393			X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"corticotropin releasing hormone-binding protein"			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.230C>T	5.37:g.76249908C>T	ENSP00000274368:p.Pro77Leu		Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671149	0.88348	0.0	2.33E-4	ENSG00000145708	ENST00000274368;ENST00000506501	T;T	0.70399	-0.48;-0.48	4.01	4.01	0.46588	CUB (1);	0.000000	0.85682	D	0.000000	D	0.83931	0.5361	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.91635	0.999;0.559	D	0.86784	0.1981	10	0.72032	D	0.01	-11.844	16.6414	0.85128	0.0:1.0:0.0:0.0	.	77;77	D6RHH7;P24387	.;CRHBP_HUMAN	L	77	ENSP00000274368:P77L;ENSP00000426097:P77L	ENSP00000274368:P77L	P	+	2	0	CRHBP	76285664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.481000	0.66826	2.225000	0.72522	0.462000	0.41574	CCG		0.652	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		T	76249908	C	T	76249908	3	4	54	1	0	0	0	0	1	0	0	0	3872	652	23	1	240	1	CRHBP	5	76249908	Missense_Mutation	SNP	C	TCGA-A3-3370-01A-02D-1421-08	22435331	76249908	104665352	11	3935											
SLC23A1	9963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138707793	138707793	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr5:138707793C>A	ENST00000348729.3	-	14	1745	c.1699G>T	c.(1699-1701)Gtc>Ttc	p.V567F	CTB-43P18.1_ENST00000503553.3_RNA|SLC23A1_ENST00000353963.3_Missense_Mutation_p.V571F	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	567					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)	p.V571F(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CCTTTGAAGACTGGGCAGATA	0.408																																																1	Substitution - Missense(1)	kidney(1)											144	145	145					5																	138707793		2203	4300	6503	SO:0001583	missense	9963			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1699G>T	5.37:g.138707793C>A	ENSP00000302701:p.Val567Phe		O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337101	0.41398	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000339881	T;T	0.17691	2.26;2.26	6.02	3.25	0.37280	.	0.413235	0.27004	N	0.021402	T	0.12817	0.0311	L	0.36672	1.1	0.35074	D	0.762769	B;B	0.22800	0.075;0.036	B;B	0.26310	0.068;0.056	T	0.10245	-1.0638	10	0.62326	D	0.03	-24.0446	4.9584	0.14054	0.1239:0.6219:0.12:0.1341	.	567;571	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	F	571;567;228	ENSP00000302851:V571F;ENSP00000302701:V567F	ENSP00000343584:V228F	V	-	1	0	SLC23A1	138735692	0.383000	0.25156	1.000000	0.80357	0.997000	0.91878	0.577000	0.23758	0.861000	0.35504	0.650000	0.86243	GTC		0.408	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		A	138707793	C	A	138707793	3	1	54	1	0	0	0	0	1	0	0	0	14468	565	20	4	101	4	SLC23A1	5	138707793	Missense_Mutation	SNP	C	TCGA-A3-3370-01A-02D-1421-08	62457885	138707793	42207467	12	3936											
PI16	221476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36922553	36922553	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr6:36922553G>T	ENST00000373674.3	+	1	345	c.17G>T	c.(16-18)aGt>aTt	p.S6I		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	6					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.S6I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCTCCTGCAGTTTCctgatg	0.602																																																1	Substitution - Missense(1)	kidney(1)											39	41	40					6																	36922553		2203	4300	6503	SO:0001583	missense	221476				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.17G>T	6.37:g.36922553G>T	ENSP00000362778:p.Ser6Ile		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262737	0.39995	.	.	ENSG00000164530	ENST00000536757;ENST00000373674	T	0.07800	3.16	5.36	1.28	0.21552	.	1.176140	0.06063	N	0.658753	T	0.02083	0.0065	L	0.29908	0.895	0.09310	N	1	P;B	0.35982	0.531;0.131	B;B	0.31191	0.125;0.081	T	0.44982	-0.9292	10	0.87932	D	0	.	6.3642	0.21445	0.2175:0.0:0.6547:0.1278	.	6;6	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	I	6	ENSP00000362778:S6I	ENSP00000362778:S6I	S	+	2	0	PI16	37030531	0.000000	0.05858	0.003000	0.11579	0.944000	0.59088	0.397000	0.20883	0.646000	0.30693	0.491000	0.48974	AGT		0.602	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		T	36922553	G	T	36922553	3	4	54	1	0	0	0	0	1	0	0	0	11871	1029	36	4	19	4	PI16	6	36922553	Missense_Mutation	SNP	G	TCGA-A3-3370-01A-02D-1421-08		36922553	134192514	13	3937											
REPS1	85021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	139233902	139233902	+	Splice_Site	SNP	C	C	T			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr6:139233902C>T	ENST00000450536.2	-	16	2545	c.1971G>A	c.(1969-1971)ccG>ccA	p.P657P	REPS1_ENST00000415951.2_Splice_Site_p.P630P|REPS1_ENST00000409812.2_Splice_Site_p.P566P|REPS1_ENST00000367663.4_Splice_Site_p.P630P|REPS1_ENST00000258062.5_Splice_Site_p.P656P			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	657	Interaction with RALBP1. {ECO:0000250}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)	p.P604P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GAAAACTGACCGGCAGGACTT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											134	124	128					6																	139233902		2203	4300	6503	SO:0001630	splice_region_variant	85021				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1971+1G>A	6.37:g.139233902C>T			B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Silent	SNP	ENST00000450536.2	37		.	.	.	.	.	.	.	.	.	.	C	14.12	2.441987	0.43326	.	.	ENSG00000135597	ENST00000478483	.	.	.	5.96	4.17	0.49024	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58787	-0.7575	4	.	.	.	-1.1258	13.331	0.60488	0.0:0.8698:0.0:0.1302	.	.	.	.	Q	36	.	.	R	-	2	0	REPS1	139275595	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.475000	0.45162	0.826000	0.34661	0.655000	0.94253	CGG		0.428	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		Silent	T	139233902	C	T	139233902	5	4	54	1	0	0	0	0	0	0	1	0	13234	666	23	1	439	1	REPS1	6	139233902	Splice_Site	SNP	C	TCGA-A3-3370-01A-02D-1421-08	102311349	139233902	31881165	14	3938											
DDC	1644	broad.mit.edu	37	7	50607651	50607651	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr7:50607651T>C	ENST00000444124.2	-	3	477	c.277A>G	c.(277-279)Atg>Gtg	p.M93V	DDC_ENST00000426377.1_Intron|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Missense_Mutation_p.M93V|DDC_ENST00000380984.4_Missense_Mutation_p.M93V|DDC_ENST00000357936.5_Missense_Mutation_p.M93V|AC018705.5_ENST00000454521.1_RNA	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	93	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.M93V(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CCGCACAGCATGTCCGCAAGC	0.662																																																2	Substitution - Missense(2)	kidney(2)											92	76	81					7																	50607651		2202	4300	6502	SO:0001583	missense	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.277A>G	7.37:g.50607651T>C	ENSP00000403644:p.Met93Val		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.466338	0.63625	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	T;T;T;T	0.41065	1.01;1.1;1.01;1.01	5.5	5.5	0.81552	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.073190	0.85682	D	0.000000	T	0.56441	0.1985	M	0.89095	3.005	0.80722	D	1	B;B	0.34103	0.394;0.437	B;B	0.38616	0.277;0.216	T	0.64504	-0.6392	10	0.87932	D	0	-22.6585	15.6119	0.76727	0.0:0.0:0.0:1.0	.	93;93	Q53Y41;P20711	.;DDC_HUMAN	V	93	ENSP00000350616:M93V;ENSP00000399184:M93V;ENSP00000403644:M93V;ENSP00000370371:M93V	ENSP00000350616:M93V	M	-	1	0	DDC	50575145	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	8.008000	0.88588	2.080000	0.62538	0.533000	0.62120	ATG		0.662	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			C	50607651	T	C	50607651	3	2	54	1	0	0	0	0	1	0	0	0	4327	1464	51	3	1213	3	DDC	7	50607651	Missense_Mutation	SNP	T	TCGA-A3-3370-01A-02D-1421-08		50607651	108531012	15	3939											
ABP1	26	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150554402	150554402	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr7:150554402T>C	ENST00000493429.1	+	4	1428	c.844T>C	c.(844-846)Ttc>Ctc	p.F282L	AOC1_ENST00000360937.4_Missense_Mutation_p.F282L|AOC1_ENST00000416793.2_Missense_Mutation_p.F282L|AOC1_ENST00000467291.1_Missense_Mutation_p.F282L			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	282					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.F282L(1)								Amiloride(DB00594)	GCCGCCCCTCTTCTCCTCCCA	0.682																																																1	Substitution - Missense(1)	kidney(1)											16	20	19					7																	150554402		1984	4139	6123	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.844T>C	7.37:g.150554402T>C	ENSP00000418614:p.Phe282Leu		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.826363	0.90955	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.16	5.16	0.70880	Copper amine oxidase, N-terminal (1);	0.532158	0.17044	N	0.189191	T	0.31979	0.0814	L	0.50333	1.59	0.45502	D	0.99846	D;P	0.58268	0.982;0.914	P;B	0.52909	0.713;0.305	T	0.03139	-1.1068	10	0.66056	D	0.02	-16.2633	12.9888	0.58606	0.0:0.0:0.0:1.0	.	282;282	C9J690;P19801	.;ABP1_HUMAN	L	282;282;282;282;158;282	ENSP00000418614:F282L;ENSP00000418328:F282L;ENSP00000354193:F282L;ENSP00000411613:F282L;ENSP00000417392:F282L	ENSP00000354193:F282L	F	+	1	0	ABP1	150185335	0.025000	0.19082	0.995000	0.50966	0.966000	0.64601	1.540000	0.36115	2.163000	0.67991	0.459000	0.35465	TTC		0.682	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		C	150554402	T	C	150554402	3	2	54	1	0	0	0	0	1	0	0	0	98	1609	56	3	846	3	ABP1	7	150554402	Missense_Mutation	SNP	T	TCGA-A3-3370-01A-02D-1421-08	99946751	150554402	8584261	16	3940											
MLL3	58508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151879304	151879304	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr7:151879304C>G	ENST00000262189.6	-	36	5859	c.5641G>C	c.(5641-5643)Gtg>Ctg	p.V1881L	KMT2C_ENST00000355193.2_Missense_Mutation_p.V1881L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1881	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V1881L(2)									GGTGAAAACACTTGCGGTGAG	0.537																																																2	Substitution - Missense(2)	kidney(2)											86	89	88					7																	151879304		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5641G>C	7.37:g.151879304C>G	ENSP00000262189:p.Val1881Leu		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	7.425	0.637514	0.14386	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.51325	0.71;0.71	5.41	-6.04	0.02178	.	0.365897	0.21904	N	0.067406	T	0.21227	0.0511	N	0.24115	0.695	0.49483	D	0.999791	B;B	0.15141	0.0;0.012	B;B	0.12156	0.001;0.007	T	0.15235	-1.0444	10	0.13470	T	0.59	.	5.1258	0.14884	0.0844:0.0989:0.085:0.7318	.	1881;942	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	L	1881	ENSP00000262189:V1881L;ENSP00000347325:V1881L	ENSP00000262189:V1881L	V	-	1	0	MLL3	151510237	0.165000	0.22948	0.062000	0.19696	0.629000	0.37895	0.236000	0.17967	-1.422000	0.02004	-0.471000	0.05019	GTG		0.537	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151879304	C	G	151879304	3	3	54	1	0	0	0	0	1	0	0	0	9624	565	20	4	9190	4	MLL3	7	151879304	Missense_Mutation	SNP	C	TCGA-A3-3370-01A-02D-1421-08	1324902	151879304	7259359	17	3941											
MRPL15	29088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	55055338	55055338	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr8:55055338G>A	ENST00000260102.4	+	4	619	c.545G>A	c.(544-546)aGa>aAa	p.R182K		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	182					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R182K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TATGATCCAAGAAGTCTGGGT	0.368																																																1	Substitution - Missense(1)	kidney(1)											139	130	133					8																	55055338		2203	4300	6503	SO:0001583	missense	29088			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.545G>A	8.37:g.55055338G>A	ENSP00000260102:p.Arg182Lys		Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869160	0.32977	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	2.31	0.28768	Ribosomal protein L18e/L15P (1);	0.131887	0.64402	N	0.000006	T	0.37156	0.0993	L	0.49126	1.545	0.18873	N	0.999988	B	0.02656	0.0	B	0.04013	0.001	T	0.20907	-1.0261	9	0.26408	T	0.33	-9.5985	8.7999	0.34903	0.0702:0.0:0.662:0.2677	.	182	Q9P015	RM15_HUMAN	K	182	.	ENSP00000260102:R182K	R	+	2	0	MRPL15	55217891	0.967000	0.33354	0.027000	0.17364	0.990000	0.78478	4.334000	0.59291	0.710000	0.31997	0.655000	0.94253	AGA		0.368	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		A	55055338	G	A	55055338	3	1	54	1	0	0	0	0	1	0	0	0	9782	942	33	2	559	2	MRPL15	8	55055338	Missense_Mutation	SNP	G	TCGA-A3-3370-01A-02D-1421-08		55055338	91308684	18	3942											
CAMSAP1	157922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	138703212	138703212	+	Silent	SNP	G	G	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr9:138703212G>A	ENST00000389532.4	-	17	4816	c.4752C>T	c.(4750-4752)aaC>aaT	p.N1584N	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.N1306N|CAMSAP1_ENST00000409386.3_Silent_p.N1595N	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1584	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.N1584N(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCACAGGTGGTTGTGGATTG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											151	130	137					9																	138703212		2203	4300	6503	SO:0001819	synonymous_variant	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4752C>T	9.37:g.138703212G>A			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	CCDS35176.2																																																																																				0.522	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		A	138703212	G	A	138703212	2	1	54	1	0	0	0	0	0	0	0	1	2613	1252	44	2		2	CAMSAP1	9	138703212	Silent	SNP	G	TCGA-A3-3370-01A-02D-1421-08		138703212	2510219	19	3943											
RSU1	6251	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	16737058	16737058	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr10:16737058T>A	ENST00000377921.3	-	7	996	c.695A>T	c.(694-696)cAt>cTt	p.H232L	RSU1_ENST00000602389.1_Missense_Mutation_p.H179L|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.H232L			Q15404	RSU1_HUMAN	Ras suppressor protein 1	232					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.H232L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		CTCAAAAACATGGGACACGCC	0.408																																																1	Substitution - Missense(1)	kidney(1)											78	78	78					10																	16737058		2203	4300	6503	SO:0001583	missense	6251			AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.695A>T	10.37:g.16737058T>A	ENSP00000367154:p.His232Leu		A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582097	0.65992	.	.	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	T;T	0.38722	1.12;1.12	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	M	0.64170	1.965	0.80722	D	1	P	0.44195	0.828	B	0.39339	0.297	T	0.43988	-0.9357	10	0.45353	T	0.12	.	15.4608	0.75356	0.0:0.0:0.0:1.0	.	232	Q15404	RSU1_HUMAN	L	232;232;179	ENSP00000339521:H232L;ENSP00000367154:H232L	ENSP00000339521:H232L	H	-	2	0	RSU1	16777064	1.000000	0.71417	0.956000	0.39512	0.701000	0.40568	7.698000	0.84413	2.054000	0.61138	0.455000	0.32223	CAT		0.408	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724		A	16737058	T	A	16737058	3	1	54	1	0	0	0	0	1	0	0	0	13722	1464	51	5	146	5	RSU1	10	16737058	Missense_Mutation	SNP	T	TCGA-A3-3370-01A-02D-1421-08		16737058	118797689	20	3944											
SORBS1	10580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	97135759	97135759	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr10:97135759A>G	ENST00000361941.3	-	17	1734	c.1708T>C	c.(1708-1710)Ttc>Ctc	p.F570L	SORBS1_ENST00000393949.1_Missense_Mutation_p.F540L|SORBS1_ENST00000371227.4_Missense_Mutation_p.F524L|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371245.3_Missense_Mutation_p.F455L|SORBS1_ENST00000353505.5_Missense_Mutation_p.F455L|SORBS1_ENST00000607232.1_Missense_Mutation_p.F359L|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.F540L|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.F592L|SORBS1_ENST00000371239.1_Missense_Mutation_p.F369L|SORBS1_ENST00000371247.2_Missense_Mutation_p.F570L|SORBS1_ENST00000277982.5_Missense_Mutation_p.F592L|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Missense_Mutation_p.F438L	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.F455L(1)|p.F570L(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCCGAAAAGAATTTATACCAA	0.378																																																2	Substitution - Missense(2)	kidney(2)											83	85	85					10																	97135759		2203	4300	6503	SO:0001583	missense	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1708T>C	10.37:g.97135759A>G	ENSP00000355136:p.Phe570Leu			Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	A	34	5.317095	0.95682	.	.	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.66	5.66	0.87406	.	0.000000	0.38005	N	0.001855	T	0.51227	0.1662	N	0.25485	0.75	0.41898	D	0.990401	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.996;0.989	D;D;D;D;P;P	0.80764	0.957;0.994;0.986;0.967;0.881;0.89	T	0.48692	-0.9013	10	0.32370	T	0.25	-15.3233	15.8933	0.79318	1.0:0.0:0.0:0.0	.	524;455;570;592;438;540	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5	.;.;SRBS1_HUMAN;.;.;.	L	455;570;524;592;540;455;438;570;592;540;369	ENSP00000360291:F455L;ENSP00000360293:F570L;ENSP00000360271:F524L;ENSP00000360292:F592L;ENSP00000377521:F540L;ENSP00000343998:F455L;ENSP00000277985:F438L;ENSP00000355136:F570L;ENSP00000277982:F592L;ENSP00000277984:F540L;ENSP00000360283:F369L	ENSP00000277982:F592L	F	-	1	0	SORBS1	97125749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.297000	0.96120	2.158000	0.67659	0.533000	0.62120	TTC		0.378	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			G	97135759	A	G	97135759	3	3	54	1	0	0	0	0	1	0	0	0	14933	101	4	3	2294	3	SORBS1	10	97135759	Missense_Mutation	SNP	A	TCGA-A3-3370-01A-02D-1421-08	80398701	97135759	38398988	21	3945											
COMMD9	29099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	36302301	36302301	+	Silent	SNP	T	T	G			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr11:36302301T>G	ENST00000263401.5	-	2	154	c.138A>C	c.(136-138)acA>acC	p.T46T	COMMD9_ENST00000532705.1_Silent_p.T46T|COMMD9_ENST00000452374.2_Intron	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	46								p.T46T(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				AGCTGGAACATGTAACATCCA	0.448																																																1	Substitution - coding silent(1)	kidney(1)											115	108	111					11																	36302301		2202	4298	6500	SO:0001819	synonymous_variant	29099			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.138A>C	11.37:g.36302301T>G			E9PAN2|Q96FI2|Q9H0R0	Silent	SNP	ENST00000263401.5	37	CCDS7900.1																																																																																				0.448	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186		G	36302301	T	G	36302301	2	3	54	1	0	0	0	0	0	0	0	1	3725	1451	51	5		5	COMMD9	11	36302301	Silent	SNP	T	TCGA-A3-3370-01A-02D-1421-08		36302301	98704215	22	3946											
BTG1	694	broad.mit.edu;hgsc.bcm.edu	37	12	92539272	92539272	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr12:92539272C>T	ENST00000256015.3	-	1	401	c.40G>A	c.(40-42)Gag>Aag	p.E14K	C12orf79_ENST00000551563.2_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA|RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000546975.1_5'Flank|C12orf79_ENST00000549802.1_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	14					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)	p.E14K(1)		haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				GCGGCGATCTCGCCTATCATG	0.721			T	MYC	BCLL																																		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	1	Substitution - Missense(1)	kidney(1)											38	43	41					12																	92539272		2203	4297	6500	SO:0001583	missense	694				CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.40G>A	12.37:g.92539272C>T	ENSP00000256015:p.Glu14Lys		P31607	Missense_Mutation	SNP	ENST00000256015.3	37	CCDS9043.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093779	0.94149	.	.	ENSG00000133639	ENST00000256015	T	0.59906	0.23	3.92	3.03	0.35002	Anti-proliferative protein (2);	0.053894	0.64402	D	0.000001	T	0.77909	0.4201	M	0.92604	3.325	0.80722	D	1	D	0.63046	0.992	D	0.64410	0.925	T	0.81355	-0.0970	10	0.62326	D	0.03	-2.2729	11.275	0.49161	0.0:0.9093:0.0:0.0907	.	14	P62324	BTG1_HUMAN	K	14	ENSP00000256015:E14K	ENSP00000256015:E14K	E	-	1	0	BTG1	91063403	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.935000	0.63498	0.840000	0.34995	0.455000	0.32223	GAG		0.721	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			T	92539272	C	T	92539272	3	4	54	1	0	0	0	0	1	0	0	0	1555	893	31	1	483	1	BTG1	12	92539272	Missense_Mutation	SNP	C	TCGA-A3-3370-01A-02D-1421-08		92539272	41312623	23	3947											
POLE	5426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133220012	133220012	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr12:133220012C>G	ENST00000320574.5	-	34	4468	c.4425G>C	c.(4423-4425)caG>caC	p.Q1475H	POLE_ENST00000535270.1_Missense_Mutation_p.Q1448H|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1475					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.Q1475H(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGTAGCTGAACTGGGCCAGAG	0.577								DNA polymerases (catalytic subunits)																																								2	Substitution - Missense(2)	kidney(2)											131	127	128					12																	133220012		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4425G>C	12.37:g.133220012C>G	ENSP00000322570:p.Gln1475His		Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	9.997	1.232431	0.22626	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02890	4.12;4.12;4.12	5.69	1.82	0.25136	.	0.049872	0.85682	D	0.000000	T	0.03348	0.0097	L	0.45581	1.43	0.80722	D	1	B;B	0.14438	0.01;0.006	B;B	0.17433	0.018;0.008	T	0.45190	-0.9278	10	0.38643	T	0.18	.	9.4433	0.38681	0.0:0.7296:0.0:0.2704	.	1448;1475	F5H1D6;Q07864	.;DPOE1_HUMAN	H	1475;1486;1448	ENSP00000322570:Q1475H;ENSP00000406383:Q1486H;ENSP00000445753:Q1448H	ENSP00000322570:Q1475H	Q	-	3	2	POLE	131730085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.693000	0.47027	0.349000	0.23975	0.650000	0.86243	CAG		0.577	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		G	133220012	C	G	133220012	3	3	54	1	0	0	0	0	1	0	0	0	12198	564	20	4	2499	4	POLE	12	133220012	Missense_Mutation	SNP	C	TCGA-A3-3370-01A-02D-1421-08	40680740	133220012	631883	24	3948											
OR4K1	79544	broad.mit.edu;hgsc.bcm.edu	37	14	20403973	20403973	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr14:20403973T>A	ENST00000285600.4	+	1	207	c.148T>A	c.(148-150)Tct>Act	p.S50T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S50T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGTCATTATTTCTTTTGACTC	0.373																																																1	Substitution - Missense(1)	kidney(1)											331	348	342					14																	20403973		2203	4300	6503	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.148T>A	14.37:g.20403973T>A	ENSP00000285600:p.Ser50Thr		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.974052	0.00452	.	.	ENSG00000155249	ENST00000285600	T	0.01076	5.37	4.77	0.941	0.19519	GPCR, rhodopsin-like superfamily (1);	0.600012	0.15160	N	0.277230	T	0.00440	0.0014	N	0.01277	-0.915	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47407	-0.9120	10	0.02654	T	1	.	5.6255	0.17480	0.2839:0.0:0.1457:0.5704	.	50	Q8NGD4	OR4K1_HUMAN	T	50	ENSP00000285600:S50T	ENSP00000285600:S50T	S	+	1	0	OR4K1	19473813	0.000000	0.05858	0.062000	0.19696	0.329000	0.28539	-0.574000	0.05868	0.826000	0.34661	0.459000	0.35465	TCT		0.373	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			A	20403973	T	A	20403973	3	1	54	1	0	0	0	0	1	0	0	0	11069	1783	62	5	150	5	OR4K1	14	20403973	Missense_Mutation	SNP	T	TCGA-A3-3370-01A-02D-1421-08		20403973	86945567	25	3949											
OR4K1	79544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	20404157	20404157	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr14:20404157A>G	ENST00000285600.4	+	1	391	c.332A>G	c.(331-333)gAg>gGg	p.E111G		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E111G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTTGGGAGTGAGATGATGTTG	0.418																																																1	Substitution - Missense(1)	kidney(1)											142	138	139					14																	20404157		2203	4300	6503	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.332A>G	14.37:g.20404157A>G	ENSP00000285600:p.Glu111Gly		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	19.04	3.749319	0.69533	.	.	ENSG00000155249	ENST00000285600	T	0.00388	7.59	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.01592	0.0051	H	0.95982	3.75	0.34536	D	0.709728	D	0.89917	1.0	D	0.72982	0.979	T	0.06899	-1.0801	10	0.87932	D	0	.	12.5899	0.56437	1.0:0.0:0.0:0.0	.	111	Q8NGD4	OR4K1_HUMAN	G	111	ENSP00000285600:E111G	ENSP00000285600:E111G	E	+	2	0	OR4K1	19473997	0.986000	0.35501	1.000000	0.80357	0.994000	0.84299	4.906000	0.63293	2.066000	0.61787	0.533000	0.62120	GAG		0.418	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			G	20404157	A	G	20404157	3	3	54	1	0	0	0	0	1	0	0	0	11069	304	11	3	334	3	OR4K1	14	20404157	Missense_Mutation	SNP	A	TCGA-A3-3370-01A-02D-1421-08	184	20404157	86945383	26	3950											
AMN	81693	broad.mit.edu	37	14	103394801	103394801	+	Silent	SNP	A	A	T			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr14:103394801A>T	ENST00000299155.5	+	4	279	c.246A>T	c.(244-246)ggA>ggT	p.G82G		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	82					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.G82G(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCTTCAGGAGCCGGATTCG	0.726																																																1	Substitution - coding silent(1)	kidney(1)											16	16	16					14																	103394801		2193	4289	6482	SO:0001819	synonymous_variant	81693			AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.246A>T	14.37:g.103394801A>T			Q6UX83	Silent	SNP	ENST00000299155.5	37	CCDS9977.1																																																																																				0.726	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			T	103394801	A	T	103394801	2	4	54	1	0	0	0	0	0	0	0	1	580	291	11	5		5	AMN	14	103394801	Silent	SNP	A	TCGA-A3-3370-01A-02D-1421-08	82990644	103394801	3954739	27	3951											
AP4E1	23431	hgsc.bcm.edu;ucsc.edu	37	15	51276219	51276221	+	Splice_Site	DEL	TTC	TTC	-			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr15:51276219_51276221delTTC	ENST00000261842.5	+	16	2073_2075	c.1967_1969delTTC	c.(1966-1971)gttctc>gtc	p.L657del	AP4E1_ENST00000560508.1_Splice_Site_p.L582del	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	657					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AAAATTCTAGTTCTCAATTTTGA	0.36																																																0																																										SO:0001630	splice_region_variant	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1967-1TTC>-	15.37:g.51276219_51276221delTTC			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Frame_Shift_Del	DEL	ENST00000261842.5	37	CCDS32240.1																																																																																				0.36	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		In_Frame_Del	-	51276221	TTC	-	51276219	8	5	54	1	0	1	0	1	0	0	1	0	752	1739	60	0	2029	0	AP4E1	15	51276219	Splice_Site	DEL	TTC	TCGA-A3-3370-01A-02D-1421-08		51276219	51255173	28	3952											
DMXL2	23312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51837940	51837940	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr15:51837940A>C	ENST00000251076.5	-	8	1057	c.770T>G	c.(769-771)tTa>tGa	p.L257*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.L257*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.L257*|DMXL2_ENST00000560421.1_5'Flank	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	257						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.L257*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACATGAAGTTAACAACACATT	0.378																																																1	Substitution - Nonsense(1)	kidney(1)											119	119	119					15																	51837940		2195	4293	6488	SO:0001587	stop_gained	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.770T>G	15.37:g.51837940A>C	ENSP00000251076:p.Leu257*		B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852458	0.71719	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.86	4.73	0.59995	.	0.065802	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9671	0.53042	0.9321:0.0:0.0679:0.0	.	.	.	.	X	257	.	ENSP00000251076:L257X	L	-	2	0	DMXL2	49625232	1.000000	0.71417	0.171000	0.22900	0.178000	0.23041	8.910000	0.92685	1.043000	0.40175	-0.290000	0.09829	TTA		0.378	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		C	51837940	A	C	51837940	4	2	54	1	0	0	0	0	0	1	0	0	4597	372	13	5	8487	5	DMXL2	15	51837940	Nonsense_Mutation	SNP	A	TCGA-A3-3370-01A-02D-1421-08	561721	51837940	50693452	29	3953											
LYSMD4	145748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	100269538	100269538	+	Silent	SNP	C	C	T	rs150607972		TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr15:100269538C>T	ENST00000409796.1	-	3	743	c.681G>A	c.(679-681)ctG>ctA	p.L227L	LYSMD4_ENST00000545021.1_Silent_p.L101L|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000344791.2_Silent_p.L228L|LYSMD4_ENST00000332728.4_Silent_p.L227L	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	227						integral component of membrane (GO:0016021)		p.L228L(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			CAATACCAATCAGCAGCATGA	0.478																																																1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	171	160	164		684	-7.4	0.2	15	dbSNP_134	164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LYSMD4	NM_152449.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		228/298	100269538	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	145748			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.681G>A	15.37:g.100269538C>T			A6NII6|A8K2N1|Q96LY7	Silent	SNP	ENST00000409796.1	37																																																																																					0.478	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		T	100269538	C	T	100269538	2	4	54	1	0	0	0	0	0	0	0	1	9129	813	29	2		2	LYSMD4	15	100269538	Silent	SNP	C	TCGA-A3-3370-01A-02D-1421-08	48431598	100269538	2261854	30	3954											
CACNG3	10368	broad.mit.edu;ucsc.edu	37	16	24268220	24268220	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr16:24268220G>A	ENST00000005284.3	+	1	1347	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	49					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.E49K(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AAGTGATAATGAAACCAGCAG	0.443																																																1	Substitution - Missense(1)	kidney(1)											136	130	132					16																	24268220		2197	4300	6497	SO:0001583	missense	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.145G>A	16.37:g.24268220G>A	ENSP00000005284:p.Glu49Lys			Missense_Mutation	SNP	ENST00000005284.3	37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293228	0.80914	.	.	ENSG00000006116	ENST00000005284	T	0.56103	0.48	5.49	5.49	0.81192	.	0.060011	0.64402	D	0.000003	T	0.53094	0.1775	M	0.64997	1.995	0.80722	D	1	P	0.36683	0.565	B	0.40256	0.324	T	0.46707	-0.9172	10	0.09843	T	0.71	-13.832	18.1171	0.89559	0.0:0.0:1.0:0.0	.	49	O60359	CCG3_HUMAN	K	49	ENSP00000005284:E49K	ENSP00000005284:E49K	E	+	1	0	CACNG3	24175721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.865000	0.98341	0.655000	0.94253	GAA		0.443	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		A	24268220	G	A	24268220	3	1	54	1	0	0	0	0	1	0	0	0	2560	1291	45	2	147	2	CACNG3	16	24268220	Missense_Mutation	SNP	G	TCGA-A3-3370-01A-02D-1421-08		24268220	66086533	31	3955											
NLRC5	84166	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57060312	57060312	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr16:57060312C>G	ENST00000262510.6	+	6	1682	c.1457C>G	c.(1456-1458)gCt>gGt	p.A486G	NLRC5_ENST00000539144.1_Missense_Mutation_p.A486G|NLRC5_ENST00000436936.1_Missense_Mutation_p.A486G|NLRC5_ENST00000308149.7_Missense_Mutation_p.A486G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	486	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.A486G(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCCTTGATAGCTTTTGGGGCC	0.592																																																1	Substitution - Missense(1)	kidney(1)											43	42	42					16																	57060312		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1457C>G	16.37:g.57060312C>G	ENSP00000262510:p.Ala486Gly		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.363|6.363	0.435081|0.435081	0.12045|0.12045	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144|ENST00000538805	D;D;D;D|.	0.83914|.	-1.78;-1.78;-1.78;-1.78|.	5.4|5.4	3.43|3.43	0.39272|0.39272	.|.	0.238257|.	0.21782|.	N|.	0.069185|.	T|T	0.28001|0.28001	0.0690|0.0690	L|L	0.35644|0.35644	1.08|1.08	0.20489|0.20489	N|N	0.999891|0.999891	B;B;B;B|.	0.29862|.	0.259;0.259;0.125;0.189|.	B;B;B;B|.	0.32980|.	0.156;0.156;0.037;0.065|.	T|T	0.21211|0.21211	-1.0252|-1.0252	10|5	0.44086|.	T|.	0.13|.	.|.	4.1034|4.1034	0.10025|0.10025	0.2987:0.4926:0.1304:0.0783|0.2987:0.4926:0.1304:0.0783	.|.	486;486;486;486|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	G|R	486|238	ENSP00000262510:A486G;ENSP00000308886:A486G;ENSP00000389739:A486G;ENSP00000441727:A486G|.	ENSP00000262510:A486G|.	A|S	+|+	2|3	0|2	NLRC5|NLRC5	55617813|55617813	0.527000|0.527000	0.26306|0.26306	0.032000|0.032000	0.17829|0.17829	0.057000|0.057000	0.15508|0.15508	0.965000|0.965000	0.29319|0.29319	0.640000|0.640000	0.30582|0.30582	0.561000|0.561000	0.74099|0.74099	GCT|AGC		0.592	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		G	57060312	C	G	57060312	3	3	54	1	0	0	0	0	1	0	0	0	10472	797	28	4	1471	4	NLRC5	16	57060312	Missense_Mutation	SNP	C	TCGA-A3-3370-01A-02D-1421-08	32792092	57060312	33294441	32	3956											
SLFN11	91607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33679558	33679558	+	Silent	SNP	T	T	C			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr17:33679558T>C	ENST00000394566.1	-	7	2795	c.2523A>G	c.(2521-2523)gcA>gcG	p.A841A	SLFN11_ENST00000308377.4_Silent_p.A841A	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	841					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.A841A(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATATCACATGCATCACTGA	0.483																																																1	Substitution - coding silent(1)	kidney(1)											279	237	251					17																	33679558		2203	4300	6503	SO:0001819	synonymous_variant	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2523A>G	17.37:g.33679558T>C			E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	CCDS11294.1																																																																																				0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		C	33679558	T	C	33679558	2	2	54	1	0	0	0	0	0	0	0	1	14739	1451	51	3		3	SLFN11	17	33679558	Silent	SNP	T	TCGA-A3-3370-01A-02D-1421-08		33679558	47515652	33	3957											
AOC2	314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40997011	40997011	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr17:40997011T>C	ENST00000253799.3	+	1	395	c.368T>C	c.(367-369)aTc>aCc	p.I123T	AOC2_ENST00000452774.2_Missense_Mutation_p.I123T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	123					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.I123T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GCACTGGCCATCGTCCTCTTT	0.657																																																1	Substitution - Missense(1)	kidney(1)											32	31	32					17																	40997011		2203	4299	6502	SO:0001583	missense	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.368T>C	17.37:g.40997011T>C	ENSP00000253799:p.Ile123Thr		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.782516	0.31502	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.38560	1.13;1.13	5.01	3.93	0.45458	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.063958	0.64402	D	0.000009	T	0.49287	0.1548	N	0.26162	0.8	0.40838	D	0.983641	P;B	0.37548	0.599;0.317	P;B	0.62382	0.901;0.126	T	0.47235	-0.9133	10	0.36615	T	0.2	-35.6461	10.5516	0.45092	0.0:0.0759:0.0:0.9241	.	123;123	O75106;O75106-2	AOC2_HUMAN;.	T	123	ENSP00000253799:I123T;ENSP00000406134:I123T	ENSP00000253799:I123T	I	+	2	0	AOC2	38250537	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	5.796000	0.69080	0.929000	0.37192	0.460000	0.39030	ATC		0.657	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		C	40997011	T	C	40997011	3	2	54	1	0	0	0	0	1	0	0	0	727	1435	50	3	370	3	AOC2	17	40997011	Missense_Mutation	SNP	T	TCGA-A3-3370-01A-02D-1421-08	7317453	40997011	40198199	34	3958											
CLTC	1213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57737836	57737836	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr17:57737836G>A	ENST00000269122.3	+	7	1328	c.1054G>A	c.(1054-1056)Gct>Act	p.A352T	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A352T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	352	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.A352T(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCTGAGAATGGCTGTACGTAA	0.423			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	1	Substitution - Missense(1)	kidney(1)											185	193	190					17																	57737836		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1054G>A	17.37:g.57737836G>A	ENSP00000269122:p.Ala352Thr		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793433	0.70452	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.60424	0.19;0.19	5.92	5.92	0.95590	Clathrin, heavy chain, linker, core motif (1);Armadillo-type fold (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	D	0.83977	0.5371	H	0.94345	3.525	0.80722	D	1	D;D	0.69078	0.997;0.988	D;D	0.83275	0.996;0.964	D	0.87094	0.2174	10	0.66056	D	0.02	.	20.3151	0.98650	0.0:0.0:1.0:0.0	.	352;352	Q00610;Q00610-2	CLH1_HUMAN;.	T	352	ENSP00000269122:A352T;ENSP00000376763:A352T	ENSP00000269122:A352T	A	+	1	0	CLTC	55092618	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.809000	0.96659	0.467000	0.42956	GCT		0.423	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		A	57737836	G	A	57737836	3	1	54	1	0	0	0	0	1	0	0	0	3568	1203	42	2	1080	2	CLTC	17	57737836	Missense_Mutation	SNP	G	TCGA-A3-3370-01A-02D-1421-08	16740825	57737836	23457374	35	3959											
CCDC40	55036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78059827	78059827	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr17:78059827T>A	ENST00000397545.4	+	14	2288	c.2261T>A	c.(2260-2262)cTt>cAt	p.L754H	CCDC40_ENST00000374877.3_Missense_Mutation_p.L754H	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	754					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.L754H(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCCCTGGAGCTTGAAATCAAA	0.567																																																2	Substitution - Missense(2)	kidney(2)											57	62	60					17																	78059827		1917	4116	6033	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2261T>A	17.37:g.78059827T>A	ENSP00000380679:p.Leu754His		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856467	0.71834	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.50548	0.74;0.75	4.73	4.73	0.59995	.	.	.	.	.	T	0.46619	0.1402	L	0.57536	1.79	0.39978	D	0.97487	B;B	0.27450	0.179;0.115	B;B	0.29353	0.047;0.101	T	0.49560	-0.8927	9	0.45353	T	0.12	-14.3054	14.2249	0.65853	0.0:0.0:0.0:1.0	.	754;537	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	H	754	ENSP00000364011:L754H;ENSP00000380679:L754H	ENSP00000364011:L754H	L	+	2	0	CCDC40	75674422	0.993000	0.37304	0.956000	0.39512	0.622000	0.37654	4.346000	0.59367	1.773000	0.52216	0.421000	0.28195	CTT		0.567	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		A	78059827	T	A	78059827	3	1	54	1	0	0	0	0	1	0	0	0	2814	1609	56	5	2315	5	CCDC40	17	78059827	Missense_Mutation	SNP	T	TCGA-A3-3370-01A-02D-1421-08	20321991	78059827	3135383	36	3960											
PAX1	5075	broad.mit.edu	37	20	21690005	21690005	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr20:21690005C>T	ENST00000398485.2	+	4	1259	c.1205C>T	c.(1204-1206)gCg>gTg	p.A402V	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A378V	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	402					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A402V(1)|p.A308V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCTCCTCTGGCGCCCCCCGGG	0.741																																																2	Substitution - Missense(2)	kidney(2)											8	11	10					20																	21690005		2000	3842	5842	SO:0001583	missense	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1205C>T	20.37:g.21690005C>T	ENSP00000381499:p.Ala402Val		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868291	0.72065	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98400	-4.48;-4.91	5.66	5.66	0.87406	.	3.300530	0.01317	N	0.010810	D	0.95765	0.8622	L	0.36672	1.1	0.25391	N	0.988522	P;B;P	0.44659	0.733;0.384;0.84	B;B;B	0.33392	0.131;0.038;0.163	D	0.88585	0.3139	10	0.35671	T	0.21	.	9.8774	0.41211	0.1538:0.6978:0.1484:0.0	.	378;308;402	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	V	402;378	ENSP00000381499:A402V;ENSP00000410355:A378V	ENSP00000381499:A402V	A	+	2	0	PAX1	21638005	0.999000	0.42202	0.826000	0.32828	0.724000	0.41520	3.780000	0.55386	2.667000	0.90743	0.462000	0.41574	GCG		0.741	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			T	21690005	C	T	21690005	3	4	54	1	0	0	0	0	1	0	0	0	11480	768	27	1	1219	1	PAX1	20	21690005	Missense_Mutation	SNP	C	TCGA-A3-3370-01A-02D-1421-08		21690005	41335515	37	3961											
SLC2A10	81031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	45355557	45355557	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr20:45355557T>A	ENST00000359271.2	+	3	1593	c.1343T>A	c.(1342-1344)tTc>tAc	p.F448Y		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	448					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)	p.F448Y(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGAAGAGCCTTCGCCTTCTGC	0.567																																																1	Substitution - Missense(1)	kidney(1)											162	146	151					20																	45355557		2203	4300	6503	SO:0001583	missense	81031			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1343T>A	20.37:g.45355557T>A	ENSP00000352216:p.Phe448Tyr		A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.155815	0.57259	.	.	ENSG00000197496	ENST00000359271	T	0.74106	-0.81	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050750	0.85682	D	0.000000	T	0.77758	0.4178	L	0.35854	1.095	0.44289	D	0.997159	D	0.56968	0.978	D	0.66716	0.946	T	0.72040	-0.4410	10	0.08381	T	0.77	0.7118	16.1525	0.81632	0.0:0.0:0.0:1.0	.	448	O95528	GTR10_HUMAN	Y	448	ENSP00000352216:F448Y	ENSP00000352216:F448Y	F	+	2	0	SLC2A10	44788964	1.000000	0.71417	0.997000	0.53966	0.254000	0.26022	5.847000	0.69451	2.211000	0.71520	0.383000	0.25322	TTC		0.567	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			A	45355557	T	A	45355557	3	1	54	1	0	0	0	0	1	0	0	0	14545	1783	62	5	1353	5	SLC2A10	20	45355557	Missense_Mutation	SNP	T	TCGA-A3-3370-01A-02D-1421-08	23665552	45355557	17669963	38	3962											
TIAM1	7074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	32638828	32638828	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr21:32638828G>A	ENST00000286827.3	-	5	932	c.461C>T	c.(460-462)tCc>tTc	p.S154F	TIAM1_ENST00000541036.1_Missense_Mutation_p.S154F|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	154					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S154F(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGGCCCATTGGATGTATAGGA	0.537																																																2	Substitution - Missense(2)	kidney(2)											109	102	104					21																	32638828		2203	4300	6503	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.461C>T	21.37:g.32638828G>A	ENSP00000286827:p.Ser154Phe		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290881	0.40494	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.44083	0.95;0.93	5.59	5.59	0.84812	.	0.295752	0.29106	N	0.013125	T	0.32285	0.0824	N	0.14661	0.345	0.30841	N	0.735635	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.32534	-0.9903	10	0.87932	D	0	.	19.5961	0.95538	0.0:0.0:1.0:0.0	.	154;154;154	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	F	154	ENSP00000286827:S154F;ENSP00000441570:S154F	ENSP00000286827:S154F	S	-	2	0	TIAM1	31560699	1.000000	0.71417	0.716000	0.30569	0.938000	0.57974	6.451000	0.73481	2.621000	0.88768	0.591000	0.81541	TCC		0.537	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		A	32638828	G	A	32638828	3	1	54	1	0	0	0	0	1	0	0	0	15895	1174	41	2	4414	2	TIAM1	21	32638828	Missense_Mutation	SNP	G	TCGA-A3-3370-01A-02D-1421-08		32638828	15491067	39	3963											
SFRS15	57466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33043798	33043798	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chr21:33043798T>A	ENST00000286835.7	-	20	3740	c.3358A>T	c.(3358-3360)Aag>Tag	p.K1120*	SCAF4_ENST00000399804.1_Nonsense_Mutation_p.K1098*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.K1105*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1120						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K1120*(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAGAAGGCTTTAGGACTGCA	0.507																																																1	Substitution - Nonsense(1)	kidney(1)											108	98	101					21																	33043798		2203	4300	6503	SO:0001587	stop_gained	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3358A>T	21.37:g.33043798T>A	ENSP00000286835:p.Lys1120*		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Nonsense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	38	7.031395	0.98013	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.82	4.65	0.58169	.	0.930942	0.09049	N	0.856155	.	.	.	.	.	.	0.51482	D	0.999922	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6924	13.1361	0.59409	0.0:0.0:0.1336:0.8663	.	.	.	.	X	1105;1120;1098	.	ENSP00000286835:K1120X	K	-	1	0	SCAF4	31965669	0.987000	0.35691	0.027000	0.17364	0.077000	0.17291	3.922000	0.56462	1.011000	0.39340	0.533000	0.62120	AAG		0.507	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		A	33043798	T	A	33043798	4	1	54	1	0	0	0	0	0	1	0	0	14177	1850	64	5	89	5	SFRS15	21	33043798	Nonsense_Mutation	SNP	T	TCGA-A3-3370-01A-02D-1421-08	404970	33043798	15086097	40	3964											
USP9X	8239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	41091721	41091721	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chrX:41091721C>G	ENST00000324545.8	+	45	8290	c.7657C>G	c.(7657-7659)Caa>Gaa	p.Q2553E	USP9X_ENST00000378308.2_Missense_Mutation_p.Q2537E|RP5-1172N10.4_ENST00000602481.1_RNA	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2553					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.Q2530E(1)|p.Q2553E(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCAACGAGCACAAGAAAATTA	0.458																																					Ovarian(172;1807 2695 35459 49286)											2	Substitution - Missense(2)	kidney(2)											120	101	107					X																	41091721		2203	4300	6503	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7657C>G	X.37:g.41091721C>G	ENSP00000316357:p.Gln2553Glu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299611	0.40694	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03358	3.96;4.04	5.79	5.79	0.91817	.	0.181090	0.49916	D	0.000137	T	0.11153	0.0272	L	0.40543	1.245	0.58432	D	0.999998	P;B	0.43578	0.811;0.378	P;B	0.54924	0.764;0.042	T	0.01039	-1.1472	10	0.66056	D	0.02	.	18.9421	0.92608	0.0:1.0:0.0:0.0	.	2537;2553	Q93008-1;Q93008	.;USP9X_HUMAN	E	2537;2553	ENSP00000367558:Q2537E;ENSP00000316357:Q2553E	ENSP00000316357:Q2553E	Q	+	1	0	USP9X	40976665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.890000	0.75633	2.422000	0.82143	0.594000	0.82650	CAA		0.458	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		G	41091721	C	G	41091721	3	3	54	1	0	0	0	0	1	0	0	0	17095	479	17	4	7831	4	USP9X	23	41091721	Missense_Mutation	SNP	C	TCGA-A3-3370-01A-02D-1421-08		41091721	114178839	41	3965											
MSN	4478	broad.mit.edu	37	X	64958995	64958995	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3370-01A-02D-1421-08	TCGA-A3-3370-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce7121-87b4-4686-9bf6-aff71d8b2223	969705aa-a77d-4084-a692-59819d33068e	g.chrX:64958995G>A	ENST00000360270.5	+	12	1680	c.1508G>A	c.(1507-1509)cGc>cAc	p.R503H		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	503					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.R503H(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GCCAAGGACCGCAGTGAGGAG	0.547			T	ALK	ALCL																																		Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Substitution - Missense(1)	kidney(1)											92	58	70					X																	64958995		2203	4300	6503	SO:0001583	missense	4478			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1508G>A	X.37:g.64958995G>A	ENSP00000353408:p.Arg503His			Missense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	g	28.7	4.939996	0.92526	.	.	ENSG00000147065	ENST00000360270	D	0.89270	-2.49	5.36	5.36	0.76844	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	M	0.84082	2.675	0.80722	D	1	B	0.28820	0.224	B	0.30572	0.117	D	0.89397	0.3693	10	0.52906	T	0.07	.	16.6317	0.85035	0.0:0.0:1.0:0.0	.	503	P26038	MOES_HUMAN	H	503	ENSP00000353408:R503H	ENSP00000353408:R503H	R	+	2	0	MSN	64875720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.757000	0.98924	2.242000	0.73789	0.519000	0.50382	CGC		0.547	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		A	64958995	G	A	64958995	3	1	54	1	0	0	0	0	1	0	0	0	9887	1087	38	1	1554	1	MSN	23	64958995	Missense_Mutation	SNP	G	TCGA-A3-3370-01A-02D-1421-08	23867274	64958995	90311565	42	3966											
CD101	9398	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	117564261	117564261	+	Missense_Mutation	SNP	T	T	C	rs371723692		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr1:117564261T>C	ENST00000256652.4	+	7	2142	c.2084T>C	c.(2083-2085)aTa>aCa	p.I695T	CD101_ENST00000369470.1_Missense_Mutation_p.I695T	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	695	Ig-like C2-type 6.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.I695T(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACACTGATATAGAATGTAGC	0.383																																																1	Substitution - Missense(1)	kidney(1)						T	THR/ILE	0,4406		0,0,2203	84	78	80		2084	4.9	0.9	1		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD101	NM_004258.3	89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	695/1022	117564261	1,13005	2203	4300	6503	SO:0001583	missense	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2084T>C	1.37:g.117564261T>C	ENSP00000256652:p.Ile695Thr		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330642	0.41297	0.0	1.16E-4	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.03094	4.05;4.05	4.86	4.86	0.63082	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101407	0.43747	D	0.000522	T	0.05364	0.0142	M	0.77616	2.38	0.36811	D	0.885876	P	0.45348	0.856	P	0.48368	0.575	T	0.02698	-1.1122	10	0.87932	D	0	-16.0452	10.7779	0.46361	0.0:0.0:0.0:1.0	.	695	Q93033	IGSF2_HUMAN	T	695	ENSP00000256652:I695T;ENSP00000358482:I695T	ENSP00000256652:I695T	I	+	2	0	CD101	117365784	0.999000	0.42202	0.944000	0.38274	0.267000	0.26476	5.156000	0.64905	2.038000	0.60285	0.533000	0.62120	ATA		0.383	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		C	117564261	T	C	117564261	3	2	55	1	0	0	0	0	1	0	0	0	2964	1406	49	3	2110	3	CD101	1	117564261	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08		117564261	131686360	1	3967											
C1orf156	92342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169762230	169762230	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr1:169762230T>G	ENST00000310392.4	-	2	960	c.607A>C	c.(607-609)Ata>Cta	p.I203L	METTL18_ENST00000303469.2_Missense_Mutation_p.I203L|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000359326.4_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	203						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.I203L(1)		kidney(1)|large_intestine(3)|lung(4)	8						AATGCAGTTATACCTAGTAAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											126	128	128					1																	169762230		2203	4299	6502	SO:0001583	missense	0			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"histidine protein methyltransferase 1"	615255	"chromosome 1 open reading frame 156"	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.607A>C	1.37:g.169762230T>G	ENSP00000307975:p.Ile203Leu		B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336226	0.41398	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	D;D	0.82711	-1.64;-1.64	5.96	4.82	0.62117	.	0.050924	0.85682	N	0.000000	T	0.61476	0.2350	L	0.33753	1.03	0.58432	D	0.999994	B	0.21381	0.055	B	0.32928	0.155	T	0.56541	-0.7962	10	0.12430	T	0.62	-0.3404	11.446	0.50123	0.1352:0.0:0.0:0.8648	.	203	O95568	MET18_HUMAN	L	203	ENSP00000307975:I203L;ENSP00000307077:I203L	ENSP00000307077:I203L	I	-	1	0	METTL18	168028854	1.000000	0.71417	0.984000	0.44739	0.652000	0.38707	4.790000	0.62453	1.039000	0.40074	0.533000	0.62120	ATA		0.393	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		G	169762230	T	G	169762230	3	3	55	1	0	0	0	0	1	0	0	0	2008	1406	49	5	515	5	C1orf156	1	169762230	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08	52197969	169762230	79488391	2	3968											
TMEM206	55248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	212538685	212538685	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr1:212538685G>T	ENST00000261455.4	-	8	1062	c.925C>A	c.(925-927)Ctt>Att	p.L309I	TMEM206_ENST00000535273.1_Missense_Mutation_p.L370I	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	309						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.L309I(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CCACAGAGAAGAGCAATTGTG	0.358																																																1	Substitution - Missense(1)	kidney(1)											131	132	132					1																	212538685		2203	4300	6503	SO:0001583	missense	55248			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 75"	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.925C>A	1.37:g.212538685G>T	ENSP00000261455:p.Leu309Ile		B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848703	0.71603	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.91	5.91	0.95273	.	0.108835	0.64402	D	0.000006	T	0.63307	0.2500	N	0.14661	0.345	0.49130	D	0.999751	P;D	0.71674	0.577;0.998	B;D	0.77557	0.121;0.99	T	0.62877	-0.6761	9	0.33940	T	0.23	-24.6622	20.3018	0.98617	0.0:0.0:1.0:0.0	.	370;309	B7Z4D6;Q9H813	.;TM206_HUMAN	I	309;370	.	ENSP00000261455:L309I	L	-	1	0	TMEM206	210605308	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	4.569000	0.60865	2.799000	0.96334	0.650000	0.86243	CTT		0.358	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		T	212538685	G	T	212538685	3	4	55	1	0	0	0	0	1	0	0	0	16136	942	33	4	131	4	TMEM206	1	212538685	Missense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08	42776455	212538685	36711936	3	3969											
NOL10	79954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	10811743	10811743	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:10811743delG	ENST00000381685.5	-	6	506	c.401delC	c.(400-402)ccafs	p.P134fs	NOL10_ENST00000542668.1_Frame_Shift_Del_p.P84fs|NOL10_ENST00000345985.3_Frame_Shift_Del_p.P134fs|NOL10_ENST00000538384.1_Frame_Shift_Del_p.P108fs	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	134						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CCCAAACTTTGGTATTCTGGT	0.343																																																0													91	90	90					2																	10811743		2203	4299	6502	SO:0001589	frameshift_variant	79954			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.401delC	2.37:g.10811743delG	ENSP00000371101:p.Pro134fs		A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Frame_Shift_Del	DEL	ENST00000381685.5	37	CCDS1673.2																																																																																				0.343	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		-	10811743	G	-	10811743	7	5	55	1	0	1	0	1	0	0	0	0	10522	1348	47	0	1729	0	NOL10	2	10811743	Frame_Shift_Del	DEL	G	TCGA-A3-3373-01A-02D-1421-08		10811743	232387630	4	3970											
SLC8A1	6546	broad.mit.edu;hgsc.bcm.edu	37	2	40342426	40342426	+	Silent	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:40342426G>A	ENST00000403092.1	-	11	2922	c.2889C>T	c.(2887-2889)tcC>tcT	p.S963S	SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.S963S|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.S927S|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.S958S|SLC8A1_ENST00000408028.2_Silent_p.S955S|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.S927S|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.S927S|SLC8A1_ENST00000406785.2_Silent_p.S927S|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.S958S|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.S927S|SLC8A1-AS1_ENST00000599956.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	963					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S963S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGGCCTCCAGGGAGGAGAAGA	0.428																																																1	Substitution - coding silent(1)	kidney(1)											44	50	48					2																	40342426		2203	4300	6503	SO:0001819	synonymous_variant	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2889C>T	2.37:g.40342426G>A			A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	CCDS1806.1																																																																																				0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		A	40342426	G	A	40342426	2	1	55	1	0	0	0	0	0	0	0	1	14712	1219	43	2		2	SLC8A1	2	40342426	Silent	SNP	G	TCGA-A3-3373-01A-02D-1421-08	29530683	40342426	202856947	5	3971											
EHBP1	23301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63169917	63169917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:63169917G>A	ENST00000263991.5	+	12	1837	c.1355G>A	c.(1354-1356)tGg>tAg	p.W452*	EHBP1_ENST00000354487.3_Nonsense_Mutation_p.W417*|EHBP1_ENST00000405289.1_Nonsense_Mutation_p.W417*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.W417*|EHBP1_ENST00000405015.3_Nonsense_Mutation_p.W417*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	452	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|membrane (GO:0016020)		p.W452*(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTGCTTGTATGGTGTAAAGAA	0.363																																																1	Substitution - Nonsense(1)	kidney(1)											80	83	82					2																	63169917		2203	4300	6503	SO:0001587	stop_gained	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1355G>A	2.37:g.63169917G>A	ENSP00000263991:p.Trp452*		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Nonsense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	44	10.928920	0.99490	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	417;417;452;417;417	.	ENSP00000263991:W452X	W	+	2	0	EHBP1	63023421	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	TGG		0.363	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		A	63169917	G	A	63169917	4	1	55	1	0	0	0	0	0	1	0	0	4977	1357	47	2	1397	2	EHBP1	2	63169917	Nonsense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08	22827491	63169917	180029456	6	3972											
MBD5	55777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	149227852	149227852	+	Silent	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:149227852T>G	ENST00000407073.1	+	9	3337	c.2340T>G	c.(2338-2340)ctT>ctG	p.L780L	MBD5_ENST00000404807.1_Silent_p.L780L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	780					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.L780L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACCACCATCTTGCAGGTTTAA	0.473																																																1	Substitution - coding silent(1)	kidney(1)											133	123	127					2																	149227852		2203	4300	6503	SO:0001819	synonymous_variant	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2340T>G	2.37:g.149227852T>G			A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	T	2.041	-0.419944	0.04734	.	.	ENSG00000204406	ENST00000416015	T	0.48522	0.81	4.96	3.8	0.43715	.	0.000000	0.52532	D	0.000064	T	0.51075	0.1653	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51718	-0.8670	7	0.59425	D	0.04	-6.4971	5.3116	0.15833	0.0:0.159:0.1512:0.6897	.	.	.	.	W	520	ENSP00000393168:L520W	ENSP00000393168:L520W	L	+	2	0	MBD5	148944322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.783000	0.26802	1.022000	0.39626	0.533000	0.62120	TTG		0.473	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			G	149227852	T	G	149227852	2	3	55	1	0	0	0	0	0	0	0	1	9349	1799	63	5		5	MBD5	2	149227852	Silent	SNP	T	TCGA-A3-3373-01A-02D-1421-08	86057935	149227852	93971521	7	3973											
SCN1A	6323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	166898839	166898839	+	Silent	SNP	T	T	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:166898839T>C	ENST00000303395.4	-	12	2138	c.2139A>G	c.(2137-2139)gcA>gcG	p.A713A	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.A702A|SCN1A_ENST00000423058.2_Silent_p.A713A|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.A685A			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	713					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.A713A(1)|p.A702A(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTATACTCATTGCTCGTTGCC	0.363																																																2	Substitution - coding silent(2)	kidney(2)											152	143	146					2																	166898839		2203	4300	6503	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2139A>G	2.37:g.166898839T>C			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																				0.363	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		C	166898839	T	C	166898839	2	2	55	1	0	0	0	0	0	0	0	1	13920	1799	63	3		3	SCN1A	2	166898839	Silent	SNP	T	TCGA-A3-3373-01A-02D-1421-08	17670987	166898839	76300534	8	3974											
MAP2	4133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	210561004	210561004	+	Silent	SNP	C	C	T	rs147926728		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr2:210561004C>T	ENST00000360351.4	+	7	4616	c.4110C>T	c.(4108-4110)gaC>gaT	p.D1370D	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.D1366D	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1370					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.D1370D(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAACCTATGACGATTACAAAG	0.458																																					Pancreas(27;423 979 28787 29963)											1	Substitution - coding silent(1)	kidney(1)						T	,,,	2,4404	4.2+/-10.8	0,2,2201	73	84	80		,4110,,	-10.5	0.1	2	dbSNP_134	80	0,8600		0,0,4300	no	intron,coding-synonymous,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	,1370/1828,,	210561004	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4110C>T	2.37:g.210561004C>T			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		T	210561004	C	T	210561004	2	4	55	1	0	0	0	0	0	0	0	1	9237	535	19	1		1	MAP2	2	210561004	Silent	SNP	C	TCGA-A3-3373-01A-02D-1421-08	43662165	210561004	32638369	9	3975											
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183794	10183794	+	Nonsense_Mutation	SNP	G	G	A	rs119103277		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:10183794G>A	ENST00000256474.2	+	1	1103	c.263G>A	c.(262-264)tGg>tAg	p.W88*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.W88*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	88			W -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|W -> S (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W88*(6)|p.W88L(3)|p.W88fs*71(3)|p.V87_W88del(2)|p.W88S(2)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGCCCGTATGGCTCAACTTC	0.726		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	19	Substitution - Nonsense(6)|Substitution - Missense(5)|Deletion - Frameshift(5)|Deletion - In frame(2)|Complex - deletion inframe(1)	kidney(17)|endometrium(1)|soft_tissue(1)	GRCh37	CM951277|HX971376	VHL	M|X	rs119103277						13	16	15					3																	10183794		2111	4166	6277	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.263G>A	3.37:g.10183794G>A	ENSP00000256474:p.Trp88*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.880416	0.97062	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5857	16.0203	0.80478	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000256474:W88X	W	+	2	0	VHL	10158794	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	5.961000	0.70356	2.368000	0.80403	0.479000	0.44913	TGG		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183794	G	A	10183794	4	1	55	1	0	0	0	0	0	1	0	0	17167	1357	47	2	265	2	VHL	3	10183794	Nonsense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08		10183794	187838636	10	3976											
CYP8B1	1582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	42917124	42917124	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:42917124G>C	ENST00000316161.4	-	1	509	c.185C>G	c.(184-186)aCc>aGc	p.T62S	CYP8B1_ENST00000437102.1_Missense_Mutation_p.T62S|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	62					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.T62S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCCATGCTTGGTCCTCATGCG	0.562																																																1	Substitution - Missense(1)	kidney(1)											77	69	72					3																	42917124		2203	4300	6503	SO:0001583	missense	1582			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.185C>G	3.37:g.42917124G>C	ENSP00000318867:p.Thr62Ser		B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.925779	0.00493	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.68025	-0.3;-0.3	5.04	-0.114	0.13564	.	1.006490	0.07980	N	0.985383	T	0.35885	0.0947	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.006	T	0.21245	-1.0251	10	0.44086	T	0.13	-7.2934	4.1158	0.10081	0.073:0.1964:0.3862:0.3445	.	62;62	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	S	62	ENSP00000404499:T62S;ENSP00000318867:T62S	ENSP00000318867:T62S	T	-	2	0	CYP8B1	42892128	0.000000	0.05858	0.033000	0.17914	0.023000	0.10783	0.563000	0.23547	0.041000	0.15688	-2.921000	0.00090	ACC		0.562	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		C	42917124	G	C	42917124	3	2	55	1	0	0	0	0	1	0	0	0	4200	1261	44	4	1324	4	CYP8B1	3	42917124	Missense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08	32733330	42917124	155105306	11	3977											
SLC25A20	788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48900024	48900024	+	Silent	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:48900024C>T	ENST00000319017.4	-	5	684	c.486G>A	c.(484-486)gaG>gaA	p.E162E	SLC25A20_ENST00000544097.1_Silent_p.E112E|SLC25A20_ENST00000430379.1_Silent_p.E89E	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	162					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.E162E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GGATCCCAAACTCCTGGTACA	0.517																																																1	Substitution - coding silent(1)	kidney(1)											131	113	119					3																	48900024		2203	4300	6503	SO:0001819	synonymous_variant	788			Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"Solute carriers"	1421	protein-coding gene	gene with protein product	"carnitine-acylcarnitine carrier", "carnitine/acylcarnitine translocase"	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.486G>A	3.37:g.48900024C>T			B2R7F4|Q9UIQ2	Silent	SNP	ENST00000319017.4	37	CCDS2779.1																																																																																				0.517	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		T	48900024	C	T	48900024	2	4	55	1	0	0	0	0	0	0	0	1	14489	564	20	2		2	SLC25A20	3	48900024	Silent	SNP	C	TCGA-A3-3373-01A-02D-1421-08	5982900	48900024	149122406	12	3978											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52682446	52682446	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:52682446T>A	ENST00000296302.7	-	7	728	c.727A>T	c.(727-729)Aaa>Taa	p.K243*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K243*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K243*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K243*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K243*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K243*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.K243*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K243*			Q86U86	PB1_HUMAN	polybromo 1	243	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K243*(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGAATACTTTTGTAGCTTCCA	0.328			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											159	155	156					3																	52682446		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.727A>T	3.37:g.52682446T>A	ENSP00000296302:p.Lys243*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	38	6.648921	0.97734	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.68	5.68	0.88126	.	0.160372	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8437	15.6013	0.76628	0.0:0.0:0.0:1.0	.	.	.	.	X	243;243;243;243;243;243;243;243;243;187	.	ENSP00000296302:K243X	K	-	1	0	PBRM1	52657486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.340000	0.79292	2.164000	0.68074	0.528000	0.53228	AAA		0.328	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52682446	T	A	52682446	4	1	55	1	0	0	0	0	0	1	0	0	11493	1821	63	5	4269	5	PBRM1	3	52682446	Nonsense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08	3782422	52682446	145339984	13	3979											
C3orf63	23272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	56667576	56667576	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:56667576C>A	ENST00000493960.2	-	18	3253	c.3243G>T	c.(3241-3243)ttG>ttT	p.L1081F	FAM208A_ENST00000355628.5_Missense_Mutation_p.L1020F|FAM208A_ENST00000431842.2_Missense_Mutation_p.L644F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1081							poly(A) RNA binding (GO:0044822)	p.L644F(1)|p.L1020F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GCTTCTCATGCAAACCATCTA	0.413																																																2	Substitution - Missense(2)	kidney(2)											85	91	89					3																	56667576		2203	4300	6503	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3243G>T	3.37:g.56667576C>A	ENSP00000417509:p.Leu1081Phe		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076866	0.55753	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.26223	1.75;1.9;1.88	5.71	0.867	0.19085	.	0.000000	0.56097	D	0.000027	T	0.44265	0.1285	M	0.67397	2.05	0.43238	D	0.995149	D;D;D;D	0.89917	0.998;1.0;0.983;0.99	D;D;D;P	0.76575	0.968;0.988;0.947;0.851	T	0.32640	-0.9899	10	0.62326	D	0.03	-6.3664	10.8388	0.46702	0.0:0.6782:0.0:0.3218	.	1081;1020;644;1081	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	F	644;1081;1020	ENSP00000399410:L644F;ENSP00000417509:L1081F;ENSP00000347845:L1020F	ENSP00000347845:L1020F	L	-	3	2	C3orf63	56642616	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	0.751000	0.26348	0.159000	0.19401	-0.142000	0.14014	TTG		0.413	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		A	56667576	C	A	56667576	3	1	55	1	0	0	0	0	1	0	0	0	2241	709	25	4	1857	4	C3orf63	3	56667576	Missense_Mutation	SNP	C	TCGA-A3-3373-01A-02D-1421-08	3985130	56667576	141354854	14	3980											
SLC15A2	6565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121647359	121647359	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:121647359A>C	ENST00000489711.1	+	15	1686	c.1298A>C	c.(1297-1299)aAt>aCt	p.N433T	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.N402T	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	433					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.N433T(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GTGGTGGGAAATGAAAACAAT	0.438																																																1	Substitution - Missense(1)	kidney(1)											185	193	190					3																	121647359		2203	4300	6503	SO:0001583	missense	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1298A>C	3.37:g.121647359A>C	ENSP00000417085:p.Asn433Thr		A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	A	0.669	-0.802606	0.02841	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.04234	3.67;3.67	5.65	3.16	0.36331	.	0.690295	0.16335	N	0.218958	T	0.02727	0.0082	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.16722	0.007;0.016	T	0.48779	-0.9005	10	0.12766	T	0.61	-1.9947	5.8567	0.18724	0.7485:0.1667:0.0848:0.0	.	402;433	B4E2A7;Q16348	.;S15A2_HUMAN	T	433;395;402	ENSP00000417085:N433T;ENSP00000295605:N402T	ENSP00000295605:N402T	N	+	2	0	SLC15A2	123130049	0.012000	0.17670	0.010000	0.14722	0.242000	0.25591	1.094000	0.30951	0.506000	0.28125	0.533000	0.62120	AAT		0.438	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		C	121647359	A	C	121647359	3	2	55	1	0	0	0	0	1	0	0	0	14405	101	4	5	1356	5	SLC15A2	3	121647359	Missense_Mutation	SNP	A	TCGA-A3-3373-01A-02D-1421-08	64979783	121647359	76375071	15	3981											
TFDP2	7029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141697381	141697381	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:141697381T>G	ENST00000489671.1	-	7	930	c.500A>C	c.(499-501)aAc>aCc	p.N167T	TFDP2_ENST00000477292.1_Missense_Mutation_p.N31T|TFDP2_ENST00000499676.2_Missense_Mutation_p.N106T|TFDP2_ENST00000486111.1_Missense_Mutation_p.N106T|TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000467072.1_Missense_Mutation_p.N106T|TFDP2_ENST00000310282.6_Missense_Mutation_p.N106T|TFDP2_ENST00000397991.4_Missense_Mutation_p.N139T|TFDP2_ENST00000495310.1_Missense_Mutation_p.N70T|TFDP2_ENST00000317104.7_Missense_Mutation_p.N90T|TFDP2_ENST00000479040.1_Missense_Mutation_p.N106T			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	167					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.N167T(1)		kidney(1)|upper_aerodigestive_tract(2)	3						AGCCAAATGGTTATTTGAATT	0.368																																																1	Substitution - Missense(1)	kidney(1)											176	167	170					3																	141697381		1990	4183	6173	SO:0001583	missense	7029			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.500A>C	3.37:g.141697381T>G	ENSP00000420616:p.Asn167Thr		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304448	0.40795	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000478006;ENST00000497579	T;T;T;T;T;T;T;T;T;T;T;T	0.45668	1.85;1.86;1.85;0.9;0.89;1.85;1.85;1.85;1.88;1.87;1.48;1.52	5.52	4.37	0.52481	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.112351	0.56097	D	0.000027	T	0.39036	0.1063	M	0.62723	1.935	0.43467	D	0.995679	B;P;B	0.35793	0.242;0.521;0.082	B;B;B	0.36766	0.232;0.138;0.085	T	0.25222	-1.0138	10	0.51188	T	0.08	-7.921	7.5102	0.27569	0.0:0.2432:0.0:0.7568	.	70;167;106	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	T	106;167;106;31;70;106;90;106;106;139;106;80;106	ENSP00000439782:N106T;ENSP00000420616:N167T;ENSP00000420599:N106T;ENSP00000418971:N31T;ENSP00000419036:N70T;ENSP00000418590:N106T;ENSP00000315668:N90T;ENSP00000309622:N106T;ENSP00000417585:N106T;ENSP00000381078:N139T;ENSP00000417726:N106T;ENSP00000417220:N106T	ENSP00000309622:N106T	N	-	2	0	TFDP2	143180071	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	2.946000	0.49050	0.941000	0.37499	0.528000	0.53228	AAC		0.368	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		G	141697381	T	G	141697381	3	3	55	1	0	0	0	0	1	0	0	0	15803	1725	60	5	871	5	TFDP2	3	141697381	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08	20050022	141697381	56325049	16	3982											
ATP13A3	79572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	194149610	194149610	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr3:194149610T>A	ENST00000439040.1	-	28	3702	c.2911A>T	c.(2911-2913)Att>Ttt	p.I971F	ATP13A3_ENST00000256031.4_Missense_Mutation_p.I971F			Q9H7F0	AT133_HUMAN	ATPase type 13A3	971						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.I971F(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCCAGATCAATGAAGAGAAAC	0.294																																																1	Substitution - Missense(1)	kidney(1)											60	57	58					3																	194149610		1810	4067	5877	SO:0001583	missense	79572			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2911A>T	3.37:g.194149610T>A	ENSP00000416508:p.Ile971Phe		Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779351	0.70107	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.90788	-2.73;-2.73	5.63	5.63	0.86233	.	0.048367	0.85682	D	0.000000	D	0.92215	0.7531	M	0.76170	2.325	0.80722	D	1	P	0.39847	0.691	P	0.48089	0.566	D	0.90194	0.4252	10	0.19590	T	0.45	-25.9652	15.3339	0.74234	0.0:0.0:0.0:1.0	.	971	Q9H7F0	AT133_HUMAN	F	971	ENSP00000416508:I971F;ENSP00000256031:I971F	ENSP00000256031:I971F	I	-	1	0	ATP13A3	195630899	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.746000	0.62133	2.279000	0.76181	0.533000	0.62120	ATT		0.294	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		A	194149610	T	A	194149610	3	1	55	1	0	0	0	0	1	0	0	0	1125	1464	51	5	793	5	ATP13A3	3	194149610	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08	52452229	194149610	3872820	17	3983											
SH3TC1	54436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8224578	8224578	+	Missense_Mutation	SNP	C	C	T	rs200988451	byFrequency	TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr4:8224578C>T	ENST00000245105.3	+	10	1191	c.1124C>T	c.(1123-1125)gCg>gTg	p.A375V	SH3TC1_ENST00000539824.1_Missense_Mutation_p.A299V	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	375								p.A375V(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TTGGAAAGTGCGATTTTTCTC	0.433													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21908	0.0		0.0	False		,,,				2504	0.0				NSCLC(145;2298 2623 35616 37297)											1	Substitution - Missense(1)	kidney(1)											57	56	56					4																	8224578		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1124C>T	4.37:g.8224578C>T	ENSP00000245105:p.Ala375Val		Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.529	-0.858583	0.02610	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.75589	-0.95;-0.93;0.55	4.31	-1.04	0.10068	Src homology-3 domain (1);	1.033790	0.07698	N	0.939833	T	0.50394	0.1613	N	0.10874	0.06	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28618	-1.0038	10	0.10111	T	0.7	-6.8965	8.2829	0.31910	0.0:0.4556:0.0:0.5444	.	375	Q8TE82	S3TC1_HUMAN	V	113;375;299;204;157	ENSP00000245105:A375V;ENSP00000441045:A299V;ENSP00000426035:A157V	ENSP00000245105:A375V	A	+	2	0	SH3TC1	8275478	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.197000	0.17197	-0.506000	0.06558	-0.367000	0.07326	GCG		0.433	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		T	8224578	C	T	8224578	3	4	55	1	0	0	0	0	1	0	0	0	14267	768	27	1	1158	1	SH3TC1	4	8224578	Missense_Mutation	SNP	C	TCGA-A3-3373-01A-02D-1421-08		8224578	182929698	18	3984											
UGT2B11	10720	broad.mit.edu;hgsc.bcm.edu	37	4	70066177	70066177	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr4:70066177T>G	ENST00000446444.1	-	6	1579	c.1571A>C	c.(1570-1572)aAg>aCg	p.K524T	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	524					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.K524T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTTCCCTTCTTCCCTTTTCT	0.368																																																1	Substitution - Missense(1)	kidney(1)											104	106	105					4																	70066177		2203	4297	6500	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1571A>C	4.37:g.70066177T>G	ENSP00000387683:p.Lys524Thr		Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	10.20	1.284713	0.23392	.	.	ENSG00000213759	ENST00000446444	T	0.61627	0.09	1.27	-0.0388	0.13878	.	0.433914	0.20041	U	0.100515	T	0.53367	0.1792	M	0.70595	2.14	0.22541	N	0.999001	B	0.26845	0.161	B	0.35899	0.213	T	0.51647	-0.8679	10	0.49607	T	0.09	.	4.7498	0.13056	0.2766:0.0:0.0:0.7234	.	524	O75310	UDB11_HUMAN	T	524	ENSP00000387683:K524T	ENSP00000387683:K524T	K	-	2	0	UGT2B11	70100766	0.137000	0.22531	0.032000	0.17829	0.007000	0.05969	0.063000	0.14410	0.004000	0.14682	-1.634000	0.00779	AAG		0.368	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		G	70066177	T	G	70066177	3	3	55	1	0	0	0	0	1	0	0	0	16962	1609	56	5	22	5	UGT2B11	4	70066177	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08	61841599	70066177	121088099	19	3985											
FNIP2	57600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	159750366	159750366	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr4:159750366C>G	ENST00000264433.6	+	3	445	c.370C>G	c.(370-372)Cca>Gca	p.P124A	FNIP2_ENST00000379346.3_Missense_Mutation_p.P147A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	124					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P124A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGAACAGCTTCCAAAGTACCA	0.498																																																1	Substitution - Missense(1)	kidney(1)											63	60	61					4																	159750366		1969	4170	6139	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.370C>G	4.37:g.159750366C>G	ENSP00000264433:p.Pro124Ala		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996588	0.74818	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346	T;T;T	0.39229	1.09;1.09;1.09	5.96	5.96	0.96718	.	.	.	.	.	T	0.57975	0.2090	M	0.70842	2.15	0.58432	D	0.99999	P;P	0.45044	0.849;0.754	P;P	0.50791	0.65;0.493	T	0.52487	-0.8569	8	.	.	.	.	20.4084	0.99013	0.0:1.0:0.0:0.0	.	124;147	Q9P278;D6RFH5	FNIP2_HUMAN;.	A	124;147;147	ENSP00000264433:P124A;ENSP00000421488:P147A;ENSP00000368651:P147A	.	P	+	1	0	FNIP2	159969816	1.000000	0.71417	0.997000	0.53966	0.714000	0.41099	3.713000	0.54882	2.833000	0.97629	0.650000	0.86243	CCA		0.498	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		G	159750366	C	G	159750366	3	3	55	1	0	0	0	0	1	0	0	0	5978	855	30	4	380	4	FNIP2	4	159750366	Missense_Mutation	SNP	C	TCGA-A3-3373-01A-02D-1421-08	89684189	159750366	31403910	20	3986											
TARS	6897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33467768	33467768	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr5:33467768G>T	ENST00000265112.3	+	19	2438	c.2127G>T	c.(2125-2127)caG>caT	p.Q709H	TARS_ENST00000455217.2_Missense_Mutation_p.Q742H|TARS_ENST00000414361.2_Missense_Mutation_p.Q588H|TARS_ENST00000541634.1_Missense_Mutation_p.Q605H|TARS_ENST00000502553.1_Missense_Mutation_p.Q709H	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	709					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.Q709H(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AGCGGCTACAGCAGCTCAAAG	0.438																																																1	Substitution - Missense(1)	kidney(1)											49	52	51					5																	33467768		2203	4300	6503	SO:0001583	missense	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2127G>T	5.37:g.33467768G>T	ENSP00000265112:p.Gln709His		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	g	13.78	2.338095	0.41398	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	5.2	4.32	0.51571	Anticodon-binding (3);	0.391259	0.29046	N	0.013308	T	0.81336	0.4801	L	0.45422	1.42	0.32836	D	0.504677	B;P;B;P	0.45715	0.002;0.865;0.346;0.783	B;P;B;P	0.50314	0.014;0.637;0.21;0.637	D	0.84875	0.0827	10	0.54805	T	0.06	-14.1445	8.9824	0.35972	0.0758:0.0:0.7794:0.1449	.	588;742;605;709	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	H	709;709;605;742;588	ENSP00000424387:Q709H;ENSP00000265112:Q709H;ENSP00000438469:Q605H;ENSP00000387710:Q742H;ENSP00000394291:Q588H	ENSP00000265112:Q709H	Q	+	3	2	TARS	33503525	0.519000	0.26242	1.000000	0.80357	0.945000	0.59286	0.874000	0.28065	2.418000	0.82041	0.557000	0.71058	CAG		0.438	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		T	33467768	G	T	33467768	3	4	55	1	0	0	0	0	1	0	0	0	15564	962	34	4	2201	4	TARS	5	33467768	Missense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08		33467768	147447492	21	3987											
SLC38A9	153129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54965131	54965131	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr5:54965131T>G	ENST00000396865.2	-	7	1042	c.451A>C	c.(451-453)Atg>Ctg	p.M151L	SLC38A9_ENST00000416547.2_Missense_Mutation_p.M27L|SLC38A9_ENST00000515629.1_Missense_Mutation_p.M88L|SLC38A9_ENST00000539768.1_Missense_Mutation_p.M151L|SLC38A9_ENST00000512595.1_Missense_Mutation_p.M124L|SLC38A9_ENST00000318672.3_Missense_Mutation_p.M151L	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	151					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.M151L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATGACACACATTCCAGTAGTA	0.323																																																1	Substitution - Missense(1)	kidney(1)											155	159	158					5																	54965131		2203	4300	6503	SO:0001583	missense	153129				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"Solute carriers"	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.451A>C	5.37:g.54965131T>G	ENSP00000380074:p.Met151Leu		B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371494	0.24771	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000512595;ENST00000511233;ENST00000512208;ENST00000503817	T;T;T;T;T;T;T;T;T	0.01629	4.72;4.72;4.72;4.72;4.72;4.72;4.72;4.72;4.72	5.29	4.12	0.48240	.	0.271171	0.47852	D	0.000210	T	0.00936	0.0031	N	0.03608	-0.345	0.36170	D	0.848723	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.51545	-0.8692	10	0.13853	T	0.58	-12.1212	7.8341	0.29360	0.0:0.2306:0.0:0.7694	.	124;151	B3KXV1;Q8NBW4	.;S38A9_HUMAN	L	151;151;151;88;27;124;151;88;88	ENSP00000380074:M151L;ENSP00000316596:M151L;ENSP00000437771:M151L;ENSP00000420934:M88L;ENSP00000397429:M27L;ENSP00000427335:M124L;ENSP00000423219:M151L;ENSP00000426413:M88L;ENSP00000424918:M88L	ENSP00000316596:M151L	M	-	1	0	SLC38A9	55000888	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.383000	0.34385	0.949000	0.37715	0.528000	0.53228	ATG		0.323	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		G	54965131	T	G	54965131	3	3	55	1	0	0	0	0	1	0	0	0	14617	1493	52	5	1274	5	SLC38A9	5	54965131	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08	21497363	54965131	125950129	22	3988											
ELOVL2	54898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	11005769	11005769	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr6:11005769T>G	ENST00000354666.3	-	3	174	c.91A>C	c.(91-93)Atg>Ctg	p.M31L		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	31				M -> T (in Ref. 1; BAA91096). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)	p.M31L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GAGTCCAACATGAACCACCCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											112	87	96					6																	11005769		2203	4300	6503	SO:0001583	missense	54898			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.91A>C	6.37:g.11005769T>G	ENSP00000346693:p.Met31Leu		Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	T	5.021	0.189517	0.09547	.	.	ENSG00000197977	ENST00000354666	T	0.18502	2.21	5.95	-1.38	0.09027	.	0.315459	0.33382	N	0.004963	T	0.00695	0.0023	N	0.00106	-2.12	0.29263	N	0.87118	B	0.02656	0.0	B	0.04013	0.001	T	0.39333	-0.9619	10	0.02654	T	1	.	13.2258	0.59914	0.0924:0.0:0.6028:0.3048	.	31	Q9NXB9	ELOV2_HUMAN	L	31	ENSP00000346693:M31L	ENSP00000346693:M31L	M	-	1	0	ELOVL2	11113755	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	0.556000	0.23438	-0.434000	0.07275	0.533000	0.62120	ATG		0.413	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			G	11005769	T	G	11005769	3	3	55	1	0	0	0	0	1	0	0	0	5076	1464	51	5	823	5	ELOVL2	6	11005769	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08		11005769	160109298	23	3989											
C6orf167	253714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	97702455	97702455	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr6:97702455C>A	ENST00000275053.4	-	10	1362	c.1097G>T	c.(1096-1098)cGc>cTc	p.R366L	MMS22L_ENST00000369251.2_Missense_Mutation_p.R366L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	366					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.R366L(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TACTCCATGGCGATCAAACTT	0.328																																																1	Substitution - Missense(1)	kidney(1)											98	97	97					6																	97702455		2203	4300	6503	SO:0001583	missense	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1097G>T	6.37:g.97702455C>A	ENSP00000275053:p.Arg366Leu		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452293	0.84209	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018;ENST00000482634	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.74258	2.255	0.58432	D	0.999996	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.965	T	0.59273	-0.7485	10	0.66056	D	0.02	-6.3405	16.6752	0.85277	0.0:1.0:0.0:0.0	.	366;366	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	L	366;366;254;58	ENSP00000275053:R366L;ENSP00000358254:R366L;ENSP00000427288:R254L;ENSP00000421225:R58L	ENSP00000275053:R366L	R	-	2	0	MMS22L	97809176	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.404000	0.66344	2.364000	0.80123	0.655000	0.94253	CGC		0.328	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		A	97702455	C	A	97702455	3	1	55	1	0	0	0	0	1	0	0	0	2344	768	27	4	2698	4	C6orf167	6	97702455	Missense_Mutation	SNP	C	TCGA-A3-3373-01A-02D-1421-08	86696686	97702455	73412612	24	3990											
CTGF	1490	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132270523	132270523	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr6:132270523C>T	ENST00000367976.3	-	5	1131	c.931G>A	c.(931-933)Gag>Aag	p.E311K	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	311	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)	p.E311K(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TTCATGACCTCGCCGTCAGGG	0.522																																					Esophageal Squamous(127;510 1660 12817 24400 38449)											1	Substitution - Missense(1)	kidney(1)											146	135	139					6																	132270523		2203	4300	6503	SO:0001583	missense	1490			X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.931G>A	6.37:g.132270523C>T	ENSP00000356954:p.Glu311Lys		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661040	0.47572	.	.	ENSG00000118523	ENST00000367976	T	0.16597	2.33	5.55	5.55	0.83447	Cystine knot (1);Cystine knot, C-terminal (3);	0.055100	0.64402	D	0.000001	T	0.08447	0.0210	L	0.31476	0.935	0.52099	D	0.999946	B	0.28880	0.226	B	0.24269	0.052	T	0.08680	-1.0710	10	0.44086	T	0.13	.	19.8696	0.96845	0.0:1.0:0.0:0.0	.	311	P29279	CTGF_HUMAN	K	311	ENSP00000356954:E311K	ENSP00000356954:E311K	E	-	1	0	CTGF	132312216	1.000000	0.71417	0.958000	0.39756	0.987000	0.75469	3.957000	0.56730	2.773000	0.95371	0.585000	0.79938	GAG		0.522	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		T	132270523	C	T	132270523	3	4	55	1	0	0	0	0	1	0	0	0	4010	893	31	1	122	1	CTGF	6	132270523	Missense_Mutation	SNP	C	TCGA-A3-3373-01A-02D-1421-08	34568068	132270523	38844544	25	3991											
UTRN	7402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	144806603	144806603	+	Missense_Mutation	SNP	A	A	G	rs375665025		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr6:144806603A>G	ENST00000367545.3	+	27	3770	c.3770A>G	c.(3769-3771)aAg>aGg	p.K1257R		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1257					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.K1257R(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGCGGATGAAGAGCACAGAG	0.478																																																1	Substitution - Missense(1)	kidney(1)						A	ARG/LYS	0,4406		0,0,2203	211	202	205		3770	-0.7	0.1	6		205	1,8599	1.2+/-3.3	0,1,4299	no	missense	UTRN	NM_007124.2	26	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	1257/3434	144806603	1,13005	2203	4300	6503	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3770A>G	6.37:g.144806603A>G	ENSP00000356515:p.Lys1257Arg		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404916	0.42613	0.0	1.16E-4	ENSG00000152818	ENST00000367545	T	0.17213	2.29	5.12	-0.7	0.11273	.	0.580733	0.15254	N	0.272193	T	0.04770	0.0129	L	0.42245	1.32	0.49798	D	0.999824	B	0.02656	0.0	B	0.06405	0.002	T	0.33240	-0.9876	10	0.21014	T	0.42	.	9.7751	0.40614	0.7195:0.0:0.2805:0.0	.	1257	P46939	UTRO_HUMAN	R	1257	ENSP00000356515:K1257R	ENSP00000356515:K1257R	K	+	2	0	UTRN	144848296	1.000000	0.71417	0.060000	0.19600	0.956000	0.61745	3.709000	0.54853	-0.279000	0.09167	0.533000	0.62120	AAG		0.478	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			G	144806603	A	G	144806603	3	3	55	1	0	0	0	0	1	0	0	0	17108	72	3	3	3876	3	UTRN	6	144806603	Missense_Mutation	SNP	A	TCGA-A3-3373-01A-02D-1421-08	12536080	144806603	26308464	26	3992											
POM121C	100101267	broad.mit.edu;hgsc.bcm.edu	37	7	75066894	75066894	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr7:75066894A>G	ENST00000257665.5	-	5	1104	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Missense_Mutation_p.S127P			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	369	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)		p.S127P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTCATGGAAGAGCTTCGGGAT	0.498																																																1	Substitution - Missense(1)	kidney(1)											129	137	134					7																	75066894		2203	4300	6503	SO:0001583	missense	100101267				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1105T>C	7.37:g.75066894A>G	ENSP00000257665:p.Ser369Pro		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37		.	.	.	.	.	.	.	.	.	.	A	14.09	2.431473	0.43122	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.20463	2.07;2.07	4.17	4.17	0.49024	.	0.000000	0.40728	N	0.001026	T	0.31295	0.0792	M	0.84082	2.675	0.47065	D	0.999304	P	0.51351	0.944	P	0.44394	0.448	T	0.33033	-0.9884	10	0.72032	D	0.01	.	11.2716	0.49142	1.0:0.0:0.0:0.0	.	369	A8CG34	P121C_HUMAN	P	369;127	ENSP00000257665:S369P;ENSP00000414208:S127P	ENSP00000257665:S369P	S	-	1	0	POM121C	74904830	1.000000	0.71417	0.978000	0.43139	0.014000	0.08584	5.417000	0.66423	1.668000	0.50843	0.413000	0.27773	TCT		0.498	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		G	75066894	A	G	75066894	3	3	55	1	0	0	0	0	1	0	0	0	12242	304	11	3	2620	3	POM121C	7	75066894	Missense_Mutation	SNP	A	TCGA-A3-3373-01A-02D-1421-08		75066894	84071769	27	3993											
MFHAS1	9258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	8749927	8749927	+	Missense_Mutation	SNP	G	G	C	rs201309863		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr8:8749927G>C	ENST00000276282.6	-	1	1228	c.642C>G	c.(640-642)aaC>aaG	p.N214K		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	214								p.N214K(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCCGCAGCCGGTTGCTGGACA	0.692																																					Melanoma(103;1201 2045 17515 28966)											1	Substitution - Missense(1)	kidney(1)											18	21	20					8																	8749927		2202	4298	6500	SO:0001583	missense	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.642C>G	8.37:g.8749927G>C	ENSP00000276282:p.Asn214Lys		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703983	0.30232	.	.	ENSG00000147324	ENST00000276282	T	0.72835	-0.69	5.29	2.53	0.30540	.	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	H	0.99415	4.555	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	D	0.86923	0.2068	10	0.72032	D	0.01	.	7.449	0.27227	0.145:0.0:0.7197:0.1353	.	214	Q9Y4C4	MFHA1_HUMAN	K	214	ENSP00000276282:N214K	ENSP00000276282:N214K	N	-	3	2	MFHAS1	8787337	1.000000	0.71417	0.999000	0.59377	0.048000	0.14542	3.272000	0.51616	0.230000	0.21059	-0.253000	0.11424	AAC		0.692	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		C	8749927	G	C	8749927	3	2	55	1	0	0	0	0	1	0	0	0	9523	1252	44	4	2528	4	MFHAS1	8	8749927	Missense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08		8749927	137614095	28	3994											
TRIM32	22954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	119460981	119460981	+	Silent	SNP	T	T	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr9:119460981T>C	ENST00000450136.1	+	2	1121	c.960T>C	c.(958-960)gtT>gtC	p.V320V	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.V320V|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	320					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V320V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTACCTCTGTTACTTTTAGAG	0.572																																					Esophageal Squamous(92;212 1916 19711 26951)											1	Substitution - coding silent(1)	kidney(1)											44	45	45					9																	119460981		2203	4300	6503	SO:0001819	synonymous_variant	22954			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.960T>C	9.37:g.119460981T>C			Q9NQP8	Silent	SNP	ENST00000450136.1	37	CCDS6817.1																																																																																				0.572	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		C	119460981	T	C	119460981	2	2	55	1	0	0	0	0	0	0	0	1	16511	1741	61	3		3	TRIM32	9	119460981	Silent	SNP	T	TCGA-A3-3373-01A-02D-1421-08		119460981	21752450	29	3995											
TLR4	7099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	120476405	120476405	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr9:120476405T>A	ENST00000355622.6	+	3	2100	c.1999T>A	c.(1999-2001)Tat>Aat	p.Y667N	TLR4_ENST00000394487.4_Missense_Mutation_p.Y627N|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	667					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y667N(1)|p.Y667H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTGCATAAAGTATGGTAGAGG	0.423																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											130	119	122					9																	120476405		2203	4300	6503	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1999T>A	9.37:g.120476405T>A	ENSP00000363089:p.Tyr667Asn		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	T	9.573	1.121441	0.20877	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.39997	1.36;1.05	6.03	3.44	0.39384	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.420467	0.23127	N	0.051629	T	0.49474	0.1559	M	0.64404	1.975	0.09310	N	1	D	0.58268	0.982	P	0.56088	0.791	T	0.32877	-0.9890	10	0.36615	T	0.2	.	7.7045	0.28642	0.2008:0.067:0.0:0.7322	.	667	O00206	TLR4_HUMAN	N	627;667	ENSP00000377997:Y627N;ENSP00000363089:Y667N	ENSP00000363089:Y667N	Y	+	1	0	TLR4	119516226	0.009000	0.17119	0.655000	0.29622	0.148000	0.21650	1.021000	0.30040	1.095000	0.41419	-0.290000	0.09829	TAT		0.423	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		A	120476405	T	A	120476405	3	1	55	1	0	0	0	0	1	0	0	0	15958	1638	57	5	2009	5	TLR4	9	120476405	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08	1015424	120476405	20737026	30	3996											
VAV2	7410	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136642527	136642527	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr9:136642527C>T	ENST00000371850.3	-	23	1980	c.1949G>A	c.(1948-1950)tGc>tAc	p.C650Y	VAV2_ENST00000371851.1_Missense_Mutation_p.C640Y|VAV2_ENST00000406606.3_Missense_Mutation_p.C640Y	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	650	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C650Y(1)|p.C640Y(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ATCCACAGGGCAGGGCTTCAC	0.582																																																2	Substitution - Missense(2)	kidney(2)											141	135	137					9																	136642527		2203	4300	6503	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1949G>A	9.37:g.136642527C>T	ENSP00000360916:p.Cys650Tyr		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	4.070	0.010735	0.07912	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.08458	3.09;3.09;3.09	4.43	4.43	0.53597	Src homology-3 domain (3);Variant SH3 (1);	0.049809	0.85682	D	0.000000	T	0.08044	0.0201	L	0.41573	1.285	0.46437	D	0.999045	B;B;B	0.23058	0.079;0.034;0.001	B;B;B	0.29176	0.099;0.022;0.017	T	0.05338	-1.0891	10	0.02654	T	1	.	15.4228	0.75025	0.0:1.0:0.0:0.0	.	640;650;640	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	Y	650;640;640;640	ENSP00000360916:C650Y;ENSP00000360917:C640Y;ENSP00000385362:C640Y	ENSP00000317258:C640Y	C	-	2	0	VAV2	135632348	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.257000	0.58816	2.288000	0.76882	0.655000	0.94253	TGC		0.582	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			T	136642527	C	T	136642527	3	4	55	1	0	0	0	0	1	0	0	0	17137	710	25	2	719	2	VAV2	9	136642527	Missense_Mutation	SNP	C	TCGA-A3-3373-01A-02D-1421-08	16166122	136642527	4570904	31	3997											
TNKS2	80351	hgsc.bcm.edu;ucsc.edu	37	10	93622703	93622703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr10:93622703delG	ENST00000371627.4	+	27	3827	c.3448delG	c.(3448-3450)gagfs	p.E1150fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1150	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GGCTTATCCTGAGTATTTAAT	0.323																																																0													77	76	76					10																	93622703		2203	4299	6502	SO:0001589	frameshift_variant	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3448delG	10.37:g.93622703delG	ENSP00000360689:p.Glu1150fs		B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Del	DEL	ENST00000371627.4	37	CCDS7417.1																																																																																				0.323	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		-	93622703	G	-	93622703	7	5	55	1	0	1	0	1	0	0	0	0	16326	1291	45	0	3554	0	TNKS2	10	93622703	Frame_Shift_Del	DEL	G	TCGA-A3-3373-01A-02D-1421-08		93622703	41912044	32	3998											
AFAP1L2	84632	hgsc.bcm.edu;ucsc.edu	37	10	116075322	116075322	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr10:116075322delA	ENST00000304129.4	-	6	638	c.609delT	c.(607-609)cttfs	p.L204fs	AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.L257fs|AFAP1L2_ENST00000369271.3_Frame_Shift_Del_p.L204fs			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	204	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GACTGACCAGAAGCCTGTTGT	0.617																																																0													103	68	79					10																	116075322		2203	4300	6503	SO:0001589	frameshift_variant	84632			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.609delT	10.37:g.116075322delA	ENSP00000303042:p.Leu204fs		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Frame_Shift_Del	DEL	ENST00000304129.4	37	CCDS31286.1																																																																																				0.617	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		-	116075322	A	-	116075322	7	5	55	1	0	1	0	1	0	0	0	0	355	233	9	0	1903	0	AFAP1L2	10	116075322	Frame_Shift_Del	DEL	A	TCGA-A3-3373-01A-02D-1421-08	22452619	116075322	19459425	33	3999											
EIF3A	8661	broad.mit.edu;hgsc.bcm.edu	37	10	120801706	120801706	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr10:120801706G>A	ENST00000369144.3	-	19	3453	c.3326C>T	c.(3325-3327)cCc>cTc	p.P1109L	EIF3A_ENST00000541549.1_Missense_Mutation_p.P1075L	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.P1109L(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCCTCGCCTGGGACCCCGGTC	0.627																																																1	Substitution - Missense(1)	kidney(1)											132	135	134					10																	120801706		2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3326C>T	10.37:g.120801706G>A	ENSP00000358140:p.Pro1109Leu		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389537	0.25118	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26373	1.74;1.79	5.65	4.75	0.60458	.	0.000000	0.39146	N	0.001444	T	0.27384	0.0672	M	0.76574	2.34	0.22171	N	0.999316	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.0	T	0.28808	-1.0032	10	0.12430	T	0.62	-14.1458	11.5507	0.50719	0.0683:0.125:0.8066:0.0	.	1075;1109	F5H335;Q14152	.;EIF3A_HUMAN	L	1109;1075	ENSP00000358140:P1109L;ENSP00000438178:P1075L	ENSP00000358140:P1109L	P	-	2	0	EIF3A	120791696	1.000000	0.71417	0.995000	0.50966	0.705000	0.40729	6.725000	0.74752	1.413000	0.46997	-0.251000	0.11542	CCC		0.627	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		A	120801706	G	A	120801706	3	1	55	1	0	0	0	0	1	0	0	0	5014	1232	43	2	838	2	EIF3A	10	120801706	Missense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08	4726384	120801706	14733041	34	4000	42	2									
EIF3A	8661	broad.mit.edu;hgsc.bcm.edu	37	10	120801712	120801712	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr10:120801712C>T	ENST00000369144.3	-	19	3447	c.3320G>A	c.(3319-3321)cGg>cAg	p.R1107Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1073Q	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R1107Q(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCTGGGACCCCGGTCATCATC	0.627																																																1	Substitution - Missense(1)	kidney(1)											124	129	127					10																	120801712		2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3320G>A	10.37:g.120801712C>T	ENSP00000358140:p.Arg1107Gln		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620865	0.66787	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.25579	1.8;1.79	5.54	5.54	0.83059	.	0.000000	0.36303	N	0.002676	T	0.55194	0.1905	M	0.84585	2.705	0.45914	D	0.998758	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.978	T	0.53136	-0.8481	10	0.14252	T	0.57	-6.2226	19.4692	0.94956	0.0:1.0:0.0:0.0	.	1073;1107	F5H335;Q14152	.;EIF3A_HUMAN	Q	1107;1073	ENSP00000358140:R1107Q;ENSP00000438178:R1073Q	ENSP00000358140:R1107Q	R	-	2	0	EIF3A	120791702	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.648000	0.61425	2.621000	0.88768	0.563000	0.77884	CGG		0.627	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		T	120801712	C	T	120801712	3	4	55	1	0	0	0	0	1	0	0	0	5014	652	23	1	844	1	EIF3A	10	120801712	Missense_Mutation	SNP	C	TCGA-A3-3373-01A-02D-1421-08	6	120801712	14733035	35	4001	42	2									
SYT7	9066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61323583	61323583	+	Missense_Mutation	SNP	C	C	G	rs368577686		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr11:61323583C>G	ENST00000263846.4	-	2	455	c.128G>C	c.(127-129)cGc>cCc	p.R43P	SYT7_ENST00000539008.1_Missense_Mutation_p.R43P|SYT7_ENST00000542670.1_Missense_Mutation_p.R43P|SYT7_ENST00000542836.1_Missense_Mutation_p.R43P|SYT7_ENST00000535826.1_Missense_Mutation_p.R43P|SYT7_ENST00000540677.1_Missense_Mutation_p.R43P	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	43					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.R43P(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACCAGTTTGCGCTGACACCA	0.642																																																1	Substitution - Missense(1)	kidney(1)											48	41	43					11																	61323583		2202	4299	6501	SO:0001583	missense	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.128G>C	11.37:g.61323583C>G	ENSP00000263846:p.Arg43Pro		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930414	0.92389	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.75938	-0.2;-0.98;-0.39;-0.5;-0.66;-0.63;0.74	4.98	4.98	0.66077	.	0.140011	0.46145	D	0.000303	T	0.79545	0.4464	L	0.27053	0.805	0.49389	D	0.999787	D;D	0.71674	0.998;0.996	D;D	0.75484	0.986;0.969	T	0.81282	-0.1003	10	0.52906	T	0.07	.	18.2399	0.89963	0.0:1.0:0.0:0.0	.	43;43	F5GZU9;O43581	.;SYT7_HUMAN	P	43	ENSP00000263846:R43P;ENSP00000444201:R43P;ENSP00000439694:R43P;ENSP00000444568:R43P;ENSP00000444019:R43P;ENSP00000437720:R43P;ENSP00000443576:R43P	ENSP00000263846:R43P	R	-	2	0	SYT7	61080159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.769000	0.68865	2.460000	0.83146	0.591000	0.81541	CGC		0.642	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		G	61323583	C	G	61323583	3	3	55	1	0	0	0	0	1	0	0	0	15484	768	27	4	1115	4	SYT7	11	61323583	Missense_Mutation	SNP	C	TCGA-A3-3373-01A-02D-1421-08		61323583	73682933	36	4002											
PICALM	8301	hgsc.bcm.edu;ucsc.edu	37	11	85742542	85742550	+	In_Frame_Del	DEL	GTAATGAGA	GTAATGAGA	-			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	GTAATGAGA	GTAATGAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr11:85742542_85742550delGTAATGAGA	ENST00000393346.3	-	2	382_390	c.234_242delTCTCATTAC	c.(232-243)tctctcattaca>tca	p.LIT79del	PICALM_ENST00000528398.1_In_Frame_Del_p.LIT28del|PICALM_ENST00000532317.1_In_Frame_Del_p.LIT79del|PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000356360.5_In_Frame_Del_p.LIT79del|PICALM_ENST00000526033.1_In_Frame_Del_p.LIT79del			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	79	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				ATGATGAGTTGTAATGAGAGATTTGAAGA	0.359			T	"MLLT10, MLL"	"TALL, AML, "																																		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0																																										SO:0001651	inframe_deletion	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.234_242delTCTCATTAC	11.37:g.85742542_85742550delGTAATGAGA	ENSP00000377015:p.Leu79_Thr81del		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	In_Frame_Del	DEL	ENST00000393346.3	37	CCDS8272.1																																																																																				0.359	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		-	85742550	GTAATGAGA	-	85742542	7	5	55	1	0	1	0	1	0	0	0	0	11882	1377	48	0	1820	0	PICALM	11	85742542	In_Frame_Del	DEL	GTAATGAGA	TCGA-A3-3373-01A-02D-1421-08	24418959	85742542	49263974	37	4003											
ATF7IP	55729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14578241	14578241	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr12:14578241T>G	ENST00000540793.1	+	1	1547	c.1392T>G	c.(1390-1392)aaT>aaG	p.N464K	ATF7IP_ENST00000536444.1_Missense_Mutation_p.N464K|ATF7IP_ENST00000544627.1_Missense_Mutation_p.N472K|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.N464K|ATF7IP_ENST00000543189.1_Missense_Mutation_p.N464K			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	464	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.N464K(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ATGAGACAAATCCAGATTTGG	0.383																																																1	Substitution - Missense(1)	kidney(1)											58	60	59					12																	14578241		2203	4300	6503	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1392T>G	12.37:g.14578241T>G	ENSP00000444589:p.Asn464Lys		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590514	0.46214	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.23147	2.26;2.26;2.26;2.26;1.92;2.26	5.54	1.57	0.23409	.	0.514144	0.19309	N	0.117446	T	0.17492	0.0420	L	0.40543	1.245	0.20196	N	0.999923	B;B;B;B;B;B;B	0.34015	0.161;0.161;0.023;0.435;0.435;0.023;0.023	B;B;B;B;B;B;B	0.31101	0.079;0.049;0.049;0.124;0.124;0.049;0.049	T	0.12293	-1.0553	10	0.51188	T	0.08	-14.5847	6.9027	0.24291	0.0:0.4102:0.0:0.5898	.	472;464;472;464;464;464;75	B4E2A2;B4DRL6;F5GX74;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;.;MCAF1_HUMAN;.;.	K	464;464;464;472;464;464	ENSP00000261168:N464K;ENSP00000443179:N464K;ENSP00000445955:N464K;ENSP00000440440:N472K;ENSP00000379575:N464K;ENSP00000444589:N464K	ENSP00000261168:N464K	N	+	3	2	ATF7IP	14469508	0.948000	0.32251	0.987000	0.45799	0.974000	0.67602	1.147000	0.31602	0.481000	0.27557	0.482000	0.46254	AAT		0.383	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		G	14578241	T	G	14578241	3	3	55	1	0	0	0	0	1	0	0	0	1087	1432	50	5	1394	5	ATF7IP	12	14578241	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08		14578241	119273654	38	4004											
SFRS2IP	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46328263	46328263	+	Silent	SNP	T	T	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr12:46328263T>C	ENST00000369367.3	-	7	722	c.489A>G	c.(487-489)ggA>ggG	p.G163G	SCAF11_ENST00000419565.2_Silent_p.G163G|SCAF11_ENST00000549162.1_5'UTR	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	163					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G163G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTTTCTTTCCTCCTGTTTCAC	0.299																																																1	Substitution - coding silent(1)	kidney(1)											148	136	140					12																	46328263		1812	4073	5885	SO:0001819	synonymous_variant	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.489A>G	12.37:g.46328263T>C			A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	CCDS8748.2																																																																																				0.299	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		C	46328263	T	C	46328263	2	2	55	1	0	0	0	0	0	0	0	1	14183	1538	54	3		3	SFRS2IP	12	46328263	Silent	SNP	T	TCGA-A3-3373-01A-02D-1421-08	31750022	46328263	87523632	39	4005											
SRGAP1	57522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	64536075	64536075	+	Splice_Site	SNP	G	G	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr12:64536075G>C	ENST00000355086.3	+	22	3405	c.2881G>C	c.(2881-2883)Gat>Cat	p.D961H	SRGAP1_ENST00000357825.3_Splice_Site_p.D938H|SRGAP1_ENST00000543397.1_Splice_Site_p.D898H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	961					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.D961H(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCTTCAATAGGATATTGAAGA	0.423																																																1	Substitution - Missense(1)	kidney(1)											49	54	52					12																	64536075		2203	4300	6503	SO:0001630	splice_region_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2881-1G>C	12.37:g.64536075G>C			Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604290	0.66445	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.32988	2.41;2.0;1.43	5.85	5.85	0.93711	.	0.000000	0.35805	U	0.002979	T	0.56877	0.2015	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.50250	-0.8850	9	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	961;898	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	961;938;898	ENSP00000347198:D961H;ENSP00000350480:D938H;ENSP00000437948:D898H	.	D	+	1	0	SRGAP1	62822342	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	9.787000	0.99055	2.767000	0.95098	0.563000	0.77884	GAT		0.423	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		Missense_Mutation	C	64536075	G	C	64536075	5	2	55	1	0	0	0	0	0	0	1	0	15150	1188	41	4	2967	4	SRGAP1	12	64536075	Splice_Site	SNP	G	TCGA-A3-3373-01A-02D-1421-08	18207812	64536075	69315820	40	4006											
EEA1	8411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	93210026	93210026	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr12:93210026T>G	ENST00000322349.8	-	15	2143	c.1879A>C	c.(1879-1881)Aat>Cat	p.N627H		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	627	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.N627H(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AATTGACTATTTAATTCATTG	0.398																																																1	Substitution - Missense(1)	kidney(1)											142	131	135					12																	93210026		2202	4300	6502	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1879A>C	12.37:g.93210026T>G	ENSP00000317955:p.Asn627His		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832531	0.50845	.	.	ENSG00000102189	ENST00000322349	T	0.77489	-1.1	5.27	5.27	0.74061	.	0.450396	0.20217	N	0.096780	T	0.65943	0.2740	N	0.19112	0.55	0.29987	N	0.81724	B	0.33448	0.412	B	0.30855	0.121	T	0.69007	-0.5259	10	0.66056	D	0.02	.	15.1766	0.72916	0.0:0.0:0.0:1.0	.	627	Q15075	EEA1_HUMAN	H	627	ENSP00000317955:N627H	ENSP00000317955:N627H	N	-	1	0	EEA1	91734157	1.000000	0.71417	0.964000	0.40570	0.825000	0.46686	7.665000	0.83852	2.000000	0.58554	0.260000	0.18958	AAT		0.398	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		G	93210026	T	G	93210026	3	3	55	1	0	0	0	0	1	0	0	0	4923	1841	64	5	2416	5	EEA1	12	93210026	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08	28673951	93210026	40641869	41	4007											
SLC46A3	283537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	29287320	29287320	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr13:29287320G>A	ENST00000266943.6	-	3	926	c.557C>T	c.(556-558)tCa>tTa	p.S186L	SLC46A3_ENST00000380814.4_Missense_Mutation_p.S186L	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	186					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S186L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ATAGCCAGATGACAGTCCTGT	0.338																																																2	Substitution - Missense(2)	kidney(2)											57	55	55					13																	29287320		2203	4300	6503	SO:0001583	missense	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.557C>T	13.37:g.29287320G>A	ENSP00000266943:p.Ser186Leu		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	G	0.546	-0.851717	0.02651	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.43688	0.94;0.94	6.17	4.45	0.53987	Major facilitator superfamily domain, general substrate transporter (1);	0.239685	0.43579	N	0.000552	T	0.34629	0.0904	L	0.43757	1.38	0.30034	N	0.813233	B;P;P	0.40000	0.003;0.649;0.698	B;B;B	0.36845	0.011;0.15;0.234	T	0.13098	-1.0522	10	0.24483	T	0.36	-9.1356	14.4727	0.67526	0.1641:0.0:0.8359:0.0	.	111;186;186	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	L	186	ENSP00000266943:S186L;ENSP00000370192:S186L	ENSP00000266943:S186L	S	-	2	0	SLC46A3	28185320	1.000000	0.71417	0.303000	0.25071	0.487000	0.33371	3.543000	0.53633	0.506000	0.28125	-1.731000	0.00696	TCA		0.338	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		A	29287320	G	A	29287320	3	1	55	1	0	0	0	0	1	0	0	0	14652	1294	45	2	858	2	SLC46A3	13	29287320	Missense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08		29287320	85882558	42	4008											
C14orf126	112487	broad.mit.edu;hgsc.bcm.edu	37	14	31917639	31917639	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr14:31917639T>A	ENST00000310850.4	-	3	319	c.203A>T	c.(202-204)aAa>aTa	p.K68I	RP11-176H8.1_ENST00000547378.1_Intron|DTD2_ENST00000356180.4_Missense_Mutation_p.K68I|CTD-2213F21.2_ENST00000502430.2_RNA	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	68					D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)	p.K68I(1)									CTCACTTAATTTCACATTTAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											81	84	83					14																	31917639		2203	4300	6503	SO:0001583	missense	0			BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 126"	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.203A>T	14.37:g.31917639T>A	ENSP00000312224:p.Lys68Ile		D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423496	0.83559	.	.	ENSG00000129480	ENST00000310850;ENST00000356180	T;T	0.50277	0.75;0.75	5.96	5.96	0.96718	D-Tyr tRNAtyr deacylase-like domain (2);	0.102998	0.64402	N	0.000003	T	0.71195	0.3311	M	0.84219	2.685	0.53005	D	0.999969	D	0.67145	0.996	D	0.68765	0.96	T	0.75977	-0.3127	10	0.87932	D	0	-3.0326	16.4338	0.83864	0.0:0.0:0.0:1.0	.	68	Q96FN9	DTD2_HUMAN	I	68	ENSP00000312224:K68I;ENSP00000348503:K68I	ENSP00000312224:K68I	K	-	2	0	C14orf126	30987390	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.616000	0.67709	2.270000	0.75569	0.533000	0.62120	AAA		0.353	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664		A	31917639	T	A	31917639	3	1	55	1	0	0	0	0	1	0	0	0	1745	1841	64	5	307	5	C14orf126	14	31917639	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08		31917639	75431901	43	4009											
DAAM1	23002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59835514	59835514	+	Silent	SNP	A	A	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr14:59835514A>G	ENST00000395125.1	+	25	3197	c.3174A>G	c.(3172-3174)aaA>aaG	p.K1058K	DAAM1_ENST00000360909.3_Silent_p.K1048K|DAAM1_ENST00000351081.1_Silent_p.K1058K|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1058	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.K1058K(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGAATCGCAAACGTATTACCA	0.373																																																1	Substitution - coding silent(1)	kidney(1)											112	106	108					14																	59835514		2203	4300	6503	SO:0001819	synonymous_variant	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3174A>G	14.37:g.59835514A>G			Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	CCDS9737.1																																																																																				0.373	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		G	59835514	A	G	59835514	2	3	55	1	0	0	0	0	0	0	0	1	4217	40	2	3		3	DAAM1	14	59835514	Silent	SNP	A	TCGA-A3-3373-01A-02D-1421-08	27917875	59835514	47514026	44	4010											
DYNC1H1	1778	broad.mit.edu	37	14	102431128	102431132	+	Frame_Shift_Del	DEL	CTGCG	CTGCG	-			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	CTGCG	CTGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr14:102431128_102431132delCTGCG	ENST00000360184.4	+	1	264_268	c.100_104delCTGCG	c.(100-105)ctgcgcfs	p.LR34fs		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	34					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAGAAGCACCTGCGCAAGCTGGTG	0.722																																																0																																										SO:0001589	frameshift_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.100_104delCTGCG	14.37:g.102431128_102431132delCTGCG	ENSP00000348965:p.Leu34fs		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Frame_Shift_Del	DEL	ENST00000360184.4	37	CCDS9966.1																																																																																				0.722	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		-	102431132	CTGCG	-	102431128	7	5	55	1	0	1	0	1	0	0	0	0	4843	680	24	0	102	0	DYNC1H1	14	102431128	Frame_Shift_Del	DEL	CTGCG	TCGA-A3-3373-01A-02D-1421-08	42595614	102431128	4918412	45	4011											
KIF26A	26153	broad.mit.edu	37	14	104643367	104643367	+	Silent	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr14:104643367G>A	ENST00000423312.2	+	12	4242	c.4242G>A	c.(4240-4242)agG>agA	p.R1414R	KIF26A_ENST00000315264.7_Silent_p.R1275R	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1414					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.R1414R(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGTCCCCAGGGCCACGTCCA	0.692																																																1	Substitution - coding silent(1)	kidney(1)											7	11	10					14																	104643367		1988	4025	6013	SO:0001819	synonymous_variant	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4242G>A	14.37:g.104643367G>A			Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																				0.692	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			A	104643367	G	A	104643367	2	1	55	1	0	0	0	0	0	0	0	1	8296	1223	43	2		2	KIF26A	14	104643367	Silent	SNP	G	TCGA-A3-3373-01A-02D-1421-08	2212239	104643367	2706173	46	4012											
AQP9	366	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	58471498	58471498	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr15:58471498C>T	ENST00000219919.4	+	5	1037	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	AQP9_ENST00000536493.1_Missense_Mutation_p.P223S|AQP9_ENST00000558772.1_Missense_Mutation_p.P158S|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	223					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.P223S(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGACCTGAGTCCCAGACTTTT	0.552																																																1	Substitution - Missense(1)	kidney(1)											55	47	50					15																	58471498		2192	4292	6484	SO:0001583	missense	366			AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.667C>T	15.37:g.58471498C>T	ENSP00000219919:p.Pro223Ser		Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528053	0.96446	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.88975	-2.45;-2.45	6.17	6.17	0.99709	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97346	0.9960	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	223	O43315	AQP9_HUMAN	S	223	ENSP00000219919:P223S;ENSP00000441390:P223S	ENSP00000219919:P223S	P	+	1	0	AQP9	56258790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	CCC		0.552	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		T	58471498	C	T	58471498	3	4	55	1	0	0	0	0	1	0	0	0	833	855	30	2	685	2	AQP9	15	58471498	Missense_Mutation	SNP	C	TCGA-A3-3373-01A-02D-1421-08		58471498	44059894	47	4013											
MAPK8IP3	23162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1793404	1793404	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr16:1793404G>A	ENST00000250894.4	+	5	828	c.671G>A	c.(670-672)gGc>gAc	p.G224D	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G224D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	224					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.G225D(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CAGATCGGGGGCAAGCTCGTG	0.652																																																1	Substitution - Missense(1)	kidney(1)											45	51	49					16																	1793404		2070	4184	6254	SO:0001583	missense	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.671G>A	16.37:g.1793404G>A	ENSP00000250894:p.Gly224Asp		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306836	0.40795	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.30981	1.51;1.51	5.16	5.16	0.70880	.	0.120522	0.53938	D	0.000042	T	0.46288	0.1385	L	0.55481	1.735	0.45962	D	0.99878	B;P;D;P	0.57257	0.275;0.903;0.979;0.95	B;P;P;P	0.57720	0.283;0.488;0.826;0.648	T	0.44967	-0.9293	10	0.87932	D	0	-43.1551	15.0044	0.71501	0.0:0.1429:0.8571:0.0	.	225;224;224;224	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	D	224	ENSP00000250894:G224D;ENSP00000348290:G224D	ENSP00000250894:G224D	G	+	2	0	MAPK8IP3	1733405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.500000	0.60387	2.408000	0.81797	0.643000	0.83706	GGC		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		A	1793404	G	A	1793404	3	1	55	1	0	0	0	0	1	0	0	0	9288	1203	42	2	689	2	MAPK8IP3	16	1793404	Missense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08		1793404	88561349	48	4014											
TUFM	25970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28857318	28857318	+	5'Flank	SNP	G	G	A			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr16:28857318G>A	ENST00000322610.8	+	0	0				TUFM_ENST00000313511.3_Silent_p.Y54Y|MIR4721_ENST00000577590.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.Y54Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGTCGCGCACGTAAGTCTTCT	0.632																																																1	Substitution - coding silent(1)	kidney(1)											71	61	64					16																	28857318		2197	4300	6497	SO:0001631	upstream_gene_variant	7284			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28857318G>A	Exception_encountered		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	CCDS53996.1																																																																																				0.632	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		A	28857318	G	A	28857318	1	1	55	0	1	0	0	0	0	0	0	0	16776	1140	40	1		1	TUFM	16	28857318	5'Flank	SNP	G	TCGA-A3-3373-01A-02D-1421-08	27063914	28857318	61497435	49	4015											
EIF5A	1984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7214802	7214802	+	Splice_Site	SNP	T	T	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr17:7214802T>C	ENST00000336458.8	+	4	803		c.e4+2		EIF5A_ENST00000571955.1_Splice_Site|EIF5A_ENST00000576930.1_Splice_Site|EIF5A_ENST00000573542.1_Splice_Site|EIF5A_ENST00000572815.1_Missense_Mutation_p.V135A|EIF5A_ENST00000336452.7_Splice_Site|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000419711.2_Splice_Site|EIF5A_ENST00000416016.2_Splice_Site	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A						apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)	p.?(2)		endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						GAGATCCTGGTATGGTGCCTC	0.547																																																2	Unknown(2)	kidney(2)											266	232	244					17																	7214802		2203	4300	6503	SO:0001630	splice_region_variant	1984				CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.402+2T>C	17.37:g.7214802T>C			A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Splice_Site	SNP	ENST00000336458.8	37	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109524	0.37242	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	.	.	.	4.18	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0887	0.42434	0.0:0.0:0.1695:0.8305	.	.	.	.	.	-1	.	.	.	+	.	.	EIF5A	7155526	1.000000	0.71417	0.954000	0.39281	0.538000	0.34931	7.282000	0.78630	0.736000	0.32559	-0.313000	0.08912	.		0.547	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970	Intron	C	7214802	T	C	7214802	5	2	55	1	0	0	0	0	0	0	1	0	5043	1652	57	3	508	3	EIF5A	17	7214802	Splice_Site	SNP	T	TCGA-A3-3373-01A-02D-1421-08		7214802	73980408	50	4016											
CHAF1A	10036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4408962	4408962	+	Missense_Mutation	SNP	G	G	T	rs61729782		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr19:4408962G>T	ENST00000301280.5	+	3	267	c.166G>T	c.(166-168)Gat>Tat	p.D56Y		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	56	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.D56Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGTCAGACGATCAGGGTAC	0.473								Chromatin Structure																																								1	Substitution - Missense(1)	kidney(1)											134	134	134					19																	4408962		2203	4300	6503	SO:0001583	missense	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.166G>T	19.37:g.4408962G>T	ENSP00000301280:p.Asp56Tyr		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907860	0.33721	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.52295	0.67	5.37	-1.97	0.07503	.	.	.	.	.	T	0.43077	0.1231	L	0.47716	1.5	0.09310	N	1	P	0.51653	0.947	P	0.49477	0.612	T	0.38520	-0.9657	9	0.87932	D	0	-14.1851	5.0473	0.14490	0.075:0.2128:0.4995:0.2128	.	56	Q13111	CAF1A_HUMAN	Y	56	ENSP00000301280:D56Y	ENSP00000301280:D56Y	D	+	1	0	CHAF1A	4359962	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.568000	0.23623	-0.090000	0.12462	-0.397000	0.06425	GAT		0.473	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		T	4408962	G	T	4408962	3	4	55	1	0	0	0	0	1	0	0	0	3313	1058	37	4	176	4	CHAF1A	19	4408962	Missense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08		4408962	54720021	51	4017											
PLIN4	729359	hgsc.bcm.edu	37	19	4511539	4511539	+	Missense_Mutation	SNP	C	C	G	rs111868968|rs66701788	byFrequency	TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr19:4511539C>G	ENST00000301286.3	-	3	2390	c.2391G>C	c.(2389-2391)aaG>aaC	p.K797N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	797	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.K797N(1)|p.K725N(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGACGGCCCCCTTGGCCACAT	0.612																																																2	Substitution - Missense(2)	kidney(2)											122	154	143					19																	4511539		2115	4232	6347	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2391G>C	19.37:g.4511539C>G	ENSP00000301286:p.Lys797Asn		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	c	14.87	2.663289	0.47572	.	.	ENSG00000167676	ENST00000301286	T	0.06449	3.3	4.58	-7.01	0.01594	.	0.189787	0.25222	U	0.032239	T	0.20941	0.0504	M	0.87038	2.855	0.20638	N	0.99988	D	0.56287	0.975	P	0.57468	0.821	T	0.30149	-0.9988	10	0.54805	T	0.06	-6.9791	19.9487	0.97192	0.0:0.7894:0.0:0.2106	.	797	Q96Q06	PLIN4_HUMAN	N	797	ENSP00000301286:K797N	ENSP00000301286:K797N	K	-	3	2	PLIN4	4462539	0.000000	0.05858	0.064000	0.19789	0.002000	0.02628	-1.994000	0.01474	-2.189000	0.00758	-0.598000	0.04106	AAG		0.612	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		G	4511539	C	G	4511539	3	3	55	1	0	0	0	0	1	0	0	0	12094	680	24	4	1698	4	PLIN4	19	4511539	Missense_Mutation	SNP	C	TCGA-A3-3373-01A-02D-1421-08	102577	4511539	54617444	52	4018											
JOSD2	126119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51010902	51010902	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr19:51010902G>T	ENST00000598418.1	-	3	454	c.201C>A	c.(199-201)aaC>aaA	p.N67K	JOSD2_ENST00000601423.1_Missense_Mutation_p.N67K|JOSD2_ENST00000391815.3_Missense_Mutation_p.N67K|JOSD2_ENST00000595669.1_Intron	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	67	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.N67K(1)		kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		TGACATCATAGTTGCCGGTGC	0.657																																																1	Substitution - Missense(1)	kidney(1)											87	93	91					19																	51010902		2203	4300	6503	SO:0001583	missense	126119			AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.201C>A	19.37:g.51010902G>T	ENSP00000468956:p.Asn67Lys		M0QX25	Missense_Mutation	SNP	ENST00000598418.1	37	CCDS12797.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859510	0.71834	.	.	ENSG00000161677	ENST00000293431;ENST00000391815	T	0.44881	0.91	3.42	3.42	0.39159	.	0.000000	0.85682	U	0.000000	T	0.66809	0.2827	M	0.92833	3.35	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.71328	-0.4626	10	0.87932	D	0	-18.6028	6.768	0.23579	0.1291:0.0:0.8709:0.0	.	67	Q8TAC2	JOS2_HUMAN	K	87;67	ENSP00000375691:N67K	ENSP00000293431:N87K	N	-	3	2	JOSD2	55702714	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.908000	0.56355	1.931000	0.55961	0.549000	0.68633	AAC		0.657	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	NM_138334		T	51010902	G	T	51010902	3	4	55	1	0	0	0	0	1	0	0	0	7961	1020	36	4	377	4	JOSD2	19	51010902	Missense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08	46499363	51010902	8118081	53	4019											
PRPF31	26121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54625914	54625914	+	Silent	SNP	A	A	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr19:54625914A>C	ENST00000321030.4	+	5	710	c.361A>C	c.(361-363)Aga>Cga	p.R121R	AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Silent_p.R121R|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Silent_p.R121R	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	121					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)	p.R121R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTACTCAAAGAGATTCCCTGA	0.542																																																1	Substitution - coding silent(1)	kidney(1)											235	208	217					19																	54625914		2203	4300	6503	SO:0001819	synonymous_variant	26121			AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.361A>C	19.37:g.54625914A>C			Q17RB4|Q8N7F9|Q9H271|Q9Y439	Silent	SNP	ENST00000321030.4	37	CCDS12879.1																																																																																				0.542	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			C	54625914	A	C	54625914	2	2	55	1	0	0	0	0	0	0	0	1	12571	296	11	5		5	PRPF31	19	54625914	Silent	SNP	A	TCGA-A3-3373-01A-02D-1421-08	3615012	54625914	4503069	54	4020											
SIRPD	128646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	1532510	1532510	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr20:1532510A>G	ENST00000381623.3	-	2	1437	c.248T>C	c.(247-249)tTt>tCt	p.F83S	SIRPD_ENST00000381621.1_Missense_Mutation_p.F83S			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	83	Ig-like V-type.					extracellular region (GO:0005576)		p.F83S(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TACTCTGGGAAAGTTACCTTG	0.463																																																1	Substitution - Missense(1)	kidney(1)											155	155	155					20																	1532510		2203	4300	6503	SO:0001583	missense	128646			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.248T>C	20.37:g.1532510A>G	ENSP00000371036:p.Phe83Ser		B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	.	17.95	3.513306	0.64522	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	T;T	0.62788	-0.0;-0.0	4.03	-0.01	0.13998	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.575507	0.13879	U	0.356447	T	0.47451	0.1446	L	0.60904	1.88	0.09310	N	1	P	0.39352	0.669	B	0.35770	0.21	T	0.30149	-0.9988	10	0.26408	T	0.33	.	2.8748	0.05628	0.4942:0.0:0.114:0.3918	.	83	Q9H106	SIRPD_HUMAN	S	83	ENSP00000371036:F83S;ENSP00000371034:F83S	ENSP00000371034:F83S	F	-	2	0	SIRPD	1480510	0.001000	0.12720	0.029000	0.17559	0.821000	0.46438	0.243000	0.18106	0.192000	0.20272	0.456000	0.33151	TTT		0.463	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		G	1532510	A	G	1532510	3	3	55	1	0	0	0	0	1	0	0	0	14341	14	1	3	357	3	SIRPD	20	1532510	Missense_Mutation	SNP	A	TCGA-A3-3373-01A-02D-1421-08		1532510	61493010	55	4021											
RBM12	10137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34242653	34242653	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr20:34242653A>G	ENST00000374114.3	-	3	855	c.592T>C	c.(592-594)Tct>Cct	p.S198P	RBM12_ENST00000359646.1_Missense_Mutation_p.S198P|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_5'Flank|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.S198P|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	198	Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S198P(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGTGGCAGAGATGGCATCGCT	0.557																																																1	Substitution - Missense(1)	kidney(1)											138	104	116					20																	34242653		2203	4300	6503	SO:0001583	missense	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.592T>C	20.37:g.34242653A>G	ENSP00000363228:p.Ser198Pro		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	A	9.203	1.029050	0.19512	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458	T;T;T;T	0.26957	2.37;2.37;2.37;1.7	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.21186	0.0510	N	0.08118	0	0.80722	D	1	D	0.60575	0.988	P	0.53313	0.723	T	0.05257	-1.0896	10	0.42905	T	0.14	-12.6978	10.9383	0.47257	0.8604:0.0:0.0:0.1396	.	198	Q9NTZ6	RBM12_HUMAN	P	198	ENSP00000363228:S198P;ENSP00000352668:S198P;ENSP00000363217:S198P;ENSP00000411036:S198P	ENSP00000352668:S198P	S	-	1	0	RBM12	33706067	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.234000	0.51320	2.313000	0.78055	0.454000	0.30748	TCT		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		G	34242653	A	G	34242653	3	3	55	1	0	0	0	0	1	0	0	0	13119	333	12	3	2210	3	RBM12	20	34242653	Missense_Mutation	SNP	A	TCGA-A3-3373-01A-02D-1421-08	32710143	34242653	28782867	56	4022											
R3HDML	140902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	42965937	42965937	+	Missense_Mutation	SNP	T	T	C	rs557561742		TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr20:42965937T>C	ENST00000217043.2	+	1	312	c.140T>C	c.(139-141)cTg>cCg	p.L47P		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	47						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)	p.L47P(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CTGAGTGGCCTGGAGGTGCCC	0.607																																																1	Substitution - Missense(1)	kidney(1)											49	47	48					20																	42965937		2203	4300	6503	SO:0001583	missense	140902			BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.140T>C	20.37:g.42965937T>C	ENSP00000217043:p.Leu47Pro			Missense_Mutation	SNP	ENST00000217043.2	37	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	T	5.977	0.364296	0.11296	.	.	ENSG00000101074	ENST00000217043	T	0.09350	2.99	5.18	4.05	0.47172	CAP domain (1);	0.416862	0.22393	N	0.060648	T	0.07143	0.0181	L	0.34521	1.04	0.50039	D	0.999846	B	0.15930	0.015	B	0.12837	0.008	T	0.29671	-1.0004	10	0.35671	T	0.21	.	2.7064	0.05163	0.2057:0.2281:0.0:0.5662	.	47	Q9H3Y0	CRSPL_HUMAN	P	47	ENSP00000217043:L47P	ENSP00000217043:L47P	L	+	2	0	R3HDML	42399351	0.000000	0.05858	0.998000	0.56505	0.036000	0.12997	-0.012000	0.12699	1.958000	0.56883	0.317000	0.21355	CTG		0.607	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		C	42965937	T	C	42965937	3	2	55	1	0	0	0	0	1	0	0	0	12895	1580	55	3	142	3	R3HDML	20	42965937	Missense_Mutation	SNP	T	TCGA-A3-3373-01A-02D-1421-08	8723284	42965937	20059583	57	4023											
NCOA3	8202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	46256718	46256718	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chr20:46256718A>T	ENST00000371998.3	+	8	965	c.774A>T	c.(772-774)agA>agT	p.R258S	NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000341724.6_Missense_Mutation_p.R258S|NCOA3_ENST00000372004.3_Missense_Mutation_p.R258S|NCOA3_ENST00000371997.3_Missense_Mutation_p.R258S			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	258					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.R258S(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGGAGAAAGAACATTTCCAT	0.358																																																1	Substitution - Missense(1)	kidney(1)											144	146	145					20																	46256718		2203	4300	6503	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.774A>T	20.37:g.46256718A>T	ENSP00000361066:p.Arg258Ser		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954698	0.73902	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.02345	4.35;4.52;4.52;4.33	5.73	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	M	0.69823	2.125	0.51767	D	0.999938	P;D;D;D;D;P	0.89917	0.944;1.0;0.996;0.991;0.967;0.944	P;D;P;P;P;P	0.91635	0.694;0.999;0.908;0.877;0.839;0.694	T	0.00950	-1.1503	10	0.52906	T	0.07	-24.7866	7.2888	0.26354	0.641:0.0:0.359:0.0	.	258;258;262;258;258;258	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	S	258;258;258;258;258;24	ENSP00000342123:R258S;ENSP00000361073:R258S;ENSP00000361066:R258S;ENSP00000361065:R258S	ENSP00000345671:R258S	R	+	3	2	NCOA3	45690125	0.997000	0.39634	0.993000	0.49108	0.730000	0.41778	2.157000	0.42320	1.005000	0.39183	0.533000	0.62120	AGA		0.358	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		T	46256718	A	T	46256718	3	4	55	1	0	0	0	0	1	0	0	0	10232	243	9	5	796	5	NCOA3	20	46256718	Missense_Mutation	SNP	A	TCGA-A3-3373-01A-02D-1421-08	3290781	46256718	16768802	58	4024											
DMD	1756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	32862975	32862975	+	Silent	SNP	T	T	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chrX:32862975T>C	ENST00000357033.4	-	4	395	c.189A>G	c.(187-189)ccA>ccG	p.P63P	DMD_ENST00000288447.4_Silent_p.P55P|DMD_ENST00000378677.2_Silent_p.P59P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	63	ANK2- and ANK-3 binding. {ECO:0000250}.|Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.P58P(1)|p.P59P(1)|p.P63P(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTTTCTTTTGGCTGAGAAC	0.388																																																3	Substitution - coding silent(3)	kidney(3)											138	105	116					X																	32862975		2202	4300	6502	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.189A>G	X.37:g.32862975T>C			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																				0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		C	32862975	T	C	32862975	2	2	55	1	0	0	0	0	0	0	0	1	4582	1799	63	3		3	DMD	23	32862975	Silent	SNP	T	TCGA-A3-3373-01A-02D-1421-08		32862975	122407585	59	4025											
DIAPH2	1730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	96369939	96369939	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3373-01A-02D-1421-08	TCGA-A3-3373-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6cbaac72-ca6e-4c4b-a016-1836959344c8	0cc2be61-ac32-46b9-864f-1092faa4f1c8	g.chrX:96369939G>C	ENST00000324765.8	+	21	2911	c.2564G>C	c.(2563-2565)gGa>gCa	p.G855A	DIAPH2_ENST00000355827.4_Missense_Mutation_p.G855A|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G855A|DIAPH2_ENST00000373061.3_Missense_Mutation_p.G855A|DIAPH2_ENST00000373054.4_Missense_Mutation_p.G851A			O60879	DIAP2_HUMAN	diaphanous-related formin 2	855	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.G855A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CAGTCTTTGGGATTTAAGATC	0.333																																																1	Substitution - Missense(1)	kidney(1)											65	65	65					X																	96369939		2203	4300	6503	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2564G>C	X.37:g.96369939G>C	ENSP00000321348:p.Gly855Ala		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408664	0.83340	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.81	5.81	0.92471	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000001	D	0.86965	0.6060	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87724	0.2575	10	0.87932	D	0	.	19.0174	0.92900	0.0:0.0:1.0:0.0	.	855;855	O60879;O60879-2	DIAP2_HUMAN;.	A	855;851;855;855;855;862	ENSP00000362152:G855A;ENSP00000362145:G851A;ENSP00000348082:G855A;ENSP00000362140:G855A;ENSP00000321348:G855A	ENSP00000321348:G855A	G	+	2	0	DIAPH2	96256595	1.000000	0.71417	0.834000	0.33040	0.941000	0.58515	9.715000	0.98748	2.439000	0.82584	0.600000	0.82982	GGA		0.333	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		C	96369939	G	C	96369939	3	2	55	1	0	0	0	0	1	0	0	0	4521	1174	41	4	2646	4	DIAPH2	23	96369939	Missense_Mutation	SNP	G	TCGA-A3-3373-01A-02D-1421-08	63506964	96369939	58900621	60	4026											
IGSF3	3321	broad.mit.edu	37	1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	rs138851517	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627													A|||	10	0.00199681	0.0023	0.0029	5008	,	,		16651	0.001		0.001	False		,,,				2504	0.0031															0																																										SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1856T>C	1.37:g.117142736A>G	ENSP00000358498:p.Ile619Thr		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096884	0.56075	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.15256	2.44;2.44;2.44	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.132915	0.52532	D	0.000079	T	0.06096	0.0158	N	0.19112	0.55	0.48571	D	0.999675	B;B;B	0.30914	0.162;0.3;0.195	B;B;B	0.33454	0.069;0.164;0.114	T	0.16837	-1.0389	10	0.51188	T	0.08	-37.2914	12.3358	0.55067	1.0:0.0:0.0:0.0	.	639;619;639	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	T	619;639;639	ENSP00000358498:I619T;ENSP00000358495:I639T;ENSP00000321184:I639T	ENSP00000321184:I639T	I	-	2	0	IGSF3	116944259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.960000	0.76036	2.001000	0.58596	0.374000	0.22700	ATC		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		G	117142736	A	G	117142736	3	3	56	1	0	0	0	0	1	0	0	0	7603	333	12	3	1748	3	IGSF3	1	117142736	Missense_Mutation	SNP	A	TCGA-A3-3374-01A-01D-0966-08		117142736	132107885	1	4027											
NAV1	89796	broad.mit.edu	37	1	201772738	201772738	+	Missense_Mutation	SNP	C	C	A	rs191072842		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:201772738C>A	ENST00000367296.4	+	16	3955	c.3535C>A	c.(3535-3537)Caa>Aaa	p.Q1179K	NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1179					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATCAAGAGACAAAACTCCTC	0.443																																																0													99	84	89					1																	201772738		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3535C>A	1.37:g.201772738C>A	ENSP00000356265:p.Gln1179Lys		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	31|31|31	5.098918|5.098918|5.098918	0.94197|0.94197|0.94197	.|.|.	.|.|.	ENSG00000134369|ENSG00000134369|ENSG00000134369	ENST00000438083|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	.|D;D;D;D;D;D|.	.|0.93859|.	.|-3.3;-3.3;-3.3;-3.3;-3.3;-3.3|.	5.0|5.0|5.0	5.0|5.0|5.0	0.66597|0.66597|0.66597	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.77123|0.77123|0.77123	0.4084|0.4084|0.4084	M|M|M	0.77486|0.77486|0.77486	2.375|2.375|2.375	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	.|D;D;P;D|.	.|0.89917|.	.|0.998;1.0;0.934;0.998|.	.|D;D;D;D|.	.|0.80764|.	.|0.991;0.994;0.943;0.991|.	T|T|T	0.78107|0.78107|0.78107	-0.2333|-0.2333|-0.2333	5|10|5	.|0.87932|.	.|D|.	.|0|.	-23.7326|-23.7326|-23.7326	17.9614|17.9614|17.9614	0.89086|0.89086|0.89086	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|788;1179;704;1179|.	.|Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.|.;NAV1_HUMAN;.;.|.	E|K|K	161|1135;1179;1179;1171;1122;704;788|728	.|ENSP00000356271:Q1135K;ENSP00000356265:Q1179K;ENSP00000295624:Q1179K;ENSP00000356266:Q1171K;ENSP00000356269:Q1122K;ENSP00000356264:Q788K|.	.|ENSP00000295624:Q1179K|.	D|Q|T	+|+|+	3|1|2	2|0|0	NAV1|NAV1|NAV1	200039361|200039361|200039361	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	6.020000|6.020000|6.020000	0.70826|0.70826|0.70826	2.332000|2.332000|2.332000	0.79248|0.79248|0.79248	0.558000|0.558000|0.558000	0.71614|0.71614|0.71614	GAC|CAA|ACA		0.443	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		A	201772738	C	A	201772738	3	1	56	1	0	0	0	0	1	0	0	0	10185	479	17	4	3654	4	NAV1	1	201772738	Missense_Mutation	SNP	C	TCGA-A3-3374-01A-01D-0966-08	84630002	201772738	47477883	2	4028											
CAPN2	824	broad.mit.edu	37	1	223954130	223954130	+	Silent	SNP	A	A	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:223954130A>C	ENST00000295006.5	+	16	2061	c.1752A>C	c.(1750-1752)ctA>ctC	p.L584L	CAPN2_ENST00000433674.2_Silent_p.L506L|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	584	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTGACATGCTAGATGTATCCT	0.403																																																0													136	119	125					1																	223954130		2203	4300	6503	SO:0001819	synonymous_variant	824			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1752A>C	1.37:g.223954130A>C			A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	CCDS31035.1																																																																																				0.403	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		C	223954130	A	C	223954130	2	2	56	1	0	0	0	0	0	0	0	1	2629	407	15	5		5	CAPN2	1	223954130	Silent	SNP	A	TCGA-A3-3374-01A-01D-0966-08	22181392	223954130	25296491	3	4029											
GREB1	9687	broad.mit.edu	37	2	11774455	11774455	+	Silent	SNP	C	C	T	rs368127534		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:11774455C>T	ENST00000381486.2	+	29	5490	c.5190C>T	c.(5188-5190)aaC>aaT	p.N1730N	GREB1_ENST00000396123.1_Silent_p.N728N|GREB1_ENST00000234142.5_Silent_p.N1730N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1730						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACCCAGAACGTGCAGTACA	0.657																																					Ovarian(39;850 945 2785 23371 33093)											0													35	37	36					2																	11774455		2100	4232	6332	SO:0001819	synonymous_variant	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5190C>T	2.37:g.11774455C>T			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	CCDS42655.1																																																																																				0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11774455	C	T	11774455	2	4	56	1	0	0	0	0	0	0	0	1	6762	535	19	1		1	GREB1	2	11774455	Silent	SNP	C	TCGA-A3-3374-01A-01D-0966-08		11774455	231424918	4	4030											
FAM123C	205147	broad.mit.edu	37	2	131520926	131520926	+	Silent	SNP	C	C	T	rs532564436		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:131520926C>T	ENST00000423981.1	+	2	1391	c.1281C>T	c.(1279-1281)caC>caT	p.H427H	AMER3_ENST00000321420.4_Silent_p.H427H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	427					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AGCTCTTCCACGACCCCAGCG	0.637													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14930	0.0		0.0	False		,,,				2504	0.0															0													45	43	43					2																	131520926		2203	4300	6503	SO:0001819	synonymous_variant	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1281C>T	2.37:g.131520926C>T			B7ZLH6	Silent	SNP	ENST00000423981.1	37	CCDS2164.1																																																																																				0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		T	131520926	C	T	131520926	2	4	56	1	0	0	0	0	0	0	0	1	5426	535	19	1		1	FAM123C	2	131520926	Silent	SNP	C	TCGA-A3-3374-01A-01D-0966-08	119746471	131520926	111678447	5	4031											
SUSD5	26032	broad.mit.edu	37	3	33195040	33195040	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:33195040C>A	ENST00000309558.3	-	5	1501	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	362					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTCACCACTGGATCTCCT	0.552																																																0													106	110	108					3																	33195040		2124	4248	6372	SO:0001583	missense	26032			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1084G>T	3.37:g.33195040C>A	ENSP00000308727:p.Val362Leu			Missense_Mutation	SNP	ENST00000309558.3	37	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.768011	0.00645	.	.	ENSG00000173705	ENST00000309558	T	0.06528	3.29	5.31	1.94	0.25998	.	1.135350	0.06349	N	0.709584	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.46569	-0.9182	10	0.09590	T	0.72	-5.6378	7.6367	0.28270	0.0:0.445:0.0:0.555	.	362	O60279	SUSD5_HUMAN	L	362	ENSP00000308727:V362L	ENSP00000308727:V362L	V	-	1	0	SUSD5	33170044	0.000000	0.05858	0.006000	0.13384	0.117000	0.20001	0.038000	0.13862	0.203000	0.20529	0.650000	0.86243	GTG		0.552	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		A	33195040	C	A	33195040	3	1	56	1	0	0	0	0	1	0	0	0	15416	565	20	4	809	4	SUSD5	3	33195040	Missense_Mutation	SNP	C	TCGA-A3-3374-01A-01D-0966-08		33195040	164827390	6	4032											
KIAA1143	57456	broad.mit.edu	37	3	44794950	44794950	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:44794950T>C	ENST00000296121.4	-	3	407	c.348A>G	c.(346-348)tcA>tcG	p.S116S	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	116										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTTCTTTTTTGAGCTTGCTG	0.373																																																0													77	80	79					3																	44794950		2203	4297	6500	SO:0001819	synonymous_variant	57456			AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.348A>G	3.37:g.44794950T>C			A8K0I4|Q96HJ8|Q9ULS7	Silent	SNP	ENST00000296121.4	37	CCDS2721.1																																																																																				0.373	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696		C	44794950	T	C	44794950	2	2	56	1	0	0	0	0	0	0	0	1	8211	1799	63	3		3	KIAA1143	3	44794950	Silent	SNP	T	TCGA-A3-3374-01A-01D-0966-08	11599910	44794950	153227480	7	4033											
MST1	63891	broad.mit.edu	37	3	49725275	49725279	+	5'Flank	DEL	GTGCT	GTGCT	-	rs370878670		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:49725275_49725279delGTGCT	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Intron|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000494828.2_Intron|MST1_ENST00000449682.2_Frame_Shift_Del_p.QH49fs|MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|AC099668.5_ENST00000563780.1_RNA	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CATGTAGCAGGTGCTGTAGCTCTGT	0.61																																																0																																										SO:0001631	upstream_gene_variant	4485			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725275_49725279delGTGCT	Exception_encountered		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Del	DEL	ENST00000327697.6	37	CCDS33758.1																																																																																				0.61	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		-	49725279	GTGCT	-	49725275	6	5	56	0	1	1	0	1	0	0	0	0	9892	1252	44	0		0	MST1	3	49725275	5'Flank	DEL	GTGCT	TCGA-A3-3374-01A-01D-0966-08	4930325	49725275	148297155	8	4034											
POLQ	10721	broad.mit.edu	37	3	121238716	121238723	+	Splice_Site	DEL	ACCTACTG	ACCTACTG	-	rs375226226|rs544117810	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:121238716_121238723delACCTACTG	ENST00000264233.5	-	9	1591_1597	c.1463_1469delCAGTAGGT	c.(1462-1470)acagtaggt>at	p.TVG488fs	POLQ_ENST00000488282.1_5'Flank	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	488	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAACTCACTTACCTACTGTGTCCACTCC	0.428								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											0																																										SO:0001630	splice_region_variant	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1468+1CAGTAGGT>-	3.37:g.121238716_121238723delACCTACTG			O95160|Q6VMB5	Splice_Site	DEL	ENST00000264233.5	37	CCDS33833.1																																																																																				0.428	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	Frame_Shift_Del	-	121238723	ACCTACTG	-	121238716	8	5	56	1	0	1	0	1	0	0	1	0	12210	405	14	0	6390	0	POLQ	3	121238716	Splice_Site	DEL	ACCTACTG	TCGA-A3-3374-01A-01D-0966-08	71513441	121238716	76783714	9	4035											
TMEM108	66000	broad.mit.edu	37	3	133098622	133098622	+	Missense_Mutation	SNP	G	G	A	rs367779843		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:133098622G>A	ENST00000321871.6	+	4	277	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000515826.1_Missense_Mutation_p.E23K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	23						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCACTGACCGAAGCGCTGGC	0.552																																																0									LYS/GLU,LYS/GLU	0,4406		0,0,2203	299	312	307		67,67	3.5	0.8	3		307	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMEM108	NM_023943.2,NM_001136469.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	23/576,23/576	133098622	1,13005	2203	4300	6503	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.67G>A	3.37:g.133098622G>A	ENSP00000324651:p.Glu23Lys		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	g	15.14	2.744866	0.49151	0.0	1.16E-4	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000512137;ENST00000511555;ENST00000515826;ENST00000510183	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	4.41	3.52	0.40303	.	0.237850	0.21829	N	0.068514	T	0.30854	0.0778	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.24132	0.098;0.098	B;B	0.16722	0.016;0.016	T	0.16188	-1.0411	10	0.39692	T	0.17	-2.7734	9.0831	0.36565	0.0849:0.1477:0.7675:0.0	.	23;23	E9PB58;Q6UXF1	.;TM108_HUMAN	K	23	ENSP00000324651:E23K;ENSP00000376838:E23K;ENSP00000426301:E23K;ENSP00000422196:E23K;ENSP00000423338:E23K;ENSP00000421486:E23K	ENSP00000324651:E23K	E	+	1	0	TMEM108	134581312	1.000000	0.71417	0.836000	0.33094	0.844000	0.47949	5.439000	0.66556	0.955000	0.37878	0.556000	0.70494	GAA		0.552	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		A	133098622	G	A	133098622	3	1	56	1	0	0	0	0	1	0	0	0	16029	1059	37	1	73	1	TMEM108	3	133098622	Missense_Mutation	SNP	G	TCGA-A3-3374-01A-01D-0966-08	11859906	133098622	64923808	10	4036											
EHHADH	1962	broad.mit.edu	37	3	184953206	184953206	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:184953206T>C	ENST00000231887.3	-	3	298	c.223A>G	c.(223-225)Aca>Gca	p.T75A	EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	75	Enoyl-CoA hydratase / isomerase.		T -> I (in dbSNP:rs1062553). {ECO:0000269|PubMed:8188243}.		fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TGTCCCAGTGTAAGGCCAAAT	0.493																																																0													59	56	57					3																	184953206		2203	4300	6503	SO:0001583	missense	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.223A>G	3.37:g.184953206T>C	ENSP00000231887:p.Thr75Ala		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	T	9.739	1.164469	0.21538	.	.	ENSG00000113790	ENST00000537544;ENST00000231887	T	0.67865	-0.29	5.55	-11.1	0.00147	Crotonase, core (1);	1.862110	0.02321	N	0.073037	T	0.38453	0.1041	N	0.17800	0.525	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32955	-0.9887	10	0.10636	T	0.68	3.2226	2.1963	0.03912	0.2837:0.4894:0.1228:0.1041	.	75	Q08426	ECHP_HUMAN	A	75	ENSP00000231887:T75A	ENSP00000231887:T75A	T	-	1	0	EHHADH	186435900	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.617000	0.02051	-3.373000	0.00176	-2.426000	0.00216	ACA		0.493	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			C	184953206	T	C	184953206	3	2	56	1	0	0	0	0	1	0	0	0	4984	1638	57	3	1968	3	EHHADH	3	184953206	Missense_Mutation	SNP	T	TCGA-A3-3374-01A-01D-0966-08	51854584	184953206	13069224	11	4037											
MAP3K13	9175	broad.mit.edu	37	3	185198109	185198109	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:185198109G>C	ENST00000265026.3	+	13	2925	c.2591G>C	c.(2590-2592)aGt>aCt	p.S864T	MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAAATACCAGTGACCACTCA	0.488																																																0													100	98	99					3																	185198109		2203	4300	6503	SO:0001583	missense	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2591G>C	3.37:g.185198109G>C	ENSP00000265026:p.Ser864Thr			Missense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289597	0.80914	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	N	0.12182	0.205	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.991;0.991;0.98	T	0.13683	-1.0500	10	0.39692	T	0.17	.	19.8657	0.96803	0.0:0.0:1.0:0.0	.	720;657;864	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	T	657;864;720;720;864	ENSP00000411483:S657T;ENSP00000399910:S864T;ENSP00000409325:S720T;ENSP00000439257:S720T;ENSP00000265026:S864T	ENSP00000265026:S864T	S	+	2	0	MAP3K13	186680803	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.804000	0.99143	2.686000	0.91538	0.655000	0.94253	AGT		0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		C	185198109	G	C	185198109	3	2	56	1	0	0	0	0	1	0	0	0	9249	1029	36	4	2637	4	MAP3K13	3	185198109	Missense_Mutation	SNP	G	TCGA-A3-3374-01A-01D-0966-08	244903	185198109	12824321	12	4038											
HERC6	55008	broad.mit.edu	37	4	89334236	89334236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:89334236C>T	ENST00000264346.7	+	12	1435	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HERC6_ENST00000380265.5_Missense_Mutation_p.T459M	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	459					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T459M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGATAACTACGTGTCTCGAG	0.443																																																1	Substitution - Missense(1)	large_intestine(1)											215	206	209					4																	89334236		1920	4150	6070	SO:0001583	missense	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1376C>T	4.37:g.89334236C>T	ENSP00000264346:p.Thr459Met		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474851	0.26511	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.39997	1.05;1.08	4.76	-1.71	0.08133	.	1.440270	0.04266	N	0.341279	T	0.51991	0.1707	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.732	T	0.39921	-0.9590	10	0.54805	T	0.06	.	1.1796	0.01842	0.3773:0.2162:0.2472:0.1593	.	459;459	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	M	459	ENSP00000369617:T459M;ENSP00000264346:T459M	ENSP00000264346:T459M	T	+	2	0	HERC6	89553259	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.630000	0.05502	-0.683000	0.05190	-0.302000	0.09304	ACG		0.443	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			T	89334236	C	T	89334236	3	4	56	1	0	0	0	0	1	0	0	0	7064	536	19	1	1219	1	HERC6	4	89334236	Missense_Mutation	SNP	C	TCGA-A3-3374-01A-01D-0966-08		89334236	101820040	13	4039											
GRIA1	2890	broad.mit.edu	37	5	153190646	153190646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:153190646G>A	ENST00000285900.5	+	16	2925	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	861					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACCCTCCCCCGCAACAGCGGG	0.592																																																0													45	50	48					5																	153190646		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2582G>A	5.37:g.153190646G>A	ENSP00000285900:p.Arg861His		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950626	0.92660	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.12984	2.68;2.63;2.68;2.63;2.63;2.67;2.67	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.996;0.999;0.996	P;P;P;P;P	0.62014	0.791;0.791;0.572;0.897;0.572	T	0.09618	-1.0666	10	0.87932	D	0	.	17.6489	0.88157	0.0:0.0:1.0:0.0	.	871;871;781;861;861	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	H	861;861;781;861;794;792;871;871	ENSP00000285900:R861H;ENSP00000427920:R781H;ENSP00000339343:R861H;ENSP00000427864:R794H;ENSP00000442108:R792H;ENSP00000428994:R871H;ENSP00000415569:R871H	ENSP00000285900:R861H	R	+	2	0	GRIA1	153170839	1.000000	0.71417	0.919000	0.36401	0.877000	0.50540	9.200000	0.95010	2.399000	0.81585	0.655000	0.94253	CGC		0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			A	153190646	G	A	153190646	3	1	56	1	0	0	0	0	1	0	0	0	6769	1087	38	1	2763	1	GRIA1	5	153190646	Missense_Mutation	SNP	G	TCGA-A3-3374-01A-01D-0966-08		153190646	27724614	14	4040											
FLT4	2324	broad.mit.edu	37	5	180058747	180058748	+	Frame_Shift_Ins	INS	-	-	G	rs201069563		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:180058747_180058748insG	ENST00000261937.6	-	2	167_168	c.89_90insC	c.(88-90)ccgfs	p.P30fs	FLT4_ENST00000502649.1_Frame_Shift_Ins_p.P30fs|FLT4_ENST00000393347.3_Frame_Shift_Ins_p.P30fs|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	30	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P30fs*3(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTCAAGGTCGGGGGGGTCAT	0.634																																					Colon(97;1075 1466 27033 27547 35871)											2	Deletion - Frameshift(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.90dupC	5.37:g.180058754_180058754dupG	ENSP00000261937:p.Pro30fs		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Frame_Shift_Ins	INS	ENST00000261937.6	37	CCDS4457.1																																																																																				0.634	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			G	180058748	-	G	180058747	7	5	56	1	0	1	1	0	0	0	0	0	5946	871	31	0	4125	0	FLT4	5	180058747	Frame_Shift_Ins	INS	-	TCGA-A3-3374-01A-01D-0966-08	26868101	180058747	856513	15	4041											
SYNE1	23345	broad.mit.edu	37	6	152749365	152749365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:152749365C>T	ENST00000367255.5	-	37	5552	c.4951G>A	c.(4951-4953)Gag>Aag	p.E1651K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1651					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCAGATTCTCCAGCGCCGTC	0.512										HNSCC(10;0.0054)																																						0													196	204	201					6																	152749365		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4951G>A	6.37:g.152749365C>T	ENSP00000356224:p.Glu1651Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984058	0.74474	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.87	5.87	0.94306	.	0.196546	0.35179	N	0.003396	T	0.58764	0.2145	M	0.65498	2.005	0.80722	D	1	P;P;P;P;P	0.49862	0.856;0.866;0.929;0.866;0.929	B;B;P;B;P	0.51582	0.393;0.419;0.674;0.419;0.539	T	0.61476	-0.7055	10	0.66056	D	0.02	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	1634;1651;1651;1651;1658	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	1651;1658;1651;1658;1721;1651	ENSP00000356224:E1651K;ENSP00000396024:E1658K;ENSP00000265368:E1651K;ENSP00000390975:E1658K;ENSP00000341887:E1721K;ENSP00000356222:E1651K	ENSP00000265368:E1651K	E	-	1	0	SYNE1	152791058	1.000000	0.71417	0.866000	0.34008	0.585000	0.36419	6.449000	0.73473	2.785000	0.95823	0.655000	0.94253	GAG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152749365	C	T	152749365	3	4	56	1	0	0	0	0	1	0	0	0	15450	864	30	2	21955	2	SYNE1	6	152749365	Missense_Mutation	SNP	C	TCGA-A3-3374-01A-01D-0966-08		152749365	18365702	16	4042											
PNPLA8	50640	broad.mit.edu	37	7	108155503	108155504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:108155503_108155504insC	ENST00000422087.1	-	4	838_839	c.432_433insG	c.(430-435)tggttafs	p.L145fs	PNPLA8_ENST00000436062.1_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000453144.1_Frame_Shift_Ins_p.L45fs|PNPLA8_ENST00000426128.2_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000388728.5_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000257694.8_Frame_Shift_Ins_p.L145fs	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	145					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTCTGTTTTAACCAGCCACTAT	0.327																																																0																																										SO:0001589	frameshift_variant	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.433dupG	7.37:g.108155505_108155505dupC	ENSP00000410804:p.Leu145fs		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Frame_Shift_Ins	INS	ENST00000422087.1	37	CCDS34733.1																																																																																				0.327	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		C	108155504	-	C	108155503	7	5	56	1	0	1	1	0	0	0	0	0	12173	40	2	0	1951	0	PNPLA8	7	108155503	Frame_Shift_Ins	INS	-	TCGA-A3-3374-01A-01D-0966-08		108155503	50983160	17	4043											
CPA5	93979	broad.mit.edu	37	7	130008311	130008311	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:130008311G>A	ENST00000485477.1	+	12	2313	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000355388.3_Missense_Mutation_p.S395N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	395						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TACGCCTTCAGCTTTGAGCTC	0.567																																																0													153	134	140					7																	130008311		2203	4300	6503	SO:0001583	missense	93979			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1184G>A	7.37:g.130008311G>A	ENSP00000420237:p.Ser395Asn		G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	CCDS5819.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.546222|2.546222	0.45383|0.45383	.|.	.|.	ENSG00000158525|ENSG00000158525	ENST00000431780;ENST00000479492|ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213	T|T;T;T;T;T;T	0.12774|0.03386	2.65|3.95;3.95;3.95;3.95;3.95;3.95	5.81|5.81	0.429|0.429	0.16506|0.16506	.|Peptidase M14, carboxypeptidase A (2);	.|0.335361	.|0.29480	.|N	.|0.012032	T|T	0.06280|0.06280	0.0162|0.0162	L|L	0.49126|0.49126	1.545|1.545	0.26105|0.26105	N|N	0.980764|0.980764	P|P	0.35272|0.36495	0.493|0.556	B|B	0.30495|0.43018	0.116|0.405	T|T	0.19224|0.19224	-1.0312|-1.0312	8|9	.|.	.|.	.|.	.|.	13.7715|13.7715	0.63029|0.63029	0.0:0.5372:0.3683:0.0945|0.0:0.5372:0.3683:0.0945	.|.	367|395	G3V0G8|Q8WXQ8	.|CBPA5_HUMAN	T|N	367;44|395	ENSP00000393045:A367T|ENSP00000347549:S395N;ENSP00000418183:S395N;ENSP00000419025:S395N;ENSP00000420237:S395N;ENSP00000417314:S395N;ENSP00000376907:S395N	.|.	A|S	+|+	1|2	0|0	CPA5|CPA5	129795547|129795547	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.021000|0.021000	0.10359|0.10359	2.040000|2.040000	0.41203|0.41203	0.065000|0.065000	0.16485|0.16485	-0.181000|-0.181000	0.13052|0.13052	GCT|AGC		0.567	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		A	130008311	G	A	130008311	3	1	56	1	0	0	0	0	1	0	0	0	3795	971	34	2	1226	2	CPA5	7	130008311	Missense_Mutation	SNP	G	TCGA-A3-3374-01A-01D-0966-08	21852808	130008311	29130352	18	4044											
BLK	640	broad.mit.edu	37	8	11412980	11412980	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:11412980C>A	ENST00000259089.4	+	8	1351	c.759C>A	c.(757-759)ggC>ggA	p.G253G	RP11-148O21.4_ENST00000528629.1_RNA|BLK_ENST00000529894.1_Silent_p.G182G|RP11-148O21.2_ENST00000533322.1_RNA|RP11-148O21.6_ENST00000602626.1_lincRNA|RP11-148O21.3_ENST00000527922.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GACAATTCGGCGAAGTCTGGA	0.607																																																0													108	109	109					8																	11412980		2203	4300	6503	SO:0001819	synonymous_variant	640			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.759C>A	8.37:g.11412980C>A			Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	CCDS5982.1																																																																																				0.607	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			A	11412980	C	A	11412980	2	1	56	1	0	0	0	0	0	0	0	1	1444	755	27	4		4	BLK	8	11412980	Silent	SNP	C	TCGA-A3-3374-01A-01D-0966-08		11412980	134951042	19	4045											
ANGPT1	284	broad.mit.edu	37	8	108276471	108276471	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:108276471T>C	ENST00000520734.1	-	7	999	c.714A>G	c.(712-714)aaA>aaG	p.K238K	ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	438					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGAGGGCACATTTGCACATAC	0.433																																																0													134	113	120					8																	108276471		2203	4300	6503	SO:0001819	synonymous_variant	284			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.714A>G	8.37:g.108276471T>C			Q5HYA0	Silent	SNP	ENST00000520734.1	37																																																																																					0.433	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		C	108276471	T	C	108276471	2	2	56	1	0	0	0	0	0	0	0	1	610	1490	52	3		3	ANGPT1	8	108276471	Silent	SNP	T	TCGA-A3-3374-01A-01D-0966-08	96863491	108276471	38087551	20	4046											
TRMT12	55039	broad.mit.edu	37	8	125463612	125463612	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:125463612C>G	ENST00000328599.3	+	1	565	c.444C>G	c.(442-444)ttC>ttG	p.F148L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	148					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGACTGTTTCCAAGCCAAGC	0.567																																																0													77	78	77					8																	125463612		2203	4300	6503	SO:0001583	missense	55039			AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 2"	611244	"tRNA methyltranferase 12 homolog (S. cerevisiae)"			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.444C>G	8.37:g.125463612C>G	ENSP00000329858:p.Phe148Leu		Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143626	0.57044	.	.	ENSG00000183665	ENST00000328599	T	0.22134	1.97	4.55	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	L	0.49256	1.55	0.52099	D	0.999948	P	0.52061	0.95	P	0.61328	0.887	T	0.30357	-0.9981	10	0.02654	T	1	-14.9229	9.0902	0.36605	0.0:0.7984:0.0:0.2016	.	148	Q53H54	TYW2_HUMAN	L	148	ENSP00000329858:F148L	ENSP00000329858:F148L	F	+	3	2	TRMT12	125532793	0.999000	0.42202	1.000000	0.80357	0.788000	0.44548	1.637000	0.37155	0.515000	0.28320	-0.367000	0.07326	TTC		0.567	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		G	125463612	C	G	125463612	3	3	56	1	0	0	0	0	1	0	0	0	16569	854	30	4	446	4	TRMT12	8	125463612	Missense_Mutation	SNP	C	TCGA-A3-3374-01A-01D-0966-08	17187141	125463612	20900410	21	4047											
EPPK1	83481	broad.mit.edu	37	8	144940615	144940615	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:144940615G>A	ENST00000525985.1	-	2	6878	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T				P58107	EPIPL_HUMAN	epiplakin 1	2269						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGAAGCCGGTGGCCGCCT	0.716																																																0													36	36	36					8																	144940615		2150	4233	6383	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6807C>T	8.37:g.144940615G>A			Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																					0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144940615	G	A	144940615	2	1	56	1	0	0	0	0	0	0	0	1	5192	1103	39	1		1	EPPK1	8	144940615	Silent	SNP	G	TCGA-A3-3374-01A-01D-0966-08	19477003	144940615	1423407	22	4048											
FLJ46321	389763	broad.mit.edu	37	9	84607291	84607291	+	Missense_Mutation	SNP	T	T	G	rs201182137	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:84607291T>G	ENST00000344803.2	+	4	1953	c.1906T>G	c.(1906-1908)Ttg>Gtg	p.L636V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	636					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCAGGAAAGTTTGTGGGGCTT	0.478													G|||	3	0.000599042	0.0008	0.0	5008	,	,		19868	0.0		0.001	False		,,,				2504	0.001															0								G	VAL/LEU	0,3730		0,0,1865	101	98	99		1906	-3.7	0	9		99	1,8223		0,1,4111	no	missense	FAM75D1	NM_001001670.2	32	0,1,5976	GG,GT,TT		0.0122,0.0,0.0084	benign	636/1577	84607291	1,11953	1865	4112	5977	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1906T>G	9.37:g.84607291T>G	ENSP00000341988:p.Leu636Val			Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	4.363	0.066840	0.08388	0.0	1.22E-4	ENSG00000214929	ENST00000344803	T	0.05786	3.39	3.83	-3.67	0.04476	.	1.454400	0.04584	N	0.395509	T	0.02970	0.0088	N	0.11023	0.085	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43261	-0.9402	10	0.16420	T	0.52	0.4754	3.7406	0.08528	0.108:0.096:0.4463:0.3497	.	636	Q6ZQQ2	F75D1_HUMAN	V	636	ENSP00000341988:L636V	ENSP00000341988:L636V	L	+	1	2	FAM75D1	83797111	0.011000	0.17503	0.002000	0.10522	0.000000	0.00434	-0.756000	0.04777	-1.293000	0.02362	-0.729000	0.03580	TTG		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		G	84607291	T	G	84607291	3	3	56	1	0	0	0	0	1	0	0	0	5934	1838	64	5	1920	5	FLJ46321	9	84607291	Missense_Mutation	SNP	T	TCGA-A3-3374-01A-01D-0966-08		84607291	56606140	23	4049	43	2									
FLJ46321	389763	broad.mit.edu	37	9	84607299	84607299	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:84607299C>T	ENST00000344803.2	+	4	1961	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	638					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G638G(2)									GTTTGTGGGGCTTACCCTCTG	0.478																																																2	Substitution - coding silent(2)	lung(2)											101	97	99					9																	84607299		1860	4112	5972	SO:0001819	synonymous_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1914C>T	9.37:g.84607299C>T				Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																				0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84607299	C	T	84607299	2	4	56	1	0	0	0	0	0	0	0	1	5934	784	28	2		2	FLJ46321	9	84607299	Silent	SNP	C	TCGA-A3-3374-01A-01D-0966-08	8	84607299	56606132	24	4050	43	2									
SETX	23064	broad.mit.edu	37	9	135158714	135158714	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:135158714T>C	ENST00000224140.5	-	19	6665	c.6483A>G	c.(6481-6483)ttA>ttG	p.L2161L	SETX_ENST00000393220.1_Silent_p.L2161L|SETX_ENST00000372169.2_Silent_p.L2161L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2161					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTCAAGTAGTAAACCACCAC	0.478																																																0													206	159	175					9																	135158714		2203	4300	6503	SO:0001819	synonymous_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6483A>G	9.37:g.135158714T>C			A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	CCDS6947.1																																																																																				0.478	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		C	135158714	T	C	135158714	2	2	56	1	0	0	0	0	0	0	0	1	14147	1635	57	3		3	SETX	9	135158714	Silent	SNP	T	TCGA-A3-3374-01A-01D-0966-08	50551415	135158714	6054717	25	4051											
DCLRE1C	64421	broad.mit.edu	37	10	14950897	14950897	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:14950897G>A	ENST00000378278.2	-	14	1626	c.1589C>T	c.(1588-1590)aCt>aTt	p.T530I	DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T415I|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T183I|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T415I			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	530					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGAGATGTGAGTTGATTCTCC	0.453								Non-homologous end-joining																																								0													68	66	67					10																	14950897		2203	4300	6503	SO:0001583	missense	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1589C>T	10.37:g.14950897G>A	ENSP00000367527:p.Thr530Ile		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608865	0.87258	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.93	5.93	0.95920	.	0.269175	0.41823	D	0.000806	T	0.44540	0.1298	L	0.32530	0.975	0.48632	D	0.999684	D;D	0.89917	1.0;0.986	D;P	0.91635	0.999;0.731	T	0.30090	-0.9990	10	0.87932	D	0	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	415;530	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	I	410;415;415;415;410;410;410;530;410;183	ENSP00000400529:T410I;ENSP00000367492:T415I;ENSP00000350349:T415I;ENSP00000367496:T415I;ENSP00000380030:T410I;ENSP00000367503:T410I;ENSP00000367502:T410I;ENSP00000367527:T530I;ENSP00000367506:T410I;ENSP00000367488:T183I	ENSP00000350349:T415I	T	-	2	0	DCLRE1C	14990903	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	7.159000	0.77483	2.797000	0.96272	0.655000	0.94253	ACT		0.453	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		A	14950897	G	A	14950897	3	1	56	1	0	0	0	0	1	0	0	0	4298	1029	36	2	493	2	DCLRE1C	10	14950897	Missense_Mutation	SNP	G	TCGA-A3-3374-01A-01D-0966-08		14950897	120583850	26	4052											
SORCS3	22986	broad.mit.edu	37	10	106976771	106976771	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:106976771C>T	ENST00000369701.3	+	19	2852	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	SORCS3_ENST00000369699.4_Silent_p.I161I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGCCCCATCGAGGACGGCA	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)											1	Substitution - coding silent(1)	stomach(1)											165	125	139					10																	106976771		2203	4300	6503	SO:0001819	synonymous_variant	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2625C>T	10.37:g.106976771C>T			Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	CCDS7558.1																																																																																				0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		T	106976771	C	T	106976771	2	4	56	1	0	0	0	0	0	0	0	1	14938	874	31	1		1	SORCS3	10	106976771	Silent	SNP	C	TCGA-A3-3374-01A-01D-0966-08	92025874	106976771	28557976	27	4053											
MON2	23041	broad.mit.edu	37	12	62918364	62918364	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:62918364C>A	ENST00000393632.2	+	9	1445	c.1054C>A	c.(1054-1056)Cga>Aga	p.R352R	MON2_ENST00000552738.1_Silent_p.R352R|MON2_ENST00000546600.1_Silent_p.R352R|MON2_ENST00000280379.6_Silent_p.R352R|MON2_ENST00000393629.2_Silent_p.R352R|MON2_ENST00000393630.3_Silent_p.R352R|MON2_ENST00000552115.1_Silent_p.R352R	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	352					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACAGTGGCTACGAGCTGTTGC	0.343																																																0													60	64	63					12																	62918364		2203	4300	6503	SO:0001819	synonymous_variant	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1054C>A	12.37:g.62918364C>A			A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	CCDS31849.1																																																																																				0.343	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		A	62918364	C	A	62918364	2	1	56	1	0	0	0	0	0	0	0	1	9702	528	19	4		4	MON2	12	62918364	Silent	SNP	C	TCGA-A3-3374-01A-01D-0966-08		62918364	70933531	28	4054											
SLC25A21	89874	broad.mit.edu	37	14	37194883	37194883	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:37194883C>G	ENST00000331299.5	-	6	846		c.e6-1		SLC25A21_ENST00000555449.1_Splice_Site	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21						cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGCGAATGTCTAGAAAAATT	0.358																																																0													74	71	72					14																	37194883		2203	4300	6503	SO:0001630	splice_region_variant	89874			AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"Solute carriers"	14411	protein-coding gene	gene with protein product		607571	"solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.331-1G>C	14.37:g.37194883C>G			A8K0L0|G3V4L5|Q3MJ99	Splice_Site	SNP	ENST00000331299.5	37	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848068	0.51164	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3324	0.94297	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A21	36264634	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.940000	0.70187	2.569000	0.86673	0.650000	0.86243	.		0.358	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631	Intron	G	37194883	C	G	37194883	5	3	56	1	0	0	0	0	0	0	1	0	14490	927	32	4	594	4	SLC25A21	14	37194883	Splice_Site	SNP	C	TCGA-A3-3374-01A-01D-0966-08		37194883	70154657	29	4055											
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597									Oculocutaneous Albinism																																							0													152	106	122					15																	28230277		2203	4300	6503	SO:0001583	missense	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1297G>A	15.37:g.28230277C>T	ENSP00000346659:p.Ala433Thr		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797073	0.31777	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90900	-2.75;-2.75;-2.75	5.2	5.2	0.72013	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	N	0.00815	-1.16	0.53688	D	0.999974	P;P	0.46277	0.525;0.875	B;P	0.52217	0.072;0.693	T	0.80197	-0.1482	10	0.02654	T	1	-11.1821	18.0938	0.89482	0.0:1.0:0.0:0.0	.	409;433	Q04671-2;Q04671	.;P_HUMAN	T	433;409;433	ENSP00000346659:A433T;ENSP00000261276:A409T;ENSP00000372457:A433T	ENSP00000261276:A409T	A	-	1	0	OCA2	25903872	1.000000	0.71417	0.749000	0.31150	0.460000	0.32559	7.083000	0.76859	2.576000	0.86940	0.655000	0.94253	GCG		0.597	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		T	28230277	C	T	28230277	3	4	56	1	0	0	0	0	1	0	0	0	10817	768	27	1	1267	1	OCA2	15	28230277	Missense_Mutation	SNP	C	TCGA-A3-3374-01A-01D-0966-08		28230277	74301115	30	4056											
JMJD7	100137047	broad.mit.edu	37	15	42127000	42127000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:42127000C>T	ENST00000397299.4	+	2	167	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	JMJD7_ENST00000408047.1_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R43W|PLA2G4B_ENST00000452633.1_5'Flank|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R43W|JMJD7_ENST00000405106.2_3'UTR|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R43W	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	43										NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						CCACTTCTACCGGGACTGGGT	0.602																																																0													111	109	110					15																	42127000		2203	4300	6503	SO:0001583	missense	8681				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.127C>T	15.37:g.42127000C>T	ENSP00000380467:p.Arg43Trp		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000397299.4	37	CCDS45240.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.596383	0.86953	.	.	ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000542534;ENST00000382448;ENST00000342159	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.24	2.13	0.27403	.	0.000000	0.47455	D	0.000232	D	0.86460	0.5938	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.973;0.997;0.999	D	0.89347	0.3658	10	0.72032	D	0.01	0.4641	12.7778	0.57459	0.2929:0.707:0.0:0.0	.	43;43;43	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	W	43	ENSP00000380467:R43W;ENSP00000441905:R43W;ENSP00000371886:R43W;ENSP00000342785:R43W	ENSP00000380467:R43W	R	+	1	2	JMJD7-PLA2G4B;JMJD7	39914292	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	2.165000	0.42396	1.100000	0.41517	0.655000	0.94253	CGG		0.602	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326082.1	NM_001114632		T	42127000	C	T	42127000	3	4	56	1	0	0	0	0	1	0	0	0	7956	643	23	1	133	1	JMJD7	15	42127000	Missense_Mutation	SNP	C	TCGA-A3-3374-01A-01D-0966-08	13896723	42127000	60404392	31	4057											
VPS13C	54832	broad.mit.edu	37	15	62254983	62254984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:62254983_62254984insA	ENST00000261517.5	-	33	3472_3473	c.3399_3400insT	c.(3397-3402)attgtcfs	p.V1134fs	VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.V1134fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.V1091fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.V1091fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACATCTGTGACAATAATATTTT	0.322																																																0																																										SO:0001589	frameshift_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3400dupT	15.37:g.62254985_62254985dupA	ENSP00000261517:p.Val1134fs			Frame_Shift_Ins	INS	ENST00000261517.5	37	CCDS32257.1																																																																																				0.322	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		A	62254984	-	A	62254983	7	5	56	1	0	1	1	0	0	0	0	0	17196	478	17	0	8101	0	VPS13C	15	62254983	Frame_Shift_Ins	INS	-	TCGA-A3-3374-01A-01D-0966-08	20127983	62254983	40276409	32	4058											
FES	2242	broad.mit.edu	37	15	91436556	91436557	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:91436556_91436557insC	ENST00000328850.3	+	16	2099_2100	c.1957_1958insC	c.(1957-1959)gccfs	p.A653fs	FES_ENST00000414248.2_Frame_Shift_Ins_p.A525fs|FES_ENST00000394300.3_Frame_Shift_Ins_p.A595fs|FES_ENST00000394302.1_Frame_Shift_Ins_p.A512fs|FES_ENST00000450438.2_Frame_Shift_Ins_p.A525fs|FES_ENST00000444422.2_Frame_Shift_Ins_p.A583fs	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	653	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACGGAGGGGGCCCGCCTGCGG	0.673																																																0																																										SO:0001589	frameshift_variant	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1960dupC	15.37:g.91436559_91436559dupC	ENSP00000331504:p.Ala653fs		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Frame_Shift_Ins	INS	ENST00000328850.3	37	CCDS10365.1																																																																																				0.673	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		C	91436557	-	C	91436556	7	5	56	1	0	1	1	0	0	0	0	0	5822	1203	42	0	2015	0	FES	15	91436556	Frame_Shift_Ins	INS	-	TCGA-A3-3374-01A-01D-0966-08	29181573	91436556	11094836	33	4059											
TUSC5	286753	broad.mit.edu	37	17	1183365	1183365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:1183365C>T	ENST00000333813.3	+	1	409	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	24					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGACCTGCCGGAGATGGA	0.627																																																0													54	59	57					17																	1183365		1974	4151	6125	SO:0001583	missense	286753			AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.70C>T	17.37:g.1183365C>T	ENSP00000329548:p.Pro24Ser		A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154862	0.57259	.	.	ENSG00000184811	ENST00000333813	T	0.70282	-0.47	5.38	5.38	0.77491	.	0.305967	0.31290	U	0.007912	T	0.62307	0.2417	L	0.57536	1.79	0.44927	D	0.997944	P	0.38922	0.651	B	0.28139	0.086	T	0.62751	-0.6788	10	0.12766	T	0.61	-15.8795	17.7493	0.88429	0.0:1.0:0.0:0.0	.	24	Q8IXB3	TUSC5_HUMAN	S	24	ENSP00000329548:P24S	ENSP00000329548:P24S	P	+	1	0	TUSC5	1130115	0.953000	0.32496	0.980000	0.43619	0.602000	0.36980	2.963000	0.49184	2.558000	0.86282	0.537000	0.68136	CCG		0.627	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		T	1183365	C	T	1183365	3	4	56	1	0	0	0	0	1	0	0	0	16784	739	26	2	72	2	TUSC5	17	1183365	Missense_Mutation	SNP	C	TCGA-A3-3374-01A-01D-0966-08		1183365	80011845	34	4060											
MYO19	80179	broad.mit.edu	37	17	34861237	34861237	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:34861237G>T	ENST00000431794.3	-	19	2326	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	602	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCTGCTCCAGTGAGGCCTGC	0.592																																																0													94	86	88					17																	34861237		1568	3582	5150	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1804C>A	17.37:g.34861237G>T	ENSP00000409936:p.Leu602Met		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312029	0.81358	.	.	ENSG00000141140	ENST00000431794	D	0.89810	-2.57	5.53	4.56	0.56223	Myosin head, motor domain (2);	.	.	.	.	D	0.93618	0.7962	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94157	0.7411	9	0.87932	D	0	.	13.1998	0.59761	0.0775:0.0:0.9224:0.0	.	602	Q96H55	MYO19_HUMAN	M	602	ENSP00000409936:L602M	ENSP00000409936:L602M	L	-	1	2	MYO19	31935350	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.742000	0.68646	1.462000	0.47948	0.563000	0.77884	CTG		0.592	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		T	34861237	G	T	34861237	3	4	56	1	0	0	0	0	1	0	0	0	10069	1020	36	4	1140	4	MYO19	17	34861237	Missense_Mutation	SNP	G	TCGA-A3-3374-01A-01D-0966-08	33677872	34861237	46333973	35	4061											
DHX40	79665	broad.mit.edu	37	17	57663568	57663568	+	Silent	SNP	A	A	G	rs2697395		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:57663568A>G	ENST00000251241.4	+	11	1545	c.1398A>G	c.(1396-1398)caA>caG	p.Q466Q	DHX40_ENST00000451169.2_Silent_p.Q418Q|DHX40_ENST00000425628.3_Silent_p.Q389Q	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	466							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.Q466Q(1)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTCTTAAACAACTTTACCAGT	0.323																																																1	Substitution - coding silent(1)	endometrium(1)											57	49	52					17																	57663568		2202	4297	6499	SO:0001819	synonymous_variant	79665			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"DEAH-boxes"	18018	protein-coding gene	gene with protein product		607570	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1398A>G	17.37:g.57663568A>G			B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Silent	SNP	ENST00000251241.4	37	CCDS11617.1																																																																																				0.323	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		G	57663568	A	G	57663568	2	3	56	1	0	0	0	0	0	0	0	1	4514	40	2	3		3	DHX40	17	57663568	Silent	SNP	A	TCGA-A3-3374-01A-01D-0966-08	22802331	57663568	23531642	36	4062											
KIAA0802	23255	broad.mit.edu	37	18	8825455	8825455	+	Missense_Mutation	SNP	C	C	A	rs375774425		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:8825455C>A	ENST00000306329.11	+	13	4904	c.4904C>A	c.(4903-4905)aCg>aAg	p.T1635K	SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K|SOGA2_ENST00000359865.3_Missense_Mutation_p.T1316K																							GGGTCCCGGACGATGGGGACC	0.612																																																0													34	34	34					18																	8825455		2203	4299	6502	SO:0001583	missense	23255																														ENST00000306329.11:c.4904C>A	18.37:g.8825455C>A	ENSP00000305027:p.Thr1635Lys			Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	C	15.46	2.840397	0.51057	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.24	5.24	0.73138	.	0.285078	0.25490	N	0.030303	T	0.49270	0.1547	M	0.62723	1.935	0.41003	D	0.984943	D;D	0.69078	0.988;0.997	P;P	0.61132	0.753;0.884	T	0.52313	-0.8592	10	0.72032	D	0.01	-11.595	14.4332	0.67264	0.0:0.8527:0.1473:0.0	.	1626;1316	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1337;1275;1316;1275;641	ENSP00000429556:T1275K;ENSP00000352927:T1316K;ENSP00000382924:T1275K;ENSP00000303670:T641K	ENSP00000303670:T641K	T	+	2	0	CCDC165	8815455	0.998000	0.40836	0.980000	0.43619	0.951000	0.60555	3.813000	0.55636	2.448000	0.82819	0.655000	0.94253	ACG		0.612	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			A	8825455	C	A	8825455	3	1	56	1	0	0	0	0	1	0	0	0	8196	536	19	4	3997	4	KIAA0802	18	8825455	Missense_Mutation	SNP	C	TCGA-A3-3374-01A-01D-0966-08		8825455	69251793	37	4063											
LILRA1	11024	broad.mit.edu	37	19	55106130	55106130	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:55106130G>A	ENST00000251372.3	+	4	253	c.71G>A	c.(70-72)gGg>gAg	p.G24E	LILRA1_ENST00000453777.1_Splice_Site_p.G24E|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	24					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.G24E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCCTTCCAGGGACCCTCCCC	0.587																																																1	Substitution - Missense(1)	central_nervous_system(1)											55	59	57					19																	55106130		2203	4300	6503	SO:0001630	splice_region_variant	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.71-1G>A	19.37:g.55106130G>A			O75018|Q3MJA6	Splice_Site	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	9.608	1.130539	0.21041	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00527	6.82;6.79	1.58	1.58	0.23477	Immunoglobulin-like fold (1);	0.925333	0.08964	N	0.868253	T	0.00845	0.0028	M	0.64630	1.985	0.22511	N	0.999036	D;P	0.54601	0.967;0.717	P;B	0.52909	0.713;0.32	T	0.54497	-0.8285	9	.	.	.	.	6.6677	0.23050	0.0:0.0:1.0:0.0	.	24;24	O75019-2;O75019	.;LIRA1_HUMAN	E	24	ENSP00000251372:G24E;ENSP00000413715:G24E	.	G	+	2	0	LILRA1	59797942	0.010000	0.17322	0.735000	0.30896	0.025000	0.11179	-0.299000	0.08254	1.198000	0.43158	0.194000	0.17425	GGG		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	Missense_Mutation	A	55106130	G	A	55106130	5	1	56	1	0	0	0	0	0	0	1	0	8786	1246	43	2	81	2	LILRA1	19	55106130	Splice_Site	SNP	G	TCGA-A3-3374-01A-01D-0966-08		55106130	4022853	38	4064											
COL18A1	80781	broad.mit.edu	37	21	46924414	46924422	+	In_Frame_Del	DEL	CCCGGCCCC	CCCGGCCCC	-	rs201180574|rs531174886	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:46924414_46924422delCCCGGCCCC	ENST00000359759.4	+	33	4078_4086	c.4057_4065delCCCGGCCCC	c.(4057-4065)cccggccccdel	p.PGP1362del	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.PGP947del|COL18A1_ENST00000355480.5_In_Frame_Del_p.PGP1127del			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1362	Triple-helical region 9 (COL9).			Missing (in Ref. 1; AAC39658/AAC39659, 2; AAR83296/AAR83297/AAR83298, 4; AAH33715/ AAH63833 and 5; AAA51864). {ECO:0000305}.	angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCAGCCTgcccggcccccccggccccc	0.699																																																0									,	910,1318		167,576,371					,	1.2	0.7		dbSNP_130	6	2129,3271		280,1569,851	no	coding,coding	COL18A1	NM_130445.2,NM_030582.3	,	447,2145,1222	A1A1,A1R,RR		39.4259,40.8438,39.8401	,	,		3039,4589				SO:0001651	inframe_deletion	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4057_4065delCCCGGCCCC	21.37:g.46924423_46924431delCCCGGCCCC	ENSP00000352798:p.Pro1362_Pro1364del		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	In_Frame_Del	DEL	ENST00000359759.4	37																																																																																					0.699	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			-	46924422	CCCGGCCCC	-	46924414	7	5	56	1	0	1	0	1	0	0	0	0	3677	739	26	0	4301	0	COL18A1	21	46924414	In_Frame_Del	DEL	CCCGGCCCC	TCGA-A3-3374-01A-01D-0966-08		46924414	1205481	39	4065											
EIF3L	51386	broad.mit.edu	37	22	38247400	38247400	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:38247400T>C	ENST00000412331.2	+	3	778	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L	EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000406934.1_5'UTR|ANKRD54_ENST00000609454.1_5'Flank|EIF3L_ENST00000381683.6_Silent_p.L66L	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTCTCAGATTTGATTGACCA	0.438																																																0													92	85	87					22																	38247400		2203	4300	6503	SO:0001819	synonymous_variant	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.196T>C	22.37:g.38247400T>C				Silent	SNP	ENST00000412331.2	37	CCDS13960.1																																																																																				0.438	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		C	38247400	T	C	38247400	2	2	56	1	0	0	0	0	0	0	0	1	5024	1838	64	3		3	EIF3L	22	38247400	Silent	SNP	T	TCGA-A3-3374-01A-01D-0966-08		38247400	13057166	40	4066											
PPP1R3F	89801	broad.mit.edu	37	X	49142980	49142980	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:49142980G>T	ENST00000055335.6	+	4	1844	c.1828G>T	c.(1828-1830)Gta>Tta	p.V610L	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.V281L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.V264L|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.V264L|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.V264L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	610					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCGTTCTGTGGTAGCCACGAT	0.617																																																0													34	25	28					X																	49142980		2203	4300	6503	SO:0001583	missense	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1828G>T	X.37:g.49142980G>T	ENSP00000055335:p.Val610Leu		A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	9.177	1.022658	0.19433	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.60548	0.62;0.62;0.18;0.62;0.62	5.15	1.59	0.23543	.	0.761986	0.11643	N	0.543614	T	0.34774	0.0909	N	0.14661	0.345	0.20821	N	0.999848	B;B;B	0.19583	0.037;0.037;0.012	B;B;B	0.18561	0.022;0.022;0.01	T	0.21759	-1.0236	10	0.18276	T	0.48	-0.5973	6.7106	0.23274	0.4118:0.0:0.5882:0.0	.	281;295;610	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	L	264;281;610;264;264	ENSP00000420687:V264L;ENSP00000415548:V281L;ENSP00000055335:V610L;ENSP00000417535:V264L;ENSP00000365359:V264L	ENSP00000055335:V610L	V	+	1	0	PPP1R3F	49029924	0.999000	0.42202	0.660000	0.29694	0.851000	0.48451	0.647000	0.24812	-0.049000	0.13379	0.513000	0.50165	GTA		0.617	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		T	49142980	G	T	49142980	3	4	56	1	0	0	0	0	1	0	0	0	12380	1261	44	4	1842	4	PPP1R3F	23	49142980	Missense_Mutation	SNP	G	TCGA-A3-3374-01A-01D-0966-08		49142980	106127580	41	4067											
SPEN	23013	broad.mit.edu	37	1	16257104	16257104	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr1:16257104T>G	ENST00000375759.3	+	11	4573	c.4369T>G	c.(4369-4371)Tct>Gct	p.S1457A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1457					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S1457A(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCTCTCTTCATCTCGTGAAGA	0.363																																																1	Substitution - Missense(1)	kidney(1)											74	78	76					1																	16257104		2202	4300	6502	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4369T>G	1.37:g.16257104T>G	ENSP00000364912:p.Ser1457Ala		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.548882	0.45383	.	.	ENSG00000065526	ENST00000375759	T	0.23950	1.88	5.27	5.27	0.74061	.	.	.	.	.	T	0.39886	0.1095	L	0.32530	0.975	0.58432	D	0.999994	D	0.64830	0.994	D	0.72625	0.978	T	0.13442	-1.0509	9	0.45353	T	0.12	-17.2612	15.3637	0.74503	0.0:0.0:0.0:1.0	.	1457	Q96T58	MINT_HUMAN	A	1457	ENSP00000364912:S1457A	ENSP00000364912:S1457A	S	+	1	0	SPEN	16129691	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.477000	0.81069	2.216000	0.71823	0.460000	0.39030	TCT		0.363	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		G	16257104	T	G	16257104	3	3	57	1	0	0	0	0	1	0	0	0	15043	1435	50	5	4411	5	SPEN	1	16257104	Missense_Mutation	SNP	T	TCGA-A3-3376-01A-02D-1421-08		16257104	232993517	1	4068											
SDHB	6390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17350478	17350478	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr1:17350478A>G	ENST00000375499.3	-	6	782	c.632T>C	c.(631-633)gTt>gCt	p.V211A		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	211					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)	p.V211A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CTGCATAAGAACTGCAGGCCC	0.502			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"		O	1	Substitution - Missense(1)	kidney(1)											46	46	46					1																	17350478		2203	4300	6503	SO:0001583	missense	6390	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"Mitochondrial respiratory chain complex / Complex II"	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.632T>C	1.37:g.17350478A>G	ENSP00000364649:p.Val211Ala		B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	ENST00000375499.3	37	CCDS176.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208657	0.79240	.	.	ENSG00000117118	ENST00000375499	D	0.96459	-4.02	5.49	5.49	0.81192	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.91640	0.7358	N	0.03281	-0.365	0.80722	D	1	P	0.35684	0.515	P	0.44921	0.464	D	0.90871	0.4746	10	0.22706	T	0.39	-22.0733	14.7068	0.69198	1.0:0.0:0.0:0.0	.	211	P21912	DHSB_HUMAN	A	211	ENSP00000364649:V211A	ENSP00000364649:V211A	V	-	2	0	SDHB	17223065	1.000000	0.71417	0.293000	0.24932	0.976000	0.68499	8.269000	0.89878	2.208000	0.71279	0.482000	0.46254	GTT		0.502	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		G	17350478	A	G	17350478	3	3	57	1	0	0	0	0	1	0	0	0	13971	43	2	3	222	3	SDHB	1	17350478	Missense_Mutation	SNP	A	TCGA-A3-3376-01A-02D-1421-08	1093374	17350478	231900143	2	4069											
EPHA10	284656	broad.mit.edu	37	1	38227126	38227126	+	Silent	SNP	G	G	T			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr1:38227126G>T	ENST00000373048.4	-	3	800	c.801C>A	c.(799-801)ggC>ggA	p.G267G	EPHA10_ENST00000427468.2_Silent_p.G267G|EPHA10_ENST00000319637.6_Silent_p.G267G	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	267					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.G267G(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCTGCAGCGGCCCACAGGCA	0.692																																																1	Substitution - coding silent(1)	kidney(1)											23	26	25					1																	38227126		2166	4211	6377	SO:0001819	synonymous_variant	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.801C>A	1.37:g.38227126G>T			A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	CCDS41305.1																																																																																				0.692	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38227126	G	T	38227126	2	4	57	1	0	0	0	0	0	0	0	1	5168	1190	42	4		4	EPHA10	1	38227126	Silent	SNP	G	TCGA-A3-3376-01A-02D-1421-08	20876648	38227126	211023495	3	4070											
NEGR1	257194	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	72400804	72400804	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr1:72400804G>T	ENST00000357731.5	-	2	606	c.367C>A	c.(367-369)Caa>Aaa	p.Q123K	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.Q121K	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	123	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.Q123K(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGTGTATGTTGAGTCTGAACA	0.378																																																1	Substitution - Missense(1)	kidney(1)											122	110	114					1																	72400804		2203	4300	6503	SO:0001583	missense	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.367C>A	1.37:g.72400804G>T	ENSP00000350364:p.Gln123Lys		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	CCDS661.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702181	0.30232	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.65364	-0.15;-0.15	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057607	0.64402	D	0.000002	T	0.33469	0.0864	N	0.13235	0.315	0.40685	D	0.982344	B;B	0.15719	0.007;0.014	B;B	0.19666	0.026;0.026	T	0.19257	-1.0311	10	0.45353	T	0.12	-6.0013	15.3379	0.74273	0.0:0.1392:0.8608:0.0	.	121;123	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	K	123;121	ENSP00000350364:Q123K;ENSP00000413294:Q121K	ENSP00000350364:Q123K	Q	-	1	0	NEGR1	72173392	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	4.241000	0.58707	2.699000	0.92147	0.655000	0.94253	CAA		0.378	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		T	72400804	G	T	72400804	3	4	57	1	0	0	0	0	1	0	0	0	10319	1299	45	4	721	4	NEGR1	1	72400804	Missense_Mutation	SNP	G	TCGA-A3-3376-01A-02D-1421-08	34173678	72400804	176849817	4	4071											
HIAT1	64645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100546150	100546150	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr1:100546150A>C	ENST00000370152.3	+	11	1337	c.1201A>C	c.(1201-1203)Aaa>Caa	p.K401Q	SASS6_ENST00000462159.1_5'Flank|RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	401					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.K401Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TGTGGAACTTAAAGAACTGCC	0.413																																																1	Substitution - Missense(1)	kidney(1)											167	163	165					1																	100546150		2203	4300	6503	SO:0001583	missense	64645			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.1201A>C	1.37:g.100546150A>C	ENSP00000359171:p.Lys401Gln		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	CCDS763.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.662332	0.47572	.	.	ENSG00000156875	ENST00000370152	T	0.80123	-1.34	5.54	5.54	0.83059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.121832	0.53938	D	0.000052	T	0.44891	0.1315	N	0.03608	-0.345	0.31489	N	0.666234	B	0.16396	0.017	B	0.19148	0.024	T	0.27297	-1.0078	10	0.23302	T	0.38	-26.8999	15.6646	0.77217	1.0:0.0:0.0:0.0	.	401	Q96MC6	HIAT1_HUMAN	Q	401	ENSP00000359171:K401Q	ENSP00000359171:K401Q	K	+	1	0	HIAT1	100318738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.978000	0.56881	2.107000	0.64212	0.533000	0.62120	AAA		0.413	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		C	100546150	A	C	100546150	3	2	57	1	0	0	0	0	1	0	0	0	7099	363	13	5	1243	5	HIAT1	1	100546150	Missense_Mutation	SNP	A	TCGA-A3-3376-01A-02D-1421-08	28145346	100546150	148704471	5	4072											
C1orf162	128346	broad.mit.edu;ucsc.edu	37	1	112019442	112019442	+	Silent	SNP	A	A	C	rs201845325		TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr1:112019442A>C	ENST00000343534.5	+	3	310	c.60A>C	c.(58-60)acA>acC	p.T20T	C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Silent_p.T20T	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	20						integral component of membrane (GO:0016021)		p.T20T(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCTCTCCACAGCAGCCCCAA	0.453																																																1	Substitution - coding silent(1)	kidney(1)											216	183	194					1																	112019442		2203	4300	6503	SO:0001819	synonymous_variant	128346			BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.60A>C	1.37:g.112019442A>C			Q5QNZ1	Silent	SNP	ENST00000343534.5	37	CCDS837.1																																																																																				0.453	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		C	112019442	A	C	112019442	2	2	57	1	0	0	0	0	0	0	0	1	2012	175	7	5		5	C1orf162	1	112019442	Silent	SNP	A	TCGA-A3-3376-01A-02D-1421-08	11473292	112019442	137231179	6	4073											
TATDN3	128387	hgsc.bcm.edu;ucsc.edu	37	1	212981154	212981154	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr1:212981154delC	ENST00000366974.4	+	8	658	c.564delC	c.(562-564)ttcfs	p.F189fs	TATDN3_ENST00000526641.1_Frame_Shift_Del_p.F168fs|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000531963.1_Frame_Shift_Del_p.F189fs|TATDN3_ENST00000532324.1_Frame_Shift_Del_p.F189fs|TATDN3_ENST00000526997.1_Intron|TATDN3_ENST00000366973.4_Frame_Shift_Del_p.F189fs	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	189					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CTGGGTACTTCTTCTCAATTC	0.373																																																0													132	129	130					1																	212981154		2203	4300	6503	SO:0001589	frameshift_variant	128387			AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.564delC	1.37:g.212981154delC	ENSP00000355941:p.Phe189fs		A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Frame_Shift_Del	DEL	ENST00000366974.4	37	CCDS31019.1																																																																																				0.373	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		-	212981154	C	-	212981154	7	5	57	1	0	1	0	1	0	0	0	0	15598	912	32	0	594	0	TATDN3	1	212981154	Frame_Shift_Del	DEL	C	TCGA-A3-3376-01A-02D-1421-08	100961712	212981154	36269467	7	4074											
RAPGEF4	11069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	173879257	173879257	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr2:173879257G>A	ENST00000397081.3	+	18	1867	c.1724G>A	c.(1723-1725)aGg>aAg	p.R575K	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R404K|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R431K|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R422K|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.R574K|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R575K|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R355K|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R422K	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	575	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R575K(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AACAATAAGAGGCGAGTCATC	0.522																																																1	Substitution - Missense(1)	kidney(1)											92	94	94					2																	173879257		2043	4195	6238	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1724G>A	2.37:g.173879257G>A	ENSP00000380271:p.Arg575Lys		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249202	0.80024	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	6.17	5.3	0.74995	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.042480	0.85682	N	0.000000	T	0.32071	0.0817	L	0.34521	1.04	0.80722	D	1	B;P	0.37500	0.053;0.597	B;P	0.44647	0.111;0.456	T	0.03910	-1.0993	10	0.24483	T	0.36	.	15.8853	0.79244	0.0647:0.0:0.9353:0.0	.	431;575	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	K	574;575;575;431;404;422;422;355	ENSP00000264111:R574K;ENSP00000380271:R575K;ENSP00000387104:R575K;ENSP00000380276:R431K;ENSP00000440135:R404K;ENSP00000440250:R422K;ENSP00000437384:R422K;ENSP00000438011:R355K	ENSP00000264111:R574K	R	+	2	0	RAPGEF4	173587503	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	6.223000	0.72257	1.627000	0.50400	0.655000	0.94253	AGG		0.522	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		A	173879257	G	A	173879257	3	1	57	1	0	0	0	0	1	0	0	0	13052	1000	35	2	1810	2	RAPGEF4	2	173879257	Missense_Mutation	SNP	G	TCGA-A3-3376-01A-02D-1421-08		173879257	69320116	8	4075											
VHL	7428	broad.mit.edu	37	3	10183872	10183872	+	Splice_Site	SNP	G	G	C			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr3:10183872G>C	ENST00000256474.2	+	1	1180		c.e1+1		snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(15)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGCTACCGAGGTACGGGCCCG	0.701		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	15	Unknown(15)	kidney(15)	GRCh37	CS044968|CS982396	VHL	S							10	11	10					3																	10183872		1852	3825	5677	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.340+1G>C	3.37:g.10183872G>C			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244638	0.79912	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0436	0.80701	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10158872	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.276000	0.58933	2.377000	0.81083	0.479000	0.44913	.		0.701	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	C	10183872	G	C	10183872	5	2	57	1	0	0	0	0	0	0	1	0	17167	1275	44	4	343	4	VHL	3	10183872	Splice_Site	SNP	G	TCGA-A3-3376-01A-02D-1421-08		10183872	187838558	9	4076											
LEPREL1	55214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	189689771	189689771	+	Silent	SNP	G	G	T			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr3:189689771G>T	ENST00000319332.5	-	12	1922	c.1725C>A	c.(1723-1725)ctC>ctA	p.L575L	LEPREL1_ENST00000427335.2_Silent_p.L394L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	575	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.L575L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGATGACTGAGGTCATTTC	0.463																																																1	Substitution - coding silent(1)	kidney(1)											77	65	69					3																	189689771		2203	4300	6503	SO:0001819	synonymous_variant	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1725C>A	3.37:g.189689771G>T			B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Silent	SNP	ENST00000319332.5	37	CCDS3294.1																																																																																				0.463	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		T	189689771	G	T	189689771	2	4	57	1	0	0	0	0	0	0	0	1	8732	1277	45	4		4	LEPREL1	3	189689771	Silent	SNP	G	TCGA-A3-3376-01A-02D-1421-08	179505899	189689771	8332659	10	4077											
PIK3R1	5295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	67590479	67590479	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr5:67590479G>T	ENST00000521381.1	+	12	2157	c.1541G>T	c.(1540-1542)cGt>cTt	p.R514L	PIK3R1_ENST00000320694.8_Missense_Mutation_p.R214L|PIK3R1_ENST00000274335.5_Missense_Mutation_p.R514L|PIK3R1_ENST00000336483.5_Missense_Mutation_p.R244L|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R151L|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R514L|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R514L	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	514					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R214L(1)|p.R514L(1)|p.0?(1)|p.?(1)|p.R244L(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAGTTTAAACGTGAAGGCAAT	0.358			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	5	Substitution - Missense(3)|Whole gene deletion(1)|Unknown(1)	kidney(3)|large_intestine(1)|lung(1)											69	72	71					5																	67590479		2203	4300	6503	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1541G>T	5.37:g.67590479G>T	ENSP00000428056:p.Arg514Leu		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992955	0.93167	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;D;T;D	0.82344	-0.51;-0.51;-0.39;-0.51;-1.51;-1.52;0.16;-1.6	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	M	0.81239	2.535	0.80722	D	1	B;B;B;D	0.67145	0.006;0.004;0.004;0.996	B;B;B;P	0.62885	0.004;0.009;0.021;0.908	D	0.91422	0.5159	10	0.66056	D	0.02	-11.8187	19.2559	0.93945	0.0:0.0:1.0:0.0	.	184;244;214;514	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	L	514;514;514;514;214;244;187;151	ENSP00000428056:R514L;ENSP00000429277:R514L;ENSP00000379855:R514L;ENSP00000274335:R514L;ENSP00000323512:R214L;ENSP00000338554:R244L;ENSP00000429156:R187L;ENSP00000430098:R151L	ENSP00000274335:R514L	R	+	2	0	PIK3R1	67626235	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.728000	0.84847	2.861000	0.98227	0.650000	0.86243	CGT		0.358	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		T	67590479	G	T	67590479	3	4	57	1	0	0	0	0	1	0	0	0	11920	1145	40	4	1713	4	PIK3R1	5	67590479	Missense_Mutation	SNP	G	TCGA-A3-3376-01A-02D-1421-08		67590479	113324781	11	4078											
AP3B1	8546	hgsc.bcm.edu	37	5	77396836	77396838	+	In_Frame_Del	DEL	TTC	TTC	-	rs199702315	byFrequency	TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr5:77396836_77396838delTTC	ENST00000255194.6	-	21	2584_2586	c.2409_2411delGAA	c.(2407-2412)aagaaa>aaa	p.803_804KK>K	AP3B1_ENST00000519295.1_In_Frame_Del_p.754_755KK>K	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	803				Missing (in Ref. 1; AAD03778). {ECO:0000305}.	anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTGCTTTGTTTTCTTTTCTTTCT	0.266									Hermansky-Pudlak syndrome					32	0.00638978	0.0	0.0115	5008	,	,		16595	0.0		0.0219	False		,,,				2504	0.002															0										16,4220		0,16,2102						4.3	0.1			46	161,8049		4,153,3948	no	coding	AP3B1	NM_003664.3		4,169,6050	A1A1,A1R,RR		1.961,0.3777,1.4221				177,12269				SO:0001651	inframe_deletion	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2409_2411delGAA	5.37:g.77396836_77396838delTTC	ENSP00000255194:p.Lys804del		E5RJ68|O00580|Q7Z393|Q9HD66	In_Frame_Del	DEL	ENST00000255194.6	37	CCDS4041.1																																																																																				0.266	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			-	77396838	TTC	-	77396836	7	5	57	1	0	1	0	1	0	0	0	0	744	1841	64	0	901	0	AP3B1	5	77396836	In_Frame_Del	DEL	TTC	TCGA-A3-3376-01A-02D-1421-08	9806357	77396836	103518424	12	4079											
BAT2	7916	broad.mit.edu;hgsc.bcm.edu	37	6	31595623	31595623	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr6:31595623T>C	ENST00000376033.2	+	12	1606	c.1372T>C	c.(1372-1374)Tct>Cct	p.S458P	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S458P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	458	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S458P(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCAGTCGTCATCTGAGATTTC	0.627																																																1	Substitution - Missense(1)	kidney(1)											61	72	68					6																	31595623		1510	2708	4218	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1372T>C	6.37:g.31595623T>C	ENSP00000365201:p.Ser458Pro		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.516414	0.27123	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.04049	3.72;3.72	4.38	4.38	0.52667	.	0.000000	0.47093	D	0.000257	T	0.08891	0.0220	M	0.62723	1.935	0.41971	D	0.99075	D	0.65815	0.995	P	0.59115	0.852	T	0.01549	-1.1327	10	0.87932	D	0	-14.9121	12.9926	0.58627	0.0:0.0:0.0:1.0	.	458	P48634	PRC2A_HUMAN	P	458;447;458;458	ENSP00000365175:S458P;ENSP00000365201:S458P	ENSP00000365175:S458P	S	+	1	0	PRRC2A	31703602	0.993000	0.37304	0.978000	0.43139	0.922000	0.55478	2.527000	0.45615	1.985000	0.57927	0.459000	0.35465	TCT		0.627	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		C	31595623	T	C	31595623	3	2	57	1	0	0	0	0	1	0	0	0	1319	1435	50	3	1414	3	BAT2	6	31595623	Missense_Mutation	SNP	T	TCGA-A3-3376-01A-02D-1421-08		31595623	139519444	13	4080											
DOPEY1	23033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	83823121	83823121	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr6:83823121T>C	ENST00000349129.2	+	7	1021	c.761T>C	c.(760-762)tTt>tCt	p.F254S	DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.F254S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.F254S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	254					protein transport (GO:0015031)			p.F254S(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTCTTCTGTTTTCCATTCCAC	0.363																																																1	Substitution - Missense(1)	kidney(1)											156	135	142					6																	83823121		2203	4300	6503	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.761T>C	6.37:g.83823121T>C	ENSP00000195654:p.Phe254Ser		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134552	0.77662	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.27104	1.7;1.7;1.69	5.81	5.81	0.92471	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.89904	3.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.60652	-0.7221	10	0.49607	T	0.09	.	16.1592	0.81686	0.0:0.0:0.0:1.0	.	254;254	B2RWN9;Q5JWR5	.;DOP1_HUMAN	S	254	ENSP00000195654:F254S;ENSP00000237163:F254S;ENSP00000358754:F254S	ENSP00000237163:F254S	F	+	2	0	DOPEY1	83879840	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.913000	0.87471	2.210000	0.71456	0.533000	0.62120	TTT		0.363	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		C	83823121	T	C	83823121	3	2	57	1	0	0	0	0	1	0	0	0	4709	1841	64	3	779	3	DOPEY1	6	83823121	Missense_Mutation	SNP	T	TCGA-A3-3376-01A-02D-1421-08	52227498	83823121	87291946	14	4081											
EPHA7	2045	broad.mit.edu;hgsc.bcm.edu	37	6	93969181	93969181	+	Silent	SNP	G	G	C			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr6:93969181G>C	ENST00000369303.4	-	10	1999	c.1815C>G	c.(1813-1815)acC>acG	p.T605T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	605					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.T605T(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGTAGGTTTTGGTGCCTGGAA	0.428																																																1	Substitution - coding silent(1)	kidney(1)											191	175	180					6																	93969181		2203	4300	6503	SO:0001819	synonymous_variant	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1815C>G	6.37:g.93969181G>C			A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	CCDS5031.1																																																																																				0.428	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			C	93969181	G	C	93969181	2	2	57	1	0	0	0	0	0	0	0	1	5174	1335	47	4		4	EPHA7	6	93969181	Silent	SNP	G	TCGA-A3-3376-01A-02D-1421-08	10146060	93969181	77145886	15	4082											
QRSL1	55278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	107088233	107088233	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr6:107088233G>A	ENST00000369046.4	+	2	138	c.34G>A	c.(34-36)Gca>Aca	p.A12T	QRSL1_ENST00000369044.1_Missense_Mutation_p.A12T|QRSL1_ENST00000467262.1_3'UTR	NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1									p.A12T(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		GGTTTCTGCGGCACTGAAACA	0.408																																					NSCLC(192;2127 2142 11668 26277 49545)											1	Substitution - Missense(1)	kidney(1)											85	85	85					6																	107088233		2203	4300	6503	SO:0001583	missense	55278			AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"glutamyl-tRNA(Gln) amidotransferase, subunit A"					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.34G>A	6.37:g.107088233G>A	ENSP00000358042:p.Ala12Thr			Missense_Mutation	SNP	ENST00000369046.4	37	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806265	0.50421	.	.	ENSG00000130348	ENST00000369046;ENST00000369044	T;T	0.65732	1.43;-0.17	5.64	5.64	0.86602	.	0.049118	0.85682	D	0.000000	T	0.51719	0.1691	M	0.69248	2.105	0.80722	D	1	B;P	0.40660	0.023;0.726	B;B	0.40565	0.04;0.333	T	0.53528	-0.8426	10	0.15066	T	0.55	-17.6516	19.6932	0.96010	0.0:0.0:1.0:0.0	.	12;12	Q9H0R6;Q9H0R6-2	GATA_HUMAN;.	T	12	ENSP00000358042:A12T;ENSP00000358040:A12T	ENSP00000358040:A12T	A	+	1	0	QRSL1	107194926	1.000000	0.71417	0.422000	0.26621	0.975000	0.68041	9.304000	0.96190	2.660000	0.90430	0.650000	0.86243	GCA		0.408	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292		A	107088233	G	A	107088233	3	1	57	1	0	0	0	0	1	0	0	0	12887	1203	42	2	40	2	QRSL1	6	107088233	Missense_Mutation	SNP	G	TCGA-A3-3376-01A-02D-1421-08	13119052	107088233	64026834	16	4083											
TNRC18	84629	broad.mit.edu	37	7	5347894	5347894	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr7:5347894A>G	ENST00000430969.1	-	30	9098	c.8750T>C	c.(8749-8751)gTg>gCg	p.V2917A	TNRC18_ENST00000399537.4_Missense_Mutation_p.V2917A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2917	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						chromatin binding (GO:0003682)	p.V2917A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTGTGCGACACCGTCTGCAC	0.627																																																2	Substitution - Missense(2)	kidney(2)											39	42	41					7																	5347894		2120	4225	6345	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8750T>C	7.37:g.5347894A>G	ENSP00000395538:p.Val2917Ala		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	a	16.15	3.041908	0.55003	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	D;D	0.88277	-2.36;-2.36	4.65	4.65	0.58169	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.88005	0.6321	N	0.17631	0.505	0.36377	D	0.861657	D	0.56968	0.978	P	0.57911	0.829	D	0.91649	0.5333	9	0.87932	D	0	.	13.7161	0.62697	1.0:0.0:0.0:0.0	.	2917	O15417	TNC18_HUMAN	A	2917	ENSP00000382452:V2917A;ENSP00000395538:V2917A	ENSP00000382452:V2917A	V	-	2	0	TNRC18	5314420	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	8.686000	0.91250	1.705000	0.51264	0.454000	0.30748	GTG		0.627	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	5347894	A	G	5347894	3	3	57	1	0	0	0	0	1	0	0	0	16344	159	6	3	160	3	TNRC18	7	5347894	Missense_Mutation	SNP	A	TCGA-A3-3376-01A-02D-1421-08		5347894	153790769	17	4084											
ANKIB1	54467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92027912	92027912	+	Silent	SNP	C	C	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr7:92027912C>A	ENST00000265742.3	+	20	3295	c.2919C>A	c.(2917-2919)atC>atA	p.I973I		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	973							zinc ion binding (GO:0008270)	p.I973I(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGGCAACATCATGGCTTGGT	0.488																																																1	Substitution - coding silent(1)	kidney(1)											136	132	134					7																	92027912		2026	4185	6211	SO:0001819	synonymous_variant	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2919C>A	7.37:g.92027912C>A			Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	37	CCDS47639.1																																																																																				0.488	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			A	92027912	C	A	92027912	2	1	57	1	0	0	0	0	0	0	0	1	630	816	29	4		4	ANKIB1	7	92027912	Silent	SNP	C	TCGA-A3-3376-01A-02D-1421-08	86680018	92027912	67110751	18	4085											
LMTK2	22853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	97822827	97822827	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr7:97822827C>G	ENST00000297293.5	+	11	3343	c.3050C>G	c.(3049-3051)aCt>aGt	p.T1017S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1017					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.T1017S(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGATCTCACACTCCCCAGAAA	0.597																																																2	Substitution - Missense(2)	kidney(2)											88	96	93					7																	97822827		2203	4300	6503	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3050C>G	7.37:g.97822827C>G	ENSP00000297293:p.Thr1017Ser		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.188027	0.00305	.	.	ENSG00000164715	ENST00000297293	T	0.74315	-0.83	5.27	2.12	0.27331	.	0.707592	0.15183	N	0.276018	T	0.49304	0.1549	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35674	-0.9779	10	0.02654	T	1	.	4.5894	0.12299	0.1232:0.3909:0.3975:0.0884	.	1017	Q8IWU2	LMTK2_HUMAN	S	1017	ENSP00000297293:T1017S	ENSP00000297293:T1017S	T	+	2	0	LMTK2	97660763	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	1.019000	0.30014	0.694000	0.31654	0.650000	0.86243	ACT		0.597	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		G	97822827	C	G	97822827	3	3	57	1	0	0	0	0	1	0	0	0	8861	565	20	4	3092	4	LMTK2	7	97822827	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08	5794915	97822827	61315836	19	4086											
MLL5	55904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	104749515	104749515	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr7:104749515T>C	ENST00000311117.3	+	23	4140	c.3595T>C	c.(3595-3597)Tgt>Cgt	p.C1199R	KMT2E_ENST00000334914.7_Missense_Mutation_p.C254R|SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000334877.4_Missense_Mutation_p.C1199R|KMT2E_ENST00000257745.4_Missense_Mutation_p.C1199R	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1199					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.C1199R(1)									TGGTGATGGCTGTGCCAGCAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											111	95	101					7																	104749515		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3595T>C	7.37:g.104749515T>C	ENSP00000312379:p.Cys1199Arg		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.060|7.060	0.566128|0.566128	0.13560|0.13560	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914|ENST00000473063	D;D;D;T|.	0.91295|.	-2.82;-2.45;-2.82;0.92|.	5.65|5.65	1.6|1.6	0.23607|0.23607	.|.	0.189305|.	0.38326|.	N|.	0.001734|.	T|T	0.24314|0.24314	0.0589|0.0589	N|N	0.24115|0.24115	0.695|0.695	0.24838|0.24838	N|N	0.992484|0.992484	B|.	0.17465|.	0.022|.	B|.	0.17979|.	0.02|.	T|T	0.24404|0.24404	-1.0161|-1.0161	10|5	0.41790|.	T|.	0.15|.	.|.	7.3226|7.3226	0.26536|0.26536	0.1366:0.0:0.2851:0.5783|0.1366:0.0:0.2851:0.5783	.|.	1199|.	Q8IZD2|.	MLL5_HUMAN|.	R|P	1199;1199;1199;1119;1199;254|10	ENSP00000312379:C1199R;ENSP00000335599:C1199R;ENSP00000257745:C1199R;ENSP00000333986:C254R|.	ENSP00000257745:C1199R|.	C|L	+|+	1|2	0|0	MLL5|MLL5	104536751|104536751	0.985000|0.985000	0.35326|0.35326	0.119000|0.119000	0.21687|0.21687	0.568000|0.568000	0.35870|0.35870	2.887000|2.887000	0.48586|0.48586	0.371000|0.371000	0.24564|0.24564	0.383000|0.383000	0.25322|0.25322	TGT|CTG		0.468	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			C	104749515	T	C	104749515	3	2	57	1	0	0	0	0	1	0	0	0	9626	1580	55	3	3677	3	MLL5	7	104749515	Missense_Mutation	SNP	T	TCGA-A3-3376-01A-02D-1421-08	6926688	104749515	54389148	20	4087											
MLL3	58508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151873357	151873357	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr7:151873357G>T	ENST00000262189.6	-	38	9399	c.9181C>A	c.(9181-9183)Caa>Aaa	p.Q3061K	KMT2C_ENST00000355193.2_Missense_Mutation_p.Q3061K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3061	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q3061K(2)									TGCCTTTCTTGATCCAAAAGA	0.448																																																2	Substitution - Missense(2)	kidney(2)											152	144	147					7																	151873357		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9181C>A	7.37:g.151873357G>T	ENSP00000262189:p.Gln3061Lys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.84|18.84	3.709514|3.709514	0.68730|0.68730	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.84944|.	-1.91;-1.92|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.42548|.	D|.	0.000700|.	T|.	0.77212|.	0.4097|.	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.997;0.998;0.998|.	D;D;D|.	0.78314|.	0.98;0.991;0.991|.	T|.	0.74160|.	-0.3755|.	10|.	0.62326|.	D|.	0.03|.	.|.	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3061;2122;3061|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	K|X	3061|566	ENSP00000262189:Q3061K;ENSP00000347325:Q3061K|.	ENSP00000262189:Q3061K|.	Q|S	-|-	1|2	0|0	MLL3|MLL3	151504290|151504290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151873357	G	T	151873357	3	4	57	1	0	0	0	0	1	0	0	0	9624	1299	45	4	5642	4	MLL3	7	151873357	Missense_Mutation	SNP	G	TCGA-A3-3376-01A-02D-1421-08	47123842	151873357	7265306	21	4088											
LSM1	27257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38029515	38029515	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr8:38029515A>G	ENST00000311351.4	-	2	478	c.83T>C	c.(82-84)cTt>cCt	p.L28P	LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_Missense_Mutation_p.L28P	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	28					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.L28P(1)		kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					AAAGCCTATAAGTGTCCTTCC	0.343											OREG0018720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											98	103	101					8																	38029515		2203	4300	6503	SO:0001583	missense	27257			AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.83T>C	8.37:g.38029515A>G	ENSP00000310596:p.Leu28Pro	875	B2R5E6	Missense_Mutation	SNP	ENST00000311351.4	37	CCDS6103.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575747	0.86645	.	.	ENSG00000175324	ENST00000311351;ENST00000520755	T;T	0.53423	0.62;0.62	5.93	5.93	0.95920	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.123185	0.53938	D	0.000047	T	0.79329	0.4427	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86356	0.1714	10	0.87932	D	0	-13.8514	15.3562	0.74428	1.0:0.0:0.0:0.0	.	28	O15116	LSM1_HUMAN	P	28	ENSP00000310596:L28P;ENSP00000430021:L28P	ENSP00000310596:L28P	L	-	2	0	LSM1	38148672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.661000	0.91125	2.273000	0.75805	0.482000	0.46254	CTT		0.343	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1	NM_014462		G	38029515	A	G	38029515	3	3	57	1	0	0	0	0	1	0	0	0	9052	72	3	3	330	3	LSM1	8	38029515	Missense_Mutation	SNP	A	TCGA-A3-3376-01A-02D-1421-08		38029515	108334507	22	4089											
E2F5	1875	broad.mit.edu	37	8	86119690	86119690	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr8:86119690C>A	ENST00000416274.2	+	5	615	c.581C>A	c.(580-582)tCt>tAt	p.S194Y	E2F5_ENST00000256117.5_Missense_Mutation_p.S195Y|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Missense_Mutation_p.S21Y|E2F5_ENST00000418930.2_Missense_Mutation_p.S194Y|E2F5_ENST00000517476.1_Missense_Mutation_p.S33Y	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	194	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S194Y(1)		NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						CAGGCACCTTCTGGTACACAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											48	47	48					8																	86119690		1807	4067	5874	SO:0001583	missense	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.581C>A	8.37:g.86119690C>A	ENSP00000398124:p.Ser194Tyr		E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703645	0.68501	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.79	5.79	0.91817	.	0.113314	0.64402	D	0.000009	D	0.90854	0.7127	M	0.69248	2.105	0.45594	D	0.998537	D;P;P	0.63880	0.993;0.948;0.913	D;P;P	0.63113	0.911;0.673;0.474	D	0.87098	0.2177	10	0.10111	T	0.7	-7.6587	16.5119	0.84288	0.0:0.8607:0.1393:0.0	.	21;194;194	E5RHD4;Q15329-2;Q15329	.;.;E2F5_HUMAN	Y	194;195;194;33;21;30	ENSP00000414312:S194Y;ENSP00000256117:S195Y;ENSP00000398124:S194Y;ENSP00000429120:S33Y;ENSP00000428606:S21Y;ENSP00000429669:S30Y	ENSP00000256117:S195Y	S	+	2	0	E2F5	86306942	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.527000	0.45615	2.741000	0.93983	0.585000	0.79938	TCT		0.353	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		A	86119690	C	A	86119690	3	1	57	1	0	0	0	0	1	0	0	0	4872	913	32	4	599	4	E2F5	8	86119690	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08	48090175	86119690	60244332	23	4090											
KLF10	7071	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	103663602	103663602	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr8:103663602C>T	ENST00000285407.6	-	3	1258	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	KLF10_ENST00000395884.3_Missense_Mutation_p.V309M	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	320					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V320M(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGGGGTACCACAAACATGACA	0.602																																					Esophageal Squamous(16;495 519 2144 16528 44005)											1	Substitution - Missense(1)	kidney(1)											93	97	96					8																	103663602		2203	4300	6503	SO:0001583	missense	7071			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.958G>A	8.37:g.103663602C>T	ENSP00000285407:p.Val320Met		A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732655	0.89482	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.15603	2.41;2.47	5.5	5.5	0.81552	.	0.076118	0.53938	D	0.000044	T	0.39145	0.1067	M	0.63843	1.955	0.80722	D	1	D;D	0.65815	0.995;0.966	P;P	0.61397	0.888;0.618	T	0.03268	-1.1054	10	0.51188	T	0.08	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	320;309	Q13118;O75411	KLF10_HUMAN;.	M	320;309	ENSP00000285407:V320M;ENSP00000379222:V309M	ENSP00000285407:V320M	V	-	1	0	KLF10	103732778	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	4.884000	0.63135	2.735000	0.93741	0.655000	0.94253	GTG		0.602	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			T	103663602	C	T	103663602	3	4	57	1	0	0	0	0	1	0	0	0	8340	478	17	2	492	2	KLF10	8	103663602	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08	17543912	103663602	42700420	24	4091											
DOCK8	81704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	406989	406989	+	Silent	SNP	T	T	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr9:406989T>A	ENST00000453981.1	+	28	3562	c.3450T>A	c.(3448-3450)acT>acA	p.T1150T	DOCK8_ENST00000382329.1_Silent_p.T617T|DOCK8_ENST00000432829.2_Silent_p.T1082T|DOCK8_ENST00000469391.1_Silent_p.T1050T			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1150					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.T1150T(1)|p.T1082T(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCGATCTGACTTCCGAGTACC	0.527																																																2	Substitution - coding silent(2)	kidney(2)											105	101	102					9																	406989		2203	4300	6503	SO:0001819	synonymous_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3450T>A	9.37:g.406989T>A			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	CCDS6440.2																																																																																				0.527	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		A	406989	T	A	406989	2	1	57	1	0	0	0	0	0	0	0	1	4695	1596	56	5		5	DOCK8	9	406989	Silent	SNP	T	TCGA-A3-3376-01A-02D-1421-08		406989	140806442	25	4092											
ZNF510	22869	broad.mit.edu;ucsc.edu	37	9	99538291	99538291	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr9:99538291C>A	ENST00000375231.1	-	2	711	c.61G>T	c.(61-63)Gca>Tca	p.A21S	ZNF510_ENST00000223428.4_Missense_Mutation_p.A21S			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A21S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CCACCTTCTGCAAGTTGGCCC	0.532																																																1	Substitution - Missense(1)	kidney(1)											168	112	131					9																	99538291		2203	4299	6502	SO:0001583	missense	22869			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.61G>T	9.37:g.99538291C>A	ENSP00000364379:p.Ala21Ser		Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	c	11.31	1.601870	0.28534	.	.	ENSG00000081386	ENST00000375231;ENST00000223428;ENST00000374641	T;T;T	0.06218	3.33;3.33;5.71	3.04	1.11	0.20524	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	P	0.40970	0.734	B	0.31751	0.135	T	0.37314	-0.9711	9	0.08837	T	0.75	.	5.617	0.17436	0.2283:0.5502:0.2215:0.0	.	21	Q9Y2H8	ZN510_HUMAN	S	21	ENSP00000364379:A21S;ENSP00000223428:A21S;ENSP00000363772:A21S	ENSP00000223428:A21S	A	-	1	0	ZNF510	98578112	0.059000	0.20769	0.001000	0.08648	0.015000	0.08874	0.186000	0.16978	0.300000	0.22699	0.561000	0.74099	GCA		0.532	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		A	99538291	C	A	99538291	3	1	57	1	0	0	0	0	1	0	0	0	17959	710	25	4	2010	4	ZNF510	9	99538291	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08	99131302	99538291	41675140	26	4093											
SLC25A25	114789	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130868093	130868093	+	Missense_Mutation	SNP	G	G	A	rs201242773		TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr9:130868093G>A	ENST00000373064.5	+	6	994	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	SLC25A25_ENST00000373066.5_Missense_Mutation_p.R276Q|SLC25A25_ENST00000373068.2_Missense_Mutation_p.R278Q|SLC25A25_ENST00000432073.2_Missense_Mutation_p.R264Q|SLC25A25_ENST00000373069.5_Missense_Mutation_p.R290Q|SLC25A25_ENST00000433501.1_Missense_Mutation_p.R141Q|RP11-395P17.11_ENST00000602939.1_RNA	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	244					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R244Q(1)|p.R264Q(1)|p.R278Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TCACTCTGGCGGGGCAATGGC	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18982	0.0		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	kidney(3)											79	69	73					9																	130868093		2203	4300	6503	SO:0001583	missense	114789			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.731G>A	9.37:g.130868093G>A	ENSP00000362155:p.Arg244Gln		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	CCDS6890.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	34	5.396477	0.96009	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.77	4.86	0.63082	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.954;0.953;0.977;1.0	D	0.91980	0.5594	10	0.72032	D	0.01	-19.1579	15.7548	0.78015	0.0:0.1367:0.8633:0.0	.	244;276;264;278	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	Q	278;290;264;276;244;141	ENSP00000362159:R278Q;ENSP00000362160:R290Q;ENSP00000410053:R264Q;ENSP00000362157:R276Q;ENSP00000362155:R244Q;ENSP00000401672:R141Q	ENSP00000362155:R244Q	R	+	2	0	SLC25A25	129907914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.961000	0.87903	1.402000	0.46780	0.561000	0.74099	CGG		0.592	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		A	130868093	G	A	130868093	3	1	57	1	0	0	0	0	1	0	0	0	14494	1116	39	1	1241	1	SLC25A25	9	130868093	Missense_Mutation	SNP	G	TCGA-A3-3376-01A-02D-1421-08	31329802	130868093	10345338	27	4094											
CCDC3	83643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12940511	12940511	+	Missense_Mutation	SNP	G	G	T	rs150259960		TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr10:12940511G>T	ENST00000378825.3	-	3	844	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	CCDC3_ENST00000378839.1_Missense_Mutation_p.L115M	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	240						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.L240M(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TGGTTCGCCAGCTCCAGGTGG	0.692																																																1	Substitution - Missense(1)	kidney(1)											49	52	51					10																	12940511		2203	4300	6503	SO:0001583	missense	83643			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.718C>A	10.37:g.12940511G>T	ENSP00000368102:p.Leu240Met		Q5VYV8|Q5VYV9	Missense_Mutation	SNP	ENST00000378825.3	37	CCDS7093.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203609	0.58234	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	T	0.17370	2.28	5.42	4.5	0.54988	.	0.401864	0.23088	U	0.052070	T	0.16896	0.0406	L	0.36672	1.1	0.25333	N	0.989015	P	0.42203	0.773	P	0.45071	0.468	T	0.07028	-1.0794	10	0.36615	T	0.2	-4.1071	9.1325	0.36854	0.076:0.2783:0.6457:0.0	.	240	Q9BQI4	CCDC3_HUMAN	M	115;240	ENSP00000368116:L115M	ENSP00000368102:L240M	L	-	1	2	CCDC3	12980517	1.000000	0.71417	0.986000	0.45419	0.942000	0.58702	5.501000	0.66950	1.269000	0.44280	0.561000	0.74099	CTG		0.692	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455		T	12940511	G	T	12940511	3	4	57	1	0	0	0	0	1	0	0	0	2806	962	34	4	98	4	CCDC3	10	12940511	Missense_Mutation	SNP	G	TCGA-A3-3376-01A-02D-1421-08		12940511	122594236	28	4095											
SFXN2	118980	broad.mit.edu;hgsc.bcm.edu	37	10	104489089	104489089	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr10:104489089T>C	ENST00000369893.5	+	5	612	c.445T>C	c.(445-447)Tcc>Ccc	p.S149P		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	149				QMALSYFTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVA AANCVNIPMMRQQELIKGI -> KRRPWWAAGCPLPLWLRL TVSISP (in Ref. 4). {ECO:0000305}.	iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.S149P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GATGGCCCTTTCCTACTTCAC	0.637											OREG0020485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											51	43	46					10																	104489089		2203	4300	6503	SO:0001583	missense	118980			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"Sideroflexins"	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.445T>C	10.37:g.104489089T>C	ENSP00000358909:p.Ser149Pro	1382	Q5JSM6	Missense_Mutation	SNP	ENST00000369893.5	37	CCDS7539.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189692	0.78789	.	.	ENSG00000156398	ENST00000369893	T	0.36878	1.23	5.72	3.25	0.37280	.	0.096018	0.64402	D	0.000001	T	0.48804	0.1520	M	0.70275	2.135	0.50813	D	0.99989	P	0.41265	0.744	P	0.50896	0.653	T	0.51911	-0.8645	10	0.62326	D	0.03	-6.8454	11.6282	0.51158	0.0:0.0:0.5093:0.4907	.	149	Q96NB2	SFXN2_HUMAN	P	149	ENSP00000358909:S149P	ENSP00000358909:S149P	S	+	1	0	SFXN2	104479079	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	4.959000	0.63666	0.990000	0.38787	0.482000	0.46254	TCC		0.637	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050096.2	XM_058359		C	104489089	T	C	104489089	3	2	57	1	0	0	0	0	1	0	0	0	14201	1783	62	3	459	3	SFXN2	10	104489089	Missense_Mutation	SNP	T	TCGA-A3-3376-01A-02D-1421-08	91548578	104489089	31045658	29	4096											
SORCS1	114815	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	108366996	108366996	+	Silent	SNP	A	A	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr10:108366996A>G	ENST00000263054.6	-	23	3100	c.3093T>C	c.(3091-3093)acT>acC	p.T1031T	SORCS1_ENST00000369698.1_Silent_p.T566T|SORCS1_ENST00000344440.6_Silent_p.T1031T|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1031					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T1031T(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGAGTTCAGCAGTGGTGGGTA	0.557																																																2	Substitution - coding silent(2)	kidney(2)											83	79	80					10																	108366996		2203	4300	6503	SO:0001819	synonymous_variant	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3093T>C	10.37:g.108366996A>G			A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	A	9.074	0.997610	0.19043	.	.	ENSG00000108018	ENST00000452214	.	.	.	5.92	-2.95	0.05564	.	.	.	.	.	T	0.36358	0.0964	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37126	-0.9719	4	.	.	.	-10.4163	0.3049	0.00279	0.398:0.1521:0.1918:0.2581	.	.	.	.	P	46	.	.	L	-	2	0	SORCS1	108356986	0.897000	0.30589	0.896000	0.35187	0.770000	0.43624	0.021000	0.13489	-0.089000	0.12484	0.533000	0.62120	CTG		0.557	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		G	108366996	A	G	108366996	2	3	57	1	0	0	0	0	0	0	0	1	14936	175	7	3		3	SORCS1	10	108366996	Silent	SNP	A	TCGA-A3-3376-01A-02D-1421-08	3877907	108366996	27167751	30	4097											
HBE1	3046	broad.mit.edu	37	11	5291073	5291073	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr11:5291073C>A	ENST00000380237.1	-	3	392	c.48G>T	c.(46-48)tgG>tgT	p.W16C	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.W16C|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	16					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.W16C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATCTTGCTCCACAGGCTAG	0.502																																																1	Substitution - Missense(1)	kidney(1)											107	96	100					11																	5291073		2201	4297	6498	SO:0001583	missense	3046			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.48G>T	11.37:g.5291073C>A	ENSP00000369586:p.Trp16Cys		Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990515	0.54041	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.95918	-3.85;-3.85;-3.85	5.81	5.81	0.92471	Globin-like (1);Globin, structural domain (1);	0.226724	0.39759	U	0.001274	D	0.98698	0.9563	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.99466	1.0944	10	0.87932	D	0	-8.1505	18.6422	0.91399	0.0:1.0:0.0:0.0	.	16	P02100	HBE_HUMAN	C	16	ENSP00000369586:W16C;ENSP00000292896:W16C;ENSP00000380104:W16C	ENSP00000292896:W16C	W	-	3	0	HBE1	5247649	0.999000	0.42202	1.000000	0.80357	0.357000	0.29423	3.201000	0.51059	2.756000	0.94617	0.585000	0.79938	TGG		0.502	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		A	5291073	C	A	5291073	3	1	57	1	0	0	0	0	1	0	0	0	6982	856	30	4	407	4	HBE1	11	5291073	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08		5291073	129715443	31	4098											
SLC6A5	9152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	20629130	20629130	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr11:20629130T>C	ENST00000525748.1	+	5	1190	c.917T>C	c.(916-918)cTa>cCa	p.L306P		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	306			L -> V (in HKPX3; compound heterozygote with S-509; impairment of glycine transport when coexpressed with S-509 in vitro). {ECO:0000269|PubMed:16751771}.		glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.L306P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTGTCTGTACTACCCTGGGGC	0.418																																																1	Substitution - Missense(1)	kidney(1)											171	159	163					11																	20629130		2203	4300	6503	SO:0001583	missense	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.917T>C	11.37:g.20629130T>C	ENSP00000434364:p.Leu306Pro		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287097	0.80803	.	.	ENSG00000165970	ENST00000525748	D	0.84146	-1.81	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.94318	0.8174	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95616	0.8676	10	0.87932	D	0	.	15.658	0.77158	0.0:0.0:0.0:1.0	.	306	Q9Y345	SC6A5_HUMAN	P	306	ENSP00000434364:L306P	ENSP00000434364:L306P	L	+	2	0	SLC6A5	20585706	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.040000	0.89188	2.179000	0.69175	0.460000	0.39030	CTA		0.418	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		C	20629130	T	C	20629130	3	2	57	1	0	0	0	0	1	0	0	0	14693	1522	53	3	935	3	SLC6A5	11	20629130	Missense_Mutation	SNP	T	TCGA-A3-3376-01A-02D-1421-08	15338057	20629130	114377386	32	4099											
PTPRJ	5795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	48166241	48166241	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr11:48166241G>A	ENST00000418331.2	+	13	2942	c.2590G>A	c.(2590-2592)Gca>Aca	p.A864T		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	864	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.A864T(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCACCCTTCTGCAGATGTCCT	0.423																																																2	Substitution - Missense(2)	kidney(2)											82	77	79					11																	48166241		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2590G>A	11.37:g.48166241G>A	ENSP00000400010:p.Ala864Thr		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	6.019	0.371846	0.11409	.	.	ENSG00000149177	ENST00000418331	T	0.13196	2.61	5.45	-5.91	0.02269	Fibronectin, type III (2);	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.44390	-0.9331	9	0.15066	T	0.55	.	7.273	0.26268	0.355:0.4356:0.2095:0.0	.	864	Q12913	PTPRJ_HUMAN	T	864	ENSP00000400010:A864T	ENSP00000400010:A864T	A	+	1	0	PTPRJ	48122817	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.339000	0.07832	-1.366000	0.02155	-0.859000	0.03014	GCA		0.423	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			A	48166241	G	A	48166241	3	1	57	1	0	0	0	0	1	0	0	0	12810	1319	46	2	2649	2	PTPRJ	11	48166241	Missense_Mutation	SNP	G	TCGA-A3-3376-01A-02D-1421-08	27537111	48166241	86840275	33	4100											
PPP2R5B	5526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64695788	64695788	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr11:64695788G>A	ENST00000164133.2	+	6	1235	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	205					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.E205K(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ATTTGATAGTGAGGATCCCCG	0.587																																																1	Substitution - Missense(1)	kidney(1)											64	56	59					11																	64695788		2201	4297	6498	SO:0001583	missense	5526			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.613G>A	11.37:g.64695788G>A	ENSP00000164133:p.Glu205Lys		Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072787	0.76415	.	.	ENSG00000068971	ENST00000164133;ENST00000359279;ENST00000527441	.	.	.	3.56	3.56	0.40772	Armadillo-type fold (1);	0.058338	0.64402	D	0.000003	D	0.83436	0.5254	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87072	0.2160	9	0.87932	D	0	-22.757	13.5415	0.61676	0.0:0.0:1.0:0.0	.	205	Q15173	2A5B_HUMAN	K	205;232;205	.	ENSP00000164133:E205K	E	+	1	0	PPP2R5B	64452364	1.000000	0.71417	0.980000	0.43619	0.310000	0.27922	9.137000	0.94496	2.322000	0.78497	0.549000	0.68633	GAG		0.587	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		A	64695788	G	A	64695788	3	1	57	1	0	0	0	0	1	0	0	0	12398	1291	45	2	631	2	PPP2R5B	11	64695788	Missense_Mutation	SNP	G	TCGA-A3-3376-01A-02D-1421-08	16529547	64695788	70310728	34	4101											
DIXDC1	85458	hgsc.bcm.edu	37	11	111865799	111865800	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr11:111865799_111865800insG	ENST00000440460.2	+	16	1788_1789	c.1491_1492insG	c.(1492-1494)ggafs	p.G498fs	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Frame_Shift_Ins_p.G287fs	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	499					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TTCCAACGGCAGGAAAAGGAGC	0.47																																																0																																										SO:0001589	frameshift_variant	85458			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1493dupG	11.37:g.111865801_111865801dupG	ENSP00000394352:p.Gly498fs		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Frame_Shift_Ins	INS	ENST00000440460.2	37																																																																																					0.47	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		G	111865800	-	G	111865799	7	5	57	1	0	1	1	0	0	0	0	0	4543	175	7	0	1578	0	DIXDC1	11	111865799	Frame_Shift_Ins	INS	-	TCGA-A3-3376-01A-02D-1421-08	47170011	111865799	23140717	35	4102											
SOAT2	8435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53512684	53512685	+	Missense_Mutation	DNP	GT	GT	TG			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr12:53512684_53512685GT>TG	ENST00000301466.3	+	9	934_935	c.874_875GT>TG	c.(874-876)GTc>TGc	p.V292C		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	292					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)	p.V292F(1)|p.V292G(1)|p.V292>?(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GACGCCCTATGTCAGGTGGAAT	0.535																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	Exception_encountered	12.37:g.53512684_53512685delinsTG	ENSP00000301466:p.Val292Cys		F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	CCDS8847.1																																																																																				0.535	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			TG	53512685	GT	TG	53512684	3	4	57	1	0	0	0	0	1	0	0	0	14917	1377	48	4	908	4	SOAT2	12	53512684	Missense_Mutation	DNP	GT	TCGA-A3-3376-01A-02D-1421-08		53512684	80339211	36	4103											
CDC16	8881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	115004884	115004884	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr13:115004884T>G	ENST00000356221.3	+	5	408	c.300T>G	c.(298-300)aaT>aaG	p.N100K	CDC16_ENST00000252457.5_Missense_Mutation_p.N99K|CDC16_ENST00000375312.3_Missense_Mutation_p.N6K|CDC16_ENST00000375310.1_Missense_Mutation_p.N6K|CDC16_ENST00000252458.6_Missense_Mutation_p.N6K|CDC16_ENST00000360383.3_Missense_Mutation_p.N100K|CDC16_ENST00000375308.1_Missense_Mutation_p.N6K			Q13042	CDC16_HUMAN	cell division cycle 16	100					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)		p.N99K(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AGCCCATCAATAAAAGATTAT	0.443																																																1	Substitution - Missense(1)	kidney(1)											61	65	64					13																	115004884		2203	4300	6503	SO:0001583	missense	8881			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.300T>G	13.37:g.115004884T>G	ENSP00000348554:p.Asn100Lys		A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	t	11.72	1.723561	0.30593	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T;T	0.39592	1.07;1.07;1.07	5.73	3.1	0.35709	Tetratricopeptide-like helical (1);	0.083787	0.85682	D	0.000000	T	0.24851	0.0603	N	0.19112	0.55	0.42796	D	0.993916	B;B;B;B	0.31054	0.061;0.306;0.226;0.156	B;B;B;B	0.27076	0.045;0.055;0.076;0.016	T	0.03993	-1.0986	9	.	.	.	-20.3028	11.0696	0.47995	0.0:0.7991:0.0:0.2009	.	100;99;99;100	B4DK74;Q13042-3;Q13042-2;Q13042	.;.;.;CDC16_HUMAN	K	100;6;100;6;99;6;6	ENSP00000353549:N100K;ENSP00000348554:N100K;ENSP00000252457:N99K	.	N	+	3	2	CDC16	114022986	1.000000	0.71417	0.991000	0.47740	0.544000	0.35116	1.601000	0.36773	0.364000	0.24374	-0.242000	0.12053	AAT		0.443	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		G	115004884	T	G	115004884	3	3	57	1	0	0	0	0	1	0	0	0	3060	1403	49	5	318	5	CDC16	13	115004884	Missense_Mutation	SNP	T	TCGA-A3-3376-01A-02D-1421-08		115004884	164994	37	4104											
C14orf39	317761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	60928115	60928116	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr14:60928115_60928116CT>TC	ENST00000321731.3	-	13	1232_1233	c.1073_1074AG>GA	c.(1072-1074)cAG>cGA	p.Q358R		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	358					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.Q358R(2)|p.Q358Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTGATTGTTTCTGTGGGGTTAA	0.277																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1073_1074delinsTC	14.37:g.60928115_60928116delinsTC	ENSP00000324920:p.Gln358Arg		Q08AQ4	Silent|Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1																																																																																				0.277	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		TC	60928116	CT	TC	60928115	3	4	57	1	0	0	0	0	1	0	0	0	1774	912	32	2	713	2	C14orf39	14	60928115	Missense_Mutation	DNP	CT	TCGA-A3-3376-01A-02D-1421-08		60928115	46421425	38	4105											
UBR1	197131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43317589	43317589	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr15:43317589G>C	ENST00000290650.4	-	24	2652	c.2574C>G	c.(2572-2574)aaC>aaG	p.N858K	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	858					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N858K(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTTCATCTTTGTTTTCTTGTT	0.294																																																1	Substitution - Missense(1)	kidney(1)											192	162	172					15																	43317589		2196	4297	6493	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2574C>G	15.37:g.43317589G>C	ENSP00000290650:p.Asn858Lys		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127884	0.20959	.	.	ENSG00000159459	ENST00000290650;ENST00000546274	T	0.45276	0.9	4.97	4.02	0.46733	.	0.216529	0.48767	D	0.000178	T	0.18341	0.0440	N	0.11560	0.145	0.80722	D	1	B;B	0.19331	0.035;0.0	B;B	0.17098	0.017;0.001	T	0.11227	-1.0596	10	0.02654	T	1	-8.9371	7.8304	0.29338	0.13:0.0:0.87:0.0	.	858;858	B4DYL2;Q8IWV7	.;UBR1_HUMAN	K	858	ENSP00000290650:N858K	ENSP00000290650:N858K	N	-	3	2	UBR1	41104881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.220000	0.42908	1.119000	0.41883	0.655000	0.94253	AAC		0.294	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		C	43317589	G	C	43317589	3	2	57	1	0	0	0	0	1	0	0	0	16906	1368	48	4	2771	4	UBR1	15	43317589	Missense_Mutation	SNP	G	TCGA-A3-3376-01A-02D-1421-08		43317589	59213803	39	4106											
DENND4A	10260	broad.mit.edu;hgsc.bcm.edu	37	15	65983198	65983198	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr15:65983198C>G	ENST00000431932.2	-	22	3810	c.3602G>C	c.(3601-3603)aGg>aCg	p.R1201T	DENND4A_ENST00000567323.1_5'Flank|DENND4A_ENST00000443035.3_Missense_Mutation_p.R1244T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1201					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1203T(1)|p.R1244T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAAATCACGCCTAGCAGATGG	0.418																																																2	Substitution - Missense(2)	kidney(2)											79	78	78					15																	65983198		1974	4156	6130	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3602G>C	15.37:g.65983198C>G	ENSP00000396830:p.Arg1201Thr		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288981	0.23478	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05580	3.42;3.43	5.37	2.44	0.29823	.	0.459602	0.23325	N	0.049405	T	0.06645	0.0170	L	0.47716	1.5	0.42111	D	0.991389	B;B	0.32573	0.376;0.115	B;B	0.32090	0.14;0.105	T	0.33111	-0.9881	10	0.41790	T	0.15	.	9.5083	0.39060	0.0:0.7154:0.0:0.2846	.	1244;1201	E7EPL3;Q7Z401	.;MYCPP_HUMAN	T	1244;1201	ENSP00000391167:R1244T;ENSP00000396830:R1201T	ENSP00000396830:R1201T	R	-	2	0	DENND4A	63770252	0.543000	0.26434	0.835000	0.33067	0.979000	0.70002	1.687000	0.37680	0.769000	0.33313	0.655000	0.94253	AGG		0.418	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		G	65983198	C	G	65983198	3	3	57	1	0	0	0	0	1	0	0	0	4435	681	24	4	2033	4	DENND4A	15	65983198	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08	22665609	65983198	36548194	40	4107											
CYLD	1540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	50783997	50783997	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr16:50783997C>A	ENST00000427738.3	+	2	593	c.388C>A	c.(388-390)Cct>Act	p.P130T	CYLD_ENST00000398568.2_Missense_Mutation_p.P130T|CYLD_ENST00000568704.2_Missense_Mutation_p.P130T|CYLD_ENST00000311559.9_Missense_Mutation_p.P130T|CYLD_ENST00000540145.1_Missense_Mutation_p.P130T|CYLD_ENST00000569418.1_Missense_Mutation_p.P130T|CYLD_ENST00000564326.1_Missense_Mutation_p.P130T|CYLD_ENST00000566206.1_Missense_Mutation_p.P130T			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	130	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.P130T(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CGTGGGCTGTCCTGTGAAAGT	0.448			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	1	Substitution - Missense(1)	kidney(1)											76	73	74					16																	50783997		1845	4096	5941	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.388C>A	16.37:g.50783997C>A	ENSP00000392025:p.Pro130Thr		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785117	0.31593	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	6.17	3.15	0.36227	Cytoskeleton-associated protein, Gly-rich domain (3);	0.416130	0.29066	N	0.013247	T	0.52354	0.1729	N	0.14661	0.345	0.32723	N	0.509998	B;B;B;B	0.20164	0.042;0.034;0.034;0.042	B;B;B;B	0.25506	0.061;0.036;0.036;0.061	T	0.50783	-0.8787	10	0.13470	T	0.59	-3.2756	7.0451	0.25040	0.0:0.5884:0.27:0.1416	.	130;130;130;130	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	T	130	ENSP00000445447:P130T;ENSP00000308928:P130T;ENSP00000392025:P130T;ENSP00000381574:P130T	ENSP00000308928:P130T	P	+	1	0	CYLD	49341498	0.981000	0.34729	0.976000	0.42696	0.923000	0.55619	2.494000	0.45329	0.914000	0.36822	0.655000	0.94253	CCT		0.448	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			A	50783997	C	A	50783997	3	1	57	1	0	0	0	0	1	0	0	0	4145	855	30	4	390	4	CYLD	16	50783997	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08		50783997	39570756	41	4108											
FAM96B	51647	broad.mit.edu;hgsc.bcm.edu	37	16	66966160	66966160	+	Silent	SNP	C	C	T			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr16:66966160C>T	ENST00000422424.2	-	5	473	c.438G>A	c.(436-438)ctG>ctA	p.L146L	CES2_ENST00000417689.1_5'Flank|CES2_ENST00000317091.4_5'Flank	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B	146					chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)		p.L146L(2)		kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGGTGTTCTCCAGGGCAGCTG	0.582																																																2	Substitution - coding silent(2)	kidney(2)											60	66	64					16																	66966160		1989	4175	6164	SO:0001819	synonymous_variant	51647				CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408	ENST00000422424.2:c.438G>A	16.37:g.66966160C>T				Silent	SNP	ENST00000422424.2	37	CCDS45506.1																																																																																				0.582	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429890.1	NM_016062		T	66966160	C	T	66966160	2	4	57	1	0	0	0	0	0	0	0	1	5657	581	21	2		2	FAM96B	16	66966160	Silent	SNP	C	TCGA-A3-3376-01A-02D-1421-08	16182163	66966160	23388593	42	4109											
NUP85	79902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73204674	73204674	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr17:73204674C>T	ENST00000245544.4	+	2	157	c.86C>T	c.(85-87)cCa>cTa	p.P29L	NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.P29L|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000541827.1_Intron	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	29					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.P29L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GACTGGGGTCCAGGGGAGATG	0.358																																																1	Substitution - Missense(1)	kidney(1)											170	186	180					17																	73204674		2203	4300	6503	SO:0001583	missense	79902			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.86C>T	17.37:g.73204674C>T	ENSP00000245544:p.Pro29Leu		B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831158	0.50845	.	.	ENSG00000125450	ENST00000245544	.	.	.	4.78	4.78	0.61160	.	0.051862	0.85682	D	0.000000	T	0.73799	0.3633	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.71938	-0.4441	9	0.31617	T	0.26	-13.1383	15.9648	0.79961	0.0:1.0:0.0:0.0	.	29	Q9BW27	NUP85_HUMAN	L	29	.	ENSP00000245544:P29L	P	+	2	0	NUP85	70716269	0.991000	0.36638	0.960000	0.40013	0.156000	0.22039	4.012000	0.57131	2.356000	0.79943	0.563000	0.77884	CCA		0.358	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		T	73204674	C	T	73204674	3	4	57	1	0	0	0	0	1	0	0	0	10772	594	21	2	92	2	NUP85	17	73204674	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08		73204674	7990536	43	4110											
KIAA0195	9772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73488654	73488654	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr17:73488654T>A	ENST00000314256.7	+	15	2090	c.1696T>A	c.(1696-1698)Tcc>Acc	p.S566T	KIAA0195_ENST00000579208.1_Missense_Mutation_p.S217T|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S576T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	566						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S566T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGAACCCCTCCTGCATCCA	0.592																																																1	Substitution - Missense(1)	kidney(1)											108	95	100					17																	73488654		2203	4300	6503	SO:0001583	missense	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1696T>A	17.37:g.73488654T>A	ENSP00000313885:p.Ser566Thr		O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618479	0.28801	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.86562	-2.14;-2.14	5.6	4.53	0.55603	.	0.309061	0.37053	N	0.002264	T	0.74801	0.3764	N	0.17379	0.485	0.35851	D	0.82678	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.69331	-0.5173	10	0.22109	T	0.4	-24.5353	8.7153	0.34408	0.0:0.1466:0.0:0.8534	.	576;576;566	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	T	566;576	ENSP00000313885:S566T;ENSP00000364397:S576T	ENSP00000313885:S566T	S	+	1	0	KIAA0195	71000249	0.995000	0.38212	1.000000	0.80357	0.934000	0.57294	2.345000	0.44018	0.964000	0.38108	0.459000	0.35465	TCC		0.592	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		A	73488654	T	A	73488654	3	1	57	1	0	0	0	0	1	0	0	0	8162	1551	54	5	1750	5	KIAA0195	17	73488654	Missense_Mutation	SNP	T	TCGA-A3-3376-01A-02D-1421-08	283980	73488654	7706556	44	4111											
SPIB	6689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50926246	50926246	+	Silent	SNP	C	C	A			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr19:50926246C>A	ENST00000595883.1	+	4	316	c.291C>A	c.(289-291)gcC>gcA	p.A97A	CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.P232T|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000270632.7_Silent_p.A97A|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Silent_p.A97A	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	97					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A97A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCTGGAGGCCCCGGGGCCTG	0.642																																																1	Substitution - coding silent(1)	kidney(1)											29	33	32					19																	50926246		2196	4279	6475	SO:0001819	synonymous_variant	6689				CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.291C>A	19.37:g.50926246C>A			A8K9C9|B4DUG6|Q15359	Silent	SNP	ENST00000595883.1	37	CCDS33080.1																																																																																				0.642	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		A	50926246	C	A	50926246	2	1	57	1	0	0	0	0	0	0	0	1	15055	610	22	4		4	SPIB	19	50926246	Silent	SNP	C	TCGA-A3-3376-01A-02D-1421-08		50926246	8202737	45	4112											
TOX2	84969	broad.mit.edu;hgsc.bcm.edu	37	20	42680130	42680130	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr20:42680130C>T	ENST00000358131.5	+	4	831	c.623C>T	c.(622-624)gCg>gTg	p.A208V	TOX2_ENST00000341197.4_Missense_Mutation_p.A199V|TOX2_ENST00000372999.1_Missense_Mutation_p.A157V|TOX2_ENST00000423191.2_Missense_Mutation_p.A157V|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	208					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A208V(1)|p.A157V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCAAGTCAGCGACCCCCTCT	0.627																																																2	Substitution - Missense(2)	kidney(2)											41	37	38					20																	42680130		2203	4300	6503	SO:0001583	missense	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.623C>T	20.37:g.42680130C>T	ENSP00000350849:p.Ala208Val		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036137	0.75617	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T;T	0.43294	1.94;0.95;1.94;1.94;1.94;2.16	5.67	5.67	0.87782	.	0.163089	0.53938	D	0.000051	T	0.65595	0.2706	M	0.69823	2.125	0.80722	D	1	D;D;P;D;D	0.89917	0.982;1.0;0.807;0.999;1.0	B;D;B;P;D	0.80764	0.383;0.994;0.15;0.881;0.986	T	0.65672	-0.6111	10	0.54805	T	0.06	.	18.758	0.91839	0.0:1.0:0.0:0.0	.	77;199;157;208;157	B4DQV8;G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;.;TOX2_HUMAN;.	V	199;157;157;157;208;77	ENSP00000344724:A199V;ENSP00000396584:A157V;ENSP00000390278:A157V;ENSP00000362090:A157V;ENSP00000350849:A208V;ENSP00000396777:A77V	ENSP00000344724:A199V	A	+	2	0	TOX2	42113544	1.000000	0.71417	0.561000	0.28357	0.014000	0.08584	7.771000	0.85420	2.659000	0.90383	0.655000	0.94253	GCG		0.627	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			T	42680130	C	T	42680130	3	4	57	1	0	0	0	0	1	0	0	0	16383	768	27	1	740	1	TOX2	20	42680130	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08		42680130	20345390	46	4113											
SEMG2	6407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	43850086	43850086	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr20:43850086C>T	ENST00000372769.3	+	1	146	c.56C>T	c.(55-57)gCa>gTa	p.A19V		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	19					sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.A19V(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GAGAAGCAAGCAGCTGTGATG	0.443																																																1	Substitution - Missense(1)	kidney(1)											75	70	72					20																	43850086		2203	4300	6503	SO:0001583	missense	6407				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.56C>T	20.37:g.43850086C>T	ENSP00000361855:p.Ala19Val		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936551	0.52972	.	.	ENSG00000124157	ENST00000372769	T	0.13196	2.61	2.43	0.4	0.16331	.	.	.	.	.	T	0.29914	0.0748	M	0.71036	2.16	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.07829	-1.0752	9	0.87932	D	0	.	5.2866	0.15704	0.0:0.7377:0.0:0.2623	.	19;19	Q6IRW3;Q02383	.;SEMG2_HUMAN	V	19	ENSP00000361855:A19V	ENSP00000361855:A19V	A	+	2	0	SEMG2	43283500	0.000000	0.05858	0.023000	0.16930	0.367000	0.29736	-0.885000	0.04161	0.119000	0.18210	0.462000	0.41574	GCA		0.443	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		T	43850086	C	T	43850086	3	4	57	1	0	0	0	0	1	0	0	0	14051	710	25	2	58	2	SEMG2	20	43850086	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08	1169956	43850086	19175434	47	4114											
STMN3	50861	broad.mit.edu;hgsc.bcm.edu	37	20	62275107	62275107	+	Splice_Site	SNP	G	G	T	rs368408629		TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr20:62275107G>T	ENST00000370053.1	-	3	373		c.e3+1		STMN3_ENST00000540534.1_Splice_Site	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3						cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)	p.?(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			AGGACTCCTTGCCTTCCTCCG	0.657																																																1	Unknown(1)	kidney(1)											30	32	31					20																	62275107		2203	4300	6503	SO:0001630	splice_region_variant	50861			AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.291+1C>A	20.37:g.62275107G>T			B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Splice_Site	SNP	ENST00000370053.1	37	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701941	0.30232	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	4.42	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1854	0.15182	0.8158:0.0:0.1842:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STMN3	61745551	1.000000	0.71417	0.893000	0.35052	0.274000	0.26718	6.182000	0.71995	0.676000	0.31285	0.313000	0.20887	.		0.657	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894	Intron	T	62275107	G	T	62275107	5	4	57	1	0	0	0	0	0	0	1	0	15315	1333	46	4	261	4	STMN3	20	62275107	Splice_Site	SNP	G	TCGA-A3-3376-01A-02D-1421-08	18425021	62275107	750413	48	4115											
DYRK1A	1859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	38845082	38845082	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr21:38845082A>G	ENST00000398960.2	+	2	182	c.107A>G	c.(106-108)cAt>cGt	p.H36R	DYRK1A_ENST00000321219.8_Missense_Mutation_p.H36R|DYRK1A_ENST00000451934.1_Missense_Mutation_p.H36R|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000339659.4_Missense_Mutation_p.H36R|DYRK1A_ENST00000338785.3_Missense_Mutation_p.H36R|DYRK1A_ENST00000398956.2_Missense_Mutation_p.H36R	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	36					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.H36R(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGATGCCCCATTCACATCAG	0.488																																					Melanoma(114;464 1602 31203 43785 45765)											1	Substitution - Missense(1)	kidney(1)											142	125	131					21																	38845082		2203	4300	6503	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.107A>G	21.37:g.38845082A>G	ENSP00000381932:p.His36Arg		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845673	0.91197	.	.	ENSG00000157540	ENST00000338785;ENST00000455097;ENST00000426672;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T;T	0.56103	0.52;0.8;0.48;0.53;0.52;0.48;0.53	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.46157	1.445	0.80722	D	1	D;D;P;D;D	0.53462	0.96;0.96;0.932;0.96;0.96	D;D;P;D;D	0.64237	0.923;0.923;0.84;0.923;0.923	T	0.55315	-0.8160	10	0.07325	T	0.83	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	36;36;36;36;36	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	R	36	ENSP00000342690:H36R;ENSP00000412269:H36R;ENSP00000340373:H36R;ENSP00000319032:H36R;ENSP00000416089:H36R;ENSP00000381932:H36R;ENSP00000381929:H36R	ENSP00000319032:H36R	H	+	2	0	DYRK1A	37766952	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	CAT		0.488	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		G	38845082	A	G	38845082	3	3	57	1	0	0	0	0	1	0	0	0	4856	217	8	3	113	3	DYRK1A	21	38845082	Missense_Mutation	SNP	A	TCGA-A3-3376-01A-02D-1421-08		38845082	9284813	49	4116											
DYRK1A	1859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	38862648	38862648	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr21:38862648C>G	ENST00000398960.2	+	6	911	c.836C>G	c.(835-837)cCa>cGa	p.P279R	DYRK1A_ENST00000321219.8_Missense_Mutation_p.P279R|DYRK1A_ENST00000451934.1_Missense_Mutation_p.P279R|DYRK1A_ENST00000339659.4_Missense_Mutation_p.P270R|DYRK1A_ENST00000338785.3_Missense_Mutation_p.P279R|DYRK1A_ENST00000398956.2_Missense_Mutation_p.P279R|DYRK1A_ENST00000455387.2_Missense_Mutation_p.P51R	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.P279R(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTTGCGACTCCAGAACTTAGT	0.423																																					Melanoma(114;464 1602 31203 43785 45765)											1	Substitution - Missense(1)	kidney(1)											103	94	97					21																	38862648		2203	4300	6503	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.836C>G	21.37:g.38862648C>G	ENSP00000381932:p.Pro279Arg		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931409	0.92389	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048262	0.85682	D	0.000000	T	0.29223	0.0727	N	0.12961	0.28	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.995;0.994;0.998	D;D;D;D;D	0.78314	0.991;0.991;0.957;0.928;0.991	T	0.15235	-1.0444	10	0.87932	D	0	.	20.2989	0.98608	0.0:1.0:0.0:0.0	.	279;279;279;270;279	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	R	279;270;279;279;279;279;51	ENSP00000342690:P279R;ENSP00000340373:P270R;ENSP00000319032:P279R;ENSP00000416089:P279R;ENSP00000381932:P279R;ENSP00000381929:P279R;ENSP00000407854:P51R	ENSP00000319032:P279R	P	+	2	0	DYRK1A	37784518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.794000	0.96219	0.573000	0.79308	CCA		0.423	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		G	38862648	C	G	38862648	3	3	57	1	0	0	0	0	1	0	0	0	4856	594	21	4	858	4	DYRK1A	21	38862648	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08	17566	38862648	9267247	50	4117											
CCT8L2	150160	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	17073177	17073177	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chr22:17073177C>G	ENST00000359963.3	-	1	523	c.264G>C	c.(262-264)tgG>tgC	p.W88C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	88					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.W88C(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCGGAGGAGCCATGCTGCTG	0.617																																																1	Substitution - Missense(1)	kidney(1)											71	58	63					22																	17073177		2203	4300	6503	SO:0001583	missense	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.264G>C	22.37:g.17073177C>G	ENSP00000353048:p.Trp88Cys		A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	0.458	-0.890444	0.02491	.	.	ENSG00000198445	ENST00000359963	T	0.78246	-1.16	2.0	0.943	0.19531	.	1.327020	0.05804	U	0.612755	T	0.57504	0.2058	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.52548	-0.8561	10	0.87932	D	0	-2.029	3.8843	0.09091	0.0:0.7711:0.0:0.2289	.	88	Q96SF2	TCPQM_HUMAN	C	88	ENSP00000353048:W88C	ENSP00000353048:W88C	W	-	3	0	CCT8L2	15453177	0.001000	0.12720	0.028000	0.17463	0.037000	0.13140	-0.034000	0.12225	1.126000	0.42016	0.393000	0.25936	TGG		0.617	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			G	17073177	C	G	17073177	3	3	57	1	0	0	0	0	1	0	0	0	2963	740	26	4	1413	4	CCT8L2	22	17073177	Missense_Mutation	SNP	C	TCGA-A3-3376-01A-02D-1421-08		17073177	34231389	51	4118											
TEX13A	56157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	104464656	104464656	+	Silent	SNP	C	C	T			TCGA-A3-3376-01A-02D-1421-08	TCGA-A3-3376-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	31031387-393f-4bf9-ba87-cfe7330afc13	030e8c64-a55c-4996-9372-ad45846be7c0	g.chrX:104464656C>T	ENST00000413579.1	-	2	537	c.426G>A	c.(424-426)gaG>gaA	p.E142E	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Silent_p.E142E|TEX13A_ENST00000372575.1_Silent_p.E142E|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	142							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTTGTCTCTCTCTTTCTGCA	0.612																																																0													33	33	33					X																	104464656		2128	4196	6324	SO:0001819	synonymous_variant	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.426G>A	X.37:g.104464656C>T			B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37																																																																																					0.612	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		T	104464656	C	T	104464656	2	4	57	1	0	0	0	0	0	0	0	1	15781	912	32	2		2	TEX13A	23	104464656	Silent	SNP	C	TCGA-A3-3376-01A-02D-1421-08		104464656	50805904	52	4119											
FAM40A	85369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110589317	110589317	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:110589317A>C	ENST00000369795.3	+	13	1454	c.1432A>C	c.(1432-1434)Att>Ctt	p.I478L	STRIP1_ENST00000369796.1_Missense_Mutation_p.I383L	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	478					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.I478L(1)									GTACACGTCGATTGCAGAGGT	0.567																																																1	Substitution - Missense(1)	kidney(1)											179	177	177					1																	110589317		2203	4300	6503	SO:0001583	missense	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1432A>C	1.37:g.110589317A>C	ENSP00000358810:p.Ile478Leu		Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870775	0.33069	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.36878	1.24;1.23	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.03608	0.0103	N	0.00793	-1.18	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.20184	0.003;0.028	T	0.40757	-0.9546	10	0.02654	T	1	-16.3023	10.262	0.43431	0.9259:0.0:0.0741:0.0	.	383;478	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	L	383;478	ENSP00000358811:I383L;ENSP00000358810:I478L	ENSP00000358810:I478L	I	+	1	0	FAM40A	110390840	1.000000	0.71417	0.138000	0.22173	0.483000	0.33249	5.334000	0.65923	2.240000	0.73641	0.528000	0.53228	ATT		0.567	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		C	110589317	A	C	110589317	3	2	58	1	0	0	0	0	1	0	0	0	5562	333	12	5	1482	5	FAM40A	1	110589317	Missense_Mutation	SNP	A	TCGA-A3-3385-01A-02D-1421-08		110589317	138661304	1	4120											
SLC6A17	388662	broad.mit.edu;ucsc.edu	37	1	110709707	110709708	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:110709707_110709708delGG	ENST00000331565.4	+	2	641_642	c.156_157delGG	c.(154-159)gaggagfs	p.EE52fs	RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	52					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		AGGCGGTGGAGGAGGAGCTGGA	0.614																																																0																																										SO:0001589	frameshift_variant	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.156_157delGG	1.37:g.110709707_110709708delGG	ENSP00000330199:p.Glu52fs		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Frame_Shift_Del	DEL	ENST00000331565.4	37	CCDS30799.1																																																																																				0.614	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		-	110709708	GG	-	110709707	7	5	58	1	0	1	0	1	0	0	0	0	14686	991	35	0	158	0	SLC6A17	1	110709707	Frame_Shift_Del	DEL	GG	TCGA-A3-3385-01A-02D-1421-08	120390	110709707	138540914	2	4121											
ASH1L	55870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155308160	155308160	+	Silent	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:155308160G>C	ENST00000368346.3	-	27	9177	c.8538C>G	c.(8536-8538)cgC>cgG	p.R2846R	ASH1L_ENST00000392403.3_Silent_p.R2841R			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2846					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R2841R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTGGCTTTGAGCGCTCAGACT	0.498																																																1	Substitution - coding silent(1)	kidney(1)											72	71	72					1																	155308160		2203	4300	6503	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8538C>G	1.37:g.155308160G>C			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37																																																																																					0.498	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		C	155308160	G	C	155308160	2	2	58	1	0	0	0	0	0	0	0	1	1041	958	34	4		4	ASH1L	1	155308160	Silent	SNP	G	TCGA-A3-3385-01A-02D-1421-08	44598453	155308160	93942461	3	4122											
TBX19	9095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	168269666	168269666	+	Silent	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:168269666C>T	ENST00000367821.3	+	5	723	c.672C>T	c.(670-672)caC>caT	p.H224H		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	224					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H224H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCAGAAATCACCTAAGAGACG	0.458																																																1	Substitution - coding silent(1)	kidney(1)											107	96	100					1																	168269666		2203	4300	6503	SO:0001819	synonymous_variant	9095			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"T-boxes"	11596	protein-coding gene	gene with protein product	"TBS 19"	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.672C>T	1.37:g.168269666C>T			Q52M53	Silent	SNP	ENST00000367821.3	37	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	C	2.752	-0.259877	0.05791	.	.	ENSG00000143178	ENST00000431969;ENST00000441464	.	.	.	5.03	4.0	0.46444	.	.	.	.	.	T	0.26666	0.0652	.	.	.	.	.	.	.	.	.	.	.	.	T	0.13656	-1.0501	3	.	.	.	.	6.2235	0.20695	0.0:0.7164:0.0:0.2836	.	.	.	.	S	157;57	.	.	P	+	1	0	TBX19	166536290	0.924000	0.31332	1.000000	0.80357	0.347000	0.29111	1.102000	0.31050	2.295000	0.77249	0.650000	0.86243	CCT		0.458	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		T	168269666	C	T	168269666	2	4	58	1	0	0	0	0	0	0	0	1	15659	506	18	2		2	TBX19	1	168269666	Silent	SNP	C	TCGA-A3-3385-01A-02D-1421-08	12961506	168269666	80980955	4	4123											
DDX59	83479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200617572	200617572	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:200617572G>A	ENST00000331314.6	-	7	1804	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	DDX59_ENST00000367348.3_Missense_Mutation_p.H531Y|DDX59_ENST00000447706.2_Missense_Mutation_p.H531Y	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	531	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.H531Y(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTTACCTGATGGACATACTCA	0.413																																																2	Substitution - Missense(2)	kidney(2)											144	130	135					1																	200617572		2203	4300	6503	SO:0001583	missense	83479			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1591C>T	1.37:g.200617572G>A	ENSP00000330460:p.His531Tyr		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	CCDS30964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.905164|4.905164	0.92035|0.92035	.|.	.|.	ENSG00000118197|ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000367346;ENST00000331314;ENST00000433235|ENST00000452560;ENST00000429498	T;T;T;T;T|.	0.80123|.	-1.34;-1.34;-1.34;-1.34;-1.34|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91294|0.91294	0.7255|0.7255	H|H	0.98721|0.98721	4.31|4.31	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94724|0.94724	0.7903|0.7903	10|5	0.87932|.	D|.	0|.	-27.8269|-27.8269	19.1974|19.1974	0.93695|0.93695	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	531;531|.	B7Z5N6;Q5T1V6|.	.;DDX59_HUMAN|.	Y|L	531;169;531;117;531;174|67;108	ENSP00000394367:H531Y;ENSP00000394304:H169Y;ENSP00000356317:H531Y;ENSP00000330460:H531Y;ENSP00000409954:H174Y|.	ENSP00000330460:H531Y|.	H|P	-|-	1|2	0|0	DDX59|DDX59	198884195|198884195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.848000|9.848000	0.99507|0.99507	2.529000|2.529000	0.85273|0.85273	0.579000|0.579000	0.79373|0.79373	CAT|CCA		0.413	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		A	200617572	G	A	200617572	3	1	58	1	0	0	0	0	1	0	0	0	4378	1348	47	2	276	2	DDX59	1	200617572	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08	32347906	200617572	48633049	5	4124											
TIMM17A	10440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201926640	201926640	+	Splice_Site	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:201926640G>T	ENST00000367287.4	+	3	164	c.128G>T	c.(127-129)gGa>gTa	p.G43V		NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	43					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.G43V(1)		kidney(1)|lung(3)|stomach(1)	5						TTGTTATAGGGAGTAAACCAC	0.363																																																1	Substitution - Missense(1)	kidney(1)											85	87	86					1																	201926640		2203	4300	6503	SO:0001630	splice_region_variant	10440			AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.127-1G>T	1.37:g.201926640G>T			B2RDM5|Q9BWF5	Missense_Mutation	SNP	ENST00000367287.4	37	CCDS1417.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125297	0.94429	.	.	ENSG00000134375	ENST00000367287	T	0.30981	1.51	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76323	-0.3001	10	0.87932	D	0	-0.9156	18.3732	0.90420	0.0:0.0:1.0:0.0	.	43	Q99595	TI17A_HUMAN	V	43	ENSP00000356256:G43V	ENSP00000356256:G43V	G	+	2	0	TIMM17A	200193263	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.989000	0.93506	2.941000	0.99782	0.655000	0.94253	GGA		0.363	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087092.1	NM_006335	Missense_Mutation	T	201926640	G	T	201926640	5	4	58	1	0	0	0	0	0	0	1	0	15913	1188	41	4	138	4	TIMM17A	1	201926640	Splice_Site	SNP	G	TCGA-A3-3385-01A-02D-1421-08	1309068	201926640	47323981	6	4125											
MSH2	4436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	47703619	47703619	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:47703619T>C	ENST00000233146.2	+	13	2342	c.2119T>C	c.(2119-2121)Tgc>Cgc	p.C707R	MSH2_ENST00000543555.1_Missense_Mutation_p.C641R|MSH2_ENST00000406134.1_Missense_Mutation_p.C707R	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	707					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.C707R(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATTGTGGACTGCATCTTAGC	0.463			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	5	Whole gene deletion(2)|Unknown(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)|kidney(1)											155	138	144					2																	47703619		2203	4300	6503	SO:0001583	missense	4436	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	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2119T>C	2.37:g.47703619T>C	ENSP00000233146:p.Cys707Arg		B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079991	0.55753	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000413880	D;D;D	0.84146	-1.81;-1.81;-1.81	6.08	4.94	0.65067	DNA mismatch repair protein MutS, C-terminal (2);	0.077524	0.85682	D	0.000000	T	0.62744	0.2453	N	0.00465	-1.465	0.80722	D	1	B;P;B	0.35383	0.075;0.498;0.412	B;B;B	0.38500	0.091;0.15;0.275	T	0.73911	-0.3833	10	0.87932	D	0	-10.4436	11.6936	0.51529	0.0:0.0682:0.0:0.9317	.	641;707;707	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	R	707;641;707;707;493	ENSP00000233146:C707R;ENSP00000442697:C641R;ENSP00000384199:C707R	ENSP00000233146:C707R	C	+	1	0	MSH2	47557123	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.881000	0.63114	2.333000	0.79357	0.482000	0.46254	TGC		0.463	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			C	47703619	T	C	47703619	3	2	58	1	0	0	0	0	1	0	0	0	9872	1580	55	3	2169	3	MSH2	2	47703619	Missense_Mutation	SNP	T	TCGA-A3-3385-01A-02D-1421-08		47703619	195495754	7	4126											
VPS54	51542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	64196097	64196097	+	Silent	SNP	T	T	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:64196097T>A	ENST00000272322.4	-	5	640	c.486A>T	c.(484-486)gtA>gtT	p.V162V	VPS54_ENST00000354504.3_Silent_p.V45V|VPS54_ENST00000409558.4_Silent_p.V150V			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	162					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.V162V(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TTACCTTAGGTACTTGCTCCA	0.269																																																1	Substitution - coding silent(1)	kidney(1)											80	80	80					2																	64196097		2202	4298	6500	SO:0001819	synonymous_variant	51542			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.486A>T	2.37:g.64196097T>A			Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	CCDS33208.1																																																																																				0.269	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		A	64196097	T	A	64196097	2	1	58	1	0	0	0	0	0	0	0	1	17221	1625	57	5		5	VPS54	2	64196097	Silent	SNP	T	TCGA-A3-3385-01A-02D-1421-08	16492478	64196097	179003276	8	4127											
TGFBRAP1	9392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	105914998	105914998	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:105914998T>C	ENST00000393359.2	-	3	1279	c.853A>G	c.(853-855)Aag>Gag	p.K285E	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.K285E			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	285	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.K285E(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGGCCCTCCTTAAAGGGCAGC	0.433																																					Esophageal Squamous(183;794 2019 9730 21801 48859)											1	Substitution - Missense(1)	kidney(1)											123	116	118					2																	105914998		2203	4300	6503	SO:0001583	missense	9392			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.853A>G	2.37:g.105914998T>C	ENSP00000377027:p.Lys285Glu		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184623	0.78677	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.04917	3.53;3.53	5.65	5.65	0.86999	Citron-like (2);	0.096296	0.64402	D	0.000001	T	0.09291	0.0229	L	0.56769	1.78	0.54753	D	0.999989	B	0.30870	0.298	B	0.34038	0.174	T	0.14364	-1.0475	10	0.09590	T	0.72	-30.9657	15.8909	0.79296	0.0:0.0:0.0:1.0	.	285	Q8WUH2	TGFA1_HUMAN	E	285	ENSP00000377027:K285E;ENSP00000258449:K285E	ENSP00000258449:K285E	K	-	1	0	TGFBRAP1	105281430	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.825000	0.86693	2.146000	0.66826	0.533000	0.62120	AAG		0.433	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		C	105914998	T	C	105914998	3	2	58	1	0	0	0	0	1	0	0	0	15829	1763	61	3	1769	3	TGFBRAP1	2	105914998	Missense_Mutation	SNP	T	TCGA-A3-3385-01A-02D-1421-08	41718901	105914998	137284375	9	4128											
DPP10	57628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	116485484	116485485	+	Missense_Mutation	DNP	TA	TA	AC			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:116485484_116485485TA>AC	ENST00000410059.1	+	8	1149_1150	c.669_670TA>AC	c.(667-672)ttTAat>ttACat	p.223_224FN>LH	DPP10_ENST00000409163.1_Missense_Mutation_p.173_174FN>LH|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.227_228FN>LH|DPP10_ENST00000310323.8_Missense_Mutation_p.216_217FN>LH	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	223						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.F223>?(1)|p.F223L(1)|p.F216L(1)|p.N224H(1)|p.N217H(1)|p.F216>?(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAATAATTTTTAATGGGATTGC	0.282																																																6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	Exception_encountered	2.37:g.116485484_116485485delinsAC	ENSP00000386565:p.F223_N224delinsLH		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1																																																																																				0.282	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		AC	116485485	TA	AC	116485484	3	1	58	1	0	0	0	0	1	0	0	0	4729	1751	61	5	870	5	DPP10	2	116485484	Missense_Mutation	DNP	TA	TCGA-A3-3385-01A-02D-1421-08	10570486	116485484	126713889	10	4129											
ZEB2	9839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	145157350	145157350	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:145157350G>T	ENST00000558170.2	-	8	2588	c.1404C>A	c.(1402-1404)gaC>gaA	p.D468E	ZEB2_ENST00000303660.4_Missense_Mutation_p.D468E|ZEB2_ENST00000539609.3_Missense_Mutation_p.D444E|ZEB2_ENST00000409487.3_Missense_Mutation_p.D468E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	468	SMAD-MH2 binding domain. {ECO:0000250}.				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.D468E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AAACAGTATTGTCCACAATCT	0.418																																					Melanoma(33;1235 1264 5755 16332)											1	Substitution - Missense(1)	kidney(1)											95	96	96					2																	145157350		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1404C>A	2.37:g.145157350G>T	ENSP00000454157:p.Asp468Glu		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333512	0.41297	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.53	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.87116	0.6097	L	0.47016	1.485	0.51767	D	0.999932	D;D;D;D	0.89917	1.0;0.984;0.984;0.992	D;D;D;D	0.91635	0.999;0.967;0.967;0.992	D	0.86078	0.1542	10	0.52906	T	0.07	-15.5716	12.2525	0.54605	0.1396:0.0:0.8604:0.0	.	444;333;467;468	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	E	444;468;468;468	ENSP00000443792:D444E;ENSP00000302501:D468E;ENSP00000386854:D468E;ENSP00000395496:D468E	ENSP00000302501:D468E	D	-	3	2	ZEB2	144873820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.783000	0.47766	0.673000	0.31224	0.655000	0.94253	GAC		0.418	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		T	145157350	G	T	145157350	3	4	58	1	0	0	0	0	1	0	0	0	17629	1368	48	4	2252	4	ZEB2	2	145157350	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08	28671866	145157350	98042023	11	4130											
CWC22	57703	hgsc.bcm.edu	37	2	180851432	180851432	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:180851432T>A	ENST00000410053.3	-	4	495	c.196A>T	c.(196-198)Atg>Ttg	p.M66L	CWC22_ENST00000295749.6_Missense_Mutation_p.M66L	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	66	Arg-rich.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.M66L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CGTGACTCCATGCTACTATCA	0.338																																																1	Substitution - Missense(1)	kidney(1)											80	74	76					2																	180851432		1855	4088	5943	SO:0001583	missense	57703				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.196A>T	2.37:g.180851432T>A	ENSP00000387006:p.Met66Leu		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.668050	0.29604	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.25085	1.82;1.82;1.82	5.95	2.25	0.28309	.	0.622653	0.18909	N	0.127814	T	0.15998	0.0385	L	0.41236	1.265	0.20074	N	0.999932	B	0.06786	0.001	B	0.04013	0.001	T	0.20840	-1.0263	10	0.23891	T	0.37	-7.2766	3.3147	0.07029	0.3126:0.1597:0.0:0.5277	.	66	Q9HCG8	CWC22_HUMAN	L	66	ENSP00000387006:M66L;ENSP00000295749:M66L;ENSP00000384159:M66L	ENSP00000295749:M66L	M	-	1	0	CWC22	180559677	0.053000	0.20554	0.815000	0.32552	0.901000	0.52897	-0.103000	0.10940	0.460000	0.27045	0.533000	0.62120	ATG		0.338	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		A	180851432	T	A	180851432	3	1	58	1	0	0	0	0	1	0	0	0	4070	1464	51	5	2598	5	CWC22	2	180851432	Missense_Mutation	SNP	T	TCGA-A3-3385-01A-02D-1421-08	35694082	180851432	62347941	12	4131											
SPHKAP	80309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228881372	228881372	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:228881372C>G	ENST00000392056.3	-	7	4244	c.4198G>C	c.(4198-4200)Gat>Cat	p.D1400H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1400H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1400						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.D1400H(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTTTAGAATCTAAAGGGCTG	0.453																																																2	Substitution - Missense(2)	kidney(2)											89	94	92					2																	228881372		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4198G>C	2.37:g.228881372C>G	ENSP00000375909:p.Asp1400His		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031430	0.54790	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13307	2.6;2.61	5.92	3.1	0.35709	.	0.606668	0.19118	N	0.122261	T	0.30448	0.0765	M	0.65975	2.015	0.19775	N	0.999958	D;B;D	0.76494	0.996;0.222;0.999	P;B;D	0.66716	0.717;0.042;0.946	T	0.05971	-1.0853	10	0.72032	D	0.01	.	8.8776	0.35354	0.0:0.7404:0.1237:0.136	.	431;1400;1400	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	H	1400	ENSP00000375909:D1400H;ENSP00000339886:D1400H	ENSP00000339886:D1400H	D	-	1	0	SPHKAP	228589616	0.280000	0.24249	0.002000	0.10522	0.009000	0.06853	2.224000	0.42945	0.373000	0.24621	0.655000	0.94253	GAT		0.453	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		G	228881372	C	G	228881372	3	3	58	1	0	0	0	0	1	0	0	0	15053	913	32	4	928	4	SPHKAP	2	228881372	Missense_Mutation	SNP	C	TCGA-A3-3385-01A-02D-1421-08	48029940	228881372	14318001	13	4132											
VHL	7428	broad.mit.edu	37	3	10183829	10183830	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	AC	AC	AC	-	AC	AC	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq;PacBio			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr3:10183829_10183830delAC	ENST00000256474.2	+	1	1138_1139	c.298_299delAC	c.(298-300)acgfs	p.T100fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.T100fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	100	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.T100fs*32(1)|p.?(1)|p.T100fs*59(1)|p.P97fs*59(1)|p.T100_G106>S(1)|p.Y98fs*27(1)|p.T100A(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCCCTACCCAACGCTGCCGCCT	0.688		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Deletion - Frameshift(3)|Insertion - Frameshift(2)|Substitution - Missense(1)|Complex - deletion inframe(1)	kidney(7)	GRCh37	CI066448	VHL	I																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.298_299delAC	3.37:g.10183829_10183830delAC	ENSP00000256474:p.Thr100fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.688	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183830	AC	-	10183829	7	5	58	1	0	1	0	1	0	0	0	0	17167	43	2	0	300	0	VHL	3	10183829	Frame_Shift_Del	DEL	AC	TCGA-A3-3385-01A-02D-1421-08		10183829	187838601	14	4133											
CAPN7	23473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	15292631	15292631	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr3:15292631T>A	ENST00000253693.2	+	21	2559	c.2306T>A	c.(2305-2307)tTt>tAt	p.F769Y		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	769	Domain N.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)	p.F769Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGGTGTGGGTTTTGCTACCTG	0.308																																																1	Substitution - Missense(1)	kidney(1)											134	138	137					3																	15292631		2203	4300	6503	SO:0001583	missense	23473			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.2306T>A	3.37:g.15292631T>A	ENSP00000253693:p.Phe769Tyr			Missense_Mutation	SNP	ENST00000253693.2	37	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.004497	0.54254	.	.	ENSG00000131375	ENST00000253693	D	0.86627	-2.15	6.04	6.04	0.98038	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.045326	0.85682	D	0.000000	T	0.81688	0.4875	L	0.43923	1.385	0.80722	D	1	P	0.43392	0.805	B	0.39590	0.304	T	0.79864	-0.1623	10	0.07990	T	0.79	-18.6181	16.2858	0.82720	0.0:0.0:0.0:1.0	.	769	Q9Y6W3	CAN7_HUMAN	Y	769	ENSP00000253693:F769Y	ENSP00000253693:F769Y	F	+	2	0	CAPN7	15267635	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.825000	0.86693	2.323000	0.78572	0.529000	0.55759	TTT		0.308	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		A	15292631	T	A	15292631	3	1	58	1	0	0	0	0	1	0	0	0	2633	1841	64	5	2388	5	CAPN7	3	15292631	Missense_Mutation	SNP	T	TCGA-A3-3385-01A-02D-1421-08	5108802	15292631	182729799	15	4134											
TPPP	11076	broad.mit.edu;hgsc.bcm.edu	37	5	678108	678108	+	Nonsense_Mutation	SNP	G	G	T	rs375949324		TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:678108G>T	ENST00000360578.5	-	2	189	c.68C>A	c.(67-69)tCg>tAg	p.S23*	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	23	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.S23*(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCGGTCCTTCGAGGGGTCCCC	0.657																																																1	Substitution - Nonsense(1)	kidney(1)											11	14	13					5																	678108		2193	4295	6488	SO:0001587	stop_gained	11076			AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.68C>A	5.37:g.678108G>T	ENSP00000353785:p.Ser23*			Nonsense_Mutation	SNP	ENST00000360578.5	37	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	g	15.91	2.971955	0.53614	.	.	ENSG00000171368	ENST00000360578	.	.	.	5.32	2.24	0.28232	.	0.759976	0.12180	N	0.492179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7698	9.6319	0.39785	0.0:0.2906:0.5592:0.1502	.	.	.	.	X	23	.	ENSP00000353785:S23X	S	-	2	0	TPPP	731108	0.032000	0.19561	0.000000	0.03702	0.081000	0.17604	2.167000	0.42415	0.558000	0.29135	0.561000	0.74099	TCG		0.657	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		T	678108	G	T	678108	4	4	58	1	0	0	0	0	0	1	0	0	16418	1059	37	4	603	4	TPPP	5	678108	Nonsense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08		678108	180237152	16	4135											
LMBRD2	92255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	36117868	36117868	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:36117868G>A	ENST00000296603.4	-	10	1733	c.1271C>T	c.(1270-1272)gCa>gTa	p.A424V		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	424						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A424V(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTTTTTTCTGCCAGCTGTAT	0.358																																																1	Substitution - Missense(1)	kidney(1)											56	58	58					5																	36117868		2203	4300	6503	SO:0001583	missense	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1271C>T	5.37:g.36117868G>A	ENSP00000296603:p.Ala424Val		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364382	0.95877	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.34072	1.38	5.36	5.36	0.76844	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59841	-0.7378	10	0.25106	T	0.35	-14.5955	19.0947	0.93246	0.0:0.0:1.0:0.0	.	424	Q68DH5	LMBD2_HUMAN	V	424;318	ENSP00000296603:A424V	ENSP00000296603:A424V	A	-	2	0	LMBRD2	36153625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.516000	0.84829	0.650000	0.86243	GCA		0.358	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		A	36117868	G	A	36117868	3	1	58	1	0	0	0	0	1	0	0	0	8845	1319	46	2	852	2	LMBRD2	5	36117868	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08	35439760	36117868	144797392	17	4136											
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37006527	37006527	+	Silent	SNP	G	G	A	rs367925827		TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:37006527G>A	ENST00000282516.8	+	17	4423	c.3924G>A	c.(3922-3924)gcG>gcA	p.A1308A	NIPBL_ENST00000448238.2_Silent_p.A1308A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1308					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.A1308A(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAAAATCAGCGGATGCTTGTC	0.338																																																2	Substitution - coding silent(2)	kidney(2)						G	,	0,4406		0,0,2203	120	112	115		3924,3924	-0.1	1	5		115	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	NIPBL	NM_015384.4,NM_133433.3	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	1308/2698,1308/2805	37006527	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3924G>A	5.37:g.37006527G>A			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																				0.338	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		A	37006527	G	A	37006527	2	1	58	1	0	0	0	0	0	0	0	1	10430	1103	39	1		1	NIPBL	5	37006527	Silent	SNP	G	TCGA-A3-3385-01A-02D-1421-08	888659	37006527	143908733	18	4137											
RICTOR	253260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	38955727	38955727	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:38955727C>T	ENST00000357387.3	-	26	2609	c.2579G>A	c.(2578-2580)gGt>gAt	p.G860D	RICTOR_ENST00000296782.5_Missense_Mutation_p.G860D|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.G860D(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATAGTTATCACCATCAACAGG	0.338																																																1	Substitution - Missense(1)	kidney(1)											172	164	167					5																	38955727		2203	4300	6503	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2579G>A	5.37:g.38955727C>T	ENSP00000349959:p.Gly860Asp			Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353857	0.95830	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.63744	-0.06;0.77	5.64	5.64	0.86602	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81564	0.4849	M	0.79805	2.47	0.80722	D	1	B;D	0.89917	0.244;1.0	B;D	0.91635	0.087;0.999	T	0.83353	-0.0002	10	0.87932	D	0	-15.1367	19.6864	0.95981	0.0:1.0:0.0:0.0	.	860;860	Q6R327;Q6R327-3	RICTR_HUMAN;.	D	860	ENSP00000349959:G860D;ENSP00000296782:G860D	ENSP00000296782:G860D	G	-	2	0	RICTOR	38991484	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.428000	0.80296	2.646000	0.89796	0.650000	0.86243	GGT		0.338	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		T	38955727	C	T	38955727	3	4	58	1	0	0	0	0	1	0	0	0	13364	507	18	2	2599	2	RICTOR	5	38955727	Missense_Mutation	SNP	C	TCGA-A3-3385-01A-02D-1421-08	1949200	38955727	141959533	19	4138											
C5orf44	80006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	64933559	64933559	+	Silent	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:64933559C>T	ENST00000399438.3	+	4	597	c.252C>T	c.(250-252)atC>atT	p.I84I	TRAPPC13_ENST00000545191.1_Silent_p.I84I|TRAPPC13_ENST00000231526.4_Silent_p.I84I|TRAPPC13_ENST00000438419.2_Silent_p.I84I|TRAPPC13_ENST00000505553.1_Silent_p.I84I	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	84								p.I84I(2)									CCAGTTATATCAGCGTTCATA	0.259																																																2	Substitution - coding silent(2)	kidney(2)											46	49	48					5																	64933559		1795	4076	5871	SO:0001819	synonymous_variant	80006				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"Trs65-related"		"chromosome 5 open reading frame 44"	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.252C>T	5.37:g.64933559C>T			Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Silent	SNP	ENST00000399438.3	37	CCDS47222.1																																																																																				0.259	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941		T	64933559	C	T	64933559	2	4	58	1	0	0	0	0	0	0	0	1	2305	816	29	2		2	C5orf44	5	64933559	Silent	SNP	C	TCGA-A3-3385-01A-02D-1421-08	25977832	64933559	115981701	20	4139											
PCDHGB4	8641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140768184	140768184	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:140768184G>C	ENST00000519479.1	+	1	733	c.733G>C	c.(733-735)Gac>Cac	p.D245H	PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	245	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D245H(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCAGTCAAGACGTATACAG	0.522																																																1	Substitution - Missense(1)	kidney(1)											185	184	184					5																	140768184		2040	4209	6249	SO:0001583	missense	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.733G>C	5.37:g.140768184G>C	ENSP00000428288:p.Asp245His		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	7.782	0.709689	0.15239	.	.	ENSG00000253953	ENST00000519479	T	0.01887	4.58	4.99	4.11	0.48088	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.08268	0.0206	M	0.76433	2.335	0.09310	N	1	D;D	0.61080	0.989;0.981	D;P	0.63381	0.914;0.823	T	0.28170	-1.0052	9	0.56958	D	0.05	.	3.8292	0.08867	0.1505:0.1299:0.5855:0.1341	.	245;245	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	H	245	ENSP00000428288:D245H	ENSP00000428288:D245H	D	+	1	0	PCDHGB4	140748368	0.000000	0.05858	0.128000	0.21923	0.020000	0.10135	-0.323000	0.07997	1.219000	0.43474	0.655000	0.94253	GAC		0.522	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		C	140768184	G	C	140768184	3	2	58	1	0	0	0	0	1	0	0	0	11567	942	33	4	735	4	PCDHGB4	5	140768184	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08	75834625	140768184	40147076	21	4140											
BEND6	221336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56883335	56883335	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:56883335G>T	ENST00000370746.3	+	6	1098	c.829G>T	c.(829-831)Gat>Tat	p.D277Y	BEND6_ENST00000545789.1_Missense_Mutation_p.D179Y|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)	p.D277Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TAACTCTCAGGATATTAAATA	0.308																																																1	Substitution - Missense(1)	kidney(1)											60	57	58					6																	56883335		1816	4066	5882	SO:0001583	missense	221336			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"BEN domain containing"	20871	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 65"	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.829G>T	6.37:g.56883335G>T	ENSP00000359782:p.Asp277Tyr		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925654	0.73213	.	.	ENSG00000151917	ENST00000370746;ENST00000545789	.	.	.	4.96	4.96	0.65561	.	0.439888	0.16249	U	0.222800	T	0.40297	0.1111	N	0.19112	0.55	0.42411	D	0.992605	P;D	0.54207	0.94;0.965	P;P	0.51229	0.564;0.663	T	0.45948	-0.9226	9	0.87932	D	0	-20.2422	15.8616	0.79026	0.0:0.0:1.0:0.0	.	277;179	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	Y	277;179	.	ENSP00000359782:D277Y	D	+	1	0	BEND6	56991294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.622000	0.54217	2.727000	0.93392	0.655000	0.94253	GAT		0.308	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		T	56883335	G	T	56883335	3	4	58	1	0	0	0	0	1	0	0	0	1402	1174	41	4	847	4	BEND6	6	56883335	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08		56883335	114231732	22	4141											
C6orf221	154288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	74073548	74073548	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:74073548C>T	ENST00000370367.3	+	3	672	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	207							RNA binding (GO:0003723)	p.R207C(1)									CCAGCGGTTTCGCGAGGATGC	0.622																																																1	Substitution - Missense(1)	kidney(1)											33	34	34					6																	74073548		2201	4298	6499	SO:0001583	missense	0			AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.619C>T	6.37:g.74073548C>T	ENSP00000359392:p.Arg207Cys		B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	C	8.910	0.958466	0.18507	.	.	ENSG00000203908	ENST00000370367	T	0.46819	0.86	2.24	0.35	0.16037	.	1.253690	0.05990	N	0.645817	T	0.11965	0.0291	N	0.22421	0.69	0.09310	N	1	P	0.44044	0.825	B	0.34722	0.188	T	0.15838	-1.0423	10	0.66056	D	0.02	.	3.714	0.08431	0.0:0.5863:0.2545:0.1593	.	207	Q587J8	ECAT1_HUMAN	C	207	ENSP00000359392:R207C	ENSP00000359392:R207C	R	+	1	0	C6orf221	74130269	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.055000	0.11807	0.068000	0.16574	-0.657000	0.03884	CGC		0.622	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		T	74073548	C	T	74073548	3	4	58	1	0	0	0	0	1	0	0	0	2357	884	31	1	629	1	C6orf221	6	74073548	Missense_Mutation	SNP	C	TCGA-A3-3385-01A-02D-1421-08	17190213	74073548	97041519	23	4142											
LCA5	167691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	80203392	80203392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:80203392C>A	ENST00000392959.1	-	5	1407	c.796G>T	c.(796-798)Gag>Tag	p.E266*	LCA5_ENST00000467898.3_Nonsense_Mutation_p.E266*|LCA5_ENST00000369846.4_Nonsense_Mutation_p.E266*	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	266					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.E266*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCATGAGCCTCATATGCCCTT	0.333																																																1	Substitution - Nonsense(1)	kidney(1)											129	122	124					6																	80203392		2203	4300	6503	SO:0001587	stop_gained	167691				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.796G>T	6.37:g.80203392C>A	ENSP00000376686:p.Glu266*		E1P542|Q9BWX7	Nonsense_Mutation	SNP	ENST00000392959.1	37	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	38	7.249112	0.98164	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	.	.	.	5.56	4.63	0.57726	.	0.392275	0.30020	N	0.010602	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-4.4272	7.9371	0.29935	0.1612:0.7575:0.0:0.0813	.	.	.	.	X	266	.	ENSP00000358861:E266X	E	-	1	0	LCA5	80260111	0.977000	0.34250	0.977000	0.42913	0.710000	0.40934	2.813000	0.48002	2.777000	0.95525	0.591000	0.81541	GAG		0.333	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		A	80203392	C	A	80203392	4	1	58	1	0	0	0	0	0	1	0	0	8658	835	29	4	1317	4	LCA5	6	80203392	Nonsense_Mutation	SNP	C	TCGA-A3-3385-01A-02D-1421-08	6129844	80203392	90911675	24	4143											
HACE1	57531	broad.mit.edu;hgsc.bcm.edu	37	6	105192486	105192486	+	Splice_Site	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:105192486C>A	ENST00000262903.4	-	21	2620		c.e21-1		HACE1_ENST00000517995.1_Splice_Site|HACE1_ENST00000369125.2_Splice_Site	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1						cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GCAGTAGCTCCTTGGGGGAAG	0.323																																																1	Unknown(1)	kidney(1)											58	58	58					6																	105192486		2203	4297	6500	SO:0001630	splice_region_variant	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2344-1G>T	6.37:g.105192486C>A			A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Splice_Site	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160006	0.78226	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000518503;ENST00000518402	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HACE1	105299179	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.096000	0.76960	2.805000	0.96524	0.655000	0.94253	.		0.323	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	Intron	A	105192486	C	A	105192486	5	1	58	1	0	0	0	0	0	0	1	0	6942	695	24	4	402	4	HACE1	6	105192486	Splice_Site	SNP	C	TCGA-A3-3385-01A-02D-1421-08	24989094	105192486	65922581	25	4144											
LAMA2	3908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	129663519	129663519	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:129663519G>C	ENST00000421865.2	+	30	4392	c.4343G>C	c.(4342-4344)tGt>tCt	p.C1448S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1448	Laminin EGF-like 15. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.C1448S(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGTGACTTCTGTGAACGATGT	0.378																																																1	Substitution - Missense(1)	kidney(1)											161	148	152					6																	129663519		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4343G>C	6.37:g.129663519G>C	ENSP00000400365:p.Cys1448Ser		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615475	0.87359	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.97791	-4.54	5.57	5.57	0.84162	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98150	1.0441	10	0.87932	D	0	.	18.6919	0.91586	0.0:0.0:1.0:0.0	.	1448;1448	A6NF00;P24043	.;LAMA2_HUMAN	S	1448	ENSP00000400365:C1448S	ENSP00000346769:C1448S	C	+	2	0	LAMA2	129705212	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.479000	0.90431	2.785000	0.95823	0.655000	0.94253	TGT		0.378	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			C	129663519	G	C	129663519	3	2	58	1	0	0	0	0	1	0	0	0	8608	1377	48	4	4461	4	LAMA2	6	129663519	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08	24471033	129663519	41451548	26	4145											
EPB41L2	2037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	131190764	131190764	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:131190764A>C	ENST00000337057.3	-	15	2727	c.2546T>G	c.(2545-2547)gTt>gGt	p.V849G	EPB41L2_ENST00000524581.1_Missense_Mutation_p.V227G|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V779G|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V779G|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V849G	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	849					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.V849G(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCTCCGTTAACTTTCTGTGG	0.468																																																1	Substitution - Missense(1)	kidney(1)											199	160	173					6																	131190764		2203	4300	6503	SO:0001583	missense	2037			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2546T>G	6.37:g.131190764A>C	ENSP00000338481:p.Val849Gly		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.417830	0.83449	.	.	ENSG00000079819	ENST00000337057;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000529208;ENST00000527423	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	5.71	5.71	0.89125	.	1.109740	0.06658	N	0.763937	T	0.47893	0.1470	M	0.67953	2.075	0.80722	D	1	D;D	0.65815	0.995;0.993	P;P	0.57468	0.821;0.791	T	0.34502	-0.9826	10	0.16896	T	0.51	.	15.9811	0.80111	1.0:0.0:0.0:0.0	.	849;227	O43491;Q6R5J7	E41L2_HUMAN;.	G	849;849;779;227;779;248	ENSP00000338481:V849G;ENSP00000357110:V849G;ENSP00000436348:V779G;ENSP00000437207:V227G;ENSP00000436641:V779G;ENSP00000437295:V248G	ENSP00000338481:V849G	V	-	2	0	EPB41L2	131232457	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	8.466000	0.90387	2.179000	0.69175	0.379000	0.24179	GTT		0.468	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			C	131190764	A	C	131190764	3	2	58	1	0	0	0	0	1	0	0	0	5155	43	2	5	491	5	EPB41L2	6	131190764	Missense_Mutation	SNP	A	TCGA-A3-3385-01A-02D-1421-08	1527245	131190764	39924303	27	4146											
HERPUD2	64224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	35678058	35678058	+	Silent	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr7:35678058C>A	ENST00000396081.1	-	5	1323	c.519G>T	c.(517-519)ggG>ggT	p.G173G	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.G173G	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	173					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G173G(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GAGCAGCTTGCCCAGGAAATT	0.403																																																1	Substitution - coding silent(1)	kidney(1)											70	67	68					7																	35678058		2203	4300	6503	SO:0001819	synonymous_variant	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.519G>T	7.37:g.35678058C>A			A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	CCDS5446.1																																																																																				0.403	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		A	35678058	C	A	35678058	2	1	58	1	0	0	0	0	0	0	0	1	7066	726	26	4		4	HERPUD2	7	35678058	Silent	SNP	C	TCGA-A3-3385-01A-02D-1421-08		35678058	123460605	28	4147											
BAZ1B	9031	broad.mit.edu;hgsc.bcm.edu	37	7	72892732	72892732	+	Silent	SNP	C	C	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr7:72892732C>G	ENST00000339594.4	-	7	1397	c.1059G>C	c.(1057-1059)gtG>gtC	p.V353V	BAZ1B_ENST00000404251.1_Silent_p.V353V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	353	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.V353V(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGAGTTCTTCACTTTGAGTG	0.393																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											1	Substitution - coding silent(1)	kidney(1)											93	86	88					7																	72892732		2203	4300	6503	SO:0001819	synonymous_variant	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1059G>C	7.37:g.72892732C>G			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				0.393	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		G	72892732	C	G	72892732	2	3	58	1	0	0	0	0	0	0	0	1	1330	813	29	4		4	BAZ1B	7	72892732	Silent	SNP	C	TCGA-A3-3385-01A-02D-1421-08	37214674	72892732	86245931	29	4148											
ZSCAN21	7589	hgsc.bcm.edu;ucsc.edu	37	7	99661552	99661552	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr7:99661552delA	ENST00000292450.4	+	4	898	c.734delA	c.(733-735)gaafs	p.E245fs	ZSCAN21_ENST00000543588.1_Frame_Shift_Del_p.E245fs|ZSCAN21_ENST00000477297.1_Intron|ZSCAN21_ENST00000456748.2_Frame_Shift_Del_p.E245fs	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	245					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GTAAACCTTGAAAATGAAAAA	0.448																																																0													100	98	99					7																	99661552		2203	4300	6503	SO:0001589	frameshift_variant	7589			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.734delA	7.37:g.99661552delA	ENSP00000292450:p.Glu245fs		A4D2A6|D6W5T9|Q9H0B5	Frame_Shift_Del	DEL	ENST00000292450.4	37	CCDS5681.1																																																																																				0.448	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		-	99661552	A	-	99661552	7	5	58	1	0	1	0	1	0	0	0	0	18238	246	9	0	744	0	ZSCAN21	7	99661552	Frame_Shift_Del	DEL	A	TCGA-A3-3385-01A-02D-1421-08	26768820	99661552	59477111	30	4149											
TFEC	22797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	115624462	115624462	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr7:115624462G>C	ENST00000265440.7	-	2	214	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	TFEC_ENST00000393485.1_Missense_Mutation_p.L12V|TFEC_ENST00000484212.1_Missense_Mutation_p.L102V|TFEC_ENST00000320239.7_Missense_Mutation_p.L12V	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	12	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L12V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GACCATTTAAGAGTTGGATTG	0.493																																																1	Substitution - Missense(1)	kidney(1)											181	160	167					7																	115624462		2203	4300	6503	SO:0001583	missense	22797			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.34C>G	7.37:g.115624462G>C	ENSP00000265440:p.Leu12Val		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844712	0.32606	.	.	ENSG00000105967	ENST00000265440;ENST00000320239;ENST00000393485;ENST00000484212	T;T;T;T	0.28255	1.88;1.62;1.82;2.39	5.09	2.14	0.27477	.	0.330391	0.27673	N	0.018322	T	0.33876	0.0878	L	0.34521	1.04	0.09310	N	0.999992	D;P;P;D	0.63880	0.993;0.837;0.649;0.962	P;P;B;B	0.58331	0.837;0.475;0.254;0.354	T	0.09422	-1.0675	10	0.49607	T	0.09	0.0	8.0378	0.30504	0.0842:0.3035:0.6123:0.0	.	102;12;12;12	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	V	12;12;12;102	ENSP00000265440:L12V;ENSP00000318676:L12V;ENSP00000377125:L12V;ENSP00000417432:L102V	ENSP00000265440:L12V	L	-	1	0	TFEC	115411698	0.063000	0.20901	0.004000	0.12327	0.112000	0.19704	0.965000	0.29319	0.205000	0.20568	0.655000	0.94253	CTT		0.493	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		C	115624462	G	C	115624462	3	2	58	1	0	0	0	0	1	0	0	0	15807	942	33	4	1037	4	TFEC	7	115624462	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08	15962910	115624462	43514201	31	4150											
KIF13B	23303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	29018370	29018370	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr8:29018370delC	ENST00000524189.1	-	13	1322	c.1284delG	c.(1282-1284)cagfs	p.Q428fs	KIF13B_ENST00000521515.1_Frame_Shift_Del_p.Q428fs	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	428					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GACTCTCAAGCTGTTTCTGTC	0.388																																																0													94	87	89					8																	29018370		1851	4100	5951	SO:0001589	frameshift_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1284delG	8.37:g.29018370delC	ENSP00000427900:p.Gln428fs		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Frame_Shift_Del	DEL	ENST00000524189.1	37	CCDS55217.1																																																																																				0.388	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			-	29018370	C	-	29018370	7	5	58	1	0	1	0	1	0	0	0	0	8277	796	28	0	4308	0	KIF13B	8	29018370	Frame_Shift_Del	DEL	C	TCGA-A3-3385-01A-02D-1421-08		29018370	117345652	32	4151											
FGFR1	2260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38314935	38314935	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr8:38314935C>A	ENST00000447712.2	-	2	971	c.30G>T	c.(28-30)tgG>tgT	p.W10C	FGFR1_ENST00000397113.2_Missense_Mutation_p.W10C|FGFR1_ENST00000397103.1_Missense_Mutation_p.W10C|FGFR1_ENST00000532791.1_Missense_Mutation_p.W10C|FGFR1_ENST00000397108.4_Missense_Mutation_p.W10C|FGFR1_ENST00000425967.3_Missense_Mutation_p.W43C|FGFR1_ENST00000326324.6_Missense_Mutation_p.W10C|FGFR1_ENST00000397091.5_Missense_Mutation_p.W10C|FGFR1_ENST00000356207.5_Missense_Mutation_p.W10C|FGFR1_ENST00000341462.5_Missense_Mutation_p.W10C|FGFR1_ENST00000335922.5_5'UTR	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	10					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)	p.W10C(4)	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)	CCAGCACAGCCCAGAAGAGGA	0.602		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	4	Substitution - Missense(4)	kidney(4)											72	63	66					8																	38314935		2203	4300	6503	SO:0001583	missense	2260			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.30G>T	8.37:g.38314935C>A	ENSP00000400162:p.Trp10Cys		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013539	0.54468	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000326324;ENST00000397103;ENST00000397108;ENST00000326296;ENST00000525001;ENST00000526742;ENST00000529552;ENST00000530568;ENST00000434187;ENST00000413133	T;T;T;T;T;T;T;D;D;T;T;T;T;T;T;T	0.82433	-1.09;-1.1;-1.11;-1.1;-1.11;-1.09;-1.38;-1.59;-1.61;-1.09;-0.94;-1.3;-1.34;-1.06;-0.55;-1.15	5.46	5.46	0.80206	.	0.958874	0.08737	N	0.901125	D	0.85818	0.5785	N	0.14661	0.345	0.58432	D	0.999998	D;D;D;D;P;P;D;D;D;D;D	0.89917	0.999;0.966;0.98;0.98;0.859;0.553;1.0;0.966;0.999;0.995;0.98	D;P;P;P;B;B;D;P;D;P;P	0.87578	0.995;0.878;0.804;0.804;0.133;0.102;0.998;0.641;0.973;0.789;0.804	T	0.82993	-0.0181	10	0.72032	D	0.01	.	16.2286	0.82318	0.0:1.0:0.0:0.0	.	10;10;10;43;10;10;10;10;10;10;10	B5A959;P11362-3;P11362-7;P11362-21;B5A958;P11362-14;P11362-4;P11362;P11362-16;P11362-18;P11362-2	.;.;.;.;.;.;.;FGFR1_HUMAN;.;.;.	C	10;43;10;10;10;10;10;10;10;10;10;10;10;10;10;10;10;10	ENSP00000380280:W10C;ENSP00000393312:W43C;ENSP00000400162:W10C;ENSP00000340636:W10C;ENSP00000432972:W10C;ENSP00000380302:W10C;ENSP00000348537:W10C;ENSP00000327229:W10C;ENSP00000380292:W10C;ENSP00000380297:W10C;ENSP00000434712:W10C;ENSP00000433569:W10C;ENSP00000435283:W10C;ENSP00000434473:W10C;ENSP00000392645:W10C;ENSP00000400708:W10C	ENSP00000311337:W10C	W	-	3	0	FGFR1	38434092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.678000	0.61641	2.562000	0.86427	0.462000	0.41574	TGG		0.602	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	38314935	C	A	38314935	3	1	58	1	0	0	0	0	1	0	0	0	5865	624	22	4	2817	4	FGFR1	8	38314935	Missense_Mutation	SNP	C	TCGA-A3-3385-01A-02D-1421-08	9296565	38314935	108049087	33	4152											
PENK	5179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	57353861	57353861	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr8:57353861T>G	ENST00000314922.3	-	2	850	c.774A>C	c.(772-774)gaA>gaC	p.E258D	PENK_ENST00000523274.1_5'Flank|PENK_ENST00000451791.2_Missense_Mutation_p.E258D	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	258					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.E258D(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CGTATCTTTTTTCCATTTCAG	0.493																																																1	Substitution - Missense(1)	kidney(1)											77	87	84					8																	57353861		2203	4300	6503	SO:0001583	missense	5179				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.774A>C	8.37:g.57353861T>G	ENSP00000324248:p.Glu258Asp		B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176551	0.57692	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.75050	-0.9;-0.9	5.91	-5.22	0.02806	.	0.095596	0.64402	D	0.000001	T	0.60637	0.2284	L	0.46885	1.475	0.80722	D	1	B	0.21606	0.058	B	0.21917	0.037	T	0.36432	-0.9748	10	0.51188	T	0.08	-17.822	10.1985	0.43069	0.0982:0.539:0.0:0.3628	.	258	P01210	PENK_HUMAN	D	258	ENSP00000324248:E258D;ENSP00000400894:E258D	ENSP00000324248:E258D	E	-	3	2	PENK	57516415	0.953000	0.32496	0.931000	0.37212	0.991000	0.79684	0.000000	0.12993	-0.584000	0.05913	0.533000	0.62120	GAA		0.493	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			G	57353861	T	G	57353861	3	3	58	1	0	0	0	0	1	0	0	0	11729	1838	64	5	33	5	PENK	8	57353861	Missense_Mutation	SNP	T	TCGA-A3-3385-01A-02D-1421-08	19038926	57353861	89010161	34	4153											
ZFAND1	79752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	82626242	82626242	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr8:82626242A>G	ENST00000220669.5	-	6	409	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	ZFAND1_ENST00000521895.1_Missense_Mutation_p.W24R|ZFAND1_ENST00000523096.1_Missense_Mutation_p.W131R|ZFAND1_ENST00000521287.1_Missense_Mutation_p.W24R|ZFAND1_ENST00000519523.1_Missense_Mutation_p.W131R|ZFAND1_ENST00000522520.1_Missense_Mutation_p.W24R|ZFAND1_ENST00000517588.1_Missense_Mutation_p.W24R	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	131							zinc ion binding (GO:0008270)	p.W131R(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCACCTTTCCATCGTTTACTT	0.348																																																1	Substitution - Missense(1)	kidney(1)											191	161	171					8																	82626242		2203	4300	6503	SO:0001583	missense	79752				CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"Zinc fingers, AN1-type domain containing"	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.391T>C	8.37:g.82626242A>G	ENSP00000220669:p.Trp131Arg		E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	37	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	G	5.860	0.342932	0.11069	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742;ENST00000518419;ENST00000520076	.	.	.	5.69	3.77	0.43336	.	0.000000	0.85682	N	0.000000	T	0.03871	0.0109	N	0.00038	-2.52	0.20764	N	0.99985	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34725	-0.9817	9	0.21540	T	0.41	.	6.7211	0.23330	0.135:0.0:0.6106:0.2544	.	131;131	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	R	131;131;24;24;24;24;24;131;24;24;24;24;24;24	.	ENSP00000220669:W131R	W	-	1	0	ZFAND1	82788797	0.616000	0.27035	0.999000	0.59377	0.994000	0.84299	0.902000	0.28459	0.742000	0.32697	-0.128000	0.14901	TGG		0.348	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		G	82626242	A	G	82626242	3	3	58	1	0	0	0	0	1	0	0	0	17631	217	8	3	475	3	ZFAND1	8	82626242	Missense_Mutation	SNP	A	TCGA-A3-3385-01A-02D-1421-08	25272381	82626242	63737780	35	4154											
RNF20	56254	broad.mit.edu	37	9	104324630	104324630	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr9:104324630A>C	ENST00000389120.3	+	20	2944	c.2854A>C	c.(2854-2856)Acc>Ccc	p.T952P		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	952					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T952P(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ACGCTATGACACCCGCCAGCG	0.448																																																1	Substitution - Missense(1)	kidney(1)											134	115	121					9																	104324630		2203	4300	6503	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2854A>C	9.37:g.104324630A>C	ENSP00000373772:p.Thr952Pro		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500751	0.85176	.	.	ENSG00000155827	ENST00000389120	D	0.86297	-2.1	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92972	0.6398	10	0.72032	D	0.01	-14.9736	16.2377	0.82389	1.0:0.0:0.0:0.0	.	952	Q5VTR2	BRE1A_HUMAN	P	952	ENSP00000373772:T952P	ENSP00000373772:T952P	T	+	1	0	RNF20	103364451	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.919000	0.92770	2.371000	0.80710	0.533000	0.62120	ACC		0.448	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		C	104324630	A	C	104324630	3	2	58	1	0	0	0	0	1	0	0	0	13479	159	6	5	2928	5	RNF20	9	104324630	Missense_Mutation	SNP	A	TCGA-A3-3385-01A-02D-1421-08		104324630	36888801	36	4155											
NOTCH1	4851	broad.mit.edu	37	9	139396756	139396756	+	Silent	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr9:139396756C>A	ENST00000277541.6	-	28	5427	c.5352G>T	c.(5350-5352)cgG>cgT	p.R1784R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1784					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1785R(1)|p.R1784R(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGAGGGGCTCCCGCCGCTTCT	0.701			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	2	Substitution - coding silent(2)	kidney(2)											15	19	18					9																	139396756		1938	4120	6058	SO:0001819	synonymous_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5352G>T	9.37:g.139396756C>A			Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1																																																																																				0.701	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		A	139396756	C	A	139396756	2	1	58	1	0	0	0	0	0	0	0	1	10549	610	22	4		4	NOTCH1	9	139396756	Silent	SNP	C	TCGA-A3-3385-01A-02D-1421-08	35072126	139396756	1816675	37	4156											
SVIL	6840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	29769552	29769552	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr10:29769552T>C	ENST00000355867.4	-	29	6043	c.5291A>G	c.(5290-5292)tAt>tGt	p.Y1764C	PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.Y1764C|SVIL_ENST00000535393.1_Missense_Mutation_p.Y678C|SVIL_ENST00000538146.1_Missense_Mutation_p.Y556C|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.Y1338C	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1764					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.Y1764C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAGCCTGCTATAGTCGAATTC	0.557																																																1	Substitution - Missense(1)	kidney(1)											108	97	100					10																	29769552		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5291A>G	10.37:g.29769552T>C	ENSP00000348128:p.Tyr1764Cys		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581418	0.65992	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.54	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.988;0.997	D;D;D;D	0.76071	0.987;0.96;0.98;0.954	T	0.43097	-0.9412	10	0.62326	D	0.03	-16.7956	14.0434	0.64690	0.0:0.0:0.0:1.0	.	678;556;1338;1764	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	C	1338;1764;1764;678;718;556	ENSP00000364549:Y1338C;ENSP00000364547:Y1764C;ENSP00000348128:Y1764C;ENSP00000445472:Y678C;ENSP00000440343:Y556C	ENSP00000348128:Y1764C	Y	-	2	0	SVIL	29809558	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.774000	0.85478	1.895000	0.54865	0.459000	0.35465	TAT		0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			C	29769552	T	C	29769552	3	2	58	1	0	0	0	0	1	0	0	0	15426	1406	49	3	1393	3	SVIL	10	29769552	Missense_Mutation	SNP	T	TCGA-A3-3385-01A-02D-1421-08		29769552	105765195	38	4157											
SIRT1	23411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	69676090	69676091	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr10:69676090_69676091insA	ENST00000212015.6	+	9	2037_2038	c.1984_1985insA	c.(1984-1986)gaafs	p.E662fs	SIRT1_ENST00000432464.1_Frame_Shift_Ins_p.E367fs|SIRT1_ENST00000406900.1_Frame_Shift_Ins_p.E359fs|SIRT1_ENST00000403579.1_Frame_Shift_Ins_p.E359fs	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	662					angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TTCAGACTCTGAAGATGACGTC	0.391																																																0																																										SO:0001589	frameshift_variant	23411			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1986dupA	10.37:g.69676092_69676092dupA	ENSP00000212015:p.Glu662fs		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Frame_Shift_Ins	INS	ENST00000212015.6	37	CCDS7273.1																																																																																				0.391	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			A	69676091	-	A	69676090	7	5	58	1	0	1	1	0	0	0	0	0	14343	1291	45	0	2018	0	SIRT1	10	69676090	Frame_Shift_Ins	INS	-	TCGA-A3-3385-01A-02D-1421-08	39906538	69676090	65858657	39	4158											
NLRP10	338322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	7981799	7981799	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr11:7981799A>C	ENST00000328600.2	-	2	1521	c.1360T>G	c.(1360-1362)Ttg>Gtg	p.L454V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	454	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.L454V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAAGTCCCAATTGGTAGTCG	0.483																																																1	Substitution - Missense(1)	kidney(1)											106	117	113					11																	7981799		2201	4296	6497	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1360T>G	11.37:g.7981799A>C	ENSP00000327763:p.Leu454Val		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	2.879	-0.232300	0.05983	.	.	ENSG00000182261	ENST00000328600	D	0.87491	-2.26	4.86	-2.1	0.07210	.	1.377200	0.05139	N	0.493853	T	0.70988	0.3287	N	0.08118	0	0.09310	N	1	B	0.21821	0.061	B	0.22753	0.041	T	0.58929	-0.7549	10	0.62326	D	0.03	.	1.0833	0.01647	0.1449:0.3271:0.2734:0.2546	.	454	Q86W26	NAL10_HUMAN	V	454	ENSP00000327763:L454V	ENSP00000327763:L454V	L	-	1	2	NLRP10	7938375	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.057000	0.14279	-0.249000	0.09569	-2.311000	0.00256	TTG		0.483	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		C	7981799	A	C	7981799	3	2	58	1	0	0	0	0	1	0	0	0	10474	98	4	5	611	5	NLRP10	11	7981799	Missense_Mutation	SNP	A	TCGA-A3-3385-01A-02D-1421-08		7981799	127024717	40	4159											
DEPDC4	120863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100660755	100660755	+	Silent	SNP	G	G	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr12:100660755G>A	ENST00000416321.1	-	1	102	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	SCYL2_ENST00000360820.2_5'Flank	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	34				L -> G (in Ref. 2; AAH15117). {ECO:0000305}.	intracellular signal transduction (GO:0035556)			p.L34L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GGCCCGTTCAGCCCTGGGCCC	0.577																																																1	Substitution - coding silent(1)	kidney(1)											103	107	106					12																	100660755		2203	4300	6503	SO:0001819	synonymous_variant	120863			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.100C>T	12.37:g.100660755G>A			Q496C8|Q96BW0	Silent	SNP	ENST00000416321.1	37	CCDS9075.1																																																																																				0.577	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		A	100660755	G	A	100660755	2	1	58	1	0	0	0	0	0	0	0	1	4443	962	34	2		2	DEPDC4	12	100660755	Silent	SNP	G	TCGA-A3-3385-01A-02D-1421-08		100660755	33191140	41	4160											
NCOR2	9612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124858994	124858994	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr12:124858994C>T	ENST00000405201.1	-	19	2183	c.2183G>A	c.(2182-2184)gGg>gAg	p.G728E	NCOR2_ENST00000429285.2_Intron|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000404121.2_Intron|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000356219.3_Missense_Mutation_p.G728E			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	728					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.G728E(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cacctcattcccagaggcatg	0.652																																																2	Substitution - Missense(2)	kidney(2)											30	33	32					12																	124858994		1987	4150	6137	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2183G>A	12.37:g.124858994C>T	ENSP00000384018:p.Gly728Glu		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	9.579	1.122955	0.20959	.	.	ENSG00000196498	ENST00000405201;ENST00000356219;ENST00000447011;ENST00000458234	T;T;T	0.51325	0.71;0.71;0.71	1.87	1.87	0.25490	.	0.716506	0.11990	N	0.509927	T	0.43255	0.1239	L	0.39898	1.24	0.80722	D	1	D	0.67145	0.996	P	0.53988	0.739	T	0.45293	-0.9271	10	0.02654	T	1	-14.9243	9.7674	0.40570	0.0:1.0:0.0:0.0	.	728	C9JFD3	.	E	728	ENSP00000384018:G728E;ENSP00000348551:G728E;ENSP00000402808:G728E	ENSP00000348551:G728E	G	-	2	0	NCOR2	123424947	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	1.306000	0.33505	1.354000	0.45846	0.561000	0.74099	GGG		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		T	124858994	C	T	124858994	3	4	58	1	0	0	0	0	1	0	0	0	10238	623	22	2	5501	2	NCOR2	12	124858994	Missense_Mutation	SNP	C	TCGA-A3-3385-01A-02D-1421-08	24198239	124858994	8992901	42	4161											
SCARB1	949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	125267275	125267275	+	Intron	SNP	A	A	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr12:125267275A>G	ENST00000415380.2	-	11	1777				SCARB1_ENST00000261693.6_Missense_Mutation_p.M495T|SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000546215.1_Missense_Mutation_p.M467T|SCARB1_ENST00000376788.1_Missense_Mutation_p.M395T			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.M495T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGCTGATGTCATCAGGGATTC	0.488																																																1	Substitution - Missense(1)	kidney(1)											109	104	106					12																	125267275		2203	4300	6503	SO:0001627	intron_variant	949			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1651+3377T>C	12.37:g.125267275A>G			F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		.	.	.	.	.	.	.	.	.	.	A	14.12	2.440480	0.43326	.	.	ENSG00000073060	ENST00000261693;ENST00000376788;ENST00000546215	T;T;T	0.68181	0.21;-0.02;-0.31	5.24	5.24	0.73138	.	40.560100	0.00166	N	0.000000	T	0.81616	0.4860	M	0.68317	2.08	0.80722	D	1	D;D	0.57899	0.967;0.981	D;D	0.69142	0.916;0.962	T	0.63422	-0.6641	10	0.26408	T	0.33	-13.2231	11.5304	0.50607	1.0:0.0:0.0:0.0	.	467;495	B7ZKQ9;Q8WTV0-2	.;.	T	495;395;467	ENSP00000261693:M495T;ENSP00000365984:M395T;ENSP00000442862:M467T	ENSP00000261693:M495T	M	-	2	0	SCARB1	123833228	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.781000	0.62389	1.973000	0.57446	0.459000	0.35465	ATG		0.488	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		G	125267275	A	G	125267275	1	3	58	0	1	0	0	0	0	0	0	0	13887	217	8	3		3	SCARB1	12	125267275	Intron	SNP	A	TCGA-A3-3385-01A-02D-1421-08	408281	125267275	8584620	43	4162											
SHISA2	387914	hgsc.bcm.edu	37	13	26624935	26624935	+	Missense_Mutation	SNP	C	C	T	rs111516934	byFrequency	TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr13:26624935C>T	ENST00000319420.3	-	1	234	c.179G>A	c.(178-180)gGc>gAc	p.G60D	LINC00415_ENST00000439079.1_lincRNA	NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	60					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GGCGTCGCCGCCGTCGAAGCG	0.741													C|||	550	0.109824	0.0068	0.1787	5008	,	,		13292	0.0784		0.172	False		,,,				2504	0.1687															0								C	ASP/GLY	94,3232		5,84,1574	4	4	4		179	3.4	1	13	dbSNP_132	4	937,5929		67,803,2563	yes	missense	SHISA2	NM_001007538.1	94	72,887,4137	TT,TC,CC		13.647,2.8262,10.1158	probably-damaging	60/296	26624935	1031,9161	1663	3433	5096	SO:0001583	missense	387914				CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.179G>A	13.37:g.26624935C>T	ENSP00000313079:p.Gly60Asp		B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	CCDS31951.1	251	0.11492673992673992	3	0.006097560975609756	71	0.19613259668508287	46	0.08041958041958042	131	0.17282321899736147	C	16.46	3.130284	0.56721	0.028262	0.13647	ENSG00000180730	ENST00000319420	T	0.44083	0.93	4.3	3.44	0.39384	.	0.145388	0.46758	D	0.000272	T	0.00039	0.0001	N	0.21373	0.66	0.27138	P	0.9617204	B	0.15473	0.013	B	0.17098	0.017	T	0.13202	-1.0518	9	0.32370	T	0.25	-19.9823	4.0104	0.09619	0.1679:0.5801:0.1626:0.0894	.	60	Q6UWI4	SHSA2_HUMAN	D	60	ENSP00000313079:G60D	ENSP00000313079:G60D	G	-	2	0	SHISA2	25522935	0.533000	0.26354	1.000000	0.80357	0.998000	0.95712	0.416000	0.21198	1.014000	0.39417	0.555000	0.69702	GGC		0.741	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		T	26624935	C	T	26624935	3	4	58	1	0	0	0	0	1	0	0	0	14286	739	26	2	716	2	SHISA2	13	26624935	Missense_Mutation	SNP	C	TCGA-A3-3385-01A-02D-1421-08		26624935	88544943	44	4163											
NDRG2	57447	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21486946	21486946	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr14:21486946G>T	ENST00000556147.1	-	12	1729	c.789C>A	c.(787-789)gaC>gaA	p.D263E	NDRG2_ENST00000554143.1_Missense_Mutation_p.D249E|NDRG2_ENST00000397856.3_Missense_Mutation_p.D249E|NDRG2_ENST00000554104.1_Missense_Mutation_p.D176E|NDRG2_ENST00000397851.2_Missense_Mutation_p.D263E|NDRG2_ENST00000298687.5_Missense_Mutation_p.D263E|NDRG2_ENST00000397844.2_Missense_Mutation_p.D249E|NDRG2_ENST00000397847.2_Intron|NDRG2_ENST00000360463.3_Missense_Mutation_p.D249E|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000350792.3_Missense_Mutation_p.D249E|NDRG2_ENST00000397853.3_Missense_Mutation_p.D263E|NDRG2_ENST00000403829.3_Missense_Mutation_p.D259E|NDRG2_ENST00000397855.3_Missense_Mutation_p.D220E|NDRG2_ENST00000397858.1_Missense_Mutation_p.D263E|NDRG2_ENST00000555158.1_Missense_Mutation_p.D249E|NDRG2_ENST00000298684.5_Missense_Mutation_p.D220E|NDRG2_ENST00000553503.1_Missense_Mutation_p.D249E			Q9UN36	NDRG2_HUMAN	NDRG family member 2	263					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)		p.D263E(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAGGTGCTTGGTCTCCTACCA	0.552																																																1	Substitution - Missense(1)	kidney(1)											132	106	115					14																	21486946		2203	4300	6503	SO:0001583	missense	57447			AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.789C>A	14.37:g.21486946G>T	ENSP00000451712:p.Asp263Glu		B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Missense_Mutation	SNP	ENST00000556147.1	37	CCDS9565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.248275|4.248275	0.80024|0.80024	.|.	.|.	ENSG00000165795|ENSG00000165795	ENST00000298687;ENST00000350792;ENST00000554770;ENST00000397858;ENST00000554104;ENST00000555158;ENST00000553503;ENST00000397853;ENST00000360463;ENST00000556147;ENST00000554143;ENST00000397851;ENST00000397856;ENST00000397855;ENST00000298684;ENST00000397844;ENST00000403829;ENST00000556008;ENST00000556366;ENST00000556974;ENST00000555026|ENST00000553593	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.27557|.	1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;2.17;2.17;1.66;1.66;1.66;1.66;1.66;1.66|.	5.92|5.92	5.03|5.03	0.67393|0.67393	.|.	0.091884|.	0.64402|.	D|.	0.000001|.	T|T	0.62829|0.62829	0.2460|0.2460	L|L	0.52823|0.52823	1.66|1.66	0.54753|0.54753	D|D	0.999986|0.999986	P;P;P;D;D|.	0.65815|.	0.911;0.891;0.891;0.966;0.995|.	P;B;B;P;P|.	0.59703|.	0.485;0.352;0.352;0.594;0.862|.	T|T	0.60905|0.60905	-0.7170|-0.7170	10|5	0.87932|.	D|.	0|.	-22.8774|-22.8774	12.7625|12.7625	0.57372|0.57372	0.0789:0.0:0.9211:0.0|0.0789:0.0:0.9211:0.0	.|.	259;249;244;263;220|.	B4DE86;Q9UN36-5;G3V3N4;Q9UN36;Q9UN36-4|.	.;.;.;NDRG2_HUMAN;.|.	E|N	263;249;244;263;176;249;249;263;249;263;249;263;249;220;220;249;259;249;176;249;249|179	ENSP00000298687:D263E;ENSP00000344620:D249E;ENSP00000380956:D263E;ENSP00000452216:D176E;ENSP00000452038:D249E;ENSP00000452306:D249E;ENSP00000380951:D263E;ENSP00000353649:D249E;ENSP00000451712:D263E;ENSP00000452006:D249E;ENSP00000380949:D263E;ENSP00000380954:D249E;ENSP00000380953:D220E;ENSP00000298684:D220E;ENSP00000380943:D249E;ENSP00000385889:D259E;ENSP00000451966:D249E;ENSP00000452413:D176E;ENSP00000452362:D249E;ENSP00000451274:D249E|.	ENSP00000298684:D220E|.	D|T	-|-	3|2	2|0	NDRG2|NDRG2	20556786|20556786	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.139000|2.139000	0.42149|0.42149	1.509000|1.509000	0.48786|0.48786	0.655000|0.655000	0.94253|0.94253	GAC|ACC		0.552	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1			T	21486946	G	T	21486946	3	4	58	1	0	0	0	0	1	0	0	0	10254	1252	44	4	346	4	NDRG2	14	21486946	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08		21486946	85862594	45	4164											
GTF2A1	2957	broad.mit.edu;hgsc.bcm.edu	37	14	81659180	81659180	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr14:81659180G>T	ENST00000553612.1	-	7	1019	c.616C>A	c.(616-618)Ctg>Atg	p.L206M	GTF2A1_ENST00000434192.2_Missense_Mutation_p.L167M	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	206					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.L206M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		AGAGGAGCCAGCACCTAAAGC	0.408																																																1	Substitution - Missense(1)	kidney(1)											85	86	86					14																	81659180		2203	4300	6503	SO:0001583	missense	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.616C>A	14.37:g.81659180G>T	ENSP00000452454:p.Leu206Met		Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934748	0.52866	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.43294	0.95;0.95	5.2	-1.81	0.07882	.	0.000000	0.64402	D	0.000001	T	0.50188	0.1601	L	0.52364	1.645	0.58432	D	0.999994	D	0.69078	0.997	D	0.79108	0.992	T	0.42361	-0.9456	10	0.34782	T	0.22	-10.9721	10.5105	0.44860	0.7478:0.0:0.2522:0.0	.	206	P52655	TF2AA_HUMAN	M	206;167;167	ENSP00000452454:L206M;ENSP00000409492:L167M	ENSP00000298173:L206M	L	-	1	2	GTF2A1	80728933	0.059000	0.20769	0.190000	0.23270	0.988000	0.76386	0.361000	0.20267	-0.180000	0.10637	0.655000	0.94253	CTG		0.408	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		T	81659180	G	T	81659180	3	4	58	1	0	0	0	0	1	0	0	0	6854	962	34	4	526	4	GTF2A1	14	81659180	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08	60172234	81659180	25690360	46	4165											
C15orf52	388115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40628801	40628801	+	Silent	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr15:40628801C>T	ENST00000559313.1	-	9	1008	c.993G>A	c.(991-993)aaG>aaA	p.K331K	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_Silent_p.K121K	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	331							poly(A) RNA binding (GO:0044822)	p.K331K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCAGCCTCTCCTTGCCCCGGG	0.642																																																1	Substitution - coding silent(1)	kidney(1)											83	79	80					15																	40628801		2203	4300	6503	SO:0001819	synonymous_variant	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.993G>A	15.37:g.40628801C>T			B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Silent	SNP	ENST00000559313.1	37	CCDS10055.2																																																																																				0.642	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		T	40628801	C	T	40628801	2	4	58	1	0	0	0	0	0	0	0	1	1802	680	24	2		2	C15orf52	15	40628801	Silent	SNP	C	TCGA-A3-3385-01A-02D-1421-08		40628801	61902591	47	4166											
TNK1	8711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7291994	7291994	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr17:7291994G>A	ENST00000576812.1	+	11	2131	c.1762G>A	c.(1762-1764)Gat>Aat	p.D588N	TNK1_ENST00000570896.1_Missense_Mutation_p.D583N|TNK1_ENST00000311668.2_Missense_Mutation_p.D583N	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1									p.D588Y(1)|p.D588N(1)		central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCTCTTGTCCGATCCTGAGTT	0.592																																																2	Substitution - Missense(2)	kidney(2)											39	43	42					17																	7291994		1920	4147	6067	SO:0001583	missense	8711			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1762G>A	17.37:g.7291994G>A	ENSP00000459799:p.Asp588Asn			Missense_Mutation	SNP	ENST00000576812.1	37	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167693	0.38315	.	.	ENSG00000174292	ENST00000311668	T	0.77620	-1.11	5.0	0.96	0.19631	.	0.414645	0.20788	N	0.085680	T	0.82125	0.4969	L	0.54323	1.7	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.985	T	0.71994	-0.4424	10	0.59425	D	0.04	.	8.7905	0.34848	0.274:0.0:0.726:0.0	.	583;588	Q13470-2;Q13470	.;TNK1_HUMAN	N	583	ENSP00000312309:D583N	ENSP00000312309:D583N	D	+	1	0	TNK1	7232718	0.908000	0.30866	0.003000	0.11579	0.358000	0.29455	1.707000	0.37888	0.014000	0.14944	-0.302000	0.09304	GAT		0.592	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		A	7291994	G	A	7291994	3	1	58	1	0	0	0	0	1	0	0	0	16322	1058	37	1	1785	1	TNK1	17	7291994	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08		7291994	73903216	48	4167											
MYH2	4620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10447217	10447217	+	Splice_Site	SNP	A	A	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr17:10447217A>T	ENST00000245503.5	-	7	1033		c.e7+1		MYH2_ENST00000397183.2_Splice_Site|MYH2_ENST00000532183.2_Splice_Site|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						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)	p.?(1)		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						AATCAGACTCACCTGTATTTT	0.478																																																1	Unknown(1)	kidney(1)											91	82	85					17																	10447217		2203	4300	6503	SO:0001630	splice_region_variant	4620				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.648+1T>A	17.37:g.10447217A>T			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.981168	0.34942	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9948	0.47569	0.8441:0.1559:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2	10387942	0.994000	0.37717	0.973000	0.42090	0.269000	0.26545	3.816000	0.55658	2.119000	0.64992	0.533000	0.62120	.		0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	Intron	T	10447217	A	T	10447217	5	4	58	1	0	0	0	0	0	0	1	0	10037	173	6	5	5311	5	MYH2	17	10447217	Splice_Site	SNP	A	TCGA-A3-3385-01A-02D-1421-08	3155223	10447217	70747993	49	4168											
MYH3	4621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10535182	10535182	+	Missense_Mutation	SNP	G	G	A	rs546075871	byFrequency	TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr17:10535182G>A	ENST00000583535.1	-	35	5195	c.5108C>T	c.(5107-5109)gCg>gTg	p.A1703V	MYH3_ENST00000226209.7_Missense_Mutation_p.A1703V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1703					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.A1703V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCCTGTTCCGCCAGTTTCCG	0.647													G|||	5	0.000998403	0.0023	0.0	5008	,	,		18019	0.0		0.0	False		,,,				2504	0.002															1	Substitution - Missense(1)	kidney(1)											57	59	58					17																	10535182		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5108C>T	17.37:g.10535182G>A	ENSP00000464317:p.Ala1703Val		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457836	0.63401	.	.	ENSG00000109063	ENST00000226209	D	0.82984	-1.67	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.89054	0.6606	M	0.90483	3.12	0.53688	D	0.99997	P	0.34977	0.478	B	0.41723	0.365	D	0.90500	0.4473	9	0.72032	D	0.01	.	18.8204	0.92094	0.0:0.0:1.0:0.0	.	1703	P11055	MYH3_HUMAN	V	1703	ENSP00000226209:A1703V	ENSP00000226209:A1703V	A	-	2	0	MYH3	10475907	1.000000	0.71417	0.597000	0.28824	0.179000	0.23085	9.607000	0.98328	2.734000	0.93682	0.655000	0.94253	GCG		0.647	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		A	10535182	G	A	10535182	3	1	58	1	0	0	0	0	1	0	0	0	10038	1087	38	1	742	1	MYH3	17	10535182	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08	87965	10535182	70660028	50	4169											
ERBB2	2064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37876087	37876087	+	Splice_Site	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr17:37876087G>C	ENST00000269571.5	+	16	2105	c.1946G>C	c.(1945-1947)aGc>aCc	p.S649T	ERBB2_ENST00000584450.1_Splice_Site_p.S649T|ERBB2_ENST00000584601.1_Splice_Site_p.S619T|ERBB2_ENST00000406381.2_Splice_Site_p.S619T|ERBB2_ENST00000540147.1_Splice_Site_p.S619T|ERBB2_ENST00000541774.1_Splice_Site_p.S634T|ERBB2_ENST00000445658.2_Splice_Site_p.S373T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	649					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S649T(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAGAGAGCCAGGTTGGCCTGG	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	1	Substitution - Missense(1)	kidney(1)											154	131	139					17																	37876087		2203	4300	6503	SO:0001630	splice_region_variant	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1946+1G>C	17.37:g.37876087G>C			B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755721	0.31046	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.76186	-1.0;-1.0;-0.98;-1.0;-1.0	5.39	5.39	0.77823	Cytochrome c1, transmembrane anchor, C-terminal (1);	.	.	.	.	T	0.80639	0.4661	L	0.55481	1.735	0.80722	D	1	B;D;B	0.57899	0.435;0.981;0.435	B;P;B	0.56434	0.141;0.798;0.141	T	0.77859	-0.2431	9	0.30854	T	0.27	.	18.7559	0.91832	0.0:0.0:1.0:0.0	.	373;634;649	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	T	619;634;373;649;619	ENSP00000385185:S619T;ENSP00000446466:S634T;ENSP00000404047:S373T;ENSP00000269571:S649T;ENSP00000443562:S619T	ENSP00000269571:S649T	S	+	2	0	ERBB2	35129613	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	7.031000	0.76491	2.517000	0.84864	0.563000	0.77884	AGC		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		Missense_Mutation	C	37876087	G	C	37876087	5	2	58	1	0	0	0	0	0	0	1	0	5208	1014	35	4	2008	4	ERBB2	17	37876087	Splice_Site	SNP	G	TCGA-A3-3385-01A-02D-1421-08	27340905	37876087	43319123	51	4170											
MIDN	90007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1257108	1257108	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:1257108C>T	ENST00000591446.2	+	7	1653	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	MIDN_ENST00000300952.2_Missense_Mutation_p.P415L|CIRBP_ENST00000588030.1_5'Flank			Q504T8	MIDN_HUMAN	midnolin	415						cytosol (GO:0005829)|nucleolus (GO:0005730)		p.P415L(1)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGGGGTCCGTACCACTGG	0.706																																																1	Substitution - Missense(1)	kidney(1)											15	19	17					19																	1257108		2198	4283	6481	SO:0001583	missense	90007			AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1244C>T	19.37:g.1257108C>T	ENSP00000467679:p.Pro415Leu		Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	c	19.94	3.919878	0.73098	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.44	3.44	0.39384	.	0.065886	0.64402	U	0.000008	T	0.77267	0.4105	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81097	-0.1087	9	0.87932	D	0	-20.4334	13.6033	0.62033	0.0:1.0:0.0:0.0	.	415	Q504T8	MIDN_HUMAN	L	415	.	ENSP00000300952:P415L	P	+	2	0	MIDN	1208108	1.000000	0.71417	0.982000	0.44146	0.249000	0.25844	6.646000	0.74348	1.756000	0.51951	0.486000	0.48141	CCG		0.706	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			T	1257108	C	T	1257108	3	4	58	1	0	0	0	0	1	0	0	0	9581	652	23	1	1270	1	MIDN	19	1257108	Missense_Mutation	SNP	C	TCGA-A3-3385-01A-02D-1421-08		1257108	57871875	52	4171											
NOTCH3	4854	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15298087	15298087	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:15298087C>A	ENST00000263388.2	-	11	1744	c.1669G>T	c.(1669-1671)Ggt>Tgt	p.G557C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	557	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G557C(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGCAGCGACCATGGTGGCAT	0.652																																																2	Substitution - Missense(2)	kidney(2)											79	64	69					19																	15298087		2203	4300	6503	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1669G>T	19.37:g.15298087C>A	ENSP00000263388:p.Gly557Cys		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453697	0.84209	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.97480	-4.4	4.51	4.51	0.55191	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99293	0.9753	H	0.99800	4.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98150	1.0441	9	0.87932	D	0	.	16.3643	0.83308	0.0:1.0:0.0:0.0	.	560;557	Q59FL3;Q9UM47	.;NOTC3_HUMAN	C	557;559	ENSP00000263388:G557C	ENSP00000263388:G557C	G	-	1	0	NOTCH3	15159087	0.999000	0.42202	0.995000	0.50966	0.815000	0.46073	4.877000	0.63086	2.215000	0.71742	0.655000	0.94253	GGT		0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		A	15298087	C	A	15298087	3	1	58	1	0	0	0	0	1	0	0	0	10552	594	21	4	5388	4	NOTCH3	19	15298087	Missense_Mutation	SNP	C	TCGA-A3-3385-01A-02D-1421-08	14040979	15298087	43830896	53	4172											
ZFP82	284406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36884269	36884269	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:36884269G>C	ENST00000392161.3	-	5	1215	c.973C>G	c.(973-975)Ctt>Gtt	p.L325V	ZFP82_ENST00000392171.1_Missense_Mutation_p.L325V	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L325V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTACTCTAAGACCAGAGCCA	0.458																																																1	Substitution - Missense(1)	kidney(1)											113	114	113					19																	36884269		2203	4300	6503	SO:0001583	missense	284406			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.973C>G	19.37:g.36884269G>C	ENSP00000431265:p.Leu325Val		Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300642	0.40694	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.52983	0.64;0.64	4.38	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.204840	0.24628	N	0.036920	T	0.65365	0.2684	M	0.78285	2.405	0.20764	N	0.999858	D	0.89917	1.0	D	0.91635	0.999	T	0.55579	-0.8119	10	0.87932	D	0	.	8.768	0.34715	0.1854:0.0:0.8146:0.0	.	325	Q8N141	ZFP82_HUMAN	V	325	ENSP00000431265:L325V;ENSP00000446080:L325V	ENSP00000431265:L325V	L	-	1	0	ZFP82	41576109	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.461000	0.53035	1.203000	0.43233	0.655000	0.94253	CTT		0.458	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		C	36884269	G	C	36884269	3	2	58	1	0	0	0	0	1	0	0	0	17658	942	33	4	629	4	ZFP82	19	36884269	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08	21586182	36884269	22244714	54	4173											
ZNF260	339324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37005751	37005751	+	Silent	SNP	A	A	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:37005751A>G	ENST00000523638.1	-	3	1511	c.390T>C	c.(388-390)caT>caC	p.H130H	ZNF260_ENST00000588993.1_Silent_p.H130H|ZNF260_ENST00000592282.1_Silent_p.H130H|ZNF260_ENST00000593142.1_Silent_p.H130H	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	130					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H130H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TGGTTCCTGTATGATTTTTCT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											160	159	159					19																	37005751		2203	4300	6503	SO:0001819	synonymous_variant	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.390T>C	19.37:g.37005751A>G			Q0VF43	Silent	SNP	ENST00000523638.1	37	CCDS33003.1																																																																																				0.388	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		G	37005751	A	G	37005751	2	3	58	1	0	0	0	0	0	0	0	1	17807	446	16	3		3	ZNF260	19	37005751	Silent	SNP	A	TCGA-A3-3385-01A-02D-1421-08	121482	37005751	22123232	55	4174											
PRX	57716	broad.mit.edu	37	19	40900148	40900148	+	Silent	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:40900148G>T	ENST00000324001.7	-	7	4381	c.4111C>A	c.(4111-4113)Cgg>Agg	p.R1371R	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1371					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1371R(1)		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)			ACCCGGCCCCGGCGACCCGAG	0.701																																																1	Substitution - coding silent(1)	kidney(1)											18	22	21					19																	40900148		2198	4290	6488	SO:0001819	synonymous_variant	57716			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.4111C>A	19.37:g.40900148G>T			Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	CCDS33028.1																																																																																				0.701	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		T	40900148	G	T	40900148	2	4	58	1	0	0	0	0	0	0	0	1	12647	1115	39	4		4	PRX	19	40900148	Silent	SNP	G	TCGA-A3-3385-01A-02D-1421-08	3894397	40900148	18228835	56	4175											
GPR4	2828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46094848	46094848	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:46094848A>T	ENST00000323040.4	-	2	1221	c.277T>A	c.(277-279)Ttt>Att	p.F93I	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	93					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F93I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ATGAACCCAAAGAGCTTGCAG	0.602																																					Esophageal Squamous(117;181 1612 1673 14956 42937)											1	Substitution - Missense(1)	kidney(1)											107	108	108					19																	46094848		2203	4300	6503	SO:0001583	missense	2828			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.277T>A	19.37:g.46094848A>T	ENSP00000319744:p.Phe93Ile		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985866	0.74589	.	.	ENSG00000177464	ENST00000323040	T	0.37058	1.22	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.37732	0.1014	N	0.21142	0.635	0.44762	D	0.99776	D	0.55172	0.97	P	0.57324	0.818	T	0.08848	-1.0702	10	0.17369	T	0.5	.	13.3858	0.60795	1.0:0.0:0.0:0.0	.	93	P46093	GPR4_HUMAN	I	93	ENSP00000319744:F93I	ENSP00000319744:F93I	F	-	1	0	GPR4	50786688	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.487000	0.53222	2.044000	0.60594	0.374000	0.22700	TTT		0.602	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		T	46094848	A	T	46094848	3	4	58	1	0	0	0	0	1	0	0	0	6696	72	3	5	815	5	GPR4	19	46094848	Missense_Mutation	SNP	A	TCGA-A3-3385-01A-02D-1421-08	5194700	46094848	13034135	57	4176											
CCDC9	26093	hgsc.bcm.edu	37	19	47774666	47774668	+	In_Frame_Del	DEL	GAG	GAG	-	rs138370983|rs79550409|rs373093080	byFrequency	TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:47774666_47774668delGAG	ENST00000221922.6	+	12	1549_1551	c.1327_1329delGAG	c.(1327-1329)gagdel	p.E445del		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	445	Glu-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		agaaggtgatgaggaggaACCAG	0.606														552	0.110224	0.034	0.1844	5008	,	,		16057	0.0903		0.0895	False		,,,				2504	0.2025															0										208,4056		4,200,1928						-8.6	0		dbSNP_134	113	947,7301		59,829,3236	no	coding	CCDC9	NM_015603.2		63,1029,5164	A1A1,A1R,RR		11.4816,4.878,9.2311				1155,11357				SO:0001651	inframe_deletion	26093			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1327_1329delGAG	19.37:g.47774669_47774671delGAG	ENSP00000221922:p.Glu445del			In_Frame_Del	DEL	ENST00000221922.6	37	CCDS12698.1																																																																																				0.606	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		-	47774668	GAG	-	47774666	7	5	58	1	0	1	0	1	0	0	0	0	2869	1291	45	0	1369	0	CCDC9	19	47774666	In_Frame_Del	DEL	GAG	TCGA-A3-3385-01A-02D-1421-08	1679818	47774666	11354317	58	4177											
TUBB1	81027	broad.mit.edu;ucsc.edu	37	20	57598805	57598805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr20:57598805A>T	ENST00000217133.1	+	4	592	c.323A>T	c.(322-324)gAg>gTg	p.E108V		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	108					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E108V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CACTACACGGAGGGAGCCGAG	0.587																																																1	Substitution - Missense(1)	kidney(1)											83	91	88					20																	57598805		2203	4300	6503	SO:0001583	missense	81027			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.323A>T	20.37:g.57598805A>T	ENSP00000217133:p.Glu108Val			Missense_Mutation	SNP	ENST00000217133.1	37	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348492	0.61183	.	.	ENSG00000101162	ENST00000217133	T	0.66280	-0.2	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.82259	-0.0546	10	0.87932	D	0	.	14.5622	0.68148	1.0:0.0:0.0:0.0	.	108	Q9H4B7	TBB1_HUMAN	V	108	ENSP00000217133:E108V	ENSP00000217133:E108V	E	+	2	0	TUBB1	57032200	1.000000	0.71417	0.995000	0.50966	0.278000	0.26855	9.297000	0.96120	2.050000	0.60909	0.533000	0.62120	GAG		0.587	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		T	57598805	A	T	57598805	3	4	58	1	0	0	0	0	1	0	0	0	16758	304	11	5	337	5	TUBB1	20	57598805	Missense_Mutation	SNP	A	TCGA-A3-3385-01A-02D-1421-08		57598805	5426715	59	4178											
ZDHHC8	29801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	20127299	20127299	+	Silent	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr22:20127299C>A	ENST00000334554.7	+	4	582	c.441C>A	c.(439-441)cgC>cgA	p.R147R	ZDHHC8_ENST00000405930.3_Silent_p.R147R|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	147					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R147R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GAAACTATCGCTACTTCTTCC	0.617																																																1	Substitution - coding silent(1)	kidney(1)											107	87	94					22																	20127299		2203	4300	6503	SO:0001819	synonymous_variant	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.441C>A	22.37:g.20127299C>A			Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	ENST00000334554.7	37	CCDS13776.1																																																																																				0.617	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		A	20127299	C	A	20127299	2	1	58	1	0	0	0	0	0	0	0	1	17626	784	28	4		4	ZDHHC8	22	20127299	Silent	SNP	C	TCGA-A3-3385-01A-02D-1421-08		20127299	31177267	60	4179											
HMGXB4	10042	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	35659854	35659854	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr22:35659854delT	ENST00000216106.5	+	4	374	c.246delT	c.(244-246)gatfs	p.D82fs	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	82					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCTGATGATTACTACTATG	0.448																																																0													126	108	114					22																	35659854		2203	4300	6503	SO:0001589	frameshift_variant	10042			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.246delT	22.37:g.35659854delT	ENSP00000216106:p.Asp82fs		O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	ENST00000216106.5	37	CCDS33641.1																																																																																				0.448	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		-	35659854	T	-	35659854	7	5	58	1	0	1	0	1	0	0	0	0	7241	1490	52	0	256	0	HMGXB4	22	35659854	Frame_Shift_Del	DEL	T	TCGA-A3-3385-01A-02D-1421-08	15532555	35659854	15644712	61	4180											
LDOC1L	84247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	44893405	44893405	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr22:44893405C>T	ENST00000341255.3	-	2	541	c.32G>A	c.(31-33)aGc>aAc	p.S11N		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	11								p.S11N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CAAGGCTGGGCTTTCAGCTTT	0.642																																																1	Substitution - Missense(1)	kidney(1)											44	32	36					22																	44893405		2201	4297	6498	SO:0001583	missense	84247			CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.32G>A	22.37:g.44893405C>T	ENSP00000340434:p.Ser11Asn		Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756688	0.49362	.	.	ENSG00000188636	ENST00000341255	T	0.19669	2.13	2.95	-2.36	0.06663	.	.	.	.	.	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35226	-0.9797	9	0.27082	T	0.32	-0.7178	5.4911	0.16777	0.0:0.4829:0.232:0.2851	.	11	Q6ICC9	LDOCL_HUMAN	N	11	ENSP00000340434:S11N	ENSP00000340434:S11N	S	-	2	0	LDOC1L	43272069	0.038000	0.19896	0.004000	0.12327	0.757000	0.42996	0.160000	0.16462	-0.329000	0.08527	0.467000	0.42956	AGC		0.642	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		T	44893405	C	T	44893405	3	4	58	1	0	0	0	0	1	0	0	0	8712	797	28	2	691	2	LDOC1L	22	44893405	Missense_Mutation	SNP	C	TCGA-A3-3385-01A-02D-1421-08	9233551	44893405	6411161	62	4181											
MAP7D2	256714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	20081684	20081684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chrX:20081684G>A	ENST00000379651.3	-	3	238	c.220C>T	c.(220-222)Caa>Taa	p.Q74*	MAP7D2_ENST00000379643.5_Nonsense_Mutation_p.Q74*|MAP7D2_ENST00000452324.3_Nonsense_Mutation_p.Q30*|MAP7D2_ENST00000443379.3_Nonsense_Mutation_p.Q74*	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	74					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.Q74*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGGATCTGTTGCTCCCGAGCA	0.517																																																2	Substitution - Nonsense(2)	kidney(2)											101	86	91					X																	20081684		2203	4300	6503	SO:0001587	stop_gained	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.220C>T	X.37:g.20081684G>A	ENSP00000368972:p.Gln74*		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Nonsense_Mutation	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228372	0.95173	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000443379;ENST00000452324;ENST00000330274	.	.	.	5.87	4.99	0.66335	.	0.177886	0.39544	N	0.001338	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-17.4313	14.9748	0.71264	0.0:0.0:0.8561:0.1439	.	.	.	.	X	74;74;74;30;74	.	ENSP00000332677:Q74X	Q	-	1	0	MAP7D2	19991605	0.315000	0.24571	0.820000	0.32676	0.522000	0.34438	1.424000	0.34848	1.194000	0.43101	0.594000	0.82650	CAA		0.517	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		A	20081684	G	A	20081684	4	1	58	1	0	0	0	0	0	1	0	0	9270	1328	46	2	2157	2	MAP7D2	23	20081684	Nonsense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08		20081684	135188876	63	4182											
GPR174	84636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	78427224	78427224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chrX:78427224delA	ENST00000276077.1	+	1	756	c.720delA	c.(718-720)ctafs	p.L240fs		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GGGTATTCCTAATTTGCTTTG	0.393										HNSCC(63;0.18)																																						0													105	96	99					X																	78427224		2203	4300	6503	SO:0001589	frameshift_variant	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.720delA	X.37:g.78427224delA	ENSP00000276077:p.Leu240fs		Q2M3F7	Frame_Shift_Del	DEL	ENST00000276077.1	37	CCDS14443.1																																																																																				0.393	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		-	78427224	A	-	78427224	7	5	58	1	0	1	0	1	0	0	0	0	6674	349	13	0	722	0	GPR174	23	78427224	Frame_Shift_Del	DEL	A	TCGA-A3-3385-01A-02D-1421-08	58345540	78427224	76843336	64	4183											
ZCCHC12	170261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	117960298	117960298	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chrX:117960298G>T	ENST00000310164.2	+	4	1598	c.1091G>T	c.(1090-1092)aGt>aTt	p.S364I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	364					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S364I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GACAACGAGAGTGACAAGGCC	0.512																																																1	Substitution - Missense(1)	kidney(1)											100	84	89					X																	117960298		2203	4300	6503	SO:0001583	missense	170261			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1091G>T	X.37:g.117960298G>T	ENSP00000308921:p.Ser364Ile		B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	8.509	0.865980	0.17250	.	.	ENSG00000174460	ENST00000310164	T	0.76448	-1.02	3.3	2.43	0.29744	Zinc finger, CCHC retroviral-type (1);	0.241071	0.22326	N	0.061526	T	0.78033	0.4220	M	0.75447	2.3	0.23975	N	0.996294	P	0.44429	0.835	P	0.47705	0.555	T	0.70124	-0.4958	10	0.87932	D	0	-6.2759	5.4215	0.16403	0.1572:0.0:0.8428:0.0	.	364	Q6PEW1	ZCH12_HUMAN	I	364	ENSP00000308921:S364I	ENSP00000308921:S364I	S	+	2	0	ZCCHC12	117844326	0.018000	0.18449	0.575000	0.28536	0.035000	0.12851	0.284000	0.18864	0.768000	0.33290	0.600000	0.82982	AGT		0.512	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		T	117960298	G	T	117960298	3	4	58	1	0	0	0	0	1	0	0	0	17586	1029	36	4	1093	4	ZCCHC12	23	117960298	Missense_Mutation	SNP	G	TCGA-A3-3385-01A-02D-1421-08	39533074	117960298	37310262	65	4184											
PRRG3	79057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	150868604	150868604	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chrX:150868604A>T	ENST00000370353.3	+	3	534	c.144A>T	c.(142-144)gaA>gaT	p.E48D	PRRG3_ENST00000370354.1_Missense_Mutation_p.E56D|PRRG3_ENST00000538575.1_Missense_Mutation_p.E48D			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	48	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.E48D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCAAGGAAGTGTTTGAGA	0.552																																																1	Substitution - Missense(1)	kidney(1)											76	71	73					X																	150868604		2203	4300	6503	SO:0001583	missense	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.144A>T	X.37:g.150868604A>T	ENSP00000359378:p.Glu48Asp		A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891934	0.72524	.	.	ENSG00000130032	ENST00000448726;ENST00000538575;ENST00000370354;ENST00000370353	D;D;D;D	0.99730	-6.56;-6.56;-6.56;-6.56	4.5	1.6	0.23607	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.91768	3.24	0.40914	D	0.984256	D	0.76494	0.999	D	0.70227	0.968	D	0.99799	1.1035	10	0.87932	D	0	-22.565	6.376	0.21507	0.4892:0.0:0.5108:0.0	.	48	Q9BZD7	TMG3_HUMAN	D	48;48;56;48	ENSP00000411509:E48D;ENSP00000440217:E48D;ENSP00000359379:E56D;ENSP00000359378:E48D	ENSP00000359378:E48D	E	+	3	2	PRRG3	150619260	0.980000	0.34600	1.000000	0.80357	0.981000	0.71138	0.446000	0.21694	0.335000	0.23614	-0.395000	0.06472	GAA		0.552	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		T	150868604	A	T	150868604	3	4	58	1	0	0	0	0	1	0	0	0	12612	69	3	5	150	5	PRRG3	23	150868604	Missense_Mutation	SNP	A	TCGA-A3-3385-01A-02D-1421-08	32908306	150868604	4401956	66	4185											
PPP1R13B	23368	hgsc.bcm.edu	37	14	104206456	104206456	+	Frame_Shift_Del	DEL	T	T	-	rs370404525		TCGA-A3-3385-01A-02W-1475-10	TCGA-A3-3385-11A-01W-1475-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	b1764a44-9403-49f3-bc2b-058664033927	d39be864-eb2d-4c56-8179-a567e6ad49c0	g.chr14:104206456delT	ENST00000202556.9	-	12	2579	c.2297delA	c.(2296-2298)aatfs	p.N766fs	PPP1R13B_ENST00000423488.2_Frame_Shift_Del_p.N185fs|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	766	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CAGGTTTCCATTGGCATTGGT	0.617																																																0													72	86	81					14																	104206456		1984	4142	6126	SO:0001589	frameshift_variant	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2297delA	14.37:g.104206456delT	ENSP00000202556:p.Asn766fs		B2RMX5|O94870	Frame_Shift_Del	DEL	ENST00000202556.9	37	CCDS41997.1																																																																																				0.617	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		-	104206456	T	-	104206456	7	5	59	1	0	1	0	1	0	0	0	0	12362	1493	52	0	999	0	PPP1R13B	14	104206456	Frame_Shift_Del	DEL	T	TCGA-A3-3385-01A-02W-1475-10		104206456	3143084	1	4186											
UBE2J2	118424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1198752	1198752	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:1198752C>T	ENST00000349431.6	-	3	365	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	UBE2J2_ENST00000400929.2_5'UTR|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000339385.6_Missense_Mutation_p.R14Q|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000400930.4_Missense_Mutation_p.R65Q|UBE2J2_ENST00000360466.2_Missense_Mutation_p.R49Q	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	49					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.R65Q(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CTCTGGGCCTCGGACGACATA	0.448																																																1	Substitution - Missense(1)	kidney(1)											174	189	184					1																	1198752		2203	4300	6503	SO:0001583	missense	118424			AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"Ubiquitin-conjugating enzymes E2"	19268	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.146G>A	1.37:g.1198752C>T	ENSP00000305826:p.Arg49Gln		A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	ENST00000349431.6	37	CCDS14.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524299	0.27299	.	.	ENSG00000160087	ENST00000349431;ENST00000339385;ENST00000360466;ENST00000400930;ENST00000435198;ENST00000422076;ENST00000502382	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.21	5.21	0.72293	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	L	0.33668	1.02	0.80722	D	1	P;P;P	0.51933	0.538;0.949;0.943	B;B;B	0.41088	0.24;0.221;0.347	T	0.16305	-1.0407	10	0.41790	T	0.15	-2.4068	18.1056	0.89519	0.0:1.0:0.0:0.0	.	65;49;82	A8MYC7;Q8N2K1;B1AME9	.;UB2J2_HUMAN;.	Q	49;14;49;65;49;65;49	ENSP00000305826:R49Q;ENSP00000340197:R14Q;ENSP00000353653:R49Q;ENSP00000383719:R65Q;ENSP00000393301:R49Q;ENSP00000401898:R65Q;ENSP00000424342:R49Q	ENSP00000340197:R14Q	R	-	2	0	UBE2J2	1188615	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.259000	0.78381	2.579000	0.87056	0.655000	0.94253	CGA		0.448	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	NM_058167		T	1198752	C	T	1198752	3	4	60	1	0	0	0	0	1	0	0	0	16866	884	31	1	653	1	UBE2J2	1	1198752	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10		1198752	248051869	1	4187											
UBE4B	10277	broad.mit.edu;ucsc.edu	37	1	10221342	10221342	+	Missense_Mutation	SNP	C	C	T	rs371058351		TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:10221342C>T	ENST00000253251.8	+	22	3648	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	UBE4B_ENST00000343090.6_Missense_Mutation_p.R1066W|RNU6-828P_ENST00000364876.1_RNA|UBE4B_ENST00000377157.3_Missense_Mutation_p.R821W					ubiquitination factor E4B									p.R937W(1)|p.R1066W(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCAGTTGCCCCGGGTGAGGAC	0.542																																																2	Substitution - Missense(2)	kidney(2)						C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	73	65	68		3196,2809	4.5	1	1		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UBE4B	NM_001105562.2,NM_006048.4	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1066/1303,937/1174	10221342	1,13005	2203	4300	6503	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2809C>T	1.37:g.10221342C>T	ENSP00000253251:p.Arg937Trp			Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952055	0.73787	0.0	1.16E-4	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.48201	0.82;0.82;0.82	5.39	4.48	0.54585	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	L	0.55481	1.735	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.952	T	0.65302	-0.6201	10	0.72032	D	0.01	-20.1455	13.3614	0.60659	0.4077:0.5923:0.0:0.0	.	1066;937	O95155;O95155-2	UBE4B_HUMAN;.	W	937;821;1066	ENSP00000253251:R937W;ENSP00000366362:R821W;ENSP00000343001:R1066W	ENSP00000253251:R937W	R	+	1	2	UBE4B	10143929	0.344000	0.24827	0.999000	0.59377	0.968000	0.65278	0.886000	0.28241	1.266000	0.44231	0.557000	0.71058	CGG		0.542	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		T	10221342	C	T	10221342	3	4	60	1	0	0	0	0	1	0	0	0	16888	643	23	1	3286	1	UBE4B	1	10221342	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	9022590	10221342	239029279	2	4188											
PADI6	353238	broad.mit.edu;ucsc.edu	37	1	17720899	17720899	+	RNA	SNP	G	G	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:17720899G>A	ENST00000434762.2	+	0	1337							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.G428E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGGTCCAAGGGAAAGAGTAC	0.547																																																1	Substitution - Missense(1)	kidney(1)											34	35	35					1																	17720899		1938	4135	6073			353238			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720899G>A			Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37																																																																																					0.547	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		A	17720899	G	A	17720899	1	1	60	0	1	0	0	0	0	0	0	0	11383	1232	43	2		2	PADI6	1	17720899	RNA	SNP	G	TCGA-A3-3387-01A-01D-1534-10	7499557	17720899	231529722	3	4189											
AHDC1	27245	broad.mit.edu;ucsc.edu	37	1	27874531	27874531	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:27874531C>T	ENST00000247087.5	-	5	4692	c.4096G>A	c.(4096-4098)Gac>Aac	p.D1366N	AHDC1_ENST00000374011.2_Missense_Mutation_p.D1366N			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1366							DNA binding (GO:0003677)	p.D1366N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGGGCGAGTCGCAGTGGAAG	0.632																																																1	Substitution - Missense(1)	kidney(1)											75	69	71					1																	27874531		2203	4300	6503	SO:0001583	missense	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4096G>A	1.37:g.27874531C>T	ENSP00000247087:p.Asp1366Asn		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782243	0.70222	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.58358	0.34;0.34	5.69	5.69	0.88448	.	0.062070	0.64402	D	0.000007	T	0.61123	0.2322	N	0.24115	0.695	0.45567	D	0.998514	D	0.76494	0.999	D	0.68353	0.957	T	0.64377	-0.6422	10	0.66056	D	0.02	-20.037	18.5868	0.91192	0.0:1.0:0.0:0.0	.	1366	Q5TGY3	AHDC1_HUMAN	N	1366	ENSP00000247087:D1366N;ENSP00000363123:D1366N	ENSP00000247087:D1366N	D	-	1	0	AHDC1	27747118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.245000	0.58734	2.699000	0.92147	0.655000	0.94253	GAC		0.632	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			T	27874531	C	T	27874531	3	4	60	1	0	0	0	0	1	0	0	0	412	884	31	1	719	1	AHDC1	1	27874531	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	10153632	27874531	221376090	4	4190											
ZSCAN20	7579	broad.mit.edu;ucsc.edu	37	1	33960693	33960693	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:33960693A>G	ENST00000361328.3	+	8	2902	c.2749A>G	c.(2749-2751)Acc>Gcc	p.T917A		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	917					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T917A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TAAGAGCTCCACCCTGGCCAA	0.512																																																1	Substitution - Missense(1)	kidney(1)											71	83	79					1																	33960693		2135	4263	6398	SO:0001583	missense	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2749A>G	1.37:g.33960693A>G	ENSP00000355053:p.Thr917Ala		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	5.841	0.339320	0.11069	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.194964	0.36338	N	0.002642	T	0.21509	0.0518	N	0.13235	0.315	0.09310	N	1	B;B	0.29270	0.053;0.24	B;B	0.39771	0.022;0.309	T	0.37361	-0.9709	9	0.06891	T	0.86	-4.1411	5.9744	0.19371	0.7495:0.1675:0.083:0.0	.	916;917	P17040-3;P17040	.;ZSC20_HUMAN	A	917;851;851	.	ENSP00000324450:T917A	T	+	1	0	ZSCAN20	33733280	0.000000	0.05858	0.995000	0.50966	0.998000	0.95712	0.228000	0.17814	0.946000	0.37632	0.533000	0.62120	ACC		0.512	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		G	33960693	A	G	33960693	3	3	60	1	0	0	0	0	1	0	0	0	18237	159	6	3	2775	3	ZSCAN20	1	33960693	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	6086162	33960693	215289928	5	4191											
C1orf94	84970	broad.mit.edu;ucsc.edu	37	1	34684328	34684328	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:34684328A>G	ENST00000488417.1	+	7	1883	c.1763A>G	c.(1762-1764)tAt>tGt	p.Y588C	C1orf94_ENST00000373374.3_Missense_Mutation_p.Y398C	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	588								p.Y588C(1)|p.Y398C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CACAGCCCCTATTTTTCTTCC	0.493																																																2	Substitution - Missense(2)	kidney(2)											128	124	126					1																	34684328		2203	4300	6503	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1763A>G	1.37:g.34684328A>G	ENSP00000435634:p.Tyr588Cys		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801739	0.70682	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.35421	1.37;1.31	5.32	5.32	0.75619	.	0.105857	0.42420	D	0.000706	T	0.57725	0.2073	M	0.70595	2.14	0.38548	D	0.94938	D	0.89917	1.0	D	0.91635	0.999	T	0.64748	-0.6334	10	0.72032	D	0.01	-24.0658	11.6755	0.51427	1.0:0.0:0.0:0.0	.	588	Q6P1W5	CA094_HUMAN	C	398;588	ENSP00000362472:Y398C;ENSP00000435634:Y588C	ENSP00000362472:Y398C	Y	+	2	0	C1orf94	34456915	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.922000	0.63404	2.013000	0.59113	0.533000	0.62120	TAT		0.493	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		G	34684328	A	G	34684328	3	3	60	1	0	0	0	0	1	0	0	0	2073	449	16	3	1789	3	C1orf94	1	34684328	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	723635	34684328	214566293	6	4192											
ZMYM1	79830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35578915	35578915	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:35578915T>A	ENST00000373330.1	+	11	1658	c.1484T>A	c.(1483-1485)tTt>tAt	p.F495Y	ZMYM1_ENST00000359858.4_Missense_Mutation_p.F495Y|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	495						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.F495Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAGAGTCATTTGCAACCCAC	0.353																																																1	Substitution - Missense(1)	kidney(1)											55	56	55					1																	35578915		1803	4073	5876	SO:0001583	missense	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1484T>A	1.37:g.35578915T>A	ENSP00000362427:p.Phe495Tyr		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342517	0.24339	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.26223	2.01;1.75;2.01	4.7	-0.707	0.11245	Zinc finger, TTF-type (1);	1.062970	0.07325	N	0.878299	T	0.28896	0.0717	M	0.78049	2.395	0.09310	N	1	B;B	0.18461	0.016;0.028	B;B	0.18263	0.021;0.021	T	0.36065	-0.9763	9	.	.	.	-1.1639	7.5826	0.27974	0.1339:0.0:0.4158:0.4503	.	476;495	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	Y	495;420;495	ENSP00000352920:F495Y;ENSP00000362426:F420Y;ENSP00000362427:F495Y	.	F	+	2	0	ZMYM1	35351502	0.163000	0.22920	0.001000	0.08648	0.201000	0.24016	0.157000	0.16402	-0.106000	0.12110	0.482000	0.46254	TTT		0.353	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		A	35578915	T	A	35578915	3	1	60	1	0	0	0	0	1	0	0	0	17704	1841	64	5	1518	5	ZMYM1	1	35578915	Missense_Mutation	SNP	T	TCGA-A3-3387-01A-01D-1534-10	894587	35578915	213671706	7	4193											
CSF3R	1441	broad.mit.edu;ucsc.edu	37	1	36939104	36939104	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:36939104C>G	ENST00000373106.1	-	6	1152	c.605G>C	c.(604-606)tGg>tCg	p.W202S	CSF3R_ENST00000418048.2_Missense_Mutation_p.W202S|CSF3R_ENST00000361632.4_Missense_Mutation_p.W202S|CSF3R_ENST00000373103.1_Missense_Mutation_p.W202S|CSF3R_ENST00000331941.5_Missense_Mutation_p.W202S|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000440588.2_Missense_Mutation_p.W202S|CSF3R_ENST00000338937.5_Missense_Mutation_p.W202S|CSF3R_ENST00000373104.1_Missense_Mutation_p.W202S	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	202	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.W202S(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCCTGCACCCAGATGCCCAT	0.602																																																2	Substitution - Missense(2)	kidney(2)											108	93	98					1																	36939104		2203	4300	6503	SO:0001583	missense	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.605G>C	1.37:g.36939104C>G	ENSP00000362198:p.Trp202Ser			Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167548	0.78339	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.52	5.52	0.82312	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.918670	0.03125	N	0.164321	T	0.66036	0.2749	M	0.75447	2.3	0.58432	D	0.999999	D;D;D;P	0.89917	1.0;1.0;0.999;0.916	D;D;D;B	0.73380	0.98;0.978;0.95;0.319	T	0.42378	-0.9455	10	0.29301	T	0.29	-9.825	16.5874	0.84731	0.0:1.0:0.0:0.0	.	202;202;202;202	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	S	202	ENSP00000362198:W202S;ENSP00000362196:W202S;ENSP00000362195:W202S;ENSP00000355406:W202S;ENSP00000332180:W202S;ENSP00000401588:W202S;ENSP00000345013:W202S;ENSP00000397568:W202S	ENSP00000332180:W202S	W	-	2	0	CSF3R	36711691	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.342000	0.43992	2.607000	0.88179	0.609000	0.83330	TGG		0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		G	36939104	C	G	36939104	3	3	60	1	0	0	0	0	1	0	0	0	3939	595	21	4	2143	4	CSF3R	1	36939104	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	1360189	36939104	212311517	8	4194											
GJA9	81025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39340771	39340771	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:39340771A>C	ENST00000360786.3	-	1	1252	c.1000T>G	c.(1000-1002)Tcc>Gcc	p.S334A	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.S334A|GJA9_ENST00000454994.2_Missense_Mutation_p.S334A|MYCBP_ENST00000397572.2_5'Flank|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	334					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.S334A(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTAAGTGTGGAAATCTCATTA	0.318																																																1	Substitution - Missense(1)	kidney(1)											77	80	79					1																	39340771		2203	4300	6503	SO:0001583	missense	81025			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1000T>G	1.37:g.39340771A>C	ENSP00000354020:p.Ser334Ala		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	CCDS432.1	.	.	.	.	.	.	.	.	.	.	A	8.795	0.931573	0.18131	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97553	-4.43;-4.34;-4.34	5.03	-1.17	0.09648	.	.	.	.	.	D	0.87665	0.6234	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.79011	-0.1977	9	0.08837	T	0.75	.	2.0294	0.03526	0.3854:0.1338:0.3504:0.1304	.	334	P57773	CXA9_HUMAN	A	334	ENSP00000406846:S334A;ENSP00000350415:S334A;ENSP00000354020:S334A	ENSP00000350415:S334A	S	-	1	0	GJA9	39113358	0.000000	0.05858	0.000000	0.03702	0.664000	0.39144	-0.353000	0.07691	-0.151000	0.11176	0.533000	0.62120	TCC		0.318	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		C	39340771	A	C	39340771	3	2	60	1	0	0	0	0	1	0	0	0	6408	246	9	5	551	5	GJA9	1	39340771	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	2401667	39340771	209909850	9	4195											
ZNF684	127396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	41012841	41012841	+	Silent	SNP	T	T	C			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:41012841T>C	ENST00000372699.3	+	5	1097	c.846T>C	c.(844-846)taT>taC	p.Y282Y	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y282Y(1)		breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CCTTCAGGTATAGTTCATCCC	0.383																																																1	Substitution - coding silent(1)	kidney(1)											78	82	81					1																	41012841		2203	4300	6503	SO:0001819	synonymous_variant	127396				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"Zinc fingers, C2H2-type", "-"	28418	protein-coding gene	gene with protein product	"hypothetical protein MGC27466"					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.846T>C	1.37:g.41012841T>C			Q2NKY4	Silent	SNP	ENST00000372699.3	37	CCDS454.1																																																																																				0.383	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		C	41012841	T	C	41012841	2	2	60	1	0	0	0	0	0	0	0	1	18096	1413	49	3		3	ZNF684	1	41012841	Silent	SNP	T	TCGA-A3-3387-01A-01D-1534-10	1672070	41012841	208237780	10	4196											
DOCK7	85440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62979390	62979390	+	Silent	SNP	A	A	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:62979390A>G	ENST00000340370.5	-	31	4040	c.4023T>C	c.(4021-4023)taT>taC	p.Y1341Y	DOCK7_ENST00000251157.5_Silent_p.Y1372Y	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1372					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.Y1341Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CACTTACTTTATACTCAAAGC	0.363																																																1	Substitution - coding silent(1)	kidney(1)											90	88	89					1																	62979390		2203	4300	6503	SO:0001819	synonymous_variant	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4023T>C	1.37:g.62979390A>G			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	7.211	0.595376	0.13875	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.63	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7788	0.63071	0.0749:0.0:0.9251:0.0	.	.	.	.	Q	544	.	.	X	-	1	0	DOCK7	62751978	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.752000	0.68728	1.347000	0.45714	-0.468000	0.05107	TAA		0.363	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		G	62979390	A	G	62979390	2	3	60	1	0	0	0	0	0	0	0	1	4694	456	16	3		3	DOCK7	1	62979390	Silent	SNP	A	TCGA-A3-3387-01A-01D-1534-10	21966549	62979390	186271231	11	4197											
INSRR	3645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156814334	156814334	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:156814334T>C	ENST00000368195.3	-	14	3053	c.2657A>G	c.(2656-2658)tAc>tGc	p.Y886C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	886	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y886C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGGCAGAGTAGTTTCCAGG	0.572																																																1	Substitution - Missense(1)	kidney(1)											56	52	53					1																	156814334		2203	4300	6503	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2657A>G	1.37:g.156814334T>C	ENSP00000357178:p.Tyr886Cys		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.764571	0.69878	.	.	ENSG00000027644	ENST00000368195	D	0.89343	-2.5	4.3	4.3	0.51218	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40728	N	0.001032	D	0.92821	0.7717	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93813	0.7112	9	0.87932	D	0	.	12.415	0.55488	0.0:0.0:0.0:1.0	.	886	P14616	INSRR_HUMAN	C	886	ENSP00000357178:Y886C	ENSP00000357178:Y886C	Y	-	2	0	INSRR	155080958	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	6.142000	0.71750	1.802000	0.52723	0.460000	0.39030	TAC		0.572	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		C	156814334	T	C	156814334	3	2	60	1	0	0	0	0	1	0	0	0	7776	1638	57	3	1271	3	INSRR	1	156814334	Missense_Mutation	SNP	T	TCGA-A3-3387-01A-01D-1534-10	93834944	156814334	92436287	12	4198											
C1orf129	80133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	170985418	170985418	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:170985418A>C	ENST00000367759.4	+	17	2003	c.1849A>C	c.(1849-1851)Aaa>Caa	p.K617Q		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0								p.K617Q(1)									CGAACTGGACAAAGTGACCTA	0.413																																																1	Substitution - Missense(1)	kidney(1)											174	142	151					1																	170985418		692	1591	2283	SO:0001583	missense	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367759.4:c.1849A>C	1.37:g.170985418A>C	ENSP00000356733:p.Lys617Gln		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367759.4	37	CCDS53429.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987182	0.53934	.	.	ENSG00000117501	ENST00000367759	T	0.67345	-0.26	5.26	5.26	0.73747	.	.	.	.	.	T	0.49541	0.1563	L	0.29908	0.895	0.25742	N	0.98515	D	0.57899	0.981	P	0.56700	0.804	T	0.36817	-0.9732	9	0.12766	T	0.61	.	11.8601	0.52461	1.0:0.0:0.0:0.0	.	617	F5GWX6	.	Q	617	ENSP00000356733:K617Q	ENSP00000356733:K617Q	K	+	1	0	C1orf129	169252042	0.972000	0.33761	0.913000	0.36048	0.010000	0.07245	2.605000	0.46283	2.113000	0.64589	0.454000	0.30748	AAA		0.413	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025063		C	170985418	A	C	170985418	3	2	60	1	0	0	0	0	1	0	0	0	1998	131	5	5	2037	5	C1orf129	1	170985418	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	14171084	170985418	78265203	13	4199											
HMCN1	83872	broad.mit.edu	37	1	185964002	185964002	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:185964002A>T	ENST00000271588.4	+	24	3790	c.3561A>T	c.(3559-3561)agA>agT	p.R1187S	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1187S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1187	Ig-like C2-type 9.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R1187S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGGTCAAAGAGTGGATATTC	0.418																																																1	Substitution - Missense(1)	kidney(1)											134	127	129					1																	185964002		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3561A>T	1.37:g.185964002A>T	ENSP00000271588:p.Arg1187Ser		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.529694	0.27387	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.63255	-0.03;-0.03	5.35	4.2	0.49525	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.390469	0.32372	N	0.006195	T	0.53334	0.1790	N	0.11818	0.18	0.30119	N	0.805854	D	0.64830	0.994	D	0.67382	0.951	T	0.50825	-0.8782	10	0.06365	T	0.9	.	7.8755	0.29590	0.7196:0.1434:0.0:0.137	.	1187	Q96RW7	HMCN1_HUMAN	S	1187	ENSP00000271588:R1187S;ENSP00000356462:R1187S	ENSP00000271588:R1187S	R	+	3	2	HMCN1	184230625	0.965000	0.33210	0.998000	0.56505	0.980000	0.70556	0.475000	0.22164	0.924000	0.37069	0.528000	0.53228	AGA		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185964002	A	T	185964002	3	4	60	1	0	0	0	0	1	0	0	0	7222	301	11	5	3655	5	HMCN1	1	185964002	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	14978584	185964002	63286619	14	4200											
PGBD5	79605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	230461073	230461073	+	Silent	SNP	G	G	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr1:230461073G>A	ENST00000525115.1	-	6	1178	c.1155C>T	c.(1153-1155)taC>taT	p.Y385Y	PGBD5_ENST00000391860.1_Silent_p.Y339Y|PGBD5_ENST00000321327.2_Silent_p.Y484Y|PGBD5_ENST00000530424.1_5'UTR			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	385						integral component of membrane (GO:0016021)		p.Y484Y(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		ATTTGTCATCGTATCTGCAGA	0.527																																																1	Substitution - coding silent(1)	kidney(1)											250	213	226					1																	230461073		2203	4300	6503	SO:0001819	synonymous_variant	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.1155C>T	1.37:g.230461073G>A			A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	ENST00000525115.1	37																																																																																					0.527	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		A	230461073	G	A	230461073	2	1	60	1	0	0	0	0	0	0	0	1	11786	1140	40	1		1	PGBD5	1	230461073	Silent	SNP	G	TCGA-A3-3387-01A-01D-1534-10	44497071	230461073	18789548	15	4201											
SNTG2	54221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1094047	1094047	+	Silent	SNP	T	T	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr2:1094047T>G	ENST00000308624.5	+	4	405	c.276T>G	c.(274-276)tcT>tcG	p.S92S	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	92	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.S92S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AGGGAGGTTCTGAGCACAACG	0.393																																																1	Substitution - coding silent(1)	kidney(1)											135	129	131					2																	1094047		1885	4105	5990	SO:0001819	synonymous_variant	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.276T>G	2.37:g.1094047T>G			Q05AH5	Silent	SNP	ENST00000308624.5	37	CCDS46220.1																																																																																				0.393	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		G	1094047	T	G	1094047	2	3	60	1	0	0	0	0	0	0	0	1	14881	1567	55	5		5	SNTG2	2	1094047	Silent	SNP	T	TCGA-A3-3387-01A-01D-1534-10		1094047	242105326	16	4202											
VSNL1	7447	broad.mit.edu;ucsc.edu	37	2	17773470	17773470	+	Silent	SNP	A	A	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr2:17773470A>G	ENST00000406397.1	+	2	654	c.129A>G	c.(127-129)ctA>ctG	p.L43L	VSNL1_ENST00000404666.2_Silent_p.L43L|VSNL1_ENST00000295156.4_Silent_p.L43L			P62760	VISL1_HUMAN	visinin-like 1	43	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)	p.L43L(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTGGGAGGCTAAATCTCGAGG	0.428																																																1	Substitution - coding silent(1)	kidney(1)											174	165	168					2																	17773470		2203	4300	6503	SO:0001819	synonymous_variant	7447				CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"EF-hand domain containing"	12722	protein-coding gene	gene with protein product	"hippocalcin-like protein 3"	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.129A>G	2.37:g.17773470A>G			D6W515|P28677|P29103|P42323|Q9UM20	Silent	SNP	ENST00000406397.1	37	CCDS1689.1																																																																																				0.428	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		G	17773470	A	G	17773470	2	3	60	1	0	0	0	0	0	0	0	1	17232	349	13	3		3	VSNL1	2	17773470	Silent	SNP	A	TCGA-A3-3387-01A-01D-1534-10	16679423	17773470	225425903	17	4203											
ABI2	10152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	204267389	204267389	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr2:204267389C>A	ENST00000422511.2	+	9	1056	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	ABI2_ENST00000295851.5_Missense_Mutation_p.P375H|ABI2_ENST00000261016.6_Missense_Mutation_p.P263H|ABI2_ENST00000261018.7_Missense_Mutation_p.P161H|ABI2_ENST00000430418.1_Missense_Mutation_p.P320H|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.P369H|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261017.5_Missense_Mutation_p.P308H			Q9NYB9	ABI2_HUMAN	abl-interactor 2	375	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)	p.P308H(1)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGACGCCCTCCTTCCATTACT	0.438																																																1	Substitution - Missense(1)	kidney(1)											105	102	103					2																	204267389		2203	4300	6503	SO:0001583	missense	10152			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1025C>A	2.37:g.204267389C>A	ENSP00000396249:p.Pro342His		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.114613|5.114613	0.94339|0.94339	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000451591;ENST00000454023|ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018	.|T;T;T;T;T;T;T;T	.|0.52983	.|1.01;0.64;1.2;1.03;0.96;1.25;1.05;0.84	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.100896	.|0.64402	.|D	.|0.000001	T|T	0.66470|0.66470	0.2792|0.2792	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.997;0.996;0.99;0.994;0.996;0.983;0.999	.|D;D;P;P;P;P;P;P;D	.|0.74674	.|0.984;0.971;0.808;0.827;0.799;0.669;0.855;0.635;0.978	T|T	0.67719|0.67719	-0.5598|-0.5598	5|10	.|0.87932	.|D	.|0	-12.4621|-12.4621	19.6251|19.6251	0.95674|0.95674	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|161;210;100;252;369;320;263;375;308	.|B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.|.;.;.;.;.;.;.;ABI2_HUMAN;.	I|H	179;155|375;308;320;369;263;375;342;161	.|ENSP00000295851:P375H;ENSP00000261017:P308H;ENSP00000408898:P320H;ENSP00000391433:P369H;ENSP00000261016:P263H;ENSP00000414703:P375H;ENSP00000396249:P342H;ENSP00000261018:P161H	.|ENSP00000261016:P263H	L|P	+|+	1|2	0|0	ABI2|ABI2	203975634|203975634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.263000|7.263000	0.78421|0.78421	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.438	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		A	204267389	C	A	204267389	3	1	60	1	0	0	0	0	1	0	0	0	89	681	24	4	949	4	ABI2	2	204267389	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	186493919	204267389	38931984	18	4204											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643561	52643561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr3:52643561G>A	ENST00000296302.7	-	16	2336	c.2335C>T	c.(2335-2337)Caa>Taa	p.Q779*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q794*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q779*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q779*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q794*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q779*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q779*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q747*			Q86U86	PB1_HUMAN	polybromo 1	779					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q779*(5)|p.Q747*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAAGCTCTTGAATCAGCAAA	0.448			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(5)|breast(1)											90	84	86					3																	52643561		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2335C>T	3.37:g.52643561G>A	ENSP00000296302:p.Gln779*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	40	8.349302	0.98772	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-15.2806	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	747;779;779;779;779;779;794;794;779;738	.	ENSP00000296302:Q779X	Q	-	1	0	PBRM1	52618601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	CAA		0.448	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52643561	G	A	52643561	4	1	60	1	0	0	0	0	0	1	0	0	11493	1299	45	2	2625	2	PBRM1	3	52643561	Nonsense_Mutation	SNP	G	TCGA-A3-3387-01A-01D-1534-10		52643561	145378869	19	4205											
CASR	846	broad.mit.edu;hgsc.bcm.edu	37	3	122003164	122003164	+	Missense_Mutation	SNP	T	T	A	rs104893701		TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr3:122003164T>A	ENST00000490131.1	+	7	2735	c.2363T>A	c.(2362-2364)tTc>tAc	p.F788Y	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.F798Y|CASR_ENST00000296154.5_Missense_Mutation_p.F788Y	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	788			F -> C (in HYPOC1; leftward shift in the concentration-response curve for the mutant receptor; cells cotransfected with both the wild-type and the mutant receptor show an EC(50) similar to the mutant; a gain-of-function mutation rendering the receptor more sensitive than normal to activation). {ECO:0000269|PubMed:9661634}.|F -> L (in HYPOC1; induces a significant shift to the left relative to the wild- type protein in the MAPK response to increasing extracellular calcium concentrations). {ECO:0000269|PubMed:12915654}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.F788Y(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCATCTGCTTCTTCTTTGCC	0.547																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM980304	CASR	M	rs104893701						44	42	43					3																	122003164		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2363T>A	3.37:g.122003164T>A	ENSP00000418685:p.Phe788Tyr		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415022	0.83449	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89681	-2.55;-2.55;-2.55	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95417	0.8512	M	0.89715	3.055	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.991;0.995	D	0.96037	0.9021	10	0.72032	D	0.01	.	15.7575	0.78046	0.0:0.0:0.0:1.0	.	798;788	E7ENE0;P41180	.;CASR_HUMAN	Y	788;798;788	ENSP00000418685:F788Y;ENSP00000420194:F798Y;ENSP00000296154:F788Y	ENSP00000296154:F788Y	F	+	2	0	CASR	123485854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	TTC		0.547	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		A	122003164	T	A	122003164	3	1	60	1	0	0	0	0	1	0	0	0	2684	1783	62	5	2415	5	CASR	3	122003164	Missense_Mutation	SNP	T	TCGA-A3-3387-01A-01D-1534-10	69359603	122003164	76019266	20	4206											
PARP14	54625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122418640	122418640	+	Silent	SNP	A	A	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr3:122418640A>T	ENST00000474629.2	+	6	1505	c.1239A>T	c.(1237-1239)atA>atT	p.I413I		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I250I(1)|p.I413I(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGGACACCATAAAAAATGATG	0.398																																																2	Substitution - coding silent(2)	kidney(2)											132	126	128					3																	122418640		1882	4115	5997	SO:0001819	synonymous_variant	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1239A>T	3.37:g.122418640A>T			B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	CCDS46894.1																																																																																				0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		T	122418640	A	T	122418640	2	4	60	1	0	0	0	0	0	0	0	1	11460	352	13	5		5	PARP14	3	122418640	Silent	SNP	A	TCGA-A3-3387-01A-01D-1534-10	415476	122418640	75603790	21	4207											
SLC33A1	9197	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	155571204	155571204	+	Missense_Mutation	SNP	T	T	A	rs148999356		TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr3:155571204T>A	ENST00000392845.3	-	1	963	c.583A>T	c.(583-585)Att>Ttt	p.I195F	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Missense_Mutation_p.I195F			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	195					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.I195F(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCGACGGCAATGTCCTGAGTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											71	76	75					3																	155571204		2203	4300	6503	SO:0001583	missense	9197			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.583A>T	3.37:g.155571204T>A	ENSP00000376587:p.Ile195Phe		B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	CCDS3173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.628921|4.628921	0.87560|0.87560	.|.	.|.	ENSG00000169359|ENSG00000169359	ENST00000475842|ENST00000392845;ENST00000359479	.|T;T	.|0.78126	.|-1.15;-1.15	5.28|5.28	4.11|4.11	0.48088|0.48088	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.147788	.|0.64402	.|D	.|0.000015	D|D	0.90597|0.90597	0.7052|0.7052	H|H	0.95470|0.95470	3.675|3.675	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.91750|0.91750	0.5411|0.5411	5|10	.|0.87932	.|D	.|0	-9.835|-9.835	11.3297|11.3297	0.49468|0.49468	0.0:0.0717:0.0:0.9283|0.0:0.0717:0.0:0.9283	.|.	.|195	.|O00400	.|ACATN_HUMAN	L|F	26|195	.|ENSP00000376587:I195F;ENSP00000352456:I195F	.|ENSP00000352456:I195F	H|I	-|-	2|1	0|0	SLC33A1|SLC33A1	157053898|157053898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	6.155000|6.155000	0.71833|0.71833	0.947000|0.947000	0.37659|0.37659	0.529000|0.529000	0.55759|0.55759	CAT|ATT		0.498	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		A	155571204	T	A	155571204	3	1	60	1	0	0	0	0	1	0	0	0	14572	1464	51	5	1090	5	SLC33A1	3	155571204	Missense_Mutation	SNP	T	TCGA-A3-3387-01A-01D-1534-10	33152564	155571204	42451226	22	4208											
LAMP3	27074	broad.mit.edu;ucsc.edu	37	3	182871951	182871951	+	Missense_Mutation	SNP	T	T	C	rs369097974		TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr3:182871951T>C	ENST00000265598.3	-	2	533	c.278A>G	c.(277-279)aAc>aGc	p.N93S	LAMP3_ENST00000466939.1_Missense_Mutation_p.N69S	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	93	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.N93S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GGTTGCAGTGTTTTTTGTAGT	0.488																																																1	Substitution - Missense(1)	kidney(1)						T	SER/ASN	0,4406		0,0,2203	274	260	264		278	3.6	0	3		264	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMP3	NM_014398.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	93/417	182871951	1,13005	2203	4300	6503	SO:0001583	missense	27074			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.278A>G	3.37:g.182871951T>C	ENSP00000265598:p.Asn93Ser		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	T	0.287	-0.982828	0.02180	0.0	1.16E-4	ENSG00000078081	ENST00000265598;ENST00000466939;ENST00000476015;ENST00000470251	T;T;T;T	0.36878	1.89;1.87;1.23;1.24	5.47	3.61	0.41365	.	0.789213	0.11957	N	0.513170	T	0.13030	0.0316	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22521	-1.0214	10	0.02654	T	1	-0.4693	10.4841	0.44711	0.0:0.8911:0.0:0.1089	.	93	Q9UQV4	LAMP3_HUMAN	S	93;69;93;69	ENSP00000265598:N93S;ENSP00000418912:N69S;ENSP00000419059:N93S;ENSP00000420589:N69S	ENSP00000265598:N93S	N	-	2	0	LAMP3	184354645	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.102000	0.10956	0.554000	0.29061	-0.274000	0.10170	AAC		0.488	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			C	182871951	T	C	182871951	3	2	60	1	0	0	0	0	1	0	0	0	8621	1725	60	3	992	3	LAMP3	3	182871951	Missense_Mutation	SNP	T	TCGA-A3-3387-01A-01D-1534-10	27300747	182871951	15150479	23	4209											
BCL6	604	broad.mit.edu	37	3	187446247	187446247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr3:187446247G>A	ENST00000406870.2	-	6	1807	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	BCL6_ENST00000450123.2_Nonsense_Mutation_p.Q481*|BCL6_ENST00000232014.4_Nonsense_Mutation_p.Q481*|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	481					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q481*(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGTGGGGACTGAGAGCCGCAG	0.612			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	1	Substitution - Nonsense(1)	kidney(1)											71	60	64					3																	187446247		2203	4300	6503	SO:0001587	stop_gained	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1441C>T	3.37:g.187446247G>A	ENSP00000384371:p.Gln481*		A7E241|B8PSA7|D3DNV5	Nonsense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	43	9.845172	0.99277	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	.	.	.	4.98	4.98	0.66077	.	0.106321	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	18.1114	0.89537	0.0:0.0:1.0:0.0	.	.	.	.	X	481	.	ENSP00000232014:Q481X	Q	-	1	0	BCL6	188928941	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	9.256000	0.95535	2.696000	0.92011	0.561000	0.74099	CAG		0.612	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		A	187446247	G	A	187446247	4	1	60	1	0	0	0	0	0	1	0	0	1376	1299	45	2	699	2	BCL6	3	187446247	Nonsense_Mutation	SNP	G	TCGA-A3-3387-01A-01D-1534-10	4574296	187446247	10576183	24	4210											
C3orf34	84984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196434643	196434643	+	Nonsense_Mutation	SNP	C	C	A	rs139813132	byFrequency	TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr3:196434643C>A	ENST00000399942.4	-	2	460	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	CEP19_ENST00000409690.3_Nonsense_Mutation_p.E95*|RNU6-646P_ENST00000364571.1_RNA			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	91						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.E91*(2)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						TGAATTTGTTCCATTGTTTCT	0.428																																																2	Substitution - Nonsense(2)	lung(1)|kidney(1)											211	193	199					3																	196434643		1904	4126	6030	SO:0001587	stop_gained	0			BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"chromosome 3 open reading frame 34"	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.166G>T	3.37:g.196434643C>A	ENSP00000382823:p.Glu56*		B2RA74|Q96I48	Nonsense_Mutation	SNP	ENST00000399942.4	37		.	.	.	.	.	.	.	.	.	.	C	37	6.402332	0.97537	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.56	4.67	0.58626	.	0.247626	0.47093	D	0.000254	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-3.6719	11.7116	0.51628	0.0:0.8069:0.1245:0.0686	.	.	.	.	X	95;56	.	ENSP00000382823:E56X	E	-	1	0	CEP19	197919040	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.102000	0.50291	1.423000	0.47198	0.655000	0.94253	GAA		0.428	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898		A	196434643	C	A	196434643	4	1	60	1	0	0	0	0	0	1	0	0	2226	864	30	4	224	4	C3orf34	3	196434643	Nonsense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	8988396	196434643	1587787	25	4211											
CPLX1	10815	broad.mit.edu	37	4	780370	780370	+	Silent	SNP	C	C	T	rs371785028		TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr4:780370C>T	ENST00000304062.6	-	4	555	c.324G>A	c.(322-324)gaG>gaA	p.E108E	CPLX1_ENST00000505203.1_Silent_p.E87E	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	108					exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)	p.E108E(1)		kidney(1)|lung(2)	3				Colorectal(103;0.187)		CCTCCTCCACCTCGTCCCCGC	0.701																																																1	Substitution - coding silent(1)	kidney(1)						C		1,4401	2.1+/-5.4	0,1,2200	27	31	29		324	2.8	1	4		29	0,8596		0,0,4298	no	coding-synonymous	CPLX1	NM_006651.3		0,1,6498	TT,TC,CC		0.0,0.0227,0.0077		108/135	780370	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	10815			AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.324G>A	4.37:g.780370C>T			A6NI80|B2R4R5|D3DVN3|F1T0G1	Silent	SNP	ENST00000304062.6	37	CCDS46995.1																																																																																				0.701	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358830.1			T	780370	C	T	780370	2	4	60	1	0	0	0	0	0	0	0	1	3806	680	24	2		2	CPLX1	4	780370	Silent	SNP	C	TCGA-A3-3387-01A-01D-1534-10		780370	190373906	26	4212											
PDE5A	8654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	120442144	120442144	+	Silent	SNP	A	A	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr4:120442144A>G	ENST00000354960.3	-	13	2170	c.1851T>C	c.(1849-1851)caT>caC	p.H617H	PDE5A_ENST00000394439.1_Silent_p.H565H|PDE5A_ENST00000264805.5_Silent_p.H575H|PDE5A_ENST00000512739.1_5'Flank|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	617	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.H617H(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TATTAAAGGCATGTCTCCAAT	0.338																																																1	Substitution - coding silent(1)	kidney(1)											151	153	152					4																	120442144		2202	4300	6502	SO:0001819	synonymous_variant	8654			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1851T>C	4.37:g.120442144A>G			A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Silent	SNP	ENST00000354960.3	37	CCDS3713.1																																																																																				0.338	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		G	120442144	A	G	120442144	2	3	60	1	0	0	0	0	0	0	0	1	11646	214	8	3		3	PDE5A	4	120442144	Silent	SNP	A	TCGA-A3-3387-01A-01D-1534-10	119661774	120442144	70712132	27	4213											
ACCN5	51802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	156757933	156757933	+	Missense_Mutation	SNP	T	T	G	rs142739848		TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr4:156757933T>G	ENST00000537611.2	-	8	1189	c.1143A>C	c.(1141-1143)gaA>gaC	p.E381D		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	381					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.E381D(1)									TGGCCGGGTATTCTATTTCTT	0.373																																																1	Substitution - Missense(1)	kidney(1)											78	85	83					4																	156757933		2203	4300	6503	SO:0001583	missense	0			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1143A>C	4.37:g.156757933T>G	ENSP00000442477:p.Glu381Asp			Missense_Mutation	SNP	ENST00000537611.2	37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.411110	0.25465	.	.	ENSG00000256394	ENST00000537611	T	0.64085	-0.08	4.8	-0.671	0.11381	.	0.492658	0.18953	N	0.126629	T	0.31888	0.0811	N	0.11313	0.125	0.27095	N	0.962757	B	0.09022	0.002	B	0.12837	0.008	T	0.14090	-1.0485	10	0.13108	T	0.6	-14.1874	4.4305	0.11525	0.2686:0.3688:0.0:0.3626	.	381	Q9NY37	ACCN5_HUMAN	D	381	ENSP00000442477:E381D	ENSP00000264432:E381D	E	-	3	2	ACCN5	156977383	0.984000	0.35163	0.988000	0.46212	0.987000	0.75469	-0.005000	0.12855	0.090000	0.17273	0.533000	0.62120	GAA		0.373	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			G	156757933	T	G	156757933	3	3	60	1	0	0	0	0	1	0	0	0	132	1490	52	5	386	5	ACCN5	4	156757933	Missense_Mutation	SNP	T	TCGA-A3-3387-01A-01D-1534-10	36315789	156757933	34396343	28	4214											
TRIO	7204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	14497119	14497119	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr5:14497119C>A	ENST00000344204.4	+	50	8036	c.8012C>A	c.(8011-8013)tCt>tAt	p.S2671Y	TRIO_ENST00000344135.5_Missense_Mutation_p.S170Y|TRIO_ENST00000537187.1_Missense_Mutation_p.S2495Y	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2671					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S2671Y(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AACAAGGTATCTGTGAAGGTG	0.493																																																1	Substitution - Missense(1)	kidney(1)											117	99	105					5																	14497119		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8012C>A	5.37:g.14497119C>A	ENSP00000339299:p.Ser2671Tyr		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810901	0.90707	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000344135	T;T;T	0.68903	-0.33;-0.23;-0.36	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.79958	0.4536	M	0.61703	1.905	0.35578	D	0.806038	D	0.69078	0.997	D	0.74348	0.983	D	0.85567	0.1231	10	0.87932	D	0	.	17.1098	0.86672	0.0:1.0:0.0:0.0	.	2671	O75962	TRIO_HUMAN	Y	2671;2495;2358;170	ENSP00000339299:S2671Y;ENSP00000446348:S2495Y;ENSP00000339291:S170Y	ENSP00000339291:S170Y	S	+	2	0	TRIO	14550119	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.390000	0.79816	2.461000	0.83175	0.655000	0.94253	TCT		0.493	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		A	14497119	C	A	14497119	3	1	60	1	0	0	0	0	1	0	0	0	16557	913	32	4	8210	4	TRIO	5	14497119	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10		14497119	166418141	29	4215											
RANBP3L	202151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	36255599	36255599	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr5:36255599C>A	ENST00000296604.3	-	11	1482	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	RANBP3L_ENST00000502994.1_Missense_Mutation_p.D358Y	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	333	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)			p.D333Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GTTCCACAGTCAGTGCTTGCT	0.373																																																1	Substitution - Missense(1)	kidney(1)											206	166	179					5																	36255599		2203	4299	6502	SO:0001583	missense	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.997G>T	5.37:g.36255599C>A	ENSP00000296604:p.Asp333Tyr		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.479565	0.63849	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.26373	1.74;1.75	5.87	2.7	0.31948	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.489678	0.20668	N	0.087890	T	0.44582	0.1300	M	0.83953	2.67	0.24162	N	0.995651	P;P	0.45176	0.8;0.852	P;P	0.56163	0.793;0.71	T	0.26360	-1.0105	10	0.87932	D	0	-8.1249	7.8825	0.29631	0.0:0.6587:0.0:0.3413	.	358;333	E9PGP9;Q86VV4	.;RNB3L_HUMAN	Y	333;358	ENSP00000296604:D333Y;ENSP00000421853:D358Y	ENSP00000296604:D333Y	D	-	1	0	RANBP3L	36291356	0.937000	0.31787	0.984000	0.44739	0.978000	0.69477	1.343000	0.33930	0.952000	0.37798	-0.137000	0.14449	GAC		0.373	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		A	36255599	C	A	36255599	3	1	60	1	0	0	0	0	1	0	0	0	13036	826	29	4	416	4	RANBP3L	5	36255599	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	21758480	36255599	144659661	30	4216											
HEATR7B2	133558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	41045851	41045851	+	Silent	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr5:41045851C>T	ENST00000399564.4	-	18	2283	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E	MROH2B_ENST00000506092.2_Silent_p.E166E	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	611								p.E611E(1)									AACCAACCTTCTCAGTGGAGT	0.443																																																1	Substitution - coding silent(1)	kidney(1)											170	162	164					5																	41045851		1949	4152	6101	SO:0001819	synonymous_variant	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1833G>A	5.37:g.41045851C>T			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																				0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41045851	C	T	41045851	2	4	60	1	0	0	0	0	0	0	0	1	7037	912	32	2		2	HEATR7B2	5	41045851	Silent	SNP	C	TCGA-A3-3387-01A-01D-1534-10	4790252	41045851	139869409	31	4217											
CDC25C	995	broad.mit.edu	37	5	137621505	137621505	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr5:137621505C>A	ENST00000323760.6	-	14	1576	c.1298G>T	c.(1297-1299)tGc>tTc	p.C433F	CDC25C_ENST00000514555.1_Missense_Mutation_p.C403F|CDC25C_ENST00000348983.3_Missense_Mutation_p.C360F|CDC25C_ENST00000415130.2_Missense_Mutation_p.C360F|CDC25C_ENST00000513970.1_Missense_Mutation_p.C433F|CDC25C_ENST00000356505.3_Missense_Mutation_p.C403F|CDC25C_ENST00000357274.3_Missense_Mutation_p.C390F	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	433					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)	p.C433F(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATGCATAGGGCAGTAGCTCTG	0.512																																																1	Substitution - Missense(1)	kidney(1)											103	93	96					5																	137621505		2203	4300	6503	SO:0001583	missense	995			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"Protein tyrosine phosphatases / Class III Cys-based PTPs", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1727	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 60"	157680	"cell division cycle 25C", "cell division cycle 25 homolog C (S. cerevisiae)", "cell division cycle 25 homolog C (S. pombe)"	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1298G>T	5.37:g.137621505C>A	ENSP00000321656:p.Cys433Phe		D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936206	0.73442	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.32	5.32	0.75619	Rhodanese-like (2);	0.335257	0.28641	N	0.014622	T	0.52484	0.1737	L	0.56769	1.78	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.71870	0.966;0.975;0.924;0.944	T	0.46484	-0.9188	10	0.49607	T	0.09	-14.9436	17.9328	0.89004	0.0:1.0:0.0:0.0	.	450;403;360;433	G3V1P6;P30307-2;P30307-4;P30307	.;.;.;MPIP3_HUMAN	F	433;403;390;360;360;433;450;403	ENSP00000321656:C433F;ENSP00000348898:C403F;ENSP00000349821:C390F;ENSP00000345205:C360F;ENSP00000392631:C360F;ENSP00000424795:C433F;ENSP00000425470:C403F	ENSP00000321656:C433F	C	-	2	0	CDC25C	137649404	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.763000	0.68818	2.767000	0.95098	0.655000	0.94253	TGC		0.512	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			A	137621505	C	A	137621505	3	1	60	1	0	0	0	0	1	0	0	0	3066	710	25	4	127	4	CDC25C	5	137621505	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	96575654	137621505	43293755	32	4218											
ANKHD1	54882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139876554	139876554	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr5:139876554G>T	ENST00000360839.2	+	15	2849	c.2695G>T	c.(2695-2697)Gtt>Ttt	p.V899F	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V899F|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000297183.6_Missense_Mutation_p.V899F	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	899						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V899F(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTACCTCAGGTTGACACAAT	0.448																																																2	Substitution - Missense(2)	kidney(2)											102	101	102					5																	139876554		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2695G>T	5.37:g.139876554G>T	ENSP00000354085:p.Val899Phe		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291944	0.59976	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.74002	-0.77;-0.8;-0.65;-0.8	5.46	4.58	0.56647	Ankyrin repeat-containing domain (1);	0.067544	0.64402	D	0.000017	T	0.73892	0.3645	L	0.46157	1.445	0.58432	D	0.999995	B;B;B	0.28552	0.215;0.137;0.137	B;B;B	0.37047	0.24;0.121;0.121	T	0.74621	-0.3604	10	0.72032	D	0.01	.	16.8077	0.85710	0.0:0.1286:0.8714:0.0	.	899;899;899	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	F	899;932;899;899;433;918;899	ENSP00000354085:V899F;ENSP00000297183:V899F;ENSP00000394489:V918F;ENSP00000432016:V899F	ENSP00000432016:V899F	V	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139856738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	1.405000	0.46838	0.585000	0.79938	GTT		0.448	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		T	139876554	G	T	139876554	3	4	60	1	0	0	0	0	1	0	0	0	628	1261	44	4	2859	4	ANKHD1	5	139876554	Missense_Mutation	SNP	G	TCGA-A3-3387-01A-01D-1534-10	2255049	139876554	41038706	33	4219											
CRISP1	167	broad.mit.edu;ucsc.edu	37	6	49819726	49819726	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr6:49819726G>T	ENST00000335847.4	-	3	284	c.183C>A	c.(181-183)aaC>aaA	p.N61K	CRISP1_ENST00000329411.5_Missense_Mutation_p.N61K|CRISP1_ENST00000505118.1_Missense_Mutation_p.N61K|CRISP1_ENST00000507853.1_Missense_Mutation_p.N61K|CRISP1_ENST00000355791.2_Missense_Mutation_p.N61K|CRISP1_ENST00000536021.1_Missense_Mutation_p.N61K	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	61	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)	p.N61K(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TCTTCAGCATGTTGCTGGCTG	0.378																																																1	Substitution - Missense(1)	kidney(1)											173	157	162					6																	49819726		2203	4300	6503	SO:0001583	missense	167			D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"acidic epididymal glycoprotein-like 1"	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.183C>A	6.37:g.49819726G>T	ENSP00000338276:p.Asn61Lys		B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912336	0.72983	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69	5.06	5.06	0.68205	CAP domain (3);	0.121540	0.64402	D	0.000017	T	0.33847	0.0877	M	0.87180	2.865	0.48185	D	0.999608	D;D	0.89917	0.992;1.0	P;D	0.91635	0.801;0.999	T	0.13229	-1.0517	9	.	.	.	.	13.8043	0.63220	0.0:0.0:1.0:0.0	.	61;61	P54107-2;P54107	.;CRIS1_HUMAN	K	61	ENSP00000425020:N61K;ENSP00000338276:N61K;ENSP00000348044:N61K;ENSP00000331317:N61K;ENSP00000427589:N61K;ENSP00000441798:N61K	.	N	-	3	2	CRISP1	49927685	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.445000	0.44899	2.640000	0.89533	0.655000	0.94253	AAC		0.378	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		T	49819726	G	T	49819726	3	4	60	1	0	0	0	0	1	0	0	0	3881	1368	48	4	590	4	CRISP1	6	49819726	Missense_Mutation	SNP	G	TCGA-A3-3387-01A-01D-1534-10		49819726	121295341	34	4220											
EEF1A1	1915	broad.mit.edu;hgsc.bcm.edu	37	6	74227570	74227570	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr6:74227570A>T	ENST00000316292.9	-	7	2343	c.1352T>A	c.(1351-1353)gTc>gAc	p.V451D	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.V451D|EEF1A1_ENST00000331523.2_Missense_Mutation_p.V451D	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	451					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)	p.V451D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						AGACTTGGTGACCTTGCCAGC	0.473											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - Missense(1)	kidney(1)											21	22	21					6																	74227570		2177	4268	6445	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1352T>A	6.37:g.74227570A>T	ENSP00000339063:p.Val451Asp	1151	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	CCDS4980.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.25|19.25	3.792359|3.792359	0.70452|0.70452	.|.	.|.	ENSG00000156508|ENSG00000156508	ENST00000456206|ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977	.|T;T;T	.|0.48201	.|0.82;0.82;0.82	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.073105	.|0.53938	.|U	.|0.000052	T|T	0.64994|0.64994	0.2649|0.2649	M|M	0.88842|0.88842	2.985|2.985	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.53885	.|0.963;0.963;0.877	.|P;P;P	.|0.62089	.|0.898;0.898;0.84	T|T	0.74041|0.74041	-0.3792|-0.3792	6|10	0.87932|0.87932	D|D	0|0	.|.	14.7177|14.7177	0.69284|0.69284	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|451;451;451	.|P68104;Q6IPS9;Q5VTE0	.|EF1A1_HUMAN;.;EF1A3_HUMAN	T|D	96|451;451;451;430	.|ENSP00000339063:V451D;ENSP00000339053:V451D;ENSP00000330054:V451D	ENSP00000402463:S96T|ENSP00000339053:V451D	S|V	-|-	1|2	0|0	EEF1A1|EEF1A1	74284291|74284291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.875000|8.875000	0.92372|0.92372	1.929000|1.929000	0.55896|0.55896	0.454000|0.454000	0.30748|0.30748	TCA|GTC		0.473	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		T	74227570	A	T	74227570	3	4	60	1	0	0	0	0	1	0	0	0	4925	275	10	5	40	5	EEF1A1	6	74227570	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	24407844	74227570	96887497	35	4221											
ORC3L	23595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	88367719	88367719	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr6:88367719C>A	ENST00000392844.3	+	16	1722	c.1674C>A	c.(1672-1674)ttC>ttA	p.F558L	ORC3_ENST00000257789.4_Missense_Mutation_p.F559L|ORC3_ENST00000546266.1_Missense_Mutation_p.F415L|ORC3_ENST00000417380.2_3'UTR	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	558					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.F559L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTGTGAACTTCATTGACTGTC	0.333																																																1	Substitution - Missense(1)	kidney(1)											75	74	74					6																	88367719		2203	4300	6503	SO:0001583	missense	23595			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1674C>A	6.37:g.88367719C>A	ENSP00000376586:p.Phe558Leu		A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557186	0.45590	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.09538	3.35;3.33;2.97	5.12	2.14	0.27477	.	0.202728	0.52532	D	0.000064	T	0.01523	0.0049	N	0.26042	0.785	0.41520	D	0.98839	B;B;B	0.31680	0.022;0.335;0.079	B;B;B	0.26614	0.015;0.071;0.067	T	0.35025	-0.9805	10	0.07030	T	0.85	-3.6428	5.1749	0.15129	0.0:0.5312:0.1446:0.3243	.	496;558;559	B4E014;Q9UBD5;Q9UBD5-2	.;ORC3_HUMAN;.	L	558;559;415	ENSP00000376586:F558L;ENSP00000257789:F559L;ENSP00000444695:F415L	ENSP00000257789:F559L	F	+	3	2	ORC3	88424438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.970000	0.29383	0.641000	0.30601	0.557000	0.71058	TTC		0.333	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			A	88367719	C	A	88367719	3	1	60	1	0	0	0	0	1	0	0	0	11265	825	29	4	1739	4	ORC3L	6	88367719	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	14140149	88367719	82747348	36	4222											
ROS1	6098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	117674152	117674152	+	Splice_Site	SNP	C	C	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr6:117674152C>A	ENST00000368508.3	-	26	4520		c.e26+1		GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase						cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GACTTTATTACCTGGAAAAGG	0.443			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	2	Unknown(2)	kidney(2)											134	125	128					6																	117674152		2203	4300	6503	SO:0001630	splice_region_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4321+1G>T	6.37:g.117674152C>A			Q15368|Q5TDB5	Splice_Site	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313890	0.81358	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9045	0.86123	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROS1	117780845	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.603000	0.61105	2.739000	0.93911	0.650000	0.86243	.		0.443	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Intron	A	117674152	C	A	117674152	5	1	60	1	0	0	0	0	0	0	1	0	13537	521	18	4	2793	4	ROS1	6	117674152	Splice_Site	SNP	C	TCGA-A3-3387-01A-01D-1534-10	29306433	117674152	53440915	37	4223											
ECT2L	345930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	139206666	139206666	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr6:139206666C>A	ENST00000423192.1	+	16	2213	c.2052C>A	c.(2050-2052)ttC>ttA	p.F684L	ECT2L_ENST00000367682.2_Missense_Mutation_p.F684L|ECT2L_ENST00000541398.1_Intron			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	684	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F684L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TACCAGCATTCCGAACTTTCC	0.453			"N, Splice, Mis"		ETP ALL																																		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	1	Substitution - Missense(1)	kidney(1)											110	104	106					6																	139206666		1911	4120	6031	SO:0001583	missense	345930				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2052C>A	6.37:g.139206666C>A	ENSP00000387388:p.Phe684Leu		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169681	0.78452	.	.	ENSG00000203734	ENST00000423192;ENST00000367682	T;T	0.68181	-0.31;-0.31	5.3	4.42	0.53409	Dbl homology (DH) domain (5);	0.000000	0.44483	U	0.000449	T	0.70491	0.3230	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.74087	-0.3778	10	0.59425	D	0.04	-5.9409	7.5672	0.27885	0.0:0.8044:0.0:0.1956	.	684	Q008S8	ECT2L_HUMAN	L	684	ENSP00000387388:F684L;ENSP00000356655:F684L	ENSP00000356655:F684L	F	+	3	2	ECT2L	139248359	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	1.361000	0.34136	1.214000	0.43395	0.655000	0.94253	TTC		0.453	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		A	139206666	C	A	139206666	3	1	60	1	0	0	0	0	1	0	0	0	4904	854	30	4	2110	4	ECT2L	6	139206666	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	21532514	139206666	31908401	38	4224											
RAET1E	135250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150210680	150210680	+	Silent	SNP	G	G	A	rs572045980		TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr6:150210680G>A	ENST00000357183.4	-	3	558	c.426C>T	c.(424-426)acC>acT	p.T142T	RAET1E_ENST00000532335.1_Silent_p.T142T|RAET1E_ENST00000367363.3_Silent_p.T106T|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Silent_p.T142T|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	142	MHC class I alpha-2 like.		T -> I (in dbSNP:rs9371533).	AT -> TI (in Ref. 8; AAL76417). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.T142T(2)		cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCTCTCCATTGGTGGCGAACT	0.473													N|||	1	0.000199681	0.0008	0.0	5008	,	,		21745	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	cervix(1)|kidney(1)											156	128	137					6																	150210680		2203	4300	6503	SO:0001819	synonymous_variant	135250			AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.426C>T	6.37:g.150210680G>A			A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	CCDS5221.1																																																																																				0.473	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		A	150210680	G	A	150210680	2	1	60	1	0	0	0	0	0	0	0	1	13005	1335	47	2		2	RAET1E	6	150210680	Silent	SNP	G	TCGA-A3-3387-01A-01D-1534-10	11004014	150210680	20904387	39	4225											
HECW1	23072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	43548639	43548639	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr7:43548639G>T	ENST00000395891.2	+	24	4543	c.3938G>T	c.(3937-3939)gGa>gTa	p.G1313V	HECW1_ENST00000453890.1_Missense_Mutation_p.G1279V|AC011738.4_ENST00000436105.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1313	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G1313V(1)|p.G1292V(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTTACTATGGACTCTTTGAG	0.488																																																2	Substitution - Missense(2)	kidney(2)											128	123	125					7																	43548639		1901	4119	6020	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3938G>T	7.37:g.43548639G>T	ENSP00000379228:p.Gly1313Val		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	33	5.205377	0.95033	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.60920	0.15;0.15	5.92	5.92	0.95590	HECT (4);	0.000000	0.85682	D	0.000000	D	0.82582	0.5068	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85338	0.1094	10	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	1279;1313	B4DH42;Q76N89	.;HECW1_HUMAN	V	1313;1279;1313	ENSP00000379228:G1313V;ENSP00000407774:G1279V	ENSP00000265522:G1313V	G	+	2	0	HECW1	43515164	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.811000	0.96726	0.555000	0.69702	GGA		0.488	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		T	43548639	G	T	43548639	3	4	60	1	0	0	0	0	1	0	0	0	7044	1174	41	4	4024	4	HECW1	7	43548639	Missense_Mutation	SNP	G	TCGA-A3-3387-01A-01D-1534-10		43548639	115590024	40	4226											
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48353926	48353926	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr7:48353926C>A	ENST00000435803.1	+	26	9803	c.9779C>A	c.(9778-9780)tCt>tAt	p.S3260Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3260					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S3260Y(2)|p.S3205Y(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTAGCGATTCTAATATGTTT	0.363																																																4	Substitution - Missense(4)	lung(2)|kidney(2)											77	71	73					7																	48353926		1812	4084	5896	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9779C>A	7.37:g.48353926C>A	ENSP00000411096:p.Ser3260Tyr		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574111	0.45902	.	.	ENSG00000179869	ENST00000435803	D	0.86432	-2.12	5.7	5.7	0.88788	.	0.141719	0.32918	N	0.005493	D	0.91971	0.7457	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.68192	0.885;0.956	D	0.92103	0.5690	10	0.72032	D	0.01	.	17.353	0.87329	0.0:1.0:0.0:0.0	.	962;3260	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	Y	3260	ENSP00000411096:S3260Y	ENSP00000411096:S3260Y	S	+	2	0	ABCA13	48324472	0.002000	0.14202	0.092000	0.20876	0.211000	0.24417	1.600000	0.36762	2.848000	0.98002	0.655000	0.94253	TCT		0.363	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48353926	C	A	48353926	3	1	60	1	0	0	0	0	1	0	0	0	31	913	32	4	9710	4	ABCA13	7	48353926	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	4805287	48353926	110784737	41	4227											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82545945	82545945	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr7:82545945T>G	ENST00000333891.9	-	7	11694	c.11357A>C	c.(11356-11358)gAg>gCg	p.E3786A	PCLO_ENST00000437081.1_Missense_Mutation_p.E506A|PCLO_ENST00000423517.2_Missense_Mutation_p.E3786A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E3786A(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCATCAAGCTCTGCTTGTTT	0.433																																																2	Substitution - Missense(2)	kidney(2)											140	125	130					7																	82545945		1905	4129	6034	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11357A>C	7.37:g.82545945T>G	ENSP00000334319:p.Glu3786Ala			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628594	0.67015	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.54675	0.56;0.59	6.04	6.04	0.98038	.	.	.	.	.	T	0.73385	0.3580	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	T	0.76383	-0.2979	9	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	3717;3786;3786	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	A	3786;3786;506	ENSP00000334319:E3786A;ENSP00000388393:E3786A	ENSP00000334319:E3786A	E	-	2	0	PCLO	82383881	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	GAG		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82545945	T	G	82545945	3	3	60	1	0	0	0	0	1	0	0	0	11585	1551	54	5	4164	5	PCLO	7	82545945	Missense_Mutation	SNP	T	TCGA-A3-3387-01A-01D-1534-10	34192019	82545945	76592718	42	4228											
ZNF804B	219578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	88965798	88965798	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr7:88965798C>T	ENST00000333190.4	+	4	4111	c.3502C>T	c.(3502-3504)Cat>Tat	p.H1168Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1168							metal ion binding (GO:0046872)	p.H1168Y(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGCCCAGCAGCATATGCAGAA	0.453										HNSCC(36;0.09)																																						1	Substitution - Missense(1)	kidney(1)											69	64	65					7																	88965798		2203	4300	6503	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3502C>T	7.37:g.88965798C>T	ENSP00000329638:p.His1168Tyr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410688	0.83340	.	.	ENSG00000182348	ENST00000333190	T	0.15487	2.42	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000004	T	0.44953	0.1318	M	0.76328	2.33	0.48511	D	0.999664	D	0.89917	1.0	D	0.85130	0.997	T	0.42241	-0.9463	10	0.87932	D	0	-16.0061	18.8132	0.92065	0.0:1.0:0.0:0.0	.	1168	A4D1E1	Z804B_HUMAN	Y	1168	ENSP00000329638:H1168Y	ENSP00000329638:H1168Y	H	+	1	0	ZNF804B	88803734	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.246000	0.78247	2.736000	0.93811	0.655000	0.94253	CAT		0.453	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		T	88965798	C	T	88965798	3	4	60	1	0	0	0	0	1	0	0	0	18176	710	25	2	3516	2	ZNF804B	7	88965798	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	6419853	88965798	70172865	43	4229											
CLEC2L	154790	broad.mit.edu;ucsc.edu	37	7	139221070	139221070	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr7:139221070A>C	ENST00000422142.2	+	2	313	c.241A>C	c.(241-243)Atc>Ctc	p.I81L		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	81						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I81L(1)		NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					TCTGTTCGCCATCTTGGTGGT	0.522																																																1	Substitution - Missense(1)	kidney(1)											195	156	168					7																	139221070		692	1591	2283	SO:0001583	missense	154790			AK057548	CCDS47724.1	7q34	2011-05-18			ENSG00000236279	ENSG00000236279		"C-type lectin domain containing"	21969	protein-coding gene	gene with protein product							Standard	NM_001080511		Approved	FLJ32986	uc010lnd.3	P0C7M8	OTTHUMG00000164900	ENST00000422142.2:c.241A>C	7.37:g.139221070A>C	ENSP00000390661:p.Ile81Leu			Missense_Mutation	SNP	ENST00000422142.2	37	CCDS47724.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692598	0.30052	.	.	ENSG00000236279	ENST00000422142	T	0.16897	2.31	4.09	4.09	0.47781	.	.	.	.	.	T	0.08537	0.0212	N	0.12502	0.225	0.28578	N	0.910266	B	0.11235	0.004	B	0.06405	0.002	T	0.27226	-1.0080	9	0.08381	T	0.77	.	9.3772	0.38290	1.0:0.0:0.0:0.0	.	81	P0C7M8	CLC2L_HUMAN	L	81	ENSP00000390661:I81L	ENSP00000390661:I81L	I	+	1	0	CLEC2L	138871610	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.853000	0.55941	1.711000	0.51337	0.418000	0.28097	ATC		0.522	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380878.1	NM_001080511		C	139221070	A	C	139221070	3	2	60	1	0	0	0	0	1	0	0	0	3511	217	8	5	247	5	CLEC2L	7	139221070	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	50255272	139221070	19917593	44	4230											
MKRN1	23608	broad.mit.edu;hgsc.bcm.edu	37	7	140155662	140155662	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr7:140155662A>G	ENST00000255977.2	-	6	1249	c.1025T>C	c.(1024-1026)aTt>aCt	p.I342T	MKRN1_ENST00000474576.1_Missense_Mutation_p.I278T|MKRN1_ENST00000437223.2_Missense_Mutation_p.I76T	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	342					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I342T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTCACTTGGAATGACAAAGTT	0.473																																																1	Substitution - Missense(1)	kidney(1)											92	89	90					7																	140155662		2203	4300	6503	SO:0001583	missense	23608			AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1025T>C	7.37:g.140155662A>G	ENSP00000255977:p.Ile342Thr		A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588566	0.66105	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576;ENST00000463142	T;T;T	0.39997	1.05;1.36;1.05	5.14	5.14	0.70334	Zinc finger, RING/FYVE/PHD-type (1);	0.051756	0.64402	D	0.000001	T	0.54565	0.1866	L	0.45581	1.43	0.80722	D	1	D	0.56521	0.976	P	0.62560	0.904	T	0.53208	-0.8471	10	0.44086	T	0.13	.	15.1262	0.72483	1.0:0.0:0.0:0.0	.	342	Q9UHC7	MKRN1_HUMAN	T	342;278;76;278;17	ENSP00000255977:I342T;ENSP00000439823:I76T;ENSP00000417863:I278T	ENSP00000255977:I342T	I	-	2	0	MKRN1	139802131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.695000	0.91298	2.161000	0.67846	0.528000	0.53228	ATT		0.473	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		G	140155662	A	G	140155662	3	3	60	1	0	0	0	0	1	0	0	0	9608	101	4	3	435	3	MKRN1	7	140155662	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	934592	140155662	18983001	45	4231											
CUL1	8454	hgsc.bcm.edu;ucsc.edu	37	7	148486899	148486899	+	Frame_Shift_Del	DEL	C	C	-	rs151286359		TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr7:148486899delC	ENST00000325222.4	+	15	1934	c.1655delC	c.(1654-1656)acafs	p.T552fs	CUL1_ENST00000409469.1_Frame_Shift_Del_p.T552fs|CUL1_ENST00000602748.1_Frame_Shift_Del_p.T552fs	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	552					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAGTCTTGTACATTTGCCTTG	0.552																																																0													158	154	156					7																	148486899		2203	4300	6503	SO:0001589	frameshift_variant	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1655delC	7.37:g.148486899delC	ENSP00000326804:p.Thr552fs		D3DWG3|O60719|Q08AL6|Q8IYW1	Frame_Shift_Del	DEL	ENST00000325222.4	37	CCDS34772.1																																																																																				0.552	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		-	148486899	C	-	148486899	7	5	60	1	0	1	0	1	0	0	0	0	4056	478	17	0	1709	0	CUL1	7	148486899	Frame_Shift_Del	DEL	C	TCGA-A3-3387-01A-01D-1534-10	8331237	148486899	10651764	46	4232											
TRAM1	23471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	71508498	71508498	+	Splice_Site	SNP	G	G	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr8:71508498G>A	ENST00000262213.2	-	5	654	c.485C>T	c.(484-486)aCa>aTa	p.T162I	TRAM1_ENST00000521425.1_Splice_Site_p.T76I|TRAM1_ENST00000536748.1_Splice_Site_p.T131I|TRAM1_ENST00000521049.1_Intron	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	162	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T162I(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AATGACTTACGTCATCAGGTT	0.363																																					Ovarian(85;984 1334 5116 12432 40638)											1	Substitution - Missense(1)	kidney(1)											132	131	132					8																	71508498		2203	4300	6503	SO:0001630	splice_region_variant	23471			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.485+1C>T	8.37:g.71508498G>A			B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046930	0.55110	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.85484	-1.99;-1.99;-1.99	6.07	6.07	0.98685	TRAM/LAG1/CLN8 homology domain (3);	0.101168	0.64402	D	0.000002	T	0.82111	0.4966	L	0.50333	1.59	0.49213	D	0.999761	P	0.40180	0.705	B	0.34346	0.18	T	0.80084	-0.1530	9	.	.	.	-23.6136	20.6525	0.99598	0.0:0.0:1.0:0.0	.	162	Q15629	TRAM1_HUMAN	I	76;162;131	ENSP00000428052:T76I;ENSP00000262213:T162I;ENSP00000439359:T131I	.	T	-	2	0	TRAM1	71671052	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.817000	0.55668	2.890000	0.99128	0.585000	0.79938	ACA		0.363	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294	Missense_Mutation	A	71508498	G	A	71508498	5	1	60	1	0	0	0	0	0	0	1	0	16456	1159	40	1	667	1	TRAM1	8	71508498	Splice_Site	SNP	G	TCGA-A3-3387-01A-01D-1534-10		71508498	74855524	47	4233											
TG	7038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	133911118	133911118	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr8:133911118C>A	ENST00000220616.4	+	14	3333	c.3293C>A	c.(3292-3294)cCa>cAa	p.P1098Q	TG_ENST00000377869.1_Missense_Mutation_p.P1098Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1098	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.P1098Q(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAAGAAAACCCATCTCCAAAA	0.532																																																1	Substitution - Missense(1)	kidney(1)											75	63	67					8																	133911118		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3293C>A	8.37:g.133911118C>A	ENSP00000220616:p.Pro1098Gln		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.83|15.83	2.947779|2.947779	0.53186|0.53186	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000518505|ENST00000377869;ENST00000220616	.|T;T	.|0.61859	.|0.07;0.07	5.74|5.74	4.87|4.87	0.63330|0.63330	.|Thyroglobulin type-1 (4);	.|0.188178	.|0.37136	.|N	.|0.002230	T|T	0.62780|0.62780	0.2456|0.2456	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	.|P	.|0.49696	.|0.927	.|P	.|0.49192	.|0.602	T|T	0.59994|0.59994	-0.7349|-0.7349	5|10	.|0.59425	.|D	.|0.04	.|.	11.7474|11.7474	0.51828|0.51828	0.0:0.9183:0.0:0.0817|0.0:0.9183:0.0:0.0817	.|.	.|1098	.|P01266	.|THYG_HUMAN	N|Q	65|1098	.|ENSP00000367100:P1098Q;ENSP00000220616:P1098Q	.|ENSP00000220616:P1098Q	H|P	+|+	1|2	0|0	TG|TG	133980300|133980300	0.001000|0.001000	0.12720|0.12720	0.026000|0.026000	0.17262|0.17262	0.686000|0.686000	0.39977|0.39977	0.926000|0.926000	0.28804|0.28804	1.429000|1.429000	0.47314|0.47314	0.655000|0.655000	0.94253|0.94253	CAT|CCA		0.532	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	133911118	C	A	133911118	3	1	60	1	0	0	0	0	1	0	0	0	15818	594	21	4	3347	4	TG	8	133911118	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	62402620	133911118	12452904	48	4234											
KIAA1432	57589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	5763718	5763718	+	Silent	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr9:5763718C>T	ENST00000414202.2	+	19	2882	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	KIAA1432_ENST00000381532.2_Silent_p.F818F|KIAA1432_ENST00000449720.2_Silent_p.F781F|KIAA1432_ENST00000418622.3_Silent_p.F818F|KIAA1432_ENST00000251879.6_Silent_p.F897F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.F818F(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TCCCCCTCTTCCTGCAGACAG	0.498																																																1	Substitution - coding silent(1)	kidney(1)											110	107	108					9																	5763718		2203	4300	6503	SO:0001819	synonymous_variant	57589																														ENST00000414202.2:c.2691C>T	9.37:g.5763718C>T				Silent	SNP	ENST00000414202.2	37	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829846	0.16749	.	.	ENSG00000107036	ENST00000545641	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	T	0.77039	0.4072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74134	-0.3763	4	.	.	.	-18.288	20.3081	0.98638	0.0:1.0:0.0:0.0	.	.	.	.	S	789	.	.	P	+	1	0	KIAA1432	5753718	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.757000	0.68766	2.795000	0.96236	0.655000	0.94253	CCT		0.498	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			T	5763718	C	T	5763718	2	4	60	1	0	0	0	0	0	0	0	1	8235	854	30	2		2	KIAA1432	9	5763718	Silent	SNP	C	TCGA-A3-3387-01A-01D-1534-10		5763718	135449713	49	4235											
GOLM1	51280	broad.mit.edu;ucsc.edu	37	9	88648293	88648293	+	Silent	SNP	G	G	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr9:88648293G>A	ENST00000388712.3	-	9	1201	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Silent_p.L345L	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	345					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.L345L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCTCCTCTCAGTTTCTGCTGG	0.428																																																1	Substitution - coding silent(1)	kidney(1)											203	169	180					9																	88648293		2203	4299	6502	SO:0001819	synonymous_variant	51280			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1033C>T	9.37:g.88648293G>A			Q6IAF4|Q9NRB9	Silent	SNP	ENST00000388712.3	37	CCDS35054.1																																																																																				0.428	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		A	88648293	G	A	88648293	2	1	60	1	0	0	0	0	0	0	0	1	6569	1020	36	2		2	GOLM1	9	88648293	Silent	SNP	G	TCGA-A3-3387-01A-01D-1534-10	82884575	88648293	52565138	50	4236											
GPSM1	26086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139228923	139228923	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr9:139228923G>C	ENST00000440944.1	+	2	308	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	GPSM1_ENST00000392945.3_Missense_Mutation_p.E30Q	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	30	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)	p.E7Q(1)		biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GTCCTGCCTAGAGCTGGCGCT	0.657																																																1	Substitution - Missense(1)	kidney(1)											44	42	43					9																	139228923		2201	4299	6500	SO:0001583	missense	26086			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.88G>C	9.37:g.139228923G>C	ENSP00000392828:p.Glu30Gln		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	g	18.99	3.740183	0.69304	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;D	0.91464	-0.99;-0.99;-2.85	4.66	4.66	0.58398	.	0.000000	0.85682	U	0.000000	D	0.93475	0.7918	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.998;0.994	P;P	0.60286	0.831;0.872	D	0.94304	0.7539	10	0.72032	D	0.01	-15.3053	16.5367	0.84374	0.0:0.0:1.0:0.0	.	30;30	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	Q	30;30;7	ENSP00000376674:E30Q;ENSP00000392828:E30Q;ENSP00000346797:E7Q	ENSP00000346797:E7Q	E	+	1	0	GPSM1	138348744	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.695000	0.84257	2.113000	0.64589	0.556000	0.70494	GAG		0.657	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		C	139228923	G	C	139228923	3	2	60	1	0	0	0	0	1	0	0	0	6736	943	33	4	94	4	GPSM1	9	139228923	Missense_Mutation	SNP	G	TCGA-A3-3387-01A-01D-1534-10	50580630	139228923	1984508	51	4237											
PTCHD3	374308	broad.mit.edu	37	10	27702296	27702296	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr10:27702296A>G	ENST00000438700.3	-	1	1001	c.884T>C	c.(883-885)cTc>cCc	p.L295P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	295					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.L295P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGTCAGGTAGAGGGGATGCCT	0.612																																																1	Substitution - Missense(1)	kidney(1)											57	62	60					10																	27702296		2203	4300	6503	SO:0001583	missense	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.884T>C	10.37:g.27702296A>G	ENSP00000417658:p.Leu295Pro		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827530	0.50845	.	.	ENSG00000182077	ENST00000438700	D	0.87029	-2.2	3.98	3.98	0.46160	.	2.418810	0.01464	N	0.015986	D	0.82323	0.5012	N	0.20986	0.625	0.19300	N	0.999977	P	0.35383	0.498	B	0.40329	0.326	T	0.71735	-0.4503	10	0.32370	T	0.25	-0.4686	5.6906	0.17827	0.7608:0.0:0.0871:0.1521	.	295	Q3KNS1	PTHD3_HUMAN	P	295	ENSP00000417658:L295P	ENSP00000417658:L295P	L	-	2	0	PTCHD3	27742302	0.776000	0.28616	0.037000	0.18230	0.147000	0.21601	1.723000	0.38053	1.798000	0.52647	0.459000	0.35465	CTC		0.612	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		G	27702296	A	G	27702296	3	3	60	1	0	0	0	0	1	0	0	0	12739	304	11	3	1435	3	PTCHD3	10	27702296	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10		27702296	107832451	52	4238											
ZDHHC6	64429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	114201991	114201991	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr10:114201991A>G	ENST00000369405.3	-	4	901	c.478T>C	c.(478-480)Ttc>Ctc	p.F160L	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.F156L	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	160					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F160L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ACAAAAATGAAAGCAGCATGG	0.373																																																1	Substitution - Missense(1)	kidney(1)											120	108	112					10																	114201991		2203	4300	6503	SO:0001583	missense	64429			AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"Zinc fingers, DHHC-type"	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.478T>C	10.37:g.114201991A>G	ENSP00000358413:p.Phe160Leu		D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.127714	0.37533	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.20881	2.04;2.04	4.99	4.99	0.66335	.	0.183814	0.48286	D	0.000199	T	0.09598	0.0236	N	0.02708	-0.52	0.37607	D	0.920794	B;B	0.09022	0.002;0.002	B;B	0.14578	0.002;0.011	T	0.21314	-1.0249	10	0.14252	T	0.57	-1.7891	14.9655	0.71188	1.0:0.0:0.0:0.0	.	156;160	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	L	160;156	ENSP00000358413:F160L;ENSP00000358412:F156L	ENSP00000358412:F156L	F	-	1	0	ZDHHC6	114191981	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.014000	0.40951	2.002000	0.58637	0.377000	0.23210	TTC		0.373	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		G	114201991	A	G	114201991	3	3	60	1	0	0	0	0	1	0	0	0	17624	14	1	3	795	3	ZDHHC6	10	114201991	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	86499695	114201991	21332756	53	4239											
OR5D18	219438	hgsc.bcm.edu;ucsc.edu	37	11	55587894	55587896	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr11:55587894_55587896delCAA	ENST00000333976.4	+	1	809_811	c.789_791delCAA	c.(787-792)cccaac>ccc	p.N264del		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P263P(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTGTGTGCCCAACTCCAAAAAC	0.517																																																1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	219438			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.789_791delCAA	11.37:g.55587894_55587896delCAA	ENSP00000335025:p.Asn264del		Q6IF67|Q6IFD3|Q96RB3	In_Frame_Del	DEL	ENST00000333976.4	37	CCDS31510.1																																																																																				0.517	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		-	55587896	CAA	-	55587894	7	5	60	1	0	1	0	1	0	0	0	0	11159	581	21	0	791	0	OR5D18	11	55587894	In_Frame_Del	DEL	CAA	TCGA-A3-3387-01A-01D-1534-10		55587894	79418622	54	4240											
APOA5	116519	hgsc.bcm.edu;ucsc.edu	37	11	116660943	116660944	+	Frame_Shift_Ins	INS	-	-	C	rs147349873	byFrequency	TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr11:116660943_116660944insC	ENST00000227665.4	-	3	1035_1036	c.1001_1002insG	c.(1000-1002)ggcfs	p.G334fs	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Frame_Shift_Ins_p.G334fs			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	334					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TCAGAACCTTGCCACTGTCTGT	0.619																																																0																																										SO:0001589	frameshift_variant	116519			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.1002dupG	11.37:g.116660945_116660945dupC	ENSP00000227665:p.Gly334fs		B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Frame_Shift_Ins	INS	ENST00000227665.4	37	CCDS8376.2																																																																																				0.619	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			C	116660944	-	C	116660943	7	5	60	1	0	1	1	0	0	0	0	0	784	1306	46	0	102	0	APOA5	11	116660943	Frame_Shift_Ins	INS	-	TCGA-A3-3387-01A-01D-1534-10	61073049	116660943	18345573	55	4241											
SLC6A12	6539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	300301	300301	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr12:300301C>T	ENST00000428720.1	-	16	2521	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D	SLC6A12_ENST00000536824.1_Missense_Mutation_p.G593D|SLC6A12_ENST00000424061.2_Missense_Mutation_p.G593D|SLC6A12_ENST00000359674.4_Missense_Mutation_p.G593D|SLC6A12_ENST00000397296.2_Missense_Mutation_p.G593D|RP11-283I3.1_ENST00000544067.1_RNA	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	593					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.G593D(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AAAGTTCCGGCCAGCACTGCC	0.612																																																1	Substitution - Missense(1)	kidney(1)											50	43	45					12																	300301		2202	4298	6500	SO:0001583	missense	6539			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1778G>A	12.37:g.300301C>T	ENSP00000388184:p.Gly593Asp		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	C	9.474	1.096352	0.20552	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	4.39	-0.969	0.10310	.	.	.	.	.	T	0.48804	0.1520	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.25328	-1.0135	9	0.19147	T	0.46	.	6.8141	0.23820	0.0:0.3959:0.4352:0.1689	.	593	P48065	S6A12_HUMAN	D	593	ENSP00000352702:G593D;ENSP00000380464:G593D;ENSP00000388184:G593D;ENSP00000399136:G593D;ENSP00000444268:G593D	ENSP00000352702:G593D	G	-	2	0	SLC6A12	170562	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.074000	0.14662	-0.300000	0.08895	-0.165000	0.13383	GGC		0.612	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		T	300301	C	T	300301	3	4	60	1	0	0	0	0	1	0	0	0	14681	739	26	2	70	2	SLC6A12	12	300301	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10		300301	133551594	56	4242											
SLC6A13	6540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	336752	336752	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr12:336752T>C	ENST00000343164.4	-	8	966	c.914A>G	c.(913-915)aAg>aGg	p.K305R	SLC6A13_ENST00000445055.2_Missense_Mutation_p.K213R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	305					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.K305R(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTTGTGGTACTTGTTGTAGCT	0.567																																																1	Substitution - Missense(1)	kidney(1)											147	104	119					12																	336752		2203	4300	6503	SO:0001583	missense	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.914A>G	12.37:g.336752T>C	ENSP00000339260:p.Lys305Arg		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845071	0.51164	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.75589	-0.95;-0.95	5.75	3.26	0.37387	.	0.139643	0.64402	D	0.000004	T	0.71187	0.3310	L	0.58354	1.805	0.53005	D	0.999967	B;B;B	0.28512	0.128;0.214;0.113	B;B;B	0.37451	0.25;0.243;0.243	T	0.68209	-0.5469	10	0.45353	T	0.12	.	8.3088	0.32058	0.0:0.069:0.133:0.7979	.	213;284;305	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	R	213;284;305	ENSP00000407104:K213R;ENSP00000339260:K305R	ENSP00000318097:K284R	K	-	2	0	SLC6A13	207013	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.149000	0.58091	1.003000	0.39130	0.533000	0.62120	AAG		0.567	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		C	336752	T	C	336752	3	2	60	1	0	0	0	0	1	0	0	0	14682	1609	56	3	926	3	SLC6A13	12	336752	Missense_Mutation	SNP	T	TCGA-A3-3387-01A-01D-1534-10	36451	336752	133515143	57	4243											
MANSC1	54682	hgsc.bcm.edu;ucsc.edu	37	12	12491487	12491487	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr12:12491487delT	ENST00000535902.1	-	3	794	c.231delA	c.(229-231)aaafs	p.K77fs	MANSC1_ENST00000545735.1_5'UTR|MANSC1_ENST00000396349.3_Frame_Shift_Del_p.K43fs			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	77	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGTTACATGCTTTGTCCCCTG	0.408																																																0													155	153	154					12																	12491487		2203	4300	6503	SO:0001589	frameshift_variant	54682			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.231delA	12.37:g.12491487delT	ENSP00000438205:p.Lys77fs		Q8NEC1|Q9NW60	Frame_Shift_Del	DEL	ENST00000535902.1	37	CCDS8648.1																																																																																				0.408	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		-	12491487	T	-	12491487	7	5	60	1	0	1	0	1	0	0	0	0	9226	1606	56	0	1072	0	MANSC1	12	12491487	Frame_Shift_Del	DEL	T	TCGA-A3-3387-01A-01D-1534-10	12154735	12491487	121360408	58	4244											
GRIN2B	2904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	13906469	13906470	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr12:13906469_13906470CC>AT	ENST00000609686.1	-	3	1000_1001	c.791_792GG>AT	c.(790-792)gGG>gAT	p.G264D		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	264					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.G264G(1)|p.G264E(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTCTGTATCCCCTGCCACCAG	0.54																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.791_792delinsAT	12.37:g.13906469_13906470delinsAT	ENSP00000477455:p.Gly264Asp		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent|Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																				0.54	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			AT	13906470	CC	AT	13906469	3	1	60	1	0	0	0	0	1	0	0	0	6782	610	22	4	3706	4	GRIN2B	12	13906469	Missense_Mutation	DNP	CC	TCGA-A3-3387-01A-01D-1534-10	1414982	13906469	119945426	59	4245											
UBC	7316	broad.mit.edu;hgsc.bcm.edu	37	12	125397153	125397153	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr12:125397153T>C	ENST00000536769.1	-	1	2741	c.1165A>G	c.(1165-1167)Act>Gct	p.T389A	UBC_ENST00000546120.1_Missense_Mutation_p.T313A|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Missense_Mutation_p.T389A|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	389	Ubiquitin-like 6. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.T389A(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCTTACCAGTCAGGGTCTTC	0.532																																																1	Substitution - Missense(1)	kidney(1)											215	198	204					12																	125397153		2203	4296	6499	SO:0001583	missense	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1165A>G	12.37:g.125397153T>C	ENSP00000441543:p.Thr389Ala		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.743662	0.30865	.	.	ENSG00000150991	ENST00000536769;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.32023	1.47;1.47;1.47	3.34	3.34	0.38264	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.47093	U	0.000259	T	0.34164	0.0888	M	0.70275	2.135	0.80722	D	1	B	0.19331	0.035	B	0.28709	0.093	T	0.33548	-0.9864	10	0.87932	D	0	.	9.7647	0.40554	0.0:0.0:0.0:1.0	.	389	P0CG48	UBC_HUMAN	A	389;313;389;313	ENSP00000441543:T389A;ENSP00000344818:T389A;ENSP00000438394:T313A	ENSP00000344818:T389A	T	-	1	0	UBC	123963106	1.000000	0.71417	0.961000	0.40146	0.610000	0.37248	6.722000	0.74735	1.391000	0.46566	0.454000	0.30748	ACT		0.532	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		C	125397153	T	C	125397153	3	2	60	1	0	0	0	0	1	0	0	0	16847	1667	58	3	896	3	UBC	12	125397153	Missense_Mutation	SNP	T	TCGA-A3-3387-01A-01D-1534-10	111490684	125397153	8454742	60	4246											
COL4A1	1282	broad.mit.edu	37	13	110833684	110833684	+	Silent	SNP	C	C	T	rs565395841		TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr13:110833684C>T	ENST00000375820.4	-	29	2269	c.2148G>A	c.(2146-2148)ccG>ccA	p.P716P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	716	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P716P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CATTAAATCCCGGGCGACCTG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		16346	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											53	52	52					13																	110833684		2203	4300	6503	SO:0001819	synonymous_variant	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2148G>A	13.37:g.110833684C>T			A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	CCDS9511.1																																																																																				0.502	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			T	110833684	C	T	110833684	2	4	60	1	0	0	0	0	0	0	0	1	3691	639	23	1		1	COL4A1	13	110833684	Silent	SNP	C	TCGA-A3-3387-01A-01D-1534-10		110833684	4336194	61	4247											
PSMB5	5693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23504076	23504076	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr14:23504076G>T	ENST00000361611.6	-	1	278	c.15C>A	c.(13-15)agC>agA	p.S5R	PSMB5_ENST00000460922.2_Missense_Mutation_p.S5R|PSMB5_ENST00000493471.2_Missense_Mutation_p.S5R|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000425762.2_Intron	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	5				LAS -> HEG (in Ref. 6; BC004146). {ECO:0000305}.|LASV -> IRGR (in Ref. 8; BAA06097). {ECO:0000305}.	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)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.S5R(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	TCTCCAACACGCTGGCAAGCG	0.572																																																2	Substitution - Missense(2)	kidney(2)											37	36	36					14																	23504076		2203	4300	6503	SO:0001583	missense	5693			D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"Proteasome (prosome, macropain) subunits"	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.15C>A	14.37:g.23504076G>T	ENSP00000355325:p.Ser5Arg		B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217959	0.79352	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000460922	T;T;T	0.54071	0.59;0.59;0.59	5.22	1.38	0.22167	.	0.088006	0.85682	D	0.000000	T	0.52322	0.1727	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.983	T	0.49234	-0.8961	10	0.54805	T	0.06	-22.205	7.2166	0.25963	0.5179:0.0:0.4821:0.0	.	5;5	P28074-2;P28074	.;PSB5_HUMAN	R	5	ENSP00000355325:S5R;ENSP00000452424:S5R;ENSP00000451286:S5R	ENSP00000334973:S5R	S	-	3	2	PSMB5	22573916	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.527000	0.22987	0.223000	0.20920	0.555000	0.69702	AGC		0.572	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		T	23504076	G	T	23504076	3	4	60	1	0	0	0	0	1	0	0	0	12685	1078	38	4	877	4	PSMB5	14	23504076	Missense_Mutation	SNP	G	TCGA-A3-3387-01A-01D-1534-10		23504076	83845464	62	4248											
JAG2	3714	broad.mit.edu	37	14	105624079	105624079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr14:105624079C>A	ENST00000331782.3	-	3	842	c.439G>T	c.(439-441)Gag>Tag	p.E147*	JAG2_ENST00000347004.2_Nonsense_Mutation_p.E147*|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	147					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.E147*(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCCAGGCCTCCACGATGAGG	0.657																																																1	Substitution - Nonsense(1)	kidney(1)											78	59	65					14																	105624079		2183	4283	6466	SO:0001587	stop_gained	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.439G>T	14.37:g.105624079C>A	ENSP00000328169:p.Glu147*		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Nonsense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	42	9.270825	0.99120	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	.	.	.	2.8	2.8	0.32819	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.2736	0.60175	0.0:1.0:0.0:0.0	.	.	.	.	X	147	.	ENSP00000328169:E147X	E	-	1	0	JAG2	104695124	0.942000	0.31987	1.000000	0.80357	0.996000	0.88848	2.857000	0.48349	1.872000	0.54250	0.563000	0.77884	GAG		0.657	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			A	105624079	C	A	105624079	4	1	60	1	0	0	0	0	0	1	0	0	7937	864	30	4	3373	4	JAG2	14	105624079	Nonsense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	82120003	105624079	1725461	63	4249											
AKAP13	11214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	86123604	86123604	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr15:86123604A>G	ENST00000394518.2	+	7	2400	c.2305A>G	c.(2305-2307)Atg>Gtg	p.M769V	AKAP13_ENST00000361243.2_Missense_Mutation_p.M769V|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	769					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.M769V(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGTCCCTAAAATGGAGAAAGA	0.433																																					Melanoma(94;603 1453 3280 32295 32951)											1	Substitution - Missense(1)	kidney(1)											91	92	92					15																	86123604		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2305A>G	15.37:g.86123604A>G	ENSP00000378026:p.Met769Val		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378416	0.42207	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.09073	3.02;3.02	5.88	2.73	0.32206	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	0.999997	B;B	0.13594	0.005;0.008	B;B	0.13407	0.004;0.009	T	0.41858	-0.9485	9	0.56958	D	0.05	.	1.9672	0.03398	0.3917:0.0:0.3505:0.2578	.	769;769	Q12802;Q12802-2	AKP13_HUMAN;.	V	769;769;768;768	ENSP00000354718:M769V;ENSP00000378026:M769V	ENSP00000354718:M769V	M	+	1	0	AKAP13	83924608	0.015000	0.18098	0.000000	0.03702	0.718000	0.41266	1.461000	0.35255	0.235000	0.21160	0.533000	0.62120	ATG		0.433	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		G	86123604	A	G	86123604	3	3	60	1	0	0	0	0	1	0	0	0	449	101	4	3	2327	3	AKAP13	15	86123604	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10		86123604	16407788	64	4250											
ZC3H7A	29066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	11845212	11845212	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr16:11845212G>C	ENST00000396516.2	-	22	3074	c.2877C>G	c.(2875-2877)gaC>gaG	p.D959E	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.D959E|ZC3H7A_ENST00000575984.1_Missense_Mutation_p.D155E			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	959						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D959E(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						ATTTTCCAAAGTCATTATCAT	0.333																																																1	Substitution - Missense(1)	kidney(1)											107	96	99					16																	11845212		2197	4300	6497	SO:0001583	missense	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2877C>G	16.37:g.11845212G>C	ENSP00000379773:p.Asp959Glu		D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800547	0.70567	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.14893	2.47;2.47	5.8	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.31638	0.0803	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.03394	-1.1041	10	0.59425	D	0.04	.	13.5188	0.61555	0.0739:0.0:0.9261:0.0	.	959	Q8IWR0	Z3H7A_HUMAN	E	959	ENSP00000347999:D959E;ENSP00000379773:D959E	ENSP00000347999:D959E	D	-	3	2	ZC3H7A	11752713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.605000	0.61119	1.461000	0.47929	0.655000	0.94253	GAC		0.333	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		C	11845212	G	C	11845212	3	2	60	1	0	0	0	0	1	0	0	0	17577	1020	36	4	42	4	ZC3H7A	16	11845212	Missense_Mutation	SNP	G	TCGA-A3-3387-01A-01D-1534-10		11845212	78509541	65	4251											
RSL1D1	26156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	11935566	11935566	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr16:11935566T>G	ENST00000571133.1	-	7	913	c.841A>C	c.(841-843)Aat>Cat	p.N281H	RSL1D1_ENST00000542106.1_Missense_Mutation_p.N61H	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	281					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.N281H(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTCTTCTTATTAAGCAAAGAT	0.383																																																1	Substitution - Missense(1)	kidney(1)											54	56	55					16																	11935566		2197	4300	6497	SO:0001583	missense	26156			AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.841A>C	16.37:g.11935566T>G	ENSP00000460871:p.Asn281His		B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154414	0.38021	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T	0.44881	0.91	4.72	-3.3	0.05003	.	3.319120	0.00998	N	0.003628	T	0.31167	0.0788	N	0.22421	0.69	0.09310	N	1	P;P	0.38300	0.626;0.626	B;B	0.37601	0.254;0.254	T	0.35724	-0.9777	10	0.45353	T	0.12	12.8272	10.2998	0.43646	0.0:0.4823:0.0:0.5177	.	281;281	Q32Q62;O76021	.;RL1D1_HUMAN	H	280;281;61	ENSP00000347897:N280H	ENSP00000347897:N280H	N	-	1	0	RSL1D1	11843067	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.377000	0.07456	-0.681000	0.05204	0.402000	0.26972	AAT		0.383	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		G	11935566	T	G	11935566	3	3	60	1	0	0	0	0	1	0	0	0	13706	1754	61	5	643	5	RSL1D1	16	11935566	Missense_Mutation	SNP	T	TCGA-A3-3387-01A-01D-1534-10	90354	11935566	78419187	66	4252											
ZC3H18	124245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88690383	88690383	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr16:88690383C>T	ENST00000301011.5	+	11	2011	c.1811C>T	c.(1810-1812)tCg>tTg	p.S604L	ZC3H18_ENST00000452588.2_Missense_Mutation_p.S628L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	604	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S604L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCCTTCTCTTCGTCCCCGTCC	0.652																																					Ovarian(121;375 2276 20373 38669)											1	Substitution - Missense(1)	kidney(1)											92	82	86					16																	88690383		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1811C>T	16.37:g.88690383C>T	ENSP00000301011:p.Ser604Leu		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598685	0.66332	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.39997	1.05;1.05	4.83	4.83	0.62350	.	0.138277	0.49916	D	0.000122	T	0.51719	0.1691	L	0.54323	1.7	0.51482	D	0.999928	D;D	0.61080	0.989;0.989	P;P	0.53035	0.716;0.716	T	0.47824	-0.9087	10	0.33141	T	0.24	-3.342	17.8891	0.88866	0.0:1.0:0.0:0.0	.	628;604	E7ERS3;Q86VM9	.;ZCH18_HUMAN	L	604;572;628	ENSP00000301011:S604L;ENSP00000416951:S628L	ENSP00000289509:S572L	S	+	2	0	ZC3H18	87217884	0.981000	0.34729	0.997000	0.53966	0.710000	0.40934	3.993000	0.56987	2.399000	0.81585	0.655000	0.94253	TCG		0.652	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		T	88690383	C	T	88690383	3	4	60	1	0	0	0	0	1	0	0	0	17573	893	31	1	1849	1	ZC3H18	16	88690383	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	76754817	88690383	1664370	67	4253											
FANCA	2175	broad.mit.edu;ucsc.edu	37	16	89836339	89836339	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr16:89836339C>T	ENST00000389301.3	-	26	2440	c.2410G>A	c.(2410-2412)Ggt>Agt	p.G804S	FANCA_ENST00000568369.1_Missense_Mutation_p.G804S|FANCA_ENST00000567284.2_5'Flank	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	804					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G804S(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCAGGAGGACCCACATCCACC	0.637			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	1	Substitution - Missense(1)	kidney(1)											89	66	74					16																	89836339		2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2410G>A	16.37:g.89836339C>T	ENSP00000373952:p.Gly804Ser		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	9.440	1.087899	0.20390	.	.	ENSG00000187741	ENST00000389301	D	0.84442	-1.85	3.97	0.856	0.19019	.	0.825105	0.10545	N	0.662265	T	0.66906	0.2837	N	0.25144	0.715	0.09310	N	1	B;B	0.31680	0.335;0.335	B;B	0.26614	0.071;0.071	T	0.54043	-0.8352	10	0.07030	T	0.85	-5.9723	3.9982	0.09568	0.0:0.5821:0.1983:0.2196	.	804;804	B4DRI7;O15360	.;FANCA_HUMAN	S	804	ENSP00000373952:G804S	ENSP00000373952:G804S	G	-	1	0	FANCA	88363840	0.000000	0.05858	0.001000	0.08648	0.307000	0.27823	0.108000	0.15396	0.243000	0.21327	0.650000	0.86243	GGT		0.637	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			T	89836339	C	T	89836339	3	4	60	1	0	0	0	0	1	0	0	0	5664	623	22	2	2029	2	FANCA	16	89836339	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10	1145956	89836339	518414	68	4254											
MYH13	8735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10261145	10261145	+	Splice_Site	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr17:10261145C>T	ENST00000418404.3	-	7	809		c.e7-1		MYH13_ENST00000252172.4_Splice_Site			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle						cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.?(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTAGGGTTCCCTAATAATAAA	0.453																																																2	Unknown(2)	kidney(2)											69	75	73					17																	10261145		2145	4272	6417	SO:0001630	splice_region_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.646-1G>A	17.37:g.10261145C>T			O95252|Q9P0U8	Splice_Site	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846512	0.51164	.	.	ENSG00000006788	ENST00000252172	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5222	0.84320	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH13	10201870	1.000000	0.71417	0.996000	0.52242	0.487000	0.33371	7.492000	0.81482	2.200000	0.70718	0.467000	0.42956	.		0.453	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	Intron	T	10261145	C	T	10261145	5	4	60	1	0	0	0	0	0	0	1	0	10034	695	24	2	5307	2	MYH13	17	10261145	Splice_Site	SNP	C	TCGA-A3-3387-01A-01D-1534-10		10261145	70934065	69	4255											
HEXIM1	10614	broad.mit.edu	37	17	43226612	43226612	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr17:43226612A>C	ENST00000332499.2	+	1	1929	c.55A>C	c.(55-57)Aca>Cca	p.T19P	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	19					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)	p.T19P(1)		breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TAGCAACTGTACAGGTGCTGC	0.552											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											85	97	93					17																	43226612		2203	4299	6502	SO:0001583	missense	10614			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.55A>C	17.37:g.43226612A>C	ENSP00000328773:p.Thr19Pro	914	B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329802	0.24167	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.27	3.19	0.36642	.	0.757107	0.10832	U	0.629172	T	0.39145	0.1067	L	0.44542	1.39	0.34065	D	0.657781	P	0.45176	0.852	B	0.41332	0.354	T	0.49485	-0.8935	9	0.51188	T	0.08	-0.189	6.318	0.21202	0.887:0.0:0.113:0.0	.	19	O94992	HEXI1_HUMAN	P	19	.	ENSP00000328773:T19P	T	+	1	0	HEXIM1	40582395	1.000000	0.71417	0.999000	0.59377	0.443000	0.32047	1.523000	0.35932	0.696000	0.31696	0.533000	0.62120	ACA		0.552	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		C	43226612	A	C	43226612	3	2	60	1	0	0	0	0	1	0	0	0	7078	391	14	5	57	5	HEXIM1	17	43226612	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	32965467	43226612	37968598	70	4256											
DSEL	92126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	65181609	65181609	+	Silent	SNP	A	A	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr18:65181609A>T	ENST00000310045.7	-	2	1740	c.267T>A	c.(265-267)tcT>tcA	p.S89S	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	79					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.S89S(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGCTTGCACGAGACTTTTGTC	0.408																																																1	Substitution - coding silent(1)	kidney(1)											124	110	115					18																	65181609		2203	4300	6503	SO:0001819	synonymous_variant	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.267T>A	18.37:g.65181609A>T			Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	CCDS11995.1																																																																																				0.408	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		T	65181609	A	T	65181609	2	4	60	1	0	0	0	0	0	0	0	1	4777	291	11	5		5	DSEL	18	65181609	Silent	SNP	A	TCGA-A3-3387-01A-01D-1534-10		65181609	12895639	71	4257											
TUBB4	10382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6496076	6496076	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr19:6496076G>T	ENST00000264071.2	-	4	805	c.434C>A	c.(433-435)tCc>tAc	p.S145Y	TUBB4A_ENST00000540257.1_Missense_Mutation_p.S145Y|TUBB4A_ENST00000601152.1_3'UTR|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	145					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S145Y(1)									GCCCATTCCGGACCCCGTGCC	0.637																																																1	Substitution - Missense(1)	kidney(1)											97	83	88					19																	6496076		2203	4300	6503	SO:0001583	missense	0			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.434C>A	19.37:g.6496076G>T	ENSP00000264071:p.Ser145Tyr		B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478883	0.44044	.	.	ENSG00000104833	ENST00000264071;ENST00000540257	D;D	0.82167	-1.58;-1.58	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000002	D	0.95974	0.8689	H	0.99987	5.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.97955	1.0334	10	0.87932	D	0	.	14.999	0.71455	0.0:0.0:1.0:0.0	.	145	P04350	TBB4A_HUMAN	Y	145	ENSP00000264071:S145Y;ENSP00000443590:S145Y	ENSP00000264071:S145Y	S	-	2	0	TUBB4	6447076	1.000000	0.71417	0.676000	0.29932	0.703000	0.40648	9.700000	0.98707	1.795000	0.52594	0.549000	0.68633	TCC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		T	6496076	G	T	6496076	3	4	60	1	0	0	0	0	1	0	0	0	16763	1174	41	4	904	4	TUBB4	19	6496076	Missense_Mutation	SNP	G	TCGA-A3-3387-01A-01D-1534-10		6496076	52632907	72	4258											
FAM187B	148109	broad.mit.edu	37	19	35716084	35716084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr19:35716084delG	ENST00000324675.3	-	2	802	c.754delC	c.(754-756)ctgfs	p.L252fs		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	252						integral component of membrane (GO:0016021)		p.L252fs*1(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TCCCACGTCAGGGGGGTGTCG	0.657																																																1	Deletion - Frameshift(1)	large_intestine(1)											11	11	11					19																	35716084		2187	4279	6466	SO:0001589	frameshift_variant	148109			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.754delC	19.37:g.35716084delG	ENSP00000323355:p.Leu252fs		Q8N7G6	Frame_Shift_Del	DEL	ENST00000324675.3	37	CCDS12448.1																																																																																				0.657	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		-	35716084	G	-	35716084	7	5	60	1	0	1	0	1	0	0	0	0	5515	991	35	0	359	0	FAM187B	19	35716084	Frame_Shift_Del	DEL	G	TCGA-A3-3387-01A-01D-1534-10	29220008	35716084	23412899	73	4259											
ZNF570	148268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37975663	37975663	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr19:37975663A>G	ENST00000330173.1	+	5	1668	c.1139A>G	c.(1138-1140)cAt>cGt	p.H380R	ZNF570_ENST00000388801.3_Missense_Mutation_p.H177R|ZNF570_ENST00000586475.1_Missense_Mutation_p.H436R	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H380R(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGAATACATACTGGAGAG	0.423																																																1	Substitution - Missense(1)	kidney(1)											81	79	79					19																	37975663		2203	4300	6503	SO:0001583	missense	148268			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1139A>G	19.37:g.37975663A>G	ENSP00000331540:p.His380Arg		A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.009715	0.54361	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.67523	-0.27;-0.27	4.17	4.17	0.49024	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39544	N	0.001322	D	0.82646	0.5082	M	0.87971	2.92	0.42463	D	0.992796	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86127	0.1572	10	0.87932	D	0	.	12.6097	0.56544	1.0:0.0:0.0:0.0	.	177;380	B4DMP1;Q96NI8	.;ZN570_HUMAN	R	380;177	ENSP00000331540:H380R;ENSP00000373453:H177R	ENSP00000331540:H380R	H	+	2	0	ZNF570	42667503	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.820000	0.75267	1.874000	0.54306	0.455000	0.32223	CAT		0.423	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		G	37975663	A	G	37975663	3	3	60	1	0	0	0	0	1	0	0	0	18007	217	8	3	1153	3	ZNF570	19	37975663	Missense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	2259579	37975663	21153320	74	4260											
PSG11	5680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	43519423	43519423	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr19:43519423T>C	ENST00000401740.1	-	4	912	c.809A>G	c.(808-810)cAg>cGg	p.Q270R	PSG11_ENST00000403486.1_Missense_Mutation_p.Q148R|PSG11_ENST00000320078.7_Missense_Mutation_p.Q270R|PSG11_ENST00000306322.7_Missense_Mutation_p.Q148R|PSG11_ENST00000595312.1_5'Flank			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	267	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.Q270R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCAAGAATACTGTGCTGGTGG	0.458																																																1	Substitution - Missense(1)	kidney(1)											151	157	155					19																	43519423		2200	4297	6497	SO:0001583	missense	5680			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.809A>G	19.37:g.43519423T>C	ENSP00000384995:p.Gln270Arg		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	t	4.113	0.019049	0.08006	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	0.976	0.976	0.19727	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11750	0.0286	L	0.43923	1.385	0.09310	N	1	B;B	0.24092	0.097;0.0	B;B	0.29716	0.106;0.017	T	0.33343	-0.9872	9	0.51188	T	0.08	.	4.0943	0.09983	0.0:0.0:0.0:1.0	.	148;270	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	R	270;148;148;270	ENSP00000319140:Q270R;ENSP00000385427:Q148R;ENSP00000304913:Q148R;ENSP00000384995:Q270R	ENSP00000304913:Q148R	Q	-	2	0	PSG11	48211263	0.124000	0.22315	0.233000	0.24025	0.042000	0.13812	0.487000	0.22356	0.382000	0.24878	0.155000	0.16302	CAG		0.458	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		C	43519423	T	C	43519423	3	2	60	1	0	0	0	0	1	0	0	0	12659	1580	55	3	206	3	PSG11	19	43519423	Missense_Mutation	SNP	T	TCGA-A3-3387-01A-01D-1534-10	5543760	43519423	15609560	75	4261											
ZFP112	7771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44833539	44833539	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr19:44833539A>T	ENST00000337401.4	-	5	877	c.789T>A	c.(787-789)taT>taA	p.Y263*	ZNF112_ENST00000354340.4_Nonsense_Mutation_p.Y257*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Y280*	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y257*(1)|p.Y263*(1)									AGGCTTTTCTATACCCAGTAC	0.433																																																2	Substitution - Nonsense(2)	kidney(2)											103	102	102					19																	44833539		2203	4300	6503	SO:0001587	stop_gained	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.789T>A	19.37:g.44833539A>T	ENSP00000337081:p.Tyr263*		A4FU53|Q9HCA7	Nonsense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	A	34	5.406805	0.96051	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	.	.	.	5.38	0.457	0.16661	.	0.274634	0.19609	N	0.110199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-1.535	4.5255	0.11980	0.4795:0.1666:0.3539:0.0	.	.	.	.	X	263;263;257;280;262	.	ENSP00000253426:Y262X	Y	-	3	2	ZNF285	49525379	.	.	0.000000	0.03702	0.598000	0.36846	.	.	0.176000	0.19873	0.459000	0.35465	TAT		0.433	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		T	44833539	A	T	44833539	4	4	60	1	0	0	0	0	0	1	0	0	17643	456	16	5	1956	5	ZFP112	19	44833539	Nonsense_Mutation	SNP	A	TCGA-A3-3387-01A-01D-1534-10	1314116	44833539	14295444	76	4262											
PCNA	5111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	5099285	5099285	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr20:5099285C>T	ENST00000379160.3	-	4	600	c.358G>A	c.(358-360)Gat>Aat	p.D120N	PCNA_ENST00000379143.5_Missense_Mutation_p.D120N|SNORA26_ENST00000391215.1_RNA	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	120					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)	p.D120N(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						ACATCTAAATCCATCAACTTC	0.363								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	kidney(1)											147	141	143					20																	5099285		2203	4300	6503	SO:0001583	missense	5111			J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.358G>A	20.37:g.5099285C>T	ENSP00000368458:p.Asp120Asn		B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841850	0.51057	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	4.46	4.46	0.54185	Proliferating cell nuclear antigen, PCNA, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	L	0.56280	1.765	0.80722	D	1	B	0.22003	0.063	B	0.34824	0.19	T	0.60576	-0.7236	9	0.35671	T	0.21	-14.3929	14.6506	0.68794	0.0:1.0:0.0:0.0	.	120	P12004	PCNA_HUMAN	N	120	.	ENSP00000368438:D120N	D	-	1	0	PCNA	5047285	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.734000	0.68580	2.304000	0.77564	0.557000	0.71058	GAT		0.363	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2			T	5099285	C	T	5099285	3	4	60	1	0	0	0	0	1	0	0	0	11590	855	30	2	443	2	PCNA	20	5099285	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10		5099285	57926235	77	4263											
MICAL3	57553	broad.mit.edu;ucsc.edu	37	22	18382309	18382309	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chr22:18382309C>T	ENST00000441493.2	-	7	1205	c.853G>A	c.(853-855)Gac>Aac	p.D285N	MICAL3_ENST00000383094.3_Missense_Mutation_p.D285N|MICAL3_ENST00000444520.1_Missense_Mutation_p.D285N|MICAL3_ENST00000400561.2_Missense_Mutation_p.D285N|MICAL3_ENST00000585038.1_Missense_Mutation_p.D285N|MICAL3_ENST00000429452.1_Missense_Mutation_p.D285N|MICAL3_ENST00000414725.2_Missense_Mutation_p.D285N|MICAL3_ENST00000207726.7_Missense_Mutation_p.D285N	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	285	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.D285N(3)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTCTCCAAGTCAATACCTGGG	0.453																																																3	Substitution - Missense(3)	kidney(3)											140	111	120					22																	18382309		1568	3581	5149	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.853G>A	22.37:g.18382309C>T	ENSP00000416015:p.Asp285Asn		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675954	0.96764	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	M	0.92268	3.29	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.984;1.0;1.0;0.984	D;D;D;D;D	0.76575	0.921;0.93;0.983;0.988;0.93	T	0.55704	-0.8099	10	0.87932	D	0	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	285;285;285;285;285	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	N	285	ENSP00000416015:D285N;ENSP00000414846:D285N;ENSP00000383406:D285N;ENSP00000410315:D285N;ENSP00000391827:D285N;ENSP00000372574:D285N;ENSP00000207726:D285N	ENSP00000207726:D285N	D	-	1	0	XXbac-B461K10.4;MICAL3	16762309	1.000000	0.71417	0.623000	0.29173	0.917000	0.54804	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	GAC		0.453	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			T	18382309	C	T	18382309	3	4	60	1	0	0	0	0	1	0	0	0	9573	826	29	2	5996	2	MICAL3	22	18382309	Missense_Mutation	SNP	C	TCGA-A3-3387-01A-01D-1534-10		18382309	32922257	78	4264											
GPR64	10149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	19026097	19026097	+	Splice_Site	SNP	C	C	T			TCGA-A3-3387-01A-01D-1534-10	TCGA-A3-3387-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e9e149ff-79e0-48f9-9262-1fbbad865e77	e6bb2386-fa1d-4b73-b853-ce904e1fd667	g.chrX:19026097C>T	ENST00000379869.3	-	19	1730		c.e19+1		GPR64_ENST00000379873.2_Splice_Site|GPR64_ENST00000357991.3_Splice_Site|GPR64_ENST00000379876.1_Splice_Site|GPR64_ENST00000360279.4_Splice_Site|GPR64_ENST00000379878.3_Splice_Site|GPR64_ENST00000357544.3_Splice_Site|GPR64_ENST00000356606.4_Splice_Site|GPR64_ENST00000354791.3_Splice_Site|GPR64_ENST00000340581.3_Intron	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.?(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGCAGTTTTACCTGAAACAAA	0.408																																																1	Unknown(1)	kidney(1)											63	55	58					X																	19026097		2203	4300	6503	SO:0001630	splice_region_variant	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1566+1G>A	X.37:g.19026097C>T			B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Splice_Site	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285319	0.80803	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.363	0.90382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPR64	18936018	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.045000	0.76585	2.275000	0.75901	0.600000	0.82982	.		0.408	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		Intron	T	19026097	C	T	19026097	5	4	60	1	0	0	0	0	0	0	1	0	6707	521	18	2	1530	2	GPR64	23	19026097	Splice_Site	SNP	C	TCGA-A3-3387-01A-01D-1534-10		19026097	136244463	79	4265											
NCOA1	8648	hgsc.bcm.edu	37	2	24991159	24991159	+	Silent	SNP	C	C	T			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr2:24991159C>T	ENST00000406961.1	+	23	4877	c.4225C>T	c.(4225-4227)Ctg>Ttg	p.L1409L	NCOA1_ENST00000405141.1_3'UTR|NCOA1_ENST00000348332.3_Silent_p.L1409L|NCOA1_ENST00000288599.5_3'UTR|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.L1408L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1409					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACCCTTACCTGAACCAGCC	0.532			T	PAX3	alveolar rhadomyosarcoma																																		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													89	90	90					2																	24991159		2203	4300	6503	SO:0001819	synonymous_variant	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4225C>T	chr2.hg19:g.24991159C>T			O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	hg19	CCDS1712.1																																																																																				0.532	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		T	24991159	C	T	24991159	2	4	61	1	0	0	0	0	0	0	0	1	10230	680	24	2		2	NCOA1	2	24991159	Silent	SNP	C	TCGA-A4-7286-01A-11D-2136-08		24991159	218208214	1	4266											
CCDC75	253635	hgsc.bcm.edu	37	2	37319335	37319336	+	Missense_Mutation	DNP	AA	AA	CT			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr2:37319335_37319336AA>CT	ENST00000608836.1	+	6	610_611	c.465_466AA>CT	c.(463-468)gaAAtg>gaCTtg	p.155_156EM>DL	GPATCH11_ENST00000281932.5_Missense_Mutation_p.52_53EM>DL|GPATCH11_ENST00000409774.1_Missense_Mutation_p.181_182EM>DL	NM_174931.2	NP_777591.3	Q8N954	GPT11_HUMAN	G patch domain containing 11	155							nucleic acid binding (GO:0003676)										AGCAAGATGAAATGAAGCTAGA	0.361																																																0																																										SO:0001583	missense	253635			AK095667	CCDS1785.2, CCDS62891.1, CCDS1785.3	2p22.2	2013-11-05	2013-01-28	2013-01-28	ENSG00000152133	ENSG00000152133		"G patch domain containing"	26768	protein-coding gene	gene with protein product	"centromere protein Y"		"coiled-coil domain containing 75"	CCDC75			Standard	NM_001278505		Approved	FLJ38348, CENPY, CENP-Y	uc010ezz.3	Q8N954	OTTHUMG00000128469	Exception_encountered	chr2.hg19:g.37319335_37319336delinsCT	ENSP00000476383:p.E155_M156delinsDL		A8K0D9|B7Z2G4|B8ZZ44	Missense_Mutation	SNP	ENST00000608836.1	hg19	CCDS1785.2																																																																																				0.361	GPATCH11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_174931		CT	37319336	AA	CT	37319335	3	2	61	1	0	0	0	0	1	0	0	0	2851	11	1	5	483	5	CCDC75	2	37319335	Missense_Mutation	DNP	AA	TCGA-A4-7286-01A-11D-2136-08	12328176	37319335	205880038	2	4267											
RTKN	6242	hgsc.bcm.edu	37	2	74657398	74657398	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr2:74657398A>G	ENST00000233330.6	-	5	693	c.376T>C	c.(376-378)Ttt>Ctt	p.F126L	RTKN_ENST00000484453.1_5'Flank|RTKN_ENST00000272430.5_Missense_Mutation_p.F176L|RTKN_ENST00000305557.5_Missense_Mutation_p.F163L	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TTGCTCTGAAAGGAGATGTCT	0.562																																																0													101	89	93					2																	74657398		2203	4300	6503	SO:0001583	missense	6242			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"Pleckstrin homology (PH) domain containing"	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.376T>C	chr2.hg19:g.74657398A>G	ENSP00000233330:p.Phe126Leu			Missense_Mutation	SNP	ENST00000233330.6	hg19	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.037389	0.93630	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.53857	0.6;0.6;0.6	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	M	0.81112	2.525	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74494	-0.3647	10	0.48119	T	0.1	.	12.7658	0.57391	1.0:0.0:0.0:0.0	.	176;163	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	L	163;176;126	ENSP00000305298:F163L;ENSP00000272430:F176L;ENSP00000233330:F126L	ENSP00000233330:F126L	F	-	1	0	RTKN	74510906	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.671000	0.91174	2.111000	0.64477	0.460000	0.39030	TTT		0.562	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		G	74657398	A	G	74657398	3	3	61	1	0	0	0	0	1	0	0	0	13728	72	3	3	1197	3	RTKN	2	74657398	Missense_Mutation	SNP	A	TCGA-A4-7286-01A-11D-2136-08	37338063	74657398	168541975	3	4268											
SPOPL	339745	hgsc.bcm.edu	37	2	139308572	139308572	+	Silent	SNP	A	A	G			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr2:139308572A>G	ENST00000280098.4	+	4	679	c.300A>G	c.(298-300)gcA>gcG	p.A100A		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	100	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AAGTTCGAGCAAAATTCAAAT	0.368																																																0													69	73	72					2																	139308572		2203	4299	6502	SO:0001819	synonymous_variant	339745				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"BTB/POZ domain containing"	27934	protein-coding gene	gene with protein product	"HIB homolog 2", "roadkill homolog 2"						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.300A>G	chr2.hg19:g.139308572A>G				Silent	SNP	ENST00000280098.4	hg19	CCDS33298.1																																																																																				0.368	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			G	139308572	A	G	139308572	2	3	61	1	0	0	0	0	0	0	0	1	15090	117	5	3		3	SPOPL	2	139308572	Silent	SNP	A	TCGA-A4-7286-01A-11D-2136-08	64651174	139308572	103890801	4	4269											
KYNU	8942	hgsc.bcm.edu	37	2	143718222	143718222	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr2:143718222C>G	ENST00000264170.4	+	8	870	c.612C>G	c.(610-612)atC>atG	p.I204M	KYNU_ENST00000375773.2_Missense_Mutation_p.I204M|KYNU_ENST00000409512.1_Missense_Mutation_p.I204M	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TAGAGGATATCCTTGAAGTAA	0.368																																																0													105	106	106					2																	143718222		2203	4300	6503	SO:0001583	missense	8942			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.612C>G	chr2.hg19:g.143718222C>G	ENSP00000264170:p.Ile204Met			Missense_Mutation	SNP	ENST00000264170.4	hg19	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960574	0.53400	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.58797	0.31;0.31;0.31	5.35	-0.683	0.11335	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	M	0.93898	3.47	0.80722	D	1	D;D	0.76494	0.975;0.999	D;D	0.85130	0.927;0.997	T	0.72567	-0.4254	10	0.72032	D	0.01	.	6.1677	0.20400	0.123:0.4133:0.0:0.4637	.	204;204	Q16719;Q9BVW3	KYNU_HUMAN;.	M	204	ENSP00000264170:I204M;ENSP00000364928:I204M;ENSP00000386731:I204M	ENSP00000264170:I204M	I	+	3	3	KYNU	143434692	0.998000	0.40836	0.989000	0.46669	0.991000	0.79684	0.528000	0.23002	-0.374000	0.07967	-0.147000	0.13772	ATC		0.368	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		G	143718222	C	G	143718222	3	3	61	1	0	0	0	0	1	0	0	0	8589	845	30	4	638	4	KYNU	2	143718222	Missense_Mutation	SNP	C	TCGA-A4-7286-01A-11D-2136-08	4409650	143718222	99481151	5	4270											
LY75	4065	hgsc.bcm.edu	37	2	160665004	160665004	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr2:160665004T>C	ENST00000263636.4	-	33	4805	c.4778A>G	c.(4777-4779)aAc>aGc	p.N1593S	LY75_ENST00000554112.1_Missense_Mutation_p.N1593S|LY75_ENST00000553424.1_Missense_Mutation_p.N1593S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.N1593S|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N1593S	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1593	C-type lectin 10. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CATGGTAATGTTATTATTTTC	0.338																																																0													224	217	219					2																	160665004		2202	4299	6501	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4778A>G	chr2.hg19:g.160665004T>C	ENSP00000263636:p.Asn1593Ser		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	hg19	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.491766	0.26774	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25	5.55	5.55	0.83447	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.242632	0.21380	U	0.075495	T	0.09818	0.0241	L	0.33710	1.025	0.26761	N	0.969999	B;P;D	0.53619	0.082;0.912;0.961	B;P;P	0.52066	0.087;0.574;0.689	T	0.09422	-1.0675	10	0.08381	T	0.77	-17.923	9.2003	0.37254	0.2708:0.0:0.0:0.7292	.	1593;1593;1593	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	S	1593	ENSP00000451511:N1593S;ENSP00000451446:N1593S;ENSP00000263636:N1593S;ENSP00000423463:N1593S;ENSP00000421035:N1593S	ENSP00000423463:N1593S	N	-	2	0	LY75;LY75-CD302	160373250	0.999000	0.42202	0.998000	0.56505	0.984000	0.73092	2.859000	0.48364	2.105000	0.64084	0.402000	0.26972	AAC		0.338	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			C	160665004	T	C	160665004	3	2	61	1	0	0	0	0	1	0	0	0	9101	1725	60	3	402	3	LY75	2	160665004	Missense_Mutation	SNP	T	TCGA-A4-7286-01A-11D-2136-08	16946782	160665004	82534369	6	4271											
CCNG2	901	hgsc.bcm.edu	37	4	78082688	78082688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr4:78082688C>T	ENST00000316355.5	+	5	939	c.583C>T	c.(583-585)Cga>Tga	p.R195*	CCNG2_ENST00000354403.5_Nonsense_Mutation_p.R195*|CCNG2_ENST00000502280.1_Nonsense_Mutation_p.R195*|CCNG2_ENST00000509972.1_Nonsense_Mutation_p.R195*|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Nonsense_Mutation_p.R195*	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	195					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGCAACTGCCGACTCATCTT	0.294																																																0													52	59	57					4																	78082688		2202	4300	6502	SO:0001587	stop_gained	901			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.583C>T	chr4.hg19:g.78082688C>T	ENSP00000315743:p.Arg195*		B4DF25|Q6FGA7|Q6FGC6	Nonsense_Mutation	SNP	ENST00000316355.5	hg19	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	C	38	6.688916	0.97764	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000509972	.	.	.	5.52	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4327	15.8563	0.78979	0.1366:0.8634:0.0:0.0	.	.	.	.	X	195	.	ENSP00000315743:R195X	R	+	1	2	CCNG2	78301712	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.923000	0.48868	1.331000	0.45412	-0.152000	0.13540	CGA		0.294	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		T	78082688	C	T	78082688	4	4	61	1	0	0	0	0	0	1	0	0	2926	644	23	1	597	1	CCNG2	4	78082688	Nonsense_Mutation	SNP	C	TCGA-A4-7286-01A-11D-2136-08		78082688	113071588	7	4272											
SYNPO2	171024	hgsc.bcm.edu	37	4	119952706	119952706	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr4:119952706A>T	ENST00000429713.2	+	4	2958	c.2776A>T	c.(2776-2778)Aat>Tat	p.N926Y	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.N926Y|SYNPO2_ENST00000434046.2_Missense_Mutation_p.N926Y	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	926						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGTGGCCTATAATCCTATCCA	0.572																																																0													87	82	84					4																	119952706		2203	4300	6503	SO:0001583	missense	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2776A>T	chr4.hg19:g.119952706A>T	ENSP00000395143:p.Asn926Tyr		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	hg19	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.960913|3.960913	0.74016|0.74016	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.15017|.	2.46;2.58;2.46|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|.	0.77239|.	0.4101|.	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.997|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.997;0.991|.	T|.	0.78874|.	-0.2032|.	9|.	.|.	.|.	.|.	-24.3416|-24.3416	15.8861|15.8861	0.79251|0.79251	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	926;926;926;926|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	Y|L	926|877	ENSP00000306015:N926Y;ENSP00000395143:N926Y;ENSP00000390965:N926Y|.	.|.	N|X	+|+	1|2	0|2	SYNPO2|SYNPO2	120172154|120172154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.913000|0.913000	0.54294|0.54294	9.339000|9.339000	0.96797|0.96797	2.156000|2.156000	0.67533|0.67533	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.572	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			T	119952706	A	T	119952706	3	4	61	1	0	0	0	0	1	0	0	0	15462	362	13	5	2790	5	SYNPO2	4	119952706	Missense_Mutation	SNP	A	TCGA-A4-7286-01A-11D-2136-08	41870018	119952706	71201570	8	4273											
FTMT	94033	hgsc.bcm.edu	37	5	121188229	121188229	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr5:121188229G>A	ENST00000321339.1	+	1	580	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	191	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCATTTGTGCGATTTCCTGGA	0.507																																																0													133	130	131					5																	121188229		2203	4300	6503	SO:0001583	missense	94033			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.571G>A	chr5.hg19:g.121188229G>A	ENSP00000313691:p.Asp191Asn			Missense_Mutation	SNP	ENST00000321339.1	hg19	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316794	0.81469	.	.	ENSG00000181867	ENST00000321339	T	0.70516	-0.49	3.39	3.39	0.38822	Ferritin/ribonucleotide reductase-like (1);Ferritin, conserved site (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	M	0.67700	2.07	0.58432	D	0.999999	P	0.52577	0.954	P	0.57548	0.823	T	0.81355	-0.0970	10	0.72032	D	0.01	.	13.0805	0.59112	0.0:0.0:1.0:0.0	.	191	Q8N4E7	FTMT_HUMAN	N	191	ENSP00000313691:D191N	ENSP00000313691:D191N	D	+	1	0	FTMT	121216128	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.967000	0.93402	2.185000	0.69588	0.609000	0.83330	GAT		0.507	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		A	121188229	G	A	121188229	3	1	61	1	0	0	0	0	1	0	0	0	6087	1058	37	1	573	1	FTMT	5	121188229	Missense_Mutation	SNP	G	TCGA-A4-7286-01A-11D-2136-08		121188229	59727031	9	4274											
TRIM52	84851	hgsc.bcm.edu	37	5	180687083	180687083	+	Silent	SNP	G	G	T			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr5:180687083G>T	ENST00000327767.4	-	1	1036	c.732C>A	c.(730-732)gcC>gcA	p.A244A	TRIM52-AS1_ENST00000507434.1_RNA|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000506340.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	244					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CCACACAGATGGCCTCTTTGT	0.537																																																0													135	129	131					5																	180687083		2203	4300	6503	SO:0001819	synonymous_variant	84851				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.732C>A	chr5.hg19:g.180687083G>T				Silent	SNP	ENST00000327767.4	hg19	CCDS4467.1																																																																																				0.537	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		T	180687083	G	T	180687083	2	4	61	1	0	0	0	0	0	0	0	1	16532	1335	47	4		4	TRIM52	5	180687083	Silent	SNP	G	TCGA-A4-7286-01A-11D-2136-08	59498854	180687083	228177	10	4275											
BCLAF1	9774	hgsc.bcm.edu	37	6	136596669	136596669	+	Splice_Site	SNP	C	C	T			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr6:136596669C>T	ENST00000531224.1	-	6	2105		c.e6+1		BCLAF1_ENST00000527536.1_Splice_Site|BCLAF1_ENST00000530767.1_Splice_Site|BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527759.1_Splice_Site	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTAAGCATACCTTTAACATG	0.358																																					Colon(142;1534 1789 5427 7063 28491)											0													146	131	136					6																	136596669		2203	4300	6503	SO:0001630	splice_region_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1852+1G>A	chr6.hg19:g.136596669C>T			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Splice_Site	SNP	ENST00000531224.1	hg19	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053045	0.55218	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9665	0.86287	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCLAF1	136638362	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.683000	0.74533	2.661000	0.90470	0.460000	0.39030	.		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	Intron	T	136596669	C	T	136596669	5	4	61	1	0	0	0	0	0	0	1	0	1383	521	18	2	941	2	BCLAF1	6	136596669	Splice_Site	SNP	C	TCGA-A4-7286-01A-11D-2136-08		136596669	34518398	11	4276											
MEOX2	4223	hgsc.bcm.edu	37	7	15725809	15725809	+	Silent	SNP	G	G	A			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr7:15725809G>A	ENST00000262041.5	-	1	628	c.219C>T	c.(217-219)caC>caT	p.H73H	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	73	Poly-His.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ggtggtggtggtggtggtggt	0.597																																					Esophageal Squamous(140;197 1769 16409 18257 29929)											0													22	23	23					7																	15725809		2203	4299	6502	SO:0001819	synonymous_variant	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.219C>T	chr7.hg19:g.15725809G>A			B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	hg19	CCDS34605.1																																																																																				0.597	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		A	15725809	G	A	15725809	2	1	61	1	0	0	0	0	0	0	0	1	9476	1252	44	2		2	MEOX2	7	15725809	Silent	SNP	G	TCGA-A4-7286-01A-11D-2136-08		15725809	143412854	12	4277											
FKBP9	11328	hgsc.bcm.edu	37	7	33014881	33014881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr7:33014881delC	ENST00000242209.4	+	3	624	c.455delC	c.(454-456)accfs	p.T152fs	FKBP9_ENST00000538336.1_Frame_Shift_Del_p.T205fs|FKBP9_ENST00000538443.1_Frame_Shift_Del_p.T14fs|AVL9_ENST00000404479.1_Intron	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	152					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CAGATTCACACCTATTTCAAG	0.468																																																0													114	103	107					7																	33014881		2203	4300	6503	SO:0001589	frameshift_variant	11328			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.455delC	chr7.hg19:g.33014881delC	ENSP00000242209:p.Thr152fs		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Del	DEL	ENST00000242209.4	hg19	CCDS5439.1																																																																																				0.468	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		-	33014881	C	-	33014881	7	5	61	1	0	1	0	1	0	0	0	0	5917	507	18	0	465	0	FKBP9	7	33014881	Frame_Shift_Del	DEL	C	TCGA-A4-7286-01A-11D-2136-08	17289072	33014881	126123782	13	4278											
DDX56	54606	hgsc.bcm.edu	37	7	44607797	44607797	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr7:44607797T>G	ENST00000258772.5	-	12	1515	c.1409A>C	c.(1408-1410)gAc>gCc	p.D470A	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.D430A	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	470					ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CAGCTGGAGGTCCCTAGGGTT	0.567																																																0													80	76	77					7																	44607797		2203	4300	6503	SO:0001583	missense	54606			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.1409A>C	chr7.hg19:g.44607797T>G	ENSP00000258772:p.Asp470Ala		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	hg19	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	27.7	4.856346	0.91355	.	.	ENSG00000136271	ENST00000258772;ENST00000431640;ENST00000448192	T;T	0.07908	3.19;3.15	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.26608	-1.0098	10	0.62326	D	0.03	-35.5767	13.7285	0.62771	0.0:0.0:0.0:1.0	.	430;470	C9JV95;Q9NY93	.;DDX56_HUMAN	A	470;430;75	ENSP00000258772:D470A;ENSP00000393488:D430A	ENSP00000258772:D470A	D	-	2	0	DDX56	44574322	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.924000	0.75823	2.137000	0.66172	0.533000	0.62120	GAC		0.567	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		G	44607797	T	G	44607797	3	3	61	1	0	0	0	0	1	0	0	0	4376	1667	58	5	246	5	DDX56	7	44607797	Missense_Mutation	SNP	T	TCGA-A4-7286-01A-11D-2136-08	11592916	44607797	114530866	14	4279											
RELN	5649	hgsc.bcm.edu	37	7	103234873	103234873	+	Silent	SNP	G	G	C			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr7:103234873G>C	ENST00000428762.1	-	26	3765	c.3606C>G	c.(3604-3606)ccC>ccG	p.P1202P	RELN_ENST00000424685.2_Silent_p.P1202P|RELN_ENST00000343529.5_Silent_p.P1202P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1202					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAGAACACGGGCTGCCACC	0.488																																					NSCLC(146;835 1944 15585 22231 52158)											0													182	181	181					7																	103234873		2203	4300	6503	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3606C>G	chr7.hg19:g.103234873G>C			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	hg19	CCDS47680.1																																																																																				0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		C	103234873	G	C	103234873	2	2	61	1	0	0	0	0	0	0	0	1	13226	1103	39	4		4	RELN	7	103234873	Silent	SNP	G	TCGA-A4-7286-01A-11D-2136-08	58627076	103234873	55903790	15	4280											
PRSS55	203074	hgsc.bcm.edu	37	8	10388999	10388999	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr8:10388999C>G	ENST00000328655.3	+	3	582	c.542C>G	c.(541-543)cCc>cGc	p.P181R	PRSS55_ENST00000522210.1_Missense_Mutation_p.P181R|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	181	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCCACGCAGCCCGGCCCTGCC	0.587																																																0													70	64	66					8																	10388999		2203	4300	6503	SO:0001583	missense	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.542C>G	chr8.hg19:g.10388999C>G	ENSP00000333003:p.Pro181Arg		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	hg19	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	5.554	0.287080	0.10513	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88509	-2.39;-2.39	4.79	-3.88	0.04205	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.401620	0.05168	N	0.499078	T	0.71256	0.3318	N	0.11427	0.14	0.09310	N	1	B	0.31256	0.316	B	0.28553	0.091	T	0.62210	-0.6902	10	0.16896	T	0.51	.	1.6522	0.02774	0.3222:0.3223:0.2083:0.1472	.	181	Q6UWB4	PRS55_HUMAN	R	181	ENSP00000333003:P181R;ENSP00000430459:P181R	ENSP00000333003:P181R	P	+	2	0	PRSS55	10426409	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.518000	0.06267	-0.898000	0.03906	-2.547000	0.00178	CCC		0.587	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		G	10388999	C	G	10388999	3	3	61	1	0	0	0	0	1	0	0	0	12639	623	22	4	552	4	PRSS55	8	10388999	Missense_Mutation	SNP	C	TCGA-A4-7286-01A-11D-2136-08		10388999	135975023	16	4281											
COL22A1	169044	hgsc.bcm.edu	37	8	139790649	139790649	+	Splice_Site	SNP	C	C	T			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr8:139790649C>T	ENST00000303045.6	-	15	2151	c.1705G>A	c.(1705-1707)Ggg>Agg	p.G569R	COL22A1_ENST00000435777.1_Splice_Site_p.G569R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	569	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTTGGGGCCCCTGCAGAAGA	0.572										HNSCC(7;0.00092)																																						0													41	46	44					8																	139790649		2203	4300	6503	SO:0001630	splice_region_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1705-1G>A	chr8.hg19:g.139790649C>T			B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	hg19	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	5.522	0.281168	0.10458	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000522546	D;D;D	0.99488	-5.77;-3.26;-6.0	4.97	3.15	0.36227	.	0.000000	0.48286	U	0.000185	D	0.99127	0.9699	H	0.96633	3.855	0.44966	D	0.997988	B	0.20052	0.041	B	0.26202	0.067	D	0.99679	1.0998	10	0.72032	D	0.01	.	6.7777	0.23628	0.0:0.7264:0.1791:0.0945	.	569	Q8NFW1	COMA1_HUMAN	R	569;569;19	ENSP00000303153:G569R;ENSP00000387655:G569R;ENSP00000428244:G19R	ENSP00000303153:G569R	G	-	1	0	COL22A1	139859831	1.000000	0.71417	0.962000	0.40283	0.102000	0.19082	3.260000	0.51523	0.791000	0.33826	-0.176000	0.13171	GGG		0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Missense_Mutation	T	139790649	C	T	139790649	5	4	61	1	0	0	0	0	0	0	1	0	3683	637	22	2	3379	2	COL22A1	8	139790649	Splice_Site	SNP	C	TCGA-A4-7286-01A-11D-2136-08	129401650	139790649	6573373	17	4282											
ANKS6	203286	hgsc.bcm.edu	37	9	101533259	101533259	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr9:101533259A>T	ENST00000353234.4	-	10	1938	c.1891T>A	c.(1891-1893)Ttc>Atc	p.F631I	ANKS6_ENST00000375019.2_Missense_Mutation_p.F330I|ANKS6_ENST00000375018.1_Missense_Mutation_p.F631I|ANKS6_ENST00000540940.1_Missense_Mutation_p.F436I			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	631	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GAGTGGTTGAAGTTTCCAGAA	0.582																																																0													51	57	55					9																	101533259		1872	4107	5979	SO:0001583	missense	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1891T>A	chr9.hg19:g.101533259A>T	ENSP00000297837:p.Phe631Ile		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	hg19	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.4|20.4	3.990515|3.990515	0.74589|0.74589	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.70045|.	1.72;-0.45;-0.45;1.97|.	5.76|5.76	4.61|4.61	0.57282|0.57282	.|.	0.212682|.	0.51477|.	D|.	0.000093|.	T|T	0.62380|0.62380	0.2423|0.2423	L|L	0.56769|0.56769	1.78|1.78	0.43617|0.43617	D|D	0.995998|0.995998	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.83275|.	0.996;0.991|.	T|T	0.59215|0.59215	-0.7496|-0.7496	10|5	0.36615|.	T|.	0.2|.	-12.8842|-12.8842	11.2813|11.2813	0.49197|0.49197	0.8468:0.1532:0.0:0.0|0.8468:0.1532:0.0:0.0	.|.	631;631|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	I|H	330;631;631;436|99	ENSP00000364159:F330I;ENSP00000364158:F631I;ENSP00000297837:F631I;ENSP00000442189:F436I|.	ENSP00000297837:F631I|.	F|L	-|-	1|2	0|0	ANKS6|ANKS6	100573080|100573080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.549000|0.549000	0.35272|0.35272	5.521000|5.521000	0.67086|0.67086	0.994000|0.994000	0.38892|0.38892	-0.648000|-0.648000	0.03929|0.03929	TTC|CTT		0.582	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		T	101533259	A	T	101533259	3	4	61	1	0	0	0	0	1	0	0	0	692	72	3	5	748	5	ANKS6	9	101533259	Missense_Mutation	SNP	A	TCGA-A4-7286-01A-11D-2136-08		101533259	39680172	18	4283											
ALG2	85365	hgsc.bcm.edu	37	9	101980774	101980774	+	Silent	SNP	G	G	A			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr9:101980774G>A	ENST00000476832.1	-	2	754	c.693C>T	c.(691-693)atC>atT	p.I231I	ALG2_ENST00000319033.6_Silent_p.I138I	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				CGTATCTGTTGATGGAGAGCA	0.463																																																0													124	124	124					9																	101980774		2203	4300	6503	SO:0001819	synonymous_variant	85365			AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"Glycosyltransferase group 1 domain containing"	23159	protein-coding gene	gene with protein product		607905	"asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.693C>T	chr9.hg19:g.101980774G>A			B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Silent	SNP	ENST00000476832.1	hg19	CCDS6739.1																																																																																				0.463	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		A	101980774	G	A	101980774	2	1	61	1	0	0	0	0	0	0	0	1	519	1280	45	2		2	ALG2	9	101980774	Silent	SNP	G	TCGA-A4-7286-01A-11D-2136-08	447515	101980774	39232657	19	4284											
CCKBR	887	hgsc.bcm.edu	37	11	6281226	6281226	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr11:6281226G>C	ENST00000334619.2	+	1	261	c.68G>C	c.(67-69)cGc>cCc	p.R23P	CCKBR_ENST00000525462.1_Missense_Mutation_p.R23P|CCKBR_ENST00000531712.1_Missense_Mutation_p.R23P|CCKBR_ENST00000532715.1_Missense_Mutation_p.R23P|CCKBR_ENST00000525014.1_Missense_Mutation_p.R23P	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	23					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCCCTGTGCCGCCCGGGGGCG	0.716																																																0													9	13	12					11																	6281226		2165	4246	6411	SO:0001583	missense	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.68G>C	chr11.hg19:g.6281226G>C	ENSP00000335544:p.Arg23Pro		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	hg19	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	g	8.885	0.952549	0.18431	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525014;ENST00000525462;ENST00000531712	T;T;T;T;T	0.77098	0.34;-1.07;-0.06;0.35;0.15	2.75	2.75	0.32379	.	0.513554	0.16331	U	0.219138	T	0.78027	0.4219	L	0.47716	1.5	0.31075	N	0.712597	D;B	0.61080	0.989;0.337	P;B	0.56865	0.808;0.11	T	0.74156	-0.3756	10	0.31617	T	0.26	.	9.2026	0.37268	0.0:0.0:1.0:0.0	.	23;23	P32239-2;P32239	.;GASR_HUMAN	P	23	ENSP00000335544:R23P;ENSP00000432079:R23P;ENSP00000437001:R23P;ENSP00000435534:R23P;ENSP00000435675:R23P	ENSP00000335544:R23P	R	+	2	0	CCKBR	6237802	1.000000	0.71417	0.996000	0.52242	0.042000	0.13812	1.757000	0.38400	1.859000	0.53934	0.580000	0.79431	CGC		0.716	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		C	6281226	G	C	6281226	3	2	61	1	0	0	0	0	1	0	0	0	2883	1087	38	4	70	4	CCKBR	11	6281226	Missense_Mutation	SNP	G	TCGA-A4-7286-01A-11D-2136-08		6281226	128725290	20	4285											
SLC17A6	57084	hgsc.bcm.edu	37	11	22363111	22363112	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr11:22363111_22363112delGA	ENST00000263160.3	+	2	561_562	c.124_125delGA	c.(124-126)gagfs	p.E42fs		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	42					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGAGACAATCGAGCTGACGGAG	0.649																																																0																																										SO:0001589	frameshift_variant	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.124_125delGA	chr11.hg19:g.22363111_22363112delGA	ENSP00000263160:p.Glu42fs		A6NKS2	Frame_Shift_Del	DEL	ENST00000263160.3	hg19	CCDS7856.1																																																																																				0.649	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		-	22363112	GA	-	22363111	7	5	61	1	0	1	0	1	0	0	0	0	14427	1059	37	0	130	0	SLC17A6	11	22363111	Frame_Shift_Del	DEL	GA	TCGA-A4-7286-01A-11D-2136-08	16081885	22363111	112643405	21	4286											
RIMKLB	57494	hgsc.bcm.edu	37	12	8906507	8906507	+	Missense_Mutation	SNP	G	G	T	rs369058701		TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr12:8906507G>T	ENST00000538135.1	+	5	1340	c.515G>T	c.(514-516)cGa>cTa	p.R172L	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000357529.3_Missense_Mutation_p.R172L|RIMKLB_ENST00000535829.1_Missense_Mutation_p.R172L			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	172	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTCTTGGCTCGAGATAAGCAC	0.388																																																0													94	82	86					12																	8906507		1884	4110	5994	SO:0001583	missense	57494			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.515G>T	chr12.hg19:g.8906507G>T	ENSP00000440943:p.Arg172Leu		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	hg19	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750151	0.89753	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	4.83	4.83	0.62350	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.000000	0.64402	U	0.000004	T	0.54062	0.1835	L	0.31065	0.9	0.80722	D	1	B;B	0.33448	0.412;0.339	B;B	0.40901	0.232;0.343	T	0.60541	-0.7243	9	0.87932	D	0	.	16.8371	0.85959	0.0:0.0:1.0:0.0	.	172;172	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	L	172	.	ENSP00000350136:R172L	R	+	2	0	RIMKLB	8797774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.835000	0.92100	2.379000	0.81126	0.591000	0.81541	CGA		0.388	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		T	8906507	G	T	8906507	3	4	61	1	0	0	0	0	1	0	0	0	13372	1058	37	4	529	4	RIMKLB	12	8906507	Missense_Mutation	SNP	G	TCGA-A4-7286-01A-11D-2136-08		8906507	124945388	22	4287											
EPS8	2059	hgsc.bcm.edu	37	12	15784493	15784493	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr12:15784493C>A	ENST00000281172.5	-	18	2363	c.1927G>T	c.(1927-1929)Gca>Tca	p.A643S	EPS8_ENST00000540613.1_Missense_Mutation_p.A383S|EPS8_ENST00000543523.1_Missense_Mutation_p.A643S|EPS8_ENST00000543612.1_Missense_Mutation_p.A643S|EPS8_ENST00000542903.1_Missense_Mutation_p.A383S	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	643	Pro-rich.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GGAACAGGTGCTGGAGTGGAA	0.547																																																0													152	128	136					12																	15784493		2203	4300	6503	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1927G>T	chr12.hg19:g.15784493C>A	ENSP00000281172:p.Ala643Ser		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	hg19	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064340	0.55432	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.08546	3.21;3.21;3.21;3.08;3.08	5.75	5.75	0.90469	.	0.131007	0.51477	D	0.000098	T	0.19846	0.0477	L	0.38531	1.155	0.44104	D	0.996874	D	0.63880	0.993	D	0.72625	0.978	T	0.02654	-1.1128	10	0.20519	T	0.43	-4.529	18.1274	0.89590	0.0:1.0:0.0:0.0	.	643	Q12929	EPS8_HUMAN	S	643;643;643;383;383;643	ENSP00000441867:A643S;ENSP00000281172:A643S;ENSP00000442388:A643S;ENSP00000441888:A383S;ENSP00000437806:A383S	ENSP00000281172:A643S	A	-	1	0	EPS8	15675760	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.997000	0.49457	2.714000	0.92807	0.650000	0.86243	GCA		0.547	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			A	15784493	C	A	15784493	3	1	61	1	0	0	0	0	1	0	0	0	5196	797	28	4	557	4	EPS8	12	15784493	Missense_Mutation	SNP	C	TCGA-A4-7286-01A-11D-2136-08	6877986	15784493	118067402	23	4288											
SFRS2IP	9169	hgsc.bcm.edu	37	12	46320210	46320210	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr12:46320210G>T	ENST00000369367.3	-	11	3507	c.3274C>A	c.(3274-3276)Cag>Aag	p.Q1092K	SCAF11_ENST00000549162.1_Missense_Mutation_p.Q900K|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Missense_Mutation_p.Q777K|SCAF11_ENST00000419565.2_Missense_Mutation_p.Q1092K	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1092					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTTTCATTCTGATCTTTATAG	0.433																																																0													68	73	71					12																	46320210		2203	4300	6503	SO:0001583	missense	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3274C>A	chr12.hg19:g.46320210G>T	ENSP00000358374:p.Gln1092Lys		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	hg19	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546855	0.65198	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.85	5.85	0.93711	.	0.089021	0.49916	D	0.000137	T	0.64294	0.2585	M	0.62723	1.935	0.28696	N	0.904354	D;D	0.71674	0.998;0.988	D;P	0.65684	0.937;0.788	T	0.58578	-0.7612	10	0.12766	T	0.61	-12.0691	20.1563	0.98114	0.0:0.0:1.0:0.0	.	900;1092	F8VXG7;Q99590	.;SCAFB_HUMAN	K	777;1092;900;1092	ENSP00000449812:Q777K;ENSP00000358374:Q1092K;ENSP00000448864:Q900K;ENSP00000413036:Q1092K	ENSP00000358374:Q1092K	Q	-	1	0	SCAF11	44606477	1.000000	0.71417	0.980000	0.43619	0.815000	0.46073	5.535000	0.67173	2.775000	0.95449	0.655000	0.94253	CAG		0.433	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		T	46320210	G	T	46320210	3	4	61	1	0	0	0	0	1	0	0	0	14183	1299	45	4	1137	4	SFRS2IP	12	46320210	Missense_Mutation	SNP	G	TCGA-A4-7286-01A-11D-2136-08	30535717	46320210	87531685	24	4289											
INHBC	3626	hgsc.bcm.edu	37	12	57828750	57828750	+	Silent	SNP	A	A	C			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr12:57828750A>C	ENST00000309668.2	+	1	208	c.81A>C	c.(79-81)ccA>ccC	p.P27P	RP11-756H6.1_ENST00000547552.1_lincRNA	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	27					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GTCAGTGTCCAGCATGTGGGG	0.607																																																0													41	41	41					12																	57828750		2203	4300	6503	SO:0001819	synonymous_variant	3626				CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.81A>C	chr12.hg19:g.57828750A>C			A1L3Y2	Silent	SNP	ENST00000309668.2	hg19	CCDS8938.1																																																																																				0.607	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		C	57828750	A	C	57828750	2	2	61	1	0	0	0	0	0	0	0	1	7745	175	7	5		5	INHBC	12	57828750	Silent	SNP	A	TCGA-A4-7286-01A-11D-2136-08	11508540	57828750	76023145	25	4290											
ALDH1L2	160428	hgsc.bcm.edu	37	12	105428135	105428135	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr12:105428135A>C	ENST00000258494.9	-	19	2327	c.2187T>G	c.(2185-2187)atT>atG	p.I729M	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	729	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCCCAGCAGCAATACAGTTCT	0.418																																																0													107	90	96					12																	105428135		2203	4300	6503	SO:0001583	missense	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2187T>G	chr12.hg19:g.105428135A>C	ENSP00000258494:p.Ile729Met		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	hg19	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699315	0.68501	.	.	ENSG00000136010	ENST00000258494	T	0.76839	-1.05	5.46	-0.924	0.10462	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.76442	0.3988	N	0.20574	0.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75227	-0.3392	10	0.87932	D	0	.	11.4475	0.50131	0.6024:0.0:0.3976:0.0	.	729	Q3SY69	AL1L2_HUMAN	M	729	ENSP00000258494:I729M	ENSP00000258494:I729M	I	-	3	3	ALDH1L2	103952265	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	1.140000	0.31516	-0.085000	0.12573	-0.388000	0.06559	ATT		0.418	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		C	105428135	A	C	105428135	3	2	61	1	0	0	0	0	1	0	0	0	495	126	5	5	604	5	ALDH1L2	12	105428135	Missense_Mutation	SNP	A	TCGA-A4-7286-01A-11D-2136-08	47599385	105428135	28423760	26	4291											
MORN3	283385	hgsc.bcm.edu	37	12	122107353	122107353	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr12:122107353delG	ENST00000355329.3	-	1	207	c.37delC	c.(37-39)ctgfs	p.L13fs		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	13						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCTTCCACAGGGACTCCGAC	0.602																																																0													126	115	119					12																	122107353		2203	4300	6503	SO:0001589	frameshift_variant	283385			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.37delC	chr12.hg19:g.122107353delG	ENSP00000347486:p.Leu13fs		Q86YQ9	Frame_Shift_Del	DEL	ENST00000355329.3	hg19	CCDS31917.1																																																																																				0.602	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		-	122107353	G	-	122107353	7	5	61	1	0	1	0	1	0	0	0	0	9711	991	35	0	705	0	MORN3	12	122107353	Frame_Shift_Del	DEL	G	TCGA-A4-7286-01A-11D-2136-08	16679218	122107353	11744542	27	4292											
RNF6	6049	hgsc.bcm.edu	37	13	26788332	26788332	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr13:26788332T>A	ENST00000381588.4	-	5	2439	c.1687A>T	c.(1687-1689)Agt>Tgt	p.S563C	RNF6_ENST00000381570.3_Missense_Mutation_p.S563C|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Missense_Mutation_p.S207C|RNF6_ENST00000346166.3_Missense_Mutation_p.S563C	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	563					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTACTGTCACTGTTTCGAGTA	0.483																																																0													152	148	149					13																	26788332		2203	4300	6503	SO:0001583	missense	6049			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1687A>T	chr13.hg19:g.26788332T>A	ENSP00000371000:p.Ser563Cys		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	hg19	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	T	5.021	0.189542	0.09547	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.15834	2.97;2.97;2.97;2.39	4.87	0.818	0.18778	.	0.588235	0.19777	N	0.106316	T	0.18215	0.0437	L	0.43152	1.355	0.09310	N	1	D;P	0.56287	0.975;0.948	P;B	0.49047	0.599;0.41	T	0.08371	-1.0725	10	0.59425	D	0.04	-0.6579	8.2879	0.31939	0.0:0.069:0.3791:0.552	.	207;563	B4DDP0;Q9Y252	.;RNF6_HUMAN	C	563;563;563;207	ENSP00000342121:S563C;ENSP00000371000:S563C;ENSP00000370982:S563C;ENSP00000382665:S207C	ENSP00000342121:S563C	S	-	1	0	RNF6	25686332	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.774000	0.26675	0.069000	0.16605	0.460000	0.39030	AGT		0.483	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		A	26788332	T	A	26788332	3	1	61	1	0	0	0	0	1	0	0	0	13504	1580	55	5	374	5	RNF6	13	26788332	Missense_Mutation	SNP	T	TCGA-A4-7286-01A-11D-2136-08		26788332	88381546	28	4293											
TEP1	7011	hgsc.bcm.edu	37	14	20857434	20857434	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr14:20857434C>T	ENST00000262715.5	-	17	2528	c.2488G>A	c.(2488-2490)Gat>Aat	p.D830N	TEP1_ENST00000556935.1_Missense_Mutation_p.D722N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	830					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGTGTCACATCATTGGGATTC	0.418																																																0													170	144	153					14																	20857434		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2488G>A	chr14.hg19:g.20857434C>T	ENSP00000262715:p.Asp830Asn		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	hg19	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675408	0.47781	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.51817	0.7;0.69	5.14	5.14	0.70334	.	0.398706	0.30219	N	0.010131	T	0.55481	0.1923	L	0.41824	1.3	0.80722	D	1	D;B;D	0.57257	0.979;0.005;0.964	P;B;P	0.59703	0.862;0.01;0.732	T	0.55483	-0.8134	10	0.51188	T	0.08	-3.8703	14.0724	0.64868	0.0:1.0:0.0:0.0	.	722;180;830	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	N	830;830;722	ENSP00000262715:D830N;ENSP00000452574:D722N	ENSP00000262715:D830N	D	-	1	0	TEP1	19927274	0.981000	0.34729	0.998000	0.56505	0.734000	0.41952	0.854000	0.27791	2.392000	0.81423	0.561000	0.74099	GAT		0.418	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20857434	C	T	20857434	3	4	61	1	0	0	0	0	1	0	0	0	15764	826	29	2	5551	2	TEP1	14	20857434	Missense_Mutation	SNP	C	TCGA-A4-7286-01A-11D-2136-08		20857434	86492106	29	4294											
ATP10A	57194	hgsc.bcm.edu	37	15	25959389	25959389	+	Splice_Site	SNP	C	C	G			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr15:25959389C>G	ENST00000356865.6	-	10	1888		c.e10-1			NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A						ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCACCCTCACCTGCAAGAGAA	0.582																																																0													26	30	29					15																	25959389		2188	4268	6456	SO:0001630	splice_region_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1777-1G>C	chr15.hg19:g.25959389C>G			Q4G0S9|Q969I4	Splice_Site	SNP	ENST00000356865.6	hg19	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018554	0.75275	.	.	ENSG00000206190	ENST00000356865	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6469	0.88151	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP10A	23510482	1.000000	0.71417	0.996000	0.52242	0.877000	0.50540	6.761000	0.74945	2.412000	0.81896	0.655000	0.94253	.		0.582	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	Intron	G	25959389	C	G	25959389	5	3	61	1	0	0	0	0	0	0	1	0	1116	695	24	4	2771	4	ATP10A	15	25959389	Splice_Site	SNP	C	TCGA-A4-7286-01A-11D-2136-08		25959389	76572003	30	4295											
ALDH3A2	224	hgsc.bcm.edu	37	17	19575183	19575183	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr17:19575183T>A	ENST00000176643.6	+	9	1803	c.1357T>A	c.(1357-1359)Ttt>Att	p.F453I	ALDH3A2_ENST00000579855.1_Missense_Mutation_p.F453I|ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.F453I|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.F453I|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.F453I			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	453					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TTGGGGAAAATTTTTTCTCTT	0.423																																																0													129	143	138					17																	19575183		2203	4300	6503	SO:0001583	missense	224			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1357T>A	chr17.hg19:g.19575183T>A	ENSP00000176643:p.Phe453Ile		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	hg19	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144131	0.37825	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	T;T;T	0.80909	-1.42;-1.42;-1.43	6.07	3.72	0.42706	.	0.133335	0.64402	D	0.000001	T	0.66703	0.2816	N	0.24115	0.695	0.22656	N	0.998887	B;P	0.37061	0.444;0.58	B;B	0.39068	0.133;0.289	T	0.55237	-0.8172	10	0.22706	T	0.39	-18.8603	8.3131	0.32084	0.0:0.0691:0.1325:0.7984	.	453;453	P51648;P51648-2	AL3A2_HUMAN;.	I	453	ENSP00000176643:F453I;ENSP00000378942:F453I;ENSP00000345774:F453I	ENSP00000176643:F453I	F	+	1	0	ALDH3A2	19515775	0.922000	0.31269	0.032000	0.17829	0.671000	0.39405	1.408000	0.34668	1.093000	0.41377	0.533000	0.62120	TTT		0.423	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			A	19575183	T	A	19575183	3	1	61	1	0	0	0	0	1	0	0	0	498	1493	52	5	1391	5	ALDH3A2	17	19575183	Missense_Mutation	SNP	T	TCGA-A4-7286-01A-11D-2136-08		19575183	61620027	31	4296											
PROCA1	83871	hgsc.bcm.edu	37	17	27038593	27038593	+	IGR	SNP	C	C	T			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr17:27038593C>T	ENST00000395245.3	-	0	1736				PROCA1_ENST00000439862.3_5'Flank|PROCA1_ENST00000581289.1_Missense_Mutation_p.C29Y|PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000301039.2_Missense_Mutation_p.C29Y	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family						antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CTTACCGCGGCATCTGCTCTC	0.682																																					Pancreas(175;216 2049 29940 32498 41589)											0													78	68	72					17																	27038593		2203	4300	6503	SO:0001628	intergenic_variant	147011			AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"RAB, member RAS oncogene"	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680		chr17.hg19:g.27038593C>T			B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	hg19	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	C	8.048	0.765458	0.15914	.	.	ENSG00000167525	ENST00000301039	T	0.29917	1.55	2.0	2.0	0.26442	.	0.967617	0.08473	U	0.940674	T	0.16642	0.0400	N	0.08118	0	0.27121	N	0.962131	B	0.11235	0.004	B	0.14023	0.01	T	0.16748	-1.0392	10	0.56958	D	0.05	.	7.523	0.27639	0.0:1.0:0.0:0.0	.	29	Q8NCQ7-2	.	Y	29	ENSP00000301039:C29Y	ENSP00000301039:C29Y	C	-	2	0	PROCA1	24062720	0.026000	0.19158	0.014000	0.15608	0.004000	0.04260	0.601000	0.24119	1.414000	0.47017	0.514000	0.50259	TGC		0.682	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		T	27038593	C	T	27038593	1	4	61	0	1	0	0	0	0	0	0	0	12551	710	25	2		2	PROCA1	17	27038593	IGR	SNP	C	TCGA-A4-7286-01A-11D-2136-08	7463410	27038593	54156617	32	4297											
ENGASE	64772	hgsc.bcm.edu	37	17	77079593	77079593	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr17:77079593C>G	ENST00000579016.1	+	9	1172	c.1172C>G	c.(1171-1173)cCc>cGc	p.P391R	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	391						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CGTTATCTGCCCACACATAGC	0.617																																																0													111	118	116					17																	77079593		2136	4241	6377	SO:0001583	missense	64772			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1172C>G	chr17.hg19:g.77079593C>G	ENSP00000462333:p.Pro391Arg		Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	hg19	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987187	0.35036	.	.	ENSG00000167280	ENST00000545583	.	.	.	5.47	5.47	0.80525	Glycoside hydrolase, family 85 (1);	0.309415	0.36778	N	0.002406	T	0.61173	0.2326	M	0.69823	2.125	0.80722	D	1	P	0.45240	0.854	P	0.46144	0.505	T	0.59685	-0.7408	9	0.28530	T	0.3	-4.1388	12.6473	0.56742	0.0:0.9243:0.0:0.0757	.	391	Q8NFI3	ENASE_HUMAN	R	391	.	ENSP00000438577:P391R	P	+	2	0	ENGASE	74591188	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	2.094000	0.41719	2.563000	0.86464	0.561000	0.74099	CCC		0.617	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		G	77079593	C	G	77079593	3	3	61	1	0	0	0	0	1	0	0	0	5120	623	22	4	1206	4	ENGASE	17	77079593	Missense_Mutation	SNP	C	TCGA-A4-7286-01A-11D-2136-08	50041000	77079593	4115617	33	4298											
AATK	9625	hgsc.bcm.edu	37	17	79094952	79094952	+	Silent	SNP	A	A	T			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr17:79094952A>T	ENST00000326724.4	-	11	2808	c.2784T>A	c.(2782-2784)tcT>tcA	p.S928S	AATK_ENST00000417379.1_Silent_p.S825S	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	928					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTGCCCTCCAGAGGGGCCAG	0.647																																																0													10	12	11					17																	79094952		1972	4143	6115	SO:0001819	synonymous_variant	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2784T>A	chr17.hg19:g.79094952A>T			O75136|Q6ZN31|Q86X28	Silent	SNP	ENST00000326724.4	hg19	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	A	0.866	-0.733743	0.03111	.	.	ENSG00000181409	ENST00000417379	.	.	.	3.95	-2.58	0.06228	.	.	.	.	.	T	0.43188	0.1236	.	.	.	0.37603	D	0.920626	.	.	.	.	.	.	T	0.43048	-0.9415	4	.	.	.	.	5.1955	0.15233	0.3603:0.1879:0.4518:0.0	.	.	.	.	Q	881	.	.	L	-	2	0	AATK	76709547	0.166000	0.22962	0.006000	0.13384	0.142000	0.21351	0.558000	0.23469	-0.121000	0.11787	-0.464000	0.05259	CTG		0.647	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		T	79094952	A	T	79094952	2	4	61	1	0	0	0	0	0	0	0	1	26	175	7	5		5	AATK	17	79094952	Silent	SNP	A	TCGA-A4-7286-01A-11D-2136-08	2015359	79094952	2100258	34	4299											
CSRP2BP	57325	hgsc.bcm.edu	37	20	18142850	18142850	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr20:18142850C>G	ENST00000435364.3	+	5	1410	c.1069C>G	c.(1069-1071)Cca>Gca	p.P357A	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.P229A|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.P356A	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	357					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGATCTGATTCCAGATGTGAT	0.458																																																0													216	229	224					20																	18142850		2203	4300	6503	SO:0001583	missense	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1069C>G	chr20.hg19:g.18142850C>G	ENSP00000392318:p.Pro357Ala		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	hg19	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555785	0.86231	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.43294	0.95;0.95;0.95;0.99	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.57004	-0.7885	10	0.72032	D	0.01	-20.8382	20.5666	0.99351	0.0:1.0:0.0:0.0	.	229;357	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	A	357;356;357;229	ENSP00000278816:P357A;ENSP00000366909:P356A;ENSP00000392318:P357A;ENSP00000425909:P229A	ENSP00000278816:P357A	P	+	1	0	CSRP2BP	18090850	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.364000	0.79526	2.854000	0.98071	0.655000	0.94253	CCA		0.458	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		G	18142850	C	G	18142850	3	3	61	1	0	0	0	0	1	0	0	0	3970	855	30	4	1087	4	CSRP2BP	20	18142850	Missense_Mutation	SNP	C	TCGA-A4-7286-01A-11D-2136-08		18142850	44882670	35	4300											
HM13	81502	hgsc.bcm.edu	37	20	30137040	30137040	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr20:30137040G>A	ENST00000340852.5	+	6	695	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	HM13_ENST00000335574.5_Missense_Mutation_p.A191T|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000398174.3_Missense_Mutation_p.A191T|HM13_ENST00000376127.3_Intron	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	191					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TTTTGGCCTGGCCTTCTCCCT	0.567																																																0													216	199	205					20																	30137040		2203	4300	6503	SO:0001583	missense	81502			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"signal peptide peptidase beta", "presenilin-like protein 3", "intramembrane protease", "signal peptide peptidase like 1"	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.571G>A	chr20.hg19:g.30137040G>A	ENSP00000343032:p.Ala191Thr		B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	hg19	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315948	0.81469	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174	T;T;T	0.21361	2.01;2.01;2.01	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	M	0.73962	2.25	0.80722	D	1	P;P;B	0.43519	0.809;0.802;0.338	P;P;B	0.54210	0.745;0.607;0.281	T	0.21314	-1.0249	10	0.48119	T	0.1	-2.7651	17.5166	0.87776	0.0:0.0:1.0:0.0	.	191;191;191	Q8TCT9;Q8TCT9-4;Q8TCT9-2	HM13_HUMAN;.;.	T	191	ENSP00000335294:A191T;ENSP00000343032:A191T;ENSP00000381237:A191T	ENSP00000335294:A191T	A	+	1	0	HM13	29600701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.992000	0.93519	2.604000	0.88044	0.650000	0.86243	GCC		0.567	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		A	30137040	G	A	30137040	3	1	61	1	0	0	0	0	1	0	0	0	7219	1203	42	2	660	2	HM13	20	30137040	Missense_Mutation	SNP	G	TCGA-A4-7286-01A-11D-2136-08	11994190	30137040	32888480	36	4301											
CHD6	84181	hgsc.bcm.edu	37	20	40080522	40080522	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr20:40080522C>G	ENST00000373233.3	-	22	3644	c.3467G>C	c.(3466-3468)tGg>tCg	p.W1156S	CHD6_ENST00000309279.7_Missense_Mutation_p.W639S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1156					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GATCAGTTCCCAAATGAAACT	0.522																																																0													259	206	224					20																	40080522		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3467G>C	chr20.hg19:g.40080522C>G	ENSP00000362330:p.Trp1156Ser		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	hg19	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.899700|4.899700	0.91962|0.91962	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000440697|ENST00000373233;ENST00000309279	.|D;D	.|0.98060	.|-4.69;-4.69	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.56097	.|D	.|0.000033	D|D	0.98801|0.98801	0.9596|0.9596	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.72982	.|0.979	D|D	0.99651|0.99651	1.0991|1.0991	5|10	.|0.87932	.|D	.|0	-10.1751|-10.1751	20.0435|20.0435	0.97601|0.97601	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1156	.|Q8TD26	.|CHD6_HUMAN	R|S	342|1156;639	.|ENSP00000362330:W1156S;ENSP00000308684:W639S	.|ENSP00000308684:W639S	G|W	-|-	1|2	0|0	CHD6|CHD6	39513936|39513936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.776000|7.776000	0.85560|0.85560	2.731000|2.731000	0.93534|0.93534	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.522	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			G	40080522	C	G	40080522	3	3	61	1	0	0	0	0	1	0	0	0	3331	595	21	4	4744	4	CHD6	20	40080522	Missense_Mutation	SNP	C	TCGA-A4-7286-01A-11D-2136-08	9943482	40080522	22944998	37	4302											
PARD6B	84612	hgsc.bcm.edu	37	20	49367023	49367023	+	Nonstop_Mutation	SNP	T	T	C			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr20:49367023T>C	ENST00000371610.2	+	3	1360	c.1117T>C	c.(1117-1119)Tga>Cga	p.*373R	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	0					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CATAACATTATGAAACCGTGG	0.398																																																0													35	34	34					20																	49367023		2202	4298	6500	SO:0001578	stop_lost	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.1117T>C	chr20.hg19:g.49367023T>C	ENSP00000360672:p.*373Argext*13		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	hg19	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.695570	0.30052	.	.	ENSG00000124171	ENST00000371610	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5383	0.76021	0.0:0.0:0.0:1.0	.	.	.	.	R	373	.	.	X	+	1	0	PARD6B	48800430	1.000000	0.71417	0.503000	0.27626	0.446000	0.32137	6.377000	0.73145	2.073000	0.62155	0.482000	0.46254	TGA		0.398	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		C	49367023	T	C	49367023	4	2	61	1	0	0	0	0	0	0	0	0	11448	1477	51	3	1127	3	PARD6B	20	49367023	Nonstop_Mutation	SNP	T	TCGA-A4-7286-01A-11D-2136-08	9286501	49367023	13658497	38	4303											
ZNRF3	84133	hgsc.bcm.edu	37	22	29445639	29445639	+	Silent	SNP	C	C	A			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chr22:29445639C>A	ENST00000544604.2	+	8	1645	c.1470C>A	c.(1468-1470)ctC>ctA	p.L490L	ZNRF3_ENST00000332811.4_Silent_p.L390L|ZNRF3_ENST00000406323.3_Silent_p.L390L|ZNRF3_ENST00000402174.1_Silent_p.L390L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	490					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L390L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CACCTAGCCTCGCACCCCGGG	0.682																																																1	Substitution - coding silent(1)	lung(1)											23	27	25					22																	29445639		2081	4180	6261	SO:0001819	synonymous_variant	84133			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1470C>A	chr22.hg19:g.29445639C>A			B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	hg19	CCDS56225.1																																																																																				0.682	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		A	29445639	C	A	29445639	2	1	61	1	0	0	0	0	0	0	0	1	18218	871	31	4		4	ZNRF3	22	29445639	Silent	SNP	C	TCGA-A4-7286-01A-11D-2136-08		29445639	21858927	39	4304											
BHLHB9	80823	hgsc.bcm.edu	37	X	102004858	102004858	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7286-01A-11D-2136-08	TCGA-A4-7286-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4ab0f9d3-99a7-4bcc-9b8e-643a30a9979c	08ec176f-4bd6-4128-97b3-ea6aa610eeb9	g.chrX:102004858G>C	ENST00000372735.1	+	4	1520	c.935G>C	c.(934-936)tGt>tCt	p.C312S	BHLHB9_ENST00000448867.1_Missense_Mutation_p.C312S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.C312S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.C312S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.C312S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	312					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCATTTGCTTGTCCTTGCAAA	0.398																																																0													93	85	88					X																	102004858		2203	4300	6503	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.935G>C	chrX.hg19:g.102004858G>C	ENSP00000361820:p.Cys312Ser		Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	hg19	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084883	0.55861	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.68	4.68	0.58851	Armadillo-type fold (1);	0.000000	0.51477	D	0.000090	T	0.47857	0.1468	L	0.52905	1.665	0.33452	D	0.583863	D	0.89917	1.0	D	0.91635	0.999	T	0.57118	-0.7866	9	.	.	.	-17.5444	11.7841	0.52032	0.0:0.0:1.0:0.0	.	312	Q6PI77	BHLH9_HUMAN	S	312	ENSP00000403226:C312S;ENSP00000354675:C312S;ENSP00000405893:C312S;ENSP00000391722:C312S;ENSP00000361820:C312S	.	C	+	2	0	BHLHB9	101891514	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.642000	0.54367	2.557000	0.86248	0.594000	0.82650	TGT		0.398	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		C	102004858	G	C	102004858	3	2	61	1	0	0	0	0	1	0	0	0	1420	1377	48	4	937	4	BHLHB9	23	102004858	Missense_Mutation	SNP	G	TCGA-A4-7286-01A-11D-2136-08		102004858	53265702	40	4305											
PLA2G2D	26279	hgsc.bcm.edu	37	1	20440719	20440719	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:20440719C>T	ENST00000375105.3	-	4	384	c.326G>A	c.(325-327)tGt>tAt	p.C109Y		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	109					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTCACAGGCACACAGCTGCTG	0.597										Multiple Myeloma(11;0.12)																											Melanoma(60;742 1548 31762 39240)											0													63	60	61					1																	20440719		2203	4300	6503	SO:0001583	missense	26279			AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.326G>A	chr1.hg19:g.20440719C>T	ENSP00000364246:p.Cys109Tyr		A8K2Z1|B1AEL9|Q9UK01	Missense_Mutation	SNP	ENST00000375105.3	hg19	CCDS203.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873650	0.72180	.	.	ENSG00000117215	ENST00000375105	D	0.86097	-2.07	5.2	5.2	0.72013	Phospholipase A2 (3);	0.000000	0.53938	D	0.000050	D	0.94443	0.8212	H	0.95365	3.66	0.47949	D	0.999553	D	0.89917	1.0	D	0.97110	1.0	D	0.95704	0.8752	10	0.87932	D	0	-24.7657	14.2445	0.65978	0.0:1.0:0.0:0.0	.	109	Q9UNK4	PA2GD_HUMAN	Y	109	ENSP00000364246:C109Y	ENSP00000364246:C109Y	C	-	2	0	PLA2G2D	20313306	0.996000	0.38824	0.998000	0.56505	0.910000	0.53928	4.132000	0.57977	2.443000	0.82685	0.462000	0.41574	TGT		0.597	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007683.1			T	20440719	C	T	20440719	3	4	62	1	0	0	0	0	1	0	0	0	11999	478	17	2	115	2	PLA2G2D	1	20440719	Missense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08		20440719	228809902	1	4306											
AGL	178	hgsc.bcm.edu	37	1	100327977	100327977	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:100327977C>G	ENST00000294724.4	+	4	936	c.458C>G	c.(457-459)tCa>tGa	p.S153*	AGL_ENST00000361302.3_Nonsense_Mutation_p.S137*|AGL_ENST00000370163.3_Nonsense_Mutation_p.S153*|AGL_ENST00000370161.2_Nonsense_Mutation_p.S137*|AGL_ENST00000361915.3_Nonsense_Mutation_p.S153*|AGL_ENST00000370165.3_Nonsense_Mutation_p.S153*|AGL_ENST00000361522.4_Nonsense_Mutation_p.S136*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	153					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCAAAAGAATCAGGTAATGTC	0.338																																																0													159	150	153					1																	100327977		2203	4300	6503	SO:0001587	stop_gained	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.458C>G	chr1.hg19:g.100327977C>G	ENSP00000294724:p.Ser153*		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Nonsense_Mutation	SNP	ENST00000294724.4	hg19	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	39	7.619744	0.98393	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.53	5.53	0.82687	.	0.435109	0.23914	N	0.043307	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.4571	0.94897	0.0:1.0:0.0:0.0	.	.	.	.	X	153;153;153;153;137;137;136	.	ENSP00000294724:S153X	S	+	2	0	AGL	100100565	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.764000	0.85297	2.599000	0.87857	0.655000	0.94253	TCA		0.338	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		G	100327977	C	G	100327977	4	3	62	1	0	0	0	0	0	1	0	0	384	838	29	4	537	4	AGL	1	100327977	Nonsense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08	79887258	100327977	148922644	2	4307											
NTRK1	4914	hgsc.bcm.edu	37	1	156843561	156843561	+	Silent	SNP	C	C	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:156843561C>T	ENST00000524377.1	+	8	1028	c.987C>T	c.(985-987)ttC>ttT	p.F329F	NTRK1_ENST00000368196.3_Silent_p.F329F|NTRK1_ENST00000392302.2_Silent_p.F299F|NTRK1_ENST00000358660.3_Silent_p.F329F	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	329	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GCTTCATCTTCACTGAGTTCC	0.617			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0													44	36	39					1																	156843561		2203	4299	6502	SO:0001819	synonymous_variant	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.987C>T	chr1.hg19:g.156843561C>T			B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	hg19	CCDS1161.1																																																																																				0.617	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		T	156843561	C	T	156843561	2	4	62	1	0	0	0	0	0	0	0	1	10708	825	29	2		2	NTRK1	1	156843561	Silent	SNP	C	TCGA-A4-7287-01A-11D-2136-08	56515584	156843561	92407060	3	4308											
GORAB	92344	hgsc.bcm.edu	37	1	170501324	170501324	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:170501324C>T	ENST00000367763.3	+	1	55	c.35C>T	c.(34-36)gCg>gTg	p.A12V	RP11-576I22.2_ENST00000456083.1_RNA|GORAB_ENST00000367762.1_Missense_Mutation_p.A12V|RP11-576I22.2_ENST00000421020.1_RNA	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	12						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GTCGCGGCTGCGAGATTTGGG	0.622																																																0													51	62	58					1																	170501324		2203	4300	6503	SO:0001583	missense	92344			AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"gerodermia osteodysplastica"	607983	"SCY1-like 1 binding protein 1"	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.35C>T	chr1.hg19:g.170501324C>T	ENSP00000356737:p.Ala12Val		Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	hg19	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836253	0.32421	.	.	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.79247	-0.28;-1.25	5.24	-10.5	0.00291	.	3.953700	0.00937	N	0.002796	T	0.28167	0.0695	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.14023	0.005;0.01	T	0.36986	-0.9725	10	0.37606	T	0.19	.	7.2128	0.25943	0.1379:0.6439:0.1383:0.0799	.	12;12	Q5T7V8-2;Q5T7V8	.;GORAB_HUMAN	V	12	ENSP00000356737:A12V;ENSP00000356736:A12V	ENSP00000356736:A12V	A	+	2	0	GORAB	168767948	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.322000	0.00253	-3.663000	0.00124	-1.000000	0.02509	GCG		0.622	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		T	170501324	C	T	170501324	3	4	62	1	0	0	0	0	1	0	0	0	6576	768	27	1	37	1	GORAB	1	170501324	Missense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08	13657763	170501324	78749297	4	4309											
RGS21	431704	hgsc.bcm.edu	37	1	192321246	192321246	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:192321246C>A	ENST00000417209.2	+	4	332	c.158C>A	c.(157-159)gCc>gAc	p.A53D		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	53	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTCTGGCTTGCCTGTGAAGAC	0.328																																																0													68	66	66					1																	192321246		1836	4106	5942	SO:0001583	missense	431704			AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"Regulators of G-protein signaling"	26839	protein-coding gene	gene with protein product		612407	"regulator of G-protein signalling 21"			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.158C>A	chr1.hg19:g.192321246C>A	ENSP00000428343:p.Ala53Asp			Missense_Mutation	SNP	ENST00000417209.2	hg19	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159165	0.94686	.	.	ENSG00000253148	ENST00000417209	T	0.02015	4.5	5.77	5.77	0.91146	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.33691	U	0.004656	T	0.14313	0.0346	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00016	-1.2383	10	0.87932	D	0	.	18.5418	0.91031	0.0:1.0:0.0:0.0	.	53	Q2M5E4	RGS21_HUMAN	D	53	ENSP00000428343:A53D	ENSP00000428343:A53D	A	+	2	0	RGS21	190587869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.747000	0.85070	2.733000	0.93635	0.557000	0.71058	GCC		0.328	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			A	192321246	C	A	192321246	3	1	62	1	0	0	0	0	1	0	0	0	13310	739	26	4	168	4	RGS21	1	192321246	Missense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08	21819922	192321246	56929375	5	4310											
CDC73	79577	hgsc.bcm.edu	37	1	193099338	193099338	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:193099338G>A	ENST00000367435.3	+	3	456	c.272G>A	c.(271-273)cGa>cAa	p.R91Q		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	91			R -> P (found in a patient with isolated hyperparathyroidism and parathyroid adenomas). {ECO:0000269|PubMed:17639062}.		cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R91Q(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGACCTGATCGAAAAGATCTA	0.294																																																1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM072926	CDC73	M							140	144	143					1																	193099338		2203	4300	6503	SO:0001583	missense	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.272G>A	chr1.hg19:g.193099338G>A	ENSP00000356405:p.Arg91Gln		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	hg19	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351125	0.95830	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.91407	-2.84	5.62	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95648	0.8585	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96226	0.9164	10	0.87932	D	0	-10.3544	14.535	0.67953	0.0704:0.0:0.9296:0.0	.	91	Q6P1J9	CDC73_HUMAN	Q	91	ENSP00000356405:R91Q	ENSP00000356405:R91Q	R	+	2	0	CDC73	191365961	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.743000	0.98849	1.377000	0.46286	0.561000	0.74099	CGA		0.294	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		A	193099338	G	A	193099338	3	1	62	1	0	0	0	0	1	0	0	0	3087	1058	37	1	282	1	CDC73	1	193099338	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08	778092	193099338	56151283	6	4311											
SNRPE	6635	hgsc.bcm.edu	37	1	203832834	203832834	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:203832834G>A	ENST00000414487.2	+	3	170	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	SNRPE_ENST00000367208.1_Missense_Mutation_p.R2Q|SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	42					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGAATATGCGGATAGAAGGC	0.428																																					Ovarian(83;324 1318 17952 32395 39614)											0													128	129	128					1																	203832834		2203	4300	6503	SO:0001583	missense	6635			M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.125G>A	chr1.hg19:g.203832834G>A	ENSP00000400591:p.Arg42Gln		B2R5B9|P08578|Q15498|Q5BKT2	Missense_Mutation	SNP	ENST00000414487.2	hg19	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058902	0.76074	.	.	ENSG00000182004	ENST00000414487;ENST00000367208	T;T	0.40756	1.02;1.02	5.35	5.35	0.76521	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.060085	0.64402	D	0.000002	T	0.40570	0.1122	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.15052	0.012	T	0.20940	-1.0260	9	0.54805	T	0.06	.	18.6824	0.91551	0.0:0.0:1.0:0.0	.	42	P62304	RUXE_HUMAN	Q	42;2	ENSP00000400591:R42Q;ENSP00000356176:R2Q	ENSP00000356176:R2Q	R	+	2	0	SNRPE	202099457	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.937000	0.87672	2.503000	0.84419	0.650000	0.86243	CGG		0.428	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094		A	203832834	G	A	203832834	3	1	62	1	0	0	0	0	1	0	0	0	14873	1116	39	1	135	1	SNRPE	1	203832834	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08	10733496	203832834	45417787	7	4312											
LBR	3930	hgsc.bcm.edu	37	1	225599084	225599084	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:225599084A>T	ENST00000338179.2	-	9	1268	c.1143T>A	c.(1141-1143)ttT>ttA	p.F381L	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Missense_Mutation_p.F381L	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	381					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATTTGAGATCAAAAGTACCAA	0.373																																																0													122	130	127					1																	225599084		2203	4300	6503	SO:0001583	missense	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1143T>A	chr1.hg19:g.225599084A>T	ENSP00000339883:p.Phe381Leu		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	hg19	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040696	0.55003	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000424022	D;D;D	0.96885	-4.16;-4.16;-4.16	6.16	2.64	0.31445	.	0.045876	0.85682	D	0.000000	D	0.93135	0.7814	L	0.33710	1.025	0.48288	D	0.99962	P	0.39782	0.688	P	0.46685	0.524	D	0.87185	0.2230	10	0.13853	T	0.58	-33.8453	9.3222	0.37971	0.796:0.0:0.204:0.0	.	381	Q14739	LBR_HUMAN	L	381;381;12	ENSP00000272163:F381L;ENSP00000339883:F381L;ENSP00000397817:F12L	ENSP00000272163:F381L	F	-	3	2	LBR	223665707	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.577000	0.53885	0.212000	0.20703	0.528000	0.53228	TTT		0.373	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		T	225599084	A	T	225599084	3	4	62	1	0	0	0	0	1	0	0	0	8654	127	5	5	728	5	LBR	1	225599084	Missense_Mutation	SNP	A	TCGA-A4-7287-01A-11D-2136-08	21766250	225599084	23651537	8	4313											
HYAL1	3373	hgsc.bcm.edu	37	3	50340364	50340364	+	Missense_Mutation	SNP	G	G	C	rs370239620		TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr3:50340364G>C	ENST00000266031.4	-	1	639	c.24C>G	c.(22-24)atC>atG	p.I8M	HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000320295.8_Missense_Mutation_p.I8M|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Missense_Mutation_p.I8M|HYAL1_ENST00000395143.2_Missense_Mutation_p.I8M			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	8					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGAGGGCGCAGATGGGAAGCA	0.607																																																0													35	38	37					3																	50340364		2203	4300	6503	SO:0001583	missense	3373			U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.24C>G	chr3.hg19:g.50340364G>C	ENSP00000266031:p.Ile8Met		Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	hg19	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780578	0.49891	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000418723;ENST00000452672	T;T;T;T;T;T	0.48522	2.16;2.16;2.16;1.83;0.81;0.81	5.3	1.26	0.21427	.	3.721710	0.00447	N	0.000080	T	0.49236	0.1545	L	0.50333	1.59	0.24266	N	0.99527	P;P;P	0.37636	0.603;0.603;0.468	B;B;B	0.42386	0.386;0.295;0.293	T	0.34179	-0.9839	10	0.46703	T	0.11	-3.0796	6.6937	0.23187	0.2193:0.0:0.6565:0.1242	.	8;8;8	Q12794-7;Q12794-2;Q12794	.;.;HYAL1_HUMAN	M	8	ENSP00000378576:I8M;ENSP00000266031:I8M;ENSP00000346068:I8M;ENSP00000378575:I8M;ENSP00000394526:I8M;ENSP00000391666:I8M	ENSP00000266031:I8M	I	-	3	3	HYAL1	50315368	0.761000	0.28439	0.005000	0.12908	0.266000	0.26442	1.468000	0.35332	0.324000	0.23333	0.655000	0.94253	ATC		0.607	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			C	50340364	G	C	50340364	3	2	62	1	0	0	0	0	1	0	0	0	7465	932	33	4	1295	4	HYAL1	3	50340364	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08		50340364	147682066	9	4314											
LMLN	89782	hgsc.bcm.edu	37	3	197687277	197687277	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr3:197687277C>A	ENST00000330198.4	+	1	207	c.185C>A	c.(184-186)cCt>cAt	p.P62H	LMLN_ENST00000420910.2_Missense_Mutation_p.P62H|IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000265239.6_5'Flank|LMLN_ENST00000332636.5_Intron|LMLN_ENST00000482695.1_Intron	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	62					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GGCAGTTCCCCTCCCTGCCGG	0.662																																																0													43	47	46					3																	197687277		2203	4300	6503	SO:0001583	missense	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.185C>A	chr3.hg19:g.197687277C>A	ENSP00000328829:p.Pro62His		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	hg19	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992122	0.54041	.	.	ENSG00000185621	ENST00000330198;ENST00000420910	T;T	0.41758	0.99;0.99	4.22	1.34	0.21922	.	0.647122	0.14803	N	0.297489	T	0.22003	0.0530	N	0.02011	-0.69	0.18873	N	0.999987	B;P	0.36249	0.003;0.545	B;P	0.47376	0.01;0.545	T	0.31364	-0.9946	10	0.16896	T	0.51	-1.1491	6.4356	0.21821	0.0:0.5507:0.349:0.1003	.	62;62	Q96KR4;F8WB28	LMLN_HUMAN;.	H	62	ENSP00000328829:P62H;ENSP00000410926:P62H	ENSP00000328829:P62H	P	+	2	0	LMLN	199171674	0.000000	0.05858	0.290000	0.24890	0.995000	0.86356	0.090000	0.15025	0.161000	0.19458	0.456000	0.33151	CCT		0.662	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		A	197687277	C	A	197687277	3	1	62	1	0	0	0	0	1	0	0	0	8849	681	24	4	187	4	LMLN	3	197687277	Missense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08	147346913	197687277	335153	10	4315											
DCK	1633	hgsc.bcm.edu	37	4	71892401	71892401	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr4:71892401C>A	ENST00000286648.5	+	6	1082	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K	DCK_ENST00000504730.1_Nonsense_Mutation_p.S190*|DCK_ENST00000504952.1_Missense_Mutation_p.Q229K	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	229					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CGATTATCTTCAAGAGGTGCC	0.284																																																0													43	45	44					4																	71892401		2202	4288	6490	SO:0001583	missense	1633			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.685C>A	chr4.hg19:g.71892401C>A	ENSP00000286648:p.Gln229Lys		B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	hg19	CCDS3548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.787431|4.787431	0.90367|0.90367	.|.	.|.	ENSG00000156136|ENSG00000156136	ENST00000286648;ENST00000504952|ENST00000504730	D;D|.	0.97870|.	-4.58;-4.58|.	5.78|5.78	4.92|4.92	0.64577|0.64577	.|.	0.274194|.	0.41194|.	D|.	0.000924|.	T|.	0.49864|.	0.1582|.	N|N	0.16233|0.16233	0.39|0.39	0.45272|0.45272	D|D	0.998276|0.998276	B|.	0.09022|.	0.002|.	B|.	0.09377|.	0.004|.	T|.	0.44483|.	-0.9325|.	10|.	0.05351|.	T|.	0.99|.	.|.	16.6255|16.6255	0.84969|0.84969	0.0:0.8699:0.1301:0.0|0.0:0.8699:0.1301:0.0	.|.	229|.	P27707|.	DCK_HUMAN|.	K|X	229|190	ENSP00000286648:Q229K;ENSP00000421508:Q229K|.	ENSP00000286648:Q229K|.	Q|S	+|+	1|2	0|0	DCK|DCK	72111265|72111265	0.983000|0.983000	0.35010|0.35010	0.987000|0.987000	0.45799|0.45799	0.467000|0.467000	0.32768|0.32768	3.040000|3.040000	0.49799|0.49799	1.391000|1.391000	0.46566|0.46566	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.284	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			A	71892401	C	A	71892401	3	1	62	1	0	0	0	0	1	0	0	0	4292	827	29	4	707	4	DCK	4	71892401	Missense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08		71892401	119261875	11	4316											
FAT4	79633	hgsc.bcm.edu	37	4	126371574	126371574	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr4:126371574G>A	ENST00000394329.3	+	9	9416	c.9403G>A	c.(9403-9405)Ggc>Agc	p.G3135S	FAT4_ENST00000335110.5_Missense_Mutation_p.G1433S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3135	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGAAGAAGGCATTTTTGC	0.388																																																0													67	68	68					4																	126371574		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9403G>A	chr4.hg19:g.126371574G>A	ENSP00000377862:p.Gly3135Ser		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464553	0.43736	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61859	0.07;0.07	5.63	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.000000	0.35067	U	0.003472	T	0.60650	0.2285	N	0.25647	0.755	0.80722	D	1	P;D;D	0.89917	0.839;1.0;1.0	B;D;D	0.97110	0.287;0.997;1.0	T	0.54951	-0.8216	10	0.08599	T	0.76	.	14.512	0.67794	0.0698:0.0:0.9302:0.0	.	1433;3135;3135	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	3135;1433	ENSP00000377862:G3135S;ENSP00000335169:G1433S	ENSP00000335169:G1433S	G	+	1	0	FAT4	126591024	1.000000	0.71417	0.835000	0.33067	0.669000	0.39330	7.835000	0.86780	1.389000	0.46526	0.655000	0.94253	GGC		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126371574	G	A	126371574	3	1	62	1	0	0	0	0	1	0	0	0	5694	1000	35	2	9437	2	FAT4	4	126371574	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08	54479173	126371574	64782702	12	4317											
HIST1H4C	8364	hgsc.bcm.edu	37	6	26104205	26104205	+	Silent	SNP	C	C	G	rs139978722	byFrequency	TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:26104205C>G	ENST00000377803.2	+	1	102	c.30C>G	c.(28-30)ggC>ggG	p.G10G		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	10					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						GCGGAAAAGGCTTGGGGAAGG	0.532																																																0													57	58	58					6																	26104205		2203	4300	6503	SO:0001819	synonymous_variant	8364			X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.30C>G	chr6.hg19:g.26104205C>G			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377803.2	hg19	CCDS4583.1																																																																																				0.532	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		G	26104205	C	G	26104205	2	3	62	1	0	0	0	0	0	0	0	1	7169	784	28	4		4	HIST1H4C	6	26104205	Silent	SNP	C	TCGA-A4-7287-01A-11D-2136-08		26104205	145010862	13	4318											
ZNF192	7745	hgsc.bcm.edu	37	6	28116192	28116192	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:28116192G>A	ENST00000330236.6	+	2	191	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E3K	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	3					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTAATGGCTGAAGAATCAAG	0.473																																																0													50	48	49					6																	28116192		2203	4300	6503	SO:0001583	missense	7745				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.7G>A	chr6.hg19:g.28116192G>A	ENSP00000332750:p.Glu3Lys		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	hg19	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614734	0.46631	.	.	ENSG00000198315	ENST00000330236;ENST00000457389;ENST00000536028	T;T;T	0.05580	3.42;3.42;3.99	5.2	-0.593	0.11667	.	1.155400	0.06424	N	0.722860	T	0.01189	0.0039	N	0.19112	0.55	0.22827	N	0.998682	B	0.02656	0.0	B	0.01281	0.0	T	0.48592	-0.9022	10	0.42905	T	0.14	.	3.6279	0.08120	0.2558:0.0:0.4473:0.2969	.	3	Q15776	ZN192_HUMAN	K	3	ENSP00000332750:E3K;ENSP00000402948:E3K;ENSP00000439117:E3K	ENSP00000332750:E3K	E	+	1	0	ZNF192	28224171	0.141000	0.22595	0.921000	0.36526	0.930000	0.56654	0.165000	0.16564	-0.225000	0.09913	0.563000	0.77884	GAA		0.473	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			A	28116192	G	A	28116192	3	1	62	1	0	0	0	0	1	0	0	0	17761	1291	45	2	9	2	ZNF192	6	28116192	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08	2011987	28116192	142998875	14	4319											
CRISP3	10321	hgsc.bcm.edu	37	6	49696475	49696475	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:49696475C>T	ENST00000393666.1	-	7	712	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	CRISP3_ENST00000423399.2_Missense_Mutation_p.A146T|CRISP3_ENST00000433368.2_Missense_Mutation_p.A259T|CRISP3_ENST00000371159.4_Missense_Mutation_p.A267T|CRISP3_ENST00000263045.4_Missense_Mutation_p.A249T			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	236	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGCAGGAGGCCTTGCAACTG	0.403																																																0													188	169	175					6																	49696475		2203	4300	6503	SO:0001583	missense	10321			X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.706G>A	chr6.hg19:g.49696475C>T	ENSP00000377274:p.Ala236Thr		A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.52	3.410104	0.62399	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.16073	2.88;2.87;2.9;2.37;2.87	4.55	4.55	0.56014	Cysteine-rich secretory protein (1);	0.089556	0.44285	U	0.000474	T	0.21921	0.0528	M	0.83483	2.645	0.30644	N	0.756123	D	0.60575	0.988	P	0.50590	0.645	T	0.06180	-1.0841	10	0.72032	D	0.01	.	13.1387	0.59423	0.0:1.0:0.0:0.0	.	236	P54108	CRIS3_HUMAN	T	249;259;236;146;267	ENSP00000263045:A249T;ENSP00000389026:A259T;ENSP00000377274:A236T;ENSP00000410469:A146T;ENSP00000360201:A267T	ENSP00000263045:A249T	A	-	1	0	CRISP3	49804434	0.287000	0.24315	0.827000	0.32855	0.121000	0.20230	1.129000	0.31381	2.236000	0.73375	0.609000	0.83330	GCC		0.403	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		T	49696475	C	T	49696475	3	4	62	1	0	0	0	0	1	0	0	0	3883	739	26	2	35	2	CRISP3	6	49696475	Missense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08	21580283	49696475	121418592	15	4320											
COL9A1	1297	hgsc.bcm.edu	37	6	70990561	70990561	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:70990561G>A	ENST00000357250.6	-	10	1087	c.929C>T	c.(928-930)cCg>cTg	p.P310L	COL9A1_ENST00000370499.4_Missense_Mutation_p.P67L|COL9A1_ENST00000370496.3_Missense_Mutation_p.P310L|COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000320755.7_Missense_Mutation_p.P67L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	310	Collagen-like 1.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGCTTTCCCGGTTCACCTGC	0.627																																																0													18	19	19					6																	70990561		2203	4300	6503	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.929C>T	chr6.hg19:g.70990561G>A	ENSP00000349790:p.Pro310Leu		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	hg19	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410959	0.25465	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499;ENST00000370496	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.28	5.6	4.72	0.59763	.	0.325795	0.37012	N	0.002296	D	0.90435	0.7005	M	0.84846	2.72	0.46981	D	0.999279	P;P	0.44429	0.835;0.516	B;B	0.38327	0.271;0.135	D	0.89481	0.3750	10	0.30854	T	0.27	.	15.4859	0.75569	0.0:0.139:0.861:0.0	.	310;67	P20849;P20849-2	CO9A1_HUMAN;.	L	310;67;67;310	ENSP00000349790:P310L;ENSP00000315252:P67L;ENSP00000359530:P67L;ENSP00000359527:P310L	ENSP00000315252:P67L	P	-	2	0	COL9A1	71047282	0.999000	0.42202	0.747000	0.31113	0.002000	0.02628	4.673000	0.61604	1.347000	0.45714	0.563000	0.77884	CCG		0.627	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			A	70990561	G	A	70990561	3	1	62	1	0	0	0	0	1	0	0	0	3709	1116	39	1	1952	1	COL9A1	6	70990561	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08	21294086	70990561	100124506	16	4321											
IMPG1	3617	hgsc.bcm.edu	37	6	76660465	76660465	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:76660465G>C	ENST00000369950.3	-	13	1827	c.1638C>G	c.(1636-1638)ttC>ttG	p.F546L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TATCCTCCAAGAAATGATCTG	0.483																																					Pancreas(37;839 1141 2599 26037)											0													93	79	84					6																	76660465		2203	4300	6503	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1638C>G	chr6.hg19:g.76660465G>C	ENSP00000358966:p.Phe546Leu			Missense_Mutation	SNP	ENST00000369950.3	hg19	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	9.188	1.025421	0.19512	.	.	ENSG00000112706	ENST00000369950	T	0.19532	2.14	5.67	0.817	0.18773	.	0.942898	0.08930	N	0.873167	T	0.08223	0.0205	M	0.73598	2.24	0.09310	N	1	B	0.26258	0.145	B	0.20955	0.032	T	0.42292	-0.9460	10	0.15066	T	0.55	.	8.972	0.35912	0.39:0.0:0.61:0.0	.	546	Q17R60	IMPG1_HUMAN	L	546	ENSP00000358966:F546L	ENSP00000358966:F546L	F	-	3	2	IMPG1	76717185	0.000000	0.05858	0.026000	0.17262	0.005000	0.04900	-0.651000	0.05372	0.055000	0.16094	-0.142000	0.14014	TTC		0.483	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		C	76660465	G	C	76660465	3	2	62	1	0	0	0	0	1	0	0	0	7730	933	33	4	775	4	IMPG1	6	76660465	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08	5669904	76660465	94454602	17	4322			1	8		4	3	172	N	G	2.306594e-08
IMPG1	3617	hgsc.bcm.edu	37	6	76660529	76660529	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:76660529G>A	ENST00000369950.3	-	13	1763	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGGAGTGTCAGACAGATCCAT	0.488																																					Pancreas(37;839 1141 2599 26037)											0													97	80	86					6																	76660529		2203	4300	6503	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1574C>T	chr6.hg19:g.76660529G>A	ENSP00000358966:p.Ser525Phe			Missense_Mutation	SNP	ENST00000369950.3	hg19	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206277	0.39003	.	.	ENSG00000112706	ENST00000369950	T	0.21031	2.03	4.94	2.19	0.27852	.	1.695600	0.02971	N	0.144359	T	0.07954	0.0199	L	0.38175	1.15	0.09310	N	0.999999	P	0.46706	0.883	B	0.44044	0.439	T	0.13361	-1.0512	10	0.39692	T	0.17	.	4.5254	0.11980	0.435:0.0:0.4185:0.1465	.	525	Q17R60	IMPG1_HUMAN	F	525	ENSP00000358966:S525F	ENSP00000358966:S525F	S	-	2	0	IMPG1	76717249	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.632000	0.24583	0.339000	0.23719	0.650000	0.86243	TCT		0.488	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		A	76660529	G	A	76660529	3	1	62	1	0	0	0	0	1	0	0	0	7730	942	33	2	839	2	IMPG1	6	76660529	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08	64	76660529	94454538	18	4323	44	2	1	8		4	3	172	N	G	2.306594e-08
IMPG1	3617	hgsc.bcm.edu	37	6	76660533	76660533	+	Silent	SNP	G	G	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:76660533G>A	ENST00000369950.3	-	13	1759	c.1570C>T	c.(1570-1572)Ctg>Ttg	p.L524L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTGTCAGACAGATCCATTTCA	0.493																																					Pancreas(37;839 1141 2599 26037)											0													99	82	88					6																	76660533		2203	4300	6503	SO:0001819	synonymous_variant	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1570C>T	chr6.hg19:g.76660533G>A				Silent	SNP	ENST00000369950.3	hg19	CCDS4985.1																																																																																				0.493	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		A	76660533	G	A	76660533	2	1	62	1	0	0	0	0	0	0	0	1	7730	933	33	2		2	IMPG1	6	76660533	Silent	SNP	G	TCGA-A4-7287-01A-11D-2136-08	4	76660533	94454534	19	4324	44	2	1	8		4	3	172	N	G	2.306594e-08
IMPG1	3617	hgsc.bcm.edu	37	6	76660636	76660636	+	Silent	SNP	G	G	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:76660636G>A	ENST00000369950.3	-	13	1656	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAGTTGGCTGATTGCAGAAT	0.498																																					Pancreas(37;839 1141 2599 26037)											0													159	151	153					6																	76660636		2203	4300	6503	SO:0001819	synonymous_variant	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1467C>T	chr6.hg19:g.76660636G>A				Silent	SNP	ENST00000369950.3	hg19	CCDS4985.1																																																																																				0.498	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		A	76660636	G	A	76660636	2	1	62	1	0	0	0	0	0	0	0	1	7730	1280	45	2		2	IMPG1	6	76660636	Silent	SNP	G	TCGA-A4-7287-01A-11D-2136-08	103	76660636	94454431	20	4325			1	8		4	3	172	N	G	2.306594e-08
LAMA4	3910	hgsc.bcm.edu	37	6	112454683	112454683	+	Silent	SNP	G	G	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:112454683G>C	ENST00000230538.7	-	27	3961	c.3564C>G	c.(3562-3564)ctC>ctG	p.L1188L	LAMA4_ENST00000389463.4_Silent_p.L1181L|LAMA4_ENST00000424408.2_Silent_p.L1181L|LAMA4_ENST00000522006.1_Silent_p.L1181L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1188	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTGTGCTCTGAGGGCCCTGG	0.438																																																0													101	96	97					6																	112454683		2203	4300	6503	SO:0001819	synonymous_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3564C>G	chr6.hg19:g.112454683G>C			Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	hg19	CCDS43491.1																																																																																				0.438	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		C	112454683	G	C	112454683	2	2	62	1	0	0	0	0	0	0	0	1	8610	1277	45	4		4	LAMA4	6	112454683	Silent	SNP	G	TCGA-A4-7287-01A-11D-2136-08	35794047	112454683	58660384	21	4326											
MSRA	4482	hgsc.bcm.edu	37	8	9912062	9912062	+	Silent	SNP	C	C	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr8:9912062C>T	ENST00000317173.4	+	1	285	c.36C>T	c.(34-36)ctC>ctT	p.L12L	MSRA_ENST00000441698.2_Silent_p.L12L|RP11-1E4.1_ENST00000562143.1_RNA|MSRA_ENST00000518255.1_Silent_p.L12L	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	12				Missing (in Ref. 6; AAG09689). {ECO:0000305}.	cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GCCAGCTCCTCCTCCTCCACA	0.716																																					NSCLC(88;1378 1469 30580 49103 52286)											0													36	35	36					8																	9912062		2203	4300	6503	SO:0001819	synonymous_variant	4482			BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.36C>T	chr8.hg19:g.9912062C>T			E9PAS8|Q52TC4|Q549N4|Q66MI7	Silent	SNP	ENST00000317173.4	hg19	CCDS5975.1																																																																																				0.716	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		T	9912062	C	T	9912062	2	4	62	1	0	0	0	0	0	0	0	1	9889	842	30	2		2	MSRA	8	9912062	Silent	SNP	C	TCGA-A4-7287-01A-11D-2136-08		9912062	136451960	22	4327			2	9		2	2	42	C		5.165137e-05
MSRA	4482	hgsc.bcm.edu	37	8	9912103	9912103	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr8:9912103C>T	ENST00000317173.4	+	1	326	c.77C>T	c.(76-78)tCg>tTg	p.S26L	MSRA_ENST00000441698.2_Missense_Mutation_p.S26L|RP11-1E4.1_ENST00000562143.1_RNA|MSRA_ENST00000518255.1_Missense_Mutation_p.S26L	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	26					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATGGGCAACTCGGCCTCGAAC	0.697																																					NSCLC(88;1378 1469 30580 49103 52286)											0													38	37	37					8																	9912103		2203	4300	6503	SO:0001583	missense	4482			BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.77C>T	chr8.hg19:g.9912103C>T	ENSP00000313921:p.Ser26Leu		E9PAS8|Q52TC4|Q549N4|Q66MI7	Missense_Mutation	SNP	ENST00000317173.4	hg19	CCDS5975.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622922	0.28889	.	.	ENSG00000175806	ENST00000317173;ENST00000441698;ENST00000518255	.	.	.	4.84	3.94	0.45596	.	0.300238	0.32015	N	0.006711	T	0.34629	0.0904	L	0.42245	1.32	0.34862	D	0.74275	D;B	0.53885	0.963;0.249	B;B	0.37601	0.254;0.036	T	0.50039	-0.8874	8	.	.	.	0.3672	10.6214	0.45483	0.1922:0.8078:0.0:0.0	.	26;26	Q9UJ68-4;Q9UJ68	.;MSRA_HUMAN	L	26	.	.	S	+	2	0	MSRA	9949513	0.147000	0.22687	0.178000	0.23040	0.019000	0.09904	1.820000	0.39032	1.113000	0.41760	0.313000	0.20887	TCG		0.697	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		T	9912103	C	T	9912103	3	4	62	1	0	0	0	0	1	0	0	0	9889	893	31	1	79	1	MSRA	8	9912103	Missense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08	41	9912103	136451919	23	4328			2	9		2	2	42	C		5.165137e-05
RAB11FIP1	80223	hgsc.bcm.edu	37	8	37730588	37730589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr8:37730588_37730589insG	ENST00000330843.4	-	4	1743_1744	c.1731_1732insC	c.(1729-1734)ccctctfs	p.S578fs	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	578	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCCAATTCAGAGGGGACAGATG	0.559																																																0																																										SO:0001589	frameshift_variant	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1732dupC	chr8.hg19:g.37730592_37730592dupG	ENSP00000331342:p.Ser578fs		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Ins	INS	ENST00000330843.4	hg19	CCDS34882.1																																																																																				0.559	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		G	37730589	-	G	37730588	7	5	62	1	0	1	1	0	0	0	0	0	12899	304	11	0	2131	0	RAB11FIP1	8	37730588	Frame_Shift_Ins	INS	-	TCGA-A4-7287-01A-11D-2136-08	27818485	37730588	108633434	24	4329											
ZNF189	7743	hgsc.bcm.edu	37	9	104170234	104170234	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr9:104170234G>C	ENST00000339664.2	+	3	313	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	ZNF189_ENST00000374861.3_Missense_Mutation_p.E48Q|ZNF189_ENST00000259395.4_Missense_Mutation_p.E20Q	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGATAAGGATGAGGAGCCAAC	0.368																																																0													58	60	60					9																	104170234		2202	4300	6502	SO:0001583	missense	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.184G>C	chr9.hg19:g.104170234G>C	ENSP00000342019:p.Glu62Gln		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	hg19	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	5.540	0.284544	0.10513	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.05580	5.66;5.66;3.42	4.79	4.79	0.61399	Krueppel-associated box (3);	0.000000	0.49916	D	0.000140	T	0.03220	0.0094	N	0.16201	0.385	0.34306	D	0.684889	B;B;B	0.33073	0.396;0.396;0.006	B;B;B	0.26864	0.074;0.074;0.011	T	0.43261	-0.9402	10	0.14252	T	0.57	.	9.2106	0.37316	0.0942:0.0:0.9058:0.0	.	47;48;62	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	Q	48;62;20	ENSP00000363995:E48Q;ENSP00000342019:E62Q;ENSP00000259395:E20Q	ENSP00000259395:E20Q	E	+	1	0	ZNF189	103210055	0.191000	0.23288	1.000000	0.80357	0.895000	0.52256	0.622000	0.24433	2.941000	0.99782	0.655000	0.94253	GAG		0.368	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		C	104170234	G	C	104170234	3	2	62	1	0	0	0	0	1	0	0	0	17759	1291	45	4	194	4	ZNF189	9	104170234	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08		104170234	37043197	25	4330											
OR10Q1	219960	hgsc.bcm.edu	37	11	57996225	57996225	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr11:57996225C>T	ENST00000316770.2	-	1	165	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CACAGAGGATCATCAAGTAGA	0.527																																																0													114	122	119					11																	57996225		2200	4294	6494	SO:0001583	missense	219960			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.123G>A	chr11.hg19:g.57996225C>T	ENSP00000314324:p.Met41Ile		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	hg19	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	8.116	0.779975	0.16120	.	.	ENSG00000180475	ENST00000316770	T	0.00392	7.58	5.28	2.25	0.28309	.	0.123417	0.36555	N	0.002525	T	0.00178	0.0005	N	0.13168	0.305	0.09310	N	1	B	0.34181	0.44	B	0.30646	0.118	T	0.31558	-0.9939	10	0.10377	T	0.69	.	11.4267	0.50015	0.136:0.3334:0.5306:0.0	.	41	Q8NGQ4	O10Q1_HUMAN	I	41	ENSP00000314324:M41I	ENSP00000314324:M41I	M	-	3	0	OR10Q1	57752801	0.000000	0.05858	0.013000	0.15412	0.626000	0.37791	-0.168000	0.09925	0.305000	0.22832	0.650000	0.86243	ATG		0.527	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		T	57996225	C	T	57996225	3	4	62	1	0	0	0	0	1	0	0	0	10918	826	29	2	840	2	OR10Q1	11	57996225	Missense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08		57996225	77010291	26	4331											
ZNF385A	25946	hgsc.bcm.edu	37	12	54764720	54764720	+	Silent	SNP	T	T	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr12:54764720T>C	ENST00000338010.5	-	6	878	c.825A>G	c.(823-825)caA>caG	p.Q275Q	ZNF385A_ENST00000551109.1_Silent_p.Q255Q|ZNF385A_ENST00000551771.1_Silent_p.Q174Q|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000546970.1_Silent_p.Q255Q|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Silent_p.Q194Q|ZNF385A_ENST00000394313.2_Silent_p.Q255Q	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	275	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCTGTTTCAGTTGGACCTCCG	0.597											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													89	96	94					12																	54764720		2203	4300	6503	SO:0001819	synonymous_variant	25946			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"zinc finger protein 385"	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.825A>G	chr12.hg19:g.54764720T>C		1002	B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Silent	SNP	ENST00000338010.5	hg19	CCDS44911.1																																																																																				0.597	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481		C	54764720	T	C	54764720	2	2	62	1	0	0	0	0	0	0	0	1	17881	1722	60	3		3	ZNF385A	12	54764720	Silent	SNP	T	TCGA-A4-7287-01A-11D-2136-08		54764720	79087175	27	4332											
C12orf74	338809	hgsc.bcm.edu	37	12	93100691	93100691	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr12:93100691C>G	ENST00000397833.3	+	2	735	c.284C>G	c.(283-285)tCt>tGt	p.S95C	C12orf74_ENST00000544406.2_Missense_Mutation_p.S95C	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	95										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCAAAGGATTCTTCACACTTG	0.582																																																0													55	59	58					12																	93100691		1914	4126	6040	SO:0001583	missense	338809			BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.284C>G	chr12.hg19:g.93100691C>G	ENSP00000380933:p.Ser95Cys		F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	hg19	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525193	0.27299	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.98	0.507	0.16967	.	.	.	.	.	T	0.24314	0.0589	N	0.24115	0.695	0.09310	N	1	B;B	0.20261	0.043;0.043	B;B	0.21546	0.035;0.035	T	0.20940	-1.0260	8	0.37606	T	0.19	.	3.0572	0.06188	0.175:0.401:0.327:0.097	.	95;95	F5H4P0;Q32Q52	.;CL074_HUMAN	C	95	.	ENSP00000380933:S95C	S	+	2	0	C12orf74	91624822	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.457000	0.06745	0.212000	0.20703	0.462000	0.41574	TCT		0.582	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		G	93100691	C	G	93100691	3	3	62	1	0	0	0	0	1	0	0	0	1716	913	32	4	286	4	C12orf74	12	93100691	Missense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08	38335971	93100691	40751204	28	4333											
COASY	80347	hgsc.bcm.edu	37	17	40717244	40717244	+	Splice_Site	SNP	G	G	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr17:40717244G>T	ENST00000393818.2	+	6	1758		c.e6-1		COASY_ENST00000421097.2_Splice_Site|COASY_ENST00000420359.1_Splice_Site|MLX_ENST00000246912.4_5'Flank|COASY_ENST00000590958.1_Splice_Site|MLX_ENST00000435881.2_5'Flank|COASY_ENST00000449624.1_Splice_Site|MLX_ENST00000346833.4_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase						cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCCCTCCCCAGAAGCAGCTGA	0.562																																																0													135	138	137					17																	40717244		2203	4300	6503	SO:0001630	splice_region_variant	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1303-1G>T	chr17.hg19:g.40717244G>T			B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Splice_Site	SNP	ENST00000393818.2	hg19	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197183	0.79015	.	.	ENSG00000068120	ENST00000421097;ENST00000449624;ENST00000420359;ENST00000393818	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7387	0.85454	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COASY	37970770	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.174000	0.89682	2.649000	0.89929	0.556000	0.70494	.		0.562	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233	Intron	T	40717244	G	T	40717244	5	4	62	1	0	0	0	0	0	0	1	0	3654	956	33	4	1415	4	COASY	17	40717244	Splice_Site	SNP	G	TCGA-A4-7287-01A-11D-2136-08		40717244	40477966	29	4334											
AOC2	314	hgsc.bcm.edu	37	17	40997487	40997487	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr17:40997487G>C	ENST00000253799.3	+	1	871	c.844G>C	c.(844-846)Gtg>Ctg	p.V282L	AOC2_ENST00000452774.2_Missense_Mutation_p.V282L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	282					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCGGTTGGAAGTGGTTAGAGT	0.572																																																0													85	85	85					17																	40997487		2203	4300	6503	SO:0001583	missense	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.844G>C	chr17.hg19:g.40997487G>C	ENSP00000253799:p.Val282Leu		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	hg19	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902404	0.33628	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.22945	1.93;1.93	5.75	5.75	0.90469	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.267133	0.37219	N	0.002188	T	0.18087	0.0434	N	0.08118	0	0.19945	N	0.99994	P;P	0.50617	0.533;0.937	B;P	0.49561	0.069;0.615	T	0.16424	-1.0403	10	0.10902	T	0.67	-33.3282	14.1397	0.65311	0.0717:0.0:0.9283:0.0	.	282;282	O75106;O75106-2	AOC2_HUMAN;.	L	282	ENSP00000253799:V282L;ENSP00000406134:V282L	ENSP00000253799:V282L	V	+	1	0	AOC2	38251013	0.986000	0.35501	0.707000	0.30419	0.755000	0.42902	2.284000	0.43478	2.720000	0.93068	0.561000	0.74099	GTG		0.572	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		C	40997487	G	C	40997487	3	2	62	1	0	0	0	0	1	0	0	0	727	1029	36	4	846	4	AOC2	17	40997487	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08	280243	40997487	40197723	30	4335											
MAPT	4137	hgsc.bcm.edu	37	17	44101444	44101444	+	Silent	SNP	C	C	G			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr17:44101444C>G	ENST00000571987.1	+	13	2184	c.2184C>G	c.(2182-2184)gtC>gtG	p.V728V	MAPT_ENST00000535772.1_Silent_p.V380V|MAPT_ENST00000344290.5_Silent_p.V746V|MAPT_ENST00000576518.1_Silent_p.V311V|MAPT_ENST00000420682.2_Silent_p.V382V|MAPT_ENST00000340799.5_Silent_p.V382V|MAPT_ENST00000415613.2_Silent_p.V746V|MAPT_ENST00000574436.1_Silent_p.V411V|MAPT_ENST00000446361.3_Silent_p.V353V|MAPT_ENST00000262410.5_Silent_p.V728V|MAPT_ENST00000334239.8_Silent_p.V322V|MAPT_ENST00000351559.5_Silent_p.V411V|MAPT_ENST00000431008.3_Silent_p.V380V|MAPT_ENST00000347967.5_Silent_p.V286V			P10636	TAU_HUMAN	microtubule-associated protein tau	728					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TCAGCAATGTCTCCTCCACCG	0.622																																																0													124	105	112					17																	44101444		2203	4300	6503	SO:0001819	synonymous_variant	4137			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.2184C>G	chr17.hg19:g.44101444C>G			P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	hg19	CCDS11501.1																																																																																				0.622	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		G	44101444	C	G	44101444	2	3	62	1	0	0	0	0	0	0	0	1	9299	900	32	4		4	MAPT	17	44101444	Silent	SNP	C	TCGA-A4-7287-01A-11D-2136-08	3103957	44101444	37093766	31	4336											
NDC80	10403	hgsc.bcm.edu	37	18	2616466	2616466	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr18:2616466G>C	ENST00000261597.4	+	17	2004	c.1822G>C	c.(1822-1824)Gat>Cat	p.D608H		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	608	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TGCTAAAGTTGATAGAGAATA	0.269																																																0													44	47	46					18																	2616466		2200	4284	6484	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1822G>C	chr18.hg19:g.2616466G>C	ENSP00000261597:p.Asp608His		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	hg19	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	8.778	0.927542	0.18056	.	.	ENSG00000080986	ENST00000261597	T	0.51325	0.71	5.32	3.48	0.39840	.	0.281499	0.39834	N	0.001252	T	0.43942	0.1270	M	0.62723	1.935	0.38915	D	0.957602	P	0.39216	0.664	B	0.38655	0.278	T	0.42498	-0.9448	10	0.46703	T	0.11	-22.92	9.4287	0.38597	0.0766:0.0:0.7799:0.1435	.	608	O14777	NDC80_HUMAN	H	608	ENSP00000261597:D608H	ENSP00000261597:D608H	D	+	1	0	NDC80	2606466	0.973000	0.33851	0.655000	0.29622	0.368000	0.29767	1.715000	0.37971	0.699000	0.31761	-0.266000	0.10368	GAT		0.269	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		C	2616466	G	C	2616466	3	2	62	1	0	0	0	0	1	0	0	0	10244	1290	45	4	1884	4	NDC80	18	2616466	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08		2616466	75460782	32	4337			3	10		2	2	52	G		6.424886e-05
NDC80	10403	hgsc.bcm.edu	37	18	2616517	2616517	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr18:2616517G>C	ENST00000261597.4	+	17	2055	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	625	Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AAATATTAAAGAGATTAGAGA	0.299																																																0													40	43	42					18																	2616517		2199	4282	6481	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1873G>C	chr18.hg19:g.2616517G>C	ENSP00000261597:p.Glu625Gln		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	hg19	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	7.891	0.732376	0.15507	.	.	ENSG00000080986	ENST00000261597	T	0.49432	0.78	5.47	4.59	0.56863	.	0.333418	0.34245	N	0.004123	T	0.34948	0.0915	L	0.47716	1.5	0.28039	N	0.933831	P	0.39216	0.664	B	0.34242	0.178	T	0.18871	-1.0323	10	0.15066	T	0.55	-4.8199	10.1561	0.42823	0.0768:0.137:0.7862:0.0	.	625	O14777	NDC80_HUMAN	Q	625	ENSP00000261597:E625Q	ENSP00000261597:E625Q	E	+	1	0	NDC80	2606517	1.000000	0.71417	0.991000	0.47740	0.167000	0.22549	2.210000	0.42816	1.407000	0.46875	0.555000	0.69702	GAG		0.299	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		C	2616517	G	C	2616517	3	2	62	1	0	0	0	0	1	0	0	0	10244	943	33	4	1935	4	NDC80	18	2616517	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08	51	2616517	75460731	33	4338			3	10		2	2	52	G		6.424886e-05
FBXW9	84261	hgsc.bcm.edu	37	19	12800616	12800616	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr19:12800616G>A	ENST00000380339.3	-	7	1231	c.1195C>T	c.(1195-1197)Cac>Tac	p.H399Y	FBXW9_ENST00000544494.1_Missense_Mutation_p.H107Y|CTD-2192J16.26_ENST00000593554.1_lincRNA|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000587955.1_Missense_Mutation_p.H389Y|FBXW9_ENST00000393261.3_Missense_Mutation_p.H369Y			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	399					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GCGAAGACGTGCAGCAGGCCC	0.647																																																0													63	62	62					19																	12800616		2203	4300	6503	SO:0001583	missense	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1195C>T	chr19.hg19:g.12800616G>A	ENSP00000369696:p.His399Tyr		B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	hg19		.	.	.	.	.	.	.	.	.	.	G	11.70	1.716443	0.30413	.	.	ENSG00000132004	ENST00000544494;ENST00000393261;ENST00000380339	T;T;T	0.75367	-0.93;-0.93;-0.93	4.62	3.5	0.40072	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.191473	0.45361	N	0.000365	T	0.48390	0.1497	N	0.11106	0.095	0.42212	D	0.991813	B;B;B	0.28880	0.226;0.011;0.002	B;B;B	0.22386	0.039;0.023;0.006	T	0.51356	-0.8716	10	0.51188	T	0.08	-14.7405	3.666	0.08255	0.3848:0.0:0.6152:0.0	.	389;399;369	Q5XUX1-2;Q5XUX1;Q5XUX1-3	.;FBXW9_HUMAN;.	Y	107;369;399	ENSP00000442714:H107Y;ENSP00000376945:H369Y;ENSP00000369696:H399Y	ENSP00000369696:H399Y	H	-	1	0	FBXW9	12661616	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	3.310000	0.51911	2.129000	0.65627	0.484000	0.47621	CAC		0.647	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		A	12800616	G	A	12800616	3	1	62	1	0	0	0	0	1	0	0	0	5773	1319	46	2	287	2	FBXW9	19	12800616	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08		12800616	46328367	34	4339											
LYPD3	27076	hgsc.bcm.edu	37	19	43967294	43967300	+	Frame_Shift_Del	DEL	GTTGCCG	GTTGCCG	-			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	GTTGCCG	GTTGCCG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr19:43967294_43967300delGTTGCCG	ENST00000244333.3	-	4	610_616	c.522_528delCGGCAAC	c.(520-528)gacggcaacfs	p.DGN174fs		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	174	UPAR/Ly6 2.				cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				TCAAGGTGACGTTGCCGTCGAAGCAGC	0.647																																																0																																										SO:0001589	frameshift_variant	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.522_528delCGGCAAC	chr19.hg19:g.43967294_43967300delGTTGCCG	ENSP00000244333:p.Asp174fs		Q9UJ74	Frame_Shift_Del	DEL	ENST00000244333.3	hg19	CCDS12620.1																																																																																				0.647	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		-	43967300	GTTGCCG	-	43967294	7	5	62	1	0	1	0	1	0	0	0	0	9113	1136	40	0	520	0	LYPD3	19	43967294	Frame_Shift_Del	DEL	GTTGCCG	TCGA-A4-7287-01A-11D-2136-08	31166678	43967294	15161689	35	4340											
SIRPG	55423	hgsc.bcm.edu	37	20	1615980	1615980	+	Silent	SNP	C	C	A	rs147655438		TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr20:1615980C>A	ENST00000303415.3	-	4	1078	c.1014G>T	c.(1012-1014)gcG>gcT	p.A338A	SIRPG_ENST00000381580.1_Silent_p.A305A|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	338	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GTTTGCTGACCGCCAGCTGCC	0.502																																																0													116	94	101					20																	1615980		2203	4300	6503	SO:0001819	synonymous_variant	55423			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1014G>T	chr20.hg19:g.1615980C>A			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000303415.3	hg19	CCDS13020.2																																																																																				0.502	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		A	1615980	C	A	1615980	2	1	62	1	0	0	0	0	0	0	0	1	14342	639	23	4		4	SIRPG	20	1615980	Silent	SNP	C	TCGA-A4-7287-01A-11D-2136-08		1615980	61409540	36	4341											
FTCD	10841	hgsc.bcm.edu	37	21	47571511	47571511	+	Silent	SNP	G	G	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr21:47571511G>T	ENST00000291670.5	-	5	640	c.597C>A	c.(595-597)atC>atA	p.I199I	FTCD_ENST00000498355.2_5'UTR|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397748.1_Silent_p.I199I|FTCD_ENST00000397746.3_Silent_p.I199I|FTCD_ENST00000397743.1_Silent_p.I199I|FTCD_ENST00000355384.2_Silent_p.I199I|FTCD_ENST00000359679.2_Silent_p.I199I	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	199	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GGTTGAGCGCGATGCGGTGGG	0.647																																																0													67	71	69					21																	47571511		2203	4300	6503	SO:0001819	synonymous_variant	10841			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.597C>A	chr21.hg19:g.47571511G>T			B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP	ENST00000291670.5	hg19	CCDS13731.1																																																																																				0.647	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		T	47571511	G	T	47571511	2	4	62	1	0	0	0	0	0	0	0	1	6083	1048	37	4		4	FTCD	21	47571511	Silent	SNP	G	TCGA-A4-7287-01A-11D-2136-08		47571511	558384	37	4342											
MSN	4478	hgsc.bcm.edu	37	X	64936758	64936758	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chrX:64936758G>C	ENST00000360270.5	+	2	263	c.91G>C	c.(91-93)Gac>Cac	p.D31H		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	31	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GCAGCTATTTGACCAGGTAAG	0.507			T	ALK	ALCL																																		Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													132	99	111					X																	64936758		2203	4300	6503	SO:0001583	missense	4478			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.91G>C	chrX.hg19:g.64936758G>C	ENSP00000353408:p.Asp31His			Missense_Mutation	SNP	ENST00000360270.5	hg19	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	g	17.67	3.446489	0.63178	.	.	ENSG00000147065	ENST00000360270	T	0.80304	-1.36	5.73	5.73	0.89815	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.90892	0.7138	H	0.98155	4.16	0.80722	D	1	P	0.43542	0.81	P	0.47891	0.56	D	0.93688	0.7004	10	0.87932	D	0	.	16.1334	0.81461	0.0:0.0:1.0:0.0	.	31	P26038	MOES_HUMAN	H	31	ENSP00000353408:D31H	ENSP00000353408:D31H	D	+	1	0	MSN	64853483	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	8.899000	0.92544	2.412000	0.81896	0.597000	0.82753	GAC		0.507	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		C	64936758	G	C	64936758	3	2	62	1	0	0	0	0	1	0	0	0	9887	1290	45	4	97	4	MSN	23	64936758	Missense_Mutation	SNP	G	TCGA-A4-7287-01A-11D-2136-08		64936758	90333802	38	4343											
OGT	8473	hgsc.bcm.edu	37	X	70782731	70782731	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chrX:70782731C>T	ENST00000373719.3	+	16	2229	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	OGT_ENST00000373701.3_Missense_Mutation_p.A661V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	671					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACGAGTGGTGCGCTTTTCATG	0.393																																																0													129	115	120					X																	70782731		2203	4300	6503	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2012C>T	chrX.hg19:g.70782731C>T	ENSP00000362824:p.Ala671Val		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	hg19	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612830	0.87258	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.18338	2.22;2.22	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.99;0.989	T	0.15435	-1.0437	10	0.23302	T	0.38	.	17.876	0.88825	0.0:1.0:0.0:0.0	.	545;661;671	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	V	671;661	ENSP00000362824:A671V;ENSP00000362805:A661V	ENSP00000362805:A661V	A	+	2	0	OGT	70699456	1.000000	0.71417	0.922000	0.36590	0.793000	0.44817	7.626000	0.83164	2.410000	0.81850	0.594000	0.82650	GCG		0.393	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		T	70782731	C	T	70782731	3	4	62	1	0	0	0	0	1	0	0	0	10849	768	27	1	2074	1	OGT	23	70782731	Missense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08	5845973	70782731	84487829	39	4344											
STAG2	10735	hgsc.bcm.edu	37	X	123197834	123197834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chrX:123197834C>A	ENST00000371160.1	+	20	2248	c.1958C>A	c.(1957-1959)tCa>tAa	p.S653*	STAG2_ENST00000371145.3_Nonsense_Mutation_p.S653*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.S584*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.S653*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.S653*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.S653*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	653					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTAGATATTTCAAGAAGTCAA	0.333																																																0													64	56	59					X																	123197834		2203	4300	6503	SO:0001587	stop_gained	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1958C>A	chrX.hg19:g.123197834C>A	ENSP00000360202:p.Ser653*		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	hg19	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	40	8.002701	0.98605	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.28	5.28	0.74379	.	0.124104	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-19.1078	18.0751	0.89424	0.0:1.0:0.0:0.0	.	.	.	.	X	653;584;653;653;653;653	.	ENSP00000218089:S653X	S	+	2	0	STAG2	123025515	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.759000	0.85235	2.203000	0.70933	0.600000	0.82982	TCA		0.333	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		A	123197834	C	A	123197834	4	1	62	1	0	0	0	0	0	1	0	0	15248	838	29	4	2028	4	STAG2	23	123197834	Nonsense_Mutation	SNP	C	TCGA-A4-7287-01A-11D-2136-08	52415103	123197834	32072726	40	4345											
DDI2	84301	hgsc.bcm.edu	37	1	15957021	15957021	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:15957021C>T	ENST00000480945.1	+	3	641	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	157							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAACGCAATCCACCCCTGGCA	0.502																																																0													90	85	86					1																	15957021		2203	4300	6503	SO:0001583	missense	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.470C>T	chr1.hg19:g.15957021C>T	ENSP00000417748:p.Pro157Leu		A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	hg19	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082015	0.94050	.	.	ENSG00000197312	ENST00000480945	T	0.43294	0.95	5.67	5.67	0.87782	.	0.000000	0.85682	U	0.000000	T	0.73674	0.3617	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79492	-0.1781	10	0.87932	D	0	-24.5775	19.3867	0.94560	0.0:1.0:0.0:0.0	.	157	Q5TDH0	DDI2_HUMAN	L	157	ENSP00000417748:P157L	ENSP00000449475:P42L	P	+	2	0	DDI2	15829608	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.323000	0.79105	2.684000	0.91462	0.650000	0.86243	CCA		0.502	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		T	15957021	C	T	15957021	3	4	63	1	0	0	0	0	1	0	0	0	4331	594	21	2	480	2	DDI2	1	15957021	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08		15957021	233293600	1	4346											
GALE	11313	hgsc.bcm.edu	37	1	24124297	24124297	+	IGR	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:24124297G>T	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Missense_Mutation_p.P139H|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CAGGTACTGGGGGTTCCCGTA	0.587																																																0																																										SO:0001628	intergenic_variant	2582			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		chr1.hg19:g.24124297G>T			Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	hg19	CCDS241.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199561	0.58126	.	.	ENSG00000117308	ENST00000374498;ENST00000374497;ENST00000429356;ENST00000418277;ENST00000425913;ENST00000445705	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	4.72	3.81	0.43845	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97877	1.0289	10	0.87932	D	0	-12.5969	12.5955	0.56468	0.0812:0.0:0.9188:0.0	.	65;75;139;139	B3KQ39;E9PH43;Q38G75;Q14376	.;.;.;GALE_HUMAN	H	75;139;75;75;139;139	ENSP00000363621:P139H;ENSP00000398585:P75H;ENSP00000414719:P75H;ENSP00000393359:P139H;ENSP00000398257:P139H	ENSP00000363621:P139H	P	-	2	0	GALE	23996884	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	9.191000	0.94940	1.224000	0.43551	-0.136000	0.14681	CCC		0.587	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			T	24124297	G	T	24124297	1	4	63	0	1	0	0	0	0	0	0	0	6204	1232	43	4		4	GALE	1	24124297	IGR	SNP	G	TCGA-A4-7288-01A-11D-2136-08	8167276	24124297	225126324	2	4347											
NUDC	10726	hgsc.bcm.edu	37	1	27250638	27250638	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:27250638A>G	ENST00000321265.5	+	2	263	c.140A>G	c.(139-141)gAa>gGa	p.E47G		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	47					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		ATTGGAGGAGAAGAAGGGATG	0.458																																																0													90	87	88					1																	27250638		2203	4300	6503	SO:0001583	missense	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"nuclear distribution gene C homolog (A. nidulans)", "nuclear distribution C homolog (A. nidulans)"				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.140A>G	chr1.hg19:g.27250638A>G	ENSP00000319664:p.Glu47Gly		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	ENST00000321265.5	hg19	CCDS292.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.191460	0.38707	.	.	ENSG00000090273	ENST00000435827;ENST00000321265	D	0.81908	-1.55	5.49	5.49	0.81192	.	0.143063	0.64402	D	0.000008	T	0.70798	0.3265	N	0.16790	0.44	0.54753	D	0.999987	B	0.06786	0.001	B	0.13407	0.009	T	0.65475	-0.6159	10	0.18710	T	0.47	-0.1195	14.4801	0.67576	1.0:0.0:0.0:0.0	.	47	Q9Y266	NUDC_HUMAN	G	51;47	ENSP00000319664:E47G	ENSP00000319664:E47G	E	+	2	0	NUDC	27123225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.005000	0.88553	2.222000	0.72286	0.533000	0.62120	GAA		0.458	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			G	27250638	A	G	27250638	3	3	63	1	0	0	0	0	1	0	0	0	10723	246	9	3	146	3	NUDC	1	27250638	Missense_Mutation	SNP	A	TCGA-A4-7288-01A-11D-2136-08	3126341	27250638	221999983	3	4348											
PARS2	25973	hgsc.bcm.edu	37	1	55224237	55224237	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:55224237G>T	ENST00000371279.3	-	2	680	c.598C>A	c.(598-600)Cgt>Agt	p.R200S		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	200					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TCTCGGCCACGGAGAAGACCA	0.552																																																0													78	80	80					1																	55224237		2203	4300	6503	SO:0001583	missense	25973			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.598C>A	chr1.hg19:g.55224237G>T	ENSP00000360327:p.Arg200Ser		A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	hg19	CCDS597.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364441	0.82463	.	.	ENSG00000162396	ENST00000371279	D	0.96830	-4.14	5.2	5.2	0.72013	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99509	1.0955	10	0.87932	D	0	-13.0894	18.7683	0.91881	0.0:0.0:1.0:0.0	.	200	Q7L3T8	SYPM_HUMAN	S	200	ENSP00000360327:R200S	ENSP00000360327:R200S	R	-	1	0	PARS2	54996825	1.000000	0.71417	0.964000	0.40570	0.890000	0.51754	9.614000	0.98353	2.419000	0.82065	0.557000	0.71058	CGT		0.552	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		T	55224237	G	T	55224237	3	4	63	1	0	0	0	0	1	0	0	0	11469	1116	39	4	833	4	PARS2	1	55224237	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08	27973599	55224237	194026384	4	4349											
DOCK7	85440	hgsc.bcm.edu	37	1	63119666	63119666	+	Silent	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:63119666T>C	ENST00000340370.5	-	3	326	c.309A>G	c.(307-309)gtA>gtG	p.V103V	DOCK7_ENST00000404627.2_Silent_p.V103V|DOCK7_ENST00000251157.5_Silent_p.V103V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	103					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTCTTCAGGTACAGCTGAAA	0.388																																																0													56	57	57					1																	63119666		2203	4300	6503	SO:0001819	synonymous_variant	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.309A>G	chr1.hg19:g.63119666T>C			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	hg19	CCDS30734.1																																																																																				0.388	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		C	63119666	T	C	63119666	2	2	63	1	0	0	0	0	0	0	0	1	4694	1625	57	3		3	DOCK7	1	63119666	Silent	SNP	T	TCGA-A4-7288-01A-11D-2136-08	7895429	63119666	186130955	5	4350											
CTH	1491	hgsc.bcm.edu	37	1	70877247	70877247	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:70877247G>C	ENST00000370938.3	+	1	293	c.149G>C	c.(148-150)gGg>gCg	p.G50A	CTH_ENST00000346806.2_Missense_Mutation_p.G50A|CTH_ENST00000411986.2_Missense_Mutation_p.G50A|CTH_ENST00000464926.1_3'UTR	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTCAAGCAAGGGGCGCCTGGC	0.572																																																0													51	50	50					1																	70877247		2203	4300	6503	SO:0001583	missense	1491			BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.149G>C	chr1.hg19:g.70877247G>C	ENSP00000359976:p.Gly50Ala		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	hg19	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.375323	0.01214	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.83673	-1.75;-1.55;-1.75	5.18	-8.32	0.00996	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.452490	0.03681	N	0.245551	T	0.29882	0.0747	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.14023	0.01;0.002;0.001	T	0.35822	-0.9773	10	0.20519	T	0.43	-5.4518	1.6154	0.02702	0.3741:0.2347:0.2428:0.1485	.	50;50;50	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	A	50	ENSP00000413407:G50A;ENSP00000359976:G50A;ENSP00000311554:G50A	ENSP00000311554:G50A	G	+	2	0	CTH	70649835	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-0.581000	0.05820	-1.909000	0.01085	-2.768000	0.00120	GGG		0.572	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		C	70877247	G	C	70877247	3	2	63	1	0	0	0	0	1	0	0	0	4011	1232	43	4	151	4	CTH	1	70877247	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08	7757581	70877247	178373374	6	4351											
DNTTIP2	30836	hgsc.bcm.edu	37	1	94337674	94337674	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:94337674C>A	ENST00000436063.2	-	5	2078	c.2021G>T	c.(2020-2022)aGa>aTa	p.R674I		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTTGTAAAATCTTTTCGGGTC	0.408																																																0													265	258	260					1																	94337674		1860	4107	5967	SO:0001583	missense	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.2021G>T	chr1.hg19:g.94337674C>A	ENSP00000411010:p.Arg674Ile		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	hg19	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550698	0.86127	.	.	ENSG00000067334	ENST00000436063	T	0.51817	0.69	6.02	5.1	0.69264	Fcf2 pre-rRNA processing (1);	0.159613	0.50627	D	0.000114	T	0.66607	0.2806	M	0.91920	3.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.75502	-0.3295	10	0.87932	D	0	.	11.1086	0.48218	0.0:0.7959:0.1307:0.0734	.	674	Q5QJE6	TDIF2_HUMAN	I	674	ENSP00000411010:R674I	ENSP00000411010:R674I	R	-	2	0	DNTTIP2	94110262	1.000000	0.71417	0.974000	0.42286	0.972000	0.66771	4.733000	0.62036	1.539000	0.49286	0.650000	0.86243	AGA		0.408	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		A	94337674	C	A	94337674	3	1	63	1	0	0	0	0	1	0	0	0	4684	913	32	4	261	4	DNTTIP2	1	94337674	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08	23460427	94337674	154912947	7	4352											
SETDB1	9869	hgsc.bcm.edu	37	1	150936790	150936790	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:150936790G>A	ENST00000271640.5	+	22	4016	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K	CERS2_ENST00000561294.1_3'UTR|RP11-316M1.12_ENST00000561111.1_RNA|SETDB1_ENST00000368969.4_Missense_Mutation_p.E1275K|CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000560481.1_RNA	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1276	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGGCAAGGAGCTACTCTG	0.507																																																0													183	141	155					1																	150936790		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3826G>A	chr1.hg19:g.150936790G>A	ENSP00000271640:p.Glu1276Lys		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	hg19	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	8.523	0.869314	0.17322	.	.	ENSG00000143379	ENST00000271640;ENST00000368969	D;D	0.87029	-2.2;-2.2	4.81	4.81	0.61882	Post-SET domain (2);	0.167783	0.50627	D	0.000103	T	0.51483	0.1677	N	0.04090	-0.28	0.80722	D	1	B;B	0.19445	0.036;0.02	B;B	0.17979	0.02;0.007	T	0.55373	-0.8151	10	0.02654	T	1	.	11.2196	0.48846	0.0851:0.0:0.9149:0.0	.	1275;1276	Q15047-3;Q15047	.;SETB1_HUMAN	K	1276;1275	ENSP00000271640:E1276K;ENSP00000357965:E1275K	ENSP00000271640:E1276K	E	+	1	0	SETDB1	149203414	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.694000	0.84235	2.493000	0.84123	0.462000	0.41574	GAG		0.507	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			A	150936790	G	A	150936790	3	1	63	1	0	0	0	0	1	0	0	0	14144	1175	41	2	3908	2	SETDB1	1	150936790	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08	56599116	150936790	98313831	8	4353											
SLC27A3	11000	hgsc.bcm.edu	37	1	153752431	153752431	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:153752431A>T	ENST00000368661.3	+	10	2211	c.2146A>T	c.(2146-2148)Aca>Tca	p.T716S	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Missense_Mutation_p.T797S	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	716					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGCCCCTCACAACTGCCCG	0.597																																																0													79	59	66					1																	153752431		2203	4300	6503	SO:0001583	missense	11000			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.2146A>T	chr1.hg19:g.153752431A>T	ENSP00000357650:p.Thr716Ser		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	hg19	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033819	0.75504	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.58797	0.31;0.33	4.36	4.36	0.52297	.	0.131608	0.49916	D	0.000131	T	0.47710	0.1460	L	0.49513	1.565	0.35861	D	0.827484	P	0.47545	0.897	P	0.51945	0.685	T	0.49331	-0.8951	10	0.33940	T	0.23	-10.5075	10.175	0.42933	1.0:0.0:0.0:0.0	.	716	Q5K4L6	S27A3_HUMAN	S	797;716	ENSP00000271857:T797S;ENSP00000357650:T716S	ENSP00000271857:T797S	T	+	1	0	SLC27A3	152019055	1.000000	0.71417	0.999000	0.59377	0.431000	0.31685	6.078000	0.71282	1.976000	0.57569	0.477000	0.44152	ACA		0.597	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		T	153752431	A	T	153752431	3	4	63	1	0	0	0	0	1	0	0	0	14533	159	6	5	2184	5	SLC27A3	1	153752431	Missense_Mutation	SNP	A	TCGA-A4-7288-01A-11D-2136-08	2815641	153752431	95498190	9	4354											
SLC4A5	57835	hgsc.bcm.edu	37	2	74458396	74458396	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:74458396C>A	ENST00000423644.1	-	24	3032	c.2635G>T	c.(2635-2637)Ggg>Tgg	p.G879W	SLC4A5_ENST00000346834.4_Silent_p.T938T|SLC4A5_ENST00000394019.2_Silent_p.T938T|SLC4A5_ENST00000357822.5_Silent_p.T938T|SLC4A5_ENST00000359484.4_Silent_p.T836T|SLC4A5_ENST00000377634.4_Silent_p.T938T|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Silent_p.T938T|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Silent_p.T836T					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGAGATTCCCGTCAGGATGA	0.562																																																0													179	146	157					2																	74458396		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000423644.1:c.2635G>T	chr2.hg19:g.74458396C>A	ENSP00000395804:p.Gly879Trp			Silent	SNP	ENST00000423644.1	hg19		.	.	.	.	.	.	.	.	.	.	C	5.936	0.356646	0.11239	.	.	ENSG00000188687	ENST00000423644;ENST00000425249	T;T	0.74315	-0.83;-0.47	4.47	-8.36	0.00980	.	.	.	.	.	T	0.52996	0.1769	.	.	.	0.19575	N	0.999969	B	0.11235	0.004	B	0.09377	0.004	T	0.41070	-0.9529	8	0.59425	D	0.04	.	1.6798	0.02830	0.3015:0.1537:0.0994:0.4453	.	841	E7EQT3	.	W	879;841	ENSP00000395804:G879W;ENSP00000405678:G841W	ENSP00000395804:G879W	G	-	1	0	SLC4A5	74311904	0.000000	0.05858	0.373000	0.26003	0.924000	0.55760	-4.346000	0.00249	-2.458000	0.00538	-2.805000	0.00112	GGG		0.562	SLC4A5-204	KNOWN	basic	protein_coding	protein_coding				A	74458396	C	A	74458396	3	1	63	1	0	0	0	0	1	0	0	0	14663	639	23	4	627	4	SLC4A5	2	74458396	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08		74458396	168740977	10	4355											
RANBP2	5903	hgsc.bcm.edu	37	2	109383218	109383218	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:109383218A>C	ENST00000283195.6	+	20	6349	c.6223A>C	c.(6223-6225)Atg>Ctg	p.M2075L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2075	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGAATGCTGATGCGAAGAGA	0.408																																																0													190	209	202					2																	109383218		2202	4285	6487	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6223A>C	chr2.hg19:g.109383218A>C	ENSP00000283195:p.Met2075Leu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	hg19	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065716	0.76187	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.50548	0.74	5.65	5.65	0.86999	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.69269	0.3092	M	0.73962	2.25	0.42261	D	0.992016	D	0.76494	0.999	D	0.83275	0.996	T	0.73603	-0.3930	9	0.72032	D	0.01	-23.7784	15.8694	0.79101	1.0:0.0:0.0:0.0	.	2075	P49792	RBP2_HUMAN	L	1099;2075	ENSP00000283195:M2075L	ENSP00000283195:M2075L	M	+	1	0	RANBP2	108749650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.143000	0.66587	0.455000	0.32223	ATG		0.408	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		C	109383218	A	C	109383218	3	2	63	1	0	0	0	0	1	0	0	0	13034	333	12	5	6301	5	RANBP2	2	109383218	Missense_Mutation	SNP	A	TCGA-A4-7288-01A-11D-2136-08	34924822	109383218	133816155	11	4356											
ZNF804A	91752	hgsc.bcm.edu	37	2	185802128	185802128	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:185802128G>C	ENST00000302277.6	+	4	2599	c.2005G>C	c.(2005-2007)Gac>Cac	p.D669H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	669							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATCCTTAAGTGACAATGAAGA	0.323																																																0													83	86	85					2																	185802128		2203	4297	6500	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2005G>C	chr2.hg19:g.185802128G>C	ENSP00000303252:p.Asp669His		A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	hg19	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829378	0.50845	.	.	ENSG00000170396	ENST00000302277	T	0.05996	3.36	5.54	4.47	0.54385	.	0.381496	0.22235	N	0.062766	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.33448	0.412	B	0.31191	0.125	T	0.41680	-0.9495	10	0.46703	T	0.11	-15.3768	10.7923	0.46440	0.0812:0.0:0.7837:0.1351	.	669	Q7Z570	Z804A_HUMAN	H	669	ENSP00000303252:D669H	ENSP00000303252:D669H	D	+	1	0	ZNF804A	185510373	0.943000	0.32029	0.885000	0.34714	0.589000	0.36550	1.746000	0.38288	2.609000	0.88269	0.655000	0.94253	GAC		0.323	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		C	185802128	G	C	185802128	3	2	63	1	0	0	0	0	1	0	0	0	18175	1290	45	4	2019	4	ZNF804A	2	185802128	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08	76418910	185802128	57397245	12	4357											
ANKRD44	91526	hgsc.bcm.edu	37	2	198001337	198001337	+	Silent	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:198001337C>A	ENST00000328737.2	-	4	241	c.165G>T	c.(163-165)cgG>cgT	p.R55R	ANKRD44_ENST00000282272.8_Silent_p.R72R|ANKRD44_ENST00000450567.1_Silent_p.R55R|ANKRD44_ENST00000539527.1_Silent_p.R8R|ANKRD44_ENST00000409919.1_Silent_p.R80R|ANKRD44_ENST00000409153.1_Silent_p.R80R|ANKRD44_ENST00000337207.5_Silent_p.R55R			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	80										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGCAACAGCCCGGTGCAGTG	0.443																																																0													86	86	86					2																	198001337		2203	4300	6503	SO:0001819	synonymous_variant	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.165G>T	chr2.hg19:g.198001337C>A			Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	hg19																																																																																					0.443	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		A	198001337	C	A	198001337	2	1	63	1	0	0	0	0	0	0	0	1	672	610	22	4		4	ANKRD44	2	198001337	Silent	SNP	C	TCGA-A4-7288-01A-11D-2136-08	12199209	198001337	45198036	13	4358											
DCP1A	55802	hgsc.bcm.edu	37	3	53376261	53376261	+	Silent	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:53376261G>T	ENST00000607628.1	-	3	323	c.214C>A	c.(214-216)Cga>Aga	p.R72R	DCP1A_ENST00000294241.6_Silent_p.R72R|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Silent_p.R72R	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	72					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		ATATTTAGTCGATTCACAATG	0.318																																																0													55	54	55					3																	53376261		1826	4080	5906	SO:0001819	synonymous_variant	55802			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.214C>A	chr3.hg19:g.53376261G>T			B4DHN9|U3KQM8	Silent	SNP	ENST00000607628.1	hg19																																																																																					0.318	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		T	53376261	G	T	53376261	2	4	63	1	0	0	0	0	0	0	0	1	4300	1066	37	4		4	DCP1A	3	53376261	Silent	SNP	G	TCGA-A4-7288-01A-11D-2136-08		53376261	144646169	14	4359											
MORC1	27136	hgsc.bcm.edu	37	3	108703606	108703606	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:108703606C>T	ENST00000483760.1	-	22	2261	c.2218G>A	c.(2218-2220)Gtt>Att	p.V740I	MORC1_ENST00000232603.5_Missense_Mutation_p.V761I					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTGCTAGAACATCATTGCAC	0.363																																																0													105	94	98					3																	108703606		2203	4299	6502	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2218G>A	chr3.hg19:g.108703606C>T	ENSP00000417282:p.Val740Ile			Missense_Mutation	SNP	ENST00000483760.1	hg19		.	.	.	.	.	.	.	.	.	.	C	1.485	-0.556108	0.03967	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05580	3.44;3.42	5.49	-3.41	0.04839	.	1.888090	0.02334	N	0.074205	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.41378	-0.9512	10	0.25751	T	0.34	3.2721	11.5425	0.50675	0.0:0.5909:0.0:0.4091	.	740;761	E7ERX1;Q86VD1	.;MORC1_HUMAN	I	761;740	ENSP00000232603:V761I;ENSP00000417282:V740I	ENSP00000232603:V761I	V	-	1	0	MORC1	110186296	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-1.274000	0.02820	-0.729000	0.04875	0.655000	0.94253	GTT		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			T	108703606	C	T	108703606	3	4	63	1	0	0	0	0	1	0	0	0	9703	478	17	2	697	2	MORC1	3	108703606	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08	55327345	108703606	89318824	15	4360											
PLOD2	5352	hgsc.bcm.edu	37	3	145803003	145803003	+	Silent	SNP	A	A	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:145803003A>T	ENST00000360060.3	-	11	1362	c.1185T>A	c.(1183-1185)gtT>gtA	p.V395V	PLOD2_ENST00000461497.1_Silent_p.V55V|PLOD2_ENST00000282903.5_Silent_p.V395V|PLOD2_ENST00000494950.1_Silent_p.V340V|RP11-274H2.2_ENST00000480247.1_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	395					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTGTCAAAACAACATCTGCAT	0.284																																																0													70	70	70					3																	145803003		2203	4297	6500	SO:0001819	synonymous_variant	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1185T>A	chr3.hg19:g.145803003A>T			B3KWS3|Q59ED2|Q8N170	Silent	SNP	ENST00000360060.3	hg19	CCDS3131.1																																																																																				0.284	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		T	145803003	A	T	145803003	2	4	63	1	0	0	0	0	0	0	0	1	12104	117	5	5		5	PLOD2	3	145803003	Silent	SNP	A	TCGA-A4-7288-01A-11D-2136-08	37099397	145803003	52219427	16	4361											
TBL1XR1	79718	hgsc.bcm.edu	37	3	176767825	176767825	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:176767825T>C	ENST00000430069.1	-	7	921	c.662A>G	c.(661-663)gAt>gGt	p.D221G	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D221G|TBL1XR1-AS1_ENST00000454723.2_RNA			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	221					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GCTTGGAACATCTTGCCCTCC	0.413																																																0													167	157	160					3																	176767825		2000	4151	6151	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.662A>G	chr3.hg19:g.176767825T>C	ENSP00000405574:p.Asp221Gly		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	hg19	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.486855	0.63962	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.54279	0.58;0.58	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.39514	1.22	0.80722	D	1	B	0.28933	0.228	B	0.29077	0.098	T	0.32508	-0.9904	10	0.23302	T	0.38	-8.7332	14.6231	0.68599	0.0:0.0:0.0:1.0	.	221	Q9BZK7	TBL1R_HUMAN	G	221;221;83	ENSP00000405574:D221G;ENSP00000413251:D221G	ENSP00000405574:D221G	D	-	2	0	TBL1XR1	178250519	1.000000	0.71417	0.971000	0.41717	0.936000	0.57629	8.031000	0.88826	2.100000	0.63781	0.533000	0.62120	GAT		0.413	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		C	176767825	T	C	176767825	3	2	63	1	0	0	0	0	1	0	0	0	15645	1435	50	3	922	3	TBL1XR1	3	176767825	Missense_Mutation	SNP	T	TCGA-A4-7288-01A-11D-2136-08	30964822	176767825	21254605	17	4362											
MAP3K13	9175	hgsc.bcm.edu	37	3	185191375	185191375	+	Silent	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:185191375G>A	ENST00000265026.3	+	11	2590	c.2256G>A	c.(2254-2256)ggG>ggA	p.G752G	MAP3K13_ENST00000446828.1_Silent_p.G545G|MAP3K13_ENST00000443863.1_Silent_p.G608G|MAP3K13_ENST00000535426.1_Silent_p.G608G|MAP3K13_ENST00000424227.1_Silent_p.G752G	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCCAGTGGGGAGGAGCCCTG	0.542																																																0													97	100	99					3																	185191375		2203	4300	6503	SO:0001819	synonymous_variant	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2256G>A	chr3.hg19:g.185191375G>A				Silent	SNP	ENST00000265026.3	hg19	CCDS3270.1																																																																																				0.542	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		A	185191375	G	A	185191375	2	1	63	1	0	0	0	0	0	0	0	1	9249	1161	41	2		2	MAP3K13	3	185191375	Silent	SNP	G	TCGA-A4-7288-01A-11D-2136-08	8423550	185191375	12831055	18	4363											
AHSG	197	hgsc.bcm.edu	37	3	186335047	186335047	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:186335047G>A	ENST00000273784.5	+	4	560	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	AHSG_ENST00000411641.2_Missense_Mutation_p.V161M	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	161	Cystatin fetuin-A-type 2. {ECO:0000255|PROSITE-ProRule:PRU00861}.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649). {ECO:0000305}.	acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CACCAGGGTGGTGCACGCCGC	0.612											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													71	68	69					3																	186335047		2203	4300	6503	SO:0001583	missense	197			D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.484G>A	chr3.hg19:g.186335047G>A	ENSP00000273784:p.Val162Met	2006	A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	hg19		.	.	.	.	.	.	.	.	.	.	g	16.33	3.091941	0.55968	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.27720	1.65;1.65	5.61	2.7	0.31948	Proteinase inhibitor I25, cystatin (2);	0.536617	0.18379	N	0.143005	T	0.51398	0.1672	M	0.82323	2.585	0.30380	N	0.782048	D;D;D;D	0.76494	0.999;0.999;0.974;0.997	D;D;P;D	0.79108	0.983;0.992;0.842;0.985	T	0.52653	-0.8547	10	0.87932	D	0	-14.4644	4.9244	0.13885	0.1851:0.1755:0.6394:0.0	.	227;161;162;161	F5H0Q5;P02765;C9JV77;B7Z556	.;FETUA_HUMAN;.;.	M	161;227;162	ENSP00000393887:V161M;ENSP00000273784:V162M	ENSP00000273784:V162M	V	+	1	0	AHSG	187817741	0.998000	0.40836	1.000000	0.80357	0.460000	0.32559	0.737000	0.26144	1.513000	0.48852	0.561000	0.74099	GTG		0.612	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		A	186335047	G	A	186335047	3	1	63	1	0	0	0	0	1	0	0	0	420	1261	44	2	495	2	AHSG	3	186335047	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08	1143672	186335047	11687383	19	4364											
WHSC2	7469	hgsc.bcm.edu	37	4	1985129	1985129	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:1985129C>T	ENST00000411638.2	-	11	1519	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M	NELFA_ENST00000542778.1_Missense_Mutation_p.V367M|MIR943_ENST00000401286.1_RNA|NELFA_ENST00000382882.3_Missense_Mutation_p.V513M	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	502					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										ACTGTGTCCACCAGCATGGTT	0.592																																																0													223	192	203					4																	1985129		2203	4300	6503	SO:0001583	missense	7469			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1504G>A	chr4.hg19:g.1985129C>T	ENSP00000399165:p.Val502Met		A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	hg19		.	.	.	.	.	.	.	.	.	.	C	31	5.095651	0.94197	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78193	-0.2299	10	0.87932	D	0	-33.4962	18.8462	0.92208	0.0:1.0:0.0:0.0	.	502	Q9H3P2	NELFA_HUMAN	M	513;506;367;502	ENSP00000372335:V513M;ENSP00000387647:V506M;ENSP00000445757:V367M;ENSP00000399165:V502M	ENSP00000372335:V513M	V	-	1	0	WHSC2	1954927	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.720000	0.84759	2.466000	0.83321	0.462000	0.41574	GTG		0.592	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		T	1985129	C	T	1985129	3	4	63	1	0	0	0	0	1	0	0	0	17369	507	18	2	86	2	WHSC2	4	1985129	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08		1985129	189169147	20	4365											
COMMD8	54951	hgsc.bcm.edu	37	4	47462160	47462160	+	Splice_Site	DEL	C	C	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:47462160delC	ENST00000381571.4	-	2	290		c.e2+1			NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8											large_intestine(2)|lung(5)|prostate(1)	8						AGAGAAGTTACCTCTTCATCA	0.338																																																0													93	97	96					4																	47462160		2203	4300	6503	SO:0001630	splice_region_variant	54951			AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.222+1G>-	chr4.hg19:g.47462160delC			Q8WUR4|Q9HC15	Splice_Site	DEL	ENST00000381571.4	hg19	CCDS3475.1																																																																																				0.338	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845	Intron	-	47462160	C	-	47462160	8	5	63	1	0	1	0	1	0	0	1	0	3724	521	18	0	344	0	COMMD8	4	47462160	Splice_Site	DEL	C	TCGA-A4-7288-01A-11D-2136-08	45477031	47462160	143692116	21	4366	45	2									
COMMD8	54951	hgsc.bcm.edu	37	4	47462163	47462163	+	Missense_Mutation	SNP	C	C	T	rs550666373		TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:47462163C>T	ENST00000381571.4	-	2	287	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	74										large_intestine(2)|lung(5)|prostate(1)	8						GAAGTTACCTCTTCATCAGGT	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		16976	0.0		0.0	False		,,,				2504	0.001															0													94	98	97					4																	47462163		2203	4300	6503	SO:0001583	missense	54951			AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.220G>A	chr4.hg19:g.47462163C>T	ENSP00000370984:p.Glu74Lys		Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	hg19	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835702	0.50951	.	.	ENSG00000169019	ENST00000381571	T	0.10382	2.88	5.48	4.45	0.53987	.	0.093678	0.64402	D	0.000001	T	0.12475	0.0303	L	0.54908	1.71	0.53688	D	0.999977	B	0.21688	0.059	B	0.21917	0.037	T	0.05305	-1.0893	10	0.26408	T	0.33	-13.9433	14.0881	0.64971	0.0:0.9117:0.0:0.0883	.	74	Q9NX08	COMD8_HUMAN	K	74	ENSP00000370984:E74K	ENSP00000370984:E74K	E	-	1	0	COMMD8	47156920	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.167000	0.50793	2.574000	0.86865	0.591000	0.81541	GAG		0.338	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		T	47462163	C	T	47462163	3	4	63	1	0	0	0	0	1	0	0	0	3724	922	32	2	347	2	COMMD8	4	47462163	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08	3	47462163	143692113	22	4367	45	2									
CEP135	9662	hgsc.bcm.edu	37	4	56847415	56847423	+	In_Frame_Del	DEL	TAAGAAAGG	TAAGAAAGG	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	TAAGAAAGG	TAAGAAAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:56847415_56847423delTAAGAAAGG	ENST00000257287.4	+	13	1773_1781	c.1649_1657delTAAGAAAGG	c.(1648-1659)ctaagaaaggaa>caa	p.550_553LRKE>Q		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	550					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTATCTGCCCTAAGAAAGGAATCCACCCA	0.321																																																0																																										SO:0001651	inframe_deletion	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1649_1657delTAAGAAAGG	chr4.hg19:g.56847415_56847423delTAAGAAAGG	ENSP00000257287:p.Leu550_Glu553delinsGln		B2RMY0|O75130|Q58F25|Q9H8H7	In_Frame_Del	DEL	ENST00000257287.4	hg19	CCDS33986.1																																																																																				0.321	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		-	56847423	TAAGAAAGG	-	56847415	7	5	63	1	0	1	0	1	0	0	0	0	3249	1522	53	0	1695	0	CEP135	4	56847415	In_Frame_Del	DEL	TAAGAAAGG	TCGA-A4-7288-01A-11D-2136-08	9385252	56847415	134306861	23	4368											
AASDH	132949	hgsc.bcm.edu	37	4	57204741	57204741	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:57204741A>G	ENST00000205214.6	-	15	3304	c.3124T>C	c.(3124-3126)Tct>Cct	p.S1042P	AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000434343.2_Missense_Mutation_p.S557P|AASDH_ENST00000513376.1_Missense_Mutation_p.S942P	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1042					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CCATCAGTAGATGCTGCTGCC	0.443																																																0													83	78	80					4																	57204741		2203	4300	6503	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.3124T>C	chr4.hg19:g.57204741A>G	ENSP00000205214:p.Ser1042Pro		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	hg19	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	A	31	5.102080	0.94245	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343	T;T;T	0.58797	0.31;0.31;0.31	6.04	6.04	0.98038	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.81592	0.4855	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85713	0.1320	10	0.87932	D	0	-12.0294	16.6275	0.84975	1.0:0.0:0.0:0.0	.	1042	Q4L235	ACSF4_HUMAN	P	1042;942;557	ENSP00000205214:S1042P;ENSP00000423760:S942P;ENSP00000392158:S557P	ENSP00000205214:S1042P	S	-	1	0	AASDH	56899498	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.532000	0.81985	2.330000	0.79161	0.529000	0.55759	TCT		0.443	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		G	57204741	A	G	57204741	3	3	63	1	0	0	0	0	1	0	0	0	22	333	12	3	176	3	AASDH	4	57204741	Missense_Mutation	SNP	A	TCGA-A4-7288-01A-11D-2136-08	357326	57204741	133949535	24	4369											
RG9MTD2	93587	hgsc.bcm.edu	37	4	100470297	100470297	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:100470297T>C	ENST00000273962.3	-	8	1280	c.968A>G	c.(967-969)aAg>aGg	p.K323R	TRMT10A_ENST00000394877.3_Missense_Mutation_p.K323R|TRMT10A_ENST00000394876.2_Missense_Mutation_p.K323R	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	323					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CTTATCCTGCTTTTCTTCATG	0.408																																																0													229	204	212					4																	100470297		2203	4300	6503	SO:0001583	missense	93587			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.968A>G	chr4.hg19:g.100470297T>C	ENSP00000273962:p.Lys323Arg		B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	hg19	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557204	0.27827	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.18338	2.22;2.22;2.22	5.77	3.27	0.37495	.	2.001830	0.01754	N	0.030106	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	1	B	0.28713	0.22	B	0.21708	0.036	T	0.25779	-1.0122	10	0.16896	T	0.51	-3.9397	7.5405	0.27735	0.0:0.0782:0.1452:0.7766	.	323	Q8TBZ6	RG9D2_HUMAN	R	323	ENSP00000378343:K323R;ENSP00000273962:K323R;ENSP00000378342:K323R	ENSP00000273962:K323R	K	-	2	0	RG9MTD2	100689320	0.014000	0.17966	0.146000	0.22360	0.546000	0.35178	1.895000	0.39778	1.082000	0.41137	0.533000	0.62120	AAG		0.408	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		C	100470297	T	C	100470297	3	2	63	1	0	0	0	0	1	0	0	0	13278	1609	56	3	55	3	RG9MTD2	4	100470297	Missense_Mutation	SNP	T	TCGA-A4-7288-01A-11D-2136-08	43265556	100470297	90683979	25	4370											
TET2	54790	hgsc.bcm.edu	37	4	106156045	106156045	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:106156045T>A	ENST00000540549.1	+	3	1806	c.946T>A	c.(946-948)Ttt>Att	p.F316I	TET2_ENST00000545826.1_Missense_Mutation_p.F316I|TET2_ENST00000394764.1_Missense_Mutation_p.F316I|TET2_ENST00000305737.2_Missense_Mutation_p.F316I|TET2_ENST00000380013.4_Missense_Mutation_p.F316I|TET2_ENST00000513237.1_Missense_Mutation_p.F337I|TET2_ENST00000413648.2_Missense_Mutation_p.F316I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	316					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TACCTGTTCCTTTCAGAAACC	0.453			"Mis N, F"		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													85	82	83					4																	106156045		2203	4300	6503	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.946T>A	chr4.hg19:g.106156045T>A	ENSP00000442788:p.Phe316Ile		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	hg19	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030078	0.35797	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.04970	3.53;4.27;3.52;4.26;4.27;3.53;3.55	4.98	-0.249	0.13011	.	2.314700	0.02876	U	0.132326	T	0.06005	0.0156	L	0.29908	0.895	0.24527	N	0.994132	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.12156	0.002;0.002;0.007	T	0.41538	-0.9503	10	0.66056	D	0.02	.	4.0271	0.09692	0.2106:0.5083:0.0:0.2811	.	337;316;316	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	316;316;316;337;316;316;316;316	ENSP00000306705:F316I;ENSP00000442788:F316I;ENSP00000442867:F316I;ENSP00000425443:F337I;ENSP00000369351:F316I;ENSP00000378245:F316I;ENSP00000391448:F316I	ENSP00000265149:F316I	F	+	1	0	TET2	106375494	0.211000	0.23529	0.867000	0.34043	0.171000	0.22731	0.357000	0.20199	-0.016000	0.14127	0.533000	0.62120	TTT		0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		A	106156045	T	A	106156045	3	1	63	1	0	0	0	0	1	0	0	0	15775	1609	56	5	948	5	TET2	4	106156045	Missense_Mutation	SNP	T	TCGA-A4-7288-01A-11D-2136-08	5685748	106156045	84998231	26	4371											
SLC12A7	10723	hgsc.bcm.edu	37	5	1064225	1064225	+	Silent	SNP	C	C	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr5:1064225C>G	ENST00000264930.5	-	19	2623	c.2580G>C	c.(2578-2580)ctG>ctC	p.L860L	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	860					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGAAGGGCAGCAGCATGAGCA	0.697																																																0													43	38	39					5																	1064225		2200	4296	6496	SO:0001819	synonymous_variant	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2580G>C	chr5.hg19:g.1064225C>G			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	hg19	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	7.240	0.601120	0.13939	.	.	ENSG00000113504	ENST00000513223	.	.	.	4.26	3.35	0.38373	.	.	.	.	.	T	0.54415	0.1857	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47761	-0.9092	4	.	.	.	.	5.8497	0.18685	0.2009:0.696:0.0:0.1031	.	.	.	.	P	218	.	.	A	-	1	0	SLC12A7	1117225	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	1.547000	0.36190	0.716000	0.32124	0.313000	0.20887	GCT		0.697	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		G	1064225	C	G	1064225	2	3	63	1	0	0	0	0	0	0	0	1	14394	697	25	4		4	SLC12A7	5	1064225	Silent	SNP	C	TCGA-A4-7288-01A-11D-2136-08		1064225	179851035	27	4372											
TNPO1	3842	hgsc.bcm.edu	37	5	72192301	72192301	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr5:72192301A>G	ENST00000337273.5	+	19	2586	c.2160A>G	c.(2158-2160)atA>atG	p.I720M	TNPO1_ENST00000506351.2_Missense_Mutation_p.I712M|TNPO1_ENST00000523768.1_Missense_Mutation_p.I670M|TNPO1_ENST00000454282.1_Missense_Mutation_p.I670M	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	720					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TCATGCCAATATTGGGAACCA	0.338																																																0													62	61	62					5																	72192301		2203	4300	6503	SO:0001583	missense	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2160A>G	chr5.hg19:g.72192301A>G	ENSP00000336712:p.Ile720Met		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	hg19	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971943	0.34754	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.66	1.57	0.23409	Armadillo-like helical (1);Armadillo-type fold (1);	0.084050	0.85682	D	0.000000	T	0.40145	0.1105	M	0.84773	2.715	0.80722	D	1	B;B	0.21225	0.053;0.011	B;B	0.28232	0.087;0.029	T	0.29058	-1.0024	10	0.52906	T	0.07	-14.1628	6.2257	0.20706	0.3859:0.1164:0.0:0.4977	.	670;720	Q92973-3;Q92973	.;TNPO1_HUMAN	M	720;670;670;712;231	ENSP00000336712:I720M;ENSP00000398524:I670M;ENSP00000428899:I670M;ENSP00000425118:I712M	ENSP00000336712:I720M	I	+	3	3	TNPO1	72228057	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.854000	0.27791	0.371000	0.24564	-0.316000	0.08728	ATA		0.338	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		G	72192301	A	G	72192301	3	3	63	1	0	0	0	0	1	0	0	0	16340	439	16	3	2234	3	TNPO1	5	72192301	Missense_Mutation	SNP	A	TCGA-A4-7288-01A-11D-2136-08	71128076	72192301	108722959	28	4373											
TRAF3IP2	10758	hgsc.bcm.edu	37	6	111912700	111912700	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr6:111912700G>T	ENST00000340026.6	-	3	1211	c.617C>A	c.(616-618)aCg>aAg	p.T206K	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.T197K|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.T197K|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	206	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		ATCATATCCCGTGTCTATGGT	0.627																																																0													61	62	62					6																	111912700		2203	4300	6503	SO:0001583	missense	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.617C>A	chr6.hg19:g.111912700G>T	ENSP00000345984:p.Thr206Lys		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	hg19		.	.	.	.	.	.	.	.	.	.	G	18.22	3.576782	0.65878	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.37584	1.2;1.2;1.19	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.97;0.987;0.97	T	0.52011	-0.8632	10	0.87932	D	0	-10.0022	12.3995	0.55404	0.0771:0.0:0.9229:0.0	.	206;197;197	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	K	206;197;206;197	ENSP00000357750:T197K;ENSP00000345984:T206K;ENSP00000352889:T197K	ENSP00000345984:T206K	T	-	2	0	TRAF3IP2	112019393	1.000000	0.71417	0.988000	0.46212	0.642000	0.38348	3.685000	0.54678	2.702000	0.92279	0.555000	0.69702	ACG		0.627	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			T	111912700	G	T	111912700	3	4	63	1	0	0	0	0	1	0	0	0	16446	1145	40	4	1139	4	TRAF3IP2	6	111912700	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08		111912700	59202367	29	4374											
LPL	4023	hgsc.bcm.edu	37	8	19816813	19816813	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:19816813G>C	ENST00000311322.8	+	7	1531	c.1061G>C	c.(1060-1062)aGt>aCt	p.S354T		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	354	Heparin-binding. {ECO:0000250}.|PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GGGACTGAGAGTGAAACCCAT	0.453																																																0													111	99	103					8																	19816813		2203	4300	6503	SO:0001583	missense	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1061G>C	chr8.hg19:g.19816813G>C	ENSP00000309757:p.Ser354Thr		B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	hg19	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	0.380	-0.928995	0.02359	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	T	0.62364	0.03	5.93	0.818	0.18778	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	6.232250	0.00166	N	0.000000	T	0.45776	0.1359	N	0.19112	0.55	0.21675	N	0.999596	B	0.02656	0.0	B	0.08055	0.003	T	0.13980	-1.0489	8	.	.	.	-1.2704	4.6754	0.12710	0.3185:0.2811:0.4004:0.0	.	354	P06858	LIPL_HUMAN	T	354;340	ENSP00000309757:S354T	.	S	+	2	0	LPL	19861093	0.007000	0.16637	0.000000	0.03702	0.149000	0.21700	0.725000	0.25970	-0.125000	0.11703	0.643000	0.83706	AGT		0.453	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			C	19816813	G	C	19816813	3	2	63	1	0	0	0	0	1	0	0	0	8923	1029	36	4	1087	4	LPL	8	19816813	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08		19816813	126547209	30	4375											
RP1	6101	hgsc.bcm.edu	37	8	55540098	55540099	+	Frame_Shift_Ins	INS	-	-	T	rs139588212|rs145115379		TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:55540098_55540099insT	ENST00000220676.1	+	4	3804_3805	c.3656_3657insT	c.(3655-3660)agtgttfs	p.V1220fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1220					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACATTCAGAGTGTTCCTAAGT	0.446																																					Colon(91;1014 1389 7634 14542 40420)											0																																										SO:0001589	frameshift_variant	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3657dupT	chr8.hg19:g.55540099_55540099dupT	ENSP00000220676:p.Val1220fs			Frame_Shift_Ins	INS	ENST00000220676.1	hg19	CCDS6160.1																																																																																				0.446	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55540099	-	T	55540098	7	5	63	1	0	1	1	0	0	0	0	0	13538	1029	36	0	3666	0	RP1	8	55540098	Frame_Shift_Ins	INS	-	TCGA-A4-7288-01A-11D-2136-08	35723285	55540098	90823924	31	4376											
TTC35	9694	hgsc.bcm.edu	37	8	109462083	109462083	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:109462083A>G	ENST00000220853.3	+	2	107	c.72A>G	c.(70-72)gaA>gaG	p.E24E		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	24						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AATGGAGAGAAGAAAACTCAA	0.318																																																0													97	112	107					8																	109462083		2203	4298	6501	SO:0001819	synonymous_variant	9694			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.72A>G	chr8.hg19:g.109462083A>G			Q8WUE1	Silent	SNP	ENST00000220853.3	hg19	CCDS6309.1																																																																																				0.318	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		G	109462083	A	G	109462083	2	3	63	1	0	0	0	0	0	0	0	1	16708	69	3	3		3	TTC35	8	109462083	Silent	SNP	A	TCGA-A4-7288-01A-11D-2136-08	53921985	109462083	36901939	32	4377											
AQP7	364	hgsc.bcm.edu	37	9	33385805	33385805	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr9:33385805G>T	ENST00000537089.1	-	6	627	c.309C>A	c.(307-309)aaC>aaA	p.N103K	AQP7_ENST00000377425.4_Missense_Mutation_p.N138K|AQP7_ENST00000541274.1_Missense_Mutation_p.P64T|AQP7_ENST00000539936.1_Missense_Mutation_p.N195K			O14520	AQP7_HUMAN	aquaporin 7	195					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GCAGTGCTGGGTTGTTCTCCT	0.617																																																0													121	106	111					9																	33385805		2203	4300	6503	SO:0001583	missense	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.309C>A	chr9.hg19:g.33385805G>T	ENSP00000441619:p.Asn103Lys		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.022|0.022	-1.416408|-1.416408	0.01136|0.01136	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503|ENST00000541274	D;D;D;D;D;D;D;D;D|T	0.84660|0.48836	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88|0.8	4.77|4.77	0.809|0.809	0.18725|0.18725	Aquaporin-like (2);|.	0.423208|.	0.29383|.	N|.	0.012320|.	T|T	0.37758|0.37758	0.1015|0.1015	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	B;B;B;B|B	0.25007|0.27286	0.022;0.049;0.022;0.116|0.174	B;B;B;B|B	0.25987|0.26310	0.038;0.063;0.038;0.065|0.068	T|T	0.24584|0.24584	-1.0156|-1.0156	10|9	0.16896|0.38643	T|T	0.51|0.18	-15.7477|-15.7477	7.845|7.845	0.29421|0.29421	0.3724:0.0:0.6276:0.0|0.3724:0.0:0.6276:0.0	.|.	194;195;138;195|64	Q5T5M0;B7Z4U2;Q6P5T0;O14520|B7Z7F6	.;.;.;AQP7_HUMAN|.	K|T	103;194;63;195;138;103;194;195;131|64	ENSP00000441619:N103K;ENSP00000368821:N194K;ENSP00000412868:N63K;ENSP00000297988:N195K;ENSP00000396111:N138K;ENSP00000410138:N103K;ENSP00000368820:N194K;ENSP00000439534:N195K;ENSP00000368817:N131K|ENSP00000438860:P64T	ENSP00000297988:N195K|ENSP00000438860:P64T	N|P	-|-	3|1	2|0	AQP7|AQP7	33375805|33375805	0.000000|0.000000	0.05858|0.05858	0.060000|0.060000	0.19600|0.19600	0.083000|0.083000	0.17756|0.17756	-0.334000|-0.334000	0.07883|0.07883	-0.018000|-0.018000	0.14079|0.14079	0.454000|0.454000	0.30748|0.30748	AAC|CCC		0.617	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		T	33385805	G	T	33385805	3	4	63	1	0	0	0	0	1	0	0	0	831	1252	44	4	451	4	AQP7	9	33385805	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08		33385805	107827626	33	4378											
C10orf71	118461	hgsc.bcm.edu	37	10	50530974	50530974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr10:50530974delG	ENST00000374144.3	+	3	672	c.384delG	c.(382-384)gtgfs	p.V128fs	C10orf71_ENST00000323868.4_Frame_Shift_Del_p.V128fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	128										endometrium(1)	1						GACTGGAGGTGCCAGTTTCCG	0.547																																																0													81	95	91					10																	50530974		1948	4145	6093	SO:0001589	frameshift_variant	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.384delG	chr10.hg19:g.50530974delG	ENSP00000363259:p.Val128fs		A0AVL8	Frame_Shift_Del	DEL	ENST00000374144.3	hg19	CCDS44387.1																																																																																				0.547	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		-	50530974	G	-	50530974	7	5	63	1	0	1	0	1	0	0	0	0	1616	1306	46	0	386	0	C10orf71	10	50530974	Frame_Shift_Del	DEL	G	TCGA-A4-7288-01A-11D-2136-08		50530974	85003773	34	4379											
MUC2	4583	hgsc.bcm.edu	37	11	1075662	1075662	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:1075662C>G	ENST00000441003.2	+	2	115	c.88C>G	c.(88-90)Cga>Gga	p.R30G	MUC2_ENST00000359061.5_Missense_Mutation_p.R30G	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	30					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGGCAGAACCCGAAACCACGG	0.632																																																0													30	35	33					11																	1075662		2128	4223	6351	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.88C>G	chr11.hg19:g.1075662C>G	ENSP00000415183:p.Arg30Gly		Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	C	8.980	0.975205	0.18736	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12672	2.69;2.66	3.78	2.81	0.32909	.	0.537890	0.13893	U	0.355461	T	0.10637	0.0260	L	0.27053	0.805	0.09310	N	1	P	0.40398	0.716	P	0.44477	0.451	T	0.15694	-1.0428	10	0.08837	T	0.75	.	8.7802	0.34787	0.1808:0.6671:0.1521:0.0	.	30	E7EUV1	.	G	30	ENSP00000415183:R30G;ENSP00000351956:R30G	ENSP00000351956:R30G	R	+	1	2	MUC2	1065662	0.009000	0.17119	0.001000	0.08648	0.150000	0.21749	2.439000	0.44846	0.525000	0.28522	0.491000	0.48974	CGA		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1075662	C	G	1075662	3	3	63	1	0	0	0	0	1	0	0	0	9977	644	23	4	94	4	MUC2	11	1075662	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08		1075662	133930854	35	4380											
SLC5A12	159963	hgsc.bcm.edu	37	11	26725402	26725402	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:26725402A>G	ENST00000396005.3	-	5	927	c.618T>C	c.(616-618)caT>caC	p.H206H	SLC5A12_ENST00000280467.6_Silent_p.H206H	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	206					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCCCCCAGCATGAGTTGATC	0.388																																																0													233	218	223					11																	26725402		2203	4299	6502	SO:0001819	synonymous_variant	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.618T>C	chr11.hg19:g.26725402A>G			Q86UC7	Silent	SNP	ENST00000396005.3	hg19	CCDS7860.2																																																																																				0.388	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		G	26725402	A	G	26725402	2	3	63	1	0	0	0	0	0	0	0	1	14670	214	8	3		3	SLC5A12	11	26725402	Silent	SNP	A	TCGA-A4-7288-01A-11D-2136-08	25649740	26725402	108281114	36	4381											
TCP11L1	55346	hgsc.bcm.edu	37	11	33083137	33083137	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:33083137G>C	ENST00000334274.4	+	7	1237	c.837G>C	c.(835-837)aaG>aaC	p.K279N	TCP11L1_ENST00000324357.9_Missense_Mutation_p.K58N|TCP11L1_ENST00000432887.1_Missense_Mutation_p.K279N|TCP11L1_ENST00000531632.2_Missense_Mutation_p.K279N	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	279						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						TGACTCAGAAGTATAAACACG	0.527																																																0													57	57	57					11																	33083137		2202	4298	6500	SO:0001583	missense	55346			BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.837G>C	chr11.hg19:g.33083137G>C	ENSP00000335595:p.Lys279Asn		D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	hg19	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764820	0.31228	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.01	5.01	0.66863	.	0.702810	0.14718	N	0.302495	T	0.08582	0.0213	L	0.29908	0.895	0.09310	N	1	B	0.25007	0.116	B	0.22152	0.038	T	0.27331	-1.0077	10	0.21540	T	0.41	-10.0501	10.8411	0.46715	0.0965:0.0:0.9035:0.0	.	279	Q9NUJ3	T11L1_HUMAN	N	279;279;279;58	ENSP00000335595:K279N;ENSP00000433067:K279N;ENSP00000395070:K279N;ENSP00000316279:K58N	ENSP00000316279:K58N	K	+	3	2	TCP11L1	33039713	0.874000	0.30092	0.537000	0.28052	0.762000	0.43233	1.682000	0.37628	2.320000	0.78422	0.555000	0.69702	AAG		0.527	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		C	33083137	G	C	33083137	3	2	63	1	0	0	0	0	1	0	0	0	15719	1020	36	4	859	4	TCP11L1	11	33083137	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08	6357735	33083137	101923379	37	4382											
NDUFS3	4722	hgsc.bcm.edu	37	11	47605943	47605943	+	Silent	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:47605943G>A	ENST00000263774.4	+	7	787	c.705G>A	c.(703-705)ctG>ctA	p.L235L	FAM180B_ENST00000538490.1_5'Flank|FAM180B_ENST00000356737.2_5'Flank|NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	235					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	AATTTGACCTGAACAGCCCCT	0.557																																					Pancreas(15;551 601 22438 23457 52512)											0													137	141	140					11																	47605943		2201	4298	6499	SO:0001819	synonymous_variant	4722			AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7710	protein-coding gene	gene with protein product	"complex I 30kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"	603846	"NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.705G>A	chr11.hg19:g.47605943G>A			B2R9J1|B4DFM8|Q9UNQ8	Silent	SNP	ENST00000263774.4	hg19	CCDS7941.1																																																																																				0.557	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		A	47605943	G	A	47605943	2	1	63	1	0	0	0	0	0	0	0	1	10295	1277	45	2		2	NDUFS3	11	47605943	Silent	SNP	G	TCGA-A4-7288-01A-11D-2136-08	14522806	47605943	87400573	38	4383											
ATL3	25923	hgsc.bcm.edu	37	11	63403801	63403802	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:63403801_63403802insA	ENST00000398868.3	-	9	1131_1132	c.855_856insT	c.(853-858)attgctfs	p.A286fs	ATL3_ENST00000332645.4_Frame_Shift_Ins_p.A313fs|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Frame_Shift_Ins_p.A268fs	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	286	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AATTCACCAGCAATATCTGTTC	0.416											OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	25923				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.856dupT	chr11.hg19:g.63403803_63403803dupA	ENSP00000381844:p.Ala286fs	1068	Q8N7W5|Q9H8Q5|Q9UFL1	Frame_Shift_Ins	INS	ENST00000398868.3	hg19	CCDS41663.1																																																																																				0.416	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459		A	63403802	-	A	63403801	7	5	63	1	0	1	1	0	0	0	0	0	1108	710	25	0	789	0	ATL3	11	63403801	Frame_Shift_Ins	INS	-	TCGA-A4-7288-01A-11D-2136-08	15797858	63403801	71602715	39	4384											
ATP5L	10632	hgsc.bcm.edu	37	11	118272388	118272388	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:118272388A>G	ENST00000300688.3	+	1	520	c.8A>G	c.(7-9)cAa>cGa	p.Q3R	ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Missense_Mutation_p.Q3R|RP11-770J1.5_ENST00000534438.1_5'UTR|RP11-770J1.5_ENST00000531742.1_5'Flank	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	3					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		ACCATGGCCCAATTTGTCCGT	0.667																																																0													45	40	42					11																	118272388		2200	4296	6496	SO:0001583	missense	10632			AF092124	CCDS8397.1	11q23.3	2012-10-12	2010-06-11		ENSG00000167283	ENSG00000167283		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	14247	protein-coding gene	gene with protein product			"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G"			11230166, 11042152	Standard	NR_033759		Approved	ATP5JG	uc001psx.3	O75964		ENST00000300688.3:c.8A>G	chr11.hg19:g.118272388A>G	ENSP00000300688:p.Gln3Arg		A8K0K3|Q96BV6|Q9UBZ7	Missense_Mutation	SNP	ENST00000300688.3	hg19	CCDS8397.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.880213	0.51801	.	.	ENSG00000167283	ENST00000300688;ENST00000524422	.	.	.	6.17	5.05	0.67936	.	0.166760	0.56097	D	0.000039	T	0.56804	0.2010	L	0.61387	1.9	0.39789	D	0.972403	B	0.06786	0.001	B	0.09377	0.004	T	0.54403	-0.8299	9	0.36615	T	0.2	-2.3772	9.3868	0.38347	0.9198:0.0:0.0802:0.0	.	3	O75964	ATP5L_HUMAN	R	3	.	ENSP00000300688:Q3R	Q	+	2	0	ATP5L	117777598	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	3.233000	0.51311	1.142000	0.42291	0.533000	0.62120	CAA		0.667	ATP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389220.1	NM_006476		G	118272388	A	G	118272388	3	3	63	1	0	0	0	0	1	0	0	0	1160	130	5	3	10	3	ATP5L	11	118272388	Missense_Mutation	SNP	A	TCGA-A4-7288-01A-11D-2136-08	54868587	118272388	16734128	40	4385											
TMEM45B	120224	hgsc.bcm.edu	37	11	129724698	129724698	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:129724698A>G	ENST00000524567.1	+	3	653	c.372A>G	c.(370-372)gcA>gcG	p.A124A	TMEM45B_ENST00000281441.3_Silent_p.A124A			Q96B21	TM45B_HUMAN	transmembrane protein 45B	124						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		TGGCTGTGGCAGTATTCATGG	0.453																																																0													138	125	129					11																	129724698		2201	4297	6498	SO:0001819	synonymous_variant	120224			AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.372A>G	chr11.hg19:g.129724698A>G			A8K2L8	Silent	SNP	ENST00000524567.1	hg19	CCDS8482.1																																																																																				0.453	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		G	129724698	A	G	129724698	2	3	63	1	0	0	0	0	0	0	0	1	16175	175	7	3		3	TMEM45B	11	129724698	Silent	SNP	A	TCGA-A4-7288-01A-11D-2136-08	11452310	129724698	5281818	41	4386											
IFFO1	25900	hgsc.bcm.edu	37	12	6649694	6649694	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr12:6649694A>G	ENST00000396840.2	-	9	1676	c.1635T>C	c.(1633-1635)gcT>gcC	p.A545A	IFFO1_ENST00000465801.1_Silent_p.A241A|IFFO1_ENST00000436152.2_Silent_p.A242A|IFFO1_ENST00000336604.4_Silent_p.A548A|RP5-940J5.9_ENST00000602946.1_RNA|RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000356896.4_Silent_p.A549A			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	545						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CGGAGTCCTCAGCCTCGCTTG	0.617																																																0													53	54	54					12																	6649694		2203	4300	6503	SO:0001819	synonymous_variant	25900			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1635T>C	chr12.hg19:g.6649694A>G			Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	hg19		.	.	.	.	.	.	.	.	.	.	A	12.53	1.964511	0.34659	.	.	ENSG00000010295	ENST00000416019;ENST00000423501	.	.	.	4.84	1.14	0.20703	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07966	-1.0745	6	.	.	.	0.8566	4.8721	0.13639	0.4992:0.2689:0.2318:0.0	.	240	Q6P593	.	P	279;185	.	.	L	-	2	0	IFFO1	6519955	0.938000	0.31826	1.000000	0.80357	0.982000	0.71751	-0.065000	0.11617	0.887000	0.36136	0.459000	0.35465	CTG		0.617	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		G	6649694	A	G	6649694	2	3	63	1	0	0	0	0	0	0	0	1	7512	175	7	3		3	IFFO1	12	6649694	Silent	SNP	A	TCGA-A4-7288-01A-11D-2136-08		6649694	127202201	42	4387											
TAS2R50	259296	hgsc.bcm.edu	37	12	11139402	11139402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr12:11139402C>A	ENST00000506868.1	-	1	109	c.58G>T	c.(58-60)Gga>Tga	p.G20*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	20					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.G20*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GCAAAGTTTCCGAGAACAAAT	0.348																																																1	Substitution - Nonsense(1)	lung(1)											45	52	50					12																	11139402		2201	4297	6498	SO:0001587	stop_gained	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.58G>T	chr12.hg19:g.11139402C>A	ENSP00000424040:p.Gly20*		P59545|Q2M255|Q645Y0	Nonsense_Mutation	SNP	ENST00000506868.1	hg19	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735938	0.49045	.	.	ENSG00000212126	ENST00000506868	.	.	.	2.19	1.23	0.21249	.	0.204251	0.31199	U	0.008071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.9195	0.24380	0.0:0.8404:0.0:0.1596	.	.	.	.	X	20	.	ENSP00000424040:G20X	G	-	1	0	TAS2R50	11030669	0.162000	0.22906	0.008000	0.14137	0.132000	0.20833	1.423000	0.34837	0.218000	0.20820	0.313000	0.20887	GGA		0.348	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		A	11139402	C	A	11139402	4	1	63	1	0	0	0	0	0	1	0	0	15589	661	23	4	845	4	TAS2R50	12	11139402	Nonsense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08	4489708	11139402	122712493	43	4388											
ARID2	196528	hgsc.bcm.edu	37	12	46285793	46285793	+	Splice_Site	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr12:46285793G>A	ENST00000334344.6	+	18	5233		c.e18-1		ARID2_ENST00000457135.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCTCAAAAAGGATAAGCACT	0.388			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													117	109	112					12																	46285793		2203	4300	6503	SO:0001630	splice_region_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5062-1G>A	chr12.hg19:g.46285793G>A			Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Splice_Site	SNP	ENST00000334344.6	hg19	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730640	0.48939	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6022	0.91253	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID2	44572060	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	9.070000	0.93974	2.690000	0.91761	0.655000	0.94253	.		0.388	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	Intron	A	46285793	G	A	46285793	5	1	63	1	0	0	0	0	0	0	1	0	915	1014	35	2	5131	2	ARID2	12	46285793	Splice_Site	SNP	G	TCGA-A4-7288-01A-11D-2136-08	35146391	46285793	87566102	44	4389											
ESPL1	9700	hgsc.bcm.edu	37	12	53685605	53685605	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr12:53685605A>G	ENST00000257934.4	+	26	5743	c.5652A>G	c.(5650-5652)acA>acG	p.T1884T	ESPL1_ENST00000552462.1_Silent_p.T1884T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1884					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGGGCCTGACAGTACCAAGCA	0.587																																					Colon(53;1069 1201 2587 5382)											0													130	115	120					12																	53685605		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5652A>G	chr12.hg19:g.53685605A>G				Silent	SNP	ENST00000257934.4	hg19	CCDS8852.1																																																																																				0.587	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		G	53685605	A	G	53685605	2	3	63	1	0	0	0	0	0	0	0	1	5255	175	7	3		3	ESPL1	12	53685605	Silent	SNP	A	TCGA-A4-7288-01A-11D-2136-08	7399812	53685605	80166290	45	4390											
HNRNPC	3183	hgsc.bcm.edu	37	14	21679712	21679713	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:21679712_21679713delAT	ENST00000320084.7	-	7	928_929	c.689_690delAT	c.(688-690)aatfs	p.N230fs	HNRNPC_ENST00000554969.1_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000556897.1_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000553300.1_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000553753.1_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000557201.1_Frame_Shift_Del_p.N230fs|HNRNPC_ENST00000420743.2_Frame_Shift_Del_p.N230fs|HNRNPC_ENST00000554455.1_Frame_Shift_Del_p.N230fs|HNRNPC_ENST00000555914.1_Frame_Shift_Del_p.N216fs|HNRNPC_ENST00000336053.6_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000555883.1_Frame_Shift_Del_p.N174fs|HNRNPC_ENST00000449098.1_Frame_Shift_Del_p.N217fs|HNRNPC_ENST00000555309.1_Frame_Shift_Del_p.N229fs|HNRNPC_ENST00000556628.1_Frame_Shift_Del_p.N150fs|HNRNPC_ENST00000430246.2_Frame_Shift_Del_p.N217fs	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	230	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CTGACTTATCATTCTTCATCTC	0.505																																					NSCLC(108;607 2244 12726 38757)											0																																										SO:0001589	frameshift_variant	3183				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"RNA binding motif (RRM) containing"	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.689_690delAT	chr14.hg19:g.21679712_21679713delAT	ENSP00000319690:p.Asn230fs		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Frame_Shift_Del	DEL	ENST00000320084.7	hg19	CCDS41915.1																																																																																				0.505	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			-	21679713	AT	-	21679712	7	5	63	1	0	1	0	1	0	0	0	0	7264	214	8	0	238	0	HNRNPC	14	21679712	Frame_Shift_Del	DEL	AT	TCGA-A4-7288-01A-11D-2136-08		21679712	85669828	46	4391											
RAB2B	84932	hgsc.bcm.edu	37	14	21931921	21931921	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:21931921A>G	ENST00000397762.1	-	6	468	c.368T>C	c.(367-369)cTa>cCa	p.L123P	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	123					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		GCGGGACTCTAGGTCACTGCA	0.408																																					Melanoma(131;1007 1750 28652 34486 42672)											0													86	80	82					14																	21931921		2203	4300	6503	SO:0001583	missense	84932			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"RAB, member RAS oncogene"	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.368T>C	chr14.hg19:g.21931921A>G	ENSP00000380869:p.Leu123Pro		B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	hg19	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416717	0.83449	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	D	0.85013	-1.93	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.52532	D	0.000080	D	0.96137	0.8741	H	0.99712	4.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.99;0.998	D	0.97978	1.0347	10	0.87932	D	0	.	14.8111	0.69996	1.0:0.0:0.0:0.0	.	123;77;58	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	P	123	ENSP00000380869:L123P	ENSP00000302005:L123P	L	-	2	0	RAB2B	21001761	1.000000	0.71417	0.984000	0.44739	0.958000	0.62258	6.854000	0.75440	2.145000	0.66743	0.533000	0.62120	CTA		0.408	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4			G	21931921	A	G	21931921	3	3	63	1	0	0	0	0	1	0	0	0	12924	420	15	3	294	3	RAB2B	14	21931921	Missense_Mutation	SNP	A	TCGA-A4-7288-01A-11D-2136-08	252209	21931921	85417619	47	4392											
PCK2	5106	hgsc.bcm.edu	37	14	24568928	24568928	+	Splice_Site	SNP	A	A	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:24568928A>C	ENST00000216780.4	+	6	1282	c.1014A>C	c.(1012-1014)gaA>gaC	p.E338D	PCK2_ENST00000561286.1_Splice_Site_p.E204D|PCK2_ENST00000559250.1_Splice_Site_p.E350D|PCK2_ENST00000396973.4_Splice_Site_p.E338D|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Splice_Site_p.E204D|PCK2_ENST00000545054.2_Splice_Site_p.E204D	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	338					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTGACAGTGAAGGTGAGGGAC	0.517																																																0													209	179	189					14																	24568928		2203	4300	6503	SO:0001630	splice_region_variant	5106			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1015+1A>C	chr14.hg19:g.24568928A>C			O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	hg19	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	A	8.481	0.859731	0.17178	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.06849	3.25;3.25;3.25	5.5	-8.34	0.00988	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.280145	0.45606	N	0.000341	T	0.01695	0.0054	N	0.02120	-0.675	0.43088	D	0.99475	B;B;B;B	0.09022	0.001;0.0;0.002;0.0	B;B;B;B	0.15052	0.012;0.012;0.007;0.006	T	0.43245	-0.9403	10	0.02654	T	1	-4.464	9.0824	0.36561	0.2559:0.5071:0.0:0.237	.	204;338;338;338	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	D	338;338;204	ENSP00000216780:E338D;ENSP00000380171:E338D;ENSP00000441826:E204D	ENSP00000216780:E338D	E	+	3	2	PCK2	23638768	0.996000	0.38824	0.953000	0.39169	0.948000	0.59901	0.536000	0.23129	-0.926000	0.03770	0.459000	0.35465	GAA		0.517	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073	Missense_Mutation	C	24568928	A	C	24568928	5	2	63	1	0	0	0	0	0	0	1	0	11584	86	3	5	1036	5	PCK2	14	24568928	Splice_Site	SNP	A	TCGA-A4-7288-01A-11D-2136-08	2637007	24568928	82780612	48	4393											
NID2	22795	hgsc.bcm.edu	37	14	52494036	52494036	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:52494036C>T	ENST00000216286.5	-	12	2556	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	853	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGCCATCCTCACAGGGGTTG	0.572																																																0													37	36	36					14																	52494036		2203	4300	6503	SO:0001583	missense	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2557G>A	chr14.hg19:g.52494036C>T	ENSP00000216286:p.Glu853Lys		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	hg19	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.692957	0.48202	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000395707	D	0.87334	-2.24	5.76	4.86	0.63082	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.479683	0.23171	N	0.051140	T	0.81894	0.4919	L	0.42008	1.315	0.80722	D	1	B;P;B	0.35411	0.04;0.5;0.417	B;B;B	0.35278	0.017;0.09;0.199	T	0.77705	-0.2488	10	0.11182	T	0.66	.	15.3665	0.74526	0.0:0.8547:0.1453:0.0	.	447;855;853	E7EPP3;Q5CZI2;Q14112	.;.;NID2_HUMAN	K	853;447;855	ENSP00000216286:E853K	ENSP00000216286:E853K	E	-	1	0	NID2	51563786	0.975000	0.34042	0.998000	0.56505	0.694000	0.40290	1.623000	0.37008	1.397000	0.46682	0.563000	0.77884	GAG		0.572	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			T	52494036	C	T	52494036	3	4	63	1	0	0	0	0	1	0	0	0	10417	835	29	2	1614	2	NID2	14	52494036	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08	27925108	52494036	54855504	49	4394											
PPM1A	5494	hgsc.bcm.edu	37	14	60750192	60750192	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:60750192A>T	ENST00000395076.4	+	2	1201	c.771A>T	c.(769-771)agA>agT	p.R257S	PPM1A_ENST00000325642.3_Missense_Mutation_p.R330S|PPM1A_ENST00000529574.1_Missense_Mutation_p.R257S|PPM1A_ENST00000325658.3_Missense_Mutation_p.R257S	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	257					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TAAGATCCAGACTTGAAGTCA	0.348																																																0													153	150	151					14																	60750192		2203	4300	6503	SO:0001583	missense	5494			S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9275	protein-coding gene	gene with protein product	"phosphatase 2C alpha", "protein phosphatase 2C, alpha isoform"	606108	"protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.771A>T	chr14.hg19:g.60750192A>T	ENSP00000378514:p.Arg257Ser		B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	hg19	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.391550	0.62066	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.69	0.8	0.18672	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	M	0.80982	2.52	0.80722	D	1	D;D;D	0.71674	0.985;0.998;0.985	D;D;D	0.70716	0.909;0.97;0.909	T	0.14090	-1.0485	10	0.66056	D	0.02	-4.9401	9.4876	0.38940	0.6003:0.0:0.3997:0.0	.	257;257;257	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	S	330;257;257;257	ENSP00000327255:R330S;ENSP00000432966:R257S;ENSP00000378514:R257S;ENSP00000314850:R257S	ENSP00000327255:R330S	R	+	3	2	PPM1A	59819945	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.406000	0.21032	0.109000	0.17891	0.477000	0.44152	AGA		0.348	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		T	60750192	A	T	60750192	3	4	63	1	0	0	0	0	1	0	0	0	12340	272	10	5	996	5	PPM1A	14	60750192	Missense_Mutation	SNP	A	TCGA-A4-7288-01A-11D-2136-08	8256156	60750192	46599348	50	4395											
KIAA1409	57578	hgsc.bcm.edu	37	14	94079328	94079328	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:94079328G>T	ENST00000393151.2	+	27	3940	c.3940G>T	c.(3940-3942)Gtc>Ttc	p.V1314F	UNC79_ENST00000555664.1_Missense_Mutation_p.V1314F|UNC79_ENST00000553484.1_Missense_Mutation_p.V1336F|UNC79_ENST00000256339.4_Missense_Mutation_p.V1137F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1314					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACACCTGTACGTCTTACTCGG	0.483																																																0													137	114	122					14																	94079328		2203	4300	6503	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3940G>T	chr14.hg19:g.94079328G>T	ENSP00000376858:p.Val1314Phe		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	hg19		.	.	.	.	.	.	.	.	.	.	G	22.6	4.309029	0.81247	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20332	2.12;2.09;2.08;2.12	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	N	0.25647	0.755	0.48135	D	0.99959	D	0.76494	0.999	D	0.81914	0.995	T	0.16188	-1.0411	10	0.72032	D	0.01	-20.0599	19.5316	0.95231	0.0:0.0:1.0:0.0	.	1336	C9JQL1	.	F	1137;1314;1336;1314;1336	ENSP00000256339:V1137F;ENSP00000450868:V1314F;ENSP00000451360:V1336F;ENSP00000376858:V1314F	ENSP00000256339:V1137F	V	+	1	0	KIAA1409	93149081	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	7.818000	0.86416	2.617000	0.88574	0.650000	0.86243	GTC		0.483	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94079328	G	T	94079328	3	4	63	1	0	0	0	0	1	0	0	0	8232	1145	40	4	3503	4	KIAA1409	14	94079328	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08	33329136	94079328	13270212	51	4396											
UBR1	197131	hgsc.bcm.edu	37	15	43299483	43299483	+	Splice_Site	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr15:43299483C>A	ENST00000290650.4	-	30	3288		c.e30-1		UBR1_ENST00000568782.1_Splice_Site|UBR1_ENST00000382177.2_Splice_Site	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1						cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGCTGGGGTGCTACCAAAAGA	0.403																																																0													48	44	45					15																	43299483		2203	4299	6502	SO:0001630	splice_region_variant	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3210-1G>T	chr15.hg19:g.43299483C>A			O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Splice_Site	SNP	ENST00000290650.4	hg19	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550046	0.65311	.	.	ENSG00000159459	ENST00000290650	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1988	0.89831	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR1	41086775	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.935000	0.56560	2.534000	0.85438	0.655000	0.94253	.		0.403	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	Intron	A	43299483	C	A	43299483	5	1	63	1	0	0	0	0	0	0	1	0	16906	811	28	4	2112	4	UBR1	15	43299483	Splice_Site	SNP	C	TCGA-A4-7288-01A-11D-2136-08		43299483	59231909	52	4397											
PARP6	56965	hgsc.bcm.edu	37	15	72556908	72556908	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr15:72556908A>G	ENST00000569795.1	-	8	1070	c.383T>C	c.(382-384)cTt>cCt	p.L128P	PARP6_ENST00000260376.7_Missense_Mutation_p.L128P|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.L128P			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	128							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TTTCAACTGAAGACCCAGCCC	0.428																																																0													122	115	117					15																	72556908		1851	4081	5932	SO:0001583	missense	56965			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.383T>C	chr15.hg19:g.72556908A>G	ENSP00000456348:p.Leu128Pro		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	hg19	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259245	0.80246	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.5	5.5	0.81552	.	0.061156	0.64402	D	0.000002	T	0.40272	0.1110	N	0.14661	0.345	0.80722	D	1	P;P	0.47409	0.694;0.895	B;B	0.44278	0.346;0.445	T	0.30416	-0.9979	9	0.32370	T	0.25	-0.6581	14.7832	0.69781	1.0:0.0:0.0:0.0	.	128;128	Q0VDG0;Q2NL67	.;PARP6_HUMAN	P	128	.	ENSP00000260376:L128P	L	-	2	0	PARP6	70343962	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.265000	0.95647	2.087000	0.62958	0.460000	0.39030	CTT		0.428	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		G	72556908	A	G	72556908	3	3	63	1	0	0	0	0	1	0	0	0	11466	72	3	3	1577	3	PARP6	15	72556908	Missense_Mutation	SNP	A	TCGA-A4-7288-01A-11D-2136-08	29257425	72556908	29974484	53	4398											
IDH2	3418	hgsc.bcm.edu	37	15	90634783	90634783	+	Splice_Site	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr15:90634783A>G	ENST00000330062.3	-	2	321		c.e2+1		IDH2_ENST00000539790.1_Intron|IDH2_ENST00000559482.1_Splice_Site|IDH2_ENST00000540499.2_Splice_Site	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial						2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			AGGGGGCACTACCTTCTCCTT	0.577			M		GBM																																		Dom	yes		15	15q26.1	3418	"socitrate dehydrogenase 2 (NADP+), mitochondrial "		M	0													169	135	146					15																	90634783		2200	4298	6498	SO:0001630	splice_region_variant	3418				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.207+1T>C	chr15.hg19:g.90634783A>G			B2R6L6|B4DFL2|Q96GT3	Splice_Site	SNP	ENST00000330062.3	hg19	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066137	0.55539	.	.	ENSG00000182054	ENST00000330062;ENST00000540499	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0239	0.58804	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IDH2	88435787	1.000000	0.71417	0.925000	0.36789	0.501000	0.33797	9.290000	0.96065	1.965000	0.57142	0.459000	0.35465	.		0.577	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1		Intron	G	90634783	A	G	90634783	5	3	63	1	0	0	0	0	0	0	1	0	7497	405	14	3	1189	3	IDH2	15	90634783	Splice_Site	SNP	A	TCGA-A4-7288-01A-11D-2136-08	18077875	90634783	11896609	54	4399											
RAB40C	57799	hgsc.bcm.edu	37	16	677608	677608	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:677608T>C	ENST00000248139.3	+	6	1035	c.832T>C	c.(832-834)Tgc>Cgc	p.C278R	RAB40C_ENST00000539661.1_Missense_Mutation_p.C278R|RAB40C_ENST00000535977.1_Missense_Mutation_p.C278R|RAB40C_ENST00000538492.1_Missense_Mutation_p.C278R	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	278					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GCGGAGTAACTGCAAGATCTC	0.697																																					Melanoma(123;1631 1690 28262 44104 44957)											0													47	51	49					16																	677608		2201	4300	6501	SO:0001583	missense	57799			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.832T>C	chr16.hg19:g.677608T>C	ENSP00000248139:p.Cys278Arg		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	hg19	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889349	0.72524	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.87578	0.998;0.814	D	0.83701	0.0182	10	0.87932	D	0	.	13.6194	0.62128	0.0:0.0:0.0:1.0	.	278;259	Q96S21;Q5PXE8	RB40C_HUMAN;.	R	278	ENSP00000438492:C278R;ENSP00000445050:C278R;ENSP00000438382:C278R;ENSP00000248139:C278R	ENSP00000248139:C278R	C	+	1	0	RAB40C	617609	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.918000	0.87506	1.808000	0.52836	0.459000	0.35465	TGC		0.697	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		C	677608	T	C	677608	3	2	63	1	0	0	0	0	1	0	0	0	12948	1580	55	3	854	3	RAB40C	16	677608	Missense_Mutation	SNP	T	TCGA-A4-7288-01A-11D-2136-08		677608	89677145	55	4400											
HS3ST2	9956	hgsc.bcm.edu	37	16	22926750	22926750	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:22926750G>A	ENST00000261374.3	+	2	1405	c.971G>A	c.(970-972)cGa>cAa	p.R324Q		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	324					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CTCCTGCCTCGATGCTTGGGC	0.403																																																0													135	148	143					16																	22926750		2197	4300	6497	SO:0001583	missense	9956			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.971G>A	chr16.hg19:g.22926750G>A	ENSP00000261374:p.Arg324Gln		Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	hg19	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382090	0.82792	.	.	ENSG00000122254	ENST00000261374	D	0.83755	-1.76	5.11	5.11	0.69529	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.89491	0.3757	10	0.44086	T	0.13	.	11.0723	0.48010	0.0843:0.0:0.9157:0.0	.	324	Q9Y278	HS3S2_HUMAN	Q	324	ENSP00000261374:R324Q	ENSP00000261374:R324Q	R	+	2	0	HS3ST2	22834251	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.872000	0.75536	2.375000	0.81037	0.561000	0.74099	CGA		0.403	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		A	22926750	G	A	22926750	3	1	63	1	0	0	0	0	1	0	0	0	7366	1058	37	1	977	1	HS3ST2	16	22926750	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08	22249142	22926750	67428003	56	4401											
ABCC11	85320	hgsc.bcm.edu	37	16	48249161	48249161	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:48249161A>G	ENST00000394747.1	-	7	1395	c.1046T>C	c.(1045-1047)aTt>aCt	p.I349T	ABCC11_ENST00000537808.1_Missense_Mutation_p.I349T|ABCC11_ENST00000394748.1_Missense_Mutation_p.I349T|ABCC11_ENST00000356608.2_Missense_Mutation_p.I349T|ABCC11_ENST00000353782.5_Missense_Mutation_p.I349T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	349	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AATCAGCTTAATGCAAGTGAG	0.453																																																0													148	144	145					16																	48249161		2201	4300	6501	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1046T>C	chr16.hg19:g.48249161A>G	ENSP00000378230:p.Ile349Thr		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	hg19	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099866	0.76983	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.23	5.23	0.72850	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.125360	0.53938	D	0.000060	D	0.95642	0.8583	M	0.80982	2.52	0.48632	D	0.999682	D;D	0.62365	0.979;0.991	P;D	0.72625	0.801;0.978	D	0.96028	0.9014	10	0.87932	D	0	-4.6607	12.6309	0.56657	1.0:0.0:0.0:0.0	.	349;349	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	349	ENSP00000311326:I349T;ENSP00000349017:I349T;ENSP00000378231:I349T;ENSP00000378230:I349T;ENSP00000438530:I349T	ENSP00000311326:I349T	I	-	2	0	ABCC11	46806662	1.000000	0.71417	0.599000	0.28851	0.926000	0.56050	6.131000	0.71670	1.978000	0.57642	0.528000	0.53228	ATT		0.453	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		G	48249161	A	G	48249161	3	3	63	1	0	0	0	0	1	0	0	0	51	101	4	3	3194	3	ABCC11	16	48249161	Missense_Mutation	SNP	A	TCGA-A4-7288-01A-11D-2136-08	25322411	48249161	42105592	57	4402											
INPP5K	51763	hgsc.bcm.edu	37	17	1400005	1400005	+	Silent	SNP	G	G	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:1400005G>C	ENST00000421807.2	-	9	1444	c.1056C>G	c.(1054-1056)acC>acG	p.T352T	INPP5K_ENST00000542125.1_Silent_p.T256T|INPP5K_ENST00000406424.4_Silent_p.T276T|INPP5K_ENST00000397335.3_Silent_p.T260T|INPP5K_ENST00000320345.6_Silent_p.T276T	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	352	Required for ruffle localization.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						GGAAGTCCGAGGTTGAAGAGT	0.567																																																0													141	113	123					17																	1400005		2203	4300	6503	SO:0001819	synonymous_variant	51763				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"skeletal muscle and kidney enriched inositol phosphatase"	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.1056C>G	chr17.hg19:g.1400005G>C			B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	hg19	CCDS11004.1																																																																																				0.567	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			C	1400005	G	C	1400005	2	2	63	1	0	0	0	0	0	0	0	1	7762	987	35	4		4	INPP5K	17	1400005	Silent	SNP	G	TCGA-A4-7288-01A-11D-2136-08		1400005	79795205	58	4403											
LHX1	3975	hgsc.bcm.edu	37	17	35297717	35297717	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:35297717G>T	ENST00000254457.5	+	2	1712	c.301G>T	c.(301-303)Ggc>Tgc	p.G101C	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	101	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCTCTCCACTGGCGAGGAACT	0.517																																																0													89	75	79					17																	35297717		2203	4300	6503	SO:0001583	missense	3975			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.301G>T	chr17.hg19:g.35297717G>T	ENSP00000254457:p.Gly101Cys		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	hg19	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719232	0.89205	.	.	ENSG00000132130	ENST00000254457	D	0.88664	-2.41	4.05	4.05	0.47172	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.96312	0.8797	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97620	1.0135	10	0.87932	D	0	.	17.5157	0.87772	0.0:0.0:1.0:0.0	.	101;101	B4DPA6;P48742	.;LHX1_HUMAN	C	101	ENSP00000254457:G101C	ENSP00000254457:G101C	G	+	1	0	LHX1	32371830	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.573000	0.98181	2.553000	0.86117	0.561000	0.74099	GGC		0.517	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		T	35297717	G	T	35297717	3	4	63	1	0	0	0	0	1	0	0	0	8772	1348	47	4	307	4	LHX1	17	35297717	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08	33897712	35297717	45897493	59	4404											
ACLY	47	hgsc.bcm.edu	37	17	40048661	40048661	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:40048661C>A	ENST00000352035.2	-	16	1771	c.1641G>T	c.(1639-1641)gaG>gaT	p.E547D	ACLY_ENST00000353196.1_Missense_Mutation_p.E537D|ACLY_ENST00000537919.1_Missense_Mutation_p.E276D|ACLY_ENST00000590151.1_Missense_Mutation_p.E547D|ACLY_ENST00000393896.2_Missense_Mutation_p.E537D	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	547					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GGATCAGGATCTCTTTGTGCC	0.493																																					Colon(64;807 1396 15971 30971)											0													128	113	118					17																	40048661		2203	4300	6503	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1641G>T	chr17.hg19:g.40048661C>A	ENSP00000253792:p.Glu547Asp		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	hg19	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447728	0.84101	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.89939	-1.61;-1.62;-2.59;-1.62	5.49	4.52	0.55395	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95373	0.8498	H	0.95328	3.655	0.80722	D	1	P;D;D;D;P	0.57899	0.92;0.981;0.981;0.973;0.92	D;P;P;D;D	0.66084	0.922;0.805;0.805;0.941;0.922	D	0.95675	0.8727	10	0.72032	D	0.01	.	10.7053	0.45952	0.0:0.8307:0.0:0.1693	.	276;591;601;537;547	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	D	547;601;537;276;537	ENSP00000253792:E547D;ENSP00000345398:E537D;ENSP00000445349:E276D;ENSP00000377474:E537D	ENSP00000253792:E547D	E	-	3	2	ACLY	37302187	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.474000	0.35398	1.430000	0.47334	0.561000	0.74099	GAG		0.493	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		A	40048661	C	A	40048661	3	1	63	1	0	0	0	0	1	0	0	0	143	912	32	4	1720	4	ACLY	17	40048661	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08	4750944	40048661	41146549	60	4405											
HDAC5	10014	hgsc.bcm.edu	37	17	42158172	42158172	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:42158172C>A	ENST00000393622.2	-	21	3017	c.2686G>T	c.(2686-2688)Gac>Tac	p.D896Y	HDAC5_ENST00000586802.1_Missense_Mutation_p.D896Y|HDAC5_ENST00000336057.5_Missense_Mutation_p.D811Y|HDAC5_ENST00000225983.6_Missense_Mutation_p.D897Y	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	896	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TTCCCGTTGTCATAGCGATGC	0.562																																																0													117	103	108					17																	42158172		2203	4300	6503	SO:0001583	missense	10014			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2686G>T	chr17.hg19:g.42158172C>A	ENSP00000377244:p.Asp896Tyr		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	hg19	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376869	0.82682	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.55234	0.53;0.53;0.64	4.63	4.63	0.57726	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.80138	0.4568	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.989;1.0	D	0.86300	0.1679	10	0.87932	D	0	-22.7715	16.4039	0.83651	0.0:1.0:0.0:0.0	.	811;897;896	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	Y	897;896;811	ENSP00000225983:D897Y;ENSP00000377244:D896Y;ENSP00000337290:D811Y	ENSP00000225983:D897Y	D	-	1	0	HDAC5	39513698	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.630000	0.83225	2.411000	0.81874	0.563000	0.77884	GAC		0.562	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		A	42158172	C	A	42158172	3	1	63	1	0	0	0	0	1	0	0	0	7012	826	29	4	710	4	HDAC5	17	42158172	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08	2109511	42158172	39037038	61	4406											
IMP5	162540	hgsc.bcm.edu	37	17	43922606	43922611	+	In_Frame_Del	DEL	GGCCAA	GGCCAA	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	GGCCAA	GGCCAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:43922606_43922611delGGCCAA	ENST00000329196.5	+	1	351_356	c.334_339delGGCCAA	c.(334-339)ggccaadel	p.GQ112del	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	112	PA.					endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GCTGGCTCAGGGCCAAGGTGCCCACG	0.68																																																0																																										SO:0001651	inframe_deletion	162540				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.334_339delGGCCAA	chr17.hg19:g.43922606_43922611delGGCCAA	ENSP00000332488:p.Gly112_Gln113del		Q8TC67|Q8WVZ6	In_Frame_Del	DEL	ENST00000329196.5	hg19	CCDS32673.1																																																																																				0.68	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		-	43922611	GGCCAA	-	43922606	7	5	63	1	0	1	0	1	0	0	0	0	7723	1232	43	0	336	0	IMP5	17	43922606	In_Frame_Del	DEL	GGCCAA	TCGA-A4-7288-01A-11D-2136-08	1764434	43922606	37272604	62	4407											
AFG3L2	10939	hgsc.bcm.edu	37	18	12358734	12358734	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr18:12358734T>C	ENST00000269143.3	-	8	1192	c.961A>G	c.(961-963)Atg>Gtg	p.M321V		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	321					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACAAATTCCATGATCTCTAGC	0.383																																																0													86	78	80					18																	12358734		2203	4300	6503	SO:0001583	missense	10939			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.961A>G	chr18.hg19:g.12358734T>C	ENSP00000269143:p.Met321Val		Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	hg19	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163727	0.78226	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.39787	1.06	5.76	5.76	0.90799	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.42744	1.35	0.80722	D	1	P	0.45986	0.87	P	0.47251	0.542	T	0.45469	-0.9259	10	0.66056	D	0.02	.	16.0735	0.80951	0.0:0.0:0.0:1.0	.	321	Q9Y4W6	AFG32_HUMAN	V	321;336	ENSP00000269143:M321V	ENSP00000269143:M321V	M	-	1	0	AFG3L2	12348734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.912000	0.69948	2.195000	0.70347	0.533000	0.62120	ATG		0.383	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		C	12358734	T	C	12358734	3	2	63	1	0	0	0	0	1	0	0	0	360	1464	51	3	1472	3	AFG3L2	18	12358734	Missense_Mutation	SNP	T	TCGA-A4-7288-01A-11D-2136-08		12358734	65718514	63	4408											
APC2	10297	hgsc.bcm.edu	37	19	1468067	1468067	+	Silent	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:1468067C>T	ENST00000535453.1	+	14	6480	c.4767C>T	c.(4765-4767)ccC>ccT	p.P1589P	APC2_ENST00000233607.2_Silent_p.P1589P|APC2_ENST00000238483.4_Silent_p.P1315P|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGCGAGCCCGAGCCCTCGG	0.766																																																0													4	4	4					19																	1468067		1704	3627	5331	SO:0001819	synonymous_variant	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.4767C>T	chr19.hg19:g.1468067C>T			C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	hg19	CCDS12068.1																																																																																				0.766	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		T	1468067	C	T	1468067	2	4	63	1	0	0	0	0	0	0	0	1	764	639	23	1		1	APC2	19	1468067	Silent	SNP	C	TCGA-A4-7288-01A-11D-2136-08		1468067	57660916	64	4409											
SF4	57794	hgsc.bcm.edu	37	19	19420931	19420931	+	Silent	SNP	C	C	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:19420931C>T	ENST00000247001.5	-	3	632	c.285G>A	c.(283-285)aaG>aaA	p.K95K	SUGP1_ENST00000334782.5_Silent_p.K95K|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	95					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CCTTCTGCAACTTCAGAAACT	0.512																																																0													149	120	130					19																	19420931		2203	4300	6503	SO:0001819	synonymous_variant	57794			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.285G>A	chr19.hg19:g.19420931C>T			O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Silent	SNP	ENST00000247001.5	hg19	CCDS12399.1																																																																																				0.512	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		T	19420931	C	T	19420931	2	4	63	1	0	0	0	0	0	0	0	1	14161	564	20	2		2	SF4	19	19420931	Silent	SNP	C	TCGA-A4-7288-01A-11D-2136-08	17952864	19420931	39708052	65	4410											
ZNF347	84671	hgsc.bcm.edu	37	19	53643807	53643807	+	Silent	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:53643807A>G	ENST00000334197.7	-	5	2342	c.2274T>C	c.(2272-2274)atT>atC	p.I758I	ZNF347_ENST00000452676.2_Silent_p.I759I|ZNF347_ENST00000601469.2_Silent_p.I759I|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CTCCAGTATGAATTCCCCGAT	0.423																																					Melanoma(64;205 1597 17324 45721)											0													157	152	154					19																	53643807		2203	4300	6503	SO:0001819	synonymous_variant	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2274T>C	chr19.hg19:g.53643807A>G			B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	hg19	CCDS33097.1																																																																																				0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		G	53643807	A	G	53643807	2	3	63	1	0	0	0	0	0	0	0	1	17866	242	9	3		3	ZNF347	19	53643807	Silent	SNP	A	TCGA-A4-7288-01A-11D-2136-08	34222876	53643807	5485176	66	4411	46	2									
ZNF347	84671	hgsc.bcm.edu	37	19	53643811	53643811	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:53643811C>G	ENST00000334197.7	-	5	2338	c.2270G>C	c.(2269-2271)gGa>gCa	p.G757A	ZNF347_ENST00000452676.2_Missense_Mutation_p.G758A|ZNF347_ENST00000601469.2_Missense_Mutation_p.G758A|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	757					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGTATGAATTCCCCGATGTCT	0.423																																					Melanoma(64;205 1597 17324 45721)											0													159	153	155					19																	53643811		2203	4300	6503	SO:0001583	missense	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2270G>C	chr19.hg19:g.53643811C>G	ENSP00000334146:p.Gly757Ala		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	hg19	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	5.602	0.295791	0.10622	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.16897	2.31;2.31	3.15	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09862	0.0242	N	0.04063	-0.285	0.23739	N	0.996976	B;B	0.27068	0.167;0.0	B;B	0.32864	0.154;0.0	T	0.36138	-0.9760	9	0.72032	D	0.01	.	10.7968	0.46466	0.0:0.6301:0.3699:0.0	.	758;757	G5E9N4;Q96SE7	.;ZN347_HUMAN	A	757;758	ENSP00000334146:G757A;ENSP00000405218:G758A	ENSP00000334146:G757A	G	-	2	0	ZNF347	58335623	0.000000	0.05858	0.005000	0.12908	0.016000	0.09150	-3.284000	0.00527	0.642000	0.30620	0.650000	0.86243	GGA		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		G	53643811	C	G	53643811	3	3	63	1	0	0	0	0	1	0	0	0	17866	855	30	4	253	4	ZNF347	19	53643811	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08	4	53643811	5485172	67	4412	46	2									
RBBP9	10741	hgsc.bcm.edu	37	20	18471080	18471080	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr20:18471080G>A	ENST00000337227.4	-	4	368	c.293C>T	c.(292-294)gCg>gTg	p.A98V	RBBP9_ENST00000493184.1_Intron	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	98					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						TGATGTGTACGCAGACACTAA	0.408																																																0													158	140	146					20																	18471080		2203	4300	6503	SO:0001583	missense	10741			AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"retinoblastoma-binding protein 9"			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.293C>T	chr20.hg19:g.18471080G>A	ENSP00000336866:p.Ala98Val		D3DW31|Q5JPH9|Q9H1D8	Missense_Mutation	SNP	ENST00000337227.4	hg19	CCDS13136.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350862	0.82132	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	5.26	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.76615	0.4012	M	0.79614	2.46	0.45676	D	0.998592	D	0.89917	1.0	D	0.72625	0.978	T	0.77032	-0.2738	9	0.41790	T	0.15	-9.6629	11.6719	0.51406	0.0851:0.0:0.9149:0.0	.	98	O75884	RBBP9_HUMAN	V	98	.	ENSP00000336866:A98V	A	-	2	0	RBBP9	18419080	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	6.413000	0.73308	1.455000	0.47813	0.655000	0.94253	GCG		0.408	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		A	18471080	G	A	18471080	3	1	63	1	0	0	0	0	1	0	0	0	13112	1087	38	1	275	1	RBBP9	20	18471080	Missense_Mutation	SNP	G	TCGA-A4-7288-01A-11D-2136-08		18471080	44554440	68	4413											
ENTPD6	955	hgsc.bcm.edu	37	20	25201971	25201971	+	Splice_Site	SNP	T	T	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr20:25201971T>A	ENST00000376652.4	+	11	1208		c.e11+2		ENTPD6_ENST00000360031.2_Splice_Site|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Splice_Site			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)						response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGAAAGCAGGTACGGGGAGGG	0.582																																																0													87	75	79					20																	25201971		2203	4300	6503	SO:0001630	splice_region_variant	955			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1045+2T>A	chr20.hg19:g.25201971T>A			A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Splice_Site	SNP	ENST00000376652.4	hg19	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.531860	0.27387	.	.	ENSG00000197586	ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000433417;ENST00000376666	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8578	0.57894	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENTPD6	25149971	1.000000	0.71417	0.919000	0.36401	0.014000	0.08584	6.084000	0.71335	2.124000	0.65301	0.459000	0.35465	.		0.582	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2		Intron	A	25201971	T	A	25201971	5	1	63	1	0	0	0	0	0	0	1	0	5145	1652	57	5	1092	5	ENTPD6	20	25201971	Splice_Site	SNP	T	TCGA-A4-7288-01A-11D-2136-08	6730891	25201971	37823549	69	4414											
SGK2	10110	hgsc.bcm.edu	37	20	42208647	42208647	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr20:42208647A>G	ENST00000341458.4	+	11	1284	c.1065A>G	c.(1063-1065)atA>atG	p.I355M	SGK2_ENST00000373077.1_Missense_Mutation_p.I294M|SGK2_ENST00000423407.3_Missense_Mutation_p.I295M|SGK2_ENST00000373100.1_Missense_Mutation_p.I295M|SGK2_ENST00000426287.1_Missense_Mutation_p.I321M|SGK2_ENST00000373092.3_Missense_Mutation_p.I295M	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	355	AGC-kinase C-terminal.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAGCCCCATAAACTGGGATG	0.502																																																0													133	118	123					20																	42208647		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.1065A>G	chr20.hg19:g.42208647A>G	ENSP00000340608:p.Ile355Met		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	hg19	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178740	0.57692	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	4.62	2.2	0.27929	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.82823	2.61	0.52501	D	0.999953	D;D;D	0.89917	0.998;0.995;1.0	D;D;D	0.77557	0.986;0.972;0.99	T	0.66524	-0.5902	10	0.87932	D	0	.	6.32	0.21213	0.5364:0.3128:0.0:0.1508	.	321;355;295	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	M	295;295;294;295;355;321	ENSP00000362192:I295M;ENSP00000362184:I295M;ENSP00000362168:I294M;ENSP00000392795:I295M;ENSP00000340608:I355M;ENSP00000412214:I321M	ENSP00000340608:I355M	I	+	3	3	SGK2	41642061	0.996000	0.38824	1.000000	0.80357	0.967000	0.64934	0.539000	0.23175	0.183000	0.20059	0.460000	0.39030	ATA		0.502	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			G	42208647	A	G	42208647	3	3	63	1	0	0	0	0	1	0	0	0	14215	352	13	3	1107	3	SGK2	20	42208647	Missense_Mutation	SNP	A	TCGA-A4-7288-01A-11D-2136-08	17006676	42208647	20816873	70	4415											
LIMK2	3985	hgsc.bcm.edu	37	22	31655910	31655910	+	Missense_Mutation	SNP	T	T	C	rs377628882		TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr22:31655910T>C	ENST00000331728.4	+	5	512	c.398T>C	c.(397-399)aTg>aCg	p.M133T	LIMK2_ENST00000340552.4_Missense_Mutation_p.M112T|LIMK2_ENST00000333611.4_Missense_Mutation_p.M112T|LIMK2_ENST00000406516.1_Missense_Mutation_p.M55T|LIMK2_ENST00000444929.2_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	133					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CTGGCACCCATGTTTGAGAGA	0.602																																																0								T	THR/MET,THR/MET,THR/MET	1,4405	2.1+/-5.4	0,1,2202	55	50	52		335,398,335	5.6	1	22		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LIMK2	NM_001031801.1,NM_005569.3,NM_016733.2	81,81,81	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign,benign,benign	112/687,133/639,112/618	31655910	2,13004	2203	4300	6503	SO:0001583	missense	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.398T>C	chr22.hg19:g.31655910T>C	ENSP00000332687:p.Met133Thr		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	hg19	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234384	0.39498	2.27E-4	1.16E-4	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.73575	-0.76;-0.59;-0.64;-0.71	5.63	5.63	0.86233	.	0.039543	0.85682	D	0.000000	T	0.61862	0.2381	L	0.36672	1.1	0.80722	D	1	B;B;B;P	0.35328	0.01;0.017;0.002;0.495	B;B;B;B	0.33750	0.018;0.008;0.004;0.169	T	0.59397	-0.7462	10	0.20519	T	0.43	-31.4981	10.2918	0.43601	0.1471:0.0:0.0:0.8529	.	165;112;133;55	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	T	55;133;165;112;112	ENSP00000384602:M55T;ENSP00000332687:M133T;ENSP00000330470:M112T;ENSP00000339916:M112T	ENSP00000332687:M133T	M	+	2	0	LIMK2	29985910	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.829000	0.69316	2.144000	0.66660	0.459000	0.35465	ATG		0.602	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		C	31655910	T	C	31655910	3	2	63	1	0	0	0	0	1	0	0	0	8804	1464	51	3	473	3	LIMK2	22	31655910	Missense_Mutation	SNP	T	TCGA-A4-7288-01A-11D-2136-08		31655910	19648656	71	4416											
BAIAP2L2	80115	hgsc.bcm.edu	37	22	38482355	38482355	+	Missense_Mutation	SNP	C	C	G	rs371997714|rs113792005|rs66500630	byFrequency	TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr22:38482355C>G	ENST00000381669.3	-	12	1505	c.1361G>C	c.(1360-1362)cGc>cCc	p.R454P	SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	454					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GCTTGGGGTGCGGGAGCGGGA	0.697																																																0													17	19	18					22																	38482355		2066	3890	5956	SO:0001583	missense	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1361G>C	chr22.hg19:g.38482355C>G	ENSP00000371085:p.Arg454Pro		B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	hg19	CCDS43018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.52|15.52	2.857588|2.857588	0.51376|0.51376	.|.	.|.	ENSG00000128298|ENSG00000128298	ENST00000402500|ENST00000381669;ENST00000428572	.|T	.|0.49139	.|0.79	4.42|4.42	2.26|2.26	0.28386|0.28386	.|.	.|1.035940	.|0.07692	.|U	.|0.938938	.|T	.|0.36026	.|0.0952	L|L	0.38531|0.38531	1.155|1.155	0.19300|0.19300	N|N	0.999976|0.999976	.|P	.|0.43578	.|0.811	.|B	.|0.36719	.|0.231	.|T	.|0.18650	.|-1.0330	.|10	.|0.42905	.|T	.|0.14	.|-8.7443	8.9998|8.9998	0.36074|0.36074	0.0:0.8207:0.0:0.1793|0.0:0.8207:0.0:0.1793	.|.	.|454	.|Q6UXY1	.|BI2L2_HUMAN	.|P	-1|454;145	.|ENSP00000410074:R145P	.|ENSP00000371085:R454P	.|R	-|-	.|2	.|0	BAIAP2L2|BAIAP2L2	36812301|36812301	0.028000|0.028000	0.19301|0.19301	0.834000|0.834000	0.33040|0.33040	0.620000|0.620000	0.37586|0.37586	0.644000|0.644000	0.24766|0.24766	0.846000|0.846000	0.35142|0.35142	0.462000|0.462000	0.41574|0.41574	.|CGC		0.697	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		G	38482355	C	G	38482355	3	3	63	1	0	0	0	0	1	0	0	0	1303	768	27	4	240	4	BAIAP2L2	22	38482355	Missense_Mutation	SNP	C	TCGA-A4-7288-01A-11D-2136-08	6826445	38482355	12822211	72	4417											
PLA2G6	8398	hgsc.bcm.edu	37	22	38536176	38536176	+	Splice_Site	DEL	G	G	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr22:38536176delG	ENST00000332509.3	-	5	793	c.610delC	c.(610-612)ctc>tc	p.L205fs	PLA2G6_ENST00000436218.1_Splice_Site_p.S143fs|PLA2G6_ENST00000402064.1_Splice_Site_p.L205fs|PLA2G6_ENST00000335539.3_Splice_Site_p.L205fs	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	205					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTTCCAAGGAGCTGATGAAAG	0.567																																																0													45	43	44					22																	38536176		2203	4300	6503	SO:0001630	splice_region_variant	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.610-1C>-	chr22.hg19:g.38536176delG			A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Frame_Shift_Del	DEL	ENST00000332509.3	hg19	CCDS13967.1																																																																																				0.567	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426	Frame_Shift_Del	-	38536176	G	-	38536176	8	5	63	1	0	1	0	1	0	0	1	0	12010	985	34	0	1862	0	PLA2G6	22	38536176	Splice_Site	DEL	G	TCGA-A4-7288-01A-11D-2136-08	53821	38536176	12768390	73	4418											
CLCA2	9635	hgsc.bcm.edu	37	1	86890015	86890015	+	Silent	SNP	C	C	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr1:86890015C>T	ENST00000370565.4	+	1	247	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	29					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACTCCCATTCCTGGGAGCTGG	0.443																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											0													113	103	106					1																	86890015		2203	4300	6503	SO:0001819	synonymous_variant	9635				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.85C>T	chr1.hg19:g.86890015C>T			A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	hg19	CCDS708.1																																																																																				0.443	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		T	86890015	C	T	86890015	2	4	64	1	0	0	0	0	0	0	0	1	3460	680	24	2		2	CLCA2	1	86890015	Silent	SNP	C	TCGA-A4-7583-01A-11D-2136-08		86890015	162360606	1	4419											
ADAR	103	hgsc.bcm.edu	37	1	154574741	154574741	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr1:154574741A>G	ENST00000368474.4	-	2	576	c.377T>C	c.(376-378)cTt>cCt	p.L126P	ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.L169P|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	126					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATGTGAGGAAAGGCAATCAAC	0.537																																																0													63	65	64					1																	154574741		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.377T>C	chr1.hg19:g.154574741A>G	ENSP00000357459:p.Leu126Pro		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	hg19	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559114	0.45590	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.79749	-1.3;-1.3;-1.3	4.47	4.47	0.54385	.	0.972834	0.08506	N	0.935700	D	0.86167	0.5868	M	0.63843	1.955	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.991;0.991;0.997	T	0.82985	-0.0185	10	0.87932	D	0	-16.02	13.8697	0.63610	1.0:0.0:0.0:0.0	.	126;126;126	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	P	169;126;121	ENSP00000292205:L169P;ENSP00000357459:L126P;ENSP00000431794:L121P	ENSP00000292205:L169P	L	-	2	0	ADAR	152841365	0.992000	0.36948	0.866000	0.34008	0.393000	0.30537	5.187000	0.65087	1.992000	0.58205	0.402000	0.26972	CTT		0.537	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		G	154574741	A	G	154574741	3	3	64	1	0	0	0	0	1	0	0	0	281	72	3	3	3359	3	ADAR	1	154574741	Missense_Mutation	SNP	A	TCGA-A4-7583-01A-11D-2136-08	67684726	154574741	94675880	2	4420											
HDGF	3068	hgsc.bcm.edu	37	1	156715103	156715104	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr1:156715103_156715104insA	ENST00000357325.5	-	2	463_464	c.149_150insT	c.(148-150)ttcfs	p.F50fs	HDGF_ENST00000368209.5_Frame_Shift_Ins_p.F43fs|HDGF_ENST00000537739.1_Frame_Shift_Ins_p.F50fs|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Frame_Shift_Ins_p.F18fs|HDGF_ENST00000368206.5_Frame_Shift_Ins_p.F66fs	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	50	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CGTGGGTCCCGAAAAAAAAGAC	0.564																																																0																																										SO:0001589	frameshift_variant	3068			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.150dupT	chr1.hg19:g.156715111_156715111dupA	ENSP00000349878:p.Phe50fs		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Frame_Shift_Ins	INS	ENST00000357325.5	hg19	CCDS1156.1																																																																																				0.564	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		A	156715104	-	A	156715103	7	5	64	1	0	1	1	0	0	0	0	0	7020	1049	37	0	592	0	HDGF	1	156715103	Frame_Shift_Ins	INS	-	TCGA-A4-7583-01A-11D-2136-08	2140362	156715103	92535518	3	4421											
MIA3	375056	hgsc.bcm.edu	37	1	222838735	222838735	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr1:222838735G>T	ENST00000344922.5	+	28	5523	c.5498G>T	c.(5497-5499)cGg>cTg	p.R1833L	MIA3_ENST00000340535.7_Missense_Mutation_p.R711L|MIA3_ENST00000344441.6_Missense_Mutation_p.R1833L|AIDA_ENST00000474863.1_5'Flank|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1833	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R1833L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTCCACCCTCGGGGATTTTTA	0.517																																																1	Substitution - Missense(1)	lung(1)											205	206	206					1																	222838735		1896	4114	6010	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5498G>T	chr1.hg19:g.222838735G>T	ENSP00000340900:p.Arg1833Leu		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	hg19	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489698	0.64074	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.09630	3.47;3.47;2.96	5.89	5.89	0.94794	.	.	.	.	.	T	0.30324	0.0761	M	0.71581	2.175	0.44234	D	0.997072	D;D	0.57257	0.979;0.972	P;P	0.56343	0.796;0.707	T	0.00411	-1.1756	9	0.72032	D	0.01	.	19.817	0.96573	0.0:0.0:1.0:0.0	.	711;1833	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	L	1833;1833;1774;711;711	ENSP00000340900:R1833L;ENSP00000340587:R1833L;ENSP00000345866:R711L	ENSP00000284471:R711L	R	+	2	0	MIA3	220905358	1.000000	0.71417	0.917000	0.36280	0.179000	0.23085	6.055000	0.71103	2.786000	0.95864	0.591000	0.81541	CGG		0.517	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		T	222838735	G	T	222838735	3	4	64	1	0	0	0	0	1	0	0	0	9567	1116	39	4	5608	4	MIA3	1	222838735	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08	66123632	222838735	26411886	4	4422											
CCT7	10574	hgsc.bcm.edu	37	2	73471795	73471795	+	Silent	SNP	G	G	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:73471795G>T	ENST00000258091.5	+	6	711	c.570G>T	c.(568-570)ctG>ctT	p.L190L	CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Silent_p.L103L|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000538797.1_Silent_p.L62L|CCT7_ENST00000537131.1_Silent_p.L90L|CCT7_ENST00000539919.1_Silent_p.L146L	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	190					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						ATGATTTGCTGCAGCTTAAAA	0.498																																																0													64	63	63					2																	73471795		2046	4197	6243	SO:0001819	synonymous_variant	10574			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.570G>T	chr2.hg19:g.73471795G>T			A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	ENST00000258091.5	hg19	CCDS46336.1																																																																																				0.498	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			T	73471795	G	T	73471795	2	4	64	1	0	0	0	0	0	0	0	1	2961	1306	46	4		4	CCT7	2	73471795	Silent	SNP	G	TCGA-A4-7583-01A-11D-2136-08		73471795	169727578	5	4423											
GORASP2	26003	hgsc.bcm.edu	37	2	171806790	171806790	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:171806790T>C	ENST00000234160.4	+	4	1240	c.425T>C	c.(424-426)gTc>gCc	p.V142A	GORASP2_ENST00000452526.2_Missense_Mutation_p.V154A|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	142					mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GCAGATACAGTCATGAATGAG	0.368																																																0													72	73	73					2																	171806790		2203	4300	6503	SO:0001583	missense	26003				CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"golgi reassembly stacking protein 2, 55 kDa"			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.425T>C	chr2.hg19:g.171806790T>C	ENSP00000234160:p.Val142Ala		B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	hg19	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583219	0.65992	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.31247	1.5;1.5	5.95	5.95	0.96441	PDZ/DHR/GLGF (1);	0.116778	0.64402	D	0.000018	T	0.44201	0.1282	M	0.73753	2.245	0.58432	D	0.999992	B;B;B	0.23591	0.045;0.088;0.035	B;B;B	0.36845	0.107;0.168;0.234	T	0.35201	-0.9798	10	0.45353	T	0.12	-6.4014	16.4069	0.83677	0.0:0.0:0.0:1.0	.	98;154;142	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	A	142;154	ENSP00000234160:V142A;ENSP00000410208:V154A	ENSP00000234160:V142A	V	+	2	0	GORASP2	171515036	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	4.174000	0.58256	2.272000	0.75746	0.460000	0.39030	GTC		0.368	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			C	171806790	T	C	171806790	3	2	64	1	0	0	0	0	1	0	0	0	6578	1667	58	3	439	3	GORASP2	2	171806790	Missense_Mutation	SNP	T	TCGA-A4-7583-01A-11D-2136-08	98334995	171806790	71392583	6	4424											
TTN	7273	hgsc.bcm.edu	37	2	179411556	179411556	+	Silent	SNP	A	A	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:179411556A>G	ENST00000591111.1	-	291	89900	c.89676T>C	c.(89674-89676)gaT>gaC	p.D29892D	TTN_ENST00000342175.6_Silent_p.D22660D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.D22593D|TTN_ENST00000460472.2_Silent_p.D22468D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.D31533D|TTN_ENST00000342992.6_Silent_p.D28965D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29892	Fibronectin type-III 118. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTGCCTCCATCATACGCTG	0.498																																																0													60	61	61					2																	179411556		2069	4216	6285	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89676T>C	chr2.hg19:g.179411556A>G			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	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179411556	A	G	179411556	2	3	64	1	0	0	0	0	0	0	0	1	16740	214	8	3		3	TTN	2	179411556	Silent	SNP	A	TCGA-A4-7583-01A-11D-2136-08	7604766	179411556	63787817	7	4425											
SF3B1	23451	hgsc.bcm.edu	37	2	198269882	198269882	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:198269882G>C	ENST00000335508.6	-	11	1548	c.1457C>G	c.(1456-1458)aCa>aGa	p.T486R	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	486	Interaction with PPP1R8.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGGACTAAGTGTTGATTCATC	0.289			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													51	54	53					2																	198269882		2201	4295	6496	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1457C>G	chr2.hg19:g.198269882G>C	ENSP00000335321:p.Thr486Arg		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	hg19	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931911	0.52866	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	L	0.27053	0.805	0.80722	D	1	B	0.23806	0.091	B	0.23275	0.045	T	0.44817	-0.9303	9	0.35671	T	0.21	.	19.9254	0.97100	0.0:0.0:1.0:0.0	.	486	O75533	SF3B1_HUMAN	R	486	.	ENSP00000335321:T486R	T	-	2	0	SF3B1	197978127	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.721000	0.98766	2.710000	0.92621	0.655000	0.94253	ACA		0.289	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			C	198269882	G	C	198269882	3	2	64	1	0	0	0	0	1	0	0	0	14155	1377	48	4	2517	4	SF3B1	2	198269882	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08	18858326	198269882	44929491	8	4426											
SATB2	23314	hgsc.bcm.edu	37	2	200193570	200193570	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:200193570C>A	ENST00000417098.1	-	8	2053	c.1237G>T	c.(1237-1239)Gta>Tta	p.V413L	RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000428695.1_Missense_Mutation_p.V295L|SATB2_ENST00000443023.1_Missense_Mutation_p.V354L|SATB2_ENST00000260926.5_Missense_Mutation_p.V413L|SATB2_ENST00000457245.1_Missense_Mutation_p.V413L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	413					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCAGGTTTACTAGAAGAGAC	0.488																																					Colon(30;262 767 11040 24421 36230)											0													93	87	89					2																	200193570		2203	4300	6503	SO:0001583	missense	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1237G>T	chr2.hg19:g.200193570C>A	ENSP00000401112:p.Val413Leu		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	hg19	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081487	0.94050	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.54675	0.58;0.59;0.58;0.56;0.58	4.98	4.98	0.66077	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.71273	0.3320	M	0.63428	1.95	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.87578	0.992;0.998	T	0.73030	-0.4111	10	0.66056	D	0.02	-10.9637	18.8143	0.92071	0.0:1.0:0.0:0.0	.	295;413	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	L	413;354;413;295;413	ENSP00000401112:V413L;ENSP00000388764:V354L;ENSP00000260926:V413L;ENSP00000388581:V295L;ENSP00000405420:V413L	ENSP00000260926:V413L	V	-	1	0	SATB2	199901815	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.609000	0.82925	2.747000	0.94245	0.650000	0.86243	GTA		0.488	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		A	200193570	C	A	200193570	3	1	64	1	0	0	0	0	1	0	0	0	13860	565	20	4	980	4	SATB2	2	200193570	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08	1923688	200193570	43005803	9	4427											
NOP58	51602	hgsc.bcm.edu	37	2	203155146	203155146	+	Silent	SNP	T	T	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:203155146T>C	ENST00000264279.5	+	7	826	c.600T>C	c.(598-600)gaT>gaC	p.D200D	SNORD11_ENST00000459124.1_RNA|SNORD11B_ENST00000607707.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	200					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TTATTTCAGATAATTTAACAT	0.323																																																0													92	98	96					2																	203155146		2203	4299	6502	SO:0001819	synonymous_variant	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.600T>C	chr2.hg19:g.203155146T>C			Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	ENST00000264279.5	hg19	CCDS2353.1																																																																																				0.323	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		C	203155146	T	C	203155146	2	2	64	1	0	0	0	0	0	0	0	1	10542	1403	49	3		3	NOP58	2	203155146	Silent	SNP	T	TCGA-A4-7583-01A-11D-2136-08	2961576	203155146	40044227	10	4428											
CYP27A1	1593	hgsc.bcm.edu	37	2	219677361	219677361	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:219677361G>T	ENST00000258415.4	+	4	1160	c.733G>T	c.(733-735)Ggg>Tgg	p.G245W		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	245					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CAGATCCATCGGGTTAATGTT	0.542																																																0													293	279	283					2																	219677361		2203	4300	6503	SO:0001583	missense	1593			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.733G>T	chr2.hg19:g.219677361G>T	ENSP00000258415:p.Gly245Trp		A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	hg19	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046552	0.36085	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.68624	-0.34;-0.34	6.15	5.26	0.73747	.	0.687740	0.15167	N	0.276843	T	0.80747	0.4682	M	0.80616	2.505	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.71686	-0.4518	10	0.59425	D	0.04	-13.3933	9.5132	0.39089	0.0802:0.1812:0.7386:0.0	.	245	Q02318	CP27A_HUMAN	W	245;151	ENSP00000258415:G245W;ENSP00000392671:G151W	ENSP00000258415:G245W	G	+	1	0	CYP27A1	219385605	0.163000	0.22920	0.017000	0.16124	0.140000	0.21249	2.817000	0.48034	1.510000	0.48803	0.643000	0.83706	GGG		0.542	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			T	219677361	G	T	219677361	3	4	64	1	0	0	0	0	1	0	0	0	4160	1116	39	4	747	4	CYP27A1	2	219677361	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08	16522215	219677361	23522012	11	4429											
MLH1	4292	hgsc.bcm.edu	37	3	37067255	37067255	+	Missense_Mutation	SNP	G	G	T	rs63750361	byFrequency	TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr3:37067255G>T	ENST00000231790.2	+	12	1382	c.1166G>T	c.(1165-1167)cGg>cTg	p.R389L	MLH1_ENST00000458205.2_Missense_Mutation_p.R148L|MLH1_ENST00000455445.2_Missense_Mutation_p.R148L|MLH1_ENST00000539477.1_Missense_Mutation_p.R148L|MLH1_ENST00000536378.1_Missense_Mutation_p.R148L|MLH1_ENST00000435176.1_Missense_Mutation_p.R291L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	389					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ACAGATTCCCGGGAACAGAAG	0.493		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	1	Whole gene deletion(1)	ovary(1)	GRCh37	CM076299	MLH1	M	rs63750361						108	108	108					3																	37067255		2203	4300	6503	SO:0001583	missense	4292	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	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1166G>T	chr3.hg19:g.37067255G>T	ENSP00000231790:p.Arg389Leu		B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	hg19	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.26|19.26	3.792596|3.792596	0.70452|0.70452	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000456676|ENST00000231790;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	.|D;D;D;D;D;D	.|0.90133	.|-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.066158	.|0.64402	.|D	.|0.000013	D|D	0.89227|0.89227	0.6655|0.6655	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	.|B;B;P;P;B;B	.|0.38565	.|0.114;0.065;0.511;0.637;0.052;0.052	.|B;B;B;B;B;B	.|0.38020	.|0.046;0.068;0.254;0.263;0.04;0.04	D|D	0.88671|0.88671	0.3195|0.3195	5|10	.|0.46703	.|T	.|0.11	-17.9936|-17.9936	19.7664|19.7664	0.96346|0.96346	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|291;291;148;148;389;389	.|E9PCU2;B4DQ11;B7Z821;B4DI13;Q53GX1;P40692	.|.;.;.;.;.;MLH1_HUMAN	W|L	381|389;253;148;148;148;291;148	.|ENSP00000231790:R389L;ENSP00000402667:R148L;ENSP00000443665:R148L;ENSP00000398272:R148L;ENSP00000402564:R291L;ENSP00000444286:R148L	.|ENSP00000231790:R389L	G|R	+|+	1|2	0|0	MLH1|MLH1	37042259|37042259	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.985000|0.985000	0.73830|0.73830	7.058000|7.058000	0.76676|0.76676	2.671000|2.671000	0.90904|0.90904	0.557000|0.557000	0.71058|0.71058	GGG|CGG		0.493	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		T	37067255	G	T	37067255	3	4	64	1	0	0	0	0	1	0	0	0	9619	1116	39	4	1212	4	MLH1	3	37067255	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08		37067255	160955175	12	4430											
PBRM1	55193	hgsc.bcm.edu	37	3	52588791	52588791	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr3:52588791G>T	ENST00000296302.7	-	27	4559	c.4558C>A	c.(4558-4560)Ccc>Acc	p.P1520T	PBRM1_ENST00000410007.1_Missense_Mutation_p.P1440T|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Missense_Mutation_p.P1433T|PBRM1_ENST00000409114.3_Intron|RNU6-856P_ENST00000516959.1_RNA|PBRM1_ENST00000337303.4_Intron|PBRM1_ENST00000409767.1_Intron|PBRM1_ENST00000409057.1_Missense_Mutation_p.P1465T|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1413T			Q86U86	PB1_HUMAN	polybromo 1	1520	Pro-rich.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGATGGTGGGGTGGAGGCCCC	0.582			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													46	46	46					3																	52588791		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4558C>A	chr3.hg19:g.52588791G>T	ENSP00000296302:p.Pro1520Thr		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	hg19		.	.	.	.	.	.	.	.	.	.	G	15.23	2.771379	0.49680	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000409057;ENST00000410007	T;T;T;T;T	0.34859	1.35;1.34;1.39;1.35;1.35	5.75	5.75	0.90469	.	0.192124	0.47455	D	0.000227	T	0.21761	0.0524	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.32829	0.386;0.386;0.386;0.267;0.386	B;B;B;B;B	0.31101	0.124;0.124;0.124;0.058;0.086	T	0.08411	-1.0723	10	0.22706	T	0.39	-8.6684	18.1254	0.89584	0.0:0.0:1.0:0.0	.	1440;1413;1465;1520;1433	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86;Q86U86-3	.;.;.;PB1_HUMAN;.	T	1433;1413;1520;1465;1440	ENSP00000349213:P1433T;ENSP00000378307:P1413T;ENSP00000296302:P1520T;ENSP00000386593:P1465T;ENSP00000386529:P1440T	ENSP00000296302:P1520T	P	-	1	0	PBRM1	52563831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.959000	0.63666	2.696000	0.92011	0.655000	0.94253	CCC		0.582	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52588791	G	T	52588791	3	4	64	1	0	0	0	0	1	0	0	0	11493	1261	44	4	527	4	PBRM1	3	52588791	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08	15521536	52588791	145433639	13	4431											
CLDN18	51208	hgsc.bcm.edu	37	3	137742626	137742626	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr3:137742626A>T	ENST00000183605.5	+	2	573	c.347A>T	c.(346-348)aAc>aTc	p.N116I	CLDN18_ENST00000343735.4_Missense_Mutation_p.N116I	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	116					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCCAAAGCCAACATGACACTG	0.502																																																0													105	85	92					3																	137742626		2203	4300	6503	SO:0001583	missense	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.347A>T	chr3.hg19:g.137742626A>T	ENSP00000183605:p.Asn116Ile		A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000183605.5	hg19	CCDS3095.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.774666	0.49786	.	.	ENSG00000066405	ENST00000343735;ENST00000183605;ENST00000536138	D;D	0.85773	-1.98;-2.03	5.43	4.25	0.50352	.	0.400442	0.26013	N	0.026870	T	0.79684	0.4488	L	0.31065	0.9	0.36035	D	0.839645	P;P	0.38250	0.487;0.624	B;B	0.41332	0.285;0.354	T	0.81972	-0.0688	10	0.48119	T	0.1	.	12.5759	0.56363	0.861:0.139:0.0:0.0	.	116;116	P56856;P56856-2	CLD18_HUMAN;.	I	116;116;105	ENSP00000340939:N116I;ENSP00000183605:N116I	ENSP00000183605:N116I	N	+	2	0	CLDN18	139225316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.836000	0.55813	0.878000	0.35920	0.528000	0.53228	AAC		0.502	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357199.2	NM_001002026		T	137742626	A	T	137742626	3	4	64	1	0	0	0	0	1	0	0	0	3481	43	2	5	577	5	CLDN18	3	137742626	Missense_Mutation	SNP	A	TCGA-A4-7583-01A-11D-2136-08	85153835	137742626	60279804	14	4432											
FNDC3B	64778	hgsc.bcm.edu	37	3	171965496	171965496	+	Silent	SNP	C	C	A	rs139712731		TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr3:171965496C>A	ENST00000336824.4	+	5	537	c.438C>A	c.(436-438)acC>acA	p.T146T	FNDC3B_ENST00000416957.1_Silent_p.T146T|FNDC3B_ENST00000415807.2_Silent_p.T146T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	146					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CACCTGTTACCGGACCTGGAG	0.502																																																0													208	182	191					3																	171965496		2203	4300	6503	SO:0001819	synonymous_variant	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.438C>A	chr3.hg19:g.171965496C>A			B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	hg19	CCDS3217.1																																																																																				0.502	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		A	171965496	C	A	171965496	2	1	64	1	0	0	0	0	0	0	0	1	5972	639	23	4		4	FNDC3B	3	171965496	Silent	SNP	C	TCGA-A4-7583-01A-11D-2136-08	34222870	171965496	26056934	15	4433											
TMEM41A	90407	hgsc.bcm.edu	37	3	185209397	185209397	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr3:185209397T>A	ENST00000421852.1	-	5	818	c.723A>T	c.(721-723)aaA>aaT	p.K241N	TMEM41A_ENST00000475480.1_Intron|TMEM41A_ENST00000296254.3_3'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	241						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCTGACTAAATTTTTTAATGA	0.408																																																0													115	114	115					3																	185209397		2203	4300	6503	SO:0001583	missense	90407			BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.723A>T	chr3.hg19:g.185209397T>A	ENSP00000406885:p.Lys241Asn		A8K4B3|D3DNU2|Q6ZMJ0	Missense_Mutation	SNP	ENST00000421852.1	hg19	CCDS3271.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.427515	0.43122	.	.	ENSG00000163900	ENST00000421852	.	.	.	6.08	-4.0	0.04057	.	0.341077	0.31772	N	0.007083	T	0.54078	0.1836	M	0.76574	2.34	0.80722	D	1	B	0.14805	0.011	B	0.17433	0.018	T	0.42916	-0.9423	9	0.29301	T	0.29	-18.9262	10.7523	0.46216	0.0:0.4413:0.0938:0.4649	.	241	Q96HV5	TM41A_HUMAN	N	241	.	ENSP00000406885:K241N	K	-	3	2	TMEM41A	186692091	0.000000	0.05858	0.846000	0.33378	0.988000	0.76386	-1.837000	0.01689	-0.284000	0.09102	0.533000	0.62120	AAA		0.408	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		A	185209397	T	A	185209397	3	1	64	1	0	0	0	0	1	0	0	0	16169	1490	52	5	75	5	TMEM41A	3	185209397	Missense_Mutation	SNP	T	TCGA-A4-7583-01A-11D-2136-08	13243901	185209397	12813033	16	4434											
FGFR3	2261	hgsc.bcm.edu	37	4	1806088	1806088	+	Silent	SNP	G	G	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr4:1806088G>T	ENST00000260795.2	+	8	1209	c.1107G>T	c.(1105-1107)gcG>gcT	p.A369A	FGFR3_ENST00000340107.4_Silent_p.A371A|FGFR3_ENST00000481110.2_Silent_p.A369A|FGFR3_ENST00000440486.2_Silent_p.A369A|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	369					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.A369A(6)|p.A369_G370>VC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CTGACGAGGCGGGCAGTGTGT	0.692		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	7	Substitution - coding silent(6)|Complex - compound substitution(1)	urinary_tract(7)											129	125	126					4																	1806088		2203	4300	6503	SO:0001819	synonymous_variant	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1107G>T	chr4.hg19:g.1806088G>T			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	hg19	CCDS3353.1																																																																																				0.692	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		T	1806088	G	T	1806088	2	4	64	1	0	0	0	0	0	0	0	1	5869	1103	39	4		4	FGFR3	4	1806088	Silent	SNP	G	TCGA-A4-7583-01A-11D-2136-08		1806088	189348188	17	4435											
PROM1	8842	hgsc.bcm.edu	37	4	15989284	15989287	+	Splice_Site	DEL	ACCA	ACCA	-			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	ACCA	ACCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr4:15989284_15989287delACCA	ENST00000510224.1	-	20	2377_2379	c.2129_2131delTGGT	c.(2128-2133)ttggta>tta	p.V711fs	PROM1_ENST00000508167.1_Splice_Site_p.V702fs|PROM1_ENST00000543373.1_Splice_Site_p.V702fs|PROM1_ENST00000539194.1_Splice_Site_p.V711fs|PROM1_ENST00000505450.1_Splice_Site_p.V702fs|PROM1_ENST00000447510.2_Splice_Site_p.V711fs|PROM1_ENST00000540805.1_Splice_Site_p.V711fs			O43490	PROM1_HUMAN	prominin 1	711					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						GTAAACCCTTACCAACAATCCATT	0.343																																																0																																										SO:0001630	splice_region_variant	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.2130+1TGGT>-	chr4.hg19:g.15989284_15989287delACCA			Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	hg19	CCDS47029.1																																																																																				0.343	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	Frame_Shift_Del	-	15989287	ACCA	-	15989284	8	5	64	1	0	1	0	1	0	0	1	0	12560	405	14	0	497	0	PROM1	4	15989284	Splice_Site	DEL	ACCA	TCGA-A4-7583-01A-11D-2136-08	14183196	15989284	175164992	18	4436											
SLC10A6	345274	hgsc.bcm.edu	37	4	87749228	87749228	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr4:87749228G>C	ENST00000273905.6	-	4	826	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V	SLC10A6_ENST00000505535.1_Intron	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	227					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTGATGGTCAGAAGGGTGATG	0.498																																																0													89	81	84					4																	87749228		2203	4300	6503	SO:0001583	missense	345274			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.679C>G	chr4.hg19:g.87749228G>C	ENSP00000273905:p.Leu227Val		Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	hg19	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010693	0.35511	.	.	ENSG00000145283	ENST00000273905	T	0.78816	-1.21	5.28	3.48	0.39840	.	0.167902	0.30320	N	0.009895	T	0.67477	0.2897	L	0.54323	1.7	0.28830	N	0.897216	P	0.42357	0.777	B	0.39339	0.297	T	0.66118	-0.6003	10	0.49607	T	0.09	-15.0839	4.1624	0.10291	0.1683:0.0:0.6333:0.1984	.	227	Q3KNW5	SOAT_HUMAN	V	227	ENSP00000273905:L227V	ENSP00000273905:L227V	L	-	1	2	SLC10A6	87968252	0.998000	0.40836	0.998000	0.56505	0.705000	0.40729	1.536000	0.36072	2.736000	0.93811	0.655000	0.94253	CTG		0.498	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		C	87749228	G	C	87749228	3	2	64	1	0	0	0	0	1	0	0	0	14384	933	33	4	466	4	SLC10A6	4	87749228	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08	71759944	87749228	103405048	19	4437											
CAMK2D	817	hgsc.bcm.edu	37	4	114434488	114434488	+	Silent	SNP	G	G	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr4:114434488G>A	ENST00000342666.5	-	12	941	c.942C>T	c.(940-942)ttC>ttT	p.F314F	CAMK2D_ENST00000418639.2_Silent_p.F314F|CAMK2D_ENST00000505990.1_Silent_p.F314F|CAMK2D_ENST00000429180.1_Silent_p.F314F|CAMK2D_ENST00000511664.1_Silent_p.F314F|CAMK2D_ENST00000514328.1_Silent_p.F314F|CAMK2D_ENST00000394524.3_Silent_p.F314F|CAMK2D_ENST00000296402.5_Silent_p.F314F|CAMK2D_ENST00000508738.1_Silent_p.F314F|CAMK2D_ENST00000454265.2_Silent_p.F314F|CAMK2D_ENST00000379773.2_Silent_p.F314F|CAMK2D_ENST00000394522.3_Silent_p.F314F|CAMK2D_ENST00000394526.2_Silent_p.F314F|CAMK2D_ENST00000515496.1_Silent_p.F314F			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	314					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ATGTACCTGAGAAATTCCTTG	0.358																																																0													94	93	93					4																	114434488		2203	4300	6503	SO:0001819	synonymous_variant	817			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.942C>T	chr4.hg19:g.114434488G>A			A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Silent	SNP	ENST00000342666.5	hg19	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	G	7.680	0.688715	0.14973	.	.	ENSG00000145349	ENST00000513132	.	.	.	5.36	-2.88	0.05682	.	.	.	.	.	T	0.51839	0.1698	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48031	-0.9070	4	.	.	.	.	8.2973	0.31993	0.2489:0.0:0.6045:0.1466	.	.	.	.	F	18	.	.	L	-	1	0	CAMK2D	114653937	1.000000	0.71417	0.988000	0.46212	0.671000	0.39405	2.348000	0.44045	-0.497000	0.06641	-1.284000	0.01376	CTC		0.358	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			A	114434488	G	A	114434488	2	1	64	1	0	0	0	0	0	0	0	1	2603	933	33	2		2	CAMK2D	4	114434488	Silent	SNP	G	TCGA-A4-7583-01A-11D-2136-08	26685260	114434488	76719788	20	4438											
NPY1R	4886	hgsc.bcm.edu	37	4	164246582	164246582	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr4:164246582C>A	ENST00000296533.2	-	3	1559	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L	NPY1R_ENST00000509586.1_Missense_Mutation_p.R100L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.R343L(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATCATCATCCCGAGACCGGAA	0.398																																																1	Substitution - Missense(1)	lung(1)											140	147	144					4																	164246582		2203	4300	6503	SO:0001583	missense	4886				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1028G>T	chr4.hg19:g.164246582C>A	ENSP00000354652:p.Arg343Leu		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	hg19	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173580	0.21704	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.36878	1.23;1.23	5.48	4.64	0.57946	.	0.258733	0.30859	N	0.008736	T	0.27798	0.0684	L	0.31926	0.97	0.46774	D	0.99919	B	0.27229	0.172	B	0.19391	0.025	T	0.03555	-1.1025	10	0.28530	T	0.3	.	14.4236	0.67200	0.0:0.9289:0.0:0.0711	.	343	P25929	NPY1R_HUMAN	L	343;100	ENSP00000354652:R343L;ENSP00000427284:R100L	ENSP00000354652:R343L	R	-	2	0	NPY1R	164466032	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	2.261000	0.43276	1.309000	0.44985	0.655000	0.94253	CGG		0.398	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			A	164246582	C	A	164246582	3	1	64	1	0	0	0	0	1	0	0	0	10610	652	23	4	130	4	NPY1R	4	164246582	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08	49812094	164246582	26907694	21	4439											
TLR3	7098	hgsc.bcm.edu	37	4	187004092	187004092	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr4:187004092A>C	ENST00000296795.3	+	4	1356	c.1252A>C	c.(1252-1254)Aaa>Caa	p.K418Q	TLR3_ENST00000504367.1_Missense_Mutation_p.K141Q	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	418					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AACCAAGAATAAAATCTCAAA	0.403																																																0													60	56	57					4																	187004092		2203	4299	6502	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1252A>C	chr4.hg19:g.187004092A>C	ENSP00000296795:p.Lys418Gln		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	hg19	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822070	0.32237	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.59083	0.29;0.29	5.78	4.59	0.56863	.	0.253731	0.46145	D	0.000313	T	0.42539	0.1207	L	0.31207	0.915	0.25382	N	0.988604	B	0.24823	0.112	B	0.29176	0.099	T	0.31998	-0.9923	10	0.37606	T	0.19	.	5.6089	0.17394	0.7025:0.1541:0.1434:0.0	.	418	O15455	TLR3_HUMAN	Q	418;418;141	ENSP00000296795:K418Q;ENSP00000423684:K141Q	ENSP00000296795:K418Q	K	+	1	0	TLR3	187241086	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.225000	0.58600	0.999000	0.39023	0.455000	0.32223	AAA		0.403	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			C	187004092	A	C	187004092	3	2	64	1	0	0	0	0	1	0	0	0	15957	363	13	5	1262	5	TLR3	4	187004092	Missense_Mutation	SNP	A	TCGA-A4-7583-01A-11D-2136-08	22757510	187004092	4150184	22	4440											
ZFR	51663	hgsc.bcm.edu	37	5	32403408	32403408	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr5:32403408G>A	ENST00000265069.8	-	8	1421	c.1319C>T	c.(1318-1320)tCa>tTa	p.S440L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	440					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTCGGCTTTGAAGCAGATAC	0.418																																																0													188	171	177					5																	32403408		2203	4300	6503	SO:0001583	missense	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1319C>T	chr5.hg19:g.32403408G>A	ENSP00000265069:p.Ser440Leu		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	hg19	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934133	0.73442	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05925	3.37	5.95	5.95	0.96441	.	0.316034	0.39210	N	0.001439	T	0.09555	0.0235	L	0.43152	1.355	0.58432	D	0.999997	B	0.26935	0.164	B	0.21917	0.037	T	0.08207	-1.0733	10	0.72032	D	0.01	.	20.3719	0.98893	0.0:0.0:1.0:0.0	.	440	Q96KR1	ZFR_HUMAN	L	440;418	ENSP00000265069:S440L	ENSP00000265069:S440L	S	-	2	0	ZFR	32439165	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.494000	0.81503	2.826000	0.97356	0.491000	0.48974	TCA		0.418	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			A	32403408	G	A	32403408	3	1	64	1	0	0	0	0	1	0	0	0	17664	1294	45	2	1957	2	ZFR	5	32403408	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08		32403408	148511852	23	4441											
PIK3R1	5295	hgsc.bcm.edu	37	5	67576767	67576767	+	Silent	SNP	T	T	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr5:67576767T>G	ENST00000521381.1	+	7	1465	c.849T>G	c.(847-849)acT>acG	p.T283T	PIK3R1_ENST00000274335.5_Silent_p.T283T|PIK3R1_ENST00000521657.1_Silent_p.T283T|PIK3R1_ENST00000396611.1_Silent_p.T283T	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	283	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CTGATAATACTGAAAACCTCA	0.328			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											53	58	57					5																	67576767		2203	4299	6502	SO:0001819	synonymous_variant	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.849T>G	chr5.hg19:g.67576767T>G			B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	ENST00000521381.1	hg19	CCDS3993.1																																																																																				0.328	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		G	67576767	T	G	67576767	2	3	64	1	0	0	0	0	0	0	0	1	11920	1567	55	5		5	PIK3R1	5	67576767	Silent	SNP	T	TCGA-A4-7583-01A-11D-2136-08	35173359	67576767	113338493	24	4442											
PAPD4	167153	hgsc.bcm.edu	37	5	78975410	78975410	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr5:78975410G>C	ENST00000296783.3	+	14	1516	c.1217G>C	c.(1216-1218)aGt>aCt	p.S406T	PAPD4_ENST00000428308.2_Missense_Mutation_p.S406T|PAPD4_ENST00000453514.1_Missense_Mutation_p.S406T|PAPD4_ENST00000504233.1_Missense_Mutation_p.S363T|PAPD4_ENST00000423041.2_Missense_Mutation_p.S402T			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	406	PAP-associated.				hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AGCTGGAATAGTCAAATGATT	0.323																																																0													106	99	102					5																	78975410		2203	4300	6503	SO:0001583	missense	167153			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1217G>C	chr5.hg19:g.78975410G>C	ENSP00000296783:p.Ser406Thr		Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	hg19	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653395	0.29425	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	6.06	4.2	0.49525	PAP/25A-associated (1);	0.512215	0.23215	N	0.050628	T	0.50701	0.1631	N	0.08118	0	0.22982	N	0.998471	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.33954	-0.9848	10	0.30854	T	0.27	-6.8279	7.1177	0.25427	0.1866:0.1805:0.6329:0.0	.	406;402;363	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	T	406;402;363;406;406	ENSP00000397563:S406T;ENSP00000393412:S402T;ENSP00000421966:S363T;ENSP00000396861:S406T;ENSP00000296783:S406T	ENSP00000296783:S406T	S	+	2	0	PAPD4	79011166	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.626000	0.37039	1.428000	0.47296	0.655000	0.94253	AGT		0.323	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		C	78975410	G	C	78975410	3	2	64	1	0	0	0	0	1	0	0	0	11426	1029	36	4	1263	4	PAPD4	5	78975410	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08	11398643	78975410	101939850	25	4443											
RDBP	7936	hgsc.bcm.edu	37	6	31922209	31922209	+	Silent	SNP	T	T	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr6:31922209T>C	ENST00000375429.3	-	8	979	c.753A>G	c.(751-753)tcA>tcG	p.S251S	NELFE_ENST00000375425.5_Silent_p.S258S|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000444811.2_Silent_p.S221S	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	251					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GTTCAGGGAATGAATCCGACC	0.483																																																0													96	90	92					6																	31922209		2203	4300	6503	SO:0001819	synonymous_variant	7936			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.753A>G	chr6.hg19:g.31922209T>C			A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	ENST00000375429.3	hg19	CCDS4730.1																																																																																				0.483	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			C	31922209	T	C	31922209	2	2	64	1	0	0	0	0	0	0	0	1	13194	1451	51	3		3	RDBP	6	31922209	Silent	SNP	T	TCGA-A4-7583-01A-11D-2136-08		31922209	139192858	26	4444											
EYS	346007	hgsc.bcm.edu	37	6	66204808	66204808	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr6:66204808T>G	ENST00000370621.3	-	4	1022	c.496A>C	c.(496-498)Aat>Cat	p.N166H	EYS_ENST00000503581.1_Missense_Mutation_p.N166H|EYS_ENST00000393380.2_Missense_Mutation_p.N166H|EYS_ENST00000342421.5_Missense_Mutation_p.N166H|EYS_ENST00000370616.2_Missense_Mutation_p.N166H|EYS_ENST00000370618.3_Missense_Mutation_p.N166H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	166					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACTGTCACATTTAGTCGAAGT	0.423																																																0													72	64	66					6																	66204808		2203	4300	6503	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.496A>C	chr6.hg19:g.66204808T>G	ENSP00000359655:p.Asn166His		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	hg19		.	.	.	.	.	.	.	.	.	.	T	16.65	3.181420	0.57800	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	4.54	3.34	0.38264	.	.	.	.	.	T	0.69824	0.3154	N	0.08118	0	0.21020	N	0.99981	P;P;P	0.49862	0.844;0.929;0.884	B;P;P	0.48030	0.383;0.564;0.51	T	0.64588	-0.6372	9	0.45353	T	0.12	.	9.2337	0.37453	0.0:0.0:0.1827:0.8173	.	166;166;166	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	H	166	ENSP00000424243:N166H;ENSP00000359655:N166H;ENSP00000359650:N166H;ENSP00000377042:N166H;ENSP00000341818:N166H;ENSP00000359652:N166H	ENSP00000341818:N166H	N	-	1	0	EYS	66261529	0.997000	0.39634	0.962000	0.40283	0.996000	0.88848	2.828000	0.48120	0.667000	0.31107	0.482000	0.46254	AAT		0.423	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	66204808	T	G	66204808	3	3	64	1	0	0	0	0	1	0	0	0	5334	1841	64	5	9060	5	EYS	6	66204808	Missense_Mutation	SNP	T	TCGA-A4-7583-01A-11D-2136-08	34282599	66204808	104910259	27	4445											
ETV1	2115	hgsc.bcm.edu	37	7	13971323	13971323	+	Silent	SNP	C	C	G	rs531769320	byFrequency	TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr7:13971323C>G	ENST00000430479.1	-	9	1273	c.606G>C	c.(604-606)acG>acC	p.T202T	ETV1_ENST00000403685.1_Silent_p.T184T|ETV1_ENST00000420159.2_Silent_p.T144T|ETV1_ENST00000405358.4_Silent_p.T216T|ETV1_ENST00000405218.2_Silent_p.T202T|ETV1_ENST00000405192.2_Silent_p.T202T|ETV1_ENST00000403527.1_Silent_p.T162T|ETV1_ENST00000399357.3_Silent_p.T99T|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000242066.5_Silent_p.T184T|ETV1_ENST00000343495.5_Silent_p.T184T	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	202					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCCTTGGCATCGTCGGCAAAG	0.502			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																		Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	0													116	112	113					7																	13971323		2010	4169	6179	SO:0001819	synonymous_variant	2115				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.606G>C	chr7.hg19:g.13971323C>G			A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	hg19	CCDS55088.1																																																																																				0.502	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		G	13971323	C	G	13971323	2	3	64	1	0	0	0	0	0	0	0	1	5279	871	31	4		4	ETV1	7	13971323	Silent	SNP	C	TCGA-A4-7583-01A-11D-2136-08		13971323	145167340	28	4446											
SUN3	256979	hgsc.bcm.edu	37	7	48035693	48035693	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr7:48035693C>T	ENST00000297325.4	-	7	787	c.628G>A	c.(628-630)Gca>Aca	p.A210T	SUN3_ENST00000453192.2_Missense_Mutation_p.A198T|SUN3_ENST00000412142.1_Missense_Mutation_p.A110T|SUN3_ENST00000395572.2_Missense_Mutation_p.A210T|SUN3_ENST00000473723.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	210	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAATTTTGCTTTATTATTT	0.299																																																0													82	87	85					7																	48035693		2203	4288	6491	SO:0001583	missense	256979			AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"Sad1 and UNC84 domain containing 1"	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.628G>A	chr7.hg19:g.48035693C>T	ENSP00000297325:p.Ala210Thr		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	hg19	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484372	0.44147	.	.	ENSG00000164744	ENST00000297325;ENST00000412371;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771	T;T;T;T;T;T	0.46063	1.83;0.88;1.84;1.83;2.42;1.84	5.25	4.37	0.52481	Sad1/UNC-like, C-terminal (1);	0.236128	0.42548	N	0.000694	T	0.35537	0.0935	L	0.49350	1.555	0.34170	D	0.669671	B;B;B	0.31503	0.047;0.326;0.192	B;B;B	0.28465	0.019;0.09;0.065	T	0.52873	-0.8517	10	0.87932	D	0	.	9.6842	0.40089	0.0:0.9039:0.0:0.0961	.	198;110;210	E7EWC8;Q8TAQ9-2;Q8TAQ9	.;.;SUN3_HUMAN	T	210;32;110;210;198;110	ENSP00000297325:A210T;ENSP00000406887:A32T;ENSP00000410204:A110T;ENSP00000378939:A210T;ENSP00000387525:A198T;ENSP00000409077:A110T	ENSP00000297325:A210T	A	-	1	0	SUN3	48002218	0.937000	0.31787	0.973000	0.42090	0.803000	0.45373	1.417000	0.34770	1.244000	0.43870	0.650000	0.86243	GCA		0.299	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		T	48035693	C	T	48035693	3	4	64	1	0	0	0	0	1	0	0	0	15398	797	28	2	461	2	SUN3	7	48035693	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08	34064370	48035693	111102970	29	4447											
PEX1	5189	hgsc.bcm.edu	37	7	92151473	92151473	+	Silent	SNP	A	A	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr7:92151473A>G	ENST00000248633.4	-	2	311	c.216T>C	c.(214-216)aaT>aaC	p.N72N	PEX1_ENST00000428214.1_Silent_p.N72N|PEX1_ENST00000438045.1_Silent_p.N72N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	72					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTTCAGCCACATTTTCACCTT	0.408																																																0													130	121	124					7																	92151473		2203	4300	6503	SO:0001819	synonymous_variant	5189			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.216T>C	chr7.hg19:g.92151473A>G			A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	hg19	CCDS5627.1																																																																																				0.408	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		G	92151473	A	G	92151473	2	3	64	1	0	0	0	0	0	0	0	1	11737	214	8	3		3	PEX1	7	92151473	Silent	SNP	A	TCGA-A4-7583-01A-11D-2136-08	44115780	92151473	66987190	30	4448											
TUSC3	7991	hgsc.bcm.edu	37	8	15508312	15508312	+	Missense_Mutation	SNP	G	G	A	rs371225890		TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr8:15508312G>A	ENST00000503731.1	+	3	563	c.415G>A	c.(415-417)Gtt>Att	p.V139I	TUSC3_ENST00000506802.1_Missense_Mutation_p.V139I|TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000382020.4_Missense_Mutation_p.V139I|TUSC3_ENST00000509380.1_Missense_Mutation_p.V139I	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	139	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GGGGACAGACGTTTTTCAGCA	0.343																																																0								G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	239	237	238		415,415	3.7	1	8		238	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	TUSC3	NM_006765.3,NM_178234.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	139/349,139/348	15508312	2,13004	2203	4300	6503	SO:0001583	missense	7991			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.415G>A	chr8.hg19:g.15508312G>A	ENSP00000424544:p.Val139Ile		A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	hg19	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809796	0.70797	0.0	2.33E-4	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.47	3.67	0.42095	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.162707	0.53938	N	0.000046	T	0.55893	0.1949	M	0.66297	2.02	0.44323	D	0.997205	D;D;D;D;D;B	0.65815	0.971;0.995;0.981;0.977;0.995;0.004	P;P;D;P;P;B	0.65010	0.838;0.771;0.931;0.613;0.784;0.007	T	0.51411	-0.8709	10	0.27082	T	0.32	-11.5841	10.6624	0.45710	0.0719:0.1325:0.7956:0.0	.	139;139;139;139;139;139	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	I	139	ENSP00000371450:V139I;ENSP00000425777:V139I;ENSP00000423426:V139I;ENSP00000424544:V139I	ENSP00000221167:V139I	V	+	1	0	TUSC3	15552683	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.654000	0.83653	0.780000	0.33566	0.563000	0.77884	GTT		0.343	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		A	15508312	G	A	15508312	3	1	64	1	0	0	0	0	1	0	0	0	16783	1145	40	1	425	1	TUSC3	8	15508312	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08		15508312	130855710	31	4449											
PSD3	23362	hgsc.bcm.edu	37	8	18430149	18430149	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr8:18430149T>A	ENST00000327040.8	-	14	2775	c.2673A>T	c.(2671-2673)aaA>aaT	p.K891N	PSD3_ENST00000523619.1_Missense_Mutation_p.K826N|PSD3_ENST00000428502.2_Missense_Mutation_p.K220N|PSD3_ENST00000286485.8_Missense_Mutation_p.K357N|PSD3_ENST00000440756.2_Missense_Mutation_p.K893N	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	892	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CACAATTGATTTTGTTTATCC	0.433																																																0													167	173	171					8																	18430149		2203	4300	6503	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2673A>T	chr8.hg19:g.18430149T>A	ENSP00000324127:p.Lys891Asn		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	hg19	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516949	0.64634	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	5.71	2.04	0.26737	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.683311	0.11566	U	0.551222	T	0.74711	0.3752	L	0.48174	1.505	0.39428	D	0.967023	B;B;B;P	0.37688	0.423;0.423;0.048;0.605	P;P;B;B	0.45946	0.498;0.498;0.061;0.388	T	0.69647	-0.5089	10	0.72032	D	0.01	.	4.8511	0.13537	0.0:0.2364:0.1485:0.615	.	891;892;357;220	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	N	891;893;357;220;826	ENSP00000324127:K891N;ENSP00000401704:K893N;ENSP00000286485:K357N;ENSP00000393228:K220N;ENSP00000430640:K826N	ENSP00000286485:K357N	K	-	3	2	PSD3	18474429	0.972000	0.33761	0.998000	0.56505	0.918000	0.54935	0.105000	0.15333	0.177000	0.19895	-0.297000	0.09499	AAA		0.433	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		A	18430149	T	A	18430149	3	1	64	1	0	0	0	0	1	0	0	0	12653	1838	64	5	482	5	PSD3	8	18430149	Missense_Mutation	SNP	T	TCGA-A4-7583-01A-11D-2136-08	2921837	18430149	127933873	32	4450											
ZNF395	55893	hgsc.bcm.edu	37	8	28206721	28206721	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr8:28206721T>C	ENST00000344423.5	-	9	1482	c.1351A>G	c.(1351-1353)Agc>Ggc	p.S451G	ZNF395_ENST00000523202.1_Missense_Mutation_p.S451G|ZNF395_ENST00000523095.1_Missense_Mutation_p.S451G	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGGGGCTCGCTGAAGCTTAGC	0.617																																																0													75	79	78					8																	28206721		2203	4300	6503	SO:0001583	missense	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1351A>G	chr8.hg19:g.28206721T>C	ENSP00000340494:p.Ser451Gly		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	hg19	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.544128	0.27563	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.46063	0.88;0.88;0.88	5.5	4.27	0.50696	.	0.318422	0.40908	D	0.001000	T	0.19046	0.0457	N	0.05487	-0.04	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.09335	-1.0679	10	0.09338	T	0.73	-15.6215	8.8687	0.35303	0.0:0.0:0.189:0.811	.	451	Q9H8N7	ZN395_HUMAN	G	451	ENSP00000340494:S451G;ENSP00000429640:S451G;ENSP00000428452:S451G	ENSP00000340494:S451G	S	-	1	0	ZNF395	28262640	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.178000	0.50879	2.099000	0.63709	0.459000	0.35465	AGC		0.617	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			C	28206721	T	C	28206721	3	2	64	1	0	0	0	0	1	0	0	0	17886	1580	55	3	198	3	ZNF395	8	28206721	Missense_Mutation	SNP	T	TCGA-A4-7583-01A-11D-2136-08	9776572	28206721	118157301	33	4451											
ARID3C	138715	hgsc.bcm.edu	37	9	34622092	34622092	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr9:34622092C>T	ENST00000378909.2	-	6	1155	c.1063G>A	c.(1063-1065)Ggg>Agg	p.G355R	DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	355	Pro-rich.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TTAAGAGGCCCATCCAGCCGC	0.517																																																0													91	84	87					9																	34622092		2203	4300	6503	SO:0001583	missense	138715				CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1063G>A	chr9.hg19:g.34622092C>T	ENSP00000368189:p.Gly355Arg			Missense_Mutation	SNP	ENST00000378909.2	hg19	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335039	0.41398	.	.	ENSG00000205143	ENST00000378909	T	0.41065	1.01	5.03	5.03	0.67393	REKLES domain (1);	0.000000	0.47093	D	0.000254	T	0.35856	0.0946	L	0.51422	1.61	0.29866	N	0.827257	P	0.39831	0.69	B	0.35727	0.209	T	0.32481	-0.9905	10	0.17369	T	0.5	-15.5988	15.9067	0.79436	0.0:1.0:0.0:0.0	.	355	A6NKF2	ARI3C_HUMAN	R	355	ENSP00000368189:G355R	ENSP00000368189:G355R	G	-	1	0	ARID3C	34612092	0.960000	0.32886	1.000000	0.80357	0.988000	0.76386	1.491000	0.35583	2.612000	0.88384	0.549000	0.68633	GGG		0.517	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		T	34622092	C	T	34622092	3	4	64	1	0	0	0	0	1	0	0	0	918	594	21	2	182	2	ARID3C	9	34622092	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08		34622092	106591339	34	4452											
RUSC2	9853	hgsc.bcm.edu	37	9	35547391	35547391	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr9:35547391G>C	ENST00000455600.1	+	2	1442	c.873G>C	c.(871-873)atG>atC	p.M291I		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	291						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACAACAAGATGCATGGCACCC	0.582																																																0													79	70	73					9																	35547391		2203	4300	6503	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.873G>C	chr9.hg19:g.35547391G>C	ENSP00000393922:p.Met291Ile		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	hg19	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339018	0.41398	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.28069	1.63;1.63	5.61	5.61	0.85477	.	0.089636	0.85682	D	0.000000	T	0.28167	0.0695	L	0.29908	0.895	0.42729	D	0.993703	B	0.24258	0.1	B	0.24541	0.054	T	0.05338	-1.0891	10	0.62326	D	0.03	-8.6538	18.6114	0.91286	0.0:0.0:1.0:0.0	.	291	Q8N2Y8	RUSC2_HUMAN	I	291	ENSP00000355177:M291I;ENSP00000393922:M291I	ENSP00000355177:M291I	M	+	3	0	RUSC2	35537391	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.341000	0.79300	2.649000	0.89929	0.561000	0.74099	ATG		0.582	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		C	35547391	G	C	35547391	3	2	64	1	0	0	0	0	1	0	0	0	13757	1319	46	4	875	4	RUSC2	9	35547391	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08	925299	35547391	105666040	35	4453											
NANS	54187	hgsc.bcm.edu	37	9	100840514	100840514	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr9:100840514A>G	ENST00000210444.5	+	4	558	c.488A>G	c.(487-489)gAc>gGc	p.D163G	TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_5'Flank	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	163					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CAGTCAATGGACACCATGAAG	0.522																																																0													229	181	197					9																	100840514		2203	4300	6503	SO:0001583	missense	54187			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.488A>G	chr9.hg19:g.100840514A>G	ENSP00000210444:p.Asp163Gly		B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	hg19	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487927	0.26686	.	.	ENSG00000095380	ENST00000210444;ENST00000415280	T;T	0.42900	0.96;0.96	5.32	1.49	0.22878	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.346769	0.36167	N	0.002757	T	0.16896	0.0406	N	0.02103	-0.685	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.05370	-1.0889	10	0.24483	T	0.36	-13.5844	11.9513	0.52956	0.5778:0.4222:0.0:0.0	.	163	Q9NR45	SIAS_HUMAN	G	163;22	ENSP00000210444:D163G;ENSP00000404107:D22G	ENSP00000210444:D163G	D	+	2	0	NANS	99880335	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	2.784000	0.47774	0.070000	0.16634	-1.293000	0.01348	GAC		0.522	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		G	100840514	A	G	100840514	3	3	64	1	0	0	0	0	1	0	0	0	10157	275	10	3	502	3	NANS	9	100840514	Missense_Mutation	SNP	A	TCGA-A4-7583-01A-11D-2136-08	65293123	100840514	40372917	36	4454											
NR6A1	2649	hgsc.bcm.edu	37	9	127316717	127316717	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr9:127316717C>A	ENST00000487099.2	-	3	432	c.275G>T	c.(274-276)cGg>cTg	p.R92L	NR6A1_ENST00000373584.3_Missense_Mutation_p.R88L|NR6A1_ENST00000344523.4_Missense_Mutation_p.R92L|NR6A1_ENST00000416460.2_Missense_Mutation_p.R88L	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	92					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TCGATATACCCGTTTGTTGCA	0.532																																					Esophageal Squamous(192;272 2884 6208 20560)											0													158	135	143					9																	127316717		2203	4300	6503	SO:0001583	missense	2649			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.275G>T	chr9.hg19:g.127316717C>A	ENSP00000420267:p.Arg92Leu		O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	hg19	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295326	0.81025	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85	5.66	5.66	0.87406	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.94588	0.8256	N	0.12887	0.27	0.80722	D	1	D;D;D	0.89917	1.0;0.986;1.0	D;D;D	0.97110	1.0;0.96;0.998	D	0.92193	0.5761	10	0.13108	T	0.6	.	18.751	0.91814	0.0:1.0:0.0:0.0	.	88;92;88	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	L	92;88;88;92;50	ENSP00000420267:R92L;ENSP00000362686:R88L;ENSP00000413701:R88L;ENSP00000341135:R92L;ENSP00000420587:R50L	ENSP00000341135:R92L	R	-	2	0	NR6A1	126356538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.802000	0.62539	2.653000	0.90120	0.563000	0.77884	CGG		0.532	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			A	127316717	C	A	127316717	3	1	64	1	0	0	0	0	1	0	0	0	10639	652	23	4	1199	4	NR6A1	9	127316717	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08	26476203	127316717	13896714	37	4455											
DOLK	22845	hgsc.bcm.edu	37	9	131708944	131708945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr9:131708944_131708945insG	ENST00000372586.3	-	1	953_954	c.638_639insC	c.(637-639)ctgfs	p.L213fs	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	213					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCACCAGTGTCAGAGAGCGCTT	0.55																																																0																																										SO:0001589	frameshift_variant	22845			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.638_639insC	chr9.hg19:g.131708944_131708945insG	ENSP00000361667:p.Leu213fs		Q5SRE6	Frame_Shift_Ins	INS	ENST00000372586.3	hg19	CCDS6915.1																																																																																				0.55	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		G	131708945	-	G	131708944	7	5	64	1	0	1	1	0	0	0	0	0	4705	813	29	0	981	0	DOLK	9	131708944	Frame_Shift_Ins	INS	-	TCGA-A4-7583-01A-11D-2136-08	4392227	131708944	9504487	38	4456											
USP6NL	9712	hgsc.bcm.edu	37	10	11523768	11523768	+	Splice_Site	SNP	C	C	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr10:11523768C>G	ENST00000609104.1	-	14	1473		c.e14+1		USP6NL_ENST00000379237.2_Splice_Site|USP6NL_ENST00000277575.5_Splice_Site	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like						Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GTAATTCTTACCAGGTTCTGG	0.368																																																0													62	60	60					10																	11523768		1820	4075	5895	SO:0001630	splice_region_variant	9712			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1078+1G>C	chr10.hg19:g.11523768C>G			A8KA79|Q15400|Q5VV10|Q7L0K9	Splice_Site	SNP	ENST00000609104.1	hg19	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280472	0.80692	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	.	.	.	5.84	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8921	0.86090	0.0:0.8719:0.1281:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP6NL	11563774	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.140000	0.77322	1.431000	0.47355	0.655000	0.94253	.		0.368	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688	Intron	G	11523768	C	G	11523768	5	3	64	1	0	0	0	0	0	0	1	0	17092	521	18	4	1415	4	USP6NL	10	11523768	Splice_Site	SNP	C	TCGA-A4-7583-01A-11D-2136-08		11523768	124010979	39	4457											
THNSL1	79896	hgsc.bcm.edu	37	10	25312238	25312238	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr10:25312238C>T	ENST00000524413.1	+	3	433	c.86C>T	c.(85-87)gCa>gTa	p.A29V	THNSL1_ENST00000376356.4_Missense_Mutation_p.A29V			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	29						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	GATAAACATGCACAGCGATTT	0.363																																																0													97	99	98					10																	25312238		2203	4300	6503	SO:0001583	missense	79896			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.86C>T	chr10.hg19:g.25312238C>T	ENSP00000434887:p.Ala29Val		B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	hg19	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	C	1.381	-0.583490	0.03827	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.07444	3.19;3.19	5.87	1.3	0.21679	.	1.328470	0.05152	N	0.496208	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37596	-0.9699	10	0.02654	T	1	-32.9386	0.8315	0.01132	0.1692:0.23:0.1664:0.4344	.	29	Q8IYQ7	THNS1_HUMAN	V	29	ENSP00000434887:A29V;ENSP00000365534:A29V	ENSP00000365534:A29V	A	+	2	0	THNSL1	25352244	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.012000	0.13287	-0.006000	0.14370	0.557000	0.71058	GCA		0.363	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		T	25312238	C	T	25312238	3	4	64	1	0	0	0	0	1	0	0	0	15867	710	25	2	88	2	THNSL1	10	25312238	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08	13788470	25312238	110222509	40	4458											
TULP3	7289	hgsc.bcm.edu	37	12	3048537	3048537	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr12:3048537A>C	ENST00000448120.2	+	11	1307	c.1256A>C	c.(1255-1257)aAc>aCc	p.N419T	TULP3_ENST00000397132.2_Missense_Mutation_p.N419T	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	419					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTGGATTACAACTACCCACTT	0.443																																																0													313	257	276					12																	3048537		2203	4300	6503	SO:0001583	missense	7289			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.1256A>C	chr12.hg19:g.3048537A>C	ENSP00000410051:p.Asn419Thr		B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	hg19	CCDS8519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.02|12.02	1.811439|1.811439	0.32053|0.32053	.|.	.|.	ENSG00000078246|ENSG00000078246	ENST00000228245;ENST00000542730;ENST00000448120;ENST00000397132|ENST00000541678;ENST00000538704	D;D|.	0.85088|.	-1.94;-1.94|.	5.64|5.64	1.97|1.97	0.26223|0.26223	Tubby, C-terminal (3);|.	0.134805|.	0.64402|.	D|.	0.000003|.	T|T	0.52661|0.52661	0.1748|0.1748	L|L	0.42487|0.42487	1.325|1.325	0.47214|0.47214	D|D	0.999359|0.999359	B;B;B|.	0.34161|.	0.051;0.078;0.439|.	B;B;B|.	0.40982|.	0.14;0.345;0.332|.	T|T	0.36138|0.36138	-0.9760|-0.9760	9|5	.|.	.|.	.|.	1.337|1.337	8.4366|8.4366	0.32791|0.32791	0.7077:0.0:0.2923:0.0|0.7077:0.0:0.2923:0.0	.|.	243;419;419|.	B7Z1E7;O75386;F8WBZ9|.	.;TULP3_HUMAN;.|.	T|H	419;243;419;419|95;84	ENSP00000410051:N419T;ENSP00000380321:N419T|.	.|.	N|Q	+|+	2|3	0|2	TULP3|TULP3	2918798|2918798	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.640000|0.640000	0.38277|0.38277	1.203000|1.203000	0.32284|0.32284	0.089000|0.089000	0.17243|0.17243	-0.589000|-0.589000	0.04120|0.04120	AAC|CAA		0.443	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		C	3048537	A	C	3048537	3	2	64	1	0	0	0	0	1	0	0	0	16780	43	2	5	1298	5	TULP3	12	3048537	Missense_Mutation	SNP	A	TCGA-A4-7583-01A-11D-2136-08		3048537	130803358	41	4459											
HEBP1	50865	hgsc.bcm.edu	37	12	13142261	13142261	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr12:13142261C>A	ENST00000014930.4	-	2	325	c.167G>T	c.(166-168)cGg>cTg	p.R56L	HEBP1_ENST00000536942.1_Missense_Mutation_p.R56L	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	56					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CATTGCTTCCCGTAGAGCCTC	0.542																																																0													203	153	170					12																	13142261		2203	4300	6503	SO:0001583	missense	50865			AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"Endogenous ligands"	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.167G>T	chr12.hg19:g.13142261C>A	ENSP00000014930:p.Arg56Leu		A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	hg19	CCDS31749.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385915	0.42308	.	.	ENSG00000013583	ENST00000014930;ENST00000536942	T;T	0.22743	1.94;1.94	6.02	3.89	0.44902	Regulatory factor, effector, bacterial (1);	0.389996	0.27749	N	0.018006	T	0.21307	0.0513	M	0.62723	1.935	0.20926	N	0.999824	B	0.28850	0.225	B	0.34242	0.178	T	0.13710	-1.0499	10	0.22706	T	0.39	-10.7345	7.1904	0.25822	0.0:0.676:0.0:0.324	.	56	Q9NRV9	HEBP1_HUMAN	L	56	ENSP00000014930:R56L;ENSP00000441678:R56L	ENSP00000014930:R56L	R	-	2	0	HEBP1	13033528	0.760000	0.28428	0.984000	0.44739	0.971000	0.66376	2.083000	0.41615	1.554000	0.49487	0.650000	0.86243	CGG		0.542	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			A	13142261	C	A	13142261	3	1	64	1	0	0	0	0	1	0	0	0	7038	652	23	4	414	4	HEBP1	12	13142261	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08	10093724	13142261	120709634	42	4460											
HOXC11	3227	hgsc.bcm.edu	37	12	54367330	54367330	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr12:54367330G>T	ENST00000546378.1	+	1	421	c.305G>T	c.(304-306)cGg>cTg	p.R102L	HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.R102L			O43248	HXC11_HUMAN	homeobox C11	102					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						CTTATGCACCGGGAGTGCCTG	0.672			T	NUP98	AML																																		Dom	yes		12	12q13.3	3227	homeo box C11		L	0													94	106	102					12																	54367330		2203	4300	6503	SO:0001583	missense	3227				CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.305G>T	chr12.hg19:g.54367330G>T	ENSP00000446680:p.Arg102Leu		A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	hg19	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280254	0.80692	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.59083	0.29;0.29	4.31	4.31	0.51392	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.83483	2.645	0.58432	D	0.999996	D	0.76494	0.999	D	0.79108	0.992	T	0.81922	-0.0711	10	0.87932	D	0	.	16.0846	0.81031	0.0:0.0:1.0:0.0	.	102	O43248	HXC11_HUMAN	L	102	ENSP00000446680:R102L;ENSP00000243082:R102L	ENSP00000243082:R102L	R	+	2	0	HOXC11	52653597	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.221000	0.95188	2.386000	0.81285	0.555000	0.69702	CGG		0.672	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			T	54367330	G	T	54367330	3	4	64	1	0	0	0	0	1	0	0	0	7312	1116	39	4	307	4	HOXC11	12	54367330	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08	41225069	54367330	79484565	43	4461											
ACAD10	80724	hgsc.bcm.edu	37	12	112183962	112183962	+	Silent	SNP	T	T	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr12:112183962T>C	ENST00000313698.4	+	14	2285	c.2130T>C	c.(2128-2130)gcT>gcC	p.A710A	ACAD10_ENST00000392636.2_Silent_p.A312A|ACAD10_ENST00000455480.2_Silent_p.A741A|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	710						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AAGCCAAAGCTGAAGGACTTT	0.433																																																0													88	88	88					12																	112183962		2203	4300	6503	SO:0001819	synonymous_variant	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2130T>C	chr12.hg19:g.112183962T>C			G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	hg19	CCDS31903.1																																																																																				0.433	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		C	112183962	T	C	112183962	2	2	64	1	0	0	0	0	0	0	0	1	108	1567	55	3		3	ACAD10	12	112183962	Silent	SNP	T	TCGA-A4-7583-01A-11D-2136-08	57816632	112183962	21667933	44	4462											
GAS6	2621	hgsc.bcm.edu	37	13	114523928	114523928	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr13:114523928T>C	ENST00000327773.6	-	15	2092	c.1946A>G	c.(1945-1947)aAc>aGc	p.N649S	GAS6_ENST00000450766.1_Missense_Mutation_p.N376S|GAS6_ENST00000357389.3_Missense_Mutation_p.N692S|GAS6_ENST00000418959.3_Missense_Mutation_p.N350S|GAS6_ENST00000355761.4_Missense_Mutation_p.N595S|GAS6-AS1_ENST00000458001.1_RNA	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	692	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CAGCCTCCGGTTGACCTCCAG	0.662																																																0													51	45	47					13																	114523928		2202	4299	6501	SO:0001583	missense	2621				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1946A>G	chr13.hg19:g.114523928T>C	ENSP00000331831:p.Asn649Ser		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	hg19	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901729	0.33535	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	4.72	3.54	0.40534	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.79924	0.4530	M	0.83223	2.63	0.44547	D	0.997504	P;B;B	0.41214	0.742;0.015;0.1	B;B;B	0.32864	0.154;0.026;0.01	T	0.78204	-0.2295	9	0.62326	D	0.03	-27.6441	8.071	0.30689	0.0:0.1832:0.0:0.8168	.	692;376;649	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	S	692;595;376;350;649	ENSP00000349962:N692S;ENSP00000348003:N595S;ENSP00000416498:N376S;ENSP00000400117:N350S;ENSP00000331831:N649S	ENSP00000331831:N649S	N	-	2	0	GAS6	113590015	0.993000	0.37304	0.858000	0.33744	0.120000	0.20174	2.505000	0.45424	0.664000	0.31047	0.379000	0.24179	AAC		0.662	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		C	114523928	T	C	114523928	3	2	64	1	0	0	0	0	1	0	0	0	6251	1725	60	3	94	3	GAS6	13	114523928	Missense_Mutation	SNP	T	TCGA-A4-7583-01A-11D-2136-08		114523928	645950	45	4463											
RBM23	55147	hgsc.bcm.edu	37	14	23374814	23374814	+	Splice_Site	SNP	C	C	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr14:23374814C>G	ENST00000359890.3	-	6	651		c.e6+1		RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000542016.2_Splice_Site|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000555209.1_Intron|RBM23_ENST00000346528.5_Intron	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23						mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TATCAACCCACCTGACTGGGC	0.378																																																0													90	80	83					14																	23374814		1844	4103	5947	SO:0001630	splice_region_variant	55147			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"RNA binding motif (RRM) containing"	20155	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen recep- tors beta"		"RNA-binding region (RNP1, RRM) containing 4"	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.455+1G>C	chr14.hg19:g.23374814C>G			D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Splice_Site	SNP	ENST00000359890.3	hg19	CCDS41921.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065110	0.55432	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922	.	.	.	4.88	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2615	0.54652	0.0:0.9161:0.0:0.0839	.	.	.	.	.	-1	.	.	.	-	.	.	RBM23	22444654	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	3.163000	0.50763	1.422000	0.47177	0.655000	0.94253	.		0.378	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3		Intron	G	23374814	C	G	23374814	5	3	64	1	0	0	0	0	0	0	1	0	13129	521	18	4	899	4	RBM23	14	23374814	Splice_Site	SNP	C	TCGA-A4-7583-01A-11D-2136-08		23374814	83974726	46	4464											
SMG1	23049	hgsc.bcm.edu	37	16	18840922	18840922	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr16:18840922G>T	ENST00000446231.2	-	54	9701	c.9289C>A	c.(9289-9291)Cta>Ata	p.L3097I	SMG1_ENST00000389467.3_Missense_Mutation_p.L3097I			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3097					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGGTTGGGTAGCCCTATCAAG	0.468																																																0													58	57	57					16																	18840922		1905	4128	6033	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9289C>A	chr16.hg19:g.18840922G>T	ENSP00000402515:p.Leu3097Ile		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	hg19	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510741	0.44660	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01005	5.45;5.45	6.07	5.11	0.69529	.	0.000000	0.53938	D	0.000041	T	0.00875	0.0029	N	0.12182	0.205	0.41248	D	0.986699	B	0.13145	0.007	B	0.15484	0.013	T	0.67565	-0.5638	10	0.20519	T	0.43	.	16.7418	0.85461	0.0:0.0:0.8697:0.1303	.	3097	Q96Q15	SMG1_HUMAN	I	3097	ENSP00000402515:L3097I;ENSP00000374118:L3097I	ENSP00000374118:L3097I	L	-	1	2	SMG1	18748423	1.000000	0.71417	0.831000	0.32960	0.967000	0.64934	6.417000	0.73337	1.558000	0.49541	0.585000	0.79938	CTA		0.468	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		T	18840922	G	T	18840922	3	4	64	1	0	0	0	0	1	0	0	0	14801	962	34	4	1736	4	SMG1	16	18840922	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08		18840922	71513831	47	4465											
FTSJD1	55783	hgsc.bcm.edu	37	16	71317552	71317552	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr16:71317552C>T	ENST00000338099.5	-	3	2608	c.2272G>A	c.(2272-2274)Gag>Aag	p.E758K	CMTR2_ENST00000434935.2_Missense_Mutation_p.E758K			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	758					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TCTTCTCTCTCTCTTTGAATA	0.373																																																0													38	42	41					16																	71317552		2198	4300	6498	SO:0001583	missense	55783			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.2272G>A	chr16.hg19:g.71317552C>T	ENSP00000337512:p.Glu758Lys		B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	hg19	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507361	0.44558	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.15603	2.41;2.41	5.8	4.8	0.61643	.	0.225081	0.35677	N	0.003053	T	0.09555	0.0235	N	0.17082	0.46	0.32079	N	0.593443	B	0.21071	0.051	B	0.17979	0.02	T	0.07214	-1.0784	10	0.27785	T	0.31	-35.113	7.8477	0.29435	0.0:0.6486:0.2684:0.083	.	758	Q8IYT2	FTSJ1_HUMAN	K	758	ENSP00000337512:E758K;ENSP00000411148:E758K	ENSP00000337512:E758K	E	-	1	0	FTSJD1	69875053	0.991000	0.36638	1.000000	0.80357	0.802000	0.45316	1.495000	0.35627	2.741000	0.93983	0.585000	0.79938	GAG		0.373	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		T	71317552	C	T	71317552	3	4	64	1	0	0	0	0	1	0	0	0	6092	922	32	2	44	2	FTSJD1	16	71317552	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08	52476630	71317552	19037201	48	4466											
PLCG2	5336	hgsc.bcm.edu	37	16	81990321	81990321	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr16:81990321T>G	ENST00000359376.3	+	32	3806	c.3592T>G	c.(3592-3594)Tcc>Gcc	p.S1198A		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1198					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGAACTTTACTCCTCCTGTCG	0.527																																																0													59	61	61					16																	81990321		1979	4160	6139	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3592T>G	chr16.hg19:g.81990321T>G	ENSP00000352336:p.Ser1198Ala		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	hg19	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	T	9.506	1.104525	0.20632	.	.	ENSG00000197943	ENST00000359376	T	0.65732	-0.17	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	L	0.52573	1.65	0.45205	D	0.998216	B	0.16166	0.016	B	0.12156	0.007	T	0.50224	-0.8853	10	0.10111	T	0.7	.	13.9529	0.64129	0.0:0.0:0.0:1.0	.	1198	P16885	PLCG2_HUMAN	A	1198	ENSP00000352336:S1198A	ENSP00000352336:S1198A	S	+	1	0	PLCG2	80547822	0.988000	0.35896	0.980000	0.43619	0.866000	0.49608	2.961000	0.49168	2.106000	0.64143	0.454000	0.30748	TCC		0.527	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			G	81990321	T	G	81990321	3	3	64	1	0	0	0	0	1	0	0	0	12038	1551	54	5	3714	5	PLCG2	16	81990321	Missense_Mutation	SNP	T	TCGA-A4-7583-01A-11D-2136-08	10672769	81990321	8364432	49	4467											
CRLF3	51379	hgsc.bcm.edu	37	17	29119514	29119514	+	Silent	SNP	C	C	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr17:29119514C>A	ENST00000324238.6	-	6	1027	c.903G>T	c.(901-903)tcG>tcT	p.S301S	CRLF3_ENST00000577725.1_Intron|CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000544695.1_Silent_p.S185S	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	301					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)		p.S301S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				AGAGAACACCCGATGATTCAG	0.433																																					Pancreas(30;346 881 29244 33464 41299)											1	Substitution - coding silent(1)	lung(1)											153	147	149					17																	29119514		2203	4300	6503	SO:0001819	synonymous_variant	51379			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.903G>T	chr17.hg19:g.29119514C>A			A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Silent	SNP	ENST00000324238.6	hg19	CCDS32607.1																																																																																				0.433	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			A	29119514	C	A	29119514	2	1	64	1	0	0	0	0	0	0	0	1	3890	639	23	4		4	CRLF3	17	29119514	Silent	SNP	C	TCGA-A4-7583-01A-11D-2136-08		29119514	52075696	50	4468											
ZNHIT3	9326	hgsc.bcm.edu	37	17	34849806	34849806	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr17:34849806A>G	ENST00000225410.4	+	4	307	c.242A>G	c.(241-243)gAt>gGt	p.D81G	ZNHIT3_ENST00000592616.1_Missense_Mutation_p.D81G|ZNHIT3_ENST00000490126.2_5'UTR|RNA5SP439_ENST00000517103.1_RNA|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000588253.1_5'UTR	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	81					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		CTCAATAGTGATGAGGAAGAA	0.373																																					Pancreas(89;112 2361 26810)											0													152	148	149					17																	34849806		2203	4300	6503	SO:0001583	missense	9326			L40410	CCDS11312.1, CCDS62156.1	17q21.1	2014-04-10	2010-09-15	2005-09-08	ENSG00000108278	ENSG00000273611		"Zinc fingers, HIT-type"	12309	protein-coding gene	gene with protein product		604500	"thyroid hormone receptor interactor 3", "zinc finger, HIT type 3"	TRIP3		7776974	Standard	NM_004773		Approved		uc002hms.1	Q15649	OTTHUMG00000188436	ENST00000225410.4:c.242A>G	chr17.hg19:g.34849806A>G	ENSP00000225410:p.Asp81Gly		A8K493|K7EQP1|Q8WVJ3	Missense_Mutation	SNP	ENST00000225410.4	hg19	CCDS11312.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.700781	0.30142	.	.	ENSG00000108278	ENST00000225410	.	.	.	6.02	4.94	0.65067	.	0.084595	0.85682	D	0.000000	T	0.69584	0.3127	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.68387	-0.5422	9	0.37606	T	0.19	-14.422	9.5969	0.39580	0.8443:0.0:0.0:0.1557	.	81	Q15649	ZNHI3_HUMAN	G	81	.	ENSP00000225410:D81G	D	+	2	0	ZNHIT3	31923919	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	5.963000	0.70372	1.084000	0.41184	-0.327000	0.08410	GAT		0.373	ZNHIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256697.1	NM_004773		G	34849806	A	G	34849806	3	3	64	1	0	0	0	0	1	0	0	0	18213	333	12	3	256	3	ZNHIT3	17	34849806	Missense_Mutation	SNP	A	TCGA-A4-7583-01A-11D-2136-08	5730292	34849806	46345404	51	4469											
DLX3	1747	hgsc.bcm.edu	37	17	48072053	48072053	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr17:48072053G>C	ENST00000434704.2	-	1	535	c.310C>G	c.(310-312)Cca>Gca	p.P104A	RP11-1094H24.3_ENST00000511867.1_lincRNA|DLX3_ENST00000512495.2_5'Flank	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	104					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TCCTGGGCTGGCAGCGGCTGC	0.622																																																0													22	28	26					17																	48072053		2195	4295	6490	SO:0001583	missense	1747				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.310C>G	chr17.hg19:g.48072053G>C	ENSP00000389870:p.Pro104Ala		B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	hg19	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222006	0.39300	.	.	ENSG00000064195	ENST00000434704	D	0.91945	-2.94	5.01	5.01	0.66863	Homeodomain-like (1);	0.078892	0.53938	D	0.000057	D	0.86029	0.5835	N	0.21240	0.645	0.80722	D	1	B	0.11235	0.004	B	0.24006	0.05	T	0.80538	-0.1338	10	0.24483	T	0.36	-29.5674	13.6755	0.62451	0.0:0.0:1.0:0.0	.	104	O60479	DLX3_HUMAN	A	104	ENSP00000389870:P104A	ENSP00000389870:P104A	P	-	1	0	DLX3	45427052	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.079000	0.57613	2.617000	0.88574	0.491000	0.48974	CCA		0.622	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			C	48072053	G	C	48072053	3	2	64	1	0	0	0	0	1	0	0	0	4574	1203	42	4	565	4	DLX3	17	48072053	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08	13222247	48072053	33123157	52	4470											
TBCD	6904	hgsc.bcm.edu	37	17	80885835	80885835	+	Silent	SNP	G	G	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr17:80885835G>C	ENST00000355528.4	+	30	2794	c.2664G>C	c.(2662-2664)cgG>cgC	p.R888R	TBCD_ENST00000539345.2_Silent_p.R888R	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	888					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGCTGGCTCGGAGCCAGCCTG	0.642																																																0													57	60	59					17																	80885835		2056	4211	6267	SO:0001819	synonymous_variant	6904			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2664G>C	chr17.hg19:g.80885835G>C			O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	hg19	CCDS45818.1																																																																																				0.642	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		C	80885835	G	C	80885835	2	2	64	1	0	0	0	0	0	0	0	1	15638	1161	41	4		4	TBCD	17	80885835	Silent	SNP	G	TCGA-A4-7583-01A-11D-2136-08	32813782	80885835	309375	53	4471											
NPC1	4864	hgsc.bcm.edu	37	18	21128030	21128030	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr18:21128030G>T	ENST00000269228.5	-	11	2251	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Intron	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	566					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)					ATTATTGACAGGGAAGGTAAT	0.423																																																0													153	147	149					18																	21128030		2203	4300	6503	SO:0001583	missense	4864			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.1697C>A	chr18.hg19:g.21128030G>T	ENSP00000269228:p.Pro566His		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	hg19	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682504	0.88542	.	.	ENSG00000141458	ENST00000269228;ENST00000540608	D	0.93811	-3.29	5.72	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.95906	0.8667	M	0.81942	2.565	0.80722	D	1	D	0.63880	0.993	P	0.58928	0.848	D	0.96104	0.9071	10	0.66056	D	0.02	-8.8197	14.813	0.70010	0.0692:0.0:0.9308:0.0	.	566	O15118	NPC1_HUMAN	H	566;411	ENSP00000269228:P566H	ENSP00000269228:P566H	P	-	2	0	NPC1	19382028	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.865000	0.87049	1.417000	0.47077	0.563000	0.77884	CCT		0.423	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		T	21128030	G	T	21128030	3	4	64	1	0	0	0	0	1	0	0	0	10572	1000	35	4	2199	4	NPC1	18	21128030	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08		21128030	56949218	54	4472											
RNF165	494470	hgsc.bcm.edu	37	18	44013351	44013353	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr18:44013351_44013353delCCC	ENST00000269439.7	+	2	311_313	c.260_262delCCC	c.(259-264)accctg>atg	p.87_88TL>M	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	87							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCGCTGCCCACCCTGCAGTTCCA	0.7																																																0																																										SO:0001651	inframe_deletion	494470			BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"RING-type (C3HC4) zinc fingers"	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.260_262delCCC	chr18.hg19:g.44013351_44013353delCCC	ENSP00000269439:p.Thr87_Leu88delinsMet		B3KVD1	In_Frame_Del	DEL	ENST00000269439.7	hg19	CCDS32823.1																																																																																				0.7	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		-	44013353	CCC	-	44013351	7	5	64	1	0	1	0	1	0	0	0	0	13462	507	18	0	266	0	RNF165	18	44013351	In_Frame_Del	DEL	CCC	TCGA-A4-7583-01A-11D-2136-08	22885321	44013351	34063897	55	4473	47	2									
RNF165	494470	hgsc.bcm.edu	37	18	44013357	44013357	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr18:44013357A>G	ENST00000269439.7	+	2	317	c.266A>G	c.(265-267)cAg>cGg	p.Q89R	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	89							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCCACCCTGCAGTTCCAGGAC	0.697																																																0													35	34	34					18																	44013357		2203	4300	6503	SO:0001583	missense	494470			BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"RING-type (C3HC4) zinc fingers"	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.266A>G	chr18.hg19:g.44013357A>G	ENSP00000269439:p.Gln89Arg		B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	hg19	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	A	9.420	1.082835	0.20309	.	.	ENSG00000141622	ENST00000269439	T	0.18657	2.2	5.48	4.27	0.50696	.	0.146503	0.47093	D	0.000241	T	0.18676	0.0448	L	0.47716	1.5	0.80722	D	1	B	0.26445	0.149	B	0.28784	0.094	T	0.03717	-1.1010	10	0.12766	T	0.61	-5.9439	13.0518	0.58958	0.8124:0.1876:0.0:0.0	.	89	Q6ZSG1	RN165_HUMAN	R	89	ENSP00000269439:Q89R	ENSP00000269439:Q89R	Q	+	2	0	RNF165	42267355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.579000	0.46059	2.086000	0.62901	0.455000	0.32223	CAG		0.697	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		G	44013357	A	G	44013357	3	3	64	1	0	0	0	0	1	0	0	0	13462	188	7	3	272	3	RNF165	18	44013357	Missense_Mutation	SNP	A	TCGA-A4-7583-01A-11D-2136-08	6	44013357	34063891	56	4474	47	2									
ABCA7	10347	hgsc.bcm.edu	37	19	1062293	1062293	+	Missense_Mutation	SNP	C	C	A	rs144378856		TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:1062293C>A	ENST00000263094.6	+	42	5924	c.5693C>A	c.(5692-5694)cCg>cAg	p.P1898Q	ABCA7_ENST00000433129.1_Missense_Mutation_p.P1898Q|ABCA7_ENST00000435683.2_Missense_Mutation_p.P1760Q	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1898	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGTGTCCCGGAGGCCCAG	0.677																																																0													78	86	83					19																	1062293		2203	4296	6499	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5693C>A	chr19.hg19:g.1062293C>A	ENSP00000263094:p.Pro1898Gln		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952395	0.34471	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.96396	-4.0;-4.0	3.4	2.34	0.29019	ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	D	0.96827	0.8964	L	0.56280	1.765	0.33986	D	0.648578	D;P	0.89917	1.0;0.941	D;P	0.83275	0.996;0.787	D	0.96923	0.9675	9	0.87932	D	0	.	9.6915	0.40131	0.0:0.8916:0.0:0.1084	.	1023;1898	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	Q	1898	ENSP00000263094:P1898Q;ENSP00000414062:P1898Q	ENSP00000263094:P1898Q	P	+	2	0	ABCA7	1013293	0.620000	0.27068	0.034000	0.17996	0.151000	0.21798	2.777000	0.47717	0.628000	0.30357	0.555000	0.69702	CCG		0.677	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1062293	C	A	1062293	3	1	64	1	0	0	0	0	1	0	0	0	37	652	23	4	5855	4	ABCA7	19	1062293	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08		1062293	58066690	57	4475											
MUC16	94025	hgsc.bcm.edu	37	19	9061598	9061598	+	Silent	SNP	A	A	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:9061598A>G	ENST00000397910.4	-	3	26051	c.25848T>C	c.(25846-25848)ccT>ccC	p.P8616P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8618	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAAATTTGGAGGTGAACTGG	0.483																																																0													143	133	136					19																	9061598		2004	4163	6167	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25848T>C	chr19.hg19:g.9061598A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	hg19	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9061598	A	G	9061598	2	3	64	1	0	0	0	0	0	0	0	1	9975	291	11	3		3	MUC16	19	9061598	Silent	SNP	A	TCGA-A4-7583-01A-11D-2136-08	7999305	9061598	50067385	58	4476											
LDLR	3949	hgsc.bcm.edu	37	19	11216253	11216253	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:11216253A>C	ENST00000558518.1	+	4	858	c.671A>C	c.(670-672)gAc>gCc	p.D224A	LDLR_ENST00000455727.2_Intron|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.D224A|LDLR_ENST00000535915.1_Missense_Mutation_p.D183A|LDLR_ENST00000557933.1_Missense_Mutation_p.D224A	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	224	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.		D -> G (in Italy-2).|D -> N (in Portugal).|D -> V (in FH; Cologne patient). {ECO:0000269|PubMed:7649546}.		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GACTGCAAGGACAAATCTGAC	0.647																																					GBM(18;201 575 7820 21545)											1	Unknown(1)	lung(1)	GRCh37	CM920421|CM950756|CM994425	LDLR	M							31	36	34					19																	11216253		2202	4299	6501	SO:0001583	missense	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.671A>C	chr19.hg19:g.11216253A>C	ENSP00000454071:p.Asp224Ala		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	hg19	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301164	0.81136	.	.	ENSG00000130164	ENST00000252444;ENST00000535915	D;D	0.99220	-5.58;-4.44	5.6	5.6	0.85130	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000010	D	0.99677	0.9879	H	0.98407	4.225	0.80722	D	1	P;D;D;D	0.71674	0.917;0.998;0.996;0.998	D;D;D;D	0.83275	0.92;0.996;0.99;0.99	D	0.97323	0.9945	10	0.87932	D	0	.	14.7566	0.69569	1.0:0.0:0.0:0.0	.	103;183;236;224	B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;LDLR_HUMAN	A	224;183	ENSP00000252444:D224A;ENSP00000440520:D183A	ENSP00000252444:D224A	D	+	2	0	LDLR	11077253	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	9.228000	0.95250	2.139000	0.66308	0.482000	0.46254	GAC		0.647	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			C	11216253	A	C	11216253	3	2	64	1	0	0	0	0	1	0	0	0	8706	275	10	5	685	5	LDLR	19	11216253	Missense_Mutation	SNP	A	TCGA-A4-7583-01A-11D-2136-08	2154655	11216253	47912730	59	4477											
AP1M1	8907	hgsc.bcm.edu	37	19	16339616	16339616	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:16339616C>G	ENST00000291439.3	+	9	1373	c.924C>G	c.(922-924)aaC>aaG	p.N308K	AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.N320K|AP1M1_ENST00000541844.1_Missense_Mutation_p.N236K|AP1M1_ENST00000590756.1_Missense_Mutation_p.N236K	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	308	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CAACAGCCAACAACGTGGAGA	0.617																																																0													173	116	135					19																	16339616		2203	4300	6503	SO:0001583	missense	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.924C>G	chr19.hg19:g.16339616C>G	ENSP00000291439:p.Asn308Lys		Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	hg19	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429106	0.83667	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844	T;T;T	0.18502	2.21;2.21;2.21	3.64	3.64	0.41730	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.39901	-0.9591	10	0.62326	D	0.03	-49.532	14.4911	0.67651	0.0:1.0:0.0:0.0	.	320;308	Q4TTY5;Q9BXS5	.;AP1M1_HUMAN	K	320;308;236	ENSP00000388996:N320K;ENSP00000291439:N308K;ENSP00000445682:N236K	ENSP00000291439:N308K	N	+	3	2	AP1M1	16200616	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.764000	0.55264	1.871000	0.54225	0.561000	0.74099	AAC		0.617	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		G	16339616	C	G	16339616	3	3	64	1	0	0	0	0	1	0	0	0	734	477	17	4	998	4	AP1M1	19	16339616	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08	5123363	16339616	42789367	60	4478											
ZNF737	100129842	hgsc.bcm.edu	37	19	20728254	20728254	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:20728254C>G	ENST00000427401.4	-	4	849	c.755G>C	c.(754-756)aGt>aCt	p.S252T		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCACTATGAATTAT	0.403																																																0													34	34	34					19																	20728254		692	1591	2283	SO:0001583	missense	100129842			BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.755G>C	chr19.hg19:g.20728254C>G	ENSP00000395733:p.Ser252Thr		C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	hg19	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.857622	0.00065	.	.	ENSG00000237440	ENST00000427401	T	0.12879	2.64	0.1	-0.2	0.13216	.	.	.	.	.	T	0.03871	0.0109	N	0.03050	-0.425	0.24703	N	0.993244	B	0.02656	0.0	B	0.06405	0.002	T	0.41413	-0.9510	9	0.02654	T	1	.	5.4374	0.16488	0.0:0.645:0.355:0.0	.	252	C9JHM3	.	T	252	ENSP00000395733:S252T	ENSP00000395733:S252T	S	-	2	0	ZNF737	20520094	0.066000	0.20996	0.041000	0.18516	0.041000	0.13682	0.057000	0.14279	-1.260000	0.02465	-1.278000	0.01390	AGT		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		G	20728254	C	G	20728254	3	3	64	1	0	0	0	0	1	0	0	0	18131	565	20	4	859	4	ZNF737	19	20728254	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08	4388638	20728254	38400729	61	4479											
ZNF430	80264	hgsc.bcm.edu	37	19	21240182	21240182	+	Silent	SNP	A	A	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:21240182A>G	ENST00000261560.5	+	5	1249	c.1068A>G	c.(1066-1068)caA>caG	p.Q356Q	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	356					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q356Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTTTAACCAATCCTCAACCC	0.383																																																1	Substitution - coding silent(1)	lung(1)											53	57	56					19																	21240182		2201	4290	6491	SO:0001819	synonymous_variant	80264			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1068A>G	chr19.hg19:g.21240182A>G			Q86V70	Silent	SNP	ENST00000261560.5	hg19	CCDS32978.1																																																																																				0.383	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		G	21240182	A	G	21240182	2	3	64	1	0	0	0	0	0	0	0	1	17909	98	4	3		3	ZNF430	19	21240182	Silent	SNP	A	TCGA-A4-7583-01A-11D-2136-08	511928	21240182	37888801	62	4480											
SAMD4B	55095	hgsc.bcm.edu	37	19	39868382	39868391	+	Frame_Shift_Del	DEL	TCCCACTGAT	TCCCACTGAT	-	rs149585231		TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	TCCCACTGAT	TCCCACTGAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:39868382_39868391delTCCCACTGAT	ENST00000314471.6	+	10	2397_2406	c.1362_1371delTCCCACTGAT	c.(1360-1371)gctcccactgatfs	p.APTD454fs	SAMD4B_ENST00000598913.1_Frame_Shift_Del_p.APTD454fs|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGCTCCAGCTCCCACTGATGGCAGTGAGC	0.648																																																0																																										SO:0001589	frameshift_variant	55095				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1362_1371delTCCCACTGAT	chr19.hg19:g.39868382_39868391delTCCCACTGAT	ENSP00000317224:p.Ala454fs		A5Z0M6|Q6P194	Frame_Shift_Del	DEL	ENST00000314471.6	hg19	CCDS33020.1																																																																																				0.648	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		-	39868391	TCCCACTGAT	-	39868382	7	5	64	1	0	1	0	1	0	0	0	0	13828	1538	54	0	1384	0	SAMD4B	19	39868382	Frame_Shift_Del	DEL	TCCCACTGAT	TCGA-A4-7583-01A-11D-2136-08	18628200	39868382	19260601	63	4481											
FCGBP	8857	hgsc.bcm.edu	37	19	40362919	40362919	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:40362919C>A	ENST00000221347.6	-	32	15158	c.15151G>T	c.(15151-15153)Ggg>Tgg	p.G5051W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5051	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGAGCTGCCCGCAGGCCTCG	0.672																																																0													46	53	50					19																	40362919		2203	4299	6502	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15151G>T	chr19.hg19:g.40362919C>A	ENSP00000221347:p.Gly5051Trp		O95784	Missense_Mutation	SNP	ENST00000221347.6	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656182	0.47467	.	.	ENSG00000090920	ENST00000221347	T	0.78003	-1.14	4.84	4.84	0.62591	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.64402	U	0.000001	D	0.90359	0.6983	M	0.92649	3.33	0.40754	D	0.982949	D	0.89917	1.0	D	0.97110	1.0	D	0.92815	0.6267	10	0.87932	D	0	.	14.9744	0.71261	0.0:1.0:0.0:0.0	.	5051	Q9Y6R7	FCGBP_HUMAN	W	5051	ENSP00000221347:G5051W	ENSP00000221347:G5051W	G	-	1	0	FCGBP	45054759	0.047000	0.20315	0.851000	0.33527	0.103000	0.19146	1.926000	0.40084	2.521000	0.84997	0.462000	0.41574	GGG		0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40362919	C	A	40362919	3	1	64	1	0	0	0	0	1	0	0	0	5780	652	23	4	1086	4	FCGBP	19	40362919	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08	494537	40362919	18766064	64	4482											
ZNF577	84765	hgsc.bcm.edu	37	19	52376753	52376753	+	Missense_Mutation	SNP	C	C	A	rs200063901		TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:52376753C>A	ENST00000301399.5	-	7	855	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.G105W|ZNF577_ENST00000451628.2_Missense_Mutation_p.G105W	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAGGCTCTCCCGCACACACTG	0.443																																																0													135	130	132					19																	52376753		2203	4300	6503	SO:0001583	missense	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.490G>T	chr19.hg19:g.52376753C>A	ENSP00000301399:p.Gly164Trp		A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	hg19	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	10.17	1.275338	0.23307	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	3.1	2.04	0.26737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83142	0.5190	H	0.98507	4.25	0.27641	N	0.947716	D;D	0.89917	1.0;0.996	D;P	0.87578	0.998;0.784	T	0.73902	-0.3836	9	0.87932	D	0	.	9.3367	0.38054	0.0:0.8873:0.0:0.1127	.	164;105	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	W	164;105;105;164	ENSP00000301399:G164W;ENSP00000413476:G105W;ENSP00000389652:G105W;ENSP00000404509:G164W	ENSP00000301399:G164W	G	-	1	0	ZNF577	57068565	0.001000	0.12720	0.027000	0.17364	0.014000	0.08584	1.074000	0.30703	0.611000	0.30052	0.655000	0.94253	GGG		0.443	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		A	52376753	C	A	52376753	3	1	64	1	0	0	0	0	1	0	0	0	18014	652	23	4	971	4	ZNF577	19	52376753	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08	12013834	52376753	6752230	65	4483											
UBOX5	22888	hgsc.bcm.edu	37	20	3102965	3102965	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr20:3102965G>A	ENST00000217173.2	-	3	791	c.320C>T	c.(319-321)cCa>cTa	p.P107L	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.P107L	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TGGGACAGATGGCTCAGCTGG	0.567																																																0													59	59	59					20																	3102965		2203	4300	6503	SO:0001583	missense	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.320C>T	chr20.hg19:g.3102965G>A	ENSP00000217173:p.Pro107Leu			Missense_Mutation	SNP	ENST00000217173.2	hg19	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	G	9.568	1.120384	0.20877	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.29397	1.57;1.57	4.8	2.74	0.32292	.	0.705996	0.12704	U	0.446080	T	0.22859	0.0552	L	0.44542	1.39	0.29757	N	0.835874	B;B;B	0.13145	0.004;0.003;0.007	B;B;B	0.08055	0.003;0.002;0.003	T	0.13176	-1.0519	10	0.38643	T	0.18	-0.4251	5.1325	0.14917	0.1731:0.0:0.5509:0.276	.	107;107;107	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	L	107	ENSP00000217173:P107L;ENSP00000311726:P107L	ENSP00000217173:P107L	P	-	2	0	UBOX5	3050965	0.241000	0.23857	0.305000	0.25099	0.964000	0.63967	0.662000	0.25038	1.232000	0.43678	0.563000	0.77884	CCA		0.567	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		A	3102965	G	A	3102965	3	1	64	1	0	0	0	0	1	0	0	0	16899	1348	47	2	1317	2	UBOX5	20	3102965	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08		3102965	59922555	66	4484											
HAO1	54363	hgsc.bcm.edu	37	20	7886831	7886832	+	In_Frame_Ins	INS	-	-	TTT			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr20:7886831_7886832insTTT	ENST00000378789.3	-	4	741_742	c.690_691insAAA	c.(688-693)tcattg>tcaAAAttg	p.230_231SL>SKL		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	230	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACAATTGGCAATGATGTCAGTC	0.386																																																0																																										SO:0001652	inframe_insertion	54363			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.690_691insAAA	chr20.hg19:g.7886831_7886832insTTT	ENSP00000368066:p.Ser230_Leu231insLys		Q14CQ0|Q9UPZ0|Q9Y3I7	In_Frame_Ins	INS	ENST00000378789.3	hg19	CCDS13100.1																																																																																				0.386	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			TTT	7886832	-	TTT	7886831	7	5	64	1	0	1	1	0	0	0	0	0	6953	98	4	0	441	0	HAO1	20	7886831	In_Frame_Ins	INS	-	TCGA-A4-7583-01A-11D-2136-08	4783866	7886831	55138689	67	4485											
PLAGL2	5326	hgsc.bcm.edu	37	20	30784822	30784822	+	Silent	SNP	C	C	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr20:30784822C>A	ENST00000246229.4	-	3	1188	c.924G>T	c.(922-924)acG>acT	p.T308T		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	308					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGGCACGCCCGTGCTGGGCA	0.597																																					Colon(163;15 1893 11280 16306 47518)											0													99	100	100					20																	30784822		2202	4300	6502	SO:0001819	synonymous_variant	5326				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.924G>T	chr20.hg19:g.30784822C>A			A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	hg19	CCDS13197.1																																																																																				0.597	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		A	30784822	C	A	30784822	2	1	64	1	0	0	0	0	0	0	0	1	12022	639	23	4		4	PLAGL2	20	30784822	Silent	SNP	C	TCGA-A4-7583-01A-11D-2136-08	22897991	30784822	32240698	68	4486											
BPIL1	80341	hgsc.bcm.edu	37	20	31604905	31604906	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr20:31604905_31604906insT	ENST00000170150.3	+	7	769_770	c.574_575insT	c.(574-576)attfs	p.I192fs		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	192						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GGGCACCTTAATTGGTAAGATC	0.619																																																0																																										SO:0001589	frameshift_variant	80341			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.576dupT	chr20.hg19:g.31604907_31604907dupT	ENSP00000170150:p.Ile192fs		Q6UWN3|Q6ZME0|Q8NFQ7	Frame_Shift_Ins	INS	ENST00000170150.3	hg19	CCDS13210.1																																																																																				0.619	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		T	31604906	-	T	31604905	7	5	64	1	0	1	1	0	0	0	0	0	1493	101	4	0	596	0	BPIL1	20	31604905	Frame_Shift_Ins	INS	-	TCGA-A4-7583-01A-11D-2136-08	820083	31604905	31420615	69	4487											
SETD4	54093	hgsc.bcm.edu	37	21	37418117	37418117	+	Silent	SNP	T	T	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr21:37418117T>C	ENST00000399215.1	-	5	1861	c.489A>G	c.(487-489)agA>agG	p.R163R	SETD4_ENST00000399212.1_Silent_p.R139R|SETD4_ENST00000399201.1_Silent_p.R139R|SETD4_ENST00000399207.1_Silent_p.R163R|SETD4_ENST00000399208.2_Silent_p.R163R|SETD4_ENST00000332131.4_Silent_p.R163R|SETD4_ENST00000399205.1_Silent_p.R139R|SETD4_ENST00000481477.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	163	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GCACGTGGGCTCTCTGCTCTT	0.502																																																0													99	112	107					21																	37418117		2203	4300	6503	SO:0001819	synonymous_variant	54093			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.489A>G	chr21.hg19:g.37418117T>C			B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	hg19	CCDS13640.1																																																																																				0.502	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		C	37418117	T	C	37418117	2	2	64	1	0	0	0	0	0	0	0	1	14139	1548	54	3		3	SETD4	21	37418117	Silent	SNP	T	TCGA-A4-7583-01A-11D-2136-08		37418117	10711778	70	4488											
SIK1	150094	hgsc.bcm.edu	37	21	44841223	44841223	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr21:44841223T>C	ENST00000270162.6	-	6	656	c.524A>G	c.(523-525)aAg>aGg	p.K175R		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CTCTCCTGACTTGTAGAAATT	0.567																																																0													51	61	58					21																	44841223		2203	4299	6502	SO:0001583	missense	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.524A>G	chr21.hg19:g.44841223T>C	ENSP00000270162:p.Lys175Arg		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	hg19	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379901	0.61845	.	.	ENSG00000142178	ENST00000270162	T	0.66280	-0.2	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.208643	0.49916	D	0.000136	T	0.45677	0.1354	N	0.12182	0.205	0.45150	D	0.998166	B	0.24721	0.11	B	0.25759	0.063	T	0.40664	-0.9551	10	0.37606	T	0.19	.	14.8612	0.70382	0.0:0.0:0.0:1.0	.	175	P57059	SIK1_HUMAN	R	175	ENSP00000270162:K175R	ENSP00000270162:K175R	K	-	2	0	SIK1	43665651	1.000000	0.71417	0.886000	0.34754	0.944000	0.59088	5.865000	0.69583	1.909000	0.55274	0.459000	0.35465	AAG		0.567	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		C	44841223	T	C	44841223	3	2	64	1	0	0	0	0	1	0	0	0	14323	1609	56	3	1863	3	SIK1	21	44841223	Missense_Mutation	SNP	T	TCGA-A4-7583-01A-11D-2136-08	7423106	44841223	3288672	71	4489											
COL18A1	80781	hgsc.bcm.edu	37	21	46911142	46911143	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr21:46911142_46911143GA>AT	ENST00000359759.4	+	21	3337_3338	c.3316_3317GA>AT	c.(3316-3318)GAt>ATt	p.D1106I	COL18A1_ENST00000355480.5_Missense_Mutation_p.D871I|COL18A1_ENST00000400337.2_Missense_Mutation_p.D691I			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1106	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTTCCAGGGAGATCCAGGGAAG	0.698																																																0																																										SO:0001583	missense	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	Exception_encountered	chr21.hg19:g.46911142_46911143delinsAT	ENSP00000352798:p.Asp1106Ile		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	hg19																																																																																					0.698	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			AT	46911143	GA	AT	46911142	3	1	64	1	0	0	0	0	1	0	0	0	3677	942	33	2	3512	2	COL18A1	21	46911142	Missense_Mutation	DNP	GA	TCGA-A4-7583-01A-11D-2136-08	2069919	46911142	1218753	72	4490											
PHF21B	112885	hgsc.bcm.edu	37	22	45312440	45312440	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr22:45312440G>T	ENST00000313237.5	-	4	434	c.284C>A	c.(283-285)cCc>cAc	p.P95H	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000396103.3_Missense_Mutation_p.P95H|PHF21B_ENST00000447824.3_Missense_Mutation_p.P83H|PHF21B_ENST00000404079.2_Missense_Mutation_p.P83H	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	95							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GAATGTTGGGGGCTGCTTGGG	0.647																																																0													43	48	46					22																	45312440		2202	4300	6502	SO:0001583	missense	112885			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.284C>A	chr22.hg19:g.45312440G>T	ENSP00000324403:p.Pro95His		B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	hg19	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671013	0.88348	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.06	5.06	0.68205	.	0.076937	0.51477	D	0.000089	T	0.47619	0.1455	L	0.54323	1.7	0.47065	D	0.999309	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;P	0.68621	0.919;0.959;0.943;0.885	T	0.48636	-0.9018	10	0.87932	D	0	0.0639	18.4696	0.90767	0.0:0.0:1.0:0.0	.	83;95;83;95	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	H	95;95;83;83;83	ENSP00000324403:P95H;ENSP00000379410:P95H;ENSP00000385105:P83H;ENSP00000388619:P83H;ENSP00000401294:P83H	ENSP00000324403:P95H	P	-	2	0	PHF21B	43691104	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.530000	0.90606	2.346000	0.79739	0.655000	0.94253	CCC		0.647	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		T	45312440	G	T	45312440	3	4	64	1	0	0	0	0	1	0	0	0	11836	1232	43	4	1351	4	PHF21B	22	45312440	Missense_Mutation	SNP	G	TCGA-A4-7583-01A-11D-2136-08		45312440	5992126	73	4491											
KLHL4	56062	hgsc.bcm.edu	37	X	86773063	86773063	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chrX:86773063C>G	ENST00000373119.4	+	1	312	c.167C>G	c.(166-168)tCt>tGt	p.S56C	KLHL4_ENST00000373114.4_Missense_Mutation_p.S56C	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	56						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAGAGCCACTCTCGGGACAGA	0.547																																																0													77	65	69					X																	86773063		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.167C>G	chrX.hg19:g.86773063C>G	ENSP00000362211:p.Ser56Cys		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	hg19	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752200	0.69533	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.76448	-1.02;-0.99	5.05	5.05	0.67936	.	2.035340	0.02405	N	0.081043	D	0.85894	0.5803	L	0.57536	1.79	0.58432	D	0.999993	B;P	0.42973	0.384;0.796	B;P	0.51415	0.345;0.669	T	0.71341	-0.4622	10	0.72032	D	0.01	.	16.3817	0.83467	0.0:1.0:0.0:0.0	.	56;56	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	C	56	ENSP00000362211:S56C;ENSP00000362206:S56C	ENSP00000362206:S56C	S	+	2	0	KLHL4	86659719	1.000000	0.71417	0.968000	0.41197	0.845000	0.48019	6.820000	0.75267	2.327000	0.79052	0.513000	0.50165	TCT		0.547	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			G	86773063	C	G	86773063	3	3	64	1	0	0	0	0	1	0	0	0	8393	913	32	4	169	4	KLHL4	23	86773063	Missense_Mutation	SNP	C	TCGA-A4-7583-01A-11D-2136-08		86773063	68497497	74	4492											
GAB3	139716	hgsc.bcm.edu	37	X	153928305	153928305	+	Silent	SNP	G	G	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chrX:153928305G>T	ENST00000369575.3	-	5	1127	c.1096C>A	c.(1096-1098)Cga>Aga	p.R366R	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Silent_p.R367R	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	366					macrophage differentiation (GO:0030225)			p.R366*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCTTGTCTCGGTGTCTTAAG	0.393																																																1	Substitution - Nonsense(1)	large_intestine(1)											159	142	148					X																	153928305		2203	4300	6503	SO:0001819	synonymous_variant	139716			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1096C>A	chrX.hg19:g.153928305G>T			A6NHF8|E9PB44	Silent	SNP	ENST00000369575.3	hg19	CCDS14760.1																																																																																				0.393	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		T	153928305	G	T	153928305	2	4	64	1	0	0	0	0	0	0	0	1	6152	1124	39	4		4	GAB3	23	153928305	Silent	SNP	G	TCGA-A4-7583-01A-11D-2136-08	67155242	153928305	1342255	75	4493											
CPSF3L	54973	hgsc.bcm.edu	37	1	1248497	1248497	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:1248497A>G	ENST00000435064.1	-	11	1131	c.1049T>C	c.(1048-1050)aTg>aCg	p.M350T	CPSF3L_ENST00000421495.2_Missense_Mutation_p.M92T|CPSF3L_ENST00000540437.1_Missense_Mutation_p.M356T|CPSF3L_ENST00000419704.1_Missense_Mutation_p.M249T|CPSF3L_ENST00000450926.2_Missense_Mutation_p.M328T|CPSF3L_ENST00000411962.1_Missense_Mutation_p.M252T|CPSF3L_ENST00000545578.1_Missense_Mutation_p.M321T|CPSF3L_ENST00000462432.1_5'UTR	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	350					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GTAGCCGGGCATGATGACCTG	0.677																																																0													22	21	21					1																	1248497		2196	4288	6484	SO:0001583	missense	54973			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1049T>C	chr1.hg19:g.1248497A>G	ENSP00000413493:p.Met350Thr		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	hg19	CCDS21.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.295485	0.60086	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T;T	0.46451	0.95;0.95;0.95;0.95;0.87	5.48	5.48	0.80851	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	M	0.78049	2.395	0.80722	D	1	P;P;P;P;P;P	0.51933	0.696;0.741;0.949;0.936;0.837;0.741	P;P;P;P;P;P	0.57960	0.535;0.665;0.83;0.738;0.617;0.665	T	0.67632	-0.5621	10	0.87932	D	0	-54.7181	15.5355	0.75998	1.0:0.0:0.0:0.0	.	328;321;252;249;356;350	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	T	350;252;243;249;356;328;321	ENSP00000413493:M350T;ENSP00000404886:M249T;ENSP00000445001:M356T;ENSP00000392848:M328T;ENSP00000444672:M321T	ENSP00000294579:M243T	M	-	2	0	CPSF3L	1238360	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.568000	0.90741	2.077000	0.62373	0.460000	0.39030	ATG		0.677	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		G	1248497	A	G	1248497	3	3	65	1	0	0	0	0	1	0	0	0	3829	217	8	3	781	3	CPSF3L	1	1248497	Missense_Mutation	SNP	A	TCGA-A4-7584-01A-11D-2136-08		1248497	248002124	1	4494											
PLCH2	9651	hgsc.bcm.edu	37	1	2430213	2430213	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:2430213A>G	ENST00000419816.2	+	18	2654	c.2380A>G	c.(2380-2382)Att>Gtt	p.I794V	PLCH2_ENST00000449969.1_Missense_Mutation_p.I767V|PLCH2_ENST00000378486.3_Missense_Mutation_p.I794V|PLCH2_ENST00000288766.5_Missense_Mutation_p.I82V|PLCH2_ENST00000378488.3_Missense_Mutation_p.I758V			O75038	PLCH2_HUMAN	phospholipase C, eta 2	794	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGTGGAGATCATTGGGCTCCC	0.657																																																0													28	32	31					1																	2430213		2068	4190	6258	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.2380A>G	chr1.hg19:g.2430213A>G	ENSP00000389803:p.Ile794Val		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	hg19		.	.	.	.	.	.	.	.	.	.	A	21.1	4.104041	0.76983	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000288766;ENST00000378483;ENST00000343889;ENST00000278878	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	4.93	4.93	0.64822	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	L	0.28400	0.85	0.48632	D	0.999685	P;P;D;P	0.69078	0.938;0.938;0.997;0.938	P;P;D;P	0.77557	0.679;0.842;0.99;0.842	T	0.01661	-1.1301	10	0.52906	T	0.07	.	13.39	0.60818	1.0:0.0:0.0:0.0	.	641;546;767;794	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	V	767;794;758;82;80;641;546	ENSP00000397289:I767V;ENSP00000367747:I794V;ENSP00000367749:I758V;ENSP00000288766:I82V	ENSP00000278878:I546V	I	+	1	0	PLCH2	2420073	1.000000	0.71417	0.993000	0.49108	0.499000	0.33736	5.860000	0.69546	1.845000	0.53610	0.459000	0.35465	ATT		0.657	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		G	2430213	A	G	2430213	3	3	65	1	0	0	0	0	1	0	0	0	12040	217	8	3	2450	3	PLCH2	1	2430213	Missense_Mutation	SNP	A	TCGA-A4-7584-01A-11D-2136-08	1181716	2430213	246820408	2	4495											
HMGB4	127540	hgsc.bcm.edu	37	1	34329977	34329977	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:34329977C>T	ENST00000522796.1	+	4	2090	c.185C>T	c.(184-186)gCc>gTc	p.A62V	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.A62V|HMGB4_ENST00000425537.1_3'UTR			Q8WW32	HMGB4_HUMAN	high mobility group box 4	62						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAATATGAAGCCCTGGCCAAA	0.463																																																0													120	135	130					1																	34329977		2203	4300	6503	SO:0001583	missense	127540				CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"High-mobility group / Canonical"	24954	protein-coding gene	gene with protein product			"high-mobility group box 4"				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.185C>T	chr1.hg19:g.34329977C>T	ENSP00000430919:p.Ala62Val		B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	hg19	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542128	0.65198	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	T;T	0.14144	2.53;2.53	5.58	0.467	0.16721	.	0.232725	0.37053	N	0.002268	T	0.18002	0.0432	M	0.68317	2.08	0.31177	N	0.702474	P	0.40931	0.733	P	0.46758	0.526	T	0.09662	-1.0664	10	0.87932	D	0	.	4.817	0.13372	0.4359:0.4072:0.0:0.1569	.	62	B2R4X7	.	V	62	ENSP00000429214:A62V;ENSP00000430919:A62V	ENSP00000429214:A62V	A	+	2	0	HMGB4	34102564	0.991000	0.36638	0.082000	0.20525	0.854000	0.48673	2.434000	0.44802	-0.049000	0.13379	-0.192000	0.12808	GCC		0.463	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		T	34329977	C	T	34329977	3	4	65	1	0	0	0	0	1	0	0	0	7230	739	26	2	187	2	HMGB4	1	34329977	Missense_Mutation	SNP	C	TCGA-A4-7584-01A-11D-2136-08	31899764	34329977	214920644	3	4496											
SSBP3	23648	hgsc.bcm.edu	37	1	54870254	54870254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:54870254C>T	ENST00000371320.3	-	3	596	c.186G>A	c.(184-186)tgG>tgA	p.W62*	SSBP3_ENST00000371319.3_Nonsense_Mutation_p.W62*|SSBP3_ENST00000357475.4_Nonsense_Mutation_p.W62*|SSBP3_ENST00000417664.2_De_novo_Start_OutOfFrame	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	62					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						CTTACCACCACCACGAGTGCA	0.507																																																0													88	76	80					1																	54870254		2203	4300	6503	SO:0001587	stop_gained	23648				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"single-stranded DNA-binding protein 3"			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.186G>A	chr1.hg19:g.54870254C>T	ENSP00000360371:p.Trp62*		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Nonsense_Mutation	SNP	ENST00000371320.3	hg19	CCDS591.1	.	.	.	.	.	.	.	.	.	.	C	43	10.209365	0.99360	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	5.03	5.03	0.67393	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2803	18.3392	0.90299	0.0:1.0:0.0:0.0	.	.	.	.	X	62	.	ENSP00000350067:W62X	W	-	3	0	SSBP3	54642842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.556000	0.82233	2.502000	0.84385	0.561000	0.74099	TGG		0.507	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		T	54870254	C	T	54870254	4	4	65	1	0	0	0	0	0	1	0	0	15186	508	18	2	1044	2	SSBP3	1	54870254	Nonsense_Mutation	SNP	C	TCGA-A4-7584-01A-11D-2136-08	20540277	54870254	194380367	4	4497											
LIX1L	128077	hgsc.bcm.edu	37	1	145497429	145497430	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:145497429_145497430insT	ENST00000369308.3	+	4	708_709	c.634_635insT	c.(634-636)attfs	p.I212fs	RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	212										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAATACAGGGATTGGTGCCTTC	0.45																																																0																																										SO:0001589	frameshift_variant	128077			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"Lix1 homolog (mouse) like", "Lix1 homolog (chicken)-like"			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.636dupT	chr1.hg19:g.145497431_145497431dupT	ENSP00000358314:p.Ile212fs		Q6AI36	Frame_Shift_Ins	INS	ENST00000369308.3	hg19	CCDS915.1																																																																																				0.45	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		T	145497430	-	T	145497429	7	5	65	1	0	1	1	0	0	0	0	0	8834	333	12	0	648	0	LIX1L	1	145497429	Frame_Shift_Ins	INS	-	TCGA-A4-7584-01A-11D-2136-08	90627175	145497429	103753192	5	4498											
GLT25D2	23127	hgsc.bcm.edu	37	1	183944269	183944269	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:183944269G>C	ENST00000361927.4	-	3	825	c.454C>G	c.(454-456)Ctt>Gtt	p.L152V	COLGALT2_ENST00000546159.1_Missense_Mutation_p.L152V	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	152					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										GCAGTTCGAAGGGCTGCCTGT	0.438																																																0													119	113	115					1																	183944269		2203	4300	6503	SO:0001583	missense	23127			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.454C>G	chr1.hg19:g.183944269G>C	ENSP00000354960:p.Leu152Val		O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	hg19	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519102	0.85495	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.62364	0.03;0.03	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.80889	0.4710	M	0.89840	3.065	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.67725	0.873;0.953	D	0.84426	0.0574	10	0.87932	D	0	.	12.479	0.55831	0.0768:0.0:0.9232:0.0	.	152;152	F5H3T5;Q8IYK4	.;GT252_HUMAN	V	152	ENSP00000439112:L152V;ENSP00000354960:L152V	ENSP00000354960:L152V	L	-	1	0	GLT25D2	182210892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.705000	0.84606	2.583000	0.87209	0.650000	0.86243	CTT		0.438	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		C	183944269	G	C	183944269	3	2	65	1	0	0	0	0	1	0	0	0	6469	1000	35	4	1466	4	GLT25D2	1	183944269	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08	38446840	183944269	65306352	6	4499											
HMCN1	83872	hgsc.bcm.edu	37	1	186083139	186083139	+	Silent	SNP	G	G	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr1:186083139G>A	ENST00000271588.4	+	73	11389	c.11160G>A	c.(11158-11160)caG>caA	p.Q3720Q	HMCN1_ENST00000367492.2_Silent_p.Q3720Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3720	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGGCCCCCAGAGCCTTGTAA	0.423																																																0													114	133	127					1																	186083139		2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11160G>A	chr1.hg19:g.186083139G>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																				0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186083139	G	A	186083139	2	1	65	1	0	0	0	0	0	0	0	1	7222	933	33	2		2	HMCN1	1	186083139	Silent	SNP	G	TCGA-A4-7584-01A-11D-2136-08	2138870	186083139	63167482	7	4500											
GCC2	9648	hgsc.bcm.edu	37	2	109109239	109109239	+	Silent	SNP	C	C	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr2:109109239C>T	ENST00000309863.6	+	19	5154	c.4440C>T	c.(4438-4440)acC>acT	p.T1480T		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1480					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATGAACCGACCACAAGAAGTA	0.373																																																0													85	85	85					2																	109109239		2203	4300	6503	SO:0001819	synonymous_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4440C>T	chr2.hg19:g.109109239C>T			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	hg19	CCDS33268.1																																																																																				0.373	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		T	109109239	C	T	109109239	2	4	65	1	0	0	0	0	0	0	0	1	6288	581	21	2		2	GCC2	2	109109239	Silent	SNP	C	TCGA-A4-7584-01A-11D-2136-08		109109239	134090134	8	4501											
TTN	7273	hgsc.bcm.edu	37	2	179611391	179611391	+	Intron	SNP	G	G	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr2:179611391G>C	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.Q5246E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TCTCCTTTTTGAATGTTAGAA	0.388																																																0													136	129	131					2																	179611391		2203	4300	6503	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4743C>G	chr2.hg19:g.179611391G>C			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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	G	3.110	-0.182790	0.06340	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.65916	-0.18	5.95	5.95	0.96441	.	.	.	.	.	T	0.48352	0.1495	L	0.49778	1.585	0.80722	D	1	P	0.39282	0.666	B	0.28916	0.096	T	0.53063	-0.8491	9	0.02654	T	1	.	15.7227	0.77724	0.0:0.0:0.802:0.198	.	5246	Q8WZ42-6	.	E	5246;527	ENSP00000354117:Q5246E	ENSP00000304714:Q527E	Q	-	1	0	TTN	179319636	0.997000	0.39634	0.984000	0.44739	0.974000	0.67602	2.850000	0.48294	2.825000	0.97269	0.655000	0.94253	CAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179611391	G	C	179611391	1	2	65	0	1	0	0	0	0	0	0	0	16740	1299	45	4		4	TTN	2	179611391	Intron	SNP	G	TCGA-A4-7584-01A-11D-2136-08	70502152	179611391	63587982	9	4502											
GPR1	2825	hgsc.bcm.edu	37	2	207040930	207040930	+	Silent	SNP	G	G	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr2:207040930G>A	ENST00000407325.2	-	3	1404	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L	GPR1_ENST00000437420.1_Silent_p.L348L	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	348					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGGAGACACAGATTCTTGGTT	0.428																																																0													64	61	62					2																	207040930		2203	4300	6503	SO:0001819	synonymous_variant	2825				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.1042C>T	chr2.hg19:g.207040930G>A			A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Silent	SNP	ENST00000407325.2	hg19	CCDS2368.1																																																																																				0.428	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		A	207040930	G	A	207040930	2	1	65	1	0	0	0	0	0	0	0	1	6623	933	33	2		2	GPR1	2	207040930	Silent	SNP	G	TCGA-A4-7584-01A-11D-2136-08	27429539	207040930	36158443	10	4503											
RBM44	375316	hgsc.bcm.edu	37	2	238722326	238722326	+	Splice_Site	SNP	G	G	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr2:238722326G>T	ENST00000444524.2	+	2	201		c.e2+1		RBM44_ENST00000409864.1_Splice_Site|RBM44_ENST00000316997.4_Splice_Site			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44							cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CTCCAAAAAGGTAAGGGTCTA	0.448																																																0													55	57	57					2																	238722326		1917	4134	6051	SO:0001630	splice_region_variant	375316			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000444524.2:c.201+1G>T	chr2.hg19:g.238722326G>T			A0AUW3	Splice_Site	SNP	ENST00000444524.2	hg19		.	.	.	.	.	.	.	.	.	.	G	10.22	1.289839	0.23478	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4628	0.55741	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM44	238387065	1.000000	0.71417	0.956000	0.39512	0.166000	0.22503	3.694000	0.54742	2.660000	0.90430	0.655000	0.94253	.		0.448	RBM44-003	PUTATIVE	basic|exp_conf	processed_transcript	protein_coding	OTTHUMT00000400909.1	NM_001080504	Intron	T	238722326	G	T	238722326	5	4	65	1	0	0	0	0	0	0	1	0	13144	1275	44	4	79	4	RBM44	2	238722326	Splice_Site	SNP	G	TCGA-A4-7584-01A-11D-2136-08	31681396	238722326	4477047	11	4504											
RAD54L2	23132	hgsc.bcm.edu	37	3	51697207	51697207	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr3:51697207C>G	ENST00000409535.2	+	22	4300	c.4175C>G	c.(4174-4176)tCc>tGc	p.S1392C	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S1086C	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1392						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCACTCCTGTCCGAGCCGAGG	0.567																																																0													153	132	139					3																	51697207		2203	4300	6503	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.4175C>G	chr3.hg19:g.51697207C>G	ENSP00000386520:p.Ser1392Cys		Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	hg19	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390512	0.62066	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.94092	-3.24;-3.35	5.56	5.56	0.83823	.	0.324591	0.28927	N	0.013698	D	0.85643	0.5744	N	0.08118	0	0.80722	D	1	P;P	0.46327	0.661;0.876	B;B	0.36289	0.221;0.221	D	0.88801	0.3285	10	0.72032	D	0.01	-4.0774	18.5281	0.90980	0.0:1.0:0.0:0.0	.	1392;981	Q9Y4B4;B3KV54	ARIP4_HUMAN;.	C	1392;1086	ENSP00000386520:S1392C;ENSP00000296477:S1086C	ENSP00000296477:S1086C	S	+	2	0	RAD54L2	51672247	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.158000	0.58150	2.609000	0.88269	0.655000	0.94253	TCC		0.567	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		G	51697207	C	G	51697207	3	3	65	1	0	0	0	0	1	0	0	0	13000	855	30	4	4257	4	RAD54L2	3	51697207	Missense_Mutation	SNP	C	TCGA-A4-7584-01A-11D-2136-08		51697207	146325223	12	4505											
MITF	4286	hgsc.bcm.edu	37	3	69928532	69928532	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr3:69928532A>T	ENST00000448226.2	+	2	479	c.352A>T	c.(352-354)Aag>Tag	p.K118*	MITF_ENST00000314589.5_Nonsense_Mutation_p.K102*|MITF_ENST00000352241.4_Nonsense_Mutation_p.K118*|MITF_ENST00000394355.2_Nonsense_Mutation_p.K93*|MITF_ENST00000328528.6_Nonsense_Mutation_p.K117*|MITF_ENST00000472437.1_Nonsense_Mutation_p.K66*			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	118					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GGAAGTCCTTAAGGTACGTGA	0.478			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0													53	59	57					3																	69928532		2104	4227	6331	SO:0001587	stop_gained	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.352A>T	chr3.hg19:g.69928532A>T	ENSP00000391803:p.Lys118*		B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Nonsense_Mutation	SNP	ENST00000448226.2	hg19		.	.	.	.	.	.	.	.	.	.	A	33	5.248140	0.95305	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000429090;ENST00000433517;ENST00000472437;ENST00000457080;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355	.	.	.	6.02	6.02	0.97574	.	0.088619	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	.	.	.	X	118;118;66;66;66;117;117;102;102;93	.	.	K	+	1	0	MITF	70011222	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.923000	0.92808	2.311000	0.77944	0.533000	0.62120	AAG		0.478	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		T	69928532	A	T	69928532	4	4	65	1	0	0	0	0	0	1	0	0	9598	363	13	5	523	5	MITF	3	69928532	Nonsense_Mutation	SNP	A	TCGA-A4-7584-01A-11D-2136-08	18231325	69928532	128093898	13	4506											
FAM55C	91775	hgsc.bcm.edu	37	3	101520832	101520832	+	Splice_Site	SNP	A	A	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr3:101520832A>T	ENST00000491511.2	+	5	1803	c.847A>T	c.(847-849)Agt>Tgt	p.S283C	NXPE3_ENST00000273347.5_Splice_Site_p.S283C|NXPE3_ENST00000422132.1_Splice_Site_p.S283C|NXPE3_ENST00000477909.1_Splice_Site_p.S283C	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	283						extracellular region (GO:0005576)											TTTCTTCCAGAGGTATGTACT	0.443																																																0													92	98	96					3																	101520832		2177	4287	6464	SO:0001630	splice_region_variant	91775			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.848+1A>T	chr3.hg19:g.101520832A>T			A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	hg19	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677582	0.88445	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.8	5.8	0.92144	.	0.197973	0.64402	D	0.000006	T	0.37461	0.1004	M	0.69823	2.125	0.58432	D	0.999999	D	0.76494	0.999	D	0.71656	0.974	T	0.10941	-1.0608	10	0.66056	D	0.02	-3.0682	16.1475	0.81580	1.0:0.0:0.0:0.0	.	283	Q969Y0	FA55C_HUMAN	C	283	ENSP00000273347:S283C;ENSP00000417485:S283C;ENSP00000418369:S283C;ENSP00000396421:S283C	ENSP00000273347:S283C	S	+	1	0	FAM55C	103003522	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.300000	0.96151	2.213000	0.71641	0.528000	0.53228	AGT		0.443	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037	Missense_Mutation	T	101520832	A	T	101520832	5	4	65	1	0	0	0	0	0	0	1	0	5588	318	11	5	853	5	FAM55C	3	101520832	Splice_Site	SNP	A	TCGA-A4-7584-01A-11D-2136-08	31592300	101520832	96501598	14	4507											
AP2M1	1173	hgsc.bcm.edu	37	3	183898969	183898969	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr3:183898969T>C	ENST00000292807.5	+	7	810	c.662T>C	c.(661-663)gTt>gCt	p.V221A	AP2M1_ENST00000439647.1_Missense_Mutation_p.V219A|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.V219A|AP2M1_ENST00000411763.2_Missense_Mutation_p.V246A|AP2M1_ENST00000461733.1_3'UTR	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	221	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACAAGATTGTTATTGAAAAG	0.562																																																0													145	153	151					3																	183898969		2060	4205	6265	SO:0001583	missense	1173			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.662T>C	chr3.hg19:g.183898969T>C	ENSP00000292807:p.Val221Ala		A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	ENST00000292807.5	hg19	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963122	0.53507	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	6.07	4.91	0.64330	Clathrin adaptor, mu subunit, C-terminal (3);	0.164876	0.53938	D	0.000053	T	0.33059	0.0850	M	0.67569	2.06	0.58432	D	0.999999	B;B;B;B	0.26602	0.003;0.076;0.154;0.127	B;B;B;B	0.41174	0.039;0.349;0.198;0.125	T	0.09122	-1.0689	10	0.46703	T	0.11	.	12.1758	0.54184	0.0:0.0663:0.0:0.9337	.	111;91;221;219	B7Z4N2;B4DTI4;Q96CW1;Q96CW1-2	.;.;AP2M1_HUMAN;.	A	219;246;221;161;206;219	ENSP00000371894:V219A;ENSP00000403362:V246A;ENSP00000292807:V221A;ENSP00000409081:V219A	ENSP00000292807:V221A	V	+	2	0	AP2M1	185381663	1.000000	0.71417	0.993000	0.49108	0.920000	0.55202	7.375000	0.79646	1.119000	0.41883	-0.256000	0.11100	GTT		0.562	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		C	183898969	T	C	183898969	3	2	65	1	0	0	0	0	1	0	0	0	742	1725	60	3	681	3	AP2M1	3	183898969	Missense_Mutation	SNP	T	TCGA-A4-7584-01A-11D-2136-08	82378137	183898969	14123461	15	4508											
FIP1L1	81608	hgsc.bcm.edu	37	4	54266007	54266007	+	Splice_Site	SNP	G	G	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr4:54266007G>C	ENST00000337488.6	+	10	1009		c.e10+1		FIP1L1_ENST00000306932.6_Splice_Site|FIP1L1_ENST00000507922.1_Splice_Site|FIP1L1_ENST00000507166.1_Splice_Site|FIP1L1_ENST00000358575.5_Splice_Site	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1						mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CACCGAGCAGGTTAGTTACAT	0.363			T	PDGFRA	idiopathic hypereosinophilic syndrome																																		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0													132	128	129					4																	54266007		2203	4300	6503	SO:0001630	splice_region_variant	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.815+1G>C	chr4.hg19:g.54266007G>C			B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Splice_Site	SNP	ENST00000337488.6	hg19	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122802	0.56613	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5077	0.95125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FIP1L1	53960764	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.864000	0.87037	2.683000	0.91414	0.655000	0.94253	.		0.363	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917	Intron	C	54266007	G	C	54266007	5	2	65	1	0	0	0	0	0	0	1	0	5898	1275	44	4	854	4	FIP1L1	4	54266007	Splice_Site	SNP	G	TCGA-A4-7584-01A-11D-2136-08		54266007	136888269	16	4509											
PLRG1	5356	hgsc.bcm.edu	37	4	155465648	155465648	+	Silent	SNP	T	T	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr4:155465648T>C	ENST00000499023.2	-	7	669	c.543A>G	c.(541-543)aaA>aaG	p.K181K	PLRG1_ENST00000302078.5_Silent_p.K172K|PLRG1_ENST00000393905.2_Silent_p.K181K|RNU6-1285P_ENST00000363480.1_RNA	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	181					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TTGTAGGGGCTTTTTTAGCCA	0.408																																																0													139	140	139					4																	155465648		2203	4300	6503	SO:0001819	synonymous_variant	5356			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.543A>G	chr4.hg19:g.155465648T>C			B3KMK4|Q3KQY5|Q8WUD8	Silent	SNP	ENST00000499023.2	hg19	CCDS34083.1																																																																																				0.408	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		C	155465648	T	C	155465648	2	2	65	1	0	0	0	0	0	0	0	1	12108	1606	56	3		3	PLRG1	4	155465648	Silent	SNP	T	TCGA-A4-7584-01A-11D-2136-08	101199641	155465648	35688628	17	4510											
PCSK1	5122	hgsc.bcm.edu	37	5	95761622	95761622	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr5:95761622C>G	ENST00000311106.3	-	3	535	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.E53Q	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	100					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TACTGTTGTTCAGCCCATATC	0.383																																																0													141	129	133					5																	95761622		2203	4300	6503	SO:0001583	missense	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.298G>C	chr5.hg19:g.95761622C>G	ENSP00000308024:p.Glu100Gln		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	hg19	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305017	0.81247	.	.	ENSG00000175426	ENST00000311106;ENST00000508626;ENST00000509190	T;T;T	0.33216	1.42;1.42;2.19	5.63	5.63	0.86233	Proteinase inhibitor, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	L	0.39633	1.23	0.58432	D	0.999997	D	0.53312	0.959	P	0.49887	0.625	T	0.01613	-1.1312	10	0.15066	T	0.55	-30.1455	19.6351	0.95728	0.0:1.0:0.0:0.0	.	100	P29120	NEC1_HUMAN	Q	100;53;100	ENSP00000308024:E100Q;ENSP00000421600:E53Q;ENSP00000427294:E100Q	ENSP00000308024:E100Q	E	-	1	0	PCSK1	95787378	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.393000	0.79851	2.805000	0.96524	0.655000	0.94253	GAA		0.383	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		G	95761622	C	G	95761622	3	3	65	1	0	0	0	0	1	0	0	0	11602	835	29	4	2011	4	PCSK1	5	95761622	Missense_Mutation	SNP	C	TCGA-A4-7584-01A-11D-2136-08		95761622	85153638	18	4511											
FAM71B	153745	hgsc.bcm.edu	37	5	156590018	156590018	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr5:156590018G>C	ENST00000302938.4	-	2	1353	c.1258C>G	c.(1258-1260)Ccc>Gcc	p.P420A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	420						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGCACTGGGCTGGGAAACT	0.488																																																0													102	103	102					5																	156590018		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1258C>G	chr5.hg19:g.156590018G>C	ENSP00000305596:p.Pro420Ala		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	hg19	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.631608	0.00813	.	.	ENSG00000170613	ENST00000302938	T	0.17528	2.27	4.4	-1.91	0.07641	.	0.847983	0.09952	N	0.734546	T	0.10035	0.0246	L	0.48877	1.53	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.42849	-0.9427	10	0.07482	T	0.82	-0.6432	2.0469	0.03562	0.1:0.2599:0.2424:0.3977	.	420	Q8TC56	FA71B_HUMAN	A	420	ENSP00000305596:P420A	ENSP00000305596:P420A	P	-	1	0	FAM71B	156522596	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.057000	0.11768	-0.177000	0.10690	-0.291000	0.09656	CCC		0.488	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		C	156590018	G	C	156590018	3	2	65	1	0	0	0	0	1	0	0	0	5610	1203	42	4	563	4	FAM71B	5	156590018	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08	60828396	156590018	24325242	19	4512											
BAI3	577	hgsc.bcm.edu	37	6	69666026	69666027	+	Frame_Shift_Ins	INS	-	-	A	rs141698131		TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr6:69666026_69666027insA	ENST00000370598.1	+	7	2127_2128	c.1306_1307insA	c.(1306-1308)gaafs	p.E436fs		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	436	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGAGGCTCCGAATGCAGAGGG	0.554																																																0																																										SO:0001589	frameshift_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1308dupA	chr6.hg19:g.69666028_69666028dupA	ENSP00000359630:p.Glu436fs		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Frame_Shift_Ins	INS	ENST00000370598.1	hg19	CCDS4968.1																																																																																				0.554	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			A	69666027	-	A	69666026	7	5	65	1	0	1	1	0	0	0	0	0	1300	1059	37	0	1324	0	BAI3	6	69666026	Frame_Shift_Ins	INS	-	TCGA-A4-7584-01A-11D-2136-08		69666026	101449041	20	4513											
DDO	8528	hgsc.bcm.edu	37	6	110734538	110734538	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr6:110734538G>A	ENST00000368924.3	-	2	227	c.212C>T	c.(211-213)aCc>aTc	p.T71I	DDO_ENST00000368923.3_Missense_Mutation_p.T71I	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	43					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CACATCACTGGTGGTATCTGG	0.493																																																0													133	116	122					6																	110734538		2203	4300	6503	SO:0001583	missense	8528			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.212C>T	chr6.hg19:g.110734538G>A	ENSP00000357920:p.Thr71Ile		A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	hg19	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287509	0.80803	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;D;D	0.83250	-1.7;-1.7;-1.7	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95581	0.8646	10	0.72032	D	0.01	-21.4422	19.187	0.93648	0.0:0.0:1.0:0.0	.	71;71	Q99489-4;Q99489-3	.;.	I	71;71;43	ENSP00000357920:T71I;ENSP00000357919:T71I;ENSP00000357921:T43I	ENSP00000357919:T71I	T	-	2	0	DDO	110841231	1.000000	0.71417	0.997000	0.53966	0.546000	0.35178	7.120000	0.77153	2.614000	0.88457	0.655000	0.94253	ACC		0.493	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			A	110734538	G	A	110734538	3	1	65	1	0	0	0	0	1	0	0	0	4336	1261	44	2	913	2	DDO	6	110734538	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08	41068512	110734538	60380529	21	4514											
SYNE1	23345	hgsc.bcm.edu	37	6	152631610	152631610	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr6:152631610G>A	ENST00000367255.5	-	89	17541	c.16940C>T	c.(16939-16941)gCc>gTc	p.A5647V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A5576V|SYNE1_ENST00000356820.4_Missense_Mutation_p.A171V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A5647V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A5259V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A5576V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5647					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A5647V(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCTCCAAGGCAGCTTGTAA	0.433										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	large_intestine(2)											104	103	103					6																	152631610		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16940C>T	chr6.hg19:g.152631610G>A	ENSP00000356224:p.Ala5647Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327610	0.81690	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.50548	1.38;1.38;1.38;1.38;0.74;1.38	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000009	T	0.64136	0.2571	M	0.72118	2.19	0.53688	D	0.99997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.961;0.961;0.983	T	0.57963	-0.7720	10	0.39692	T	0.17	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	5647;5647;5576	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	V	5647;5576;5647;5576;5259;171	ENSP00000356224:A5647V;ENSP00000396024:A5576V;ENSP00000265368:A5647V;ENSP00000390975:A5576V;ENSP00000341887:A5259V;ENSP00000349276:A171V	ENSP00000265368:A5647V	A	-	2	0	SYNE1	152673303	1.000000	0.71417	0.811000	0.32455	0.720000	0.41350	7.876000	0.87215	2.882000	0.98803	0.655000	0.94253	GCC		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152631610	G	A	152631610	3	1	65	1	0	0	0	0	1	0	0	0	15450	1203	42	2	9758	2	SYNE1	6	152631610	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08	41897072	152631610	18483457	22	4515											
ACTB	60	hgsc.bcm.edu	37	7	5568977	5568977	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr7:5568977T>C	ENST00000331789.5	-	3	369	c.178A>G	c.(178-180)Agc>Ggc	p.S60G	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	60					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CCTCTCTTGCTCTGGGCCTCG	0.587																																																0													71	73	73					7																	5568977		2203	4298	6501	SO:0001583	missense	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.178A>G	chr7.hg19:g.5568977T>C	ENSP00000349960:p.Ser60Gly		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	hg19	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870663	0.51695	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000432588;ENST00000443528;ENST00000417101;ENST00000414620	D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72	4.91	4.91	0.64330	Actin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	M	0.81497	2.545	0.45594	D	0.998536	P	0.35033	0.481	P	0.45195	0.473	D	0.93247	0.6631	10	0.87932	D	0	.	12.5141	0.56021	0.0:0.0:0.0:1.0	.	60	P60709	ACTB_HUMAN	G	60;60;60;60;63;60	ENSP00000349960:S60G;ENSP00000407473:S60G;ENSP00000393951:S60G;ENSP00000399487:S63G;ENSP00000401032:S60G	ENSP00000349960:S60G	S	-	1	0	ACTB	5535503	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.816000	0.86201	1.837000	0.53436	0.460000	0.39030	AGC		0.587	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		C	5568977	T	C	5568977	3	2	65	1	0	0	0	0	1	0	0	0	193	1551	54	3	965	3	ACTB	7	5568977	Missense_Mutation	SNP	T	TCGA-A4-7584-01A-11D-2136-08		5568977	153569686	23	4516											
ANKMY2	57037	hgsc.bcm.edu	37	7	16650259	16650260	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr7:16650259_16650260TC>CT	ENST00000306999.2	-	6	903_904	c.660_661GA>AG	c.(658-663)atGAag>atAGag	p.220_221MK>IE		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	220						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TAATGCATCTTCATAGCCAATA	0.351																																																0																																										SO:0001583	missense	57037			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.660_661delinsCT	chr7.hg19:g.16650259_16650260delinsCT	ENSP00000303570:p.M220_K221delinsIE		A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	hg19	CCDS5361.1																																																																																				0.351	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		CT	16650260	TC	CT	16650259	3	2	65	1	0	0	0	0	1	0	0	0	635	1792	62	3	684	3	ANKMY2	7	16650259	Missense_Mutation	DNP	TC	TCGA-A4-7584-01A-11D-2136-08	11081282	16650259	142488404	24	4517											
PCLO	27445	hgsc.bcm.edu	37	7	82584714	82584714	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr7:82584714T>A	ENST00000333891.9	-	5	5892	c.5555A>T	c.(5554-5556)cAt>cTt	p.H1852L	PCLO_ENST00000423517.2_Missense_Mutation_p.H1852L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAAGATCTATGGAGCTCCTC	0.408																																																0													178	163	168					7																	82584714		1858	4097	5955	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5555A>T	chr7.hg19:g.82584714T>A	ENSP00000334319:p.His1852Leu			Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390651	0.25118	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19938	2.11;2.12	5.57	5.57	0.84162	.	.	.	.	.	T	0.16727	0.0402	N	0.19112	0.55	0.80722	D	1	P;P	0.41848	0.763;0.763	B;B	0.39185	0.293;0.293	T	0.02860	-1.1101	9	0.87932	D	0	.	15.7247	0.77747	0.0:0.0:0.0:1.0	.	1852;1852	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1783;1852;1852	ENSP00000334319:H1852L;ENSP00000388393:H1852L	ENSP00000334319:H1852L	H	-	2	0	PCLO	82422650	0.995000	0.38212	0.924000	0.36721	0.989000	0.77384	2.626000	0.46460	2.116000	0.64780	0.533000	0.62120	CAT		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82584714	T	A	82584714	3	1	65	1	0	0	0	0	1	0	0	0	11585	1464	51	5	9974	5	PCLO	7	82584714	Missense_Mutation	SNP	T	TCGA-A4-7584-01A-11D-2136-08	65934455	82584714	76553949	25	4518											
WDR91	29062	hgsc.bcm.edu	37	7	134871027	134871027	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr7:134871027A>T	ENST00000354475.4	-	15	2151	c.2120T>A	c.(2119-2121)cTa>cAa	p.L707Q	WDR91_ENST00000423565.1_Missense_Mutation_p.L672Q|WDR91_ENST00000344400.5_3'UTR	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	707										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGGCCACCTAGGCTCAAGCA	0.587																																																0													73	60	65					7																	134871027		2203	4300	6503	SO:0001583	missense	29062			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.2120T>A	chr7.hg19:g.134871027A>T	ENSP00000346466:p.Leu707Gln		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	hg19	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	A	31	5.060981	0.93846	.	.	ENSG00000105875	ENST00000354475;ENST00000423565	T;T	0.68479	-0.33;-0.33	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80008	0.4545	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82174	-0.0588	10	0.87932	D	0	-16.5822	15.6802	0.77360	1.0:0.0:0.0:0.0	.	707	A4D1P6	WDR91_HUMAN	Q	707;672	ENSP00000346466:L707Q;ENSP00000392555:L672Q	ENSP00000346466:L707Q	L	-	2	0	WDR91	134521567	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.103000	0.63969	0.533000	0.62120	CTA		0.587	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		T	134871027	A	T	134871027	3	4	65	1	0	0	0	0	1	0	0	0	17343	420	15	5	127	5	WDR91	7	134871027	Missense_Mutation	SNP	A	TCGA-A4-7584-01A-11D-2136-08	52286313	134871027	24267636	26	4519											
FAM164A	51101	hgsc.bcm.edu	37	8	79578395	79578395	+	Silent	SNP	G	G	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr8:79578395G>C	ENST00000263849.4	+	1	114	c.12G>C	c.(10-12)ctG>ctC	p.L4L	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	4							metal ion binding (GO:0046872)										TGGAGGGACTGGAAGGTGAGG	0.672																																																0													112	84	93					8																	79578395		2187	4279	6466	SO:0001819	synonymous_variant	51101				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.12G>C	chr8.hg19:g.79578395G>C			Q9Y372	Silent	SNP	ENST00000263849.4	hg19	CCDS6223.1																																																																																				0.672	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		C	79578395	G	C	79578395	2	2	65	1	0	0	0	0	0	0	0	1	5480	1335	47	4		4	FAM164A	8	79578395	Silent	SNP	G	TCGA-A4-7584-01A-11D-2136-08		79578395	66785627	27	4520											
EFR3A	23167	hgsc.bcm.edu	37	8	132968018	132968018	+	Silent	SNP	C	C	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr8:132968018C>T	ENST00000254624.5	+	7	867	c.642C>T	c.(640-642)cgC>cgT	p.R214R	EFR3A_ENST00000519656.1_Silent_p.R178R|EFR3A_ENST00000334503.4_Silent_p.R214R	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	214						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTTTTAGTCGCATAGGCCCTC	0.358																																																0													108	111	110					8																	132968018		2203	4300	6503	SO:0001819	synonymous_variant	23167			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.642C>T	chr8.hg19:g.132968018C>T			A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	hg19	CCDS34942.2																																																																																				0.358	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		T	132968018	C	T	132968018	2	4	65	1	0	0	0	0	0	0	0	1	4960	697	25	2		2	EFR3A	8	132968018	Silent	SNP	C	TCGA-A4-7584-01A-11D-2136-08	53389623	132968018	13396004	28	4521											
USP20	10868	hgsc.bcm.edu	37	9	132623219	132623219	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr9:132623219T>C	ENST00000315480.4	+	7	492	c.334T>C	c.(334-336)Tcc>Ccc	p.S112P	USP20_ENST00000372429.3_Missense_Mutation_p.S112P|USP20_ENST00000358355.1_Missense_Mutation_p.S112P			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	112					endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AACACAGGACTCCCCGCCACC	0.567																																																0													146	150	149					9																	132623219		1918	4121	6039	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.334T>C	chr9.hg19:g.132623219T>C	ENSP00000313811:p.Ser112Pro		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	hg19	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.787014	0.31593	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.20463	2.07;2.07;2.07	5.66	1.8	0.24995	.	0.866856	0.10550	N	0.661611	T	0.16342	0.0393	L	0.46157	1.445	0.38108	D	0.937486	B	0.02656	0.0	B	0.04013	0.001	T	0.10337	-1.0634	10	0.30078	T	0.28	.	4.2306	0.10601	0.1241:0.0686:0.1298:0.6776	.	112	Q9Y2K6	UBP20_HUMAN	P	112	ENSP00000361506:S112P;ENSP00000313811:S112P;ENSP00000351122:S112P	ENSP00000313811:S112P	S	+	1	0	USP20	131663040	0.020000	0.18652	0.710000	0.30468	0.947000	0.59692	1.028000	0.30128	0.407000	0.25591	0.459000	0.35465	TCC		0.567	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			C	132623219	T	C	132623219	3	2	65	1	0	0	0	0	1	0	0	0	17057	1551	54	3	352	3	USP20	9	132623219	Missense_Mutation	SNP	T	TCGA-A4-7584-01A-11D-2136-08		132623219	8590212	29	4522											
AKR1C3	8644	hgsc.bcm.edu	37	10	5139704	5139704	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr10:5139704G>C	ENST00000380554.3	+	3	983	c.331G>C	c.(331-333)Gtt>Ctt	p.V111L	AKR1C3_ENST00000439082.2_5'UTR|AKR1C3_ENST00000605149.1_Missense_Mutation_p.V88L|AKR1C3_ENST00000470862.2_3'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	111					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	ATTGGACTATGTTGACCTCTA	0.403																																																0													146	138	141					10																	5139704		2203	4300	6503	SO:0001583	missense	8644			L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.331G>C	chr10.hg19:g.5139704G>C	ENSP00000369927:p.Val111Leu		A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	hg19	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.596157	0.00857	.	.	ENSG00000196139	ENST00000380554	T	0.47528	0.84	1.62	0.671	0.17929	NADP-dependent oxidoreductase domain (3);	0.237158	0.29558	N	0.011809	T	0.23410	0.0566	N	0.17564	0.495	0.80722	D	1	B;B;B	0.23249	0.082;0.005;0.005	B;B;B	0.30251	0.113;0.046;0.046	T	0.06972	-1.0797	10	0.07325	T	0.83	.	4.0982	0.10002	0.3926:0.0:0.6074:0.0	.	111;111;111	B4DKT3;P42330;Q2XPP3	.;AK1C3_HUMAN;.	L	111	ENSP00000369927:V111L	ENSP00000369927:V111L	V	+	1	0	AKR1C3	5129704	1.000000	0.71417	0.072000	0.20136	0.187000	0.23431	2.141000	0.42168	0.234000	0.21139	0.305000	0.20034	GTT		0.403	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		C	5139704	G	C	5139704	3	2	65	1	0	0	0	0	1	0	0	0	471	1377	48	4	341	4	AKR1C3	10	5139704	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08		5139704	130395043	30	4523											
TACR2	6865	hgsc.bcm.edu	37	10	71175766	71175766	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr10:71175766A>T	ENST00000373306.4	-	1	857	c.314T>A	c.(313-315)tTc>tAc	p.F105Y		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	105					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GAAGTAGCAGAAGGCACGGCC	0.552																																																0													92	81	85					10																	71175766		2203	4300	6503	SO:0001583	missense	6865				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"GPCR / Class A : Tachykinin receptors"	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.314T>A	chr10.hg19:g.71175766A>T	ENSP00000362403:p.Phe105Tyr		A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	hg19	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	A	7.919	0.738168	0.15574	.	.	ENSG00000075073	ENST00000373306	T	0.38240	1.15	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.063724	0.64402	D	0.000003	T	0.11922	0.0290	N	0.01493	-0.835	0.42246	D	0.99195	B	0.22146	0.065	B	0.20577	0.03	T	0.20140	-1.0284	10	0.02654	T	1	.	10.5582	0.45129	0.8559:0.0:0.0:0.1441	.	105	P21452	NK2R_HUMAN	Y	105	ENSP00000362403:F105Y	ENSP00000362403:F105Y	F	-	2	0	TACR2	70845772	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.205000	0.51090	2.093000	0.63338	0.460000	0.39030	TTC		0.552	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			T	71175766	A	T	71175766	3	4	65	1	0	0	0	0	1	0	0	0	15511	246	9	5	902	5	TACR2	10	71175766	Missense_Mutation	SNP	A	TCGA-A4-7584-01A-11D-2136-08	66036062	71175766	64358981	31	4524											
MRPL17	63875	hgsc.bcm.edu	37	11	6703594	6703594	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr11:6703594G>A	ENST00000288937.6	-	3	387	c.283C>T	c.(283-285)Cct>Tct	p.P95S	MRPL17_ENST00000532676.1_5'UTR	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	95					translation (GO:0006412)	mitochondrial inner membrane (GO:0005743)|ribosome (GO:0005840)	protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGTACCGAGGGGCCAGTACT	0.473																																																0													115	114	114					11																	6703594		2201	4296	6497	SO:0001583	missense	63875			AB051620	CCDS31412.1	11p15.5-p15.4	2012-09-13				ENSG00000158042		"Mitochondrial ribosomal proteins / large subunits"	14053	protein-coding gene	gene with protein product		611830					Standard	NM_022061		Approved	RPML26, MRP-L26	uc001men.2	Q9NRX2		ENST00000288937.6:c.283C>T	chr11.hg19:g.6703594G>A	ENSP00000288937:p.Pro95Ser		D3DQU3|Q6IAH8|Q96Q53|Q9C066	Missense_Mutation	SNP	ENST00000288937.6	hg19	CCDS31412.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970737	0.74246	.	.	ENSG00000158042	ENST00000288937;ENST00000532203	.	.	.	5.73	5.73	0.89815	.	0.051442	0.85682	D	0.000000	D	0.83275	0.5219	M	0.85041	2.73	0.58432	D	0.999999	P	0.52061	0.95	D	0.65010	0.931	D	0.85197	0.1013	9	0.72032	D	0.01	-5.0434	17.4724	0.87649	0.0:0.0:1.0:0.0	.	95	Q9NRX2	RM17_HUMAN	S	95;72	.	ENSP00000288937:P95S	P	-	1	0	MRPL17	6660170	1.000000	0.71417	0.999000	0.59377	0.565000	0.35776	6.015000	0.70791	2.720000	0.93068	0.555000	0.69702	CCT		0.473	MRPL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384544.1	NM_022061		A	6703594	G	A	6703594	3	1	65	1	0	0	0	0	1	0	0	0	9784	1232	43	2	248	2	MRPL17	11	6703594	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08		6703594	128302922	32	4525											
FDXACB1	91893	hgsc.bcm.edu	37	11	111749725	111749725	+	Silent	SNP	A	A	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr11:111749725A>G	ENST00000260257.4	-	1	179	c.132T>C	c.(130-132)gaT>gaC	p.D44D	C11orf1_ENST00000529270.1_5'Flank|C11orf1_ENST00000528125.1_5'UTR|C11orf1_ENST00000530214.1_5'Flank|ALG9_ENST00000524880.1_Silent_p.D44D|C11orf1_ENST00000260276.3_5'Flank|ALG9_ENST00000527377.1_5'Flank|FDXACB1_ENST00000542429.1_5'UTR	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	44					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						AGGCCAGTGGATCCCGAGCCA	0.667											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													16	22	20					11																	111749725		1936	4151	6087	SO:0001819	synonymous_variant	91893				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.132T>C	chr11.hg19:g.111749725A>G		1437	A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	hg19	CCDS44729.1																																																																																				0.667	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		G	111749725	A	G	111749725	2	3	65	1	0	0	0	0	0	0	0	1	5808	330	12	3		3	FDXACB1	11	111749725	Silent	SNP	A	TCGA-A4-7584-01A-11D-2136-08	105046131	111749725	23256791	33	4526											
MANSC1	54682	hgsc.bcm.edu	37	12	12483592	12483592	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:12483592delT	ENST00000535902.1	-	4	1228	c.665delA	c.(664-666)aatfs	p.N222fs	MANSC1_ENST00000545735.1_Frame_Shift_Del_p.N141fs|MANSC1_ENST00000396349.3_Frame_Shift_Del_p.N188fs			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	222						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CGCACTCACATTTTCAGGCAG	0.502																																																0													101	106	104					12																	12483592		2203	4300	6503	SO:0001589	frameshift_variant	54682			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.665delA	chr12.hg19:g.12483592delT	ENSP00000438205:p.Asn222fs		Q8NEC1|Q9NW60	Frame_Shift_Del	DEL	ENST00000535902.1	hg19	CCDS8648.1																																																																																				0.502	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		-	12483592	T	-	12483592	7	5	65	1	0	1	0	1	0	0	0	0	9226	1493	52	0	634	0	MANSC1	12	12483592	Frame_Shift_Del	DEL	T	TCGA-A4-7584-01A-11D-2136-08		12483592	121368303	34	4527											
GUCY2C	2984	hgsc.bcm.edu	37	12	14772233	14772233	+	Silent	SNP	A	A	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:14772233A>C	ENST00000261170.3	-	24	2923	c.2787T>G	c.(2785-2787)gcT>gcG	p.A929A	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	929	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CAACTCCAGCAGCACAGGGAC	0.483																																																0													95	93	93					12																	14772233		2203	4300	6503	SO:0001819	synonymous_variant	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2787T>G	chr12.hg19:g.14772233A>C			B2RMY6	Silent	SNP	ENST00000261170.3	hg19	CCDS8664.1																																																																																				0.483	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			C	14772233	A	C	14772233	2	2	65	1	0	0	0	0	0	0	0	1	6898	175	7	5		5	GUCY2C	12	14772233	Silent	SNP	A	TCGA-A4-7584-01A-11D-2136-08	2288641	14772233	119079662	35	4528											
CNTN1	1272	hgsc.bcm.edu	37	12	41316146	41316146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:41316146C>T	ENST00000551295.2	+	5	433	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	CNTN1_ENST00000360099.3_Nonsense_Mutation_p.Q106*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.Q95*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.Q106*|CNTN1_ENST00000547702.1_Nonsense_Mutation_p.Q106*|CNTN1_ENST00000547849.1_Nonsense_Mutation_p.Q106*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	106	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCCTGACAAACAGAAAGATGC	0.398																																																0													138	123	128					12																	41316146		2203	4300	6503	SO:0001587	stop_gained	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.316C>T	chr12.hg19:g.41316146C>T	ENSP00000447006:p.Gln106*		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Nonsense_Mutation	SNP	ENST00000551295.2	hg19	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063249	0.76187	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	.	.	.	5.65	4.74	0.60224	.	0.687302	0.15218	N	0.274073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	7.1246	0.25465	0.0:0.7637:0.0:0.2363	.	.	.	.	X	106;106;106;106;106;95	.	ENSP00000325660:Q106X	Q	+	1	0	CNTN1	39602413	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.250000	0.32850	2.833000	0.97629	0.585000	0.79938	CAG		0.398	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		T	41316146	C	T	41316146	4	4	65	1	0	0	0	0	0	1	0	0	3642	479	17	2	330	2	CNTN1	12	41316146	Nonsense_Mutation	SNP	C	TCGA-A4-7584-01A-11D-2136-08	26543913	41316146	92535749	36	4529											
KIF5A	3798	hgsc.bcm.edu	37	12	57975209	57975209	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:57975209C>T	ENST00000455537.2	+	25	3041	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	KIF5A_ENST00000286452.5_Missense_Mutation_p.R834W	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	923	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAAACCCGTCCGGCCTGGCCA	0.547																																																0													74	75	75					12																	57975209		2203	4300	6503	SO:0001583	missense	3798			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2767C>T	chr12.hg19:g.57975209C>T	ENSP00000408979:p.Arg923Trp		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	hg19	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159251	0.78226	.	.	ENSG00000155980	ENST00000455537;ENST00000286452;ENST00000547989	T;T	0.81078	-1.38;-1.45	4.52	3.59	0.41128	.	0.201593	0.32343	N	0.006224	D	0.86715	0.5999	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	D	0.87757	0.2596	10	0.87932	D	0	.	12.7339	0.57212	0.1717:0.8283:0.0:0.0	.	834;923	B7Z2M7;Q12840	.;KIF5A_HUMAN	W	923;834;17	ENSP00000408979:R923W;ENSP00000286452:R834W	ENSP00000286452:R834W	R	+	1	2	KIF5A	56261476	1.000000	0.71417	0.989000	0.46669	0.881000	0.50899	5.716000	0.68437	1.212000	0.43366	0.561000	0.74099	CGG		0.547	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		T	57975209	C	T	57975209	3	4	65	1	0	0	0	0	1	0	0	0	8307	643	23	1	2865	1	KIF5A	12	57975209	Missense_Mutation	SNP	C	TCGA-A4-7584-01A-11D-2136-08	16659063	57975209	75876686	37	4530											
NAV3	89795	hgsc.bcm.edu	37	12	78604234	78604234	+	Silent	SNP	C	C	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:78604234C>T	ENST00000397909.2	+	40	7268	c.7095C>T	c.(7093-7095)tgC>tgT	p.C2365C	NAV3_ENST00000266692.7_Silent_p.C2166C|NAV3_ENST00000536525.2_Silent_p.C2343C|NAV3_ENST00000228327.6_Silent_p.C2343C|NAV3_ENST00000541270.1_Silent_p.C195C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2365						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACAAAGCTGCGACAGCGAAA	0.403										HNSCC(70;0.22)																																						0													55	58	57					12																	78604234		1952	4172	6124	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.7095C>T	chr12.hg19:g.78604234C>T			Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	hg19		.	.	.	.	.	.	.	.	.	.	C	0.069	-1.207030	0.01568	.	.	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.35	-7.82	0.01205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.2288	19.8674	0.96824	0.0:0.1434:0.0:0.8566	.	.	.	.	X	1238;233	.	.	R	+	1	2	NAV3	77128365	0.348000	0.24861	0.594000	0.28785	0.129000	0.20672	-0.324000	0.07986	-1.610000	0.01583	-2.173000	0.00322	CGA		0.403	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		T	78604234	C	T	78604234	2	4	65	1	0	0	0	0	0	0	0	1	10187	776	27	1		1	NAV3	12	78604234	Silent	SNP	C	TCGA-A4-7584-01A-11D-2136-08	20629025	78604234	55247661	38	4531											
TBX5	6910	hgsc.bcm.edu	37	12	114793542	114793542	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:114793542C>G	ENST00000310346.4	-	9	2018	c.1352G>C	c.(1351-1353)gGa>gCa	p.G451A	TBX5_ENST00000405440.2_Missense_Mutation_p.G451A|TBX5_ENST00000349716.5_Missense_Mutation_p.G401A	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	451				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G451V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CATTCCCTCTCCCAGCTGTGG	0.662																																					NSCLC(152;1358 1980 4050 23898 40356)											1	Substitution - Missense(1)	lung(1)											27	29	28					12																	114793542		2203	4300	6503	SO:0001583	missense	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1352G>C	chr12.hg19:g.114793542C>G	ENSP00000309913:p.Gly451Ala		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	hg19	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817720	0.50633	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.54279	0.58;0.58;0.58	5.27	5.27	0.74061	.	0.682044	0.14424	N	0.320472	T	0.45538	0.1347	L	0.32530	0.975	0.80722	D	1	B	0.12013	0.005	B	0.12837	0.008	T	0.28902	-1.0029	10	0.42905	T	0.14	.	15.949	0.79817	0.0:0.8652:0.1348:0.0	.	451	Q99593	TBX5_HUMAN	A	401;451;348;451	ENSP00000337723:G401A;ENSP00000309913:G451A;ENSP00000384152:G451A	ENSP00000309913:G451A	G	-	2	0	TBX5	113277925	0.959000	0.32827	0.383000	0.26132	0.922000	0.55478	2.879000	0.48522	2.463000	0.83235	0.655000	0.94253	GGA		0.662	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		G	114793542	C	G	114793542	3	3	65	1	0	0	0	0	1	0	0	0	15666	855	30	4	208	4	TBX5	12	114793542	Missense_Mutation	SNP	C	TCGA-A4-7584-01A-11D-2136-08	36189308	114793542	19058353	39	4532											
ABCB9	23457	hgsc.bcm.edu	37	12	123429030	123429030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr12:123429030delA	ENST00000542678.1	-	7	4126	c.1288delT	c.(1288-1290)tacfs	p.Y430fs	ABCB9_ENST00000392439.3_Frame_Shift_Del_p.Y430fs|ABCB9_ENST00000280560.8_Frame_Shift_Del_p.Y430fs|ABCB9_ENST00000540285.1_Frame_Shift_Del_p.Y430fs|ABCB9_ENST00000442833.2_Frame_Shift_Del_p.Y430fs|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000442028.2_Frame_Shift_Del_p.Y430fs|ABCB9_ENST00000344275.7_Frame_Shift_Del_p.Y430fs|ABCB9_ENST00000346530.5_Intron			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	430	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		TGGCCCCCGTAGTAGAGGATG	0.592																																					Ovarian(49;786 1333 9175 38236)											0													139	120	127					12																	123429030		2203	4300	6503	SO:0001589	frameshift_variant	23457			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1288delT	chr12.hg19:g.123429030delA	ENSP00000440288:p.Tyr430fs		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Frame_Shift_Del	DEL	ENST00000542678.1	hg19	CCDS9241.1																																																																																				0.592	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		-	123429030	A	-	123429030	7	5	65	1	0	1	0	1	0	0	0	0	48	420	15	0	1036	0	ABCB9	12	123429030	Frame_Shift_Del	DEL	A	TCGA-A4-7584-01A-11D-2136-08	8635488	123429030	10422865	40	4533											
KCTD4	386618	hgsc.bcm.edu	37	13	45768535	45768535	+	Silent	SNP	G	G	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr13:45768535G>A	ENST00000379108.1	-	1	317	c.168C>T	c.(166-168)gaC>gaT	p.D56D	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000405872.1_Silent_p.D56D			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	56	BTB.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		CAAGGAAAGTGTCTGGGTACT	0.413																																																0													266	265	265					13																	45768535		2203	4300	6503	SO:0001819	synonymous_variant	386618			BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 4"				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.168C>T	chr13.hg19:g.45768535G>A			Q5W0P9	Silent	SNP	ENST00000379108.1	hg19	CCDS9396.1																																																																																				0.413	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1			A	45768535	G	A	45768535	2	1	65	1	0	0	0	0	0	0	0	1	8113	1368	48	2		2	KCTD4	13	45768535	Silent	SNP	G	TCGA-A4-7584-01A-11D-2136-08		45768535	69401343	41	4534											
SDCCAG1	9147	hgsc.bcm.edu	37	14	50256253	50256253	+	Silent	SNP	C	C	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr14:50256253C>T	ENST00000298310.5	-	27	3107	c.2658G>A	c.(2656-2658)caG>caA	p.Q886Q	NEMF_ENST00000546046.1_Silent_p.Q865Q|NEMF_ENST00000545773.1_Silent_p.Q844Q|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Silent_p.Q86Q			O60524	NEMF_HUMAN	nuclear export mediator factor	886					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						CTTCTTCATCCTGGTCTTTGT	0.328																																																0													130	123	125					14																	50256253		2203	4300	6503	SO:0001819	synonymous_variant	9147			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.2658G>A	chr14.hg19:g.50256253C>T			A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	ENST00000298310.5	hg19	CCDS9694.1																																																																																				0.328	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		T	50256253	C	T	50256253	2	4	65	1	0	0	0	0	0	0	0	1	13963	680	24	2		2	SDCCAG1	14	50256253	Silent	SNP	C	TCGA-A4-7584-01A-11D-2136-08		50256253	57093287	42	4535											
VRK1	7443	hgsc.bcm.edu	37	14	97321567	97321567	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr14:97321567T>A	ENST00000216639.3	+	8	732	c.583T>A	c.(583-585)Ttg>Atg	p.L195M		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		ATAGGTGTACTTGGTAGATTA	0.388																																																0													199	195	196					14																	97321567		2203	4300	6503	SO:0001583	missense	7443			AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.583T>A	chr14.hg19:g.97321567T>A	ENSP00000216639:p.Leu195Met		Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	hg19	CCDS9947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.34|19.34	3.808500|3.808500	0.70797|0.70797	.|.	.|.	ENSG00000100749|ENSG00000100749	ENST00000557222|ENST00000216639	.|T	.|0.72835	.|-0.69	5.95|5.95	1.04|1.04	0.20106|0.20106	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.81024|0.81024	0.4737|0.4737	M|M	0.76938|0.76938	2.355|2.355	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.78823|0.78823	-0.2052|-0.2052	6|10	.|0.66056	.|D	.|0.02	-11.377|-11.377	9.4931|9.4931	0.38971|0.38971	0.0:0.2599:0.0:0.7401|0.0:0.2599:0.0:0.7401	.|.	.|195	.|Q99986	.|VRK1_HUMAN	H|M	51|195	.|ENSP00000216639:L195M	.|ENSP00000216639:L195M	L|L	+|+	2|1	0|2	VRK1|VRK1	96391320|96391320	0.992000|0.992000	0.36948|0.36948	0.995000|0.995000	0.50966|0.50966	0.985000|0.985000	0.73830|0.73830	0.976000|0.976000	0.29462|0.29462	-0.050000|-0.050000	0.13356|0.13356	0.533000|0.533000	0.62120|0.62120	CTT|TTG		0.388	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		A	97321567	T	A	97321567	3	1	65	1	0	0	0	0	1	0	0	0	17224	1606	56	5	609	5	VRK1	14	97321567	Missense_Mutation	SNP	T	TCGA-A4-7584-01A-11D-2136-08	47065314	97321567	10027973	43	4536											
FAM82A2	55177	hgsc.bcm.edu	37	15	41037304	41037305	+	Frame_Shift_Ins	INS	-	-	GCACT			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr15:41037304_41037305insGCACT	ENST00000260385.6	-	4	1744_1745	c.677_678insAGTGC	c.(676-678)gccfs	p.-226fs	RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.-226fs|RMDN3_ENST00000558560.1_Intron			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CAGCCTCCAGGGCACTGGAGGC	0.599																																																0																																										SO:0001589	frameshift_variant	55177			AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.673_677dupAGTGC	chr15.hg19:g.41037305_41037309dupGCACT	ENSP00000260385:p.Ala226fs		A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Ins	INS	ENST00000260385.6	hg19	CCDS10063.1																																																																																				0.599	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		GCACT	41037305	-	GCACT	41037304	7	5	65	1	0	1	1	0	0	0	0	0	5633	1219	43	0	770	0	FAM82A2	15	41037304	Frame_Shift_Ins	INS	-	TCGA-A4-7584-01A-11D-2136-08		41037304	61494088	44	4537											
DUOX1	53905	hgsc.bcm.edu	37	15	45453182	45453182	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr15:45453182delC	ENST00000321429.4	+	30	4257	c.3850delC	c.(3850-3852)cccfs	p.P1284fs	DUOX1_ENST00000561166.1_Frame_Shift_Del_p.P930fs|DUOX1_ENST00000389037.3_Frame_Shift_Del_p.P1284fs|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1284	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GGAGCTGCTGCCCTCAGGTAC	0.617																																																0													81	65	71					15																	45453182		2198	4298	6496	SO:0001589	frameshift_variant	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3850delC	chr15.hg19:g.45453182delC	ENSP00000317997:p.Pro1284fs		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Frame_Shift_Del	DEL	ENST00000321429.4	hg19	CCDS32221.1																																																																																				0.617	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		-	45453182	C	-	45453182	7	5	65	1	0	1	0	1	0	0	0	0	4802	739	26	0	3960	0	DUOX1	15	45453182	Frame_Shift_Del	DEL	C	TCGA-A4-7584-01A-11D-2136-08	4415878	45453182	57078210	45	4538											
DUOX1	53905	hgsc.bcm.edu	37	15	45456067	45456068	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr15:45456067_45456068GT>TA	ENST00000321429.4	+	34	4891_4892	c.4484_4485GT>TA	c.(4483-4485)cGT>cTA	p.R1495L	DUOX1_ENST00000561166.1_Missense_Mutation_p.R1141L|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1495L|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1495					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CACTTTGGCCGTCCCCCCTTTG	0.55																																																0																																										SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		Exception_encountered	chr15.hg19:g.45456067_45456068delinsTA	ENSP00000317997:p.Arg1495Leu		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation|Silent	SNP	ENST00000321429.4	hg19	CCDS32221.1																																																																																				0.55	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		TA	45456068	GT	TA	45456067	3	4	65	1	0	0	0	0	1	0	0	0	4802	1145	40	4	4610	4	DUOX1	15	45456067	Missense_Mutation	DNP	GT	TCGA-A4-7584-01A-11D-2136-08	2885	45456067	57075325	46	4539											
ZNF609	23060	hgsc.bcm.edu	37	15	64791991	64791991	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr15:64791991T>C	ENST00000326648.3	+	1	501	c.373T>C	c.(373-375)Tca>Cca	p.S125P	ZNF609_ENST00000416172.1_Missense_Mutation_p.S125P	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	125						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGGGGCGCTCAGGAGATGG	0.567																																																0													44	48	46					15																	64791991		2203	4300	6503	SO:0001583	missense	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.373T>C	chr15.hg19:g.64791991T>C	ENSP00000316527:p.Ser125Pro		Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	hg19	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	.	5.590	0.293619	0.10567	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	T	0.42513	0.97	5.5	3.1	0.35709	.	0.722344	0.13093	N	0.414351	T	0.24699	0.0599	N	0.16368	0.405	0.40301	D	0.97861	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.05241	-1.0897	10	0.21540	T	0.41	-18.1137	8.0215	0.30412	0.0:0.0671:0.2567:0.6762	.	125;125	E7ERY8;O15014	.;ZN609_HUMAN	P	125	ENSP00000316527:S125P	ENSP00000316527:S125P	S	+	1	0	ZNF609	62579044	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.673000	0.37534	0.419000	0.25927	-0.322000	0.08575	TCA		0.567	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		C	64791991	T	C	64791991	3	2	65	1	0	0	0	0	1	0	0	0	18040	1551	54	3	375	3	ZNF609	15	64791991	Missense_Mutation	SNP	T	TCGA-A4-7584-01A-11D-2136-08	19335924	64791991	37739401	47	4540											
CLCN7	1186	hgsc.bcm.edu	37	16	1505793	1505793	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr16:1505793C>T	ENST00000382745.4	-	11	1525	c.920G>A	c.(919-921)gGg>gAg	p.G307E	CLCN7_ENST00000448525.1_Missense_Mutation_p.G283E|CLCN7_ENST00000262318.8_Missense_Mutation_p.G283E	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	307					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GAACAGGACCCCACCTGGAAG	0.642																																																0													89	74	79					16																	1505793		2199	4300	6499	SO:0001583	missense	1186			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.920G>A	chr16.hg19:g.1505793C>T	ENSP00000372193:p.Gly307Glu		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	hg19	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854384	0.71719	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.98701	-5.08;-5.08	5.13	5.13	0.70059	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.99530	0.9832	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97845	1.0271	10	0.87932	D	0	-37.9855	17.1357	0.86739	0.0:1.0:0.0:0.0	.	283;307	E9PDB9;P51798	.;CLCN7_HUMAN	E	283;260;307;249	ENSP00000410907:G283E;ENSP00000372193:G307E	ENSP00000262318:G260E	G	-	2	0	CLCN7	1445794	1.000000	0.71417	0.996000	0.52242	0.531000	0.34715	7.468000	0.80943	2.387000	0.81309	0.313000	0.20887	GGG		0.642	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		T	1505793	C	T	1505793	3	4	65	1	0	0	0	0	1	0	0	0	3470	623	22	2	1557	2	CLCN7	16	1505793	Missense_Mutation	SNP	C	TCGA-A4-7584-01A-11D-2136-08		1505793	88848960	48	4541											
HEATR3	55027	hgsc.bcm.edu	37	16	50112741	50112741	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr16:50112741G>T	ENST00000299192.7	+	7	1044	c.853G>T	c.(853-855)Gga>Tga	p.G285*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.G199*	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	285										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGAAGTTTTGGGAATGGATGC	0.373																																																0													79	78	78					16																	50112741		2198	4300	6498	SO:0001587	stop_gained	55027			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.853G>T	chr16.hg19:g.50112741G>T	ENSP00000299192:p.Gly285*		A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Nonsense_Mutation	SNP	ENST00000299192.7	hg19	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	39	7.589360	0.98374	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.61	4.66	0.58398	.	0.526535	0.23112	N	0.051781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	10.9314	0.47220	0.1434:0.0:0.8566:0.0	.	.	.	.	X	199;285	.	ENSP00000285767:G199X	G	+	1	0	HEATR3	48670242	1.000000	0.71417	0.826000	0.32828	0.973000	0.67179	5.765000	0.68834	1.516000	0.48900	-0.277000	0.10078	GGA		0.373	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		T	50112741	G	T	50112741	4	4	65	1	0	0	0	0	0	1	0	0	7031	1233	43	4	879	4	HEATR3	16	50112741	Nonsense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08	48606948	50112741	40242012	49	4542											
CIAPIN1	57019	hgsc.bcm.edu	37	16	57463170	57463170	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr16:57463170C>T	ENST00000569979.1	-	6	699	c.653G>A	c.(652-654)cGc>cAc	p.R218H	CIAPIN1_ENST00000567518.1_Missense_Mutation_p.R271H|CIAPIN1_ENST00000568940.1_Silent_p.P245P|CIAPIN1_ENST00000569370.1_Silent_p.P245P|CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.R284H|CIAPIN1_ENST00000565961.1_Silent_p.P218P					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GCTGGCACAGCGGAAGGCATC	0.532																																																0													56	57	57					16																	57463170		2015	4178	6193	SO:0001583	missense	57019			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.653G>A	chr16.hg19:g.57463170C>T	ENSP00000458000:p.Arg218His			Missense_Mutation	SNP	ENST00000569979.1	hg19		.	.	.	.	.	.	.	.	.	.	C	34	5.381122	0.95945	.	.	ENSG00000005194	ENST00000394391	T	0.68181	-0.31	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.87184	0.6114	H	0.95539	3.685	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91214	0.5001	10	0.72032	D	0.01	-16.045	17.0668	0.86561	0.0:1.0:0.0:0.0	.	271;284	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	H	284	ENSP00000377914:R284H	ENSP00000377914:R284H	R	-	2	0	CIAPIN1	56020671	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.141000	0.77330	2.347000	0.79759	0.561000	0.74099	CGC		0.532	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		T	57463170	C	T	57463170	3	4	65	1	0	0	0	0	1	0	0	0	3421	768	27	1	91	1	CIAPIN1	16	57463170	Missense_Mutation	SNP	C	TCGA-A4-7584-01A-11D-2136-08	7350429	57463170	32891583	50	4543											
DNAH2	146754	hgsc.bcm.edu	37	17	7727461	7727461	+	Missense_Mutation	SNP	G	G	A	rs368019673		TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:7727461G>A	ENST00000572933.1	+	76	12961	c.11501G>A	c.(11500-11502)cGa>cAa	p.R3834Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3834Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3834	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAACCCCACGATCCCCACTC	0.597																																																0								G	GLN/ARG	0,4406		0,0,2203	103	87	93		11501	4.1	0.2	17		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3834/4428	7727461	1,13005	2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11501G>A	chr17.hg19:g.7727461G>A	ENSP00000458355:p.Arg3834Gln		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690038	0.29962	0.0	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.08193	3.12	5.03	4.06	0.47325	Dynein heavy chain (1);	0.102365	0.48286	D	0.000190	T	0.04227	0.0117	N	0.25201	0.72	0.44985	D	0.998	B;B	0.32829	0.227;0.386	B;B	0.22753	0.024;0.041	T	0.42396	-0.9454	10	0.10111	T	0.7	.	8.878	0.35356	0.1665:0.0:0.8335:0.0	.	3795;3834	Q9P225-2;Q9P225	.;DYH2_HUMAN	Q	3795;3834	ENSP00000373825:R3834Q	ENSP00000353818:R3795Q	R	+	2	0	DNAH2	7668186	0.186000	0.23225	0.167000	0.22817	0.981000	0.71138	2.589000	0.46145	2.350000	0.79820	0.511000	0.50034	CGA		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7727461	G	A	7727461	3	1	65	1	0	0	0	0	1	0	0	0	4604	1058	37	1	11799	1	DNAH2	17	7727461	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08		7727461	73467749	51	4544											
EFCAB5	374786	hgsc.bcm.edu	37	17	28407885	28407885	+	Silent	SNP	G	G	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:28407885G>C	ENST00000394835.3	+	17	3504	c.3312G>C	c.(3310-3312)ctG>ctC	p.L1104L	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.L980L	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1104							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTTCATTCCTGGCTCTGCCTC	0.438																																																0													91	88	89					17																	28407885		1881	4112	5993	SO:0001819	synonymous_variant	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3312G>C	chr17.hg19:g.28407885G>C			B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	hg19	CCDS11254.2																																																																																				0.438	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		C	28407885	G	C	28407885	2	2	65	1	0	0	0	0	0	0	0	1	4940	1335	47	4		4	EFCAB5	17	28407885	Silent	SNP	G	TCGA-A4-7584-01A-11D-2136-08	20680424	28407885	52787325	52	4545											
KRT32	3882	hgsc.bcm.edu	37	17	39622089	39622090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:39622089_39622090insC	ENST00000225899.3	-	3	746_747	c.643_644insG	c.(643-645)gacfs	p.D215fs	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	215	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GGCCTCCAGGTCAGCCTTGCAC	0.604																																																0																																										SO:0001589	frameshift_variant	3882			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.644dupG	chr17.hg19:g.39622090_39622090dupC	ENSP00000225899:p.Asp215fs			Frame_Shift_Ins	INS	ENST00000225899.3	hg19	CCDS11393.1																																																																																				0.604	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		C	39622090	-	C	39622089	7	5	65	1	0	1	1	0	0	0	0	0	8470	1667	58	0	722	0	KRT32	17	39622089	Frame_Shift_Ins	INS	-	TCGA-A4-7584-01A-11D-2136-08	11214204	39622089	41573121	53	4546											
HELZ	9931	hgsc.bcm.edu	37	17	65214853	65214853	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:65214853T>G	ENST00000358691.5	-	4	234	c.68A>C	c.(67-69)gAa>gCa	p.E23A	HELZ_ENST00000580168.1_Missense_Mutation_p.E23A|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	23						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GAGGGCCATTTCATAGTCCTG	0.473																																																0													127	119	121					17																	65214853		1892	4130	6022	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.68A>C	chr17.hg19:g.65214853T>G	ENSP00000351524:p.Glu23Ala		I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	hg19	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	t	15.08	2.728346	0.48833	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	T;T	0.75589	-0.95;-0.95	5.27	5.27	0.74061	.	0.046820	0.85682	D	0.000000	T	0.70692	0.3253	L	0.29908	0.895	0.58432	D	0.999999	B;P;B	0.48503	0.247;0.911;0.247	B;P;B	0.47941	0.078;0.562;0.078	T	0.75019	-0.3465	10	0.66056	D	0.02	-4.8435	15.1782	0.72931	0.0:0.0:0.0:1.0	.	23;23;23	B7ZLW2;F8WBX6;P42694	.;.;HELZ_HUMAN	A	23	ENSP00000351524:E23A;ENSP00000411144:E23A	ENSP00000351524:E23A	E	-	2	0	HELZ	62645315	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.414000	0.80117	1.980000	0.57719	0.455000	0.32223	GAA		0.473	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		G	65214853	T	G	65214853	3	3	65	1	0	0	0	0	1	0	0	0	7051	1783	62	5	5880	5	HELZ	17	65214853	Missense_Mutation	SNP	T	TCGA-A4-7584-01A-11D-2136-08	25592764	65214853	15980357	54	4547											
COG1	9382	hgsc.bcm.edu	37	17	71199203	71199203	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:71199203C>A	ENST00000299886.4	+	8	2218	c.2138C>A	c.(2137-2139)gCc>gAc	p.A713D		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	713					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGGCCACAGCCACCAGCTGG	0.512																																																0													80	74	76					17																	71199203		2203	4300	6503	SO:0001583	missense	9382				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.2138C>A	chr17.hg19:g.71199203C>A	ENSP00000299886:p.Ala713Asp		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	hg19	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.632096	0.67015	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.25414	1.8;1.81	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.37572	-0.9700	10	0.35671	T	0.21	-30.898	20.8794	0.99867	0.0:1.0:0.0:0.0	.	713;713;713	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	D	713	ENSP00000400111:A713D;ENSP00000299886:A713D	ENSP00000299886:A713D	A	+	2	0	COG1	68710798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.941000	0.99782	0.655000	0.94253	GCC		0.512	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			A	71199203	C	A	71199203	3	1	65	1	0	0	0	0	1	0	0	0	3659	739	26	4	2168	4	COG1	17	71199203	Missense_Mutation	SNP	C	TCGA-A4-7584-01A-11D-2136-08	5984350	71199203	9996007	55	4548											
FDXR	2232	hgsc.bcm.edu	37	17	72861043	72861043	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:72861043A>C	ENST00000293195.5	-	7	698	c.620T>G	c.(619-621)aTc>aGc	p.I207S	FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000420580.2_Missense_Mutation_p.I167S|FDXR_ENST00000583917.1_Missense_Mutation_p.I208S|FDXR_ENST00000582944.1_Missense_Mutation_p.I199S|FDXR_ENST00000455107.2_Missense_Mutation_p.I163S|FDXR_ENST00000544854.1_Missense_Mutation_p.I155S|FDXR_ENST00000413947.2_Missense_Mutation_p.I238S|FDXR_ENST00000581530.1_Missense_Mutation_p.I213S|FDXR_ENST00000442102.2_Missense_Mutation_p.I250S	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	207					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TGCCTTCGTGATGTCCGTTCT	0.592											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													96	80	86					17																	72861043		2203	4300	6503	SO:0001583	missense	2232			J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.620T>G	chr17.hg19:g.72861043A>C	ENSP00000293195:p.Ile207Ser	1140	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	hg19	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	a	15.15	2.747032	0.49257	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89931	0.6858	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.992;0.983;0.984;1.0;0.996;0.984;0.978;1.0;0.978;0.996	D	0.92675	0.6153	10	0.87932	D	0	-11.7911	15.4798	0.75517	1.0:0.0:0.0:0.0	.	167;250;238;205;155;238;207;199;207;213	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	S	167;155;213;163;250;238	ENSP00000414172:I167S;ENSP00000445432:I155S;ENSP00000390875:I163S;ENSP00000416515:I250S;ENSP00000408595:I238S	ENSP00000293195:I213S	I	-	2	0	FDXR	70372638	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.738000	0.68613	2.145000	0.66743	0.454000	0.30748	ATC		0.592	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		C	72861043	A	C	72861043	3	2	65	1	0	0	0	0	1	0	0	0	5809	333	12	5	879	5	FDXR	17	72861043	Missense_Mutation	SNP	A	TCGA-A4-7584-01A-11D-2136-08	1661840	72861043	8334167	56	4549											
ITGB4	3691	hgsc.bcm.edu	37	17	73752854	73752855	+	In_Frame_Ins	INS	-	-	GCTGCA	rs370378040		TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:73752854_73752855insGCTGCA	ENST00000200181.3	+	37	5154_5155	c.4967_4968insGCTGCA	c.(4966-4971)tcgctg>tcGCTGCAgctg	p.1659_1660insQL	ITGB4_ENST00000449880.2_In_Frame_Ins_p.1642_1643insQL|ITGB4_ENST00000579662.1_In_Frame_Ins_p.1589_1590insQL|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_In_Frame_Ins_p.1642_1643insQL|ITGB4_ENST00000450894.3_In_Frame_Ins_p.1589_1590insQL	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1659	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCCCAGACTCGCTGCAGCTGA	0.658																																																0																																										SO:0001652	inframe_insertion	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4968_4973dupGCTGCA	chr17.hg19:g.73752855_73752860dupGCTGCA	ENSP00000200181:p.Gln1658_Leu1659dup		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	In_Frame_Ins	INS	ENST00000200181.3	hg19	CCDS11727.1																																																																																				0.658	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			GCTGCA	73752855	-	GCTGCA	73752854	7	5	65	1	0	1	1	0	0	0	0	0	7899	893	31	0	5272	0	ITGB4	17	73752854	In_Frame_Ins	INS	-	TCGA-A4-7584-01A-11D-2136-08	891811	73752854	7442356	57	4550											
SLC26A11	6448	hgsc.bcm.edu	37	17	78197109	78197109	+	5'Flank	SNP	C	C	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr17:78197109C>G	ENST00000326317.6	-	0	0				SGSH_ENST00000570923.1_5'Flank|SGSH_ENST00000572208.1_5'Flank|SLC26A11_ENST00000361193.3_Silent_p.A162A|SLC26A11_ENST00000546047.2_Silent_p.A162A|SLC26A11_ENST00000411502.3_Silent_p.A162A|SLC26A11_ENST00000572725.1_Silent_p.A162A|SGSH_ENST00000534910.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCTGCTGCCGTCACCATCG	0.622																																																0													95	67	76					17																	78197109		2203	4300	6503	SO:0001631	upstream_gene_variant	284129			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			chr17.hg19:g.78197109C>G	Exception_encountered		A8K5E2	Silent	SNP	ENST00000326317.6	hg19	CCDS11770.1																																																																																				0.622	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		G	78197109	C	G	78197109	1	3	65	0	1	0	0	0	0	0	0	0	14522	639	23	4		4	SLC26A11	17	78197109	5'Flank	SNP	C	TCGA-A4-7584-01A-11D-2136-08	4444255	78197109	2998101	58	4551											
EMILIN2	84034	hgsc.bcm.edu	37	18	2913257	2913257	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr18:2913257G>T	ENST00000254528.3	+	8	3176	c.3017G>T	c.(3016-3018)gGg>gTg	p.G1006V	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	1006	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGGGGCCCGGGGGCATTCCAC	0.607																																																0													41	43	43					18																	2913257		2203	4300	6503	SO:0001583	missense	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.3017G>T	chr18.hg19:g.2913257G>T	ENSP00000254528:p.Gly1006Val		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	hg19	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989478	0.53934	.	.	ENSG00000132205	ENST00000254528;ENST00000308080	T	0.74842	-0.88	5.61	5.61	0.85477	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	D	0.83087	0.5178	L	0.48174	1.505	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79771	-0.1663	10	0.33940	T	0.23	-34.4219	20.0086	0.97443	0.0:0.0:1.0:0.0	.	1006	Q9BXX0	EMIL2_HUMAN	V	1006;283	ENSP00000254528:G1006V	ENSP00000254528:G1006V	G	+	2	0	EMILIN2	2903257	1.000000	0.71417	0.301000	0.25044	0.022000	0.10575	5.618000	0.67722	2.808000	0.96608	0.655000	0.94253	GGG		0.607	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		T	2913257	G	T	2913257	3	4	65	1	0	0	0	0	1	0	0	0	5096	1232	43	4	3047	4	EMILIN2	18	2913257	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08		2913257	75163991	59	4552											
C18orf34	374864	hgsc.bcm.edu	37	18	30926327	30926327	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr18:30926327T>C	ENST00000383096.3	-	9	688	c.506A>G	c.(505-507)gAg>gGg	p.E169G	CCDC178_ENST00000403303.1_Missense_Mutation_p.E169G|CCDC178_ENST00000406524.2_Missense_Mutation_p.E169G|CCDC178_ENST00000402325.1_Missense_Mutation_p.E169G|CCDC178_ENST00000300227.8_Missense_Mutation_p.E169G|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.E169G|CCDC178_ENST00000579947.1_Missense_Mutation_p.E169G			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	169																	ACGAATGGCCTCTGAGAGCAA	0.343																																																0													93	88	90					18																	30926327		2203	4300	6503	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.506A>G	chr18.hg19:g.30926327T>C	ENSP00000372576:p.Glu169Gly		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	hg19	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	T	9.274	1.046438	0.19748	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.57107	1.82;1.82;1.83;1.82;1.83;0.42	5.59	4.36	0.52297	.	.	.	.	.	T	0.65133	0.2662	L	0.54323	1.7	0.31006	N	0.719736	D;D;D;D	0.89917	1.0;0.996;0.996;0.996	D;D;D;D	0.74674	0.984;0.944;0.944;0.944	T	0.65520	-0.6148	9	0.59425	D	0.04	-20.3796	10.1932	0.43039	0.0:0.0:0.1668:0.8332	.	169;169;169;169	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	G	169	ENSP00000385591:E169G;ENSP00000372576:E169G;ENSP00000300227:E169G;ENSP00000385867:E169G;ENSP00000385234:E169G;ENSP00000382130:E169G	ENSP00000300227:E169G	E	-	2	0	C18orf34	29180325	1.000000	0.71417	0.996000	0.52242	0.418000	0.31294	3.210000	0.51129	2.129000	0.65627	0.455000	0.32223	GAG		0.343	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		C	30926327	T	C	30926327	3	2	65	1	0	0	0	0	1	0	0	0	1904	1551	54	3	2157	3	C18orf34	18	30926327	Missense_Mutation	SNP	T	TCGA-A4-7584-01A-11D-2136-08	28013070	30926327	47150921	60	4553											
MUC16	94025	hgsc.bcm.edu	37	19	9059472	9059472	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:9059472G>T	ENST00000397910.4	-	3	28177	c.27974C>A	c.(27973-27975)gCc>gAc	p.A9325D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9327	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAAGAGATGGCTTCTGTCCT	0.507																																																0													162	157	158					19																	9059472		1993	4179	6172	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27974C>A	chr19.hg19:g.9059472G>T	ENSP00000381008:p.Ala9325Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.093	0.202874	0.09704	.	.	ENSG00000181143	ENST00000397910	T	0.02812	4.15	2.43	-4.86	0.03132	.	.	.	.	.	T	0.02727	0.0082	N	0.19112	0.55	.	.	.	P	0.52316	0.952	P	0.50049	0.629	T	0.26677	-1.0096	8	0.87932	D	0	.	4.6628	0.12650	0.5463:0.176:0.2777:0.0	.	9325	B5ME49	.	D	9325	ENSP00000381008:A9325D	ENSP00000381008:A9325D	A	-	2	0	MUC16	8920472	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.962000	0.01514	-1.169000	0.02772	-0.382000	0.06688	GCC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9059472	G	T	9059472	3	4	65	1	0	0	0	0	1	0	0	0	9975	1203	42	4	15877	4	MUC16	19	9059472	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08		9059472	50069511	61	4554											
ZNF317	57693	hgsc.bcm.edu	37	19	9271676	9271676	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:9271676G>A	ENST00000247956.6	+	7	1660	c.1355G>A	c.(1354-1356)gGg>gAg	p.G452E	ZNF317_ENST00000360385.3_Missense_Mutation_p.G420E	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GATCTCTGCGGGAAAGCTTTC	0.547																																																0													62	59	60					19																	9271676		2203	4300	6503	SO:0001583	missense	57693			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1355G>A	chr19.hg19:g.9271676G>A	ENSP00000247956:p.Gly452Glu		Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	hg19	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795593	0.70452	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.07114	3.22;3.22	3.04	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000600	T	0.22627	0.0546	L	0.59436	1.845	0.47009	D	0.999286	D;D	0.89917	1.0;0.994	D;D	0.83275	0.996;0.924	T	0.01013	-1.1481	10	0.59425	D	0.04	-30.6663	12.2796	0.54757	0.0:0.0:1.0:0.0	.	420;452	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	E	452;420	ENSP00000247956:G452E;ENSP00000353554:G420E	ENSP00000247956:G452E	G	+	2	0	ZNF317	9132676	0.999000	0.42202	0.881000	0.34555	0.542000	0.35054	3.149000	0.50655	2.031000	0.59945	0.491000	0.48974	GGG		0.547	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		A	9271676	G	A	9271676	3	1	65	1	0	0	0	0	1	0	0	0	17840	1232	43	2	1377	2	ZNF317	19	9271676	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08	212204	9271676	49857307	62	4555											
C19orf57	79173	hgsc.bcm.edu	37	19	13996869	13996869	+	Splice_Site	SNP	C	C	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:13996869C>G	ENST00000586783.1	-	6	1668		c.e6-1		C19orf57_ENST00000591586.1_Splice_Site|C19orf57_ENST00000454313.1_Splice_Site|C19orf57_ENST00000346736.2_Splice_Site			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57						multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AAGGAAAGAGCTGGAAAGAGA	0.632																																																0													33	34	34					19																	13996869		2203	4300	6503	SO:0001630	splice_region_variant	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1669-1G>C	chr19.hg19:g.13996869C>G			Q13411|Q8N825|Q96D63|Q9BU49	Splice_Site	SNP	ENST00000586783.1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.061	0.994432	0.19043	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	.	.	.	3.01	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.45762	D	0.998659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7555	0.40500	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf57	13857869	0.176000	0.23096	0.016000	0.15963	0.050000	0.14768	2.605000	0.46283	2.000000	0.58554	0.563000	0.77884	.		0.632	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323	Intron	G	13996869	C	G	13996869	5	3	65	1	0	0	0	0	0	0	1	0	1941	811	28	4	253	4	C19orf57	19	13996869	Splice_Site	SNP	C	TCGA-A4-7584-01A-11D-2136-08	4725193	13996869	45132114	63	4556											
CD22	933	hgsc.bcm.edu	37	19	35828752	35828752	+	Silent	SNP	C	C	T			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:35828752C>T	ENST00000085219.5	+	5	879	c.813C>T	c.(811-813)aaC>aaT	p.N271N	CD22_ENST00000341773.6_Intron|CD22_ENST00000594250.1_Intron|CD22_ENST00000419549.2_Silent_p.N99N|CD22_ENST00000536635.2_Silent_p.N271N|CD22_ENST00000544992.2_Silent_p.N271N|CD22_ENST00000270311.6_Silent_p.N151N	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	271	Ig-like C2-type 2.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCAGCAGCAACCCGGAGTACA	0.567																																					Ovarian(42;1009 1133 23674 26041)											0													90	75	80					19																	35828752		2203	4300	6503	SO:0001819	synonymous_variant	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.813C>T	chr19.hg19:g.35828752C>T			F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	hg19	CCDS12457.1																																																																																				0.567	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		T	35828752	C	T	35828752	2	4	65	1	0	0	0	0	0	0	0	1	2987	506	18	2		2	CD22	19	35828752	Silent	SNP	C	TCGA-A4-7584-01A-11D-2136-08	21831883	35828752	23300231	64	4557											
EXOC3L2	90332	hgsc.bcm.edu	37	19	45720794	45720794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:45720794delG	ENST00000252482.3	-	7	838	c.811delC	c.(811-813)cggfs	p.R272fs	EXOC3L2_ENST00000413988.1_Frame_Shift_Del_p.R272fs			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	272					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		ACCAGCCGCCGGAACAGCCTC	0.701																																																0													9	12	11					19																	45720794		2147	4221	6368	SO:0001589	frameshift_variant	90332			AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.811delC	chr19.hg19:g.45720794delG	ENSP00000252482:p.Arg272fs		Q8N9W2|Q96GV2	Frame_Shift_Del	DEL	ENST00000252482.3	hg19	CCDS12657.1																																																																																				0.701	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		-	45720794	G	-	45720794	7	5	65	1	0	1	0	1	0	0	0	0	5307	1115	39	0	430	0	EXOC3L2	19	45720794	Frame_Shift_Del	DEL	G	TCGA-A4-7584-01A-11D-2136-08	9892042	45720794	13408189	65	4558											
SCAF1	58506	hgsc.bcm.edu	37	19	50161552	50161552	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:50161552A>C	ENST00000360565.3	+	11	3959	c.3835A>C	c.(3835-3837)Aag>Cag	p.K1279Q	IRF3_ENST00000599680.1_5'Flank	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1279	Necessary for interaction with the CTD domain of POLR2A.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTACTTCCGCAAGCACGGTCG	0.701																																																0													20	18	19					19																	50161552		2196	4296	6492	SO:0001583	missense	58506			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3835A>C	chr19.hg19:g.50161552A>C	ENSP00000353769:p.Lys1279Gln		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	hg19	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749503	0.69533	.	.	ENSG00000126461	ENST00000360565	T	0.50548	0.74	4.94	4.94	0.65067	.	0.000000	0.41001	D	0.000978	T	0.62575	0.2439	L	0.52905	1.665	0.45076	D	0.998095	D	0.76494	0.999	D	0.71656	0.974	T	0.65800	-0.6080	10	0.72032	D	0.01	-23.9463	13.702	0.62616	1.0:0.0:0.0:0.0	.	1279	Q9H7N4	SFR19_HUMAN	Q	1279	ENSP00000353769:K1279Q	ENSP00000353769:K1279Q	K	+	1	0	SCAF1	54853364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.499000	0.90494	2.064000	0.61679	0.533000	0.62120	AAG		0.701	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		C	50161552	A	C	50161552	3	2	65	1	0	0	0	0	1	0	0	0	13874	131	5	5	3873	5	SCAF1	19	50161552	Missense_Mutation	SNP	A	TCGA-A4-7584-01A-11D-2136-08	4440758	50161552	8967431	66	4559											
LILRB1	10859	hgsc.bcm.edu	37	19	55144006	55144006	+	Silent	SNP	C	C	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:55144006C>A	ENST00000396331.1	+	7	1110	c.753C>A	c.(751-753)ggC>ggA	p.G251G	LILRB1_ENST00000396317.1_Silent_p.G251G|LILRB1_ENST00000396321.2_Silent_p.G251G|LILRB1_ENST00000418536.2_Silent_p.G251G|LILRB1_ENST00000324602.7_Silent_p.G251G|LILRB1_ENST00000396327.3_Silent_p.G251G|LILRB1_ENST00000427581.2_Silent_p.G287G|LILRB1_ENST00000396315.1_Silent_p.G251G|LILRB1_ENST00000448689.1_Silent_p.G251G|LILRB1_ENST00000396332.4_Silent_p.G251G|LILRB1_ENST00000434867.2_Silent_p.G251G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	251	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTGATGCTGGCTACAACAGAT	0.572										HNSCC(37;0.09)																																						0													100	105	103					19																	55144006		2203	4300	6503	SO:0001819	synonymous_variant	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.753C>A	chr19.hg19:g.55144006C>A			A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	hg19	CCDS42617.1																																																																																				0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			A	55144006	C	A	55144006	2	1	65	1	0	0	0	0	0	0	0	1	8792	784	28	4		4	LILRB1	19	55144006	Silent	SNP	C	TCGA-A4-7584-01A-11D-2136-08	4982454	55144006	3984977	67	4560											
ZNF543	125919	hgsc.bcm.edu	37	19	57839968	57839968	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr19:57839968G>A	ENST00000321545.4	+	4	1483	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGCGAGAGTGCAGACCTCAT	0.512																																																0													84	73	76					19																	57839968		2203	4300	6503	SO:0001583	missense	125919			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1138G>A	chr19.hg19:g.57839968G>A	ENSP00000322545:p.Ala380Thr		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	hg19	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	2.550	-0.304214	0.05495	.	.	ENSG00000178229	ENST00000321545	T	0.15139	2.45	3.14	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10337	0.0253	N	0.25825	0.765	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.32188	-0.9916	9	0.42905	T	0.14	.	7.5755	0.27933	0.138:0.0:0.7015:0.1605	.	380	Q08ER8	ZN543_HUMAN	T	380	ENSP00000322545:A380T	ENSP00000322545:A380T	A	+	1	0	ZNF543	62531780	0.000000	0.05858	0.000000	0.03702	0.661000	0.39034	-1.477000	0.02331	-0.214000	0.10078	0.561000	0.74099	GCA		0.512	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		A	57839968	G	A	57839968	3	1	65	1	0	0	0	0	1	0	0	0	17981	1319	46	2	1152	2	ZNF543	19	57839968	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08	2695962	57839968	1289015	68	4561											
ZNF335	63925	hgsc.bcm.edu	37	20	44578919	44578919	+	Silent	SNP	G	G	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr20:44578919G>C	ENST00000322927.2	-	22	3526	c.3426C>G	c.(3424-3426)acC>acG	p.T1142T	ZNF335_ENST00000426788.1_Silent_p.T987T	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1142					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TTGGGGTCTGGGTAGGGGCCC	0.612																																																0													90	93	92					20																	44578919		2203	4300	6503	SO:0001819	synonymous_variant	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3426C>G	chr20.hg19:g.44578919G>C			B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	hg19	CCDS13389.1																																																																																				0.612	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		C	44578919	G	C	44578919	2	2	65	1	0	0	0	0	0	0	0	1	17857	1219	43	4		4	ZNF335	20	44578919	Silent	SNP	G	TCGA-A4-7584-01A-11D-2136-08		44578919	18446601	69	4562											
PARD6B	84612	hgsc.bcm.edu	37	20	49366295	49366295	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr20:49366295A>G	ENST00000371610.2	+	3	632	c.389A>G	c.(388-390)cAt>cGt	p.H130R	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	130	Interaction with PARD3 and CDC42. {ECO:0000250}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.H130R(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AAAAAGCCACATATAGTCATT	0.403																																																1	Substitution - Missense(1)	kidney(1)											76	74	75					20																	49366295		2203	4300	6503	SO:0001583	missense	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.389A>G	chr20.hg19:g.49366295A>G	ENSP00000360672:p.His130Arg		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	hg19	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597328	0.28445	.	.	ENSG00000124171	ENST00000371610	T	0.41400	1.0	5.6	5.6	0.85130	.	0.151580	0.64402	D	0.000014	T	0.36991	0.0987	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.11421	-1.0588	10	0.25106	T	0.35	-32.4385	15.7847	0.78294	1.0:0.0:0.0:0.0	.	130	Q9BYG5	PAR6B_HUMAN	R	130	ENSP00000360672:H130R	ENSP00000360672:H130R	H	+	2	0	PARD6B	48799702	0.992000	0.36948	0.650000	0.29550	0.857000	0.48899	3.467000	0.53078	2.135000	0.66039	0.533000	0.62120	CAT		0.403	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		G	49366295	A	G	49366295	3	3	65	1	0	0	0	0	1	0	0	0	11448	217	8	3	399	3	PARD6B	20	49366295	Missense_Mutation	SNP	A	TCGA-A4-7584-01A-11D-2136-08	4787376	49366295	13659225	70	4563											
GAL3ST1	9514	hgsc.bcm.edu	37	22	30951203	30951203	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr22:30951203C>G	ENST00000402321.1	-	3	1326	c.1009G>C	c.(1009-1011)Gcc>Ccc	p.A337P	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.A337P|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.A337P|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.A337P|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.A337P|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.A337P|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.A337P			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	337					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGCTCGTTGGCATGGCGCAGG	0.721																																																0													20	22	21					22																	30951203		2199	4288	6487	SO:0001583	missense	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1009G>C	chr22.hg19:g.30951203C>G	ENSP00000385735:p.Ala337Pro		Q96C63	Missense_Mutation	SNP	ENST00000402321.1	hg19	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017684	0.75161	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.55	5.55	0.83447	.	0.225320	0.47455	D	0.000227	T	0.24547	0.0595	L	0.55990	1.75	0.80722	D	1	P	0.43938	0.822	P	0.48425	0.577	T	0.00557	-1.1672	10	0.30854	T	0.27	-13.5376	12.4548	0.55697	0.0:0.9221:0.0:0.0779	.	337	Q99999	G3ST1_HUMAN	P	337	ENSP00000385825:A337P;ENSP00000385735:A337P;ENSP00000384122:A337P;ENSP00000384388:A337P;ENSP00000343234:A337P;ENSP00000385207:A337P;ENSP00000402587:A337P	ENSP00000343234:A337P	A	-	1	0	GAL3ST1	29281203	0.970000	0.33590	0.958000	0.39756	0.894000	0.52154	2.095000	0.41729	2.615000	0.88500	0.561000	0.74099	GCC		0.721	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		G	30951203	C	G	30951203	3	3	65	1	0	0	0	0	1	0	0	0	6199	710	25	4	266	4	GAL3ST1	22	30951203	Missense_Mutation	SNP	C	TCGA-A4-7584-01A-11D-2136-08		30951203	20353363	71	4564											
CARD10	29775	hgsc.bcm.edu	37	22	37914027	37914027	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chr22:37914027G>C	ENST00000403299.1	-	3	540	c.324C>G	c.(322-324)ttC>ttG	p.F108L	CARD10_ENST00000251973.5_Missense_Mutation_p.F108L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	108	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TGAGCAGCGTGAAGTGTTCGG	0.622																																																0													94	80	85					22																	37914027		2203	4300	6503	SO:0001583	missense	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.324C>G	chr22.hg19:g.37914027G>C	ENSP00000384570:p.Phe108Leu		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	hg19	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694688	0.88830	.	.	ENSG00000100065	ENST00000403299;ENST00000251973	T;T	0.20069	2.1;2.1	4.67	3.64	0.41730	DEATH-like (2);Caspase Recruitment (2);	0.151059	0.46442	D	0.000290	T	0.20007	0.0481	L	0.47716	1.5	0.46774	D	0.99919	P	0.40000	0.698	B	0.38683	0.279	T	0.02713	-1.1120	10	0.66056	D	0.02	-23.0196	11.2943	0.49269	0.0863:0.0:0.9137:0.0	.	108	Q9BWT7	CAR10_HUMAN	L	108	ENSP00000384570:F108L;ENSP00000251973:F108L	ENSP00000251973:F108L	F	-	3	2	CARD10	36243973	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.159000	0.58157	1.061000	0.40601	0.462000	0.41574	TTC		0.622	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		C	37914027	G	C	37914027	3	2	65	1	0	0	0	0	1	0	0	0	2646	1281	45	4	2850	4	CARD10	22	37914027	Missense_Mutation	SNP	G	TCGA-A4-7584-01A-11D-2136-08	6962824	37914027	13390539	72	4565											
KDM6A	7403	hgsc.bcm.edu	37	X	44870257	44870257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7584-01A-11D-2136-08	TCGA-A4-7584-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a4f7bf60-293b-44c8-a121-1d8b2c590f78	969e0233-3df2-44b1-a37c-f056f8c5ba97	g.chrX:44870257delT	ENST00000377967.4	+	5	477	c.436delT	c.(436-438)tttfs	p.F146fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.F146fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.F146fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.F146fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	146	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTATAATGCATTTCAGTGGTA	0.323			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	19	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)											117	99	105					X																	44870257		2203	4297	6500	SO:0001589	frameshift_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.436delT	chrX.hg19:g.44870257delT	ENSP00000367203:p.Phe146fs		Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	hg19	CCDS14265.1																																																																																				0.323	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		-	44870257	T	-	44870257	7	5	65	1	0	1	0	1	0	0	0	0	8139	1493	52	0	454	0	KDM6A	23	44870257	Frame_Shift_Del	DEL	T	TCGA-A4-7584-01A-11D-2136-08		44870257	110400303	73	4566											
BAI2	576	hgsc.bcm.edu	37	1	32207416	32207416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:32207416C>A	ENST00000373658.3	-	9	1911	c.1570G>T	c.(1570-1572)Gag>Tag	p.E524*	BAI2_ENST00000398542.1_Nonsense_Mutation_p.E457*|BAI2_ENST00000398538.1_Nonsense_Mutation_p.E512*|BAI2_ENST00000527361.1_Nonsense_Mutation_p.E524*|BAI2_ENST00000257070.4_Nonsense_Mutation_p.E524*|BAI2_ENST00000440175.2_Nonsense_Mutation_p.E166*|BAI2_ENST00000373655.2_Nonsense_Mutation_p.E524*|BAI2_ENST00000398547.1_Nonsense_Mutation_p.E457*|BAI2_ENST00000398556.3_Nonsense_Mutation_p.E472*	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	524	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CACCTCTTCTCACTACAAGGC	0.652																																																0													95	100	98					1																	32207416		2203	4299	6502	SO:0001587	stop_gained	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1570G>T	chr1.hg19:g.32207416C>A	ENSP00000362762:p.Glu524*		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Nonsense_Mutation	SNP	ENST00000373658.3	hg19	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	36	5.737223	0.96865	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	.	.	.	4.95	4.95	0.65309	.	0.000000	0.39985	N	0.001213	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	17.3262	0.87248	0.0:1.0:0.0:0.0	.	.	.	.	X	472;457;524;524;457;524;524;166;512;462;503	.	ENSP00000257070:E524X	E	-	1	0	BAI2	31980003	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.765000	0.68834	2.457000	0.83068	0.561000	0.74099	GAG		0.652	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		A	32207416	C	A	32207416	4	1	66	1	0	0	0	0	0	1	0	0	1299	835	29	4	3287	4	BAI2	1	32207416	Nonsense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08		32207416	217043205	1	4567											
TOE1	114034	hgsc.bcm.edu	37	1	45808095	45808095	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:45808095C>G	ENST00000372090.5	+	6	1115	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000354383.6_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.L98V|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	178						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GACCCTATTCCTGGAGCTAAT	0.552																																																0													97	100	99					1																	45808095		2203	4300	6503	SO:0001583	missense	114034				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.532C>G	chr1.hg19:g.45808095C>G	ENSP00000361162:p.Leu178Val		B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	hg19	CCDS521.1	.	.	.	.	.	.	.	.	.	.	C	9.622	1.133977	0.21123	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.23552	1.9;1.9	5.79	4.88	0.63580	Ribonuclease H-like (1);	0.129811	0.53938	D	0.000050	T	0.24661	0.0598	L	0.36672	1.1	0.41103	D	0.985687	B;P;P	0.40398	0.164;0.716;0.716	B;B;B	0.42245	0.077;0.381;0.194	T	0.02358	-1.1171	10	0.27785	T	0.31	-8.8608	14.7036	0.69171	0.0:0.9309:0.0:0.0691	.	184;98;178	B4DP23;B4DEM6;Q96GM8	.;.;TOE1_HUMAN	V	178;98	ENSP00000361162:L178V;ENSP00000438900:L98V	ENSP00000361162:L178V	L	+	1	2	TOE1	45580682	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	2.049000	0.41288	1.455000	0.47813	0.655000	0.94253	CTG		0.552	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		G	45808095	C	G	45808095	3	3	66	1	0	0	0	0	1	0	0	0	16354	680	24	4	554	4	TOE1	1	45808095	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	13600679	45808095	203442526	2	4568											
LPHN2	23266	hgsc.bcm.edu	37	1	82456455	82456455	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:82456455C>G	ENST00000370728.1	+	25	4651	c.4006C>G	c.(4006-4008)Ctg>Gtg	p.L1336V	LPHN2_ENST00000370717.2_Missense_Mutation_p.L1351V|LPHN2_ENST00000370725.1_Missense_Mutation_p.L1351V|LPHN2_ENST00000394879.1_Missense_Mutation_p.L1338V|LPHN2_ENST00000370721.1_Missense_Mutation_p.L1261V|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.L1338V|LPHN2_ENST00000319517.6_Missense_Mutation_p.L1280V|LPHN2_ENST00000370730.1_Missense_Mutation_p.L1293V|LPHN2_ENST00000271029.4_Missense_Mutation_p.L1308V|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.L1280V|LPHN2_ENST00000370727.1_Missense_Mutation_p.L1308V|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.L1293V			O95490	LPHN2_HUMAN	latrophilin 2	1336					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCACTCCCTTCTGTACCAACC	0.527																																																0													84	87	86					1																	82456455		2203	4300	6503	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4006C>G	chr1.hg19:g.82456455C>G	ENSP00000359763:p.Leu1336Val		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	hg19		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.57|13.57|13.57	2.275917|2.275917|2.275917	0.40294|0.40294|0.40294	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	.|T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.72835|.	.|-0.52;-0.53;-0.69;-0.63;-0.47;-0.43;-0.63;-0.63;-0.47;-0.43;-0.63;-0.69|.	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000011|.	T|T|T	0.68375|0.68375|0.68375	0.2994|0.2994|0.2994	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;D|.	.|0.69078|.	.|0.663;0.997|.	.|B;D|.	.|0.76071|.	.|0.395;0.987|.	T|T|T	0.64841|0.64841|0.64841	-0.6312|-0.6312|-0.6312	5|10|5	.|0.59425|.	.|D|.	.|0.04|.	.|.|.	19.773|19.773|19.773	0.96379|0.96379|0.96379	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|1280;260|.	.|O95490-2;B3KVU1|.	.|.;.|.	L|V|C	1227|1261;1336;1293;1308;1351;1338;1280;1280;1351;1338;1308;1293|347	.|ENSP00000359756:L1261V;ENSP00000359763:L1336V;ENSP00000359765:L1293V;ENSP00000359762:L1308V;ENSP00000359760:L1351V;ENSP00000359758:L1338V;ENSP00000353006:L1280V;ENSP00000322270:L1280V;ENSP00000359752:L1351V;ENSP00000378344:L1338V;ENSP00000271029:L1308V;ENSP00000337306:L1293V|.	.|ENSP00000271029:L1308V|.	F|L|S	+|+|+	3|1|2	2|2|0	LPHN2|LPHN2|LPHN2	82229043|82229043|82229043	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	5.773000|5.773000|5.773000	0.68898|0.68898|0.68898	2.677000|2.677000|2.677000	0.91161|0.91161|0.91161	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTG|TCT		0.527	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		G	82456455	C	G	82456455	3	3	66	1	0	0	0	0	1	0	0	0	8918	912	32	4	3912	4	LPHN2	1	82456455	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	36648360	82456455	166794166	3	4569											
C1orf51	148523	hgsc.bcm.edu	37	1	150259000	150259000	+	Silent	SNP	T	T	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:150259000T>A	ENST00000290363.5	+	5	1241	c.792T>A	c.(790-792)acT>acA	p.T264T	C1orf51_ENST00000369094.1_Silent_p.T176T|C1orf51_ENST00000369095.1_Silent_p.T264T	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		264					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCACACCACTCCAATTTGCA	0.522																																																0													243	190	208					1																	150259000		2203	4300	6503	SO:0001819	synonymous_variant	148523																														ENST00000290363.5:c.792T>A	chr1.hg19:g.150259000T>A			B2RD43|D3DV01|Q8N795|Q96MG6	Silent	SNP	ENST00000290363.5	hg19	CCDS949.1																																																																																				0.522	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			A	150259000	T	A	150259000	2	1	66	1	0	0	0	0	0	0	0	1	2045	1538	54	5		5	C1orf51	1	150259000	Silent	SNP	T	TCGA-A4-7585-01A-11D-2136-08	67802545	150259000	98991621	4	4570											
CRTC2	200186	hgsc.bcm.edu	37	1	153924520	153924520	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:153924520C>A	ENST00000368633.1	-	10	1098	c.971G>T	c.(970-972)gGc>gTc	p.G324V	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	324				MGL -> HGP (in Ref. 1; AAQ98857). {ECO:0000305}.	gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGGCCCAGGCCCATGCCCCT	0.607																																																0													58	57	57					1																	153924520		2203	4300	6503	SO:0001583	missense	200186			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.971G>T	chr1.hg19:g.153924520C>A	ENSP00000357622:p.Gly324Val		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	hg19	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	c	6.593	0.477845	0.12521	.	.	ENSG00000160741	ENST00000368633	T	0.12774	2.65	4.84	3.92	0.45320	.	0.625789	0.15810	N	0.243526	T	0.05502	0.0145	L	0.36672	1.1	0.48830	D	0.999715	B	0.23249	0.082	B	0.21708	0.036	T	0.09185	-1.0686	10	0.66056	D	0.02	-3.8662	11.1372	0.48381	0.0:0.813:0.187:0.0	.	324	Q53ET0	CRTC2_HUMAN	V	324	ENSP00000357622:G324V	ENSP00000357622:G324V	G	-	2	0	CRTC2	152191144	0.420000	0.25457	0.997000	0.53966	0.095000	0.18619	0.767000	0.26575	1.028000	0.39785	0.450000	0.29827	GGC		0.607	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		A	153924520	C	A	153924520	3	1	66	1	0	0	0	0	1	0	0	0	3902	739	26	4	1130	4	CRTC2	1	153924520	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	3665520	153924520	95326101	5	4571											
FAM5C	339479	hgsc.bcm.edu	37	1	190067269	190067269	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:190067269A>T	ENST00000367462.3	-	8	2411	c.2180T>A	c.(2179-2181)tTg>tAg	p.L727*	BRINP3_ENST00000534846.1_Nonsense_Mutation_p.L625*	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	727					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											ATGACGAAGCAAGCAAGAGAA	0.463																																																0													115	111	112					1																	190067269		2203	4300	6503	SO:0001587	stop_gained	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2180T>A	chr1.hg19:g.190067269A>T	ENSP00000356432:p.Leu727*		B3KVP1|B7Z260|O95726|Q2M330	Nonsense_Mutation	SNP	ENST00000367462.3	hg19	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	37	6.250241	0.97412	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.72	4.6	0.57074	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7499	0.40470	0.9186:0.0:0.0814:0.0	.	.	.	.	X	727;625	.	ENSP00000356432:L727X	L	-	2	0	FAM5C	188333892	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.237000	0.95368	1.005000	0.39183	0.528000	0.53228	TTG		0.463	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		T	190067269	A	T	190067269	4	4	66	1	0	0	0	0	0	1	0	0	5596	131	5	5	124	5	FAM5C	1	190067269	Nonsense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08	36142749	190067269	59183352	6	4572											
TAF1B	9014	hgsc.bcm.edu	37	2	10016047	10016047	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:10016047G>C	ENST00000263663.5	+	7	795	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	TAF1B_ENST00000396242.3_Intron	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	203	N-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACAACGAAAGGAGAAGGGAAT	0.408																																																0													223	193	203					2																	10016047		2203	4300	6503	SO:0001583	missense	9014			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.607G>C	chr2.hg19:g.10016047G>C	ENSP00000263663:p.Glu203Gln		B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	hg19	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	G	9.995	1.231767	0.22626	.	.	ENSG00000115750	ENST00000263663	T	0.01902	4.57	5.82	4.0	0.46444	.	0.254066	0.44285	D	0.000476	T	0.02807	0.0084	L	0.41236	1.265	0.80722	D	1	B;P	0.52316	0.172;0.952	B;P	0.46659	0.025;0.523	T	0.60419	-0.7267	9	.	.	.	-14.0229	5.6394	0.17554	0.1472:0.178:0.6747:0.0	.	203;203	Q53T94;Q53T94-2	TAF1B_HUMAN;.	Q	203	ENSP00000263663:E203Q	.	E	+	1	0	TAF1B	9933498	1.000000	0.71417	0.994000	0.49952	0.941000	0.58515	1.150000	0.31639	1.442000	0.47568	0.655000	0.94253	GAG		0.408	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		C	10016047	G	C	10016047	3	2	66	1	0	0	0	0	1	0	0	0	15525	1175	41	4	633	4	TAF1B	2	10016047	Missense_Mutation	SNP	G	TCGA-A4-7585-01A-11D-2136-08		10016047	233183326	7	4573											
CAD	790	hgsc.bcm.edu	37	2	27460276	27460276	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:27460276G>A	ENST00000403525.1	+	27	4381	c.4237G>A	c.(4237-4239)Gaa>Aaa	p.E1413K	CAD_ENST00000264705.4_Missense_Mutation_p.E1476K			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCTGCGGGAACCAGGTGG	0.552																																																0													87	84	85					2																	27460276		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4237G>A	chr2.hg19:g.27460276G>A	ENSP00000384510:p.Glu1413Lys		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	hg19		.	.	.	.	.	.	.	.	.	.	G	28.5	4.927886	0.92389	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	T;T	0.46063	0.88;0.88	4.91	4.01	0.46588	Dihydroorotase, conserved site (1);Amidohydrolase 1 (1);	0.167071	0.52532	D	0.000062	T	0.73249	0.3563	H	0.98111	4.15	0.80722	D	1	P;D	0.65815	0.941;0.995	P;P	0.62885	0.66;0.908	T	0.80306	-0.1438	10	0.33141	T	0.24	-0.4186	13.2019	0.59774	0.0:0.0:0.8392:0.1608	.	1413;1476	F8VPD4;P27708	.;PYR1_HUMAN	K	1476;1413	ENSP00000264705:E1476K;ENSP00000384510:E1413K	ENSP00000264705:E1476K	E	+	1	0	CAD	27313780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.360000	0.97119	1.030000	0.39839	0.561000	0.74099	GAA		0.552	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			A	27460276	G	A	27460276	3	1	66	1	0	0	0	0	1	0	0	0	2567	1175	41	2	4536	2	CAD	2	27460276	Missense_Mutation	SNP	G	TCGA-A4-7585-01A-11D-2136-08	17444229	27460276	215739097	8	4574											
TSGA10	80705	hgsc.bcm.edu	37	2	99720473	99720473	+	Nonsense_Mutation	SNP	C	C	A	rs545440386	byFrequency	TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:99720473C>A	ENST00000393483.3	-	10	1412	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	TSGA10_ENST00000410001.1_Nonsense_Mutation_p.E190*|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.E190*|TSGA10_ENST00000542655.1_Nonsense_Mutation_p.E190*|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.E190*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	190					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGTTCACTTTCGGTATCCATT	0.348																																																0													240	212	222					2																	99720473		2202	4299	6501	SO:0001587	stop_gained	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.568G>T	chr2.hg19:g.99720473C>A	ENSP00000377123:p.Glu190*		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Nonsense_Mutation	SNP	ENST00000393483.3	hg19	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	42	9.602630	0.99217	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	.	.	.	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-16.4617	16.7002	0.85348	0.0:1.0:0.0:0.0	.	.	.	.	X	190	.	ENSP00000347161:E190X	E	-	1	0	TSGA10	99086905	0.986000	0.35501	0.969000	0.41365	0.988000	0.76386	2.774000	0.47694	2.801000	0.96364	0.650000	0.86243	GAA		0.348	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		A	99720473	C	A	99720473	4	1	66	1	0	0	0	0	0	1	0	0	16622	893	31	4	1576	4	TSGA10	2	99720473	Nonsense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	72260197	99720473	143478900	9	4575											
LCT	3938	hgsc.bcm.edu	37	2	136566494	136566494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:136566494delT	ENST00000264162.2	-	8	3433	c.3423delA	c.(3421-3423)gaafs	p.E1141fs	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1141	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGTCAGCGGCTTCCACATCTC	0.552																																																0													71	75	74					2																	136566494		2203	4300	6503	SO:0001589	frameshift_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3423delA	chr2.hg19:g.136566494delT	ENSP00000264162:p.Glu1141fs		Q4ZG58	Frame_Shift_Del	DEL	ENST00000264162.2	hg19	CCDS2178.1																																																																																				0.552	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		-	136566494	T	-	136566494	7	5	66	1	0	1	0	1	0	0	0	0	8695	1606	56	0	2400	0	LCT	2	136566494	Frame_Shift_Del	DEL	T	TCGA-A4-7585-01A-11D-2136-08	36846021	136566494	106632879	10	4576											
DARS	1615	hgsc.bcm.edu	37	2	136736937	136736937	+	Splice_Site	SNP	C	C	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:136736937C>A	ENST00000264161.4	-	3	340		c.e3-1		DARS_ENST00000463008.1_Splice_Site|DARS_ENST00000537273.1_Splice_Site	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase						aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	AAAACTCGATCTGTAATAACA	0.318																																																0													105	108	107					2																	136736937		2203	4300	6503	SO:0001630	splice_region_variant	1615			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.125-1G>T	chr2.hg19:g.136736937C>A			A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Splice_Site	SNP	ENST00000264161.4	hg19	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.558088	0.27827	.	.	ENSG00000115866	ENST00000264161;ENST00000441323;ENST00000456565;ENST00000449218	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3312	0.83015	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DARS	136453407	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	5.328000	0.65887	2.655000	0.90218	0.462000	0.41574	.		0.318	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349	Intron	A	136736937	C	A	136736937	5	1	66	1	0	0	0	0	0	0	1	0	4243	927	32	4	1437	4	DARS	2	136736937	Splice_Site	SNP	C	TCGA-A4-7585-01A-11D-2136-08	170443	136736937	106462436	11	4577											
KIF5C	3800	hgsc.bcm.edu	37	2	149835496	149835496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:149835496C>T	ENST00000435030.1	+	13	1722	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Nonsense_Mutation_p.Q357*|KIF5C_ENST00000397413.1_Nonsense_Mutation_p.Q220*			O60282	KIF5C_HUMAN	kinesin family member 5C	452					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GATGTTGGATCAGGATGAGGT	0.353																																																0													78	78	78					2																	149835496		1852	4105	5957	SO:0001587	stop_gained	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1354C>T	chr2.hg19:g.149835496C>T	ENSP00000393379:p.Gln452*		O95079|Q2YDC5	Nonsense_Mutation	SNP	ENST00000435030.1	hg19		.	.	.	.	.	.	.	.	.	.	C	39	7.391751	0.98255	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	.	.	.	X	452;357;355;220	.	ENSP00000334176:Q355X	Q	+	1	0	KIF5C	149543742	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.627000	0.83176	2.941000	0.99782	0.655000	0.94253	CAG		0.353	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		T	149835496	C	T	149835496	4	4	66	1	0	0	0	0	0	1	0	0	8309	827	29	2	1326	2	KIF5C	2	149835496	Nonsense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	13098559	149835496	93363877	12	4578											
USP37	57695	hgsc.bcm.edu	37	2	219328058	219328058	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:219328058A>G	ENST00000258399.3	-	22	2910	c.2498T>C	c.(2497-2499)cTc>cCc	p.L833P	USP37_ENST00000418019.1_Missense_Mutation_p.L833P|USP37_ENST00000415516.1_Missense_Mutation_p.L739P|USP37_ENST00000454775.1_Missense_Mutation_p.L833P	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	833	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AGCTCTTTTGAGGTCATCATC	0.318																																																0													107	106	106					2																	219328058		2203	4300	6503	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2498T>C	chr2.hg19:g.219328058A>G	ENSP00000258399:p.Leu833Pro		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	hg19	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154173	0.57259	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.55588	0.55;0.55;0.51;0.55	4.77	4.77	0.60923	Ubiquitin interacting motif (3);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.127314	0.53938	D	0.000041	T	0.65678	0.2714	L	0.59436	1.845	0.80722	D	1	D;D	0.62365	0.989;0.991	P;P	0.61658	0.892;0.881	T	0.68401	-0.5418	10	0.56958	D	0.05	-2.9498	14.7551	0.69557	1.0:0.0:0.0:0.0	.	739;833	Q86T82-2;Q86T82	.;UBP37_HUMAN	P	833;833;739;833	ENSP00000258399:L833P;ENSP00000393662:L833P;ENSP00000400902:L739P;ENSP00000396585:L833P	ENSP00000258399:L833P	L	-	2	0	USP37	219036302	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.305000	0.89960	2.127000	0.65507	0.477000	0.44152	CTC		0.318	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		G	219328058	A	G	219328058	3	3	66	1	0	0	0	0	1	0	0	0	17073	304	11	3	461	3	USP37	2	219328058	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08	69492562	219328058	23871315	13	4579											
PTPRN	5798	hgsc.bcm.edu	37	2	220161767	220161767	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:220161767A>C	ENST00000295718.2	-	15	2416	c.2176T>G	c.(2176-2178)Tgt>Ggt	p.C726G	PTPRN_ENST00000423636.2_Missense_Mutation_p.C636G|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Missense_Mutation_p.C697G|MIR153-1_ENST00000384914.1_RNA|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	726	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCGGTGGCACAGGTGTTTGGC	0.637																																																0													95	99	98					2																	220161767		2203	4300	6503	SO:0001583	missense	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2176T>G	chr2.hg19:g.220161767A>C	ENSP00000295718:p.Cys726Gly		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	hg19	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.872163	0.33069	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.14516	2.5;2.5;2.5	4.31	4.31	0.51392	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.250911	0.35179	N	0.003398	T	0.24044	0.0582	M	0.67397	2.05	0.39123	D	0.961697	D;B	0.60160	0.987;0.081	P;B	0.51385	0.668;0.078	T	0.06409	-1.0828	10	0.33940	T	0.23	.	13.3146	0.60399	1.0:0.0:0.0:0.0	.	697;726	Q6NSL1;Q16849	.;PTPRN_HUMAN	G	697;726;697;636	ENSP00000386638:C697G;ENSP00000295718:C726G;ENSP00000444244:C636G	ENSP00000295718:C726G	C	-	1	0	PTPRN	219870011	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.355000	0.52262	1.806000	0.52798	0.379000	0.24179	TGT		0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			C	220161767	A	C	220161767	3	2	66	1	0	0	0	0	1	0	0	0	12813	188	7	5	799	5	PTPRN	2	220161767	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08	833709	220161767	23037606	14	4580											
COL6A3	1293	hgsc.bcm.edu	37	2	238275884	238275884	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:238275884T>C	ENST00000295550.4	-	11	5398	c.4946A>G	c.(4945-4947)aAc>aGc	p.N1649S	COL6A3_ENST00000346358.4_Missense_Mutation_p.N1449S|COL6A3_ENST00000347401.3_Missense_Mutation_p.N1448S|COL6A3_ENST00000353578.4_Missense_Mutation_p.N1443S|COL6A3_ENST00000472056.1_Missense_Mutation_p.N1042S|COL6A3_ENST00000409809.1_Missense_Mutation_p.N1443S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1649	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTCCTGAAGTTGATGGAACC	0.438																																																0													73	64	67					2																	238275884		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4946A>G	chr2.hg19:g.238275884T>C	ENSP00000295550:p.Asn1649Ser		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285417	0.40394	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000018	T	0.65217	0.2670	N	0.05031	-0.125	0.46654	D	0.999143	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.87578	0.998;0.998;0.953	T	0.62469	-0.6848	10	0.02654	T	1	.	15.5966	0.76587	0.0:0.0:0.0:1.0	.	1042;1443;1649	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	S	1649;1448;1443;1042;1443;1449	ENSP00000295550:N1649S;ENSP00000315609:N1448S;ENSP00000315873:N1443S;ENSP00000418285:N1042S;ENSP00000386844:N1443S;ENSP00000295546:N1449S	ENSP00000295550:N1649S	N	-	2	0	COL6A3	237940623	1.000000	0.71417	0.994000	0.49952	0.786000	0.44442	4.105000	0.57797	2.080000	0.62538	0.533000	0.62120	AAC		0.438	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238275884	T	C	238275884	3	2	66	1	0	0	0	0	1	0	0	0	3703	1725	60	3	4723	3	COL6A3	2	238275884	Missense_Mutation	SNP	T	TCGA-A4-7585-01A-11D-2136-08	18114117	238275884	4923489	15	4581											
SETD5	55209	hgsc.bcm.edu	37	3	9512542	9512542	+	Silent	SNP	T	T	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr3:9512542T>C	ENST00000406341.1	+	18	3314	c.3124T>C	c.(3124-3126)Ttg>Ctg	p.L1042L	SETD5_ENST00000302463.6_Silent_p.L944L|SETD5_ENST00000407969.1_Silent_p.L1061L|SETD5_ENST00000402466.1_Silent_p.L944L|SETD5_ENST00000402198.1_Silent_p.L1042L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1042										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TCGTGGATCCTTGTCACCTGG	0.478																																																0													24	23	23					3																	9512542		1861	4094	5955	SO:0001819	synonymous_variant	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3124T>C	chr3.hg19:g.9512542T>C			Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	hg19	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	T	8.531	0.871085	0.17322	.	.	ENSG00000168137	ENST00000399686;ENST00000421188	.	.	.	5.51	-0.229	0.13094	.	0.261170	0.47093	D	0.000242	T	0.54367	0.1854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45673	-0.9245	5	.	.	.	-3.3658	8.5026	0.33168	0.5133:0.3613:0.0:0.1253	.	.	.	.	P	709;372	.	.	L	+	2	0	SETD5	9487542	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	1.768000	0.38511	0.028000	0.15324	-0.649000	0.03915	CTT		0.478	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		C	9512542	T	C	9512542	2	2	66	1	0	0	0	0	0	0	0	1	14140	1606	56	3		3	SETD5	3	9512542	Silent	SNP	T	TCGA-A4-7585-01A-11D-2136-08		9512542	188509888	16	4582											
CAPN7	23473	hgsc.bcm.edu	37	3	15262464	15262464	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr3:15262464C>T	ENST00000253693.2	+	5	867	c.614C>T	c.(613-615)aCa>aTa	p.T205I		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	205					positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CAGAGATACACAGCAGAAGAA	0.363																																																0													59	59	59					3																	15262464		2203	4300	6503	SO:0001583	missense	23473			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.614C>T	chr3.hg19:g.15262464C>T	ENSP00000253693:p.Thr205Ile			Missense_Mutation	SNP	ENST00000253693.2	hg19	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640356	0.87859	.	.	ENSG00000131375	ENST00000253693	T	0.43294	0.95	5.79	4.92	0.64577	.	0.109635	0.64402	D	0.000008	T	0.59959	0.2232	M	0.81802	2.56	0.58432	D	0.999998	D	0.62365	0.991	P	0.56823	0.807	T	0.65092	-0.6252	10	0.54805	T	0.06	-9.0239	12.9819	0.58568	0.0:0.9247:0.0:0.0753	.	205	Q9Y6W3	CAN7_HUMAN	I	205	ENSP00000253693:T205I	ENSP00000253693:T205I	T	+	2	0	CAPN7	15237468	1.000000	0.71417	0.555000	0.28281	0.997000	0.91878	7.223000	0.78033	1.465000	0.48006	0.555000	0.69702	ACA		0.363	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		T	15262464	C	T	15262464	3	4	66	1	0	0	0	0	1	0	0	0	2633	478	17	2	632	2	CAPN7	3	15262464	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	5749922	15262464	182759966	17	4583											
EXOSC7	23016	hgsc.bcm.edu	37	3	45048921	45048921	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr3:45048921C>T	ENST00000265564.7	+	7	673	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	209					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GATTGGCTATCGGCATGTGGT	0.612																																																0													62	53	56					3																	45048921		2203	4300	6503	SO:0001583	missense	23016			BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.625C>T	chr3.hg19:g.45048921C>T	ENSP00000265564:p.Arg209Trp		Q96E72	Missense_Mutation	SNP	ENST00000265564.7	hg19	CCDS2725.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879280	0.72294	.	.	ENSG00000075914	ENST00000265564	T	0.44482	0.92	5.77	4.82	0.62117	Exoribonuclease, phosphorolytic domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66716	0.946;0.946	T	0.62525	-0.6836	10	0.38643	T	0.18	-14.1235	13.4903	0.61390	0.2342:0.7658:0.0:0.0	.	209;209	B2RDZ9;Q15024	.;EXOS7_HUMAN	W	209	ENSP00000265564:R209W	ENSP00000265564:R209W	R	+	1	2	EXOSC7	45023925	0.964000	0.33143	0.994000	0.49952	0.991000	0.79684	2.331000	0.43894	2.723000	0.93209	0.655000	0.94253	CGG		0.612	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004		T	45048921	C	T	45048921	3	4	66	1	0	0	0	0	1	0	0	0	5321	875	31	1	651	1	EXOSC7	3	45048921	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	29786457	45048921	152973509	18	4584											
TREX1	11277	hgsc.bcm.edu	37	3	48508760	48508760	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr3:48508760A>T	ENST00000422277.2	+	1	1532	c.871A>T	c.(871-873)Aca>Tca	p.T291S	SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000444177.1_Missense_Mutation_p.T226S|TREX1_ENST00000456089.1_Missense_Mutation_p.T97S|TREX1_ENST00000433541.1_Missense_Mutation_p.T97S|TREX1_ENST00000436480.2_Missense_Mutation_p.T236S|TREX1_ENST00000296443.9_Missense_Mutation_p.T236S	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	291	Necessary for endoplasmic reticulum localization. {ECO:0000250}.				cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTATGGGGTCACAGCCTCTGC	0.617																																																0			GRCh37	CI075712	TREX1	I							97	83	88					3																	48508760		2203	4300	6503	SO:0001583	missense	11277			AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"Aicardi-Goutieres syndrome 1"	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.871A>T	chr3.hg19:g.48508760A>T	ENSP00000390478:p.Thr291Ser		B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	hg19	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752702	0.69533	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	T;T;T;T;T;T	0.47528	1.49;0.84;1.49;1.44;1.49;0.84	5.1	-6.21	0.02065	.	.	.	.	.	T	0.32010	0.0815	L	0.54323	1.7	0.09310	N	1	B	0.24426	0.103	B	0.19391	0.025	T	0.34304	-0.9834	9	0.10902	T	0.67	.	6.7824	0.23654	0.2855:0.3313:0.3832:0.0	.	291	Q9NSU2	TREX1_HUMAN	S	236;97;236;291;226;97	ENSP00000296443:T236S;ENSP00000412404:T97S;ENSP00000392569:T236S;ENSP00000390478:T291S;ENSP00000415972:T226S;ENSP00000411331:T97S	ENSP00000296443:T236S	T	+	1	0	TREX1	48483764	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	-0.417000	0.07088	-1.057000	0.03201	0.459000	0.35465	ACA		0.617	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		T	48508760	A	T	48508760	3	4	66	1	0	0	0	0	1	0	0	0	16481	159	6	5	873	5	TREX1	3	48508760	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08	3459839	48508760	149513670	19	4585											
VPS8	23355	hgsc.bcm.edu	37	3	184700420	184700420	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr3:184700420C>T	ENST00000437079.3	+	41	3658	c.3487C>T	c.(3487-3489)Cat>Tat	p.H1163Y	VPS8_ENST00000436792.2_Missense_Mutation_p.H1161Y|VPS8_ENST00000446204.2_Missense_Mutation_p.H1071Y|VPS8_ENST00000287546.4_Missense_Mutation_p.H1163Y	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1163							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGCCATTCCTCATCTACACTC	0.393																																																0													81	71	75					3																	184700420		1894	4126	6020	SO:0001583	missense	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3487C>T	chr3.hg19:g.184700420C>T	ENSP00000397879:p.His1163Tyr		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	hg19	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	0.295	-0.977536	0.02197	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	6.05	6.05	0.98169	.	0.769709	0.13007	N	0.421217	T	0.17789	0.0427	L	0.38175	1.15	0.24222	N	0.995432	B;B;B	0.13145	0.0;0.007;0.0	B;B;B	0.19391	0.0;0.025;0.001	T	0.09684	-1.0663	10	0.62326	D	0.03	-11.998	13.6828	0.62496	0.0:0.8456:0.1544:0.0	.	1163;1071;1161	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	Y	1163;1163;1161;1071	ENSP00000287546:H1163Y;ENSP00000397879:H1163Y;ENSP00000404704:H1161Y;ENSP00000405483:H1071Y	ENSP00000287546:H1163Y	H	+	1	0	VPS8	186183114	0.126000	0.22350	0.812000	0.32479	0.520000	0.34377	1.477000	0.35431	2.878000	0.98634	0.650000	0.86243	CAT		0.393	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		T	184700420	C	T	184700420	3	4	66	1	0	0	0	0	1	0	0	0	17223	826	29	2	3641	2	VPS8	3	184700420	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	136191660	184700420	13322010	20	4586											
ABCG2	9429	hgsc.bcm.edu	37	4	89042889	89042889	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr4:89042889A>C	ENST00000237612.3	-	6	1132	c.587T>G	c.(586-588)aTa>aGa	p.I196R	ABCG2_ENST00000515655.1_Missense_Mutation_p.I196R	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	196	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CTCCATTCCTATACTAGTCCT	0.398																																																0													154	147	149					4																	89042889		2203	4300	6503	SO:0001583	missense	9429			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.587T>G	chr4.hg19:g.89042889A>C	ENSP00000237612:p.Ile196Arg		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	hg19	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.478150	0.84747	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	D;D	0.96168	-3.93;-3.93	5.55	5.55	0.83447	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	H	0.97240	3.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.99755	1.1019	10	0.87932	D	0	-42.7755	15.3809	0.74654	1.0:0.0:0.0:0.0	.	196;196;196	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	R	196	ENSP00000426917:I196R;ENSP00000237612:I196R	ENSP00000237612:I196R	I	-	2	0	ABCG2	89261913	1.000000	0.71417	0.984000	0.44739	0.893000	0.52053	8.948000	0.93006	2.117000	0.64856	0.533000	0.62120	ATA		0.398	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		C	89042889	A	C	89042889	3	2	66	1	0	0	0	0	1	0	0	0	69	449	16	5	1424	5	ABCG2	4	89042889	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08		89042889	102111387	21	4587											
KIAA1109	84162	hgsc.bcm.edu	37	4	123156097	123156097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr4:123156097G>T	ENST00000264501.4	+	27	3866	c.3493G>T	c.(3493-3495)Gag>Tag	p.E1165*	KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.E1165*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.E1165*|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1165					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CACAAGTGCAGAGTCTGATAT	0.393																																																0													109	106	107					4																	123156097		1863	4108	5971	SO:0001587	stop_gained	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3493G>T	chr4.hg19:g.123156097G>T	ENSP00000264501:p.Glu1165*		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.713265|7.713265	0.98447|0.98447	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.138537|.	0.28067|.	U|.	0.016735|.	.|T	.|0.74612	.|0.3739	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73956	.|-0.3819	.|3	0.14656|.	T|.	0.56|.	.|.	18.61|18.61	0.91281|0.91281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1165|996	.|.	ENSP00000264501:E1165X|.	E|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123375547|123375547	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.981000|0.981000	0.71138|0.71138	9.147000|9.147000	0.94646|0.94646	2.391000|2.391000	0.81399|0.81399	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123156097	G	T	123156097	4	4	66	1	0	0	0	0	0	1	0	0	8210	943	33	4	3591	4	KIAA1109	4	123156097	Nonsense_Mutation	SNP	G	TCGA-A4-7585-01A-11D-2136-08	34113208	123156097	67998179	22	4588											
PCDH18	54510	hgsc.bcm.edu	37	4	138452043	138452043	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr4:138452043delA	ENST00000344876.4	-	1	1586	c.1200delT	c.(1198-1200)catfs	p.H400fs	PCDH18_ENST00000507846.1_Frame_Shift_Del_p.H180fs|PCDH18_ENST00000412923.2_Frame_Shift_Del_p.H400fs|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	400	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GACCATGTCCATGAAGCTTAC	0.348																																																0													100	106	104					4																	138452043		2203	4300	6503	SO:0001589	frameshift_variant	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1200delT	chr4.hg19:g.138452043delA	ENSP00000355082:p.His400fs		A8K7K3|B7ZKT1|Q52LS2	Frame_Shift_Del	DEL	ENST00000344876.4	hg19	CCDS34064.1																																																																																				0.348	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		-	138452043	A	-	138452043	7	5	66	1	0	1	0	1	0	0	0	0	11515	214	8	0	2223	0	PCDH18	4	138452043	Frame_Shift_Del	DEL	A	TCGA-A4-7585-01A-11D-2136-08	15295946	138452043	52702233	23	4589											
FASTKD3	79072	hgsc.bcm.edu	37	5	7867621	7867621	+	Silent	SNP	A	A	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:7867621A>G	ENST00000264669.5	-	2	712	c.576T>C	c.(574-576)ccT>ccC	p.P192P	MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	192					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTACTTTGAGGATCCACAT	0.443																																																0													90	90	90					5																	7867621		2203	4300	6503	SO:0001819	synonymous_variant	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.576T>C	chr5.hg19:g.7867621A>G			Q9BVD3	Silent	SNP	ENST00000264669.5	hg19	CCDS3873.1																																																																																				0.443	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		G	7867621	A	G	7867621	2	3	66	1	0	0	0	0	0	0	0	1	5689	291	11	3		3	FASTKD3	5	7867621	Silent	SNP	A	TCGA-A4-7585-01A-11D-2136-08		7867621	173047639	24	4590											
ADAMTS6	11174	hgsc.bcm.edu	37	5	64537954	64537954	+	IGR	SNP	T	T	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:64537954T>G								ADAMTS6 (43362 upstream) : ADAMTS6 (55080 downstream)																							TTTCCAGTTATAATACTTTCC	0.358																																																0													97	101	100					5																	64537954		2203	4300	6503	SO:0001628	intergenic_variant	11174																															chr5.hg19:g.64537954T>G				Missense_Mutation	SNP		hg19		.	.	.	.	.	.	.	.	.	.	T	16.74	3.205533	0.58234	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.06608	3.28;7.39	5.62	5.62	0.85841	.	0.054793	0.85682	D	0.000000	T	0.12305	0.0299	M	0.71871	2.18	0.80722	D	1	B;B	0.22346	0.068;0.008	B;B	0.24848	0.056;0.034	T	0.01349	-1.1378	10	0.72032	D	0.01	.	15.8202	0.78633	0.0:0.0:0.0:1.0	.	637;637	D6R9L6;Q9UKP5	.;ATS6_HUMAN	S	637;587;637	ENSP00000370443:Y637S;ENSP00000423551:Y637S	ENSP00000261306:Y587S	Y	-	2	0	ADAMTS6	64573710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.581000	0.82535	2.139000	0.66308	0.460000	0.39030	TAT	0	0.358									G	64537954	T	G	64537954	1	3	66	0	1	0	0	0	0	0	0	0	270	1406	49	5		5	ADAMTS6	5	64537954	IGR	SNP	T	TCGA-A4-7585-01A-11D-2136-08	56670333	64537954	116377306	25	4591											
SPATA9	83890	hgsc.bcm.edu	37	5	94994451	94994451	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:94994451C>G	ENST00000274432.8	-	5	782	c.641G>C	c.(640-642)aGg>aCg	p.R214T	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	214					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CGGCAATGACCTATAAGGTTT	0.403																																																0													102	98	99					5																	94994451		2203	4299	6502	SO:0001583	missense	83890			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.641G>C	chr5.hg19:g.94994451C>G	ENSP00000274432:p.Arg214Thr		A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	hg19	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491277	0.26774	.	.	ENSG00000145757	ENST00000274432	T	0.31510	1.49	5.37	5.37	0.77165	.	0.173364	0.39985	N	0.001210	T	0.31857	0.0810	L	0.27053	0.805	0.80722	D	1	P	0.51351	0.944	P	0.49999	0.628	T	0.02214	-1.1194	10	0.54805	T	0.06	-9.9082	14.4904	0.67647	0.0:1.0:0.0:0.0	.	214	Q9BWV2	SPAT9_HUMAN	T	214	ENSP00000274432:R214T	ENSP00000274432:R214T	R	-	2	0	SPATA9	95020207	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	2.187000	0.42602	2.808000	0.96608	0.650000	0.86243	AGG		0.403	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		G	94994451	C	G	94994451	3	3	66	1	0	0	0	0	1	0	0	0	15021	681	24	4	127	4	SPATA9	5	94994451	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	30456497	94994451	85920809	26	4592											
SEC24A	10802	hgsc.bcm.edu	37	5	133997149	133997160	+	In_Frame_Del	DEL	CTCACAAACAAA	CTCACAAACAAA	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	CTCACAAACAAA	CTCACAAACAAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:133997149_133997160delCTCACAAACAAA	ENST00000398844.2	+	2	726_737	c.438_449delCTCACAAACAAA	c.(436-450)gcctcacaaacaaac>gcc	p.SQTN147del	SEC24A_ENST00000322887.4_In_Frame_Del_p.SQTN147del	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	147	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCCACAGCCTCACAAACAAACCATTGTCCT	0.415																																																0																																										SO:0001651	inframe_deletion	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.438_449delCTCACAAACAAA	chr5.hg19:g.133997149_133997160delCTCACAAACAAA	ENSP00000381823:p.Ser147_Asn150del		A8MVW3|Q8WUV2|Q96GP7	In_Frame_Del	DEL	ENST00000398844.2	hg19	CCDS43363.1																																																																																				0.415	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			-	133997160	CTCACAAACAAA	-	133997149	7	5	66	1	0	1	0	1	0	0	0	0	14000	668	24	0	444	0	SEC24A	5	133997149	In_Frame_Del	DEL	CTCACAAACAAA	TCGA-A4-7585-01A-11D-2136-08	39002698	133997149	46918111	27	4593											
SLC36A2	153201	hgsc.bcm.edu	37	5	150701645	150701645	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:150701645A>T	ENST00000335244.4	-	9	1271	c.1142T>A	c.(1141-1143)cTg>cAg	p.L381Q	SLC36A2_ENST00000450886.1_Missense_Mutation_p.L105Q|SLC36A2_ENST00000521967.1_Missense_Mutation_p.L381Q	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	381					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GGACAGATCCAGAGGCAGTGC	0.542																																																0													138	127	131					5																	150701645		2203	4300	6503	SO:0001583	missense	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1142T>A	chr5.hg19:g.150701645A>T	ENSP00000334223:p.Leu381Gln		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	hg19	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366710	0.41902	.	.	ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967	T;T;T	0.11495	4.19;4.19;2.77	4.76	2.4	0.29515	.	0.920881	0.09207	N	0.833849	T	0.18383	0.0441	L	0.57536	1.79	0.31863	N	0.620713	P;B	0.45531	0.86;0.132	P;B	0.50314	0.637;0.158	T	0.16897	-1.0387	10	0.28530	T	0.3	-0.0361	8.697	0.34303	0.8453:0.0:0.1547:0.0	.	381;381	E5RJJ5;Q495M3	.;S36A2_HUMAN	Q	381;105;381	ENSP00000334223:L381Q;ENSP00000399479:L105Q;ENSP00000430535:L381Q	ENSP00000334223:L381Q	L	-	2	0	SLC36A2	150681838	0.997000	0.39634	0.549000	0.28204	0.633000	0.38033	4.784000	0.62411	0.426000	0.26116	0.460000	0.39030	CTG		0.542	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			T	150701645	A	T	150701645	3	4	66	1	0	0	0	0	1	0	0	0	14600	188	7	5	317	5	SLC36A2	5	150701645	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08	16704496	150701645	30213615	28	4594											
DOCK2	1794	hgsc.bcm.edu	37	5	169463529	169463529	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:169463529A>G	ENST00000256935.8	+	36	3715	c.3635A>G	c.(3634-3636)aAa>aGa	p.K1212R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.K273R|DOCK2_ENST00000520908.1_Missense_Mutation_p.K704R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1212	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATTTCTACAAAGATAACAAC	0.423																																																0													135	132	133					5																	169463529		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3635A>G	chr5.hg19:g.169463529A>G	ENSP00000256935:p.Lys1212Arg		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914002	0.72983	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.55930	0.49;0.49;0.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.69463	2.115	0.41312	D	0.987117	P;P	0.46859	0.885;0.468	B;B	0.41299	0.353;0.074	T	0.57510	-0.7799	10	0.38643	T	0.18	.	15.5299	0.75952	1.0:0.0:0.0:0.0	.	704;1212	E7ERW7;Q92608	.;DOCK2_HUMAN	R	1212;704;273	ENSP00000256935:K1212R;ENSP00000429283:K704R;ENSP00000438827:K273R	ENSP00000256935:K1212R	K	+	2	0	DOCK2	169396107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.358000	0.90090	2.147000	0.66899	0.533000	0.62120	AAA		0.423	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		G	169463529	A	G	169463529	3	3	66	1	0	0	0	0	1	0	0	0	4689	14	1	3	3777	3	DOCK2	5	169463529	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08	18761884	169463529	11451731	29	4595											
NSD1	64324	hgsc.bcm.edu	37	5	176696648	176696648	+	Silent	SNP	C	C	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:176696648C>T	ENST00000439151.2	+	16	5394	c.5349C>T	c.(5347-5349)aaC>aaT	p.N1783N	NSD1_ENST00000361032.4_Silent_p.N1680N|NSD1_ENST00000347982.4_Silent_p.N1514N|NSD1_ENST00000354179.4_Silent_p.N1514N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1783	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCCTTCCAACATTGATAAGA	0.488			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			GRCh37	CD052485	NSD1	D							107	101	103					5																	176696648		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5349C>T	chr5.hg19:g.176696648C>T			Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	hg19	CCDS4412.1																																																																																				0.488	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		T	176696648	C	T	176696648	2	4	66	1	0	0	0	0	0	0	0	1	10671	477	17	2		2	NSD1	5	176696648	Silent	SNP	C	TCGA-A4-7585-01A-11D-2136-08	7233119	176696648	4218612	30	4596											
CLPS	1208	hgsc.bcm.edu	37	6	35765001	35765001	+	Missense_Mutation	SNP	C	C	G	rs140966197	byFrequency	TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:35765001C>G	ENST00000259938.2	-	1	87	c.65G>C	c.(64-66)cGg>cCg	p.R22P		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	22					lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(2)|prostate(1)	5						AATGATCCCCCGGGGGCCAGG	0.587																																					Melanoma(167;2962 3494 37796)											0													84	81	82					6																	35765001		2203	4300	6503	SO:0001583	missense	1208				CCDS4811.1, CCDS75437.1, CCDS75438.1	6p21.31	2012-02-06			ENSG00000137392	ENSG00000137392			2085	protein-coding gene	gene with protein product		120105				2045105	Standard	NM_001832		Approved		uc003ole.2	P04118	OTTHUMG00000014578	ENST00000259938.2:c.65G>C	chr6.hg19:g.35765001C>G	ENSP00000259938:p.Arg22Pro		Q5T9G7|Q5U809	Missense_Mutation	SNP	ENST00000259938.2	hg19	CCDS4811.1	.	.	.	.	.	.	.	.	.	.	C	9.579	1.123120	0.20959	.	.	ENSG00000137392	ENST00000259938;ENST00000541088	T	0.36878	1.23	4.74	4.74	0.60224	Colipase, N-terminal (1);	0.240709	0.29486	N	0.012016	T	0.52468	0.1736	M	0.73962	2.25	0.42641	D	0.993411	D;B	0.89917	1.0;0.22	D;B	0.85130	0.997;0.117	T	0.56763	-0.7925	10	0.66056	D	0.02	-16.1424	14.5722	0.68218	0.0:1.0:0.0:0.0	.	22;22	G3V1M8;P04118	.;COL_HUMAN	P	22	ENSP00000259938:R22P	ENSP00000259938:R22P	R	-	2	0	CLPS	35872979	0.958000	0.32768	0.993000	0.49108	0.025000	0.11179	3.128000	0.50492	2.462000	0.83206	0.655000	0.94253	CGG		0.587	CLPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040312.1	NM_001832		G	35765001	C	G	35765001	3	3	66	1	0	0	0	0	1	0	0	0	3555	652	23	4	285	4	CLPS	6	35765001	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08		35765001	135350066	31	4597											
KIAA0240	23506	hgsc.bcm.edu	37	6	42796705	42796705	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:42796705C>G	ENST00000314073.5	+	6	810	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.Q212E			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	212								p.Q212*(1)									TGGTTCTGGTCAAATACAGTT	0.418																																																1	Substitution - Nonsense(1)	lung(1)											149	143	145					6																	42796705		2203	4300	6503	SO:0001583	missense	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.634C>G	chr6.hg19:g.42796705C>G	ENSP00000313933:p.Gln212Glu		A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	hg19	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510409	0.64522	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.35973	1.28;1.28	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000005	T	0.50599	0.1625	M	0.61703	1.905	0.58432	D	0.999998	P;D;D	0.61697	0.954;0.99;0.99	D;P;P	0.67900	0.954;0.848;0.848	T	0.36768	-0.9734	10	0.40728	T	0.16	-10.2526	19.7507	0.96267	0.0:1.0:0.0:0.0	.	212;212;212	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	E	212	ENSP00000313933:Q212E;ENSP00000377723:Q212E	ENSP00000313933:Q212E	Q	+	1	0	KIAA0240	42904683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.946000	0.75953	2.722000	0.93159	0.655000	0.94253	CAA		0.418	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		G	42796705	C	G	42796705	3	3	66	1	0	0	0	0	1	0	0	0	8166	827	29	4	648	4	KIAA0240	6	42796705	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	7031704	42796705	128318362	32	4598											
MRPL2	51069	hgsc.bcm.edu	37	6	43023646	43023646	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:43023646A>C	ENST00000388752.3	-	5	1044	c.620T>G	c.(619-621)aTc>aGc	p.I207S	MRPL2_ENST00000230413.5_Missense_Mutation_p.I207S|MRPL2_ENST00000489623.1_Intron|CUL7_ENST00000535468.1_5'Flank|CUL7_ENST00000265348.3_5'Flank	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	207					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TGCAGCTCGGATATATTGGGC	0.567																																																0													44	39	40					6																	43023646		2203	4300	6503	SO:0001583	missense	51069			AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"Mitochondrial ribosomal proteins / large subunits"	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.620T>G	chr6.hg19:g.43023646A>C	ENSP00000373404:p.Ile207Ser		B2RC56|Q8WUL1|Q96Q56|Q9Y311	Missense_Mutation	SNP	ENST00000388752.3	hg19	CCDS34454.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589723	0.86851	.	.	ENSG00000112651	ENST00000388752;ENST00000230413	T;T	0.44482	0.92;0.92	5.94	5.94	0.96194	Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);Ribosomal protein L2, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	L	0.49571	1.57	0.80722	D	1	D	0.63880	0.993	D	0.67382	0.951	T	0.37197	-0.9716	10	0.33141	T	0.24	-18.6054	14.9662	0.71196	1.0:0.0:0.0:0.0	.	207	Q5T653	RM02_HUMAN	S	207	ENSP00000373404:I207S;ENSP00000230413:I207S	ENSP00000230413:I207S	I	-	2	0	MRPL2	43131624	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.952000	0.93031	2.272000	0.75746	0.460000	0.39030	ATC		0.567	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			C	43023646	A	C	43023646	3	2	66	1	0	0	0	0	1	0	0	0	9787	333	12	5	309	5	MRPL2	6	43023646	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08	226941	43023646	128091421	33	4599											
SENP6	26054	hgsc.bcm.edu	37	6	76412443	76412443	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:76412443G>A	ENST00000447266.2	+	19	2849	c.2371G>A	c.(2371-2373)Gct>Act	p.A791T	SENP6_ENST00000370010.2_Missense_Mutation_p.A784T|SENP6_ENST00000370014.3_Missense_Mutation_p.A791T|SENP6_ENST00000541192.1_Intron	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	791	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CCATGAAAATGCTGTCATACA	0.383																																																0													59	55	56					6																	76412443		1832	4093	5925	SO:0001583	missense	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2371G>A	chr6.hg19:g.76412443G>A	ENSP00000402527:p.Ala791Thr		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	hg19	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545641	0.27652	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.12255	2.7;2.7;2.7	5.74	3.51	0.40186	.	0.723156	0.13837	N	0.359285	T	0.02494	0.0076	L	0.33485	1.01	0.24879	N	0.992236	B;B	0.06786	0.001;0.001	B;B	0.11329	0.004;0.006	T	0.41698	-0.9494	10	0.25751	T	0.34	-0.6313	0.5061	0.00588	0.197:0.1755:0.2906:0.3369	.	784;791	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	T	784;791;791	ENSP00000359027:A784T;ENSP00000359031:A791T;ENSP00000402527:A791T	ENSP00000359027:A784T	A	+	1	0	SENP6	76469163	0.954000	0.32549	0.998000	0.56505	0.939000	0.58152	0.671000	0.25172	1.214000	0.43395	0.579000	0.79373	GCT		0.383	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		A	76412443	G	A	76412443	3	1	66	1	0	0	0	0	1	0	0	0	14056	1319	46	2	2445	2	SENP6	6	76412443	Missense_Mutation	SNP	G	TCGA-A4-7585-01A-11D-2136-08	33388797	76412443	94702624	34	4600											
SHPRH	257218	hgsc.bcm.edu	37	6	146234630	146234630	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:146234630C>G	ENST00000367505.2	-	24	4574	c.4310G>C	c.(4309-4311)cGa>cCa	p.R1437P	SHPRH_ENST00000438092.2_Missense_Mutation_p.R1441P|SHPRH_ENST00000275233.7_Missense_Mutation_p.R1437P|SHPRH_ENST00000367503.3_Missense_Mutation_p.R1441P			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1437					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCCTAGCTGTCGAGCACAGAT	0.308																																																0													123	123	123					6																	146234630		1803	4069	5872	SO:0001583	missense	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4310G>C	chr6.hg19:g.146234630C>G	ENSP00000356475:p.Arg1437Pro		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	hg19	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415831	0.83449	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.52	4.65	0.58169	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.088147	0.47455	D	0.000232	D	0.88514	0.6457	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89205	0.3560	10	0.51188	T	0.08	-9.0526	14.3892	0.66965	0.0:0.9287:0.0:0.0713	.	1437;1441	Q149N8;Q149N8-4	SHPRH_HUMAN;.	P	1437;1441;1441;1437	ENSP00000356475:R1437P;ENSP00000356473:R1441P;ENSP00000412797:R1441P;ENSP00000275233:R1437P	ENSP00000275233:R1437P	R	-	2	0	SHPRH	146276323	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.749000	0.62155	1.469000	0.48083	0.591000	0.81541	CGA		0.308	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		G	146234630	C	G	146234630	3	3	66	1	0	0	0	0	1	0	0	0	14297	884	31	4	786	4	SHPRH	6	146234630	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	69822187	146234630	24880437	35	4601											
LPA	4018	hgsc.bcm.edu	37	6	161027563	161027563	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:161027563C>T	ENST00000316300.5	-	17	2775	c.2731G>A	c.(2731-2733)Gtc>Atc	p.V911I	LPA_ENST00000447678.1_Missense_Mutation_p.V911I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3419	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGAGGCGCGACGGCAGTCCCT	0.547																																																0													105	110	108					6																	161027563		2068	4257	6325	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2731G>A	chr6.hg19:g.161027563C>T	ENSP00000321334:p.Val911Ile		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	hg19	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	11.74	1.727367	0.30593	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62232	0.04;0.04	2.18	-2.62	0.06152	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.21267	0.0512	L	0.38838	1.175	0.09310	N	1	P	0.50943	0.94	P	0.48089	0.566	T	0.26985	-1.0087	9	0.02654	T	1	.	0.3677	0.00374	0.2413:0.3112:0.2389:0.2086	.	3419	P08519	APOA_HUMAN	I	911	ENSP00000321334:V911I;ENSP00000395608:V911I	ENSP00000321334:V911I	V	-	1	0	LPA	160947553	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-2.331000	0.01110	-0.260000	0.09418	0.184000	0.17185	GTC		0.547	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		T	161027563	C	T	161027563	3	4	66	1	0	0	0	0	1	0	0	0	8905	536	19	1	3483	1	LPA	6	161027563	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	14792933	161027563	10087504	36	4602											
KIAA0895	23366	hgsc.bcm.edu	37	7	36396613	36396613	+	Silent	SNP	G	G	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr7:36396613G>A	ENST00000297063.6	-	3	815	c.765C>T	c.(763-765)ttC>ttT	p.F255F	KIAA0895_ENST00000436884.1_Silent_p.F104F|KIAA0895_ENST00000440378.1_Silent_p.F204F|KIAA0895_ENST00000317020.6_Silent_p.F204F|KIAA0895_ENST00000338533.5_Silent_p.F242F|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000415803.2_Silent_p.F242F|KIAA0895_ENST00000480192.1_Intron	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	255										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGTCAGATTTGAAGAATCTCA	0.393																																																0													103	95	97					7																	36396613		1840	4095	5935	SO:0001819	synonymous_variant	23366			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.765C>T	chr7.hg19:g.36396613G>A			B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Silent	SNP	ENST00000297063.6	hg19	CCDS43570.1																																																																																				0.393	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		A	36396613	G	A	36396613	2	1	66	1	0	0	0	0	0	0	0	1	8199	1281	45	2		2	KIAA0895	7	36396613	Silent	SNP	G	TCGA-A4-7585-01A-11D-2136-08		36396613	122742050	37	4603											
URGCP	55665	hgsc.bcm.edu	37	7	43918082	43918082	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr7:43918082A>C	ENST00000453200.1	-	6	1473	c.980T>G	c.(979-981)aTt>aGt	p.I327S	URGCP_ENST00000443736.1_Missense_Mutation_p.I284S|URGCP_ENST00000447717.3_Missense_Mutation_p.I284S|URGCP_ENST00000223341.7_Missense_Mutation_p.I284S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Missense_Mutation_p.I284S|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Missense_Mutation_p.I318S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	327					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTGGGAAAATGTCCAAGTC	0.512																																																0													69	70	70					7																	43918082		1897	4129	6026	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.980T>G	chr7.hg19:g.43918082A>C	ENSP00000396918:p.Ile327Ser		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	hg19	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.526247	0.27299	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96	5.66	5.66	0.87406	.	0.567596	0.17461	N	0.173449	T	0.10981	0.0268	L	0.47716	1.5	0.09310	N	1	B;B	0.30973	0.302;0.302	B;B	0.29942	0.109;0.109	T	0.20207	-1.0282	10	0.49607	T	0.09	-6.1339	8.3974	0.32566	0.913:0.0:0.087:0.0	.	318;327	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	S	284;284;318;284;327;284	ENSP00000223341:I284S;ENSP00000336872:I284S;ENSP00000384955:I318S;ENSP00000392136:I284S;ENSP00000396918:I327S;ENSP00000402803:I284S	ENSP00000223341:I284S	I	-	2	0	URGCP	43884607	0.050000	0.20438	0.044000	0.18714	0.845000	0.48019	3.327000	0.52045	2.158000	0.67659	0.482000	0.46254	ATT		0.512	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		C	43918082	A	C	43918082	3	2	66	1	0	0	0	0	1	0	0	0	17031	101	4	5	1819	5	URGCP	7	43918082	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08	7521469	43918082	115220581	38	4604											
RELN	5649	hgsc.bcm.edu	37	7	103629656	103629656	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr7:103629656C>T	ENST00000428762.1	-	1	307	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	RELN_ENST00000424685.2_Missense_Mutation_p.G50R|RELN_ENST00000343529.5_Missense_Mutation_p.G50R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	50	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCCTGCTCCCCATCCCCTTCC	0.642																																					NSCLC(146;835 1944 15585 22231 52158)											0													52	53	53					7																	103629656		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.148G>A	chr7.hg19:g.103629656C>T	ENSP00000392423:p.Gly50Arg		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301758	0.81136	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21361	2.01;2.01;2.01	4.63	4.63	0.57726	Reeler domain (1);	0.000000	0.64402	U	0.000010	T	0.32645	0.0836	N	0.19112	0.55	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.75484	0.976;0.986	T	0.19095	-1.0316	10	0.52906	T	0.07	.	17.6802	0.88240	0.0:1.0:0.0:0.0	.	50;50	P78509-2;P78509	.;RELN_HUMAN	R	50	ENSP00000392423:G50R;ENSP00000345694:G50R;ENSP00000388446:G50R	ENSP00000345694:G50R	G	-	1	0	RELN	103416892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.718000	0.74713	2.386000	0.81285	0.563000	0.77884	GGG		0.642	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103629656	C	T	103629656	3	4	66	1	0	0	0	0	1	0	0	0	13226	594	21	2	10494	2	RELN	7	103629656	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	59711574	103629656	55509007	39	4605											
HAS2	3037	hgsc.bcm.edu	37	8	122641473	122641473	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr8:122641473A>T	ENST00000303924.4	-	2	645	c.108T>A	c.(106-108)ttT>ttA	p.F36L		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	36					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CCGTTTGGATAAACTGGTAGC	0.423																																																0													88	85	86					8																	122641473		2203	4300	6503	SO:0001583	missense	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.108T>A	chr8.hg19:g.122641473A>T	ENSP00000306991:p.Phe36Leu		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	hg19	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	A	8.872	0.949410	0.18356	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.37584	1.19	6.17	3.85	0.44370	.	0.042814	0.85682	D	0.000000	T	0.22166	0.0534	L	0.28192	0.835	0.53688	D	0.999978	B	0.09022	0.002	B	0.06405	0.002	T	0.05178	-1.0901	10	0.12430	T	0.62	-24.2374	9.8975	0.41327	0.809:0.0:0.191:0.0	.	36	Q92819	HAS2_HUMAN	L	36	ENSP00000306991:F36L	ENSP00000306991:F36L	F	-	3	2	HAS2	122710654	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.132000	0.31418	1.161000	0.42604	-0.250000	0.11733	TTT		0.423	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		T	122641473	A	T	122641473	3	4	66	1	0	0	0	0	1	0	0	0	6964	359	13	5	1562	5	HAS2	8	122641473	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08		122641473	23722549	40	4606											
COL5A1	1289	hgsc.bcm.edu	37	9	137734002	137734002	+	Splice_Site	SNP	G	G	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr9:137734002G>C	ENST00000371817.3	+	66	5784		c.e66-1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCTTCCCCAGACCAAGAAAG	0.547																																																0													89	81	83					9																	137734002		2203	4300	6503	SO:0001630	splice_region_variant	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5371-1G>C	chr9.hg19:g.137734002G>C			Q15094|Q5SUX4	Splice_Site	SNP	ENST00000371817.3	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985830	0.74589	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3629	0.87356	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL5A1	136873823	1.000000	0.71417	0.075000	0.20258	0.907000	0.53573	9.541000	0.98083	2.174000	0.68829	0.563000	0.77884	.		0.547	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Intron	C	137734002	G	C	137734002	5	2	66	1	0	0	0	0	0	0	1	0	3698	956	33	4	5632	4	COL5A1	9	137734002	Splice_Site	SNP	G	TCGA-A4-7585-01A-11D-2136-08		137734002	3479429	41	4607											
PPRC1	23082	hgsc.bcm.edu	37	10	103898442	103898442	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr10:103898442delA	ENST00000278070.2	+	3	448	c.409delA	c.(409-411)aatfs	p.N137fs	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Frame_Shift_Del_p.N137fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GATCTTGGACAATGCAGATTC	0.532																																																0													120	108	112					10																	103898442		2203	4300	6503	SO:0001589	frameshift_variant	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.409delA	chr10.hg19:g.103898442delA	ENSP00000278070:p.Asn137fs		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Del	DEL	ENST00000278070.2	hg19	CCDS7529.1																																																																																				0.532	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		-	103898442	A	-	103898442	7	5	66	1	0	1	0	1	0	0	0	0	12415	130	5	0	419	0	PPRC1	10	103898442	Frame_Shift_Del	DEL	A	TCGA-A4-7585-01A-11D-2136-08		103898442	31636305	42	4608											
HTRA1	5654	hgsc.bcm.edu	37	10	124273843	124273843	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr10:124273843A>T	ENST00000368984.3	+	9	1539	c.1411A>T	c.(1411-1413)Atc>Ttc	p.I471F		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	471					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AGATATCATGATCACAGTGAT	0.507																																																0													155	138	144					10																	124273843		2203	4300	6503	SO:0001583	missense	5654			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1411A>T	chr10.hg19:g.124273843A>T	ENSP00000357980:p.Ile471Phe		D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	hg19	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	A	1.382	-0.583027	0.03827	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	D;D	0.82893	-1.66;-1.66	5.48	1.75	0.24633	PDZ/DHR/GLGF (1);	0.119403	0.56097	D	0.000029	T	0.67636	0.2914	L	0.31371	0.925	0.51767	D	0.999938	B	0.06786	0.001	B	0.06405	0.002	T	0.51601	-0.8685	10	0.28530	T	0.3	-8.1432	3.9311	0.09285	0.4669:0.3415:0.0687:0.1228	.	471	Q92743	HTRA1_HUMAN	F	471;438;212	ENSP00000357980:I471F;ENSP00000412676:I212F	ENSP00000357980:I471F	I	+	1	0	HTRA1	124263833	0.991000	0.36638	0.304000	0.25085	0.093000	0.18481	0.396000	0.20867	0.043000	0.15746	-0.313000	0.08912	ATC		0.507	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		T	124273843	A	T	124273843	3	4	66	1	0	0	0	0	1	0	0	0	7455	333	12	5	1445	5	HTRA1	10	124273843	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08	20375401	124273843	11260904	43	4609											
TECTA	7007	hgsc.bcm.edu	37	11	120980039	120980039	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr11:120980039delA	ENST00000392793.1	+	4	589	c.318delA	c.(316-318)ggafs	p.G106fs	TECTA_ENST00000264037.2_Frame_Shift_Del_p.G106fs			O75443	TECTA_HUMAN	tectorin alpha	106	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGCACAATGGAATTCGAGGCG	0.498																																																0													105	97	100					11																	120980039		2203	4299	6502	SO:0001589	frameshift_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.318delA	chr11.hg19:g.120980039delA	ENSP00000376543:p.Gly106fs			Frame_Shift_Del	DEL	ENST00000392793.1	hg19	CCDS8434.1																																																																																				0.498	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		-	120980039	A	-	120980039	7	5	66	1	0	1	0	1	0	0	0	0	15752	233	9	0	328	0	TECTA	11	120980039	Frame_Shift_Del	DEL	A	TCGA-A4-7585-01A-11D-2136-08		120980039	14026477	44	4610											
CNTN1	1272	hgsc.bcm.edu	37	12	41327590	41327590	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr12:41327590A>C	ENST00000551295.2	+	9	1012	c.895A>C	c.(895-897)Aat>Cat	p.N299H	CNTN1_ENST00000347616.1_Missense_Mutation_p.N299H|CNTN1_ENST00000547702.1_Missense_Mutation_p.N299H|CNTN1_ENST00000547849.1_Missense_Mutation_p.N299H|CNTN1_ENST00000360099.3_Missense_Mutation_p.N299H|CNTN1_ENST00000348761.2_Missense_Mutation_p.N288H	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	299	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAAGATCTTCAATATTCAGCT	0.408																																																0													85	87	87					12																	41327590		2203	4299	6502	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.895A>C	chr12.hg19:g.41327590A>C	ENSP00000447006:p.Asn299His		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	hg19	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293171	0.80914	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.24	5.24	0.73138	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	L	0.56124	1.755	0.54753	D	0.999986	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.75484	0.986;0.968;0.981	T	0.54309	-0.8313	10	0.46703	T	0.11	.	15.4433	0.75204	1.0:0.0:0.0:0.0	.	299;288;299	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	H	299;299;299;299;299;288	ENSP00000448004:N299H;ENSP00000447006:N299H;ENSP00000448653:N299H;ENSP00000325660:N299H;ENSP00000353213:N299H;ENSP00000261160:N288H	ENSP00000325660:N299H	N	+	1	0	CNTN1	39613857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.730000	0.91510	2.130000	0.65690	0.528000	0.53228	AAT		0.408	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		C	41327590	A	C	41327590	3	2	66	1	0	0	0	0	1	0	0	0	3642	130	5	5	925	5	CNTN1	12	41327590	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08		41327590	92524305	45	4611											
KRT77	374454	hgsc.bcm.edu	37	12	53097170	53097170	+	Silent	SNP	G	G	T	rs375217197		TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr12:53097170G>T	ENST00000341809.3	-	1	77	c.49C>A	c.(49-51)Cgg>Agg	p.R17R	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	17	Head.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTATAAACCCGCCTGCTCATT	0.542																																																0													64	70	68					12																	53097170		2203	4300	6503	SO:0001819	synonymous_variant	374454			BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"-", "Intermediate filaments type II, keratins (basic)"	20411	protein-coding gene	gene with protein product		611158	"keratin 1B"	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.49C>A	chr12.hg19:g.53097170G>T			Q7RTS8	Silent	SNP	ENST00000341809.3	hg19	CCDS8837.1																																																																																				0.542	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		T	53097170	G	T	53097170	2	4	66	1	0	0	0	0	0	0	0	1	8492	1086	38	4		4	KRT77	12	53097170	Silent	SNP	G	TCGA-A4-7585-01A-11D-2136-08	11769580	53097170	80754725	46	4612											
GCN1L1	10985	hgsc.bcm.edu	37	12	120599294	120599294	+	Splice_Site	SNP	C	C	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr12:120599294C>T	ENST00000300648.6	-	22	2448	c.2436G>A	c.(2434-2436)gaG>gaA	p.E812E		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	812					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGTACTCACCTCCTTCAGCT	0.512																																																0													166	169	168					12																	120599294		2172	4262	6434	SO:0001630	splice_region_variant	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2436+1G>A	chr12.hg19:g.120599294C>T			A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	hg19	CCDS41847.1																																																																																				0.512	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		Silent	T	120599294	C	T	120599294	5	4	66	1	0	0	0	0	0	0	1	0	6301	695	24	2	5727	2	GCN1L1	12	120599294	Splice_Site	SNP	C	TCGA-A4-7585-01A-11D-2136-08	67502124	120599294	13252601	47	4613											
NFKBIA	4792	hgsc.bcm.edu	37	14	35871629	35871629	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr14:35871629A>T	ENST00000216797.5	-	5	978	c.877T>A	c.(877-879)Tca>Aca	p.S293T	NFKBIA_ENST00000557100.1_5'Flank|NFKBIA_ENST00000557389.1_Missense_Mutation_p.S203T|NFKBIA_ENST00000557140.1_Missense_Mutation_p.S250T	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	293					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	GTGAACTCTGACTCTGTGTCA	0.562																																																0													88	94	92					14																	35871629		2203	4300	6503	SO:0001583	missense	4792				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"Ankyrin repeat domain containing"	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.877T>A	chr14.hg19:g.35871629A>T	ENSP00000216797:p.Ser293Thr		B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	hg19	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759198	0.49468	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000557389	T;T;T	0.46063	0.88;0.89;1.06	5.9	4.73	0.59995	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.28400	0.0702	L	0.29908	0.895	0.34457	D	0.701352	B;B	0.32467	0.372;0.145	B;B	0.30316	0.114;0.034	T	0.36915	-0.9728	9	0.35671	T	0.21	0.4354	7.8624	0.29517	0.7845:0.1395:0.0759:0.0	.	250;293	G3V3I4;P25963	.;IKBA_HUMAN	T	293;250;203	ENSP00000216797:S293T;ENSP00000451257:S250T;ENSP00000450514:S203T	ENSP00000216797:S293T	S	-	1	0	NFKBIA	34941380	1.000000	0.71417	0.820000	0.32676	0.916000	0.54674	3.478000	0.53158	1.015000	0.39444	0.533000	0.62120	TCA		0.562	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		T	35871629	A	T	35871629	3	4	66	1	0	0	0	0	1	0	0	0	10379	275	10	5	84	5	NFKBIA	14	35871629	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08		35871629	71477911	48	4614											
SLC39A9	55334	hgsc.bcm.edu	37	14	69866098	69866098	+	Silent	SNP	C	C	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr14:69866098C>T	ENST00000336643.5	+	1	690	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ERH_ENST00000555373.1_5'Flank|SLC39A9_ENST00000031146.4_Silent_p.F4F|SLC39A9_ENST00000555245.1_Intron|ERH_ENST00000216520.6_5'Flank|SLC39A9_ENST00000556605.1_Silent_p.F4F|ERH_ENST00000557016.1_5'Flank|SLC39A9_ENST00000557046.1_Silent_p.F4F	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	4					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.F4F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TGGATGATTTCATCTCCATTA	0.438																																																1	Substitution - coding silent(1)	endometrium(1)											224	200	208					14																	69866098		2203	4300	6503	SO:0001819	synonymous_variant	55334				CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"Solute carriers"	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.12C>T	chr14.hg19:g.69866098C>T			G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Silent	SNP	ENST00000336643.5	hg19	CCDS9795.1																																																																																				0.438	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		T	69866098	C	T	69866098	2	4	66	1	0	0	0	0	0	0	0	1	14631	825	29	2		2	SLC39A9	14	69866098	Silent	SNP	C	TCGA-A4-7585-01A-11D-2136-08	33994469	69866098	37483442	49	4615											
SLC28A2	9153	hgsc.bcm.edu	37	15	45561728	45561728	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr15:45561728A>C	ENST00000347644.3	+	14	1626	c.1561A>C	c.(1561-1563)Att>Ctt	p.I521L	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	521					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	GAAACAGTGGATTTCTGTAAG	0.433																																					NSCLC(92;493 1501 26361 28917 47116)											0													96	90	92					15																	45561728		2198	4298	6496	SO:0001583	missense	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1561A>C	chr15.hg19:g.45561728A>C	ENSP00000315006:p.Ile521Leu		A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	hg19	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475336	0.63737	.	.	ENSG00000137860	ENST00000347644	T	0.04454	3.62	6.17	3.87	0.44632	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.20445	0.575	0.58432	D	0.999999	P	0.39551	0.678	P	0.46339	0.513	T	0.50381	-0.8835	10	0.48119	T	0.1	-12.9596	7.5865	0.27995	0.7845:0.1422:0.0733:0.0	.	521	O43868	S28A2_HUMAN	L	521	ENSP00000315006:I521L	ENSP00000315006:I521L	I	+	1	0	SLC28A2	43349020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.369000	0.52365	0.559000	0.29153	0.533000	0.62120	ATT		0.433	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		C	45561728	A	C	45561728	3	2	66	1	0	0	0	0	1	0	0	0	14538	333	12	5	1611	5	SLC28A2	15	45561728	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08		45561728	56969664	50	4616											
MTFMT	123263	hgsc.bcm.edu	37	15	65295424	65295424	+	Silent	SNP	A	A	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr15:65295424A>C	ENST00000220058.4	-	9	1159	c.1146T>G	c.(1144-1146)gtT>gtG	p.V382V		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	382						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	GTTGCATAGCAACAGTTTTTT	0.348																																																0													111	98	102					15																	65295424		1825	4084	5909	SO:0001819	synonymous_variant	123263			AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.1146T>G	chr15.hg19:g.65295424A>C			B7Z734	Silent	SNP	ENST00000220058.4	hg19	CCDS45280.1																																																																																				0.348	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		C	65295424	A	C	65295424	2	2	66	1	0	0	0	0	0	0	0	1	9926	117	5	5		5	MTFMT	15	65295424	Silent	SNP	A	TCGA-A4-7585-01A-11D-2136-08	19733696	65295424	37235968	51	4617											
C15orf27	123591	hgsc.bcm.edu	37	15	76484312	76484312	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr15:76484312G>A	ENST00000388942.3	+	9	1048	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	258					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCCGCAGTTTGAGATCCGGCA	0.741																																																0													8	10	9					15																	76484312		2045	4020	6065	SO:0001583	missense	123591			AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.772G>A	chr15.hg19:g.76484312G>A	ENSP00000373594:p.Glu258Lys		Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	hg19	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818369	0.71028	.	.	ENSG00000169758	ENST00000388942	T	0.47869	0.83	4.58	4.58	0.56647	.	0.123666	0.56097	D	0.000027	T	0.67392	0.2888	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.71674	0.998;0.996	D;D	0.80764	0.994;0.99	T	0.70590	-0.4830	10	0.52906	T	0.07	-5.2743	14.5154	0.67816	0.0:0.0:1.0:0.0	.	222;258	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	K	258	ENSP00000373594:E258K	ENSP00000373594:E258K	E	+	1	0	C15orf27	74271367	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	8.737000	0.91562	2.097000	0.63578	0.491000	0.48974	GAG		0.741	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		A	76484312	G	A	76484312	3	1	66	1	0	0	0	0	1	0	0	0	1790	1291	45	2	802	2	C15orf27	15	76484312	Missense_Mutation	SNP	G	TCGA-A4-7585-01A-11D-2136-08	11188888	76484312	26047080	52	4618											
CIITA	4261	hgsc.bcm.edu	37	16	10992818	10992818	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr16:10992818T>C	ENST00000324288.8	+	5	528	c.395T>C	c.(394-396)aTg>aCg	p.M132T	CIITA_ENST00000381835.5_Missense_Mutation_p.M132T|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	132	Asp/Glu-rich (acidic).|Required for acetyltransferase activity.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGTGAGAGTATGGAGATGCCA	0.483			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													183	172	176					16																	10992818		2197	4300	6497	SO:0001583	missense	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.395T>C	chr16.hg19:g.10992818T>C	ENSP00000316328:p.Met132Thr		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	hg19	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	T	5.450	0.268042	0.10349	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.70749	-0.51;1.78	3.81	2.68	0.31781	.	1.431470	0.05038	N	0.475874	T	0.52224	0.1721	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.30824	0.296;0.01;0.017;0.017;0.052;0.109	B;B;B;B;B;B	0.28849	0.095;0.005;0.014;0.014;0.047;0.021	T	0.44283	-0.9338	10	0.30078	T	0.28	.	5.0256	0.14383	0.0:0.1558:0.0:0.8442	.	132;132;132;132;133;132	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	T	132;132;133;132	ENSP00000316328:M132T;ENSP00000371257:M132T	ENSP00000316328:M132T	M	+	2	0	CIITA	10900319	0.615000	0.27026	0.024000	0.17045	0.006000	0.05464	1.060000	0.30530	0.628000	0.30357	0.455000	0.32223	ATG		0.483	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		C	10992818	T	C	10992818	3	2	66	1	0	0	0	0	1	0	0	0	3430	1464	51	3	413	3	CIITA	16	10992818	Missense_Mutation	SNP	T	TCGA-A4-7585-01A-11D-2136-08		10992818	79361935	53	4619											
GAN	8139	hgsc.bcm.edu	37	16	81411103	81411103	+	Missense_Mutation	SNP	C	C	T	rs368372086		TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr16:81411103C>T	ENST00000568107.2	+	11	1858	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	566					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				ATCCGACCTTCGCCGTACAGG	0.493																																					GBM(106;1239 1507 7582 9741 33976)											0								C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	237	206	216		1696	5.6	0.9	16		216	0,8600		0,0,4300	no	missense	GAN	NM_022041.3	180	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	566/598	81411103	1,13001	2201	4300	6501	SO:0001583	missense	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1696C>T	chr16.hg19:g.81411103C>T	ENSP00000476795:p.Arg566Cys			Missense_Mutation	SNP	ENST00000568107.2	hg19	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524137	0.64747	2.27E-4	0.0	ENSG00000127688	ENST00000248272	T	0.76448	-1.02	5.58	5.58	0.84498	.	0.183579	0.47852	D	0.000209	T	0.70064	0.3181	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	P	0.47470	0.548	T	0.70103	-0.4964	10	0.29301	T	0.29	.	19.5747	0.95438	0.0:1.0:0.0:0.0	.	566	Q9H2C0	GAN_HUMAN	C	566	ENSP00000248272:R566C	ENSP00000248272:R566C	R	+	1	0	GAN	79968604	1.000000	0.71417	0.950000	0.38849	0.726000	0.41606	4.573000	0.60893	2.631000	0.89168	0.467000	0.42956	CGC		0.493	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			T	81411103	C	T	81411103	3	4	66	1	0	0	0	0	1	0	0	0	6234	884	31	1	1738	1	GAN	16	81411103	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	70418285	81411103	8943650	54	4620											
KRT9	3857	hgsc.bcm.edu	37	17	39726126	39726126	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:39726126C>A	ENST00000246662.4	-	3	932	c.867G>T	c.(865-867)aaG>aaT	p.K289N	KRT9_ENST00000588431.1_Missense_Mutation_p.K56N	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	289	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.K289N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TATGATTCTTCTTGAGGGCCA	0.537																																																1	Substitution - Missense(1)	lung(1)											100	101	101					17																	39726126		2200	4295	6495	SO:0001583	missense	3857				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.867G>T	chr17.hg19:g.39726126C>A	ENSP00000246662:p.Lys289Asn		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	hg19	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974370	0.53720	.	.	ENSG00000171403	ENST00000246662	D	0.93547	-3.24	4.86	2.84	0.33178	Filament (1);	0.249082	0.20923	N	0.083245	D	0.95940	0.8678	M	0.86805	2.84	0.29942	N	0.821017	D	0.58268	0.982	P	0.59825	0.864	D	0.92785	0.6243	10	0.87932	D	0	.	11.0067	0.47637	0.0:0.8453:0.0:0.1547	.	289	P35527	K1C9_HUMAN	N	289	ENSP00000246662:K289N	ENSP00000246662:K289N	K	-	3	2	KRT9	36979652	1.000000	0.71417	0.925000	0.36789	0.365000	0.29674	1.620000	0.36976	0.452000	0.26830	0.491000	0.48974	AAG		0.537	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		A	39726126	C	A	39726126	3	1	66	1	0	0	0	0	1	0	0	0	8503	912	32	4	1024	4	KRT9	17	39726126	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08		39726126	41469084	55	4621											
CACNA1G	8913	hgsc.bcm.edu	37	17	48692731	48692732	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:48692731_48692732delGC	ENST00000359106.5	+	27	4769_4770	c.4769_4770delGC	c.(4768-4770)tgcfs	p.C1590fs	CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.C1579fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.C1567fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.C1590fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.C1556fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.C1538fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.C1556fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.C1572fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.C1579fs|CACNA1G_ENST00000352832.5_Frame_Shift_Del_p.C1556fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.C1572fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.C1549fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.C1590fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.C1572fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.C1533fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.C1590fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.C1567fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.C1597fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.C1579fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.C1545fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.C1590fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.C1545fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.C1556fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.C1579fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.C1556fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1590					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGCCCAGTGCAAACCTTACT	0.629																																																0																																										SO:0001589	frameshift_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4769_4770delGC	chr17.hg19:g.48692731_48692732delGC	ENSP00000352011:p.Cys1590fs		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Frame_Shift_Del	DEL	ENST00000359106.5	hg19	CCDS45730.1																																																																																				0.629	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		-	48692732	GC	-	48692731	7	5	66	1	0	1	0	1	0	0	0	0	2546	1319	46	0	5142	0	CACNA1G	17	48692731	Frame_Shift_Del	DEL	GC	TCGA-A4-7585-01A-11D-2136-08	8966605	48692731	32502479	56	4622											
PPM1D	8493	hgsc.bcm.edu	37	17	58740446	58740446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:58740446G>T	ENST00000305921.3	+	6	1583	c.1351G>T	c.(1351-1353)Gag>Tag	p.E451*	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	451					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GAATTTTTTAGAGGTTTCAGC	0.443											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																				0													100	99	100					17																	58740446		2203	4300	6503	SO:0001587	stop_gained	8493			U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1351G>T	chr17.hg19:g.58740446G>T	ENSP00000306682:p.Glu451*	1033	Q53XP4|Q6P991|Q8IVR6	Nonsense_Mutation	SNP	ENST00000305921.3	hg19	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	G	39	7.470853	0.98306	.	.	ENSG00000170836	ENST00000305921	.	.	.	6.08	6.08	0.98989	.	0.064947	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-21.5774	13.8168	0.63297	0.0695:0.0:0.9305:0.0	.	.	.	.	X	451	.	ENSP00000306682:E451X	E	+	1	0	PPM1D	56095228	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.119000	0.64679	2.894000	0.99253	0.591000	0.81541	GAG		0.443	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		T	58740446	G	T	58740446	4	4	66	1	0	0	0	0	0	1	0	0	12342	943	33	4	1373	4	PPM1D	17	58740446	Nonsense_Mutation	SNP	G	TCGA-A4-7585-01A-11D-2136-08	10047715	58740446	22454764	57	4623											
TANC2	26115	hgsc.bcm.edu	37	17	61490920	61490920	+	Silent	SNP	G	G	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:61490920G>T	ENST00000424789.2	+	22	3697	c.3693G>T	c.(3691-3693)gcG>gcT	p.A1231A	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.A1241A|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1231					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCACATGGGCGATGGCCACCT	0.488																																																0													42	41	41					17																	61490920		2039	4205	6244	SO:0001819	synonymous_variant	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3693G>T	chr17.hg19:g.61490920G>T			Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	hg19	CCDS45754.1																																																																																				0.488	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			T	61490920	G	T	61490920	2	4	66	1	0	0	0	0	0	0	0	1	15550	1045	37	4		4	TANC2	17	61490920	Silent	SNP	G	TCGA-A4-7585-01A-11D-2136-08	2750474	61490920	19704290	58	4624											
ABCA8	10351	hgsc.bcm.edu	37	17	66928478	66928478	+	Missense_Mutation	SNP	T	T	C	rs149928780	byFrequency	TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:66928478T>C	ENST00000269080.2	-	6	885	c.748A>G	c.(748-750)Agg>Ggg	p.R250G	ABCA8_ENST00000430352.2_Missense_Mutation_p.R250G|ABCA8_ENST00000586539.1_Missense_Mutation_p.R250G	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	250					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCTTCATCCTTTTCCTCTCT	0.393													T|||	2	0.000399361	0.0015	0.0	5008	,	,		20503	0.0		0.0	False		,,,				2504	0.0															0								T	GLY/ARG	1,4405	2.1+/-5.4	0,1,2202	89	82	84		748	1.2	0	17	dbSNP_134	84	0,8600		0,0,4300	no	missense	ABCA8	NM_007168.2	125	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	250/1582	66928478	1,13005	2203	4300	6503	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.748A>G	chr17.hg19:g.66928478T>C	ENSP00000269080:p.Arg250Gly		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	hg19	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	7.800	0.713528	0.15306	2.27E-4	0.0	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.84070	-1.8;-1.8	4.86	1.22	0.21188	.	0.865701	0.09871	N	0.744923	T	0.76550	0.4003	L	0.55481	1.735	0.09310	N	1	B;B;B;B;B	0.27951	0.195;0.157;0.044;0.109;0.034	B;B;B;B;B	0.29524	0.089;0.103;0.038;0.098;0.044	T	0.65253	-0.6213	10	0.56958	D	0.05	.	3.7768	0.08663	0.3317:0.0923:0.0:0.576	.	189;250;250;250;250	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	G	250;250;189;250	ENSP00000269080:R250G;ENSP00000402814:R250G	ENSP00000269080:R250G	R	-	1	2	ABCA8	64440073	0.000000	0.05858	0.002000	0.10522	0.197000	0.23852	0.098000	0.15189	0.065000	0.16485	0.460000	0.39030	AGG		0.393	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		C	66928478	T	C	66928478	3	2	66	1	0	0	0	0	1	0	0	0	38	1608	56	3	4129	3	ABCA8	17	66928478	Missense_Mutation	SNP	T	TCGA-A4-7585-01A-11D-2136-08	5437558	66928478	14266732	59	4625											
ABCA5	23461	hgsc.bcm.edu	37	17	67304486	67304486	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:67304486C>G	ENST00000392676.3	-	5	557	c.493G>C	c.(493-495)Gct>Cct	p.A165P	ABCA5_ENST00000588877.1_Missense_Mutation_p.A165P|ABCA5_ENST00000392677.2_Missense_Mutation_p.A165P			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	165					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TACTGAGCAGCCTCACATGAT	0.378																																																0													98	103	101					17																	67304486		2203	4300	6503	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.493G>C	chr17.hg19:g.67304486C>G	ENSP00000376443:p.Ala165Pro		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	hg19	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710325	0.48517	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.39229	1.09;1.09	4.96	4.96	0.65561	.	0.108387	0.40908	D	0.000993	T	0.54727	0.1876	L	0.47190	1.495	0.49483	D	0.999799	D;D	0.63880	0.984;0.993	P;D	0.67725	0.877;0.953	T	0.51276	-0.8726	9	.	.	.	.	13.9115	0.63869	0.1528:0.8472:0.0:0.0	.	165;165	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	P	165	ENSP00000376444:A165P;ENSP00000376443:A165P	.	A	-	1	0	ABCA5	64816081	0.993000	0.37304	0.999000	0.59377	0.987000	0.75469	2.955000	0.49121	2.293000	0.77203	0.585000	0.79938	GCT		0.378	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		G	67304486	C	G	67304486	3	3	66	1	0	0	0	0	1	0	0	0	35	739	26	4	4575	4	ABCA5	17	67304486	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08	376008	67304486	13890724	60	4626											
GAA	2548	hgsc.bcm.edu	37	17	78085893	78085894	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:78085893_78085894delCC	ENST00000302262.3	+	12	1967_1968	c.1748_1749delCC	c.(1747-1749)tccfs	p.S583fs	GAA_ENST00000390015.3_Frame_Shift_Del_p.S583fs	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	583					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GCCATCGCCTCCCACAGGTGAG	0.649																																																0			GRCh37	CM082761	GAA	M																																				SO:0001589	frameshift_variant	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1748_1749delCC	chr17.hg19:g.78085893_78085894delCC	ENSP00000305692:p.Ser583fs		Q09GN4|Q14351|Q16302|Q8IWE7	Frame_Shift_Del	DEL	ENST00000302262.3	hg19	CCDS32760.1																																																																																				0.649	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			-	78085894	CC	-	78085893	7	5	66	1	0	1	0	1	0	0	0	0	6149	855	30	0	1790	0	GAA	17	78085893	Frame_Shift_Del	DEL	CC	TCGA-A4-7585-01A-11D-2136-08	10781407	78085893	3109317	61	4627											
ZNF681	148213	hgsc.bcm.edu	37	19	23926507	23926507	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr19:23926507C>G	ENST00000402377.3	-	4	1986	c.1845G>C	c.(1843-1845)gaG>gaC	p.E615D	ZNF681_ENST00000395385.3_Missense_Mutation_p.E546D	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	615					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTAGAGTTTCTCACCAGTAT	0.333																																																0													60	61	61					19																	23926507		2202	4300	6502	SO:0001583	missense	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1845G>C	chr19.hg19:g.23926507C>G	ENSP00000384000:p.Glu615Asp		B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	hg19	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	8.238	0.806253	0.16467	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.34472	1.36;1.36	1.44	1.44	0.22558	Zinc finger, C2H2 (1);	.	.	.	.	T	0.31327	0.0793	L	0.49350	1.555	0.25356	N	0.988829	B	0.18013	0.025	B	0.17979	0.02	T	0.31447	-0.9943	9	0.62326	D	0.03	.	8.329	0.32175	0.0:1.0:0.0:0.0	.	615	Q96N22	ZN681_HUMAN	D	615;546	ENSP00000384000:E615D;ENSP00000378783:E546D	ENSP00000378783:E546D	E	-	3	2	ZNF681	23718347	0.416000	0.25424	0.017000	0.16124	0.114000	0.19823	0.067000	0.14510	0.754000	0.32968	0.205000	0.17691	GAG		0.333	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		G	23926507	C	G	23926507	3	3	66	1	0	0	0	0	1	0	0	0	18093	912	32	4	96	4	ZNF681	19	23926507	Missense_Mutation	SNP	C	TCGA-A4-7585-01A-11D-2136-08		23926507	35202476	62	4628											
SLC23A2	9962	hgsc.bcm.edu	37	20	4855238	4855238	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr20:4855238A>T	ENST00000379333.1	-	10	1321	c.929T>A	c.(928-930)cTg>cAg	p.L310Q	SLC23A2_ENST00000338244.1_Missense_Mutation_p.L310Q|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.L196Q	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	310					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CATTTTGAACAGCTGTAACTT	0.383																																																0													195	187	190					20																	4855238		2203	4300	6503	SO:0001583	missense	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.929T>A	chr20.hg19:g.4855238A>T	ENSP00000368637:p.Leu310Gln		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	hg19	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811425	0.32053	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.21543	2.0;2.0;2.0	5.44	5.44	0.79542	.	0.062992	0.64402	D	0.000005	T	0.40694	0.1127	M	0.62088	1.915	0.58432	D	0.999999	D;D;D	0.59767	0.986;0.976;0.976	P;P;P	0.60789	0.876;0.879;0.879	T	0.28996	-1.0026	10	0.87932	D	0	-14.7288	14.3204	0.66482	1.0:0.0:0.0:0.0	.	196;310;310	B4DJZ1;A0MSJ5;Q9UGH3	.;.;S23A2_HUMAN	Q	310;310;196	ENSP00000368637:L310Q;ENSP00000344322:L310Q;ENSP00000406601:L196Q	ENSP00000344322:L310Q	L	-	2	0	SLC23A2	4803238	1.000000	0.71417	0.998000	0.56505	0.004000	0.04260	9.339000	0.96797	2.063000	0.61619	0.533000	0.62120	CTG		0.383	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			T	4855238	A	T	4855238	3	4	66	1	0	0	0	0	1	0	0	0	14469	188	7	5	1055	5	SLC23A2	20	4855238	Missense_Mutation	SNP	A	TCGA-A4-7585-01A-11D-2136-08		4855238	58170282	63	4629											
MYO18B	84700	hgsc.bcm.edu	37	22	26423002	26423002	+	Silent	SNP	C	C	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr22:26423002C>G	ENST00000407587.2	+	43	7234	c.7065C>G	c.(7063-7065)ctC>ctG	p.L2355L	MYO18B_ENST00000335473.7_Silent_p.L2354L|MYO18B_ENST00000536101.1_Silent_p.L2354L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2354						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCGAGTCCCTCTTAGAATCCA	0.572																																																0													86	94	91					22																	26423002		1936	4137	6073	SO:0001819	synonymous_variant	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7065C>G	chr22.hg19:g.26423002C>G			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	hg19		.	.	.	.	.	.	.	.	.	.	C	3.671	-0.067510	0.07273	.	.	ENSG00000133454	ENST00000543971	.	.	.	4.89	-0.276	0.12902	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.31595	N	0.653425	.	.	.	.	.	.	T	0.47100	-0.9143	4	.	.	.	.	8.3531	0.32314	0.0:0.4167:0.4883:0.095	.	.	.	.	C	304	.	.	S	+	2	0	MYO18B	24753002	0.045000	0.20229	0.019000	0.16419	0.647000	0.38526	-0.357000	0.07651	-0.215000	0.10063	0.462000	0.41574	TCT		0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		G	26423002	C	G	26423002	2	3	66	1	0	0	0	0	0	0	0	1	10068	900	32	4		4	MYO18B	22	26423002	Silent	SNP	C	TCGA-A4-7585-01A-11D-2136-08		26423002	24881564	64	4630											
PKDREJ	10343	hgsc.bcm.edu	37	22	46653660	46653660	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr22:46653660T>G	ENST00000253255.5	-	1	5559	c.5560A>C	c.(5560-5562)Aat>Cat	p.N1854H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1854					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTAAATCCATTGGTACTCTCA	0.383																																																0													133	136	135					22																	46653660		2203	4300	6503	SO:0001583	missense	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5560A>C	chr22.hg19:g.46653660T>G	ENSP00000253255:p.Asn1854His		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	hg19	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	4.903	0.167837	0.09339	.	.	ENSG00000130943	ENST00000253255	T	0.70045	-0.45	4.51	-2.95	0.05564	Polycystin cation channel, PKD1/PKD2 (1);	1.774300	0.02687	N	0.110187	T	0.44371	0.1290	N	0.11560	0.145	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.20940	-1.0260	10	0.30078	T	0.28	-0.4113	5.5709	0.17196	0.0:0.3289:0.2649:0.4062	.	1854	Q9NTG1	PKDRE_HUMAN	H	1854	ENSP00000253255:N1854H	ENSP00000253255:N1854H	N	-	1	0	PKDREJ	45032324	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.516000	0.06282	-0.535000	0.06307	0.374000	0.22700	AAT		0.383	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46653660	T	G	46653660	3	3	66	1	0	0	0	0	1	0	0	0	11972	1812	63	5	1205	5	PKDREJ	22	46653660	Missense_Mutation	SNP	T	TCGA-A4-7585-01A-11D-2136-08	20230658	46653660	4650906	65	4631											
SAPS2	9701	hgsc.bcm.edu	37	22	50878437	50878437	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr22:50878437G>T	ENST00000216061.5	+	22	2703	c.2333G>T	c.(2332-2334)aGc>aTc	p.S778I	PPP6R2_ENST00000395744.3_Missense_Mutation_p.S751I|PPP6R2_ENST00000395741.3_Missense_Mutation_p.S752I|PPP6R2_ENST00000359139.3_Missense_Mutation_p.S752I			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	778						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ACAGAATGCAGCCATGCTGAG	0.642																																																0													42	42	42					22																	50878437		2203	4300	6503	SO:0001583	missense	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2333G>T	chr22.hg19:g.50878437G>T	ENSP00000216061:p.Ser778Ile		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	hg19		.	.	.	.	.	.	.	.	.	.	G	16.34	3.095777	0.56075	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.84	2.68	0.31781	.	0.269718	0.36628	N	0.002493	T	0.63153	0.2487	M	0.70275	2.135	0.09310	N	1	D;D;D;D;D;D	0.71674	0.993;0.992;0.986;0.998;0.996;0.998	P;D;P;D;D;D	0.70716	0.877;0.917;0.828;0.956;0.917;0.97	T	0.55296	-0.8163	10	0.72032	D	0.01	-11.7634	10.2693	0.43473	0.0:0.1469:0.7006:0.1524	.	311;778;778;752;751;752	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	I	752;752;751;778	ENSP00000352051:S752I;ENSP00000379090:S752I;ENSP00000379093:S751I;ENSP00000216061:S778I	ENSP00000216061:S778I	S	+	2	0	PPP6R2	49225303	0.020000	0.18652	0.001000	0.08648	0.015000	0.08874	1.601000	0.36773	0.523000	0.28482	0.561000	0.74099	AGC		0.642	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		T	50878437	G	T	50878437	3	4	66	1	0	0	0	0	1	0	0	0	13843	971	34	4	2322	4	SAPS2	22	50878437	Missense_Mutation	SNP	G	TCGA-A4-7585-01A-11D-2136-08	4224777	50878437	426129	66	4632											
PTCHD1	139411	hgsc.bcm.edu	37	X	23411958	23411959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chrX:23411958_23411959insG	ENST00000379361.4	+	3	3183_3184	c.2323_2324insG	c.(2323-2325)tttfs	p.F775fs		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	775					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GTTATCCACATTTGTTCTGGGC	0.371																																																0																																										SO:0001589	frameshift_variant	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	Exception_encountered	chrX.hg19:g.23411958_23411959insG	ENSP00000368666:p.Phe775fs		B4DQH0|Q0IJ60|Q6P6B8	Frame_Shift_Ins	INS	ENST00000379361.4	hg19	CCDS35215.2																																																																																				0.371	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		G	23411959	-	G	23411958	7	5	66	1	0	1	1	0	0	0	0	0	12737	1493	52	0	2333	0	PTCHD1	23	23411958	Frame_Shift_Ins	INS	-	TCGA-A4-7585-01A-11D-2136-08		23411958	131858602	67	4633											
FMR1	2332	hgsc.bcm.edu	37	X	147011651	147011651	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chrX:147011651T>A	ENST00000370475.4	+	7	646	c.518T>A	c.(517-519)aTc>aAc	p.I173N	FMR1_ENST00000334557.6_Missense_Mutation_p.I173N|FMR1_ENST00000218200.8_Missense_Mutation_p.I173N|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000439526.2_Missense_Mutation_p.I173N|FMR1_ENST00000370471.3_Missense_Mutation_p.I173N|FMR1_ENST00000370470.1_Missense_Mutation_p.I173N|FMR1_ENST00000370477.1_Missense_Mutation_p.I173N	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	173					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTAGTCCATCAATGAAGTC	0.353									Fragile X syndrome																																							0													116	99	105					X																	147011651		2203	4300	6503	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.518T>A	chrX.hg19:g.147011651T>A	ENSP00000359506:p.Ile173Asn		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	hg19	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	T	7.528	0.658159	0.14645	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.56103	1.25;0.48;1.26;1.26;1.56;1.27;1.28	5.12	5.12	0.69794	.	0.053956	0.85682	D	0.000000	T	0.40119	0.1104	N	0.02011	-0.69	0.80722	D	1	B;P;B;D;D	0.62365	0.0;0.88;0.007;0.991;0.98	B;B;B;P;P	0.59889	0.001;0.296;0.008;0.865;0.805	T	0.45760	-0.9239	10	0.17832	T	0.49	-24.9991	13.3209	0.60432	0.0:0.0:0.0:1.0	.	173;173;89;173;173	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	N	173	ENSP00000218200:I173N;ENSP00000359502:I173N;ENSP00000359508:I173N;ENSP00000359506:I173N;ENSP00000355115:I173N;ENSP00000395923:I173N;ENSP00000359501:I173N	ENSP00000218200:I173N	I	+	2	0	FMR1	146819343	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	6.149000	0.71795	1.808000	0.52836	0.430000	0.28490	ATC		0.353	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		A	147011651	T	A	147011651	3	1	66	1	0	0	0	0	1	0	0	0	5962	1435	50	5	544	5	FMR1	23	147011651	Missense_Mutation	SNP	T	TCGA-A4-7585-01A-11D-2136-08	123599693	147011651	8258909	68	4634											
TMEM200B	399474	hgsc.bcm.edu	37	1	29447533	29447533	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:29447533G>A	ENST00000420504.2	-	2	965	c.808C>T	c.(808-810)Ctt>Ttt	p.L270F	TMEM200B_ENST00000521452.1_Missense_Mutation_p.L270F	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	270						integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		GGGGCCCCAAGGAGGAGCTCC	0.622																																																0													23	25	25					1																	29447533		2202	4300	6502	SO:0001583	missense	399474				CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.808C>T	chr1.hg19:g.29447533G>A	ENSP00000428544:p.Leu270Phe		Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	ENST00000420504.2	hg19	CCDS30658.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565457	0.65651	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	4.15	4.15	0.48705	.	0.000000	0.35903	U	0.002907	T	0.64681	0.2620	L	0.27053	0.805	0.35733	D	0.818101	D	0.89917	1.0	D	0.80764	0.994	T	0.75133	-0.3425	9	0.87932	D	0	.	15.9517	0.79843	0.0:0.0:1.0:0.0	.	270	Q69YZ2	T200B_HUMAN	F	270	.	ENSP00000428544:L270F	L	-	1	0	TMEM200B	29320120	0.952000	0.32445	1.000000	0.80357	0.996000	0.88848	2.717000	0.47227	2.288000	0.76882	0.655000	0.94253	CTT		0.622	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010377.2	NM_001003682		A	29447533	G	A	29447533	3	1	67	1	0	0	0	0	1	0	0	0	16129	1000	35	2	119	2	TMEM200B	1	29447533	Missense_Mutation	SNP	G	TCGA-A4-7732-01A-11D-2136-08		29447533	219803088	1	4635											
ABCA4	24	hgsc.bcm.edu	37	1	94548962	94548962	+	Silent	SNP	G	G	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:94548962G>A	ENST00000370225.3	-	7	890	c.804C>T	c.(802-804)atC>atT	p.I268I	ABCA4_ENST00000535735.1_Silent_p.I268I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	268					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATCTCAGATTGATACCTTGAG	0.348																																																0													188	206	200					1																	94548962		2203	4300	6503	SO:0001819	synonymous_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.804C>T	chr1.hg19:g.94548962G>A			O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	hg19	CCDS747.1																																																																																				0.348	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94548962	G	A	94548962	2	1	67	1	0	0	0	0	0	0	0	1	34	1280	45	2		2	ABCA4	1	94548962	Silent	SNP	G	TCGA-A4-7732-01A-11D-2136-08	65101429	94548962	154701659	2	4636											
PTPN22	26191	hgsc.bcm.edu	37	1	114402065	114402065	+	Silent	SNP	A	A	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:114402065A>G	ENST00000359785.5	-	2	240	c.105T>C	c.(103-105)tcT>tcC	p.S35S	PTPN22_ENST00000528414.1_Silent_p.S35S|PTPN22_ENST00000525799.1_Silent_p.S35S|PTPN22_ENST00000420377.2_Silent_p.S35S|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000460620.1_Silent_p.S35S|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000538253.1_5'UTR	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	35	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTTGGTAGATTGCCTTT	0.373																																																0													151	151	151					1																	114402065		2203	4300	6503	SO:0001819	synonymous_variant	26191			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.105T>C	chr1.hg19:g.114402065A>G			A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Silent	SNP	ENST00000359785.5	hg19	CCDS863.1																																																																																				0.373	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		G	114402065	A	G	114402065	2	3	67	1	0	0	0	0	0	0	0	1	12793	407	15	3		3	PTPN22	1	114402065	Silent	SNP	A	TCGA-A4-7732-01A-11D-2136-08	19853103	114402065	134848556	3	4637											
CRNN	49860	hgsc.bcm.edu	37	1	152382377	152382391	+	In_Frame_Del	DEL	TCAGGGTTGCTCACT	TCAGGGTTGCTCACT	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	TCAGGGTTGCTCACT	TCAGGGTTGCTCACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:152382377_152382391delTCAGGGTTGCTCACT	ENST00000271835.3	-	3	1229_1243	c.1167_1181delAGTGAGCAACCCTGA	c.(1165-1182)caagtgagcaaccctgag>cag	p.VSNPE390del	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	390					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCCTGCCTCAGGGTTGCTCACTTGCATCCATC	0.595																																																0																																										SO:0001651	inframe_deletion	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1167_1181delAGTGAGCAACCCTGA	chr1.hg19:g.152382377_152382391delTCAGGGTTGCTCACT	ENSP00000271835:p.Val390_Glu394del		B2RE60|Q8N613	In_Frame_Del	DEL	ENST00000271835.3	hg19	CCDS1010.1																																																																																				0.595	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		-	152382391	TCAGGGTTGCTCACT	-	152382377	7	5	67	1	0	1	0	1	0	0	0	0	3894	1551	54	0	310	0	CRNN	1	152382377	In_Frame_Del	DEL	TCAGGGTTGCTCACT	TCGA-A4-7732-01A-11D-2136-08	37980312	152382377	96868244	4	4638											
CABC1	56997	hgsc.bcm.edu	37	1	227174187	227174187	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:227174187A>G	ENST00000366779.1	+	20	4464	c.1693A>G	c.(1693-1695)Atc>Gtc	p.I565V	ADCK3_ENST00000366778.1_Missense_Mutation_p.I513V|ADCK3_ENST00000433743.2_Missense_Mutation_p.I239V|ADCK3_ENST00000366777.3_Missense_Mutation_p.I565V|ADCK3_ENST00000458507.2_Missense_Mutation_p.I286V|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	565					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TGCCATCCTCATCCTGGGGGA	0.592																																																0													89	90	90					1																	227174187		2203	4300	6503	SO:0001583	missense	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1693A>G	chr1.hg19:g.227174187A>G	ENSP00000355741:p.Ile565Val		Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	hg19	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198951	0.58126	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.74737	-0.76;-0.73;-0.76;-0.87;-0.43;-0.83;-0.71	5.87	5.87	0.94306	.	0.044860	0.85682	D	0.000000	T	0.71117	0.3302	L	0.60012	1.86	0.80722	D	1	B;B	0.20550	0.001;0.046	B;B	0.19148	0.01;0.024	T	0.66101	-0.6007	10	0.24483	T	0.36	-21.7545	16.2688	0.82603	1.0:0.0:0.0:0.0	.	239;565	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	V	565;513;565;490;286;410;516;239	ENSP00000355741:I565V;ENSP00000355740:I513V;ENSP00000355739:I565V;ENSP00000355738:I490V;ENSP00000403704:I286V;ENSP00000355737:I410V;ENSP00000404550:I239V	ENSP00000355737:I410V	I	+	1	0	ADCK3	225240810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.289000	0.96061	2.244000	0.73946	0.533000	0.62120	ATC		0.592	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		G	227174187	A	G	227174187	3	3	67	1	0	0	0	0	1	0	0	0	2529	217	8	3	1747	3	CABC1	1	227174187	Missense_Mutation	SNP	A	TCGA-A4-7732-01A-11D-2136-08	74791810	227174187	22076434	5	4639											
PCNXL2	80003	hgsc.bcm.edu	37	1	233134020	233134020	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr1:233134020G>A	ENST00000258229.9	-	32	6002	c.5768C>T	c.(5767-5769)tCc>tTc	p.S1923F	PCNXL2_ENST00000344698.2_Missense_Mutation_p.S575F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1923						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCTTCACAGGATGACACCCC	0.592																																																0													43	46	45					1																	233134020		2040	4195	6235	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5768C>T	chr1.hg19:g.233134020G>A	ENSP00000258229:p.Ser1923Phe		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	hg19	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779932	0.31502	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.24723	1.84;3.01	4.86	4.86	0.63082	.	1.450940	0.04437	N	0.370187	T	0.23410	0.0566	L	0.36672	1.1	0.25414	N	0.988333	P;B	0.40266	0.71;0.302	B;B	0.26614	0.071;0.047	T	0.43491	-0.9388	10	0.72032	D	0.01	.	15.136	0.72566	0.0:0.0:1.0:0.0	.	1923;575	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	F	575;1923	ENSP00000340759:S575F;ENSP00000258229:S1923F	ENSP00000258229:S1923F	S	-	2	0	PCNXL2	231200643	0.023000	0.18921	0.320000	0.25306	0.131000	0.20780	2.059000	0.41384	2.255000	0.74692	0.563000	0.77884	TCC		0.592	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		A	233134020	G	A	233134020	3	1	67	1	0	0	0	0	1	0	0	0	11594	1174	41	2	657	2	PCNXL2	1	233134020	Missense_Mutation	SNP	G	TCGA-A4-7732-01A-11D-2136-08	5959833	233134020	16116601	6	4640											
C2orf3	6936	hgsc.bcm.edu	37	2	75929399	75929399	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:75929399G>T	ENST00000321027.3	-	3	678	c.545C>A	c.(544-546)cCt>cAt	p.P182H	GCFC2_ENST00000470503.1_Missense_Mutation_p.P182H|GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Missense_Mutation_p.P182H	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	182					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										ATGGTCATCAGGCTCACTCTC	0.418																																																0													196	185	189					2																	75929399		2203	4300	6503	SO:0001583	missense	6936			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.545C>A	chr2.hg19:g.75929399G>T	ENSP00000318690:p.Pro182His		A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	hg19	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505961	0.64410	.	.	ENSG00000005436	ENST00000321027;ENST00000541687	T;T	0.34072	2.49;1.38	4.85	4.85	0.62838	.	0.455607	0.22605	N	0.057903	T	0.54822	0.1882	M	0.66939	2.045	0.27164	N	0.961081	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.49031	-0.8981	10	0.56958	D	0.05	-15.8005	9.7929	0.40717	0.0967:0.0:0.9033:0.0	.	182;182	A4UHQ8;P16383	.;GCF_HUMAN	H	182	ENSP00000318690:P182H;ENSP00000437767:P182H	ENSP00000318690:P182H	P	-	2	0	C2orf3	75782907	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.496000	0.53288	2.620000	0.88729	0.591000	0.81541	CCT		0.418	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		T	75929399	G	T	75929399	3	4	67	1	0	0	0	0	1	0	0	0	2164	1000	35	4	1860	4	C2orf3	2	75929399	Missense_Mutation	SNP	G	TCGA-A4-7732-01A-11D-2136-08		75929399	167269974	7	4641											
NCAPH	23397	hgsc.bcm.edu	37	2	97017659	97017669	+	Frame_Shift_Del	DEL	AGAAGTGAACT	AGAAGTGAACT	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	AGAAGTGAACT	AGAAGTGAACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:97017659_97017669delAGAAGTGAACT	ENST00000240423.4	+	7	854_864	c.811_821delAGAAGTGAACT	c.(811-822)agaagtgaactgfs	p.RSEL271fs	NCAPH_ENST00000455200.1_Frame_Shift_Del_p.RSEL260fs|NCAPH_ENST00000427946.1_Frame_Shift_Del_p.RSEL135fs	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	271					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGGACTACAGAAGTGAACTGCTGTTTCCC	0.479																																																0																																										SO:0001589	frameshift_variant	23397			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.811_821delAGAAGTGAACT	chr2.hg19:g.97017659_97017669delAGAAGTGAACT	ENSP00000240423:p.Arg271fs		B4E189|Q8TB87	Frame_Shift_Del	DEL	ENST00000240423.4	hg19	CCDS2021.1																																																																																				0.479	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		-	97017669	AGAAGTGAACT	-	97017659	7	5	67	1	0	1	0	1	0	0	0	0	10211	180	7	0	837	0	NCAPH	2	97017659	Frame_Shift_Del	DEL	AGAAGTGAACT	TCGA-A4-7732-01A-11D-2136-08	21088260	97017659	146181714	8	4642											
IL1R1	3554	hgsc.bcm.edu	37	2	102792833	102792833	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:102792833G>C	ENST00000410023.1	+	12	1642	c.1324G>C	c.(1324-1326)Gaa>Caa	p.E442Q	IL1R1_ENST00000409589.1_Intron|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Missense_Mutation_p.E411Q|IL1R1_ENST00000233946.3_Missense_Mutation_p.E442Q			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	442	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GGTCATTAATGAAAACGTAAA	0.373																																																0													49	51	50					2																	102792833		2203	4300	6503	SO:0001583	missense	3554			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1324G>C	chr2.hg19:g.102792833G>C	ENSP00000386380:p.Glu442Gln		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	hg19	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154988	0.78114	.	.	ENSG00000115594	ENST00000409929;ENST00000428279;ENST00000410023;ENST00000233946	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.61	4.73	0.59995	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.465576	0.25450	N	0.030588	T	0.33556	0.0867	M	0.77313	2.365	0.37504	D	0.916883	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.983	T	0.18808	-1.0325	10	0.62326	D	0.03	.	13.9351	0.64021	0.0726:0.0:0.9274:0.0	.	411;442	B8ZZW4;P14778	.;IL1R1_HUMAN	Q	411;298;442;442	ENSP00000386776:E411Q;ENSP00000410461:E298Q;ENSP00000386380:E442Q;ENSP00000233946:E442Q	ENSP00000233946:E442Q	E	+	1	0	IL1R1	102159265	1.000000	0.71417	0.947000	0.38551	0.951000	0.60555	4.341000	0.59335	2.646000	0.89796	0.563000	0.77884	GAA		0.373	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			C	102792833	G	C	102792833	3	2	67	1	0	0	0	0	1	0	0	0	7660	1291	45	4	1362	4	IL1R1	2	102792833	Missense_Mutation	SNP	G	TCGA-A4-7732-01A-11D-2136-08	5775174	102792833	140406540	9	4643											
SCN2A	6326	hgsc.bcm.edu	37	2	166210795	166210795	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:166210795A>C	ENST00000375437.2	+	17	3303	c.3013A>C	c.(3013-3015)Att>Ctt	p.I1005L	SCN2A_ENST00000283256.6_Missense_Mutation_p.I1005L|SCN2A_ENST00000375427.2_Missense_Mutation_p.I1005L|SCN2A_ENST00000357398.3_Missense_Mutation_p.I1005L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1005					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAATCTCCAGATTGCTGTGGG	0.383																																																0													146	151	149					2																	166210795		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3013A>C	chr2.hg19:g.166210795A>C	ENSP00000364586:p.Ile1005Leu		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	hg19	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257989	0.39896	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.6	5.6	0.85130	Sodium ion transport-associated (1);	0.080914	0.52532	D	0.000063	D	0.83101	0.5181	L	0.53671	1.685	0.49915	D	0.999837	B;B	0.17268	0.021;0.005	B;B	0.25291	0.059;0.042	T	0.78513	-0.2175	10	0.30854	T	0.27	.	15.7718	0.78176	1.0:0.0:0.0:0.0	.	1005;1005	Q99250-2;Q99250	.;SCN2A_HUMAN	L	1005	ENSP00000364586:I1005L;ENSP00000349973:I1005L;ENSP00000283256:I1005L;ENSP00000364576:I1005L	ENSP00000283256:I1005L	I	+	1	0	SCN2A	165919041	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.572000	0.82409	2.110000	0.64415	0.482000	0.46254	ATT		0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		C	166210795	A	C	166210795	3	2	67	1	0	0	0	0	1	0	0	0	13922	333	12	5	3171	5	SCN2A	2	166210795	Missense_Mutation	SNP	A	TCGA-A4-7732-01A-11D-2136-08	63417962	166210795	76988578	10	4644											
PDE11A	50940	hgsc.bcm.edu	37	2	178936278	178936278	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr2:178936278G>T	ENST00000286063.6	-	1	1204	c.887C>A	c.(886-888)aCg>aAg	p.T296K	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	296	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	AATGTTGACCGTTTCTCCATG	0.537									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							0													153	132	139					2																	178936278		2203	4300	6503	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.887C>A	chr2.hg19:g.178936278G>T	ENSP00000286063:p.Thr296Lys		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	hg19	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521048	0.85495	.	.	ENSG00000128655	ENST00000286063	T	0.68181	-0.31	5.63	5.63	0.86233	GAF (2);	0.042243	0.85682	D	0.000000	D	0.82559	0.5063	M	0.82716	2.605	0.80722	D	1	D	0.64830	0.994	D	0.65140	0.932	T	0.82643	-0.0356	10	0.44086	T	0.13	.	18.6717	0.91514	0.0:0.0:1.0:0.0	.	296	Q9HCR9	PDE11_HUMAN	K	296	ENSP00000286063:T296K	ENSP00000286063:T296K	T	-	2	0	PDE11A	178644524	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.379000	0.97198	2.650000	0.89964	0.655000	0.94253	ACG		0.537	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			T	178936278	G	T	178936278	3	4	67	1	0	0	0	0	1	0	0	0	11633	1145	40	4	1994	4	PDE11A	2	178936278	Missense_Mutation	SNP	G	TCGA-A4-7732-01A-11D-2136-08	12725483	178936278	64263095	11	4645											
KIAA0226	9711	hgsc.bcm.edu	37	3	197427622	197427622	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr3:197427622C>G	ENST00000296343.5	-	7	1122	c.1123G>C	c.(1123-1125)Ggt>Cgt	p.G375R	KIAA0226_ENST00000449205.1_Missense_Mutation_p.G375R|KIAA0226_ENST00000273582.5_Missense_Mutation_p.G315R|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000389665.5_Missense_Mutation_p.G375R	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	375	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCTCCCCACCTCCTTCCTGG	0.577																																					Esophageal Squamous(3;167 355 3763 15924)											0													57	61	60					3																	197427622		2021	4184	6205	SO:0001583	missense	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1123G>C	chr3.hg19:g.197427622C>G	ENSP00000296343:p.Gly375Arg		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	hg19	CCDS43195.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	1.899|1.899|1.899	-0.453623|-0.453623|-0.453623	0.04540|0.04540|0.04540	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000447048;ENST00000449205|ENST00000413360	.|.|.	.|.|.	.|.|.	5.85|5.85|5.85	2.98|2.98|2.98	0.34508|0.34508|0.34508	.|.|.	.|0.954594|.	.|0.08839|.	.|N|.	.|0.886108|.	T|T|T	0.23886|0.23886|0.23886	0.0578|0.0578|0.0578	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|P;P;P;P;B|.	.|0.52577|.	.|0.954;0.785;0.704;0.905;0.282|.	.|P;P;B;B;B|.	.|0.50192|.	.|0.634;0.49;0.299;0.394;0.051|.	T|T|T	0.20538|0.20538|0.20538	-1.0272|-1.0272|-1.0272	5|9|5	.|0.16896|.	.|T|.	.|0.51|.	.|.|.	7.6388|7.6388|7.6388	0.28282|0.28282|0.28282	0.0:0.5923:0.0:0.4077|0.0:0.5923:0.0:0.4077|0.0:0.5923:0.0:0.4077	.|.|.	.|375;208;375;315;375|.	.|E9PEM3;Q5HYI6;Q92622-3;Q92622-2;Q92622|.	.|.;.;.;.;RUBIC_HUMAN|.	D|R|T	133|315;375;375;7;375|353	.|.|.	.|ENSP00000273582:G315R|.	E|G|R	-|-|-	3|1|2	2|0|0	KIAA0226|KIAA0226|KIAA0226	198912019|198912019|198912019	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.010000|0.010000|0.010000	0.14722|0.14722|0.14722	0.364000|0.364000|0.364000	0.29643|0.29643|0.29643	0.779000|0.779000|0.779000	0.26746|0.26746|0.26746	0.756000|0.756000|0.756000	0.33013|0.33013|0.33013	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGT|AGG		0.577	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		G	197427622	C	G	197427622	3	3	67	1	0	0	0	0	1	0	0	0	8164	681	24	4	1900	4	KIAA0226	3	197427622	Missense_Mutation	SNP	C	TCGA-A4-7732-01A-11D-2136-08		197427622	594808	12	4646											
TRIO	7204	hgsc.bcm.edu	37	5	14387672	14387672	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr5:14387672delT	ENST00000344204.4	+	22	3720	c.3696delT	c.(3694-3696)tctfs	p.S1232fs	TRIO_ENST00000537187.1_Frame_Shift_Del_p.S1232fs|TRIO_ENST00000509967.2_Frame_Shift_Del_p.S1183fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1232					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAGATTTCTCTCTGCGGATGG	0.433																																																0													118	132	127					5																	14387672		2203	4300	6503	SO:0001589	frameshift_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3696delT	chr5.hg19:g.14387672delT	ENSP00000339299:p.Ser1232fs		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Frame_Shift_Del	DEL	ENST00000344204.4	hg19	CCDS3883.1																																																																																				0.433	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		-	14387672	T	-	14387672	7	5	67	1	0	1	0	1	0	0	0	0	16557	1538	54	0	3782	0	TRIO	5	14387672	Frame_Shift_Del	DEL	T	TCGA-A4-7732-01A-11D-2136-08		14387672	166527588	13	4647											
PCDHGB7	56099	hgsc.bcm.edu	37	5	140798373	140798373	+	Missense_Mutation	SNP	C	C	G	rs200530054		TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr5:140798373C>G	ENST00000398594.2	+	1	947	c.947C>G	c.(946-948)aCg>aGg	p.T316R	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	316	Cadherin 3. {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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGATATACGATAAACATA	0.408																																																0													66	62	63					5																	140798373		1868	4100	5968	SO:0001583	missense	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.947C>G	chr5.hg19:g.140798373C>G	ENSP00000381594:p.Thr316Arg		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	hg19	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	11.77	1.736942	0.30774	.	.	ENSG00000254122	ENST00000398594	T	0.51325	0.71	5.7	3.93	0.45458	Cadherin (5);Cadherin-like (1);	1.919090	0.04837	U	0.439841	T	0.56615	0.1997	L	0.49350	1.555	0.09310	N	1	D;D	0.54397	0.966;0.958	P;P	0.57204	0.815;0.795	T	0.26916	-1.0089	10	0.54805	T	0.06	.	4.1608	0.10282	0.1578:0.5582:0.0:0.284	.	316;316	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	R	316	ENSP00000381594:T316R	ENSP00000381594:T316R	T	+	2	0	PCDHGB7	140778557	0.000000	0.05858	0.048000	0.18961	0.684000	0.39900	0.516000	0.22817	0.776000	0.33473	0.561000	0.74099	ACG		0.408	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		G	140798373	C	G	140798373	3	3	67	1	0	0	0	0	1	0	0	0	11570	536	19	4	949	4	PCDHGB7	5	140798373	Missense_Mutation	SNP	C	TCGA-A4-7732-01A-11D-2136-08	126410701	140798373	40116887	14	4648											
ARHGEF37	389337	hgsc.bcm.edu	37	5	149006787	149006787	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr5:149006787A>G	ENST00000333677.6	+	11	1776	c.1613A>G	c.(1612-1614)aAc>aGc	p.N538S		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	538	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						ATCCTTCAAAACAAGGACACC	0.597																																																0													82	94	90					5																	149006787		2091	4214	6305	SO:0001583	missense	389337			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1613A>G	chr5.hg19:g.149006787A>G	ENSP00000328083:p.Asn538Ser		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	hg19	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.553479	0.27739	.	.	ENSG00000183111	ENST00000333677	T	0.41065	1.01	5.11	3.94	0.45596	Src homology-3 domain (2);Variant SH3 (1);	0.646786	0.17386	N	0.176119	T	0.23965	0.0580	N	0.16478	0.41	0.28347	N	0.921071	B	0.23249	0.082	B	0.21151	0.033	T	0.19745	-1.0296	10	0.14656	T	0.56	.	8.9935	0.36039	0.8446:0.0:0.1554:0.0	.	538	A1IGU5	ARH37_HUMAN	S	538	ENSP00000328083:N538S	ENSP00000328083:N538S	N	+	2	0	ARHGEF37	148986980	0.615000	0.27026	1.000000	0.80357	0.932000	0.56968	3.659000	0.54489	0.785000	0.33685	-0.441000	0.05720	AAC		0.597	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		G	149006787	A	G	149006787	3	3	67	1	0	0	0	0	1	0	0	0	906	43	2	3	1651	3	ARHGEF37	5	149006787	Missense_Mutation	SNP	A	TCGA-A4-7732-01A-11D-2136-08	8208414	149006787	31908473	15	4649											
PRSS16	10279	hgsc.bcm.edu	37	6	27222771	27222771	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr6:27222771C>T	ENST00000230582.3	+	11	1352	c.1337C>T	c.(1336-1338)aCa>aTa	p.T446I	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Missense_Mutation_p.T189I	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	446					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCAGGGGACACAGACCCCTGG	0.547																																					NSCLC(178;1118 2105 17078 23587 44429)											0													123	127	126					6																	27222771		2203	4300	6503	SO:0001583	missense	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1337C>T	chr6.hg19:g.27222771C>T	ENSP00000230582:p.Thr446Ile		O75416	Missense_Mutation	SNP	ENST00000230582.3	hg19	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	C	0.210	-1.036976	0.02013	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.12039	2.72;2.72	4.64	-1.58	0.08479	.	0.476548	0.23981	N	0.042674	T	0.01222	0.0040	N	0.02011	-0.69	0.09310	N	1	B;B	0.15930	0.015;0.002	B;B	0.10450	0.005;0.001	T	0.46005	-0.9222	10	0.23302	T	0.38	0.0031	9.7619	0.40537	0.0:0.3092:0.0:0.6908	.	189;446	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	I	189;446	ENSP00000404349:T189I;ENSP00000230582:T446I	ENSP00000230582:T446I	T	+	2	0	PRSS16	27330750	0.007000	0.16637	0.571000	0.28486	0.927000	0.56198	-0.021000	0.12504	-0.193000	0.10415	-0.267000	0.10333	ACA		0.547	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			T	27222771	C	T	27222771	3	4	67	1	0	0	0	0	1	0	0	0	12621	478	17	2	1379	2	PRSS16	6	27222771	Missense_Mutation	SNP	C	TCGA-A4-7732-01A-11D-2136-08		27222771	143892296	16	4650											
HSPA1L	3305	hgsc.bcm.edu	37	6	31779708	31779708	+	Silent	SNP	G	G	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr6:31779708G>A	ENST00000375654.4	-	2	231	c.42C>T	c.(40-42)ggC>ggT	p.G14G	HSPA1L_ENST00000417199.3_Silent_p.G14G	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	14					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGTAGGTGGTGCCCAGGTCGA	0.557																																																0													71	60	64					6																	31779708		2203	4300	6503	SO:0001819	synonymous_variant	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.42C>T	chr6.hg19:g.31779708G>A			A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	hg19	CCDS34413.1																																																																																				0.557	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			A	31779708	G	A	31779708	2	1	67	1	0	0	0	0	0	0	0	1	7412	1306	46	2		2	HSPA1L	6	31779708	Silent	SNP	G	TCGA-A4-7732-01A-11D-2136-08	4556937	31779708	139335359	17	4651											
SLC26A5	375611	hgsc.bcm.edu	37	7	103029857	103029857	+	Silent	SNP	G	G	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr7:103029857G>A	ENST00000306312.3	-	13	1587	c.1326C>T	c.(1324-1326)gcC>gcT	p.A442A	SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Intron|SLC26A5_ENST00000393730.1_Intron|SLC26A5_ENST00000393729.1_Silent_p.A405A|SLC26A5_ENST00000432958.2_Intron|SLC26A5_ENST00000339444.6_Silent_p.A442A|SLC26A5_ENST00000393735.2_Silent_p.A442A|SLC26A5_ENST00000393727.1_Silent_p.A442A|SLC26A5_ENST00000356767.4_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	442					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAATCACAATGGCCGACAGCA	0.498																																																0													145	124	131					7																	103029857		2203	4300	6503	SO:0001819	synonymous_variant	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1326C>T	chr7.hg19:g.103029857G>A			Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	hg19	CCDS5733.1																																																																																				0.498	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		A	103029857	G	A	103029857	2	1	67	1	0	0	0	0	0	0	0	1	14526	1335	47	2		2	SLC26A5	7	103029857	Silent	SNP	G	TCGA-A4-7732-01A-11D-2136-08		103029857	56108806	18	4652											
MAPK15	225689	hgsc.bcm.edu	37	8	144801161	144801161	+	Splice_Site	SNP	A	A	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr8:144801161A>T	ENST00000338033.4	+	6	536		c.e6-1		RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395107.4_Splice_Site|MAPK15_ENST00000395108.2_Splice_Site	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15						MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCTCTCTGCAGCCGTCCAAT	0.711																																																0													21	19	20					8																	144801161		2202	4299	6501	SO:0001630	splice_region_variant	225689			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.418-1A>T	chr8.hg19:g.144801161A>T			Q2TCF9|Q8N362	Splice_Site	SNP	ENST00000338033.4	hg19	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	A	16.20	3.054752	0.55325	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	.	.	.	4.02	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9881	0.24739	0.8928:0.0:0.1072:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPK15	144873149	1.000000	0.71417	0.912000	0.35992	0.794000	0.44872	4.544000	0.60691	1.680000	0.50976	0.157000	0.16456	.		0.711	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021	Intron	T	144801161	A	T	144801161	5	4	67	1	0	0	0	0	0	0	1	0	9279	202	7	5	438	5	MAPK15	8	144801161	Splice_Site	SNP	A	TCGA-A4-7732-01A-11D-2136-08		144801161	1562861	19	4653											
SLC1A1	6505	hgsc.bcm.edu	37	9	4585458	4585458	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr9:4585458T>C	ENST00000262352.3	+	12	1711	c.1475T>C	c.(1474-1476)cTt>cCt	p.L492P		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	492					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	TCCACAATCCTTGACAACGAA	0.463																																																0													134	109	118					9																	4585458		2203	4300	6503	SO:0001583	missense	6505				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1475T>C	chr9.hg19:g.4585458T>C	ENSP00000262352:p.Leu492Pro		O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	hg19	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	T	3.609	-0.079875	0.07141	.	.	ENSG00000106688	ENST00000262352	T	0.57752	0.38	5.71	3.33	0.38152	.	0.566440	0.18485	N	0.139812	T	0.28200	0.0696	N	0.08118	0	0.21878	N	0.999492	B	0.12013	0.005	B	0.11329	0.006	T	0.14420	-1.0473	10	0.35671	T	0.21	.	5.5545	0.17109	0.1284:0.1394:0.0:0.7322	.	492	P43005	EAA3_HUMAN	P	492	ENSP00000262352:L492P	ENSP00000262352:L492P	L	+	2	0	SLC1A1	4575458	0.890000	0.30428	0.013000	0.15412	0.092000	0.18411	3.193000	0.50997	0.417000	0.25871	0.460000	0.39030	CTT		0.463	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			C	4585458	T	C	4585458	3	2	67	1	0	0	0	0	1	0	0	0	14437	1609	56	3	1521	3	SLC1A1	9	4585458	Missense_Mutation	SNP	T	TCGA-A4-7732-01A-11D-2136-08		4585458	136627973	20	4654											
APTX	54840	hgsc.bcm.edu	37	9	32988092	32988092	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr9:32988092T>A	ENST00000379819.1	-	3	210	c.211A>T	c.(211-213)Aag>Tag	p.K71*	APTX_ENST00000468275.1_Nonsense_Mutation_p.K57*|APTX_ENST00000379817.2_Nonsense_Mutation_p.K57*|APTX_ENST00000476858.1_Intron|APTX_ENST00000309615.3_Nonsense_Mutation_p.K71*|APTX_ENST00000379813.3_Nonsense_Mutation_p.K57*|APTX_ENST00000397172.3_Nonsense_Mutation_p.K71*|APTX_ENST00000436040.2_Nonsense_Mutation_p.K57*|APTX_ENST00000463596.1_Nonsense_Mutation_p.K57*|APTX_ENST00000379825.2_Nonsense_Mutation_p.K71*			Q7Z2E3	APTX_HUMAN	aprataxin	71	FHA-like.|Interactions with ADPRT and NCL.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TGCTTTACCTTGACATATCCC	0.388								Editing and processing nucleases																																								0													136	132	134					9																	32988092		2203	4300	6503	SO:0001587	stop_gained	54840			AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"ataxia 1, early onset with hypoalbuminemia"	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.211A>T	chr9.hg19:g.32988092T>A	ENSP00000369147:p.Lys71*		A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Nonsense_Mutation	SNP	ENST00000379819.1	hg19		.	.	.	.	.	.	.	.	.	.	T	36	5.750052	0.96890	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000397172;ENST00000379817;ENST00000436040;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000344355;ENST00000379813;ENST00000379812	.	.	.	5.16	5.16	0.70880	.	0.326514	0.35805	N	0.002978	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.792	12.9503	0.58397	0.0:0.0:0.0:1.0	.	.	.	.	X	71;71;71;57;57;71;57;57;71;57;71	.	ENSP00000311547:K71X	K	-	1	0	APTX	32978092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.233000	0.58651	1.957000	0.56846	0.455000	0.32223	AAG		0.388	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		A	32988092	T	A	32988092	4	1	67	1	0	0	0	0	0	1	0	0	820	1821	63	5	892	5	APTX	9	32988092	Nonsense_Mutation	SNP	T	TCGA-A4-7732-01A-11D-2136-08	28402634	32988092	108225339	21	4655											
PTCH1	5727	hgsc.bcm.edu	37	9	98268787	98268787	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr9:98268787C>T	ENST00000331920.6	-	2	595	c.296G>A	c.(295-297)gGc>gAc	p.G99D	PTCH1_ENST00000437951.1_Missense_Mutation_p.G33D|PTCH1_ENST00000430669.2_Missense_Mutation_p.G33D|PTCH1_ENST00000418258.1_5'UTR|RP11-435O5.5_ENST00000604104.1_RNA|PTCH1_ENST00000375274.2_Missense_Mutation_p.G98D|PTCH1_ENST00000429896.2_5'UTR|PTCH1_ENST00000421141.1_5'UTR|PTCH1_ENST00000468211.2_Missense_Mutation_p.G33D	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	99					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.C98fs*13(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAAGAACTTGCCGCAGTTTTT	0.537																																																1	Deletion - Frameshift(1)	skin(1)											67	69	68					9																	98268787		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.296G>A	chr9.hg19:g.98268787C>T	ENSP00000332353:p.Gly99Asp		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	hg19	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593802	0.86953	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000430669;ENST00000375274;ENST00000544247;ENST00000468211	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.94056	0.8095	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.93805	0.7104	10	0.40728	T	0.16	-11.9121	16.7843	0.85570	0.0:1.0:0.0:0.0	.	33;98;99	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	D	99;33;33;98;33;33	ENSP00000332353:G99D;ENSP00000389744:G33D;ENSP00000410287:G33D;ENSP00000364423:G98D;ENSP00000449745:G33D	ENSP00000332353:G99D	G	-	2	0	PTCH1	97308608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.168000	0.77570	2.033000	0.60031	0.561000	0.74099	GGC		0.537	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98268787	C	T	98268787	3	4	67	1	0	0	0	0	1	0	0	0	12735	739	26	2	4135	2	PTCH1	9	98268787	Missense_Mutation	SNP	C	TCGA-A4-7732-01A-11D-2136-08	65280695	98268787	42944644	22	4656											
ZMYND11	10771	hgsc.bcm.edu	37	10	287963	287963	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr10:287963A>G	ENST00000397962.3	+	10	1262	c.834A>G	c.(832-834)atA>atG	p.I278M	ZMYND11_ENST00000602682.1_Missense_Mutation_p.I193M|ZMYND11_ENST00000402736.1_Missense_Mutation_p.I247M|ZMYND11_ENST00000381604.4_Missense_Mutation_p.I238M|ZMYND11_ENST00000381602.4_Missense_Mutation_p.I238M|ZMYND11_ENST00000509513.2_Missense_Mutation_p.I277M|ZMYND11_ENST00000381607.4_Missense_Mutation_p.I184M|ZMYND11_ENST00000403354.1_Missense_Mutation_p.I198M|ZMYND11_ENST00000397959.3_Missense_Mutation_p.I193M|ZMYND11_ENST00000545619.1_Missense_Mutation_p.I158M|ZMYND11_ENST00000381584.1_Missense_Mutation_p.I261M|ZMYND11_ENST00000381591.1_Missense_Mutation_p.I278M|ZMYND11_ENST00000558098.2_Missense_Mutation_p.I278M|ZMYND11_ENST00000309776.4_Missense_Mutation_p.I238M|ZMYND11_ENST00000535374.1_Missense_Mutation_p.I73M			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	278					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATTTCCAGATACCTAATCATG	0.328																																																0													111	110	111					10																	287963		2203	4300	6503	SO:0001583	missense	10771			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.834A>G	chr10.hg19:g.287963A>G	ENSP00000381053:p.Ile278Met		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	hg19	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199641	0.58126	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	T;T;T;T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	6.17	5.03	0.67393	PWWP (2);	0.248837	0.46758	D	0.000271	T	0.59088	0.2168	N	0.08118	0	0.30416	N	0.778601	P;P;P;P;D;P;P;P;P;D	0.55800	0.918;0.921;0.727;0.727;0.973;0.832;0.918;0.882;0.927;0.973	P;P;P;P;P;P;P;B;B;P	0.49752	0.49;0.587;0.56;0.56;0.592;0.621;0.49;0.397;0.402;0.592	T	0.70839	-0.4763	9	0.46703	T	0.11	-28.5082	12.919	0.58222	0.8782:0.0:0.0:0.1218	.	238;278;193;223;278;198;207;224;224;247	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	M	278;238;238;278;193;278;198;184;247;238;261;158;73	ENSP00000381053:I278M;ENSP00000309992:I238M;ENSP00000371015:I238M;ENSP00000381050:I193M;ENSP00000371003:I278M;ENSP00000385484:I198M;ENSP00000371020:I184M;ENSP00000386010:I247M;ENSP00000371017:I238M;ENSP00000370996:I261M;ENSP00000438461:I158M;ENSP00000439587:I73M	ENSP00000309992:I238M	I	+	3	3	ZMYND11	277963	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.942000	0.40243	1.134000	0.42165	0.533000	0.62120	ATA		0.328	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		G	287963	A	G	287963	3	3	67	1	0	0	0	0	1	0	0	0	17711	381	14	3	868	3	ZMYND11	10	287963	Missense_Mutation	SNP	A	TCGA-A4-7732-01A-11D-2136-08		287963	135246784	23	4657											
PPRC1	23082	hgsc.bcm.edu	37	10	103900396	103900396	+	Missense_Mutation	SNP	G	G	A	rs17847386		TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr10:103900396G>A	ENST00000278070.2	+	5	2170	c.2131G>A	c.(2131-2133)Gtg>Atg	p.V711M	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.V711M	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	711					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCAGCTCCTCGTGGAGTCAGA	0.532																																																0													79	75	76					10																	103900396		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2131G>A	chr10.hg19:g.103900396G>A	ENSP00000278070:p.Val711Met		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	hg19	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	g	8.673	0.903227	0.17760	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.24151	1.88;1.87	3.89	-0.341	0.12639	.	0.355194	0.16037	N	0.232573	T	0.08670	0.0215	N	0.08118	0	0.09310	N	1	B;P;B	0.41345	0.191;0.746;0.191	B;B;B	0.31191	0.036;0.125;0.036	T	0.22765	-1.0207	10	0.46703	T	0.11	.	5.7647	0.18219	0.0:0.3035:0.4867:0.2099	rs17847386	711;591;711	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	M	711	ENSP00000278070:V711M;ENSP00000399743:V711M	ENSP00000278070:V711M	V	+	1	0	PPRC1	103890386	0.000000	0.05858	0.006000	0.13384	0.068000	0.16541	-0.952000	0.03881	-0.046000	0.13446	-1.200000	0.01667	GTG		0.532	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		A	103900396	G	A	103900396	3	1	67	1	0	0	0	0	1	0	0	0	12415	1145	40	1	2149	1	PPRC1	10	103900396	Missense_Mutation	SNP	G	TCGA-A4-7732-01A-11D-2136-08	103612433	103900396	31634351	24	4658											
SLC43A3	29015	hgsc.bcm.edu	37	11	57177469	57177469	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr11:57177469T>G	ENST00000395123.2	-	12	1490	c.1186A>C	c.(1186-1188)Atc>Ctc	p.I396L	SLC43A3_ENST00000352187.1_Missense_Mutation_p.I396L|SLC43A3_ENST00000395124.1_Missense_Mutation_p.I396L|SLC43A3_ENST00000533524.1_Missense_Mutation_p.I409L|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.I40L|SLC43A3_ENST00000529554.1_Missense_Mutation_p.I396L	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	396					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ACTTGCAGGATGAAGGTGAGG	0.632																																																0													93	72	79					11																	57177469		2201	4296	6497	SO:0001583	missense	29015			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1186A>C	chr11.hg19:g.57177469T>G	ENSP00000378555:p.Ile396Leu		B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	hg19	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711618	0.68730	.	.	ENSG00000254979;ENSG00000134802;ENSG00000134802;ENSG00000134802;ENSG00000134802;ENSG00000134802	ENST00000529411;ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	T;T;T;T;T;T	0.80123	-1.34;0.43;0.43;0.43;0.43;0.43	5.65	0.744	0.18353	Major facilitator superfamily domain, general substrate transporter (1);	0.373532	0.30235	N	0.010082	T	0.73218	0.3559	M	0.64997	1.995	0.35492	D	0.799026	B;B	0.22276	0.031;0.067	B;B	0.25614	0.062;0.062	T	0.64343	-0.6430	10	0.23891	T	0.37	-18.2579	8.0046	0.30317	0.0:0.353:0.0:0.647	.	409;396	E7EQD2;Q8NBI5	.;S43A3_HUMAN	L	40;396;396;396;396;409	ENSP00000431536:I40L;ENSP00000378555:I396L;ENSP00000378556:I396L;ENSP00000337561:I396L;ENSP00000436254:I396L;ENSP00000434515:I409L	ENSP00000431536:I40L	I	-	1	0	RP11-872D17.8;SLC43A3	56934045	0.962000	0.33011	0.995000	0.50966	0.953000	0.61014	-0.028000	0.12350	-0.110000	0.12022	0.533000	0.62120	ATC		0.632	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		G	57177469	T	G	57177469	3	3	67	1	0	0	0	0	1	0	0	0	14640	1464	51	5	301	5	SLC43A3	11	57177469	Missense_Mutation	SNP	T	TCGA-A4-7732-01A-11D-2136-08		57177469	77829047	25	4659											
USP28	57646	hgsc.bcm.edu	37	11	113705056	113705056	+	Splice_Site	SNP	G	G	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr11:113705056G>C	ENST00000003302.4	-	6	604	c.536C>G	c.(535-537)tCt>tGt	p.S179C	USP28_ENST00000545540.1_Splice_Site_p.S54C|USP28_ENST00000537706.1_Splice_Site_p.S179C|USP28_ENST00000260188.5_Splice_Site_p.S179C|USP28_ENST00000542033.1_5'UTR	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	179	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTGAAAGAGAGACTGAAATAA	0.313																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0													83	78	80					11																	113705056		2201	4296	6497	SO:0001630	splice_region_variant	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.535-1C>G	chr11.hg19:g.113705056G>C			B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	hg19	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470732	0.84533	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.08	5.08	0.68730	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	L	0.55743	1.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;0.997;0.999	T	0.55147	-0.8186	10	0.87932	D	0	-14.6997	17.4468	0.87580	0.0:0.0:1.0:0.0	.	179;54;179;179	B4E2Q2;B4E3L3;Q6NZX9;Q96RU2	.;.;.;UBP28_HUMAN	C	179;179;54;179	ENSP00000003302:S179C;ENSP00000260188:S179C;ENSP00000444991:S54C;ENSP00000445743:S179C	ENSP00000003302:S179C	S	-	2	0	USP28	113210266	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.444000	0.97578	2.357000	0.79964	0.460000	0.39030	TCT		0.313	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		Missense_Mutation	C	113705056	G	C	113705056	5	2	67	1	0	0	0	0	0	0	1	0	17063	956	33	4	2777	4	USP28	11	113705056	Splice_Site	SNP	G	TCGA-A4-7732-01A-11D-2136-08	56527587	113705056	21301460	26	4660											
DPAGT1	1798	hgsc.bcm.edu	37	11	118969112	118969112	+	Splice_Site	SNP	C	C	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr11:118969112C>T	ENST00000409993.2	-	7	2280		c.e7+1		DPAGT1_ENST00000432443.2_Splice_Site|DPAGT1_ENST00000445653.1_5'Flank|H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000354202.4_Splice_Site			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GGCCTACTTACCAGTTGTGGT	0.463																																																0													194	173	180					11																	118969112		2200	4295	6495	SO:0001630	splice_region_variant	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.728+1G>A	chr11.hg19:g.118969112C>T			O15216|Q86WV9|Q9BWE6	Splice_Site	SNP	ENST00000409993.2	hg19	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476893	0.84640	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2906	0.90129	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPAGT1	118474322	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.570000	0.82390	2.788000	0.95919	0.650000	0.86243	.		0.463	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382	Intron	T	118969112	C	T	118969112	5	4	67	1	0	0	0	0	0	0	1	0	4712	521	18	2	517	2	DPAGT1	11	118969112	Splice_Site	SNP	C	TCGA-A4-7732-01A-11D-2136-08	5264056	118969112	16037404	27	4661											
TFCP2	7024	hgsc.bcm.edu	37	12	51495806	51495806	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr12:51495806C>T	ENST00000257915.5	-	11	1521	c.1063G>A	c.(1063-1065)Gca>Aca	p.A355T	TFCP2_ENST00000548115.1_Missense_Mutation_p.A304T|TFCP2_ENST00000307660.4_Missense_Mutation_p.A304T|TFCP2_ENST00000549867.1_Intron	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	355	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AATAAATCTGCCCCTGGAATA	0.343																																																0													51	53	52					12																	51495806		2202	4300	6502	SO:0001583	missense	7024			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1063G>A	chr12.hg19:g.51495806C>T	ENSP00000257915:p.Ala355Thr		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	hg19	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089945	0.76756	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000548115;ENST00000548108	T;T;T;T	0.51325	2.11;0.71;0.74;2.09	5.19	4.31	0.51392	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	L	0.53729	1.69	0.58432	D	0.999995	D;B;B	0.67145	0.996;0.059;0.182	D;B;B	0.79784	0.993;0.059;0.177	T	0.61564	-0.7037	10	0.42905	T	0.14	-20.1909	12.9675	0.58492	0.0:0.9209:0.0:0.0791	.	304;355;355	Q12800-2;Q12800;Q12800-4	.;TFCP2_HUMAN;.	T	355;304;304;257	ENSP00000257915:A355T;ENSP00000304411:A304T;ENSP00000447991:A304T;ENSP00000449280:A257T	ENSP00000257915:A355T	A	-	1	0	TFCP2	49782073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.576000	0.60915	1.574000	0.49760	0.563000	0.77884	GCA		0.343	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		T	51495806	C	T	51495806	3	4	67	1	0	0	0	0	1	0	0	0	15800	739	26	2	465	2	TFCP2	12	51495806	Missense_Mutation	SNP	C	TCGA-A4-7732-01A-11D-2136-08		51495806	82356089	28	4662											
SLC39A5	283375	hgsc.bcm.edu	37	12	56626598	56626598	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr12:56626598A>G	ENST00000266980.4	+	3	706	c.413A>G	c.(412-414)gAc>gGc	p.D138G	SLC39A5_ENST00000454355.2_Missense_Mutation_p.D138G	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	138					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCGGGCCTGGACCTCCTTCAC	0.612																																																0													51	52	52					12																	56626598		2203	4300	6503	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.413A>G	chr12.hg19:g.56626598A>G	ENSP00000266980:p.Asp138Gly		B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	hg19	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334275	0.24253	.	.	ENSG00000139540	ENST00000419753;ENST00000454355;ENST00000436633;ENST00000266980	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.43	-4.08	0.03963	.	0.862131	0.10182	N	0.705702	T	0.15739	0.0379	N	0.25647	0.755	0.23473	N	0.997603	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.31668	-0.9935	9	.	.	.	-2.6848	13.1574	0.59524	0.4593:0.0:0.5407:0.0	.	138;29	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	G	138;138;109;138	ENSP00000402891:D138G;ENSP00000405360:D138G;ENSP00000391711:D109G;ENSP00000266980:D138G	.	D	+	2	0	SLC39A5	54912865	0.782000	0.28689	0.322000	0.25334	0.858000	0.48976	-0.215000	0.09279	-0.637000	0.05516	-0.269000	0.10298	GAC		0.612	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		G	56626598	A	G	56626598	3	3	67	1	0	0	0	0	1	0	0	0	14627	275	10	3	419	3	SLC39A5	12	56626598	Missense_Mutation	SNP	A	TCGA-A4-7732-01A-11D-2136-08	5130792	56626598	77225297	29	4663											
GLI1	2735	hgsc.bcm.edu	37	12	57864354	57864354	+	Missense_Mutation	SNP	C	C	T	rs368078339		TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr12:57864354C>T	ENST00000228682.2	+	12	1922	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	GLI1_ENST00000543426.1_Missense_Mutation_p.R483W|GLI1_ENST00000546141.1_Missense_Mutation_p.R570W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	611					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGCCTGGATCGGATAGGTGG	0.617																																					Pancreas(157;841 1936 10503 41495 50368)											0								C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405		0,1,2202	55	47	49		1447,1708,1831	3.9	1	12		49	0,8600		0,0,4300	no	missense,missense,missense	GLI1	NM_001160045.1,NM_001167609.1,NM_005269.2	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	483/979,570/1066,611/1107	57864354	1,13005	2203	4300	6503	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1831C>T	chr12.hg19:g.57864354C>T	ENSP00000228682:p.Arg611Trp		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	hg19	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547626	0.27652	2.27E-4	0.0	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.22336	2.12;1.96;2.06;2.06	3.86	3.86	0.44501	.	0.172694	0.28166	N	0.016347	T	0.21761	0.0524	M	0.64997	1.995	0.37842	D	0.929105	B	0.09022	0.002	B	0.04013	0.001	T	0.14839	-1.0458	10	0.87932	D	0	.	9.2479	0.37539	0.328:0.672:0.0:0.0	.	611	P08151	GLI1_HUMAN	W	483;611;570;570	ENSP00000437607:R483W;ENSP00000228682:R611W;ENSP00000441006:R570W;ENSP00000434408:R570W	ENSP00000228682:R611W	R	+	1	2	GLI1	56150621	0.021000	0.18746	0.995000	0.50966	0.883000	0.51084	0.653000	0.24902	2.436000	0.82500	0.491000	0.48974	CGG		0.617	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		T	57864354	C	T	57864354	3	4	67	1	0	0	0	0	1	0	0	0	6439	875	31	1	1873	1	GLI1	12	57864354	Missense_Mutation	SNP	C	TCGA-A4-7732-01A-11D-2136-08	1237756	57864354	75987541	30	4664											
NAA16	79612	hgsc.bcm.edu	37	13	41894809	41894809	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr13:41894809A>T	ENST00000379406.3	+	4	575	c.251A>T	c.(250-252)cAt>cTt	p.H84L	NAA16_ENST00000379367.3_Missense_Mutation_p.H84L|NAA16_ENST00000403412.3_Missense_Mutation_p.H84L	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	84					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ATAGGTTGGCATGTATATGGA	0.299																																																0													76	79	78					13																	41894809		2203	4300	6503	SO:0001583	missense	79612			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.251A>T	chr13.hg19:g.41894809A>T	ENSP00000368716:p.His84Leu		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	hg19	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530845	0.85706	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.58060	0.36;0.36;0.36	4.9	4.9	0.64082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000001	T	0.80265	0.4591	H	0.95816	3.725	0.80722	D	1	D;P;D	0.76494	0.999;0.754;0.985	D;P;D	0.85130	0.997;0.673;0.943	D	0.86393	0.1737	10	0.72032	D	0.01	-17.5873	14.6766	0.68983	1.0:0.0:0.0:0.0	.	84;84;84	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	L	84	ENSP00000368674:H84L;ENSP00000368716:H84L;ENSP00000386103:H84L	ENSP00000368674:H84L	H	+	2	0	NAA16	40792809	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.523000	0.90576	2.048000	0.60808	0.533000	0.62120	CAT		0.299	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		T	41894809	A	T	41894809	3	4	67	1	0	0	0	0	1	0	0	0	10121	217	8	5	265	5	NAA16	13	41894809	Missense_Mutation	SNP	A	TCGA-A4-7732-01A-11D-2136-08		41894809	73275069	31	4665											
MDGA2	161357	hgsc.bcm.edu	37	14	47351354	47351354	+	Missense_Mutation	SNP	G	G	T	rs369029916		TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr14:47351354G>T	ENST00000399232.2	-	11	2466	c.2102C>A	c.(2101-2103)aCa>aAa	p.T701K	MDGA2_ENST00000426342.1_Missense_Mutation_p.T472K|MDGA2_ENST00000357362.3_Missense_Mutation_p.T472K|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.T770K	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	701	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CAAGTTATATGTAATTAATTC	0.368																																																0													65	62	63					14																	47351354		1827	4086	5913	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2102C>A	chr14.hg19:g.47351354G>T	ENSP00000382178:p.Thr701Lys		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	hg19		.	.	.	.	.	.	.	.	.	.	G	15.69	2.907198	0.52333	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.1	5.1	0.69264	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.52532	U	0.000066	T	0.49098	0.1537	L	0.36672	1.1	0.80722	D	1	P;B	0.35139	0.486;0.227	B;B	0.38755	0.281;0.146	T	0.52388	-0.8582	10	0.54805	T	0.06	.	17.4396	0.87562	0.0:0.0:1.0:0.0	.	472;701	F6W3S7;Q7Z553	.;MDGA2_HUMAN	K	701;472;770;472	ENSP00000400011:T701K;ENSP00000405456:T472K;ENSP00000382178:T770K;ENSP00000349925:T472K	ENSP00000349925:T472K	T	-	2	0	MDGA2	46421104	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.258000	0.72487	2.547000	0.85894	0.467000	0.42956	ACA		0.368	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		T	47351354	G	T	47351354	3	4	67	1	0	0	0	0	1	0	0	0	9409	1377	48	4	796	4	MDGA2	14	47351354	Missense_Mutation	SNP	G	TCGA-A4-7732-01A-11D-2136-08		47351354	59998186	32	4666											
KCNK13	56659	hgsc.bcm.edu	37	14	90528673	90528673	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr14:90528673G>A	ENST00000282146.4	+	1	565	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	42					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTCCGCGCTGGAGCTGGCGCA	0.721																																																0													4	5	4					14																	90528673		1987	3967	5954	SO:0001583	missense	56659			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.124G>A	chr14.hg19:g.90528673G>A	ENSP00000282146:p.Glu42Lys		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	hg19	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521378	0.96416	.	.	ENSG00000152315	ENST00000282146	T	0.39787	1.06	4.0	4.0	0.46444	.	0.000000	0.32753	N	0.005686	T	0.71492	0.3346	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80843	-0.1201	10	0.87932	D	0	.	16.446	0.83932	0.0:0.0:1.0:0.0	.	42	Q9HB14	KCNKD_HUMAN	K	42	ENSP00000282146:E42K	ENSP00000282146:E42K	E	+	1	0	KCNK13	89598426	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.054000	0.93866	1.946000	0.56461	0.313000	0.20887	GAG		0.721	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		A	90528673	G	A	90528673	3	1	67	1	0	0	0	0	1	0	0	0	8063	1175	41	2	126	2	KCNK13	14	90528673	Missense_Mutation	SNP	G	TCGA-A4-7732-01A-11D-2136-08	43177319	90528673	16820867	33	4667											
RRN3	54700	hgsc.bcm.edu	37	16	15159184	15159184	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr16:15159184T>C	ENST00000198767.6	-	16	1681	c.1598A>G	c.(1597-1599)aAt>aGt	p.N533S	RRN3_ENST00000429751.2_Missense_Mutation_p.N503S|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.N500S|RRN3_ENST00000563559.1_Missense_Mutation_p.N533S|RRN3_ENST00000540462.1_Missense_Mutation_p.N351S	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	533	Interaction with TWISTNB.				cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CATCTGGCGATTGTTCCTCTC	0.502																																																0													95	80	85					16																	15159184		2197	4300	6497	SO:0001583	missense	54700			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"RRN3 RNA polymerase I transcription factor homolog (yeast)"			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1598A>G	chr16.hg19:g.15159184T>C	ENSP00000198767:p.Asn533Ser		A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	hg19	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	8.281	0.815443	0.16607	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.39	3.07	0.35406	.	0.056806	0.64402	D	0.000003	T	0.35038	0.0918	L	0.48642	1.525	0.47123	D	0.999324	B;B;B	0.17038	0.004;0.02;0.01	B;B;B	0.27500	0.009;0.08;0.022	T	0.07849	-1.0751	10	0.23891	T	0.37	.	9.8617	0.41118	0.0:0.127:0.0:0.873	.	503;434;533	F5H148;B4DZL9;Q9NYV6	.;.;RRN3_HUMAN	S	533;503;500;351	ENSP00000198767:N533S;ENSP00000402027:N503S;ENSP00000318484:N500S;ENSP00000437963:N351S	ENSP00000198767:N533S	N	-	2	0	RRN3	15066685	1.000000	0.71417	0.993000	0.49108	0.185000	0.23345	3.207000	0.51106	0.410000	0.25675	0.482000	0.46254	AAT		0.502	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		C	15159184	T	C	15159184	3	2	67	1	0	0	0	0	1	0	0	0	13690	1493	52	3	369	3	RRN3	16	15159184	Missense_Mutation	SNP	T	TCGA-A4-7732-01A-11D-2136-08		15159184	75195569	34	4668											
TMCO7	79613	hgsc.bcm.edu	37	16	68909060	68909060	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr16:68909060G>T	ENST00000261778.1	+	5	1010	c.998G>T	c.(997-999)gGa>gTa	p.G333V		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	333						integral component of membrane (GO:0016021)											GTGCCAGCGGGAGCAGCTGGT	0.473																																																0													78	88	85					16																	68909060		2134	4251	6385	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.998G>T	chr16.hg19:g.68909060G>T	ENSP00000261778:p.Gly333Val		Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	hg19	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713100	0.48517	.	.	ENSG00000103047	ENST00000261778	T	0.69175	-0.38	4.94	4.94	0.65067	.	.	.	.	.	T	0.81138	0.4760	M	0.77820	2.39	0.80722	D	1	D	0.69078	0.997	D	0.64687	0.928	D	0.83369	0.0006	9	0.59425	D	0.04	-8.1136	17.3079	0.87200	0.0:0.0:1.0:0.0	.	333	Q9C0B7	TMCO7_HUMAN	V	333	ENSP00000261778:G333V	ENSP00000261778:G333V	G	+	2	0	TMCO7	67466561	1.000000	0.71417	0.969000	0.41365	0.107000	0.19398	5.015000	0.64035	2.437000	0.82529	0.591000	0.81541	GGA		0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		T	68909060	G	T	68909060	3	4	67	1	0	0	0	0	1	0	0	0	16006	1174	41	4	1016	4	TMCO7	16	68909060	Missense_Mutation	SNP	G	TCGA-A4-7732-01A-11D-2136-08	53749876	68909060	21445693	35	4669											
KIAA0664	23277	hgsc.bcm.edu	37	17	2601454	2601454	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr17:2601454A>G	ENST00000570628.2	-	10	1688	c.1583T>C	c.(1582-1584)cTc>cCc	p.L528P	CLUH_ENST00000538975.1_Missense_Mutation_p.L528P|CLUH_ENST00000435359.1_Missense_Mutation_p.L528P			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	528					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CAGGATCTTGAGGGGCCGACT	0.647																																																0													37	48	44					17																	2601454		2169	4256	6425	SO:0001583	missense	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1583T>C	chr17.hg19:g.2601454A>G	ENSP00000458986:p.Leu528Pro		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	hg19	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819136	0.90873	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.87412	-2.25;-2.25	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96211	0.9153	10	0.87932	D	0	.	15.0034	0.71492	1.0:0.0:0.0:0.0	.	528;528	O75153;C9J6D7	K0664_HUMAN;.	P	528	ENSP00000388872:L528P;ENSP00000439628:L528P	ENSP00000320468:L528P	L	-	2	0	KIAA0664	2548204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.144000	0.66660	0.533000	0.62120	CTC		0.647	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		G	2601454	A	G	2601454	3	3	67	1	0	0	0	0	1	0	0	0	8191	304	11	3	2414	3	KIAA0664	17	2601454	Missense_Mutation	SNP	A	TCGA-A4-7732-01A-11D-2136-08		2601454	78593756	36	4670											
DNAH9	1770	hgsc.bcm.edu	37	17	11772554	11772554	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr17:11772554C>T	ENST00000262442.4	+	51	10105	c.10037C>T	c.(10036-10038)tCc>tTc	p.S3346F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S3346F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3346					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTCACCATCTCCCTTGCCAAC	0.498																																																0													93	83	87					17																	11772554		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10037C>T	chr17.hg19:g.11772554C>T	ENSP00000262442:p.Ser3346Phe		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091444	0.55968	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.75589	-0.95;-0.95	4.54	4.54	0.55810	Dynein heavy chain, coiled coil stalk (1);	0.361482	0.29246	N	0.012706	D	0.84238	0.5428	M	0.87682	2.9	0.80722	D	1	P	0.44195	0.828	P	0.52554	0.702	D	0.87047	0.2144	10	0.66056	D	0.02	.	15.0338	0.71728	0.0:0.8577:0.1423:0.0	.	3346	Q9NYC9	DYH9_HUMAN	F	3346;3346;1928	ENSP00000262442:S3346F;ENSP00000414874:S3346F	ENSP00000262442:S3346F	S	+	2	0	DNAH9	11713279	0.799000	0.28903	1.000000	0.80357	0.588000	0.36517	1.816000	0.38992	2.510000	0.84645	0.643000	0.83706	TCC		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11772554	C	T	11772554	3	4	67	1	0	0	0	0	1	0	0	0	4610	855	30	2	10239	2	DNAH9	17	11772554	Missense_Mutation	SNP	C	TCGA-A4-7732-01A-11D-2136-08	9171100	11772554	69422656	37	4671											
ZNF207	7756	hgsc.bcm.edu	37	17	30692444	30692444	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr17:30692444A>G	ENST00000321233.6	+	7	872	c.718A>G	c.(718-720)Aca>Gca	p.T240A	ZNF207_ENST00000394670.4_Missense_Mutation_p.T256A|ZNF207_ENST00000341711.6_Missense_Mutation_p.T157A|ZNF207_ENST00000342555.6_Missense_Mutation_p.T259A|ZNF207_ENST00000577908.1_Missense_Mutation_p.T256A|ZNF207_ENST00000394673.2_Missense_Mutation_p.T256A	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	240					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCTGCACCAACAGCAACTGT	0.502																																																0													70	60	63					17																	30692444		2203	4300	6503	SO:0001583	missense	7756			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.718A>G	chr17.hg19:g.30692444A>G	ENSP00000322777:p.Thr240Ala		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	hg19	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.611008	0.28712	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.41065	1.01;1.04	5.87	2.05	0.26809	.	0.483859	0.24044	N	0.042070	T	0.20495	0.0493	N	0.14661	0.345	0.24350	N	0.99493	B;B;B;B;B	0.16396	0.0;0.0;0.0;0.0;0.017	B;B;B;B;B	0.20767	0.0;0.0;0.0;0.0;0.031	T	0.25950	-1.0117	10	0.07644	T	0.81	.	8.3666	0.32391	0.6656:0.0:0.3344:0.0	.	240;259;256;256;240	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	A	256;240;259;256;157;240	ENSP00000378165:T256A;ENSP00000344913:T157A	ENSP00000322777:T256A	T	+	1	0	ZNF207	27716557	0.786000	0.28738	1.000000	0.80357	0.998000	0.95712	0.603000	0.24149	0.492000	0.27815	0.477000	0.44152	ACA		0.502	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			G	30692444	A	G	30692444	3	3	67	1	0	0	0	0	1	0	0	0	17770	43	2	3	796	3	ZNF207	17	30692444	Missense_Mutation	SNP	A	TCGA-A4-7732-01A-11D-2136-08	18919890	30692444	50502766	38	4672											
KRTAP4-5	85289	hgsc.bcm.edu	37	17	39305911	39305911	+	Missense_Mutation	SNP	G	G	A	rs557154279|rs141058010	byFrequency	TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr17:39305911G>A	ENST00000343246.4	-	1	143	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	37	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGGGCGGCAGCAGGTG	0.657																																																0													25	29	27					17																	39305911		2176	4272	6448	SO:0001583	missense	85289			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.109C>T	chr17.hg19:g.39305911G>A	ENSP00000340546:p.Arg37Cys			Missense_Mutation	SNP	ENST00000343246.4	hg19	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	12.13	1.844454	0.32606	.	.	ENSG00000198271	ENST00000343246	T	0.01455	4.87	3.22	-1.8	0.07907	.	2.080600	0.03668	U	0.243553	T	0.02767	0.0083	L	0.57536	1.79	0.18873	N	0.999989	B	0.18461	0.028	B	0.12837	0.008	T	0.47045	-0.9147	10	0.56958	D	0.05	.	5.7249	0.18008	0.1011:0.0:0.4232:0.4757	.	37	Q9BYR2	KRA45_HUMAN	C	37	ENSP00000340546:R37C	ENSP00000340546:R37C	R	-	1	0	KRTAP4-5	36559437	0.000000	0.05858	0.674000	0.29902	0.928000	0.56348	-0.202000	0.09451	-0.272000	0.09259	0.556000	0.70494	CGC		0.657	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			A	39305911	G	A	39305911	3	1	67	1	0	0	0	0	1	0	0	0	8556	1116	39	1	440	1	KRTAP4-5	17	39305911	Missense_Mutation	SNP	G	TCGA-A4-7732-01A-11D-2136-08	8613467	39305911	41889299	39	4673											
SLC16A5	9121	hgsc.bcm.edu	37	17	73096278	73096278	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr17:73096278G>T	ENST00000450736.2	+	4	935	c.520G>T	c.(520-522)Gtc>Ttc	p.V174F	SLC16A5_ENST00000538213.2_Missense_Mutation_p.V214F|SLC16A5_ENST00000580123.1_Missense_Mutation_p.V174F|SLC16A5_ENST00000329783.4_Missense_Mutation_p.V174F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	174					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TACCTTCCTTGTCTTCGGCGG	0.642																																																0													49	49	49					17																	73096278		2203	4300	6503	SO:0001583	missense	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.520G>T	chr17.hg19:g.73096278G>T	ENSP00000390564:p.Val174Phe		B4E288	Missense_Mutation	SNP	ENST00000450736.2	hg19	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	8.724	0.915027	0.17907	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.59772	0.24;0.24;0.24	4.58	-5.33	0.02713	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.457119	0.24674	N	0.036522	T	0.53899	0.1825	L	0.39692	1.235	0.21740	N	0.99956	D;D	0.56287	0.975;0.975	P;P	0.58391	0.791;0.838	T	0.55933	-0.8062	10	0.66056	D	0.02	.	8.4103	0.32640	0.444:0.112:0.444:0.0	.	214;174	B4E288;O15375	.;MOT6_HUMAN	F	174;174;214	ENSP00000330141:V174F;ENSP00000390564:V174F;ENSP00000440212:V214F	ENSP00000330141:V174F	V	+	1	0	SLC16A5	70607873	0.006000	0.16342	0.067000	0.19924	0.636000	0.38137	0.220000	0.17660	-1.012000	0.03387	0.561000	0.74099	GTC		0.642	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		T	73096278	G	T	73096278	3	4	67	1	0	0	0	0	1	0	0	0	14417	1377	48	4	530	4	SLC16A5	17	73096278	Missense_Mutation	SNP	G	TCGA-A4-7732-01A-11D-2136-08	33790367	73096278	8098932	40	4674											
ZNF439	90594	hgsc.bcm.edu	37	19	11978986	11978986	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr19:11978986T>C	ENST00000304030.2	+	3	1302	c.1102T>C	c.(1102-1104)Tca>Cca	p.S368P	ZNF439_ENST00000455282.1_Missense_Mutation_p.S232P|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TTCTGCCAAGTCATTTCAAAG	0.383																																																0													65	66	66					19																	11978986		2203	4300	6503	SO:0001583	missense	90594			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1102T>C	chr19.hg19:g.11978986T>C	ENSP00000305077:p.Ser368Pro		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	hg19	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	t	11.77	1.736704	0.30774	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.07908	3.15;3.15	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24392	0.0591	M	0.84082	2.675	0.09310	N	1	P	0.49961	0.93	P	0.62885	0.908	T	0.03863	-1.0997	9	0.54805	T	0.06	.	6.7827	0.23654	0.0:0.0:0.0:1.0	.	368	Q8NDP4	ZN439_HUMAN	P	232;368	ENSP00000395632:S232P;ENSP00000305077:S368P	ENSP00000305077:S368P	S	+	1	0	ZNF439	11839986	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-1.393000	0.02521	0.485000	0.27652	0.163000	0.16589	TCA		0.383	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			C	11978986	T	C	11978986	3	2	67	1	0	0	0	0	1	0	0	0	17916	1667	58	3	1112	3	ZNF439	19	11978986	Missense_Mutation	SNP	T	TCGA-A4-7732-01A-11D-2136-08		11978986	47149997	41	4675											
ZNF226	7769	hgsc.bcm.edu	37	19	44680650	44680650	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr19:44680650delT	ENST00000590089.1	+	7	1602	c.1235delT	c.(1234-1236)gttfs	p.V412fs	ZNF226_ENST00000337433.5_Frame_Shift_Del_p.V412fs|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.V412fs			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				CATCAAAGAGTTCATACAGGA	0.433																																					Pancreas(115;581 1665 13228 19278 50070)											0													62	66	65					19																	44680650		2197	4300	6497	SO:0001589	frameshift_variant	7769			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1235delT	chr19.hg19:g.44680650delT	ENSP00000465121:p.Val412fs		Q8WWE6|Q96TE6|Q9NS44	Frame_Shift_Del	DEL	ENST00000590089.1	hg19	CCDS46102.1																																																																																				0.433	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			-	44680650	T	-	44680650	7	5	67	1	0	1	0	1	0	0	0	0	17785	1725	60	0	1303	0	ZNF226	19	44680650	Frame_Shift_Del	DEL	T	TCGA-A4-7732-01A-11D-2136-08	32701664	44680650	14448333	42	4676											
KPTN	11133	hgsc.bcm.edu	37	19	47987312	47987312	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr19:47987312C>T	ENST00000338134.3	-	1	213	c.106G>A	c.(106-108)Ggc>Agc	p.G36S	NAPA-AS1_ENST00000594367.1_RNA|KPTN_ENST00000536339.1_5'UTR|NAPA-AS1_ENST00000593284.1_RNA|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	36					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		ccgcgcccgccggcgccgccT	0.697											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													16	20	19					19																	47987312		1778	3946	5724	SO:0001583	missense	11133			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"kaptin (actin-binding protein)"			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.106G>A	chr19.hg19:g.47987312C>T	ENSP00000337850:p.Gly36Ser	951	B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	hg19	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	C	5.953	0.359822	0.11296	.	.	ENSG00000118162	ENST00000338134	.	.	.	4.59	1.01	0.19927	.	0.822214	0.11218	N	0.586992	T	0.16041	0.0386	N	0.10874	0.06	0.22968	N	0.998498	B	0.12013	0.005	B	0.10450	0.005	T	0.30060	-0.9991	9	0.15952	T	0.53	-4.8928	5.1034	0.14772	0.0:0.5015:0.17:0.3285	.	36	Q9Y664	KPTN_HUMAN	S	36	.	ENSP00000337850:G36S	G	-	1	0	KPTN	52679124	0.103000	0.21917	0.979000	0.43373	0.439000	0.31926	1.690000	0.37711	0.509000	0.28195	0.313000	0.20887	GGC		0.697	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			T	47987312	C	T	47987312	3	4	67	1	0	0	0	0	1	0	0	0	8439	652	23	1	1252	1	KPTN	19	47987312	Missense_Mutation	SNP	C	TCGA-A4-7732-01A-11D-2136-08	3306662	47987312	11141671	43	4677											
MKKS	8195	hgsc.bcm.edu	37	20	10385928	10385928	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chr20:10385928C>A	ENST00000347364.3	-	6	2442	c.1680G>T	c.(1678-1680)ttG>ttT	p.L560F	MKKS_ENST00000399054.2_Missense_Mutation_p.L560F	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	560					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ATGAAAGATCCAAAATCAAAT	0.393																																					Melanoma(79;1979 2212 6640)											0													32	31	31					20																	10385928		2203	4300	6503	SO:0001583	missense	8195			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"Heat Shock Proteins / Chaperonins"	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.1680G>T	chr20.hg19:g.10385928C>A	ENSP00000246062:p.Leu560Phe		A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	hg19	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843811	0.71488	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	D;D	0.87966	-2.32;-2.32	6.07	2.82	0.32997	.	0.000000	0.64402	D	0.000001	D	0.91791	0.7403	M	0.77616	2.38	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.90008	0.4119	10	0.87932	D	0	-8.0737	8.1919	0.31374	0.0:0.6163:0.0:0.3837	.	560	Q9NPJ1	MKKS_HUMAN	F	560	ENSP00000246062:L560F;ENSP00000382008:L560F	ENSP00000246062:L560F	L	-	3	2	MKKS	10333928	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.884000	0.28214	0.279000	0.22186	0.655000	0.94253	TTG		0.393	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			A	10385928	C	A	10385928	3	1	67	1	0	0	0	0	1	0	0	0	9602	593	21	4	36	4	MKKS	20	10385928	Missense_Mutation	SNP	C	TCGA-A4-7732-01A-11D-2136-08		10385928	52639592	44	4678											
GYG2	8908	hgsc.bcm.edu	37	X	2772026	2772026	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chrX:2772026T>A	ENST00000381163.3	+	5	530	c.248T>A	c.(247-249)aTc>aAc	p.I83N	GYG2_ENST00000542787.1_Missense_Mutation_p.I83N|GYG2-AS1_ENST00000445107.1_RNA|GYG2_ENST00000338623.5_Missense_Mutation_p.I83N|GYG2_ENST00000398806.3_Missense_Mutation_p.I52N|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	83					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCAGGGTCATCCTCTCGAAG	0.507																																																0													126	99	108					X																	2772026		2203	4298	6501	SO:0001583	missense	8908			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4700	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.248T>A	chrX.hg19:g.2772026T>A	ENSP00000370555:p.Ile83Asn		B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	hg19	CCDS14121.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584140	0.28268	.	.	ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787;ENST00000520904	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	3.59	2.41	0.29592	.	0.614533	0.14619	N	0.308517	T	0.37999	0.1024	L	0.39898	1.24	0.25836	N	0.984116	P;D;P;B;P	0.54964	0.731;0.969;0.847;0.378;0.489	P;P;P;B;P	0.49887	0.477;0.558;0.625;0.3;0.522	T	0.12016	-1.0564	10	0.41790	T	0.15	.	6.5	0.22164	0.0:0.2109:0.0:0.7891	.	83;43;52;52;83	O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.;.;.;.;GLYG2_HUMAN	N	52;83;83;83;52	ENSP00000381786:I52N;ENSP00000370555:I83N;ENSP00000341273:I83N;ENSP00000446092:I83N;ENSP00000430764:I52N	ENSP00000341273:I83N	I	+	2	0	GYG2	2782026	0.959000	0.32827	0.051000	0.19133	0.019000	0.09904	1.290000	0.33319	1.271000	0.44313	0.481000	0.45027	ATC		0.507	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		A	2772026	T	A	2772026	3	1	67	1	0	0	0	0	1	0	0	0	6908	1435	50	5	262	5	GYG2	23	2772026	Missense_Mutation	SNP	T	TCGA-A4-7732-01A-11D-2136-08		2772026	152498534	45	4679											
SYP	6855	hgsc.bcm.edu	37	X	49050637	49050638	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chrX:49050637_49050638delTG	ENST00000263233.4	-	4	480_481	c.408_409delCA	c.(406-411)aacaaafs	p.N136fs	SYP_ENST00000479808.1_Frame_Shift_Del_p.N136fs|SYP_ENST00000538567.1_Frame_Shift_Del_p.N18fs	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	136	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				ATGGGCCCTTTGTTATTCTCTC	0.564																																																0																																										SO:0001589	frameshift_variant	6855			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.408_409delCA	chrX.hg19:g.49050637_49050638delTG	ENSP00000263233:p.Asn136fs		B2R7L6|B7Z359|Q6P2F7	Frame_Shift_Del	DEL	ENST00000263233.4	hg19	CCDS14321.1																																																																																				0.564	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		-	49050638	TG	-	49050637	7	5	67	1	0	1	0	1	0	0	0	0	15466	1821	63	0	544	0	SYP	23	49050637	Frame_Shift_Del	DEL	TG	TCGA-A4-7732-01A-11D-2136-08	46278611	49050637	106219923	46	4680											
PHKA1	5255	hgsc.bcm.edu	37	X	71829514	71829514	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7732-01A-11D-2136-08	TCGA-A4-7732-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3f779f68-566c-4996-8aab-4ca7af95061c	b7fc117a-dadb-4f07-8dce-04bf472d7559	g.chrX:71829514C>T	ENST00000373542.4	-	23	2725	c.2566G>A	c.(2566-2568)Gta>Ata	p.V856I	PHKA1_ENST00000541944.1_Missense_Mutation_p.V797I|PHKA1_ENST00000373545.3_Missense_Mutation_p.V797I|PHKA1_ENST00000339490.3_Missense_Mutation_p.V856I|PHKA1_ENST00000373539.3_Missense_Mutation_p.V856I	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	856					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGAAGTCCTACTGTCAAATGT	0.453																																																0													226	193	204					X																	71829514		2203	4300	6503	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2566G>A	chrX.hg19:g.71829514C>T	ENSP00000362643:p.Val856Ile		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	hg19	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271260	0.80469	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.65	5.65	0.86999	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95172	0.8435	M	0.84082	2.675	0.54753	D	0.999987	B;B;B	0.33637	0.118;0.389;0.42	B;P;B	0.48627	0.21;0.584;0.421	D	0.94813	0.7980	10	0.52906	T	0.07	-4.9016	15.893	0.79315	0.0:1.0:0.0:0.0	.	797;856;856	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	I	797;856;797;856;856	ENSP00000362646:V797I;ENSP00000362643:V856I;ENSP00000441251:V797I;ENSP00000342469:V856I;ENSP00000362640:V856I	ENSP00000342469:V856I	V	-	1	0	PHKA1	71746239	0.999000	0.42202	0.998000	0.56505	0.964000	0.63967	4.396000	0.59684	2.353000	0.79882	0.544000	0.68410	GTA		0.453	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			T	71829514	C	T	71829514	3	4	67	1	0	0	0	0	1	0	0	0	11845	565	20	2	1145	2	PHKA1	23	71829514	Missense_Mutation	SNP	C	TCGA-A4-7732-01A-11D-2136-08	22778877	71829514	83441046	47	4681											
ZNF644	84146	hgsc.bcm.edu	37	1	91406116	91406116	+	Silent	SNP	G	G	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr1:91406116G>A	ENST00000370440.1	-	3	1012	c.795C>T	c.(793-795)ttC>ttT	p.F265F	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Silent_p.F265F|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAAATTGAATGAACTCTTTTT	0.353																																																0													106	105	105					1																	91406116		2202	4300	6502	SO:0001819	synonymous_variant	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.795C>T	chr1.hg19:g.91406116G>A			A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	hg19	CCDS731.1																																																																																				0.353	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		A	91406116	G	A	91406116	2	1	68	1	0	0	0	0	0	0	0	1	18065	1281	45	2		2	ZNF644	1	91406116	Silent	SNP	G	TCGA-A4-7734-01A-11D-2136-08		91406116	157844505	1	4682											
KCND3	3752	hgsc.bcm.edu	37	1	112524716	112524716	+	Silent	SNP	C	C	T	rs35131566	byFrequency	TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr1:112524716C>T	ENST00000315987.2	-	2	1112	c.633G>A	c.(631-633)ccG>ccA	p.P211P	KCND3_ENST00000302127.4_Silent_p.P211P|KCND3_ENST00000369697.1_Silent_p.P211P	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	211					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCTTGCTGCCCGGGACCGTGC	0.647																																																0													27	28	28					1																	112524716		2203	4300	6503	SO:0001819	synonymous_variant	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.633G>A	chr1.hg19:g.112524716C>T			O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	hg19	CCDS843.1																																																																																				0.647	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		T	112524716	C	T	112524716	2	4	68	1	0	0	0	0	0	0	0	1	8022	639	23	1		1	KCND3	1	112524716	Silent	SNP	C	TCGA-A4-7734-01A-11D-2136-08	21118600	112524716	136725905	2	4683											
YY1AP1	55249	hgsc.bcm.edu	37	1	155638446	155638446	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr1:155638446A>T	ENST00000295566.4	-	9	1012	c.989T>A	c.(988-990)aTg>aAg	p.M330K	YY1AP1_ENST00000405763.3_Missense_Mutation_p.M422K|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000476093.1_5'Flank|YY1AP1_ENST00000368340.5_Missense_Mutation_p.M402K|YY1AP1_ENST00000359205.5_Missense_Mutation_p.M273K|YY1AP1_ENST00000535662.1_Missense_Mutation_p.M130K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.M422K|YY1AP1_ENST00000347088.5_Missense_Mutation_p.M284K|YY1AP1_ENST00000368330.2_Missense_Mutation_p.M284K|YY1AP1_ENST00000407221.1_Missense_Mutation_p.M253K|YY1AP1_ENST00000355499.4_Missense_Mutation_p.M284K|YY1AP1_ENST00000311573.5_Missense_Mutation_p.M253K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.M273K|YY1AP1_ENST00000404643.1_Missense_Mutation_p.M264K	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	330					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGCTCTGTTCATGTTGAGGTT	0.433																																																0													307	257	274					1																	155638446		2203	4300	6503	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.989T>A	chr1.hg19:g.155638446A>T	ENSP00000295566:p.Met330Lys		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	hg19	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419504	0.42918	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662;ENST00000405763	T;T;T;T;T;T;T;T;T;T;T;T	0.24151	1.9;1.9;1.92;1.9;1.9;1.9;1.91;1.9;1.92;1.93;1.87;1.93	3.4	-0.935	0.10423	.	0.476592	0.21278	N	0.077194	T	0.07999	0.0200	L	0.53249	1.67	0.80722	D	1	B;B;B;B;B;P;B	0.40211	0.12;0.103;0.169;0.297;0.034;0.707;0.088	B;B;B;B;B;B;B	0.36845	0.098;0.025;0.079;0.175;0.017;0.234;0.046	T	0.14671	-1.0464	10	0.32370	T	0.25	.	4.6279	0.12488	0.6197:0.0:0.0911:0.2892	.	350;422;264;422;330;284;402	B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	K	273;284;253;284;273;402;330;284;253;264;422;130;422	ENSP00000352134:M273K;ENSP00000347686:M284K;ENSP00000311138:M253K;ENSP00000316079:M284K;ENSP00000355298:M273K;ENSP00000357324:M402K;ENSP00000295566:M330K;ENSP00000357314:M284K;ENSP00000385791:M253K;ENSP00000385390:M264K;ENSP00000357323:M422K;ENSP00000437926:M130K	ENSP00000295566:M330K	M	-	2	0	YY1AP1	153905070	0.275000	0.24201	0.971000	0.41717	0.982000	0.71751	0.942000	0.29017	0.038000	0.15604	0.379000	0.24179	ATG		0.433	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		T	155638446	A	T	155638446	3	4	68	1	0	0	0	0	1	0	0	0	17513	217	8	5	1413	5	YY1AP1	1	155638446	Missense_Mutation	SNP	A	TCGA-A4-7734-01A-11D-2136-08	43113730	155638446	93612175	3	4684											
APOB	338	hgsc.bcm.edu	37	2	21251317	21251317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr2:21251317G>A	ENST00000233242.1	-	13	1838	c.1711C>T	c.(1711-1713)Cag>Tag	p.Q571*	APOB_ENST00000399256.4_Nonsense_Mutation_p.Q571*	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	571	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATATCTGCCTGTGAAGGACTC	0.438																																																0													131	133	132					2																	21251317		2203	4300	6503	SO:0001587	stop_gained	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1711C>T	chr2.hg19:g.21251317G>A	ENSP00000233242:p.Gln571*		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	37	6.513092	0.97629	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	.	.	.	5.69	3.47	0.39725	.	0.330090	0.28688	N	0.014472	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	5.0861	0.14682	0.0975:0.133:0.632:0.1375	.	.	.	.	X	571	.	ENSP00000233242:Q571X	Q	-	1	0	APOB	21104822	0.134000	0.22483	0.496000	0.27539	0.194000	0.23727	0.571000	0.23669	0.602000	0.29896	0.655000	0.94253	CAG		0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21251317	G	A	21251317	4	1	68	1	0	0	0	0	0	1	0	0	785	1386	48	2	12048	2	APOB	2	21251317	Nonsense_Mutation	SNP	G	TCGA-A4-7734-01A-11D-2136-08		21251317	221948056	4	4685											
ITGA6	3655	hgsc.bcm.edu	37	2	173352903	173352903	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr2:173352903C>A	ENST00000264106.6	+	20	2772	c.2569C>A	c.(2569-2571)Caa>Aaa	p.Q857K	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Missense_Mutation_p.Q818K|ITGA6_ENST00000409532.1_Missense_Mutation_p.Q699K|ITGA6_ENST00000343713.4_Missense_Mutation_p.Q813K|ITGA6_ENST00000409080.1_Missense_Mutation_p.Q818K|ITGA6_ENST00000375221.2_Missense_Mutation_p.Q857K			P23229	ITA6_HUMAN	integrin, alpha 6	857					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGTTGGCGAGCAAGCTATGAA	0.368																																																0													152	153	153					2																	173352903		2203	4300	6503	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2569C>A	chr2.hg19:g.173352903C>A	ENSP00000264106:p.Gln857Lys		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	hg19		.	.	.	.	.	.	.	.	.	.	C	14.43	2.532122	0.45073	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.76	3.78	0.43462	.	0.192038	0.56097	D	0.000033	T	0.33904	0.0879	N	0.22421	0.69	0.31631	N	0.648993	B;B;B;B	0.16802	0.007;0.008;0.019;0.019	B;B;B;B	0.19666	0.015;0.026;0.026;0.016	T	0.36065	-0.9763	10	0.42905	T	0.14	.	12.9758	0.58537	0.3451:0.6549:0.0:0.0	.	813;857;818;818	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	K	699;818;857;857;813;818;857;813;43	ENSP00000386614:Q699K;ENSP00000264107:Q818K;ENSP00000264106:Q857K;ENSP00000364369:Q857K;ENSP00000341078:Q813K;ENSP00000386896:Q818K;ENSP00000406694:Q857K;ENSP00000394169:Q813K;ENSP00000388435:Q43K	ENSP00000264106:Q857K	Q	+	1	0	ITGA6	173061149	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.932000	0.63476	2.725000	0.93324	0.585000	0.79938	CAA		0.368	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				A	173352903	C	A	173352903	3	1	68	1	0	0	0	0	1	0	0	0	7882	711	25	4	2526	4	ITGA6	2	173352903	Missense_Mutation	SNP	C	TCGA-A4-7734-01A-11D-2136-08	152101586	173352903	69846470	5	4686											
ZNF385B	151126	hgsc.bcm.edu	37	2	180310448	180310448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr2:180310448delT	ENST00000410066.1	-	8	1527	c.924delA	c.(922-924)aaafs	p.K308fs	ZNF385B_ENST00000409343.1_Frame_Shift_Del_p.K232fs|ZNF385B_ENST00000336917.5_Frame_Shift_Del_p.K206fs|ZNF385B_ENST00000409692.1_Frame_Shift_Del_p.K206fs|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	308	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TGGTCTTGTGTTTAGATCCTA	0.388																																					Colon(155;204 2491 32774 51842)											0													103	95	98					2																	180310448		2203	4300	6503	SO:0001589	frameshift_variant	151126			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.924delA	chr2.hg19:g.180310448delT	ENSP00000386845:p.Lys308fs		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Frame_Shift_Del	DEL	ENST00000410066.1	hg19	CCDS33339.1																																																																																				0.388	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		-	180310448	T	-	180310448	7	5	68	1	0	1	0	1	0	0	0	0	17882	1722	60	0	503	0	ZNF385B	2	180310448	Frame_Shift_Del	DEL	T	TCGA-A4-7734-01A-11D-2136-08	6957545	180310448	62888925	6	4687											
NEK10	152110	hgsc.bcm.edu	37	3	27297798	27297798	+	Silent	SNP	G	G	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr3:27297798G>A	ENST00000429845.2	-	24	2441	c.2079C>T	c.(2077-2079)atC>atT	p.I693I	NEK10_ENST00000357467.2_Silent_p.I90I|NEK10_ENST00000341435.5_Silent_p.I693I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	693	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGAATACAGGATTGTTCCAA	0.343																																																0													122	116	118					3																	27297798		2201	4300	6501	SO:0001819	synonymous_variant	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2079C>T	chr3.hg19:g.27297798G>A			A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	ENST00000429845.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.197|9.197	1.027478|1.027478	0.19512|0.19512	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000424275	.|.	.|.	.|.	4.96|4.96	1.54|1.54	0.23209|0.23209	.|.	.|.	.|.	.|.	.|.	T|T	0.51873|0.51873	0.1700|0.1700	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41233|0.41233	-0.9520|-0.9520	4|4	.|.	.|.	.|.	.|.	5.416|5.416	0.16374|0.16374	0.5096:0.0:0.4904:0.0|0.5096:0.0:0.4904:0.0	.|.	.|.	.|.	.|.	S|F	150|180	.|.	.|.	P|S	-|-	1|2	0|0	NEK10|NEK10	27272802|27272802	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	1.244000|1.244000	0.32778|0.32778	0.568000|0.568000	0.29311|0.29311	0.591000|0.591000	0.81541|0.81541	CCT|TCC		0.343	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		A	27297798	G	A	27297798	2	1	68	1	0	0	0	0	0	0	0	1	10324	1164	41	2		2	NEK10	3	27297798	Silent	SNP	G	TCGA-A4-7734-01A-11D-2136-08		27297798	170724632	7	4688											
KBTBD5	131377	hgsc.bcm.edu	37	3	42727131	42727131	+	Silent	SNP	G	G	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr3:42727131G>A	ENST00000287777.4	+	1	121	c.21G>A	c.(19-21)caG>caA	p.Q7Q		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	7					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											GCTTGGAGCAGGCGGAGGAGC	0.647																																																0													29	23	25					3																	42727131		2198	4298	6496	SO:0001819	synonymous_variant	131377			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.21G>A	chr3.hg19:g.42727131G>A			Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	hg19	CCDS2703.1																																																																																				0.647	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		A	42727131	G	A	42727131	2	1	68	1	0	0	0	0	0	0	0	1	7998	991	35	2		2	KBTBD5	3	42727131	Silent	SNP	G	TCGA-A4-7734-01A-11D-2136-08	15429333	42727131	155295299	8	4689											
HERC5	51191	hgsc.bcm.edu	37	4	89410409	89410409	+	Silent	SNP	C	C	G	rs141289100	byFrequency	TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr4:89410409C>G	ENST00000264350.3	+	16	2208	c.2055C>G	c.(2053-2055)gtC>gtG	p.V685V	HERC5_ENST00000508159.1_Silent_p.V323V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	685					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATCTAACAGTCAGAAGGAATC	0.383																																					Esophageal Squamous(39;887 1012 34045 50514)											0													177	183	181					4																	89410409		2203	4300	6503	SO:0001819	synonymous_variant	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2055C>G	chr4.hg19:g.89410409C>G			B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	hg19	CCDS3630.1																																																																																				0.383	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		G	89410409	C	G	89410409	2	3	68	1	0	0	0	0	0	0	0	1	7063	813	29	4		4	HERC5	4	89410409	Silent	SNP	C	TCGA-A4-7734-01A-11D-2136-08		89410409	101743867	9	4690											
FAT4	79633	hgsc.bcm.edu	37	4	126411930	126411930	+	Silent	SNP	C	C	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr4:126411930C>A	ENST00000394329.3	+	17	13966	c.13953C>A	c.(13951-13953)atC>atA	p.I4651I	FAT4_ENST00000335110.5_Silent_p.I2892I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4651					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTTTCAATCCAGAGGCACA	0.502																																																0													75	70	72					4																	126411930		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13953C>A	chr4.hg19:g.126411930C>A			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	hg19	CCDS3732.3																																																																																				0.502	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126411930	C	A	126411930	2	1	68	1	0	0	0	0	0	0	0	1	5694	845	30	4		4	FAT4	4	126411930	Silent	SNP	C	TCGA-A4-7734-01A-11D-2136-08	37001521	126411930	64742346	10	4691											
NSUN2	54888	hgsc.bcm.edu	37	5	6620336	6620336	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr5:6620336C>T	ENST00000264670.6	-	7	1009	c.698G>A	c.(697-699)aGc>aAc	p.S233N	NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.S198N|NSUN2_ENST00000505264.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	233					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GATGCAGGGGCTGCTCAGCCT	0.502																																																0													99	99	99					5																	6620336		2203	4300	6503	SO:0001583	missense	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.698G>A	chr5.hg19:g.6620336C>T	ENSP00000264670:p.Ser233Asn		A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	hg19	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	36	5.656410	0.96724	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.41065	1.01;1.04	6.02	6.02	0.97574	.	0.070917	0.85682	D	0.000000	T	0.67813	0.2933	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66571	-0.5890	10	0.56958	D	0.05	-41.3851	20.5407	0.99260	0.0:1.0:0.0:0.0	.	198;233	B4DQW2;Q08J23	.;NSUN2_HUMAN	N	233;198	ENSP00000264670:S233N;ENSP00000420957:S198N	ENSP00000264670:S233N	S	-	2	0	NSUN2	6673336	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	7.366000	0.79548	2.865000	0.98341	0.655000	0.94253	AGC		0.502	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		T	6620336	C	T	6620336	3	4	68	1	0	0	0	0	1	0	0	0	10680	797	28	2	1657	2	NSUN2	5	6620336	Missense_Mutation	SNP	C	TCGA-A4-7734-01A-11D-2136-08		6620336	174294924	11	4692											
FCHO2	115548	hgsc.bcm.edu	37	5	72378596	72378596	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr5:72378596A>C	ENST00000430046.2	+	24	2305	c.2189A>C	c.(2188-2190)gAa>gCa	p.E730A	FCHO2_ENST00000341845.6_Missense_Mutation_p.E730A|FCHO2_ENST00000512348.1_Missense_Mutation_p.E697A	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	730	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AGGAATGCAGAACAAATGAAA	0.308																																																0													67	66	66					5																	72378596		1810	4076	5886	SO:0001583	missense	115548			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.2189A>C	chr5.hg19:g.72378596A>C	ENSP00000393776:p.Glu730Ala		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	hg19	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.309909	0.60414	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.54071	0.59;0.59;0.59	5.31	5.31	0.75309	Muniscin C-terminal mu homology domain (1);	0.172570	0.49305	D	0.000142	T	0.49081	0.1536	L	0.52364	1.645	0.58432	D	0.999996	B;B	0.10296	0.003;0.003	B;B	0.21151	0.01;0.033	T	0.43572	-0.9383	10	0.40728	T	0.16	-23.3471	14.6045	0.68466	1.0:0.0:0.0:0.0	.	697;730	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	A	730;730;697	ENSP00000393776:E730A;ENSP00000344034:E730A;ENSP00000427296:E697A	ENSP00000344034:E730A	E	+	2	0	FCHO2	72414352	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.460000	0.90369	2.231000	0.72958	0.533000	0.62120	GAA		0.308	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		C	72378596	A	C	72378596	3	2	68	1	0	0	0	0	1	0	0	0	5790	246	9	5	2283	5	FCHO2	5	72378596	Missense_Mutation	SNP	A	TCGA-A4-7734-01A-11D-2136-08	65758260	72378596	108536664	12	4693											
SLC12A2	6558	hgsc.bcm.edu	37	5	127419881	127419881	+	Missense_Mutation	SNP	A	A	C	rs557916029		TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr5:127419881A>C	ENST00000262461.2	+	1	424	c.235A>C	c.(235-237)Agc>Cgc	p.S79R	SLC12A2_ENST00000343225.4_Missense_Mutation_p.S79R|CTC-228N24.3_ENST00000501702.2_lincRNA	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	79					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CCCGAGCCAGAGCCGTTTCCA	0.816													A|||	1	0.000199681	0.0	0.0	5008	,	,		6545	0.0		0.001	False		,,,				2504	0.0															0													1	2	1					5																	127419881		861	2057	2918	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.235A>C	chr5.hg19:g.127419881A>C	ENSP00000262461:p.Ser79Arg		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	hg19	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.467578	0.84533	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.86865	-2.16;-2.18	4.11	2.95	0.34219	.	0.128217	0.50627	D	0.000110	D	0.89280	0.6670	L	0.47190	1.495	0.58432	D	0.99999	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	D	0.88787	0.3275	10	0.72032	D	0.01	.	8.7601	0.34669	0.9077:0.0:0.0923:0.0	.	79;79	P55011-3;P55011	.;S12A2_HUMAN	R	79	ENSP00000262461:S79R;ENSP00000340878:S79R	ENSP00000262461:S79R	S	+	1	0	SLC12A2	127447780	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.501000	0.60393	1.474000	0.48178	0.260000	0.18958	AGC		0.816	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		C	127419881	A	C	127419881	3	2	68	1	0	0	0	0	1	0	0	0	14389	304	11	5	237	5	SLC12A2	5	127419881	Missense_Mutation	SNP	A	TCGA-A4-7734-01A-11D-2136-08	55041285	127419881	53495379	13	4694											
CAMK2A	815	hgsc.bcm.edu	37	5	149644564	149644564	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr5:149644564C>G	ENST00000348628.6	-	3	837	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	CAMK2A_ENST00000398376.3_Missense_Mutation_p.E58Q	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCACGCTCCAGCTTCTGA	0.607																																																0													44	49	47					5																	149644564		2002	4186	6188	SO:0001583	missense	815			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.172G>C	chr5.hg19:g.149644564C>G	ENSP00000261793:p.Glu58Gln		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	hg19	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	c	17.93	3.509651	0.64522	.	.	ENSG00000070808	ENST00000348628;ENST00000398376;ENST00000510347	T;T;T	0.24538	1.85;1.85;1.85	4.6	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067804	0.64402	U	0.000020	T	0.28863	0.0716	N	0.21448	0.665	0.58432	D	0.999997	B;B	0.29552	0.248;0.248	B;P	0.45099	0.307;0.469	T	0.27905	-1.0060	10	0.87932	D	0	.	13.2562	0.60081	0.0:1.0:0.0:0.0	.	58;58	Q9UQM7;A8K161	KCC2A_HUMAN;.	Q	58	ENSP00000261793:E58Q;ENSP00000381412:E58Q;ENSP00000426607:E58Q	ENSP00000261793:E58Q	E	-	1	0	CAMK2A	149624757	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.110000	0.71535	2.281000	0.76405	0.306000	0.20318	GAG		0.607	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		G	149644564	C	G	149644564	3	3	68	1	0	0	0	0	1	0	0	0	2601	864	30	4	1365	4	CAMK2A	5	149644564	Missense_Mutation	SNP	C	TCGA-A4-7734-01A-11D-2136-08	22224683	149644564	31270696	14	4695											
KIF13A	63971	hgsc.bcm.edu	37	6	17796913	17796913	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr6:17796913T>G	ENST00000259711.6	-	23	3034	c.2929A>C	c.(2929-2931)Aca>Cca	p.T977P	KIF13A_ENST00000378843.2_Missense_Mutation_p.T977P|KIF13A_ENST00000378814.5_Missense_Mutation_p.T977P|KIF13A_ENST00000378816.5_Missense_Mutation_p.T977P|KIF13A_ENST00000378826.2_Missense_Mutation_p.T977P	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	977					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCATGCAGTGTTCTTGTCTTA	0.507																																																0													149	142	144					6																	17796913		1924	4131	6055	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2929A>C	chr6.hg19:g.17796913T>G	ENSP00000259711:p.Thr977Pro		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	hg19	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.513415|4.513415	0.85389|0.85389	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|T;T;T;T;T	.|0.72505	.|-0.62;-0.66;-0.62;-0.63;-0.62	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75939|0.75939	0.3918|0.3918	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.997;0.999;0.994;0.999	.|D;D;D;D	.|0.71184	.|0.947;0.962;0.922;0.972	T|T	0.79892|0.79892	-0.1611|-0.1611	5|10	.|0.87932	.|D	.|0	.|.	15.0983|15.0983	0.72253|0.72253	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|977;977;977;977	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	D|P	370|977;977;977;977;977;37	.|ENSP00000368091:T977P;ENSP00000259711:T977P;ENSP00000368103:T977P;ENSP00000368120:T977P;ENSP00000368093:T977P	.|ENSP00000259711:T977P	E|T	-|-	3|1	2|0	KIF13A|KIF13A	17904892|17904892	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.984000|0.984000	0.73092|0.73092	5.938000|5.938000	0.70170|0.70170	2.019000|2.019000	0.59389|0.59389	0.460000|0.460000	0.39030|0.39030	GAA|ACA		0.507	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			G	17796913	T	G	17796913	3	3	68	1	0	0	0	0	1	0	0	0	8276	1725	60	5	2581	5	KIF13A	6	17796913	Missense_Mutation	SNP	T	TCGA-A4-7734-01A-11D-2136-08		17796913	153318154	15	4696											
DST	667	hgsc.bcm.edu	37	6	56463337	56463337	+	Silent	SNP	T	T	C			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr6:56463337T>C	ENST00000361203.3	-	42	11239	c.11232A>G	c.(11230-11232)gcA>gcG	p.A3744A	DST_ENST00000312431.6_Silent_p.A3744A|DST_ENST00000421834.2_Silent_p.A1658A|DST_ENST00000244364.6_Silent_p.A1332A|DST_ENST00000370788.2_Silent_p.A1658A|DST_ENST00000370769.4_Silent_p.A3746A|DST_ENST00000370754.5_Silent_p.A3924A|DST_ENST00000446842.2_Silent_p.A3420A			Q03001	DYST_HUMAN	dystonin	3744					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGACTGTTCTGCTTTTAAAT	0.353																																																0													159	143	148					6																	56463337		1845	4078	5923	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11232A>G	chr6.hg19:g.56463337T>C			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	hg19																																																																																					0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		C	56463337	T	C	56463337	2	2	68	1	0	0	0	0	0	0	0	1	4785	1567	55	3		3	DST	6	56463337	Silent	SNP	T	TCGA-A4-7734-01A-11D-2136-08	38666424	56463337	114651730	16	4697											
TYW1	55253	hgsc.bcm.edu	37	7	66514966	66514966	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr7:66514966G>T	ENST00000359626.5	+	8	1179	c.1015G>T	c.(1015-1017)Ggt>Tgt	p.G339C		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	339					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGAGAAGTCTGGTTTGTTCAG	0.383																																																0													45	47	47					7																	66514966		2203	4298	6501	SO:0001583	missense	55253			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1015G>T	chr7.hg19:g.66514966G>T	ENSP00000352645:p.Gly339Cys		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	hg19	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	6.950	0.545036	0.13312	.	.	ENSG00000198874	ENST00000359626	T	0.17854	2.25	3.59	-7.17	0.01511	.	1.038170	0.07760	U	0.949947	T	0.14700	0.0355	L	0.39898	1.24	0.09310	N	1	P	0.39376	0.67	B	0.42112	0.376	T	0.31336	-0.9947	10	0.72032	D	0.01	.	9.461	0.38785	0.2223:0.1477:0.6299:0.0	.	339	Q9NV66	TYW1_HUMAN	C	339	ENSP00000352645:G339C	ENSP00000352645:G339C	G	+	1	0	TYW1	66152401	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.640000	0.00865	-1.521000	0.01771	-1.012000	0.02466	GGT		0.383	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		T	66514966	G	T	66514966	3	4	68	1	0	0	0	0	1	0	0	0	16823	1348	47	4	1045	4	TYW1	7	66514966	Missense_Mutation	SNP	G	TCGA-A4-7734-01A-11D-2136-08		66514966	92623697	17	4698											
MET	4233	hgsc.bcm.edu	37	7	116423433	116423433	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr7:116423433T>A	ENST00000318493.6	+	19	3949	c.3762T>A	c.(3760-3762)agT>agA	p.S1254R	MET_ENST00000397752.3_Missense_Mutation_p.S1236R|MET_ENST00000539704.1_Missense_Mutation_p.S106R			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AATACTATAGTGTACACAACA	0.383			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													99	95	96					7																	116423433		1861	4097	5958	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3762T>A	chr7.hg19:g.116423433T>A	ENSP00000317272:p.Ser1254Arg		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.189759	0.38707	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.34072	1.38;1.38;1.38	5.46	-2.57	0.06248	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	N	0.03304	-0.355	0.54753	D	0.999982	P;D	0.89917	0.924;1.0	P;D	0.85130	0.574;0.997	T	0.26326	-1.0106	10	0.87932	D	0	.	11.8823	0.52581	0.0:0.4505:0.0:0.5495	.	1254;1236	P08581-2;P08581	.;MET_HUMAN	R	1236;1254;106	ENSP00000380860:S1236R;ENSP00000317272:S1254R;ENSP00000445020:S106R	ENSP00000317272:S1254R	S	+	3	2	MET	116210669	0.936000	0.31750	0.978000	0.43139	0.978000	0.69477	0.045000	0.14013	-0.366000	0.08064	0.460000	0.39030	AGT		0.383	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116423433	T	A	116423433	3	1	68	1	0	0	0	0	1	0	0	0	9487	1693	59	5	3832	5	MET	7	116423433	Missense_Mutation	SNP	T	TCGA-A4-7734-01A-11D-2136-08	49908467	116423433	42715230	18	4699											
SPAM1	6677	hgsc.bcm.edu	37	7	123599995	123599995	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr7:123599995T>A	ENST00000439500.1	+	6	2115	c.1502T>A	c.(1501-1503)cTt>cAt	p.L501H	SPAM1_ENST00000460182.1_Missense_Mutation_p.L501H|SPAM1_ENST00000340011.5_Intron|SPAM1_ENST00000402183.2_Missense_Mutation_p.L501H|SPAM1_ENST00000223028.7_Missense_Mutation_p.L501H	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	501					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATTTTGTTTCTTATCATTTCT	0.353																																																0													87	83	84					7																	123599995		2203	4300	6503	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1502T>A	chr7.hg19:g.123599995T>A	ENSP00000402123:p.Leu501His		Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	hg19	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	T	9.524	1.109145	0.20714	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000439500;ENST00000223028	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	2.06	2.06	0.26882	.	.	.	.	.	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	P	0.49862	0.929	B	0.30316	0.114	T	0.22836	-1.0205	9	0.72032	D	0.01	.	6.1126	0.20110	0.0:0.0:0.0:1.0	.	501	P38567	HYALP_HUMAN	H	501	ENSP00000386028:L501H;ENSP00000417934:L501H;ENSP00000402123:L501H;ENSP00000223028:L501H	ENSP00000223028:L501H	L	+	2	0	SPAM1	123387231	0.016000	0.18221	0.004000	0.12327	0.009000	0.06853	2.479000	0.45197	1.210000	0.43336	0.528000	0.53228	CTT		0.353	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123599995	T	A	123599995	3	1	68	1	0	0	0	0	1	0	0	0	14992	1609	56	5	1512	5	SPAM1	7	123599995	Missense_Mutation	SNP	T	TCGA-A4-7734-01A-11D-2136-08	7176562	123599995	35538668	19	4700											
PKHD1L1	93035	hgsc.bcm.edu	37	8	110420393	110420393	+	Silent	SNP	G	G	C			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr8:110420393G>C	ENST00000378402.5	+	18	2033	c.1929G>C	c.(1927-1929)ggG>ggC	p.G643G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	643					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGGGATGGGATCGCTTCTA	0.428										HNSCC(38;0.096)																																						0													121	121	121					8																	110420393		1946	4145	6091	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1929G>C	chr8.hg19:g.110420393G>C			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	hg19	CCDS47911.1																																																																																				0.428	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110420393	G	C	110420393	2	2	68	1	0	0	0	0	0	0	0	1	11974	1161	41	4		4	PKHD1L1	8	110420393	Silent	SNP	G	TCGA-A4-7734-01A-11D-2136-08		110420393	35943629	20	4701											
VPS28	51160	hgsc.bcm.edu	37	8	145651588	145651588	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr8:145651588G>T	ENST00000526054.1	-	2	78	c.41C>A	c.(40-42)cCt>cAt	p.P14H	VPS28_ENST00000377348.2_Missense_Mutation_p.P14H|VPS28_ENST00000292510.4_Missense_Mutation_p.P14H|VPS28_ENST00000526734.1_5'UTR|VPS28_ENST00000529182.1_Missense_Mutation_p.P14H			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	14	VPS28 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00645}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTTGTTCCCAGGGGCTGCAAG	0.632																																																0													20	19	20					8																	145651588		2194	4296	6490	SO:0001583	missense	51160			AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"vacuolar protein sorting 28 (yeast)"				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.41C>A	chr8.hg19:g.145651588G>T	ENSP00000434064:p.Pro14His		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	hg19	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	g	19.57	3.851936	0.71719	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806;ENST00000531032;ENST00000530790	.	.	.	5.09	5.09	0.68999	Vacuolar protein sorting-associated, VPS28, N-terminal (1);	0.051939	0.85682	D	0.000000	T	0.52948	0.1766	N	0.08118	0	0.51482	D	0.999924	D;D	0.76494	0.999;0.986	D;P	0.66979	0.948;0.575	T	0.63120	-0.6708	9	0.62326	D	0.03	.	16.3554	0.83234	0.0:0.0:1.0:0.0	.	14;14	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	H	14	.	ENSP00000292510:P14H	P	-	2	0	VPS28	145622396	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.858000	0.69532	2.515000	0.84797	0.650000	0.86243	CCT		0.632	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			T	145651588	G	T	145651588	3	4	68	1	0	0	0	0	1	0	0	0	17204	1000	35	4	770	4	VPS28	8	145651588	Missense_Mutation	SNP	G	TCGA-A4-7734-01A-11D-2136-08	35231195	145651588	712434	21	4702											
KIAA1797	54914	hgsc.bcm.edu	37	9	20990148	20990148	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr9:20990148T>A	ENST00000380249.1	+	44	5395	c.5031T>A	c.(5029-5031)ttT>ttA	p.F1677L	FOCAD_ENST00000338382.6_Missense_Mutation_p.F1677L|FOCAD_ENST00000605086.1_Missense_Mutation_p.F1113L	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1677						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TGCTGATATTTGCAACCGCAG	0.488																																																0													89	79	82					9																	20990148		2203	4300	6503	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.5031T>A	chr9.hg19:g.20990148T>A	ENSP00000369599:p.Phe1677Leu		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	hg19	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022456	0.54683	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.22945	1.93;1.93	6.06	3.75	0.43078	.	0.052794	0.85682	D	0.000000	T	0.27489	0.0675	L	0.57536	1.79	0.54753	D	0.999988	P	0.42296	0.775	B	0.42738	0.396	T	0.01574	-1.1321	10	0.33141	T	0.24	-19.4576	10.2953	0.43620	0.0:0.1318:0.0:0.8682	.	1677	Q5VW36	K1797_HUMAN	L	1677	ENSP00000369599:F1677L;ENSP00000344307:F1677L	ENSP00000344307:F1677L	F	+	3	2	KIAA1797	20980148	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	1.862000	0.39448	0.543000	0.28864	0.533000	0.62120	TTT		0.488	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		A	20990148	T	A	20990148	3	1	68	1	0	0	0	0	1	0	0	0	8260	1809	63	5	5193	5	KIAA1797	9	20990148	Missense_Mutation	SNP	T	TCGA-A4-7734-01A-11D-2136-08		20990148	120223283	22	4703											
SMC5	23137	hgsc.bcm.edu	37	9	72913102	72913102	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr9:72913102G>C	ENST00000361138.5	+	9	1332	c.1274G>C	c.(1273-1275)cGa>cCa	p.R425P		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	425					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ATTGATAAGCGAAGAGAGAGG	0.358																																																0													90	86	87					9																	72913102		2203	4300	6503	SO:0001583	missense	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1274G>C	chr9.hg19:g.72913102G>C	ENSP00000354957:p.Arg425Pro		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	hg19	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524798	0.44969	.	.	ENSG00000198887	ENST00000361138	T	0.19669	2.13	5.72	-2.63	0.06133	RecF/RecN/SMC (1);	0.559219	0.18103	N	0.151640	T	0.17109	0.0411	L	0.46157	1.445	0.09310	N	1	P	0.48694	0.914	P	0.48840	0.592	T	0.11446	-1.0587	10	0.32370	T	0.25	-0.2642	2.2335	0.04002	0.3745:0.0877:0.3454:0.1924	.	425	Q8IY18	SMC5_HUMAN	P	425	ENSP00000354957:R425P	ENSP00000354957:R425P	R	+	2	0	SMC5	72102922	0.591000	0.26824	0.162000	0.22713	0.993000	0.82548	0.529000	0.23019	-0.132000	0.11557	0.591000	0.81541	CGA		0.358	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		C	72913102	G	C	72913102	3	2	68	1	0	0	0	0	1	0	0	0	14792	1058	37	4	1308	4	SMC5	9	72913102	Missense_Mutation	SNP	G	TCGA-A4-7734-01A-11D-2136-08	51922954	72913102	68300329	23	4704											
VPS13A	23230	hgsc.bcm.edu	37	9	79981712	79981712	+	Missense_Mutation	SNP	A	A	C	rs566242673		TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr9:79981712A>C	ENST00000360280.3	+	61	8655	c.8395A>C	c.(8395-8397)Att>Ctt	p.I2799L	VPS13A_ENST00000357409.5_Missense_Mutation_p.I2799L|VPS13A_ENST00000376634.4_Missense_Mutation_p.I2799L|VPS13A_ENST00000376636.3_Missense_Mutation_p.I2760L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2799					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAGGACTGATTCCAGTTCA	0.313																																																0													66	69	68					9																	79981712		2203	4299	6502	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8395A>C	chr9.hg19:g.79981712A>C	ENSP00000353422:p.Ile2799Leu		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.457324	0.43634	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.56	0.396	0.16309	.	0.303860	0.34178	N	0.004187	T	0.64757	0.2627	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.14438	0.001;0.002;0.01;0.004	B;B;B;B	0.15870	0.007;0.006;0.014;0.014	T	0.47005	-0.9150	9	.	.	.	.	3.193	0.06624	0.643:0.1183:0.1256:0.1131	.	2760;2799;2799;2799	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	2799;2760;2799;2799	ENSP00000365821:I2799L;ENSP00000365823:I2760L;ENSP00000353422:I2799L;ENSP00000349985:I2799L	.	I	+	1	0	VPS13A	79171532	1.000000	0.71417	0.083000	0.20561	0.958000	0.62258	3.532000	0.53553	-0.167000	0.10871	-0.376000	0.06991	ATT		0.313	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		C	79981712	A	C	79981712	3	2	68	1	0	0	0	0	1	0	0	0	17194	333	12	5	8637	5	VPS13A	9	79981712	Missense_Mutation	SNP	A	TCGA-A4-7734-01A-11D-2136-08	7068610	79981712	61231719	24	4705											
PDCL	5082	hgsc.bcm.edu	37	9	125582792	125582792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr9:125582792G>A	ENST00000259467.4	-	4	643	c.478C>T	c.(478-480)Cag>Tag	p.Q160*		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	160					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TCAAAAACCTGCTTGAATTGG	0.443																																																0													104	102	102					9																	125582792		2203	4300	6503	SO:0001587	stop_gained	5082			AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.478C>T	chr9.hg19:g.125582792G>A	ENSP00000259467:p.Gln160*		Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Nonsense_Mutation	SNP	ENST00000259467.4	hg19	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440900	0.83993	.	.	ENSG00000136940	ENST00000259467	.	.	.	5.58	4.67	0.58626	.	0.160604	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.79	12.8162	0.57667	0.0:0.0:0.7031:0.2969	.	.	.	.	X	160	.	ENSP00000259467:Q160X	Q	-	1	0	PDCL	124622613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.527000	0.45615	1.349000	0.45751	0.655000	0.94253	CAG		0.443	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		A	125582792	G	A	125582792	4	1	68	1	0	0	0	0	0	1	0	0	11628	1328	46	2	431	2	PDCL	9	125582792	Nonsense_Mutation	SNP	G	TCGA-A4-7734-01A-11D-2136-08	45601080	125582792	15630639	25	4706											
SLC2A8	29988	hgsc.bcm.edu	37	9	130167105	130167105	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr9:130167105A>G	ENST00000373371.3	+	8	1074	c.985A>G	c.(985-987)Atg>Gtg	p.M329V	SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373360.3_Missense_Mutation_p.M329V|SLC2A8_ENST00000373352.1_Missense_Mutation_p.M66V	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	329					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						AGGTGTGGTCATGGTGTTCAG	0.697																																																0													50	45	47					9																	130167105		2203	4297	6500	SO:0001583	missense	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.985A>G	chr9.hg19:g.130167105A>G	ENSP00000362469:p.Met329Val		Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	hg19	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.122981	0.56613	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000373360;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.071263	0.85682	D	0.000000	D	0.86585	0.5968	M	0.71036	2.16	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.80764	0.994;0.992	D	0.87560	0.2471	10	0.56958	D	0.05	.	14.2805	0.66208	1.0:0.0:0.0:0.0	.	329;329	Q5VVV9;Q9NY64	.;GTR8_HUMAN	V	329;166;66;329;168;194;194;168	ENSP00000362469:M329V;ENSP00000392434:M166V;ENSP00000362450:M66V;ENSP00000362458:M329V;ENSP00000404893:M168V;ENSP00000389070:M194V;ENSP00000391213:M168V	ENSP00000362448:M194V	M	+	1	0	SLC2A8	129206926	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	6.771000	0.74996	2.073000	0.62155	0.533000	0.62120	ATG		0.697	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		G	130167105	A	G	130167105	3	3	68	1	0	0	0	0	1	0	0	0	14557	217	8	3	1015	3	SLC2A8	9	130167105	Missense_Mutation	SNP	A	TCGA-A4-7734-01A-11D-2136-08	4584313	130167105	11046326	26	4707											
ARID5B	84159	hgsc.bcm.edu	37	10	63852307	63852307	+	Silent	SNP	C	C	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr10:63852307C>A	ENST00000279873.7	+	10	3495	c.3085C>A	c.(3085-3087)Cgg>Agg	p.R1029R	ARID5B_ENST00000309334.5_Silent_p.R786R	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1029					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.R1029W(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GAAAAAGGCCCGGGCAGTGTC	0.597																																																1	Substitution - Missense(1)	large_intestine(1)											62	70	67					10																	63852307		2203	4300	6503	SO:0001819	synonymous_variant	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3085C>A	chr10.hg19:g.63852307C>A			B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	hg19	CCDS31208.1																																																																																				0.597	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		A	63852307	C	A	63852307	2	1	68	1	0	0	0	0	0	0	0	1	922	643	23	4		4	ARID5B	10	63852307	Silent	SNP	C	TCGA-A4-7734-01A-11D-2136-08		63852307	71682440	27	4708											
PTPRJ	5795	hgsc.bcm.edu	37	11	48181586	48181586	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr11:48181586T>A	ENST00000418331.2	+	22	3895	c.3543T>A	c.(3541-3543)gaT>gaA	p.D1181E		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1181	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCATCAGAGATTTCACAGTGA	0.393																																																0													109	99	102					11																	48181586		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3543T>A	chr11.hg19:g.48181586T>A	ENSP00000400010:p.Asp1181Glu		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	hg19	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277957	0.80692	.	.	ENSG00000149177	ENST00000418331	D	0.82526	-1.62	5.53	4.46	0.54185	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.	.	.	.	T	0.59542	0.2201	N	0.02658	-0.545	0.80722	D	1	P	0.41131	0.739	B	0.44133	0.442	T	0.59537	-0.7436	9	0.07813	T	0.8	.	4.5662	0.12187	0.0:0.3223:0.0:0.6777	.	1181	Q12913	PTPRJ_HUMAN	E	1181	ENSP00000400010:D1181E	ENSP00000400010:D1181E	D	+	3	2	PTPRJ	48138162	0.990000	0.36364	1.000000	0.80357	0.994000	0.84299	0.202000	0.17295	1.076000	0.40961	0.529000	0.55759	GAT		0.393	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			A	48181586	T	A	48181586	3	1	68	1	0	0	0	0	1	0	0	0	12810	1490	52	5	3638	5	PTPRJ	11	48181586	Missense_Mutation	SNP	T	TCGA-A4-7734-01A-11D-2136-08		48181586	86824930	28	4709											
CAPN1	823	hgsc.bcm.edu	37	11	64974118	64974118	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr11:64974118T>G	ENST00000527323.1	+	12	1778	c.1538T>G	c.(1537-1539)tTc>tGc	p.F513C	CAPN1_ENST00000533129.1_Missense_Mutation_p.F513C|CAPN1_ENST00000524773.1_Missense_Mutation_p.F513C|CAPN1_ENST00000533820.1_Missense_Mutation_p.F513C|CAPN1_ENST00000279247.6_Missense_Mutation_p.F513C			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	513	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GTGCTGCGCTTCTTCTCAGAG	0.652																																																0													30	34	33					11																	64974118		2089	4209	6298	SO:0001583	missense	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1538T>G	chr11.hg19:g.64974118T>G	ENSP00000431984:p.Phe513Cys		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	hg19	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227125	0.79576	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.06	5.06	0.68205	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.209169	0.43416	D	0.000576	D	0.88171	0.6365	L	0.33753	1.03	0.46774	D	0.999196	P	0.48350	0.909	P	0.59115	0.852	D	0.89382	0.3682	10	0.87932	D	0	.	12.7595	0.57356	0.0:0.0:0.0:1.0	.	513	P07384	CAN1_HUMAN	C	513;513;513;513;459;513	ENSP00000435272:F513C;ENSP00000431686:F513C;ENSP00000434176:F513C;ENSP00000279247:F513C;ENSP00000431984:F513C	ENSP00000259755:F459C	F	+	2	0	CAPN1	64730694	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.950000	0.87804	1.897000	0.54924	0.379000	0.24179	TTC		0.652	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			G	64974118	T	G	64974118	3	3	68	1	0	0	0	0	1	0	0	0	2624	1783	62	5	1584	5	CAPN1	11	64974118	Missense_Mutation	SNP	T	TCGA-A4-7734-01A-11D-2136-08	16792532	64974118	70032398	29	4710											
RNF26	79102	hgsc.bcm.edu	37	11	119206410	119206410	+	Missense_Mutation	SNP	G	G	A	rs200033048		TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr11:119206410G>A	ENST00000311413.4	+	1	1174	c.578G>A	c.(577-579)aGc>aAc	p.S193N	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	193						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CACATTTCCAGCAGTGCTGTG	0.622																																																0								G	ASN/SER	0,4398		0,0,2199	115	95	102		578	5.1	1	11		102	1,8589	1.2+/-3.3	0,1,4294	no	missense	RNF26	NM_032015.3	46	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	193/434	119206410	1,12987	2199	4295	6494	SO:0001583	missense	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.578G>A	chr11.hg19:g.119206410G>A	ENSP00000312439:p.Ser193Asn		Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	hg19	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192453	0.58017	0.0	1.16E-4	ENSG00000173456	ENST00000311413	T	0.79653	-1.29	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	L	0.32530	0.975	0.47659	D	0.999484	D	0.53312	0.959	P	0.46940	0.532	T	0.71024	-0.4712	10	0.26408	T	0.33	-16.3913	11.0828	0.48070	0.0844:0.0:0.9156:0.0	.	193	Q9BY78	RNF26_HUMAN	N	193	ENSP00000312439:S193N	ENSP00000312439:S193N	S	+	2	0	RNF26	118711620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.210000	0.65214	2.393000	0.81446	0.561000	0.74099	AGC		0.622	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		A	119206410	G	A	119206410	3	1	68	1	0	0	0	0	1	0	0	0	13492	971	34	2	580	2	RNF26	11	119206410	Missense_Mutation	SNP	G	TCGA-A4-7734-01A-11D-2136-08	54232292	119206410	15800106	30	4711											
H2AFJ	55766	hgsc.bcm.edu	37	12	14927594	14927594	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr12:14927594C>G	ENST00000544848.1	+	1	325	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	64						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						GGCGGAGATCCTGGAGCTGGC	0.632																																																0													49	56	54					12																	14927594		2203	4300	6503	SO:0001583	missense	55766			AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"Histones / Replication-independent"	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.190C>G	chr12.hg19:g.14927594C>G	ENSP00000438553:p.Leu64Val		Q9NV63	Missense_Mutation	SNP	ENST00000544848.1	hg19	CCDS31752.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387309	0.42308	.	.	ENSG00000246705	ENST00000544848;ENST00000228929	T;T	0.72282	-0.64;-0.64	4.67	3.78	0.43462	Histone-fold (2);Histone core (1);Histone H2A (2);	.	.	.	.	T	0.81489	0.4833	H	0.97158	3.95	0.45139	D	0.998151	B	0.22800	0.075	B	0.30251	0.113	D	0.84014	0.0350	9	0.87932	D	0	.	13.3675	0.60694	0.0:0.8405:0.1594:0.0	.	64	Q9BTM1	H2AJ_HUMAN	V	64	ENSP00000438553:L64V;ENSP00000228929:L64V	ENSP00000228929:L64V	L	+	1	2	H2AFJ	14818861	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.833000	0.55790	1.571000	0.49722	-0.156000	0.13503	CTG		0.632	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400845.1	NM_177925		G	14927594	C	G	14927594	3	3	68	1	0	0	0	0	1	0	0	0	6928	680	24	4	192	4	H2AFJ	12	14927594	Missense_Mutation	SNP	C	TCGA-A4-7734-01A-11D-2136-08		14927594	118924301	31	4712											
CPM	1368	hgsc.bcm.edu	37	12	69326479	69326479	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr12:69326479T>A	ENST00000551568.1	-	2	199	c.139A>T	c.(139-141)Agt>Tgt	p.S47C	CPM_ENST00000338356.3_Missense_Mutation_p.S47C|CPM_ENST00000546373.1_Missense_Mutation_p.S47C	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	47					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTCCCAATACTGTGTAAGTGA	0.473																																																0													117	109	112					12																	69326479		2203	4300	6503	SO:0001583	missense	1368			AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.139A>T	chr12.hg19:g.69326479T>A	ENSP00000448517:p.Ser47Cys		B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	hg19	CCDS8987.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981836	0.53827	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954;ENST00000548262;ENST00000549781	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;3.2	4.24	4.24	0.50183	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	H	0.94183	3.505	0.58432	D	0.999997	B	0.28324	0.207	B	0.34418	0.182	T	0.18650	-1.0330	9	.	.	.	-17.8592	11.2744	0.49157	0.0:0.0:0.0:1.0	.	47	P14384	CBPM_HUMAN	C	47	ENSP00000448517:S47C;ENSP00000339157:S47C;ENSP00000447255:S47C;ENSP00000446799:S47C;ENSP00000449911:S47C;ENSP00000448078:S47C	.	S	-	1	0	CPM	67612746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.980000	0.49321	1.899000	0.54978	0.460000	0.39030	AGT		0.473	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		A	69326479	T	A	69326479	3	1	68	1	0	0	0	0	1	0	0	0	3810	1580	55	5	1224	5	CPM	12	69326479	Missense_Mutation	SNP	T	TCGA-A4-7734-01A-11D-2136-08	54398885	69326479	64525416	32	4713											
DUSP6	1848	hgsc.bcm.edu	37	12	89744677	89744677	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr12:89744677A>G	ENST00000279488.7	-	2	1757	c.526T>C	c.(526-528)Tct>Cct	p.S176P	DUSP6_ENST00000547291.1_Missense_Mutation_p.S51P|DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	176					cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TCCGAGGAAGAGTCAGAGCTG	0.607																																					Colon(132;3456 5224)											0													53	48	50					12																	89744677		2203	4300	6503	SO:0001583	missense	1848			BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.526T>C	chr12.hg19:g.89744677A>G	ENSP00000279488:p.Ser176Pro		O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	hg19	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.455071	0.63290	.	.	ENSG00000139318	ENST00000279488;ENST00000547291	T;T	0.03035	4.28;4.07	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.05090	0.0136	L	0.44542	1.39	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.43940	-0.9360	10	0.22706	T	0.39	.	16.0353	0.80625	1.0:0.0:0.0:0.0	.	176	Q16828	DUS6_HUMAN	P	176;51	ENSP00000279488:S176P;ENSP00000449838:S51P	ENSP00000279488:S176P	S	-	1	0	DUSP6	88268808	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.624000	0.61254	2.178000	0.69098	0.533000	0.62120	TCT		0.607	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		G	89744677	A	G	89744677	3	3	68	1	0	0	0	0	1	0	0	0	4831	304	11	3	627	3	DUSP6	12	89744677	Missense_Mutation	SNP	A	TCGA-A4-7734-01A-11D-2136-08	20418198	89744677	44107218	33	4714											
ABCD4	5826	hgsc.bcm.edu	37	14	74756774	74756774	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr14:74756774G>T	ENST00000356924.4	-	13	1518	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	ABCD4_ENST00000557554.1_5'Flank|ABCD4_ENST00000298816.7_Missense_Mutation_p.L355M|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	459	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TTTTGTGGCAGGAATAGCACC	0.592											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													80	82	82					14																	74756774		2203	4300	6503	SO:0001583	missense	5826			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1375C>A	chr14.hg19:g.74756774G>T	ENSP00000349396:p.Leu459Met	1155	A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	hg19	CCDS9828.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843870	0.71488	.	.	ENSG00000119688	ENST00000356924;ENST00000298816	D;D	0.95035	-2.78;-3.59	5.76	4.87	0.63330	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000001	D	0.96367	0.8815	M	0.66560	2.04	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.96434	0.9321	10	0.72032	D	0.01	.	11.9671	0.53042	0.1395:0.0:0.8605:0.0	.	355;459;459	F8W7M4;A8K5L7;O14678	.;.;ABCD4_HUMAN	M	459;355	ENSP00000349396:L459M;ENSP00000298816:L355M	ENSP00000298816:L355M	L	-	1	2	ABCD4	73826527	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.539000	0.60657	1.443000	0.47586	0.462000	0.41574	CTG		0.592	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		T	74756774	G	T	74756774	3	4	68	1	0	0	0	0	1	0	0	0	63	991	35	4	473	4	ABCD4	14	74756774	Missense_Mutation	SNP	G	TCGA-A4-7734-01A-11D-2136-08		74756774	32592766	34	4715											
NEDD4	4734	hgsc.bcm.edu	37	15	56208931	56208934	+	Frame_Shift_Del	DEL	CATG	CATG	-	rs1912403	byFrequency	TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	CATG	CATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr15:56208931_56208934delCATG	ENST00000508342.1	-	1	395_398	c.96_99delCATG	c.(94-99)cacatgfs	p.HM32fs	NEDD4_ENST00000506154.1_Frame_Shift_Del_p.HM32fs|NEDD4_ENST00000338963.2_Frame_Shift_Del_p.HM32fs|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	32					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTTTGAAGCACATGTGAACATGGC	0.436																																																0																																										SO:0001589	frameshift_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.96_99delCATG	chr15.hg19:g.56208931_56208934delCATG	ENSP00000424827:p.His32fs		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Frame_Shift_Del	DEL	ENST00000508342.1	hg19																																																																																					0.436	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		-	56208934	CATG	-	56208931	7	5	68	1	0	1	0	1	0	0	0	0	10312	478	17	0	3960	0	NEDD4	15	56208931	Frame_Shift_Del	DEL	CATG	TCGA-A4-7734-01A-11D-2136-08		56208931	46322461	35	4716	48	2									
NEDD4	4734	hgsc.bcm.edu	37	15	56208934	56208934	+	Silent	SNP	G	G	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr15:56208934G>A	ENST00000508342.1	-	1	395	c.96C>T	c.(94-96)caC>caT	p.H32H	NEDD4_ENST00000506154.1_Silent_p.H32H|NEDD4_ENST00000338963.2_Silent_p.H32H|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	32					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGAAGCACATGTGAACATGGC	0.438																																																0													184	172	176					15																	56208934		2193	4291	6484	SO:0001819	synonymous_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.96C>T	chr15.hg19:g.56208934G>A			A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	hg19																																																																																					0.438	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		A	56208934	G	A	56208934	2	1	68	1	0	0	0	0	0	0	0	1	10312	1368	48	2		2	NEDD4	15	56208934	Silent	SNP	G	TCGA-A4-7734-01A-11D-2136-08	3	56208934	46322458	36	4717	48	2									
PPIB	5479	hgsc.bcm.edu	37	15	64454355	64454355	+	Splice_Site	SNP	T	T	C			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr15:64454355T>C	ENST00000300026.3	-	2	354		c.e2-2		PPIB_ENST00000558492.1_Intron	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)						bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	AAAATACACCTGAGGAAAGAG	0.463																																					GBM(105;399 1481 32889 33051 36637)											0													132	141	138					15																	64454355		2203	4300	6503	SO:0001630	splice_region_variant	5479				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.136-2A>G	chr15.hg19:g.64454355T>C			A8K534|Q6IBH5|Q9BVK5	Splice_Site	SNP	ENST00000300026.3	hg19	CCDS10191.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.086591	0.76642	.	.	ENSG00000166794	ENST00000300026	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3959	0.74794	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPIB	62241408	1.000000	0.71417	0.976000	0.42696	0.823000	0.46562	7.490000	0.81461	2.121000	0.65114	0.374000	0.22700	.		0.463	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1		Intron	C	64454355	T	C	64454355	5	2	68	1	0	0	0	0	0	0	1	0	12324	1594	55	3	532	3	PPIB	15	64454355	Splice_Site	SNP	T	TCGA-A4-7734-01A-11D-2136-08	8245421	64454355	38077037	37	4718											
CORO1A	11151	hgsc.bcm.edu	37	16	30198546	30198547	+	Splice_Site	INS	-	-	GA			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr16:30198546_30198547insGA	ENST00000219150.5	+	5	941		c.e5+2		CORO1A_ENST00000570045.1_Splice_Site|RP11-455F5.5_ENST00000567153.1_RNA|CORO1A_ENST00000565497.1_Splice_Site|RP11-455F5.5_ENST00000568506.1_RNA|RP11-455F5.5_ENST00000566144.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A						actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GTCGTAGCTGTGAGTCGCCATC	0.589																																																0																																										SO:0001630	splice_region_variant	11151			X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.636+2->GA	chr16.hg19:g.30198547_30198548dupGA			B2RBL1|Q2YD73	Splice_Site	INS	ENST00000219150.5	hg19	CCDS10673.1																																																																																				0.589	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074	Intron	GA	30198547	-	GA	30198546	8	5	68	1	0	1	1	0	0	0	1	0	3755	1710	59	0	652	0	CORO1A	16	30198546	Splice_Site	INS	-	TCGA-A4-7734-01A-11D-2136-08		30198546	60156207	38	4719											
GPR97	222487	hgsc.bcm.edu	37	16	57719830	57719830	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr16:57719830C>T	ENST00000333493.4	+	11	1693	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	GPR97_ENST00000450388.3_Missense_Mutation_p.S391F|GPR97_ENST00000327655.6_Missense_Mutation_p.S301F|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	511					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTTTTCAACTCCTTGCAAGGT	0.597																																																0													88	82	84					16																	57719830		2198	4300	6498	SO:0001583	missense	222487			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1532C>T	chr16.hg19:g.57719830C>T	ENSP00000332900:p.Ser511Phe		Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	hg19	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752027	0.69533	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	T;T;T	0.56611	0.45;0.45;0.45	5.62	5.62	0.85841	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000025	T	0.80737	0.4680	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85478	0.1177	10	0.87932	D	0	.	18.6332	0.91368	0.0:1.0:0.0:0.0	.	511	Q86Y34	GPR97_HUMAN	F	511;301;391	ENSP00000332900:S511F;ENSP00000331199:S301F;ENSP00000404803:S391F	ENSP00000331199:S301F	S	+	2	0	GPR97	56277331	1.000000	0.71417	0.998000	0.56505	0.375000	0.29983	4.512000	0.60469	2.647000	0.89833	0.655000	0.94253	TCC		0.597	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		T	57719830	C	T	57719830	3	4	68	1	0	0	0	0	1	0	0	0	6722	855	30	2	1574	2	GPR97	16	57719830	Missense_Mutation	SNP	C	TCGA-A4-7734-01A-11D-2136-08	27521284	57719830	32634923	39	4720											
KIFC3	3801	hgsc.bcm.edu	37	16	57806198	57806198	+	Silent	SNP	T	T	C			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr16:57806198T>C	ENST00000379655.4	-	4	575	c.318A>G	c.(316-318)gtA>gtG	p.V106V	KIFC3_ENST00000543930.1_5'UTR|KIFC3_ENST00000562903.1_5'UTR|KIFC3_ENST00000445690.2_Silent_p.V106V|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000539578.1_Silent_p.V48V|KIFC3_ENST00000541240.1_Silent_p.V128V|KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000540079.2_Silent_p.V4V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	106					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCAGGTGTTCTACCTGTGGGC	0.617																																																0													117	92	101					16																	57806198		2198	4300	6498	SO:0001819	synonymous_variant	3801			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.318A>G	chr16.hg19:g.57806198T>C			A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	hg19	CCDS10789.2																																																																																				0.617	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		C	57806198	T	C	57806198	2	2	68	1	0	0	0	0	0	0	0	1	8316	1509	53	3		3	KIFC3	16	57806198	Silent	SNP	T	TCGA-A4-7734-01A-11D-2136-08	86368	57806198	32548555	40	4721											
MYO1C	4641	hgsc.bcm.edu	37	17	1370772	1370772	+	Splice_Site	SNP	A	A	C			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr17:1370772A>C	ENST00000575158.1	-	30	3137		c.e30+1		MYO1C_ENST00000438665.2_Splice_Site|MYO1C_ENST00000361007.2_Splice_Site|MYO1C_ENST00000359786.5_Splice_Site|MYO1C_ENST00000545534.2_Splice_Site			Q12965	MYO1E_HUMAN	myosin IC						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCGCGCCTCACCTGCCCTGG	0.677																																																0													64	58	60					17																	1370772		2203	4299	6502	SO:0001630	splice_region_variant	4641			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2960+1T>G	chr17.hg19:g.1370772A>C			Q14778	Splice_Site	SNP	ENST00000575158.1	hg19	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	a	23.7	4.448047	0.84101	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5923	0.68373	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO1C	1317522	1.000000	0.71417	0.994000	0.49952	0.936000	0.57629	9.119000	0.94362	2.231000	0.72958	0.456000	0.33151	.		0.677	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2		Intron	C	1370772	A	C	1370772	5	2	68	1	0	0	0	0	0	0	1	0	10072	173	6	5	136	5	MYO1C	17	1370772	Splice_Site	SNP	A	TCGA-A4-7734-01A-11D-2136-08		1370772	79824438	41	4722											
LUC7L3	51747	hgsc.bcm.edu	37	17	48818486	48818486	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr17:48818486T>C	ENST00000505658.1	+	4	419	c.230T>C	c.(229-231)aTg>aCg	p.M77T	LUC7L3_ENST00000544170.1_Start_Codon_SNP_p.M1T|LUC7L3_ENST00000240304.1_Missense_Mutation_p.M77T|LUC7L3_ENST00000393227.2_Missense_Mutation_p.M77T			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	77					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TCTCGTTTCATGAAAGTTGGC	0.383																																																0													180	182	181					17																	48818486		2203	4300	6503	SO:0001583	missense	51747				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"cisplatin resistance associated overexpressed protein", "CRE-associated protein"	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.230T>C	chr17.hg19:g.48818486T>C	ENSP00000425092:p.Met77Thr		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	hg19	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.064693	0.76187	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000505619;ENST00000544170;ENST00000510984	T;T;T;T;T	0.47528	1.31;1.31;1.31;1.03;0.84	5.95	4.83	0.62350	.	0.071512	0.85682	D	0.000000	T	0.39036	0.1063	L	0.31065	0.9	0.80722	D	1	D;B;B	0.53885	0.963;0.369;0.369	P;B;B	0.47786	0.557;0.171;0.237	T	0.11275	-1.0594	10	0.09338	T	0.73	-10.5258	13.4049	0.60906	0.0:0.0:0.1306:0.8694	.	1;77;77	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	T	77;77;77;77;126;1;1	ENSP00000425092:M77T;ENSP00000376919:M77T;ENSP00000240304:M77T;ENSP00000420933:M126T;ENSP00000444253:M1T	ENSP00000240304:M77T	M	+	2	0	LUC7L3	46173485	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.043000	0.64208	2.272000	0.75746	0.460000	0.39030	ATG		0.383	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		C	48818486	T	C	48818486	3	2	68	1	0	0	0	0	1	0	0	0	9086	1464	51	3	244	3	LUC7L3	17	48818486	Missense_Mutation	SNP	T	TCGA-A4-7734-01A-11D-2136-08	47447714	48818486	32376724	42	4723											
CLTC	1213	hgsc.bcm.edu	37	17	57724783	57724783	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr17:57724783A>T	ENST00000269122.3	+	3	549	c.275A>T	c.(274-276)aAc>aTc	p.N92I	CLTC_ENST00000579456.1_Missense_Mutation_p.N92I|CLTC_ENST00000393043.1_Missense_Mutation_p.N92I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	92	Globular terminal domain.|WD40-like repeat 2.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAGATTTTTAACATTGAAATG	0.318			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													73	71	72					17																	57724783		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.275A>T	chr17.hg19:g.57724783A>T	ENSP00000269122:p.Asn92Ile		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	hg19	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244879	0.79912	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.27256	1.68;1.68	5.79	5.79	0.91817	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.043886	0.85682	D	0.000000	T	0.63390	0.2507	H	0.94222	3.51	0.31520	N	0.662492	D;D	0.76494	0.994;0.999	D;D	0.79784	0.993;0.993	T	0.77419	-0.2595	10	0.87932	D	0	.	16.1376	0.81497	1.0:0.0:0.0:0.0	.	92;92	Q00610;Q00610-2	CLH1_HUMAN;.	I	92	ENSP00000269122:N92I;ENSP00000376763:N92I	ENSP00000269122:N92I	N	+	2	0	CLTC	55079565	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.212000	0.71576	0.533000	0.62120	AAC		0.318	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		T	57724783	A	T	57724783	3	4	68	1	0	0	0	0	1	0	0	0	3568	43	2	5	285	5	CLTC	17	57724783	Missense_Mutation	SNP	A	TCGA-A4-7734-01A-11D-2136-08	8906297	57724783	23470427	43	4724											
MUC16	94025	hgsc.bcm.edu	37	19	9064319	9064319	+	Silent	SNP	A	A	G			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr19:9064319A>G	ENST00000397910.4	-	3	23330	c.23127T>C	c.(23125-23127)caT>caC	p.H7709H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7711	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGGGGGATATGTGCTAGGA	0.547																																																0													102	105	104					19																	9064319		2045	4180	6225	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23127T>C	chr19.hg19:g.9064319A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	hg19	CCDS54212.1																																																																																				0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9064319	A	G	9064319	2	3	68	1	0	0	0	0	0	0	0	1	9975	446	16	3		3	MUC16	19	9064319	Silent	SNP	A	TCGA-A4-7734-01A-11D-2136-08		9064319	50064664	44	4725											
TBCB	1155	hgsc.bcm.edu	37	19	36606528	36606528	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr19:36606528C>G	ENST00000221855.3	+	1	641	c.66C>G	c.(64-66)ttC>ttG	p.F22L	POLR2I_ENST00000221859.4_5'Flank|TBCB_ENST00000392178.4_3'UTR|TBCB_ENST00000586868.1_5'Flank|TBCB_ENST00000589996.1_Missense_Mutation_p.F22L|TBCB_ENST00000585746.1_5'Flank	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	22					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCAACACCTTCCGCTCCGAGA	0.667																																																0													35	25	28					19																	36606528		2202	4298	6500	SO:0001583	missense	1155			AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"cytoskeleton-associated protein 1", "cytoskeleton associated protein 1"	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.66C>G	chr19.hg19:g.36606528C>G	ENSP00000221855:p.Phe22Leu		O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	ENST00000221855.3	hg19	CCDS12488.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391016	0.62066	.	.	ENSG00000105254	ENST00000221855;ENST00000392178	D	0.91068	-2.78	5.33	1.7	0.24286	.	0.000000	0.85682	D	0.000000	D	0.86916	0.6048	M	0.65498	2.005	0.80722	D	1	B	0.15473	0.013	B	0.20955	0.032	T	0.77035	-0.2737	10	0.28530	T	0.3	-21.5313	8.0558	0.30604	0.0:0.7565:0.0:0.2435	.	22	Q99426	TBCB_HUMAN	L	22	ENSP00000221855:F22L	ENSP00000221855:F22L	F	+	3	2	TBCB	41298368	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	1.041000	0.30291	0.088000	0.17205	0.484000	0.47621	TTC		0.667	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156291.2	NM_001281		G	36606528	C	G	36606528	3	3	68	1	0	0	0	0	1	0	0	0	15635	854	30	4	68	4	TBCB	19	36606528	Missense_Mutation	SNP	C	TCGA-A4-7734-01A-11D-2136-08	27542209	36606528	22522455	45	4726											
CIC	23152	hgsc.bcm.edu	37	19	42795453	42795453	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr19:42795453G>A	ENST00000575354.2	+	10	2573	c.2533G>A	c.(2533-2535)Gcc>Acc	p.A845T	CIC_ENST00000572681.2_Missense_Mutation_p.A1754T|CIC_ENST00000160740.3_Missense_Mutation_p.A845T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	845	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCAGCACCAGCCCCTGGGAC	0.677			"Mis, F, S"		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													16	17	17					19																	42795453		2165	4211	6376	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2533G>A	chr19.hg19:g.42795453G>A	ENSP00000458663:p.Ala845Thr		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	hg19	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547541	0.45383	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.44	1.07	0.20283	.	.	.	.	.	T	0.20901	0.0503	N	0.08118	0	0.30059	N	0.811071	B	0.11235	0.004	B	0.04013	0.001	T	0.17319	-1.0373	8	0.87932	D	0	-7.4144	5.5731	0.17208	0.1937:0.1695:0.6368:0.0	.	845	Q96RK0	CIC_HUMAN	T	845	.	ENSP00000160740:A845T	A	+	1	0	CIC	47487293	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.094000	0.41719	0.553000	0.29044	0.561000	0.74099	GCC		0.677	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			A	42795453	G	A	42795453	3	1	68	1	0	0	0	0	1	0	0	0	3426	971	34	2	2571	2	CIC	19	42795453	Missense_Mutation	SNP	G	TCGA-A4-7734-01A-11D-2136-08	6188925	42795453	16333530	46	4727											
TUBB1	81027	hgsc.bcm.edu	37	20	57597910	57597910	+	Missense_Mutation	SNP	T	T	C	rs374942824		TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr20:57597910T>C	ENST00000217133.1	+	2	337	c.68T>C	c.(67-69)aTg>aCg	p.M23T		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	23					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TTCTGGGAGATGATTGGTGAG	0.547																																																0								T	THR/MET	1,4405	2.1+/-5.4	0,1,2202	67	63	65		68	4.4	1	20		65	0,8600		0,0,4300	no	missense	TUBB1	NM_030773.3	81	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	23/452	57597910	1,13005	2203	4300	6503	SO:0001583	missense	81027			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.68T>C	chr20.hg19:g.57597910T>C	ENSP00000217133:p.Met23Thr			Missense_Mutation	SNP	ENST00000217133.1	hg19	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099754	0.37048	2.27E-4	0.0	ENSG00000101162	ENST00000217133	T	0.68903	-0.36	4.36	4.36	0.52297	Tubulin/FtsZ, GTPase domain (3);	0.121035	0.56097	D	0.000037	T	0.31888	0.0811	N	0.00277	-1.72	0.37932	D	0.932041	B	0.02656	0.0	B	0.04013	0.001	T	0.41413	-0.9510	10	0.87932	D	0	.	13.0037	0.58692	0.0:0.0:0.0:1.0	.	23	Q9H4B7	TBB1_HUMAN	T	23	ENSP00000217133:M23T	ENSP00000217133:M23T	M	+	2	0	TUBB1	57031305	1.000000	0.71417	0.989000	0.46669	0.464000	0.32679	7.967000	0.87967	1.727000	0.51537	0.528000	0.53228	ATG		0.547	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		C	57597910	T	C	57597910	3	2	68	1	0	0	0	0	1	0	0	0	16758	1464	51	3	74	3	TUBB1	20	57597910	Missense_Mutation	SNP	T	TCGA-A4-7734-01A-11D-2136-08		57597910	5427610	47	4728											
SON	6651	hgsc.bcm.edu	37	21	34927198	34927198	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr21:34927198delA	ENST00000356577.4	+	3	6136	c.5661delA	c.(5659-5661)tcafs	p.S1887fs	SON_ENST00000290239.6_Frame_Shift_Del_p.S1887fs|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Frame_Shift_Del_p.S1887fs|SON_ENST00000300278.4_Frame_Shift_Del_p.S1887fs	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1887					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GATCTGTATCAAAAGAGAAGC	0.453																																																0													52	50	51					21																	34927198		2203	4300	6503	SO:0001589	frameshift_variant	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5661delA	chr21.hg19:g.34927198delA	ENSP00000348984:p.Ser1887fs		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Frame_Shift_Del	DEL	ENST00000356577.4	hg19	CCDS13629.1																																																																																				0.453	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		-	34927198	A	-	34927198	7	5	68	1	0	1	0	1	0	0	0	0	14932	117	5	0	5671	0	SON	21	34927198	Frame_Shift_Del	DEL	A	TCGA-A4-7734-01A-11D-2136-08		34927198	13202697	48	4729											
SLC37A1	54020	hgsc.bcm.edu	37	21	43963563	43963563	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chr21:43963563G>A	ENST00000352133.2	+	8	1563	c.581G>A	c.(580-582)gGg>gAg	p.G194E	SLC37A1_ENST00000398341.3_Missense_Mutation_p.G194E			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	194					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TTGATTATGGGGGTCTGGAAC	0.572																																																0													165	155	158					21																	43963563		2203	4300	6503	SO:0001583	missense	54020			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.581G>A	chr21.hg19:g.43963563G>A	ENSP00000344648:p.Gly194Glu		D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	hg19	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732737	0.89482	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.66099	-0.19;-0.19	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.177957	0.49916	D	0.000125	D	0.85292	0.5663	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89875	0.4026	10	0.87932	D	0	-14.7963	18.3114	0.90201	0.0:0.0:1.0:0.0	.	194	P57057	GLPT_HUMAN	E	194	ENSP00000381383:G194E;ENSP00000344648:G194E	ENSP00000344648:G194E	G	+	2	0	SLC37A1	42836632	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.423000	0.97461	2.324000	0.78689	0.650000	0.86243	GGG		0.572	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			A	43963563	G	A	43963563	3	1	68	1	0	0	0	0	1	0	0	0	14603	1232	43	2	607	2	SLC37A1	21	43963563	Missense_Mutation	SNP	G	TCGA-A4-7734-01A-11D-2136-08	9036365	43963563	4166332	49	4730											
GPR174	84636	hgsc.bcm.edu	37	X	78427128	78427128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7734-01A-11D-2136-08	TCGA-A4-7734-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	397b1104-cfd3-4d68-9e37-7ce13f64d5ea	9436630f-ab20-427a-9f0d-a8c636844aa8	g.chrX:78427128delG	ENST00000276077.1	+	1	660	c.624delG	c.(622-624)acgfs	p.T208fs		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CCTGGAAGACGGTTTTATCAC	0.438										HNSCC(63;0.18)																																						0													97	93	94					X																	78427128		2203	4300	6503	SO:0001589	frameshift_variant	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.624delG	chrX.hg19:g.78427128delG	ENSP00000276077:p.Thr208fs		Q2M3F7	Frame_Shift_Del	DEL	ENST00000276077.1	hg19	CCDS14443.1																																																																																				0.438	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		-	78427128	G	-	78427128	7	5	68	1	0	1	0	1	0	0	0	0	6674	1103	39	0	626	0	GPR174	23	78427128	Frame_Shift_Del	DEL	G	TCGA-A4-7734-01A-11D-2136-08		78427128	76843432	50	4731											
MTOR	2475	hgsc.bcm.edu	37	1	11184573	11184573	+	Missense_Mutation	SNP	G	G	T	rs587777894		TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr1:11184573G>T	ENST00000361445.4	-	47	6720	c.6644C>A	c.(6643-6645)tCt>tAt	p.S2215Y	MTOR_ENST00000376838.1_Missense_Mutation_p.S420Y	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2215	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		S -> Y (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.S2215Y(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTTCCGAAGAGATGTTGGGTC	0.438																																																4	Substitution - Missense(4)	large_intestine(2)|kidney(1)|endometrium(1)											101	98	99					1																	11184573		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6644C>A	chr1.hg19:g.11184573G>T	ENSP00000354558:p.Ser2215Tyr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	hg19	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903707	0.92035	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.78364	-1.17;-1.17	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	M	0.86651	2.83	0.80722	D	1	D	0.58970	0.984	P	0.60541	0.876	D	0.90182	0.4243	10	0.87932	D	0	-14.2436	18.2956	0.90145	0.0:0.0:1.0:0.0	.	2215	P42345	MTOR_HUMAN	Y	2215;420	ENSP00000354558:S2215Y;ENSP00000366034:S420Y	ENSP00000354558:S2215Y	S	-	2	0	MTOR	11107160	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.362000	0.97126	2.761000	0.94854	0.650000	0.86243	TCT		0.438	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11184573	G	T	11184573	3	4	69	1	0	0	0	0	1	0	0	0	9956	942	33	4	1053	4	MTOR	1	11184573	Missense_Mutation	SNP	G	TCGA-A4-7828-01A-11D-2136-08		11184573	238066048	1	4732											
C1orf175	374977	hgsc.bcm.edu	37	1	55118778	55118778	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr1:55118778A>C	ENST00000421030.2	+	3	464	c.179A>C	c.(178-180)gAt>gCt	p.D60A	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.D60A|MROH7_ENST00000395690.2_Missense_Mutation_p.D60A|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.D60A	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	60						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTCGTTCCAGATCTTAATGAT	0.567																																																0													77	78	77					1																	55118778		1918	4127	6045	SO:0001583	missense	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.179A>C	chr1.hg19:g.55118778A>C	ENSP00000396622:p.Asp60Ala		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	hg19	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	A	6.762	0.509542	0.12883	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.02974	4.62;4.09;4.11	3.58	1.19	0.21007	.	.	.	.	.	T	0.02012	0.0063	N	0.17082	0.46	0.09310	N	0.999998	B;B;P	0.46142	0.154;0.015;0.873	B;B;B	0.42495	0.053;0.018;0.389	T	0.47724	-0.9095	9	0.33141	T	0.24	.	3.5678	0.07907	0.6251:0.247:0.1279:0.0	.	60;60;60	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	A	60	ENSP00000396622:D60A;ENSP00000343211:D60A;ENSP00000379044:D60A	ENSP00000343211:D60A	D	+	2	0	HEATR8	54891366	0.027000	0.19231	0.058000	0.19502	0.109000	0.19521	0.013000	0.13310	0.238000	0.21222	0.459000	0.35465	GAT		0.567	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		C	55118778	A	C	55118778	3	2	69	1	0	0	0	0	1	0	0	0	2018	333	12	5	181	5	C1orf175	1	55118778	Missense_Mutation	SNP	A	TCGA-A4-7828-01A-11D-2136-08	43934205	55118778	194131843	2	4733											
TRIM33	51592	hgsc.bcm.edu	37	1	114948195	114948195	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr1:114948195G>A	ENST00000358465.2	-	15	2688	c.2605C>T	c.(2605-2607)Cac>Tac	p.H869Y	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000450349.2_Missense_Mutation_p.H501Y|TRIM33_ENST00000369543.2_Missense_Mutation_p.H869Y	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	869					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCGACCTGTGCATGAGGCTT	0.468			T	RET	papillary thyroid																																		Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	0													218	196	203					1																	114948195		2203	4300	6503	SO:0001583	missense	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2605C>T	chr1.hg19:g.114948195G>A	ENSP00000351250:p.His869Tyr		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	hg19	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895312	0.72639	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.75589	-0.81;-0.71;-0.95	5.29	5.29	0.74685	Zinc finger, FYVE/PHD-type (1);	0.224309	0.50627	D	0.000108	T	0.66944	0.2841	N	0.19112	0.55	0.53688	D	0.999974	D;D;P;P;P	0.54601	0.967;0.957;0.952;0.952;0.92	P;B;B;P;B	0.53102	0.718;0.402;0.446;0.548;0.346	T	0.72261	-0.4345	10	0.59425	D	0.04	-10.5094	19.2948	0.94118	0.0:0.0:1.0:0.0	.	501;501;64;869;869	E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.;.;.;.;TRI33_HUMAN	Y	869;869;501	ENSP00000351250:H869Y;ENSP00000358556:H869Y;ENSP00000412077:H501Y	ENSP00000351250:H869Y	H	-	1	0	TRIM33	114749718	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.388000	0.73195	2.636000	0.89361	0.491000	0.48974	CAC		0.468	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		A	114948195	G	A	114948195	3	1	69	1	0	0	0	0	1	0	0	0	16512	1319	46	2	802	2	TRIM33	1	114948195	Missense_Mutation	SNP	G	TCGA-A4-7828-01A-11D-2136-08	59829417	114948195	134302426	3	4734											
ADAMTSL4	54507	hgsc.bcm.edu	37	1	150525534	150525534	+	Missense_Mutation	SNP	C	C	A	rs146377111		TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr1:150525534C>A	ENST00000369038.2	+	3	440	c.239C>A	c.(238-240)cCg>cAg	p.P80Q	MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P80Q|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P80Q|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P80Q|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	80	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAGCTCCACCCGAGTCTGCCC	0.692																																																0													23	26	25					1																	150525534		2202	4295	6497	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.239C>A	chr1.hg19:g.150525534C>A	ENSP00000358034:p.Pro80Gln		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	hg19	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.732956	0.00687	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.65549	-0.05;-0.16;0.15;-0.16	4.35	-7.79	0.01218	.	.	.	.	.	T	0.08714	0.0216	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.15473	0.001;0.002;0.003;0.013	B;B;B;B	0.12837	0.003;0.005;0.006;0.008	T	0.15925	-1.0420	9	0.21540	T	0.41	.	0.0314	0.00006	0.3189:0.1828:0.2132:0.2851	.	80;80;80;80	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	Q	80	ENSP00000358037:P80Q;ENSP00000271643:P80Q;ENSP00000358035:P80Q;ENSP00000358034:P80Q	ENSP00000271643:P80Q	P	+	2	0	ADAMTSL4	148792158	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.846000	0.04336	-1.557000	0.01692	-2.375000	0.00234	CCG		0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		A	150525534	C	A	150525534	3	1	69	1	0	0	0	0	1	0	0	0	277	652	23	4	249	4	ADAMTSL4	1	150525534	Missense_Mutation	SNP	C	TCGA-A4-7828-01A-11D-2136-08	35577339	150525534	98725087	4	4735											
APOB	338	hgsc.bcm.edu	37	2	21224920	21224921	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr2:21224920_21224921insG	ENST00000233242.1	-	29	13500_13501	c.13373_13374insC	c.(13372-13374)ccafs	p.P4458fs	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4458					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTCCATCTGGATCGGTAAG	0.396																																																0																																										SO:0001589	frameshift_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13374dupC	chr2.hg19:g.21224922_21224922dupG	ENSP00000233242:p.Pro4458fs		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Ins	INS	ENST00000233242.1	hg19	CCDS1703.1																																																																																				0.396	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			G	21224921	-	G	21224920	7	5	69	1	0	1	1	0	0	0	0	0	785	1567	55	0	321	0	APOB	2	21224920	Frame_Shift_Ins	INS	-	TCGA-A4-7828-01A-11D-2136-08		21224920	221974453	5	4736											
DHRS9	10170	hgsc.bcm.edu	37	2	169938176	169938176	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr2:169938176G>A	ENST00000327239.4	+	5	1589	c.85G>A	c.(85-87)Gat>Aat	p.D29N	DHRS9_ENST00000432060.2_Missense_Mutation_p.D89N|DHRS9_ENST00000357546.2_Missense_Mutation_p.D29N|DHRS9_ENST00000412271.1_Missense_Mutation_p.D29N|DHRS9_ENST00000428522.1_Missense_Mutation_p.D29N|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Missense_Mutation_p.D29N|DHRS9_ENST00000436483.2_Missense_Mutation_p.D29N	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	29					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGACATCACTGATAAGTACAT	0.428																																																0													118	117	117					2																	169938176		2203	4300	6503	SO:0001583	missense	10170			AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.85G>A	chr2.hg19:g.169938176G>A	ENSP00000316670:p.Asp29Asn		B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	hg19	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099956	0.56183	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000450153;ENST00000436483;ENST00000412271	D;D;D;D;T;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;0.73;-2.53;-2.53	5.88	2.98	0.34508	NAD(P)-binding domain (1);	0.501056	0.24625	N	0.036936	T	0.77624	0.4158	N	0.11756	0.17	0.34824	D	0.738968	B;B	0.17268	0.021;0.013	B;B	0.19666	0.026;0.018	T	0.73550	-0.3947	10	0.30854	T	0.27	.	10.261	0.43427	0.228:0.0:0.772:0.0	.	89;29	B7Z416;Q9BPW9	.;DHRS9_HUMAN	N	29;29;89;29;29;29;29	ENSP00000316670:D29N;ENSP00000350154:D29N;ENSP00000389241:D89N;ENSP00000388564:D29N;ENSP00000391214:D29N;ENSP00000407167:D29N;ENSP00000407747:D29N	ENSP00000316670:D29N	D	+	1	0	DHRS9	169646422	0.316000	0.24580	0.753000	0.31225	0.908000	0.53690	0.839000	0.27586	0.752000	0.32923	0.655000	0.94253	GAT		0.428	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		A	169938176	G	A	169938176	3	1	69	1	0	0	0	0	1	0	0	0	4500	1290	45	2	87	2	DHRS9	2	169938176	Missense_Mutation	SNP	G	TCGA-A4-7828-01A-11D-2136-08	148713256	169938176	73261197	6	4737											
ICA1L	130026	hgsc.bcm.edu	37	2	203680713	203680713	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr2:203680713C>A	ENST00000392237.2	-	8	861	c.704G>T	c.(703-705)tGg>tTg	p.W235L	ICA1L_ENST00000358299.2_Missense_Mutation_p.W235L	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	235	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTTTCTTCCAGAATCCAAG	0.388																																																0													100	97	98					2																	203680713		2203	4300	6503	SO:0001583	missense	130026			AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.704G>T	chr2.hg19:g.203680713C>A	ENSP00000376070:p.Trp235Leu		B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	hg19	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293325	0.80914	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	T;T	0.76186	-1.0;-1.0	5.77	4.87	0.63330	Arfaptin-like (3);	0.058720	0.64402	N	0.000001	T	0.79143	0.4396	M	0.65975	2.015	0.80722	D	1	P	0.45011	0.848	P	0.50825	0.651	T	0.78575	-0.2151	10	0.39692	T	0.17	.	13.7616	0.62971	0.1549:0.8451:0.0:0.0	.	235	Q8NDH6	ICA1L_HUMAN	L	235	ENSP00000376070:W235L;ENSP00000351047:W235L	ENSP00000351047:W235L	W	-	2	0	ICA1L	203388958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.358000	0.66064	1.399000	0.46721	0.655000	0.94253	TGG		0.388	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		A	203680713	C	A	203680713	3	1	69	1	0	0	0	0	1	0	0	0	7480	595	21	4	772	4	ICA1L	2	203680713	Missense_Mutation	SNP	C	TCGA-A4-7828-01A-11D-2136-08	33742537	203680713	39518660	7	4738											
CLCN2	1181	hgsc.bcm.edu	37	3	184075764	184075764	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr3:184075764G>A	ENST00000265593.4	-	5	772	c.601C>T	c.(601-603)Ccg>Tcg	p.P201S	CLCN2_ENST00000344937.7_Missense_Mutation_p.P201S|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.P201S|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.P157S|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	201					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTGCCAAGCGGCATCCCGCTG	0.597																																																0													57	55	56					3																	184075764		2203	4300	6503	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.601C>T	chr3.hg19:g.184075764G>A	ENSP00000265593:p.Pro201Ser		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	hg19	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.123267	0.77436	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	4.58	4.58	0.56647	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.92450	0.7603	L	0.31926	0.97	0.80722	D	1	D;D;P;D;D	0.89917	0.999;1.0;0.915;0.976;0.992	D;D;P;P;D	0.97110	0.994;1.0;0.851;0.9;0.932	D	0.93567	0.6900	10	0.87932	D	0	-17.2281	16.3077	0.82855	0.0:0.0:1.0:0.0	.	201;157;201;201;201	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	S	201;201;157;201	ENSP00000265593:P201S;ENSP00000345056:P201S;ENSP00000400425:P157S;ENSP00000391928:P201S	ENSP00000265593:P201S	P	-	1	0	CLCN2	185558458	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.595000	0.98260	2.378000	0.81104	0.561000	0.74099	CCG		0.597	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			A	184075764	G	A	184075764	3	1	69	1	0	0	0	0	1	0	0	0	3465	1203	42	2	2175	2	CLCN2	3	184075764	Missense_Mutation	SNP	G	TCGA-A4-7828-01A-11D-2136-08		184075764	13946666	8	4739											
POLR2B	5431	hgsc.bcm.edu	37	4	57888371	57888373	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr4:57888371_57888373delAAG	ENST00000381227.1	+	19	2887_2889	c.2474_2476delAAG	c.(2473-2478)caagaa>caa	p.E827del	POLR2B_ENST00000431623.2_In_Frame_Del_p.E752del|POLR2B_ENST00000314595.5_In_Frame_Del_p.E827del|POLR2B_ENST00000441246.2_In_Frame_Del_p.E820del			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	827					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GGATTTGATCAAGAAGAAGTTTT	0.34																																																0																																										SO:0001651	inframe_deletion	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2474_2476delAAG	chr4.hg19:g.57888377_57888379delAAG	ENSP00000370625:p.Glu827del		A8K1A8|Q8IZ61	In_Frame_Del	DEL	ENST00000381227.1	hg19	CCDS3511.1																																																																																				0.34	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		-	57888373	AAG	-	57888371	7	5	69	1	0	1	0	1	0	0	0	0	12217	130	5	0	2544	0	POLR2B	4	57888371	In_Frame_Del	DEL	AAG	TCGA-A4-7828-01A-11D-2136-08		57888371	133265905	9	4740											
ITGA2	3673	hgsc.bcm.edu	37	5	52366069	52366069	+	Silent	SNP	C	C	G	rs142557473		TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr5:52366069C>G	ENST00000296585.5	+	17	2357	c.2214C>G	c.(2212-2214)ccC>ccG	p.P738P		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	738					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGAGTTGCCCCGAGCACATCA	0.398																																																0													72	71	71					5																	52366069		2203	4300	6503	SO:0001819	synonymous_variant	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2214C>G	chr5.hg19:g.52366069C>G			Q14595	Silent	SNP	ENST00000296585.5	hg19	CCDS3957.1																																																																																				0.398	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		G	52366069	C	G	52366069	2	3	69	1	0	0	0	0	0	0	0	1	7877	639	23	4		4	ITGA2	5	52366069	Silent	SNP	C	TCGA-A4-7828-01A-11D-2136-08		52366069	128549191	10	4741											
CMYA5	202333	hgsc.bcm.edu	37	5	79034426	79034426	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr5:79034426delG	ENST00000446378.2	+	2	9869	c.9838delG	c.(9838-9840)gggfs	p.G3280fs		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3280					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCTGCAGAAGGGGAAATTTG	0.453																																																0													104	100	101					5																	79034426		1865	4114	5979	SO:0001589	frameshift_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9838delG	chr5.hg19:g.79034426delG	ENSP00000394770:p.Gly3280fs		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Frame_Shift_Del	DEL	ENST00000446378.2	hg19	CCDS47238.1																																																																																				0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		-	79034426	G	-	79034426	7	5	69	1	0	1	0	1	0	0	0	0	3592	1000	35	0	9844	0	CMYA5	5	79034426	Frame_Shift_Del	DEL	G	TCGA-A4-7828-01A-11D-2136-08	26668357	79034426	101880834	11	4742											
PCDHAC1	56135	hgsc.bcm.edu	37	5	140307713	140307713	+	Silent	SNP	A	A	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr5:140307713A>G	ENST00000253807.2	+	1	1236	c.1236A>G	c.(1234-1236)caA>caG	p.Q412Q	PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Silent_p.Q412Q|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATACCAAGTCCTGATCA	0.517																																																0													81	79	80					5																	140307713		2203	4300	6503	SO:0001819	synonymous_variant	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1236A>G	chr5.hg19:g.140307713A>G			Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	hg19	CCDS4241.1																																																																																				0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		G	140307713	A	G	140307713	2	3	69	1	0	0	0	0	0	0	0	1	11534	69	3	3		3	PCDHAC1	5	140307713	Silent	SNP	A	TCGA-A4-7828-01A-11D-2136-08	61273287	140307713	40607547	12	4743											
PKD1L1	168507	hgsc.bcm.edu	37	7	47944905	47944905	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:47944905T>A	ENST00000289672.2	-	11	1590	c.1540A>T	c.(1540-1542)Aat>Tat	p.N514Y		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	514	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGTTCCATTTGTGTAGACA	0.443																																																0													139	128	132					7																	47944905		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1540A>T	chr7.hg19:g.47944905T>A	ENSP00000289672:p.Asn514Tyr		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518459	0.64634	.	.	ENSG00000158683	ENST00000289672	T	0.69435	-0.4	5.38	5.38	0.77491	PKD/Chitinase domain (1);	0.178382	0.36519	N	0.002559	T	0.72260	0.3438	L	0.29908	0.895	0.32501	N	0.53884	D	0.89917	1.0	D	0.75484	0.986	T	0.78435	-0.2205	10	0.59425	D	0.04	-24.3676	13.6779	0.62465	0.0:0.0:0.0:1.0	.	514	Q8TDX9	PK1L1_HUMAN	Y	514	ENSP00000289672:N514Y	ENSP00000289672:N514Y	N	-	1	0	PKD1L1	47911430	0.998000	0.40836	0.991000	0.47740	0.970000	0.65996	2.029000	0.41098	2.185000	0.69588	0.529000	0.55759	AAT		0.443	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47944905	T	A	47944905	3	1	69	1	0	0	0	0	1	0	0	0	11966	1841	64	5	7197	5	PKD1L1	7	47944905	Missense_Mutation	SNP	T	TCGA-A4-7828-01A-11D-2136-08		47944905	111193758	13	4744											
ZKSCAN5	23660	hgsc.bcm.edu	37	7	99129235	99129235	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:99129235G>A	ENST00000394170.2	+	7	2134	c.1883G>A	c.(1882-1884)aGt>aAt	p.S628N	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.S628N|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.S628N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCGTGCACAGTGGGGAGAGA	0.557																																																0													80	70	74					7																	99129235		2203	4300	6503	SO:0001583	missense	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1883G>A	chr7.hg19:g.99129235G>A	ENSP00000377725:p.Ser628Asn		A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	hg19	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852959	0.71719	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.19394	2.15;2.15;2.15	5.23	4.29	0.51040	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.091827	0.48767	D	0.000175	T	0.29389	0.0732	L	0.46885	1.475	0.35690	D	0.814761	P;P	0.49185	0.92;0.92	P;P	0.53313	0.598;0.723	T	0.14090	-1.0485	10	0.52906	T	0.07	.	11.8173	0.52218	0.0:0.2653:0.7347:0.0	.	628;628	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	N	628	ENSP00000322872:S628N;ENSP00000392104:S628N;ENSP00000377725:S628N	ENSP00000322872:S628N	S	+	2	0	ZKSCAN5	98967171	0.999000	0.42202	0.986000	0.45419	0.987000	0.75469	3.694000	0.54742	2.894000	0.99253	0.591000	0.81541	AGT		0.557	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		A	99129235	G	A	99129235	3	1	69	1	0	0	0	0	1	0	0	0	17695	1029	36	2	1905	2	ZKSCAN5	7	99129235	Missense_Mutation	SNP	G	TCGA-A4-7828-01A-11D-2136-08	51184330	99129235	60009428	14	4745											
VGF	7425	hgsc.bcm.edu	37	7	100806695	100806695	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:100806695T>A	ENST00000249330.2	-	2	1669	c.1430A>T	c.(1429-1431)gAg>gTg	p.E477V	VGF_ENST00000445482.2_Missense_Mutation_p.E477V	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	477					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGCTTCTCCTCCACCTCCTC	0.697																																																0													58	61	60					7																	100806695		2203	4300	6503	SO:0001583	missense	7425			Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"neuro-endocrine specific protein VGF"	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1430A>T	chr7.hg19:g.100806695T>A	ENSP00000249330:p.Glu477Val		Q9UDW8	Missense_Mutation	SNP	ENST00000249330.2	hg19	CCDS5712.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.386102	0.61956	.	.	ENSG00000128564	ENST00000249330;ENST00000445482	.	.	.	4.41	4.41	0.53225	.	0.000000	0.48286	U	0.000186	T	0.56307	0.1976	N	0.24115	0.695	0.40841	D	0.983675	D	0.76494	0.999	D	0.80764	0.994	T	0.61720	-0.7005	9	0.87932	D	0	-7.6164	10.0532	0.42228	0.0:0.0:0.0:1.0	.	477	O15240	VGF_HUMAN	V	477	.	ENSP00000249330:E477V	E	-	2	0	VGF	100593415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.280000	0.51677	1.650000	0.50662	0.449000	0.29647	GAG		0.697	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378		A	100806695	T	A	100806695	3	1	69	1	0	0	0	0	1	0	0	0	17162	1551	54	5	421	5	VGF	7	100806695	Missense_Mutation	SNP	T	TCGA-A4-7828-01A-11D-2136-08	1677460	100806695	58331968	15	4746											
TBXAS1	6916	hgsc.bcm.edu	37	7	139719838	139719838	+	Nonstop_Mutation	SNP	T	T	C			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr7:139719838T>C	ENST00000411653.1	+	12	1505	c.1378T>C	c.(1378-1380)Tag>Cag	p.*460Q	TBXAS1_ENST00000425687.1_Missense_Mutation_p.L447P|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L561P|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L515P|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L514P|TBXAS1_ENST00000263552.6_Missense_Mutation_p.L515P|TBXAS1_ENST00000414508.2_Nonstop_Mutation_p.*461Q|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L514P|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L560P			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	0					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCGCTGCAGCTAGAATCCAAA	0.453																																																0													86	87	86					7																	139719838		2203	4300	6503	SO:0001578	stop_lost	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000411653.1:c.1378T>C	chr7.hg19:g.139719838T>C	ENSP00000411326:p.*460Glnext*6		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000411653.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.44|16.44	3.125072|3.125072	0.56721|0.56721	.|.	.|.	ENSG00000059377|ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000448866;ENST00000458722|ENST00000414508;ENST00000411653	T;T;T;T;T;T;T|.	0.68331|.	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|.	0.70657|.	0.3249|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;1.0;1.0;0.996;0.996|.	T|.	0.69914|.	-0.5016|.	9|.	0.87932|.	D|.	0|.	.|.	14.324|14.324	0.66507|0.66507	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	495;561;447;515;514|.	B4DVP1;E7EP08;E7ESB5;Q53F23;P24557|.	.;.;.;.;THAS_HUMAN|.	P|Q	447;515;514;561;515;514;560|461;460	ENSP00000388736:L447P;ENSP00000263552:L515P;ENSP00000338087:L514P;ENSP00000389414:L561P;ENSP00000392361:L515P;ENSP00000402536:L514P;ENSP00000411274:L560P|.	ENSP00000263552:L515P|.	L|X	+|+	2|1	0|0	TBXAS1|TBXAS1	139366307|139366307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	5.929000|5.929000	0.70096|0.70096	2.187000|2.187000	0.69744|0.69744	0.459000|0.459000	0.35465|0.35465	CTA|TAG		0.453	TBXAS1-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348377.1			C	139719838	T	C	139719838	4	2	69	1	0	0	0	0	0	0	0	0	15669	1535	53	3	1736	3	TBXAS1	7	139719838	Nonstop_Mutation	SNP	T	TCGA-A4-7828-01A-11D-2136-08	38913143	139719838	19418825	16	4747											
CPA6	57094	hgsc.bcm.edu	37	8	68397000	68397000	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr8:68397000G>A	ENST00000297770.4	-	7	876	c.661C>T	c.(661-663)Cca>Tca	p.P221S	CPA6_ENST00000518549.1_Missense_Mutation_p.P221S|CPA6_ENST00000297769.4_Missense_Mutation_p.P73S	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	221						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTCATGGCTGGGTCACTCTTA	0.353																																																0													92	81	84					8																	68397000		2203	4300	6503	SO:0001583	missense	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.661C>T	chr8.hg19:g.68397000G>A	ENSP00000297770:p.Pro221Ser		Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	hg19	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689277	0.29962	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.10860	2.83;2.83;2.83	5.25	4.36	0.52297	Peptidase M14, carboxypeptidase A (2);	0.112178	0.64402	D	0.000006	T	0.08980	0.0222	L	0.28115	0.83	0.44587	D	0.997554	P;P;B	0.48230	0.907;0.537;0.003	B;B;B	0.41691	0.364;0.203;0.013	T	0.26573	-1.0099	10	0.32370	T	0.25	.	13.3643	0.60674	0.0:0.1588:0.8412:0.0	.	221;73;221	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	S	73;221;221	ENSP00000297769:P73S;ENSP00000297770:P221S;ENSP00000431112:P221S	ENSP00000297769:P73S	P	-	1	0	CPA6	68559554	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.498000	0.66931	1.306000	0.44926	0.643000	0.83706	CCA		0.353	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		A	68397000	G	A	68397000	3	1	69	1	0	0	0	0	1	0	0	0	3796	1232	43	2	672	2	CPA6	8	68397000	Missense_Mutation	SNP	G	TCGA-A4-7828-01A-11D-2136-08		68397000	77967022	17	4748											
HEATR7A	727957	hgsc.bcm.edu	37	8	145267981	145267981	+	Intron	SNP	C	C	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr8:145267981C>T	ENST00000528919.1	+	12	1262				MROH1_ENST00000423230.2_Missense_Mutation_p.P409L|MROH1_ENST00000527071.1_Intron|MROH1_ENST00000534366.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000326134.5_Intron	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1																		CGTGCTGCTCCGCAGCCTGCT	0.557																																																0													93	104	100					8																	145267981		2144	4245	6389	SO:0001627	intron_variant	727957				CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"maestro heat-like repeat containing"	26958	protein-coding gene	gene with protein product			"HEAT repeat containing 7A"	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.1142-7522C>T	chr8.hg19:g.145267981C>T			C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	hg19	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	C	2.586	-0.296322	0.05532	.	.	ENSG00000179832	ENST00000423230	T	0.15718	2.4	0.818	-1.64	0.08318	.	.	.	.	.	T	0.06371	0.0164	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40627	-0.9553	8	0.13470	T	0.59	.	1.5793	0.02631	0.3347:0.385:0.0:0.2803	.	409	Q8NDA8-4	.	L	409	ENSP00000388174:P409L	ENSP00000388174:P409L	P	+	2	0	HEATR7A	145339969	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.583000	0.23849	-0.788000	0.04504	0.460000	0.39030	CCG		0.557	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		T	145267981	C	T	145267981	1	4	69	0	1	0	0	0	0	0	0	0	7036	652	23	1		1	HEATR7A	8	145267981	Intron	SNP	C	TCGA-A4-7828-01A-11D-2136-08	76870981	145267981	1096041	18	4749											
C10orf137	26098	hgsc.bcm.edu	37	10	127442312	127442312	+	Missense_Mutation	SNP	A	A	G	rs199695348		TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr10:127442312A>G	ENST00000356792.4	+	24	3675	c.3443A>G	c.(3442-3444)aAt>aGt	p.N1148S	RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.N1114S|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCTAGTCTCAATCGAGAAGAA	0.393																																																0													153	143	146					10																	127442312		2203	4300	6503	SO:0001583	missense	26098																														ENST00000356792.4:c.3443A>G	chr10.hg19:g.127442312A>G	ENSP00000349244:p.Asn1148Ser		B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	hg19	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	8.698	0.908981	0.17833	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.42131	0.98;0.98	4.89	-2.12	0.07165	.	0.274294	0.39020	N	0.001485	T	0.14313	0.0346	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.18310	0.027;0.013;0.0	B;B;B	0.14578	0.009;0.011;0.003	T	0.26018	-1.0115	10	0.13470	T	0.59	.	6.4393	0.21841	0.5191:0.1277:0.3532:0.0	.	1148;495;1114	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	S	1148;1114	ENSP00000349244:N1148S;ENSP00000336727:N1114S	ENSP00000336727:N1114S	N	+	2	0	C10orf137	127432302	0.081000	0.21417	0.000000	0.03702	0.099000	0.18886	1.651000	0.37302	-0.178000	0.10672	-0.274000	0.10170	AAT		0.393	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			G	127442312	A	G	127442312	3	3	69	1	0	0	0	0	1	0	0	0	1596	101	4	3	3431	3	C10orf137	10	127442312	Missense_Mutation	SNP	A	TCGA-A4-7828-01A-11D-2136-08		127442312	8092435	19	4750											
SLCO2B1	11309	hgsc.bcm.edu	37	11	74883496	74883496	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr11:74883496G>C	ENST00000289575.5	+	7	1249	c.854G>C	c.(853-855)gGt>gCt	p.G285A	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G263A|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.G58A|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G141A|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.G58A|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.G30A|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G169A	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	285					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	ATCGCTGCCGGTGCAGTGGCC	0.557																																																0													93	81	85					11																	74883496		2200	4293	6493	SO:0001583	missense	11309			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.854G>C	chr11.hg19:g.74883496G>C	ENSP00000289575:p.Gly285Ala		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	hg19	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	5.226	0.227121	0.09916	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.80033	0.41;-1.33;-1.33;-1.33;-1.33;-1.33;0.41	5.65	3.76	0.43208	Major facilitator superfamily domain, general substrate transporter (1);	0.406164	0.30347	N	0.009837	T	0.67979	0.2951	N	0.26092	0.79	0.19945	N	0.999945	B;B;B;B	0.19935	0.019;0.04;0.016;0.008	B;B;B;B	0.26969	0.034;0.075;0.02;0.015	T	0.51545	-0.8692	10	0.16896	T	0.51	.	10.9072	0.47086	0.0:0.1411:0.7122:0.1467	.	141;30;58;285	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	A	285;58;169;30;141;58;263	ENSP00000289575:G285A;ENSP00000341286:G58A;ENSP00000434112:G169A;ENSP00000432650:G30A;ENSP00000436324:G141A;ENSP00000389653:G58A;ENSP00000388912:G263A	ENSP00000289575:G285A	G	+	2	0	SLCO2B1	74561144	0.897000	0.30589	0.001000	0.08648	0.003000	0.03518	3.898000	0.56281	0.903000	0.36546	0.655000	0.94253	GGT		0.557	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		C	74883496	G	C	74883496	3	2	69	1	0	0	0	0	1	0	0	0	14733	1261	44	4	880	4	SLCO2B1	11	74883496	Missense_Mutation	SNP	G	TCGA-A4-7828-01A-11D-2136-08		74883496	60123020	20	4751											
GTSF1	121355	hgsc.bcm.edu	37	12	54857070	54857070	+	Silent	SNP	A	A	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr12:54857070A>G	ENST00000552397.1	-	4	1025	c.129T>C	c.(127-129)gaT>gaC	p.D43D	GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Silent_p.D43D			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	43						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TGCTTGCAACATCAGGATGAT	0.433																																																0													125	113	117					12																	54857070		2203	4300	6503	SO:0001819	synonymous_variant	121355			AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"family with sequence similarity 112, member B"	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.129T>C	chr12.hg19:g.54857070A>G			B3KQ60|Q0VGM4|Q8N778	Silent	SNP	ENST00000552397.1	hg19	CCDS8881.1																																																																																				0.433	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	NM_144594		G	54857070	A	G	54857070	2	3	69	1	0	0	0	0	0	0	0	1	6888	214	8	3		3	GTSF1	12	54857070	Silent	SNP	A	TCGA-A4-7828-01A-11D-2136-08		54857070	78994825	21	4752											
COCH	1690	hgsc.bcm.edu	37	14	31353851	31353851	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr14:31353851A>C	ENST00000396618.3	+	9	778	c.722A>C	c.(721-723)aAt>aCt	p.N241T	COCH_ENST00000216361.4_Missense_Mutation_p.N241T|COCH_ENST00000475087.1_Missense_Mutation_p.N241T|RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000460581.2_Missense_Mutation_p.N129T|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.N48T|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	241	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AGAGGGGGTAATTCCAATACA	0.358																																																0													69	72	71					14																	31353851		2203	4299	6502	SO:0001583	missense	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.722A>C	chr14.hg19:g.31353851A>C	ENSP00000379862:p.Asn241Thr		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	hg19	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.373608|4.373608	0.82573|0.82573	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000468826|ENST00000216361;ENST00000396618;ENST00000475087;ENST00000555881;ENST00000460581;ENST00000542225;ENST00000382493	.|D;D;D;D;D;D	.|0.83075	.|-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.78|5.78	5.78|5.78	0.91487|0.91487	.|von Willebrand factor, type A (3);	.|0.040966	.|0.85682	.|D	.|0.000000	D|D	0.89114|0.89114	0.6623|0.6623	M|M	0.64676|0.64676	1.99|1.99	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.64830	.|0.994;0.992;0.975	.|D;P;P	.|0.67231	.|0.95;0.87;0.819	D|D	0.88337|0.88337	0.2972|0.2972	5|10	.|0.39692	.|T	.|0.17	-22.9226|-22.9226	16.1145|16.1145	0.81295|0.81295	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|48;241;241	.|E7EN67;Q96IU6;O43405	.|.;.;COCH_HUMAN	L|T	81|241;241;241;123;129;129;48	.|ENSP00000216361:N241T;ENSP00000379862:N241T;ENSP00000451528:N241T;ENSP00000452569:N123T;ENSP00000451713:N129T;ENSP00000371933:N48T	.|ENSP00000216361:N241T	I|N	+|+	1|2	0|0	COCH|COCH	30423602|30423602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.474000|8.474000	0.90413|0.90413	2.205000|2.205000	0.71048|0.71048	0.454000|0.454000	0.30748|0.30748	ATT|AAT		0.358	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		C	31353851	A	C	31353851	3	2	69	1	0	0	0	0	1	0	0	0	3658	101	4	5	752	5	COCH	14	31353851	Missense_Mutation	SNP	A	TCGA-A4-7828-01A-11D-2136-08		31353851	75995689	22	4753											
CCDC57	284001	hgsc.bcm.edu	37	17	80129603	80129603	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr17:80129603C>G	ENST00000389641.4	-	12	1892	c.1856G>C	c.(1855-1857)aGc>aCc	p.S619T	CCDC57_ENST00000392347.1_Missense_Mutation_p.S619T|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.S619T			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	619										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GGTGCGGACGCTGGGCTGAGA	0.478																																																0													95	99	98					17																	80129603		1929	4143	6072	SO:0001583	missense	284001			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1856G>C	chr17.hg19:g.80129603C>G	ENSP00000374292:p.Ser619Thr		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	hg19		.	.	.	.	.	.	.	.	.	.	C	10.52	1.371836	0.24857	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.24538	3.02;3.02;1.85	2.92	-1.57	0.08506	.	2.029070	0.02447	N	0.085210	T	0.23846	0.0577	L	0.57536	1.79	0.09310	N	0.999995	P;P	0.44816	0.844;0.572	B;B	0.41088	0.347;0.122	T	0.19257	-1.0311	10	0.22109	T	0.4	5.4141	3.303	0.06989	0.0:0.3889:0.2116:0.3995	.	619;619	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	T	619;619;127;619	ENSP00000374292:S619T;ENSP00000376158:S619T;ENSP00000376154:S619T	ENSP00000315967:S127T	S	-	2	0	CCDC57	77722892	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.431000	0.06965	-0.298000	0.08921	0.561000	0.74099	AGC		0.478	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		G	80129603	C	G	80129603	3	3	69	1	0	0	0	0	1	0	0	0	2829	797	28	4	915	4	CCDC57	17	80129603	Missense_Mutation	SNP	C	TCGA-A4-7828-01A-11D-2136-08		80129603	1065607	23	4754											
EPB41L3	23136	hgsc.bcm.edu	37	18	5416056	5416056	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr18:5416056T>A	ENST00000341928.2	-	13	2168	c.1828A>T	c.(1828-1830)Aac>Tac	p.N610Y	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N610Y	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	610	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCAGAAAGGTTGGGGAAAGAG	0.532																																																0													157	126	136					18																	5416056		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1828A>T	chr18.hg19:g.5416056T>A	ENSP00000343158:p.Asn610Tyr		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	hg19	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.558267	0.45590	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	T;T	0.81415	-1.49;-1.49	5.74	4.55	0.56014	.	0.102804	0.64402	D	0.000003	T	0.77377	0.4121	L	0.57536	1.79	0.80722	D	1	P	0.49447	0.924	B	0.41088	0.347	T	0.78593	-0.2144	10	0.72032	D	0.01	.	12.8348	0.57767	0.0:0.0:0.1364:0.8636	.	610	Q9Y2J2	E41L3_HUMAN	Y	610	ENSP00000343158:N610Y;ENSP00000341138:N610Y	ENSP00000343158:N610Y	N	-	1	0	EPB41L3	5406056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.743000	0.62110	0.958000	0.37956	0.460000	0.39030	AAC		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		A	5416056	T	A	5416056	3	1	69	1	0	0	0	0	1	0	0	0	5156	1812	63	5	1475	5	EPB41L3	18	5416056	Missense_Mutation	SNP	T	TCGA-A4-7828-01A-11D-2136-08		5416056	72661192	24	4755											
TMEM205	374882	hgsc.bcm.edu	37	19	11453637	11453637	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr19:11453637G>T	ENST00000354882.5	-	3	850	c.424C>A	c.(424-426)Cag>Aag	p.Q142K	TMEM205_ENST00000586218.1_Missense_Mutation_p.Q81K|TMEM205_ENST00000586956.1_Missense_Mutation_p.Q142K|TMEM205_ENST00000589555.1_Missense_Mutation_p.Q142K|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000588560.1_Missense_Mutation_p.Q142K|CCDC159_ENST00000588790.1_5'Flank|TMEM205_ENST00000586590.1_Missense_Mutation_p.Q142K|TMEM205_ENST00000593256.2_Missense_Mutation_p.Q142K|TMEM205_ENST00000447337.1_Missense_Mutation_p.Q142K|TMEM205_ENST00000587948.1_Missense_Mutation_p.Q142K			Q6UW68	TM205_HUMAN	transmembrane protein 205	142						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TCTCGCAGCTGGCGGTAGGGA	0.627																																																0													94	85	88					19																	11453637		2203	4300	6503	SO:0001583	missense	374882			AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.424C>A	chr19.hg19:g.11453637G>T	ENSP00000346954:p.Gln142Lys			Missense_Mutation	SNP	ENST00000354882.5	hg19	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	G	6.199	0.404917	0.11754	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	4.96	3.9	0.45041	.	0.240493	0.34245	U	0.004140	T	0.34250	0.0891	L	0.36672	1.1	0.30403	N	0.779844	B	0.12013	0.005	B	0.09377	0.004	T	0.26224	-1.0109	9	0.06365	T	0.9	-4.5936	14.6711	0.68945	0.0:0.1463:0.8537:0.0	.	142	Q6UW68	TM205_HUMAN	K	142	.	ENSP00000346954:Q142K	Q	-	1	0	TMEM205	11314637	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.726000	0.54977	1.193000	0.43086	0.655000	0.94253	CAG		0.627	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536		T	11453637	G	T	11453637	3	4	69	1	0	0	0	0	1	0	0	0	16135	1357	47	4	149	4	TMEM205	19	11453637	Missense_Mutation	SNP	G	TCGA-A4-7828-01A-11D-2136-08		11453637	47675346	25	4756											
ZNF813	126017	hgsc.bcm.edu	37	19	53995130	53995130	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr19:53995130T>G	ENST00000396403.4	+	4	1772	c.1644T>G	c.(1642-1644)gaT>gaG	p.D548E	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATACTGGAGATAAACCTTACA	0.378																																																0													48	51	50					19																	53995130		2198	4297	6495	SO:0001583	missense	126017			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1644T>G	chr19.hg19:g.53995130T>G	ENSP00000379684:p.Asp548Glu			Missense_Mutation	SNP	ENST00000396403.4	hg19	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	t	0.013	-1.629910	0.00813	.	.	ENSG00000198346	ENST00000396403	T	0.11063	2.81	1.32	-2.63	0.06133	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.01277	-0.915	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49943	-0.8885	9	0.02654	T	1	.	7.8524	0.29462	0.0:0.0:0.5868:0.4132	.	548	Q6ZN06	ZN813_HUMAN	E	548	ENSP00000379684:D548E	ENSP00000379684:D548E	D	+	3	2	ZNF813	58686942	0.288000	0.24324	0.030000	0.17652	0.043000	0.13939	0.064000	0.14437	-1.341000	0.02225	-1.294000	0.01345	GAT		0.378	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		G	53995130	T	G	53995130	3	3	69	1	0	0	0	0	1	0	0	0	18180	1403	49	5	1654	5	ZNF813	19	53995130	Missense_Mutation	SNP	T	TCGA-A4-7828-01A-11D-2136-08	42541493	53995130	5133853	26	4757											
ISOC2	79763	hgsc.bcm.edu	37	19	55966664	55966664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr19:55966664G>A	ENST00000425675.2	-	4	442	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	ISOC2_ENST00000438389.2_Nonsense_Mutation_p.Q58*|ISOC2_ENST00000085068.3_Nonsense_Mutation_p.Q144*			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	128					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		ACATGGACCTGCAGCCCCCGG	0.662																																																0													32	34	33					19																	55966664		2203	4300	6503	SO:0001587	stop_gained	79763			AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.382C>T	chr19.hg19:g.55966664G>A	ENSP00000401726:p.Gln128*		Q6ZN91|Q9H5G0	Nonsense_Mutation	SNP	ENST00000425675.2	hg19	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324290	0.95708	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	3.62	2.44	0.29823	.	0.212717	0.38436	N	0.001695	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-16.1072	10.4505	0.44520	0.0:0.2009:0.7991:0.0	.	.	.	.	X	144;128;58	.	ENSP00000085068:Q144X	Q	-	1	0	ISOC2	60658476	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.156000	0.50708	1.977000	0.57605	0.486000	0.48141	CAG		0.662	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		A	55966664	G	A	55966664	4	1	69	1	0	0	0	0	0	1	0	0	7865	1328	46	2	247	2	ISOC2	19	55966664	Nonsense_Mutation	SNP	G	TCGA-A4-7828-01A-11D-2136-08	1971534	55966664	3162319	27	4758											
PTPRT	11122	hgsc.bcm.edu	37	20	41306544	41306544	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chr20:41306544G>T	ENST00000373187.1	-	7	1114	c.1115C>A	c.(1114-1116)cCg>cAg	p.P372Q	PTPRT_ENST00000373193.3_Missense_Mutation_p.P372Q|PTPRT_ENST00000373198.4_Missense_Mutation_p.P372Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.P372Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.P372Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.P372Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.P372Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	372	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGCCCTGGCGGTCCCGTACC	0.542																																																0													87	87	87					20																	41306544		1919	4125	6044	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1115C>A	chr20.hg19:g.41306544G>T	ENSP00000362283:p.Pro372Gln		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	hg19	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737618	0.49045	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	L	0.29908	0.895	0.58432	D	0.999991	D;D	0.56746	0.971;0.977	P;P	0.55391	0.775;0.772	T	0.78523	-0.2171	10	0.28530	T	0.3	.	19.1814	0.93625	0.0:0.0:1.0:0.0	.	372;372	O14522-1;O14522	.;PTPRT_HUMAN	Q	372	ENSP00000362286:P372Q;ENSP00000362283:P372Q;ENSP00000362289:P372Q;ENSP00000348408:P372Q;ENSP00000362294:P372Q;ENSP00000362280:P372Q;ENSP00000362297:P372Q	ENSP00000348408:P372Q	P	-	2	0	PTPRT	40739958	1.000000	0.71417	0.973000	0.42090	0.948000	0.59901	5.469000	0.66749	2.705000	0.92388	0.655000	0.94253	CCG		0.542	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			T	41306544	G	T	41306544	3	4	69	1	0	0	0	0	1	0	0	0	12818	1116	39	4	3371	4	PTPRT	20	41306544	Missense_Mutation	SNP	G	TCGA-A4-7828-01A-11D-2136-08		41306544	21718976	28	4759											
RGAG1	57529	hgsc.bcm.edu	37	X	109695056	109695056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrX:109695056delG	ENST00000465301.2	+	3	1457	c.1211delG	c.(1210-1212)agafs	p.R404fs	RGAG1_ENST00000540313.1_Frame_Shift_Del_p.R404fs	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	404										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCACCAGTAAGAGCTTTAGAT	0.502																																																0													195	202	200					X																	109695056		2203	4300	6503	SO:0001589	frameshift_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1211delG	chrX.hg19:g.109695056delG	ENSP00000419786:p.Arg404fs		Q9P2M8	Frame_Shift_Del	DEL	ENST00000465301.2	hg19	CCDS14552.1																																																																																				0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		-	109695056	G	-	109695056	7	5	69	1	0	1	0	1	0	0	0	0	13280	942	33	0	1213	0	RGAG1	23	109695056	Frame_Shift_Del	DEL	G	TCGA-A4-7828-01A-11D-2136-08		109695056	45575504	29	4760											
MBNL3	55796	hgsc.bcm.edu	37	X	131540269	131540269	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrX:131540269T>A	ENST00000370853.3	-	2	407	c.329A>T	c.(328-330)cAa>cTa	p.Q110L	MBNL3_ENST00000370849.3_Missense_Mutation_p.Q60L|MBNL3_ENST00000370844.1_Missense_Mutation_p.Q14L|MBNL3_ENST00000394311.2_Missense_Mutation_p.Q14L|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370839.3_Missense_Mutation_p.Q110L|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370857.3_Missense_Mutation_p.Q110L|MBNL3_ENST00000538204.1_Missense_Mutation_p.Q60L|MBNL3_ENST00000473364.1_5'UTR	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	110					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TGATGACATTTGAGCGTTTTG	0.453																																																0													144	116	125					X																	131540269		2203	4300	6503	SO:0001583	missense	55796			AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"Zinc fingers, CCCH-type domain containing"	20564	protein-coding gene	gene with protein product		300413	"muscleblind-like 3 (Drosophila)"			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.329A>T	chrX.hg19:g.131540269T>A	ENSP00000359890:p.Gln110Leu		Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	hg19	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534641	0.27475	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000436215;ENST00000421707	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.57	5.57	0.84162	.	0.086244	0.49916	D	0.000138	T	0.46328	0.1387	M	0.66939	2.045	0.49483	D	0.999793	B;B;B;P;P	0.35272	0.404;0.246;0.246;0.454;0.493	B;B;B;B;B	0.42771	0.287;0.346;0.286;0.397;0.157	T	0.38373	-0.9664	10	0.07644	T	0.81	-4.1668	14.7499	0.69516	0.0:0.0:0.0:1.0	.	60;110;110;60;14	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	L	14;60;110;110;60;110;14;14;14	ENSP00000377848:Q14L;ENSP00000439618:Q60L;ENSP00000359894:Q110L;ENSP00000359890:Q110L;ENSP00000359886:Q60L;ENSP00000359876:Q110L;ENSP00000359881:Q14L;ENSP00000406014:Q14L;ENSP00000402128:Q14L	ENSP00000359876:Q110L	Q	-	2	0	MBNL3	131367950	1.000000	0.71417	0.905000	0.35620	0.731000	0.41821	4.662000	0.61525	1.864000	0.54056	0.486000	0.48141	CAA		0.453	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		A	131540269	T	A	131540269	3	1	69	1	0	0	0	0	1	0	0	0	9357	1812	63	5	824	5	MBNL3	23	131540269	Missense_Mutation	SNP	T	TCGA-A4-7828-01A-11D-2136-08	21845213	131540269	23730291	30	4761											
ATP6AP1	537	hgsc.bcm.edu	37	X	153657422	153657422	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7828-01A-11D-2136-08	TCGA-A4-7828-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	89b510b4-b46f-44f1-b973-0e7b01c3afd1	df0c98a4-c394-4d62-ac84-e6893a743883	g.chrX:153657422C>A	ENST00000369762.2	+	2	251	c.190C>A	c.(190-192)Cat>Aat	p.H64N		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	64					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCGACACTCATGAAGGCCA	0.617																																																0													87	75	79					X																	153657422		2203	4300	6503	SO:0001583	missense	537			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.190C>A	chrX.hg19:g.153657422C>A	ENSP00000358777:p.His64Asn		A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	hg19	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756732	0.49362	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000449556	.	.	.	4.74	4.74	0.60224	.	0.240499	0.42420	D	0.000718	T	0.49133	0.1539	M	0.70275	2.135	0.09310	N	0.999994	B;B	0.30439	0.279;0.178	B;B	0.35813	0.18;0.211	T	0.43491	-0.9388	9	0.28530	T	0.3	-20.593	12.2641	0.54668	0.0:1.0:0.0:0.0	.	24;64	B3KR70;Q15904	.;VAS1_HUMAN	N	64	.	ENSP00000358777:H64N	H	+	1	0	ATP6AP1	153310616	0.775000	0.28604	0.966000	0.40874	0.457000	0.32468	1.869000	0.39519	1.939000	0.56221	0.529000	0.55759	CAT		0.617	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		A	153657422	C	A	153657422	3	1	69	1	0	0	0	0	1	0	0	0	1165	826	29	4	196	4	ATP6AP1	23	153657422	Missense_Mutation	SNP	C	TCGA-A4-7828-01A-11D-2136-08	22117153	153657422	1613138	31	4762											
PRDM16	63976	hgsc.bcm.edu	37	1	3342300	3342300	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr1:3342300A>G	ENST00000270722.5	+	13	3144	c.3095A>G	c.(3094-3096)cAc>cGc	p.H1032R	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.H1032R|PRDM16_ENST00000442529.2_Missense_Mutation_p.H1031R|PRDM16_ENST00000511072.1_Missense_Mutation_p.H1033R|PRDM16_ENST00000514189.1_Missense_Mutation_p.H1032R|PRDM16_ENST00000441472.2_Missense_Mutation_p.H1031R|PRDM16_ENST00000378398.3_Missense_Mutation_p.H1032R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1032	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AAGCACGAGCACGAGAACGCA	0.667			T	EVI1	"MDS, AML"																																		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													60	69	66					1																	3342300		2112	4203	6315	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3095A>G	chr1.hg19:g.3342300A>G	ENSP00000270722:p.His1032Arg		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	hg19	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904180	0.52333	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	4.02	4.02	0.46733	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	U	0.000113	T	0.33702	0.0872	M	0.68317	2.08	0.51012	D	0.999906	D;D;B;D	0.60575	0.973;0.988;0.369;0.979	D;D;B;D	0.72982	0.921;0.979;0.364;0.953	T	0.08659	-1.0711	10	0.66056	D	0.02	.	12.9149	0.58200	1.0:0.0:0.0:0.0	.	1032;1032;1031;1031	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	R	1033;1032;1031;1031;1032;1032;1032;848;848;840	ENSP00000426975:H1033R;ENSP00000367651:H1032R;ENSP00000407968:H1031R;ENSP00000405253:H1031R;ENSP00000367643:H1032R;ENSP00000421400:H1032R;ENSP00000270722:H1032R;ENSP00000422504:H848R;ENSP00000425796:H840R	ENSP00000270722:H1032R	H	+	2	0	PRDM16	3332160	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.051000	0.76627	1.451000	0.47736	0.379000	0.24179	CAC		0.667	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		G	3342300	A	G	3342300	3	3	70	1	0	0	0	0	1	0	0	0	12462	159	6	3	3145	3	PRDM16	1	3342300	Missense_Mutation	SNP	A	TCGA-A4-7915-01A-11D-2201-08		3342300	245908321	1	4763											
TAS1R1	80835	hgsc.bcm.edu	37	1	6639491	6639491	+	Silent	SNP	C	C	T			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr1:6639491C>T	ENST00000333172.6	+	6	2566	c.2373C>T	c.(2371-2373)gcC>gcT	p.A791A	TAS1R1_ENST00000351136.3_Silent_p.A537A|TAS1R1_ENST00000328191.4_3'UTR|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	791					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGCCTGCGGCCAACATGATGG	0.587																																																0													97	86	90					1																	6639491		2203	4300	6503	SO:0001819	synonymous_variant	80835				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2373C>T	chr1.hg19:g.6639491C>T			B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	hg19	CCDS81.1																																																																																				0.587	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			T	6639491	C	T	6639491	2	4	70	1	0	0	0	0	0	0	0	1	15567	594	21	2		2	TAS1R1	1	6639491	Silent	SNP	C	TCGA-A4-7915-01A-11D-2201-08	3297191	6639491	242611130	2	4764											
COL8A2	1296	hgsc.bcm.edu	37	1	36564488	36564488	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr1:36564488T>C	ENST00000397799.1	-	4	1018	c.794A>G	c.(793-795)gAg>gGg	p.E265G	COL8A2_ENST00000303143.4_Missense_Mutation_p.E265G|COL8A2_ENST00000481785.1_Missense_Mutation_p.E200G			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	265	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCTCCTGGCTCCCCCCTGGG	0.657																																																0													14	17	16					1																	36564488		2193	4289	6482	SO:0001583	missense	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.794A>G	chr1.hg19:g.36564488T>C	ENSP00000380901:p.Glu265Gly		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	hg19	CCDS403.1	.	.	.	.	.	.	.	.	.	.	T	6.827	0.521652	0.13005	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.93906	-3.31;-3.31;-3.31	3.91	3.91	0.45181	.	0.198447	0.43747	D	0.000533	D	0.88742	0.6519	L	0.52206	1.635	0.46298	D	0.998977	P	0.44877	0.845	B	0.40329	0.326	D	0.84976	0.0885	10	0.18276	T	0.48	.	8.5265	0.33309	0.1725:0.0:0.0:0.8275	.	265	P25067	CO8A2_HUMAN	G	265;265;200	ENSP00000305913:E265G;ENSP00000380901:E265G;ENSP00000436433:E200G	ENSP00000305913:E265G	E	-	2	0	COL8A2	36337075	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	3.987000	0.56944	1.639000	0.50556	0.334000	0.21626	GAG		0.657	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		C	36564488	T	C	36564488	3	2	70	1	0	0	0	0	1	0	0	0	3708	1551	54	3	1321	3	COL8A2	1	36564488	Missense_Mutation	SNP	T	TCGA-A4-7915-01A-11D-2201-08	29924997	36564488	212686133	3	4765											
MCOLN2	255231	hgsc.bcm.edu	37	1	85431299	85431299	+	Missense_Mutation	SNP	C	C	A	rs527268491		TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr1:85431299C>A	ENST00000370608.3	-	2	237	c.170G>T	c.(169-171)cGa>cTa	p.R57L	MCOLN2_ENST00000284027.5_Missense_Mutation_p.R29L|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	57					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GCGTCTGGCTCGGTATTTTTC	0.418																																																0													102	102	102					1																	85431299		2203	4300	6503	SO:0001583	missense	255231			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.170G>T	chr1.hg19:g.85431299C>A	ENSP00000359640:p.Arg57Leu		A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	hg19	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264250	0.95399	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.57107	0.42;0.42	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.72894	2.215	0.58432	D	0.999994	D	0.89917	1.0	D	0.65987	0.94	T	0.66212	-0.5980	10	0.54805	T	0.06	-39.7485	20.5827	0.99408	0.0:1.0:0.0:0.0	.	57	Q8IZK6	MCLN2_HUMAN	L	57;29	ENSP00000359640:R57L;ENSP00000284027:R29L	ENSP00000284027:R29L	R	-	2	0	MCOLN2	85203887	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.568000	0.60857	2.941000	0.99782	0.655000	0.94253	CGA		0.418	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		A	85431299	C	A	85431299	3	1	70	1	0	0	0	0	1	0	0	0	9398	884	31	4	1582	4	MCOLN2	1	85431299	Missense_Mutation	SNP	C	TCGA-A4-7915-01A-11D-2201-08	48866811	85431299	163819322	4	4766											
PAPPA2	60676	hgsc.bcm.edu	37	1	176809321	176809321	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr1:176809321G>A	ENST00000367662.3	+	22	6379	c.5215G>A	c.(5215-5217)Gat>Aat	p.D1739N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1739				D -> N (in Ref. 6; CAC11134). {ECO:0000305}.	bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTCCAAGCAGATGGTTGGTG	0.507																																																0													155	155	155					1																	176809321		2032	4183	6215	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5215G>A	chr1.hg19:g.176809321G>A	ENSP00000356634:p.Asp1739Asn		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	hg19	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437435	0.96168	.	.	ENSG00000116183	ENST00000367662	D	0.91894	-2.93	5.44	5.44	0.79542	Notch domain (2);	0.000000	0.85682	D	0.000000	D	0.95674	0.8593	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95767	0.8805	10	0.66056	D	0.02	-17.6405	18.8699	0.92309	0.0:0.0:1.0:0.0	.	1739	Q9BXP8	PAPP2_HUMAN	N	1739	ENSP00000356634:D1739N	ENSP00000356634:D1739N	D	+	1	0	PAPPA2	175075944	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.729000	0.91490	2.544000	0.85801	0.655000	0.94253	GAT		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			A	176809321	G	A	176809321	3	1	70	1	0	0	0	0	1	0	0	0	11435	942	33	2	5350	2	PAPPA2	1	176809321	Missense_Mutation	SNP	G	TCGA-A4-7915-01A-11D-2201-08	91378022	176809321	72441300	5	4767											
GREB1	9687	hgsc.bcm.edu	37	2	11716612	11716612	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr2:11716612T>A	ENST00000381486.2	+	5	888	c.588T>A	c.(586-588)aaT>aaA	p.N196K	GREB1_ENST00000234142.5_Missense_Mutation_p.N196K|GREB1_ENST00000263834.5_Missense_Mutation_p.N196K|GREB1_ENST00000389825.3_Missense_Mutation_p.N86K|GREB1_ENST00000381483.2_Missense_Mutation_p.N196K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	196						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGGTCCGTAATGCACAAGGGA	0.478																																					Ovarian(39;850 945 2785 23371 33093)											0													126	120	122					2																	11716612		2203	4300	6503	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.588T>A	chr2.hg19:g.11716612T>A	ENSP00000370896:p.Asn196Lys		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520760	0.64747	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;D;D;D;T	0.82167	3.02;-1.58;-1.58;-1.58;3.02	5.08	-3.82	0.04281	.	0.000000	0.85682	D	0.000000	D	0.84428	0.5470	M	0.66939	2.045	0.58432	D	0.99999	P;D;P;D	0.54772	0.94;0.968;0.897;0.959	P;P;P;P	0.54889	0.625;0.763;0.465;0.526	T	0.82952	-0.0202	10	0.72032	D	0.01	-8.2171	13.0658	0.59032	0.0:0.4458:0.0:0.5542	.	196;86;196;196	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	K	196;196;86;196;196	ENSP00000370896:N196K;ENSP00000263834:N196K;ENSP00000374475:N86K;ENSP00000370892:N196K;ENSP00000234142:N196K	ENSP00000234142:N196K	N	+	3	2	GREB1	11634063	0.667000	0.27484	0.014000	0.15608	0.860000	0.49131	-0.199000	0.09491	-1.399000	0.02063	-1.139000	0.01908	AAT		0.478	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11716612	T	A	11716612	3	1	70	1	0	0	0	0	1	0	0	0	6762	1461	51	5	602	5	GREB1	2	11716612	Missense_Mutation	SNP	T	TCGA-A4-7915-01A-11D-2201-08		11716612	231482761	6	4768											
GRM2	2912	hgsc.bcm.edu	37	3	51750001	51750001	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr3:51750001C>T	ENST00000395052.3	+	4	2446	c.2212C>T	c.(2212-2214)Ctc>Ttc	p.L738F	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	738					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAATGTGCTCCTCATCGCGCT	0.577																																																0													120	94	103					3																	51750001		2203	4300	6503	SO:0001583	missense	2912			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2212C>T	chr3.hg19:g.51750001C>T	ENSP00000378492:p.Leu738Phe		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	hg19	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937162	0.73557	.	.	ENSG00000164082	ENST00000395052	D	0.96365	-3.99	5.14	5.14	0.70334	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98917	1.0782	10	0.87932	D	0	.	10.6161	0.45451	0.0:0.8753:0.0:0.1247	.	738	Q14416	GRM2_HUMAN	F	738	ENSP00000378492:L738F	ENSP00000378492:L738F	L	+	1	0	GRM2	51725041	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	5.989000	0.70587	2.567000	0.86603	0.549000	0.68633	CTC		0.577	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			T	51750001	C	T	51750001	3	4	70	1	0	0	0	0	1	0	0	0	6799	681	24	2	2222	2	GRM2	3	51750001	Missense_Mutation	SNP	C	TCGA-A4-7915-01A-11D-2201-08		51750001	146272429	7	4769											
CADPS	8618	hgsc.bcm.edu	37	3	62477094	62477096	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr3:62477094_62477096delAAC	ENST00000383710.4	-	21	3293_3295	c.2944_2946delGTT	c.(2944-2946)gttdel	p.V982del	CADPS_ENST00000283269.9_In_Frame_Del_p.V992del|CADPS_ENST00000357948.3_In_Frame_Del_p.V952del	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	982	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCACATATCTAACAACAAGTGGG	0.419																																																0																																										SO:0001651	inframe_deletion	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2944_2946delGTT	chr3.hg19:g.62477097_62477099delAAC	ENSP00000373215:p.Val982del		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	In_Frame_Del	DEL	ENST00000383710.4	hg19	CCDS46858.1																																																																																				0.419	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		-	62477096	AAC	-	62477094	7	5	70	1	0	1	0	1	0	0	0	0	2572	349	13	0	1155	0	CADPS	3	62477094	In_Frame_Del	DEL	AAC	TCGA-A4-7915-01A-11D-2201-08	10727093	62477094	135545336	8	4770											
KIAA2018	205717	hgsc.bcm.edu	37	3	113376859	113376859	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr3:113376859C>A	ENST00000478658.1	-	5	3687	c.3670G>T	c.(3670-3672)Gca>Tca	p.A1224S	KIAA2018_ENST00000316407.4_Missense_Mutation_p.A1224S|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1224						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGTAAAGATGCATTTGATGTT	0.418																																																0													86	83	84					3																	113376859		1945	4164	6109	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3670G>T	chr3.hg19:g.113376859C>A	ENSP00000420721:p.Ala1224Ser		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	hg19	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	3.356	-0.131444	0.06753	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.14022	2.54;2.54	5.67	3.84	0.44239	.	0.282276	0.34386	N	0.004013	T	0.05547	0.0146	N	0.14661	0.345	0.28041	N	0.933755	B	0.15141	0.012	B	0.12156	0.007	T	0.38950	-0.9637	10	0.07030	T	0.85	-2.1301	2.9175	0.05757	0.3149:0.4409:0.1391:0.1051	.	1224	Q68DE3	K2018_HUMAN	S	1224	ENSP00000320794:A1224S;ENSP00000420721:A1224S	ENSP00000320794:A1224S	A	-	1	0	KIAA2018	114859549	0.971000	0.33674	0.911000	0.35937	0.515000	0.34225	0.248000	0.18198	0.701000	0.31803	0.561000	0.74099	GCA		0.418	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		A	113376859	C	A	113376859	3	1	70	1	0	0	0	0	1	0	0	0	8270	710	25	4	3071	4	KIAA2018	3	113376859	Missense_Mutation	SNP	C	TCGA-A4-7915-01A-11D-2201-08	50899765	113376859	84645571	9	4771											
ADAD1	132612	hgsc.bcm.edu	37	4	123305047	123305047	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr4:123305047C>G	ENST00000296513.2	+	5	640	c.455C>G	c.(454-456)tCc>tGc	p.S152C	ADAD1_ENST00000388724.2_Missense_Mutation_p.S152C|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.S134C	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	152	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGTCTAGATCCAATGCAGCA	0.368																																																0													123	120	121					4																	123305047		2203	4300	6503	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.455C>G	chr4.hg19:g.123305047C>G	ENSP00000296513:p.Ser152Cys		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	hg19	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993627	0.74703	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.84	5.84	0.93424	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.354445	0.30455	N	0.009587	T	0.82181	0.4981	L	0.29908	0.895	0.33397	D	0.576823	D;D	0.69078	0.996;0.997	D;D	0.66351	0.936;0.943	D	0.85408	0.1135	10	0.54805	T	0.06	-7.2127	18.912	0.92489	0.0:1.0:0.0:0.0	.	152;152	Q96M93-2;Q96M93	.;ADAD1_HUMAN	C	152;152;152;152;134	ENSP00000390510:S152C;ENSP00000296513:S152C;ENSP00000397254:S152C;ENSP00000373376:S152C;ENSP00000373377:S134C	ENSP00000296513:S152C	S	+	2	0	ADAD1	123524497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.447000	0.35101	2.768000	0.95171	0.579000	0.79373	TCC		0.368	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		G	123305047	C	G	123305047	3	3	70	1	0	0	0	0	1	0	0	0	231	855	30	4	465	4	ADAD1	4	123305047	Missense_Mutation	SNP	C	TCGA-A4-7915-01A-11D-2201-08		123305047	67849229	10	4772											
C5orf40	408263	hgsc.bcm.edu	37	5	156769880	156769880	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr5:156769880C>A	ENST00000312349.4	-	2	852	c.665G>T	c.(664-666)tGt>tTt	p.C222F	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	222						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TCATTCCCCACAATGAGGCAG	0.547											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													32	33	33					5																	156769880		2203	4300	6503	SO:0001583	missense	408263			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"Fibronectin type III domain containing"	33547	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 40"	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.665G>T	chr5.hg19:g.156769880C>A	ENSP00000310594:p.Cys222Phe	1781	A8K0Y6	Missense_Mutation	SNP	ENST00000312349.4	hg19	CCDS4337.1	.	.	.	.	.	.	.	.	.	.	C	1.582	-0.531287	0.04112	.	.	ENSG00000172568	ENST00000312349	T	0.22134	1.97	5.08	-2.29	0.06805	.	1.364320	0.05031	N	0.474544	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30650	-0.9971	10	0.10111	T	0.7	-9.222	4.6072	0.12383	0.4398:0.2011:0.0:0.3591	.	222	Q8TBE3	FNDC9_HUMAN	F	222	ENSP00000310594:C222F	ENSP00000310594:C222F	C	-	2	0	FNDC9	156702458	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.134000	0.03228	-0.447000	0.07138	-0.339000	0.08088	TGT		0.547	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		A	156769880	C	A	156769880	3	1	70	1	0	0	0	0	1	0	0	0	2301	478	17	4	13	4	C5orf40	5	156769880	Missense_Mutation	SNP	C	TCGA-A4-7915-01A-11D-2201-08		156769880	24145380	11	4773											
SLC35D3	340146	hgsc.bcm.edu	37	6	137245376	137245376	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr6:137245376G>A	ENST00000331858.4	+	2	958	c.793G>A	c.(793-795)Gcc>Acc	p.A265T		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	265					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GAAGAGCATCGCCACCATCAC	0.592																																																0													77	64	68					6																	137245376		2203	4300	6503	SO:0001583	missense	340146				CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"Solute carriers"	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.793G>A	chr6.hg19:g.137245376G>A	ENSP00000333591:p.Ala265Thr		B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	hg19	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354459	0.82243	.	.	ENSG00000182747	ENST00000331858	T	0.64085	-0.08	5.68	5.68	0.88126	Domain of unknown function DUF250 (1);	0.056787	0.64402	D	0.000001	T	0.63034	0.2477	L	0.36672	1.1	0.58432	D	0.999995	D	0.67145	0.996	P	0.60682	0.878	T	0.58713	-0.7588	10	0.34782	T	0.22	-25.1818	19.7951	0.96477	0.0:0.0:1.0:0.0	.	265	Q5M8T2	S35D3_HUMAN	T	265	ENSP00000333591:A265T	ENSP00000333591:A265T	A	+	1	0	SLC35D3	137287069	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.777000	0.85628	2.698000	0.92095	0.561000	0.74099	GCC		0.592	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		A	137245376	G	A	137245376	3	1	70	1	0	0	0	0	1	0	0	0	14589	1087	38	1	799	1	SLC35D3	6	137245376	Missense_Mutation	SNP	G	TCGA-A4-7915-01A-11D-2201-08		137245376	33869691	12	4774											
IFNGR1	3459	hgsc.bcm.edu	37	6	137519461	137519461	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr6:137519461C>A	ENST00000367739.4	-	7	1298	c.1177G>T	c.(1177-1179)Gct>Tct	p.A393S	IFNGR1_ENST00000543628.1_Missense_Mutation_p.A365S	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	393					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GAGTTTAAAGCGATGCTGCCA	0.443																																																0													88	88	88					6																	137519461		2203	4300	6503	SO:0001583	missense	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1177G>T	chr6.hg19:g.137519461C>A	ENSP00000356713:p.Ala393Ser		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	hg19	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776120	0.31411	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.72394	-0.65;-0.49	6.06	-12.1	0.00011	.	2.161120	0.01880	N	0.037820	T	0.20577	0.0495	N	0.12182	0.205	0.09310	N	1	B;B	0.20164	0.031;0.042	B;B	0.22601	0.04;0.03	T	0.10917	-1.0609	10	0.27082	T	0.32	-0.1572	5.4548	0.16584	0.1953:0.5294:0.0993:0.176	.	365;393	F5H5M7;P15260	.;INGR1_HUMAN	S	393;365	ENSP00000356713:A393S;ENSP00000443282:A365S	ENSP00000356713:A393S	A	-	1	0	IFNGR1	137561154	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.897000	0.01603	-2.423000	0.00562	-1.202000	0.01658	GCT		0.443	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			A	137519461	C	A	137519461	3	1	70	1	0	0	0	0	1	0	0	0	7551	768	27	4	296	4	IFNGR1	6	137519461	Missense_Mutation	SNP	C	TCGA-A4-7915-01A-11D-2201-08	274085	137519461	33595606	13	4775											
LAMB1	3912	hgsc.bcm.edu	37	7	107572810	107572810	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr7:107572810G>A	ENST00000222399.6	-	28	4431	c.4201C>T	c.(4201-4203)Ccc>Tcc	p.P1401S	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Missense_Mutation_p.P1425S	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1401	Domain alpha.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.P1401T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCCCCTGGGGGTGTTCCACAG	0.592																																																1	Substitution - Missense(1)	lung(1)											67	64	65					7																	107572810		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4201C>T	chr7.hg19:g.107572810G>A	ENSP00000222399:p.Pro1401Ser		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	hg19	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918956	0.33908	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.29917	1.55;1.55	5.28	5.28	0.74379	.	.	.	.	.	T	0.24890	0.0604	L	0.37850	1.14	0.33891	D	0.637353	B;B	0.17667	0.023;0.014	B;B	0.17098	0.017;0.016	T	0.20042	-1.0287	9	0.45353	T	0.12	.	9.8304	0.40939	0.0744:0.1405:0.7851:0.0	.	1401;1425	P07942;G3XAI2	LAMB1_HUMAN;.	S	1425;1401	ENSP00000377191:P1425S;ENSP00000222399:P1401S	ENSP00000222399:P1401S	P	-	1	0	LAMB1	107360046	0.999000	0.42202	0.979000	0.43373	0.967000	0.64934	4.639000	0.61361	2.627000	0.88993	0.655000	0.94253	CCC		0.592	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107572810	G	A	107572810	3	1	70	1	0	0	0	0	1	0	0	0	8612	1261	44	2	1187	2	LAMB1	7	107572810	Missense_Mutation	SNP	G	TCGA-A4-7915-01A-11D-2201-08		107572810	51565853	14	4776											
PTPRZ1	5803	hgsc.bcm.edu	37	7	121653581	121653581	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr7:121653581G>T	ENST00000393386.2	+	12	4892	c.4481G>T	c.(4480-4482)aGt>aTt	p.S1494I	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1494					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCCTCAGACAGTCAAACTGGT	0.398																																																0													88	85	86					7																	121653581		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4481G>T	chr7.hg19:g.121653581G>T	ENSP00000377047:p.Ser1494Ile		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756857	0.49362	.	.	ENSG00000106278	ENST00000393386	T	0.54071	0.59	4.95	4.07	0.47477	.	0.299113	0.33057	N	0.005339	T	0.43456	0.1248	L	0.44542	1.39	0.80722	D	1	B	0.33379	0.41	B	0.35550	0.205	T	0.33394	-0.9870	10	0.37606	T	0.19	.	9.1534	0.36978	0.1675:0.0:0.8325:0.0	.	1494	P23471	PTPRZ_HUMAN	I	1494	ENSP00000377047:S1494I	ENSP00000377047:S1494I	S	+	2	0	PTPRZ1	121440817	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.448000	0.35112	1.215000	0.43411	0.555000	0.69702	AGT		0.398	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121653581	G	T	121653581	3	4	70	1	0	0	0	0	1	0	0	0	12820	1029	36	4	4527	4	PTPRZ1	7	121653581	Missense_Mutation	SNP	G	TCGA-A4-7915-01A-11D-2201-08	14080771	121653581	37485082	15	4777											
SCARA5	286133	hgsc.bcm.edu	37	8	27737097	27737097	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr8:27737097C>T	ENST00000354914.3	-	8	1825	c.1340G>A	c.(1339-1341)cGa>cAa	p.R447Q	SCARA5_ENST00000380385.2_Missense_Mutation_p.R222Q	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	447	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)	p.R447P(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TTGCCCGAATCGAGCTGTGCG	0.622																																																1	Substitution - Missense(1)	lung(1)											142	110	121					8																	27737097		2203	4300	6503	SO:0001583	missense	286133			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1340G>A	chr8.hg19:g.27737097C>T	ENSP00000346990:p.Arg447Gln		Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	hg19	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491434	0.44249	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.44482	0.92;0.92	4.87	1.96	0.26148	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.165261	0.40554	N	0.001077	T	0.28732	0.0712	L	0.38649	1.16	0.80722	D	1	B;B	0.22851	0.003;0.076	B;B	0.15870	0.003;0.014	T	0.07501	-1.0769	10	0.46703	T	0.11	.	7.6192	0.28175	0.0:0.6991:0.0:0.3009	.	222;447	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	Q	447;222	ENSP00000346990:R447Q;ENSP00000369746:R222Q	ENSP00000346990:R447Q	R	-	2	0	SCARA5	27793016	0.174000	0.23070	0.360000	0.25837	0.505000	0.33919	1.411000	0.34702	0.536000	0.28733	0.591000	0.81541	CGA		0.622	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		T	27737097	C	T	27737097	3	4	70	1	0	0	0	0	1	0	0	0	13886	884	31	1	155	1	SCARA5	8	27737097	Missense_Mutation	SNP	C	TCGA-A4-7915-01A-11D-2201-08		27737097	118626925	16	4778											
RAD21	5885	hgsc.bcm.edu	37	8	117862960	117862960	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr8:117862960G>A	ENST00000297338.2	-	12	1804	c.1517C>T	c.(1516-1518)cCa>cTa	p.P506L	RAD21_ENST00000523986.1_Missense_Mutation_p.P10L|RAD21_ENST00000518055.1_Missense_Mutation_p.P51L|RAD21_ENST00000517749.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	506	Pro-rich.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGGTTCTTCTGGGGGAAGCTC	0.378																																																0													131	130	130					8																	117862960		2203	4300	6503	SO:0001583	missense	5885			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1517C>T	chr8.hg19:g.117862960G>A	ENSP00000297338:p.Pro506Leu		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	hg19	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208572	0.58343	.	.	ENSG00000164754	ENST00000297338;ENST00000523986;ENST00000518055	T;T;T	0.80123	0.64;-1.34;-0.19	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	L	0.60455	1.87	0.80722	D	1	B	0.31318	0.319	B	0.27608	0.081	T	0.74262	-0.3722	10	0.22109	T	0.4	-6.1488	19.0827	0.93188	0.0:0.0:1.0:0.0	.	506	O60216	RAD21_HUMAN	L	506;10;51	ENSP00000297338:P506L;ENSP00000428513:P10L;ENSP00000428003:P51L	ENSP00000297338:P506L	P	-	2	0	RAD21	117932141	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.869000	0.87170	2.477000	0.83638	0.460000	0.39030	CCA		0.378	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		A	117862960	G	A	117862960	3	1	70	1	0	0	0	0	1	0	0	0	12987	1348	47	2	390	2	RAD21	8	117862960	Missense_Mutation	SNP	G	TCGA-A4-7915-01A-11D-2201-08	90125863	117862960	28501062	17	4779											
CCIN	881	hgsc.bcm.edu	37	9	36170395	36170395	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr9:36170395C>T	ENST00000335119.2	+	1	1007	c.896C>T	c.(895-897)gCt>gTt	p.A299V		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	299					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGAGTGTTTGCTTATATCATC	0.557																																																0													79	75	76					9																	36170395		2203	4300	6503	SO:0001583	missense	881			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.896C>T	chr9.hg19:g.36170395C>T	ENSP00000334996:p.Ala299Val		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	hg19	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502198	0.64298	.	.	ENSG00000185972	ENST00000335119	T	0.65732	-0.17	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.56097	D	0.000024	T	0.66577	0.2803	L	0.29908	0.895	0.39812	D	0.972727	D	0.63880	0.993	D	0.68192	0.956	T	0.59386	-0.7464	10	0.12766	T	0.61	.	15.9243	0.79603	0.0:1.0:0.0:0.0	.	299	Q13939	CALI_HUMAN	V	299	ENSP00000334996:A299V	ENSP00000334996:A299V	A	+	2	0	CCIN	36160395	0.997000	0.39634	1.000000	0.80357	0.954000	0.61252	4.483000	0.60264	2.839000	0.97877	0.655000	0.94253	GCT		0.557	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		T	36170395	C	T	36170395	3	4	70	1	0	0	0	0	1	0	0	0	2880	797	28	2	898	2	CCIN	9	36170395	Missense_Mutation	SNP	C	TCGA-A4-7915-01A-11D-2201-08		36170395	105043036	18	4780											
ANO5	203859	hgsc.bcm.edu	37	11	22294380	22294380	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr11:22294380C>A	ENST00000324559.8	+	19	2397	c.2080C>A	c.(2080-2082)Cct>Act	p.P694T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	694					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P694fs*7(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTTTGGCTCCTCTTCTTGC	0.378																																																1	Deletion - Frameshift(1)	breast(1)											150	131	138					11																	22294380		2203	4300	6503	SO:0001583	missense	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2080C>A	chr11.hg19:g.22294380C>A	ENSP00000315371:p.Pro694Thr			Missense_Mutation	SNP	ENST00000324559.8	hg19	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.087948	0.76642	.	.	ENSG00000171714	ENST00000324559	T	0.68025	-0.3	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.84606	0.5509	H	0.96748	3.875	0.80722	D	1	B	0.22276	0.067	B	0.39771	0.309	D	0.85101	0.0957	10	0.87932	D	0	.	19.9071	0.97012	0.0:1.0:0.0:0.0	.	694	Q75V66	ANO5_HUMAN	T	694	ENSP00000315371:P694T	ENSP00000315371:P694T	P	+	1	0	ANO5	22250956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.776000	0.95493	0.651000	0.88453	CCT		0.378	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		A	22294380	C	A	22294380	3	1	70	1	0	0	0	0	1	0	0	0	700	855	30	4	2154	4	ANO5	11	22294380	Missense_Mutation	SNP	C	TCGA-A4-7915-01A-11D-2201-08		22294380	112712136	19	4781											
RCOR2	283248	hgsc.bcm.edu	37	11	63679913	63679913	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr11:63679913C>A	ENST00000301459.4	-	11	1508	c.1121G>T	c.(1120-1122)cGg>cTg	p.R374L	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	374	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GAAGCGGCGCCGGTAGCTCAC	0.587																																																0													64	76	72					11																	63679913		2201	4297	6498	SO:0001583	missense	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1121G>T	chr11.hg19:g.63679913C>A	ENSP00000301459:p.Arg374Leu		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	hg19	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040706	0.93685	.	.	ENSG00000167771	ENST00000301459	T	0.37411	1.2	4.55	4.55	0.56014	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.89287	3.02	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.74237	-0.3730	10	0.87932	D	0	.	16.6282	0.84992	0.0:1.0:0.0:0.0	.	374	Q8IZ40	RCOR2_HUMAN	L	374	ENSP00000301459:R374L	ENSP00000301459:R374L	R	-	2	0	RCOR2	63436489	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.314000	0.78988	2.536000	0.85505	0.561000	0.74099	CGG		0.587	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		A	63679913	C	A	63679913	3	1	70	1	0	0	0	0	1	0	0	0	13189	652	23	4	458	4	RCOR2	11	63679913	Missense_Mutation	SNP	C	TCGA-A4-7915-01A-11D-2201-08	41385533	63679913	71326603	20	4782											
RBM4B	83759	hgsc.bcm.edu	37	11	66444485	66444485	+	Silent	SNP	G	G	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr11:66444485G>A	ENST00000525754.1	-	1	734	c.66C>T	c.(64-66)ttC>ttT	p.F22F	RBM4B_ENST00000524637.1_Silent_p.F22F|RBM4B_ENST00000531969.1_Silent_p.F22F|RBM4B_ENST00000531036.2_Silent_p.F22F|RBM4B_ENST00000310046.4_Silent_p.F22F			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	22	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						CATACTGCTCGAAGAGTGAGC	0.512																																																0													91	91	91					11																	66444485		2200	4295	6495	SO:0001819	synonymous_variant	83759			AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	28842	protein-coding gene	gene with protein product			"RNA binding motif protein 30"	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.66C>T	chr11.hg19:g.66444485G>A			B3KT83	Silent	SNP	ENST00000525754.1	hg19	CCDS8149.1																																																																																				0.512	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		A	66444485	G	A	66444485	2	1	70	1	0	0	0	0	0	0	0	1	13148	1049	37	1		1	RBM4B	11	66444485	Silent	SNP	G	TCGA-A4-7915-01A-11D-2201-08	2764572	66444485	68562031	21	4783											
SLC36A4	120103	hgsc.bcm.edu	37	11	92917687	92917687	+	Splice_Site	SNP	C	C	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr11:92917687C>A	ENST00000326402.4	-	3	310		c.e3-1		SLC36A4_ENST00000529184.1_Splice_Site	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4						L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGTACAAATCTGAAAAGTAA	0.313																																																0													99	105	103					11																	92917687		2201	4297	6498	SO:0001630	splice_region_variant	120103			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"Solute carriers"	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.180-1G>T	chr11.hg19:g.92917687C>A			Q86X30|Q8IVM5|Q8N8S6	Splice_Site	SNP	ENST00000326402.4	hg19	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172159	0.78452	.	.	ENSG00000180773	ENST00000326402	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC36A4	92557335	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.132000	0.71676	2.885000	0.99019	0.655000	0.94253	.		0.313	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2		Intron	A	92917687	C	A	92917687	5	1	70	1	0	0	0	0	0	0	1	0	14602	927	32	4	1371	4	SLC36A4	11	92917687	Splice_Site	SNP	C	TCGA-A4-7915-01A-11D-2201-08	26473202	92917687	42088829	22	4784											
ITGAL	3683	hgsc.bcm.edu	37	16	30490672	30490672	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr16:30490672G>A	ENST00000356798.6	+	6	646	c.466G>A	c.(466-468)Gac>Aac	p.D156N	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000454514.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	156	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GGGCAACGTAGACCTGGTATT	0.478																																					NSCLC(110;1462 1641 3311 33990 49495)											0													120	108	112					16																	30490672		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.466G>A	chr16.hg19:g.30490672G>A	ENSP00000349252:p.Asp156Asn		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	hg19	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796940	0.90453	.	.	ENSG00000005844	ENST00000356798	D	0.92149	-2.98	5.98	5.98	0.97165	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000021	D	0.94434	0.8209	M	0.73430	2.235	0.80722	D	1	P	0.44006	0.824	P	0.51193	0.662	D	0.94464	0.7679	10	0.72032	D	0.01	.	17.3632	0.87357	0.0:0.0:1.0:0.0	.	156	P20701	ITAL_HUMAN	N	156	ENSP00000349252:D156N	ENSP00000349252:D156N	D	+	1	0	ITGAL	30398173	1.000000	0.71417	0.978000	0.43139	0.941000	0.58515	4.655000	0.61476	2.838000	0.97847	0.514000	0.50259	GAC		0.478	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			A	30490672	G	A	30490672	3	1	70	1	0	0	0	0	1	0	0	0	7888	942	33	2	488	2	ITGAL	16	30490672	Missense_Mutation	SNP	G	TCGA-A4-7915-01A-11D-2201-08		30490672	59864081	23	4785											
DNAJA2	10294	hgsc.bcm.edu	37	16	47005807	47005807	+	Splice_Site	DEL	C	C	-			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr16:47005807delC	ENST00000317089.5	-	2	354		c.e2+1		RP11-169E6.1_ENST00000562536.1_RNA	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2						positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				AAATAACTTACTTTGTCTCCT	0.343																																																0													127	126	126					16																	47005807		2203	4300	6503	SO:0001630	splice_region_variant	10294			AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"Heat shock proteins / DNAJ (HSP40)"	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.138+1G>-	chr16.hg19:g.47005807delC			B2R7L7|O14711	Splice_Site	DEL	ENST00000317089.5	hg19	CCDS10726.1																																																																																				0.343	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2		Intron	-	47005807	C	-	47005807	8	5	70	1	0	1	0	1	0	0	1	0	4614	579	20	0	1131	0	DNAJA2	16	47005807	Splice_Site	DEL	C	TCGA-A4-7915-01A-11D-2201-08	16515135	47005807	43348946	24	4786											
SHD	56961	hgsc.bcm.edu	37	19	4290585	4290585	+	Silent	SNP	C	C	T	rs111268424		TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr19:4290585C>T	ENST00000543264.2	+	6	2441	c.978C>T	c.(976-978)gcC>gcT	p.A326A	SHD_ENST00000599689.1_Silent_p.A286A	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	326	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCAGGGTGCCGAGCATCTGG	0.657																																																0													59	53	55					19																	4290585		2203	4300	6503	SO:0001819	synonymous_variant	56961			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.978C>T	chr19.hg19:g.4290585C>T			Q96NC2	Silent	SNP	ENST00000543264.2	hg19	CCDS12125.1																																																																																				0.657	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		T	4290585	C	T	4290585	2	4	70	1	0	0	0	0	0	0	0	1	14281	639	23	1		1	SHD	19	4290585	Silent	SNP	C	TCGA-A4-7915-01A-11D-2201-08		4290585	54838398	25	4787											
ARHGAP35	2909	hgsc.bcm.edu	37	19	47422875	47422875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr19:47422875delC	ENST00000404338.3	+	1	943	c.943delC	c.(943-945)cagfs	p.Q315fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	315	FF 1.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GGAAGGGACTCAGAAAGCCAA	0.507																																																0													32	32	32					19																	47422875		1979	4167	6146	SO:0001589	frameshift_variant	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.943delC	chr19.hg19:g.47422875delC	ENSP00000385720:p.Gln315fs		A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	hg19	CCDS46127.1																																																																																				0.507	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		-	47422875	C	-	47422875	7	5	70	1	0	1	0	1	0	0	0	0	6797	827	29	0	945	0	ARHGAP35	19	47422875	Frame_Shift_Del	DEL	C	TCGA-A4-7915-01A-11D-2201-08	43132290	47422875	11706108	26	4788											
TP53RK	112858	hgsc.bcm.edu	37	20	45315804	45315804	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr20:45315804T>C	ENST00000372102.3	-	2	380	c.355A>G	c.(355-357)Aag>Gag	p.K119E	RP1-28H20.3_ENST00000606362.1_lincRNA			Q96S44	PRPK_HUMAN	TP53 regulating kinase	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				lipopolysaccharide biosynthetic process (GO:0009103)|protein phosphorylation (GO:0006468)|tRNA processing (GO:0008033)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CACTGAGCCTTCAATTTCTTC	0.418																																																0													151	172	165					20																	45315804		2202	4300	6502	SO:0001583	missense	112858				CCDS13401.1	20q13.2	2014-05-14	2004-05-10	2004-05-12	ENSG00000172315	ENSG00000172315			16197	protein-coding gene	gene with protein product		608679	"chromosome 20 open reading frame 64"	C20orf64		11546806, 12914926	Standard	NM_033550		Approved	dJ101A2.2, prpk, Nori-2p, BUD32	uc002xsk.3	Q96S44	OTTHUMG00000085887	ENST00000372102.3:c.355A>G	chr20.hg19:g.45315804T>C	ENSP00000361174:p.Lys119Glu		B3KU44|Q3T977|Q5JZ01|Q6NZ60|Q96FM7|Q9NQE6	Missense_Mutation	SNP	ENST00000372102.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.74|11.74	1.727453|1.727453	0.30593|0.30593	.|.	.|.	ENSG00000172315|ENSG00000172315	ENST00000372114|ENST00000372102	T|T	0.12361|0.47869	2.69|0.83	5.38|5.38	3.04|3.04	0.35103|0.35103	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.167964|.	0.52532|.	D|.	0.000073|.	T|T	0.33731|0.33731	0.0873|0.0873	L|L	0.39898|0.39898	1.24|1.24	0.23677|0.23677	N|N	0.997139|0.997139	P|B	0.49961|0.31548	0.93|0.328	P|B	0.53224|0.34242	0.721|0.178	T|T	0.25641|0.25641	-1.0126|-1.0126	10|9	0.42905|0.07644	T|T	0.14|0.81	-10.1094|-10.1094	6.7483|6.7483	0.23474|0.23474	0.1725:0.0:0.2393:0.5882|0.1725:0.0:0.2393:0.5882	.|.	117|119	Q96S44|Q5JZ02	PRPK_HUMAN|.	G|E	117|119	ENSP00000361186:E117G|ENSP00000361174:K119E	ENSP00000361186:E117G|ENSP00000361174:K119E	E|K	-|-	2|1	0|0	TP53RK|TP53RK	44749211|44749211	0.999000|0.999000	0.42202|0.42202	0.971000|0.971000	0.41717|0.41717	0.502000|0.502000	0.33828|0.33828	1.944000|1.944000	0.40263|0.40263	0.449000|0.449000	0.26747|0.26747	-0.313000|-0.313000	0.08912|0.08912	GAA|AAG		0.418	TP53RK-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000193688.1	NM_033550		C	45315804	T	C	45315804	3	2	70	1	0	0	0	0	1	0	0	0	16395	1783	62	3	415	3	TP53RK	20	45315804	Missense_Mutation	SNP	T	TCGA-A4-7915-01A-11D-2201-08		45315804	17709716	27	4789											
KDELR3	11015	hgsc.bcm.edu	37	22	38877225	38877225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A4-7915-01A-11D-2201-08	TCGA-A4-7915-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	42528857-7966-471e-a0fe-27a109429871	e6538442-84f0-47d1-aee6-60a032d2d9d0	g.chr22:38877225G>A	ENST00000216014.4	+	4	532	c.360G>A	c.(358-360)tgG>tgA	p.W120*	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Nonsense_Mutation_p.W120*	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	120					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					AGATCCTCTGGACTTTCTCTA	0.448																																					Ovarian(11;103 529 24120 28493 32980)											0													173	182	179					22																	38877225		2203	4300	6503	SO:0001587	stop_gained	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.360G>A	chr22.hg19:g.38877225G>A	ENSP00000216014:p.Trp120*		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Nonsense_Mutation	SNP	ENST00000216014.4	hg19	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	G	35	5.560833	0.96527	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4255	0.90607	0.0:0.0:1.0:0.0	.	.	.	.	X	120	.	ENSP00000216014:W120X	W	+	3	0	KDELR3	37207171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.595000	0.87683	0.650000	0.86243	TGG		0.448	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			A	38877225	G	A	38877225	4	1	70	1	0	0	0	0	0	1	0	0	8123	1183	41	2	374	2	KDELR3	22	38877225	Nonsense_Mutation	SNP	G	TCGA-A4-7915-01A-11D-2201-08		38877225	12427341	28	4790											
RERE	473	hgsc.bcm.edu	37	1	8674682	8674682	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:8674682A>T	ENST00000337907.3	-	5	1094	c.460T>A	c.(460-462)Tct>Act	p.S154T	RERE_ENST00000400907.2_Missense_Mutation_p.S154T|RERE_ENST00000400908.2_Missense_Mutation_p.S154T	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	154	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACCGGCAGAGAGCATGCTGGG	0.498																																																0													77	86	83					1																	8674682		2203	4300	6503	SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.460T>A	chr1.hg19:g.8674682A>T	ENSP00000338629:p.Ser154Thr		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	hg19	CCDS95.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568378	0.45798	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.43294	0.95;0.95	5.33	5.33	0.75918	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	T	0.42314	0.1197	N	0.17631	0.505	0.80722	D	1	D	0.53885	0.963	D	0.67231	0.95	T	0.21827	-1.0234	9	0.07644	T	0.81	-16.2545	11.6091	0.51049	1.0:0.0:0.0:0.0	.	154	Q9P2R6	RERE_HUMAN	T	154	ENSP00000338629:S154T;ENSP00000383700:S154T	ENSP00000338629:S154T	S	-	1	0	RERE	8597269	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.525000	0.22956	2.234000	0.73211	0.533000	0.62120	TCT		0.498	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			T	8674682	A	T	8674682	3	4	71	1	0	0	0	0	1	0	0	0	13237	304	11	5	4320	5	RERE	1	8674682	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08		8674682	240575939	1	4791											
TNFRSF1B	7133	hgsc.bcm.edu	37	1	12266986	12266986	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:12266986C>T	ENST00000376259.3	+	10	1384	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	432					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GCCTTTCGGTCACAGCTGGAG	0.622																																																0													100	96	98					1																	12266986		2203	4300	6503	SO:0001583	missense	7133			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1295C>T	chr1.hg19:g.12266986C>T	ENSP00000365435:p.Ser432Leu		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	hg19	CCDS145.1	.	.	.	.	.	.	.	.	.	.	C	8.806	0.934041	0.18206	.	.	ENSG00000028137	ENST00000376259	D	0.86865	-2.18	4.93	3.01	0.34805	.	3.844360	0.01082	N	0.005008	D	0.85366	0.5680	L	0.57536	1.79	0.09310	N	0.999998	B	0.30068	0.267	B	0.28139	0.086	T	0.66901	-0.5806	10	0.44086	T	0.13	-20.2744	6.4642	0.21973	0.1787:0.7264:0.0:0.0949	.	432	P20333	TNR1B_HUMAN	L	432	ENSP00000365435:S432L	ENSP00000365435:S432L	S	+	2	0	TNFRSF1B	12189573	0.043000	0.20138	0.045000	0.18777	0.005000	0.04900	2.194000	0.42668	0.564000	0.29238	0.561000	0.74099	TCA		0.622	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		T	12266986	C	T	12266986	3	4	71	1	0	0	0	0	1	0	0	0	16299	838	29	2	1333	2	TNFRSF1B	1	12266986	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	3592304	12266986	236983635	2	4792											
AGMAT	79814	hgsc.bcm.edu	37	1	15909721	15909721	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:15909721T>A	ENST00000375826.3	-	2	584	c.442A>T	c.(442-444)Att>Ttt	p.I148F	DNAJC16_ENST00000483270.1_Intron|RP4-680D5.2_ENST00000428945.1_RNA	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	148					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGCTACAATTTTCTCATAG	0.502																																					NSCLC(126;1678 1780 25805 43508 49531)											0													60	62	61					1																	15909721		2203	4300	6503	SO:0001583	missense	79814			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.442A>T	chr1.hg19:g.15909721T>A	ENSP00000364986:p.Ile148Phe		Q5TDH1|Q9H5J3	Missense_Mutation	SNP	ENST00000375826.3	hg19	CCDS160.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284549	0.40394	.	.	ENSG00000116771	ENST00000375826	D	0.86097	-2.07	5.17	4.0	0.46444	Ureohydrolase domain (1);	0.051325	0.85682	D	0.000000	D	0.85864	0.5796	M	0.88241	2.94	0.49483	D	0.99979	B	0.30914	0.3	B	0.28553	0.091	D	0.83786	0.0228	10	0.62326	D	0.03	-10.0798	10.1512	0.42794	0.0:0.0812:0.0:0.9188	.	148	Q9BSE5	SPEB_HUMAN	F	148	ENSP00000364986:I148F	ENSP00000364986:I148F	I	-	1	0	AGMAT	15782308	1.000000	0.71417	0.015000	0.15790	0.482000	0.33219	3.489000	0.53237	0.768000	0.33290	0.460000	0.39030	ATT		0.502	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		A	15909721	T	A	15909721	3	1	71	1	0	0	0	0	1	0	0	0	385	1493	52	5	640	5	AGMAT	1	15909721	Missense_Mutation	SNP	T	TCGA-A4-7996-01A-11D-2201-08	3642735	15909721	233340900	3	4793											
SLC5A9	200010	hgsc.bcm.edu	37	1	48713171	48713171	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:48713171C>T	ENST00000438567.2	+	14	2054	c.2002C>T	c.(2002-2004)Ctt>Ttt	p.L668F	SLC5A9_ENST00000236495.5_Missense_Mutation_p.L693F|SLC5A9_ENST00000533824.1_Missense_Mutation_p.L689F|SLC5A9_ENST00000471020.1_3'UTR	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	668					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CAATGCTGTCCTTTTGCTGGC	0.527																																																0													118	109	112					1																	48713171		2203	4300	6503	SO:0001583	missense	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.2002C>T	chr1.hg19:g.48713171C>T	ENSP00000401730:p.Leu668Phe		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	hg19	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633803	0.47049	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.89485	-2.46;-2.45;-2.52	4.91	-2.59	0.06209	.	0.427982	0.25433	N	0.030704	D	0.85208	0.5644	L	0.43646	1.37	0.80722	D	1	P;P;P	0.52577	0.883;0.954;0.954	P;P;P	0.50617	0.459;0.526;0.646	T	0.80341	-0.1423	10	0.28530	T	0.3	.	10.552	0.45095	0.6789:0.2512:0.0:0.0699	.	689;668;693	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	F	689;668;693	ENSP00000431900:L689F;ENSP00000401730:L668F;ENSP00000236495:L693F	ENSP00000236495:L693F	L	+	1	0	SLC5A9	48485758	0.564000	0.26602	0.314000	0.25224	0.881000	0.50899	-0.070000	0.11523	-0.340000	0.08388	0.561000	0.74099	CTT		0.527	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		T	48713171	C	T	48713171	3	4	71	1	0	0	0	0	1	0	0	0	14678	681	24	2	2135	2	SLC5A9	1	48713171	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	32803450	48713171	200537450	4	4794											
ZYG11B	79699	hgsc.bcm.edu	37	1	53287171	53287171	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:53287171A>G	ENST00000294353.6	+	14	2250	c.2105A>G	c.(2104-2106)aAa>aGa	p.K702R	ZYG11B_ENST00000443756.2_Missense_Mutation_p.K632R	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	702										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TACAACATCAAAGATCATGAA	0.418																																																0													98	85	89					1																	53287171		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.2105A>G	chr1.hg19:g.53287171A>G	ENSP00000294353:p.Lys702Arg		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	hg19	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.462431	0.26248	.	.	ENSG00000162378	ENST00000443756;ENST00000294353	T;T	0.48836	0.8;0.8	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.155352	0.56097	D	0.000023	T	0.25791	0.0628	N	0.08118	0	0.80722	D	1	B;B	0.16802	0.019;0.001	B;B	0.22753	0.041;0.001	T	0.13415	-1.0510	10	0.14656	T	0.56	.	9.8251	0.40908	0.9231:0.0:0.0769:0.0	.	632;702	B4DK95;Q9C0D3	.;ZY11B_HUMAN	R	632;702	ENSP00000400522:K632R;ENSP00000294353:K702R	ENSP00000294353:K702R	K	+	2	0	ZYG11B	53059759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.218000	0.51192	2.019000	0.59389	0.482000	0.46254	AAA		0.418	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		G	53287171	A	G	53287171	3	3	71	1	0	0	0	0	1	0	0	0	18258	14	1	3	2159	3	ZYG11B	1	53287171	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08	4574000	53287171	195963450	5	4795											
USP24	23358	hgsc.bcm.edu	37	1	55612677	55612677	+	Silent	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:55612677A>G	ENST00000294383.6	-	19	2174	c.2175T>C	c.(2173-2175)taT>taC	p.Y725Y	USP24_ENST00000407756.1_Silent_p.Y565Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	725					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TCCAGCCCAGATACAGAGTAG	0.393																																																0													104	99	101					1																	55612677		1852	4098	5950	SO:0001819	synonymous_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2175T>C	chr1.hg19:g.55612677A>G			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	hg19	CCDS44154.2																																																																																				0.393	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			G	55612677	A	G	55612677	2	3	71	1	0	0	0	0	0	0	0	1	17060	340	12	3		3	USP24	1	55612677	Silent	SNP	A	TCGA-A4-7996-01A-11D-2201-08	2325506	55612677	193637944	6	4796											
INADL	10207	hgsc.bcm.edu	37	1	62365295	62365295	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:62365295C>T	ENST00000371158.2	+	23	3286	c.3172C>T	c.(3172-3174)Cca>Tca	p.P1058S	INADL_ENST00000316485.6_Missense_Mutation_p.P1058S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1058					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGAAGAAACTCCAAATTTTAG	0.398																																																0													179	177	178					1																	62365295		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3172C>T	chr1.hg19:g.62365295C>T	ENSP00000360200:p.Pro1058Ser		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	hg19	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626785	0.87560	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.13307	2.74;2.6	5.26	5.26	0.73747	PDZ/DHR/GLGF (1);	0.000000	0.64402	D	0.000001	T	0.39655	0.1086	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	0.991;0.999;1.0	D;D;D	0.85130	0.98;0.997;0.994	T	0.04915	-1.0918	10	0.34782	T	0.22	.	19.2911	0.94100	0.0:1.0:0.0:0.0	.	1058;1058;1058	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	S	1058	ENSP00000360200:P1058S;ENSP00000326199:P1058S	ENSP00000255202:P1058S	P	+	1	0	INADL	62137883	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.990000	0.63876	2.636000	0.89361	0.579000	0.79373	CCA		0.398	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		T	62365295	C	T	62365295	3	4	71	1	0	0	0	0	1	0	0	0	7733	855	30	2	3258	2	INADL	1	62365295	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	6752618	62365295	186885326	7	4797											
TCHH	7062	hgsc.bcm.edu	37	1	152082279	152082279	+	Silent	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:152082279C>T	ENST00000368804.1	-	2	3413	c.3414G>A	c.(3412-3414)agG>agA	p.R1138R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1138	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cccgatattgcctctccagct	0.612																																																0													91	90	90					1																	152082279		2000	4154	6154	SO:0001819	synonymous_variant	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3414G>A	chr1.hg19:g.152082279C>T			Q5VUI3	Silent	SNP	ENST00000368804.1	hg19	CCDS41396.1																																																																																				0.612	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152082279	C	T	152082279	2	4	71	1	0	0	0	0	0	0	0	1	15705	738	26	2		2	TCHH	1	152082279	Silent	SNP	C	TCGA-A4-7996-01A-11D-2201-08	89716984	152082279	97168342	8	4798											
KCNN3	3782	hgsc.bcm.edu	37	1	154841688	154841688	+	Silent	SNP	G	G	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:154841688G>A	ENST00000271915.4	-	1	1068	c.753C>T	c.(751-753)agC>agT	p.S251S	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	256					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	AGGTGGTGCTGCTGGCGGTGG	0.567																																																0													109	104	106					1																	154841688		2203	4300	6503	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.753C>T	chr1.hg19:g.154841688G>A			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	hg19	CCDS30880.1																																																																																				0.567	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		A	154841688	G	A	154841688	2	1	71	1	0	0	0	0	0	0	0	1	8082	1310	46	2		2	KCNN3	1	154841688	Silent	SNP	G	TCGA-A4-7996-01A-11D-2201-08	2759409	154841688	94408933	9	4799											
EFNA1	1942	hgsc.bcm.edu	37	1	155104075	155104075	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:155104075A>G	ENST00000368407.3	+	2	871	c.353A>G	c.(352-354)aAg>aGg	p.K118R	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Missense_Mutation_p.K118R	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	118	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCCTGGGCAAGGAGTTCAAA	0.527																																																0													53	47	49					1																	155104075		2203	4300	6503	SO:0001583	missense	1942				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"Ephrins"	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.353A>G	chr1.hg19:g.155104075A>G	ENSP00000357392:p.Lys118Arg		D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Missense_Mutation	SNP	ENST00000368407.3	hg19	CCDS1091.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554194	0.86231	.	.	ENSG00000169242	ENST00000368407;ENST00000368406	T;T	0.43294	0.95;0.95	5.22	5.22	0.72569	Ephrin, conserved site (1);Cupredoxin (2);	0.045262	0.85682	D	0.000000	T	0.51500	0.1678	M	0.71581	2.175	0.53688	D	0.999973	D;D	0.76494	0.997;0.999	P;D	0.71184	0.9;0.972	T	0.51124	-0.8745	10	0.33940	T	0.23	-2.5539	13.3345	0.60509	1.0:0.0:0.0:0.0	.	118;118	P20827-2;P20827	.;EFNA1_HUMAN	R	118	ENSP00000357392:K118R;ENSP00000357391:K118R	ENSP00000357391:K118R	K	+	2	0	EFNA1	153370699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.204000	0.51082	2.097000	0.63578	0.533000	0.62120	AAG		0.527	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	NM_004428		G	155104075	A	G	155104075	3	3	71	1	0	0	0	0	1	0	0	0	4952	72	3	3	359	3	EFNA1	1	155104075	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08	262387	155104075	94146546	10	4800											
FAM72A	729533	hgsc.bcm.edu	37	1	206139310	206139310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr1:206139310delT	ENST00000367128.3	+	1	854	c.6delT	c.(4-6)tctfs	p.S2fs	FAM72A_ENST00000367129.2_Intron|FAM72A_ENST00000341209.5_Frame_Shift_Del_p.S2fs|FAM72A_ENST00000470041.1_Intron|RP11-312O7.2_ENST00000606644.1_RNA|FAM72A_ENST00000607379.1_Frame_Shift_Del_p.S2fs|RP11-312O7.2_ENST00000429210.1_RNA			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	2						mitochondrion (GO:0005739)				endometrium(2)	2						ACGCCATGTCTACCAACATTT	0.438																																																0													1	1	1					1																	206139310		212	579	791	SO:0001589	frameshift_variant	729533			CR407567	CCDS73016.1	1q32.1	2008-03-26			ENSG00000196550	ENSG00000196550			24044	protein-coding gene	gene with protein product		614710				12477932	Standard	NM_001123168		Approved	MGC57827, RP11-312O7.1	uc001hdr.4	Q5TYM5	OTTHUMG00000042552	ENST00000367128.3:c.6delT	chr1.hg19:g.206139310delT	ENSP00000356096:p.Ser2fs		B2RV15|Q5TYM4	Frame_Shift_Del	DEL	ENST00000367128.3	hg19	CCDS41458.1																																																																																				0.438	FAM72A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100825.1			-	206139310	T	-	206139310	7	5	71	1	0	1	0	1	0	0	0	0	5616	1509	53	0	8	0	FAM72A	1	206139310	Frame_Shift_Del	DEL	T	TCGA-A4-7996-01A-11D-2201-08	51035235	206139310	43111311	11	4801											
LRPPRC	10128	hgsc.bcm.edu	37	2	44139638	44139638	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:44139638A>G	ENST00000260665.7	-	30	3265	c.3208T>C	c.(3208-3210)Tac>Cac	p.Y1070H		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1070					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGATTGCTGTAGGTTTCAGCA	0.313																																																0													112	107	109					2																	44139638		2202	4297	6499	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3208T>C	chr2.hg19:g.44139638A>G	ENSP00000260665:p.Tyr1070His		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	hg19	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643279	0.67244	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.13420	2.59	5.78	5.78	0.91487	.	0.065106	0.64402	D	0.000006	T	0.40272	0.1110	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.27773	-1.0064	10	0.66056	D	0.02	-5.0562	15.7709	0.78167	1.0:0.0:0.0:0.0	.	970;1070	F5H4J6;P42704	.;LPPRC_HUMAN	H	970;1070	ENSP00000260665:Y1070H	ENSP00000260665:Y1070H	Y	-	1	0	LRPPRC	43993142	1.000000	0.71417	0.283000	0.24790	0.010000	0.07245	7.018000	0.76406	2.205000	0.71048	0.533000	0.62120	TAC		0.313	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		G	44139638	A	G	44139638	3	3	71	1	0	0	0	0	1	0	0	0	8967	420	15	3	1012	3	LRPPRC	2	44139638	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08		44139638	199059735	12	4802											
MTHFD2	10797	hgsc.bcm.edu	37	2	74441208	74441208	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:74441208G>A	ENST00000394053.2	+	8	972	c.892G>A	c.(892-894)Gtc>Atc	p.V298I	MTHFD2_ENST00000409804.1_Missense_Mutation_p.V170I|SLC4A5_ENST00000483195.1_5'Flank|MTHFD2_ENST00000264090.4_Missense_Mutation_p.V196I|MTHFD2_ENST00000409601.1_Missense_Mutation_p.V215I|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000394050.3_Missense_Mutation_p.V134I	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	298					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	CTATGTAGGAGTCAGACAAAA	0.398																																																0													110	119	116					2																	74441208		2029	4215	6244	SO:0001583	missense	10797			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.892G>A	chr2.hg19:g.74441208G>A	ENSP00000377617:p.Val298Ile		Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	hg19	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540151	0.85917	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.37	5.58	5.58	0.84498	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.114477	0.64402	D	0.000017	T	0.78291	0.4260	M	0.82323	2.585	0.80722	D	1	D;D	0.71674	0.988;0.998	D;D	0.74023	0.919;0.982	T	0.80569	-0.1324	10	0.72032	D	0.01	.	17.4533	0.87599	0.0:0.0:1.0:0.0	.	215;298	B8ZZU9;P13995	.;MTDC_HUMAN	I	298;170;196;134;215	ENSP00000377617:V298I;ENSP00000386536:V170I;ENSP00000264090:V196I;ENSP00000377614:V134I;ENSP00000386542:V215I	ENSP00000264090:V196I	V	+	1	0	MTHFD2	74294716	1.000000	0.71417	0.821000	0.32701	0.724000	0.41520	9.415000	0.97375	2.813000	0.96785	0.655000	0.94253	GTC		0.398	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			A	74441208	G	A	74441208	3	1	71	1	0	0	0	0	1	0	0	0	9931	1029	36	2	922	2	MTHFD2	2	74441208	Missense_Mutation	SNP	G	TCGA-A4-7996-01A-11D-2201-08	30301570	74441208	168758165	13	4803											
IL1RL2	8808	hgsc.bcm.edu	37	2	102849533	102849533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:102849533C>T	ENST00000264257.2	+	10	1372	c.1246C>T	c.(1246-1248)Caa>Taa	p.Q416*	IL1RL2_ENST00000441515.2_Nonsense_Mutation_p.Q298*|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Nonsense_Mutation_p.Q416*	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	416	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GTTGGAGAGACAATGTGGATA	0.453																																																0													116	111	113					2																	102849533		2203	4300	6503	SO:0001587	stop_gained	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1246C>T	chr2.hg19:g.102849533C>T	ENSP00000264257:p.Gln416*		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Nonsense_Mutation	SNP	ENST00000264257.2	hg19	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	C	36	5.844802	0.97016	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	.	.	.	6.07	6.07	0.98685	.	0.205036	0.43919	D	0.000507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	416;298;416	.	ENSP00000264257:Q416X	Q	+	1	0	IL1RL2	102215965	0.985000	0.35326	1.000000	0.80357	0.447000	0.32167	2.970000	0.49240	2.885000	0.99019	0.655000	0.94253	CAA		0.453	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		T	102849533	C	T	102849533	4	4	71	1	0	0	0	0	0	1	0	0	7666	479	17	2	1280	2	IL1RL2	2	102849533	Nonsense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	28408325	102849533	140349840	14	4804											
RGPD5	84220	hgsc.bcm.edu	37	2	110582512	110582512	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:110582512delA	ENST00000016946.3	+	12	1898	c.1740delA	c.(1738-1740)gcafs	p.A580fs	RGPD5_ENST00000393283.1_Frame_Shift_Del_p.A580fs|RGPD5_ENST00000272454.6_Frame_Shift_Del_p.A580fs	NM_005054.2	NP_005045.2	Q99666	RGPD5_HUMAN	RANBP2-like and GRIP domain containing 5	580					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)				central_nervous_system(1)	1						TACATTGGGCAAAATACCTTC	0.323																																																0													1	1	1					2																	110582512		1	3	4	SO:0001589	frameshift_variant	84220			U64675	CCDS2082.1, CCDS2083.1	2q13	2013-01-10			ENSG00000015568	ENSG00000015568		"Tetratricopeptide (TTC) repeat domain containing"	32418	protein-coding gene	gene with protein product		612708				15710750, 15815621	Standard	NM_032260		Approved	RGP5, BS-63, DKFZp686I1842		Q99666	OTTHUMG00000130985	ENST00000016946.3:c.1740delA	chr2.hg19:g.110582512delA	ENSP00000016946:p.Ala580fs		Q53QN2|Q53T03|Q59GM7|Q9H0B2	Frame_Shift_Del	DEL	ENST00000016946.3	hg19	CCDS2082.1																																																																																				0.323	RGPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253599.3	NM_005054		-	110582512	A	-	110582512	7	5	71	1	0	1	0	1	0	0	0	0	13295	117	5	0	1786	0	RGPD5	2	110582512	Frame_Shift_Del	DEL	A	TCGA-A4-7996-01A-11D-2201-08	7732979	110582512	132616861	15	4805											
RGPD5	729540	hgsc.bcm.edu	37	2	111304146	111304146	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:111304146delT	ENST00000329516.3	-	12	1819	c.1743delA	c.(1741-1743)aaafs	p.K581fs	RGPD6_ENST00000330331.5_Frame_Shift_Del_p.K581fs	NM_001123363.3	NP_001116835.1	Q99666	RGPD5_HUMAN	RANBP2-like and GRIP domain containing 6	581					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)											TCTGAAGGTATTTTGCCCAAT	0.323																																																0																																										SO:0001589	frameshift_variant	84220			AK056675	CCDS46388.1, CCDS42729.1	2q13	2013-01-10			ENSG00000183054	ENSG00000183054		"Tetratricopeptide (TTC) repeat domain containing"	32419	protein-coding gene	gene with protein product		612709				15710750, 15815621, 9480752	Standard	NM_001037866		Approved	RGP6	uc021vly.1	Q99666	OTTHUMG00000153196	ENST00000329516.3:c.1743delA	chr2.hg19:g.111304146delT	ENSP00000330842:p.Lys581fs		Q53QN2|Q53T03|Q59GM7|Q9H0B2	Frame_Shift_Del	DEL	ENST00000329516.3	hg19	CCDS46388.1																																																																																				0.323	RGPD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330029.5	NM_001123363		-	111304146	T	-	111304146	7	5	71	1	0	1	0	1	0	0	0	0	13295	1490	52	0	9226	0	RGPD5	2	111304146	Frame_Shift_Del	DEL	T	TCGA-A4-7996-01A-11D-2201-08	721634	111304146	131895227	16	4806											
RGPD5	727851	hgsc.bcm.edu	37	2	113158709	113158709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:113158709delT	ENST00000302558.3	-	12	1934	c.1743delA	c.(1741-1743)aaafs	p.K581fs	RGPD8_ENST00000330575.5_Frame_Shift_Del_p.K581fs|RGPD8_ENST00000409750.1_Frame_Shift_Del_p.K441fs	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	581					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TCTGAAGGTATTTTGCCCAAT	0.323																																																0																																										SO:0001589	frameshift_variant	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.1743delA	chr2.hg19:g.113158709delT	ENSP00000306637:p.Lys581fs		Q5CZA8	Frame_Shift_Del	DEL	ENST00000302558.3	hg19	CCDS46394.1																																																																																				0.323	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		-	113158709	T	-	113158709	7	5	71	1	0	1	0	1	0	0	0	0	13295	1490	52	0	14616	0	RGPD5	2	113158709	Frame_Shift_Del	DEL	T	TCGA-A4-7996-01A-11D-2201-08	1854563	113158709	130040664	17	4807											
PSMD14	10213	hgsc.bcm.edu	37	2	162227815	162227815	+	Silent	SNP	T	T	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:162227815T>C	ENST00000409682.3	+	7	1148	c.444T>C	c.(442-444)atT>atC	p.I148I		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	148					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)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|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 endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						TGGATCCCATTCAGAGTGTAA	0.408																																																0													121	120	121					2																	162227815		1930	4131	6061	SO:0001819	synonymous_variant	10213			U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"Proteasome (prosome, macropain) subunits"	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.444T>C	chr2.hg19:g.162227815T>C			B3KNW2|O00176	Silent	SNP	ENST00000409682.3	hg19	CCDS46437.1																																																																																				0.408	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805		C	162227815	T	C	162227815	2	2	71	1	0	0	0	0	0	0	0	1	12702	1771	62	3		3	PSMD14	2	162227815	Silent	SNP	T	TCGA-A4-7996-01A-11D-2201-08	49069106	162227815	80971558	18	4808											
COL5A2	1290	hgsc.bcm.edu	37	2	189898818	189898819	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:189898818_189898819insTT	ENST00000374866.3	-	54	4751_4752	c.4477_4478insAA	c.(4477-4479)attfs	p.I1493fs		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1493	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AACTGGCCCAATTTCAACGCCG	0.46																																																0																																										SO:0001589	frameshift_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4476_4477dupAA	chr2.hg19:g.189898819_189898820dupTT	ENSP00000364000:p.Ile1493fs		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Frame_Shift_Ins	INS	ENST00000374866.3	hg19	CCDS33350.1																																																																																				0.46	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		TT	189898819	-	TT	189898818	7	5	71	1	0	1	1	0	0	0	0	0	3699	101	4	0	25	0	COL5A2	2	189898818	Frame_Shift_Ins	INS	-	TCGA-A4-7996-01A-11D-2201-08	27671003	189898818	53300555	19	4809											
NBEAL1	65065	hgsc.bcm.edu	37	2	204039877	204039877	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:204039877A>T	ENST00000449802.1	+	41	6577	c.6244A>T	c.(6244-6246)Aat>Tat	p.N2082Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2082	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAGATATGAAAATTTTGAGGA	0.333																																																0													66	66	66					2																	204039877		1802	4060	5862	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6244A>T	chr2.hg19:g.204039877A>T	ENSP00000399903:p.Asn2082Tyr		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	hg19	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547864	0.86022	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.80304	-1.36;-1.36	5.92	5.92	0.95590	BEACH domain (4);	0.091060	0.85682	D	0.000000	D	0.82300	0.5007	L	0.28649	0.875	0.54753	D	0.999985	P;P	0.48016	0.904;0.904	P;P	0.57371	0.819;0.748	T	0.82971	-0.0192	10	0.48119	T	0.1	.	16.0292	0.80564	1.0:0.0:0.0:0.0	.	2082;2071	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Y	2082;2082;97	ENSP00000399903:N2082Y;ENSP00000388466:N97Y	ENSP00000344985:N2082Y	N	+	1	0	NBEAL1	203748122	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.287000	0.95975	2.254000	0.74563	0.528000	0.53228	AAT		0.333	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			T	204039877	A	T	204039877	3	4	71	1	0	0	0	0	1	0	0	0	10190	14	1	5	6402	5	NBEAL1	2	204039877	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08	14141059	204039877	39159496	20	4810											
ANKZF1	55139	hgsc.bcm.edu	37	2	220099806	220099806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:220099806delC	ENST00000323348.5	+	10	1637	c.1463delC	c.(1462-1464)gccfs	p.A488fs	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000410034.3_Frame_Shift_Del_p.A488fs|ANKZF1_ENST00000409849.1_Frame_Shift_Del_p.A278fs	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	488						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCCAAAGCCCCTGGTCAG	0.587																																																0													49	53	51					2																	220099806		1987	4163	6150	SO:0001589	frameshift_variant	55139			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1463delC	chr2.hg19:g.220099806delC	ENSP00000321617:p.Ala488fs		Q9NVZ4	Frame_Shift_Del	DEL	ENST00000323348.5	hg19	CCDS42821.1																																																																																				0.587	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		-	220099806	C	-	220099806	7	5	71	1	0	1	0	1	0	0	0	0	693	739	26	0	1497	0	ANKZF1	2	220099806	Frame_Shift_Del	DEL	C	TCGA-A4-7996-01A-11D-2201-08	16059929	220099806	23099567	21	4811											
GIGYF2	26058	hgsc.bcm.edu	37	2	233660917	233660917	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr2:233660917A>G	ENST00000409547.1	+	16	1936	c.1625A>G	c.(1624-1626)cAg>cGg	p.Q542R	GIGYF2_ENST00000409480.1_Missense_Mutation_p.Q564R|GIGYF2_ENST00000452341.2_Missense_Mutation_p.Q373R|GIGYF2_ENST00000409451.3_Missense_Mutation_p.Q563R|GIGYF2_ENST00000409196.3_Missense_Mutation_p.Q536R|GIGYF2_ENST00000373566.3_Missense_Mutation_p.Q564R|GIGYF2_ENST00000373563.4_Missense_Mutation_p.Q542R	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	542	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAAGATCCTCAGGGAGAAATT	0.378																																																0													121	117	118					2																	233660917		2203	4300	6503	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1625A>G	chr2.hg19:g.233660917A>G	ENSP00000386537:p.Gln542Arg		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	hg19	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654738	0.88056	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;D;T;T;T;T	0.81579	-1.35;-1.33;-1.35;-1.33;-1.51;-1.32;-1.35;-1.45;-1.27	5.68	5.68	0.88126	GYF (4);	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	M	0.89658	3.05	0.80722	D	1	D;D;D;D	0.71674	0.994;0.998;0.997;0.969	D;D;D;D	0.83275	0.986;0.996;0.992;0.968	D	0.93157	0.6554	10	0.87932	D	0	-17.6236	16.2119	0.82168	1.0:0.0:0.0:0.0	.	373;563;542;536	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	R	564;485;542;564;542;542;485;536;563;536;373	ENSP00000362667:Q564R;ENSP00000362664:Q542R;ENSP00000386765:Q564R;ENSP00000386537:Q542R;ENSP00000404195:Q485R;ENSP00000387070:Q536R;ENSP00000387170:Q563R;ENSP00000410297:Q536R;ENSP00000411505:Q373R	ENSP00000362664:Q542R	Q	+	2	0	GIGYF2	233369161	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.287000	0.95975	2.288000	0.76882	0.482000	0.46254	CAG		0.378	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		G	233660917	A	G	233660917	3	3	71	1	0	0	0	0	1	0	0	0	6380	188	7	3	1741	3	GIGYF2	2	233660917	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08	13561111	233660917	9538456	22	4812											
CCR3	1232	hgsc.bcm.edu	37	3	46307340	46307340	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr3:46307340A>G	ENST00000357422.2	+	4	1234	c.691A>G	c.(691-693)Agt>Ggt	p.S231G	CCR3_ENST00000541018.1_Missense_Mutation_p.S231G|CCR3_ENST00000395942.2_Missense_Mutation_p.S231G|CCR3_ENST00000545097.1_Missense_Mutation_p.S252G|CCR3_ENST00000395940.2_Missense_Mutation_p.S231G			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	231					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GAGGTGCCCCAGTAAAAAAAA	0.463																																																0													73	72	72					3																	46307340		2203	4300	6503	SO:0001583	missense	1232			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.691A>G	chr3.hg19:g.46307340A>G	ENSP00000350003:p.Ser231Gly		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	hg19	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.712194	0.30322	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.96	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.34424	0.0897	N	0.21448	0.665	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.23150	0.036;0.044	T	0.31166	-0.9953	9	0.66056	D	0.02	.	9.5513	0.39313	0.8017:0.0:0.1983:0.0	.	252;231	F5GWL6;P51677	.;CCR3_HUMAN	G	231;252;231;231;231	ENSP00000350003:S231G;ENSP00000441600:S252G;ENSP00000440097:S231G;ENSP00000379271:S231G;ENSP00000379273:S231G	ENSP00000350003:S231G	S	+	1	0	CCR3	46282344	0.001000	0.12720	0.041000	0.18516	0.744000	0.42396	1.757000	0.38400	0.158000	0.19367	0.533000	0.62120	AGT		0.463	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			G	46307340	A	G	46307340	3	3	71	1	0	0	0	0	1	0	0	0	2944	188	7	3	760	3	CCR3	3	46307340	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08		46307340	151715090	23	4813											
GNAI2	2771	hgsc.bcm.edu	37	3	50294280	50294280	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr3:50294280A>C	ENST00000313601.6	+	6	1103	c.719A>C	c.(718-720)gAg>gCg	p.E240A	GNAI2_ENST00000440628.1_Missense_Mutation_p.E188A|GNAI2_ENST00000266027.5_Missense_Mutation_p.E224A|GNAI2_ENST00000536647.1_Missense_Mutation_p.E159A|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000422163.1_Missense_Mutation_p.E224A|GNAI2_ENST00000451956.1_Missense_Mutation_p.E203A	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	240					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GAGGACGAGGAGATGGTGAGA	0.577																																																0													113	107	109					3																	50294280		2203	4300	6503	SO:0001583	missense	2771			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.719A>C	chr3.hg19:g.50294280A>C	ENSP00000312999:p.Glu240Ala		B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	hg19	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703847	0.68501	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	4.62	4.62	0.57501	.	0.117678	0.64402	D	0.000009	T	0.67924	0.2945	M	0.77103	2.36	0.80722	D	1	B;B;B;B	0.17852	0.002;0.007;0.024;0.019	B;B;B;B	0.23852	0.049;0.049;0.049;0.029	T	0.69928	-0.5012	10	0.72032	D	0.01	.	12.3095	0.54920	1.0:0.0:0.0:0.0	.	203;240;224;224	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	A	224;240;159;240;188;203;224	ENSP00000406871:E224A;ENSP00000312999:E240A;ENSP00000444360:E159A;ENSP00000395736:E188A;ENSP00000406369:E203A;ENSP00000266027:E224A	ENSP00000266027:E224A	E	+	2	0	GNAI2	50269284	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.285000	0.78660	2.088000	0.63022	0.459000	0.35465	GAG		0.577	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		C	50294280	A	C	50294280	3	2	71	1	0	0	0	0	1	0	0	0	6507	304	11	5	752	5	GNAI2	3	50294280	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08	3986940	50294280	147728150	24	4814											
KIAA2018	205717	hgsc.bcm.edu	37	3	113376113	113376113	+	Silent	SNP	C	C	T	rs62265537|rs59601191|rs112313093|rs59990801|rs397990842|rs10606566		TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr3:113376113C>T	ENST00000478658.1	-	5	4433	c.4416G>A	c.(4414-4416)caG>caA	p.Q1472Q	KIAA2018_ENST00000316407.4_Silent_p.Q1472Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1472	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gttgctgttgctgctgctgct	0.502																																																0													68	71	70					3																	113376113		2188	4274	6462	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4416G>A	chr3.hg19:g.113376113C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	hg19	CCDS43133.1																																																																																				0.502	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113376113	C	T	113376113	2	4	71	1	0	0	0	0	0	0	0	1	8270	796	28	2		2	KIAA2018	3	113376113	Silent	SNP	C	TCGA-A4-7996-01A-11D-2201-08	63081833	113376113	84646317	25	4815											
ZXDC	79364	hgsc.bcm.edu	37	3	126194470	126194470	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr3:126194470T>C	ENST00000389709.3	-	1	292	c.239A>G	c.(238-240)gAa>gGa	p.E80G	ZXDC_ENST00000336332.5_Missense_Mutation_p.E80G	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	80					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GTGCGGCACTTCCAGCAGCAC	0.766																																																0													10	11	10					3																	126194470		1178	2759	3937	SO:0001583	missense	79364			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.239A>G	chr3.hg19:g.126194470T>C	ENSP00000374359:p.Glu80Gly		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	hg19	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	T	7.919	0.738083	0.15574	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.29142	1.58;1.58	3.22	1.97	0.26223	.	3.885840	0.01408	U	0.013872	T	0.25269	0.0614	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.10800	-1.0614	10	0.23891	T	0.37	-0.3189	3.4994	0.07668	0.0:0.1312:0.2352:0.6336	.	80;80	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	G	80	ENSP00000374359:E80G;ENSP00000337694:E80G	ENSP00000337694:E80G	E	-	2	0	ZXDC	127677160	0.000000	0.05858	0.272000	0.24630	0.077000	0.17291	0.070000	0.14573	0.233000	0.21120	0.358000	0.22013	GAA		0.766	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		C	126194470	T	C	126194470	3	2	71	1	0	0	0	0	1	0	0	0	18257	1783	62	3	2383	3	ZXDC	3	126194470	Missense_Mutation	SNP	T	TCGA-A4-7996-01A-11D-2201-08	12818357	126194470	71827960	26	4816											
C4orf36	132989	hgsc.bcm.edu	37	4	87809274	87809274	+	Splice_Site	SNP	A	A	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr4:87809274A>T	ENST00000473559.1	-	6	883	c.220T>A	c.(220-222)Tct>Act	p.S74T	C4orf36_ENST00000503001.1_5'Flank|C4orf36_ENST00000295898.3_Splice_Site_p.S74T			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	74										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AGGAACTTACATTCTGCAGAA	0.363																																																0													65	66	66					4																	87809274		2203	4300	6503	SO:0001630	splice_region_variant	132989			BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.220+1T>A	chr4.hg19:g.87809274A>T				Missense_Mutation	SNP	ENST00000473559.1	hg19	CCDS3615.1	.	.	.	.	.	.	.	.	.	.	A	7.943	0.743153	0.15642	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308;ENST00000504008	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.13	-6.29	0.02013	.	1.537520	0.03676	N	0.244784	T	0.22003	0.0530	N	0.17082	0.46	0.23249	N	0.99805	B	0.06786	0.001	B	0.08055	0.003	T	0.13764	-1.0497	9	.	.	.	0.0079	6.0792	0.19933	0.2272:0.2261:0.0:0.5468	.	74	Q96KX1	CD036_HUMAN	T	74	ENSP00000295898:S74T;ENSP00000420949:S74T;ENSP00000421141:S74T;ENSP00000422720:S74T	.	S	-	1	0	C4orf36	88028298	0.908000	0.30866	0.122000	0.21767	0.240000	0.25518	-0.311000	0.08124	-0.602000	0.05775	0.482000	0.46254	TCT		0.363	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253045.2	NM_144645	Missense_Mutation	T	87809274	A	T	87809274	5	4	71	1	0	0	0	0	0	0	1	0	2268	231	8	5	141	5	C4orf36	4	87809274	Splice_Site	SNP	A	TCGA-A4-7996-01A-11D-2201-08		87809274	103345002	27	4817											
PLK4	10733	hgsc.bcm.edu	37	4	128812805	128812805	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr4:128812805C>A	ENST00000270861.5	+	9	2281	c.2007C>A	c.(2005-2007)aaC>aaA	p.N669K	PLK4_ENST00000515069.1_Missense_Mutation_p.N591K|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000514379.1_Missense_Mutation_p.N628K|PLK4_ENST00000507249.1_Missense_Mutation_p.N608K|PLK4_ENST00000513090.1_Missense_Mutation_p.N637K	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	669					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CTACTGACAACATCAGTAGGT	0.318																																					Colon(135;508 1718 19061 31832 42879)											0													89	97	94					4																	128812805		2203	4300	6503	SO:0001583	missense	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2007C>A	chr4.hg19:g.128812805C>A	ENSP00000270861:p.Asn669Lys		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	hg19	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175146	0.57692	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.07	2.4	0.29515	.	0.153463	0.56097	D	0.000021	T	0.32255	0.0823	L	0.51422	1.61	0.35092	D	0.764371	P;P	0.47762	0.9;0.839	P;B	0.48400	0.576;0.372	T	0.41360	-0.9513	10	0.59425	D	0.04	-4.1709	7.6088	0.28118	0.1342:0.724:0.0:0.1418	.	637;669	O00444-2;O00444	.;PLK4_HUMAN	K	669;591;637;608;628	ENSP00000270861:N669K;ENSP00000421774:N591K;ENSP00000427554:N637K;ENSP00000423412:N608K;ENSP00000423582:N628K	ENSP00000270861:N669K	N	+	3	2	PLK4	129032255	0.963000	0.33076	0.983000	0.44433	0.892000	0.51952	0.033000	0.13754	0.309000	0.22966	0.467000	0.42956	AAC		0.318	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			A	128812805	C	A	128812805	3	1	71	1	0	0	0	0	1	0	0	0	12100	477	17	4	2041	4	PLK4	4	128812805	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	41003531	128812805	62341471	28	4818											
FHDC1	85462	hgsc.bcm.edu	37	4	153896859	153896859	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr4:153896859G>A	ENST00000511601.1	+	12	2604	c.2416G>A	c.(2416-2418)Ggc>Agc	p.G806S	FHDC1_ENST00000260008.3_Missense_Mutation_p.G806S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	806									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAAGGGGATGGCTCCATGTC	0.652																																																0													51	61	58					4																	153896859		2203	4300	6503	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2416G>A	chr4.hg19:g.153896859G>A	ENSP00000427567:p.Gly806Ser			Missense_Mutation	SNP	ENST00000511601.1	hg19	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	5.523	0.281358	0.10458	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.29917	1.55;1.55	4.95	3.16	0.36331	.	0.771246	0.12008	N	0.508193	T	0.16811	0.0404	L	0.29908	0.895	0.09310	N	1	P	0.39282	0.666	B	0.33339	0.162	T	0.07947	-1.0746	10	0.02654	T	1	.	10.0533	0.42230	0.0:0.1495:0.695:0.1555	.	806	Q9C0D6	FHDC1_HUMAN	S	806	ENSP00000427567:G806S;ENSP00000260008:G806S	ENSP00000260008:G806S	G	+	1	0	FHDC1	154116309	0.062000	0.20869	0.002000	0.10522	0.222000	0.24845	2.052000	0.41316	0.455000	0.26910	0.563000	0.77884	GGC		0.652	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		A	153896859	G	A	153896859	3	1	71	1	0	0	0	0	1	0	0	0	5878	1348	47	2	2458	2	FHDC1	4	153896859	Missense_Mutation	SNP	G	TCGA-A4-7996-01A-11D-2201-08	25084054	153896859	37257417	29	4819											
SLC12A7	10723	hgsc.bcm.edu	37	5	1074691	1074691	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr5:1074691T>G	ENST00000264930.5	-	16	2106	c.2063A>C	c.(2062-2064)aAg>aCg	p.K688T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	688					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCTCCAGTTCTTGGTGTGGGG	0.657																																																0													54	51	52					5																	1074691		2201	4299	6500	SO:0001583	missense	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2063A>C	chr5.hg19:g.1074691T>G	ENSP00000264930:p.Lys688Thr		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	hg19	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	17.74|17.74	3.464117|3.464117	0.63513|0.63513	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.99186|.	-5.53|.	3.81|3.81	3.81|3.81	0.43845|0.43845	Amino acid permease domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86682|0.86682	0.5991|0.5991	H|H	0.97707|0.97707	4.06|4.06	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.46912|.	0.886|.	P|.	0.46339|.	0.513|.	D|D	0.89599|0.89599	0.3833|0.3833	10|5	0.87932|.	D|.	0|.	.|.	10.8081|10.8081	0.46529|0.46529	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	688|.	Q9Y666|.	S12A7_HUMAN|.	T|H	688|45	ENSP00000264930:K688T|.	ENSP00000264930:K688T|.	K|Q	-|-	2|3	0|2	SLC12A7|SLC12A7	1127691|1127691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.335000|0.335000	0.28730|0.28730	7.076000|7.076000	0.76806|0.76806	1.501000|1.501000	0.48654|0.48654	0.260000|0.260000	0.18958|0.18958	AAG|CAA		0.657	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		G	1074691	T	G	1074691	3	3	71	1	0	0	0	0	1	0	0	0	14394	1609	56	5	1224	5	SLC12A7	5	1074691	Missense_Mutation	SNP	T	TCGA-A4-7996-01A-11D-2201-08		1074691	179840569	30	4820											
MAT2B	27430	hgsc.bcm.edu	37	5	162940576	162940577	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr5:162940576_162940577insA	ENST00000321757.6	+	3	413_414	c.274_275insA	c.(274-276)catfs	p.H92fs	MAT2B_ENST00000280969.5_Frame_Shift_Ins_p.H81fs|MAT2B_ENST00000518095.1_Frame_Shift_Ins_p.H92fs	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	92					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	TGTTATAGTACATTGTGCAGCA	0.371																																																0																																										SO:0001589	frameshift_variant	27430			AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	6905	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 23E, member 1"	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.275dupA	chr5.hg19:g.162940577_162940577dupA	ENSP00000325425:p.His92fs		B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Frame_Shift_Ins	INS	ENST00000321757.6	hg19	CCDS4365.1																																																																																				0.371	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	NM_013283		A	162940577	-	A	162940576	7	5	71	1	0	1	1	0	0	0	0	0	9333	478	17	0	318	0	MAT2B	5	162940576	Frame_Shift_Ins	INS	-	TCGA-A4-7996-01A-11D-2201-08	161865885	162940576	17974684	31	4821											
CLTB	1212	hgsc.bcm.edu	37	5	175843340	175843342	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr5:175843340_175843342delAGA	ENST00000310418.4	-	1	228_230	c.23_25delTCT	c.(22-27)ttctcg>tcg	p.F8del	CLTB_ENST00000345807.2_In_Frame_Del_p.F8del	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	8					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		TCCGACGACGAGAAGAAGCCAAA	0.724																																																0																																										SO:0001651	inframe_deletion	1212			M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"clathrin, light polypeptide (Lcb)"			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.23_25delTCT	chr5.hg19:g.175843343_175843345delAGA	ENSP00000309415:p.Phe8del		Q53Y37|Q6FHW1	In_Frame_Del	DEL	ENST00000310418.4	hg19	CCDS4403.1																																																																																				0.724	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			-	175843342	AGA	-	175843340	7	5	71	1	0	1	0	1	0	0	0	0	3567	304	11	0	688	0	CLTB	5	175843340	In_Frame_Del	DEL	AGA	TCGA-A4-7996-01A-11D-2201-08	12902764	175843340	5071920	32	4822											
F12	2161	hgsc.bcm.edu	37	5	176831350	176831350	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr5:176831350A>G	ENST00000253496.3	-	9	913	c.865T>C	c.(865-867)Tac>Cac	p.Y289H	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	289	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	AGGTCGCAGTACTCCCAGCTC	0.697									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													16	20	19					5																	176831350		2200	4296	6496	SO:0001583	missense	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.865T>C	chr5.hg19:g.176831350A>G	ENSP00000253496:p.Tyr289His	1934	P78339	Missense_Mutation	SNP	ENST00000253496.3	hg19	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.074641	0.76415	.	.	ENSG00000131187	ENST00000253496	T	0.66460	-0.21	5.45	5.45	0.79879	Kringle (5);Kringle-like fold (1);	0.000000	0.42682	D	0.000679	T	0.73497	0.3594	M	0.75150	2.29	0.80722	D	1	P	0.51537	0.946	P	0.54210	0.745	T	0.74548	-0.3629	10	0.41790	T	0.15	.	9.0885	0.36596	0.9168:0.0:0.0832:0.0	.	289	P00748	FA12_HUMAN	H	289	ENSP00000253496:Y289H	ENSP00000253496:Y289H	Y	-	1	0	F12	176763956	0.924000	0.31332	0.575000	0.28536	0.770000	0.43624	2.546000	0.45778	2.080000	0.62538	0.459000	0.35465	TAC		0.697	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			G	176831350	A	G	176831350	3	3	71	1	0	0	0	0	1	0	0	0	5341	391	14	3	1006	3	F12	5	176831350	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08	988010	176831350	4083910	33	4823											
SKIV2L	6499	hgsc.bcm.edu	37	6	31927082	31927082	+	Missense_Mutation	SNP	C	C	A	rs563036739	byFrequency	TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr6:31927082C>A	ENST00000375394.2	+	2	144	c.31C>A	c.(31-33)Cct>Act	p.P11T	NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000444811.2_5'Flank|MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000488648.1_3'UTR|NELFE_ENST00000375425.5_5'Flank|SKIV2L_ENST00000544581.1_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	11					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGTGCTACCCCCTCCAGATCC	0.602																																																0													221	230	227					6																	31927082		2203	4299	6502	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.31C>A	chr6.hg19:g.31927082C>A	ENSP00000364543:p.Pro11Thr		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	hg19	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	9.522	1.108545	0.20714	.	.	ENSG00000204351	ENST00000375394	T	0.45276	0.9	5.18	3.42	0.39159	.	0.176723	0.50627	D	0.000113	T	0.18130	0.0435	L	0.47716	1.5	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04900	-1.0919	10	0.40728	T	0.16	-13.5646	9.0377	0.36298	0.0:0.8274:0.0:0.1726	.	11	Q15477	SKIV2_HUMAN	T	11	ENSP00000364543:P11T	ENSP00000364543:P11T	P	+	1	0	SKIV2L	32035061	1.000000	0.71417	0.993000	0.49108	0.481000	0.33189	1.932000	0.40143	0.781000	0.33589	0.655000	0.94253	CCT		0.602	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			A	31927082	C	A	31927082	3	1	71	1	0	0	0	0	1	0	0	0	14365	623	22	4	37	4	SKIV2L	6	31927082	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08		31927082	139187985	34	4824											
PKHD1	5314	hgsc.bcm.edu	37	6	51930865	51930865	+	Silent	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr6:51930865A>G	ENST00000371117.3	-	12	1064	c.789T>C	c.(787-789)tcT>tcC	p.S263S	PKHD1_ENST00000340994.4_Silent_p.S263S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	263	IPT/TIG 3.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGAAACACAGATAATATTT	0.328																																																0													67	66	66					6																	51930865		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.789T>C	chr6.hg19:g.51930865A>G			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	hg19	CCDS4935.1																																																																																				0.328	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51930865	A	G	51930865	2	3	71	1	0	0	0	0	0	0	0	1	11973	175	7	3		3	PKHD1	6	51930865	Silent	SNP	A	TCGA-A4-7996-01A-11D-2201-08	20003783	51930865	119184202	35	4825											
MPP6	51678	hgsc.bcm.edu	37	7	24727063	24727075	+	Frame_Shift_Del	DEL	GACTTGAAGAAAA	GACTTGAAGAAAA	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	GACTTGAAGAAAA	GACTTGAAGAAAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr7:24727063_24727075delGACTTGAAGAAAA	ENST00000222644.5	+	12	1703_1715	c.1453_1465delGACTTGAAGAAAA	c.(1453-1467)gacttgaagaaaacafs	p.DLKKT485fs	MPP6_ENST00000409761.1_Frame_Shift_Del_p.DLKKT373fs|MPP6_ENST00000396475.2_Frame_Shift_Del_p.DLKKT485fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACAGGACTCTGACTTGAAGAAAACAGTGGATGA	0.324																																																0																																										SO:0001589	frameshift_variant	51678			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1453_1465delGACTTGAAGAAAA	chr7.hg19:g.24727063_24727075delGACTTGAAGAAAA	ENSP00000222644:p.Asp485fs		B2RAF0	Frame_Shift_Del	DEL	ENST00000222644.5	hg19	CCDS5388.1																																																																																				0.324	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			-	24727075	GACTTGAAGAAAA	-	24727063	7	5	71	1	0	1	0	1	0	0	0	0	9740	1290	45	0	1495	0	MPP6	7	24727063	Frame_Shift_Del	DEL	GACTTGAAGAAAA	TCGA-A4-7996-01A-11D-2201-08		24727063	134411600	36	4826											
ZMIZ2	83637	hgsc.bcm.edu	37	7	44807159	44807159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr7:44807159delG	ENST00000309315.4	+	19	2823	c.2700delG	c.(2698-2700)ttgfs	p.L900fs	ZMIZ2_ENST00000413916.1_Frame_Shift_Del_p.L842fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Del_p.L900fs|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000265346.7_Frame_Shift_Del_p.L874fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Del_p.L868fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	900	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTCCTACTTGGGCCCACCCG	0.552																																					NSCLC(20;604 852 1948 16908 50522)											0													145	159	155					7																	44807159		2045	4190	6235	SO:0001589	frameshift_variant	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2700delG	chr7.hg19:g.44807159delG	ENSP00000311778:p.Leu900fs		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Del	DEL	ENST00000309315.4	hg19	CCDS43576.1																																																																																				0.552	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		-	44807159	G	-	44807159	7	5	71	1	0	1	0	1	0	0	0	0	17702	1339	47	0	2770	0	ZMIZ2	7	44807159	Frame_Shift_Del	DEL	G	TCGA-A4-7996-01A-11D-2201-08	20080096	44807159	114331504	37	4827											
DOCK4	9732	hgsc.bcm.edu	37	7	111555869	111555869	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr7:111555869G>A	ENST00000437633.1	-	13	1413	c.1157C>T	c.(1156-1158)aCa>aTa	p.T386I	DOCK4_ENST00000428084.1_Missense_Mutation_p.T386I|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	386					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAGCTTCCTTGTTATGGATAC	0.368																																																0													57	53	54					7																	111555869		1820	4078	5898	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1157C>T	chr7.hg19:g.111555869G>A	ENSP00000404179:p.Thr386Ile		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	hg19	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.816438|4.816438	0.90790|0.90790	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.03580	.|3.88;3.88	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.19167	.|0.0460	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.997	.|D;D	.|0.67103	.|0.949;0.949	.|T	.|0.00003	.|-1.2602	.|10	.|0.87932	.|D	.|0	.|.	19.3311|19.3311	0.94288|0.94288	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|386;386	.|Q149N5;Q8N1I0	.|.;DOCK4_HUMAN	X|I	374|374;386;386;374;385	.|ENSP00000410746:T386I;ENSP00000404179:T386I	.|ENSP00000345432:T374I	Q|T	-|-	1|2	0|0	DOCK4|DOCK4	111343105|111343105	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.960000|0.960000	0.62799|0.62799	8.322000|8.322000	0.90000|0.90000	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	CAA|ACA		0.368	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		A	111555869	G	A	111555869	3	1	71	1	0	0	0	0	1	0	0	0	4691	1377	48	2	4903	2	DOCK4	7	111555869	Missense_Mutation	SNP	G	TCGA-A4-7996-01A-11D-2201-08	66748710	111555869	47582794	38	4828											
KIF13B	23303	hgsc.bcm.edu	37	8	28991695	28991695	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr8:28991695C>G	ENST00000524189.1	-	22	2684	c.2646G>C	c.(2644-2646)caG>caC	p.Q882H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	882					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GGGACAGATGCTGTGGCAACC	0.488																																																0													81	81	81					8																	28991695		1901	4128	6029	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2646G>C	chr8.hg19:g.28991695C>G	ENSP00000427900:p.Gln882His		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	hg19	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235189	0.58886	.	.	ENSG00000197892	ENST00000524189	T	0.10382	2.88	5.28	2.49	0.30216	.	0.057734	0.64402	D	0.000001	T	0.23094	0.0558	M	0.68317	2.08	0.80722	D	1	D	0.60575	0.988	P	0.59221	0.854	T	0.00992	-1.1488	10	0.45353	T	0.12	.	10.5748	0.45221	0.0:0.7286:0.0:0.2714	.	882	F8VPJ2	.	H	882	ENSP00000427900:Q882H	ENSP00000427900:Q882H	Q	-	3	2	KIF13B	29047614	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.458000	0.21892	0.810000	0.34279	0.650000	0.86243	CAG		0.488	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			G	28991695	C	G	28991695	3	3	71	1	0	0	0	0	1	0	0	0	8277	796	28	4	2910	4	KIF13B	8	28991695	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08		28991695	117372327	39	4829											
C8orf46	254778	hgsc.bcm.edu	37	8	67405943	67405943	+	Silent	SNP	T	T	A	rs139160272	byFrequency	TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr8:67405943T>A	ENST00000305454.3	+	1	501	c.60T>A	c.(58-60)atT>atA	p.I20I	C8orf46_ENST00000521495.1_Silent_p.I20I|C8orf46_ENST00000480005.1_Silent_p.I20I|C8orf46_ENST00000522977.1_Silent_p.I20I|C8orf46_ENST00000482608.2_Intron	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	20										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCACCGTGATTCCTTCCAAGG	0.502																																																0													124	98	107					8																	67405943		2203	4300	6503	SO:0001819	synonymous_variant	254778			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.60T>A	chr8.hg19:g.67405943T>A			B2RDC3|B4DFU4|C9J814|C9JCS3	Silent	SNP	ENST00000305454.3	hg19	CCDS6191.2																																																																																				0.502	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	NM_152765		A	67405943	T	A	67405943	2	1	71	1	0	0	0	0	0	0	0	1	2433	1771	62	5		5	C8orf46	8	67405943	Silent	SNP	T	TCGA-A4-7996-01A-11D-2201-08	38414248	67405943	78958079	40	4830											
TRAPPC9	83696	hgsc.bcm.edu	37	8	141449171	141449172	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr8:141449171_141449172delTT	ENST00000438773.2	-	3	842_843	c.709_710delAA	c.(709-711)aatfs	p.N237fs	TRAPPC9_ENST00000389327.3_Frame_Shift_Del_p.N237fs|TRAPPC9_ENST00000389328.4_Frame_Shift_Del_p.N335fs	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	237					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGAAAGTCATTCACAGAACGC	0.525																																																0																																										SO:0001589	frameshift_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.709_710delAA	chr8.hg19:g.141449171_141449172delTT	ENSP00000405060:p.Asn237fs		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Frame_Shift_Del	DEL	ENST00000438773.2	hg19	CCDS55278.1																																																																																				0.525	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		-	141449172	TT	-	141449171	7	5	71	1	0	1	0	1	0	0	0	0	16470	1493	52	0	2820	0	TRAPPC9	8	141449171	Frame_Shift_Del	DEL	TT	TCGA-A4-7996-01A-11D-2201-08	74043228	141449171	4914851	41	4831											
KCNV2	169522	hgsc.bcm.edu	37	9	2718279	2718279	+	Silent	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr9:2718279C>T	ENST00000382082.3	+	1	778	c.540C>T	c.(538-540)cgC>cgT	p.R180R		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	180					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTCCGCGCCGCTTCCTGGAGG	0.657																																																0													19	17	18					9																	2718279		2200	4292	6492	SO:0001819	synonymous_variant	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.540C>T	chr9.hg19:g.2718279C>T			Q5T6X0	Silent	SNP	ENST00000382082.3	hg19	CCDS6447.1																																																																																				0.657	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		T	2718279	C	T	2718279	2	4	71	1	0	0	0	0	0	0	0	1	8097	784	28	2		2	KCNV2	9	2718279	Silent	SNP	C	TCGA-A4-7996-01A-11D-2201-08		2718279	138495152	42	4832											
TLN1	7094	hgsc.bcm.edu	37	9	35699405	35699405	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr9:35699405C>A	ENST00000314888.9	-	51	7175	c.6822G>T	c.(6820-6822)aaG>aaT	p.K2274N	TLN1_ENST00000540444.1_Missense_Mutation_p.K2162N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2274					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCCACACGCTTTGAATGTC	0.562																																																0													158	127	137					9																	35699405		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6822G>T	chr9.hg19:g.35699405C>A	ENSP00000316029:p.Lys2274Asn		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	c	18.95	3.732220	0.69189	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.69926	-0.44;-0.44	5.79	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	M	0.81239	2.535	0.58432	D	0.999996	D	0.67145	0.996	P	0.61397	0.888	T	0.81519	-0.0896	10	0.72032	D	0.01	-23.9158	10.9276	0.47199	0.0:0.8574:0.0:0.1426	.	2274	Q9Y490	TLN1_HUMAN	N	2274;2162	ENSP00000316029:K2274N;ENSP00000442981:K2162N	ENSP00000316029:K2274N	K	-	3	2	TLN1	35689405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.766000	0.38491	1.472000	0.48140	0.651000	0.88453	AAG		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		A	35699405	C	A	35699405	3	1	71	1	0	0	0	0	1	0	0	0	15952	796	28	4	831	4	TLN1	9	35699405	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	32981126	35699405	105514026	43	4833											
OLFML2A	169611	hgsc.bcm.edu	37	9	127572163	127572163	+	Silent	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr9:127572163C>T	ENST00000373580.3	+	8	1431	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y	OLFML2A_ENST00000288815.5_Silent_p.Y263Y	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	477	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCGCCTTCTACTACAACCGCG	0.602																																																0													124	99	108					9																	127572163		2203	4300	6503	SO:0001819	synonymous_variant	169611			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1431C>T	chr9.hg19:g.127572163C>T			Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	ENST00000373580.3	hg19	CCDS6857.2																																																																																				0.602	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		T	127572163	C	T	127572163	2	4	71	1	0	0	0	0	0	0	0	1	10859	576	20	2		2	OLFML2A	9	127572163	Silent	SNP	C	TCGA-A4-7996-01A-11D-2201-08	91872758	127572163	13641268	44	4834											
CCBL1	883	hgsc.bcm.edu	37	9	131607633	131607633	+	Splice_Site	SNP	A	A	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr9:131607633A>T	ENST00000302586.3	-	2	214	c.52T>A	c.(52-54)Tgg>Agg	p.W18R	CCBL1_ENST00000320665.6_Splice_Site_p.W18R|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Splice_Site_p.W112R	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	18					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	CTGGCTCACCAGGGGTTGTAG	0.602																																																0													53	62	59					9																	131607633		2053	4192	6245	SO:0001630	splice_region_variant	883			Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.53+1T>A	chr9.hg19:g.131607633A>T			Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	hg19	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458148	0.63401	.	.	ENSG00000171097	ENST00000302586;ENST00000372610;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084;ENST00000427720	T;D;T;T;T	0.83075	-0.95;-1.68;-1.0;-0.87;0.85	5.28	5.28	0.74379	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	M	0.66378	2.025	0.80722	D	1	B;B;B;B;B	0.26081	0.141;0.047;0.018;0.047;0.019	B;B;B;B;B	0.24974	0.046;0.02;0.057;0.02;0.02	T	0.81256	-0.1015	10	0.72032	D	0.01	-3.8485	14.326	0.66521	1.0:0.0:0.0:0.0	.	112;18;18;18;18	B7Z4W5;A8K563;Q16773-2;Q16773;Q5T278	.;.;.;KAT1_HUMAN;.	R	18;19;18;112;18;18;19	ENSP00000302227:W18R;ENSP00000317342:W18R;ENSP00000399415:W112R;ENSP00000390377:W18R;ENSP00000412402:W18R	ENSP00000302227:W18R	W	-	1	0	CCBL1	130647454	0.996000	0.38824	0.998000	0.56505	0.955000	0.61496	3.509000	0.53386	2.120000	0.65058	0.460000	0.39030	TGG		0.602	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2		Missense_Mutation	T	131607633	A	T	131607633	5	4	71	1	0	0	0	0	0	0	1	0	2734	202	7	5	1264	5	CCBL1	9	131607633	Splice_Site	SNP	A	TCGA-A4-7996-01A-11D-2201-08	4035470	131607633	9605798	45	4835											
PTCHD3	374308	hgsc.bcm.edu	37	10	27687708	27687708	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:27687708A>G	ENST00000438700.3	-	4	1936	c.1819T>C	c.(1819-1821)Ttt>Ctt	p.F607L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	607					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ACATATATAAAGACTACAAAA	0.383																																																0													64	65	64					10																	27687708		2203	4300	6503	SO:0001583	missense	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1819T>C	chr10.hg19:g.27687708A>G	ENSP00000417658:p.Phe607Leu		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	hg19	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.996644	0.00044	.	.	ENSG00000182077	ENST00000438700	D	0.83914	-1.78	4.05	-0.446	0.12238	.	0.493132	0.20919	N	0.083307	T	0.41650	0.1168	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.48410	-0.9038	10	0.02654	T	1	-5.7246	0.1591	0.00101	0.2673:0.2583:0.2122:0.2622	.	607	Q3KNS1	PTHD3_HUMAN	L	607	ENSP00000417658:F607L	ENSP00000417658:F607L	F	-	1	0	PTCHD3	27727714	0.012000	0.17670	0.007000	0.13788	0.009000	0.06853	-0.796000	0.04575	-0.287000	0.09064	-0.425000	0.05940	TTT		0.383	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		G	27687708	A	G	27687708	3	3	71	1	0	0	0	0	1	0	0	0	12739	72	3	3	488	3	PTCHD3	10	27687708	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08		27687708	107847039	46	4836											
NCOA4	8031	hgsc.bcm.edu	37	10	51585156	51585156	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:51585156G>T	ENST00000443446.1	+	8	1484	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	NCOA4_ENST00000430396.2_Missense_Mutation_p.D319Y|NCOA4_ENST00000414907.2_Missense_Mutation_p.D253Y|NCOA4_ENST00000452682.1_Missense_Mutation_p.D435Y|NCOA4_ENST00000374082.1_Missense_Mutation_p.D419Y|NCOA4_ENST00000344348.6_Missense_Mutation_p.D419Y|NCOA4_ENST00000438493.1_Missense_Mutation_p.D435Y|NCOA4_ENST00000374087.4_Missense_Mutation_p.D419Y	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	419					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GTGTGTGTGTGATGAGAATTG	0.483			T	RET	papillary thyroid																																		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	0													71	74	73					10																	51585156		2203	4300	6503	SO:0001583	missense	8031			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1255G>T	chr10.hg19:g.51585156G>T	ENSP00000390713:p.Asp419Tyr		A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	hg19	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878324	0.91740	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.30981	1.99;2.0;1.7;2.0;1.51;2.0;1.7;2.0	5.6	5.6	0.85130	.	0.334273	0.35805	N	0.002979	T	0.54983	0.1892	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.994;0.997	D;P;P;P	0.63488	0.915;0.87;0.87;0.819	T	0.51593	-0.8686	9	.	.	.	-20.3172	19.608	0.95587	0.0:0.0:1.0:0.0	.	319;435;435;419	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	Y	435;435;319;419;253;419;419;419	ENSP00000405146:D435Y;ENSP00000395465:D435Y;ENSP00000393053:D319Y;ENSP00000363200:D419Y;ENSP00000411018:D253Y;ENSP00000344552:D419Y;ENSP00000363195:D419Y;ENSP00000390713:D419Y	.	D	+	1	0	NCOA4	51255162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.392000	0.97252	2.647000	0.89833	0.650000	0.86243	GAT		0.483	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		T	51585156	G	T	51585156	3	4	71	1	0	0	0	0	1	0	0	0	10233	1290	45	4	1333	4	NCOA4	10	51585156	Missense_Mutation	SNP	G	TCGA-A4-7996-01A-11D-2201-08	23897448	51585156	83949591	47	4837											
WAPAL	23063	hgsc.bcm.edu	37	10	88259986	88259986	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:88259986C>A	ENST00000298767.5	-	3	1486	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	338	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CACCCCCTTTCTTTGCCTGAT	0.448																																																0													182	152	162					10																	88259986		2203	4300	6503	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1014G>T	chr10.hg19:g.88259986C>A	ENSP00000298767:p.Lys338Asn		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	hg19	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653403	0.29425	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.29397	1.57	5.77	0.75	0.18387	.	0.497401	0.21168	N	0.079024	T	0.20901	0.0503	L	0.36672	1.1	0.80722	D	1	B;B;B	0.26809	0.099;0.099;0.16	B;B;B	0.28232	0.017;0.027;0.087	T	0.04708	-1.0932	10	0.52906	T	0.07	.	5.8006	0.18412	0.126:0.4044:0.0:0.4696	.	338;338;381	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	N	423;338;423	ENSP00000298767:K338N	ENSP00000298767:K338N	K	-	3	2	WAPAL	88249966	0.994000	0.37717	0.998000	0.56505	0.897000	0.52465	0.251000	0.18257	0.097000	0.17492	-0.145000	0.13849	AAG		0.448	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		A	88259986	C	A	88259986	3	1	71	1	0	0	0	0	1	0	0	0	17253	912	32	4	2626	4	WAPAL	10	88259986	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	36674830	88259986	47274761	48	4838											
PAPSS2	9060	hgsc.bcm.edu	37	10	89503313	89503313	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:89503313C>T	ENST00000361175.4	+	10	1760	c.1391C>T	c.(1390-1392)gCt>gTt	p.A464V	PAPSS2_ENST00000456849.1_Missense_Mutation_p.A469V|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A468V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	464					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CAGCACGCGGCTGTGCTCGAG	0.587																																																0													105	91	96					10																	89503313		2203	4300	6503	SO:0001583	missense	9060			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1391C>T	chr10.hg19:g.89503313C>T	ENSP00000354436:p.Ala464Val		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	hg19	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099439	0.94197	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.34472	1.36;1.36;1.36	5.33	5.33	0.75918	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.047627	0.85682	D	0.000000	T	0.56441	0.1985	M	0.62154	1.92	0.80722	D	1	D;D	0.63880	0.991;0.993	P;P	0.61201	0.885;0.773	T	0.54043	-0.8352	10	0.49607	T	0.09	-17.1332	19.2123	0.93760	0.0:1.0:0.0:0.0	.	464;469	O95340;O95340-2	PAPS2_HUMAN;.	V	464;469;468;468	ENSP00000354436:A464V;ENSP00000406157:A469V;ENSP00000397123:A468V	ENSP00000354436:A464V	A	+	2	0	PAPSS2	89493293	1.000000	0.71417	0.889000	0.34880	0.628000	0.37860	7.315000	0.78998	2.771000	0.95319	0.561000	0.74099	GCT		0.587	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			T	89503313	C	T	89503313	3	4	71	1	0	0	0	0	1	0	0	0	11437	797	28	2	1448	2	PAPSS2	10	89503313	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	1243327	89503313	46031434	49	4839											
PTEN	5728	hgsc.bcm.edu	37	10	89717645	89717646	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:89717645_89717646delAT	ENST00000371953.3	+	7	2027_2028	c.670_671delAT	c.(670-672)atafs	p.I224fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	224	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGGTGAAGATATATTCCTCC	0.421		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	48	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(1)|Unknown(1)	prostate(16)|central_nervous_system(10)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)																																								SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.670_671delAT	chr10.hg19:g.89717649_89717650delAT	ENSP00000361021:p.Ile224fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	hg19	CCDS31238.1																																																																																				0.421	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89717646	AT	-	89717645	7	5	71	1	0	1	0	1	0	0	0	0	12743	333	12	0	696	0	PTEN	10	89717645	Frame_Shift_Del	DEL	AT	TCGA-A4-7996-01A-11D-2201-08	214332	89717645	45817102	50	4840											
ABCC2	1244	hgsc.bcm.edu	37	10	101606844	101606844	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:101606844delG	ENST00000370449.4	+	30	4386	c.4273delG	c.(4273-4275)gggfs	p.G1425fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1425	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.G1425W(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCTGCAACTTGGGTTATCCCA	0.537																																																1	Substitution - Missense(1)	lung(1)											104	97	99					10																	101606844		2203	4300	6503	SO:0001589	frameshift_variant	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4273delG	chr10.hg19:g.101606844delG	ENSP00000359478:p.Gly1425fs		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Del	DEL	ENST00000370449.4	hg19	CCDS7484.1																																																																																				0.537	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		-	101606844	G	-	101606844	7	5	71	1	0	1	0	1	0	0	0	0	53	1348	47	0	4391	0	ABCC2	10	101606844	Frame_Shift_Del	DEL	G	TCGA-A4-7996-01A-11D-2201-08	11889199	101606844	33927903	51	4841											
MMP21	118856	hgsc.bcm.edu	37	10	127455343	127455343	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr10:127455343delT	ENST00000368808.3	-	7	1597	c.1598delA	c.(1597-1599)aagfs	p.K533fs		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	533					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	TTGTTTGTCCTTGTCATTAAC	0.363																																																0													131	131	131					10																	127455343		2203	4300	6503	SO:0001589	frameshift_variant	118856			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1598delA	chr10.hg19:g.127455343delT	ENSP00000357798:p.Lys533fs		Q5VZP9|Q8NG02	Frame_Shift_Del	DEL	ENST00000368808.3	hg19	CCDS7647.1																																																																																				0.363	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			-	127455343	T	-	127455343	7	5	71	1	0	1	0	1	0	0	0	0	9662	1609	56	0	115	0	MMP21	10	127455343	Frame_Shift_Del	DEL	T	TCGA-A4-7996-01A-11D-2201-08	25848499	127455343	8079404	52	4842											
OR52K1	390036	hgsc.bcm.edu	37	11	4510932	4510932	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:4510932C>T	ENST00000307632.3	+	1	824	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R268S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCGTGTAGCCCGCCATGCTGC	0.507																																																1	Substitution - Missense(1)	lung(1)											213	192	199					11																	4510932		2201	4298	6499	SO:0001583	missense	390036			AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"GPCR / Class A : Olfactory receptors"	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.802C>T	chr11.hg19:g.4510932C>T	ENSP00000302422:p.Arg268Cys		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	hg19	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	C	3.130	-0.178651	0.06380	.	.	ENSG00000196778	ENST00000307632	T	0.37411	1.2	4.5	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.429234	0.17846	N	0.160035	T	0.28896	0.0717	L	0.42529	1.33	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.25328	-1.0135	10	0.87932	D	0	.	6.8973	0.24262	0.1728:0.7359:0.0:0.0912	.	268	Q8NGK4	O52K1_HUMAN	C	268	ENSP00000302422:R268C	ENSP00000302422:R268C	R	+	1	0	OR52K1	4467508	0.000000	0.05858	0.723000	0.30687	0.076000	0.17211	-0.593000	0.05740	1.235000	0.43724	0.411000	0.27672	CGC		0.507	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		T	4510932	C	T	4510932	3	4	71	1	0	0	0	0	1	0	0	0	11125	652	23	1	804	1	OR52K1	11	4510932	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08		4510932	130495584	53	4843											
DENND5A	23258	hgsc.bcm.edu	37	11	9173965	9173965	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:9173965delG	ENST00000328194.3	-	13	2781	c.2461delC	c.(2461-2463)ctgfs	p.L822fs	DENND5A_ENST00000527700.1_Frame_Shift_Del_p.L165fs|DENND5A_ENST00000530044.1_Frame_Shift_Del_p.L822fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	822	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TAATGTAACAGGTGGGACCAT	0.473																																																0													268	217	234					11																	9173965		2201	4296	6497	SO:0001589	frameshift_variant	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2461delC	chr11.hg19:g.9173965delG	ENSP00000328524:p.Leu822fs		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Frame_Shift_Del	DEL	ENST00000328194.3	hg19	CCDS31423.1																																																																																				0.473	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		-	9173965	G	-	9173965	7	5	71	1	0	1	0	1	0	0	0	0	4438	991	35	0	1446	0	DENND5A	11	9173965	Frame_Shift_Del	DEL	G	TCGA-A4-7996-01A-11D-2201-08	4663033	9173965	125832551	54	4844											
SLC25A45	283130	hgsc.bcm.edu	37	11	65144060	65144060	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:65144060T>C	ENST00000527174.1	-	6	740	c.685A>G	c.(685-687)Atg>Gtg	p.M229V	SLC25A45_ENST00000526432.1_Missense_Mutation_p.M167V|SLC25A45_ENST00000360662.3_Missense_Mutation_p.M205V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.M187V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.M205V|SLC25A45_ENST00000417511.2_Missense_Mutation_p.M187V|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000398802.1_Missense_Mutation_p.M229V|SLC25A45_ENST00000377152.2_Missense_Mutation_p.M125V			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	229					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TCCATCTGCATCCGGGACTTG	0.617																																																0													92	97	95					11																	65144060		2158	4257	6415	SO:0001583	missense	283130			BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.685A>G	chr11.hg19:g.65144060T>C	ENSP00000435489:p.Met229Val		Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	hg19	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.433016	0.62844	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.58	3.41	0.39046	Mitochondrial carrier domain (2);	.	.	.	.	T	0.72566	0.3476	L	0.37630	1.12	0.37087	D	0.899261	B;B;B	0.31256	0.316;0.056;0.122	B;B;B	0.35470	0.203;0.139;0.156	T	0.73943	-0.3823	9	0.72032	D	0.01	-0.0527	8.8454	0.35168	0.0:0.0:0.3728:0.6272	.	167;205;229	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	V	229;205;229;205;125;187;187;167	ENSP00000435489:M229V;ENSP00000431769:M205V;ENSP00000381782:M229V;ENSP00000353879:M205V;ENSP00000366357:M125V;ENSP00000294187:M187V;ENSP00000407530:M187V;ENSP00000435547:M167V	ENSP00000294187:M187V	M	-	1	0	SLC25A45	64900636	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.144000	0.42197	0.866000	0.35629	0.459000	0.35465	ATG		0.617	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		C	65144060	T	C	65144060	3	2	71	1	0	0	0	0	1	0	0	0	14516	1435	50	3	185	3	SLC25A45	11	65144060	Missense_Mutation	SNP	T	TCGA-A4-7996-01A-11D-2201-08	55970095	65144060	69862456	55	4845											
RELA	5970	hgsc.bcm.edu	37	11	65423175	65423175	+	Silent	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:65423175A>G	ENST00000406246.3	-	10	1278	c.1017T>C	c.(1015-1017)gcT>gcC	p.A339A	RELA_ENST00000525693.1_Silent_p.A339A|RELA_ENST00000308639.9_Silent_p.A336A	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	339					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TGGGGACAGAAGCTGAGCTGC	0.607																																																0													79	75	77					11																	65423175		2201	4297	6498	SO:0001819	synonymous_variant	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1017T>C	chr11.hg19:g.65423175A>G			Q6GTV1|Q6SLK1	Silent	SNP	ENST00000406246.3	hg19	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	A	1.229	-0.624695	0.03636	.	.	ENSG00000173039	ENST00000426617	.	.	.	4.46	0.645	0.17782	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.817	0.18497	0.5244:0.0:0.4756:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELA	65179751	0.675000	0.27558	0.008000	0.14137	0.234000	0.25298	0.116000	0.15561	0.141000	0.18875	0.454000	0.30748	.		0.607	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		G	65423175	A	G	65423175	2	3	71	1	0	0	0	0	0	0	0	1	13222	59	3	3		3	RELA	11	65423175	Silent	SNP	A	TCGA-A4-7996-01A-11D-2201-08	279115	65423175	69583341	56	4846											
ANO1	55107	hgsc.bcm.edu	37	11	69951883	69951883	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:69951883C>T	ENST00000355303.5	+	5	1041	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ANO1_ENST00000531349.1_5'Flank|ANO1_ENST00000538023.1_Missense_Mutation_p.R246W|ANO1_ENST00000530676.1_Missense_Mutation_p.R130W|ANO1_ENST00000316296.5_Missense_Mutation_p.R218W|ANO1_ENST00000398543.2_Missense_Mutation_p.R130W	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	246					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CAGCAAAACCCGGAGCACGAT	0.488																																																0													91	90	91					11																	69951883		1928	4129	6057	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.736C>T	chr11.hg19:g.69951883C>T	ENSP00000347454:p.Arg246Trp		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	hg19	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621448	0.46736	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.93720	3.45	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89503	0.3765	9	.	.	.	.	11.6143	0.51080	0.2839:0.7161:0.0:0.0	.	218;246	Q5XXA6-3;Q5XXA6	.;ANO1_HUMAN	W	246;246;130;30;213;218;130	ENSP00000347454:R246W;ENSP00000444689:R246W;ENSP00000381551:R130W;ENSP00000436392:R213W;ENSP00000319477:R218W;ENSP00000435797:R130W	.	R	+	1	2	ANO1	69629531	0.996000	0.38824	1.000000	0.80357	0.109000	0.19521	3.489000	0.53237	2.437000	0.82529	0.650000	0.86243	CGG		0.488	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		T	69951883	C	T	69951883	3	4	71	1	0	0	0	0	1	0	0	0	695	643	23	1	754	1	ANO1	11	69951883	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	4528708	69951883	65054633	57	4847											
ZC3H12C	85463	hgsc.bcm.edu	37	11	110007683	110007683	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:110007683T>C	ENST00000278590.3	+	2	368	c.317T>C	c.(316-318)aTt>aCt	p.I106T	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.I107T|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.I75T	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	106							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTGGGTAGCATTTCAGTAGAG	0.448																																																0													42	41	41					11																	110007683		1893	4130	6023	SO:0001583	missense	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.317T>C	chr11.hg19:g.110007683T>C	ENSP00000278590:p.Ile106Thr		B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	hg19	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	t	0.015	-1.546583	0.00926	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.29917	1.55;1.55;1.56	5.42	4.29	0.51040	.	.	.	.	.	T	0.18759	0.0450	N	0.25647	0.755	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.11329	0.005;0.006;0.006	T	0.31475	-0.9942	9	0.13853	T	0.58	-1.7133	6.4988	0.22158	0.0:0.1421:0.1326:0.7254	.	107;106;106	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	T	106;107;75	ENSP00000278590:I106T;ENSP00000431821:I107T;ENSP00000413094:I75T	ENSP00000278590:I106T	I	+	2	0	ZC3H12C	109512893	0.003000	0.15002	0.297000	0.24988	0.069000	0.16628	0.578000	0.23773	0.902000	0.36520	0.528000	0.53228	ATT		0.448	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		C	110007683	T	C	110007683	3	2	71	1	0	0	0	0	1	0	0	0	17568	1493	52	3	323	3	ZC3H12C	11	110007683	Missense_Mutation	SNP	T	TCGA-A4-7996-01A-11D-2201-08	40055800	110007683	24998833	58	4848											
DRD2	1813	hgsc.bcm.edu	37	11	113295344	113295344	+	Silent	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr11:113295344A>G	ENST00000362072.3	-	2	374	c.30T>C	c.(28-30)gaT>gaC	p.D10D	DRD2_ENST00000538967.1_Silent_p.D10D|DRD2_ENST00000542968.1_Silent_p.D10D|DRD2_ENST00000355319.2_Silent_p.D10D|DRD2_ENST00000346454.3_Silent_p.D10D|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000544518.1_Silent_p.D10D	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	10					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCAGATCATCATCATACCAGG	0.587																																																0													116	103	107					11																	113295344		2201	4296	6497	SO:0001819	synonymous_variant	1813			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.30T>C	chr11.hg19:g.113295344A>G			Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	hg19	CCDS8361.1																																																																																				0.587	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		G	113295344	A	G	113295344	2	3	71	1	0	0	0	0	0	0	0	1	4759	214	8	3		3	DRD2	11	113295344	Silent	SNP	A	TCGA-A4-7996-01A-11D-2201-08	3287661	113295344	21711172	59	4849											
FAM113B	91523	hgsc.bcm.edu	37	12	47628909	47628909	+	Silent	SNP	G	G	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr12:47628909G>T	ENST00000546455.1	+	4	794	c.63G>T	c.(61-63)ctG>ctT	p.L21L	PCED1B_ENST00000432328.1_Silent_p.L21L|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	21							hydrolase activity (GO:0016787)										TGGTCATCCTGGGGGACTCTG	0.602																																																0													73	71	72					12																	47628909		2203	4300	6503	SO:0001819	synonymous_variant	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.63G>T	chr12.hg19:g.47628909G>T			Q96B20	Silent	SNP	ENST00000546455.1	hg19	CCDS8752.1																																																																																				0.602	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		T	47628909	G	T	47628909	2	4	71	1	0	0	0	0	0	0	0	1	5404	1335	47	4		4	FAM113B	12	47628909	Silent	SNP	G	TCGA-A4-7996-01A-11D-2201-08		47628909	86222986	60	4850											
TMEM120B	144404	hgsc.bcm.edu	37	12	122190050	122190050	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr12:122190050G>A	ENST00000449592.2	+	5	483	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	128						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CTACAAGGACGAATATGAGAA	0.577																																																0													111	130	124					12																	122190050		2155	4240	6395	SO:0001583	missense	144404			BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.382G>A	chr12.hg19:g.122190050G>A	ENSP00000404991:p.Glu128Lys		A0PK01|B3KX33	Missense_Mutation	SNP	ENST00000449592.2	hg19	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129163	0.94473	.	.	ENSG00000188735	ENST00000449592;ENST00000541467	T;T	0.42513	0.97;0.97	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81391	-0.0954	10	0.87932	D	0	-29.3312	15.8383	0.78818	0.0:0.0:1.0:0.0	.	128	A0PK00	T120B_HUMAN	K	128;107	ENSP00000404991:E128K;ENSP00000442105:E107K	ENSP00000345152:E128K	E	+	1	0	TMEM120B	120674433	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	9.405000	0.97313	2.387000	0.81309	0.491000	0.48974	GAA		0.577	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		A	122190050	G	A	122190050	3	1	71	1	0	0	0	0	1	0	0	0	16039	1059	37	1	400	1	TMEM120B	12	122190050	Missense_Mutation	SNP	G	TCGA-A4-7996-01A-11D-2201-08	74561141	122190050	11661845	61	4851											
DYNC1H1	1778	hgsc.bcm.edu	37	14	102500785	102500785	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr14:102500785A>G	ENST00000360184.4	+	56	10914	c.10750A>G	c.(10750-10752)Aat>Gat	p.N3584D	DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3584	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAACGATTCAATAGGTATGA	0.473																																																0													94	85	88					14																	102500785		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10750A>G	chr14.hg19:g.102500785A>G	ENSP00000348965:p.Asn3584Asp		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	hg19	CCDS9966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.89|14.89	2.671516|2.671516	0.47781|0.47781	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000360184|ENST00000553423	T|.	0.52057|.	0.68|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72358|0.72358	0.3450|0.3450	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	D|.	0.60160|.	0.987|.	D|.	0.63488|.	0.915|.	T|T	0.72491|0.72491	-0.4277|-0.4277	10|5	0.41790|.	T|.	0.15|.	.|.	15.2984|15.2984	0.73928|0.73928	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3584|.	Q14204|.	DYHC1_HUMAN|.	D|R	3584|59	ENSP00000348965:N3584D|.	ENSP00000348965:N3584D|.	N|Q	+|+	1|2	0|0	DYNC1H1|DYNC1H1	101570538|101570538	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.411000|0.411000	0.31082|0.31082	7.417000|7.417000	0.80156|0.80156	2.090000|2.090000	0.63153|0.63153	0.482000|0.482000	0.46254|0.46254	AAT|CAA		0.473	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102500785	A	G	102500785	3	3	71	1	0	0	0	0	1	0	0	0	4843	130	5	3	10972	3	DYNC1H1	14	102500785	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08		102500785	4848755	62	4852											
NTRK3	4916	hgsc.bcm.edu	37	15	88679229	88679229	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr15:88679229G>C	ENST00000360948.2	-	8	969	c.808C>G	c.(808-810)Ctg>Gtg	p.L270V	NTRK3_ENST00000317501.3_Missense_Mutation_p.L270V|NTRK3_ENST00000557856.1_Missense_Mutation_p.L270V|NTRK3_ENST00000355254.2_Missense_Mutation_p.L270V|NTRK3_ENST00000542733.2_Missense_Mutation_p.L172V|NTRK3_ENST00000540489.2_Missense_Mutation_p.L270V|NTRK3_ENST00000558676.1_Missense_Mutation_p.L270V|NTRK3_ENST00000394480.2_Missense_Mutation_p.L270V|NTRK3_ENST00000357724.2_Missense_Mutation_p.L270V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	270	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L270M(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACATTCACCAGCGTCAAGTTG	0.478			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	1	Substitution - Missense(1)	lung(1)											241	164	190					15																	88679229		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.808C>G	chr15.hg19:g.88679229G>C	ENSP00000354207:p.Leu270Val		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	hg19	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422428	0.62622	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.51	4.6	0.57074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.072619	0.56097	D	0.000024	T	0.75982	0.3924	L	0.57536	1.79	0.47819	D	0.999528	D;D;P;D;D;P	0.71674	0.967;0.969;0.87;0.998;0.969;0.87	P;P;P;D;P;P	0.69824	0.808;0.645;0.777;0.966;0.594;0.718	T	0.76515	-0.2931	10	0.54805	T	0.06	.	10.3176	0.43747	0.1599:0.0:0.8401:0.0	.	172;270;270;270;270;270	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	V	270;270;270;270;172;270;270	ENSP00000377990:L270V;ENSP00000354207:L270V;ENSP00000350356:L270V;ENSP00000347397:L270V;ENSP00000437773:L172V;ENSP00000444673:L270V;ENSP00000318328:L270V	ENSP00000318328:L270V	L	-	1	2	NTRK3	86480233	1.000000	0.71417	0.940000	0.37924	0.891000	0.51852	4.245000	0.58734	1.336000	0.45506	-0.253000	0.11424	CTG		0.478	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				C	88679229	G	C	88679229	3	2	71	1	0	0	0	0	1	0	0	0	10710	962	34	4	2021	4	NTRK3	15	88679229	Missense_Mutation	SNP	G	TCGA-A4-7996-01A-11D-2201-08		88679229	13852163	63	4853											
ACAN	176	hgsc.bcm.edu	37	15	89398462	89398462	+	Silent	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr15:89398462C>T	ENST00000561243.1	+	11	2646	c.2646C>T	c.(2644-2646)ttC>ttT	p.F882F	ACAN_ENST00000559004.1_Silent_p.F882F|ACAN_ENST00000439576.2_Silent_p.F882F|ACAN_ENST00000352105.7_Silent_p.F882F			P16112	PGCA_HUMAN	aggrecan	881	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACCTTGACTTCAGTGGGCAGC	0.597																																																0													59	65	63					15																	89398462		2009	4185	6194	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2646C>T	chr15.hg19:g.89398462C>T			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	hg19	CCDS53970.1																																																																																				0.597	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		T	89398462	C	T	89398462	2	4	71	1	0	0	0	0	0	0	0	1	117	825	29	2		2	ACAN	15	89398462	Silent	SNP	C	TCGA-A4-7996-01A-11D-2201-08	719233	89398462	13132930	64	4854											
RHCG	51458	hgsc.bcm.edu	37	15	90026327	90026327	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr15:90026327T>C	ENST00000268122.4	-	3	561	c.493A>G	c.(493-495)Aat>Gat	p.N165D	RHCG_ENST00000544600.1_Missense_Mutation_p.N165D	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	165					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					ATGAACTCATTCACAGCGAAG	0.537																																																0													68	51	57					15																	90026327		2200	4299	6499	SO:0001583	missense	51458			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.493A>G	chr15.hg19:g.90026327T>C	ENSP00000268122:p.Asn165Asp		A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	hg19	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.811144	0.70797	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.23147	1.92;1.92	5.47	5.47	0.80525	Ammonium transporter AmtB-like (3);	0.089021	0.85682	D	0.000000	T	0.63570	0.2522	H	0.95611	3.695	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.72075	0.976;0.976	T	0.76181	-0.3053	9	.	.	.	-18.2072	15.5452	0.76093	0.0:0.0:0.0:1.0	.	165;165	A8K4D4;Q9UBD6	.;RHCG_HUMAN	D	165;165;156	ENSP00000438123:N165D;ENSP00000268122:N165D	.	N	-	1	0	RHCG	87827331	1.000000	0.71417	0.940000	0.37924	0.612000	0.37316	5.740000	0.68629	2.076000	0.62316	0.533000	0.62120	AAT		0.537	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		C	90026327	T	C	90026327	3	2	71	1	0	0	0	0	1	0	0	0	13332	1783	62	3	978	3	RHCG	15	90026327	Missense_Mutation	SNP	T	TCGA-A4-7996-01A-11D-2201-08	627865	90026327	12505065	65	4855											
BAIAP3	8938	hgsc.bcm.edu	37	16	1398015	1398021	+	Splice_Site	DEL	ACTTGTG	ACTTGTG	-	rs112608838		TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	ACTTGTG	ACTTGTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr16:1398015_1398021delACTTGTG	ENST00000324385.5	+	32	3409_3412	c.3251_3254delACTTGTG	c.(3250-3255)tacttg>tg	p.YL1084fs	BAIAP3_ENST00000426824.3_Splice_Site_p.YL1049fs|BAIAP3_ENST00000397489.1_Splice_Site_p.YL1066fs|BAIAP3_ENST00000421665.2_Splice_Site_p.YL1013fs|BAIAP3_ENST00000562208.1_Splice_Site_p.YL1026fs|BAIAP3_ENST00000568887.1_Splice_Site_p.YL1021fs|BAIAP3_ENST00000397488.2_Splice_Site_p.YL1066fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1084	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GAACTCTTCTACTTGTGAGTGTCCTAa	0.657																																																0																																										SO:0001630	splice_region_variant	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3254+1ACTTGTG>-	chr16.hg19:g.1398015_1398021delACTTGTG			A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Frame_Shift_Del	DEL	ENST00000324385.5	hg19	CCDS10434.1																																																																																				0.657	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3		Frame_Shift_Del	-	1398021	ACTTGTG	-	1398015	8	5	71	1	0	1	0	1	0	0	1	0	1304	391	14	0	3377	0	BAIAP3	16	1398015	Splice_Site	DEL	ACTTGTG	TCGA-A4-7996-01A-11D-2201-08		1398015	88956738	66	4856	49	2									
BAIAP3	8938	hgsc.bcm.edu	37	16	1398016	1398016	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr16:1398016C>G	ENST00000324385.5	+	32	3410	c.3252C>G	c.(3250-3252)taC>taG	p.Y1084*	BAIAP3_ENST00000426824.3_Nonsense_Mutation_p.Y1049*|BAIAP3_ENST00000397489.1_Nonsense_Mutation_p.Y1066*|BAIAP3_ENST00000421665.2_Nonsense_Mutation_p.Y1013*|BAIAP3_ENST00000562208.1_Nonsense_Mutation_p.Y1026*|BAIAP3_ENST00000568887.1_Nonsense_Mutation_p.Y1021*|BAIAP3_ENST00000397488.2_Nonsense_Mutation_p.Y1066*	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1084	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AACTCTTCTACTTGTGAGTGT	0.652																																																0													50	50	50					16																	1398016		2198	4300	6498	SO:0001587	stop_gained	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3252C>G	chr16.hg19:g.1398016C>G	ENSP00000324510:p.Tyr1084*		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Nonsense_Mutation	SNP	ENST00000324385.5	hg19	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	C	38	6.826251	0.97865	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	4.65	1.6	0.23607	.	0.402932	0.24625	N	0.036938	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1567	6.7323	0.23390	0.0:0.6052:0.0:0.3948	.	.	.	.	X	1049;1066;1084;1066;1013	.	ENSP00000324510:Y1084X	Y	+	3	2	BAIAP3	1338017	0.998000	0.40836	0.998000	0.56505	0.087000	0.18053	0.792000	0.26929	0.068000	0.16574	-0.258000	0.10820	TAC		0.652	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			G	1398016	C	G	1398016	4	3	71	1	0	0	0	0	0	1	0	0	1304	576	20	4	3378	4	BAIAP3	16	1398016	Nonsense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	1	1398016	88956737	67	4857	49	2									
PRSS22	64063	hgsc.bcm.edu	37	16	2905588	2905589	+	Missense_Mutation	DNP	GC	GC	AT	rs556704172		TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr16:2905588_2905589GC>AT	ENST00000161006.3	-	4	610_611	c.545_546GC>AT	c.(544-546)aGC>aAT	p.S182N	LA16c-325D7.1_ENST00000577140.1_RNA|PRSS22_ENST00000571228.1_Intron|PRSS22_ENST00000574768.1_5'Flank	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	182	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CATCTTGGATGCTCCCCCAGCC	0.589																																																0																																										SO:0001583	missense	64063			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"Serine peptidases / Serine peptidases"	14368	protein-coding gene	gene with protein product	"brain-specific serine protease 4"	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.545_546delinsAT	chr16.hg19:g.2905588_2905589delinsAT	ENSP00000161006:p.Ser182Asn		O43342|Q6UXE0	Silent|Missense_Mutation	SNP	ENST00000161006.3	hg19	CCDS10481.1																																																																																				0.589	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		AT	2905589	GC	AT	2905588	3	1	71	1	0	0	0	0	1	0	0	0	12624	1310	46	2	419	2	PRSS22	16	2905588	Missense_Mutation	DNP	GC	TCGA-A4-7996-01A-11D-2201-08	1507572	2905588	87449165	68	4858											
ZNF200	7752	hgsc.bcm.edu	37	16	3274128	3274128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr16:3274128delG	ENST00000431561.3	-	5	1564	c.952delC	c.(952-954)cgtfs	p.R318fs	ZNF200_ENST00000396871.4_Frame_Shift_Del_p.R317fs|ZNF200_ENST00000396870.4_Frame_Shift_Del_p.R317fs|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Frame_Shift_Del_p.R317fs|ZNF200_ENST00000396868.3_Frame_Shift_Del_p.R317fs|ZNF200_ENST00000414144.2_Frame_Shift_Del_p.R318fs	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GAATTCTGACGGAAGTTTTTT	0.393																																																0													110	110	110					16																	3274128		2197	4300	6497	SO:0001589	frameshift_variant	7752			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"Zinc fingers, C2H2-type"	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.952delC	chr16.hg19:g.3274128delG	ENSP00000395723:p.Arg318fs		D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Frame_Shift_Del	DEL	ENST00000431561.3	hg19	CCDS10497.1																																																																																				0.393	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			-	3274128	G	-	3274128	7	5	71	1	0	1	0	1	0	0	0	0	17767	1116	39	0	239	0	ZNF200	16	3274128	Frame_Shift_Del	DEL	G	TCGA-A4-7996-01A-11D-2201-08	368540	3274128	87080625	69	4859											
PSMB10	5699	hgsc.bcm.edu	37	16	67970649	67970649	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr16:67970649G>C	ENST00000358514.4	-	1	341	c.4C>G	c.(4-6)Ctg>Gtg	p.L2V	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	2					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)|cell morphogenesis (GO:0000902)|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)|humoral immune response (GO:0006959)|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)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	GCTGGCTTCAGCATCTTGGGG	0.657																																																0													6	9	8					16																	67970649		2068	4126	6194	SO:0001583	missense	5699			Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"Proteasome (prosome, macropain) subunits"	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.4C>G	chr16.hg19:g.67970649G>C	ENSP00000351314:p.Leu2Val		B2R5J4|Q5U098	Missense_Mutation	SNP	ENST00000358514.4	hg19	CCDS10853.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368139	0.61513	.	.	ENSG00000205220	ENST00000358514	T	0.29917	1.55	5.44	3.45	0.39498	.	0.789141	0.11429	N	0.564987	T	0.22322	0.0538	L	0.34521	1.04	0.31055	N	0.714774	B	0.21225	0.053	B	0.17722	0.019	T	0.14783	-1.0460	10	0.33940	T	0.23	-0.1279	7.6089	0.28118	0.1898:0.0:0.8102:0.0	.	2	P40306	PSB10_HUMAN	V	2	ENSP00000351314:L2V	ENSP00000351314:L2V	L	-	1	2	PSMB10	66528150	0.741000	0.28217	0.993000	0.49108	0.082000	0.17680	0.926000	0.28804	1.422000	0.47177	0.549000	0.68633	CTG		0.657	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	NM_002801		C	67970649	G	C	67970649	3	2	71	1	0	0	0	0	1	0	0	0	12680	962	34	4	849	4	PSMB10	16	67970649	Missense_Mutation	SNP	G	TCGA-A4-7996-01A-11D-2201-08	64696521	67970649	22384104	70	4860											
TRAF4	9618	hgsc.bcm.edu	37	17	27074242	27074243	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr17:27074242_27074243insC	ENST00000262395.5	+	2	284_285	c.155_156insC	c.(154-159)ttcaagfs	p.K53fs	TRAF4_ENST00000262396.6_Frame_Shift_Ins_p.K53fs|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_Frame_Shift_Ins_p.K53fs|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	53					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GAAGGAGTCTTCAAGTGCCCTG	0.594																																																0																																										SO:0001589	frameshift_variant	9618			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.156dupC	chr17.hg19:g.27074243_27074243dupC	ENSP00000262395:p.Lys53fs		O75615|Q14848|Q2KJU4|Q2PJN8	Frame_Shift_Ins	INS	ENST00000262395.5	hg19	CCDS11243.1																																																																																				0.594	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		C	27074243	-	C	27074242	7	5	71	1	0	1	1	0	0	0	0	0	16448	1783	62	0	161	0	TRAF4	17	27074242	Frame_Shift_Ins	INS	-	TCGA-A4-7996-01A-11D-2201-08		27074242	54120968	71	4861											
SSH2	85464	hgsc.bcm.edu	37	17	27975326	27975326	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr17:27975326C>A	ENST00000269033.3	-	13	1333	c.1182G>T	c.(1180-1182)atG>atT	p.M394I	SSH2_ENST00000540801.1_Missense_Mutation_p.M421I|RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.11_ENST00000582881.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	394	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTCACCCCCATTTTGCAGT	0.443																																																0													89	78	82					17																	27975326		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1182G>T	chr17.hg19:g.27975326C>A	ENSP00000269033:p.Met394Ile		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	hg19	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803091	0.96960	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	D;D	0.85411	-1.98;-1.98	5.95	5.95	0.96441	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.94611	0.8263	M	0.94101	3.495	0.80722	D	1	P;P;P	0.50710	0.526;0.895;0.938	P;P;D	0.65233	0.701;0.647;0.933	D	0.94987	0.8131	10	0.87932	D	0	-16.2523	20.3932	0.98965	0.0:1.0:0.0:0.0	.	421;394;394	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	I	394;421;394	ENSP00000269033:M394I;ENSP00000444743:M421I	ENSP00000269033:M394I	M	-	3	0	SSH2	24999452	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	ATG		0.443	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		A	27975326	C	A	27975326	3	1	71	1	0	0	0	0	1	0	0	0	15190	594	21	4	3101	4	SSH2	17	27975326	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	901084	27975326	53219884	72	4862											
WIPF2	147179	hgsc.bcm.edu	37	17	38416825	38416825	+	Silent	SNP	G	G	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr17:38416825G>A	ENST00000323571.4	+	3	342	c.102G>A	c.(100-102)caG>caA	p.Q34Q	WIPF2_ENST00000585043.1_Silent_p.Q34Q|WIPF2_ENST00000394103.3_Silent_p.Q34Q|WIPF2_ENST00000583130.1_Silent_p.Q34Q|WIPF2_ENST00000536600.1_Silent_p.Q34Q|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	34					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GAGATGAGCAGCGGGGTCGAG	0.522										HNSCC(43;0.11)																																						0													101	89	93					17																	38416825		2203	4300	6503	SO:0001819	synonymous_variant	147179			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.102G>A	chr17.hg19:g.38416825G>A			A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	hg19	CCDS11364.1																																																																																				0.522	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		A	38416825	G	A	38416825	2	1	71	1	0	0	0	0	0	0	0	1	17373	962	34	2		2	WIPF2	17	38416825	Silent	SNP	G	TCGA-A4-7996-01A-11D-2201-08	10441499	38416825	42778385	73	4863											
FAM59A	64762	hgsc.bcm.edu	37	18	29867256	29867256	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr18:29867256A>G	ENST00000269209.6	-	4	1307	c.1304T>C	c.(1303-1305)tTc>tCc	p.F435S	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Missense_Mutation_p.F435S			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	435					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										AGCTTCTGGGAAAAGGTAGTC	0.557																																																0													103	109	107					18																	29867256		2203	4300	6503	SO:0001583	missense	64762			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1304T>C	chr18.hg19:g.29867256A>G	ENSP00000269209:p.Phe435Ser		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	hg19	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.336778	0.01287	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.13538	2.58;2.58	5.65	5.65	0.86999	.	0.136032	0.64402	D	0.000002	T	0.09468	0.0233	N	0.12182	0.205	0.58432	D	0.99999	B;B	0.17852	0.024;0.012	B;B	0.20577	0.03;0.019	T	0.28839	-1.0031	10	0.22109	T	0.4	-29.2932	16.1512	0.81624	1.0:0.0:0.0:0.0	.	435;435	Q9H706;Q9H706-3	FA59A_HUMAN;.	S	435	ENSP00000382165:F435S;ENSP00000269209:F435S	ENSP00000269209:F435S	F	-	2	0	FAM59A	28121254	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.042000	0.76565	2.275000	0.75901	0.459000	0.35465	TTC		0.557	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		G	29867256	A	G	29867256	3	3	71	1	0	0	0	0	1	0	0	0	5594	246	9	3	1335	3	FAM59A	18	29867256	Missense_Mutation	SNP	A	TCGA-A4-7996-01A-11D-2201-08		29867256	48209992	74	4864											
ZNF516	9658	hgsc.bcm.edu	37	18	74154041	74154041	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr18:74154041C>T	ENST00000443185.2	-	3	1287	c.970G>A	c.(970-972)Gag>Aag	p.E324K	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATCACCTCCTCCTGGACCACG	0.602																																																0													64	73	70					18																	74154041		2178	4264	6442	SO:0001583	missense	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.970G>A	chr18.hg19:g.74154041C>T	ENSP00000394757:p.Glu324Lys			Missense_Mutation	SNP	ENST00000443185.2	hg19		.	.	.	.	.	.	.	.	.	.	C	25.9	4.681412	0.88542	.	.	ENSG00000101493	ENST00000443185	T	0.11495	2.77	4.97	4.97	0.65823	.	0.095344	0.49916	D	0.000140	T	0.36138	0.0956	.	.	.	0.54753	D	0.999984	D	0.76494	0.999	D	0.80764	0.994	T	0.12604	-1.0541	9	0.62326	D	0.03	-3.4552	18.4275	0.90614	0.0:1.0:0.0:0.0	.	324	Q92618	ZN516_HUMAN	K	324	ENSP00000394757:E324K	ENSP00000394757:E324K	E	-	1	0	ZNF516	72283029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.572000	0.67411	2.578000	0.87016	0.655000	0.94253	GAG		0.602	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		T	74154041	C	T	74154041	3	4	71	1	0	0	0	0	1	0	0	0	17965	864	30	2	2542	2	ZNF516	18	74154041	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	44286785	74154041	3923207	75	4865											
PTPRS	5802	hgsc.bcm.edu	37	19	5208061	5208061	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr19:5208061C>A	ENST00000587303.1	-	36	5749	c.5650G>T	c.(5650-5652)Gtg>Ttg	p.V1884L	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.V1864L|PTPRS_ENST00000588012.1_Missense_Mutation_p.V1846L|PTPRS_ENST00000592099.1_Missense_Mutation_p.V1437L|PTPRS_ENST00000348075.2_Missense_Mutation_p.V1846L|PTPRS_ENST00000353284.2_Missense_Mutation_p.V1437L|PTPRS_ENST00000357368.4_Missense_Mutation_p.V1884L|PTPRS_ENST00000372412.4_Missense_Mutation_p.V1885L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1884	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTCCTGCCCACGCCGGCACTG	0.602																																																0													53	41	45					19																	5208061		2203	4300	6503	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5650G>T	chr19.hg19:g.5208061C>A	ENSP00000467537:p.Val1884Leu		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	hg19	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070068	0.76301	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88	2.78	2.78	0.32641	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.56097	U	0.000021	D	0.91365	0.7276	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D;D	0.67145	0.978;0.97;0.996;0.992;0.994;0.993	D;P;D;D;D;D	0.85130	0.927;0.877;0.995;0.97;0.997;0.997	D	0.92491	0.6000	10	0.87932	D	0	.	13.6312	0.62196	0.0:1.0:0.0:0.0	.	1466;1437;1441;1846;1884;1479	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	L	1479;1885;1884;1884;1875;1864;1846;1466;1441;1437	ENSP00000361489:V1885L;ENSP00000349932:V1884L;ENSP00000262963:V1864L;ENSP00000269907:V1846L;ENSP00000327313:V1437L	ENSP00000262963:V1864L	V	-	1	0	PTPRS	5159061	1.000000	0.71417	0.990000	0.47175	0.547000	0.35210	7.562000	0.82300	1.397000	0.46682	0.471000	0.43371	GTG		0.602	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5208061	C	A	5208061	3	1	71	1	0	0	0	0	1	0	0	0	12817	536	19	4	204	4	PTPRS	19	5208061	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08		5208061	53920922	76	4866											
CD209	30835	hgsc.bcm.edu	37	19	7810714	7810714	+	Silent	SNP	G	G	A			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr19:7810714G>A	ENST00000315599.7	-	4	460	c.438C>T	c.(436-438)atC>atT	p.I146I	CD209_ENST00000315591.8_Silent_p.I122I|CD209_ENST00000601256.1_Silent_p.I122I|CD209_ENST00000301357.8_Intron|CD209_ENST00000204801.8_Silent_p.I102I|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Silent_p.I102I|CD209_ENST00000593660.1_Silent_p.I122I|CD209_ENST00000602261.1_Silent_p.I146I|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Silent_p.I146I|CD209_ENST00000601951.1_Silent_p.I122I	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	146	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTCCTGGTAGATCTCCTGCA	0.547																																																0													106	105	105					19																	7810714		2197	4299	6496	SO:0001819	synonymous_variant	30835			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.438C>T	chr19.hg19:g.7810714G>A			A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	hg19	CCDS12186.1																																																																																				0.547	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		A	7810714	G	A	7810714	2	1	71	1	0	0	0	0	0	0	0	1	2986	932	33	2		2	CD209	19	7810714	Silent	SNP	G	TCGA-A4-7996-01A-11D-2201-08	2602653	7810714	51318269	77	4867											
BRD4	23476	hgsc.bcm.edu	37	19	15350519	15350519	+	Silent	SNP	C	C	T			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr19:15350519C>T	ENST00000263377.2	-	16	3617	c.3396G>A	c.(3394-3396)gaG>gaA	p.E1132E		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1132	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTTGGGGGGCTCCGGCCGCA	0.711			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													19	26	24					19																	15350519		2159	4231	6390	SO:0001819	synonymous_variant	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3396G>A	chr19.hg19:g.15350519C>T			O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	hg19	CCDS12328.1																																																																																				0.711	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		T	15350519	C	T	15350519	2	4	71	1	0	0	0	0	0	0	0	1	1506	796	28	2		2	BRD4	19	15350519	Silent	SNP	C	TCGA-A4-7996-01A-11D-2201-08	7539805	15350519	43778464	78	4868											
FCGBP	8857	hgsc.bcm.edu	37	19	40419757	40419757	+	Silent	SNP	A	A	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr19:40419757A>G	ENST00000221347.6	-	6	3244	c.3237T>C	c.(3235-3237)caT>caC	p.H1079H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1079	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGCTTGCTATGGCACTCCC	0.642																																																0													70	65	67					19																	40419757		2203	4300	6503	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3237T>C	chr19.hg19:g.40419757A>G			O95784	Silent	SNP	ENST00000221347.6	hg19	CCDS12546.1																																																																																				0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		G	40419757	A	G	40419757	2	3	71	1	0	0	0	0	0	0	0	1	5780	446	16	3		3	FCGBP	19	40419757	Silent	SNP	A	TCGA-A4-7996-01A-11D-2201-08	25069238	40419757	18709226	79	4869											
HRC	3270	hgsc.bcm.edu	37	19	49658077	49658077	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr19:49658077C>G	ENST00000252825.4	-	1	604	c.418G>C	c.(418-420)Gaa>Caa	p.E140Q	TRPM4_ENST00000427978.2_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.E140Q|TRPM4_ENST00000252826.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	140	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCGTGTCTTCACTCCCGTGG	0.597																																					Melanoma(37;75 1097 24567 25669 30645)											0													176	128	144					19																	49658077		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.418G>C	chr19.hg19:g.49658077C>G	ENSP00000252825:p.Glu140Gln		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	hg19	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264155	0.59431	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.06933	3.24	2.6	2.6	0.31112	.	.	.	.	.	T	0.24624	0.0597	M	0.73217	2.22	0.23923	N	0.996455	D	0.89917	1.0	D	0.79108	0.992	T	0.03000	-1.1084	9	0.35671	T	0.21	-0.6964	11.3389	0.49520	0.0:1.0:0.0:0.0	.	140	P23327	SRCH_HUMAN	Q	140;110	ENSP00000252825:E140Q	ENSP00000252825:E140Q	E	-	1	0	HRC	54349889	0.062000	0.20869	0.037000	0.18230	0.019000	0.09904	1.982000	0.40638	1.775000	0.52247	0.462000	0.41574	GAA		0.597	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		G	49658077	C	G	49658077	3	3	71	1	0	0	0	0	1	0	0	0	7354	835	29	4	1705	4	HRC	19	49658077	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	9238320	49658077	9470906	80	4870											
VN1R2	317701	hgsc.bcm.edu	37	19	53762787	53762787	+	Nonsense_Mutation	SNP	C	C	T	rs374706531		TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr19:53762787C>T	ENST00000341702.3	+	1	1243	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	387					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AAGAAATAGACGATTCTTTCA	0.433																																																0													105	103	104					19																	53762787		2203	4300	6503	SO:0001587	stop_gained	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1159C>T	chr19.hg19:g.53762787C>T	ENSP00000351244:p.Arg387*		A1L411|Q8TDU4	Nonsense_Mutation	SNP	ENST00000341702.3	hg19	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024586	0.35701	.	.	ENSG00000196131	ENST00000341702	.	.	.	2.92	-5.84	0.02318	.	.	.	.	.	.	.	.	.	.	.	0.20764	N	0.999858	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3458	0.04271	0.3322:0.4169:0.1115:0.1395	.	.	.	.	X	387	.	ENSP00000351244:R387X	R	+	1	2	VN1R2	58454599	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.676000	0.00396	-3.923000	0.00091	-0.582000	0.04134	CGA		0.433	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		T	53762787	C	T	53762787	4	4	71	1	0	0	0	0	0	1	0	0	17184	528	19	1	1161	1	VN1R2	19	53762787	Nonsense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08	4104710	53762787	5366196	81	4871											
SLC24A3	57419	hgsc.bcm.edu	37	20	19679325	19679325	+	Splice_Site	SNP	G	G	C	rs201062990		TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr20:19679325G>C	ENST00000328041.6	+	15	1916		c.e15+1		RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3						ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGGATCCTACGTAAGTGGTTT	0.542																																																0													79	63	68					20																	19679325		2203	4299	6502	SO:0001630	splice_region_variant	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1719+1G>C	chr20.hg19:g.19679325G>C			B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Splice_Site	SNP	ENST00000328041.6	hg19	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120039	0.94385	.	.	ENSG00000185052	ENST00000328041	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8252	0.92115	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC24A3	19627325	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	9.869000	0.99810	2.758000	0.94735	0.561000	0.74099	.		0.542	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	Intron	C	19679325	G	C	19679325	5	2	71	1	0	0	0	0	0	0	1	0	14473	1159	40	4	1778	4	SLC24A3	20	19679325	Splice_Site	SNP	G	TCGA-A4-7996-01A-11D-2201-08		19679325	43346195	82	4872											
MOCS3	8813	hgsc.bcm.edu	37	20	49576203	49576203	+	5'Flank	SNP	T	T	G			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr20:49576203T>G	ENST00000371588.5	-	0	0				DPM1_ENST00000371582.4_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.L275W|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AGTGGCAGCTTGTTGCTCTTT	0.632																																																0													46	51	50					20																	49576203		2203	4300	6503	SO:0001631	upstream_gene_variant	27304			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		chr20.hg19:g.49576203T>G	Exception_encountered		O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	hg19	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.243077	0.58995	.	.	ENSG00000124217	ENST00000244051	T	0.37058	1.22	5.27	5.27	0.74061	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);MoeZ/MoeB (1);	0.229560	0.37483	N	0.002066	T	0.75824	0.3902	H	0.98965	4.385	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.86356	0.1714	9	.	.	.	-5.0901	15.1888	0.73025	0.0:0.0:0.0:1.0	.	275	O95396	MOCS3_HUMAN	W	275	ENSP00000244051:L275W	.	L	+	2	0	MOCS3	49009610	1.000000	0.71417	0.918000	0.36340	0.234000	0.25298	5.437000	0.66544	1.992000	0.58205	0.459000	0.35465	TTG		0.632	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		G	49576203	T	G	49576203	1	3	71	0	1	0	0	0	0	0	0	0	9694	1821	63	5		5	MOCS3	20	49576203	5'Flank	SNP	T	TCGA-A4-7996-01A-11D-2201-08	29896878	49576203	13449317	83	4873											
ARVCF	421	hgsc.bcm.edu	37	22	19965495	19965495	+	Missense_Mutation	SNP	C	C	G	rs373958610		TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr22:19965495C>G	ENST00000263207.3	-	8	1975	c.1684G>C	c.(1684-1686)Gac>Cac	p.D562H	ARVCF_ENST00000406522.1_Missense_Mutation_p.D499H|ARVCF_ENST00000406259.1_Missense_Mutation_p.D562H|ARVCF_ENST00000344269.3_Missense_Mutation_p.D499H|ARVCF_ENST00000401994.1_Missense_Mutation_p.D499H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	562					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TTGTCAGTGTCCTTCCGGCCC	0.652																																																0													61	50	54					22																	19965495		2203	4300	6503	SO:0001583	missense	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1684G>C	chr22.hg19:g.19965495C>G	ENSP00000263207:p.Asp562His		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	hg19	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145373	0.77888	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.03	4.03	0.46877	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88912	0.6566	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.973;0.999	D	0.89030	0.3441	9	.	.	.	-17.2062	17.0615	0.86548	0.0:1.0:0.0:0.0	.	562;84	O00192;E7EV58	ARVC_HUMAN;.	H	562;499;499;499;562	ENSP00000263207:D562H;ENSP00000342042:D499H;ENSP00000384341:D499H;ENSP00000384732:D499H;ENSP00000385444:D562H	.	D	-	1	0	ARVCF	18345495	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	5.569000	0.67391	2.541000	0.85698	0.655000	0.94253	GAC		0.652	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		G	19965495	C	G	19965495	3	3	71	1	0	0	0	0	1	0	0	0	1003	855	30	4	1252	4	ARVCF	22	19965495	Missense_Mutation	SNP	C	TCGA-A4-7996-01A-11D-2201-08		19965495	31339071	84	4874											
PKDREJ	10343	hgsc.bcm.edu	37	22	46655720	46655720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chr22:46655720delG	ENST00000253255.5	-	1	3499	c.3500delC	c.(3499-3501)cctfs	p.P1167fs		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1167					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CACAGGATTAGGGATCACAAT	0.493																																																0													160	152	155					22																	46655720		2203	4300	6503	SO:0001589	frameshift_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3500delC	chr22.hg19:g.46655720delG	ENSP00000253255:p.Pro1167fs		B1AJY3|O95850	Frame_Shift_Del	DEL	ENST00000253255.5	hg19	CCDS14073.1																																																																																				0.493	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		-	46655720	G	-	46655720	7	5	71	1	0	1	0	1	0	0	0	0	11972	1000	35	0	3265	0	PKDREJ	22	46655720	Frame_Shift_Del	DEL	G	TCGA-A4-7996-01A-11D-2201-08	26690225	46655720	4648846	85	4875											
RLIM	51132	hgsc.bcm.edu	37	X	73815805	73815805	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-7996-01A-11D-2201-08	TCGA-A4-7996-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8cf8d4b0-1532-48a1-ac95-242f1fc0a867	5b059d3b-661d-4e07-b668-c140b421ade8	g.chrX:73815805delT	ENST00000332687.6	-	2	226	c.8delA	c.(7-9)aacfs	p.N3fs	RLIM_ENST00000349225.2_Frame_Shift_Del_p.N3fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	3					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGAATCTGAGTTTTCCATATT	0.358																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											0													53	49	50					X																	73815805		2203	4300	6503	SO:0001589	frameshift_variant	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.8delA	chrX.hg19:g.73815805delT	ENSP00000328059:p.Asn3fs		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Frame_Shift_Del	DEL	ENST00000332687.6	hg19	CCDS14427.1																																																																																				0.358	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		-	73815805	T	-	73815805	7	5	71	1	0	1	0	1	0	0	0	0	13396	1725	60	0	1878	0	RLIM	23	73815805	Frame_Shift_Del	DEL	T	TCGA-A4-7996-01A-11D-2201-08		73815805	81454755	86	4876											
RERE	473	hgsc.bcm.edu	37	1	8422892	8422892	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:8422892G>T	ENST00000337907.3	-	17	2387	c.1753C>A	c.(1753-1755)Cgc>Agc	p.R585S	RERE_ENST00000377464.1_Missense_Mutation_p.R317S|RERE_ENST00000476556.1_Missense_Mutation_p.R31S|RERE_ENST00000400908.2_Missense_Mutation_p.R585S|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	585					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CGACCACTGCGTAGTGTCGAC	0.617																																																0													95	83	87					1																	8422892		2203	4300	6503	SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1753C>A	chr1.hg19:g.8422892G>T	ENSP00000338629:p.Arg585Ser		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	hg19	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444981	0.83993	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.8	5.8	0.92144	.	.	.	.	.	T	0.21509	0.0518	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.07481	-1.0770	9	0.06891	T	0.86	-30.1132	19.0501	0.93039	0.0:0.0:1.0:0.0	.	317;585	B1AKN3;Q9P2R6	.;RERE_HUMAN	S	585;317;31;585;5	ENSP00000338629:R585S;ENSP00000366684:R317S;ENSP00000422246:R31S;ENSP00000383700:R585S	ENSP00000338629:R585S	R	-	1	0	RERE	8345479	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.407000	0.97325	2.730000	0.93505	0.563000	0.77884	CGC		0.617	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			T	8422892	G	T	8422892	3	4	72	1	0	0	0	0	1	0	0	0	13237	1145	40	4	2979	4	RERE	1	8422892	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08		8422892	240827729	1	4877											
MAST2	23139	hgsc.bcm.edu	37	1	46290209	46290209	+	Silent	SNP	T	T	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:46290209T>C	ENST00000361297.2	+	2	565	c.282T>C	c.(280-282)gaT>gaC	p.D94D	MAST2_ENST00000372009.2_Silent_p.D94D	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGAGTCAGGATGATTGTAAGT	0.398																																																0													166	149	154					1																	46290209		1856	4094	5950	SO:0001819	synonymous_variant	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.282T>C	chr1.hg19:g.46290209T>C				Silent	SNP	ENST00000361297.2	hg19	CCDS41326.1																																																																																				0.398	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		C	46290209	T	C	46290209	2	2	72	1	0	0	0	0	0	0	0	1	9327	1461	51	3		3	MAST2	1	46290209	Silent	SNP	T	TCGA-A4-7997-01A-11D-2201-08	37867317	46290209	202960412	2	4878											
WDR3	10885	hgsc.bcm.edu	37	1	118502024	118502024	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:118502024A>G	ENST00000349139.5	+	27	2833	c.2786A>G	c.(2785-2787)aAg>aGg	p.K929R	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	929						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GAAGagaagaagaggaagagg	0.378																																																0													70	77	74					1																	118502024		2203	4300	6503	SO:0001583	missense	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2786A>G	chr1.hg19:g.118502024A>G	ENSP00000308179:p.Lys929Arg			Missense_Mutation	SNP	ENST00000349139.5	hg19	CCDS898.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.502821	0.44558	.	.	ENSG00000065183	ENST00000349139	T	0.54479	0.57	5.47	4.35	0.52113	.	0.188191	0.56097	D	0.000032	T	0.15782	0.0380	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.06734	-1.0810	10	0.28530	T	0.3	-11.5094	10.512	0.44868	0.9233:0.0:0.0767:0.0	.	929	Q9UNX4	WDR3_HUMAN	R	929	ENSP00000308179:K929R	ENSP00000308179:K929R	K	+	2	0	WDR3	118303547	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.417000	0.44653	2.091000	0.63221	0.496000	0.49642	AAG		0.378	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		G	118502024	A	G	118502024	3	3	72	1	0	0	0	0	1	0	0	0	17290	72	3	3	2888	3	WDR3	1	118502024	Missense_Mutation	SNP	A	TCGA-A4-7997-01A-11D-2201-08	72211815	118502024	130748597	3	4879											
ASH1L	55870	hgsc.bcm.edu	37	1	155491175	155491175	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:155491175C>T	ENST00000368346.3	-	2	775	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	ASH1L_ENST00000548830.1_Missense_Mutation_p.E46K|ASH1L_ENST00000392403.3_Missense_Mutation_p.E46K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	46					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGTCCTCTTCCTCCTTTGTG	0.418																																																0													302	301	301					1																	155491175		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.136G>A	chr1.hg19:g.155491175C>T	ENSP00000357330:p.Glu46Lys		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.771812	0.96922	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.89875	-2.58;-2.58	5.51	5.51	0.81932	.	0.134693	0.48286	N	0.000192	T	0.73776	0.3630	N	0.08118	0	0.46874	D	0.999234	B;B	0.30281	0.18;0.275	B;B	0.28232	0.04;0.087	T	0.76487	-0.2941	10	0.72032	D	0.01	.	19.2027	0.93717	0.0:1.0:0.0:0.0	.	46;46	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	46	ENSP00000357330:E46K;ENSP00000376204:E46K	ENSP00000357330:E46K	E	-	1	0	ASH1L	153757799	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.059000	0.76684	2.868000	0.98415	0.557000	0.71058	GAA		0.418	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		T	155491175	C	T	155491175	3	4	72	1	0	0	0	0	1	0	0	0	1041	864	30	2	8866	2	ASH1L	1	155491175	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	36989151	155491175	93759446	4	4880											
SLC41A1	254428	hgsc.bcm.edu	37	1	205770146	205770146	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:205770146C>T	ENST00000367137.3	-	3	1429	c.415G>A	c.(415-417)Gtg>Atg	p.V139M	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	139					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGCGCAGGCACTAGGATGAAG	0.562																																																0													109	105	106					1																	205770146		2203	4300	6503	SO:0001583	missense	254428			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.415G>A	chr1.hg19:g.205770146C>T	ENSP00000356105:p.Val139Met		Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	hg19	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182269	0.94885	.	.	ENSG00000133065	ENST00000367137	T	0.29917	1.55	5.78	5.78	0.91487	MgtE magnesium transporter, integral membrane (1);	0.000000	0.85682	D	0.000000	T	0.68091	0.2963	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73538	-0.3951	10	0.51188	T	0.08	-13.616	19.9618	0.97254	0.0:1.0:0.0:0.0	.	139	Q8IVJ1	S41A1_HUMAN	M	139	ENSP00000356105:V139M	ENSP00000356105:V139M	V	-	1	0	SLC41A1	204036769	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.768000	0.85345	2.894000	0.99253	0.655000	0.94253	GTG		0.562	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			T	205770146	C	T	205770146	3	4	72	1	0	0	0	0	1	0	0	0	14635	565	20	2	1162	2	SLC41A1	1	205770146	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	50278971	205770146	43480475	5	4881											
PIGR	5284	hgsc.bcm.edu	37	1	207109097	207109097	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:207109097C>T	ENST00000356495.4	-	5	1295	c.1112G>A	c.(1111-1113)tGc>tAc	p.C371Y		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	371	Ig-like V-type 4.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTTGTAGGGGCAGAGCACGGC	0.622											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													33	37	36					1																	207109097		2203	4300	6503	SO:0001583	missense	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1112G>A	chr1.hg19:g.207109097C>T	ENSP00000348888:p.Cys371Tyr	2165	Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	hg19	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956538	0.53293	.	.	ENSG00000162896	ENST00000356495	T	0.40476	1.03	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.75882	0.3910	H	0.96518	3.835	0.53005	D	0.999964	D	0.89917	1.0	D	0.97110	1.0	D	0.83757	0.0212	10	0.87932	D	0	-23.806	16.2203	0.82255	0.0:1.0:0.0:0.0	.	371	P01833	PIGR_HUMAN	Y	371	ENSP00000348888:C371Y	ENSP00000348888:C371Y	C	-	2	0	PIGR	205175720	1.000000	0.71417	0.930000	0.37139	0.097000	0.18754	4.383000	0.59600	2.614000	0.88457	0.655000	0.94253	TGC		0.622	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		T	207109097	C	T	207109097	3	4	72	1	0	0	0	0	1	0	0	0	11899	710	25	2	1210	2	PIGR	1	207109097	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	1338951	207109097	42141524	6	4882											
IRF6	3664	hgsc.bcm.edu	37	1	209974723	209974723	+	Silent	SNP	G	G	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:209974723G>A	ENST00000367021.3	-	3	208	c.36C>T	c.(34-36)ccC>ccT	p.P12P	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	12					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCACCAGCCAGGGCTTTAGCC	0.607										HNSCC(57;0.16)																																						0													55	63	60					1																	209974723		2202	4300	6502	SO:0001819	synonymous_variant	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.36C>T	chr1.hg19:g.209974723G>A			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Silent	SNP	ENST00000367021.3	hg19	CCDS1492.1																																																																																				0.607	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		A	209974723	G	A	209974723	2	1	72	1	0	0	0	0	0	0	0	1	7836	987	35	2		2	IRF6	1	209974723	Silent	SNP	G	TCGA-A4-7997-01A-11D-2201-08	2865626	209974723	39275898	7	4883											
EXOC8	149371	hgsc.bcm.edu	37	1	231472205	231472205	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:231472205C>A	ENST00000360394.2	-	1	1373	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D	SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000295050.7_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.E425D	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	429					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TCAAAAATAGCTCACAGGCCT	0.527																																																0													48	49	49					1																	231472205		2203	4300	6503	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1287G>T	chr1.hg19:g.231472205C>A	ENSP00000353564:p.Glu429Asp		B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	hg19	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657151	0.29425	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77098	-1.07;-1.07	5.97	5.05	0.67936	Cullin repeat-like-containing domain (1);	0.052227	0.85682	D	0.000000	T	0.67297	0.2878	L	0.31526	0.94	0.58432	D	0.999998	P	0.45957	0.869	B	0.43754	0.43	T	0.62431	-0.6856	10	0.15066	T	0.55	-29.5152	12.807	0.57619	0.0:0.8715:0.0:0.1285	.	429	Q8IYI6	EXOC8_HUMAN	D	429;425	ENSP00000353564:E429D;ENSP00000355605:E425D	ENSP00000353564:E429D	E	-	3	2	EXOC8	229538828	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.827000	0.55745	2.837000	0.97791	0.655000	0.94253	GAG		0.527	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		A	231472205	C	A	231472205	3	1	72	1	0	0	0	0	1	0	0	0	5313	796	28	4	894	4	EXOC8	1	231472205	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	21497482	231472205	17778416	8	4884											
IRF2BP2	359948	hgsc.bcm.edu	37	1	234744251	234744251	+	Silent	SNP	G	G	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr1:234744251G>T	ENST00000366609.3	-	1	1020	c.990C>A	c.(988-990)gcC>gcA	p.A330A	IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Silent_p.A330A|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CTGCAGTCAGGGCCGGCTCCT	0.637																																																0													22	21	21					1																	234744251		2201	4300	6501	SO:0001819	synonymous_variant	359948			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.990C>A	chr1.hg19:g.234744251G>T			B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	hg19	CCDS1602.1																																																																																				0.637	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		T	234744251	G	T	234744251	2	4	72	1	0	0	0	0	0	0	0	1	7832	1219	43	4		4	IRF2BP2	1	234744251	Silent	SNP	G	TCGA-A4-7997-01A-11D-2201-08	3272046	234744251	14506370	9	4885											
GPR113	165082	hgsc.bcm.edu	37	2	26533773	26533773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr2:26533773delC	ENST00000311519.1	-	11	2822	c.2823delG	c.(2821-2823)gggfs	p.G941fs	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Frame_Shift_Del_p.G742fs|GPR113_ENST00000541401.1_Frame_Shift_Del_p.G544fs|GPR113_ENST00000421160.2_Frame_Shift_Del_p.G872fs	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	941					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGTACCAGCCCATTCACGC	0.597																																																0													58	51	53					2																	26533773		2203	4300	6503	SO:0001589	frameshift_variant	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2823delG	chr2.hg19:g.26533773delC	ENSP00000307831:p.Gly941fs		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Frame_Shift_Del	DEL	ENST00000311519.1	hg19	CCDS46239.1																																																																																				0.597	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		-	26533773	C	-	26533773	7	5	72	1	0	1	0	1	0	0	0	0	6632	726	26	0	517	0	GPR113	2	26533773	Frame_Shift_Del	DEL	C	TCGA-A4-7997-01A-11D-2201-08		26533773	216665600	10	4886											
OTOF	9381	hgsc.bcm.edu	37	2	26700635	26700635	+	Intron	SNP	G	G	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr2:26700635G>C	ENST00000272371.2	-	19	2341				OTOF_ENST00000403946.3_Intron|OTOF_ENST00000338581.6_Intron|OTOF_ENST00000339598.3_Intron|OTOF_ENST00000402415.3_Missense_Mutation_p.H43D	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGAGTGTGGGTGATGCTG	0.602																																					GBM(102;732 1451 20652 24062 31372)											0													53	41	45					2																	26700635		2194	4294	6488	SO:0001627	intron_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2215-18C>G	chr2.hg19:g.26700635G>C			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	hg19	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	7.354	0.623380	0.14193	.	.	ENSG00000115155	ENST00000402415	T	0.76709	-1.04	3.28	-1.12	0.09808	.	.	.	.	.	T	0.59307	0.2184	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.36138	-0.9760	7	.	.	.	.	6.8786	0.24160	0.2752:0.1313:0.5935:0.0	.	43	Q9HC10-3	.	D	43	ENSP00000383906:H43D	.	H	-	1	0	OTOF	26554139	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.033000	0.13754	-0.801000	0.04427	-1.268000	0.01426	CAC		0.602	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			C	26700635	G	C	26700635	1	2	72	0	1	0	0	0	0	0	0	0	11305	1348	47	4		4	OTOF	2	26700635	Intron	SNP	G	TCGA-A4-7997-01A-11D-2201-08	166862	26700635	216498738	11	4887											
C2orf73	129852	hgsc.bcm.edu	37	2	54587528	54587528	+	Silent	SNP	G	G	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr2:54587528G>T	ENST00000398634.2	+	5	735	c.693G>T	c.(691-693)ctG>ctT	p.L231L	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	231										breast(2)	2						CTCAGGAGCTGTTAGAGCCTA	0.493																																																0													35	34	35					2																	54587528		1907	4128	6035	SO:0001819	synonymous_variant	129852			BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.693G>T	chr2.hg19:g.54587528G>T			A0AV79|A0AV81|Q8N7V4	Silent	SNP	ENST00000398634.2	hg19	CCDS46285.1																																																																																				0.493	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		T	54587528	G	T	54587528	2	4	72	1	0	0	0	0	0	0	0	1	2194	1364	48	4		4	C2orf73	2	54587528	Silent	SNP	G	TCGA-A4-7997-01A-11D-2201-08	27886893	54587528	188611845	12	4888											
ZAP70	7535	hgsc.bcm.edu	37	2	98341626	98341626	+	Missense_Mutation	SNP	C	C	A	rs56404668	byFrequency	TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr2:98341626C>A	ENST00000264972.5	+	4	689	c.474C>A	c.(472-474)caC>caA	p.H158Q	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.H32Q	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	158	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGACGGCCCACGAGCGGATGC	0.637																																																0													48	43	45					2																	98341626		2203	4300	6503	SO:0001583	missense	7535			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.474C>A	chr2.hg19:g.98341626C>A	ENSP00000264972:p.His158Gln		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	hg19	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642553	0.67244	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	D;D	0.92858	-3.12;-3.12	5.37	1.01	0.19927	SH2 motif (1);	0.000000	0.50627	D	0.000112	D	0.93262	0.7853	L	0.58810	1.83	0.51012	D	0.999903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.90788	0.4684	10	0.62326	D	0.03	.	6.7946	0.23719	0.0:0.491:0.0:0.509	.	158;32;158	B4E0E2;P43403-3;P43403	.;.;ZAP70_HUMAN	Q	158;32	ENSP00000264972:H158Q;ENSP00000411141:H32Q	ENSP00000264972:H158Q	H	+	3	2	ZAP70	97708058	0.004000	0.15560	1.000000	0.80357	0.763000	0.43281	-1.323000	0.02692	0.354000	0.24105	-0.216000	0.12614	CAC		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			A	98341626	C	A	98341626	3	1	72	1	0	0	0	0	1	0	0	0	17519	535	19	4	480	4	ZAP70	2	98341626	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	43754098	98341626	144857747	13	4889											
SUMF1	285362	hgsc.bcm.edu	37	3	4490972	4490972	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:4490972A>C	ENST00000272902.5	-	3	532	c.497T>G	c.(496-498)gTg>gGg	p.V166G	SUMF1_ENST00000405420.2_Missense_Mutation_p.V166G|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000383843.5_Intron|SUMF1_ENST00000534863.1_Missense_Mutation_p.V166G	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	166					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ATTGGTCTTCACTTGCTCACT	0.393																																																0													172	171	171					3																	4490972		2203	4300	6503	SO:0001583	missense	285362			BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.497T>G	chr3.hg19:g.4490972A>C	ENSP00000272902:p.Val166Gly		B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	hg19	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002331	0.74932	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000405420	D;D;D	0.97553	-4.43;-4.43;-4.43	5.53	5.53	0.82687	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.97002	0.9021	L	0.41824	1.3	0.80722	D	1	D;P	0.67145	0.996;0.541	D;P	0.65684	0.937;0.566	D	0.96392	0.9290	10	0.32370	T	0.25	-14.8274	14.671	0.68945	1.0:0.0:0.0:0.0	.	166;166	E9PGL0;Q8NBK3	.;SUMF1_HUMAN	G	166	ENSP00000440421:V166G;ENSP00000272902:V166G;ENSP00000384977:V166G	ENSP00000272902:V166G	V	-	2	0	SUMF1	4465972	1.000000	0.71417	0.989000	0.46669	0.926000	0.56050	7.392000	0.79840	2.100000	0.63781	0.533000	0.62120	GTG		0.393	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		C	4490972	A	C	4490972	3	2	72	1	0	0	0	0	1	0	0	0	15390	159	6	5	655	5	SUMF1	3	4490972	Missense_Mutation	SNP	A	TCGA-A4-7997-01A-11D-2201-08		4490972	193531458	14	4890											
ANO10	55129	hgsc.bcm.edu	37	3	43618738	43618738	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:43618738T>A	ENST00000292246.3	-	6	778	c.608A>T	c.(607-609)tAc>tTc	p.Y203F	ANO10_ENST00000396091.3_Missense_Mutation_p.Y137F|ANO10_ENST00000414522.2_Missense_Mutation_p.Y203F|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000451430.2_Missense_Mutation_p.Y92F	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	203					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TTCCCCAAAGTAGCCACGAAT	0.343																																																0													20	22	21					3																	43618738		2189	4296	6485	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.608A>T	chr3.hg19:g.43618738T>A	ENSP00000292246:p.Tyr203Phe		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	hg19	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511689	0.85389	.	.	ENSG00000160746	ENST00000292246;ENST00000396091;ENST00000414522;ENST00000451430;ENST00000428472	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	M	0.91354	3.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.90259	0.4299	10	0.87932	D	0	.	16.3127	0.82898	0.0:0.0:0.0:1.0	.	92;203;137;203	Q9NW15-4;C9JHS1;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	F	203;137;203;92;92	ENSP00000292246:Y203F;ENSP00000379398:Y137F;ENSP00000396990:Y203F;ENSP00000394119:Y92F;ENSP00000416266:Y92F	ENSP00000292246:Y203F	Y	-	2	0	ANO10	43593742	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	8.040000	0.89188	2.246000	0.74042	0.533000	0.62120	TAC		0.343	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		A	43618738	T	A	43618738	3	1	72	1	0	0	0	0	1	0	0	0	696	1638	57	5	1406	5	ANO10	3	43618738	Missense_Mutation	SNP	T	TCGA-A4-7997-01A-11D-2201-08	39127766	43618738	154403692	15	4891											
ARHGEF3	50650	hgsc.bcm.edu	37	3	56787577	56787577	+	Silent	SNP	G	G	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:56787577G>C	ENST00000296315.3	-	4	561	c.393C>G	c.(391-393)tcC>tcG	p.S131S	ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000413728.2_Silent_p.S137S|ARHGEF3_ENST00000338458.4_Silent_p.S163S|ARHGEF3_ENST00000496106.1_Silent_p.S137S|ARHGEF3_ENST00000497267.1_Silent_p.S102S|ARHGEF3_ENST00000495373.1_Silent_p.S131S	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	131	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTTCTCCTTGGGAAAGCTCAA	0.363																																																0													116	120	118					3																	56787577		2203	4300	6503	SO:0001819	synonymous_variant	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.393C>G	chr3.hg19:g.56787577G>C			A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Silent	SNP	ENST00000296315.3	hg19	CCDS2878.1																																																																																				0.363	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		C	56787577	G	C	56787577	2	2	72	1	0	0	0	0	0	0	0	1	904	1219	43	4		4	ARHGEF3	3	56787577	Silent	SNP	G	TCGA-A4-7997-01A-11D-2201-08	13168839	56787577	141234853	16	4892											
TMF1	7110	hgsc.bcm.edu	37	3	69096768	69096770	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:69096768_69096770delGAA	ENST00000398559.2	-	2	1302_1304	c.1086_1088delTTC	c.(1084-1089)tcttca>tca	p.362_363SS>S	MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000543976.1_In_Frame_Del_p.362_363SS>S|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	362					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CTTTGGAGTTGAAGAATTAACTA	0.355																																																0																																										SO:0001651	inframe_deletion	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1086_1088delTTC	chr3.hg19:g.69096771_69096773delGAA	ENSP00000381567:p.Ser363del		B7ZLJ2|Q17R87|Q59GK0	In_Frame_Del	DEL	ENST00000398559.2	hg19	CCDS43105.1																																																																																				0.355	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		-	69096770	GAA	-	69096768	7	5	72	1	0	1	0	1	0	0	0	0	16233	1294	45	0	2257	0	TMF1	3	69096768	In_Frame_Del	DEL	GAA	TCGA-A4-7997-01A-11D-2201-08	12309191	69096768	128925662	17	4893											
EAF2	55840	hgsc.bcm.edu	37	3	121591418	121591418	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:121591418G>A	ENST00000273668.2	+	5	590	c.519G>A	c.(517-519)atG>atA	p.M173I	EAF2_ENST00000451944.2_Missense_Mutation_p.M173I	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	173					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TGGACCAGATGAGTAGTTGTG	0.313																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)											0													120	123	122					3																	121591418		2203	4300	6503	SO:0001583	missense	55840			AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.519G>A	chr3.hg19:g.121591418G>A	ENSP00000273668:p.Met173Ile		Q9NZ82	Missense_Mutation	SNP	ENST00000273668.2	hg19	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127060	0.56721	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	4.74	4.74	0.60224	.	0.135191	0.64402	D	0.000004	T	0.62258	0.2413	M	0.77820	2.39	0.47862	D	0.999539	B	0.30406	0.278	B	0.27887	0.084	T	0.62243	-0.6895	9	0.29301	T	0.29	-9.0448	15.2478	0.73521	0.0:0.0:1.0:0.0	.	173	Q96CJ1	EAF2_HUMAN	I	173	.	ENSP00000273668:M173I	M	+	3	0	EAF2	123074108	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.397000	0.79903	2.456000	0.83038	0.305000	0.20034	ATG		0.313	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		A	121591418	G	A	121591418	3	1	72	1	0	0	0	0	1	0	0	0	4878	1290	45	2	537	2	EAF2	3	121591418	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	52494650	121591418	76431012	18	4894											
COL6A6	131873	hgsc.bcm.edu	37	3	130287032	130287032	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:130287032G>A	ENST00000358511.6	+	5	2016	c.1985G>A	c.(1984-1986)gGt>gAt	p.G662D	COL6A6_ENST00000453409.2_Missense_Mutation_p.G662D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	662	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGCAAATTGGTGTAGTCCAG	0.408																																																0													176	171	173					3																	130287032		1915	4119	6034	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1985G>A	chr3.hg19:g.130287032G>A	ENSP00000351310:p.Gly662Asp		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654369	0.47467	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82711	-1.64;-1.64	5.53	5.53	0.82687	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000018	D	0.93350	0.7880	H	0.94886	3.595	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.94709	0.7890	10	0.87932	D	0	.	14.6487	0.68780	0.0:0.1454:0.8546:0.0	.	662	A6NMZ7	CO6A6_HUMAN	D	662	ENSP00000351310:G662D;ENSP00000399236:G662D	ENSP00000351310:G662D	G	+	2	0	COL6A6	131769722	1.000000	0.71417	0.353000	0.25747	0.014000	0.08584	5.227000	0.65305	2.616000	0.88540	0.655000	0.94253	GGT		0.408	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130287032	G	A	130287032	3	1	72	1	0	0	0	0	1	0	0	0	3705	1261	44	2	2003	2	COL6A6	3	130287032	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	8695614	130287032	67735398	19	4895											
CP	1356	hgsc.bcm.edu	37	3	148930432	148930432	+	Missense_Mutation	SNP	T	T	C	rs141532762		TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr3:148930432T>C	ENST00000264613.6	-	2	462	c.200A>G	c.(199-201)tAt>tGt	p.Y67C		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	67	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGCCTTCTTATATAGTCTCCC	0.388																																																0								T	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	74	73	73		200	5.4	0.5	3	dbSNP_134	73	0,8600		0,0,4300	no	missense	CP	NM_000096.3	194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	67/1066	148930432	1,13005	2203	4300	6503	SO:0001583	missense	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.200A>G	chr3.hg19:g.148930432T>C	ENSP00000264613:p.Tyr67Cys		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	hg19	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.636271	0.67130	2.27E-4	0.0	ENSG00000047457	ENST00000264613;ENST00000455472	D;D	0.99277	-5.67;-5.67	5.42	5.42	0.78866	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99530	0.9832	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	D	0.98194	1.0464	10	0.87932	D	0	-24.6173	15.6278	0.76874	0.0:0.0:0.0:1.0	.	67;67	A8K5A4;P00450	.;CERU_HUMAN	C	67;107	ENSP00000264613:Y67C;ENSP00000426888:Y107C	ENSP00000264613:Y67C	Y	-	2	0	CP	150413122	1.000000	0.71417	0.500000	0.27589	0.701000	0.40568	7.525000	0.81892	2.280000	0.76307	0.460000	0.39030	TAT		0.388	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		C	148930432	T	C	148930432	3	2	72	1	0	0	0	0	1	0	0	0	3789	1406	49	3	3069	3	CP	3	148930432	Missense_Mutation	SNP	T	TCGA-A4-7997-01A-11D-2201-08	18643400	148930432	49091998	20	4896											
HTT	3064	hgsc.bcm.edu	37	4	3156098	3156098	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr4:3156098C>A	ENST00000355072.5	+	27	3722	c.3577C>A	c.(3577-3579)Caa>Aaa	p.Q1193K		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1193					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCAGGAGAACAAGCATCTGT	0.498																																																0													55	53	54					4																	3156098		2049	4207	6256	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3577C>A	chr4.hg19:g.3156098C>A	ENSP00000347184:p.Gln1193Lys		Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	hg19	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061554	0.36373	.	.	ENSG00000197386	ENST00000355072	T	0.05081	3.5	5.2	5.2	0.72013	.	0.378699	0.27906	N	0.017370	T	0.07683	0.0193	L	0.43152	1.355	0.27971	N	0.936396	B	0.20887	0.049	B	0.19148	0.024	T	0.21143	-1.0254	10	0.17832	T	0.49	.	16.9201	0.86162	0.0:1.0:0.0:0.0	.	1193	P42858	HD_HUMAN	K	1193	ENSP00000347184:Q1193K	ENSP00000347184:Q1193K	Q	+	1	0	HTT	3125896	0.989000	0.36119	0.644000	0.29465	0.961000	0.63080	3.195000	0.51013	2.430000	0.82344	0.557000	0.71058	CAA		0.498	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		A	3156098	C	A	3156098	3	1	72	1	0	0	0	0	1	0	0	0	7459	479	17	4	3683	4	HTT	4	3156098	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08		3156098	187998178	21	4897											
TECRL	253017	hgsc.bcm.edu	37	4	65180367	65180367	+	Splice_Site	SNP	G	G	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr4:65180367G>A	ENST00000381210.3	-	5	660	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Splice_Site_p.H184Y	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	184					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATCACTTACTGTACCACTGGG	0.428																																																0													83	76	78					4																	65180367		2203	4300	6503	SO:0001630	splice_region_variant	253017			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.551+1C>T	chr4.hg19:g.65180367G>A				Missense_Mutation	SNP	ENST00000381210.3	hg19	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191677	0.78902	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.42900	0.96;0.96	5.7	5.7	0.88788	.	0.124523	0.52532	D	0.000077	T	0.64832	0.2634	M	0.85777	2.775	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.78314	0.991;0.866	T	0.63537	-0.6615	10	0.07644	T	0.81	-12.79	16.5536	0.84479	0.0:0.0:1.0:0.0	.	184;184	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	Y	184	ENSP00000426043:H184Y;ENSP00000370607:H184Y	ENSP00000370607:H184Y	H	-	1	0	TECRL	64862962	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	4.899000	0.63245	2.689000	0.91719	0.591000	0.81541	CAC		0.428	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874	Missense_Mutation	A	65180367	G	A	65180367	5	1	72	1	0	0	0	0	0	0	1	0	15751	1391	48	2	573	2	TECRL	4	65180367	Splice_Site	SNP	G	TCGA-A4-7997-01A-11D-2201-08	62024269	65180367	125973909	22	4898											
SEPT11	55752	hgsc.bcm.edu	37	4	77941678	77941678	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr4:77941678T>G	ENST00000264893.6	+	7	1009	c.808T>G	c.(808-810)Ttt>Gtt	p.F270V	SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Missense_Mutation_p.F280V|SEPT11_ENST00000502584.1_Missense_Mutation_p.F270V|SEPT11_ENST00000541121.1_Missense_Mutation_p.F280V|SEPT11_ENST00000505788.1_Missense_Mutation_p.F270V	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	270	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TCATTGCGATTTTGTGAAACT	0.468																																																0													96	93	94					4																	77941678		2203	4300	6503	SO:0001583	missense	55752			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.808T>G	chr4.hg19:g.77941678T>G	ENSP00000264893:p.Phe270Val		B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	hg19	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.015347	0.93404	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	H	0.98388	4.22	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.99;0.989;0.994	D	0.93076	0.6487	10	0.87932	D	0	.	15.1435	0.72630	0.0:0.0:0.0:1.0	.	280;262;270	Q9NVA2-2;D6RDU5;Q9NVA2	.;.;SEP11_HUMAN	V	270;270;262;270;280;280	ENSP00000264893:F270V;ENSP00000426344:F270V;ENSP00000420839:F262V;ENSP00000424925:F270V;ENSP00000422896:F280V;ENSP00000443701:F280V	ENSP00000264893:F270V	F	+	1	0	SEPT11	78160702	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	1.975000	0.57531	0.482000	0.46254	TTT		0.468	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		G	77941678	T	G	77941678	3	3	72	1	0	0	0	0	1	0	0	0	14067	1841	64	5	834	5	SEPT11	4	77941678	Missense_Mutation	SNP	T	TCGA-A4-7997-01A-11D-2201-08	12761311	77941678	113212598	23	4899											
SKP2	6502	hgsc.bcm.edu	37	5	36163851	36163851	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr5:36163851C>A	ENST00000274255.6	+	3	581	c.385C>A	c.(385-387)Cgc>Agc	p.R129S	SKP2_ENST00000274254.5_Missense_Mutation_p.R129S|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	129	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGGTGGTATCGCCTAGCGTA	0.468																																																0													139	119	126					5																	36163851		2203	4300	6503	SO:0001583	missense	6502			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.385C>A	chr5.hg19:g.36163851C>A	ENSP00000274255:p.Arg129Ser		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	hg19	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365916	0.41902	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151	T;T;T	0.42513	0.97;0.97;0.97	4.92	0.0927	0.14474	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.302114	0.42548	N	0.000698	T	0.29288	0.0729	L	0.48362	1.52	0.80722	D	1	B;B	0.23249	0.082;0.077	B;B	0.25291	0.021;0.059	T	0.04090	-1.0978	10	0.29301	T	0.29	-0.2876	5.0024	0.14271	0.1582:0.6121:0.0:0.2297	.	129;129	Q13309-2;Q13309	.;SKP2_HUMAN	S	129;129;95;129	ENSP00000274254:R129S;ENSP00000274255:R129S;ENSP00000423188:R129S	ENSP00000274254:R129S	R	+	1	0	SKP2	36199608	0.912000	0.30974	0.985000	0.45067	0.998000	0.95712	0.041000	0.13927	-0.102000	0.12197	0.650000	0.86243	CGC		0.468	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		A	36163851	C	A	36163851	3	1	72	1	0	0	0	0	1	0	0	0	14368	884	31	4	395	4	SKP2	5	36163851	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08		36163851	144751409	24	4900											
NIPBL	25836	hgsc.bcm.edu	37	5	36984988	36984988	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr5:36984988A>T	ENST00000282516.8	+	10	2205	c.1706A>T	c.(1705-1707)gAa>gTa	p.E569V	NIPBL_ENST00000448238.2_Missense_Mutation_p.E569V|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	569					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGCCTGAAGAAATCAAACAA	0.393																																																0													92	96	94					5																	36984988		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1706A>T	chr5.hg19:g.36984988A>T	ENSP00000282516:p.Glu569Val		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974280	0.34848	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94417	-3.41;-3.42	5.98	5.98	0.97165	.	0.120361	0.64402	D	0.000018	D	0.90933	0.7150	N	0.19112	0.55	0.42318	D	0.992241	P;P	0.48503	0.856;0.911	B;P	0.44561	0.266;0.453	D	0.91908	0.5537	10	0.49607	T	0.09	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	569;569	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	569	ENSP00000282516:E569V;ENSP00000406266:E569V	ENSP00000282516:E569V	E	+	2	0	NIPBL	37020745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.883000	0.69721	2.288000	0.76882	0.528000	0.53228	GAA		0.393	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		T	36984988	A	T	36984988	3	4	72	1	0	0	0	0	1	0	0	0	10430	246	9	5	1740	5	NIPBL	5	36984988	Missense_Mutation	SNP	A	TCGA-A4-7997-01A-11D-2201-08	821137	36984988	143930272	25	4901											
ARHGAP26	23092	hgsc.bcm.edu	37	5	142416823	142416823	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr5:142416823A>G	ENST00000274498.4	+	13	1585	c.1207A>G	c.(1207-1209)Aga>Gga	p.R403G	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.R403G	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	403	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGAAACCAGAGGTAAAGT	0.468																																																0													127	106	113					5																	142416823		2203	4300	6503	SO:0001583	missense	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1207A>G	chr5.hg19:g.142416823A>G	ENSP00000274498:p.Arg403Gly		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	hg19	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.144516	0.77888	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	T;T	0.21031	2.03;2.03	5.84	4.64	0.57946	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	M	0.85945	2.785	0.58432	D	0.999996	P;D	0.53619	0.924;0.961	P;P	0.54590	0.508;0.756	T	0.42241	-0.9463	10	0.49607	T	0.09	.	12.0971	0.53761	0.856:0.144:0.0:0.0	.	403;403	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	G	403	ENSP00000274498:R403G;ENSP00000367243:R403G	ENSP00000274498:R403G	R	+	1	2	ARHGAP26	142397016	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.389000	0.52516	0.988000	0.38734	0.455000	0.32223	AGA		0.468	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		G	142416823	A	G	142416823	3	3	72	1	0	0	0	0	1	0	0	0	875	180	7	3	1257	3	ARHGAP26	5	142416823	Missense_Mutation	SNP	A	TCGA-A4-7997-01A-11D-2201-08	105431835	142416823	38498437	26	4902											
JAKMIP2	9832	hgsc.bcm.edu	37	5	147000262	147000262	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr5:147000262G>T	ENST00000265272.5	-	18	2576	c.2109C>A	c.(2107-2109)gaC>gaA	p.D703E	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D661E|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D682E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	703						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTCTGTAGTCTAGTTCTT	0.388																																																0													308	258	275					5																	147000262		2203	4300	6503	SO:0001583	missense	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2109C>A	chr5.hg19:g.147000262G>T	ENSP00000265272:p.Asp703Glu		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	hg19	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287394	0.59976	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.25912	1.8;1.77;1.78	5.66	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	M	0.64404	1.975	0.49389	D	0.999788	D;D;D;D	0.61697	0.99;0.99;0.99;0.99	D;D;D;D	0.70935	0.971;0.971;0.971;0.971	T	0.22347	-1.0219	10	0.15952	T	0.53	.	10.5305	0.44973	0.1413:0.0:0.8587:0.0	.	661;703;682;703	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	E	682;703;661;682	ENSP00000421398:D682E;ENSP00000265272:D703E;ENSP00000328989:D661E	ENSP00000265272:D703E	D	-	3	2	JAKMIP2	146980455	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.966000	0.40481	0.817000	0.34445	0.591000	0.81541	GAC		0.388	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		T	147000262	G	T	147000262	3	4	72	1	0	0	0	0	1	0	0	0	7943	1020	36	4	339	4	JAKMIP2	5	147000262	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	4583439	147000262	33914998	27	4903											
C5orf41	153222	hgsc.bcm.edu	37	5	172518026	172518026	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr5:172518026C>G	ENST00000296953.2	+	4	1163	c.844C>G	c.(844-846)Ctt>Gtt	p.L282V	CREBRF_ENST00000540014.1_Missense_Mutation_p.L282V|CREBRF_ENST00000520420.1_Missense_Mutation_p.L282V|CREBRF_ENST00000522692.1_Missense_Mutation_p.L282V	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	282					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GATGGAGCCTCTTCAAGGTCA	0.522																																																0													60	61	60					5																	172518026		2203	4300	6503	SO:0001583	missense	153222			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.844C>G	chr5.hg19:g.172518026C>G	ENSP00000296953:p.Leu282Val		B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	hg19	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	C	3.060	-0.193550	0.06259	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T	0.43294	0.95;0.95	5.29	2.49	0.30216	.	0.733387	0.13308	N	0.397700	T	0.23766	0.0575	N	0.24115	0.695	0.09310	N	1	B;B	0.25609	0.039;0.13	B;B	0.24269	0.052;0.043	T	0.27191	-1.0081	10	0.07482	T	0.82	.	8.0149	0.30374	0.1291:0.7322:0.0:0.1387	.	282;282	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	V	282	ENSP00000296953:L282V;ENSP00000440075:L282V	ENSP00000296953:L282V	L	+	1	0	C5orf41	172450632	0.996000	0.38824	0.050000	0.19076	0.931000	0.56810	3.394000	0.52551	0.215000	0.20761	0.563000	0.77884	CTT		0.522	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		G	172518026	C	G	172518026	3	3	72	1	0	0	0	0	1	0	0	0	2302	913	32	4	854	4	C5orf41	5	172518026	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	25517764	172518026	8397234	28	4904											
SPDEF	25803	hgsc.bcm.edu	37	6	34512076	34512076	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr6:34512076G>T	ENST00000374037.3	-	2	571	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	SPDEF_ENST00000544425.1_Missense_Mutation_p.Q53K	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	53					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GACAGGCCCTGCTCGGGCGTG	0.687																																																0													35	40	38					6																	34512076		2203	4300	6503	SO:0001583	missense	25803			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.157C>A	chr6.hg19:g.34512076G>T	ENSP00000363149:p.Gln53Lys		B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	hg19	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534021	0.45073	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.14022	2.54;2.73	4.97	4.97	0.65823	.	0.498805	0.17278	N	0.180107	T	0.04452	0.0122	L	0.27053	0.805	0.28482	N	0.914903	B;B	0.25904	0.137;0.085	B;B	0.25140	0.058;0.026	T	0.26121	-1.0112	10	0.35671	T	0.21	.	13.5867	0.61935	0.0:0.1561:0.8439:0.0	.	53;53	F5H778;O95238	.;SPDEF_HUMAN	K	53	ENSP00000363149:Q53K;ENSP00000442715:Q53K	ENSP00000363149:Q53K	Q	-	1	0	SPDEF	34620054	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.798000	0.62510	2.286000	0.76751	0.591000	0.81541	CAG		0.687	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		T	34512076	G	T	34512076	3	4	72	1	0	0	0	0	1	0	0	0	15031	1328	46	4	870	4	SPDEF	6	34512076	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08		34512076	136602991	29	4905											
SNX9	51429	hgsc.bcm.edu	37	6	158288583	158288583	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr6:158288583G>A	ENST00000392185.3	+	2	188	c.17G>A	c.(16-18)cGg>cAg	p.R6Q		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	6	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TGATAGGCTCGGGTTATGTAT	0.393																																																0													171	140	150					6																	158288583		2203	4300	6503	SO:0001583	missense	51429			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.17G>A	chr6.hg19:g.158288583G>A	ENSP00000376024:p.Arg6Gln		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	hg19	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908097	0.52333	.	.	ENSG00000130340	ENST00000539592;ENST00000392185	T	0.24350	1.86	5.22	4.33	0.51752	Src homology-3 domain (3);	0.434714	0.25546	N	0.029934	T	0.11281	0.0275	L	0.42686	1.345	0.80722	D	1	B	0.29936	0.262	B	0.26770	0.073	T	0.03514	-1.1029	10	0.45353	T	0.12	-7.1352	12.8925	0.58080	0.0:0.164:0.836:0.0	.	6	Q9Y5X1	SNX9_HUMAN	Q	6	ENSP00000376024:R6Q	ENSP00000376024:R6Q	R	+	2	0	SNX9	158208571	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.078000	0.57606	1.204000	0.43247	0.655000	0.94253	CGG		0.393	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			A	158288583	G	A	158288583	3	1	72	1	0	0	0	0	1	0	0	0	14915	1116	39	1	23	1	SNX9	6	158288583	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	123776507	158288583	12826484	30	4906											
MET	4233	hgsc.bcm.edu	37	7	116417463	116417463	+	Missense_Mutation	SNP	C	C	T	rs121913244		TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr7:116417463C>T	ENST00000318493.6	+	16	3521	c.3334C>T	c.(3334-3336)Cat>Tat	p.H1112Y	MET_ENST00000397752.3_Missense_Mutation_p.H1094Y|MET_ENST00000539704.1_5'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H1112Y(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGTGTATATCATGGGACTTT	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM993668	MET	M	rs121913244						188	175	179					7																	116417463		1832	4086	5918	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3334C>T	chr7.hg19:g.116417463C>T	ENSP00000317272:p.His1112Tyr		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615896	0.87359	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.33654	1.4;1.4	5.29	5.29	0.74685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	N	0.11364	0.135	0.80722	D	1	P;D	0.89917	0.937;1.0	P;D	0.91635	0.854;0.999	T	0.52711	-0.8539	10	0.51188	T	0.08	-16.8984	19.2953	0.94119	0.0:1.0:0.0:0.0	.	1112;1094	P08581-2;P08581	.;MET_HUMAN	Y	1094;1112	ENSP00000380860:H1094Y;ENSP00000317272:H1112Y	ENSP00000317272:H1112Y	H	+	1	0	MET	116204699	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.628000	0.89032	0.655000	0.94253	CAT		0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			T	116417463	C	T	116417463	3	4	72	1	0	0	0	0	1	0	0	0	9487	826	29	2	3392	2	MET	7	116417463	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08		116417463	42721200	31	4907											
CTTNBP2	83992	hgsc.bcm.edu	37	7	117365303	117365303	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr7:117365303G>C	ENST00000160373.3	-	18	4155	c.4064C>G	c.(4063-4065)tCt>tGt	p.S1355C		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1355					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCACAGCTTAGACATCCACCT	0.468																																																0													138	134	135					7																	117365303		2203	4300	6503	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4064C>G	chr7.hg19:g.117365303G>C	ENSP00000160373:p.Ser1355Cys		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	hg19	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864762	0.51482	.	.	ENSG00000077063	ENST00000160373	D	0.91068	-2.78	5.72	5.72	0.89469	.	0.267144	0.43416	D	0.000578	D	0.87557	0.6207	L	0.41824	1.3	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.81274	-0.1007	10	0.23891	T	0.37	9.6033	20.244	0.98389	0.0:0.0:1.0:0.0	.	1355	Q8WZ74	CTTB2_HUMAN	C	1355	ENSP00000160373:S1355C	ENSP00000160373:S1355C	S	-	2	0	CTTNBP2	117152539	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.149000	0.71795	2.865000	0.98341	0.655000	0.94253	TCT		0.468	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		C	117365303	G	C	117365303	3	2	72	1	0	0	0	0	1	0	0	0	4047	942	33	4	951	4	CTTNBP2	7	117365303	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	947840	117365303	41773360	32	4908											
MLL3	58508	hgsc.bcm.edu	37	7	151917756	151917756	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr7:151917756C>A	ENST00000262189.6	-	23	3782	c.3564G>T	c.(3562-3564)caG>caT	p.Q1188H	KMT2C_ENST00000355193.2_Missense_Mutation_p.Q1188H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1188					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTGTGAGGCTCTGTAACTGAG	0.408																																																0													72	69	70					7																	151917756		2203	4298	6501	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3564G>T	chr7.hg19:g.151917756C>A	ENSP00000262189:p.Gln1188His		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	hg19	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948672	0.53186	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85171	-1.95;-1.95	4.44	3.56	0.40772	.	0.000000	0.41605	U	0.000856	D	0.89763	0.6809	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75484	0.986;0.971	D	0.89849	0.4008	10	0.66056	D	0.02	.	12.545	0.56195	0.0:0.9173:0.0:0.0827	.	1188;249	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	H	1188	ENSP00000262189:Q1188H;ENSP00000347325:Q1188H	ENSP00000262189:Q1188H	Q	-	3	2	MLL3	151548689	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.614000	0.61183	0.976000	0.38417	0.484000	0.47621	CAG		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151917756	C	A	151917756	3	1	72	1	0	0	0	0	1	0	0	0	9624	912	32	4	11319	4	MLL3	7	151917756	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	34552453	151917756	7220907	33	4909											
CDH17	1015	hgsc.bcm.edu	37	8	95201459	95201459	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr8:95201459A>C	ENST00000027335.3	-	3	230	c.106T>G	c.(106-108)Ttt>Gtt	p.F36V	CDH17_ENST00000450165.2_Missense_Mutation_p.F36V|CDH17_ENST00000441892.2_Missense_Mutation_p.F36V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TAAATAGAAAATGTCATGGGT	0.403																																																0													118	120	119					8																	95201459		2203	4300	6503	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.106T>G	chr8.hg19:g.95201459A>C	ENSP00000027335:p.Phe36Val		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	hg19	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	A	9.966	1.224134	0.22457	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.60040	0.26;0.26;0.26;0.22	5.43	5.43	0.79202	Cadherin (1);Cadherin-like (1);	0.000000	0.49305	D	0.000150	T	0.59959	0.2232	L	0.39514	1.22	0.47374	D	0.999407	D;D	0.62365	0.979;0.991	P;P	0.56042	0.622;0.79	T	0.57365	-0.7824	10	0.30854	T	0.27	-19.528	11.8845	0.52594	1.0:0.0:0.0:0.0	.	36;36	E7EN24;Q12864	.;CAD17_HUMAN	V	36	ENSP00000027335:F36V;ENSP00000392811:F36V;ENSP00000401468:F36V;ENSP00000428189:F36V	ENSP00000027335:F36V	F	-	1	0	CDH17	95270635	0.957000	0.32711	0.996000	0.52242	0.606000	0.37113	2.732000	0.47352	2.057000	0.61298	0.482000	0.46254	TTT		0.403	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		C	95201459	A	C	95201459	3	2	72	1	0	0	0	0	1	0	0	0	3104	101	4	5	2456	5	CDH17	8	95201459	Missense_Mutation	SNP	A	TCGA-A4-7997-01A-11D-2201-08		95201459	51162563	34	4910											
BNC2	54796	hgsc.bcm.edu	37	9	16419221	16419221	+	Silent	SNP	A	A	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr9:16419221A>G	ENST00000380672.4	-	7	3123	c.3066T>C	c.(3064-3066)tcT>tcC	p.S1022S	BNC2_ENST00000545497.1_Silent_p.S927S|BNC2_ENST00000380667.2_Silent_p.S955S	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGAACATAAGAGATCCTGAAA	0.547																																																0													81	72	75					9																	16419221		2203	4300	6503	SO:0001819	synonymous_variant	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.3066T>C	chr9.hg19:g.16419221A>G				Silent	SNP	ENST00000380672.4	hg19	CCDS6482.2																																																																																				0.547	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		G	16419221	A	G	16419221	2	3	72	1	0	0	0	0	0	0	0	1	1475	291	11	3		3	BNC2	9	16419221	Silent	SNP	A	TCGA-A4-7997-01A-11D-2201-08		16419221	124794210	35	4911											
GRIN3A	116443	hgsc.bcm.edu	37	9	104449145	104449145	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr9:104449145C>G	ENST00000361820.3	-	2	1637	c.1037G>C	c.(1036-1038)gGg>gCg	p.G346A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	346					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GGGCATGACCCCAAACTGGGT	0.507																																																0													66	64	65					9																	104449145		2203	4300	6503	SO:0001583	missense	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1037G>C	chr9.hg19:g.104449145C>G	ENSP00000355155:p.Gly346Ala		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	hg19	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696202	0.48202	.	.	ENSG00000198785	ENST00000361820	D	0.90732	-2.72	5.83	4.92	0.64577	.	0.942080	0.09021	N	0.860194	D	0.90017	0.6883	L	0.59436	1.845	0.58432	D	0.999992	B	0.28419	0.211	B	0.26864	0.074	D	0.83443	0.0044	10	0.66056	D	0.02	.	15.7632	0.78103	0.1471:0.8529:0.0:0.0	.	346	Q8TCU5	NMD3A_HUMAN	A	346	ENSP00000355155:G346A	ENSP00000355155:G346A	G	-	2	0	GRIN3A	103488966	1.000000	0.71417	0.885000	0.34714	0.653000	0.38743	4.782000	0.62396	1.403000	0.46800	0.563000	0.77884	GGG		0.507	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			G	104449145	C	G	104449145	3	3	72	1	0	0	0	0	1	0	0	0	6785	623	22	4	2342	4	GRIN3A	9	104449145	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	88029924	104449145	36764286	36	4912											
MASTL	84930	hgsc.bcm.edu	37	10	27459483	27459483	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr10:27459483T>C	ENST00000375940.4	+	8	1652	c.1595T>C	c.(1594-1596)cTt>cCt	p.L532P	MASTL_ENST00000375946.4_Missense_Mutation_p.L532P|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.L532P			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	532	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAAAAAACCTTATGTGTGAA	0.313																																																0													89	92	91					10																	27459483		2203	4300	6503	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1595T>C	chr10.hg19:g.27459483T>C	ENSP00000365107:p.Leu532Pro		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	hg19	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.985988	0.53934	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.33654	1.4;1.4;1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.65957	-0.6042	10	0.87932	D	0	-17.4573	15.9272	0.79628	0.0:0.0:0.0:1.0	.	532;532;532	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	P	532	ENSP00000365113:L532P;ENSP00000343446:L532P;ENSP00000365107:L532P	ENSP00000343446:L532P	L	+	2	0	MASTL	27499489	1.000000	0.71417	0.861000	0.33841	0.432000	0.31715	6.170000	0.71920	2.153000	0.67306	0.533000	0.62120	CTT		0.313	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		C	27459483	T	C	27459483	3	2	72	1	0	0	0	0	1	0	0	0	9330	1609	56	3	1625	3	MASTL	10	27459483	Missense_Mutation	SNP	T	TCGA-A4-7997-01A-11D-2201-08		27459483	108075264	37	4913											
UNC5B	219699	hgsc.bcm.edu	37	10	73055666	73055666	+	Silent	SNP	C	C	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr10:73055666C>T	ENST00000335350.6	+	14	2690	c.2274C>T	c.(2272-2274)ctC>ctT	p.L758L	UNC5B_ENST00000373192.4_Silent_p.L747L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	758	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCTCTCCCTCCATGACCTCC	0.612																																																0													133	105	115					10																	73055666		2203	4300	6503	SO:0001819	synonymous_variant	219699			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2274C>T	chr10.hg19:g.73055666C>T			Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	hg19	CCDS7309.1																																																																																				0.612	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		T	73055666	C	T	73055666	2	4	72	1	0	0	0	0	0	0	0	1	16997	842	30	2		2	UNC5B	10	73055666	Silent	SNP	C	TCGA-A4-7997-01A-11D-2201-08	45596183	73055666	62479081	38	4914											
PIK3C2A	5286	hgsc.bcm.edu	37	11	17124313	17124313	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr11:17124313A>C	ENST00000265970.7	-	23	3746	c.3747T>G	c.(3745-3747)tgT>tgG	p.C1249W	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.C869W	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1249	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TGTGTCGATCACAGATGCCTA	0.383																																																0													102	88	93					11																	17124313		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3747T>G	chr11.hg19:g.17124313A>C	ENSP00000265970:p.Cys1249Trp		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	hg19	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420006	0.62622	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.80909	-1.43;-1.43	5.45	4.32	0.51571	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89599	0.3833	10	0.72032	D	0.01	-12.9025	11.3328	0.49485	0.9285:0.0:0.0715:0.0	.	1249	O00443	P3C2A_HUMAN	W	1249;869	ENSP00000265970:C1249W;ENSP00000438687:C869W	ENSP00000265970:C1249W	C	-	3	2	PIK3C2A	17080889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.320000	0.51991	1.021000	0.39600	0.533000	0.62120	TGT		0.383	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		C	17124313	A	C	17124313	3	2	72	1	0	0	0	0	1	0	0	0	11911	157	6	5	1353	5	PIK3C2A	11	17124313	Missense_Mutation	SNP	A	TCGA-A4-7997-01A-11D-2201-08		17124313	117882203	39	4915											
ENDOD1	23052	hgsc.bcm.edu	37	11	94823276	94823276	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr11:94823276C>T	ENST00000278505.4	+	1	303	c.185C>T	c.(184-186)gCt>gTt	p.A62V		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	62						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				GCGGAGGGTGCTGAGCGCTTC	0.716																																																0													12	17	15					11																	94823276		1882	4102	5984	SO:0001583	missense	23052			BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.185C>T	chr11.hg19:g.94823276C>T	ENSP00000278505:p.Ala62Val		A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	hg19	CCDS41699.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399463	0.42512	.	.	ENSG00000149218	ENST00000278505	T	0.69306	-0.39	4.43	1.23	0.21249	DNA/RNA non-specific endonuclease (1);Extracellular Endonuclease, subunit A (2);	1.135320	0.06834	N	0.794557	T	0.55800	0.1943	L	0.36672	1.1	0.09310	N	0.999999	B	0.33413	0.411	B	0.40165	0.321	T	0.50206	-0.8855	10	0.28530	T	0.3	-13.357	2.0739	0.03619	0.3599:0.396:0.1335:0.1106	.	62	O94919	ENDD1_HUMAN	V	62	ENSP00000278505:A62V	ENSP00000278505:A62V	A	+	2	0	ENDOD1	94462924	0.076000	0.21285	0.977000	0.42913	0.495000	0.33615	0.653000	0.24902	0.848000	0.35191	0.585000	0.79938	GCT		0.716	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		T	94823276	C	T	94823276	3	4	72	1	0	0	0	0	1	0	0	0	5116	797	28	2	187	2	ENDOD1	11	94823276	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	77698963	94823276	40183240	40	4916											
ATM	472	hgsc.bcm.edu	37	11	108155202	108155202	+	Splice_Site	SNP	T	T	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr11:108155202T>C	ENST00000452508.2	+	27	4182		c.e27+2		ATM_ENST00000278616.4_Splice_Site			Q13315	ATM_HUMAN	ATM serine/threonine kinase						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGAAAACAGGTATGGCTTCAA	0.348			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													93	90	91					11																	108155202		2201	4298	6499	SO:0001630	splice_region_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3993+2T>C	chr11.hg19:g.108155202T>C			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	SNP	ENST00000452508.2	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311730	0.60414	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508;ENST00000531525	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4694	0.75429	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATM	107660412	1.000000	0.71417	0.998000	0.56505	0.827000	0.46813	7.450000	0.80656	2.070000	0.61991	0.455000	0.32223	.		0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Intron	C	108155202	T	C	108155202	5	2	72	1	0	0	0	0	0	0	1	0	1109	1652	57	3	4093	3	ATM	11	108155202	Splice_Site	SNP	T	TCGA-A4-7997-01A-11D-2201-08	13331926	108155202	26851314	41	4917											
VWF	7450	hgsc.bcm.edu	37	12	6138619	6138619	+	Silent	SNP	G	G	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr12:6138619G>A	ENST00000261405.5	-	22	3110	c.2856C>T	c.(2854-2856)caC>caT	p.H952H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	952	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCACCTCAAAGTGAGTCTCAT	0.572																																																0													108	95	99					12																	6138619		2203	4300	6503	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2856C>T	chr12.hg19:g.6138619G>A			Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	hg19	CCDS8539.1																																																																																				0.572	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		A	6138619	G	A	6138619	2	1	72	1	0	0	0	0	0	0	0	1	17251	1020	36	2		2	VWF	12	6138619	Silent	SNP	G	TCGA-A4-7997-01A-11D-2201-08		6138619	127713276	42	4918											
LRRC23	10233	hgsc.bcm.edu	37	12	7014840	7014840	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr12:7014840G>C	ENST00000007969.8	+	2	263	c.43G>C	c.(43-45)Gat>Cat	p.D15H	LRRC23_ENST00000433346.1_Missense_Mutation_p.D15H|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000443597.2_Missense_Mutation_p.D15H|LRRC23_ENST00000436789.1_Missense_Mutation_p.D15H|LRRC23_ENST00000429740.1_Missense_Mutation_p.D15H|LRRC23_ENST00000323702.5_Missense_Mutation_p.D15H	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	15										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GCCAGACCAGGATGATTCTga	0.498																																																0													70	74	73					12																	7014840		2203	4300	6503	SO:0001583	missense	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.43G>C	chr12.hg19:g.7014840G>C	ENSP00000007969:p.Asp15His		A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	hg19	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906459	0.33628	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000415834;ENST00000436789;ENST00000429740	T;T;T;T;T;T;T	0.71461	1.55;-0.26;-0.57;-0.26;0.55;1.6;1.19	4.74	4.74	0.60224	.	.	.	.	.	T	0.79088	0.4387	L	0.60455	1.87	0.47698	D	0.999497	D;D;D;D	0.69078	0.997;0.997;0.984;0.991	D;P;P;P	0.63877	0.919;0.884;0.769;0.769	T	0.80533	-0.1340	9	0.62326	D	0.03	-12.2314	13.0943	0.59182	0.0:0.0:1.0:0.0	.	15;15;15;15	E9PDZ4;Q53EV4-2;Q53EV4;C9JKE8	.;.;LRC23_HUMAN;.	H	15	ENSP00000402554:D15H;ENSP00000007969:D15H;ENSP00000317464:D15H;ENSP00000390932:D15H;ENSP00000408066:D15H;ENSP00000396049:D15H;ENSP00000397192:D15H	ENSP00000007969:D15H	D	+	1	0	LRRC23	6885101	0.995000	0.38212	0.960000	0.40013	0.183000	0.23260	2.632000	0.46511	2.452000	0.82932	0.561000	0.74099	GAT		0.498	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		C	7014840	G	C	7014840	3	2	72	1	0	0	0	0	1	0	0	0	8980	1174	41	4	45	4	LRRC23	12	7014840	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	876221	7014840	126837055	43	4919											
MLL2	8085	hgsc.bcm.edu	37	12	49416134	49416134	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr12:49416134A>C	ENST00000301067.7	-	52	16340	c.16341T>G	c.(16339-16341)aaT>aaG	p.N5447K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5447	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGATGCCTCGATTCTAGAAAG	0.512																																																0													45	44	44					12																	49416134		2076	4217	6293	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16341T>G	chr12.hg19:g.49416134A>C	ENSP00000301067:p.Asn5447Lys		O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109690	0.37242	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	T;T	0.80824	-1.42;-1.42	5.11	0.159	0.14968	SET domain (3);	0.000000	0.38326	N	0.001723	D	0.85013	0.5600	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82888	-0.0234	10	0.87932	D	0	.	10.057	0.42250	0.4781:0.0:0.5219:0.0	.	5447	O14686	MLL2_HUMAN	K	5447;128	ENSP00000301067:N5447K;ENSP00000435714:N128K	ENSP00000301067:N5447K	N	-	3	2	MLL2	47702401	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	1.117000	0.31234	-0.129000	0.11620	-0.256000	0.11100	AAT		0.512	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49416134	A	C	49416134	3	2	72	1	0	0	0	0	1	0	0	0	9623	330	12	5	284	5	MLL2	12	49416134	Missense_Mutation	SNP	A	TCGA-A4-7997-01A-11D-2201-08	42401294	49416134	84435761	44	4920											
ULK1	8408	hgsc.bcm.edu	37	12	132405713	132405713	+	Silent	SNP	C	C	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr12:132405713C>G	ENST00000321867.4	+	27	3381	c.3030C>G	c.(3028-3030)gcC>gcG	p.A1010A	ULK1_ENST00000540647.1_Silent_p.A255A	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1010					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACCACAAGGCCCTGCTGCTCC	0.677																																																0													54	52	53					12																	132405713		2203	4299	6502	SO:0001819	synonymous_variant	8408			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.3030C>G	chr12.hg19:g.132405713C>G			Q9UQ28	Silent	SNP	ENST00000321867.4	hg19	CCDS9274.1																																																																																				0.677	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			G	132405713	C	G	132405713	2	3	72	1	0	0	0	0	0	0	0	1	16980	610	22	4		4	ULK1	12	132405713	Silent	SNP	C	TCGA-A4-7997-01A-11D-2201-08	82989579	132405713	1446182	45	4921											
SSTR1	6751	hgsc.bcm.edu	37	14	38678657	38678657	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr14:38678657C>G	ENST00000267377.2	+	3	680	c.63C>G	c.(61-63)tgC>tgG	p.C21W		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	21					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.C21C(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CGGGCAGCTGCGGCGAAGGCG	0.736																																																1	Substitution - coding silent(1)	central_nervous_system(1)											12	13	13					14																	38678657		2183	4234	6417	SO:0001583	missense	6751				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.63C>G	chr14.hg19:g.38678657C>G	ENSP00000267377:p.Cys21Trp			Missense_Mutation	SNP	ENST00000267377.2	hg19	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608924	0.28623	.	.	ENSG00000139874	ENST00000267377	T	0.70045	-0.45	5.17	1.05	0.20165	.	0.310059	0.23375	N	0.048870	T	0.36496	0.0969	N	0.08118	0	0.39683	D	0.970939	P	0.35700	0.516	B	0.24541	0.054	T	0.12528	-1.0544	10	0.37606	T	0.19	.	8.1652	0.31222	0.0:0.6547:0.0:0.3453	.	21	P30872	SSR1_HUMAN	W	21	ENSP00000267377:C21W	ENSP00000267377:C21W	C	+	3	2	SSTR1	37748408	0.002000	0.14202	0.877000	0.34402	0.931000	0.56810	0.205000	0.17356	0.016000	0.14998	0.563000	0.77884	TGC		0.736	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			G	38678657	C	G	38678657	3	3	72	1	0	0	0	0	1	0	0	0	15202	776	27	4	65	4	SSTR1	14	38678657	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08		38678657	68670883	46	4922											
ARID4A	5926	hgsc.bcm.edu	37	14	58827680	58827680	+	Missense_Mutation	SNP	G	G	C	rs145426502		TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr14:58827680G>C	ENST00000355431.3	+	19	2373	c.2000G>C	c.(1999-2001)gGa>gCa	p.G667A	ARID4A_ENST00000348476.3_Missense_Mutation_p.G667A|ARID4A_ENST00000395168.3_Missense_Mutation_p.G667A|ARID4A_ENST00000431317.2_Missense_Mutation_p.G667A	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	667					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCAAAACGGGGACGACCTCCT	0.443																																																0													172	159	163					14																	58827680		2203	4300	6503	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2000G>C	chr14.hg19:g.58827680G>C	ENSP00000347602:p.Gly667Ala		Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	hg19	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723941	0.89298	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.71	5.71	0.89125	Chromo domain-like (1);	0.105040	0.64402	D	0.000004	T	0.56124	0.1964	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.49790	-0.8902	10	0.35671	T	0.21	-26.8249	19.8505	0.96738	0.0:0.0:1.0:0.0	.	667;667;667	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	A	667;667;667;667;345	ENSP00000347602:G667A;ENSP00000344556:G667A;ENSP00000378597:G667A;ENSP00000397368:G667A;ENSP00000416053:G345A	ENSP00000344556:G667A	G	+	2	0	ARID4A	57897433	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.225000	0.78051	2.688000	0.91661	0.655000	0.94253	GGA		0.443	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		C	58827680	G	C	58827680	3	2	72	1	0	0	0	0	1	0	0	0	919	1174	41	4	2070	4	ARID4A	14	58827680	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	20149023	58827680	48521860	47	4923											
CDAN1	146059	hgsc.bcm.edu	37	15	43023981	43023981	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr15:43023981C>T	ENST00000356231.3	-	11	1599	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	526					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TCTGGGGCCTCGCCCAAGACG	0.587																																																0													38	42	41					15																	43023981		2203	4299	6502	SO:0001583	missense	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1576G>A	chr15.hg19:g.43023981C>T	ENSP00000348564:p.Glu526Lys		Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	hg19	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.074758	0.76415	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.90324	-2.65	5.9	4.99	0.66335	.	0.297879	0.39020	N	0.001487	D	0.92708	0.7682	M	0.65975	2.015	0.44432	D	0.997352	D	0.71674	0.998	P	0.54312	0.748	D	0.93041	0.6457	10	0.59425	D	0.04	-19.189	15.0277	0.71682	0.0:0.9321:0.0:0.0679	.	526	Q8IWY9	CDAN1_HUMAN	K	526;524	ENSP00000348564:E526K	ENSP00000267892:E524K	E	-	1	0	CDAN1	40811273	1.000000	0.71417	0.246000	0.24233	0.217000	0.24651	7.039000	0.76544	1.511000	0.48818	0.651000	0.88453	GAG		0.587	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		T	43023981	C	T	43023981	3	4	72	1	0	0	0	0	1	0	0	0	3056	893	31	1	2179	1	CDAN1	15	43023981	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08		43023981	59507411	48	4924											
GNB5	10681	hgsc.bcm.edu	37	15	52446239	52446239	+	Silent	SNP	C	C	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr15:52446239C>T	ENST00000261837.7	-	4	338	c.273G>A	c.(271-273)ggG>ggA	p.G91G	GNB5_ENST00000560116.1_Silent_p.G49G|GNB5_ENST00000396335.4_Silent_p.G49G|GNB5_ENST00000358784.7_Silent_p.G49G	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	91					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		TGACAAACTGCCCCAGGGCCT	0.572																																																0													115	95	102					15																	52446239		2195	4293	6488	SO:0001819	synonymous_variant	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.273G>A	chr15.hg19:g.52446239C>T			B2RBR5|Q9HAU9|Q9UFT3	Silent	SNP	ENST00000261837.7	hg19	CCDS10149.1																																																																																				0.572	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			T	52446239	C	T	52446239	2	4	72	1	0	0	0	0	0	0	0	1	6523	726	26	2		2	GNB5	15	52446239	Silent	SNP	C	TCGA-A4-7997-01A-11D-2201-08	9422258	52446239	50085153	49	4925											
HERC1	8925	hgsc.bcm.edu	37	15	64021464	64021464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr15:64021464C>T	ENST00000443617.2	-	16	3212	c.3125G>A	c.(3124-3126)tGg>tAg	p.W1042*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1042					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACTGCCATTCCAAGGACTTTC	0.363																																																0													43	40	41					15																	64021464		1833	4095	5928	SO:0001587	stop_gained	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3125G>A	chr15.hg19:g.64021464C>T	ENSP00000390158:p.Trp1042*		Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	41	8.909842	0.99000	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	19.6131	0.95618	0.0:1.0:0.0:0.0	.	.	.	.	X	1042	.	ENSP00000390158:W1042X	W	-	2	0	HERC1	61808517	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.840000	0.69402	2.652000	0.90054	0.561000	0.74099	TGG		0.363	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	64021464	C	T	64021464	4	4	72	1	0	0	0	0	0	1	0	0	7059	595	21	2	11712	2	HERC1	15	64021464	Nonsense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	11575225	64021464	38509928	50	4926											
AXIN1	8312	hgsc.bcm.edu	37	16	396884	396884	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:396884T>G	ENST00000262320.3	-	2	513	c.142A>C	c.(142-144)Aaa>Caa	p.K48Q	AXIN1_ENST00000354866.3_Missense_Mutation_p.K48Q|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	48					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCAACACCTTTCCCGGAGCAG	0.627											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													44	44	44					16																	396884		2202	4300	6502	SO:0001583	missense	8312			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.142A>C	chr16.hg19:g.396884T>G	ENSP00000262320:p.Lys48Gln	588	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	hg19	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449477	0.63178	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.61980	0.06;0.07	5.34	5.34	0.76211	.	0.138741	0.64402	D	0.000005	T	0.77143	0.4087	M	0.74258	2.255	0.58432	D	0.999991	D;D	0.69078	0.997;0.996	D;P	0.63703	0.917;0.894	T	0.80051	-0.1544	10	0.62326	D	0.03	-17.2364	15.3197	0.74112	0.0:0.0:0.0:1.0	.	48;48	O15169-2;O15169	.;AXIN1_HUMAN	Q	48	ENSP00000262320:K48Q;ENSP00000346935:K48Q	ENSP00000262320:K48Q	K	-	1	0	AXIN1	336885	1.000000	0.71417	0.998000	0.56505	0.388000	0.30384	5.889000	0.69766	2.039000	0.60335	0.533000	0.62120	AAA		0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			G	396884	T	G	396884	3	3	72	1	0	0	0	0	1	0	0	0	1236	1792	62	5	2486	5	AXIN1	16	396884	Missense_Mutation	SNP	T	TCGA-A4-7997-01A-11D-2201-08		396884	89957869	51	4927											
HAGH	3029	hgsc.bcm.edu	37	16	1869997	1869997	+	Silent	SNP	A	A	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:1869997A>G	ENST00000397356.3	-	4	739	c.333T>C	c.(331-333)aaT>aaC	p.N111N	HAGH_ENST00000455446.2_Silent_p.N111N|HAGH_ENST00000397353.2_Silent_p.N63N|HAGH_ENST00000566709.1_Silent_p.N63N	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	111					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CCAGTTTCTCATTCCCGCCAG	0.617																																					Pancreas(55;1048 1176 25227 40124 41333)											0													95	78	83					16																	1869997		2199	4300	6499	SO:0001819	synonymous_variant	3029			X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.333T>C	chr16.hg19:g.1869997A>G			A8K290|B4DP33|B4DRA7|E7EN93	Silent	SNP	ENST00000397356.3	hg19	CCDS10447.2																																																																																				0.617	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		G	1869997	A	G	1869997	2	3	72	1	0	0	0	0	0	0	0	1	6947	214	8	3		3	HAGH	16	1869997	Silent	SNP	A	TCGA-A4-7997-01A-11D-2201-08	1473113	1869997	88484756	52	4928											
CREBBP	1387	hgsc.bcm.edu	37	16	3807907	3807907	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:3807907G>A	ENST00000262367.5	-	18	4321	c.3512C>T	c.(3511-3513)aCa>aTa	p.T1171I	CREBBP_ENST00000382070.3_Missense_Mutation_p.T1133I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1171	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A. {ECO:0000269|PubMed:24616510}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GACTCGGGATGTCTTGCGATT	0.502			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			GRCh37	CI084721	CREBBP	I							148	125	133					16																	3807907		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3512C>T	chr16.hg19:g.3807907G>A	ENSP00000262367:p.Thr1171Ile		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279568	0.59758	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.19669	2.13;2.13	5.59	5.59	0.84812	Bromodomain (6);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.56199	1.76	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.83275	0.996;0.996	T	0.26608	-1.0098	10	0.62326	D	0.03	-14.9891	19.5896	0.95503	0.0:0.0:1.0:0.0	.	1201;1171	Q4LE28;Q92793	.;CBP_HUMAN	I	1171;1201;1133	ENSP00000262367:T1171I;ENSP00000371502:T1133I	ENSP00000262367:T1171I	T	-	2	0	CREBBP	3747908	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	9.731000	0.98807	2.632000	0.89209	0.585000	0.79938	ACA		0.502	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		A	3807907	G	A	3807907	3	1	72	1	0	0	0	0	1	0	0	0	3863	1377	48	2	3872	2	CREBBP	16	3807907	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	1937910	3807907	86546846	53	4929											
GLYR1	84656	hgsc.bcm.edu	37	16	4895118	4895118	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:4895118C>G	ENST00000321919.9	-	3	188	c.112G>C	c.(112-114)Gga>Cga	p.G38R	UBN1_ENST00000262376.6_5'Flank|GLYR1_ENST00000436648.5_Missense_Mutation_p.G38R|UBN1_ENST00000545171.1_5'Flank|GLYR1_ENST00000381983.3_Missense_Mutation_p.G38R|GLYR1_ENST00000591451.1_Missense_Mutation_p.G38R	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	38	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CATTTCTTTCCGCGAGGTTTC	0.463																																																0													107	118	115					16																	4895118		2197	4300	6497	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.112G>C	chr16.hg19:g.4895118C>G	ENSP00000322716:p.Gly38Arg		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	hg19	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062788	0.76187	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.70045	-0.45;-0.45;-0.45	5.25	5.25	0.73442	PWWP (2);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	N	0.25647	0.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72424	-0.4298	10	0.37606	T	0.19	-9.014	17.6028	0.88030	0.0:1.0:0.0:0.0	.	38;38;38	Q49A26-5;Q49A26-3;Q49A26	.;.;GLYR1_HUMAN	R	38	ENSP00000322716:G38R;ENSP00000371413:G38R;ENSP00000390276:G38R	ENSP00000322716:G38R	G	-	1	0	GLYR1	4835119	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.931000	0.70113	2.451000	0.82905	0.491000	0.48974	GGA		0.463	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		G	4895118	C	G	4895118	3	3	72	1	0	0	0	0	1	0	0	0	6485	661	23	4	1605	4	GLYR1	16	4895118	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	1087211	4895118	85459635	54	4930											
PALB2	79728	hgsc.bcm.edu	37	16	23646368	23646368	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:23646368G>A	ENST00000261584.4	-	4	1651	c.1499C>T	c.(1498-1500)tCt>tTt	p.S500F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	500	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGCCTTCCTAGACAAGTCATT	0.473			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0													146	143	144					16																	23646368		2197	4300	6497	SO:0001583	missense	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1499C>T	chr16.hg19:g.23646368G>A	ENSP00000261584:p.Ser500Phe		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	hg19	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	g	17.98	3.521575	0.64747	.	.	ENSG00000083093	ENST00000261584	T	0.17691	2.26	5.27	1.12	0.20585	.	0.782893	0.11510	N	0.556845	T	0.15955	0.0384	L	0.57536	1.79	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.27606	-1.0069	10	0.46703	T	0.11	-0.048	4.9673	0.14096	0.2567:0.1532:0.5902:0.0	.	500	Q86YC2	PALB2_HUMAN	F	500	ENSP00000261584:S500F	ENSP00000261584:S500F	S	-	2	0	PALB2	23553869	0.000000	0.05858	0.000000	0.03702	0.614000	0.37383	0.098000	0.15189	0.057000	0.16193	-0.121000	0.15023	TCT		0.473	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		A	23646368	G	A	23646368	3	1	72	1	0	0	0	0	1	0	0	0	11408	942	33	2	2101	2	PALB2	16	23646368	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	18751250	23646368	66708385	55	4931											
CENPT	80152	hgsc.bcm.edu	37	16	67863889	67863889	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr16:67863889T>A	ENST00000562787.1	-	12	1513	c.965A>T	c.(964-966)gAa>gTa	p.E322V	CENPT_ENST00000440851.2_Missense_Mutation_p.E322V|CENPT_ENST00000219172.3_Missense_Mutation_p.E322V|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000564817.1_Missense_Mutation_p.E322V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	322	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GGGCTCTACTTCATCTTCTCC	0.532																																																0													189	187	188					16																	67863889		2040	4195	6235	SO:0001583	missense	80152			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.965A>T	chr16.hg19:g.67863889T>A	ENSP00000457810:p.Glu322Val		Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	hg19	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502660	0.26949	.	.	ENSG00000102901	ENST00000440851;ENST00000436104;ENST00000219172	T;T	0.43294	0.95;0.95	4.08	-1.05	0.10036	.	0.294496	0.23852	N	0.043925	T	0.23249	0.0562	L	0.29908	0.895	0.26493	N	0.974919	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.001	T	0.07635	-1.0762	10	0.42905	T	0.14	.	3.7971	0.08744	0.1696:0.5023:0.0:0.3281	.	80;322;322	F5H5A6;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	V	322;80;322	ENSP00000400140:E322V;ENSP00000219172:E322V	ENSP00000219172:E322V	E	-	2	0	CENPT	66421390	0.000000	0.05858	0.023000	0.16930	0.019000	0.09904	-1.893000	0.01609	0.003000	0.14656	-0.313000	0.08912	GAA		0.532	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		A	67863889	T	A	67863889	3	1	72	1	0	0	0	0	1	0	0	0	3244	1783	62	5	740	5	CENPT	16	67863889	Missense_Mutation	SNP	T	TCGA-A4-7997-01A-11D-2201-08	44217521	67863889	22490864	56	4932											
KDM6B	23135	hgsc.bcm.edu	37	17	7755333	7755333	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr17:7755333G>C	ENST00000448097.2	+	18	4561	c.4230G>C	c.(4228-4230)tgG>tgC	p.W1410C	KDM6B_ENST00000254846.5_Missense_Mutation_p.W1410C			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1410	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACTGCGAGTGGTTCGCGGTGC	0.627											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													93	80	84					17																	7755333		2203	4300	6503	SO:0001583	missense	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.4230G>C	chr17.hg19:g.7755333G>C	ENSP00000412513:p.Trp1410Cys	644	C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	hg19		.	.	.	.	.	.	.	.	.	.	G	14.04	2.416033	0.42817	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	D;D	0.86230	-2.09;-2.09	4.99	3.95	0.45737	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.062767	0.64402	D	0.000002	D	0.95194	0.8442	H	0.95780	3.72	0.80722	D	1	D;B	0.89917	1.0;0.058	D;B	0.97110	1.0;0.064	D	0.95975	0.8973	10	0.87932	D	0	-8.7797	15.1416	0.72615	0.0:0.1428:0.8572:0.0	.	1410;1410	O15054;O15054-1	KDM6B_HUMAN;.	C	1410	ENSP00000254846:W1410C;ENSP00000412513:W1410C	ENSP00000254846:W1410C	W	+	3	0	KDM6B	7696058	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.404000	0.79996	2.769000	0.95229	0.561000	0.74099	TGG		0.627	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		C	7755333	G	C	7755333	3	2	72	1	0	0	0	0	1	0	0	0	8140	1270	44	4	4288	4	KDM6B	17	7755333	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08		7755333	73439877	57	4933											
KRT33A	3883	hgsc.bcm.edu	37	17	39505660	39505660	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr17:39505660C>G	ENST00000007735.3	-	2	413	c.369G>C	c.(367-369)gaG>gaC	p.E123D		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	123	Coil 1B.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCCTGGCATTCTCAGACTTGC	0.478																																																0													110	100	104					17																	39505660		2203	4300	6503	SO:0001583	missense	3883			Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.369G>C	chr17.hg19:g.39505660C>G	ENSP00000007735:p.Glu123Asp		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	hg19	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920429	0.33908	.	.	ENSG00000006059	ENST00000007735	D	0.89617	-2.54	4.8	4.8	0.61643	Filament (1);	0.000000	0.64402	D	0.000019	D	0.84750	0.5541	L	0.42744	1.35	0.31832	N	0.624605	B	0.22211	0.066	B	0.34385	0.181	T	0.80443	-0.1380	10	0.27082	T	0.32	.	8.7524	0.34626	0.1523:0.572:0.2757:0.0	.	123	O76009	KT33A_HUMAN	D	123	ENSP00000007735:E123D	ENSP00000007735:E123D	E	-	3	2	KRT33A	36759186	0.937000	0.31787	1.000000	0.80357	0.994000	0.84299	0.006000	0.13152	2.643000	0.89663	0.655000	0.94253	GAG		0.478	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		G	39505660	C	G	39505660	3	3	72	1	0	0	0	0	1	0	0	0	8471	912	32	4	869	4	KRT33A	17	39505660	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	31750327	39505660	41689550	58	4934											
SCRN2	90507	hgsc.bcm.edu	37	17	45916322	45916322	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr17:45916322C>A	ENST00000290216.9	-	5	732	c.607G>T	c.(607-609)Gcc>Tcc	p.A203S	SCRN2_ENST00000584123.1_Missense_Mutation_p.A211S|SCRN2_ENST00000407215.3_Missense_Mutation_p.A203S	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	203						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GGGTGTTGGGCCGAGATGTCC	0.592																																																0													85	89	88					17																	45916322		2203	4300	6503	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.607G>T	chr17.hg19:g.45916322C>A	ENSP00000290216:p.Ala203Ser		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	hg19	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	C	1.216	-0.628224	0.03610	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.20881	2.04;2.04	5.52	5.52	0.82312	.	0.215480	0.47455	D	0.000225	T	0.15392	0.0371	L	0.37630	1.12	0.09310	N	1	B;B;B	0.25850	0.051;0.136;0.051	B;B;B	0.27608	0.081;0.081;0.081	T	0.25606	-1.0127	10	0.07482	T	0.82	-11.1584	11.6628	0.51356	0.0:0.9174:0.0:0.0825	.	203;203;203	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	S	203	ENSP00000290216:A203S;ENSP00000383935:A203S	ENSP00000290216:A203S	A	-	1	0	SCRN2	43271321	0.000000	0.05858	0.026000	0.17262	0.066000	0.16364	0.485000	0.22324	2.588000	0.87417	0.655000	0.94253	GCC		0.592	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		A	45916322	C	A	45916322	3	1	72	1	0	0	0	0	1	0	0	0	13945	739	26	4	704	4	SCRN2	17	45916322	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	6410662	45916322	35278888	59	4935											
NARF	26502	hgsc.bcm.edu	37	17	80443450	80443450	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr17:80443450G>A	ENST00000309794.11	+	10	1247	c.1049G>A	c.(1048-1050)cGa>cAa	p.R350Q	NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000457415.3_Missense_Mutation_p.R396Q|NARF_ENST00000345415.7_Missense_Mutation_p.R302Q|NARF_ENST00000390006.4_Missense_Mutation_p.R291Q	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	350						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TATGGCTTTCGAAACATCCAG	0.493																																																0													151	133	139					17																	80443450		2203	4300	6503	SO:0001583	missense	26502			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1049G>A	chr17.hg19:g.80443450G>A	ENSP00000309899:p.Arg350Gln		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	hg19	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	16.94	3.261532	0.59431	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.47177	0.85;0.85;0.85	5.32	5.32	0.75619	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	M	0.77406	2.37	0.80722	D	1	D;D;D;P	0.55605	0.972;0.972;0.961;0.895	P;P;P;P	0.54140	0.743;0.743;0.727;0.473	T	0.63332	-0.6661	10	0.33940	T	0.23	-19.4724	17.9724	0.89117	0.0:0.0:1.0:0.0	.	396;302;397;350	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	Q	291;397;350;302	ENSP00000374656:R291Q;ENSP00000309899:R350Q;ENSP00000283996:R302Q	ENSP00000309899:R350Q	R	+	2	0	NARF	78036739	1.000000	0.71417	0.941000	0.38009	0.854000	0.48673	9.273000	0.95719	2.480000	0.83734	0.561000	0.74099	CGA		0.493	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		A	80443450	G	A	80443450	3	1	72	1	0	0	0	0	1	0	0	0	10169	1058	37	1	1229	1	NARF	17	80443450	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	34527128	80443450	751760	60	4936											
EPB41L3	23136	hgsc.bcm.edu	37	18	5394764	5394764	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr18:5394764T>G	ENST00000341928.2	-	22	3522	c.3182A>C	c.(3181-3183)aAa>aCa	p.K1061T	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K839T|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.K358T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K839T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.K366T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K1061T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1061	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTGCTGCTCTTTGGCCTCTTT	0.498																																																0													208	171	184					18																	5394764		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3182A>C	chr18.hg19:g.5394764T>G	ENSP00000343158:p.Lys1061Thr		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	hg19	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858556	0.91433	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;D;T;T;T;T	0.85339	-1.48;-1.97;-1.48;-1.48;-1.48;-1.48	5.82	5.82	0.92795	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89996	0.6877	L	0.49126	1.545	0.80722	D	1	D;D;D;D;P;D;P	0.89917	1.0;1.0;1.0;1.0;0.66;1.0;0.887	D;D;D;D;B;D;P	0.91635	0.996;0.99;0.994;0.998;0.376;0.999;0.809	D	0.88953	0.3388	10	0.36615	T	0.2	.	16.1814	0.81903	0.0:0.0:0.0:1.0	.	358;366;453;730;839;1061;296	E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;E41L3_HUMAN;.	T	1061;730;730;358;366;1061;839	ENSP00000343158:K1061T;ENSP00000442091:K730T;ENSP00000392195:K358T;ENSP00000442233:K366T;ENSP00000341138:K1061T;ENSP00000382981:K839T	ENSP00000343158:K1061T	K	-	2	0	EPB41L3	5384764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.234000	0.73211	0.533000	0.62120	AAA		0.498	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		G	5394764	T	G	5394764	3	3	72	1	0	0	0	0	1	0	0	0	5156	1841	64	5	85	5	EPB41L3	18	5394764	Missense_Mutation	SNP	T	TCGA-A4-7997-01A-11D-2201-08		5394764	72682484	61	4937											
STK11	6794	hgsc.bcm.edu	37	19	1223168	1223168	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr19:1223168C>T	ENST00000326873.7	+	8	2278	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	369					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCACGGTGCCCGGTGAGTC	0.642		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	20	Whole gene deletion(20)	cervix(14)|lung(2)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											36	45	42					19																	1223168		2094	4215	6309	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.1105C>T	chr19.hg19:g.1223168C>T	ENSP00000324856:p.Pro369Ser		B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	hg19	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	.	15.23	2.770635	0.49680	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	T	0.68181	-0.31	3.66	3.66	0.41972	.	0.115197	0.64402	N	0.000011	T	0.62889	0.2465	M	0.71581	2.175	0.80722	D	1	P	0.40398	0.716	B	0.39339	0.297	T	0.62728	-0.6793	10	0.10636	T	0.68	-19.522	14.5402	0.67987	0.0:1.0:0.0:0.0	.	369	Q15831	STK11_HUMAN	S	369	ENSP00000324856:P369S	ENSP00000324856:P369S	P	+	1	0	STK11	1174168	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	7.025000	0.76449	1.884000	0.54569	0.313000	0.20887	CCC		0.642	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		T	1223168	C	T	1223168	3	4	72	1	0	0	0	0	1	0	0	0	15292	739	26	2	1135	2	STK11	19	1223168	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08		1223168	57905815	62	4938											
ZNF433	163059	hgsc.bcm.edu	37	19	12126384	12126384	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr19:12126384G>T	ENST00000344980.6	-	4	1468	c.1298C>A	c.(1297-1299)tCt>tAt	p.S433Y	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.S398Y|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GAGTGAGGCAGATCTGAAGGC	0.418																																																0													93	97	96					19																	12126384		2202	4300	6502	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1298C>A	chr19.hg19:g.12126384G>T	ENSP00000339767:p.Ser433Tyr		Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	hg19	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	G	1.694	-0.503274	0.04261	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.06608	3.28;3.28	1.18	-2.37	0.06643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	L	0.45744	1.44	0.09310	N	1	D	0.56746	0.977	P	0.53224	0.721	T	0.16217	-1.0410	9	0.02654	T	1	.	0.9392	0.01351	0.1557:0.2904:0.2991:0.2549	.	433	Q8N7K0	ZN433_HUMAN	Y	398;433	ENSP00000393416:S398Y;ENSP00000339767:S433Y	ENSP00000339767:S433Y	S	-	2	0	ZNF433	11987384	0.000000	0.05858	0.000000	0.03702	0.881000	0.50899	-3.866000	0.00347	-1.541000	0.01727	0.298000	0.19748	TCT		0.418	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		T	12126384	G	T	12126384	3	4	72	1	0	0	0	0	1	0	0	0	17912	942	33	4	727	4	ZNF433	19	12126384	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	10903216	12126384	47002599	63	4939											
KIAA1683	80726	hgsc.bcm.edu	37	19	18368726	18368726	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr19:18368726C>G	ENST00000600328.3	-	4	3000	c.2807G>C	c.(2806-2808)gGc>gCc	p.G936A	PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.G1123A|KIAA1683_ENST00000600359.3_Missense_Mutation_p.G890A|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	936	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCCACGGACGCCCGCCTGGAT	0.672																																																0													51	53	52					19																	18368726		2201	4295	6496	SO:0001583	missense	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2807G>C	chr19.hg19:g.18368726C>G	ENSP00000470780:p.Gly936Ala		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	hg19	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880834	0.17467	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.21932	1.98;1.98;1.98	4.33	-0.667	0.11395	.	0.473857	0.15866	N	0.240773	T	0.09992	0.0245	N	0.10972	0.075	0.09310	N	1	B;P	0.38148	0.101;0.62	B;P	0.45610	0.073;0.487	T	0.16988	-1.0384	10	0.16896	T	0.51	-0.3503	0.5212	0.00612	0.1866:0.3422:0.2124:0.2589	.	1123;936	E9PDE0;Q9H0B3	.;K1683_HUMAN	A	1123;936;890;200;550	ENSP00000376213:G1123A;ENSP00000352774:G936A;ENSP00000404501:G890A	ENSP00000352774:G936A	G	-	2	0	KIAA1683	18229726	0.000000	0.05858	0.002000	0.10522	0.074000	0.17049	0.457000	0.21875	0.249000	0.21456	0.313000	0.20887	GGC		0.672	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			G	18368726	C	G	18368726	3	3	72	1	0	0	0	0	1	0	0	0	8253	739	26	4	739	4	KIAA1683	19	18368726	Missense_Mutation	SNP	C	TCGA-A4-7997-01A-11D-2201-08	6242342	18368726	40760257	64	4940											
ZNF681	148213	hgsc.bcm.edu	37	19	23927146	23927146	+	Silent	SNP	A	A	G			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr19:23927146A>G	ENST00000402377.3	-	4	1347	c.1206T>C	c.(1204-1206)gcT>gcC	p.A402A	ZNF681_ENST00000395385.3_Silent_p.A333A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACTTGTTAAAAGCTTTGCCAC	0.398																																																0													69	74	72					19																	23927146		2203	4300	6503	SO:0001819	synonymous_variant	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1206T>C	chr19.hg19:g.23927146A>G			B3KVF7	Silent	SNP	ENST00000402377.3	hg19	CCDS12414.2																																																																																				0.398	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		G	23927146	A	G	23927146	2	3	72	1	0	0	0	0	0	0	0	1	18093	59	3	3		3	ZNF681	19	23927146	Silent	SNP	A	TCGA-A4-7997-01A-11D-2201-08	5558420	23927146	35201837	65	4941											
U2AF2	11338	hgsc.bcm.edu	37	19	56180114	56180114	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr19:56180114G>A	ENST00000308924.4	+	9	941	c.901G>A	c.(901-903)Ggc>Agc	p.G301S	CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.G137S|U2AF2_ENST00000450554.2_Missense_Mutation_p.G301S|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	301	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCTCTCCAAGGGCTACGCCTT	0.617																																																0													68	65	66					19																	56180114		2203	4300	6503	SO:0001583	missense	11338			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.901G>A	chr19.hg19:g.56180114G>A	ENSP00000307863:p.Gly301Ser		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	hg19	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448539	0.96205	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	D;T	0.83419	-1.72;0.1	4.4	4.4	0.53042	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.94683	0.8285	H	0.98646	4.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96949	0.9693	10	0.87932	D	0	-32.268	16.1527	0.81634	0.0:0.0:1.0:0.0	.	301;301	P26368;P26368-2	U2AF2_HUMAN;.	S	301	ENSP00000307863:G301S;ENSP00000388475:G301S	ENSP00000307863:G301S	G	+	1	0	U2AF2	60871926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.145000	0.94634	2.184000	0.69523	0.655000	0.94253	GGC		0.617	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		A	56180114	G	A	56180114	3	1	72	1	0	0	0	0	1	0	0	0	16828	1232	43	2	935	2	U2AF2	19	56180114	Missense_Mutation	SNP	G	TCGA-A4-7997-01A-11D-2201-08	32252968	56180114	2948869	66	4942											
TBC1D20	128637	hgsc.bcm.edu	37	20	419913	419913	+	Silent	SNP	G	G	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr20:419913G>T	ENST00000354200.4	-	7	942	c.795C>A	c.(793-795)gtC>gtA	p.V265V	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	265					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CACAGTCCAGGACTTCCTGCT	0.562																																																0													137	118	124					20																	419913		2203	4300	6503	SO:0001819	synonymous_variant	128637			AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"chromosome 20 open reading frame 140"	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.795C>A	chr20.hg19:g.419913G>T			A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Silent	SNP	ENST00000354200.4	hg19	CCDS13002.1																																																																																				0.562	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		T	419913	G	T	419913	2	4	72	1	0	0	0	0	0	0	0	1	15614	1161	41	4		4	TBC1D20	20	419913	Silent	SNP	G	TCGA-A4-7997-01A-11D-2201-08		419913	62605607	67	4943											
FAM65C	140876	hgsc.bcm.edu	37	20	49219116	49219116	+	Silent	SNP	G	G	A			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr20:49219116G>A	ENST00000327979.2	-	13	1551	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	FAM65C_ENST00000535356.1_Silent_p.L384L|FAM65C_ENST00000045083.2_Silent_p.L380L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	380										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAGGTAGCTGAGGATGGAGG	0.637																																																0													26	28	27					20																	49219116		2061	4109	6170	SO:0001819	synonymous_variant	140876			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1140C>T	chr20.hg19:g.49219116G>A			Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	hg19	CCDS13431.2																																																																																				0.637	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			A	49219116	G	A	49219116	2	1	72	1	0	0	0	0	0	0	0	1	5603	1277	45	2		2	FAM65C	20	49219116	Silent	SNP	G	TCGA-A4-7997-01A-11D-2201-08	48799203	49219116	13806404	68	4944											
CYP24A1	1591	hgsc.bcm.edu	37	20	52773943	52773943	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr20:52773943T>C	ENST00000216862.3	-	10	1811	c.1418A>G	c.(1417-1419)cAt>cGt	p.H473R	CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000460643.1_5'Flank|CYP24A1_ENST00000395954.3_Missense_Mutation_p.H331R	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	473					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AAGAGCCAAATGCAGTTGAAG	0.423																																																0													81	76	78					20																	52773943		2203	4300	6503	SO:0001583	missense	1591			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1418A>G	chr20.hg19:g.52773943T>C	ENSP00000216862:p.His473Arg		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	hg19	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	t	15.34	2.805491	0.50315	.	.	ENSG00000019186	ENST00000216862;ENST00000395954	T;T	0.67345	-0.26;-0.26	5.2	4.06	0.47325	.	0.101356	0.64402	D	0.000001	T	0.63698	0.2533	N	0.25992	0.78	0.41376	D	0.987529	D;P	0.54964	0.969;0.934	P;B	0.55161	0.77;0.424	T	0.60979	-0.7155	10	0.33141	T	0.24	-19.4807	11.563	0.50788	0.0:0.0:0.1498:0.8502	.	473;331	Q07973;Q5I2W7	CP24A_HUMAN;.	R	473;331	ENSP00000216862:H473R;ENSP00000379284:H331R	ENSP00000216862:H473R	H	-	2	0	CYP24A1	52207350	1.000000	0.71417	0.969000	0.41365	0.303000	0.27691	4.744000	0.62118	0.884000	0.36064	0.451000	0.29950	CAT		0.423	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			C	52773943	T	C	52773943	3	2	72	1	0	0	0	0	1	0	0	0	4156	1464	51	3	134	3	CYP24A1	20	52773943	Missense_Mutation	SNP	T	TCGA-A4-7997-01A-11D-2201-08	3554827	52773943	10251577	69	4945											
APP	351	hgsc.bcm.edu	37	21	27348294	27348294	+	Silent	SNP	A	A	C			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chr21:27348294A>C	ENST00000346798.3	-	10	1305	c.1272T>G	c.(1270-1272)ccT>ccG	p.P424P	APP_ENST00000359726.3_Silent_p.P368P|APP_ENST00000357903.3_Silent_p.P405P|APP_ENST00000440126.3_Silent_p.P400P|APP_ENST00000439274.2_Silent_p.P368P|APP_ENST00000348990.5_Silent_p.P349P|APP_ENST00000358918.3_Silent_p.P424P|APP_ENST00000448388.2_Silent_p.P314P|APP_ENST00000354192.3_Silent_p.P293P	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	424					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TATCAGCTTTAGGCAAGTTCT	0.383																																																0													249	199	216					21																	27348294		2203	4300	6503	SO:0001819	synonymous_variant	351			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1272T>G	chr21.hg19:g.27348294A>C			B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Silent	SNP	ENST00000346798.3	hg19	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472507	0.26423	.	.	ENSG00000142192	ENST00000448850;ENST00000415997	.	.	.	5.11	-5.12	0.02893	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.1356	2.2262	0.03985	0.1134:0.1931:0.3431:0.3504	.	.	.	.	E	327;159	.	.	X	-	1	0	APP	26270165	0.085000	0.21516	0.973000	0.42090	0.999000	0.98932	-0.688000	0.05150	-0.726000	0.04895	0.529000	0.55759	TAA		0.383	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		C	27348294	A	C	27348294	2	2	72	1	0	0	0	0	0	0	0	1	815	407	15	5		5	APP	21	27348294	Silent	SNP	A	TCGA-A4-7997-01A-11D-2201-08		27348294	20781601	70	4946											
WNK3	65267	hgsc.bcm.edu	37	X	54259340	54259340	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-7997-01A-11D-2201-08	TCGA-A4-7997-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af158dec-5dad-4b6e-ad38-057aa9b6203c	df84187c-0ad5-45ed-9df9-6402364de115	g.chrX:54259340A>T	ENST00000375159.2	-	20	4741	c.4742T>A	c.(4741-4743)tTg>tAg	p.L1581*	WNK3_ENST00000375169.3_Nonsense_Mutation_p.L1534*|WNK3_ENST00000354646.2_Nonsense_Mutation_p.L1581*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1581					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGCAGGTGGCAAAGGAATCTC	0.473																																																0													161	143	149					X																	54259340		2203	4300	6503	SO:0001587	stop_gained	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4742T>A	chrX.hg19:g.54259340A>T	ENSP00000364301:p.Leu1581*		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	hg19	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	A	44	10.908169	0.99487	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.69	3.25	0.37280	.	0.330632	0.21916	N	0.067229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0621	4.1221	0.10109	0.6809:0.0:0.1657:0.1534	.	.	.	.	X	1534;1581;1581	.	ENSP00000346667:L1581X	L	-	2	0	WNK3	54276065	0.522000	0.26266	0.845000	0.33349	0.967000	0.64934	1.485000	0.35519	0.262000	0.21774	0.481000	0.45027	TTG		0.473	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		T	54259340	A	T	54259340	4	4	72	1	0	0	0	0	0	1	0	0	17384	131	5	5	676	5	WNK3	23	54259340	Nonsense_Mutation	SNP	A	TCGA-A4-7997-01A-11D-2201-08		54259340	101011220	71	4947											
ITGA10	8515	hgsc.bcm.edu	37	1	145532515	145532515	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:145532515G>A	ENST00000369304.3	+	9	1143	c.968G>A	c.(967-969)aGa>aAa	p.R323K	ITGA10_ENST00000538811.1_Missense_Mutation_p.R192K|ITGA10_ENST00000539363.1_Missense_Mutation_p.R180K|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	323	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAGAAATTAGAACTATTGCC	0.473																																																0													144	138	140					1																	145532515		2203	4300	6503	SO:0001583	missense	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.968G>A	chr1.hg19:g.145532515G>A	ENSP00000358310:p.Arg323Lys		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	hg19	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	7.649	0.682583	0.14907	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	D;D;D	0.83914	-1.78;-1.78;-1.78	5.27	4.34	0.51931	von Willebrand factor, type A (3);	0.060779	0.64402	D	0.000004	T	0.34600	0.0903	N	0.01771	-0.73	0.35261	D	0.779612	B;B;B;B	0.18741	0.024;0.024;0.024;0.03	B;B;B;B	0.23150	0.021;0.021;0.044;0.036	T	0.39292	-0.9621	10	0.02654	T	1	.	7.3767	0.26833	0.1809:0.0:0.8191:0.0	.	289;192;180;323	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	K	323;289;180;192	ENSP00000358310:R323K;ENSP00000439894:R180K;ENSP00000440011:R192K	ENSP00000358310:R323K	R	+	2	0	ITGA10	144243872	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	5.786000	0.69006	2.653000	0.90120	0.561000	0.74099	AGA		0.473	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		A	145532515	G	A	145532515	3	1	73	1	0	0	0	0	1	0	0	0	7875	942	33	2	1002	2	ITGA10	1	145532515	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08		145532515	103718106	1	4948											
SEMA6C	10500	hgsc.bcm.edu	37	1	151109386	151109386	+	Silent	SNP	C	C	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:151109386C>T	ENST00000341697.3	-	11	2612	c.921G>A	c.(919-921)gtG>gtA	p.V307V				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	307	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATGCAGGTTCACAGGCCCAG	0.542																																																0													101	108	106					1																	151109386		2203	4300	6503	SO:0001819	synonymous_variant	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.921G>A	chr1.hg19:g.151109386C>T			D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	hg19	CCDS984.1																																																																																				0.542	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		T	151109386	C	T	151109386	2	4	73	1	0	0	0	0	0	0	0	1	14047	813	29	2		2	SEMA6C	1	151109386	Silent	SNP	C	TCGA-A4-8098-01A-11D-2396-08	5576871	151109386	98141235	2	4949											
PEAR1	375033	hgsc.bcm.edu	37	1	156877993	156877993	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:156877993C>T	ENST00000338302.3	+	10	1201	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	PEAR1_ENST00000292357.7_Missense_Mutation_p.R326C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	326	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCGGACGCCCGTTGCTTCCC	0.692																																																0													21	26	24					1																	156877993		2202	4296	6498	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.976C>T	chr1.hg19:g.156877993C>T	ENSP00000344465:p.Arg326Cys		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	hg19	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373658	0.82573	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.18016	2.24;2.24	4.33	4.33	0.51752	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.152429	0.30920	N	0.008604	T	0.30603	0.0770	M	0.72479	2.2	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.70016	0.953;0.967	T	0.05582	-1.0876	10	0.62326	D	0.03	.	14.3643	0.66795	0.0:1.0:0.0:0.0	.	127;326	Q8N780;Q5VY43	.;PEAR1_HUMAN	C	326	ENSP00000344465:R326C;ENSP00000292357:R326C	ENSP00000292357:R326C	R	+	1	0	PEAR1	155144617	0.978000	0.34361	1.000000	0.80357	0.896000	0.52359	2.495000	0.45337	2.230000	0.72887	0.561000	0.74099	CGT		0.692	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		T	156877993	C	T	156877993	3	4	73	1	0	0	0	0	1	0	0	0	11714	652	23	1	1006	1	PEAR1	1	156877993	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	5768607	156877993	92372628	3	4950											
DUSP27	92235	hgsc.bcm.edu	37	1	167096129	167096129	+	Silent	SNP	A	A	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:167096129A>G	ENST00000361200.2	+	6	1927	c.1761A>G	c.(1759-1761)acA>acG	p.T587T	DUSP27_ENST00000271385.5_Silent_p.T587T|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.T587T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	587					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCAGCCTGACAGCCTACCAGG	0.597																																																0													45	45	45					1																	167096129		2203	4300	6503	SO:0001819	synonymous_variant	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1761A>G	chr1.hg19:g.167096129A>G			A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	hg19	CCDS30932.1																																																																																				0.597	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		G	167096129	A	G	167096129	2	3	73	1	0	0	0	0	0	0	0	1	4826	175	7	3		3	DUSP27	1	167096129	Silent	SNP	A	TCGA-A4-8098-01A-11D-2396-08	10218136	167096129	82154492	4	4951											
ATP1B1	481	hgsc.bcm.edu	37	1	169100749	169100768	+	Frame_Shift_Del	DEL	CGTTTTCAGGGACGTTTTGA	CGTTTTCAGGGACGTTTTGA	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	CGTTTTCAGGGACGTTTTGA	CGTTTTCAGGGACGTTTTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:169100749_169100768delCGTTTTCAGGGACGTTTTGA	ENST00000367816.1	+	7	1397_1416	c.868_887delCGTTTTCAGGGACGTTTTGA	c.(868-888)cgttttcagggacgttttgatfs	p.RFQGRFD290fs	ATP1B1_ENST00000367815.4_Frame_Shift_Del_p.RFQGRFD290fs|ATP1B1_ENST00000367813.3_Frame_Shift_Del_p.RFQGRFD282fs|ATP1B1_ENST00000499679.3_Frame_Shift_Del_p.RFQGRFD234fs			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	290	immunoglobulin-like.				blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.R290S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TGAGAAAGACCGTTTTCAGGGACGTTTTGATGTAAAAATT	0.4																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.868_887delCGTTTTCAGGGACGTTTTGA	chr1.hg19:g.169100749_169100768delCGTTTTCAGGGACGTTTTGA	ENSP00000356790:p.Arg290fs		Q5TGZ3	Frame_Shift_Del	DEL	ENST00000367816.1	hg19	CCDS1276.1																																																																																				0.4	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			-	169100768	CGTTTTCAGGGACGTTTTGA	-	169100749	7	5	73	1	0	1	0	1	0	0	0	0	1132	652	23	0	890	0	ATP1B1	1	169100749	Frame_Shift_Del	DEL	CGTTTTCAGGGACGTTTTGA	TCGA-A4-8098-01A-11D-2396-08	2004620	169100749	80149872	5	4952											
C1orf112	55732	hgsc.bcm.edu	37	1	169806133	169806133	+	Silent	SNP	C	C	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:169806133C>T	ENST00000286031.6	+	17	2305	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	C1orf112_ENST00000359326.4_Silent_p.S535S|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	535										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACATATTTCCTTCCAGGCGT	0.438																																																0													73	69	71					1																	169806133		2203	4300	6503	SO:0001819	synonymous_variant	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1605C>T	chr1.hg19:g.169806133C>T			A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	hg19	CCDS1285.1																																																																																				0.438	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		T	169806133	C	T	169806133	2	4	73	1	0	0	0	0	0	0	0	1	1987	668	24	2		2	C1orf112	1	169806133	Silent	SNP	C	TCGA-A4-8098-01A-11D-2396-08	705384	169806133	79444488	6	4953											
PPFIA4	8497	hgsc.bcm.edu	37	1	203025587	203025587	+	Silent	SNP	C	C	A	rs549873910		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:203025587C>A	ENST00000447715.2	+	23	2566	c.2125C>A	c.(2125-2127)Cgg>Agg	p.R709R	PPFIA4_ENST00000295706.4_Silent_p.R225R|PPFIA4_ENST00000414050.2_Silent_p.R438R|PPFIA4_ENST00000367240.2_Silent_p.R710R|PPFIA4_ENST00000599966.1_Silent_p.R225R|PPFIA4_ENST00000272198.6_Silent_p.R225R			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	709					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.R856W(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGGACGCTGCGGCTAGAGAA	0.567																																																1	Substitution - Missense(1)	large_intestine(1)											37	43	41					1																	203025587		2040	4173	6213	SO:0001819	synonymous_variant	8497			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2125C>A	chr1.hg19:g.203025587C>A			A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	hg19																																																																																					0.567	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		A	203025587	C	A	203025587	2	1	73	1	0	0	0	0	0	0	0	1	12314	759	27	4		4	PPFIA4	1	203025587	Silent	SNP	C	TCGA-A4-8098-01A-11D-2396-08	33219454	203025587	46225034	7	4954											
EMILIN1	11117	hgsc.bcm.edu	37	2	27306240	27306240	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:27306240C>A	ENST00000380320.4	+	4	2300	c.1801C>A	c.(1801-1803)Cgc>Agc	p.R601S		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	601					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTGTGGAGCGCTGCTCCTG	0.697																																																0													31	38	36					2																	27306240		2181	4280	6461	SO:0001583	missense	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1801C>A	chr2.hg19:g.27306240C>A	ENSP00000369677:p.Arg601Ser		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	hg19	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504285	0.44558	.	.	ENSG00000138080	ENST00000380320	T	0.62364	0.03	4.73	4.73	0.59995	.	0.252874	0.30859	N	0.008737	T	0.40322	0.1112	N	0.08118	0	0.31742	N	0.635692	B	0.29646	0.253	B	0.31290	0.127	T	0.43556	-0.9384	10	0.15066	T	0.55	-16.6262	13.0709	0.59061	0.0:1.0:0.0:0.0	.	601	Q9Y6C2	EMIL1_HUMAN	S	601	ENSP00000369677:R601S	ENSP00000369677:R601S	R	+	1	0	EMILIN1	27159744	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.045000	0.30341	2.456000	0.83038	0.561000	0.74099	CGC		0.697	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		A	27306240	C	A	27306240	3	1	73	1	0	0	0	0	1	0	0	0	5095	768	27	4	1815	4	EMILIN1	2	27306240	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08		27306240	215893133	8	4955											
EIF2AK2	5610	hgsc.bcm.edu	37	2	37365711	37365711	+	Silent	SNP	G	G	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:37365711G>A	ENST00000233057.4	-	7	856	c.534C>T	c.(532-534)tcC>tcT	p.S178S	EIF2AK2_ENST00000405334.1_Silent_p.S178S|EIF2AK2_ENST00000395127.2_Silent_p.S178S	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	178					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAGAACCAGAGGACAGGTAGT	0.363																																																0													90	93	92					2																	37365711		2203	4300	6503	SO:0001819	synonymous_variant	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.534C>T	chr2.hg19:g.37365711G>A			A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Silent	SNP	ENST00000233057.4	hg19	CCDS1786.1																																																																																				0.363	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		A	37365711	G	A	37365711	2	1	73	1	0	0	0	0	0	0	0	1	4999	987	35	2		2	EIF2AK2	2	37365711	Silent	SNP	G	TCGA-A4-8098-01A-11D-2396-08	10059471	37365711	205833662	9	4956											
KIAA1841	84542	hgsc.bcm.edu	37	2	61310382	61310382	+	Missense_Mutation	SNP	C	C	A	rs140620846	byFrequency	TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:61310382C>A	ENST00000402291.1	+	8	1064	c.823C>A	c.(823-825)Cgt>Agt	p.R275S	KIAA1841_ENST00000356719.2_Missense_Mutation_p.R275S|KIAA1841_ENST00000295031.5_Missense_Mutation_p.R275S|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.R275S	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	275										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TCTTCTCACACGTATAGCTGA	0.303																																																0													104	88	94					2																	61310382		2203	4299	6502	SO:0001583	missense	84542			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.823C>A	chr2.hg19:g.61310382C>A	ENSP00000385579:p.Arg275Ser		Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	hg19	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975234	0.74360	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.48	-0.618	0.11576	.	0.109289	0.64402	D	0.000006	T	0.63674	0.2531	M	0.83223	2.63	0.43936	D	0.99659	D;P;D	0.57571	0.963;0.902;0.98	P;P;P	0.52881	0.677;0.637;0.712	T	0.62445	-0.6853	9	0.87932	D	0	-4.9877	6.0162	0.19605	0.1151:0.5612:0.0:0.3237	.	275;275;275	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	S	275	.	ENSP00000295031:R275S	R	+	1	0	KIAA1841	61163886	0.999000	0.42202	0.895000	0.35142	0.966000	0.64601	3.890000	0.56220	-0.342000	0.08363	-0.119000	0.15052	CGT		0.303	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		A	61310382	C	A	61310382	3	1	73	1	0	0	0	0	1	0	0	0	8263	536	19	4	845	4	KIAA1841	2	61310382	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	23944671	61310382	181888991	10	4957											
GPAT2	150763	hgsc.bcm.edu	37	2	96687959	96687959	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:96687959A>T	ENST00000434632.1	-	23	2795	c.2336T>A	c.(2335-2337)cTg>cAg	p.L779Q	GPAT2_ENST00000359548.4_Missense_Mutation_p.L779Q|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Missense_Mutation_p.L708Q|GPAT2_ENST00000377137.3_3'UTR			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	779					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.L779Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGATTGTCCAGGCTGGCAAA	0.567																																																2	Substitution - Missense(2)	skin(2)											30	30	30					2																	96687959		1847	4102	5949	SO:0001583	missense	150763			BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2336T>A	chr2.hg19:g.96687959A>T	ENSP00000389395:p.Leu779Gln		Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	hg19	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	t	0.005	-2.199373	0.00299	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.74526	-0.85;-0.85;0.16	4.97	-1.85	0.07784	.	.	.	.	.	T	0.31857	0.0810	N	0.00483	-1.445	0.09310	N	0.999997	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.39187	-0.9626	9	0.02654	T	1	-26.1951	5.7343	0.18057	0.1497:0.2636:0.0:0.5866	.	708;785;779;708	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	Q	779;779;708	ENSP00000352547:L779Q;ENSP00000389395:L779Q;ENSP00000393770:L708Q	ENSP00000352547:L779Q	L	-	2	0	GPAT2	96051686	0.001000	0.12720	0.375000	0.26029	0.081000	0.17604	-0.019000	0.12546	-0.483000	0.06772	-0.751000	0.03497	CTG		0.567	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		T	96687959	A	T	96687959	3	4	73	1	0	0	0	0	1	0	0	0	6591	188	7	5	55	5	GPAT2	2	96687959	Missense_Mutation	SNP	A	TCGA-A4-8098-01A-11D-2396-08	35377577	96687959	146511414	11	4958											
CNNM4	26504	hgsc.bcm.edu	37	2	97428127	97428127	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:97428127A>G	ENST00000377075.2	+	1	1489	c.1391A>G	c.(1390-1392)gAg>gGg	p.E464G		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	464	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ATGCTGGAGGAGTTCAAGAAG	0.517																																																0													87	83	85					2																	97428127		2203	4300	6503	SO:0001583	missense	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1391A>G	chr2.hg19:g.97428127A>G	ENSP00000366275:p.Glu464Gly		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	hg19	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	A	20.1	3.937929	0.73557	.	.	ENSG00000158158	ENST00000377075	D	0.93712	-3.27	5.26	5.26	0.73747	Cystathionine beta-synthase, core (2);	0.000000	0.85682	D	0.000000	D	0.96623	0.8898	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97084	0.9786	10	0.66056	D	0.02	-1.1101	14.1805	0.65572	1.0:0.0:0.0:0.0	.	464	Q6P4Q7	CNNM4_HUMAN	G	464	ENSP00000366275:E464G	ENSP00000366275:E464G	E	+	2	0	CNNM4	96791854	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.281000	0.95811	1.996000	0.58369	0.533000	0.62120	GAG		0.517	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		G	97428127	A	G	97428127	3	3	73	1	0	0	0	0	1	0	0	0	3617	304	11	3	1393	3	CNNM4	2	97428127	Missense_Mutation	SNP	A	TCGA-A4-8098-01A-11D-2396-08	740168	97428127	145771246	12	4959											
TMEM131	23505	hgsc.bcm.edu	37	2	98413329	98413329	+	Silent	SNP	T	T	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:98413329T>A	ENST00000186436.5	-	27	3219	c.2991A>T	c.(2989-2991)gcA>gcT	p.A997A		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	997						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTTTTAACAATGCTTCCGTGA	0.393																																																0													109	108	109					2																	98413329		1899	4122	6021	SO:0001819	synonymous_variant	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2991A>T	chr2.hg19:g.98413329T>A				Silent	SNP	ENST00000186436.5	hg19	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		A	98413329	T	A	98413329	2	1	73	1	0	0	0	0	0	0	0	1	16049	1451	51	5		5	TMEM131	2	98413329	Silent	SNP	T	TCGA-A4-8098-01A-11D-2396-08	985202	98413329	144786044	13	4960											
GALNT5	11227	hgsc.bcm.edu	37	2	158115698	158115699	+	Frame_Shift_Ins	INS	-	-	T	rs141648249		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:158115698_158115699insT	ENST00000259056.4	+	1	1589_1590	c.1104_1105insT	c.(1105-1107)tctfs	p.S369fs		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	369					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGATGTCTTCCTCTTCACTTGC	0.416																																																0																																										SO:0001589	frameshift_variant	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1105dupT	chr2.hg19:g.158115699_158115699dupT	ENSP00000259056:p.Ser369fs		A5PKZ1|Q9UGK7|Q9UHL6	Frame_Shift_Ins	INS	ENST00000259056.4	hg19	CCDS2203.1																																																																																				0.416	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		T	158115699	-	T	158115698	7	5	73	1	0	1	1	0	0	0	0	0	6218	668	24	0	1106	0	GALNT5	2	158115698	Frame_Shift_Ins	INS	-	TCGA-A4-8098-01A-11D-2396-08	59702369	158115698	85083675	14	4961											
COL6A3	1293	hgsc.bcm.edu	37	2	238280361	238280361	+	Intron	SNP	C	C	T	rs373893821		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:238280361C>T	ENST00000295550.4	-	9	4738				COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Silent_p.A1026A|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392004.3_Silent_p.A1227A|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A1227A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAACCTCCGACGCCCCCATCT	0.473																																																1	Substitution - coding silent(1)	lung(1)						C	,,,,	1,4405	2.1+/-5.4	0,1,2202	69	78	75		,3078,3681,,	-1.3	0	2		75	0,8600		0,0,4300	no	intron,coding-synonymous,coding-synonymous,intron,intron	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	,1026/1037,1227/1238,,	238280361	1,13005	2203	4300	6503	SO:0001627	intron_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4285+13G>A	chr2.hg19:g.238280361C>T			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	hg19	CCDS33412.1																																																																																				0.473	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238280361	C	T	238280361	1	4	73	0	1	0	0	0	0	0	0	0	3703	523	19	1		1	COL6A3	2	238280361	Intron	SNP	C	TCGA-A4-8098-01A-11D-2396-08	80164663	238280361	4919012	15	4962											
CAPN7	23473	hgsc.bcm.edu	37	3	15288921	15288921	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr3:15288921A>G	ENST00000253693.2	+	19	2414	c.2161A>G	c.(2161-2163)Ata>Gta	p.I721V		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	721	Domain N.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CCAATTCCATATAGAAAAGAC	0.363																																																0													84	84	84					3																	15288921		2203	4300	6503	SO:0001583	missense	23473			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.2161A>G	chr3.hg19:g.15288921A>G	ENSP00000253693:p.Ile721Val			Missense_Mutation	SNP	ENST00000253693.2	hg19	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	A	7.495	0.651423	0.14516	.	.	ENSG00000131375	ENST00000253693	D	0.85629	-2.01	5.57	-3.39	0.04868	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.669254	0.16098	N	0.229700	T	0.62816	0.2459	N	0.16266	0.395	0.21105	N	0.999789	B	0.02656	0.0	B	0.12837	0.008	T	0.49244	-0.8960	10	0.15066	T	0.55	-2.6499	1.3262	0.02126	0.3616:0.1918:0.2926:0.154	.	721	Q9Y6W3	CAN7_HUMAN	V	721	ENSP00000253693:I721V	ENSP00000253693:I721V	I	+	1	0	CAPN7	15263925	0.062000	0.20869	0.564000	0.28396	0.978000	0.69477	-0.068000	0.11561	-0.127000	0.11661	0.533000	0.62120	ATA		0.363	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		G	15288921	A	G	15288921	3	3	73	1	0	0	0	0	1	0	0	0	2633	449	16	3	2235	3	CAPN7	3	15288921	Missense_Mutation	SNP	A	TCGA-A4-8098-01A-11D-2396-08		15288921	182733509	16	4963											
ACAA1	30	hgsc.bcm.edu	37	3	38168151	38168151	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr3:38168151T>G	ENST00000333167.8	-	8	839	c.667A>C	c.(667-669)Att>Ctt	p.I223L	ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000301810.7_Missense_Mutation_p.I190L|ACAA1_ENST00000544624.1_Missense_Mutation_p.I71L|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.I182L|Y_RNA_ENST00000365095.1_RNA	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	223					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		ACAGGCACAATCTCAGCTTGG	0.612																																																0													146	120	129					3																	38168151		2203	4300	6503	SO:0001583	missense	30			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.667A>C	chr3.hg19:g.38168151T>G	ENSP00000333664:p.Ile223Leu		G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	hg19	CCDS2673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.183188|5.183188	0.94885|0.94885	.|.	.|.	ENSG00000060971|ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000544624|ENST00000452171;ENST00000421218	D;D;D;D|.	0.93547|.	-3.11;-3.11;-3.24;-3.24|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78892|0.78892	0.4355|0.4355	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.71674|.	0.911;0.997;0.998;0.993|.	D;D;D;D|.	0.85130|.	0.926;0.914;0.997;0.956|.	T|T	0.81484|0.81484	-0.0912|-0.0912	10|5	0.87932|.	D|.	0|.	-10.3475|-10.3475	15.5417|15.5417	0.76057|0.76057	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	155;182;190;223|.	F5GXL8;C9JDE9;G5E935;P09110|.	.;.;.;THIK_HUMAN|.	L|S	223;190;182;155;71|95;112	ENSP00000333664:I223L;ENSP00000301810:I190L;ENSP00000395183:I182L;ENSP00000445710:I71L|.	ENSP00000301810:I190L|.	I|R	-|-	1|3	0|2	ACAA1|ACAA1	38143155|38143155	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.998000|0.998000	0.95712|0.95712	6.148000|6.148000	0.71788|0.71788	2.072000|2.072000	0.62099|0.62099	0.533000|0.533000	0.62120|0.62120	ATT|AGA		0.612	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		G	38168151	T	G	38168151	3	3	73	1	0	0	0	0	1	0	0	0	104	1435	50	5	627	5	ACAA1	3	38168151	Missense_Mutation	SNP	T	TCGA-A4-8098-01A-11D-2396-08	22879230	38168151	159854279	17	4964											
TGM4	7047	hgsc.bcm.edu	37	3	44926858	44926858	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr3:44926858G>T	ENST00000296125.4	+	2	129	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	21					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCAGGACAACGCCGTTTCTCA	0.522																																																0													102	93	96					3																	44926858		2203	4300	6503	SO:0001583	missense	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.61G>T	chr3.hg19:g.44926858G>T	ENSP00000296125:p.Ala21Ser		Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	hg19	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	9.481	1.098065	0.20552	.	.	ENSG00000163810	ENST00000296125	D	0.84873	-1.91	2.77	-1.63	0.08345	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.329666	0.20233	U	0.096458	T	0.70850	0.3271	L	0.33245	0.995	0.09310	N	1	B;P	0.36027	0.448;0.533	B;B	0.37047	0.24;0.1	T	0.62296	-0.6884	10	0.10902	T	0.67	.	6.6582	0.22998	0.4424:0.0:0.5576:0.0	.	21;21	P49221;B4YUQ1	TGM4_HUMAN;.	S	21	ENSP00000296125:A21S	ENSP00000296125:A21S	A	+	1	0	TGM4	44901862	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.711000	0.05019	-0.425000	0.07371	0.467000	0.42956	GCC		0.522	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		T	44926858	G	T	44926858	3	4	73	1	0	0	0	0	1	0	0	0	15837	1087	38	4	67	4	TGM4	3	44926858	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	6758707	44926858	153095572	18	4965											
SETD2	29072	hgsc.bcm.edu	37	3	47127778	47127778	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr3:47127778C>A	ENST00000409792.3	-	11	5346	c.5304G>T	c.(5302-5304)aaG>aaT	p.K1768N	SETD2_ENST00000492397.1_5'Flank|snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1768					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCAGAAAGGACTTCAGGCAGG	0.512			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													127	110	116					3																	47127778		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5304G>T	chr3.hg19:g.47127778C>A	ENSP00000386759:p.Lys1768Asn		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988848	0.74589	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.90504	-2.68	5.47	4.52	0.55395	.	0.000000	0.56097	D	0.000025	D	0.93220	0.7840	M	0.62723	1.935	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.91914	0.5542	10	0.42905	T	0.14	.	9.269	0.37659	0.0:0.8236:0.0:0.1764	.	1768;1768	F2Z317;Q9BYW2	.;SETD2_HUMAN	N	1768	ENSP00000386759:K1768N	ENSP00000386759:K1768N	K	-	3	2	SETD2	47102782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.865000	0.39479	1.167000	0.42706	0.650000	0.86243	AAG		0.512	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47127778	C	A	47127778	3	1	73	1	0	0	0	0	1	0	0	0	14137	564	20	4	2434	4	SETD2	3	47127778	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	2200920	47127778	150894652	19	4966											
TMEM175	84286	hgsc.bcm.edu	37	4	947053	947053	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:947053C>G	ENST00000264771.4	+	8	723	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	TMEM175_ENST00000515740.1_Missense_Mutation_p.L64V|TMEM175_ENST00000508204.1_Missense_Mutation_p.L98V|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	180						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCACAGGGCTCTGTACCGACG	0.617																																																0													120	100	107					4																	947053		2203	4300	6503	SO:0001583	missense	84286			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.538C>G	chr4.hg19:g.947053C>G	ENSP00000264771:p.Leu180Val		D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	hg19	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	c	0.044	-1.272845	0.01421	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.46819	1.44;0.94;1.49;0.86	4.71	-0.169	0.13339	.	0.217286	0.39083	N	0.001461	T	0.31263	0.0791	L	0.54323	1.7	0.09310	N	1	B;B;B	0.20887	0.001;0.049;0.031	B;B;B	0.19666	0.001;0.026;0.005	T	0.11251	-1.0595	10	0.15499	T	0.54	-27.4926	1.8457	0.03158	0.1956:0.2847:0.3858:0.1339	.	98;180;98	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	V	180;167;98;98;86;64;98;98	ENSP00000264771:L180V;ENSP00000425181:L167V;ENSP00000427039:L64V;ENSP00000423669:L98V	ENSP00000264771:L180V	L	+	1	2	TMEM175	937053	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.647000	0.24812	0.040000	0.15660	-0.322000	0.08575	CTG		0.617	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		G	947053	C	G	947053	3	3	73	1	0	0	0	0	1	0	0	0	16096	912	32	4	564	4	TMEM175	4	947053	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08		947053	190207223	20	4967											
FGFR3	2261	hgsc.bcm.edu	37	4	1805487	1805487	+	Silent	SNP	C	C	T	rs370530264		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:1805487C>T	ENST00000260795.2	+	7	1101	c.999C>T	c.(997-999)gaC>gaT	p.D333D	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000481110.2_Silent_p.D333D|FGFR3_ENST00000440486.2_Silent_p.D333D|FGFR3_ENST00000412135.2_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	333	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCTTTGAGGACGCCGGGGAGT	0.592		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	0								C	,,	0,4406		0,0,2203	101	99	100		999,,	-1.1	1	4		100	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron,intron	FGFR3	NM_000142.4,NM_001163213.1,NM_022965.3	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	333/807,,	1805487	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.999C>T	chr4.hg19:g.1805487C>T			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	hg19	CCDS3353.1																																																																																				0.592	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		T	1805487	C	T	1805487	2	4	73	1	0	0	0	0	0	0	0	1	5869	535	19	1		1	FGFR3	4	1805487	Silent	SNP	C	TCGA-A4-8098-01A-11D-2396-08	858434	1805487	189348789	21	4968											
HGFAC	3083	hgsc.bcm.edu	37	4	3443800	3443800	+	Silent	SNP	G	G	C	rs372137428		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:3443800G>C	ENST00000382774.3	+	1	187	c.72G>C	c.(70-72)ctG>ctC	p.L24L	HGFAC_ENST00000511533.1_Silent_p.L24L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	24					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTGCTGCTGCTGC	0.716													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13355	0.0		0.0	False		,,,				2504	0.0															0								G		5,3433		0,5,1714	13	16	15		72	0.1	1	4		15	0,7164		0,0,3582	no	coding-synonymous	HGFAC	NM_001528.2		0,5,5296	CC,CG,GG		0.0,0.1454,0.0472		24/656	3443800	5,10597	1719	3582	5301	SO:0001819	synonymous_variant	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.72G>C	chr4.hg19:g.3443800G>C			Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	hg19	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			C	3443800	G	C	3443800	2	2	73	1	0	0	0	0	0	0	0	1	7088	1306	46	4		4	HGFAC	4	3443800	Silent	SNP	G	TCGA-A4-8098-01A-11D-2396-08	1638313	3443800	187710476	22	4969											
DRD5	1816	hgsc.bcm.edu	37	4	9784197	9784197	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:9784197A>T	ENST00000304374.2	+	1	940	c.544A>T	c.(544-546)Agg>Tgg	p.R182W		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	182					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CAACTGGCACAGGGACCAGGC	0.617																																																0													35	36	35					4																	9784197		2203	4299	6502	SO:0001583	missense	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.544A>T	chr4.hg19:g.9784197A>T	ENSP00000306129:p.Arg182Trp		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	hg19	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	16.35	3.098148	0.56183	.	.	ENSG00000169676	ENST00000304374	T	0.73047	-0.71	4.53	-6.0	0.02206	GPCR, rhodopsin-like superfamily (1);	0.214762	0.44483	D	0.000455	T	0.80088	0.4559	M	0.74881	2.28	0.37769	D	0.926595	D	0.71674	0.998	D	0.70935	0.971	T	0.82639	-0.0358	10	0.87932	D	0	.	17.6446	0.88145	0.2761:0.7239:0.0:0.0	.	182	P21918	DRD5_HUMAN	W	182	ENSP00000306129:R182W	ENSP00000306129:R182W	R	+	1	2	DRD5	9393295	1.000000	0.71417	0.162000	0.22713	0.673000	0.39480	3.173000	0.50839	-1.286000	0.02384	-0.973000	0.02599	AGG		0.617	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			T	9784197	A	T	9784197	3	4	73	1	0	0	0	0	1	0	0	0	4762	179	7	5	546	5	DRD5	4	9784197	Missense_Mutation	SNP	A	TCGA-A4-8098-01A-11D-2396-08	6340397	9784197	181370079	23	4970											
ANK2	287	hgsc.bcm.edu	37	4	114232517	114232517	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:114232517T>A	ENST00000357077.4	+	24	2708	c.2655T>A	c.(2653-2655)aaT>aaA	p.N885K	ANK2_ENST00000264366.6_Missense_Mutation_p.N885K|ANK2_ENST00000394537.3_Missense_Mutation_p.N885K|ANK2_ENST00000509550.1_Missense_Mutation_p.N94K|ANK2_ENST00000506722.1_Missense_Mutation_p.N864K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	885					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGGTATGAATTACCTGCGAT	0.438																																																0													163	134	144					4																	114232517		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2655T>A	chr4.hg19:g.114232517T>A	ENSP00000349588:p.Asn885Lys		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.511662	0.27036	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.75154	-0.04;0.07;-0.13;-0.04;-0.12;-0.17;-0.2;-0.91	5.15	-2.52	0.06346	.	0.000000	0.53938	D	0.000056	T	0.53932	0.1827	L	0.27053	0.805	0.80722	D	1	B;P;B;P;B;B	0.44627	0.0;0.839;0.372;0.835;0.026;0.288	B;B;B;B;B;B	0.36719	0.001;0.231;0.058;0.228;0.029;0.081	T	0.51810	-0.8658	10	0.21014	T	0.42	.	14.3697	0.66830	0.0:0.6687:0.0:0.3313	.	94;885;885;885;864;864	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	K	864;831;864;900;885;885;885;864;94	ENSP00000423799:N864K;ENSP00000421011:N831K;ENSP00000421067:N864K;ENSP00000424722:N900K;ENSP00000378044:N885K;ENSP00000349588:N885K;ENSP00000264366:N885K;ENSP00000426944:N94K	ENSP00000264366:N885K	N	+	3	2	ANK2	114451966	0.711000	0.27906	0.990000	0.47175	0.999000	0.98932	-0.123000	0.10611	-0.397000	0.07691	0.533000	0.62120	AAT		0.438	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114232517	T	A	114232517	3	1	73	1	0	0	0	0	1	0	0	0	621	1490	52	5	2774	5	ANK2	4	114232517	Missense_Mutation	SNP	T	TCGA-A4-8098-01A-11D-2396-08	104448320	114232517	76921759	24	4971											
TRPC3	7222	hgsc.bcm.edu	37	4	122825594	122825594	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:122825594A>C	ENST00000379645.3	-	8	2209	c.2136T>G	c.(2134-2136)gaT>gaG	p.D712E	TRPC3_ENST00000264811.5_Missense_Mutation_p.D639E|TRPC3_ENST00000513531.1_Missense_Mutation_p.D584E	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	627					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGAATTTGTGATCATATTTGA	0.308																																																0													89	86	87					4																	122825594		2203	4298	6501	SO:0001583	missense	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2136T>G	chr4.hg19:g.122825594A>C	ENSP00000368966:p.Asp712Glu		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	hg19	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.982982	0.53827	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.75938	-0.76;-0.98;-0.92	5.77	0.478	0.16789	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	L	0.35487	1.065	0.43187	D	0.995017	B;B;B	0.19935	0.002;0.018;0.04	B;B;B	0.30716	0.057;0.057;0.119	T	0.39121	-0.9629	10	0.10111	T	0.7	-24.2756	9.899	0.41335	0.7445:0.0:0.2555:0.0	.	627;584;712	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	E	639;712;584	ENSP00000264811:D639E;ENSP00000368966:D712E;ENSP00000426899:D584E	ENSP00000264811:D639E	D	-	3	2	TRPC3	123045044	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.041000	0.30291	-0.050000	0.13356	0.533000	0.62120	GAT		0.308	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		C	122825594	A	C	122825594	3	2	73	1	0	0	0	0	1	0	0	0	16584	330	12	5	649	5	TRPC3	4	122825594	Missense_Mutation	SNP	A	TCGA-A4-8098-01A-11D-2396-08	8593077	122825594	68328682	25	4972											
ADAM29	11086	hgsc.bcm.edu	37	4	175898831	175898832	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:175898831_175898832insA	ENST00000359240.3	+	5	2825_2826	c.2155_2156insA	c.(2155-2157)gaafs	p.E719fs	ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.E719fs|ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.E719fs|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.E719fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	719					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E719K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAAGAAGAGGAAAAAATTCAG	0.406																																					Ovarian(140;1727 1835 21805 25838 41440)											1	Substitution - Missense(1)	NS(1)																																								SO:0001589	frameshift_variant	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2161dupA	chr4.hg19:g.175898837_175898837dupA	ENSP00000352177:p.Glu719fs		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Frame_Shift_Ins	INS	ENST00000359240.3	hg19	CCDS3823.1																																																																																				0.406	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				A	175898832	-	A	175898831	7	5	73	1	0	1	1	0	0	0	0	0	247	1175	41	0	2157	0	ADAM29	4	175898831	Frame_Shift_Ins	INS	-	TCGA-A4-8098-01A-11D-2396-08	53073237	175898831	15255445	26	4973											
CENPH	64946	hgsc.bcm.edu	37	5	68505552	68505552	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:68505552delA	ENST00000283006.2	+	9	757	c.670delA	c.(670-672)aaafs	p.K224fs	CENPH_ENST00000515001.1_Frame_Shift_Del_p.K205fs	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		TTTGGGGAGTAAAGTCAATTG	0.289																																																0													78	78	78					5																	68505552		2203	4300	6503	SO:0001589	frameshift_variant	64946			AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.670delA	chr5.hg19:g.68505552delA	ENSP00000283006:p.Lys224fs			Frame_Shift_Del	DEL	ENST00000283006.2	hg19	CCDS3998.1																																																																																				0.289	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215083.1			-	68505552	A	-	68505552	7	5	73	1	0	1	0	1	0	0	0	0	3234	363	13	0	704	0	CENPH	5	68505552	Frame_Shift_Del	DEL	A	TCGA-A4-8098-01A-11D-2396-08		68505552	112409708	27	4974											
GFM2	84340	hgsc.bcm.edu	37	5	74026107	74026107	+	Silent	SNP	G	G	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:74026107G>T	ENST00000296805.3	-	17	2161	c.1704C>A	c.(1702-1704)atC>atA	p.I568I	GFM2_ENST00000509430.1_Silent_p.I568I|GFM2_ENST00000345239.2_Silent_p.I521I|GFM2_ENST00000515125.1_Intron	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CTGAGTTTAGGATGGTCTCTC	0.413																																																0													106	100	102					5																	74026107		2203	4300	6503	SO:0001819	synonymous_variant	84340			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1704C>A	chr5.hg19:g.74026107G>T				Silent	SNP	ENST00000296805.3	hg19	CCDS4023.1																																																																																				0.413	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		T	74026107	G	T	74026107	2	4	73	1	0	0	0	0	0	0	0	1	6344	1164	41	4		4	GFM2	5	74026107	Silent	SNP	G	TCGA-A4-8098-01A-11D-2396-08	5520555	74026107	106889153	28	4975											
POC5	134359	hgsc.bcm.edu	37	5	74981182	74981182	+	Silent	SNP	G	G	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:74981182G>C	ENST00000428202.2	-	10	1446	c.1257C>G	c.(1255-1257)tcC>tcG	p.S419S	POC5_ENST00000510798.1_Silent_p.S302S|POC5_ENST00000514838.2_Silent_p.S391S|POC5_ENST00000380475.2_Silent_p.S302S|POC5_ENST00000446329.2_Silent_p.S394S	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	419					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGCTGGTGGGGATGGCAGCA	0.557																																																0													100	118	112					5																	74981182		2058	4209	6267	SO:0001819	synonymous_variant	134359			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1257C>G	chr5.hg19:g.74981182G>C			B4DJG7|Q494X7|Q494X9|Q6P085	Silent	SNP	ENST00000428202.2	hg19	CCDS47236.1																																																																																				0.557	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		C	74981182	G	C	74981182	2	2	73	1	0	0	0	0	0	0	0	1	12179	1219	43	4		4	POC5	5	74981182	Silent	SNP	G	TCGA-A4-8098-01A-11D-2396-08	955075	74981182	105934078	29	4976											
MSH3	4437	hgsc.bcm.edu	37	5	80160742	80160743	+	Frame_Shift_Ins	INS	-	-	GAAA			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:80160742_80160743insGAAA	ENST00000265081.6	+	22	3191_3192	c.3111_3112insGAAA	c.(3112-3114)gaafs	p.-1038fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3						ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCAGTGAGGATGAAAGCAAACT	0.396								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)											0																																										SO:0001589	frameshift_variant	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.3112_3115dupGAAA	chr5.hg19:g.80160743_80160746dupGAAA	ENSP00000265081:p.Glu1038fs		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Ins	INS	ENST00000265081.6	hg19	CCDS34195.1																																																																																				0.396	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		GAAA	80160743	-	GAAA	80160742	7	5	73	1	0	1	1	0	0	0	0	0	9873	1461	51	0	3197	0	MSH3	5	80160742	Frame_Shift_Ins	INS	-	TCGA-A4-8098-01A-11D-2396-08	5179560	80160742	100754518	30	4977											
CHD1	1105	hgsc.bcm.edu	37	5	98195710	98195710	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:98195710T>C	ENST00000284049.3	-	32	4639	c.4490A>G	c.(4489-4491)tAt>tGt	p.Y1497C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1497					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGCATGCTTATATAATTTATG	0.274																																																0													37	42	40					5																	98195710		2193	4275	6468	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4490A>G	chr5.hg19:g.98195710T>C	ENSP00000284049:p.Tyr1497Cys		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	hg19	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048523	0.75846	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.97041	-4.22	5.09	5.09	0.68999	.	0.000000	0.31233	U	0.008011	D	0.98378	0.9461	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99620	1.0983	10	0.87932	D	0	.	15.1564	0.72746	0.0:0.0:0.0:1.0	.	1497	O14646	CHD1_HUMAN	C	87;1497	ENSP00000284049:Y1497C	ENSP00000284049:Y1497C	Y	-	2	0	CHD1	98223610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	2.036000	0.60181	0.533000	0.62120	TAT		0.274	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		C	98195710	T	C	98195710	3	2	73	1	0	0	0	0	1	0	0	0	3325	1406	49	3	658	3	CHD1	5	98195710	Missense_Mutation	SNP	T	TCGA-A4-8098-01A-11D-2396-08	18034968	98195710	82719550	31	4978											
PCDHGA3	56112	hgsc.bcm.edu	37	5	140724210	140724210	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:140724210A>T	ENST00000253812.6	+	1	610	c.610A>T	c.(610-612)Aaa>Taa	p.K204*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	204	Cadherin 2. {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(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCGTGAGAAAAAAGAAAT	0.537																																																0													48	51	50					5																	140724210		2151	4270	6421	SO:0001587	stop_gained	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.610A>T	chr5.hg19:g.140724210A>T	ENSP00000253812:p.Lys204*		Q9Y5D4	Nonsense_Mutation	SNP	ENST00000253812.6	hg19	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	16.89	3.246840	0.59103	.	.	ENSG00000254245	ENST00000253812	.	.	.	5.65	1.35	0.21983	.	0.498029	0.14302	U	0.328230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	5.4155	0.16372	0.3545:0.1525:0.4931:0.0	.	.	.	.	X	204	.	ENSP00000253812:K204X	K	+	1	0	PCDHGA3	140704394	0.000000	0.05858	0.941000	0.38009	0.356000	0.29392	0.140000	0.16056	0.282000	0.22254	0.533000	0.62120	AAA		0.537	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140724210	A	T	140724210	4	4	73	1	0	0	0	0	0	1	0	0	11557	247	9	5	612	5	PCDHGA3	5	140724210	Nonsense_Mutation	SNP	A	TCGA-A4-8098-01A-11D-2396-08	42528500	140724210	40191050	32	4979											
PCDH1	5097	hgsc.bcm.edu	37	5	141233788	141233788	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:141233788C>T	ENST00000287008.3	-	5	3680	c.3533G>A	c.(3532-3534)cGg>cAg	p.R1178Q	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTTGGTGTTCCGGTCTTCCGG	0.652																																					Ovarian(132;1609 1739 4190 14731 45037)											0													20	22	21					5																	141233788		2202	4299	6501	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3533G>A	chr5.hg19:g.141233788C>T	ENSP00000287008:p.Arg1178Gln		Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	hg19	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490764	0.44249	.	.	ENSG00000156453	ENST00000287008	T	0.53423	0.62	4.78	3.9	0.45041	.	1.032420	0.07798	U	0.956009	T	0.40886	0.1135	L	0.40543	1.245	0.80722	D	1	P	0.50443	0.935	B	0.38755	0.281	T	0.20472	-1.0274	10	0.41790	T	0.15	.	13.0535	0.58967	0.0:0.8367:0.1633:0.0	.	1178	Q08174-2	.	Q	1178	ENSP00000287008:R1178Q	ENSP00000287008:R1178Q	R	-	2	0	PCDH1	141213972	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.887000	0.48586	1.131000	0.42111	0.448000	0.29417	CGG		0.652	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		T	141233788	C	T	141233788	3	4	73	1	0	0	0	0	1	0	0	0	11508	652	23	1	184	1	PCDH1	5	141233788	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	509578	141233788	39681472	33	4980											
SLC26A8	116369	hgsc.bcm.edu	37	6	35923086	35923086	+	Frame_Shift_Del	DEL	T	T	-	rs200648238		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:35923086delT	ENST00000490799.1	-	17	2428	c.2075delA	c.(2074-2076)aacfs	p.N692fs	SLC26A8_ENST00000394602.2_Frame_Shift_Del_p.N587fs|SLC26A8_ENST00000355574.2_Frame_Shift_Del_p.N692fs	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGTGAGCTGTTTCTTGATGA	0.507																																																0													194	187	190					6																	35923086		2203	4300	6503	SO:0001589	frameshift_variant	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2075delA	chr6.hg19:g.35923086delT	ENSP00000417638:p.Asn692fs			Frame_Shift_Del	DEL	ENST00000490799.1	hg19	CCDS4813.1																																																																																				0.507	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			-	35923086	T	-	35923086	7	5	73	1	0	1	0	1	0	0	0	0	14529	1725	60	0	853	0	SLC26A8	6	35923086	Frame_Shift_Del	DEL	T	TCGA-A4-8098-01A-11D-2396-08		35923086	135191981	34	4981											
SLC22A7	10864	hgsc.bcm.edu	37	6	43266249	43266249	+	Silent	SNP	G	G	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:43266249G>A	ENST00000372585.5	+	1	248	c.153G>A	c.(151-153)ctG>ctA	p.L51L	SLC22A7_ENST00000372574.3_Silent_p.L51L|SLC22A7_ENST00000372589.3_Silent_p.L51L|SLC22A7_ENST00000487175.1_Intron	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	51					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GATGTGCCCTGCCGGGTGCCC	0.662																																																0													51	51	51					6																	43266249		2203	4300	6503	SO:0001819	synonymous_variant	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.153G>A	chr6.hg19:g.43266249G>A			B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Silent	SNP	ENST00000372585.5	hg19	CCDS4893.2																																																																																				0.662	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			A	43266249	G	A	43266249	2	1	73	1	0	0	0	0	0	0	0	1	14465	1306	46	2		2	SLC22A7	6	43266249	Silent	SNP	G	TCGA-A4-8098-01A-11D-2396-08	7343163	43266249	127848818	35	4982											
LRRC1	55227	hgsc.bcm.edu	37	6	53660212	53660212	+	Splice_Site	SNP	A	A	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:53660212A>T	ENST00000370888.1	+	1	435	c.158A>T	c.(157-159)gAg>gTg	p.E53V	RP13-476E20.1_ENST00000429053.1_RNA|LRRC1_ENST00000370882.1_Splice_Site_p.E53V	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	53						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAGCTGCCCGAGGTAAGGGTC	0.682																																																0													28	28	28					6																	53660212		2203	4300	6503	SO:0001630	splice_region_variant	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.159+1A>T	chr6.hg19:g.53660212A>T			Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	hg19	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737840	0.69304	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.58797	0.31;0.31	4.88	3.68	0.42216	.	0.264852	0.37623	N	0.002013	T	0.35008	0.0917	N	0.25380	0.74	0.39279	D	0.96452	B	0.32467	0.372	B	0.42319	0.383	T	0.38373	-0.9664	10	0.87932	D	0	.	9.613	0.39674	0.914:0.0:0.086:0.0	.	53	Q9BTT6	LRRC1_HUMAN	V	53	ENSP00000359925:E53V;ENSP00000359919:E53V	ENSP00000359919:E53V	E	+	2	0	LRRC1	53768171	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	8.227000	0.89787	0.660000	0.30964	0.460000	0.39030	GAG		0.682	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168	Missense_Mutation	T	53660212	A	T	53660212	5	4	73	1	0	0	0	0	0	0	1	0	8968	318	11	5	160	5	LRRC1	6	53660212	Splice_Site	SNP	A	TCGA-A4-8098-01A-11D-2396-08	10393963	53660212	117454855	36	4983											
CD109	135228	hgsc.bcm.edu	37	6	74407130	74407130	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:74407130T>C	ENST00000287097.5	+	2	194	c.82T>C	c.(82-84)Ttt>Ctt	p.F28L	CD109_ENST00000437994.2_Missense_Mutation_p.F28L|RP11-553A21.3_ENST00000428865.2_RNA|CD109_ENST00000422508.2_Missense_Mutation_p.F28L			Q6YHK3	CD109_HUMAN	CD109 molecule	28					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAGGCCTCGGTTTCTGGTGAC	0.507																																																0													103	101	102					6																	74407130		2203	4300	6503	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.82T>C	chr6.hg19:g.74407130T>C	ENSP00000287097:p.Phe28Leu		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	hg19	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192857	0.78902	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.35421	1.86;1.31;1.86	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000004	T	0.29850	0.0746	N	0.19112	0.55	0.23555	N	0.997424	D;D;D;D	0.69078	0.965;0.997;0.986;0.985	P;D;P;P	0.66716	0.63;0.946;0.84;0.873	T	0.19516	-1.0303	10	0.72032	D	0.01	.	12.8889	0.58058	0.0:0.0:0.0:1.0	.	28;28;28;28	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	L	28	ENSP00000388062:F28L;ENSP00000404475:F28L;ENSP00000287097:F28L	ENSP00000287097:F28L	F	+	1	0	CD109	74463851	0.998000	0.40836	0.964000	0.40570	0.607000	0.37147	4.263000	0.58853	2.243000	0.73865	0.533000	0.62120	TTT		0.507	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		C	74407130	T	C	74407130	3	2	73	1	0	0	0	0	1	0	0	0	2965	1725	60	3	88	3	CD109	6	74407130	Missense_Mutation	SNP	T	TCGA-A4-8098-01A-11D-2396-08	20746918	74407130	96707937	37	4984											
PHIP	55023	hgsc.bcm.edu	37	6	79724879	79724879	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:79724879G>A	ENST00000275034.4	-	15	1611	c.1444C>T	c.(1444-1446)Ctc>Ttc	p.L482F		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	482					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GCAGAAAAGAGAACTCTAGGA	0.358																																																0													101	94	96					6																	79724879		2203	4300	6503	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1444C>T	chr6.hg19:g.79724879G>A	ENSP00000275034:p.Leu482Phe		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	hg19	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033289	0.75504	.	.	ENSG00000146247	ENST00000275034	T	0.68479	-0.33	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.52532	D	0.000061	T	0.60586	0.2280	N	0.21194	0.64	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.61093	-0.7132	9	.	.	.	-5.5196	11.6141	0.51078	0.0821:0.0:0.9179:0.0	.	482;482	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	482	ENSP00000275034:L482F	.	L	-	1	0	PHIP	79781598	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.663000	0.54518	2.586000	0.87340	0.460000	0.39030	CTC		0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			A	79724879	G	A	79724879	3	1	73	1	0	0	0	0	1	0	0	0	11844	942	33	2	4125	2	PHIP	6	79724879	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	5317749	79724879	91390188	38	4985											
KIAA0776	23376	hgsc.bcm.edu	37	6	96996102	96996102	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:96996102delC	ENST00000369278.4	+	13	1531	c.1465delC	c.(1465-1467)cacfs	p.H489fs		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	489					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										TTTAAGAAAACACATACAAGA	0.308																																																0													57	59	58					6																	96996102		2202	4300	6502	SO:0001589	frameshift_variant	23376			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1465delC	chr6.hg19:g.96996102delC	ENSP00000358283:p.His489fs		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Frame_Shift_Del	DEL	ENST00000369278.4	hg19	CCDS5034.1																																																																																				0.308	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		-	96996102	C	-	96996102	7	5	73	1	0	1	0	1	0	0	0	0	8195	478	17	0	1515	0	KIAA0776	6	96996102	Frame_Shift_Del	DEL	C	TCGA-A4-8098-01A-11D-2396-08	17271223	96996102	74118965	39	4986											
GPNMB	10457	hgsc.bcm.edu	37	7	23306207	23306207	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr7:23306207C>A	ENST00000381990.2	+	7	1287	c.1126C>A	c.(1126-1128)Cac>Aac	p.H376N	GPNMB_ENST00000453162.2_Missense_Mutation_p.H318N|GPNMB_ENST00000258733.4_Missense_Mutation_p.H364N|GPNMB_ENST00000539136.1_Missense_Mutation_p.H265N	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	376					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAGATATGGCCACTTTCAAGC	0.478																																																0													82	71	75					7																	23306207		2203	4300	6503	SO:0001583	missense	10457			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1126C>A	chr7.hg19:g.23306207C>A	ENSP00000371420:p.His376Asn		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	hg19	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	6.226	0.409829	0.11812	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.13657	2.58;2.58;2.57;2.58	5.89	-0.668	0.11392	PKD/Chitinase domain (1);	0.606085	0.16307	N	0.220182	T	0.12518	0.0304	L	0.47716	1.5	0.09310	N	0.999998	D;P;P;P	0.53745	0.962;0.82;0.913;0.744	B;B;B;B	0.43990	0.438;0.351;0.345;0.275	T	0.29212	-1.0019	10	0.22706	T	0.39	-12.8359	11.5467	0.50698	0.0:0.5539:0.0:0.4461	.	265;318;376;364	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	N	364;411;376;259;265;318	ENSP00000258733:H364N;ENSP00000371420:H376N;ENSP00000445266:H265N;ENSP00000405586:H318N	ENSP00000258733:H364N	H	+	1	0	GPNMB	23272732	0.759000	0.28416	0.042000	0.18584	0.021000	0.10359	1.106000	0.31098	-0.061000	0.13110	-0.781000	0.03364	CAC		0.478	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		A	23306207	C	A	23306207	3	1	73	1	0	0	0	0	1	0	0	0	6622	594	21	4	1152	4	GPNMB	7	23306207	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08		23306207	135832456	40	4987											
GLI3	2737	hgsc.bcm.edu	37	7	42063171	42063171	+	Missense_Mutation	SNP	C	C	T	rs35488756	byFrequency	TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr7:42063171C>T	ENST00000395925.3	-	10	1477	c.1393G>A	c.(1393-1395)Ggg>Agg	p.G465R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	465					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTTTGTCCCCTTCCTCCTTG	0.542									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							0													152	118	129					7																	42063171		2203	4300	6503	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1393G>A	chr7.hg19:g.42063171C>T	ENSP00000379258:p.Gly465Arg		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	hg19	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727028	0.69074	.	.	ENSG00000106571	ENST00000395925	T	0.69306	-0.39	5.81	5.81	0.92471	.	0.043845	0.85682	D	0.000000	T	0.66713	0.2817	L	0.57536	1.79	0.80722	D	1	B	0.16396	0.017	B	0.14023	0.01	T	0.60762	-0.7199	10	0.42905	T	0.14	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	465	P10071	GLI3_HUMAN	R	465	ENSP00000379258:G465R	ENSP00000379258:G465R	G	-	1	0	GLI3	42029696	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.975000	0.70475	2.746000	0.94184	0.591000	0.81541	GGG		0.542	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		T	42063171	C	T	42063171	3	4	73	1	0	0	0	0	1	0	0	0	6441	681	24	2	3373	2	GLI3	7	42063171	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	18756964	42063171	117075492	41	4988											
PTPRZ1	5803	hgsc.bcm.edu	37	7	121651018	121651018	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr7:121651018G>C	ENST00000393386.2	+	12	2329	c.1918G>C	c.(1918-1920)Gaa>Caa	p.E640Q	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E640Q	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	640					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATCAGGTTCAGAAGAATCACT	0.418																																																0													60	58	59					7																	121651018		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1918G>C	chr7.hg19:g.121651018G>C	ENSP00000377047:p.Glu640Gln		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952906	0.34471	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.50548	0.8;0.74	5.87	5.87	0.94306	.	0.470308	0.21679	N	0.070741	T	0.61274	0.2334	M	0.67953	2.075	0.27751	N	0.944151	P;P;D	0.63880	0.779;0.671;0.993	B;B;P	0.55713	0.277;0.143;0.782	T	0.60182	-0.7313	10	0.59425	D	0.04	.	14.976	0.71273	0.0:0.0:0.8573:0.1427	.	640;640;640	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	Q	640	ENSP00000377047:E640Q;ENSP00000410000:E640Q	ENSP00000377047:E640Q	E	+	1	0	PTPRZ1	121438254	0.993000	0.37304	0.945000	0.38365	0.967000	0.64934	3.265000	0.51561	2.778000	0.95560	0.655000	0.94253	GAA		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		C	121651018	G	C	121651018	3	2	73	1	0	0	0	0	1	0	0	0	12820	943	33	4	1964	4	PTPRZ1	7	121651018	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	79587847	121651018	37487645	42	4989											
NCOA2	10499	hgsc.bcm.edu	37	8	71039066	71039067	+	Frame_Shift_Ins	INS	-	-	AAAC			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr8:71039066_71039067insAAAC	ENST00000452400.2	-	19	4078_4079	c.3897_3898insGTTT	c.(3895-3900)tttccafs	p.P1300fs	NCOA2_ENST00000267974.4_Frame_Shift_Ins_p.P388fs	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1300					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGAGGAAATGGAAACTGCTGTG	0.53			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0																																										SO:0001589	frameshift_variant	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3894_3897dupGTTT	chr8.hg19:g.71039067_71039070dupAAAC	ENSP00000399968:p.Pro1300fs		Q14CD2	Frame_Shift_Ins	INS	ENST00000452400.2	hg19	CCDS47872.1																																																																																				0.53	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			AAAC	71039067	-	AAAC	71039066	7	5	73	1	0	1	1	0	0	0	0	0	10231	1174	41	0	516	0	NCOA2	8	71039066	Frame_Shift_Ins	INS	-	TCGA-A4-8098-01A-11D-2396-08		71039066	75324956	43	4990											
EPPK1	83481	hgsc.bcm.edu	37	8	144942527	144942527	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr8:144942527C>G	ENST00000525985.1	-	2	4966	c.4895G>C	c.(4894-4896)gGa>gCa	p.G1632A				P58107	EPIPL_HUMAN	epiplakin 1	1632						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGAACATTCCTGCTTTGAA	0.627																																																0													74	83	80					8																	144942527		2037	4184	6221	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4895G>C	chr8.hg19:g.144942527C>G	ENSP00000436337:p.Gly1632Ala		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.25	2.180920	0.38511	.	.	ENSG00000227184	ENST00000525985	D	0.85411	-1.98	4.41	4.41	0.53225	.	.	.	.	.	D	0.93798	0.8017	M	0.92317	3.295	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	D	0.87143	0.2204	9	0.72032	D	0.01	.	14.5607	0.68133	0.0:1.0:0.0:0.0	.	1632	E9PPU0	.	A	1632	ENSP00000436337:G1632A	ENSP00000436337:G1632A	G	-	2	0	EPPK1	145014515	0.004000	0.15560	0.114000	0.21550	0.403000	0.30841	1.625000	0.37029	2.280000	0.76307	0.591000	0.81541	GGA		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		G	144942527	C	G	144942527	3	3	73	1	0	0	0	0	1	0	0	0	5192	855	30	4	2371	4	EPPK1	8	144942527	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	73903461	144942527	1421495	44	4991											
CEP110	11064	hgsc.bcm.edu	37	9	123900898	123900898	+	Missense_Mutation	SNP	T	T	G	rs566495778		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr9:123900898T>G	ENST00000373855.1	+	16	2538	c.2278T>G	c.(2278-2280)Ttc>Gtc	p.F760V	CNTRL_ENST00000373850.1_Missense_Mutation_p.F208V|CNTRL_ENST00000238341.5_Missense_Mutation_p.F760V|CNTRL_ENST00000373847.1_Missense_Mutation_p.F208V			Q7Z7A1	CNTRL_HUMAN	centriolin	760					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAAAGCCCAGTTCTCAGAAGA	0.418																																																0													97	98	98					9																	123900898		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2278T>G	chr9.hg19:g.123900898T>G	ENSP00000362962:p.Phe760Val		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	hg19	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.248769	0.39797	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.76	2.4	0.29515	.	.	.	.	.	T	0.24236	0.0587	N	0.14661	0.345	0.23731	N	0.996993	B;B;B	0.24483	0.049;0.082;0.104	B;B;B	0.21708	0.016;0.036;0.024	T	0.20338	-1.0278	9	0.27082	T	0.32	.	8.6368	0.33953	0.0:0.3003:0.0:0.6997	.	760;760;760	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	V	760;760;760;242;208;208	ENSP00000362962:F760V;ENSP00000238341:F760V;ENSP00000362956:F208V;ENSP00000362953:F208V	ENSP00000238341:F760V	F	+	1	0	CNTRL	122940719	0.982000	0.34865	0.996000	0.52242	0.970000	0.65996	0.049000	0.14099	0.269000	0.21961	0.533000	0.62120	TTC		0.418	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		G	123900898	T	G	123900898	3	3	73	1	0	0	0	0	1	0	0	0	3247	1725	60	5	2332	5	CEP110	9	123900898	Missense_Mutation	SNP	T	TCGA-A4-8098-01A-11D-2396-08		123900898	17312533	45	4992											
ADAMTS13	11093	hgsc.bcm.edu	37	9	136305499	136305499	+	Silent	SNP	G	G	T	rs371209152		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr9:136305499G>T	ENST00000371929.3	+	16	2265	c.1821G>T	c.(1819-1821)ggG>ggT	p.G607G	ADAMTS13_ENST00000536611.1_Silent_p.G279G|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.G576G|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.G607G	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	607	Spacer.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCGTGGCTGGGAAGATGAGCA	0.642																																																0													138	98	111					9																	136305499		2203	4300	6503	SO:0001819	synonymous_variant	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1821G>T	chr9.hg19:g.136305499G>T			Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	hg19	CCDS6970.1																																																																																				0.642	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		T	136305499	G	T	136305499	2	4	73	1	0	0	0	0	0	0	0	1	258	1161	41	4		4	ADAMTS13	9	136305499	Silent	SNP	G	TCGA-A4-8098-01A-11D-2396-08	12404601	136305499	4907932	46	4993											
C10orf18	54906	hgsc.bcm.edu	37	10	5790239	5790239	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:5790239delT	ENST00000328090.5	+	15	5480	c.4855delT	c.(4855-4857)tttfs	p.F1619fs		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1619																	GAACCATCTCTTTCCCGGTGA	0.453																																																0													65	65	65					10																	5790239		1964	4151	6115	SO:0001589	frameshift_variant	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4855delT	chr10.hg19:g.5790239delT	ENSP00000328426:p.Phe1619fs		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Frame_Shift_Del	DEL	ENST00000328090.5	hg19	CCDS41485.1																																																																																				0.453	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		-	5790239	T	-	5790239	7	5	73	1	0	1	0	1	0	0	0	0	1598	1609	56	0	4901	0	C10orf18	10	5790239	Frame_Shift_Del	DEL	T	TCGA-A4-8098-01A-11D-2396-08		5790239	129744508	47	4994											
SLC18A3	6572	hgsc.bcm.edu	37	10	50819621	50819621	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:50819621G>C	ENST00000374115.3	+	1	1275	c.835G>C	c.(835-837)Ggc>Cgc	p.G279R	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	279					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCTGCCAGTGGGCACTCCCAT	0.647																																																0													45	42	43					10																	50819621		2202	4300	6502	SO:0001583	missense	6572			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.835G>C	chr10.hg19:g.50819621G>C	ENSP00000363229:p.Gly279Arg		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	hg19	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749750	0.89753	.	.	ENSG00000187714	ENST00000374115	T	0.80393	-1.37	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.91408	0.7289	M	0.86420	2.815	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.92566	0.6062	10	0.87932	D	0	0.7852	19.2158	0.93778	0.0:0.0:1.0:0.0	.	279	Q16572	VACHT_HUMAN	R	279	ENSP00000363229:G279R	ENSP00000363229:G279R	G	+	1	0	SLC18A3	50489627	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.824000	0.99380	2.552000	0.86080	0.561000	0.74099	GGC		0.647	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		C	50819621	G	C	50819621	3	2	73	1	0	0	0	0	1	0	0	0	14433	1232	43	4	837	4	SLC18A3	10	50819621	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	45029382	50819621	84715126	48	4995											
TET1	80312	hgsc.bcm.edu	37	10	70450862	70450862	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:70450862T>G	ENST00000373644.4	+	12	5911	c.5702T>G	c.(5701-5703)aTt>aGt	p.I1901S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1901					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGCCCTGGCATTTCACAGCTT	0.572																																																0													70	66	67					10																	70450862		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5702T>G	chr10.hg19:g.70450862T>G	ENSP00000362748:p.Ile1901Ser		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	T	9.058	0.993658	0.19043	.	.	ENSG00000138336	ENST00000373644	T	0.06849	3.25	5.34	2.89	0.33648	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	5.533840	0.00166	N	0.000001	T	0.11024	0.0269	L	0.41710	1.295	0.09310	N	1	P	0.38729	0.644	B	0.40329	0.326	T	0.22382	-1.0218	10	0.49607	T	0.09	.	5.5383	0.17023	0.0:0.152:0.1458:0.7022	.	1901	Q8NFU7	TET1_HUMAN	S	1901	ENSP00000362748:I1901S	ENSP00000362748:I1901S	I	+	2	0	TET1	70120868	0.002000	0.14202	0.006000	0.13384	0.050000	0.14768	0.124000	0.15728	0.300000	0.22699	0.533000	0.62120	ATT		0.572	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70450862	T	G	70450862	3	3	73	1	0	0	0	0	1	0	0	0	15774	1493	52	5	5744	5	TET1	10	70450862	Missense_Mutation	SNP	T	TCGA-A4-8098-01A-11D-2396-08	19631241	70450862	65083885	49	4996											
H2AFY2	55506	hgsc.bcm.edu	37	10	71868875	71868875	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:71868875C>A	ENST00000373255.4	+	8	1129	c.865C>A	c.(865-867)Cag>Aag	p.Q289K	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	289	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						ATGTGAAGAACAGCTTGAAGA	0.557																																																0													89	82	84					10																	71868875		2203	4300	6503	SO:0001583	missense	55506			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"Histones / Replication-independent"	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.865C>A	chr10.hg19:g.71868875C>A	ENSP00000362352:p.Gln289Lys		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	hg19	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119095	0.77323	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;T	0.21031	2.03;2.03	6.03	6.03	0.97812	Appr-1-p processing (2);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	N	0.17723	0.515	0.80722	D	1	P	0.43231	0.801	B	0.38842	0.283	T	0.02553	-1.1142	10	0.25751	T	0.34	.	20.177	0.98182	0.0:1.0:0.0:0.0	.	289	Q9P0M6	H2AW_HUMAN	K	289;223;223	ENSP00000362352:Q289K;ENSP00000404584:Q223K	ENSP00000362352:Q289K	Q	+	1	0	H2AFY2	71538881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.830000	0.62745	2.854000	0.98071	0.655000	0.94253	CAG		0.557	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		A	71868875	C	A	71868875	3	1	73	1	0	0	0	0	1	0	0	0	6932	479	17	4	891	4	H2AFY2	10	71868875	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	1418013	71868875	63665872	50	4997											
TRIM8	81603	hgsc.bcm.edu	37	10	104415049	104415049	+	Silent	SNP	G	G	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:104415049G>A	ENST00000302424.7	+	3	1001	c.879G>A	c.(877-879)acG>acA	p.T293T	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	293					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TTGATAAGACGGAGGATGTCA	0.597																																																0													31	34	33					10																	104415049		2202	4300	6502	SO:0001819	synonymous_variant	81603			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.879G>A	chr10.hg19:g.104415049G>A			A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	hg19	CCDS31274.1																																																																																				0.597	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		A	104415049	G	A	104415049	2	1	73	1	0	0	0	0	0	0	0	1	16553	1103	39	1		1	TRIM8	10	104415049	Silent	SNP	G	TCGA-A4-8098-01A-11D-2396-08	32546174	104415049	31119698	51	4998											
NRAP	4892	hgsc.bcm.edu	37	10	115372127	115372127	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:115372127C>G	ENST00000359988.3	-	30	3608	c.3364G>C	c.(3364-3366)Gcc>Ccc	p.A1122P	NRAP_ENST00000369358.4_Missense_Mutation_p.A1130P|NRAP_ENST00000360478.3_Missense_Mutation_p.A1087P|NRAP_ENST00000369360.3_Missense_Mutation_p.A1095P	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.A1122T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCACCAGGGCGGCCATGTCC	0.532																																																1	Substitution - Missense(1)	large_intestine(1)											106	93	97					10																	115372127		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3364G>C	chr10.hg19:g.115372127C>G	ENSP00000353078:p.Ala1122Pro			Missense_Mutation	SNP	ENST00000359988.3	hg19	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467717	0.26335	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.62	4.42	0.53409	.	0.222981	0.47852	D	0.000215	T	0.18923	0.0454	L	0.27053	0.805	0.19775	N	0.999954	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.16335	-1.0406	10	0.30078	T	0.28	.	6.6353	0.22879	0.0:0.0846:0.2726:0.6428	.	1122;1087;1122	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	P	1130;1095;1122;1087	ENSP00000358365:A1130P;ENSP00000358367:A1095P;ENSP00000353078:A1122P;ENSP00000353666:A1087P	ENSP00000353078:A1122P	A	-	1	0	NRAP	115362117	0.827000	0.29292	0.788000	0.31933	0.559000	0.35586	1.269000	0.33074	0.978000	0.38470	-0.345000	0.07892	GCC		0.532	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		G	115372127	C	G	115372127	3	3	73	1	0	0	0	0	1	0	0	0	10640	768	27	4	1880	4	NRAP	10	115372127	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	10957078	115372127	20162620	52	4999											
UEVLD	55293	hgsc.bcm.edu	37	11	18568448	18568448	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:18568448delG	ENST00000396197.3	-	8	893	c.865delC	c.(865-867)ctgfs	p.L290fs	UEVLD_ENST00000543987.1_Frame_Shift_Del_p.L290fs|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000535484.1_Frame_Shift_Del_p.L252fs|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_Frame_Shift_Del_p.L268fs|UEVLD_ENST00000320750.6_Frame_Shift_Del_p.L268fs	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCAACGAGCAGGACACTGTGT	0.403																																																0													142	133	136					11																	18568448		2199	4293	6492	SO:0001589	frameshift_variant	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.865delC	chr11.hg19:g.18568448delG	ENSP00000379500:p.Leu290fs			Frame_Shift_Del	DEL	ENST00000396197.3	hg19	CCDS41624.1																																																																																				0.403	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314		-	18568448	G	-	18568448	7	5	73	1	0	1	0	1	0	0	0	0	16938	991	35	0	570	0	UEVLD	11	18568448	Frame_Shift_Del	DEL	G	TCGA-A4-8098-01A-11D-2396-08		18568448	116438068	53	5000											
NELL1	4745	hgsc.bcm.edu	37	11	21594920	21594920	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:21594920A>T	ENST00000357134.5	+	19	2499	c.2347A>T	c.(2347-2349)Atg>Ttg	p.M783L	NELL1_ENST00000298925.5_Missense_Mutation_p.M811L|NELL1_ENST00000532434.1_Missense_Mutation_p.M736L|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.M726L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	783					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGTGTGGACGATGGCTGGATC	0.488																																																0													165	145	152					11																	21594920		2203	4300	6503	SO:0001583	missense	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2347A>T	chr11.hg19:g.21594920A>T	ENSP00000349654:p.Met783Leu		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	hg19	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	A	5.365	0.252558	0.10185	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.78481	-1.18;-1.15;-1.07;-1.06	5.73	4.59	0.56863	.	0.047962	0.85682	N	0.000000	T	0.66655	0.2811	L	0.46157	1.445	0.34190	D	0.671993	P;B;B;B;P	0.37370	0.592;0.0;0.001;0.001;0.457	B;B;B;B;B	0.33254	0.16;0.0;0.002;0.007;0.077	T	0.68561	-0.5376	10	0.10636	T	0.68	-16.3644	12.2052	0.54348	0.872:0.0:0.0:0.1279	.	726;811;328;736;783	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	L	811;783;726;736	ENSP00000298925:M811L;ENSP00000349654:M783L;ENSP00000317837:M726L;ENSP00000437170:M736L	ENSP00000298925:M811L	M	+	1	0	NELL1	21551496	1.000000	0.71417	0.995000	0.50966	0.203000	0.24098	5.967000	0.70403	0.983000	0.38602	0.454000	0.30748	ATG		0.488	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		T	21594920	A	T	21594920	3	4	73	1	0	0	0	0	1	0	0	0	10335	333	12	5	2421	5	NELL1	11	21594920	Missense_Mutation	SNP	A	TCGA-A4-8098-01A-11D-2396-08	3026472	21594920	113411596	54	5001											
LGR4	55366	hgsc.bcm.edu	37	11	27412675	27412676	+	In_Frame_Ins	INS	-	-	AAG			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:27412675_27412676insAAG	ENST00000379214.4	-	4	809_810	c.366_367insCTT	c.(364-369)agtgaa>agtCTTgaa	p.122_123SE>SLE	LGR4_ENST00000480977.2_Intron|LGR4_ENST00000389858.4_In_Frame_Ins_p.98_99SE>SLE	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	122					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CGAATGGCTTCACTGGGTACTG	0.366																																																0																																										SO:0001652	inframe_insertion	55366			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.366_367insCTT	chr11.hg19:g.27412675_27412676insAAG	ENSP00000368516:p.Ser122_Glu123insLeu		A6NCH3|G5E9B3|Q8N537|Q9NYD1	In_Frame_Ins	INS	ENST00000379214.4	hg19	CCDS31449.1																																																																																				0.366	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		AAG	27412676	-	AAG	27412675	7	5	73	1	0	1	1	0	0	0	0	0	8758	835	29	0	2548	0	LGR4	11	27412675	In_Frame_Ins	INS	-	TCGA-A4-8098-01A-11D-2396-08	5817755	27412675	107593841	55	5002											
IMMP1L	196294	hgsc.bcm.edu	37	11	31482191	31482191	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:31482191T>C	ENST00000278200.1	-	4	371	c.176A>G	c.(175-177)cAt>cGt	p.H59R	IMMP1L_ENST00000532287.1_Missense_Mutation_p.H59R|IMMP1L_ENST00000526776.1_Intron|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000533642.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	59					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					ACCATAAAAATGTCGACTAAG	0.318																																																0													67	69	68					11																	31482191		2202	4295	6497	SO:0001583	missense	196294				CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.176A>G	chr11.hg19:g.31482191T>C	ENSP00000278200:p.His59Arg		D3DQZ7|Q96SH9	Missense_Mutation	SNP	ENST00000278200.1	hg19	CCDS7874.1	.	.	.	.	.	.	.	.	.	.	T	8.728	0.915998	0.17907	.	.	ENSG00000148950	ENST00000532287;ENST00000278200;ENST00000529749;ENST00000530023	.	.	.	5.58	5.58	0.84498	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S24/S26A/S26B (1);	0.046287	0.85682	D	0.000000	T	0.32102	0.0818	N	0.02403	-0.565	0.80722	D	1	P;B	0.38300	0.626;0.0	P;B	0.45232	0.474;0.006	T	0.36187	-0.9758	9	0.02654	T	1	-14.2458	16.0334	0.80603	0.0:0.0:0.0:1.0	.	59;59	E9PIG6;Q96LU5	.;IMP1L_HUMAN	R	59	.	ENSP00000278200:H59R	H	-	2	0	IMMP1L	31438767	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.245000	0.65405	2.243000	0.73865	0.533000	0.62120	CAT		0.318	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	NM_144981		C	31482191	T	C	31482191	3	2	73	1	0	0	0	0	1	0	0	0	7718	1464	51	3	340	3	IMMP1L	11	31482191	Missense_Mutation	SNP	T	TCGA-A4-8098-01A-11D-2396-08	4069516	31482191	103524325	56	5003											
CCDC73	493860	hgsc.bcm.edu	37	11	32676507	32676507	+	Silent	SNP	T	T	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:32676507T>C	ENST00000335185.5	-	10	700	c.657A>G	c.(655-657)aaA>aaG	p.K219K	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	219										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTGAGGCTGCTTTTTTTAGTT	0.303																																																0													80	67	71					11																	32676507		1809	4051	5860	SO:0001819	synonymous_variant	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.657A>G	chr11.hg19:g.32676507T>C			Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	hg19	CCDS41630.1																																																																																				0.303	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		C	32676507	T	C	32676507	2	2	73	1	0	0	0	0	0	0	0	1	2848	1606	56	3		3	CCDC73	11	32676507	Silent	SNP	T	TCGA-A4-8098-01A-11D-2396-08	1194316	32676507	102330009	57	5004											
PRR5L	79899	hgsc.bcm.edu	37	11	36472765	36472765	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:36472765C>T	ENST00000378867.3	+	9	947	c.592C>T	c.(592-594)Cac>Tac	p.H198Y	PRR5L_ENST00000311599.5_Missense_Mutation_p.H125Y|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.H198Y|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	198					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)	p.H198Y(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCAGAGTGTTCACGAGCCCAC	0.502																																																1	Substitution - Missense(1)	cervix(1)											170	157	162					11																	36472765		2202	4298	6500	SO:0001583	missense	79899				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.592C>T	chr11.hg19:g.36472765C>T	ENSP00000368144:p.His198Tyr		A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	hg19	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049026	0.75846	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.36157	1.27;1.5;1.27	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.80982	2.52	0.58432	D	0.999995	D;D	0.71674	0.989;0.998	D;D	0.77557	0.979;0.99	T	0.69815	-0.5043	10	0.87932	D	0	-17.9831	17.9793	0.89136	0.0:1.0:0.0:0.0	.	70;198	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	Y	198;125;198	ENSP00000435050:H198Y;ENSP00000310103:H125Y;ENSP00000368144:H198Y	ENSP00000310103:H125Y	H	+	1	0	PRR5L	36429341	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.758000	0.68776	2.345000	0.79718	0.313000	0.20887	CAC		0.502	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		T	36472765	C	T	36472765	3	4	73	1	0	0	0	0	1	0	0	0	12607	826	29	2	624	2	PRR5L	11	36472765	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	3796258	36472765	98533751	58	5005											
C11orf67	28971	hgsc.bcm.edu	37	11	77580812	77580812	+	Silent	SNP	G	G	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:77580812G>A	ENST00000526415.1	+	4	350	c.177G>A	c.(175-177)gaG>gaA	p.E59E	AAMDC_ENST00000532481.1_Silent_p.E59E|AAMDC_ENST00000304716.8_Silent_p.E59E|RP11-91P24.6_ENST00000530972.1_RNA|AAMDC_ENST00000393427.2_Silent_p.E59E|AAMDC_ENST00000533193.1_Silent_p.E105E|AAMDC_ENST00000527134.1_Silent_p.E59E|AAMDC_ENST00000525409.1_Intron|AAMDC_ENST00000525034.1_Silent_p.E78E|RP11-91P24.7_ENST00000525594.1_RNA			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	59	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											AAGTTGTTGAGAAGGGTGTAC	0.493																																																0													349	322	331					11																	77580812		2200	4292	6492	SO:0001819	synonymous_variant	28971			BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 67"	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.177G>A	chr11.hg19:g.77580812G>A			Q96AQ4|Q9Y6B1	Silent	SNP	ENST00000526415.1	hg19	CCDS8254.1																																																																																				0.493	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390976.1	NM_024684		A	77580812	G	A	77580812	2	1	73	1	0	0	0	0	0	0	0	1	1659	933	33	2		2	C11orf67	11	77580812	Silent	SNP	G	TCGA-A4-8098-01A-11D-2396-08	41108047	77580812	57425704	59	5006											
PCF11	51585	hgsc.bcm.edu	37	11	82877724	82877724	+	Silent	SNP	A	A	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:82877724A>G	ENST00000298281.4	+	5	2237	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	595					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AGTCTGCCAAAAGATGGAAAT	0.348																																																0													73	75	74					11																	82877724		1755	3856	5611	SO:0001819	synonymous_variant	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1785A>G	chr11.hg19:g.82877724A>G			A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	hg19	CCDS44689.1																																																																																				0.348	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82877724	A	G	82877724	2	3	73	1	0	0	0	0	0	0	0	1	11575	11	1	3		3	PCF11	11	82877724	Silent	SNP	A	TCGA-A4-8098-01A-11D-2396-08	5296912	82877724	52128792	60	5007											
ARHGAP32	9743	hgsc.bcm.edu	37	11	128840894	128840894	+	Missense_Mutation	SNP	C	C	T	rs530219324		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:128840894C>T	ENST00000310343.9	-	22	4171	c.4172G>A	c.(4171-4173)cGg>cAg	p.R1391Q	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1042Q|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1042Q|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1391	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAGCGGGACCCGGGCACCGTC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17039	0.0		0.001	False		,,,				2504	0.0															0													45	47	47					11																	128840894		2201	4297	6498	SO:0001583	missense	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4172G>A	chr11.hg19:g.128840894C>T	ENSP00000310561:p.Arg1391Gln		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	hg19	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168938	0.78339	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.11712	2.77;2.75;2.75	5.71	5.71	0.89125	.	0.112572	0.56097	D	0.000024	T	0.19805	0.0476	M	0.69823	2.125	0.32214	N	0.576128	D	0.58620	0.983	P	0.44422	0.449	T	0.09207	-1.0685	10	0.37606	T	0.19	.	19.8599	0.96779	0.0:1.0:0.0:0.0	.	1391	A7KAX9	RHG32_HUMAN	Q	1391;1042;1042	ENSP00000310561:R1391Q;ENSP00000376425:R1042Q;ENSP00000432862:R1042Q	ENSP00000310561:R1391Q	R	-	2	0	ARHGAP32	128346104	0.998000	0.40836	0.932000	0.37286	0.291000	0.27294	3.773000	0.55333	2.710000	0.92621	0.655000	0.94253	CGG		0.632	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		T	128840894	C	T	128840894	3	4	73	1	0	0	0	0	1	0	0	0	881	652	23	1	2095	1	ARHGAP32	11	128840894	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	45963170	128840894	6165622	61	5008											
AKAP3	10566	hgsc.bcm.edu	37	12	4737430	4737430	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr12:4737430T>G	ENST00000545990.2	-	5	1162	c.638A>C	c.(637-639)aAa>aCa	p.K213T	AKAP3_ENST00000228850.1_Missense_Mutation_p.K213T|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	213					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGACTTGTATTTCAAATTTGG	0.468																																																0													99	99	99					12																	4737430		2203	4300	6503	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.638A>C	chr12.hg19:g.4737430T>G	ENSP00000440994:p.Lys213Thr		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	hg19	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.224438	0.39300	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.09255	3.0;3.0	4.87	1.27	0.21489	A-kinase anchor 110kDa, C-terminal (1);	0.332965	0.25968	N	0.027150	T	0.20861	0.0502	M	0.63428	1.95	0.09310	N	1	D	0.63046	0.992	P	0.60415	0.874	T	0.03651	-1.1016	10	0.87932	D	0	-14.2358	6.9349	0.24461	0.0:0.2845:0.0:0.7155	.	213	O75969	AKAP3_HUMAN	T	213	ENSP00000228850:K213T;ENSP00000440994:K213T	ENSP00000228850:K213T	K	-	2	0	AKAP3	4607691	0.949000	0.32298	0.109000	0.21407	0.693000	0.40251	1.094000	0.30951	0.121000	0.18284	0.528000	0.53228	AAA		0.468	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		G	4737430	T	G	4737430	3	3	73	1	0	0	0	0	1	0	0	0	452	1841	64	5	1931	5	AKAP3	12	4737430	Missense_Mutation	SNP	T	TCGA-A4-8098-01A-11D-2396-08		4737430	129114465	62	5009											
GTSF1	121355	hgsc.bcm.edu	37	12	54856511	54856511	+	Splice_Site	SNP	T	T	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr12:54856511T>A	ENST00000552397.1	-	5	1141		c.e5-2		RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_Splice_Site|GTSF1_ENST00000305879.5_Splice_Site|RP11-753H16.5_ENST00000552785.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1							cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TTTGGTTGACTGCAAGACAAT	0.483																																																0													92	91	92					12																	54856511		2203	4300	6503	SO:0001630	splice_region_variant	121355			AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"family with sequence similarity 112, member B"	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.245-2A>T	chr12.hg19:g.54856511T>A			B3KQ60|Q0VGM4|Q8N778	Splice_Site	SNP	ENST00000552397.1	hg19	CCDS8881.1	.	.	.	.	.	.	.	.	.	.	T	9.953	1.220561	0.22457	.	.	ENSG00000170627	ENST00000552397;ENST00000305879	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3935	0.55373	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GTSF1	53142778	1.000000	0.71417	0.971000	0.41717	0.231000	0.25187	4.551000	0.60740	2.183000	0.69458	0.533000	0.62120	.		0.483	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	NM_144594	Intron	A	54856511	T	A	54856511	5	1	73	1	0	0	0	0	0	0	1	0	6888	1594	55	5	276	5	GTSF1	12	54856511	Splice_Site	SNP	T	TCGA-A4-8098-01A-11D-2396-08	50119081	54856511	78995384	63	5010											
WIF1	11197	hgsc.bcm.edu	37	12	65460514	65460514	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr12:65460514G>T	ENST00000286574.4	-	6	1011	c.637C>A	c.(637-639)Ctt>Att	p.L213I		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	213	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GGGGTACAAAGGGCTTATAGG	0.433			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0													75	72	73					12																	65460514		2203	4300	6503	SO:0001583	missense	11197			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.637C>A	chr12.hg19:g.65460514G>T	ENSP00000286574:p.Leu213Ile		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	hg19	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572822	0.45798	.	.	ENSG00000156076	ENST00000286574	T	0.03035	4.07	5.23	4.34	0.51931	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.068823	0.64402	D	0.000016	T	0.02455	0.0075	N	0.05306	-0.075	0.53688	D	0.999978	B	0.19935	0.04	B	0.25291	0.059	T	0.54675	-0.8258	9	.	.	.	.	14.326	0.66521	0.0722:0.0:0.9278:0.0	.	213	Q9Y5W5	WIF1_HUMAN	I	213	ENSP00000286574:L213I	.	L	-	1	0	WIF1	63746781	1.000000	0.71417	0.998000	0.56505	0.123000	0.20343	4.824000	0.62701	1.530000	0.49136	0.655000	0.94253	CTT		0.433	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			T	65460514	G	T	65460514	3	4	73	1	0	0	0	0	1	0	0	0	17371	1000	35	4	522	4	WIF1	12	65460514	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	10604003	65460514	68391381	64	5011											
PARP4	143	hgsc.bcm.edu	37	13	25029240	25029240	+	Silent	SNP	T	T	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr13:25029240T>C	ENST00000381989.3	-	22	2778	c.2673A>G	c.(2671-2673)acA>acG	p.T891T	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	891	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTTGCAAGAATGTCACACCCT	0.502																																																0													261	222	235					13																	25029240		2203	4300	6503	SO:0001819	synonymous_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2673A>G	chr13.hg19:g.25029240T>C			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	hg19	CCDS9307.1																																																																																				0.502	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		C	25029240	T	C	25029240	2	2	73	1	0	0	0	0	0	0	0	1	11465	1451	51	3		3	PARP4	13	25029240	Silent	SNP	T	TCGA-A4-8098-01A-11D-2396-08		25029240	90140638	65	5012											
CPB2	1361	hgsc.bcm.edu	37	13	46658419	46658419	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr13:46658419A>C	ENST00000181383.4	-	3	226	c.210T>G	c.(208-210)ttT>ttG	p.F70L	CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.F70L|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	70					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CATTTACAAAAAAATGGACTT	0.368																																																0													151	139	143					13																	46658419		2203	4300	6503	SO:0001583	missense	1361			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.210T>G	chr13.hg19:g.46658419A>C	ENSP00000181383:p.Phe70Leu		A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	hg19	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.740893	0.49151	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.13538	2.58;2.58	5.41	-2.81	0.05805	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.050842	0.85682	D	0.000000	T	0.12646	0.0307	L	0.42245	1.32	0.40335	D	0.978972	B;P	0.49253	0.337;0.921	B;P	0.46320	0.162;0.512	T	0.03875	-1.0996	10	0.44086	T	0.13	.	10.4812	0.44695	0.4897:0.0:0.5103:0.0	.	70;70	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	L	70	ENSP00000181383:F70L;ENSP00000400714:F70L	ENSP00000181383:F70L	F	-	3	2	CPB2	45556420	0.999000	0.42202	0.991000	0.47740	0.819000	0.46315	0.355000	0.20163	-0.389000	0.07786	-0.263000	0.10527	TTT		0.368	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		C	46658419	A	C	46658419	3	2	73	1	0	0	0	0	1	0	0	0	3799	11	1	5	1097	5	CPB2	13	46658419	Missense_Mutation	SNP	A	TCGA-A4-8098-01A-11D-2396-08	21629179	46658419	68511459	66	5013											
AP1G2	8906	hgsc.bcm.edu	37	14	24032848	24032848	+	Splice_Site	SNP	C	C	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr14:24032848C>T	ENST00000308724.5	-	12	1988		c.e12-1		RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|AP1G2_ENST00000556277.1_5'Flank|AP1G2_ENST00000397120.3_Splice_Site	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGGAGCAAACCTAGGGGATAT	0.567											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													138	109	119					14																	24032848		2203	4300	6503	SO:0001630	splice_region_variant	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1233-1G>A	chr14.hg19:g.24032848C>T		768	D3DS51|O75504	Splice_Site	SNP	ENST00000308724.5	hg19	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691409	0.48097	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7542	0.69552	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP1G2	23102688	1.000000	0.71417	0.997000	0.53966	0.613000	0.37349	4.964000	0.63701	2.314000	0.78098	0.557000	0.71058	.		0.567	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917	Intron	T	24032848	C	T	24032848	5	4	73	1	0	0	0	0	0	0	1	0	733	695	24	2	1165	2	AP1G2	14	24032848	Splice_Site	SNP	C	TCGA-A4-8098-01A-11D-2396-08		24032848	83316692	67	5014											
C14orf106	55320	hgsc.bcm.edu	37	14	45711249	45711249	+	Silent	SNP	A	A	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr14:45711249A>C	ENST00000310806.4	-	4	1589	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	377					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GATTTTTTTTAAGTCCATTTG	0.308																																																0													57	66	63					14																	45711249		2202	4294	6496	SO:0001819	synonymous_variant	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1131T>G	chr14.hg19:g.45711249A>C			D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	ENST00000310806.4	hg19	CCDS9684.1																																																																																				0.308	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			C	45711249	A	C	45711249	2	2	73	1	0	0	0	0	0	0	0	1	1740	349	13	5		5	C14orf106	14	45711249	Silent	SNP	A	TCGA-A4-8098-01A-11D-2396-08	21678401	45711249	61638291	68	5015											
LRRK1	79705	hgsc.bcm.edu	37	15	101529603	101529603	+	Splice_Site	SNP	A	A	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr15:101529603A>G	ENST00000388948.3	+	6	1121	c.762A>G	c.(760-762)acA>acG	p.T254T	LRRK1_ENST00000532029.2_Silent_p.T254T|LRRK1_ENST00000284395.5_Splice_Site_p.T251T	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGGAAAAACAGTGAGTAGTC	0.433																																																0													80	79	79					15																	101529603		1890	4124	6014	SO:0001630	splice_region_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.762+1A>G	chr15.hg19:g.101529603A>G				Silent	SNP	ENST00000388948.3	hg19	CCDS42086.1																																																																																				0.433	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	Silent	G	101529603	A	G	101529603	5	3	73	1	0	0	0	0	0	0	1	0	9034	202	7	3	780	3	LRRK1	15	101529603	Splice_Site	SNP	A	TCGA-A4-8098-01A-11D-2396-08		101529603	1001789	69	5016											
RAB11FIP3	9727	hgsc.bcm.edu	37	16	570232	570232	+	Silent	SNP	C	C	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:570232C>T	ENST00000262305.4	+	12	2359	c.1971C>T	c.(1969-1971)cgC>cgT	p.R657R	RAB11FIP3_ENST00000457159.1_Silent_p.R702R|RAB11FIP3_ENST00000450428.1_Silent_p.R361R	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	657					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				ACCACAGCCGCGCCCGGGAGA	0.682																																					Melanoma(160;2366 2595 4474 8099)											0													5	9	8					16																	570232		2086	4138	6224	SO:0001819	synonymous_variant	9727			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1971C>T	chr16.hg19:g.570232C>T			B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	hg19	CCDS32351.1																																																																																				0.682	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		T	570232	C	T	570232	2	4	73	1	0	0	0	0	0	0	0	1	12901	755	27	1		1	RAB11FIP3	16	570232	Silent	SNP	C	TCGA-A4-8098-01A-11D-2396-08		570232	89784521	70	5017											
ARL6IP1	23204	hgsc.bcm.edu	37	16	18810023	18810023	+	Splice_Site	SNP	A	A	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:18810023A>G	ENST00000304414.7	-	2	381	c.170T>C	c.(169-171)cTg>cCg	p.L57P	ARL6IP1_ENST00000546206.2_Splice_Site_p.L28P|RP11-1035H13.3_ENST00000567078.2_Splice_Site_p.L57P|ARL6IP1_ENST00000562819.1_Intron	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	57					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)				breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GCTCACTTACAGAAACACCAA	0.413																																																0													132	115	121					16																	18810023		2197	4300	6497	SO:0001630	splice_region_variant	23204			BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"ADP-ribosylation factor-like 6 interacting protein"	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.170+1T>C	chr16.hg19:g.18810023A>G				Missense_Mutation	SNP	ENST00000304414.7	hg19	CCDS10572.1	.	.	.	.	.	.	.	.	.	.	a	23.3	4.394667	0.83011	.	.	ENSG00000170540	ENST00000304414;ENST00000545430;ENST00000546206	T;T	0.52754	0.65;0.65	5.07	5.07	0.68467	.	0.320357	0.30930	N	0.008581	T	0.64182	0.2575	M	0.65498	2.005	0.80722	D	1	D	0.58970	0.984	D	0.64237	0.923	T	0.64841	-0.6312	9	.	.	.	-0.7325	14.7838	0.69787	1.0:0.0:0.0:0.0	.	57	Q15041	AR6P1_HUMAN	P	57;9;28	ENSP00000306788:L57P;ENSP00000440048:L28P	.	L	-	2	0	ARL6IP1	18717524	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.476000	0.81055	2.016000	0.59253	0.533000	0.62120	CTG		0.413	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254156.2	NM_015161	Missense_Mutation	G	18810023	A	G	18810023	5	3	73	1	0	0	0	0	0	0	1	0	942	202	7	3	461	3	ARL6IP1	16	18810023	Splice_Site	SNP	A	TCGA-A4-8098-01A-11D-2396-08	18239791	18810023	71544730	71	5018											
PRSS53	339105	hgsc.bcm.edu	37	16	31098021	31098021	+	Silent	SNP	C	C	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:31098021C>T	ENST00000280606.6	-	4	594	c.441G>A	c.(439-441)caG>caA	p.Q147Q		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	147	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						GATGGGCGGGCTGGGGCAGGC	0.657																																																0													30	38	35					16																	31098021		1927	4114	6041	SO:0001819	synonymous_variant	339105				CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"Serine peptidases / Serine peptidases"	34407	protein-coding gene	gene with protein product	"polyserase 3"	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.441G>A	chr16.hg19:g.31098021C>T				Silent	SNP	ENST00000280606.6	hg19	CCDS42153.1																																																																																				0.657	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		T	31098021	C	T	31098021	2	4	73	1	0	0	0	0	0	0	0	1	12637	796	28	2		2	PRSS53	16	31098021	Silent	SNP	C	TCGA-A4-8098-01A-11D-2396-08	12287998	31098021	59256732	72	5019											
DDX19B	11269	hgsc.bcm.edu	37	16	70346536	70346536	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:70346536G>C	ENST00000288071.6	+	2	327	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	DDX19B_ENST00000451014.3_Missense_Mutation_p.E33Q|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.E28Q|DDX19B_ENST00000393657.2_Intron|DDX19B_ENST00000568625.1_Intron|DDX19B_ENST00000563392.1_Intron|DDX19B_ENST00000563206.1_Missense_Mutation_p.E33Q|DDX19B_ENST00000570055.1_3'UTR|DDX19B_ENST00000355992.3_Missense_Mutation_p.E28Q	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	28	N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TCTTAAGGAAGAGAAAATCAA	0.378																																					Esophageal Squamous(26;382 757 1343 9728 15939)											0													100	94	96					16																	70346536		2198	4300	6498	SO:0001583	missense	11269			AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"DEAD-boxes"	2742	protein-coding gene	gene with protein product		605812	"DEAD (Asp-Glu-Ala-As) box polypeptide 19", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.82G>C	chr16.hg19:g.70346536G>C	ENSP00000288071:p.Glu28Gln		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	hg19	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714638	0.48622	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000288071	T;T;T	0.62639	3.73;0.01;0.01	5.24	5.24	0.73138	.	0.047526	0.85682	D	0.000000	T	0.50360	0.1611	L	0.31845	0.965	0.43000	D	0.994511	B;B;P;B	0.36535	0.085;0.259;0.557;0.006	B;B;B;B	0.33620	0.015;0.11;0.167;0.01	T	0.53436	-0.8439	10	0.42905	T	0.14	.	14.1874	0.65614	0.0:0.0:1.0:0.0	.	33;28;28;28	E7EMK4;Q7Z4W5;Q9UMR2-2;Q9UMR2	.;.;.;DD19B_HUMAN	Q	33;28;28	ENSP00000392639:E33Q;ENSP00000348271:E28Q;ENSP00000288071:E28Q	ENSP00000288071:E28Q	E	+	1	0	DDX19B	68904037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.261000	0.65496	2.732000	0.93576	0.655000	0.94253	GAG		0.378	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		C	70346536	G	C	70346536	3	2	73	1	0	0	0	0	1	0	0	0	4349	943	33	4	88	4	DDX19B	16	70346536	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	39248515	70346536	20008217	73	5020											
TXNL4B	54957	hgsc.bcm.edu	37	16	72120699	72120699	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:72120699G>T	ENST00000268483.3	-	4	608	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000423037.1_Missense_Mutation_p.S96Y|TXNL4B_ENST00000426362.2_Missense_Mutation_p.S96Y	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	96					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						GTGATCTGGAGATCTAGACAG	0.358																																																0													68	65	66					16																	72120699		2198	4300	6498	SO:0001583	missense	54957			BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.287C>A	chr16.hg19:g.72120699G>T	ENSP00000268483:p.Ser96Tyr		D3DWS6	Missense_Mutation	SNP	ENST00000268483.3	hg19	CCDS10906.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824185	0.90955	.	.	ENSG00000140830	ENST00000268483;ENST00000426362;ENST00000423037	.	.	.	5.87	5.87	0.94306	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	P	0.60345	0.873	T	0.66594	-0.5884	9	0.87932	D	0	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	96	Q9NX01	TXN4B_HUMAN	Y	96	.	ENSP00000268483:S96Y	S	-	2	0	TXNL4B	70678200	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	TCT		0.358	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269007.2	NM_017853		T	72120699	G	T	72120699	3	4	73	1	0	0	0	0	1	0	0	0	16811	942	33	4	166	4	TXNL4B	16	72120699	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	1774163	72120699	18234054	74	5021											
SLC2A4	6517	hgsc.bcm.edu	37	17	7189210	7189210	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:7189210G>C	ENST00000317370.8	+	10	1577	c.1309G>C	c.(1309-1311)Ggt>Cgt	p.G437R	SLC2A4_ENST00000571308.1_Missense_Mutation_p.G437R|SLC2A4_ENST00000424875.2_Missense_Mutation_p.G427R|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	437					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CATTGGCATGGGTTTCCAGTA	0.627																																																0													88	72	77					17																	7189210		2203	4300	6503	SO:0001583	missense	6517			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"Solute carriers"	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.1309G>C	chr17.hg19:g.7189210G>C	ENSP00000320935:p.Gly437Arg		Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	hg19	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851854	0.51270	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.74002	-0.8;-0.8	5.09	1.72	0.24424	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.256239	0.39834	N	0.001255	T	0.72162	0.3426	M	0.67569	2.06	0.46654	D	0.999149	P;P	0.40144	0.539;0.704	P;B	0.48488	0.579;0.443	T	0.65463	-0.6162	10	0.30854	T	0.27	.	3.2542	0.06826	0.2014:0.0:0.4319:0.3667	.	437;427	P14672;F5H081	GTR4_HUMAN;.	R	437;427	ENSP00000320935:G437R;ENSP00000396887:G427R	ENSP00000320935:G437R	G	+	1	0	SLC2A4	7129934	0.224000	0.23674	0.998000	0.56505	0.998000	0.95712	-0.437000	0.06914	0.677000	0.31305	0.563000	0.77884	GGT		0.627	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			C	7189210	G	C	7189210	3	2	73	1	0	0	0	0	1	0	0	0	14552	1232	43	4	1347	4	SLC2A4	17	7189210	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08		7189210	74006000	75	5022											
POLR2A	5430	hgsc.bcm.edu	37	17	7399344	7399344	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:7399344C>G	ENST00000322644.6	+	2	577	c.178C>G	c.(178-180)Ccg>Gcg	p.P60A	POLR2A_ENST00000572844.1_Missense_Mutation_p.P60A	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	60					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCTGATGGACCCGAGGCAGGG	0.612																																																0													42	48	46					17																	7399344		2202	4299	6501	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.178C>G	chr17.hg19:g.7399344C>G	ENSP00000314949:p.Pro60Ala		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	hg19	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134164	0.77662	.	.	ENSG00000181222	ENST00000322644	T	0.21734	1.99	5.33	5.33	0.75918	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.48927	-0.8991	10	0.87932	D	0	.	17.783	0.88529	0.0:1.0:0.0:0.0	.	60;60	P24928;Q6NX41	RPB1_HUMAN;.	A	60	ENSP00000314949:P60A	ENSP00000314949:P60A	P	+	1	0	SLC35G6	7340068	1.000000	0.71417	0.995000	0.50966	0.853000	0.48598	7.142000	0.77339	2.499000	0.84300	0.467000	0.42956	CCG		0.612	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		G	7399344	C	G	7399344	3	3	73	1	0	0	0	0	1	0	0	0	12216	623	22	4	184	4	POLR2A	17	7399344	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	210134	7399344	73795866	76	5023											
TAF15	8148	hgsc.bcm.edu	37	17	34172014	34172014	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:34172014G>T	ENST00000588240.1	+	15	1826	c.1711G>T	c.(1711-1713)Ggt>Tgt	p.G571C	TAF15_ENST00000311979.3_Missense_Mutation_p.G568C|TAF15_ENST00000592237.1_Missense_Mutation_p.E375D	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGGAGACCGAGGTGGCTATGG	0.527			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																		Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	0													76	89	85					17																	34172014		2203	4300	6503	SO:0001583	missense	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1711G>T	chr17.hg19:g.34172014G>T	ENSP00000466950:p.Gly571Cys		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	hg19	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911288	0.52439	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	D	0.94862	-3.54	5.07	4.09	0.47781	.	.	.	.	.	D	0.94424	0.8206	L	0.34521	1.04	0.39114	D	0.961521	D;D	0.89917	1.0;1.0	D;D	0.69479	0.92;0.964	D	0.94444	0.7661	9	0.87932	D	0	-3.2622	10.8882	0.46978	0.0922:0.0:0.9078:0.0	.	571;568	Q92804;Q92804-2	RBP56_HUMAN;.	C	571;374	ENSP00000309558:G571C	ENSP00000309558:G571C	G	+	1	0	TAF15	31196127	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.652000	0.61454	2.520000	0.84964	0.591000	0.81541	GGT		0.527	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		T	34172014	G	T	34172014	3	4	73	1	0	0	0	0	1	0	0	0	15523	1000	35	4	1769	4	TAF15	17	34172014	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	26772670	34172014	47023196	77	5024											
ACACA	31	hgsc.bcm.edu	37	17	35567392	35567392	+	Silent	SNP	A	A	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:35567392A>G	ENST00000394406.2	-	30	3775	c.3585T>C	c.(3583-3585)ccT>ccC	p.P1195P	ACACA_ENST00000353139.5_Silent_p.P1232P|ACACA_ENST00000360679.3_Silent_p.P1137P|ACACA_ENST00000335166.5_Silent_p.P1117P	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1195					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGTTTAGCGTAGGGATGTTCC	0.343																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											0													94	95	95					17																	35567392		2203	4300	6503	SO:0001819	synonymous_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3585T>C	chr17.hg19:g.35567392A>G			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	hg19	CCDS11317.1																																																																																				0.343	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		G	35567392	A	G	35567392	2	3	73	1	0	0	0	0	0	0	0	1	106	407	15	3		3	ACACA	17	35567392	Silent	SNP	A	TCGA-A4-8098-01A-11D-2396-08	1395378	35567392	45627818	78	5025											
LRRC46	90506	hgsc.bcm.edu	37	17	45914207	45914207	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:45914207G>A	ENST00000269025.4	+	8	1050	c.687G>A	c.(685-687)atG>atA	p.M229I		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	229										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGATGGAGATGCAGCCCACCC	0.667																																																0													54	56	55					17																	45914207		2203	4300	6503	SO:0001583	missense	90506				CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.687G>A	chr17.hg19:g.45914207G>A	ENSP00000269025:p.Met229Ile		A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	hg19	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	G	6.561	0.471736	0.12461	.	.	ENSG00000141294	ENST00000269025	T	0.72167	-0.63	5.53	-11.1	0.00147	.	1.132520	0.06682	N	0.768096	T	0.41558	0.1164	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47623	-0.9103	10	0.37606	T	0.19	0.4736	6.5183	0.22260	0.1084:0.4274:0.3331:0.131	.	229;229	A8K9Q0;Q96FV0	.;LRC46_HUMAN	I	229	ENSP00000269025:M229I	ENSP00000269025:M229I	M	+	3	0	LRRC46	43269206	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-6.635000	0.00058	-4.674000	0.00036	-1.325000	0.01285	ATG		0.667	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		A	45914207	G	A	45914207	3	1	73	1	0	0	0	0	1	0	0	0	9005	1319	46	2	717	2	LRRC46	17	45914207	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	10346815	45914207	35281003	79	5026											
ACSF2	80221	hgsc.bcm.edu	37	17	48549793	48549793	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:48549793G>A	ENST00000300441.4	+	12	1432	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q	ACSF2_ENST00000504392.1_Missense_Mutation_p.R400Q|ACSF2_ENST00000541920.1_Missense_Mutation_p.R283Q|ACSF2_ENST00000502667.1_Missense_Mutation_p.R430Q|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000427954.2_Missense_Mutation_p.R468Q	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	443					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCCAGGCCCGGATCATGAAC	0.612																																																0													50	48	49					17																	48549793		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1328G>A	chr17.hg19:g.48549793G>A	ENSP00000300441:p.Arg443Gln		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	hg19	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851859	0.32699	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.09	1.7	0.24286	AMP-dependent synthetase/ligase (1);	0.312695	0.37393	N	0.002103	T	0.26810	0.0656	L	0.28192	0.835	0.24361	N	0.994876	B;B;B;B	0.15930	0.003;0.015;0.003;0.003	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.18085	-1.0348	10	0.52906	T	0.07	-5.2723	7.7408	0.28841	0.7438:0.0:0.2562:0.0	.	430;468;400;443	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	Q	443;283;400;468;430	ENSP00000300441:R443Q;ENSP00000437987:R283Q;ENSP00000425964:R400Q;ENSP00000401831:R468Q;ENSP00000421884:R430Q	ENSP00000300441:R443Q	R	+	2	0	ACSF2	45904792	1.000000	0.71417	0.994000	0.49952	0.237000	0.25408	4.324000	0.59228	0.295000	0.22570	-0.378000	0.06908	CGG		0.612	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		A	48549793	G	A	48549793	3	1	73	1	0	0	0	0	1	0	0	0	175	1116	39	1	1374	1	ACSF2	17	48549793	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	2635586	48549793	32645417	80	5027											
PITPNC1	26207	hgsc.bcm.edu	37	17	65665781	65665781	+	Splice_Site	SNP	T	T	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:65665781T>C	ENST00000581322.1	+	7	618		c.e7+2		PITPNC1_ENST00000335257.6_Splice_Site|PITPNC1_ENST00000580974.1_Splice_Site|PITPNC1_ENST00000299954.9_Splice_Site			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1						phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GTACACAAGGTAAGTGGTCCA	0.468																																																0													64	68	67					17																	65665781		1987	4159	6146	SO:0001630	splice_region_variant	26207			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.618+2T>C	chr17.hg19:g.65665781T>C			A8K473|J3QR20|Q96I07	Splice_Site	SNP	ENST00000581322.1	hg19	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709581	0.68730	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0556	0.80801	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PITPNC1	63096243	1.000000	0.71417	0.955000	0.39395	0.604000	0.37047	7.880000	0.87243	2.239000	0.73571	0.533000	0.62120	.		0.468	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417	Intron	C	65665781	T	C	65665781	5	2	73	1	0	0	0	0	0	0	1	0	11951	1652	57	3	646	3	PITPNC1	17	65665781	Splice_Site	SNP	T	TCGA-A4-8098-01A-11D-2396-08	17115988	65665781	15529429	81	5028											
DNAH17	8632	hgsc.bcm.edu	37	17	76491997	76491997	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:76491997C>G	ENST00000585328.1	-	38	5972	c.5848G>C	c.(5848-5850)Gga>Cga	p.G1950R	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17-AS1_ENST00000598378.1_5'Flank|DNAH17_ENST00000389840.5_Missense_Mutation_p.G1941R|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1941	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCGCGCGTCCGGCGTACCCA	0.557																																																0													93	94	94					17																	76491997		2059	4237	6296	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5848G>C	chr17.hg19:g.76491997C>G	ENSP00000465516:p.Gly1950Arg		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	hg19		.	.	.	.	.	.	.	.	.	.	c	16.89	3.247501	0.59103	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.17528	2.27	4.49	4.49	0.54785	.	.	.	.	.	T	0.57902	0.2085	H	0.96833	3.89	0.58432	D	0.999995	.	.	.	.	.	.	T	0.74910	-0.3503	7	0.87932	D	0	.	17.7846	0.88533	0.0:1.0:0.0:0.0	.	.	.	.	R	1950;1941	ENSP00000374490:G1941R	ENSP00000300671:G1950R	G	-	1	0	DNAH17	74003592	1.000000	0.71417	0.121000	0.21740	0.087000	0.18053	7.472000	0.80996	2.501000	0.84356	0.537000	0.68136	GGA		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		G	76491997	C	G	76491997	3	3	73	1	0	0	0	0	1	0	0	0	4603	661	23	4	7701	4	DNAH17	17	76491997	Missense_Mutation	SNP	C	TCGA-A4-8098-01A-11D-2396-08	10826216	76491997	4703213	82	5029											
PNPLA6	10908	hgsc.bcm.edu	37	19	7615223	7615223	+	Silent	SNP	G	G	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr19:7615223G>A	ENST00000221249.6	+	18	2168	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	PNPLA6_ENST00000545201.2_Silent_p.A553A|PNPLA6_ENST00000600737.1_Silent_p.A618A|PNPLA6_ENST00000450331.3_Silent_p.A579A|PNPLA6_ENST00000414982.3_Silent_p.A627A|PNPLA6_ENST00000594864.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	618					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAGTGCGGCGCACACGGTGG	0.637																																																0													61	58	59					19																	7615223		2202	4290	6492	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1737G>A	chr19.hg19:g.7615223G>A			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	hg19	CCDS32891.1																																																																																				0.637	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		A	7615223	G	A	7615223	2	1	73	1	0	0	0	0	0	0	0	1	12171	1074	38	1		1	PNPLA6	19	7615223	Silent	SNP	G	TCGA-A4-8098-01A-11D-2396-08		7615223	51513760	83	5030											
JUNB	3726	hgsc.bcm.edu	37	19	12902787	12902787	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr19:12902787T>C	ENST00000302754.4	+	1	478	c.202T>C	c.(202-204)Tac>Cac	p.Y68H		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	68					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						TGGCGGCAGCTACTTTTCTGG	0.672																																																0													12	13	13					19																	12902787		2200	4294	6494	SO:0001583	missense	3726			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.202T>C	chr19.hg19:g.12902787T>C	ENSP00000303315:p.Tyr68His		Q96GH3	Missense_Mutation	SNP	ENST00000302754.4	hg19	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192125	0.38707	.	.	ENSG00000171223	ENST00000302754	T	0.29142	1.58	4.97	4.97	0.65823	Jun-like transcription factor (1);	1.243760	0.05788	U	0.609862	T	0.21103	0.0508	N	0.22421	0.69	0.34616	D	0.718126	B	0.18166	0.026	B	0.11329	0.006	T	0.28681	-1.0036	10	0.15499	T	0.54	-6.7954	6.385	0.21556	0.0:0.1805:0.0:0.8195	.	68	P17275	JUNB_HUMAN	H	68	ENSP00000303315:Y68H	ENSP00000303315:Y68H	Y	+	1	0	JUNB	12763787	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.617000	0.36943	1.865000	0.54081	0.448000	0.29417	TAC		0.672	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		C	12902787	T	C	12902787	3	2	73	1	0	0	0	0	1	0	0	0	7972	1522	53	3	204	3	JUNB	19	12902787	Missense_Mutation	SNP	T	TCGA-A4-8098-01A-11D-2396-08	5287564	12902787	46226196	84	5031											
ZNF681	148213	hgsc.bcm.edu	37	19	23927146	23927146	+	Silent	SNP	A	A	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr19:23927146A>G	ENST00000402377.3	-	4	1347	c.1206T>C	c.(1204-1206)gcT>gcC	p.A402A	ZNF681_ENST00000395385.3_Silent_p.A333A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACTTGTTAAAAGCTTTGCCAC	0.398																																																0													69	74	72					19																	23927146		2203	4300	6503	SO:0001819	synonymous_variant	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1206T>C	chr19.hg19:g.23927146A>G			B3KVF7	Silent	SNP	ENST00000402377.3	hg19	CCDS12414.2																																																																																				0.398	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		G	23927146	A	G	23927146	2	3	73	1	0	0	0	0	0	0	0	1	18093	59	3	3		3	ZNF681	19	23927146	Silent	SNP	A	TCGA-A4-8098-01A-11D-2396-08	11024359	23927146	35201837	85	5032											
LSM14A	26065	hgsc.bcm.edu	37	19	34712486	34712486	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr19:34712486G>T	ENST00000433627.5	+	9	1286	c.1211G>T	c.(1210-1212)cGt>cTt	p.R404L	LSM14A_ENST00000540746.2_Missense_Mutation_p.R363L|LSM14A_ENST00000544216.3_Missense_Mutation_p.R404L	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	404					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CGTCCAAACCGTGGCCGTGGG	0.507																																																0													96	71	79					19																	34712486		2203	4300	6503	SO:0001583	missense	26065			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1211G>T	chr19.hg19:g.34712486G>T	ENSP00000413964:p.Arg404Leu		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	hg19	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	g	28.6	4.933243	0.92458	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.18657	2.2;2.2;2.2	5.96	4.93	0.64822	.	0.104479	0.64402	D	0.000004	T	0.40297	0.1111	M	0.76002	2.32	0.80722	D	1	P;D;D	0.56287	0.889;0.958;0.975	B;P;P	0.55824	0.396;0.614;0.785	T	0.26503	-1.0101	10	0.37606	T	0.19	-9.5825	15.0274	0.71680	0.0679:0.0:0.9321:0.0	.	363;404;404	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	L	404;404;363	ENSP00000446271:R404L;ENSP00000413964:R404L;ENSP00000446451:R363L	ENSP00000314768:R404L	R	+	2	0	LSM14A	39404326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.382000	0.97209	1.533000	0.49186	0.655000	0.94253	CGT		0.507	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		T	34712486	G	T	34712486	3	4	73	1	0	0	0	0	1	0	0	0	9056	1145	40	4	1245	4	LSM14A	19	34712486	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	10785340	34712486	24416497	86	5033											
SIPA1L3	23094	hgsc.bcm.edu	37	19	38572702	38572702	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr19:38572702T>C	ENST00000222345.6	+	3	1006	c.497T>C	c.(496-498)cTt>cCt	p.L166P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	166					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCCTCCCCCTTCGGCACCGC	0.711																																																0													46	56	53					19																	38572702		2203	4299	6502	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.497T>C	chr19.hg19:g.38572702T>C	ENSP00000222345:p.Leu166Pro		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	hg19	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.672868	0.67928	.	.	ENSG00000105738	ENST00000222345	T	0.80994	-1.44	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000006	D	0.83737	0.5319	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.85925	0.1448	10	0.87932	D	0	-15.4086	14.0813	0.64925	0.0:0.0:0.0:1.0	.	166	O60292	SI1L3_HUMAN	P	166	ENSP00000222345:L166P	ENSP00000222345:L166P	L	+	2	0	SIPA1L3	43264542	0.433000	0.25562	0.937000	0.37676	0.960000	0.62799	3.929000	0.56514	1.971000	0.57363	0.460000	0.39030	CTT		0.711	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		C	38572702	T	C	38572702	3	2	73	1	0	0	0	0	1	0	0	0	14337	1609	56	3	499	3	SIPA1L3	19	38572702	Missense_Mutation	SNP	T	TCGA-A4-8098-01A-11D-2396-08	3860216	38572702	20556281	87	5034											
MYL9	10398	hgsc.bcm.edu	37	20	35177592	35177592	+	Silent	SNP	C	C	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr20:35177592C>T	ENST00000279022.2	+	4	563	c.459C>T	c.(457-459)aaC>aaT	p.N153N	RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Silent_p.N99N	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	153	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAAAGGCAACTTCAACTACG	0.592																																																0													112	95	101					20																	35177592		2203	4300	6503	SO:0001819	synonymous_variant	10398			J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"Myosins / Light chain", "EF-hand domain containing"	15754	protein-coding gene	gene with protein product	"myosin regulatory light chain 2, smooth muscle isoform", "myosin regulatory light chain 1"	609905	"myosin, light polypeptide 9, regulatory"			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.459C>T	chr20.hg19:g.35177592C>T			E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	ENST00000279022.2	hg19	CCDS13276.1																																																																																				0.592	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		T	35177592	C	T	35177592	2	4	73	1	0	0	0	0	0	0	0	1	10056	564	20	2		2	MYL9	20	35177592	Silent	SNP	C	TCGA-A4-8098-01A-11D-2396-08		35177592	27847928	88	5035											
TGIF2	60436	hgsc.bcm.edu	37	20	35219568	35219569	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr20:35219568_35219569insA	ENST00000373874.2	+	3	647_648	c.448_449insA	c.(448-450)gagfs	p.E150fs	TGIF2_ENST00000373872.4_Frame_Shift_Ins_p.E150fs|TGIF2-C20orf24_ENST00000558530.1_Intron|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	150	Repressive function.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CCCACGTGGGGAGCTGGAGTCT	0.629																																																0																																										SO:0001589	frameshift_variant	60436			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"Homeoboxes / TALE class"	15764	protein-coding gene	gene with protein product		607294	"TGFB-induced factor 2 (TALE family homeobox)"			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.449dupA	chr20.hg19:g.35219569_35219569dupA	ENSP00000362981:p.Glu150fs		B2R9U3|E1P5T9|H0YNI0	Frame_Shift_Ins	INS	ENST00000373874.2	hg19	CCDS13278.1																																																																																				0.629	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809		A	35219569	-	A	35219568	7	5	73	1	0	1	1	0	0	0	0	0	15831	1175	41	0	454	0	TGIF2	20	35219568	Frame_Shift_Ins	INS	-	TCGA-A4-8098-01A-11D-2396-08	41976	35219568	27805952	89	5036											
UBA1	7317	hgsc.bcm.edu	37	X	47069022	47069022	+	Splice_Site	SNP	T	T	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chrX:47069022T>G	ENST00000335972.6	+	17	2122	c.1939T>G	c.(1939-1941)Tgg>Ggg	p.W647G	UBA1_ENST00000377269.3_Missense_Mutation_p.W95G|UBA1_ENST00000377351.4_Splice_Site_p.W647G	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	647					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGTCTGCAGTGGGCTCGGGA	0.498																																																0													122	93	103					X																	47069022		2203	4300	6503	SO:0001630	splice_region_variant	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1939-1T>G	chrX.hg19:g.47069022T>G			Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	hg19	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009850	0.75046	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.51817	0.69;0.69;0.69	5.22	5.22	0.72569	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.111594	0.64402	D	0.000003	T	0.79782	0.4505	H	0.98577	4.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86491	0.1797	10	0.87932	D	0	-10.8017	11.8816	0.52579	0.0:0.0:0.0:1.0	.	95;647	Q5JRR6;P22314	.;UBA1_HUMAN	G	647;647;95	ENSP00000366568:W647G;ENSP00000338413:W647G;ENSP00000366481:W95G	ENSP00000338413:W647G	W	+	1	0	UBA1	46953966	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.580000	0.82523	1.860000	0.53959	0.427000	0.28365	TGG		0.498	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	Missense_Mutation	G	47069022	T	G	47069022	5	3	73	1	0	0	0	0	0	0	1	0	16832	1710	59	5	2001	5	UBA1	23	47069022	Splice_Site	SNP	T	TCGA-A4-8098-01A-11D-2396-08		47069022	108201538	90	5037											
STAG2	10735	hgsc.bcm.edu	37	X	123211859	123211862	+	Frame_Shift_Del	DEL	AGAT	AGAT	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	AGAT	AGAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chrX:123211859_123211862delAGAT	ENST00000371160.1	+	27	3016_3019	c.2726_2729delAGAT	c.(2725-2730)cagatafs	p.QI909fs	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Del_p.QI909fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.QI909fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.QI909fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.QI840fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.QI909fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	909					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAAACAAGGCAGATAGACAAAATT	0.314																																																0																																										SO:0001589	frameshift_variant	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2726_2729delAGAT	chrX.hg19:g.123211859_123211862delAGAT	ENSP00000360202:p.Gln909fs		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	hg19	CCDS14607.1																																																																																				0.314	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		-	123211862	AGAT	-	123211859	7	5	73	1	0	1	0	1	0	0	0	0	15248	188	7	0	2824	0	STAG2	23	123211859	Frame_Shift_Del	DEL	AGAT	TCGA-A4-8098-01A-11D-2396-08	76142837	123211859	32058701	91	5038											
PLXNB3	5365	hgsc.bcm.edu	37	X	153037078	153037078	+	Missense_Mutation	SNP	G	G	C	rs375202688		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chrX:153037078G>C	ENST00000361971.5	+	14	2599	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q	PLXNB3_ENST00000538776.1_Missense_Mutation_p.E482Q|PLXNB3_ENST00000538966.1_Missense_Mutation_p.E852Q|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.E439Q	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	829	PSI 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGCTGTGGAGCTGCTGTG	0.692																																																0													20	20	20					X																	153037078		2180	4292	6472	SO:0001583	missense	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2485G>C	chrX.hg19:g.153037078G>C	ENSP00000355378:p.Glu829Gln		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	hg19	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404697	0.25378	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.66460	5.33;5.29;4.71;-0.21	5.01	-0.321	0.12717	.	.	.	.	.	T	0.59945	0.2231	L	0.55103	1.725	0.09310	N	1	B;B;B;B	0.23128	0.001;0.08;0.009;0.003	B;B;B;B	0.17098	0.005;0.017;0.008;0.005	T	0.43718	-0.9374	9	0.12103	T	0.63	.	17.8542	0.88758	0.0:0.6872:0.3128:0.0	.	482;511;852;829	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	Q	852;829;482;439	ENSP00000442736:E852Q;ENSP00000355378:E829Q;ENSP00000445569:E482Q;ENSP00000441919:E439Q	ENSP00000355378:E829Q	E	+	1	0	PLXNB3	152690272	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.736000	0.26130	-0.636000	0.05524	-0.347000	0.07816	GAG		0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			C	153037078	G	C	153037078	3	2	73	1	0	0	0	0	1	0	0	0	12127	1175	41	4	2653	4	PLXNB3	23	153037078	Missense_Mutation	SNP	G	TCGA-A4-8098-01A-11D-2396-08	29825219	153037078	2233482	92	5039											
FBXO42	54455	hgsc.bcm.edu	37	1	16577319	16577320	+	Frame_Shift_Ins	INS	-	-	TATTAAA			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:16577319_16577320insTATTAAA	ENST00000375592.3	-	10	2215_2216	c.1999_2000insTTTAATA	c.(1999-2001)agcfs	p.S667fs		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	667										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CACAGAACTGCTATTAAATACT	0.475																																																0																																										SO:0001589	frameshift_variant	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1993_1999dupTTTAATA	chr1.hg19:g.16577320_16577326dupTATTAAA	ENSP00000364742:p.Ser667fs		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Frame_Shift_Ins	INS	ENST00000375592.3	hg19	CCDS30613.1																																																																																				0.475	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			TATTAAA	16577320	-	TATTAAA	16577319	7	5	74	1	0	1	1	0	0	0	0	0	5753	797	28	0	157	0	FBXO42	1	16577319	Frame_Shift_Ins	INS	-	TCGA-A4-8310-01A-11D-2396-08		16577319	232673302	1	5040											
ASAP3	55616	hgsc.bcm.edu	37	1	23779230	23779231	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:23779230_23779231insGG	ENST00000336689.3	-	4	426_427	c.382_383insCC	c.(382-384)ctgfs	p.L128fs	ASAP3_ENST00000437606.2_Frame_Shift_Ins_p.L128fs	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	128					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CAGACTGTCCAGGGGGAAAGAG	0.559																																																0																																										SO:0001589	frameshift_variant	55616			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.381_382dupCC	chr1.hg19:g.23779233_23779234dupGG	ENSP00000338769:p.Leu128fs		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Frame_Shift_Ins	INS	ENST00000336689.3	hg19	CCDS235.1																																																																																				0.559	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		GG	23779231	-	GG	23779230	7	5	74	1	0	1	1	0	0	0	0	0	1012	188	7	0	2439	0	ASAP3	1	23779230	Frame_Shift_Ins	INS	-	TCGA-A4-8310-01A-11D-2396-08	7201911	23779230	225471391	2	5041											
LDLRAP1	26119	hgsc.bcm.edu	37	1	25889193	25889193	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:25889193A>G	ENST00000374338.4	+	5	637	c.518A>G	c.(517-519)cAg>cGg	p.Q173R	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	173	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTTTTGGCAGGTGTCCAAG	0.572																																																0													139	124	129					1																	25889193		2203	4300	6503	SO:0001583	missense	26119			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.518A>G	chr1.hg19:g.25889193A>G	ENSP00000363458:p.Gln173Arg		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	hg19	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858315	0.71834	.	.	ENSG00000157978	ENST00000374338	T	0.64260	-0.09	5.56	5.56	0.83823	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	L	0.49350	1.555	0.58432	D	0.999998	B	0.25105	0.118	B	0.39339	0.297	T	0.63950	-0.6521	10	0.45353	T	0.12	-17.9581	14.8888	0.70590	1.0:0.0:0.0:0.0	.	173	Q5SW96	ARH_HUMAN	R	173	ENSP00000363458:Q173R	ENSP00000363458:Q173R	Q	+	2	0	LDLRAP1	25761780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.809000	0.91944	2.117000	0.64856	0.454000	0.30748	CAG		0.572	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		G	25889193	A	G	25889193	3	3	74	1	0	0	0	0	1	0	0	0	8710	188	7	3	536	3	LDLRAP1	1	25889193	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08	2109963	25889193	223361428	3	5042											
GTF2B	2959	hgsc.bcm.edu	37	1	89325567	89325567	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:89325567T>C	ENST00000370500.5	-	5	651	c.533A>G	c.(532-534)aAa>aGa	p.K178R	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	178					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		AAACTTACCTTTAAATGTCCT	0.418																																																0													118	124	122					1																	89325567		2203	4300	6503	SO:0001583	missense	2959			M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"General transcription factors"	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.533A>G	chr1.hg19:g.89325567T>C	ENSP00000359531:p.Lys178Arg		A8K1A7|Q5JS30	Missense_Mutation	SNP	ENST00000370500.5	hg19	CCDS715.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308867	0.81247	.	.	ENSG00000137947	ENST00000370500;ENST00000448623;ENST00000418217	T;T;T	0.51574	0.77;0.7;0.7	5.52	5.52	0.82312	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	L	0.48174	1.505	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.50171	-0.8859	10	0.34782	T	0.22	-32.0439	15.9344	0.79691	0.0:0.0:0.0:1.0	.	178	Q00403	TF2B_HUMAN	R	178;177;173	ENSP00000359531:K178R;ENSP00000415741:K177R;ENSP00000402345:K173R	ENSP00000359531:K178R	K	-	2	0	GTF2B	89098155	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.587000	0.82613	2.214000	0.71695	0.482000	0.46254	AAA		0.418	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514		C	89325567	T	C	89325567	3	2	74	1	0	0	0	0	1	0	0	0	6857	1841	64	3	429	3	GTF2B	1	89325567	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08	63436374	89325567	159925054	4	5043											
CCDC18	343099	hgsc.bcm.edu	37	1	93680444	93680444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:93680444delC	ENST00000343253.7	+	12	2139	c.1637delC	c.(1636-1638)gctfs	p.A546fs	CCDC18_ENST00000401026.3_Frame_Shift_Del_p.A547fs|CCDC18_ENST00000557479.1_Frame_Shift_Del_p.A665fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Frame_Shift_Del_p.A346fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	546										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GTTAACATGGCTCACAGAACT	0.388																																																0													51	48	49					1																	93680444		1844	4098	5942	SO:0001589	frameshift_variant	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1637delC	chr1.hg19:g.93680444delC	ENSP00000343377:p.Ala546fs		Q6ZU17	Frame_Shift_Del	DEL	ENST00000343253.7	hg19																																																																																					0.388	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		-	93680444	C	-	93680444	7	5	74	1	0	1	0	1	0	0	0	0	2796	797	28	0	2040	0	CCDC18	1	93680444	Frame_Shift_Del	DEL	C	TCGA-A4-8310-01A-11D-2396-08	4354877	93680444	155570177	5	5044											
GOLPH3L	55204	hgsc.bcm.edu	37	1	150634375	150634375	+	Silent	SNP	A	A	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:150634375A>T	ENST00000271732.3	-	4	389	c.345T>A	c.(343-345)ggT>ggA	p.G115G	GOLPH3L_ENST00000540514.1_Silent_p.G71G	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	115					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTAAAACATCACCTGTTGGGC	0.383																																																0													167	160	162					1																	150634375		2203	4300	6503	SO:0001819	synonymous_variant	55204			AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.345T>A	chr1.hg19:g.150634375A>T			B1AN09|B7Z6N3|Q9NVK0	Silent	SNP	ENST00000271732.3	hg19	CCDS966.1																																																																																				0.383	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		T	150634375	A	T	150634375	2	4	74	1	0	0	0	0	0	0	0	1	6571	146	6	5		5	GOLPH3L	1	150634375	Silent	SNP	A	TCGA-A4-8310-01A-11D-2396-08	56953931	150634375	98616246	6	5045											
DENND4B	9909	hgsc.bcm.edu	37	1	153915526	153915526	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:153915526A>T	ENST00000361217.4	-	3	816	c.398T>A	c.(397-399)cTg>cAg	p.L133Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	133	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGAGGGGCCAGGTTTGCTGA	0.637																																																0													62	73	70					1																	153915526		1957	4140	6097	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.398T>A	chr1.hg19:g.153915526A>T	ENSP00000354597:p.Leu133Gln		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	hg19	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259272	0.80246	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.24908	1.83;1.83	4.69	4.69	0.59074	MABP domain (1);	.	.	.	.	T	0.36690	0.0976	L	0.61218	1.895	0.58432	D	0.999992	D	0.76494	0.999	D	0.68765	0.96	T	0.28004	-1.0057	9	0.87932	D	0	-3.5699	13.2559	0.60079	1.0:0.0:0.0:0.0	.	133	O75064	DEN4B_HUMAN	Q	133;144	ENSP00000354597:L133Q;ENSP00000357635:L144Q	ENSP00000354597:L133Q	L	-	2	0	DENND4B	152182150	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.891000	0.92485	1.946000	0.56461	0.460000	0.39030	CTG		0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		T	153915526	A	T	153915526	3	4	74	1	0	0	0	0	1	0	0	0	4436	188	7	5	4196	5	DENND4B	1	153915526	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08	3281151	153915526	95335095	7	5046											
FAM5C	339479	hgsc.bcm.edu	37	1	190068039	190068039	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:190068039G>C	ENST00000367462.3	-	8	1641	c.1410C>G	c.(1408-1410)agC>agG	p.S470R	BRINP3_ENST00000534846.1_Missense_Mutation_p.S368R	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	470					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AGAGCCCCTGGCTGAGCATGT	0.577																																																0													100	101	101					1																	190068039		2203	4300	6503	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1410C>G	chr1.hg19:g.190068039G>C	ENSP00000356432:p.Ser470Arg		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	hg19	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982421	0.18889	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.42131	0.98;0.98	5.75	3.56	0.40772	Epidermal growth factor-like (1);	0.146558	0.64402	D	0.000008	T	0.35219	0.0924	L	0.53249	1.67	0.45883	D	0.998734	P;P	0.43701	0.815;0.718	B;B	0.39258	0.295;0.154	T	0.12218	-1.0556	10	0.25751	T	0.34	-10.9852	11.0596	0.47940	0.177:0.0:0.823:0.0	.	368;470	B7Z260;Q76B58	.;FAM5C_HUMAN	R	470;368	ENSP00000356432:S470R;ENSP00000438022:S368R	ENSP00000356432:S470R	S	-	3	2	FAM5C	188334662	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	1.416000	0.34759	1.440000	0.47531	-0.229000	0.12294	AGC		0.577	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		C	190068039	G	C	190068039	3	2	74	1	0	0	0	0	1	0	0	0	5596	1194	42	4	894	4	FAM5C	1	190068039	Missense_Mutation	SNP	G	TCGA-A4-8310-01A-11D-2396-08	36152513	190068039	59182582	8	5047											
PCNXL2	80003	hgsc.bcm.edu	37	1	233190130	233190130	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:233190130T>C	ENST00000258229.9	-	25	4469	c.4235A>G	c.(4234-4236)aAc>aGc	p.N1412S	PCNXL2_ENST00000344698.2_Missense_Mutation_p.N64S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1412						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGAGCTGTAGTTGCCCCAACG	0.438																																																0													67	65	66					1																	233190130		1887	4122	6009	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4235A>G	chr1.hg19:g.233190130T>C	ENSP00000258229:p.Asn1412Ser		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	hg19	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437330	0.62955	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.24151	1.87;3.01	4.97	2.65	0.31530	.	0.042018	0.85682	D	0.000000	T	0.23846	0.0577	L	0.42487	1.325	0.80722	D	1	B;P	0.52692	0.434;0.955	B;P	0.45449	0.263;0.481	T	0.02705	-1.1121	10	0.87932	D	0	.	8.878	0.35356	0.0:0.154:0.0:0.846	.	1412;64	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	S	64;1412	ENSP00000340759:N64S;ENSP00000258229:N1412S	ENSP00000258229:N1412S	N	-	2	0	PCNXL2	231256753	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.826000	0.62715	0.862000	0.35528	0.533000	0.62120	AAC		0.438	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		C	233190130	T	C	233190130	3	2	74	1	0	0	0	0	1	0	0	0	11594	1725	60	3	2218	3	PCNXL2	1	233190130	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08	43122091	233190130	16060491	9	5048											
NCKAP5	344148	hgsc.bcm.edu	37	2	133721438	133721438	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:133721438T>G	ENST00000409261.1	-	8	807	c.434A>C	c.(433-435)aAg>aCg	p.K145T	NCKAP5_ENST00000409213.1_Missense_Mutation_p.K145T|NCKAP5_ENST00000317721.6_Missense_Mutation_p.K145T|NCKAP5_ENST00000405974.3_Missense_Mutation_p.K145T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	145										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCTGACAGCTTTTCCTGAAG	0.428																																																0													142	136	138					2																	133721438		1861	4093	5954	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.434A>C	chr2.hg19:g.133721438T>G	ENSP00000387128:p.Lys145Thr		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	hg19	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913961	0.33815	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834	T;T;T;T	0.48522	2.8;0.81;2.8;0.81	5.0	-0.271	0.12922	.	.	.	.	.	T	0.25717	0.0626	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24823	0.0;0.001;0.112	B;B;B	0.24394	0.002;0.003;0.053	T	0.17440	-1.0369	9	0.38643	T	0.18	.	4.4156	0.11454	0.0:0.1923:0.3253:0.4823	.	120;145;145	O14513-3;O14513-2;O14513	.;.;NCKP5_HUMAN	T	145;145;145;145;145;120	ENSP00000387128:K145T;ENSP00000386952:K145T;ENSP00000380603:K145T;ENSP00000385692:K145T	ENSP00000380603:K145T	K	-	2	0	NCKAP5	133437908	0.968000	0.33430	0.029000	0.17559	0.554000	0.35429	1.269000	0.33074	-0.107000	0.12088	-0.321000	0.08615	AAG		0.428	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		G	133721438	T	G	133721438	3	3	74	1	0	0	0	0	1	0	0	0	10225	1609	56	5	5347	5	NCKAP5	2	133721438	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08		133721438	109477935	10	5049											
ACMSD	130013	hgsc.bcm.edu	37	2	135659397	135659398	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:135659397_135659398insT	ENST00000356140.5	+	10	1114_1115	c.978_979insT	c.(979-981)tttfs	p.F327fs	AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000413962.1_RNA|ACMSD_ENST00000283054.4_Frame_Shift_Ins_p.F269fs|AC016725.4_ENST00000537615.1_RNA|ACMSD_ENST00000392928.1_Frame_Shift_Ins_p.F269fs|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	327					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		ATGCCCTGGCATTTTTGGGTCT	0.297																																																0																																										SO:0001589	frameshift_variant	130013			AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.983dupT	chr2.hg19:g.135659402_135659402dupT	ENSP00000348459:p.Phe327fs		Q3B7X3|Q53SR5|Q96KY2	Frame_Shift_Ins	INS	ENST00000356140.5	hg19	CCDS2173.2																																																																																				0.297	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			T	135659398	-	T	135659397	7	5	74	1	0	1	1	0	0	0	0	0	144	204	8	0	1016	0	ACMSD	2	135659397	Frame_Shift_Ins	INS	-	TCGA-A4-8310-01A-11D-2396-08	1937959	135659397	107539976	11	5050											
ACVR2A	92	hgsc.bcm.edu	37	2	148677893	148677893	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:148677893G>A	ENST00000241416.7	+	8	1693	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	ACVR2A_ENST00000535787.1_Missense_Mutation_p.A245T|ACVR2A_ENST00000404590.1_Missense_Mutation_p.A353T	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGGCAAGTCTGCAGGCGATAC	0.383																																																0													87	89	89					2																	148677893		2203	4300	6503	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1057G>A	chr2.hg19:g.148677893G>A	ENSP00000241416:p.Ala353Thr		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	hg19	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039512	0.55003	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.65732	-0.17;-0.17;-0.17	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38188	0.1031	N	0.02345	-0.59	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.26849	-1.0091	10	0.34782	T	0.22	.	15.113	0.72375	0.0:0.1411:0.8589:0.0	.	353	P27037	AVR2A_HUMAN	T	353;245;353	ENSP00000241416:A353T;ENSP00000439988:A245T;ENSP00000384338:A353T	ENSP00000241416:A353T	A	+	1	0	ACVR2A	148394363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.587000	0.67510	2.699000	0.92147	0.655000	0.94253	GCA		0.383	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		A	148677893	G	A	148677893	3	1	74	1	0	0	0	0	1	0	0	0	223	1319	46	2	1087	2	ACVR2A	2	148677893	Missense_Mutation	SNP	G	TCGA-A4-8310-01A-11D-2396-08	13018496	148677893	94521480	12	5051											
NEB	4703	hgsc.bcm.edu	37	2	152482148	152482148	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:152482148A>G	ENST00000172853.10	-	67	9770	c.9623T>C	c.(9622-9624)tTa>tCa	p.L3208S	NEB_ENST00000427231.2_Missense_Mutation_p.L3451S|NEB_ENST00000397345.3_Missense_Mutation_p.L3451S|NEB_ENST00000409198.1_Missense_Mutation_p.L3208S|NEB_ENST00000604864.1_Missense_Mutation_p.L3451S|NEB_ENST00000603639.1_Missense_Mutation_p.L3451S			P20929	NEBU_HUMAN	nebulin	3208					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTGTGTATAAGCGCTGTGA	0.358																																																0													74	67	69					2																	152482148		1835	4090	5925	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9623T>C	chr2.hg19:g.152482148A>G	ENSP00000172853:p.Leu3208Ser		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	hg19		.	.	.	.	.	.	.	.	.	.	A	18.62	3.662545	0.67700	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	4.98	4.98	0.66077	.	0.086330	0.48286	D	0.000195	T	0.66366	0.2782	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.70285	-0.4914	10	0.72032	D	0.01	.	14.6222	0.68594	1.0:0.0:0.0:0.0	.	3208	P20929	NEBU_HUMAN	S	3208;3451;3451;3208	ENSP00000386259:L3208S;ENSP00000380505:L3451S;ENSP00000416578:L3451S;ENSP00000172853:L3208S	ENSP00000172853:L3208S	L	-	2	0	NEB	152190394	0.060000	0.20803	1.000000	0.80357	0.993000	0.82548	2.165000	0.42396	1.996000	0.58369	0.455000	0.32223	TTA		0.358	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		G	152482148	A	G	152482148	3	3	74	1	0	0	0	0	1	0	0	0	10304	372	13	3	15782	3	NEB	2	152482148	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08	3804255	152482148	90717225	13	5052											
ICOS	29851	hgsc.bcm.edu	37	2	204822592	204822592	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:204822592A>C	ENST00000316386.6	+	4	639	c.572A>C	c.(571-573)aAa>aCa	p.K191T	ICOS_ENST00000435193.1_Intron	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	191					immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6						ACAGCCAAAAAATCTAGACTC	0.388																																																0													86	85	86					2																	204822592		2203	4300	6503	SO:0001583	missense	29851			AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"CD molecules"	5351	protein-coding gene	gene with protein product	"activation-inducible lymphocyte immunomediatory molecule"	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.572A>C	chr2.hg19:g.204822592A>C	ENSP00000319476:p.Lys191Thr		Q8N6W8	Missense_Mutation	SNP	ENST00000316386.6	hg19	CCDS2363.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.581135	0.65992	.	.	ENSG00000163600	ENST00000316386	.	.	.	5.73	3.24	0.37175	.	0.180516	0.37577	N	0.002037	T	0.41696	0.1170	M	0.72118	2.19	0.09310	N	0.999993	B;B	0.19583	0.037;0.037	B;B	0.17433	0.018;0.018	T	0.33979	-0.9847	9	0.30078	T	0.28	-32.144	5.7144	0.17952	0.6551:0.157:0.0:0.188	.	191;191	Q53QY6;Q9Y6W8	.;ICOS_HUMAN	T	191	.	ENSP00000319476:K191T	K	+	2	0	ICOS	204530837	0.794000	0.28838	0.002000	0.10522	0.508000	0.34012	1.387000	0.34430	0.383000	0.24910	0.383000	0.25322	AAA		0.388	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256369.1	NM_012092		C	204822592	A	C	204822592	3	2	74	1	0	0	0	0	1	0	0	0	7488	14	1	5	586	5	ICOS	2	204822592	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08	52340444	204822592	38376781	14	5053											
DNPEP	23549	hgsc.bcm.edu	37	2	220239739	220239739	+	Silent	SNP	G	G	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:220239739G>A	ENST00000273075.4	-	14	1465	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	DNPEP_ENST00000523282.1_Silent_p.L423L|DNPEP_ENST00000373972.1_Silent_p.L340L|DNPEP_ENST00000490371.1_5'UTR	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	405					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCGGACCATGAGATCCTAGG	0.582																																																0													54	57	56					2																	220239739		1995	4197	6192	SO:0001819	synonymous_variant	23549				CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1245C>T	chr2.hg19:g.220239739G>A			Q9BW44|Q9NUV5	Silent	SNP	ENST00000273075.4	hg19	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	G	9.087	1.000674	0.19121	.	.	ENSG00000123992	ENST00000337010	.	.	.	5.38	4.5	0.54988	.	.	.	.	.	T	0.72518	0.3470	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72830	-0.4174	4	.	.	.	-23.6962	16.3965	0.83607	0.0:0.1313:0.8686:0.0	.	.	.	.	L	415	.	.	S	-	2	0	DNPEP	219947983	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.609000	0.54117	1.492000	0.48499	0.655000	0.94253	TCA		0.582	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		A	220239739	G	A	220239739	2	1	74	1	0	0	0	0	0	0	0	1	4681	1277	45	2		2	DNPEP	2	220239739	Silent	SNP	G	TCGA-A4-8310-01A-11D-2396-08	15417147	220239739	22959634	15	5054											
GOLGB1	2804	hgsc.bcm.edu	37	3	121433805	121433805	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr3:121433805G>A	ENST00000340645.5	-	10	1417	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S436F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	431					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AATTTCTTTGGATTTTTGCTG	0.328																																																0													121	122	122					3																	121433805		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1292C>T	chr3.hg19:g.121433805G>A	ENSP00000341848:p.Ser431Phe		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	hg19	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.900|8.900	0.956079|0.956079	0.18507|0.18507	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	.|T;T;T	.|0.25414	.|2.39;2.39;1.8	4.95|4.95	2.09|2.09	0.27110|0.27110	.|.	.|0.423391	.|0.20726	.|N	.|0.086819	T|T	0.43787|0.43787	0.1263|0.1263	M|M	0.68317|0.68317	2.08|2.08	0.25739|0.25739	N|N	0.985181|0.985181	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999;1.0	.|D;D;D;D;D	.|0.87578	.|0.998;0.996;0.998;0.996;0.998	T|T	0.18053|0.18053	-1.0349|-1.0349	5|10	.|0.51188	.|T	.|0.08	.|.	8.2496|8.2496	0.31708|0.31708	0.0:0.3271:0.5037:0.1692|0.0:0.3271:0.5037:0.1692	.|.	.|356;395;436;436;431	.|F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.|.;.;.;.;GOGB1_HUMAN	S|F	302|431;436;395;243	.|ENSP00000341848:S431F;ENSP00000377275:S436F;ENSP00000418231:S395F	.|ENSP00000341848:S431F	P|S	-|-	1|2	0|0	GOLGB1|GOLGB1	122916495|122916495	0.949000|0.949000	0.32298|0.32298	0.256000|0.256000	0.24389|0.24389	0.478000|0.478000	0.33099|0.33099	1.453000|1.453000	0.35167|0.35167	0.231000|0.231000	0.21079|0.21079	-0.188000|-0.188000	0.12872|0.12872	CCA|TCC		0.328	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		A	121433805	G	A	121433805	3	1	74	1	0	0	0	0	1	0	0	0	6567	1174	41	2	8539	2	GOLGB1	3	121433805	Missense_Mutation	SNP	G	TCGA-A4-8310-01A-11D-2396-08		121433805	76588625	16	5055											
TNIP2	79155	hgsc.bcm.edu	37	4	2746482	2746482	+	Missense_Mutation	SNP	G	G	A	rs150823075		TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr4:2746482G>A	ENST00000315423.7	-	4	934	c.848C>T	c.(847-849)gCg>gTg	p.A283V	TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000510267.1_Missense_Mutation_p.A176V|TNIP2_ENST00000505186.1_5'UTR	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGGAGGCCGCCAGCTCCTG	0.607																																																0								G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	44	50	48		527,848	2.7	0.6	4	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TNIP2	NM_001161527.1,NM_024309.3	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	176/323,283/430	2746482	1,13005	2203	4300	6503	SO:0001583	missense	79155			BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.848C>T	chr4.hg19:g.2746482G>A	ENSP00000321203:p.Ala283Val			Missense_Mutation	SNP	ENST00000315423.7	hg19	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671911	0.29693	0.0	1.16E-4	ENSG00000168884	ENST00000510267;ENST00000315423	T;T	0.46063	0.88;0.88	5.66	2.71	0.32032	.	0.165365	0.52532	D	0.000076	T	0.24928	0.0605	L	0.35723	1.085	0.80722	D	1	P	0.35155	0.487	B	0.19666	0.026	T	0.05435	-1.0885	10	0.42905	T	0.14	-8.1276	7.0861	0.25257	0.0878:0.0:0.3927:0.5195	.	283	Q8NFZ5	TNIP2_HUMAN	V	176;283	ENSP00000427613:A176V;ENSP00000321203:A283V	ENSP00000321203:A283V	A	-	2	0	TNIP2	2716280	0.729000	0.28090	0.600000	0.28864	0.114000	0.19823	1.029000	0.30140	0.754000	0.32968	0.555000	0.69702	GCG		0.607	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		A	2746482	G	A	2746482	3	1	74	1	0	0	0	0	1	0	0	0	16320	1087	38	1	453	1	TNIP2	4	2746482	Missense_Mutation	SNP	G	TCGA-A4-8310-01A-11D-2396-08		2746482	188407794	17	5056											
DCUN1D4	23142	hgsc.bcm.edu	37	4	52765463	52765463	+	Silent	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr4:52765463T>C	ENST00000334635.5	+	8	714	c.534T>C	c.(532-534)aaT>aaC	p.N178N	DCUN1D4_ENST00000381441.3_Silent_p.N178N|DCUN1D4_ENST00000451288.2_Silent_p.N222N|DCUN1D4_ENST00000381437.4_Silent_p.N118N	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	178	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AACTCAGAAATACTTTGGATT	0.299																																																0													39	41	41					4																	52765463		2201	4297	6498	SO:0001819	synonymous_variant	23142			D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.534T>C	chr4.hg19:g.52765463T>C			B4DH25|Q7Z3F3|Q7Z6B8	Silent	SNP	ENST00000334635.5	hg19	CCDS33982.1																																																																																				0.299	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		C	52765463	T	C	52765463	2	2	74	1	0	0	0	0	0	0	0	1	4318	1403	49	3		3	DCUN1D4	4	52765463	Silent	SNP	T	TCGA-A4-8310-01A-11D-2396-08	50018981	52765463	138388813	18	5057											
HMGB2	3148	hgsc.bcm.edu	37	4	174254247	174254247	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr4:174254247T>C	ENST00000296503.5	-	3	1142	c.269A>G	c.(268-270)aAg>aGg	p.K90R	HMGB2_ENST00000438704.2_Missense_Mutation_p.K90R|HMGB2_ENST00000446922.2_Missense_Mutation_p.K90R			P26583	HMGB2_HUMAN	high mobility group box 2	90					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.K90R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ATTGGGGTCCTTTTTCTTCCC	0.398																																																1	Substitution - Missense(1)	endometrium(1)											222	233	229					4																	174254247		2203	4300	6503	SO:0001583	missense	3148				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.269A>G	chr4.hg19:g.174254247T>C	ENSP00000296503:p.Lys90Arg		B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	hg19	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451760	0.43531	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	5.06	5.06	0.68205	High mobility group, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.96883	0.8982	M	0.81802	2.56	0.58432	D	0.99999	P	0.48350	0.909	D	0.65987	0.94	D	0.96930	0.9680	10	0.51188	T	0.08	.	14.1447	0.65344	0.0:0.0:0.0:1.0	.	90	P26583	HMGB2_HUMAN	R	90	ENSP00000296503:K90R;ENSP00000393448:K90R;ENSP00000404912:K90R;ENSP00000423001:K90R	ENSP00000296503:K90R	K	-	2	0	HMGB2	174490822	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	7.626000	0.83164	2.122000	0.65172	0.460000	0.39030	AAG		0.398	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		C	174254247	T	C	174254247	3	2	74	1	0	0	0	0	1	0	0	0	7228	1609	56	3	372	3	HMGB2	4	174254247	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08	121488784	174254247	16900029	19	5058											
SNX25	83891	hgsc.bcm.edu	37	4	186188140	186188140	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr4:186188140G>A	ENST00000504273.1	+	5	724	c.430G>A	c.(430-432)Gag>Aag	p.E144K	SNX25_ENST00000264694.8_Missense_Mutation_p.E144K			Q9H3E2	SNX25_HUMAN	sorting nexin 25	144	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.E144Q(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GCCGGTAGTGGAGTTACTGAG	0.423																																																1	Substitution - Missense(1)	lung(1)											78	72	74					4																	186188140		2203	4300	6503	SO:0001583	missense	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.430G>A	chr4.hg19:g.186188140G>A	ENSP00000426255:p.Glu144Lys		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	hg19	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860679	0.51482	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.10192	2.9;2.9	5.16	4.32	0.51571	Phox-associated domain (2);	0.188926	0.44688	D	0.000437	T	0.14227	0.0344	L	0.53249	1.67	0.42561	D	0.993145	P	0.35493	0.505	B	0.38803	0.282	T	0.04140	-1.0974	10	0.36615	T	0.2	-5.5611	13.8858	0.63708	0.0734:0.0:0.9266:0.0	.	144	Q9H3E2	SNX25_HUMAN	K	144	ENSP00000426255:E144K;ENSP00000264694:E144K	ENSP00000264694:E144K	E	+	1	0	SNX25	186425134	1.000000	0.71417	0.427000	0.26684	0.993000	0.82548	7.437000	0.80417	1.402000	0.46780	0.591000	0.81541	GAG		0.423	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		A	186188140	G	A	186188140	3	1	74	1	0	0	0	0	1	0	0	0	14902	1175	41	2	444	2	SNX25	4	186188140	Missense_Mutation	SNP	G	TCGA-A4-8310-01A-11D-2396-08	11933893	186188140	4966136	20	5059											
CLPTM1L	81037	hgsc.bcm.edu	37	5	1323010	1323010	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:1323010T>C	ENST00000320895.5	-	13	1554	c.1297A>G	c.(1297-1299)Atc>Gtc	p.I433V	CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.I264V|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.I397V	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	433					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		AAGCTGTTGATTAACCAGGAG	0.388																																																0													152	150	151					5																	1323010		2203	4300	6503	SO:0001583	missense	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1297A>G	chr5.hg19:g.1323010T>C	ENSP00000313854:p.Ile433Val		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	hg19	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.947015	0.34377	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.51817	0.69;0.8;0.78	4.58	3.39	0.38822	.	0.047837	0.85682	D	0.000000	T	0.32556	0.0833	N	0.26042	0.785	0.54753	D	0.999983	B;B	0.06786	0.001;0.001	B;B	0.14023	0.005;0.01	T	0.07009	-1.0795	10	0.35671	T	0.21	-39.5635	9.5543	0.39328	0.0:0.087:0.0:0.913	.	433;264	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	V	433;264;397	ENSP00000313854:I433V;ENSP00000423321:I264V;ENSP00000315196:I397V	ENSP00000313854:I433V	I	-	1	0	CLPTM1L	1376010	1.000000	0.71417	0.825000	0.32803	0.932000	0.56968	4.256000	0.58810	0.694000	0.31654	0.402000	0.26972	ATC		0.388	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		C	1323010	T	C	1323010	3	2	74	1	0	0	0	0	1	0	0	0	3557	1493	52	3	339	3	CLPTM1L	5	1323010	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08		1323010	179592250	21	5060											
ADAMTS16	170690	hgsc.bcm.edu	37	5	5240027	5240027	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:5240027C>G	ENST00000274181.7	+	16	2650	c.2512C>G	c.(2512-2514)Ctg>Gtg	p.L838V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	838	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAACGAGACACTGATTGTGGA	0.478																																																0													86	83	84					5																	5240027		1878	4117	5995	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2512C>G	chr5.hg19:g.5240027C>G	ENSP00000274181:p.Leu838Val		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325582	0.41197	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.61742	0.08	5.56	3.45	0.39498	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000013	T	0.70325	0.3211	M	0.62266	1.93	0.48452	D	0.999658	D;D	0.89917	1.0;0.991	D;D	0.87578	0.998;0.919	T	0.69450	-0.5142	10	0.36615	T	0.2	.	12.5248	0.56079	0.0:0.8343:0.0:0.1657	.	838;838	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	V	838	ENSP00000274181:L838V	ENSP00000274181:L838V	L	+	1	2	ADAMTS16	5293027	0.864000	0.29904	0.134000	0.22075	0.299000	0.27559	1.676000	0.37565	1.352000	0.45808	0.655000	0.94253	CTG		0.478	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		G	5240027	C	G	5240027	3	3	74	1	0	0	0	0	1	0	0	0	261	564	20	4	2574	4	ADAMTS16	5	5240027	Missense_Mutation	SNP	C	TCGA-A4-8310-01A-11D-2396-08	3917017	5240027	175675233	22	5061											
PDZD2	23037	hgsc.bcm.edu	37	5	32059458	32059458	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:32059458C>A	ENST00000438447.1	+	13	2702	c.2314C>A	c.(2314-2316)Ctg>Atg	p.L772M	PDZD2_ENST00000282493.3_Missense_Mutation_p.L772M			O15018	PDZD2_HUMAN	PDZ domain containing 2	772	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAGAGCAACCTGAGGTTTGT	0.448																																																0													102	88	93					5																	32059458		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2314C>A	chr5.hg19:g.32059458C>A	ENSP00000402033:p.Leu772Met		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	hg19	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930044	0.73327	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.50001	0.76;0.76	5.79	3.98	0.46160	PDZ/DHR/GLGF (4);	0.000000	0.36268	N	0.002696	T	0.71896	0.3394	M	0.91249	3.19	0.40854	D	0.983775	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77292	-0.2642	10	0.72032	D	0.01	.	10.7091	0.45973	0.0:0.8633:0.0:0.1367	.	598;772	B4E3P2;O15018	.;PDZD2_HUMAN	M	772;591;772	ENSP00000402033:L772M;ENSP00000282493:L772M	ENSP00000282493:L772M	L	+	1	2	PDZD2	32095215	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.741000	0.47426	2.726000	0.93360	0.655000	0.94253	CTG		0.448	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			A	32059458	C	A	32059458	3	1	74	1	0	0	0	0	1	0	0	0	11703	680	24	4	2360	4	PDZD2	5	32059458	Missense_Mutation	SNP	C	TCGA-A4-8310-01A-11D-2396-08	26819431	32059458	148855802	23	5062											
C5orf42	65250	hgsc.bcm.edu	37	5	37181023	37181023	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:37181023C>T	ENST00000508244.1	-	26	5599	c.5506G>A	c.(5506-5508)Gta>Ata	p.V1836I	C5orf42_ENST00000274258.7_Missense_Mutation_p.V717I|C5orf42_ENST00000425232.2_Missense_Mutation_p.V1836I			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1836						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGAGTTGCTACTGCAACTGAA	0.403																																																0													72	67	69					5																	37181023		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5506G>A	chr5.hg19:g.37181023C>T	ENSP00000421690:p.Val1836Ile		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078569	0.36662	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.91	1.94	0.25998	.	2.430320	0.01888	N	0.038363	T	0.19604	0.0471	L	0.40543	1.245	0.09310	N	1	P;B	0.34724	0.465;0.386	B;B	0.31101	0.124;0.124	T	0.29119	-1.0022	10	0.26408	T	0.33	.	9.6655	0.39981	0.0:0.5185:0.4071:0.0744	.	1836;717	E9PH94;Q9H799	.;CE042_HUMAN	I	1836;1836;717;884;717	ENSP00000421690:V1836I;ENSP00000389014:V1836I;ENSP00000274258:V717I;ENSP00000424223:V884I	ENSP00000274258:V717I	V	-	1	0	C5orf42	37216780	0.021000	0.18746	0.000000	0.03702	0.019000	0.09904	0.036000	0.13819	0.067000	0.16545	0.655000	0.94253	GTA		0.403	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		T	37181023	C	T	37181023	3	4	74	1	0	0	0	0	1	0	0	0	2303	565	20	2	4191	2	C5orf42	5	37181023	Missense_Mutation	SNP	C	TCGA-A4-8310-01A-11D-2396-08	5121565	37181023	143734237	24	5063											
DAB2	1601	hgsc.bcm.edu	37	5	39390645	39390645	+	Silent	SNP	A	A	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:39390645A>G	ENST00000320816.6	-	5	830	c.363T>C	c.(361-363)atT>atC	p.I121I	DAB2_ENST00000545653.1_Silent_p.I121I|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000509337.1_Silent_p.I121I|DAB2_ENST00000339788.6_Silent_p.I121I	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	121	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CAATGAAAGAAATCTTATTTA	0.398																																																0													74	78	76					5																	39390645		2203	4300	6503	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.363T>C	chr5.hg19:g.39390645A>G			A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	hg19	CCDS34149.1																																																																																				0.398	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		G	39390645	A	G	39390645	2	3	74	1	0	0	0	0	0	0	0	1	4220	10	1	3		3	DAB2	5	39390645	Silent	SNP	A	TCGA-A4-8310-01A-11D-2396-08	2209622	39390645	141524615	25	5064											
DAB2	1601	hgsc.bcm.edu	37	5	39394411	39394411	+	Silent	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:39394411T>C	ENST00000320816.6	-	2	479	c.12A>G	c.(10-12)gaA>gaG	p.E4E	DAB2_ENST00000545653.1_Silent_p.E4E|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000509337.1_Silent_p.E4E|DAB2_ENST00000339788.6_Silent_p.E4E	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	4					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGTTTCTACTTCGTTAGACA	0.478																																																0													147	131	137					5																	39394411		2203	4300	6503	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.12A>G	chr5.hg19:g.39394411T>C			A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	hg19	CCDS34149.1																																																																																				0.478	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		C	39394411	T	C	39394411	2	2	74	1	0	0	0	0	0	0	0	1	4220	1606	56	3		3	DAB2	5	39394411	Silent	SNP	T	TCGA-A4-8310-01A-11D-2396-08	3766	39394411	141520849	26	5065											
PLK2	10769	hgsc.bcm.edu	37	5	57753133	57753133	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:57753133C>T	ENST00000274289.3	-	7	1183	c.883G>A	c.(883-885)Gca>Aca	p.A295T	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GTATACCTTGCTTCCCTTATG	0.433																																																0													79	76	77					5																	57753133		2203	4300	6503	SO:0001583	missense	10769				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.883G>A	chr5.hg19:g.57753133C>T	ENSP00000274289:p.Ala295Thr		O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	hg19	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479369	0.96307	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.64618	-0.11	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	L	0.33624	1.015	0.80722	D	1	D	0.64830	0.994	D	0.65140	0.932	T	0.69363	-0.5165	10	0.40728	T	0.16	-15.6861	18.9292	0.92558	0.0:1.0:0.0:0.0	.	295	Q9NYY3	PLK2_HUMAN	T	295;295;281	ENSP00000274289:A295T	ENSP00000274289:A295T	A	-	1	0	PLK2	57788890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.388000	0.79795	2.461000	0.83175	0.655000	0.94253	GCA		0.433	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		T	57753133	C	T	57753133	3	4	74	1	0	0	0	0	1	0	0	0	12098	797	28	2	1206	2	PLK2	5	57753133	Missense_Mutation	SNP	C	TCGA-A4-8310-01A-11D-2396-08	18358722	57753133	123162127	27	5066											
FBN2	2201	hgsc.bcm.edu	37	5	127641530	127641530	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:127641530G>C	ENST00000508053.1	-	49	6507	c.5533C>G	c.(5533-5535)Ctg>Gtg	p.L1845V	FBN2_ENST00000262464.4_Missense_Mutation_p.L1845V			P35556	FBN2_HUMAN	fibrillin 2	1845	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAAACCAACAGCAGGTCATTG	0.363																																																0													123	118	120					5																	127641530		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5533C>G	chr5.hg19:g.127641530G>C	ENSP00000424571:p.Leu1845Val		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	hg19	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015309	0.75161	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.95554	-3.74;-3.74	5.24	5.24	0.73138	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000045	D	0.95548	0.8553	L	0.50333	1.59	0.35026	D	0.758342	D	0.55605	0.972	P	0.54346	0.749	D	0.94672	0.7857	10	0.16896	T	0.51	.	19.3745	0.94503	0.0:0.0:1.0:0.0	.	1845	P35556	FBN2_HUMAN	V	1845	ENSP00000262464:L1845V;ENSP00000424571:L1845V	ENSP00000262464:L1845V	L	-	1	2	FBN2	127669429	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.312000	0.72840	2.880000	0.98712	0.650000	0.86243	CTG		0.363	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		C	127641530	G	C	127641530	3	2	74	1	0	0	0	0	1	0	0	0	5705	962	34	4	3297	4	FBN2	5	127641530	Missense_Mutation	SNP	G	TCGA-A4-8310-01A-11D-2396-08	69888397	127641530	53273730	28	5067											
RUFY1	80230	hgsc.bcm.edu	37	5	178987050	178987050	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:178987050A>G	ENST00000319449.4	+	2	347	c.335A>G	c.(334-336)gAg>gGg	p.E112G	RUFY1_ENST00000377001.2_Missense_Mutation_p.E112G|RUFY1_ENST00000437570.2_Missense_Mutation_p.E4G|RUFY1_ENST00000393438.2_Missense_Mutation_p.E4G	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	112					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGATGGAGGAGCGTGCCAAC	0.597										HNSCC(44;0.11)																																						0													82	59	67					5																	178987050		2203	4300	6503	SO:0001583	missense	80230			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.335A>G	chr5.hg19:g.178987050A>G	ENSP00000325594:p.Glu112Gly		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	hg19	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.405080|5.405080	0.96051|0.96051	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438|ENST00000502984	T;T;T;T|.	0.12984|.	2.63;2.63;2.63;2.63|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.098275|.	0.64402|.	D|.	0.000002|.	T|T	0.77082|0.77082	0.4078|0.4078	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.78663|0.78663	-0.2116|-0.2116	10|5	0.87932|.	D|.	0|.	-27.8219|-27.8219	15.7239|15.7239	0.77736|0.77736	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	112|.	Q96T51|.	RUFY1_HUMAN|.	G|G	112;112;4;4|70	ENSP00000325594:E112G;ENSP00000366200:E112G;ENSP00000390025:E4G;ENSP00000377087:E4G|.	ENSP00000325594:E112G|.	E|S	+|+	2|1	0|0	RUFY1|RUFY1	178919656|178919656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.223000|7.223000	0.78033|0.78033	2.128000|2.128000	0.65567|0.65567	0.459000|0.459000	0.35465|0.35465	GAG|AGC		0.597	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		G	178987050	A	G	178987050	3	3	74	1	0	0	0	0	1	0	0	0	13744	304	11	3	341	3	RUFY1	5	178987050	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08	51345520	178987050	1928210	29	5068											
DDAH2	23564	hgsc.bcm.edu	37	6	31696435	31696435	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr6:31696435C>T	ENST00000375789.2	-	2	1015	c.385G>A	c.(385-387)Gtt>Att	p.V129I	DDAH2_ENST00000375792.3_Missense_Mutation_p.V129I|DDAH2_ENST00000375787.2_Missense_Mutation_p.V129I|DDAH2_ENST00000480913.1_5'UTR			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	129					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GTGAAGAGAACGTCAGTGCCA	0.572																																																0													71	55	61					6																	31696435		1511	2709	4220	SO:0001583	missense	23564			AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.385G>A	chr6.hg19:g.31696435C>T	ENSP00000364945:p.Val129Ile		A2BEZ7	Missense_Mutation	SNP	ENST00000375789.2	hg19	CCDS4718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.08|13.08	2.130498|2.130498	0.37630|0.37630	.|.	.|.	ENSG00000213722|ENSG00000213722	ENST00000437288|ENST00000375789;ENST00000375787;ENST00000375792;ENST00000416410;ENST00000436437	.|.	.|.	.|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|0.130895	.|0.50627	.|D	.|0.000101	T|T	0.32041|0.32041	0.0816|0.0816	L|L	0.45051|0.45051	1.395|1.395	0.40188|0.40188	D|D	0.977377|0.977377	.|B	.|0.33477	.|0.413	.|B	.|0.31290	.|0.127	T|T	0.28808|0.28808	-1.0032|-1.0032	5|9	.|0.38643	.|T	.|0.18	-22.272|-22.272	9.2267|9.2267	0.37412|0.37412	0.0:0.9044:0.0:0.0956|0.0:0.9044:0.0:0.0956	.|.	.|129	.|O95865	.|DDAH2_HUMAN	H|I	34|129	.|.	.|ENSP00000364943:V129I	R|V	-|-	2|1	0|0	DDAH2|DDAH2	31804414|31804414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	3.286000|3.286000	0.51724|0.51724	2.585000|2.585000	0.87301|0.87301	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.572	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2			T	31696435	C	T	31696435	3	4	74	1	0	0	0	0	1	0	0	0	4324	536	19	1	492	1	DDAH2	6	31696435	Missense_Mutation	SNP	C	TCGA-A4-8310-01A-11D-2396-08		31696435	139418632	30	5069											
DAXX	1616	hgsc.bcm.edu	37	6	33287891	33287891	+	Silent	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr6:33287891T>C	ENST00000374542.5	-	5	1566	c.1362A>G	c.(1360-1362)gaA>gaG	p.E454E	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Silent_p.E379E|DAXX_ENST00000266000.6_Silent_p.E454E|DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	454	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cctcctcctcttcttcttcct	0.552			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													135	104	114					6																	33287891		2203	4300	6503	SO:0001819	synonymous_variant	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1362A>G	chr6.hg19:g.33287891T>C			B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	hg19	CCDS4776.1																																																																																				0.552	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			C	33287891	T	C	33287891	2	2	74	1	0	0	0	0	0	0	0	1	4245	1606	56	3		3	DAXX	6	33287891	Silent	SNP	T	TCGA-A4-8310-01A-11D-2396-08	1591456	33287891	137827176	31	5070											
GSTA1	2938	hgsc.bcm.edu	37	6	52658943	52658943	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr6:52658943A>G	ENST00000334575.5	-	5	549	c.394T>C	c.(394-396)Tac>Cac	p.Y132H	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	132	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GCAGGGAAGTAGCGATTTTTT	0.433																																																0													249	246	247					6																	52658943		2203	4300	6503	SO:0001583	missense	2938				CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"Glutathione S-transferases / Soluble"	4626	protein-coding gene	gene with protein product		138359	"glutathione S-transferase A1"			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.394T>C	chr6.hg19:g.52658943A>G	ENSP00000335620:p.Tyr132His		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	hg19	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	a	13.85	2.359274	0.41801	.	.	ENSG00000243955	ENST00000334575	T	0.02103	4.45	2.58	2.58	0.30949	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.157818	0.43579	D	0.000559	T	0.04679	0.0127	M	0.76727	2.345	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.12811	-1.0533	10	0.87932	D	0	.	9.4793	0.38891	1.0:0.0:0.0:0.0	.	132	P08263	GSTA1_HUMAN	H	132	ENSP00000335620:Y132H	ENSP00000335620:Y132H	Y	-	1	0	GSTA1	52766902	0.951000	0.32395	0.003000	0.11579	0.017000	0.09413	5.478000	0.66806	0.928000	0.37168	0.164000	0.16699	TAC		0.433	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			G	52658943	A	G	52658943	3	3	74	1	0	0	0	0	1	0	0	0	6832	420	15	3	286	3	GSTA1	6	52658943	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08	19371052	52658943	118456124	32	5071											
IBTK	25998	hgsc.bcm.edu	37	6	82904254	82904254	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr6:82904254T>G	ENST00000306270.7	-	23	3829	c.3280A>C	c.(3280-3282)Att>Ctt	p.I1094L	IBTK_ENST00000503631.1_Missense_Mutation_p.I893L|IBTK_ENST00000510291.1_Missense_Mutation_p.I1079L	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1094					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTACTGGGAATAGGCTGTGGA	0.368																																																0													92	95	94					6																	82904254		2203	4300	6503	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3280A>C	chr6.hg19:g.82904254T>G	ENSP00000305721:p.Ile1094Leu		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	hg19	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873221	0.72180	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.38240	1.63;1.15;1.6	5.3	4.14	0.48551	.	0.226344	0.45126	D	0.000398	T	0.41511	0.1162	M	0.66939	2.045	0.45541	D	0.998499	P;P;D;D;P	0.69078	0.677;0.937;0.997;0.962;0.937	B;P;D;P;P	0.83275	0.243;0.506;0.996;0.701;0.506	T	0.30563	-0.9974	10	0.23302	T	0.38	-15.758	11.0232	0.47730	0.0:0.0732:0.0:0.9268	.	893;1079;45;1094;1094	E9PDR5;E7EPI0;B3KX60;Q9P2D0-2;Q9P2D0	.;.;.;.;IBTK_HUMAN	L	1094;893;1079	ENSP00000305721:I1094L;ENSP00000422762:I893L;ENSP00000426405:I1079L	ENSP00000305721:I1094L	I	-	1	0	IBTK	82960973	1.000000	0.71417	0.992000	0.48379	0.918000	0.54935	3.615000	0.54167	0.963000	0.38082	0.482000	0.46254	ATT		0.368	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		G	82904254	T	G	82904254	3	3	74	1	0	0	0	0	1	0	0	0	7478	1406	49	5	809	5	IBTK	6	82904254	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08	30245311	82904254	88210813	33	5072											
KLHL32	114792	hgsc.bcm.edu	37	6	97562031	97562031	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr6:97562031G>T	ENST00000369261.4	+	7	1363	c.1000G>T	c.(1000-1002)Gtg>Ttg	p.V334L	KLHL32_ENST00000536676.1_Missense_Mutation_p.V298L|KLHL32_ENST00000539200.1_Missense_Mutation_p.V265L|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	334										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TCCCATGCCTGTGGGAAGGAG	0.562																																																0													88	84	85					6																	97562031		2203	4300	6503	SO:0001583	missense	114792			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1000G>T	chr6.hg19:g.97562031G>T	ENSP00000358265:p.Val334Leu		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	hg19	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750577	0.49257	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.65916	-0.18;-0.18;-0.18	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.173711	0.52532	D	0.000077	T	0.48187	0.1486	M	0.64997	1.995	0.80722	D	1	B;B;B;B	0.11235	0.001;0.002;0.001;0.004	B;B;B;B	0.12156	0.001;0.003;0.004;0.007	T	0.48703	-0.9012	10	0.45353	T	0.12	.	14.5444	0.68017	0.0719:0.0:0.9281:0.0	.	265;298;334;334	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	L	334;298;265	ENSP00000358265:V334L;ENSP00000440382:V298L;ENSP00000441527:V265L	ENSP00000358265:V334L	V	+	1	0	KLHL32	97668752	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	4.839000	0.62810	2.763000	0.94921	0.655000	0.94253	GTG		0.562	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		T	97562031	G	T	97562031	3	4	74	1	0	0	0	0	1	0	0	0	8388	1377	48	4	1022	4	KLHL32	6	97562031	Missense_Mutation	SNP	G	TCGA-A4-8310-01A-11D-2396-08	14657777	97562031	73553036	34	5073											
RGS17	26575	hgsc.bcm.edu	37	6	153332802	153332802	+	Silent	SNP	A	A	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr6:153332802A>T	ENST00000367225.2	-	4	564	c.540T>A	c.(538-540)acT>acA	p.T180T	RGS17_ENST00000206262.1_Silent_p.T180T			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	180	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TGTGCATTAAAGTATATATCT	0.353																																					Esophageal Squamous(78;500 1236 6775 24364 49058)											0													59	60	59					6																	153332802		2203	4300	6503	SO:0001819	synonymous_variant	26575			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"Regulators of G-protein signaling"	14088	protein-coding gene	gene with protein product		607191	"regulator of G-protein signalling 17"			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.540T>A	chr6.hg19:g.153332802A>T			Q5TF49|Q8TD61|Q9UJS8	Silent	SNP	ENST00000367225.2	hg19	CCDS5244.1																																																																																				0.353	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			T	153332802	A	T	153332802	2	4	74	1	0	0	0	0	0	0	0	1	13305	59	3	5		5	RGS17	6	153332802	Silent	SNP	A	TCGA-A4-8310-01A-11D-2396-08	55770771	153332802	17782265	35	5074											
PPIA	5478	hgsc.bcm.edu	37	7	44839397	44839397	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr7:44839397G>T	ENST00000468812.1	+	4	331	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	PPIA_ENST00000355968.6_Missense_Mutation_p.G36C|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_Missense_Mutation_p.G96C|PPIA_ENST00000489459.1_Missense_Mutation_p.G36C	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	96	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	TACGGGTCCTGGCATCTTGTC	0.483																																					Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)											0													85	81	82					7																	44839397		2203	4298	6501	SO:0001583	missense	5478			X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	ENST00000468812.1:c.286G>T	chr7.hg19:g.44839397G>T	ENSP00000419425:p.Gly96Cys		A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	Missense_Mutation	SNP	ENST00000468812.1	hg19	CCDS5494.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909500	0.92107	.	.	ENSG00000196262	ENST00000451562;ENST00000468812;ENST00000489459;ENST00000355968;ENST00000244636	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.24	5.24	0.73138	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	U	0.000000	D	0.83027	0.5165	H	0.99425	4.56	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	D	0.90988	0.4833	10	0.87932	D	0	.	18.4613	0.90739	0.0:0.0:1.0:0.0	.	96	P62937	PPIA_HUMAN	C	96;96;36;36;36	ENSP00000405975:G96C;ENSP00000419425:G96C;ENSP00000427976:G36C;ENSP00000430817:G36C	ENSP00000442606:G36C	G	+	1	0	PPIA	44805922	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.601000	0.98297	2.449000	0.82847	0.563000	0.77884	GGC		0.483	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251293.1	NM_021130		T	44839397	G	T	44839397	3	4	74	1	0	0	0	0	1	0	0	0	12318	1348	47	4	300	4	PPIA	7	44839397	Missense_Mutation	SNP	G	TCGA-A4-8310-01A-11D-2396-08		44839397	114299266	36	5075											
SLC7A2	6542	hgsc.bcm.edu	37	8	17419589	17419589	+	Silent	SNP	G	G	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr8:17419589G>A	ENST00000494857.1	+	11	1859	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q	SLC7A2_ENST00000004531.10_Silent_p.Q587Q|SLC7A2_ENST00000522656.1_Silent_p.Q547Q|SLC7A2_ENST00000398090.3_Silent_p.Q586Q|SLC7A2_ENST00000470360.1_Silent_p.Q586Q	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	547			Q -> L (in dbSNP:rs1981498).		amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTGGAGGCAGCCCCAGAATC	0.468																																																0													89	79	83					8																	17419589		2203	4300	6503	SO:0001819	synonymous_variant	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1641G>A	chr8.hg19:g.17419589G>A			B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	hg19	CCDS34852.1																																																																																				0.468	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		A	17419589	G	A	17419589	2	1	74	1	0	0	0	0	0	0	0	1	14703	962	34	2		2	SLC7A2	8	17419589	Silent	SNP	G	TCGA-A4-8310-01A-11D-2396-08		17419589	128944433	37	5076											
KIAA0196	9897	hgsc.bcm.edu	37	8	126085409	126085409	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr8:126085409T>G	ENST00000318410.7	-	9	1485	c.1136A>C	c.(1135-1137)cAt>cCt	p.H379P	KIAA0196_ENST00000517845.1_Missense_Mutation_p.H231P	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	379					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GTCTGCTGTATGAAGCATCAG	0.448																																																0													117	101	106					8																	126085409		2203	4300	6503	SO:0001583	missense	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1136A>C	chr8.hg19:g.126085409T>G	ENSP00000318016:p.His379Pro		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	hg19	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178175	0.78564	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.89552	-2.53;-2.53	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95211	0.8447	M	0.87971	2.92	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	D	0.95703	0.8751	10	0.87932	D	0	-28.8795	16.8222	0.85835	0.0:0.0:0.0:1.0	.	379	Q12768	STRUM_HUMAN	P	379;231	ENSP00000318016:H379P;ENSP00000429676:H231P	ENSP00000318016:H379P	H	-	2	0	KIAA0196	126154591	1.000000	0.71417	0.164000	0.22755	0.692000	0.40212	7.950000	0.87804	2.371000	0.80710	0.533000	0.62120	CAT		0.448	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		G	126085409	T	G	126085409	3	3	74	1	0	0	0	0	1	0	0	0	8163	1464	51	5	2427	5	KIAA0196	8	126085409	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08	108665820	126085409	20278613	38	5077											
ADCY8	114	hgsc.bcm.edu	37	8	132052526	132052526	+	Silent	SNP	G	G	A	rs529228094	byFrequency	TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr8:132052526G>A	ENST00000286355.5	-	1	2146	c.54C>T	c.(52-54)atC>atT	p.I18I	ADCY8_ENST00000377928.3_Silent_p.I18I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	18					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCGTCGGGTGGATGGTGTAGA	0.697										HNSCC(32;0.087)																																						0													5	6	5					8																	132052526		2067	4086	6153	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.54C>T	chr8.hg19:g.132052526G>A				Silent	SNP	ENST00000286355.5	hg19	CCDS6363.1																																																																																				0.697	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			A	132052526	G	A	132052526	2	1	74	1	0	0	0	0	0	0	0	1	300	1164	41	2		2	ADCY8	8	132052526	Silent	SNP	G	TCGA-A4-8310-01A-11D-2396-08	5967117	132052526	14311496	39	5078											
CYP11B1	1584	hgsc.bcm.edu	37	8	143957217	143957217	+	Silent	SNP	G	G	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr8:143957217G>A	ENST00000292427.4	-	6	1064	c.1032C>T	c.(1030-1032)agC>agT	p.S344S	CYP11B1_ENST00000377675.3_Silent_p.S415S|CYP11B1_ENST00000517471.1_Silent_p.S344S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	344					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CGGCGGCCAGGCTCTCCTGGC	0.652									Familial Hyperaldosteronism type I																																							0													70	73	72					8																	143957217		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1032C>T	chr8.hg19:g.143957217G>A			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	hg19	CCDS6392.1																																																																																				0.652	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			A	143957217	G	A	143957217	2	1	74	1	0	0	0	0	0	0	0	1	4147	1194	42	2		2	CYP11B1	8	143957217	Silent	SNP	G	TCGA-A4-8310-01A-11D-2396-08	11904691	143957217	2406805	40	5079											
NFX1	4799	hgsc.bcm.edu	37	9	33307212	33307212	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr9:33307212T>C	ENST00000379540.3	+	5	1353	c.1291T>C	c.(1291-1293)Tgg>Cgg	p.W431R	NFX1_ENST00000379521.4_Missense_Mutation_p.W431R|NFX1_ENST00000318524.6_Missense_Mutation_p.W431R	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	431					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GAATCCTGAGTGGAGCAGAAA	0.413																																																0													148	147	147					9																	33307212		2203	4300	6503	SO:0001583	missense	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1291T>C	chr9.hg19:g.33307212T>C	ENSP00000368856:p.Trp431Arg		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	hg19	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.223848	0.79576	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.12879	2.64;2.64;2.64	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.48642	1.525	0.58432	D	0.999999	D;D;P;D;B	0.76494	0.999;0.998;0.459;0.997;0.39	D;D;B;D;B	0.71414	0.973;0.926;0.218;0.966;0.176	T	0.00975	-1.1494	10	0.33940	T	0.23	-5.1452	13.5049	0.61479	0.0:0.0:0.0:1.0	.	431;315;431;431;431	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	R	431	ENSP00000368856:W431R;ENSP00000368836:W431R;ENSP00000317695:W431R	ENSP00000317695:W431R	W	+	1	0	NFX1	33297212	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.751000	0.85126	2.092000	0.63282	0.477000	0.44152	TGG		0.413	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			C	33307212	T	C	33307212	3	2	74	1	0	0	0	0	1	0	0	0	10389	1696	59	3	1309	3	NFX1	9	33307212	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08		33307212	107906219	41	5080											
HNRNPK	3190	hgsc.bcm.edu	37	9	86587099	86587099	+	Silent	SNP	G	G	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr9:86587099G>T	ENST00000376264.2	-	11	909	c.651C>A	c.(649-651)ccC>ccA	p.P217P	HNRNPK_ENST00000376263.3_Silent_p.P217P|HNRNPK_ENST00000351839.3_Silent_p.P217P|HNRNPK_ENST00000376281.4_Silent_p.P217P|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000360384.5_Silent_p.P217P|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	217	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GTCCTTTGATGGGAGACTAAA	0.403																																																0													48	47	48					9																	86587099		2203	4300	6503	SO:0001819	synonymous_variant	3190				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.651C>A	chr9.hg19:g.86587099G>T			Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Silent	SNP	ENST00000376264.2	hg19	CCDS6667.1																																																																																				0.403	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			T	86587099	G	T	86587099	2	4	74	1	0	0	0	0	0	0	0	1	7271	1335	47	4		4	HNRNPK	9	86587099	Silent	SNP	G	TCGA-A4-8310-01A-11D-2396-08	53279887	86587099	54626332	42	5081											
CUBN	8029	hgsc.bcm.edu	37	10	17157562	17157562	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr10:17157562A>G	ENST00000377833.4	-	7	693	c.628T>C	c.(628-630)Tgt>Cgt	p.C210R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	210	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGATGCACACTGGGGTCCG	0.542																																																0													147	123	131					10																	17157562		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.628T>C	chr10.hg19:g.17157562A>G	ENSP00000367064:p.Cys210Arg		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.003508	0.54254	.	.	ENSG00000107611	ENST00000377833	D	0.91521	-2.86	5.75	5.75	0.90469	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.50627	D	0.000104	D	0.97362	0.9137	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98939	1.0790	10	0.87932	D	0	.	15.7034	0.77558	1.0:0.0:0.0:0.0	.	210	O60494	CUBN_HUMAN	R	210	ENSP00000367064:C210R	ENSP00000367064:C210R	C	-	1	0	CUBN	17197568	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.574000	0.82434	2.197000	0.70478	0.533000	0.62120	TGT		0.542	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	17157562	A	G	17157562	3	3	74	1	0	0	0	0	1	0	0	0	4053	159	6	3	10487	3	CUBN	10	17157562	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08		17157562	118377185	43	5082											
HECTD2	143279	hgsc.bcm.edu	37	10	93252242	93252243	+	Splice_Site	INS	-	-	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr10:93252242_93252243insT	ENST00000298068.5	+	13	1526		c.e13+1		HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000446394.1_Splice_Site	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CCAGATTATGGTAAGTATGTAA	0.312																																					NSCLC(12;376 469 1699 39910 41417)											0																																										SO:0001630	splice_region_variant	143279			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1432+1->T	chr10.hg19:g.93252243_93252243dupT			Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Splice_Site	INS	ENST00000298068.5	hg19	CCDS7414.1																																																																																				0.312	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		Intron	T	93252243	-	T	93252242	8	5	74	1	0	1	1	0	0	0	1	0	7042	1275	44	0	1507	0	HECTD2	10	93252242	Splice_Site	INS	-	TCGA-A4-8310-01A-11D-2396-08	76094680	93252242	42282505	44	5083											
IDE	3416	hgsc.bcm.edu	37	10	94239044	94239044	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr10:94239044T>C	ENST00000265986.6	-	15	1930	c.1874A>G	c.(1873-1875)tAt>tGt	p.Y625C	IDE_ENST00000371581.5_Missense_Mutation_p.Y70C|IDE_ENST00000496903.1_Intron	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	625					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	ATACATCCCATAGATGGTATT	0.408																																																0													172	149	157					10																	94239044		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1874A>G	chr10.hg19:g.94239044T>C	ENSP00000265986:p.Tyr625Cys		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	hg19	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522510	0.44866	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.40756	1.02;1.02	5.64	5.64	0.86602	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.140820	0.49305	D	0.000142	T	0.40956	0.1138	M	0.64170	1.965	0.80722	D	1	P	0.38370	0.628	B	0.33890	0.172	T	0.34601	-0.9822	10	0.38643	T	0.18	-12.9568	15.5248	0.75894	0.0:0.0:0.0:1.0	.	625	P14735	IDE_HUMAN	C	625;70	ENSP00000265986:Y625C;ENSP00000360637:Y70C	ENSP00000265986:Y625C	Y	-	2	0	IDE	94229024	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.152000	0.67230	0.533000	0.62120	TAT		0.408	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		C	94239044	T	C	94239044	3	2	74	1	0	0	0	0	1	0	0	0	7495	1406	49	3	1229	3	IDE	10	94239044	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08	986802	94239044	41295703	45	5084											
SLC22A8	9376	hgsc.bcm.edu	37	11	62782340	62782340	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr11:62782340T>C	ENST00000336232.2	-	2	226	c.91A>G	c.(91-93)Atg>Gtg	p.M31V	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.M31V|SLC22A8_ENST00000430500.2_Missense_Mutation_p.M31V|SLC22A8_ENST00000545207.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	31					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGGTTGGCCATGTTGAGGATC	0.617																																																0													183	179	181					11																	62782340		2201	4298	6499	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.91A>G	chr11.hg19:g.62782340T>C	ENSP00000337335:p.Met31Val		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	hg19	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.009360	0.35415	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000311438;ENST00000430500	T;T;T	0.53206	0.63;0.63;0.63	4.76	2.38	0.29361	.	0.446155	0.25666	N	0.029103	T	0.26484	0.0647	N	0.21282	0.65	0.24143	N	0.995726	B;B	0.18968	0.032;0.01	B;B	0.21917	0.037;0.016	T	0.23726	-1.0180	10	0.08381	T	0.77	.	6.2794	0.20999	0.153:0.0:0.1774:0.6696	.	31;31	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	V	31	ENSP00000337335:M31V;ENSP00000311463:M31V;ENSP00000398548:M31V	ENSP00000311463:M31V	M	-	1	0	SLC22A8	62538916	0.007000	0.16637	0.736000	0.30914	0.989000	0.77384	0.313000	0.19415	0.303000	0.22785	0.533000	0.62120	ATG		0.617	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		C	62782340	T	C	62782340	3	2	74	1	0	0	0	0	1	0	0	0	14466	1464	51	3	1577	3	SLC22A8	11	62782340	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08		62782340	72224176	46	5085											
PITPNM1	9600	hgsc.bcm.edu	37	11	67263727	67263727	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr11:67263727T>C	ENST00000534749.1	-	14	2427	c.2239A>G	c.(2239-2241)Aag>Gag	p.K747E	PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000356404.3_Missense_Mutation_p.K747E|PITPNM1_ENST00000436757.2_Missense_Mutation_p.K746E			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	747	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCCTGGAACTTCGGGGCCAGC	0.642																																					GBM(28;144 709 4607 5525)											0													41	42	42					11																	67263727		2200	4294	6494	SO:0001583	missense	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2239A>G	chr11.hg19:g.67263727T>C	ENSP00000437286:p.Lys747Glu		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	hg19	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758047	0.31137	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.39787	1.06;1.06;1.06	4.43	3.29	0.37713	DDHD (2);	0.329601	0.26757	N	0.022648	T	0.26195	0.0639	N	0.13235	0.315	0.28852	N	0.896001	P;P	0.36712	0.51;0.566	B;B	0.40702	0.228;0.338	T	0.10086	-1.0645	10	0.46703	T	0.11	-28.7945	6.0013	0.19521	0.0:0.089:0.1682:0.7428	.	746;747	O00562-2;O00562	.;PITM1_HUMAN	E	747;746;747	ENSP00000437286:K747E;ENSP00000398787:K746E;ENSP00000348772:K747E	ENSP00000348772:K747E	K	-	1	0	PITPNM1	67020303	0.737000	0.28175	1.000000	0.80357	0.378000	0.30076	0.802000	0.27069	0.837000	0.34925	-0.429000	0.05907	AAG		0.642	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		C	67263727	T	C	67263727	3	2	74	1	0	0	0	0	1	0	0	0	11952	1792	62	3	1535	3	PITPNM1	11	67263727	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08	4481387	67263727	67742789	47	5086											
ALG9	79796	hgsc.bcm.edu	37	11	111715419	111715419	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr11:111715419A>G	ENST00000531154.1	-	9	882	c.410T>C	c.(409-411)aTt>aCt	p.I137T	ALG9_ENST00000398006.2_Missense_Mutation_p.I137T|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	308					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AAATCCATTAATTAAATAGAA	0.393																																																0													91	86	88					11																	111715419		1836	4091	5927	SO:0001583	missense	79796				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.410T>C	chr11.hg19:g.111715419A>G	ENSP00000435517:p.Ile137Thr		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	hg19	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.077619	0.55753	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.63417	-0.04;-0.04	5.69	5.69	0.88448	.	0.149147	0.64402	D	0.000012	T	0.67878	0.2940	L	0.60455	1.87	0.51767	D	0.999935	P;B;B;P	0.41080	0.549;0.068;0.055;0.737	B;B;B;P	0.49301	0.272;0.068;0.076;0.606	T	0.63782	-0.6559	10	0.22109	T	0.4	-13.3791	15.9548	0.79880	1.0:0.0:0.0:0.0	.	137;308;541;308	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	T	137;137;541	ENSP00000435517:I137T;ENSP00000381090:I137T	ENSP00000381090:I137T	I	-	2	0	ALG9	111220629	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.161000	0.77505	2.171000	0.68590	0.528000	0.53228	ATT		0.393	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		G	111715419	A	G	111715419	3	3	74	1	0	0	0	0	1	0	0	0	524	101	4	3	961	3	ALG9	11	111715419	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08	44451692	111715419	23291097	48	5087											
NCAPD2	9918	hgsc.bcm.edu	37	12	6638743	6638743	+	Silent	SNP	C	C	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr12:6638743C>A	ENST00000315579.5	+	28	4436	c.3637C>A	c.(3637-3639)Cgg>Agg	p.R1213R	RP5-940J5.3_ENST00000537921.1_RNA|NCAPD2_ENST00000545962.1_Silent_p.R1168R	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1213					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCTGTGTCAGCGGTTCCGCAC	0.602																																																0													95	82	86					12																	6638743		2203	4300	6503	SO:0001819	synonymous_variant	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3637C>A	chr12.hg19:g.6638743C>A			D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	hg19	CCDS8548.1																																																																																				0.602	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		A	6638743	C	A	6638743	2	1	74	1	0	0	0	0	0	0	0	1	10207	759	27	4		4	NCAPD2	12	6638743	Silent	SNP	C	TCGA-A4-8310-01A-11D-2396-08		6638743	127213152	49	5088											
ESD	2098	hgsc.bcm.edu	37	13	47345616	47345616	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr13:47345616A>G	ENST00000378720.3	-	10	966	c.784T>C	c.(784-786)Tac>Cac	p.Y262H	ESD_ENST00000378697.1_Missense_Mutation_p.Y233H	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	262					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	ATGAAGTAGTAGCTATGATCA	0.328																																																0													152	154	153					13																	47345616		2203	4296	6499	SO:0001583	missense	2098			M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"S-formylglutathione hydrolase"	133280	"esterase D/formylglutathione hydrolase"				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.784T>C	chr13.hg19:g.47345616A>G	ENSP00000367992:p.Tyr262His		Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Missense_Mutation	SNP	ENST00000378720.3	hg19	CCDS9404.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686182	0.88639	.	.	ENSG00000139684	ENST00000378720;ENST00000378697	T;T	0.37584	1.19;1.19	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81052	-0.1107	10	0.87932	D	0	-15.2421	16.0034	0.80327	1.0:0.0:0.0:0.0	.	262	P10768	ESTD_HUMAN	H	262;233	ENSP00000367992:Y262H;ENSP00000367969:Y233H	ENSP00000367969:Y233H	Y	-	1	0	ESD	46243617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.060000	0.93907	2.371000	0.80710	0.533000	0.62120	TAC		0.328	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			G	47345616	A	G	47345616	3	3	74	1	0	0	0	0	1	0	0	0	5252	420	15	3	68	3	ESD	13	47345616	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08		47345616	67824262	50	5089											
ATP7B	540	hgsc.bcm.edu	37	13	52511445	52511445	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr13:52511445T>G	ENST00000242839.4	-	19	4144	c.3988A>C	c.(3988-3990)Att>Ctt	p.I1330L	ATP7B_ENST00000344297.5_Missense_Mutation_p.I1123L|ATP7B_ENST00000400366.3_Missense_Mutation_p.I1219L|ATP7B_ENST00000418097.2_Missense_Mutation_p.I1265L|ATP7B_ENST00000400370.3_Missense_Mutation_p.I900L|ATP7B_ENST00000417240.2_Missense_Mutation_p.I541L|ATP7B_ENST00000448424.2_Missense_Mutation_p.I1252L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1330					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGGTTATAAATCAGTGCCAGG	0.532									Wilson disease																																							0													104	109	107					13																	52511445		2043	4195	6238	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3988A>C	chr13.hg19:g.52511445T>G	ENSP00000242839:p.Ile1330Leu		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	hg19	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459608	0.63401	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-2.36;-5.5;-5.5;-5.5	5.34	5.34	0.76211	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98689	0.9560	L	0.42008	1.315	0.80722	D	1	D;B;D;B;D;P;D;D	0.56521	0.974;0.191;0.976;0.447;0.976;0.678;0.976;0.974	D;B;P;B;P;P;P;P	0.66716	0.946;0.145;0.741;0.285;0.741;0.646;0.741;0.677	D	0.99474	1.0946	10	0.40728	T	0.16	-22.351	15.6255	0.76851	0.0:0.0:0.0:1.0	.	1252;1282;1265;541;900;1219;1123;1330	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	L	1330;1219;1123;541;1252;900;1265	ENSP00000242839:I1330L;ENSP00000383217:I1219L;ENSP00000342559:I1123L;ENSP00000390360:I541L;ENSP00000416738:I1252L;ENSP00000383221:I900L;ENSP00000393343:I1265L	ENSP00000242839:I1330L	I	-	1	0	ATP7B	51409446	1.000000	0.71417	0.983000	0.44433	0.966000	0.64601	6.243000	0.72384	2.144000	0.66660	0.533000	0.62120	ATT		0.532	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		G	52511445	T	G	52511445	3	3	74	1	0	0	0	0	1	0	0	0	1191	1435	50	5	421	5	ATP7B	13	52511445	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08	5165829	52511445	62658433	51	5090											
STK24	8428	hgsc.bcm.edu	37	13	99114124	99114125	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr13:99114124_99114125insC	ENST00000376547.3	-	8	1137_1138	c.992_993insG	c.(991-993)ggcfs	p.G331fs	STK24_ENST00000397517.2_Frame_Shift_Ins_p.G319fs|STK24_ENST00000539966.1_Frame_Shift_Ins_p.G300fs	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	331					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGAATCACTGCCCCCCGAGGC	0.535																																																0																																										SO:0001589	frameshift_variant	8428			AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"STE20-like kinase 3", "sterile 20-like kinase 3"	604984	"serine/threonine kinase 24 (Ste20, yeast homolog)"			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.993dupG	chr13.hg19:g.99114130_99114130dupC	ENSP00000365730:p.Gly331fs		O14840|Q5JV92	Frame_Shift_Ins	INS	ENST00000376547.3	hg19	CCDS9488.1																																																																																				0.535	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		C	99114125	-	C	99114124	7	5	74	1	0	1	1	0	0	0	0	0	15298	1306	46	0	354	0	STK24	13	99114124	Frame_Shift_Ins	INS	-	TCGA-A4-8310-01A-11D-2396-08	46602679	99114124	16055754	52	5091											
SERPINA10	51156	hgsc.bcm.edu	37	14	94756790	94756790	+	Silent	SNP	C	C	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr14:94756790C>T	ENST00000393096.1	-	2	606	c.141G>A	c.(139-141)gaG>gaA	p.E47E	SERPINA10_ENST00000554723.1_Silent_p.E87E|SERPINA10_ENST00000554173.1_Silent_p.E47E|SERPINA10_ENST00000261994.4_Silent_p.E47E	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	47					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTCCTCTTCCTCCTTGGGAG	0.622																																																0													39	38	38					14																	94756790		2203	4300	6503	SO:0001819	synonymous_variant	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.141G>A	chr14.hg19:g.94756790C>T			A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	hg19	CCDS9923.1																																																																																				0.622	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		T	94756790	C	T	94756790	2	4	74	1	0	0	0	0	0	0	0	1	14093	680	24	2		2	SERPINA10	14	94756790	Silent	SNP	C	TCGA-A4-8310-01A-11D-2396-08		94756790	12592750	53	5092											
RORA	6095	hgsc.bcm.edu	37	15	60849084	60849084	+	Intron	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr15:60849084T>C	ENST00000335670.6	-	3	297				RORA_ENST00000449337.2_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000309157.4_Intron|RORA_ENST00000261523.5_Missense_Mutation_p.E88G	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTCCTTATCTTCCTTTTGTGA	0.403																																																0													325	278	294					15																	60849084		2203	4300	6503	SO:0001627	intron_variant	6095			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.197-25034A>G	chr15.hg19:g.60849084T>C			P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	hg19	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566201	0.27915	.	.	ENSG00000069667	ENST00000261523	D	0.94457	-3.43	4.3	3.17	0.36434	.	2.259680	0.02344	N	0.075239	D	0.87815	0.6272	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.77749	-0.2471	10	0.22706	T	0.39	.	7.854	0.29472	0.0:0.0:0.2396:0.7604	.	88	P35398	RORA_HUMAN	G	88	ENSP00000261523:E88G	ENSP00000261523:E88G	E	-	2	0	RORA	58636376	0.028000	0.19301	0.012000	0.15200	0.033000	0.12548	0.610000	0.24253	0.985000	0.38656	0.533000	0.62120	GAA		0.403	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			C	60849084	T	C	60849084	1	2	74	0	1	0	0	0	0	0	0	0	13534	1783	62	3		3	RORA	15	60849084	Intron	SNP	T	TCGA-A4-8310-01A-11D-2396-08		60849084	41682308	54	5093											
GFER	2671	hgsc.bcm.edu	37	16	2035934	2035934	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr16:2035934A>C	ENST00000248114.6	+	3	529	c.523A>C	c.(523-525)Aat>Cat	p.N175H	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_Missense_Mutation_p.Q109P|GFER_ENST00000567719.1_Missense_Mutation_p.N100H	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	175	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)			endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	CCACCTGCACAATGAAGTGAA	0.587																																																0													95	91	92					16																	2035934		2198	4299	6497	SO:0001583	missense	2671			BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"ERV1 homolog (S. cerevisiae)"	600924	"growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.523A>C	chr16.hg19:g.2035934A>C	ENSP00000248114:p.Asn175His		Q53YM6|Q8TAH6|Q9H290|Q9UK40	Missense_Mutation	SNP	ENST00000248114.6	hg19	CCDS32368.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	19.71|19.71	3.878702|3.878702	0.72294|0.72294	.|.	.|.	ENSG00000127554|ENSG00000127554	ENST00000248114|ENST00000425414	T|.	0.79454|.	-1.27|.	4.43|4.43	4.43|4.43	0.53597|0.53597	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87799|0.87799	0.6268|0.6268	H|H	0.97852|0.97852	4.09|4.09	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.91675|0.91675	0.5353|0.5353	10|6	0.87932|0.72032	D|D	0|0.01	-22.5825|-22.5825	13.1409|13.1409	0.59434|0.59434	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	101;175|.	Q9UQK8;P55789|.	.;ALR_HUMAN|.	H|P	175|94	ENSP00000248114:N175H|.	ENSP00000248114:N175H|ENSP00000396950:Q94P	N|Q	+|+	1|2	0|0	GFER|GFER	1975935|1975935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.444000|0.444000	0.32077|0.32077	6.743000|6.743000	0.74848|0.74848	1.763000|1.763000	0.52060|0.52060	0.418000|0.418000	0.28097|0.28097	AAT|CAA		0.587	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	NM_005262		C	2035934	A	C	2035934	3	2	74	1	0	0	0	0	1	0	0	0	6340	130	5	5	533	5	GFER	16	2035934	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08		2035934	88318819	55	5094			1	11		2	2	34	N	T_A	7.994709e-05
GFER	2671	hgsc.bcm.edu	37	16	2035967	2035967	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr16:2035967T>A	ENST00000248114.6	+	3	562	c.556T>A	c.(556-558)Ttc>Atc	p.F186I	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Missense_Mutation_p.F111I	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	186	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)			endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	CAAGCCTGACTTCGACTGCTC	0.612																																																0													93	87	89					16																	2035967		2198	4300	6498	SO:0001583	missense	2671			BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"ERV1 homolog (S. cerevisiae)"	600924	"growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.556T>A	chr16.hg19:g.2035967T>A	ENSP00000248114:p.Phe186Ile		Q53YM6|Q8TAH6|Q9H290|Q9UK40	Missense_Mutation	SNP	ENST00000248114.6	hg19	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	t	33	5.218249	0.95104	.	.	ENSG00000127554	ENST00000248114	T	0.64803	-0.12	4.43	4.43	0.53597	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.000000	0.85682	D	0.000000	D	0.84951	0.5586	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	0.985;1.0	D;D	0.81914	0.982;0.995	D	0.89667	0.3881	10	0.87932	D	0	-13.6696	13.1409	0.59434	0.0:0.0:0.0:1.0	.	112;186	Q9UQK8;P55789	.;ALR_HUMAN	I	186	ENSP00000248114:F186I	ENSP00000248114:F186I	F	+	1	0	GFER	1975968	1.000000	0.71417	0.993000	0.49108	0.876000	0.50452	7.301000	0.78850	1.763000	0.52060	0.418000	0.28097	TTC		0.612	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	NM_005262		A	2035967	T	A	2035967	3	1	74	1	0	0	0	0	1	0	0	0	6340	1609	56	5	566	5	GFER	16	2035967	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08	33	2035967	88318786	56	5095			1	11		2	2	34	N	T_A	7.994709e-05
TSC2	7249	hgsc.bcm.edu	37	16	2134472	2134472	+	Missense_Mutation	SNP	C	C	T	rs137854296		TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr16:2134472C>T	ENST00000219476.3	+	34	4879	c.4249C>T	c.(4249-4251)Cgg>Tgg	p.R1417W	TSC2_ENST00000568454.1_Missense_Mutation_p.R1361W|TSC2_ENST00000382538.6_Missense_Mutation_p.R1302W|TSC2_ENST00000401874.2_Missense_Mutation_p.R1350W|TSC2_ENST00000353929.4_Missense_Mutation_p.R1374W|TSC2_ENST00000350773.4_Missense_Mutation_p.R1394W|TSC2_ENST00000439673.2_Missense_Mutation_p.R1314W	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1417					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGTTAAGGCCCGGTCACAGTC	0.687			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0			GRCh37	CD052525	TSC2	D	rs137854055						20	21	21					16																	2134472		2177	4290	6467	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4249C>T	chr16.hg19:g.2134472C>T	ENSP00000219476:p.Arg1417Trp		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337016	0.41398	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.89552	-2.44;-2.43;-2.53;-2.49;-2.45	5.03	4.01	0.46588	.	0.484865	0.20178	N	0.097594	D	0.87900	0.6294	N	0.19112	0.55	0.23254	N	0.998035	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.999;0.999;0.995	P;D;D;D;D;D;P	0.67725	0.898;0.953;0.953;0.928;0.953;0.953;0.727	T	0.78730	-0.2090	10	0.66056	D	0.02	-16.5437	8.9464	0.35762	0.2272:0.6557:0.117:0.0	.	1302;1314;1394;192;1373;1350;1417	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	W	1417;1351;1374;1314;1302;1394	ENSP00000219476:R1417W;ENSP00000248099:R1374W;ENSP00000399232:R1314W;ENSP00000371978:R1302W;ENSP00000344383:R1394W	ENSP00000219476:R1417W	R	+	1	2	TSC2	2074473	0.500000	0.26091	0.892000	0.35008	0.367000	0.29736	1.806000	0.38892	2.350000	0.79820	0.484000	0.47621	CGG		0.687	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		T	2134472	C	T	2134472	3	4	74	1	0	0	0	0	1	0	0	0	16611	643	23	1	4379	1	TSC2	16	2134472	Missense_Mutation	SNP	C	TCGA-A4-8310-01A-11D-2396-08	98505	2134472	88220281	57	5096											
BFAR	51283	hgsc.bcm.edu	37	16	14755823	14755823	+	Silent	SNP	G	G	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr16:14755823G>T	ENST00000261658.2	+	6	1135	c.858G>T	c.(856-858)ctG>ctT	p.L286L	BFAR_ENST00000426842.2_Silent_p.L158L|BFAR_ENST00000563971.1_Silent_p.L161L	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	286					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TGCTCTACCTGTACCTGTTTG	0.567																																																0													237	201	213					16																	14755823		2197	4300	6497	SO:0001819	synonymous_variant	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.858G>T	chr16.hg19:g.14755823G>T			A8K4Z9|B4DUT0|D3DUG8	Silent	SNP	ENST00000261658.2	hg19	CCDS10554.1																																																																																				0.567	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		T	14755823	G	T	14755823	2	4	74	1	0	0	0	0	0	0	0	1	1414	1364	48	4		4	BFAR	16	14755823	Silent	SNP	G	TCGA-A4-8310-01A-11D-2396-08	12621351	14755823	75598930	58	5097											
XYLT1	64131	hgsc.bcm.edu	37	16	17202725	17202725	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr16:17202725C>A	ENST00000261381.6	-	12	2791	c.2707G>T	c.(2707-2709)Gag>Tag	p.E903*		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	903					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.E903Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCCATCCCTCCAGCGCTGTG	0.667																																																2	Substitution - Missense(2)	lung(2)											71	63	66					16																	17202725		2197	4300	6497	SO:0001587	stop_gained	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2707G>T	chr16.hg19:g.17202725C>A	ENSP00000261381:p.Glu903*		Q9H1B6	Nonsense_Mutation	SNP	ENST00000261381.6	hg19	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	40	8.341779	0.98769	.	.	ENSG00000103489	ENST00000261381	.	.	.	5.7	5.7	0.88788	.	0.042979	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-47.0445	18.8196	0.92090	0.0:1.0:0.0:0.0	.	.	.	.	X	903	.	ENSP00000261381:E903X	E	-	1	0	XYLT1	17110226	1.000000	0.71417	0.995000	0.50966	0.811000	0.45836	5.784000	0.68990	2.675000	0.91044	0.655000	0.94253	GAG		0.667	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		A	17202725	C	A	17202725	4	1	74	1	0	0	0	0	0	1	0	0	17468	864	30	4	176	4	XYLT1	16	17202725	Nonsense_Mutation	SNP	C	TCGA-A4-8310-01A-11D-2396-08	2446902	17202725	73152028	59	5098											
SLC12A4	6560	hgsc.bcm.edu	37	16	67982000	67982000	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr16:67982000G>A	ENST00000316341.3	-	14	1951	c.1811C>T	c.(1810-1812)aCc>aTc	p.T604I	SLC12A4_ENST00000576616.1_Missense_Mutation_p.T604I|SLC12A4_ENST00000338335.3_Missense_Mutation_p.T604I|SLC12A4_ENST00000572037.1_Missense_Mutation_p.T556I|SLC12A4_ENST00000541864.2_Missense_Mutation_p.T573I|SLC12A4_ENST00000422611.2_Missense_Mutation_p.T606I|SLC12A4_ENST00000537830.2_Missense_Mutation_p.T598I	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	604					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGTTGGGGGTCCTCAGGAG	0.617																																																0													86	87	87					16																	67982000		2198	4300	6498	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1811C>T	chr16.hg19:g.67982000G>A	ENSP00000318557:p.Thr604Ile		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	hg19	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548568	0.96488	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98	5.82	5.82	0.92795	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98957	0.9645	M	0.79805	2.47	0.80722	D	1	B;P;D;P;P;P	0.69078	0.338;0.917;0.997;0.511;0.511;0.76	B;P;D;B;B;P	0.71184	0.373;0.783;0.972;0.373;0.281;0.507	D	0.99808	1.1039	10	0.87932	D	0	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	606;604;573;598;604;604	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	I	606;573;598;604;604	ENSP00000395983:T606I;ENSP00000438334:T573I;ENSP00000445962:T598I;ENSP00000343374:T604I;ENSP00000318557:T604I	ENSP00000318557:T604I	T	-	2	0	SLC12A4	66539501	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.807000	0.99171	2.767000	0.95098	0.655000	0.94253	ACC		0.617	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		A	67982000	G	A	67982000	3	1	74	1	0	0	0	0	1	0	0	0	14391	1261	44	2	1490	2	SLC12A4	16	67982000	Missense_Mutation	SNP	G	TCGA-A4-8310-01A-11D-2396-08	50779275	67982000	22372753	60	5099											
KIAA0664	23277	hgsc.bcm.edu	37	17	2595388	2595388	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr17:2595388G>T	ENST00000570628.2	-	23	3552	c.3447C>A	c.(3445-3447)caC>caA	p.H1149Q	CLUH_ENST00000538975.1_Missense_Mutation_p.H1149Q|CLUH_ENST00000435359.1_Missense_Mutation_p.H1149Q			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1149					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CGACAAGGTGGTGGCTGCCGG	0.687																																																0													9	10	10					17																	2595388		1998	4151	6149	SO:0001583	missense	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3447C>A	chr17.hg19:g.2595388G>T	ENSP00000458986:p.His1149Gln		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	hg19	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989729	0.74589	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.93953	-3.32;-3.32	4.81	4.81	0.61882	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.94961	0.8370	L	0.49350	1.555	0.58432	D	0.999994	P;D	0.61697	0.629;0.99	P;D	0.66351	0.542;0.943	D	0.95039	0.8176	10	0.59425	D	0.04	.	15.1886	0.73025	0.0:0.0:1.0:0.0	.	1149;1150	O75153;C9J6D7	K0664_HUMAN;.	Q	1149;1150;1149	ENSP00000388872:H1149Q;ENSP00000439628:H1149Q	ENSP00000320468:H1150Q	H	-	3	2	KIAA0664	2542138	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.158000	0.50723	2.494000	0.84150	0.549000	0.68633	CAC		0.687	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		T	2595388	G	T	2595388	3	4	74	1	0	0	0	0	1	0	0	0	8191	1252	44	4	498	4	KIAA0664	17	2595388	Missense_Mutation	SNP	G	TCGA-A4-8310-01A-11D-2396-08		2595388	78599822	61	5100											
NDEL1	81565	hgsc.bcm.edu	37	17	8350137	8350137	+	Silent	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr17:8350137T>C	ENST00000334527.7	+	4	503	c.306T>C	c.(304-306)agT>agC	p.S102S	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Silent_p.S102S|NDEL1_ENST00000402554.3_Silent_p.S102S|NDEL1_ENST00000380025.4_Silent_p.S102S	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	102	Interaction with KATNB1. {ECO:0000250}.|Self-association. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						ATGATTTAAGTCAGACTCGGG	0.463																																																0													114	104	107					17																	8350137		2203	4300	6503	SO:0001819	synonymous_variant	81565			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.306T>C	chr17.hg19:g.8350137T>C			B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Silent	SNP	ENST00000334527.7	hg19	CCDS11143.1																																																																																				0.463	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		C	8350137	T	C	8350137	2	2	74	1	0	0	0	0	0	0	0	1	10246	1664	58	3		3	NDEL1	17	8350137	Silent	SNP	T	TCGA-A4-8310-01A-11D-2396-08	5754749	8350137	72845073	62	5101											
ACLY	47	hgsc.bcm.edu	37	17	40025023	40025023	+	Silent	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr17:40025023T>C	ENST00000352035.2	-	28	3280	c.3150A>G	c.(3148-3150)gaA>gaG	p.E1050E	ACLY_ENST00000537919.1_Silent_p.E779E|ACLY_ENST00000353196.1_Silent_p.E1040E|ACLY_ENST00000590151.1_Silent_p.E1050E|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000393896.2_Silent_p.E1040E	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1050					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGTCAATATATTCATCAGCTT	0.438																																					Colon(64;807 1396 15971 30971)											0													157	139	145					17																	40025023		2203	4300	6503	SO:0001819	synonymous_variant	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3150A>G	chr17.hg19:g.40025023T>C			B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	hg19	CCDS11412.1																																																																																				0.438	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		C	40025023	T	C	40025023	2	2	74	1	0	0	0	0	0	0	0	1	143	1490	52	3		3	ACLY	17	40025023	Silent	SNP	T	TCGA-A4-8310-01A-11D-2396-08	31674886	40025023	41170187	63	5102											
CSNK1D	1453	hgsc.bcm.edu	37	17	80202675	80202675	+	Silent	SNP	C	C	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr17:80202675C>T	ENST00000314028.6	-	9	1579	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	CSNK1D_ENST00000398519.5_Intron|CSNK1D_ENST00000392334.2_3'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	410					circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GCACGACAGACTGAAGACCAC	0.557											OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													115	85	95					17																	80202675		2203	4300	6503	SO:0001819	synonymous_variant	1453				CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.1230G>A	chr17.hg19:g.80202675C>T		1196	A2I2P2|Q96KZ6|Q9BTN5	Silent	SNP	ENST00000314028.6	hg19	CCDS11805.1																																																																																				0.557	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		T	80202675	C	T	80202675	2	4	74	1	0	0	0	0	0	0	0	1	3954	564	20	2		2	CSNK1D	17	80202675	Silent	SNP	C	TCGA-A4-8310-01A-11D-2396-08	40177652	80202675	992535	64	5103											
SMARCA4	6597	hgsc.bcm.edu	37	19	11132430	11132430	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr19:11132430A>T	ENST00000429416.3	+	20	2927	c.2646A>T	c.(2644-2646)gaA>gaT	p.E882D	SMARCA4_ENST00000344626.4_Missense_Mutation_p.E882D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E882D|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E882D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E882D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E882D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E882D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E882D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E882D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	882	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGTGGACGAAGGTCACCGCA	0.632			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											77	61	67					19																	11132430		2202	4300	6502	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2646A>T	chr19.hg19:g.11132430A>T	ENSP00000395654:p.Glu882Asp		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825530	0.71143	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99652	-6.3;-6.3;-6.3;-6.3;-6.3;-6.3;-6.3	4.66	-2.31	0.06765	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	H	0.99825	4.815	0.50313	D	0.999868	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.97110	0.994;0.994;0.994;0.992;0.981;1.0;0.994;0.994	D	0.98030	1.0376	10	0.87932	D	0	-29.2033	10.9557	0.47356	0.5266:0.0:0.4734:0.0	.	882;882;882;882;882;102;882;882	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	D	882;882;946;882;882;882;882;882	ENSP00000395654:E882D;ENSP00000350720:E882D;ENSP00000343896:E882D;ENSP00000445036:E882D;ENSP00000392837:E882D;ENSP00000397783:E882D;ENSP00000414727:E882D	ENSP00000343896:E882D	E	+	3	2	SMARCA4	10993430	0.554000	0.26522	0.953000	0.39169	0.784000	0.44337	-0.089000	0.11180	-0.861000	0.04094	-0.256000	0.11100	GAA		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11132430	A	T	11132430	3	4	74	1	0	0	0	0	1	0	0	0	14776	69	3	5	2716	5	SMARCA4	19	11132430	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08		11132430	47996553	65	5104											
HRC	3270	hgsc.bcm.edu	37	19	49657889	49657889	+	Silent	SNP	T	T	C	rs57199624|rs147238387|rs551367394|rs542091249		TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr19:49657889T>C	ENST00000252825.4	-	1	792	c.606A>G	c.(604-606)gaA>gaG	p.E202E	HRC_ENST00000595625.1_Silent_p.E202E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	202	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		AGGcctcctcttcctcctcct	0.567																																					Melanoma(37;75 1097 24567 25669 30645)											0													122	91	101					19																	49657889		2203	4300	6503	SO:0001819	synonymous_variant	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.606A>G	chr19.hg19:g.49657889T>C			Q504Y6	Silent	SNP	ENST00000252825.4	hg19	CCDS12759.1																																																																																				0.567	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		C	49657889	T	C	49657889	2	2	74	1	0	0	0	0	0	0	0	1	7354	1606	56	3		3	HRC	19	49657889	Silent	SNP	T	TCGA-A4-8310-01A-11D-2396-08	38525459	49657889	9471094	66	5105											
SAPS1	22870	hgsc.bcm.edu	37	19	55752903	55752903	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr19:55752903A>T	ENST00000412770.2	-	8	1516	c.950T>A	c.(949-951)tTg>tAg	p.L317*	PPP6R1_ENST00000587283.1_Nonsense_Mutation_p.L317*	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	317	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						TAGGGCGTGCAAGGCGCCCAC	0.672																																																0													16	20	19					19																	55752903		2009	4156	6165	SO:0001587	stop_gained	22870			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.950T>A	chr19.hg19:g.55752903A>T	ENSP00000414202:p.Leu317*		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Nonsense_Mutation	SNP	ENST00000412770.2	hg19	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	A	36	5.920878	0.97105	.	.	ENSG00000105063	ENST00000412770	.	.	.	4.31	4.31	0.51392	.	0.000000	0.41938	D	0.000783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1454	11.7405	0.51790	1.0:0.0:0.0:0.0	.	.	.	.	X	317	.	ENSP00000414202:L317X	L	-	2	0	PPP6R1	60444715	1.000000	0.71417	0.898000	0.35279	0.236000	0.25371	4.122000	0.57910	1.937000	0.56155	0.379000	0.24179	TTG		0.672	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		T	55752903	A	T	55752903	4	4	74	1	0	0	0	0	0	1	0	0	13842	131	5	5	1763	5	SAPS1	19	55752903	Nonsense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08	6095014	55752903	3376080	67	5106											
DNMT3B	1789	hgsc.bcm.edu	37	20	31375212	31375212	+	Silent	SNP	G	G	A	rs376501500		TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr20:31375212G>A	ENST00000328111.2	+	6	930	c.609G>A	c.(607-609)ccG>ccA	p.P203P	DNMT3B_ENST00000353855.2_Silent_p.P203P|DNMT3B_ENST00000344505.4_Silent_p.P203P|DNMT3B_ENST00000443239.3_Silent_p.P161P|DNMT3B_ENST00000456297.2_Silent_p.P127P|DNMT3B_ENST00000201963.3_Silent_p.P215P|DNMT3B_ENST00000348286.2_Silent_p.P203P|DNMT3B_ENST00000375623.4_Silent_p.P161P	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	203	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGAGTCCCCGCAGGTGGAGG	0.637																																																0								G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	52	51	51		483,381,609,609,609,645	-7.6	0	20		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	,,,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,,,	161/729,127/695,203/854,203/834,203/771,215/846	31375212	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.609G>A	chr20.hg19:g.31375212G>A			A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	hg19	CCDS13205.1																																																																																				0.637	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		A	31375212	G	A	31375212	2	1	74	1	0	0	0	0	0	0	0	1	4679	1074	38	1		1	DNMT3B	20	31375212	Silent	SNP	G	TCGA-A4-8310-01A-11D-2396-08		31375212	31650308	68	5107											
NCOA6	23054	hgsc.bcm.edu	37	20	33330861	33330861	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr20:33330861T>C	ENST00000374796.2	-	12	5769	c.3199A>G	c.(3199-3201)Aga>Gga	p.R1067G	NCOA6_ENST00000359003.2_Missense_Mutation_p.R1067G			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1067	NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATGGGCATTCTCTGGGAGTCG	0.537																																																0													112	117	115					20																	33330861		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3199A>G	chr20.hg19:g.33330861T>C	ENSP00000363929:p.Arg1067Gly		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	hg19	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067284	0.55539	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.52526	0.66;0.66	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.56396	0.1982	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.54827	-0.8235	10	0.38643	T	0.18	-10.3259	12.8878	0.58053	0.0:0.0:0.1444:0.8556	.	1067	Q14686	NCOA6_HUMAN	G	1067	ENSP00000363929:R1067G;ENSP00000351894:R1067G	ENSP00000351894:R1067G	R	-	1	2	NCOA6	32794522	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.049000	0.57397	2.225000	0.72522	0.460000	0.39030	AGA		0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		C	33330861	T	C	33330861	3	2	74	1	0	0	0	0	1	0	0	0	10235	1559	54	3	3012	3	NCOA6	20	33330861	Missense_Mutation	SNP	T	TCGA-A4-8310-01A-11D-2396-08	1955649	33330861	29694659	69	5108											
ARFGEF2	10564	hgsc.bcm.edu	37	20	47628617	47628617	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr20:47628617C>A	ENST00000371917.4	+	28	3914	c.3914C>A	c.(3913-3915)cCt>cAt	p.P1305H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1305					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCTGAGAGGCCTCGGGTTCGT	0.512																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													93	88	90					20																	47628617		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3914C>A	chr20.hg19:g.47628617C>A	ENSP00000360985:p.Pro1305His		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	hg19	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767327	0.90020	.	.	ENSG00000124198	ENST00000371917	T	0.56611	0.45	5.46	5.46	0.80206	Armadillo-type fold (1);	0.050275	0.85682	D	0.000000	T	0.77246	0.4102	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.81337	-0.0978	10	0.87932	D	0	.	19.3208	0.94237	0.0:1.0:0.0:0.0	.	1305	Q9Y6D5	BIG2_HUMAN	H	1305	ENSP00000360985:P1305H	ENSP00000360985:P1305H	P	+	2	0	ARFGEF2	47062024	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.747000	0.85070	2.557000	0.86248	0.561000	0.74099	CCT		0.512	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47628617	C	A	47628617	3	1	74	1	0	0	0	0	1	0	0	0	853	681	24	4	4024	4	ARFGEF2	20	47628617	Missense_Mutation	SNP	C	TCGA-A4-8310-01A-11D-2396-08	14297756	47628617	15396903	70	5109											
APOL6	80830	hgsc.bcm.edu	37	22	36055131	36055131	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr22:36055131C>G	ENST00000409652.4	+	3	796	c.520C>G	c.(520-522)Ctt>Gtt	p.L174V		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	174					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TATCTATAATCTTAGAAACAC	0.493																																																0													61	63	62					22																	36055131		2203	4300	6503	SO:0001583	missense	80830			AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"Apolipoproteins"	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.520C>G	chr22.hg19:g.36055131C>G	ENSP00000386280:p.Leu174Val		Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	hg19	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	C	0.284	-0.984328	0.02180	.	.	ENSG00000221963	ENST00000409652	T	0.03124	4.04	4.05	-3.17	0.05202	.	1.542230	0.03383	N	0.200606	T	0.01489	0.0048	N	0.01482	-0.84	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46331	-0.9199	10	0.11182	T	0.66	-11.6376	7.5122	0.27579	0.0:0.1896:0.5669:0.2435	.	174	Q9BWW8	APOL6_HUMAN	V	174	ENSP00000386280:L174V	ENSP00000386280:L174V	L	+	1	0	APOL6	34385077	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.171000	0.09883	-0.392000	0.07751	-1.127000	0.01993	CTT		0.493	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		G	36055131	C	G	36055131	3	3	74	1	0	0	0	0	1	0	0	0	810	913	32	4	526	4	APOL6	22	36055131	Missense_Mutation	SNP	C	TCGA-A4-8310-01A-11D-2396-08		36055131	15249435	71	5110											
BCOR	54880	hgsc.bcm.edu	37	X	39932880	39932880	+	Silent	SNP	G	G	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chrX:39932880G>T	ENST00000378444.4	-	4	1947	c.1719C>A	c.(1717-1719)gcC>gcA	p.A573A	BCOR_ENST00000397354.3_Silent_p.A573A|BCOR_ENST00000378455.4_Silent_p.A573A|BCOR_ENST00000342274.4_Silent_p.A573A	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	573					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGCATTGGGGGCGGGTGATG	0.617			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													72	62	65					X																	39932880		2202	4300	6502	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1719C>A	chrX.hg19:g.39932880G>T			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	hg19	CCDS48093.1																																																																																				0.617	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		T	39932880	G	T	39932880	2	4	74	1	0	0	0	0	0	0	0	1	1386	1219	43	4		4	BCOR	23	39932880	Silent	SNP	G	TCGA-A4-8310-01A-11D-2396-08		39932880	115337680	72	5111											
CXorf38	159013	hgsc.bcm.edu	37	X	40506303	40506303	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chrX:40506303A>G	ENST00000327877.5	-	2	333	c.307T>C	c.(307-309)Tgc>Cgc	p.C103R	CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000378418.2_Missense_Mutation_p.C103R|CXorf38_ENST00000378421.1_5'UTR	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	103										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CCCGGCCGGCAGTTTCCCCAG	0.622																																																0													26	27	26					X																	40506303		2202	4300	6502	SO:0001583	missense	159013			AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.307T>C	chrX.hg19:g.40506303A>G	ENSP00000330488:p.Cys103Arg		B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	hg19	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	a	22.0	4.230190	0.79688	.	.	ENSG00000185753	ENST00000327877;ENST00000378418	T;T	0.70516	-0.49;-0.49	5.26	4.06	0.47325	.	0.123229	0.56097	D	0.000040	T	0.79003	0.4373	M	0.66939	2.045	0.80722	D	1	D	0.55385	0.971	P	0.60473	0.875	T	0.78976	-0.1991	10	0.87932	D	0	-4.1854	10.4684	0.44622	0.8383:0.1617:0.0:0.0	.	103	Q8TB03	CX038_HUMAN	R	103	ENSP00000330488:C103R;ENSP00000367674:C103R	ENSP00000330488:C103R	C	-	1	0	CXorf38	40391247	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.258000	0.78371	0.627000	0.30340	0.483000	0.47432	TGC		0.622	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		G	40506303	A	G	40506303	3	3	74	1	0	0	0	0	1	0	0	0	4109	188	7	3	672	3	CXorf38	23	40506303	Missense_Mutation	SNP	A	TCGA-A4-8310-01A-11D-2396-08	573423	40506303	114764257	73	5112											
GJB1	2705	hgsc.bcm.edu	37	X	70444364	70444364	+	Silent	SNP	C	C	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chrX:70444364C>T	ENST00000374022.3	+	2	902	c.807C>T	c.(805-807)acC>acT	p.T269T	GJB1_ENST00000361726.6_Silent_p.T269T|GJB1_ENST00000374029.1_Silent_p.T269T	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	269					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					GCCCTGGCACCGGGGCTGGGC	0.637																																																0													7	7	7					X																	70444364		2162	4203	6365	SO:0001819	synonymous_variant	2705			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"Ion channels / Gap junction proteins (connexins)"	4283	protein-coding gene	gene with protein product	"Charcot-Marie-Tooth neuropathy, X-linked", "connexin 32"	304040	"gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32)"	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.807C>T	chrX.hg19:g.70444364C>T			B2R8R2|D3DVV2|Q5U0S4	Silent	SNP	ENST00000374022.3	hg19	CCDS14408.1																																																																																				0.637	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057133.1	NM_000166		T	70444364	C	T	70444364	2	4	74	1	0	0	0	0	0	0	0	1	6409	639	23	1		1	GJB1	23	70444364	Silent	SNP	C	TCGA-A4-8310-01A-11D-2396-08	29938061	70444364	84826196	74	5113											
PASD1	139135	hgsc.bcm.edu	37	X	150828200	150828200	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chrX:150828200G>T	ENST00000370357.4	+	10	978	c.733G>T	c.(733-735)Gca>Tca	p.A245S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	245						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AATTGATATTGCAGAGGTTGA	0.373																																																0													200	160	173					X																	150828200		2203	4300	6503	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.733G>T	chrX.hg19:g.150828200G>T	ENSP00000359382:p.Ala245Ser		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	hg19	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	g	8.919	0.960719	0.18583	.	.	ENSG00000166049	ENST00000370357	T	0.70399	-0.48	3.46	-4.06	0.03986	.	.	.	.	.	T	0.44850	0.1313	N	0.14661	0.345	0.09310	N	1	B	0.26876	0.162	B	0.19666	0.026	T	0.16897	-1.0387	9	0.27082	T	0.32	-10.8623	5.9292	0.19130	0.6076:0.0:0.245:0.1474	.	245	Q8IV76	PASD1_HUMAN	S	245	ENSP00000359382:A245S	ENSP00000359382:A245S	A	+	1	0	PASD1	150578856	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.030000	0.03581	-1.424000	0.01999	-0.925000	0.02716	GCA		0.373	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		T	150828200	G	T	150828200	3	4	74	1	0	0	0	0	1	0	0	0	11473	1319	46	4	767	4	PASD1	23	150828200	Missense_Mutation	SNP	G	TCGA-A4-8310-01A-11D-2396-08	80383836	150828200	4442360	75	5114											
PEX14	5195	hgsc.bcm.edu	37	1	10678475	10678475	+	Splice_Site	SNP	G	G	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr1:10678475G>A	ENST00000356607.4	+	5	464		c.e5+1		PEX14_ENST00000538836.1_Splice_Site|RN7SL614P_ENST00000461850.2_RNA	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14						microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCTACAAGGTGAGTCACCC	0.627																																																0													70	62	64					1																	10678475		2203	4300	6503	SO:0001630	splice_region_variant	5195			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.384+1G>A	chr1.hg19:g.10678475G>A			B2R7N1|B3KML6|B7Z1N2|Q8WX51	Splice_Site	SNP	ENST00000356607.4	hg19	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726384	0.89298	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.856	0.88762	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PEX14	10601062	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	9.430000	0.97488	2.195000	0.70347	0.655000	0.94253	.		0.627	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1		Intron	A	10678475	G	A	10678475	5	1	75	1	0	0	0	0	0	0	1	0	11744	1275	44	2	403	2	PEX14	1	10678475	Splice_Site	SNP	G	TCGA-A4-8311-01A-11D-2396-08		10678475	238572146	1	5115											
ZCCHC11	23318	hgsc.bcm.edu	37	1	52961169	52961169	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr1:52961169T>C	ENST00000371544.3	-	6	1458	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.Y399C|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	399					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGATGAGCCATACAACCTAAG	0.338																																																0													56	58	57					1																	52961169		2203	4299	6502	SO:0001583	missense	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1196A>G	chr1.hg19:g.52961169T>C	ENSP00000360599:p.Tyr399Cys		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	hg19	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180486	0.78677	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90494	0.7022	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.998	D	0.91443	0.5175	10	0.87932	D	0	.	15.929	0.79646	0.0:0.0:0.0:1.0	.	158;399;399	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	C	399;399;399;158	ENSP00000257177:Y399C;ENSP00000360599:Y399C;ENSP00000433486:Y399C;ENSP00000435256:Y158C	ENSP00000257177:Y399C	Y	-	2	0	ZCCHC11	52733757	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.780000	0.62382	2.243000	0.73865	0.533000	0.62120	TAT		0.338	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		C	52961169	T	C	52961169	3	2	75	1	0	0	0	0	1	0	0	0	17585	1406	49	3	3841	3	ZCCHC11	1	52961169	Missense_Mutation	SNP	T	TCGA-A4-8311-01A-11D-2396-08	42282694	52961169	196289452	2	5116											
KIDINS220	57498	hgsc.bcm.edu	37	2	8872073	8872073	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr2:8872073delA	ENST00000256707.3	-	30	4274	c.4093delT	c.(4093-4095)tccfs	p.S1365fs	KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.S1346fs|KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.S1266fs|KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.S1346fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1365					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAATCCTGGGAATTGAGACTC	0.363																																																0													81	77	78					2																	8872073		1825	4096	5921	SO:0001589	frameshift_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4093delT	chr2.hg19:g.8872073delA	ENSP00000256707:p.Ser1365fs		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Frame_Shift_Del	DEL	ENST00000256707.3	hg19	CCDS42650.1																																																																																				0.363	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		-	8872073	A	-	8872073	7	5	75	1	0	1	0	1	0	0	0	0	8273	246	9	0	1226	0	KIDINS220	2	8872073	Frame_Shift_Del	DEL	A	TCGA-A4-8311-01A-11D-2396-08		8872073	234327300	3	5117											
SRBD1	55133	hgsc.bcm.edu	37	2	45616665	45616665	+	Silent	SNP	G	G	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr2:45616665G>C	ENST00000263736.4	-	21	2834	c.2772C>G	c.(2770-2772)ggC>ggG	p.G924G	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Silent_p.G443G	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	924	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTCAACTTTGCCTGTAAGAA	0.378																																																0													66	64	64					2																	45616665		2202	4300	6502	SO:0001819	synonymous_variant	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2772C>G	chr2.hg19:g.45616665G>C			Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	hg19	CCDS1823.1																																																																																				0.378	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		C	45616665	G	C	45616665	2	2	75	1	0	0	0	0	0	0	0	1	15138	1306	46	4		4	SRBD1	2	45616665	Silent	SNP	G	TCGA-A4-8311-01A-11D-2396-08	36744592	45616665	197582708	4	5118											
ZNF514	84874	hgsc.bcm.edu	37	2	95815137	95815137	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr2:95815137A>C	ENST00000295208.2	-	5	1555	c.1093T>G	c.(1093-1095)Ttt>Gtt	p.F365V	ZNF514_ENST00000411425.1_Missense_Mutation_p.F365V|MRPS5_ENST00000475040.1_5'UTR	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						CCAGTGTGAAATCTGTAATGT	0.398																																																0													78	72	74					2																	95815137		2203	4300	6503	SO:0001583	missense	84874			AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"Zinc fingers, C2H2-type", "-"	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.1093T>G	chr2.hg19:g.95815137A>C	ENSP00000295208:p.Phe365Val		Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	hg19	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.864411	0.32977	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.28454	1.61;1.61	2.74	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08088	0.0202	N	0.00611	-1.325	0.23572	N	0.997388	B;B	0.14805	0.011;0.0	B;B	0.14578	0.011;0.002	T	0.26326	-1.0106	9	0.35671	T	0.21	.	2.3501	0.04281	0.6187:0.0:0.1395:0.2419	.	365;184	Q96K75;Q658L7	ZN514_HUMAN;.	V	365	ENSP00000295208:F365V;ENSP00000405509:F365V	ENSP00000295208:F365V	F	-	1	0	ZNF514	95178864	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	0.606000	0.24194	0.454000	0.26884	0.533000	0.62120	TTT		0.398	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		C	95815137	A	C	95815137	3	2	75	1	0	0	0	0	1	0	0	0	17964	101	4	5	113	5	ZNF514	2	95815137	Missense_Mutation	SNP	A	TCGA-A4-8311-01A-11D-2396-08	50198472	95815137	147384236	5	5119											
SF3B1	23451	hgsc.bcm.edu	37	2	198266726	198266726	+	Missense_Mutation	SNP	G	G	T	rs78164940		TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr2:198266726G>T	ENST00000335508.6	-	15	2297	c.2206C>A	c.(2206-2208)Cgc>Agc	p.R736S	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	736					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R736C(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGTGTTGGCGGATACCCTTC	0.373			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	1	Substitution - Missense(1)	endometrium(1)											92	88	89					2																	198266726		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2206C>A	chr2.hg19:g.198266726G>T	ENSP00000335321:p.Arg736Ser		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	hg19	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006500	0.54361	.	.	ENSG00000115524	ENST00000335508	T	0.63913	-0.07	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.76574	2.34	0.80722	D	1	B	0.33857	0.429	B	0.36335	0.222	T	0.69525	-0.5122	10	0.52906	T	0.07	.	19.3674	0.94469	0.0:0.0:1.0:0.0	.	736	O75533	SF3B1_HUMAN	S	736	ENSP00000335321:R736S	ENSP00000335321:R736S	R	-	1	0	SF3B1	197974971	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.892000	0.56235	2.567000	0.86603	0.650000	0.86243	CGC		0.373	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			T	198266726	G	T	198266726	3	4	75	1	0	0	0	0	1	0	0	0	14155	1116	39	4	1752	4	SF3B1	2	198266726	Missense_Mutation	SNP	G	TCGA-A4-8311-01A-11D-2396-08	102451589	198266726	44932647	6	5120											
UGT1A3	54659	hgsc.bcm.edu	37	2	234638329	234638329	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr2:234638329A>G	ENST00000482026.1	+	1	576	c.557A>G	c.(556-558)cAg>cGg	p.Q186R	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.Q186R|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	186					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	AAGGGCACACAGTGTCCAAAC	0.458																																																0													184	182	183					2																	234638329		2203	4300	6503	SO:0001583	missense	54659			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.557A>G	chr2.hg19:g.234638329A>G	ENSP00000418532:p.Gln186Arg		B8K287	Missense_Mutation	SNP	ENST00000482026.1	hg19	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	a	8.706	0.910893	0.17833	.	.	ENSG00000243135	ENST00000482026	T	0.61392	0.11	4.13	-0.128	0.13506	.	.	.	.	.	T	0.52403	0.1732	L	0.41961	1.31	0.26480	N	0.975128	P;P	0.38863	0.65;0.65	P;P	0.49140	0.601;0.601	T	0.46275	-0.9203	9	0.13108	T	0.6	.	6.8323	0.23917	0.6376:0.2835:0.0789:0.0	.	186;186	Q5DT01;P35503	.;UD13_HUMAN	R	186	ENSP00000418532:Q186R	ENSP00000418532:Q186R	Q	+	2	0	UGT1A3	234303068	0.618000	0.27051	0.013000	0.15412	0.284000	0.27059	2.244000	0.43124	-0.332000	0.08489	-0.359000	0.07587	CAG		0.458	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		G	234638329	A	G	234638329	3	3	75	1	0	0	0	0	1	0	0	0	16951	188	7	3	559	3	UGT1A3	2	234638329	Missense_Mutation	SNP	A	TCGA-A4-8311-01A-11D-2396-08	36371603	234638329	8561044	7	5121											
SCLY	51540	hgsc.bcm.edu	37	2	238990470	238990470	+	Missense_Mutation	SNP	T	T	C	rs548740545		TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr2:238990470T>C	ENST00000555827.1	+	5	669	c.605T>C	c.(604-606)aTt>aCt	p.I202T	SCLY_ENST00000373332.3_Missense_Mutation_p.I120T|SCLY_ENST00000254663.6_Missense_Mutation_p.I210T|SCLY_ENST00000409736.2_Missense_Mutation_p.I202T|SCLY_ENST00000422984.2_Missense_Mutation_p.I108T|SCLY_ENST00000429612.2_Intron			Q96I15	SCLY_HUMAN	selenocysteine lyase	202					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		GAGACTGGCATTGTCATGGTG	0.572													T|||	1	0.000199681	0.0	0.0	5008	,	,		19116	0.0		0.0	False		,,,				2504	0.001				Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)											0													95	77	83					2																	238990470		2203	4300	6503	SO:0001583	missense	51540			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"putative selenocysteine lyase"	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.605T>C	chr2.hg19:g.238990470T>C	ENSP00000450613:p.Ile202Thr		B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	hg19		.	.	.	.	.	.	.	.	.	.	T	5.647	0.303939	0.10678	.	.	ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.84	4.67	0.58626	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.126390	0.52532	D	0.000062	T	0.61874	0.2382	N	0.00996	-1.065	0.80722	D	1	B;B;B	0.24043	0.036;0.096;0.006	B;B;B	0.31751	0.132;0.135;0.016	T	0.61426	-0.7065	10	0.02654	T	1	-27.8716	12.3833	0.55320	0.0:0.0:0.1409:0.8591	.	108;202;202	E7ESG3;Q96I15;Q96I15-2	.;SCLY_HUMAN;.	T	210;202;120;116;202;108;32	ENSP00000254663:I210T;ENSP00000450613:I202T;ENSP00000362429:I120T;ENSP00000414165:I116T;ENSP00000387162:I202T;ENSP00000416865:I108T;ENSP00000414053:I32T	ENSP00000254663:I202T	I	+	2	0	SCLY	238655209	1.000000	0.71417	0.002000	0.10522	0.045000	0.14185	7.953000	0.87836	1.020000	0.39573	0.533000	0.62120	ATT		0.572	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		C	238990470	T	C	238990470	3	2	75	1	0	0	0	0	1	0	0	0	13913	1493	52	3	623	3	SCLY	2	238990470	Missense_Mutation	SNP	T	TCGA-A4-8311-01A-11D-2396-08	4352141	238990470	4208903	8	5122											
ANKRD28	23243	hgsc.bcm.edu	37	3	15751227	15751227	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr3:15751227T>C	ENST00000399451.2	-	13	1631	c.1264A>G	c.(1264-1266)Aac>Gac	p.N422D	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.N455D	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	422						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AGCAGAAGGTTTAGGCACTCC	0.323																																																0													68	60	62					3																	15751227		1816	4070	5886	SO:0001583	missense	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1264A>G	chr3.hg19:g.15751227T>C	ENSP00000382379:p.Asn422Asp		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	hg19	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992948	0.54041	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.63744	-0.06;-0.06;-0.06	5.96	5.96	0.96718	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	N	0.05608	-0.01	0.80722	D	1	B;B;B	0.19817	0.039;0.019;0.003	B;B;B	0.20184	0.028;0.012;0.013	T	0.34950	-0.9808	10	0.32370	T	0.25	.	16.4311	0.83844	0.0:0.0:0.0:1.0	.	455;452;422	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	D	422;455;422	ENSP00000382379:N422D;ENSP00000373287:N455D;ENSP00000397341:N422D	ENSP00000373287:N455D	N	-	1	0	ANKRD28	15726231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.972000	0.88022	2.277000	0.76020	0.528000	0.53228	AAC		0.323	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		C	15751227	T	C	15751227	3	2	75	1	0	0	0	0	1	0	0	0	656	1841	64	3	1961	3	ANKRD28	3	15751227	Missense_Mutation	SNP	T	TCGA-A4-8311-01A-11D-2396-08		15751227	182271203	9	5123											
SACM1L	22908	hgsc.bcm.edu	37	3	45780273	45780273	+	Splice_Site	SNP	G	G	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr3:45780273G>A	ENST00000389061.5	+	18	1681	c.1477G>A	c.(1477-1479)Gat>Aat	p.D493N	SACM1L_ENST00000418611.1_Splice_Site_p.D390N|SACM1L_ENST00000541314.1_Splice_Site_p.D432N	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	493					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TCTGTTCTAGGATTCCATAGA	0.363																																																0													145	139	141					3																	45780273		2203	4300	6503	SO:0001630	splice_region_variant	22908			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1477-1G>A	chr3.hg19:g.45780273G>A			A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	hg19	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226777	0.95173	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314;ENST00000433336	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	6.05	6.05	0.98169	.	0.091827	0.85682	D	0.000000	T	0.27629	0.0679	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.995	D;D;P	0.87578	0.918;0.998;0.831	T	0.00063	-1.2155	9	.	.	.	-4.7089	13.7549	0.62930	0.0698:0.0:0.9302:0.0	.	432;136;493	B4DK71;B3KX17;Q9NTJ5	.;.;SAC1_HUMAN	N	390;493;432;170	ENSP00000396387:D390N;ENSP00000373713:D493N;ENSP00000443373:D432N;ENSP00000412883:D170N	.	D	+	1	0	SACM1L	45755277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.455000	0.80726	2.878000	0.98634	0.650000	0.86243	GAT		0.363	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016	Missense_Mutation	A	45780273	G	A	45780273	5	1	75	1	0	0	0	0	0	0	1	0	13809	1188	41	2	1547	2	SACM1L	3	45780273	Splice_Site	SNP	G	TCGA-A4-8311-01A-11D-2396-08	30029046	45780273	152242157	10	5124											
ACPL2	92370	hgsc.bcm.edu	37	3	140979087	140979087	+	Missense_Mutation	SNP	C	C	A	rs367551091	byFrequency	TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr3:140979087C>A	ENST00000286353.4	+	2	207	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	ACPL2_ENST00000393010.2_Missense_Mutation_p.L24M|ACPL2_ENST00000502783.1_5'UTR|ACPL2_ENST00000504264.1_5'Flank	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		24						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GAGCCTCAGCCTGCAGTTCTG	0.517																																																0													49	56	53					3																	140979087		2203	4300	6503	SO:0001583	missense	92370																														ENST00000286353.4:c.70C>A	chr3.hg19:g.140979087C>A	ENSP00000286353:p.Leu24Met		D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	hg19	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845120	0.51164	.	.	ENSG00000155893	ENST00000505013;ENST00000286353;ENST00000393010;ENST00000514680	T;T	0.25085	1.82;1.82	5.87	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.42832	-0.9428	10	0.49607	T	0.09	.	13.2927	0.60280	0.0:0.9233:0.0:0.0767	.	24	Q8TE99	ACPL2_HUMAN	M	24	ENSP00000286353:L24M;ENSP00000376733:L24M	ENSP00000286353:L24M	L	+	1	2	ACPL2	142461777	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.962000	0.63687	1.628000	0.50416	-0.150000	0.13652	CTG		0.517	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			A	140979087	C	A	140979087	3	1	75	1	0	0	0	0	1	0	0	0	166	680	24	4	72	4	ACPL2	3	140979087	Missense_Mutation	SNP	C	TCGA-A4-8311-01A-11D-2396-08	95198814	140979087	57043343	11	5125											
ZNF721	170960	hgsc.bcm.edu	37	4	437056	437056	+	Silent	SNP	A	A	G			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr4:437056A>G	ENST00000338977.5	-	2	1212	c.1164T>C	c.(1162-1164)agT>agC	p.S388S	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.S400S			Q8TF20	ZN721_HUMAN	zinc finger protein 721	388				NS -> VC (in Ref. 1; CAH10687). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GGTTTGTTGAACTATTAAAGG	0.428																																																0													92	96	95					4																	437056		2109	4254	6363	SO:0001819	synonymous_variant	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1164T>C	chr4.hg19:g.437056A>G			Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	hg19																																																																																					0.428	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		G	437056	A	G	437056	2	3	75	1	0	0	0	0	0	0	0	1	18127	40	2	3		3	ZNF721	4	437056	Silent	SNP	A	TCGA-A4-8311-01A-11D-2396-08		437056	190717220	12	5126											
SLC26A1	10861	hgsc.bcm.edu	37	4	983983	983983	+	Silent	SNP	T	T	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr4:983983T>C	ENST00000361661.2	-	4	1121	c.744A>G	c.(742-744)acA>acG	p.T248T	SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398516.2_Silent_p.T248T|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	248					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCTCAGCCATGTGAGGACCA	0.697																																																0													10	12	11					4																	983983		2134	4181	6315	SO:0001819	synonymous_variant	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.744A>G	chr4.hg19:g.983983T>C			A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	ENST00000361661.2	hg19	CCDS33934.1																																																																																				0.697	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		C	983983	T	C	983983	2	2	75	1	0	0	0	0	0	0	0	1	14520	1451	51	3		3	SLC26A1	4	983983	Silent	SNP	T	TCGA-A4-8311-01A-11D-2396-08	546927	983983	190170293	13	5127											
SH3BP2	6452	hgsc.bcm.edu	37	4	2824664	2824664	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr4:2824664C>T	ENST00000356331.5	+	3	400	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	SH3BP2_ENST00000452765.2_Missense_Mutation_p.P47S|SH3BP2_ENST00000442312.2_Missense_Mutation_p.P75S|SH3BP2_ENST00000511747.1_Missense_Mutation_p.P47S|SH3BP2_ENST00000503393.2_Missense_Mutation_p.P104S|SH3BP2_ENST00000435136.2_Missense_Mutation_p.P47S|SH3BP2_ENST00000389838.2_Missense_Mutation_p.P47S	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	47	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)	p.P47S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TCCCACAGGGCCCCTGCGCTT	0.627									Cherubism																																							1	Substitution - Missense(1)	prostate(1)											64	52	56					4																	2824664		2203	4300	6503	SO:0001583	missense	6452	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.139C>T	chr4.hg19:g.2824664C>T	ENSP00000348685:p.Pro47Ser		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	hg19	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553572	0.65425	.	.	ENSG00000087266	ENST00000452765;ENST00000389838;ENST00000503219;ENST00000504294;ENST00000508385;ENST00000512014;ENST00000513095;ENST00000442312;ENST00000502260;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	T;T;T;T;T;T;T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	3.94	3.94	0.45596	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	L	0.31207	0.915	0.58432	D	0.999997	P;D;P;P	0.61080	0.863;0.989;0.939;0.939	P;D;P;P	0.64595	0.524;0.927;0.666;0.666	T	0.02877	-1.1099	10	0.52906	T	0.07	-4.9102	15.9158	0.79517	0.0:1.0:0.0:0.0	.	75;75;104;47	B4DT04;B7Z9B6;D6R919;P78314	.;.;.;3BP2_HUMAN	S	47;47;47;47;47;47;47;75;47;47;47;104;47	ENSP00000409746:P47S;ENSP00000374488:P47S;ENSP00000422796:P47S;ENSP00000423275:P47S;ENSP00000424917:P47S;ENSP00000424105:P47S;ENSP00000423823:P47S;ENSP00000388152:P75S;ENSP00000425537:P47S;ENSP00000403231:P47S;ENSP00000424846:P47S;ENSP00000422168:P104S;ENSP00000348685:P47S	ENSP00000348685:P47S	P	+	1	0	SH3BP2	2794462	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.870000	0.75526	1.927000	0.55829	0.491000	0.48974	CCC		0.627	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		T	2824664	C	T	2824664	3	4	75	1	0	0	0	0	1	0	0	0	14251	739	26	2	404	2	SH3BP2	4	2824664	Missense_Mutation	SNP	C	TCGA-A4-8311-01A-11D-2396-08	1840681	2824664	188329612	14	5128											
MFSD10	10227	hgsc.bcm.edu	37	4	2934166	2934166	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr4:2934166A>G	ENST00000329687.4	-	5	1139	c.605T>C	c.(604-606)aTg>aCg	p.M202T	MFSD10_ENST00000507555.1_Missense_Mutation_p.M202T|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000508221.1_Missense_Mutation_p.M202T|MFSD10_ENST00000355443.4_Missense_Mutation_p.M202T|MFSD10_ENST00000514800.1_Missense_Mutation_p.M202T	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	202					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCAGGGTGCCATTTCCAGGGG	0.632																																																0													52	58	56					4																	2934166		2203	4300	6503	SO:0001583	missense	10227			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.605T>C	chr4.hg19:g.2934166A>G	ENSP00000332646:p.Met202Thr		Q07706	Missense_Mutation	SNP	ENST00000329687.4	hg19	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	A	0.137	-1.106537	0.01828	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	4.69	-2.4	0.06583	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.719668	0.14277	N	0.329747	T	0.14141	0.0342	N	0.00890	-1.11	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.23762	-1.0179	10	0.15066	T	0.55	-26.4194	2.158	0.03818	0.4585:0.122:0.2967:0.1227	.	202;202;202;202	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	T	202	ENSP00000426907:M202T;ENSP00000347619:M202T;ENSP00000332646:M202T;ENSP00000425757:M202T;ENSP00000423402:M202T	ENSP00000332646:M202T	M	-	2	0	MFSD10	2903964	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.615000	0.05597	-0.477000	0.06832	-0.417000	0.06048	ATG		0.632	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		G	2934166	A	G	2934166	3	3	75	1	0	0	0	0	1	0	0	0	9530	217	8	3	794	3	MFSD10	4	2934166	Missense_Mutation	SNP	A	TCGA-A4-8311-01A-11D-2396-08	109502	2934166	188220110	15	5129											
COL25A1	84570	hgsc.bcm.edu	37	4	109817832	109817832	+	Silent	SNP	T	T	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr4:109817832T>C	ENST00000399132.1	-	16	1427	c.897A>G	c.(895-897)acA>acG	p.T299T	COL25A1_ENST00000399126.1_Silent_p.T299T|COL25A1_ENST00000399127.1_Silent_p.T295T	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTTTTCGCCTGTGTCACCCT	0.418																																																0													128	123	124					4																	109817832		1892	4115	6007	SO:0001819	synonymous_variant	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.897A>G	chr4.hg19:g.109817832T>C				Silent	SNP	ENST00000399132.1	hg19	CCDS43258.1																																																																																				0.418	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		C	109817832	T	C	109817832	2	2	75	1	0	0	0	0	0	0	0	1	3686	1567	55	3		3	COL25A1	4	109817832	Silent	SNP	T	TCGA-A4-8311-01A-11D-2396-08	106883666	109817832	81336444	16	5130											
SLCO6A1	133482	hgsc.bcm.edu	37	5	101834204	101834204	+	Silent	SNP	C	C	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr5:101834204C>A	ENST00000506729.1	-	1	516	c.345G>T	c.(343-345)ctG>ctT	p.L115L	SLCO6A1_ENST00000513675.1_Silent_p.L115L|SLCO6A1_ENST00000379807.3_Silent_p.L115L|SLCO6A1_ENST00000389019.3_Silent_p.L115L|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Silent_p.L115L|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	115	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GACATATGAGCAGGATGCAGT	0.572																																																0													59	60	60					5																	101834204		2203	4300	6503	SO:0001819	synonymous_variant	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.345G>T	chr5.hg19:g.101834204C>A			A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	hg19	CCDS34206.1																																																																																				0.572	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		A	101834204	C	A	101834204	2	1	75	1	0	0	0	0	0	0	0	1	14738	697	25	4		4	SLCO6A1	5	101834204	Silent	SNP	C	TCGA-A4-8311-01A-11D-2396-08		101834204	79081056	17	5131											
IL9	3578	hgsc.bcm.edu	37	5	135228124	135228124	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr5:135228124T>C	ENST00000274520.1	-	5	401	c.391A>G	c.(391-393)Att>Gtt	p.I131V		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	131					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCTGGAAAATTTCCAGAAGA	0.368																																																0													66	73	71					5																	135228124		2203	4300	6503	SO:0001583	missense	3578			S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"Interleukins and interleukin receptors"	6029	protein-coding gene	gene with protein product	"p40 T-cell and mast cell growth factor", "T-cell growth factor p40", "p40 cytokine", "homolog of mouse T cell and mast cell growth factor 40"	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.391A>G	chr5.hg19:g.135228124T>C	ENSP00000274520:p.Ile131Val			Missense_Mutation	SNP	ENST00000274520.1	hg19	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	T	0.246	-1.010364	0.02095	.	.	ENSG00000145839	ENST00000274520	T	0.42131	0.98	5.48	-7.84	0.01196	.	1.696530	0.03303	N	0.189306	T	0.12944	0.0314	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25916	-1.0118	10	0.08179	T	0.78	-2.0474	8.7041	0.34343	0.0:0.3821:0.1035:0.5144	.	131	P15248	IL9_HUMAN	V	131	ENSP00000274520:I131V	ENSP00000274520:I131V	I	-	1	0	IL9	135256023	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.778000	0.04664	-1.878000	0.01128	-1.601000	0.00813	ATT		0.368	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		C	135228124	T	C	135228124	3	2	75	1	0	0	0	0	1	0	0	0	7709	1493	52	3	47	3	IL9	5	135228124	Missense_Mutation	SNP	T	TCGA-A4-8311-01A-11D-2396-08	33393920	135228124	45687136	18	5132											
SLC35A4	113829	hgsc.bcm.edu	37	5	139947279	139947279	+	Silent	SNP	T	T	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr5:139947279T>A	ENST00000514199.1	+	2	2211	c.525T>A	c.(523-525)gcT>gcA	p.A175A	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Silent_p.A175A			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	175	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCAGCTGCTGCCAGCC	0.622																																																0													59	57	58					5																	139947279		2203	4300	6503	SO:0001819	synonymous_variant	113829			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"Solute carriers"	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.525T>A	chr5.hg19:g.139947279T>A			A8K013	Silent	SNP	ENST00000514199.1	hg19	CCDS4231.1																																																																																				0.622	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		A	139947279	T	A	139947279	2	1	75	1	0	0	0	0	0	0	0	1	14579	1567	55	5		5	SLC35A4	5	139947279	Silent	SNP	T	TCGA-A4-8311-01A-11D-2396-08	4719155	139947279	40967981	19	5133											
TREM2	54209	hgsc.bcm.edu	37	6	41129014	41129014	+	Silent	SNP	C	C	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr6:41129014C>T	ENST00000373113.3	-	2	471	c.378G>A	c.(376-378)gtG>gtA	p.V126V	TREM2_ENST00000338469.3_Silent_p.V126V|TREM2_ENST00000373122.4_Silent_p.V126V	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	126					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGCACCTCCACCAGGACCT	0.612																																																0													43	41	42					6																	41129014		2203	4300	6503	SO:0001819	synonymous_variant	54209			AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"Immunoglobulin superfamily / V-set domain containing"	17761	protein-coding gene	gene with protein product		605086	"triggering receptor expressed on myeloid cells 2a"			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.378G>A	chr6.hg19:g.41129014C>T			Q8N5H8|Q8WYN6	Silent	SNP	ENST00000373113.3	hg19	CCDS4852.1																																																																																				0.612	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965		T	41129014	C	T	41129014	2	4	75	1	0	0	0	0	0	0	0	1	16476	581	21	2		2	TREM2	6	41129014	Silent	SNP	C	TCGA-A4-8311-01A-11D-2396-08		41129014	129986053	20	5134											
TJAP1	93643	hgsc.bcm.edu	37	6	43466779	43466779	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr6:43466779G>C	ENST00000372445.5	+	4	416	c.40G>C	c.(40-42)Gca>Cca	p.A14P	TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372452.1_Missense_Mutation_p.A14P|TJAP1_ENST00000372449.1_Missense_Mutation_p.A14P|TJAP1_ENST00000259751.1_Missense_Mutation_p.A14P|TJAP1_ENST00000438588.2_Missense_Mutation_p.A14P|TJAP1_ENST00000372444.2_Missense_Mutation_p.A14P|TJAP1_ENST00000436109.2_Missense_Mutation_p.A14P	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	14					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.A14S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTACCGTAAGGCACCACCAGA	0.587																																																1	Substitution - Missense(1)	lung(1)											92	77	82					6																	43466779		2203	4300	6503	SO:0001583	missense	93643			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.40G>C	chr6.hg19:g.43466779G>C	ENSP00000361522:p.Ala14Pro		Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	hg19	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300029	0.95574	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.60188	-0.7312	10	0.87932	D	0	-0.0171	17.1606	0.86802	0.0:0.0:1.0:0.0	.	14;14;14	E2QRK7;Q5JTD0;Q5JTD0-2	.;TJAP1_HUMAN;.	P	14	ENSP00000361521:A14P;ENSP00000361522:A14P;ENSP00000407080:A14P;ENSP00000390981:A14P;ENSP00000259751:A14P;ENSP00000361530:A14P;ENSP00000361527:A14P;ENSP00000408769:A14P	ENSP00000259751:A14P	A	+	1	0	TJAP1	43574757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.903000	0.87398	2.495000	0.84180	0.655000	0.94253	GCA		0.587	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		C	43466779	G	C	43466779	3	2	75	1	0	0	0	0	1	0	0	0	15933	1203	42	4	42	4	TJAP1	6	43466779	Missense_Mutation	SNP	G	TCGA-A4-8311-01A-11D-2396-08	2337765	43466779	127648288	21	5135											
WDR91	29062	hgsc.bcm.edu	37	7	134873248	134873248	+	Silent	SNP	C	C	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr7:134873248C>T	ENST00000354475.4	-	13	1849	c.1818G>A	c.(1816-1818)gaG>gaA	p.E606E	WDR91_ENST00000423565.1_Silent_p.E571E|WDR91_ENST00000344400.5_Intron	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	606										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGAGTAGACCTCCCCGTAGT	0.592																																																0													177	161	167					7																	134873248		2203	4300	6503	SO:0001819	synonymous_variant	29062			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1818G>A	chr7.hg19:g.134873248C>T			A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	hg19	CCDS34758.1																																																																																				0.592	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		T	134873248	C	T	134873248	2	4	75	1	0	0	0	0	0	0	0	1	17343	680	24	2		2	WDR91	7	134873248	Silent	SNP	C	TCGA-A4-8311-01A-11D-2396-08		134873248	24265415	22	5136											
VCPIP1	80124	hgsc.bcm.edu	37	8	67577113	67577113	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr8:67577113A>G	ENST00000310421.4	-	1	2339	c.2081T>C	c.(2080-2082)cTt>cCt	p.L694P	C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	694					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGTCCAGTAAGAATAATTTT	0.373																																					NSCLC(179;265 2915 6144 43644)											0													133	142	139					8																	67577113		2203	4300	6503	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2081T>C	chr8.hg19:g.67577113A>G	ENSP00000309031:p.Leu694Pro		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	hg19	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.036462	0.54896	.	.	ENSG00000175073	ENST00000310421	T	0.46063	0.88	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.64778	-0.6327	10	0.87932	D	0	-11.0176	15.447	0.75238	1.0:0.0:0.0:0.0	.	694	Q96JH7	VCIP1_HUMAN	P	694	ENSP00000309031:L694P	ENSP00000309031:L694P	L	-	2	0	VCPIP1	67739667	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.244000	0.95423	2.091000	0.63221	0.533000	0.62120	CTT		0.373	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			G	67577113	A	G	67577113	3	3	75	1	0	0	0	0	1	0	0	0	17146	72	3	3	1599	3	VCPIP1	8	67577113	Missense_Mutation	SNP	A	TCGA-A4-8311-01A-11D-2396-08		67577113	78786909	23	5137											
TAF2	6873	hgsc.bcm.edu	37	8	120816142	120816142	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr8:120816142G>A	ENST00000378164.2	-	5	834	c.536C>T	c.(535-537)tCt>tTt	p.S179F		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	179					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATACCCACAAGAGAAAACATG	0.333																																																0													138	140	139					8																	120816142		2203	4300	6503	SO:0001583	missense	6873			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.536C>T	chr8.hg19:g.120816142G>A	ENSP00000367406:p.Ser179Phe		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	hg19	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198064	0.94997	.	.	ENSG00000064313	ENST00000378164	T	0.05855	3.38	5.89	5.89	0.94794	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.00024	-1.2327	10	0.87932	D	0	-13.5961	20.2617	0.98447	0.0:0.0:1.0:0.0	.	179	Q6P1X5	TAF2_HUMAN	F	179	ENSP00000367406:S179F	ENSP00000367406:S179F	S	-	2	0	TAF2	120885323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.814000	0.99346	2.793000	0.96121	0.655000	0.94253	TCT		0.333	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		A	120816142	G	A	120816142	3	1	75	1	0	0	0	0	1	0	0	0	15529	942	33	2	3151	2	TAF2	8	120816142	Missense_Mutation	SNP	G	TCGA-A4-8311-01A-11D-2396-08	53239029	120816142	25547880	24	5138											
TNFSF15	9966	hgsc.bcm.edu	37	9	117552848	117552848	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr9:117552848G>A	ENST00000374045.4	-	4	753	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F	TNFSF15_ENST00000374044.1_Missense_Mutation_p.L137F|AL390240.1_ENST00000408807.1_RNA	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	214					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						ATGGCTCCGAGGTAGATGGGC	0.493																																																0													155	135	142					9																	117552848		2203	4300	6503	SO:0001583	missense	9966			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"Tumor necrosis factor (ligand) superfamily"	11931	protein-coding gene	gene with protein product	"vascular endothelial cell growth inhibitor", "TNF superfamily ligand TL1A", "TNF ligand-related molecule 1", "vascular endothelial growth inhibitor-192A"	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.640C>T	chr9.hg19:g.117552848G>A	ENSP00000363157:p.Leu214Phe		Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	hg19	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299347	0.60195	.	.	ENSG00000181634	ENST00000374045;ENST00000374044	T;T	0.67523	-0.27;-0.27	6.03	4.2	0.49525	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.64402	D	0.000009	T	0.77896	0.4199	M	0.73372	2.23	0.46203	D	0.998926	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76539	-0.2922	10	0.48119	T	0.1	-26.8042	8.9914	0.36026	0.3322:0.0:0.6678:0.0	.	214;155	O95150;O95150-2	TNF15_HUMAN;.	F	214;137	ENSP00000363157:L214F;ENSP00000363156:L137F	ENSP00000363156:L137F	L	-	1	0	TNFSF15	116592669	0.994000	0.37717	0.997000	0.53966	0.967000	0.64934	0.902000	0.28459	0.885000	0.36088	0.655000	0.94253	CTC		0.493	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		A	117552848	G	A	117552848	3	1	75	1	0	0	0	0	1	0	0	0	16313	1000	35	2	119	2	TNFSF15	9	117552848	Missense_Mutation	SNP	G	TCGA-A4-8311-01A-11D-2396-08		117552848	23660583	25	5139											
PIP5KL1	138429	hgsc.bcm.edu	37	9	130684238	130684238	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr9:130684238C>T	ENST00000388747.4	-	10	1117	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q	PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R155Q	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	358	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GTGCTCCAGCCGCTTGCGGAG	0.687											OREG0019512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													21	21	21					9																	130684238		2183	4276	6459	SO:0001583	missense	138429			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.1073G>A	chr9.hg19:g.130684238C>T	ENSP00000373399:p.Arg358Gln	1582	Q8IVS3	Missense_Mutation	SNP	ENST00000388747.4	hg19	CCDS48030.1	.	.	.	.	.	.	.	.	.	.	C	36	5.911299	0.97093	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.35605	1.3;1.3	5.32	5.32	0.75619	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.56013	-0.8049	10	0.87932	D	0	-38.4281	16.4798	0.84155	0.0:1.0:0.0:0.0	.	358	Q5T9C9	PI5L1_HUMAN	Q	358;155	ENSP00000373399:R358Q;ENSP00000300432:R155Q	ENSP00000300432:R155Q	R	-	2	0	PIP5KL1	129724059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.211000	0.51137	2.473000	0.83533	0.555000	0.69702	CGG		0.687	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		T	130684238	C	T	130684238	3	4	75	1	0	0	0	0	1	0	0	0	11944	652	23	1	115	1	PIP5KL1	9	130684238	Missense_Mutation	SNP	C	TCGA-A4-8311-01A-11D-2396-08	13131390	130684238	10529193	26	5140											
C9orf69	90120	hgsc.bcm.edu	37	9	139008421	139008421	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr9:139008421C>T	ENST00000418388.1	-	2	828	c.326G>A	c.(325-327)cGc>cAc	p.R109H	C9orf69_ENST00000561457.1_Missense_Mutation_p.A134T			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	109					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GTTCACCAGGCGGAAGTCCAC	0.657																																																0													13	18	16					9																	139008421		2159	4244	6403	SO:0001583	missense	90120				CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.326G>A	chr9.hg19:g.139008421C>T	ENSP00000453019:p.Arg109His			Missense_Mutation	SNP	ENST00000418388.1	hg19	CCDS59155.1																																																																																				0.657	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		T	139008421	C	T	139008421	3	4	75	1	0	0	0	0	1	0	0	0	2494	768	27	1	11	1	C9orf69	9	139008421	Missense_Mutation	SNP	C	TCGA-A4-8311-01A-11D-2396-08	8324183	139008421	2205010	27	5141											
TMEM72	643236	hgsc.bcm.edu	37	10	45429133	45429133	+	5'UTR	SNP	G	G	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr10:45429133G>C	ENST00000544540.1	+	0	388				TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72							integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						AAGCCCACTGGCTGGGCTGCT	0.602																																																0													54	58	57					10																	45429133		1568	3582	5150	SO:0001623	5_prime_UTR_variant	643236			AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 127"	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.-97G>C	chr10.hg19:g.45429133G>C			A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.68	3.448729	0.63178	.	.	ENSG00000187783	ENST00000389583	.	.	.	5.59	4.68	0.58851	.	0.407067	0.24354	N	0.039259	T	0.67439	0.2893	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	T	0.65512	-0.6150	9	0.42905	T	0.14	-9.242	9.7258	0.40330	0.0925:0.0:0.9075:0.0	.	86	A0PK05	TMM72_HUMAN	C	86	.	ENSP00000374234:W86C	W	+	3	0	TMEM72	44749139	0.995000	0.38212	1.000000	0.80357	0.867000	0.49689	0.969000	0.29370	2.793000	0.96121	0.655000	0.94253	TGG		0.602	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		C	45429133	G	C	45429133	1	2	75	0	1	0	0	0	0	0	0	0	16206	1212	42	4		4	TMEM72	10	45429133	5'UTR	SNP	G	TCGA-A4-8311-01A-11D-2396-08		45429133	90105614	28	5142											
GOLGA7B	401647	hgsc.bcm.edu	37	10	99619286	99619286	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr10:99619286C>A	ENST00000370602.1	+	2	149	c.84C>A	c.(82-84)agC>agA	p.S28R		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	28						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						GAGACTACAGCGATGGGACCA	0.577																																																0													84	78	80					10																	99619286		2203	4300	6503	SO:0001583	missense	401647			BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"chromosome 10 open reading frame 133", "chromosome 10 open reading frame 132", "golgi autoantigen, golgin subfamily a, 7B"	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.84C>A	chr10.hg19:g.99619286C>A	ENSP00000359634:p.Ser28Arg		Q5T4F5	Missense_Mutation	SNP	ENST00000370602.1	hg19	CCDS31265.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369353	0.61624	.	.	ENSG00000155265	ENST00000370602	.	.	.	4.89	0.791	0.18619	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.70903	2.155	0.53688	D	0.999974	D	0.54397	0.966	P	0.54026	0.74	T	0.60239	-0.7302	9	0.48119	T	0.1	-36.6947	8.5642	0.33530	0.0:0.3739:0.0:0.6261	.	28	Q2TAP0	GOG7B_HUMAN	R	28	.	ENSP00000359634:S28R	S	+	3	2	GOLGA7B	99609276	0.000000	0.05858	0.998000	0.56505	0.998000	0.95712	-2.574000	0.00911	-0.012000	0.14223	0.555000	0.69702	AGC		0.577	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	NM_001010917		A	99619286	C	A	99619286	3	1	75	1	0	0	0	0	1	0	0	0	6564	767	27	4	90	4	GOLGA7B	10	99619286	Missense_Mutation	SNP	C	TCGA-A4-8311-01A-11D-2396-08	54190153	99619286	35915461	29	5143											
PDZD8	118987	hgsc.bcm.edu	37	10	119049814	119049814	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr10:119049814G>C	ENST00000334464.5	-	4	1383	c.1144C>G	c.(1144-1146)Cgt>Ggt	p.R382G	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	382	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGGACAAGACGAAGTGTAAGT	0.413																																																0													110	99	103					10																	119049814		2203	4300	6503	SO:0001583	missense	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1144C>G	chr10.hg19:g.119049814G>C	ENSP00000334642:p.Arg382Gly		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	hg19	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547054	0.65198	.	.	ENSG00000165650	ENST00000334464	T	0.72051	-0.62	5.6	3.73	0.42828	PDZ/DHR/GLGF (4);	0.053775	0.64402	D	0.000001	T	0.57036	0.2026	L	0.27053	0.805	0.47584	D	0.999469	B	0.17038	0.02	B	0.21360	0.034	T	0.53830	-0.8383	10	0.72032	D	0.01	-3.528	9.9287	0.41507	0.0732:0.1379:0.7889:0.0	.	382	Q8NEN9	PDZD8_HUMAN	G	382	ENSP00000334642:R382G	ENSP00000334642:R382G	R	-	1	0	PDZD8	119039804	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.392000	0.59659	0.716000	0.32124	0.563000	0.77884	CGT		0.413	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		C	119049814	G	C	119049814	3	2	75	1	0	0	0	0	1	0	0	0	11707	1058	37	4	2328	4	PDZD8	10	119049814	Missense_Mutation	SNP	G	TCGA-A4-8311-01A-11D-2396-08	19430528	119049814	16484933	30	5144											
MUC5B	727897	hgsc.bcm.edu	37	11	1275533	1275533	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr11:1275533G>C	ENST00000529681.1	+	34	15487	c.15429G>C	c.(15427-15429)atG>atC	p.M5143I	MUC5B_ENST00000447027.1_Missense_Mutation_p.M5146I	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5143	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAAGTCCATGGATATCGTCC	0.642																																																0													34	41	39					11																	1275533		2164	4260	6424	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15429G>C	chr11.hg19:g.1275533G>C	ENSP00000436812:p.Met5143Ile		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789191	0.31685	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.15952	2.38;2.58	4.31	-3.06	0.05379	.	.	.	.	.	T	0.09113	0.0225	L	0.29908	0.895	0.09310	N	1	P;P	0.34462	0.454;0.454	B;B	0.31191	0.125;0.125	T	0.29792	-1.0000	9	0.87932	D	0	.	2.4091	0.04420	0.4222:0.118:0.3402:0.1197	.	5480;5146	A7Y9J9;E9PBJ0	.;.	I	5143;5146;5087;42;4855	ENSP00000436812:M5143I;ENSP00000415793:M5146I	ENSP00000343037:M5087I	M	+	3	0	MUC5B	1232109	0.000000	0.05858	0.003000	0.11579	0.609000	0.37215	-0.057000	0.11768	-0.168000	0.10853	0.400000	0.26472	ATG		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1275533	G	C	1275533	3	2	75	1	0	0	0	0	1	0	0	0	9981	1348	47	4	15572	4	MUC5B	11	1275533	Missense_Mutation	SNP	G	TCGA-A4-8311-01A-11D-2396-08		1275533	133730983	31	5145											
LGALS12	85329	hgsc.bcm.edu	37	11	63273900	63273900	+	Silent	SNP	G	G	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr11:63273900G>C	ENST00000394618.3	+	1	327	c.36G>C	c.(34-36)acG>acC	p.T12T	LGALS12_ENST00000425950.2_5'Flank|LGALS12_ENST00000255684.5_Silent_p.T12T|LGALS12_ENST00000415491.2_5'Flank|LGALS12_ENST00000340246.5_Silent_p.T12T	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	12					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTCCTGGAACGAGGATCTACA	0.572																																																0													126	114	118					11																	63273900		2201	4298	6499	SO:0001819	synonymous_variant	85329			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"Lectins, galactoside-binding"	15788	protein-coding gene	gene with protein product	"galectin 12"	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.36G>C	chr11.hg19:g.63273900G>C			B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000394618.3	hg19	CCDS8045.1																																																																																				0.572	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		C	63273900	G	C	63273900	2	2	75	1	0	0	0	0	0	0	0	1	8741	1045	37	4		4	LGALS12	11	63273900	Silent	SNP	G	TCGA-A4-8311-01A-11D-2396-08	61998367	63273900	71732616	32	5146											
CATSPER1	117144	hgsc.bcm.edu	37	11	65788966	65788966	+	Splice_Site	SNP	C	C	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr11:65788966C>T	ENST00000312106.5	-	4	1829		c.e4+1			NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1						calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGCCACTGACCTGAGCCTCC	0.627																																																0													41	45	44					11																	65788966		2201	4296	6497	SO:0001630	splice_region_variant	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1691+1G>A	chr11.hg19:g.65788966C>T			Q96P76	Splice_Site	SNP	ENST00000312106.5	hg19	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826703	0.32329	.	.	ENSG00000175294	ENST00000312106	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4667	0.61258	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CATSPER1	65545542	1.000000	0.71417	0.985000	0.45067	0.197000	0.23852	4.738000	0.62073	2.227000	0.72691	0.561000	0.74099	.		0.627	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054	Intron	T	65788966	C	T	65788966	5	4	75	1	0	0	0	0	0	0	1	0	2689	521	18	2	686	2	CATSPER1	11	65788966	Splice_Site	SNP	C	TCGA-A4-8311-01A-11D-2396-08	2515066	65788966	69217550	33	5147											
BCL9L	283149	hgsc.bcm.edu	37	11	118771983	118771983	+	Silent	SNP	C	C	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr11:118771983C>T	ENST00000334801.3	-	6	3433	c.2469G>A	c.(2467-2469)caG>caA	p.Q823Q	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	823	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CACTGCTGTTCTGGGCCCGAA	0.652																																																0													49	49	49					11																	118771983		2200	4295	6495	SO:0001819	synonymous_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2469G>A	chr11.hg19:g.118771983C>T			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	hg19	CCDS8403.1																																																																																				0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		T	118771983	C	T	118771983	2	4	75	1	0	0	0	0	0	0	0	1	1382	912	32	2		2	BCL9L	11	118771983	Silent	SNP	C	TCGA-A4-8311-01A-11D-2396-08	52983017	118771983	16234533	34	5148											
ARHGEF12	23365	hgsc.bcm.edu	37	11	120352127	120352127	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr11:120352127G>T	ENST00000397843.2	+	39	4562	c.4396G>T	c.(4396-4398)Gca>Tca	p.A1466S	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.A1447S|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.A1363S	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1466					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCCGATGGGGCAATTTCACC	0.537			T	MLL	AML																																		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													91	92	92					11																	120352127		1937	4149	6086	SO:0001583	missense	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4396G>T	chr11.hg19:g.120352127G>T	ENSP00000380942:p.Ala1466Ser		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	hg19	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820487	0.32145	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.66099	-0.08;-0.19;-0.08	6.08	3.08	0.35506	.	0.599101	0.14093	N	0.341889	T	0.43233	0.1238	N	0.19112	0.55	0.18873	N	0.999987	B	0.23377	0.084	B	0.21708	0.036	T	0.22103	-1.0226	10	0.13108	T	0.6	-1.3411	10.087	0.42423	0.0683:0.2579:0.6738:0.0	.	1466	Q9NZN5	ARHGC_HUMAN	S	1466;1447;1363	ENSP00000380942:A1466S;ENSP00000349056:A1447S;ENSP00000432984:A1363S	ENSP00000349056:A1447S	A	+	1	0	ARHGEF12	119857337	1.000000	0.71417	0.695000	0.30226	0.341000	0.28922	3.420000	0.52735	0.398000	0.25338	0.655000	0.94253	GCA		0.537	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		T	120352127	G	T	120352127	3	4	75	1	0	0	0	0	1	0	0	0	897	1203	42	4	4550	4	ARHGEF12	11	120352127	Missense_Mutation	SNP	G	TCGA-A4-8311-01A-11D-2396-08	1580144	120352127	14654389	35	5149											
LARP4	113251	hgsc.bcm.edu	37	12	50847454	50847454	+	Splice_Site	SNP	T	T	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr12:50847454T>C	ENST00000398473.2	+	9	1128	c.1016T>C	c.(1015-1017)cTg>cCg	p.L339P	LARP4_ENST00000293618.8_Splice_Site_p.L339P|LARP4_ENST00000518444.1_Splice_Site_p.L338P|LARP4_ENST00000429001.3_Splice_Site_p.L345P|LARP4_ENST00000518561.1_Splice_Site_p.L269P|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000522085.1_Splice_Site_p.L339P	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	339					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAAACACCACTGGTAAGTGAG	0.353																																																0													143	119	126					12																	50847454		1844	4078	5922	SO:0001630	splice_region_variant	113251			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1017+1T>C	chr12.hg19:g.50847454T>C			A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	hg19	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760444	0.69763	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	4.05	4.05	0.47172	.	0.000000	0.64402	D	0.000005	T	0.57784	0.2077	M	0.71581	2.175	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.911;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.997;0.756;0.999;0.996;0.996	T	0.61739	-0.7001	10	0.54805	T	0.06	.	13.6919	0.62550	0.0:0.0:0.0:1.0	.	240;338;339;339;345	Q71RC2-2;Q71RC2-3;G3XAA8;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	P	339;345;339;339;339;338;269;240	ENSP00000293618:L339P;ENSP00000415464:L345P;ENSP00000381490:L339P;ENSP00000429781:L339P;ENSP00000429077:L338P;ENSP00000430851:L269P	ENSP00000293618:L339P	L	+	2	0	LARP4	49133721	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	1.793000	0.52555	0.402000	0.26972	CTG		0.353	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	Missense_Mutation	C	50847454	T	C	50847454	5	2	75	1	0	0	0	0	0	0	1	0	8632	1594	55	3	1050	3	LARP4	12	50847454	Splice_Site	SNP	T	TCGA-A4-8311-01A-11D-2396-08		50847454	83004441	36	5150											
GRASP	160622	hgsc.bcm.edu	37	12	52401016	52401016	+	Silent	SNP	C	C	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr12:52401016C>A	ENST00000293662.4	+	1	293	c.213C>A	c.(211-213)ctC>ctA	p.L71L		NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	71					protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		ACCGCGCGCTCGCCGTGTCCG	0.741																																																0													8	9	9					12																	52401016		1938	4028	5966	SO:0001819	synonymous_variant	160622			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.213C>A	chr12.hg19:g.52401016C>A			Q6PIF8|Q7Z741	Silent	SNP	ENST00000293662.4	hg19	CCDS8817.1																																																																																				0.741	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			A	52401016	C	A	52401016	2	1	75	1	0	0	0	0	0	0	0	1	6757	871	31	4		4	GRASP	12	52401016	Silent	SNP	C	TCGA-A4-8311-01A-11D-2396-08	1553562	52401016	81450879	37	5151											
PCDH17	27253	hgsc.bcm.edu	37	13	58208351	58208351	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr13:58208351delG	ENST00000377918.3	+	1	1697	c.1671delG	c.(1669-1671)tcgfs	p.S557fs		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	557	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(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTAAGGACTCGGGGGCGCCCG	0.592																																					Melanoma(72;952 1291 1619 12849 33676)											0													39	41	40					13																	58208351		2203	4300	6503	SO:0001589	frameshift_variant	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1671delG	chr13.hg19:g.58208351delG	ENSP00000367151:p.Ser557fs		A8K1R5|Q5VVW9|Q5VVX0	Frame_Shift_Del	DEL	ENST00000377918.3	hg19	CCDS31986.1																																																																																				0.592	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		-	58208351	G	-	58208351	7	5	75	1	0	1	0	1	0	0	0	0	11514	1103	39	0	1673	0	PCDH17	13	58208351	Frame_Shift_Del	DEL	G	TCGA-A4-8311-01A-11D-2396-08		58208351	56961527	38	5152											
MTHFD1	4522	hgsc.bcm.edu	37	14	64914978	64914979	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr14:64914978_64914979delAA	ENST00000545908.1	+	23	2619_2620	c.2390_2391delAA	c.(2389-2391)caafs	p.Q797fs	MTHFD1_ENST00000216605.8_Frame_Shift_Del_p.Q741fs|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	741	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	TTGAAGAAACAAATTGAAAATG	0.401																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											0																																										SO:0001589	frameshift_variant	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2390_2391delAA	chr14.hg19:g.64914978_64914979delAA	ENSP00000438588:p.Gln797fs		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Frame_Shift_Del	DEL	ENST00000545908.1	hg19																																																																																					0.401	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			-	64914979	AA	-	64914978	7	5	75	1	0	1	0	1	0	0	0	0	9929	130	5	0	2312	0	MTHFD1	14	64914978	Frame_Shift_Del	DEL	AA	TCGA-A4-8311-01A-11D-2396-08		64914978	42434562	39	5153											
MAPK6	5597	hgsc.bcm.edu	37	15	52338881	52338881	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr15:52338881A>G	ENST00000261845.5	+	2	1031	c.224A>G	c.(223-225)gAt>gGt	p.D75G		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CTTGACCATGATAACATTGTG	0.398																																																0													95	94	94					15																	52338881		2195	4293	6488	SO:0001583	missense	5597			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.224A>G	chr15.hg19:g.52338881A>G	ENSP00000261845:p.Asp75Gly		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	hg19	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189988	0.78789	.	.	ENSG00000069956	ENST00000261845	T	0.43688	0.94	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	L	0.56199	1.76	0.80722	D	1	D	0.60575	0.988	D	0.79784	0.993	T	0.63646	-0.6590	10	0.87932	D	0	-21.6017	15.4537	0.75297	1.0:0.0:0.0:0.0	.	75	Q16659	MK06_HUMAN	G	75	ENSP00000261845:D75G	ENSP00000261845:D75G	D	+	2	0	MAPK6	50126173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.249000	0.95470	2.067000	0.61834	0.529000	0.55759	GAT		0.398	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		G	52338881	A	G	52338881	3	3	75	1	0	0	0	0	1	0	0	0	9283	333	12	3	226	3	MAPK6	15	52338881	Missense_Mutation	SNP	A	TCGA-A4-8311-01A-11D-2396-08		52338881	50192511	40	5154											
RAB11FIP3	9727	hgsc.bcm.edu	37	16	568988	568988	+	Silent	SNP	G	G	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr16:568988G>A	ENST00000262305.4	+	10	2074	c.1686G>A	c.(1684-1686)acG>acA	p.T562T	RAB11FIP3_ENST00000457159.1_Silent_p.T607T|RAB11FIP3_ENST00000450428.1_Silent_p.T266T	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	562	ARF-binding domain (ABD).				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GGTCCTGCACGCCCTGTCTGA	0.612																																					Melanoma(160;2366 2595 4474 8099)											0													142	124	130					16																	568988		2201	4300	6501	SO:0001819	synonymous_variant	9727			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1686G>A	chr16.hg19:g.568988G>A			B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	hg19	CCDS32351.1																																																																																				0.612	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		A	568988	G	A	568988	2	1	75	1	0	0	0	0	0	0	0	1	12901	1074	38	1		1	RAB11FIP3	16	568988	Silent	SNP	G	TCGA-A4-8311-01A-11D-2396-08		568988	89785765	41	5155											
PKD1	5310	hgsc.bcm.edu	37	16	2155892	2155892	+	Silent	SNP	A	A	G			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr16:2155892A>G	ENST00000262304.4	-	20	8045	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.L2613L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2613	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		Missing (in PKD1; unknown pathological significance). {ECO:0000269|PubMed:11571556}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L2613L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657																																																1	Substitution - coding silent(1)	lung(1)											46	45	45					16																	2155892		1400	2465	3865	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7837T>C	chr16.hg19:g.2155892A>G			Q15140|Q15141	Silent	SNP	ENST00000262304.4	hg19	CCDS32369.1																																																																																				0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2155892	A	G	2155892	2	3	75	1	0	0	0	0	0	0	0	1	11965	40	2	3		3	PKD1	16	2155892	Silent	SNP	A	TCGA-A4-8311-01A-11D-2396-08	1586904	2155892	88198861	42	5156											
ZNF263	10127	hgsc.bcm.edu	37	16	3339974	3339974	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr16:3339974delT	ENST00000219069.5	+	6	2344	c.1468delT	c.(1468-1470)tacfs	p.Y490fs	ZNF263_ENST00000538765.1_Frame_Shift_Del_p.Y138fs	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	490					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGAGAAGCCCTACAAGTGCCC	0.537																																																0													69	67	68					16																	3339974		2197	4300	6497	SO:0001589	frameshift_variant	10127			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1468delT	chr16.hg19:g.3339974delT	ENSP00000219069:p.Tyr490fs		B2R634|O43387|Q96H95	Frame_Shift_Del	DEL	ENST00000219069.5	hg19	CCDS10499.1																																																																																				0.537	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			-	3339974	T	-	3339974	7	5	75	1	0	1	0	1	0	0	0	0	17808	1522	53	0	1490	0	ZNF263	16	3339974	Frame_Shift_Del	DEL	T	TCGA-A4-8311-01A-11D-2396-08	1184082	3339974	87014779	43	5157											
ULK2	9706	hgsc.bcm.edu	37	17	19770705	19770705	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr17:19770705T>A	ENST00000395544.4	-	1	525	c.26A>T	c.(25-27)tAc>tTc	p.Y9F	ULK2_ENST00000361658.2_Missense_Mutation_p.Y9F	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	9	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CCTCTTGCTGTACTCGAAGTC	0.771																																																0													21	21	21					17																	19770705		2197	4295	6492	SO:0001583	missense	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.26A>T	chr17.hg19:g.19770705T>A	ENSP00000378914:p.Tyr9Phe		A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	hg19	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.181057	0.38511	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.30981	1.51;1.51	4.71	3.61	0.41365	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067152	0.64402	D	0.000007	T	0.39860	0.1094	L	0.42744	1.35	0.49687	D	0.999814	D	0.76494	0.999	D	0.79108	0.992	T	0.21724	-1.0237	10	0.09590	T	0.72	-10.0083	9.917	0.41442	0.1526:0.0:0.0:0.8474	.	9	Q8IYT8	ULK2_HUMAN	F	9	ENSP00000354877:Y9F;ENSP00000378914:Y9F	ENSP00000354877:Y9F	Y	-	2	0	ULK2	19711297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.963000	0.56773	0.633000	0.30452	0.472000	0.43445	TAC		0.771	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		A	19770705	T	A	19770705	3	1	75	1	0	0	0	0	1	0	0	0	16981	1638	57	5	3192	5	ULK2	17	19770705	Missense_Mutation	SNP	T	TCGA-A4-8311-01A-11D-2396-08		19770705	61424505	44	5158											
EVI2A	2123	hgsc.bcm.edu	37	17	29645740	29645740	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr17:29645740A>T	ENST00000462804.2	-	2	691	c.292T>A	c.(292-294)Tct>Act	p.S98T	NF1_ENST00000356175.3_Intron|NF1_ENST00000581113.2_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000247270.3_Missense_Mutation_p.S121T|EVI2A_ENST00000461237.1_Missense_Mutation_p.S98T|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.F37Y	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	98					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)|p.S121P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		CTGACGACAGAAGGTATATAA	0.368																																																12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)|liver(1)											153	153	153					17																	29645740		2203	4300	6503	SO:0001583	missense	2123			M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.292T>A	chr17.hg19:g.29645740A>T	ENSP00000420557:p.Ser98Thr		B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	hg19	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	A	7.116	0.577064	0.13686	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	4.67	-0.204	0.13200	.	1.194170	0.05806	N	0.613220	T	0.23249	0.0562	L	0.50333	1.59	0.19300	N	0.99998	B;B	0.33318	0.058;0.408	B;B	0.29785	0.091;0.107	T	0.12400	-1.0549	9	0.07175	T	0.84	.	0.9302	0.01333	0.421:0.1575:0.2688:0.1527	.	98;121	P22794;P22794-2	EVI2A_HUMAN;.	T	98;94;98;121	.	ENSP00000247270:S121T	S	-	1	0	EVI2A	26669866	0.000000	0.05858	0.002000	0.10522	0.601000	0.36947	0.005000	0.13129	-0.022000	0.13986	0.459000	0.35465	TCT		0.368	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		T	29645740	A	T	29645740	3	4	75	1	0	0	0	0	1	0	0	0	5289	246	9	5	422	5	EVI2A	17	29645740	Missense_Mutation	SNP	A	TCGA-A4-8311-01A-11D-2396-08	9875035	29645740	51549470	45	5159											
HNF1B	6928	hgsc.bcm.edu	37	17	36099582	36099582	+	Silent	SNP	T	T	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr17:36099582T>C	ENST00000225893.4	-	2	754	c.393A>G	c.(391-393)caA>caG	p.Q131Q	HNF1B_ENST00000561193.1_Silent_p.Q131Q|HNF1B_ENST00000427275.2_Silent_p.Q131Q|HNF1B_ENST00000560016.1_Silent_p.Q131Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	131					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGATGTTGTGTTGCTGCATGT	0.547																																					Colon(71;102 1179 9001 27917 43397)											0													101	86	92					17																	36099582		2203	4300	6503	SO:0001819	synonymous_variant	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.393A>G	chr17.hg19:g.36099582T>C			B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	hg19	CCDS11324.1																																																																																				0.547	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		C	36099582	T	C	36099582	2	2	75	1	0	0	0	0	0	0	0	1	7254	1722	60	3		3	HNF1B	17	36099582	Silent	SNP	T	TCGA-A4-8311-01A-11D-2396-08	6453842	36099582	45095628	46	5160											
KRT26	353288	hgsc.bcm.edu	37	17	38926071	38926071	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr17:38926071C>A	ENST00000335552.4	-	5	952	c.904G>T	c.(904-906)Gag>Tag	p.E302*		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TCGGTCAGCTCATTTCTGGCT	0.463																																																0													174	159	164					17																	38926071		2203	4300	6503	SO:0001587	stop_gained	353288			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"-", "Intermediate filaments type I, keratins (acidic)"	30840	protein-coding gene	gene with protein product			"keratin 25B"	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.904G>T	chr17.hg19:g.38926071C>A	ENSP00000334798:p.Glu302*			Nonsense_Mutation	SNP	ENST00000335552.4	hg19	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	C	36	5.661653	0.96734	.	.	ENSG00000186393	ENST00000335552	.	.	.	5.24	4.24	0.50183	.	0.102432	0.42821	D	0.000643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7173	0.77677	0.0:0.7423:0.2577:0.0	.	.	.	.	X	302	.	ENSP00000334798:E302X	E	-	1	0	KRT26	36179597	0.424000	0.25490	1.000000	0.80357	0.917000	0.54804	1.023000	0.30065	1.292000	0.44672	0.655000	0.94253	GAG		0.463	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		A	38926071	C	A	38926071	4	1	75	1	0	0	0	0	0	1	0	0	8465	835	29	4	518	4	KRT26	17	38926071	Nonsense_Mutation	SNP	C	TCGA-A4-8311-01A-11D-2396-08	2826489	38926071	42269139	47	5161											
NARF	26502	hgsc.bcm.edu	37	17	80443514	80443514	+	Silent	SNP	C	C	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr17:80443514C>T	ENST00000309794.11	+	10	1311	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	NARF_ENST00000457415.3_Silent_p.V417V|NARF_ENST00000390006.4_Silent_p.V312V|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000345415.7_Silent_p.V323V	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	371						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TTGTGGAGGTCCTCGCCTGTG	0.572																																																0													106	93	97					17																	80443514		2203	4300	6503	SO:0001819	synonymous_variant	26502			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1113C>T	chr17.hg19:g.80443514C>T			A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Silent	SNP	ENST00000309794.11	hg19	CCDS32777.1																																																																																				0.572	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		T	80443514	C	T	80443514	2	4	75	1	0	0	0	0	0	0	0	1	10169	842	30	2		2	NARF	17	80443514	Silent	SNP	C	TCGA-A4-8311-01A-11D-2396-08	41517443	80443514	751696	48	5162											
MEP1B	4225	hgsc.bcm.edu	37	18	29788204	29788204	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr18:29788204A>T	ENST00000269202.6	+	9	936	c.889A>T	c.(889-891)Agt>Tgt	p.S297C	MEP1B_ENST00000581447.1_Missense_Mutation_p.S297C	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	297	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGGCCAGAGAGTGATCACTC	0.478																																																0													83	86	85					18																	29788204		1915	4116	6031	SO:0001583	missense	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.889A>T	chr18.hg19:g.29788204A>T	ENSP00000269202:p.Ser297Cys		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	hg19	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103407	0.56291	.	.	ENSG00000141434	ENST00000269202	T	0.02369	4.32	5.48	4.33	0.51752	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.625246	0.18028	N	0.154004	T	0.11965	0.0291	M	0.77313	2.365	0.09310	N	1	P	0.51791	0.948	P	0.59948	0.866	T	0.02047	-1.1223	10	0.62326	D	0.03	-5.1783	10.7622	0.46272	0.9255:0.0:0.0745:0.0	.	297	Q16820	MEP1B_HUMAN	C	297	ENSP00000269202:S297C	ENSP00000269202:S297C	S	+	1	0	MEP1B	28042202	0.761000	0.28439	0.207000	0.23584	0.486000	0.33341	6.024000	0.70857	2.078000	0.62432	0.459000	0.35465	AGT		0.478	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		T	29788204	A	T	29788204	3	4	75	1	0	0	0	0	1	0	0	0	9478	304	11	5	923	5	MEP1B	18	29788204	Missense_Mutation	SNP	A	TCGA-A4-8311-01A-11D-2396-08		29788204	48289044	49	5163											
PQLC1	80148	hgsc.bcm.edu	37	18	77679262	77679262	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr18:77679262A>T	ENST00000397778.2	-	5	712	c.530T>A	c.(529-531)cTg>cAg	p.L177Q	PQLC1_ENST00000409073.1_Missense_Mutation_p.L94Q|PQLC1_ENST00000357575.4_Missense_Mutation_p.L159Q|PQLC1_ENST00000590381.1_Intron	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	177						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CAGCACAGCCAGGAAGCCCAG	0.652																																																0													88	75	79					18																	77679262		2203	4300	6503	SO:0001583	missense	80148			AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.530T>A	chr18.hg19:g.77679262A>T	ENSP00000380880:p.Leu177Gln		B7Z7D9|G5E989|Q9H6D0	Missense_Mutation	SNP	ENST00000397778.2	hg19	CCDS12020.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.453736	0.84209	.	.	ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575	D;D;D	0.98531	-4.98;-4.98;-4.98	5.1	3.95	0.45737	.	0.000000	0.64402	D	0.000002	D	0.98707	0.9566	M	0.85197	2.74	0.80722	D	1	D;P	0.89917	1.0;0.937	D;P	0.81914	0.995;0.71	D	0.98869	1.0765	10	0.56958	D	0.05	-19.803	10.2033	0.43099	0.9213:0.0:0.0786:0.0	.	177;159	Q8N2U9;G5E989	PQLC1_HUMAN;.	Q	177;94;159	ENSP00000380880:L177Q;ENSP00000387221:L94Q;ENSP00000350188:L159Q	ENSP00000350188:L159Q	L	-	2	0	PQLC1	75780250	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	6.181000	0.71988	1.917000	0.55516	0.533000	0.62120	CTG		0.652	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		T	77679262	A	T	77679262	3	4	75	1	0	0	0	0	1	0	0	0	12423	188	7	5	293	5	PQLC1	18	77679262	Missense_Mutation	SNP	A	TCGA-A4-8311-01A-11D-2396-08	47891058	77679262	397986	50	5164											
ABCA7	10347	hgsc.bcm.edu	37	19	1046944	1046944	+	Missense_Mutation	SNP	C	C	G	rs144979723|rs142076058|rs375206158	byFrequency	TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr19:1046944C>G	ENST00000263094.6	+	14	1997	c.1766C>G	c.(1765-1767)gCg>gGg	p.A589G	ABCA7_ENST00000435683.2_Missense_Mutation_p.A451G|ABCA7_ENST00000533574.1_Intron|ABCA7_ENST00000433129.1_Missense_Mutation_p.A589G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	589					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGCCGCGCGGTGCTCTGG	0.692													C|||	5	0.000998403	0.0	0.0	5008	,	,		13253	0.002		0.0	False		,,,				2504	0.0031															0													17	18	18					19																	1046944		2170	4265	6435	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1766C>G	chr19.hg19:g.1046944C>G	ENSP00000263094:p.Ala589Gly		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.154384	0.00325	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	T;T	0.80909	-1.43;-1.43	4.68	0.595	0.17490	.	.	.	.	.	T	0.60183	0.2249	N	0.03948	-0.315	0.09310	N	1	B;B	0.14805	0.003;0.011	B;B	0.21546	0.015;0.035	T	0.30357	-0.9981	9	0.09590	T	0.72	.	16.2636	0.82563	0.0:0.5375:0.4625:0.0	.	451;589	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	G	589	ENSP00000263094:A589G;ENSP00000414062:A589G	ENSP00000263094:A589G	A	+	2	0	ABCA7	997944	0.806000	0.28996	0.000000	0.03702	0.012000	0.07955	1.386000	0.34419	0.054000	0.16065	-1.338000	0.01255	GCG		0.692	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		G	1046944	C	G	1046944	3	3	75	1	0	0	0	0	1	0	0	0	37	768	27	4	1816	4	ABCA7	19	1046944	Missense_Mutation	SNP	C	TCGA-A4-8311-01A-11D-2396-08		1046944	58082039	51	5165											
MUC16	94025	hgsc.bcm.edu	37	19	9077786	9077786	+	Silent	SNP	G	G	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr19:9077786G>T	ENST00000397910.4	-	3	9863	c.9660C>A	c.(9658-9660)atC>atA	p.I3220I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3221	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGGACCTGATCTCTGGGC	0.498																																																0													142	140	140					19																	9077786		1965	4150	6115	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9660C>A	chr19.hg19:g.9077786G>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	hg19	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9077786	G	T	9077786	2	4	75	1	0	0	0	0	0	0	0	1	9975	1280	45	4		4	MUC16	19	9077786	Silent	SNP	G	TCGA-A4-8311-01A-11D-2396-08	8030842	9077786	50051197	52	5166											
RALGAPB	57148	hgsc.bcm.edu	37	20	37153507	37153507	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr20:37153507C>A	ENST00000262879.6	+	11	1990	c.1706C>A	c.(1705-1707)cCt>cAt	p.P569H	RALGAPB_ENST00000397040.1_Missense_Mutation_p.P569H|RALGAPB_ENST00000397038.1_Missense_Mutation_p.P347H|RALGAPB_ENST00000397042.3_Missense_Mutation_p.P569H			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	569					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AACTCTCCTCCTTTGTTCTGC	0.393																																																0													301	273	283					20																	37153507		2203	4300	6503	SO:0001583	missense	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1706C>A	chr20.hg19:g.37153507C>A	ENSP00000262879:p.Pro569His		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	hg19	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249579	0.59212	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.66280	-0.2;-0.2	5.51	4.54	0.55810	.	0.099219	0.64402	D	0.000001	T	0.49423	0.1556	N	0.22421	0.69	0.49299	D	0.999778	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.002;0.002	T	0.46707	-0.9172	10	0.48119	T	0.1	.	15.7457	0.77939	0.1369:0.8631:0.0:0.0	.	397;569;569;569	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	H	569;569;569;347;569;397	ENSP00000262879:P569H;ENSP00000380233:P569H	ENSP00000262879:P569H	P	+	2	0	RALGAPB	36586921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.977000	0.70492	2.587000	0.87381	0.561000	0.74099	CCT		0.393	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		A	37153507	C	A	37153507	3	1	75	1	0	0	0	0	1	0	0	0	13021	681	24	4	1744	4	RALGAPB	20	37153507	Missense_Mutation	SNP	C	TCGA-A4-8311-01A-11D-2396-08		37153507	25872013	53	5167											
SULF2	55959	hgsc.bcm.edu	37	20	46291842	46291842	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr20:46291842T>A	ENST00000359930.4	-	17	3193	c.2342A>T	c.(2341-2343)tAc>tTc	p.Y781F	SULF2_ENST00000467815.1_Missense_Mutation_p.Y781F|SULF2_ENST00000484875.1_Missense_Mutation_p.Y781F|SULF2_ENST00000361612.4_Missense_Mutation_p.Y781F	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	781					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GAGATCAAAGTACTCTAGGAA	0.547											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													155	142	147					20																	46291842		2203	4300	6503	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2342A>T	chr20.hg19:g.46291842T>A	ENSP00000353007:p.Tyr781Phe	938	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	hg19	CCDS13408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.42|19.42	3.824660|3.824660	0.71143|0.71143	.|.	.|.	ENSG00000196562|ENSG00000196562	ENST00000495544|ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	.|D;D;D;D	.|0.96073	.|-3.9;-3.9;-3.9;-3.9	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	.|0.054592	.|0.85682	.|D	.|0.000000	D|D	0.95956|0.95956	0.8683|0.8683	L|L	0.41356|0.41356	1.27|1.27	0.54753|0.54753	D|D	0.999982|0.999982	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.87578	.|0.998;0.99	D|D	0.94418|0.94418	0.7638|0.7638	5|10	.|0.19147	.|T	.|0.46	-23.4617|-23.4617	15.4799|15.4799	0.75517|0.75517	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|781;781	.|Q8IWU5-2;Q8IWU5	.|.;SULF2_HUMAN	S|F	136|781;781;781;200;781	.|ENSP00000353007:Y781F;ENSP00000418290:Y781F;ENSP00000354662:Y781F;ENSP00000418442:Y781F	.|ENSP00000353007:Y781F	T|Y	-|-	1|2	0|0	SULF2|SULF2	45725249|45725249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.040000|8.040000	0.89188|0.89188	2.068000|2.068000	0.61886|0.61886	0.454000|0.454000	0.30748|0.30748	ACT|TAC		0.547	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46291842	T	A	46291842	3	1	75	1	0	0	0	0	1	0	0	0	15376	1638	57	5	290	5	SULF2	20	46291842	Missense_Mutation	SNP	T	TCGA-A4-8311-01A-11D-2396-08	9138335	46291842	16733678	54	5168											
DDX27	55661	hgsc.bcm.edu	37	20	47835928	47835928	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr20:47835928A>C	ENST00000371764.4	+	1	45	c.36A>C	c.(34-36)gaA>gaC	p.E12D	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	12						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGGCTGCGAAAAGTTAAGGG	0.607																																																0													78	66	70					20																	47835928		2203	4300	6503	SO:0001583	missense	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.36A>C	chr20.hg19:g.47835928A>C	ENSP00000360828:p.Glu12Asp		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	hg19	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	A	8.891	0.954106	0.18431	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	T	0.01446	4.88	5.04	-4.9E-5	0.14040	.	2.187840	0.02319	N	0.072815	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.46830	-0.9163	10	0.87932	D	0	4.3423	3.5735	0.07926	0.5451:0.0:0.2933:0.1616	.	12	Q96GQ7	DDX27_HUMAN	D	12	ENSP00000360828:E12D	ENSP00000360828:E12D	E	+	3	2	DDX27	47269335	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.050000	0.14120	-0.113000	0.11958	0.533000	0.62120	GAA		0.607	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			C	47835928	A	C	47835928	3	2	75	1	0	0	0	0	1	0	0	0	4356	11	1	5	38	5	DDX27	20	47835928	Missense_Mutation	SNP	A	TCGA-A4-8311-01A-11D-2396-08	1544086	47835928	15189592	55	5169											
CRYAA	1409	hgsc.bcm.edu	37	21	44589374	44589374	+	Silent	SNP	C	C	G			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr21:44589374C>G	ENST00000291554.2	+	1	257	c.165C>G	c.(163-165)acC>acG	p.T55T	CRYAA_ENST00000398133.1_5'Flank|CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	55					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCTTCCGCACCGTGCTGGACT	0.622																																																0													130	118	122					21																	44589374		2203	4300	6503	SO:0001819	synonymous_variant	1409				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"Heat shock proteins / HSPB"	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.165C>G	chr21.hg19:g.44589374C>G			Q53X53	Silent	SNP	ENST00000291554.2	hg19	CCDS13695.1																																																																																				0.622	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			G	44589374	C	G	44589374	2	3	75	1	0	0	0	0	0	0	0	1	3907	639	23	4		4	CRYAA	21	44589374	Silent	SNP	C	TCGA-A4-8311-01A-11D-2396-08		44589374	3540521	56	5170											
MED15	51586	hgsc.bcm.edu	37	22	20920816	20920816	+	Silent	SNP	G	G	A	rs535773989	byFrequency	TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr22:20920816G>A	ENST00000263205.7	+	7	822	c.753G>A	c.(751-753)caG>caA	p.Q251Q	MED15_ENST00000542773.1_Silent_p.Q56Q|MED15_ENST00000425759.2_Silent_p.Q140Q|MED15_ENST00000541476.1_Silent_p.Q225Q|MED15_ENST00000292733.7_Silent_p.Q251Q|MED15_ENST00000382974.2_Silent_p.Q180Q|MED15_ENST00000406969.1_Silent_p.Q225Q|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	251	Poly-Gln.			Missing (in Ref. 3; BAB85034). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			aacagcaacagcagcagcagc	0.592																																																0													19	25	23					22																	20920816		2129	4141	6270	SO:0001819	synonymous_variant	51586			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.753G>A	chr22.hg19:g.20920816G>A			D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	hg19	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	3.627	-0.076441	0.07184	.	.	ENSG00000099917	ENST00000423862	.	.	.	0.998	0.998	0.19857	.	.	.	.	.	T	0.51839	0.1698	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39143	-0.9628	4	.	.	.	.	5.6489	0.17604	0.0:0.0:1.0:0.0	.	.	.	.	T	192	.	.	A	+	1	0	MED15	19250816	0.894000	0.30519	0.949000	0.38748	0.643000	0.38383	0.816000	0.27267	0.293000	0.22520	0.298000	0.19748	GCA		0.592	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		A	20920816	G	A	20920816	2	1	75	1	0	0	0	0	0	0	0	1	9435	962	34	2		2	MED15	22	20920816	Silent	SNP	G	TCGA-A4-8311-01A-11D-2396-08		20920816	30383750	57	5171											
UQCR10	29796	hgsc.bcm.edu	37	22	30163434	30163434	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr22:30163434G>A	ENST00000330029.6	+	1	77	c.47G>A	c.(46-48)cGc>cAc	p.R16H	UQCR10_ENST00000401406.3_Missense_Mutation_p.R16H|ZMAT5_ENST00000397781.3_5'Flank|ZMAT5_ENST00000344318.3_5'Flank	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	16					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						CTGCTGTTCCGCAGGACCTCC	0.612																																																0													54	62	59					22																	30163434		2053	4195	6248	SO:0001583	missense	29796			AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"Mitochondrial respiratory chain complex / Complex III"	30863	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa", "complex III subunit 9"	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.47G>A	chr22.hg19:g.30163434G>A	ENSP00000332887:p.Arg16His		B5MCM5|Q9T2V6	Missense_Mutation	SNP	ENST00000330029.6	hg19	CCDS46680.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541323	0.85917	.	.	ENSG00000184076	ENST00000332801;ENST00000330029;ENST00000401406;ENST00000406782	T;T	0.61158	0.13;0.13	5.73	5.73	0.89815	.	0.000000	0.42821	D	0.000649	T	0.76485	0.3994	.	.	.	0.51482	D	0.999921	B;D	0.89917	0.403;1.0	B;D	0.85130	0.152;0.997	T	0.78137	-0.2321	9	0.62326	D	0.03	-4.8723	15.4576	0.75327	0.0:0.0:1.0:0.0	.	16;16	Q9UDW1;Q9UDW1-2	QCR9_HUMAN;.	H	16	ENSP00000332887:R16H;ENSP00000384962:R16H	ENSP00000332887:R16H	R	+	2	0	UQCR10	28493434	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.728000	0.62000	2.720000	0.93068	0.558000	0.71614	CGC		0.612	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387		A	30163434	G	A	30163434	3	1	75	1	0	0	0	0	1	0	0	0	17021	1087	38	1	49	1	UQCR10	22	30163434	Missense_Mutation	SNP	G	TCGA-A4-8311-01A-11D-2396-08	9242618	30163434	21141132	58	5172											
SEC14L3	266629	hgsc.bcm.edu	37	22	30866522	30866522	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr22:30866522A>T	ENST00000215812.4	-	2	192	c.102T>A	c.(100-102)gaT>gaA	p.D34E	SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	34						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GGAAATAATCATCAGGGTTGG	0.567																																					Esophageal Squamous(108;290 1516 3584 23771 37333)											0													131	111	118					22																	30866522		2203	4300	6503	SO:0001583	missense	266629			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.102T>A	chr22.hg19:g.30866522A>T	ENSP00000215812:p.Asp34Glu		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	hg19	CCDS13877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.81|17.81	3.481554|3.481554	0.63849|0.63849	.|.	.|.	ENSG00000100012|ENSG00000100012	ENST00000215812|ENST00000435069	D|.	0.87729|.	-2.29|.	5.39|5.39	0.515|0.515	0.17013|0.17013	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);|.	0.223524|.	0.46145|.	D|.	0.000308|.	T|.	0.77890|.	0.4198|.	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	P|.	0.47253|.	0.892|.	P|.	0.58391|.	0.838|.	T|.	0.77958|.	-0.2392|.	10|.	0.59425|.	D|.	0.04|.	-19.4435|-19.4435	9.2711|9.2711	0.37673|0.37673	0.5993:0.0:0.4007:0.0|0.5993:0.0:0.4007:0.0	.|.	34|.	Q9UDX4|.	S14L3_HUMAN|.	E|R	34|15	ENSP00000215812:D34E|.	ENSP00000215812:D34E|.	D|X	-|-	3|1	2|0	SEC14L3|SEC14L3	29196522|29196522	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.890000|0.890000	0.51754|0.51754	0.735000|0.735000	0.26115|0.26115	0.058000|0.058000	0.16222|0.16222	0.528000|0.528000	0.53228|0.53228	GAT|TGA		0.567	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		T	30866522	A	T	30866522	3	4	75	1	0	0	0	0	1	0	0	0	13989	214	8	5	1144	5	SEC14L3	22	30866522	Missense_Mutation	SNP	A	TCGA-A4-8311-01A-11D-2396-08	703088	30866522	20438044	59	5173											
SUN2	25777	hgsc.bcm.edu	37	22	39138452	39138452	+	Silent	SNP	G	G	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chr22:39138452G>A	ENST00000405510.1	-	10	1280	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Silent_p.L297L|SUN2_ENST00000216064.4_Silent_p.L308L|SUN2_ENST00000405018.1_Silent_p.L329L|SUN2_ENST00000406622.1_Silent_p.L308L|RP3-508I15.22_ENST00000607991.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	308					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CGCAGCTCCAGACGTTCCAGC	0.647																																																0													30	30	30					22																	39138452		2203	4300	6503	SO:0001819	synonymous_variant	25777			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.922C>T	chr22.hg19:g.39138452G>A			B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	ENST00000405510.1	hg19	CCDS13978.1																																																																																				0.647	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		A	39138452	G	A	39138452	2	1	75	1	0	0	0	0	0	0	0	1	15397	933	33	2		2	SUN2	22	39138452	Silent	SNP	G	TCGA-A4-8311-01A-11D-2396-08	8271930	39138452	12166114	60	5174											
TMEM27	57393	hgsc.bcm.edu	37	X	15682860	15682860	+	Silent	SNP	A	A	G			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chrX:15682860A>G	ENST00000380342.3	-	1	294	c.39T>C	c.(37-39)caT>caC	p.H13H		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	13					positive regulation of amino acid transport (GO:0051957)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of SNARE complex assembly (GO:0035543)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					AGAGTTCAGCATGAATGGCAG	0.373																																																0													58	53	55					X																	15682860		2203	4299	6502	SO:0001819	synonymous_variant	57393			AF229179	CCDS14170.1	Xp22	2012-04-13			ENSG00000147003	ENSG00000147003			29437	protein-coding gene	gene with protein product	"collectrin"	300631				11278314	Standard	NM_020665		Approved	NX17	uc004cxc.2	Q9HBJ8	OTTHUMG00000021181	ENST00000380342.3:c.39T>C	chrX.hg19:g.15682860A>G			B2R9M1|Q6UW07	Silent	SNP	ENST00000380342.3	hg19	CCDS14170.1																																																																																				0.373	TMEM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055879.1	NM_020665		G	15682860	A	G	15682860	2	3	75	1	0	0	0	0	0	0	0	1	16157	214	8	3		3	TMEM27	23	15682860	Silent	SNP	A	TCGA-A4-8311-01A-11D-2396-08		15682860	139587700	61	5175											
THOC2	57187	hgsc.bcm.edu	37	X	122756985	122756985	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8311-01A-11D-2396-08	TCGA-A4-8311-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ed5c8ff4-0d94-443d-9024-efdae20db5f3	ffccfd57-43fd-497f-b78d-a644b37173b2	g.chrX:122756985T>A	ENST00000245838.8	-	29	3684	c.3653A>T	c.(3652-3654)aAa>aTa	p.K1218I	THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Missense_Mutation_p.K1103I|THOC2_ENST00000355725.4_Missense_Mutation_p.K1218I	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1218					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCATCCGATTTAGATGCACT	0.403																																																0													100	89	93					X																	122756985		1868	4105	5973	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3653A>T	chrX.hg19:g.122756985T>A	ENSP00000245838:p.Lys1218Ile		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	hg19	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.82|15.82	2.945939|2.945939	0.53079|0.53079	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000438358	T;T;T|.	0.48836|.	0.8;0.8;0.8|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.53850|.	0.1822|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|.	0.52155|.	-0.8613|.	10|.	0.44086|.	T|.	0.13|.	-18.2877|-18.2877	11.3724|11.3724	0.49708|0.49708	0.0:0.0733:0.0:0.9266|0.0:0.0733:0.0:0.9266	.|.	1218|.	Q8NI27|.	THOC2_HUMAN|.	I|Y	1218;1218;1103|312	ENSP00000245838:K1218I;ENSP00000347959:K1218I;ENSP00000419795:K1103I|.	ENSP00000245838:K1218I|.	K|X	-|-	2|3	0|2	THOC2|THOC2	122584666|122584666	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	2.582000|2.582000	0.46085|0.46085	2.011000|2.011000	0.59026|0.59026	0.437000|0.437000	0.28790|0.28790	AAA|TAA		0.403	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			A	122756985	T	A	122756985	3	1	75	1	0	0	0	0	1	0	0	0	15870	1841	64	5	1168	5	THOC2	23	122756985	Missense_Mutation	SNP	T	TCGA-A4-8311-01A-11D-2396-08	107074125	122756985	32513575	62	5176											
DUSP27	92235	hgsc.bcm.edu	37	1	167097085	167097085	+	Missense_Mutation	SNP	A	A	C	rs377480316		TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr1:167097085A>C	ENST00000361200.2	+	6	2883	c.2717A>C	c.(2716-2718)aAa>aCa	p.K906T	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.K906T|DUSP27_ENST00000271385.5_Missense_Mutation_p.K906T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	906	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AATTCCCAGAAACCTGAAACA	0.493																																																0								A	THR/LYS	0,4406		0,0,2203	87	77	81		2717	1.5	1	1		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP27	NM_001080426.1	78	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	probably-damaging	906/1159	167097085	1,13005	2203	4300	6503	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2717A>C	chr1.hg19:g.167097085A>C	ENSP00000354483:p.Lys906Thr		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	hg19	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356232	0.41700	0.0	1.16E-4	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04454	3.62;3.62;3.62	5.25	1.46	0.22682	.	0.874767	0.09948	N	0.735044	T	0.01905	0.0060	M	0.65975	2.015	0.09310	N	1	P	0.35433	0.501	B	0.27608	0.081	T	0.42899	-0.9424	10	0.87932	D	0	-19.6906	5.4857	0.16749	0.6201:0.1386:0.2413:0.0	.	906	Q5VZP5	DUS27_HUMAN	T	906	ENSP00000354483:K906T;ENSP00000271385:K906T;ENSP00000404874:K906T	ENSP00000271385:K906T	K	+	2	0	DUSP27	165363709	0.258000	0.24033	0.973000	0.42090	0.754000	0.42855	1.679000	0.37597	0.315000	0.23110	-0.269000	0.10298	AAA		0.493	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		C	167097085	A	C	167097085	3	2	76	1	0	0	0	0	1	0	0	0	4826	14	1	5	2735	5	DUSP27	1	167097085	Missense_Mutation	SNP	A	TCGA-A4-8312-01A-11D-2396-08		167097085	82153536	1	5177											
SMARCAL1	50485	hgsc.bcm.edu	37	2	217279802	217279802	+	Silent	SNP	C	C	G			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr2:217279802C>G	ENST00000357276.4	+	3	705	c.375C>G	c.(373-375)ccC>ccG	p.P125P	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Silent_p.P125P	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	125					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCTCTCCTCCCTTGGCACAAA	0.507									Schimke Immuno-Osseous Dysplasia																																							0													88	80	82					2																	217279802		2203	4300	6503	SO:0001819	synonymous_variant	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.375C>G	chr2.hg19:g.217279802C>G			A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	hg19	CCDS2403.1																																																																																				0.507	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			G	217279802	C	G	217279802	2	3	76	1	0	0	0	0	0	0	0	1	14779	668	24	4		4	SMARCAL1	2	217279802	Silent	SNP	C	TCGA-A4-8312-01A-11D-2396-08		217279802	25919571	2	5178											
PARK2	5071	hgsc.bcm.edu	37	6	162206852	162206852	+	Missense_Mutation	SNP	G	G	C	rs34424986	byFrequency	TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr6:162206852G>C	ENST00000366898.1	-	7	925	c.823C>G	c.(823-825)Cgg>Ggg	p.R275G	PARK2_ENST00000338468.3_Missense_Mutation_p.R84G|PARK2_ENST00000366894.1_Missense_Mutation_p.R84G|PARK2_ENST00000366896.1_Missense_Mutation_p.R126G|PARK2_ENST00000366892.1_Missense_Mutation_p.R275G|PARK2_ENST00000366897.1_Missense_Mutation_p.R247G	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	275	SYT11 binding 2.		R -> W (in PARK2 and PARK; at heterozygosity it is associated with late onset Parkinson disease; impairs the ability to ubiquitinate SNCAIP; abolishes p53/TP53 transcriptional repression; dbSNP:rs34424986). {ECO:0000269|PubMed:10072423, ECO:0000269|PubMed:10824074, ECO:0000269|PubMed:11179010, ECO:0000269|PubMed:11971093, ECO:0000269|PubMed:12114481, ECO:0000269|PubMed:12116199, ECO:0000269|PubMed:12730996, ECO:0000269|PubMed:22956510}.		adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		ACAAACTGCCGATCATTGAGT	0.478																																																0			GRCh37	CM991007	PARK2	M	rs34424986						102	88	93					6																	162206852		2203	4300	6503	SO:0001583	missense	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.823C>G	chr6.hg19:g.162206852G>C	ENSP00000355865:p.Arg275Gly		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	hg19	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643036	0.67244	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.92322	0.7564	M	0.83483	2.645	0.36075	D	0.842404	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.961	D;D;D;D;P	0.91635	0.999;0.987;0.999;0.999;0.666	D	0.91610	0.5302	10	0.25106	T	0.35	.	14.0915	0.64993	0.0:0.0:0.849:0.151	.	275;126;247;275;84	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	G	275;247;126;84;84;84;275;196	ENSP00000355865:R275G;ENSP00000355863:R247G;ENSP00000355862:R126G;ENSP00000355860:R84G;ENSP00000343589:R84G;ENSP00000355858:R275G	ENSP00000343589:R84G	R	-	1	2	PARK2	162126842	0.982000	0.34865	0.751000	0.31187	0.863000	0.49368	1.685000	0.37659	1.406000	0.46857	0.650000	0.86243	CGG		0.478	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			C	162206852	G	C	162206852	3	2	76	1	0	0	0	0	1	0	0	0	11451	1057	37	4	598	4	PARK2	6	162206852	Missense_Mutation	SNP	G	TCGA-A4-8312-01A-11D-2396-08		162206852	8908215	3	5179											
TBP	6908	hgsc.bcm.edu	37	6	170871091	170871091	+	Silent	SNP	G	G	A			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr6:170871091G>A	ENST00000392092.2	+	3	546	c.267G>A	c.(265-267)caG>caA	p.Q89Q	TBP_ENST00000230354.6_Silent_p.Q89Q|TBP_ENST00000540980.1_Silent_p.Q69Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	89	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.617																																																0													20	26	24					6																	170871091		1890	3708	5598	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.267G>A	chr6.hg19:g.170871091G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	hg19	CCDS5315.1																																																																																				0.617	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871091	G	A	170871091	2	1	76	1	0	0	0	0	0	0	0	1	15649	962	34	2		2	TBP	6	170871091	Silent	SNP	G	TCGA-A4-8312-01A-11D-2396-08	8664239	170871091	243976	4	5180											
FBXW2	26190	hgsc.bcm.edu	37	9	123527053	123527053	+	Silent	SNP	G	G	A			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr9:123527053G>A	ENST00000608872.1	-	8	1336	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	FBXW2_ENST00000493559.1_Intron|FBXW2_ENST00000340778.5_Silent_p.D318D	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	383					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GGTAGCGGTTGTCAAACAGCA	0.502																																																0													92	90	91					9																	123527053		1949	4160	6109	SO:0001819	synonymous_variant	26190			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1149C>T	chr9.hg19:g.123527053G>A			B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	ENST00000608872.1	hg19	CCDS43872.1																																																																																				0.502	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			A	123527053	G	A	123527053	2	1	76	1	0	0	0	0	0	0	0	1	5768	1368	48	2		2	FBXW2	9	123527053	Silent	SNP	G	TCGA-A4-8312-01A-11D-2396-08		123527053	17686378	5	5181											
MMP13	4322	hgsc.bcm.edu	37	11	102826393	102826393	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr11:102826393C>A	ENST00000260302.3	-	1	70	c.42G>T	c.(40-42)tgG>tgT	p.W14C	MMP13_ENST00000340273.4_Missense_Mutation_p.W14C	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	14					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GACAATGAGTCCAGCTCAAGA	0.507																																																0													94	94	94					11																	102826393		2202	4299	6501	SO:0001583	missense	4322			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.42G>T	chr11.hg19:g.102826393C>A	ENSP00000260302:p.Trp14Cys		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	hg19	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	6.549	0.469578	0.12461	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.15139	2.64;2.45	5.87	5.87	0.94306	.	0.442712	0.26311	N	0.025120	T	0.11024	0.0269	N	0.14661	0.345	0.47994	D	0.999562	P	0.48640	0.913	B	0.40741	0.339	T	0.03306	-1.1050	10	0.45353	T	0.12	.	11.7621	0.51910	0.1372:0.7305:0.1323:0.0	.	14	P45452	MMP13_HUMAN	C	14	ENSP00000260302:W14C;ENSP00000339672:W14C	ENSP00000260302:W14C	W	-	3	0	MMP13	102331603	0.998000	0.40836	0.987000	0.45799	0.168000	0.22595	1.956000	0.40382	2.941000	0.99782	0.655000	0.94253	TGG		0.507	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		A	102826393	C	A	102826393	3	1	76	1	0	0	0	0	1	0	0	0	9654	856	30	4	1413	4	MMP13	11	102826393	Missense_Mutation	SNP	C	TCGA-A4-8312-01A-11D-2396-08		102826393	32180123	6	5182											
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		T	25398284	C	T	25398284	3	4	76	1	0	0	0	0	1	0	0	0	8440	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-A4-8312-01A-11D-2396-08		25398284	108453611	7	5183											
BICD1	636	hgsc.bcm.edu	37	12	32491723	32491724	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr12:32491723_32491724delAT	ENST00000281474.5	+	8	2677_2678	c.2574_2575delAT	c.(2572-2577)caatttfs	p.QF858fs	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	858					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CTGCAAGACAATTTTCACCTTC	0.406																																																0																																										SO:0001589	frameshift_variant	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2574_2575delAT	chr12.hg19:g.32491723_32491724delAT	ENSP00000281474:p.Gln858fs		A8K2C3|F8W113|O43892|O43893	Frame_Shift_Del	DEL	ENST00000281474.5	hg19	CCDS8726.1																																																																																				0.406	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		-	32491724	AT	-	32491723	7	5	76	1	0	1	0	1	0	0	0	0	1428	98	4	0	2604	0	BICD1	12	32491723	Frame_Shift_Del	DEL	AT	TCGA-A4-8312-01A-11D-2396-08	7093439	32491723	101360172	8	5184											
MTUS2	23281	hgsc.bcm.edu	37	13	29599704	29599704	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr13:29599704C>T	ENST00000431530.3	+	1	957	c.899C>T	c.(898-900)tCg>tTg	p.S300L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	290						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.S300L(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACTTTGGCATCGAAGGAAATC	0.507																																																2	Substitution - Missense(2)	endometrium(1)|central_nervous_system(1)											40	40	40					13																	29599704		2007	4188	6195	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.899C>T	chr13.hg19:g.29599704C>T	ENSP00000392057:p.Ser300Leu		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	hg19	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	10.58	1.391325	0.25118	.	.	ENSG00000132938	ENST00000431530	T	0.13089	2.62	5.49	0.716	0.18191	.	0.981254	0.08305	N	0.966293	T	0.06096	0.0158	N	0.03115	-0.41	0.09310	N	1	B	0.21309	0.054	B	0.12156	0.007	T	0.44128	-0.9348	9	.	.	.	.	10.4835	0.44708	0.0:0.587:0.0:0.413	.	290	Q5JR59	MTUS2_HUMAN	L	300	ENSP00000392057:S300L	.	S	+	2	0	MTUS2	28497704	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.040000	0.13905	0.015000	0.14971	0.561000	0.74099	TCG		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		T	29599704	C	T	29599704	3	4	76	1	0	0	0	0	1	0	0	0	9968	893	31	1	901	1	MTUS2	13	29599704	Missense_Mutation	SNP	C	TCGA-A4-8312-01A-11D-2396-08		29599704	85570174	9	5185											
SLC8A3	6547	hgsc.bcm.edu	37	14	70527578	70527578	+	Silent	SNP	C	C	T	rs376675749		TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr14:70527578C>T	ENST00000381269.2	-	3	2616	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000534137.1_Silent_p.P621P|SLC8A3_ENST00000356921.2_Silent_p.P621P|SLC8A3_ENST00000533899.1_5'UTR	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	621					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCATCCATTTCGGTTCACCAA	0.343																																																0								C	,,,,,	2,4404	4.2+/-10.8	0,2,2201	167	144	152		,,1863,1863,,1863	5.9	1	14		152	0,8600		0,0,4300	no	utr-5,intron,coding-synonymous,coding-synonymous,intron,coding-synonymous	SLC8A3	NM_001130417.1,NM_033262.3,NM_058240.2,NM_182932.1,NM_182936.1,NM_183002.1	,,,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,,,	,,621/925,621/922,,621/928	70527578	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1863G>A	chr14.hg19:g.70527578C>T			Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	hg19	CCDS35498.1																																																																																				0.343	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			T	70527578	C	T	70527578	2	4	76	1	0	0	0	0	0	0	0	1	14714	871	31	1		1	SLC8A3	14	70527578	Silent	SNP	C	TCGA-A4-8312-01A-11D-2396-08		70527578	36821962	10	5186											
TRIP11	9321	hgsc.bcm.edu	37	14	92470654	92470654	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr14:92470654T>A	ENST00000267622.4	-	11	4039	c.3666A>T	c.(3664-3666)gaA>gaT	p.E1222D		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1222					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GCTTCCACTCTTCCATTTTCT	0.443			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													79	72	75					14																	92470654		2203	4300	6503	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3666A>T	chr14.hg19:g.92470654T>A	ENSP00000267622:p.Glu1222Asp		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	hg19	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.88|11.88	1.771464|1.771464	0.31320|0.31320	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.05786|.	3.39|.	5.46|5.46	-4.33|-4.33	0.03677|0.03677	.|.	0.112824|.	0.64402|.	D|.	0.000015|.	T|.	0.44664|.	0.1304|.	L|L	0.32530|0.32530	0.975|0.975	0.41458|0.41458	D|D	0.988026|0.988026	D;D|.	0.89917|.	0.986;1.0|.	P;D|.	0.91635|.	0.78;0.999|.	T|.	0.32745|.	-0.9895|.	10|.	0.52906|.	T|.	0.07|.	.|.	8.2632|8.2632	0.31797|0.31797	0.119:0.4845:0.0:0.3964|0.119:0.4845:0.0:0.3964	.|.	958;1222|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	D|X	1222;958|938	ENSP00000267622:E1222D|.	ENSP00000267622:E1222D|.	E|R	-|-	3|1	2|2	TRIP11|TRIP11	91540407|91540407	0.238000|0.238000	0.23825|0.23825	0.822000|0.822000	0.32727|0.32727	0.150000|0.150000	0.21749|0.21749	-0.435000|-0.435000	0.06931|0.06931	-1.215000|-1.215000	0.02610|0.02610	-0.624000|-0.624000	0.04008|0.04008	GAA|AGA		0.443	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			A	92470654	T	A	92470654	3	1	76	1	0	0	0	0	1	0	0	0	16560	1606	56	5	2317	5	TRIP11	14	92470654	Missense_Mutation	SNP	T	TCGA-A4-8312-01A-11D-2396-08	21943076	92470654	14878886	11	5187											
ATP10A	57194	hgsc.bcm.edu	37	15	25972305	25972305	+	Splice_Site	SNP	A	A	T			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr15:25972305A>T	ENST00000356865.6	-	4	959		c.e4+1			NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A						ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCCGAGCCTACCTGCGTAGA	0.517																																																0													102	81	88					15																	25972305		2203	4300	6503	SO:0001630	splice_region_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.847+1T>A	chr15.hg19:g.25972305A>T			Q4G0S9|Q969I4	Splice_Site	SNP	ENST00000356865.6	hg19	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514606	0.85389	.	.	ENSG00000206190	ENST00000356865	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3129	0.74048	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP10A	23523398	1.000000	0.71417	0.995000	0.50966	0.813000	0.45954	8.600000	0.90860	2.033000	0.60031	0.460000	0.39030	.		0.517	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	Intron	T	25972305	A	T	25972305	5	4	76	1	0	0	0	0	0	0	1	0	1116	405	14	5	3722	5	ATP10A	15	25972305	Splice_Site	SNP	A	TCGA-A4-8312-01A-11D-2396-08		25972305	76559087	12	5188											
SRCAP	10847	hgsc.bcm.edu	37	16	30718524	30718524	+	Silent	SNP	G	G	T			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr16:30718524G>T	ENST00000262518.4	+	5	712	c.327G>T	c.(325-327)cgG>cgT	p.R109R	SRCAP_ENST00000344771.4_Silent_p.R109R|SRCAP_ENST00000395059.2_Silent_p.R109R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	109					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGAGACTCGGATTGCTGAGC	0.547																																																0													69	69	69					16																	30718524		1987	4166	6153	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.327G>T	chr16.hg19:g.30718524G>T			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	hg19	CCDS10689.2																																																																																				0.547	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30718524	G	T	30718524	2	4	76	1	0	0	0	0	0	0	0	1	15140	1161	41	4		4	SRCAP	16	30718524	Silent	SNP	G	TCGA-A4-8312-01A-11D-2396-08		30718524	59636229	13	5189											
SRCAP	10847	hgsc.bcm.edu	37	16	30727477	30727477	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr16:30727477T>C	ENST00000262518.4	+	17	2969	c.2584T>C	c.(2584-2586)Tcc>Ccc	p.S862P	SRCAP_ENST00000344771.4_Missense_Mutation_p.S862P|SRCAP_ENST00000395059.2_Missense_Mutation_p.S862P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	862					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGCAGGCTCTCCAAGCGTCA	0.517																																																0													137	119	125					16																	30727477		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2584T>C	chr16.hg19:g.30727477T>C	ENSP00000262518:p.Ser862Pro		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735012	0.69189	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.79749	-1.3;-1.3;-1.3	5.25	5.25	0.73442	SNF2-related (1);	0.000000	0.53938	D	0.000054	D	0.89577	0.6755	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.90981	0.4827	10	0.87932	D	0	-15.3089	14.2776	0.66191	0.0:0.0:0.0:1.0	.	862;862;862	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	P	862	ENSP00000262518:S862P;ENSP00000378499:S862P;ENSP00000343042:S862P	ENSP00000262518:S862P	S	+	1	0	SRCAP	30634978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.712000	0.84684	2.201000	0.70794	0.459000	0.35465	TCC		0.517	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		C	30727477	T	C	30727477	3	2	76	1	0	0	0	0	1	0	0	0	15140	1551	54	3	2642	3	SRCAP	16	30727477	Missense_Mutation	SNP	T	TCGA-A4-8312-01A-11D-2396-08	8953	30727477	59627276	14	5190											
LYZL6	57151	hgsc.bcm.edu	37	17	34261844	34261844	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr17:34261844C>T	ENST00000585556.1	-	5	737	c.403G>A	c.(403-405)Ggc>Agc	p.G135S	LYZL6_ENST00000492340.2_5'Flank|LYZL6_ENST00000293274.4_Missense_Mutation_p.G135S|LYZL6_ENST00000394523.3_Missense_Mutation_p.G135S			O75951	LYZL6_HUMAN	lysozyme-like 6	135					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTGGCCGGCCTGAACAGTGC	0.542																																																0													89	82	85					17																	34261844		2203	4300	6503	SO:0001583	missense	57151			AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.403G>A	chr17.hg19:g.34261844C>T	ENSP00000468094:p.Gly135Ser		Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	hg19	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410784	0.62399	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.51325	0.71;0.71	4.65	4.65	0.58169	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000004	T	0.66336	0.2779	M	0.87547	2.89	0.23988	N	0.996253	D	0.57257	0.979	P	0.56088	0.791	T	0.63844	-0.6545	10	0.62326	D	0.03	-0.303	13.7598	0.62959	0.0:1.0:0.0:0.0	.	135	O75951	LYZL6_HUMAN	S	135	ENSP00000293274:G135S;ENSP00000378031:G135S	ENSP00000293274:G135S	G	-	1	0	LYZL6	31285957	0.058000	0.20735	0.004000	0.12327	0.101000	0.19017	2.826000	0.48104	2.518000	0.84900	0.563000	0.77884	GGC		0.542	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		T	34261844	C	T	34261844	3	4	76	1	0	0	0	0	1	0	0	0	9136	681	24	2	47	2	LYZL6	17	34261844	Missense_Mutation	SNP	C	TCGA-A4-8312-01A-11D-2396-08		34261844	46933366	15	5191											
MYCBPAP	84073	hgsc.bcm.edu	37	17	48600413	48600413	+	Silent	SNP	A	A	T			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr17:48600413A>T	ENST00000323776.5	+	11	1662	c.1500A>T	c.(1498-1500)cgA>cgT	p.R500R	MYCBPAP_ENST00000436259.2_Silent_p.R463R	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ATGACTGGCGACGGCAGCACC	0.507																																																0													108	105	106					17																	48600413		2203	4300	6503	SO:0001819	synonymous_variant	84073			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1500A>T	chr17.hg19:g.48600413A>T				Silent	SNP	ENST00000323776.5	hg19	CCDS32680.2																																																																																				0.507	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		T	48600413	A	T	48600413	2	4	76	1	0	0	0	0	0	0	0	1	10021	262	10	5		5	MYCBPAP	17	48600413	Silent	SNP	A	TCGA-A4-8312-01A-11D-2396-08	14338569	48600413	32594797	16	5192											
ZNF626	199777	hgsc.bcm.edu	37	19	20807580	20807581	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr19:20807580_20807581GG>AA	ENST00000601440.1	-	4	1248_1249	c.1102_1103CC>TT	c.(1102-1104)CCc>TTc	p.P368F	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ACATTTGTAGGGTTTCTCTCCA	0.396																																																0																																										SO:0001583	missense	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1102_1103delinsAA	chr19.hg19:g.20807580_20807581delinsAA	ENSP00000469958:p.Pro368Phe		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	hg19	CCDS42535.1																																																																																				0.396	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		AA	20807581	GG	AA	20807580	3	1	76	1	0	0	0	0	1	0	0	0	18055	1232	43	2	487	2	ZNF626	19	20807580	Missense_Mutation	DNP	GG	TCGA-A4-8312-01A-11D-2396-08		20807580	38321403	17	5193											
IL29	282618	hgsc.bcm.edu	37	19	39787490	39787490	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr19:39787490T>G	ENST00000333625.2	+	2	314	c.217T>G	c.(217-219)Ttc>Gtc	p.F73V		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	73					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										CTCTCCTGTCTTCCCCGGGAA	0.572																																																0													91	86	88					19																	39787490		2203	4300	6503	SO:0001583	missense	282618			AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"Interferons"	18363	protein-coding gene	gene with protein product		607403	"interleukin 29", "interleukin 29 (interferon, lambda 1)"	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.217T>G	chr19.hg19:g.39787490T>G	ENSP00000329991:p.Phe73Val		A0AV25|Q17R34	Missense_Mutation	SNP	ENST00000333625.2	hg19	CCDS12531.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470360	0.63625	.	.	ENSG00000182393	ENST00000333625	T	0.35421	1.31	3.69	3.69	0.42338	.	0.094954	0.46758	D	0.000269	T	0.59770	0.2218	M	0.84846	2.72	0.25011	N	0.991407	D	0.71674	0.998	D	0.71870	0.975	T	0.54098	-0.8344	10	0.66056	D	0.02	-28.5284	10.3642	0.44012	0.0:0.0:0.0:1.0	.	73	Q8IU54	IL29_HUMAN	V	73	ENSP00000329991:F73V	ENSP00000329991:F73V	F	+	1	0	IL29	44479330	0.956000	0.32656	0.939000	0.37840	0.068000	0.16541	1.113000	0.31184	1.553000	0.49476	0.374000	0.22700	TTC		0.572	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	NM_172140		G	39787490	T	G	39787490	3	3	76	1	0	0	0	0	1	0	0	0	7687	1609	56	5	223	5	IL29	19	39787490	Missense_Mutation	SNP	T	TCGA-A4-8312-01A-11D-2396-08	18979910	39787490	19341493	18	5194											
C20orf160	140706	hgsc.bcm.edu	37	20	30617596	30617596	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chr20:30617596G>T	ENST00000300415.8	+	9	1370	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	CCM2L_ENST00000262659.8_Missense_Mutation_p.Q431H|RP1-310O13.7_ENST00000449519.1_RNA			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	453																	CTATTGCACAGGCCTGCTGAA	0.637																																																0													63	58	60					20																	30617596		2203	4300	6503	SO:0001583	missense	140706			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 160"	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1357G>T	chr20.hg19:g.30617596G>T	ENSP00000300415:p.Gly453Cys		Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.66|15.66	2.898002|2.898002	0.52227|0.52227	.|.	.|.	ENSG00000101331|ENSG00000101331	ENST00000300415;ENST00000452892|ENST00000262659	T;T|T	0.37411|0.65916	1.2;1.2|-0.18	5.65|5.65	4.64|4.64	0.57946|0.57946	.|.	0.293408|.	0.36778|.	N|.	0.002419|.	T|T	0.58935|0.58935	0.2157|0.2157	.|.	.|.	.|.	0.28263|0.28263	N|N	0.924728|0.924728	D|B	0.63046|0.33512	0.992|0.415	P|B	0.56216|0.34301	0.794|0.179	T|T	0.60727|0.60727	-0.7206|-0.7206	9|8	0.62326|0.66056	D|D	0.03|0.02	-45.7996|-45.7996	17.3707|17.3707	0.87376|0.87376	0.0:0.1353:0.8647:0.0|0.0:0.1353:0.8647:0.0	.|.	453|431	Q9NUG4|Q9NUG4-2	CT160_HUMAN|.	C|H	453;206|431	ENSP00000300415:G453C;ENSP00000392448:G206C|ENSP00000262659:Q431H	ENSP00000300415:G453C|ENSP00000262659:Q431H	G|Q	+|+	1|3	0|2	C20orf160|C20orf160	30081257|30081257	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.898000|0.898000	0.52572|0.52572	3.363000|3.363000	0.52321|0.52321	2.648000|2.648000	0.89879|0.89879	0.563000|0.563000	0.77884|0.77884	GGC|CAG		0.637	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		T	30617596	G	T	30617596	3	4	76	1	0	0	0	0	1	0	0	0	2095	991	35	4	1323	4	C20orf160	20	30617596	Missense_Mutation	SNP	G	TCGA-A4-8312-01A-11D-2396-08		30617596	32407924	19	5195											
PHKA2	5256	hgsc.bcm.edu	37	X	18972370	18972370	+	Splice_Site	SNP	A	A	G			TCGA-A4-8312-01A-11D-2396-08	TCGA-A4-8312-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f9961fbe-ca3b-4c52-b923-82430aef5a16	16e755f0-8784-4438-a9e3-0bc481bbaf86	g.chrX:18972370A>G	ENST00000379942.4	-	2	903		c.e2+1			NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGTCACTATTACCTGCTCCAG	0.537																																																0													138	107	117					X																	18972370		2203	4300	6503	SO:0001630	splice_region_variant	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.237+1T>C	chrX.hg19:g.18972370A>G			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Splice_Site	SNP	ENST00000379942.4	hg19	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266542	0.59540	.	.	ENSG00000044446	ENST00000379942	.	.	.	5.54	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0604	0.47944	0.8588:0.0:0.0:0.1412	.	.	.	.	.	-1	.	.	.	-	.	.	PHKA2	18882291	1.000000	0.71417	0.991000	0.47740	0.625000	0.37756	9.284000	0.95882	0.713000	0.32060	0.486000	0.48141	.		0.537	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	Intron	G	18972370	A	G	18972370	5	3	76	1	0	0	0	0	0	0	1	0	11846	405	14	3	3596	3	PHKA2	23	18972370	Splice_Site	SNP	A	TCGA-A4-8312-01A-11D-2396-08		18972370	136298190	20	5196											
ARID1A	8289	hgsc.bcm.edu	37	1	27107195	27107195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:27107195C>A	ENST00000324856.7	+	20	7177	c.6806C>A	c.(6805-6807)tCa>tAa	p.S2269*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S2052*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.S597*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S1886*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2269					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S2269*(1)|p.S2269L(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGATGAACTCATTGGTTTCA	0.532			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	2	Substitution - Missense(1)|Substitution - Nonsense(1)	urinary_tract(1)|endometrium(1)											126	99	109					1																	27107195		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6806C>A	chr1.hg19:g.27107195C>A	ENSP00000320485:p.Ser2269*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	hg19	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	42	9.499439	0.99187	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.	.	.	4.6	4.6	0.57074	.	0.216209	0.40385	N	0.001101	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9686	13.6859	0.62515	0.0:0.8453:0.1547:0.0	.	.	.	.	X	2269;2052;1886;597	.	ENSP00000320485:S2269X	S	+	2	0	ARID1A	26979782	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	5.627000	0.67784	2.552000	0.86080	0.591000	0.81541	TCA		0.532	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		A	27107195	C	A	27107195	4	1	77	1	0	0	0	0	0	1	0	0	913	838	29	4	6884	4	ARID1A	1	27107195	Nonsense_Mutation	SNP	C	TCGA-A4-8515-01A-11D-2396-08		27107195	222143426	1	5197											
AMY1A	276	hgsc.bcm.edu	37	1	104205519	104205520	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:104205519_104205520insT	ENST00000370083.4	+	10	1452_1453	c.1232_1233insT	c.(1231-1236)aatttcfs	p.NF411fs	AMY1A_ENST00000494409.1_3'UTR	NM_001008221.1|NM_004038.3	NP_001008222.1|NP_004029.2	P04745	AMY1_HUMAN	amylase, alpha 1A (salivary)	411					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)						all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		AACATGGTTAATTTCCGCAATG	0.356																																					Pancreas(131;743 2392 43382 44986)											0																																										SO:0001589	frameshift_variant	278				CCDS30782.1	1p21	2012-10-02	2007-05-03		ENSG00000237763	ENSG00000237763	3.2.1.1		474	protein-coding gene	gene with protein product		104700	"amylase, alpha 1A; salivary"	AMY1			Standard	XM_005270755		Approved		uc001duv.3	P04745	OTTHUMG00000011020	ENST00000370083.4:c.1235dupT	chr1.hg19:g.104205522_104205522dupT	ENSP00000359100:p.Asn411fs		A6NJS5|A8K8H6|Q13763|Q5T083	Frame_Shift_Ins	INS	ENST00000370083.4	hg19	CCDS30782.1																																																																																				0.356	AMY1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030304.2	NM_001008221		T	104205520	-	T	104205519	7	5	77	1	0	1	1	0	0	0	0	0	591	101	4	0	1266	0	AMY1A	1	104205519	Frame_Shift_Ins	INS	-	TCGA-A4-8515-01A-11D-2396-08	77098324	104205519	145045102	2	5198											
AMY1A	277	hgsc.bcm.edu	37	1	104231690	104231691	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:104231690_104231691insA	ENST00000330330.5	-	10	1529_1530	c.1235_1236insT	c.(1234-1236)ttcfs	p.F412fs	AMY1B_ENST00000370080.3_Frame_Shift_Ins_p.F412fs	NM_001008218.1	NP_001008219.1	P04745	AMY1_HUMAN	amylase, alpha 1B (salivary)	412					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CTACATTGCGGAAATTAACCAT	0.356																																																0																																										SO:0001589	frameshift_variant	278				CCDS30783.1	1p21	2012-10-02	2007-05-03		ENSG00000174876	ENSG00000174876	3.2.1.1		475	protein-coding gene	gene with protein product		104701	"amylase, alpha 1B; salivary"	AMY1			Standard	XM_005270758		Approved			P04745	OTTHUMG00000011021	ENST00000330330.5:c.1236dupT	chr1.hg19:g.104231693_104231693dupA	ENSP00000330484:p.Phe412fs		A6NJS5|A8K8H6|Q13763|Q5T083	Frame_Shift_Ins	INS	ENST00000330330.5	hg19	CCDS30783.1																																																																																				0.356	AMY1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030309.1	NM_001008218		A	104231691	-	A	104231690	7	5	77	1	0	1	1	0	0	0	0	0	591	1165	41	0	1883	0	AMY1A	1	104231690	Frame_Shift_Ins	INS	-	TCGA-A4-8515-01A-11D-2396-08	26171	104231690	145018931	3	5199											
AMY1A	278	hgsc.bcm.edu	37	1	104299657	104299658	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:104299657_104299658insT	ENST00000370079.3	+	9	1296_1297	c.1232_1233insT	c.(1231-1236)aatttcfs	p.NF411fs		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	411					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		AACATGGTTAATTTCCGCAATG	0.356																																																0																																										SO:0001589	frameshift_variant	278				CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"amylase, alpha 1C; salivary"	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.1235dupT	chr1.hg19:g.104299660_104299660dupT	ENSP00000359096:p.Asn411fs		A6NJS5|A8K8H6|Q13763|Q5T083	Frame_Shift_Ins	INS	ENST00000370079.3	hg19	CCDS30784.1																																																																																				0.356	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030375.1	NM_001008219		T	104299658	-	T	104299657	7	5	77	1	0	1	1	0	0	0	0	0	591	101	4	0	4418	0	AMY1A	1	104299657	Frame_Shift_Ins	INS	-	TCGA-A4-8515-01A-11D-2396-08	67967	104299657	144950964	4	5200											
C1orf194	127003	hgsc.bcm.edu	37	1	109649721	109649721	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:109649721G>A	ENST00000369948.3	-	3	297	c.222C>T	c.(220-222)ttC>ttT	p.F74F	C1orf194_ENST00000369949.4_Silent_p.F62F|C1orf194_ENST00000369945.3_Silent_p.F35F			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	74										large_intestine(2)|lung(2)|ovary(2)	6						CTGCTAAGCGGAAGTCCAGGT	0.483																																																0													210	178	188					1																	109649721		1568	3582	5150	SO:0001819	synonymous_variant	127003				CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.222C>T	chr1.hg19:g.109649721G>A			Q5T5A3	Silent	SNP	ENST00000369948.3	hg19																																																																																					0.483	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000032416.2	NM_001122961		A	109649721	G	A	109649721	2	1	77	1	0	0	0	0	0	0	0	1	2027	1165	41	2		2	C1orf194	1	109649721	Silent	SNP	G	TCGA-A4-8515-01A-11D-2396-08	5350064	109649721	139600900	5	5201											
RFX5	5993	hgsc.bcm.edu	37	1	151314667	151314667	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:151314667G>T	ENST00000290524.4	-	11	2024	c.1846C>A	c.(1846-1848)Cca>Aca	p.P616T	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452513.2_Missense_Mutation_p.P576T|RFX5_ENST00000368870.2_Missense_Mutation_p.P616T|RFX5_ENST00000452671.2_Missense_Mutation_p.P616T|RFX5_ENST00000478564.1_5'Flank	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	616					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGTATCATGGGGGTGTTGCT	0.453																																																0													133	126	128					1																	151314667		2203	4300	6503	SO:0001583	missense	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1846C>A	chr1.hg19:g.151314667G>T	ENSP00000290524:p.Pro616Thr		B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	hg19	CCDS994.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686722	0.68157	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513	T;T;T;T	0.74632	-0.68;-0.68;-0.68;-0.86	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.76111	0.3942	L	0.36672	1.1	0.35535	D	0.8026	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.941	T	0.79593	-0.1739	10	0.87932	D	0	.	14.4852	0.67611	0.0:0.0:1.0:0.0	.	576;616	B7Z848;P48382	.;RFX5_HUMAN	T	616;616;616;576	ENSP00000290524:P616T;ENSP00000357864:P616T;ENSP00000389130:P616T;ENSP00000398388:P576T	ENSP00000290524:P616T	P	-	1	0	RFX5	149581291	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.473000	0.60196	2.806000	0.96561	0.591000	0.81541	CCA		0.453	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		T	151314667	G	T	151314667	3	4	77	1	0	0	0	0	1	0	0	0	13272	1232	43	4	8	4	RFX5	1	151314667	Missense_Mutation	SNP	G	TCGA-A4-8515-01A-11D-2396-08	41664946	151314667	97935954	6	5202											
USH2A	7399	hgsc.bcm.edu	37	1	216017693	216017693	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:216017693A>T	ENST00000307340.3	-	46	9587	c.9201T>A	c.(9199-9201)aaT>aaA	p.N3067K	USH2A_ENST00000366943.2_Missense_Mutation_p.N3067K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3067	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCCAGGCACATTCATTCCAG	0.393										HNSCC(13;0.011)																																						0													98	99	99					1																	216017693		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9201T>A	chr1.hg19:g.216017693A>T	ENSP00000305941:p.Asn3067Lys		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	8.287	0.816795	0.16607	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53423	0.62;0.62	6.04	0.803	0.18691	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.298923	0.23197	N	0.050821	T	0.29749	0.0743	L	0.35723	1.085	0.19775	N	0.999957	B	0.13594	0.008	B	0.08055	0.003	T	0.15578	-1.0432	10	0.17832	T	0.49	.	6.0414	0.19736	0.4009:0.2965:0.3026:0.0	.	3067	O75445	USH2A_HUMAN	K	3067	ENSP00000305941:N3067K;ENSP00000355910:N3067K	ENSP00000305941:N3067K	N	-	3	2	USH2A	214084316	0.008000	0.16893	0.941000	0.38009	0.993000	0.82548	0.037000	0.13840	0.158000	0.19367	0.529000	0.55759	AAT		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216017693	A	T	216017693	3	4	77	1	0	0	0	0	1	0	0	0	17041	214	8	5	6515	5	USH2A	1	216017693	Missense_Mutation	SNP	A	TCGA-A4-8515-01A-11D-2396-08	64703026	216017693	33232928	7	5203											
SIPA1L2	57568	hgsc.bcm.edu	37	1	232650317	232650317	+	Missense_Mutation	SNP	G	G	A	rs371322486		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr1:232650317G>A	ENST00000366630.1	-	2	1127	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R257C			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	257					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCTGAGATGCGGACAAATTCT	0.502																																																0								G	CYS/ARG	1,3767		0,1,1883	68	67	67		769	5.4	1	1		67	0,8236		0,0,4118	no	missense	SIPA1L2	NM_020808.3	180	0,1,6001	AA,AG,GG		0.0,0.0265,0.0083	benign	257/1723	232650317	1,12003	1884	4118	6002	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.769C>T	chr1.hg19:g.232650317G>A	ENSP00000355589:p.Arg257Cys		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	hg19	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588865	0.28357	2.65E-4	0.0	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.79749	-1.3;-1.3	5.44	5.44	0.79542	.	0.117092	0.56097	D	0.000023	T	0.69187	0.3083	N	0.25647	0.755	0.49483	D	0.999794	B	0.19935	0.04	B	0.12837	0.008	T	0.63963	-0.6518	10	0.37606	T	0.19	-23.1003	12.1037	0.53798	0.0:0.0:0.7162:0.2838	.	257	Q9P2F8	SI1L2_HUMAN	C	257	ENSP00000355589:R257C;ENSP00000262861:R257C	ENSP00000262861:R257C	R	-	1	0	SIPA1L2	230716940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.388000	0.59633	2.834000	0.97654	0.650000	0.86243	CGC		0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		A	232650317	G	A	232650317	3	1	77	1	0	0	0	0	1	0	0	0	14336	1116	39	1	4483	1	SIPA1L2	1	232650317	Missense_Mutation	SNP	G	TCGA-A4-8515-01A-11D-2396-08	16632624	232650317	16600304	8	5204											
C2orf71	388939	hgsc.bcm.edu	37	2	29297095	29297096	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr2:29297095_29297096insA	ENST00000331664.5	-	1	31_32	c.32_33insT	c.(31-33)gtafs	p.V11fs		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	11					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CAACGCTGTTTACAAGGTCACT	0.45																																																0																																										SO:0001589	frameshift_variant	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.33dupT	chr2.hg19:g.29297096_29297096dupA	ENSP00000332809:p.Val11fs			Frame_Shift_Ins	INS	ENST00000331664.5	hg19	CCDS42669.1																																																																																				0.45	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		A	29297096	-	A	29297095	7	5	77	1	0	1	1	0	0	0	0	0	2193	1741	61	0	3841	0	C2orf71	2	29297095	Frame_Shift_Ins	INS	-	TCGA-A4-8515-01A-11D-2396-08		29297095	213902278	9	5205											
PELI1	57162	hgsc.bcm.edu	37	2	64323347	64323347	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr2:64323347G>A	ENST00000358912.4	-	6	1044	c.602C>T	c.(601-603)tCc>tTc	p.S201F		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	201					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S201Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TCCAGGCTTGGAGTCTTCTGT	0.453																																																1	Substitution - Missense(1)	lung(1)											166	151	156					2																	64323347		2203	4300	6503	SO:0001583	missense	57162				CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"Pellino homologs"	8827	protein-coding gene	gene with protein product		614797	"pellino (Drosophila) homolog 1", "pellino homolog 1 (Drosophila)"			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.602C>T	chr2.hg19:g.64323347G>A	ENSP00000351789:p.Ser201Phe		Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	hg19	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917014	0.92249	.	.	ENSG00000197329	ENST00000358912	T	0.53423	0.62	5.65	5.65	0.86999	.	0.096296	0.64402	D	0.000001	T	0.62720	0.2451	M	0.74881	2.28	0.80722	D	1	P	0.48911	0.917	P	0.50490	0.642	T	0.66044	-0.6021	10	0.72032	D	0.01	-12.6236	20.0965	0.97849	0.0:0.0:1.0:0.0	.	201	Q96FA3	PELI1_HUMAN	F	201	ENSP00000351789:S201F	ENSP00000351789:S201F	S	-	2	0	PELI1	64176851	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	TCC		0.453	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		A	64323347	G	A	64323347	3	1	77	1	0	0	0	0	1	0	0	0	11723	1174	41	2	662	2	PELI1	2	64323347	Missense_Mutation	SNP	G	TCGA-A4-8515-01A-11D-2396-08	35026252	64323347	178876026	10	5206											
RAD18	56852	hgsc.bcm.edu	37	3	8955405	8955406	+	Splice_Site	INS	-	-	TG			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr3:8955405_8955406insTG	ENST00000264926.2	-	8	1006		c.e8-1			NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase						DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ATTTCAGCAGCTGTTAAAATAA	0.317								Rad6 pathway																																								0																																										SO:0001630	splice_region_variant	56852				CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.890-1->CA	chr3.hg19:g.8955406_8955407dupTG			Q58F55|Q9NRT6	Splice_Site	INS	ENST00000264926.2	hg19	CCDS2571.1																																																																																				0.317	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165	Intron	TG	8955406	-	TG	8955405	8	5	77	1	0	1	1	0	0	0	1	0	12986	811	28	0	622	0	RAD18	3	8955405	Splice_Site	INS	-	TCGA-A4-8515-01A-11D-2396-08		8955405	189067025	11	5207											
IQSEC1	9922	hgsc.bcm.edu	37	3	12957106	12957106	+	Silent	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr3:12957106C>T	ENST00000273221.4	-	7	2406	c.2190G>A	c.(2188-2190)gtG>gtA	p.V730V		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	730					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTTTTTCCCCACAATGAGCT	0.602																																																0													187	140	156					3																	12957106		2203	4300	6503	SO:0001819	synonymous_variant	9922			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2190G>A	chr3.hg19:g.12957106C>T			O94863|Q96D85	Silent	SNP	ENST00000273221.4	hg19	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	C	8.705	0.910574	0.17833	.	.	ENSG00000144711	ENST00000450726	.	.	.	4.54	3.59	0.41128	.	.	.	.	.	T	0.46132	0.1377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43393	-0.9394	4	.	.	.	.	3.2074	0.06671	0.1579:0.5539:0.1539:0.1342	.	.	.	.	R	731	.	.	G	-	1	0	IQSEC1	12932106	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	0.932000	0.28884	2.229000	0.72834	0.655000	0.94253	GGG		0.602	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		T	12957106	C	T	12957106	2	4	77	1	0	0	0	0	0	0	0	1	7819	581	21	2		2	IQSEC1	3	12957106	Silent	SNP	C	TCGA-A4-8515-01A-11D-2396-08	4001701	12957106	185065324	12	5208											
GOLGA4	2803	hgsc.bcm.edu	37	3	37369907	37369907	+	Splice_Site	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr3:37369907A>G	ENST00000361924.2	+	15	6314	c.5940A>G	c.(5938-5940)aaA>aaG	p.K1980K	GOLGA4_ENST00000356847.4_Splice_Site_p.K2002K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1980	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TATTACTCAGACAGGAGCAGG	0.413																																																0													152	156	155					3																	37369907		2203	4300	6503	SO:0001630	splice_region_variant	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5940-1A>G	chr3.hg19:g.37369907A>G			F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	hg19	CCDS2666.1																																																																																				0.413	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	Silent	G	37369907	A	G	37369907	5	3	77	1	0	0	0	0	0	0	1	0	6557	289	10	3	6068	3	GOLGA4	3	37369907	Splice_Site	SNP	A	TCGA-A4-8515-01A-11D-2396-08	24412801	37369907	160652523	13	5209											
UGDH	7358	hgsc.bcm.edu	37	4	39515753	39515753	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr4:39515753A>G	ENST00000316423.6	-	3	556	c.214T>C	c.(214-216)Tct>Cct	p.S72P	UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Missense_Mutation_p.S72P|UGDH_ENST00000501493.2_Missense_Mutation_p.S72P	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	72					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.S72fs*18(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						ATATTGGTAGAAAAAAAAAGA	0.299																																																1	Deletion - Frameshift(1)	large_intestine(1)											64	75	72					4																	39515753		2201	4290	6491	SO:0001583	missense	7358			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.214T>C	chr4.hg19:g.39515753A>G	ENSP00000319501:p.Ser72Pro		B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	hg19	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.642875	0.87859	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698	T;T;T;T;T;T;T	0.78003	-1.14;-1.13;-1.14;-1.14;-1.14;-1.14;-1.14	5.66	5.66	0.87406	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90700	0.7082	M	0.93197	3.39	0.80722	D	1	D;P	0.71674	0.998;0.752	D;B	0.73708	0.981;0.32	D	0.92839	0.6287	10	0.66056	D	0.02	-3.2805	15.077	0.72084	1.0:0.0:0.0:0.0	.	72;72	B3KUU2;O60701	.;UGDH_HUMAN	P	72;72;72;85;72;72;72	ENSP00000319501:S72P;ENSP00000422909:S72P;ENSP00000421757:S72P;ENSP00000421954:S85P;ENSP00000425834:S72P;ENSP00000422603:S72P;ENSP00000422565:S72P	ENSP00000319501:S72P	S	-	1	0	UGDH	39192148	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.263000	0.89864	2.148000	0.66965	0.454000	0.30748	TCT		0.299	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		G	39515753	A	G	39515753	3	3	77	1	0	0	0	0	1	0	0	0	16945	246	9	3	1310	3	UGDH	4	39515753	Missense_Mutation	SNP	A	TCGA-A4-8515-01A-11D-2396-08		39515753	151638523	14	5210											
SORBS2	8470	hgsc.bcm.edu	37	4	186545386	186545386	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr4:186545386G>T	ENST00000284776.7	-	13	1694	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.F495L|SORBS2_ENST00000431808.1_Missense_Mutation_p.F395L|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.F299L|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	395					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCGGGTCCGGGAAGCTATCGC	0.577																																					Esophageal Squamous(153;41 2433 9491 36028)											0													62	58	59					4																	186545386		2203	4300	6503	SO:0001583	missense	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1185C>A	chr4.hg19:g.186545386G>T	ENSP00000284776:p.Phe395Leu		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	hg19	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	1.601	-0.526481	0.04141	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.35236	1.43;1.43;1.32;1.42	5.72	-0.19	0.13256	.	0.433914	0.25001	N	0.033913	T	0.23572	0.0570	L	0.50333	1.59	0.24909	N	0.992056	P;P;B	0.35612	0.512;0.512;0.329	B;B;B	0.35073	0.195;0.18;0.084	T	0.29822	-0.9999	10	0.10111	T	0.7	-15.4985	5.7099	0.17929	0.4632:0.2512:0.2856:0.0	.	299;495;395	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	L	395;395;299;495	ENSP00000284776:F395L;ENSP00000411764:F395L;ENSP00000397482:F299L;ENSP00000347852:F495L	ENSP00000284776:F395L	F	-	3	2	SORBS2	186782380	0.867000	0.29959	0.659000	0.29680	0.299000	0.27559	-0.021000	0.12504	-0.396000	0.07703	0.558000	0.71614	TTC		0.577	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		T	186545386	G	T	186545386	3	4	77	1	0	0	0	0	1	0	0	0	14934	1165	41	4	2153	4	SORBS2	4	186545386	Missense_Mutation	SNP	G	TCGA-A4-8515-01A-11D-2396-08	147029633	186545386	4608890	15	5211											
MTRR	4552	hgsc.bcm.edu	37	5	7886796	7886796	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr5:7886796A>G	ENST00000264668.2	+	8	1237	c.1207A>G	c.(1207-1209)Atc>Gtc	p.I403V	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000440940.2_Missense_Mutation_p.I376V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	403	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GTGTCTTGAAATCCGAGCAAT	0.363																																																0													129	124	126					5																	7886796		2203	4300	6503	SO:0001583	missense	4552			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1207A>G	chr5.hg19:g.7886796A>G	ENSP00000264668:p.Ile403Val		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	hg19	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176144	0.78564	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.42900	0.96;0.96	5.37	5.37	0.77165	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.047649	0.85682	D	0.000000	T	0.59851	0.2224	M	0.72353	2.195	0.80722	D	1	D	0.64830	0.994	P	0.62649	0.905	T	0.62756	-0.6787	10	0.54805	T	0.06	-26.3682	12.5449	0.56193	0.8615:0.1384:0.0:0.0	.	403	Q9UBK8	MTRR_HUMAN	V	403;376	ENSP00000264668:I403V;ENSP00000402510:I376V	ENSP00000264668:I403V	I	+	1	0	MTRR	7939796	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.194000	0.65125	2.038000	0.60285	0.533000	0.62120	ATC		0.363	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			G	7886796	A	G	7886796	3	3	77	1	0	0	0	0	1	0	0	0	9963	101	4	3	1237	3	MTRR	5	7886796	Missense_Mutation	SNP	A	TCGA-A4-8515-01A-11D-2396-08		7886796	173028464	16	5212											
HLA-B	3106	hgsc.bcm.edu	37	6	31323288	31323288	+	Frame_Shift_Del	DEL	G	G	-	rs74428022		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr6:31323288delG	ENST00000412585.2	-	4	729	c.701delC	c.(700-702)cctfs	p.P234fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	234	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GATCTCCGCAGGGTAGAAACC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																							0													83	82	82					6																	31323288		2203	4298	6501	SO:0001589	frameshift_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.701delC	chr6.hg19:g.31323288delG	ENSP00000399168:p.Pro234fs		Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	hg19	CCDS34394.1																																																																																				0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		-	31323288	G	-	31323288	7	5	77	1	0	1	0	1	0	0	0	0	7198	1000	35	0	403	0	HLA-B	6	31323288	Frame_Shift_Del	DEL	G	TCGA-A4-8515-01A-11D-2396-08		31323288	139791779	17	5213											
FAM46A	55603	hgsc.bcm.edu	37	6	82461655	82461655	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr6:82461655C>A	ENST00000320172.6	-	2	518	c.204G>T	c.(202-204)tgG>tgT	p.W68C	FAM46A_ENST00000369756.3_Missense_Mutation_p.W149C|FAM46A_ENST00000369754.3_Missense_Mutation_p.W87C	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	68					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		GCACTTGCTCCCAGTTCAGCA	0.647																																																0													57	52	54					6																	82461655		2184	4283	6467	SO:0001583	missense	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.204G>T	chr6.hg19:g.82461655C>A	ENSP00000318298:p.Trp68Cys		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	hg19	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404404	0.62288	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.23147	1.92;1.92;1.92	5.44	5.44	0.79542	Domain of unknown function DUF1693 (1);	0.056200	0.85682	D	0.000000	T	0.47600	0.1454	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.36114	-0.9761	9	.	.	.	-2.8137	19.0555	0.93062	0.0:1.0:0.0:0.0	.	68;87	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	C	87;68;149	ENSP00000358769:W87C;ENSP00000318298:W68C;ENSP00000358771:W149C	.	W	-	3	0	FAM46A	82518374	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	5.897000	0.69831	2.837000	0.97791	0.655000	0.94253	TGG		0.647	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			A	82461655	C	A	82461655	3	1	77	1	0	0	0	0	1	0	0	0	5567	624	22	4	1132	4	FAM46A	6	82461655	Missense_Mutation	SNP	C	TCGA-A4-8515-01A-11D-2396-08	51138367	82461655	88653412	18	5214											
MDN1	23195	hgsc.bcm.edu	37	6	90411386	90411386	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr6:90411386T>A	ENST00000369393.3	-	55	8433	c.8318A>T	c.(8317-8319)gAa>gTa	p.E2773V	MDN1_ENST00000428876.1_Missense_Mutation_p.E2773V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2773					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTCTGAACTTCTTTGTAATA	0.418																																																0													40	41	41					6																	90411386		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8318A>T	chr6.hg19:g.90411386T>A	ENSP00000358400:p.Glu2773Val		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355386	0.61293	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03801	3.8;3.8	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.05686	0.0149	L	0.27053	0.805	0.53688	D	0.999978	D	0.71674	0.998	P	0.59115	0.852	T	0.49679	-0.8914	10	0.44086	T	0.13	.	16.1255	0.81392	0.0:0.0:0.0:1.0	.	2773	Q9NU22	MDN1_HUMAN	V	2773	ENSP00000358400:E2773V;ENSP00000413970:E2773V	ENSP00000358400:E2773V	E	-	2	0	MDN1	90468107	1.000000	0.71417	0.919000	0.36401	0.880000	0.50808	7.197000	0.77814	2.205000	0.71048	0.477000	0.44152	GAA		0.418	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			A	90411386	T	A	90411386	3	1	77	1	0	0	0	0	1	0	0	0	9417	1783	62	5	8664	5	MDN1	6	90411386	Missense_Mutation	SNP	T	TCGA-A4-8515-01A-11D-2396-08	7949731	90411386	80703681	19	5215											
ECHDC1	55862	hgsc.bcm.edu	37	6	127611395	127611395	+	Silent	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr6:127611395T>C	ENST00000531967.1	-	6	1046	c.543A>G	c.(541-543)agA>agG	p.R181R	ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454859.3_Silent_p.R175R|ECHDC1_ENST00000430841.2_Silent_p.R175R|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000474289.2_Silent_p.R175R|ECHDC1_ENST00000488087.1_5'UTR|ECHDC1_ENST00000454591.2_Silent_p.R100R|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000309620.9_Silent_p.R158R	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	181						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TGTGGACGAATCTGATCTTAC	0.408																																																0													65	58	60					6																	127611395		1869	4110	5979	SO:0001819	synonymous_variant	55862			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"enoyl Coenzyme A hydratase domain containing 1"			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.543A>G	chr6.hg19:g.127611395T>C			A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Silent	SNP	ENST00000531967.1	hg19	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.430675	0.25726	.	.	ENSG00000093144	ENST00000436638;ENST00000460558	.	.	.	5.65	2.0	0.26442	.	.	.	.	.	T	0.44829	0.1312	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36578	-0.9742	4	.	.	.	.	9.6944	0.40147	0.0:0.2675:0.0:0.7325	.	.	.	.	G	189;54	.	.	D	-	2	0	ECHDC1	127653088	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.054000	0.30455	0.414000	0.25790	0.533000	0.62120	GAT		0.408	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			C	127611395	T	C	127611395	2	2	77	1	0	0	0	0	0	0	0	1	4895	1432	50	3		3	ECHDC1	6	127611395	Silent	SNP	T	TCGA-A4-8515-01A-11D-2396-08	37200009	127611395	43503672	20	5216											
RSPH3	83861	hgsc.bcm.edu	37	6	159401839	159401839	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr6:159401839C>T	ENST00000252655.1	-	6	1441	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	RSPH3_ENST00000367069.2_Missense_Mutation_p.D276N|RSPH3_ENST00000449822.1_Missense_Mutation_p.D180N|RSPH3_ENST00000297262.3_Missense_Mutation_p.D322N	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	418										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TAGCCACTATCCCTGAGGCTG	0.408																																																0													126	104	111					6																	159401839		2203	4300	6503	SO:0001583	missense	83861			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1252G>A	chr6.hg19:g.159401839C>T	ENSP00000252655:p.Asp418Asn		Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	hg19	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914542	0.52546	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.81	4.94	0.65067	.	0.362264	0.33938	N	0.004405	T	0.05502	0.0145	L	0.38175	1.15	0.38862	D	0.9565	P;B	0.36010	0.532;0.091	B;B	0.30943	0.122;0.065	T	0.28586	-1.0039	10	0.23302	T	0.38	-23.6685	12.7512	0.57310	0.0:0.9196:0.0:0.0804	.	322;418	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	N	276;180;418;322	ENSP00000356036:D276N;ENSP00000393195:D180N;ENSP00000252655:D418N;ENSP00000297262:D322N	ENSP00000252655:D418N	D	-	1	0	RSPH3	159321827	1.000000	0.71417	0.838000	0.33150	0.987000	0.75469	3.471000	0.53107	1.431000	0.47355	0.591000	0.81541	GAT		0.408	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		T	159401839	C	T	159401839	3	4	77	1	0	0	0	0	1	0	0	0	13711	855	30	2	442	2	RSPH3	6	159401839	Missense_Mutation	SNP	C	TCGA-A4-8515-01A-11D-2396-08	31790444	159401839	11713228	21	5217											
C7orf26	79034	hgsc.bcm.edu	37	7	6639468	6639468	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr7:6639468A>T	ENST00000344417.5	+	4	856	c.589A>T	c.(589-591)Att>Ttt	p.I197F	C7orf26_ENST00000359073.5_Missense_Mutation_p.I178F|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	197										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGATGACCTCATTCCACCTAT	0.498																																																0													172	159	164					7																	6639468		2203	4300	6503	SO:0001583	missense	79034			BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.589A>T	chr7.hg19:g.6639468A>T	ENSP00000340220:p.Ile197Phe		Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	hg19	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	A	8.056	0.767095	0.15983	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	T;T	0.42900	0.96;0.96	5.08	3.89	0.44902	.	0.136974	0.64402	D	0.000003	T	0.28764	0.0713	L	0.43152	1.355	0.40382	D	0.979454	B;B	0.32160	0.358;0.358	B;B	0.30495	0.116;0.116	T	0.06789	-1.0807	10	0.17369	T	0.5	-23.9783	5.9553	0.19269	0.7464:0.1654:0.0882:0.0	.	178;197	Q96N11-2;Q96N11	.;CG026_HUMAN	F	197;178	ENSP00000340220:I197F;ENSP00000351974:I178F	ENSP00000340220:I197F	I	+	1	0	C7orf26	6605993	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.865000	0.62998	0.995000	0.38917	0.454000	0.30748	ATT		0.498	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		T	6639468	A	T	6639468	3	4	77	1	0	0	0	0	1	0	0	0	2383	217	8	5	603	5	C7orf26	7	6639468	Missense_Mutation	SNP	A	TCGA-A4-8515-01A-11D-2396-08		6639468	152499195	22	5218											
HERPUD2	64224	hgsc.bcm.edu	37	7	35707133	35707133	+	Silent	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr7:35707133A>G	ENST00000396081.1	-	4	1209	c.405T>C	c.(403-405)ggT>ggC	p.G135G	HERPUD2_ENST00000311350.3_Silent_p.G135G|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	135	Ser-rich.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CTGAGGAAGAACCCACAGCTA	0.398																																																0													143	130	134					7																	35707133		2203	4300	6503	SO:0001819	synonymous_variant	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.405T>C	chr7.hg19:g.35707133A>G			A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	hg19	CCDS5446.1																																																																																				0.398	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		G	35707133	A	G	35707133	2	3	77	1	0	0	0	0	0	0	0	1	7066	30	2	3		3	HERPUD2	7	35707133	Silent	SNP	A	TCGA-A4-8515-01A-11D-2396-08	29067665	35707133	123431530	23	5219											
EPHB4	2050	hgsc.bcm.edu	37	7	100404084	100404104	+	In_Frame_Del	DEL	CATCACCTCCCACATCACAAT	CATCACCTCCCACATCACAAT	-	rs199910843		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	CATCACCTCCCACATCACAAT	CATCACCTCCCACATCACAAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr7:100404084_100404104delCATCACCTCCCACATCACAAT	ENST00000358173.3	-	14	2890_2910	c.2422_2442delATTGTGATGTGGGAGGTGATG	c.(2422-2442)attgtgatgtgggaggtgatgdel	p.IVMWEVM808del	EPHB4_ENST00000360620.3_In_Frame_Del_p.IVMWEVM808del	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCCAAATGACATCACCTCCCACATCACAATCCCGTAACTC	0.552																																					GBM(200;2113 3072 25865 52728)											0																																										SO:0001651	inframe_deletion	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2422_2442delATTGTGATGTGGGAGGTGATG	chr7.hg19:g.100404084_100404104delCATCACCTCCCACATCACAAT	ENSP00000350896:p.Ile808_Met814del		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	In_Frame_Del	DEL	ENST00000358173.3	hg19	CCDS5706.1																																																																																				0.552	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		-	100404104	CATCACCTCCCACATCACAAT	-	100404084	7	5	77	1	0	1	0	1	0	0	0	0	5179	478	17	0	537	0	EPHB4	7	100404084	In_Frame_Del	DEL	CATCACCTCCCACATCACAAT	TCGA-A4-8515-01A-11D-2396-08	64696951	100404084	58734579	24	5220											
RUSC2	9853	hgsc.bcm.edu	37	9	35560975	35560975	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr9:35560975G>A	ENST00000455600.1	+	11	4799	c.4230G>A	c.(4228-4230)ctG>ctA	p.L1410L	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1410						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CGGACTGGCTGAGCCTGGACA	0.662																																																0													33	39	37					9																	35560975		2203	4300	6503	SO:0001819	synonymous_variant	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.4230G>A	chr9.hg19:g.35560975G>A			A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	hg19	CCDS35008.1																																																																																				0.662	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		A	35560975	G	A	35560975	2	1	77	1	0	0	0	0	0	0	0	1	13757	1277	45	2		2	RUSC2	9	35560975	Silent	SNP	G	TCGA-A4-8515-01A-11D-2396-08		35560975	105652456	25	5221											
TRIM14	9830	hgsc.bcm.edu	37	9	100862406	100862406	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr9:100862406delA	ENST00000341469.2	-	3	353	c.344delT	c.(343-345)ttcfs	p.F115fs	TRIM14_ENST00000342043.3_Frame_Shift_Del_p.F115fs|TRIM14_ENST00000375098.3_Frame_Shift_Del_p.F115fs	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	115					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GAGTTCAGTGAATTTCCCCTT	0.433																																					Colon(14;460 597 13826 51781)											0													113	105	108					9																	100862406		2203	4300	6503	SO:0001589	frameshift_variant	9830			AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"Tripartite motif containing / Tripartite motif containing"	16283	protein-coding gene	gene with protein product		606556	"tripartite motif-containing 14"			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.344delT	chr9.hg19:g.100862406delA	ENSP00000344208:p.Phe115fs		A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Frame_Shift_Del	DEL	ENST00000341469.2	hg19	CCDS6734.1																																																																																				0.433	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		-	100862406	A	-	100862406	7	5	77	1	0	1	0	1	0	0	0	0	16494	246	9	0	1000	0	TRIM14	9	100862406	Frame_Shift_Del	DEL	A	TCGA-A4-8515-01A-11D-2396-08	65301431	100862406	40351025	26	5222											
GAPVD1	26130	hgsc.bcm.edu	37	9	128117063	128117063	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr9:128117063G>A	ENST00000495955.1	+	24	4044	c.3754G>A	c.(3754-3756)Gtc>Atc	p.V1252I	GAPVD1_ENST00000297933.6_Missense_Mutation_p.V1234I|GAPVD1_ENST00000394105.2_Missense_Mutation_p.V1261I|GAPVD1_ENST00000394083.2_Missense_Mutation_p.V1186I|GAPVD1_ENST00000312123.9_Missense_Mutation_p.V1213I|GAPVD1_ENST00000394104.2_Missense_Mutation_p.V1252I|GAPVD1_ENST00000265956.4_Missense_Mutation_p.V1226I|GAPVD1_ENST00000470056.1_Missense_Mutation_p.V1207I			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1252					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTTTACCACTGTCTGTGTGAG	0.423																																																0													176	176	176					9																	128117063		2203	4300	6503	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3754G>A	chr9.hg19:g.128117063G>A	ENSP00000419063:p.Val1252Ile		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	hg19		.	.	.	.	.	.	.	.	.	.	G	27.7	4.856083	0.91355	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	L	0.47716	1.5	0.80722	D	1	P;P;P;P;P;P	0.39404	0.542;0.604;0.672;0.672;0.672;0.528	B;B;B;B;B;B	0.42282	0.213;0.205;0.382;0.382;0.382;0.382	T	0.62124	-0.6920	9	0.48119	T	0.1	.	19.6603	0.95864	0.0:0.0:1.0:0.0	.	1252;267;1207;1213;1234;1261	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	I	1207;1261;1252;1226;1186;1252;1234;1213	.	ENSP00000265956:V1226I	V	+	1	0	GAPVD1	127156884	1.000000	0.71417	0.981000	0.43875	0.965000	0.64279	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	GTC		0.423	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			A	128117063	G	A	128117063	3	1	77	1	0	0	0	0	1	0	0	0	6241	1377	48	2	3867	2	GAPVD1	9	128117063	Missense_Mutation	SNP	G	TCGA-A4-8515-01A-11D-2396-08	27254657	128117063	13096368	27	5223											
ARRDC1	92714	hgsc.bcm.edu	37	9	140508526	140508526	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr9:140508526C>A	ENST00000371421.4	+	5	542	c.478C>A	c.(478-480)Ctg>Atg	p.L160M	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	160						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CTCCTACAAGCTGGTGAAGAC	0.637																																																0													99	95	96					9																	140508526		2203	4300	6503	SO:0001583	missense	92714			AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"alpha-arrestin 1"					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.478C>A	chr9.hg19:g.140508526C>A	ENSP00000360475:p.Leu160Met			Missense_Mutation	SNP	ENST00000371421.4	hg19	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	c	19.88	3.909911	0.72983	.	.	ENSG00000197070	ENST00000371421;ENST00000431925	T;T	0.53206	3.16;0.63	5.47	4.38	0.52667	Immunoglobulin E-set (1);	0.141252	0.49305	D	0.000154	T	0.67411	0.2890	M	0.76838	2.35	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.66756	-0.5843	10	0.36615	T	0.2	-7.9494	14.2819	0.66219	0.0:0.9154:0.0:0.0846	.	49;177;160	Q59FD7;Q5T371;Q8N5I2	.;.;ARRD1_HUMAN	M	160;177	ENSP00000360475:L160M;ENSP00000406247:L177M	ENSP00000360475:L160M	L	+	1	2	ARRDC1	139628347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.922000	0.40045	2.582000	0.87167	0.555000	0.69702	CTG		0.637	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		A	140508526	C	A	140508526	3	1	77	1	0	0	0	0	1	0	0	0	982	796	28	4	496	4	ARRDC1	9	140508526	Missense_Mutation	SNP	C	TCGA-A4-8515-01A-11D-2396-08	12391463	140508526	704905	28	5224											
FNBP4	23360	hgsc.bcm.edu	37	11	47745663	47745663	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:47745663G>T	ENST00000263773.5	-	14	2393	c.2381C>A	c.(2380-2382)aCa>aAa	p.T794K	Y_RNA_ENST00000363220.1_RNA	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	794			T -> A (in dbSNP:rs35040940).			nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCTAATTTCTGTAGCTTTCCT	0.428																																																0													132	133	133					11																	47745663		1886	4120	6006	SO:0001583	missense	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2381C>A	chr11.hg19:g.47745663G>T	ENSP00000263773:p.Thr794Lys		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	hg19	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707845	0.48412	.	.	ENSG00000109920	ENST00000263773	T	0.50277	0.75	5.28	5.28	0.74379	.	0.468912	0.23563	N	0.046835	T	0.42337	0.1198	L	0.53249	1.67	0.28016	N	0.934697	B	0.31125	0.309	B	0.25140	0.058	T	0.47749	-0.9093	10	0.56958	D	0.05	-4.17	12.4896	0.55893	0.0803:0.0:0.9197:0.0	.	794	Q8N3X1	FNBP4_HUMAN	K	794	ENSP00000263773:T794K	ENSP00000263773:T794K	T	-	2	0	FNBP4	47702239	0.027000	0.19231	1.000000	0.80357	0.870000	0.49936	2.261000	0.43276	2.483000	0.83821	0.561000	0.74099	ACA		0.428	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			T	47745663	G	T	47745663	3	4	77	1	0	0	0	0	1	0	0	0	5969	1377	48	4	688	4	FNBP4	11	47745663	Missense_Mutation	SNP	G	TCGA-A4-8515-01A-11D-2396-08		47745663	87260853	29	5225	50	2									
FNBP4	23360	hgsc.bcm.edu	37	11	47745665	47745665	+	Silent	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:47745665A>G	ENST00000263773.5	-	14	2391	c.2379T>C	c.(2377-2379)gcT>gcC	p.A793A	Y_RNA_ENST00000363220.1_RNA	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	793						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TAATTTCTGTAGCTTTCCTCT	0.428																																																0													131	132	132					11																	47745665		1883	4121	6004	SO:0001819	synonymous_variant	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2379T>C	chr11.hg19:g.47745665A>G			Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	hg19	CCDS41644.1																																																																																				0.428	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			G	47745665	A	G	47745665	2	3	77	1	0	0	0	0	0	0	0	1	5969	407	15	3		3	FNBP4	11	47745665	Silent	SNP	A	TCGA-A4-8515-01A-11D-2396-08	2	47745665	87260851	30	5226	50	2									
PTPRJ	5795	hgsc.bcm.edu	37	11	48142761	48142761	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:48142761A>G	ENST00000418331.2	+	4	911	c.559A>G	c.(559-561)Act>Gct	p.T187A	PTPRJ_ENST00000440289.2_Missense_Mutation_p.T187A	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	187	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATTCTCCATCACTCCAGGAAT	0.428																																																0													129	120	123					11																	48142761		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.559A>G	chr11.hg19:g.48142761A>G	ENSP00000400010:p.Thr187Ala		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	hg19	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.875810	0.33162	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000534219	T;T;T	0.76448	0.49;0.49;-1.02	5.05	0.487	0.16842	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70649	0.3248	L	0.44542	1.39	0.09310	N	1	B;P	0.36086	0.131;0.536	B;B	0.43623	0.068;0.425	T	0.57033	-0.7880	9	0.15066	T	0.55	.	8.4715	0.32988	0.4929:0.0:0.0:0.507	.	187;187	Q12913;Q6P4H4	PTPRJ_HUMAN;.	A	187;187;187;108	ENSP00000400010:T187A;ENSP00000409733:T187A;ENSP00000432686:T108A	ENSP00000278456:T187A	T	+	1	0	PTPRJ	48099337	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.045000	0.14013	0.206000	0.20587	0.482000	0.46254	ACT		0.428	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			G	48142761	A	G	48142761	3	3	77	1	0	0	0	0	1	0	0	0	12810	159	6	3	573	3	PTPRJ	11	48142761	Missense_Mutation	SNP	A	TCGA-A4-8515-01A-11D-2396-08	397096	48142761	86863755	31	5227											
NCAM1	4684	hgsc.bcm.edu	37	11	113103986	113103986	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:113103986G>T	ENST00000533760.1	+	12	1855	c.1256G>T	c.(1255-1257)tGg>tTg	p.W419L	NCAM1_ENST00000316851.7_Missense_Mutation_p.W537L|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.W546L	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	547	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AAAGCTGAGTGGAGAGCAGTT	0.532																																																0													78	81	80					11																	113103986		2079	4205	6284	SO:0001583	missense	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1256G>T	chr11.hg19:g.113103986G>T	ENSP00000473281:p.Trp419Leu		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	hg19		.	.	.	.	.	.	.	.	.	.	G	28.8	4.953276	0.92660	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.56103	0.48;0.48	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.75459	0.3852	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.73808	-0.3866	9	0.49607	T	0.09	-34.0768	20.6208	0.99490	0.0:0.0:1.0:0.0	.	547;537;547;537	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	L	419;546;537	ENSP00000384055:W546L;ENSP00000318472:W537L	ENSP00000318472:W537L	W	+	2	0	NCAM1	112609196	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	TGG		0.532	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		T	113103986	G	T	113103986	3	4	77	1	0	0	0	0	1	0	0	0	10204	1357	47	4	1691	4	NCAM1	11	113103986	Missense_Mutation	SNP	G	TCGA-A4-8515-01A-11D-2396-08	64961225	113103986	21902530	32	5228											
PUS3	83480	hgsc.bcm.edu	37	11	125765906	125765922	+	Frame_Shift_Del	DEL	TCTCTTCAATGGTATTA	TCTCTTCAATGGTATTA	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	TCTCTTCAATGGTATTA	TCTCTTCAATGGTATTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr11:125765906_125765922delTCTCTTCAATGGTATTA	ENST00000530811.1	-	1	303_319	c.258_274delTAATACCATTGAAGAGA	c.(256-276)aataataccattgaagagaaafs	p.NNTIEE86fs	PUS3_ENST00000227474.3_Frame_Shift_Del_p.NNTIEE86fs|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000425380.2_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	86					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TCAAACAGTTTCTCTTCAATGGTATTATTTGTGTTTT	0.447																																																0																																										SO:0001589	frameshift_variant	83480			BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.258_274delTAATACCATTGAAGAGA	chr11.hg19:g.125765906_125765922delTCTCTTCAATGGTATTA	ENSP00000432386:p.Asn86fs		B2RAM0|Q96D17|Q96J23|Q96NB4	Frame_Shift_Del	DEL	ENST00000530811.1	hg19	CCDS8466.1																																																																																				0.447	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		-	125765922	TCTCTTCAATGGTATTA	-	125765906	7	5	77	1	0	1	0	1	0	0	0	0	12838	1792	62	0	1183	0	PUS3	11	125765906	Frame_Shift_Del	DEL	TCTCTTCAATGGTATTA	TCGA-A4-8515-01A-11D-2396-08	12661920	125765906	9240610	33	5229											
LAG3	3902	hgsc.bcm.edu	37	12	6886460	6886460	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr12:6886460C>G	ENST00000203629.2	+	6	1421	c.1088C>G	c.(1087-1089)tCc>tGc	p.S363C		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	363	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCACCTGGATCCCTGGGGAAG	0.517																																																0													112	111	111					12																	6886460		2203	4300	6503	SO:0001583	missense	3902				CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1088C>G	chr12.hg19:g.6886460C>G	ENSP00000203629:p.Ser363Cys		A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	hg19	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658513	0.47467	.	.	ENSG00000089692	ENST00000203629	T	0.15603	2.41	4.55	1.61	0.23674	.	0.653989	0.15030	N	0.284515	T	0.18509	0.0444	L	0.27053	0.805	0.19300	N	0.999976	D	0.71674	0.998	P	0.57371	0.819	T	0.10800	-1.0614	10	0.36615	T	0.2	-8.8465	6.2866	0.21037	0.2301:0.4544:0.3155:0.0	.	363	P18627	LAG3_HUMAN	C	363	ENSP00000203629:S363C	ENSP00000203629:S363C	S	+	2	0	LAG3	6756721	0.507000	0.26146	0.578000	0.28575	0.907000	0.53573	0.505000	0.22642	0.136000	0.18733	0.561000	0.74099	TCC		0.517	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			G	6886460	C	G	6886460	3	3	77	1	0	0	0	0	1	0	0	0	8602	855	30	4	1110	4	LAG3	12	6886460	Missense_Mutation	SNP	C	TCGA-A4-8515-01A-11D-2396-08		6886460	126965435	34	5230											
PRB4	5545	hgsc.bcm.edu	37	12	11461501	11461501	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr12:11461501C>A	ENST00000535904.1	-	3	449	c.416G>T	c.(415-417)gGa>gTa	p.G139V	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000279575.1_Missense_Mutation_p.G139V			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	160	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCTGGCTTTCCTGGAGGAGG	0.602										HNSCC(22;0.051)																																						0													176	197	190					12																	11461501		2202	4300	6502	SO:0001583	missense	5545				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.416G>T	chr12.hg19:g.11461501C>A	ENSP00000442834:p.Gly139Val		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	hg19	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	5.316	0.243693	0.10077	.	.	ENSG00000230657	ENST00000279575;ENST00000535904	T;T	0.08546	3.08;3.08	0.849	0.849	0.18972	.	.	.	.	.	T	0.22437	0.0541	M	0.78456	2.415	0.09310	N	0.999999	D	0.89917	1.0	D	0.66979	0.948	T	0.05178	-1.0901	9	0.87932	D	0	.	5.0427	0.14467	0.0:1.0:0.0:0.0	.	139	E9PAL0	.	V	139	ENSP00000279575:G139V;ENSP00000442834:G139V	ENSP00000279575:G139V	G	-	2	0	PRB4	11352768	0.002000	0.14202	0.003000	0.11579	0.004000	0.04260	0.087000	0.14958	0.744000	0.32741	0.502000	0.49764	GGA		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		A	11461501	C	A	11461501	3	1	77	1	0	0	0	0	1	0	0	0	12450	855	30	4	331	4	PRB4	12	11461501	Missense_Mutation	SNP	C	TCGA-A4-8515-01A-11D-2396-08	4575041	11461501	122390394	35	5231											
TMTC2	160335	hgsc.bcm.edu	37	12	83290130	83290130	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr12:83290130G>A	ENST00000321196.3	+	3	1895	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	TMTC2_ENST00000548305.1_Silent_p.L396L|TMTC2_ENST00000549919.1_Silent_p.L390L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	396					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTGTTGTTCTGTCTTTATCTT	0.393																																																0													191	193	192					12																	83290130		2203	4300	6503	SO:0001819	synonymous_variant	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1188G>A	chr12.hg19:g.83290130G>A			B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	hg19	CCDS9025.1																																																																																				0.393	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		A	83290130	G	A	83290130	2	1	77	1	0	0	0	0	0	0	0	1	16266	1364	48	2		2	TMTC2	12	83290130	Silent	SNP	G	TCGA-A4-8515-01A-11D-2396-08	71828629	83290130	50561765	36	5232											
BTG1	694	hgsc.bcm.edu	37	12	92537939	92537939	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr12:92537939T>C	ENST00000256015.3	-	2	794	c.433A>G	c.(433-435)Agc>Ggc	p.S145G	C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000551843.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	145					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CTGATTCGGCTGTCTACCATT	0.473			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	0													109	92	98					12																	92537939		2203	4300	6503	SO:0001583	missense	694				CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.433A>G	chr12.hg19:g.92537939T>C	ENSP00000256015:p.Ser145Gly	1291	P31607	Missense_Mutation	SNP	ENST00000256015.3	hg19	CCDS9043.1	.	.	.	.	.	.	.	.	.	.	T	6.001	0.368520	0.11352	.	.	ENSG00000133639	ENST00000256015;ENST00000552315	T;T	0.34275	1.79;1.37	5.8	5.8	0.92144	.	0.037276	0.85682	D	0.000000	T	0.31734	0.0806	L	0.36672	1.1	0.80722	D	1	B	0.12630	0.006	B	0.15484	0.013	T	0.04203	-1.0969	10	0.33141	T	0.24	-7.3735	16.1508	0.81622	0.0:0.0:0.0:1.0	.	145	P62324	BTG1_HUMAN	G	145;70	ENSP00000256015:S145G;ENSP00000447551:S70G	ENSP00000256015:S145G	S	-	1	0	BTG1	91062070	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.649000	0.83500	2.207000	0.71202	0.528000	0.53228	AGC		0.473	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			C	92537939	T	C	92537939	3	2	77	1	0	0	0	0	1	0	0	0	1555	1580	55	3	86	3	BTG1	12	92537939	Missense_Mutation	SNP	T	TCGA-A4-8515-01A-11D-2396-08	9247809	92537939	41313956	37	5233											
TMCC3	57458	hgsc.bcm.edu	37	12	94976205	94976205	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr12:94976205T>A	ENST00000261226.4	-	2	319	c.188A>T	c.(187-189)aAg>aTg	p.K63M	TMCC3_ENST00000551457.1_Missense_Mutation_p.K32M	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	63						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GAGTTTGACCTTGTGGAAGTC	0.483																																																0													150	147	148					12																	94976205		2203	4300	6503	SO:0001583	missense	57458			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.188A>T	chr12.hg19:g.94976205T>A	ENSP00000261226:p.Lys63Met		Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	hg19	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457648	0.63401	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T	0.51574	1.34;0.7	5.91	5.91	0.95273	.	0.099394	0.64402	D	0.000002	T	0.67211	0.2869	M	0.61703	1.905	0.46203	D	0.998924	D	0.89917	1.0	D	0.91635	0.999	T	0.69555	-0.5114	10	0.72032	D	0.01	-45.39	16.3889	0.83525	0.0:0.0:0.0:1.0	.	63	Q9ULS5	TMCC3_HUMAN	M	63;32;32	ENSP00000261226:K63M;ENSP00000449888:K32M	ENSP00000261226:K63M	K	-	2	0	TMCC3	93500336	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	0.917000	0.28665	2.276000	0.75962	0.397000	0.26171	AAG		0.483	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		A	94976205	T	A	94976205	3	1	77	1	0	0	0	0	1	0	0	0	15999	1609	56	5	1257	5	TMCC3	12	94976205	Missense_Mutation	SNP	T	TCGA-A4-8515-01A-11D-2396-08	2438266	94976205	38875690	38	5234											
ABCC4	10257	hgsc.bcm.edu	37	13	95886864	95886865	+	Splice_Site	DNP	CT	CT	AG			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr13:95886864_95886865CT>AG	ENST00000376887.4	-	4	644_645	c.530_531AG>CT	c.(529-531)aAG>aCT	p.K177T	ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000431522.1_Splice_Site_p.K177T|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Splice_Site_p.K177T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	177	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGTCACTTACCTTCCGATAAAT	0.391																																																0																																										SO:0001630	splice_region_variant	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.530_531delinsAG	chr13.hg19:g.95886864_95886865delinsAG			A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	hg19	CCDS9474.1																																																																																				0.391	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	Missense_Mutation	AG	95886865	CT	AG	95886864	5	1	77	1	0	0	0	0	0	0	1	0	55	695	24	4	3607	4	ABCC4	13	95886864	Splice_Site	DNP	CT	TCGA-A4-8515-01A-11D-2396-08		95886864	19283014	39	5235											
DENND4A	10260	hgsc.bcm.edu	37	15	66031104	66031104	+	Silent	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr15:66031104A>G	ENST00000431932.2	-	6	949	c.741T>C	c.(739-741)aaT>aaC	p.N247N	DENND4A_ENST00000443035.3_Silent_p.N247N	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	247	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGTATTTGCTATTTGATGGCC	0.363																																																0													117	113	114					15																	66031104		1819	4084	5903	SO:0001819	synonymous_variant	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.741T>C	chr15.hg19:g.66031104A>G			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	hg19	CCDS45285.1																																																																																				0.363	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		G	66031104	A	G	66031104	2	3	77	1	0	0	0	0	0	0	0	1	4435	446	16	3		3	DENND4A	15	66031104	Silent	SNP	A	TCGA-A4-8515-01A-11D-2396-08		66031104	36500288	40	5236											
SENP8	123228	hgsc.bcm.edu	37	15	72432229	72432229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr15:72432229delG	ENST00000542035.2	+	2	598	c.265delG	c.(265-267)gccfs	p.A89fs	SENP8_ENST00000544171.1_Frame_Shift_Del_p.A89fs|RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000340912.4_Frame_Shift_Del_p.A89fs|SENP8_ENST00000544411.1_Frame_Shift_Del_p.A89fs	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	89	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						TGTATTTTTAGCCATCAATGA	0.448																																																0													100	99	99					15																	72432229		2199	4297	6496	SO:0001589	frameshift_variant	123228			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.265delG	chr15.hg19:g.72432229delG	ENSP00000446057:p.Ala89fs		Q96QA4	Frame_Shift_Del	DEL	ENST00000542035.2	hg19	CCDS10240.1																																																																																				0.448	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204		-	72432229	G	-	72432229	7	5	77	1	0	1	0	1	0	0	0	0	14058	971	34	0	267	0	SENP8	15	72432229	Frame_Shift_Del	DEL	G	TCGA-A4-8515-01A-11D-2396-08	6401125	72432229	30099163	41	5237											
C15orf59	388135	hgsc.bcm.edu	37	15	74032301	74032301	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr15:74032301A>T	ENST00000569673.1	-	3	2043	c.839T>A	c.(838-840)cTg>cAg	p.L280Q	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.L280Q			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	280										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTGTAGGGCAGAACCGTCTG	0.572																																																0													92	99	97					15																	74032301		2198	4297	6495	SO:0001583	missense	388135				CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.839T>A	chr15.hg19:g.74032301A>T	ENSP00000457205:p.Leu280Gln			Missense_Mutation	SNP	ENST00000569673.1	hg19	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207083	0.79127	.	.	ENSG00000205363	ENST00000379822	T	0.57907	0.37	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000003	T	0.67933	0.2946	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71434	-0.4594	10	0.87932	D	0	.	14.5288	0.67909	1.0:0.0:0.0:0.0	.	280	Q2T9L4	CO059_HUMAN	Q	280	ENSP00000369150:L280Q	ENSP00000369150:L280Q	L	-	2	0	C15orf59	71819354	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.572000	0.90756	1.906000	0.55180	0.459000	0.35465	CTG		0.572	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		T	74032301	A	T	74032301	3	4	77	1	0	0	0	0	1	0	0	0	1809	188	7	5	46	5	C15orf59	15	74032301	Missense_Mutation	SNP	A	TCGA-A4-8515-01A-11D-2396-08	1600072	74032301	28499091	42	5238											
ACSM1	116285	hgsc.bcm.edu	37	16	20682868	20682868	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr16:20682868G>T	ENST00000307493.4	-	4	804	c.737C>A	c.(736-738)cCc>cAc	p.P246H	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.P246H	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	246					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGGGAAGGAGGGTTGTAAGGC	0.527																																																0													99	83	89					16																	20682868		2201	4300	6501	SO:0001583	missense	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.737C>A	chr16.hg19:g.20682868G>T	ENSP00000301956:p.Pro246His		Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	hg19	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	G	2.027	-0.423437	0.04734	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.47177	0.85;0.85	4.95	1.81	0.25067	AMP-dependent synthetase/ligase (1);	1.028510	0.07746	N	0.947678	T	0.28300	0.0699	N	0.12471	0.22	0.09310	N	0.999995	B	0.06786	0.001	B	0.08055	0.003	T	0.22556	-1.0213	10	0.45353	T	0.12	.	5.2282	0.15406	0.0815:0.1431:0.6274:0.148	.	246	Q08AH1	ACSM1_HUMAN	H	246	ENSP00000301956:P246H;ENSP00000428047:P246H	ENSP00000301956:P246H	P	-	2	0	ACSM1	20590369	0.351000	0.24887	0.000000	0.03702	0.001000	0.01503	3.098000	0.50259	0.238000	0.21222	0.603000	0.83216	CCC		0.527	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		T	20682868	G	T	20682868	3	4	77	1	0	0	0	0	1	0	0	0	182	1232	43	4	1036	4	ACSM1	16	20682868	Missense_Mutation	SNP	G	TCGA-A4-8515-01A-11D-2396-08		20682868	69671885	43	5239											
AP1G1	164	hgsc.bcm.edu	37	16	71768532	71768533	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr16:71768532_71768533insA	ENST00000299980.4	-	22	2787_2788	c.2346_2347insT	c.(2344-2349)attaaafs	p.K783fs	AP1G1_ENST00000564155.1_Frame_Shift_Ins_p.K208fs|AP1G1_ENST00000393512.3_Frame_Shift_Ins_p.K786fs|AP1G1_ENST00000569748.1_Frame_Shift_Ins_p.K783fs|AP1G1_ENST00000423132.2_Frame_Shift_Ins_p.K786fs|AP1G1_ENST00000433195.2_Frame_Shift_Ins_p.K806fs	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	783	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TTCAGAACTTTAATGACTTGTG	0.45																																																0																																										SO:0001589	frameshift_variant	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2347dupT	chr16.hg19:g.71768534_71768534dupA	ENSP00000299980:p.Lys783fs		O75709|O75842|Q9UG09|Q9Y3U4	Frame_Shift_Ins	INS	ENST00000299980.4	hg19	CCDS32480.1																																																																																				0.45	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			A	71768533	-	A	71768532	7	5	77	1	0	1	1	0	0	0	0	0	732	1763	61	0	129	0	AP1G1	16	71768532	Frame_Shift_Ins	INS	-	TCGA-A4-8515-01A-11D-2396-08	51085664	71768532	18586221	44	5240											
WDR81	124997	hgsc.bcm.edu	37	17	1633711	1633711	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:1633711G>A	ENST00000409644.1	+	2	3705	c.3705G>A	c.(3703-3705)aaG>aaA	p.K1235K	WDR81_ENST00000437219.2_Silent_p.K32K|WDR81_ENST00000419248.1_Silent_p.K8K|WDR81_ENST00000309182.5_Silent_p.K184K|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000545662.1_5'Flank|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1235					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGTCTGCCAAGCTCGGCCCCA	0.642																																																0													33	31	32					17																	1633711		2203	4299	6502	SO:0001819	synonymous_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3705G>A	chr17.hg19:g.1633711G>A			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	hg19	CCDS54062.1																																																																																				0.642	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		A	1633711	G	A	1633711	2	1	77	1	0	0	0	0	0	0	0	1	17335	962	34	2		2	WDR81	17	1633711	Silent	SNP	G	TCGA-A4-8515-01A-11D-2396-08		1633711	79561499	45	5241											
ZZEF1	23140	hgsc.bcm.edu	37	17	3924472	3924472	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:3924472delT	ENST00000381638.2	-	45	7479	c.7355delA	c.(7354-7356)aagfs	p.K2452fs		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2452							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGGGTCCAGCTTTTTCTGCTC	0.582																																																0													113	109	110					17																	3924472		2203	4300	6503	SO:0001589	frameshift_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7355delA	chr17.hg19:g.3924472delT	ENSP00000371051:p.Lys2452fs		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Frame_Shift_Del	DEL	ENST00000381638.2	hg19	CCDS11043.1																																																																																				0.582	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		-	3924472	T	-	3924472	7	5	77	1	0	1	0	1	0	0	0	0	18260	1609	56	0	1574	0	ZZEF1	17	3924472	Frame_Shift_Del	DEL	T	TCGA-A4-8515-01A-11D-2396-08	2290761	3924472	77270738	46	5242											
MYBBP1A	10514	hgsc.bcm.edu	37	17	4445915	4445915	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:4445915T>C	ENST00000254718.4	-	21	3320	c.3014A>G	c.(3013-3015)cAc>cGc	p.H1005R	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.H1005R			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1005					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACTCACCGGGTGCCGGGAGAA	0.627																																																0													99	98	98					17																	4445915		2203	4300	6503	SO:0001583	missense	10514			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3014A>G	chr17.hg19:g.4445915T>C	ENSP00000254718:p.His1005Arg		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	hg19	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527626	0.64860	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.19532	2.14;2.14	5.53	4.44	0.53790	Armadillo-type fold (1);	0.481948	0.24846	N	0.035136	T	0.23965	0.0580	L	0.54323	1.7	0.25888	N	0.9835	P;P	0.47106	0.824;0.89	B;P	0.46796	0.327;0.527	T	0.07309	-1.0779	10	0.26408	T	0.33	-19.5303	8.7411	0.34558	0.1687:0.0:0.0:0.8313	.	1005;1005	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	R	1005	ENSP00000370968:H1005R;ENSP00000254718:H1005R	ENSP00000254718:H1005R	H	-	2	0	MYBBP1A	4392664	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	3.604000	0.54081	0.910000	0.36722	0.533000	0.62120	CAC		0.627	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		C	4445915	T	C	4445915	3	2	77	1	0	0	0	0	1	0	0	0	10010	1696	59	3	1036	3	MYBBP1A	17	4445915	Missense_Mutation	SNP	T	TCGA-A4-8515-01A-11D-2396-08	521443	4445915	76749295	47	5243											
ALOX15B	247	hgsc.bcm.edu	37	17	7948982	7948982	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:7948982C>T	ENST00000380183.4	+	8	1317	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	ALOX15B_ENST00000573359.1_Missense_Mutation_p.P393L|ALOX15B_ENST00000380173.2_Missense_Mutation_p.P393L|ALOX15B_ENST00000572022.1_Missense_Mutation_p.P393L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	393	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				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						CGTCAGCTGCCCCACTGCCAC	0.612																																																0													66	51	56					17																	7948982		2203	4300	6503	SO:0001583	missense	247			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.1178C>T	chr17.hg19:g.7948982C>T	ENSP00000369530:p.Pro393Leu		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	hg19	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929812	0.92389	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.91521	-2.86;-2.86	4.53	4.53	0.55603	Lipoxygenase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.96062	0.8717	M	0.89658	3.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97047	0.9761	10	0.87932	D	0	-23.6176	16.3899	0.83531	0.0:1.0:0.0:0.0	.	393;393;393;393	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	L	393	ENSP00000369520:P393L;ENSP00000369530:P393L	ENSP00000344337:P393L	P	+	2	0	ALOX15B	7889707	1.000000	0.71417	0.989000	0.46669	0.971000	0.66376	7.516000	0.81772	2.225000	0.72522	0.563000	0.77884	CCC		0.612	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			T	7948982	C	T	7948982	3	4	77	1	0	0	0	0	1	0	0	0	539	623	22	2	1208	2	ALOX15B	17	7948982	Missense_Mutation	SNP	C	TCGA-A4-8515-01A-11D-2396-08	3503067	7948982	73246228	48	5244											
MYH2	4620	hgsc.bcm.edu	37	17	10433386	10433386	+	Silent	SNP	G	G	A			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:10433386G>A	ENST00000245503.5	-	23	3087	c.2703C>T	c.(2701-2703)gcC>gcT	p.A901A	MYH2_ENST00000397183.2_Silent_p.A901A|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	901					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						CCAAGCCTTCGGCTTCCTTAA	0.398																																																0													124	121	122					17																	10433386		2203	4300	6503	SO:0001819	synonymous_variant	4620				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.2703C>T	chr17.hg19:g.10433386G>A			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	hg19	CCDS11156.1																																																																																				0.398	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10433386	G	A	10433386	2	1	77	1	0	0	0	0	0	0	0	1	10037	1103	39	1		1	MYH2	17	10433386	Silent	SNP	G	TCGA-A4-8515-01A-11D-2396-08	2484404	10433386	70761824	49	5245											
TRIM37	4591	hgsc.bcm.edu	37	17	57078973	57078974	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr17:57078973_57078974delTG	ENST00000262294.7	-	23	3056_3057	c.2797_2798delCA	c.(2797-2799)cagfs	p.Q933fs	TRIM37_ENST00000393065.2_Frame_Shift_Del_p.Q899fs|TRIM37_ENST00000376149.3_Intron|TRIM37_ENST00000393066.3_Frame_Shift_Del_p.Q933fs	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	933					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATCCGGGGGCTGTGTCATGACC	0.485									Mulibrey Nanism																																							0																																										SO:0001589	frameshift_variant	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2797_2798delCA	chr17.hg19:g.57078975_57078976delTG	ENSP00000262294:p.Gln933fs		Q7Z3E6|Q8IYF7|Q8WYF7	Frame_Shift_Del	DEL	ENST00000262294.7	hg19	CCDS32694.1																																																																																				0.485	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		-	57078974	TG	-	57078973	7	5	77	1	0	1	0	1	0	0	0	0	16516	1580	55	0	112	0	TRIM37	17	57078973	Frame_Shift_Del	DEL	TG	TCGA-A4-8515-01A-11D-2396-08	46645587	57078973	24116237	50	5246											
EPB41L3	23136	hgsc.bcm.edu	37	18	5406855	5406855	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr18:5406855T>C	ENST00000341928.2	-	16	2610	c.2270A>G	c.(2269-2271)aAg>aGg	p.K757R	EPB41L3_ENST00000427684.2_Missense_Mutation_p.K29R|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K576R|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K588R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.K29R|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K576R|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K757R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	757	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGAAAGCCTCTTCTCCCATTC	0.512																																																0													179	143	155					18																	5406855		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2270A>G	chr18.hg19:g.5406855T>C	ENSP00000343158:p.Lys757Arg		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	hg19	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245271	0.80024	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.89875	-2.12;-2.58;-1.59;-1.5;-2.12;-2.37	5.78	5.78	0.91487	SAB (1);	0.043558	0.85682	D	0.000000	D	0.93360	0.7883	M	0.62266	1.93	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	0.99;0.999;0.999;0.977;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.979;0.996;0.996;0.98;0.995;0.97;0.999;0.998	D	0.93204	0.6594	10	0.48119	T	0.1	.	16.1138	0.81283	0.0:0.0:0.0:1.0	.	588;29;29;149;467;576;757;29	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	R	757;467;588;467;29;29;757;576	ENSP00000343158:K757R;ENSP00000441174:K588R;ENSP00000392195:K29R;ENSP00000442233:K29R;ENSP00000341138:K757R;ENSP00000382981:K576R	ENSP00000343158:K757R	K	-	2	0	EPB41L3	5396855	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	7.698000	0.84413	2.220000	0.72140	0.533000	0.62120	AAG		0.512	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		C	5406855	T	C	5406855	3	2	77	1	0	0	0	0	1	0	0	0	5156	1609	56	3	1021	3	EPB41L3	18	5406855	Missense_Mutation	SNP	T	TCGA-A4-8515-01A-11D-2396-08		5406855	72670393	51	5247											
DSC2	1824	hgsc.bcm.edu	37	18	28660278	28660278	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr18:28660278A>C	ENST00000280904.6	-	10	1747	c.1304T>G	c.(1303-1305)aTt>aGt	p.I435S	DSC2_ENST00000251081.6_Missense_Mutation_p.I435S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	435	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AACTACACCAATTTGCAAGAT	0.378																																																0													159	138	145					18																	28660278		2203	4300	6503	SO:0001583	missense	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1304T>G	chr18.hg19:g.28660278A>C	ENSP00000280904:p.Ile435Ser			Missense_Mutation	SNP	ENST00000280904.6	hg19	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006051	0.54361	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.48836	0.8;0.8	5.92	5.92	0.95590	Cadherin (5);Cadherin-like (1);	0.000000	0.32884	N	0.005536	T	0.78997	0.4372	H	0.97491	4.015	0.54753	D	0.999989	D;D	0.69078	0.997;0.996	D;D	0.65443	0.934;0.935	D	0.86616	0.1876	10	0.87932	D	0	.	15.3456	0.74334	1.0:0.0:0.0:0.0	.	435;435	Q02487;Q02487-2	DSC2_HUMAN;.	S	435;435;201;448	ENSP00000251081:I435S;ENSP00000280904:I435S	ENSP00000251081:I435S	I	-	2	0	DSC2	26914276	1.000000	0.71417	0.226000	0.23910	0.115000	0.19883	7.733000	0.84916	2.266000	0.75297	0.533000	0.62120	ATT		0.378	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		C	28660278	A	C	28660278	3	2	77	1	0	0	0	0	1	0	0	0	4768	101	4	5	1469	5	DSC2	18	28660278	Missense_Mutation	SNP	A	TCGA-A4-8515-01A-11D-2396-08	23253423	28660278	49416970	52	5248											
ICAM5	7087	hgsc.bcm.edu	37	19	10403449	10403449	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr19:10403449A>G	ENST00000221980.4	+	5	1186	c.1123A>G	c.(1123-1125)Aac>Gac	p.N375D		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	375	Ig-like C2-type 4.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGCCACCGAGAACGACGACAG	0.622																																																0													52	54	53					19																	10403449		2203	4300	6503	SO:0001583	missense	7087			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1123A>G	chr19.hg19:g.10403449A>G	ENSP00000221980:p.Asn375Asp		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	hg19	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	A	7.911	0.736583	0.15574	.	.	ENSG00000105376	ENST00000221980	T	0.05382	3.45	5.46	-10.9	0.00192	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.463300	0.03856	N	0.273164	T	0.02230	0.0069	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34354	-0.9832	10	0.16420	T	0.52	-0.0897	4.6077	0.12385	0.1132:0.1885:0.5112:0.1871	.	375	Q9UMF0	ICAM5_HUMAN	D	375	ENSP00000221980:N375D	ENSP00000221980:N375D	N	+	1	0	ICAM5	10264449	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.105000	0.03323	-3.113000	0.00241	-0.441000	0.05720	AAC		0.622	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		G	10403449	A	G	10403449	3	3	77	1	0	0	0	0	1	0	0	0	7485	246	9	3	1141	3	ICAM5	19	10403449	Missense_Mutation	SNP	A	TCGA-A4-8515-01A-11D-2396-08		10403449	48725534	53	5249											
ROMO1	140823	hgsc.bcm.edu	37	20	34288799	34288799	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr20:34288799A>G	ENST00000374078.1	+	3	391	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	NFS1_ENST00000540053.1_5'Flank|ROMO1_ENST00000397416.1_Missense_Mutation_p.M71V|NFS1_ENST00000306750.3_5'Flank|ROMO1_ENST00000374072.1_3'UTR|NFS1_ENST00000541387.1_5'Flank|NFS1_ENST00000374092.4_5'Flank|ROMO1_ENST00000336695.4_Missense_Mutation_p.M71V|NFS1_ENST00000374085.1_5'Flank|NFS1_ENST00000397425.1_5'Flank|ROMO1_ENST00000374077.3_Missense_Mutation_p.M71V	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	71					cellular response to reactive oxygen species (GO:0034614)|defense response to bacterium (GO:0042742)|positive regulation of cell proliferation (GO:0008284)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|replicative cell aging (GO:0001302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				cervix(1)	1						TGGCACATTCATGGCCATTGG	0.517																																																0													124	86	99					20																	34288799		2203	4300	6503	SO:0001583	missense	140823			AK000548	CCDS13264.1	20q11.22	2008-09-30	2008-09-30	2008-09-30	ENSG00000125995	ENSG00000125995			16185	protein-coding gene	gene with protein product	"mitochondrial targeting GXXXG protein"		"chromosome 20 open reading frame 52"	C20orf52		18313394, 17537404, 16842742	Standard	NM_080748		Approved	bA353C18.2, MTGMP	uc002xdy.3	P60602	OTTHUMG00000032360	ENST00000374078.1:c.211A>G	chr20.hg19:g.34288799A>G	ENSP00000363191:p.Met71Val		A7M872|E1P5R9|E9KL28|Q3MHD5|Q5QP16|Q9CQ98|Q9H1N2	Missense_Mutation	SNP	ENST00000374078.1	hg19	CCDS13264.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442280	0.63067	.	.	ENSG00000125995	ENST00000374078;ENST00000374077;ENST00000397416;ENST00000336695	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	4.68	4.68	0.58851	.	0.039506	0.85682	D	0.000000	T	0.48059	0.1479	.	.	.	0.80722	D	1	B	0.25351	0.124	B	0.25506	0.061	T	0.52124	-0.8617	9	0.87932	D	0	.	14.3539	0.66722	1.0:0.0:0.0:0.0	.	71	P60602	ROMO1_HUMAN	V	71	ENSP00000363191:M71V;ENSP00000363190:M71V;ENSP00000380561:M71V;ENSP00000338293:M71V	ENSP00000338293:M71V	M	+	1	0	ROMO1	33752213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.080000	0.94040	1.982000	0.57802	0.529000	0.55759	ATG		0.517	ROMO1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000126404.1	NM_080748		G	34288799	A	G	34288799	3	3	77	1	0	0	0	0	1	0	0	0	13528	217	8	3	217	3	ROMO1	20	34288799	Missense_Mutation	SNP	A	TCGA-A4-8515-01A-11D-2396-08		34288799	28736721	54	5250											
SON	6651	hgsc.bcm.edu	37	21	34948684	34948684	+	Missense_Mutation	SNP	G	G	A	rs397829693|rs34377180		TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chr21:34948684G>A	ENST00000356577.4	+	12	7710	c.7235G>A	c.(7234-7236)gGa>gAa	p.G2412E	DONSON_ENST00000303113.6_Intron|SON_ENST00000290239.6_3'UTR|AP000304.1_ENST00000595468.1_5'Flank|SON_ENST00000381692.2_Missense_Mutation_p.G440E|SON_ENST00000470533.1_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2412	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTGAGAAATGGAGCCCTTACC	0.338																																																0													55	55	55					21																	34948684		2201	4295	6496	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.7235G>A	chr21.hg19:g.34948684G>A	ENSP00000348984:p.Gly2412Glu		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	hg19	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434360	0.43224	.	.	ENSG00000159140	ENST00000356577;ENST00000381692	T;T	0.69306	-0.39;-0.39	5.42	5.42	0.78866	Double-stranded RNA-binding-like (1);	0.000000	0.51477	D	0.000097	T	0.71134	0.3304	M	0.69823	2.125	0.80722	D	1	D;P	0.59767	0.986;0.799	P;B	0.50970	0.655;0.435	T	0.75127	-0.3427	10	0.87932	D	0	.	9.3335	0.38036	0.0788:0.1457:0.7755:0.0	.	440;2412	Q6ZRV7;P18583	.;SON_HUMAN	E	2412;440	ENSP00000348984:G2412E;ENSP00000371111:G440E	ENSP00000348984:G2412E	G	+	2	0	SON	33870554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.898000	0.48672	2.560000	0.86352	0.555000	0.69702	GGA		0.338	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		A	34948684	G	A	34948684	3	1	77	1	0	0	0	0	1	0	0	0	14932	1174	41	2	7540	2	SON	21	34948684	Missense_Mutation	SNP	G	TCGA-A4-8515-01A-11D-2396-08		34948684	13181211	55	5251											
FAM48B1	100130302	hgsc.bcm.edu	37	X	24381817	24381817	+	IGR	SNP	G	G	T			TCGA-A4-8515-01A-11D-2396-08	TCGA-A4-8515-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0d3ff544-d2cb-4e64-8f22-6ff73447d5d8	af2ca6b1-94ef-4660-8a55-522a8022d5b2	g.chrX:24381817G>T								AC004552.1 (14794 upstream) : PDK3 (101520 downstream)																							ACTTGCTAAAGGGTATCAGTC	0.537																																																0													141	117	125					X																	24381817		1568	3578	5146	SO:0001628	intergenic_variant	100130302																															chrX.hg19:g.24381817G>T				Missense_Mutation	SNP		hg19																																																																																				0	0.537									T	24381817	G	T	24381817	1	4	77	0	1	0	0	0	0	0	0	0	5575	1000	35	4		4	FAM48B1	23	24381817	IGR	SNP	G	TCGA-A4-8515-01A-11D-2396-08		24381817	130888743	56	5252											
SDC3	9672	hgsc.bcm.edu	37	1	31347253	31347253	+	Silent	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:31347253G>T	ENST00000339394.6	-	4	1227	c.1053C>A	c.(1051-1053)ccC>ccA	p.P351P	SDC3_ENST00000336798.7_Silent_p.P293P|SDC3_ENST00000471567.1_5'Flank	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	351					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCACCCTTGGGCAGTGTCC	0.632																																																0													76	83	81					1																	31347253		2203	4300	6503	SO:0001819	synonymous_variant	9672			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.1053C>A	chr1.hg19:g.31347253G>T			Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Silent	SNP	ENST00000339394.6	hg19	CCDS30661.1																																																																																				0.632	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		T	31347253	G	T	31347253	2	4	78	1	0	0	0	0	0	0	0	1	13959	1335	47	4		4	SDC3	1	31347253	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08		31347253	217903368	1	5253											
PPIE	10450	hgsc.bcm.edu	37	1	40211152	40211152	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:40211152G>A	ENST00000324379.5	+	7	509	c.490G>A	c.(490-492)Gtc>Atc	p.V164I	PPIE_ENST00000372830.1_Missense_Mutation_p.V164I|PPIE_ENST00000470213.1_Intron|PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000356511.2_Missense_Mutation_p.V164I	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	164	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCGTTCTGATGTCGTGCCCAT	0.572																																																0													67	55	59					1																	40211152		2203	4300	6503	SO:0001583	missense	10450			AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"RNA binding motif (RRM) containing"	9258	protein-coding gene	gene with protein product	"peptidyl-prolyl cis-trans isomerase E", "cyclophilin 33", "cyclophilin E", "PPIase E", "rotamase E", "peptidylprolyl isomerase E, isoform 1"	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.490G>A	chr1.hg19:g.40211152G>A	ENSP00000312769:p.Val164Ile		B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Missense_Mutation	SNP	ENST00000324379.5	hg19	CCDS443.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839855	0.32513	.	.	ENSG00000084072	ENST00000324379;ENST00000356511;ENST00000497370;ENST00000372835;ENST00000372830	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.0	0.793	0.18632	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.135859	0.50627	D	0.000102	T	0.11750	0.0286	N	0.20357	0.565	0.47862	D	0.999531	B;B;B;B	0.17667	0.001;0.023;0.001;0.001	B;B;B;B	0.21917	0.01;0.037;0.005;0.009	T	0.13710	-1.0499	10	0.28530	T	0.3	-14.2927	8.5189	0.33264	0.4795:0.0:0.5205:0.0	.	85;164;164;164	B4E3F2;Q5TGA3;Q9UNP9-2;Q9UNP9	.;.;.;PPIE_HUMAN	I	164;164;98;113;164	ENSP00000312769:V164I;ENSP00000348904:V164I;ENSP00000433475:V98I;ENSP00000361925:V113I;ENSP00000361918:V164I	ENSP00000312769:V164I	V	+	1	0	PPIE	39983739	0.996000	0.38824	0.443000	0.26883	0.786000	0.44442	2.773000	0.47686	0.320000	0.23234	-0.251000	0.11542	GTC		0.572	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2	NM_006112		A	40211152	G	A	40211152	3	1	78	1	0	0	0	0	1	0	0	0	12327	1377	48	2	516	2	PPIE	1	40211152	Missense_Mutation	SNP	G	TCGA-A4-8517-01A-11D-2396-08	8863899	40211152	209039469	2	5254											
CAP1	5538	hgsc.bcm.edu	37	1	40536545	40536545	+	IGR	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:40536545C>T	ENST00000433473.3	-	0	2740				CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372797.3_Missense_Mutation_p.T413I|CAP1_ENST00000372798.1_Missense_Mutation_p.T412I|CAP1_ENST00000340450.3_Missense_Mutation_p.T412I|PPT1_ENST00000372775.2_5'Flank|CAP1_ENST00000372805.3_Missense_Mutation_p.T413I|CAP1_ENST00000372792.2_Missense_Mutation_p.T413I|CAP1_ENST00000372802.1_Missense_Mutation_p.T412I	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAACAAAACAGATGGCTGC	0.463																																																0													138	126	130					1																	40536545		1891	4123	6014	SO:0001628	intergenic_variant	10487			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		chr1.hg19:g.40536545C>T			B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	hg19	CCDS447.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618558	0.87460	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805	T;T;T;T;T;T	0.10382	2.89;2.88;2.89;2.88;2.88;2.89	5.55	5.55	0.83447	CARP motif (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.989	T	0.04467	-1.0949	10	0.56958	D	0.05	-5.8536	18.6642	0.91483	0.0:1.0:0.0:0.0	.	360;413	E7ENY9;Q01518	.;CAP1_HUMAN	I	413;412;413;390;412;412;413	ENSP00000361883:T413I;ENSP00000361888:T412I;ENSP00000361878:T413I;ENSP00000361884:T412I;ENSP00000344832:T412I;ENSP00000361891:T413I	ENSP00000344832:T412I	T	+	2	0	CAP1	40309132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.511000	0.81718	2.890000	0.99128	0.585000	0.79938	ACA		0.463	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		T	40536545	C	T	40536545	1	4	78	0	1	0	0	0	0	0	0	0	2621	478	17	2		2	CAP1	1	40536545	IGR	SNP	C	TCGA-A4-8517-01A-11D-2396-08	325393	40536545	208714076	3	5255											
ZNF642	339559	hgsc.bcm.edu	37	1	40961061	40961061	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:40961061G>T	ENST00000372706.1	+	6	1917	c.911G>T	c.(910-912)tGt>tTt	p.C304F	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.C304F			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGTAAGGAATGTGGAAGGGCC	0.388																																																0													60	58	59					1																	40961061		2203	4300	6503	SO:0001583	missense	339559			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.911G>T	chr1.hg19:g.40961061G>T	ENSP00000361791:p.Cys304Phe		Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	hg19	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804872	0.70682	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	D;D	0.85861	-2.04;-2.04	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000241	D	0.95326	0.8483	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96405	0.9300	10	0.87932	D	0	-9.3418	16.1533	0.81636	0.0:0.0:1.0:0.0	.	304	Q49AA0	ZN642_HUMAN	F	304	ENSP00000361791:C304F;ENSP00000361790:C304F	ENSP00000361790:C304F	C	+	2	0	ZNF642	40733648	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	TGT		0.388	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		T	40961061	G	T	40961061	3	4	78	1	0	0	0	0	1	0	0	0	18063	1377	48	4	929	4	ZNF642	1	40961061	Missense_Mutation	SNP	G	TCGA-A4-8517-01A-11D-2396-08	424516	40961061	208289560	4	5256											
NRD1	114883	hgsc.bcm.edu	37	1	52256297	52256297	+	IGR	SNP	C	C	A	rs147279713		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:52256297C>A	ENST00000428468.1	+	0	2893				NRD1_ENST00000354831.7_Nonsense_Mutation_p.E1094*|NRD1_ENST00000539524.1_Nonsense_Mutation_p.E962*|NRD1_ENST00000352171.7_Nonsense_Mutation_p.E1026*|NRD1_ENST00000485608.1_5'UTR			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCCTCACACTCCTTCAGCTTG	0.527																																																0													151	113	126					1																	52256297		2203	4300	6503	SO:0001628	intergenic_variant	4898			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234		chr1.hg19:g.52256297C>A			B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Nonsense_Mutation	SNP	ENST00000428468.1	hg19	CCDS41332.3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.320771|6.320771	0.97471|0.97471	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169|ENST00000440943	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.050156|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75598	.|0.3871	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72590	.|-0.4247	.|4	0.02654|.	T|.	1|.	-15.9931|-15.9931	19.6556|19.6556	0.95837|0.95837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	1026;1094;962;428;1026|412	.|.	ENSP00000262679:E1026X|.	E|G	-|-	1|2	0|0	NRD1|NRD1	52028885|52028885	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.287000|7.287000	0.78681|0.78681	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.527	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			A	52256297	C	A	52256297	1	1	78	0	1	0	0	0	0	0	0	0	10647	864	30	4		4	NRD1	1	52256297	IGR	SNP	C	TCGA-A4-8517-01A-11D-2396-08	11295236	52256297	196994324	5	5257											
PRMT6	55170	hgsc.bcm.edu	37	1	107600260	107600260	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:107600260delC	ENST00000370078.1	+	1	960	c.923delC	c.(922-924)tccfs	p.S308fs	PRMT6_ENST00000361318.5_Frame_Shift_Del_p.S249fs			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	308	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTGGTGCTGTCCACCTCGCCT	0.607																																																0													44	48	47					1																	107600260		1973	4160	6133	SO:0001589	frameshift_variant	55170			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"Protein arginine methyltransferases"	18241	protein-coding gene	gene with protein product		608274	"HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.923delC	chr1.hg19:g.107600260delC	ENSP00000359095:p.Ser308fs		A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Frame_Shift_Del	DEL	ENST00000370078.1	hg19	CCDS41360.2																																																																																				0.607	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		-	107600260	C	-	107600260	7	5	78	1	0	1	0	1	0	0	0	0	12545	855	30	0	925	0	PRMT6	1	107600260	Frame_Shift_Del	DEL	C	TCGA-A4-8517-01A-11D-2396-08	55343963	107600260	141650361	6	5258											
AHCYL1	10768	hgsc.bcm.edu	37	1	110561173	110561173	+	Splice_Site	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:110561173G>A	ENST00000369799.5	+	13	1585		c.e13-1		AHCYL1_ENST00000393614.4_Splice_Site|AHCYL1_ENST00000359172.3_Splice_Site	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1						mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTTCCTTTCAGACCAGCCTCC	0.498																																																0													77	62	67					1																	110561173		2203	4300	6503	SO:0001630	splice_region_variant	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1219-1G>A	chr1.hg19:g.110561173G>A			B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Splice_Site	SNP	ENST00000369799.5	hg19	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444478	0.83993	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2323	0.93845	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AHCYL1	110362696	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.541000	0.85698	0.655000	0.94253	.		0.498	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1		Intron	A	110561173	G	A	110561173	5	1	78	1	0	0	0	0	0	0	1	0	410	956	33	2	1268	2	AHCYL1	1	110561173	Splice_Site	SNP	G	TCGA-A4-8517-01A-11D-2396-08	2960913	110561173	138689448	7	5259											
POLR3C	10623	hgsc.bcm.edu	37	1	145592731	145592731	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:145592731delG	ENST00000334163.3	-	15	1724	c.1564delC	c.(1564-1566)ctgfs	p.L523fs	POLR3C_ENST00000369294.1_3'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	523					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GACTCCAGCAGGAAGATGGTT	0.438																																																0													124	107	113					1																	145592731		2203	4300	6503	SO:0001589	frameshift_variant	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1564delC	chr1.hg19:g.145592731delG	ENSP00000334564:p.Leu523fs		O15317|Q9Y3R6	Frame_Shift_Del	DEL	ENST00000334163.3	hg19	CCDS921.1																																																																																				0.438	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		-	145592731	G	-	145592731	7	5	78	1	0	1	0	1	0	0	0	0	12232	991	35	0	44	0	POLR3C	1	145592731	Frame_Shift_Del	DEL	G	TCGA-A4-8517-01A-11D-2396-08	35031558	145592731	103657890	8	5260											
COPA	1314	hgsc.bcm.edu	37	1	160305059	160305059	+	Silent	SNP	A	A	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr1:160305059A>G	ENST00000241704.7	-	4	511	c.282T>C	c.(280-282)gaT>gaC	p.D94D	COPA_ENST00000368069.3_Silent_p.D94D	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	94					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCGAATATAATCTAAGTGCC	0.388																																																0													65	58	61					1																	160305059		2203	4300	6503	SO:0001819	synonymous_variant	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.282T>C	chr1.hg19:g.160305059A>G			Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	hg19	CCDS1202.1																																																																																				0.388	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		G	160305059	A	G	160305059	2	3	78	1	0	0	0	0	0	0	0	1	3729	98	4	3		3	COPA	1	160305059	Silent	SNP	A	TCGA-A4-8517-01A-11D-2396-08	14712328	160305059	88945562	9	5261											
ASAP2	8853	hgsc.bcm.edu	37	2	9515054	9515054	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:9515054T>C	ENST00000281419.3	+	17	2067	c.1727T>C	c.(1726-1728)aTc>aCc	p.I576T	ASAP2_ENST00000315273.4_Missense_Mutation_p.I576T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	576					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACGGAAAAAATCCCACTGGCC	0.473																																																0													86	87	86					2																	9515054		2203	4300	6503	SO:0001583	missense	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1727T>C	chr2.hg19:g.9515054T>C	ENSP00000281419:p.Ile576Thr		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	hg19	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279137	0.80692	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.66099	-0.19;-0.19	5.4	5.4	0.78164	Ankyrin repeat-containing domain (1);	0.146210	0.64402	D	0.000013	T	0.73401	0.3582	L	0.47716	1.5	0.80722	D	1	D;D	0.65815	0.986;0.995	P;D	0.77004	0.904;0.989	T	0.74074	-0.3782	10	0.48119	T	0.1	.	15.4253	0.75045	0.0:0.0:0.0:1.0	.	576;576	O43150-2;O43150	.;ASAP2_HUMAN	T	576	ENSP00000281419:I576T;ENSP00000316404:I576T	ENSP00000281419:I576T	I	+	2	0	ASAP2	9432505	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.691000	0.84191	2.039000	0.60335	0.533000	0.62120	ATC		0.473	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		C	9515054	T	C	9515054	3	2	78	1	0	0	0	0	1	0	0	0	1011	1435	50	3	1793	3	ASAP2	2	9515054	Missense_Mutation	SNP	T	TCGA-A4-8517-01A-11D-2396-08		9515054	233684319	10	5262											
TCF23	150921	hgsc.bcm.edu	37	2	27373231	27373231	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:27373231A>T	ENST00000296096.5	+	2	593	c.463A>T	c.(463-465)Aag>Tag	p.K155*		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	155					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCCTCTCAAGGTAAGTCA	0.622																																																0													100	109	106					2																	27373231		2203	4300	6503	SO:0001587	stop_gained	150921			AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.463A>T	chr2.hg19:g.27373231A>T	ENSP00000296096:p.Lys155*		B2RNZ3	Nonsense_Mutation	SNP	ENST00000296096.5	hg19	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	A	37	6.018528	0.97205	.	.	ENSG00000163792	ENST00000296096	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.5975	13.8444	0.63459	1.0:0.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000296096:K155X	K	+	1	0	TCF23	27226735	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.489000	0.90461	2.164000	0.68074	0.459000	0.35465	AAG		0.622	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		T	27373231	A	T	27373231	4	4	78	1	0	0	0	0	0	1	0	0	15697	131	5	5	469	5	TCF23	2	27373231	Nonsense_Mutation	SNP	A	TCGA-A4-8517-01A-11D-2396-08	17858177	27373231	215826142	11	5263											
SPTBN1	6711	hgsc.bcm.edu	37	2	54852000	54852000	+	Silent	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:54852000C>T	ENST00000356805.4	+	11	1523	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	SPTBN1_ENST00000333896.5_Silent_p.L401L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	414					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAATGAGCTCATAAGACAGG	0.493																																																0													76	73	74					2																	54852000		2203	4300	6503	SO:0001819	synonymous_variant	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1242C>T	chr2.hg19:g.54852000C>T			B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	hg19	CCDS33198.1																																																																																				0.493	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54852000	C	T	54852000	2	4	78	1	0	0	0	0	0	0	0	1	15124	813	29	2		2	SPTBN1	2	54852000	Silent	SNP	C	TCGA-A4-8517-01A-11D-2396-08	27478769	54852000	188347373	12	5264											
RANBP2	5903	hgsc.bcm.edu	37	2	109380509	109380509	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:109380509T>G	ENST00000283195.6	+	20	3640	c.3514T>G	c.(3514-3516)Ttt>Gtt	p.F1172V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1172	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGGTCCTCACTTTGAGCCTGT	0.428																																																0													117	109	112					2																	109380509		2203	4299	6502	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3514T>G	chr2.hg19:g.109380509T>G	ENSP00000283195:p.Phe1172Val		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	hg19	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034233	0.54896	.	.	ENSG00000153201	ENST00000283195	T	0.39787	1.06	5.57	5.57	0.84162	Pleckstrin homology-type (1);Ran binding protein 1 (2);	.	.	.	.	T	0.64951	0.2645	M	0.74258	2.255	0.50039	D	0.999845	D	0.76494	0.999	D	0.79784	0.993	T	0.67684	-0.5607	9	0.54805	T	0.06	-23.4766	15.7401	0.77887	0.0:0.0:0.0:1.0	.	1172	P49792	RBP2_HUMAN	V	1172	ENSP00000283195:F1172V	ENSP00000283195:F1172V	F	+	1	0	RANBP2	108746941	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.040000	0.89188	2.107000	0.64212	0.528000	0.53228	TTT		0.428	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109380509	T	G	109380509	3	3	78	1	0	0	0	0	1	0	0	0	13034	1609	56	5	3592	5	RANBP2	2	109380509	Missense_Mutation	SNP	T	TCGA-A4-8517-01A-11D-2396-08	54528509	109380509	133818864	13	5265											
LRP1B	53353	hgsc.bcm.edu	37	2	141816463	141816463	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:141816463G>C	ENST00000389484.3	-	9	2368	c.1397C>G	c.(1396-1398)aCt>aGt	p.T466S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	466					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTGGTTGAGTTCTTTTTTG	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													83	82	82					2																	141816463		2201	4298	6499	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1397C>G	chr2.hg19:g.141816463G>C	ENSP00000374135:p.Thr466Ser		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	7.474	0.647368	0.14516	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97575	-4.44	5.45	2.69	0.31865	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.247105	0.32028	U	0.006685	D	0.93032	0.7782	L	0.33245	0.995	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	D	0.84920	0.0853	10	0.40728	T	0.16	.	9.4538	0.38743	0.2856:0.0:0.7144:0.0	.	466	Q9NZR2	LRP1B_HUMAN	S	466;404	ENSP00000374135:T466S	ENSP00000374135:T466S	T	-	2	0	LRP1B	141532933	0.582000	0.26749	0.952000	0.39060	0.309000	0.27889	1.212000	0.32394	0.287000	0.22375	0.462000	0.41574	ACT		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141816463	G	C	141816463	3	2	78	1	0	0	0	0	1	0	0	0	8957	1029	36	4	12734	4	LRP1B	2	141816463	Missense_Mutation	SNP	G	TCGA-A4-8517-01A-11D-2396-08	32435954	141816463	101382910	14	5266			1	12		2	2	14	N	G_A	3.317478e-05
LRP1B	53353	hgsc.bcm.edu	37	2	141816476	141816476	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:141816476A>T	ENST00000389484.3	-	9	2355	c.1384T>A	c.(1384-1386)Tat>Aat	p.Y462N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	462					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTTTTTGATAAATTCGGATT	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													82	82	82					2																	141816476		2201	4297	6498	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1384T>A	chr2.hg19:g.141816476A>T	ENSP00000374135:p.Tyr462Asn		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.345446	0.61073	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97404	-4.37	5.45	5.45	0.79879	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000004	D	0.98588	0.9528	M	0.89095	3.005	0.58432	D	0.999994	D	0.76494	0.999	D	0.83275	0.996	D	0.99589	1.0975	10	0.62326	D	0.03	.	15.5201	0.75859	1.0:0.0:0.0:0.0	.	462	Q9NZR2	LRP1B_HUMAN	N	462;400	ENSP00000374135:Y462N	ENSP00000374135:Y462N	Y	-	1	0	LRP1B	141532946	1.000000	0.71417	0.974000	0.42286	0.256000	0.26092	8.865000	0.92300	2.080000	0.62538	0.379000	0.24179	TAT		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141816476	A	T	141816476	3	4	78	1	0	0	0	0	1	0	0	0	8957	362	13	5	12747	5	LRP1B	2	141816476	Missense_Mutation	SNP	A	TCGA-A4-8517-01A-11D-2396-08	13	141816476	101382897	15	5267			1	12		2	2	14	N	G_A	3.317478e-05
FBXO36	130888	hgsc.bcm.edu	37	2	230861514	230861516	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr2:230861514_230861516delAAT	ENST00000283946.3	+	3	271_273	c.253_255delAAT	c.(253-255)aatdel	p.N85del	FBXO36_ENST00000373652.3_In_Frame_Del_p.N54del|FBXO36_ENST00000409992.1_Intron	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	85										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTATGTCATCAATTTGTGCAAAG	0.355																																																0																																										SO:0001651	inframe_deletion	130888			BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"F-boxes /  "other""	27020	protein-coding gene	gene with protein product		609105	"F-box only protein 36"			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.253_255delAAT	chr2.hg19:g.230861514_230861516delAAT	ENSP00000283946:p.Asn85del		B3KVQ6|Q53TE6|Q8WWD4	In_Frame_Del	DEL	ENST00000283946.3	hg19	CCDS2472.1																																																																																				0.355	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		-	230861516	AAT	-	230861514	7	5	78	1	0	1	0	1	0	0	0	0	5747	130	5	0	263	0	FBXO36	2	230861514	In_Frame_Del	DEL	AAT	TCGA-A4-8517-01A-11D-2396-08	89045038	230861514	12337859	16	5268											
HYAL2	8692	hgsc.bcm.edu	37	3	50357591	50357591	+	Silent	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:50357591C>T	ENST00000447092.1	-	1	2622	c.330G>A	c.(328-330)cgG>cgA	p.R110R	TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000357750.4_Silent_p.R110R|HYAL2_ENST00000395139.3_Silent_p.R110R|HYAL2_ENST00000442581.1_Silent_p.R110R			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	110					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCAGCATCTTCCGGTGTGCCC	0.597																																																0													79	71	74					3																	50357591		2203	4300	6503	SO:0001819	synonymous_variant	8692			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.330G>A	chr3.hg19:g.50357591C>T			B3KRZ2|O15177|Q9BW29	Silent	SNP	ENST00000447092.1	hg19	CCDS2818.1																																																																																				0.597	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		T	50357591	C	T	50357591	2	4	78	1	0	0	0	0	0	0	0	1	7466	842	30	2		2	HYAL2	3	50357591	Silent	SNP	C	TCGA-A4-8517-01A-11D-2396-08		50357591	147664839	17	5269											
CEP63	80254	hgsc.bcm.edu	37	3	134267996	134267996	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:134267996delA	ENST00000337090.3	+	10	1333	c.1160delA	c.(1159-1161)gaafs	p.E387fs	CEP63_ENST00000332047.5_Frame_Shift_Del_p.E341fs|CEP63_ENST00000513612.2_Frame_Shift_Del_p.E387fs|CEP63_ENST00000606977.1_Frame_Shift_Del_p.E387fs|CEP63_ENST00000354446.3_Frame_Shift_Del_p.E341fs|CEP63_ENST00000383229.3_Frame_Shift_Del_p.E387fs			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	387					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CATAACAATGAATACAAAGCA	0.373																																																0													98	89	92					3																	134267996		2203	4300	6503	SO:0001589	frameshift_variant	80254			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1160delA	chr3.hg19:g.134267996delA	ENSP00000336524:p.Glu387fs		D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Frame_Shift_Del	DEL	ENST00000337090.3	hg19	CCDS3086.1																																																																																				0.373	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		-	134267996	A	-	134267996	7	5	78	1	0	1	0	1	0	0	0	0	3259	246	9	0	1194	0	CEP63	3	134267996	Frame_Shift_Del	DEL	A	TCGA-A4-8517-01A-11D-2396-08	83910405	134267996	63754434	18	5270											
MFN1	55669	hgsc.bcm.edu	37	3	179076735	179076735	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:179076735A>C	ENST00000471841.1	+	4	482	c.356A>C	c.(355-357)gAt>gCt	p.D119A	MFN1_ENST00000263969.5_Missense_Mutation_p.D119A|MFN1_ENST00000280653.7_Missense_Mutation_p.D119A	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	119	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAAGGAACTGATGGAGATAAA	0.378																																																0													150	139	143					3																	179076735		2203	4300	6503	SO:0001583	missense	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.356A>C	chr3.hg19:g.179076735A>C	ENSP00000420617:p.Asp119Ala		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	hg19	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824508	0.71143	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	5.86	5.86	0.93980	Dynamin, GTPase domain (1);	0.045333	0.85682	D	0.000000	D	0.97932	0.9320	M	0.80508	2.5	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71656	0.974;0.964	D	0.97957	1.0335	10	0.42905	T	0.14	-26.3212	16.5602	0.84551	1.0:0.0:0.0:0.0	.	147;119	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	A	119	ENSP00000420617:D119A;ENSP00000280653:D119A;ENSP00000419134:D119A;ENSP00000263969:D119A	ENSP00000263969:D119A	D	+	2	0	MFN1	180559429	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	8.904000	0.92590	2.367000	0.80283	0.528000	0.53228	GAT		0.378	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		C	179076735	A	C	179076735	3	2	78	1	0	0	0	0	1	0	0	0	9525	333	12	5	366	5	MFN1	3	179076735	Missense_Mutation	SNP	A	TCGA-A4-8517-01A-11D-2396-08	44808739	179076735	18945695	19	5271											
USP13	8975	hgsc.bcm.edu	37	3	179426711	179426711	+	Silent	SNP	C	C	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:179426711C>A	ENST00000263966.3	+	6	1242	c.771C>A	c.(769-771)gcC>gcA	p.A257A	USP13_ENST00000496897.1_Silent_p.A192A|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	257					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			ACCCACTAGCCGTGAAACTGG	0.547																																																0													75	70	71					3																	179426711		2203	4300	6503	SO:0001819	synonymous_variant	8975			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.771C>A	chr3.hg19:g.179426711C>A			A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	hg19	CCDS3235.1																																																																																				0.547	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			A	179426711	C	A	179426711	2	1	78	1	0	0	0	0	0	0	0	1	17049	639	23	4		4	USP13	3	179426711	Silent	SNP	C	TCGA-A4-8517-01A-11D-2396-08	349976	179426711	18595719	20	5272											
CPN2	1370	hgsc.bcm.edu	37	3	194062198	194062198	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr3:194062198G>T	ENST00000323830.3	-	2	1323	c.1234C>A	c.(1234-1236)Cag>Aag	p.Q412K	CPN2_ENST00000429275.1_Missense_Mutation_p.Q412K	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	412	LRRCT.				protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TCGGTGTACTGCTGCAGCCAG	0.602																																																0													62	64	63					3																	194062198		2203	4300	6503	SO:0001583	missense	1370			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1234C>A	chr3.hg19:g.194062198G>T	ENSP00000319464:p.Gln412Lys		B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	hg19	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	2.132	-0.398880	0.04865	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.24151	1.87;1.87	5.56	1.46	0.22682	Cysteine-rich flanking region, C-terminal (1);	0.280456	0.19931	N	0.102851	T	0.10981	0.0268	N	0.25094	0.71	0.09310	N	1	B	0.21071	0.051	B	0.16722	0.016	T	0.32955	-0.9887	10	0.05436	T	0.98	.	4.2056	0.10486	0.0732:0.3827:0.2364:0.3077	.	412	P22792	CPN2_HUMAN	K	412	ENSP00000319464:Q412K;ENSP00000402232:Q412K	ENSP00000319464:Q412K	Q	-	1	0	CPN2	195543893	0.000000	0.05858	0.002000	0.10522	0.124000	0.20399	-0.469000	0.06648	0.787000	0.33731	-0.165000	0.13383	CAG		0.602	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		T	194062198	G	T	194062198	3	4	78	1	0	0	0	0	1	0	0	0	3812	1328	46	4	407	4	CPN2	3	194062198	Missense_Mutation	SNP	G	TCGA-A4-8517-01A-11D-2396-08	14635487	194062198	3960232	21	5273											
ODAM	54959	hgsc.bcm.edu	37	4	71064324	71064324	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr4:71064324T>A	ENST00000396094.2	+	5	452	c.404T>A	c.(403-405)aTg>aAg	p.M135K		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	135	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCCTTCAAAATGCCTCAAGAG	0.378																																																0													120	116	118					4																	71064324		2203	4300	6503	SO:0001583	missense	54959			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.404T>A	chr4.hg19:g.71064324T>A	ENSP00000379401:p.Met135Lys		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	hg19	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	T	13.87	2.366377	0.41902	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.48522	0.81;0.81	4.82	3.65	0.41850	.	0.949132	0.08736	N	0.901245	T	0.37972	0.1023	L	0.42245	1.32	0.22754	N	0.998773	P	0.38020	0.615	B	0.32805	0.153	T	0.30592	-0.9973	10	0.72032	D	0.01	-0.3936	7.1176	0.25424	0.0:0.101:0.0:0.899	.	135	A1E959	ODAM_HUMAN	K	135;121;88	ENSP00000379401:M135K;ENSP00000426106:M88K	ENSP00000379401:M135K	M	+	2	0	ODAM	71098913	0.773000	0.28580	0.893000	0.35052	0.676000	0.39594	0.800000	0.27042	0.987000	0.38709	0.374000	0.22700	ATG		0.378	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		A	71064324	T	A	71064324	3	1	78	1	0	0	0	0	1	0	0	0	10826	1464	51	5	422	5	ODAM	4	71064324	Missense_Mutation	SNP	T	TCGA-A4-8517-01A-11D-2396-08		71064324	120089952	22	5274											
SLC4A4	8671	hgsc.bcm.edu	37	4	72429564	72429564	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr4:72429564A>G	ENST00000264485.5	+	24	3271	c.3154A>G	c.(3154-3156)Atg>Gtg	p.M1052V	SLC4A4_ENST00000351898.6_Missense_Mutation_p.M968V|SLC4A4_ENST00000340595.3_Missense_Mutation_p.M1008V|SLC4A4_ENST00000425175.1_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1052					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.M1008V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AATGGACATCATGGAACAGCA	0.358																																																1	Substitution - Missense(1)	large_intestine(1)											152	158	156					4																	72429564		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.3154A>G	chr4.hg19:g.72429564A>G	ENSP00000264485:p.Met1052Val		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	hg19	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	7.750	0.703080	0.15172	.	.	ENSG00000080493	ENST00000264485;ENST00000351898;ENST00000340595	T;T;T	0.75154	-0.91;-0.58;-0.91	5.46	4.25	0.50352	.	0.037886	0.85682	D	0.000000	T	0.56572	0.1994	N	0.24115	0.695	0.80722	D	1	B;B;B	0.20164	0.012;0.042;0.025	B;B;B	0.21546	0.017;0.035;0.01	T	0.49643	-0.8918	10	0.02654	T	1	.	12.5178	0.56042	0.8603:0.1397:0.0:0.0	.	968;1008;1052	Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;S4A4_HUMAN	V	1052;968;1008	ENSP00000264485:M1052V;ENSP00000307349:M968V;ENSP00000344272:M1008V	ENSP00000264485:M1052V	M	+	1	0	SLC4A4	72648428	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.988000	0.76212	0.885000	0.36088	-0.619000	0.04042	ATG		0.358	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		G	72429564	A	G	72429564	3	3	78	1	0	0	0	0	1	0	0	0	14662	217	8	3	3365	3	SLC4A4	4	72429564	Missense_Mutation	SNP	A	TCGA-A4-8517-01A-11D-2396-08	1365240	72429564	118724712	23	5275											
SHROOM3	57619	hgsc.bcm.edu	37	4	77661360	77661360	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr4:77661360delG	ENST00000296043.6	+	5	2987	c.2034delG	c.(2032-2034)ctgfs	p.L678fs		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	678					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACAGCAGCCTGGAGCTAGGCC	0.602																																																0													46	58	54					4																	77661360		2203	4300	6503	SO:0001589	frameshift_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2034delG	chr4.hg19:g.77661360delG	ENSP00000296043:p.Leu678fs		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Frame_Shift_Del	DEL	ENST00000296043.6	hg19	CCDS3579.2																																																																																				0.602	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		-	77661360	G	-	77661360	7	5	78	1	0	1	0	1	0	0	0	0	14301	1335	47	0	2052	0	SHROOM3	4	77661360	Frame_Shift_Del	DEL	G	TCGA-A4-8517-01A-11D-2396-08	5231796	77661360	113492916	24	5276											
EXOSC9	5393	hgsc.bcm.edu	37	4	122724130	122724130	+	Silent	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr4:122724130G>A	ENST00000243498.5	+	4	450	c.342G>A	c.(340-342)aaG>aaA	p.K114K	EXOSC9_ENST00000512454.1_Silent_p.K98K|EXOSC9_ENST00000379663.3_Silent_p.K114K|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	114	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAAATTCGAAGTGTATAGACA	0.393																																																0													126	118	121					4																	122724130		2203	4300	6503	SO:0001819	synonymous_variant	5393			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.342G>A	chr4.hg19:g.122724130G>A			Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	ENST00000243498.5	hg19	CCDS3722.2																																																																																				0.393	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		A	122724130	G	A	122724130	2	1	78	1	0	0	0	0	0	0	0	1	5323	1020	36	2		2	EXOSC9	4	122724130	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08	45062770	122724130	68430146	25	5277											
BDP1	55814	hgsc.bcm.edu	37	5	70813231	70813231	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr5:70813231T>A	ENST00000358731.4	+	22	5206	c.4943T>A	c.(4942-4944)gTg>gAg	p.V1648E	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1648					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAAAGTCAGGTGGTTCTTGTA	0.308																																																0													70	70	70					5																	70813231		1812	4074	5886	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4943T>A	chr5.hg19:g.70813231T>A	ENSP00000351575:p.Val1648Glu		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	hg19	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	T	2.499	-0.315545	0.05422	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.11495	2.77	3.38	-3.81	0.04294	.	1.408380	0.05200	N	0.504767	T	0.08846	0.0219	L	0.54323	1.7	0.09310	N	0.999996	B;B	0.25955	0.037;0.138	B;B	0.18561	0.008;0.022	T	0.41662	-0.9496	10	0.56958	D	0.05	.	0.473	0.00535	0.1852:0.283:0.1887:0.3431	.	1648;1648	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	E	1648;1228	ENSP00000351575:V1648E	ENSP00000351575:V1648E	V	+	2	0	BDP1	70848987	0.000000	0.05858	0.004000	0.12327	0.069000	0.16628	-0.026000	0.12392	-0.363000	0.08101	0.383000	0.25322	GTG		0.308	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		A	70813231	T	A	70813231	3	1	78	1	0	0	0	0	1	0	0	0	1395	1696	59	5	5029	5	BDP1	5	70813231	Missense_Mutation	SNP	T	TCGA-A4-8517-01A-11D-2396-08		70813231	110102029	26	5278											
VCAN	1462	hgsc.bcm.edu	37	5	82836395	82836395	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr5:82836395A>T	ENST00000265077.3	+	8	8138	c.7573A>T	c.(7573-7575)Agg>Tgg	p.R2525W	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.R1538W|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2525	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGACCGTTTCAGGGAATTCGA	0.403																																																0													53	54	54					5																	82836395		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7573A>T	chr5.hg19:g.82836395A>T	ENSP00000265077:p.Arg2525Trp		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	10.51	1.370274	0.24771	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.34072	1.38;1.38	6.17	-11.7	0.00046	.	1.888030	0.01961	N	0.043346	T	0.17577	0.0422	N	0.16478	0.41	0.09310	N	1	B;B	0.12630	0.006;0.004	B;B	0.11329	0.006;0.003	T	0.16808	-1.0390	10	0.54805	T	0.06	.	4.6375	0.12531	0.2227:0.3575:0.3326:0.0872	.	1538;2525	P13611-2;P13611	.;CSPG2_HUMAN	W	2525;1538	ENSP00000265077:R2525W;ENSP00000340062:R1538W	ENSP00000265077:R2525W	R	+	1	2	VCAN	82872151	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-0.702000	0.05069	-2.549000	0.00480	0.533000	0.62120	AGG		0.403	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82836395	A	T	82836395	3	4	78	1	0	0	0	0	1	0	0	0	17143	179	7	5	7599	5	VCAN	5	82836395	Missense_Mutation	SNP	A	TCGA-A4-8517-01A-11D-2396-08	12023164	82836395	98078865	27	5279											
PCDHGA3	56112	hgsc.bcm.edu	37	5	140724920	140724920	+	Silent	SNP	G	G	T	rs567477411		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr5:140724920G>T	ENST00000253812.6	+	1	1320	c.1320G>T	c.(1318-1320)ctG>ctT	p.L440L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	440	Cadherin 4. {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(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCACCCTGCATGTGATTG	0.502																																																0													103	114	110					5																	140724920		2107	4256	6363	SO:0001819	synonymous_variant	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1320G>T	chr5.hg19:g.140724920G>T			Q9Y5D4	Silent	SNP	ENST00000253812.6	hg19	CCDS47290.1																																																																																				0.502	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140724920	G	T	140724920	2	4	78	1	0	0	0	0	0	0	0	1	11557	1306	46	4		4	PCDHGA3	5	140724920	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08	57888525	140724920	40190340	28	5280											
TNIP1	10318	hgsc.bcm.edu	37	5	150444534	150444534	+	Silent	SNP	C	C	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr5:150444534C>G	ENST00000389378.2	-	2	711	c.123G>C	c.(121-123)ggG>ggC	p.G41G	TNIP1_ENST00000522226.1_Silent_p.G41G|TNIP1_ENST00000315050.7_Silent_p.G41G|TNIP1_ENST00000518977.1_Silent_p.G41G|TNIP1_ENST00000523338.1_Silent_p.G41G|TNIP1_ENST00000524280.1_Silent_p.G41G|TNIP1_ENST00000523200.1_Silent_p.G41G|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000521591.1_Silent_p.G41G	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	41					defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATCTTTATCCCTTGCATTT	0.567																																																0													170	164	166					5																	150444534		2203	4300	6503	SO:0001819	synonymous_variant	10318			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.123G>C	chr5.hg19:g.150444534C>G			A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	ENST00000389378.2	hg19	CCDS34280.1																																																																																				0.567	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		G	150444534	C	G	150444534	2	3	78	1	0	0	0	0	0	0	0	1	16319	842	30	4		4	TNIP1	5	150444534	Silent	SNP	C	TCGA-A4-8517-01A-11D-2396-08	9719614	150444534	30470726	29	5281											
WWC1	23286	hgsc.bcm.edu	37	5	167833322	167833322	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr5:167833322A>C	ENST00000265293.4	+	6	1212	c.710A>C	c.(709-711)gAt>gCt	p.D237A	WWC1_ENST00000521089.1_Missense_Mutation_p.D237A	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	237					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAAAAGCAAGATCTCATTAAG	0.458																																																0													189	179	182					5																	167833322		2203	4300	6503	SO:0001583	missense	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.710A>C	chr5.hg19:g.167833322A>C	ENSP00000265293:p.Asp237Ala		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	hg19	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.503944|4.503944	0.85176|0.85176	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.07800|.	3.16;3.18|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.057843|.	0.64402|.	D|.	0.000002|.	T|T	0.75910|0.75910	0.3914|0.3914	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.60160|.	0.987;0.972;0.978;0.963|.	P;P;P;P|.	0.59012|.	0.85;0.737;0.796;0.63|.	T|T	0.77225|0.77225	-0.2666|-0.2666	10|5	0.52906|.	T|.	0.07|.	.|.	15.5264|15.5264	0.75910|0.75910	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	237;143;143;237|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	A|S	237|198;13	ENSP00000265293:D237A;ENSP00000427772:D237A|.	ENSP00000265293:D237A|.	D|R	+|+	2|3	0|2	WWC1|WWC1	167765900|167765900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.251000|9.251000	0.95483|0.95483	2.078000|2.078000	0.62432|0.62432	0.459000|0.459000	0.35465|0.35465	GAT|AGA		0.458	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		C	167833322	A	C	167833322	3	2	78	1	0	0	0	0	1	0	0	0	17416	333	12	5	732	5	WWC1	5	167833322	Missense_Mutation	SNP	A	TCGA-A4-8517-01A-11D-2396-08	17388788	167833322	13081938	30	5282											
DDR1	780	hgsc.bcm.edu	37	6	30865203	30865203	+	Missense_Mutation	SNP	C	C	A	rs541302814		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:30865203C>A	ENST00000324771.8	+	17	2593	c.2045C>A	c.(2044-2046)cCa>cAa	p.P682Q	DDR1_ENST00000454612.2_Missense_Mutation_p.P645Q|DDR1_ENST00000376570.4_Missense_Mutation_p.P645Q|DDR1_ENST00000361741.4_Missense_Mutation_p.P349Q|DDR1_ENST00000376575.3_Missense_Mutation_p.P688Q|DDR1_ENST00000418800.2_Missense_Mutation_p.P645Q|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Missense_Mutation_p.P682Q|DDR1_ENST00000376567.2_Missense_Mutation_p.P645Q|DDR1_ENST00000376569.3_Missense_Mutation_p.P645Q|DDR1_ENST00000513240.1_Missense_Mutation_p.P688Q|DDR1_ENST00000452441.1_Missense_Mutation_p.P682Q|DDR1_ENST00000508312.1_Missense_Mutation_p.P663Q			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTCAAGGACCCAAACATCATT	0.547																																																0													103	93	97					6																	30865203		2203	4300	6503	SO:0001583	missense	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2045C>A	chr6.hg19:g.30865203C>A	ENSP00000318217:p.Pro682Gln		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	hg19	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.933034|4.933034	0.92458|0.92458	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741|ENST00000484556	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91407|.	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84|.	5.39|5.39	5.39|5.39	0.77823|0.77823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.060949|.	0.64402|.	D|.	0.000003|.	T|T	0.65852|0.65852	0.2731|0.2731	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;P;D;D;D|.	0.89917|.	1.0;0.792;1.0;0.981;1.0|.	D;P;D;P;D|.	0.97110|.	0.999;0.643;0.999;0.888;1.0|.	T|T	0.64491|0.64491	-0.6395|-0.6395	10|5	0.56958|.	D|.	0.05|.	.|.	16.6419|16.6419	0.85128|0.85128	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	663;146;414;688;682|.	B7Z2K0;A2ABL4;A2ABM8;Q08345-5;Q08345|.	.;.;.;.;DDR1_HUMAN|.	Q|K	682;645;645;645;688;645;682;682;663;645;688;414;349|39	ENSP00000318217:P682Q;ENSP00000407699:P645Q;ENSP00000406091:P645Q;ENSP00000365753:P645Q;ENSP00000365759:P688Q;ENSP00000365754:P645Q;ENSP00000365752:P682Q;ENSP00000405039:P682Q;ENSP00000422442:P663Q;ENSP00000365751:P645Q;ENSP00000427552:P688Q;ENSP00000398682:P414Q;ENSP00000354844:P349Q|.	ENSP00000318217:P682Q|.	P|Q	+|+	2|1	0|0	DDR1|DDR1	30973182|30973182	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.974000|0.974000	0.67602|0.67602	5.959000|5.959000	0.70339|0.70339	2.525000|2.525000	0.85131|0.85131	0.462000|0.462000	0.41574|0.41574	CCA|CAA		0.547	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		A	30865203	C	A	30865203	3	1	78	1	0	0	0	0	1	0	0	0	4338	594	21	4	2117	4	DDR1	6	30865203	Missense_Mutation	SNP	C	TCGA-A4-8517-01A-11D-2396-08		30865203	140249864	31	5283											
BAT4	7918	hgsc.bcm.edu	37	6	31632033	31632035	+	In_Frame_Del	DEL	TTC	TTC	-	rs367920721		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:31632033_31632035delTTC	ENST00000375906.1	-	3	905_907	c.221_223delGAA	c.(220-225)agaata>ata	p.R74del	GPANK1_ENST00000375893.2_In_Frame_Del_p.R74del|GPANK1_ENST00000375896.4_In_Frame_Del_p.R74del|GPANK1_ENST00000375895.2_In_Frame_Del_p.R74del|Y_RNA_ENST00000364337.1_RNA|CSNK2B_ENST00000375866.2_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|CSNK2B_ENST00000375865.2_5'Flank|GPANK1_ENST00000375900.4_In_Frame_Del_p.R74del|CSNK2B_ENST00000375885.4_5'Flank|CSNK2B_ENST00000375882.2_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	74							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GCCTTCATTATTCTTCTTTTCTT	0.507																																																0									,,,,	3,4259		1,1,2129					,,,,	-2.1	0			84	2,8250		0,2,4124	no	coding,coding,coding,coding,coding	GPANK1	NM_033177.3,NM_001199240.1,NM_001199239.1,NM_001199238.1,NM_001199237.1	,,,,	1,3,6253	A1A1,A1R,RR		0.0242,0.0704,0.04	,,,,	,,,,		5,12509				SO:0001651	inframe_deletion	7918				CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.221_223delGAA	chr6.hg19:g.31632036_31632038delTTC	ENSP00000365071:p.Arg74del		A6NG25|B0UXA2|Q5SQ49	In_Frame_Del	DEL	ENST00000375906.1	hg19	CCDS4711.1																																																																																				0.507	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		-	31632035	TTC	-	31632033	7	5	78	1	0	1	0	1	0	0	0	0	1323	1493	52	0	855	0	BAT4	6	31632033	In_Frame_Del	DEL	TTC	TCGA-A4-8517-01A-11D-2396-08	766830	31632033	139483034	32	5284											
KIFC1	3833	hgsc.bcm.edu	37	6	33365943	33365943	+	Splice_Site	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:33365943G>T	ENST00000428849.2	+	2	600	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	50					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						AGCCTGAGAAGGTGAGCTGGG	0.542																																																0													60	62	61					6																	33365943		2203	4300	6503	SO:0001630	splice_region_variant	3833			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.150+1G>T	chr6.hg19:g.33365943G>T			O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	hg19	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035950	0.75617	.	.	ENSG00000237649	ENST00000428849;ENST00000450504	T	0.75260	-0.92	4.78	4.78	0.61160	.	0.217099	0.39274	N	0.001409	T	0.54334	0.1852	L	0.34521	1.04	0.43010	D	0.994544	P;P	0.43094	0.799;0.799	B;B	0.40901	0.343;0.343	T	0.61865	-0.6975	10	0.46703	T	0.11	-16.7844	13.1674	0.59579	0.0:0.0:1.0:0.0	.	50;50	B4E063;Q9BW19	.;KIFC1_HUMAN	N	50	ENSP00000393963:K50N	ENSP00000393963:K50N	K	+	3	2	KIFC1	33473921	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.761000	0.62243	2.493000	0.84123	0.455000	0.32223	AAG		0.542	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263	Missense_Mutation	T	33365943	G	T	33365943	5	4	78	1	0	0	0	0	0	0	1	0	8314	1014	35	4	156	4	KIFC1	6	33365943	Splice_Site	SNP	G	TCGA-A4-8517-01A-11D-2396-08	1733910	33365943	137749124	33	5285											
CUL9	23113	hgsc.bcm.edu	37	6	43153712	43153713	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:43153712_43153713TC>CT	ENST00000252050.4	+	4	854_855	c.770_771TC>CT	c.(769-771)tTC>tCT	p.F257S	CUL9_ENST00000354495.3_Missense_Mutation_p.F257S|CUL9_ENST00000372647.2_Missense_Mutation_p.F257S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	257					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AAGCTGCTTTTCTCCTTGGTGA	0.53																																																0																																										SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	Exception_encountered	chr6.hg19:g.43153712_43153713delinsCT	ENSP00000252050:p.Phe257Ser		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation|Silent	SNP	ENST00000252050.4	hg19	CCDS4890.1																																																																																				0.53	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		CT	43153713	TC	CT	43153712	3	2	78	1	0	0	0	0	1	0	0	0	4063	1783	62	3	780	3	CUL9	6	43153712	Missense_Mutation	DNP	TC	TCGA-A4-8517-01A-11D-2396-08	9787769	43153712	127961355	34	5286											
PLEKHG1	57480	hgsc.bcm.edu	37	6	151117019	151117019	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:151117019T>G	ENST00000358517.2	+	5	821	c.610T>G	c.(610-612)Tat>Gat	p.Y204D	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Y204D			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	204	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTATACCCAGTATTGCACTAA	0.358																																																0													161	148	152					6																	151117019		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.610T>G	chr6.hg19:g.151117019T>G	ENSP00000351318:p.Tyr204Asp		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	hg19	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310648	0.81358	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.82255	-1.59;-1.59	5.58	5.58	0.84498	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.94503	0.8230	H	0.98818	4.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96775	0.9571	10	0.87932	D	0	.	15.756	0.78025	0.0:0.0:0.0:1.0	.	11;204;204	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	D	204	ENSP00000356297:Y204D;ENSP00000351318:Y204D	ENSP00000351318:Y204D	Y	+	1	0	PLEKHG1	151158712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.131000	0.65755	0.533000	0.62120	TAT		0.358	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			G	151117019	T	G	151117019	3	3	78	1	0	0	0	0	1	0	0	0	12070	1638	57	5	624	5	PLEKHG1	6	151117019	Missense_Mutation	SNP	T	TCGA-A4-8517-01A-11D-2396-08	107963307	151117019	19998048	35	5287											
MLLT4	4301	hgsc.bcm.edu	37	6	168349109	168349109	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr6:168349109A>T	ENST00000447894.2	+	28	3761	c.3761A>T	c.(3760-3762)gAa>gTa	p.E1254V	MLLT4_ENST00000366806.2_Missense_Mutation_p.E1254V|MLLT4_ENST00000400822.3_Missense_Mutation_p.E1253V|MLLT4_ENST00000392112.1_Missense_Mutation_p.E1237V|MLLT4_ENST00000351017.4_Missense_Mutation_p.E1261V|MLLT4_ENST00000344191.4_Missense_Mutation_p.E1254V|MLLT4_ENST00000392108.3_Missense_Mutation_p.E1254V			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1254					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AATTATGAGGAAAAGCCACAT	0.448			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													90	84	86					6																	168349109		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3761A>T	chr6.hg19:g.168349109A>T	ENSP00000404595:p.Glu1254Val		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	hg19		.	.	.	.	.	.	.	.	.	.	A	17.88	3.496251	0.64186	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04970	3.73;3.62;3.72;3.72;3.52;3.62;3.62	5.52	5.52	0.82312	.	0.343079	0.30392	N	0.009726	T	0.05686	0.0149	L	0.57536	1.79	0.46954	D	0.999266	P;P;P;B	0.40376	0.556;0.683;0.715;0.305	B;B;B;B	0.40602	0.179;0.334;0.244;0.133	T	0.09164	-1.0687	10	0.62326	D	0.03	-23.1008	15.6454	0.77046	1.0:0.0:0.0:0.0	.	1254;1253;1254;1238	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	V	1254;1261;1254;1254;1237;1254;1253;1254	ENSP00000341118:E1254V;ENSP00000252692:E1261V;ENSP00000375956:E1254V;ENSP00000355771:E1254V;ENSP00000375960:E1237V;ENSP00000383623:E1253V;ENSP00000404595:E1254V	ENSP00000345834:E1254V	E	+	2	0	MLLT4	168091958	1.000000	0.71417	0.894000	0.35097	0.875000	0.50365	5.595000	0.67563	2.084000	0.62774	0.533000	0.62120	GAA		0.448	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		T	168349109	A	T	168349109	3	4	78	1	0	0	0	0	1	0	0	0	9631	246	9	5	3871	5	MLLT4	6	168349109	Missense_Mutation	SNP	A	TCGA-A4-8517-01A-11D-2396-08	17232090	168349109	2765958	36	5288											
OGDH	4967	hgsc.bcm.edu	37	7	44747234	44747234	+	Silent	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr7:44747234T>C	ENST00000222673.5	+	22	2892	c.2850T>C	c.(2848-2850)aaT>aaC	p.N950N	OGDH_ENST00000449767.1_Silent_p.N946N|OGDH_ENST00000447398.1_Silent_p.N961N|OGDH_ENST00000444676.1_Silent_p.N965N|OGDH_ENST00000439616.2_Silent_p.N800N|OGDH_ENST00000543843.1_Silent_p.N901N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	950					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AGTACCCCAATGCTGAGCTGG	0.567																																																0													130	115	120					7																	44747234		2203	4300	6503	SO:0001819	synonymous_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2850T>C	chr7.hg19:g.44747234T>C			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	hg19	CCDS34627.1																																																																																				0.567	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			C	44747234	T	C	44747234	2	2	78	1	0	0	0	0	0	0	0	1	10841	1461	51	3		3	OGDH	7	44747234	Silent	SNP	T	TCGA-A4-8517-01A-11D-2396-08		44747234	114391429	37	5289											
SSPO	23145	hgsc.bcm.edu	37	7	149502569	149502569	+	RNA	SNP	C	C	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr7:149502569C>A	ENST00000378016.2	+	0	8382							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGAGGGGGCCCTGGCTGGC	0.677																																																0													35	41	39					7																	149502569		1903	4106	6009			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		chr7.hg19:g.149502569C>A			Q76B61	Silent	SNP	ENST00000378016.2	hg19																																																																																					0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149502569	C	A	149502569	1	1	78	0	1	0	0	0	0	0	0	0	15194	726	26	4		4	SSPO	7	149502569	RNA	SNP	C	TCGA-A4-8517-01A-11D-2396-08	104755335	149502569	9636094	38	5290											
UBE3C	9690	hgsc.bcm.edu	37	7	156963038	156963038	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr7:156963038T>A	ENST00000348165.5	+	4	596	c.236T>A	c.(235-237)tTg>tAg	p.L79*	UBE3C_ENST00000389103.4_Nonsense_Mutation_p.L36*	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	79					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTGCTACCTTGTCACAGTCC	0.393																																																0													157	154	155					7																	156963038		2203	4300	6503	SO:0001587	stop_gained	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.236T>A	chr7.hg19:g.156963038T>A	ENSP00000309198:p.Leu79*		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Nonsense_Mutation	SNP	ENST00000348165.5	hg19	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	T	8.672	0.903131	0.17760	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	.	.	.	4.82	1.18	0.20946	.	0.609361	0.15952	N	0.236699	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	6.478	0.22047	0.0:0.3795:0.0:0.6205	.	.	.	.	X	79;36	.	ENSP00000309198:L79X	L	+	2	0	UBE3C	156655799	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	1.040000	0.30278	-0.027000	0.13873	0.528000	0.53228	TTG		0.393	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		A	156963038	T	A	156963038	4	1	78	1	0	0	0	0	0	1	0	0	16886	1821	63	5	250	5	UBE3C	7	156963038	Nonsense_Mutation	SNP	T	TCGA-A4-8517-01A-11D-2396-08	7460469	156963038	2175625	39	5291											
KIF13B	23303	hgsc.bcm.edu	37	8	28991587	28991587	+	Silent	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr8:28991587C>T	ENST00000524189.1	-	22	2792	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	918					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCATGCAGTGCGGCTCCTTGC	0.458																																																0													60	60	60					8																	28991587		1999	4166	6165	SO:0001819	synonymous_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2754G>A	chr8.hg19:g.28991587C>T			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	hg19	CCDS55217.1																																																																																				0.458	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			T	28991587	C	T	28991587	2	4	78	1	0	0	0	0	0	0	0	1	8277	755	27	1		1	KIF13B	8	28991587	Silent	SNP	C	TCGA-A4-8517-01A-11D-2396-08		28991587	117372435	40	5292											
DDX58	23586	hgsc.bcm.edu	37	9	32467853	32467868	+	Frame_Shift_Del	DEL	AGGTGGCAATCAGAAT	AGGTGGCAATCAGAAT	-	rs61757209	byFrequency	TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	AGGTGGCAATCAGAAT	AGGTGGCAATCAGAAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr9:32467853_32467868delAGGTGGCAATCAGAAT	ENST00000379883.2	-	15	2234_2249	c.2077_2092delATTCTGATTGCCACCT	c.(2077-2094)attctgattgccacctcafs	p.ILIATS693fs	DDX58_ENST00000542096.1_Frame_Shift_Del_p.ILIATS622fs|DDX58_ENST00000379868.1_Frame_Shift_Del_p.ILIATS490fs|DDX58_ENST00000545044.1_Frame_Shift_Del_p.ILIATS490fs|DDX58_ENST00000379882.1_Frame_Shift_Del_p.ILIATS648fs	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	693	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TCAGCAACTGAGGTGGCAATCAGAATATTGTGATCT	0.435																																																0																																										SO:0001589	frameshift_variant	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2077_2092delATTCTGATTGCCACCT	chr9.hg19:g.32467853_32467868delAGGTGGCAATCAGAAT	ENSP00000369213:p.Ile693fs		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Frame_Shift_Del	DEL	ENST00000379883.2	hg19	CCDS6526.1																																																																																				0.435	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		-	32467868	AGGTGGCAATCAGAAT	-	32467853	7	5	78	1	0	1	0	1	0	0	0	0	4377	304	11	0	701	0	DDX58	9	32467853	Frame_Shift_Del	DEL	AGGTGGCAATCAGAAT	TCGA-A4-8517-01A-11D-2396-08		32467853	108745578	41	5293											
SPTLC1	10558	hgsc.bcm.edu	37	9	94821490	94821490	+	Silent	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr9:94821490G>A	ENST00000262554.2	-	7	666	c.661C>T	c.(661-663)Cta>Tta	p.L221L	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	221					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TGTTCTTTTAGTAGTCGCTCG	0.353																																																0													82	76	78					9																	94821490		2203	4300	6503	SO:0001819	synonymous_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.661C>T	chr9.hg19:g.94821490G>A			A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	hg19	CCDS6692.1																																																																																				0.353	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		A	94821490	G	A	94821490	2	1	78	1	0	0	0	0	0	0	0	1	15128	1020	36	2		2	SPTLC1	9	94821490	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08	62353637	94821490	46391941	42	5294											
OR1L8	138881	hgsc.bcm.edu	37	9	125330116	125330116	+	Missense_Mutation	SNP	C	C	T	rs377120372		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr9:125330116C>T	ENST00000304865.2	-	1	722	c.641G>A	c.(640-642)tGc>tAc	p.C214Y		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAAGCAATGCAGAGAAAACG	0.438																																																0													77	67	71					9																	125330116		2203	4300	6503	SO:0001583	missense	138881				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"GPCR / Class A : Olfactory receptors"	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.641G>A	chr9.hg19:g.125330116C>T	ENSP00000306607:p.Cys214Tyr		A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	hg19	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720346	0.30503	.	.	ENSG00000171496	ENST00000304865	T	0.37411	1.2	4.49	-1.53	0.08611	GPCR, rhodopsin-like superfamily (1);	0.418105	0.20181	N	0.097537	T	0.49745	0.1575	L	0.55213	1.73	0.28899	N	0.893404	P	0.38167	0.621	P	0.55871	0.786	T	0.58387	-0.7645	10	0.59425	D	0.04	-12.7197	15.5399	0.76035	0.7908:0.2092:0.0:0.0	.	214	Q8NGR8	OR1L8_HUMAN	Y	214	ENSP00000306607:C214Y	ENSP00000306607:C214Y	C	-	2	0	OR1L8	124369937	0.000000	0.05858	0.169000	0.22859	0.363000	0.29612	0.406000	0.21032	-0.042000	0.13535	0.449000	0.29647	TGC		0.438	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			T	125330116	C	T	125330116	3	4	78	1	0	0	0	0	1	0	0	0	10969	710	25	2	292	2	OR1L8	9	125330116	Missense_Mutation	SNP	C	TCGA-A4-8517-01A-11D-2396-08	30508626	125330116	15883315	43	5295											
NUDT5	11164	hgsc.bcm.edu	37	10	12226925	12226925	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:12226925C>G	ENST00000491614.1	-	3	489	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q	NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378940.3_Missense_Mutation_p.E32Q|NUDT5_ENST00000378927.3_Missense_Mutation_p.E32Q|NUDT5_ENST00000537776.1_Missense_Mutation_p.E32Q|NUDT5_ENST00000378937.3_Missense_Mutation_p.E32Q			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	32					D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GTTGTTTTTTCAAGCTTGACC	0.313																																																0													95	90	92					10																	12226925		2203	4299	6502	SO:0001583	missense	11164			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"Nudix motif containing"	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.94G>C	chr10.hg19:g.12226925C>G	ENSP00000419628:p.Glu32Gln		A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	ENST00000491614.1	hg19	CCDS7089.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614095	0.46631	.	.	ENSG00000165609	ENST00000491614;ENST00000378929;ENST00000378937;ENST00000537776;ENST00000378940;ENST00000378927;ENST00000444732	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.87	5.87	0.94306	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.044865	0.85682	D	0.000000	T	0.45377	0.1339	L	0.39514	1.22	0.45914	D	0.998752	D;D	0.65815	0.995;0.993	P;P	0.54889	0.763;0.647	T	0.08289	-1.0729	10	0.17832	T	0.49	-36.1269	13.3498	0.60595	0.0:0.9242:0.0:0.0758	.	32;32	A6NCQ0;Q9UKK9	.;NUDT5_HUMAN	Q	32	ENSP00000419628:E32Q;ENSP00000368219:E32Q;ENSP00000445116:E32Q;ENSP00000368222:E32Q;ENSP00000368209:E32Q	ENSP00000368209:E32Q	E	-	1	0	NUDT5	12266931	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.053000	0.57427	2.941000	0.99782	0.655000	0.94253	GAA		0.313	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			G	12226925	C	G	12226925	3	3	78	1	0	0	0	0	1	0	0	0	10744	835	29	4	597	4	NUDT5	10	12226925	Missense_Mutation	SNP	C	TCGA-A4-8517-01A-11D-2396-08		12226925	123307822	44	5296											
HSPA14	51182	hgsc.bcm.edu	37	10	14896200	14896200	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:14896200T>A	ENST00000378372.3	+	9	1050	c.811T>A	c.(811-813)Tct>Act	p.S271T		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	271					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AGCGAAACATTCTTTGTCAAC	0.373																																																0													154	147	149					10																	14896200		2203	4300	6503	SO:0001583	missense	51182			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.811T>A	chr10.hg19:g.14896200T>A	ENSP00000367623:p.Ser271Thr		A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	hg19	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	T	4.451	0.083454	0.08533	.	.	ENSG00000187522	ENST00000378372	T	0.00949	5.51	5.53	4.37	0.52481	.	0.173267	0.52532	D	0.000061	T	0.00468	0.0015	N	0.01515	-0.825	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.46803	-0.9165	10	0.02654	T	1	-8.9176	11.4861	0.50354	0.0:0.0:0.2868:0.7132	.	271	Q0VDF9	HSP7E_HUMAN	T	271	ENSP00000367623:S271T	ENSP00000367623:S271T	S	+	1	0	HSPA14	14936206	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.499000	0.45372	0.916000	0.36871	0.533000	0.62120	TCT		0.373	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		A	14896200	T	A	14896200	3	1	78	1	0	0	0	0	1	0	0	0	7409	1783	62	5	845	5	HSPA14	10	14896200	Missense_Mutation	SNP	T	TCGA-A4-8517-01A-11D-2396-08	2669275	14896200	120638547	45	5297											
FAM13C	220965	hgsc.bcm.edu	37	10	61112192	61112192	+	Silent	SNP	C	C	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:61112192C>A	ENST00000373868.2	-	3	249	c.162G>T	c.(160-162)ctG>ctT	p.L54L	FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000435852.2_Silent_p.L54L|FAM13C_ENST00000277705.6_Silent_p.L54L|FAM13C_ENST00000419214.2_Silent_p.L54L|FAM13C_ENST00000422313.2_Silent_p.L54L|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000442566.3_Silent_p.L54L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	54										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTCTTCTACCAGAGCCCCTG	0.502																																																0													30	33	32					10																	61112192		2203	4300	6503	SO:0001819	synonymous_variant	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.162G>T	chr10.hg19:g.61112192C>A			B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	hg19	CCDS7255.1																																																																																				0.502	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			A	61112192	C	A	61112192	2	1	78	1	0	0	0	0	0	0	0	1	5456	581	21	4		4	FAM13C	10	61112192	Silent	SNP	C	TCGA-A4-8517-01A-11D-2396-08	46215992	61112192	74422555	46	5298											
CPEB3	22849	hgsc.bcm.edu	37	10	93999658	93999658	+	Silent	SNP	A	A	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:93999658A>C	ENST00000265997.4	-	2	622	c.450T>G	c.(448-450)acT>acG	p.T150T	CPEB3_ENST00000412050.4_Silent_p.T150T	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	150	Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GCGGGGAGAAAGTGCCTCCGA	0.677																																																0													39	36	37					10																	93999658		2203	4300	6503	SO:0001819	synonymous_variant	22849			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.450T>G	chr10.hg19:g.93999658A>C			Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	ENST00000265997.4	hg19	CCDS31246.1																																																																																				0.677	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		C	93999658	A	C	93999658	2	2	78	1	0	0	0	0	0	0	0	1	3804	59	3	5		5	CPEB3	10	93999658	Silent	SNP	A	TCGA-A4-8517-01A-11D-2396-08	32887466	93999658	41535089	47	5299											
TLL2	7093	hgsc.bcm.edu	37	10	98145849	98145849	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:98145849G>C	ENST00000357947.3	-	15	2201	c.1976C>G	c.(1975-1977)tCc>tGc	p.S659C		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	659	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAACTGAAGGGAGATCCGGTA	0.517																																																0													99	94	95					10																	98145849		2203	4300	6503	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1976C>G	chr10.hg19:g.98145849G>C	ENSP00000350630:p.Ser659Cys		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	hg19	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617588	0.87359	.	.	ENSG00000095587	ENST00000357947	T	0.19669	2.13	4.77	4.77	0.60923	CUB (5);	0.000000	0.45126	D	0.000385	T	0.49406	0.1555	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48269	-0.9050	10	0.42905	T	0.14	.	17.3218	0.87238	0.0:0.0:1.0:0.0	.	659	Q9Y6L7	TLL2_HUMAN	C	659	ENSP00000350630:S659C	ENSP00000350630:S659C	S	-	2	0	TLL2	98135839	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.651000	0.90000	0.585000	0.79938	TCC		0.517	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			C	98145849	G	C	98145849	3	2	78	1	0	0	0	0	1	0	0	0	15951	1174	41	4	1099	4	TLL2	10	98145849	Missense_Mutation	SNP	G	TCGA-A4-8517-01A-11D-2396-08	4146191	98145849	37388898	48	5300											
GBF1	8729	hgsc.bcm.edu	37	10	104139057	104139057	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr10:104139057A>G	ENST00000369983.3	+	34	4768	c.4508A>G	c.(4507-4509)cAc>cGc	p.H1503R		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1503					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GACCTGATGCACACCCTGCAC	0.587																																																0													71	64	66					10																	104139057		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4508A>G	chr10.hg19:g.104139057A>G	ENSP00000359000:p.His1503Arg		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	hg19	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132469	0.77662	.	.	ENSG00000107862	ENST00000369983	T	0.12039	2.72	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.981	D;D;D	0.69824	0.959;0.961;0.966	T	0.12889	-1.0530	10	0.72032	D	0.01	-12.8919	15.3201	0.74115	1.0:0.0:0.0:0.0	.	1499;1499;1503	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	R	1503	ENSP00000359000:H1503R	ENSP00000359000:H1503R	H	+	2	0	GBF1	104129047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.097000	0.94193	2.200000	0.70718	0.459000	0.35465	CAC		0.587	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			G	104139057	A	G	104139057	3	3	78	1	0	0	0	0	1	0	0	0	6273	159	6	3	4638	3	GBF1	10	104139057	Missense_Mutation	SNP	A	TCGA-A4-8517-01A-11D-2396-08	5993208	104139057	31395690	49	5301											
LRRC55	219527	hgsc.bcm.edu	37	11	56949791	56949792	+	Missense_Mutation	DNP	AA	AA	TC			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:56949791_56949792AA>TC	ENST00000497933.1	+	1	571_572	c.424_425AA>TC	c.(424-426)AAc>TCc	p.N142S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	112					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TTTGCACAACAACTCCTTAATG	0.584																																																0																																										SO:0001583	missense	219527				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	Exception_encountered	chr11.hg19:g.56949791_56949792delinsTC	ENSP00000419542:p.Asn142Ser		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	hg19	CCDS31539.1																																																																																				0.584	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		TC	56949792	AA	TC	56949791	3	4	78	1	0	0	0	0	1	0	0	0	9013	130	5	5	426	5	LRRC55	11	56949791	Missense_Mutation	DNP	AA	TCGA-A4-8517-01A-11D-2396-08		56949791	78056725	50	5302											
RAB38	23682	hgsc.bcm.edu	37	11	87908439	87908439	+	Silent	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:87908439G>A	ENST00000243662.6	-	1	196	c.114C>T	c.(112-114)taC>taT	p.Y38Y	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	38					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGTGGCCCGGTAGTGCGAAG	0.612																																																0													109	78	88					11																	87908439		2201	4299	6500	SO:0001819	synonymous_variant	23682			AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"RAB, member RAS oncogene"	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.114C>T	chr11.hg19:g.87908439G>A			Q53XK7	Silent	SNP	ENST00000243662.6	hg19	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.90|19.90	3.912749|3.912749	0.72983|0.72983	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000531138|ENST00000526372	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|.	.|.	.|.	.|.	T|T	0.74846|0.74846	0.3770|0.3770	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73173|0.73173	-0.4066|-0.4066	4|4	.|.	.|.	.|.	-2.7885|-2.7885	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|I	55|55	.|.	.|.	P|T	-|-	1|2	0|0	RAB38|RAB38	87548087|87548087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.504000|6.504000	0.73704|0.73704	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	CCG|ACC		0.612	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			A	87908439	G	A	87908439	2	1	78	1	0	0	0	0	0	0	0	1	12934	1256	44	2		2	RAB38	11	87908439	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08	30958648	87908439	47098077	51	5303											
FAM55D	54827	hgsc.bcm.edu	37	11	114450961	114450961	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:114450961C>T	ENST00000375478.3	-	5	1172	c.992G>A	c.(991-993)aGt>aAt	p.S331N	NXPE4_ENST00000424261.2_Missense_Mutation_p.S47N	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	331						extracellular vesicular exosome (GO:0070062)											TGTAGCCAAACTACAGGAGAC	0.443																																																0													187	175	179					11																	114450961		1880	4122	6002	SO:0001583	missense	54827			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.992G>A	chr11.hg19:g.114450961C>T	ENSP00000364627:p.Ser331Asn		Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	hg19	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	7.005	0.555720	0.13436	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.13901	2.55;2.81	5.31	-0.797	0.10909	.	0.305202	0.31519	N	0.007506	T	0.07098	0.0180	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36553	-0.9743	10	0.09338	T	0.73	.	2.9753	0.05935	0.3243:0.2745:0.0:0.4012	.	331	Q6UWF7	FA55D_HUMAN	N	47;331	ENSP00000401503:S47N;ENSP00000364627:S331N	ENSP00000364627:S331N	S	-	2	0	FAM55D	113956171	0.159000	0.22864	0.003000	0.11579	0.936000	0.57629	0.469000	0.22067	0.168000	0.19655	0.655000	0.94253	AGT		0.443	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		T	114450961	C	T	114450961	3	4	78	1	0	0	0	0	1	0	0	0	5589	565	20	2	650	2	FAM55D	11	114450961	Missense_Mutation	SNP	C	TCGA-A4-8517-01A-11D-2396-08	26542522	114450961	20555555	52	5304											
DSCAML1	57453	hgsc.bcm.edu	37	11	117308640	117308640	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr11:117308640T>C	ENST00000321322.6	-	25	4584	c.4583A>G	c.(4582-4584)gAg>gGg	p.E1528G	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1258G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1468	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTCGATGATCTCGCTGATGCG	0.657																																																0													80	62	68					11																	117308640		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4583A>G	chr11.hg19:g.117308640T>C	ENSP00000315465:p.Glu1528Gly		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	hg19	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.465316	0.63513	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.56444	0.46;0.46	4.18	4.18	0.49190	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60170	0.2248	M	0.86740	2.835	0.80722	D	1	B	0.18461	0.028	B	0.24394	0.053	T	0.65878	-0.6061	9	0.72032	D	0.01	.	13.7305	0.62785	0.0:0.0:0.0:1.0	.	1468	Q8TD84	DSCL1_HUMAN	G	1258;1528;1235	ENSP00000434335:E1258G;ENSP00000315465:E1528G	ENSP00000315465:E1528G	E	-	2	0	DSCAML1	116813850	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.785000	0.85724	1.878000	0.54408	0.454000	0.30748	GAG		0.657	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		C	117308640	T	C	117308640	3	2	78	1	0	0	0	0	1	0	0	0	4771	1551	54	3	1794	3	DSCAML1	11	117308640	Missense_Mutation	SNP	T	TCGA-A4-8517-01A-11D-2396-08	2857679	117308640	17697876	53	5305											
ARF3	377	hgsc.bcm.edu	37	12	49334777	49334777	+	Silent	SNP	T	T	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr12:49334777T>C	ENST00000256682.4	-	2	436	c.102A>G	c.(100-102)ctA>ctG	p.L34L	ARF3_ENST00000541959.1_Silent_p.L34L|AC073610.5_ENST00000537495.1_5'Flank|ARF3_ENST00000541967.1_5'Flank|RP11-302B13.5_ENST00000398092.4_Silent_p.L34L|ARF3_ENST00000447318.2_Silent_p.L34L	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	34					GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						TCAGCTTGTATAGGATGGTGG	0.552																																					Pancreas(189;1862 2134 4419 30933 49364)											0													246	205	219					12																	49334777		2203	4300	6503	SO:0001819	synonymous_variant	377			M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"ADP-ribosylation factors"	654	protein-coding gene	gene with protein product	"small GTP binding protein"	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.102A>G	chr12.hg19:g.49334777T>C			A8K6G8|B7ZB63|P16587	Silent	SNP	ENST00000256682.4	hg19	CCDS8774.1																																																																																				0.552	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2	NM_001659		C	49334777	T	C	49334777	2	2	78	1	0	0	0	0	0	0	0	1	845	1393	49	3		3	ARF3	12	49334777	Silent	SNP	T	TCGA-A4-8517-01A-11D-2396-08		49334777	84517118	54	5306											
CHD8	57680	hgsc.bcm.edu	37	14	21870158	21870158	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr14:21870158delG	ENST00000557364.1	-	20	4283	c.4020delC	c.(4018-4020)accfs	p.T1340fs	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Frame_Shift_Del_p.T1061fs|CHD8_ENST00000399982.2_Frame_Shift_Del_p.T1340fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1340					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAATGGTGATGGTTGTAGTTC	0.428																																																0													175	170	172					14																	21870158		2022	4216	6238	SO:0001589	frameshift_variant	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4020delC	chr14.hg19:g.21870158delG	ENSP00000451601:p.Thr1340fs		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	hg19	CCDS53885.1																																																																																				0.428	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		-	21870158	G	-	21870158	7	5	78	1	0	1	0	1	0	0	0	0	3333	1335	47	0	3801	0	CHD8	14	21870158	Frame_Shift_Del	DEL	G	TCGA-A4-8517-01A-11D-2396-08		21870158	85479382	55	5307											
SYNE2	23224	hgsc.bcm.edu	37	14	64633956	64633956	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr14:64633956T>A	ENST00000344113.4	+	91	16823	c.16611T>A	c.(16609-16611)caT>caA	p.H5537Q	SYNE2_ENST00000555002.1_Missense_Mutation_p.H2171Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.H5537Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.H1922Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.H5412Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.H1922Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5537					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATAGAATCATGTGCTGGCAC	0.378																																																0													46	47	46					14																	64633956		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16611T>A	chr14.hg19:g.64633956T>A	ENSP00000341781:p.His5537Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	3.587	-0.084487	0.07097	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.55234	0.84;4.13;0.83;0.53;4.19;4.13	5.78	-2.01	0.07410	.	0.246206	0.28241	N	0.016071	T	0.32224	0.0822	L	0.39245	1.2	0.58432	D	0.999999	B;B;B;B	0.25772	0.004;0.112;0.008;0.134	B;B;B;B	0.26864	0.007;0.032;0.011;0.074	T	0.04053	-1.0981	10	0.17369	T	0.5	.	3.6697	0.08269	0.1137:0.4232:0.1908:0.2723	.	1922;5412;5537;5537	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	Q	5537;1922;5537;5412;5418;2171;1922	ENSP00000350719:H5537Q;ENSP00000349969:H1922Q;ENSP00000341781:H5537Q;ENSP00000452570:H5412Q;ENSP00000450831:H2171Q;ENSP00000378249:H1922Q	ENSP00000261678:H5418Q	H	+	3	2	SYNE2	63703709	0.000000	0.05858	0.820000	0.32676	0.932000	0.56968	-3.318000	0.00514	-0.265000	0.09352	0.533000	0.62120	CAT		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64633956	T	A	64633956	3	1	78	1	0	0	0	0	1	0	0	0	15451	1461	51	5	16969	5	SYNE2	14	64633956	Missense_Mutation	SNP	T	TCGA-A4-8517-01A-11D-2396-08	42763798	64633956	42715584	56	5308											
FBLN5	10516	hgsc.bcm.edu	37	14	92349359	92349359	+	Silent	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr14:92349359G>T	ENST00000342058.4	-	8	1394	c.801C>A	c.(799-801)ggC>ggA	p.G267G	FBLN5_ENST00000267620.10_Silent_p.G308G|FBLN5_ENST00000556154.1_Silent_p.G272G	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	267	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AGAAGTATGTGCCGGGCTGGT	0.562																																																0													140	120	126					14																	92349359		2203	4300	6503	SO:0001819	synonymous_variant	10516			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.801C>A	chr14.hg19:g.92349359G>T			O75966|Q6IAL4|Q6UWA3	Silent	SNP	ENST00000342058.4	hg19	CCDS9898.1																																																																																				0.562	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			T	92349359	G	T	92349359	2	4	78	1	0	0	0	0	0	0	0	1	5702	1306	46	4		4	FBLN5	14	92349359	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08	27715403	92349359	15000181	57	5309											
VPS39	23339	hgsc.bcm.edu	37	15	42462024	42462024	+	Silent	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr15:42462024G>T	ENST00000348544.4	-	13	1163	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P	VPS39_ENST00000318006.5_Silent_p.P377P			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	388					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGTAGTCTGTGGGCAGCAGGT	0.493																																																0													110	104	106					15																	42462024		2203	4299	6502	SO:0001819	synonymous_variant	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1164C>A	chr15.hg19:g.42462024G>T			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	hg19	CCDS10083.1																																																																																				0.493	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		T	42462024	G	T	42462024	2	4	78	1	0	0	0	0	0	0	0	1	17214	1335	47	4		4	VPS39	15	42462024	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08		42462024	60069368	58	5310											
SCAPER	49855	hgsc.bcm.edu	37	15	76726602	76726603	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr15:76726602_76726603insTA	ENST00000563290.1	-	26	3222_3223	c.3127_3128insTA	c.(3127-3129)aaafs	p.K1043fs	SCAPER_ENST00000538941.2_Frame_Shift_Ins_p.K797fs|SCAPER_ENST00000324767.7_Frame_Shift_Ins_p.K1043fs			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1043						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AAAAACTTGTTTATTTGTATTT	0.371																																																0																																										SO:0001589	frameshift_variant	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3126_3127dupTA	chr15.hg19:g.76726603_76726604dupTA	ENSP00000454973:p.Lys1043fs		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Frame_Shift_Ins	INS	ENST00000563290.1	hg19	CCDS53962.1																																																																																				0.371	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		TA	76726603	-	TA	76726602	7	5	78	1	0	1	1	0	0	0	0	0	13884	1841	64	0	1102	0	SCAPER	15	76726602	Frame_Shift_Ins	INS	-	TCGA-A4-8517-01A-11D-2396-08	34264578	76726602	25804790	59	5311											
SMG1	23049	hgsc.bcm.edu	37	16	18856931	18856931	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr16:18856931delC	ENST00000446231.2	-	39	6451	c.6039delG	c.(6037-6039)ttgfs	p.L2013fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.L2013fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2013					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGGGCTTCATCAAAGCTGTGT	0.388																																																0													130	120	123					16																	18856931		1903	4130	6033	SO:0001589	frameshift_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6039delG	chr16.hg19:g.18856931delC	ENSP00000402515:p.Leu2013fs		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL	ENST00000446231.2	hg19	CCDS45430.1																																																																																				0.388	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		-	18856931	C	-	18856931	7	5	78	1	0	1	0	1	0	0	0	0	14801	825	29	0	5046	0	SMG1	16	18856931	Frame_Shift_Del	DEL	C	TCGA-A4-8517-01A-11D-2396-08		18856931	71497822	60	5312											
NOL3	8996	hgsc.bcm.edu	37	16	67208730	67208730	+	Silent	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr16:67208730G>A	ENST00000568146.1	+	3	545	c.492G>A	c.(490-492)cgG>cgA	p.R164R	KIAA0895L_ENST00000563831.2_5'Flank|NOL3_ENST00000564053.1_Missense_Mutation_p.E230K|NOL3_ENST00000268605.7_Missense_Mutation_p.E168K|NOL3_ENST00000432069.2_Missense_Mutation_p.E168K			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	164					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGctgaaccggagccggagcc	0.682																																																0													20	30	26					16																	67208730		2034	4211	6245	SO:0001819	synonymous_variant	8996			AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.492G>A	chr16.hg19:g.67208730G>A			B4DFL0|O60937	Missense_Mutation	SNP	ENST00000568146.1	hg19	CCDS58473.1	.	.	.	.	.	.	.	.	.	.	g	11.53	1.665514	0.29604	.	.	ENSG00000140939	ENST00000432069;ENST00000268605	T;T	0.72167	-0.63;-0.63	1.38	0.29	0.15728	.	2.201480	0.01451	N	0.015497	T	0.50205	0.1602	.	.	.	0.09310	N	1	B	0.23854	0.092	B	0.12837	0.008	T	0.29912	-0.9996	9	0.17369	T	0.5	-9.4969	4.2104	0.10509	0.2347:0.0:0.7653:0.0	.	230	B4DFL0	.	K	168	ENSP00000399831:E168K;ENSP00000268605:E168K	ENSP00000268605:E168K	E	+	1	0	NOL3	65766231	0.024000	0.19004	0.003000	0.11579	0.030000	0.12068	0.709000	0.25734	0.155000	0.19261	0.430000	0.28490	GAG		0.682	NOL3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422746.1			A	67208730	G	A	67208730	2	1	78	1	0	0	0	0	0	0	0	1	10525	1175	41	2		2	NOL3	16	67208730	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08	48351799	67208730	23146023	61	5313											
ADAD2	161931	hgsc.bcm.edu	37	16	84228709	84228709	+	Silent	SNP	G	G	A	rs369199969		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr16:84228709G>A	ENST00000315906.5	+	4	694	c.642G>A	c.(640-642)gcG>gcA	p.A214A	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Silent_p.A286A|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	214					RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCTGCGCAGCGTTGGTGAGCG	0.637																																																0													45	47	46					16																	84228709		2200	4300	6500	SO:0001819	synonymous_variant	161931			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.642G>A	chr16.hg19:g.84228709G>A			B2RCL6|Q8NA94	Silent	SNP	ENST00000315906.5	hg19	CCDS45536.1																																																																																				0.637	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		A	84228709	G	A	84228709	2	1	78	1	0	0	0	0	0	0	0	1	232	1132	40	1		1	ADAD2	16	84228709	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08	17019979	84228709	6126044	62	5314											
PIP5K1C	23396	hgsc.bcm.edu	37	19	3653310	3653310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:3653310delT	ENST00000335312.3	-	7	987	c.899delA	c.(898-900)aagfs	p.K300fs	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Frame_Shift_Del_p.K300fs|PIP5K1C_ENST00000537021.1_Frame_Shift_Del_p.K300fs|PIP5K1C_ENST00000539785.1_Frame_Shift_Del_p.K300fs	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	300	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGCAGCGTCTTGACCAGGGC	0.692																																					Esophageal Squamous(135;99 1744 12852 27186 39851)											0													39	27	31					19																	3653310		2203	4297	6500	SO:0001589	frameshift_variant	23396			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.899delA	chr19.hg19:g.3653310delT	ENSP00000335333:p.Lys300fs		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Frame_Shift_Del	DEL	ENST00000335312.3	hg19	CCDS32872.1																																																																																				0.692	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		-	3653310	T	-	3653310	7	5	78	1	0	1	0	1	0	0	0	0	11943	1609	56	0	1155	0	PIP5K1C	19	3653310	Frame_Shift_Del	DEL	T	TCGA-A4-8517-01A-11D-2396-08		3653310	55475673	63	5315											
ZNF709	163051	hgsc.bcm.edu	37	19	12576137	12576137	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:12576137T>G	ENST00000397732.3	-	4	770	c.599A>C	c.(598-600)gAa>gCa	p.E200A	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E200A	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTCCCACATTCCTTACATTC	0.413																																					GBM(33;565 669 12371 29134 51667)											0													94	100	98					19																	12576137		2202	4300	6502	SO:0001583	missense	163051			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.599A>C	chr19.hg19:g.12576137T>G	ENSP00000380840:p.Glu200Ala		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	hg19	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.399242	0.62177	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06933	3.24;3.24	2.86	0.618	0.17624	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12305	0.0299	L	0.58354	1.805	0.09310	N	1	B	0.26002	0.139	B	0.40101	0.319	T	0.42378	-0.9455	9	0.59425	D	0.04	.	4.2166	0.10537	0.1786:0.1098:0.0:0.7115	.	200	Q8N972	ZN709_HUMAN	A	200	ENSP00000380840:E200A;ENSP00000404127:E200A	ENSP00000404127:E200A	E	-	2	0	ZNF709;CTD-2192J16.17	12437137	0.001000	0.12720	0.001000	0.08648	0.909000	0.53808	1.145000	0.31577	0.059000	0.16252	0.260000	0.18958	GAA		0.413	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		G	12576137	T	G	12576137	3	3	78	1	0	0	0	0	1	0	0	0	18118	1783	62	5	1330	5	ZNF709	19	12576137	Missense_Mutation	SNP	T	TCGA-A4-8517-01A-11D-2396-08	8922827	12576137	46552846	64	5316											
NOTCH3	4854	hgsc.bcm.edu	37	19	15303027	15303027	+	Silent	SNP	G	G	T	rs116044239		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:15303027G>T	ENST00000263388.2	-	4	498	c.423C>A	c.(421-423)cgC>cgA	p.R141R		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	141	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.		R -> C (in CADASIL). {ECO:0000269|PubMed:10227618, ECO:0000269|PubMed:10371548, ECO:0000269|PubMed:10854111, ECO:0000269|PubMed:11102981, ECO:0000269|PubMed:11755616, ECO:0000269|PubMed:15229130, ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764, ECO:0000269|PubMed:9388399}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGCAGAGGAAGCGTCCATCGG	0.701																																																0													20	22	22					19																	15303027		2201	4296	6497	SO:0001819	synonymous_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.423C>A	chr19.hg19:g.15303027G>T			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	hg19	CCDS12326.1																																																																																				0.701	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		T	15303027	G	T	15303027	2	4	78	1	0	0	0	0	0	0	0	1	10552	958	34	4		4	NOTCH3	19	15303027	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08	2726890	15303027	43825956	65	5317											
CLIP3	25999	hgsc.bcm.edu	37	19	36515358	36515358	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:36515358A>C	ENST00000360535.4	-	7	1085	c.858T>G	c.(856-858)aaT>aaG	p.N286K	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.N286K	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	286					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TAAGCATGAGATTGCCTGGGA	0.617																																																0													122	105	111					19																	36515358		2203	4300	6503	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.858T>G	chr19.hg19:g.36515358A>C	ENSP00000353732:p.Asn286Lys		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	hg19	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	A	8.190	0.795873	0.16327	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.74842	-0.88	5.88	0.203	0.15195	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.47173	0.1431	N	0.17082	0.46	0.52099	D	0.999948	B	0.32781	0.384	B	0.33196	0.159	T	0.46596	-0.9180	10	0.02654	T	1	-19.5733	5.4011	0.16297	0.3499:0.1781:0.472:0.0	.	286	Q96DZ5	CLIP3_HUMAN	K	286;168;262	ENSP00000353732:N286K	ENSP00000353732:N286K	N	-	3	2	CLIP3	41207198	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	0.954000	0.29175	-0.068000	0.12953	0.482000	0.46254	AAT		0.617	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		C	36515358	A	C	36515358	3	2	78	1	0	0	0	0	1	0	0	0	3536	330	12	5	817	5	CLIP3	19	36515358	Missense_Mutation	SNP	A	TCGA-A4-8517-01A-11D-2396-08	21212331	36515358	22613625	66	5318											
CHMP2A	27243	hgsc.bcm.edu	37	19	59063432	59063433	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr19:59063432_59063433insT	ENST00000600118.1	-	3	893_894	c.468_469insA	c.(466-471)gatgaafs	p.E157fs	CHMP2A_ENST00000312547.2_Frame_Shift_Ins_p.E157fs|CHMP2A_ENST00000601220.1_Frame_Shift_Ins_p.E157fs			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	157	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTCTCCTCTTCATCTTCCTCAT	0.505																																																0																																										SO:0001589	frameshift_variant	27243			AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"Charged multivesicular body proteins"	30216	protein-coding gene	gene with protein product	"putative breast adenocarcinoma marker (32kD)", "VPS2 homolog A (S. cerevisiae)"	610893	"chromatin modifying protein 2A"			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.468_469insA	chr19.hg19:g.59063432_59063433insT	ENSP00000469240:p.Glu157fs		B2R4W6|Q3ZTT0	Frame_Shift_Ins	INS	ENST00000600118.1	hg19	CCDS12986.1																																																																																				0.505	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		T	59063433	-	T	59063432	7	5	78	1	0	1	1	0	0	0	0	0	3356	835	29	0	211	0	CHMP2A	19	59063432	Frame_Shift_Ins	INS	-	TCGA-A4-8517-01A-11D-2396-08	22548074	59063432	65551	67	5319											
PYGB	5834	hgsc.bcm.edu	37	20	25271238	25271238	+	Missense_Mutation	SNP	G	G	A	rs139162483		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:25271238G>A	ENST00000216962.4	+	16	2059	c.1949G>A	c.(1948-1950)cGt>cAt	p.R650H		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	650					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GAGAACTACCGTGTGTCCTTG	0.552																																																0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	225	198	207		1949	4.1	0.9	20	dbSNP_134	207	0,8600		0,0,4300	no	missense	PYGB	NM_002862.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	650/844	25271238	1,13005	2203	4300	6503	SO:0001583	missense	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1949G>A	chr20.hg19:g.25271238G>A	ENSP00000216962:p.Arg650His		Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	hg19	CCDS13171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.923497|4.923497	0.92319|0.92319	2.27E-4|2.27E-4	0.0|0.0	ENSG00000100994|ENSG00000100994	ENST00000216962|ENST00000428458	D|.	0.93488|.	-3.23|.	4.1|4.1	4.1|4.1	0.47936|0.47936	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86447|0.86447	0.5935|0.5935	H|H	0.94698|0.94698	3.57|3.57	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.68483|.	0.958|.	D|D	0.90808|0.90808	0.4699|0.4699	10|5	0.66056|.	D|.	0.02|.	-11.4783|-11.4783	16.4812|16.4812	0.84158|0.84158	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	650|.	P11216|.	PYGB_HUMAN|.	H|M	650|69	ENSP00000216962:R650H|.	ENSP00000216962:R650H|.	R|V	+|+	2|1	0|0	PYGB|PYGB	25219238|25219238	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.941000|0.941000	0.58515|0.58515	7.643000|7.643000	0.83403|0.83403	2.286000|2.286000	0.76751|0.76751	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.552	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		A	25271238	G	A	25271238	3	1	78	1	0	0	0	0	1	0	0	0	12866	1145	40	1	2011	1	PYGB	20	25271238	Missense_Mutation	SNP	G	TCGA-A4-8517-01A-11D-2396-08		25271238	37754282	68	5320											
KIF3B	9371	hgsc.bcm.edu	37	20	30897803	30897803	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:30897803G>A	ENST00000375712.3	+	2	390	c.223G>A	c.(223-225)Gag>Aag	p.E75K	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	75	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACTGTACGATGAGACGTTCCG	0.488																																																0													157	136	143					20																	30897803		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.223G>A	chr20.hg19:g.30897803G>A	ENSP00000364864:p.Glu75Lys		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	hg19	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493801	0.84962	.	.	ENSG00000101350	ENST00000375712	T	0.74842	-0.88	4.76	4.76	0.60689	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	L	0.39692	1.235	0.80722	D	1	B;P	0.42620	0.02;0.785	B;P	0.44990	0.023;0.466	T	0.73464	-0.3974	10	0.42905	T	0.14	.	18.3265	0.90256	0.0:0.0:1.0:0.0	.	75;75	B4DYF2;O15066	.;KIF3B_HUMAN	K	75	ENSP00000364864:E75K	ENSP00000364864:E75K	E	+	1	0	KIF3B	30361464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.630000	0.89119	0.561000	0.74099	GAG		0.488	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		A	30897803	G	A	30897803	3	1	78	1	0	0	0	0	1	0	0	0	8303	1291	45	2	225	2	KIF3B	20	30897803	Missense_Mutation	SNP	G	TCGA-A4-8517-01A-11D-2396-08	5626565	30897803	32127717	69	5321											
SDC4	6385	hgsc.bcm.edu	37	20	43959164	43959164	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:43959164C>A	ENST00000372733.3	-	4	326	c.287G>T	c.(286-288)gGg>gTg	p.G96V	SDC4_ENST00000537976.1_Missense_Mutation_p.G24V	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	96					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)	p.G96E(1)	SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				GACTTGGCTCCCAGACCCTGC	0.532			T	ROS1	NSCLC																																		Dom	yes		20	20q12	6385	syndecan 4		E	1	Substitution - Missense(1)	endometrium(1)											86	73	77					20																	43959164		2203	4300	6503	SO:0001583	missense	6385			X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.287G>T	chr20.hg19:g.43959164C>A	ENSP00000361818:p.Gly96Val		O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	hg19	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	C	1.625	-0.520393	0.04171	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.29917	1.55	5.68	3.56	0.40772	.	0.486350	0.18834	N	0.129888	T	0.25457	0.0619	L	0.44542	1.39	0.25579	N	0.986817	B	0.10296	0.003	B	0.14023	0.01	T	0.13469	-1.0508	10	0.29301	T	0.29	-21.9327	11.2249	0.48877	0.143:0.7246:0.1323:0.0	.	96	P31431	SDC4_HUMAN	V	96;24	ENSP00000361818:G96V	ENSP00000361818:G96V	G	-	2	0	SDC4	43392578	0.042000	0.20092	0.902000	0.35471	0.284000	0.27059	0.780000	0.26760	1.334000	0.45468	0.561000	0.74099	GGG		0.532	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		A	43959164	C	A	43959164	3	1	78	1	0	0	0	0	1	0	0	0	13960	623	22	4	317	4	SDC4	20	43959164	Missense_Mutation	SNP	C	TCGA-A4-8517-01A-11D-2396-08	13061361	43959164	19066356	70	5322											
ARFGEF2	10564	hgsc.bcm.edu	37	20	47628619	47628619	+	Silent	SNP	C	C	A	rs371146257		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:47628619C>A	ENST00000371917.4	+	28	3916	c.3916C>A	c.(3916-3918)Cgg>Agg	p.R1306R		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1306					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGAGAGGCCTCGGGTTCGTTT	0.512																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													89	85	86					20																	47628619		2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3916C>A	chr20.hg19:g.47628619C>A			Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	hg19	CCDS13411.1																																																																																				0.512	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47628619	C	A	47628619	2	1	78	1	0	0	0	0	0	0	0	1	853	875	31	4		4	ARFGEF2	20	47628619	Silent	SNP	C	TCGA-A4-8517-01A-11D-2396-08	3669455	47628619	15396901	71	5323											
CDH26	60437	hgsc.bcm.edu	37	20	58569544	58569544	+	Splice_Site	SNP	G	G	C			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr20:58569544G>C	ENST00000244047.5	+	11	1977	c.1666G>C	c.(1666-1668)Ggt>Cgt	p.G556R	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Splice_Site_p.G556R|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000244049.3_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	556					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GAGAAATTGGGGTGAGTTTTT	0.433																																																0													34	33	33					20																	58569544		2203	4300	6503	SO:0001630	splice_region_variant	60437			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1666+1G>C	chr20.hg19:g.58569544G>C			A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	hg19		.	.	.	.	.	.	.	.	.	.	G	16.64	3.180551	0.57800	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.72835	-0.69;-0.69	4.35	4.35	0.52113	Cadherin-like (1);	0.391569	0.24463	N	0.038317	D	0.83436	0.5254	M	0.74258	2.255	0.49687	D	0.999815	D;D	0.89917	0.999;1.0	D;D	0.85130	0.973;0.997	D	0.86131	0.1575	10	0.87932	D	0	.	15.6637	0.77209	0.0:0.0:1.0:0.0	.	556;556	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	R	556	ENSP00000244047:G556R;ENSP00000339390:G556R	ENSP00000244047:G556R	G	+	1	0	CDH26	58002939	1.000000	0.71417	0.388000	0.26195	0.582000	0.36321	5.190000	0.65104	1.954000	0.56735	0.655000	0.94253	GGT		0.433	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980	Missense_Mutation	C	58569544	G	C	58569544	5	2	78	1	0	0	0	0	0	0	1	0	3112	1246	43	4	1708	4	CDH26	20	58569544	Splice_Site	SNP	G	TCGA-A4-8517-01A-11D-2396-08	10940925	58569544	4455976	72	5324											
NCAM2	4685	hgsc.bcm.edu	37	21	22849618	22849618	+	Missense_Mutation	SNP	A	A	G	rs201923816		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr21:22849618A>G	ENST00000400546.1	+	15	2152	c.1903A>G	c.(1903-1905)Aag>Gag	p.K635E	NCAM2_ENST00000284894.7_Missense_Mutation_p.K493E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	635	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ACAGAAAGATAAGGAAGACCA	0.338																																																0													80	74	76					21																	22849618		1822	4085	5907	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1903A>G	chr21.hg19:g.22849618A>G	ENSP00000383392:p.Lys635Glu		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	hg19	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069133	0.76301	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.51574	0.7;0.7	5.8	5.8	0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	N	0.15975	0.35	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.81914	0.995;0.995	T	0.58912	-0.7552	10	0.56958	D	0.05	-27.6898	14.9715	0.71238	1.0:0.0:0.0:0.0	.	493;635	B7Z5K2;O15394	.;NCAM2_HUMAN	E	635;493	ENSP00000383392:K635E;ENSP00000284894:K493E	ENSP00000284894:K493E	K	+	1	0	NCAM2	21771489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.306000	0.72810	2.213000	0.71641	0.528000	0.53228	AAG		0.338	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		G	22849618	A	G	22849618	3	3	78	1	0	0	0	0	1	0	0	0	10205	363	13	3	1961	3	NCAM2	21	22849618	Missense_Mutation	SNP	A	TCGA-A4-8517-01A-11D-2396-08		22849618	25280277	73	5325											
MRPL40	64976	hgsc.bcm.edu	37	22	19423455	19423455	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr22:19423455G>T	ENST00000333130.3	+	4	1244	c.591G>T	c.(589-591)aaG>aaT	p.K197N	MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	197					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					ACATCACCAAGGTGTACACAC	0.502																																																0													116	106	109					22																	19423455		2203	4300	6503	SO:0001583	missense	64976			AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"Mitochondrial ribosomal proteins / large subunits"	14491	protein-coding gene	gene with protein product		605089	"nuclear localization signal deleted in velocardiofacial syndrome"	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.591G>T	chr22.hg19:g.19423455G>T	ENSP00000333401:p.Lys197Asn		B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	hg19	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392258	0.42410	.	.	ENSG00000185608	ENST00000333130	T	0.52983	0.64	5.53	2.23	0.28157	.	0.102989	0.64402	D	0.000005	T	0.66247	0.2770	M	0.85542	2.76	0.45502	D	0.998462	D	0.76494	0.999	D	0.77557	0.99	T	0.67473	-0.5662	10	0.72032	D	0.01	-26.3156	7.4919	0.27466	0.4243:0.0:0.5757:0.0	.	197	Q9NQ50	RM40_HUMAN	N	197	ENSP00000333401:K197N	ENSP00000333401:K197N	K	+	3	2	MRPL40	17803455	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	1.675000	0.37555	0.898000	0.36418	0.655000	0.94253	AAG		0.502	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		T	19423455	G	T	19423455	3	4	78	1	0	0	0	0	1	0	0	0	9806	991	35	4	605	4	MRPL40	22	19423455	Missense_Mutation	SNP	G	TCGA-A4-8517-01A-11D-2396-08		19423455	31881111	74	5326											
KLHL22	84861	hgsc.bcm.edu	37	22	20796432	20796432	+	Silent	SNP	G	G	C	rs149300605		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr22:20796432G>C	ENST00000328879.4	-	7	1989	c.1833C>G	c.(1831-1833)gcC>gcG	p.A611A	KLHL22_ENST00000440659.2_Silent_p.A468A	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	611					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGTCCGGGTCGGCCTGGCTGC	0.647																																																0													29	30	30					22																	20796432		2203	4300	6503	SO:0001819	synonymous_variant	84861				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1833C>G	chr22.hg19:g.20796432G>C			A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	hg19	CCDS13780.1																																																																																				0.647	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		C	20796432	G	C	20796432	2	2	78	1	0	0	0	0	0	0	0	1	8379	1103	39	4		4	KLHL22	22	20796432	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08	1372977	20796432	30508134	75	5327											
CELSR1	9620	hgsc.bcm.edu	37	22	46765598	46765598	+	Silent	SNP	A	A	G			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr22:46765598A>G	ENST00000262738.3	-	26	7862	c.7863T>C	c.(7861-7863)gcT>gcC	p.A2621A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2621					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGATTATAACAGCTCCGATGG	0.627																																																0													55	54	54					22																	46765598		2203	4300	6503	SO:0001819	synonymous_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7863T>C	chr22.hg19:g.46765598A>G			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	hg19	CCDS14076.1																																																																																				0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46765598	A	G	46765598	2	3	78	1	0	0	0	0	0	0	0	1	3223	175	7	3		3	CELSR1	22	46765598	Silent	SNP	A	TCGA-A4-8517-01A-11D-2396-08	25969166	46765598	4538968	76	5328											
MIOX	55586	hgsc.bcm.edu	37	22	50926723	50926723	+	Silent	SNP	G	G	T			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chr22:50926723G>T	ENST00000216075.6	+	5	434	c.360G>T	c.(358-360)ggG>ggT	p.G120G	MIOX_ENST00000395732.3_Silent_p.G120G|MIOX_ENST00000395733.3_Missense_Mutation_p.G131V	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	120					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCTCGTCGGGCTCCTGCACG	0.652																																																0													57	55	56					22																	50926723		2203	4300	6503	SO:0001819	synonymous_variant	55586			AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"kidney-specific protein 32"	606774	"aldehyde reductase (aldose reductase) like 6"	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.360G>T	chr22.hg19:g.50926723G>T			Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Silent	SNP	ENST00000216075.6	hg19	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277251	0.40294	.	.	ENSG00000100253	ENST00000395733	.	.	.	4.4	2.3	0.28687	.	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	.	.	.	0.80722	D	1	B	0.20671	0.047	B	0.17979	0.02	T	0.37150	-0.9718	8	0.87932	D	0	-5.0893	3.2524	0.06819	0.2255:0.0:0.5677:0.2069	.	131	Q9UGB7-2	.	V	131	.	ENSP00000379082:G131V	G	+	2	0	MIOX	49273589	0.998000	0.40836	0.980000	0.43619	0.906000	0.53458	0.593000	0.23999	0.468000	0.27243	0.436000	0.28706	GGC		0.652	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584		T	50926723	G	T	50926723	2	4	78	1	0	0	0	0	0	0	0	1	9592	1190	42	4		4	MIOX	22	50926723	Silent	SNP	G	TCGA-A4-8517-01A-11D-2396-08	4161125	50926723	377843	77	5329											
WWC3	55841	hgsc.bcm.edu	37	X	10094307	10094307	+	Frame_Shift_Del	DEL	C	C	-	rs199701428		TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chrX:10094307delC	ENST00000380861.4	+	15	2458	c.2067delC	c.(2065-2067)tacfs	p.Y689fs	WWC3_ENST00000454666.1_Frame_Shift_Del_p.Y689fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	689	C2.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TTCAGTTATACGTGTGTTCAG	0.572																																																0													114	95	101					X																	10094307		2203	4300	6503	SO:0001589	frameshift_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2067delC	chrX.hg19:g.10094307delC	ENSP00000370242:p.Tyr689fs		A8KA96|Q659C1|Q9BTQ1	Frame_Shift_Del	DEL	ENST00000380861.4	hg19	CCDS14136.1																																																																																				0.572	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		-	10094307	C	-	10094307	7	5	78	1	0	1	0	1	0	0	0	0	17418	547	19	0	2121	0	WWC3	23	10094307	Frame_Shift_Del	DEL	C	TCGA-A4-8517-01A-11D-2396-08		10094307	145176253	78	5330											
THOC2	57187	hgsc.bcm.edu	37	X	122755201	122755201	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8517-01A-11D-2396-08	TCGA-A4-8517-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d231371b-1540-4abd-bde7-41846fb8a9a1	4ccb3bcc-4c0f-4047-97fc-0515f0cf05b5	g.chrX:122755201T>A	ENST00000245838.8	-	31	4054	c.4023A>T	c.(4021-4023)aaA>aaT	p.K1341N	THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Missense_Mutation_p.K1226N|THOC2_ENST00000355725.4_Missense_Mutation_p.K1341N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1341	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGGTCTTAAATTTCTCATCTT	0.373																																																0													259	229	239					X																	122755201		1871	4088	5959	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4023A>T	chrX.hg19:g.122755201T>A	ENSP00000245838:p.Lys1341Asn		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	hg19	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.36|12.36	1.915943|1.915943	0.33815|0.33815	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000441692	T;T;T|.	0.22539|.	1.95;1.95;1.95|.	5.32|5.32	4.16|4.16	0.48862|0.48862	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.51126|0.51126	0.1656|0.1656	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999974|0.999974	P|.	0.43094|.	0.799|.	B|.	0.42692|.	0.395|.	T|T	0.40194|0.40194	-0.9576|-0.9576	9|5	.|.	.|.	.|.	-12.8428|-12.8428	8.5327|8.5327	0.33344|0.33344	0.0:0.2225:0.0:0.7775|0.0:0.2225:0.0:0.7775	.|.	1341|.	Q8NI27|.	THOC2_HUMAN|.	N|I	1341;1341;1226|109	ENSP00000245838:K1341N;ENSP00000347959:K1341N;ENSP00000419795:K1226N|.	.|.	K|N	-|-	3|2	2|0	THOC2|THOC2	122582882|122582882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	1.873000|1.873000	0.39558|0.39558	0.776000|0.776000	0.33473|0.33473	0.486000|0.486000	0.48141|0.48141	AAA|AAT		0.373	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			A	122755201	T	A	122755201	3	1	78	1	0	0	0	0	1	0	0	0	15870	1490	52	5	790	5	THOC2	23	122755201	Missense_Mutation	SNP	T	TCGA-A4-8517-01A-11D-2396-08	112660894	122755201	32515359	79	5331											
KCNC4	3749	hgsc.bcm.edu	37	1	110774916	110774916	+	Silent	SNP	G	G	A			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr1:110774916G>A	ENST00000369787.3	+	4	1920	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L	KCNC4_ENST00000438661.2_Intron|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	631					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGGGACTCTGTTCCTGCCAC	0.562																																																0													74	54	61					1																	110774916		2203	4300	6503	SO:0001819	synonymous_variant	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1893G>A	chr1.hg19:g.110774916G>A			Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	hg19	CCDS821.1																																																																																				0.562	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		A	110774916	G	A	110774916	2	1	79	1	0	0	0	0	0	0	0	1	8019	1364	48	2		2	KCNC4	1	110774916	Silent	SNP	G	TCGA-A4-8518-01A-11D-2396-08		110774916	138475705	1	5332											
NBPF14	25832	hgsc.bcm.edu	37	1	148015634	148015634	+	Missense_Mutation	SNP	T	T	C	rs200156420	byFrequency	TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr1:148015634T>C	ENST00000369219.1	-	8	1013	c.997A>G	c.(997-999)Aac>Gac	p.N333D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	333	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.			N -> D (in Ref. 3; AAO15399). {ECO:0000305}.		cytoplasm (GO:0005737)		p.N333D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCATCCATGTTAACAGCCAAG	0.463													-|||	445	0.0888578	0.146	0.0778	5008	,	,		13640	0.0675		0.0408	False		,,,				2504	0.091															1	Substitution - Missense(1)	skin(1)											4	3	4					1																	148015634		718	1612	2330	SO:0001583	missense	25832			AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.997A>G	chr1.hg19:g.148015634T>C	ENSP00000358221:p.Asn333Asp		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	hg19		.	.	.	.	.	.	.	.	.	.	-	0	-2.747081	0.00086	.	.	ENSG00000122497	ENST00000369219	T	0.04234	3.67	.	.	.	DUF1220 (2);	.	.	.	.	T	0.00210	0.0006	N	0.00028	-2.63	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43686	-0.9376	7	0.02654	T	1	.	.	.	.	.	333	Q5TI25	NBPFE_HUMAN	D	333	ENSP00000358221:N333D	ENSP00000358221:N333D	N	-	1	0	NBPF14	146482258	0.402000	0.25311	0.002000	0.10522	0.000000	0.00434	-1.348000	0.02629	0.357000	0.24183	0.000000	0.15137	AAC		0.463	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		C	148015634	T	C	148015634	3	2	79	1	0	0	0	0	1	0	0	0	10196	1754	61	3	1828	3	NBPF14	1	148015634	Missense_Mutation	SNP	T	TCGA-A4-8518-01A-11D-2396-08	37240718	148015634	101234987	2	5333											
LINGO4	339398	hgsc.bcm.edu	37	1	151774638	151774638	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr1:151774638C>G	ENST00000368820.3	-	2	1480	c.543G>C	c.(541-543)aaG>aaC	p.K181N		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	181						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGTGCTCAACTTGGCTAGCC	0.612																																																0													37	43	41					1																	151774638		2203	4299	6502	SO:0001583	missense	339398				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.543G>C	chr1.hg19:g.151774638C>G	ENSP00000357810:p.Lys181Asn			Missense_Mutation	SNP	ENST00000368820.3	hg19	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	C	3.774	-0.047078	0.07407	.	.	ENSG00000213171	ENST00000368820	T	0.54071	0.59	5.13	2.23	0.28157	.	0.401034	0.21238	N	0.077871	T	0.09024	0.0223	N	0.05351	-0.065	0.20926	N	0.999823	B	0.06786	0.001	B	0.06405	0.002	T	0.39375	-0.9617	10	0.07482	T	0.82	.	8.7903	0.34845	0.0:0.748:0.0:0.252	.	181	Q6UY18	LIGO4_HUMAN	N	181	ENSP00000357810:K181N	ENSP00000357810:K181N	K	-	3	2	LINGO4	150041262	0.037000	0.19845	0.017000	0.16124	0.866000	0.49608	-0.213000	0.09305	0.328000	0.23435	0.462000	0.41574	AAG		0.612	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		G	151774638	C	G	151774638	3	3	79	1	0	0	0	0	1	0	0	0	8819	564	20	4	1242	4	LINGO4	1	151774638	Missense_Mutation	SNP	C	TCGA-A4-8518-01A-11D-2396-08	3759004	151774638	97475983	3	5334											
SLC16A14	151473	hgsc.bcm.edu	37	2	230910735	230910735	+	Silent	SNP	G	G	A			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr2:230910735G>A	ENST00000295190.4	-	4	1565	c.1107C>T	c.(1105-1107)atC>atT	p.I369I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	369						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.I369I(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGACGCCCAGGATCACTTTTC	0.433																																																1	Substitution - coding silent(1)	ovary(1)											98	87	91					2																	230910735		2203	4300	6503	SO:0001819	synonymous_variant	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1107C>T	chr2.hg19:g.230910735G>A			A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	hg19	CCDS2473.1																																																																																				0.433	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		A	230910735	G	A	230910735	2	1	79	1	0	0	0	0	0	0	0	1	14413	1164	41	2		2	SLC16A14	2	230910735	Silent	SNP	G	TCGA-A4-8518-01A-11D-2396-08		230910735	12288638	4	5335											
USP19	10869	hgsc.bcm.edu	37	3	49148785	49148785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr3:49148785delC	ENST00000398888.2	-	21	3240	c.2922delG	c.(2920-2922)gggfs	p.G974fs	USP19_ENST00000398898.2_Frame_Shift_Del_p.G1014fs|USP19_ENST00000434032.2_Frame_Shift_Del_p.G1075fs|USP19_ENST00000453664.1_Frame_Shift_Del_p.G1065fs|USP19_ENST00000398896.1_Frame_Shift_Del_p.G782fs|USP19_ENST00000398892.3_Frame_Shift_Del_p.G1014fs|USP19_ENST00000417901.1_Frame_Shift_Del_p.G1077fs	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	974	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATGCTGGTACCCAGGCACAG	0.532																																																0													101	106	105					3																	49148785		2047	4201	6248	SO:0001589	frameshift_variant	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2922delG	chr3.hg19:g.49148785delC	ENSP00000381863:p.Gly974fs		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Frame_Shift_Del	DEL	ENST00000398888.2	hg19	CCDS43090.1																																																																																				0.532	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		-	49148785	C	-	49148785	7	5	79	1	0	1	0	1	0	0	0	0	17055	494	18	0	1058	0	USP19	3	49148785	Frame_Shift_Del	DEL	C	TCGA-A4-8518-01A-11D-2396-08		49148785	148873645	5	5336											
KIAA2018	205717	hgsc.bcm.edu	37	3	113376113	113376113	+	Silent	SNP	C	C	T	rs62265537|rs59601191|rs112313093|rs59990801|rs397990842|rs10606566		TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr3:113376113C>T	ENST00000478658.1	-	5	4433	c.4416G>A	c.(4414-4416)caG>caA	p.Q1472Q	KIAA2018_ENST00000316407.4_Silent_p.Q1472Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1472	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gttgctgttgctgctgctgct	0.502																																																0													68	71	70					3																	113376113		2188	4274	6462	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4416G>A	chr3.hg19:g.113376113C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	hg19	CCDS43133.1																																																																																				0.502	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113376113	C	T	113376113	2	4	79	1	0	0	0	0	0	0	0	1	8270	796	28	2		2	KIAA2018	3	113376113	Silent	SNP	C	TCGA-A4-8518-01A-11D-2396-08	64227328	113376113	84646317	6	5337											
LMLN	89782	hgsc.bcm.edu	37	3	197687183	197687183	+	Missense_Mutation	SNP	T	T	A	rs375365578		TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr3:197687183T>A	ENST00000330198.4	+	1	113	c.91T>A	c.(91-93)Tgg>Agg	p.W31R	IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000265239.6_5'Flank|LMLN_ENST00000482695.1_Missense_Mutation_p.L19Q|LMLN_ENST00000332636.5_Missense_Mutation_p.L19Q|LMLN_ENST00000420910.2_Missense_Mutation_p.W31R	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	31					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCGGTGGCGCTGGAGCGGGTC	0.687																																																0								T	ARG/TRP,ARG/TRP	1,4405	2.1+/-5.4	0,1,2202	30	36	34		91,91	-0.9	0	3		34	0,8596		0,0,4298	no	missense,missense	LMLN	NM_033029.3,NM_001136049.2	101,101	0,1,6500	AA,AT,TT		0.0,0.0227,0.0077	benign,benign	31/656,31/693	197687183	1,13001	2203	4298	6501	SO:0001583	missense	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.91T>A	chr3.hg19:g.197687183T>A	ENSP00000328829:p.Trp31Arg		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	hg19	CCDS3332.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.21|12.21	1.869215|1.869215	0.32977|0.32977	2.27E-4|2.27E-4	0.0|0.0	ENSG00000185621|ENSG00000185621	ENST00000482695;ENST00000332636|ENST00000330198;ENST00000420910	T;T|T;T	0.47528|0.41400	0.85;0.84|1.01;1.0	4.02|4.02	-0.95|-0.95	0.10372|0.10372	.|.	.|0.745603	.|0.11975	.|N	.|0.511342	T|T	0.22322|0.22322	0.0538|0.0538	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|B;B	0.24963|0.02656	0.115;0.115|0.0;0.0	B;B|B;B	0.28709|0.04013	0.093;0.093|0.0;0.001	T|T	0.24512|0.24512	-1.0158|-1.0158	9|10	0.13853|0.18276	T|T	0.58|0.48	-0.5349|-0.5349	7.0655|7.0655	0.25149|0.25149	0.0:0.4606:0.0:0.5394|0.0:0.4606:0.0:0.5394	.|.	19;19|31;31	F8WCE5;Q96KR4-2|Q96KR4;F8WB28	.;.|LMLN_HUMAN;.	Q|R	19|31	ENSP00000418324:L19Q;ENSP00000328611:L19Q|ENSP00000328829:W31R;ENSP00000410926:W31R	ENSP00000328611:L19Q|ENSP00000328829:W31R	L|W	+|+	2|1	0|0	LMLN|LMLN	199171580|199171580	0.031000|0.031000	0.19500|0.19500	0.003000|0.003000	0.11579|0.11579	0.735000|0.735000	0.41995|0.41995	0.079000|0.079000	0.14782|0.14782	-0.032000|-0.032000	0.13758|0.13758	0.374000|0.374000	0.22700|0.22700	CTG|TGG		0.687	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		A	197687183	T	A	197687183	3	1	79	1	0	0	0	0	1	0	0	0	8849	1580	55	5	93	5	LMLN	3	197687183	Missense_Mutation	SNP	T	TCGA-A4-8518-01A-11D-2396-08	84311070	197687183	335247	7	5338											
TBC1D9B	23061	hgsc.bcm.edu	37	5	179320253	179320253	+	Silent	SNP	C	C	G			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr5:179320253C>G	ENST00000356834.3	-	5	829	c.792G>C	c.(790-792)ctG>ctC	p.L264L	TBC1D9B_ENST00000355235.3_Silent_p.L264L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	264						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGCCTAGGCAGGGCCTTGT	0.637																																																0													48	48	48					5																	179320253		2203	4300	6503	SO:0001819	synonymous_variant	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.792G>C	chr5.hg19:g.179320253C>G			D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	hg19	CCDS43408.1																																																																																				0.637	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		G	179320253	C	G	179320253	2	3	79	1	0	0	0	0	0	0	0	1	15633	697	25	4		4	TBC1D9B	5	179320253	Silent	SNP	C	TCGA-A4-8518-01A-11D-2396-08		179320253	1595007	8	5339											
KCNK5	8645	hgsc.bcm.edu	37	6	39161945	39161945	+	Splice_Site	SNP	C	C	T			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr6:39161945C>T	ENST00000359534.3	-	4	972	c.634G>A	c.(634-636)Ggt>Agt	p.G212S		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	212					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGGGACTCACCGGCCACAAAG	0.542																																																0													92	79	84					6																	39161945		2203	4300	6503	SO:0001630	splice_region_variant	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.634+1G>A	chr6.hg19:g.39161945C>T			B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	hg19	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402436	0.96030	.	.	ENSG00000164626	ENST00000359534	T	0.30448	1.53	5.68	5.68	0.88126	Ion transport 2 (1);	0.101608	0.64402	D	0.000002	T	0.39911	0.1096	L	0.52759	1.655	0.80722	D	1	P	0.46512	0.879	P	0.58820	0.846	T	0.01909	-1.1249	9	.	.	.	.	19.7891	0.96450	0.0:1.0:0.0:0.0	.	212	O95279	KCNK5_HUMAN	S	212	ENSP00000352527:G212S	.	G	-	1	0	KCNK5	39269923	1.000000	0.71417	0.981000	0.43875	0.542000	0.35054	7.747000	0.85070	2.692000	0.91855	0.561000	0.74099	GGT		0.542	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740	Missense_Mutation	T	39161945	C	T	39161945	5	4	79	1	0	0	0	0	0	0	1	0	8071	666	23	1	873	1	KCNK5	6	39161945	Splice_Site	SNP	C	TCGA-A4-8518-01A-11D-2396-08		39161945	131953122	9	5340											
TDRD6	221400	hgsc.bcm.edu	37	6	46658247	46658247	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr6:46658247C>G	ENST00000316081.6	+	1	2382	c.2382C>G	c.(2380-2382)aaC>aaG	p.N794K	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.N794K	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	794					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGACCAGGAACATACAAGGAC	0.428																																																0													81	83	82					6																	46658247		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2382C>G	chr6.hg19:g.46658247C>G	ENSP00000346065:p.Asn794Lys		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	hg19	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444596	0.25987	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12879	2.64;2.64	5.75	3.93	0.45458	Maternal tudor protein (1);	0.375482	0.34178	N	0.004185	T	0.07143	0.0181	L	0.41356	1.27	0.19575	N	0.999962	P;P	0.40834	0.548;0.73	B;P	0.51415	0.439;0.669	T	0.31024	-0.9958	10	0.24483	T	0.36	-13.6225	7.3207	0.26526	0.1058:0.6679:0.1027:0.1236	.	794;794	F5H5M3;O60522	.;TDRD6_HUMAN	K	794	ENSP00000443299:N794K;ENSP00000346065:N794K	ENSP00000346065:N794K	N	+	3	2	TDRD6	46766206	0.072000	0.21174	0.342000	0.25602	0.870000	0.49936	0.453000	0.21811	0.342000	0.23796	-0.797000	0.03246	AAC		0.428	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		G	46658247	C	G	46658247	3	3	79	1	0	0	0	0	1	0	0	0	15739	477	17	4	2384	4	TDRD6	6	46658247	Missense_Mutation	SNP	C	TCGA-A4-8518-01A-11D-2396-08	7496302	46658247	124456820	10	5341											
PREX2	80243	hgsc.bcm.edu	37	8	68995502	68995502	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr8:68995502A>T	ENST00000288368.4	+	18	2183	c.1906A>T	c.(1906-1908)Att>Ttt	p.I636F	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	636	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGGGAAAAAGATTTTTGCTAT	0.318																																																0													93	94	93					8																	68995502		2203	4300	6503	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1906A>T	chr8.hg19:g.68995502A>T	ENSP00000288368:p.Ile636Phe		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	hg19	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.358895	0.82353	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.37235	1.21	5.77	5.77	0.91146	PDZ/DHR/GLGF (3);	0.144361	0.50627	D	0.000115	T	0.50718	0.1632	L	0.52573	1.65	0.54753	D	0.999989	P;P;P	0.52692	0.906;0.955;0.906	P;P;P	0.57101	0.578;0.781;0.813	T	0.51553	-0.8691	10	0.87932	D	0	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	636;636;636	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	F	636	ENSP00000288368:I636F	ENSP00000288368:I636F	I	+	1	0	PREX2	69158056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.744000	0.55112	2.326000	0.78906	0.533000	0.62120	ATT		0.318	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		T	68995502	A	T	68995502	3	4	79	1	0	0	0	0	1	0	0	0	12482	333	12	5	1976	5	PREX2	8	68995502	Missense_Mutation	SNP	A	TCGA-A4-8518-01A-11D-2396-08		68995502	77368520	11	5342											
KDM4C	23081	hgsc.bcm.edu	37	9	7015904	7015904	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr9:7015904G>A	ENST00000381309.3	+	15	2799	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	KDM4C_ENST00000442236.2_Missense_Mutation_p.R490Q|KDM4C_ENST00000428870.2_Missense_Mutation_p.R432Q|KDM4C_ENST00000381306.3_Missense_Mutation_p.R745Q|KDM4C_ENST00000535193.1_Missense_Mutation_p.R767Q|KDM4C_ENST00000543771.1_Missense_Mutation_p.R745Q|KDM4C_ENST00000536108.1_Missense_Mutation_p.R564Q	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	745					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTGTGTGCCCGGTGCAAAAGA	0.403																																																0													210	199	203					9																	7015904		2203	4300	6503	SO:0001583	missense	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2234G>A	chr9.hg19:g.7015904G>A	ENSP00000370710:p.Arg745Gln		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	hg19	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945619	0.73672	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870;ENST00000420847	T;T;T;T;T;T;T;D	0.98914	-0.04;-0.04;2.21;-0.04;-0.04;1.79;-0.04;-5.23	5.37	4.45	0.53987	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.122378	0.56097	D	0.000021	D	0.98785	0.9591	M	0.70595	2.14	0.58432	D	0.999998	D;D;D;P;D	0.89917	1.0;1.0;0.975;0.95;0.991	D;D;B;P;B	0.70227	0.968;0.966;0.424;0.496;0.446	D	0.98698	1.0699	10	0.72032	D	0.01	.	13.8091	0.63252	0.0743:0.0:0.9257:0.0	.	490;745;767;745;745	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	Q	767;745;745;745;490;564;432;89	ENSP00000442382:R767Q;ENSP00000445427:R745Q;ENSP00000370710:R745Q;ENSP00000370707:R745Q;ENSP00000409353:R490Q;ENSP00000440656:R564Q;ENSP00000405739:R432Q;ENSP00000400127:R89Q	ENSP00000370707:R745Q	R	+	2	0	KDM4C	7005904	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.606000	0.74159	2.654000	0.90174	0.591000	0.81541	CGG		0.403	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		A	7015904	G	A	7015904	3	1	79	1	0	0	0	0	1	0	0	0	8132	1116	39	1	2358	1	KDM4C	9	7015904	Missense_Mutation	SNP	G	TCGA-A4-8518-01A-11D-2396-08		7015904	134197527	12	5343											
MUC5B	727897	hgsc.bcm.edu	37	11	1258389	1258389	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr11:1258389T>G	ENST00000529681.1	+	25	3350	c.3292T>G	c.(3292-3294)Tcc>Gcc	p.S1098A	MUC5B_ENST00000447027.1_Missense_Mutation_p.S1101A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1098	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCCTGCCGCTCCCAGGTGGG	0.682																																																0													10	15	13					11																	1258389		1897	4084	5981	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3292T>G	chr11.hg19:g.1258389T>G	ENSP00000436812:p.Ser1098Ala		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	T	5.715	0.316511	0.10845	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76839	-1.05;-1.05	4.38	-4.2	0.03823	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.59473	0.2196	N	0.10645	0.015	0.27479	N	0.952642	B;P;P	0.48089	0.026;0.905;0.905	B;P;P	0.47376	0.027;0.545;0.545	T	0.57613	-0.7781	9	0.87932	D	0	.	6.1245	0.20172	0.0:0.2029:0.3546:0.4425	.	1098;1791;1101	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	A	1098;1101;1099;1168	ENSP00000436812:S1098A;ENSP00000415793:S1101A	ENSP00000343037:S1099A	S	+	1	0	MUC5B	1214965	0.000000	0.05858	0.074000	0.20217	0.008000	0.06430	-0.169000	0.09911	-0.576000	0.05974	-0.648000	0.03929	TCC		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1258389	T	G	1258389	3	3	79	1	0	0	0	0	1	0	0	0	9981	1551	54	5	3399	5	MUC5B	11	1258389	Missense_Mutation	SNP	T	TCGA-A4-8518-01A-11D-2396-08		1258389	133748127	13	5344											
MRVI1	10335	hgsc.bcm.edu	37	11	10626061	10626061	+	Missense_Mutation	SNP	C	C	G	rs374023004		TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr11:10626061C>G	ENST00000436272.1	-	12	1631	c.1553G>C	c.(1552-1554)aGa>aCa	p.R518T	MRVI1_ENST00000531107.1_Missense_Mutation_p.R537T|MRVI1_ENST00000534266.2_Missense_Mutation_p.R230T|MRVI1_ENST00000558540.1_Missense_Mutation_p.R230T|MRVI1_ENST00000423302.2_Missense_Mutation_p.R545T|MRVI1_ENST00000424001.1_Missense_Mutation_p.R230T|MRVI1_ENST00000527509.2_Missense_Mutation_p.R454T|MRVI1_ENST00000541483.1_Missense_Mutation_p.R339T|MRVI1_ENST00000545852.1_Missense_Mutation_p.R230T|MRVI1_ENST00000421747.1_Missense_Mutation_p.R536T|MRVI1_ENST00000552103.1_Missense_Mutation_p.R454T|MRVI1_ENST00000547195.1_Missense_Mutation_p.R454T|LYVE1_ENST00000531706.1_Intron			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	518	Interaction with ITPR1. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCTGTCATTTCTAAAGGCCAA	0.488																																																0													173	166	168					11																	10626061		1964	4161	6125	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1553G>C	chr11.hg19:g.10626061C>G	ENSP00000412229:p.Arg518Thr		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	hg19		.	.	.	.	.	.	.	.	.	.	C	27.5	4.839467	0.91117	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.87578	0.99;0.998;0.998;0.997	T	0.13980	-1.0489	10	0.56958	D	0.05	-13.6185	19.0062	0.92852	0.0:1.0:0.0:0.0	.	339;518;537;536	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	T	536;519;518;454;454;230;230;545;339;537;454	ENSP00000414598:R536T;ENSP00000412229:R518T;ENSP00000448278:R454T;ENSP00000446764:R454T;ENSP00000441971:R230T;ENSP00000401205:R230T;ENSP00000412130:R545T;ENSP00000437784:R339T;ENSP00000432436:R537T;ENSP00000432067:R454T	ENSP00000307885:R519T	R	-	2	0	MRVI1	10582637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.538000	0.67193	2.553000	0.86117	0.563000	0.77884	AGA		0.488	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		G	10626061	C	G	10626061	3	3	79	1	0	0	0	0	1	0	0	0	9855	913	32	4	1140	4	MRVI1	11	10626061	Missense_Mutation	SNP	C	TCGA-A4-8518-01A-11D-2396-08	9367672	10626061	124380455	14	5345											
ANAPC7	51434	hgsc.bcm.edu	37	12	110813921	110813921	+	Silent	SNP	T	T	C			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr12:110813921T>C	ENST00000455511.3	-	10	1560	c.1560A>G	c.(1558-1560)gtA>gtG	p.V520V	ANAPC7_ENST00000450008.2_Silent_p.V520V|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	520					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CATTGACAGCTACAAGGAAAT	0.498																																																0													141	119	126					12																	110813921		2203	4300	6503	SO:0001819	synonymous_variant	51434			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1560A>G	chr12.hg19:g.110813921T>C			Q96AC4|Q96GF4|Q9BU24|Q9NT16	Silent	SNP	ENST00000455511.3	hg19	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263642	0.23136	.	.	ENSG00000196510	ENST00000552087	.	.	.	5.55	2.43	0.29744	.	.	.	.	.	T	0.58337	0.2115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50415	-0.8831	4	.	.	.	-22.9206	9.4319	0.38615	0.0:0.3125:0.0:0.6875	.	.	.	.	G	70	.	.	S	-	1	0	ANAPC7	109298304	0.916000	0.31088	1.000000	0.80357	0.998000	0.95712	-0.028000	0.12350	0.179000	0.19938	0.459000	0.35465	AGC		0.498	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		C	110813921	T	C	110813921	2	2	79	1	0	0	0	0	0	0	0	1	606	1509	53	3		3	ANAPC7	12	110813921	Silent	SNP	T	TCGA-A4-8518-01A-11D-2396-08		110813921	23037974	15	5346											
ITGB3	3690	hgsc.bcm.edu	37	17	45361999	45361999	+	Missense_Mutation	SNP	C	C	A	rs202100960		TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr17:45361999C>A	ENST00000559488.1	+	4	568	c.552C>A	c.(550-552)gaC>gaA	p.D184E	ITGB3_ENST00000571680.1_Missense_Mutation_p.D184E|ITGB3_ENST00000560629.1_Missense_Mutation_p.Q173K|ITGB3_ENST00000435993.2_Missense_Mutation_p.D137E	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	184	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CATTTGTGGACAAGCCTGTGT	0.552																																																0													128	134	132					17																	45361999		2203	4300	6503	SO:0001583	missense	3690				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.552C>A	chr17.hg19:g.45361999C>A	ENSP00000452786:p.Asp184Glu		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	hg19	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385128	0.42308	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.98400	-4.91	5.86	4.87	0.63330	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	M	0.66560	2.04	0.80722	D	1	D;D	0.64830	0.994;0.962	D;D	0.76575	0.988;0.954	D	0.97929	1.0319	10	0.02654	T	1	.	11.3787	0.49743	0.0:0.9067:0.0:0.0933	.	184;184	P05106;Q2YFE1	ITB3_HUMAN;.	E	184;137	ENSP00000407801:D137E	ENSP00000262017:D184E	D	+	3	2	C17orf57	42716998	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.226000	0.32563	1.399000	0.46721	0.655000	0.94253	GAC		0.552	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		A	45361999	C	A	45361999	3	1	79	1	0	0	0	0	1	0	0	0	7897	477	17	4	566	4	ITGB3	17	45361999	Missense_Mutation	SNP	C	TCGA-A4-8518-01A-11D-2396-08		45361999	35833211	16	5347											
ZNF99	7652	hgsc.bcm.edu	37	19	22941316	22941316	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chr19:22941316A>C	ENST00000596209.1	-	4	1485	c.1395T>G	c.(1393-1395)ttT>ttG	p.F465L	ZNF99_ENST00000397104.3_Missense_Mutation_p.F374L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAAGGGCTGAAAAATTGCTAA	0.358																																																0																																										SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1395T>G	chr19.hg19:g.22941316A>C	ENSP00000472969:p.Phe465Leu		M0R335	Missense_Mutation	SNP	ENST00000596209.1	hg19	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.908376	0.00508	.	.	ENSG00000213973	ENST00000397104	T	0.07021	3.23	1.28	-2.55	0.06288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42749	-0.9433	9	0.11182	T	0.66	.	4.7313	0.12966	0.5088:0.3226:0.1686:0.0	.	374	A8MXY4	ZNF99_HUMAN	L	374	ENSP00000380293:F374L	ENSP00000380293:F374L	F	-	3	2	ZNF99	22733156	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.098000	0.01347	-1.992000	0.00975	-0.630000	0.03990	TTT		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		C	22941316	A	C	22941316	3	2	79	1	0	0	0	0	1	0	0	0	18209	11	1	5	2002	5	ZNF99	19	22941316	Missense_Mutation	SNP	A	TCGA-A4-8518-01A-11D-2396-08		22941316	36187667	17	5348											
FATE1	89885	hgsc.bcm.edu	37	X	150891105	150891105	+	Nonsense_Mutation	SNP	T	T	G			TCGA-A4-8518-01A-11D-2396-08	TCGA-A4-8518-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f18659a-ddbf-48b6-a0b7-a17bfa7e924c	b2d31124-b2e7-4487-864e-be8baf0a8289	g.chrX:150891105T>G	ENST00000370350.3	+	5	511	c.426T>G	c.(424-426)taT>taG	p.Y142*		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	142						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCTGTATGCAGTCAACC	0.612																																																0													57	64	62					X																	150891105		2203	4298	6501	SO:0001587	stop_gained	89885			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.426T>G	chrX.hg19:g.150891105T>G	ENSP00000359375:p.Tyr142*			Nonsense_Mutation	SNP	ENST00000370350.3	hg19	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329167	0.24167	.	.	ENSG00000147378	ENST00000370350	.	.	.	4.55	-9.11	0.00711	.	2.770910	0.01081	N	0.004990	.	.	.	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	11.7727	2.708	0.05166	0.2388:0.3595:0.2921:0.1096	.	.	.	.	X	142	.	ENSP00000359375:Y142X	Y	+	3	2	FATE1	150641761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.221000	0.00140	-4.843000	0.00030	-1.019000	0.02448	TAT		0.612	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		G	150891105	T	G	150891105	4	3	79	1	0	0	0	0	0	1	0	0	5695	1471	51	5	444	5	FATE1	23	150891105	Nonsense_Mutation	SNP	T	TCGA-A4-8518-01A-11D-2396-08		150891105	4379455	18	5349											
SSU72	29101	hgsc.bcm.edu	37	1	1480325	1480325	+	Silent	SNP	C	C	T	rs138912153		TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:1480325C>T	ENST00000291386.3	-	3	593	c.282G>A	c.(280-282)cgG>cgA	p.R94R		NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	94					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ATCTTTCTGGCCGGGGCTTGA	0.478																																																0													183	192	189					1																	1480325		2203	4300	6503	SO:0001819	synonymous_variant	29101			AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.282G>A	chr1.hg19:g.1480325C>T			Q9BZS6|Q9H933	Silent	SNP	ENST00000291386.3	hg19	CCDS32.1																																																																																				0.478	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		T	1480325	C	T	1480325	2	4	80	1	0	0	0	0	0	0	0	1	15207	726	26	2		2	SSU72	1	1480325	Silent	SNP	C	TCGA-A4-8630-01A-11D-2396-08		1480325	247770296	1	5350											
CELA3B	23436	hgsc.bcm.edu	37	1	22310247	22310247	+	Silent	SNP	C	C	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:22310247C>T	ENST00000337107.6	+	5	442	c.423C>T	c.(421-423)ctC>ctT	p.L141L		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	141	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CCGTCCAGCTCGCCTCACTCC	0.632																																																0													96	77	83					1																	22310247		2203	4300	6503	SO:0001819	synonymous_variant	23436			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"proteinase E", "elastase 1", "cholesterol-binding pancreatic protease", "pancreatic endopeptidase E"		"elastase 3B, pancreatic"	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.423C>T	chr1.hg19:g.22310247C>T			B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Silent	SNP	ENST00000337107.6	hg19	CCDS219.1																																																																																				0.632	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		T	22310247	C	T	22310247	2	4	80	1	0	0	0	0	0	0	0	1	3216	871	31	1		1	CELA3B	1	22310247	Silent	SNP	C	TCGA-A4-8630-01A-11D-2396-08	20829922	22310247	226940374	2	5351											
ASAP3	55616	hgsc.bcm.edu	37	1	23759922	23759922	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:23759922T>A	ENST00000336689.3	-	21	2167	c.2123A>T	c.(2122-2124)gAg>gTg	p.E708V	ASAP3_ENST00000437606.2_Missense_Mutation_p.E699V|ASAP3_ENST00000495646.1_Missense_Mutation_p.E212V	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	708					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						ACCCACCTTCTCTTCCTCATC	0.622																																																0													73	72	72					1																	23759922		2203	4300	6503	SO:0001583	missense	55616			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2123A>T	chr1.hg19:g.23759922T>A	ENSP00000338769:p.Glu708Val		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	hg19	CCDS235.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453556	0.84209	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.56941	1.77;0.43;0.43	4.69	4.69	0.59074	.	3.712730	0.00567	N	0.000291	T	0.65228	0.2671	L	0.27053	0.805	0.58432	D	0.999999	D;D;D;D	0.76494	0.996;0.996;0.981;0.999	P;D;P;P	0.65874	0.892;0.939;0.77;0.905	T	0.50215	-0.8854	10	0.72032	D	0.01	.	13.4102	0.60938	0.0:0.0:0.0:1.0	.	699;577;231;708	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	V	231;212;708;35;699	ENSP00000436150:E212V;ENSP00000338769:E708V;ENSP00000408826:E699V	ENSP00000338769:E708V	E	-	2	0	ASAP3	23632509	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.415000	0.80131	2.104000	0.64026	0.459000	0.35465	GAG		0.622	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		A	23759922	T	A	23759922	3	1	80	1	0	0	0	0	1	0	0	0	1012	1551	54	5	608	5	ASAP3	1	23759922	Missense_Mutation	SNP	T	TCGA-A4-8630-01A-11D-2396-08	1449675	23759922	225490699	3	5352											
CSMD2	114784	hgsc.bcm.edu	37	1	33985175	33985175	+	Silent	SNP	T	T	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:33985175T>A	ENST00000373381.4	-	70	11015	c.10839A>T	c.(10837-10839)acA>acT	p.T3613T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3469						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCATGATGTCTGTGGGCTGGA	0.592																																																0													287	241	256					1																	33985175		2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10839A>T	chr1.hg19:g.33985175T>A			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	hg19																																																																																					0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		A	33985175	T	A	33985175	2	1	80	1	0	0	0	0	0	0	0	1	3947	1567	55	5		5	CSMD2	1	33985175	Silent	SNP	T	TCGA-A4-8630-01A-11D-2396-08	10225253	33985175	215265446	4	5353											
TTF2	8458	hgsc.bcm.edu	37	1	117618867	117618867	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:117618867C>G	ENST00000369466.4	+	6	1385	c.1341C>G	c.(1339-1341)atC>atG	p.I447M		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	447					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCAAACAAATCCAGGAGCTGG	0.478																																																0													101	95	97					1																	117618867		2203	4300	6503	SO:0001583	missense	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1341C>G	chr1.hg19:g.117618867C>G	ENSP00000358478:p.Ile447Met		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	hg19	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109329	0.37242	.	.	ENSG00000116830	ENST00000369466	D	0.88975	-2.45	5.41	-4.64	0.03349	.	0.000000	0.37906	N	0.001883	D	0.84379	0.5459	M	0.70595	2.14	0.34103	D	0.662138	D;D	0.67145	0.996;0.979	P;P	0.61800	0.894;0.857	T	0.77988	-0.2380	10	0.72032	D	0.01	-12.3789	1.4425	0.02357	0.2154:0.3707:0.1077:0.3062	.	447;447	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	M	447	ENSP00000358478:I447M	ENSP00000358478:I447M	I	+	3	3	TTF2	117420390	0.918000	0.31147	0.794000	0.32065	0.071000	0.16799	-0.183000	0.09712	-0.727000	0.04888	0.561000	0.74099	ATC		0.478	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			G	117618867	C	G	117618867	3	3	80	1	0	0	0	0	1	0	0	0	16724	845	30	4	1363	4	TTF2	1	117618867	Missense_Mutation	SNP	C	TCGA-A4-8630-01A-11D-2396-08	83633692	117618867	131631754	5	5354											
SMG5	23381	hgsc.bcm.edu	37	1	156221203	156221203	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:156221203delG	ENST00000361813.5	-	20	2963	c.2819delC	c.(2818-2820)gcafs	p.A940fs	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	940	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAGGCATCTGCATCCTGCCT	0.552																																																0													224	214	217					1																	156221203		2203	4300	6503	SO:0001589	frameshift_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2819delC	chr1.hg19:g.156221203delG	ENSP00000355261:p.Ala940fs		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Frame_Shift_Del	DEL	ENST00000361813.5	hg19	CCDS1137.1																																																																																				0.552	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		-	156221203	G	-	156221203	7	5	80	1	0	1	0	1	0	0	0	0	14802	1319	46	0	243	0	SMG5	1	156221203	Frame_Shift_Del	DEL	G	TCGA-A4-8630-01A-11D-2396-08	38602336	156221203	93029418	6	5355											
C1orf66	51093	hgsc.bcm.edu	37	1	156706431	156706431	+	Silent	SNP	T	T	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:156706431T>C	ENST00000368216.4	+	8	1944	c.1314T>C	c.(1312-1314)caT>caC	p.H438H	RRNAD1_ENST00000476229.1_Missense_Mutation_p.C154R|RRNAD1_ENST00000368218.4_Missense_Mutation_p.C277R|RRNAD1_ENST00000481920.1_Intron|MRPL24_ENST00000478899.1_5'Flank	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	438						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CAGGTTTCCATGCTGAGCTCC	0.532																																																0													132	123	126					1																	156706431		2203	4300	6503	SO:0001819	synonymous_variant	51093			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1314T>C	chr1.hg19:g.156706431T>C			D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	hg19	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319855	0.41096	.	.	ENSG00000143303	ENST00000368218;ENST00000476229	.	.	.	5.87	0.792	0.18625	.	.	.	.	.	T	0.25232	0.0613	.	.	.	0.36802	D	0.885409	B	0.06786	0.001	B	0.01281	0.0	T	0.08638	-1.0712	7	0.87932	D	0	-4.8252	4.626	0.12479	0.0:0.2522:0.2302:0.5176	.	277	Q4VX71	.	R	277;154	.	ENSP00000357201:C277R	C	+	1	0	RRNAD1	154973055	0.996000	0.38824	1.000000	0.80357	0.386000	0.30323	0.158000	0.16422	0.158000	0.19367	0.533000	0.62120	TGC		0.532	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		C	156706431	T	C	156706431	2	2	80	1	0	0	0	0	0	0	0	1	2058	1464	51	3		3	C1orf66	1	156706431	Silent	SNP	T	TCGA-A4-8630-01A-11D-2396-08	485228	156706431	92544190	7	5356											
BAT2L2	23215	hgsc.bcm.edu	37	1	171482181	171482181	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:171482181C>G	ENST00000338920.4	+	3	391	c.154C>G	c.(154-156)Cgg>Ggg	p.R52G	PRRC2C_ENST00000367742.3_Missense_Mutation_p.R54G|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R54G|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R52G	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	52					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CGGTATTTCACGGCGTATGCC	0.403																																																0													115	110	112					1																	171482181		2203	4300	6503	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.154C>G	chr1.hg19:g.171482181C>G	ENSP00000343629:p.Arg52Gly		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	hg19	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993708	0.35131	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.82	2.79	0.32731	BAT2, N-terminal (1);	0.000000	0.43579	D	0.000551	T	0.61110	0.2321	M	0.81341	2.54	0.54753	D	0.999983	D;D;D	0.89917	0.999;1.0;0.98	D;D;P	0.79108	0.943;0.992;0.749	T	0.69665	-0.5084	10	0.87932	D	0	.	15.4227	0.75025	0.5817:0.4183:0.0:0.0	.	52;54;52	Q9Y520-4;E7EPN9;Q9Y520	.;.;PRC2C_HUMAN	G	54;52;52;54;52	ENSP00000375928:R54G;ENSP00000410219:R52G;ENSP00000356716:R54G;ENSP00000343629:R52G	ENSP00000343629:R52G	R	+	1	2	PRRC2C	169748805	0.984000	0.35163	0.999000	0.59377	0.992000	0.81027	2.586000	0.46119	0.312000	0.23038	-0.169000	0.13324	CGG		0.403	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		G	171482181	C	G	171482181	3	3	80	1	0	0	0	0	1	0	0	0	1321	527	19	4	160	4	BAT2L2	1	171482181	Missense_Mutation	SNP	C	TCGA-A4-8630-01A-11D-2396-08	14775750	171482181	77768440	8	5357											
TRIM11	81559	hgsc.bcm.edu	37	1	228584695	228584695	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:228584695G>T	ENST00000284551.6	-	5	1090	c.812C>A	c.(811-813)aCc>aAc	p.T271N	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000493030.2_Missense_Mutation_p.T146N|TRIM11_ENST00000366699.3_Missense_Mutation_p.T271N	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	271	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CCTGCACACGGTCCTCAGCTC	0.627																																																0													85	85	85					1																	228584695		2203	4300	6503	SO:0001583	missense	81559			AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.812C>A	chr1.hg19:g.228584695G>T	ENSP00000284551:p.Thr271Asn		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	hg19	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549179	0.65311	.	.	ENSG00000154370	ENST00000284551;ENST00000366699	T;T	0.06768	3.26;3.26	4.97	4.97	0.65823	B30.2/SPRY domain (1);	0.000000	0.41605	D	0.000853	T	0.19127	0.0459	L	0.41079	1.255	0.34988	D	0.754698	D;D;P	0.89917	1.0;1.0;0.781	D;D;B	0.97110	1.0;1.0;0.248	T	0.11108	-1.0601	10	0.26408	T	0.33	.	14.103	0.65070	0.0:0.0:1.0:0.0	.	270;271;271	Q96F44-3;Q96F44-2;Q96F44	.;.;TRI11_HUMAN	N	271	ENSP00000284551:T271N;ENSP00000355660:T271N	ENSP00000284551:T271N	T	-	2	0	TRIM11	226651318	0.932000	0.31603	0.909000	0.35828	0.546000	0.35178	1.634000	0.37123	2.482000	0.83794	0.313000	0.20887	ACC		0.627	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		T	228584695	G	T	228584695	3	4	80	1	0	0	0	0	1	0	0	0	16492	1261	44	4	602	4	TRIM11	1	228584695	Missense_Mutation	SNP	G	TCGA-A4-8630-01A-11D-2396-08	57102514	228584695	20665926	9	5358											
SLC8A1	6546	hgsc.bcm.edu	37	2	40405590	40405590	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr2:40405590T>C	ENST00000403092.1	-	3	1885	c.1852A>G	c.(1852-1854)Aaa>Gaa	p.K618E	SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.K618E|SLC8A1_ENST00000405901.3_Missense_Mutation_p.K618E|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.K618E|SLC8A1_ENST00000402441.1_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	618	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCTTGTTTTTCTCATACTCC	0.468																																																0													239	235	237					2																	40405590		2203	4300	6503	SO:0001583	missense	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1852A>G	chr2.hg19:g.40405590T>C	ENSP00000384763:p.Lys618Glu		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	hg19	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338174	0.81911	.	.	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.39	5.39	0.77823	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	L	0.52011	1.625	0.80722	D	1	P;D	0.89917	0.917;1.0	P;D	0.91635	0.721;0.999	T	0.50800	-0.8785	10	0.87932	D	0	.	13.3557	0.60627	0.0:0.0:0.0:1.0	.	618;618	F6VPY9;P32418	.;NAC1_HUMAN	E	618	ENSP00000440727:K618E;ENSP00000384763:K618E;ENSP00000385678:K618E;ENSP00000332931:K618E	ENSP00000332931:K618E	K	-	1	0	SLC8A1	40259094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.587000	0.82613	2.028000	0.59812	0.482000	0.46254	AAA		0.468	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		C	40405590	T	C	40405590	3	2	80	1	0	0	0	0	1	0	0	0	14712	1792	62	3	1213	3	SLC8A1	2	40405590	Missense_Mutation	SNP	T	TCGA-A4-8630-01A-11D-2396-08		40405590	202793783	10	5359											
FBXO11	80204	hgsc.bcm.edu	37	2	48049436	48049436	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr2:48049436A>C	ENST00000403359.3	-	13	1695	c.1623T>G	c.(1621-1623)aaT>aaG	p.N541K	FBXO11_ENST00000402508.1_Missense_Mutation_p.N457K|FBXO11_ENST00000316377.4_Missense_Mutation_p.N457K|FBXO11_ENST00000434523.2_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	541					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAATATAGAATTTCCCCTAT	0.343			"Mis, F, D"		DLBCL																																		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											51	51	51					2																	48049436		2202	4298	6500	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1623T>G	chr2.hg19:g.48049436A>C	ENSP00000384823:p.Asn541Lys		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	hg19	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.023026|4.023026	0.75275|0.75275	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000493962|ENST00000402508;ENST00000403359;ENST00000316377	.|D;D;D	.|0.89485	.|-2.52;-1.81;-2.52	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93135|0.93135	0.7814|0.7814	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	.|B	.|0.26258	.|0.145	.|B	.|0.37304	.|0.246	D|D	0.92695|0.92695	0.6170|0.6170	5|10	.|0.66056	.|D	.|0.02	-16.8508|-16.8508	15.4471|15.4471	0.75238|0.75238	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|541	.|Q86XK2	.|FBX11_HUMAN	V|K	333|457;541;457	.|ENSP00000385398:N457K;ENSP00000384823:N541K;ENSP00000323822:N457K	.|ENSP00000323822:N457K	F|N	-|-	1|3	0|2	FBXO11|FBXO11	47902940|47902940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.344000|4.344000	0.59354|0.59354	2.039000|2.039000	0.60335|0.60335	0.533000|0.533000	0.62120|0.62120	TTC|AAT		0.343	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		C	48049436	A	C	48049436	3	2	80	1	0	0	0	0	1	0	0	0	5729	98	4	5	1294	5	FBXO11	2	48049436	Missense_Mutation	SNP	A	TCGA-A4-8630-01A-11D-2396-08	7643846	48049436	195149937	11	5360											
TTN	7273	hgsc.bcm.edu	37	2	179429832	179429834	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr2:179429832_179429834delAAT	ENST00000591111.1	-	276	76326_76328	c.76102_76104delATT	c.(76102-76104)attdel	p.I25368del	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.I18069del|TTN_ENST00000460472.2_In_Frame_Del_p.I17944del|TTN_ENST00000342992.6_In_Frame_Del_p.I24441del|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.I27009del|TTN_ENST00000342175.6_In_Frame_Del_p.I18136del			Q8WZ42	TITIN_HUMAN	titin	25368	Fibronectin type-III 84. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCTCTACAATGTAGTTGCTT	0.443																																																0																																										SO:0001651	inframe_deletion	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76102_76104delATT	chr2.hg19:g.179429832_179429834delAAT	ENSP00000465570:p.Ile25368del		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	In_Frame_Del	DEL	ENST00000591111.1	hg19																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179429834	AAT	-	179429832	7	5	80	1	0	1	0	1	0	0	0	0	16740	126	5	0	27100	0	TTN	2	179429832	In_Frame_Del	DEL	AAT	TCGA-A4-8630-01A-11D-2396-08	131380396	179429832	63769541	12	5361											
VGLL4	10533	hgsc.bcm.edu	37	3	11600049	11600049	+	IGR	SNP	G	G	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr3:11600049G>A	ENST00000354449.3	+	0	4959				VGLL4_ENST00000424529.2_Missense_Mutation_p.S201F|VGLL4_ENST00000404339.1_Missense_Mutation_p.S290F|VGLL4_ENST00000451674.2_Missense_Mutation_p.S205F|VGLL4_ENST00000273038.3_Missense_Mutation_p.S285F|VGLL4_ENST00000413604.1_Missense_Mutation_p.S226F|VGLL4_ENST00000430365.2_Missense_Mutation_p.S291F	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CACAGAGGGGGAGTGACTGTG	0.572																																																0													43	49	47					3																	11600049		2203	4299	6502	SO:0001628	intergenic_variant	9686			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		chr3.hg19:g.11600049G>A			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	hg19	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347047	0.61183	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.60672	0.23;0.26;0.17	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	T	0.77851	-0.2434	10	0.87932	D	0	-39.5652	18.3059	0.90180	0.0:0.0:1.0:0.0	.	291;205;201;290;285	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	F	285;226;205;201;291;290	ENSP00000273038:S285F;ENSP00000404251:S291F;ENSP00000384705:S290F	ENSP00000273038:S285F	S	-	2	0	VGLL4	11575049	1.000000	0.71417	0.967000	0.41034	0.519000	0.34347	7.672000	0.83956	2.321000	0.78463	0.563000	0.77884	TCC		0.572	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		A	11600049	G	A	11600049	1	1	80	0	1	0	0	0	0	0	0	0	17166	1174	41	2		2	VGLL4	3	11600049	IGR	SNP	G	TCGA-A4-8630-01A-11D-2396-08		11600049	186422381	13	5362											
B4GALT4	8702	hgsc.bcm.edu	37	3	118945881	118945881	+	Silent	SNP	C	C	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr3:118945881C>T	ENST00000483209.1	-	4	902	c.261G>A	c.(259-261)caG>caA	p.Q87Q	B4GALT4_ENST00000393765.2_Silent_p.Q87Q|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000471675.1_Silent_p.Q40Q|B4GALT4_ENST00000467604.1_Silent_p.Q87Q|B4GALT4_ENST00000359213.3_Silent_p.Q87Q			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	87					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TGAGCTTGCTCTGGCCTCCTA	0.443																																																0													91	90	90					3																	118945881		2203	4300	6503	SO:0001819	synonymous_variant	8702			AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"Beta 4-glycosyltransferases"	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.261G>A	chr3.hg19:g.118945881C>T			Q68D68|Q9BSW3|Q9C078	Silent	SNP	ENST00000483209.1	hg19	CCDS2986.1																																																																																				0.443	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		T	118945881	C	T	118945881	2	4	80	1	0	0	0	0	0	0	0	1	1273	912	32	2		2	B4GALT4	3	118945881	Silent	SNP	C	TCGA-A4-8630-01A-11D-2396-08	107345832	118945881	79076549	14	5363											
ITGB5	3693	hgsc.bcm.edu	37	3	124487860	124487860	+	Splice_Site	SNP	C	C	T	rs375122712		TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr3:124487860C>T	ENST00000296181.4	-	12	2313	c.2017G>A	c.(2017-2019)Gtg>Atg	p.V673M	ITGB5_ENST00000461306.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	673					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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GCACACTCACCGATGGTGTCC	0.587																																																0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	131	113	119		2017	4.3	1	3		119	0,8600		0,0,4300	no	missense-near-splice	ITGB5	NM_002213.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	673/800	124487860	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.2017+1G>A	chr3.hg19:g.124487860C>T			B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	hg19	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633900	0.47049	2.27E-4	0.0	ENSG00000082781	ENST00000296181	D	0.90261	-2.64	5.29	4.34	0.51931	Integrin beta subunit, tail (2);	0.762691	0.12573	N	0.457111	D	0.83151	0.5192	L	0.29908	0.895	0.38470	D	0.94744	B	0.20052	0.041	B	0.18561	0.022	T	0.76046	-0.3102	9	.	.	.	.	8.2832	0.31913	0.0:0.8282:0.0:0.1718	.	673	P18084	ITB5_HUMAN	M	673	ENSP00000296181:V673M	.	V	-	1	0	ITGB5	125970550	0.915000	0.31059	1.000000	0.80357	0.994000	0.84299	1.262000	0.32992	2.761000	0.94854	0.655000	0.94253	GTG		0.587	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213	Missense_Mutation	T	124487860	C	T	124487860	5	4	80	1	0	0	0	0	0	0	1	0	7900	666	23	1	398	1	ITGB5	3	124487860	Splice_Site	SNP	C	TCGA-A4-8630-01A-11D-2396-08	5541979	124487860	73534570	15	5364											
FGFR3	2261	hgsc.bcm.edu	37	4	1807787	1807787	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr4:1807787A>G	ENST00000260795.2	+	13	1948	c.1846A>G	c.(1846-1848)Agg>Ggg	p.R616G	FGFR3_ENST00000340107.4_Missense_Mutation_p.R618G|FGFR3_ENST00000481110.2_Missense_Mutation_p.R617G|FGFR3_ENST00000440486.2_Missense_Mutation_p.R616G|FGFR3_ENST00000412135.2_Missense_Mutation_p.R504G|FGFR3_ENST00000352904.1_Missense_Mutation_p.R504G			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	616	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GTGCATCCACAGGGACCTGGC	0.642		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	0													39	39	39					4																	1807787		2202	4300	6502	SO:0001583	missense	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1846A>G	chr4.hg19:g.1807787A>G	ENSP00000260795:p.Arg616Gly		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	hg19	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	a	13.53	2.264914	0.40095	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.18	1.28	0.21552	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93559	0.7944	M	0.82433	2.59	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;D;D;D	0.97110	1.0;0.997;1.0;0.973	D	0.93158	0.6555	10	0.87932	D	0	.	11.472	0.50275	0.5856:0.4144:0.0:0.0	.	618;504;616;617	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	G	617;618;616;504;616;504	ENSP00000420533:R617G;ENSP00000339824:R618G;ENSP00000414914:R616G;ENSP00000412903:R504G;ENSP00000260795:R616G;ENSP00000231803:R504G	ENSP00000260795:R616G	R	+	1	2	FGFR3	1777585	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	1.293000	0.33353	0.540000	0.28808	0.241000	0.17934	AGG		0.642	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		G	1807787	A	G	1807787	3	3	80	1	0	0	0	0	1	0	0	0	5869	179	7	3	2051	3	FGFR3	4	1807787	Missense_Mutation	SNP	A	TCGA-A4-8630-01A-11D-2396-08		1807787	189346489	16	5365											
SLAIN2	57606	hgsc.bcm.edu	37	4	48384849	48384849	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr4:48384849T>A	ENST00000264313.6	+	5	1545	c.1127T>A	c.(1126-1128)gTg>gAg	p.V376E	SLAIN2_ENST00000512093.1_Missense_Mutation_p.V183E	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	376					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TATAGTAGAGTGTCCCCACAG	0.473																																																0													89	89	89					4																	48384849		1998	4164	6162	SO:0001583	missense	57606			BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"KIAA1458"	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1127T>A	chr4.hg19:g.48384849T>A	ENSP00000264313:p.Val376Glu		A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	hg19	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	T	4.898	0.166911	0.09339	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.77	3.24	0.37175	.	0.222330	0.45867	D	0.000335	T	0.39306	0.1073	N	0.24115	0.695	0.43000	D	0.994515	B;B	0.25609	0.13;0.096	B;B	0.23574	0.047;0.026	T	0.24548	-1.0157	9	0.42905	T	0.14	-4.6941	7.659	0.28392	0.0:0.0736:0.141:0.7854	.	46;376	Q9H705;Q9P270	.;SLAI2_HUMAN	E	376;183	.	ENSP00000264313:V376E	V	+	2	0	SLAIN2	48079606	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	1.779000	0.38624	1.026000	0.39733	0.533000	0.62120	GTG		0.473	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		A	48384849	T	A	48384849	3	1	80	1	0	0	0	0	1	0	0	0	14372	1696	59	5	1145	5	SLAIN2	4	48384849	Missense_Mutation	SNP	T	TCGA-A4-8630-01A-11D-2396-08	46577062	48384849	142769427	17	5366											
TBCK	93627	hgsc.bcm.edu	37	4	106967781	106967781	+	Silent	SNP	G	G	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr4:106967781G>A	ENST00000273980.5	-	27	3075	c.2628C>T	c.(2626-2628)ggC>ggT	p.G876G	TBCK_ENST00000394708.2_Silent_p.G876G|TBCK_ENST00000394706.3_Silent_p.G837G|TBCK_ENST00000432496.2_Silent_p.G876G|TBCK_ENST00000361687.4_Silent_p.G813G					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TTTTATTAATGCCACCATCTA	0.393																																																0													120	116	117					4																	106967781		2203	4300	6503	SO:0001819	synonymous_variant	93627				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2628C>T	chr4.hg19:g.106967781G>A				Silent	SNP	ENST00000273980.5	hg19	CCDS54788.1																																																																																				0.393	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		A	106967781	G	A	106967781	2	1	80	1	0	0	0	0	0	0	0	1	15641	1306	46	2		2	TBCK	4	106967781	Silent	SNP	G	TCGA-A4-8630-01A-11D-2396-08	58582932	106967781	84186495	18	5367											
JMY	133746	hgsc.bcm.edu	37	5	78610483	78610483	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr5:78610483C>T	ENST00000396137.4	+	9	2930	c.2468C>T	c.(2467-2469)cCa>cTa	p.P823L	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	823	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		cccccaccaccaccacctcTG	0.547																																																0													17	17	17					5																	78610483		1826	4036	5862	SO:0001583	missense	133746			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2468C>T	chr5.hg19:g.78610483C>T	ENSP00000379441:p.Pro823Leu		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	hg19	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340022	0.41398	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.33654	1.4	4.69	3.8	0.43715	.	0.871791	0.09687	N	0.768999	T	0.55065	0.1897	L	0.54323	1.7	0.52099	D	0.999943	D	0.89917	1.0	D	0.91635	0.999	T	0.29458	-1.0011	10	0.25106	T	0.35	.	13.6524	0.62318	0.1565:0.8435:0.0:0.0	.	823	Q8N9B5	JMY_HUMAN	L	812;823	ENSP00000379441:P823L	ENSP00000282259:P812L	P	+	2	0	JMY	78646239	0.992000	0.36948	0.018000	0.16275	0.297000	0.27493	7.110000	0.77069	0.928000	0.37168	0.650000	0.86243	CCA		0.547	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		T	78610483	C	T	78610483	3	4	80	1	0	0	0	0	1	0	0	0	7959	594	21	2	2502	2	JMY	5	78610483	Missense_Mutation	SNP	C	TCGA-A4-8630-01A-11D-2396-08		78610483	102304777	19	5368											
RAD50	10111	hgsc.bcm.edu	37	5	131953819	131953819	+	Silent	SNP	A	A	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr5:131953819A>G	ENST00000265335.6	+	21	3609	c.3222A>G	c.(3220-3222)gcA>gcG	p.A1074A	RAD50_ENST00000378823.3_Silent_p.A935A			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1074					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAATTTGGCATTAGGGCGAC	0.318								Homologous recombination																																								0													140	163	155					5																	131953819		2203	4299	6502	SO:0001819	synonymous_variant	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3222A>G	chr5.hg19:g.131953819A>G			B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	hg19	CCDS34233.1																																																																																				0.318	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		G	131953819	A	G	131953819	2	3	80	1	0	0	0	0	0	0	0	1	12990	204	8	3		3	RAD50	5	131953819	Silent	SNP	A	TCGA-A4-8630-01A-11D-2396-08	53343336	131953819	48961441	20	5369											
ZNF346	23567	hgsc.bcm.edu	37	5	176471535	176471535	+	Splice_Site	SNP	G	G	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr5:176471535G>C	ENST00000358149.3	+	4	560		c.e4+1		ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Splice_Site|ZNF346_ENST00000261948.4_Splice_Site|ZNF346_ENST00000511834.1_Splice_Site|ZNF346_ENST00000503039.1_Splice_Site	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346						positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGTGGAAGGTACTGGTTTT	0.552																																																0													117	109	112					5																	176471535		2203	4300	6503	SO:0001630	splice_region_variant	23567			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.517+1G>C	chr5.hg19:g.176471535G>C			B7Z367|Q68CV9|Q6ZMW1	Splice_Site	SNP	ENST00000358149.3	hg19	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	G	5.228	0.227622	0.09916	.	.	ENSG00000113761	ENST00000358149;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	.	.	.	4.55	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8977	0.35474	0.1045:0.0:0.8955:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF346	176404141	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.687000	0.84139	1.051000	0.40369	-0.160000	0.13428	.		0.552	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279	Intron	C	176471535	G	C	176471535	5	2	80	1	0	0	0	0	0	0	1	0	17865	1275	44	4	532	4	ZNF346	5	176471535	Splice_Site	SNP	G	TCGA-A4-8630-01A-11D-2396-08	44517716	176471535	4443725	21	5370											
PECI	10455	hgsc.bcm.edu	37	6	4117677	4117677	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr6:4117677C>G	ENST00000380118.3	-	9	930	c.894G>C	c.(892-894)gaG>gaC	p.E298D	ECI2_ENST00000465828.1_Missense_Mutation_p.E268D|ECI2_ENST00000361538.2_Missense_Mutation_p.E268D|C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000413766.2_Missense_Mutation_p.E131D|ECI2_ENST00000380125.2_Missense_Mutation_p.E268D			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	298	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AAATAAGCATCTCTGTTGCCT	0.393																																																0													86	90	89					6																	4117677		2203	4300	6503	SO:0001583	missense	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.894G>C	chr6.hg19:g.4117677C>G	ENSP00000369461:p.Glu298Asp		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	hg19	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129965	0.77549	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	6.16	4.39	0.52855	Crotonase, core (1);	0.145207	0.64402	D	0.000008	T	0.63498	0.2516	M	0.74389	2.26	0.80722	D	1	P	0.41524	0.753	P	0.47705	0.555	T	0.68965	-0.5270	10	0.54805	T	0.06	.	11.2609	0.49083	0.0:0.8536:0.0:0.1464	.	298	O75521	ECI2_HUMAN	D	298;268;131;268;268	ENSP00000369461:E298D;ENSP00000369468:E268D;ENSP00000406969:E131D;ENSP00000354737:E268D;ENSP00000420309:E268D	ENSP00000354737:E268D	E	-	3	2	ECI2	4062676	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.699000	0.37804	1.627000	0.50400	0.650000	0.86243	GAG		0.393	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		G	4117677	C	G	4117677	3	3	80	1	0	0	0	0	1	0	0	0	11718	912	32	4	298	4	PECI	6	4117677	Missense_Mutation	SNP	C	TCGA-A4-8630-01A-11D-2396-08		4117677	166997390	22	5371											
AMPH	273	hgsc.bcm.edu	37	7	38431574	38431574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr7:38431574delA	ENST00000356264.2	-	19	1868	c.1653delT	c.(1651-1653)catfs	p.H551fs	AMPH_ENST00000325590.5_Frame_Shift_Del_p.H509fs|AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Frame_Shift_Del_p.H509fs	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	551					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTTCCTCTTCATGGTTGGAGG	0.587																																																0													66	65	66					7																	38431574		2203	4300	6503	SO:0001589	frameshift_variant	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1653delT	chr7.hg19:g.38431574delA	ENSP00000348602:p.His551fs		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Frame_Shift_Del	DEL	ENST00000356264.2	hg19	CCDS5456.1																																																																																				0.587	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		-	38431574	A	-	38431574	7	5	80	1	0	1	0	1	0	0	0	0	588	214	8	0	446	0	AMPH	7	38431574	Frame_Shift_Del	DEL	A	TCGA-A4-8630-01A-11D-2396-08		38431574	120707089	23	5372											
CCDC146	57639	hgsc.bcm.edu	37	7	76866323	76866323	+	Silent	SNP	C	C	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr7:76866323C>G	ENST00000285871.4	+	3	343	c.216C>G	c.(214-216)acC>acG	p.T72T	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	72										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CCAAGTATACCTTGCTGCATG	0.403																																																0													194	144	161					7																	76866323		2203	4300	6503	SO:0001819	synonymous_variant	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.216C>G	chr7.hg19:g.76866323C>G			A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	hg19	CCDS34671.1																																																																																				0.403	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		G	76866323	C	G	76866323	2	3	80	1	0	0	0	0	0	0	0	1	2782	668	24	4		4	CCDC146	7	76866323	Silent	SNP	C	TCGA-A4-8630-01A-11D-2396-08	38434749	76866323	82272340	24	5373											
ASNS	440	hgsc.bcm.edu	37	7	97482647	97482647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr7:97482647delC	ENST00000394309.3	-	11	1761	c.1290delG	c.(1288-1290)ttgfs	p.L430fs	ASNS_ENST00000437628.1_Frame_Shift_Del_p.L347fs|ASNS_ENST00000444334.1_Frame_Shift_Del_p.L409fs|ASNS_ENST00000455086.1_Frame_Shift_Del_p.L347fs|ASNS_ENST00000394308.3_Frame_Shift_Del_p.L430fs|ASNS_ENST00000422745.1_Frame_Shift_Del_p.L409fs|ASNS_ENST00000175506.4_Frame_Shift_Del_p.L430fs	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	430	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTGGCAGAGACAAGTAATAGG	0.343																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)											0													73	75	75					7																	97482647		2203	4300	6503	SO:0001589	frameshift_variant	440			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1290delG	chr7.hg19:g.97482647delC	ENSP00000377846:p.Leu430fs		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Frame_Shift_Del	DEL	ENST00000394309.3	hg19	CCDS5652.1																																																																																				0.343	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		-	97482647	C	-	97482647	7	5	80	1	0	1	0	1	0	0	0	0	1048	477	17	0	407	0	ASNS	7	97482647	Frame_Shift_Del	DEL	C	TCGA-A4-8630-01A-11D-2396-08	20616324	97482647	61656016	25	5374											
ADAM7	8756	hgsc.bcm.edu	37	8	24339727	24339728	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr8:24339727_24339728insTA	ENST00000175238.6	+	9	861_862	c.778_779insTA	c.(778-780)ctafs	p.L260fs	ADAM7_ENST00000380789.1_Frame_Shift_Ins_p.L260fs|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Frame_Shift_Ins_p.L32fs|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	260	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TAAAATAGAACTATATTCAAAT	0.307																																																0																																										SO:0001589	frameshift_variant	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.781_782dupTA	chr8.hg19:g.24339730_24339731dupTA	ENSP00000175238:p.Leu260fs		A8K8X7|O75959|Q6PEJ6	Frame_Shift_Ins	INS	ENST00000175238.6	hg19	CCDS6045.1																																																																																				0.307	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		TA	24339728	-	TA	24339727	7	5	80	1	0	1	1	0	0	0	0	0	251	564	20	0	812	0	ADAM7	8	24339727	Frame_Shift_Ins	INS	-	TCGA-A4-8630-01A-11D-2396-08		24339727	122024295	26	5375											
HSF1	3297	hgsc.bcm.edu	37	8	145535422	145535422	+	Missense_Mutation	SNP	G	G	A	rs201143946		TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr8:145535422G>A	ENST00000528838.1	+	8	920	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	GS1-393G12.12_ENST00000525023.1_RNA|HSF1_ENST00000400780.4_Missense_Mutation_p.A189T	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	254	Regulatory domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CAGCCTCTACGCCCCTGATGC	0.677																																																0								G	THR/ALA	0,4406		0,0,2203	40	41	41		760	-9.2	0	8		41	1,8591	1.2+/-3.3	0,1,4295	yes	missense	HSF1	NM_005526.2	58	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	254/530	145535422	1,12997	2203	4296	6499	SO:0001583	missense	3297			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.760G>A	chr8.hg19:g.145535422G>A	ENSP00000431512:p.Ala254Thr		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	hg19	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287380	0.23478	0.0	1.16E-4	ENSG00000185122	ENST00000528838;ENST00000400780	.	.	.	5.3	-9.22	0.00675	Vertebrate heat shock transcription factor (1);	0.615854	0.16090	N	0.230092	T	0.06462	0.0166	N	0.02539	-0.55	0.09310	N	0.999999	B	0.09022	0.002	B	0.06405	0.002	T	0.12218	-1.0556	9	0.25106	T	0.35	-20.7374	0.7851	0.01047	0.1584:0.2577:0.2439:0.34	.	254	Q00613	HSF1_HUMAN	T	254;189	.	ENSP00000383590:A189T	A	+	1	0	HSF1	145506230	0.003000	0.15002	0.004000	0.12327	0.095000	0.18619	-0.084000	0.11268	-1.940000	0.01043	-0.502000	0.04539	GCC		0.677	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		A	145535422	G	A	145535422	3	1	80	1	0	0	0	0	1	0	0	0	7397	1087	38	1	790	1	HSF1	8	145535422	Missense_Mutation	SNP	G	TCGA-A4-8630-01A-11D-2396-08	121195695	145535422	828600	27	5376											
AGTPBP1	23287	hgsc.bcm.edu	37	9	88284416	88284416	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr9:88284416T>G	ENST00000357081.3	-	8	790	c.646A>C	c.(646-648)Aat>Cat	p.N216H	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.N216H|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.N158H|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.N54H|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.N158H|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.N268H|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.N216H			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	216					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AGACTGGAATTCTTCTTACTA	0.368																																																0													94	86	89					9																	88284416		2203	4298	6501	SO:0001583	missense	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.646A>C	chr9.hg19:g.88284416T>G	ENSP00000349592:p.Asn216His		B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	hg19		.	.	.	.	.	.	.	.	.	.	T	12.67	2.007766	0.35415	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218;ENST00000376081;ENST00000376080	T;T;T;T;T;T;T	0.52754	1.94;1.94;0.65;0.65;1.94;1.94;1.94	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.081135	0.85682	D	0.000000	T	0.54886	0.1886	L	0.32530	0.975	0.54753	D	0.999983	D;D;D;B	0.89917	0.998;1.0;1.0;0.235	D;D;D;B	0.77004	0.949;0.962;0.989;0.102	T	0.46830	-0.9163	10	0.08837	T	0.75	-33.4404	16.087	0.81065	0.0:0.0:0.0:1.0	.	268;216;54;216	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	H	158;216;216;268;54;216;158	ENSP00000338512:N158H;ENSP00000349592:N216H;ENSP00000365251:N216H;ENSP00000365277:N268H;ENSP00000402804:N54H;ENSP00000365249:N216H;ENSP00000365248:N158H	ENSP00000338512:N158H	N	-	1	0	AGTPBP1	87474236	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.376000	0.79658	2.202000	0.70862	0.533000	0.62120	AAT		0.368	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		G	88284416	T	G	88284416	3	3	80	1	0	0	0	0	1	0	0	0	400	1783	62	5	2990	5	AGTPBP1	9	88284416	Missense_Mutation	SNP	T	TCGA-A4-8630-01A-11D-2396-08		88284416	52929015	28	5377											
CCBL1	883	hgsc.bcm.edu	37	9	131597888	131597888	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr9:131597888T>A	ENST00000302586.3	-	10	1076	c.914A>T	c.(913-915)tAc>tTc	p.Y305F	CCBL1_ENST00000436267.2_Missense_Mutation_p.Y399F|CCBL1_ENST00000320665.6_Missense_Mutation_p.Y255F|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	305					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	CTGCACAAAGTAGCTGCTGGG	0.597																																																0													56	58	57					9																	131597888		2103	4222	6325	SO:0001583	missense	883			Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.914A>T	chr9.hg19:g.131597888T>A	ENSP00000302227:p.Tyr305Phe		Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	hg19	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.960807	0.74016	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90261	-2.64;-2.64;-2.64	5.3	5.3	0.74995	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.93304	0.7866	L	0.52364	1.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.92808	0.6262	10	0.40728	T	0.16	-2.7503	14.4079	0.67096	0.0:0.0:0.0:1.0	.	399;305;255;305	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	F	305;255;399	ENSP00000302227:Y305F;ENSP00000317342:Y255F;ENSP00000399415:Y399F	ENSP00000302227:Y305F	Y	-	2	0	CCBL1	130637709	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	7.196000	0.77805	1.997000	0.58415	0.358000	0.22013	TAC		0.597	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			A	131597888	T	A	131597888	3	1	80	1	0	0	0	0	1	0	0	0	2734	1638	57	5	370	5	CCBL1	9	131597888	Missense_Mutation	SNP	T	TCGA-A4-8630-01A-11D-2396-08	43313472	131597888	9615543	29	5378											
NFKB2	4791	hgsc.bcm.edu	37	10	104158555	104158555	+	Missense_Mutation	SNP	G	G	A	rs45580031		TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr10:104158555G>A	ENST00000369966.3	+	12	1301	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Missense_Mutation_p.G351R|NFKB2_ENST00000189444.6_Missense_Mutation_p.G351R	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	351	GRR.|Gly-rich.		G -> R (in dbSNP:rs45580031). {ECO:0000269|Ref.7}.		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CCAGCCCTTCGGGGGTGGCTC	0.627			T	IGH@	B-NHL																																		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													23	25	24					10																	104158555		1910	4115	6025	SO:0001583	missense	4791			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1051G>A	chr10.hg19:g.104158555G>A	ENSP00000358983:p.Gly351Arg		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	hg19	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691545	0.48097	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	D;D;D	0.86164	-2.08;-2.08;-2.08	4.56	4.56	0.56223	Immunoglobulin E-set (1);	0.220426	0.45126	D	0.000387	D	0.90686	0.7078	L	0.42245	1.32	0.48341	D	0.999631	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89788	0.3966	10	0.36615	T	0.2	.	17.5171	0.87777	0.0:0.0:1.0:0.0	.	351;351;351	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	R	351	ENSP00000410256:G351R;ENSP00000358983:G351R;ENSP00000189444:G351R	ENSP00000189444:G351R	G	+	1	0	NFKB2	104148545	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	4.681000	0.61663	2.387000	0.81309	0.561000	0.74099	GGG		0.627	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			A	104158555	G	A	104158555	3	1	80	1	0	0	0	0	1	0	0	0	10378	1116	39	1	1093	1	NFKB2	10	104158555	Missense_Mutation	SNP	G	TCGA-A4-8630-01A-11D-2396-08		104158555	31376192	30	5379											
CTSC	1075	hgsc.bcm.edu	37	11	88045694	88045694	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr11:88045694G>C	ENST00000227266.5	-	3	461	c.347C>G	c.(346-348)aCt>aGt	p.T116S		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	116					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTTGCAGTAAGTGGTCACCTT	0.458																																																0													204	192	196					11																	88045694		2201	4299	6500	SO:0001583	missense	1075			AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"Cathepsins"	2528	protein-coding gene	gene with protein product	"dipeptidyl peptidase 1"	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.347C>G	chr11.hg19:g.88045694G>C	ENSP00000227266:p.Thr116Ser		A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	hg19	CCDS8282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.162|0.162	-1.079798|-1.079798	0.01888|0.01888	.|.	.|.	ENSG00000109861|ENSG00000109861	ENST00000527018|ENST00000393302;ENST00000227266	.|D	.|0.84442	.|-1.85	5.97|5.97	4.11|4.11	0.48088|0.48088	.|Cathepsin C exclusion (1);	.|0.073747	.|0.85682	.|N	.|0.000000	T|T	0.48259|0.48259	0.1490|0.1490	N|N	0.00050|0.00050	-2.41|-2.41	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.54036|0.54036	-0.8353|-0.8353	5|9	.|.	.|.	.|.	.|.	12.6204|12.6204	0.56600|0.56600	0.1313:0.7414:0.1273:0.0|0.1313:0.7414:0.1273:0.0	.|.	.|116	.|P53634	.|CATC_HUMAN	V|S	73|99;116	.|ENSP00000227266:T116S	.|.	L|T	-|-	1|2	0|0	CTSC|CTSC	87685342|87685342	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.133000|0.133000	0.20885|0.20885	3.944000|3.944000	0.56629|0.56629	0.878000|0.878000	0.35920|0.35920	-0.783000|-0.783000	0.03347|0.03347	CTT|ACT		0.458	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		C	88045694	G	C	88045694	3	2	80	1	0	0	0	0	1	0	0	0	4033	1029	36	4	1064	4	CTSC	11	88045694	Missense_Mutation	SNP	G	TCGA-A4-8630-01A-11D-2396-08		88045694	46960822	31	5380											
NELL2	4753	hgsc.bcm.edu	37	12	44915902	44915902	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr12:44915902G>C	ENST00000429094.2	-	18	2560	c.2056C>G	c.(2056-2058)Ctt>Gtt	p.L686V	NELL2_ENST00000551601.1_Missense_Mutation_p.L638V|NELL2_ENST00000549027.1_Missense_Mutation_p.L685V|NELL2_ENST00000437801.2_Missense_Mutation_p.L736V|NELL2_ENST00000395487.2_Missense_Mutation_p.L685V|NELL2_ENST00000452445.2_Missense_Mutation_p.L686V|NELL2_ENST00000333837.4_Missense_Mutation_p.L709V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	686	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L686I(1)|p.L736I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CAGCAAAAAAGATCAACTGTG	0.428																																																2	Substitution - Missense(2)	large_intestine(2)											122	111	115					12																	44915902		2203	4300	6503	SO:0001583	missense	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2056C>G	chr12.hg19:g.44915902G>C	ENSP00000390680:p.Leu686Val		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	hg19	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224335	0.39300	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;T;D;D;T;D	0.82433	-1.56;-1.54;-1.24;-1.54;-1.56;-1.49;-1.61	5.7	5.7	0.88788	von Willebrand factor, type C (2);	0.063717	0.64402	D	0.000004	T	0.74619	0.3740	L	0.39020	1.185	0.51012	D	0.999902	B;P;B;B;B	0.36282	0.355;0.546;0.165;0.038;0.296	B;B;B;B;B	0.35312	0.1;0.2;0.069;0.018;0.125	T	0.71269	-0.4643	10	0.17369	T	0.5	-14.6968	14.0416	0.64678	0.0717:0.0:0.9283:0.0	.	709;736;638;686;685	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	V	685;686;638;686;685;709;736	ENSP00000378866:L685V;ENSP00000390680:L686V;ENSP00000449332:L638V;ENSP00000394612:L686V;ENSP00000447927:L685V;ENSP00000327988:L709V;ENSP00000416341:L736V	ENSP00000327988:L709V	L	-	1	0	NELL2	43202169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.482000	0.66833	2.683000	0.91414	0.650000	0.86243	CTT		0.428	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		C	44915902	G	C	44915902	3	2	80	1	0	0	0	0	1	0	0	0	10336	942	33	4	406	4	NELL2	12	44915902	Missense_Mutation	SNP	G	TCGA-A4-8630-01A-11D-2396-08		44915902	88935993	32	5381											
DIP2B	57609	hgsc.bcm.edu	37	12	51102296	51102296	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr12:51102296C>A	ENST00000301180.5	+	22	2634	c.2600C>A	c.(2599-2601)cCt>cAt	p.P867H		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	867						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GAACAAAGACCTGATGCTTCT	0.502																																																0													262	192	215					12																	51102296		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2600C>A	chr12.hg19:g.51102296C>A	ENSP00000301180:p.Pro867His		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	hg19	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337555	0.81911	.	.	ENSG00000066084	ENST00000301180	T	0.12465	2.68	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48581	-0.9023	10	0.66056	D	0.02	-15.6463	18.0462	0.89332	0.0:1.0:0.0:0.0	.	867	Q9P265	DIP2B_HUMAN	H	867	ENSP00000301180:P867H	ENSP00000301180:P867H	P	+	2	0	DIP2B	49388563	1.000000	0.71417	0.968000	0.41197	0.855000	0.48748	5.912000	0.69948	2.826000	0.97356	0.491000	0.48974	CCT		0.502	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		A	51102296	C	A	51102296	3	1	80	1	0	0	0	0	1	0	0	0	4530	681	24	4	2686	4	DIP2B	12	51102296	Missense_Mutation	SNP	C	TCGA-A4-8630-01A-11D-2396-08	6186394	51102296	82749599	33	5382											
LETMD1	25875	hgsc.bcm.edu	37	12	51450186	51450186	+	Silent	SNP	G	G	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr12:51450186G>A	ENST00000262055.4	+	7	855	c.816G>A	c.(814-816)ttG>ttA	p.L272L	LETMD1_ENST00000418425.2_Silent_p.L285L|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Silent_p.L216L|LETMD1_ENST00000552739.1_Silent_p.L155L|LETMD1_ENST00000547008.1_Silent_p.L148L	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	272	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CTCCCTTGTTGAGACATCGTT	0.493																																																0													174	148	156					12																	51450186		2203	4300	6503	SO:0001819	synonymous_variant	25875			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.816G>A	chr12.hg19:g.51450186G>A			A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Silent	SNP	ENST00000262055.4	hg19	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347756	0.61183	.	.	ENSG00000050426	ENST00000553043	.	.	.	5.49	3.69	0.42338	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.80722	D	1	B;B	0.14438	0.01;0.001	B;B	0.14578	0.011;0.004	T	0.44345	-0.9334	7	0.87932	D	0	-8.0385	7.6315	0.28243	0.3175:0.0:0.6825:0.0	.	110;110	B7Z9A7;F8W6J0	.;.	K	41	.	ENSP00000369478:E110K	E	+	1	0	LETMD1	49736453	1.000000	0.71417	0.675000	0.29917	0.599000	0.36880	1.036000	0.30228	0.822000	0.34565	-0.137000	0.14449	GAG		0.493	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		A	51450186	G	A	51450186	2	1	80	1	0	0	0	0	0	0	0	1	8738	1281	45	2		2	LETMD1	12	51450186	Silent	SNP	G	TCGA-A4-8630-01A-11D-2396-08	347890	51450186	82401709	34	5383											
TDRD3	81550	hgsc.bcm.edu	37	13	61034625	61034625	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr13:61034625G>A	ENST00000196169.3	+	4	813	c.25G>A	c.(25-27)Ggt>Agt	p.G9S	TDRD3_ENST00000535286.1_Missense_Mutation_p.G102S|TDRD3_ENST00000377894.2_Missense_Mutation_p.G9S|TDRD3_ENST00000463109.1_3'UTR|TDRD3_ENST00000377881.2_Missense_Mutation_p.G9S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	9					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GATGACTGATGGTCATATAAG	0.358																																					Colon(36;164 906 35820 50723)											0													123	111	115					13																	61034625		2203	4300	6503	SO:0001583	missense	81550			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.25G>A	chr13.hg19:g.61034625G>A	ENSP00000196169:p.Gly9Ser		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	hg19	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	36	5.652402	0.96724	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286;ENST00000377882	D;D;D;D	0.99924	-7.4;-7.4;-7.4;-8.02	6.06	6.06	0.98353	.	0.048957	0.85682	N	0.000000	D	0.99937	0.9972	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96414	0.9306	10	0.87932	D	0	-15.3725	20.6397	0.99537	0.0:0.0:1.0:0.0	.	102;9;9	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	S	9;9;9;102;9	ENSP00000196169:G9S;ENSP00000367113:G9S;ENSP00000367126:G9S;ENSP00000440190:G102S	ENSP00000196169:G9S	G	+	1	0	TDRD3	59932626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GGT		0.358	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		A	61034625	G	A	61034625	3	1	80	1	0	0	0	0	1	0	0	0	15737	1348	47	2	318	2	TDRD3	13	61034625	Missense_Mutation	SNP	G	TCGA-A4-8630-01A-11D-2396-08		61034625	54135253	35	5384											
SUPT16H	11198	hgsc.bcm.edu	37	14	21821646	21821648	+	Splice_Site	DEL	CCT	CCT	-			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr14:21821646_21821648delCCT	ENST00000216297.2	-	25	3335_3337	c.2997_2999delAGG	c.(2995-3000)aaaggg>aag	p.G1000del		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1000	Glu-rich (acidic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTTTTAAAAACCTTTTCGGGCTT	0.34																																																0																																										SO:0001630	splice_region_variant	11198			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2998+1AGG>-	chr14.hg19:g.21821646_21821648delCCT			Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Del	DEL	ENST00000216297.2	hg19	CCDS9569.1																																																																																				0.34	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		In_Frame_Del	-	21821648	CCT	-	21821646	8	5	80	1	0	1	0	1	0	0	1	0	15401	521	18	0	152	0	SUPT16H	14	21821646	Splice_Site	DEL	CCT	TCGA-A4-8630-01A-11D-2396-08		21821646	85527894	36	5385											
RALGAPA1	253959	hgsc.bcm.edu	37	14	36104756	36104756	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr14:36104756G>C	ENST00000389698.3	-	31	4597	c.4207C>G	c.(4207-4209)Cct>Gct	p.P1403A	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1416A|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.P1450A|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1403A	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1403	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTCTTTAGAGGTAAGGCCATG	0.363																																																0													49	46	47					14																	36104756		2203	4296	6499	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4207C>G	chr14.hg19:g.36104756G>C	ENSP00000374348:p.Pro1403Ala		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	hg19	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520063	0.85495	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;1.52;-0.2;-0.2	5.41	5.41	0.78517	.	0.100260	0.64402	D	0.000001	T	0.81187	0.4770	M	0.81112	2.525	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.98;0.855	D;D;P;P	0.91635	0.999;0.999;0.885;0.667	T	0.81604	-0.0857	10	0.51188	T	0.08	-15.3316	19.5739	0.95434	0.0:0.0:1.0:0.0	.	1450;1416;1403;1403	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	A	1403;1403;1403;1450;41;1416;1450	ENSP00000374348:P1403A;ENSP00000302647:P1403A;ENSP00000258840:P1450A;ENSP00000451133:P41A;ENSP00000371803:P1416A;ENSP00000451877:P1450A	ENSP00000258840:P1450A	P	-	1	0	RALGAPA1	35174507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.934000	0.92915	2.691000	0.91804	0.563000	0.77884	CCT		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		C	36104756	G	C	36104756	3	2	80	1	0	0	0	0	1	0	0	0	13019	1261	44	4	2096	4	RALGAPA1	14	36104756	Missense_Mutation	SNP	G	TCGA-A4-8630-01A-11D-2396-08	14283110	36104756	71244784	37	5386											
DUOXA2	405753	hgsc.bcm.edu	37	15	45410080	45410080	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr15:45410080C>A	ENST00000323030.5	+	6	1221	c.936C>A	c.(934-936)gaC>gaA	p.D312E	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000267803.4_Intron	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	312					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CTCTCCCAGACTTAAAATGTA	0.627											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													56	67	63					15																	45410080		2198	4298	6496	SO:0001583	missense	405753			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.936C>A	chr15.hg19:g.45410080C>A	ENSP00000319705:p.Asp312Glu	931	B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	hg19	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747884	0.30955	.	.	ENSG00000140274	ENST00000323030	T	0.58060	0.36	4.74	1.8	0.24995	.	0.658067	0.14730	N	0.301826	T	0.27278	0.0669	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.13737	-1.0498	10	0.44086	T	0.13	-18.3106	4.3109	0.10971	0.1793:0.6307:0.0:0.19	.	312	Q1HG44	DOXA2_HUMAN	E	312	ENSP00000319705:D312E	ENSP00000319705:D312E	D	+	3	2	DUOXA2	43197372	0.001000	0.12720	0.004000	0.12327	0.047000	0.14425	0.068000	0.14531	0.310000	0.22990	0.561000	0.74099	GAC		0.627	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		A	45410080	C	A	45410080	3	1	80	1	0	0	0	0	1	0	0	0	4805	564	20	4	958	4	DUOXA2	15	45410080	Missense_Mutation	SNP	C	TCGA-A4-8630-01A-11D-2396-08		45410080	57121312	38	5387											
MYO9A	4649	hgsc.bcm.edu	37	15	72172105	72172105	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr15:72172105T>C	ENST00000356056.5	-	30	6168	c.5696A>G	c.(5695-5697)gAa>gGa	p.E1899G	MYO9A_ENST00000444904.1_Missense_Mutation_p.E1880G|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1970G|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1899G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1899	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGCCGAAATTCCTTCAGGGC	0.363																																																0													108	106	107					15																	72172105		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5696A>G	chr15.hg19:g.72172105T>C	ENSP00000348349:p.Glu1899Gly		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414821	0.83449	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.14893	2.47;2.47;2.47	4.73	4.73	0.59995	.	.	.	.	.	T	0.42899	0.1223	M	0.79258	2.445	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;P	0.79108	0.992;0.848	T	0.43956	-0.9359	9	0.62326	D	0.03	.	14.5012	0.67722	0.0:0.0:0.0:1.0	.	1970;1899	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	G	1899;1970;1880	ENSP00000348349:E1899G;ENSP00000399162:E1970G;ENSP00000398250:E1880G	ENSP00000348349:E1899G	E	-	2	0	MYO9A	69959159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.593000	0.82686	1.903000	0.55091	0.528000	0.53228	GAA		0.363	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		C	72172105	T	C	72172105	3	2	80	1	0	0	0	0	1	0	0	0	10086	1783	62	3	2002	3	MYO9A	15	72172105	Missense_Mutation	SNP	T	TCGA-A4-8630-01A-11D-2396-08	26762025	72172105	30359287	39	5388											
TMEM204	79652	hgsc.bcm.edu	37	16	1604905	1604905	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr16:1604905A>T	ENST00000566264.1	+	3	1262	c.559A>T	c.(559-561)Atc>Ttc	p.I187F	IFT140_ENST00000439987.2_Intron|TMEM204_ENST00000253934.5_Missense_Mutation_p.I187F|IFT140_ENST00000426508.2_Intron	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	187					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				AGCCATGCTCATCTGGAACAT	0.597																																																0													57	62	60					16																	1604905		2025	4177	6202	SO:0001583	missense	79652				CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"chromosome 16 open reading frame 30"	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.559A>T	chr16.hg19:g.1604905A>T	ENSP00000454945:p.Ile187Phe		D3DU76|Q3KRC1|Q9H7G5	Missense_Mutation	SNP	ENST00000566264.1	hg19	CCDS42098.1	.	.	.	.	.	.	.	.	.	.	a	19.43	3.826453	0.71143	.	.	ENSG00000131634	ENST00000253934	T	0.56275	0.47	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66925	-0.5800	10	0.87932	D	0	-17.5451	16.269	0.82606	1.0:0.0:0.0:0.0	.	187	Q9BSN7	TM204_HUMAN	F	187	ENSP00000253934:I187F	ENSP00000253934:I187F	I	+	1	0	TMEM204	1544906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.882000	0.92420	2.241000	0.73720	0.529000	0.55759	ATC		0.597	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432610.1	NM_024600		T	1604905	A	T	1604905	3	4	80	1	0	0	0	0	1	0	0	0	16134	217	8	5	569	5	TMEM204	16	1604905	Missense_Mutation	SNP	A	TCGA-A4-8630-01A-11D-2396-08		1604905	88749848	40	5389											
SCNN1B	6338	hgsc.bcm.edu	37	16	23387095	23387095	+	Missense_Mutation	SNP	C	C	T	rs372303239		TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr16:23387095C>T	ENST00000343070.2	+	8	1365	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	SCNN1B_ENST00000568085.1_Missense_Mutation_p.R361C|SCNN1B_ENST00000568923.1_Missense_Mutation_p.R370C|SCNN1B_ENST00000307331.5_Missense_Mutation_p.R442C	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	397					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCACATGATCCGTAACTGCAA	0.597																																																0									CYS/ARG	1,4393	2.1+/-5.4	0,1,2196	191	152	165		1189	2.5	0.7	16		165	0,8600		0,0,4300	no	missense	SCNN1B	NM_000336.2	180	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	397/641	23387095	1,12993	2197	4300	6497	SO:0001583	missense	6338			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1189C>T	chr16.hg19:g.23387095C>T	ENSP00000345751:p.Arg397Cys		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	hg19	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	c	11.77	1.739120	0.30774	2.28E-4	0.0	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.64618	-0.11;-0.11	4.65	2.53	0.30540	Na+ channel, amiloride-sensitive, conserved site (1);	1.865040	0.02752	N	0.117609	T	0.67832	0.2935	L	0.48642	1.525	0.09310	N	1	P	0.36171	0.541	P	0.46275	0.51	T	0.58031	-0.7708	10	0.87932	D	0	-11.3583	9.6889	0.40116	0.0:0.7032:0.2048:0.0921	.	397	P51168	SCNNB_HUMAN	C	397;442	ENSP00000345751:R397C;ENSP00000302874:R442C	ENSP00000302874:R442C	R	+	1	0	SCNN1B	23294596	0.007000	0.16637	0.690000	0.30148	0.144000	0.21451	1.280000	0.33202	1.065000	0.40693	0.651000	0.88453	CGT		0.597	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			T	23387095	C	T	23387095	3	4	80	1	0	0	0	0	1	0	0	0	13934	652	23	1	1215	1	SCNN1B	16	23387095	Missense_Mutation	SNP	C	TCGA-A4-8630-01A-11D-2396-08	21782190	23387095	66967658	41	5390											
ELMO3	79767	hgsc.bcm.edu	37	16	67236622	67236622	+	Silent	SNP	T	T	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr16:67236622T>A	ENST00000360833.1	+	14	1656	c.1599T>A	c.(1597-1599)acT>acA	p.T533T	ELMO3_ENST00000477898.1_Silent_p.T384T|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000393997.2_Silent_p.T550T			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	497					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		ATGCGCTCACTTATGGGGAGG	0.647																																																0													42	49	46					16																	67236622		2076	4215	6291	SO:0001819	synonymous_variant	79767				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"Engulfment and cell motility proteins"	17289	protein-coding gene	gene with protein product		606422	"engulfment and cell motility 3 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1599T>A	chr16.hg19:g.67236622T>A			B4DV86|Q9H8A5	Silent	SNP	ENST00000360833.1	hg19																																																																																					0.647	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		A	67236622	T	A	67236622	2	1	80	1	0	0	0	0	0	0	0	1	5069	1596	56	5		5	ELMO3	16	67236622	Silent	SNP	T	TCGA-A4-8630-01A-11D-2396-08	43849527	67236622	23118131	42	5391											
TEKT1	83659	hgsc.bcm.edu	37	17	6703554	6703554	+	Splice_Site	SNP	C	C	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr17:6703554C>A	ENST00000338694.2	-	8	1179		c.e8-1		TEKT1_ENST00000535086.1_Splice_Site	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1							cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTCCTTCAATCTAGGAGAAAG	0.463																																																0													55	53	53					17																	6703554		2203	4300	6503	SO:0001630	splice_region_variant	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1050-1G>T	chr17.hg19:g.6703554C>A			D3DTM7	Splice_Site	SNP	ENST00000338694.2	hg19	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558722	0.45590	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8163	0.88635	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEKT1	6644278	1.000000	0.71417	0.148000	0.22405	0.065000	0.16274	5.783000	0.68982	2.885000	0.99019	0.655000	0.94253	.		0.463	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285	Intron	A	6703554	C	A	6703554	5	1	80	1	0	0	0	0	0	0	1	0	15757	927	32	4	211	4	TEKT1	17	6703554	Splice_Site	SNP	C	TCGA-A4-8630-01A-11D-2396-08		6703554	74491656	43	5392											
RAI1	10743	hgsc.bcm.edu	37	17	17701717	17701717	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr17:17701717G>A	ENST00000353383.1	+	3	5924	c.5455G>A	c.(5455-5457)Gcc>Acc	p.A1819T	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1819					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CGGCGGGGAGGCCCAGGAGCA	0.692																																																0													15	17	16					17																	17701717		2196	4296	6492	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5455G>A	chr17.hg19:g.17701717G>A	ENSP00000323074:p.Ala1819Thr		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	3.249	-0.153699	0.06585	.	.	ENSG00000108557	ENST00000353383;ENST00000395776	T	0.65364	-0.15	4.42	0.819	0.18785	.	0.164676	0.41605	N	0.000849	T	0.24928	0.0605	N	0.01576	-0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04900	-1.0919	10	0.09843	T	0.71	.	5.4772	0.16702	0.6904:0.146:0.1635:0.0	.	1819	Q7Z5J4	RAI1_HUMAN	T	1819	ENSP00000323074:A1819T	ENSP00000323074:A1819T	A	+	1	0	RAI1	17642442	1.000000	0.71417	0.989000	0.46669	0.093000	0.18481	3.093000	0.50217	-0.047000	0.13423	-0.367000	0.07326	GCC		0.692	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		A	17701717	G	A	17701717	3	1	80	1	0	0	0	0	1	0	0	0	13013	1203	42	2	5457	2	RAI1	17	17701717	Missense_Mutation	SNP	G	TCGA-A4-8630-01A-11D-2396-08	10998163	17701717	63493493	44	5393											
ALDH3A2	224	hgsc.bcm.edu	37	17	19566808	19566808	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr17:19566808A>G	ENST00000176643.6	+	7	1549	c.1103A>G	c.(1102-1104)cAt>cGt	p.H368R	SNORA31_ENST00000516540.1_RNA|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.H368R|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.H368R|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.H368R|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.H368R|ALDH3A2_ENST00000571163.1_Missense_Mutation_p.H41R			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	368					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TCGCATAACCATAAGGTAAGC	0.358																																																0													77	76	76					17																	19566808		2203	4300	6503	SO:0001583	missense	224			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1103A>G	chr17.hg19:g.19566808A>G	ENSP00000176643:p.His368Arg		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	hg19	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	A	6.134	0.392977	0.11638	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	T;T;T	0.75367	-0.93;-0.93;-0.93	5.12	2.89	0.33648	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.561400	0.20786	N	0.085705	T	0.41581	0.1165	N	0.01003	-1.06	0.09310	N	0.99999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.33163	-0.9879	10	0.33141	T	0.24	-1.3235	7.2008	0.25879	0.7763:0.147:0.0766:0.0	.	368;368	P51648;P51648-2	AL3A2_HUMAN;.	R	368	ENSP00000176643:H368R;ENSP00000378942:H368R;ENSP00000345774:H368R	ENSP00000176643:H368R	H	+	2	0	ALDH3A2	19507400	0.592000	0.26832	0.274000	0.24659	0.402000	0.30811	2.992000	0.49417	0.289000	0.22422	0.455000	0.32223	CAT		0.358	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			G	19566808	A	G	19566808	3	3	80	1	0	0	0	0	1	0	0	0	498	217	8	3	1129	3	ALDH3A2	17	19566808	Missense_Mutation	SNP	A	TCGA-A4-8630-01A-11D-2396-08	1865091	19566808	61628402	45	5394											
TAF15	8148	hgsc.bcm.edu	37	17	34171754	34171754	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr17:34171754G>A	ENST00000588240.1	+	15	1566	c.1451G>A	c.(1450-1452)gGt>gAt	p.G484D	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.G481D	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggagatcgaggtggctatgga	0.617			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																		Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	0													69	59	62					17																	34171754		2203	4300	6503	SO:0001583	missense	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1451G>A	chr17.hg19:g.34171754G>A	ENSP00000466950:p.Gly484Asp		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	hg19	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613730	0.46631	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	D	0.95171	-3.63	4.33	3.36	0.38483	.	.	.	.	.	D	0.88250	0.6386	N	0.22421	0.69	0.35491	D	0.798963	P;P	0.39282	0.536;0.666	B;B	0.35240	0.097;0.198	D	0.89286	0.3615	9	0.87932	D	0	.	9.8408	0.40998	0.1042:0.0:0.8958:0.0	.	484;481	Q92804;Q92804-2	RBP56_HUMAN;.	D	484;287	ENSP00000309558:G484D	ENSP00000309558:G484D	G	+	2	0	TAF15	31195867	0.956000	0.32656	0.753000	0.31225	0.954000	0.61252	3.509000	0.53386	0.943000	0.37553	0.467000	0.42956	GGT		0.617	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		A	34171754	G	A	34171754	3	1	80	1	0	0	0	0	1	0	0	0	15523	1261	44	2	1509	2	TAF15	17	34171754	Missense_Mutation	SNP	G	TCGA-A4-8630-01A-11D-2396-08	14604946	34171754	47023456	46	5395											
HELZ	9931	hgsc.bcm.edu	37	17	65074431	65074431	+	Silent	SNP	G	G	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr17:65074431G>A	ENST00000358691.5	-	33	5932	c.5766C>T	c.(5764-5766)ctC>ctT	p.L1922L	HELZ_ENST00000580168.1_Silent_p.L1923L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1922						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTTCCTGGAAGAGAGACAGAG	0.522																																																0													44	46	45					17																	65074431		1860	4094	5954	SO:0001819	synonymous_variant	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5766C>T	chr17.hg19:g.65074431G>A			I6L9H4	Silent	SNP	ENST00000358691.5	hg19	CCDS42374.1																																																																																				0.522	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		A	65074431	G	A	65074431	2	1	80	1	0	0	0	0	0	0	0	1	7051	929	33	2		2	HELZ	17	65074431	Silent	SNP	G	TCGA-A4-8630-01A-11D-2396-08	30902677	65074431	16120779	47	5396											
SMCHD1	23347	hgsc.bcm.edu	37	18	2718194	2718194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr18:2718194C>T	ENST00000320876.6	+	18	2637	c.2299C>T	c.(2299-2301)Caa>Taa	p.Q767*	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.Q767*	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	767					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCATATTAGTCAACATGGAGG	0.284																																																0													91	85	87					18																	2718194		1809	4065	5874	SO:0001587	stop_gained	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2299C>T	chr18.hg19:g.2718194C>T	ENSP00000326603:p.Gln767*		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Nonsense_Mutation	SNP	ENST00000320876.6	hg19	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313068	0.81358	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	5.62	5.62	0.85841	.	0.063495	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.072	19.6473	0.95784	0.0:1.0:0.0:0.0	.	.	.	.	X	767	.	ENSP00000261598:Q767X	Q	+	1	0	SMCHD1	2708194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.933000	0.70130	2.650000	0.89964	0.591000	0.81541	CAA		0.284	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			T	2718194	C	T	2718194	4	4	80	1	0	0	0	0	0	1	0	0	14794	827	29	2	2369	2	SMCHD1	18	2718194	Nonsense_Mutation	SNP	C	TCGA-A4-8630-01A-11D-2396-08		2718194	75359054	48	5397											
TCF4	6925	hgsc.bcm.edu	37	18	52921812	52921812	+	Silent	SNP	A	A	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr18:52921812A>G	ENST00000356073.4	-	15	1877	c.1266T>C	c.(1264-1266)atT>atC	p.I422I	TCF4_ENST00000568673.1_Silent_p.I398I|TCF4_ENST00000570287.2_Silent_p.I262I|TCF4_ENST00000561831.3_Silent_p.I262I|TCF4_ENST00000566279.1_Silent_p.I362I|TCF4_ENST00000398339.1_Silent_p.I524I|TCF4_ENST00000537578.1_Silent_p.I398I|TCF4_ENST00000567880.1_Silent_p.I362I|TCF4_ENST00000457482.3_Silent_p.I262I|TCF4_ENST00000561992.1_Silent_p.I292I|TCF4_ENST00000564403.2_Silent_p.I428I|TCF4_ENST00000564999.1_Silent_p.I422I|TCF4_ENST00000565018.2_Silent_p.I422I|TCF4_ENST00000570177.2_Silent_p.I292I|TCF4_ENST00000544241.2_Silent_p.I351I|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564228.1_Silent_p.I351I|TCF4_ENST00000566286.1_Silent_p.I419I|TCF4_ENST00000568740.1_Silent_p.I397I|TCF4_ENST00000537856.3_Silent_p.I292I|TCF4_ENST00000540999.1_Silent_p.I398I|TCF4_ENST00000543082.1_Silent_p.I380I|TCF4_ENST00000354452.3_Silent_p.I422I	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	422					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAGAAGGTCCAATGATTCCAT	0.493																																																0													118	106	110					18																	52921812		2203	4300	6503	SO:0001819	synonymous_variant	6925			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1266T>C	chr18.hg19:g.52921812A>G			B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	ENST00000356073.4	hg19	CCDS11960.1																																																																																				0.493	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		G	52921812	A	G	52921812	2	3	80	1	0	0	0	0	0	0	0	1	15700	126	5	3		3	TCF4	18	52921812	Silent	SNP	A	TCGA-A4-8630-01A-11D-2396-08	50203618	52921812	25155436	49	5398											
MUC16	94025	hgsc.bcm.edu	37	19	9056220	9056220	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr19:9056220G>C	ENST00000397910.4	-	3	31429	c.31226C>G	c.(31225-31227)aCa>aGa	p.T10409R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10411	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTGTCACTGTTCCCAGCTC	0.473																																																0													201	199	200					19																	9056220		2020	4181	6201	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31226C>G	chr19.hg19:g.9056220G>C	ENSP00000381008:p.Thr10409Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.773	0.707853	0.15239	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	3.94	-6.08	0.02151	.	.	.	.	.	T	0.01489	0.0048	N	0.19112	0.55	.	.	.	B	0.33044	0.395	B	0.27076	0.076	T	0.43798	-0.9369	8	0.87932	D	0	.	0.9223	0.01318	0.1739:0.2499:0.196:0.3802	.	10409	B5ME49	.	R	10409	ENSP00000381008:T10409R	ENSP00000381008:T10409R	T	-	2	0	MUC16	8917220	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.198000	0.01239	-1.038000	0.03279	-0.181000	0.13052	ACA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9056220	G	C	9056220	3	2	80	1	0	0	0	0	1	0	0	0	9975	1377	48	4	12625	4	MUC16	19	9056220	Missense_Mutation	SNP	G	TCGA-A4-8630-01A-11D-2396-08		9056220	50072763	50	5399											
ZNF93	81931	hgsc.bcm.edu	37	19	20044771	20044771	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr19:20044771C>T	ENST00000343769.5	+	4	1035	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGAATTCATACTGGAGAGAAA	0.378																																																0													57	57	57					19																	20044771		2203	4300	6503	SO:0001583	missense	81931			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1007C>T	chr19.hg19:g.20044771C>T	ENSP00000342002:p.Thr336Ile		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	hg19	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	c	17.57	3.422998	0.62733	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.25749	1.78	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46521	0.1397	M	0.77103	2.36	0.28256	N	0.925036	D	0.71674	0.998	D	0.76575	0.988	T	0.30208	-0.9986	9	0.87932	D	0	.	6.9971	0.24789	0.0:1.0:0.0:0.0	.	336	P35789	ZNF93_HUMAN	I	336	ENSP00000342002:T336I	ENSP00000342002:T336I	T	+	2	0	ZNF93	19905771	0.931000	0.31567	0.796000	0.32109	0.795000	0.44927	1.895000	0.39778	0.192000	0.20272	0.195000	0.17529	ACT		0.378	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		T	20044771	C	T	20044771	3	4	80	1	0	0	0	0	1	0	0	0	18207	565	20	2	1021	2	ZNF93	19	20044771	Missense_Mutation	SNP	C	TCGA-A4-8630-01A-11D-2396-08	10988551	20044771	39084212	51	5400											
ZNF585A	199704	hgsc.bcm.edu	37	19	37642653	37642653	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr19:37642653C>A	ENST00000356958.4	-	5	2406	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K661N|ZNF585A_ENST00000355533.2_Missense_Mutation_p.K353N|ZNF585A_ENST00000292841.5_Missense_Mutation_p.K661N			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	716					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACGTAAGGCTTCTCTCCAG	0.453																																																0													120	99	106					19																	37642653		2203	4300	6503	SO:0001583	missense	199704			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.2148G>T	chr19.hg19:g.37642653C>A	ENSP00000349440:p.Lys716Asn		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	hg19		.	.	.	.	.	.	.	.	.	.	C	14.78	2.637787	0.47049	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	3.05	-1.58	0.08479	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.194401	0.25332	N	0.031425	T	0.42177	0.1191	.	.	.	0.34425	D	0.697868	D	0.61080	0.989	D	0.71184	0.972	T	0.52852	-0.8520	9	0.87932	D	0	.	7.5181	0.27612	0.0:0.29:0.0:0.71	.	716	Q6P3V2	Z585A_HUMAN	N	716;661;661;353	ENSP00000349440:K716N;ENSP00000292841:K661N;ENSP00000375998:K661N;ENSP00000347724:K353N	ENSP00000292841:K661N	K	-	3	2	ZNF585A	42334493	0.000000	0.05858	0.987000	0.45799	0.987000	0.75469	-2.016000	0.01446	-0.115000	0.11915	-0.136000	0.14681	AAG		0.453	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		A	37642653	C	A	37642653	3	1	80	1	0	0	0	0	1	0	0	0	18022	796	28	4	165	4	ZNF585A	19	37642653	Missense_Mutation	SNP	C	TCGA-A4-8630-01A-11D-2396-08	17597882	37642653	21486330	52	5401											
SBF1	6305	hgsc.bcm.edu	37	22	50903300	50903300	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr22:50903300G>A	ENST00000390679.3	-	13	1563	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L	SBF1_ENST00000348911.6_Missense_Mutation_p.P461L|SBF1_ENST00000380817.3_Missense_Mutation_p.P460L			O95248	MTMR5_HUMAN	SET binding factor 1	460					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GACACGCTGGGGGTGGTTCTC	0.642																																																0													46	51	49					22																	50903300		2127	4220	6347	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1379C>T	chr22.hg19:g.50903300G>A	ENSP00000375097:p.Pro460Leu		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	hg19		.	.	.	.	.	.	.	.	.	.	G	19.24	3.789727	0.70337	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86769	-2.16;-2.16;-2.17	4.17	4.17	0.49024	.	0.269330	0.29767	N	0.011248	D	0.87822	0.6274	L	0.49126	1.545	0.58432	D	0.999996	B;P;D	0.56746	0.021;0.873;0.977	B;P;P	0.55923	0.029;0.466;0.787	D	0.86760	0.1966	10	0.44086	T	0.13	.	9.8481	0.41039	0.0:0.0:0.6463:0.3537	.	460;461;460	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	L	460;461;471;470;460	ENSP00000370196:P460L;ENSP00000252027:P461L;ENSP00000375097:P460L	ENSP00000336522:P470L	P	-	2	0	SBF1	49250166	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.603000	0.54074	2.156000	0.67533	0.591000	0.81541	CCC		0.642	SBF1-201	KNOWN	basic	protein_coding	protein_coding				A	50903300	G	A	50903300	3	1	80	1	0	0	0	0	1	0	0	0	13864	1232	43	2	4418	2	SBF1	22	50903300	Missense_Mutation	SNP	G	TCGA-A4-8630-01A-11D-2396-08		50903300	401266	53	5402											
H6PD	9563	hgsc.bcm.edu	37	1	9324818	9324818	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:9324818A>G	ENST00000377403.2	+	5	2568	c.2266A>G	c.(2266-2268)Acg>Gcg	p.T756A	H6PD_ENST00000602477.1_Missense_Mutation_p.T767A	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	756	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGATCACCACGCTGGTGAG	0.637																																																0													33	30	31					1																	9324818		2203	4297	6500	SO:0001583	missense	9563			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2266A>G	chr1.hg19:g.9324818A>G	ENSP00000366620:p.Thr756Ala		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	hg19	CCDS101.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.467516	0.01053	.	.	ENSG00000049239	ENST00000377403	T	0.39406	1.08	5.45	-10.9	0.00192	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.671970	0.15660	N	0.250971	T	0.16257	0.0391	N	0.11560	0.145	0.09310	N	1	B	0.28128	0.201	B	0.28385	0.089	T	0.14896	-1.0456	10	0.35671	T	0.21	-7.8807	9.3226	0.37973	0.6541:0.1684:0.1206:0.057	.	756	O95479	G6PE_HUMAN	A	756	ENSP00000366620:T756A	ENSP00000366620:T756A	T	+	1	0	H6PD	9247405	0.002000	0.14202	0.001000	0.08648	0.225000	0.24961	0.628000	0.24522	-3.386000	0.00174	-2.411000	0.00221	ACG		0.637	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		G	9324818	A	G	9324818	3	3	81	1	0	0	0	0	1	0	0	0	6938	159	6	3	2280	3	H6PD	1	9324818	Missense_Mutation	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10		9324818	239925803	1	5403											
SCP2	6342	hgsc.bcm.edu	37	1	53416459	53416459	+	Missense_Mutation	SNP	C	C	T	rs371605573		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:53416459C>T	ENST00000371514.3	+	4	400	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	SCP2_ENST00000407246.2_Missense_Mutation_p.H54Y|SCP2_ENST00000371513.5_Intron|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000528311.1_5'UTR	NM_002979.4	NP_002970.2	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GGCTATCTATCACAGTTTGGG	0.393																																																0													164	155	158					1																	53416459		2203	4300	6503	SO:0001583	missense	6342			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000371514.3:c.232C>T	chr1.hg19:g.53416459C>T	ENSP00000360569:p.His78Tyr		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000371514.3	hg19	CCDS572.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184073	0.57800	.	.	ENSG00000116171	ENST00000371514;ENST00000407246	D;D	0.94138	-2.66;-3.36	5.09	5.09	0.68999	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.095236	0.64402	D	0.000001	D	0.96015	0.8702	M	0.76838	2.35	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69307	0.96;0.963	D	0.94185	0.7435	10	0.17832	T	0.49	-12.7756	17.4125	0.87489	0.0:1.0:0.0:0.0	.	54;78	C9JC79;P22307	.;NLTP_HUMAN	Y	78;54	ENSP00000360569:H78Y;ENSP00000384569:H54Y	ENSP00000360569:H78Y	H	+	1	0	SCP2	53189047	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.914000	0.75764	2.629000	0.89072	0.563000	0.77884	CAC		0.393	SCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024740.2	NM_002979		T	53416459	C	T	53416459	3	4	81	1	0	0	0	0	1	0	0	0	13940	826	29	2	246	2	SCP2	1	53416459	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	44091641	53416459	195834162	2	5404											
PODN	127435	hgsc.bcm.edu	37	1	53535630	53535630	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:53535630G>T	ENST00000312553.5	+	2	254	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.G83C|PODN_ENST00000371500.3_Missense_Mutation_p.G64C	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	35	LRRNT.				negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCGAAGTGGCGGCCACAGCCT	0.697																																																0													10	14	13					1																	53535630		2187	4283	6470	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.247G>T	chr1.hg19:g.53535630G>T	ENSP00000308315:p.Gly83Cys		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	hg19	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	9.986	1.229555	0.22542	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.59502	0.91;0.26;1.02	4.19	-3.33	0.04958	.	1.673490	0.03184	N	0.172477	T	0.54532	0.1864	N	0.08118	0	0.09310	N	1	D;P;P	0.65815	0.995;0.545;0.545	D;B;B	0.65010	0.931;0.209;0.306	T	0.53927	-0.8369	10	0.56958	D	0.05	.	10.02	0.42037	0.6741:0.0:0.3259:0.0	.	83;64;83	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	C	64;83;83	ENSP00000360555:G64C;ENSP00000379212:G83C;ENSP00000308315:G83C	ENSP00000308315:G83C	G	+	1	0	PODN	53308218	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-1.213000	0.02991	-0.646000	0.05452	-0.424000	0.05967	GGC		0.697	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		T	53535630	G	T	53535630	3	4	81	1	0	0	0	0	1	0	0	0	12180	1116	39	4	253	4	PODN	1	53535630	Missense_Mutation	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	119171	53535630	195714991	3	5405											
WLS	79971	hgsc.bcm.edu	37	1	68697907	68697910	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	TTTG	TTTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:68697907_68697910delTTTG	ENST00000262348.4	-	1	326_329	c.73_76delCAAA	c.(73-78)caaatcfs	p.QI25fs	WLS_ENST00000354777.2_Frame_Shift_Del_p.QI25fs|WLS_ENST00000540432.1_Frame_Shift_Del_p.QI25fs|WLS_ENST00000370971.1_Frame_Shift_Del_p.QI25fs|WLS_ENST00000370976.3_Frame_Shift_Del_p.QI25fs	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	25					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AAGGCGATGATTTGGAACACGAGC	0.505																																																0																																										SO:0001589	frameshift_variant	79971			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.73_76delCAAA	chr1.hg19:g.68697907_68697910delTTTG	ENSP00000262348:p.Gln25fs		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Frame_Shift_Del	DEL	ENST00000262348.4	hg19	CCDS642.1																																																																																				0.505	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		-	68697910	TTTG	-	68697907	7	5	81	1	0	1	0	1	0	0	0	0	17381	1493	52	0	1723	0	WLS	1	68697907	Frame_Shift_Del	DEL	TTTG	TCGA-A4-A48D-01A-11D-A25F-10	15162277	68697907	180552714	4	5406											
NEXN	91624	hgsc.bcm.edu	37	1	78395127	78395127	+	Missense_Mutation	SNP	G	G	C	rs533331740		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:78395127G>C	ENST00000334785.7	+	9	1175	c.991G>C	c.(991-993)Gaa>Caa	p.E331Q	NEXN_ENST00000330010.8_Missense_Mutation_p.E267Q|NEXN_ENST00000457030.1_Missense_Mutation_p.E317Q	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		gaaagcagaagaagaagccag	0.388																																																0													91	91	91					1																	78395127		1854	4094	5948	SO:0001583	missense	91624			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.991G>C	chr1.hg19:g.78395127G>C	ENSP00000333938:p.Glu331Gln			Missense_Mutation	SNP	ENST00000334785.7	hg19	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.32|13.32	2.200748|2.200748	0.38905|0.38905	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T|.	0.69175|.	-0.38;0.01;0.03;0.1;-0.33|.	4.98|4.98	4.05|4.05	0.47172|0.47172	.|.	0.289025|.	0.24238|.	N|.	0.040288|.	T|T	0.49029|0.49029	0.1533|0.1533	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.16603|.	0.006;0.018;0.011;0.006|.	B;B;B;B|.	0.18263|.	0.021;0.016;0.016;0.016|.	T|T	0.48375|0.48375	-0.9041|-0.9041	10|5	0.30078|.	T|.	0.28|.	-4.9227|-4.9227	13.6045|13.6045	0.62039|0.62039	0.0:0.156:0.844:0.0|0.0:0.156:0.844:0.0	.|.	267;317;331;267|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	Q|N	267;317;267;331;317|230	ENSP00000383814:E267Q;ENSP00000388048:E317Q;ENSP00000327363:E267Q;ENSP00000333938:E331Q;ENSP00000411902:E317Q|.	ENSP00000327363:E267Q|.	E|K	+|+	1|3	0|2	NEXN|NEXN	78167715|78167715	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.850000|0.850000	0.48378|0.48378	4.893000|4.893000	0.63199|0.63199	1.207000|1.207000	0.43291|0.43291	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.388	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		C	78395127	G	C	78395127	3	2	81	1	0	0	0	0	1	0	0	0	10357	943	33	4	1021	4	NEXN	1	78395127	Missense_Mutation	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	9697220	78395127	170855494	5	5407											
SLC6A17	388662	hgsc.bcm.edu	37	1	110734657	110734657	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:110734657G>A	ENST00000331565.4	+	7	1413	c.928G>A	c.(928-930)Ggc>Agc	p.G310S		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	310					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTTTGCCTTGGGCCTGGGCTT	0.552																																																0													146	144	145					1																	110734657		2203	4300	6503	SO:0001583	missense	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.928G>A	chr1.hg19:g.110734657G>A	ENSP00000330199:p.Gly310Ser		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	hg19	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205508	0.79127	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.71579	-0.58	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75929	-0.3144	10	0.38643	T	0.18	.	18.2409	0.89967	0.0:0.0:1.0:0.0	.	310	Q9H1V8	S6A17_HUMAN	S	310	ENSP00000330199:G310S	ENSP00000330199:G310S	G	+	1	0	SLC6A17	110536180	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.414000	0.97362	2.298000	0.77334	0.650000	0.86243	GGC		0.552	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		A	110734657	G	A	110734657	3	1	81	1	0	0	0	0	1	0	0	0	14686	1232	43	2	950	2	SLC6A17	1	110734657	Missense_Mutation	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	32339530	110734657	138515964	6	5408											
SLC16A4	9122	hgsc.bcm.edu	37	1	110921516	110921516	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:110921516C>A	ENST00000369779.4	-	6	1238	c.989G>T	c.(988-990)gGg>gTg	p.G330V	SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000497687.1_5'Flank|SLC16A4_ENST00000437429.2_Missense_Mutation_p.G220V|SLC16A4_ENST00000541986.1_Missense_Mutation_p.G268V|SLC16A4_ENST00000472422.2_Missense_Mutation_p.G282V	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	330					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)	GATGTCAATCCCCAGTGTTTT	0.418																																																0													108	105	106					1																	110921516		2203	4300	6503	SO:0001583	missense	9122			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.989G>T	chr1.hg19:g.110921516C>A	ENSP00000358794:p.Gly330Val		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	hg19	CCDS823.1	.	.	.	.	.	.	.	.	.	.	c	19.00	3.741081	0.69304	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986;ENST00000467986	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	6.08	3.23	0.37069	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.367376	0.34156	N	0.004216	D	0.91005	0.7171	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.999	D;D;D;D	0.79784	0.993;0.986;0.982;0.986	D	0.91070	0.4892	10	0.87932	D	0	.	10.0556	0.42244	0.0:0.7928:0.0:0.2072	.	220;268;282;330	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	V	330;282;220;268;97	ENSP00000358794:G330V;ENSP00000432495:G282V;ENSP00000394790:G220V;ENSP00000446087:G268V;ENSP00000435768:G97V	ENSP00000358794:G330V	G	-	2	0	SLC16A4	110723039	0.996000	0.38824	0.271000	0.24616	0.894000	0.52154	3.296000	0.51802	0.463000	0.27118	-0.156000	0.13503	GGG		0.418	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		A	110921516	C	A	110921516	3	1	81	1	0	0	0	0	1	0	0	0	14416	623	22	4	490	4	SLC16A4	1	110921516	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	186859	110921516	138329105	7	5409											
ZNF687	57592	hgsc.bcm.edu	37	1	151261140	151261140	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:151261140T>G	ENST00000368879.2	+	3	2350	c.2252T>G	c.(2251-2253)cTc>cGc	p.L751R		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	751					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGACCCATCTCCGGGAGGCC	0.582																																																0													124	110	115					1																	151261140		2203	4300	6503	SO:0001583	missense	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2252T>G	chr1.hg19:g.151261140T>G	ENSP00000357874:p.Leu751Arg		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.623891|4.623891	0.87460|0.87460	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879|ENST00000426871	T;T;T|.	0.02032|.	4.49;4.49;4.49|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.32068|.	N|.	0.006627|.	T|T	0.51126|0.51126	0.1656|0.1656	L|L	0.48986|0.48986	1.54|1.54	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.991|.	T|T	0.51084|0.51084	-0.8750|-0.8750	10|5	0.66056|.	D|.	0.02|.	.|.	13.7947|13.7947	0.63164|0.63164	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	751;751|.	Q8N1G0-2;Q8N1G0|.	.;ZN687_HUMAN|.	R|A	751|354	ENSP00000336620:L751R;ENSP00000319829:L751R;ENSP00000357874:L751R|.	ENSP00000319829:L751R|.	L|S	+|+	2|1	0|0	ZNF687|ZNF687	149527764|149527764	0.994000|0.994000	0.37717|0.37717	0.765000|0.765000	0.31456|0.31456	0.997000|0.997000	0.91878|0.91878	7.803000|7.803000	0.85983|0.85983	2.098000|2.098000	0.63641|0.63641	0.459000|0.459000	0.35465|0.35465	CTC|TCC		0.582	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		G	151261140	T	G	151261140	3	3	81	1	0	0	0	0	1	0	0	0	18097	1551	54	5	2258	5	ZNF687	1	151261140	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10	40339624	151261140	97989481	8	5410											
DCST1	149095	hgsc.bcm.edu	37	1	155015935	155015935	+	Silent	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:155015935G>T	ENST00000295542.1	+	10	1218	c.1122G>T	c.(1120-1122)ctG>ctT	p.L374L	DCST1_ENST00000392480.1_Silent_p.L374L|RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000368419.2_Silent_p.L374L|DCST1_ENST00000423025.2_Silent_p.L349L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	374						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGTGGGCCCTGGGGCTGCTGC	0.687																																																0													51	52	52					1																	155015935		2203	4299	6502	SO:0001819	synonymous_variant	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1122G>T	chr1.hg19:g.155015935G>T			B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	hg19	CCDS1083.1																																																																																				0.687	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		T	155015935	G	T	155015935	2	4	81	1	0	0	0	0	0	0	0	1	4304	1335	47	4		4	DCST1	1	155015935	Silent	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	3754795	155015935	94234686	9	5411											
ADCY10	55811	hgsc.bcm.edu	37	1	167825476	167825476	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:167825476C>T	ENST00000367851.4	-	17	2282	c.2098G>A	c.(2098-2100)Gta>Ata	p.V700I	ADCY10_ENST00000545172.1_Missense_Mutation_p.V547I|ADCY10_ENST00000367848.1_Missense_Mutation_p.V608I	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	700					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTAGGCTGTACTGCACCAATG	0.458																																																0													315	265	282					1																	167825476		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2098G>A	chr1.hg19:g.167825476C>T	ENSP00000356825:p.Val700Ile		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	hg19	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	4.303	0.055518	0.08291	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.26223	1.76;1.75;1.76	5.16	-9.58	0.00559	.	0.951722	0.08707	N	0.905544	T	0.03695	0.0105	N	0.13043	0.29	0.21527	N	0.999654	B;B;B	0.19583	0.037;0.018;0.006	B;B;B	0.16289	0.015;0.007;0.003	T	0.43032	-0.9416	9	0.54805	T	0.06	-0.402	8.8296	0.35076	0.0:0.1525:0.2062:0.6412	.	547;608;700	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	I	547;700;608	ENSP00000441992:V547I;ENSP00000356825:V700I;ENSP00000356822:V608I	ENSP00000356822:V608I	V	-	1	0	ADCY10	166092100	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.529000	0.00945	-1.853000	0.01165	-0.440000	0.05779	GTA		0.458	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		T	167825476	C	T	167825476	3	4	81	1	0	0	0	0	1	0	0	0	293	565	20	2	2802	2	ADCY10	1	167825476	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	12809541	167825476	81425145	10	5412											
KCNT2	343450	hgsc.bcm.edu	37	1	196227503	196227503	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:196227503C>T	ENST00000294725.9	-	26	3947	c.3032G>A	c.(3031-3033)cGg>cAg	p.R1011Q	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.R944Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.R945Q|KCNT2_ENST00000367433.5_Missense_Mutation_p.R987Q			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1011					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTTTTTCTCCGCAGCAAGGG	0.517																																																0													169	140	150					1																	196227503		2203	4300	6503	SO:0001583	missense	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3032G>A	chr1.hg19:g.196227503C>T	ENSP00000294725:p.Arg1011Gln		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	hg19	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507711	0.64410	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.36699	1.37;1.24;1.88	5.74	4.83	0.62350	.	0.000000	0.53938	D	0.000058	T	0.61999	0.2392	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.987;0.995;0.987;0.988	T	0.67799	-0.5577	10	0.66056	D	0.02	-9.2458	14.7148	0.69259	0.0:0.9307:0.0:0.0693	.	976;987;944;1011	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	Q	987;945;1011	ENSP00000356403:R987Q;ENSP00000356401:R945Q;ENSP00000294725:R1011Q	ENSP00000294725:R1011Q	R	-	2	0	KCNT2	194494126	1.000000	0.71417	0.995000	0.50966	0.305000	0.27757	7.487000	0.81328	1.437000	0.47472	-0.148000	0.13756	CGG		0.517	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		T	196227503	C	T	196227503	3	4	81	1	0	0	0	0	1	0	0	0	8094	652	23	1	387	1	KCNT2	1	196227503	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	28402027	196227503	53023118	11	5413											
CHI3L1	1116	hgsc.bcm.edu	37	1	203151959	203151959	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr1:203151959T>C	ENST00000255409.3	-	6	612	c.487A>G	c.(487-489)Aag>Gag	p.K163E		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	163					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGGGCTTCCTTTATAAATTCG	0.537																																																0													67	62	64					1																	203151959		2203	4300	6503	SO:0001583	missense	1116			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.487A>G	chr1.hg19:g.203151959T>C	ENSP00000255409:p.Lys163Glu		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	hg19	CCDS1435.1	.	.	.	.	.	.	.	.	.	.	T	4.508	0.094296	0.08632	.	.	ENSG00000133048	ENST00000255409	T	0.05996	3.36	5.51	-0.134	0.13481	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.813254	0.10863	N	0.625821	T	0.03959	0.0111	N	0.17723	0.515	0.09310	N	1	B	0.16802	0.019	B	0.19391	0.025	T	0.48547	-0.9026	10	0.12430	T	0.62	-9.5251	8.5461	0.33421	0.0:0.0823:0.5959:0.3217	.	163	P36222	CH3L1_HUMAN	E	163	ENSP00000255409:K163E	ENSP00000255409:K163E	K	-	1	0	CHI3L1	201418582	0.000000	0.05858	0.037000	0.18230	0.460000	0.32559	-0.071000	0.11505	0.013000	0.14918	0.459000	0.35465	AAG		0.537	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		C	203151959	T	C	203151959	3	2	81	1	0	0	0	0	1	0	0	0	3342	1850	64	3	684	3	CHI3L1	1	203151959	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10	6924456	203151959	46098662	12	5414											
APOB	338	hgsc.bcm.edu	37	2	21227463	21227463	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:21227463T>C	ENST00000233242.1	-	27	12000	c.11873A>G	c.(11872-11874)tAt>tGt	p.Y3958C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3958					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTTCTTCATATTCTGCACT	0.363																																																0													155	147	150					2																	21227463		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11873A>G	chr2.hg19:g.21227463T>C	ENSP00000233242:p.Tyr3958Cys		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.236382	0.39498	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.20200	2.09	5.99	5.99	0.97316	.	0.000000	0.56097	D	0.000034	T	0.44623	0.1302	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.45086	-0.9285	10	0.87932	D	0	.	10.0499	0.42210	0.0:0.0741:0.0:0.9259	.	3958	P04114	APOB_HUMAN	C	3958	ENSP00000233242:Y3958C	ENSP00000233242:Y3958C	Y	-	2	0	APOB	21080968	0.999000	0.42202	0.067000	0.19924	0.123000	0.20343	3.693000	0.54735	2.291000	0.77112	0.533000	0.62120	TAT		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21227463	T	C	21227463	3	2	81	1	0	0	0	0	1	0	0	0	785	1406	49	3	1830	3	APOB	2	21227463	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10		21227463	221971910	13	5415											
C2orf71	388939	hgsc.bcm.edu	37	2	29295663	29295663	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:29295663G>A	ENST00000331664.5	-	1	1464	c.1465C>T	c.(1465-1467)Cca>Tca	p.P489S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	489					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCCTCCTCTGGGCTGCTGTCC	0.527																																																0													83	86	85					2																	29295663		2105	4227	6332	SO:0001583	missense	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1465C>T	chr2.hg19:g.29295663G>A	ENSP00000332809:p.Pro489Ser			Missense_Mutation	SNP	ENST00000331664.5	hg19	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	1.537	-0.542885	0.04053	.	.	ENSG00000179270	ENST00000331664	T	0.18016	2.24	5.3	-0.867	0.10655	.	0.860292	0.10501	N	0.667309	T	0.05227	0.0139	N	0.05199	-0.095	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.40117	-0.9580	10	0.05525	T	0.97	-0.0051	2.483	0.04592	0.3929:0.1103:0.3836:0.1132	.	489	A6NGG8	CB071_HUMAN	S	489	ENSP00000332809:P489S	ENSP00000332809:P489S	P	-	1	0	C2orf71	29149167	0.015000	0.18098	0.442000	0.26870	0.446000	0.32137	0.072000	0.14617	-0.228000	0.09869	-1.036000	0.02392	CCA		0.527	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		A	29295663	G	A	29295663	3	1	81	1	0	0	0	0	1	0	0	0	2193	1232	43	2	2409	2	C2orf71	2	29295663	Missense_Mutation	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	8068200	29295663	213903710	14	5416											
LRP2	4036	hgsc.bcm.edu	37	2	170012842	170012842	+	Silent	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:170012842G>T	ENST00000263816.3	-	65	12378	c.12093C>A	c.(12091-12093)gtC>gtA	p.V4031V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4031	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CATCAGCACAGACACACTCAT	0.438																																																0													199	183	188					2																	170012842		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12093C>A	chr2.hg19:g.170012842G>T			O00711|Q16215	Silent	SNP	ENST00000263816.3	hg19	CCDS2232.1																																																																																				0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170012842	G	T	170012842	2	4	81	1	0	0	0	0	0	0	0	1	8958	929	33	4		4	LRP2	2	170012842	Silent	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	140717179	170012842	73186531	15	5417											
GIGYF2	26058	hgsc.bcm.edu	37	2	233676027	233676029	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr2:233676027_233676029delCTT	ENST00000409547.1	+	19	2283_2285	c.1972_1974delCTT	c.(1972-1974)cttdel	p.L660del	GIGYF2_ENST00000452341.2_In_Frame_Del_p.L491del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.L660del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.L682del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.L654del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.L682del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.L681del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	660	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAGTTGGCACTTCTTCTTCAAC	0.414																																																0																																										SO:0001651	inframe_deletion	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1972_1974delCTT	chr2.hg19:g.233676033_233676035delCTT	ENSP00000386537:p.Leu660del		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	hg19	CCDS33401.1																																																																																				0.414	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		-	233676029	CTT	-	233676027	7	5	81	1	0	1	0	1	0	0	0	0	6380	565	20	0	2100	0	GIGYF2	2	233676027	In_Frame_Del	DEL	CTT	TCGA-A4-A48D-01A-11D-A25F-10	63663185	233676027	9523346	16	5418											
ITPR1	3708	hgsc.bcm.edu	37	3	4878618	4878618	+	Splice_Site	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:4878618A>C	ENST00000443694.2	+	58	8144	c.8144A>C	c.(8143-8145)cAg>cCg	p.Q2715P	ITPR1_ENST00000302640.8_Splice_Site_p.Q2715P|ITPR1_ENST00000357086.4_Splice_Site_p.Q2682P|ITPR1_ENST00000456211.2_Splice_Site_p.Q2667P|ITPR1_ENST00000544951.1_Splice_Site_p.Q693P|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000423119.2_Splice_Site_p.Q2682P|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000354582.6_Splice_Site_p.Q2715P			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2730					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTAAAGGATCAGGTAAAGAAA	0.488																																																0													43	42	42					3																	4878618		1916	4131	6047	SO:0001630	splice_region_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.8145+1A>C	chr3.hg19:g.4878618A>C			E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802091	0.90538	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.91996	-2.94;-2.95;-2.95;-2.95;-2.95;-1.79;-2.94	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.95928	0.8674	M	0.77486	2.375	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;P;D	0.78314	0.979;0.893;0.991	D	0.95864	0.8885	10	0.54805	T	0.06	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	693;2730;2682	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	P	2730;2715;2715;2682;1176;2682;2667;693;2715	ENSP00000306253:Q2715P;ENSP00000346595:Q2715P;ENSP00000405934:Q2682P;ENSP00000349597:Q2682P;ENSP00000397885:Q2667P;ENSP00000440564:Q693P;ENSP00000401671:Q2715P	ENSP00000306253:Q2715P	Q	+	2	0	ITPR1	4853618	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.243000	0.95416	2.324000	0.78689	0.533000	0.62120	CAG		0.488	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	Missense_Mutation	C	4878618	A	C	4878618	5	2	81	1	0	0	0	0	0	0	1	0	7922	202	7	5	8423	5	ITPR1	3	4878618	Splice_Site	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10		4878618	193143812	17	5419											
SH3BP5	9467	hgsc.bcm.edu	37	3	15298471	15298471	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:15298471G>A	ENST00000383791.3	-	8	1259	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	SH3BP5_ENST00000426925.1_Silent_p.L190L|SH3BP5_ENST00000408919.3_Silent_p.L190L|SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000253688.5_Silent_p.L190L	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	347	Ser-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GGCAGATCCAGGCTGCCAGGC	0.587																																																0													73	63	67					3																	15298471		2203	4300	6503	SO:0001819	synonymous_variant	9467			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"SH3 binding protein"	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.1039C>T	chr3.hg19:g.15298471G>A			B3KQW6|Q5JWV9	Silent	SNP	ENST00000383791.3	hg19	CCDS2625.2																																																																																				0.587	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		A	15298471	G	A	15298471	2	1	81	1	0	0	0	0	0	0	0	1	14253	991	35	2		2	SH3BP5	3	15298471	Silent	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	10419853	15298471	182723959	18	5420											
ANKRD28	23243	hgsc.bcm.edu	37	3	15765925	15765925	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:15765925G>A	ENST00000399451.2	-	7	1024	c.657C>T	c.(655-657)atC>atT	p.I219I	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.I252I	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	219						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGACTACGCTGATCATTCCAC	0.363																																																0													56	53	54					3																	15765925		1940	4139	6079	SO:0001819	synonymous_variant	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.657C>T	chr3.hg19:g.15765925G>A			B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Silent	SNP	ENST00000399451.2	hg19	CCDS46769.1																																																																																				0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		A	15765925	G	A	15765925	2	1	81	1	0	0	0	0	0	0	0	1	656	1280	45	2		2	ANKRD28	3	15765925	Silent	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	467454	15765925	182256505	19	5421											
SLC22A13	9390	hgsc.bcm.edu	37	3	38316203	38316203	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:38316203T>C	ENST00000311856.4	+	3	640	c.591T>C	c.(589-591)gcT>gcC	p.A197A	SLC22A13_ENST00000450935.2_Intron	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	197					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGCGCTTTGCTGTGGCTACTG	0.617																																																0													72	68	69					3																	38316203		2203	4300	6503	SO:0001819	synonymous_variant	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.591T>C	chr3.hg19:g.38316203T>C			B2RCV9|Q8IYG1	Silent	SNP	ENST00000311856.4	hg19	CCDS2676.1																																																																																				0.617	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		C	38316203	T	C	38316203	2	2	81	1	0	0	0	0	0	0	0	1	14450	1567	55	3		3	SLC22A13	3	38316203	Silent	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10	22550278	38316203	159706227	20	5422											
VIPR1	7433	hgsc.bcm.edu	37	3	42577629	42577629	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:42577629C>T	ENST00000325123.4	+	13	1343	c.1230C>T	c.(1228-1230)ggC>ggT	p.G410G	VIPR1_ENST00000438259.2_Silent_p.G200G|VIPR1_ENST00000543411.1_Silent_p.G362G|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000433647.1_Silent_p.G369G|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000608869.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	410					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACCTGCAGGGCGTCCTGGGCT	0.682																																																0													14	17	16					3																	42577629		2190	4293	6483	SO:0001819	synonymous_variant	7433			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.1230C>T	chr3.hg19:g.42577629C>T			A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	ENST00000325123.4	hg19	CCDS2698.1																																																																																				0.682	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		T	42577629	C	T	42577629	2	4	81	1	0	0	0	0	0	0	0	1	17174	755	27	1		1	VIPR1	3	42577629	Silent	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	4261426	42577629	155444801	21	5423											
ROPN1	54763	hgsc.bcm.edu	37	3	123695737	123695737	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:123695737C>G	ENST00000184183.4	-	4	548	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	ROPN1_ENST00000405845.3_Missense_Mutation_p.E70Q	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	70						cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		TTTAACAGCTCAGGTGTTAGC	0.542																																																0													97	86	90					3																	123695737		2203	4300	6503	SO:0001583	missense	54763			AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"cancer/testis antigen 91"	611757	"ropporin, rhophilin associated protein 1"			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.208G>C	chr3.hg19:g.123695737C>G	ENSP00000184183:p.Glu70Gln		D3DN99|Q9UF38	Missense_Mutation	SNP	ENST00000184183.4	hg19	CCDS3026.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599790	0.46318	.	.	ENSG00000065371	ENST00000184183;ENST00000405845;ENST00000467907;ENST00000460743;ENST00000495336;ENST00000496145	T;T;T;T	0.31247	1.99;1.99;1.99;1.5	4.37	4.37	0.52481	.	0.000000	0.56097	D	0.000025	T	0.22282	0.0537	N	0.22421	0.69	0.80722	D	1	P	0.41313	0.745	B	0.38803	0.282	T	0.04870	-1.0921	10	0.46703	T	0.11	-26.3117	14.1277	0.65233	0.0:1.0:0.0:0.0	.	70	Q9HAT0	ROP1A_HUMAN	Q	70	ENSP00000184183:E70Q;ENSP00000385919:E70Q;ENSP00000417067:E70Q;ENSP00000420310:E70Q	ENSP00000184183:E70Q	E	-	1	0	ROPN1	125178427	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	4.230000	0.58632	2.304000	0.77564	0.551000	0.68910	GAG		0.542	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		G	123695737	C	G	123695737	3	3	81	1	0	0	0	0	1	0	0	0	13529	835	29	4	446	4	ROPN1	3	123695737	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	81118108	123695737	74326693	22	5424											
MME	4311	hgsc.bcm.edu	37	3	154855893	154855893	+	Silent	SNP	T	T	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr3:154855893T>A	ENST00000460393.1	+	9	843	c.723T>A	c.(721-723)gcT>gcA	p.A241A	MME_ENST00000360490.2_Silent_p.A241A|MME_ENST00000462745.1_Silent_p.A241A|MME_ENST00000492661.1_Silent_p.A241A|MME_ENST00000493237.1_Silent_p.A241A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	241					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TCTTGCAGGCTTGTACAGCAT	0.323																																																0													153	163	160					3																	154855893		2203	4300	6503	SO:0001819	synonymous_variant	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.723T>A	chr3.hg19:g.154855893T>A			A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	hg19	CCDS3172.1																																																																																				0.323	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		A	154855893	T	A	154855893	2	1	81	1	0	0	0	0	0	0	0	1	9647	1596	56	5		5	MME	3	154855893	Silent	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10	31160156	154855893	43166537	23	5425											
GPR125	166647	hgsc.bcm.edu	37	4	22436990	22436990	+	Missense_Mutation	SNP	C	C	G	rs146147575		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:22436990C>G	ENST00000334304.5	-	10	1656	c.1387G>C	c.(1387-1389)Gtg>Ctg	p.V463L	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.V463L|GPR125_ENST00000508133.1_Missense_Mutation_p.V237L	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	463					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATTTCTGCCACAAATATAACA	0.388																																																0								C	LEU/VAL	1,4405	2.1+/-5.4	0,1,2202	81	80	80		1387	5.4	1	4	dbSNP_134	80	0,8600		0,0,4300	no	missense	GPR125	NM_145290.2	32	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging	463/1322	22436990	1,13005	2203	4300	6503	SO:0001583	missense	166647			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1387G>C	chr4.hg19:g.22436990C>G	ENSP00000334952:p.Val463Leu		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	hg19	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434578	0.62955	2.27E-4	0.0	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T;T	0.41400	1.0;1.0;1.0	5.42	5.42	0.78866	.	0.063133	0.64402	D	0.000006	T	0.45955	0.1368	L	0.38175	1.15	0.58432	D	0.999998	D;B;P;D	0.53312	0.957;0.448;0.851;0.959	P;B;P;P	0.49561	0.615;0.283;0.546;0.556	T	0.38243	-0.9670	10	0.48119	T	0.1	-35.6945	19.2098	0.93749	0.0:1.0:0.0:0.0	.	338;463;237;463	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	L	463;237;463	ENSP00000334952:V463L;ENSP00000422606:V237L;ENSP00000421006:V463L	ENSP00000334952:V463L	V	-	1	0	GPR125	22046088	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.377000	0.59562	2.528000	0.85240	0.563000	0.77884	GTG		0.388	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			G	22436990	C	G	22436990	3	3	81	1	0	0	0	0	1	0	0	0	6641	478	17	4	2618	4	GPR125	4	22436990	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10		22436990	168717286	24	5426											
TMEM156	80008	hgsc.bcm.edu	37	4	38988027	38988027	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:38988027T>A	ENST00000381938.3	-	5	859	c.752A>T	c.(751-753)aAa>aTa	p.K251I		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	251						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGATGTAGGTTTGTCTCTATG	0.373																																																0													97	87	90					4																	38988027		2203	4300	6503	SO:0001583	missense	80008			AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.752A>T	chr4.hg19:g.38988027T>A	ENSP00000371364:p.Lys251Ile		Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	hg19	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	T	9.849	1.193176	0.22037	.	.	ENSG00000121895	ENST00000381938	T	0.26660	1.72	5.08	-0.654	0.11443	.	0.927636	0.09222	N	0.831791	T	0.25457	0.0619	L	0.48642	1.525	0.09310	N	1	P	0.43701	0.815	P	0.46389	0.515	T	0.20874	-1.0262	10	0.54805	T	0.06	-3.0832	4.5798	0.12253	0.0:0.1723:0.3153:0.5124	.	251	Q8N614	TM156_HUMAN	I	251	ENSP00000371364:K251I	ENSP00000371364:K251I	K	-	2	0	TMEM156	38664422	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.171000	0.16685	-0.126000	0.11682	0.379000	0.24179	AAA		0.373	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943		A	38988027	T	A	38988027	3	1	81	1	0	0	0	0	1	0	0	0	16078	1841	64	5	146	5	TMEM156	4	38988027	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10	16551037	38988027	152166249	25	5427											
HSPA4L	22824	hgsc.bcm.edu	37	4	128726257	128726266	+	Frame_Shift_Del	DEL	GAAATTGTAG	GAAATTGTAG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	GAAATTGTAG	GAAATTGTAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:128726257_128726266delGAAATTGTAG	ENST00000296464.4	+	9	1426_1435	c.1015_1024delGAAATTGTAG	c.(1015-1026)gaaattgtaggafs	p.EIVG339fs	HSPA4L_ENST00000508776.1_Frame_Shift_Del_p.EIVG339fs|HSPA4L_ENST00000505726.1_Frame_Shift_Del_p.EIVG313fs|HSPA4L_ENST00000439123.2_Frame_Shift_Del_p.EIVG370fs	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	339					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAGTAGTATAGAAATTGTAGGAGGAGCAAC	0.333																																																0																																										SO:0001589	frameshift_variant	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1015_1024delGAAATTGTAG	chr4.hg19:g.128726257_128726266delGAAATTGTAG	ENSP00000296464:p.Glu339fs		A2ICT2|Q4W5M5|Q8IWA2	Frame_Shift_Del	DEL	ENST00000296464.4	hg19	CCDS3734.1																																																																																				0.333	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		-	128726266	GAAATTGTAG	-	128726257	7	5	81	1	0	1	0	1	0	0	0	0	7415	943	33	0	1049	0	HSPA4L	4	128726257	Frame_Shift_Del	DEL	GAAATTGTAG	TCGA-A4-A48D-01A-11D-A25F-10	89738230	128726257	62428019	26	5428											
TIGD4	201798	hgsc.bcm.edu	37	4	153691183	153691183	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr4:153691183C>T	ENST00000304337.2	-	2	1794	c.974G>A	c.(973-975)aGc>aAc	p.S325N		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	325	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GATTTTAAGGCTTTTAATAAC	0.323																																																0													75	78	77					4																	153691183		2203	4300	6503	SO:0001583	missense	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.974G>A	chr4.hg19:g.153691183C>T	ENSP00000355162:p.Ser325Asn		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	hg19	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	1.757	-0.487660	0.04352	.	.	ENSG00000169989	ENST00000304337	T	0.45276	0.9	6.03	4.22	0.49857	.	0.326215	0.26620	N	0.023365	T	0.25938	0.0632	N	0.21448	0.665	0.27351	N	0.956258	B	0.17268	0.021	B	0.16289	0.015	T	0.12863	-1.0531	10	0.21540	T	0.41	-2.7406	8.7415	0.34560	0.0:0.7308:0.1218:0.1475	.	325	Q8IY51	TIGD4_HUMAN	N	325	ENSP00000355162:S325N	ENSP00000355162:S325N	S	-	2	0	TIGD4	153910633	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	1.186000	0.32078	1.465000	0.48006	-0.345000	0.07892	AGC		0.323	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		T	153691183	C	T	153691183	3	4	81	1	0	0	0	0	1	0	0	0	15903	797	28	2	568	2	TIGD4	4	153691183	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	24964926	153691183	37463093	27	5429											
NIPBL	25836	hgsc.bcm.edu	37	5	37017244	37017247	+	Frame_Shift_Del	DEL	ATAG	ATAG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	ATAG	ATAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:37017244_37017247delATAG	ENST00000282516.8	+	24	5399_5402	c.4900_4903delATAG	c.(4900-4905)atagaafs	p.IE1634fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.IE1634fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1634					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.E1635K(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAAGGATCTATAGAACGCATTTT	0.333																																																2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4900_4903delATAG	chr5.hg19:g.37017244_37017247delATAG	ENSP00000282516:p.Ile1634fs		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	hg19	CCDS3920.1																																																																																				0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		-	37017247	ATAG	-	37017244	7	5	81	1	0	1	0	1	0	0	0	0	10430	449	16	0	4990	0	NIPBL	5	37017244	Frame_Shift_Del	DEL	ATAG	TCGA-A4-A48D-01A-11D-A25F-10		37017244	143898016	28	5430											
MAST4	375449	hgsc.bcm.edu	37	5	66449317	66449318	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:66449317_66449318CA>AT	ENST00000403625.2	+	26	3852_3853	c.3557_3558CA>AT	c.(3556-3558)gCA>gAT	p.A1186D	MAST4_ENST00000261569.7_Missense_Mutation_p.A992D|MAST4_ENST00000404260.3_Missense_Mutation_p.A1189D|MAST4_ENST00000405643.1_Missense_Mutation_p.A1007D|MAST4_ENST00000403666.1_Missense_Mutation_p.A997D	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1189	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCATGCCAGGCAGGACTGAAGG	0.441																																																0																																										SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	Exception_encountered	chr5.hg19:g.66449317_66449318delinsAT	ENSP00000385727:p.Ala1186Asp		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation|Silent	SNP	ENST00000403625.2	hg19	CCDS54861.1																																																																																				0.441	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			AT	66449318	CA	AT	66449317	3	1	81	1	0	0	0	0	1	0	0	0	9329	710	25	4	3789	4	MAST4	5	66449317	Missense_Mutation	DNP	CA	TCGA-A4-A48D-01A-11D-A25F-10	29432073	66449317	114465943	29	5431											
VCAN	1462	hgsc.bcm.edu	37	5	82808191	82808191	+	Silent	SNP	A	A	C	rs558902507		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:82808191A>C	ENST00000265077.3	+	6	1583	c.1018A>C	c.(1018-1020)Aga>Cga	p.R340R	VCAN_ENST00000343200.5_Silent_p.R340R|VCAN_ENST00000502527.2_Silent_p.R340R|VCAN_ENST00000342785.4_Silent_p.R340R|VCAN_ENST00000513984.1_Silent_p.R340R|VCAN_ENST00000512590.2_Silent_p.R292R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	340	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCCTGATAGCAGATTTGATGC	0.448																																																0													64	68	67					5																	82808191		2203	4300	6503	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1018A>C	chr5.hg19:g.82808191A>C			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	hg19	CCDS4060.1																																																																																				0.448	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		C	82808191	A	C	82808191	2	2	81	1	0	0	0	0	0	0	0	1	17143	180	7	5		5	VCAN	5	82808191	Silent	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10	16358874	82808191	98107069	30	5432											
TXNDC15	79770	hgsc.bcm.edu	37	5	134223683	134223688	+	In_Frame_Del	DEL	TGGCGC	TGGCGC	-	rs144331590		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	TGGCGC	TGGCGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:134223683_134223688delTGGCGC	ENST00000358387.4	+	2	1027_1032	c.402_407delTGGCGC	c.(400-408)gatggcgct>gat	p.GA137del	TXNDC15_ENST00000546290.1_In_Frame_Del_p.GA114del	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	137					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.G135G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTCTCTGGATGGCGCTGGAGCACAC	0.558																																																1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001651	inframe_deletion	79770			AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 14"	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.402_407delTGGCGC	chr5.hg19:g.134223683_134223688delTGGCGC	ENSP00000351157:p.Gly137_Ala138del		D3DQA9|Q96MT2|Q9H639	In_Frame_Del	DEL	ENST00000358387.4	hg19	CCDS4180.1																																																																																				0.558	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		-	134223688	TGGCGC	-	134223683	7	5	81	1	0	1	0	1	0	0	0	0	16799	1461	51	0	408	0	TXNDC15	5	134223683	In_Frame_Del	DEL	TGGCGC	TCGA-A4-A48D-01A-11D-A25F-10	51415492	134223683	46691577	31	5433											
BRD8	10902	hgsc.bcm.edu	37	5	137506838	137506838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr5:137506838delC	ENST00000254900.5	-	5	619	c.248delG	c.(247-249)ggtfs	p.G83fs	BRD8_ENST00000230901.5_Frame_Shift_Del_p.G83fs|BRD8_ENST00000402931.1_Frame_Shift_Del_p.G83fs|BRD8_ENST00000411594.2_Frame_Shift_Del_p.G83fs|BRD8_ENST00000455658.2_Frame_Shift_Del_p.G42fs	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	83					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCCCTTTTCACCTCGTTTCCG	0.353																																																0													98	99	99					5																	137506838		2203	4300	6503	SO:0001589	frameshift_variant	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.248delG	chr5.hg19:g.137506838delC	ENSP00000254900:p.Gly83fs		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Frame_Shift_Del	DEL	ENST00000254900.5	hg19	CCDS4198.1																																																																																				0.353	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		-	137506838	C	-	137506838	7	5	81	1	0	1	0	1	0	0	0	0	1508	507	18	0	3838	0	BRD8	5	137506838	Frame_Shift_Del	DEL	C	TCGA-A4-A48D-01A-11D-A25F-10	3283155	137506838	43408422	32	5434											
HUS1B	135458	hgsc.bcm.edu	37	6	656335	656335	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:656335A>T	ENST00000380907.2	-	1	628	c.610T>A	c.(610-612)Ttt>Att	p.F204I	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	204					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		AGATTTTTAAAATAACTTTGA	0.532																																																0													96	107	103					6																	656335		2203	4300	6503	SO:0001583	missense	135458			AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"HUS1 (S. pombe) checkpoint homolog b"			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.610T>A	chr6.hg19:g.656335A>T	ENSP00000370293:p.Phe204Ile		Q5T4Z2	Missense_Mutation	SNP	ENST00000380907.2	hg19	CCDS4470.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279334	0.59758	.	.	ENSG00000188996	ENST00000380907	T	0.17854	2.25	3.61	2.42	0.29668	.	0.143577	0.46442	U	0.000298	T	0.21801	0.0525	M	0.79011	2.435	0.58432	D	0.999996	D	0.69078	0.997	D	0.63381	0.914	T	0.02104	-1.1213	10	0.59425	D	0.04	.	5.756	0.18172	0.871:0.0:0.129:0.0	.	204	Q8NHY5	HUS1B_HUMAN	I	204	ENSP00000370293:F204I	ENSP00000370293:F204I	F	-	1	0	HUS1B	601335	0.999000	0.42202	0.011000	0.14972	0.048000	0.14542	1.596000	0.36718	0.560000	0.29169	0.533000	0.62120	TTT		0.532	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		T	656335	A	T	656335	3	4	81	1	0	0	0	0	1	0	0	0	7462	14	1	5	230	5	HUS1B	6	656335	Missense_Mutation	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10		656335	170458732	33	5435											
RHAG	6005	hgsc.bcm.edu	37	6	49586991	49586991	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:49586991C>T	ENST00000371175.4	-	2	268	c.242G>A	c.(241-243)gGt>gAt	p.G81D	RHAG_ENST00000229810.7_Missense_Mutation_p.G81D	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	81					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TAGGTTGATACCCACACTGCT	0.443																																					Ovarian(176;476 2003 7720 43408 44749)											0													112	95	101					6																	49586991		2203	4300	6503	SO:0001583	missense	6005				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.242G>A	chr6.hg19:g.49586991C>T	ENSP00000360217:p.Gly81Asp		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	hg19	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972877	0.74246	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.24538	1.85;1.85	5.62	5.62	0.85841	Ammonium transporter AmtB-like (3);	0.043100	0.85682	D	0.000000	T	0.59211	0.2177	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76071	0.987;0.987;0.983	T	0.71497	-0.4575	10	0.87932	D	0	-11.5221	18.6546	0.91448	0.0:1.0:0.0:0.0	.	81;81;81	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	D	81	ENSP00000360217:G81D;ENSP00000229810:G81D	ENSP00000229810:G81D	G	-	2	0	RHAG	49694950	1.000000	0.71417	0.938000	0.37757	0.238000	0.25445	7.792000	0.85828	2.640000	0.89533	0.591000	0.81541	GGT		0.443	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			T	49586991	C	T	49586991	3	4	81	1	0	0	0	0	1	0	0	0	13321	507	18	2	1023	2	RHAG	6	49586991	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	48930656	49586991	121528076	34	5436											
CD164	8763	hgsc.bcm.edu	37	6	109690201	109690201	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:109690201C>T	ENST00000310786.4	-	6	512	c.447G>A	c.(445-447)gtG>gtA	p.V149V	CD164_ENST00000324953.5_Silent_p.V130V|CD164_ENST00000275080.7_Silent_p.V136V|CD164_ENST00000413644.2_Silent_p.V149V|CD164_ENST00000368961.5_Silent_p.V117V|CD164_ENST00000504373.1_Silent_p.V115V|CD164_ENST00000512821.1_Intron|CD164_ENST00000506649.1_5'UTR	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	149	Thr-rich.				cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		AGGTTGGAGTCACAGTGTTAT	0.408																																																0													114	96	102					6																	109690201		2203	4300	6503	SO:0001819	synonymous_variant	8763			AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"CD molecules"	1632	protein-coding gene	gene with protein product		603356	"CD164 antigen, sialomucin"			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.447G>A	chr6.hg19:g.109690201C>T			B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Silent	SNP	ENST00000310786.4	hg19	CCDS5073.1																																																																																				0.408	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	NM_006016		T	109690201	C	T	109690201	2	4	81	1	0	0	0	0	0	0	0	1	2971	813	29	2		2	CD164	6	109690201	Silent	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	60103210	109690201	61424866	35	5437											
SNX9	51429	hgsc.bcm.edu	37	6	158330822	158330822	+	Splice_Site	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr6:158330822T>G	ENST00000392185.3	+	8	1002	c.831T>G	c.(829-831)acT>acG	p.T277T		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	277	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TAACACCTACTGTAAGTATCC	0.393																																																0													172	168	169					6																	158330822		2203	4300	6503	SO:0001630	splice_region_variant	51429			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.831+1T>G	chr6.hg19:g.158330822T>G			Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Silent	SNP	ENST00000392185.3	hg19	CCDS5253.1																																																																																				0.393	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1		Silent	G	158330822	T	G	158330822	5	3	81	1	0	0	0	0	0	0	1	0	14915	1594	55	5	861	5	SNX9	6	158330822	Splice_Site	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10	48640621	158330822	12784245	36	5438											
MICALL2	79778	hgsc.bcm.edu	37	7	1478499	1478499	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:1478499T>G	ENST00000297508.7	-	10	2274	c.2099A>C	c.(2098-2100)aAa>aCa	p.K700T	MICALL2_ENST00000405088.4_Missense_Mutation_p.K488T|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	700	Forms an intramolecular interaction with the N-terminal CH and LIM zinc-binding domains-containing region keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AAGGTGAGGTTTCTTCTCCTC	0.632																																																0													80	79	79					7																	1478499		2203	4300	6503	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2099A>C	chr7.hg19:g.1478499T>G	ENSP00000297508:p.Lys700Thr		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	hg19	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	T	7.035	0.561374	0.13498	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.71698	2.33;-0.59	1.61	-2.18	0.07037	.	0.219361	0.22804	N	0.055427	T	0.42449	0.1203	N	0.24115	0.695	0.09310	N	1	B;P	0.42908	0.267;0.793	B;B	0.37601	0.039;0.254	T	0.41822	-0.9487	10	0.24483	T	0.36	.	1.4582	0.02390	0.3162:0.2383:0.0:0.4454	.	700;488	Q8IY33;D3YTD2	MILK2_HUMAN;.	T	488;700	ENSP00000385928:K488T;ENSP00000297508:K700T	ENSP00000297508:K700T	K	-	2	0	MICALL2	1445025	0.000000	0.05858	0.003000	0.11579	0.171000	0.22731	-0.124000	0.10595	-0.123000	0.11745	0.260000	0.18958	AAA		0.632	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		G	1478499	T	G	1478499	3	3	81	1	0	0	0	0	1	0	0	0	9576	1841	64	5	647	5	MICALL2	7	1478499	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10		1478499	157660164	37	5439											
HIBADH	11112	hgsc.bcm.edu	37	7	27582616	27582616	+	Silent	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:27582616C>G	ENST00000265395.2	-	5	794	c.588G>C	c.(586-588)gtG>gtC	p.V196V		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	196					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			CACAGTACACCACGTTGGAGC	0.468																																																0													97	87	91					7																	27582616		2203	4300	6503	SO:0001819	synonymous_variant	11112			AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.588G>C	chr7.hg19:g.27582616C>G			Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	hg19	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	C	7.289	0.610641	0.14066	.	.	ENSG00000106049	ENST00000425715	.	.	.	6.02	4.21	0.49690	.	.	.	.	.	T	0.58104	0.2099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53760	-0.8393	4	.	.	.	-2.1097	7.8405	0.29395	0.1159:0.6925:0.0:0.1916	.	.	.	.	S	139	.	.	W	-	2	0	HIBADH	27549141	0.993000	0.37304	0.856000	0.33681	0.715000	0.41141	0.664000	0.25068	0.865000	0.35603	0.655000	0.94253	TGG		0.468	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		G	27582616	C	G	27582616	2	3	81	1	0	0	0	0	0	0	0	1	7101	581	21	4		4	HIBADH	7	27582616	Silent	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	26104117	27582616	131556047	38	5440											
HECW1	23072	hgsc.bcm.edu	37	7	43508701	43508701	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:43508701delA	ENST00000395891.2	+	16	3701	c.3096delA	c.(3094-3096)ggafs	p.G1032fs	HECW1_ENST00000453890.1_Frame_Shift_Del_p.G998fs	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1032	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCAGCAGGGAAAGGTGAGTG	0.577																																																0													61	61	61					7																	43508701		1982	4167	6149	SO:0001589	frameshift_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3096delA	chr7.hg19:g.43508701delA	ENSP00000379228:p.Gly1032fs		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Frame_Shift_Del	DEL	ENST00000395891.2	hg19	CCDS5469.2																																																																																				0.577	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		-	43508701	A	-	43508701	7	5	81	1	0	1	0	1	0	0	0	0	7044	233	9	0	3150	0	HECW1	7	43508701	Frame_Shift_Del	DEL	A	TCGA-A4-A48D-01A-11D-A25F-10	15926085	43508701	115629962	39	5441											
CYP3A43	64816	hgsc.bcm.edu	37	7	99434139	99434139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:99434139delT	ENST00000354829.2	+	2	238	c.135delT	c.(133-135)cctfs	p.P45fs	CYP3A43_ENST00000222382.5_Frame_Shift_Del_p.P45fs|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000417625.1_Frame_Shift_Del_p.P45fs|CYP3A43_ENST00000421837.2_Frame_Shift_Del_p.P45fs|CYP3A43_ENST00000415413.1_Frame_Shift_Del_p.P45fs|CYP3A43_ENST00000312017.5_Frame_Shift_Del_p.P45fs|CYP3A43_ENST00000444905.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	45			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CCCCTCTGCCTTTTCTGGGAA	0.393																																																0													95	93	94					7																	99434139		2203	4300	6503	SO:0001589	frameshift_variant	64816			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.135delT	chr7.hg19:g.99434139delT	ENSP00000346887:p.Pro45fs		Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Frame_Shift_Del	DEL	ENST00000354829.2	hg19	CCDS5676.1																																																																																				0.393	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			-	99434139	T	-	99434139	7	5	81	1	0	1	0	1	0	0	0	0	4181	1596	56	0	141	0	CYP3A43	7	99434139	Frame_Shift_Del	DEL	T	TCGA-A4-A48D-01A-11D-A25F-10	55925438	99434139	59704524	40	5442											
PPP1R3A	5506	hgsc.bcm.edu	37	7	113519562	113519562	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr7:113519562T>C	ENST00000284601.3	-	4	1653	c.1585A>G	c.(1585-1587)Aaa>Gaa	p.K529E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	529					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTTTGTTTTTCATTAACA	0.343																																																0													77	71	73					7																	113519562		2203	4300	6503	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1585A>G	chr7.hg19:g.113519562T>C	ENSP00000284601:p.Lys529Glu		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	hg19	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.404017	0.25291	.	.	ENSG00000154415	ENST00000284601	T	0.17054	2.3	6.02	4.81	0.61882	.	0.792728	0.11805	N	0.527776	T	0.14830	0.0358	M	0.63428	1.95	0.09310	N	1	P	0.44734	0.842	B	0.31442	0.13	T	0.30179	-0.9987	10	0.52906	T	0.07	-0.2155	6.933	0.24451	0.1335:0.0719:0.0:0.7946	.	529	Q16821	PPR3A_HUMAN	E	529	ENSP00000284601:K529E	ENSP00000284601:K529E	K	-	1	0	PPP1R3A	113306798	0.941000	0.31946	0.713000	0.30519	0.230000	0.25150	1.271000	0.33098	2.311000	0.77944	0.533000	0.62120	AAA		0.343	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		C	113519562	T	C	113519562	3	2	81	1	0	0	0	0	1	0	0	0	12376	1850	64	3	1787	3	PPP1R3A	7	113519562	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10	14085423	113519562	45619101	41	5443											
DEFB136	613210	hgsc.bcm.edu	37	8	11831570	11831570	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:11831570G>A	ENST00000382209.2	-	2	112	c.113C>T	c.(112-114)gCc>gTc	p.A38V		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	38					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GAAACATACGGCTTTCTGGCT	0.453																																																0													162	168	166					8																	11831570		2014	4183	6197	SO:0001583	missense	613210			DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884		"Defensins, beta"	34433	protein-coding gene	gene with protein product						16033865	Standard	NM_001033018		Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.113C>T	chr8.hg19:g.11831570G>A	ENSP00000371644:p.Ala38Val		Q4QY36	Missense_Mutation	SNP	ENST00000382209.2	hg19	CCDS43709.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863779	0.51482	.	.	ENSG00000205884	ENST00000382209	T	0.18960	2.18	4.06	3.18	0.36537	.	0.135690	0.34435	N	0.003978	T	0.17066	0.0410	.	.	.	0.09310	N	1	P	0.35982	0.531	B	0.35353	0.201	T	0.14282	-1.0478	9	0.66056	D	0.02	-1.9327	9.761	0.40532	0.0:0.7758:0.2242:0.0	.	38	Q30KP8	DB136_HUMAN	V	38	ENSP00000371644:A38V	ENSP00000371644:A38V	A	-	2	0	DEFB136	11868979	0.022000	0.18835	0.045000	0.18777	0.001000	0.01503	1.228000	0.32588	1.290000	0.44636	-0.321000	0.08615	GCC		0.453	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351889.1	NM_001033018		A	11831570	G	A	11831570	3	1	81	1	0	0	0	0	1	0	0	0	4422	1203	42	2	125	2	DEFB136	8	11831570	Missense_Mutation	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10		11831570	134532452	42	5444											
SCARA3	51435	hgsc.bcm.edu	37	8	27516084	27516084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:27516084C>T	ENST00000301904.3	+	5	417	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	SCARA3_ENST00000337221.4_Nonsense_Mutation_p.Q133*	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	133					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCGAAAACTGCAGGAGGAGCT	0.562																																																0													96	103	101					8																	27516084		2203	4300	6503	SO:0001587	stop_gained	51435			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"macrophage scavenger receptor-like 1"	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.397C>T	chr8.hg19:g.27516084C>T	ENSP00000301904:p.Gln133*		Q9UM15|Q9UM16	Nonsense_Mutation	SNP	ENST00000301904.3	hg19	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	C	38	7.138755	0.98088	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	.	.	.	6.04	6.04	0.98038	.	0.106561	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-19.8686	18.073	0.89417	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	ENSP00000301904:Q133X	Q	+	1	0	SCARA3	27572003	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.363000	0.66104	2.873000	0.98535	0.561000	0.74099	CAG		0.562	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		T	27516084	C	T	27516084	4	4	81	1	0	0	0	0	0	1	0	0	13885	711	25	2	415	2	SCARA3	8	27516084	Nonsense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	15684514	27516084	118847938	43	5445											
RAB11FIP1	80223	hgsc.bcm.edu	37	8	37730035	37730036	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:37730035_37730036insT	ENST00000330843.4	-	4	2296_2297	c.2284_2285insA	c.(2284-2286)agcfs	p.S762fs	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	762					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCTGGCTTTGCTCTCCACAAGA	0.569																																																0																																										SO:0001589	frameshift_variant	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2285dupA	chr8.hg19:g.37730036_37730036dupT	ENSP00000331342:p.Ser762fs		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Ins	INS	ENST00000330843.4	hg19	CCDS34882.1																																																																																				0.569	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		T	37730036	-	T	37730035	7	5	81	1	0	1	1	0	0	0	0	0	12899	797	28	0	1578	0	RAB11FIP1	8	37730035	Frame_Shift_Ins	INS	-	TCGA-A4-A48D-01A-11D-A25F-10	10213951	37730035	108633987	44	5446											
HNF4G	3174	hgsc.bcm.edu	37	8	76463728	76463728	+	Splice_Site	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:76463728A>G	ENST00000354370.1	+	5	617	c.347A>G	c.(346-348)cAg>cGg	p.Q116R	HNF4G_ENST00000396423.2_Splice_Site_p.Q153R			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	116					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CGGTCTCGCCAGGTACCTGTG	0.423																																																0													114	86	96					8																	76463728		2203	4300	6503	SO:0001630	splice_region_variant	3174				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.348+1A>G	chr8.hg19:g.76463728A>G			Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	hg19		.	.	.	.	.	.	.	.	.	.	A	19.16	3.774742	0.70107	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.94687	-3.49;-3.49	5.07	5.07	0.68467	Nuclear hormone receptor, ligand-binding (2);	0.485181	0.25587	N	0.029651	D	0.94853	0.8337	M	0.79258	2.445	0.80722	D	1	B;B	0.29571	0.249;0.249	B;B	0.38106	0.191;0.265	D	0.93931	0.7214	10	0.41790	T	0.15	.	15.1246	0.72472	1.0:0.0:0.0:0.0	.	153;116	F1D8Q4;Q14541	.;HNF4G_HUMAN	R	116;153	ENSP00000346339:Q116R;ENSP00000379701:Q153R	ENSP00000346339:Q116R	Q	+	2	0	HNF4G	76626283	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.152000	0.94680	2.026000	0.59711	0.528000	0.53228	CAG		0.423	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133	Missense_Mutation	G	76463728	A	G	76463728	5	3	81	1	0	0	0	0	0	0	1	0	7256	202	7	3	472	3	HNF4G	8	76463728	Splice_Site	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10	38733693	76463728	69900294	45	5447											
CA1	759	hgsc.bcm.edu	37	8	86250502	86250502	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:86250502C>T	ENST00000523953.1	-	4	1260	c.214G>A	c.(214-216)Gag>Aag	p.E72K	CA1_ENST00000256119.5_Missense_Mutation_p.E72K|CA1_ENST00000523022.1_Missense_Mutation_p.E72K|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Missense_Mutation_p.E72K|CA1_ENST00000542576.1_Missense_Mutation_p.E72K|CA1_ENST00000522389.1_Intron|CA1_ENST00000431316.1_Missense_Mutation_p.E72K			P00915	CAH1_HUMAN	carbonic anhydrase I	72					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCGTTGTCCTCAAAATTTACA	0.388																																																0													222	221	222					8																	86250502		2203	4300	6503	SO:0001583	missense	759			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"Carbonic anhydrases"	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.214G>A	chr8.hg19:g.86250502C>T	ENSP00000430656:p.Glu72Lys			Missense_Mutation	SNP	ENST00000523953.1	hg19	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641247	0.47153	.	.	ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000517618;ENST00000517590;ENST00000521846;ENST00000522579;ENST00000522814;ENST00000522662;ENST00000523858	T;T;T;T;T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.53	3.74	0.42951	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.620194	0.17999	N	0.154974	T	0.60011	0.2236	L	0.42632	1.34	0.37858	D	0.929602	P	0.45715	0.865	B	0.42692	0.395	T	0.63323	-0.6663	10	0.59425	D	0.04	-2.5698	10.6538	0.45663	0.0:0.8437:0.0:0.1563	.	72	P00915	CAH1_HUMAN	K	72	ENSP00000430656:E72K;ENSP00000256119:E72K;ENSP00000392338:E72K;ENSP00000443517:E72K;ENSP00000401551:E72K;ENSP00000429798:E72K;ENSP00000430861:E72K;ENSP00000429843:E72K;ENSP00000430471:E72K;ENSP00000427852:E72K;ENSP00000430737:E72K;ENSP00000430372:E72K;ENSP00000430975:E72K	ENSP00000256119:E72K	E	-	1	0	CA1	86437754	0.998000	0.40836	0.108000	0.21378	0.434000	0.31775	2.575000	0.46025	0.706000	0.31912	0.591000	0.81541	GAG		0.388	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		T	86250502	C	T	86250502	3	4	81	1	0	0	0	0	1	0	0	0	2512	835	29	2	595	2	CA1	8	86250502	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	9786774	86250502	60113520	46	5448											
DECR1	1666	hgsc.bcm.edu	37	8	91029497	91029498	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:91029497_91029498insA	ENST00000220764.2	+	2	303_304	c.215_216insA	c.(214-219)ggtaaafs	p.K73fs	DECR1_ENST00000522161.1_Frame_Shift_Ins_p.K64fs|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	73					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			ACTGGCCTTGGTAAAGGAATGA	0.45																																																0																																										SO:0001589	frameshift_variant	1666			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	Exception_encountered	chr8.hg19:g.91029497_91029498insA	ENSP00000220764:p.Lys73fs		B7Z6B8|Q2M304|Q93085	Frame_Shift_Ins	INS	ENST00000220764.2	hg19	CCDS6250.1																																																																																				0.45	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			A	91029498	-	A	91029497	7	5	81	1	0	1	1	0	0	0	0	0	4384	1261	44	0	221	0	DECR1	8	91029497	Frame_Shift_Ins	INS	-	TCGA-A4-A48D-01A-11D-A25F-10	4778995	91029497	55334525	47	5449											
RGS22	26166	hgsc.bcm.edu	37	8	101076121	101076121	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:101076121C>G	ENST00000360863.6	-	8	1069	c.875G>C	c.(874-876)aGa>aCa	p.R292T	RGS22_ENST00000523287.1_Missense_Mutation_p.R111T|RGS22_ENST00000523437.1_Missense_Mutation_p.R280T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	292					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAGGTATACTCTCAGAAGAGC	0.343																																																0													79	79	79					8																	101076121		1823	4073	5896	SO:0001583	missense	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.875G>C	chr8.hg19:g.101076121C>G	ENSP00000354109:p.Arg292Thr		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	hg19	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240381	0.58995	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.32988	1.44;1.43;1.44	5.86	4.98	0.66077	.	0.202669	0.37809	N	0.001934	T	0.25531	0.0621	M	0.64997	1.995	0.25094	N	0.990833	P;P;P	0.38597	0.506;0.506;0.639	B;B;B	0.30029	0.051;0.051;0.11	T	0.41215	-0.9521	10	0.66056	D	0.02	.	7.6392	0.28284	0.1248:0.6867:0.1208:0.0677	.	280;292;111	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	T	292;280;111;280	ENSP00000354109:R292T;ENSP00000429382:R111T;ENSP00000428212:R280T	ENSP00000354109:R292T	R	-	2	0	RGS22	101145297	0.590000	0.26815	0.978000	0.43139	0.698000	0.40448	1.435000	0.34969	2.937000	0.99478	0.650000	0.86243	AGA		0.343	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		G	101076121	C	G	101076121	3	3	81	1	0	0	0	0	1	0	0	0	13311	913	32	4	2999	4	RGS22	8	101076121	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	10046624	101076121	45287901	48	5450											
ZNF572	137209	hgsc.bcm.edu	37	8	125988719	125988719	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:125988719A>C	ENST00000319286.5	+	3	363	c.209A>C	c.(208-210)gAa>gCa	p.E70A		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	70					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GATGCAAAAGAAATGCCACTG	0.378										HNSCC(60;0.17)																																						0													91	89	90					8																	125988719		2203	4300	6503	SO:0001583	missense	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.209A>C	chr8.hg19:g.125988719A>C	ENSP00000319305:p.Glu70Ala		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	hg19	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	A	9.984	1.229005	0.22542	.	.	ENSG00000180938	ENST00000319286	T	0.08634	3.07	4.06	2.92	0.33932	.	0.160607	0.29293	N	0.012574	T	0.05273	0.0140	N	0.24115	0.695	0.09310	N	0.999998	B	0.27823	0.19	B	0.27608	0.081	T	0.36456	-0.9747	10	0.27082	T	0.32	-9.0575	7.4137	0.27032	0.8925:0.0:0.1075:0.0	.	70	Q7Z3I7	ZN572_HUMAN	A	70	ENSP00000319305:E70A	ENSP00000319305:E70A	E	+	2	0	ZNF572	126057900	0.024000	0.19004	0.541000	0.28102	0.914000	0.54420	0.846000	0.27682	1.841000	0.53522	0.459000	0.35465	GAA		0.378	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		C	125988719	A	C	125988719	3	2	81	1	0	0	0	0	1	0	0	0	18009	246	9	5	215	5	ZNF572	8	125988719	Missense_Mutation	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10	24912598	125988719	20375303	49	5451											
KCNK9	51305	hgsc.bcm.edu	37	8	140631226	140631231	+	In_Frame_Del	DEL	TGTTCA	TGTTCA	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	TGTTCA	TGTTCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:140631226_140631231delTGTTCA	ENST00000520439.1	-	2	458_463	c.395_400delTGAACA	c.(394-402)atgaacacc>acc	p.MN132del	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_In_Frame_Del_p.MN132del	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	132					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGCACGAAGGTGTTCATGCGCTCGCC	0.587																																																0																																										SO:0001651	inframe_deletion	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.395_400delTGAACA	chr8.hg19:g.140631226_140631231delTGTTCA	ENSP00000430676:p.Met132_Asn133del		Q2M290|Q540F2	In_Frame_Del	DEL	ENST00000520439.1	hg19	CCDS6377.1																																																																																				0.587	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		-	140631231	TGTTCA	-	140631226	7	5	81	1	0	1	0	1	0	0	0	0	8074	1696	59	0	728	0	KCNK9	8	140631226	In_Frame_Del	DEL	TGTTCA	TCGA-A4-A48D-01A-11D-A25F-10	14642507	140631226	5732796	50	5452											
ZNF251	90987	hgsc.bcm.edu	37	8	145947050	145947050	+	Silent	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr8:145947050A>T	ENST00000292562.7	-	5	2270	c.1995T>A	c.(1993-1995)atT>atA	p.I665I	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TTTCTTGGAAAATCTTCTTGA	0.358																																																0													44	44	44					8																	145947050		1901	4119	6020	SO:0001819	synonymous_variant	90987			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1995T>A	chr8.hg19:g.145947050A>T			Q2M219	Silent	SNP	ENST00000292562.7	hg19	CCDS47944.1																																																																																				0.358	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		T	145947050	A	T	145947050	2	4	81	1	0	0	0	0	0	0	0	1	17801	10	1	5		5	ZNF251	8	145947050	Silent	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10	5315824	145947050	416972	51	5453											
BAAT	570	hgsc.bcm.edu	37	9	104125253	104125253	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr9:104125253T>C	ENST00000395051.3	-	3	784	c.714A>G	c.(712-714)gtA>gtG	p.V238V	BAAT_ENST00000259407.2_Silent_p.V238V			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	238					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GTCCAATCTGTACTCCTTGAC	0.393																																																0													90	91	91					9																	104125253		2202	4300	6502	SO:0001819	synonymous_variant	570			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.714A>G	chr9.hg19:g.104125253T>C			Q3B7W9|Q96L31	Silent	SNP	ENST00000395051.3	hg19	CCDS6752.1																																																																																				0.393	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			C	104125253	T	C	104125253	2	2	81	1	0	0	0	0	0	0	0	1	1280	1625	57	3		3	BAAT	9	104125253	Silent	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10		104125253	37088178	52	5454											
GPR107	57720	hgsc.bcm.edu	37	9	132845879	132845879	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr9:132845879A>G	ENST00000372406.1	+	6	1069	c.562A>G	c.(562-564)Aag>Gag	p.K188E	GPR107_ENST00000347136.6_Missense_Mutation_p.K188E|GPR107_ENST00000372410.3_Missense_Mutation_p.K188E	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	188						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AGTGGATTCAAAGGTAAGAAC	0.348																																																0													196	174	181					9																	132845879		2203	4300	6503	SO:0001583	missense	57720			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.562A>G	chr9.hg19:g.132845879A>G	ENSP00000361483:p.Lys188Glu		A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	hg19	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.828233	0.50845	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.22336	1.96;1.97;1.96	5.63	4.42	0.53409	.	0.148254	0.46758	D	0.000276	T	0.14874	0.0359	L	0.42245	1.32	0.32954	D	0.520166	P;P;P	0.40083	0.702;0.696;0.57	B;B;B	0.37650	0.255;0.214;0.255	T	0.05533	-1.0879	10	0.08837	T	0.75	-12.6956	9.084	0.36570	0.8151:0.1849:0.0:0.0	.	188;188;188	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	E	188	ENSP00000361483:K188E;ENSP00000336988:K188E;ENSP00000361487:K188E	ENSP00000336988:K188E	K	+	1	0	GPR107	131885700	0.952000	0.32445	1.000000	0.80357	0.980000	0.70556	0.795000	0.26972	2.145000	0.66743	0.533000	0.62120	AAG		0.348	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			G	132845879	A	G	132845879	3	3	81	1	0	0	0	0	1	0	0	0	6625	15	1	3	584	3	GPR107	9	132845879	Missense_Mutation	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10	28720626	132845879	8367552	53	5455											
NUDT13	25961	hgsc.bcm.edu	37	10	74884990	74884990	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:74884990T>G	ENST00000357321.4	+	6	698	c.580T>G	c.(580-582)Tat>Gat	p.Y194D	NUDT13_ENST00000544879.1_Missense_Mutation_p.Y68D|NUDT13_ENST00000537969.1_5'UTR|RP11-152N13.16_ENST00000608444.1_RNA|SNORA11_ENST00000408237.1_RNA|NUDT13_ENST00000372997.3_Missense_Mutation_p.Y194D|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Missense_Mutation_p.Y194D	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TAATATAATCTATTATCCACA	0.478																																																0													68	70	69					10																	74884990		2203	4300	6503	SO:0001583	missense	25961			AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"Nudix motif containing"	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.580T>G	chr10.hg19:g.74884990T>G	ENSP00000349874:p.Tyr194Asp			Missense_Mutation	SNP	ENST00000357321.4	hg19	CCDS31220.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580430	0.86645	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000544879;ENST00000372997	T;T;T;T	0.44083	0.93;1.36;0.93;1.43	5.97	5.97	0.96955	NUDIX hydrolase domain (1);Zinc ribbon, NADH pyrophosphatase (1);NUDIX hydrolase domain-like (1);	0.108901	0.64402	D	0.000004	T	0.57902	0.2085	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.979	D;D;P	0.79108	0.992;0.984;0.821	T	0.57556	-0.7791	10	0.52906	T	0.07	.	16.43	0.83839	0.0:0.0:0.0:1.0	.	194;194;194	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	D	194;194;68;194	ENSP00000349874:Y194D;ENSP00000335326:Y194D;ENSP00000440760:Y68D;ENSP00000362088:Y194D	ENSP00000335326:Y194D	Y	+	1	0	NUDT13	74554996	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.758000	0.68776	2.283000	0.76528	0.533000	0.62120	TAT		0.478	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901		G	74884990	T	G	74884990	3	3	81	1	0	0	0	0	1	0	0	0	10731	1522	53	5	598	5	NUDT13	10	74884990	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10		74884990	60649757	54	5456											
MAT1A	4143	hgsc.bcm.edu	37	10	82039973	82039973	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:82039973G>T	ENST00000372213.3	-	5	765	c.505C>A	c.(505-507)Cgc>Agc	p.R169S		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	169					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGCCGGAGCGCCTGAGGTCT	0.582																																																0													71	79	76					10																	82039973		2203	4300	6503	SO:0001583	missense	4143				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.505C>A	chr10.hg19:g.82039973G>T	ENSP00000361287:p.Arg169Ser		D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	hg19	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441355	0.43326	.	.	ENSG00000151224	ENST00000372213;ENST00000372206;ENST00000455001	D;D	0.82619	-1.63;-1.63	4.91	4.01	0.46588	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.097389	0.64402	N	0.000001	D	0.91835	0.7416	M	0.93854	3.465	0.80722	D	1	D	0.60160	0.987	D	0.62955	0.909	D	0.93004	0.6426	10	0.87932	D	0	-22.5394	11.6157	0.51088	0.0885:0.0:0.9115:0.0	.	169	Q00266	METK1_HUMAN	S	169;169;106	ENSP00000361287:R169S;ENSP00000414961:R106S	ENSP00000361280:R169S	R	-	1	0	MAT1A	82029953	1.000000	0.71417	0.858000	0.33744	0.028000	0.11728	6.335000	0.72949	1.217000	0.43442	-0.123000	0.14984	CGC		0.582	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		T	82039973	G	T	82039973	3	4	81	1	0	0	0	0	1	0	0	0	9331	1087	38	4	702	4	MAT1A	10	82039973	Missense_Mutation	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	7154983	82039973	53494774	55	5457											
NRG3	10718	hgsc.bcm.edu	37	10	83635455	83635455	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:83635455C>G	ENST00000404547.1	+	1	359	c.359C>G	c.(358-360)tCt>tGt	p.S120C	NRG3_ENST00000372141.2_Missense_Mutation_p.S120C|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	120	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAGCCCAGCTCTTTCCCCAAG	0.662																																																0													71	78	75					10																	83635455		2203	4300	6503	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.359C>G	chr10.hg19:g.83635455C>G	ENSP00000384796:p.Ser120Cys		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	hg19	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	c	19.30	3.801788	0.70682	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.35973	1.28;1.29	2.97	2.97	0.34412	.	.	.	.	.	T	0.41119	0.1145	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66847	0.947;0.947	T	0.42361	-0.9456	9	0.72032	D	0.01	-10.7268	11.8419	0.52359	0.0:1.0:0.0:0.0	.	120;120	B9EGV5;P56975-4	.;.	C	120	ENSP00000361214:S120C;ENSP00000384796:S120C	ENSP00000361214:S120C	S	+	2	0	NRG3	83625435	0.970000	0.33590	1.000000	0.80357	0.995000	0.86356	2.334000	0.43920	1.680000	0.50976	0.459000	0.35465	TCT		0.662	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		G	83635455	C	G	83635455	3	3	81	1	0	0	0	0	1	0	0	0	10651	913	32	4	361	4	NRG3	10	83635455	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	1595482	83635455	51899292	56	5458											
BMPR1A	657	hgsc.bcm.edu	37	10	88681453	88681453	+	Splice_Site	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr10:88681453G>A	ENST00000372037.3	+	11	1879		c.e11+1			NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA						BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						ATCACAGGAGGTGGGAGTTTG	0.388			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	yes	Rec		Juvenile polyposis	10	10q22.3	657	"bone morphogenetic protein receptor, type IA"		E	0													112	108	110					10																	88681453		2203	4300	6503	SO:0001630	splice_region_variant	657	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.1342+1G>A	chr10.hg19:g.88681453G>A			A8K6U9|Q8NEN8	Splice_Site	SNP	ENST00000372037.3	hg19	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039456	0.75617	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	.	.	.	5.63	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3472	0.83146	0.0:0.0:0.867:0.133	.	.	.	.	.	-1	.	.	.	+	.	.	BMPR1A	88671433	1.000000	0.71417	0.989000	0.46669	0.789000	0.44602	9.738000	0.98835	1.511000	0.48818	0.655000	0.94253	.		0.388	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329	Intron	A	88681453	G	A	88681453	5	1	81	1	0	0	0	0	0	0	1	0	1469	1275	44	2	1377	2	BMPR1A	10	88681453	Splice_Site	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	5045998	88681453	46853294	57	5459											
CDHR5	53841	hgsc.bcm.edu	37	11	621148	621148	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:621148T>C	ENST00000358353.3	-	8	1043	c.721A>G	c.(721-723)Acc>Gcc	p.T241A	CDHR5_ENST00000349570.7_Missense_Mutation_p.T241A|CDHR5_ENST00000397542.2_Missense_Mutation_p.T241A			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	241					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TCTGAGAAGGTGCAGGGCAGG	0.652																																																0													68	64	66					11																	621148		2203	4300	6503	SO:0001583	missense	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.721A>G	chr11.hg19:g.621148T>C	ENSP00000351118:p.Thr241Ala		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	hg19	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	T	3.798	-0.042254	0.07452	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570	T;T;T	0.45668	0.89;0.89;0.89	4.08	-8.15	0.01065	.	2.323100	0.02445	N	0.084999	T	0.12092	0.0294	N	0.02357	-0.585	0.09310	N	1	B;B;B;B;B	0.13594	0.0;0.005;0.002;0.002;0.008	B;B;B;B;B	0.09377	0.003;0.004;0.004;0.004;0.004	T	0.22977	-1.0201	10	0.10377	T	0.69	-2.285	0.0745	0.00025	0.3221:0.1617:0.2125:0.3037	.	241;241;234;241;241	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8	.;.;.;.;CDHR5_HUMAN	A	241	ENSP00000380676:T241A;ENSP00000351118:T241A;ENSP00000345726:T241A	ENSP00000326527:T241A	T	-	1	0	CDHR5	611148	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-1.800000	0.01744	-2.416000	0.00567	-0.496000	0.04628	ACC		0.652	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		C	621148	T	C	621148	3	2	81	1	0	0	0	0	1	0	0	0	3124	1696	59	3	1852	3	CDHR5	11	621148	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10		621148	134385368	58	5460											
MUC2	4583	hgsc.bcm.edu	37	11	1093271	1093271	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:1093271C>G	ENST00000441003.2	+	30	5117	c.5090C>G	c.(5089-5091)aCa>aGa	p.T1697R	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.T1664R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1697R(2)|p.T1664R(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cagaccccaacatcgacaccc	0.637																																																4	Substitution - Missense(4)	kidney(2)|skin(2)											126	165	151					11																	1093271		1844	3338	5182	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5090C>G	chr11.hg19:g.1093271C>G	ENSP00000415183:p.Thr1697Arg		Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	C	5.778	0.327961	0.10956	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.93;2.58	1.43	1.43	0.22495	.	27.718000	0.04275	U	0.342784	T	0.27027	0.0662	.	.	.	0.20307	N	0.999915	D	0.64830	0.994	D	0.67725	0.953	T	0.19647	-1.0299	9	0.30078	T	0.28	.	6.2291	0.20724	0.0:1.0:0.0:0.0	.	1697	E7EUV1	.	R	1697;1664	ENSP00000415183:T1697R;ENSP00000351956:T1664R	ENSP00000351956:T1664R	T	+	2	0	MUC2	1083271	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.752000	0.26362	0.796000	0.33947	0.184000	0.17185	ACA		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1093271	C	G	1093271	3	3	81	1	0	0	0	0	1	0	0	0	9977	478	17	4	5208	4	MUC2	11	1093271	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	472123	1093271	133913245	59	5461											
OR52D1	390066	hgsc.bcm.edu	37	11	5510196	5510196	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:5510196T>C	ENST00000322641.5	+	1	282	c.260T>C	c.(259-261)aTt>aCt	p.I87T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	87					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)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGGCCATTTTGTGGCTC	0.498																																																0													164	135	144					11																	5510196		2201	4297	6498	SO:0001583	missense	390066			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.260T>C	chr11.hg19:g.5510196T>C	ENSP00000326232:p.Ile87Thr		B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	hg19	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650929	0.67472	.	.	ENSG00000181609	ENST00000322641	T	0.00384	7.6	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.088930	0.48767	D	0.000161	T	0.00936	0.0031	M	0.73372	2.23	0.41835	D	0.990092	D	0.89917	1.0	D	0.85130	0.997	T	0.73582	-0.3937	10	0.87932	D	0	.	14.7065	0.69194	0.0:0.0:0.0:1.0	.	87	Q9H346	O52D1_HUMAN	T	87	ENSP00000326232:I87T	ENSP00000326232:I87T	I	+	2	0	OR52D1	5466772	0.008000	0.16893	1.000000	0.80357	0.593000	0.36681	1.557000	0.36299	2.340000	0.79590	0.528000	0.53228	ATT		0.498	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		C	5510196	T	C	5510196	3	2	81	1	0	0	0	0	1	0	0	0	11116	1493	52	3	262	3	OR52D1	11	5510196	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10	4416925	5510196	129496320	60	5462											
EXPH5	23086	hgsc.bcm.edu	37	11	108381937	108381941	+	Frame_Shift_Del	DEL	CTTCT	CTTCT	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	CTTCT	CTTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:108381937_108381941delCTTCT	ENST00000265843.4	-	6	4403_4407	c.4293_4297delAGAAG	c.(4291-4299)tcagaagttfs	p.EV1432fs	EXPH5_ENST00000443411.1_Frame_Shift_Del_p.EV1244fs|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.EV1356fs|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.EV1425fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1432					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCAATATTAACTTCTGAAAGAGCTG	0.395																																																0																																										SO:0001589	frameshift_variant	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4293_4297delAGAAG	chr11.hg19:g.108381937_108381941delCTTCT	ENSP00000265843:p.Glu1432fs		Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL	ENST00000265843.4	hg19	CCDS8341.1																																																																																				0.395	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		-	108381941	CTTCT	-	108381937	7	5	81	1	0	1	0	1	0	0	0	0	5324	565	20	0	1676	0	EXPH5	11	108381937	Frame_Shift_Del	DEL	CTTCT	TCGA-A4-A48D-01A-11D-A25F-10	102871741	108381937	26624579	61	5463											
SIK3	23387	hgsc.bcm.edu	37	11	116741113	116741113	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr11:116741113A>G	ENST00000292055.4	-	14	1603	c.1568T>C	c.(1567-1569)gTg>gCg	p.V523A	SIK3_ENST00000446921.2_Missense_Mutation_p.V533A|SIK3_ENST00000434315.2_Missense_Mutation_p.V422A|SIK3_ENST00000375300.1_Missense_Mutation_p.V581A|SIK3_ENST00000488337.1_5'Flank|SIK3_ENST00000542607.1_Missense_Mutation_p.V475A|SIK3_ENST00000375288.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	523					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AACTGCTGGCACTGCCTGAAG	0.542											OREG0003489	type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													76	67	70					11																	116741113		2201	4296	6497	SO:0001583	missense	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1568T>C	chr11.hg19:g.116741113A>G	ENSP00000292055:p.Val523Ala	1475	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	hg19	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516700	0.64634	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	T;T;T;T	0.72615	-0.62;-0.65;-0.67;-0.23	5.79	4.66	0.58398	Protein kinase-like domain (1);	0.000000	0.36134	U	0.002766	T	0.66499	0.2795	L	0.29908	0.895	0.80722	D	1	D;P;P	0.53312	0.959;0.929;0.857	P;P;B	0.50192	0.634;0.48;0.396	T	0.68401	-0.5418	10	0.62326	D	0.03	.	11.844	0.52374	0.9311:0.0:0.0689:0.0	.	475;422;523	A1A5A8;A1A5A9;Q9Y2K2	.;.;SIK3_HUMAN	A	581;523;475;422	ENSP00000364449:V581A;ENSP00000292055:V523A;ENSP00000438108:V475A;ENSP00000415873:V422A	ENSP00000292055:V523A	V	-	2	0	SIK3	116246323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.658000	0.68003	1.011000	0.39340	0.482000	0.46254	GTG		0.542	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		G	116741113	A	G	116741113	3	3	81	1	0	0	0	0	1	0	0	0	14325	159	6	3	2263	3	SIK3	11	116741113	Missense_Mutation	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10	8359176	116741113	18265403	62	5464											
USP5	8078	hgsc.bcm.edu	37	12	6974373	6974374	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:6974373_6974374delTG	ENST00000229268.8	+	19	2496_2497	c.2444_2445delTG	c.(2443-2445)atgfs	p.M815fs	USP5_ENST00000389231.5_Frame_Shift_Del_p.M792fs|TPI1_ENST00000229270.4_5'Flank|TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_5'Flank|TPI1_ENST00000535434.1_5'Flank	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	815	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACCTCTACCATGTGTGGTCACT	0.5																																																0																																										SO:0001589	frameshift_variant	8078			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.2444_2445delTG	chr12.hg19:g.6974377_6974378delTG	ENSP00000229268:p.Met815fs		D3DUS7|D3DUS8|Q96J22	Frame_Shift_Del	DEL	ENST00000229268.8	hg19	CCDS41743.1																																																																																				0.5	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			-	6974374	TG	-	6974373	7	5	81	1	0	1	0	1	0	0	0	0	17086	1464	51	0	2518	0	USP5	12	6974373	Frame_Shift_Del	DEL	TG	TCGA-A4-A48D-01A-11D-A25F-10		6974373	126877522	63	5465											
LRRK2	120892	hgsc.bcm.edu	37	12	40713882	40713882	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:40713882A>T	ENST00000298910.7	+	34	4978	c.4920A>T	c.(4918-4920)aaA>aaT	p.K1640N		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1640					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAAAAGGAAATTTCCAAAGA	0.358											OREG0003827	type=REGULATORY REGION|Gene=LOC486608|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													52	62	59					12																	40713882		2199	4296	6495	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4920A>T	chr12.hg19:g.40713882A>T	ENSP00000298910:p.Lys1640Asn	895	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234808	0.39498	.	.	ENSG00000188906	ENST00000298910	T	0.71698	-0.59	5.55	4.4	0.53042	.	0.305891	0.37393	N	0.002104	T	0.52451	0.1735	L	0.27053	0.805	0.36820	D	0.886366	B;B	0.24823	0.112;0.005	B;B	0.15484	0.013;0.004	T	0.50233	-0.8852	10	0.17832	T	0.49	.	9.2446	0.37518	0.842:0.0:0.158:0.0	.	1640;1640	Q17RV3;Q5S007	.;LRRK2_HUMAN	N	1640	ENSP00000298910:K1640N	ENSP00000298910:K1640N	K	+	3	2	LRRK2	39000149	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.468000	0.53086	0.932000	0.37266	0.482000	0.46254	AAA		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		T	40713882	A	T	40713882	3	4	81	1	0	0	0	0	1	0	0	0	9035	98	4	5	5054	5	LRRK2	12	40713882	Missense_Mutation	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10	33739509	40713882	93138013	64	5466											
LRRK2	120892	hgsc.bcm.edu	37	12	40745358	40745358	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:40745358T>A	ENST00000298910.7	+	44	6457	c.6399T>A	c.(6397-6399)aaT>aaA	p.N2133K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACATTTTGAATTCAGCTGAAT	0.343																																																0													48	48	48					12																	40745358		2203	4300	6503	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6399T>A	chr12.hg19:g.40745358T>A	ENSP00000298910:p.Asn2133Lys		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514495	0.64522	.	.	ENSG00000188906	ENST00000298910	T	0.71817	-0.6	6.02	1.09	0.20402	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	N	0.21583	0.68	0.44492	D	0.997434	P;P	0.42692	0.476;0.787	B;B	0.40982	0.246;0.345	T	0.47947	-0.9077	10	0.41790	T	0.15	.	9.6792	0.40059	0.0:0.4062:0.0:0.5938	.	2133;2133	Q17RV3;Q5S007	.;LRRK2_HUMAN	K	2133	ENSP00000298910:N2133K	ENSP00000298910:N2133K	N	+	3	2	LRRK2	39031625	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.493000	0.22451	0.196000	0.20367	0.529000	0.55759	AAT		0.343	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40745358	T	A	40745358	3	1	81	1	0	0	0	0	1	0	0	0	9035	1490	52	5	6573	5	LRRK2	12	40745358	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10	31476	40745358	93106537	65	5467											
KRT79	338785	hgsc.bcm.edu	37	12	53225246	53225246	+	Silent	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:53225246C>A	ENST00000330553.5	-	2	676	c.642G>T	c.(640-642)ggG>ggT	p.G214G		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	214	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTCCAGCCTCCCCCGCTCGC	0.617																																																0													114	114	114					12																	53225246		2203	4300	6503	SO:0001819	synonymous_variant	338785			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.642G>T	chr12.hg19:g.53225246C>A			Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	hg19	CCDS8839.1																																																																																				0.617	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		A	53225246	C	A	53225246	2	1	81	1	0	0	0	0	0	0	0	1	8494	842	30	4		4	KRT79	12	53225246	Silent	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	12479888	53225246	80626649	66	5468											
TIMELESS	8914	hgsc.bcm.edu	37	12	56827702	56827703	+	Frame_Shift_Ins	INS	-	-	CACG			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:56827702_56827703insCACG	ENST00000553532.1	-	3	255_256	c.105_106insCGTG	c.(103-108)gtgaagfs	p.K36fs	TIMELESS_ENST00000554616.1_Frame_Shift_Ins_p.K36fs|TIMELESS_ENST00000229201.4_Frame_Shift_Ins_p.K36fs					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATCAGATCCTTCACGCTCTCTT	0.52																																																0																																										SO:0001589	frameshift_variant	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.102_105dupCGTG	chr12.hg19:g.56827703_56827706dupCACG	ENSP00000450607:p.Lys36fs			Frame_Shift_Ins	INS	ENST00000553532.1	hg19	CCDS8918.1																																																																																				0.52	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		CACG	56827703	-	CACG	56827702	7	5	81	1	0	1	1	0	0	0	0	0	15909	1792	62	0	3628	0	TIMELESS	12	56827702	Frame_Shift_Ins	INS	-	TCGA-A4-A48D-01A-11D-A25F-10	3602456	56827702	77024193	67	5469											
GPR182	11318	hgsc.bcm.edu	37	12	57389791	57389791	+	Silent	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:57389791C>G	ENST00000300098.1	+	2	1017	c.798C>G	c.(796-798)gtC>gtG	p.V266V	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	266					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						ACGTGGCCGTCTTTGTCATGT	0.617																																																0													168	145	153					12																	57389791		2203	4300	6503	SO:0001819	synonymous_variant	11318			Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"GPCR / Class A : Orphans"	13708	protein-coding gene	gene with protein product		605307	"adrenomedullin receptor"	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.798C>G	chr12.hg19:g.57389791C>G				Silent	SNP	ENST00000300098.1	hg19	CCDS8927.1																																																																																				0.617	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		G	57389791	C	G	57389791	2	3	81	1	0	0	0	0	0	0	0	1	6679	900	32	4		4	GPR182	12	57389791	Silent	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	562089	57389791	76462104	68	5470											
TMEM132B	114795	hgsc.bcm.edu	37	12	126138829	126138830	+	In_Frame_Ins	INS	-	-	CAA			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr12:126138829_126138830insCAA	ENST00000299308.3	+	9	2818_2819	c.2810_2811insCAA	c.(2809-2814)ggcaac>ggCAAcaac	p.938_939insN	TMEM132B_ENST00000535886.1_In_Frame_Ins_p.450_451insN	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	938						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGTGAGCAGGGCAACATCCCCC	0.51																																																0																																										SO:0001652	inframe_insertion	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2811_2813dupCAA	chr12.hg19:g.126138830_126138832dupCAA	ENSP00000299308:p.Asn938_Asn938dup		A2RRG8|Q8NA73|Q96JN9|Q96PY1	In_Frame_Ins	INS	ENST00000299308.3	hg19	CCDS41859.1																																																																																				0.51	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		CAA	126138830	-	CAA	126138829	7	5	81	1	0	1	1	0	0	0	0	0	16051	1203	42	0	2844	0	TMEM132B	12	126138829	In_Frame_Ins	INS	-	TCGA-A4-A48D-01A-11D-A25F-10	68749038	126138829	7713066	69	5471											
IFT88	8100	hgsc.bcm.edu	37	13	21163994	21163994	+	Silent	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr13:21163994T>C	ENST00000319980.6	+	6	552	c.225T>C	c.(223-225)gcT>gcC	p.A75A	IFT88_ENST00000537103.1_Intron|IFT88_ENST00000351808.5_Silent_p.A66A|IFT88_ENST00000382778.4_Silent_p.A75A	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	75					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GACCTATAGCTACTGGATATG	0.328																																																0													81	82	82					13																	21163994		2203	4299	6502	SO:0001819	synonymous_variant	8100			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.225T>C	chr13.hg19:g.21163994T>C			A2A491|B4DUS2|Q5SZJ6|Q8N719	Silent	SNP	ENST00000319980.6	hg19	CCDS31944.1																																																																																				0.328	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		C	21163994	T	C	21163994	2	2	81	1	0	0	0	0	0	0	0	1	7568	1509	53	3		3	IFT88	13	21163994	Silent	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10		21163994	94005884	70	5472											
USP12	219333	hgsc.bcm.edu	37	13	27664060	27664060	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr13:27664060A>T	ENST00000282344.6	-	6	950	c.694T>A	c.(694-696)Tac>Aac	p.Y232N		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	232	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TCTTCACAGTAATACTTGTAT	0.338																																					Ovarian(37;808 911 7590 44442 44991)											0													63	62	62					13																	27664060		2203	4300	6503	SO:0001583	missense	219333			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.694T>A	chr13.hg19:g.27664060A>T	ENSP00000282344:p.Tyr232Asn		A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	hg19	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459009	0.84317	.	.	ENSG00000152484	ENST00000282344	T	0.05649	3.41	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.16085	0.0387	L	0.42686	1.345	0.80722	D	1	D	0.57571	0.98	P	0.60541	0.876	T	0.00575	-1.1663	10	0.49607	T	0.09	-15.958	15.4004	0.74834	1.0:0.0:0.0:0.0	.	232	O75317	UBP12_HUMAN	N	232	ENSP00000282344:Y232N	ENSP00000282344:Y232N	Y	-	1	0	USP12	26562060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.803000	0.91915	2.113000	0.64589	0.482000	0.46254	TAC		0.338	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		T	27664060	A	T	27664060	3	4	81	1	0	0	0	0	1	0	0	0	17048	362	13	5	434	5	USP12	13	27664060	Missense_Mutation	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10	6500066	27664060	87505818	71	5473											
DIAPH3	81624	hgsc.bcm.edu	37	13	60686191	60686191	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr13:60686191T>C	ENST00000400324.4	-	3	563	c.343A>G	c.(343-345)Aag>Gag	p.K115E	DIAPH3_ENST00000400320.1_Missense_Mutation_p.K104E|DIAPH3_ENST00000377908.2_Missense_Mutation_p.K104E|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000267215.4_Missense_Mutation_p.K115E|DIAPH3_ENST00000400330.1_Missense_Mutation_p.K115E	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	115	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GACAGTGGCTTTGGAAAGTTC	0.403																																																0													162	151	154					13																	60686191		1840	4095	5935	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.343A>G	chr13.hg19:g.60686191T>C	ENSP00000383178:p.Lys115Glu		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	hg19	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	6.162	0.398114	0.11696	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-1.93;-2.52	5.82	5.82	0.92795	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.059630	0.64402	D	0.000004	D	0.82467	0.5043	N	0.25647	0.755	0.33949	D	0.644161	P;P;P	0.50819	0.704;0.485;0.939	B;B;P	0.45753	0.084;0.266;0.492	T	0.82212	-0.0569	10	0.02654	T	1	.	15.1658	0.72825	0.0:0.0:0.0:1.0	.	104;104;115	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	E	115;115;104;104;104;104;115;115	ENSP00000383178:K115E;ENSP00000383184:K115E;ENSP00000367141:K104E;ENSP00000383174:K104E;ENSP00000267215:K115E	ENSP00000267215:K115E	K	-	1	0	DIAPH3	59584192	1.000000	0.71417	0.998000	0.56505	0.220000	0.24768	4.210000	0.58500	2.228000	0.72767	0.533000	0.62120	AAG		0.403	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		C	60686191	T	C	60686191	3	2	81	1	0	0	0	0	1	0	0	0	4522	1850	64	3	3362	3	DIAPH3	13	60686191	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10	33022131	60686191	54483687	72	5474											
JUB	84962	hgsc.bcm.edu	37	14	23444254	23444254	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr14:23444254G>A	ENST00000262713.2	-	5	1674	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	AJUBA_ENST00000361265.4_Silent_p.N433N|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_Silent_p.N16N	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	433	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CCAGGCACTTGTTGCAAACAA	0.522																																																0													149	136	141					14																	23444254		2203	4300	6503	SO:0001819	synonymous_variant	84962			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1299C>T	chr14.hg19:g.23444254G>A			A8MX18|D3DS37	Silent	SNP	ENST00000262713.2	hg19	CCDS9581.1																																																																																				0.522	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			A	23444254	G	A	23444254	2	1	81	1	0	0	0	0	0	0	0	1	7970	1368	48	2		2	JUB	14	23444254	Silent	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10		23444254	83905286	73	5475											
C14orf102	55051	hgsc.bcm.edu	37	14	90769186	90769186	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr14:90769186C>T	ENST00000354366.3	-	6	1521	c.1289G>A	c.(1288-1290)aGt>aAt	p.S430N	NRDE2_ENST00000357904.3_Missense_Mutation_p.S199N	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	430																	CGAAAAGGTACTAAACTGGCT	0.423																																																0													69	72	71					14																	90769186		2203	4300	6503	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1289G>A	chr14.hg19:g.90769186C>T	ENSP00000346335:p.Ser430Asn		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	hg19	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364312	0.82463	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.35973	1.69;1.28	5.51	5.51	0.81932	Domain of unknown function DUF1740 (1);	0.041947	0.85682	D	0.000000	T	0.55986	0.1955	M	0.69185	2.1	0.53005	D	0.999965	D	0.61697	0.99	D	0.63381	0.914	T	0.52124	-0.8617	10	0.38643	T	0.18	-16.8351	16.4406	0.83900	0.0:0.8691:0.1309:0.0	.	430	Q9H7Z3	CN102_HUMAN	N	430;199	ENSP00000346335:S430N;ENSP00000350579:S199N	ENSP00000346335:S430N	S	-	2	0	C14orf102	89838939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.785000	0.68998	2.586000	0.87340	0.650000	0.86243	AGT		0.423	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		T	90769186	C	T	90769186	3	4	81	1	0	0	0	0	1	0	0	0	1737	565	20	2	2241	2	C14orf102	14	90769186	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	67324932	90769186	16580354	74	5476											
THBS1	7057	hgsc.bcm.edu	37	15	39886356	39886356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr15:39886356C>A	ENST00000260356.5	+	20	3489	c.3324C>A	c.(3322-3324)taC>taA	p.Y1108*	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1108	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCACCGCCTACAGATGGCGTC	0.478																																																0													63	61	62					15																	39886356		2200	4297	6497	SO:0001587	stop_gained	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3324C>A	chr15.hg19:g.39886356C>A	ENSP00000260356:p.Tyr1108*		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Nonsense_Mutation	SNP	ENST00000260356.5	hg19	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	44	10.984739	0.99499	.	.	ENSG00000137801	ENST00000260356	.	.	.	5.83	4.92	0.64577	.	0.000000	0.32852	N	0.005571	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.5548	14.6654	0.68904	0.0:0.9305:0.0:0.0695	.	.	.	.	X	1108	.	ENSP00000260356:Y1108X	Y	+	3	2	THBS1	37673648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.078000	0.57606	1.468000	0.48064	0.655000	0.94253	TAC		0.478	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		A	39886356	C	A	39886356	4	1	81	1	0	0	0	0	0	1	0	0	15858	489	17	4	3398	4	THBS1	15	39886356	Nonsense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10		39886356	62645036	75	5477											
MYO9A	4649	hgsc.bcm.edu	37	15	72190908	72190908	+	Silent	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr15:72190908A>G	ENST00000356056.5	-	25	4408	c.3936T>C	c.(3934-3936)ccT>ccC	p.P1312P	MYO9A_ENST00000564571.1_Silent_p.P1312P|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.P932P|MYO9A_ENST00000424560.1_Silent_p.P1312P|MYO9A_ENST00000444904.1_Silent_p.P1293P	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1312	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAAGGCCTTCAGGCACCAATT	0.453																																																0													113	113	113					15																	72190908		2199	4297	6496	SO:0001819	synonymous_variant	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3936T>C	chr15.hg19:g.72190908A>G			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	hg19	CCDS10239.1																																																																																				0.453	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		G	72190908	A	G	72190908	2	3	81	1	0	0	0	0	0	0	0	1	10086	175	7	3		3	MYO9A	15	72190908	Silent	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10	32304552	72190908	30340484	76	5478											
CLK3	1198	hgsc.bcm.edu	37	15	74912367	74912371	+	Frame_Shift_Del	DEL	ACCAG	ACCAG	-	rs373663118|rs371419854		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	ACCAG	ACCAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr15:74912367_74912371delACCAG	ENST00000395066.3	+	3	1075_1079	c.614_618delACCAG	c.(613-618)taccagfs	p.YQ205fs	CLK3_ENST00000348245.3_Frame_Shift_Del_p.YQ57fs|CLK3_ENST00000345005.4_Frame_Shift_Del_p.YQ57fs|CLK3_ENST00000352989.5_Frame_Shift_Del_p.YQ57fs	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	205	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CGCCTGCCCTACCAGAGGAGGTACC	0.58																																					Ovarian(133;694 1754 28950 29027 31859)											0																																										SO:0001589	frameshift_variant	1198			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.614_618delACCAG	chr15.hg19:g.74912367_74912371delACCAG	ENSP00000378505:p.Tyr205fs		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Frame_Shift_Del	DEL	ENST00000395066.3	hg19	CCDS45304.1																																																																																				0.58	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			-	74912371	ACCAG	-	74912367	7	5	81	1	0	1	0	1	0	0	0	0	3540	391	14	0	624	0	CLK3	15	74912367	Frame_Shift_Del	DEL	ACCAG	TCGA-A4-A48D-01A-11D-A25F-10	2721459	74912367	27619025	77	5479											
NUBP2	3483	hgsc.bcm.edu	37	16	1837701	1837701	+	IGR	SNP	G	G	T	rs533118487		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:1837701G>T	ENST00000215539.3	-	0	2116				NUBP2_ENST00000565134.1_Missense_Mutation_p.D120Y|NUBP2_ENST00000543305.1_5'UTR|NUBP2_ENST00000565987.1_Missense_Mutation_p.D60Y|NUBP2_ENST00000568706.1_5'UTR|NUBP2_ENST00000262302.9_Missense_Mutation_p.D120Y			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GTTTGTGTCCGACGTGGCCTG	0.662																																																0													80	83	82					16																	1837701		2199	4300	6499	SO:0001628	intergenic_variant	10101			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		chr16.hg19:g.1837701G>T			B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	hg19	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468399	0.84533	.	.	ENSG00000095906	ENST00000262302	T	0.42131	0.98	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.70885	0.3275	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79500	-0.1778	10	0.87932	D	0	-5.4419	15.1837	0.72982	0.0:0.0:1.0:0.0	.	120	Q9Y5Y2	NUBP2_HUMAN	Y	120	ENSP00000262302:D120Y	ENSP00000262302:D120Y	D	+	1	0	NUBP2	1777702	1.000000	0.71417	0.736000	0.30914	0.976000	0.68499	6.078000	0.71282	2.167000	0.68274	0.561000	0.74099	GAC		0.662	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			T	1837701	G	T	1837701	1	4	81	0	1	0	0	0	0	0	0	0	10718	1058	37	4		4	NUBP2	16	1837701	IGR	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10		1837701	88517052	78	5480											
HMOX2	3163	hgsc.bcm.edu	37	16	4557884	4557884	+	Silent	SNP	G	G	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:4557884G>T	ENST00000570646.1	+	4	980	c.375G>T	c.(373-375)gtG>gtT	p.V125V	HMOX2_ENST00000398595.3_Silent_p.V125V|HMOX2_ENST00000219700.6_Silent_p.V125V|HMOX2_ENST00000406590.2_Silent_p.V125V|HMOX2_ENST00000575120.1_Silent_p.V96V|HMOX2_ENST00000414777.1_Silent_p.V125V|HMOX2_ENST00000458134.3_Silent_p.V125V	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	125					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						AGGAGCAGGTGCAGTGCCCCA	0.582																																																0													59	55	57					16																	4557884		2197	4300	6497	SO:0001819	synonymous_variant	3163				CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.375G>T	chr16.hg19:g.4557884G>T			A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	ENST00000570646.1	hg19	CCDS10517.1																																																																																				0.582	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			T	4557884	G	T	4557884	2	4	81	1	0	0	0	0	0	0	0	1	7246	1306	46	4		4	HMOX2	16	4557884	Silent	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	2720183	4557884	85796869	79	5481											
SMG1	23049	hgsc.bcm.edu	37	16	18861438	18861438	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:18861438T>C	ENST00000446231.2	-	35	5706	c.5294A>G	c.(5293-5295)gAt>gGt	p.D1765G	SMG1_ENST00000389467.3_Missense_Mutation_p.D1765G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1765	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTCATCCTCATCTAAAGGAAT	0.388																																																0													64	62	63					16																	18861438		1955	4154	6109	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5294A>G	chr16.hg19:g.18861438T>C	ENSP00000402515:p.Asp1765Gly		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	hg19	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398251	0.62177	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.68479	-0.33;-0.33	5.83	5.83	0.93111	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.68265	0.2982	N	0.14661	0.345	0.50313	D	0.999861	D;D	0.67145	0.996;0.993	D;D	0.74674	0.981;0.984	T	0.68187	-0.5475	10	0.27785	T	0.31	.	16.1982	0.82046	0.0:0.0:0.0:1.0	.	1625;1765	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	G	1765	ENSP00000402515:D1765G;ENSP00000374118:D1765G	ENSP00000374118:D1765G	D	-	2	0	SMG1	18768939	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.891000	0.69782	2.226000	0.72624	0.533000	0.62120	GAT		0.388	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		C	18861438	T	C	18861438	3	2	81	1	0	0	0	0	1	0	0	0	14801	1435	50	3	5807	3	SMG1	16	18861438	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10	14303554	18861438	71493315	80	5482											
ACSM2B	348158	hgsc.bcm.edu	37	16	20559488	20559488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:20559488G>A	ENST00000329697.6	-	8	1162	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.Q253*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.Q332*|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.Q332*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	332					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGGCAGTTCTGTAGATGGGGG	0.522																																																0													118	124	122					16																	20559488		2201	4300	6501	SO:0001587	stop_gained	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.994C>T	chr16.hg19:g.20559488G>A	ENSP00000327453:p.Gln332*		Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	hg19	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065183	0.93898	.	.	ENSG00000066813	ENST00000329697	.	.	.	3.37	-1.99	0.07457	.	1.249910	0.05709	N	0.595506	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-0.7319	14.1154	0.65149	0.0:0.0:0.2719:0.7281	.	.	.	.	X	332	.	ENSP00000327453:Q332X	Q	-	1	0	ACSM2B	20466989	0.000000	0.05858	0.015000	0.15790	0.297000	0.27493	-0.804000	0.04535	-0.475000	0.06852	-0.407000	0.06327	CAG		0.522	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		A	20559488	G	A	20559488	4	1	81	1	0	0	0	0	0	1	0	0	184	1386	48	2	767	2	ACSM2B	16	20559488	Nonsense_Mutation	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	1698050	20559488	69795265	81	5483											
LOC100132247	100132247	hgsc.bcm.edu	37	16	22545744	22545755	+	In_Frame_Del	DEL	TCCACCCTCAGC	TCCACCCTCAGC	-	rs373344256		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	TCCACCCTCAGC	TCCACCCTCAGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:22545744_22545755delTCCACCCTCAGC	ENST00000517539.1	+	8	1515_1526	c.1440_1451delTCCACCCTCAGC	c.(1438-1452)cttccaccctcagct>ctt	p.PPSA485del	NPIPB5_ENST00000424340.1_In_Frame_Del_p.PPSA485del|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	485	Pro-rich.					integral component of membrane (GO:0016021)											TCACTCCCCTTCCACCCTCAGCTCCACCCTCA	0.571																																																0										15,1619		1,13,803							0			1	14,2538		3,8,1265	no	coding	LOC100132247	NM_001135865.1		4,21,2068	A1A1,A1R,RR		0.5486,0.918,0.6928				29,4157				SO:0001651	inframe_deletion	0				CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1440_1451delTCCACCCTCAGC	chr16.hg19:g.22545744_22545755delTCCACCCTCAGC	ENSP00000430633:p.Pro485_Ala488del		B4DK13	In_Frame_Del	DEL	ENST00000517539.1	hg19	CCDS45443.1																																																																																				0.571	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		-	22545755	TCCACCCTCAGC	-	22545744	7	5	81	1	0	1	0	1	0	0	0	0	8870	1770	62	0	1466	0	LOC100132247	16	22545744	In_Frame_Del	DEL	TCCACCCTCAGC	TCGA-A4-A48D-01A-11D-A25F-10	1986256	22545744	67809009	82	5484											
BANP	54971	hgsc.bcm.edu	37	16	88105728	88105728	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr16:88105728G>A	ENST00000393207.1	+	13	1619	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	BANP_ENST00000286122.7_Silent_p.A466A|BANP_ENST00000393208.2_Silent_p.A438A|BANP_ENST00000355163.5_Silent_p.A444A|BANP_ENST00000479780.2_Silent_p.A413A|BANP_ENST00000538234.1_Silent_p.A455A|BANP_ENST00000481948.1_3'UTR|BANP_ENST00000355022.4_Silent_p.A416A	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	466					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCGCGGCGGCGGGCGTGGATG	0.711																																																0													13	15	14					16																	88105728		2187	4283	6470	SO:0001819	synonymous_variant	54971			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1398G>A	chr16.hg19:g.88105728G>A			A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	hg19	CCDS54054.1																																																																																				0.711	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		A	88105728	G	A	88105728	2	1	81	1	0	0	0	0	0	0	0	1	1310	1103	39	1		1	BANP	16	88105728	Silent	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	65559984	88105728	2249025	83	5485											
C17orf37	84299	hgsc.bcm.edu	37	17	37886504	37886504	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr17:37886504T>C	ENST00000394231.3	-	2	421	c.130A>G	c.(130-132)Agt>Ggt	p.S44G	ERBB2_ENST00000584888.1_3'UTR|MIEN1_ENST00000474210.1_Intron|MIEN1_ENST00000577810.1_Missense_Mutation_p.S44G			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	44					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										TTCACAGCACTGGCCAGCTCC	0.657											OREG0024383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													28	31	30					17																	37886504		2202	4300	6502	SO:0001583	missense	84299			AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"chromosome 17 open reading frame 37"	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.130A>G	chr17.hg19:g.37886504T>C	ENSP00000377778:p.Ser44Gly	874		Missense_Mutation	SNP	ENST00000394231.3	hg19	CCDS11344.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505978	0.64410	.	.	ENSG00000141741	ENST00000394231	T	0.43688	0.94	4.91	4.91	0.64330	.	0.105490	0.64402	D	0.000008	T	0.34948	0.0915	L	0.39898	1.24	0.38895	D	0.957206	B	0.26935	0.164	B	0.22880	0.042	T	0.27773	-1.0064	10	0.48119	T	0.1	-18.1594	13.6518	0.62314	0.0:0.0:0.0:1.0	.	44	Q9BRT3	MIEN1_HUMAN	G	44	ENSP00000377778:S44G	ENSP00000377778:S44G	S	-	1	0	C17orf37	35140030	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	5.252000	0.65445	2.069000	0.61940	0.402000	0.26972	AGT		0.657	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257020.3	NM_032339		C	37886504	T	C	37886504	3	2	81	1	0	0	0	0	1	0	0	0	1856	1580	55	3	229	3	C17orf37	17	37886504	Missense_Mutation	SNP	T	TCGA-A4-A48D-01A-11D-A25F-10		37886504	43308706	84	5486											
SMCHD1	23347	hgsc.bcm.edu	37	18	2703754	2703754	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr18:2703754A>C	ENST00000320876.6	+	13	2050	c.1712A>C	c.(1711-1713)gAt>gCt	p.D571A	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.D571A	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	571					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAGAAGTATGATAAACAAATA	0.343																																																0													74	75	75					18																	2703754		1821	4085	5906	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1712A>C	chr18.hg19:g.2703754A>C	ENSP00000326603:p.Asp571Ala		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	hg19	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577974	0.45902	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.64260	-0.09;-0.06	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	L	0.59436	1.845	0.48288	D	0.999625	D	0.89917	1.0	D	0.83275	0.996	T	0.78949	-0.2002	10	0.87932	D	0	-11.3702	15.6552	0.77129	1.0:0.0:0.0:0.0	.	571	A6NHR9	SMHD1_HUMAN	A	571	ENSP00000326603:D571A;ENSP00000261598:D571A	ENSP00000261598:D571A	D	+	2	0	SMCHD1	2693754	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.503000	0.90509	2.088000	0.63022	0.460000	0.39030	GAT		0.343	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			C	2703754	A	C	2703754	3	2	81	1	0	0	0	0	1	0	0	0	14794	333	12	5	1762	5	SMCHD1	18	2703754	Missense_Mutation	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10		2703754	75373494	85	5487											
PIK3C3	5289	hgsc.bcm.edu	37	18	39542509	39542509	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr18:39542509C>A	ENST00000262039.4	+	3	399	c.313C>A	c.(313-315)Caa>Aaa	p.Q105K	PIK3C3_ENST00000398870.3_Missense_Mutation_p.Q42K|PIK3C3_ENST00000586545.1_Missense_Mutation_p.Q105K	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	105	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CAGGAATGCCCAAGTGGCCCT	0.433										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)											0													101	91	94					18																	39542509		2203	4300	6503	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.313C>A	chr18.hg19:g.39542509C>A	ENSP00000262039:p.Gln105Lys		Q15134	Missense_Mutation	SNP	ENST00000262039.4	hg19	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104641	0.94245	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.76709	-1.04;-1.04	5.88	5.88	0.94601	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.81079	0.4748	M	0.78285	2.405	0.58432	D	0.999994	B;B	0.29341	0.073;0.242	B;B	0.33196	0.067;0.159	T	0.76887	-0.2793	9	.	.	.	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	42;105	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	K	105;42	ENSP00000262039:Q105K;ENSP00000381845:Q42K	.	Q	+	1	0	PIK3C3	37796507	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.805000	0.69143	2.789000	0.95967	0.591000	0.81541	CAA		0.433	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		A	39542509	C	A	39542509	3	1	81	1	0	0	0	0	1	0	0	0	11914	595	21	4	323	4	PIK3C3	18	39542509	Missense_Mutation	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10	36838755	39542509	38534739	86	5488											
MYO1F	4542	hgsc.bcm.edu	37	19	8642191	8642191	+	Splice_Site	SNP	C	C	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr19:8642191C>G	ENST00000338257.8	-	1	270	c.3G>C	c.(1-3)atG>atC	p.M1I	MYO1F_ENST00000595046.1_5'UTR	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAGGACTTACCATGGTGGGGG	0.587																																																0													44	45	44					19																	8642191		1908	4116	6024	SO:0001630	splice_region_variant	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.3+1G>C	chr19.hg19:g.8642191C>G			Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	hg19	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237181	0.22711	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.86164	-2.08	3.64	3.64	0.41730	.	0.629994	0.14357	N	0.324717	T	0.78597	0.4308	.	.	.	0.80722	D	1	B;B;B	0.20261	0.0;0.009;0.043	B;B;B	0.14023	0.001;0.003;0.01	T	0.71590	-0.4547	8	.	.	.	.	11.03	0.47767	0.0:1.0:0.0:0.0	.	1;1;1	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	I	46;1	ENSP00000344871:M1I	.	M	-	3	0	MYO1F	8548191	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	3.368000	0.52357	2.028000	0.59812	0.462000	0.41574	ATG		0.587	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		Missense_Mutation	G	8642191	C	G	8642191	5	3	81	1	0	0	0	0	0	0	1	0	10075	608	21	4	3405	4	MYO1F	19	8642191	Splice_Site	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10		8642191	50486792	87	5489											
ZNF101	94039	hgsc.bcm.edu	37	19	19790040	19790040	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr19:19790040delA	ENST00000592502.1	+	4	352	c.242delA	c.(241-243)gaafs	p.E81fs	ZNF101_ENST00000415784.2_5'UTR|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	81	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAACACAGAGAAACTTTCAGC	0.413																																																0													88	82	84					19																	19790040		2203	4300	6503	SO:0001589	frameshift_variant	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.242delA	chr19.hg19:g.19790040delA	ENSP00000468049:p.Glu81fs		C9JU83|Q0VDG9	Frame_Shift_Del	DEL	ENST00000592502.1	hg19	CCDS32971.1																																																																																				0.413	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		-	19790040	A	-	19790040	7	5	81	1	0	1	0	1	0	0	0	0	17719	246	9	0	256	0	ZNF101	19	19790040	Frame_Shift_Del	DEL	A	TCGA-A4-A48D-01A-11D-A25F-10	11147849	19790040	39338943	88	5490											
GAPDHS	26330	hgsc.bcm.edu	37	19	36029207	36029207	+	Splice_Site	SNP	A	A	C	rs111871741		TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr19:36029207A>C	ENST00000222286.4	+	3	361		c.e3-1		AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTCCCTGGCCAGATTTGGACG	0.567																																																0													59	40	46					19																	36029207		2203	4300	6503	SO:0001630	splice_region_variant	26330			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.246-1A>C	chr19.hg19:g.36029207A>C			B2RC82|O60823|Q6JTT9|Q9HCU6	Splice_Site	SNP	ENST00000222286.4	hg19	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927280	0.73327	.	.	ENSG00000105679	ENST00000222286	.	.	.	5.3	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0531	0.36389	0.9122:0.0:0.0878:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAPDHS	40721047	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	8.908000	0.92640	0.848000	0.35191	0.533000	0.62120	.		0.567	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364	Intron	C	36029207	A	C	36029207	5	2	81	1	0	0	0	0	0	0	1	0	6239	202	7	5	254	5	GAPDHS	19	36029207	Splice_Site	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10	16239167	36029207	23099776	89	5491											
C20orf46	55321	hgsc.bcm.edu	37	20	1161648	1161648	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr20:1161648G>A	ENST00000381894.3	-	2	1286	c.615C>T	c.(613-615)taC>taT	p.Y205Y	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	205						integral component of membrane (GO:0016021)											TCCTCCGGCGGTACAGCTCGC	0.652																																																0													56	50	52					20																	1161648		2203	4300	6503	SO:0001819	synonymous_variant	55321			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 46"	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.615C>T	chr20.hg19:g.1161648G>A			D3DVW5	Silent	SNP	ENST00000381894.3	hg19	CCDS13011.1																																																																																				0.652	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		A	1161648	G	A	1161648	2	1	81	1	0	0	0	0	0	0	0	1	2115	1256	44	2		2	C20orf46	20	1161648	Silent	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10		1161648	61863872	90	5492											
MYBL2	4605	hgsc.bcm.edu	37	20	42310472	42310472	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr20:42310472A>G	ENST00000217026.4	+	3	290	c.163A>G	c.(163-165)Aag>Gag	p.K55E	MYBL2_ENST00000396863.4_Intron	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	55	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCAGGACTGGAAGTTCCTGGC	0.602																																																0													64	52	56					20																	42310472		2203	4300	6503	SO:0001583	missense	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.163A>G	chr20.hg19:g.42310472A>G	ENSP00000217026:p.Lys55Glu		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	hg19	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	A	32	5.164691	0.94727	.	.	ENSG00000101057	ENST00000217026	T	0.15718	2.4	5.61	5.61	0.85477	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	L	0.46567	1.45	0.80722	D	1	D	0.60160	0.987	D	0.62955	0.909	T	0.01613	-1.1312	10	0.54805	T	0.06	-37.5596	15.101	0.72276	1.0:0.0:0.0:0.0	.	55	P10244	MYBB_HUMAN	E	55	ENSP00000217026:K55E	ENSP00000217026:K55E	K	+	1	0	MYBL2	41743886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.926000	0.92839	2.281000	0.76405	0.533000	0.62120	AAG		0.602	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		G	42310472	A	G	42310472	3	3	81	1	0	0	0	0	1	0	0	0	10012	247	9	3	173	3	MYBL2	20	42310472	Missense_Mutation	SNP	A	TCGA-A4-A48D-01A-11D-A25F-10	41148824	42310472	20715048	91	5493											
SGSM3	27352	hgsc.bcm.edu	37	22	40800334	40800334	+	Silent	SNP	C	C	T			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr22:40800334C>T	ENST00000248929.9	+	5	430	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	SGSM3_ENST00000454798.2_Silent_p.L14L	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCAGGCCCACCTGGAGTTCAC	0.627																																																0													53	49	51					22																	40800334		2203	4300	6503	SO:0001819	synonymous_variant	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.241C>T	chr22.hg19:g.40800334C>T				Silent	SNP	ENST00000248929.9	hg19	CCDS14002.1																																																																																				0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		T	40800334	C	T	40800334	2	4	81	1	0	0	0	0	0	0	0	1	14230	680	24	2		2	SGSM3	22	40800334	Silent	SNP	C	TCGA-A4-A48D-01A-11D-A25F-10		40800334	10504232	92	5494											
MKL1	57591	hgsc.bcm.edu	37	22	40825749	40825749	+	Silent	SNP	G	G	A			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chr22:40825749G>A	ENST00000355630.3	-	7	752	c.162C>T	c.(160-162)ctC>ctT	p.L54L	MKL1_ENST00000402042.1_Silent_p.L54L|MKL1_ENST00000396617.3_Silent_p.L54L|MKL1_ENST00000402630.1_Silent_p.L54L|MKL1_ENST00000407029.1_Silent_p.L54L	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	54	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.L54L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTTGGCCTGGAGGGATGGCT	0.577			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	1	Substitution - coding silent(1)	central_nervous_system(1)											89	80	83					22																	40825749		2203	4300	6503	SO:0001819	synonymous_variant	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.162C>T	chr22.hg19:g.40825749G>A			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	hg19	CCDS14003.1																																																																																				0.577	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		A	40825749	G	A	40825749	2	1	81	1	0	0	0	0	0	0	0	1	9603	1161	41	2		2	MKL1	22	40825749	Silent	SNP	G	TCGA-A4-A48D-01A-11D-A25F-10	25415	40825749	10478817	93	5495											
KDM6A	7403	hgsc.bcm.edu	37	X	44922715	44922716	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-A4-A48D-01A-11D-A25F-10	TCGA-A4-A48D-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5ecc88f7-8391-4168-af11-07a6bf9b3652	b87ba993-24fc-4472-bbbc-d4b8af979060	g.chrX:44922715_44922716GG>TA	ENST00000377967.4	+	16	1617_1618	c.1576_1577GG>TA	c.(1576-1578)GGg>TAg	p.G526*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.G533*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.G447*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.G481*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	526	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATTCCTAATGGGCCAACAGCT	0.485			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)																																								SO:0001587	stop_gained	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	Exception_encountered	chrX.hg19:g.44922715_44922716delinsTA	ENSP00000367203:p.Gly526*		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	hg19	CCDS14265.1																																																																																				0.485	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		TA	44922716	GG	TA	44922715	4	4	81	1	0	0	0	0	0	1	0	0	8139	1348	47	4	1638	4	KDM6A	23	44922715	Nonsense_Mutation	DNP	GG	TCGA-A4-A48D-01A-11D-A25F-10		44922715	110347845	94	5496											
KIAA1751	85452	hgsc.bcm.edu	37	1	1891408	1891409	+	IGR	DEL	GC	GC	-			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr1:1891408_1891409delGC								TMEM52 (40696 upstream) : C1orf222 (28153 downstream)																							CTCACCATCGGCTTGAAGGTGA	0.619											OREG0013001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001628	intergenic_variant	85452																															chr1.hg19:g.1891408_1891409delGC		599		Frame_Shift_Del	DEL		hg19																																																																																				0	0.619									-	1891409	GC	-	1891408	6	5	82	0	1	1	0	1	0	0	0	0	8258	1203	42	0		0	KIAA1751	1	1891408	IGR	DEL	GC	TCGA-A4-A4ZT-01A-11D-A26P-10		1891408	247359213	1	5497											
UBR4	23352	hgsc.bcm.edu	37	1	19524166	19524172	+	Frame_Shift_Del	DEL	ATTACGA	ATTACGA	-	rs200068490		TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	ATTACGA	ATTACGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr1:19524166_19524172delATTACGA	ENST00000375254.3	-	7	912_918	c.885_891delTCGTAAT	c.(883-891)gttcgtaatfs	p.VRN295fs	UBR4_ENST00000375226.2_Frame_Shift_Del_p.VRN295fs|UBR4_ENST00000375267.2_Frame_Shift_Del_p.VRN295fs|UBR4_ENST00000375217.2_Frame_Shift_Del_p.VRN295fs	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	295					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCTTACCCATTACGAACAGCAGTGG	0.464																																																0																																										SO:0001589	frameshift_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.885_891delTCGTAAT	chr1.hg19:g.19524166_19524172delATTACGA	ENSP00000364403:p.Val295fs		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Frame_Shift_Del	DEL	ENST00000375254.3	hg19	CCDS189.1																																																																																				0.464	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		-	19524172	ATTACGA	-	19524166	7	5	82	1	0	1	0	1	0	0	0	0	16909	214	8	0	15060	0	UBR4	1	19524166	Frame_Shift_Del	DEL	ATTACGA	TCGA-A4-A4ZT-01A-11D-A26P-10	17632758	19524166	229726455	2	5498											
CSMD2	114784	hgsc.bcm.edu	37	1	34052133	34052133	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr1:34052133T>A	ENST00000373381.4	-	46	7198	c.7022A>T	c.(7021-7023)cAg>cTg	p.Q2341L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2343	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTTCAAACTGCAGGTAGGT	0.493																																																0													105	96	99					1																	34052133		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7022A>T	chr1.hg19:g.34052133T>A	ENSP00000362479:p.Gln2341Leu		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	hg19		.	.	.	.	.	.	.	.	.	.	T	18.56	3.650854	0.67472	.	.	ENSG00000121904	ENST00000373381	T	0.66815	-0.23	5.83	5.83	0.93111	Complement control module (2);Sushi/SCR/CCP (3);	0.061993	0.64402	D	0.000004	T	0.65565	0.2703	M	0.64260	1.97	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.24006	0.05;0.029	T	0.60682	-0.7215	10	0.27082	T	0.32	.	15.3817	0.74661	0.0:0.0:0.0:1.0	.	2343;2341	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	2341	ENSP00000362479:Q2341L	ENSP00000241312:Q2343L	Q	-	2	0	CSMD2	33824720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.018000	0.70811	2.227000	0.72691	0.528000	0.53228	CAG		0.493	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		A	34052133	T	A	34052133	3	1	82	1	0	0	0	0	1	0	0	0	3947	1580	55	5	3527	5	CSMD2	1	34052133	Missense_Mutation	SNP	T	TCGA-A4-A4ZT-01A-11D-A26P-10	14527967	34052133	215198488	3	5499											
KIAA0754	643314	hgsc.bcm.edu	37	1	39878312	39878312	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr1:39878312C>T	ENST00000530275.1	+	1	2162	c.1967C>T	c.(1966-1968)tCa>tTa	p.S656L	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	656										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGGCATCATCAGAGGGAGGG	0.428																																																0													85	83	84					1																	39878312		1910	4132	6042	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1967C>T	chr1.hg19:g.39878312C>T	ENSP00000431179:p.Ser656Leu		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.93	1.491329	0.26774	.	.	ENSG00000255103	ENST00000530275	D	0.86230	-2.09	5.48	-0.479	0.12089	.	.	.	.	.	T	0.74489	0.3723	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.63047	-0.6724	9	0.87932	D	0	.	2.2667	0.04080	0.1278:0.5256:0.1262:0.2204	.	656	O94854	K0754_HUMAN	L	656	ENSP00000431179:S656L	ENSP00000431179:S656L	S	+	2	0	RP4-562N20.1	39650899	0.000000	0.05858	0.032000	0.17829	0.874000	0.50279	-0.517000	0.06275	0.188000	0.20168	0.655000	0.94253	TCA		0.428	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		T	39878312	C	T	39878312	3	4	82	1	0	0	0	0	1	0	0	0	8194	838	29	2	2377	2	KIAA0754	1	39878312	Missense_Mutation	SNP	C	TCGA-A4-A4ZT-01A-11D-A26P-10	5826179	39878312	209372309	4	5500											
FNDC7	163479	hgsc.bcm.edu	37	1	109265207	109265229	+	Splice_Site	DEL	GAAAACTGGTATGTAAACAAGAG	GAAAACTGGTATGTAAACAAGAG	-			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	GAAAACTGGTATGTAAACAAGAG	GAAAACTGGTATGTAAACAAGAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr1:109265207_109265229delGAAAACTGGTATGTAAACAAGAG	ENST00000370017.3	+	5	1126_1133	c.849_856delGAAAACTGGTATGTAAACAAGAG	c.(847-858)ctgaaaactggt>ctgt	p.KTG284fs	FNDC7_ENST00000271311.2_Splice_Site_p.KTG285fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	284	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CAATGACCCTGAAAACTGGTATGTAAACAAGAGTGAGACTGCT	0.439																																																0																																										SO:0001630	splice_region_variant	163479				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.856+1GAAAACTGGTATGTAAACAAGAG>-	chr1.hg19:g.109265207_109265229delGAAAACTGGTATGTAAACAAGAG			A1L468|E9PAZ5|Q6PF16|Q8NA51	In_Frame_Del	DEL	ENST00000370017.3	hg19	CCDS44185.1																																																																																				0.439	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532	Frame_Shift_Del	-	109265229	GAAAACTGGTATGTAAACAAGAG	-	109265207	8	5	82	1	0	1	0	1	0	0	1	0	5975	1277	45	0	867	0	FNDC7	1	109265207	Splice_Site	DEL	GAAAACTGGTATGTAAACAAGAG	TCGA-A4-A4ZT-01A-11D-A26P-10	69386895	109265207	139985414	5	5501											
STXBP3	6814	hgsc.bcm.edu	37	1	109338856	109338856	+	Splice_Site	SNP	G	G	C			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr1:109338856G>C	ENST00000370008.3	+	14	1161	c.1111G>C	c.(1111-1113)Gac>Cac	p.D371H		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	371					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTCATTAAGGACCTGGCACT	0.358																																																0													54	54	54					1																	109338856		2203	4300	6503	SO:0001630	splice_region_variant	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1111-1G>C	chr1.hg19:g.109338856G>C			A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	hg19	CCDS790.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298070	0.81025	.	.	ENSG00000116266	ENST00000370008	T	0.79247	-1.25	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.89114	0.6623	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88884	0.3341	9	.	.	.	-7.6976	20.1392	0.98050	0.0:0.0:1.0:0.0	.	371	O00186	STXB3_HUMAN	H	371	ENSP00000359025:D371H	.	D	+	1	0	STXBP3	109140379	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.716000	0.91420	2.751000	0.94390	0.591000	0.81541	GAC		0.358	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269	Missense_Mutation	C	109338856	G	C	109338856	5	2	82	1	0	0	0	0	0	0	1	0	15359	1188	41	4	1165	4	STXBP3	1	109338856	Splice_Site	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	73649	109338856	139911765	6	5502											
ATP6V1B1	525	hgsc.bcm.edu	37	2	71188132	71188132	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr2:71188132A>T	ENST00000234396.4	+	7	740	c.667A>T	c.(667-669)Atc>Ttc	p.I223F	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.I223F|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	223					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CAACTTCGCCATCGTCTTTGC	0.587																																																0													94	63	74					2																	71188132		2203	4300	6503	SO:0001583	missense	525			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"ATPases / V-type"	853	protein-coding gene	gene with protein product	"Renal tubular acidosis with deafness"	192132	"vacuolar proton pump 3"	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.667A>T	chr2.hg19:g.71188132A>T	ENSP00000234396:p.Ile223Phe		Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	hg19	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541872	0.85917	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314;ENST00000454446	D;D;D	0.81908	-1.55;-1.55;-1.55	5.04	5.04	0.67666	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.64402	D	0.000011	D	0.91036	0.7180	M	0.84585	2.705	0.80722	D	1	D;D;D	0.67145	0.996;0.979;0.979	D;D;D	0.74674	0.984;0.93;0.93	D	0.92308	0.5855	10	0.87932	D	0	-35.7839	12.7736	0.57436	1.0:0.0:0.0:0.0	.	198;223;223	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	F	223;198;223;240	ENSP00000234396:I223F;ENSP00000388353:I223F;ENSP00000408361:I240F	ENSP00000234396:I223F	I	+	1	0	ATP6V1B1	71041640	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	7.140000	0.77322	2.133000	0.65898	0.533000	0.62120	ATC		0.587	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		T	71188132	A	T	71188132	3	4	82	1	0	0	0	0	1	0	0	0	1178	217	8	5	693	5	ATP6V1B1	2	71188132	Missense_Mutation	SNP	A	TCGA-A4-A4ZT-01A-11D-A26P-10		71188132	172011241	7	5503											
CCDC74A	90557	hgsc.bcm.edu	37	2	132290624	132290624	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr2:132290624A>G	ENST00000295171.6	+	7	1127	c.989A>G	c.(988-990)aAg>aGg	p.K330R	CCDC74A_ENST00000409856.3_Missense_Mutation_p.K264R|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	330										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GTCTCCACCAAGAGCCTCTCC	0.637																																																0													55	62	60					2																	132290624		2202	4280	6482	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.989A>G	chr2.hg19:g.132290624A>G	ENSP00000295171:p.Lys330Arg		Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	hg19	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	9.783	1.175737	0.21704	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.32988	1.43;1.43	3.07	3.07	0.35406	.	0.000000	0.34603	U	0.003821	T	0.46229	0.1382	L	0.56769	1.78	0.32221	N	0.57519	D;P	0.67145	0.996;0.927	D;D	0.75484	0.986;0.953	T	0.55379	-0.8150	10	0.66056	D	0.02	.	7.967	0.30104	1.0:0.0:0.0:0.0	.	264;330	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	R	330;264	ENSP00000295171:K330R;ENSP00000387009:K264R	ENSP00000295171:K330R	K	+	2	0	CCDC74A	132007094	0.982000	0.34865	0.108000	0.21378	0.014000	0.08584	1.298000	0.33412	1.179000	0.42884	0.352000	0.21897	AAG		0.637	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		G	132290624	A	G	132290624	3	3	82	1	0	0	0	0	1	0	0	0	2849	72	3	3	1015	3	CCDC74A	2	132290624	Missense_Mutation	SNP	A	TCGA-A4-A4ZT-01A-11D-A26P-10	61102492	132290624	110908749	8	5504											
PTPRN	5798	hgsc.bcm.edu	37	2	220161482	220161482	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr2:220161482C>T	ENST00000295718.2	-	16	2539	c.2299G>A	c.(2299-2301)Gcc>Acc	p.A767T	PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Missense_Mutation_p.A677T|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.A738T|MIR153-1_ENST00000384914.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	767	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ATGGGGCTGGCGTTGATGTAA	0.607																																																0													116	99	104					2																	220161482		2203	4300	6503	SO:0001583	missense	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2299G>A	chr2.hg19:g.220161482C>T	ENSP00000295718:p.Ala767Thr		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	hg19	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590157	0.86851	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.59364	0.27;0.27;0.27	4.24	4.24	0.50183	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.151418	0.41938	D	0.000789	D	0.85221	0.5647	H	0.98594	4.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.956;0.998	D	0.91588	0.5284	10	0.87932	D	0	.	16.4513	0.83991	0.0:1.0:0.0:0.0	.	738;767	Q6NSL1;Q16849	.;PTPRN_HUMAN	T	738;767;738;677	ENSP00000386638:A738T;ENSP00000295718:A767T;ENSP00000444244:A677T	ENSP00000295718:A767T	A	-	1	0	PTPRN	219869726	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.198000	0.77823	2.187000	0.69744	0.563000	0.77884	GCC		0.607	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			T	220161482	C	T	220161482	3	4	82	1	0	0	0	0	1	0	0	0	12813	768	27	1	672	1	PTPRN	2	220161482	Missense_Mutation	SNP	C	TCGA-A4-A4ZT-01A-11D-A26P-10	87870858	220161482	23037891	9	5505											
DOCK10	55619	hgsc.bcm.edu	37	2	225688235	225688235	+	Missense_Mutation	SNP	C	C	T	rs371861682		TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr2:225688235C>T	ENST00000258390.7	-	28	3233	c.3166G>A	c.(3166-3168)Gtt>Att	p.V1056I	DOCK10_ENST00000409592.3_Missense_Mutation_p.V1050I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1056					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V1054F(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AATCTGGCAACGCTGTGGTTT	0.413																																																1	Substitution - Missense(1)	breast(1)						C	ILE/VAL	0,3770		0,0,1885	191	181	184		3166	4.2	0.8	2		184	2,8232		0,2,4115	no	missense	DOCK10	NM_014689.2	29	0,2,6000	TT,TC,CC		0.0243,0.0,0.0167	benign	1056/2187	225688235	2,12002	1885	4117	6002	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3166G>A	chr2.hg19:g.225688235C>T	ENSP00000258390:p.Val1056Ile		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	hg19	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292507	0.40594	0.0	2.43E-4	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.67171	3.85;-0.25	6.0	4.2	0.49525	.	0.302824	0.35349	N	0.003275	T	0.55146	0.1902	L	0.38838	1.175	0.21933	N	0.999469	B;B	0.12013	0.005;0.001	B;B	0.08055	0.002;0.003	T	0.49542	-0.8929	10	0.49607	T	0.09	.	10.9896	0.47541	0.0:0.7834:0.0:0.2166	.	1056;1050	Q96BY6;B3FL70	DOC10_HUMAN;.	I	1050;1056	ENSP00000386694:V1050I;ENSP00000258390:V1056I	ENSP00000258390:V1056I	V	-	1	0	DOCK10	225396479	0.057000	0.20700	0.828000	0.32881	0.970000	0.65996	0.541000	0.23207	0.862000	0.35528	0.643000	0.83706	GTT		0.413	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			T	225688235	C	T	225688235	3	4	82	1	0	0	0	0	1	0	0	0	4687	536	19	1	3510	1	DOCK10	2	225688235	Missense_Mutation	SNP	C	TCGA-A4-A4ZT-01A-11D-A26P-10	5526753	225688235	17511138	10	5506											
SP140L	93349	hgsc.bcm.edu	37	2	231264856	231264856	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr2:231264856T>A	ENST00000415673.2	+	15	1298	c.1212T>A	c.(1210-1212)gaT>gaA	p.D404E	SP140L_ENST00000444636.1_Missense_Mutation_p.D404E|SP140L_ENST00000243810.6_Missense_Mutation_p.D404E|SP140L_ENST00000396563.4_Missense_Mutation_p.D369E	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	404						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GAAACTTGGATGAGTGTGAGG	0.512																																																0													181	183	182					2																	231264856		2043	4208	6251	SO:0001583	missense	93349			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1212T>A	chr2.hg19:g.231264856T>A	ENSP00000397911:p.Asp404Glu		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	hg19	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.883793	0.51908	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	3.5	-2.37	0.06643	.	.	.	.	.	T	0.81235	0.4780	L	0.52126	1.63	0.09310	N	1	P;P	0.45044	0.849;0.663	B;P	0.45794	0.382;0.493	T	0.71507	-0.4572	9	0.72032	D	0.01	.	0.2987	0.00269	0.1938:0.243:0.1988:0.3644	.	369;404	Q9H930-2;Q9H930-4	.;.	E	404;404;404;369	ENSP00000395195:D404E;ENSP00000397911:D404E;ENSP00000243810:D404E;ENSP00000379811:D369E	ENSP00000243810:D404E	D	+	3	2	SP140L	230973100	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-1.650000	0.01991	-0.178000	0.10672	-0.415000	0.06103	GAT		0.512	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		A	231264856	T	A	231264856	3	1	82	1	0	0	0	0	1	0	0	0	14969	1461	51	5	1270	5	SP140L	2	231264856	Missense_Mutation	SNP	T	TCGA-A4-A4ZT-01A-11D-A26P-10	5576621	231264856	11934517	11	5507											
OXTR	5021	hgsc.bcm.edu	37	3	8809352	8809352	+	Silent	SNP	G	G	T			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr3:8809352G>T	ENST00000316793.3	-	3	1146	c.522C>A	c.(520-522)atC>atA	p.I174I	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	174					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GCAGAGAGAAGATGTGCACCT	0.692																																																0													34	39	37					3																	8809352		2203	4300	6503	SO:0001819	synonymous_variant	5021				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.522C>A	chr3.hg19:g.8809352G>T			Q15071	Silent	SNP	ENST00000316793.3	hg19	CCDS2570.1																																																																																				0.692	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			T	8809352	G	T	8809352	2	4	82	1	0	0	0	0	0	0	0	1	11340	932	33	4		4	OXTR	3	8809352	Silent	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10		8809352	189213078	12	5508											
WDR1	9948	hgsc.bcm.edu	37	4	10099338	10099338	+	Silent	SNP	A	A	G			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr4:10099338A>G	ENST00000499869.2	-	5	748	c.555T>C	c.(553-555)atT>atC	p.I185I	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382452.2_Silent_p.I185I|WDR1_ENST00000382451.2_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	185			I -> V (in dbSNP:rs13441). {ECO:0000269|PubMed:15489334}.		blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CACTTACGCCAATTGTGAACT	0.507																																																0													62	66	65					4																	10099338		1963	4144	6107	SO:0001819	synonymous_variant	9948			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.555T>C	chr4.hg19:g.10099338A>G			A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	hg19	CCDS54740.1																																																																																				0.507	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			G	10099338	A	G	10099338	2	3	82	1	0	0	0	0	0	0	0	1	17277	126	5	3		3	WDR1	4	10099338	Silent	SNP	A	TCGA-A4-A4ZT-01A-11D-A26P-10		10099338	181054938	13	5509											
UBA6	55236	hgsc.bcm.edu	37	4	68536260	68536261	+	Frame_Shift_Ins	INS	-	-	T	rs140398587		TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr4:68536260_68536261insT	ENST00000322244.5	-	8	655_656	c.596_597insA	c.(595-597)ttcfs	p.F199fs	UBA6_ENST00000420827.2_Frame_Shift_Ins_p.F199fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	199					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATTCATCACCGAAATCACAAAA	0.267																																																0																																										SO:0001589	frameshift_variant	55236			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.596_597insA	chr4.hg19:g.68536260_68536261insT	ENSP00000313454:p.Phe199fs		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Frame_Shift_Ins	INS	ENST00000322244.5	hg19	CCDS3516.1																																																																																				0.267	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		T	68536261	-	T	68536260	7	5	82	1	0	1	1	0	0	0	0	0	16837	1049	37	0	2665	0	UBA6	4	68536260	Frame_Shift_Ins	INS	-	TCGA-A4-A4ZT-01A-11D-A26P-10	58436922	68536260	122618016	14	5510	51	2									
UBA6	55236	hgsc.bcm.edu	37	4	68536261	68536262	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr4:68536261_68536262insTT	ENST00000322244.5	-	8	654_655	c.595_596insAA	c.(595-597)ttcfs	p.F199fs	UBA6_ENST00000420827.2_Frame_Shift_Ins_p.F199fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	199					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTCATCACCGAAATCACAAAAT	0.272																																																0																																										SO:0001589	frameshift_variant	55236			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.595_596insAA	chr4.hg19:g.68536261_68536262insTT	ENSP00000313454:p.Phe199fs		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Frame_Shift_Ins	INS	ENST00000322244.5	hg19	CCDS3516.1																																																																																				0.272	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		TT	68536262	-	TT	68536261	7	5	82	1	0	1	1	0	0	0	0	0	16837	246	9	0	2666	0	UBA6	4	68536261	Frame_Shift_Ins	INS	-	TCGA-A4-A4ZT-01A-11D-A26P-10	1	68536261	122618015	15	5511	51	2									
ANK2	287	hgsc.bcm.edu	37	4	114277121	114277121	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr4:114277121C>A	ENST00000357077.4	+	38	7400	c.7347C>A	c.(7345-7347)caC>caA	p.H2449Q	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.H2416Q|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2449					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTCTTCACACAAAACCCCTG	0.502																																																0													75	74	74					4																	114277121		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7347C>A	chr4.hg19:g.114277121C>A	ENSP00000349588:p.His2449Gln		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734944	0.48939	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.70516	-0.48;-0.49	5.85	5.01	0.66863	.	0.000000	0.64402	D	0.000013	T	0.69015	0.3064	L	0.54323	1.7	0.80722	D	1	B;P	0.41848	0.144;0.763	B;P	0.44990	0.053;0.466	T	0.67665	-0.5612	9	.	.	.	.	11.2279	0.48895	0.0:0.8096:0.0:0.1904	.	2416;2449	Q01484;Q01484-4	ANK2_HUMAN;.	Q	2449;2416	ENSP00000349588:H2449Q;ENSP00000264366:H2416Q	.	H	+	3	2	ANK2	114496570	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.444000	0.21661	1.488000	0.48433	0.655000	0.94253	CAC		0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114277121	C	A	114277121	3	1	82	1	0	0	0	0	1	0	0	0	621	477	17	4	7562	4	ANK2	4	114277121	Missense_Mutation	SNP	C	TCGA-A4-A4ZT-01A-11D-A26P-10	45740860	114277121	76877155	16	5512											
AHRR	57491	hgsc.bcm.edu	37	5	353963	353963	+	Silent	SNP	C	C	T			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr5:353963C>T	ENST00000505113.1	+	3	237	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000316418.5_Silent_p.L65L|AHRR_ENST00000515206.1_Silent_p.L61L	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	65	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.L61V(2)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CATCTCCAAGCTGGACAAGCT	0.592																																																2	Substitution - Missense(2)	lung(2)											102	115	111					5																	353963		2130	4244	6374	SO:0001819	synonymous_variant	57491			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.193C>T	chr5.hg19:g.353963C>T			A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	hg19	CCDS56355.1																																																																																				0.592	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		T	353963	C	T	353963	2	4	82	1	0	0	0	0	0	0	0	1	417	796	28	2		2	AHRR	5	353963	Silent	SNP	C	TCGA-A4-A4ZT-01A-11D-A26P-10		353963	180561297	17	5513											
LIX1	167410	hgsc.bcm.edu	37	5	96443096	96443096	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr5:96443096C>A	ENST00000274382.4	-	3	650	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	119										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TGAACACTTTCCATAATGAAT	0.527																																																0													109	102	105					5																	96443096		2203	4300	6503	SO:0001587	stop_gained	167410				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"chromosome 5 open reading frame 11", "Lix1 homolog (mouse)"	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.355G>T	chr5.hg19:g.96443096C>A	ENSP00000274382:p.Glu119*		A8K4R9|Q8N7I2	Nonsense_Mutation	SNP	ENST00000274382.4	hg19	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	C	37	6.428078	0.97559	.	.	ENSG00000145721	ENST00000274382	.	.	.	6.17	6.17	0.99709	.	0.186655	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9396	13.6552	0.62333	0.0:0.9294:0.0:0.0706	.	.	.	.	X	119	.	ENSP00000274382:E119X	E	-	1	0	LIX1	96468852	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.753000	0.38359	2.941000	0.99782	0.655000	0.94253	GAA		0.527	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234		A	96443096	C	A	96443096	4	1	82	1	0	0	0	0	0	1	0	0	8833	864	30	4	509	4	LIX1	5	96443096	Nonsense_Mutation	SNP	C	TCGA-A4-A4ZT-01A-11D-A26P-10	96089133	96443096	84472164	18	5514											
HIST1H2BN	8341	hgsc.bcm.edu	37	6	27806755	27806755	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr6:27806755G>A	ENST00000396980.3	+	1	316	c.316G>A	c.(316-318)Gag>Aag	p.E106K	HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.E106K|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	106					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						GCTGCCAGGGGAGCTGGCCAA	0.677																																																0													57	61	60					6																	27806755		2203	4299	6502	SO:0001583	missense	8341			Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"Histones / Replication-dependent"	4749	protein-coding gene	gene with protein product		602801	"H2B histone family, member D", "histone 1, H2bn"	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.316G>A	chr6.hg19:g.27806755G>A	ENSP00000380177:p.Glu106Lys		B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	hg19	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	14.44	2.536027	0.45176	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.78126	-1.15;-1.15	4.71	4.71	0.59529	Histone-fold (2);	0.000000	0.43747	U	0.000529	T	0.78710	0.4326	M	0.93106	3.38	0.37318	D	0.90942	B;B	0.28713	0.014;0.22	B;B	0.26202	0.009;0.067	D	0.83433	0.0039	10	0.87932	D	0	.	17.5855	0.87980	0.0:0.0:1.0:0.0	.	106;106	Q99877;B2R4S9	H2B1N_HUMAN;.	K	106	ENSP00000446031:E106K;ENSP00000380177:E106K	ENSP00000380177:E106K	E	+	1	0	HIST1H2BN	27914734	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	7.723000	0.84788	2.537000	0.85549	0.650000	0.86243	GAG		0.677	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		A	27806755	G	A	27806755	3	1	82	1	0	0	0	0	1	0	0	0	7155	1175	41	2	318	2	HIST1H2BN	6	27806755	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10		27806755	143308312	19	5515											
PPP1R10	5514	hgsc.bcm.edu	37	6	30572781	30572781	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr6:30572781G>A	ENST00000376511.2	-	11	1496	c.944C>T	c.(943-945)aCg>aTg	p.T315M		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	315	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CTTGGCAGCCGTAGGTGACAG	0.468																																																0													47	57	53					6																	30572781		1511	2709	4220	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.944C>T	chr6.hg19:g.30572781G>A	ENSP00000365694:p.Thr315Met		O00405	Missense_Mutation	SNP	ENST00000376511.2	hg19	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084609	0.55861	.	.	ENSG00000204569	ENST00000376511	T	0.62498	0.02	5.06	5.06	0.68205	.	0.049773	0.85682	D	0.000000	T	0.61362	0.2341	N	0.19112	0.55	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.66799	-0.5832	10	0.56958	D	0.05	-10.3518	17.3696	0.87372	0.0:0.0:1.0:0.0	.	315	Q96QC0	PP1RA_HUMAN	M	315	ENSP00000365694:T315M	ENSP00000365694:T315M	T	-	2	0	PPP1R10	30680760	1.000000	0.71417	0.995000	0.50966	0.762000	0.43233	6.222000	0.72249	2.642000	0.89623	0.561000	0.74099	ACG		0.468	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		A	30572781	G	A	30572781	3	1	82	1	0	0	0	0	1	0	0	0	12357	1145	40	1	1918	1	PPP1R10	6	30572781	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	2766026	30572781	140542286	20	5516											
UNC5CL	222643	hgsc.bcm.edu	37	6	40999454	40999454	+	Missense_Mutation	SNP	T	T	A	rs145811250	byFrequency	TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr6:40999454T>A	ENST00000373164.1	-	5	1145	c.1085A>T	c.(1084-1086)aAt>aTt	p.N362I	UNC5CL_ENST00000470102.1_Intron|UNC5CL_ENST00000244565.3_Missense_Mutation_p.N362I			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	362	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AATGATCTCATTGGTTAGTGC	0.547																																																0													196	174	181					6																	40999454		2203	4300	6503	SO:0001583	missense	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1085A>T	chr6.hg19:g.40999454T>A	ENSP00000362258:p.Asn362Ile		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	hg19	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.024767	0.35701	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.14391	2.51;2.51	4.52	3.34	0.38264	.	0.124350	0.36482	N	0.002565	T	0.02649	0.0080	N	0.24115	0.695	0.37746	D	0.925799	B	0.11235	0.004	B	0.09377	0.004	T	0.35549	-0.9784	10	0.22109	T	0.4	-8.9542	6.7625	0.23548	0.0:0.1071:0.0:0.8929	.	362	Q8IV45	UN5CL_HUMAN	I	362	ENSP00000244565:N362I;ENSP00000362258:N362I	ENSP00000244565:N362I	N	-	2	0	UNC5CL	41107432	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	0.406000	0.21032	0.770000	0.33336	0.383000	0.25322	AAT		0.547	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		A	40999454	T	A	40999454	3	1	82	1	0	0	0	0	1	0	0	0	16999	1493	52	5	487	5	UNC5CL	6	40999454	Missense_Mutation	SNP	T	TCGA-A4-A4ZT-01A-11D-A26P-10	10426673	40999454	130115613	21	5517											
ACTB	60	hgsc.bcm.edu	37	7	5567473	5567473	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr7:5567473A>G	ENST00000331789.5	-	6	1225	c.1034T>C	c.(1033-1035)aTc>aCc	p.I345T	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	345					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGAGGCCAGGATGGAGCCGCC	0.612																																																0													67	70	69					7																	5567473		2203	4300	6503	SO:0001583	missense	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1034T>C	chr7.hg19:g.5567473A>G	ENSP00000349960:p.Ile345Thr		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	hg19	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.232891	0.58777	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95788	-3.81	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000013	D	0.98535	0.9511	H	0.94886	3.595	0.53005	D	0.99996	P	0.40032	0.699	D	0.79108	0.992	D	0.99293	1.0899	10	0.87932	D	0	.	14.9227	0.70851	1.0:0.0:0.0:0.0	.	345	P60709	ACTB_HUMAN	T	345;321;317;264	ENSP00000349960:I345T	ENSP00000440549:I264T	I	-	2	0	ACTB	5533999	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.991000	0.93514	2.114000	0.64651	0.529000	0.55759	ATC		0.612	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		G	5567473	A	G	5567473	3	3	82	1	0	0	0	0	1	0	0	0	193	333	12	3	97	3	ACTB	7	5567473	Missense_Mutation	SNP	A	TCGA-A4-A4ZT-01A-11D-A26P-10		5567473	153571190	22	5518											
AGK	55750	hgsc.bcm.edu	37	7	141352597	141352597	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr7:141352597G>C	ENST00000355413.4	+	16	1402	c.1142G>C	c.(1141-1143)gGc>gCc	p.G381A	AGK_ENST00000473247.1_Missense_Mutation_p.G353A|RP5-894A10.2_ENST00000467537.1_RNA	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	381					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GGAGCAGGGGGCTCTTTTAGC	0.502																																																0													111	104	107					7																	141352597		2203	4300	6503	SO:0001583	missense	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.1142G>C	chr7.hg19:g.141352597G>C	ENSP00000347581:p.Gly381Ala		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	hg19	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331077	0.81690	.	.	ENSG00000006530	ENST00000355413;ENST00000473247	T;T	0.12984	2.63;2.63	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	L	0.49126	1.545	0.80722	D	1	P	0.37663	0.604	B	0.32533	0.147	T	0.01848	-1.1261	10	0.72032	D	0.01	.	19.2669	0.93990	0.0:0.0:1.0:0.0	.	381	Q53H12	AGK_HUMAN	A	381;353	ENSP00000347581:G381A;ENSP00000420776:G353A	ENSP00000347581:G381A	G	+	2	0	AGK	140999066	1.000000	0.71417	0.986000	0.45419	0.515000	0.34225	8.920000	0.92779	2.549000	0.85964	0.655000	0.94253	GGC		0.502	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		C	141352597	G	C	141352597	3	2	82	1	0	0	0	0	1	0	0	0	383	1203	42	4	1200	4	AGK	7	141352597	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	135785124	141352597	17786066	23	5519											
C8orf80	389643	hgsc.bcm.edu	37	8	27913490	27913490	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr8:27913490T>G	ENST00000413272.2	-	10	1340	c.1198A>C	c.(1198-1200)Aaa>Caa	p.K400Q	NUGGC_ENST00000341513.6_Missense_Mutation_p.K400Q	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	400					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										ACCTTCAGTTTTTCCTTGAGA	0.373																																																0													94	88	89					8																	27913490		1840	4086	5926	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1198A>C	chr8.hg19:g.27913490T>G	ENSP00000408697:p.Lys400Gln		Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	hg19	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739734	0.69304	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.15952	2.38;2.38	5.37	5.37	0.77165	.	0.192094	0.43919	D	0.000520	T	0.14485	0.0350	L	0.32530	0.975	0.37961	D	0.932984	P	0.47350	0.894	B	0.40444	0.329	T	0.05517	-1.0880	10	0.66056	D	0.02	-18.4502	11.7885	0.52055	0.0:0.0:0.0:1.0	.	400	Q68CJ6	SLIP_HUMAN	Q	400	ENSP00000408697:K400Q;ENSP00000345031:K400Q	ENSP00000345031:K400Q	K	-	1	0	C8orf80	27969409	0.999000	0.42202	0.999000	0.59377	0.985000	0.73830	2.663000	0.46774	2.030000	0.59900	0.455000	0.32223	AAA		0.373	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		G	27913490	T	G	27913490	3	3	82	1	0	0	0	0	1	0	0	0	2441	1850	64	5	1232	5	C8orf80	8	27913490	Missense_Mutation	SNP	T	TCGA-A4-A4ZT-01A-11D-A26P-10		27913490	118450532	24	5520	52	2									
C8orf80	389643	hgsc.bcm.edu	37	8	27913492	27913492	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr8:27913492T>C	ENST00000413272.2	-	10	1338	c.1196A>G	c.(1195-1197)gAa>gGa	p.E399G	NUGGC_ENST00000341513.6_Missense_Mutation_p.E399G	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	399					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CTTCAGTTTTTCCTTGAGAAT	0.368																																																0													93	87	88					8																	27913492		1839	4084	5923	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1196A>G	chr8.hg19:g.27913492T>C	ENSP00000408697:p.Glu399Gly		Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	hg19	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686312	0.47991	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.17054	2.3;2.32	5.37	4.2	0.49525	.	0.367956	0.29205	N	0.012835	T	0.12178	0.0296	L	0.32530	0.975	0.35309	D	0.783741	B	0.32245	0.361	B	0.25140	0.058	T	0.14952	-1.0454	10	0.59425	D	0.04	-7.5105	9.3405	0.38076	0.0:0.0:0.1808:0.8192	.	399	Q68CJ6	SLIP_HUMAN	G	399	ENSP00000408697:E399G;ENSP00000345031:E399G	ENSP00000345031:E399G	E	-	2	0	C8orf80	27969411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.756000	0.38390	0.851000	0.35264	0.455000	0.32223	GAA		0.368	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		C	27913492	T	C	27913492	3	2	82	1	0	0	0	0	1	0	0	0	2441	1783	62	3	1234	3	C8orf80	8	27913492	Missense_Mutation	SNP	T	TCGA-A4-A4ZT-01A-11D-A26P-10	2	27913492	118450530	25	5521	52	2									
NUP188	23511	hgsc.bcm.edu	37	9	131735460	131735460	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr9:131735460A>G	ENST00000372577.2	+	12	1156	c.1135A>G	c.(1135-1137)Atg>Gtg	p.M379V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	379					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CACTGCATGCATGTGTGTCTA	0.493																																																0													166	127	140					9																	131735460		2203	4300	6503	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1135A>G	chr9.hg19:g.131735460A>G	ENSP00000361658:p.Met379Val		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	hg19	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.706341	0.30232	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.64618	-0.11	5.01	5.01	0.66863	.	0.175989	0.64402	D	0.000006	T	0.44623	0.1302	N	0.19112	0.55	0.40933	D	0.984408	B	0.11235	0.004	B	0.09377	0.004	T	0.39143	-0.9628	10	0.34782	T	0.22	0.8656	9.6632	0.39967	0.8449:0.0:0.0:0.1551	.	379	Q5SRE5	NU188_HUMAN	V	268;379	ENSP00000361658:M379V	ENSP00000349125:M268V	M	+	1	0	NUP188	130775281	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.448000	0.52943	2.014000	0.59158	0.451000	0.29950	ATG		0.493	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			G	131735460	A	G	131735460	3	3	82	1	0	0	0	0	1	0	0	0	10760	217	8	3	1181	3	NUP188	9	131735460	Missense_Mutation	SNP	A	TCGA-A4-A4ZT-01A-11D-A26P-10		131735460	9477971	26	5522											
ANK3	288	hgsc.bcm.edu	37	10	61832051	61832054	+	Frame_Shift_Del	DEL	TTGT	TTGT	-	rs371964932		TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	TTGT	TTGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr10:61832051_61832054delTTGT	ENST00000280772.2	-	37	8776_8779	c.8585_8588delACAA	c.(8584-8589)aacaatfs	p.NN2862fs	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2862					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGAGACTTATTGTTAGTGGCTCC	0.402																																																0																																										SO:0001589	frameshift_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8585_8588delACAA	chr10.hg19:g.61832051_61832054delTTGT	ENSP00000280772:p.Asn2862fs		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	hg19	CCDS7258.1																																																																																				0.402	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		-	61832054	TTGT	-	61832051	7	5	82	1	0	1	0	1	0	0	0	0	622	1493	52	0	4886	0	ANK3	10	61832051	Frame_Shift_Del	DEL	TTGT	TCGA-A4-A4ZT-01A-11D-A26P-10		61832051	73702696	27	5523	53	3									
ANK3	288	hgsc.bcm.edu	37	10	61832052	61832061	+	Frame_Shift_Del	DEL	TGTTAGTGGC	TGTTAGTGGC	-			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	TGTTAGTGGC	TGTTAGTGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr10:61832052_61832061delTGTTAGTGGC	ENST00000280772.2	-	37	8769_8778	c.8578_8587delGCCACTAACA	c.(8578-8589)gccactaacaatfs	p.ATNN2860fs	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2860					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAGACTTATTGTTAGTGGCTCCCGAACTC	0.41																																																0																																										SO:0001589	frameshift_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8578_8587delGCCACTAACA	chr10.hg19:g.61832052_61832061delTGTTAGTGGC	ENSP00000280772:p.Ala2860fs		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	hg19	CCDS7258.1																																																																																				0.41	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		-	61832061	TGTTAGTGGC	-	61832052	7	5	82	1	0	1	0	1	0	0	0	0	622	1812	63	0	4887	0	ANK3	10	61832052	Frame_Shift_Del	DEL	TGTTAGTGGC	TCGA-A4-A4ZT-01A-11D-A26P-10	1	61832052	73702695	28	5524	53	3									
ANK3	288	hgsc.bcm.edu	37	10	61832057	61832061	+	Frame_Shift_Del	DEL	GTGGC	GTGGC	-			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	GTGGC	GTGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr10:61832057_61832061delGTGGC	ENST00000280772.2	-	37	8769_8773	c.8578_8582delGCCAC	c.(8578-8583)gccactfs	p.AT2860fs	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2860					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTATTGTTAGTGGCTCCCGAACTC	0.415																																																0																																										SO:0001589	frameshift_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8578_8582delGCCAC	chr10.hg19:g.61832057_61832061delGTGGC	ENSP00000280772:p.Ala2860fs		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	hg19	CCDS7258.1																																																																																				0.415	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		-	61832061	GTGGC	-	61832057	7	5	82	1	0	1	0	1	0	0	0	0	622	1029	36	0	4892	0	ANK3	10	61832057	Frame_Shift_Del	DEL	GTGGC	TCGA-A4-A4ZT-01A-11D-A26P-10	5	61832057	73702690	29	5525	53	3									
AIFM2	84883	hgsc.bcm.edu	37	10	71874678	71874678	+	Missense_Mutation	SNP	G	G	A	rs376374471		TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr10:71874678G>A	ENST00000307864.1	-	8	1181	c.968C>T	c.(967-969)cCg>cTg	p.P323L	AIFM2_ENST00000373248.1_Missense_Mutation_p.P323L|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	323					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TCTCTTACCCGGCTTGTAGGC	0.547																																																0								G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	29	30	30		968,968	5.8	1	10		30	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	AIFM2	NM_001198696.1,NM_032797.5	98,98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	323/374,323/374	71874678	2,13004	2203	4300	6503	SO:0001583	missense	84883			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.968C>T	chr10.hg19:g.71874678G>A	ENSP00000312370:p.Pro323Leu		B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	hg19	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594868	0.66219	0.0	2.33E-4	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.35421	1.31;1.31	5.8	5.8	0.92144	.	0.052232	0.85682	D	0.000000	T	0.32255	0.0823	M	0.64567	1.98	0.80722	D	1	P	0.39748	0.686	B	0.29598	0.104	T	0.17077	-1.0381	10	0.12766	T	0.61	-6.747	17.8576	0.88771	0.0:0.0:1.0:0.0	.	323	Q9BRQ8	AIFM2_HUMAN	L	323;323;286	ENSP00000362345:P323L;ENSP00000312370:P323L	ENSP00000312370:P323L	P	-	2	0	AIFM2	71544684	1.000000	0.71417	0.996000	0.52242	0.199000	0.23934	8.579000	0.90781	2.758000	0.94735	0.563000	0.77884	CCG		0.547	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		A	71874678	G	A	71874678	3	1	82	1	0	0	0	0	1	0	0	0	427	1116	39	1	161	1	AIFM2	10	71874678	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	10042621	71874678	63660069	30	5526											
ZMYND17	118490	hgsc.bcm.edu	37	10	75185695	75185695	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr10:75185695delT	ENST00000372912.1	-	4	945	c.943delA	c.(943-945)actfs	p.T315fs	MSS51_ENST00000299432.2_Frame_Shift_Del_p.T315fs|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	315					social behavior (GO:0035176)		metal ion binding (GO:0046872)										AGGGGTGAAGTTGAGGTGCTC	0.542																																																0													85	75	78					10																	75185695		2203	4300	6503	SO:0001589	frameshift_variant	118490			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"Zinc fingers, MYND-type"	21000	protein-coding gene	gene with protein product		614773	"zinc finger, MYND-type containing 17", "MSS51 mitochondrial translational activator homolog (S. cerevisiae)"	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.943delA	chr10.hg19:g.75185695delT	ENSP00000362003:p.Thr315fs		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Frame_Shift_Del	DEL	ENST00000372912.1	hg19	CCDS31221.1																																																																																				0.542	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		-	75185695	T	-	75185695	7	5	82	1	0	1	0	1	0	0	0	0	17714	1725	60	0	451	0	ZMYND17	10	75185695	Frame_Shift_Del	DEL	T	TCGA-A4-A4ZT-01A-11D-A26P-10	3311017	75185695	60349052	31	5527											
FERMT3	83706	hgsc.bcm.edu	37	11	63990576	63990576	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr11:63990576G>T	ENST00000279227.5	+	14	1834	c.1739G>T	c.(1738-1740)cGc>cTc	p.R580L	FERMT3_ENST00000345728.5_Missense_Mutation_p.R576L|TRPT1_ENST00000540472.1_5'Flank	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	580					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGACTGATCCGCATCGACTTG	0.622																																																0													109	83	92					11																	63990576		2201	4296	6497	SO:0001583	missense	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1739G>T	chr11.hg19:g.63990576G>T	ENSP00000279227:p.Arg580Leu		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	hg19	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437985	0.96168	.	.	ENSG00000149781	ENST00000345728;ENST00000279227;ENST00000545896	T;T;T	0.73575	-0.76;-0.76;-0.76	5.19	5.19	0.71726	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	D	0.87510	0.2439	10	0.52906	T	0.07	-23.8856	17.8551	0.88760	0.0:0.0:1.0:0.0	.	576;580	Q86UX7-2;Q86UX7	.;URP2_HUMAN	L	576;580;97	ENSP00000339950:R576L;ENSP00000279227:R580L;ENSP00000440209:R97L	ENSP00000279227:R580L	R	+	2	0	FERMT3	63747152	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.411000	0.97342	2.591000	0.87537	0.561000	0.74099	CGC		0.622	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		T	63990576	G	T	63990576	3	4	82	1	0	0	0	0	1	0	0	0	5821	1087	38	4	1789	4	FERMT3	11	63990576	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10		63990576	71015940	32	5528											
C11orf53	341032	hgsc.bcm.edu	37	11	111154999	111154999	+	Missense_Mutation	SNP	G	G	A	rs146857088		TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr11:111154999G>A	ENST00000280325.4	+	3	353	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	69										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GGAGACTACCGGCCTCCGGCG	0.692																																																0								G	GLN/ARG	0,4402		0,0,2201	41	48	45		206	4.7	1	11	dbSNP_134	45	1,8593	1.2+/-3.3	0,1,4296	no	missense	C11orf53	NM_198498.1	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	69/237	111154999	1,12995	2201	4297	6498	SO:0001583	missense	341032			BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.206G>A	chr11.hg19:g.111154999G>A	ENSP00000280325:p.Arg69Gln			Missense_Mutation	SNP	ENST00000280325.4	hg19	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293090	0.80914	0.0	1.16E-4	ENSG00000150750	ENST00000280325	.	.	.	5.66	4.74	0.60224	.	0.057619	0.64402	D	0.000001	T	0.75012	0.3792	M	0.72894	2.215	0.47621	D	0.999472	D	0.89917	1.0	D	0.66497	0.944	T	0.75929	-0.3144	9	0.52906	T	0.07	-34.9344	12.7742	0.57437	0.0795:0.0:0.9205:0.0	.	69	Q8IXP5	CK053_HUMAN	Q	69	.	ENSP00000280325:R69Q	R	+	2	0	C11orf53	110660209	1.000000	0.71417	0.994000	0.49952	0.114000	0.19823	5.606000	0.67641	2.677000	0.91161	0.591000	0.81541	CGG		0.692	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		A	111154999	G	A	111154999	3	1	82	1	0	0	0	0	1	0	0	0	1650	1116	39	1	212	1	C11orf53	11	111154999	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	47164423	111154999	23851517	33	5529											
TIMELESS	8914	hgsc.bcm.edu	37	12	56814422	56814422	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr12:56814422T>G	ENST00000553532.1	-	26	3309	c.3159A>C	c.(3157-3159)gaA>gaC	p.E1053D	TIMELESS_ENST00000554616.1_Missense_Mutation_p.E550D|TIMELESS_ENST00000229201.4_Missense_Mutation_p.E1052D					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTTCCATGGCTTCCTCATTTT	0.507																																																0													133	109	117					12																	56814422		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3159A>C	chr12.hg19:g.56814422T>G	ENSP00000450607:p.Glu1053Asp			Missense_Mutation	SNP	ENST00000553532.1	hg19	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	9.732	1.162558	0.21538	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.15487	2.42;2.42;2.42	5.34	2.91	0.33838	Timeless C-terminal (1);	0.056591	0.64402	D	0.000002	T	0.11024	0.0269	L	0.41961	1.31	0.23589	N	0.99734	B	0.09022	0.002	B	0.14578	0.011	T	0.21348	-1.0248	10	0.15066	T	0.55	-17.0728	4.1508	0.10237	0.3164:0.094:0.0:0.5895	.	1053	Q9UNS1	TIM_HUMAN	D	1052;1053;550	ENSP00000229201:E1052D;ENSP00000450607:E1053D;ENSP00000450848:E550D	ENSP00000229201:E1053D	E	-	3	2	TIMELESS	55100689	0.994000	0.37717	1.000000	0.80357	0.959000	0.62525	0.126000	0.15769	2.150000	0.67090	0.459000	0.35465	GAA		0.507	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		G	56814422	T	G	56814422	3	3	82	1	0	0	0	0	1	0	0	0	15909	1606	56	5	483	5	TIMELESS	12	56814422	Missense_Mutation	SNP	T	TCGA-A4-A4ZT-01A-11D-A26P-10		56814422	77037473	34	5530											
SLC6A15	55117	hgsc.bcm.edu	37	12	85279278	85279278	+	Silent	SNP	A	A	G			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr12:85279278A>G	ENST00000266682.5	-	4	1051	c.510T>C	c.(508-510)tcT>tcC	p.S170S	SLC6A15_ENST00000450363.3_Silent_p.S170S|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Silent_p.S63S	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	170					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAAAAGACTGAGAAAAATAAA	0.368																																																0													95	94	94					12																	85279278		2203	4300	6503	SO:0001819	synonymous_variant	55117			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.510T>C	chr12.hg19:g.85279278A>G			A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Silent	SNP	ENST00000266682.5	hg19	CCDS9026.1																																																																																				0.368	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		G	85279278	A	G	85279278	2	3	82	1	0	0	0	0	0	0	0	1	14684	291	11	3		3	SLC6A15	12	85279278	Silent	SNP	A	TCGA-A4-A4ZT-01A-11D-A26P-10	28464856	85279278	48572617	35	5531											
KIAA0564	23078	hgsc.bcm.edu	37	13	42185853	42185853	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr13:42185853G>C	ENST00000379310.3	-	39	4804	c.4736C>G	c.(4735-4737)gCa>gGa	p.A1579G		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1579						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ACCCAGGCCTGCCGTGTCTCT	0.522																																																0													53	56	55					13																	42185853		1917	4129	6046	SO:0001583	missense	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4736C>G	chr13.hg19:g.42185853G>C	ENSP00000368612:p.Ala1579Gly		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	hg19	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015419	0.93404	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.16457	2.34	5.95	5.95	0.96441	.	0.110644	0.64402	D	0.000012	T	0.46521	0.1397	M	0.87180	2.865	0.80722	D	1	D	0.67145	0.996	P	0.58266	0.836	T	0.50931	-0.8769	10	0.87932	D	0	.	19.9739	0.97296	0.0:0.0:1.0:0.0	.	1579	A3KMH1	K0564_HUMAN	G	1483;1579	ENSP00000368612:A1579G	ENSP00000251030:A1483G	A	-	2	0	KIAA0564	41083853	1.000000	0.71417	0.920000	0.36463	0.903000	0.53119	9.577000	0.98196	2.826000	0.97356	0.563000	0.77884	GCA		0.522	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		C	42185853	G	C	42185853	3	2	82	1	0	0	0	0	1	0	0	0	8187	1319	46	4	1009	4	KIAA0564	13	42185853	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10		42185853	72984025	36	5532											
TUBGCP3	10426	hgsc.bcm.edu	37	13	113140459	113140459	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr13:113140459C>G	ENST00000261965.3	-	22	2758	c.2572G>C	c.(2572-2574)Gtg>Ctg	p.V858L		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	858					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AACTGCTGCACGATACCCTAA	0.458																																																0													26	24	25					13																	113140459		2203	4297	6500	SO:0001583	missense	10426			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2572G>C	chr13.hg19:g.113140459C>G	ENSP00000261965:p.Val858Leu		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	hg19	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786517	0.31593	.	.	ENSG00000126216	ENST00000261965	T	0.21932	1.98	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	L	0.58669	1.825	0.80722	D	1	P;P	0.45827	0.867;0.732	B;B	0.41946	0.371;0.371	T	0.08166	-1.0735	10	0.07990	T	0.79	-24.5804	17.6998	0.88291	0.0:1.0:0.0:0.0	.	848;858	B4DYP7;Q96CW5	.;GCP3_HUMAN	L	858	ENSP00000261965:V858L	ENSP00000261965:V858L	V	-	1	0	TUBGCP3	112188460	1.000000	0.71417	0.894000	0.35097	0.023000	0.10783	7.085000	0.76875	2.216000	0.71823	0.655000	0.94253	GTG		0.458	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		G	113140459	C	G	113140459	3	3	82	1	0	0	0	0	1	0	0	0	16772	536	19	4	155	4	TUBGCP3	13	113140459	Missense_Mutation	SNP	C	TCGA-A4-A4ZT-01A-11D-A26P-10	70954606	113140459	2029419	37	5533											
SMG1	23049	hgsc.bcm.edu	37	16	18849889	18849889	+	Silent	SNP	A	A	G			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr16:18849889A>G	ENST00000446231.2	-	43	7480	c.7068T>C	c.(7066-7068)aaT>aaC	p.N2356N	SMG1_ENST00000389467.3_Silent_p.N2356N			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2356	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAAAGCAAACATTGTAATCTA	0.328																																																0													147	136	139					16																	18849889		1828	4078	5906	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7068T>C	chr16.hg19:g.18849889A>G			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	hg19	CCDS45430.1																																																																																				0.328	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		G	18849889	A	G	18849889	2	3	82	1	0	0	0	0	0	0	0	1	14801	214	8	3		3	SMG1	16	18849889	Silent	SNP	A	TCGA-A4-A4ZT-01A-11D-A26P-10		18849889	71504864	38	5534											
CCDC113	29070	hgsc.bcm.edu	37	16	58292369	58292370	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr16:58292369_58292370GG>CT	ENST00000219299.4	+	4	567_568	c.488_489GG>CT	c.(487-489)gGG>gCT	p.G163A	CCDC113_ENST00000443128.2_Missense_Mutation_p.G109A	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	163						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AAGAAGAAAGGGAGTATTTTGG	0.416																																																0																																										SO:0001583	missense	29070			AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	Exception_encountered	chr16.hg19:g.58292369_58292370delinsCT	ENSP00000219299:p.Gly163Ala		B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation|Silent	SNP	ENST00000219299.4	hg19	CCDS10795.1																																																																																				0.416	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		CT	58292370	GG	CT	58292369	3	2	82	1	0	0	0	0	1	0	0	0	2752	1232	43	4	502	4	CCDC113	16	58292369	Missense_Mutation	DNP	GG	TCGA-A4-A4ZT-01A-11D-A26P-10	39442480	58292369	32062384	39	5535											
CAMTA2	23125	hgsc.bcm.edu	37	17	4872081	4872081	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr17:4872081T>A	ENST00000348066.3	-	23	3702	c.3579A>T	c.(3577-3579)gaA>gaT	p.E1193D	CAMTA2_ENST00000414043.3_Missense_Mutation_p.R1216W|SPAG7_ENST00000573366.1_5'Flank|CAMTA2_ENST00000572543.1_Missense_Mutation_p.E1198D|SPAG7_ENST00000575142.1_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|SPAG7_ENST00000206020.3_5'Flank|SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000361571.5_Missense_Mutation_p.E1192D|CAMTA2_ENST00000358183.4_Missense_Mutation_p.E1186D|CAMTA2_ENST00000381311.5_Missense_Mutation_p.E1188D	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1193					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGGAAGCCCTTCCAGCTCCT	0.612																																																0													51	56	55					17																	4872081		2203	4300	6503	SO:0001583	missense	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3579A>T	chr17.hg19:g.4872081T>A	ENSP00000321813:p.Glu1193Asp		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	hg19	CCDS11063.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.044334|4.044334	0.75732|0.75732	.|.	.|.	ENSG00000108509|ENSG00000108509	ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066|ENST00000414043	T;T;T;T|T	0.40756|0.13538	1.4;1.02;1.4;1.05|2.58	4.7|4.7	-0.79|-0.79	0.10932|0.10932	.|.	0.542415|.	0.14944|.	N|.	0.289350|.	T|T	0.06508|0.06508	0.0167|0.0167	L|L	0.27053|0.27053	0.805|0.805	0.24084|0.24084	N|N	0.995937|0.995937	D;P;D|P	0.56035|0.41643	0.974;0.956;0.974|0.758	D;D;D|B	0.70487|0.30251	0.969;0.931;0.953|0.113	T|T	0.30238|0.30238	-0.9985|-0.9985	10|9	0.62326|0.87932	D|D	0.03|0	0.022|0.022	3.8552|3.8552	0.08973|0.08973	0.0:0.2518:0.4031:0.3451|0.0:0.2518:0.4031:0.3451	.|.	1188;1193;1192|1216	O94983-3;O94983;O94983-4|E7EWU5	.;CMTA2_HUMAN;.|.	D|W	1188;1192;1186;1193|1216	ENSP00000370712:E1188D;ENSP00000354828:E1192D;ENSP00000350910:E1186D;ENSP00000321813:E1193D|ENSP00000412886:R1216W	ENSP00000321813:E1193D|ENSP00000412886:R1216W	E|R	-|-	3|1	2|2	CAMTA2|CAMTA2	4812805|4812805	0.276000|0.276000	0.24211|0.24211	0.999000|0.999000	0.59377|0.59377	0.928000|0.928000	0.56348|0.56348	0.041000|0.041000	0.13927|0.13927	0.162000|0.162000	0.19483|0.19483	0.460000|0.460000	0.39030|0.39030	GAA|AGG		0.612	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		A	4872081	T	A	4872081	3	1	82	1	0	0	0	0	1	0	0	0	2616	1609	56	5	83	5	CAMTA2	17	4872081	Missense_Mutation	SNP	T	TCGA-A4-A4ZT-01A-11D-A26P-10		4872081	76323129	40	5536											
SSH2	85464	hgsc.bcm.edu	37	17	27958364	27958364	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr17:27958364C>T	ENST00000269033.3	-	15	3918	c.3767G>A	c.(3766-3768)cGc>cAc	p.R1256H	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R1283H	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1256					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGAAGCTGAGCGCCTCATTTG	0.532																																																0													103	102	102					17																	27958364		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3767G>A	chr17.hg19:g.27958364C>T	ENSP00000269033:p.Arg1256His		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	hg19	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991842	0.54041	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.45668	0.89;0.89	6.17	5.19	0.71726	.	0.253540	0.39407	N	0.001375	T	0.34337	0.0894	L	0.39397	1.21	0.80722	D	1	P;B	0.35192	0.489;0.357	B;B	0.29663	0.105;0.048	T	0.17592	-1.0364	10	0.54805	T	0.06	-7.483	14.755	0.69557	0.0:0.9289:0.0:0.0711	.	1283;1256	F5H527;Q76I76	.;SSH2_HUMAN	H	1256;1283	ENSP00000269033:R1256H;ENSP00000444743:R1283H	ENSP00000269033:R1256H	R	-	2	0	SSH2	24982490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.058000	0.57463	1.560000	0.49568	0.655000	0.94253	CGC		0.532	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		T	27958364	C	T	27958364	3	4	82	1	0	0	0	0	1	0	0	0	15190	768	27	1	508	1	SSH2	17	27958364	Missense_Mutation	SNP	C	TCGA-A4-A4ZT-01A-11D-A26P-10	23086283	27958364	53236846	41	5537											
SLFN13	146857	hgsc.bcm.edu	37	17	33772567	33772567	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr17:33772567T>C	ENST00000285013.6	-	3	408	c.133A>G	c.(133-135)Aga>Gga	p.R45G	SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.R45G|SLFN13_ENST00000526861.1_Missense_Mutation_p.R45G|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.R45G	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	45						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CGTATAACTCTCGCCCTCTCT	0.498																																																0													108	111	110					17																	33772567		2203	4300	6503	SO:0001583	missense	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.133A>G	chr17.hg19:g.33772567T>C	ENSP00000285013:p.Arg45Gly		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	hg19	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.611668	0.28712	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635;ENST00000524511	T;T;T;T	0.23950	4.48;4.48;4.48;1.88	3.28	3.28	0.37604	.	0.641780	0.12846	U	0.434341	T	0.22820	0.0551	M	0.62723	1.935	0.09310	N	1	B	0.33694	0.421	B	0.24006	0.05	T	0.13202	-1.0518	10	0.46703	T	0.11	.	8.1521	0.31148	0.0:0.0:0.0:1.0	.	45	Q68D06	SLN13_HUMAN	G	45	ENSP00000285013:R45G;ENSP00000434439:R45G;ENSP00000444016:R45G;ENSP00000433181:R45G	ENSP00000285013:R45G	R	-	1	2	SLFN13	30796680	0.001000	0.12720	0.000000	0.03702	0.122000	0.20287	1.012000	0.29924	1.481000	0.48307	0.172000	0.16884	AGA		0.498	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		C	33772567	T	C	33772567	3	2	82	1	0	0	0	0	1	0	0	0	14742	1559	54	3	2576	3	SLFN13	17	33772567	Missense_Mutation	SNP	T	TCGA-A4-A4ZT-01A-11D-A26P-10	5814203	33772567	47422643	42	5538											
LASP1	3927	hgsc.bcm.edu	37	17	37070728	37070728	+	Splice_Site	SNP	G	G	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr17:37070728G>A	ENST00000318008.6	+	5	839	c.508G>A	c.(508-510)Gtt>Att	p.V170I	LASP1_ENST00000433206.2_Splice_Site_p.V114I|LASP1_ENST00000435347.3_Splice_Site_p.V170I	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	170					ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CAGTGCCCCGGGTGAGTGCAG	0.657			T	MLL	AML																																		Dom	yes		17	17q11-q21.3	3927	LIM and SH3 protein 1		L	0													24	30	28					17																	37070728		2202	4299	6501	SO:0001630	splice_region_variant	3927				CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.508+1G>A	chr17.hg19:g.37070728G>A			B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	ENST00000318008.6	hg19	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080367	0.76528	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347;ENST00000419929	T;T;T;T	0.39997	1.17;1.05;1.17;2.67	5.24	5.24	0.73138	.	0.969776	0.08459	N	0.942649	T	0.33411	0.0862	N	0.24115	0.695	0.41878	D	0.990301	B;B	0.32302	0.363;0.018	B;B	0.24701	0.055;0.016	T	0.11397	-1.0589	10	0.31617	T	0.26	.	17.3957	0.87444	0.0:0.0:1.0:0.0	.	114;170	B4DGQ0;Q14847	.;LASP1_HUMAN	I	170;114;170;134	ENSP00000325240:V170I;ENSP00000401048:V114I;ENSP00000392853:V170I;ENSP00000391897:V134I	ENSP00000325240:V170I	V	+	1	0	LASP1	34324254	1.000000	0.71417	0.713000	0.30519	0.712000	0.41017	4.856000	0.62932	2.431000	0.82371	0.563000	0.77884	GTT		0.657	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148	Missense_Mutation	A	37070728	G	A	37070728	5	1	82	1	0	0	0	0	0	0	1	0	8639	1246	43	2	526	2	LASP1	17	37070728	Splice_Site	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	3298161	37070728	44124482	43	5539											
KRT13	3860	hgsc.bcm.edu	37	17	39661375	39661375	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr17:39661375T>A	ENST00000246635.3	-	1	474	c.428A>T	c.(427-429)cAg>cTg	p.Q143L	KRT13_ENST00000587544.1_Missense_Mutation_p.Q143L|KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Missense_Mutation_p.Q143L	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	143	Linker 1.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				AGCTGGGCTCTGCTTCAGGTG	0.617																																																0													112	104	107					17																	39661375		2203	4300	6503	SO:0001583	missense	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.428A>T	chr17.hg19:g.39661375T>A	ENSP00000246635:p.Gln143Leu		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	hg19	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.448953	0.43531	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.89196	-2.48;-2.48	4.9	4.9	0.64082	Filament (1);	0.152962	0.30244	N	0.010071	D	0.94663	0.8279	M	0.87381	2.88	0.35788	D	0.822162	D;D;D;D	0.67145	0.979;0.996;0.989;0.996	P;D;D;D	0.71870	0.905;0.975;0.925;0.975	D	0.97698	1.0183	10	0.62326	D	0.03	.	14.6956	0.69118	0.0:0.0:0.0:1.0	.	131;143;143;143	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	L	143;143;131	ENSP00000246635:Q143L;ENSP00000336604:Q143L	ENSP00000157775:Q131L	Q	-	2	0	KRT13	36914901	0.975000	0.34042	0.999000	0.59377	0.052000	0.14988	3.295000	0.51794	2.073000	0.62155	0.533000	0.62120	CAG		0.617	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		A	39661375	T	A	39661375	3	1	82	1	0	0	0	0	1	0	0	0	8452	1580	55	5	980	5	KRT13	17	39661375	Missense_Mutation	SNP	T	TCGA-A4-A4ZT-01A-11D-A26P-10	2590647	39661375	41533835	44	5540											
CDC27	996	hgsc.bcm.edu	37	17	45214536	45214536	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr17:45214536G>T	ENST00000066544.3	-	14	1988	c.1895C>A	c.(1894-1896)cCt>cAt	p.P632H	CDC27_ENST00000531206.1_Missense_Mutation_p.P638H|CDC27_ENST00000446365.2_Missense_Mutation_p.P571H|CDC27_ENST00000527547.1_Missense_Mutation_p.P631H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	632					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ATAATGTCTAGGATTGACTCT	0.343																																																0													41	42	41					17																	45214536		2203	4300	6503	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1895C>A	chr17.hg19:g.45214536G>T	ENSP00000066544:p.Pro632His		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	hg19	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959466	0.74016	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.266487	0.44688	D	0.000430	D	0.84538	0.5494	M	0.86097	2.795	0.53688	D	0.999971	D;D;D;D	0.65815	0.995;0.991;0.984;0.972	P;P;P;P	0.60117	0.859;0.869;0.779;0.812	D	0.86146	0.1584	10	0.72032	D	0.01	-10.2431	17.9304	0.88994	0.0:0.0:1.0:0.0	.	571;631;638;632	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	H	632;638;571;631	ENSP00000066544:P632H;ENSP00000434614:P638H;ENSP00000392802:P571H;ENSP00000437339:P631H	ENSP00000066544:P632H	P	-	2	0	CDC27	42569535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.347000	0.59373	2.843000	0.97960	0.585000	0.79938	CCT		0.343	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45214536	G	T	45214536	3	4	82	1	0	0	0	0	1	0	0	0	3068	1000	35	4	603	4	CDC27	17	45214536	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	5553161	45214536	35980674	45	5541											
SCRN2	90507	hgsc.bcm.edu	37	17	45918192	45918192	+	Silent	SNP	A	A	G			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr17:45918192A>G	ENST00000290216.9	-	2	143	c.18T>C	c.(16-18)ccT>ccC	p.P6P	SCRN2_ENST00000584123.1_Silent_p.P14P|SCRN2_ENST00000407215.3_Silent_p.P6P	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	6						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						ATGGGGAGTCAGGGCTCGACG	0.662																																																0													25	31	29					17																	45918192		2203	4299	6502	SO:0001819	synonymous_variant	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.18T>C	chr17.hg19:g.45918192A>G			A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	ENST00000290216.9	hg19	CCDS11519.1																																																																																				0.662	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		G	45918192	A	G	45918192	2	3	82	1	0	0	0	0	0	0	0	1	13945	175	7	3		3	SCRN2	17	45918192	Silent	SNP	A	TCGA-A4-A4ZT-01A-11D-A26P-10	703656	45918192	35277018	46	5542											
PPM1E	22843	hgsc.bcm.edu	37	17	56833454	56833454	+	Silent	SNP	G	G	A	rs77856248		TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr17:56833454G>A	ENST00000308249.2	+	1	225	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			Gcgagccggagccggaacccg	0.667																																																0													14	20	18					17																	56833454		2185	4284	6469	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.96G>A	chr17.hg19:g.56833454G>A			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.667	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		A	56833454	G	A	56833454	2	1	82	1	0	0	0	0	0	0	0	1	12343	962	34	2		2	PPM1E	17	56833454	Silent	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	10915262	56833454	24361756	47	5543	54	2									
PPM1E	22843	hgsc.bcm.edu	37	17	56833457	56833457	+	Silent	SNP	G	G	C	rs3834568|rs201186780|rs74256772	byFrequency	TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr17:56833457G>C	ENST00000308249.2	+	1	228	c.99G>C	c.(97-99)ccG>ccC	p.P33P		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaac	0.672																																																0													14	20	18					17																	56833457		2188	4284	6472	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.99G>C	chr17.hg19:g.56833457G>C			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.672	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		C	56833457	G	C	56833457	2	2	82	1	0	0	0	0	0	0	0	1	12343	1103	39	4		4	PPM1E	17	56833457	Silent	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	3	56833457	24361753	48	5544	54	2									
AP3D1	8943	hgsc.bcm.edu	37	19	2130440	2130440	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr19:2130440G>A	ENST00000345016.5	-	6	790	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	AP3D1_ENST00000355272.6_Missense_Mutation_p.R187W|AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000356926.4_Intron	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	187					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTCAGCCGGGGAAAGGCA	0.597																																																0													90	101	97					19																	2130440		2034	4183	6217	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.559C>T	chr19.hg19:g.2130440G>A	ENSP00000344055:p.Arg187Trp		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	hg19	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333240	0.81801	.	.	ENSG00000065000	ENST00000345016;ENST00000355272;ENST00000343722	T;T	0.28255	1.62;1.62	4.61	4.61	0.57282	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.95;0.989	T	0.76187	-0.3051	10	0.87932	D	0	-30.4076	16.444	0.83910	0.0:0.0:1.0:0.0	.	187;187	O14617-5;O14617	.;AP3D1_HUMAN	W	187	ENSP00000344055:R187W;ENSP00000347416:R187W	ENSP00000341579:R187W	R	-	1	2	AP3D1	2081440	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	6.998000	0.76277	2.116000	0.64780	0.542000	0.68232	CGG		0.597	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			A	2130440	G	A	2130440	3	1	82	1	0	0	0	0	1	0	0	0	746	1115	39	1	3160	1	AP3D1	19	2130440	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10		2130440	56998543	49	5545											
ZNF564	163050	hgsc.bcm.edu	37	19	12639471	12639471	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr19:12639471G>T	ENST00000339282.7	-	2	239	c.43C>A	c.(43-45)Ctt>Att	p.L15I	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CACTCCTCAAGTGTGAAGTTC	0.468																																																0													91	92	91					19																	12639471		2203	4300	6503	SO:0001583	missense	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.43C>A	chr19.hg19:g.12639471G>T	ENSP00000340004:p.Leu15Ile		B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	hg19	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387425	0.25031	.	.	ENSG00000249709	ENST00000339282	T	0.01838	4.61	1.99	0.862	0.19056	Krueppel-associated box (4);	.	.	.	.	T	0.04724	0.0128	M	0.84683	2.71	0.20926	N	0.999823	B	0.29909	0.261	B	0.33196	0.159	T	0.28235	-1.0050	9	0.52906	T	0.07	.	4.2715	0.10789	0.0:0.2591:0.4772:0.2636	.	15	Q8TBZ8	ZN564_HUMAN	I	15	ENSP00000340004:L15I	ENSP00000340004:L15I	L	-	1	0	ZNF564	12500471	0.000000	0.05858	0.452000	0.26994	0.655000	0.38815	-0.253000	0.08794	0.174000	0.19809	0.442000	0.29010	CTT		0.468	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		T	12639471	G	T	12639471	3	4	82	1	0	0	0	0	1	0	0	0	18000	1029	36	4	1630	4	ZNF564	19	12639471	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	10509031	12639471	46489512	50	5546											
ZNF493	284443	hgsc.bcm.edu	37	19	21606232	21606232	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr19:21606232A>C	ENST00000355504.4	+	2	653	c.387A>C	c.(385-387)agA>agC	p.R129S	ZNF493_ENST00000392288.2_Missense_Mutation_p.R257S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CACATAAGAGAATTCATACTG	0.378																																																0													38	41	40					19																	21606232		2203	4296	6499	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.387A>C	chr19.hg19:g.21606232A>C	ENSP00000347691:p.Arg129Ser		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	hg19	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	9.658	1.143276	0.21205	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.24151	1.87;1.87	0.927	-1.44	0.08856	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41581	0.1165	M	0.79258	2.445	0.80722	D	1	D;P	0.71674	0.998;0.932	D;B	0.66084	0.941;0.317	T	0.34204	-0.9838	9	0.66056	D	0.02	.	5.0403	0.14456	0.7906:0.0:0.2094:0.0	.	129;257	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	S	257;129	ENSP00000376110:R257S;ENSP00000347691:R129S	ENSP00000347691:R129S	R	+	3	2	ZNF493	21398072	0.000000	0.05858	0.035000	0.18076	0.033000	0.12548	-4.038000	0.00308	-0.593000	0.05844	-0.586000	0.04128	AGA		0.378	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		C	21606232	A	C	21606232	3	2	82	1	0	0	0	0	1	0	0	0	17949	243	9	5	848	5	ZNF493	19	21606232	Missense_Mutation	SNP	A	TCGA-A4-A4ZT-01A-11D-A26P-10	8966761	21606232	37522751	51	5547											
ACSS1	84532	hgsc.bcm.edu	37	20	25028726	25028755	+	In_Frame_Del	DEL	GGTGATCCTCACTTCCGTTCCAGGCTCATC	GGTGATCCTCACTTCCGTTCCAGGCTCATC	-	rs144423103|rs191234596|rs559373176	byFrequency	TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	GGTGATCCTCACTTCCGTTCCAGGCTCATC	GGTGATCCTCACTTCCGTTCCAGGCTCATC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr20:25028726_25028755delGGTGATCCTCACTTCCGTTCCAGGCTCATC	ENST00000323482.4	-	2	476_505	c.397_426delGATGAGCCTGGAACGGAAGTGAGGATCACC	c.(397-426)gatgagcctggaacggaagtgaggatcaccdel	p.DEPGTEVRIT133del	ACSS1_ENST00000376726.3_In_Frame_Del_p.DEPGTEVRIT133del|ACSS1_ENST00000432802.2_In_Frame_Del_p.DEPGTEVRIT133del	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	133					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.D133A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGTACCTGTAGGTGATCCTCACTTCCGTTCCAGGCTCATCGCGCTCCCAG	0.574																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.397_426delGATGAGCCTGGAACGGAAGTGAGGATCACC	chr20.hg19:g.25028726_25028755delGGTGATCCTCACTTCCGTTCCAGGCTCATC	ENSP00000316924:p.Asp133_Thr142del		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	In_Frame_Del	DEL	ENST00000323482.4	hg19	CCDS13167.1																																																																																				0.574	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		-	25028755	GGTGATCCTCACTTCCGTTCCAGGCTCATC	-	25028726	7	5	82	1	0	1	0	1	0	0	0	0	188	987	35	0	1695	0	ACSS1	20	25028726	In_Frame_Del	DEL	GGTGATCCTCACTTCCGTTCCAGGCTCATC	TCGA-A4-A4ZT-01A-11D-A26P-10		25028726	37996794	52	5548											
KIAA0406	9675	hgsc.bcm.edu	37	20	36641648	36641648	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr20:36641648G>C	ENST00000373448.2	-	3	809	c.571C>G	c.(571-573)Cca>Gca	p.P191A	TTI1_ENST00000373447.3_Missense_Mutation_p.P191A|TTI1_ENST00000449821.1_Missense_Mutation_p.P191A|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	191					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AATGACCTTGGATGGTCCTGA	0.423																																																0													61	62	62					20																	36641648		2203	4300	6503	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.571C>G	chr20.hg19:g.36641648G>C	ENSP00000362547:p.Pro191Ala		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	hg19	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	9.292	1.050781	0.19827	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.13307	2.6;2.6;2.6	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);	0.056167	0.64402	D	0.000001	T	0.20455	0.0492	M	0.63428	1.95	0.31399	N	0.676886	D	0.56521	0.976	P	0.49085	0.6	T	0.07443	-1.0772	10	0.07813	T	0.8	-22.5589	16.312	0.82874	0.0:0.0:1.0:0.0	.	191	O43156	TTI1_HUMAN	A	191	ENSP00000362547:P191A;ENSP00000362546:P191A;ENSP00000407270:P191A	ENSP00000362546:P191A	P	-	1	0	TTI1	36075062	0.927000	0.31430	1.000000	0.80357	0.958000	0.62258	1.398000	0.34554	2.767000	0.95098	0.555000	0.69702	CCA		0.423	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		C	36641648	G	C	36641648	3	2	82	1	0	0	0	0	1	0	0	0	8175	1174	41	4	2726	4	KIAA0406	20	36641648	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	11612922	36641648	26383872	53	5549											
TSHZ2	128553	hgsc.bcm.edu	37	20	51871576	51871576	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr20:51871576G>A	ENST00000371497.5	+	2	2466	c.1579G>A	c.(1579-1581)Gcc>Acc	p.A527T	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A524T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A524T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	527					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTCACCACAGCCATCAACAA	0.522																																																0													50	54	53					20																	51871576		2203	4300	6503	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1579G>A	chr20.hg19:g.51871576G>A	ENSP00000360552:p.Ala527Thr		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	hg19	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906244	0.92107	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.50001	0.76;0.76	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.72334	0.3447	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73678	-0.3907	10	0.87932	D	0	-23.9458	20.3655	0.98876	0.0:0.0:1.0:0.0	.	527	Q9NRE2	TSH2_HUMAN	T	527;524;53	ENSP00000360552:A527T;ENSP00000333114:A524T	ENSP00000333114:A524T	A	+	1	0	TSHZ2	51304983	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.470000	0.97683	2.822000	0.97130	0.643000	0.83706	GCC		0.522	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		A	51871576	G	A	51871576	3	1	82	1	0	0	0	0	1	0	0	0	16629	971	34	2	1585	2	TSHZ2	20	51871576	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	15229928	51871576	11153944	54	5550											
IFNAR1	3454	hgsc.bcm.edu	37	21	34725063	34725063	+	Splice_Site	SNP	G	G	A			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr21:34725063G>A	ENST00000270139.3	+	9	1295		c.e9-1		IFNAR1_ENST00000416947.2_Splice_Site|IFNAR1_ENST00000442357.2_Splice_Site	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1						cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	ATATTTTCTAGAGAAAAATTA	0.328																																					Esophageal Squamous(73;817 1211 32990 35667 42746)											0													34	39	38					21																	34725063		2200	4297	6497	SO:0001630	splice_region_variant	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1144-1G>A	chr21.hg19:g.34725063G>A			B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Splice_Site	SNP	ENST00000270139.3	hg19	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650324	0.47362	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	.	.	.	5.48	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3702	0.55250	0.0:0.1684:0.8316:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFNAR1	33646933	0.956000	0.32656	0.594000	0.28785	0.331000	0.28603	4.213000	0.58520	2.562000	0.86427	0.650000	0.86243	.		0.328	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4		Intron	A	34725063	G	A	34725063	5	1	82	1	0	0	0	0	0	0	1	0	7546	956	33	2	1177	2	IFNAR1	21	34725063	Splice_Site	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10		34725063	13404832	55	5551											
TRIOBP	11078	hgsc.bcm.edu	37	22	38119757	38119757	+	Missense_Mutation	SNP	A	A	T	rs71322688|rs67890459|rs199535040|rs55745992	byFrequency	TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr22:38119757A>T	ENST00000406386.3	+	7	1449	c.1194A>T	c.(1192-1194)caA>caT	p.Q398H		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	398					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACCACTCAACGAGAGAATT	0.547																																																0													118	99	106					22																	38119757		1848	3567	5415	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1194A>T	chr22.hg19:g.38119757A>T	ENSP00000384312:p.Gln398His		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	hg19	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.346788	0.41599	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.34275	1.37	2.47	-1.65	0.08291	.	.	.	.	.	T	0.42177	0.1191	L	0.44542	1.39	0.09310	N	0.999998	D	0.54964	0.969	P	0.62382	0.901	T	0.32402	-0.9908	9	0.49607	T	0.09	.	6.5071	0.22202	0.6093:0.0:0.3907:0.0	.	398	Q9H2D6	TARA_HUMAN	H	398	ENSP00000384312:Q398H	ENSP00000384312:Q398H	Q	+	3	2	TRIOBP	36449703	.	.	0.034000	0.17996	0.078000	0.17371	.	.	-0.503000	0.06586	0.113000	0.15668	CAA		0.547	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38119757	A	T	38119757	3	4	82	1	0	0	0	0	1	0	0	0	16558	40	2	5	1212	5	TRIOBP	22	38119757	Missense_Mutation	SNP	A	TCGA-A4-A4ZT-01A-11D-A26P-10		38119757	13184809	56	5552											
SMC1B	27127	hgsc.bcm.edu	37	22	45748333	45748333	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chr22:45748333G>T	ENST00000357450.4	-	22	3422	c.3423C>A	c.(3421-3423)caC>caA	p.H1141Q	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1141	Ala/Asp-rich (DA-box).				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.H1143Q(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GACCTTACCTGTGCACAGCAA	0.443																																																1	Substitution - Missense(1)	ovary(1)											74	73	74					22																	45748333		1908	4110	6018	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.3423C>A	chr22.hg19:g.45748333G>T	ENSP00000350036:p.His1141Gln		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	hg19	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092182	0.76756	.	.	ENSG00000077935	ENST00000357450	T	0.65549	-0.16	6.17	1.52	0.23074	.	0.090318	0.48767	D	0.000179	T	0.64349	0.2590	L	0.59912	1.85	0.80722	D	1	D	0.57257	0.979	P	0.54026	0.74	T	0.65038	-0.6265	10	0.56958	D	0.05	.	8.4322	0.32764	0.1878:0.111:0.7013:0.0	.	1141	Q8NDV3-3	.	Q	1141	ENSP00000350036:H1141Q	ENSP00000350036:H1141Q	H	-	3	2	SMC1B	44126997	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.612000	0.61169	0.948000	0.37687	0.655000	0.94253	CAC		0.443	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		T	45748333	G	T	45748333	3	4	82	1	0	0	0	0	1	0	0	0	14788	1368	48	4	300	4	SMC1B	22	45748333	Missense_Mutation	SNP	G	TCGA-A4-A4ZT-01A-11D-A26P-10	7628576	45748333	5556233	57	5553											
TIMM17B	10245	hgsc.bcm.edu	37	X	48751030	48751031	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-A4-A4ZT-01A-11D-A26P-10	TCGA-A4-A4ZT-10A-01D-A26P-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	483bb781-0179-42e1-bf9c-487b240769b8	3c59a740-98eb-4a0d-8694-ac30ab89b553	g.chrX:48751030_48751031GC>CT	ENST00000376582.3	-	7	648_649	c.500_501GC>AG	c.(499-501)aGC>aAG	p.S167K	TIMM17B_ENST00000465150.2_Missense_Mutation_p.S217K|TIMM17B_ENST00000495490.2_Missense_Mutation_p.S187K|TIMM17B_ENST00000396779.3_Missense_Mutation_p.S217K|TIMM17B_ENST00000472645.1_5'UTR	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	167					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						ACTGCTGATAGCTGGGGTAGCC	0.629																																																0																																										SO:0001583	missense	10245			AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.500_501delinsCT	chrX.hg19:g.48751030_48751031delinsCT	ENSP00000365766:p.Ser167Lys		A8K2E2|J3KPV3|Q9UJV0	Missense_Mutation	SNP	ENST00000376582.3	hg19	CCDS14308.1																																																																																				0.629	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2	NM_005834		CT	48751031	GC	CT	48751030	3	2	82	1	0	0	0	0	1	0	0	0	15914	962	34	4	21	4	TIMM17B	23	48751030	Missense_Mutation	DNP	GC	TCGA-A4-A4ZT-01A-11D-A26P-10		48751030	106519530	58	5554											
PRAMEF12	390999	hgsc.bcm.edu	37	1	12835789	12835789	+	Nonsense_Mutation	SNP	C	C	T	rs201386508		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:12835789C>T	ENST00000357726.4	+	2	418	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	131					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)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTAAGAGACGAACAGCAGG	0.542																																																0								C	stop/ARG	1,4345		0,1,2172	109	123	118		391	-2.5	0	1		118	0,8588		0,0,4294	no	stop-gained	PRAMEF12	NM_001080830.1		0,1,6466	TT,TC,CC		0.0,0.023,0.0077		131/484	12835789	1,12933	2173	4294	6467	SO:0001587	stop_gained	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.391C>T	chr1.hg19:g.12835789C>T	ENSP00000350358:p.Arg131*			Nonsense_Mutation	SNP	ENST00000357726.4	hg19	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	14.34	2.507496	0.44558	2.3E-4	0.0	ENSG00000116726	ENST00000357726	.	.	.	2.8	-2.45	0.06481	.	6.292790	0.00896	N	0.002291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	5.4193	0.16392	0.3728:0.2852:0.3419:0.0	.	.	.	.	X	131	.	ENSP00000350358:R131X	R	+	1	2	PRAMEF12	12758376	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.908000	0.00700	-0.506000	0.06558	0.313000	0.20887	CGA		0.542	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		T	12835789	C	T	12835789	4	4	83	1	0	0	0	0	0	1	0	0	12433	528	19	1	397	1	PRAMEF12	1	12835789	Nonsense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10		12835789	236414832	1	5555											
MYCL1	4610	hgsc.bcm.edu	37	1	40366677	40366677	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:40366677C>T	ENST00000372816.2	-	1	877	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MYCL_ENST00000372815.1_Missense_Mutation_p.A174T|MYCL_ENST00000397332.2_Missense_Mutation_p.A174T|MYCL_ENST00000429311.1_Missense_Mutation_p.A144T|RP1-118J21.5_ENST00000418255.1_RNA			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	144						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGACAGGGGGCGGCGGGCGCC	0.761																																																0																																										SO:0001583	missense	4610				CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"Basic helix-loop-helix proteins"	7555	protein-coding gene	gene with protein product	"l-myc protein", "myc-related gene from lung cancer", "oncogene lmyc"	164850	"v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.430G>A	chr1.hg19:g.40366677C>T	ENSP00000361903:p.Ala144Thr		A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	ENST00000372816.2	hg19	CCDS30682.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711171	0.30322	.	.	ENSG00000116990	ENST00000397332;ENST00000372816;ENST00000372815;ENST00000429311	T;T;T;T	0.78003	-0.93;-1.14;1.92;1.51	5.05	1.59	0.23543	.	0.621427	0.17026	N	0.189921	T	0.57814	0.2079	N	0.22421	0.69	0.22531	N	0.999018	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.003	T	0.44050	-0.9353	10	0.41790	T	0.15	-27.6027	2.4699	0.04561	0.233:0.4938:0.1472:0.126	.	144;144	P12524-2;P12524	.;MYCL1_HUMAN	T	174;144;174;144	ENSP00000380494:A174T;ENSP00000361903:A144T;ENSP00000361902:A174T;ENSP00000389358:A144T	ENSP00000361902:A174T	A	-	1	0	MYCL1	40139264	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	1.103000	0.31062	0.575000	0.29434	0.563000	0.77884	GCC		0.761	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082		T	40366677	C	T	40366677	3	4	83	1	0	0	0	0	1	0	0	0	10022	768	27	1	797	1	MYCL1	1	40366677	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	27530888	40366677	208883944	2	5556											
FOXD2	2306	hgsc.bcm.edu	37	1	47905224	47905224	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:47905224G>A	ENST00000334793.5	+	1	3536	c.1417G>A	c.(1417-1419)Ggg>Agg	p.G473R		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	473					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CTCGCATCCCGGGGACGCGCT	0.701																																																0													5	6	6					1																	47905224		2116	4208	6324	SO:0001583	missense	2306			AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.1417G>A	chr1.hg19:g.47905224G>A	ENSP00000335493:p.Gly473Arg		Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	hg19	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990550	0.54041	.	.	ENSG00000186564	ENST00000334793	T	0.61627	0.09	4.99	4.06	0.47325	.	0.529712	0.18195	U	0.148720	T	0.32010	0.0815	N	0.14661	0.345	0.28578	N	0.910271	P	0.38992	0.653	B	0.19946	0.027	T	0.31052	-0.9957	10	0.51188	T	0.08	.	9.9291	0.41512	0.0969:0.0:0.9031:0.0	.	473	O60548	FOXD2_HUMAN	R	473	ENSP00000335493:G473R	ENSP00000335493:G473R	G	+	1	0	FOXD2	47677811	0.000000	0.05858	1.000000	0.80357	0.936000	0.57629	0.303000	0.19210	2.280000	0.76307	0.561000	0.74099	GGG		0.701	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		A	47905224	G	A	47905224	3	1	83	1	0	0	0	0	1	0	0	0	5999	1116	39	1	1419	1	FOXD2	1	47905224	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	7538547	47905224	201345397	3	5557											
C1orf51	148523	hgsc.bcm.edu	37	1	150256865	150256882	+	In_Frame_Del	DEL	ATGGACAGGATCCAGCGT	ATGGACAGGATCCAGCGT	-	rs137955605	byFrequency	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	ATGGACAGGATCCAGCGT	ATGGACAGGATCCAGCGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:150256865_150256882delATGGACAGGATCCAGCGT	ENST00000290363.5	+	3	921_938	c.472_489delATGGACAGGATCCAGCGT	c.(472-489)atggacaggatccagcgtdel	p.MDRIQR158del	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_In_Frame_Del_p.MDRIQR70del|C1orf51_ENST00000369095.1_In_Frame_Del_p.MDRIQR158del	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		158					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)	p.R163H(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGTGGCAATGGACAGGATCCAGCGTATTGTAGGTG	0.459																																																1	Substitution - Missense(1)	urinary_tract(1)																																								SO:0001651	inframe_deletion	148523																														ENST00000290363.5:c.472_489delATGGACAGGATCCAGCGT	chr1.hg19:g.150256865_150256882delATGGACAGGATCCAGCGT	ENSP00000290363:p.Met158_Arg163del		B2RD43|D3DV01|Q8N795|Q96MG6	In_Frame_Del	DEL	ENST00000290363.5	hg19	CCDS949.1																																																																																				0.459	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			-	150256882	ATGGACAGGATCCAGCGT	-	150256865	7	5	83	1	0	1	0	1	0	0	0	0	2045	101	4	0	482	0	C1orf51	1	150256865	In_Frame_Del	DEL	ATGGACAGGATCCAGCGT	TCGA-A4-A57E-01A-11D-A26P-10	102351641	150256865	98993756	4	5558											
PRUNE	58497	hgsc.bcm.edu	37	1	151001408	151001408	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:151001408delA	ENST00000271620.3	+	7	1077	c.921delA	c.(919-921)gcafs	p.A307fs	PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368934.1_Intron|PRUNE_ENST00000368936.1_Frame_Shift_Del_p.A125fs|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368937.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	307						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCATGTGGCACTCCAAACAA	0.502																																																0													129	94	106					1																	151001408		2203	4300	6503	SO:0001589	frameshift_variant	58497			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"prune homolog (Drosophila)"			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.921delA	chr1.hg19:g.151001408delA	ENSP00000271620:p.Ala307fs		B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Frame_Shift_Del	DEL	ENST00000271620.3	hg19	CCDS977.1																																																																																				0.502	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222		-	151001408	A	-	151001408	7	5	83	1	0	1	0	1	0	0	0	0	12645	146	6	0	947	0	PRUNE	1	151001408	Frame_Shift_Del	DEL	A	TCGA-A4-A57E-01A-11D-A26P-10	744543	151001408	98249213	5	5559											
PRDX6	9588	hgsc.bcm.edu	37	1	173454563	173454563	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:173454563A>G	ENST00000340385.5	+	3	448	c.316A>G	c.(316-318)Agg>Ggg	p.R106G	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	106	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CATCGATGATAGGAATCGGGA	0.453																																																0													141	133	136					1																	173454563		2203	4300	6503	SO:0001583	missense	9588			D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.316A>G	chr1.hg19:g.173454563A>G	ENSP00000342026:p.Arg106Gly		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	hg19	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	A	5.323	0.244994	0.10077	.	.	ENSG00000117592	ENST00000340385	T	0.30182	1.54	5.27	1.5	0.22942	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.924235	0.09408	N	0.806253	T	0.05318	0.0141	N	0.13299	0.325	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35847	-0.9772	10	0.35671	T	0.21	-4.8805	2.931	0.05800	0.3634:0.413:0.086:0.1375	.	106	P30041	PRDX6_HUMAN	G	106	ENSP00000342026:R106G	ENSP00000342026:R106G	R	+	1	2	PRDX6	171721186	0.000000	0.05858	0.966000	0.40874	0.149000	0.21700	0.209000	0.17435	0.911000	0.36747	0.528000	0.53228	AGG		0.453	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1	NM_004905		G	173454563	A	G	173454563	3	3	83	1	0	0	0	0	1	0	0	0	12474	411	15	3	326	3	PRDX6	1	173454563	Missense_Mutation	SNP	A	TCGA-A4-A57E-01A-11D-A26P-10	22453155	173454563	75796058	6	5560											
SIPA1L2	57568	hgsc.bcm.edu	37	1	232600607	232600607	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:232600607C>G	ENST00000366630.1	-	8	3157	c.2799G>C	c.(2797-2799)agG>agC	p.R933S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R933S|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	933					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAACAATTTCCCTGATGTCTT	0.408																																																0													63	58	60					1																	232600607		1902	4124	6026	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2799G>C	chr1.hg19:g.232600607C>G	ENSP00000355589:p.Arg933Ser		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	hg19	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859942	0.32884	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.79554	-1.28;-1.28	6.07	1.09	0.20402	.	0.000000	0.85682	D	0.000000	T	0.81163	0.4765	L	0.52759	1.655	0.51233	D	0.999913	P	0.51351	0.944	P	0.55455	0.776	T	0.77197	-0.2676	10	0.46703	T	0.11	-29.1302	10.0474	0.42195	0.0:0.3607:0.0:0.6393	.	933	Q9P2F8	SI1L2_HUMAN	S	933	ENSP00000355589:R933S;ENSP00000262861:R933S	ENSP00000262861:R933S	R	-	3	2	SIPA1L2	230667230	0.443000	0.25641	0.814000	0.32528	0.705000	0.40729	-0.151000	0.10175	-0.062000	0.13088	-0.136000	0.14681	AGG		0.408	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		G	232600607	C	G	232600607	3	3	83	1	0	0	0	0	1	0	0	0	14336	622	22	4	2429	4	SIPA1L2	1	232600607	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	59146044	232600607	16650014	7	5561											
SNTG2	54221	hgsc.bcm.edu	37	2	1241762	1241763	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:1241762_1241763CA>AT	ENST00000308624.5	+	10	951_952	c.822_823CA>AT	c.(820-825)gcCAac>gcATac	p.N275Y	SNTG2_ENST00000407292.1_Missense_Mutation_p.N148Y	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	275					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CGGTCTCAGCCAACATCAGGGA	0.55																																																0																																										SO:0001583	missense	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	Exception_encountered	chr2.hg19:g.1241762_1241763delinsAT	ENSP00000311837:p.Asn275Tyr		Q05AH5	Silent|Missense_Mutation	SNP	ENST00000308624.5	hg19	CCDS46220.1																																																																																				0.55	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		AT	1241763	CA	AT	1241762	3	1	83	1	0	0	0	0	1	0	0	0	14881	581	21	4	860	4	SNTG2	2	1241762	Missense_Mutation	DNP	CA	TCGA-A4-A57E-01A-11D-A26P-10		1241762	241957611	8	5562											
IL1A	3552	hgsc.bcm.edu	37	2	113540317	113540317	+	Silent	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:113540317G>T	ENST00000263339.3	-	3	227	c.72C>A	c.(70-72)tcC>tcA	p.S24S		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	24					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	GATGATCAATGGAGGAACTGT	0.373																																																0													243	215	224					2																	113540317		2203	4300	6503	SO:0001819	synonymous_variant	3552			M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"Interleukins and interleukin receptors", "Endogenous ligands"	5991	protein-coding gene	gene with protein product	"preinterleukin 1 alpha", "hematopoietin-1", "pro-interleukin-1-alpha"	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.72C>A	chr2.hg19:g.113540317G>T			Q53QF9|Q7RU02	Silent	SNP	ENST00000263339.3	hg19	CCDS2101.1																																																																																				0.373	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		T	113540317	G	T	113540317	2	4	83	1	0	0	0	0	0	0	0	1	7652	1335	47	4		4	IL1A	2	113540317	Silent	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	112298555	113540317	129659056	9	5563											
FAM168B	130074	hgsc.bcm.edu	37	2	131812937	131812937	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:131812937G>A	ENST00000409185.1	-	5	490	c.383C>T	c.(382-384)cCt>cTt	p.P128L	FAM168B_ENST00000389915.3_Missense_Mutation_p.P128L	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	128						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						CACCGTTGCAGGCATGCCGTT	0.622																																																0													153	170	164					2																	131812937		2164	4258	6422	SO:0001583	missense	130074				CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.383C>T	chr2.hg19:g.131812937G>A	ENSP00000387051:p.Pro128Leu		Q2TAZ6|Q6NZ40	Missense_Mutation	SNP	ENST00000409185.1	hg19	CCDS42755.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849158	0.91277	.	.	ENSG00000152102	ENST00000409185;ENST00000389915	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.70364	-0.4892	9	0.87932	D	0	-5.3044	16.8479	0.85986	0.0:0.0:1.0:0.0	.	128	A1KXE4	F168B_HUMAN	L	128	.	ENSP00000374565:P128L	P	-	2	0	FAM168B	131529407	1.000000	0.71417	0.971000	0.41717	0.857000	0.48899	9.249000	0.95470	2.640000	0.89533	0.655000	0.94253	CCT		0.622	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	NM_001009993		A	131812937	G	A	131812937	3	1	83	1	0	0	0	0	1	0	0	0	5488	1000	35	2	212	2	FAM168B	2	131812937	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	18272620	131812937	111386436	10	5564											
RAPH1	65059	hgsc.bcm.edu	37	2	204304798	204304798	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:204304798C>G	ENST00000319170.5	-	14	3414	c.3115G>C	c.(3115-3117)Gga>Cga	p.G1039R	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.G1091R|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1039					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGAGAACTCCAGGAAGGTTG	0.552																																																0													45	52	50					2																	204304798		2203	4300	6503	SO:0001583	missense	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3115G>C	chr2.hg19:g.204304798C>G	ENSP00000316543:p.Gly1039Arg		Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	hg19	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432725	0.43224	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.43294	0.95;0.96	4.46	1.62	0.23740	.	.	.	.	.	T	0.19327	0.0464	N	0.08118	0	0.09310	N	0.999998	B	0.31125	0.309	B	0.25884	0.064	T	0.16541	-1.0399	9	0.26408	T	0.33	.	7.532	0.27689	0.0:0.4758:0.0:0.5242	.	1039	Q70E73	RAPH1_HUMAN	R	1039;1091	ENSP00000316543:G1039R;ENSP00000363617:G1091R	ENSP00000316543:G1039R	G	-	1	0	RAPH1	204013043	0.026000	0.19158	0.000000	0.03702	0.668000	0.39293	0.417000	0.21214	0.104000	0.17725	0.467000	0.42956	GGA		0.552	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		G	204304798	C	G	204304798	3	3	83	1	0	0	0	0	1	0	0	0	13056	603	21	4	641	4	RAPH1	2	204304798	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	72491861	204304798	38894575	11	5565											
ZFAND2B	130617	hgsc.bcm.edu	37	2	220072714	220072714	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:220072714C>T	ENST00000289528.5	+	4	583	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	ZFAND2B_ENST00000444522.2_Silent_p.L130L|ZFAND2B_ENST00000409319.1_Silent_p.L130L|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000409097.1_Silent_p.L130L|ZFAND2B_ENST00000409217.1_Silent_p.L130L|ZFAND2B_ENST00000409206.1_Silent_p.L130L|ZFAND2B_ENST00000409594.1_Silent_p.L130L|ZFAND2B_ENST00000409412.1_Silent_p.L130L|ZFAND2B_ENST00000409336.1_Silent_p.L130L	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	130						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGCATCCACTGGACCATGA	0.552																																																0													80	86	84					2																	220072714		2203	4300	6503	SO:0001819	synonymous_variant	130617			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.388C>T	chr2.hg19:g.220072714C>T			Q8NB98	Silent	SNP	ENST00000289528.5	hg19	CCDS2435.1																																																																																				0.552	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		T	220072714	C	T	220072714	2	4	83	1	0	0	0	0	0	0	0	1	17633	564	20	2		2	ZFAND2B	2	220072714	Silent	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	15767916	220072714	23126659	12	5566											
CUL3	8452	hgsc.bcm.edu	37	2	225422463	225422463	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:225422463T>G	ENST00000264414.4	-	2	515	c.177A>C	c.(175-177)agA>agC	p.R59S	CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Missense_Mutation_p.R35S|CUL3_ENST00000409096.1_Missense_Mutation_p.R35S|CUL3_ENST00000344951.4_Intron	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	59					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TATATGCATTTCTATAGAGCT	0.338																																																0													99	97	98					2																	225422463		2203	4298	6501	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.177A>C	chr2.hg19:g.225422463T>G	ENSP00000264414:p.Arg59Ser		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	hg19	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.79|16.79	3.221692|3.221692	0.58560|0.58560	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000436172|ENST00000264414;ENST00000409096;ENST00000409777	.|T;T;T	.|0.29917	.|1.55;1.55;1.55	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55641|0.55641	0.1933|0.1933	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.67725	.|0.953;0.953	T|T	0.62511|0.62511	-0.6839|-0.6839	5|10	.|0.72032	.|D	.|0.01	.|.	8.148|8.148	0.31124|0.31124	0.0:0.1903:0.0:0.8097|0.0:0.1903:0.0:0.8097	.|.	.|37;59	.|Q53S54;Q13618	.|.;CUL3_HUMAN	Q|S	80|59;35;35	.|ENSP00000264414:R59S;ENSP00000387200:R35S;ENSP00000386525:R35S	.|ENSP00000264414:R59S	K|R	-|-	1|3	0|2	CUL3|CUL3	225130707|225130707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.980000|1.980000	0.40618|0.40618	2.234000|2.234000	0.73211|0.73211	0.533000|0.533000	0.62120|0.62120	AAA|AGA		0.338	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			G	225422463	T	G	225422463	3	3	83	1	0	0	0	0	1	0	0	0	4058	1780	62	5	2189	5	CUL3	2	225422463	Missense_Mutation	SNP	T	TCGA-A4-A57E-01A-11D-A26P-10	5349749	225422463	17776910	13	5567											
KIF1A	547	hgsc.bcm.edu	37	2	241658528	241658528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:241658528delG	ENST00000320389.7	-	45	4964	c.4806delC	c.(4804-4806)cccfs	p.P1602fs	KIF1A_ENST00000498729.2_Frame_Shift_Del_p.P1703fs	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1602	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGTAGGCATAGGGGCGCCGCA	0.622																																																0													87	100	96					2																	241658528		2166	4274	6440	SO:0001589	frameshift_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4806delC	chr2.hg19:g.241658528delG	ENSP00000322791:p.Pro1602fs		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Frame_Shift_Del	DEL	ENST00000320389.7	hg19	CCDS46561.1																																																																																				0.622	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		-	241658528	G	-	241658528	7	5	83	1	0	1	0	1	0	0	0	0	8285	987	35	0	278	0	KIF1A	2	241658528	Frame_Shift_Del	DEL	G	TCGA-A4-A57E-01A-11D-A26P-10	16236065	241658528	1540845	14	5568											
CMTM7	112616	hgsc.bcm.edu	37	3	32433539	32433539	+	Silent	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr3:32433539G>C	ENST00000334983.5	+	1	377	c.141G>C	c.(139-141)ctG>ctC	p.L47L	CMTM7_ENST00000349718.4_Silent_p.L47L	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	47	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(1)|lung(2)	4						ACGCGGCCCTGCTGAAAGTGG	0.756																																																0													2	2	2					3																	32433539		1638	3364	5002	SO:0001819	synonymous_variant	112616			AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"chemokine-like factor super family 7", "chemokine-like factor superfamily 7"	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.141G>C	chr3.hg19:g.32433539G>C			Q5VLK1	Silent	SNP	ENST00000334983.5	hg19	CCDS33730.1																																																																																				0.756	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1			C	32433539	G	C	32433539	2	2	83	1	0	0	0	0	0	0	0	1	3590	1306	46	4		4	CMTM7	3	32433539	Silent	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10		32433539	165588891	15	5569											
KIT	3815	hgsc.bcm.edu	37	4	55570036	55570036	+	Silent	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr4:55570036C>G	ENST00000288135.5	+	5	1000	c.903C>G	c.(901-903)gtC>gtG	p.V301V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	301	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAAATGTCACAACAACCT	0.348		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0													168	163	165					4																	55570036		2203	4300	6503	SO:0001819	synonymous_variant	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.903C>G	chr4.hg19:g.55570036C>G			B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	hg19	CCDS3496.1																																																																																				0.348	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			G	55570036	C	G	55570036	2	3	83	1	0	0	0	0	0	0	0	1	8331	813	29	4		4	KIT	4	55570036	Silent	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10		55570036	135584240	16	5570											
ADAMTS3	9508	hgsc.bcm.edu	37	4	73148995	73148995	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr4:73148995C>T	ENST00000286657.4	-	22	3512	c.3476G>A	c.(3475-3477)aGt>aAt	p.S1159N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1159					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAGCTGAACTGAGGTGGAC	0.498																																					NSCLC(168;1941 2048 2918 13048 43078)											0													195	172	180					4																	73148995		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3476G>A	chr4.hg19:g.73148995C>T	ENSP00000286657:p.Ser1159Asn		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	hg19	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.777427	0.00080	.	.	ENSG00000156140	ENST00000286657	T	0.61040	0.14	5.23	-10.5	0.00291	.	1.555640	0.04150	N	0.321125	T	0.22282	0.0537	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27706	-1.0066	10	0.09084	T	0.74	.	11.9585	0.52995	0.0:0.5187:0.2677:0.2136	.	1159	O15072	ATS3_HUMAN	N	1159	ENSP00000286657:S1159N	ENSP00000286657:S1159N	S	-	2	0	ADAMTS3	73367859	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.403000	0.01046	-2.504000	0.00508	-0.423000	0.05987	AGT		0.498	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			T	73148995	C	T	73148995	3	4	83	1	0	0	0	0	1	0	0	0	267	565	20	2	145	2	ADAMTS3	4	73148995	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	17578959	73148995	118005281	17	5571											
DMXL1	1657	hgsc.bcm.edu	37	5	118451949	118451949	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr5:118451949A>T	ENST00000311085.8	+	7	741	c.661A>T	c.(661-663)Att>Ttt	p.I221F	DMXL1_ENST00000539542.1_Missense_Mutation_p.I221F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	221			I -> M (in dbSNP:rs7700801).							breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCAAGGAGAAATTGACTTTTC	0.403																																																0													136	130	132					5																	118451949		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.661A>T	chr5.hg19:g.118451949A>T	ENSP00000309690:p.Ile221Phe			Missense_Mutation	SNP	ENST00000311085.8	hg19	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554283	0.45487	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.66815	1.93;-0.23;2.94	4.96	2.25	0.28309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.551167	0.19764	N	0.106592	T	0.46328	0.1387	L	0.28400	0.85	0.25888	N	0.983509	B;B	0.22541	0.071;0.042	B;B	0.23018	0.043;0.019	T	0.17930	-1.0353	10	0.24483	T	0.36	-0.2952	3.3933	0.07297	0.3747:0.2296:0.3958:0.0	.	221;221	F5H269;Q9Y485	.;DMXL1_HUMAN	F	221	ENSP00000427692:I221F;ENSP00000309690:I221F;ENSP00000439479:I221F	ENSP00000309690:I221F	I	+	1	0	DMXL1	118479848	1.000000	0.71417	0.979000	0.43373	0.953000	0.61014	1.200000	0.32247	0.842000	0.35045	0.533000	0.62120	ATT		0.403	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		T	118451949	A	T	118451949	3	4	83	1	0	0	0	0	1	0	0	0	4596	101	4	5	687	5	DMXL1	5	118451949	Missense_Mutation	SNP	A	TCGA-A4-A57E-01A-11D-A26P-10		118451949	62463311	18	5572											
ARAP3	64411	hgsc.bcm.edu	37	5	141035313	141035313	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr5:141035313G>C	ENST00000239440.4	-	31	4050	c.3985C>G	c.(3985-3987)Cag>Gag	p.Q1329E	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.Q991E|ARAP3_ENST00000508305.1_Missense_Mutation_p.Q1160E	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1329					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACCACTGGCTGCTGGTCATCG	0.617																																																0													84	79	81					5																	141035313		2203	4300	6503	SO:0001583	missense	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3985C>G	chr5.hg19:g.141035313G>C	ENSP00000239440:p.Gln1329Glu		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	hg19	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782249	0.31502	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.14893	2.47;3.19;3.04	5.66	5.66	0.87406	Pleckstrin homology-type (1);	0.184808	0.46442	D	0.000286	T	0.14960	0.0361	N	0.24115	0.695	0.36230	D	0.852566	P;P;P	0.46220	0.65;0.874;0.637	B;B;B	0.40375	0.306;0.327;0.087	T	0.06844	-1.0804	10	0.35671	T	0.21	.	19.3334	0.94303	0.0:0.0:1.0:0.0	.	991;1160;1329	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	E	1160;1329;991	ENSP00000421826:Q1160E;ENSP00000239440:Q1329E;ENSP00000421468:Q991E	ENSP00000239440:Q1329E	Q	-	1	0	ARAP3	141015497	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.807000	0.69157	2.675000	0.91044	0.655000	0.94253	CAG		0.617	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		C	141035313	G	C	141035313	3	2	83	1	0	0	0	0	1	0	0	0	840	1328	46	4	661	4	ARAP3	5	141035313	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	22583364	141035313	39879947	19	5573											
PCDH12	51294	hgsc.bcm.edu	37	5	141334867	141334868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr5:141334867_141334868insA	ENST00000231484.3	-	1	3759_3760	c.2549_2550insT	c.(2548-2550)ttcfs	p.F850fs	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	850					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGATGGTTGAAAAGGAGGTT	0.629																																																0																																										SO:0001589	frameshift_variant	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2550dupT	chr5.hg19:g.141334871_141334871dupA	ENSP00000231484:p.Phe850fs		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	hg19	CCDS4269.1																																																																																				0.629	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		A	141334868	-	A	141334867	7	5	83	1	0	1	1	0	0	0	0	0	11512	1281	45	0	1020	0	PCDH12	5	141334867	Frame_Shift_Ins	INS	-	TCGA-A4-A57E-01A-11D-A26P-10	299554	141334867	39580393	20	5574											
ADAMTS2	9509	hgsc.bcm.edu	37	5	178567002	178567002	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr5:178567002G>A	ENST00000251582.7	-	11	1765	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	555	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GAGGATGTCAGGTGTCAGCCA	0.607																																																0													162	170	167					5																	178567002		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1664C>T	chr5.hg19:g.178567002G>A	ENSP00000251582:p.Pro555Leu			Missense_Mutation	SNP	ENST00000251582.7	hg19	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362637	0.41902	.	.	ENSG00000087116	ENST00000251582	T	0.61274	0.12	4.92	4.92	0.64577	.	0.000000	0.53938	D	0.000058	T	0.62841	0.2461	N	0.20685	0.6	0.80722	D	1	D	0.71674	0.998	D	0.68765	0.96	T	0.67201	-0.5730	10	0.52906	T	0.07	.	17.1242	0.86710	0.0:0.0:1.0:0.0	.	555	O95450	ATS2_HUMAN	L	555	ENSP00000251582:P555L	ENSP00000251582:P555L	P	-	2	0	ADAMTS2	178499608	1.000000	0.71417	0.117000	0.21633	0.227000	0.25037	9.282000	0.95840	2.281000	0.76405	0.561000	0.74099	CCT		0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178567002	G	A	178567002	3	1	83	1	0	0	0	0	1	0	0	0	265	1000	35	2	2019	2	ADAMTS2	5	178567002	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	37232135	178567002	2348258	21	5575											
COL21A1	81578	hgsc.bcm.edu	37	6	55925556	55925557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr6:55925556_55925557insA	ENST00000244728.5	-	27	2786_2787	c.2389_2390insT	c.(2389-2391)tgcfs	p.C797fs	COL21A1_ENST00000370808.2_Frame_Shift_Ins_p.C197fs|COL21A1_ENST00000535941.1_Frame_Shift_Ins_p.C797fs|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Frame_Shift_Ins_p.C794fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	797					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACATCTGTGCAAACTTGTCGA	0.297																																																0																																										SO:0001589	frameshift_variant	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2390dupT	chr6.hg19:g.55925559_55925559dupA	ENSP00000244728:p.Cys797fs		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Frame_Shift_Ins	INS	ENST00000244728.5	hg19	CCDS55025.1																																																																																				0.297	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			A	55925557	-	A	55925556	7	5	83	1	0	1	1	0	0	0	0	0	3682	710	25	0	499	0	COL21A1	6	55925556	Frame_Shift_Ins	INS	-	TCGA-A4-A57E-01A-11D-A26P-10		55925556	115189511	22	5576											
LAMA2	3908	hgsc.bcm.edu	37	6	129766960	129766960	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr6:129766960C>T	ENST00000421865.2	+	45	6472	c.6423C>T	c.(6421-6423)gcC>gcT	p.A2141A		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2141	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAAACAAGCCAATTCTGTAA	0.368																																																0													53	48	50					6																	129766960		2203	4300	6503	SO:0001819	synonymous_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6423C>T	chr6.hg19:g.129766960C>T			Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	hg19	CCDS5138.1																																																																																				0.368	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129766960	C	T	129766960	2	4	83	1	0	0	0	0	0	0	0	1	8608	581	21	2		2	LAMA2	6	129766960	Silent	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	73841404	129766960	41348107	23	5577											
REPS1	85021	hgsc.bcm.edu	37	6	139235873	139235873	+	Silent	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr6:139235873G>T	ENST00000450536.2	-	15	2320	c.1746C>A	c.(1744-1746)gcC>gcA	p.A582A	REPS1_ENST00000415951.2_Silent_p.A555A|REPS1_ENST00000258062.5_Silent_p.A581A|REPS1_ENST00000367663.4_Silent_p.A555A|REPS1_ENST00000409812.2_Silent_p.A491A			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	582	Pro-rich.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CAGGAGGATGGGCAACAACTC	0.398																																																0													142	141	142					6																	139235873		2203	4300	6503	SO:0001819	synonymous_variant	85021				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1746C>A	chr6.hg19:g.139235873G>T			B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Silent	SNP	ENST00000450536.2	hg19																																																																																					0.398	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			T	139235873	G	T	139235873	2	4	83	1	0	0	0	0	0	0	0	1	13234	1219	43	4		4	REPS1	6	139235873	Silent	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	9468913	139235873	31879194	24	5578											
MEOX2	4223	hgsc.bcm.edu	37	7	15725867	15725867	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:15725867G>C	ENST00000262041.5	-	1	570	c.161C>G	c.(160-162)cCc>cGc	p.P54R	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	54					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CTCTTCGTTGGGGTATCCCGC	0.572																																					Esophageal Squamous(140;197 1769 16409 18257 29929)											0													59	53	55					7																	15725867		2203	4300	6503	SO:0001583	missense	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.161C>G	chr7.hg19:g.15725867G>C	ENSP00000262041:p.Pro54Arg		B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	hg19	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877795	0.51801	.	.	ENSG00000106511	ENST00000262041	D	0.91068	-2.78	4.88	4.88	0.63580	.	0.233514	0.43919	D	0.000502	D	0.89269	0.6667	L	0.54323	1.7	0.54753	D	0.999981	B	0.23891	0.093	B	0.26517	0.07	D	0.86520	0.1815	10	0.44086	T	0.13	-23.5827	18.4725	0.90779	0.0:0.0:1.0:0.0	.	54	P50222	MEOX2_HUMAN	R	54	ENSP00000262041:P54R	ENSP00000262041:P54R	P	-	2	0	MEOX2	15692392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.705000	0.91357	2.424000	0.82194	0.650000	0.86243	CCC		0.572	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		C	15725867	G	C	15725867	3	2	83	1	0	0	0	0	1	0	0	0	9476	1232	43	4	765	4	MEOX2	7	15725867	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10		15725867	143412796	25	5579											
HDAC9	9734	hgsc.bcm.edu	37	7	18975517	18975517	+	Silent	SNP	C	C	T	rs534633020		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:18975517C>T	ENST00000432645.2	+	22	2880	c.2880C>T	c.(2878-2880)gcC>gcT	p.A960A	HDAC9_ENST00000401921.1_Silent_p.A919A|HDAC9_ENST00000406451.4_Silent_p.A960A|HDAC9_ENST00000441542.2_Silent_p.A963A	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	960	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCTCACAGCCATCTGTGATG	0.433																																																0													200	193	195					7																	18975517		1929	4145	6074	SO:0001819	synonymous_variant	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2880C>T	chr7.hg19:g.18975517C>T			A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	hg19	CCDS47555.1																																																																																				0.433	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			T	18975517	C	T	18975517	2	4	83	1	0	0	0	0	0	0	0	1	7016	581	21	2		2	HDAC9	7	18975517	Silent	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	3249650	18975517	140163146	26	5580											
C7orf46	340277	hgsc.bcm.edu	37	7	23728992	23728992	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:23728992C>G	ENST00000344962.4	+	3	433	c.344C>G	c.(343-345)cCc>cGc	p.P115R	FAM221A_ENST00000409192.3_Missense_Mutation_p.P115R|FAM221A_ENST00000409994.3_Missense_Mutation_p.P57R|FAM221A_ENST00000409653.1_Missense_Mutation_p.P57R	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	115																	CTTTATGTCCCCTTGAATGGT	0.493																																																0													86	78	81					7																	23728992		2203	4300	6503	SO:0001583	missense	340277				CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 46"	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.344C>G	chr7.hg19:g.23728992C>G	ENSP00000342576:p.Pro115Arg		Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	hg19	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896270	0.72639	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.58	5.58	0.84498	.	0.051181	0.85682	D	0.000000	T	0.57272	0.2042	M	0.90650	3.135	0.53005	D	0.999968	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.94;0.996;0.996	T	0.65841	-0.6070	10	0.87932	D	0	-12.9907	19.5733	0.95430	0.0:1.0:0.0:0.0	.	57;115;115	A4D161-3;A4D161-2;A4D161	.;.;CG046_HUMAN	R	115;115;57;57	ENSP00000386927:P115R;ENSP00000342576:P115R;ENSP00000386900:P57R;ENSP00000386631:P57R	ENSP00000342576:P115R	P	+	2	0	C7orf46	23695517	1.000000	0.71417	0.971000	0.41717	0.755000	0.42902	5.491000	0.66887	2.622000	0.88805	0.585000	0.79938	CCC		0.493	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		G	23728992	C	G	23728992	3	3	83	1	0	0	0	0	1	0	0	0	2398	623	22	4	354	4	C7orf46	7	23728992	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	4753475	23728992	135409671	27	5581											
NEUROD6	63974	hgsc.bcm.edu	37	7	31377935	31377935	+	Silent	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:31377935G>A	ENST00000297142.3	-	2	1270	c.948C>T	c.(946-948)taC>taT	p.Y316Y		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	316					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Y316Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GATGTAAGTCGTAAGGGAAGT	0.453																																																1	Substitution - coding silent(1)	endometrium(1)											82	81	81					7																	31377935		2203	4300	6503	SO:0001819	synonymous_variant	63974			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.948C>T	chr7.hg19:g.31377935G>A			Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	hg19	CCDS5434.1																																																																																				0.453	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		A	31377935	G	A	31377935	2	1	83	1	0	0	0	0	0	0	0	1	10353	1140	40	1		1	NEUROD6	7	31377935	Silent	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	7648943	31377935	127760728	28	5582											
SAMD9L	219285	hgsc.bcm.edu	37	7	92764048	92764048	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:92764048A>T	ENST00000318238.4	-	5	2453	c.1237T>A	c.(1237-1239)Tac>Aac	p.Y413N	SAMD9L_ENST00000437805.1_Missense_Mutation_p.Y413N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.Y413N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	413					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTCATAGTATGAATTATCC	0.358																																																0													136	138	137					7																	92764048		2203	4299	6502	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1237T>A	chr7.hg19:g.92764048A>T	ENSP00000326247:p.Tyr413Asn		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	hg19	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.892471	0.52121	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13538	2.58;2.58;2.58	4.74	4.74	0.60224	.	0.088161	0.46442	D	0.000299	T	0.31104	0.0786	L	0.51422	1.61	0.42354	D	0.992381	D	0.89917	1.0	D	0.77557	0.99	T	0.03514	-1.1029	10	0.72032	D	0.01	-9.3295	14.0508	0.64734	1.0:0.0:0.0:0.0	.	413	Q8IVG5	SAM9L_HUMAN	N	413	ENSP00000326247:Y413N;ENSP00000405760:Y413N;ENSP00000408796:Y413N	ENSP00000326247:Y413N	Y	-	1	0	SAMD9L	92601984	0.688000	0.27680	0.999000	0.59377	0.977000	0.68977	2.301000	0.43628	1.991000	0.58162	0.377000	0.23210	TAC		0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		T	92764048	A	T	92764048	3	4	83	1	0	0	0	0	1	0	0	0	13833	449	16	5	3521	5	SAMD9L	7	92764048	Missense_Mutation	SNP	A	TCGA-A4-A57E-01A-11D-A26P-10	61386113	92764048	66374615	29	5583											
CCDC132	55610	hgsc.bcm.edu	37	7	92953019	92953019	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:92953019A>T	ENST00000305866.5	+	21	2080	c.1952A>T	c.(1951-1953)tAt>tTt	p.Y651F	CCDC132_ENST00000544910.1_Missense_Mutation_p.Y621F|CCDC132_ENST00000535481.1_Missense_Mutation_p.Y371F|CCDC132_ENST00000541136.1_Missense_Mutation_p.Y462F	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	651						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TATGCAATATATACCTTTTTT	0.279																																																0													77	71	73					7																	92953019		1800	4052	5852	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1952A>T	chr7.hg19:g.92953019A>T	ENSP00000307666:p.Tyr651Phe		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	hg19	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071795	0.76301	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481	.	.	.	4.68	4.68	0.58851	.	0.061363	0.64402	D	0.000002	T	0.53158	0.1779	N	0.12853	0.265	0.80722	D	1	D;D;D	0.64830	0.993;0.994;0.993	D;D;D	0.68192	0.956;0.915;0.956	T	0.57768	-0.7754	9	0.41790	T	0.15	-9.4515	14.0796	0.64912	1.0:0.0:0.0:0.0	.	371;621;651	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	F	651;621;462;371	.	ENSP00000307666:Y651F	Y	+	2	0	CCDC132	92790955	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.058000	0.93896	1.877000	0.54381	0.402000	0.26972	TAT		0.279	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		T	92953019	A	T	92953019	3	4	83	1	0	0	0	0	1	0	0	0	2769	449	16	5	2076	5	CCDC132	7	92953019	Missense_Mutation	SNP	A	TCGA-A4-A57E-01A-11D-A26P-10	188971	92953019	66185644	30	5584											
BHLHA15	168620	hgsc.bcm.edu	37	7	97842056	97842056	+	Silent	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:97842056G>A	ENST00000609256.1	+	2	561	c.435G>A	c.(433-435)ccG>ccA	p.P145P	BHLHA15_ENST00000314018.2_Silent_p.P145P			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	145					calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|Golgi organization (GO:0007030)|intracellular distribution of mitochondria (GO:0048312)|mitochondrial calcium ion transport (GO:0006851)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)										TGGAGGGGCCGGGCCCCAAGC	0.667																																																0													12	12	12					7																	97842056		2137	4189	6326	SO:0001819	synonymous_variant	168620			BK000276	CCDS5655.1	7q21.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000180535	ENSG00000180535		"Basic helix-loop-helix proteins"	22265	protein-coding gene	gene with protein product		608606	"basic helix-loop-helix domain containing, class B, 8"	BHLHB8		14516699, 18557763	Standard	NM_177455		Approved	MIST1, bHLHa15	uc003upf.1	Q7RTS1	OTTHUMG00000154289	ENST00000609256.1:c.435G>A	chr7.hg19:g.97842056G>A			A4D271|Q14DE4	Silent	SNP	ENST00000609256.1	hg19	CCDS5655.1																																																																																				0.667	BHLHA15-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472733.1	NM_177455		A	97842056	G	A	97842056	2	1	83	1	0	0	0	0	0	0	0	1	1419	1103	39	1		1	BHLHA15	7	97842056	Silent	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	4889037	97842056	61296607	31	5585											
MUC17	140453	hgsc.bcm.edu	37	7	100676808	100676808	+	Missense_Mutation	SNP	A	A	G	rs71517134		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:100676808A>G	ENST00000306151.4	+	3	2175	c.2111A>G	c.(2110-2112)gAg>gGg	p.E704G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	704	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAGTTCTGAGGCTAGCACC	0.502																																																0													340	344	343					7																	100676808		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2111A>G	chr7.hg19:g.100676808A>G	ENSP00000302716:p.Glu704Gly		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.191	-0.635436	0.03584	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	1.07	-0.378	0.12497	.	.	.	.	.	T	0.01189	0.0039	N	0.11560	0.145	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.51458	-0.8703	9	0.25751	T	0.34	.	5.6279	0.17492	0.4094:0.5906:0.0:0.0	.	704	Q685J3	MUC17_HUMAN	G	704	ENSP00000302716:E704G	ENSP00000302716:E704G	E	+	2	0	MUC17	100463528	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.400000	0.07241	-0.070000	0.12908	-0.949000	0.02662	GAG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100676808	A	G	100676808	3	3	83	1	0	0	0	0	1	0	0	0	9976	304	11	3	2121	3	MUC17	7	100676808	Missense_Mutation	SNP	A	TCGA-A4-A57E-01A-11D-A26P-10	2834752	100676808	58461855	32	5586											
TRPV5	56302	hgsc.bcm.edu	37	7	142606703	142606703	+	Silent	SNP	G	G	A	rs368151896	byFrequency	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:142606703G>A	ENST00000265310.1	-	14	2196	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	616					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACAGATCCCGGAGCGAGGCC	0.597													G|||	7	0.00139776	0.0	0.0	5008	,	,		20437	0.0		0.0	False		,,,				2504	0.0072															0													79	70	73					7																	142606703		2203	4300	6503	SO:0001819	synonymous_variant	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1848C>T	chr7.hg19:g.142606703G>A			A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	hg19	CCDS5875.1																																																																																				0.597	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		A	142606703	G	A	142606703	2	1	83	1	0	0	0	0	0	0	0	1	16604	1103	39	1		1	TRPV5	7	142606703	Silent	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	41929895	142606703	16531960	33	5587											
COL22A1	169044	hgsc.bcm.edu	37	8	139707076	139707076	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr8:139707076C>T	ENST00000303045.6	-	33	3085	c.2639G>A	c.(2638-2640)gGg>gAg	p.G880E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G880E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	880	Collagen-like 7.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACCGGTTCCCCAGGCAGGCC	0.602										HNSCC(7;0.00092)																																						0													104	98	100					8																	139707076		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2639G>A	chr8.hg19:g.139707076C>T	ENSP00000303153:p.Gly880Glu		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	hg19	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	9.130	1.011213	0.19277	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99353	-5.77;-5.77	4.06	3.19	0.36642	.	0.000000	0.48286	U	0.000190	D	0.99489	0.9818	H	0.96518	3.835	0.43412	D	0.995558	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99078	1.0836	10	0.87932	D	0	.	7.6856	0.28538	0.0:0.883:0.0:0.117	.	880;880	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	E	880;880;593	ENSP00000303153:G880E;ENSP00000387655:G880E	ENSP00000303153:G880E	G	-	2	0	COL22A1	139776258	0.931000	0.31567	0.745000	0.31077	0.080000	0.17528	3.173000	0.50839	1.056000	0.40484	0.551000	0.68910	GGG		0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139707076	C	T	139707076	3	4	83	1	0	0	0	0	1	0	0	0	3683	623	22	2	2373	2	COL22A1	8	139707076	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10		139707076	6656946	34	5588											
TOP1MT	116447	hgsc.bcm.edu	37	8	144397926	144397926	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr8:144397926G>C	ENST00000329245.4	-	12	1558	c.1524C>G	c.(1522-1524)caC>caG	p.H508Q	TOP1MT_ENST00000523676.1_Missense_Mutation_p.H410Q|TOP1MT_ENST00000519148.1_Missense_Mutation_p.H410Q|TOP1MT_ENST00000521193.1_Missense_Mutation_p.H410Q|AC087793.1_ENST00000585120.1_RNA	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	508					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CTTGGGCTTTGTGCTCAGCCC	0.662																																																0													131	84	100					8																	144397926		2203	4300	6503	SO:0001583	missense	116447			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1524C>G	chr8.hg19:g.144397926G>C	ENSP00000328835:p.His508Gln		B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	hg19	CCDS6400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.192|1.192	-0.634970|-0.634970	0.03584|0.03584	.|.	.|.	ENSG00000184428|ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676|ENST00000519977	T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98|.	3.56|3.56	-0.755|-0.755	0.11061|0.11061	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerases I, dispensable insert, eukaryotic-type (1);|.	1.222760|.	0.06298|.	U|.	0.700351|.	T|T	0.41119|0.41119	0.1145|0.1145	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	P;B|.	0.43826|.	0.818;0.437|.	B;B|.	0.43194|.	0.411;0.131|.	T|T	0.38308|0.38308	-0.9667|-0.9667	10|5	0.18276|.	T|.	0.48|.	.|.	4.746|4.746	0.13038|0.13038	0.4744:0.1621:0.3634:0.0|0.4744:0.1621:0.3634:0.0	.|.	303;508|.	E7ESI1;Q969P6|.	.;TOP1M_HUMAN|.	Q|E	508;410;410;410|18	ENSP00000328835:H508Q;ENSP00000428369:H410Q;ENSP00000429169:H410Q;ENSP00000429181:H410Q|.	ENSP00000328835:H508Q|.	H|Q	-|-	3|1	2|0	TOP1MT|TOP1MT	144469301|144469301	0.018000|0.018000	0.18449|0.18449	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.132000|0.132000	0.15891|0.15891	-0.145000|-0.145000	0.11294|0.11294	-0.351000|-0.351000	0.07748|0.07748	CAC|CAA		0.662	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		C	144397926	G	C	144397926	3	2	83	1	0	0	0	0	1	0	0	0	16369	1368	48	4	293	4	TOP1MT	8	144397926	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	4690850	144397926	1966096	35	5589											
KCNT1	57582	hgsc.bcm.edu	37	9	138649177	138649177	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr9:138649177C>G	ENST00000263604.3	+	9	652	c.652C>G	c.(652-654)Ccc>Gcc	p.P218A	KCNT1_ENST00000487664.1_Missense_Mutation_p.P189A|KCNT1_ENST00000298480.5_Missense_Mutation_p.P237A|KCNT1_ENST00000371757.2_Missense_Mutation_p.P237A|KCNT1_ENST00000488444.2_Missense_Mutation_p.P218A|KCNT1_ENST00000486577.2_Missense_Mutation_p.P198A|KCNT1_ENST00000490355.2_Missense_Mutation_p.P218A|KCNT1_ENST00000491806.2_Missense_Mutation_p.P204A			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	218					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGTTCATCCCCGTCTTTCT	0.667																																																0													51	58	55					9																	138649177		2203	4300	6503	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.652C>G	chr9.hg19:g.138649177C>G	ENSP00000263604:p.Pro218Ala		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	hg19		.	.	.	.	.	.	.	.	.	.	.	23.4	4.416656	0.83449	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;D;T	0.97186	1.86;1.86;1.86;-4.28;1.86	4.63	4.63	0.57726	.	0.000000	0.85682	U	0.000000	D	0.98337	0.9448	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.91635	0.999;0.989;0.992	D	0.99577	1.0972	10	0.72032	D	0.01	-28.7902	16.4704	0.84109	0.0:1.0:0.0:0.0	.	204;237;189	C9JYL2;B9EGP2;G5E9V0	.;.;.	A	189;237;237;184;198;204;218;218;218	ENSP00000417851:P189A;ENSP00000298480:P237A;ENSP00000360822:P237A;ENSP00000420764:P184A;ENSP00000263604:P218A	ENSP00000263604:P218A	P	+	1	0	KCNT1	137788998	1.000000	0.71417	0.995000	0.50966	0.866000	0.49608	7.427000	0.80284	2.124000	0.65301	0.460000	0.39030	CCC		0.667	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		G	138649177	C	G	138649177	3	3	83	1	0	0	0	0	1	0	0	0	8093	623	22	4	743	4	KCNT1	9	138649177	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10		138649177	2564254	36	5590											
GPRIN2	9721	hgsc.bcm.edu	37	10	46999193	46999193	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr10:46999193G>A	ENST00000374317.1	+	3	586	c.313G>A	c.(313-315)Gac>Aac	p.D105N	GPRIN2_ENST00000374314.4_Missense_Mutation_p.D105N	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	105										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGGCGGCAGTGACCTGTGTCG	0.652																																																0													30	29	29					10																	46999193		2196	4288	6484	SO:0001583	missense	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.313G>A	chr10.hg19:g.46999193G>A	ENSP00000363436:p.Asp105Asn		Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	hg19	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467432	0.63625	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03982	3.74;3.74	5.11	5.11	0.69529	.	0.279617	0.25830	N	0.028026	T	0.11495	0.0280	L	0.54323	1.7	0.09310	N	1	D	0.56746	0.977	P	0.52957	0.714	T	0.04678	-1.0934	10	0.45353	T	0.12	-14.3008	14.245	0.65983	0.0:0.0:1.0:0.0	.	105	O60269	GRIN2_HUMAN	N	105	ENSP00000363436:D105N;ENSP00000363433:D105N	ENSP00000363433:D105N	D	+	1	0	GPRIN2	46419199	0.655000	0.27376	0.709000	0.30452	0.969000	0.65631	3.163000	0.50763	2.833000	0.97629	0.650000	0.86243	GAC		0.652	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		A	46999193	G	A	46999193	3	1	83	1	0	0	0	0	1	0	0	0	6732	1290	45	2	315	2	GPRIN2	10	46999193	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10		46999193	88535554	37	5591											
PNLIPRP1	5407	hgsc.bcm.edu	37	10	118357347	118357347	+	Silent	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr10:118357347T>C	ENST00000528052.1	+	7	653	c.582T>C	c.(580-582)gaT>gaC	p.D194D	PNLIPRP1_ENST00000534537.1_Silent_p.D194D|PNLIPRP1_ENST00000358834.4_Silent_p.D194D			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	194					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TAGGGTTGGATCCTGTAGAAG	0.507																																																0													149	129	136					10																	118357347		2203	4300	6503	SO:0001819	synonymous_variant	5407			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.582T>C	chr10.hg19:g.118357347T>C			Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	hg19	CCDS7595.1																																																																																				0.507	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		C	118357347	T	C	118357347	2	2	83	1	0	0	0	0	0	0	0	1	12152	1432	50	3		3	PNLIPRP1	10	118357347	Silent	SNP	T	TCGA-A4-A57E-01A-11D-A26P-10	71358154	118357347	17177400	38	5592											
MUC2	4583	hgsc.bcm.edu	37	11	1094686	1094686	+	Missense_Mutation	SNP	C	C	T	rs375767205		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:1094686C>T	ENST00000441003.2	+	31	5801	c.5774C>T	c.(5773-5775)aCg>aTg	p.T1925M	MUC2_ENST00000361558.6_Missense_Mutation_p.T63M|MUC2_ENST00000333592.6_Missense_Mutation_p.T213M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4287					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCGGTACCACGACCGGGTCA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16685	0.0		0.0	False		,,,				2504	0.001															0									MET/THR	3,4229		0,3,2113	70	87	82		5759	-0.2	0	11		82	1,8447		0,1,4223	no	missense	MUC2	NM_002457.2	81	0,4,6336	TT,TC,CC		0.0118,0.0709,0.0315	benign	1920/2813	1094686	4,12676	2116	4224	6340	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5774C>T	chr11.hg19:g.1094686C>T	ENSP00000415183:p.Thr1925Met		Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	C	7.600	0.672559	0.14776	7.09E-4	1.18E-4	ENSG00000198788	ENST00000441003;ENST00000361558;ENST00000333592	T;T;T	0.51071	2.55;0.72;3.15	2.06	-0.251	0.13003	.	.	.	.	.	T	0.40094	0.1103	M	0.65975	2.015	0.09310	N	1	B	0.18610	0.029	B	0.04013	0.001	T	0.40869	-0.9540	9	0.62326	D	0.03	.	3.434	0.07438	0.2454:0.5996:0.0:0.155	.	1925	E7EUV1	.	M	1925;63;213	ENSP00000415183:T1925M;ENSP00000354885:T63M;ENSP00000331373:T213M	ENSP00000331373:T213M	T	+	2	0	MUC2	1084686	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.419000	0.21247	-0.196000	0.10366	-0.354000	0.07668	ACG		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1094686	C	T	1094686	3	4	83	1	0	0	0	0	1	0	0	0	9977	536	19	1	5888	1	MUC2	11	1094686	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10		1094686	133911830	39	5593											
MRGPRX3	117195	hgsc.bcm.edu	37	11	18159591	18159591	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:18159591delG	ENST00000396275.2	+	3	1203	c.842delG	c.(841-843)cgtfs	p.R281fs		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	281				R -> L (in Ref. 2; AAL86879). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTAGGCAGCGTCAAAATAGG	0.517																																																0													56	60	58					11																	18159591		2200	4290	6490	SO:0001589	frameshift_variant	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.842delG	chr11.hg19:g.18159591delG	ENSP00000379571:p.Arg281fs		B0M0L1|Q8TDE0|Q8TDE1	Frame_Shift_Del	DEL	ENST00000396275.2	hg19	CCDS7830.1																																																																																				0.517	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		-	18159591	G	-	18159591	7	5	83	1	0	1	0	1	0	0	0	0	9770	1145	40	0	844	0	MRGPRX3	11	18159591	Frame_Shift_Del	DEL	G	TCGA-A4-A57E-01A-11D-A26P-10	17064905	18159591	116846925	40	5594											
OR4C3	256144	hgsc.bcm.edu	37	11	48347236	48347236	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:48347236C>T	ENST00000319856.4	+	1	765	c.744C>T	c.(742-744)taC>taT	p.Y248Y		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCATCCTGTACTCCTTGAGGT	0.493																																																0													268	192	218					11																	48347236		2201	4298	6499	SO:0001819	synonymous_variant	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.744C>T	chr11.hg19:g.48347236C>T			B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	hg19	CCDS31489.1																																																																																				0.493	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		T	48347236	C	T	48347236	2	4	83	1	0	0	0	0	0	0	0	1	11052	576	20	2		2	OR4C3	11	48347236	Silent	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	30187645	48347236	86659280	41	5595											
RPS6KA4	8986	hgsc.bcm.edu	37	11	64136019	64136019	+	Missense_Mutation	SNP	G	G	A	rs199674030		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:64136019G>A	ENST00000334205.4	+	11	1345	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	RPS6KA4_ENST00000294261.4_Intron|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R420H	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	427	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTGTGTCGCCGCTGCCGCCAG	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		9970	0.0		0.001	False		,,,				2504	0.0															0								G	HIS/ARG,HIS/ARG	1,4357		0,1,2178	9	11	11		1262,1280	4.5	1	11		11	12,8514		0,12,4251	yes	missense,missense	RPS6KA4	NM_001006944.1,NM_003942.2	29,29	0,13,6429	AA,AG,GG		0.1407,0.0229,0.1009	probably-damaging,probably-damaging	421/767,427/773	64136019	13,12871	2179	4263	6442	SO:0001583	missense	8986			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1280G>A	chr11.hg19:g.64136019G>A	ENSP00000333896:p.Arg427His		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	hg19	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	17.24	3.339473	0.60963	2.29E-4	0.001407	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000530504	T;T;T	0.42513	0.97;0.97;0.97	4.5	4.5	0.54988	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.221656	0.37530	N	0.002053	T	0.47451	0.1446	L	0.33339	1.005	0.09310	N	0.999995	D;D;D	0.69078	0.963;0.997;0.984	P;D;P	0.65323	0.616;0.934;0.843	T	0.32214	-0.9915	10	0.72032	D	0.01	.	8.538	0.33375	0.108:0.0:0.892:0.0	.	420;427;421	E9PJN1;O75676;O75676-2	.;KS6A4_HUMAN;.	H	420;427;405	ENSP00000435580:R420H;ENSP00000333896:R427H;ENSP00000432945:R405H	ENSP00000333896:R427H	R	+	2	0	RPS6KA4	63892595	0.333000	0.24731	0.997000	0.53966	0.668000	0.39293	2.159000	0.42339	2.059000	0.61396	0.462000	0.41574	CGC		0.701	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		A	64136019	G	A	64136019	3	1	83	1	0	0	0	0	1	0	0	0	13659	1087	38	1	1322	1	RPS6KA4	11	64136019	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	15788783	64136019	70870497	42	5596											
FGF19	9965	hgsc.bcm.edu	37	11	69514314	69514314	+	Missense_Mutation	SNP	C	C	T	rs377419016		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:69514314C>T	ENST00000294312.3	-	3	1132	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	123					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			ATCTCCTCCTCGAAAGCACAG	0.562																																																0								C	LYS/GLU	0,4400		0,0,2200	51	47	48		367	2.8	1	11		48	1,8587	1.2+/-3.3	0,1,4293	no	missense	FGF19	NM_005117.2	56	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	123/217	69514314	1,12987	2200	4294	6494	SO:0001583	missense	9965			AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.367G>A	chr11.hg19:g.69514314C>T	ENSP00000294312:p.Glu123Lys			Missense_Mutation	SNP	ENST00000294312.3	hg19	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258639	0.23051	0.0	1.16E-4	ENSG00000162344	ENST00000294312	T	0.80304	-1.36	4.9	2.82	0.32997	.	0.379197	0.28659	N	0.014570	T	0.49423	0.1556	N	0.11341	0.13	0.34812	D	0.737793	P	0.40376	0.715	B	0.25759	0.063	T	0.61955	-0.6956	10	0.02654	T	1	-19.2795	7.4934	0.27475	0.0:0.7302:0.166:0.1038	.	123	O95750	FGF19_HUMAN	K	123	ENSP00000294312:E123K	ENSP00000294312:E123K	E	-	1	0	FGF19	69223495	0.833000	0.29383	0.979000	0.43373	0.961000	0.63080	1.017000	0.29989	0.323000	0.23307	0.555000	0.69702	GAG		0.562	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117		T	69514314	C	T	69514314	3	4	83	1	0	0	0	0	1	0	0	0	5849	893	31	1	287	1	FGF19	11	69514314	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	5378295	69514314	65492202	43	5597											
EXPH5	23086	hgsc.bcm.edu	37	11	108384826	108384826	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:108384826C>T	ENST00000265843.4	-	6	1518	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	EXPH5_ENST00000428840.1_Missense_Mutation_p.G394R|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.G282R|EXPH5_ENST00000525344.1_Missense_Mutation_p.G463R	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	470					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCTGTTCTCCGCTTCGTCCA	0.433																																																0													130	127	128					11																	108384826		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1408G>A	chr11.hg19:g.108384826C>T	ENSP00000265843:p.Gly470Arg		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	hg19	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	1.713	-0.498555	0.04291	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.03152	4.59;4.53;4.37;4.59;4.47;4.03	5.8	4.61	0.57282	.	0.279252	0.31461	N	0.007616	T	0.00815	0.0027	N	0.00104	-2.125	0.19945	N	0.999949	B	0.06786	0.001	B	0.06405	0.002	T	0.43877	-0.9364	10	0.02654	T	1	-6.2184	9.3795	0.38304	0.0:0.0824:0.0:0.9176	.	470	Q8NEV8	EXPH5_HUMAN	R	470;394;282;463;314;394;282	ENSP00000265843:G470R;ENSP00000391966:G394R;ENSP00000411390:G282R;ENSP00000432546:G463R;ENSP00000432683:G394R;ENSP00000446434:G282R	ENSP00000265843:G470R	G	-	1	0	EXPH5	107890036	0.012000	0.17670	0.950000	0.38849	0.930000	0.56654	0.504000	0.22626	1.011000	0.39340	-0.423000	0.05987	GGA		0.433	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		T	108384826	C	T	108384826	3	4	83	1	0	0	0	0	1	0	0	0	5324	661	23	1	4565	1	EXPH5	11	108384826	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	38870512	108384826	26621690	44	5598											
ABCG4	64137	hgsc.bcm.edu	37	11	119027153	119027153	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:119027153G>T	ENST00000449422.2	+	7	989	c.801G>T	c.(799-801)atG>atT	p.M267I	ABCG4_ENST00000307417.3_Missense_Mutation_p.M267I|ABCG4_ENST00000531739.1_Missense_Mutation_p.M267I	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	267	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCTTTGAGATGTTTGACAAGG	0.577																																																0													141	137	138					11																	119027153		2200	4295	6495	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.801G>T	chr11.hg19:g.119027153G>T	ENSP00000406874:p.Met267Ile		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	hg19	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255972	0.59321	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.34667	1.35;1.35;1.35	4.82	4.82	0.62117	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.037537	0.85682	D	0.000000	T	0.25382	0.0617	N	0.19112	0.55	0.80722	D	1	B	0.32245	0.361	B	0.25140	0.058	T	0.05971	-1.0853	10	0.38643	T	0.18	-32.7477	18.0972	0.89494	0.0:0.0:1.0:0.0	.	267	Q9H172	ABCG4_HUMAN	I	267	ENSP00000304111:M267I;ENSP00000406874:M267I;ENSP00000434318:M267I	ENSP00000304111:M267I	M	+	3	0	ABCG4	118532363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.808000	0.86044	2.502000	0.84385	0.655000	0.94253	ATG		0.577	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		T	119027153	G	T	119027153	3	4	83	1	0	0	0	0	1	0	0	0	70	1377	48	4	823	4	ABCG4	11	119027153	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	10642327	119027153	15979363	45	5599											
PIK3C2G	5288	hgsc.bcm.edu	37	12	18435382	18435382	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:18435382G>A	ENST00000266497.5	+	1	405	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E123K|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.E123K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E123K			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	123					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TACGAATAAAGAATGCTCCTG	0.398																																																0													69	69	69					12																	18435382		1829	4080	5909	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.367G>A	chr12.hg19:g.18435382G>A	ENSP00000266497:p.Glu123Lys		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	hg19	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.480900	0.44044	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.62788	1.35;-0.0;-0.0;-0.0	4.79	2.91	0.33838	.	.	.	.	.	T	0.44138	0.1279	N	0.24115	0.695	0.09310	N	1	B;B	0.31548	0.328;0.22	B;B	0.28011	0.085;0.039	T	0.15809	-1.0424	9	0.15952	T	0.53	-4.9931	11.4633	0.50223	0.0:0.3511:0.6488:0.0	.	123;123	F5H369;O75747	.;P3C2G_HUMAN	K	123	ENSP00000443850:E123K;ENSP00000404845:E123K;ENSP00000266497:E123K;ENSP00000445381:E123K	ENSP00000266497:E123K	E	+	1	0	PIK3C2G	18326649	0.022000	0.18835	0.006000	0.13384	0.083000	0.17756	0.866000	0.27954	0.897000	0.36392	0.655000	0.94253	GAA		0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		A	18435382	G	A	18435382	3	1	83	1	0	0	0	0	1	0	0	0	11913	943	33	2	369	2	PIK3C2G	12	18435382	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10		18435382	115416513	46	5600											
PKP2	5318	hgsc.bcm.edu	37	12	33031889	33031889	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:33031889G>A	ENST00000070846.6	-	2	325	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	PKP2_ENST00000340811.4_Missense_Mutation_p.R101C	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	101					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACAGGGGAACGGCCTCCAACA	0.378																																																0													96	91	93					12																	33031889		2203	4300	6503	SO:0001583	missense	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.301C>T	chr12.hg19:g.33031889G>A	ENSP00000070846:p.Arg101Cys		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	hg19	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126134	0.56721	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.81163	-1.46;-1.42	5.7	3.72	0.42706	.	1.351310	0.04721	N	0.419289	T	0.76076	0.3937	L	0.47716	1.5	0.09310	N	1	B;B;B	0.21381	0.055;0.033;0.033	B;B;B	0.10450	0.005;0.002;0.003	T	0.60835	-0.7184	10	0.52906	T	0.07	-0.1096	8.3857	0.32499	0.0822:0.0:0.7645:0.1533	.	101;101;101	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	C	101	ENSP00000342800:R101C;ENSP00000070846:R101C	ENSP00000070846:R101C	R	-	1	0	PKP2	32923156	0.000000	0.05858	0.010000	0.14722	0.864000	0.49448	0.261000	0.18442	2.679000	0.91253	0.650000	0.86243	CGT		0.378	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		A	33031889	G	A	33031889	3	1	83	1	0	0	0	0	1	0	0	0	11987	1116	39	1	2396	1	PKP2	12	33031889	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	14596507	33031889	100820006	47	5601											
KRT86	3892	hgsc.bcm.edu	37	12	52700004	52700004	+	Missense_Mutation	SNP	A	A	G	rs542735645		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:52700004A>G	ENST00000423955.2	+	9	1365	c.1187A>G	c.(1186-1188)aAg>aGg	p.K396R	KRT86_ENST00000544024.1_Missense_Mutation_p.K396R|KRT86_ENST00000293525.5_Missense_Mutation_p.K396R|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86	396	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGAACTCCAAGCTGGGCCTG	0.637											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	a|||	1	0.000199681	0.0	0.0014	5008	,	,		18796	0.0		0.0	False		,,,				2504	0.0															0													78	77	77					12																	52700004		2203	4295	6498	SO:0001583	missense	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1187A>G	chr12.hg19:g.52700004A>G	ENSP00000444533:p.Lys396Arg	987	P78387	Missense_Mutation	SNP	ENST00000423955.2	hg19	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.954205	0.92726	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.94376	-3.41;-3.41;-3.41	5.35	5.35	0.76521	Filament (1);	0.000000	0.43747	U	0.000525	D	0.97179	0.9078	M	0.91300	3.195	0.43399	D	0.99552	D	0.89917	1.0	D	0.80764	0.994	D	0.98008	1.0364	10	0.87932	D	0	.	13.9101	0.63862	1.0:0.0:0.0:0.0	.	396	O43790	KRT86_HUMAN	R	396	ENSP00000443169:K396R;ENSP00000444533:K396R;ENSP00000293525:K396R	ENSP00000293525:K396R	K	+	2	0	AC021066.1;KRT86	50986271	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.425000	0.80255	2.020000	0.59435	0.454000	0.30748	AAG		0.637	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		G	52700004	A	G	52700004	3	3	83	1	0	0	0	0	1	0	0	0	8502	72	3	3	1213	3	KRT86	12	52700004	Missense_Mutation	SNP	A	TCGA-A4-A57E-01A-11D-A26P-10	19668115	52700004	81151891	48	5602											
SRGAP1	57522	hgsc.bcm.edu	37	12	64491125	64491125	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:64491125G>C	ENST00000355086.3	+	15	2307	c.1783G>C	c.(1783-1785)Gaa>Caa	p.E595Q	SRGAP1_ENST00000357825.3_Missense_Mutation_p.E572Q|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E532Q|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	595	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTTCCTAAGGAAAGATTTAA	0.398																																																0													89	86	87					12																	64491125		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1783G>C	chr12.hg19:g.64491125G>C	ENSP00000347198:p.Glu595Gln		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	hg19	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095528	0.94197	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.48201	0.82;0.82;0.82	5.48	5.48	0.80851	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.36002	U	0.002860	T	0.62636	0.2444	L	0.53561	1.675	0.80722	D	1	P;P	0.52463	0.953;0.946	P;P	0.59825	0.864;0.786	T	0.57266	-0.7841	9	.	.	.	.	19.7379	0.96215	0.0:0.0:1.0:0.0	.	595;532	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	Q	595;572;532	ENSP00000347198:E595Q;ENSP00000350480:E572Q;ENSP00000437948:E532Q	.	E	+	1	0	SRGAP1	62777392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.748000	0.98867	2.733000	0.93635	0.655000	0.94253	GAA		0.398	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			C	64491125	G	C	64491125	3	2	83	1	0	0	0	0	1	0	0	0	15150	1175	41	4	1841	4	SRGAP1	12	64491125	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	11791121	64491125	69360770	49	5603											
C12orf12	196477	hgsc.bcm.edu	37	12	91347581	91347582	+	In_Frame_Ins	INS	-	-	TCT	rs374196591|rs558083520|rs376547014	byFrequency	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:91347581_91347582insTCT	ENST00000358859.2	-	1	1371_1372	c.938_939insAGA	c.(937-939)gag>gaAGAg	p.313_313E>EE	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	313	Glu-rich.																catcttcgacctcttcctcctc	0.535																																																0										20,4244		0,20,2112						1.8	0		dbSNP_107	204	107,8147		2,103,4022	no	coding	C12orf12	NM_152638.2		2,123,6134	A1A1,A1R,RR		1.2963,0.469,1.0145				127,12391				SO:0001652	inframe_insertion	196477			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.936_938dupAGA	chr12.hg19:g.91347582_91347584dupTCT	ENSP00000351727:p.Glu313dup		Q8TC47	In_Frame_Ins	INS	ENST00000358859.2	hg19	CCDS9036.1																																																																																				0.535	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		TCT	91347582	-	TCT	91347581	7	5	83	1	0	1	1	0	0	0	0	0	1678	680	24	0	285	0	C12orf12	12	91347581	In_Frame_Ins	INS	-	TCGA-A4-A57E-01A-11D-A26P-10	26856456	91347581	42504314	50	5604			1	13		2	2	13	N	A_-	3.178579e-05
C12orf12	196477	hgsc.bcm.edu	37	12	91347593	91347593	+	Missense_Mutation	SNP	A	A	C	rs137989103		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:91347593A>C	ENST00000358859.2	-	1	1360	c.927T>G	c.(925-927)gaT>gaG	p.D309E	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	309	Glu-rich.																cttcctcctcatcttcgacct	0.527																																																0													221	189	200					12																	91347593		2203	4300	6503	SO:0001583	missense	196477			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.927T>G	chr12.hg19:g.91347593A>C	ENSP00000351727:p.Asp309Glu		Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	hg19	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	A	0.040	-1.288355	0.01387	.	.	ENSG00000197651	ENST00000358859	T	0.15139	2.45	4.85	-9.69	0.00524	.	1.727330	0.03768	N	0.259267	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37934	-0.9684	10	0.02654	T	1	-2.4783	8.0014	0.30299	0.6481:0.1314:0.0:0.2205	.	309	Q8TC90	CL012_HUMAN	E	309	ENSP00000351727:D309E	ENSP00000351727:D309E	D	-	3	2	C12orf12	89871724	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.544000	0.06077	-1.269000	0.02436	0.378000	0.23410	GAT		0.527	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		C	91347593	A	C	91347593	3	2	83	1	0	0	0	0	1	0	0	0	1678	214	8	5	297	5	C12orf12	12	91347593	Missense_Mutation	SNP	A	TCGA-A4-A57E-01A-11D-A26P-10	12	91347593	42504302	51	5605			1	13		2	2	13	N	A_-	3.178579e-05
TBX5	6910	hgsc.bcm.edu	37	12	114841566	114841566	+	Silent	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:114841566G>A	ENST00000310346.4	-	2	804	c.138C>T	c.(136-138)ttC>ttT	p.F46F	TBX5_ENST00000526441.1_Silent_p.F46F|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000405440.2_Silent_p.F46F|TBX5_ENST00000552726.1_5'UTR	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	46				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCTGCTGGGTGAAGGCGGCCT	0.632																																					NSCLC(152;1358 1980 4050 23898 40356)											0													42	52	48					12																	114841566		2199	4299	6498	SO:0001819	synonymous_variant	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.138C>T	chr12.hg19:g.114841566G>A			A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	hg19	CCDS9173.1																																																																																				0.632	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		A	114841566	G	A	114841566	2	1	83	1	0	0	0	0	0	0	0	1	15666	1281	45	2		2	TBX5	12	114841566	Silent	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	23493973	114841566	19010329	52	5606											
LRRC43	254050	hgsc.bcm.edu	37	12	122669246	122669246	+	Silent	SNP	T	T	C	rs373684289		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:122669246T>C	ENST00000339777.4	+	2	359	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	111										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTGAGAGAATTGGCCATCCG	0.592													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20729	0.0		0.0	False		,,,				2504	0.0															0								T	,	1,3991		0,1,1995	51	53	52		331,	4.2	0.8	12		52	0,8312		0,0,4156	no	coding-synonymous,utr-5	LRRC43	NM_001098519.1,NM_152759.4	,	0,1,6151	CC,CT,TT		0.0,0.0251,0.0081	,	111/657,	122669246	1,12303	1996	4156	6152	SO:0001819	synonymous_variant	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.331T>C	chr12.hg19:g.122669246T>C			Q6ZVT9	Silent	SNP	ENST00000339777.4	hg19	CCDS45001.1																																																																																				0.592	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		C	122669246	T	C	122669246	2	2	83	1	0	0	0	0	0	0	0	1	9003	1490	52	3		3	LRRC43	12	122669246	Silent	SNP	T	TCGA-A4-A57E-01A-11D-A26P-10	7827680	122669246	11182649	53	5607											
DNAH10	196385	hgsc.bcm.edu	37	12	124335495	124335495	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:124335495G>A	ENST00000409039.3	+	34	5834	c.5809G>A	c.(5809-5811)Ggc>Agc	p.G1937S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1937	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATGAACCCCGGCTACGCAGG	0.582																																																0													40	45	44					12																	124335495		2155	4286	6441	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5809G>A	chr12.hg19:g.124335495G>A	ENSP00000386770:p.Gly1937Ser		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	35	5.476132	0.96291	.	.	ENSG00000197653	ENST00000409039	T	0.16743	2.32	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.000000	0.64402	U	0.000001	T	0.53546	0.1803	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64232	-0.6456	10	0.87932	D	0	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1937	Q8IVF4	DYH10_HUMAN	S	1937	ENSP00000386770:G1937S	ENSP00000386770:G1937S	G	+	1	0	DNAH10	122901448	1.000000	0.71417	0.956000	0.39512	0.972000	0.66771	8.010000	0.88615	2.576000	0.86940	0.655000	0.94253	GGC		0.582	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124335495	G	A	124335495	3	1	83	1	0	0	0	0	1	0	0	0	4600	1116	39	1	5943	1	DNAH10	12	124335495	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	1666249	124335495	9516400	54	5608											
BRI3BP	140707	hgsc.bcm.edu	37	12	125509696	125509696	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:125509696G>T	ENST00000341446.8	+	3	567	c.476G>T	c.(475-477)tGg>tTg	p.W159L		NM_080626.5	NP_542193.3			BRI3 binding protein									p.W159S(1)		large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CGCTTCTTCTGGATCGTGCGG	0.622																																																1	Substitution - Missense(1)	lung(1)											131	99	110					12																	125509696		2203	4300	6503	SO:0001583	missense	140707			AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.476G>T	chr12.hg19:g.125509696G>T	ENSP00000340761:p.Trp159Leu			Missense_Mutation	SNP	ENST00000341446.8	hg19	CCDS9262.1	.	.	.	.	.	.	.	.	.	.	g	29.4	5.001126	0.93227	.	.	ENSG00000184992	ENST00000341446	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79841	-0.1633	9	0.87932	D	0	-1.2314	18.495	0.90861	0.0:0.0:1.0:0.0	.	159	Q8WY22	BRI3B_HUMAN	L	159	.	ENSP00000340761:W159L	W	+	2	0	BRI3BP	124075649	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.284000	0.95882	2.344000	0.79699	0.556000	0.70494	TGG		0.622	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		T	125509696	G	T	125509696	3	4	83	1	0	0	0	0	1	0	0	0	1515	1357	47	4	486	4	BRI3BP	12	125509696	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	1174201	125509696	8342199	55	5609											
TBC1D4	9882	hgsc.bcm.edu	37	13	75923415	75923415	+	Silent	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr13:75923415C>A	ENST00000377636.3	-	5	1645	c.1299G>T	c.(1297-1299)ctG>ctT	p.L433L	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.L433L|TBC1D4_ENST00000431480.2_Silent_p.L433L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	433	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGGCCTGTTTCAGAGTCAGCA	0.473																																																0													57	58	58					13																	75923415		1948	4168	6116	SO:0001819	synonymous_variant	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1299G>T	chr13.hg19:g.75923415C>A			A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	hg19	CCDS41901.1																																																																																				0.473	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		A	75923415	C	A	75923415	2	1	83	1	0	0	0	0	0	0	0	1	15627	813	29	4		4	TBC1D4	13	75923415	Silent	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10		75923415	39246463	56	5610											
TEP1	7011	hgsc.bcm.edu	37	14	20846267	20846267	+	Silent	SNP	G	G	C	rs201698574		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:20846267G>C	ENST00000262715.5	-	39	5677	c.5637C>G	c.(5635-5637)gcC>gcG	p.A1879A	TEP1_ENST00000545983.1_Silent_p.A217A|TEP1_ENST00000556935.1_Silent_p.A1771A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1879					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGCAGGGAAGGCAGCCAGCC	0.632																																																0													87	85	86					14																	20846267		2203	4300	6503	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5637C>G	chr14.hg19:g.20846267G>C			A0AUV9	Silent	SNP	ENST00000262715.5	hg19	CCDS9548.1																																																																																				0.632	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		C	20846267	G	C	20846267	2	2	83	1	0	0	0	0	0	0	0	1	15764	987	35	4		4	TEP1	14	20846267	Silent	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10		20846267	86503273	57	5611											
KCNH5	27133	hgsc.bcm.edu	37	14	63447729	63447729	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:63447729G>A	ENST00000322893.7	-	6	1071	c.803C>T	c.(802-804)aCg>aTg	p.T268M	KCNH5_ENST00000394968.1_Missense_Mutation_p.T210M|KCNH5_ENST00000420622.2_Missense_Mutation_p.T268M|KCNH5_ENST00000394964.2_Missense_Mutation_p.T210M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	268					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CACGAAAGTCGTGTGAAAATT	0.423																																																0													70	71	71					14																	63447729		2203	4300	6503	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.803C>T	chr14.hg19:g.63447729G>A	ENSP00000321427:p.Thr268Met		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	hg19	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325830	0.81580	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.54	5.54	0.83059	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;1.0;1.0;1.0	D	0.98956	1.0796	10	0.87932	D	0	.	19.4888	0.95042	0.0:0.0:1.0:0.0	.	210;210;268;268	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	M	268;268;210;210	ENSP00000321427:T268M;ENSP00000395439:T268M;ENSP00000378419:T210M;ENSP00000378415:T210M	ENSP00000321427:T268M	T	-	2	0	KCNH5	62517482	1.000000	0.71417	0.992000	0.48379	0.740000	0.42216	9.799000	0.99117	2.607000	0.88179	0.585000	0.79938	ACG		0.423	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		A	63447729	G	A	63447729	3	1	83	1	0	0	0	0	1	0	0	0	8037	1145	40	1	2221	1	KCNH5	14	63447729	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	42601462	63447729	43901811	58	5612											
C14orf50	145376	hgsc.bcm.edu	37	14	65053588	65053588	+	Silent	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:65053588G>A	ENST00000298705.1	+	9	798	c.702G>A	c.(700-702)aaG>aaA	p.K234K	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	234					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AAGACTGGAAGTTCTTTGAGG	0.353																																																0													134	126	128					14																	65053588		2203	4300	6503	SO:0001819	synonymous_variant	145376				CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20097	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 50"	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.702G>A	chr14.hg19:g.65053588G>A			Q6NTH6	Silent	SNP	ENST00000298705.1	hg19	CCDS9767.1																																																																																				0.353	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		A	65053588	G	A	65053588	2	1	83	1	0	0	0	0	0	0	0	1	1779	1020	36	2		2	C14orf50	14	65053588	Silent	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	1605859	65053588	42295952	59	5613											
RIN3	79890	hgsc.bcm.edu	37	14	93117951	93117952	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:93117951_93117952insT	ENST00000216487.7	+	6	716_717	c.557_558insT	c.(556-561)cctccafs	p.P187fs	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	187					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCGCTGAATCCTCCACAAGAAA	0.629																																																0																																										SO:0001589	frameshift_variant	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.558dupT	chr14.hg19:g.93117952_93117952dupT	ENSP00000216487:p.Pro187fs		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Frame_Shift_Ins	INS	ENST00000216487.7	hg19	CCDS32144.1																																																																																				0.629	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			T	93117952	-	T	93117951	7	5	83	1	0	1	1	0	0	0	0	0	13379	681	24	0	579	0	RIN3	14	93117951	Frame_Shift_Ins	INS	-	TCGA-A4-A57E-01A-11D-A26P-10	28064363	93117951	14231589	60	5614											
RTL1	388015	hgsc.bcm.edu	37	14	101350131	101350136	+	In_Frame_Del	DEL	TCGTTG	TCGTTG	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	TCGTTG	TCGTTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:101350131_101350136delTCGTTG	ENST00000534062.1	-	1	1048_1053	c.990_995delCAACGA	c.(988-996)ctcaacgag>ctg	p.NE331del	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	331					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCTGATCTCCTCGTTGAGCCCCTGGC	0.563																																																0																																										SO:0001651	inframe_deletion	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.990_995delCAACGA	chr14.hg19:g.101350131_101350136delTCGTTG	ENSP00000435342:p.Asn331_Glu332del		E9PKS8	In_Frame_Del	DEL	ENST00000534062.1	hg19	CCDS53910.1																																																																																				0.563	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		-	101350136	TCGTTG	-	101350131	7	5	83	1	0	1	0	1	0	0	0	0	13730	1551	54	0	3085	0	RTL1	14	101350131	In_Frame_Del	DEL	TCGTTG	TCGA-A4-A57E-01A-11D-A26P-10	8232180	101350131	5999409	61	5615	55	2									
RTL1	388015	hgsc.bcm.edu	37	14	101350138	101350138	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:101350138delG	ENST00000534062.1	-	1	1046	c.988delC	c.(988-990)ctcfs	p.L330fs	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	330					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCCTCGTTGAGCCCCTGGCAC	0.572																																																0													70	67	68					14																	101350138		692	1591	2283	SO:0001589	frameshift_variant	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.988delC	chr14.hg19:g.101350138delG	ENSP00000435342:p.Leu330fs		E9PKS8	Frame_Shift_Del	DEL	ENST00000534062.1	hg19	CCDS53910.1																																																																																				0.572	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		-	101350138	G	-	101350138	7	5	83	1	0	1	0	1	0	0	0	0	13730	971	34	0	3092	0	RTL1	14	101350138	Frame_Shift_Del	DEL	G	TCGA-A4-A57E-01A-11D-A26P-10	7	101350138	5999402	62	5616	55	2									
ARHGAP11A	9824	hgsc.bcm.edu	37	15	32929467	32929467	+	Silent	SNP	T	T	C	rs373558097		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr15:32929467T>C	ENST00000361627.3	+	12	3215	c.2493T>C	c.(2491-2493)ctT>ctC	p.L831L	ARHGAP11A_ENST00000565905.1_Silent_p.L642L|ARHGAP11A_ENST00000543522.1_Silent_p.L642L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	831					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGTCACCTCTTAAGTTTCAGC	0.388																																					Colon(45;757 1134 30003 36652)											0													99	103	101					15																	32929467		2201	4300	6501	SO:0001819	synonymous_variant	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2493T>C	chr15.hg19:g.32929467T>C			B4DZN9|Q6PI96|Q9Y3S6	Silent	SNP	ENST00000361627.3	hg19	CCDS10028.1																																																																																				0.388	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		C	32929467	T	C	32929467	2	2	83	1	0	0	0	0	0	0	0	1	863	1741	61	3		3	ARHGAP11A	15	32929467	Silent	SNP	T	TCGA-A4-A57E-01A-11D-A26P-10		32929467	69601925	63	5617											
ZNF770	54989	hgsc.bcm.edu	37	15	35275620	35275620	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr15:35275620T>A	ENST00000356321.4	-	3	360	c.16A>T	c.(16-18)Aat>Tat	p.N6Y		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	6					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTTTTAAATTGTTTTCAGCC	0.313																																																0													68	62	64					15																	35275620		2201	4298	6499	SO:0001583	missense	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.16A>T	chr15.hg19:g.35275620T>A	ENSP00000348673:p.Asn6Tyr		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	hg19	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	4.657	0.122204	0.08931	.	.	ENSG00000198146	ENST00000356321	T	0.09538	2.97	4.27	3.14	0.36123	.	0.420309	0.21769	N	0.069391	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.32481	-0.9905	10	0.66056	D	0.02	-8.2947	0.8062	0.01084	0.1598:0.1796:0.1664:0.4942	.	6	Q6IQ21	ZN770_HUMAN	Y	6	ENSP00000348673:N6Y	ENSP00000348673:N6Y	N	-	1	0	ZNF770	33062912	1.000000	0.71417	0.962000	0.40283	0.306000	0.27790	1.749000	0.38319	0.959000	0.37980	-0.297000	0.09499	AAT		0.313	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		A	35275620	T	A	35275620	3	1	83	1	0	0	0	0	1	0	0	0	18148	1812	63	5	2063	5	ZNF770	15	35275620	Missense_Mutation	SNP	T	TCGA-A4-A57E-01A-11D-A26P-10	2346153	35275620	67255772	64	5618											
PRTG	283659	hgsc.bcm.edu	37	15	55931987	55931988	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr15:55931987_55931988insC	ENST00000389286.4	-	13	2223_2224	c.2176_2177insG	c.(2176-2178)cacfs	p.H726fs		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATAGAGATGGTGGGGTGGTGGT	0.455																																																0																																										SO:0001589	frameshift_variant	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2176_2177insG	chr15.hg19:g.55931987_55931988insC	ENSP00000373937:p.His726fs			Frame_Shift_Ins	INS	ENST00000389286.4	hg19	CCDS42040.1																																																																																				0.455	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		C	55931988	-	C	55931987	7	5	83	1	0	1	1	0	0	0	0	0	12643	1696	59	0	1307	0	PRTG	15	55931987	Frame_Shift_Ins	INS	-	TCGA-A4-A57E-01A-11D-A26P-10	20656367	55931987	46599405	65	5619	56	3									
PRTG	283659	hgsc.bcm.edu	37	15	55931988	55931989	+	In_Frame_Ins	INS	-	-	GGTGGT			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr15:55931988_55931989insGGTGGT	ENST00000389286.4	-	13	2222_2223	c.2175_2176insACCACC	c.(2173-2178)ccccac>cccACCACCcac	p.725_726PH>PTTH		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TAGAGATGGTGGGGTGGTGGTG	0.455																																																0																																										SO:0001652	inframe_insertion	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2175_2176insACCACC	chr15.hg19:g.55931988_55931989insGGTGGT	ENSP00000373937:p.Pro725_His726insThrThr			In_Frame_Ins	INS	ENST00000389286.4	hg19	CCDS42040.1																																																																																				0.455	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		GGTGGT	55931989	-	GGTGGT	55931988	7	5	83	1	0	1	1	0	0	0	0	0	12643	1348	47	0	1308	0	PRTG	15	55931988	In_Frame_Ins	INS	-	TCGA-A4-A57E-01A-11D-A26P-10	1	55931988	46599404	66	5620	56	3									
PRTG	283659	hgsc.bcm.edu	37	15	55931991	55931992	+	Frame_Shift_Ins	INS	-	-	TGGTGGG			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr15:55931991_55931992insTGGTGGG	ENST00000389286.4	-	13	2219_2220	c.2172_2173insCCCACCA	c.(2170-2175)ccacccfs	p.-725fs		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGATGGTGGGGTGGTGGTGGAG	0.45																																																0																																										SO:0001589	frameshift_variant	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2172_2173insCCCACCA	chr15.hg19:g.55931991_55931992insTGGTGGG	ENSP00000373937:p.Pro725fs			Frame_Shift_Ins	INS	ENST00000389286.4	hg19	CCDS42040.1																																																																																				0.45	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		TGGTGGG	55931992	-	TGGTGGG	55931991	7	5	83	1	0	1	1	0	0	0	0	0	12643	1261	44	0	1311	0	PRTG	15	55931991	Frame_Shift_Ins	INS	-	TCGA-A4-A57E-01A-11D-A26P-10	3	55931991	46599401	67	5621	56	3									
ARMC5	79798	hgsc.bcm.edu	37	16	31473812	31473812	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr16:31473812G>A	ENST00000563544.1	+	4	1490	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	ARMC5_ENST00000268314.4_Missense_Mutation_p.R315Q|ARMC5_ENST00000457010.2_Missense_Mutation_p.R315Q|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_Missense_Mutation_p.R347Q|ARMC5_ENST00000408912.3_Missense_Mutation_p.R410Q|RP11-452L6.5_ENST00000564629.1_RNA			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	315										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGCCTGATTCGGCCTGCACTG	0.652																																																0													33	37	36					16																	31473812		2058	4214	6272	SO:0001583	missense	79798			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.944G>A	chr16.hg19:g.31473812G>A	ENSP00000456877:p.Arg315Gln		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	hg19	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	g	19.23	3.787652	0.70337	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.51	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.996	T	0.35968	-0.9767	10	0.54805	T	0.06	-20.0021	14.7442	0.69477	0.0:0.0:1.0:0.0	.	347;410;315;315	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	Q	410;347;315;315	ENSP00000386125:R410Q;ENSP00000443995:R347Q;ENSP00000268314:R315Q;ENSP00000399561:R315Q	ENSP00000268314:R315Q	R	+	2	0	ARMC5	31381313	1.000000	0.71417	0.970000	0.41538	0.216000	0.24613	5.851000	0.69481	2.060000	0.61445	0.450000	0.29827	CGG		0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		A	31473812	G	A	31473812	3	1	83	1	0	0	0	0	1	0	0	0	954	1116	39	1	954	1	ARMC5	16	31473812	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10		31473812	58880941	68	5622											
TMCO7	79613	hgsc.bcm.edu	37	16	68941414	68941414	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr16:68941414G>T	ENST00000261778.1	+	10	1748	c.1736G>T	c.(1735-1737)gGg>gTg	p.G579V		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	579						integral component of membrane (GO:0016021)											GAGCATCTCGGGGACTTGCTG	0.488																																																0													93	92	92					16																	68941414		1892	4105	5997	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1736G>T	chr16.hg19:g.68941414G>T	ENSP00000261778:p.Gly579Val		Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	hg19	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982626	0.34942	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.95	3.84	0.44239	Armadillo-type fold (1);	0.334836	0.36444	N	0.002597	T	0.30541	0.0768	N	0.11724	0.165	0.51012	D	0.999904	B	0.19706	0.038	B	0.17433	0.018	T	0.08391	-1.0724	9	0.12766	T	0.61	-9.4786	11.0925	0.48123	0.0:0.0:0.5339:0.4661	.	579	Q9C0B7	TMCO7_HUMAN	V	579	.	ENSP00000261778:G579V	G	+	2	0	TMCO7	67498915	1.000000	0.71417	0.996000	0.52242	0.835000	0.47333	2.559000	0.45888	1.483000	0.48342	0.655000	0.94253	GGG		0.488	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		T	68941414	G	T	68941414	3	4	83	1	0	0	0	0	1	0	0	0	16006	1232	43	4	1774	4	TMCO7	16	68941414	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	37467602	68941414	21413339	69	5623											
AP1G1	164	hgsc.bcm.edu	37	16	71779166	71779166	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr16:71779166T>G	ENST00000299980.4	-	19	2321	c.1880A>C	c.(1879-1881)gAt>gCt	p.D627A	AP1G1_ENST00000569748.1_Missense_Mutation_p.D627A|AP1G1_ENST00000433195.2_Missense_Mutation_p.D650A|AP1G1_ENST00000393512.3_Missense_Mutation_p.D630A|AP1G1_ENST00000423132.2_Missense_Mutation_p.D630A|AP1G1_ENST00000564155.1_Missense_Mutation_p.D52A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	627					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATCCAATAAATCATTGGCCTA	0.358																																																0													87	81	83					16																	71779166		2198	4300	6498	SO:0001583	missense	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1880A>C	chr16.hg19:g.71779166T>G	ENSP00000299980:p.Asp627Ala		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	hg19	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579662	0.28180	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.15718	2.41;2.41;2.42;2.4	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.10551	0.0258	N	0.13198	0.31	0.80722	D	1	B;B;B	0.14012	0.001;0.002;0.009	B;B;B	0.17098	0.001;0.004;0.017	T	0.11542	-1.0583	10	0.08599	T	0.76	-12.6522	15.3832	0.74676	0.0:0.0:0.0:1.0	.	627;650;630	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	A	627;630;630;650	ENSP00000299980:D627A;ENSP00000377148:D630A;ENSP00000409153:D630A;ENSP00000403259:D650A	ENSP00000299980:D627A	D	-	2	0	AP1G1	70336667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.054000	0.61138	0.459000	0.35465	GAT		0.358	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			G	71779166	T	G	71779166	3	3	83	1	0	0	0	0	1	0	0	0	732	1435	50	5	608	5	AP1G1	16	71779166	Missense_Mutation	SNP	T	TCGA-A4-A57E-01A-11D-A26P-10	2837752	71779166	18575587	70	5624											
WDR81	124997	hgsc.bcm.edu	37	17	1630298	1630298	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr17:1630298C>T	ENST00000409644.1	+	1	2045	c.2045C>T	c.(2044-2046)tCc>tTc	p.S682F	WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	682					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGGCTCCTCCAGTCAAGCG	0.607																																																0													12	14	14					17																	1630298		691	1588	2279	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.2045C>T	chr17.hg19:g.1630298C>T	ENSP00000386609:p.Ser682Phe		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	hg19	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	2.791	-0.251404	0.05867	.	.	ENSG00000167716	ENST00000409644	T	0.56444	0.46	5.5	4.5	0.54988	.	.	.	.	.	T	0.52158	0.1717	.	.	.	0.29534	N	0.85255	.	.	.	.	.	.	T	0.50180	-0.8858	6	0.37606	T	0.19	.	11.6034	0.51017	0.0:0.8056:0.1247:0.0697	.	.	.	.	F	682	ENSP00000386609:S682F	ENSP00000386609:S682F	S	+	2	0	WDR81	1577048	0.044000	0.20184	0.251000	0.24312	0.026000	0.11368	0.643000	0.24750	2.580000	0.87095	0.561000	0.74099	TCC		0.607	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		T	1630298	C	T	1630298	3	4	83	1	0	0	0	0	1	0	0	0	17335	855	30	2	2109	2	WDR81	17	1630298	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10		1630298	79564912	71	5625											
TP53	7157	hgsc.bcm.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	C	rs397516437|rs28934573		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr17:7577559G>C	ENST00000269305.4	-	7	911	c.722C>G	c.(721-723)tCc>tGc	p.S241C	TP53_ENST00000413465.2_Missense_Mutation_p.S241C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.S241C|TP53_ENST00000420246.2_Missense_Mutation_p.S241C|TP53_ENST00000455263.2_Missense_Mutation_p.S241C|TP53_ENST00000359597.4_Missense_Mutation_p.S241C	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and 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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	GRCh37	CM920673	TP53	M	rs28934573						139	108	118					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>G	chr17.hg19:g.7577559G>C	ENSP00000269305:p.Ser241Cys		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	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276619	0.59758	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.51233	D	0.999916	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;0.999	D	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241C;ENSP00000352610:S241C;ENSP00000269305:S241C;ENSP00000398846:S241C;ENSP00000391127:S241C;ENSP00000391478:S241C;ENSP00000425104:S109C;ENSP00000423862:S148C	ENSP00000269305:S241C	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577559	G	C	7577559	3	2	83	1	0	0	0	0	1	0	0	0	16386	1174	41	4	568	4	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	5947261	7577559	73617651	72	5626											
SSH2	85464	hgsc.bcm.edu	37	17	27958146	27958146	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr17:27958146T>C	ENST00000269033.3	-	15	4136	c.3985A>G	c.(3985-3987)Aca>Gca	p.T1329A	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.T1356A	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1329					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTGTTGTTGTGAGTTGT	0.532																																																0													57	50	52					17																	27958146		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3985A>G	chr17.hg19:g.27958146T>C	ENSP00000269033:p.Thr1329Ala		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	hg19	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.576881	0.45902	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.58506	0.33;0.33	6.17	6.17	0.99709	.	0.593826	0.17897	N	0.158323	T	0.58509	0.2127	M	0.64997	1.995	0.80722	D	1	P;P	0.41131	0.739;0.622	B;B	0.40782	0.34;0.183	T	0.62234	-0.6897	10	0.59425	D	0.04	-13.774	13.2295	0.59933	0.0:0.0:0.1323:0.8677	.	1356;1329	F5H527;Q76I76	.;SSH2_HUMAN	A	1329;1356	ENSP00000269033:T1329A;ENSP00000444743:T1356A	ENSP00000269033:T1329A	T	-	1	0	SSH2	24982272	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	2.987000	0.49378	2.371000	0.80710	0.533000	0.62120	ACA		0.532	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		C	27958146	T	C	27958146	3	2	83	1	0	0	0	0	1	0	0	0	15190	1725	60	3	290	3	SSH2	17	27958146	Missense_Mutation	SNP	T	TCGA-A4-A57E-01A-11D-A26P-10	20380587	27958146	53237064	73	5627											
CCDC55	84081	hgsc.bcm.edu	37	17	28512533	28512533	+	Silent	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr17:28512533G>T	ENST00000247026.5	+	7	1581	c.1518G>T	c.(1516-1518)ggG>ggT	p.G506G	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	506					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CAGAGGAAGGGCAAGAGAAGG	0.433																																																0													103	101	102					17																	28512533		2203	4300	6503	SO:0001819	synonymous_variant	84081			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1518G>T	chr17.hg19:g.28512533G>T			Q6FI71	Silent	SNP	ENST00000247026.5	hg19	CCDS11255.1																																																																																				0.433	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		T	28512533	G	T	28512533	2	4	83	1	0	0	0	0	0	0	0	1	2827	1190	42	4		4	CCDC55	17	28512533	Silent	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	554387	28512533	52682677	74	5628											
SAMD14	201191	hgsc.bcm.edu	37	17	48191564	48191565	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr17:48191564_48191565delTG	ENST00000330175.4	-	8	1245_1246	c.928_929delCA	c.(928-930)cagfs	p.Q310fs	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Frame_Shift_Del_p.Q338fs	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	310								p.Q338P(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						ATCTGAAGACTGAGACAGCGTG	0.624																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	201191				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.928_929delCA	chr17.hg19:g.48191564_48191565delTG	ENSP00000329144:p.Gln310fs		A5D8V1|Q8N2X0	Frame_Shift_Del	DEL	ENST00000330175.4	hg19	CCDS58562.1																																																																																				0.624	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		-	48191565	TG	-	48191564	7	5	83	1	0	1	0	1	0	0	0	0	13825	1580	55	0	336	0	SAMD14	17	48191564	Frame_Shift_Del	DEL	TG	TCGA-A4-A57E-01A-11D-A26P-10	19679031	48191564	33003646	75	5629											
TPM4	7171	hgsc.bcm.edu	37	19	16199862	16199862	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:16199862delG	ENST00000300933.4	+	5	723	c.463delG	c.(463-465)ggtfs	p.G155fs	TPM4_ENST00000538887.1_Frame_Shift_Del_p.G191fs|TPM4_ENST00000344824.6_Frame_Shift_Del_p.G191fs	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	155					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						CAGAAAATGTGGTGACCTGGA	0.428			T	ALK	ALCL						OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		19	19p13.1	7171	tropomyosin 4		L	0													125	113	117					19																	16199862		2203	4300	6503	SO:0001589	frameshift_variant	7171				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"Tropomyosins"	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.463delG	chr19.hg19:g.16199862delG	ENSP00000300933:p.Gly155fs	708	P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Frame_Shift_Del	DEL	ENST00000300933.4	hg19	CCDS12338.1																																																																																				0.428	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290		-	16199862	G	-	16199862	7	5	83	1	0	1	0	1	0	0	0	0	16413	1348	47	0	729	0	TPM4	19	16199862	Frame_Shift_Del	DEL	G	TCGA-A4-A57E-01A-11D-A26P-10		16199862	42929121	76	5630											
YJEFN3	374887	hgsc.bcm.edu	37	19	19640278	19640278	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:19640278G>T	ENST00000514277.4	+	2	203	c.165G>T	c.(163-165)caG>caT	p.Q55H	CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000436027.5_Intron|YJEFN3_ENST00000608404.1_Intron|CTC-260F20.3_ENST00000555938.1_Intron|NDUFA13_ENST00000512771.3_Missense_Mutation_p.Q177H	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	55										NS(1)|breast(1)|lung(3)	5						GGGGAAGGCAGTCATGGCTAG	0.577																																																0													53	58	56					19																	19640278		2035	4179	6214	SO:0001583	missense	374887				CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.165G>T	chr19.hg19:g.19640278G>T	ENSP00000426964:p.Gln55His		A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	hg19	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	G	9.605	1.129720	0.21041	.	.	ENSG00000250067	ENST00000397179;ENST00000514277	T	0.48201	0.82	2.12	2.12	0.27331	.	.	.	.	.	T	0.20981	0.0505	N	0.08118	0	0.58432	D	0.999999	P;B	0.39831	0.69;0.191	B;B	0.35353	0.201;0.008	T	0.02991	-1.1085	9	0.15952	T	0.53	.	7.8598	0.29504	0.0:0.0:1.0:0.0	.	177;55	B4DF76;A6XGL0	.;YJEN3_HUMAN	H	55	ENSP00000426964:Q55H	ENSP00000380364:Q55H	Q	+	3	2	YJEFN3	19501278	0.071000	0.21146	0.059000	0.19551	0.062000	0.15995	1.327000	0.33746	1.530000	0.49136	0.555000	0.69702	CAG		0.577	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		T	19640278	G	T	19640278	3	4	83	1	0	0	0	0	1	0	0	0	17489	1020	36	4	171	4	YJEFN3	19	19640278	Missense_Mutation	SNP	G	TCGA-A4-A57E-01A-11D-A26P-10	3440416	19640278	39488705	77	5631											
TSHZ3	57616	hgsc.bcm.edu	37	19	31769063	31769063	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:31769063C>T	ENST00000240587.4	-	2	1963	c.1636G>A	c.(1636-1638)Ggc>Agc	p.G546S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTGGGATAGCCCCCCCAGCTA	0.557																																																0													120	120	120					19																	31769063		2203	4300	6503	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1636G>A	chr19.hg19:g.31769063C>T	ENSP00000240587:p.Gly546Ser		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	hg19	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689081	0.88735	.	.	ENSG00000121297	ENST00000240587	T	0.59502	0.26	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77054	-0.2730	10	0.72032	D	0.01	-41.0424	19.1896	0.93660	0.0:1.0:0.0:0.0	.	546	Q63HK5	TSH3_HUMAN	S	546	ENSP00000240587:G546S	ENSP00000240587:G546S	G	-	1	0	TSHZ3	36460903	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.461000	0.80834	2.519000	0.84933	0.655000	0.94253	GGC		0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		T	31769063	C	T	31769063	3	4	83	1	0	0	0	0	1	0	0	0	16630	623	22	2	1613	2	TSHZ3	19	31769063	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	12128785	31769063	27359920	78	5632											
RYR1	6261	hgsc.bcm.edu	37	19	39019255	39019255	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:39019255A>T	ENST00000359596.3	+	75	10954	c.10954A>T	c.(10954-10956)Atg>Ttg	p.M3652L	RYR1_ENST00000355481.4_Missense_Mutation_p.M3647L|RYR1_ENST00000360985.3_Missense_Mutation_p.M3652L|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3652					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCATGTAACATGTTCCTGGA	0.612																																																0													106	87	93					19																	39019255		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10954A>T	chr19.hg19:g.39019255A>T	ENSP00000352608:p.Met3652Leu		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.262183	0.39995	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.95518	-3.73;-3.73;-3.73	5.43	5.43	0.79202	.	0.000000	0.85682	U	0.000000	D	0.88901	0.6563	N	0.16307	0.4	0.36251	D	0.853928	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.10450	0.005;0.001;0.001	D	0.84199	0.0449	10	0.02654	T	1	.	14.4595	0.67440	1.0:0.0:0.0:0.0	.	3652;3647;3652	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	L	3652;3647;3652;572	ENSP00000352608:M3652L;ENSP00000347667:M3647L;ENSP00000354254:M3652L	ENSP00000347667:M3647L	M	+	1	0	RYR1	43711095	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.641000	0.46587	2.074000	0.62210	0.459000	0.35465	ATG		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39019255	A	T	39019255	3	4	83	1	0	0	0	0	1	0	0	0	13774	217	8	5	11252	5	RYR1	19	39019255	Missense_Mutation	SNP	A	TCGA-A4-A57E-01A-11D-A26P-10	7250192	39019255	20109728	79	5633											
POLD1	5424	hgsc.bcm.edu	37	19	50918079	50918079	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:50918079T>A	ENST00000440232.2	+	20	2449	c.2396T>A	c.(2395-2397)tTc>tAc	p.F799Y	POLD1_ENST00000595904.1_Missense_Mutation_p.F825Y|POLD1_ENST00000599857.1_Missense_Mutation_p.F799Y|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	799					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CAGGTCTACTTCCCATACCTG	0.642								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													55	54	54					19																	50918079		2203	4300	6503	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2396T>A	chr19.hg19:g.50918079T>A	ENSP00000406046:p.Phe799Tyr	973	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	hg19	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657494	0.47467	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.16597	2.33	4.84	4.84	0.62591	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.060647	0.64402	D	0.000003	T	0.12305	0.0299	N	0.17764	0.52	0.46521	D	0.999085	B;B	0.12013	0.005;0.002	B;B	0.20384	0.029;0.013	T	0.10636	-1.0621	10	0.27785	T	0.31	-24.2344	13.7358	0.62817	0.0:0.0:0.0:1.0	.	825;799	E7EVW0;P28340	.;DPOD1_HUMAN	Y	799;800	ENSP00000406046:F799Y	ENSP00000366129:F800Y	F	+	2	0	POLD1	55609891	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.937000	0.48979	1.970000	0.57323	0.449000	0.29647	TTC		0.642	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			A	50918079	T	A	50918079	3	1	83	1	0	0	0	0	1	0	0	0	12192	1783	62	5	2470	5	POLD1	19	50918079	Missense_Mutation	SNP	T	TCGA-A4-A57E-01A-11D-A26P-10	11898824	50918079	8210904	80	5634											
ZNF548	147694	hgsc.bcm.edu	37	19	57908473	57908473	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:57908473C>T	ENST00000366197.5	+	2	323	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F	ZNF548_ENST00000336128.7_Missense_Mutation_p.L37F|AC003002.6_ENST00000596400.1_Intron|AC003002.4_ENST00000597658.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000597400.1_Missense_Mutation_p.L37F|ZNF548_ENST00000598895.1_Missense_Mutation_p.L37F|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGGGGCACCTTGATGAGGC	0.512																																																0													377	349	358					19																	57908473		2203	4300	6503	SO:0001583	missense	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.73C>T	chr19.hg19:g.57908473C>T	ENSP00000379482:p.Leu25Phe		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	hg19	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220274	0.58560	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.18960	2.18;2.18	2.55	2.55	0.30701	Krueppel-associated box (4);	.	.	.	.	T	0.61640	0.2363	H	0.99286	4.5	0.21782	N	0.999543	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.55933	-0.8062	9	0.66056	D	0.02	.	8.7465	0.34589	0.0:1.0:0.0:0.0	.	37;25	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	F	37;25	ENSP00000337555:L37F;ENSP00000379482:L25F	ENSP00000337555:L37F	L	+	1	0	ZNF548	62600285	0.277000	0.24220	0.716000	0.30569	0.995000	0.86356	1.271000	0.33098	1.763000	0.52060	0.563000	0.77884	CTT		0.512	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		T	57908473	C	T	57908473	3	4	83	1	0	0	0	0	1	0	0	0	17985	681	24	2	119	2	ZNF548	19	57908473	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	6990394	57908473	1220510	81	5635											
PAK7	57144	hgsc.bcm.edu	37	20	9525075	9525075	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr20:9525075C>A	ENST00000378429.3	-	9	2356	c.1810G>T	c.(1810-1812)Gtt>Ttt	p.V604F	PAK7_ENST00000378423.1_Missense_Mutation_p.V604F|PAK7_ENST00000353224.5_Missense_Mutation_p.V604F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> I (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V604I(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGAGTGCCAACCAATGATTTC	0.478																																																1	Substitution - Missense(1)	skin(1)											121	111	114					20																	9525075		2203	4300	6503	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1810G>T	chr20.hg19:g.9525075C>A	ENSP00000367686:p.Val604Phe		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	hg19	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	35	5.415885	0.96092	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	T;T;T	0.70282	-0.47;-0.47;-0.47	5.97	5.97	0.96955	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86736	0.6004	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86251	0.1649	9	.	.	.	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	604	Q9P286	PAK7_HUMAN	F	604	ENSP00000367686:V604F;ENSP00000322957:V604F;ENSP00000367679:V604F	.	V	-	1	0	PAK7	9473075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.768000	0.85345	2.836000	0.97738	0.655000	0.94253	GTT		0.478	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			A	9525075	C	A	9525075	3	1	83	1	0	0	0	0	1	0	0	0	11407	507	18	4	361	4	PAK7	20	9525075	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10		9525075	53500445	82	5636											
KIAA1755	85449	hgsc.bcm.edu	37	20	36869309	36869309	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr20:36869309C>A	ENST00000279024.4	-	3	1495	c.1224G>T	c.(1222-1224)gaG>gaT	p.E408D		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	408										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCACCATATTCTCTGGGTTTC	0.577																																																0													67	67	67					20																	36869309		2203	4300	6503	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1224G>T	chr20.hg19:g.36869309C>A	ENSP00000279024:p.Glu408Asp		Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	hg19	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582898	0.28268	.	.	ENSG00000149633	ENST00000279024	T	0.61040	0.14	4.64	0.4	0.16331	.	0.300502	0.24046	N	0.042048	T	0.62221	0.2410	M	0.67953	2.075	0.09310	N	1	D	0.67145	0.996	P	0.58266	0.836	T	0.53823	-0.8384	10	0.30078	T	0.28	.	7.1114	0.25392	0.0:0.5955:0.0:0.4045	.	408	Q5JYT7	K1755_HUMAN	D	408	ENSP00000279024:E408D	ENSP00000279024:E408D	E	-	3	2	KIAA1755	36302723	0.001000	0.12720	0.026000	0.17262	0.036000	0.12997	-0.298000	0.08265	-0.072000	0.12864	0.655000	0.94253	GAG		0.577	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		A	36869309	C	A	36869309	3	1	83	1	0	0	0	0	1	0	0	0	8259	912	32	4	2426	4	KIAA1755	20	36869309	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10	27344234	36869309	26156211	83	5637											
SGK2	10110	hgsc.bcm.edu	37	20	42199308	42199308	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr20:42199308T>C	ENST00000341458.4	+	6	811	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000373092.3_Missense_Mutation_p.F138L|SGK2_ENST00000426287.1_Missense_Mutation_p.F164L|SGK2_ENST00000423407.3_Missense_Mutation_p.F138L|SGK2_ENST00000373077.1_Missense_Mutation_p.F137L|SGK2_ENST00000373100.1_Missense_Mutation_p.F138L	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGGGCCAGGTTCTACGCTGC	0.627																																																0													57	60	59					20																	42199308		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.592T>C	chr20.hg19:g.42199308T>C	ENSP00000340608:p.Phe198Leu		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	hg19	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	T	34	5.328708	0.95733	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75243	0.3823	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77448	-0.2584	10	0.62326	D	0.03	.	14.235	0.65919	0.0:0.0:0.0:1.0	.	164;198;138	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	L	138;138;137;137;138;198;164	ENSP00000362192:F138L;ENSP00000362184:F138L;ENSP00000362168:F137L;ENSP00000396222:F137L;ENSP00000392795:F138L;ENSP00000340608:F198L;ENSP00000412214:F164L	ENSP00000340608:F198L	F	+	1	0	SGK2	41632722	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.860000	0.86993	2.148000	0.66965	0.533000	0.62120	TTC		0.627	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			C	42199308	T	C	42199308	3	2	83	1	0	0	0	0	1	0	0	0	14215	1725	60	3	614	3	SGK2	20	42199308	Missense_Mutation	SNP	T	TCGA-A4-A57E-01A-11D-A26P-10	5329999	42199308	20826212	84	5638											
SREBF2	6721	hgsc.bcm.edu	37	22	42289163	42289163	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr22:42289163C>A	ENST00000361204.4	+	12	2417	c.2251C>A	c.(2251-2253)Cac>Aac	p.H751N	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	751					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TGGCCCCGAGCACAGTGCTGT	0.612																																																0													77	77	77					22																	42289163		2203	4300	6503	SO:0001583	missense	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2251C>A	chr22.hg19:g.42289163C>A	ENSP00000354476:p.His751Asn		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	hg19	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	5.682	0.310364	0.10733	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.07216	3.21	5.42	4.36	0.52297	.	0.494236	0.23861	N	0.043856	T	0.03959	0.0111	N	0.03608	-0.345	0.26458	N	0.975491	B	0.14438	0.01	B	0.11329	0.006	T	0.39440	-0.9614	10	0.14252	T	0.57	-3.4319	13.8968	0.63778	0.1516:0.8484:0.0:0.0	.	751	Q12772	SRBP2_HUMAN	N	751	ENSP00000354476:H751N	ENSP00000354476:H751N	H	+	1	0	SREBF2	40619109	0.993000	0.37304	0.234000	0.24042	0.412000	0.31113	2.219000	0.42899	2.543000	0.85770	0.650000	0.86243	CAC		0.612	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		A	42289163	C	A	42289163	3	1	83	1	0	0	0	0	1	0	0	0	15147	710	25	4	2297	4	SREBF2	22	42289163	Missense_Mutation	SNP	C	TCGA-A4-A57E-01A-11D-A26P-10		42289163	9015403	85	5639											
TAS1R1	80835	hgsc.bcm.edu	37	1	6639633	6639633	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:6639633G>A	ENST00000333172.6	+	6	2708	c.2515G>A	c.(2515-2517)Ggc>Agc	p.G839S	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.G585S|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	839					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCGCTGCGGCTCCACCTG	0.632																																																0													41	41	41					1																	6639633		2203	4299	6502	SO:0001583	missense	80835				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2515G>A	chr1.hg19:g.6639633G>A	ENSP00000331867:p.Gly839Ser		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	hg19	CCDS81.1	.	.	.	.	.	.	.	.	.	.	G	2.898	-0.228154	0.06022	.	.	ENSG00000173662	ENST00000333172;ENST00000351136	D;D	0.90900	-2.37;-2.75	5.18	-0.747	0.11091	.	0.840078	0.10725	N	0.641242	T	0.80188	0.4577	N	0.22421	0.69	0.18873	N	0.999982	B;B	0.18310	0.027;0.003	B;B	0.12156	0.007;0.004	T	0.64050	-0.6498	10	0.25751	T	0.34	.	5.538	0.17021	0.3891:0.1411:0.4698:0.0	.	585;839	Q7RTX1-2;Q7RTX1	.;TS1R1_HUMAN	S	839;585	ENSP00000331867:G839S;ENSP00000312558:G585S	ENSP00000331867:G839S	G	+	1	0	TAS1R1	6562220	0.000000	0.05858	0.059000	0.19551	0.071000	0.16799	-0.005000	0.12855	-0.027000	0.13873	-0.216000	0.12614	GGC		0.632	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			A	6639633	G	A	6639633	3	1	84	1	0	0	0	0	1	0	0	0	15567	1116	39	1	2537	1	TAS1R1	1	6639633	Missense_Mutation	SNP	G	TCGA-A4-A5DU-01A-11D-A28G-10		6639633	242610988	1	5640											
HIVEP3	59269	hgsc.bcm.edu	37	1	41978641	41978641	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:41978641G>A	ENST00000372583.1	-	8	7136	c.6251C>T	c.(6250-6252)gCg>gTg	p.A2084V	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Missense_Mutation_p.A2084V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2084V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2084V	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2084	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCCTGGCGGCGCTGACCGTGG	0.701																																																0													25	23	23					1																	41978641		2203	4299	6502	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6251C>T	chr1.hg19:g.41978641G>A	ENSP00000361664:p.Ala2084Val		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	hg19	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539774	0.27563	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05258	3.5;3.47;3.47;3.5	4.65	-2.36	0.06663	.	0.979219	0.08323	N	0.963534	T	0.02571	0.0078	N	0.12182	0.205	0.21416	N	0.999695	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.45644	-0.9247	10	0.02654	T	1	-1.2588	4.8403	0.13487	0.3916:0.0:0.4715:0.1369	.	2084;2084	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	V	2084	ENSP00000361665:A2084V;ENSP00000361664:A2084V;ENSP00000247584:A2084V;ENSP00000410828:A2084V	ENSP00000247584:A2084V	A	-	2	0	HIVEP3	41751228	0.084000	0.21492	0.951000	0.38953	0.992000	0.81027	0.117000	0.15583	-0.322000	0.08615	0.655000	0.94253	GCG		0.701	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		A	41978641	G	A	41978641	3	1	84	1	0	0	0	0	1	0	0	0	7190	1087	38	1	977	1	HIVEP3	1	41978641	Missense_Mutation	SNP	G	TCGA-A4-A5DU-01A-11D-A28G-10	35339008	41978641	207271980	2	5641											
RORC	6097	hgsc.bcm.edu	37	1	151785765	151785765	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:151785765G>A	ENST00000318247.6	-	8	1231	c.1124C>T	c.(1123-1125)aCg>aTg	p.T375M	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000356728.6_Missense_Mutation_p.T354M|RORC_ENST00000392697.3_Missense_Mutation_p.T429M	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	375	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAAAGACCGTGCGGTTGTC	0.557																																																0													236	234	235					1																	151785765		2203	4300	6503	SO:0001583	missense	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1124C>T	chr1.hg19:g.151785765G>A	ENSP00000327025:p.Thr375Met		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	hg19	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478730	0.84747	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.96427	-4.01;-4.01;-4.01	4.62	4.62	0.57501	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	U	0.000012	D	0.97532	0.9192	M	0.71920	2.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.98360	1.0548	10	0.87932	D	0	.	16.1933	0.82006	0.0:0.0:1.0:0.0	.	375;429;375;354	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	M	354;429;375	ENSP00000349164:T354M;ENSP00000376461:T429M;ENSP00000327025:T375M	ENSP00000327025:T375M	T	-	2	0	RORC	150052389	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	9.469000	0.97679	2.391000	0.81399	0.563000	0.77884	ACG		0.557	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			A	151785765	G	A	151785765	3	1	84	1	0	0	0	0	1	0	0	0	13536	1145	40	1	448	1	RORC	1	151785765	Missense_Mutation	SNP	G	TCGA-A4-A5DU-01A-11D-A28G-10	109807124	151785765	97464856	3	5642											
FASLG	356	hgsc.bcm.edu	37	1	172634980	172634980	+	Missense_Mutation	SNP	A	A	G	rs111238176		TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:172634980A>G	ENST00000367721.2	+	4	854	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	224					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGATCTGGTGATGATGGAGGG	0.507																																					Ovarian(28;486 876 30334 44033)											0													107	102	104					1																	172634980		2203	4300	6503	SO:0001583	missense	356			U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11936	protein-coding gene	gene with protein product		134638	"tumor necrosis factor (ligand) superfamily, member 6"	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.670A>G	chr1.hg19:g.172634980A>G	ENSP00000356694:p.Met224Val		Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	hg19	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.431408	0.43122	.	.	ENSG00000117560	ENST00000367721	D	0.94457	-3.43	5.34	4.41	0.53225	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.257132	0.32624	N	0.005854	T	0.78033	0.4220	N	0.02539	-0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75068	-0.3448	10	0.66056	D	0.02	-4.9683	13.2687	0.60150	0.1797:0.8202:0.0:0.0	.	224	P48023	TNFL6_HUMAN	V	224	ENSP00000356694:M224V	ENSP00000356694:M224V	M	+	1	0	FASLG	170901603	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.680000	0.25306	1.203000	0.43233	0.528000	0.53228	ATG		0.507	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			G	172634980	A	G	172634980	3	3	84	1	0	0	0	0	1	0	0	0	5684	333	12	3	684	3	FASLG	1	172634980	Missense_Mutation	SNP	A	TCGA-A4-A5DU-01A-11D-A28G-10	20849215	172634980	76615641	4	5643											
PIGR	5284	hgsc.bcm.edu	37	1	207112530	207112530	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:207112530A>G	ENST00000356495.4	-	3	505	c.322T>C	c.(322-324)Tac>Cac	p.Y108H		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	108	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCACACTTGTAGCGCCCGGAG	0.577																																																0													75	64	68					1																	207112530		2203	4300	6503	SO:0001583	missense	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.322T>C	chr1.hg19:g.207112530A>G	ENSP00000348888:p.Tyr108His		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	hg19	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035080	0.75617	.	.	ENSG00000162896	ENST00000356495	D	0.94537	-3.45	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	D	0.97939	0.9322	H	0.95004	3.61	0.44890	D	0.997906	D	0.89917	1.0	D	0.97110	1.0	D	0.98953	1.0795	10	0.87932	D	0	-20.6353	13.9439	0.64073	1.0:0.0:0.0:0.0	.	108	P01833	PIGR_HUMAN	H	108	ENSP00000348888:Y108H	ENSP00000348888:Y108H	Y	-	1	0	PIGR	205179153	1.000000	0.71417	0.979000	0.43373	0.686000	0.39977	5.514000	0.67043	2.288000	0.76882	0.533000	0.62120	TAC		0.577	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		G	207112530	A	G	207112530	3	3	84	1	0	0	0	0	1	0	0	0	11899	420	15	3	2008	3	PIGR	1	207112530	Missense_Mutation	SNP	A	TCGA-A4-A5DU-01A-11D-A28G-10	34477550	207112530	42138091	5	5644											
DISC1	27185	hgsc.bcm.edu	37	1	231931003	231931003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:231931003delA	ENST00000602281.1	+	7	1703	c.1650delA	c.(1648-1650)atafs	p.I550fs	TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Frame_Shift_Del_p.I550fs|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Frame_Shift_Del_p.I550fs|DISC1_ENST00000366633.3_Frame_Shift_Del_p.I550fs|DISC1_ENST00000366636.4_Frame_Shift_Del_p.I550fs|DISC1_ENST00000539444.1_Frame_Shift_Del_p.I550fs|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Intron	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	550	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGGAAAGAATAAAATCCCTCA	0.358																																																0													84	85	85					1																	231931003		2203	4300	6503	SO:0001589	frameshift_variant	27185			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1650delA	chr1.hg19:g.231931003delA	ENSP00000473425:p.Ile550fs		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Frame_Shift_Del	DEL	ENST00000602281.1	hg19	CCDS59205.1																																																																																				0.358	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		-	231931003	A	-	231931003	7	5	84	1	0	1	0	1	0	0	0	0	4540	352	13	0	2049	0	DISC1	1	231931003	Frame_Shift_Del	DEL	A	TCGA-A4-A5DU-01A-11D-A28G-10	24818473	231931003	17319618	6	5645											
PPM1B	5495	hgsc.bcm.edu	37	2	44457731	44457731	+	Silent	SNP	T	T	C			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr2:44457731T>C	ENST00000282412.4	+	6	1726	c.1314T>C	c.(1312-1314)tcT>tcC	p.S438S	PPM1B_ENST00000345249.4_Silent_p.S151S|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000378540.4_Intron|PPM1B_ENST00000409432.3_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	438					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGCTACTTCTTCGAACAGTG	0.473																																																0													76	74	75					2																	44457731		2203	4300	6503	SO:0001819	synonymous_variant	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.1314T>C	chr2.hg19:g.44457731T>C			Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Silent	SNP	ENST00000282412.4	hg19	CCDS1817.1																																																																																				0.473	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		C	44457731	T	C	44457731	2	2	84	1	0	0	0	0	0	0	0	1	12341	1596	56	3		3	PPM1B	2	44457731	Silent	SNP	T	TCGA-A4-A5DU-01A-11D-A28G-10		44457731	198741642	7	5646											
PRKCE	5581	hgsc.bcm.edu	37	2	45879246	45879246	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr2:45879246G>C	ENST00000306156.3	+	1	334	c.7G>C	c.(7-9)Gtg>Ctg	p.V3L		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	3	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GACCATGGTAGTGTTCAATGG	0.652																																																0													31	36	35					2																	45879246		2196	4297	6493	SO:0001583	missense	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.7G>C	chr2.hg19:g.45879246G>C	ENSP00000306124:p.Val3Leu		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	hg19	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565679	0.65651	.	.	ENSG00000171132	ENST00000421201;ENST00000306156	T;T	0.08458	3.09;3.09	4.71	4.71	0.59529	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.080242	0.47852	D	0.000211	T	0.09202	0.0227	L	0.40543	1.245	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.19192	-1.0313	10	0.20519	T	0.43	.	17.673	0.88224	0.0:0.0:1.0:0.0	.	3	Q02156	KPCE_HUMAN	L	3	ENSP00000394574:V3L;ENSP00000306124:V3L	ENSP00000306124:V3L	V	+	1	0	PRKCE	45732750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.766000	0.98957	2.152000	0.67230	0.561000	0.74099	GTG		0.652	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			C	45879246	G	C	45879246	3	2	84	1	0	0	0	0	1	0	0	0	12516	1029	36	4	9	4	PRKCE	2	45879246	Missense_Mutation	SNP	G	TCGA-A4-A5DU-01A-11D-A28G-10	1421515	45879246	197320127	8	5647											
ABCA12	26154	hgsc.bcm.edu	37	2	215865727	215865727	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr2:215865727G>C	ENST00000272895.7	-	22	3100	c.2881C>G	c.(2881-2883)Cct>Gct	p.P961A	ABCA12_ENST00000389661.4_Missense_Mutation_p.P643A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	961					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGTTAGAAGGAAGCTTAAAA	0.403																																					Ovarian(66;664 1488 5121 34295)											0													55	58	57					2																	215865727		2202	4300	6502	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2881C>G	chr2.hg19:g.215865727G>C	ENSP00000272895:p.Pro961Ala		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749673	0.69533	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.86627	-2.15;-2.15	5.9	5.9	0.94986	.	0.627251	0.15788	N	0.244589	D	0.92221	0.7533	L	0.46947	1.48	0.80722	D	1	D;D	0.89917	1.0;0.984	D;P	0.87578	0.998;0.885	D	0.91505	0.5222	10	0.59425	D	0.04	.	20.2664	0.98460	0.0:0.0:1.0:0.0	.	961;643	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	A	961;643	ENSP00000272895:P961A;ENSP00000374312:P643A	ENSP00000272895:P961A	P	-	1	0	ABCA12	215573972	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.627000	0.67784	2.786000	0.95864	0.561000	0.74099	CCT		0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		C	215865727	G	C	215865727	3	2	84	1	0	0	0	0	1	0	0	0	30	1174	41	4	5034	4	ABCA12	2	215865727	Missense_Mutation	SNP	G	TCGA-A4-A5DU-01A-11D-A28G-10	169986481	215865727	27333646	9	5648											
TNS1	7145	hgsc.bcm.edu	37	2	218713569	218713569	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr2:218713569C>G	ENST00000171887.4	-	17	1748	c.1296G>C	c.(1294-1296)ttG>ttC	p.L432F	TNS1_ENST00000430930.1_Missense_Mutation_p.L432F|TNS1_ENST00000419504.1_Missense_Mutation_p.L432F|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	432					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTGGGGACTCAAGGCAGCAG	0.642																																																0													64	67	66					2																	218713569		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1296G>C	chr2.hg19:g.218713569C>G	ENSP00000171887:p.Leu432Phe		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	hg19	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454564	0.43634	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.95447	-3.48;-3.47;-3.49;-3.71	4.79	3.9	0.45041	.	0.172150	0.40469	N	0.001094	D	0.96929	0.8997	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;0.999;0.999	D;D;D;D;D	0.85130	0.997;0.943;0.974;0.994;0.981	D	0.96213	0.9154	10	0.46703	T	0.11	.	10.7558	0.46237	0.0:0.8443:0.0:0.1557	.	432;486;432;432;432	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	F	432;432;432;557	ENSP00000171887:L432F;ENSP00000408724:L432F;ENSP00000406016:L432F;ENSP00000405460:L557F	ENSP00000171887:L432F	L	-	3	2	TNS1	218421814	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	1.405000	0.34635	1.227000	0.43598	0.561000	0.74099	TTG		0.642	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218713569	C	G	218713569	3	3	84	1	0	0	0	0	1	0	0	0	16348	825	29	4	3979	4	TNS1	2	218713569	Missense_Mutation	SNP	C	TCGA-A4-A5DU-01A-11D-A28G-10	2847842	218713569	24485804	10	5649											
NISCH	11188	hgsc.bcm.edu	37	3	52526011	52526011	+	Missense_Mutation	SNP	C	C	T	rs369447186		TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr3:52526011C>T	ENST00000479054.1	+	22	4100	c.4028C>T	c.(4027-4029)cCa>cTa	p.P1343L	NISCH_ENST00000345716.4_Missense_Mutation_p.P1343L			Q9Y2I1	NISCH_HUMAN	nischarin	1343					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GAGAAGGCCCCAGCCCTCAGC	0.627																																																0								C	LEU/PRO	0,4406		0,0,2203	71	73	72		4028	4.7	0.1	3		72	2,8598	2.2+/-6.3	0,2,4298	no	missense	NISCH	NM_007184.3	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1343/1505	52526011	2,13004	2203	4300	6503	SO:0001583	missense	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4028C>T	chr3.hg19:g.52526011C>T	ENSP00000418232:p.Pro1343Leu		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	hg19	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744827	0.49151	0.0	2.33E-4	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.07908	3.15;3.15	5.6	4.7	0.59300	.	0.353140	0.30277	N	0.009998	T	0.07458	0.0188	N	0.24115	0.695	0.09310	N	0.999995	B	0.06786	0.001	B	0.09377	0.004	T	0.24728	-1.0152	10	0.62326	D	0.03	-9.2061	14.0883	0.64973	0.4654:0.5346:0.0:0.0	.	1343	Q9Y2I1	NISCH_HUMAN	L	1343;1343;267;687	ENSP00000418232:P1343L;ENSP00000339958:P1343L	ENSP00000339958:P1343L	P	+	2	0	NISCH	52501051	0.002000	0.14202	0.052000	0.19188	0.991000	0.79684	1.108000	0.31123	1.309000	0.44985	0.491000	0.48974	CCA		0.627	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		T	52526011	C	T	52526011	3	4	84	1	0	0	0	0	1	0	0	0	10434	594	21	2	4110	2	NISCH	3	52526011	Missense_Mutation	SNP	C	TCGA-A4-A5DU-01A-11D-A28G-10		52526011	145496419	11	5650											
ZNF721	170960	hgsc.bcm.edu	37	4	436799	436801	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr4:436799_436801delGAG	ENST00000338977.5	-	2	1467_1469	c.1419_1421delCTC	c.(1417-1422)tcctca>tca	p.473_474SS>S	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_In_Frame_Del_p.485_486SS>S			Q8TF20	ZN721_HUMAN	zinc finger protein 721	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGCAAAGCTTGAGGATGAGGTAA	0.369																																																0										2,3976		1,0,1988						0.4	0.1			78	1,8109		0,1,4054	no	coding	ZNF721	NM_133474.2		1,1,6042	A1A1,A1R,RR		0.0123,0.0503,0.0248				3,12085				SO:0001651	inframe_deletion	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1419_1421delCTC	chr4.hg19:g.436799_436801delGAG	ENSP00000340524:p.Ser475del		Q69YG7	In_Frame_Del	DEL	ENST00000338977.5	hg19																																																																																					0.369	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		-	436801	GAG	-	436799	7	5	84	1	0	1	0	1	0	0	0	0	18127	1294	45	0	1318	0	ZNF721	4	436799	In_Frame_Del	DEL	GAG	TCGA-A4-A5DU-01A-11D-A28G-10		436799	190717477	12	5651											
DSPP	1834	hgsc.bcm.edu	37	4	88537224	88537232	+	In_Frame_Del	DEL	ACAGCAGCA	ACAGCAGCA	-	rs201608130|rs140656082|rs200679221|rs564674887	byFrequency	TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	ACAGCAGCA	ACAGCAGCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr4:88537224_88537232delACAGCAGCA	ENST00000282478.7	+	4	3443_3451	c.3410_3418delACAGCAGCA	c.(3409-3420)gacagcagcaac>gac	p.SSN1138del	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.SSN1138del			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1138	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gatagcagtgacagcagcaacagcagtga	0.569																																																0																																										SO:0001651	inframe_deletion	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3410_3418delACAGCAGCA	chr4.hg19:g.88537224_88537232delACAGCAGCA	ENSP00000282478:p.Ser1138_Asn1140del		A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	hg19	CCDS43248.1																																																																																				0.569	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		-	88537232	ACAGCAGCA	-	88537224	7	5	84	1	0	1	0	1	0	0	0	0	4784	275	10	0	3424	0	DSPP	4	88537224	In_Frame_Del	DEL	ACAGCAGCA	TCGA-A4-A5DU-01A-11D-A28G-10	88100425	88537224	102617052	13	5652											
IL6ST	3572	hgsc.bcm.edu	37	5	55237637	55237637	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr5:55237637T>A	ENST00000381298.2	-	17	2342	c.2030A>T	c.(2029-2031)aAt>aTt	p.N677I	IL6ST_ENST00000336909.5_Missense_Mutation_p.N677I|IL6ST_ENST00000381294.3_Missense_Mutation_p.N616I|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.N677I|IL6ST_ENST00000536319.1_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381286.3_Missense_Mutation_p.I53F|IL6ST_ENST00000381293.2_Missense_Mutation_p.I190F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	677					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCTTTTGAATTAAAATTGTG	0.343			O		hepatocellular ca																																		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													43	47	46					5																	55237637		2199	4298	6497	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2030A>T	chr5.hg19:g.55237637T>A	ENSP00000370698:p.Asn677Ile		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	hg19	CCDS3971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.125|9.125	1.009945|1.009945	0.19277|0.19277	.|.	.|.	ENSG00000134352|ENSG00000134352	ENST00000381293;ENST00000381286|ENST00000381298;ENST00000336909;ENST00000381294	T;T|T;T;T	0.56611|0.40225	1.87;0.45|1.31;1.31;1.04	5.68|5.68	1.97|1.97	0.26223|0.26223	.|.	.|0.501171	.|0.23920	.|N	.|0.043246	T|T	0.37732|0.37732	0.1014|0.1014	N|N	0.19112|0.19112	0.55|0.55	0.41896|0.41896	D|D	0.990396|0.990396	P|P;D;P	0.39216|0.60160	0.664|0.822;0.987;0.822	B|B;P;P	0.36030|0.56216	0.216|0.406;0.794;0.534	T|T	0.03608|0.03608	-1.1020|-1.1020	9|10	0.87932|0.22706	D|T	0|0.39	.|.	11.3078|11.3078	0.49345|0.49345	0.0:0.2696:0.0:0.7304|0.0:0.2696:0.0:0.7304	.|.	190|677;616;677	Q5FC05|Q17RA0;Q5FC04;P40189	.|.;.;IL6RB_HUMAN	F|I	190;53|677;677;616	ENSP00000370693:I190F;ENSP00000370686:I53F|ENSP00000370698:N677I;ENSP00000338799:N677I;ENSP00000370694:N616I	ENSP00000370686:I53F|ENSP00000338799:N677I	I|N	-|-	1|2	0|0	IL6ST|IL6ST	55273394|55273394	0.905000|0.905000	0.30787|0.30787	0.932000|0.932000	0.37286|0.37286	0.603000|0.603000	0.37013|0.37013	0.092000|0.092000	0.15066|0.15066	-0.059000|-0.059000	0.13154|0.13154	-1.162000|-1.162000	0.01777|0.01777	ATT|AAT		0.343	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		A	55237637	T	A	55237637	3	1	84	1	0	0	0	0	1	0	0	0	7705	1493	52	5	730	5	IL6ST	5	55237637	Missense_Mutation	SNP	T	TCGA-A4-A5DU-01A-11D-A28G-10		55237637	125677623	14	5653											
FHL5	9457	hgsc.bcm.edu	37	6	97051597	97051597	+	Silent	SNP	A	A	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr6:97051597A>G	ENST00000326771.2	+	3	488	c.108A>G	c.(106-108)gtA>gtG	p.V36V	FHL5_ENST00000541107.1_Silent_p.V36V	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	36					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ATGATCGTGTATTTTCTAACT	0.363																																																0													166	146	153					6																	97051597		2203	4300	6503	SO:0001819	synonymous_variant	9457			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.108A>G	chr6.hg19:g.97051597A>G			B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	ENST00000326771.2	hg19	CCDS5035.1																																																																																				0.363	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		G	97051597	A	G	97051597	2	3	84	1	0	0	0	0	0	0	0	1	5883	436	16	3		3	FHL5	6	97051597	Silent	SNP	A	TCGA-A4-A5DU-01A-11D-A28G-10		97051597	74063470	15	5654											
ZMIZ2	83637	hgsc.bcm.edu	37	7	44796552	44796552	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr7:44796552G>A	ENST00000309315.4	+	4	295	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.G58R|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.G58R|ZMIZ2_ENST00000433667.1_Intron	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	58	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATAGGTTTTGGGGAACCCCAT	0.592																																					NSCLC(20;604 852 1948 16908 50522)											0													112	114	113					7																	44796552		1971	4146	6117	SO:0001583	missense	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.172G>A	chr7.hg19:g.44796552G>A	ENSP00000311778:p.Gly58Arg		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	hg19	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707309	0.89018	.	.	ENSG00000122515	ENST00000457123;ENST00000309315;ENST00000441627;ENST00000265346;ENST00000414051	D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51	4.8	4.8	0.61643	.	0.000000	0.56097	D	0.000030	D	0.98466	0.9489	M	0.71036	2.16	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.79108	0.962;0.992	D	0.99771	1.1024	10	0.87932	D	0	-8.5125	17.6515	0.88165	0.0:0.0:1.0:0.0	.	58;58	Q8NF64-2;Q8NF64	.;ZMIZ2_HUMAN	R	58	ENSP00000415501:G58R;ENSP00000311778:G58R;ENSP00000414723:G58R;ENSP00000265346:G58R	ENSP00000265346:G58R	G	+	1	0	ZMIZ2	44763077	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.810000	0.91950	2.485000	0.83878	0.655000	0.94253	GGG		0.592	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		A	44796552	G	A	44796552	3	1	84	1	0	0	0	0	1	0	0	0	17702	1232	43	2	182	2	ZMIZ2	7	44796552	Missense_Mutation	SNP	G	TCGA-A4-A5DU-01A-11D-A28G-10		44796552	114342111	16	5655											
PON2	5445	hgsc.bcm.edu	37	7	95040981	95040981	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr7:95040981G>T	ENST00000222572.3	-	5	724	c.478C>A	c.(478-480)Cat>Aat	p.H160N	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.H148N|PON2_ENST00000536183.1_Missense_Mutation_p.H181N			Q15165	PON2_HUMAN	paraoxonase 2	160					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			AGAAGCTCATGTTTGACTGTT	0.358																																					GBM(42;803 823 13649 23368 31463)											0													76	78	78					7																	95040981		2203	4300	6503	SO:0001583	missense	5445			M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"Paraoxonases"	9205	protein-coding gene	gene with protein product	"paraoxonase nirs", "arylesterase 2"	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.478C>A	chr7.hg19:g.95040981G>T	ENSP00000222572:p.His160Asn		A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	hg19	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921121	0.33908	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.40476	2.34;1.03;2.34	4.94	3.1	0.35709	Six-bladed beta-propeller, TolB-like (1);	0.093511	0.85682	D	0.000000	T	0.60077	0.2241	M	0.83118	2.625	0.52501	D	0.999956	D;D	0.76494	0.998;0.999	D;D	0.69824	0.946;0.966	T	0.60944	-0.7162	10	0.14252	T	0.57	-9.4713	10.7179	0.46023	0.0717:0.132:0.7963:0.0	.	160;160	A4D1H7;Q15165	.;PON2_HUMAN	N	181;158;148;160	ENSP00000440282:H181N;ENSP00000404622:H148N;ENSP00000222572:H160N	ENSP00000222572:H160N	H	-	1	0	PON2	94878917	1.000000	0.71417	0.894000	0.35097	0.062000	0.15995	7.184000	0.77705	0.774000	0.33427	-0.157000	0.13467	CAT		0.358	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		T	95040981	G	T	95040981	3	4	84	1	0	0	0	0	1	0	0	0	12251	1377	48	4	606	4	PON2	7	95040981	Missense_Mutation	SNP	G	TCGA-A4-A5DU-01A-11D-A28G-10	50244429	95040981	64097682	17	5656											
PDP1	54704	hgsc.bcm.edu	37	8	94934633	94934633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr8:94934633C>T	ENST00000297598.4	+	2	615	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	PDP1_ENST00000517764.1_Nonsense_Mutation_p.Q116*|PDP1_ENST00000520728.1_Nonsense_Mutation_p.Q116*|PDP1_ENST00000396200.3_Nonsense_Mutation_p.Q141*	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	116				NVSSILGFDSNQ -> MSVLSLDLTAIK (in Ref. 1; AAF67480). {ECO:0000305}.	cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TGACAGCAATCAGCTGCCTGC	0.463																																																0													88	92	90					8																	94934633		2203	4300	6503	SO:0001587	stop_gained	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.346C>T	chr8.hg19:g.94934633C>T	ENSP00000297598:p.Gln116*		B3KX71|J3KPU0|Q5U5K1	Nonsense_Mutation	SNP	ENST00000297598.4	hg19	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196332	0.94960	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000518573;ENST00000517764;ENST00000518827;ENST00000521144	.	.	.	6.03	6.03	0.97812	.	0.120323	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.0857	20.5753	0.99366	0.0:1.0:0.0:0.0	.	.	.	.	X	116;116;141;116;116;116;116	.	ENSP00000297598:Q116X	Q	+	1	0	PDP1	95003809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.868000	0.98415	0.557000	0.71058	CAG		0.463	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		T	94934633	C	T	94934633	4	4	84	1	0	0	0	0	0	1	0	0	11687	827	29	2	529	2	PDP1	8	94934633	Nonsense_Mutation	SNP	C	TCGA-A4-A5DU-01A-11D-A28G-10		94934633	51429389	18	5657											
DDX50	79009	hgsc.bcm.edu	37	10	70670106	70670106	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr10:70670106C>A	ENST00000373585.3	+	3	535	c.428C>A	c.(427-429)cCt>cAt	p.P143H	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	143						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TCCAATTTTCCTATTTCTGAA	0.378																																																0													129	133	132					10																	70670106		2203	4300	6503	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.428C>A	chr10.hg19:g.70670106C>A	ENSP00000362687:p.Pro143His		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	hg19	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489203	0.64074	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.21543	2.0	5.23	5.23	0.72850	RNA helicase, DEAD-box type, Q motif (1);	0.210307	0.43110	D	0.000611	T	0.19005	0.0456	L	0.32530	0.975	0.35802	D	0.82318	P;P	0.48016	0.904;0.604	B;B	0.42882	0.401;0.396	T	0.11891	-1.0569	10	0.48119	T	0.1	-3.6785	13.2098	0.59817	0.1588:0.8412:0.0:0.0	.	143;143	Q9BQ39;B4DED6	DDX50_HUMAN;.	H	143	ENSP00000362687:P143H	ENSP00000362687:P143H	P	+	2	0	DDX50	70340112	0.366000	0.25014	1.000000	0.80357	0.993000	0.82548	1.963000	0.40452	2.585000	0.87301	0.555000	0.69702	CCT		0.378	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		A	70670106	C	A	70670106	3	1	84	1	0	0	0	0	1	0	0	0	4370	681	24	4	438	4	DDX50	10	70670106	Missense_Mutation	SNP	C	TCGA-A4-A5DU-01A-11D-A28G-10		70670106	64864641	19	5658											
INCENP	3619	hgsc.bcm.edu	37	11	61897408	61897408	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr11:61897408G>A	ENST00000394818.3	+	4	611	c.409G>A	c.(409-411)Gca>Aca	p.A137T	INCENP_ENST00000278849.4_Missense_Mutation_p.A137T	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	137			A -> V (in dbSNP:rs34441559).		chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGCTACCATGGCATTGGCTGC	0.627																																																0													60	60	60					11																	61897408		2201	4299	6500	SO:0001583	missense	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.409G>A	chr11.hg19:g.61897408G>A	ENSP00000378295:p.Ala137Thr		A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	hg19	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	9.095	1.002664	0.19121	.	.	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.23754	2.52;1.89;2.51	3.14	-3.13	0.05266	.	2.075460	0.02904	N	0.135798	T	0.13884	0.0336	N	0.22421	0.69	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.14671	-1.0464	10	0.10636	T	0.68	.	4.1359	0.10170	0.3443:0.3363:0.3194:0.0	.	137;137;137	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	T	137	ENSP00000378295:A137T;ENSP00000433100:A137T;ENSP00000278849:A137T	ENSP00000278849:A137T	A	+	1	0	INCENP	61653984	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.779000	0.04659	-0.725000	0.04901	-0.459000	0.05422	GCA		0.627	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		A	61897408	G	A	61897408	3	1	84	1	0	0	0	0	1	0	0	0	7735	1203	42	2	419	2	INCENP	11	61897408	Missense_Mutation	SNP	G	TCGA-A4-A5DU-01A-11D-A28G-10		61897408	73109108	20	5659											
GXYLT1	283464	hgsc.bcm.edu	37	12	42481670	42481670	+	Missense_Mutation	SNP	C	C	T	rs200973030		TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr12:42481670C>T	ENST00000398675.3	-	8	1473	c.1241G>A	c.(1240-1242)tGt>tAt	p.C414Y	GXYLT1_ENST00000280876.6_Missense_Mutation_p.C383Y	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	414					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AATTTTTCCACAGTATGTATG	0.313																																																0													86	77	80					12																	42481670		1809	4072	5881	SO:0001583	missense	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1241G>A	chr12.hg19:g.42481670C>T	ENSP00000381666:p.Cys414Tyr		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	hg19	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903071	0.72754	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	M	0.85197	2.74	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87025	0.2131	9	0.87932	D	0	-22.3783	18.4282	0.90615	0.0:1.0:0.0:0.0	.	383;414	Q4G148-2;Q4G148	.;GXLT1_HUMAN	Y	414;383	.	ENSP00000280876:C383Y	C	-	2	0	GXYLT1	40767937	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.785000	0.62418	2.435000	0.82474	0.655000	0.94253	TGT		0.313	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		T	42481670	C	T	42481670	3	4	84	1	0	0	0	0	1	0	0	0	6905	478	17	2	85	2	GXYLT1	12	42481670	Missense_Mutation	SNP	C	TCGA-A4-A5DU-01A-11D-A28G-10		42481670	91370225	21	5660											
SLC25A3	5250	hgsc.bcm.edu	37	12	98995295	98995295	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr12:98995295T>A	ENST00000228318.3	+	8	1198	c.1078T>A	c.(1078-1080)Tta>Ata	p.L360I	SLC25A3_ENST00000552981.1_Missense_Mutation_p.L359I|SLC25A3_ENST00000401722.3_Missense_Mutation_p.L359I|SLC25A3_ENST00000548847.1_Missense_Mutation_p.L322I|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Missense_Mutation_p.L359I|SLC25A3_ENST00000549338.1_Missense_Mutation_p.L359I|SLC25A3_ENST00000551917.1_Missense_Mutation_p.L360I	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	360					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GAAGCTTGGGTTAACTCAGTA	0.433																																																0													83	79	80					12																	98995295		2203	4300	6503	SO:0001583	missense	5250				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.1078T>A	chr12.hg19:g.98995295T>A	ENSP00000228318:p.Leu360Ile		B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	hg19	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008501	0.75046	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-0.89;-0.89;-1.15;-1.15;-1.13	5.48	3.14	0.36123	.	0.132239	0.49305	D	0.000142	T	0.72112	0.3420	N	0.17674	0.51	0.51012	D	0.999902	B;P;P;B	0.52842	0.135;0.956;0.598;0.135	B;D;B;B	0.65010	0.121;0.931;0.19;0.145	T	0.66324	-0.5952	10	0.09590	T	0.72	-0.9242	7.4149	0.27038	0.0:0.3411:0.0:0.6589	.	322;359;360;359	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	I	359;359;360;360;359;359;322	ENSP00000383898:L359I;ENSP00000188376:L359I;ENSP00000228318:L360I;ENSP00000447310:L360I;ENSP00000448708:L359I;ENSP00000447740:L359I;ENSP00000449166:L322I	ENSP00000188376:L359I	L	+	1	2	SLC25A3	97519426	0.996000	0.38824	1.000000	0.80357	0.956000	0.61745	0.932000	0.28884	1.022000	0.39626	0.533000	0.62120	TTA		0.433	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		A	98995295	T	A	98995295	3	1	84	1	0	0	0	0	1	0	0	0	14499	1722	60	5	1230	5	SLC25A3	12	98995295	Missense_Mutation	SNP	T	TCGA-A4-A5DU-01A-11D-A28G-10	56513625	98995295	34856600	22	5661											
C12orf45	121053	hgsc.bcm.edu	37	12	105385505	105385505	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr12:105385505A>T	ENST00000552951.1	+	3	261	c.218A>T	c.(217-219)cAg>cTg	p.Q73L	C12orf45_ENST00000280749.5_Intron	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	73										large_intestine(1)|lung(2)	3						GACCAGGTACAGACATTTCTC	0.398																																																0													98	91	93					12																	105385505		1855	4099	5954	SO:0001583	missense	121053			BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.218A>T	chr12.hg19:g.105385505A>T	ENSP00000447057:p.Gln73Leu			Missense_Mutation	SNP	ENST00000552951.1	hg19	CCDS41825.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.103577	0.37145	.	.	ENSG00000151131	ENST00000552951	T	0.37058	1.22	5.09	3.94	0.45596	.	0.176887	0.51477	D	0.000095	T	0.39517	0.1081	M	0.77820	2.39	0.43372	D	0.995466	P	0.37330	0.59	B	0.37943	0.261	T	0.32955	-0.9887	10	0.72032	D	0.01	.	8.5681	0.33552	0.9109:0.0:0.0891:0.0	.	73	Q8N5I9	CL045_HUMAN	L	73	ENSP00000447057:Q73L	ENSP00000447057:Q73L	Q	+	2	0	C12orf45	103909635	1.000000	0.71417	0.962000	0.40283	0.510000	0.34073	3.094000	0.50227	0.799000	0.34018	0.482000	0.46254	CAG		0.398	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406076.1	NM_152318		T	105385505	A	T	105385505	3	4	84	1	0	0	0	0	1	0	0	0	1693	188	7	5	228	5	C12orf45	12	105385505	Missense_Mutation	SNP	A	TCGA-A4-A5DU-01A-11D-A28G-10	6390210	105385505	28466390	23	5662											
RPGRIP1	57096	hgsc.bcm.edu	37	14	21793036	21793036	+	Silent	SNP	C	C	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr14:21793036C>T	ENST00000400017.2	+	14	2022	c.2022C>T	c.(2020-2022)ccC>ccT	p.P674P	RPGRIP1_ENST00000206660.6_Silent_p.P674P|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Silent_p.P33P|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Silent_p.P636P|RPGRIP1_ENST00000553500.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	674					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCCACAGCCCCTCTATGACT	0.512																																																0													169	159	162					14																	21793036		1949	4136	6085	SO:0001819	synonymous_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2022C>T	chr14.hg19:g.21793036C>T			Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	hg19	CCDS45080.1																																																																																				0.512	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		T	21793036	C	T	21793036	2	4	84	1	0	0	0	0	0	0	0	1	13555	610	22	2		2	RPGRIP1	14	21793036	Silent	SNP	C	TCGA-A4-A5DU-01A-11D-A28G-10		21793036	85556504	24	5663											
FAM98B	283742	hgsc.bcm.edu	37	15	38776827	38776827	+	IGR	SNP	T	T	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr15:38776827T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G423G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		gtggtggtggtggtggtggag	0.443																																																0													19	18	18					15																	38776827		1515	3413	4928	SO:0001628	intergenic_variant	283742				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		chr15.hg19:g.38776827T>A			A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	hg19	CCDS42015.1																																																																																				0.443	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		A	38776827	T	A	38776827	1	1	84	0	1	0	0	0	0	0	0	0	5659	1683	59	5		5	FAM98B	15	38776827	IGR	SNP	T	TCGA-A4-A5DU-01A-11D-A28G-10		38776827	63754565	25	5664											
KIAA1199	57214	hgsc.bcm.edu	37	15	81181040	81181040	+	Splice_Site	SNP	A	A	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr15:81181040A>T	ENST00000394685.3	+	9	1287		c.e9-1		KIAA1199_ENST00000220244.3_Splice_Site|KIAA1199_ENST00000356249.5_Splice_Site			Q8WUJ3	CEMIP_HUMAN							hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTTCTCTGACAGGACATCGAG	0.498																																																0													101	99	100					15																	81181040		2203	4300	6503	SO:0001630	splice_region_variant	57214																														ENST00000394685.3:c.869-1A>T	chr15.hg19:g.81181040A>T			Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Splice_Site	SNP	ENST00000394685.3	hg19	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.547385	0.27652	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6315	0.68660	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1199	78968095	1.000000	0.71417	0.786000	0.31890	0.035000	0.12851	6.504000	0.73704	2.046000	0.60703	0.455000	0.32223	.		0.498	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		Intron	T	81181040	A	T	81181040	5	4	84	1	0	0	0	0	0	0	1	0	8215	202	7	5	893	5	KIAA1199	15	81181040	Splice_Site	SNP	A	TCGA-A4-A5DU-01A-11D-A28G-10	42404213	81181040	21350352	26	5665											
GLTPD2	388323	hgsc.bcm.edu	37	17	4693110	4693110	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr17:4693110A>G	ENST00000331264.7	+	4	448	c.395A>G	c.(394-396)aAg>aGg	p.K132R		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	132						cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GCCTTCACCAAGGTGACAGAC	0.672																																																0													16	17	16					17																	4693110		2178	4256	6434	SO:0001583	missense	388323			BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.395A>G	chr17.hg19:g.4693110A>G	ENSP00000328070:p.Lys132Arg		A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	hg19	CCDS32534.1	.	.	.	.	.	.	.	.	.	.	A	32	5.182952	0.94885	.	.	ENSG00000182327	ENST00000331264	.	.	.	4.55	4.55	0.56014	Glycolipid transfer protein domain (3);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84725	0.0742	9	0.66056	D	0.02	-15.1395	11.95	0.52950	1.0:0.0:0.0:0.0	.	132	A6NH11	GLTD2_HUMAN	R	132	.	ENSP00000328070:K132R	K	+	2	0	GLTPD2	4639850	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	5.451000	0.66632	1.924000	0.55735	0.454000	0.30748	AAG		0.672	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985		G	4693110	A	G	4693110	3	3	84	1	0	0	0	0	1	0	0	0	6475	72	3	3	409	3	GLTPD2	17	4693110	Missense_Mutation	SNP	A	TCGA-A4-A5DU-01A-11D-A28G-10		4693110	76502100	27	5666											
CDC37	11140	hgsc.bcm.edu	37	19	10506875	10506875	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr19:10506875C>T	ENST00000222005.2	-	2	160	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	36					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		GCGTTCCACCCGGGCCTGCGG	0.632																																																0													39	42	41					19																	10506875		2203	4300	6503	SO:0001583	missense	11140			U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.107G>A	chr19.hg19:g.10506875C>T	ENSP00000222005:p.Arg36Gln		Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	hg19	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265565	0.95399	.	.	ENSG00000105401	ENST00000222005	T	0.57436	0.4	4.19	4.19	0.49359	Cdc37, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.83852	2.665	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.56216	0.794;0.794	T	0.76130	-0.3072	10	0.87932	D	0	.	14.3942	0.67001	0.0:1.0:0.0:0.0	.	36;36	Q6FG59;Q16543	.;CDC37_HUMAN	Q	36	ENSP00000222005:R36Q	ENSP00000222005:R36Q	R	-	2	0	CDC37	10367875	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.268000	0.78473	2.058000	0.61347	0.555000	0.69702	CGG		0.632	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		T	10506875	C	T	10506875	3	4	84	1	0	0	0	0	1	0	0	0	3070	652	23	1	1057	1	CDC37	19	10506875	Missense_Mutation	SNP	C	TCGA-A4-A5DU-01A-11D-A28G-10		10506875	48622108	28	5667											
GATA5	140628	hgsc.bcm.edu	37	20	61050059	61050059	+	Silent	SNP	G	G	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr20:61050059G>T	ENST00000252997.2	-	2	580	c.519C>A	c.(517-519)acC>acA	p.T173T	RP13-379O24.3_ENST00000606283.1_lincRNA	NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	173					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			ACTCACCGAAGGTGGGCCTGC	0.721																																																0													3	4	3					20																	61050059		1891	3784	5675	SO:0001819	synonymous_variant	140628			BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"GATA zinc finger domain containing"	15802	protein-coding gene	gene with protein product		611496	"GATA-binding protein 5"			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.519C>A	chr20.hg19:g.61050059G>T			D9ZGF7|Q17RE2|Q86VU4	Silent	SNP	ENST00000252997.2	hg19	CCDS13499.1																																																																																				0.721	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		T	61050059	G	T	61050059	2	4	84	1	0	0	0	0	0	0	0	1	6259	987	35	4		4	GATA5	20	61050059	Silent	SNP	G	TCGA-A4-A5DU-01A-11D-A28G-10		61050059	1975461	29	5668											
ACO2	50	hgsc.bcm.edu	37	22	41911896	41911896	+	Silent	SNP	T	T	C			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr22:41911896T>C	ENST00000216254.4	+	6	832	c.810T>C	c.(808-810)ccT>ccC	p.P270P	ACO2_ENST00000396512.3_Silent_p.P270P|ACO2_ENST00000466237.1_3'UTR	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	270				P -> H (in Ref. 6; AAH26196). {ECO:0000305}.	cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ACCACGGGCCTGGTGTAGACT	0.607																																																0													63	48	53					22																	41911896		2203	4300	6503	SO:0001819	synonymous_variant	50			AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"aconitate hydratase, mitochondrial"	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.810T>C	chr22.hg19:g.41911896T>C			O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	ENST00000216254.4	hg19	CCDS14017.1																																																																																				0.607	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		C	41911896	T	C	41911896	2	2	84	1	0	0	0	0	0	0	0	1	147	1567	55	3		3	ACO2	22	41911896	Silent	SNP	T	TCGA-A4-A5DU-01A-11D-A28G-10		41911896	9392670	30	5669											
TMEM52	339456	hgsc.bcm.edu	37	1	1850654	1850654	+	Silent	SNP	G	G	C			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr1:1850654G>C	ENST00000310991.3	-	1	58	c.51C>G	c.(49-51)ctC>ctG	p.L17L	TMEM52_ENST00000378602.3_5'Flank	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	17						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ggagcggcaggagcggcagca	0.771																																																0													1	2	1					1																	1850654		671	1684	2355	SO:0001819	synonymous_variant	339456			AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.51C>G	chr1.hg19:g.1850654G>C			Q4VXS6|Q6UX25	Silent	SNP	ENST00000310991.3	hg19	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	4.530	0.098402	0.08681	.	.	ENSG00000178821	ENST00000378598	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.39489	0.1080	.	.	.	0.22446	N	0.999091	.	.	.	.	.	.	T	0.39035	-0.9633	4	0.87932	D	0	.	.	.	.	.	.	.	.	C	15	.	ENSP00000367861:S15C	S	-	2	0	TMEM52	1840514	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	0.286000	0.18902	0.192000	0.20272	0.195000	0.17529	TCC		0.771	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		C	1850654	G	C	1850654	2	2	85	1	0	0	0	0	0	0	0	1	16183	1161	41	4		4	TMEM52	1	1850654	Silent	SNP	G	TCGA-A4-A5XZ-01A-11D-A31X-10		1850654	247399967	1	5670											
PRKCZ	5590	hgsc.bcm.edu	37	1	2066777	2066777	+	5'UTR	SNP	C	C	T			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr1:2066777C>T	ENST00000400921.2	+	0	545				PRKCZ_ENST00000400920.1_5'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta						actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	AAGCCAAGCGCTTTAACAGGG	0.552																																																0													48	48	48					1																	2066777		2203	4300	6503	SO:0001623	5_prime_UTR_variant	5590			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.-139C>T	chr1.hg19:g.2066777C>T			A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	ENST00000400921.2	hg19	CCDS41229.1																																																																																				0.552	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		T	2066777	C	T	2066777	1	4	85	0	1	0	0	0	0	0	0	0	12522	784	28	2		2	PRKCZ	1	2066777	5'UTR	SNP	C	TCGA-A4-A5XZ-01A-11D-A31X-10	216123	2066777	247183844	2	5671											
ZNF644	84146	hgsc.bcm.edu	37	1	91403569	91403569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr1:91403569G>T	ENST00000370440.1	-	4	3378	c.3161C>A	c.(3160-3162)tCa>tAa	p.S1054*	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.S1054*|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1054					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AACATGATTTGATAATCCAAT	0.363																																																0													81	80	81					1																	91403569		2203	4300	6503	SO:0001587	stop_gained	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3161C>A	chr1.hg19:g.91403569G>T	ENSP00000359469:p.Ser1054*		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	ENST00000370440.1	hg19	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	41	9.121790	0.99073	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.694	20.1634	0.98142	0.0:0.0:1.0:0.0	.	.	.	.	X	1054;1054;626	.	ENSP00000337008:S1054X	S	-	2	0	ZNF644	91176157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.294000	0.96088	2.773000	0.95371	0.655000	0.94253	TCA		0.363	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		T	91403569	G	T	91403569	4	4	85	1	0	0	0	0	0	1	0	0	18065	1294	45	4	834	4	ZNF644	1	91403569	Nonsense_Mutation	SNP	G	TCGA-A4-A5XZ-01A-11D-A31X-10	89336792	91403569	157847052	3	5672											
SUSD4	55061	hgsc.bcm.edu	37	1	223536686	223536686	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr1:223536686T>C	ENST00000343846.3	-	1	715	c.82A>G	c.(82-84)Aga>Gga	p.R28G	SUSD4_ENST00000344029.6_Missense_Mutation_p.R28G|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366877.3_Missense_Mutation_p.R28G|SUSD4_ENST00000366878.4_Missense_Mutation_p.R28G|SUSD4_ENST00000494793.2_Missense_Mutation_p.R28G|SUSD4_ENST00000484758.2_Missense_Mutation_p.R28G|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	28						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCCAAGAGTCTCTGGGGGGAC	0.597																																																0													32	32	32					1																	223536686		2202	4299	6501	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.82A>G	chr1.hg19:g.223536686T>C	ENSP00000344219:p.Arg28Gly		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	hg19	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.722459	0.68959	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029;ENST00000342943;ENST00000366877	T;T;T	0.38560	1.18;1.18;1.13	4.86	4.86	0.63082	.	0.000000	0.46758	D	0.000278	T	0.43322	0.1242	N	0.14661	0.345	0.31376	N	0.679575	D;D;D	0.63880	0.987;0.992;0.993	D;D;P	0.71656	0.942;0.974;0.787	T	0.50939	-0.8768	10	0.66056	D	0.02	-11.375	8.8024	0.34916	0.0:0.0:0.1902:0.8098	.	28;28;28	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	G	28	ENSP00000344219:R28G;ENSP00000355843:R28G;ENSP00000339926:R28G	ENSP00000271787:R28G	R	-	1	2	SUSD4	221603309	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.992000	0.56980	1.800000	0.52685	0.459000	0.35465	AGA		0.597	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		C	223536686	T	C	223536686	3	2	85	1	0	0	0	0	1	0	0	0	15415	1559	54	3	1575	3	SUSD4	1	223536686	Missense_Mutation	SNP	T	TCGA-A4-A5XZ-01A-11D-A31X-10	132133117	223536686	25713935	4	5673											
CLEC4F	165530	hgsc.bcm.edu	37	2	71036918	71036918	+	Silent	SNP	G	G	A			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr2:71036918G>A	ENST00000272367.2	-	6	1687	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S	CLEC4F_ENST00000426626.1_Silent_p.S537S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	537	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TCCAGCGCCAGGAGCCCTCTG	0.552																																					Colon(107;10 2157 6841 26035)											0													156	141	146					2																	71036918		2203	4300	6503	SO:0001819	synonymous_variant	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1611C>T	chr2.hg19:g.71036918G>A			A4QPA5	Silent	SNP	ENST00000272367.2	hg19	CCDS1910.1																																																																																				0.552	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		A	71036918	G	A	71036918	2	1	85	1	0	0	0	0	0	0	0	1	3518	987	35	2		2	CLEC4F	2	71036918	Silent	SNP	G	TCGA-A4-A5XZ-01A-11D-A31X-10		71036918	172162455	5	5674											
HDLBP	3069	hgsc.bcm.edu	37	2	242196033	242196033	+	Silent	SNP	T	T	C	rs200251201		TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr2:242196033T>C	ENST00000391975.1	-	6	866	c.639A>G	c.(637-639)ttA>ttG	p.L213L	HDLBP_ENST00000310931.4_Silent_p.L213L|HDLBP_ENST00000427183.2_Silent_p.L249L|HDLBP_ENST00000391976.2_Silent_p.L213L	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	213	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CAGAGATGAGTAAGACTTCAT	0.567																																																0													176	156	163					2																	242196033		2203	4300	6503	SO:0001819	synonymous_variant	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.639A>G	chr2.hg19:g.242196033T>C			B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	hg19	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.630|4.630	0.117115|0.117115	0.08881|0.08881	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000453141	.|.	.|.	.|.	5.79|5.79	-0.967|-0.967	0.10316|0.10316	.|.	.|.	.|.	.|.	.|.	T|T	0.42223|0.42223	0.1193|0.1193	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.29701|0.29701	-1.0003|-1.0003	4|4	.|.	.|.	.|.	-20.9924|-20.9924	2.4822|2.4822	0.04590|0.04590	0.1601:0.3764:0.3089:0.1546|0.1601:0.3764:0.3089:0.1546	.|.	.|.	.|.	.|.	A|C	91|114	.|.	.|.	T|Y	-|-	1|2	0|0	HDLBP|HDLBP	241844706|241844706	0.522000|0.522000	0.26266|0.26266	0.991000|0.991000	0.47740|0.47740	0.427000|0.427000	0.31564|0.31564	-0.124000|-0.124000	0.10595|0.10595	0.095000|0.095000	0.17434|0.17434	-0.326000|-0.326000	0.08463|0.08463	ACT|TAC		0.567	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		C	242196033	T	C	242196033	2	2	85	1	0	0	0	0	0	0	0	1	7027	1635	57	3		3	HDLBP	2	242196033	Silent	SNP	T	TCGA-A4-A5XZ-01A-11D-A31X-10	171159115	242196033	1003340	6	5675											
ACOX2	8309	hgsc.bcm.edu	37	3	58519841	58519842	+	Frame_Shift_Ins	INS	-	-	TATATTT			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr3:58519841_58519842insTATATTT	ENST00000302819.5	-	4	645_646	c.354_355insAAATATA	c.(352-357)atacacfs	p.H119fs	ACOX2_ENST00000459701.2_Frame_Shift_Ins_p.H119fs	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	119					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AAGACTCTGTGTATATTTAAGG	0.54																																																0																																										SO:0001589	frameshift_variant	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.348_354dupAAATATA	chr3.hg19:g.58519842_58519848dupTATATTT	ENSP00000307697:p.His119fs		A6NF16|B2R8U5	Frame_Shift_Ins	INS	ENST00000302819.5	hg19	CCDS33775.1																																																																																				0.54	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			TATATTT	58519842	-	TATATTT	58519841	7	5	85	1	0	1	1	0	0	0	0	0	159	1377	48	0	1738	0	ACOX2	3	58519841	Frame_Shift_Ins	INS	-	TCGA-A4-A5XZ-01A-11D-A31X-10		58519841	139502589	7	5676											
CADM2	253559	hgsc.bcm.edu	37	3	85851274	85851274	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr3:85851274G>C	ENST00000407528.2	+	2	201	c.139G>C	c.(139-141)Gat>Cat	p.D47H	CADM2_ENST00000405615.2_Missense_Mutation_p.D49H|CADM2-AS2_ENST00000467225.1_RNA|CADM2_ENST00000383699.3_Missense_Mutation_p.D56H	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	47	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGCAGGGTTGATCAAAATGA	0.408																																																0													90	75	80					3																	85851274		2203	4300	6503	SO:0001583	missense	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.139G>C	chr3.hg19:g.85851274G>C	ENSP00000384575:p.Asp47His		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	hg19	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343676	0.61073	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.64991	-0.13;-0.13;-0.13	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.162021	0.53938	D	0.000054	T	0.64811	0.2632	L	0.35542	1.07	0.80722	D	1	P;P;P	0.50066	0.805;0.854;0.931	P;P;P	0.53689	0.591;0.517;0.732	T	0.59500	-0.7443	10	0.25751	T	0.34	.	19.2384	0.93871	0.0:0.0:1.0:0.0	.	49;56;47	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	H	56;47;49	ENSP00000373200:D56H;ENSP00000384575:D47H;ENSP00000384193:D49H	ENSP00000373200:D56H	D	+	1	0	CADM2	85933964	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.420000	0.97426	2.621000	0.88768	0.544000	0.68410	GAT		0.408	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		C	85851274	G	C	85851274	3	2	85	1	0	0	0	0	1	0	0	0	2569	1290	45	4	216	4	CADM2	3	85851274	Missense_Mutation	SNP	G	TCGA-A4-A5XZ-01A-11D-A31X-10	27331433	85851274	112171156	8	5677											
ALDH1L1	10840	hgsc.bcm.edu	37	3	125826081	125826081	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr3:125826081A>C	ENST00000393434.2	-	21	2705	c.2356T>G	c.(2356-2358)Ttt>Gtt	p.F786V	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.F796V|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.F786V|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.F685V|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	786	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GTTGGCTCAAAGAAGAACCCT	0.557																																																0													130	115	120					3																	125826081		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2356T>G	chr3.hg19:g.125826081A>C	ENSP00000377083:p.Phe786Val		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	hg19	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660489	0.29515	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	3.98	3.98	0.46160	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	N	0.00450	-1.49	0.80722	D	1	P;D;P	0.54772	0.755;0.968;0.501	P;D;P	0.63793	0.81;0.918;0.673	T	0.65203	-0.6225	10	0.27082	T	0.32	.	10.8723	0.46891	1.0:0.0:0.0:0.0	.	685;321;786	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	V	796;786;685;786	ENSP00000273450:F796V;ENSP00000420293:F786V;ENSP00000395881:F685V;ENSP00000377083:F786V	ENSP00000273450:F796V	F	-	1	0	ALDH1L1	127308771	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.579000	0.46059	1.677000	0.50941	0.260000	0.18958	TTT		0.557	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		C	125826081	A	C	125826081	3	2	85	1	0	0	0	0	1	0	0	0	494	72	3	5	364	5	ALDH1L1	3	125826081	Missense_Mutation	SNP	A	TCGA-A4-A5XZ-01A-11D-A31X-10	39974807	125826081	72196349	9	5678											
DDX60L	91351	hgsc.bcm.edu	37	4	169382991	169382991	+	Silent	SNP	C	C	T	rs17612630	byFrequency	TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr4:169382991C>T	ENST00000511577.1	-	5	712	c.465G>A	c.(463-465)acG>acA	p.T155T	DDX60L_ENST00000505890.1_Silent_p.T155T|DDX60L_ENST00000260184.7_Silent_p.T155T			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	155							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TAAAAAGGTACGTTTGTAAAT	0.368																																																0													59	53	55					4																	169382991		1850	4090	5940	SO:0001819	synonymous_variant	91351			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.465G>A	chr4.hg19:g.169382991C>T			Q96ND6	Silent	SNP	ENST00000511577.1	hg19																																																																																					0.368	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		T	169382991	C	T	169382991	2	4	85	1	0	0	0	0	0	0	0	1	4381	523	19	1		1	DDX60L	4	169382991	Silent	SNP	C	TCGA-A4-A5XZ-01A-11D-A31X-10		169382991	21771285	10	5679											
IK	3550	hgsc.bcm.edu	37	5	140034136	140034136	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr5:140034136A>C	ENST00000417647.2	+	7	694	c.555A>C	c.(553-555)gaA>gaC	p.E185D		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	185	Poly-Glu.				cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAGAGGAAGAGGAACTGA	0.388																																																0													44	44	44					5																	140034136		1831	4083	5914	SO:0001583	missense	3550			BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.555A>C	chr5.hg19:g.140034136A>C	ENSP00000396301:p.Glu185Asp		Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	hg19	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326795	0.60743	.	.	ENSG00000113141	ENST00000417647;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.86	1.66	0.24008	RED-like, N-terminal (1);	0.042187	0.85682	D	0.000000	T	0.32255	0.0823	N	0.17674	0.51	0.48975	D	0.999737	B;B	0.24132	0.01;0.098	B;B	0.27500	0.026;0.08	T	0.04509	-1.0946	9	0.20519	T	0.43	.	7.8062	0.29204	0.5957:0.0:0.4043:0.0	.	185;185	Q9UK43;Q13123	.;RED_HUMAN	D	185	.	ENSP00000261812:E185D	E	+	3	2	IK	140014320	0.973000	0.33851	1.000000	0.80357	0.990000	0.78478	0.251000	0.18257	0.653000	0.30826	0.460000	0.39030	GAA		0.388	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		C	140034136	A	C	140034136	3	2	85	1	0	0	0	0	1	0	0	0	7610	69	3	5	581	5	IK	5	140034136	Missense_Mutation	SNP	A	TCGA-A4-A5XZ-01A-11D-A31X-10		140034136	40881124	11	5680											
PCDHA12	56137	hgsc.bcm.edu	37	5	140256291	140256291	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr5:140256291G>A	ENST00000398631.2	+	1	1234	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T	PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	412	Cadherin 4. {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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGCGCCCTGGACCG	0.607																																					Pancreas(113;759 1672 13322 24104 50104)											0													196	189	192					5																	140256291		2203	4300	6503	SO:0001583	missense	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1234G>A	chr5.hg19:g.140256291G>A	ENSP00000381628:p.Ala412Thr		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	hg19	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438589	0.25900	.	.	ENSG00000251664	ENST00000398631	T	0.02682	4.2	4.81	-1.86	0.07760	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02304	0.0071	L	0.35593	1.075	0.09310	N	1	B;B	0.33528	0.056;0.416	B;B	0.37550	0.042;0.253	T	0.45071	-0.9286	9	0.33141	T	0.24	.	0.7087	0.00920	0.22:0.1806:0.3273:0.2721	.	412;412	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	412	ENSP00000381628:A412T	ENSP00000381628:A412T	A	+	1	0	PCDHA12	140236475	0.000000	0.05858	0.001000	0.08648	0.862000	0.49288	-1.193000	0.03049	-0.044000	0.13491	0.655000	0.94253	GCC		0.607	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		A	140256291	G	A	140256291	3	1	85	1	0	0	0	0	1	0	0	0	11524	1087	38	1	1236	1	PCDHA12	5	140256291	Missense_Mutation	SNP	G	TCGA-A4-A5XZ-01A-11D-A31X-10	222155	140256291	40658969	12	5681											
NFYA	4800	hgsc.bcm.edu	37	6	41059422	41059422	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr6:41059422G>A	ENST00000341376.6	+	7	904	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	NFYA_ENST00000353205.5_Missense_Mutation_p.G206R|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	235					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAATTCAGGAGGGATGGTCAT	0.418																																																0													229	209	216					6																	41059422		2203	4300	6503	SO:0001583	missense	4800				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.703G>A	chr6.hg19:g.41059422G>A	ENSP00000345702:p.Gly235Arg		Q8IXU0	Missense_Mutation	SNP	ENST00000341376.6	hg19	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975651	0.92919	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.71702	0.3371	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72364	-0.4316	9	0.62326	D	0.03	-10.6151	18.9483	0.92630	0.0:0.0:1.0:0.0	.	206;235	P23511-2;P23511	.;NFYA_HUMAN	R	235;206	.	ENSP00000345702:G235R	G	+	1	0	NFYA	41167400	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.760000	0.98935	2.720000	0.93068	0.655000	0.94253	GGG		0.418	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			A	41059422	G	A	41059422	3	1	85	1	0	0	0	0	1	0	0	0	10391	1000	35	2	725	2	NFYA	6	41059422	Missense_Mutation	SNP	G	TCGA-A4-A5XZ-01A-11D-A31X-10		41059422	130055645	13	5682											
YIPF3	25844	hgsc.bcm.edu	37	6	43483379	43483379	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr6:43483379delT	ENST00000372422.2	-	3	531	c.349delA	c.(349-351)atcfs	p.I117fs	POLR1C_ENST00000304004.3_5'Flank|POLR1C_ENST00000372344.2_5'Flank|POLR1C_ENST00000372389.3_5'Flank|YIPF3_ENST00000506469.1_Frame_Shift_Del_p.I123fs	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	117					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGTCTGAGGATGTCGATGTTG	0.517																																																0													129	120	123					6																	43483379		2203	4300	6503	SO:0001589	frameshift_variant	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"Yip1 domain family"	21023	protein-coding gene	gene with protein product		609775	"chromosome 6 open reading frame 109"	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.349delA	chr6.hg19:g.43483379delT	ENSP00000361499:p.Ile117fs		Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Frame_Shift_Del	DEL	ENST00000372422.2	hg19	CCDS4899.1																																																																																				0.517	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		-	43483379	T	-	43483379	7	5	85	1	0	1	0	1	0	0	0	0	17484	1464	51	0	731	0	YIPF3	6	43483379	Frame_Shift_Del	DEL	T	TCGA-A4-A5XZ-01A-11D-A31X-10	2423957	43483379	127631688	14	5683											
NOD1	10392	hgsc.bcm.edu	37	7	30492406	30492406	+	Silent	SNP	G	G	A			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr7:30492406G>A	ENST00000222823.4	-	6	1152	c.627C>T	c.(625-627)tcC>tcT	p.S209S	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	209	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GTAGCAGCATGGACTTGCCCA	0.612																																																0													89	86	87					7																	30492406		2203	4300	6503	SO:0001819	synonymous_variant	10392			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.627C>T	chr7.hg19:g.30492406G>A			B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	hg19	CCDS5427.1																																																																																				0.612	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			A	30492406	G	A	30492406	2	1	85	1	0	0	0	0	0	0	0	1	10518	1335	47	2		2	NOD1	7	30492406	Silent	SNP	G	TCGA-A4-A5XZ-01A-11D-A31X-10		30492406	128646257	15	5684											
OGDH	4967	hgsc.bcm.edu	37	7	44747231	44747232	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr7:44747231_44747232insA	ENST00000222673.5	+	22	2889_2890	c.2847_2848insA	c.(2848-2850)aatfs	p.N950fs	OGDH_ENST00000543843.1_Frame_Shift_Ins_p.N901fs|OGDH_ENST00000444676.1_Frame_Shift_Ins_p.N965fs|OGDH_ENST00000449767.1_Frame_Shift_Ins_p.N946fs|OGDH_ENST00000439616.2_Frame_Shift_Ins_p.N800fs|OGDH_ENST00000447398.1_Frame_Shift_Ins_p.N961fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	950					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AGAAGTACCCCAATGCTGAGCT	0.574																																																0																																										SO:0001589	frameshift_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2849dupA	chr7.hg19:g.44747233_44747233dupA	ENSP00000222673:p.Asn950fs		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Ins	INS	ENST00000222673.5	hg19	CCDS34627.1																																																																																				0.574	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			A	44747232	-	A	44747231	7	5	85	1	0	1	1	0	0	0	0	0	10841	581	21	0	3102	0	OGDH	7	44747231	Frame_Shift_Ins	INS	-	TCGA-A4-A5XZ-01A-11D-A31X-10	14254825	44747231	114391432	16	5685											
ZNF273	10793	hgsc.bcm.edu	37	7	64388953	64388953	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr7:64388953C>G	ENST00000476120.1	+	4	1318	c.1247C>G	c.(1246-1248)aCt>aGt	p.T416S	ZNF273_ENST00000319636.5_Missense_Mutation_p.T351S|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CGGTCCACAACTCTTACTAAA	0.348																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)											0													40	44	42					7																	64388953		2203	4298	6501	SO:0001583	missense	10793			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1247C>G	chr7.hg19:g.64388953C>G	ENSP00000418719:p.Thr416Ser		B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	hg19	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	5.424	0.263316	0.10294	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.03358	3.96;3.96	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02230	0.0069	N	0.11724	0.165	0.09310	N	1	B	0.19445	0.036	B	0.25405	0.06	T	0.50250	-0.8850	9	0.12103	T	0.63	.	7.3527	0.26700	0.0:1.0:0.0:0.0	.	416	Q14593	ZN273_HUMAN	S	416;351	ENSP00000418719:T416S;ENSP00000324518:T351S	ENSP00000324518:T351S	T	+	2	0	ZNF273	64026388	0.000000	0.05858	0.757000	0.31301	0.755000	0.42902	-6.036000	0.00084	0.202000	0.20498	0.205000	0.17691	ACT		0.348	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			G	64388953	C	G	64388953	3	3	85	1	0	0	0	0	1	0	0	0	17813	565	20	4	1261	4	ZNF273	7	64388953	Missense_Mutation	SNP	C	TCGA-A4-A5XZ-01A-11D-A31X-10	19641722	64388953	94749710	17	5686											
ABCB4	5244	hgsc.bcm.edu	37	7	87049331	87049331	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr7:87049331T>C	ENST00000265723.4	-	19	2488	c.2377A>G	c.(2377-2379)Aaa>Gaa	p.K793E	ABCB4_ENST00000358400.3_Missense_Mutation_p.K793E|ABCB4_ENST00000359206.3_Missense_Mutation_p.K793E|ABCB4_ENST00000545634.1_Missense_Mutation_p.K793E|ABCB4_ENST00000453593.1_Missense_Mutation_p.K793E	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	793	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGCATTGCTTTAAAAGCCATT	0.423																																																0													183	167	173					7																	87049331		2203	4300	6503	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2377A>G	chr7.hg19:g.87049331T>C	ENSP00000265723:p.Lys793Glu		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	hg19	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.299295	0.40694	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57	6.03	2.37	0.29283	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.390503	0.30003	N	0.010651	D	0.84543	0.5495	L	0.58101	1.795	0.31324	N	0.685702	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.16722	0.016;0.007;0.012	T	0.80286	-0.1446	10	0.62326	D	0.03	-9.0118	6.8919	0.24234	0.0:0.1317:0.1275:0.7408	.	793;793;793	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	E	793	ENSP00000352135:K793E;ENSP00000351172:K793E;ENSP00000265723:K793E;ENSP00000392983:K793E;ENSP00000437465:K793E	ENSP00000265723:K793E	K	-	1	0	ABCB4	86887267	0.999000	0.42202	0.992000	0.48379	0.639000	0.38242	1.584000	0.36589	0.497000	0.27926	-0.256000	0.11100	AAA		0.423	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		C	87049331	T	C	87049331	3	2	85	1	0	0	0	0	1	0	0	0	43	1763	61	3	1523	3	ABCB4	7	87049331	Missense_Mutation	SNP	T	TCGA-A4-A5XZ-01A-11D-A31X-10	22660378	87049331	72089332	18	5687											
ARHGAP22	58504	hgsc.bcm.edu	37	10	49659052	49659052	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr10:49659052C>G	ENST00000249601.4	-	9	1416	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q	ARHGAP22_ENST00000477708.2_Missense_Mutation_p.E207Q|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E215Q|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E390Q|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E380Q|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E284Q|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E265Q	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	374					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGGTGACCTCCTCGGAGCCC	0.731																																																0													8	9	9					10																	49659052		2008	4065	6073	SO:0001583	missense	58504			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1120G>C	chr10.hg19:g.49659052C>G	ENSP00000249601:p.Glu374Gln		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	hg19	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580505	0.65992	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.37915	2.7;2.36;1.17;1.51;2.34;2.66;2.7	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.62196	0.2408	M	0.81942	2.565	0.50039	D	0.999846	P;D;D;D;D;D	0.89917	0.621;1.0;0.972;1.0;0.959;1.0	B;D;P;D;P;D	0.74348	0.326;0.972;0.742;0.959;0.882;0.983	T	0.66352	-0.5945	10	0.59425	D	0.04	.	15.8862	0.79251	0.0:1.0:0.0:0.0	.	380;374;390;374;284;207	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	Q	374;265;215;207;284;380;390	ENSP00000249601:E374Q;ENSP00000363287:E265Q;ENSP00000363285:E215Q;ENSP00000422868:E207Q;ENSP00000410054:E284Q;ENSP00000416701:E380Q;ENSP00000412461:E390Q	ENSP00000249601:E374Q	E	-	1	0	ARHGAP22	49329058	1.000000	0.71417	0.573000	0.28510	0.349000	0.29174	6.759000	0.74934	2.440000	0.82611	0.313000	0.20887	GAG		0.731	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		G	49659052	C	G	49659052	3	3	85	1	0	0	0	0	1	0	0	0	872	864	30	4	984	4	ARHGAP22	10	49659052	Missense_Mutation	SNP	C	TCGA-A4-A5XZ-01A-11D-A31X-10		49659052	85875695	19	5688											
DDN	23109	hgsc.bcm.edu	37	12	49390815	49390815	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr12:49390815A>T	ENST00000421952.2	-	2	1865	c.1844T>A	c.(1843-1845)gTg>gAg	p.V615E	RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	615	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GATACGGGACACGGCTTCTCG	0.721																																																0													5	5	5					12																	49390815		2080	4038	6118	SO:0001583	missense	23109			AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1844T>A	chr12.hg19:g.49390815A>T	ENSP00000390590:p.Val615Glu			Missense_Mutation	SNP	ENST00000421952.2	hg19	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581706	0.86748	.	.	ENSG00000181418	ENST00000421952	T	0.58940	0.3	4.12	4.12	0.48240	.	0.000000	0.41396	D	0.000887	T	0.63462	0.2513	L	0.32530	0.975	0.43936	D	0.99659	D	0.76494	0.999	D	0.71656	0.974	T	0.66783	-0.5836	10	0.87932	D	0	-0.1503	11.4668	0.50243	1.0:0.0:0.0:0.0	.	615	O94850	DEND_HUMAN	E	615	ENSP00000390590:V615E	ENSP00000390590:V615E	V	-	2	0	DDN	47677082	0.983000	0.35010	1.000000	0.80357	0.979000	0.70002	1.446000	0.35090	2.105000	0.64084	0.459000	0.35465	GTG		0.721	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			T	49390815	A	T	49390815	3	4	85	1	0	0	0	0	1	0	0	0	4335	159	6	5	295	5	DDN	12	49390815	Missense_Mutation	SNP	A	TCGA-A4-A5XZ-01A-11D-A31X-10		49390815	84461080	20	5689											
ATP2B1	490	hgsc.bcm.edu	37	12	89992987	89992988	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr12:89992987_89992988insAA	ENST00000428670.3	-	20	3713_3714	c.3257_3258insTT	c.(3256-3258)ttafs	p.L1086fs	ATP2B1_ENST00000261173.2_Frame_Shift_Ins_p.L1086fs|ATP2B1_ENST00000393164.2_Frame_Shift_Ins_p.L829fs|ATP2B1_ENST00000348959.3_Frame_Shift_Ins_p.L1050fs|ATP2B1_ENST00000359142.3_Frame_Shift_Ins_p.L1086fs			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1086					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CATCCTCTGCTAATTCCTCCTC	0.436																																																0																																										SO:0001589	frameshift_variant	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3256_3257dupTT	chr12.hg19:g.89992988_89992989dupAA	ENSP00000392043:p.Leu1086fs		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Frame_Shift_Ins	INS	ENST00000428670.3	hg19	CCDS9035.1																																																																																				0.436	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		AA	89992988	-	AA	89992987	7	5	85	1	0	1	1	0	0	0	0	0	1139	1519	53	0	570	0	ATP2B1	12	89992987	Frame_Shift_Ins	INS	-	TCGA-A4-A5XZ-01A-11D-A31X-10	40602172	89992987	43858908	21	5690											
THSD1	55901	hgsc.bcm.edu	37	13	52971551	52971551	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr13:52971551delG	ENST00000258613.4	-	3	1015	c.837delC	c.(835-837)cccfs	p.P279fs	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Frame_Shift_Del_p.P279fs	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	279					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CAGGGTATCTGGGGGCCTCCT	0.537																																																0													75	74	74					13																	52971551		2203	4300	6503	SO:0001589	frameshift_variant	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.837delC	chr13.hg19:g.52971551delG	ENSP00000258613:p.Pro279fs		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Frame_Shift_Del	DEL	ENST00000258613.4	hg19	CCDS9432.1																																																																																				0.537	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			-	52971551	G	-	52971551	7	5	85	1	0	1	0	1	0	0	0	0	15882	1335	47	0	1733	0	THSD1	13	52971551	Frame_Shift_Del	DEL	G	TCGA-A4-A5XZ-01A-11D-A31X-10		52971551	62198327	22	5691											
ZIC2	7546	hgsc.bcm.edu	37	13	100635322	100635322	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr13:100635322G>A	ENST00000376335.3	+	1	1297	c.1004G>A	c.(1003-1005)tGc>tAc	p.C335Y		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	335			C -> F (in HPE5). {ECO:0000269|PubMed:19177455}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCCTTCCCCTGCCCCTTCCCG	0.617																																					Pancreas(97;119 1522 31925 44771 48764)											0													81	89	86					13																	100635322		2203	4300	6503	SO:0001583	missense	7546			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1004G>A	chr13.hg19:g.100635322G>A	ENSP00000365514:p.Cys335Tyr		Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	hg19	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224811	0.79576	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.85088	-1.94	4.69	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94910	0.8064	10	0.87932	D	0	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	335	O95409	ZIC2_HUMAN	Y	335;84	ENSP00000365514:C335Y	ENSP00000365514:C335Y	C	+	2	0	ZIC2	99433323	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.601000	0.98297	2.610000	0.88304	0.561000	0.74099	TGC		0.617	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		A	100635322	G	A	100635322	3	1	85	1	0	0	0	0	1	0	0	0	17684	1319	46	2	1006	2	ZIC2	13	100635322	Missense_Mutation	SNP	G	TCGA-A4-A5XZ-01A-11D-A31X-10	47663771	100635322	14534556	23	5692											
SCFD1	23256	hgsc.bcm.edu	37	14	31175075	31175075	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr14:31175075A>T	ENST00000458591.2	+	18	1764	c.1537A>T	c.(1537-1539)Acc>Tcc	p.T513S	SCFD1_ENST00000544052.2_Missense_Mutation_p.T446S|SCFD1_ENST00000554486.1_3'UTR|SCFD1_ENST00000541123.1_Missense_Mutation_p.T328S|SCFD1_ENST00000396629.2_Missense_Mutation_p.T421S|SCFD1_ENST00000421551.3_Missense_Mutation_p.T454S	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	513					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TGGCAGCACTACCACTAAACC	0.373																																																0													84	87	86					14																	31175075		2203	4300	6503	SO:0001583	missense	23256			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1537A>T	chr14.hg19:g.31175075A>T	ENSP00000390783:p.Thr513Ser		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	hg19	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	9.070	0.996695	0.19043	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.71	4.58	0.56647	.	0.244841	0.38548	N	0.001656	T	0.38188	0.1031	N	0.00985	-1.075	0.33038	D	0.531027	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.12156	0.003;0.002;0.007;0.005	T	0.43589	-0.9382	10	0.15499	T	0.54	-35.8251	3.8893	0.09111	0.7124:0.0:0.2876:0.0	.	454;446;421;513	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	S	513;446;454;328;421	ENSP00000390783:T513S;ENSP00000443010:T446S;ENSP00000388078:T454S;ENSP00000443537:T328S;ENSP00000379870:T421S	ENSP00000309417:T521S	T	+	1	0	SCFD1	30244826	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.464000	0.53057	2.175000	0.68902	0.477000	0.44152	ACC		0.373	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		T	31175075	A	T	31175075	3	4	85	1	0	0	0	0	1	0	0	0	13895	391	14	5	1607	5	SCFD1	14	31175075	Missense_Mutation	SNP	A	TCGA-A4-A5XZ-01A-11D-A31X-10		31175075	76174465	24	5693											
ZFYVE26	23503	hgsc.bcm.edu	37	14	68252617	68252617	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr14:68252617C>T	ENST00000347230.4	-	18	3400	c.3262G>A	c.(3262-3264)Gat>Aat	p.D1088N	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.D1088N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1088					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGACCTGATCTAGCTGCTGG	0.557																																																0													218	222	221					14																	68252617		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3262G>A	chr14.hg19:g.68252617C>T	ENSP00000251119:p.Asp1088Asn		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	hg19	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817287	0.90790	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.30981	1.66;1.51	5.38	5.38	0.77491	.	0.530450	0.20377	N	0.093539	T	0.36908	0.0984	L	0.47716	1.5	0.40782	D	0.983189	P;P	0.39480	0.675;0.546	B;B	0.43658	0.426;0.164	T	0.21621	-1.0240	10	0.59425	D	0.04	0.0013	16.9198	0.86161	0.0:1.0:0.0:0.0	.	1088;1088	G3V2D8;Q68DK2	.;ZFY26_HUMAN	N	1088;1067;1088	ENSP00000251119:D1088N;ENSP00000450603:D1088N	ENSP00000251119:D1088N	D	-	1	0	ZFYVE26	67322370	0.998000	0.40836	0.480000	0.27341	0.939000	0.58152	3.840000	0.55843	2.512000	0.84698	0.655000	0.94253	GAT		0.557	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		T	68252617	C	T	68252617	3	4	85	1	0	0	0	0	1	0	0	0	17673	913	32	2	4457	2	ZFYVE26	14	68252617	Missense_Mutation	SNP	C	TCGA-A4-A5XZ-01A-11D-A31X-10	37077542	68252617	39096923	25	5694											
EXD2	55218	hgsc.bcm.edu	37	14	69697234	69697234	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr14:69697234G>C	ENST00000409018.3	+	4	764	c.636G>C	c.(634-636)gaG>gaC	p.E212D	EXD2_ENST00000449989.1_Missense_Mutation_p.E87D|EXD2_ENST00000409242.1_Missense_Mutation_p.E87D|EXD2_ENST00000312994.5_Missense_Mutation_p.E212D|EXD2_ENST00000409014.1_Missense_Mutation_p.E87D|EXD2_ENST00000409675.1_Missense_Mutation_p.E87D|EXD2_ENST00000409949.1_Missense_Mutation_p.E87D|EXD2_ENST00000492815.1_3'UTR	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	212	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCCTCGCTGAGACTGTTTTGA	0.448																																																0													178	168	172					14																	69697234		2203	4300	6503	SO:0001583	missense	55218			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.636G>C	chr14.hg19:g.69697234G>C	ENSP00000387331:p.Glu212Asp		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	hg19	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.507951	0.64410	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.33	2.49	0.30216	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.093871	0.64402	D	0.000001	T	0.70640	0.3247	M	0.75884	2.315	0.40602	D	0.981598	P;P	0.51057	0.941;0.908	P;P	0.58520	0.84;0.781	T	0.68637	-0.5356	10	0.33141	T	0.24	-25.4424	9.0491	0.36365	0.373:0.0:0.627:0.0	.	212;87	G5E947;Q9NVH0	.;EXD2_HUMAN	D	212;212;87;87;87;87;212;87;87	ENSP00000387331:E212D;ENSP00000386915:E87D;ENSP00000386762:E87D;ENSP00000386632:E87D;ENSP00000386839:E87D;ENSP00000313140:E212D;ENSP00000409089:E87D;ENSP00000392177:E87D	ENSP00000193422:E212D	E	+	3	2	EXD2	68766987	1.000000	0.71417	0.970000	0.41538	0.840000	0.47671	2.350000	0.44063	0.742000	0.32697	-0.136000	0.14681	GAG		0.448	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			C	69697234	G	C	69697234	3	2	85	1	0	0	0	0	1	0	0	0	5300	933	33	4	267	4	EXD2	14	69697234	Missense_Mutation	SNP	G	TCGA-A4-A5XZ-01A-11D-A31X-10	1444617	69697234	37652306	26	5695											
ADAM20	8748	hgsc.bcm.edu	37	14	70989617	70989617	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr14:70989617A>C	ENST00000256389.3	-	2	2252	c.2008T>G	c.(2008-2010)Tgc>Ggc	p.C670G	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	620					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TTACGGATGCAGATCTTTTCT	0.463																																																0													416	313	348					14																	70989617		2203	4300	6503	SO:0001583	missense	8748			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2008T>G	chr14.hg19:g.70989617A>C	ENSP00000256389:p.Cys670Gly		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	hg19	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051177	0.55218	.	.	ENSG00000134007	ENST00000256389	T	0.02763	4.17	4.67	4.67	0.58626	ADAM, cysteine-rich (1);	0.000000	0.42682	D	0.000667	T	0.17066	0.0410	M	0.86805	2.84	0.20196	N	0.999929	D	0.89917	1.0	D	0.91635	0.999	T	0.03166	-1.1065	10	0.87932	D	0	.	12.6491	0.56751	1.0:0.0:0.0:0.0	.	620	O43506	ADA20_HUMAN	G	670	ENSP00000256389:C670G	ENSP00000256389:C670G	C	-	1	0	ADAM20	70059370	0.764000	0.28473	0.184000	0.23157	0.040000	0.13550	4.075000	0.57584	1.856000	0.53863	0.460000	0.39030	TGC		0.463	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			C	70989617	A	C	70989617	3	2	85	1	0	0	0	0	1	0	0	0	242	188	7	5	326	5	ADAM20	14	70989617	Missense_Mutation	SNP	A	TCGA-A4-A5XZ-01A-11D-A31X-10	1292383	70989617	36359923	27	5696											
C14orf43	91748	hgsc.bcm.edu	37	14	74206660	74206660	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr14:74206660A>T	ENST00000286523.5	-	2	834	c.52T>A	c.(52-54)Ttc>Atc	p.F18I	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Missense_Mutation_p.F18I	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TGGCCCCCGAAGAGGCAACGC	0.652																																																0													44	48	47					14																	74206660		2203	4300	6503	SO:0001583	missense	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.52T>A	chr14.hg19:g.74206660A>T	ENSP00000286523:p.Phe18Ile		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	hg19	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824093	0.50739	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371;ENST00000421708	T;T;T;T	0.21734	2.0;2.0;2.0;1.99	4.96	4.96	0.65561	.	0.081627	0.51477	D	0.000084	T	0.15089	0.0364	N	0.24115	0.695	0.47737	D	0.999504	B;B	0.31318	0.319;0.319	B;B	0.27608	0.081;0.081	T	0.05666	-1.0871	10	0.72032	D	0.01	-4.5629	13.0167	0.58762	1.0:0.0:0.0:0.0	.	18;18	A0PJD3;Q6PJG2	.;CN043_HUMAN	I	18	ENSP00000377634:F18I;ENSP00000286523:F18I;ENSP00000407767:F18I;ENSP00000402380:F18I	ENSP00000286523:F18I	F	-	1	0	C14orf43	73276413	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	6.822000	0.75277	2.089000	0.63090	0.402000	0.26972	TTC		0.652	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		T	74206660	A	T	74206660	3	4	85	1	0	0	0	0	1	0	0	0	1776	72	3	5	3129	5	C14orf43	14	74206660	Missense_Mutation	SNP	A	TCGA-A4-A5XZ-01A-11D-A31X-10	3217043	74206660	33142880	28	5697											
BCL2L10	10017	hgsc.bcm.edu	37	15	52404725	52404725	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr15:52404725A>T	ENST00000561198.1	-	1	240	c.199T>A	c.(199-201)Tac>Aac	p.Y67N	BCL2L10_ENST00000260442.3_Missense_Mutation_p.Y67N			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	57					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		TAGCCGAGGTAGGCGGAGAAA	0.716																																																0													12	15	14					15																	52404725		2182	4283	6465	SO:0001583	missense	10017			AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000561198.1:c.199T>A	chr15.hg19:g.52404725A>T	ENSP00000453562:p.Tyr67Asn		Q3SX80|Q52LQ9|Q8TCS9	Missense_Mutation	SNP	ENST00000561198.1	hg19		.	.	.	.	.	.	.	.	.	.	A	16.67	3.188072	0.57909	.	.	ENSG00000137875	ENST00000260442	T	0.11930	2.73	4.61	2.26	0.28386	Apoptosis regulator, Bcl-2, BH (2);	1.152810	0.06639	N	0.760739	T	0.27559	0.0677	L	0.51422	1.61	0.09310	N	1	D	0.63880	0.993	D	0.65987	0.94	T	0.13229	-1.0517	10	0.66056	D	0.02	.	5.067	0.14587	0.7532:0.0:0.2468:0.0	.	57	Q9HD36	B2L10_HUMAN	N	67	ENSP00000260442:Y67N	ENSP00000260442:Y67N	Y	-	1	0	BCL2L10	50192017	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	0.370000	0.20433	0.800000	0.34041	0.533000	0.62120	TAC		0.716	BCL2L10-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419386.1			T	52404725	A	T	52404725	3	4	85	1	0	0	0	0	1	0	0	0	1368	420	15	5	423	5	BCL2L10	15	52404725	Missense_Mutation	SNP	A	TCGA-A4-A5XZ-01A-11D-A31X-10		52404725	50126667	29	5698											
ULK3	25989	hgsc.bcm.edu	37	15	75132623	75132623	+	Silent	SNP	C	C	T			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr15:75132623C>T	ENST00000440863.2	-	6	739	c.648G>A	c.(646-648)agG>agA	p.R216R	ULK3_ENST00000568667.1_Silent_p.R227R|ULK3_ENST00000569437.1_Silent_p.R216R	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						CCGAGAACGACCTGGAGGCAA	0.652																																																0													25	27	26					15																	75132623		1915	4138	6053	SO:0001819	synonymous_variant	25989			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.648G>A	chr15.hg19:g.75132623C>T			B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Silent	SNP	ENST00000440863.2	hg19	CCDS45305.1																																																																																				0.652	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		T	75132623	C	T	75132623	2	4	85	1	0	0	0	0	0	0	0	1	16982	506	18	2		2	ULK3	15	75132623	Silent	SNP	C	TCGA-A4-A5XZ-01A-11D-A31X-10	22727898	75132623	27398769	30	5699											
CLDN9	9080	hgsc.bcm.edu	37	16	3063765	3063765	+	Silent	SNP	C	C	A			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr16:3063765C>A	ENST00000445369.2	+	1	1309	c.402C>A	c.(400-402)atC>atA	p.I134I		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	134					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TGGTGCTCATCCCTGTGTGCT	0.662																																																0													82	80	81					16																	3063765		2198	4300	6498	SO:0001819	synonymous_variant	9080			AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"Claudins"	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.402C>A	chr16.hg19:g.3063765C>A				Silent	SNP	ENST00000445369.2	hg19	CCDS10487.1																																																																																				0.662	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		A	3063765	C	A	3063765	2	1	85	1	0	0	0	0	0	0	0	1	3494	845	30	4		4	CLDN9	16	3063765	Silent	SNP	C	TCGA-A4-A5XZ-01A-11D-A31X-10		3063765	87290988	31	5700											
FOXN1	8456	hgsc.bcm.edu	37	17	26851949	26851949	+	Frame_Shift_Del	DEL	C	C	-	rs548499213	byFrequency	TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr17:26851949delC	ENST00000226247.2	+	2	581	c.552delC	c.(550-552)ctcfs	p.L184fs	FOXN1_ENST00000579795.1_Frame_Shift_Del_p.L184fs	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	184					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GTAACGGGCTCCCCTACCCCA	0.647																																																0													25	27	26					17																	26851949		2202	4300	6502	SO:0001589	frameshift_variant	8456			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.552delC	chr17.hg19:g.26851949delC	ENSP00000226247:p.Leu184fs		B2R9Q7|O15352	Frame_Shift_Del	DEL	ENST00000226247.2	hg19	CCDS11232.1																																																																																				0.647	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			-	26851949	C	-	26851949	7	5	85	1	0	1	0	1	0	0	0	0	6021	842	30	0	558	0	FOXN1	17	26851949	Frame_Shift_Del	DEL	C	TCGA-A4-A5XZ-01A-11D-A31X-10		26851949	54343261	32	5701											
C17orf71	55181	hgsc.bcm.edu	37	17	57288259	57288259	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr17:57288259C>A	ENST00000543872.2	+	2	1111	c.847C>A	c.(847-849)Caa>Aaa	p.Q283K	SMG8_ENST00000578922.1_Missense_Mutation_p.Q283K|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.Q283K|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	283					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TCCTCGGAACCAAGACCCAGC	0.517																																																0													66	73	70					17																	57288259		2203	4300	6503	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.847C>A	chr17.hg19:g.57288259C>A	ENSP00000438748:p.Gln283Lys		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	hg19	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	8.062	0.768336	0.15983	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.41400	1.0;1.0	5.88	5.88	0.94601	.	0.345316	0.35179	N	0.003390	T	0.37732	0.1014	L	0.40543	1.245	0.43852	D	0.99644	B	0.19583	0.037	B	0.15052	0.012	T	0.09250	-1.0683	10	0.22706	T	0.39	-16.8779	19.2147	0.93772	0.0:1.0:0.0:0.0	.	283	Q8ND04	SMG8_HUMAN	K	283	ENSP00000300917:Q283K;ENSP00000438748:Q283K	ENSP00000300917:Q283K	Q	+	1	0	SMG8	54643041	0.999000	0.42202	1.000000	0.80357	0.961000	0.63080	3.993000	0.56987	2.769000	0.95229	0.655000	0.94253	CAA		0.517	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		A	57288259	C	A	57288259	3	1	85	1	0	0	0	0	1	0	0	0	1880	595	21	4	849	4	C17orf71	17	57288259	Missense_Mutation	SNP	C	TCGA-A4-A5XZ-01A-11D-A31X-10	30436310	57288259	23906951	33	5702											
POLRMT	5442	hgsc.bcm.edu	37	19	623528	623528	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr19:623528T>C	ENST00000588649.2	-	6	1300	c.1216A>G	c.(1216-1218)Atg>Gtg	p.M406V	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	406					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCTCCATGTGGAGCTGC	0.632																																																0													54	50	51					19																	623528		2203	4300	6503	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1216A>G	chr19.hg19:g.623528T>C	ENSP00000465759:p.Met406Val		O60370	Missense_Mutation	SNP	ENST00000588649.2	hg19	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.639596	0.00799	.	.	ENSG00000099821	ENST00000215591	T	0.39056	1.1	4.63	-4.26	0.03755	.	0.752409	0.12789	N	0.438968	T	0.08935	0.0221	N	0.01446	-0.86	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31280	-0.9949	10	0.02654	T	1	-12.8428	0.5899	0.00726	0.249:0.2907:0.1226:0.3377	.	406	O00411	RPOM_HUMAN	V	406	ENSP00000215591:M406V	ENSP00000215591:M406V	M	-	1	0	POLRMT	574528	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.196000	0.03041	-0.378000	0.07918	-2.005000	0.00442	ATG		0.632	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		C	623528	T	C	623528	3	2	85	1	0	0	0	0	1	0	0	0	12240	1464	51	3	2540	3	POLRMT	19	623528	Missense_Mutation	SNP	T	TCGA-A4-A5XZ-01A-11D-A31X-10		623528	58505455	34	5703											
KEAP1	9817	hgsc.bcm.edu	37	19	10610566	10610566	+	Silent	SNP	G	G	T			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr19:10610566G>T	ENST00000171111.5	-	2	691	c.144C>A	c.(142-144)ggC>ggA	p.G48G	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Silent_p.G48G	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	48					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AGGTGCGGTTGCCATGCTGGG	0.627																																																0													136	108	118					19																	10610566		2203	4300	6503	SO:0001819	synonymous_variant	9817			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.144C>A	chr19.hg19:g.10610566G>T			B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	hg19	CCDS12239.1																																																																																				0.627	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		T	10610566	G	T	10610566	2	4	85	1	0	0	0	0	0	0	0	1	8143	1306	46	4		4	KEAP1	19	10610566	Silent	SNP	G	TCGA-A4-A5XZ-01A-11D-A31X-10	9987038	10610566	48518417	35	5704											
MLL4	9757	hgsc.bcm.edu	37	19	36229181	36229181	+	Splice_Site	SNP	A	A	G			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr19:36229181A>G	ENST00000222270.7	+	37	7872		c.e37-1		IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Splice_Site	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B						chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCATCCCTGCAGGGCATCGGG	0.602																																																0													60	68	65					19																	36229181		2182	4290	6472	SO:0001630	splice_region_variant	8085			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7873-1A>G	chr19.hg19:g.36229181A>G			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Splice_Site	SNP	ENST00000222270.7	hg19	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890467	0.33348	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4398	0.67309	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AD000671.1	40921021	1.000000	0.71417	0.916000	0.36221	0.245000	0.25701	9.339000	0.96797	2.063000	0.61619	0.379000	0.24179	.		0.602	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	Intron	G	36229181	A	G	36229181	5	3	85	1	0	0	0	0	0	0	1	0	9625	202	7	3	8017	3	MLL4	19	36229181	Splice_Site	SNP	A	TCGA-A4-A5XZ-01A-11D-A31X-10	25618615	36229181	22899802	36	5705											
COL9A3	1299	hgsc.bcm.edu	37	20	61467549	61467549	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr20:61467549G>T	ENST00000343916.3	+	28	1415	c.1412G>T	c.(1411-1413)cGa>cTa	p.R471L	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	471	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TCTGGCAGTCGAGGGGAGCTG	0.716																																																0													18	24	22					20																	61467549		2201	4297	6498	SO:0001583	missense	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1412G>T	chr20.hg19:g.61467549G>T	ENSP00000341640:p.Arg471Leu		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	hg19	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448038	0.84101	.	.	ENSG00000092758	ENST00000343916	D	0.93712	-3.27	4.63	4.63	0.57726	.	0.283555	0.33127	N	0.005250	D	0.95367	0.8496	L	0.53729	1.69	0.46241	D	0.998947	D	0.89917	1.0	D	0.73380	0.98	D	0.94429	0.7648	10	0.32370	T	0.25	.	17.4821	0.87675	0.0:0.0:1.0:0.0	.	471	Q14050	CO9A3_HUMAN	L	471	ENSP00000341640:R471L	ENSP00000341640:R471L	R	+	2	0	COL9A3	60937994	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	7.254000	0.78329	2.117000	0.64856	0.561000	0.74099	CGA		0.716	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		T	61467549	G	T	61467549	3	4	85	1	0	0	0	0	1	0	0	0	3711	1058	37	4	1522	4	COL9A3	20	61467549	Missense_Mutation	SNP	G	TCGA-A4-A5XZ-01A-11D-A31X-10		61467549	1557971	37	5706											
C22orf25	128989	hgsc.bcm.edu	37	22	20030918	20030918	+	Missense_Mutation	SNP	C	C	T	rs551072560		TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chr22:20030918C>T	ENST00000327374.4	+	3	275	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	TANGO2_ENST00000401833.1_Missense_Mutation_p.P74S|TANGO2_ENST00000398042.2_Missense_Mutation_p.P33S|TANGO2_ENST00000434570.2_Missense_Mutation_p.P74S|TANGO2_ENST00000456048.1_Missense_Mutation_p.P38S|TANGO2_ENST00000432883.1_Missense_Mutation_p.P33S|TANGO2_ENST00000447208.2_Missense_Mutation_p.P33S|TANGO2_ENST00000420290.2_5'UTR|TANGO2_ENST00000401886.1_Missense_Mutation_p.P33S|TANGO2_ENST00000479679.1_3'UTR	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	33																	CTACAGCCGACCCTCCAAGTT	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20269	0.0		0.0	False		,,,				2504	0.0															0													139	142	141					22																	20030918		2203	4300	6503	SO:0001583	missense	128989				CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 25"	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.97C>T	chr22.hg19:g.20030918C>T	ENSP00000332721:p.Pro33Ser		A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Missense_Mutation	SNP	ENST00000327374.4	hg19	CCDS13772.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320659	0.41096	.	.	ENSG00000183597	ENST00000401886;ENST00000432198;ENST00000447208;ENST00000398042;ENST00000450664;ENST00000327374;ENST00000432883;ENST00000401833;ENST00000434168;ENST00000434570;ENST00000456048	T;T;T;T;T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8	4.89	3.87	0.44632	.	0.174725	0.50627	D	0.000101	T	0.57169	0.2035	M	0.92412	3.305	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.994;0.999;0.999;0.999;0.991	D;D;D;D;D;D;D	0.74674	0.984;0.984;0.932;0.984;0.984;0.975;0.933	T	0.66456	-0.5919	10	0.72032	D	0.01	-12.9932	11.3355	0.49500	0.0:0.9094:0.0:0.0906	.	33;74;33;74;33;33;33	B7Z9Q5;B7Z730;B7Z4A5;B7WNV6;Q6AHY1;Q6ICL3;Q6ICL3-2	.;.;.;.;.;CV025_HUMAN;.	S	33;33;33;33;33;33;33;74;33;74;38	ENSP00000385662:P33S;ENSP00000413850:P33S;ENSP00000389797:P33S;ENSP00000381122:P33S;ENSP00000415450:P33S;ENSP00000332721:P33S;ENSP00000402926:P33S;ENSP00000384827:P74S;ENSP00000411602:P33S;ENSP00000391262:P74S;ENSP00000403645:P38S	ENSP00000332721:P33S	P	+	1	0	C22orf25	18410918	1.000000	0.71417	0.061000	0.19648	0.149000	0.21700	4.652000	0.61454	1.197000	0.43143	-0.258000	0.10820	CCC		0.542	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318689.2	NM_152906		T	20030918	C	T	20030918	3	4	85	1	0	0	0	0	1	0	0	0	2141	507	18	2	103	2	C22orf25	22	20030918	Missense_Mutation	SNP	C	TCGA-A4-A5XZ-01A-11D-A31X-10		20030918	31273648	38	5707											
BCOR	54880	hgsc.bcm.edu	37	X	39932148	39932148	+	Silent	SNP	A	A	G			TCGA-A4-A5XZ-01A-11D-A31X-10	TCGA-A4-A5XZ-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	363096af-a78b-4834-a631-bebac9ce1659	9f1e35f9-8141-463b-a1b9-3fc7a83df607	g.chrX:39932148A>G	ENST00000378444.4	-	4	2679	c.2451T>C	c.(2449-2451)acT>acC	p.T817T	BCOR_ENST00000378455.4_Silent_p.T817T|BCOR_ENST00000342274.4_Silent_p.T817T|BCOR_ENST00000397354.3_Silent_p.T817T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	817					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGTTTGTGTCAGTTTTAGCAT	0.547			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													89	87	88					X																	39932148		2202	4300	6502	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2451T>C	chrX.hg19:g.39932148A>G			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	hg19	CCDS48093.1																																																																																				0.547	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		G	39932148	A	G	39932148	2	3	85	1	0	0	0	0	0	0	0	1	1386	175	7	3		3	BCOR	23	39932148	Silent	SNP	A	TCGA-A4-A5XZ-01A-11D-A31X-10		39932148	115338412	39	5708											
H6PD	9563	hgsc.bcm.edu	37	1	9305536	9305536	+	Silent	SNP	C	C	T	rs375431974		TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:9305536C>T	ENST00000377403.2	+	2	845	c.543C>T	c.(541-543)ttC>ttT	p.F181F	H6PD_ENST00000602477.1_Silent_p.F192F	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	181	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		ATGACCACTTCTCAGCCCAGC	0.587																																																0													47	52	50					1																	9305536		2203	4300	6503	SO:0001819	synonymous_variant	9563			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.543C>T	chr1.hg19:g.9305536C>T			Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	hg19	CCDS101.1																																																																																				0.587	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		T	9305536	C	T	9305536	2	4	86	1	0	0	0	0	0	0	0	1	6938	912	32	2		2	H6PD	1	9305536	Silent	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10		9305536	239945085	1	5709											
KANK4	163782	hgsc.bcm.edu	37	1	62740357	62740358	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:62740357_62740358delAA	ENST00000371153.4	-	3	796_797	c.418_419delTT	c.(418-420)ttgfs	p.L140fs	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	140						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGCAGCTTCCAACTGTCTGGTG	0.604																																																0																																										SO:0001589	frameshift_variant	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.418_419delTT	chr1.hg19:g.62740357_62740358delAA	ENSP00000360195:p.Leu140fs		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Frame_Shift_Del	DEL	ENST00000371153.4	hg19	CCDS620.1																																																																																				0.604	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		-	62740358	AA	-	62740357	7	5	86	1	0	1	0	1	0	0	0	0	7981	131	5	0	2600	0	KANK4	1	62740357	Frame_Shift_Del	DEL	AA	TCGA-A4-A5Y0-01A-11D-A31X-10	53434821	62740357	186510264	2	5710											
RABGGTB	5876	hgsc.bcm.edu	37	1	76253203	76253203	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:76253203A>G	ENST00000319942.3	+	2	96	c.25A>G	c.(25-27)Att>Gtt	p.I9V	SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000496055.1_3'UTR|SNORD45B_ENST00000364617.1_RNA|SNORD45C_ENST00000383893.1_RNA|RABGGTB_ENST00000370826.3_Missense_Mutation_p.I9V|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	9					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GAAGGATGTTATTATCAAGTC	0.368																																																0													147	134	139					1																	76253203		2203	4300	6503	SO:0001583	missense	5876			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.25A>G	chr1.hg19:g.76253203A>G	ENSP00000317473:p.Ile9Val		Q92697	Missense_Mutation	SNP	ENST00000319942.3	hg19	CCDS669.1	.	.	.	.	.	.	.	.	.	.	A	9.952	1.220540	0.22457	.	.	ENSG00000137955	ENST00000319942;ENST00000370824;ENST00000370826	.	.	.	5.05	0.547	0.17202	.	0.830524	0.11309	N	0.577349	T	0.07683	0.0193	N	0.05199	-0.095	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.39292	-0.9621	9	0.29301	T	0.29	-8.2035	10.2082	0.43126	0.5747:0.0:0.4253:0.0	.	9	P53611	PGTB2_HUMAN	V	9	.	ENSP00000317473:I9V	I	+	1	0	RABGGTB	76025791	0.001000	0.12720	0.210000	0.23637	0.847000	0.48162	0.335000	0.19806	0.044000	0.15775	0.533000	0.62120	ATT		0.368	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		G	76253203	A	G	76253203	3	3	86	1	0	0	0	0	1	0	0	0	12974	449	16	3	31	3	RABGGTB	1	76253203	Missense_Mutation	SNP	A	TCGA-A4-A5Y0-01A-11D-A31X-10	13512846	76253203	172997418	3	5711											
OVGP1	5016	hgsc.bcm.edu	37	1	111957940	111957940	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:111957940A>C	ENST00000369732.3	-	11	1238	c.1183T>G	c.(1183-1185)Ttt>Gtt	p.F395V	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	395					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GACAGCCAAAATTGTGGTAAA	0.433																																																0													48	46	47					1																	111957940		2203	4300	6503	SO:0001583	missense	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1183T>G	chr1.hg19:g.111957940A>C	ENSP00000358747:p.Phe395Val		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	hg19	CCDS834.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.791958	0.31685	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.03860	3.78	4.43	0.705	0.18127	.	0.784649	0.10922	N	0.619328	T	0.00875	0.0029	L	0.36672	1.1	0.09310	N	1	B;P	0.39831	0.105;0.69	B;B	0.29598	0.014;0.104	T	0.47623	-0.9103	10	0.22109	T	0.4	-2.4013	3.3373	0.07106	0.5411:0.0:0.0994:0.3595	.	395;459	Q12889;Q59HH5	OVGP1_HUMAN;.	V	395;459;203	ENSP00000358747:F395V	ENSP00000358743:F459V	F	-	1	0	OVGP1	111759463	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.154000	0.16343	0.097000	0.17492	0.477000	0.44152	TTT		0.433	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		C	111957940	A	C	111957940	3	2	86	1	0	0	0	0	1	0	0	0	11327	101	4	5	857	5	OVGP1	1	111957940	Missense_Mutation	SNP	A	TCGA-A4-A5Y0-01A-11D-A31X-10	35704737	111957940	137292681	4	5712											
CCT3	7203	hgsc.bcm.edu	37	1	156294858	156294858	+	Silent	SNP	A	A	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:156294858A>G	ENST00000295688.3	-	6	607	c.327T>C	c.(325-327)gcT>gcC	p.A109A	CCT3_ENST00000368261.3_Silent_p.A64A|CCT3_ENST00000472765.2_Silent_p.A64A|CCT3_ENST00000368259.2_Silent_p.A71A	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	109					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGAAGTGCTCAGCTACAGACA	0.413																																																0													92	84	87					1																	156294858		2203	4300	6503	SO:0001819	synonymous_variant	7203			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.327T>C	chr1.hg19:g.156294858A>G			A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	hg19	CCDS1140.2																																																																																				0.413	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		G	156294858	A	G	156294858	2	3	86	1	0	0	0	0	0	0	0	1	2956	175	7	3		3	CCT3	1	156294858	Silent	SNP	A	TCGA-A4-A5Y0-01A-11D-A31X-10	44336918	156294858	92955763	5	5713											
HHIPL2	79802	hgsc.bcm.edu	37	1	222705394	222705394	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:222705394C>T	ENST00000343410.6	-	6	1695	c.1637G>A	c.(1636-1638)tGc>tAc	p.C546Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	546					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCTGCCCAGGCAAAGATCCTG	0.428																																																0													87	87	87					1																	222705394		2203	4300	6503	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1637G>A	chr1.hg19:g.222705394C>T	ENSP00000342118:p.Cys546Tyr		Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	hg19	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343683	0.82022	.	.	ENSG00000143512	ENST00000343410	T	0.13307	2.6	5.0	5.0	0.66597	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58532	-0.7620	10	0.51188	T	0.08	-17.4954	17.9254	0.88982	0.0:1.0:0.0:0.0	.	546	Q6UWX4	HIPL2_HUMAN	Y	546	ENSP00000342118:C546Y	ENSP00000342118:C546Y	C	-	2	0	HHIPL2	220772017	1.000000	0.71417	0.980000	0.43619	0.936000	0.57629	5.693000	0.68264	2.304000	0.77564	0.591000	0.81541	TGC		0.428	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		T	222705394	C	T	222705394	3	4	86	1	0	0	0	0	1	0	0	0	7096	710	25	2	553	2	HHIPL2	1	222705394	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10	66410536	222705394	26545227	6	5714											
C1orf95	375057	hgsc.bcm.edu	37	1	226784625	226784625	+	Missense_Mutation	SNP	G	G	A	rs531129279		TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr1:226784625G>A	ENST00000366788.3	+	2	430	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	C1orf95_ENST00000366789.4_Missense_Mutation_p.V109I	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	109						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CACTGCCATCGTCATGGTGGG	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22256	0.0		0.0	False		,,,				2504	0.0															0													167	143	151					1																	226784625		2203	4300	6503	SO:0001583	missense	375057			AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.325G>A	chr1.hg19:g.226784625G>A	ENSP00000355752:p.Val109Ile		A6NGL2	Missense_Mutation	SNP	ENST00000366788.3	hg19	CCDS31044.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469818	0.43839	.	.	ENSG00000203685	ENST00000366788;ENST00000366789	.	.	.	5.82	5.82	0.92795	.	0.154593	0.43919	D	0.000509	T	0.34658	0.0905	N	0.03324	-0.35	0.38912	D	0.957563	B	0.24368	0.102	B	0.17979	0.02	T	0.34825	-0.9813	9	0.08599	T	0.76	1.3905	19.6956	0.96023	0.0:0.0:1.0:0.0	.	109	Q69YW2	CA095_HUMAN	I	109	.	ENSP00000355752:V109I	V	+	1	0	C1orf95	224851248	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.144000	0.71762	2.756000	0.94617	0.561000	0.74099	GTC		0.612	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665		A	226784625	G	A	226784625	3	1	86	1	0	0	0	0	1	0	0	0	2074	1145	40	1	331	1	C1orf95	1	226784625	Missense_Mutation	SNP	G	TCGA-A4-A5Y0-01A-11D-A31X-10	4079231	226784625	22465996	7	5715											
ZNF804A	91752	hgsc.bcm.edu	37	2	185802210	185802211	+	Missense_Mutation	DNP	AC	AC	CA	rs5836928|rs3046266	byFrequency	TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:185802210_185802211AC>CA	ENST00000302277.6	+	4	2681_2682	c.2087_2088AC>CA	c.(2086-2088)aAC>aCA	p.N696T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	696							metal ion binding (GO:0046872)	p.N696K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTAAAAAGAACACAATACTTT	0.292																																																1	Substitution - Missense(1)	ovary(1)																																								SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	Exception_encountered	chr2.hg19:g.185802210_185802211delinsCA	ENSP00000303252:p.Asn696Thr		A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	hg19	CCDS2291.1																																																																																				0.292	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		CA	185802211	AC	CA	185802210	3	2	86	1	0	0	0	0	1	0	0	0	18175	43	2	5	2101	5	ZNF804A	2	185802210	Missense_Mutation	DNP	AC	TCGA-A4-A5Y0-01A-11D-A31X-10		185802210	57397163	8	5716	57	2									
ZNF804A	91752	hgsc.bcm.edu	37	2	185802216	185802216	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:185802216T>C	ENST00000302277.6	+	4	2687	c.2093T>C	c.(2092-2094)aTa>aCa	p.I698T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	698							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGAACACAATACTTTTAAAT	0.294																																																0													73	67	69					2																	185802216		2194	4291	6485	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2093T>C	chr2.hg19:g.185802216T>C	ENSP00000303252:p.Ile698Thr		A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	hg19	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	3.795	-0.042847	0.07452	.	.	ENSG00000170396	ENST00000302277	T	0.05258	3.47	5.63	0.374	0.16183	.	1.826620	0.02817	N	0.125135	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40776	-0.9545	10	0.27082	T	0.32	-0.3078	8.4113	0.32644	0.0:0.5963:0.0:0.4037	.	698	Q7Z570	Z804A_HUMAN	T	698	ENSP00000303252:I698T	ENSP00000303252:I698T	I	+	2	0	ZNF804A	185510461	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.483000	0.22292	0.077000	0.16863	0.533000	0.62120	ATA		0.294	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		C	185802216	T	C	185802216	3	2	86	1	0	0	0	0	1	0	0	0	18175	1406	49	3	2107	3	ZNF804A	2	185802216	Missense_Mutation	SNP	T	TCGA-A4-A5Y0-01A-11D-A31X-10	6	185802216	57397157	9	5717	57	2									
CUL3	8452	hgsc.bcm.edu	37	2	225362540	225362540	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr2:225362540C>G	ENST00000264414.4	-	12	1975	c.1637G>C	c.(1636-1638)cGa>cCa	p.R546P	CUL3_ENST00000344951.4_Missense_Mutation_p.R480P|CUL3_ENST00000409777.1_Missense_Mutation_p.R522P|CUL3_ENST00000409096.1_Missense_Mutation_p.R522P	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	546					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGTGAGCTGTCGACCACTGTG	0.353																																																0													150	140	143					2																	225362540		2203	4300	6503	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1637G>C	chr2.hg19:g.225362540C>G	ENSP00000264414:p.Arg546Pro		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	hg19	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	34	5.352209	0.95830	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	6.16	6.16	0.99307	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.96719	0.8929	H	0.98276	4.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97283	0.9919	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	480;524;546	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	P	546;480;522;522	ENSP00000264414:R546P;ENSP00000343601:R480P;ENSP00000387200:R522P;ENSP00000386525:R522P	ENSP00000264414:R546P	R	-	2	0	CUL3	225070784	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.802000	0.85969	2.937000	0.99478	0.650000	0.86243	CGA		0.353	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			G	225362540	C	G	225362540	3	3	86	1	0	0	0	0	1	0	0	0	4058	884	31	4	689	4	CUL3	2	225362540	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10	39560324	225362540	17836833	10	5718											
ULK4	54986	hgsc.bcm.edu	37	3	41795965	41795965	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:41795965delT	ENST00000301831.4	-	22	2671	c.2209delA	c.(2209-2211)attfs	p.I738fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	738					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAACGGATAATTGTGGAGACA	0.358																																																0													82	79	80					3																	41795965		1820	4081	5901	SO:0001589	frameshift_variant	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2209delA	chr3.hg19:g.41795965delT	ENSP00000301831:p.Ile738fs		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Del	DEL	ENST00000301831.4	hg19	CCDS43071.1																																																																																				0.358	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		-	41795965	T	-	41795965	7	5	86	1	0	1	0	1	0	0	0	0	16983	1493	52	0	1682	0	ULK4	3	41795965	Frame_Shift_Del	DEL	T	TCGA-A4-A5Y0-01A-11D-A31X-10		41795965	156226465	11	5719											
CISH	1154	hgsc.bcm.edu	37	3	50645901	50645901	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:50645901C>A	ENST00000348721.3	-	2	324	c.144G>T	c.(142-144)gaG>gaT	p.E48D	CISH_ENST00000443053.2_Missense_Mutation_p.E65D	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	48					intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTGGGGTACCCTCTGCCACCT	0.642																																																0													54	49	51					3																	50645901		2203	4300	6503	SO:0001583	missense	1154			Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"Suppressors of cytokine signaling", "SH2 domain containing"	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.144G>T	chr3.hg19:g.50645901C>A	ENSP00000294173:p.Glu48Asp		B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Missense_Mutation	SNP	ENST00000348721.3	hg19	CCDS2831.1	.	.	.	.	.	.	.	.	.	.	C	7.873	0.728634	0.15507	.	.	ENSG00000114737	ENST00000443053;ENST00000348721	T;T	0.47177	0.85;0.87	6.03	2.26	0.28386	.	0.367420	0.28209	N	0.016181	T	0.35885	0.0947	L	0.57536	1.79	0.28436	N	0.917019	B;B	0.28082	0.2;0.048	B;B	0.23574	0.047;0.012	T	0.21690	-1.0238	10	0.14656	T	0.56	-8.0475	6.8677	0.24102	0.0:0.587:0.119:0.294	.	65;48	G5E9R1;Q9NSE2	.;CISH_HUMAN	D	65;48	ENSP00000409346:E65D;ENSP00000294173:E48D	ENSP00000294173:E48D	E	-	3	2	CISH	50620905	0.991000	0.36638	1.000000	0.80357	0.071000	0.16799	0.437000	0.21543	0.441000	0.26529	-0.150000	0.13652	GAG		0.642	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346245.1	NM_145071		A	50645901	C	A	50645901	3	1	86	1	0	0	0	0	1	0	0	0	3439	680	24	4	640	4	CISH	3	50645901	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10	8849936	50645901	147376529	12	5720											
DNAH1	25981	hgsc.bcm.edu	37	3	52380547	52380547	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:52380547C>A	ENST00000420323.2	+	11	1977	c.1716C>A	c.(1714-1716)agC>agA	p.S572R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	572	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCGCAGCAGCCTGCGCGACA	0.572																																																0													55	57	56					3																	52380547		2141	4243	6384	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1716C>A	chr3.hg19:g.52380547C>A	ENSP00000401514:p.Ser572Arg		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127059	0.56721	.	.	ENSG00000114841	ENST00000420323	T	0.24350	1.86	4.53	4.53	0.55603	.	0.443881	0.19011	N	0.125064	T	0.34513	0.0900	M	0.72894	2.215	0.39055	D	0.960409	P;P	0.45957	0.713;0.869	B;P	0.47981	0.434;0.563	T	0.15263	-1.0443	10	0.23302	T	0.38	.	11.8369	0.52330	0.0:0.9149:0.0:0.0851	.	572;572	C9JXH6;Q9P2D7-3	.;.	R	572	ENSP00000401514:S572R	ENSP00000401514:S572R	S	+	3	2	DNAH1	52355587	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.033000	0.41136	2.085000	0.62840	0.563000	0.77884	AGC		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52380547	C	A	52380547	3	1	86	1	0	0	0	0	1	0	0	0	4599	738	26	4	1754	4	DNAH1	3	52380547	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10	1734646	52380547	145641883	13	5721											
IL17RB	55540	hgsc.bcm.edu	37	3	53886139	53886147	+	In_Frame_Del	DEL	CCCTCTGGT	CCCTCTGGT	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	CCCTCTGGT	CCCTCTGGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:53886139_53886147delCCCTCTGGT	ENST00000288167.3	+	4	349_357	c.340_348delCCCTCTGGT	c.(340-348)ccctctggtdel	p.PSG114del		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	114					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TCAGACCAGACCCTCTGGTGGTAAAGTAA	0.478																																																0																																										SO:0001651	inframe_deletion	55540			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"Interleukins and interleukin receptors"	18015	protein-coding gene	gene with protein product		605458	"interleukin 17B receptor"	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.340_348delCCCTCTGGT	chr3.hg19:g.53886139_53886147delCCCTCTGGT	ENSP00000288167:p.Pro114_Gly116del		Q9BPZ0|Q9NRL4|Q9NRM5	In_Frame_Del	DEL	ENST00000288167.3	hg19	CCDS2874.1																																																																																				0.478	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		-	53886147	CCCTCTGGT	-	53886139	7	5	86	1	0	1	0	1	0	0	0	0	7642	507	18	0	354	0	IL17RB	3	53886139	In_Frame_Del	DEL	CCCTCTGGT	TCGA-A4-A5Y0-01A-11D-A31X-10	1505592	53886139	144136291	14	5722											
A4GNT	51146	hgsc.bcm.edu	37	3	137849689	137849689	+	Splice_Site	SNP	A	A	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:137849689A>C	ENST00000236709.3	-	2	610		c.e2+1			NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase						carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CTAAACACTTACTTGATTGTA	0.403																																																0													65	65	65					3																	137849689		2202	4300	6502	SO:0001630	splice_region_variant	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.408+1T>G	chr3.hg19:g.137849689A>C			Q0VDK1|Q0VDK2	Splice_Site	SNP	ENST00000236709.3	hg19	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279090	0.40294	.	.	ENSG00000118017	ENST00000236709	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4479	0.75248	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	A4GNT	139332379	1.000000	0.71417	0.995000	0.50966	0.387000	0.30353	6.414000	0.73318	2.046000	0.60703	0.454000	0.30748	.		0.403	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161	Intron	C	137849689	A	C	137849689	5	2	86	1	0	0	0	0	0	0	1	0	7	405	14	5	620	5	A4GNT	3	137849689	Splice_Site	SNP	A	TCGA-A4-A5Y0-01A-11D-A31X-10	83963550	137849689	60172741	15	5723											
PRKCI	5584	hgsc.bcm.edu	37	3	170020905	170020905	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr3:170020905delA	ENST00000295797.4	+	18	2086	c.1781delA	c.(1780-1782)gaafs	p.E594fs		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	594	AGC-kinase C-terminal.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TCTGCAGAAGAATGTGTCTGA	0.333																																																0													154	140	145					3																	170020905		2203	4300	6503	SO:0001589	frameshift_variant	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1781delA	chr3.hg19:g.170020905delA	ENSP00000295797:p.Glu594fs		D3DNQ4|Q8WW06	Frame_Shift_Del	DEL	ENST00000295797.4	hg19	CCDS3212.2																																																																																				0.333	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		-	170020905	A	-	170020905	7	5	86	1	0	1	0	1	0	0	0	0	12519	246	9	0	1851	0	PRKCI	3	170020905	Frame_Shift_Del	DEL	A	TCGA-A4-A5Y0-01A-11D-A31X-10	32171216	170020905	28001525	16	5724											
WDFY3	23001	hgsc.bcm.edu	37	4	85722839	85722839	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr4:85722839C>A	ENST00000295888.4	-	17	3193	c.2786G>T	c.(2785-2787)cGa>cTa	p.R929L	WDFY3_ENST00000322366.6_Missense_Mutation_p.R929L|WDFY3_ENST00000512267.1_5'Flank|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	929					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAGGCTAATCGTTCAAACAT	0.493																																																0													109	112	111					4																	85722839		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2786G>T	chr4.hg19:g.85722839C>A	ENSP00000295888:p.Arg929Leu		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890055	0.91889	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.57107	0.42;0.42	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.72475	-0.4282	10	0.54805	T	0.06	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	929	Q8IZQ1	WDFY3_HUMAN	L	929	ENSP00000318466:R929L;ENSP00000295888:R929L	ENSP00000295888:R929L	R	-	2	0	WDFY3	85941863	1.000000	0.71417	0.883000	0.34634	0.737000	0.42083	7.487000	0.81328	2.827000	0.97445	0.650000	0.86243	CGA		0.493	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		A	85722839	C	A	85722839	3	1	86	1	0	0	0	0	1	0	0	0	17275	884	31	4	8002	4	WDFY3	4	85722839	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10		85722839	105431437	17	5725											
ADAMTS12	81792	hgsc.bcm.edu	37	5	33534943	33534943	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr5:33534943C>A	ENST00000504830.1	-	23	4936	c.4601G>T	c.(4600-4602)aGt>aTt	p.S1534I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1449I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1534					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCACCGGCACTTTTCTTGCA	0.433										HNSCC(64;0.19)																																						0													130	124	126					5																	33534943		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4601G>T	chr5.hg19:g.33534943C>A	ENSP00000422554:p.Ser1534Ile		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	hg19	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963656	0.34659	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60548	0.19;0.18	4.98	0.386	0.16254	.	0.588898	0.19280	N	0.118200	T	0.43366	0.1244	L	0.52364	1.645	0.53005	D	0.999961	P;B	0.36837	0.571;0.435	B;B	0.36989	0.238;0.12	T	0.14392	-1.0474	10	0.30854	T	0.27	.	3.6087	0.08052	0.0:0.3846:0.2143:0.401	.	1449;1534	P58397-3;P58397	.;ATS12_HUMAN	I	1534;1449	ENSP00000422554:S1534I;ENSP00000344847:S1449I	ENSP00000344847:S1449I	S	-	2	0	ADAMTS12	33570700	0.000000	0.05858	0.922000	0.36590	0.973000	0.67179	0.033000	0.13754	0.202000	0.20498	0.563000	0.77884	AGT		0.433	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		A	33534943	C	A	33534943	3	1	86	1	0	0	0	0	1	0	0	0	257	565	20	4	191	4	ADAMTS12	5	33534943	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10		33534943	147380317	18	5726											
PCDHB14	56122	hgsc.bcm.edu	37	5	140605127	140605127	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr5:140605127G>A	ENST00000239449.4	+	1	2050	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.D531N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	684					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCAGGCCGACTCCCTCAC	0.701																																					Ovarian(141;50 1831 27899 33809 37648)											0													69	77	74					5																	140605127		2187	4284	6471	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2050G>A	chr5.hg19:g.140605127G>A	ENSP00000239449:p.Asp684Asn		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	hg19	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	11.91	1.778390	0.31502	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.52983	0.65;0.64	4.17	4.17	0.49024	.	.	.	.	.	T	0.47135	0.1429	M	0.83483	2.645	0.09310	N	1	P	0.35575	0.51	B	0.30572	0.117	T	0.52540	-0.8562	9	0.59425	D	0.04	.	6.9347	0.24461	0.0935:0.0:0.7321:0.1744	.	684	Q9Y5E9	PCDBE_HUMAN	N	531;684	ENSP00000444518:D531N;ENSP00000239449:D684N	ENSP00000239449:D684N	D	+	1	0	PCDHB14	140585311	0.747000	0.28283	0.039000	0.18376	0.064000	0.16182	2.451000	0.44952	2.022000	0.59522	0.650000	0.86243	GAC		0.701	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		A	140605127	G	A	140605127	3	1	86	1	0	0	0	0	1	0	0	0	11541	1058	37	1	2052	1	PCDHB14	5	140605127	Missense_Mutation	SNP	G	TCGA-A4-A5Y0-01A-11D-A31X-10	107070184	140605127	40310133	19	5727											
CD83	9308	hgsc.bcm.edu	37	6	14133946	14133946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr6:14133946delC	ENST00000379153.3	+	4	620	c.449delC	c.(448-450)gctfs	p.A150fs		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	150					defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				CTGCTGCTGGCTCTGGTTATT	0.383																																																0													132	132	132					6																	14133946		2203	4300	6503	SO:0001589	frameshift_variant	9308			Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1703	protein-coding gene	gene with protein product		604534	"CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)", "CD83 molecule "			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.449delC	chr6.hg19:g.14133946delC	ENSP00000368450:p.Ala150fs		Q5THX9	Frame_Shift_Del	DEL	ENST00000379153.3	hg19	CCDS4532.1																																																																																				0.383	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			-	14133946	C	-	14133946	7	5	86	1	0	1	0	1	0	0	0	0	3043	797	28	0	463	0	CD83	6	14133946	Frame_Shift_Del	DEL	C	TCGA-A4-A5Y0-01A-11D-A31X-10		14133946	156981121	20	5728											
E2F3	1871	hgsc.bcm.edu	37	6	20490451	20490451	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr6:20490451C>G	ENST00000346618.3	+	7	1254	c.1188C>G	c.(1186-1188)aaC>aaG	p.N396K	E2F3_ENST00000535432.1_Missense_Mutation_p.N265K	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	396	Transactivation. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTATGGGAAACCTTTCTCCTC	0.443																																																0													72	71	71					6																	20490451		2203	4300	6503	SO:0001583	missense	1871			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1188C>G	chr6.hg19:g.20490451C>G	ENSP00000262904:p.Asn396Lys		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	hg19	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.205397	0.01568	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	T;T	0.06294	3.32;3.35	5.49	2.71	0.32032	.	0.637186	0.17731	N	0.163882	T	0.00637	0.0021	N	0.08118	0	0.20489	N	0.999892	B	0.15473	0.013	B	0.11329	0.006	T	0.46190	-0.9209	10	0.06236	T	0.91	.	3.2605	0.06846	0.2493:0.5042:0.1104:0.1361	.	396	O00716	E2F3_HUMAN	K	396;265	ENSP00000262904:N396K;ENSP00000443418:N265K	ENSP00000262904:N396K	N	+	3	2	E2F3	20598430	0.274000	0.24191	0.948000	0.38648	0.975000	0.68041	0.955000	0.29188	0.355000	0.24131	-0.224000	0.12420	AAC		0.443	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			G	20490451	C	G	20490451	3	3	86	1	0	0	0	0	1	0	0	0	4870	506	18	4	1214	4	E2F3	6	20490451	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10	6356505	20490451	150624616	21	5729											
HLA-A	3105	hgsc.bcm.edu	37	6	29910554	29910554	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr6:29910554T>G	ENST00000396634.1	+	4	435	c.94T>G	c.(94-96)Ttc>Gtc	p.F32V	HLA-A_ENST00000376809.5_Missense_Mutation_p.F32V|HLA-A_ENST00000376806.5_Missense_Mutation_p.F32V|HLA-A_ENST00000376802.2_Missense_Mutation_p.F32V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	32	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATGAGGTATTTCTTCACATC	0.726									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																						0													15	15	15					6																	29910554		2179	4265	6444	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.94T>G	chr6.hg19:g.29910554T>G	ENSP00000379873:p.Phe32Val		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	hg19	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	10.84	1.463317	0.26248	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00932	5.53;5.53;5.53;5.53	3.72	2.53	0.30540	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	0.000000	0.35349	U	0.003271	T	0.03178	0.0093	H	0.96142	3.775	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.998;0.999	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.998;0.999	T	0.29971	-0.9994	10	0.87932	D	0	.	5.839	0.18623	0.0:0.1258:0.0:0.8742	.	32;32;32;32;32	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	V	32	ENSP00000379873:F32V;ENSP00000366002:F32V;ENSP00000366005:F32V;ENSP00000365998:F32V	ENSP00000348012:F32V	F	+	1	0	HLA-A	30018533	0.004000	0.15560	0.034000	0.17996	0.201000	0.24016	0.452000	0.21795	0.620000	0.30215	0.391000	0.25812	TTC		0.726	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		G	29910554	T	G	29910554	3	3	86	1	0	0	0	0	1	0	0	0	7197	1841	64	5	100	5	HLA-A	6	29910554	Missense_Mutation	SNP	T	TCGA-A4-A5Y0-01A-11D-A31X-10	9420103	29910554	141204513	22	5730											
BRD2	6046	hgsc.bcm.edu	37	6	32944714	32944714	+	Splice_Site	SNP	G	G	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr6:32944714G>A	ENST00000374825.4	+	7	2901		c.e7+1		BRD2_ENST00000443797.2_Splice_Site|BRD2_ENST00000395287.1_Splice_Site|BRD2_ENST00000374831.4_Splice_Site|BRD2_ENST00000449085.2_Splice_Site|BRD2_ENST00000395289.2_Splice_Site	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2						chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.?(1)		central_nervous_system(3)|stomach(2)	5						CACTGTCAAGGTACCCACTGC	0.507																																																1	Unknown(1)	upper_aerodigestive_tract(1)											60	64	63					6																	32944714		1472	2670	4142	SO:0001630	splice_region_variant	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1200+1G>A	chr6.hg19:g.32944714G>A			A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Splice_Site	SNP	ENST00000374825.4	hg19	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493736	0.64186	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449025;ENST00000449085	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8266	0.78711	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BRD2	33052692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.592000	0.98245	2.679000	0.91253	0.637000	0.83480	.		0.507	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2		Intron	A	32944714	G	A	32944714	5	1	86	1	0	0	0	0	0	0	1	0	1504	1275	44	2	1223	2	BRD2	6	32944714	Splice_Site	SNP	G	TCGA-A4-A5Y0-01A-11D-A31X-10	3034160	32944714	138170353	23	5731											
ASCC3	10973	hgsc.bcm.edu	37	6	101075824	101075824	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr6:101075824C>A	ENST00000369162.2	-	28	4759	c.4415G>T	c.(4414-4416)cGa>cTa	p.R1472L		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1472	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAATTTGTTCGAGATACAAT	0.393																																																0													108	105	106					6																	101075824		2203	4300	6503	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4415G>T	chr6.hg19:g.101075824C>A	ENSP00000358159:p.Arg1472Leu		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	hg19	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124487	0.94429	.	.	ENSG00000112249	ENST00000369162	T	0.14640	2.49	6.17	6.17	0.99709	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68383	-0.5423	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1472	Q8N3C0	HELC1_HUMAN	L	1472	ENSP00000358159:R1472L	ENSP00000358159:R1472L	R	-	2	0	ASCC3	101182545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGA		0.393	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		A	101075824	C	A	101075824	3	1	86	1	0	0	0	0	1	0	0	0	1033	884	31	4	2253	4	ASCC3	6	101075824	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10	68131110	101075824	70039243	24	5732											
NRCAM	4897	hgsc.bcm.edu	37	7	107807453	107807453	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr7:107807453T>C	ENST00000425651.2	-	27	3378	c.3379A>G	c.(3379-3381)Atg>Gtg	p.M1127V	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.M1127V|NRCAM_ENST00000379028.3_Missense_Mutation_p.M1127V	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1127	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTTCCTGGCATTAGACCCTTT	0.433																																																0													76	81	79					7																	107807453		1972	4151	6123	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3379A>G	chr7.hg19:g.107807453T>C	ENSP00000401244:p.Met1127Val		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	hg19	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	9.859	1.195856	0.22037	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000425651;ENST00000379022	T;T;T	0.55760	0.5;0.5;0.5	5.67	3.17	0.36434	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.360043	0.35838	N	0.002958	T	0.29945	0.0749	N	0.14661	0.345	0.27571	N	0.949892	B	0.02656	0.0	B	0.01281	0.0	T	0.14531	-1.0469	10	0.14656	T	0.56	.	8.9597	0.35840	0.0:0.0674:0.126:0.8066	.	1127	Q92823	NRCAM_HUMAN	V	1127	ENSP00000368314:M1127V;ENSP00000401244:M1127V;ENSP00000368308:M1127V	ENSP00000368308:M1127V	M	-	1	0	NRCAM	107594689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.529000	0.60588	1.086000	0.41228	0.523000	0.50628	ATG		0.433	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		C	107807453	T	C	107807453	3	2	86	1	0	0	0	0	1	0	0	0	10646	1493	52	3	581	3	NRCAM	7	107807453	Missense_Mutation	SNP	T	TCGA-A4-A5Y0-01A-11D-A31X-10		107807453	51331210	25	5733											
OR6V1	346517	hgsc.bcm.edu	37	7	142750247	142750247	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr7:142750247G>C	ENST00000418316.1	+	1	831	c.810G>C	c.(808-810)aaG>aaC	p.K270N		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					AAGTCAGGAAGGTCGTGGCCT	0.507																																																0													104	112	110					7																	142750247		2053	4182	6235	SO:0001583	missense	346517				CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.810G>C	chr7.hg19:g.142750247G>C	ENSP00000396085:p.Lys270Asn		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	hg19	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109344	0.37242	.	.	ENSG00000225781	ENST00000418316	T	0.00207	8.55	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00666	0.0022	M	0.85041	2.73	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.48103	-0.9064	9	0.87932	D	0	.	14.772	0.69688	0.0:0.0:1.0:0.0	.	270	Q8N148	OR6V1_HUMAN	N	270	ENSP00000396085:K270N	ENSP00000396085:K270N	K	+	3	2	OR6V1	142460369	0.000000	0.05858	0.506000	0.27664	0.262000	0.26303	0.085000	0.14912	2.349000	0.79799	0.655000	0.94253	AAG		0.507	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			C	142750247	G	C	142750247	3	2	86	1	0	0	0	0	1	0	0	0	11213	991	35	4	812	4	OR6V1	7	142750247	Missense_Mutation	SNP	G	TCGA-A4-A5Y0-01A-11D-A31X-10	34942794	142750247	16388416	26	5734											
SNAI2	6591	hgsc.bcm.edu	37	8	49833817	49833817	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr8:49833817C>G	ENST00000396822.1	-	2	365	c.8G>C	c.(7-9)cGc>cCc	p.R3P	SNAI2_ENST00000020945.1_Missense_Mutation_p.R3P			O43623	SNAI2_HUMAN	snail family zinc finger 2	3	SNAG domain. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAGGAAGGAGCGCGGCATCTT	0.587																																																0													107	108	107					8																	49833817		2203	4300	6503	SO:0001583	missense	6591			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.8G>C	chr8.hg19:g.49833817C>G	ENSP00000380034:p.Arg3Pro		B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	hg19	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143242	0.94560	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.19938	2.11;2.11	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58808	-0.7571	9	.	.	.	-21.1684	18.5472	0.91052	0.0:1.0:0.0:0.0	.	3	O43623	SNAI2_HUMAN	P	3	ENSP00000020945:R3P;ENSP00000380034:R3P	.	R	-	2	0	SNAI2	49996370	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.380000	0.79704	2.377000	0.81083	0.313000	0.20887	CGC		0.587	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		G	49833817	C	G	49833817	3	3	86	1	0	0	0	0	1	0	0	0	14833	768	27	4	810	4	SNAI2	8	49833817	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10		49833817	96530205	27	5735											
MTSS1	9788	hgsc.bcm.edu	37	8	125570101	125570101	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr8:125570101delA	ENST00000518547.1	-	11	1524	c.1051delT	c.(1051-1053)tctfs	p.S351fs	MTSS1_ENST00000378017.3_Intron|MTSS1_ENST00000325064.5_Frame_Shift_Del_p.S355fs|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000431961.2_Intron|MTSS1_ENST00000354184.4_Intron|MTSS1_ENST00000395508.2_Frame_Shift_Del_p.S125fs|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_Frame_Shift_Del_p.S241fs	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	351	Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTATAGTGAGAAAACCCGTTA	0.498																																					Esophageal Squamous(160;622 1893 3862 8546 12509)											0													22	23	23					8																	125570101		2196	4297	6493	SO:0001589	frameshift_variant	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1051delT	chr8.hg19:g.125570101delA	ENSP00000429064:p.Ser351fs		J3KNK6|Q8TCA2|Q96RX2	Frame_Shift_Del	DEL	ENST00000518547.1	hg19	CCDS6353.1																																																																																				0.498	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		-	125570101	A	-	125570101	7	5	86	1	0	1	0	1	0	0	0	0	9964	246	9	0	1232	0	MTSS1	8	125570101	Frame_Shift_Del	DEL	A	TCGA-A4-A5Y0-01A-11D-A31X-10	75736284	125570101	20793921	28	5736											
RFX3	5991	hgsc.bcm.edu	37	9	3301560	3301560	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr9:3301560G>A	ENST00000382004.3	-	6	846	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F	RFX3_ENST00000302303.1_Missense_Mutation_p.L179F|RFX3_ENST00000358730.2_Missense_Mutation_p.L179F	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	179					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTGTTGAGAAGAGAGCTTCTG	0.398																																																0													157	135	143					9																	3301560		2203	4300	6503	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.535C>T	chr9.hg19:g.3301560G>A	ENSP00000371434:p.Leu179Phe		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	hg19	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832324	0.91036	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000451859	D;D;D;T	0.83075	-1.68;-1.68;-1.68;0.27	5.87	5.87	0.94306	.	0.137392	0.50627	D	0.000106	T	0.75110	0.3805	N	0.02011	-0.69	0.58432	D	0.999994	D;B;D	0.58620	0.983;0.037;0.965	P;B;P	0.55345	0.731;0.037;0.774	T	0.82536	-0.0408	10	0.56958	D	0.05	-9.8293	16.4906	0.84200	0.0:0.0:0.8686:0.1314	.	179;179;179	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	F	179	ENSP00000371434:L179F;ENSP00000351574:L179F;ENSP00000303847:L179F;ENSP00000411756:L179F	ENSP00000303847:L179F	L	-	1	0	RFX3	3291560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.781000	0.95711	0.655000	0.94253	CTT		0.398	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		A	3301560	G	A	3301560	3	1	86	1	0	0	0	0	1	0	0	0	13270	942	33	2	1922	2	RFX3	9	3301560	Missense_Mutation	SNP	G	TCGA-A4-A5Y0-01A-11D-A31X-10		3301560	137911871	29	5737											
EXOSC2	23404	hgsc.bcm.edu	37	9	133579154	133579154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr9:133579154delA	ENST00000372358.5	+	9	946	c.875delA	c.(874-876)gagfs	p.E292fs	EXOSC2_ENST00000546165.1_Frame_Shift_Del_p.E266fs|EXOSC2_ENST00000372351.3_Frame_Shift_Del_p.E262fs|EXOSC2_ENST00000372352.3_Frame_Shift_Del_p.E284fs|EXOSC2_ENST00000467138.1_3'UTR			Q13868	EXOS2_HUMAN	exosome component 2	292					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		TTGGAACAGGAGGGATAAGGA	0.478																																					Pancreas(134;1683 1824 10118 27928 31640)											0													118	127	124					9																	133579154		2203	4300	6503	SO:0001589	frameshift_variant	23404			AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.875delA	chr9.hg19:g.133579154delA	ENSP00000361433:p.Glu292fs		A3KFL3|B4DKK6|Q9NUY4	Frame_Shift_Del	DEL	ENST00000372358.5	hg19	CCDS6935.1																																																																																				0.478	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054673.1	NM_014285		-	133579154	A	-	133579154	7	5	86	1	0	1	0	1	0	0	0	0	5317	304	11	0	909	0	EXOSC2	9	133579154	Frame_Shift_Del	DEL	A	TCGA-A4-A5Y0-01A-11D-A31X-10	130277594	133579154	7634277	30	5738											
MUC5B	727897	hgsc.bcm.edu	37	11	1276776	1276776	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr11:1276776G>T	ENST00000529681.1	+	37	16112	c.16054G>T	c.(16054-16056)Ggt>Tgt	p.G5352C	MUC5B_ENST00000447027.1_Missense_Mutation_p.G5355C	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5352					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGTGCAACCGGTGGCCTGTG	0.746																																																0													6	7	7					11																	1276776		1853	3899	5752	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16054G>T	chr11.hg19:g.1276776G>T	ENSP00000436812:p.Gly5352Cys		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	7.246	0.602241	0.13939	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.17054	2.3;2.47	4.01	-2.42	0.06542	.	.	.	.	.	T	0.34513	0.0900	M	0.79475	2.455	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	T	0.16012	-1.0417	9	0.87932	D	0	.	5.244	0.15487	0.4649:0.181:0.3541:0.0	.	5689;5355	A7Y9J9;E9PBJ0	.;.	C	5352;5355;5296;251;5064	ENSP00000436812:G5352C;ENSP00000415793:G5355C	ENSP00000343037:G5296C	G	+	1	0	MUC5B	1233352	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-3.094000	0.00607	-0.833000	0.04245	0.448000	0.29417	GGT		0.746	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		T	1276776	G	T	1276776	3	4	86	1	0	0	0	0	1	0	0	0	9981	1116	39	4	16209	4	MUC5B	11	1276776	Missense_Mutation	SNP	G	TCGA-A4-A5Y0-01A-11D-A31X-10		1276776	133729740	31	5739											
SF3B2	10992	hgsc.bcm.edu	37	11	65826742	65826742	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr11:65826742C>T	ENST00000322535.6	+	11	1302	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	SF3B2_ENST00000528302.1_Missense_Mutation_p.A401V	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	418					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AACTCTGCAGCCCCCAAGAAG	0.532																																																0													62	55	58					11																	65826742		2201	4295	6496	SO:0001583	missense	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1253C>T	chr11.hg19:g.65826742C>T	ENSP00000318861:p.Ala418Val		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	hg19	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315405	0.23908	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.06	-0.939	0.10408	.	0.379232	0.29073	N	0.013223	T	0.23289	0.0563	L	0.27053	0.805	0.19575	N	0.999966	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	9	0.18276	T	0.48	0.0053	8.4596	0.32921	0.0:0.4852:0.0:0.5148	.	418	Q13435	SF3B2_HUMAN	V	401;418;322	.	ENSP00000318861:A418V	A	+	2	0	SF3B2	65583318	0.339000	0.24784	0.028000	0.17463	0.984000	0.73092	0.269000	0.18589	-0.516000	0.06470	0.555000	0.69702	GCC		0.532	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			T	65826742	C	T	65826742	3	4	86	1	0	0	0	0	1	0	0	0	14157	739	26	2	1295	2	SF3B2	11	65826742	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10	64549966	65826742	69179774	32	5740											
TMTC2	160335	hgsc.bcm.edu	37	12	83251132	83251132	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr12:83251132G>T	ENST00000321196.3	+	2	1134	c.427G>T	c.(427-429)Ggg>Tgg	p.G143W	TMTC2_ENST00000549919.1_Missense_Mutation_p.G137W|TMTC2_ENST00000548305.1_Missense_Mutation_p.G143W	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	143					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGCCGATGTCGGGGCCAGTCT	0.547																																																0													115	95	102					12																	83251132		2203	4300	6503	SO:0001583	missense	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.427G>T	chr12.hg19:g.83251132G>T	ENSP00000322300:p.Gly143Trp		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	hg19	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146896	0.77888	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.60797	0.82;0.16;0.72	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.80171	-0.1493	10	0.72032	D	0.01	-15.2295	18.1624	0.89712	0.0:0.0:1.0:0.0	.	143;143	Q8N394;F8VSH2	TMTC2_HUMAN;.	W	143;143;137	ENSP00000322300:G143W;ENSP00000448292:G143W;ENSP00000447609:G137W	ENSP00000322300:G143W	G	+	1	0	TMTC2	81775263	1.000000	0.71417	0.941000	0.38009	0.945000	0.59286	9.174000	0.94824	2.788000	0.95919	0.650000	0.86243	GGG		0.547	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		T	83251132	G	T	83251132	3	4	86	1	0	0	0	0	1	0	0	0	16266	1116	39	4	433	4	TMTC2	12	83251132	Missense_Mutation	SNP	G	TCGA-A4-A5Y0-01A-11D-A31X-10		83251132	50600763	33	5741											
FOXA1	3169	hgsc.bcm.edu	37	14	38060788	38060788	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr14:38060788A>T	ENST00000250448.2	-	2	1262	c.1201T>A	c.(1201-1203)Tcc>Acc	p.S401T	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.S368T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	401					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TTGTTGATGGAGAACGGGTGG	0.602																																																0													109	78	89					14																	38060788		2203	4300	6503	SO:0001583	missense	3169			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1201T>A	chr14.hg19:g.38060788A>T	ENSP00000250448:p.Ser401Thr		B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	hg19	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861765	0.71949	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.72051	-0.62;-0.62	4.29	4.29	0.51040	Forkhead box protein, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83727	0.5317	M	0.83384	2.64	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.86303	0.1681	10	0.87932	D	0	.	12.5253	0.56083	1.0:0.0:0.0:0.0	.	401	P55317	FOXA1_HUMAN	T	401;368	ENSP00000250448:S401T;ENSP00000440178:S368T	ENSP00000250448:S401T	S	-	1	0	FOXA1	37130539	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.050000	0.93843	1.798000	0.52647	0.329000	0.21502	TCC		0.602	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			T	38060788	A	T	38060788	3	4	86	1	0	0	0	0	1	0	0	0	5991	304	11	5	221	5	FOXA1	14	38060788	Missense_Mutation	SNP	A	TCGA-A4-A5Y0-01A-11D-A31X-10		38060788	69288752	34	5742											
RAGE	5891	hgsc.bcm.edu	37	14	102718326	102718326	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr14:102718326C>A	ENST00000361847.2	-	5	521	c.290G>T	c.(289-291)aGa>aTa	p.R97I	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.R97I|MOK_ENST00000524214.1_Missense_Mutation_p.R67I	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TAATGGGTATCTTCTCCCTGT	0.333																																																0													73	80	78					14																	102718326		2203	4299	6502	SO:0001583	missense	5891			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.290G>T	chr14.hg19:g.102718326C>A	ENSP00000355304:p.Arg97Ile		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	hg19	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703155	0.48412	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.45668	0.89;0.89;0.89	5.42	4.52	0.55395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.177262	0.50627	D	0.000113	T	0.49762	0.1576	L	0.55481	1.735	0.80722	D	1	D;D	0.53151	0.958;0.958	P;P	0.55667	0.781;0.781	T	0.51395	-0.8711	10	0.72032	D	0.01	-8.7163	8.6721	0.34156	0.0:0.765:0.154:0.081	.	67;97	E7ERR8;Q9UQ07	.;MOK_HUMAN	I	97;97;67	ENSP00000429469:R97I;ENSP00000355304:R97I;ENSP00000428942:R67I	ENSP00000355304:R97I	R	-	2	0	RAGE	101788079	1.000000	0.71417	0.988000	0.46212	0.863000	0.49368	1.056000	0.30480	1.273000	0.44346	0.650000	0.86243	AGA		0.333	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			A	102718326	C	A	102718326	3	1	86	1	0	0	0	0	1	0	0	0	13012	913	32	4	1001	4	RAGE	14	102718326	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10	64657538	102718326	4631214	35	5743											
C15orf56	644809	hgsc.bcm.edu	37	15	40544920	40544920	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr15:40544920C>T	ENST00000319503.3	-	1	191	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000260404.4_Intron|C15orf56_ENST00000559727.1_Missense_Mutation_p.R57Q|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000560346.1_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	57										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		CCCGGAGGTTCGCGGCGAGAG	0.756																																																0													4	5	5					15																	40544920		2008	3995	6003	SO:0001583	missense	644809				CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.170G>A	chr15.hg19:g.40544920C>T	ENSP00000315794:p.Arg57Gln			Missense_Mutation	SNP	ENST00000319503.3	hg19	CCDS32197.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440220	0.25900	.	.	ENSG00000176753	ENST00000319503	T	0.30714	1.52	2.0	-1.71	0.08133	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	0.999999	P	0.44241	0.829	B	0.29353	0.101	T	0.17868	-1.0355	9	0.87932	D	0	.	3.9423	0.09333	0.0:0.3247:0.4801:0.1952	.	57	Q8N910	CO056_HUMAN	Q	57	ENSP00000315794:R57Q	ENSP00000315794:R57Q	R	-	2	0	C15orf56	38332212	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.435000	0.07264	-1.253000	0.01494	CGA		0.756	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418370.2	NM_001039905		T	40544920	C	T	40544920	3	4	86	1	0	0	0	0	1	0	0	0	1806	884	31	1	323	1	C15orf56	15	40544920	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10		40544920	61986472	36	5744											
CASC5	57082	hgsc.bcm.edu	37	15	40914359	40914359	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr15:40914359delA	ENST00000346991.5	+	11	2365	c.1975delA	c.(1975-1977)agcfs	p.S659fs	CASC5_ENST00000399668.2_Frame_Shift_Del_p.S633fs|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	659	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGCCAAAAACAGCTTAACCGA	0.388																																																0													82	79	80					15																	40914359		1881	4102	5983	SO:0001589	frameshift_variant	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1975delA	chr15.hg19:g.40914359delA	ENSP00000335463:p.Ser659fs		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Frame_Shift_Del	DEL	ENST00000346991.5	hg19	CCDS42023.1																																																																																				0.388	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		-	40914359	A	-	40914359	7	5	86	1	0	1	0	1	0	0	0	0	2665	188	7	0	2013	0	CASC5	15	40914359	Frame_Shift_Del	DEL	A	TCGA-A4-A5Y0-01A-11D-A31X-10	369439	40914359	61617033	37	5745											
EME2	197342	hgsc.bcm.edu	37	16	1826070	1826070	+	Splice_Site	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr16:1826070C>T	ENST00000568449.1	+	8	992	c.971C>T	c.(970-972)gCg>gTg	p.A324V	EME2_ENST00000307394.7_Splice_Site_p.A389V|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	324					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						TGCTCCTAGGCGCTGGAGGCC	0.726								Direct reversal of damage;Homologous recombination																																								0													20	23	22					16																	1826070		2187	4278	6465	SO:0001630	splice_region_variant	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.970-1C>T	chr16.hg19:g.1826070C>T			Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	hg19	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716192	0.68844	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	3.4	2.43	0.29744	ERCC4 domain (2);	0.097008	0.41396	D	0.000895	T	0.75664	0.3880	M	0.80847	2.515	0.53688	D	0.999978	D;D	0.89917	1.0;0.977	D;B	0.91635	0.999;0.425	T	0.74405	-0.3676	9	0.49607	T	0.09	-7.8093	8.3214	0.32132	0.0:0.883:0.0:0.117	.	338;190	A4GXA9;A4GXA9-2	EME2_HUMAN;.	V	389;345	.	ENSP00000303779:A389V	A	+	2	0	EME2	1766071	0.931000	0.31567	0.515000	0.27774	0.021000	0.10359	1.875000	0.39578	0.756000	0.33013	0.561000	0.74099	GCG		0.726	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865	Missense_Mutation	T	1826070	C	T	1826070	5	4	86	1	0	0	0	0	0	0	1	0	5091	782	27	1	1196	1	EME2	16	1826070	Splice_Site	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10		1826070	88528683	38	5746											
ABCA3	21	hgsc.bcm.edu	37	16	2369834	2369834	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr16:2369834G>C	ENST00000301732.5	-	8	1321	c.621C>G	c.(619-621)atC>atG	p.I207M	ABCA3_ENST00000382381.3_Missense_Mutation_p.I207M	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	207					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGCCTTCCCGGATGTACCCTG	0.652																																																0													71	62	65					16																	2369834		2198	4300	6498	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.621C>G	chr16.hg19:g.2369834G>C	ENSP00000301732:p.Ile207Met		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	hg19	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419127	0.25552	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.89939	-2.59	5.04	3.05	0.35203	.	0.339378	0.32314	N	0.006271	D	0.91858	0.7423	M	0.78637	2.42	0.80722	D	1	B;P;B	0.37370	0.302;0.592;0.287	B;P;B	0.54590	0.297;0.756;0.217	D	0.89048	0.3453	10	0.42905	T	0.14	.	6.8397	0.23955	0.148:0.1482:0.7038:0.0	.	207;269;207	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	M	207;269	ENSP00000301732:I207M	ENSP00000301732:I207M	I	-	3	3	ABCA3	2309835	1.000000	0.71417	0.843000	0.33291	0.138000	0.21146	3.628000	0.54259	0.688000	0.31529	0.655000	0.94253	ATC		0.652	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		C	2369834	G	C	2369834	3	2	86	1	0	0	0	0	1	0	0	0	33	1164	41	4	4597	4	ABCA3	16	2369834	Missense_Mutation	SNP	G	TCGA-A4-A5Y0-01A-11D-A31X-10	543764	2369834	87984919	39	5747											
ADCY9	115	hgsc.bcm.edu	37	16	4042307	4042307	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr16:4042307delC	ENST00000294016.3	-	5	2585	c.2047delG	c.(2047-2049)gagfs	p.E683fs	ADCY9_ENST00000571889.1_Intron	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	683					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGAGCTTCTCCTCTTGGGGA	0.582																																																0													72	67	69					16																	4042307		2197	4300	6497	SO:0001589	frameshift_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2047delG	chr16.hg19:g.4042307delC	ENSP00000294016:p.Glu683fs		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Frame_Shift_Del	DEL	ENST00000294016.3	hg19	CCDS32382.1																																																																																				0.582	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			-	4042307	C	-	4042307	7	5	86	1	0	1	0	1	0	0	0	0	301	864	30	0	2042	0	ADCY9	16	4042307	Frame_Shift_Del	DEL	C	TCGA-A4-A5Y0-01A-11D-A31X-10	1672473	4042307	86312446	40	5748											
PRM3	5620	hgsc.bcm.edu	37	16	11367405	11367405	+	IGR	SNP	G	G	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr16:11367405G>C	ENST00000241808.4	-	0	680				RMI2_ENST00000572173.1_Intron|PRM3_ENST00000327157.2_Missense_Mutation_p.H16Q|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2						cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						ggcctgggctgtggcctgggc	0.617																																																1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											28	30	29					16																	11367405		1980	4149	6129	SO:0001628	intergenic_variant	58531				CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"cancer/testis antigen family 94, member 2"	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317		chr16.hg19:g.11367405G>C			Q6ZMM0	Missense_Mutation	SNP	ENST00000241808.4	hg19	CCDS42118.1	.	.	.	.	.	.	.	.	.	.	G	2.311	-0.357977	0.05138	.	.	ENSG00000178257	ENST00000327157	T	0.53640	0.61	0.559	-1.12	0.09808	.	.	.	.	.	T	0.39963	0.1098	N	0.19112	0.55	0.09310	N	0.999999	P	0.47106	0.89	P	0.55055	0.767	T	0.31081	-0.9956	8	0.66056	D	0.02	.	.	.	.	.	16	Q9NNZ6	PRM3_HUMAN	Q	16	ENSP00000325638:H16Q	ENSP00000325638:H16Q	H	-	3	2	PRM3	11274906	0.193000	0.23313	0.002000	0.10522	0.005000	0.04900	-0.194000	0.09559	-1.041000	0.03266	-1.036000	0.02392	CAC		0.617	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			C	11367405	G	C	11367405	1	2	86	0	1	0	0	0	0	0	0	0	12539	1368	48	4		4	PRM3	16	11367405	IGR	SNP	G	TCGA-A4-A5Y0-01A-11D-A31X-10	7325098	11367405	78987348	41	5749											
DCTPP1	79077	hgsc.bcm.edu	37	16	30435583	30435583	+	Missense_Mutation	SNP	A	A	T	rs36092481		TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr16:30435583A>T	ENST00000319285.4	-	3	578	c.484T>A	c.(484-486)Tgt>Agt	p.C162S	DCTPP1_ENST00000568434.1_Missense_Mutation_p.C41S|ZNF771_ENST00000566625.1_Intron|DCTPP1_ENST00000568973.1_Missense_Mutation_p.C41S|DCTPP1_ENST00000565758.1_Missense_Mutation_p.C41S|DCTPP1_ENST00000567983.1_Missense_Mutation_p.C63S	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	162					nucleoside triphosphate catabolic process (GO:0009143)|protein homotetramerization (GO:0051289)	cytosol (GO:0005829)	dCTP diphosphatase activity (GO:0047840)|magnesium ion binding (GO:0000287)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|pyrimidine deoxyribonucleotide binding (GO:0032556)			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						GTGGAGTCACAGGGAATGTCC	0.597																																																0													40	37	38					16																	30435583		2197	4300	6497	SO:0001583	missense	79077			BC001344	CCDS10680.1	16p11.2	2009-02-11			ENSG00000179958	ENSG00000179958	3.6.1.12		28777	protein-coding gene	gene with protein product	"XTP3-transactivated protein A"	615840				15740738	Standard	NM_024096		Approved	MGC5627, RS21C6, CDA03, XTP3TPA	uc002dyf.3	Q9H773	OTTHUMG00000132416	ENST00000319285.4:c.484T>A	chr16.hg19:g.30435583A>T	ENSP00000322524:p.Cys162Ser			Missense_Mutation	SNP	ENST00000319285.4	hg19	CCDS10680.1	.	.	.	.	.	.	.	.	.	.	A	1.012	-0.687538	0.03328	.	.	ENSG00000179958	ENST00000319285	.	.	.	3.72	-0.855	0.10700	.	1.452180	0.04273	N	0.342559	T	0.23611	0.0571	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17531	-1.0366	9	0.05525	T	0.97	-32.526	6.9119	0.24340	0.5009:0.0:0.4991:0.0	.	162	Q9H773	DCTP1_HUMAN	S	162	.	ENSP00000322524:C162S	C	-	1	0	DCTPP1	30343084	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.017000	0.12590	-0.100000	0.12241	-0.353000	0.07706	TGT		0.597	DCTPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255553.2	NM_024096		T	30435583	A	T	30435583	3	4	86	1	0	0	0	0	1	0	0	0	4314	188	7	5	32	5	DCTPP1	16	30435583	Missense_Mutation	SNP	A	TCGA-A4-A5Y0-01A-11D-A31X-10	19068178	30435583	59919170	42	5750											
DHX38	9785	hgsc.bcm.edu	37	16	72142801	72142801	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr16:72142801C>T	ENST00000268482.3	+	24	3867	c.3358C>T	c.(3358-3360)Cac>Tac	p.H1120Y	DHX38_ENST00000536867.1_Missense_Mutation_p.H432Y	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1120					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CATAGTGTATCACGAGTTGGT	0.542																																					Melanoma(97;711 1442 7855 13832 28836)											0													78	64	69					16																	72142801		2198	4300	6498	SO:0001583	missense	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3358C>T	chr16.hg19:g.72142801C>T	ENSP00000268482:p.His1120Tyr		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	hg19	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922424	0.92319	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02656	4.21;4.21	5.14	5.14	0.70334	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.02683	-1.1124	10	0.52906	T	0.07	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	432;1120	B4DVG8;Q92620	.;PRP16_HUMAN	Y	1120;432	ENSP00000268482:H1120Y;ENSP00000437898:H432Y	ENSP00000268482:H1120Y	H	+	1	0	DHX38	70700302	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	7.097000	0.76967	2.677000	0.91161	0.655000	0.94253	CAC		0.542	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		T	72142801	C	T	72142801	3	4	86	1	0	0	0	0	1	0	0	0	4513	826	29	2	3448	2	DHX38	16	72142801	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10	41707218	72142801	18211952	43	5751											
MYH13	8735	hgsc.bcm.edu	37	17	10215392	10215392	+	Splice_Site	DEL	A	A	-			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:10215392delA	ENST00000418404.3	-	31	4530	c.4367delT	c.(4366-4368)gtc>gc	p.V1456fs	MYH13_ENST00000252172.4_Splice_Site_p.V1456fs|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1456					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTGCAAGGACCTGGGAGAT	0.517																																																0													56	54	55					17																	10215392		1981	4180	6161	SO:0001630	splice_region_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4366-1T>-	chr17.hg19:g.10215392delA			O95252|Q9P0U8	Frame_Shift_Del	DEL	ENST00000418404.3	hg19	CCDS45613.1																																																																																				0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	Frame_Shift_Del	-	10215392	A	-	10215392	8	5	86	1	0	1	0	1	0	0	1	0	10034	289	10	0	1489	0	MYH13	17	10215392	Splice_Site	DEL	A	TCGA-A4-A5Y0-01A-11D-A31X-10		10215392	70979818	44	5752											
NCOR1	9611	hgsc.bcm.edu	37	17	15971431	15971431	+	Silent	SNP	T	T	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:15971431T>G	ENST00000268712.3	-	32	4775	c.4518A>C	c.(4516-4518)acA>acC	p.T1506T	NCOR1_ENST00000395851.1_Silent_p.T1522T|NCOR1_ENST00000395857.3_Silent_p.T90T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1506	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TAGAAGAAATTGTAACTGGAA	0.403																																																0													33	33	33					17																	15971431		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4518A>C	chr17.hg19:g.15971431T>G			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.162182	0.38217	.	.	ENSG00000141027	ENST00000395849	.	.	.	5.76	-9.98	0.00438	.	.	.	.	.	.	.	.	.	.	.	0.36017	D	0.8385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.3886	0.07281	0.1594:0.3155:0.0807:0.4444	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15912156	0.000000	0.05858	0.041000	0.18516	0.927000	0.56198	-0.918000	0.04021	-1.256000	0.02478	0.460000	0.39030	.		0.403	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		G	15971431	T	G	15971431	2	3	86	1	0	0	0	0	0	0	0	1	10237	1799	63	5		5	NCOR1	17	15971431	Silent	SNP	T	TCGA-A4-A5Y0-01A-11D-A31X-10	5756039	15971431	65223779	45	5753											
CCR7	1236	hgsc.bcm.edu	37	17	38711306	38711306	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:38711306G>T	ENST00000246657.2	-	3	887	c.825C>A	c.(823-825)ttC>ttA	p.F275L	CCR7_ENST00000579344.1_Missense_Mutation_p.F269L	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	275					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AGGGCAGCTGGAAGACTATGA	0.552																																																0													209	173	185					17																	38711306		2203	4300	6503	SO:0001583	missense	1236				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.825C>A	chr17.hg19:g.38711306G>T	ENSP00000246657:p.Phe275Leu			Missense_Mutation	SNP	ENST00000246657.2	hg19	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286284	0.80803	.	.	ENSG00000126353	ENST00000246657	T	0.35973	1.28	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.225560	0.45867	D	0.000323	T	0.43033	0.1229	L	0.58669	1.825	0.80722	D	1	B	0.22541	0.071	B	0.30401	0.115	T	0.18023	-1.0350	10	0.35671	T	0.21	.	20.1082	0.97900	0.0:0.0:1.0:0.0	.	275	P32248	CCR7_HUMAN	L	275	ENSP00000246657:F275L	ENSP00000246657:F275L	F	-	3	2	CCR7	35964832	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.764000	0.94973	0.555000	0.69702	TTC		0.552	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			T	38711306	G	T	38711306	3	4	86	1	0	0	0	0	1	0	0	0	2948	1165	41	4	315	4	CCR7	17	38711306	Missense_Mutation	SNP	G	TCGA-A4-A5Y0-01A-11D-A31X-10	22739875	38711306	42483904	46	5754											
KIF2B	84643	hgsc.bcm.edu	37	17	51901648	51901648	+	Silent	SNP	C	C	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr17:51901648C>T	ENST00000268919.4	+	1	1410	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	418	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAACACCTGTCAACGCTCACT	0.512																																																0													102	76	85					17																	51901648		2203	4300	6503	SO:0001819	synonymous_variant	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1254C>T	chr17.hg19:g.51901648C>T			Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	hg19	CCDS32685.1																																																																																				0.512	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51901648	C	T	51901648	2	4	86	1	0	0	0	0	0	0	0	1	8300	813	29	2		2	KIF2B	17	51901648	Silent	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10	13190342	51901648	29293562	47	5755											
ANKRD12	23253	hgsc.bcm.edu	37	18	9257703	9257703	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr18:9257703C>G	ENST00000262126.4	+	9	4678	c.4438C>G	c.(4438-4440)Cag>Gag	p.Q1480E	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Missense_Mutation_p.Q1457E|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1457E	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1480						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTCTTGTGCTCAGGATCCGGC	0.418																																																0													49	52	51					18																	9257703		2200	4299	6499	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.4438C>G	chr18.hg19:g.9257703C>G	ENSP00000262126:p.Gln1480Glu		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	hg19	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234306	0.39498	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.68479	-0.33;-0.33	5.69	5.69	0.88448	.	0.303615	0.32444	N	0.006084	T	0.55768	0.1941	L	0.29908	0.895	0.44946	D	0.997969	P;P	0.38195	0.571;0.622	B;B	0.31101	0.124;0.097	T	0.58967	-0.7542	10	0.48119	T	0.1	-11.1383	19.8263	0.96618	0.0:1.0:0.0:0.0	.	1457;1480	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	E	1457;1480	ENSP00000372932:Q1457E;ENSP00000262126:Q1480E	ENSP00000262126:Q1480E	Q	+	1	0	ANKRD12	9247703	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	5.359000	0.66074	2.676000	0.91093	0.655000	0.94253	CAG		0.418	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		G	9257703	C	G	9257703	3	3	86	1	0	0	0	0	1	0	0	0	640	827	29	4	4468	4	ANKRD12	18	9257703	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10		9257703	68819545	48	5756											
MBP	4155	hgsc.bcm.edu	37	18	74700845	74700845	+	Silent	SNP	C	C	T	rs112511603		TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr18:74700845C>T	ENST00000397869.3	-	3	352	c.306G>A	c.(304-306)ccG>ccA	p.P102P	MBP_ENST00000397865.5_Silent_p.P102P|MBP_ENST00000580402.1_Silent_p.P235P|MBP_ENST00000526111.1_Silent_p.P80P|MBP_ENST00000354542.4_Intron|MBP_ENST00000397875.3_Silent_p.P112P|MBP_ENST00000355994.2_Silent_p.P235P|MBP_ENST00000527041.1_Intron|MBP_ENST00000578193.1_Silent_p.P102P|MBP_ENST00000359645.3_Silent_p.P128P|MBP_ENST00000528160.1_Intron|MBP_ENST00000579129.1_Silent_p.P235P|MBP_ENST00000382582.3_Silent_p.P128P|MBP_ENST00000397866.4_Silent_p.P102P			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	TTCCCTGCGACGGGGGTGGTG	0.527																																					NSCLC(17;72 1131 19392)											0													121	130	127					18																	74700845		2203	4300	6503	SO:0001819	synonymous_variant	4155				CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.306G>A	chr18.hg19:g.74700845C>T			A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Silent	SNP	ENST00000397869.3	hg19																																																																																					0.527	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		T	74700845	C	T	74700845	2	4	86	1	0	0	0	0	0	0	0	1	9361	523	19	1		1	MBP	18	74700845	Silent	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10	65443142	74700845	3376403	49	5757											
XAB2	56949	hgsc.bcm.edu	37	19	7691039	7691039	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr19:7691039C>A	ENST00000358368.4	-	5	677	c.640G>T	c.(640-642)Ggc>Tgc	p.G214C	XAB2_ENST00000534844.1_Missense_Mutation_p.G211C	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	214					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G211S(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TTGGACTTGCCGGCCTTAGAC	0.642								Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	lung(1)											63	69	67					19																	7691039		2203	4299	6502	SO:0001583	missense	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.640G>T	chr19.hg19:g.7691039C>A	ENSP00000351137:p.Gly214Cys		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	hg19	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386274	0.61956	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.63417	-0.04;-0.04	4.84	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.81221	0.4777	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83505	0.0077	10	0.87932	D	0	-43.9904	10.2415	0.43314	0.0:0.9057:0.0:0.0943	.	214	Q9HCS7	SYF1_HUMAN	C	214;211	ENSP00000351137:G214C;ENSP00000438225:G211C	ENSP00000351137:G214C	G	-	1	0	XAB2	7597039	1.000000	0.71417	0.986000	0.45419	0.502000	0.33828	7.343000	0.79319	1.033000	0.39918	0.455000	0.32223	GGC		0.642	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		A	7691039	C	A	7691039	3	1	86	1	0	0	0	0	1	0	0	0	17423	652	23	4	1987	4	XAB2	19	7691039	Missense_Mutation	SNP	C	TCGA-A4-A5Y0-01A-11D-A31X-10		7691039	51437944	50	5758											
ZNF43	7594	hgsc.bcm.edu	37	19	21990696	21990696	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr19:21990696A>T	ENST00000354959.4	-	4	2312	c.2143T>A	c.(2143-2145)Ttt>Att	p.F715I	ZNF43_ENST00000598381.1_Missense_Mutation_p.F709I|ZNF43_ENST00000594012.1_Missense_Mutation_p.F709I|ZNF43_ENST00000595461.1_Missense_Mutation_p.F709I	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	715					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GATCGGTTAAAAGCTTTGCCA	0.363																																																0													50	54	53					19																	21990696		2203	4299	6502	SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2143T>A	chr19.hg19:g.21990696A>T	ENSP00000347045:p.Phe715Ile		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	hg19	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311136	0.60414	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.46451	0.87	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66499	0.2795	M	0.91972	3.26	0.36120	D	0.845417	D	0.89917	1.0	D	0.81914	0.995	T	0.73953	-0.3820	9	0.87932	D	0	.	8.2856	0.31926	1.0:0.0:0.0:0.0	.	715	P17038	ZNF43_HUMAN	I	714;715	ENSP00000347045:F715I	ENSP00000347045:F715I	F	-	1	0	ZNF43	21782536	0.986000	0.35501	0.177000	0.23020	0.629000	0.37895	6.109000	0.71528	0.808000	0.34231	0.254000	0.18369	TTT		0.363	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		T	21990696	A	T	21990696	3	4	86	1	0	0	0	0	1	0	0	0	17908	14	1	5	290	5	ZNF43	19	21990696	Missense_Mutation	SNP	A	TCGA-A4-A5Y0-01A-11D-A31X-10	14299657	21990696	37138287	51	5759											
FBXO46	23403	hgsc.bcm.edu	37	19	46215847	46215847	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr19:46215847T>C	ENST00000317683.3	-	2	1040	c.907A>G	c.(907-909)Aag>Gag	p.K303E		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	303										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CATGTGATCTTGTCCTTGGCT	0.682																																																0													31	36	34					19																	46215847		2004	4156	6160	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.907A>G	chr19.hg19:g.46215847T>C	ENSP00000410007:p.Lys303Glu			Missense_Mutation	SNP	ENST00000317683.3	hg19	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498092	0.26861	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.39	3.37	0.38596	.	.	.	.	.	T	0.32194	0.0821	N	0.22421	0.69	0.38310	D	0.943215	B	0.31705	0.336	B	0.27796	0.083	T	0.12915	-1.0529	8	0.28530	T	0.3	-10.0116	6.4522	0.21910	0.0:0.1111:0.0:0.8889	.	303	Q6PJ61	FBX46_HUMAN	E	303	.	ENSP00000410007:K303E	K	-	1	0	FBXO46	50907687	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	3.177000	0.50871	0.737000	0.32582	-0.371000	0.07208	AAG		0.682	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		C	46215847	T	C	46215847	3	2	86	1	0	0	0	0	1	0	0	0	5757	1821	63	3	908	3	FBXO46	19	46215847	Missense_Mutation	SNP	T	TCGA-A4-A5Y0-01A-11D-A31X-10	24225151	46215847	12913136	52	5760											
EDN3	1908	hgsc.bcm.edu	37	20	57876603	57876603	+	Missense_Mutation	SNP	G	G	T	rs457651		TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chr20:57876603G>T	ENST00000337938.2	+	2	577	c.191G>T	c.(190-192)gGg>gTg	p.G64V	EDN3_ENST00000371025.3_Missense_Mutation_p.G64V|EDN3_ENST00000395654.3_Missense_Mutation_p.G64V|EDN3_ENST00000371028.2_Missense_Mutation_p.G64V|EDN3_ENST00000311585.7_Missense_Mutation_p.G64V	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	64					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CCTGGCGAGGGGACTGTGGCC	0.716																																																0													33	37	35					20																	57876603		2201	4300	6501	SO:0001583	missense	1908			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"Endogenous ligands"	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.191G>T	chr20.hg19:g.57876603G>T	ENSP00000337128:p.Gly64Val		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	hg19	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720028	0.30503	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	3.59	-7.18	0.01505	.	.	.	.	.	T	0.63105	0.2483	N	0.08118	0	0.09310	N	1	P;P;P;P	0.38110	0.618;0.543;0.483;0.51	B;B;B;B	0.33690	0.168;0.138;0.081;0.067	T	0.61053	-0.7140	9	0.36615	T	0.2	1.9985	0.3953	0.00417	0.2776:0.1274:0.2815:0.3135	.	64;64;64;64	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	V	64	ENSP00000337128:G64V;ENSP00000311854:G64V;ENSP00000360067:G64V;ENSP00000360064:G64V;ENSP00000379015:G64V	ENSP00000311854:G64V	G	+	2	0	EDN3	57309998	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	-0.348000	0.07740	-1.885000	0.01118	0.313000	0.20887	GGG		0.716	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		T	57876603	G	T	57876603	3	4	86	1	0	0	0	0	1	0	0	0	4920	1232	43	4	197	4	EDN3	20	57876603	Missense_Mutation	SNP	G	TCGA-A4-A5Y0-01A-11D-A31X-10		57876603	5148917	53	5761											
AR	367	hgsc.bcm.edu	37	X	66765207	66765208	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-A4-A5Y0-01A-11D-A31X-10	TCGA-A4-A5Y0-11A-11D-A31X-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	257fa140-0c01-4edc-8247-82c96ecfb384	6022828f-21e4-4e71-8abd-439d01decea4	g.chrX:66765207_66765208GC>AG	ENST00000374690.3	+	1	743_744	c.219_220GC>AG	c.(217-222)caGCag>caAGag	p.Q74E	AR_ENST00000504326.1_Missense_Mutation_p.Q74E|AR_ENST00000396044.3_Missense_Mutation_p.Q74E|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	74	Gln-rich.|Modulating.|Poly-Gln.		Missing.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	agcagcagcagcagcagcagca	0.668									Androgen Insensitivity Syndrome																																							0																																										SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	Exception_encountered	chrX.hg19:g.66765207_66765208delinsAG	ENSP00000363822:p.Gln74Glu		A2RUN2|B1AKD7|Q9UD95	Silent|Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1																																																																																				0.668	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		AG	66765208	GC	AG	66765207	3	1	86	1	0	0	0	0	1	0	0	0	836	962	34	2	221	2	AR	23	66765207	Missense_Mutation	DNP	GC	TCGA-A4-A5Y0-01A-11D-A31X-10		66765207	88505353	54	5762											
KLHL17	339451	hgsc.bcm.edu	37	1	898748	898748	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:898748G>A	ENST00000338591.3	+	8	1326	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	407	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCTACCGTGGAGTCCTACGA	0.622																																																0													90	75	80					1																	898748		2202	4300	6502	SO:0001583	missense	339451			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1219G>A	chr1.hg19:g.898748G>A	ENSP00000343930:p.Glu407Lys		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	hg19	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	36	5.935264	0.97122	.	.	ENSG00000187961	ENST00000338591;ENST00000455747;ENST00000540863	D	0.84516	-1.86	5.37	5.37	0.77165	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95452	0.8523	H	0.98965	4.385	0.80722	D	1	D	0.57571	0.98	P	0.60012	0.867	D	0.97376	0.9979	10	0.87932	D	0	.	19.0966	0.93255	0.0:0.0:1.0:0.0	.	407	Q6TDP4	KLH17_HUMAN	K	407;283;130	ENSP00000343930:E407K	ENSP00000343930:E407K	E	+	1	0	KLHL17	888611	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.708000	0.98727	2.532000	0.85374	0.448000	0.29417	GAG		0.622	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		A	898748	G	A	898748	3	1	87	1	0	0	0	0	1	0	0	0	8374	1175	41	2	1249	2	KLHL17	1	898748	Missense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10		898748	248351873	1	5763											
FGGY	55277	hgsc.bcm.edu	37	1	60019871	60019884	+	Frame_Shift_Del	DEL	TCTGTGGAACGTCT	TCTGTGGAACGTCT	-	rs144977691|rs116481036|rs147926450	byFrequency	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	TCTGTGGAACGTCT	TCTGTGGAACGTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:60019871_60019884delTCTGTGGAACGTCT	ENST00000303721.7	+	8	1049_1062	c.875_888delTCTGTGGAACGTCT	c.(874-888)atctgtggaacgtctfs	p.ICGTS292fs	FGGY_ENST00000371212.1_Frame_Shift_Del_p.ICGTS204fs|FGGY_ENST00000371218.4_Frame_Shift_Del_p.ICGTS292fs|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371210.1_5'UTR	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	292					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CTGGCTGTCATCTGTGGAACGTCTTCTTGTCACA	0.561																																																0																																										SO:0001589	frameshift_variant	55277				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.875_888delTCTGTGGAACGTCT	chr1.hg19:g.60019871_60019884delTCTGTGGAACGTCT	ENSP00000305922:p.Ile292fs		B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Del	DEL	ENST00000303721.7	hg19	CCDS611.2																																																																																				0.561	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		-	60019884	TCTGTGGAACGTCT	-	60019871	7	5	87	1	0	1	0	1	0	0	0	0	5873	1435	50	0	901	0	FGGY	1	60019871	Frame_Shift_Del	DEL	TCTGTGGAACGTCT	TCGA-A4-A5Y1-01A-11D-A28G-10	59121123	60019871	189230750	2	5764											
CD1C	911	hgsc.bcm.edu	37	1	158261919	158261919	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:158261919G>A	ENST00000368170.3	+	3	653	c.374G>A	c.(373-375)gGa>gAa	p.G125E		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	125					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CTGCATTCTGGAAAGAGCCCA	0.448																																																0													91	98	95					1																	158261919		2203	4300	6503	SO:0001583	missense	911			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.374G>A	chr1.hg19:g.158261919G>A	ENSP00000357152:p.Gly125Glu		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	hg19	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	13.26|13.26	2.185038|2.185038	0.38609|0.38609	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170|ENST00000443761	T|.	0.06294|.	3.32|.	3.92|3.92	-0.561|-0.561	0.11785|0.11785	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	2.458490|.	0.01726|.	N|.	0.028603|.	T|.	0.19805|.	0.0476|.	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	P|.	0.52577|.	0.954|.	B|.	0.44278|.	0.445|.	T|.	0.33803|.	-0.9854|.	10|.	0.87932|.	D|.	0|.	.|.	1.0278|1.0278	0.01531|0.01531	0.1994:0.1834:0.4297:0.1875|0.1994:0.1834:0.4297:0.1875	.|.	125|.	P29017|.	CD1C_HUMAN|.	E|X	125|59	ENSP00000357152:G125E|.	ENSP00000357151:G125E|.	G|W	+|+	2|3	0|0	CD1C|CD1C	156528543|156528543	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.020000|0.020000	0.10135|0.10135	-0.226000|-0.226000	0.09139|0.09139	0.093000|0.093000	0.17368|0.17368	0.644000|0.644000	0.83932|0.83932	GGA|TGG		0.448	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		A	158261919	G	A	158261919	3	1	87	1	0	0	0	0	1	0	0	0	2978	1174	41	2	384	2	CD1C	1	158261919	Missense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	98242048	158261919	90988702	3	5765											
C1orf14	81626	hgsc.bcm.edu	37	1	182898789	182898789	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:182898789G>T	ENST00000367547.3	-	6	1411	c.1175C>A	c.(1174-1176)aCt>aAt	p.T392N	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.T273N	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	464										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TACCATTTCAGTAGTCATCAT	0.343																																																0													97	94	95					1																	182898789		2202	4297	6499	SO:0001583	missense	81626			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1175C>A	chr1.hg19:g.182898789G>T	ENSP00000356518:p.Thr392Asn		Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	hg19	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470487	0.43942	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.47869	0.83;0.84	5.88	4.94	0.65067	Carbohydrate-binding/sugar hydrolysis domain (1);	0.212652	0.33092	N	0.005289	T	0.43277	0.1240	L	0.43152	1.355	0.25433	N	0.988169	B;B;B	0.26258	0.09;0.078;0.145	B;B;B	0.29785	0.024;0.034;0.107	T	0.38520	-0.9657	10	0.42905	T	0.14	-11.1083	14.1389	0.65306	0.0:0.1504:0.8496:0.0	.	464;273;392	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	N	392;461;273	ENSP00000356518:T392N;ENSP00000397308:T273N	ENSP00000287709:T461N	T	-	2	0	SHCBP1L	181165412	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.607000	0.67648	1.463000	0.47967	0.644000	0.83932	ACT		0.343	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		T	182898789	G	T	182898789	3	4	87	1	0	0	0	0	1	0	0	0	2002	1029	36	4	806	4	C1orf14	1	182898789	Missense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	24636870	182898789	66351832	4	5766											
SMC6	79677	hgsc.bcm.edu	37	2	17847696	17847696	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:17847696T>G	ENST00000448223.2	-	27	3421	c.3152A>C	c.(3151-3153)cAa>cCa	p.Q1051P	SMC6_ENST00000351948.4_Missense_Mutation_p.Q1051P|SMC6_ENST00000381272.4_Missense_Mutation_p.Q1077P|SMC6_ENST00000402989.1_Missense_Mutation_p.Q1051P	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1051					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTCATGCTTTGAGGTGTGAG	0.308																																																0													76	72	74					2																	17847696		2203	4300	6503	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.3152A>C	chr2.hg19:g.17847696T>G	ENSP00000404092:p.Gln1051Pro		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	hg19	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.786888	0.70337	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	T;T;T;T	0.68181	-0.31;-0.31;2.02;-0.31	6.08	6.08	0.98989	RecF/RecN/SMC (1);	0.054551	0.85682	D	0.000000	T	0.79516	0.4459	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81291	-0.0999	10	0.72032	D	0.01	.	12.8158	0.57665	0.1222:0.0:0.0:0.8778	.	1051	Q96SB8	SMC6_HUMAN	P	1051;1051;1077;1051	ENSP00000404092:Q1051P;ENSP00000323439:Q1051P;ENSP00000370672:Q1077P;ENSP00000384539:Q1051P	ENSP00000323439:Q1051P	Q	-	2	0	SMC6	17711177	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.920000	0.56446	2.333000	0.79357	0.482000	0.46254	CAA		0.308	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		G	17847696	T	G	17847696	3	3	87	1	0	0	0	0	1	0	0	0	14793	1812	63	5	131	5	SMC6	2	17847696	Missense_Mutation	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10		17847696	225351677	5	5767											
ITGA6	3655	hgsc.bcm.edu	37	2	173352476	173352476	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:173352476delA	ENST00000264106.6	+	18	2585	c.2382delA	c.(2380-2382)ttafs	p.L794fs	ITGA6_ENST00000409080.1_Frame_Shift_Del_p.L755fs|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Frame_Shift_Del_p.L755fs|ITGA6_ENST00000409532.1_Frame_Shift_Del_p.L636fs|ITGA6_ENST00000343713.4_Frame_Shift_Del_p.L750fs|ITGA6_ENST00000375221.2_Frame_Shift_Del_p.L794fs			P23229	ITA6_HUMAN	integrin, alpha 6	794					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATTTGGTTTTAAGTACAACTG	0.333																																																0													123	118	120					2																	173352476		2203	4300	6503	SO:0001589	frameshift_variant	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2382delA	chr2.hg19:g.173352476delA	ENSP00000264106:p.Leu794fs		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Frame_Shift_Del	DEL	ENST00000264106.6	hg19																																																																																					0.333	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				-	173352476	A	-	173352476	7	5	87	1	0	1	0	1	0	0	0	0	7882	359	13	0	2331	0	ITGA6	2	173352476	Frame_Shift_Del	DEL	A	TCGA-A4-A5Y1-01A-11D-A28G-10	155504780	173352476	69846897	6	5768											
TTN	7273	hgsc.bcm.edu	37	2	179547441	179547441	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:179547441T>G	ENST00000591111.1	-	133	32350	c.32126A>C	c.(32125-32127)cAt>cCt	p.H10709P	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H9782P|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H11026P|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)			GTATTCTTCATGCTCTTCATA	0.338																																																0													257	246	249					2																	179547441		1899	4119	6018	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32126A>C	chr2.hg19:g.179547441T>G	ENSP00000465570:p.His10709Pro		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	T	3.299	-0.143379	0.06669	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.68331	-0.32;-0.1	4.98	2.59	0.31030	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46889	0.1416	N	0.19112	0.55	0.58432	D	0.999996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.35674	-0.9779	9	0.87932	D	0	.	5.0483	0.14496	0.0:0.1647:0.1536:0.6817	.	10709;10445	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	P	9782;640	ENSP00000343764:H9782P;ENSP00000401501:H640P	ENSP00000343764:H9782P	H	-	2	0	TTN	179255686	0.000000	0.05858	0.989000	0.46669	0.230000	0.25150	-0.913000	0.04042	0.338000	0.23692	-0.256000	0.11100	CAT		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179547441	T	G	179547441	3	3	87	1	0	0	0	0	1	0	0	0	16740	1464	51	5	71364	5	TTN	2	179547441	Missense_Mutation	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10	6194965	179547441	63651932	7	5769											
SSFA2	6744	hgsc.bcm.edu	37	2	182765617	182765618	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:182765617_182765618insT	ENST00000431877.2	+	7	877_878	c.698_699insT	c.(697-702)aattatfs	p.Y234fs	SSFA2_ENST00000409001.1_Frame_Shift_Ins_p.Y234fs|SSFA2_ENST00000320370.7_Frame_Shift_Ins_p.Y234fs|SSFA2_ENST00000428267.2_Frame_Shift_Ins_p.Y81fs	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	234						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GAAAACCCAAATTATGCTTTAA	0.302																																																0																																										SO:0001589	frameshift_variant	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.700dupT	chr2.hg19:g.182765619_182765619dupT	ENSP00000388731:p.Tyr234fs		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Frame_Shift_Ins	INS	ENST00000431877.2	hg19	CCDS46467.1																																																																																				0.302	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		T	182765618	-	T	182765617	7	5	87	1	0	1	1	0	0	0	0	0	15188	101	4	0	724	0	SSFA2	2	182765617	Frame_Shift_Ins	INS	-	TCGA-A4-A5Y1-01A-11D-A28G-10	3218176	182765617	60433756	8	5770											
FSIP2	401024	hgsc.bcm.edu	37	2	186671593	186671593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:186671593C>T	ENST00000424728.1	+	17	17560	c.17560C>T	c.(17560-17562)Cag>Tag	p.Q5854*	FSIP2_ENST00000343098.5_Nonsense_Mutation_p.Q5943*			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5854										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAAGGGAAATCAGTTCCCTGG	0.408																																																0													87	79	82					2																	186671593		1841	4085	5926	SO:0001587	stop_gained	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17560C>T	chr2.hg19:g.186671593C>T	ENSP00000401306:p.Gln5854*		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	ENST00000424728.1	hg19		.	.	.	.	.	.	.	.	.	.	C	55	24.779395	0.99962	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	.	.	.	4.87	1.8	0.24995	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	6.7948	0.23719	0.3174:0.4362:0.2464:0.0	.	.	.	.	X	5943;5854	.	ENSP00000344403:Q5943X	Q	+	1	0	FSIP2	186379838	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.056000	0.11787	0.131000	0.18576	0.591000	0.81541	CAG		0.408	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		T	186671593	C	T	186671593	4	4	87	1	0	0	0	0	0	1	0	0	6077	827	29	2	17893	2	FSIP2	2	186671593	Nonsense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	3905976	186671593	56527780	9	5771											
TNP1	7141	hgsc.bcm.edu	37	2	217724631	217724631	+	Missense_Mutation	SNP	G	G	A	rs561435538		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:217724631G>A	ENST00000236979.2	-	1	156	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	AC007563.5_ENST00000607591.1_RNA|AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	43					chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|fertilization, exchange of chromosomal proteins (GO:0035042)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|sexual reproduction (GO:0019953)|single strand break repair (GO:0000012)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|spermatid nucleus elongation (GO:0007290)	male germ cell nucleus (GO:0001673)|nucleosome (GO:0000786)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCGCCCCGTTTCCTACTT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20388	0.001		0.0	False		,,,				2504	0.0															0													217	195	203					2																	217724631		2203	4300	6503	SO:0001583	missense	7141				CCDS2406.1	2q35-q36	2008-06-03			ENSG00000118245	ENSG00000118245			11951	protein-coding gene	gene with protein product		190231				2249851	Standard	NM_003284		Approved		uc002vgk.3	P09430	OTTHUMG00000133057	ENST00000236979.2:c.127C>T	chr2.hg19:g.217724631G>A	ENSP00000236979:p.Arg43Trp			Missense_Mutation	SNP	ENST00000236979.2	hg19	CCDS2406.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957505	0.34565	.	.	ENSG00000118245	ENST00000236979	.	.	.	5.55	-1.5	0.08691	.	0.000000	0.52532	D	0.000080	T	0.64918	0.2642	.	.	.	0.21105	N	0.99979	D	0.89917	1.0	D	0.76071	0.987	T	0.64807	-0.6320	8	0.87932	D	0	-0.9614	15.5104	0.75776	0.0:0.0:0.2376:0.7624	.	43	P09430	STP1_HUMAN	W	43	.	ENSP00000236979:R43W	R	-	1	2	TNP1	217432876	0.771000	0.28555	0.434000	0.26772	0.816000	0.46133	0.173000	0.16724	-0.090000	0.12462	-0.182000	0.12963	CGG		0.552	TNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256673.1	NM_003284		A	217724631	G	A	217724631	3	1	87	1	0	0	0	0	1	0	0	0	16338	1144	40	1	48	1	TNP1	2	217724631	Missense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	31053038	217724631	25474742	10	5772											
AGFG1	3267	hgsc.bcm.edu	37	2	228399580	228399580	+	Silent	SNP	C	C	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:228399580C>G	ENST00000310078.8	+	8	1304	c.1044C>G	c.(1042-1044)ggC>ggG	p.G348G	AGFG1_ENST00000409315.1_Intron|AGFG1_ENST00000373671.3_Silent_p.G308G|AGFG1_ENST00000409979.2_Silent_p.G372G|AGFG1_ENST00000409171.1_Silent_p.G348G	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	348					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AGGGAAGTGGCTTTGGGACCA	0.433																																																0													154	145	148					2																	228399580		2203	4300	6503	SO:0001819	synonymous_variant	3267				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1044C>G	chr2.hg19:g.228399580C>G			B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Silent	SNP	ENST00000310078.8	hg19	CCDS2467.1																																																																																				0.433	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		G	228399580	C	G	228399580	2	3	87	1	0	0	0	0	0	0	0	1	380	784	28	4		4	AGFG1	2	228399580	Silent	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	10674949	228399580	14799793	11	5773											
SH3BP4	23677	hgsc.bcm.edu	37	2	235943690	235943690	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:235943690C>T	ENST00000409212.1	+	3	551	c.44C>T	c.(43-45)cCt>cTt	p.P15L	SH3BP4_ENST00000392011.2_Missense_Mutation_p.P15L|SH3BP4_ENST00000344528.4_Missense_Mutation_p.P15L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	15					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AATGGCCTCCCTCGCTGCAAG	0.547																																																0													51	53	52					2																	235943690		2203	4300	6503	SO:0001583	missense	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.44C>T	chr2.hg19:g.235943690C>T	ENSP00000386862:p.Pro15Leu		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	hg19	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496478	0.44352	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000444916;ENST00000446904;ENST00000454947	T;T;T;T;T	0.38560	2.49;1.18;2.49;2.49;1.13	4.91	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	L	0.34521	1.04	0.80722	D	1	B;B	0.13594	0.008;0.005	B;B	0.10450	0.005;0.005	T	0.11348	-1.0591	10	0.59425	D	0.04	-11.6851	11.1019	0.48179	0.0:0.9093:0.0:0.0907	.	15;15	A8K594;Q9P0V3	.;SH3B4_HUMAN	L	15	ENSP00000375867:P15L;ENSP00000403251:P15L;ENSP00000386862:P15L;ENSP00000340237:P15L;ENSP00000415391:P15L	ENSP00000340237:P15L	P	+	2	0	SH3BP4	235608429	0.999000	0.42202	0.870000	0.34147	0.360000	0.29518	4.311000	0.59147	1.064000	0.40671	0.655000	0.94253	CCT		0.547	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			T	235943690	C	T	235943690	3	4	87	1	0	0	0	0	1	0	0	0	14252	681	24	2	46	2	SH3BP4	2	235943690	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	7544110	235943690	7255683	12	5774											
SETD2	29072	hgsc.bcm.edu	37	3	47098859	47098859	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr3:47098859delG	ENST00000409792.3	-	15	6457	c.6415delC	c.(6415-6417)caafs	p.Q2140fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2140	Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGCATCTGTTGCTGTTGTTTC	0.478			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													160	148	152					3																	47098859		2203	4300	6503	SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6415delC	chr3.hg19:g.47098859delG	ENSP00000386759:p.Gln2140fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	hg19	CCDS2749.2																																																																																				0.478	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47098859	G	-	47098859	7	5	87	1	0	1	0	1	0	0	0	0	14137	1328	46	0	1307	0	SETD2	3	47098859	Frame_Shift_Del	DEL	G	TCGA-A4-A5Y1-01A-11D-A28G-10		47098859	150923571	13	5775											
ARMC8	25852	hgsc.bcm.edu	37	3	137964017	137964040	+	Splice_Site	DEL	CGGAAGAAGGTGAGTCTGGGAGAG	CGGAAGAAGGTGAGTCTGGGAGAG	-			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	CGGAAGAAGGTGAGTCTGGGAGAG	CGGAAGAAGGTGAGTCTGGGAGAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr3:137964017_137964040delCGGAAGAAGGTGAGTCTGGGAGAG	ENST00000469044.1	+	12	1397_1405	c.1126_1134delCGGAAGAAGGTGAGTCTGGGAGAG	c.(1126-1134)cggaagaagdel	p.RKK376del	ARMC8_ENST00000461822.1_Splice_Site_p.RKK309del|ARMC8_ENST00000538260.1_Splice_Site_p.RKK345del|ARMC8_ENST00000491704.1_Splice_Site_p.RKK334del|ARMC8_ENST00000471453.1_In_Frame_Del_p.RKKVSLGE362del|ARMC8_ENST00000358441.2_In_Frame_Del_p.RKKVSLGE362del|ARMC8_ENST00000470821.1_In_Frame_Del_p.RKKVSLGE376del|ARMC8_ENST00000485396.1_Splice_Site_p.RKK303del|ARMC8_ENST00000489213.1_In_Frame_Del_p.RKKVSLGE334del|ARMC8_ENST00000393058.3_Splice_Site_p.RKK366del|ARMC8_ENST00000481646.1_Splice_Site_p.RKK362del	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	376										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGAAGACATCCGGAAGAAGGTGAGTCTGGGAGAGGGGCGTCCCC	0.491																																																0																																										SO:0001630	splice_region_variant	25852				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1134+1CGGAAGAAGGTGAGTCTGGGAGAG>-	chr3.hg19:g.137964017_137964040delCGGAAGAAGGTGAGTCTGGGAGAG			A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Frame_Shift_Del	DEL	ENST00000469044.1	hg19																																																																																					0.491	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	In_Frame_Del	-	137964040	CGGAAGAAGGTGAGTCTGGGAGAG	-	137964017	8	5	87	1	0	1	0	1	0	0	1	0	957	643	23	0	1130	0	ARMC8	3	137964017	Splice_Site	DEL	CGGAAGAAGGTGAGTCTGGGAGAG	TCGA-A4-A5Y1-01A-11D-A28G-10	90865158	137964017	60058413	14	5776											
GPR87	53836	hgsc.bcm.edu	37	3	151012432	151012432	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr3:151012432A>T	ENST00000260843.4	-	3	1066	c.602T>A	c.(601-603)gTc>gAc	p.V201D	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	201					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGCCATTTGACCCCCAAAGG	0.453																																																0													119	114	116					3																	151012432		2203	4300	6503	SO:0001583	missense	53836			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.602T>A	chr3.hg19:g.151012432A>T	ENSP00000260843:p.Val201Asp		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	hg19	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.721769	0.30503	.	.	ENSG00000138271	ENST00000260843	T	0.36699	1.24	5.45	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.457951	0.21222	N	0.078134	T	0.25082	0.0609	L	0.29908	0.895	0.20821	N	0.999843	B	0.31274	0.317	B	0.38842	0.283	T	0.29027	-1.0025	10	0.10902	T	0.67	-6.9007	8.0205	0.30406	0.6554:0.0:0.3446:0.0	.	201	Q9BY21	GPR87_HUMAN	D	201	ENSP00000260843:V201D	ENSP00000260843:V201D	V	-	2	0	GPR87	152495122	0.000000	0.05858	0.009000	0.14445	0.543000	0.35085	1.208000	0.32345	0.120000	0.18254	-0.408000	0.06270	GTC		0.453	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			T	151012432	A	T	151012432	3	4	87	1	0	0	0	0	1	0	0	0	6718	275	10	5	478	5	GPR87	3	151012432	Missense_Mutation	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10	13048415	151012432	47009998	15	5777											
SENP5	205564	hgsc.bcm.edu	37	3	196612951	196612952	+	Frame_Shift_Ins	INS	-	-	T	rs148425489		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr3:196612951_196612952insT	ENST00000323460.5	+	2	1148_1149	c.899_900insT	c.(898-903)tcttgtfs	p.C301fs	SENP5_ENST00000445299.2_Frame_Shift_Ins_p.C301fs|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	301					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAAGACCCTTCTTGTCGGCATC	0.53																																					Ovarian(47;891 1095 11174 13858 51271)											0																																										SO:0001589	frameshift_variant	205564			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.901dupT	chr3.hg19:g.196612953_196612953dupT	ENSP00000327197:p.Cys301fs		B4DY82|Q96SA5	Frame_Shift_Ins	INS	ENST00000323460.5	hg19	CCDS3322.1																																																																																				0.53	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		T	196612952	-	T	196612951	7	5	87	1	0	1	1	0	0	0	0	0	14055	913	32	0	901	0	SENP5	3	196612951	Frame_Shift_Ins	INS	-	TCGA-A4-A5Y1-01A-11D-A28G-10	45600519	196612951	1409479	16	5778											
BOD1L	259282	hgsc.bcm.edu	37	4	13602646	13602646	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr4:13602646T>G	ENST00000040738.5	-	10	6013	c.5878A>C	c.(5878-5880)Agt>Cgt	p.S1960R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1960						nucleus (GO:0005634)	DNA binding (GO:0003677)										GAGACTGCACTGGTCACACTG	0.448																																																0													140	135	136					4																	13602646		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5878A>C	chr4.hg19:g.13602646T>G	ENSP00000040738:p.Ser1960Arg		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	hg19	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376793	0.61735	.	.	ENSG00000038219	ENST00000040738	T	0.17691	2.26	5.55	4.35	0.52113	.	0.000000	0.64402	D	0.000002	T	0.13970	0.0338	L	0.34521	1.04	0.39358	D	0.96587	P	0.41673	0.759	B	0.38327	0.271	T	0.03315	-1.1049	10	0.72032	D	0.01	-6.7552	11.456	0.50183	0.0:0.0:0.1507:0.8493	.	1960	Q8NFC6	BOD1L_HUMAN	R	1960	ENSP00000040738:S1960R	ENSP00000040738:S1960R	S	-	1	0	BOD1L	13211744	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	4.808000	0.62583	0.904000	0.36572	0.459000	0.35465	AGT		0.448	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		G	13602646	T	G	13602646	3	3	87	1	0	0	0	0	1	0	0	0	1483	1580	55	5	3345	5	BOD1L	4	13602646	Missense_Mutation	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10		13602646	177551630	17	5779											
PDS5A	23244	hgsc.bcm.edu	37	4	39851206	39851213	+	Frame_Shift_Del	DEL	CTTCATAA	CTTCATAA	-			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	CTTCATAA	CTTCATAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr4:39851206_39851213delCTTCATAA	ENST00000303538.8	-	27	3685_3692	c.3146_3153delTTATGAAG	c.(3145-3153)tttatgaagfs	p.FMK1049fs		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGCCATCTTCTTCATAAAGGCATGGCT	0.38																																																0																																										SO:0001589	frameshift_variant	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3146_3153delTTATGAAG	chr4.hg19:g.39851206_39851213delCTTCATAA	ENSP00000303427:p.Phe1049fs			Frame_Shift_Del	DEL	ENST00000303538.8	hg19	CCDS47045.1																																																																																				0.38	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		-	39851213	CTTCATAA	-	39851206	7	5	87	1	0	1	0	1	0	0	0	0	11693	912	32	0	888	0	PDS5A	4	39851206	Frame_Shift_Del	DEL	CTTCATAA	TCGA-A4-A5Y1-01A-11D-A28G-10	26248560	39851206	151303070	18	5780											
SLC10A4	201780	hgsc.bcm.edu	37	4	48485850	48485850	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr4:48485850C>G	ENST00000273861.4	+	1	491	c.272C>G	c.(271-273)cCc>cGc	p.P91R		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCCTGGGCGCCCCACGCGCTC	0.756																																																0																																										SO:0001583	missense	201780			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.272C>G	chr4.hg19:g.48485850C>G	ENSP00000273861:p.Pro91Arg		Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	hg19	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	c	14.82	2.648971	0.47362	.	.	ENSG00000145248	ENST00000273861	T	0.09255	3.0	4.58	3.74	0.42951	.	0.434744	0.26692	N	0.022981	T	0.08802	0.0218	L	0.40543	1.245	0.19575	N	0.999969	B	0.09022	0.002	B	0.06405	0.002	T	0.21690	-1.0238	10	0.45353	T	0.12	-26.3851	6.3555	0.21398	0.0:0.6733:0.1543:0.1724	.	91	Q96EP9	NTCP4_HUMAN	R	91	ENSP00000273861:P91R	ENSP00000273861:P91R	P	+	2	0	SLC10A4	48180607	0.004000	0.15560	0.599000	0.28851	0.923000	0.55619	1.782000	0.38654	1.159000	0.42565	-0.348000	0.07805	CCC		0.756	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		G	48485850	C	G	48485850	3	3	87	1	0	0	0	0	1	0	0	0	14382	623	22	4	274	4	SLC10A4	4	48485850	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	8634644	48485850	142668426	19	5781											
KIAA1109	84162	hgsc.bcm.edu	37	4	123260393	123260393	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr4:123260393T>A	ENST00000264501.4	+	72	12555	c.12182T>A	c.(12181-12183)gTa>gAa	p.V4061E	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V4061E			Q2LD37	K1109_HUMAN	KIAA1109	4061					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGTTTACCAGTATCAAGAGTA	0.368																																																0													134	120	124					4																	123260393		1830	4088	5918	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12182T>A	chr4.hg19:g.123260393T>A	ENSP00000264501:p.Val4061Glu		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	28.3|28.3|28.3	4.907716|4.907716|4.907716	0.92107|0.92107|0.92107	.|.|.	.|.|.	ENSG00000138688|ENSG00000138688|ENSG00000138688	ENST00000442707|ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802	.|T;T;T|.	.|0.35789|.	.|2.31;2.31;1.29|.	5.81|5.81|5.81	5.81|5.81|5.81	0.92471|0.92471|0.92471	.|.|.	.|0.067355|.	.|0.64402|.	.|D|.	.|0.000010|.	T|T|T	0.68540|0.68540|0.68540	0.3012|0.3012|0.3012	L|L|L	0.49126|0.49126|0.49126	1.545|1.545|1.545	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;P|.	.|0.49961|.	.|0.899;0.93|.	.|P;P|.	.|0.45232|.	.|0.474;0.462|.	T|T|T	0.65853|0.65853|0.65853	-0.6067|-0.6067|-0.6067	5|10|5	.|0.66056|.	.|D|.	.|0.02|.	.|.|.	16.1637|16.1637|16.1637	0.81739|0.81739|0.81739	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|4060;4061|.	.|Q2LD37-4;Q2LD37|.	.|.;K1109_HUMAN|.	R|E|N	6|4061;4061;730|437	.|ENSP00000264501:V4061E;ENSP00000373390:V4061E;ENSP00000410874:V730E|.	.|ENSP00000264501:V4061E|.	S|V|Y	+|+|+	3|2|1	2|0|0	KIAA1109|KIAA1109|KIAA1109	123479843|123479843|123479843	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.963000|7.963000|7.963000	0.87922|0.87922|0.87922	2.216000|2.216000|2.216000	0.71823|0.71823|0.71823	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AGT|GTA|TAT		0.368	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123260393	T	A	123260393	3	1	87	1	0	0	0	0	1	0	0	0	8210	1638	57	5	12460	5	KIAA1109	4	123260393	Missense_Mutation	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10	74774543	123260393	67893883	20	5782											
ODZ3	55714	hgsc.bcm.edu	37	4	183713663	183713663	+	Silent	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr4:183713663C>T	ENST00000511685.1	+	26	5961	c.5838C>T	c.(5836-5838)gtC>gtT	p.V1946V	TENM3_ENST00000406950.2_Silent_p.V1946V			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1946					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTCGGAGGGTCTTATTCAAAT	0.448																																																0													63	63	63					4																	183713663		1880	4104	5984	SO:0001819	synonymous_variant	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5838C>T	chr4.hg19:g.183713663C>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	hg19	CCDS47165.1																																																																																				0.448	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183713663	C	T	183713663	2	4	87	1	0	0	0	0	0	0	0	1	10838	900	32	2		2	ODZ3	4	183713663	Silent	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	60453270	183713663	7440613	21	5783											
NKD2	85409	hgsc.bcm.edu	37	5	1033498	1033498	+	Missense_Mutation	SNP	G	G	A	rs144426465		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:1033498G>A	ENST00000296849.5	+	5	443	c.214G>A	c.(214-216)Gct>Act	p.A72T	NKD2_ENST00000537972.1_Missense_Mutation_p.A72T|NKD2_ENST00000274150.4_Missense_Mutation_p.A72T	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	72	Targeting to the basolateral cell membrane.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GGCACTCCCCGCTGAGAAAGC	0.692																																																0								C	THR/ALA	0,4370		0,0,2185	18	22	20		214	-0.3	0	5	dbSNP_134	20	6,8568		0,6,4281	yes	missense	NKD2	NM_033120.2	58	0,6,6466	AA,AG,GG		0.07,0.0,0.0464	benign	72/452	1033498	6,12938	2185	4287	6472	SO:0001583	missense	85409			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.214G>A	chr5.hg19:g.1033498G>A	ENSP00000296849:p.Ala72Thr		Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	hg19	CCDS3859.1	.	.	.	.	.	.	.	.	.	.	N	10.61	1.399838	0.25291	0.0	7.0E-4	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.00535	6.73;6.73;6.73	3.69	-0.271	0.12922	.	0.159534	0.41396	N	0.000898	T	0.00328	0.0010	N	0.22421	0.69	0.80722	D	1	B;B	0.33022	0.002;0.394	B;B	0.25506	0.002;0.061	T	0.72721	-0.4208	10	0.66056	D	0.02	-8.4045	2.08	0.03633	0.1396:0.4077:0.273:0.1798	.	72;72	Q969F2-2;Q969F2	.;NKD2_HUMAN	T	72	ENSP00000296849:A72T;ENSP00000274150:A72T;ENSP00000440925:A72T	ENSP00000274150:A72T	A	+	1	0	NKD2	1086498	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.116000	0.10724	-0.934000	0.03733	-5.484000	0.00000	GCT		0.692	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		A	1033498	G	A	1033498	3	1	87	1	0	0	0	0	1	0	0	0	10444	1087	38	1	232	1	NKD2	5	1033498	Missense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10		1033498	179881762	22	5784											
DEPDC1B	55789	hgsc.bcm.edu	37	5	59893587	59893587	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:59893587C>T	ENST00000265036.5	-	11	1650	c.1583G>A	c.(1582-1584)cGa>cAa	p.R528Q	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R466Q|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R439Q	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	528					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTATTACATTCGAAAACTTCT	0.418																																																0													174	167	170					5																	59893587		2203	4300	6503	SO:0001583	missense	55789			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1583G>A	chr5.hg19:g.59893587C>T	ENSP00000265036:p.Arg528Gln		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	hg19	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383654	0.95967	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.49432	1.96;1.18;0.78	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.68593	2.085	0.53688	D	0.999979	D;D	0.89917	0.997;1.0	D;D	0.70227	0.968;0.941	T	0.64850	-0.6310	9	.	.	.	-9.0991	19.4868	0.95032	0.0:1.0:0.0:0.0	.	466;528	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	Q	528;466;439	ENSP00000265036:R528Q;ENSP00000389101:R466Q;ENSP00000438320:R439Q	.	R	-	2	0	DEPDC1B	59929344	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.694000	0.74587	2.838000	0.97847	0.591000	0.81541	CGA		0.418	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		T	59893587	C	T	59893587	3	4	87	1	0	0	0	0	1	0	0	0	4442	884	31	1	10	1	DEPDC1B	5	59893587	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	58860089	59893587	121021673	23	5785											
AP3B1	8546	hgsc.bcm.edu	37	5	77521385	77521385	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:77521385A>C	ENST00000255194.6	-	6	759	c.584T>G	c.(583-585)cTt>cGt	p.L195R	AP3B1_ENST00000519295.1_Missense_Mutation_p.L146R	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	195					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATCTTTCAGAAGTTTTTCAAT	0.239									Hermansky-Pudlak syndrome																																							0													55	55	55					5																	77521385		2193	4276	6469	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.584T>G	chr5.hg19:g.77521385A>C	ENSP00000255194:p.Leu195Arg		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	hg19	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678934	0.68042	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.18502	2.21;2.21	5.59	4.44	0.53790	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54431	0.1858	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67023	-0.5775	10	0.87932	D	0	-1.7217	11.3981	0.49854	0.9293:0.0:0.0707:0.0	.	195	O00203	AP3B1_HUMAN	R	195;146;195;99	ENSP00000255194:L195R;ENSP00000430597:L146R	ENSP00000255194:L195R	L	-	2	0	AP3B1	77557141	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.245000	0.95431	0.959000	0.37980	-0.361000	0.07541	CTT		0.239	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			C	77521385	A	C	77521385	3	2	87	1	0	0	0	0	1	0	0	0	744	72	3	5	2788	5	AP3B1	5	77521385	Missense_Mutation	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10	17627798	77521385	103393875	24	5786											
IK	3550	hgsc.bcm.edu	37	5	140037217	140037217	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:140037217C>T	ENST00000417647.2	+	10	1019	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	294					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGGAACCCGTAACAAGAA	0.473																																																0													129	116	120					5																	140037217		1910	4122	6032	SO:0001583	missense	3550			BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.880C>T	chr5.hg19:g.140037217C>T	ENSP00000396301:p.Arg294Cys		Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	hg19	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584507	0.86748	.	.	ENSG00000113141	ENST00000417647	.	.	.	5.48	5.48	0.80851	RED-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.83092	-0.0132	9	0.72032	D	0.01	.	14.198	0.65684	0.1496:0.8504:0.0:0.0	.	294;294	Q9UK43;Q13123	.;RED_HUMAN	C	294	.	ENSP00000396301:R294C	R	+	1	0	IK	140017401	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.692000	0.54727	2.730000	0.93505	0.655000	0.94253	CGT		0.473	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		T	140037217	C	T	140037217	3	4	87	1	0	0	0	0	1	0	0	0	7610	652	23	1	918	1	IK	5	140037217	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	62515832	140037217	40878043	25	5787											
FAM65B	9750	hgsc.bcm.edu	37	6	24836059	24836059	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr6:24836059C>T	ENST00000259698.4	-	16	2318	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	FAM65B_ENST00000538035.1_Missense_Mutation_p.E694K	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	715					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GTGAGCGCTTCACTGAGATGC	0.527																																																0													105	90	94					6																	24836059		692	1591	2283	SO:0001583	missense	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.2143G>A	chr6.hg19:g.24836059C>T	ENSP00000259698:p.Glu715Lys		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	hg19	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966222	0.74131	.	.	ENSG00000111913	ENST00000259698;ENST00000538035	T;T	0.35789	1.29;1.29	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.24084	0.0583	L	0.43152	1.355	0.80722	D	1	B;B	0.31548	0.264;0.328	B;B	0.30495	0.085;0.116	T	0.09640	-1.0665	10	0.66056	D	0.02	-10.1386	19.1916	0.93669	0.0:1.0:0.0:0.0	.	694;715	F5GX51;Q9Y4F9	.;FA65B_HUMAN	K	715;694	ENSP00000259698:E715K;ENSP00000441138:E694K	ENSP00000259698:E715K	E	-	1	0	FAM65B	24944038	1.000000	0.71417	0.595000	0.28798	0.748000	0.42578	7.452000	0.80683	2.541000	0.85698	0.655000	0.94253	GAA		0.527	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			T	24836059	C	T	24836059	3	4	87	1	0	0	0	0	1	0	0	0	5602	835	29	2	1095	2	FAM65B	6	24836059	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10		24836059	146279008	26	5788											
HIST1H1C	3006	hgsc.bcm.edu	37	6	26056096	26056096	+	Silent	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr6:26056096T>C	ENST00000343677.2	-	1	603	c.561A>G	c.(559-561)aaA>aaG	p.K187K		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	187					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TAGCAGCACTTTTGGCAGCTT	0.547																																																0													89	96	93					6																	26056096		2203	4300	6503	SO:0001819	synonymous_variant	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.561A>G	chr6.hg19:g.26056096T>C			A8K4I2	Silent	SNP	ENST00000343677.2	hg19	CCDS4577.1																																																																																				0.547	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		C	26056096	T	C	26056096	2	2	87	1	0	0	0	0	0	0	0	1	7126	1838	64	3		3	HIST1H1C	6	26056096	Silent	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10	1220037	26056096	145058971	27	5789											
SLC26A5	375611	hgsc.bcm.edu	37	7	103050896	103050896	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr7:103050896G>C	ENST00000306312.3	-	7	932	c.671C>G	c.(670-672)tCc>tGc	p.S224C	SLC26A5_ENST00000393729.1_Missense_Mutation_p.S187C|SLC26A5_ENST00000393735.2_Missense_Mutation_p.S224C|SLC26A5_ENST00000432958.2_Missense_Mutation_p.S224C|SLC26A5_ENST00000339444.6_Missense_Mutation_p.S224C|SLC26A5_ENST00000393723.1_Missense_Mutation_p.S224C|SLC26A5_ENST00000393727.1_Missense_Mutation_p.S224C|SLC26A5_ENST00000356767.4_Missense_Mutation_p.S224C|SLC26A5_ENST00000393730.1_Missense_Mutation_p.S224C|SLC26A5_ENST00000354356.4_5'UTR	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	224					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTTTAACATGGAGGTGAAGAC	0.443																																																0													73	71	71					7																	103050896		2203	4300	6503	SO:0001583	missense	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.671C>G	chr7.hg19:g.103050896G>C	ENSP00000304783:p.Ser224Cys		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	hg19	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816614	0.90790	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.72	5.72	0.89469	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97898	0.9309	H	0.95365	3.66	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.998;0.999;0.997;0.999	D;D;D;D;D	0.73380	0.98;0.974;0.967;0.931;0.956	D	0.98561	1.0641	10	0.87932	D	0	.	19.885	0.96909	0.0:0.0:1.0:0.0	.	224;224;224;224;224	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	C	224;224;224;224;224;224;187;224;224	ENSP00000342396:S224C;ENSP00000349210:S224C;ENSP00000377336:S224C;ENSP00000304783:S224C;ENSP00000377331:S224C;ENSP00000389733:S224C;ENSP00000377330:S187C;ENSP00000377328:S224C;ENSP00000377324:S224C	ENSP00000304783:S224C	S	-	2	0	SLC26A5	102838132	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.330000	0.96422	2.708000	0.92522	0.591000	0.81541	TCC		0.443	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		C	103050896	G	C	103050896	3	2	87	1	0	0	0	0	1	0	0	0	14526	1174	41	4	1660	4	SLC26A5	7	103050896	Missense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10		103050896	56087767	28	5790											
STAU2	27067	hgsc.bcm.edu	37	8	74464271	74464271	+	Silent	SNP	A	A	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr8:74464271A>G	ENST00000521451.1	-	8	1222	c.846T>C	c.(844-846)taT>taC	p.Y282Y	STAU2_ENST00000517542.1_Silent_p.Y464Y|STAU2_ENST00000523558.1_Silent_p.Y330Y|STAU2_ENST00000521210.1_Silent_p.Y398Y|STAU2_ENST00000524300.1_Silent_p.Y502Y|STAU2_ENST00000522695.1_Silent_p.Y470Y|STAU2_ENST00000519961.1_Silent_p.Y502Y|STAU2_ENST00000355780.5_Silent_p.Y470Y|STAU2_ENST00000521727.1_Silent_p.Y482Y|STAU2_ENST00000522509.1_Silent_p.Y470Y			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	502					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCCTTGCTAAATATTCCAGTT	0.363																																																0													56	61	59					8																	74464271		2203	4297	6500	SO:0001819	synonymous_variant	27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.846T>C	chr8.hg19:g.74464271A>G			B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Silent	SNP	ENST00000521451.1	hg19																																																																																					0.363	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		G	74464271	A	G	74464271	2	3	87	1	0	0	0	0	0	0	0	1	15278	108	4	3		3	STAU2	8	74464271	Silent	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10		74464271	71899751	29	5791											
PSIP1	11168	hgsc.bcm.edu	37	9	15468982	15468982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr9:15468982delG	ENST00000380733.4	-	13	1522	c.1179delC	c.(1177-1179)cacfs	p.H393fs	PSIP1_ENST00000380738.4_Frame_Shift_Del_p.H393fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	393					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TCATCTCTGTGTGTTTCTGAG	0.328																																																0													89	82	84					9																	15468982		2202	4300	6502	SO:0001589	frameshift_variant	11168			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1179delC	chr9.hg19:g.15468982delG	ENSP00000370109:p.His393fs		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Frame_Shift_Del	DEL	ENST00000380733.4	hg19	CCDS6479.1																																																																																				0.328	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		-	15468982	G	-	15468982	7	5	87	1	0	1	0	1	0	0	0	0	12668	1368	48	0	429	0	PSIP1	9	15468982	Frame_Shift_Del	DEL	G	TCGA-A4-A5Y1-01A-11D-A28G-10		15468982	125744449	30	5792											
OR13F1	138805	hgsc.bcm.edu	37	9	107267461	107267461	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr9:107267461T>G	ENST00000334726.2	+	1	1007	c.918T>G	c.(916-918)atT>atG	p.I306M		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATTGCTGATTAGAAATCATT	0.353																																																0													39	42	41					9																	107267461		2203	4300	6503	SO:0001583	missense	138805				CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.918T>G	chr9.hg19:g.107267461T>G	ENSP00000334452:p.Ile306Met		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	hg19	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	T	2.865	-0.235310	0.05983	.	.	ENSG00000186881	ENST00000334726	T	0.37411	1.2	4.3	-3.06	0.05379	.	0.941008	0.08732	N	0.901923	T	0.15262	0.0368	N	0.10972	0.075	0.09310	N	1	B	0.16166	0.016	B	0.10450	0.005	T	0.20207	-1.0282	10	0.33141	T	0.24	.	3.0534	0.06176	0.1435:0.0881:0.443:0.3254	.	306	Q8NGS4	O13F1_HUMAN	M	306	ENSP00000334452:I306M	ENSP00000334452:I306M	I	+	3	3	OR13F1	106307282	0.000000	0.05858	0.004000	0.12327	0.446000	0.32137	-0.563000	0.05943	-0.521000	0.06426	-0.290000	0.09829	ATT		0.353	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			G	107267461	T	G	107267461	3	3	87	1	0	0	0	0	1	0	0	0	10943	1742	61	5	920	5	OR13F1	9	107267461	Missense_Mutation	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10	91798479	107267461	33945970	31	5793											
SPTAN1	6709	hgsc.bcm.edu	37	9	131379924	131379924	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr9:131379924A>G	ENST00000372731.4	+	41	5458	c.5348A>G	c.(5347-5349)aAg>aGg	p.K1783R	SPTAN1_ENST00000372739.3_Missense_Mutation_p.K1788R|SPTAN1_ENST00000358161.5_Missense_Mutation_p.K1788R	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1783					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTCAGGGAGAAGAAGCTGCTG	0.567																																					NSCLC(120;833 1744 2558 35612 37579)											0													53	54	54					9																	131379924		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5348A>G	chr9.hg19:g.131379924A>G	ENSP00000361816:p.Lys1783Arg		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	hg19	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628279	0.87560	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.56444	0.46;0.46;0.46	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.996;0.998	T	0.71101	-0.4690	10	0.66056	D	0.02	.	15.8191	0.78626	1.0:0.0:0.0:0.0	.	1763;1788;1783	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	R	1788;1783;1788;1763;32	ENSP00000350882:K1788R;ENSP00000361816:K1783R;ENSP00000361824:K1788R	ENSP00000350882:K1788R	K	+	2	0	SPTAN1	130419745	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	8.824000	0.92023	2.202000	0.70862	0.379000	0.24179	AAG		0.567	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		G	131379924	A	G	131379924	3	3	87	1	0	0	0	0	1	0	0	0	15122	72	3	3	5525	3	SPTAN1	9	131379924	Missense_Mutation	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10	24112463	131379924	9833507	32	5794											
EHMT1	79813	hgsc.bcm.edu	37	9	140710514	140710514	+	Splice_Site	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr9:140710514G>A	ENST00000460843.1	+	23	3401	c.3374G>A	c.(3373-3375)aGg>aAg	p.R1125K		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1125					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AATGGTCTCAGGTGAGAGGCA	0.552																																																0													52	45	48					9																	140710514		2203	4300	6503	SO:0001630	splice_region_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3374+1G>A	chr9.hg19:g.140710514G>A			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	hg19	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447711	0.26074	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	D	0.88741	-2.42	5.11	5.11	0.69529	SET domain (1);	0.042517	0.85682	D	0.000000	T	0.73048	0.3537	N	0.04805	-0.155	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.68379	-0.5424	10	0.02654	T	1	.	11.9694	0.53055	0.0798:0.0:0.9202:0.0	.	1125	Q9H9B1	EHMT1_HUMAN	K	1094;1125	ENSP00000417980:R1125K	ENSP00000360453:R1094K	R	+	2	0	EHMT1	139830335	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.876000	0.87215	2.357000	0.79964	0.591000	0.81541	AGG		0.552	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	Missense_Mutation	A	140710514	G	A	140710514	5	1	87	1	0	0	0	0	0	0	1	0	4985	1014	35	2	3513	2	EHMT1	9	140710514	Splice_Site	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	9330590	140710514	502917	33	5795											
CUBN	8029	hgsc.bcm.edu	37	10	17169853	17169853	+	Missense_Mutation	SNP	C	C	A	rs543983858		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr10:17169853C>A	ENST00000377833.4	-	3	388	c.323G>T	c.(322-324)aGt>aTt	p.S108I	CUBN_ENST00000377823.1_Missense_Mutation_p.S108I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	108					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATAGATTTGACTAGATATATT	0.338																																																0													202	199	200					10																	17169853		2202	4300	6502	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.323G>T	chr10.hg19:g.17169853C>A	ENSP00000367064:p.Ser108Ile		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465566	0.43839	.	.	ENSG00000107611	ENST00000377833;ENST00000377823	T;D	0.89939	-1.04;-2.59	5.39	-1.65	0.08291	.	0.658141	0.14204	N	0.334504	T	0.77103	0.4081	N	0.19112	0.55	0.24501	N	0.994254	P	0.41265	0.744	B	0.36030	0.216	T	0.66991	-0.5783	10	0.33940	T	0.23	.	11.3077	0.49345	0.0:0.445:0.0:0.555	.	108	O60494	CUBN_HUMAN	I	108	ENSP00000367064:S108I;ENSP00000367054:S108I	ENSP00000367054:S108I	S	-	2	0	CUBN	17209859	0.964000	0.33143	0.979000	0.43373	0.946000	0.59487	-0.127000	0.10547	-0.237000	0.09739	0.650000	0.86243	AGT		0.338	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	17169853	C	A	17169853	3	1	87	1	0	0	0	0	1	0	0	0	4053	565	20	4	10808	4	CUBN	10	17169853	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10		17169853	118364894	34	5796											
SLC25A28	81894	hgsc.bcm.edu	37	10	101370968	101370968	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr10:101370968T>A	ENST00000370495.4	-	4	761	c.733A>T	c.(733-735)Acc>Tcc	p.T245S	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	245					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		AATTCATAGGTCATGAAGTGA	0.567																																																0													66	69	68					10																	101370968		2005	4172	6177	SO:0001583	missense	81894			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"Solute carriers"	23472	protein-coding gene	gene with protein product	"mitoferrin 2"	609767	"solute carrier family 25, member 28"			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.733A>T	chr10.hg19:g.101370968T>A	ENSP00000359526:p.Thr245Ser		Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	hg19	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.710038	0.68730	.	.	ENSG00000155287	ENST00000434701;ENST00000370495	T;T	0.80123	-1.34;-1.34	5.41	5.41	0.78517	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	L	0.49126	1.545	0.58432	D	0.999999	P	0.42456	0.78	B	0.42138	0.377	T	0.78175	-0.2306	10	0.52906	T	0.07	-32.8904	10.7365	0.46128	0.0:0.0735:0.0:0.9265	.	245	Q96A46	MFRN2_HUMAN	S	106;245	ENSP00000399102:T106S;ENSP00000359526:T245S	ENSP00000359526:T245S	T	-	1	0	SLC25A28	101360958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.678000	0.61641	2.271000	0.75665	0.459000	0.35465	ACC		0.567	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		A	101370968	T	A	101370968	3	1	87	1	0	0	0	0	1	0	0	0	14497	1667	58	5	365	5	SLC25A28	10	101370968	Missense_Mutation	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10	84201115	101370968	34163779	35	5797											
VAX1	11023	hgsc.bcm.edu	37	10	118893699	118893699	+	Silent	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr10:118893699C>T	ENST00000369206.5	-	3	824	c.825G>A	c.(823-825)ctG>ctA	p.L275L	VAX1_ENST00000277905.2_Intron	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	275					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		AGGGCACCGGCAGGCTGAAGA	0.736																																																0													18	20	19					10																	118893699		692	1591	2283	SO:0001819	synonymous_variant	11023			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.825G>A	chr10.hg19:g.118893699C>T			B1AVW5|Q6ZSX0	Silent	SNP	ENST00000369206.5	hg19	CCDS44483.1																																																																																				0.736	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		T	118893699	C	T	118893699	2	4	87	1	0	0	0	0	0	0	0	1	17139	697	25	2		2	VAX1	10	118893699	Silent	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	17522731	118893699	16641048	36	5798											
KCNQ1	3784	hgsc.bcm.edu	37	11	2798240	2798240	+	Silent	SNP	C	C	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr11:2798240C>G	ENST00000155840.5	+	14	1818	c.1710C>G	c.(1708-1710)ccC>ccG	p.P570P	KCNQ1_ENST00000335475.5_Silent_p.P443P	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	570					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTGGGAAGCCCTCACTGTTCA	0.602																																																0			GRCh37	CD057258	KCNQ1	D							249	175	200					11																	2798240		2202	4299	6501	SO:0001819	synonymous_variant	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1710C>G	chr11.hg19:g.2798240C>G			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	hg19	CCDS7736.1																																																																																				0.602	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		G	2798240	C	G	2798240	2	3	87	1	0	0	0	0	0	0	0	1	8084	668	24	4		4	KCNQ1	11	2798240	Silent	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10		2798240	132208276	37	5799											
KCNA4	3739	hgsc.bcm.edu	37	11	30032894	30032894	+	Silent	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr11:30032894T>C	ENST00000328224.6	-	2	2565	c.1332A>G	c.(1330-1332)agA>agG	p.R444R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	444					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GACGAATGATTCTGAGGATGG	0.572																																																0													70	68	69					11																	30032894		2059	4216	6275	SO:0001819	synonymous_variant	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1332A>G	chr11.hg19:g.30032894T>C				Silent	SNP	ENST00000328224.6	hg19	CCDS41629.1																																																																																				0.572	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		C	30032894	T	C	30032894	2	2	87	1	0	0	0	0	0	0	0	1	8007	1780	62	3		3	KCNA4	11	30032894	Silent	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10	27234654	30032894	104973622	38	5800											
TRIM44	54765	hgsc.bcm.edu	37	11	35684955	35684956	+	Frame_Shift_Ins	INS	-	-	T	rs534573468	byFrequency	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr11:35684955_35684956insT	ENST00000299413.5	+	1	603_604	c.296_297insT	c.(295-300)agtgagfs	p.E100fs	RP1-276E15.1_ENST00000525573.2_lincRNA	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	100	Glu-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				ggggaagagagtgagtcggagg	0.589																																																0																																										SO:0001589	frameshift_variant	54765			BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19016	protein-coding gene	gene with protein product		612298	"tripartite motif-containing 44"				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.297dupT	chr11.hg19:g.35684956_35684956dupT	ENSP00000299413:p.Glu100fs		D3DR14|Q96QY2|Q9UGK0	Frame_Shift_Ins	INS	ENST00000299413.5	hg19	CCDS31461.1																																																																																				0.589	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1	NM_017583		T	35684956	-	T	35684955	7	5	87	1	0	1	1	0	0	0	0	0	16524	1029	36	0	298	0	TRIM44	11	35684955	Frame_Shift_Ins	INS	-	TCGA-A4-A5Y1-01A-11D-A28G-10	5652061	35684955	99321561	39	5801											
C12orf39	80763	hgsc.bcm.edu	37	12	21680692	21680692	+	Silent	SNP	G	G	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr12:21680692G>C	ENST00000256969.2	+	4	343	c.177G>C	c.(175-177)cgG>cgC	p.R59R		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		59					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACCAGAGCCGGAGAAAGGACC	0.647																																																0													20	21	21					12																	21680692		2195	4272	6467	SO:0001819	synonymous_variant	80763																														ENST00000256969.2:c.177G>C	chr12.hg19:g.21680692G>C			B3KND6	Silent	SNP	ENST00000256969.2	hg19	CCDS31757.1																																																																																				0.647	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1			C	21680692	G	C	21680692	2	2	87	1	0	0	0	0	0	0	0	1	1686	1161	41	4		4	C12orf39	12	21680692	Silent	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10		21680692	112171203	40	5802											
MLL2	8085	hgsc.bcm.edu	37	12	49436945	49436945	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr12:49436945G>A	ENST00000301067.7	-	25	5557	c.5558C>T	c.(5557-5559)gCa>gTa	p.A1853V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1853					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CACTGGGGATGCCTTCACGCC	0.587																																																0													69	71	71					12																	49436945		2031	4183	6214	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5558C>T	chr12.hg19:g.49436945G>A	ENSP00000301067:p.Ala1853Val		O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980996	0.34942	.	.	ENSG00000167548	ENST00000301067	T	0.79554	-1.28	5.61	4.72	0.59763	.	0.000000	0.36303	N	0.002670	T	0.69504	0.3118	L	0.29908	0.895	0.30174	N	0.801069	B	0.26363	0.147	B	0.19391	0.025	T	0.69472	-0.5136	10	0.87932	D	0	.	10.4356	0.44433	0.0892:0.0:0.9108:0.0	.	1853	O14686	MLL2_HUMAN	V	1853	ENSP00000301067:A1853V	ENSP00000301067:A1853V	A	-	2	0	MLL2	47723212	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.943000	0.49026	1.371000	0.46172	0.655000	0.94253	GCA		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49436945	G	A	49436945	3	1	87	1	0	0	0	0	1	0	0	0	9623	1319	46	2	11175	2	MLL2	12	49436945	Missense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	27756253	49436945	84414950	41	5803											
PABPC3	5042	hgsc.bcm.edu	37	13	25671122	25671122	+	Silent	SNP	C	C	T	rs79072440		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr13:25671122C>T	ENST00000281589.3	+	1	823	c.786C>T	c.(784-786)taC>taT	p.Y262Y		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	262	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AACAAATTTACGTTGGTCGAG	0.408																																																0																																										SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.786C>T	chr13.hg19:g.25671122C>T			Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	hg19	CCDS9311.1																																																																																				0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671122	C	T	25671122	2	4	87	1	0	0	0	0	0	0	0	1	11367	547	19	1		1	PABPC3	13	25671122	Silent	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10		25671122	89498756	42	5804											
MYH7	4625	hgsc.bcm.edu	37	14	23886422	23886422	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr14:23886422C>T	ENST00000355349.3	-	32	4621	c.4459G>A	c.(4459-4461)Gcc>Acc	p.A1487T	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1487					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCATAGGCGTTCTTGAGT	0.597																																																0													118	124	122					14																	23886422		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4459G>A	chr14.hg19:g.23886422C>T	ENSP00000347507:p.Ala1487Thr		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374149	0.82573	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78364	-1.17	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.84000	0.5376	M	0.81942	2.565	0.39473	D	0.967754	P	0.43662	0.814	P	0.50440	0.641	D	0.86199	0.1617	9	0.59425	D	0.04	.	13.987	0.64341	0.1513:0.8487:0.0:0.0	.	1487	P12883	MYH7_HUMAN	T	1487;1492	ENSP00000347507:A1487T	ENSP00000347507:A1487T	A	-	1	0	MYH7	22956262	0.987000	0.35691	0.998000	0.56505	0.982000	0.71751	2.764000	0.47613	2.746000	0.94184	0.591000	0.81541	GCC		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23886422	C	T	23886422	3	4	87	1	0	0	0	0	1	0	0	0	10041	768	27	1	1384	1	MYH7	14	23886422	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10		23886422	83463118	43	5805											
ABHD12B	145447	hgsc.bcm.edu	37	14	51368558	51368558	+	Silent	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr14:51368558C>T	ENST00000337334.2	+	10	807	c.792C>T	c.(790-792)aaC>aaT	p.N264N	ABHD12B_ENST00000353130.1_Silent_p.N187N|ABHD12B_ENST00000395752.1_Silent_p.N157N|PYGL_ENST00000532462.1_Intron	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	264							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					TTTACCGGAACATTCCAGGAT	0.308																																																0													58	54	55					14																	51368558		2202	4297	6499	SO:0001819	synonymous_variant	145447			BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"Abhydrolase domain containing"	19837	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 29"	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.792C>T	chr14.hg19:g.51368558C>T			Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Silent	SNP	ENST00000337334.2	hg19	CCDS55916.1																																																																																				0.308	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			T	51368558	C	T	51368558	2	4	87	1	0	0	0	0	0	0	0	1	77	477	17	2		2	ABHD12B	14	51368558	Silent	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	27482136	51368558	55980982	44	5806											
MPP5	64398	hgsc.bcm.edu	37	14	67787027	67787027	+	Silent	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr14:67787027T>C	ENST00000261681.4	+	12	2111	c.1450T>C	c.(1450-1452)Ttg>Ctg	p.L484L	MPP5_ENST00000555925.1_Silent_p.L450L|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	484	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ACCTATCATCTTGATTGGTCC	0.408																																																0													111	104	107					14																	67787027		2203	4300	6503	SO:0001819	synonymous_variant	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1450T>C	chr14.hg19:g.67787027T>C			A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	ENST00000261681.4	hg19	CCDS9779.1																																																																																				0.408	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		C	67787027	T	C	67787027	2	2	87	1	0	0	0	0	0	0	0	1	9739	1606	56	3		3	MPP5	14	67787027	Silent	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10	16418469	67787027	39562513	45	5807											
YLPM1	56252	hgsc.bcm.edu	37	14	75248111	75248111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr14:75248111G>A	ENST00000552421.1	+	4	1489	c.1365G>A	c.(1363-1365)tgG>tgA	p.W455*	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000325680.7_Nonsense_Mutation_p.W455*			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCAAGAATGGGAGCGAGAGT	0.423																																																0													40	37	38					14																	75248111		1917	4135	6052	SO:0001587	stop_gained	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1365G>A	chr14.hg19:g.75248111G>A	ENSP00000447921:p.Trp455*		P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000552421.1	hg19		.	.	.	.	.	.	.	.	.	.	G	35	5.452918	0.96223	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0557	0.97650	0.0:0.0:1.0:0.0	.	.	.	.	X	455;455;168	.	ENSP00000324463:W455X	W	+	3	0	YLPM1	74317864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.732000	0.93576	0.591000	0.81541	TGG		0.423	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		A	75248111	G	A	75248111	4	1	87	1	0	0	0	0	0	1	0	0	17491	1241	43	2	1379	2	YLPM1	14	75248111	Nonsense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	7461084	75248111	32101429	46	5808											
CATSPERB	79820	hgsc.bcm.edu	37	14	92195753	92195753	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr14:92195753T>C	ENST00000256343.3	-	2	227	c.71A>G	c.(70-72)tAt>tGt	p.Y24C		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	24					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ACCTTTATTATATACTATTCC	0.279																																																0													32	36	35					14																	92195753		2194	4276	6470	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.71A>G	chr14.hg19:g.92195753T>C	ENSP00000256343:p.Tyr24Cys		A0AV51	Missense_Mutation	SNP	ENST00000256343.3	hg19	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.150476	0.37923	.	.	ENSG00000133962	ENST00000256343;ENST00000553329;ENST00000554560;ENST00000556661;ENST00000553676	T	0.56941	0.43	5.22	4.05	0.47172	.	0.528936	0.15705	N	0.248736	T	0.58935	0.2157	L	0.47716	1.5	0.26423	N	0.976068	D	0.65815	0.995	P	0.58873	0.847	T	0.50550	-0.8815	10	0.66056	D	0.02	-4.0069	8.4676	0.32966	0.1734:0.0:0.0:0.8266	.	24	Q9H7T0	CTSRB_HUMAN	C	24	ENSP00000256343:Y24C	ENSP00000256343:Y24C	Y	-	2	0	CATSPERB	91265506	0.928000	0.31464	0.216000	0.23742	0.648000	0.38561	2.017000	0.40981	0.893000	0.36288	0.397000	0.26171	TAT		0.279	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		C	92195753	T	C	92195753	3	2	87	1	0	0	0	0	1	0	0	0	2693	1406	49	3	3383	3	CATSPERB	14	92195753	Missense_Mutation	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10	16947642	92195753	15153787	47	5809											
CASC5	57082	hgsc.bcm.edu	37	15	40913801	40913801	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:40913801A>T	ENST00000346991.5	+	11	1807	c.1417A>T	c.(1417-1419)Aga>Tga	p.R473*	CASC5_ENST00000399668.2_Nonsense_Mutation_p.R447*|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	473	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTCAAATATGAGAGAGGAGAA	0.328																																																0													67	65	65					15																	40913801		1822	4080	5902	SO:0001587	stop_gained	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1417A>T	chr15.hg19:g.40913801A>T	ENSP00000335463:p.Arg473*		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Nonsense_Mutation	SNP	ENST00000346991.5	hg19	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	38	7.205877	0.98136	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	.	.	.	5.94	2.3	0.28687	.	1.023320	0.07757	N	0.949536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4785	0.16710	0.5262:0.2673:0.2064:0.0	.	.	.	.	X	473;447;447	.	ENSP00000260369:R447X	R	+	1	2	CASC5	38701093	0.001000	0.12720	0.969000	0.41365	0.966000	0.64601	0.013000	0.13310	0.490000	0.27771	0.455000	0.32223	AGA		0.328	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		T	40913801	A	T	40913801	4	4	87	1	0	0	0	0	0	1	0	0	2665	296	11	5	1455	5	CASC5	15	40913801	Nonsense_Mutation	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10		40913801	61617591	48	5810											
RNF111	54778	hgsc.bcm.edu	37	15	59344604	59344604	+	Missense_Mutation	SNP	G	G	T	rs137923008	byFrequency	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:59344604G>T	ENST00000557998.1	+	3	1268	c.981G>T	c.(979-981)gaG>gaT	p.E327D	RNF111_ENST00000559209.1_Missense_Mutation_p.E327D|RNF111_ENST00000434298.1_Missense_Mutation_p.E327D|RNF111_ENST00000348370.4_Missense_Mutation_p.E327D|RNF111_ENST00000561186.1_Missense_Mutation_p.E327D	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	327	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GTGAAGTGGAGATTGTAACAG	0.333																																					NSCLC(72;983 1365 10746 34387 47081)											0													119	108	112					15																	59344604		2192	4291	6483	SO:0001583	missense	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.981G>T	chr15.hg19:g.59344604G>T	ENSP00000452732:p.Glu327Asp		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	hg19	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972394	0.34848	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.39997	1.05;1.06	5.6	1.64	0.23874	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.59436	1.845	0.51012	D	0.9999	B;B;B	0.27732	0.187;0.117;0.187	B;B;B	0.29267	0.1;0.046;0.1	T	0.15607	-1.0431	10	0.87932	D	0	-5.7934	6.825	0.23878	0.1993:0.0:0.6759:0.1248	.	327;327;327	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	D	327	ENSP00000288199:E327D;ENSP00000393641:E327D	ENSP00000288199:E327D	E	+	3	2	RNF111	57131896	1.000000	0.71417	0.997000	0.53966	0.284000	0.27059	4.092000	0.57707	0.051000	0.15978	-0.241000	0.12123	GAG		0.333	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		T	59344604	G	T	59344604	3	4	87	1	0	0	0	0	1	0	0	0	13431	933	33	4	987	4	RNF111	15	59344604	Missense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	18430803	59344604	43186788	49	5811											
VPS13C	54832	hgsc.bcm.edu	37	15	62155703	62155703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:62155703C>A	ENST00000261517.5	-	82	10961	c.10888G>T	c.(10888-10890)Gag>Tag	p.E3630*	VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E3587*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CGGTAAGTCTCTCCTTCCAAC	0.353																																																0													156	136	143					15																	62155703		2203	4300	6503	SO:0001587	stop_gained	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10888G>T	chr15.hg19:g.62155703C>A	ENSP00000261517:p.Glu3630*			Nonsense_Mutation	SNP	ENST00000261517.5	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	53	21.012209	0.99936	.	.	ENSG00000129003	ENST00000249837;ENST00000261517	.	.	.	5.68	5.68	0.88126	.	0.055754	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.1554	0.98111	0.0:1.0:0.0:0.0	.	.	.	.	X	3587;3630	.	ENSP00000249837:E3587X	E	-	1	0	VPS13C	59942995	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	6.594000	0.74104	2.838000	0.97847	0.591000	0.81541	GAG		0.353	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		A	62155703	C	A	62155703	4	1	87	1	0	0	0	0	0	1	0	0	17196	922	32	4	389	4	VPS13C	15	62155703	Nonsense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	2811099	62155703	40375689	50	5812											
PIAS1	8554	hgsc.bcm.edu	37	15	68434644	68434644	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:68434644A>G	ENST00000249636.6	+	4	719	c.571A>G	c.(571-573)Aaa>Gaa	p.K191E	PIAS1_ENST00000545237.1_Missense_Mutation_p.K193E	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	191	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TTCTGGGACCAAATGTGACTT	0.353																																																0													55	51	53					15																	68434644		1818	4073	5891	SO:0001583	missense	8554			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.571A>G	chr15.hg19:g.68434644A>G	ENSP00000249636:p.Lys191Glu		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	hg19	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.858688	0.91433	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.36340	1.26;1.26	5.39	5.39	0.77823	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	M	0.73217	2.22	0.80722	D	1	D;B	0.54047	0.964;0.107	D;P	0.65773	0.938;0.475	T	0.62793	-0.6779	10	0.72032	D	0.01	-13.0322	15.4074	0.74890	1.0:0.0:0.0:0.0	.	191;191	C5J4B4;O75925	.;PIAS1_HUMAN	E	191;193	ENSP00000249636:K191E;ENSP00000438574:K193E	ENSP00000249636:K191E	K	+	1	0	PIAS1	66221698	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.883000	0.92426	2.042000	0.60477	0.477000	0.44152	AAA		0.353	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			G	68434644	A	G	68434644	3	3	87	1	0	0	0	0	1	0	0	0	11877	131	5	3	585	3	PIAS1	15	68434644	Missense_Mutation	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10	6278941	68434644	34096748	51	5813											
IL16	3603	hgsc.bcm.edu	37	15	81517938	81517938	+	Silent	SNP	A	A	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:81517938A>G	ENST00000302987.4	+	1	198	c.198A>G	c.(196-198)acA>acG	p.T66T	IL16_ENST00000394660.2_Silent_p.T66T			Q14005	IL16_HUMAN	interleukin 16	66					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCAGACACATCGGAGGCTG	0.552																																																0													65	65	65					15																	81517938		2006	4190	6196	SO:0001819	synonymous_variant	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.198A>G	chr15.hg19:g.81517938A>G			A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	hg19	CCDS42069.1																																																																																				0.552	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		G	81517938	A	G	81517938	2	3	87	1	0	0	0	0	0	0	0	1	7635	204	8	3		3	IL16	15	81517938	Silent	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10	13083294	81517938	21013454	52	5814											
FANCI	55215	hgsc.bcm.edu	37	15	89856164	89856164	+	Silent	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:89856164A>T	ENST00000310775.7	+	35	3767	c.3681A>T	c.(3679-3681)ggA>ggT	p.G1227G	FANCI_ENST00000566615.1_3'UTR|FANCI_ENST00000300027.8_Silent_p.G1167G	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1227					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACTATACGGGAGAGAAAAAGG	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													77	76	76					15																	89856164		2200	4299	6499	SO:0001819	synonymous_variant	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3681A>T	chr15.hg19:g.89856164A>T			A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Silent	SNP	ENST00000310775.7	hg19	CCDS45346.1																																																																																				0.423	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		T	89856164	A	T	89856164	2	4	87	1	0	0	0	0	0	0	0	1	5671	291	11	5		5	FANCI	15	89856164	Silent	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10	8338226	89856164	12675228	53	5815											
FAHD1	81889	hgsc.bcm.edu	37	16	1877593	1877593	+	Silent	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr16:1877593G>T	ENST00000427358.2	+	1	369	c.363G>T	c.(361-363)ctG>ctT	p.L121L	HAGH_ENST00000455446.2_5'Flank|FAHD1_ENST00000382666.4_Silent_p.L121L|HAGH_ENST00000397353.2_5'Flank|HAGH_ENST00000566709.1_5'Flank|HAGH_ENST00000397356.3_5'Flank|FAHD1_ENST00000382668.4_Silent_p.L121L	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	121						cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872)			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						CCTGGACTCTGGCGAAGAGCT	0.642																																																0													38	34	36					16																	1877593		2199	4300	6499	SO:0001819	synonymous_variant	81889			BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185			14169	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 36"	C16orf36		21878618	Standard	NM_001018104		Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000427358.2:c.363G>T	chr16.hg19:g.1877593G>T			B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6	Silent	SNP	ENST00000427358.2	hg19	CCDS10448.1																																																																																				0.642	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250550.2	NM_001018104		T	1877593	G	T	1877593	2	4	87	1	0	0	0	0	0	0	0	1	5374	1335	47	4		4	FAHD1	16	1877593	Silent	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10		1877593	88477160	54	5816											
CMTM4	146223	hgsc.bcm.edu	37	16	66670440	66670440	+	Silent	SNP	T	T	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr16:66670440T>A	ENST00000330687.4	-	2	412	c.231A>T	c.(229-231)gcA>gcT	p.A77A	CMTM4_ENST00000563952.1_Silent_p.A48A|CMTM4_ENST00000394106.2_Silent_p.A77A	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	77	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		ACGGGGAGCATGCCATGATGG	0.443																																																0													117	103	108					16																	66670440		2201	4300	6501	SO:0001819	synonymous_variant	146223			AF479814	CCDS10817.1, CCDS42170.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000183723	ENSG00000183723			19175	protein-coding gene	gene with protein product		607887	"chemokine-like factor super family 4", "chemokine-like factor superfamily 4"	CKLFSF4		12782130	Standard	NM_178818		Approved		uc002epz.3	Q8IZR5	OTTHUMG00000137500	ENST00000330687.4:c.231A>T	chr16.hg19:g.66670440T>A			Q52M40|Q8IZR4|Q8IZV1	Silent	SNP	ENST00000330687.4	hg19	CCDS10817.1																																																																																				0.443	CMTM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268807.1			A	66670440	T	A	66670440	2	1	87	1	0	0	0	0	0	0	0	1	3587	1451	51	5		5	CMTM4	16	66670440	Silent	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10	64792847	66670440	23684313	55	5817											
PRDM7	11105	hgsc.bcm.edu	37	16	90127007	90127007	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr16:90127007A>T	ENST00000449207.2	-	9	994	c.975T>A	c.(973-975)gaT>gaA	p.D325E	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	325	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCTGCTCTTCATCATCCCGGG	0.547																																																0													78	77	77					16																	90127007		1938	4120	6058	SO:0001583	missense	11105			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.975T>A	chr16.hg19:g.90127007A>T	ENSP00000396732:p.Asp325Glu		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	hg19	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.026388	0.00414	.	.	ENSG00000126856	ENST00000449207	T	0.41065	1.01	2.23	-4.45	0.03546	SET domain (2);	.	.	.	.	T	0.10594	0.0259	N	0.01297	-0.9	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.17137	-1.0379	8	.	.	.	-0.9636	1.139	0.01761	0.2061:0.3427:0.2807:0.1705	.	325	Q9NQW5	PRDM7_HUMAN	E	325	ENSP00000396732:D325E	.	D	-	3	2	PRDM7	88654508	0.000000	0.05858	0.092000	0.20876	0.342000	0.28953	-2.198000	0.01239	-1.546000	0.01717	0.397000	0.26171	GAT		0.547	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			T	90127007	A	T	90127007	3	4	87	1	0	0	0	0	1	0	0	0	12466	214	8	5	511	5	PRDM7	16	90127007	Missense_Mutation	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10	23456567	90127007	227746	56	5818											
SHPK	23729	hgsc.bcm.edu	37	17	3514081	3514081	+	Silent	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:3514081G>T	ENST00000225519.3	-	7	1312	c.1210C>A	c.(1210-1212)Cga>Aga	p.R404R	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	404					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		ACAATGCCTCGGCACAGAGCC	0.642																																																0													110	111	111					17																	3514081		2203	4300	6503	SO:0001819	synonymous_variant	23729			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1210C>A	chr17.hg19:g.3514081G>T			B2R640|Q8WUH3	Silent	SNP	ENST00000225519.3	hg19	CCDS11030.1																																																																																				0.642	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			T	3514081	G	T	3514081	2	4	87	1	0	0	0	0	0	0	0	1	14296	1124	39	4		4	SHPK	17	3514081	Silent	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10		3514081	77681129	57	5819											
P2RX1	5023	hgsc.bcm.edu	37	17	3808622	3808622	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:3808622G>C	ENST00000225538.3	-	2	451	c.177C>G	c.(175-177)agC>agG	p.S59R		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	59					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TGATGAGGCCGCTCGAGGTCT	0.627																																																0													56	60	59					17																	3808622		2203	4300	6503	SO:0001583	missense	5023			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.177C>G	chr17.hg19:g.3808622G>C	ENSP00000225538:p.Ser59Arg		Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	hg19	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773763	0.69992	.	.	ENSG00000108405	ENST00000225538	T	0.04551	3.6	5.84	-11.4	0.00090	.	0.368613	0.32671	N	0.005781	T	0.05273	0.0140	L	0.43152	1.355	0.09310	N	1	P	0.37122	0.583	P	0.46299	0.511	T	0.17167	-1.0378	10	0.87932	D	0	-16.9741	10.8476	0.46751	0.5956:0.089:0.3154:0.0	.	59	P51575	P2RX1_HUMAN	R	59	ENSP00000225538:S59R	ENSP00000225538:S59R	S	-	3	2	P2RX1	3755371	0.011000	0.17503	0.000000	0.03702	0.860000	0.49131	-0.937000	0.03942	-2.012000	0.00950	-0.291000	0.09656	AGC		0.627	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		C	3808622	G	C	3808622	3	2	87	1	0	0	0	0	1	0	0	0	11341	1078	38	4	1066	4	P2RX1	17	3808622	Missense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	294541	3808622	77386588	58	5820											
MYO15A	51168	hgsc.bcm.edu	37	17	18023902	18023902	+	Silent	SNP	G	G	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:18023902G>C	ENST00000205890.5	+	2	2126	c.1788G>C	c.(1786-1788)cgG>cgC	p.R596R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	596					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAAGGCCCGGGCGGGCGGCC	0.697																																																0													5	6	6					17																	18023902		1638	3647	5285	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1788G>C	chr17.hg19:g.18023902G>C			B4DFC7	Silent	SNP	ENST00000205890.5	hg19	CCDS42271.1																																																																																				0.697	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		C	18023902	G	C	18023902	2	2	87	1	0	0	0	0	0	0	0	1	10065	1219	43	4		4	MYO15A	17	18023902	Silent	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	14215280	18023902	63171308	59	5821											
TP53I13	90313	hgsc.bcm.edu	37	17	27899239	27899239	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:27899239C>G	ENST00000301057.7	+	6	708	c.593C>G	c.(592-594)tCt>tGt	p.S198C	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	198						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		AGGCAGCCCTCTTCTAGTGGT	0.657																																																0													22	24	24					17																	27899239		1986	4140	6126	SO:0001583	missense	90313			AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.593C>G	chr17.hg19:g.27899239C>G	ENSP00000301057:p.Ser198Cys		Q7L5U3	Missense_Mutation	SNP	ENST00000301057.7	hg19	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816310	0.50527	.	.	ENSG00000167543	ENST00000301057	.	.	.	3.94	1.89	0.25635	.	0.645758	0.14735	N	0.301505	T	0.51550	0.1681	M	0.63428	1.95	0.09310	N	1	D	0.69078	0.997	P	0.60345	0.873	T	0.36939	-0.9727	9	0.87932	D	0	-2.2609	5.6779	0.17759	0.0:0.7387:0.0:0.2613	.	198	Q8NBR0	P5I13_HUMAN	C	198	.	ENSP00000301057:S198C	S	+	2	0	TP53I13	24923365	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-0.070000	0.11523	0.412000	0.25729	0.462000	0.41574	TCT		0.657	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	NM_138349		G	27899239	C	G	27899239	3	3	87	1	0	0	0	0	1	0	0	0	16391	913	32	4	615	4	TP53I13	17	27899239	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	9875337	27899239	53295971	60	5822											
ATAD5	79915	hgsc.bcm.edu	37	17	29220519	29220519	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:29220519A>T	ENST00000321990.4	+	21	5026	c.4648A>T	c.(4648-4650)Aaa>Taa	p.K1550*		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1550					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTTGCTAGGAAACACTCTGA	0.358																																																0													42	50	47					17																	29220519		2201	4297	6498	SO:0001587	stop_gained	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4648A>T	chr17.hg19:g.29220519A>T	ENSP00000313171:p.Lys1550*		Q05DH0|Q69YR6|Q9H9I1	Nonsense_Mutation	SNP	ENST00000321990.4	hg19	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	42	9.739259	0.99252	.	.	ENSG00000176208	ENST00000321990	.	.	.	6.08	5.01	0.66863	.	0.805371	0.11834	N	0.524975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.577	0.04808	0.6185:0.1452:0.0786:0.1577	.	.	.	.	X	1550	.	ENSP00000313171:K1550X	K	+	1	0	ATAD5	26244645	0.002000	0.14202	0.899000	0.35326	0.203000	0.24098	0.236000	0.17967	2.333000	0.79357	0.482000	0.46254	AAA		0.358	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		T	29220519	A	T	29220519	4	4	87	1	0	0	0	0	0	1	0	0	1076	247	9	5	4730	5	ATAD5	17	29220519	Nonsense_Mutation	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10	1321280	29220519	51974691	61	5823											
AZI1	22994	hgsc.bcm.edu	37	17	79166615	79166615	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:79166615A>T	ENST00000269392.4	-	19	2606	c.2359T>A	c.(2359-2361)Tgg>Agg	p.W787R	AZI1_ENST00000450824.2_Missense_Mutation_p.W784R|AZI1_ENST00000374782.3_Intron|AZI1_ENST00000575907.1_Intron	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		787					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			tgcagcgcccactgctcctgc	0.736																																																0													14	17	16					17																	79166615		2089	4202	6291	SO:0001583	missense	22994																														ENST00000269392.4:c.2359T>A	chr17.hg19:g.79166615A>T	ENSP00000269392:p.Trp787Arg		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	hg19		.	.	.	.	.	.	.	.	.	.	A	0.069	-1.206900	0.01568	.	.	ENSG00000141577	ENST00000450824;ENST00000269392	T;T	0.12255	2.7;2.7	3.32	-0.767	0.11016	.	0.637872	0.14277	N	0.329778	T	0.02455	0.0075	N	0.00538	-1.39	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.41805	-0.9488	10	0.09338	T	0.73	-14.4324	3.6545	0.08215	0.1041:0.1576:0.5766:0.1617	.	787;784	Q9UPN4;Q9UPN4-2	AZI1_HUMAN;.	R	784;787	ENSP00000393583:W784R;ENSP00000269392:W787R	ENSP00000269392:W787R	W	-	1	0	AZI1	76781210	0.999000	0.42202	0.980000	0.43619	0.571000	0.35966	0.724000	0.25954	0.039000	0.15632	0.383000	0.25322	TGG		0.736	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			T	79166615	A	T	79166615	3	4	87	1	0	0	0	0	1	0	0	0	1240	159	6	5	924	5	AZI1	17	79166615	Missense_Mutation	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10	49946096	79166615	2028595	62	5824											
FAM38B	63895	hgsc.bcm.edu	37	18	10691260	10691260	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr18:10691260T>A	ENST00000503781.3	-	44	6972	c.6973A>T	c.(6973-6975)Aag>Tag	p.K2325*	PIEZO2_ENST00000302079.6_Nonsense_Mutation_p.K2325*|PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.K180*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.K2350*|PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.K282*	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2325					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TTGTAGCTCTTGGTGAGGAAG	0.493																																																0													128	112	118					18																	10691260		2203	4300	6503	SO:0001587	stop_gained	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6973A>T	chr18.hg19:g.10691260T>A	ENSP00000421377:p.Lys2325*		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Nonsense_Mutation	SNP	ENST00000503781.3	hg19		.	.	.	.	.	.	.	.	.	.	T	43	9.868735	0.99284	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	.	.	.	5.62	5.62	0.85841	.	0.142737	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1189	0.81329	0.0:0.0:0.0:1.0	.	.	.	.	X	282;2325;282;180	.	ENSP00000285141:K180X	K	-	1	0	FAM38B	10681260	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	8.005000	0.88553	2.263000	0.75096	0.533000	0.62120	AAG		0.493	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		A	10691260	T	A	10691260	4	1	87	1	0	0	0	0	0	1	0	0	5557	1821	63	5	1321	5	FAM38B	18	10691260	Nonsense_Mutation	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10		10691260	67385988	63	5825											
RBBP8	5932	hgsc.bcm.edu	37	18	20606136	20606136	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr18:20606136C>G	ENST00000399722.2	+	19	2978	c.2627C>G	c.(2626-2628)cCt>cGt	p.P876R	RBBP8_ENST00000327155.5_Missense_Mutation_p.P876R|RBBP8_ENST00000399725.2_Missense_Mutation_p.L844V|Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000360790.5_Missense_Mutation_p.P881R|RBBP8_ENST00000581687.1_Missense_Mutation_p.P54R	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	876					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.P876L(1)|p.L844F(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GATCCTTGTCCTCGTCCAAAA	0.368								Homologous recombination																																								2	Substitution - Missense(2)	prostate(2)											128	114	119					18																	20606136		2203	4300	6503	SO:0001583	missense	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2627C>G	chr18.hg19:g.20606136C>G	ENSP00000382628:p.Pro876Arg		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	hg19	CCDS11875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.52|11.52	1.661903|1.661903	0.29515|0.29515	.|.	.|.	ENSG00000101773|ENSG00000101773	ENST00000399725;ENST00000399721|ENST00000327155;ENST00000399722;ENST00000360790	T|T;T;T	0.35048|0.30182	1.33|1.54;1.54;1.54	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.429012	.|0.25735	.|N	.|0.028643	T|T	0.24967|0.24967	0.0606|0.0606	N|N	0.14661|0.14661	0.345|0.345	0.30511|0.30511	N|N	0.769444|0.769444	P|D;D	0.42827|0.59767	0.791|0.986;0.986	B|P;P	0.38378|0.48873	0.272|0.593;0.593	T|T	0.07481|0.07481	-1.0770|-1.0770	9|10	0.87932|0.38643	D|T	0|0.18	-7.0083|-7.0083	12.5437|12.5437	0.56186|0.56186	0.2615:0.7385:0.0:0.0|0.2615:0.7385:0.0:0.0	.|.	844|881;876	A6NKN2|E7ETY1;Q99708	.|.;COM1_HUMAN	V|R	844|876;876;881	ENSP00000382630:L844V|ENSP00000323050:P876R;ENSP00000382628:P876R;ENSP00000354024:P881R	ENSP00000382627:L844V|ENSP00000323050:P876R	L|P	+|+	1|2	0|0	RBBP8|RBBP8	18860134|18860134	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	1.895000|1.895000	0.39778|0.39778	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.368	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		G	20606136	C	G	20606136	3	3	87	1	0	0	0	0	1	0	0	0	13111	681	24	4	2697	4	RBBP8	18	20606136	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	9914876	20606136	57471112	64	5826											
PCSK4	148223	hgsc.bcm.edu	37	19	1481811	1481811	+	5'Flank	SNP	G	G	A	rs377189780		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr19:1481811G>A	ENST00000436106.2	-	0	0				C19orf25_ENST00000591027.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA|C19orf25_ENST00000427685.2_5'Flank|C19orf25_ENST00000585675.1_5'Flank|C19orf25_ENST00000586564.1_5'Flank|C19orf25_ENST00000588849.1_5'Flank|C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000588871.1_5'Flank|PCSK4_ENST00000300954.5_Missense_Mutation_p.R739C|C19orf25_ENST00000588427.1_5'Flank			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTGGCACGGGAGAGCCAG	0.672																																																0													21	25	24					19																	1481811		2202	4296	6498	SO:0001631	upstream_gene_variant	54760			AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		chr19.hg19:g.1481811G>A	Exception_encountered		B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	hg19	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	g	8.277	0.814622	0.16607	.	.	ENSG00000115257	ENST00000300954	T	0.70749	-0.51	1.2	-2.4	0.06583	.	.	.	.	.	T	0.46268	0.1384	L	0.36672	1.1	0.09310	N	1	P	0.46457	0.878	B	0.26094	0.066	T	0.30880	-0.9963	9	0.52906	T	0.07	.	4.3765	0.11272	0.0:0.4776:0.2063:0.3161	.	739	Q6UW60	PCSK4_HUMAN	C	739	ENSP00000300954:R739C	ENSP00000300954:R739C	R	-	1	0	PCSK4	1432811	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.167000	0.00575	-2.042000	0.00914	-1.041000	0.02371	CGT		0.672	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		A	1481811	G	A	1481811	1	1	87	0	1	0	0	0	0	0	0	0	11604	1116	39	1		1	PCSK4	19	1481811	5'Flank	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10		1481811	57647172	65	5827											
NRTN	4902	hgsc.bcm.edu	37	19	5827909	5827909	+	Missense_Mutation	SNP	G	G	A	rs375707068		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr19:5827909G>A	ENST00000303212.2	+	2	683	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_004558.3	NP_004549.1	Q99748	NRTN_HUMAN	neurturin	107					axon guidance (GO:0007411)|MAPK cascade (GO:0000165)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|extracellular region (GO:0005576)	receptor binding (GO:0005102)			large_intestine(1)	1						CGGGCTGCGCGAGCTGGAGGT	0.806																																																0								G	LYS/GLU	0,3794		0,0,1897	5	5	5		319	4.3	1	19		5	1,7493		0,1,3746	no	missense	NRTN	NM_004558.3	56	0,1,5643	AA,AG,GG		0.0133,0.0,0.0089	possibly-damaging	107/198	5827909	1,11287	1897	3747	5644	SO:0001583	missense	4902			U78110	CCDS12151.1	19p13.3	2014-01-30				ENSG00000171119		"Endogenous ligands"	8007	protein-coding gene	gene with protein product	"prepro-neurturin"	602018				8945474	Standard	NM_004558		Approved	NTN	uc002mde.3	Q99748		ENST00000303212.2:c.319G>A	chr19.hg19:g.5827909G>A	ENSP00000302648:p.Glu107Lys		B2RPE8	Missense_Mutation	SNP	ENST00000303212.2	hg19	CCDS12151.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650912	0.87958	0.0	1.33E-4	ENSG00000171119	ENST00000303212	D	0.84146	-1.81	4.33	4.33	0.51752	Transforming growth factor-beta, C-terminal (3);	0.128790	0.51477	D	0.000084	D	0.82513	0.5053	L	0.34521	1.04	0.39656	D	0.970533	D	0.63046	0.992	P	0.54856	0.762	T	0.81088	-0.1091	10	0.33940	T	0.23	-8.9466	8.5435	0.33406	0.1094:0.0:0.8906:0.0	.	107	Q99748	NRTN_HUMAN	K	107	ENSP00000302648:E107K	ENSP00000302648:E107K	E	+	1	0	NRTN	5778909	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.082000	0.50128	2.153000	0.67306	0.491000	0.48974	GAG		0.806	NRTN-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451882.2	NM_004558		A	5827909	G	A	5827909	3	1	87	1	0	0	0	0	1	0	0	0	10666	1059	37	1	325	1	NRTN	19	5827909	Missense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	4346098	5827909	53301074	66	5828											
TBCB	1155	hgsc.bcm.edu	37	19	36606539	36606539	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr19:36606539A>T	ENST00000221855.3	+	1	652	c.77A>T	c.(76-78)aAg>aTg	p.K26M	TBCB_ENST00000589996.1_Missense_Mutation_p.K26M|TBCB_ENST00000585746.1_5'Flank|TBCB_ENST00000392178.4_3'UTR|TBCB_ENST00000586868.1_5'Flank|POLR2I_ENST00000221859.4_5'Flank	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	26					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCTCCGAGAAGCGATACAGC	0.662																																																0													34	23	27					19																	36606539		2202	4299	6501	SO:0001583	missense	1155			AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"cytoskeleton-associated protein 1", "cytoskeleton associated protein 1"	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.77A>T	chr19.hg19:g.36606539A>T	ENSP00000221855:p.Lys26Met		O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	ENST00000221855.3	hg19	CCDS12488.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024046	0.75390	.	.	ENSG00000105254	ENST00000221855;ENST00000392178	D	0.92249	-3.0	5.33	4.31	0.51392	.	0.180969	0.47852	D	0.000214	D	0.90964	0.7159	M	0.76002	2.32	0.80722	D	1	P	0.44260	0.83	B	0.42422	0.387	D	0.89084	0.3478	10	0.54805	T	0.06	-27.6416	9.2292	0.37425	0.9131:0.0:0.0869:0.0	.	26	Q99426	TBCB_HUMAN	M	26	ENSP00000221855:K26M	ENSP00000221855:K26M	K	+	2	0	TBCB	41298379	1.000000	0.71417	0.979000	0.43373	0.871000	0.50021	2.209000	0.42806	0.863000	0.35553	0.397000	0.26171	AAG		0.662	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156291.2	NM_001281		T	36606539	A	T	36606539	3	4	87	1	0	0	0	0	1	0	0	0	15635	72	3	5	79	5	TBCB	19	36606539	Missense_Mutation	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10	30778630	36606539	22522444	67	5829											
FBL	2091	hgsc.bcm.edu	37	19	40330915	40330915	+	Silent	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr19:40330915G>A	ENST00000221801.3	-	4	449	c.336C>T	c.(334-336)gtC>gtT	p.V112V	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	112					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		ATTCCCCAGGGACCAGGTTCT	0.577																																																0													103	91	95					19																	40330915		2203	4300	6503	SO:0001819	synonymous_variant	2091			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.336C>T	chr19.hg19:g.40330915G>A			B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	hg19	CCDS12545.1																																																																																				0.577	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		A	40330915	G	A	40330915	2	1	87	1	0	0	0	0	0	0	0	1	5698	1161	41	2		2	FBL	19	40330915	Silent	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	3724376	40330915	18798068	68	5830											
KLK5	25818	hgsc.bcm.edu	37	19	51451945	51451945	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr19:51451945T>G	ENST00000336334.3	-	5	1029	c.677A>C	c.(676-678)gAt>gCt	p.D226A	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.D226A|KLK5_ENST00000593428.1_Missense_Mutation_p.D226A|CTB-147C22.8_ENST00000601506.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CATGGTGTCATCTATCTGTCT	0.507																																																0													170	133	146					19																	51451945		2203	4300	6503	SO:0001583	missense	25818			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.677A>C	chr19.hg19:g.51451945T>G	ENSP00000337733:p.Asp226Ala		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	hg19	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	t	10.10	1.257295	0.22965	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.88201	-2.35;-2.35	4.67	2.49	0.30216	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34386	U	0.004020	T	0.79776	0.4504	N	0.16066	0.365	0.09310	N	1	P	0.40398	0.716	B	0.41036	0.346	T	0.71111	-0.4687	10	0.51188	T	0.08	.	10.2185	0.43184	0.0:0.0:0.5204:0.4796	.	226	Q9Y337	KLK5_HUMAN	A	226	ENSP00000337733:D226A;ENSP00000375685:D226A	ENSP00000337733:D226A	D	-	2	0	KLK5	56143757	1.000000	0.71417	0.006000	0.13384	0.020000	0.10135	5.146000	0.64845	0.262000	0.21774	-0.316000	0.08728	GAT		0.507	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		G	51451945	T	G	51451945	3	3	87	1	0	0	0	0	1	0	0	0	8409	1435	50	5	212	5	KLK5	19	51451945	Missense_Mutation	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10	11121030	51451945	7677038	69	5831											
ZNF814	730051	hgsc.bcm.edu	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																																0													15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	chr19.hg19:g.58385793C>T	ENSP00000410545:p.Arg322Lys		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	87	1	0	0	0	0	1	0	0	0	18181	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	6933848	58385793	743190	70	5832											
PCSK2	5126	hgsc.bcm.edu	37	20	17417493	17417493	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr20:17417493C>T	ENST00000262545.2	+	8	1165	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F	PCSK2_ENST00000536609.1_Missense_Mutation_p.L249F|PCSK2_ENST00000377899.1_Missense_Mutation_p.L265F	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	284	Peptidase S8.			EL -> DV (in Ref. 1; AAA60032). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCCCCGGGAGCTCACGCTGCA	0.642																																																0													34	32	33					20																	17417493		2203	4300	6503	SO:0001583	missense	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.850C>T	chr20.hg19:g.17417493C>T	ENSP00000262545:p.Leu284Phe		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	hg19	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421696	0.83559	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87887	-2.31;-2.31;-2.31	5.38	5.38	0.77491	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.92192	0.7524	M	0.79693	2.465	0.80722	D	1	B;D	0.53745	0.24;0.962	B;P	0.55391	0.146;0.775	D	0.92722	0.6192	10	0.56958	D	0.05	-19.6799	17.6879	0.88261	0.0:1.0:0.0:0.0	.	249;284	B4DFQ3;P16519	.;NEC2_HUMAN	F	265;284;249	ENSP00000367131:L265F;ENSP00000262545:L284F;ENSP00000437458:L249F	ENSP00000262545:L284F	L	+	1	0	PCSK2	17365493	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.647000	0.61418	2.519000	0.84933	0.655000	0.94253	CTC		0.642	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17417493	C	T	17417493	3	4	87	1	0	0	0	0	1	0	0	0	11603	797	28	2	880	2	PCSK2	20	17417493	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10		17417493	45608027	71	5833											
C20orf114	92747	hgsc.bcm.edu	37	20	31892698	31892698	+	Splice_Site	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr20:31892698G>A	ENST00000253354.1	+	13	1415		c.e13+1		BPIFB1_ENST00000464032.1_Splice_Site	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1						innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CTGGTTCCAAGTAAGTGTTAA	0.532																																																0													104	86	92					20																	31892698		2203	4300	6503	SO:0001630	splice_region_variant	92747			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.1254+1G>A	chr20.hg19:g.31892698G>A			A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Splice_Site	SNP	ENST00000253354.1	hg19	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043780	0.36085	.	.	ENSG00000125999	ENST00000253354	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.217	0.65800	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFB1	31356359	0.999000	0.42202	0.998000	0.56505	0.266000	0.26442	4.225000	0.58600	2.740000	0.93945	0.561000	0.74099	.		0.532	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197	Intron	A	31892698	G	A	31892698	5	1	87	1	0	0	0	0	0	0	1	0	2084	1043	36	2	1301	2	C20orf114	20	31892698	Splice_Site	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10	14475205	31892698	31132822	72	5834											
MYT1	4661	hgsc.bcm.edu	37	20	62859303	62859303	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr20:62859303A>T	ENST00000328439.1	+	18	3018	c.2654A>T	c.(2653-2655)aAg>aTg	p.K885M	MYT1_ENST00000536311.1_Missense_Mutation_p.K912M|MYT1_ENST00000360149.4_Missense_Mutation_p.K564M	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGGACGACAAGGAGGACCCC	0.483																																					GBM(59;481 1041 20555 21139 33705)											0													89	88	88					20																	62859303		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2654A>T	chr20.hg19:g.62859303A>T	ENSP00000327465:p.Lys885Met		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279871	0.59758	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.54071	0.59;0.65;0.61	5.67	4.58	0.56647	.	0.115126	0.64402	D	0.000018	T	0.69251	0.3090	M	0.78637	2.42	0.53688	D	0.999978	D;D;D	0.67145	0.996;0.993;0.986	D;P;P	0.64144	0.922;0.886;0.621	T	0.72272	-0.4342	10	0.72032	D	0.01	-30.9363	11.5655	0.50802	0.9301:0.0:0.0699:0.0	.	912;885;564	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	M	564;885;912	ENSP00000353269:K564M;ENSP00000327465:K885M;ENSP00000442412:K912M	ENSP00000327465:K885M	K	+	2	0	MYT1	62329747	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.166000	0.71896	0.990000	0.38787	0.533000	0.62120	AAG		0.483	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		T	62859303	A	T	62859303	3	4	87	1	0	0	0	0	1	0	0	0	10108	72	3	5	2716	5	MYT1	20	62859303	Missense_Mutation	SNP	A	TCGA-A4-A5Y1-01A-11D-A28G-10	30966605	62859303	166217	73	5835											
ZNF280A	129025	hgsc.bcm.edu	37	22	22869192	22869192	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr22:22869192T>C	ENST00000302097.3	-	2	1015	c.763A>G	c.(763-765)Att>Gtt	p.I255V	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGACTTGAAATGTCTGTCATT	0.413																																																0													126	115	119					22																	22869192		2203	4300	6503	SO:0001583	missense	129025			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.763A>G	chr22.hg19:g.22869192T>C	ENSP00000302855:p.Ile255Val			Missense_Mutation	SNP	ENST00000302097.3	hg19	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	T	2.685	-0.274412	0.05679	.	.	ENSG00000169548	ENST00000302097	T	0.01126	5.3	3.66	1.52	0.23074	.	.	.	.	.	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48163	-0.9059	9	0.20519	T	0.43	-0.1797	4.2473	0.10677	0.5866:0.2055:0.0:0.2079	.	255	P59817	Z280A_HUMAN	V	255	ENSP00000302855:I255V	ENSP00000302855:I255V	I	-	1	0	ZNF280A	21199192	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.195000	0.17155	0.264000	0.21851	-1.173000	0.01734	ATT		0.413	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		C	22869192	T	C	22869192	3	2	87	1	0	0	0	0	1	0	0	0	17819	1464	51	3	869	3	ZNF280A	22	22869192	Missense_Mutation	SNP	T	TCGA-A4-A5Y1-01A-11D-A28G-10		22869192	28435374	74	5836											
CSF2RA	1438	hgsc.bcm.edu	37	X	1407702	1407702	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chrX:1407702G>T	ENST00000381524.3	+	6	580	c.394G>T	c.(394-396)Gat>Tat	p.D132Y	CSF2RA_ENST00000417535.2_Missense_Mutation_p.D132Y|CSF2RA_ENST00000432318.2_Missense_Mutation_p.D132Y|CSF2RA_ENST00000381529.3_Missense_Mutation_p.D132Y|CSF2RA_ENST00000381509.3_Missense_Mutation_p.D132Y|CSF2RA_ENST00000355805.2_Missense_Mutation_p.D132Y|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.D132Y|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000361536.3_Missense_Mutation_p.D132Y|CSF2RA_ENST00000381500.1_Missense_Mutation_p.D132Y			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	132					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTACAATGCGGATTTAATGAA	0.468																																					Esophageal Squamous(131;723 1707 25334 40494 41806)											0													173	182	179					X																	1407702		2203	4296	6499	SO:0001583	missense	1438			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.394G>T	chrX.hg19:g.1407702G>T	ENSP00000370935:p.Asp132Tyr		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	hg19	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	3.532	-0.095615	0.07010	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;T;D;T;T;D;T;T;D;T	0.96104	-3.91;-3.91;0.5;-3.91;0.5;0.5;-3.91;0.5;0.5;-3.91;0.5	2.02	-0.156	0.13391	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.244990	0.06574	U	0.749174	D	0.95896	0.8664	.	.	.	0.18873	N	0.999989	P;P;P;D;B;P	0.57899	0.488;0.483;0.685;0.981;0.428;0.483	B;B;B;P;B;B	0.60012	0.092;0.239;0.269;0.867;0.154;0.157	D	0.86489	0.1796	9	0.66056	D	0.02	.	3.1267	0.06409	0.1944:0.2787:0.5269:0.0	.	132;132;132;132;132;132	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	Y	132	ENSP00000370940:D132Y;ENSP00000416437:D132Y;ENSP00000354836:D132Y;ENSP00000370935:D132Y;ENSP00000410667:D132Y;ENSP00000397452:D132Y;ENSP00000370920:D132Y;ENSP00000348058:D132Y;ENSP00000347606:D132Y;ENSP00000394227:D132Y;ENSP00000370911:D132Y	ENSP00000347606:D132Y	D	+	1	0	CSF2RA	1367702	0.006000	0.16342	0.001000	0.08648	0.041000	0.13682	-0.778000	0.04664	-0.259000	0.09432	0.280000	0.19369	GAT		0.468	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			T	1407702	G	T	1407702	3	4	87	1	0	0	0	0	1	0	0	0	3936	1174	41	4	408	4	CSF2RA	23	1407702	Missense_Mutation	SNP	G	TCGA-A4-A5Y1-01A-11D-A28G-10		1407702	153862858	75	5837											
NAA10	8260	hgsc.bcm.edu	37	X	153198018	153198018	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chrX:153198018C>T	ENST00000464845.1	-	4	517	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	NAA10_ENST00000393712.3_Missense_Mutation_p.V67M|NAA10_ENST00000370009.1_Missense_Mutation_p.V67M|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000370015.4_Missense_Mutation_p.V67M	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	67	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						CCATGGGGCACATCATCTGGG	0.587																																					Ovarian(94;1099 1433 38814 45882 51063)											0													68	49	55					X																	153198018		2202	4297	6499	SO:0001583	missense	8260			BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"N(alpha)-acetyltransferase subunits"	18704	protein-coding gene	gene with protein product		300013	"ARD1 homolog, N-acetyltransferase (S. cerevisiae)", "ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.199G>A	chrX.hg19:g.153198018C>T	ENSP00000417763:p.Val67Met		A6NM98	Missense_Mutation	SNP	ENST00000464845.1	hg19	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811472	0.50527	.	.	ENSG00000102030	ENST00000464845;ENST00000370015;ENST00000393712;ENST00000370009;ENST00000545734;ENST00000370011;ENST00000432089	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.04	3.25	0.37280	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	L	0.47016	1.485	0.54753	D	0.999981	B;P;P	0.44195	0.251;0.454;0.828	B;P;P	0.53954	0.375;0.738;0.738	T	0.08330	-1.0727	10	0.46703	T	0.11	-18.5174	9.0852	0.36577	0.0:0.8122:0.0:0.1878	.	67;67;67	B7Z9N2;A6NM98;P41227	.;.;NAA10_HUMAN	M	67;67;67;67;67;61;61	ENSP00000417763:V67M;ENSP00000359032:V67M;ENSP00000377315:V67M;ENSP00000359026:V67M;ENSP00000359028:V61M;ENSP00000413668:V61M	ENSP00000359026:V67M	V	-	1	0	NAA10	152851212	1.000000	0.71417	0.899000	0.35326	0.948000	0.59901	4.628000	0.61282	0.909000	0.36697	0.525000	0.51046	GTG		0.587	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		T	153198018	C	T	153198018	3	4	87	1	0	0	0	0	1	0	0	0	10118	478	17	2	528	2	NAA10	23	153198018	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	151790316	153198018	2072542	76	5838											
PLXNA3	55558	hgsc.bcm.edu	37	X	153700940	153700940	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chrX:153700940C>T	ENST00000369682.3	+	33	5703	c.5528C>T	c.(5527-5529)aCg>aTg	p.T1843M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1843					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGATTCTCACGGCTCTGGAC	0.607																																																0													122	101	108					X																	153700940		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5528C>T	chrX.hg19:g.153700940C>T	ENSP00000358696:p.Thr1843Met		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	hg19	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807947	0.31961	.	.	ENSG00000130827	ENST00000369682	T	0.01015	5.44	5.32	0.143	0.14820	.	0.182827	0.46758	D	0.000265	T	0.01029	0.0034	L	0.52011	1.625	0.44295	D	0.997164	B	0.19583	0.037	B	0.14578	0.011	T	0.58880	-0.7558	10	0.46703	T	0.11	.	5.7954	0.18383	0.1253:0.3656:0.4303:0.0788	.	1843	P51805	PLXA3_HUMAN	M	1843	ENSP00000358696:T1843M	ENSP00000358696:T1843M	T	+	2	0	PLXNA3	153354134	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	0.251000	0.18257	-0.517000	0.06461	-0.191000	0.12829	ACG		0.607	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		T	153700940	C	T	153700940	3	4	87	1	0	0	0	0	1	0	0	0	12123	536	19	1	5654	1	PLXNA3	23	153700940	Missense_Mutation	SNP	C	TCGA-A4-A5Y1-01A-11D-A28G-10	502922	153700940	1569620	77	5839											
AGRN	375790	hgsc.bcm.edu	37	1	987003	987003	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:987003C>A	ENST00000379370.2	+	32	5591	c.5541C>A	c.(5539-5541)ttC>ttA	p.F1847L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1851	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGGGGGATTCTCAGGACCGC	0.711																																																0													24	25	25					1																	987003		2199	4296	6495	SO:0001583	missense	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5541C>A	chr1.hg19:g.987003C>A	ENSP00000368678:p.Phe1847Leu		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	hg19	CCDS30551.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.64|15.64	2.893312|2.893312	0.52121|0.52121	.|.	.|.	ENSG00000188157|ENSG00000188157	ENST00000379370;ENST00000379364|ENST00000419249	D|.	0.94000|.	-3.33|.	4.96|4.96	4.05|4.05	0.47172|0.47172	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.75177|0.75177	0.3814|0.3814	M|M	0.83118|0.83118	2.625|2.625	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.61080|.	0.989|.	P|.	0.62298|.	0.9|.	T|T	0.76782|0.76782	-0.2832|-0.2832	10|5	0.48119|.	T|.	0.1|.	-27.1498|-27.1498	12.382|12.382	0.55311|0.55311	0.0:0.9177:0.0:0.0823|0.0:0.9177:0.0:0.0823	.|.	1847|.	O00468|.	AGRIN_HUMAN|.	L|I	1847;190|150	ENSP00000368678:F1847L|.	ENSP00000368671:F190L|.	F|L	+|+	3|1	2|0	AGRN|AGRN	976866|976866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.032000|0.032000	0.12392|0.12392	2.087000|2.087000	0.41653|0.41653	1.112000|1.112000	0.41740|0.41740	0.555000|0.555000	0.69702|0.69702	TTC|CTC		0.711	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		A	987003	C	A	987003	3	1	88	1	0	0	0	0	1	0	0	0	397	912	32	4	5667	4	AGRN	1	987003	Missense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10		987003	248263618	1	5840											
KLHL21	9903	hgsc.bcm.edu	37	1	6659179	6659179	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:6659179T>C	ENST00000377658.4	-	2	1406	c.1355A>G	c.(1354-1356)gAc>gGc	p.D452G	KLHL21_ENST00000463043.1_Missense_Mutation_p.D85G|KLHL21_ENST00000467612.1_Missense_Mutation_p.D85G|KLHL21_ENST00000377663.3_Missense_Mutation_p.D452G	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	452					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CTGGCCGCAGTCCACCAGCGA	0.642																																																0													47	45	46					1																	6659179		2203	4300	6503	SO:0001583	missense	9903			AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"Kelch-like", "BTB/POZ domain containing"	29041	protein-coding gene	gene with protein product			"kelch-like 21 (Drosophila)"				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1355A>G	chr1.hg19:g.6659179T>C	ENSP00000366886:p.Asp452Gly		B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Missense_Mutation	SNP	ENST00000377658.4	hg19	CCDS30575.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.269130	0.40095	.	.	ENSG00000162413	ENST00000377658;ENST00000377663	T;T	0.74209	-0.72;-0.82	5.14	3.99	0.46301	Galactose oxidase, beta-propeller (1);	0.179251	0.64402	D	0.000019	T	0.54013	0.1832	N	0.08118	0	0.31114	N	0.70964	B;B	0.28933	0.02;0.228	B;B	0.30855	0.007;0.121	T	0.55036	-0.8203	10	0.27082	T	0.32	.	11.6365	0.51207	0.0:0.0:0.1489:0.851	.	452;452	Q9UJP4;Q9UJP4-2	KLH21_HUMAN;.	G	452	ENSP00000366886:D452G;ENSP00000366891:D452G	ENSP00000366886:D452G	D	-	2	0	KLHL21	6581766	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.336000	0.52113	0.877000	0.35895	0.533000	0.62120	GAC		0.642	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004188.1	NM_014851		C	6659179	T	C	6659179	3	2	88	1	0	0	0	0	1	0	0	0	8378	1667	58	3	450	3	KLHL21	1	6659179	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	5672176	6659179	242591442	2	5841											
INPP5B	3633	hgsc.bcm.edu	37	1	38343988	38343988	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:38343988A>G	ENST00000373026.1	-	15	1789	c.1789T>C	c.(1789-1791)Tgc>Cgc	p.C597R	INPP5B_ENST00000373023.2_Missense_Mutation_p.C597R|INPP5B_ENST00000373024.3_Missense_Mutation_p.C517R|INPP5B_ENST00000373027.1_Missense_Mutation_p.C353R|INPP5B_ENST00000458109.2_3'UTR			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	597	5-phosphatase. {ECO:0000250}.|Substrate binding.			GSDDWDTSEKCRAPAWCDRI -> RALTTGIPVRSAVLLPG VIGF (in Ref. 5; AA sequence). {ECO:0000305}.	in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAGCACGGCACTTCTCACTG	0.547																																																0													66	67	67					1																	38343988		2087	4203	6290	SO:0001583	missense	3633			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1789T>C	chr1.hg19:g.38343988A>G	ENSP00000362117:p.Cys597Arg		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	hg19		.	.	.	.	.	.	.	.	.	.	A	19.27	3.796203	0.70567	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.43	5.43	0.79202	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.83473	0.5262	L	0.33624	1.015	0.80722	D	1	D;P	0.89917	1.0;0.861	D;B	0.68765	0.96;0.31	T	0.82133	-0.0608	10	0.30854	T	0.27	.	15.4883	0.75584	1.0:0.0:0.0:0.0	.	597;517	P32019;P32019-2	I5P2_HUMAN;.	R	353;597;597;597;517	ENSP00000362118:C353R;ENSP00000362114:C597R;ENSP00000362117:C597R;ENSP00000362115:C517R	ENSP00000362114:C597R	C	-	1	0	INPP5B	38116575	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.855000	0.92236	2.078000	0.62432	0.460000	0.39030	TGC		0.547	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		G	38343988	A	G	38343988	3	3	88	1	0	0	0	0	1	0	0	0	7757	159	6	3	1228	3	INPP5B	1	38343988	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	31684809	38343988	210906633	3	5842											
ACOT11	26027	hgsc.bcm.edu	37	1	55059680	55059687	+	Frame_Shift_Del	DEL	GCCACCTT	GCCACCTT	-	rs35306628|rs370568235		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	GCCACCTT	GCCACCTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:55059680_55059687delGCCACCTT	ENST00000371316.3	+	5	521_528	c.439_446delGCCACCTT	c.(439-447)gccaccttcfs	p.ATF147fs	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Frame_Shift_Del_p.ATF147fs	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	147	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CAAGGCCTTGGCCACCTTCGTGGCCCGC	0.625																																					Ovarian(148;1440 1861 22015 32453 51933)											0																																										SO:0001589	frameshift_variant	26027			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.439_446delGCCACCTT	chr1.hg19:g.55059680_55059687delGCCACCTT	ENSP00000360366:p.Ala147fs		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Frame_Shift_Del	DEL	ENST00000371316.3	hg19	CCDS592.1																																																																																				0.625	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		-	55059687	GCCACCTT	-	55059680	7	5	88	1	0	1	0	1	0	0	0	0	149	1203	42	0	457	0	ACOT11	1	55059680	Frame_Shift_Del	DEL	GCCACCTT	TCGA-A4-A6HP-01A-11D-A31X-10	16715692	55059680	194190941	4	5843											
PTGFR	5737	hgsc.bcm.edu	37	1	78959108	78959108	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:78959108T>C	ENST00000370757.3	+	2	917	c.680T>C	c.(679-681)cTt>cCt	p.L227P	PTGFR_ENST00000370756.3_Missense_Mutation_p.L227P|PTGFR_ENST00000370758.1_Missense_Mutation_p.L227P	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	227					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GGAATTACACTTTTAAGAGTT	0.383																																																0													58	60	59					1																	78959108		2203	4300	6503	SO:0001583	missense	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.680T>C	chr1.hg19:g.78959108T>C	ENSP00000359793:p.Leu227Pro		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	hg19	CCDS686.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901960	0.72754	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.52754	0.65;0.65;0.65	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.68685	-0.5343	10	0.87932	D	0	-21.0338	16.5479	0.84454	0.0:0.0:0.0:1.0	.	227;227	P43088;P43088-2	PF2R_HUMAN;.	P	227	ENSP00000359794:L227P;ENSP00000359793:L227P;ENSP00000359792:L227P	ENSP00000359792:L227P	L	+	2	0	PTGFR	78731696	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	CTT		0.383	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		C	78959108	T	C	78959108	3	2	88	1	0	0	0	0	1	0	0	0	12755	1609	56	3	682	3	PTGFR	1	78959108	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	23899428	78959108	170291513	5	5844	58	2									
PTGFR	5737	hgsc.bcm.edu	37	1	78959111	78959111	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:78959111T>C	ENST00000370757.3	+	2	920	c.683T>C	c.(682-684)tTa>tCa	p.L228S	PTGFR_ENST00000370756.3_Missense_Mutation_p.L228S|PTGFR_ENST00000370758.1_Missense_Mutation_p.L228S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	228					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	ATTACACTTTTAAGAGTTAAA	0.388																																																0													57	59	58					1																	78959111		2203	4300	6503	SO:0001583	missense	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.683T>C	chr1.hg19:g.78959111T>C	ENSP00000359793:p.Leu228Ser		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	hg19	CCDS686.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020614	0.75275	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.39997	1.05;1.05;1.05	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.074264	0.56097	D	0.000033	T	0.50514	0.1620	L	0.52573	1.65	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.45731	-0.9241	10	0.40728	T	0.16	-5.6031	16.5479	0.84454	0.0:0.0:0.0:1.0	.	228;228	P43088;P43088-2	PF2R_HUMAN;.	S	228	ENSP00000359794:L228S;ENSP00000359793:L228S;ENSP00000359792:L228S	ENSP00000359792:L228S	L	+	2	0	PTGFR	78731699	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.643000	0.83403	2.371000	0.80710	0.533000	0.62120	TTA		0.388	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		C	78959111	T	C	78959111	3	2	88	1	0	0	0	0	1	0	0	0	12755	1764	61	3	685	3	PTGFR	1	78959111	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	3	78959111	170291510	6	5845	58	2									
SLC6A17	388662	hgsc.bcm.edu	37	1	110740214	110740214	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:110740214A>G	ENST00000331565.4	+	11	2293	c.1808A>G	c.(1807-1809)aAg>aGg	p.K603R		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	603					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCCTGGATCAAGGAGGAGGTG	0.582											OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													24	27	26					1																	110740214		2203	4300	6503	SO:0001583	missense	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1808A>G	chr1.hg19:g.110740214A>G	ENSP00000330199:p.Lys603Arg	1429	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	hg19	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.673675	0.29693	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74315	-0.83	5.03	2.63	0.31362	.	0.288442	0.37669	N	0.001989	T	0.23727	0.0574	N	0.04508	-0.205	0.26690	N	0.971361	B	0.02656	0.0	B	0.09377	0.004	T	0.29941	-0.9995	10	0.15066	T	0.55	.	7.503	0.27528	0.6046:0.0:0.3954:0.0	.	603	Q9H1V8	S6A17_HUMAN	R	603	ENSP00000330199:K603R	ENSP00000330199:K603R	K	+	2	0	SLC6A17	110541737	0.080000	0.21391	0.999000	0.59377	0.978000	0.69477	1.878000	0.39608	0.235000	0.21160	0.455000	0.32223	AAG		0.582	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		G	110740214	A	G	110740214	3	3	88	1	0	0	0	0	1	0	0	0	14686	72	3	3	1846	3	SLC6A17	1	110740214	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	31781103	110740214	138510407	7	5846											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144874782	144874782	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:144874782C>T	ENST00000369354.3	-	30	5015	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1745N|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1609N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1565N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1745N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1609	NBPF. {ECO:0000255|PROSITE- ProRule:PRU00647}.				cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAAAGAGGTGCTGCTGGGAGA	0.537			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													253	241	245					1																	144874782		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4826G>A	chr1.hg19:g.144874782C>T	ENSP00000358360:p.Ser1609Asn		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058459	0.76074	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01767	4.65;4.76;4.76;4.73;4.78	5.91	2.8	0.32819	DUF1220 (2);	.	.	.	.	T	0.01558	0.0050	L	0.61218	1.895	0.80722	D	1	P;P	0.40970	0.634;0.734	B;B	0.43575	0.3;0.424	T	0.57046	-0.7878	9	0.56958	D	0.05	.	10.7557	0.46234	0.1347:0.622:0.2433:0.0	.	1565;1609	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	N	1565;1609;1609;1745;1745	ENSP00000327209:S1565N;ENSP00000358360:S1609N;ENSP00000358363:S1609N;ENSP00000435654:S1745N;ENSP00000358366:S1745N	ENSP00000327209:S1565N	S	-	2	0	PDE4DIP	143586139	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.387000	0.59626	0.794000	0.33899	0.650000	0.86243	AGC		0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144874782	C	T	144874782	3	4	88	1	0	0	0	0	1	0	0	0	11645	797	28	2	2274	2	PDE4DIP	1	144874782	Missense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	34134568	144874782	104375839	8	5847											
CELF3	11189	hgsc.bcm.edu	37	1	151678722	151678722	+	Silent	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:151678722T>C	ENST00000290583.4	-	10	1897	c.1104A>G	c.(1102-1104)caA>caG	p.Q368Q	CELF3_ENST00000290585.4_Silent_p.Q318Q|CELF3_ENST00000392706.3_Silent_p.Q163Q|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	368	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgctgttgctgctgct	0.657																																																0													19	20	20					1																	151678722		2200	4297	6497	SO:0001819	synonymous_variant	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1104A>G	chr1.hg19:g.151678722T>C			B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	hg19	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	4.938	0.174339	0.09391	.	.	ENSG00000159409	ENST00000420342	.	.	.	3.25	1.39	0.22231	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19943	-1.0290	4	.	.	.	-0.0118	5.4728	0.16680	0.0:0.7409:0.0:0.2591	.	.	.	.	S	369	.	.	N	-	2	0	CELF3	149945346	0.076000	0.21285	1.000000	0.80357	0.644000	0.38419	-0.812000	0.04496	0.416000	0.25844	-0.389000	0.06534	AAC		0.657	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		C	151678722	T	C	151678722	2	2	88	1	0	0	0	0	0	0	0	1	3219	1722	60	3		3	CELF3	1	151678722	Silent	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	6803940	151678722	97571899	9	5848											
RNPEP	6051	hgsc.bcm.edu	37	1	201958580	201958590	+	Frame_Shift_Del	DEL	TTCCAGATGTG	TTCCAGATGTG	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	TTCCAGATGTG	TTCCAGATGTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:201958580_201958590delTTCCAGATGTG	ENST00000295640.4	+	3	701_711	c.658_668delTTCCAGATGTG	c.(658-669)ttccagatgtgtfs	p.FQMC220fs	RNPEP_ENST00000367286.3_Frame_Shift_Del_p.FQMC220fs|RNPEP_ENST00000471105.1_Intron	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	220					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TAAGTTCTTCTTCCAGATGTGTCAGCCCATC	0.507																																					GBM(19;39 479 7473 13131 19462)											0																																										SO:0001589	frameshift_variant	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.658_668delTTCCAGATGTG	chr1.hg19:g.201958580_201958590delTTCCAGATGTG	ENSP00000295640:p.Phe220fs		Q9BVM9|Q9H1D4|Q9NPT7	Frame_Shift_Del	DEL	ENST00000295640.4	hg19	CCDS1418.1																																																																																				0.507	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		-	201958590	TTCCAGATGTG	-	201958580	7	5	88	1	0	1	0	1	0	0	0	0	13515	1609	56	0	668	0	RNPEP	1	201958580	Frame_Shift_Del	DEL	TTCCAGATGTG	TCGA-A4-A6HP-01A-11D-A31X-10	50279858	201958580	47292041	10	5849											
CR1L	1379	hgsc.bcm.edu	37	1	207881586	207881586	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:207881586C>G	ENST00000508064.2	+	10	1452	c.1392C>G	c.(1390-1392)agC>agG	p.S464R	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	464	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCATTGGAGCATGAAGCCAC	0.428																																																0													268	258	261					1																	207881586		1901	4113	6014	SO:0001583	missense	1379			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1392C>G	chr1.hg19:g.207881586C>G	ENSP00000421736:p.Ser464Arg		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	hg19	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	5.589	0.293432	0.10567	.	.	ENSG00000197721	ENST00000508064	T	0.68765	-0.35	1.67	-3.04	0.05412	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.61110	0.2321	M	0.80332	2.49	0.09310	N	1	B	0.15473	0.013	B	0.23018	0.043	T	0.55315	-0.8160	9	0.48119	T	0.1	.	2.9622	0.05896	0.0:0.3631:0.2498:0.3871	.	464	Q2VPA4	CR1L_HUMAN	R	464	ENSP00000421736:S464R	ENSP00000421736:S464R	S	+	3	2	CR1L	205948209	0.007000	0.16637	0.000000	0.03702	0.046000	0.14306	-0.702000	0.05069	-0.814000	0.04352	0.298000	0.19748	AGC		0.428	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		G	207881586	C	G	207881586	3	3	88	1	0	0	0	0	1	0	0	0	3843	709	25	4	1430	4	CR1L	1	207881586	Missense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	5923006	207881586	41369035	11	5850											
OBSCN	84033	hgsc.bcm.edu	37	1	228520936	228520936	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr1:228520936G>C	ENST00000422127.1	+	58	15812	c.15768G>C	c.(15766-15768)gaG>gaC	p.E5256D	OBSCN_ENST00000366707.4_Missense_Mutation_p.E2890D|OBSCN_ENST00000570156.2_Missense_Mutation_p.E6213D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2375D|OBSCN_ENST00000284548.11_Missense_Mutation_p.E5256D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5256					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACTGATGAGGGCCAGCTGC	0.632																																																0													14	16	15					1																	228520936		1999	4165	6164	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15768G>C	chr1.hg19:g.228520936G>C	ENSP00000409493:p.Glu5256Asp		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475444	0.63737	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.65364	0.27;-0.15;-0.1;0.41	5.29	-2.78	0.05859	.	0.204869	0.40818	N	0.001014	T	0.30039	0.0752	N	0.04880	-0.145	0.34900	D	0.746403	B;B	0.16166	0.009;0.016	B;B	0.19148	0.011;0.024	T	0.01684	-1.1296	10	0.44086	T	0.13	.	2.9874	0.05972	0.3769:0.104:0.4128:0.1063	.	5256;5256	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	D	5256;5256;2890;2375	ENSP00000284548:E5256D;ENSP00000409493:E5256D;ENSP00000355668:E2890D;ENSP00000355670:E2375D	ENSP00000284548:E5256D	E	+	3	2	OBSCN	226587559	0.939000	0.31865	0.987000	0.45799	0.212000	0.24457	-0.019000	0.12546	-0.128000	0.11641	-0.254000	0.11334	GAG		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228520936	G	C	228520936	3	2	88	1	0	0	0	0	1	0	0	0	10814	991	35	4	15994	4	OBSCN	1	228520936	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	20639350	228520936	20729685	12	5851											
ANXA4	307	hgsc.bcm.edu	37	2	70039804	70039804	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:70039804A>T	ENST00000394295.4	+	8	745	c.497A>T	c.(496-498)aAt>aTt	p.N166I	ANXA4_ENST00000409920.1_Missense_Mutation_p.N144I|ANXA4_ENST00000536030.1_Missense_Mutation_p.N82I	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	164					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						GATGAAGGAAATTATCTGGAC	0.443																																																0													113	101	105					2																	70039804		2203	4300	6503	SO:0001583	missense	307			M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"Annexins"	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.497A>T	chr2.hg19:g.70039804A>T	ENSP00000377833:p.Asn166Ile		B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	hg19	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.083724	0.36758	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.12147	2.71;2.71;2.71	5.67	3.15	0.36227	.	0.343196	0.34268	N	0.004120	T	0.13670	0.0331	M	0.64567	1.98	0.33200	D	0.551962	B;B;B	0.33135	0.155;0.399;0.155	B;B;B	0.35039	0.105;0.194;0.105	T	0.10497	-1.0627	9	.	.	.	.	5.8848	0.18876	0.635:0.2795:0.0855:0.0	.	164;144;166	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	I	144;166;82	ENSP00000386756:N144I;ENSP00000377833:N166I;ENSP00000441931:N82I	.	N	+	2	0	ANXA4	69893308	0.145000	0.22656	0.915000	0.36163	0.808000	0.45660	1.316000	0.33620	0.982000	0.38575	0.533000	0.62120	AAT		0.443	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		T	70039804	A	T	70039804	3	4	88	1	0	0	0	0	1	0	0	0	720	101	4	5	523	5	ANXA4	2	70039804	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10		70039804	173159569	13	5852											
MPHOSPH10	10199	hgsc.bcm.edu	37	2	71360588	71360588	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:71360588T>G	ENST00000244230.2	+	2	1002	c.650T>G	c.(649-651)aTa>aGa	p.I217R	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.I217R	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	217					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTAGAAAACATAGAAAAAGAA	0.353																																																0													63	70	68					2																	71360588		2202	4300	6502	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.650T>G	chr2.hg19:g.71360588T>G	ENSP00000244230:p.Ile217Arg		A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	hg19	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363316	0.41902	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.09817	2.94;2.94	5.04	5.04	0.67666	.	0.585812	0.20103	N	0.099190	T	0.09555	0.0235	N	0.19112	0.55	0.22389	N	0.999144	P;P	0.49696	0.927;0.655	P;B	0.46419	0.516;0.305	T	0.27434	-1.0074	10	0.17369	T	0.5	.	13.0251	0.58810	0.0:0.0:0.0:1.0	.	217;217	B3KPV5;O00566	.;MPP10_HUMAN	R	217;77	ENSP00000244230:I217R;ENSP00000393034:I77R	ENSP00000244230:I217R	I	+	2	0	MPHOSPH10	71214096	0.146000	0.22672	0.072000	0.20136	0.923000	0.55619	1.710000	0.37920	2.040000	0.60383	0.397000	0.26171	ATA		0.353	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		G	71360588	T	G	71360588	3	3	88	1	0	0	0	0	1	0	0	0	9727	1406	49	5	656	5	MPHOSPH10	2	71360588	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	1320784	71360588	171838785	14	5853											
IMMT	10989	hgsc.bcm.edu	37	2	86371557	86371557	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:86371557T>A	ENST00000410111.3	-	15	2498	c.2111A>T	c.(2110-2112)gAg>gTg	p.E704V	IMMT_ENST00000449247.2_Missense_Mutation_p.E693V|IMMT_ENST00000254636.5_Missense_Mutation_p.E605V|IMMT_ENST00000442664.2_Missense_Mutation_p.E703V|IMMT_ENST00000409051.2_Missense_Mutation_p.E657V	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	704					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCTGCTAGCTCCAGATCACC	0.488																																																0													102	97	98					2																	86371557		1969	4166	6135	SO:0001583	missense	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.2111A>T	chr2.hg19:g.86371557T>A	ENSP00000387262:p.Glu704Val		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	hg19	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501330	0.85176	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	T	0.59820	-0.7382	10	0.51188	T	0.08	-20.9731	15.8107	0.78561	0.0:0.0:0.0:1.0	.	657;692;693;672;704	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891	.;.;.;.;IMMT_HUMAN	V	605;693;704;703;657;693;672;318;605	ENSP00000254636:E605V;ENSP00000396899:E693V;ENSP00000387262:E704V;ENSP00000407788:E703V;ENSP00000387227:E657V	ENSP00000254636:E605V	E	-	2	0	IMMT	86225068	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.868000	0.87116	2.320000	0.78422	0.529000	0.55759	GAG		0.488	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		A	86371557	T	A	86371557	3	1	88	1	0	0	0	0	1	0	0	0	7720	1551	54	5	169	5	IMMT	2	86371557	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	15010969	86371557	156827816	15	5854											
SMPD4	55627	hgsc.bcm.edu	37	2	130912744	130912744	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:130912744G>A	ENST00000409031.1	-	15	2643	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S	SMPD4_ENST00000452225.2_Missense_Mutation_p.P240S|SMPD4_ENST00000426662.2_Missense_Mutation_p.P135S|SMPD4_ENST00000339679.7_Missense_Mutation_p.P357S|SMPD4_ENST00000443958.2_Missense_Mutation_p.P163S|SMPD4_ENST00000431183.2_Missense_Mutation_p.P397S|SMPD4_ENST00000453750.1_Missense_Mutation_p.P248S|SMPD4_ENST00000351288.6_Missense_Mutation_p.P470S|SMPD4_ENST00000473720.1_5'Flank	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	460					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCGTGCTTGGGGCTGACCAGG	0.597																																																0													89	85	86					2																	130912744		2203	4300	6503	SO:0001583	missense	55627			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1495C>T	chr2.hg19:g.130912744G>A	ENSP00000386531:p.Pro499Ser		B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	hg19	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.79|18.79	3.698485|3.698485	0.68386|0.68386	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000430682|ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039;ENST00000449159;ENST00000451542	.|.	.|.	.|.	4.24|4.24	4.24|4.24	0.50183|0.50183	.|.	0.182604|0.182604	0.47852|0.47852	D|D	0.000216|0.000216	T|T	0.76449|0.76449	0.3989|0.3989	M|M	0.74881|0.74881	2.28|2.28	0.42852|0.42852	D|D	0.994089|0.994089	.|D;D;D;D;P;D;P;D;D	.|0.71674	.|0.997;0.967;0.988;0.988;0.793;0.975;0.939;0.99;0.998	.|D;P;P;P;B;P;P;P;D	.|0.80764	.|0.931;0.595;0.896;0.896;0.258;0.644;0.745;0.878;0.994	T|T	0.75895|0.75895	-0.3156|-0.3156	6|9	.|0.29301	.|T	.|0.29	.|.	14.1436|14.1436	0.65336|0.65336	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|135;240;397;357;248;431;460;499;506	.|B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4	.|.;.;.;.;.;.;NSMA3_HUMAN;.;.	L|S	180|470;499;397;248;163;357;240;135;96;35;241	.|.	.|ENSP00000339721:P357S	P|P	-|-	2|1	0|0	SMPD4|SMPD4	130629214|130629214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.637000|0.637000	0.38172|0.38172	5.392000|5.392000	0.66272|0.66272	1.886000|1.886000	0.54624|0.54624	0.305000|0.305000	0.20034|0.20034	CCC|CCC		0.597	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		A	130912744	G	A	130912744	3	1	88	1	0	0	0	0	1	0	0	0	14813	1232	43	2	1129	2	SMPD4	2	130912744	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	44541187	130912744	112286629	16	5855											
DNAJC10	54431	hgsc.bcm.edu	37	2	183594619	183594619	+	Silent	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:183594619G>T	ENST00000264065.7	+	8	1093	c.678G>T	c.(676-678)gtG>gtT	p.V226V	DNAJC10_ENST00000537515.1_Silent_p.V226V	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	226	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGAGTTTAGTGAGTTTTGCAA	0.323																																					Pancreas(56;860 1183 25669 35822 48585)											0													148	159	155					2																	183594619		2203	4300	6503	SO:0001819	synonymous_variant	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.678G>T	chr2.hg19:g.183594619G>T			Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	hg19	CCDS33345.1																																																																																				0.323	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		T	183594619	G	T	183594619	2	4	88	1	0	0	0	0	0	0	0	1	4631	1277	45	4		4	DNAJC10	2	183594619	Silent	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	52681875	183594619	59604754	17	5856											
HSPE1	3336	hgsc.bcm.edu	37	2	198365881	198365881	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:198365881A>G	ENST00000233893.5	+	2	530	c.87A>G	c.(85-87)ggA>ggG	p.G29G	HSPD1_ENST00000345042.2_5'Flank|HSPE1_ENST00000409729.1_Intron|HSPD1_ENST00000544407.1_5'Flank|HSPE1_ENST00000409468.1_Silent_p.G29G|HSPE1-MOB4_ENST00000604458.1_Silent_p.G29G|HSPE1_ENST00000465573.1_Intron|HSPD1_ENST00000388968.3_5'Flank	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	29					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			TAACCAAAGGAGGCATTATGC	0.438																																																0													59	60	60					2																	198365881		2203	4297	6500	SO:0001819	synonymous_variant	3336			AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"Heat Shock Proteins / Chaperonins"	5269	protein-coding gene	gene with protein product	"chaperonin 10"	600141	"heat shock 10kD protein 1 (chaperonin 10)"			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.87A>G	chr2.hg19:g.198365881A>G			O95421|Q04984|Q53X54|Q9UDH0	Silent	SNP	ENST00000233893.5	hg19	CCDS2320.1																																																																																				0.438	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		G	198365881	A	G	198365881	2	3	88	1	0	0	0	0	0	0	0	1	7431	291	11	3		3	HSPE1	2	198365881	Silent	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	14771262	198365881	44833492	18	5857											
NIF3L1	60491	hgsc.bcm.edu	37	2	201768315	201768315	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr2:201768315C>A	ENST00000409020.1	+	7	1342	c.1048C>A	c.(1048-1050)Ctt>Att	p.L350I	NIF3L1_ENST00000359683.4_Missense_Mutation_p.L323I|NIF3L1_ENST00000409357.1_Missense_Mutation_p.L350I|NIF3L1_ENST00000416651.1_Missense_Mutation_p.L350I|NIF3L1_ENST00000409588.1_3'UTR			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	350					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TCTTTCTGACCTTCGAGATAT	0.423																																																0													140	131	134					2																	201768315		1885	4113	5998	SO:0001583	missense	60491			AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1", "NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.1048C>A	chr2.hg19:g.201768315C>A	ENSP00000386394:p.Leu350Ile		Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	hg19	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267008	0.80469	.	.	ENSG00000196290	ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.33	5.33	0.75918	.	0.052331	0.85682	D	0.000000	T	0.67618	0.2912	M	0.72624	2.21	0.46437	D	0.999043	D	0.69078	0.997	D	0.65573	0.936	T	0.65631	-0.6121	10	0.39692	T	0.17	-14.3245	19.3851	0.94553	0.0:1.0:0.0:0.0	.	350	Q9GZT8	NIF3L_HUMAN	I	350;350;323;350	ENSP00000400787:L350I;ENSP00000386394:L350I;ENSP00000352711:L323I;ENSP00000387315:L350I	ENSP00000352711:L323I	L	+	1	0	NIF3L1	201476560	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.771000	0.47670	2.656000	0.90262	0.557000	0.71058	CTT		0.423	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		A	201768315	C	A	201768315	3	1	88	1	0	0	0	0	1	0	0	0	10418	681	24	4	1070	4	NIF3L1	2	201768315	Missense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	3402434	201768315	41431058	19	5858											
KLHL18	23276	hgsc.bcm.edu	37	3	47374712	47374713	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:47374712_47374713GC>TA	ENST00000232766.5	+	5	686_687	c.666_667GC>TA	c.(664-669)gaGCtg>gaTAtg	p.222_223EL>DM	KLHL18_ENST00000455924.2_Missense_Mutation_p.110_111EL>DM	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	222	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACCTGCCTGAGCTGCTGTCCAA	0.569																																																0																																										SO:0001583	missense	23276			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	Exception_encountered	chr3.hg19:g.47374712_47374713delinsTA	ENSP00000232766:p.E222_L223delinsDM		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	hg19	CCDS33749.1																																																																																				0.569	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		TA	47374713	GC	TA	47374712	3	4	88	1	0	0	0	0	1	0	0	0	8375	962	34	4	684	4	KLHL18	3	47374712	Missense_Mutation	DNP	GC	TCGA-A4-A6HP-01A-11D-A31X-10		47374712	150647718	20	5859											
TMF1	7110	hgsc.bcm.edu	37	3	69072460	69072460	+	Silent	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:69072460T>C	ENST00000398559.2	-	17	3366	c.3150A>G	c.(3148-3150)caA>caG	p.Q1050Q	CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'Flank|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Silent_p.Q1053Q|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1050					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGTTGTACCTTTGATCCAAAT	0.299																																																0													93	78	82					3																	69072460		1810	4067	5877	SO:0001819	synonymous_variant	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3150A>G	chr3.hg19:g.69072460T>C			B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	hg19	CCDS43105.1																																																																																				0.299	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		C	69072460	T	C	69072460	2	2	88	1	0	0	0	0	0	0	0	1	16233	1838	64	3		3	TMF1	3	69072460	Silent	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	21697748	69072460	128949970	21	5860											
NDUFB4	4710	hgsc.bcm.edu	37	3	120320001	120320001	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:120320001A>G	ENST00000184266.2	+	2	275	c.224A>G	c.(223-225)aAt>aGt	p.N75S	NDUFB4_ENST00000485064.1_Missense_Mutation_p.N75S|NDUFB4_ENST00000492739.1_Intron	NM_004547.5	NP_004538.2	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	75					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)		AGAACAATAAATGTCTATCCT	0.363																																																0													132	142	139					3																	120320001		2203	4296	6499	SO:0001583	missense	4710			AF044957	CCDS2999.1, CCDS54630.1	3q13.33	2011-07-04	2002-08-29		ENSG00000065518	ENSG00000065518		"Mitochondrial respiratory chain complex / Complex I"	7699	protein-coding gene	gene with protein product	"complex I B15 subunit"	603840	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)"			9878551	Standard	NM_004547		Approved	B15	uc003edu.3	O95168	OTTHUMG00000159442	ENST00000184266.2:c.224A>G	chr3.hg19:g.120320001A>G	ENSP00000184266:p.Asn75Ser		B2RUY3|B9EJC7	Missense_Mutation	SNP	ENST00000184266.2	hg19	CCDS2999.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.635688	0.29068	.	.	ENSG00000065518	ENST00000184266;ENST00000485064	.	.	.	5.45	5.45	0.79879	.	0.052553	0.85682	D	0.000000	T	0.57562	0.2062	M	0.71581	2.175	0.80722	D	1	B;P	0.38129	0.103;0.619	B;B	0.38921	0.047;0.285	T	0.60929	-0.7165	9	0.45353	T	0.12	2.7254	11.8278	0.52278	1.0:0.0:0.0:0.0	.	75;75	O95168;B2RUY3	NDUB4_HUMAN;.	S	75	.	ENSP00000184266:N75S	N	+	2	0	NDUFB4	121802691	0.971000	0.33674	0.492000	0.27490	0.082000	0.17680	3.410000	0.52664	2.288000	0.76882	0.533000	0.62120	AAT		0.363	NDUFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355420.1	NM_004547		G	120320001	A	G	120320001	3	3	88	1	0	0	0	0	1	0	0	0	10285	101	4	3	230	3	NDUFB4	3	120320001	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	51247541	120320001	77702429	22	5861											
NMD3	51068	hgsc.bcm.edu	37	3	160964158	160964158	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:160964158C>T	ENST00000460469.1	+	11	1507	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	NMD3_ENST00000472947.1_Missense_Mutation_p.S351F|NMD3_ENST00000351193.2_Missense_Mutation_p.S351F			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	351					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CAGAAGACATCTGAAATGAAT	0.353																																																0													75	77	76					3																	160964158		2203	4300	6503	SO:0001583	missense	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1052C>T	chr3.hg19:g.160964158C>T	ENSP00000419004:p.Ser351Phe		D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	hg19	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751897	0.89753	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.24723	1.84;1.84;1.84	5.01	5.01	0.66863	.	0.055185	0.85682	D	0.000000	T	0.57388	0.2050	M	0.91354	3.2	0.80722	D	1	D;D;D	0.56968	0.972;0.978;0.976	P;P;P	0.59703	0.781;0.862;0.556	T	0.68213	-0.5468	10	0.87932	D	0	-30.719	18.1915	0.89808	0.0:1.0:0.0:0.0	.	351;351;351	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	F	351;351;351;231	ENSP00000307525:S351F;ENSP00000417559:S351F;ENSP00000419004:S351F	ENSP00000307525:S351F	S	+	2	0	NMD3	162446852	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.963000	0.76055	2.709000	0.92574	0.655000	0.94253	TCT		0.353	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		T	160964158	C	T	160964158	3	4	88	1	0	0	0	0	1	0	0	0	10490	913	32	2	1094	2	NMD3	3	160964158	Missense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	40644157	160964158	37058272	23	5862											
PARL	55486	hgsc.bcm.edu	37	3	183602604	183602604	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr3:183602604A>G	ENST00000317096.4	-	1	91	c.31T>C	c.(31-33)Tgg>Cgg	p.W11R	MIR4448_ENST00000584360.1_RNA|PARL_ENST00000311101.5_Missense_Mutation_p.W11R|PARL_ENST00000435888.1_Missense_Mutation_p.W11R|RP11-315J22.5_ENST00000445165.1_RNA	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	11					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCAGCCCCAGCCTCTCTGC	0.697											OREG0015941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													10	11	11					3																	183602604		2174	4246	6420	SO:0001583	missense	55486			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.31T>C	chr3.hg19:g.183602604A>G	ENSP00000325421:p.Trp11Arg	1985	Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	hg19	CCDS3248.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.650621	0.67472	.	.	ENSG00000175193	ENST00000317096;ENST00000311101;ENST00000435888	T;T;T	0.58652	0.42;0.32;0.33	4.72	4.72	0.59763	.	0.104022	0.38217	N	0.001779	T	0.51770	0.1694	L	0.40543	1.245	0.37352	D	0.910834	P;P	0.40107	0.703;0.664	B;B	0.42692	0.395;0.296	T	0.62959	-0.6743	10	0.87932	D	0	-25.2787	10.7723	0.46330	1.0:0.0:0.0:0.0	.	11;11	Q9H300-2;Q9H300	.;PARL_HUMAN	R	11	ENSP00000325421:W11R;ENSP00000310676:W11R;ENSP00000402137:W11R	ENSP00000310676:W11R	W	-	1	0	PARL	185085298	0.998000	0.40836	1.000000	0.80357	0.719000	0.41307	3.655000	0.54460	2.118000	0.64928	0.533000	0.62120	TGG		0.697	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		G	183602604	A	G	183602604	3	3	88	1	0	0	0	0	1	0	0	0	11453	188	7	3	1148	3	PARL	3	183602604	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	22638446	183602604	14419826	24	5863											
ZNF721	170960	hgsc.bcm.edu	37	4	436719	436719	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr4:436719A>G	ENST00000338977.5	-	2	1549	c.1501T>C	c.(1501-1503)Tcc>Ccc	p.S501P	ZNF721_ENST00000511833.2_Missense_Mutation_p.S513P|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGGGTTGTGGAACTAGTAAAC	0.398																																																0													84	92	89					4																	436719		2098	4242	6340	SO:0001583	missense	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1501T>C	chr4.hg19:g.436719A>G	ENSP00000340524:p.Ser501Pro		Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	hg19		.	.	.	.	.	.	.	.	.	.	A	3.452	-0.111794	0.06881	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.07908	3.15;3.15	0.419	-0.837	0.10766	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13927	0.0337	L	0.55743	1.74	0.09310	N	1	P;P;P	0.45348	0.856;0.669;0.777	P;P;P	0.55112	0.592;0.592;0.769	T	0.16217	-1.0410	9	0.42905	T	0.14	.	4.3636	0.11213	0.3506:0.0:0.6494:0.0	.	501;513;513	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	P	501;513	ENSP00000340524:S501P;ENSP00000428878:S513P	ENSP00000340524:S501P	S	-	1	0	ZNF721	426719	0.000000	0.05858	0.002000	0.10522	0.089000	0.18198	-1.976000	0.01497	-0.428000	0.07339	0.155000	0.16302	TCC		0.398	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		G	436719	A	G	436719	3	3	88	1	0	0	0	0	1	0	0	0	18127	246	9	3	1238	3	ZNF721	4	436719	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10		436719	190717557	25	5864											
TMEM192	201931	hgsc.bcm.edu	37	4	166000935	166000935	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr4:166000935G>T	ENST00000306480.6	-	6	836	c.691C>A	c.(691-693)Cta>Ata	p.L231I	TMEM192_ENST00000506087.1_Missense_Mutation_p.L227I	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	231						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		ATTTCTTCTAGGCTTGAAATA	0.388																																																0													94	88	90					4																	166000935		1868	4109	5977	SO:0001583	missense	201931			BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.691C>A	chr4.hg19:g.166000935G>T	ENSP00000305069:p.Leu231Ile		Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	hg19	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692853	0.30052	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.97	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.73962	2.25	0.41322	D	0.987189	B	0.27997	0.197	B	0.30716	0.119	T	0.60627	-0.7226	9	0.66056	D	0.02	-38.5919	6.9529	0.24556	0.3323:0.0:0.6677:0.0	.	231	Q8IY95	TM192_HUMAN	I	231;227	.	ENSP00000305069:L231I	L	-	1	2	TMEM192	166220385	1.000000	0.71417	0.172000	0.22920	0.509000	0.34042	2.379000	0.44318	0.868000	0.35678	0.591000	0.81541	CTA		0.388	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		T	166000935	G	T	166000935	3	4	88	1	0	0	0	0	1	0	0	0	16120	991	35	4	128	4	TMEM192	4	166000935	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	165564216	166000935	25153341	26	5865											
PPARGC1B	133522	hgsc.bcm.edu	37	5	149213062	149213062	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr5:149213062G>A	ENST00000309241.5	+	5	1458	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.V437M|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.V412M|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.V476M	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	476					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTGTGCCCCGTGCGGCGTTC	0.637																																																0													42	44	43					5																	149213062		2182	4277	6459	SO:0001583	missense	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1426G>A	chr5.hg19:g.149213062G>A	ENSP00000312649:p.Val476Met		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	hg19	CCDS4298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.80|18.80	3.700810|3.700810	0.68501|0.68501	.|.	.|.	ENSG00000155846|ENSG00000155846	ENST00000434684|ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	.|T;T;T;T	.|0.14266	.|2.53;2.52;2.54;2.52	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.29749|0.29749	0.0743|0.0743	L|L	0.36672|0.36672	1.1|1.1	0.43207|0.43207	D|D	0.995068|0.995068	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999;0.999	T|T	0.01294|0.01294	-1.1393|-1.1393	5|10	.|0.66056	.|D	.|0.02	-15.2485|-15.2485	17.3201|17.3201	0.87233|0.87233	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|455;455;437;476;476	.|Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.|.;.;.;PRGC2_HUMAN;.	H|M	162|437;476;476;412	.|ENSP00000353638:V437M;ENSP00000377855:V476M;ENSP00000312649:V476M;ENSP00000384403:V412M	.|ENSP00000312649:V476M	R|V	+|+	2|1	0|0	PPARGC1B|PPARGC1B	149193255|149193255	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.758000|0.758000	0.43043|0.43043	4.727000|4.727000	0.61993|0.61993	2.521000|2.521000	0.84997|0.84997	0.462000|0.462000	0.41574|0.41574	CGT|GTG		0.637	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		A	149213062	G	A	149213062	3	1	88	1	0	0	0	0	1	0	0	0	12303	1145	40	1	1451	1	PPARGC1B	5	149213062	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10		149213062	31702198	27	5866											
GALNT10	55568	hgsc.bcm.edu	37	5	153755929	153755929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr5:153755929C>T	ENST00000297107.6	+	5	798	c.661C>T	c.(661-663)Cga>Tga	p.R221*	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Nonsense_Mutation_p.R221*|GALNT10_ENST00000377661.2_Intron|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	221	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GATAAGGACCCGAATGCTGGG	0.522																																																0													90	89	90					5																	153755929		2203	4300	6503	SO:0001587	stop_gained	55568			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.661C>T	chr5.hg19:g.153755929C>T	ENSP00000297107:p.Arg221*		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Nonsense_Mutation	SNP	ENST00000297107.6	hg19	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	C	38	7.017290	0.98006	.	.	ENSG00000164574	ENST00000425427;ENST00000297107	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	221	.	ENSP00000297107:R221X	R	+	1	2	GALNT10	153736122	0.997000	0.39634	1.000000	0.80357	0.936000	0.57629	3.644000	0.54381	2.884000	0.98904	0.655000	0.94253	CGA		0.522	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		T	153755929	C	T	153755929	4	4	88	1	0	0	0	0	0	1	0	0	6210	644	23	1	679	1	GALNT10	5	153755929	Nonsense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	4542867	153755929	27159331	28	5867											
CPEB4	80315	hgsc.bcm.edu	37	5	173317154	173317154	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr5:173317154T>G	ENST00000265085.5	+	1	1872	c.418T>G	c.(418-420)Ttg>Gtg	p.L140V	CPEB4_ENST00000519835.1_Missense_Mutation_p.L140V|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000520867.1_Missense_Mutation_p.L140V|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000334035.5_Missense_Mutation_p.L140V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	140					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCTCCAGTGTTGACAGGGTT	0.448																																																0													103	105	105					5																	173317154		2203	4300	6503	SO:0001583	missense	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.418T>G	chr5.hg19:g.173317154T>G	ENSP00000265085:p.Leu140Val		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	hg19	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525591	0.44969	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.96	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.997;0.997	D;D;D;D	0.87578	0.996;0.998;0.996;0.996	T	0.61686	-0.7012	10	0.72032	D	0.01	-9.5609	9.6678	0.39994	0.0:0.1383:0.0:0.8617	.	140;140;140;140	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	V	140	ENSP00000265085:L140V;ENSP00000429092:L140V;ENSP00000334533:L140V;ENSP00000429048:L140V	ENSP00000265085:L140V	L	+	1	2	CPEB4	173249760	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.961000	0.40432	1.089000	0.41292	0.533000	0.62120	TTG		0.448	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		G	173317154	T	G	173317154	3	3	88	1	0	0	0	0	1	0	0	0	3805	1722	60	5	420	5	CPEB4	5	173317154	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	19561225	173317154	7598106	29	5868											
CDHR2	54825	hgsc.bcm.edu	37	5	176018324	176018324	+	Splice_Site	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr5:176018324G>A	ENST00000510636.1	+	29	3927	c.3653G>A	c.(3652-3654)cGa>cAa	p.R1218Q	CDHR2_ENST00000506348.1_Splice_Site_p.R1218Q|CDHR2_ENST00000261944.5_Splice_Site_p.R1218Q	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1218					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AACACTGAGCGGTGAGCAGGG	0.597																																																0													66	64	65					5																	176018324		2203	4300	6503	SO:0001630	splice_region_variant	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3653+1G>A	chr5.hg19:g.176018324G>A			A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	hg19	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	g	12.10	1.836140	0.32421	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56103	0.48;0.48;0.48	4.24	2.24	0.28232	.	.	.	.	.	T	0.45236	0.1332	M	0.70595	2.14	0.32458	N	0.544539	P	0.52061	0.95	B	0.38428	0.273	T	0.56378	-0.7989	9	0.25751	T	0.34	-7.212	9.1617	0.37028	0.203:0.0:0.797:0.0	.	1218	Q9BYE9	CDHR2_HUMAN	Q	1218	ENSP00000424565:R1218Q;ENSP00000261944:R1218Q;ENSP00000421078:R1218Q	ENSP00000261944:R1218Q	R	+	2	0	CDHR2	175950930	1.000000	0.71417	0.933000	0.37362	0.367000	0.29736	3.600000	0.54052	1.036000	0.39998	0.459000	0.35465	CGA		0.597	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	Missense_Mutation	A	176018324	G	A	176018324	5	1	88	1	0	0	0	0	0	0	1	0	3121	1130	39	1	3763	1	CDHR2	5	176018324	Splice_Site	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	2701170	176018324	4896936	30	5869											
DSP	1832	hgsc.bcm.edu	37	6	7583589	7583589	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr6:7583589G>A	ENST00000379802.3	+	24	6435	c.6094G>A	c.(6094-6096)Gta>Ata	p.V2032I	DSP_ENST00000418664.2_Missense_Mutation_p.V1433I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2032	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATACTCTTTGGTAGAGGCCAA	0.478																																																0													49	54	52					6																	7583589		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6094G>A	chr6.hg19:g.7583589G>A	ENSP00000369129:p.Val2032Ile		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877522	0.51801	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.67523	-0.27;-0.27	4.98	4.98	0.66077	.	0.000000	0.52532	D	0.000074	T	0.44456	0.1294	L	0.36672	1.1	0.25902	N	0.983344	P;P	0.45078	0.85;0.779	B;B	0.41236	0.278;0.351	T	0.45131	-0.9282	10	0.22109	T	0.4	.	18.6091	0.91277	0.0:0.0:1.0:0.0	.	1480;2032	Q4LE79;P15924	.;DESP_HUMAN	I	2032;1433	ENSP00000369129:V2032I;ENSP00000396591:V1433I	ENSP00000369129:V2032I	V	+	1	0	DSP	7528588	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.384000	0.59607	2.459000	0.83118	0.655000	0.94253	GTA		0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7583589	G	A	7583589	3	1	88	1	0	0	0	0	1	0	0	0	4783	1261	44	2	6188	2	DSP	6	7583589	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10		7583589	163531478	31	5870											
TMEM170B	100113407	hgsc.bcm.edu	37	6	11575733	11575733	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr6:11575733G>T	ENST00000379426.1	+	3	338	c.338G>T	c.(337-339)gGc>gTc	p.G113V	TMEM170B_ENST00000543875.1_Missense_Mutation_p.G113V	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	113						integral component of membrane (GO:0016021)				large_intestine(3)|lung(5)	8						CTGGTATGGGGCGTTGGACAG	0.473																																																0													203	196	198					6																	11575733		1966	4141	6107	SO:0001583	missense	100113407				CCDS43425.1	6p24.1	2008-08-08			ENSG00000205269	ENSG00000205269			34244	protein-coding gene	gene with protein product							Standard	NM_001100829		Approved		uc010jpa.4	Q5T4T1	OTTHUMG00000014259	ENST00000379426.1:c.338G>T	chr6.hg19:g.11575733G>T	ENSP00000368737:p.Gly113Val			Missense_Mutation	SNP	ENST00000379426.1	hg19	CCDS43425.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373246	0.82573	.	.	ENSG00000205269	ENST00000543875;ENST00000379426	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.75645	-0.3246	9	0.87932	D	0	-20.3795	19.0673	0.93116	0.0:0.0:1.0:0.0	.	113	Q5T4T1	T170B_HUMAN	V	113	.	ENSP00000368737:G113V	G	+	2	0	TMEM170B	11683719	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.466000	0.97665	2.502000	0.84385	0.579000	0.79373	GGC		0.473	TMEM170B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000039862.1	NM_001100829		T	11575733	G	T	11575733	3	4	88	1	0	0	0	0	1	0	0	0	16092	1203	42	4	348	4	TMEM170B	6	11575733	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	3992144	11575733	159539334	32	5871											
RIMS1	22999	hgsc.bcm.edu	37	6	73017054	73017055	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr6:73017054_73017055delAT	ENST00000521978.1	+	27	3944_3945	c.3944_3945delAT	c.(3943-3945)gatfs	p.D1315fs	RIMS1_ENST00000517960.1_Frame_Shift_Del_p.D1107fs|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000264839.7_Frame_Shift_Del_p.D1164fs|RIMS1_ENST00000491071.2_Frame_Shift_Del_p.D1138fs|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000348717.5_Frame_Shift_Del_p.D1107fs|RIMS1_ENST00000401910.3_Frame_Shift_Del_p.D635fs|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000538414.1_Frame_Shift_Del_p.D121fs|RIMS1_ENST00000425662.2_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1315					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAGAACTTGATCGCGAGCAAT	0.401																																																0																																										SO:0001589	frameshift_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3944_3945delAT	chr6.hg19:g.73017054_73017055delAT	ENSP00000428417:p.Asp1315fs		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Frame_Shift_Del	DEL	ENST00000521978.1	hg19	CCDS47449.1																																																																																				0.401	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			-	73017055	AT	-	73017054	7	5	88	1	0	1	0	1	0	0	0	0	13373	333	12	0	4213	0	RIMS1	6	73017054	Frame_Shift_Del	DEL	AT	TCGA-A4-A6HP-01A-11D-A31X-10	61441321	73017054	98098013	33	5872											
ECT2L	345930	hgsc.bcm.edu	37	6	139135653	139135653	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr6:139135653T>C	ENST00000423192.1	+	3	253	c.92T>C	c.(91-93)aTa>aCa	p.I31T	ECT2L_ENST00000367682.2_Missense_Mutation_p.I31T|ECT2L_ENST00000541398.1_5'Flank			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	31							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GTGGCTCTTATAAGTCATTGG	0.368			"N, Splice, Mis"		ETP ALL																																		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													77	75	76					6																	139135653		1836	4092	5928	SO:0001583	missense	345930				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.92T>C	chr6.hg19:g.139135653T>C	ENSP00000387388:p.Ile31Thr		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	hg19	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809410	0.50421	.	.	ENSG00000203734	ENST00000423192;ENST00000401414;ENST00000367682	T;T;T	0.62498	0.02;0.65;0.02	5.43	5.43	0.79202	.	.	.	.	.	T	0.44477	0.1295	L	0.33485	1.01	0.80722	D	1	D	0.54047	0.964	P	0.45310	0.476	T	0.55347	-0.8155	9	0.87932	D	0	.	13.0191	0.58775	0.0:0.0:0.0:1.0	.	31	Q008S8	ECT2L_HUMAN	T	31	ENSP00000387388:I31T;ENSP00000385187:I31T;ENSP00000356655:I31T	ENSP00000356655:I31T	I	+	2	0	ECT2L	139177346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.876000	0.63079	2.066000	0.61787	0.533000	0.62120	ATA		0.368	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		C	139135653	T	C	139135653	3	2	88	1	0	0	0	0	1	0	0	0	4904	1406	49	3	98	3	ECT2L	6	139135653	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	66118599	139135653	31979414	34	5873											
CITED2	10370	hgsc.bcm.edu	37	6	139694869	139694869	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr6:139694869A>G	ENST00000367651.2	-	2	428	c.213T>C	c.(211-213)caT>caC	p.H71H	CITED2_ENST00000537332.1_Silent_p.H71H|CITED2_ENST00000536159.1_Silent_p.H71H	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	71					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GCCCCATCGCATGCCTGATGC	0.672																																					NSCLC(98;1219 1550 33720 43229 49330)											0													34	34	34					6																	139694869		2203	4299	6502	SO:0001819	synonymous_variant	10370			U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.213T>C	chr6.hg19:g.139694869A>G			O95426|Q5VTF4	Silent	SNP	ENST00000367651.2	hg19	CCDS5195.1																																																																																				0.672	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			G	139694869	A	G	139694869	2	3	88	1	0	0	0	0	0	0	0	1	3442	214	8	3		3	CITED2	6	139694869	Silent	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	559216	139694869	31420198	35	5874											
RADIL	55698	hgsc.bcm.edu	37	7	4841357	4841357	+	Silent	SNP	G	G	A	rs369296363	byFrequency	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr7:4841357G>A	ENST00000399583.3	-	12	2956	c.2769C>T	c.(2767-2769)ggC>ggT	p.G923G	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Silent_p.G683G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	923	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACAGGGGCCGCCGGACTCTG	0.711													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14081	0.0		0.0	False		,,,				2504	0.0															0								G		2,3724		0,2,1861	8	10	10		2769	-3.9	0	7		10	0,8120		0,0,4060	no	coding-synonymous	RADIL	NM_018059.4		0,2,5921	AA,AG,GG		0.0,0.0537,0.0169		923/1076	4841357	2,11844	1863	4060	5923	SO:0001819	synonymous_variant	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2769C>T	chr7.hg19:g.4841357G>A			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	hg19	CCDS43544.1																																																																																				0.711	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		A	4841357	G	A	4841357	2	1	88	1	0	0	0	0	0	0	0	1	13003	1074	38	1		1	RADIL	7	4841357	Silent	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10		4841357	154297306	36	5875											
RINT1	60561	hgsc.bcm.edu	37	7	105189036	105189036	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr7:105189036delA	ENST00000257700.2	+	7	1106	c.875delA	c.(874-876)gaafs	p.E292fs		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	292	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAACTCCCAGAAAAATACTCT	0.428																																																0													190	164	173					7																	105189036		2203	4300	6503	SO:0001589	frameshift_variant	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.875delA	chr7.hg19:g.105189036delA	ENSP00000257700:p.Glu292fs		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Frame_Shift_Del	DEL	ENST00000257700.2	hg19	CCDS34726.1																																																																																				0.428	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		-	105189036	A	-	105189036	7	5	88	1	0	1	0	1	0	0	0	0	13382	246	9	0	901	0	RINT1	7	105189036	Frame_Shift_Del	DEL	A	TCGA-A4-A6HP-01A-11D-A31X-10	100347679	105189036	53949627	37	5876											
SGK196	84197	hgsc.bcm.edu	37	8	42977953	42977953	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr8:42977953A>G	ENST00000331373.5	+	5	1241	c.986A>G	c.(985-987)gAg>gGg	p.E329G		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	329	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GACGTTCTGGAGACCTACCAG	0.478																																																0													87	94	91					8																	42977953		2203	4300	6503	SO:0001583	missense	0				CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.986A>G	chr8.hg19:g.42977953A>G	ENSP00000331258:p.Glu329Gly			Missense_Mutation	SNP	ENST00000331373.5	hg19	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.439110	0.25900	.	.	ENSG00000185900	ENST00000331373	T	0.23348	1.91	5.45	5.45	0.79879	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.258956	0.44483	D	0.000449	T	0.19446	0.0467	L	0.29908	0.895	0.26493	N	0.974911	B	0.22604	0.072	B	0.19391	0.025	T	0.12293	-1.0553	9	.	.	.	-20.8671	13.4611	0.61227	1.0:0.0:0.0:0.0	.	329	Q9H5K3	SG196_HUMAN	G	329	ENSP00000331258:E329G	.	E	+	2	0	AC113191.1	43097110	1.000000	0.71417	0.760000	0.31359	0.425000	0.31504	3.808000	0.55598	2.065000	0.61736	0.482000	0.46254	GAG		0.478	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		G	42977953	A	G	42977953	3	3	88	1	0	0	0	0	1	0	0	0	14214	304	11	3	992	3	SGK196	8	42977953	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10		42977953	103386069	38	5877											
FER1L6	654463	hgsc.bcm.edu	37	8	124992806	124992806	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr8:124992806G>A	ENST00000522917.1	+	11	1371	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	FER1L6_ENST00000399018.1_Missense_Mutation_p.E389K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	389						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGCTTTGGGGAAGGTGTGTC	0.512											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													161	159	160					8																	124992806		1882	4115	5997	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1165G>A	chr8.hg19:g.124992806G>A	ENSP00000428280:p.Glu389Lys	1538		Missense_Mutation	SNP	ENST00000522917.1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	35	5.527427	0.96431	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.83673	-1.75;-1.75	5.53	5.53	0.82687	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000003	D	0.91882	0.7430	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90993	0.4836	10	0.40728	T	0.16	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	389	Q2WGJ9	FR1L6_HUMAN	K	389	ENSP00000428280:E389K;ENSP00000381982:E389K	ENSP00000381982:E389K	E	+	1	0	FER1L6	125061987	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.813000	0.99286	2.607000	0.88179	0.655000	0.94253	GAA		0.512	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		A	124992806	G	A	124992806	3	1	88	1	0	0	0	0	1	0	0	0	5817	1175	41	2	1203	2	FER1L6	8	124992806	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	82014853	124992806	21371216	39	5878											
ZBTB5	9925	hgsc.bcm.edu	37	9	37441549	37441549	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:37441549G>T	ENST00000307750.4	-	2	1188	c.1000C>A	c.(1000-1002)Ctg>Atg	p.L334M		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GGTGAGCTCAGGGGCTCAGAT	0.522																																																0													103	94	97					9																	37441549		2203	4300	6503	SO:0001583	missense	9925			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1000C>A	chr9.hg19:g.37441549G>T	ENSP00000307604:p.Leu334Met			Missense_Mutation	SNP	ENST00000307750.4	hg19	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155723	0.38021	.	.	ENSG00000168795	ENST00000307750	T	0.16196	2.36	5.49	1.43	0.22495	.	0.167314	0.39985	N	0.001220	T	0.22360	0.0539	N	0.24115	0.695	0.48395	D	0.999648	D	0.71674	0.998	D	0.80764	0.994	T	0.01225	-1.1413	10	0.29301	T	0.29	.	10.2477	0.43352	0.3912:0.0:0.6088:0.0	.	334	O15062	ZBTB5_HUMAN	M	334	ENSP00000307604:L334M	ENSP00000307604:L334M	L	-	1	2	ZBTB5	37431549	0.995000	0.38212	0.998000	0.56505	0.932000	0.56968	1.979000	0.40608	0.457000	0.26962	-0.136000	0.14681	CTG		0.522	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		T	37441549	G	T	37441549	3	4	88	1	0	0	0	0	1	0	0	0	17556	991	35	4	1037	4	ZBTB5	9	37441549	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10		37441549	103771882	40	5879											
ABCA1	19	hgsc.bcm.edu	37	9	107578436	107578436	+	Silent	SNP	C	C	T	rs548468204	byFrequency	TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:107578436C>T	ENST00000374736.3	-	25	4120	c.3726G>A	c.(3724-3726)acG>acA	p.T1242T		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1242					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTTCCAGGGTCGTCTCTGAGA	0.483													C|||	4	0.000798722	0.0	0.0	5008	,	,		19115	0.0		0.0	False		,,,				2504	0.0041															0													166	178	174					9																	107578436		2203	4300	6503	SO:0001819	synonymous_variant	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3726G>A	chr9.hg19:g.107578436C>T			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	hg19	CCDS6762.1																																																																																				0.483	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107578436	C	T	107578436	2	4	88	1	0	0	0	0	0	0	0	1	28	871	31	1		1	ABCA1	9	107578436	Silent	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	70136887	107578436	33634995	41	5880											
COQ4	51117	hgsc.bcm.edu	37	9	131095205	131095205	+	Silent	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:131095205G>A	ENST00000300452.3	+	6	932	c.609G>A	c.(607-609)ccG>ccA	p.P203P	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119			coenzyme Q4											endometrium(4)|large_intestine(1)|lung(4)	9						TCTTTGGACCGATCCGACTTG	0.557																																																0													194	158	171					9																	131095205		2203	4300	6503	SO:0001819	synonymous_variant	51117			AF151850	CCDS6898.1	9q34.2	2013-10-18	2013-10-18		ENSG00000167113	ENSG00000167113			19693	protein-coding gene	gene with protein product		612898	"coenzyme Q4 homolog (yeast)", "coenzyme Q4 homolog (S. cerevisiae)"			11469793, 18474229	Standard	NM_016035		Approved	CGI-92	uc004bur.4	Q9Y3A0	OTTHUMG00000020743	ENST00000300452.3:c.609G>A	chr9.hg19:g.131095205G>A				Silent	SNP	ENST00000300452.3	hg19	CCDS6898.1																																																																																				0.557	COQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054427.1	NM_016035		A	131095205	G	A	131095205	2	1	88	1	0	0	0	0	0	0	0	1	3749	1045	37	1		1	COQ4	9	131095205	Silent	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	23516769	131095205	10118226	42	5881											
SURF2	6835	hgsc.bcm.edu	37	9	136227264	136227264	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:136227264G>T	ENST00000371964.4	+	5	682	c.641G>T	c.(640-642)aGg>aTg	p.R214M		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	214						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		GATGAGAGCAGGAGAGAGACG	0.557																																																0													131	111	118					9																	136227264		2203	4300	6503	SO:0001583	missense	6835				CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"surfeit locus protein 2"	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.641G>T	chr9.hg19:g.136227264G>T	ENSP00000361032:p.Arg214Met		Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	hg19	CCDS6967.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190148	0.38707	.	.	ENSG00000148291	ENST00000371964	T	0.33216	1.42	2.84	0.71	0.18157	.	0.792035	0.11077	N	0.602308	T	0.28566	0.0707	L	0.51422	1.61	0.09310	N	1	P	0.50710	0.938	P	0.45343	0.477	T	0.14227	-1.0480	10	0.54805	T	0.06	-4.7868	5.4059	0.16320	0.1238:0.2056:0.6706:0.0	.	214	Q15527	SURF2_HUMAN	M	214	ENSP00000361032:R214M	ENSP00000361032:R214M	R	+	2	0	SURF2	135217085	0.005000	0.15991	0.000000	0.03702	0.030000	0.12068	1.572000	0.36461	0.015000	0.14971	0.462000	0.41574	AGG		0.557	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		T	136227264	G	T	136227264	3	4	88	1	0	0	0	0	1	0	0	0	15409	1000	35	4	659	4	SURF2	9	136227264	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	5132059	136227264	4986167	43	5882											
NOTCH1	4851	hgsc.bcm.edu	37	9	139407915	139407915	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr9:139407915G>T	ENST00000277541.6	-	14	2357	c.2282C>A	c.(2281-2283)cCt>cAt	p.P761H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	761	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGACACAAGGGTTGGATTC	0.587			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													104	118	113					9																	139407915		2187	4274	6461	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2282C>A	chr9.hg19:g.139407915G>T	ENSP00000277541:p.Pro761His		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	hg19	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497270	0.64186	.	.	ENSG00000148400	ENST00000277541	D	0.93189	-3.18	4.76	4.76	0.60689	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97539	0.9194	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98725	1.0710	10	0.72032	D	0.01	.	16.7491	0.85480	0.0:0.0:1.0:0.0	.	761	P46531	NOTC1_HUMAN	H	761	ENSP00000277541:P761H	ENSP00000277541:P761H	P	-	2	0	NOTCH1	138527736	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	9.349000	0.97066	2.199000	0.70637	0.455000	0.32223	CCT		0.587	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		T	139407915	G	T	139407915	3	4	88	1	0	0	0	0	1	0	0	0	10549	1000	35	4	5469	4	NOTCH1	9	139407915	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	3180651	139407915	1805516	44	5883											
BMS1	9790	hgsc.bcm.edu	37	10	43294061	43294061	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr10:43294061G>T	ENST00000374518.5	+	12	2298	c.2235G>T	c.(2233-2235)tgG>tgT	p.W745C		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	745					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCATGACTGGGATTTAGAGG	0.428																																																0													91	97	95					10																	43294061		2203	4300	6503	SO:0001583	missense	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2235G>T	chr10.hg19:g.43294061G>T	ENSP00000363642:p.Trp745Cys		Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	hg19	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986911	0.74589	.	.	ENSG00000165733	ENST00000374518	T	0.53857	0.6	5.92	5.92	0.95590	.	0.060191	0.64402	D	0.000001	T	0.76314	0.3970	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77219	-0.2668	10	0.66056	D	0.02	.	20.3734	0.98896	0.0:0.0:1.0:0.0	.	745	Q14692	BMS1_HUMAN	C	745	ENSP00000363642:W745C	ENSP00000363642:W745C	W	+	3	0	BMS1	42614067	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.218000	0.95166	2.820000	0.97059	0.650000	0.86243	TGG		0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		T	43294061	G	T	43294061	3	4	88	1	0	0	0	0	1	0	0	0	1472	1241	43	4	2277	4	BMS1	10	43294061	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10		43294061	92240686	45	5884											
C10orf12	26148	hgsc.bcm.edu	37	10	98741939	98741939	+	Silent	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr10:98741939T>G	ENST00000286067.2	+	1	899	c.792T>G	c.(790-792)tcT>tcG	p.S264S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	264										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAATCACCTCTCACGAGGAAG	0.512																																																0													89	90	90					10																	98741939		2203	4300	6503	SO:0001819	synonymous_variant	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.792T>G	chr10.hg19:g.98741939T>G			Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	hg19	CCDS7452.1																																																																																				0.512	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		G	98741939	T	G	98741939	2	3	88	1	0	0	0	0	0	0	0	1	1591	1538	54	5		5	C10orf12	10	98741939	Silent	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	55447878	98741939	36792808	46	5885											
PDCD4	27250	hgsc.bcm.edu	37	10	112655819	112655819	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr10:112655819A>G	ENST00000280154.7	+	11	1597	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	PDCD4_ENST00000393104.2_Silent_p.K430K|MIR4680_ENST00000580906.1_RNA	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	441	MI 2. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TAATTTCCAAACAACTCAGAG	0.358																																					Ovarian(115;1498 1603 9363 40056 40885)											0													78	78	78					10																	112655819		2202	4300	6502	SO:0001819	synonymous_variant	27250			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.1323A>G	chr10.hg19:g.112655819A>G			B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Silent	SNP	ENST00000280154.7	hg19	CCDS7567.1																																																																																				0.358	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		G	112655819	A	G	112655819	2	3	88	1	0	0	0	0	0	0	0	1	11623	40	2	3		3	PDCD4	10	112655819	Silent	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	13913880	112655819	22878928	47	5886											
SLC22A10	387775	hgsc.bcm.edu	37	11	63065116	63065116	+	Silent	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:63065116A>T	ENST00000332793.6	+	4	749	c.747A>T	c.(745-747)ggA>ggT	p.G249G	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Silent_p.G94G|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_Silent_p.G39G	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	249						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TAATCCTGGGAGGCTTGGCTT	0.463																																																0													159	149	152					11																	63065116		1933	4127	6060	SO:0001819	synonymous_variant	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.747A>T	chr11.hg19:g.63065116A>T			Q68CJ0	Silent	SNP	ENST00000332793.6	hg19	CCDS41661.1																																																																																				0.463	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		T	63065116	A	T	63065116	2	4	88	1	0	0	0	0	0	0	0	1	14447	291	11	5		5	SLC22A10	11	63065116	Silent	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10		63065116	71941400	48	5887											
SLC22A10	387775	hgsc.bcm.edu	37	11	63071636	63071636	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:63071636A>G	ENST00000332793.6	+	8	1344	c.1342A>G	c.(1342-1344)Act>Gct	p.T448A	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Silent_p.L246L|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	448						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TTCTGCTGCTACTTTTTCCAG	0.483																																																0													212	217	215					11																	63071636		2073	4247	6320	SO:0001583	missense	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1342A>G	chr11.hg19:g.63071636A>G	ENSP00000327569:p.Thr448Ala		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	hg19	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.853818	0.00066	.	.	ENSG00000184999	ENST00000332793	T	0.74526	-0.85	3.05	-6.11	0.02131	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.214933	0.39020	N	0.001483	T	0.27594	0.0678	N	0.00525	-1.395	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.33137	-0.9880	10	0.05351	T	0.99	.	5.742	0.18100	0.3421:0.0:0.1242:0.5336	.	448	Q63ZE4	S22AA_HUMAN	A	448	ENSP00000327569:T448A	ENSP00000327569:T448A	T	+	1	0	SLC22A10	62828212	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.437000	0.01018	-3.799000	0.00105	-1.485000	0.00982	ACT		0.483	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		G	63071636	A	G	63071636	3	3	88	1	0	0	0	0	1	0	0	0	14447	391	14	3	1372	3	SLC22A10	11	63071636	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	6520	63071636	71934880	49	5888											
MAML2	84441	hgsc.bcm.edu	37	11	95825254	95825254	+	Silent	SNP	C	C	T	rs61749250		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:95825254C>T	ENST00000524717.1	-	2	3225	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	647					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q647Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgttgttgct	0.512			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)						C		0,4198		0,0,2099	35	40	38		1941	1.7	0.1	11	dbSNP_129	38	5,8237		0,5,4116	no	coding-synonymous	MAML2	NM_032427.1		0,5,6215	TT,TC,CC		0.0607,0.0,0.0402		647/1157	95825254	5,12435	2099	4121	6220	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1941G>A	chr11.hg19:g.95825254C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	hg19	CCDS44714.1																																																																																				0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825254	C	T	95825254	2	4	88	1	0	0	0	0	0	0	0	1	9208	796	28	2		2	MAML2	11	95825254	Silent	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	32753618	95825254	39181262	50	5889											
NPAT	4863	hgsc.bcm.edu	37	11	108043550	108043550	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:108043550C>T	ENST00000278612.8	-	13	2266	c.2161G>A	c.(2161-2163)Gat>Aat	p.D721N	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	721					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GGTTTATCATCAGTATTTTGG	0.428																																																0													120	110	113					11																	108043550		1892	4120	6012	SO:0001583	missense	4863			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2161G>A	chr11.hg19:g.108043550C>T	ENSP00000278612:p.Asp721Asn		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	hg19	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	1.672	-0.508824	0.04231	.	.	ENSG00000149308	ENST00000278612	T	0.03982	3.74	5.55	-1.3	0.09259	.	1.001340	0.08051	N	0.996678	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.49204	-0.8964	10	0.18710	T	0.47	3.2313	6.8937	0.24245	0.1138:0.3772:0.0:0.509	.	721;721	B9EG70;Q14207	.;NPAT_HUMAN	N	721	ENSP00000278612:D721N	ENSP00000278612:D721N	D	-	1	0	NPAT	107548760	0.145000	0.22656	0.022000	0.16811	0.316000	0.28119	0.773000	0.26661	-0.127000	0.11661	-0.136000	0.14681	GAT		0.428	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		T	108043550	C	T	108043550	3	4	88	1	0	0	0	0	1	0	0	0	10568	826	29	2	2146	2	NPAT	11	108043550	Missense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	12218296	108043550	26962966	51	5890											
BCL9L	283149	hgsc.bcm.edu	37	11	118773516	118773516	+	Silent	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr11:118773516C>A	ENST00000334801.3	-	6	1900	c.936G>T	c.(934-936)ccG>ccT	p.P312P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	312	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGCCAGGGGCCGGGGGTGGCG	0.731																																																0													5	7	6					11																	118773516		2014	4005	6019	SO:0001819	synonymous_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.936G>T	chr11.hg19:g.118773516C>A			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	hg19	CCDS8403.1																																																																																				0.731	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		A	118773516	C	A	118773516	2	1	88	1	0	0	0	0	0	0	0	1	1382	639	23	4		4	BCL9L	11	118773516	Silent	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	10729966	118773516	16233000	52	5891											
SOX5	6660	hgsc.bcm.edu	37	12	23757377	23757377	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:23757377A>G	ENST00000451604.2	-	9	1209	c.1108T>C	c.(1108-1110)Tct>Cct	p.S370P	SOX5_ENST00000545921.1_Missense_Mutation_p.S360P|SOX5_ENST00000381381.2_Missense_Mutation_p.S357P|SOX5_ENST00000537393.1_Missense_Mutation_p.S335P|SOX5_ENST00000541536.1_Missense_Mutation_p.S357P|SOX5_ENST00000546136.1_Missense_Mutation_p.S357P|SOX5_ENST00000309359.1_Missense_Mutation_p.S357P			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	370					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGGTAGGAGATACAGCAGCA	0.502																																																0													164	133	144					12																	23757377		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1108T>C	chr12.hg19:g.23757377A>G	ENSP00000398273:p.Ser370Pro		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	hg19	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520861	0.85495	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.97831	-4.54;-4.54;-4.24;-4.55;-4.56;-4.24;-4.55	6.16	6.16	0.99307	.	0.171135	0.53938	D	0.000045	D	0.98251	0.9421	M	0.64567	1.98	0.53688	D	0.999975	D;P;D	0.60160	0.987;0.945;0.978	P;D;P	0.68621	0.907;0.959;0.809	D	0.98503	1.0615	10	0.41790	T	0.15	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	335;357;370	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	P	357;357;357;370;322;335;357;360	ENSP00000437487:S357P;ENSP00000308927:S357P;ENSP00000370788:S357P;ENSP00000398273:S370P;ENSP00000439832:S335P;ENSP00000441973:S357P;ENSP00000443520:S360P	ENSP00000308927:S357P	S	-	1	0	SOX5	23648644	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.618000	0.67722	2.367000	0.80283	0.528000	0.53228	TCT		0.502	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		G	23757377	A	G	23757377	3	3	88	1	0	0	0	0	1	0	0	0	14960	333	12	3	1221	3	SOX5	12	23757377	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10		23757377	110094518	53	5892											
ADCY6	112	hgsc.bcm.edu	37	12	49168249	49168249	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:49168249G>A	ENST00000307885.4	-	13	2913	c.2219C>T	c.(2218-2220)gCa>gTa	p.A740V	ADCY6_ENST00000550422.1_Missense_Mutation_p.A740V|ADCY6_ENST00000357869.3_Missense_Mutation_p.A740V|ADCY6_ENST00000552090.1_5'UTR|MIR4701_ENST00000583094.1_RNA	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	740					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGTGCTATGTGCCCGTGAGCG	0.537																																																0													134	112	119					12																	49168249		2203	4300	6503	SO:0001583	missense	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2219C>T	chr12.hg19:g.49168249G>A	ENSP00000311405:p.Ala740Val		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	hg19	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103172	0.37145	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.39787	1.06;1.06;1.06	4.42	3.51	0.40186	.	0.303154	0.30820	N	0.008801	T	0.28896	0.0717	L	0.36672	1.1	0.28148	N	0.929491	B;B	0.26041	0.14;0.004	B;B	0.28139	0.086;0.01	T	0.18618	-1.0331	10	0.13470	T	0.59	.	8.2466	0.31693	0.202:0.0:0.798:0.0	.	740;740	O43306-2;O43306	.;ADCY6_HUMAN	V	740	ENSP00000350536:A740V;ENSP00000446730:A740V;ENSP00000311405:A740V	ENSP00000311405:A740V	A	-	2	0	ADCY6	47454516	0.679000	0.27596	1.000000	0.80357	0.892000	0.51952	2.661000	0.46758	0.963000	0.38082	0.561000	0.74099	GCA		0.537	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		A	49168249	G	A	49168249	3	1	88	1	0	0	0	0	1	0	0	0	298	1319	46	2	1323	2	ADCY6	12	49168249	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	25410872	49168249	84683646	54	5893											
HOXC4	3221	hgsc.bcm.edu	37	12	54447788	54447788	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:54447788T>A	ENST00000430889.2	+	1	128	c.82T>A	c.(82-84)Tac>Aac	p.Y28N	HOXC4_ENST00000303406.4_Missense_Mutation_p.Y28N|HOXC4_ENST00000609810.1_Missense_Mutation_p.Y28N	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	28					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GCAAAATAGCTACATCCCTGA	0.493																																																0													127	129	128					12																	54447788		2203	4300	6503	SO:0001583	missense	3221				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.82T>A	chr12.hg19:g.54447788T>A	ENSP00000399808:p.Tyr28Asn			Missense_Mutation	SNP	ENST00000430889.2	hg19	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.710126	0.68730	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.83992	-1.79;-1.79	3.41	3.41	0.39046	.	0.152719	0.44902	D	0.000404	D	0.92014	0.7470	M	0.92317	3.295	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.93212	0.6601	10	0.72032	D	0.01	.	11.785	0.52037	0.0:0.0:0.0:1.0	.	28	P09017	HXC4_HUMAN	N	28	ENSP00000305973:Y28N;ENSP00000399808:Y28N	ENSP00000305973:Y28N	Y	+	1	0	HOXC4	52734055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.592000	0.61027	1.775000	0.52247	0.379000	0.24179	TAC		0.493	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			A	54447788	T	A	54447788	3	1	88	1	0	0	0	0	1	0	0	0	7315	1522	53	5	84	5	HOXC4	12	54447788	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	5279539	54447788	79404107	55	5894											
GPR81	27198	hgsc.bcm.edu	37	12	123214112	123214112	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:123214112C>T	ENST00000436083.2	-	1	1278	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	HCAR1_ENST00000432564.1_Missense_Mutation_p.A259T|HCAR1_ENST00000356987.2_Missense_Mutation_p.A259T			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	259					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						ATGTGCAGGGCCCCATGGACA	0.522																																																0													81	81	81					12																	123214112		2203	4300	6503	SO:0001583	missense	27198			AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	4532	protein-coding gene	gene with protein product	"lactate receptor 1"	606923	"G protein-coupled receptor 104", "G protein-coupled receptor 81"	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.775G>A	chr12.hg19:g.123214112C>T	ENSP00000409980:p.Ala259Thr		B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	hg19	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864791	0.51482	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.38401	1.14;1.14;1.14	5.62	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.162482	0.38272	N	0.001754	T	0.50292	0.1607	L	0.55481	1.735	0.37418	D	0.913513	D	0.61697	0.99	D	0.64877	0.93	T	0.49872	-0.8893	10	0.33141	T	0.24	-12.0983	12.8086	0.57628	0.0:0.9183:0.0:0.0817	.	259	Q9BXC0	HCAR1_HUMAN	T	259	ENSP00000349478:A259T;ENSP00000389255:A259T;ENSP00000409980:A259T	ENSP00000349478:A259T	A	-	1	0	HCAR1	121780065	0.985000	0.35326	0.946000	0.38457	0.043000	0.13939	2.721000	0.47260	2.653000	0.90120	0.655000	0.94253	GCC		0.522	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			T	123214112	C	T	123214112	3	4	88	1	0	0	0	0	1	0	0	0	6713	739	26	2	269	2	GPR81	12	123214112	Missense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	68766324	123214112	10637783	56	5895											
GPR133	283383	hgsc.bcm.edu	37	12	131471648	131471648	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr12:131471648T>G	ENST00000261654.5	+	6	1058	c.499T>G	c.(499-501)Tgg>Ggg	p.W167G	GPR133_ENST00000535015.1_Missense_Mutation_p.W199G	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	167					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGGCCCCTATTGGACTCATGT	0.493																																																0													59	57	58					12																	131471648		2203	4300	6503	SO:0001583	missense	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.499T>G	chr12.hg19:g.131471648T>G	ENSP00000261654:p.Trp167Gly		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	hg19	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.826517	0.50739	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015	D;D;D	0.86769	-2.17;-2.17;-2.17	4.55	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.95634	0.8692	10	0.72032	D	0.01	.	13.1073	0.59253	0.0:0.0:0.0:1.0	.	199;167	B7ZLF7;Q6QNK2	.;GP133_HUMAN	G	167;107;199	ENSP00000261654:W167G;ENSP00000442501:W107G;ENSP00000444425:W199G	ENSP00000261654:W167G	W	+	1	0	GPR133	130037601	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	7.078000	0.76821	1.685000	0.51034	0.533000	0.62120	TGG		0.493	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		G	131471648	T	G	131471648	3	3	88	1	0	0	0	0	1	0	0	0	6645	1812	63	5	521	5	GPR133	12	131471648	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	8257536	131471648	2380247	57	5896											
COG6	57511	hgsc.bcm.edu	37	13	40251678	40251678	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr13:40251678A>G	ENST00000455146.3	+	5	552	c.502A>G	c.(502-504)Agt>Ggt	p.S168G	COG6_ENST00000416691.1_Missense_Mutation_p.S168G	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	168					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TGATGAAATGAGTCTTCTCCG	0.348																																																0													87	81	83					13																	40251678		2203	4300	6503	SO:0001583	missense	57511			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.502A>G	chr13.hg19:g.40251678A>G	ENSP00000397441:p.Ser168Gly		Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	hg19	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927586	0.34002	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.55588	0.51;0.51;0.51	5.78	-1.08	0.09936	.	0.333784	0.40640	N	0.001058	T	0.29321	0.0730	N	0.24115	0.695	0.28989	N	0.888159	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10989	-1.0606	10	0.22109	T	0.4	-11.1167	5.8826	0.18864	0.5582:0.1302:0.3116:0.0	.	189;168	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	G	168;199;168;168	ENSP00000403733:S168G;ENSP00000412877:S168G;ENSP00000397441:S168G	ENSP00000255468:S199G	S	+	1	0	COG6	39149678	1.000000	0.71417	0.941000	0.38009	0.875000	0.50365	2.795000	0.47861	-0.395000	0.07715	-0.334000	0.08254	AGT		0.348	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			G	40251678	A	G	40251678	3	3	88	1	0	0	0	0	1	0	0	0	3664	304	11	3	520	3	COG6	13	40251678	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10		40251678	74918200	58	5897											
IPO5	3843	hgsc.bcm.edu	37	13	98667795	98667795	+	Silent	SNP	A	A	T	rs61750357		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr13:98667795A>T	ENST00000490680.1	+	20	2402	c.2337A>T	c.(2335-2337)gtA>gtT	p.V779V	IPO5_ENST00000539640.1_Silent_p.V654V|IPO5_ENST00000261574.5_Silent_p.V797V			O00410	IPO5_HUMAN	importin 5	779					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GCATTGAAGTAATGGGAGATG	0.348																																																0													108	107	107					13																	98667795		2203	4300	6503	SO:0001819	synonymous_variant	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2337A>T	chr13.hg19:g.98667795A>T			B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.56	1.383369	0.25031	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.72	-3.39	0.04868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.1611	7.7355	0.28812	0.295:0.5469:0.06:0.0981	.	.	.	.	L	781	.	.	X	+	2	2	IPO5	97465796	0.965000	0.33210	0.966000	0.40874	0.996000	0.88848	0.136000	0.15974	-0.832000	0.04251	0.533000	0.62120	TAA		0.348	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		T	98667795	A	T	98667795	2	4	88	1	0	0	0	0	0	0	0	1	7798	349	13	5		5	IPO5	13	98667795	Silent	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	58416117	98667795	16502083	59	5898											
ATP11A	23250	hgsc.bcm.edu	37	13	113474213	113474213	+	Splice_Site	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr13:113474213G>A	ENST00000487903.1	+	8	762		c.e8-1		ATP11A_ENST00000375630.2_Splice_Site|ATP11A_ENST00000375645.3_Splice_Site|ATP11A_ENST00000283558.8_Splice_Site			P98196	AT11A_HUMAN	ATPase, class VI, type 11A						phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCTGTCGCCAGGTTCGTGGGT	0.637																																																0													125	89	101					13																	113474213		2203	4300	6503	SO:0001630	splice_region_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.675-1G>A	chr13.hg19:g.113474213G>A			Q5VXT2	Splice_Site	SNP	ENST00000487903.1	hg19	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927015	0.34002	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000418678	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8794	0.63674	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP11A	112522214	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	6.506000	0.73712	2.406000	0.81754	0.591000	0.81541	.		0.637	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	Intron	A	113474213	G	A	113474213	5	1	88	1	0	0	0	0	0	0	1	0	1119	1014	35	2	704	2	ATP11A	13	113474213	Splice_Site	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	14806418	113474213	1695665	60	5899											
ZSCAN29	146050	hgsc.bcm.edu	37	15	43653718	43653718	+	Silent	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr15:43653718T>C	ENST00000396976.2	-	5	2246	c.2112A>G	c.(2110-2112)aaA>aaG	p.K704K	ZSCAN29_ENST00000568898.1_Silent_p.K314K|ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Silent_p.K315K	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	704					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		ATTTATAAGGTTTCTCTCCAG	0.438																																																0													60	57	58					15																	43653718		2201	4299	6500	SO:0001819	synonymous_variant	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.2112A>G	chr15.hg19:g.43653718T>C			B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	ENST00000396976.2	hg19	CCDS10095.2																																																																																				0.438	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		C	43653718	T	C	43653718	2	2	88	1	0	0	0	0	0	0	0	1	18241	1722	60	3		3	ZSCAN29	15	43653718	Silent	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10		43653718	58877674	61	5900											
FAM154B	283726	hgsc.bcm.edu	37	15	82575198	82575198	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr15:82575198C>A	ENST00000339465.5	+	3	1061	c.992C>A	c.(991-993)aCa>aAa	p.T331K	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.T316K	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	331										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TTGATCCCAACAGAGAGTTGC	0.388																																																0													74	74	74					15																	82575198		2203	4300	6503	SO:0001583	missense	283726			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.992C>A	chr15.hg19:g.82575198C>A	ENSP00000340445:p.Thr331Lys		B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	hg19	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034412	0.35893	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.16743	2.32;2.32	4.22	3.28	0.37604	.	0.172782	0.36628	N	0.002496	T	0.36248	0.0960	M	0.82323	2.585	0.09310	N	0.999996	D;D	0.76494	0.999;0.984	D;P	0.68765	0.96;0.881	T	0.24693	-1.0153	10	0.14656	T	0.56	-8.4012	8.8098	0.34961	0.0:0.7627:0.1525:0.0849	.	316;331	B4E2M2;Q658L1	.;F154B_HUMAN	K	331;316	ENSP00000340445:T331K;ENSP00000403743:T316K	ENSP00000340445:T331K	T	+	2	0	FAM154B	80362253	0.114000	0.22134	0.015000	0.15790	0.341000	0.28922	0.879000	0.28146	0.867000	0.35654	0.404000	0.27445	ACA		0.388	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		A	82575198	C	A	82575198	3	1	88	1	0	0	0	0	1	0	0	0	5466	478	17	4	1002	4	FAM154B	15	82575198	Missense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	38921480	82575198	19956194	62	5901											
ALPK3	57538	hgsc.bcm.edu	37	15	85407685	85407685	+	Silent	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr15:85407685G>A	ENST00000258888.5	+	12	5285	c.5118G>A	c.(5116-5118)ctG>ctA	p.L1706L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1706	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCATCCCACTGTATCTGATCT	0.512																																																0													94	84	87					15																	85407685		2203	4299	6502	SO:0001819	synonymous_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5118G>A	chr15.hg19:g.85407685G>A			Q9P2L6	Silent	SNP	ENST00000258888.5	hg19	CCDS10333.1																																																																																				0.512	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		A	85407685	G	A	85407685	2	1	88	1	0	0	0	0	0	0	0	1	546	1364	48	2		2	ALPK3	15	85407685	Silent	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	2832487	85407685	17123707	63	5902											
NDUFB10	4716	hgsc.bcm.edu	37	16	2011289	2011289	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr16:2011289A>T	ENST00000268668.6	+	2	383	c.266A>T	c.(265-267)gAc>gTc	p.D89V	SNORA64_ENST00000384674.1_RNA|SNORA10_ENST00000384084.1_RNA|NDUFB10_ENST00000543683.2_Missense_Mutation_p.D89V|NDUFB10_ENST00000569148.1_Intron	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	89					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)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						TGGAAGAGGGACTAGTACGTG	0.567																																																0													194	142	160					16																	2011289		2199	4300	6499	SO:0001583	missense	4716			AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"Mitochondrial respiratory chain complex / Complex I"	7696	protein-coding gene	gene with protein product	"complex I PDSW subunit"	603843	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.266A>T	chr16.hg19:g.2011289A>T	ENSP00000268668:p.Asp89Val		Q96II6	Missense_Mutation	SNP	ENST00000268668.6	hg19	CCDS10451.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.519366	0.64634	.	.	ENSG00000140990	ENST00000268668;ENST00000543683	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85631	0.1270	9	0.87932	D	0	-38.553	14.1338	0.65273	1.0:0.0:0.0:0.0	.	89;89	Q96II6;O96000	.;NDUBA_HUMAN	V	89	.	ENSP00000268668:D89V	D	+	2	0	NDUFB10	1951290	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	8.564000	0.90726	1.936000	0.56123	0.533000	0.62120	GAC		0.567	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548		T	2011289	A	T	2011289	3	4	88	1	0	0	0	0	1	0	0	0	10281	275	10	5	272	5	NDUFB10	16	2011289	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10		2011289	88343464	64	5903											
TRAP1	10131	hgsc.bcm.edu	37	16	3712967	3712967	+	Splice_Site	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr16:3712967G>A	ENST00000246957.5	-	15	1798	c.1710C>T	c.(1708-1710)gcC>gcT	p.A570A	DNASE1_ENST00000575152.1_3'UTR|TRAP1_ENST00000538171.1_Splice_Site_p.A517A|DNASE1_ENST00000414110.2_Intron|TRAP1_ENST00000575671.1_Splice_Site_p.A361A	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	570					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GGCACTCGGCGGCTGCGGAAG	0.642																																																0													60	46	51					16																	3712967		2197	4300	6497	SO:0001630	splice_region_variant	10131			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1709-1C>T	chr16.hg19:g.3712967G>A			B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Silent	SNP	ENST00000246957.5	hg19	CCDS10508.1																																																																																				0.642	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292	Silent	A	3712967	G	A	3712967	5	1	88	1	0	0	0	0	0	0	1	0	16460	1130	39	1	420	1	TRAP1	16	3712967	Splice_Site	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	1701678	3712967	86641786	65	5904											
ZZEF1	23140	hgsc.bcm.edu	37	17	3980188	3980189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:3980188_3980189insT	ENST00000381638.2	-	20	3208_3209	c.3084_3085insA	c.(3082-3087)tcagtgfs	p.V1029fs	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1029							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATTGAAAACACTGAGTTACATA	0.47																																																0																																										SO:0001589	frameshift_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3085dupA	chr17.hg19:g.3980189_3980189dupT	ENSP00000371051:p.Val1029fs		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Frame_Shift_Ins	INS	ENST00000381638.2	hg19	CCDS11043.1																																																																																				0.47	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		T	3980189	-	T	3980188	7	5	88	1	0	1	1	0	0	0	0	0	18260	565	20	0	5944	0	ZZEF1	17	3980188	Frame_Shift_Ins	INS	-	TCGA-A4-A6HP-01A-11D-A31X-10		3980188	77215022	66	5905											
KDM6B	23135	hgsc.bcm.edu	37	17	7748926	7748926	+	Silent	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:7748926C>A	ENST00000448097.2	+	4	385	c.54C>A	c.(52-54)gcC>gcA	p.A18A	KDM6B_ENST00000254846.5_Silent_p.A18A			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	18					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AAGCCTTTGCCCTTGGGGGCC	0.642																																																0													56	59	58					17																	7748926		2203	4300	6503	SO:0001819	synonymous_variant	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.54C>A	chr17.hg19:g.7748926C>A			C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	hg19																																																																																					0.642	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		A	7748926	C	A	7748926	2	1	88	1	0	0	0	0	0	0	0	1	8140	610	22	4		4	KDM6B	17	7748926	Silent	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	3768738	7748926	73446284	67	5906											
ELAC2	60528	hgsc.bcm.edu	37	17	12898190	12898190	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:12898190A>G	ENST00000338034.4	-	21	2159	c.1920T>C	c.(1918-1920)tgT>tgC	p.C640C	ELAC2_ENST00000395962.2_Silent_p.C621C|ELAC2_ENST00000426905.3_Silent_p.C600C	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	640					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCCGCACCAGACAGGTCTGAA	0.622																																																0													72	78	76					17																	12898190		2203	4300	6503	SO:0001819	synonymous_variant	60528			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1920T>C	chr17.hg19:g.12898190A>G			B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	hg19	CCDS11164.1																																																																																				0.622	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			G	12898190	A	G	12898190	2	3	88	1	0	0	0	0	0	0	0	1	5049	273	10	3		3	ELAC2	17	12898190	Silent	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	5149264	12898190	68297020	68	5907											
TBC1D28	254272	hgsc.bcm.edu	37	17	18541949	18541949	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:18541949A>G	ENST00000345096.4	-	6	963	c.264T>C	c.(262-264)taT>taC	p.Y88Y	TBC1D28_ENST00000405044.1_Silent_p.Y88Y			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	88							Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						TGGTGCTCCTATATTTTGTCC	0.542																																																0													120	117	118					17																	18541949		1942	4126	6068	SO:0001819	synonymous_variant	254272				CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.264T>C	chr17.hg19:g.18541949A>G			Q2M2E1	Silent	SNP	ENST00000345096.4	hg19	CCDS42273.1																																																																																				0.542	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397		G	18541949	A	G	18541949	2	3	88	1	0	0	0	0	0	0	0	1	15622	456	16	3		3	TBC1D28	17	18541949	Silent	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	5643759	18541949	62653261	69	5908											
MSL1	339287	hgsc.bcm.edu	37	17	38282491	38282491	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:38282491A>G	ENST00000398532.4	+	2	1139	c.824A>G	c.(823-825)aAc>aGc	p.N275S	MSL1_ENST00000578648.1_Missense_Mutation_p.N275S|MSL1_ENST00000577454.1_Missense_Mutation_p.N275S|MSL1_ENST00000579565.1_Missense_Mutation_p.N12S	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	275					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						AAGAAGGATAACGAGAAAGAA	0.428																																																0													98	98	98					17																	38282491		1949	4139	6088	SO:0001583	missense	339287				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.824A>G	chr17.hg19:g.38282491A>G	ENSP00000381543:p.Asn275Ser		Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	hg19		.	.	.	.	.	.	.	.	.	.	A	11.43	1.637733	0.29157	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	5.79	5.79	0.91817	.	0.270557	0.44688	D	0.000434	T	0.22820	0.0551	N	0.19112	0.55	0.26940	N	0.966276	B	0.16396	0.017	B	0.18263	0.021	T	0.28776	-1.0033	9	0.05436	T	0.98	-11.0278	8.4872	0.33078	0.8546:0.0:0.1454:0.0	.	275	Q68DK7	MSL1_HUMAN	S	12;275	.	ENSP00000341409:N12S	N	+	2	0	MSL1	35536017	0.994000	0.37717	1.000000	0.80357	0.965000	0.64279	2.451000	0.44952	2.208000	0.71279	0.533000	0.62120	AAC		0.428	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		G	38282491	A	G	38282491	3	3	88	1	0	0	0	0	1	0	0	0	9879	43	2	3	37	3	MSL1	17	38282491	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	19740542	38282491	42912719	70	5909											
C17orf64	124773	hgsc.bcm.edu	37	17	58503225	58503225	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr17:58503225G>A	ENST00000269127.4	+	2	217	c.133G>A	c.(133-135)Gat>Aat	p.D45N		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	45										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CAAGGGCCTGGATCAGGACAC	0.587																																																0													49	50	50					17																	58503225		692	1591	2283	SO:0001583	missense	124773			BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.133G>A	chr17.hg19:g.58503225G>A	ENSP00000269127:p.Asp45Asn		Q8IY87	Missense_Mutation	SNP	ENST00000269127.4	hg19	CCDS32698.2	.	.	.	.	.	.	.	.	.	.	G	8.915	0.959686	0.18507	.	.	ENSG00000141371	ENST00000428000;ENST00000269127	.	.	.	5.8	1.57	0.23409	.	1.190680	0.06014	N	0.650076	T	0.35422	0.0931	L	0.38838	1.175	0.09310	N	0.999999	B	0.22983	0.078	B	0.25614	0.062	T	0.35475	-0.9787	9	0.51188	T	0.08	0.2409	8.0582	0.30617	0.4133:0.0:0.5867:0.0	.	45	Q86WR6	CQ064_HUMAN	N	39;45	.	ENSP00000269127:D45N	D	+	1	0	C17orf64	55858007	0.078000	0.21339	0.143000	0.22291	0.070000	0.16714	0.157000	0.16402	0.087000	0.17167	-0.136000	0.14681	GAT		0.587	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707		A	58503225	G	A	58503225	3	1	88	1	0	0	0	0	1	0	0	0	1874	1174	41	2	139	2	C17orf64	17	58503225	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10	20220734	58503225	22691985	71	5910											
PIAS2	9063	hgsc.bcm.edu	37	18	44416377	44416377	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr18:44416377G>A	ENST00000585916.1	-	9	1144	c.1145C>T	c.(1144-1146)aCc>aTc	p.T382I	PIAS2_ENST00000545673.1_Missense_Mutation_p.T92I|PIAS2_ENST00000324794.7_Missense_Mutation_p.T382I	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	382					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ACAAATCCAGGTGGGCTTTTT	0.408																																																0													118	114	115					18																	44416377		2203	4300	6503	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1145C>T	chr18.hg19:g.44416377G>A	ENSP00000465676:p.Thr382Ile		O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	hg19	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124311	0.94429	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000545673;ENST00000324794	T;T	0.53640	0.61;1.12	5.62	5.62	0.85841	Zinc finger, MIZ-type (2);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.87038	2.855	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.996;1.0;0.994;0.992;1.0	T	0.78971	-0.1993	10	0.87932	D	0	-11.3089	19.6407	0.95757	0.0:0.0:1.0:0.0	.	92;386;382;382;382	B4DGW0;O75928-3;Q2TA77;O75928-2;O75928	.;.;.;.;PIAS2_HUMAN	I	382;382;378;92;382	ENSP00000443238:T92I;ENSP00000317163:T382I	ENSP00000262161:T382I	T	-	2	0	PIAS2	42670375	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.864000	0.99589	2.640000	0.89533	0.460000	0.39030	ACC		0.408	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		A	44416377	G	A	44416377	3	1	88	1	0	0	0	0	1	0	0	0	11878	1261	44	2	819	2	PIAS2	18	44416377	Missense_Mutation	SNP	G	TCGA-A4-A6HP-01A-11D-A31X-10		44416377	33660871	72	5911											
ILVBL	10994	hgsc.bcm.edu	37	19	15226103	15226103	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:15226103A>G	ENST00000263383.3	-	16	1998	c.1859T>C	c.(1858-1860)aTt>aCt	p.I620T	ILVBL_ENST00000534378.1_Missense_Mutation_p.I513T	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	620						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CGTCCTCCCAATGAGGATGTT	0.607																																																0													138	103	115					19																	15226103		2203	4300	6503	SO:0001583	missense	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1859T>C	chr19.hg19:g.15226103A>G	ENSP00000263383:p.Ile620Thr		O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	hg19	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905085	0.72868	.	.	ENSG00000105135	ENST00000263383	T	0.42900	0.96	5.37	5.37	0.77165	.	0.056671	0.64402	D	0.000002	T	0.58264	0.2110	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	D	0.63877	0.919	T	0.59542	-0.7435	10	0.46703	T	0.11	-18.752	11.7697	0.51951	1.0:0.0:0.0:0.0	.	620	A1L0T0	ILVBL_HUMAN	T	620	ENSP00000263383:I620T	ENSP00000263383:I620T	I	-	2	0	ILVBL	15087103	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	6.822000	0.75277	2.044000	0.60594	0.533000	0.62120	ATT		0.607	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		G	15226103	A	G	15226103	3	3	88	1	0	0	0	0	1	0	0	0	7717	101	4	3	43	3	ILVBL	19	15226103	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10		15226103	43902880	73	5912											
ZNF536	9745	hgsc.bcm.edu	37	19	31040126	31040126	+	Missense_Mutation	SNP	C	C	G	rs545401755		TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:31040126C>G	ENST00000355537.3	+	4	3747	c.3600C>G	c.(3598-3600)gaC>gaG	p.D1200E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1200					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGCAAAGACAGCAGCAGCG	0.592																																																0													62	63	63					19																	31040126		2203	4300	6503	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3600C>G	chr19.hg19:g.31040126C>G	ENSP00000347730:p.Asp1200Glu		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	0.147	-1.095522	0.01858	.	.	ENSG00000198597	ENST00000355537	T	0.08546	3.08	5.59	3.11	0.35812	.	0.444542	0.25789	N	0.028284	T	0.03871	0.0109	N	0.12746	0.255	0.21675	N	0.999597	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44298	-0.9337	10	0.13108	T	0.6	-38.7005	6.6261	0.22830	0.2337:0.5954:0.0:0.1709	.	1200;1200	A7E228;O15090	.;ZN536_HUMAN	E	1200	ENSP00000347730:D1200E	ENSP00000347730:D1200E	D	+	3	2	ZNF536	35731966	0.207000	0.23482	0.966000	0.40874	0.051000	0.14879	0.146000	0.16180	1.319000	0.45190	0.655000	0.94253	GAC		0.592	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		G	31040126	C	G	31040126	3	3	88	1	0	0	0	0	1	0	0	0	17979	477	17	4	3610	4	ZNF536	19	31040126	Missense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	15814023	31040126	28088857	74	5913											
ZNF146	7705	hgsc.bcm.edu	37	19	36727612	36727612	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:36727612C>A	ENST00000443387.2	+	4	1262	c.270C>A	c.(268-270)caC>caA	p.H90Q	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.H90Q	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	90					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TCCTTACGCACCAGAAAATTC	0.403																																																0													67	72	70					19																	36727612		2203	4300	6503	SO:0001583	missense	7705			X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"Zinc fingers, C2H2-type"	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.270C>A	chr19.hg19:g.36727612C>A	ENSP00000392095:p.His90Gln		Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	hg19	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870414	0.51588	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	D;D	0.86865	-2.18;-2.18	4.46	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41396	D	0.000891	D	0.94135	0.8119	H	0.95402	3.665	0.33426	D	0.580462	D	0.62365	0.991	D	0.73708	0.981	D	0.94447	0.7664	10	0.87932	D	0	-10.1539	6.9293	0.24432	0.0:0.2248:0.0:0.7752	.	90	Q15072	OZF_HUMAN	Q	90	ENSP00000392095:H90Q;ENSP00000400391:H90Q	ENSP00000392095:H90Q	H	+	3	2	ZNF146	41419452	0.874000	0.30092	1.000000	0.80357	0.991000	0.79684	-0.067000	0.11579	0.946000	0.37632	-0.355000	0.07637	CAC		0.403	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		A	36727612	C	A	36727612	3	1	88	1	0	0	0	0	1	0	0	0	17738	506	18	4	272	4	ZNF146	19	36727612	Missense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	5687486	36727612	22401371	75	5914											
GYS1	2997	hgsc.bcm.edu	37	19	49485593	49485593	+	Silent	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:49485593A>G	ENST00000323798.3	-	7	1177	c.981T>C	c.(979-981)ttT>ttC	p.F327F	GYS1_ENST00000541188.1_Silent_p.F247F|GYS1_ENST00000263276.6_Silent_p.F263F|GYS1_ENST00000540532.1_Missense_Mutation_p.L208S|GYS1_ENST00000544287.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	327					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GGCCGGCGATAAAGAAGTATA	0.542																																																0													88	79	82					19																	49485593		2203	4300	6503	SO:0001819	synonymous_variant	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.981T>C	chr19.hg19:g.49485593A>G			Q9BTT9	Silent	SNP	ENST00000323798.3	hg19	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821993	0.50739	.	.	ENSG00000104812	ENST00000540532	T	0.27890	1.64	5.1	-3.84	0.04256	.	.	.	.	.	T	0.34366	0.0895	.	.	.	0.22754	N	0.998773	.	.	.	.	.	.	T	0.42965	-0.9420	6	0.41790	T	0.15	-14.4659	15.6467	0.77061	0.234:0.0:0.766:0.0	.	.	.	.	S	208	ENSP00000445197:L208S	ENSP00000445197:L208S	L	-	2	0	GYS1	54177405	1.000000	0.71417	0.849000	0.33467	0.997000	0.91878	1.654000	0.37334	-0.742000	0.04790	0.528000	0.53228	TTA		0.542	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		G	49485593	A	G	49485593	2	3	88	1	0	0	0	0	0	0	0	1	6914	359	13	3		3	GYS1	19	49485593	Silent	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	12757981	49485593	9643390	76	5915											
TMEM86B	255043	hgsc.bcm.edu	37	19	55740079	55740079	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr19:55740079T>C	ENST00000327042.4	-	1	553	c.31A>G	c.(31-33)Aag>Gag	p.K11E	AC010327.2_ENST00000598855.1_3'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	11					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CAGTGAGTCTTCAGGGTCTGC	0.672																																																0													25	26	26					19																	55740079		2203	4299	6502	SO:0001583	missense	255043			BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.31A>G	chr19.hg19:g.55740079T>C	ENSP00000321038:p.Lys11Glu			Missense_Mutation	SNP	ENST00000327042.4	hg19	CCDS12920.1	.	.	.	.	.	.	.	.	.	.	T	8.776	0.926998	0.18056	.	.	ENSG00000180089	ENST00000327042	T	0.22743	1.94	4.76	-1.37	0.09056	.	2.056380	0.01961	N	0.043375	T	0.12944	0.0314	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31223	-0.9951	10	0.33940	T	0.23	.	11.2263	0.48886	0.0:0.5941:0.0:0.4059	.	11	Q8N661	TM86B_HUMAN	E	11	ENSP00000321038:K11E	ENSP00000321038:K11E	K	-	1	0	TMEM86B	60431891	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.228000	0.09114	-0.525000	0.06391	0.379000	0.24179	AAG		0.672	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452659.1	NM_173804		C	55740079	T	C	55740079	3	2	88	1	0	0	0	0	1	0	0	0	16214	1792	62	3	661	3	TMEM86B	19	55740079	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	6254486	55740079	3388904	77	5916											
AHCY	191	hgsc.bcm.edu	37	20	32878681	32878681	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr20:32878681C>T	ENST00000217426.2	-	6	699	c.622G>A	c.(622-624)Gat>Aat	p.D208N	AHCY_ENST00000538132.1_Missense_Mutation_p.D180N|AHCY_ENST00000468908.1_5'Flank	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	208					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCATCACATCTGTGGCCCGC	0.587																																																0													50	47	48					20																	32878681		2203	4300	6503	SO:0001583	missense	191			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"S-adenosylhomocysteine hydrolase"			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.622G>A	chr20.hg19:g.32878681C>T	ENSP00000217426:p.Asp208Asn		A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	hg19	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766291	0.90020	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.79352	-1.23;-1.26	4.74	3.78	0.43462	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.089011	0.85682	D	0.000000	D	0.86218	0.5880	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.88144	0.2846	10	0.87932	D	0	.	15.2705	0.73696	0.0:0.859:0.141:0.0	.	208	P23526	SAHH_HUMAN	N	208;180	ENSP00000217426:D208N;ENSP00000442820:D180N	ENSP00000217426:D208N	D	-	1	0	AHCY	32342342	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	7.529000	0.81952	1.333000	0.45449	0.561000	0.74099	GAT		0.587	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		T	32878681	C	T	32878681	3	4	88	1	0	0	0	0	1	0	0	0	409	913	32	2	696	2	AHCY	20	32878681	Missense_Mutation	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10		32878681	30146839	78	5917											
KIAA1755	85449	hgsc.bcm.edu	37	20	36874404	36874404	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr20:36874404T>C	ENST00000279024.4	-	2	399	c.128A>G	c.(127-129)gAt>gGt	p.D43G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	43										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTCAGCCCATCCCCCTGGAA	0.602																																																0													76	67	70					20																	36874404		2203	4300	6503	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.128A>G	chr20.hg19:g.36874404T>C	ENSP00000279024:p.Asp43Gly		Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	hg19	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846553	0.91277	.	.	ENSG00000149633	ENST00000279024	T	0.39056	1.1	5.4	5.4	0.78164	.	0.000000	0.50627	D	0.000112	T	0.66607	0.2806	M	0.81942	2.565	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.71583	-0.4549	10	0.72032	D	0.01	.	14.9112	0.70758	0.0:0.0:0.0:1.0	.	43	Q5JYT7	K1755_HUMAN	G	43	ENSP00000279024:D43G	ENSP00000279024:D43G	D	-	2	0	KIAA1755	36307818	1.000000	0.71417	0.899000	0.35326	0.867000	0.49689	7.984000	0.88150	2.172000	0.68678	0.533000	0.62120	GAT		0.602	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		C	36874404	T	C	36874404	3	2	88	1	0	0	0	0	1	0	0	0	8259	1435	50	3	3526	3	KIAA1755	20	36874404	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10	3995723	36874404	26151116	79	5918											
SLC13A3	64849	hgsc.bcm.edu	37	20	45217868	45217868	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr20:45217868A>G	ENST00000279027.4	-	7	965	c.947T>C	c.(946-948)aTa>aCa	p.I316T	SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000472148.1_Missense_Mutation_p.I269T|SLC13A3_ENST00000396360.1_Missense_Mutation_p.I269T|SLC13A3_ENST00000413164.2_Missense_Mutation_p.I266T|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000290317.5_Missense_Mutation_p.I269T|SLC13A3_ENST00000495082.1_Missense_Mutation_p.I269T|SLC13A3_ENST00000372121.1_Missense_Mutation_p.I266T	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	316					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATTGGTTCTTATCTCAGATTT	0.488																																																0													115	114	114					20																	45217868		2203	4300	6503	SO:0001583	missense	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.947T>C	chr20.hg19:g.45217868A>G	ENSP00000279027:p.Ile316Thr		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	hg19	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	A	0.563	-0.844580	0.02671	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121	T;T;T;T;T;T;T;T;T	0.10099	3.84;3.75;4.1;3.75;3.57;3.84;3.26;2.92;2.91	5.84	4.74	0.60224	.	1.055960	0.07196	N	0.856503	T	0.10981	0.0268	L	0.27053	0.805	0.28449	N	0.916409	P;B;P;P	0.42161	0.772;0.128;0.515;0.571	B;B;B;B	0.43701	0.428;0.144;0.22;0.328	T	0.15178	-1.0446	10	0.13470	T	0.59	-3.1173	10.4316	0.44411	0.9264:0.0:0.0736:0.0	.	266;269;269;316	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	T	269;269;316;269;266;269;269;229;266	ENSP00000290317:I269T;ENSP00000379648:I269T;ENSP00000279027:I316T;ENSP00000420177:I269T;ENSP00000415852:I266T;ENSP00000419621:I269T;ENSP00000417784:I269T;ENSP00000395095:I229T;ENSP00000361193:I266T	ENSP00000279027:I316T	I	-	2	0	SLC13A3	44651275	0.575000	0.26692	0.001000	0.08648	0.055000	0.15305	3.364000	0.52328	1.044000	0.40200	0.529000	0.55759	ATA		0.488	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			G	45217868	A	G	45217868	3	3	88	1	0	0	0	0	1	0	0	0	14399	449	16	3	889	3	SLC13A3	20	45217868	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10	8343464	45217868	17807652	80	5919											
MTMR3	8897	hgsc.bcm.edu	37	22	30403186	30403186	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr22:30403186A>C	ENST00000401950.2	+	10	1097	c.755A>C	c.(754-756)cAt>cCt	p.H252P	MTMR3_ENST00000323630.5_Missense_Mutation_p.H116P|MTMR3_ENST00000333027.3_Missense_Mutation_p.H252P|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.H252P|MTMR3_ENST00000406629.1_Missense_Mutation_p.H252P	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	252	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GATGATGAGCATCTGGTACAG	0.547																																																0													94	87	89					22																	30403186		2203	4300	6503	SO:0001583	missense	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.755A>C	chr22.hg19:g.30403186A>C	ENSP00000384651:p.His252Pro		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	hg19	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872970	0.91664	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.87	5.87	0.94306	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.087453	0.85682	D	0.000000	D	0.95310	0.8478	M	0.69823	2.125	0.80722	D	1	D;P;D	0.69078	0.997;0.931;0.997	D;P;D	0.66847	0.947;0.781;0.947	D	0.95552	0.8621	10	0.66056	D	0.02	.	15.4554	0.75308	1.0:0.0:0.0:0.0	.	252;252;252	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	P	252;252;116;252;252	ENSP00000384651:H252P;ENSP00000331649:H252P;ENSP00000318070:H116P;ENSP00000307271:H252P;ENSP00000384077:H252P	ENSP00000318070:H116P	H	+	2	0	MTMR3	28733186	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.962000	0.93254	2.253000	0.74438	0.533000	0.62120	CAT		0.547	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		C	30403186	A	C	30403186	3	2	88	1	0	0	0	0	1	0	0	0	9947	217	8	5	785	5	MTMR3	22	30403186	Missense_Mutation	SNP	A	TCGA-A4-A6HP-01A-11D-A31X-10		30403186	20901380	81	5920											
CARD10	29775	hgsc.bcm.edu	37	22	37898635	37898635	+	Silent	SNP	C	C	G			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chr22:37898635C>G	ENST00000403299.1	-	12	1977	c.1761G>C	c.(1759-1761)cgG>cgC	p.R587R	CARD10_ENST00000406271.3_Silent_p.R301R|CARD10_ENST00000251973.5_Silent_p.R587R			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	587					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGCCACAGCCCCGAGCCAGGA	0.617																																																0													54	48	50					22																	37898635		2203	4300	6503	SO:0001819	synonymous_variant	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1761G>C	chr22.hg19:g.37898635C>G			Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	hg19	CCDS13948.1																																																																																				0.617	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		G	37898635	C	G	37898635	2	3	88	1	0	0	0	0	0	0	0	1	2646	610	22	4		4	CARD10	22	37898635	Silent	SNP	C	TCGA-A4-A6HP-01A-11D-A31X-10	7495449	37898635	13405931	82	5921											
SLC6A8	6535	hgsc.bcm.edu	37	X	152958793	152958793	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A6HP-01A-11D-A31X-10	TCGA-A4-A6HP-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d1845e20-13c6-473e-a607-d5010b214486	1fbfe3f1-dbc6-4e89-a9f6-0adbf2672b92	g.chrX:152958793T>C	ENST00000253122.5	+	6	1464	c.988T>C	c.(988-990)Tac>Cac	p.Y330H	SLC6A8_ENST00000430077.2_Missense_Mutation_p.Y215H|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	330					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCTGGGCAGCTACAACCGCTT	0.632																																																0													45	49	48					X																	152958793		2203	4300	6503	SO:0001583	missense	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.988T>C	chrX.hg19:g.152958793T>C	ENSP00000253122:p.Tyr330His		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	hg19	CCDS14726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	26.1|26.1	4.700265|4.700265	0.88924|0.88924	.|.	.|.	ENSG00000130821|ENSG00000130821	ENST00000413787|ENST00000253122;ENST00000430077;ENST00000328897	T|D;D	0.79653|0.84516	-1.29|-1.86;-1.86	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.64402	.|U	.|0.000003	D|D	0.92980|0.92980	0.7766|0.7766	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.993	D|D	0.94080|0.94080	0.7343|0.7343	7|10	0.87932|0.87932	D|D	0|0	.|.	12.9947|12.9947	0.58640|0.58640	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|349;330	.|Q59EV7;P48029	.|.;SC6A8_HUMAN	P|H	45|330;215;336	ENSP00000400463:L45P|ENSP00000253122:Y330H;ENSP00000403041:Y215H	ENSP00000400463:L45P|ENSP00000253122:Y330H	L|Y	+|+	2|1	0|0	SLC6A8|SLC6A8	152611987|152611987	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.753000|7.753000	0.85153|0.85153	1.914000|1.914000	0.55421|0.55421	0.430000|0.430000	0.28490|0.28490	CTA|TAC		0.632	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			C	152958793	T	C	152958793	3	2	88	1	0	0	0	0	1	0	0	0	14696	1522	53	3	1010	3	SLC6A8	23	152958793	Missense_Mutation	SNP	T	TCGA-A4-A6HP-01A-11D-A31X-10		152958793	2311767	83	5922											
NRD1	4898	hgsc.bcm.edu	37	1	52260504	52260504	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr1:52260504T>C	ENST00000354831.7	-	25	3020	c.2831A>G	c.(2830-2832)tAt>tGt	p.Y944C	RP4-657D16.3_ENST00000591675.1_RNA|NRD1_ENST00000352171.7_Missense_Mutation_p.Y876C|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_3'UTR|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000539524.1_Missense_Mutation_p.Y812C|RP4-657D16.3_ENST00000588291.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	875					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CTCAACAACATATTTCAGGAA	0.368																																																0													84	88	87					1																	52260504		2203	4300	6503	SO:0001583	missense	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2831A>G	chr1.hg19:g.52260504T>C	ENSP00000346890:p.Tyr944Cys		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	hg19	CCDS559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.59|14.59	2.581623|2.581623	0.46006|0.46006	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000440943|ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	.|T;T;T	.|0.07800	.|3.16;3.16;3.16	5.65|5.65	4.51|4.51	0.55191|0.55191	.|Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	.|0.120475	.|0.64402	.|D	.|0.000018	T|T	0.09598|0.09598	0.0236|0.0236	L|L	0.43701|0.43701	1.375|1.375	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.27264	.|0.076;0.094;0.173	.|B;B;B	.|0.30105	.|0.037;0.063;0.111	T|T	0.10800|0.10800	-1.0614|-1.0614	5|10	.|0.40728	.|T	.|0.16	-7.7067|-7.7067	12.2317|12.2317	0.54492|0.54492	0.1275:0.0:0.0:0.8725|0.1275:0.0:0.0:0.8725	.|.	.|876;875;944	.|F5H6R2;O43847;B1AKJ5	.|.;NRDC_HUMAN;.	M|C	290|876;944;812;306;876	.|ENSP00000262679:Y876C;ENSP00000346890:Y944C;ENSP00000444416:Y812C	.|ENSP00000262679:Y876C	I|Y	-|-	3|2	3|0	NRD1|NRD1	52033092|52033092	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	5.393000|5.393000	0.66279|0.66279	1.134000|1.134000	0.42165|0.42165	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.368	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		C	52260504	T	C	52260504	3	2	89	1	0	0	0	0	1	0	0	0	10647	1406	49	3	864	3	NRD1	1	52260504	Missense_Mutation	SNP	T	TCGA-A4-A772-01A-11D-A33Q-10		52260504	196990117	1	5923											
MSH4	4438	hgsc.bcm.edu	37	1	76378456	76378456	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr1:76378456G>A	ENST00000263187.3	+	20	2799	c.2695G>A	c.(2695-2697)Gct>Act	p.A899T		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	899					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGTTCAAACTGCTCGAAACTC	0.383								Mismatch excision repair (MMR)																																								0													51	53	52					1																	76378456		2203	4300	6503	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2695G>A	chr1.hg19:g.76378456G>A	ENSP00000263187:p.Ala899Thr		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	hg19	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265047	0.80358	.	.	ENSG00000057468	ENST00000263187	D	0.88664	-2.41	5.2	5.2	0.72013	.	0.057075	0.64402	D	0.000001	D	0.86694	0.5994	M	0.63843	1.955	0.44155	D	0.996952	D	0.55605	0.972	P	0.50490	0.642	D	0.84547	0.0642	10	0.25751	T	0.34	-39.1665	13.9996	0.64424	0.0:0.0:0.8486:0.1514	.	899	O15457	MSH4_HUMAN	T	899	ENSP00000263187:A899T	ENSP00000263187:A899T	A	+	1	0	MSH4	76151044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.301000	0.72782	2.582000	0.87167	0.453000	0.30009	GCT		0.383	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		A	76378456	G	A	76378456	3	1	89	1	0	0	0	0	1	0	0	0	9874	1319	46	2	2773	2	MSH4	1	76378456	Missense_Mutation	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10	24117952	76378456	172872165	2	5924											
STXBP3	6814	hgsc.bcm.edu	37	1	109338883	109338883	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr1:109338883G>A	ENST00000370008.3	+	14	1188	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	380					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TGATGCAGAAGGACAGAAGGT	0.313																																																0													68	67	68					1																	109338883		2203	4300	6503	SO:0001583	missense	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1138G>A	chr1.hg19:g.109338883G>A	ENSP00000359025:p.Gly380Arg		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	hg19	CCDS790.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823061	0.90873	.	.	ENSG00000116266	ENST00000370008	T	0.81330	-1.48	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.90256	0.6953	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89811	0.3982	10	0.54805	T	0.06	-19.5687	20.1392	0.98050	0.0:0.0:1.0:0.0	.	380	O00186	STXB3_HUMAN	R	380	ENSP00000359025:G380R	ENSP00000359025:G380R	G	+	1	0	STXBP3	109140406	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.716000	0.91420	2.751000	0.94390	0.591000	0.81541	GGA		0.313	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		A	109338883	G	A	109338883	3	1	89	1	0	0	0	0	1	0	0	0	15359	1001	35	2	1192	2	STXBP3	1	109338883	Missense_Mutation	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10	32960427	109338883	139911738	3	5925											
ARHGEF11	9826	hgsc.bcm.edu	37	1	156911226	156911226	+	Splice_Site	SNP	C	C	T			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr1:156911226C>T	ENST00000361409.2	-	34	4075		c.e34-1		ARHGEF11_ENST00000315174.8_Splice_Site|ARHGEF11_ENST00000368194.3_Splice_Site|ARHGEF11_ENST00000487682.1_Splice_Site	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGTTCTACCCTGAGGAAGGA	0.552																																																0													98	86	90					1																	156911226		2203	4300	6503	SO:0001630	splice_region_variant	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3333-1G>A	chr1.hg19:g.156911226C>T			D3DVD0|Q5VY40|Q6PFW2	Splice_Site	SNP	ENST00000361409.2	hg19	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598788	0.66332	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.369	0.60703	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGEF11	155177850	0.999000	0.42202	0.986000	0.45419	0.504000	0.33889	3.269000	0.51592	2.608000	0.88229	0.462000	0.41574	.		0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	Intron	T	156911226	C	T	156911226	5	4	89	1	0	0	0	0	0	0	1	0	896	695	24	2	1264	2	ARHGEF11	1	156911226	Splice_Site	SNP	C	TCGA-A4-A772-01A-11D-A33Q-10	47572343	156911226	92339395	4	5926											
TP53BP2	7159	hgsc.bcm.edu	37	1	223989924	223989924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr1:223989924delC	ENST00000343537.7	-	9	1410	c.1119delG	c.(1117-1119)gtgfs	p.V373fs	TP53BP2_ENST00000391878.2_Frame_Shift_Del_p.V244fs|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'Flank	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	367					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GGGCTGGCTTCACCAGCAATT	0.572																																																0													76	77	77					1																	223989924		2203	4300	6503	SO:0001589	frameshift_variant	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1119delG	chr1.hg19:g.223989924delC	ENSP00000341957:p.Val373fs		B4DG66|Q12892|Q86X75|Q96KQ3	Frame_Shift_Del	DEL	ENST00000343537.7	hg19	CCDS44319.1																																																																																				0.572	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		-	223989924	C	-	223989924	7	5	89	1	0	1	0	1	0	0	0	0	16389	813	29	0	2325	0	TP53BP2	1	223989924	Frame_Shift_Del	DEL	C	TCGA-A4-A772-01A-11D-A33Q-10	67078698	223989924	25260697	5	5927											
SLC35F5	80255	hgsc.bcm.edu	37	2	114513036	114513036	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr2:114513036C>G	ENST00000245680.2	-	2	539	c.126G>C	c.(124-126)aaG>aaC	p.K42N	SLC35F5_ENST00000409342.1_Missense_Mutation_p.K36N	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	42					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TCTACCTTGTCTTAAGAGCCC	0.383																																																0													104	102	102					2																	114513036		2203	4300	6503	SO:0001583	missense	80255			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.126G>C	chr2.hg19:g.114513036C>G	ENSP00000245680:p.Lys42Asn		Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	hg19	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	8.367	0.834366	0.16820	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.50001	0.76;0.76	5.13	-1.54	0.08584	.	0.871411	0.10144	N	0.710493	T	0.28333	0.0700	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.17077	-1.0381	10	0.42905	T	0.14	-0.0951	4.9347	0.13935	0.0:0.2162:0.2783:0.5055	.	42;36;42	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	N	42;36;36	ENSP00000245680:K42N;ENSP00000386754:K36N	ENSP00000245680:K42N	K	-	3	2	SLC35F5	114229506	0.041000	0.20044	0.034000	0.17996	0.117000	0.20001	0.299000	0.19138	-0.420000	0.07427	-0.903000	0.02851	AAG		0.383	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		G	114513036	C	G	114513036	3	3	89	1	0	0	0	0	1	0	0	0	14598	912	32	4	1501	4	SLC35F5	2	114513036	Missense_Mutation	SNP	C	TCGA-A4-A772-01A-11D-A33Q-10		114513036	128686337	6	5928											
RAB3GAP1	22930	hgsc.bcm.edu	37	2	135815643	135815643	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr2:135815643A>G	ENST00000264158.8	+	3	180	c.137A>G	c.(136-138)aAg>aGg	p.K46R	RAB3GAP1_ENST00000425393.1_Missense_Mutation_p.K46R|RAB3GAP1_ENST00000539493.1_5'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.K46R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	46					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCTTTGGGAAAGCCACTCGAA	0.388																																																0													93	88	90					2																	135815643		2203	4300	6503	SO:0001583	missense	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.137A>G	chr2.hg19:g.135815643A>G	ENSP00000264158:p.Lys46Arg		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	hg19	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613130	0.46631	.	.	ENSG00000115839	ENST00000264158;ENST00000442034;ENST00000425393	T;T	0.44482	0.92;0.92	5.62	-1.08	0.09936	.	0.287773	0.36932	N	0.002336	T	0.24392	0.0591	L	0.47716	1.5	0.80722	D	1	B;P	0.38335	0.0;0.627	B;B	0.32677	0.0;0.15	T	0.07233	-1.0783	10	0.19147	T	0.46	-7.7819	5.3457	0.16008	0.5453:0.144:0.3107:0.0	.	46;46	C9J837;Q15042	.;RB3GP_HUMAN	R	46	ENSP00000264158:K46R;ENSP00000411418:K46R	ENSP00000264158:K46R	K	+	2	0	RAB3GAP1	135532113	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	0.810000	0.27183	-0.106000	0.12110	0.533000	0.62120	AAG		0.388	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		G	135815643	A	G	135815643	3	3	89	1	0	0	0	0	1	0	0	0	12941	72	3	3	147	3	RAB3GAP1	2	135815643	Missense_Mutation	SNP	A	TCGA-A4-A772-01A-11D-A33Q-10	21302607	135815643	107383730	7	5929											
PKP4	8502	hgsc.bcm.edu	37	2	159488407	159488407	+	Silent	SNP	T	T	A			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr2:159488407T>A	ENST00000389759.3	+	8	1408	c.1296T>A	c.(1294-1296)acT>acA	p.T432T	PKP4_ENST00000389757.3_Silent_p.T432T	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	432					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACCATGGAACTGTGGAGCTCC	0.517										HNSCC(62;0.18)																																						0													123	111	115					2																	159488407		2203	4300	6503	SO:0001819	synonymous_variant	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1296T>A	chr2.hg19:g.159488407T>A			Q86W91	Silent	SNP	ENST00000389759.3	hg19	CCDS33305.1																																																																																				0.517	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			A	159488407	T	A	159488407	2	1	89	1	0	0	0	0	0	0	0	1	11989	1567	55	5		5	PKP4	2	159488407	Silent	SNP	T	TCGA-A4-A772-01A-11D-A33Q-10	23672764	159488407	83710966	8	5930											
KCNH7	90134	hgsc.bcm.edu	37	2	163256852	163256852	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr2:163256852C>T	ENST00000332142.5	-	10	2353	c.2254G>A	c.(2254-2256)Ggt>Agt	p.G752S		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	752					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTAAGGCAACCTTTACTTGCC	0.478																																					GBM(196;1492 2208 17507 24132 45496)											0													148	149	148					2																	163256852		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2254G>A	chr2.hg19:g.163256852C>T	ENSP00000331727:p.Gly752Ser		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	hg19	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436882	0.96168	.	.	ENSG00000184611	ENST00000332142	D	0.96427	-4.01	5.57	5.57	0.84162	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97259	0.9104	M	0.67569	2.06	0.80722	D	1	D	0.56035	0.974	P	0.55615	0.78	D	0.97606	1.0126	10	0.72032	D	0.01	.	19.5531	0.95330	0.0:1.0:0.0:0.0	.	752	Q9NS40	KCNH7_HUMAN	S	752	ENSP00000331727:G752S	ENSP00000331727:G752S	G	-	1	0	KCNH7	162965098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.807000	0.86032	2.628000	0.89032	0.591000	0.81541	GGT		0.478	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		T	163256852	C	T	163256852	3	4	89	1	0	0	0	0	1	0	0	0	8039	681	24	2	1364	2	KCNH7	2	163256852	Missense_Mutation	SNP	C	TCGA-A4-A772-01A-11D-A33Q-10	3768445	163256852	79942521	9	5931											
SLC6A6	6533	hgsc.bcm.edu	37	3	14526398	14526417	+	Frame_Shift_Del	DEL	AAGGGAACCCAACCGCTGGG	AAGGGAACCCAACCGCTGGG	-	rs376586731		TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	AAGGGAACCCAACCGCTGGG	AAGGGAACCCAACCGCTGGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr3:14526398_14526417delAAGGGAACCCAACCGCTGGG	ENST00000454876.2	+	15	2075_2094	c.1746_1765delAAGGGAACCCAACCGCTGGG	c.(1744-1767)ccaagggaacccaaccgctgggctfs	p.REPNRWA583fs	SLC6A6_ENST00000360861.3_Frame_Shift_Del_p.REPNRWA583fs			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	583					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGCTGACCCCAAGGGAACCCAACCGCTGGGCTGTGGAGCG	0.609																																																0																																										SO:0001589	frameshift_variant	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1746_1765delAAGGGAACCCAACCGCTGGG	chr3.hg19:g.14526398_14526417delAAGGGAACCCAACCGCTGGG	ENSP00000398063:p.Arg583fs		B2RNU7|Q9BRI2|Q9BXB0	Frame_Shift_Del	DEL	ENST00000454876.2	hg19	CCDS33705.1																																																																																				0.609	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		-	14526417	AAGGGAACCCAACCGCTGGG	-	14526398	7	5	89	1	0	1	0	1	0	0	0	0	14694	117	5	0	1800	0	SLC6A6	3	14526398	Frame_Shift_Del	DEL	AAGGGAACCCAACCGCTGGG	TCGA-A4-A772-01A-11D-A33Q-10		14526398	183496032	10	5932											
ACOX2	8309	hgsc.bcm.edu	37	3	58494718	58494718	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr3:58494718A>C	ENST00000302819.5	-	14	2176	c.1885T>G	c.(1885-1887)Ttc>Gtc	p.F629V	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.F615V	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	629					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TGATCGGTGAAGTCAAAAGCA	0.418																																																0													120	106	111					3																	58494718		2203	4300	6503	SO:0001583	missense	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1885T>G	chr3.hg19:g.58494718A>C	ENSP00000307697:p.Phe629Val		A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	hg19	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.408425	0.83340	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.42900	0.96;0.96	5.43	5.43	0.79202	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.093665	0.46442	D	0.000282	T	0.53158	0.1779	M	0.76938	2.355	0.44702	D	0.997696	P	0.46395	0.877	P	0.46885	0.53	T	0.58387	-0.7645	10	0.48119	T	0.1	-29.0011	15.5185	0.75846	1.0:0.0:0.0:0.0	.	629	Q99424	ACOX2_HUMAN	V	615;629	ENSP00000418562:F615V;ENSP00000307697:F629V	ENSP00000307697:F629V	F	-	1	0	ACOX2	58469758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.308000	0.72820	2.088000	0.63022	0.472000	0.43445	TTC		0.418	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			C	58494718	A	C	58494718	3	2	89	1	0	0	0	0	1	0	0	0	159	72	3	5	168	5	ACOX2	3	58494718	Missense_Mutation	SNP	A	TCGA-A4-A772-01A-11D-A33Q-10	43968320	58494718	139527712	11	5933											
CADM2	253559	hgsc.bcm.edu	37	3	86114787	86114787	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr3:86114787G>A	ENST00000407528.2	+	9	1158	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	CADM2_ENST00000383699.3_Missense_Mutation_p.D335N|CADM2_ENST00000405615.2_Missense_Mutation_p.D368N	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	366					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D335H(1)|p.D368H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GAATGGCCCTGACCATGCTCT	0.403																																																2	Substitution - Missense(2)	lung(2)											157	140	146					3																	86114787		2203	4300	6503	SO:0001583	missense	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1096G>A	chr3.hg19:g.86114787G>A	ENSP00000384575:p.Asp366Asn		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	hg19	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603574	0.96626	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.69175	-0.22;-0.38;-0.38	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	L	0.41824	1.3	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.83275	0.996;0.995;0.996	T	0.68281	-0.5450	10	0.17832	T	0.49	.	19.964	0.97260	0.0:0.0:1.0:0.0	.	368;335;366	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	N	335;366;368	ENSP00000373200:D335N;ENSP00000384575:D366N;ENSP00000384193:D368N	ENSP00000373200:D335N	D	+	1	0	CADM2	86197477	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.721000	0.93114	0.650000	0.86243	GAC		0.403	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		A	86114787	G	A	86114787	3	1	89	1	0	0	0	0	1	0	0	0	2569	1290	45	2	1201	2	CADM2	3	86114787	Missense_Mutation	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10	27620069	86114787	111907643	12	5934											
QTRTD1	79691	hgsc.bcm.edu	37	3	113795727	113795727	+	Silent	SNP	C	C	T			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr3:113795727C>T	ENST00000493014.1	+	3	434	c.366C>T	c.(364-366)acC>acT	p.T122T	QTRTD1_ENST00000485050.1_Silent_p.T240T|QTRTD1_ENST00000479882.1_Silent_p.T105T|QTRTD1_ENST00000281273.4_Silent_p.T228T	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						ATCCAACAACCCTGGAGGCTA	0.567																																																0													90	75	80					3																	113795727		2203	4300	6503	SO:0001819	synonymous_variant	79691			AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.366C>T	chr3.hg19:g.113795727C>T				Silent	SNP	ENST00000493014.1	hg19	CCDS58845.1																																																																																				0.567	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		T	113795727	C	T	113795727	2	4	89	1	0	0	0	0	0	0	0	1	12892	610	22	2		2	QTRTD1	3	113795727	Silent	SNP	C	TCGA-A4-A772-01A-11D-A33Q-10	27680940	113795727	84226703	13	5935											
NDUFB4	4710	hgsc.bcm.edu	37	3	120321109	120321109	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr3:120321109T>A	ENST00000184266.2	+	3	433	c.382T>A	c.(382-384)Tca>Aca	p.S128T	NDUFB4_ENST00000485064.1_3'UTR|NDUFB4_ENST00000492739.1_Missense_Mutation_p.S79T	NM_004547.5	NP_004538.2	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	128					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)		ATTTCACCTCTCATATTAAGT	0.303																																																0													82	90	87					3																	120321109		2203	4295	6498	SO:0001583	missense	4710			AF044957	CCDS2999.1, CCDS54630.1	3q13.33	2011-07-04	2002-08-29		ENSG00000065518	ENSG00000065518		"Mitochondrial respiratory chain complex / Complex I"	7699	protein-coding gene	gene with protein product	"complex I B15 subunit"	603840	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)"			9878551	Standard	NM_004547		Approved	B15	uc003edu.3	O95168	OTTHUMG00000159442	ENST00000184266.2:c.382T>A	chr3.hg19:g.120321109T>A	ENSP00000184266:p.Ser128Thr		B2RUY3|B9EJC7	Missense_Mutation	SNP	ENST00000184266.2	hg19	CCDS2999.1	.	.	.	.	.	.	.	.	.	.	T	6.494	0.459339	0.12342	.	.	ENSG00000065518	ENST00000184266;ENST00000492739	.	.	.	4.88	-0.947	0.10382	.	0.721652	0.12974	N	0.423890	T	0.39860	0.1094	M	0.64567	1.98	0.09310	N	1	B	0.22746	0.074	B	0.23574	0.047	T	0.41070	-0.9529	9	0.59425	D	0.04	-3.6658	5.2004	0.15260	0.47:0.0:0.1616:0.3683	.	128	O95168	NDUB4_HUMAN	T	128;79	.	ENSP00000184266:S128T	S	+	1	0	NDUFB4	121803799	0.001000	0.12720	0.547000	0.28179	0.010000	0.07245	0.040000	0.13905	0.054000	0.16065	-0.336000	0.08194	TCA		0.303	NDUFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355420.1	NM_004547		A	120321109	T	A	120321109	3	1	89	1	0	0	0	0	1	0	0	0	10285	1551	54	5	428	5	NDUFB4	3	120321109	Missense_Mutation	SNP	T	TCGA-A4-A772-01A-11D-A33Q-10	6525382	120321109	77701321	14	5936											
EFNA5	1946	hgsc.bcm.edu	37	5	106763191	106763191	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr5:106763191G>A	ENST00000333274.6	-	2	426	c.145C>T	c.(145-147)Cat>Tat	p.H49Y	EFNA5_ENST00000509503.1_Missense_Mutation_p.H49Y	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	49	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		ACATCAATATGGTAGTCACCC	0.408																																																0													106	107	106					5																	106763191		2202	4300	6502	SO:0001583	missense	1946			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"Ephrins"	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.145C>T	chr5.hg19:g.106763191G>A	ENSP00000328777:p.His49Tyr			Missense_Mutation	SNP	ENST00000333274.6	hg19	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737704	0.30774	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	D;D	0.92965	-3.14;-3.14	6.06	6.06	0.98353	Cupredoxin (2);	0.041559	0.85682	D	0.000000	D	0.89483	0.6728	L	0.40543	1.245	0.80722	D	1	P;P	0.49559	0.925;0.629	P;P	0.47915	0.561;0.478	D	0.85995	0.1491	10	0.08599	T	0.76	-23.2864	15.3505	0.74380	0.0:0.0:0.8605:0.1395	.	49;49	D6RDV5;P52803	.;EFNA5_HUMAN	Y	49	ENSP00000328777:H49Y;ENSP00000426989:H49Y	ENSP00000328777:H49Y	H	-	1	0	EFNA5	106791090	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.500000	0.81588	2.882000	0.98803	0.655000	0.94253	CAT		0.408	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962		A	106763191	G	A	106763191	3	1	89	1	0	0	0	0	1	0	0	0	4956	1348	47	2	557	2	EFNA5	5	106763191	Missense_Mutation	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10		106763191	74152069	15	5937											
RING1	6015	hgsc.bcm.edu	37	6	33179580	33179580	+	Missense_Mutation	SNP	G	G	A	rs528777843		TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr6:33179580G>A	ENST00000374656.4	+	6	1128	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	307	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCCTCGAGCGGAGGCAACAG	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13950	0.0		0.0	False		,,,				2504	0.0															0													71	73	72					6																	33179580		2203	4299	6502	SO:0001583	missense	6015				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.920G>A	chr6.hg19:g.33179580G>A	ENSP00000363787:p.Arg307Gln		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	hg19	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	G	6.906	0.536803	0.13188	.	.	ENSG00000204227	ENST00000374656	D	0.83335	-1.71	3.89	3.89	0.44902	.	0.281756	0.28671	N	0.014523	T	0.38957	0.1060	N	0.08118	0	0.31260	N	0.693011	P	0.41420	0.749	B	0.23419	0.046	T	0.41342	-0.9514	10	0.13853	T	0.58	-20.2778	11.2237	0.48871	0.0:0.0:1.0:0.0	.	307	Q06587	RING1_HUMAN	Q	307	ENSP00000363787:R307Q	ENSP00000363787:R307Q	R	+	2	0	RING1	33287558	0.991000	0.36638	0.986000	0.45419	0.113000	0.19764	0.000000	0.12993	1.965000	0.57142	0.448000	0.29417	CGG		0.647	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			A	33179580	G	A	33179580	3	1	89	1	0	0	0	0	1	0	0	0	13380	1116	39	1	938	1	RING1	6	33179580	Missense_Mutation	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10		33179580	137935487	16	5938											
ABCA13	154664	hgsc.bcm.edu	37	7	48654963	48654963	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr7:48654963A>G	ENST00000435803.1	+	59	14851	c.14827A>G	c.(14827-14829)Atc>Gtc	p.I4943V	ABCA13_ENST00000544596.1_Missense_Mutation_p.I673V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4943	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCTCAGCACATCAAAAATAG	0.418																																																0													97	94	95					7																	48654963		1926	4132	6058	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14827A>G	chr7.hg19:g.48654963A>G	ENSP00000411096:p.Ile4943Val		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.371572	0.61624	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.97906	-4.6;-4.6;-4.6	5.99	2.22	0.28083	ABC transporter-like (1);	0.254751	0.27469	N	0.019238	D	0.94968	0.8372	N	0.25245	0.725	0.29963	N	0.819227	P;D;P	0.58268	0.679;0.982;0.921	B;P;B	0.50934	0.264;0.654;0.401	D	0.91892	0.5524	10	0.72032	D	0.01	.	7.8742	0.29584	0.4999:0.4258:0.0743:0.0	.	673;2645;4943	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	V	4943;716;673	ENSP00000411096:I4943V;ENSP00000391042:I716V;ENSP00000442634:I673V	ENSP00000391042:I716V	I	+	1	0	ABCA13	48625509	0.221000	0.23642	0.940000	0.37924	0.947000	0.59692	0.258000	0.18387	0.492000	0.27815	-0.316000	0.08728	ATC		0.418	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		G	48654963	A	G	48654963	3	3	89	1	0	0	0	0	1	0	0	0	31	217	8	3	14890	3	ABCA13	7	48654963	Missense_Mutation	SNP	A	TCGA-A4-A772-01A-11D-A33Q-10		48654963	110483700	17	5939											
KEL	3792	hgsc.bcm.edu	37	7	142658912	142658912	+	Silent	SNP	T	T	G			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr7:142658912T>G	ENST00000355265.2	-	2	525	c.51A>C	c.(49-51)gcA>gcC	p.A17A	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	17					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCATTCCACCTGCCTGGCTGC	0.547																																																0													283	240	255					7																	142658912		2203	4300	6503	SO:0001819	synonymous_variant	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.51A>C	chr7.hg19:g.142658912T>G			B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	hg19	CCDS34766.1																																																																																				0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		G	142658912	T	G	142658912	2	3	89	1	0	0	0	0	0	0	0	1	8144	1567	55	5		5	KEL	7	142658912	Silent	SNP	T	TCGA-A4-A772-01A-11D-A33Q-10	94003949	142658912	16479751	18	5940											
LRP12	29967	hgsc.bcm.edu	37	8	105509750	105509750	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr8:105509750C>G	ENST00000276654.5	-	5	1138	c.1030G>C	c.(1030-1032)Gtt>Ctt	p.V344L	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.V325L	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	344	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAAGAAGAAACAACTGTAAGA	0.388																																																0													69	68	68					8																	105509750		2203	4300	6503	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1030G>C	chr8.hg19:g.105509750C>G	ENSP00000276654:p.Val344Leu		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	hg19	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795513	0.70452	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.27402	1.67;1.67	5.95	5.95	0.96441	CUB (5);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.35487	1.065	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.79108	0.98;0.992	T	0.07290	-1.0780	10	0.12766	T	0.61	-26.5114	20.3748	0.98911	0.0:1.0:0.0:0.0	.	325;344	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	L	325;344	ENSP00000399148:V325L;ENSP00000276654:V344L	ENSP00000276654:V344L	V	-	1	0	LRP12	105578926	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.263000	0.78421	2.817000	0.96982	0.563000	0.77884	GTT		0.388	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		G	105509750	C	G	105509750	3	3	89	1	0	0	0	0	1	0	0	0	8956	478	17	4	1561	4	LRP12	8	105509750	Missense_Mutation	SNP	C	TCGA-A4-A772-01A-11D-A33Q-10		105509750	40854272	19	5941											
FRMD3	257019	hgsc.bcm.edu	37	9	86004612	86004615	+	Frame_Shift_Del	DEL	TTTG	TTTG	-	rs145028837		TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	TTTG	TTTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr9:86004612_86004615delTTTG	ENST00000304195.3	-	2	362_365	c.156_159delCAAA	c.(154-159)accaaafs	p.TK52fs	FRMD3_ENST00000376438.1_Frame_Shift_Del_p.TK52fs	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	52	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAACTGCCCTTTGGTTTCCCTCT	0.5																																																0																																										SO:0001589	frameshift_variant	257019			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.156_159delCAAA	chr9.hg19:g.86004612_86004615delTTTG	ENSP00000303508:p.Thr52fs		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Frame_Shift_Del	DEL	ENST00000304195.3	hg19	CCDS43840.1																																																																																				0.5	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		-	86004615	TTTG	-	86004612	7	5	89	1	0	1	0	1	0	0	0	0	6052	1606	56	0	1686	0	FRMD3	9	86004612	Frame_Shift_Del	DEL	TTTG	TCGA-A4-A772-01A-11D-A33Q-10		86004612	55208819	20	5942											
SOHLH1	402381	hgsc.bcm.edu	37	9	138589408	138589408	+	Silent	SNP	C	C	G	rs561649799		TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr9:138589408C>G	ENST00000298466.5	-	4	471	c.411G>C	c.(409-411)tcG>tcC	p.S137S	SOHLH1_ENST00000425225.1_Silent_p.S137S	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	137					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GAATCTGACTCGACAACGTCA	0.527																																																0													78	65	70					9																	138589408		2202	4300	6502	SO:0001819	synonymous_variant	402381			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.411G>C	chr9.hg19:g.138589408C>G			C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	hg19	CCDS35174.1																																																																																				0.527	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		G	138589408	C	G	138589408	2	3	89	1	0	0	0	0	0	0	0	1	14929	871	31	4		4	SOHLH1	9	138589408	Silent	SNP	C	TCGA-A4-A772-01A-11D-A33Q-10	52584796	138589408	2624023	21	5943											
CACNA1B	774	hgsc.bcm.edu	37	9	140952502	140952502	+	Splice_Site	SNP	G	G	C			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr9:140952502G>C	ENST00000371372.1	+	28	4253	c.4108G>C	c.(4108-4110)Gtg>Ctg	p.V1370L	CACNA1B_ENST00000371363.1_Splice_Site_p.V1370L|CACNA1B_ENST00000371355.4_Splice_Site_p.V1371L|CACNA1B_ENST00000277551.2_Splice_Site_p.V1370L|CACNA1B_ENST00000371357.1_Splice_Site_p.V1371L|CACNA1B_ENST00000277549.5_Splice_Site_p.V566L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1370					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTGCCCAGGGTGCTGAAACA	0.567																																																0													119	112	114					9																	140952502		2003	4183	6186	SO:0001630	splice_region_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4107-1G>C	chr9.hg19:g.140952502G>C			B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911067	0.92178	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	5.33	5.33	0.75918	.	0.062804	0.64402	D	0.000004	D	0.97501	0.9182	L	0.51853	1.615	0.80722	D	1	B;D;D	0.76494	0.008;0.999;0.999	B;D;D	0.74348	0.016;0.983;0.983	D	0.95747	0.8788	10	0.13108	T	0.6	.	19.4443	0.94840	0.0:0.0:1.0:0.0	.	1370;1371;1370	B1AQK4;B1AQK7;B1AQK6	.;.;.	L	1370;1370;566;1370;1371;1371	ENSP00000360423:V1370L;ENSP00000277551:V1370L;ENSP00000277549:V566L;ENSP00000360414:V1370L;ENSP00000360408:V1371L;ENSP00000360406:V1371L	ENSP00000277549:V566L	V	+	1	0	CACNA1B	140072323	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.725000	0.98778	2.682000	0.91365	0.555000	0.69702	GTG		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	Missense_Mutation	C	140952502	G	C	140952502	5	2	89	1	0	0	0	0	0	0	1	0	2541	1275	44	4	4218	4	CACNA1B	9	140952502	Splice_Site	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10	2363094	140952502	260929	22	5944											
KRTAP5-2	440021	hgsc.bcm.edu	37	11	1619255	1619255	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr11:1619255T>A	ENST00000412090.1	-	1	269	c.226A>T	c.(226-228)Acc>Tcc	p.T76S	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	76	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGCTGGTGCAGGAACAG	0.677																																																0													79	101	94					11																	1619255		2202	4299	6501	SO:0001583	missense	440021			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"Keratin associated proteins"	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.226A>T	chr11.hg19:g.1619255T>A	ENSP00000400041:p.Thr76Ser		A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	hg19	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	N	7.373	0.627221	0.14257	.	.	ENSG00000205867	ENST00000412090	T	0.00603	6.28	2.65	-0.183	0.13284	.	.	.	.	.	T	0.00178	0.0005	N	0.00210	-1.845	0.09310	N	0.999993	B	0.11235	0.004	B	0.06405	0.002	T	0.34153	-0.9840	9	0.07644	T	0.81	.	3.2935	0.06957	0.5374:0.0:0.1142:0.3484	.	76	Q701N4	KRA52_HUMAN	S	76	ENSP00000400041:T76S	ENSP00000400041:T76S	T	-	1	0	KRTAP5-2	1575831	0.111000	0.22076	0.725000	0.30721	0.572000	0.35998	-0.241000	0.08940	-0.911000	0.03843	-3.088000	0.00065	ACC		0.677	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		A	1619255	T	A	1619255	3	1	89	1	0	0	0	0	1	0	0	0	8563	1696	59	5	311	5	KRTAP5-2	11	1619255	Missense_Mutation	SNP	T	TCGA-A4-A772-01A-11D-A33Q-10		1619255	133387261	23	5945											
CREB3L1	90993	hgsc.bcm.edu	37	11	46334184	46334184	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr11:46334184C>T	ENST00000529193.1	+	7	1376	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	CREB3L1_ENST00000288400.3_Missense_Mutation_p.R309C			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	309	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GGAGAGCCGTCGTAAGAAGAA	0.562			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0													39	40	40					11																	46334184		1886	4102	5988	SO:0001583	missense	90993				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.925C>T	chr11.hg19:g.46334184C>T	ENSP00000434939:p.Arg309Cys		Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	hg19	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141715	0.77775	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415;ENST00000530518	T;T;T	0.77358	-1.09;-1.09;-1.09	4.69	4.69	0.59074	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.168110	0.50627	D	0.000103	D	0.90376	0.6988	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.92077	0.5669	10	0.87932	D	0	-9.1036	10.8454	0.46741	0.3258:0.6742:0.0:0.0	.	309	Q96BA8	CR3L1_HUMAN	C	309;309;221;69	ENSP00000434939:R309C;ENSP00000288400:R309C;ENSP00000436574:R69C	ENSP00000288400:R309C	R	+	1	0	CREB3L1	46290760	0.997000	0.39634	1.000000	0.80357	0.970000	0.65996	3.088000	0.50175	2.439000	0.82584	0.462000	0.41574	CGT		0.562	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		T	46334184	C	T	46334184	3	4	89	1	0	0	0	0	1	0	0	0	3858	884	31	1	951	1	CREB3L1	11	46334184	Missense_Mutation	SNP	C	TCGA-A4-A772-01A-11D-A33Q-10	44714929	46334184	88672332	24	5946											
NXF1	10482	hgsc.bcm.edu	37	11	62563986	62563986	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr11:62563986T>C	ENST00000532297.1	-	15	1861	c.1232A>G	c.(1231-1233)cAt>cGt	p.H411R	NXF1_ENST00000294172.2_Missense_Mutation_p.H411R|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	411	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCCCCATCATGGTAGGCATC	0.517																																																0													113	112	112					11																	62563986		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1232A>G	chr11.hg19:g.62563986T>C	ENSP00000436679:p.His411Arg		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	hg19	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552072	0.86127	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.66638	-0.22;-0.22;-0.22	5.11	5.11	0.69529	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.84224	0.5425	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86541	0.1828	10	0.49607	T	0.09	-27.1453	12.906	0.58152	0.0:0.0:0.0:1.0	.	454;411	E9PIN3;Q9UBU9	.;NXF1_HUMAN	R	411;411;454	ENSP00000294172:H411R;ENSP00000436679:H411R;ENSP00000435742:H454R	ENSP00000294172:H411R	H	-	2	0	NXF1	62320562	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.548000	0.82154	2.159000	0.67721	0.443000	0.29094	CAT		0.517	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		C	62563986	T	C	62563986	3	2	89	1	0	0	0	0	1	0	0	0	10784	1464	51	3	659	3	NXF1	11	62563986	Missense_Mutation	SNP	T	TCGA-A4-A772-01A-11D-A33Q-10	16229802	62563986	72442530	25	5947											
PKP2	5318	hgsc.bcm.edu	37	12	33003716	33003716	+	Silent	SNP	A	A	T			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr12:33003716A>T	ENST00000070846.6	-	5	1386	c.1362T>A	c.(1360-1362)acT>acA	p.T454T	PKP2_ENST00000340811.4_Silent_p.T454T	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	454					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTTGTTTTTTAGTCTCCAAGT	0.418																																																0													135	132	133					12																	33003716		2203	4300	6503	SO:0001819	synonymous_variant	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1362T>A	chr12.hg19:g.33003716A>T			A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	hg19	CCDS8731.1																																																																																				0.418	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		T	33003716	A	T	33003716	2	4	89	1	0	0	0	0	0	0	0	1	11987	407	15	5		5	PKP2	12	33003716	Silent	SNP	A	TCGA-A4-A772-01A-11D-A33Q-10		33003716	100848179	26	5948											
UBC	7316	hgsc.bcm.edu	37	12	125397821	125397821	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr12:125397821G>A	ENST00000536769.1	-	1	2073	c.497C>T	c.(496-498)aCc>aTc	p.T166I	UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Missense_Mutation_p.T166I|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	166	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CACCTCGAGGGTGATGGTCTT	0.517																																																0													169	168	169					12																	125397821		2203	4298	6501	SO:0001583	missense	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.497C>T	chr12.hg19:g.125397821G>A	ENSP00000441543:p.Thr166Ile		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	hg19	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	-	17.15	3.316028	0.60524	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000339647	T;T	0.75477	-0.94;-0.94	3.91	3.91	0.45181	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.49305	U	0.000150	D	0.86879	0.6039	M	0.85041	2.73	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.995	D;D;D	0.87578	0.998;0.975;0.998	D	0.89541	0.3792	10	0.87932	D	0	.	14.8482	0.70275	0.0:0.0:1.0:0.0	.	255;166;166	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	I	166	ENSP00000441543:T166I;ENSP00000344818:T166I	ENSP00000344818:T166I	T	-	2	0	UBC	123963774	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.136000	0.89610	1.897000	0.54924	0.555000	0.69702	ACC		0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		A	125397821	G	A	125397821	3	1	89	1	0	0	0	0	1	0	0	0	16847	1261	44	2	1564	2	UBC	12	125397821	Missense_Mutation	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10	92394105	125397821	8454074	27	5949											
TMTC4	84899	hgsc.bcm.edu	37	13	101287287	101287287	+	Silent	SNP	G	G	T			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr13:101287287G>T	ENST00000376234.3	-	10	1497	c.1308C>A	c.(1306-1308)acC>acA	p.T436T	TMTC4_ENST00000328767.5_Silent_p.T325T|TMTC4_ENST00000342624.5_Silent_p.T455T|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	436						integral component of membrane (GO:0016021)				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)					CCTTTTTCTTGGTATGTTTGC	0.502																																																0													86	81	82					13																	101287287		2203	4300	6503	SO:0001819	synonymous_variant	84899				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.1308C>A	chr13.hg19:g.101287287G>T			A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	hg19	CCDS41904.1																																																																																				0.502	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		T	101287287	G	T	101287287	2	4	89	1	0	0	0	0	0	0	0	1	16268	1335	47	4		4	TMTC4	13	101287287	Silent	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10		101287287	13882591	28	5950											
OXA1L	9056	hgsc.bcm.edu	37	14	23240318	23240318	+	IGR	SNP	T	T	C			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr14:23240318T>C	ENST00000397532.3	-	0	2447				OXA1L_ENST00000412791.1_Missense_Mutation_p.I344T|OXA1L_ENST00000285848.5_Missense_Mutation_p.I404T|SLC7A7_ENST00000554061.1_5'Flank|OXA1L_ENST00000604262.1_Missense_Mutation_p.I344T|OXA1L_ENST00000358043.5_Missense_Mutation_p.I328T			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GTACTTAAAATCCCCCAGCGT	0.488																																																0													117	104	108					14																	23240318		2203	4300	6503	SO:0001628	intergenic_variant	5018			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		chr14.hg19:g.23240318T>C			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	hg19	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034342	0.54896	.	.	ENSG00000155463	ENST00000285848;ENST00000412791;ENST00000358043	T;T;T	0.42900	0.96;1.05;0.98	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.987;0.991;0.975	T	0.72959	-0.4133	10	0.87932	D	0	-21.7899	14.954	0.71098	0.0:0.0:0.0:1.0	.	344;344;404	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	T	404;344;328	ENSP00000285848:I404T;ENSP00000387601:I344T;ENSP00000350740:I328T	ENSP00000285848:I404T	I	+	2	0	OXA1L	22310158	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	6.496000	0.73670	2.162000	0.67917	0.496000	0.49642	ATC		0.488	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			C	23240318	T	C	23240318	1	2	89	0	1	0	0	0	0	0	0	0	11330	1435	50	3		3	OXA1L	14	23240318	IGR	SNP	T	TCGA-A4-A772-01A-11D-A33Q-10		23240318	84109222	29	5951											
IPO4	79711	hgsc.bcm.edu	37	14	24656090	24656090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr14:24656090G>T	ENST00000354464.6	-	8	926	c.750C>A	c.(748-750)tgC>tgA	p.C250*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	250					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCACCTCCAGGCAGAATGTGA	0.552																																																0													56	62	60					14																	24656090		2120	4256	6376	SO:0001587	stop_gained	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.750C>A	chr14.hg19:g.24656090G>T	ENSP00000346453:p.Cys250*		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Nonsense_Mutation	SNP	ENST00000354464.6	hg19	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	36	5.871003	0.97049	.	.	ENSG00000196497	ENST00000354464	.	.	.	4.96	4.07	0.47477	.	0.117958	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6276	10.7129	0.45995	0.0895:0.0:0.9105:0.0	.	.	.	.	X	250	.	ENSP00000346453:C250X	C	-	3	2	IPO4	23725930	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.957000	0.49137	1.454000	0.47793	0.655000	0.94253	TGC		0.552	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		T	24656090	G	T	24656090	4	4	89	1	0	0	0	0	0	1	0	0	7797	1195	42	4	2587	4	IPO4	14	24656090	Nonsense_Mutation	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10	1415772	24656090	82693450	30	5952											
SERPINA5	5104	hgsc.bcm.edu	37	14	95053705	95053705	+	Silent	SNP	G	G	A			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr14:95053705G>A	ENST00000554866.1	+	2	120	c.6G>A	c.(4-6)caG>caA	p.Q2Q	SERPINA5_ENST00000329597.7_Silent_p.Q2Q|SERPINA5_ENST00000554276.1_Silent_p.Q2Q|SERPINA5_ENST00000553780.1_Silent_p.Q2Q			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	2					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCACCATGCAGCTCTTCCTCC	0.587																																																0													80	89	86					14																	95053705		2203	4300	6503	SO:0001819	synonymous_variant	5104			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.6G>A	chr14.hg19:g.95053705G>A			Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	hg19	CCDS9928.1																																																																																				0.587	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		A	95053705	G	A	95053705	2	1	89	1	0	0	0	0	0	0	0	1	14098	962	34	2		2	SERPINA5	14	95053705	Silent	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10	70397615	95053705	12295835	31	5953											
SPTBN5	51332	hgsc.bcm.edu	37	15	42142086	42142086	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr15:42142086delG	ENST00000320955.6	-	67	11220	c.10993delC	c.(10993-10995)cggfs	p.R3665fs	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3665					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CATCCAGGCCGGGCATCCTTG	0.602																																																0													56	59	58					15																	42142086		1926	4125	6051	SO:0001589	frameshift_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10993delC	chr15.hg19:g.42142086delG	ENSP00000317790:p.Arg3665fs			Frame_Shift_Del	DEL	ENST00000320955.6	hg19																																																																																					0.602	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		-	42142086	G	-	42142086	7	5	89	1	0	1	0	1	0	0	0	0	15127	1115	39	0	39	0	SPTBN5	15	42142086	Frame_Shift_Del	DEL	G	TCGA-A4-A772-01A-11D-A33Q-10		42142086	60389306	32	5954											
CLEC16A	23274	hgsc.bcm.edu	37	16	11214588	11214588	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr16:11214588G>T	ENST00000409790.1	+	20	2463	c.2233G>T	c.(2233-2235)Ggc>Tgc	p.G745C	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.G727C	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTCCAGGCTTGGCTGGGGAGT	0.527																																																1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											112	115	114					16																	11214588		2054	4203	6257	SO:0001583	missense	23274			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2233G>T	chr16.hg19:g.11214588G>T	ENSP00000387122:p.Gly745Cys			Missense_Mutation	SNP	ENST00000409790.1	hg19	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592315	0.86953	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.65549	-0.16	5.58	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.971	T	0.83060	-0.0148	10	0.87932	D	0	-26.9241	14.9754	0.71267	0.0:0.0:0.8573:0.1427	.	745;727	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	C	745;745;727	ENSP00000387122:G745C	ENSP00000386495:G727C	G	+	1	0	CLEC16A	11122089	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.516000	0.81772	2.640000	0.89533	0.561000	0.74099	GGC		0.527	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		T	11214588	G	T	11214588	3	4	89	1	0	0	0	0	1	0	0	0	3502	1348	47	4	2307	4	CLEC16A	16	11214588	Missense_Mutation	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10		11214588	79140165	33	5955											
NT5M	56953	hgsc.bcm.edu	37	17	17209883	17209883	+	Silent	SNP	A	A	T			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr17:17209883A>T	ENST00000389022.4	+	2	510	c.294A>T	c.(292-294)tcA>tcT	p.S98S		NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	98					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTTGGGAGTCAAAGAATTTCT	0.507																																																0													147	155	152					17																	17209883		2203	4300	6503	SO:0001819	synonymous_variant	56953			AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"5' nucleotidase, mitochondrial"			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.294A>T	chr17.hg19:g.17209883A>T				Silent	SNP	ENST00000389022.4	hg19	CCDS32581.1																																																																																				0.507	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			T	17209883	A	T	17209883	2	4	89	1	0	0	0	0	0	0	0	1	10696	117	5	5		5	NT5M	17	17209883	Silent	SNP	A	TCGA-A4-A772-01A-11D-A33Q-10		17209883	63985327	34	5956											
TBX21	30009	hgsc.bcm.edu	37	17	45822561	45822561	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr17:45822561G>C	ENST00000177694.1	+	6	1648	c.1437G>C	c.(1435-1437)gaG>gaC	p.E479D		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	479					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTGGACTGAGATTGCCCCCA	0.642																																																0													42	43	43					17																	45822561		2203	4300	6503	SO:0001583	missense	30009			AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"T-boxes"	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1437G>C	chr17.hg19:g.45822561G>C	ENSP00000177694:p.Glu479Asp			Missense_Mutation	SNP	ENST00000177694.1	hg19	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581500	0.28180	.	.	ENSG00000073861	ENST00000177694	D	0.87179	-2.22	4.65	-0.982	0.10266	.	0.577561	0.17764	N	0.162817	T	0.76069	0.3936	L	0.47016	1.485	0.42346	D	0.99235	B	0.10296	0.003	B	0.10450	0.005	T	0.59768	-0.7392	10	0.29301	T	0.29	.	0.7332	0.00961	0.2942:0.1842:0.3602:0.1614	.	479	Q9UL17	TBX21_HUMAN	D	479	ENSP00000177694:E479D	ENSP00000177694:E479D	E	+	3	2	TBX21	43177560	0.955000	0.32602	0.856000	0.33681	0.903000	0.53119	-0.086000	0.11233	-0.012000	0.14223	-0.137000	0.14449	GAG		0.642	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		C	45822561	G	C	45822561	3	2	89	1	0	0	0	0	1	0	0	0	15662	933	33	4	1459	4	TBX21	17	45822561	Missense_Mutation	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10	28612678	45822561	35372649	35	5957											
ABCC3	8714	hgsc.bcm.edu	37	17	48755182	48755182	+	Silent	SNP	G	G	A	rs142831476		TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr17:48755182G>A	ENST00000285238.8	+	24	3536	c.3456G>A	c.(3454-3456)tcG>tcA	p.S1152S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1152	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCCACTTTTCGGAGACAGTGA	0.542																																																0								G		1,4405	2.1+/-5.4	0,1,2202	134	137	136		3456	-0.4	1	17	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCC3	NM_003786.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		1152/1528	48755182	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3456G>A	chr17.hg19:g.48755182G>A			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	hg19	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307492	0.23821	2.27E-4	1.16E-4	ENSG00000108846	ENST00000513745	.	.	.	5.7	-0.425	0.12317	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28650	-1.0037	4	.	.	.	-6.2185	1.0684	0.01616	0.2099:0.2093:0.361:0.2199	.	.	.	.	R	256	.	.	G	+	1	0	ABCC3	46110181	0.079000	0.21365	0.999000	0.59377	0.994000	0.84299	-0.672000	0.05244	0.340000	0.23745	0.655000	0.94253	GGA		0.542	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		A	48755182	G	A	48755182	2	1	89	1	0	0	0	0	0	0	0	1	54	1103	39	1		1	ABCC3	17	48755182	Silent	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10	2932621	48755182	32440028	36	5958											
MED13	9969	hgsc.bcm.edu	37	17	60112944	60112944	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr17:60112944A>G	ENST00000397786.2	-	4	572	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L	Y_RNA_ENST00000363972.1_RNA	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	166					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCAAGAAAAAGGTGAAGGAG	0.373																																																0													90	81	84					17																	60112944		1896	4123	6019	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.496T>C	chr17.hg19:g.60112944A>G	ENSP00000380888:p.Phe166Leu		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	hg19	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	32	5.162757	0.94727	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.80653	-1.4	5.33	5.33	0.75918	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	D	0.90721	0.7088	M	0.87381	2.88	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	D	0.92397	0.5926	10	0.87932	D	0	-7.7639	15.5854	0.76479	1.0:0.0:0.0:0.0	.	166	Q9UHV7	MED13_HUMAN	L	166;165	ENSP00000380888:F166L	ENSP00000262436:F165L	F	-	1	0	MED13	57467726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.867000	0.92314	2.139000	0.66308	0.482000	0.46254	TTT		0.373	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		G	60112944	A	G	60112944	3	3	89	1	0	0	0	0	1	0	0	0	9432	72	3	3	6136	3	MED13	17	60112944	Missense_Mutation	SNP	A	TCGA-A4-A772-01A-11D-A33Q-10	11357762	60112944	21082266	37	5959											
SLC44A2	57153	hgsc.bcm.edu	37	19	10738606	10738606	+	Silent	SNP	T	T	C	rs376552555		TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr19:10738606T>C	ENST00000335757.5	+	4	547	c.171T>C	c.(169-171)caT>caC	p.H57H	SLC44A2_ENST00000407327.4_Silent_p.H55H|SLC44A2_ENST00000586078.1_Silent_p.H57H			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	57					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCTGGACTCATGGAGACCCTC	0.597																																																0								T	,	0,4406		0,0,2203	72	62	66		165,171	-4.8	0.9	19		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC44A2	NM_001145056.1,NM_020428.3	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	55/705,57/707	10738606	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.171T>C	chr19.hg19:g.10738606T>C			B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	hg19	CCDS12245.1																																																																																				0.597	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			C	10738606	T	C	10738606	2	2	89	1	0	0	0	0	0	0	0	1	14642	1461	51	3		3	SLC44A2	19	10738606	Silent	SNP	T	TCGA-A4-A772-01A-11D-A33Q-10		10738606	48390377	38	5960											
OR10H2	26538	hgsc.bcm.edu	37	19	15838984	15838984	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr19:15838984T>G	ENST00000305899.3	+	1	151	c.131T>G	c.(130-132)cTc>cGc	p.L44R		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GGCAACCTGCTCATCATGGCC	0.592																																																0													210	173	186					19																	15838984		2203	4297	6500	SO:0001583	missense	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.131T>G	chr19.hg19:g.15838984T>G	ENSP00000306095:p.Leu44Arg		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	hg19	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	16.26	3.074499	0.55646	.	.	ENSG00000171942	ENST00000305899	T	0.02863	4.13	2.88	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000469	T	0.17577	0.0422	H	0.94306	3.52	0.35461	D	0.796538	D	0.59357	0.985	D	0.65233	0.933	T	0.22521	-1.0214	10	0.87932	D	0	.	8.94	0.35725	0.0:0.0:0.0:1.0	.	44	O60403	O10H2_HUMAN	R	44	ENSP00000306095:L44R	ENSP00000306095:L44R	L	+	2	0	OR10H2	15699984	0.001000	0.12720	1.000000	0.80357	0.961000	0.63080	0.586000	0.23894	1.186000	0.42985	0.438000	0.28831	CTC		0.592	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			G	15838984	T	G	15838984	3	3	89	1	0	0	0	0	1	0	0	0	10908	1551	54	5	133	5	OR10H2	19	15838984	Missense_Mutation	SNP	T	TCGA-A4-A772-01A-11D-A33Q-10	5100378	15838984	43289999	39	5961											
HAMP	57817	hgsc.bcm.edu	37	19	35775707	35775707	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr19:35775707G>T	ENST00000598398.1	+	3	402	c.106G>T	c.(106-108)Gag>Tag	p.E36*	HAMP_ENST00000222304.3_Nonsense_Mutation_p.E36*	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	36					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACAACTTGCAGAGCTGCAACC	0.632																																																0													81	79	80					19																	35775707		2203	4300	6503	SO:0001587	stop_gained	57817			AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.106G>T	chr19.hg19:g.35775707G>T	ENSP00000471894:p.Glu36*		Q1HE14|Q9BY68	Nonsense_Mutation	SNP	ENST00000598398.1	hg19	CCDS12454.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825924	0.50739	.	.	ENSG00000105697	ENST00000222304	.	.	.	4.51	4.51	0.55191	.	0.875034	0.09823	N	0.751245	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.4081	12.6114	0.56554	0.0:0.0:1.0:0.0	.	.	.	.	X	36	.	ENSP00000222304:E36X	E	+	1	0	HAMP	40467547	0.001000	0.12720	0.009000	0.14445	0.004000	0.04260	0.677000	0.25262	2.348000	0.79779	0.561000	0.74099	GAG		0.632	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		T	35775707	G	T	35775707	4	4	89	1	0	0	0	0	0	1	0	0	6950	943	33	4	112	4	HAMP	19	35775707	Nonsense_Mutation	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10	19936723	35775707	23353276	40	5962											
MYH7B	57644	hgsc.bcm.edu	37	20	33586408	33586408	+	Silent	SNP	G	G	T			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr20:33586408G>T	ENST00000262873.7	+	32	4187	c.4095G>T	c.(4093-4095)cgG>cgT	p.R1365R		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1323						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGAGTTGCGGCGCCAGCTAG	0.632																																																0													32	37	36					20																	33586408		2075	4214	6289	SO:0001819	synonymous_variant	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4095G>T	chr20.hg19:g.33586408G>T			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	hg19	CCDS42869.1																																																																																				0.632	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		T	33586408	G	T	33586408	2	4	89	1	0	0	0	0	0	0	0	1	10042	1190	42	4		4	MYH7B	20	33586408	Silent	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10		33586408	29439112	41	5963											
SLCO4A1	28231	hgsc.bcm.edu	37	20	61299155	61299155	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr20:61299155C>A	ENST00000370507.1	+	7	1627	c.1531C>A	c.(1531-1533)Cag>Aag	p.Q511K	RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.Q511K|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	511	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CTGCAGCTGCCAGCCAGAACA	0.652																																					Pancreas(168;741 2006 10379 40139 45334)											0													68	66	66					20																	61299155		2203	4300	6503	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1531C>A	chr20.hg19:g.61299155C>A	ENSP00000359538:p.Gln511Lys		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	hg19	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	0.994	-0.692948	0.03303	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.04083	3.71;3.71	5.06	2.0	0.26442	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	1.148120	0.06393	N	0.717436	T	0.03959	0.0111	L	0.33245	0.995	0.09310	N	0.999998	B	0.06786	0.001	B	0.12156	0.007	T	0.47315	-0.9127	10	0.06099	T	0.92	.	5.8255	0.18550	0.0:0.5806:0.1286:0.2908	.	511	Q96BD0	SO4A1_HUMAN	K	511;511;511;363	ENSP00000217159:Q511K;ENSP00000359538:Q511K	ENSP00000217159:Q511K	Q	+	1	0	SLCO4A1	60769600	0.000000	0.05858	0.157000	0.22605	0.015000	0.08874	-0.466000	0.06672	0.143000	0.18926	0.655000	0.94253	CAG		0.652	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		A	61299155	C	A	61299155	3	1	89	1	0	0	0	0	1	0	0	0	14735	595	21	4	1557	4	SLCO4A1	20	61299155	Missense_Mutation	SNP	C	TCGA-A4-A772-01A-11D-A33Q-10	27712747	61299155	1726365	42	5964											
TRIOBP	11078	hgsc.bcm.edu	37	22	38153684	38153684	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chr22:38153684G>A	ENST00000406386.3	+	16	6007	c.5752G>A	c.(5752-5754)Gca>Aca	p.A1918T	TRIOBP_ENST00000407319.2_Missense_Mutation_p.A205T|TRIOBP_ENST00000403663.2_Missense_Mutation_p.A205T	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1918					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCCCTGAAGGCAGGGGAGCA	0.677																																																0													14	15	14					22																	38153684		2184	4289	6473	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5752G>A	chr22.hg19:g.38153684G>A	ENSP00000384312:p.Ala1918Thr		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	hg19	CCDS43015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.919|4.919	0.170774|0.170774	0.09391|0.09391	.|.	.|.	ENSG00000100106|ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857|ENST00000428075	T|.	0.20881|.	2.04|.	5.5|5.5	2.09|2.09	0.27110|0.27110	.|.	.|.	.|.	.|.	.|.	T|T	0.34629|0.34629	0.0904|0.0904	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999996|0.999996	B;B;B|.	0.25486|.	0.007;0.04;0.127|.	B;B;B|.	0.19148|.	0.007;0.009;0.024|.	T|T	0.24621|0.24621	-1.0155|-1.0155	9|5	0.15952|.	T|.	0.53|.	.|.	3.9861|3.9861	0.09516|0.09516	0.1377:0.2332:0.5093:0.1199|0.1377:0.2332:0.5093:0.1199	.|.	205;205;1918|.	F8W6V6;F2Z2W0;Q9H2D6|.	.;.;TARA_HUMAN|.	T|D	1918;205;205;164;134|158	ENSP00000384312:A1918T|.	ENSP00000386026:A205T|.	A|G	+|+	1|2	0|0	TRIOBP|TRIOBP	36483630|36483630	0.004000|0.004000	0.15560|0.15560	0.612000|0.612000	0.29024|0.29024	0.312000|0.312000	0.27988|0.27988	-0.063000|-0.063000	0.11655|0.11655	0.652000|0.652000	0.30806|0.30806	-0.315000|-0.315000	0.08773|0.08773	GCA|GGC		0.677	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			A	38153684	G	A	38153684	3	1	89	1	0	0	0	0	1	0	0	0	16558	1203	42	2	5993	2	TRIOBP	22	38153684	Missense_Mutation	SNP	G	TCGA-A4-A772-01A-11D-A33Q-10		38153684	13150882	43	5965											
PNPLA4	8228	hgsc.bcm.edu	37	X	7894062	7894062	+	Silent	SNP	C	C	G			TCGA-A4-A772-01A-11D-A33Q-10	TCGA-A4-A772-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	e7e4d69c-b66c-4aa5-b7ac-573ab82472ff	280b0962-0e12-4148-b679-dd642d7f0b3e	g.chrX:7894062C>G	ENST00000381042.4	-	2	269	c.99G>C	c.(97-99)gtG>gtC	p.V33V	PNPLA4_ENST00000444736.1_Silent_p.V33V|PNPLA4_ENST00000537427.1_Intron	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	33	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGACATCCTTCACAAGTTTTT	0.458											OREG0019651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													94	78	84					X																	7894062		2203	4299	6502	SO:0001819	synonymous_variant	8228			U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.99G>C	chrX.hg19:g.7894062C>G		645	A8K1H3|B4E362|Q8WW83	Silent	SNP	ENST00000381042.4	hg19	CCDS14129.1																																																																																				0.458	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		G	7894062	C	G	7894062	2	3	89	1	0	0	0	0	0	0	0	1	12169	813	29	4		4	PNPLA4	23	7894062	Silent	SNP	C	TCGA-A4-A772-01A-11D-A33Q-10		7894062	147376498	44	5966											
MOV10	4343	hgsc.bcm.edu	37	1	113236732	113236732	+	Silent	SNP	C	C	T			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr1:113236732C>T	ENST00000413052.2	+	8	1623	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Silent_p.I411I|MOV10_ENST00000369645.1_Silent_p.I411I|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369644.1_Silent_p.I355I	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	411					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGGACCCCATCACATATAAGG	0.577																																																0													139	134	136					1																	113236732		2203	4300	6503	SO:0001819	synonymous_variant	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1233C>T	chr1.hg19:g.113236732C>T			Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	hg19	CCDS853.1																																																																																				0.577	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		T	113236732	C	T	113236732	2	4	90	1	0	0	0	0	0	0	0	1	9720	816	29	2		2	MOV10	1	113236732	Silent	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10		113236732	136013889	1	5967											
SYCP1	6847	hgsc.bcm.edu	37	1	115488960	115488960	+	Silent	SNP	T	T	C			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr1:115488960T>C	ENST00000369522.3	+	26	2445	c.2205T>C	c.(2203-2205)taT>taC	p.Y735Y	SYCP1_ENST00000369518.1_Silent_p.Y735Y	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	735					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGGACTTTATAAGAGCAAAG	0.328																																																0													67	70	69					1																	115488960		2203	4300	6503	SO:0001819	synonymous_variant	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2205T>C	chr1.hg19:g.115488960T>C			O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	hg19	CCDS879.1																																																																																				0.328	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		C	115488960	T	C	115488960	2	2	90	1	0	0	0	0	0	0	0	1	15436	1413	49	3		3	SYCP1	1	115488960	Silent	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10	2252228	115488960	133761661	2	5968											
CFHR5	81494	hgsc.bcm.edu	37	1	196952181	196952181	+	Silent	SNP	A	A	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr1:196952181A>G	ENST00000256785.4	+	2	334	c.225A>G	c.(223-225)gaA>gaG	p.E75E	CFHR5_ENST00000367414.5_Silent_p.E99E			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	75	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GCACAGAAGAAGGATGGTCAC	0.408																																																0													122	106	111					1																	196952181		2203	4300	6503	SO:0001819	synonymous_variant	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.225A>G	chr1.hg19:g.196952181A>G			Q2NKK2	Silent	SNP	ENST00000256785.4	hg19	CCDS1387.1																																																																																				0.408	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		G	196952181	A	G	196952181	2	3	90	1	0	0	0	0	0	0	0	1	3290	69	3	3		3	CFHR5	1	196952181	Silent	SNP	A	TCGA-A4-A7UZ-01A-12D-A34Z-10	81463221	196952181	52298440	3	5969											
PIK3C2B	5287	hgsc.bcm.edu	37	1	204433195	204433198	+	Frame_Shift_Del	DEL	CATT	CATT	-			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	CATT	CATT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr1:204433195_204433198delCATT	ENST00000367187.3	-	6	1808_1811	c.1252_1255delAATG	c.(1252-1257)aatgtgfs	p.NV418fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.NV418fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	418	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCCACGTCCACATTCCTCAGGTCA	0.539																																																0																																										SO:0001589	frameshift_variant	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1252_1255delAATG	chr1.hg19:g.204433195_204433198delCATT	ENSP00000356155:p.Asn418fs		O95666|Q5SW99	Frame_Shift_Del	DEL	ENST00000367187.3	hg19	CCDS1446.1																																																																																				0.539	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		-	204433198	CATT	-	204433195	7	5	90	1	0	1	0	1	0	0	0	0	11912	478	17	0	3765	0	PIK3C2B	1	204433195	Frame_Shift_Del	DEL	CATT	TCGA-A4-A7UZ-01A-12D-A34Z-10	7481014	204433195	44817426	4	5970											
OR2T4	127074	hgsc.bcm.edu	37	1	248524967	248524969	+	In_Frame_Del	DEL	ATG	ATG	-	rs200915140	byFrequency	TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	ATG	ATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr1:248524967_248524969delATG	ENST00000366475.1	+	1	85_87	c.85_87delATG	c.(85-87)atgdel	p.M29del		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAACATCCAATGGCCAATATCA	0.498																																																0																																										SO:0001651	inframe_deletion	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.85_87delATG	chr1.hg19:g.248524967_248524969delATG	ENSP00000355431:p.Met29del		Q6IEZ8	In_Frame_Del	DEL	ENST00000366475.1	hg19	CCDS31113.1																																																																																				0.498	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		-	248524969	ATG	-	248524967	7	5	90	1	0	1	0	1	0	0	0	0	11029	101	4	0	87	0	OR2T4	1	248524967	In_Frame_Del	DEL	ATG	TCGA-A4-A7UZ-01A-12D-A34Z-10	44091772	248524967	725654	5	5971											
ARHGEF4	50649	hgsc.bcm.edu	37	2	131803640	131803640	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr2:131803640C>A	ENST00000326016.5	+	14	2470	c.1951C>A	c.(1951-1953)Cag>Aag	p.Q651K	ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Q591K|ARHGEF4_ENST00000392953.3_3'UTR|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q580K|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.Q153K	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	651					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCTGACGCGCCAGAAGCACCC	0.677																																																0													52	63	60					2																	131803640		2203	4300	6503	SO:0001583	missense	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1951C>A	chr2.hg19:g.131803640C>A	ENSP00000316845:p.Gln651Lys		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	hg19	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354512	0.82243	.	.	ENSG00000136002	ENST00000326016;ENST00000438985;ENST00000428230;ENST00000409303;ENST00000355771	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.71	5.71	0.89125	.	0.059818	0.64402	D	0.000002	T	0.38878	0.1057	M	0.61703	1.905	0.80722	D	1	P;P	0.41420	0.616;0.749	B;B	0.38264	0.199;0.269	T	0.19582	-1.0301	10	0.36615	T	0.2	.	17.337	0.87285	0.0:1.0:0.0:0.0	.	591;651	E9PEM0;Q9NR80	.;ARHG4_HUMAN	K	651;333;153;591;580	ENSP00000316845:Q651K;ENSP00000389661:Q333K;ENSP00000398455:Q153K;ENSP00000387285:Q591K;ENSP00000348017:Q580K	ENSP00000316845:Q651K	Q	+	1	0	ARHGEF4	131520110	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.251000	0.78297	2.700000	0.92200	0.462000	0.41574	CAG		0.677	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			A	131803640	C	A	131803640	3	1	90	1	0	0	0	0	1	0	0	0	908	595	21	4	2089	4	ARHGEF4	2	131803640	Missense_Mutation	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10		131803640	111395733	6	5972											
IRS1	3667	hgsc.bcm.edu	37	2	227661691	227661691	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr2:227661691T>A	ENST00000305123.5	-	1	2784	c.1764A>T	c.(1762-1764)gaA>gaT	p.E588D	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	588					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGGGGTGCATTTCCAGACCCT	0.687											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													33	35	34					2																	227661691		2203	4299	6502	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1764A>T	chr2.hg19:g.227661691T>A	ENSP00000304895:p.Glu588Asp	2321		Missense_Mutation	SNP	ENST00000305123.5	hg19	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	T	0.689	-0.795221	0.02862	.	.	ENSG00000169047	ENST00000305123	T	0.55588	0.51	4.98	-2.09	0.07232	.	0.080047	0.52532	D	0.000061	T	0.18882	0.0453	N	0.02916	-0.46	0.24828	N	0.992544	B	0.19200	0.034	B	0.14023	0.01	T	0.35624	-0.9781	10	0.02654	T	1	-14.305	9.8521	0.41064	0.0:0.5701:0.1155:0.3144	.	588	P35568	IRS1_HUMAN	D	588	ENSP00000304895:E588D	ENSP00000304895:E588D	E	-	3	2	IRS1	227369935	0.067000	0.21026	0.981000	0.43875	0.963000	0.63663	-0.781000	0.04648	-0.222000	0.09958	0.459000	0.35465	GAA		0.687	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		A	227661691	T	A	227661691	3	1	90	1	0	0	0	0	1	0	0	0	7842	1838	64	5	1968	5	IRS1	2	227661691	Missense_Mutation	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10	95858051	227661691	15537682	7	5973											
MLH1	4292	hgsc.bcm.edu	37	3	37092015	37092015	+	Missense_Mutation	SNP	G	G	T	rs63750978		TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr3:37092015G>T	ENST00000231790.2	+	19	2358	c.2142G>T	c.(2140-2142)tgG>tgT	p.W714C	MLH1_ENST00000539477.1_Missense_Mutation_p.W473C|MLH1_ENST00000536378.1_Intron|MLH1_ENST00000458205.2_Missense_Mutation_p.W473C|MLH1_ENST00000435176.1_Missense_Mutation_p.W616C|MLH1_ENST00000455445.2_Missense_Mutation_p.W473C	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	714					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CCTGGAAGTGGACTGTGGAAC	0.468		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	1	Whole gene deletion(1)	ovary(1)	GRCh37	CM960977	MLH1	M	rs63750978						106	96	99					3																	37092015		2203	4300	6503	SO:0001583	missense	4292	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	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.2142G>T	chr3.hg19:g.37092015G>T	ENSP00000231790:p.Trp714Cys		B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	hg19	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.543467|4.543467	0.86022|0.86022	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000396438;ENST00000456676;ENST00000413740|ENST00000231790;ENST00000383761;ENST00000421440;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176	D|D;D;D;D;D	0.96745|0.93906	-4.11|-3.31;-3.31;-3.31;-3.31;-3.31	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97495|0.97495	0.9180|0.9180	M|M	0.91768|0.91768	3.24|3.24	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.77557	.|0.99;0.977;0.977;0.977;0.983	D|D	0.98012|0.98012	1.0366|1.0366	7|10	0.87932|0.66056	D|D	0|0.02	-9.6335|-9.6335	19.2553|19.2553	0.93944|0.93944	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|616;714;473;714;714	.|E9PCU2;B2R6K0;B4DI13;Q53GX1;P40692	.|.;.;.;.;MLH1_HUMAN	V|C	112;637;110|714;509;132;473;473;473;616	ENSP00000416476:G110V|ENSP00000231790:W714C;ENSP00000402667:W473C;ENSP00000443665:W473C;ENSP00000398272:W473C;ENSP00000402564:W616C	ENSP00000379715:G112V|ENSP00000231790:W714C	G|W	+|+	2|3	0|0	MLH1|MLH1	37067019|37067019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.572000|9.572000	0.98179|0.98179	2.557000|2.557000	0.86248|0.86248	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.468	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		T	37092015	G	T	37092015	3	4	90	1	0	0	0	0	1	0	0	0	9619	1183	41	4	2216	4	MLH1	3	37092015	Missense_Mutation	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10		37092015	160930415	8	5974											
DNAH1	25981	hgsc.bcm.edu	37	3	52397032	52397032	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr3:52397032A>G	ENST00000420323.2	+	32	5377	c.5116A>G	c.(5116-5118)Atg>Gtg	p.M1706V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1706	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCCGTGGCCATGATGGTTCC	0.552																																																0													193	198	196					3																	52397032		2137	4254	6391	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5116A>G	chr3.hg19:g.52397032A>G	ENSP00000401514:p.Met1706Val		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.439957	0.83885	.	.	ENSG00000114841	ENST00000420323	T	0.36340	1.26	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000003	T	0.65626	0.2709	M	0.88512	2.96	0.58432	D	0.999997	D	0.76494	0.999	D	0.76575	0.988	T	0.73770	-0.3878	10	0.87932	D	0	.	14.7323	0.69391	1.0:0.0:0.0:0.0	.	1706	C9JXH6	.	V	1706	ENSP00000401514:M1706V	ENSP00000401514:M1706V	M	+	1	0	DNAH1	52372072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.147000	0.71783	2.080000	0.62538	0.533000	0.62120	ATG		0.552	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		G	52397032	A	G	52397032	3	3	90	1	0	0	0	0	1	0	0	0	4599	217	8	3	5238	3	DNAH1	3	52397032	Missense_Mutation	SNP	A	TCGA-A4-A7UZ-01A-12D-A34Z-10	15305017	52397032	145625398	9	5975											
EIF4A2	1974	hgsc.bcm.edu	37	3	186505347	186505348	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr3:186505347_186505348insA	ENST00000323963.5	+	9	1037_1038	c.973_974insA	c.(973-975)cgtfs	p.R325fs	EIF4A2_ENST00000440191.2_Frame_Shift_Ins_p.R326fs|EIF4A2_ENST00000356531.5_Frame_Shift_Ins_p.R230fs|SNORA63_ENST00000363548.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORD2_ENST00000459163.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	325	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AGGGTCAAGTCGTGTTCTGATC	0.396			T	BCL6	NHL																																		Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0																																										SO:0001589	frameshift_variant	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	Exception_encountered	chr3.hg19:g.186505347_186505348insA	ENSP00000326381:p.Arg325fs		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Frame_Shift_Ins	INS	ENST00000323963.5	hg19	CCDS3282.1																																																																																				0.396	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		A	186505348	-	A	186505347	7	5	90	1	0	1	1	0	0	0	0	0	5027	884	31	0	1007	0	EIF4A2	3	186505347	Frame_Shift_Ins	INS	-	TCGA-A4-A7UZ-01A-12D-A34Z-10	134108315	186505347	11517083	10	5976											
ANKRD17	26057	hgsc.bcm.edu	37	4	73986056	73986056	+	Splice_Site	SNP	T	T	C			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr4:73986056T>C	ENST00000358602.4	-	21	3966		c.e21-2		ANKRD17_ENST00000514252.1_Splice_Site|ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGACCAGTCTAAGTTTAGTG	0.398																																																0													55	52	53					4																	73986056		2203	4300	6503	SO:0001630	splice_region_variant	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3850-2A>G	chr4.hg19:g.73986056T>C			E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Splice_Site	SNP	ENST00000358602.4	hg19	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294121	0.81025	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9332	0.79683	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD17	74204920	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	8.040000	0.89188	2.164000	0.68074	0.477000	0.44152	.		0.398	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	Intron	C	73986056	T	C	73986056	5	2	90	1	0	0	0	0	0	0	1	0	646	1536	53	3	4019	3	ANKRD17	4	73986056	Splice_Site	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10		73986056	117168220	11	5977											
CENPE	1062	hgsc.bcm.edu	37	4	104064497	104064497	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr4:104064497C>G	ENST00000265148.3	-	34	5301	c.5212G>C	c.(5212-5214)Gat>Cat	p.D1738H	CENPE_ENST00000380026.3_Missense_Mutation_p.D1713H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1738					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.D1738H(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTAGTTTATCAATAGTTTCT	0.303																																																1	Substitution - Missense(1)	lung(1)											170	169	169					4																	104064497		2203	4298	6501	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5212G>C	chr4.hg19:g.104064497C>G	ENSP00000265148:p.Asp1738His		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	hg19	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706339	0.30232	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72282	-0.64;-0.64	5.16	3.42	0.39159	.	.	.	.	.	T	0.73289	0.3568	L	0.48642	1.525	0.09310	N	1	D;B	0.57257	0.979;0.376	P;B	0.57911	0.829;0.08	T	0.61317	-0.7087	9	0.56958	D	0.05	.	7.6167	0.28163	0.0:0.8007:0.0:0.1993	.	1713;1738	Q02224-3;Q02224	.;CENPE_HUMAN	H	1738;1738;1713	ENSP00000265148:D1738H;ENSP00000369365:D1713H	ENSP00000265148:D1738H	D	-	1	0	CENPE	104283946	0.000000	0.05858	0.053000	0.19242	0.428000	0.31595	0.140000	0.16056	0.665000	0.31066	0.643000	0.83706	GAT		0.303	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	104064497	C	G	104064497	3	3	90	1	0	0	0	0	1	0	0	0	3232	826	29	4	2957	4	CENPE	4	104064497	Missense_Mutation	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10	30078441	104064497	87089779	12	5978											
LNPEP	4012	hgsc.bcm.edu	37	5	96315035	96315035	+	Silent	SNP	G	G	A			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr5:96315035G>A	ENST00000231368.5	+	2	905	c.213G>A	c.(211-213)gaG>gaA	p.E71E	LNPEP_ENST00000395770.3_Silent_p.E57E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	71					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGGATTATGAGTCATCAGCAA	0.547																																																0													77	82	80					5																	96315035		2203	4300	6503	SO:0001819	synonymous_variant	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.213G>A	chr5.hg19:g.96315035G>A			O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	hg19	CCDS4087.1																																																																																				0.547	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		A	96315035	G	A	96315035	2	1	90	1	0	0	0	0	0	0	0	1	8866	1020	36	2		2	LNPEP	5	96315035	Silent	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10		96315035	84600225	13	5979											
AQPEP	206338	hgsc.bcm.edu	37	5	115350221	115350221	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr5:115350221A>C	ENST00000357872.4	+	16	2571	c.2447A>C	c.(2446-2448)aAt>aCt	p.N816T	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		816						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CATCCAGAAAATGAGTAAGAG	0.388																																																0													88	84	85					5																	115350221		2202	4300	6502	SO:0001583	missense	0																														ENST00000357872.4:c.2447A>C	chr5.hg19:g.115350221A>C	ENSP00000350541:p.Asn816Thr		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	hg19	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	A	5.191	0.220737	0.09863	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.05447	3.44	5.37	1.42	0.22433	.	0.797068	0.10818	N	0.630826	T	0.06371	0.0164	L	0.42686	1.345	0.19300	N	0.999976	B	0.10296	0.003	B	0.10450	0.005	T	0.32561	-0.9902	10	0.54805	T	0.06	.	5.9133	0.19041	0.575:0.3337:0.0914:0.0	.	816	Q6Q4G3	AMPQ_HUMAN	T	816;805	ENSP00000350541:N816T	ENSP00000350541:N816T	N	+	2	0	AC010282.1	115378120	0.768000	0.28519	0.784000	0.31847	0.077000	0.17291	1.419000	0.34793	0.851000	0.35264	0.482000	0.46254	AAT		0.388	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			C	115350221	A	C	115350221	3	2	90	1	0	0	0	0	1	0	0	0	834	101	4	5	2509	5	AQPEP	5	115350221	Missense_Mutation	SNP	A	TCGA-A4-A7UZ-01A-12D-A34Z-10	19035186	115350221	65565039	14	5980											
BTN3A1	11119	hgsc.bcm.edu	37	6	26411792	26411792	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr6:26411792A>G	ENST00000289361.6	+	9	1369	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	BTN3A1_ENST00000425234.2_Missense_Mutation_p.K334R|BTN3A1_ENST00000476549.2_Missense_Mutation_p.K334R|BTN3A1_ENST00000414912.2_Missense_Mutation_p.K282R	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	334	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAATGGAAAAAGGCCCTCTTC	0.438																																																0													185	156	166					6																	26411792		2203	4300	6503	SO:0001583	missense	11119			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1001A>G	chr6.hg19:g.26411792A>G	ENSP00000289361:p.Lys334Arg		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	hg19	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.703738	0.00096	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.60424	3.8;0.19;3.71;0.19	1.32	-2.63	0.06133	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.11495	0.0280	N	0.26130	0.795	0.09310	N	1	B;B;B;B	0.13145	0.0;0.007;0.002;0.0	B;B;B;B	0.12156	0.001;0.007;0.003;0.001	T	0.23440	-1.0188	9	0.08837	T	0.75	.	2.5592	0.04768	0.3119:0.2317:0.0:0.4564	.	282;334;334;334	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	R	334;334;334;282	ENSP00000420010:K334R;ENSP00000289361:K334R;ENSP00000396684:K334R;ENSP00000406667:K282R	ENSP00000289361:K334R	K	+	2	0	BTN3A1	26519771	0.003000	0.15002	0.001000	0.08648	0.050000	0.14768	-2.542000	0.00935	-1.617000	0.01570	-1.416000	0.01114	AAG		0.438	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			G	26411792	A	G	26411792	3	3	90	1	0	0	0	0	1	0	0	0	1564	72	3	3	1031	3	BTN3A1	6	26411792	Missense_Mutation	SNP	A	TCGA-A4-A7UZ-01A-12D-A34Z-10		26411792	144703275	15	5981											
OR2J2	26707	hgsc.bcm.edu	37	6	29141971	29141971	+	Missense_Mutation	SNP	C	C	T	rs371365216		TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr6:29141971C>T	ENST00000377167.2	+	1	661	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AGCACTTCTGCGTTTATCATG	0.443																																																0								C	CYS/ARG	1,3883		0,1,1941	171	149	156		559	-4.2	0	6		156	0,8302		0,0,4151	no	missense	OR2J2	NM_030905.2	180	0,1,6092	TT,TC,CC		0.0,0.0257,0.0082	probably-damaging	187/313	29141971	1,12185	1942	4151	6093	SO:0001583	missense	26707				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.559C>T	chr6.hg19:g.29141971C>T	ENSP00000366372:p.Arg187Cys		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	hg19	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328083	0.24080	2.57E-4	0.0	ENSG00000204700	ENST00000377167	T	0.00158	8.65	2.3	-4.17	0.03857	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	L	0.53671	1.685	0.09310	N	1	D	0.65815	0.995	D	0.63192	0.912	T	0.49293	-0.8955	9	0.87932	D	0	.	1.8745	0.03215	0.4347:0.2998:0.1449:0.1206	.	187	O76002	OR2J2_HUMAN	C	187	ENSP00000366372:R187C	ENSP00000366372:R187C	R	+	1	0	OR2J2	29249950	0.000000	0.05858	0.015000	0.15790	0.438000	0.31896	-1.750000	0.01822	-0.693000	0.05121	0.205000	0.17691	CGT		0.443	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			T	29141971	C	T	29141971	3	4	90	1	0	0	0	0	1	0	0	0	11005	768	27	1	561	1	OR2J2	6	29141971	Missense_Mutation	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10	2730179	29141971	141973096	16	5982											
GJB7	375519	hgsc.bcm.edu	37	6	87994224	87994224	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr6:87994224A>G	ENST00000525899.1	-	3	752	c.407T>C	c.(406-408)aTt>aCt	p.I136T	GJB7_ENST00000296882.3_Missense_Mutation_p.I136T	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	136					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		AAGGAAGCCAATTTCAAAACC	0.403																																																0													77	77	77					6																	87994224		2203	4300	6503	SO:0001583	missense	375519			AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"Ion channels / Gap junction proteins (connexins)"	16690	protein-coding gene	gene with protein product	"connexin 25"	611921	"gap junction protein, beta 7"				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.407T>C	chr6.hg19:g.87994224A>G	ENSP00000435355:p.Ile136Thr		B3KXL0|Q96KP0	Missense_Mutation	SNP	ENST00000525899.1	hg19	CCDS5008.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803020	0.31869	.	.	ENSG00000164411	ENST00000525899;ENST00000296882;ENST00000369576	D;D;D	0.95622	-3.76;-3.76;-3.76	4.71	4.71	0.59529	Gap junction protein, cysteine-rich domain (1);	0.368503	0.24240	U	0.040275	D	0.91348	0.7271	M	0.70903	2.155	0.24359	N	0.994881	B	0.19583	0.037	B	0.22152	0.038	D	0.87908	0.2695	10	0.62326	D	0.03	.	13.0176	0.58766	1.0:0.0:0.0:0.0	.	136	Q6PEY0	CXB7_HUMAN	T	136	ENSP00000435355:I136T;ENSP00000296882:I136T;ENSP00000358589:I136T	ENSP00000296882:I136T	I	-	2	0	GJB7	88050943	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.955000	0.56715	1.751000	0.51876	0.379000	0.24179	ATT		0.403	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394780.1			G	87994224	A	G	87994224	3	3	90	1	0	0	0	0	1	0	0	0	6415	101	4	3	268	3	GJB7	6	87994224	Missense_Mutation	SNP	A	TCGA-A4-A7UZ-01A-12D-A34Z-10	58852253	87994224	83120843	17	5983											
CRHR2	1395	hgsc.bcm.edu	37	7	30702464	30702464	+	Splice_Site	SNP	C	C	T			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr7:30702464C>T	ENST00000471646.1	-	6	961		c.e6-1		CRHR2_ENST00000341843.4_Splice_Site|CRHR2_ENST00000506074.2_Splice_Site|CRHR2_ENST00000348438.4_Splice_Site	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCACCAGACCTGTGTGCAGG	0.587																																																0													84	61	69					7																	30702464		2203	4300	6503	SO:0001630	splice_region_variant	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.544-1G>A	chr7.hg19:g.30702464C>T			B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Splice_Site	SNP	ENST00000471646.1	hg19	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070432	0.76301	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0535	0.86526	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CRHR2	30668989	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.493000	0.81493	2.717000	0.92951	0.655000	0.94253	.		0.587	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3		Intron	T	30702464	C	T	30702464	5	4	90	1	0	0	0	0	0	0	1	0	3874	695	24	2	720	2	CRHR2	7	30702464	Splice_Site	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10		30702464	128436199	18	5984											
MUC17	140453	hgsc.bcm.edu	37	7	100692139	100692139	+	Silent	SNP	T	T	C			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr7:100692139T>C	ENST00000306151.4	+	5	12613	c.12549T>C	c.(12547-12549)acT>acC	p.T4183T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4183					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCGGAGACTATCTCTGCCC	0.522																																																0													101	90	94					7																	100692139		2203	4300	6503	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12549T>C	chr7.hg19:g.100692139T>C			O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	hg19	CCDS34711.1																																																																																				0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100692139	T	C	100692139	2	2	90	1	0	0	0	0	0	0	0	1	9976	1509	53	3		3	MUC17	7	100692139	Silent	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10	69989675	100692139	58446524	19	5985											
SYPL1	6856	hgsc.bcm.edu	37	7	105752601	105752601	+	Silent	SNP	G	G	A			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr7:105752601G>A	ENST00000011473.2	-	2	154	c.108C>T	c.(106-108)atC>atT	p.I36I	SYPL1_ENST00000470347.1_Silent_p.I18I|SYPL1_ENST00000455385.2_Silent_p.I18I	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	36	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CGAGGACCTTGATGAAGCCGA	0.697																																																0													35	36	35					7																	105752601		2203	4300	6503	SO:0001819	synonymous_variant	6856				CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"synaptophysin-like protein"	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.108C>T	chr7.hg19:g.105752601G>A			A4D0R2|Q96AR8	Silent	SNP	ENST00000011473.2	hg19	CCDS5736.1																																																																																				0.697	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1			A	105752601	G	A	105752601	2	1	90	1	0	0	0	0	0	0	0	1	15467	1280	45	2		2	SYPL1	7	105752601	Silent	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10	5060462	105752601	53386062	20	5986											
ADAM18	8749	hgsc.bcm.edu	37	8	39468142	39468142	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr8:39468142G>C	ENST00000265707.5	+	6	484	c.439G>C	c.(439-441)Gat>Cat	p.D147H	ADAM18_ENST00000520772.1_Missense_Mutation_p.D147H|ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Missense_Mutation_p.D147H	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	147					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GAAAAATAATGATCCAAATGT	0.333																																																0													51	52	52					8																	39468142		2203	4298	6501	SO:0001583	missense	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.439G>C	chr8.hg19:g.39468142G>C	ENSP00000265707:p.Asp147His		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	hg19	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	9.536	1.112036	0.20795	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000520772;ENST00000522198	T;T;T	0.12465	5.24;4.8;2.68	5.25	-2.98	0.05513	.	0.836611	0.10471	N	0.670788	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.005;0.003;0.008	B;B;B	0.17433	0.018;0.008;0.014	T	0.35847	-0.9772	10	0.44086	T	0.13	.	5.278	0.15661	0.3482:0.3014:0.3504:0.0	.	147;147;147	Q9Y3Q7-2;Q9Y3Q7;Q6IRW9	.;ADA18_HUMAN;.	H	147;147;147;103	ENSP00000265707:D147H;ENSP00000369195:D147H;ENSP00000429908:D147H	ENSP00000265707:D147H	D	+	1	0	ADAM18	39587299	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.482000	0.22276	-0.700000	0.05070	-0.302000	0.09304	GAT		0.333	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		C	39468142	G	C	39468142	3	2	90	1	0	0	0	0	1	0	0	0	239	1290	45	4	461	4	ADAM18	8	39468142	Missense_Mutation	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10		39468142	106895880	21	5987											
IFNA2	3440	hgsc.bcm.edu	37	9	21385222	21385222	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr9:21385222C>T	ENST00000380206.2	-	1	174	c.107G>A	c.(106-108)aGg>aAg	p.R36K		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	36					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CATCAAGGTCCTCCTGCTACC	0.537																																																0													113	109	110					9																	21385222		2203	4300	6503	SO:0001583	missense	3440				CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"Interferons"	5423	protein-coding gene	gene with protein product	"alpha-2a interferon", "interferon alpha 2b", "interferon alpha A"	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.107G>A	chr9.hg19:g.21385222C>T	ENSP00000369554:p.Arg36Lys		H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	ENST00000380206.2	hg19	CCDS6506.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432634	0.25813	.	.	ENSG00000188379	ENST00000380206	T	0.03242	4.0	3.24	1.01	0.19927	.	0.727652	0.13301	N	0.398209	T	0.04048	0.0113	L	0.49455	1.56	0.09310	N	1	B	0.10296	0.003	B	0.24974	0.057	T	0.40270	-0.9572	10	0.38643	T	0.18	.	3.0905	0.06293	0.0:0.4701:0.231:0.2989	.	36	Q6DJX8	.	K	36	ENSP00000369554:R36K	ENSP00000369554:R36K	R	-	2	0	IFNA2	21375222	0.000000	0.05858	0.015000	0.15790	0.209000	0.24338	-0.746000	0.04829	0.528000	0.28580	0.484000	0.47621	AGG		0.537	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051903.1	NM_000605		T	21385222	C	T	21385222	3	4	90	1	0	0	0	0	1	0	0	0	7539	681	24	2	463	2	IFNA2	9	21385222	Missense_Mutation	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10		21385222	119828209	22	5988											
ALDOB	229	hgsc.bcm.edu	37	9	104187772	104187773	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr9:104187772_104187773insA	ENST00000374855.4	-	7	885_886	c.761_762insT	c.(760-762)gtafs	p.V254fs	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	254					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGAGAGCTGTTACGGTGGCCAT	0.51																																																0																																										SO:0001589	frameshift_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.762dupT	chr9.hg19:g.104187773_104187773dupA	ENSP00000363988:p.Val254fs		Q13741|Q13742|Q5T7D6	Frame_Shift_Ins	INS	ENST00000374855.4	hg19	CCDS6756.1																																																																																				0.51	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			A	104187773	-	A	104187772	7	5	90	1	0	1	1	0	0	0	0	0	508	1741	61	0	344	0	ALDOB	9	104187772	Frame_Shift_Ins	INS	-	TCGA-A4-A7UZ-01A-12D-A34Z-10	82802550	104187772	37025659	23	5989											
RC3H2	54542	hgsc.bcm.edu	37	9	125612089	125612089	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr9:125612089T>G	ENST00000373670.1	-	20	3993	c.3393A>C	c.(3391-3393)aaA>aaC	p.K1131N	RC3H2_ENST00000357244.2_Missense_Mutation_p.K1131N			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1131					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCAGAATTGTTTTTTGCTCCT	0.413																																																0													53	51	52					9																	125612089		1849	4092	5941	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3393A>C	chr9.hg19:g.125612089T>G	ENSP00000362774:p.Lys1131Asn		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	hg19	CCDS43874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.83|16.83	3.231922|3.231922	0.58777|0.58777	.|.	.|.	ENSG00000056586|ENSG00000056586	ENST00000373670;ENST00000357244|ENST00000454740	T;T|.	0.50277|.	0.75;0.75|.	5.57|5.57	4.42|4.42	0.53409|0.53409	.|.	0.143354|.	0.48286|.	D|.	0.000191|.	T|T	0.33118|0.33118	0.0852|0.0852	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|.	0.57899|.	0.981|.	D|.	0.67231|.	0.95|.	T|T	0.09465|0.09465	-1.0673|-1.0673	10|5	0.87932|.	D|.	0|.	-17.8216|-17.8216	9.2704|9.2704	0.37668|0.37668	0.0:0.0817:0.0:0.9183|0.0:0.0817:0.0:0.9183	.|.	1131|.	Q9HBD1|.	RC3H2_HUMAN|.	N|H	1131|184	ENSP00000362774:K1131N;ENSP00000349783:K1131N|.	ENSP00000349783:K1131N|.	K|N	-|-	3|1	2|0	RC3H2|RC3H2	124651910|124651910	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.894000|0.894000	0.52154|0.52154	1.967000|1.967000	0.40491|0.40491	0.939000|0.939000	0.37446|0.37446	0.460000|0.460000	0.39030|0.39030	AAA|AAC		0.413	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		G	125612089	T	G	125612089	3	3	90	1	0	0	0	0	1	0	0	0	13173	1838	64	5	186	5	RC3H2	9	125612089	Missense_Mutation	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10	21424317	125612089	15601342	24	5990											
KAZALD1	81621	hgsc.bcm.edu	37	10	102824381	102824381	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr10:102824381G>T	ENST00000370200.5	+	4	1122	c.796G>T	c.(796-798)Gct>Tct	p.A266S		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	266	Ig-like C2-type.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)				endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GGAGGCCCCTGCTAGCTTGAC	0.582																																																0													51	49	50					10																	102824381		2203	4300	6503	SO:0001583	missense	81621			AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"Immunoglobulin superfamily / I-set domain containing"	25460	protein-coding gene	gene with protein product		609208	"Kazal-type serine protease inhibitor domain 1"			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918	ENST00000370200.5:c.796G>T	chr10.hg19:g.102824381G>T	ENSP00000359219:p.Ala266Ser		D3DR74|Q6ZMB1|Q9BQ73	Missense_Mutation	SNP	ENST00000370200.5	hg19	CCDS7509.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318477	0.95682	.	.	ENSG00000107821	ENST00000370200	T	0.70516	-0.49	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86121	0.5857	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86242	0.1644	10	0.52906	T	0.07	-1.6084	19.8575	0.96767	0.0:0.0:1.0:0.0	.	266	Q96I82	KAZD1_HUMAN	S	266	ENSP00000359219:A266S	ENSP00000359219:A266S	A	+	1	0	KAZALD1	102814371	1.000000	0.71417	0.959000	0.39883	0.953000	0.61014	9.821000	0.99360	2.698000	0.92095	0.561000	0.74099	GCT		0.582	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049891.2	NM_030929		T	102824381	G	T	102824381	3	4	90	1	0	0	0	0	1	0	0	0	7991	1319	46	4	806	4	KAZALD1	10	102824381	Missense_Mutation	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10		102824381	32710366	25	5991											
PPRC1	23082	hgsc.bcm.edu	37	10	103900008	103900008	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr10:103900008A>T	ENST00000278070.2	+	5	1782	c.1743A>T	c.(1741-1743)caA>caT	p.Q581H	PPRC1_ENST00000413464.2_Missense_Mutation_p.Q581H|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ACTCTGCCCAAGCCAGCCCCA	0.542																																																0													133	114	120					10																	103900008		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1743A>T	chr10.hg19:g.103900008A>T	ENSP00000278070:p.Gln581His		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	hg19	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.034985	0.35893	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.55413	0.52;0.52	4.77	-4.45	0.03546	.	2.468930	0.01573	N	0.020686	T	0.32406	0.0828	N	0.19112	0.55	0.09310	N	1	P;B;P	0.35600	0.511;0.412;0.511	B;B;B	0.35688	0.145;0.208;0.094	T	0.12837	-1.0532	10	0.54805	T	0.06	.	0.1789	0.00121	0.2863:0.2485:0.2237:0.2416	.	581;461;581	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	H	581	ENSP00000278070:Q581H;ENSP00000399743:Q581H	ENSP00000278070:Q581H	Q	+	3	2	PPRC1	103889998	0.102000	0.21896	0.000000	0.03702	0.010000	0.07245	0.172000	0.16704	-0.920000	0.03799	-1.357000	0.01221	CAA		0.542	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		T	103900008	A	T	103900008	3	4	90	1	0	0	0	0	1	0	0	0	12415	69	3	5	1761	5	PPRC1	10	103900008	Missense_Mutation	SNP	A	TCGA-A4-A7UZ-01A-12D-A34Z-10	1075627	103900008	31634739	26	5992											
PRDX5	25824	hgsc.bcm.edu	37	11	64085710	64085710	+	Missense_Mutation	SNP	C	C	T	rs368539290		TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr11:64085710C>T	ENST00000265462.4	+	1	151	c.23C>T	c.(22-24)gCc>gTc	p.A8V	TRMT112_ENST00000535750.1_5'Flank|PRDX5_ENST00000352435.4_Missense_Mutation_p.A8V|PRDX5_ENST00000347941.4_Missense_Mutation_p.A8V|TRMT112_ENST00000535126.1_5'Flank|TRMT112_ENST00000539854.1_5'Flank|TRMT112_ENST00000544844.1_5'Flank|TRMT112_ENST00000308774.2_5'Flank	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	8					cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	GGCGTGTGCGCCCTGAGACGC	0.697																																																0								C	VAL/ALA,VAL/ALA,VAL/ALA	0,4400		0,0,2200	34	36	35		23,23,23	-2.2	0	11		35	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense,missense	PRDX5	NM_012094.4,NM_181651.2,NM_181652.2	64,64,64	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	8/215,8/171,8/126	64085710	1,12991	2200	4296	6496	SO:0001583	missense	25824			AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"antioxidant enzyme B166", "thioredoxin peroxidase PMP20", "peroxisomal antioxidant enzyme", "TPx type VI", "liver tissue 2D-page spot 71B", "Alu co-repressor 1"	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.23C>T	chr11.hg19:g.64085710C>T	ENSP00000265462:p.Ala8Val		A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Missense_Mutation	SNP	ENST00000265462.4	hg19	CCDS8069.1	.	.	.	.	.	.	.	.	.	.	C	1.653	-0.513546	0.04200	0.0	1.16E-4	ENSG00000126432	ENST00000265462;ENST00000352435;ENST00000347941	T;T;T	0.42900	0.96;0.97;1.04	3.31	-2.16	0.07080	.	.	.	.	.	T	0.11452	0.0279	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29912	-0.9996	9	0.02654	T	1	-0.1379	3.904	0.09174	0.0:0.3617:0.2031:0.4352	.	8;8;8	A6NC19;A6NG06;P30044	.;.;PRDX5_HUMAN	V	8	ENSP00000265462:A8V;ENSP00000335334:A8V;ENSP00000335363:A8V	ENSP00000265462:A8V	A	+	2	0	PRDX5	63842286	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.504000	0.06375	-0.389000	0.07786	-0.518000	0.04402	GCC		0.697	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401148.1	NM_181651		T	64085710	C	T	64085710	3	4	90	1	0	0	0	0	1	0	0	0	12473	739	26	2	25	2	PRDX5	11	64085710	Missense_Mutation	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10		64085710	70920806	27	5993											
SYVN1	84447	hgsc.bcm.edu	37	11	64897359	64897359	+	Silent	SNP	C	C	T			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr11:64897359C>T	ENST00000377190.3	-	14	1531	c.1437G>A	c.(1435-1437)gcG>gcA	p.A479A	SYVN1_ENST00000526060.1_Silent_p.A478A|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Silent_p.A478A|SYVN1_ENST00000307289.6_Silent_p.A427A	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	479					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CAGCAAAGCCCGCAGGGGGCA	0.652																																																0													26	32	30					11																	64897359		2201	4297	6498	SO:0001819	synonymous_variant	84447			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1437G>A	chr11.hg19:g.64897359C>T			Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	hg19	CCDS31605.1																																																																																				0.652	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		T	64897359	C	T	64897359	2	4	90	1	0	0	0	0	0	0	0	1	15492	639	23	1		1	SYVN1	11	64897359	Silent	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10	811649	64897359	70109157	28	5994											
HEPHL1	341208	hgsc.bcm.edu	37	11	93796840	93796840	+	Missense_Mutation	SNP	G	G	T	rs557063968		TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr11:93796840G>T	ENST00000315765.9	+	3	590	c.582G>T	c.(580-582)aaG>aaT	p.K194N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	194	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACGCCCCAAAGGACATCTGCT	0.522																																																0													108	106	107					11																	93796840		1965	4153	6118	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.582G>T	chr11.hg19:g.93796840G>T	ENSP00000313699:p.Lys194Asn		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	hg19	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397872	0.62177	.	.	ENSG00000181333	ENST00000315765	D	0.99483	-5.99	5.33	3.47	0.39725	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.146963	0.64402	D	0.000010	D	0.98909	0.9630	L	0.49513	1.565	0.44762	D	0.99776	D	0.67145	0.996	D	0.70016	0.967	D	0.97634	1.0144	10	0.30854	T	0.27	.	6.7985	0.23738	0.3943:0.0:0.6057:0.0	.	194	Q6MZM0	HPHL1_HUMAN	N	194	ENSP00000313699:K194N	ENSP00000313699:K194N	K	+	3	2	HEPHL1	93436488	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.877000	0.39598	0.642000	0.30620	0.655000	0.94253	AAG		0.522	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		T	93796840	G	T	93796840	3	4	90	1	0	0	0	0	1	0	0	0	7057	991	35	4	592	4	HEPHL1	11	93796840	Missense_Mutation	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10	28899481	93796840	41209676	29	5995											
IL18	3606	hgsc.bcm.edu	37	11	112019383	112019384	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr11:112019383_112019384delAG	ENST00000280357.7	-	5	521_522	c.302_303delCT	c.(301-303)tctfs	p.S101fs	IL18_ENST00000524595.1_Frame_Shift_Del_p.S97fs|SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Frame_Shift_Del_p.S101fs|IL18_ENST00000533858.1_5'UTR	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18	101					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cellular response to organic cyclic compound (GO:0071407)|chemokine biosynthetic process (GO:0042033)|granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0042253)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma biosynthetic process (GO:0042095)|interleukin-13 biosynthetic process (GO:0042231)|interleukin-2 biosynthetic process (GO:0042094)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|natural killer cell activation (GO:0030101)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of tissue remodeling (GO:0034105)|regulation of cell adhesion (GO:0030155)|sleep (GO:0030431)|T-helper 1 type immune response (GO:0042088)|type 2 immune response (GO:0042092)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		CACACTTCACAGAGATAGTTAC	0.317																																																0																																										SO:0001589	frameshift_variant	3606			U90434	CCDS44731.1, CCDS58180.1	11q22.2-q22.3	2014-04-04	2014-04-04		ENSG00000150782	ENSG00000150782		"Interleukins and interleukin receptors"	5986	protein-coding gene	gene with protein product	"interferon-gamma-inducing factor"	600953	"interleukin 18 (interferon-gamma-inducing factor)"			7477296, 9693051	Standard	NM_001562		Approved	IGIF, IL1F4, IL-1g, IL-18	uc001pnb.2	Q14116	OTTHUMG00000167006	ENST00000280357.7:c.302_303delCT	chr11.hg19:g.112019385_112019386delAG	ENSP00000280357:p.Ser101fs		O75599|Q6FGY3|Q6WWJ7	Frame_Shift_Del	DEL	ENST00000280357.7	hg19	CCDS44731.1																																																																																				0.317	IL18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392409.1	NM_001562		-	112019384	AG	-	112019383	7	5	90	1	0	1	0	1	0	0	0	0	7647	175	7	0	286	0	IL18	11	112019383	Frame_Shift_Del	DEL	AG	TCGA-A4-A7UZ-01A-12D-A34Z-10	18222543	112019383	22987133	30	5996											
LIMA1	51474	hgsc.bcm.edu	37	12	50571415	50571415	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr12:50571415delA	ENST00000341247.4	-	11	1861	c.1712delT	c.(1711-1713)gtcfs	p.V571fs	LIMA1_ENST00000552491.1_Frame_Shift_Del_p.V268fs|LIMA1_ENST00000552909.1_Frame_Shift_Del_p.V410fs|LIMA1_ENST00000552783.1_Frame_Shift_Del_p.V412fs|LIMA1_ENST00000394943.3_Frame_Shift_Del_p.V572fs|LIMA1_ENST00000552823.1_Frame_Shift_Del_p.V411fs|LIMA1_ENST00000547825.1_Frame_Shift_Del_p.V269fs	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	571					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATCTAGATCGACATCCTCAGG	0.478																																																0													123	123	123					12																	50571415		2203	4300	6503	SO:0001589	frameshift_variant	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1712delT	chr12.hg19:g.50571415delA	ENSP00000340184:p.Val571fs		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Frame_Shift_Del	DEL	ENST00000341247.4	hg19	CCDS8802.1																																																																																				0.478	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		-	50571415	A	-	50571415	7	5	90	1	0	1	0	1	0	0	0	0	8798	275	10	0	571	0	LIMA1	12	50571415	Frame_Shift_Del	DEL	A	TCGA-A4-A7UZ-01A-12D-A34Z-10		50571415	83280480	31	5997											
LIMA1	51474	hgsc.bcm.edu	37	12	50594621	50594621	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr12:50594621T>C	ENST00000341247.4	-	7	1060	c.911A>G	c.(910-912)gAg>gGg	p.E304G	LIMA1_ENST00000552491.1_Missense_Mutation_p.E2G|LIMA1_ENST00000552909.1_Missense_Mutation_p.E144G|LIMA1_ENST00000552783.1_Missense_Mutation_p.E144G|LIMA1_ENST00000394943.3_Missense_Mutation_p.E304G|LIMA1_ENST00000552823.1_Missense_Mutation_p.E144G|LIMA1_ENST00000547825.1_Missense_Mutation_p.E2G|LIMA1_ENST00000552008.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	304					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CTCCTTTTGCTCCATTTTATG	0.408																																																0													251	249	249					12																	50594621		2203	4300	6503	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.911A>G	chr12.hg19:g.50594621T>C	ENSP00000340184:p.Glu304Gly		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	hg19	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020309	0.35606	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;D;D;T;D;D	0.84944	-1.32;-1.32;-1.51;-1.92;-1.19;-1.51;-1.51	5.44	5.44	0.79542	.	0.394381	0.29119	N	0.013087	D	0.82724	0.5099	M	0.67953	2.075	0.43868	D	0.996471	B;B;B	0.23990	0.095;0.06;0.034	B;B;B	0.18871	0.023;0.018;0.023	T	0.78966	-0.1995	10	0.32370	T	0.25	.	13.1177	0.59309	0.0:0.0:0.0:1.0	.	313;304;144	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	G	2;2;144;304;304;144;144;223	ENSP00000448463:E2G;ENSP00000448706:E2G;ENSP00000450266:E144G;ENSP00000378400:E304G;ENSP00000340184:E304G;ENSP00000448779:E144G;ENSP00000450087:E144G	ENSP00000340184:E304G	E	-	2	0	LIMA1	48880888	0.997000	0.39634	0.995000	0.50966	0.281000	0.26958	2.852000	0.48310	2.284000	0.76573	0.528000	0.53228	GAG		0.408	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		C	50594621	T	C	50594621	3	2	90	1	0	0	0	0	1	0	0	0	8798	1551	54	3	1391	3	LIMA1	12	50594621	Missense_Mutation	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10	23206	50594621	83257274	32	5998											
KRT3	3850	hgsc.bcm.edu	37	12	53183951	53183951	+	Missense_Mutation	SNP	C	C	T	rs570613061|rs60125653	byFrequency	TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr12:53183951C>T	ENST00000417996.2	-	9	1836	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	KRT3_ENST00000309505.3_Missense_Mutation_p.G589S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	588	Gly-rich.|Tail.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCAAAgccgctgccaccg	0.697																																																0													14	31	25					12																	53183951		1574	3123	4697	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1762G>A	chr12.hg19:g.53183951C>T	ENSP00000413479:p.Gly588Ser		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	hg19	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307617	0.40795	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.91351	-2.83;-2.83	3.4	-1.34	0.09143	.	0.507655	0.14827	N	0.296110	T	0.80149	0.4570	N	0.22421	0.69	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.65302	-0.6201	10	0.34782	T	0.22	.	7.4497	0.27231	0.0:0.4872:0.0:0.5128	.	588	P12035	K2C3_HUMAN	S	588;589	ENSP00000413479:G588S;ENSP00000312206:G589S	ENSP00000312206:G589S	G	-	1	0	KRT3	51470218	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.682000	0.01935	-0.284000	0.09102	-0.258000	0.10820	GGC		0.697	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		T	53183951	C	T	53183951	3	4	90	1	0	0	0	0	1	0	0	0	8468	652	23	1	128	1	KRT3	12	53183951	Missense_Mutation	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10	2589330	53183951	80667944	33	5999											
ANO4	121601	hgsc.bcm.edu	37	12	101514351	101514351	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr12:101514351T>G	ENST00000392977.3	+	26	2834	c.2624T>G	c.(2623-2625)cTg>cGg	p.L875R	ANO4_ENST00000392979.3_Missense_Mutation_p.L840R|ANO4_ENST00000299222.9_Missense_Mutation_p.L395R|ANO4_ENST00000550015.1_Missense_Mutation_p.L395R			Q32M45	ANO4_HUMAN	anoctamin 4	875					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGCTACACACTGCAGTTTTGG	0.408										HNSCC(74;0.22)																																						0													160	138	145					12																	101514351		2203	4300	6503	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2624T>G	chr12.hg19:g.101514351T>G	ENSP00000376703:p.Leu875Arg		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	hg19		.	.	.	.	.	.	.	.	.	.	T	24.2	4.506997	0.85282	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69685	-0.41;-0.26;-0.42;-0.26	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000018	T	0.77089	0.4079	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.72207	-0.4360	10	0.16420	T	0.52	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	395;875;840	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	R	840;395;875;395	ENSP00000376705:L840R;ENSP00000299222:L395R;ENSP00000376703:L875R;ENSP00000450192:L395R	ENSP00000299222:L395R	L	+	2	0	ANO4	100038482	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.251000	0.74343	0.528000	0.53228	CTG		0.408	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		G	101514351	T	G	101514351	3	3	90	1	0	0	0	0	1	0	0	0	699	1580	55	5	2613	5	ANO4	12	101514351	Missense_Mutation	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10	48330400	101514351	32337544	34	6000											
ATXN2	6311	hgsc.bcm.edu	37	12	111951273	111951273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr12:111951273delG	ENST00000377617.3	-	11	2087	c.1926delC	c.(1924-1926)tccfs	p.S642fs	ATXN2_ENST00000550104.1_Frame_Shift_Del_p.S642fs|ATXN2_ENST00000608853.1_Frame_Shift_Del_p.S482fs|ATXN2_ENST00000389153.4_Frame_Shift_Del_p.S377fs|ATXN2_ENST00000542287.2_Frame_Shift_Del_p.S377fs|ATXN2_ENST00000535949.1_Frame_Shift_Del_p.S353fs	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	642	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CACTGGATATGGAACCCCTCC	0.532																																																0													94	80	84					12																	111951273		2203	4300	6503	SO:0001589	frameshift_variant	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1926delC	chr12.hg19:g.111951273delG	ENSP00000366843:p.Ser642fs		A6NLD4|Q6ZQZ7|Q99493	Frame_Shift_Del	DEL	ENST00000377617.3	hg19	CCDS31902.1																																																																																				0.532	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		-	111951273	G	-	111951273	7	5	90	1	0	1	0	1	0	0	0	0	1211	1335	47	0	2075	0	ATXN2	12	111951273	Frame_Shift_Del	DEL	G	TCGA-A4-A7UZ-01A-12D-A34Z-10	10436922	111951273	21900622	35	6001											
SUCLA2	8803	hgsc.bcm.edu	37	13	48528276	48528276	+	Splice_Site	DEL	T	T	-			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr13:48528276delT	ENST00000378654.3	-	8	1162	c.1106delA	c.(1105-1107)aag>ag	p.K369fs	SUCLA2_ENST00000534875.1_Splice_Site_p.K311fs|SUCLA2_ENST00000544100.1_Splice_Site_p.K235fs|SUCLA2_ENST00000543413.1_Splice_Site_p.K311fs	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	369					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TGCCCTTACCTTTTTATCTGA	0.303																																																0													36	36	36					13																	48528276		2203	4300	6503	SO:0001630	splice_region_variant	8803			AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.1107+1A>-	chr13.hg19:g.48528276delT			B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Frame_Shift_Del	DEL	ENST00000378654.3	hg19	CCDS9406.1																																																																																				0.303	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1		Frame_Shift_Del	-	48528276	T	-	48528276	8	5	90	1	0	1	0	1	0	0	1	0	15368	1623	56	0	301	0	SUCLA2	13	48528276	Splice_Site	DEL	T	TCGA-A4-A7UZ-01A-12D-A34Z-10		48528276	66641602	36	6002											
PCNX	22990	hgsc.bcm.edu	37	14	71572155	71572155	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr14:71572155T>C	ENST00000304743.2	+	33	6745	c.6299T>C	c.(6298-6300)cTa>cCa	p.L2100P	PCNX_ENST00000439984.3_Missense_Mutation_p.L1989P|PCNX_ENST00000238570.5_Missense_Mutation_p.L2028P|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2100						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCTCCAACACTAGGTAATGTG	0.448																																																0													91	80	84					14																	71572155		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6299T>C	chr14.hg19:g.71572155T>C	ENSP00000304192:p.Leu2100Pro		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	hg19	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.11|13.11	2.138849|2.138849	0.37728|0.37728	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.10860|.	3.25;3.28;2.83|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.505695|.	0.18696|.	N|.	0.133734|.	T|.	0.64114|.	0.2569|.	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.76494|.	0.999;0.998;0.998|.	D;D;D|.	0.87578|.	0.998;0.995;0.995|.	T|.	0.62572|.	-0.6826|.	10|.	0.22706|.	T|.	0.39|.	.|.	14.1629|14.1629	0.65457|0.65457	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2028;1989;2100|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	P|Q	2100;2028;1989|1087	ENSP00000304192:L2100P;ENSP00000238570:L2028P;ENSP00000396617:L1989P|.	ENSP00000238570:L2028P|.	L|X	+|+	2|1	0|0	PCNX|PCNX	70641908|70641908	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.193000|0.193000	0.23685|0.23685	3.097000|3.097000	0.50251|0.50251	1.988000|1.988000	0.58038|0.58038	0.533000|0.533000	0.62120|0.62120	CTA|TAG		0.448	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		C	71572155	T	C	71572155	3	2	90	1	0	0	0	0	1	0	0	0	11593	1522	53	3	6429	3	PCNX	14	71572155	Missense_Mutation	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10		71572155	35777385	37	6003											
C15orf44	81556	hgsc.bcm.edu	37	15	65892192	65892192	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr15:65892192G>C	ENST00000395644.4	-	4	741	c.406C>G	c.(406-408)Cga>Gga	p.R136G	VWA9_ENST00000567744.1_Missense_Mutation_p.R172G|VWA9_ENST00000569491.1_Missense_Mutation_p.R87G|VWA9_ENST00000431261.2_Missense_Mutation_p.R57G|VWA9_ENST00000442903.3_Missense_Mutation_p.R100G|VWA9_ENST00000313182.2_Missense_Mutation_p.R136G|VWA9_ENST00000420799.2_Missense_Mutation_p.R79G			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	136	VWFA.																CTCTCACTTCGTTGATTTTGA	0.448																																																0													163	121	136					15																	65892192		2201	4299	6500	SO:0001583	missense	81556			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.406C>G	chr15.hg19:g.65892192G>C	ENSP00000379006:p.Arg136Gly		B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	hg19		.	.	.	.	.	.	.	.	.	.	G	14.98	2.696264	0.48202	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	T;T;T	0.67345	-0.26;-0.26;-0.26	5.79	2.77	0.32553	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	L	0.59436	1.845	0.58432	D	0.999996	P;P;P;D;P	0.53619	0.884;0.884;0.901;0.961;0.924	B;B;B;P;B	0.48815	0.347;0.361;0.233;0.591;0.436	T	0.68187	-0.5475	10	0.44086	T	0.13	-12.6037	14.8532	0.70313	0.0:0.0:0.5019:0.4981	.	79;87;100;172;136	B4DDI6;B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;.;CO044_HUMAN	G	136;136;57;79;100	ENSP00000379006:R136G;ENSP00000326379:R136G;ENSP00000396314:R100G	ENSP00000326379:R136G	R	-	1	2	C15orf44	63679245	0.991000	0.36638	0.312000	0.25196	0.975000	0.68041	2.072000	0.41510	0.291000	0.22468	-0.127000	0.14921	CGA		0.448	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		C	65892192	G	C	65892192	3	2	90	1	0	0	0	0	1	0	0	0	1800	1153	40	4	1186	4	C15orf44	15	65892192	Missense_Mutation	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10		65892192	36639200	38	6004											
RASGRF1	5923	hgsc.bcm.edu	37	15	79265658	79265658	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr15:79265658G>C	ENST00000419573.3	-	26	3921	c.3647C>G	c.(3646-3648)tCc>tGc	p.S1216C	RASGRF1_ENST00000394745.3_Missense_Mutation_p.S432C|RASGRF1_ENST00000558480.2_Missense_Mutation_p.S1200C	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1216	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCATCTTGGAGAAGTTGAC	0.632																																																0													164	129	141					15																	79265658		2196	4293	6489	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3647C>G	chr15.hg19:g.79265658G>C	ENSP00000405963:p.Ser1216Cys		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	hg19	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193004	0.78902	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.32753	1.44;1.44	4.08	4.08	0.47627	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	M	0.74467	2.265	0.80722	D	1	D;B	0.69078	0.997;0.445	D;B	0.70016	0.967;0.401	T	0.59392	-0.7463	10	0.66056	D	0.02	.	14.1711	0.65510	0.0:0.0:1.0:0.0	.	1218;1200	Q13972;F8VPA5	RGRF1_HUMAN;.	C	1216;1200;432	ENSP00000405963:S1216C;ENSP00000378228:S432C	ENSP00000378224:S1200C	S	-	2	0	RASGRF1	77052713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.359000	0.97115	2.250000	0.74265	0.591000	0.81541	TCC		0.632	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		C	79265658	G	C	79265658	3	2	90	1	0	0	0	0	1	0	0	0	13078	1174	41	4	186	4	RASGRF1	15	79265658	Missense_Mutation	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10	13373466	79265658	23265734	39	6005											
TELO2	9894	hgsc.bcm.edu	37	16	1550652	1550653	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr16:1550652_1550653GG>AT	ENST00000262319.6	+	9	1512_1513	c.1233_1234GG>AT	c.(1231-1236)gaGGtc>gaATtc	p.V412F		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	412					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TCGTGGCAGAGGTCGTTAGTGC	0.698																																																0																																										SO:0001583	missense	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	Exception_encountered	chr16.hg19:g.1550652_1550653delinsAT	ENSP00000262319:p.Val412Phe		D3DU73|O75168|Q7LDV4|Q9BR21	Silent|Missense_Mutation	SNP	ENST00000262319.6	hg19	CCDS32363.1																																																																																				0.698	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		AT	1550653	GG	AT	1550652	3	1	90	1	0	0	0	0	1	0	0	0	15762	991	35	2	1263	2	TELO2	16	1550652	Missense_Mutation	DNP	GG	TCGA-A4-A7UZ-01A-12D-A34Z-10		1550652	88804101	40	6006											
A2BP1	54715	hgsc.bcm.edu	37	16	7703911	7703911	+	Silent	SNP	G	G	A			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr16:7703911G>A	ENST00000550418.1	+	12	1840	c.852G>A	c.(850-852)agG>agA	p.R284R	RBFOX1_ENST00000355637.4_Silent_p.R304R|RBFOX1_ENST00000311745.5_Silent_p.R304R|RBFOX1_ENST00000436368.2_Silent_p.R304R|RBFOX1_ENST00000552089.1_Silent_p.R301R|RBFOX1_ENST00000547372.1_Silent_p.R327R|RBFOX1_ENST00000553186.1_Silent_p.R257R|RBFOX1_ENST00000547338.1_Silent_p.R284R|RBFOX1_ENST00000422070.4_Silent_p.R327R|RBFOX1_ENST00000535565.2_Silent_p.R241R|RBFOX1_ENST00000340209.4_Silent_p.R289R	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	284					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ACACCTTCAgggccgcggcgc	0.756																																					Ovarian(157;934 2567 15163 39509)											0													9	11	10					16																	7703911		1833	3814	5647	SO:0001819	synonymous_variant	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.852G>A	chr16.hg19:g.7703911G>A			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	hg19	CCDS55983.1																																																																																				0.756	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		A	7703911	G	A	7703911	2	1	90	1	0	0	0	0	0	0	0	1	3	1223	43	2		2	A2BP1	16	7703911	Silent	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10	6153259	7703911	82650842	41	6007											
BFAR	51283	hgsc.bcm.edu	37	16	14758841	14758841	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr16:14758841C>T	ENST00000261658.2	+	7	1350	c.1073C>T	c.(1072-1074)aCa>aTa	p.T358I	BFAR_ENST00000426842.2_Missense_Mutation_p.T230I|BFAR_ENST00000563971.1_Missense_Mutation_p.T233I	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	358					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CATTACTGGACATCACGGTTT	0.438																																																0													248	206	220					16																	14758841		2197	4300	6497	SO:0001583	missense	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1073C>T	chr16.hg19:g.14758841C>T	ENSP00000261658:p.Thr358Ile		A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	hg19	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556706	0.86231	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.54279	2.92;0.58	5.81	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.59404	0.2191	L	0.27053	0.805	0.58432	D	0.999999	P;D;D	0.89917	0.908;1.0;1.0	B;D;D	0.69307	0.325;0.963;0.963	T	0.64415	-0.6413	10	0.87932	D	0	.	14.1846	0.65598	0.0:0.9282:0.0:0.0718	.	230;358;358	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	I	358;230	ENSP00000261658:T358I;ENSP00000400634:T230I	ENSP00000261658:T358I	T	+	2	0	BFAR	14666342	1.000000	0.71417	0.934000	0.37439	0.996000	0.88848	7.555000	0.82223	1.455000	0.47813	0.655000	0.94253	ACA		0.438	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		T	14758841	C	T	14758841	3	4	90	1	0	0	0	0	1	0	0	0	1414	478	17	2	1095	2	BFAR	16	14758841	Missense_Mutation	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10	7054930	14758841	75595912	42	6008											
ABCC1	4363	hgsc.bcm.edu	37	16	16228223	16228223	+	Missense_Mutation	SNP	G	G	A	rs370672850		TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr16:16228223G>A	ENST00000399410.3	+	28	4158	c.3983G>A	c.(3982-3984)cGg>cAg	p.R1328Q	ABCC1_ENST00000351154.5_Missense_Mutation_p.R1269Q|ABCC1_ENST00000349029.5_Missense_Mutation_p.R1213Q|ABCC1_ENST00000346370.5_Missense_Mutation_p.R1272Q|ABCC1_ENST00000399408.2_Missense_Mutation_p.R1338Q|ABCC1_ENST00000345148.5_Missense_Mutation_p.R1328Q	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1328	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ATCGTGGGGCGGACGGGAGCT	0.607																																																0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4205		0,1,2102	81	89	86		3983,3806,3815,3638,3983	5.8	1	16		86	0,8444		0,0,4222	no	missense,missense,missense,missense,missense	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	43,43,43,43,43	0,1,6324	AA,AG,GG		0.0,0.0238,0.0079	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1328/1532,1269/1473,1272/1476,1213/1417,1328/1467	16228223	1,12649	2103	4222	6325	SO:0001583	missense	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3983G>A	chr16.hg19:g.16228223G>A	ENSP00000382342:p.Arg1328Gln		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	hg19	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630940	0.67015	2.38E-4	0.0	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96661	0.8910	M	0.76328	2.33	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.971;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.97110	0.669;1.0;0.999;0.996;0.997;0.999	D	0.96746	0.9550	10	0.87932	D	0	-28.0643	19.0707	0.93134	0.0:0.0:1.0:0.0	.	1213;1328;1272;1269;1328;1338	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	Q	1328;1338;1272;1269;1328;1213;1012	ENSP00000382342:R1328Q;ENSP00000382340:R1338Q;ENSP00000263019:R1272Q;ENSP00000263017:R1269Q;ENSP00000263014:R1328Q;ENSP00000263016:R1213Q	ENSP00000263014:R1328Q	R	+	2	0	ABCC1	16135724	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	9.831000	0.99420	2.746000	0.94184	0.655000	0.94253	CGG		0.607	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		A	16228223	G	A	16228223	3	1	90	1	0	0	0	0	1	0	0	0	49	1116	39	1	4093	1	ABCC1	16	16228223	Missense_Mutation	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10	1469382	16228223	74126530	43	6009											
GTF3C1	2975	hgsc.bcm.edu	37	16	27561107	27561108	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr16:27561107_27561108insA	ENST00000356183.4	-	1	119_120	c.104_105insT	c.(103-105)ttcfs	p.F35fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.F35fs|KIAA0556_ENST00000261588.4_5'Flank	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	35					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AAGGCAGCGGGAAGGGCGGCAC	0.678																																																0																																										SO:0001589	frameshift_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.105dupT	chr16.hg19:g.27561109_27561109dupA	ENSP00000348510:p.Phe35fs		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Ins	INS	ENST00000356183.4	hg19	CCDS32414.1																																																																																				0.678	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		A	27561108	-	A	27561107	7	5	90	1	0	1	1	0	0	0	0	0	6874	1165	41	0	6372	0	GTF3C1	16	27561107	Frame_Shift_Ins	INS	-	TCGA-A4-A7UZ-01A-12D-A34Z-10	11332884	27561107	62793646	44	6010											
ITFG1	81533	hgsc.bcm.edu	37	16	47195736	47195736	+	Missense_Mutation	SNP	C	C	T	rs141409020		TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr16:47195736C>T	ENST00000320640.6	-	16	1814	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	ITFG1_ENST00000544001.2_Missense_Mutation_p.R416Q|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	529						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CTCTTGTTTTCGTATAGACTG	0.323																																																0								C	GLN/ARG	0,4404		0,0,2202	180	166	171		1586	5.4	1	16	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITFG1	NM_030790.3	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	529/613	47195736	1,13003	2202	4300	6502	SO:0001583	missense	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1586G>A	chr16.hg19:g.47195736C>T	ENSP00000319918:p.Arg529Gln		Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	hg19	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197986	0.94997	0.0	1.16E-4	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.63096	-0.02;-0.02	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	L	0.41824	1.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.64892	-0.6300	10	0.16896	T	0.51	-4.0712	19.1974	0.93695	0.0:1.0:0.0:0.0	.	416;529	F5GXC5;Q8TB96	.;TIP_HUMAN	Q	529;189;274;416	ENSP00000319918:R529Q;ENSP00000441062:R416Q	ENSP00000319918:R529Q	R	-	2	0	ITFG1	45753237	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	7.270000	0.78493	2.538000	0.85594	0.467000	0.42956	CGA		0.323	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		T	47195736	C	T	47195736	3	4	90	1	0	0	0	0	1	0	0	0	7871	884	31	1	264	1	ITFG1	16	47195736	Missense_Mutation	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10	19634629	47195736	43159017	45	6011											
RBL2	5934	hgsc.bcm.edu	37	16	53504377	53504377	+	Silent	SNP	C	C	T			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr16:53504377C>T	ENST00000262133.6	+	16	2465	c.2328C>T	c.(2326-2328)tcC>tcT	p.S776S	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	776	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGACAGGCTCCATCCAGCCCC	0.512																																																0													53	52	52					16																	53504377		2198	4300	6498	SO:0001819	synonymous_variant	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2328C>T	chr16.hg19:g.53504377C>T			B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	hg19	CCDS10748.1																																																																																				0.512	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		T	53504377	C	T	53504377	2	4	90	1	0	0	0	0	0	0	0	1	13116	581	21	2		2	RBL2	16	53504377	Silent	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10	6308641	53504377	36850376	46	6012											
NLRP1	22861	hgsc.bcm.edu	37	17	5424855	5424865	+	Frame_Shift_Del	DEL	AGCAGTCACTT	AGCAGTCACTT	-	rs556315689|rs200659907		TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	AGCAGTCACTT	AGCAGTCACTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr17:5424855_5424865delAGCAGTCACTT	ENST00000572272.1	-	13	3761_3771	c.3762_3772delAAGTGACTGCT	c.(3760-3774)ccaagtgactgctccfs	p.SDCS1255fs	NLRP1_ENST00000354411.3_Frame_Shift_Del_p.SDCS1225fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.SDCS1225fs|NLRP1_ENST00000345221.3_Frame_Shift_Del_p.SDCS1255fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.SDCS1255fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.SDCS1259fs			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1255					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTCCGAATGGAGCAGTCACTTGGGATCAGGT	0.545																																																0																																										SO:0001589	frameshift_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3762_3772delAAGTGACTGCT	chr17.hg19:g.5424855_5424865delAGCAGTCACTT	ENSP00000460475:p.Ser1255fs		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Frame_Shift_Del	DEL	ENST00000572272.1	hg19	CCDS42246.1																																																																																				0.545	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		-	5424865	AGCAGTCACTT	-	5424855	7	5	90	1	0	1	0	1	0	0	0	0	10473	304	11	0	732	0	NLRP1	17	5424855	Frame_Shift_Del	DEL	AGCAGTCACTT	TCGA-A4-A7UZ-01A-12D-A34Z-10		5424855	75770355	47	6013											
ZNF287	57336	hgsc.bcm.edu	37	17	16455883	16455885	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr17:16455883_16455885delGAA	ENST00000395824.1	-	6	2188_2190	c.1571_1573delTTC	c.(1570-1575)cttcag>cag	p.L524del	ZNF287_ENST00000395825.3_In_Frame_Del_p.L524del			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	517					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTTGATGCTGAAGAAGGTGTGT	0.35																																																0																																										SO:0001651	inframe_deletion	57336			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1571_1573delTTC	chr17.hg19:g.16455886_16455888delGAA	ENSP00000379168:p.Leu524del		Q6IAG1	In_Frame_Del	DEL	ENST00000395824.1	hg19	CCDS11179.2																																																																																				0.35	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			-	16455885	GAA	-	16455883	7	5	90	1	0	1	0	1	0	0	0	0	17830	1299	45	0	716	0	ZNF287	17	16455883	In_Frame_Del	DEL	GAA	TCGA-A4-A7UZ-01A-12D-A34Z-10	11031028	16455883	64739327	48	6014											
ACACA	31	hgsc.bcm.edu	37	17	35620716	35620716	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr17:35620716C>G	ENST00000394406.2	-	11	1280	c.1090G>C	c.(1090-1092)Gcg>Ccg	p.A364P	ACACA_ENST00000335166.5_Missense_Mutation_p.A286P|ACACA_ENST00000353139.5_Missense_Mutation_p.A401P|ACACA_ENST00000360679.3_Missense_Mutation_p.A306P	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	364	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.			A -> V (in Ref. 2; AAP94122). {ECO:0000305}.	acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TATTGGTCCGCTAAGATCTGC	0.443																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											0													205	179	188					17																	35620716		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1090G>C	chr17.hg19:g.35620716C>G	ENSP00000377928:p.Ala364Pro		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	hg19	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981395	0.93044	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43	5.78	5.78	0.91487	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.050076	0.85682	D	0.000000	D	0.99102	0.9691	H	0.98466	4.24	0.80722	D	1	D;D;D	0.89917	0.979;1.0;0.999	D;D;D	0.78314	0.913;0.991;0.985	D	0.99007	1.0813	10	0.87932	D	0	-14.7209	14.8047	0.69945	0.1441:0.8559:0.0:0.0	.	401;364;306	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	P	401;306;364;388;286	ENSP00000344789:A401P;ENSP00000353898:A306P;ENSP00000377928:A364P;ENSP00000335323:A286P	ENSP00000335323:A286P	A	-	1	0	ACACA	32694829	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.930000	0.70104	2.722000	0.93159	0.655000	0.94253	GCG		0.443	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		G	35620716	C	G	35620716	3	3	90	1	0	0	0	0	1	0	0	0	106	797	28	4	6134	4	ACACA	17	35620716	Missense_Mutation	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10	19164833	35620716	45574494	49	6015											
SYNRG	11276	hgsc.bcm.edu	37	17	35946557	35946557	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr17:35946557T>G	ENST00000339208.6	-	4	481	c.341A>C	c.(340-342)gAc>gCc	p.D114A	SYNRG_ENST00000346661.4_Missense_Mutation_p.D114A|SYNRG_ENST00000345615.4_Missense_Mutation_p.D114A|SYNRG_ENST00000591288.1_Missense_Mutation_p.D114A|SYNRG_ENST00000585472.1_Missense_Mutation_p.D113A|SYNRG_ENST00000502449.2_Missense_Mutation_p.D114A|SYNRG_ENST00000394378.2_Missense_Mutation_p.D114A	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	114					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTCTGCATGTCTGGAGTGTA	0.473																																																0													133	118	123					17																	35946557		2203	4300	6503	SO:0001583	missense	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.341A>C	chr17.hg19:g.35946557T>G	ENSP00000343610:p.Asp114Ala		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	hg19	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463539	0.84425	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	4.74	4.74	0.60224	.	0.050722	0.85682	D	0.000000	T	0.48295	0.1492	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.941;0.951;0.951;0.951;0.951;0.997;0.997	T	0.43442	-0.9391	10	0.09084	T	0.74	-4.1366	14.5161	0.67821	0.0:0.0:0.0:1.0	.	114;114;114;114;114;114;114	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	A	114	ENSP00000005279:D114A;ENSP00000343610:D114A;ENSP00000315722:D114A;ENSP00000424893:D114A;ENSP00000377903:D114A	ENSP00000343610:D114A	D	-	2	0	SYNRG	33020670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.604000	0.82830	1.876000	0.54355	0.482000	0.46254	GAC		0.473	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		G	35946557	T	G	35946557	3	3	90	1	0	0	0	0	1	0	0	0	15465	1667	58	5	3752	5	SYNRG	17	35946557	Missense_Mutation	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10	325841	35946557	45248653	50	6016											
DHX8	1659	hgsc.bcm.edu	37	17	41584425	41584426	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr17:41584425_41584426delAC	ENST00000262415.3	+	13	1855_1856	c.1783_1784delAC	c.(1783-1785)acafs	p.T596fs	DHX8_ENST00000540306.1_Frame_Shift_Del_p.T596fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	596	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATCTGGAAAGACAACACAGATC	0.49																																					NSCLC(56;1548 1661 49258 49987)											0																																										SO:0001589	frameshift_variant	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1783_1784delAC	chr17.hg19:g.41584425_41584426delAC	ENSP00000262415:p.Thr596fs			Frame_Shift_Del	DEL	ENST00000262415.3	hg19	CCDS11464.1																																																																																				0.49	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			-	41584426	AC	-	41584425	7	5	90	1	0	1	0	1	0	0	0	0	4517	275	10	0	1833	0	DHX8	17	41584425	Frame_Shift_Del	DEL	AC	TCGA-A4-A7UZ-01A-12D-A34Z-10	5637868	41584425	39610785	51	6017											
CPLX4	339302	hgsc.bcm.edu	37	18	56964141	56964141	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr18:56964141T>C	ENST00000299721.3	-	3	458	c.272A>G	c.(271-273)aAt>aGt	p.N91S	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	91					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTGGATTTGATTCTCATCCAT	0.318																																																0													66	60	62					18																	56964141		2203	4300	6503	SO:0001583	missense	339302			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.272A>G	chr18.hg19:g.56964141T>C	ENSP00000299721:p.Asn91Ser		F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	hg19	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	T	4.797	0.148248	0.09134	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	-1.56	0.08532	.	0.177771	0.64402	N	0.000012	T	0.47173	0.1431	L	0.50333	1.59	0.44780	D	0.997788	B	0.06786	0.001	B	0.11329	0.006	T	0.40534	-0.9558	9	0.07644	T	0.81	-7.2865	11.4238	0.49998	0.0:0.0644:0.5712:0.3644	.	91	Q7Z7G2	CPLX4_HUMAN	S	91	.	ENSP00000299721:N91S	N	-	2	0	CPLX4	55115121	1.000000	0.71417	0.969000	0.41365	0.974000	0.67602	2.143000	0.42187	-0.158000	0.11040	-0.396000	0.06452	AAT		0.318	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		C	56964141	T	C	56964141	3	2	90	1	0	0	0	0	1	0	0	0	3809	1493	52	3	214	3	CPLX4	18	56964141	Missense_Mutation	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10		56964141	21113107	52	6018											
ATP9B	374868	hgsc.bcm.edu	37	18	77013436	77013436	+	Nonsense_Mutation	SNP	T	T	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr18:77013436T>G	ENST00000426216.2	+	12	1180	c.1163T>G	c.(1162-1164)tTa>tGa	p.L388*	RP11-1136J12.1_ENST00000591742.1_RNA|ATP9B_ENST00000307671.7_Nonsense_Mutation_p.L388*	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	388					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTTTTGGCTTTAGTTGCTCTT	0.408																																																0													303	279	287					18																	77013436		2203	4300	6503	SO:0001587	stop_gained	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1163T>G	chr18.hg19:g.77013436T>G	ENSP00000398076:p.Leu388*		O60872|Q08AD8|Q08AD9	Nonsense_Mutation	SNP	ENST00000426216.2	hg19	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	T	37	6.321691	0.97471	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	.	.	.	5.95	5.95	0.96441	.	0.071724	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	.	.	.	X	388	.	ENSP00000304500:L388X	L	+	2	0	ATP9B	75114424	0.426000	0.25506	0.004000	0.12327	0.963000	0.63663	3.606000	0.54095	2.279000	0.76181	0.533000	0.62120	TTA		0.408	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		G	77013436	T	G	77013436	4	3	90	1	0	0	0	0	0	1	0	0	1199	1764	61	5	1209	5	ATP9B	18	77013436	Nonsense_Mutation	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10	20049295	77013436	1063812	53	6019											
CPXM1	56265	hgsc.bcm.edu	37	20	2779177	2779177	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr20:2779177G>T	ENST00000380605.2	-	3	411	c.347C>A	c.(346-348)cCt>cAt	p.P116H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	116	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACCCAAAGGAGGACAGCCTGG	0.602																																																0													39	41	40					20																	2779177		2203	4300	6503	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.347C>A	chr20.hg19:g.2779177G>T	ENSP00000369979:p.Pro116His		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	hg19	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346218	0.82022	.	.	ENSG00000088882	ENST00000380605	D	0.98914	-5.23	4.6	4.6	0.57074	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	D	0.98779	0.9589	M	0.64080	1.96	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.99564	1.0969	10	0.87932	D	0	-18.0862	14.9658	0.71193	0.0:0.0:1.0:0.0	.	116;116	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	H	116	ENSP00000369979:P116H	ENSP00000369979:P116H	P	-	2	0	CPXM1	2727177	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.455000	0.97625	2.398000	0.81561	0.563000	0.77884	CCT		0.602	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		T	2779177	G	T	2779177	3	4	90	1	0	0	0	0	1	0	0	0	3839	1000	35	4	1905	4	CPXM1	20	2779177	Missense_Mutation	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10		2779177	60246343	54	6020											
C20orf151	140893	hgsc.bcm.edu	37	20	60988918	60988918	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr20:60988918C>G	ENST00000252998.1	-	10	1645	c.1489G>C	c.(1489-1491)Ggg>Cgg	p.G497R		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	497	Pro-rich.					extracellular space (GO:0005615)											ACTCTGGTCCCCTTGGTGCCA	0.692																																																0													12	11	11					20																	60988918		2184	4286	6470	SO:0001583	missense	140893			AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1489G>C	chr20.hg19:g.60988918C>G	ENSP00000252998:p.Gly497Arg		B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	hg19	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525223	0.44969	.	.	ENSG00000130701	ENST00000252998	T	0.19532	2.14	3.49	1.32	0.21799	.	1.401760	0.04423	N	0.367918	T	0.24044	0.0582	L	0.43152	1.355	0.09310	N	1	D	0.60160	0.987	P	0.49012	0.598	T	0.16988	-1.0384	10	0.41790	T	0.15	-3.3453	4.3029	0.10933	0.0:0.6278:0.238:0.1342	.	497	Q8NC74	CT151_HUMAN	R	497	ENSP00000252998:G497R	ENSP00000252998:G497R	G	-	1	0	C20orf151	60422313	0.000000	0.05858	0.020000	0.16555	0.119000	0.20118	0.123000	0.15708	0.822000	0.34565	-0.339000	0.08088	GGG		0.692	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		G	60988918	C	G	60988918	3	3	90	1	0	0	0	0	1	0	0	0	2093	623	22	4	525	4	C20orf151	20	60988918	Missense_Mutation	SNP	C	TCGA-A4-A7UZ-01A-12D-A34Z-10	58209741	60988918	2036602	55	6021											
DIDO1	11083	hgsc.bcm.edu	37	20	61513486	61513486	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chr20:61513486T>A	ENST00000266070.4	-	16	4147	c.3822A>T	c.(3820-3822)aaA>aaT	p.K1274N	DIDO1_ENST00000395343.1_Missense_Mutation_p.K1274N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1274	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATGACAGCACTTTTAGCACCG	0.647																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0													73	80	78					20																	61513486		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3822A>T	chr20.hg19:g.61513486T>A	ENSP00000266070:p.Lys1274Asn		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	hg19	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.556495	0.65425	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09445	2.98;2.98	5.3	-3.1	0.05315	.	0.000000	0.45867	D	0.000337	T	0.17280	0.0415	M	0.76838	2.35	0.18873	N	0.999989	P	0.51933	0.949	P	0.46585	0.521	T	0.16630	-1.0396	10	0.62326	D	0.03	-20.2186	14.5469	0.68038	0.0:0.5842:0.0:0.4158	.	1274	Q9BTC0	DIDO1_HUMAN	N	1274	ENSP00000266070:K1274N;ENSP00000378752:K1274N	ENSP00000266070:K1274N	K	-	3	2	DIDO1	60983931	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	-0.248000	0.08854	-0.761000	0.04670	-0.376000	0.06991	AAA		0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		A	61513486	T	A	61513486	3	1	90	1	0	0	0	0	1	0	0	0	4524	1606	56	5	2904	5	DIDO1	20	61513486	Missense_Mutation	SNP	T	TCGA-A4-A7UZ-01A-12D-A34Z-10	524568	61513486	1512034	56	6022											
KLHL34	257240	hgsc.bcm.edu	37	X	21674429	21674429	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chrX:21674429A>G	ENST00000379499.2	-	1	2019	c.1478T>C	c.(1477-1479)cTc>cCc	p.L493P		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	493						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TAAGTCCCGGAGGCTGCTCGC	0.697																																																0													30	18	22					X																	21674429		2201	4298	6499	SO:0001583	missense	257240			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1478T>C	chrX.hg19:g.21674429A>G	ENSP00000368813:p.Leu493Pro			Missense_Mutation	SNP	ENST00000379499.2	hg19	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607556	0.28623	.	.	ENSG00000185915	ENST00000379499	T	0.54675	0.56	5.54	5.54	0.83059	Kelch-type beta propeller (1);	0.486321	0.17614	N	0.167973	T	0.67711	0.2922	M	0.78916	2.43	0.49483	D	0.99979	D	0.61080	0.989	P	0.61070	0.883	T	0.70371	-0.4890	10	0.62326	D	0.03	.	8.8221	0.35032	0.8129:0.1871:0.0:0.0	.	493	Q8N239	KLH34_HUMAN	P	493	ENSP00000368813:L493P	ENSP00000368813:L493P	L	-	2	0	KLHL34	21584350	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	3.067000	0.50010	1.849000	0.53698	0.486000	0.48141	CTC		0.697	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		G	21674429	A	G	21674429	3	3	90	1	0	0	0	0	1	0	0	0	8389	304	11	3	460	3	KLHL34	23	21674429	Missense_Mutation	SNP	A	TCGA-A4-A7UZ-01A-12D-A34Z-10		21674429	133596131	57	6023											
KLHL15	80311	hgsc.bcm.edu	37	X	24024135	24024157	+	Frame_Shift_Del	DEL	AGCAAAACCGGATATTCTGAATG	AGCAAAACCGGATATTCTGAATG	-			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	AGCAAAACCGGATATTCTGAATG	AGCAAAACCGGATATTCTGAATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chrX:24024135_24024157delAGCAAAACCGGATATTCTGAATG	ENST00000328046.8	-	3	909_931	c.654_676delCATTCAGAATATCCGGTTTTGCT	c.(652-678)atcattcagaatatccggttttgcttgfs	p.IQNIRFCL219fs		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	219	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GGGGTCATCAAGCAAAACCGGATATTCTGAATGATGGTATCGG	0.43																																																0																																										SO:0001589	frameshift_variant	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.654_676delCATTCAGAATATCCGGTTTTGCT	chrX.hg19:g.24024135_24024157delAGCAAAACCGGATATTCTGAATG	ENSP00000332791:p.Ile219fs		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Frame_Shift_Del	DEL	ENST00000328046.8	hg19	CCDS35217.1																																																																																				0.43	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		-	24024157	AGCAAAACCGGATATTCTGAATG	-	24024135	7	5	90	1	0	1	0	1	0	0	0	0	8373	69	3	0	1146	0	KLHL15	23	24024135	Frame_Shift_Del	DEL	AGCAAAACCGGATATTCTGAATG	TCGA-A4-A7UZ-01A-12D-A34Z-10	2349706	24024135	131246425	58	6024											
UTP14A	10813	hgsc.bcm.edu	37	X	129058817	129058817	+	Silent	SNP	G	G	A			TCGA-A4-A7UZ-01A-12D-A34Z-10	TCGA-A4-A7UZ-10A-01D-A34Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	991be3fd-4490-49c9-8019-27879e3192bd	fc283c2e-af56-4460-b252-9f1dc8940a6e	g.chrX:129058817G>A	ENST00000394422.3	+	12	1423	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q	UTP14A_ENST00000425117.2_Silent_p.Q413Q|UTP14A_ENST00000371042.3_Silent_p.Q297Q|UTP14A_ENST00000371051.5_Silent_p.Q411Q|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	465					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TACTATCTCAGAAATTGAAGG	0.473																																																0													132	142	139					X																	129058817		2203	4300	6503	SO:0001819	synonymous_variant	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1395G>A	chrX.hg19:g.129058817G>A			A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	hg19	CCDS14615.1																																																																																				0.473	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		A	129058817	G	A	129058817	2	1	90	1	0	0	0	0	0	0	0	1	17100	933	33	2		2	UTP14A	23	129058817	Silent	SNP	G	TCGA-A4-A7UZ-01A-12D-A34Z-10	105034682	129058817	26211743	59	6025											
HDAC1	3065	hgsc.bcm.edu;ucsc.edu	37	1	32797118	32797118	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr1:32797118C>G	ENST00000373548.3	+	10	1107	c.1023C>G	c.(1021-1023)ttC>ttG	p.F341L	HDAC1_ENST00000373541.2_Missense_Mutation_p.F148L|HDAC1_ENST00000490081.1_3'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	341					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	GACCAGATTTCAAGCTCCACA	0.473																																																0													104	94	98					1																	32797118		2203	4300	6503	SO:0001583	missense	3065			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.1023C>G	1.37:g.32797118C>G	ENSP00000362649:p.Phe341Leu		Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	CCDS360.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992503	0.54041	.	.	ENSG00000116478	ENST00000373548;ENST00000373541	T;T	0.77098	-1.07;-1.07	4.17	3.24	0.37175	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	H	0.96080	3.765	0.54753	D	0.999987	B	0.13594	0.008	B	0.12837	0.008	T	0.83103	-0.0127	10	0.87932	D	0	-19.146	10.9081	0.47092	0.0:0.8353:0.0:0.1647	.	341	Q13547	HDAC1_HUMAN	L	341;148	ENSP00000362649:F341L;ENSP00000362642:F148L	ENSP00000362642:F148L	F	+	3	2	HDAC1	32569705	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.230000	0.32612	1.059000	0.40554	0.563000	0.77884	TTC		0.473	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		G	32797118	C	G	32797118	3	3	91	1	0	0	0	0	1	0	0	0	7006	825	29	4	1061	4	HDAC1	1	32797118	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10		32797118	216453503	1	6026											
CYP2J2	1573	hgsc.bcm.edu	37	1	60392210	60392210	+	Splice_Site	SNP	A	A	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr1:60392210A>T	ENST00000371204.3	-	1	252	c.209T>A	c.(208-210)cTg>cAg	p.L70Q		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	70					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CACTCCTACCAGCTGAACCTC	0.627																																																0													55	57	56					1																	60392210		2203	4300	6503	SO:0001630	splice_region_variant	1573			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.210+1T>A	1.37:g.60392210A>T			B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	CCDS613.1	.	.	.	.	.	.	.	.	.	.	A	5.568	0.289559	0.10567	.	.	ENSG00000134716	ENST00000371204	T	0.66815	-0.23	5.31	-5.98	0.02220	.	1.077840	0.06922	N	0.809591	T	0.16428	0.0395	N	0.00037	-2.525	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27739	-1.0065	10	0.32370	T	0.25	.	1.2077	0.01898	0.2425:0.3429:0.1295:0.2851	.	70	P51589	CP2J2_HUMAN	Q	70	ENSP00000360247:L70Q	ENSP00000360247:L70Q	L	-	2	0	CYP2J2	60164798	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-3.166000	0.00575	-1.337000	0.02236	-2.613000	0.00159	CTG		0.627	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775	Missense_Mutation	T	60392210	A	T	60392210	5	4	91	1	0	0	0	0	0	0	1	0	4174	202	7	5	1335	5	CYP2J2	1	60392210	Splice_Site	SNP	A	TCGA-AK-3425-01A-02D-1361-10	27595092	60392210	188858411	2	6027											
TARBP1	6894	hgsc.bcm.edu	37	1	234553902	234553902	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr1:234553902T>C	ENST00000040877.1	-	22	3632	c.3633A>G	c.(3631-3633)atA>atG	p.I1211M		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1211					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TAATCCATTCTATAAAATATT	0.264																																																0													22	26	24					1																	234553902		2181	4262	6443	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3633A>G	1.37:g.234553902T>C	ENSP00000040877:p.Ile1211Met		Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902682	0.33628	.	.	ENSG00000059588	ENST00000040877	T	0.32515	1.45	4.88	1.1	0.20463	Armadillo-type fold (1);	0.162161	0.51477	D	0.000082	T	0.19846	0.0477	L	0.47716	1.5	0.46499	D	0.999077	P	0.49253	0.921	B	0.42882	0.401	T	0.25916	-1.0118	10	0.11182	T	0.66	-13.9908	3.58	0.07949	0.1333:0.0736:0.1393:0.6538	.	1211	Q13395	TARB1_HUMAN	M	1211	ENSP00000040877:I1211M	ENSP00000040877:I1211M	I	-	3	3	TARBP1	232620525	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	1.963000	0.40452	0.016000	0.14998	0.383000	0.25322	ATA		0.264	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		C	234553902	T	C	234553902	3	2	91	1	0	0	0	0	1	0	0	0	15560	1512	53	3	1268	3	TARBP1	1	234553902	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10	174161692	234553902	14696719	3	6028											
ANAPC1	64682	hgsc.bcm.edu;ucsc.edu	37	2	112638368	112638370	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	ATC	ATC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr2:112638368_112638370delATC	ENST00000341068.3	-	2	805_807	c.33_35delGAT	c.(31-36)atgatt>att	p.M11del	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	11					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCTTGCTGCAATCATCGTTGTCC	0.433																																																0																																										SO:0001651	inframe_deletion	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.33_35delGAT	2.37:g.112638371_112638373delATC	ENSP00000339109:p.Met11del		Q2M3H8|Q9BSE6|Q9H8D0	In_Frame_Del	DEL	ENST00000341068.3	37	CCDS2093.1																																																																																				0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		-	112638370	ATC	-	112638368	7	5	91	1	0	1	0	1	0	0	0	0	598	101	4	0	5987	0	ANAPC1	2	112638368	In_Frame_Del	DEL	ATC	TCGA-AK-3425-01A-02D-1361-10		112638368	130561005	4	6029											
BIN1	274	hgsc.bcm.edu	37	2	127808049	127808049	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr2:127808049A>C	ENST00000316724.5	-	18	2033	c.1622T>G	c.(1621-1623)cTc>cGc	p.L541R	BIN1_ENST00000409400.1_Missense_Mutation_p.L387R|BIN1_ENST00000357970.3_Missense_Mutation_p.L498R|BIN1_ENST00000259238.4_Missense_Mutation_p.L445R|BIN1_ENST00000346226.3_Missense_Mutation_p.L466R|BIN1_ENST00000376113.2_Missense_Mutation_p.L372R|BIN1_ENST00000352848.3_Missense_Mutation_p.L402R|BIN1_ENST00000348750.4_Missense_Mutation_p.L357R|BIN1_ENST00000393040.3_Missense_Mutation_p.L430R|BIN1_ENST00000351659.3_Missense_Mutation_p.L454R|BIN1_ENST00000393041.3_Missense_Mutation_p.L423R|BIN1_ENST00000466111.1_5'UTR	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	541	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACCAGCCTTGAGCTGCAGCTC	0.642											OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													131	102	112					2																	127808049		2203	4300	6503	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1622T>G	2.37:g.127808049A>C	ENSP00000316779:p.Leu541Arg	1560	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704621	0.88924	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	4.58	4.58	0.56647	Src homology-3 domain (4);Variant SH3 (1);	0.063541	0.64402	D	0.000006	D	0.84642	0.5517	H	0.96518	3.835	0.58432	D	0.99999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.993;0.999;1.0;0.989;1.0;0.986;0.999;0.989;1.0;1.0;0.999;0.998;1.0	D	0.89218	0.3569	10	0.87932	D	0	-23.7089	13.1099	0.59267	1.0:0.0:0.0:0.0	.	418;333;423;387;430;466;454;402;445;498;372;357;541	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	R	372;498;430;357;445;466;423;454;402;541;387	ENSP00000365281:L372R;ENSP00000350654:L498R;ENSP00000376760:L430R;ENSP00000259237:L357R;ENSP00000259238:L445R;ENSP00000315411:L466R;ENSP00000376761:L423R;ENSP00000315388:L454R;ENSP00000315284:L402R;ENSP00000316779:L541R;ENSP00000386797:L387R	ENSP00000259238:L445R	L	-	2	0	BIN1	127524519	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.475000	0.60210	1.942000	0.56320	0.454000	0.30748	CTC		0.642	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		C	127808049	A	C	127808049	3	2	91	1	0	0	0	0	1	0	0	0	1432	304	11	5	167	5	BIN1	2	127808049	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10	15169681	127808049	115391324	5	6030											
DNAH7	56171	hgsc.bcm.edu	37	2	196753531	196753531	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr2:196753531G>A	ENST00000312428.6	-	32	5321	c.5221C>T	c.(5221-5223)Cct>Tct	p.P1741S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1741	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACAGTGGCAGGGGAAGCAACT	0.323																																																0													67	67	67					2																	196753531		1853	4101	5954	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5221C>T	2.37:g.196753531G>A	ENSP00000311273:p.Pro1741Ser		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506602	0.64410	.	.	ENSG00000118997	ENST00000312428	D	0.98889	-5.21	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97578	1.0109	10	0.87932	D	0	.	19.1053	0.93293	0.0:0.0:1.0:0.0	.	1741	Q8WXX0	DYH7_HUMAN	S	1741	ENSP00000311273:P1741S	ENSP00000311273:P1741S	P	-	1	0	DNAH7	196461776	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	9.683000	0.98657	2.690000	0.91761	0.655000	0.94253	CCT		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		A	196753531	G	A	196753531	3	1	91	1	0	0	0	0	1	0	0	0	4608	1232	43	2	6989	2	DNAH7	2	196753531	Missense_Mutation	SNP	G	TCGA-AK-3425-01A-02D-1361-10	68945482	196753531	46445842	6	6031											
GLB1L	79411	hgsc.bcm.edu	37	2	220102299	220102299	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr2:220102299A>G	ENST00000295759.7	-	16	1937	c.1624T>C	c.(1624-1626)Tcc>Ccc	p.S542P	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.S542P|GLB1L_ENST00000409640.1_Missense_Mutation_p.S452P|GLB1L_ENST00000356283.3_Missense_Mutation_p.S452P			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	542					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATGTTTTGGAGTAGAATGTG	0.468																																																0													80	82	81					2																	220102299		2203	4300	6503	SO:0001583	missense	79411				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1624T>C	2.37:g.220102299A>G	ENSP00000295759:p.Ser542Pro		Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	A	9.019	0.984337	0.18889	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.09	5.09	0.68999	Galactose-binding domain-like (1);	0.447334	0.23904	N	0.043415	D	0.94026	0.8086	L	0.54323	1.7	0.42832	D	0.994029	D;D	0.71674	0.998;0.965	P;P	0.62649	0.905;0.579	D	0.92708	0.6180	10	0.37606	T	0.19	-17.0788	8.4212	0.32700	0.7088:0.0:0.0:0.2912	.	452;542	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	P	542;452;542;452	ENSP00000295759:S542P;ENSP00000386354:S452P;ENSP00000375939:S542P;ENSP00000348628:S452P	ENSP00000295759:S542P	S	-	1	0	GLB1L	219810543	1.000000	0.71417	0.996000	0.52242	0.745000	0.42441	2.209000	0.42806	2.129000	0.65627	0.533000	0.62120	TCC		0.468	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		G	220102299	A	G	220102299	3	3	91	1	0	0	0	0	1	0	0	0	6430	304	11	3	348	3	GLB1L	2	220102299	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10	23348768	220102299	23097074	7	6032											
PBRM1	55193	ucsc.edu	37	3	52676048	52676048	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	C	-	C	C	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr3:52676048delC	ENST00000296302.7	-	10	1010	c.1009delG	c.(1009-1011)gtafs	p.V337fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.V305fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.V337fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.V337fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.V337fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.V337fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.V337fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.V337fs			Q86U86	PB1_HUMAN	polybromo 1	337					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A336fs*25(2)|p.A304fs*25(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTCCTTGTACTGCTCTTTTA	0.353			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Complex - frameshift(3)	kidney(3)											212	201	205					3																	52676048		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1009delG	3.37:g.52676048delC	ENSP00000296302:p.Val337fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52676048	C	-	52676048	7	5	91	1	0	1	0	1	0	0	0	0	11493	565	20	0	3975	0	PBRM1	3	52676048	Frame_Shift_Del	DEL	C	TCGA-AK-3425-01A-02D-1361-10		52676048	145346382	8	6033											
SI	6476	hgsc.bcm.edu;ucsc.edu	37	3	164741459	164741459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr3:164741459G>A	ENST00000264382.3	-	26	3060	c.2998C>T	c.(2998-3000)Caa>Taa	p.Q1000*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1000	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTATTTAGTTGGAGGTCAGCT	0.398										HNSCC(35;0.089)																																						0													139	132	134					3																	164741459		2203	4300	6503	SO:0001587	stop_gained	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2998C>T	3.37:g.164741459G>A	ENSP00000264382:p.Gln1000*		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	37	6.175857	0.97348	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.53	-2.43	0.06522	.	0.854793	0.10559	N	0.660551	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	2.4282	0.04465	0.1298:0.1763:0.3039:0.3901	.	.	.	.	X	1000	.	ENSP00000264382:Q1000X	Q	-	1	0	SI	166224153	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.022000	0.12480	-0.100000	0.12241	-0.176000	0.13171	CAA		0.398	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		A	164741459	G	A	164741459	4	1	91	1	0	0	0	0	0	1	0	0	14303	1357	47	2	2577	2	SI	3	164741459	Nonsense_Mutation	SNP	G	TCGA-AK-3425-01A-02D-1361-10	112065411	164741459	33280971	9	6034											
GYPA	2994	hgsc.bcm.edu	37	4	145038027	145038027	+	Intron	SNP	C	C	T	rs146754148	byFrequency	TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr4:145038027C>T	ENST00000283126.7	-	1	93				GYPA_ENST00000535709.1_Missense_Mutation_p.G87S|GYPA_ENST00000324022.10_Missense_Mutation_p.G80S|GYPA_ENST00000504786.1_Missense_Mutation_p.G81S|GYPA_ENST00000512064.1_Missense_Mutation_p.G100S|GYPA_ENST00000360771.4_Missense_Mutation_p.G113S|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Missense_Mutation_p.G48S|GYPA_ENST00000503627.1_Missense_Mutation_p.G68S			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G113S(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					CGGCGAATACCGTAAGAAATT	0.363													N|||	6	0.00119808	0.0008	0.0	5008	,	,		16389	0.0		0.003	False		,,,				2504	0.002															1	Substitution - Missense(1)	central_nervous_system(1)						T	SER/GLY	1,4405		0,1,2202	120	122	121		337	-9.6	0	4	dbSNP_134	121	6,8594		0,6,4294	yes	missense	GYPA	NM_002099.6	56	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	benign	113/151	145038027	7,12999	2203	4300	6503	SO:0001627	intron_variant	2993				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+23724G>A	4.37:g.145038027C>T			B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	a	7.118	0.577426	0.13686	2.27E-4	6.98E-4	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512064;ENST00000512789;ENST00000504786;ENST00000503627	T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44	4.79	-9.57	0.00562	.	1.318910	0.05208	N	0.506259	T	0.04861	0.0131	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B	0.22851	0.076;0.044;0.033;0.019;0.001	B;B;B;B;B	0.14578	0.007;0.007;0.011;0.011;0.002	T	0.30357	-0.9981	10	0.02654	T	1	-7.0E-4	10.8318	0.46665	0.1479:0.6916:0.0685:0.092	.	80;48;100;81;113	B8Q185;Q13030;E9PD10;E7EQF3;P02724	.;.;.;.;GLPA_HUMAN	S	113;80;87;100;48;81;68	ENSP00000354003:G113S;ENSP00000324483:G80S;ENSP00000445398:G87S;ENSP00000426130:G100S;ENSP00000425193:G48S;ENSP00000425549:G81S;ENSP00000421243:G68S	ENSP00000324483:G80S	G	-	1	0	GYPA	145257477	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.121000	0.03270	-2.698000	0.00400	-1.898000	0.00530	GGT		0.363	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		T	145038027	C	T	145038027	1	4	91	0	1	0	0	0	0	0	0	0	6910	652	23	1		1	GYPA	4	145038027	Intron	SNP	C	TCGA-AK-3425-01A-02D-1361-10		145038027	46116249	10	6035											
KIAA1430	57587	hgsc.bcm.edu;ucsc.edu	37	4	186085307	186085307	+	Silent	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr4:186085307C>A	ENST00000458385.2	-	4	1466	c.1347G>T	c.(1345-1347)gtG>gtT	p.V449V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		449										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CTGTTGGTTTCACGGCCTCAA	0.393																																																0													128	119	122					4																	186085307		1895	4116	6011	SO:0001819	synonymous_variant	57587																														ENST00000458385.2:c.1347G>T	4.37:g.186085307C>A			B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	ENST00000458385.2	37	CCDS47168.1																																																																																				0.393	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			A	186085307	C	A	186085307	2	1	91	1	0	0	0	0	0	0	0	1	8234	813	29	4		4	KIAA1430	4	186085307	Silent	SNP	C	TCGA-AK-3425-01A-02D-1361-10	41047280	186085307	5068969	11	6036											
IL6ST	3572	hgsc.bcm.edu	37	5	55264141	55264141	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr5:55264141T>C	ENST00000381298.2	-	5	766	c.454A>G	c.(454-456)Aca>Gca	p.T152A	IL6ST_ENST00000381294.3_Missense_Mutation_p.T152A|IL6ST_ENST00000536319.1_Missense_Mutation_p.T152A|IL6ST_ENST00000522633.2_Missense_Mutation_p.T152A|IL6ST_ENST00000502326.3_Missense_Mutation_p.T152A|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.T152A|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.T152A|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	152	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TCCAAGTGTGTTTCCCTTCCA	0.338			O		hepatocellular ca																																		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													133	131	132					5																	55264141		2202	4299	6501	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.454A>G	5.37:g.55264141T>C	ENSP00000370698:p.Thr152Ala		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.202335	0.79127	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.76	5.76	0.90799	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.110117	0.64402	D	0.000011	T	0.58481	0.2125	M	0.79693	2.465	0.80722	D	1	P;D;P	0.54601	0.762;0.967;0.859	P;P;P	0.57057	0.478;0.812;0.583	T	0.64179	-0.6468	10	0.72032	D	0.01	.	16.3786	0.83431	0.0:0.0:0.0:1.0	.	152;152;152	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	A	152	ENSP00000370698:T152A;ENSP00000338799:T152A;ENSP00000370694:T152A;ENSP00000370687:T152A;ENSP00000444456:T152A;ENSP00000435399:T152A	ENSP00000338799:T152A	T	-	1	0	IL6ST	55299898	1.000000	0.71417	0.820000	0.32676	0.846000	0.48090	5.091000	0.64505	2.323000	0.78572	0.528000	0.53228	ACA		0.338	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		C	55264141	T	C	55264141	3	2	91	1	0	0	0	0	1	0	0	0	7705	1725	60	3	2354	3	IL6ST	5	55264141	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10		55264141	125651119	12	6037											
SLU7	10569	hgsc.bcm.edu	37	5	159840612	159840612	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr5:159840612C>T	ENST00000297151.4	-	5	808	c.421G>A	c.(421-423)Gga>Aga	p.G141R		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	141					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATTTGGCTCCAACTCGCCTA	0.403																																																0													92	86	88					5																	159840612		2203	4300	6503	SO:0001583	missense	10569			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.421G>A	5.37:g.159840612C>T	ENSP00000297151:p.Gly141Arg		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954505	0.73902	.	.	ENSG00000164609	ENST00000297151;ENST00000521826	T;T	0.56941	1.32;0.43	5.56	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.91972	3.26	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	T	0.81953	-0.0697	10	0.59425	D	0.04	-17.6121	14.3914	0.66981	0.0:0.9289:0.0:0.0711	.	141	O95391	SLU7_HUMAN	R	141	ENSP00000297151:G141R;ENSP00000428943:G141R	ENSP00000297151:G141R	G	-	1	0	SLU7	159773190	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.390000	0.79816	1.352000	0.45808	-0.253000	0.11424	GGA		0.403	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		T	159840612	C	T	159840612	3	4	91	1	0	0	0	0	1	0	0	0	14761	603	21	2	1387	2	SLU7	5	159840612	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	104576471	159840612	21074648	13	6038											
FLT4	2324	hgsc.bcm.edu	37	5	180053263	180053263	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr5:180053263T>A	ENST00000261937.6	-	9	1184	c.1106A>T	c.(1105-1107)tAc>tTc	p.Y369F	FLT4_ENST00000393347.3_Missense_Mutation_p.Y369F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.Y369F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	369	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCATCCTTGTACCTGGCCAG	0.637																																					Colon(97;1075 1466 27033 27547 35871)											0													80	84	83					5																	180053263		2203	4300	6503	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1106A>T	5.37:g.180053263T>A	ENSP00000261937:p.Tyr369Phe		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.316386	0.23908	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.14391	2.51;2.51;2.51	4.46	3.25	0.37280	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09247	0.0228	L	0.35542	1.07	0.40515	D	0.980772	B;B;B	0.26120	0.142;0.019;0.019	B;B;B	0.27262	0.078;0.075;0.075	T	0.21759	-1.0236	9	0.17369	T	0.5	.	6.1841	0.20488	0.2041:0.0:0.1401:0.6558	.	369;369;369	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	F	369;369;369;179	ENSP00000261937:Y369F;ENSP00000377016:Y369F;ENSP00000426057:Y369F	ENSP00000261937:Y369F	Y	-	2	0	FLT4	179985869	0.994000	0.37717	1.000000	0.80357	0.478000	0.33099	0.062000	0.14389	0.664000	0.31047	0.454000	0.30748	TAC		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180053263	T	A	180053263	3	1	91	1	0	0	0	0	1	0	0	0	5946	1638	57	5	3081	5	FLT4	5	180053263	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10	20212651	180053263	861997	14	6039											
FTSJD2	23070	hgsc.bcm.edu	37	6	37429369	37429369	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr6:37429369C>G	ENST00000373451.4	+	11	1304	c.1140C>G	c.(1138-1140)agC>agG	p.S380R	CMTR1_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	380	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										AGATCCTCAGCAAGCAGCTGC	0.547																																																0													123	113	116					6																	37429369		2203	4300	6503	SO:0001583	missense	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1140C>G	6.37:g.37429369C>G	ENSP00000362550:p.Ser380Arg		A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647653	0.87958	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.36520	1.25;1.25	5.76	4.71	0.59529	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	M	0.90977	3.165	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.77004	0.967;0.989	T	0.68209	-0.5469	10	0.59425	D	0.04	-20.3025	14.7683	0.69657	0.0:0.9188:0.0:0.0812	.	324;380	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	R	380;324;324	ENSP00000362550:S380R;ENSP00000414233:S324R	ENSP00000362526:S324R	S	+	3	2	FTSJD2	37537347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.763000	0.62257	2.725000	0.93324	0.591000	0.81541	AGC		0.547	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		G	37429369	C	G	37429369	3	3	91	1	0	0	0	0	1	0	0	0	6093	709	25	4	1178	4	FTSJD2	6	37429369	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10		37429369	133685698	15	6040											
SLC22A7	10864	hgsc.bcm.edu	37	6	43271898	43271898	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr6:43271898T>C	ENST00000372585.5	+	10	1603	c.1508T>C	c.(1507-1509)cTg>cCg	p.L503P	SLC22A7_ENST00000372574.3_Missense_Mutation_p.L501P|SLC22A7_ENST00000372589.3_Missense_Mutation_p.L501P|ZNF318_ENST00000607252.1_5'Flank	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	503					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGGATCGCCCTGCTGGCTGCC	0.657																																																0													63	72	69					6																	43271898		2203	4299	6502	SO:0001583	missense	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1508T>C	6.37:g.43271898T>C	ENSP00000361666:p.Leu503Pro		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186809	0.78789	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.25	5.25	0.73442	.	0.278152	0.31246	N	0.007985	T	0.78419	0.4280	M	0.92367	3.3	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.66602	0.945;0.945	D	0.84265	0.0485	10	0.87932	D	0	.	12.6659	0.56842	0.0:0.0:0.0:1.0	.	501;501	Q9Y694-2;Q9Y694-3	.;.	P	501;503;501;196	ENSP00000361670:L501P;ENSP00000361666:L503P;ENSP00000361655:L501P;ENSP00000393836:L196P	ENSP00000361655:L501P	L	+	2	0	SLC22A7	43379876	0.621000	0.27077	0.966000	0.40874	0.880000	0.50808	4.826000	0.62715	1.982000	0.57802	0.402000	0.26972	CTG		0.657	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			C	43271898	T	C	43271898	3	2	91	1	0	0	0	0	1	0	0	0	14465	1580	55	3	1542	3	SLC22A7	6	43271898	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10	5842529	43271898	127843169	16	6041											
CD2AP	23607	hgsc.bcm.edu	37	6	47541956	47541956	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr6:47541956G>C	ENST00000359314.5	+	6	1154	c.698G>C	c.(697-699)aGt>aCt	p.S233T		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	233					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGAACATCCAGTAGTGAAACA	0.358																																																0													86	92	90					6																	47541956		2203	4300	6503	SO:0001583	missense	23607			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.698G>C	6.37:g.47541956G>C	ENSP00000352264:p.Ser233Thr		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777436	0.49786	.	.	ENSG00000198087	ENST00000359314	T	0.27256	1.68	5.97	3.2	0.36748	.	2.195920	0.01655	N	0.024767	T	0.16642	0.0400	M	0.70275	2.135	0.39354	D	0.965809	B	0.22003	0.063	B	0.25884	0.064	T	0.15925	-1.0420	10	0.41790	T	0.15	-2.9591	7.8474	0.29433	0.1328:0.2489:0.6183:0.0	.	233	Q9Y5K6	CD2AP_HUMAN	T	233	ENSP00000352264:S233T	ENSP00000352264:S233T	S	+	2	0	CD2AP	47649915	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	3.289000	0.51747	0.408000	0.25621	0.591000	0.81541	AGT		0.358	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			C	47541956	G	C	47541956	3	2	91	1	0	0	0	0	1	0	0	0	2996	1029	36	4	720	4	CD2AP	6	47541956	Missense_Mutation	SNP	G	TCGA-AK-3425-01A-02D-1361-10	4270058	47541956	123573111	17	6042											
SERAC1	84947	hgsc.bcm.edu	37	6	158565367	158565367	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr6:158565367A>G	ENST00000367104.3	-	7	704	c.573T>C	c.(571-573)ttT>ttC	p.F191F	SERAC1_ENST00000367101.1_Silent_p.F191F|SERAC1_ENST00000367102.2_Silent_p.F191F	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	191					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GTAGGAGAAAAAAGCGAAGAT	0.333																																																0													79	82	81					6																	158565367		2203	4300	6503	SO:0001819	synonymous_variant	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.573T>C	6.37:g.158565367A>G			Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	CCDS5255.1																																																																																				0.333	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		G	158565367	A	G	158565367	2	3	91	1	0	0	0	0	0	0	0	1	14080	11	1	3		3	SERAC1	6	158565367	Silent	SNP	A	TCGA-AK-3425-01A-02D-1361-10	111023411	158565367	12549700	18	6043											
STK31	56164	hgsc.bcm.edu;ucsc.edu	37	7	23821077	23821077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:23821077G>T	ENST00000355870.3	+	16	2124	c.2005G>T	c.(2005-2007)Gaa>Taa	p.E669*	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Nonsense_Mutation_p.E646*|STK31_ENST00000428484.1_Nonsense_Mutation_p.E646*|STK31_ENST00000433467.2_Nonsense_Mutation_p.E669*	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	669						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAAAATAAAAGAAGAAATAAC	0.299																																																0													64	71	68					7																	23821077		2203	4292	6495	SO:0001587	stop_gained	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2005G>T	7.37:g.23821077G>T	ENSP00000348132:p.Glu669*		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	38	7.091110	0.98055	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.07	3.2	0.36748	.	0.372764	0.26140	N	0.026109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.6284	13.8347	0.63402	0.0:0.3691:0.6309:0.0	.	.	.	.	X	669;669;646;646	.	ENSP00000346660:E646X	E	+	1	0	STK31	23787602	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	2.870000	0.48451	1.136000	0.42199	-0.499000	0.04595	GAA		0.299	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		T	23821077	G	T	23821077	4	4	91	1	0	0	0	0	0	1	0	0	15301	943	33	4	2067	4	STK31	7	23821077	Nonsense_Mutation	SNP	G	TCGA-AK-3425-01A-02D-1361-10		23821077	135317586	19	6044											
SMO	6608	hgsc.bcm.edu	37	7	128849218	128849218	+	Silent	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:128849218C>G	ENST00000249373.3	+	8	1726	c.1446C>G	c.(1444-1446)cgC>cgG	p.R482R	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	482					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	AGTGGGAGCGCAGCTTCCGGG	0.587			Mis		skin basal cell																																		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													106	89	94					7																	128849218		2203	4300	6503	SO:0001819	synonymous_variant	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1446C>G	7.37:g.128849218C>G			A4D1K5	Silent	SNP	ENST00000249373.3	37	CCDS5811.1																																																																																				0.587	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		G	128849218	C	G	128849218	2	3	91	1	0	0	0	0	0	0	0	1	14806	697	25	4		4	SMO	7	128849218	Silent	SNP	C	TCGA-AK-3425-01A-02D-1361-10	105028141	128849218	30289445	20	6045											
TSGA14	95681	hgsc.bcm.edu;ucsc.edu	37	7	130056770	130056770	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:130056770C>G	ENST00000223208.5	-	3	405	c.135G>C	c.(133-135)gaG>gaC	p.E45D	CEP41_ENST00000541543.1_Intron|CEP41_ENST00000343969.5_Missense_Mutation_p.E45D	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	45					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TTTTCTTAATCTCTTCGAGCT	0.333																																																0													123	118	120					7																	130056770		2202	4299	6501	SO:0001583	missense	0			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.135G>C	7.37:g.130056770C>G	ENSP00000223208:p.Glu45Asp		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297204	0.40694	.	.	ENSG00000106477	ENST00000223208;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282;ENST00000469826	D;D;D;D;D;D;T	0.89746	-2.56;-2.54;-2.17;-2.17;-2.2;-1.8;-1.22	5.71	3.89	0.44902	.	0.113385	0.64402	D	0.000017	D	0.85080	0.5615	M	0.62723	1.935	0.80722	D	1	B;B	0.26483	0.146;0.15	B;B	0.27887	0.084;0.039	T	0.79600	-0.1736	10	0.23891	T	0.37	-24.242	8.9824	0.35972	0.0:0.826:0.0:0.174	.	45;45	Q9BYV8-2;Q9BYV8	.;CEP41_HUMAN	D	45;45;10;10;42;10;32	ENSP00000223208:E45D;ENSP00000342738:E45D;ENSP00000419192:E10D;ENSP00000417593:E10D;ENSP00000420670:E42D;ENSP00000418363:E10D;ENSP00000418712:E32D	ENSP00000223208:E45D	E	-	3	2	TSGA14	129844006	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.120000	0.31271	1.413000	0.46997	0.655000	0.94253	GAG		0.333	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		G	130056770	C	G	130056770	3	3	91	1	0	0	0	0	1	0	0	0	16625	912	32	4	1022	4	TSGA14	7	130056770	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	1207552	130056770	29081893	21	6046											
KIAA1549	57670	hgsc.bcm.edu;ucsc.edu	37	7	138556052	138556052	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:138556052G>A	ENST00000422774.1	-	13	4450	c.4402C>T	c.(4402-4404)Cac>Tac	p.H1468Y	KIAA1549_ENST00000440172.1_Missense_Mutation_p.H1468Y|KIAA1549_ENST00000242365.4_Missense_Mutation_p.H1418Y			Q9HCM3	K1549_HUMAN	KIAA1549	1468						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGTCCACGTGCTCGAAGATG	0.597			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													48	57	54					7																	138556052		2057	4197	6254	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4402C>T	7.37:g.138556052G>A	ENSP00000416040:p.His1468Tyr		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755488	0.96898	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27890	1.64;1.64;1.66	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.998	D;D;D;D	0.91635	0.999;0.994;0.998;0.994	T	0.59595	-0.7425	10	0.87932	D	0	.	17.8161	0.88634	0.0:0.0:1.0:0.0	.	1468;252;1468;252	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	Y	1468;1418;1468	ENSP00000406661:H1468Y;ENSP00000242365:H1418Y;ENSP00000416040:H1468Y	ENSP00000242365:H1418Y	H	-	1	0	KIAA1549	138206592	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.263000	0.95617	2.676000	0.91093	0.655000	0.94253	CAC		0.597	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			A	138556052	G	A	138556052	3	1	91	1	0	0	0	0	1	0	0	0	8246	1319	46	2	1482	2	KIAA1549	7	138556052	Missense_Mutation	SNP	G	TCGA-AK-3425-01A-02D-1361-10	8499282	138556052	20582611	22	6047											
FAM115C	285966	hgsc.bcm.edu	37	7	143400301	143400301	+	Missense_Mutation	SNP	A	A	G	rs1568852		TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:143400301A>G	ENST00000441159.2	+	2	280	c.214A>G	c.(214-216)Act>Gct	p.T72A	FAM115C_ENST00000411497.2_Intron|FAM115C_ENST00000444908.2_Missense_Mutation_p.T72A|FAM115C_ENST00000357344.4_Missense_Mutation_p.T72A			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	72				T -> A (in Ref. 1; AAN87343 and 5; AAI17234). {ECO:0000305}.	hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCTGTCGCATACTGGCTTGGC	0.602																																																0													27	57	49					7																	143400301		1221	3223	4444	SO:0001583	missense	285966			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"family with sequence similarity 139, member A"	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.214A>G	7.37:g.143400301A>G	ENSP00000404265:p.Thr72Ala		B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	ENST00000441159.2	37		.	.	.	.	.	.	.	.	.	.	G	0.003	-2.521307	0.00149	.	.	ENSG00000170379	ENST00000444908;ENST00000357344;ENST00000441159	T;T;T	0.21191	2.02;2.02;2.02	3.92	-4.7	0.03288	.	0.749503	0.12146	N	0.495365	T	0.01976	0.0062	N	0.00066	-2.3	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24870	-1.0148	10	0.02654	T	1	-0.7804	0.7285	0.00953	0.2312:0.2226:0.3213:0.2248	.	72	A6NFQ2-2	.	A	72	ENSP00000412724:T72A;ENSP00000349902:T72A;ENSP00000404265:T72A	ENSP00000349902:T72A	T	+	1	0	FAM115C	143031234	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.290000	0.08354	-1.506000	0.01805	-0.684000	0.03749	ACT		0.602	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		G	143400301	A	G	143400301	3	3	91	1	0	0	0	0	1	0	0	0	5408	391	14	3	216	3	FAM115C	7	143400301	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10	4844249	143400301	15738362	23	6048											
NUB1	51667	hgsc.bcm.edu;ucsc.edu	37	7	151042440	151042440	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:151042440C>A	ENST00000355851.4	+	2	82	c.5C>A	c.(4-6)gCa>gAa	p.A2E	NUB1_ENST00000568733.1_Missense_Mutation_p.A26E|NUB1_ENST00000566856.1_Missense_Mutation_p.A2E|NUB1_ENST00000413040.2_Missense_Mutation_p.A26E	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	2					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCAGGGATGGCACAAAAGAAA	0.328																																																0													48	47	47					7																	151042440		1815	4081	5896	SO:0001583	missense	51667			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.5C>A	7.37:g.151042440C>A	ENSP00000348110:p.Ala2Glu		O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37		.	.	.	.	.	.	.	.	.	.	C	19.54	3.847403	0.71603	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000470229;ENST00000490215;ENST00000483358	T;T;T	0.41065	1.01;1.01;1.01	4.62	4.62	0.57501	.	0.102412	0.64402	D	0.000004	T	0.62672	0.2447	M	0.67953	2.075	0.48901	D	0.999721	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.91635	0.999;0.943;0.964	T	0.66248	-0.5971	10	0.87932	D	0	-3.6751	15.3677	0.74535	0.0:1.0:0.0:0.0	.	2;2;2	F8WDL9;Q9Y5A7;Q9Y5A7-2	.;NUB1_HUMAN;.	E	2	ENSP00000348110:A2E;ENSP00000418234:A2E;ENSP00000420086:A2E	ENSP00000348110:A2E	A	+	2	0	NUB1	150673373	0.999000	0.42202	0.998000	0.56505	0.930000	0.56654	4.542000	0.60677	2.558000	0.86282	0.655000	0.94253	GCA		0.328	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		A	151042440	C	A	151042440	3	1	91	1	0	0	0	0	1	0	0	0	10716	710	25	4	7	4	NUB1	7	151042440	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	7642139	151042440	8096223	24	6049											
PSD3	23362	hgsc.bcm.edu	37	8	18662356	18662356	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr8:18662356T>G	ENST00000327040.8	-	5	1789	c.1687A>C	c.(1687-1689)Act>Cct	p.T563P	PSD3_ENST00000440756.2_Missense_Mutation_p.T563P|PSD3_ENST00000286485.8_Missense_Mutation_p.T29P|PSD3_ENST00000523619.1_Missense_Mutation_p.T498P	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	563	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AAAATTTCAGTGCTCCCCATT	0.413																																																0													163	167	166					8																	18662356		2203	4300	6503	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1687A>C	8.37:g.18662356T>G	ENSP00000324127:p.Thr563Pro		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.77|14.77	2.634895|2.634895	0.47049|0.47049	.|.	.|.	ENSG00000156011|ENSG00000156011	ENST00000521027|ENST00000327040;ENST00000440756;ENST00000286485;ENST00000523619;ENST00000519851	.|T;T;T;T;T	.|0.19669	.|2.74;2.73;2.13;2.73;2.19	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.28962|0.28962	0.0719|0.0719	L|L	0.42245|0.42245	1.32|1.32	0.29933|0.29933	N|N	0.821692|0.821692	.|B;P	.|0.47604	.|0.372;0.898	.|B;P	.|0.49799	.|0.209;0.622	T|T	0.13045|0.13045	-1.0524|-1.0524	5|10	.|0.54805	.|T	.|0.06	.|.	14.5927|14.5927	0.68378|0.68378	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|563;29	.|E9KL50;Q9NYI0-3	.|.;.	P|P	10|563;563;29;498;4	.|ENSP00000324127:T563P;ENSP00000401704:T563P;ENSP00000286485:T29P;ENSP00000430640:T498P;ENSP00000429069:T4P	.|ENSP00000286485:T29P	H|T	-|-	2|1	0|0	PSD3|PSD3	18706636|18706636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.713000|0.713000	0.41058|0.41058	3.054000|3.054000	0.49908|0.49908	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	CAC|ACT		0.413	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		G	18662356	T	G	18662356	3	3	91	1	0	0	0	0	1	0	0	0	12653	1696	59	5	1504	5	PSD3	8	18662356	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10		18662356	127701666	25	6050											
CCDC25	55246	hgsc.bcm.edu;ucsc.edu	37	8	27622729	27622729	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr8:27622729T>C	ENST00000356537.4	-	2	161	c.68A>G	c.(67-69)aAa>aGa	p.K23R	CCDC25_ENST00000522915.1_Intron|CCDC25_ENST00000539095.1_5'UTR	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	23						extracellular vesicular exosome (GO:0070062)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		ACTTTCATATTTATCTTTTCC	0.323																																																0													55	53	54					8																	27622729		1787	4058	5845	SO:0001583	missense	55246			AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.68A>G	8.37:g.27622729T>C	ENSP00000348933:p.Lys23Arg		Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	37	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197004	0.79015	.	.	ENSG00000147419	ENST00000356537	.	.	.	6.01	6.01	0.97437	Domain of unknown function DUF814 (1);	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.91561	3.22	0.80722	D	1	D	0.53885	0.963	P	0.55615	0.78	D	0.84070	0.0379	9	0.87932	D	0	-23.8622	12.9203	0.58228	0.0:0.0:0.0:1.0	.	23	Q86WR0	CCD25_HUMAN	R	23	.	ENSP00000348933:K23R	K	-	2	0	CCDC25	27678648	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.767000	0.62286	2.307000	0.77673	0.528000	0.53228	AAA		0.323	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246		C	27622729	T	C	27622729	3	2	91	1	0	0	0	0	1	0	0	0	2802	1841	64	3	590	3	CCDC25	8	27622729	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10	8960373	27622729	118741293	26	6051											
ECM2	1842	hgsc.bcm.edu	37	9	95267851	95267851	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr9:95267851A>T	ENST00000344604.5	-	7	1577	c.1428T>A	c.(1426-1428)ttT>ttA	p.F476L	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.F454L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	476					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GTATAATTCTAAATTTATTTT	0.328																																																0													81	90	87					9																	95267851		2203	4300	6503	SO:0001583	missense	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1428T>A	9.37:g.95267851A>T	ENSP00000344758:p.Phe476Leu		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.373872	0.42105	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.18016	2.24;5.96	5.85	0.704	0.18121	.	0.088733	0.85682	N	0.000000	T	0.09468	0.0233	N	0.00879	-1.12	0.54753	D	0.999984	P;D;B	0.54397	0.614;0.966;0.381	B;D;B	0.64506	0.432;0.926;0.325	T	0.15009	-1.0452	10	0.06891	T	0.86	.	11.4194	0.49971	0.6014:0.0:0.3986:0.0	.	476;454;454	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	L	454;476	ENSP00000393971:F454L;ENSP00000344758:F476L	ENSP00000344758:F476L	F	-	3	2	ECM2	94307672	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.542000	0.23222	0.174000	0.19809	0.533000	0.62120	TTT		0.328	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		T	95267851	A	T	95267851	3	4	91	1	0	0	0	0	1	0	0	0	4900	359	13	5	687	5	ECM2	9	95267851	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10		95267851	45945580	27	6052											
OLFM1	10439	hgsc.bcm.edu	37	9	137982084	137982084	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr9:137982084C>G	ENST00000371793.3	+	2	445	c.194C>G	c.(193-195)tCt>tGt	p.S65C	OLFM1_ENST00000392991.4_Missense_Mutation_p.S65C|OLFM1_ENST00000252854.4_Missense_Mutation_p.S47C|OLFM1_ENST00000371796.3_Missense_Mutation_p.S38C|OLFM1_ENST00000277415.11_Missense_Mutation_p.S47C	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	65					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GTGTACAGCTCTGCCCAGGAC	0.622																																																0													59	50	53					9																	137982084		2203	4300	6503	SO:0001583	missense	10439			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.194C>G	9.37:g.137982084C>G	ENSP00000360858:p.Ser65Cys		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.	.	.	.	.	.	.	.	.	.	C	26.6	4.755140	0.89843	.	.	ENSG00000130558	ENST00000277415;ENST00000252854;ENST00000339720;ENST00000371796;ENST00000392991;ENST00000371793	T;D;T;D;T;D	0.90004	0.59;-2.6;0.59;-2.6;0.59;-2.6	4.75	4.75	0.60458	.	0.116151	0.64402	D	0.000010	D	0.93363	0.7884	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.996;0.999	D;D;D;D	0.91635	0.93;0.999;0.969;0.964	D	0.94185	0.7435	10	0.87932	D	0	.	18.1101	0.89533	0.0:1.0:0.0:0.0	.	65;65;47;47	Q99784;Q99784-2;Q6IMJ8;Q6IMJ7	NOE1_HUMAN;.;.;.	C	47;47;54;38;65;65	ENSP00000277415:S47C;ENSP00000252854:S47C;ENSP00000340318:S54C;ENSP00000360861:S38C;ENSP00000376717:S65C;ENSP00000360858:S65C	ENSP00000252854:S47C	S	+	2	0	OLFM1	137121905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.556000	0.82233	2.309000	0.77851	0.655000	0.94253	TCT		0.622	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		G	137982084	C	G	137982084	3	3	91	1	0	0	0	0	1	0	0	0	10854	913	32	4	146	4	OLFM1	9	137982084	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	42714233	137982084	3231347	28	6053											
DNTT	1791	hgsc.bcm.edu	37	10	98064300	98064300	+	Missense_Mutation	SNP	C	C	G	rs148791733		TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr10:98064300C>G	ENST00000371174.2	+	1	148	c.46C>G	c.(46-48)Ccc>Gcc	p.P16A	DNTT_ENST00000419175.1_Missense_Mutation_p.P16A|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	16					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAGAAGAGACCCCGGCAGAC	0.567																																																0													53	59	57					10																	98064300		2203	4300	6503	SO:0001583	missense	1791			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.46C>G	10.37:g.98064300C>G	ENSP00000360216:p.Pro16Ala		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072311	0.01918	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.10382	2.88;2.88	5.76	-0.0252	0.13936	.	0.610673	0.17480	N	0.172743	T	0.06325	0.0163	L	0.49640	1.575	0.20403	N	0.9999	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.003	T	0.42949	-0.9421	10	0.02654	T	1	-1.1525	1.4246	0.02320	0.1285:0.3158:0.2936:0.2621	.	16;16	P04053-2;P04053	.;TDT_HUMAN	A	16	ENSP00000401169:P16A;ENSP00000360216:P16A	ENSP00000360216:P16A	P	+	1	0	DNTT	98054290	0.971000	0.33674	0.968000	0.41197	0.483000	0.33249	0.220000	0.17660	0.279000	0.22186	0.655000	0.94253	CCC		0.567	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		G	98064300	C	G	98064300	3	3	91	1	0	0	0	0	1	0	0	0	4682	507	18	4	48	4	DNTT	10	98064300	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10		98064300	37470447	29	6054											
C10orf118	55088	hgsc.bcm.edu;ucsc.edu	37	10	115895715	115895715	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr10:115895715C>G	ENST00000369287.3	-	9	1713	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	C10orf118_ENST00000543782.1_Missense_Mutation_p.E81Q	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		483										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCTTCTAGTTCCTTTATTTTG	0.328																																																0													161	147	152					10																	115895715		2203	4300	6503	SO:0001583	missense	55088																														ENST00000369287.3:c.1447G>C	10.37:g.115895715C>G	ENSP00000358293:p.Glu483Gln		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.488082|4.488082	0.84854|0.84854	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353|ENST00000428953	T;T|.	0.58210|.	0.35;0.35|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72581|0.72581	0.3478|0.3478	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.996;0.997|.	T|T	0.69774|0.69774	-0.5054|-0.5054	10|5	0.45353|.	T|.	0.12|.	.|.	19.1558|19.1558	0.93510|0.93510	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	81;483|.	F6VCB7;Q7Z3E2|.	.;CJ118_HUMAN|.	Q|A	483;81;589|111	ENSP00000358293:E483Q;ENSP00000441576:E81Q|.	ENSP00000358293:E483Q|.	E|G	-|-	1|2	0|0	C10orf118|C10orf118	115885705|115885705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.316000|7.316000	0.79007|0.79007	2.597000|2.597000	0.87782|0.87782	0.549000|0.549000	0.68633|0.68633	GAA|GGA		0.328	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			G	115895715	C	G	115895715	3	3	91	1	0	0	0	0	1	0	0	0	1589	864	30	4	1281	4	C10orf118	10	115895715	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	17831415	115895715	19639032	30	6055											
MUC6	4588	hgsc.bcm.edu	37	11	1016991	1016991	+	Missense_Mutation	SNP	T	T	G	rs72311383|rs74788171	byFrequency	TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr11:1016991T>G	ENST00000421673.2	-	31	5860	c.5810A>C	c.(5809-5811)aAc>aCc	p.N1937T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1937	Approximate repeats.|Thr-rich.			NITPKHTSTGTRTPV -> KITTNPTSIGSSTPM (in Ref. 5; AAA35866). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGGTGATGTTGGTGGTAGA	0.557													T|||	2	0.000399361	0.0	0.0	5008	,	,		25974	0.002		0.0	False		,,,				2504	0.0															0													557	571	566					11																	1016991		2199	4294	6493	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5810A>C	11.37:g.1016991T>G	ENSP00000406861:p.Asn1937Thr		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.104302	0.00356	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.4	-1.53	0.08611	.	.	.	.	.	T	0.03827	0.0108	N	0.00648	-1.295	0.09310	N	1	B	0.13594	0.008	B	0.18561	0.022	T	0.44922	-0.9296	9	0.13853	T	0.58	.	5.5029	0.16838	0.0:0.3657:0.4291:0.2051	.	1937	Q6W4X9	MUC6_HUMAN	T	1937	ENSP00000406861:N1937T	ENSP00000406861:N1937T	N	-	2	0	MUC6	1006991	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.460000	0.21924	-0.212000	0.10109	-1.123000	0.02005	AAC		0.557	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		G	1016991	T	G	1016991	3	3	91	1	0	0	0	0	1	0	0	0	9982	1725	60	5	1521	5	MUC6	11	1016991	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10		1016991	133989525	31	6056											
STIM1	6786	hgsc.bcm.edu;ucsc.edu	37	11	3988829	3988829	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr11:3988829C>G	ENST00000300737.4	+	2	756	c.187C>G	c.(187-189)Ctc>Gtc	p.L63V	STIM1_ENST00000527651.1_Missense_Mutation_p.L63V	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	63	EF-hand.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGATGAGAAACTCAGCTTCGA	0.478																																																0													211	183	193					11																	3988829		2201	4298	6499	SO:0001583	missense	6786			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"Sterile alpha motif (SAM) domain containing"	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.187C>G	11.37:g.3988829C>G	ENSP00000300737:p.Leu63Val		E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660197	0.88154	.	.	ENSG00000167323	ENST00000300737;ENST00000527651	T;T	0.80653	-0.38;-1.4	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.89424	0.6711	M	0.73962	2.25	0.80722	D	1	P;P	0.39535	0.677;0.677	P;P	0.59012	0.85;0.85	D	0.89080	0.3475	10	0.72032	D	0.01	-9.6939	17.776	0.88508	0.0:1.0:0.0:0.0	.	63;63	E9PQJ4;Q13586	.;STIM1_HUMAN	V	63	ENSP00000300737:L63V;ENSP00000436208:L63V	ENSP00000300737:L63V	L	+	1	0	STIM1	3945405	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.279000	0.78599	2.806000	0.96561	0.655000	0.94253	CTC		0.478	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		G	3988829	C	G	3988829	3	3	91	1	0	0	0	0	1	0	0	0	15288	565	20	4	193	4	STIM1	11	3988829	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	2971838	3988829	131017687	32	6057											
OR52R1	119695	hgsc.bcm.edu	37	11	4825594	4825594	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr11:4825594C>G	ENST00000356069.2	-	1	16	c.17G>C	c.(16-18)gGg>gCg	p.G6A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.G85A	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	6						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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGCTGTTCCCTGAAGCCAG	0.463																																																0													104	92	96					11																	4825594		2201	4298	6499	SO:0001583	missense	119695			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.17G>C	11.37:g.4825594C>G	ENSP00000348368:p.Gly6Ala		Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468123	0.43839	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00368	9.81;7.76	5.57	0.586	0.17434	.	1.506670	0.04216	U	0.332617	T	0.00241	0.0007	N	0.25286	0.73	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.44802	-0.9304	10	0.72032	D	0.01	.	1.8086	0.03086	0.1274:0.3819:0.1242:0.3665	.	6	Q8NGF1	O52R1_HUMAN	A	6;85	ENSP00000348368:G6A;ENSP00000369742:G85A	ENSP00000348368:G6A	G	-	2	0	OR52R1	4782170	0.000000	0.05858	0.001000	0.08648	0.695000	0.40330	-1.073000	0.03430	0.183000	0.20059	0.650000	0.86243	GGG		0.463	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		G	4825594	C	G	4825594	3	3	91	1	0	0	0	0	1	0	0	0	11133	623	22	4	933	4	OR52R1	11	4825594	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	836765	4825594	130180922	33	6058											
EIF4G2	1982	hgsc.bcm.edu	37	11	10825488	10825488	+	Silent	SNP	A	A	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr11:10825488A>C	ENST00000526148.1	-	8	1170	c.660T>G	c.(658-660)ctT>ctG	p.L220L	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000396525.2_Silent_p.L220L|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Silent_p.L220L|EIF4G2_ENST00000339995.5_Silent_p.L220L	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAATAAGATCAAGCTTGCCAA	0.443																																																0													144	138	140					11																	10825488		2201	4294	6495	SO:0001819	synonymous_variant	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.660T>G	11.37:g.10825488A>C				Silent	SNP	ENST00000526148.1	37	CCDS31428.1																																																																																				0.443	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		C	10825488	A	C	10825488	2	2	91	1	0	0	0	0	0	0	0	1	5039	117	5	5		5	EIF4G2	11	10825488	Silent	SNP	A	TCGA-AK-3425-01A-02D-1361-10	5999894	10825488	124181028	34	6059											
EXT2	2132	hgsc.bcm.edu	37	11	44130770	44130770	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr11:44130770T>G	ENST00000343631.3	+	3	692	c.563T>G	c.(562-564)tTg>tGg	p.L188W	EXT2_ENST00000358681.4_Missense_Mutation_p.L188W|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000395673.3_Missense_Mutation_p.L221W|EXT2_ENST00000533608.1_Missense_Mutation_p.L188W			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	188					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						AATCACCTGTTGTTCAACATG	0.443			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0													119	117	118					11																	44130770		2203	4300	6503	SO:0001583	missense	2132	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.563T>G	11.37:g.44130770T>G	ENSP00000342656:p.Leu188Trp		B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903184	0.92035	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.98510	0.9503	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.998;0.999;0.999	D	0.99824	1.1049	10	0.87932	D	0	-6.8675	15.58	0.76425	0.0:0.0:0.0:1.0	.	188;188;188;188;201	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	W	188;188;221;188	ENSP00000431173:L188W;ENSP00000351509:L188W;ENSP00000379032:L221W;ENSP00000342656:L188W	ENSP00000342656:L188W	L	+	2	0	EXT2	44087346	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.930000	0.87610	2.076000	0.62316	0.533000	0.62120	TTG		0.443	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		G	44130770	T	G	44130770	3	3	91	1	0	0	0	0	1	0	0	0	5326	1821	63	5	672	5	EXT2	11	44130770	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10	33305282	44130770	90875746	35	6060											
ITPR2	3709	hgsc.bcm.edu;ucsc.edu	37	12	26703220	26703220	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:26703220A>G	ENST00000381340.3	-	37	5449	c.5033T>C	c.(5032-5034)tTa>tCa	p.L1678S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1678					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATTTCTCGTAATGTCTGAAG	0.289																																																0													92	80	84					12																	26703220		1790	4057	5847	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5033T>C	12.37:g.26703220A>G	ENSP00000370744:p.Leu1678Ser		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204941	0.79127	.	.	ENSG00000123104	ENST00000381340	T	0.75704	-0.96	5.14	5.14	0.70334	.	0.067347	0.64402	D	0.000013	D	0.87208	0.6120	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88989	0.3413	10	0.59425	D	0.04	.	15.288	0.73843	1.0:0.0:0.0:0.0	.	1678	Q14571	ITPR2_HUMAN	S	1678	ENSP00000370744:L1678S	ENSP00000370744:L1678S	L	-	2	0	ITPR2	26594487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.673000	0.91186	2.076000	0.62316	0.460000	0.39030	TTA		0.289	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		G	26703220	A	G	26703220	3	3	91	1	0	0	0	0	1	0	0	0	7923	372	13	3	3156	3	ITPR2	12	26703220	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10		26703220	107148675	36	6061											
DIP2B	57609	hgsc.bcm.edu	37	12	51072503	51072503	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:51072503C>G	ENST00000301180.5	+	8	992	c.958C>G	c.(958-960)Cag>Gag	p.Q320E		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	320						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGAGGGACGGCAGATGACCCC	0.517																																																0													79	73	75					12																	51072503		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.958C>G	12.37:g.51072503C>G	ENSP00000301180:p.Gln320Glu		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	8.637	0.894977	0.17613	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.47528	0.84	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	L	0.39633	1.23	0.80722	D	1	B;P	0.35612	0.004;0.512	B;B	0.30251	0.016;0.113	T	0.28618	-1.0038	10	0.02654	T	1	-11.7826	18.2696	0.90064	0.0:1.0:0.0:0.0	.	320;330	Q9P265;E9PHD6	DIP2B_HUMAN;.	E	330;320	ENSP00000301180:Q320E	ENSP00000301180:Q320E	Q	+	1	0	DIP2B	49358770	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.699000	0.61796	2.619000	0.88677	0.467000	0.42956	CAG		0.517	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		G	51072503	C	G	51072503	3	3	91	1	0	0	0	0	1	0	0	0	4530	711	25	4	988	4	DIP2B	12	51072503	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	24369283	51072503	82779392	37	6062											
CPSF6	11052	hgsc.bcm.edu;ucsc.edu	37	12	69644959	69644959	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:69644959A>G	ENST00000435070.2	+	2	221	c.111A>G	c.(109-111)atA>atG	p.I37M	CPSF6_ENST00000456847.3_Missense_Mutation_p.I37M|CPSF6_ENST00000550987.1_3'UTR|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.I37M	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	37					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ACGATGTCATATCTCCATCTG	0.408																																																0													84	76	79					12																	69644959		2203	4300	6503	SO:0001583	missense	11052			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.111A>G	12.37:g.69644959A>G	ENSP00000391774:p.Ile37Met		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354787	0.61293	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	4.73	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.64404	1.975	0.80722	D	1	D;P	0.60575	0.988;0.943	D;D	0.69654	0.965;0.924	T	0.64782	-0.6326	8	.	.	.	-2.4128	8.8002	0.34905	0.2893:0.6355:0.0:0.0752	.	37;37	Q16630-2;Q16630	.;CPSF6_HUMAN	M	37	.	.	I	+	3	3	CPSF6	67931226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.356000	0.34079	0.592000	0.29728	0.460000	0.39030	ATA		0.408	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		G	69644959	A	G	69644959	3	3	91	1	0	0	0	0	1	0	0	0	3831	439	16	3	117	3	CPSF6	12	69644959	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10	18572456	69644959	64206936	38	6063											
PPP1R12A	4659	hgsc.bcm.edu;ucsc.edu	37	12	80214666	80214666	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:80214666A>G	ENST00000450142.2	-	8	1268	c.1002T>C	c.(1000-1002)atT>atC	p.I334I	PPP1R12A_ENST00000437004.2_Silent_p.I334I|PPP1R12A_ENST00000546369.1_Silent_p.I247I|PPP1R12A_ENST00000261207.5_Silent_p.I334I|RP11-530C5.2_ENST00000548469.1_RNA|PPP1R12A_ENST00000550107.1_Silent_p.I334I	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	334					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCAGAGATTCAATACGGGATG	0.358																																																0													128	117	120					12																	80214666		1862	4084	5946	SO:0001819	synonymous_variant	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1002T>C	12.37:g.80214666A>G			B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Silent	SNP	ENST00000450142.2	37	CCDS44947.1																																																																																				0.358	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		G	80214666	A	G	80214666	2	3	91	1	0	0	0	0	0	0	0	1	12359	126	5	3		3	PPP1R12A	12	80214666	Silent	SNP	A	TCGA-AK-3425-01A-02D-1361-10	10569707	80214666	53637229	39	6064											
OAS1	4938	hgsc.bcm.edu;ucsc.edu	37	12	113357353	113357353	+	Missense_Mutation	SNP	C	C	T	rs373092179		TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:113357353C>T	ENST00000202917.5	+	6	1461	c.1198C>T	c.(1198-1200)Ctc>Ttc	p.L400F	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.P367L|OAS1_ENST00000551241.1_Intron	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	400					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CTGCACCATCCTCTGAATGCC	0.522																																																0								C	LEU/PRO,PHE/LEU	0,4406		0,0,2203	109	93	98		1100,1198	1.6	0	12		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	OAS1	NM_001032409.1,NM_016816.2	98,22	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	367/415,400/401	113357353	1,13005	2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1198C>T	12.37:g.113357353C>T	ENSP00000202917:p.Leu400Phe		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.339|8.339	0.828357|0.828357	0.16749|0.16749	0.0|0.0	1.16E-4|1.16E-4	ENSG00000089127|ENSG00000089127	ENST00000202917|ENST00000445409	T|T	0.06068|0.07444	3.35|3.19	3.55|3.55	1.58|1.58	0.23477|0.23477	.|.	.|12.085900	.|0.00166	.|N	.|0.000000	T|T	0.05044|0.05044	0.0135|0.0135	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B	0.30033|0.21225	0.266|0.053	B|B	0.24394|0.17098	0.053|0.017	T|T	0.33497|0.33497	-0.9866|-0.9866	9|10	0.87932|0.22706	D|T	0|0.39	.|.	5.2818|5.2818	0.15680|0.15680	0.0:0.7077:0.0:0.2923|0.0:0.7077:0.0:0.2923	.|.	400|367	P00973|P00973-3	OAS1_HUMAN|.	F|L	400|367	ENSP00000202917:L400F|ENSP00000388001:P367L	ENSP00000202917:L400F|ENSP00000388001:P367L	L|P	+|+	1|2	0|0	OAS1|OAS1	111841736|111841736	0.011000|0.011000	0.17503|0.17503	0.004000|0.004000	0.12327|0.12327	0.005000|0.005000	0.04900|0.04900	-0.042000|-0.042000	0.12063|0.12063	0.435000|0.435000	0.26365|0.26365	-0.355000|-0.355000	0.07637|0.07637	CTC|CCT		0.522	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			T	113357353	C	T	113357353	3	4	91	1	0	0	0	0	1	0	0	0	10801	681	24	2	1277	2	OAS1	12	113357353	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	33142687	113357353	20494542	40	6065											
FBXW8	26259	hgsc.bcm.edu	37	12	117448164	117448164	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:117448164T>A	ENST00000309909.5	+	8	1358	c.1276T>A	c.(1276-1278)Ttg>Atg	p.L426M	FBXW8_ENST00000455858.2_Missense_Mutation_p.L360M			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	426					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		ACGCCGCCTCTTGAAGCTGGG	0.547																																																0													176	137	150					12																	117448164		2203	4300	6503	SO:0001583	missense	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1276T>A	12.37:g.117448164T>A	ENSP00000310686:p.Leu426Met		Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714153	0.48622	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.04862	3.54;3.54	5.81	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.509297	0.21256	N	0.077556	T	0.08088	0.0202	L	0.29908	0.895	0.24904	N	0.992086	D;P	0.55172	0.97;0.923	P;B	0.54312	0.748;0.424	T	0.19679	-1.0298	10	0.39692	T	0.17	-2.9501	5.1445	0.14977	0.277:0.0:0.1466:0.5764	.	426;360	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	M	426;360;360	ENSP00000310686:L426M;ENSP00000389144:L360M	ENSP00000310686:L426M	L	+	1	2	FBXW8	115932547	0.511000	0.26179	1.000000	0.80357	0.698000	0.40448	1.123000	0.31308	2.217000	0.71921	0.533000	0.62120	TTG		0.547	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		A	117448164	T	A	117448164	3	1	91	1	0	0	0	0	1	0	0	0	5772	1606	56	5	1306	5	FBXW8	12	117448164	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10	4090811	117448164	16403731	41	6066											
RFC5	5985	hgsc.bcm.edu;ucsc.edu	37	12	118462688	118462688	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:118462688T>A	ENST00000454402.2	+	6	572	c.454T>A	c.(454-456)Tgc>Agc	p.C152S	RFC5_ENST00000229043.3_Missense_Mutation_p.C67S|RFC5_ENST00000392542.2_Missense_Mutation_p.C131S	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	152					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACCAGATTCTGCCTCATCTG	0.448																																																0													82	85	84					12																	118462688		2203	4300	6503	SO:0001583	missense	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.454T>A	12.37:g.118462688T>A	ENSP00000408295:p.Cys152Ser		A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802501	0.90538	.	.	ENSG00000111445	ENST00000449641;ENST00000537315;ENST00000229043;ENST00000454402;ENST00000392542	T;T;D	0.92805	1.29;0.98;-3.11	5.47	5.47	0.80525	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.999	D	0.97593	1.0118	10	0.87932	D	0	-15.5631	14.5424	0.68005	0.0:0.0:0.0:1.0	.	131;166;152	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	S	67;67;67;152;131	ENSP00000229043:C67S;ENSP00000408295:C152S;ENSP00000376325:C131S	ENSP00000229043:C67S	C	+	1	0	RFC5	116947071	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	7.934000	0.87649	2.071000	0.62044	0.460000	0.39030	TGC		0.448	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		A	118462688	T	A	118462688	3	1	91	1	0	0	0	0	1	0	0	0	13254	1580	55	5	482	5	RFC5	12	118462688	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10	1014524	118462688	15389207	42	6067											
PCDH17	27253	hgsc.bcm.edu;ucsc.edu	37	13	58299308	58299308	+	Silent	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr13:58299308G>A	ENST00000377918.3	+	4	3386	c.3360G>A	c.(3358-3360)caG>caA	p.Q1120Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1120					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TTCTTGAGCAGCTTGACCACC	0.537																																					Melanoma(72;952 1291 1619 12849 33676)											0													172	177	176					13																	58299308		2203	4300	6503	SO:0001819	synonymous_variant	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3360G>A	13.37:g.58299308G>A			A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	CCDS31986.1																																																																																				0.537	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		A	58299308	G	A	58299308	2	1	91	1	0	0	0	0	0	0	0	1	11514	962	34	2		2	PCDH17	13	58299308	Silent	SNP	G	TCGA-AK-3425-01A-02D-1361-10		58299308	56870570	43	6068											
DIAPH3	81624	hgsc.bcm.edu	37	13	60616944	60616944	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr13:60616944T>G	ENST00000400324.4	-	5	726	c.506A>C	c.(505-507)aAg>aCg	p.K169T	DIAPH3_ENST00000267215.4_Missense_Mutation_p.K169T|DIAPH3_ENST00000400330.1_Missense_Mutation_p.K169T|DIAPH3_ENST00000400319.1_Missense_Mutation_p.K99T|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400320.1_Missense_Mutation_p.K123T|DIAPH3_ENST00000377908.2_Missense_Mutation_p.K158T	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	169	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCGGCTTCTCTTAAGACTTCC	0.398																																																0													77	73	74					13																	60616944		1821	4073	5894	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.506A>C	13.37:g.60616944T>G	ENSP00000383178:p.Lys169Thr		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438360	0.62955	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.65	4.27	0.50696	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.106361	0.64402	D	0.000005	D	0.90473	0.7016	M	0.72118	2.19	0.29857	N	0.827958	P;P;P;P	0.48998	0.627;0.918;0.866;0.822	B;P;P;P	0.54401	0.219;0.751;0.527;0.583	D	0.86327	0.1696	10	0.49607	T	0.09	.	7.0814	0.25234	0.0:0.2216:0.0:0.7784	.	99;123;158;169	A8MYX0;C9JL55;C9JDG1;Q9NSV4	.;.;.;DIAP3_HUMAN	T	169;169;158;123;99;158;99;123;169;169	ENSP00000383178:K169T;ENSP00000383184:K169T;ENSP00000367141:K158T;ENSP00000383173:K99T;ENSP00000383174:K123T;ENSP00000267215:K169T	ENSP00000267215:K169T	K	-	2	0	DIAPH3	59514945	1.000000	0.71417	0.984000	0.44739	0.603000	0.37013	1.611000	0.36879	0.773000	0.33404	0.477000	0.44152	AAG		0.398	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		G	60616944	T	G	60616944	3	3	91	1	0	0	0	0	1	0	0	0	4522	1609	56	5	3191	5	DIAPH3	13	60616944	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10	2317636	60616944	54552934	44	6069											
PELI2	57161	hgsc.bcm.edu	37	14	56746421	56746421	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr14:56746421A>G	ENST00000267460.4	+	3	521	c.235A>G	c.(235-237)Ata>Gta	p.I79V		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	79	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TCAACACAGTATATCCTACAC	0.318																																																0													135	133	133					14																	56746421		2203	4300	6503	SO:0001583	missense	57161			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"Pellino homologs"	8828	protein-coding gene	gene with protein product		614798	"pellino (Drosophila) homolog 2", "pellino homolog 2 (Drosophila)"			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.235A>G	14.37:g.56746421A>G	ENSP00000267460:p.Ile79Val		B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	A	8.592	0.884720	0.17540	.	.	ENSG00000139946	ENST00000267460	T	0.41400	1.0	4.84	4.84	0.62591	.	0.141155	0.64402	D	0.000008	T	0.26122	0.0637	N	0.24115	0.695	0.48511	D	0.999662	B	0.06786	0.001	B	0.10450	0.005	T	0.07908	-1.0748	10	0.10636	T	0.68	-19.69	10.9339	0.47235	0.924:0.0:0.076:0.0	.	79	Q9HAT8	PELI2_HUMAN	V	79	ENSP00000267460:I79V	ENSP00000267460:I79V	I	+	1	0	PELI2	55816174	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	6.152000	0.71812	2.159000	0.67721	0.455000	0.32223	ATA		0.318	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			G	56746421	A	G	56746421	3	3	91	1	0	0	0	0	1	0	0	0	11724	449	16	3	245	3	PELI2	14	56746421	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10		56746421	50603119	45	6070											
AHNAK2	113146	hgsc.bcm.edu	37	14	105406727	105406727	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr14:105406727A>G	ENST00000333244.5	-	7	15180	c.15061T>C	c.(15061-15063)Ttt>Ctt	p.F5021L	AHNAK2_ENST00000557457.1_Missense_Mutation_p.F19L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5021						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCATGGCAAAGCCAGGCTTT	0.547																																																0													104	105	105					14																	105406727		2012	4182	6194	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15061T>C	14.37:g.105406727A>G	ENSP00000353114:p.Phe5021Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535270	0.45176	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02103	4.45;5.4	4.15	0.262	0.15597	.	.	.	.	.	T	0.01905	0.0060	L	0.41415	1.275	0.09310	N	1	B	0.30146	0.27	B	0.28139	0.086	T	0.46978	-0.9152	9	0.07990	T	0.79	.	7.165	0.25685	0.7077:0.0:0.2923:0.0	.	5021	Q8IVF2	AHNK2_HUMAN	L	19;5021	ENSP00000450998:F19L;ENSP00000353114:F5021L	ENSP00000353114:F5021L	F	-	1	0	AHNAK2	104477772	0.030000	0.19436	0.000000	0.03702	0.003000	0.03518	0.892000	0.28322	0.057000	0.16193	0.459000	0.35465	TTT		0.547	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105406727	A	G	105406727	3	3	91	1	0	0	0	0	1	0	0	0	415	72	3	3	2330	3	AHNAK2	14	105406727	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10	48660306	105406727	1942813	46	6071											
MAGEL2	54551	hgsc.bcm.edu;ucsc.edu	37	15	23890714	23890714	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr15:23890714T>C	ENST00000532292.1	-	1	461	c.367A>G	c.(367-369)Ata>Gta	p.I123V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTGCGGTCTATAGAAGAGGCC	0.592																																																0													23	24	24					15																	23890714		1871	4105	5976	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.367A>G	15.37:g.23890714T>C	ENSP00000433433:p.Ile123Val			Missense_Mutation	SNP	ENST00000532292.1	37																																																																																					0.592	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		C	23890714	T	C	23890714	3	2	91	1	0	0	0	0	1	0	0	0	9191	1406	49	3	1577	3	MAGEL2	15	23890714	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10		23890714	78640678	47	6072											
APBA2	321	hgsc.bcm.edu;ucsc.edu	37	15	29385399	29385399	+	Silent	SNP	G	G	T	rs370646611		TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr15:29385399G>T	ENST00000558402.1	+	8	1790	c.1191G>T	c.(1189-1191)gcG>gcT	p.A397A	APBA2_ENST00000561069.1_Silent_p.A397A|APBA2_ENST00000558259.1_Silent_p.A397A|APBA2_ENST00000558330.1_Silent_p.A397A|APBA2_ENST00000411764.1_Silent_p.A397A			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	397	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGATGCAAGCGCAGGAGGCCG	0.592																																																0													65	59	61					15																	29385399		2203	4300	6503	SO:0001819	synonymous_variant	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1191G>T	15.37:g.29385399G>T			E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																				0.592	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		T	29385399	G	T	29385399	2	4	91	1	0	0	0	0	0	0	0	1	757	1074	38	4		4	APBA2	15	29385399	Silent	SNP	G	TCGA-AK-3425-01A-02D-1361-10	5494685	29385399	73145993	48	6073											
TP53BP1	7158	hgsc.bcm.edu	37	15	43738686	43738686	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr15:43738686G>A	ENST00000263801.3	-	14	3176	c.2924C>T	c.(2923-2925)tCt>tTt	p.S975F	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S980F|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S980F|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S980F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	975					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCAGCCCCAGAATCCCCTTT	0.468								Other conserved DNA damage response genes																																								0													101	101	101					15																	43738686		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2924C>T	15.37:g.43738686G>A	ENSP00000263801:p.Ser975Phe		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020236	0.75275	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.12879	3.44;3.44;3.41;3.44;2.64	5.47	5.47	0.80525	.	0.247893	0.37053	N	0.002278	T	0.32071	0.0817	M	0.74881	2.28	0.48830	D	0.999711	D;P;P;P	0.55385	0.971;0.828;0.892;0.892	P;B;P;P	0.52909	0.713;0.44;0.643;0.643	T	0.03130	-1.1069	10	0.72032	D	0.01	-6.5825	18.6892	0.91577	0.0:0.0:1.0:0.0	.	980;975;980;980	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	F	975;980;980;980;940	ENSP00000263801:S975F;ENSP00000371475:S980F;ENSP00000371470:S980F;ENSP00000393497:S980F;ENSP00000388028:S940F	ENSP00000263801:S975F	S	-	2	0	TP53BP1	41525978	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.574000	0.53863	2.729000	0.93468	0.655000	0.94253	TCT		0.468	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			A	43738686	G	A	43738686	3	1	91	1	0	0	0	0	1	0	0	0	16388	942	33	2	3054	2	TP53BP1	15	43738686	Missense_Mutation	SNP	G	TCGA-AK-3425-01A-02D-1361-10	14353287	43738686	58792706	49	6074											
AP3B2	8120	hgsc.bcm.edu	37	15	83332659	83332660	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr15:83332659_83332660insA	ENST00000261722.3	-	19	2479_2480	c.2272_2273insT	c.(2272-2274)tcafs	p.S758fs	AP3B2_ENST00000535348.1_Frame_Shift_Ins_p.S726fs|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Frame_Shift_Ins_p.S777fs	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	758	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ATCAGAGGATGACGCTTCTCCT	0.545																																																0																																										SO:0001589	frameshift_variant	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2273dupT	15.37:g.83332660_83332660dupA	ENSP00000261722:p.Ser758fs		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Frame_Shift_Ins	INS	ENST00000261722.3	37	CCDS45331.1																																																																																				0.545	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			A	83332660	-	A	83332659	7	5	91	1	0	1	1	0	0	0	0	0	745	1294	45	0	1007	0	AP3B2	15	83332659	Frame_Shift_Ins	INS	-	TCGA-AK-3425-01A-02D-1361-10	39593973	83332659	19198733	50	6075											
LRRK1	79705	hgsc.bcm.edu	37	15	101595297	101595297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr15:101595297G>T	ENST00000388948.3	+	27	4560	c.4201G>T	c.(4201-4203)Gag>Tag	p.E1401*	LRRK1_ENST00000284395.5_Nonsense_Mutation_p.E1398*|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGACGTCAAGGAGCACATCAA	0.557																																																0													136	133	134					15																	101595297		2059	4199	6258	SO:0001587	stop_gained	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4201G>T	15.37:g.101595297G>T	ENSP00000373600:p.Glu1401*			Nonsense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264221	0.95399	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762	.	.	.	4.78	4.78	0.61160	.	0.116059	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.1639	0.89718	0.0:0.0:1.0:0.0	.	.	.	.	X	1401;1398;92	.	ENSP00000284395:E1398X	E	+	1	0	LRRK1	99412820	1.000000	0.71417	0.936000	0.37596	0.810000	0.45777	5.934000	0.70138	2.347000	0.79759	0.591000	0.81541	GAG		0.557	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101595297	G	T	101595297	4	4	91	1	0	0	0	0	0	1	0	0	9034	1175	41	4	4303	4	LRRK1	15	101595297	Nonsense_Mutation	SNP	G	TCGA-AK-3425-01A-02D-1361-10	18262638	101595297	936095	51	6076											
ATP2A1	487	hgsc.bcm.edu	37	16	28909647	28909647	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr16:28909647G>T	ENST00000357084.3	+	14	1906	c.1639G>T	c.(1639-1641)Gcg>Tcg	p.A547S	ATP2A1_ENST00000395503.4_Missense_Mutation_p.A547S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A422S	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	547					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AAAGATCATGGCGGTGATCAA	0.652																																																0													56	62	60					16																	28909647		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1639G>T	16.37:g.28909647G>T	ENSP00000349595:p.Ala547Ser		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	2.124	-0.400846	0.04865	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.82619	-1.63;-1.63;-1.63	5.43	-9.36	0.00629	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.604497	0.17647	N	0.166834	T	0.58666	0.2138	L	0.27975	0.815	0.28813	N	0.898119	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.59473	-0.7448	10	0.02654	T	1	.	8.8327	0.35093	0.3466:0.0:0.4531:0.2002	.	422;547;547	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	S	547;547;584;422	ENSP00000349595:A547S;ENSP00000378879:A547S;ENSP00000443101:A422S	ENSP00000349595:A547S	A	+	1	0	ATP2A1	28817148	0.000000	0.05858	0.009000	0.14445	0.530000	0.34684	-1.209000	0.03002	-1.051000	0.03226	-0.894000	0.02916	GCG		0.652	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		T	28909647	G	T	28909647	3	4	91	1	0	0	0	0	1	0	0	0	1136	1203	42	4	1693	4	ATP2A1	16	28909647	Missense_Mutation	SNP	G	TCGA-AK-3425-01A-02D-1361-10		28909647	61445106	52	6077											
ITGAL	3683	hgsc.bcm.edu	37	16	30495168	30495168	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr16:30495168A>G	ENST00000356798.6	+	8	923	c.743A>G	c.(742-744)gAg>gGg	p.E248G	ITGAL_ENST00000358164.5_Missense_Mutation_p.E165G|ITGAL_ENST00000433423.2_Intron|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000454514.2_3'UTR|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	248	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TTCCGGGAGGAGCTGGGGGCC	0.582																																					NSCLC(110;1462 1641 3311 33990 49495)											0													92	89	90					16																	30495168		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.743A>G	16.37:g.30495168A>G	ENSP00000349252:p.Glu248Gly		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.092449	0.55968	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.84223	-1.82;-1.82	5.96	4.86	0.63082	von Willebrand factor, type A (3);	0.393242	0.21649	N	0.071208	D	0.82462	0.5042	M	0.64404	1.975	0.23946	N	0.996388	P;B	0.41784	0.762;0.24	B;B	0.41202	0.35;0.1	T	0.75314	-0.3361	10	0.34782	T	0.22	.	10.2107	0.43138	0.9217:0.0:0.0783:0.0	.	165;248	Q96HB1;P20701	.;ITAL_HUMAN	G	248;165	ENSP00000349252:E248G;ENSP00000350886:E165G	ENSP00000349252:E248G	E	+	2	0	ITGAL	30402669	0.081000	0.21417	0.011000	0.14972	0.288000	0.27193	3.645000	0.54389	2.283000	0.76528	0.477000	0.44152	GAG		0.582	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			G	30495168	A	G	30495168	3	3	91	1	0	0	0	0	1	0	0	0	7888	304	11	3	773	3	ITGAL	16	30495168	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10	1585521	30495168	59859585	53	6078											
CNOT1	23019	hgsc.bcm.edu	37	16	58577565	58577565	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr16:58577565A>G	ENST00000317147.5	-	31	4712	c.4380T>C	c.(4378-4380)ccT>ccC	p.P1460P	CNOT1_ENST00000441024.2_Silent_p.P1460P|CNOT1_ENST00000569240.1_Silent_p.P1455P|CNOT1_ENST00000245138.4_Silent_p.P311P	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1460	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCATGAGCAAAGGTTCCCTGC	0.428																																																0													150	129	136					16																	58577565		2198	4300	6498	SO:0001819	synonymous_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4380T>C	16.37:g.58577565A>G			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																				0.428	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		G	58577565	A	G	58577565	2	3	91	1	0	0	0	0	0	0	0	1	3619	59	3	3		3	CNOT1	16	58577565	Silent	SNP	A	TCGA-AK-3425-01A-02D-1361-10	28082397	58577565	31777188	54	6079											
TMEM102	284114	hgsc.bcm.edu	37	17	7339626	7339626	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr17:7339626G>C	ENST00000323206.1	+	3	601	c.328G>C	c.(328-330)Gcc>Ccc	p.A110P	FGF11_ENST00000293829.4_5'Flank|RP11-104H15.8_ENST00000576615.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.A110P|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	110			A -> V (in dbSNP:rs3809718).		apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GGGTCCCTACGCCCGGGGACC	0.622																																																0													52	57	55					17																	7339626		2203	4300	6503	SO:0001583	missense	284114			AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.328G>C	17.37:g.7339626G>C	ENSP00000315387:p.Ala110Pro		D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164508	0.57476	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.51817	0.69;0.69	5.66	-5.74	0.02391	.	1.349380	0.04583	N	0.395255	T	0.43964	0.1271	L	0.39898	1.24	0.09310	N	0.999996	P	0.52842	0.956	P	0.49708	0.62	T	0.54330	-0.8310	10	0.62326	D	0.03	-4.9548	7.8389	0.29387	0.5863:0.0:0.295:0.1187	.	110	Q8N9M5	TM102_HUMAN	P	110	ENSP00000315387:A110P;ENSP00000379815:A110P	ENSP00000315387:A110P	A	+	1	0	TMEM102	7280350	0.002000	0.14202	0.008000	0.14137	0.995000	0.86356	0.044000	0.13992	-1.133000	0.02903	0.655000	0.94253	GCC		0.622	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		C	7339626	G	C	7339626	3	2	91	1	0	0	0	0	1	0	0	0	16022	1087	38	4	334	4	TMEM102	17	7339626	Missense_Mutation	SNP	G	TCGA-AK-3425-01A-02D-1361-10		7339626	73855584	55	6080											
USP43	124739	hgsc.bcm.edu	37	17	9631914	9631916	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	GGG	GGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr17:9631914_9631916delGGG	ENST00000285199.7	+	15	3075_3077	c.2979_2981delGGG	c.(2977-2982)cagggg>cag	p.G994del	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_In_Frame_Del_p.G989del	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	994					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GACCCCTGCAGGGGACACTCACC	0.581																																																0																																										SO:0001651	inframe_deletion	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2979_2981delGGG	17.37:g.9631914_9631916delGGG	ENSP00000285199:p.Gly994del		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	In_Frame_Del	DEL	ENST00000285199.7	37	CCDS45610.1																																																																																				0.581	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		-	9631916	GGG	-	9631914	7	5	91	1	0	1	0	1	0	0	0	0	17079	991	35	0	3037	0	USP43	17	9631914	In_Frame_Del	DEL	GGG	TCGA-AK-3425-01A-02D-1361-10	2292288	9631914	71563296	56	6081											
PHF12	57649	hgsc.bcm.edu	37	17	27233226	27233226	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr17:27233226A>G	ENST00000332830.4	-	15	3800	c.2990T>C	c.(2989-2991)gTg>gCg	p.V997A	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GGAGCGCAGCACAGGGCCCTG	0.582																																																0													37	45	42					17																	27233226		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2990T>C	17.37:g.27233226A>G	ENSP00000329933:p.Val997Ala			Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	a	13.88	2.369025	0.42003	.	.	ENSG00000109118	ENST00000332830	D	0.96554	-4.05	5.14	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	L	0.47716	1.5	0.80722	D	1	P;P	0.34662	0.462;0.462	B;B	0.31614	0.133;0.133	D	0.91456	0.5185	10	0.42905	T	0.14	-23.698	9.8648	0.41136	0.847:0.0:0.0:0.153	.	979;997	B4DFE2;Q96QT6	.;PHF12_HUMAN	A	997	ENSP00000329933:V997A	ENSP00000329933:V997A	V	-	2	0	PHF12	24257352	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.266000	0.58871	1.943000	0.56356	0.529000	0.55759	GTG		0.582	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		G	27233226	A	G	27233226	3	3	91	1	0	0	0	0	1	0	0	0	11825	159	6	3	28	3	PHF12	17	27233226	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10	17601312	27233226	53961984	57	6082											
AP2B1	163	hgsc.bcm.edu;ucsc.edu	37	17	33921080	33921080	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr17:33921080A>C	ENST00000262325.7	+	2	584	c.31A>C	c.(31-33)Aaa>Caa	p.K11Q	AP2B1_ENST00000312678.8_Missense_Mutation_p.K11Q|AP2B1_ENST00000592545.1_Missense_Mutation_p.K11Q|AP2B1_ENST00000538556.1_5'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.K11Q|AP2B1_ENST00000537622.2_Missense_Mutation_p.K11Q	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	11					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CACAACCAATAAAAAAGGTAA	0.353																																																0													47	44	45					17																	33921080		2199	4297	6496	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.31A>C	17.37:g.33921080A>C	ENSP00000262325:p.Lys11Gln		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117551	0.77323	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000537622	T;T;T	0.13196	2.61;2.61;2.61	4.28	4.28	0.50868	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.86573	2.825	0.80722	D	1	P;P;B	0.48911	0.917;0.68;0.443	P;P;B	0.62649	0.905;0.507;0.373	T	0.41251	-0.9519	10	0.66056	D	0.02	-2.6475	12.6688	0.56857	1.0:0.0:0.0:0.0	.	11;11;11	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	Q	11	ENSP00000262325:K11Q;ENSP00000314414:K11Q;ENSP00000437413:K11Q	ENSP00000262325:K11Q	K	+	1	0	AP2B1	30945193	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.977000	0.88081	1.928000	0.55862	0.383000	0.25322	AAA		0.353	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			C	33921080	A	C	33921080	3	2	91	1	0	0	0	0	1	0	0	0	741	363	13	5	33	5	AP2B1	17	33921080	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10	6687854	33921080	47274130	58	6083											
HELZ	9931	hgsc.bcm.edu;ucsc.edu	37	17	65110477	65110477	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr17:65110477A>C	ENST00000358691.5	-	28	4047	c.3881T>G	c.(3880-3882)aTt>aGt	p.I1294S	HELZ_ENST00000580168.1_Missense_Mutation_p.I1295S	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1294						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGTGTTCGAATCTTATTAAT	0.343																																																0													165	148	153					17																	65110477		1811	4081	5892	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3881T>G	17.37:g.65110477A>C	ENSP00000351524:p.Ile1294Ser		I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147084	0.37923	.	.	ENSG00000198265	ENST00000358691	D	0.83837	-1.77	5.65	5.65	0.86999	.	0.053496	0.85682	D	0.000000	T	0.74869	0.3773	L	0.29908	0.895	0.41601	D	0.988852	P;P	0.49783	0.652;0.928	B;B	0.39465	0.225;0.3	T	0.79992	-0.1569	10	0.87932	D	0	-18.2388	14.8491	0.70284	1.0:0.0:0.0:0.0	.	1295;1294	B7ZLW2;P42694	.;HELZ_HUMAN	S	1294	ENSP00000351524:I1294S	ENSP00000351524:I1294S	I	-	2	0	HELZ	62540939	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.915000	0.69973	2.154000	0.67381	0.445000	0.29226	ATT		0.343	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		C	65110477	A	C	65110477	3	2	91	1	0	0	0	0	1	0	0	0	7051	101	4	5	1971	5	HELZ	17	65110477	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10	31189397	65110477	16084733	59	6084											
SPIRE1	56907	hgsc.bcm.edu	37	18	12454459	12454459	+	Silent	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr18:12454459T>C	ENST00000409402.4	-	13	1929	c.1662A>G	c.(1660-1662)gaA>gaG	p.E554E	SPIRE1_ENST00000410092.3_Silent_p.E540E|SPIRE1_ENST00000309836.5_Silent_p.E343E|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Silent_p.E420E|SPIRE1_ENST00000383356.2_Silent_p.E381E	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GAGCGAGGCATTCCACTGGGT	0.453																																																0													148	135	140					18																	12454459		2203	4300	6503	SO:0001819	synonymous_variant	56907			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"spire homolog 1 (Drosophila)", "spire family actin nucleation factor 1"			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1662A>G	18.37:g.12454459T>C				Silent	SNP	ENST00000409402.4	37	CCDS45829.1																																																																																				0.453	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		C	12454459	T	C	12454459	2	2	91	1	0	0	0	0	0	0	0	1	15076	1490	52	3		3	SPIRE1	18	12454459	Silent	SNP	T	TCGA-AK-3425-01A-02D-1361-10		12454459	65622789	60	6085											
FECH	2235	hgsc.bcm.edu;ucsc.edu	37	18	55238682	55238682	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr18:55238682C>A	ENST00000262093.5	-	4	556	c.405G>T	c.(403-405)tgG>tgT	p.W135C	FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Missense_Mutation_p.W141C	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	135					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GCTTGGAAGTCCATATCTTGA	0.478																																																0													127	110	116					18																	55238682		2203	4300	6503	SO:0001583	missense	2235			D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"protoporphyria"	612386	"ferrochelatase (protoporphyria)"			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.405G>T	18.37:g.55238682C>A	ENSP00000262093:p.Trp135Cys		A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771936	0.90108	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.96940	-4.18;-4.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99091	1.0840	10	0.62326	D	0.03	-13.4827	19.6196	0.95650	0.0:1.0:0.0:0.0	.	135;141	P22830;P22830-2	HEMH_HUMAN;.	C	135;141	ENSP00000262093:W135C;ENSP00000372326:W141C	ENSP00000262093:W135C	W	-	3	0	FECH	53389680	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.663000	0.83820	2.750000	0.94351	0.561000	0.74099	TGG		0.478	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			A	55238682	C	A	55238682	3	1	91	1	0	0	0	0	1	0	0	0	5810	856	30	4	898	4	FECH	18	55238682	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	42784223	55238682	22838566	61	6086											
ALPK2	115701	hgsc.bcm.edu;ucsc.edu	37	18	56171280	56171280	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr18:56171280C>A	ENST00000361673.3	-	11	6343	c.6130G>T	c.(6130-6132)Gat>Tat	p.D2044Y		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2044	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTTTCCCATCCCTGATGGAA	0.443																																																0													189	181	184					18																	56171280		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6130G>T	18.37:g.56171280C>A	ENSP00000354991:p.Asp2044Tyr		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395619	0.83011	.	.	ENSG00000198796	ENST00000361673	T	0.06218	3.33	5.63	5.63	0.86233	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.070034	0.51477	D	0.000081	T	0.21307	0.0513	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.00059	-1.2165	10	0.62326	D	0.03	-11.7448	19.3517	0.94389	0.0:1.0:0.0:0.0	.	2044	Q86TB3	ALPK2_HUMAN	Y	2044	ENSP00000354991:D2044Y	ENSP00000354991:D2044Y	D	-	1	0	ALPK2	54322260	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.426000	0.80270	2.680000	0.91292	0.644000	0.83932	GAT		0.443	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		A	56171280	C	A	56171280	3	1	91	1	0	0	0	0	1	0	0	0	545	855	30	4	394	4	ALPK2	18	56171280	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	932598	56171280	21905968	62	6087											
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9057886	9057886	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:9057886C>G	ENST00000397910.4	-	3	29763	c.29560G>C	c.(29560-29562)Gtt>Ctt	p.V9854L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9856	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGTGAAAACAGTGGTATCG	0.468																																																0													154	145	148					19																	9057886		2010	4183	6193	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29560G>C	19.37:g.9057886C>G	ENSP00000381008:p.Val9854Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.579	0.291676	0.10567	.	.	ENSG00000181143	ENST00000397910	T	0.35605	1.3	2.43	-4.75	0.03239	.	.	.	.	.	T	0.18551	0.0445	N	0.19112	0.55	.	.	.	B	0.02656	0.0	B	0.06405	0.002	T	0.23261	-1.0193	8	0.87932	D	0	.	4.0956	0.09990	0.0:0.2634:0.3471:0.3895	.	9854	B5ME49	.	L	9854	ENSP00000381008:V9854L	ENSP00000381008:V9854L	V	-	1	0	MUC16	8918886	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.919000	0.00090	-1.056000	0.03205	-0.232000	0.12228	GTT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9057886	C	G	9057886	3	3	91	1	0	0	0	0	1	0	0	0	9975	478	17	4	14291	4	MUC16	19	9057886	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10		9057886	50071097	63	6088											
KANK2	25959	hgsc.bcm.edu;ucsc.edu	37	19	11277265	11277265	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:11277265T>C	ENST00000586659.1	-	13	2839	c.2525A>G	c.(2524-2526)gAg>gGg	p.E842G	KANK2_ENST00000355150.5_Missense_Mutation_p.E842G|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000432929.2_Missense_Mutation_p.E850G|KANK2_ENST00000589359.1_Missense_Mutation_p.E850G			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	842					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTAGGGCTCTCGTCATCTGA	0.587																																																0													124	109	114					19																	11277265		2203	4300	6503	SO:0001583	missense	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2525A>G	19.37:g.11277265T>C	ENSP00000465650:p.Glu842Gly		B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722299	0.48728	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39787	1.06;1.08	3.11	3.11	0.35812	.	0.597988	0.16146	N	0.227512	T	0.42765	0.1217	N	0.22421	0.69	0.34849	D	0.741459	D;D	0.61080	0.963;0.989	P;D	0.70487	0.644;0.969	T	0.43426	-0.9392	10	0.19147	T	0.46	-23.7638	8.0124	0.30361	0.0:0.0:0.0:1.0	.	842;850	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	G	850;842	ENSP00000395650:E850G;ENSP00000347276:E842G	ENSP00000347276:E842G	E	-	2	0	KANK2	11138265	0.517000	0.26226	0.987000	0.45799	0.598000	0.36846	1.545000	0.36169	1.675000	0.50919	0.383000	0.25322	GAG		0.587	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		C	11277265	T	C	11277265	3	2	91	1	0	0	0	0	1	0	0	0	7979	1551	54	3	34	3	KANK2	19	11277265	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10	2219379	11277265	47851718	64	6089											
CYP4F12	66002	hgsc.bcm.edu;ucsc.edu	37	19	15794425	15794425	+	Missense_Mutation	SNP	A	A	G	rs116788636|rs386807235	byFrequency	TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:15794425A>G	ENST00000550308.1	+	7	1150	c.770A>G	c.(769-771)cAc>cGc	p.H257R	CYP4F12_ENST00000324632.10_Missense_Mutation_p.H257R	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	257					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CGGCGCTTCCACAGGGCCTGC	0.547													.|||	73	0.0145767	0.0522	0.0043	5008	,	,		20966	0.0		0.001	False		,,,				2504	0.0															0								A	ARG/HIS	173,4223		0,173,2025	79	81	80		770	-4.9	0.1	19	dbSNP_132	80	1,8589		0,1,4294	no	missense	CYP4F12	NM_023944.3	29	0,174,6319	GG,GA,AA		0.0116,3.9354,1.3399	benign	257/525	15794425	174,12812	2198	4295	6493	SO:0001583	missense	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.770A>G	19.37:g.15794425A>G	ENSP00000448998:p.His257Arg		E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	20	0.009157509157509158	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	0.001	-3.865349	0.00003	0.039354	1.16E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.67865	-0.29;-0.29	2.47	-4.94	0.03057	.	1.089430	0.07278	N	0.870346	T	0.05090	0.0136	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11542	-1.0583	10	0.02654	T	1	.	5.3926	0.16251	0.2262:0.0:0.5255:0.2483	.	257	Q9HCS2	CP4FC_HUMAN	R	257	ENSP00000448998:H257R;ENSP00000321821:H257R	ENSP00000321821:H257R	H	+	2	0	CYP4F12	15655425	0.000000	0.05858	0.056000	0.19401	0.005000	0.04900	-0.089000	0.11180	-1.586000	0.01632	-4.406000	0.00006	CAC		0.547	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			G	15794425	A	G	15794425	3	3	91	1	0	0	0	0	1	0	0	0	4189	159	6	3	792	3	CYP4F12	19	15794425	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10	4517160	15794425	43334558	65	6090											
ZNF682	91120	hgsc.bcm.edu;ucsc.edu	37	19	20117844	20117844	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:20117844T>A	ENST00000397165.2	-	4	627	c.467A>T	c.(466-468)aAa>aTa	p.K156I	ZNF682_ENST00000597972.1_Missense_Mutation_p.K162I|ZNF682_ENST00000397162.1_Missense_Mutation_p.K124I|ZNF682_ENST00000358523.5_Missense_Mutation_p.K124I|ZNF682_ENST00000595736.1_Missense_Mutation_p.K80I|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						ATTTGATGATTTACTAAAGAC	0.299																																																0													67	63	64					19																	20117844		1812	4076	5888	SO:0001583	missense	91120			AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"Zinc fingers, C2H2-type", "-"	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.467A>T	19.37:g.20117844T>A	ENSP00000380351:p.Lys156Ile		B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	T	5.628	0.300516	0.10678	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.52295	0.67;0.67;0.67	1.23	1.23	0.21249	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43122	0.1233	M	0.76328	2.33	0.09310	N	1	B	0.24092	0.097	B	0.20384	0.029	T	0.44651	-0.9314	9	0.56958	D	0.05	.	4.0246	0.09682	0.0:0.0:0.3777:0.6222	.	156	O95780	ZN682_HUMAN	I	156;124;124	ENSP00000380351:K156I;ENSP00000380348:K124I;ENSP00000351324:K124I	ENSP00000351324:K124I	K	-	2	0	ZNF682	19978844	0.000000	0.05858	0.011000	0.14972	0.006000	0.05464	-0.630000	0.05502	0.532000	0.28657	0.358000	0.22013	AAA		0.299	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		A	20117844	T	A	20117844	3	1	91	1	0	0	0	0	1	0	0	0	18094	1841	64	5	1033	5	ZNF682	19	20117844	Missense_Mutation	SNP	T	TCGA-AK-3425-01A-02D-1361-10	4323419	20117844	39011139	66	6091											
FBXO27	126433	hgsc.bcm.edu;ucsc.edu	37	19	39517640	39517640	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:39517640C>T	ENST00000292853.4	-	5	697	c.578G>A	c.(577-579)gGa>gAa	p.G193E	FBXO27_ENST00000509137.2_Missense_Mutation_p.G193E|FBXO27_ENST00000600828.1_Missense_Mutation_p.G192E	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	193	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GTGTCGGGCTCCCCACCTGTG	0.552																																																0													87	88	88					19																	39517640		2203	4300	6503	SO:0001583	missense	126433			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"F-boxes /  "other""	18753	protein-coding gene	gene with protein product		609099	"F-box only protein 27"			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.578G>A	19.37:g.39517640C>T	ENSP00000292853:p.Gly193Glu		Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821319	0.50633	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.26518	1.73;1.73	3.97	0.41	0.16387	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.436751	0.18874	N	0.128765	T	0.11793	0.0287	L	0.28458	0.855	0.26887	N	0.967412	B	0.34349	0.45	B	0.33295	0.161	T	0.19321	-1.0309	10	0.09590	T	0.72	-33.6935	2.4972	0.04624	0.182:0.4856:0.2242:0.1082	.	193	Q8NI29	FBX27_HUMAN	E	193	ENSP00000292853:G193E;ENSP00000437662:G193E	ENSP00000292853:G193E	G	-	2	0	FBXO27	44209480	0.001000	0.12720	0.830000	0.32933	0.050000	0.14768	-0.517000	0.06275	0.086000	0.17137	0.491000	0.48974	GGA		0.552	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			T	39517640	C	T	39517640	3	4	91	1	0	0	0	0	1	0	0	0	5739	855	30	2	281	2	FBXO27	19	39517640	Missense_Mutation	SNP	C	TCGA-AK-3425-01A-02D-1361-10	19399796	39517640	19611343	67	6092											
ZNF845	91664	hgsc.bcm.edu	37	19	53856496	53856496	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:53856496A>G	ENST00000595091.1	+	5	2787	c.2568A>G	c.(2566-2568)gaA>gaG	p.E856E	ZNF845_ENST00000458035.1_Silent_p.E856E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	856					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATACTGGAGAAAAACCTTACA	0.383																																																0													33	32	32					19																	53856496		692	1591	2283	SO:0001819	synonymous_variant	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2568A>G	19.37:g.53856496A>G				Silent	SNP	ENST00000595091.1	37	CCDS46170.1																																																																																				0.383	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		G	53856496	A	G	53856496	2	3	91	1	0	0	0	0	0	0	0	1	18196	11	1	3		3	ZNF845	19	53856496	Silent	SNP	A	TCGA-AK-3425-01A-02D-1361-10	14338856	53856496	5272487	68	6093											
ZNF337	26152	hgsc.bcm.edu	37	20	25655968	25655968	+	Silent	SNP	C	C	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr20:25655968C>T	ENST00000376436.1	-	4	2495	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G	RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.G652G|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.G620G|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	652					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGGCTTCTCCCCTGAGTGTG	0.527																																																0													82	80	81					20																	25655968		2203	4300	6503	SO:0001819	synonymous_variant	26152				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1956G>A	20.37:g.25655968C>T			B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809542	0.31961	.	.	ENSG00000130684	ENST00000376412	.	.	.	1.13	0.113	0.14631	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3842	0.16208	0.0:0.7807:0.0:0.2193	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF337	25603968	0.001000	0.12720	0.024000	0.17045	0.921000	0.55340	-1.113000	0.03296	0.045000	0.15804	0.298000	0.19748	.		0.527	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			T	25655968	C	T	25655968	2	4	91	1	0	0	0	0	0	0	0	1	17858	610	22	2		2	ZNF337	20	25655968	Silent	SNP	C	TCGA-AK-3425-01A-02D-1361-10		25655968	37369552	69	6094											
TRPM2	7226	hgsc.bcm.edu	37	21	45798894	45798894	+	Silent	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr21:45798894C>A	ENST00000397928.1	+	8	1474	c.1029C>A	c.(1027-1029)gcC>gcA	p.A343A	TRPM2_ENST00000300482.5_Silent_p.A343A|TRPM2_ENST00000397932.2_Silent_p.A343A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.A343A	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	343					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCGACAACGCCACCACCAACG	0.627																																																0													66	60	62					21																	45798894		2203	4300	6503	SO:0001819	synonymous_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1029C>A	21.37:g.45798894C>A			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																				0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45798894	C	A	45798894	2	1	91	1	0	0	0	0	0	0	0	1	16591	581	21	4		4	TRPM2	21	45798894	Silent	SNP	C	TCGA-AK-3425-01A-02D-1361-10		45798894	2331001	70	6095											
MICAL3	57553	hgsc.bcm.edu	37	22	18389489	18389489	+	Silent	SNP	C	C	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr22:18389489C>T	ENST00000441493.2	-	2	442	c.90G>A	c.(88-90)aaG>aaA	p.K30K	MICAL3_ENST00000383094.3_Silent_p.K30K|MICAL3_ENST00000414725.2_Silent_p.K30K|MICAL3_ENST00000207726.7_Silent_p.K30K|MICAL3_ENST00000429452.1_Silent_p.K30K|MICAL3_ENST00000444520.1_Silent_p.K30K|MICAL3_ENST00000400561.2_Silent_p.K30K|MICAL3_ENST00000585038.1_Silent_p.K30K	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	30	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCTGGAAAGCCTTGAGGGTTC	0.527																																																0													152	142	145					22																	18389489		1568	3582	5150	SO:0001819	synonymous_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.90G>A	22.37:g.18389489C>T			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	CCDS46659.1																																																																																				0.527	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			T	18389489	C	T	18389489	2	4	91	1	0	0	0	0	0	0	0	1	9573	680	24	2		2	MICAL3	22	18389489	Silent	SNP	C	TCGA-AK-3425-01A-02D-1361-10		18389489	32915077	71	6096											
SLC7A4	6545	hgsc.bcm.edu	37	22	21385634	21385634	+	Silent	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr22:21385634G>A	ENST00000382932.2	-	2	535	c.468C>T	c.(466-468)caC>caT	p.H156H	MIR649_ENST00000384843.1_RNA|AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.H156H	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	156				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263). {ECO:0000305}.	basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.H156Q(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AAGAACCCACGTGGGTCTCAG	0.632																																																1	Substitution - Missense(1)	lung(1)											33	35	35					22																	21385634		2203	4299	6502	SO:0001819	synonymous_variant	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.468C>T	22.37:g.21385634G>A			Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	ENST00000382932.2	37	CCDS33608.1																																																																																				0.632	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		A	21385634	G	A	21385634	2	1	91	1	0	0	0	0	0	0	0	1	14705	1136	40	1		1	SLC7A4	22	21385634	Silent	SNP	G	TCGA-AK-3425-01A-02D-1361-10	2996145	21385634	29918932	72	6097											
SMARCB1	6598	hgsc.bcm.edu	37	22	24159114	24159114	+	Silent	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr22:24159114C>A	ENST00000263121.7	+	6	982	c.786C>A	c.(784-786)gtC>gtA	p.V262V	SMARCB1_ENST00000407422.3_Silent_p.V253V|SMARCB1_ENST00000407082.3_Silent_p.V216V|SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000344921.6_Silent_p.V271V	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	262	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(3)|p.E210fs*15(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACCAGCGCGTCATCATCAAGG	0.602			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	4	Unknown(3)|Deletion - Frameshift(1)	central_nervous_system(3)|soft_tissue(1)											96	72	80					22																	24159114		2203	4300	6503	SO:0001819	synonymous_variant	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.786C>A	22.37:g.24159114C>A			O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	ENST00000263121.7	37	CCDS13817.1																																																																																				0.602	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		A	24159114	C	A	24159114	2	1	91	1	0	0	0	0	0	0	0	1	14780	813	29	4		4	SMARCB1	22	24159114	Silent	SNP	C	TCGA-AK-3425-01A-02D-1361-10	2773480	24159114	27145452	73	6098											
CCDC120	90060	hgsc.bcm.edu	37	X	48919829	48919829	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chrX:48919829A>G	ENST00000376396.3	+	3	241	c.22A>G	c.(22-24)Atc>Gtc	p.I8V	CCDC120_ENST00000422185.2_Missense_Mutation_p.I8V|CCDC120_ENST00000597275.1_Missense_Mutation_p.I8V|CCDC120_ENST00000536628.2_Intron|CCDC120_ENST00000496529.2_Missense_Mutation_p.I8V|CCDC120_ENST00000603986.1_Missense_Mutation_p.I43V	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	8										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGGTCAGCTGATCAGCTCTCC	0.567																																																0													148	94	112					X																	48919829		2203	4300	6503	SO:0001583	missense	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.22A>G	X.37:g.48919829A>G	ENSP00000365577:p.Ile8Val		B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138036	0.77775	.	.	ENSG00000147144	ENST00000376396;ENST00000422185	.	.	.	5.51	4.34	0.51931	.	0.098704	0.44688	N	0.000428	T	0.47358	0.1441	L	0.38175	1.15	0.80722	D	1	B;B	0.32245	0.361;0.361	B;B	0.36666	0.23;0.23	T	0.36286	-0.9754	9	0.38643	T	0.18	-4.2591	8.3674	0.32395	0.9077:0.0:0.0923:0.0	.	43;8	B4DFC1;Q96HB5	.;CC120_HUMAN	V	8	.	ENSP00000365577:I8V	I	+	1	0	CCDC120	48806773	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.565000	0.53798	0.732000	0.32470	0.356000	0.21956	ATC		0.567	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		G	48919829	A	G	48919829	3	3	91	1	0	0	0	0	1	0	0	0	2758	333	12	3	24	3	CCDC120	23	48919829	Missense_Mutation	SNP	A	TCGA-AK-3425-01A-02D-1361-10		48919829	106350731	74	6099											
ACSL4	2182	hgsc.bcm.edu;ucsc.edu	37	X	108912271	108912271	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chrX:108912271A>G	ENST00000469796.2	-	10	1653	c.1257T>C	c.(1255-1257)ctT>ctC	p.L419L	ACSL4_ENST00000348502.6_Silent_p.L378L|ACSL4_ENST00000340800.2_Silent_p.L419L			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	419					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	ACAGATTGCAAAGAGGTGCAT	0.318																																					Pancreas(188;358 2127 38547 41466 45492)											0													136	130	132					X																	108912271		2203	4297	6500	SO:0001819	synonymous_variant	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1257T>C	X.37:g.108912271A>G			D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	ENST00000469796.2	37	CCDS14548.1																																																																																				0.318	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		G	108912271	A	G	108912271	2	3	91	1	0	0	0	0	0	0	0	1	179	1	1	3		3	ACSL4	23	108912271	Silent	SNP	A	TCGA-AK-3425-01A-02D-1361-10	59992442	108912271	46358289	75	6100											
CXorf66	347487	hgsc.bcm.edu	37	X	139038424	139038424	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chrX:139038424A>G	ENST00000370540.1	-	3	740	c.717T>C	c.(715-717)ccT>ccC	p.P239P		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	239						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AATGTTTGGGAGGCTTAGCCA	0.433																																																0													163	153	157					X																	139038424		2203	4300	6503	SO:0001819	synonymous_variant	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.717T>C	X.37:g.139038424A>G				Silent	SNP	ENST00000370540.1	37	CCDS35411.1																																																																																				0.433	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		G	139038424	A	G	139038424	2	3	91	1	0	0	0	0	0	0	0	1	4120	291	11	3		3	CXorf66	23	139038424	Silent	SNP	A	TCGA-AK-3425-01A-02D-1361-10	30126153	139038424	16232136	76	6101											
BRDT	676	broad.mit.edu	37	1	92430268	92430268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr1:92430268G>T	ENST00000362005.3	+	4	695	c.277G>T	c.(277-279)Gaa>Taa	p.E93*	BRDT_ENST00000394530.3_Intron|BRDT_ENST00000370389.2_Nonsense_Mutation_p.E20*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.E93*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.E93*	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	93	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GAAGGCTTCAGAATGTATAGA	0.279																																																0													35	38	37					1																	92430268		2189	4277	6466	SO:0001587	stop_gained	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.277G>T	1.37:g.92430268G>T	ENSP00000354568:p.Glu93*		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Nonsense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489616	0.84962	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000440509;ENST00000427104;ENST00000448194;ENST00000426141;ENST00000450792;ENST00000548992;ENST00000552654;ENST00000402388	.	.	.	5.43	4.52	0.55395	.	0.074758	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.3072	13.9878	0.64345	0.074:0.0:0.926:0.0	.	.	.	.	X	93;20;93;93;93;93;93;93;93;93;93;20;93	.	ENSP00000354568:E93X	E	+	1	0	BRDT	92202856	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.362000	0.66098	1.316000	0.45131	0.650000	0.86243	GAA		0.279	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		T	92430268	G	T	92430268	4	4	92	1	0	0	0	0	0	1	0	0	1510	943	33	4	283	4	BRDT	1	92430268	Nonsense_Mutation	SNP	G	TCGA-AK-3427-01A-01D-0966-08		92430268	156820353	1	6102											
IL1RL2	8808	broad.mit.edu	37	2	102849529	102849529	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:102849529G>C	ENST00000264257.2	+	10	1368	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	IL1RL2_ENST00000441515.2_Missense_Mutation_p.E296D|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E414D	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	414	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTGTTGGAGAGACAATGTG	0.448																																																0													118	113	115					2																	102849529		2203	4300	6503	SO:0001583	missense	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1242G>C	2.37:g.102849529G>C	ENSP00000264257:p.Glu414Asp		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102729	0.56183	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.10005	2.92;2.92;2.92	6.07	5.2	0.72013	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.106321	0.64402	D	0.000007	T	0.38639	0.1048	M	0.91196	3.185	0.41327	D	0.987213	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.44221	-0.9342	10	0.87932	D	0	.	9.3919	0.38378	0.2223:0.0:0.7777:0.0	.	296;414	A4FU63;Q9HB29	.;ILRL2_HUMAN	D	414;296;414	ENSP00000264257:E414D;ENSP00000413348:E296D;ENSP00000442184:E414D	ENSP00000264257:E414D	E	+	3	2	IL1RL2	102215961	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	2.498000	0.45363	1.587000	0.49959	-0.136000	0.14681	GAG		0.448	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		C	102849529	G	C	102849529	3	2	92	1	0	0	0	0	1	0	0	0	7666	933	33	4	1276	4	IL1RL2	2	102849529	Missense_Mutation	SNP	G	TCGA-AK-3427-01A-01D-0966-08		102849529	140349844	2	6103											
CKAP2L	150468	broad.mit.edu	37	2	113514753	113514755	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:113514753_113514755delAAC	ENST00000302450.6	-	4	271_273	c.193_195delGTT	c.(193-195)gttdel	p.V65del	CKAP2L_ENST00000481732.1_Intron|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	65						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGACAGGCAAAACAACATGGTTG	0.36																																																0																																										SO:0001651	inframe_deletion	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.193_195delGTT	2.37:g.113514756_113514758delAAC	ENSP00000305204:p.Val65del		A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	In_Frame_Del	DEL	ENST00000302450.6	37	CCDS2100.1																																																																																				0.36	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		-	113514755	AAC	-	113514753	7	5	92	1	0	1	0	1	0	0	0	0	3445	1	1	0	2066	0	CKAP2L	2	113514753	In_Frame_Del	DEL	AAC	TCGA-AK-3427-01A-01D-0966-08	10665224	113514753	129684620	3	6104											
SPHKAP	80309	broad.mit.edu	37	2	228883378	228883378	+	Missense_Mutation	SNP	C	C	T	rs371619496		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:228883378C>T	ENST00000392056.3	-	7	2238	c.2192G>A	c.(2191-2193)gGt>gAt	p.G731D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G731D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	731						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGACATTCACCAAGCCGTAC	0.443																																																0								C	ASP/GLY,ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	166	151	156		2192,2192	4.7	0	2		156	0,8600		0,0,4300	no	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	94,94	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	731/1701,731/1672	228883378	1,13005	2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2192G>A	2.37:g.228883378C>T	ENSP00000375909:p.Gly731Asp		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	2.27E-4	0.0	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11821	2.74;2.74	5.61	4.73	0.59995	.	0.384553	0.31897	N	0.006889	T	0.16854	0.0405	M	0.61703	1.905	0.09310	N	1	P;B	0.49635	0.926;0.441	P;B	0.44597	0.454;0.185	T	0.13229	-1.0517	10	0.25751	T	0.34	.	10.4997	0.44798	0.0:0.8349:0.0:0.1651	.	731;731	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	D	731	ENSP00000375909:G731D;ENSP00000339886:G731D	ENSP00000339886:G731D	G	-	2	0	SPHKAP	228591622	0.001000	0.12720	0.004000	0.12327	0.072000	0.16883	1.500000	0.35682	1.506000	0.48736	0.655000	0.94253	GGT		0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228883378	C	T	228883378	3	4	92	1	0	0	0	0	1	0	0	0	15053	507	18	2	2934	2	SPHKAP	2	228883378	Missense_Mutation	SNP	C	TCGA-AK-3427-01A-01D-0966-08	115368625	228883378	14315995	4	6105											
CAPN10	11132	broad.mit.edu	37	2	241534490	241534490	+	Silent	SNP	C	C	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr2:241534490C>A	ENST00000391984.2	+	7	1243	c.1047C>A	c.(1045-1047)ggC>ggA	p.G349G	CAPN10_ENST00000404753.3_Silent_p.G349G|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Silent_p.G349G|CAPN10_ENST00000354082.4_Silent_p.G349G|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	349	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGTCAAGGGCCAGTCAGCAG	0.632																																																0													52	58	56					2																	241534490		2203	4300	6503	SO:0001819	synonymous_variant	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1047C>A	2.37:g.241534490C>A			A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	CCDS42838.1																																																																																				0.632	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		A	241534490	C	A	241534490	2	1	92	1	0	0	0	0	0	0	0	1	2625	726	26	4		4	CAPN10	2	241534490	Silent	SNP	C	TCGA-AK-3427-01A-01D-0966-08	12651112	241534490	1664883	5	6106											
TRNT1	51095	broad.mit.edu	37	3	3170805	3170805	+	Silent	SNP	A	A	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr3:3170805A>T	ENST00000251607.6	+	2	183	c.81A>T	c.(79-81)ctA>ctT	p.L27L	TRNT1_ENST00000402675.1_Silent_p.L27L|TRNT1_ENST00000420393.1_Silent_p.L27L|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000339437.6_Silent_p.L27L|TRNT1_ENST00000280591.6_Silent_p.L27L	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	27					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGCAGTATCTATTCACAATGA	0.488																																																0													115	102	107					3																	3170805		2203	4300	6503	SO:0001819	synonymous_variant	51095			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.81A>T	3.37:g.3170805A>T			A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	CCDS2561.2																																																																																				0.488	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			T	3170805	A	T	3170805	2	4	92	1	0	0	0	0	0	0	0	1	16578	436	16	5		5	TRNT1	3	3170805	Silent	SNP	A	TCGA-AK-3427-01A-01D-0966-08		3170805	194851625	6	6107											
SFRP2	6423	broad.mit.edu	37	4	154702608	154702608	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr4:154702608A>C	ENST00000274063.4	-	3	1167	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	295	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CGGGACTAGCACTGCAGCTTG	0.617																																																0													76	69	71					4																	154702608		2203	4300	6503	SO:0001583	missense	6423			AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.883T>G	4.37:g.154702608A>C	ENSP00000274063:p.Cys295Gly		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754815	0.69648	.	.	ENSG00000145423	ENST00000274063	D	0.84146	-1.81	5.95	5.95	0.96441	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92900	0.6338	10	0.87932	D	0	.	16.4025	0.83647	1.0:0.0:0.0:0.0	.	295	Q96HF1	SFRP2_HUMAN	G	295	ENSP00000274063:C295G	ENSP00000274063:C295G	C	-	1	0	SFRP2	154922058	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.513000	0.90542	2.268000	0.75426	0.533000	0.62120	TGC		0.617	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			C	154702608	A	C	154702608	3	2	92	1	0	0	0	0	1	0	0	0	14168	159	6	5	8	5	SFRP2	4	154702608	Missense_Mutation	SNP	A	TCGA-AK-3427-01A-01D-0966-08		154702608	36451668	7	6108											
PCDHB16	57717	broad.mit.edu	37	5	140563385	140563386	+	Frame_Shift_Ins	INS	-	-	A	rs115003049|rs199980560	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr5:140563385_140563386insA	ENST00000361016.2	+	1	2406_2407	c.1251_1252insA	c.(1252-1254)aatfs	p.N418fs		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGAATATAATATCACCCT	0.455																																																0																																										SO:0001589	frameshift_variant	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1253dupA	5.37:g.140563387_140563387dupA	ENSP00000354293:p.Asn418fs		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Frame_Shift_Ins	INS	ENST00000361016.2	37	CCDS4251.1																																																																																				0.455	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		A	140563386	-	A	140563385	7	5	92	1	0	1	1	0	0	0	0	0	11543	1413	49	0	1253	0	PCDHB16	5	140563385	Frame_Shift_Ins	INS	-	TCGA-AK-3427-01A-01D-0966-08		140563385	40351875	8	6109											
ZNF12	7559	broad.mit.edu	37	7	6731556	6731556	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:6731556G>T	ENST00000405858.1	-	5	1558	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	ZNF12_ENST00000404360.1_Missense_Mutation_p.H265Q|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.H301Q|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	339					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTGAATGAGGTGTAACTTCT	0.443																																																0													63	68	66					7																	6731556		2196	4299	6495	SO:0001583	missense	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1017C>A	7.37:g.6731556G>T	ENSP00000385939:p.His339Gln		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622278	0.28889	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.28454	1.61;1.61;1.61	4.03	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000352	T	0.29288	0.0729	N	0.16478	0.41	0.30000	N	0.816085	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.977	T	0.18335	-1.0340	10	0.09338	T	0.73	.	8.2228	0.31552	0.2733:0.0:0.7267:0.0	.	339;301	P17014;P17014-5	ZNF12_HUMAN;.	Q	265;339;301;397;303	ENSP00000384405:H265Q;ENSP00000385939:H339Q;ENSP00000344745:H301Q	ENSP00000331039:H303Q	H	-	3	2	ZNF12	6698081	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.025000	0.13577	0.273000	0.22049	0.563000	0.77884	CAC		0.443	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		T	6731556	G	T	6731556	3	4	92	1	0	0	0	0	1	0	0	0	17723	1252	44	4	1080	4	ZNF12	7	6731556	Missense_Mutation	SNP	G	TCGA-AK-3427-01A-01D-0966-08		6731556	152407107	9	6110											
AUTS2	26053	broad.mit.edu	37	7	70255667	70255667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:70255667G>T	ENST00000342771.4	+	19	3786	c.3465G>T	c.(3463-3465)ttG>ttT	p.L1155F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L1131F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1155	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGAGCGCTTGCACATGCTCA	0.692																																																0													38	43	41					7																	70255667		2203	4299	6502	SO:0001583	missense	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3465G>T	7.37:g.70255667G>T	ENSP00000344087:p.Leu1155Phe		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513129	0.64522	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.44482	0.97;0.92	4.62	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.53997	0.1831	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.51220	-0.8733	9	.	.	.	-16.9882	7.7553	0.28921	0.0817:0.0:0.7548:0.1636	.	607;1131;1155	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	F	1131;1155	ENSP00000385263:L1131F;ENSP00000344087:L1155F	.	L	+	3	2	AUTS2	69893603	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.310000	0.51911	1.144000	0.42321	0.655000	0.94253	TTG		0.692	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			T	70255667	G	T	70255667	3	4	92	1	0	0	0	0	1	0	0	0	1225	1310	46	4	3684	4	AUTS2	7	70255667	Missense_Mutation	SNP	G	TCGA-AK-3427-01A-01D-0966-08	63524111	70255667	88882996	10	6111											
MUC17	140453	broad.mit.edu	37	7	100686235	100686235	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:100686235G>T	ENST00000306151.4	+	3	11602	c.11538G>T	c.(11536-11538)ttG>ttT	p.L3846F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3846					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTTTGCTCACCTCTA	0.463																																																0													128	114	119					7																	100686235		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11538G>T	7.37:g.100686235G>T	ENSP00000302716:p.Leu3846Phe		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	9.834	1.189161	0.21954	.	.	ENSG00000169876	ENST00000306151	T	0.03580	3.88	1.55	-1.45	0.08828	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.58577	0.841	T	0.40997	-0.9533	9	0.26408	T	0.33	.	1.9845	0.03433	0.2308:0.0:0.464:0.3052	.	3846	Q685J3	MUC17_HUMAN	F	3846	ENSP00000302716:L3846F	ENSP00000302716:L3846F	L	+	3	2	MUC17	100472955	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-2.578000	0.00908	-0.020000	0.14032	0.187000	0.17357	TTG		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100686235	G	T	100686235	3	4	92	1	0	0	0	0	1	0	0	0	9976	1310	46	4	11548	4	MUC17	7	100686235	Missense_Mutation	SNP	G	TCGA-AK-3427-01A-01D-0966-08	30430568	100686235	58452428	11	6112											
LAMB1	3912	broad.mit.edu	37	7	107592482	107592482	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr7:107592482G>C	ENST00000222399.6	-	23	3496	c.3266C>G	c.(3265-3267)gCt>gGt	p.A1089G	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1113G	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1089	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GAAGGAATGAGCAGCATTGCA	0.567																																																0													57	42	47					7																	107592482		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3266C>G	7.37:g.107592482G>C	ENSP00000222399:p.Ala1089Gly		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	7.089	0.571707	0.13623	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.62105	0.05;0.05	4.93	0.837	0.18896	EGF-like, laminin (3);	.	.	.	.	T	0.51075	0.1653	L	0.50919	1.6	0.18873	N	0.999988	B;B	0.23650	0.04;0.089	B;B	0.26969	0.063;0.075	T	0.38200	-0.9672	9	0.23891	T	0.37	.	6.4453	0.21873	0.1399:0.0:0.3551:0.505	.	1089;1113	P07942;G3XAI2	LAMB1_HUMAN;.	G	1113;1089	ENSP00000377191:A1113G;ENSP00000222399:A1089G	ENSP00000222399:A1089G	A	-	2	0	LAMB1	107379718	0.000000	0.05858	0.002000	0.10522	0.437000	0.31866	0.727000	0.25999	0.036000	0.15547	-0.274000	0.10170	GCT		0.567	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		C	107592482	G	C	107592482	3	2	92	1	0	0	0	0	1	0	0	0	8612	971	34	4	2142	4	LAMB1	7	107592482	Missense_Mutation	SNP	G	TCGA-AK-3427-01A-01D-0966-08	6906247	107592482	51546181	12	6113											
PFKP	5214	broad.mit.edu	37	10	3172134	3172134	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:3172134G>A	ENST00000381125.4	+	17	1883	c.1807G>A	c.(1807-1809)Gca>Aca	p.A603T	PFKP_ENST00000381072.1_Missense_Mutation_p.A21T|PFKP_ENST00000381075.2_Missense_Mutation_p.A595T	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	603	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGCTGATGCCGCATACATTTT	0.647																																																0													46	43	44					10																	3172134		2203	4300	6503	SO:0001583	missense	5214			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1807G>A	10.37:g.3172134G>A	ENSP00000370517:p.Ala603Thr		B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	17.71	3.457754	0.63401	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.80566	-1.39;-1.39;-1.39	4.33	4.33	0.51752	Phosphofructokinase domain (2);	0.057901	0.64402	D	0.000002	D	0.88695	0.6506	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.979;0.943	D	0.90535	0.4498	10	0.87932	D	0	.	16.8328	0.85949	0.0:0.0:1.0:0.0	.	595;595;603	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	T	603;592;595;21	ENSP00000370517:A603T;ENSP00000370465:A595T;ENSP00000370462:A21T	ENSP00000370462:A21T	A	+	1	0	PFKP	3162134	1.000000	0.71417	0.312000	0.25196	0.001000	0.01503	9.605000	0.98321	1.958000	0.56883	0.462000	0.41574	GCA		0.647	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		A	3172134	G	A	3172134	3	1	92	1	0	0	0	0	1	0	0	0	11768	1087	38	1	1873	1	PFKP	10	3172134	Missense_Mutation	SNP	G	TCGA-AK-3427-01A-01D-0966-08		3172134	132362613	13	6114											
FAM35A	54537	broad.mit.edu	37	10	88946959	88946959	+	Splice_Site	SNP	T	T	G			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:88946959T>G	ENST00000298784.1	+	8	2422		c.e8+2		FAM35A_ENST00000298786.4_Splice_Site	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A											endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GAGTGATAGGTAATATATCAG	0.368																																					Ovarian(175;703 2004 25460 32514 43441)											0													85	73	77					10																	88946959		2203	4297	6500	SO:0001630	splice_region_variant	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2308+2T>G	10.37:g.88946959T>G			O95885|Q9H991	Splice_Site	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.582282	0.65992	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313;ENST00000342900	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8271	0.52273	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM35A	88936939	1.000000	0.71417	0.717000	0.30585	0.640000	0.38277	4.875000	0.63072	1.447000	0.47661	0.163000	0.16589	.		0.368	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054	Intron	G	88946959	T	G	88946959	5	3	92	1	0	0	0	0	0	0	1	0	5555	1652	57	5	2332	5	FAM35A	10	88946959	Splice_Site	SNP	T	TCGA-AK-3427-01A-01D-0966-08	85774825	88946959	46587788	14	6115											
PTEN	5728	broad.mit.edu	37	10	89720860	89720860	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:89720860T>A	ENST00000371953.3	+	8	2368	c.1011T>A	c.(1009-1011)ttT>ttA	p.F337L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	337	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.F337fs*6(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCGATACTTTTCTCCAAATT	0.338		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	55	Whole gene deletion(37)|Deletion - Frameshift(13)|Deletion - In frame(3)|Unknown(2)	prostate(16)|central_nervous_system(14)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											52	55	54					10																	89720860		2203	4299	6502	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1011T>A	10.37:g.89720860T>A	ENSP00000361021:p.Phe337Leu		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306212	0.81247	.	.	ENSG00000171862	ENST00000371953	D	0.86769	-2.17	5.37	1.83	0.25207	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90820	0.7117	M	0.73962	2.25	0.58432	D	0.999999	D	0.71674	0.998	D	0.67103	0.949	D	0.88493	0.3077	9	.	.	.	0.0365	8.9952	0.36048	0.0:0.3848:0.0:0.6152	.	337	P60484	PTEN_HUMAN	L	337	ENSP00000361021:F337L	.	F	+	3	2	PTEN	89710840	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.461000	0.21940	0.366000	0.24427	-0.353000	0.07706	TTT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89720860	T	A	89720860	3	1	92	1	0	0	0	0	1	0	0	0	12743	1838	64	5	1041	5	PTEN	10	89720860	Missense_Mutation	SNP	T	TCGA-AK-3427-01A-01D-0966-08	773901	89720860	45813887	15	6116											
TDRD1	56165	broad.mit.edu	37	10	115973808	115973808	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr10:115973808T>C	ENST00000369280.1	+	16	2607	c.2147T>C	c.(2146-2148)gTa>gCa	p.V716A	TDRD1_ENST00000369282.1_Missense_Mutation_p.V716A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V659A|TDRD1_ENST00000251864.2_Missense_Mutation_p.V716A|TDRD1_ENST00000422662.1_Missense_Mutation_p.V320A			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	716					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GACCAAACAGTAGATGTTGTG	0.363																																																0													279	257	265					10																	115973808		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2147T>C	10.37:g.115973808T>C	ENSP00000358286:p.Val716Ala		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	T	17.70	3.454608	0.63290	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	5.47	5.47	0.80525	Maternal tudor protein (1);	0.367476	0.28279	N	0.015929	T	0.32912	0.0845	M	0.85777	2.775	0.09310	N	0.999993	D;D;D;D;P	0.58268	0.967;0.982;0.977;0.977;0.95	P;P;P;P;P	0.61275	0.886;0.772;0.741;0.641;0.631	T	0.26052	-1.0114	10	0.40728	T	0.16	-9.4495	13.2856	0.60241	0.0:0.0:0.0:1.0	.	320;716;659;716;659	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	A	716;716;659;320;716	ENSP00000358288:V716A;ENSP00000251864:V716A;ENSP00000358287:V659A;ENSP00000402794:V320A;ENSP00000358286:V716A	ENSP00000251864:V716A	V	+	2	0	TDRD1	115963798	0.965000	0.33210	0.529000	0.27951	0.937000	0.57800	4.046000	0.57376	2.063000	0.61619	0.460000	0.39030	GTA		0.363	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			C	115973808	T	C	115973808	3	2	92	1	0	0	0	0	1	0	0	0	15735	1638	57	3	2205	3	TDRD1	10	115973808	Missense_Mutation	SNP	T	TCGA-AK-3427-01A-01D-0966-08	26252948	115973808	19560939	16	6117											
CHST1	8534	broad.mit.edu	37	11	45671742	45671742	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:45671742G>T	ENST00000308064.2	-	4	1402	c.732C>A	c.(730-732)agC>agA	p.S244R	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	244					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAAGGTCTCGCTGCGCGAAG	0.657																																																0													57	53	54					11																	45671742		2203	4299	6502	SO:0001583	missense	8534			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.732C>A	11.37:g.45671742G>T	ENSP00000309270:p.Ser244Arg		D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410234	0.42715	.	.	ENSG00000175264	ENST00000308064	D	0.82619	-1.63	4.98	2.06	0.26882	Sulfotransferase domain (1);	0.147583	0.64402	D	0.000011	T	0.71787	0.3381	N	0.19112	0.55	0.40176	D	0.977238	P	0.47910	0.902	P	0.47402	0.546	T	0.63941	-0.6523	10	0.15952	T	0.53	-8.5739	8.7652	0.34698	0.4721:0.0:0.5279:0.0	.	244	O43916	CHST1_HUMAN	R	244	ENSP00000309270:S244R	ENSP00000309270:S244R	S	-	3	2	CHST1	45628318	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	0.708000	0.25719	0.147000	0.19030	0.462000	0.41574	AGC		0.657	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		T	45671742	G	T	45671742	3	4	92	1	0	0	0	0	1	0	0	0	3399	1078	38	4	507	4	CHST1	11	45671742	Missense_Mutation	SNP	G	TCGA-AK-3427-01A-01D-0966-08		45671742	89334774	17	6118											
SLC22A6	9356	broad.mit.edu	37	11	62744726	62744726	+	Missense_Mutation	SNP	C	C	T	rs565938595	byFrequency	TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr11:62744726C>T	ENST00000377871.3	-	9	1761	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A499T|SLC22A6_ENST00000421062.2_Splice_Site_p.A455T|SLC22A6_ENST00000458333.2_Splice_Site_p.A455T	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	499					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACAGTGACAGCGCTGGCGGCC	0.637													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15785	0.0		0.0	False		,,,				2504	0.0															0													75	71	72					11																	62744726		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1495G>A	11.37:g.62744726C>T	ENSP00000367102:p.Ala499Thr		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	5.764	0.325294	0.10900	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.73258	-0.73;-0.73;0.09;0.09	4.48	1.62	0.23740	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.508642	0.22012	N	0.065853	T	0.64338	0.2589	M	0.73430	2.235	0.09310	N	1	B;B;B;B	0.21688	0.021;0.012;0.059;0.027	B;B;B;B	0.16289	0.014;0.009;0.015;0.009	T	0.52480	-0.8570	10	0.28530	T	0.3	.	7.7515	0.28901	0.0:0.7191:0.0:0.2809	.	455;455;499;499	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	T	499;478;499;455;455	ENSP00000353597:A499T;ENSP00000367102:A499T;ENSP00000396401:A455T;ENSP00000404441:A455T	ENSP00000353597:A499T	A	-	1	0	SLC22A6	62501302	0.000000	0.05858	0.029000	0.17559	0.168000	0.22595	-0.191000	0.09601	0.163000	0.19507	-0.258000	0.10820	GCT		0.637	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		T	62744726	C	T	62744726	3	4	92	1	0	0	0	0	1	0	0	0	14464	782	27	1	204	1	SLC22A6	11	62744726	Missense_Mutation	SNP	C	TCGA-AK-3427-01A-01D-0966-08	17072984	62744726	72261790	18	6119											
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000535923.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																																0										3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436			U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC				RNA	INS	ENST00000261406.6	37																																																																																					0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	C	7080213	-	C	7080212	8	5	92	1	0	1	1	0	0	0	1	0	5092	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-AK-3427-01A-01D-0966-08		7080212	126771683	19	6120											
FGD6	55785	broad.mit.edu	37	12	95535270	95535270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr12:95535270G>T	ENST00000343958.4	-	6	2954	c.2731C>A	c.(2731-2733)Cca>Aca	p.P911T	FGD6_ENST00000549499.1_Missense_Mutation_p.P911T|FGD6_ENST00000546711.1_Missense_Mutation_p.P911T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	911	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCAATCACTGGTTTCCCAAGT	0.443																																																0													118	107	111					12																	95535270		2203	4300	6503	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2731C>A	12.37:g.95535270G>T	ENSP00000344446:p.Pro911Thr		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709621	0.68730	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.62941	-0.01;-0.01;-0.01	5.66	3.79	0.43588	Dbl homology (DH) domain (5);	0.147341	0.31797	N	0.007055	T	0.77685	0.4167	M	0.76002	2.32	0.53688	D	0.999978	D	0.71674	0.998	D	0.67382	0.951	T	0.80663	-0.1282	10	0.87932	D	0	-4.419	15.9087	0.79450	0.0:0.2764:0.7236:0.0	.	911	Q6ZV73	FGD6_HUMAN	T	911	ENSP00000344446:P911T;ENSP00000450342:P911T;ENSP00000449005:P911T	ENSP00000344446:P911T	P	-	1	0	FGD6	94059401	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.328000	0.59253	0.686000	0.31488	0.563000	0.77884	CCA		0.443	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		T	95535270	G	T	95535270	3	4	92	1	0	0	0	0	1	0	0	0	5839	1261	44	4	1625	4	FGD6	12	95535270	Missense_Mutation	SNP	G	TCGA-AK-3427-01A-01D-0966-08	88455058	95535270	38316625	20	6121											
SYNJ2BP	55333	broad.mit.edu	37	14	70855304	70855304	+	Silent	SNP	G	G	A			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:70855304G>A	ENST00000256366.4	-	2	165	c.84C>T	c.(82-84)gtC>gtT	p.V28V	SYNJ2BP-COX16_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_Intron	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	28	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTGTCCCACCGACGATGTTGA	0.522																																																0													56	54	55					14																	70855304		2203	4300	6503	SO:0001819	synonymous_variant	55333			AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"activin receptor interacting protein 5"	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.84C>T	14.37:g.70855304G>A			Q49SH3|Q96IA4	Silent	SNP	ENST00000256366.4	37	CCDS9803.1																																																																																				0.522	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		A	70855304	G	A	70855304	2	1	92	1	0	0	0	0	0	0	0	1	15459	1045	37	1		1	SYNJ2BP	14	70855304	Silent	SNP	G	TCGA-AK-3427-01A-01D-0966-08		70855304	36494236	21	6122											
FLRT2	23768	broad.mit.edu	37	14	86088696	86088696	+	Silent	SNP	C	C	A	rs148371022		TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	9e4da18c-4db7-424b-bdda-f4135cc43dfd	g.chr14:86088696C>A	ENST00000330753.4	+	2	1605	c.838C>A	c.(838-840)Cgg>Agg	p.R280R	FLRT2_ENST00000554746.1_Silent_p.R280R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAAGCTGGAACGGCTGGATAT	0.483																																																0													161	164	163					14																	86088696		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.838C>A	14.37:g.86088696C>A			A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.483	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			A	86088696	C	A	86088696	2	1	92	1	0	0	0	0	0	0	0	1	5941	527	19	4		4	FLRT2	14	86088696	Silent	SNP	C	TCGA-AK-3427-01A-01D-0966-08	15233392	86088696	21260844	22	6123											
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																																0																																										SO:0001651	inframe_deletion	51393			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del		A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		-	16335492	TGC	-	16335490	7	5	92	1	0	1	0	1	0	0	0	0	16601	1696	59	0	1907	0	TRPV2	17	16335490	In_Frame_Del	DEL	TGC	TCGA-AK-3427-01A-01D-0966-08		16335490	64859720	23	6124											
OLFM2	93145	broad.mit.edu	37	19	9965171	9965171	+	Silent	SNP	C	C	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr19:9965171C>T	ENST00000264833.4	-	6	1241	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	OLFM2_ENST00000590841.1_Silent_p.P274P|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	352	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.P352P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGGTGTGCGGGTCCAGCC	0.642																																																1	Substitution - coding silent(1)	lung(1)											71	67	69					19																	9965171		2203	4300	6503	SO:0001819	synonymous_variant	93145			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1056G>A	19.37:g.9965171C>T			Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	CCDS12221.1																																																																																				0.642	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			T	9965171	C	T	9965171	2	4	92	1	0	0	0	0	0	0	0	1	10855	755	27	1		1	OLFM2	19	9965171	Silent	SNP	C	TCGA-AK-3427-01A-01D-0966-08		9965171	49163812	24	6125											
HSPA12B	116835	broad.mit.edu	37	20	3726646	3726646	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3427-01A-01D-0966-08	TCGA-AK-3427-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e82dec65-35c3-47c4-b569-f7c39720a474	268e24ba-3b04-4f38-b63e-927ff8bc62d3	g.chr20:3726646G>T	ENST00000254963.2	+	7	788	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	HSPA12B_ENST00000542646.1_Missense_Mutation_p.A49S	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	215							ATP binding (GO:0005524)	p.A215S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GAAACAGCCAGCCAAGCAGTT	0.642																																																1	Substitution - Missense(1)	kidney(1)											72	59	64					20																	3726646		2203	4300	6503	SO:0001583	missense	116835			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.643G>T	20.37:g.3726646G>T	ENSP00000254963:p.Ala215Ser		D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	G	36	5.652694	0.96724	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.04360	3.64;3.64;3.64	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.81914	0.966;0.995	T	0.00064	-1.2151	10	0.56958	D	0.05	-11.6847	16.444	0.83910	0.0:0.0:1.0:0.0	.	214;215	B7ZLP2;Q96MM6	.;HS12B_HUMAN	S	215;49;129	ENSP00000254963:A215S;ENSP00000441506:A49S;ENSP00000382608:A129S	ENSP00000254963:A215S	A	+	1	0	HSPA12B	3674646	1.000000	0.71417	0.960000	0.40013	0.977000	0.68977	9.124000	0.94394	2.755000	0.94549	0.655000	0.94253	GCC		0.642	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		T	3726646	G	T	3726646	3	4	92	1	0	0	0	0	1	0	0	0	7407	971	34	4	665	4	HSPA12B	20	3726646	Missense_Mutation	SNP	G	TCGA-AK-3427-01A-01D-0966-08		3726646	59298874	25	6126											
KIAA1751	85452	hgsc.bcm.edu	37	1	1897857	1897857	+	IGR	SNP	C	C	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:1897857C>A								TMEM52 (47145 upstream) : C1orf222 (21705 downstream)																							ATCTCGGGCTCAGCTAACGTT	0.612																																																0													49	56	54					1																	1897857		1940	4121	6061	SO:0001628	intergenic_variant	85452																															1.37:g.1897857C>A				Nonsense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	c	19.91	3.915037	0.72983	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.87	-1.64	0.08318	.	0.501859	0.19066	N	0.123629	.	.	.	.	.	.	0.20074	N	0.999932	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-4.8261	0.9991	0.01473	0.1436:0.2924:0.2824:0.2816	.	.	.	.	X	452	.	ENSP00000270720:E452X	E	-	1	0	C1orf222	1887717	0.000000	0.05858	0.005000	0.12908	0.223000	0.24884	-0.565000	0.05929	-0.478000	0.06823	0.457000	0.33378	GAG	0	0.612									A	1897857	C	A	1897857	1	1	93	0	1	0	0	0	0	0	0	0	8258	835	29	4		4	KIAA1751	1	1897857	IGR	SNP	C	TCGA-AK-3428-01A-02D-1361-10		1897857	247352764	1	6127											
PADI2	11240	hgsc.bcm.edu;ucsc.edu	37	1	17396596	17396596	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:17396596A>C	ENST00000375486.4	-	15	1814	c.1751T>G	c.(1750-1752)tTc>tGc	p.F584C	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.F468C	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	584					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GTTTGGGAAGAAGGCTCTGGC	0.587																																																0													113	91	99					1																	17396596		2203	4300	6503	SO:0001583	missense	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1751T>G	1.37:g.17396596A>C	ENSP00000364635:p.Phe584Cys		Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	CCDS177.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.672295	0.67928	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.31769	1.48;1.48	4.74	-3.02	0.05446	Protein-arginine deiminase, C-terminal (1);	0.644721	0.17000	N	0.190930	T	0.51346	0.1669	M	0.79926	2.475	0.28733	N	0.902398	D;D	0.89917	1.0;0.967	D;P	0.79784	0.993;0.828	T	0.53194	-0.8473	10	0.87932	D	0	-11.9227	12.1099	0.53834	0.3355:0.0:0.0:0.6645	.	468;584	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	C	584;468	ENSP00000364635:F584C;ENSP00000405894:F468C	ENSP00000364635:F584C	F	-	2	0	PADI2	17269183	0.943000	0.32029	0.992000	0.48379	0.978000	0.69477	0.007000	0.13174	-0.265000	0.09352	0.460000	0.39030	TTC		0.587	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			C	17396596	A	C	17396596	3	2	93	1	0	0	0	0	1	0	0	0	11380	246	9	5	254	5	PADI2	1	17396596	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10	15498739	17396596	231854025	2	6128											
MECR	51102	hgsc.bcm.edu	37	1	29528533	29528533	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:29528533G>C	ENST00000263702.6	-	6	703	c.678C>G	c.(676-678)gaC>gaG	p.D226E	MECR_ENST00000489248.1_5'Flank|MECR_ENST00000373791.3_Missense_Mutation_p.D150E			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	226					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TCTTCAGTCTGTCACTCAGCT	0.502																																																0													192	195	194					1																	29528533		2203	4300	6503	SO:0001583	missense	51102				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.678C>G	1.37:g.29528533G>C	ENSP00000263702:p.Asp226Glu		B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634199	0.29068	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792;ENST00000453185	T;T	0.03496	3.91;3.91	5.75	2.78	0.32641	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.401640	0.31177	N	0.008108	T	0.02418	0.0074	N	0.20685	0.6	0.40099	D	0.976344	B	0.02656	0.0	B	0.04013	0.001	T	0.47873	-0.9083	10	0.10111	T	0.7	.	9.4496	0.38719	0.0752:0.2709:0.6539:0.0	.	226	Q9BV79	MECR_HUMAN	E	150;226;138;65	ENSP00000362896:D150E;ENSP00000263702:D226E	ENSP00000263702:D226E	D	-	3	2	MECR	29401120	0.986000	0.35501	0.897000	0.35233	0.690000	0.40134	0.189000	0.17037	0.314000	0.23086	0.561000	0.74099	GAC		0.502	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		C	29528533	G	C	29528533	3	2	93	1	0	0	0	0	1	0	0	0	9426	1368	48	4	463	4	MECR	1	29528533	Missense_Mutation	SNP	G	TCGA-AK-3428-01A-02D-1361-10	12131937	29528533	219722088	3	6129											
ZMYM1	79830	hgsc.bcm.edu	37	1	35570190	35570190	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:35570190A>C	ENST00000373330.1	+	7	801	c.627A>C	c.(625-627)aaA>aaC	p.K209N	ZMYM1_ENST00000359858.4_Missense_Mutation_p.K209N|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	209						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAATGTGAAACATAATCTTT	0.343																																																0													64	59	61					1																	35570190		1996	4191	6187	SO:0001583	missense	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.627A>C	1.37:g.35570190A>C	ENSP00000362427:p.Lys209Asn		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	A	5.896	0.349423	0.11182	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	T;T;T;T	0.17691	2.26;2.54;2.28;2.54	4.45	-4.48	0.03515	TRASH (1);	0.000000	0.49305	D	0.000142	T	0.08358	0.0208	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.25363	-1.0134	10	0.20519	T	0.43	-9.4092	0.8834	0.01239	0.2533:0.2952:0.2528:0.1986	.	209;209	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	N	209;209;134;209	ENSP00000394233:K209N;ENSP00000352920:K209N;ENSP00000362426:K134N;ENSP00000362427:K209N	ENSP00000352920:K209N	K	+	3	2	ZMYM1	35342777	0.016000	0.18221	0.002000	0.10522	0.544000	0.35116	-0.787000	0.04618	-0.574000	0.05990	-0.301000	0.09380	AAA		0.343	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		C	35570190	A	C	35570190	3	2	93	1	0	0	0	0	1	0	0	0	17704	40	2	5	645	5	ZMYM1	1	35570190	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10	6041657	35570190	213680431	4	6130											
EIF2C1	26523	hgsc.bcm.edu	37	1	36372708	36372708	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:36372708A>C	ENST00000373204.4	+	12	1783	c.1570A>C	c.(1570-1572)Acg>Ccg	p.T524P	AGO1_ENST00000373206.1_Missense_Mutation_p.T449P	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	524	Interaction with guide RNA.|Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GCCAGGGAAGACGCCGGTGTA	0.532																																																0													108	88	95					1																	36372708		2203	4300	6503	SO:0001583	missense	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1570A>C	1.37:g.36372708A>C	ENSP00000362300:p.Thr524Pro		Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586438	0.86851	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.31247	1.5;1.5	5.58	5.58	0.84498	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	M	0.83953	2.67	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	T	0.65936	-0.6047	10	0.87932	D	0	-14.6934	15.7578	0.78051	1.0:0.0:0.0:0.0	.	524	Q9UL18	AGO1_HUMAN	P	449;524	ENSP00000362302:T449P;ENSP00000362300:T524P	ENSP00000362300:T524P	T	+	1	0	EIF2C1	36145295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.120000	0.65058	0.528000	0.53228	ACG		0.532	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			C	36372708	A	C	36372708	3	2	93	1	0	0	0	0	1	0	0	0	5007	275	10	5	1616	5	EIF2C1	1	36372708	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10	802518	36372708	212877913	5	6131											
GIPC2	54810	hgsc.bcm.edu	37	1	78601425	78601425	+	Nonstop_Mutation	SNP	T	T	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:78601425T>C	ENST00000370759.3	+	6	1139	c.946T>C	c.(946-948)Tga>Cga	p.*316R		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	0						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						AAGAGGATTATGATGTGTACA	0.398																																																0													115	104	107					1																	78601425		2203	4300	6503	SO:0001578	stop_lost	54810			AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"semaphorin cytoplasmic domain associated protein 2"					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.946T>C	1.37:g.78601425T>C	ENSP00000359795:p.*316Argext*19		Q8IYD3|Q9NXS7	Missense_Mutation	SNP	ENST00000370759.3	37	CCDS685.1	.	.	.	.	.	.	.	.	.	.	T	8.509	0.865964	0.17250	.	.	ENSG00000137960	ENST00000370759	.	.	.	5.53	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0819	0.25235	0.0:0.106:0.1577:0.7363	.	.	.	.	R	316	.	.	X	+	1	0	GIPC2	78374013	0.960000	0.32886	0.013000	0.15412	0.019000	0.09904	1.631000	0.37092	2.237000	0.73441	0.528000	0.53228	TGA		0.398	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655		C	78601425	T	C	78601425	4	2	93	1	0	0	0	0	0	0	0	0	6395	1477	51	3	968	3	GIPC2	1	78601425	Nonstop_Mutation	SNP	T	TCGA-AK-3428-01A-02D-1361-10	42228717	78601425	170649196	6	6132											
GBP5	115362	hgsc.bcm.edu;ucsc.edu	37	1	89732723	89732723	+	Missense_Mutation	SNP	C	C	G	rs376262831		TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:89732723C>G	ENST00000370459.3	-	5	669	c.542G>C	c.(541-543)aGa>aCa	p.R181T	GBP5_ENST00000343435.5_Missense_Mutation_p.R181T|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	181	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GCAGAAATCTCTCAGAGTCCA	0.493																																																0													127	130	129					1																	89732723		2203	4300	6503	SO:0001583	missense	115362			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.542G>C	1.37:g.89732723C>G	ENSP00000359488:p.Arg181Thr		B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547316	0.86022	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	D;D;D	0.84730	-1.89;-1.89;-1.89	4.5	4.5	0.54988	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92782	0.7705	M	0.91818	3.245	0.34948	D	0.751	D	0.89917	1.0	D	0.97110	1.0	D	0.94200	0.7449	10	0.87932	D	0	-15.733	15.2322	0.73401	0.0:1.0:0.0:0.0	.	181	Q96PP8	GBP5_HUMAN	T	181	ENSP00000340396:R181T;ENSP00000359488:R181T;ENSP00000403010:R181T	ENSP00000340396:R181T	R	-	2	0	GBP5	89505311	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.399000	0.66314	2.542000	0.85734	0.449000	0.29647	AGA		0.493	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		G	89732723	C	G	89732723	3	3	93	1	0	0	0	0	1	0	0	0	6279	913	32	4	1246	4	GBP5	1	89732723	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	11131298	89732723	159517898	7	6133											
CCDC18	343099	hgsc.bcm.edu;ucsc.edu	37	1	93672797	93672798	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:93672797_93672798insA	ENST00000343253.7	+	9	1553_1554	c.1051_1052insA	c.(1051-1053)gacfs	p.D351fs	CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.D351fs|CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.D150fs|CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.D469fs|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	351										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGAGAACAAAGACGAAATACTT	0.347																																																0																																										SO:0001589	frameshift_variant	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1052dupA	1.37:g.93672798_93672798dupA	ENSP00000343377:p.Asp351fs		Q6ZU17	Frame_Shift_Ins	INS	ENST00000343253.7	37																																																																																					0.347	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		A	93672798	-	A	93672797	7	5	93	1	0	1	1	0	0	0	0	0	2796	942	33	0	1439	0	CCDC18	1	93672797	Frame_Shift_Ins	INS	-	TCGA-AK-3428-01A-02D-1361-10	3940074	93672797	155577824	8	6134											
SARS	6301	hgsc.bcm.edu;ucsc.edu	37	1	109773533	109773533	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:109773533G>T	ENST00000234677.2	+	5	556	c.481G>T	c.(481-483)Gat>Tat	p.D161Y	SARS_ENST00000369923.4_Missense_Mutation_p.D161Y	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	161					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GATTTGGGGTGATTGTACAGT	0.423																																																0													164	160	161					1																	109773533		2203	4300	6503	SO:0001583	missense	6301			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.481G>T	1.37:g.109773533G>T	ENSP00000234677:p.Asp161Tyr		B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	CCDS795.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852916	0.71719	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.76186	-1.0;-1.0	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.86243	0.5886	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.67231	0.95;0.95;0.95	D	0.88412	0.3022	10	0.87932	D	0	-18.1902	18.7283	0.91724	0.0:0.0:1.0:0.0	.	161;161;161	Q0VGA5;Q5T5C7;P49591	.;.;SYSC_HUMAN	Y	161	ENSP00000234677:D161Y;ENSP00000358939:D161Y	ENSP00000234677:D161Y	D	+	1	0	SARS	109575056	1.000000	0.71417	0.572000	0.28498	0.487000	0.33371	7.415000	0.80131	2.526000	0.85167	0.650000	0.86243	GAT		0.423	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		T	109773533	G	T	109773533	3	4	93	1	0	0	0	0	1	0	0	0	13850	1290	45	4	499	4	SARS	1	109773533	Missense_Mutation	SNP	G	TCGA-AK-3428-01A-02D-1361-10	16100736	109773533	139477088	9	6135											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144906486	144906486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:144906486G>A	ENST00000369354.3	-	18	2560	c.2371C>T	c.(2371-2373)Cag>Tag	p.Q791*	PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.Q791*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q857*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.Q791*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.Q928*|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q791*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.Q578*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q928*|PDE4DIP_ENST00000529945.1_Nonsense_Mutation_p.Q954*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.Q954*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	791					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCTGCACCTGCAGCTCTTCT	0.413			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													102	102	102					1																	144906486		2203	4296	6499	SO:0001587	stop_gained	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2371C>T	1.37:g.144906486G>A	ENSP00000358360:p.Gln791*		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	41	8.534783	0.98852	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.3129	0.90207	0.0:0.0:1.0:0.0	.	.	.	.	X	857;791;791;954;928;928;791;791;954;954;578	.	ENSP00000327209:Q857X	Q	-	1	0	PDE4DIP	143617843	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.776000	0.75023	2.928000	0.99379	0.638000	0.83543	CAG		0.413	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144906486	G	A	144906486	4	1	93	1	0	0	0	0	0	1	0	0	11645	1328	46	2	4787	2	PDE4DIP	1	144906486	Nonsense_Mutation	SNP	G	TCGA-AK-3428-01A-02D-1361-10	35132953	144906486	104344135	10	6136											
TDRKH	11022	hgsc.bcm.edu;ucsc.edu	37	1	151751697	151751697	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:151751697C>T	ENST00000368822.1	-	5	1076	c.443G>A	c.(442-444)cGt>cAt	p.R148H	TDRKH_ENST00000368823.1_Missense_Mutation_p.R144H|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368827.6_Missense_Mutation_p.R148H|TDRKH_ENST00000368824.3_Missense_Mutation_p.R148H|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.R148H			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	148	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGATAGAACGAATTGTCTC	0.403																																																0													114	105	108					1																	151751697		1859	4094	5953	SO:0001583	missense	11022			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.443G>A	1.37:g.151751697C>T	ENSP00000357812:p.Arg148His		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691897	0.88735	.	.	ENSG00000182134	ENST00000368827;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.87	5.87	0.94306	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.053244	0.64402	D	0.000001	T	0.63117	0.2484	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.68758	-0.5324	10	0.72032	D	0.01	-10.3827	18.7883	0.91964	0.0:1.0:0.0:0.0	.	144;148	Q5SZR4;Q9Y2W6	.;TDRKH_HUMAN	H	148;148;144;148;148	ENSP00000357819:R148H;ENSP00000357815:R148H;ENSP00000357813:R144H;ENSP00000357812:R148H;ENSP00000395718:R148H	ENSP00000357812:R148H	R	-	2	0	TDRKH	150018321	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.468000	0.60162	2.770000	0.95276	0.650000	0.86243	CGT		0.403	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		T	151751697	C	T	151751697	3	4	93	1	0	0	0	0	1	0	0	0	15742	536	19	1	1278	1	TDRKH	1	151751697	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	6845211	151751697	97498924	11	6137											
POGK	57645	hgsc.bcm.edu	37	1	166818812	166818812	+	Silent	SNP	G	G	T	rs369140999		TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:166818812G>T	ENST00000367875.1	+	5	1356	c.996G>T	c.(994-996)ccG>ccT	p.P332P	POGK_ENST00000536514.1_Silent_p.P247P|POGK_ENST00000367876.4_Silent_p.P332P|POGK_ENST00000537173.1_Silent_p.P214P			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	332					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AGCACCTGCCGGAAGACCTGA	0.547																																					GBM(76;192 1530 30153 48742)											0													77	80	79					1																	166818812		2203	4300	6503	SO:0001819	synonymous_variant	57645			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.996G>T	1.37:g.166818812G>T			Q5TIJ1|Q8TE07	Silent	SNP	ENST00000367875.1	37	CCDS1254.1																																																																																				0.547	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		T	166818812	G	T	166818812	2	4	93	1	0	0	0	0	0	0	0	1	12187	1103	39	4		4	POGK	1	166818812	Silent	SNP	G	TCGA-AK-3428-01A-02D-1361-10	15067115	166818812	82431809	12	6138											
TAF1A	9015	hgsc.bcm.edu;ucsc.edu	37	1	222736578	222736578	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:222736578C>T	ENST00000352967.4	-	9	1210	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	TAF1A_ENST00000391882.1_Missense_Mutation_p.G227E|TAF1A_ENST00000366890.1_Missense_Mutation_p.G227E|TAF1A_ENST00000350027.4_Missense_Mutation_p.G341E	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	341					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		CTTAGTGCATCCGGCAAAATC	0.333																																																0													77	79	78					1																	222736578		2202	4297	6499	SO:0001583	missense	9015			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1022G>A	1.37:g.222736578C>T	ENSP00000327072:p.Gly341Glu		B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736386	0.89482	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	6.04	6.04	0.98038	.	0.086995	0.85682	D	0.000000	T	0.63236	0.2494	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63422	-0.6641	10	0.59425	D	0.04	-8.2029	17.5116	0.87761	0.0:1.0:0.0:0.0	.	341	Q15573	TAF1A_HUMAN	E	227;341;341;227	ENSP00000355856:G227E;ENSP00000339976:G341E;ENSP00000327072:G341E;ENSP00000375754:G227E	ENSP00000339976:G341E	G	-	2	0	TAF1A	220803201	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.060000	0.64312	2.873000	0.98535	0.563000	0.77884	GGA		0.333	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		T	222736578	C	T	222736578	3	4	93	1	0	0	0	0	1	0	0	0	15524	855	30	2	342	2	TAF1A	1	222736578	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	55917766	222736578	26514043	13	6139											
OR2T27	403239	hgsc.bcm.edu	37	1	248814052	248814052	+	Missense_Mutation	SNP	T	T	A	rs28533004		TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr1:248814052T>A	ENST00000344889.3	-	1	133	c.134A>T	c.(133-135)aAg>aTg	p.K45M		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	45			K -> M (in dbSNP:rs28533004).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGAATGATCTTGACCACGTT	0.517																																																0													51	44	46					1																	248814052		2202	4282	6484	SO:0001583	missense	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.134A>T	1.37:g.248814052T>A	ENSP00000342008:p.Lys45Met			Missense_Mutation	SNP	ENST00000344889.3	37	CCDS31124.1	1246	0.5705128205128205	263	0.5345528455284553	219	0.6049723756906077	318	0.5559440559440559	446	0.5883905013192612	.	0.006	-2.110494	0.00353	.	.	ENSG00000187701	ENST00000344889	T	0.00355	7.91	3.3	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	N	0.000198	T	0.00012	0.0000	N	0.00004	-3.355	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.26608	-1.0098	9	0.02654	T	1	.	8.1814	0.31313	0.8202:0.0:0.0:0.1798	rs28533004	45	Q8NH04	O2T27_HUMAN	M	45	ENSP00000342008:K45M	ENSP00000342008:K45M	K	-	2	0	OR2T27	246880675	0.022000	0.18835	0.828000	0.32881	0.018000	0.09664	2.940000	0.49003	0.470000	0.27294	-1.235000	0.01560	AAG		0.517	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		A	248814052	T	A	248814052	3	1	93	1	0	0	0	0	1	0	0	0	11023	1609	56	5	822	5	OR2T27	1	248814052	Missense_Mutation	SNP	T	TCGA-AK-3428-01A-02D-1361-10	26077474	248814052	436569	14	6140											
SMC6	79677	hgsc.bcm.edu	37	2	17922877	17922877	+	Splice_Site	SNP	A	A	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr2:17922877A>G	ENST00000448223.2	-	4	508		c.e4+1		SMC6_ENST00000402989.1_Splice_Site|SMC6_ENST00000351948.4_Splice_Site|SMC6_ENST00000381272.4_Splice_Site	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6						cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAAACACTTACTTCCATTGT	0.323																																																0													126	126	126					2																	17922877		2203	4300	6503	SO:0001630	splice_region_variant	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.238+1T>C	2.37:g.17922877A>G			A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Splice_Site	SNP	ENST00000448223.2	37	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584755	0.86748	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2952	0.73898	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMC6	17786358	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.842000	0.92136	2.246000	0.74042	0.533000	0.62120	.		0.323	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624	Intron	G	17922877	A	G	17922877	5	3	93	1	0	0	0	0	0	0	1	0	14793	405	14	3	3135	3	SMC6	2	17922877	Splice_Site	SNP	A	TCGA-AK-3428-01A-02D-1361-10		17922877	225276496	15	6141											
HADHB	3032	hgsc.bcm.edu;ucsc.edu	37	2	26505782	26505782	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr2:26505782G>A	ENST00000317799.5	+	11	1107	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	HADHB_ENST00000405867.3_Missense_Mutation_p.A212T|HADHB_ENST00000537713.1_Missense_Mutation_p.A320T|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Missense_Mutation_p.A313T	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	335					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAGCCGAAGGCATATTTGAG	0.358																																																0													113	111	112					2																	26505782		2203	4300	6503	SO:0001583	missense	3032				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.1003G>A	2.37:g.26505782G>A	ENSP00000325136:p.Ala335Thr		B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849717	0.91277	.	.	ENSG00000138029	ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.95	5.95	0.96441	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98811	0.9599	H	0.99619	4.66	0.80722	D	1	D;D;D;D	0.76494	0.998;0.996;0.999;0.999	D;D;D;D	0.85130	0.955;0.954;0.997;0.973	D	0.99187	1.0869	10	0.87932	D	0	-18.0672	18.9662	0.92697	0.0:0.0:1.0:0.0	.	320;313;212;335	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	T	335;212;320;313	ENSP00000325136:A335T;ENSP00000385411:A212T;ENSP00000444295:A320T;ENSP00000442665:A313T	ENSP00000325136:A335T	A	+	1	0	HADHB	26359286	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.478000	0.97927	2.827000	0.97445	0.650000	0.86243	GCA		0.358	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		A	26505782	G	A	26505782	3	1	93	1	0	0	0	0	1	0	0	0	6946	1203	42	2	1041	2	HADHB	2	26505782	Missense_Mutation	SNP	G	TCGA-AK-3428-01A-02D-1361-10	8582905	26505782	216693591	16	6142											
NCAPH	23397	hgsc.bcm.edu;ucsc.edu	37	2	97020027	97020027	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr2:97020027G>A	ENST00000240423.4	+	9	1152	c.1109G>A	c.(1108-1110)gGg>gAg	p.G370E	NCAPH_ENST00000427946.1_Missense_Mutation_p.G234E|NCAPH_ENST00000455200.1_Missense_Mutation_p.G359E	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	370					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGGTCCCTGGGGGATGACTTT	0.532																																																0													161	157	158					2																	97020027		2203	4300	6503	SO:0001583	missense	23397			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1109G>A	2.37:g.97020027G>A	ENSP00000240423:p.Gly370Glu		B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.426320	0.01117	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.44482	0.92;0.93;0.94;0.93	5.27	2.63	0.31362	.	0.366682	0.27720	N	0.018126	T	0.10035	0.0246	N	0.00465	-1.465	0.31159	N	0.704615	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.002;0.002;0.003;0.001	T	0.07927	-1.0747	10	0.29301	T	0.29	-11.4446	1.933	0.03331	0.5806:0.1612:0.0912:0.167	.	346;359;359;370	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	E	370;234;359;359	ENSP00000240423:G370E;ENSP00000400774:G234E;ENSP00000405237:G359E;ENSP00000407308:G359E	ENSP00000240423:G370E	G	+	2	0	NCAPH	96383754	1.000000	0.71417	0.518000	0.27811	0.369000	0.29798	1.332000	0.33805	0.283000	0.22279	-0.459000	0.05422	GGG		0.532	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		A	97020027	G	A	97020027	3	1	93	1	0	0	0	0	1	0	0	0	10211	1232	43	2	1143	2	NCAPH	2	97020027	Missense_Mutation	SNP	G	TCGA-AK-3428-01A-02D-1361-10	70514245	97020027	146179346	17	6143											
UXS1	80146	hgsc.bcm.edu;ucsc.edu	37	2	106729163	106729163	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr2:106729163A>G	ENST00000409501.3	-	10	860	c.803T>C	c.(802-804)aTg>aCg	p.M268T	UXS1_ENST00000540130.1_Missense_Mutation_p.M211T|UXS1_ENST00000428048.2_Missense_Mutation_p.M112T|UXS1_ENST00000409032.1_Missense_Mutation_p.M100T|UXS1_ENST00000283148.7_Missense_Mutation_p.M273T			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	268					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CCCATCGTTCATGTGCATGCG	0.602																																																0													75	77	76					2																	106729163		2102	4228	6330	SO:0001583	missense	80146			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.803T>C	2.37:g.106729163A>G	ENSP00000387019:p.Met268Thr		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.227689	0.39399	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032;ENST00000428048;ENST00000441952;ENST00000416298;ENST00000444193	D;D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.25	5.25	0.73442	NAD-dependent epimerase/dehydratase (1);	0.083046	0.85682	D	0.000000	D	0.87985	0.6316	N	0.11313	0.125	0.80722	D	1	B;P;P	0.36144	0.22;0.483;0.539	B;B;P	0.48166	0.289;0.433;0.569	D	0.85491	0.1185	10	0.16896	T	0.51	.	14.8147	0.70024	1.0:0.0:0.0:0.0	.	112;273;268	B4E3U7;Q8NBZ7-2;Q8NBZ7	.;.;UXS1_HUMAN	T	273;211;268;100;112;112;100;100	ENSP00000283148:M273T;ENSP00000438265:M211T;ENSP00000387019:M268T;ENSP00000387096:M100T;ENSP00000394334:M112T;ENSP00000416656:M112T;ENSP00000403612:M100T;ENSP00000404468:M100T	ENSP00000283148:M273T	M	-	2	0	UXS1	106095595	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.035000	0.88872	1.985000	0.57927	0.459000	0.35465	ATG		0.602	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		G	106729163	A	G	106729163	3	3	93	1	0	0	0	0	1	0	0	0	17114	217	8	3	483	3	UXS1	2	106729163	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10	9709136	106729163	136470210	18	6144											
TTN	7273	hgsc.bcm.edu	37	2	179429258	179429258	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr2:179429258T>G	ENST00000591111.1	-	276	76902	c.76678A>C	c.(76678-76680)Aaa>Caa	p.K25560Q	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K18328Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K18261Q|TTN_ENST00000460472.2_Missense_Mutation_p.K18136Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K27201Q|TTN_ENST00000342992.6_Missense_Mutation_p.K24633Q			Q8WZ42	TITIN_HUMAN	titin	25560	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGTTATTTTGCTACCACCA	0.423																																																0													75	70	71					2																	179429258		1884	4129	6013	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76678A>C	2.37:g.179429258T>G	ENSP00000465570:p.Lys25560Gln		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	10.73	1.432270	0.25813	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57330	0.2046	M	0.68593	2.085	0.44424	D	0.997349	P;P;P;P	0.35226	0.491;0.491;0.491;0.491	B;B;B;B	0.37650	0.255;0.255;0.255;0.255	T	0.61043	-0.7142	9	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	18136;18261;18328;25560	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	24633;18136;18328;18261;18134	ENSP00000343764:K24633Q;ENSP00000434586:K18136Q;ENSP00000340554:K18328Q;ENSP00000352154:K18261Q	ENSP00000340554:K18328Q	K	-	1	0	TTN	179137504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.539000	0.45718	2.367000	0.80283	0.528000	0.53228	AAA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179429258	T	G	179429258	3	3	93	1	0	0	0	0	1	0	0	0	16740	1821	63	5	26526	5	TTN	2	179429258	Missense_Mutation	SNP	T	TCGA-AK-3428-01A-02D-1361-10	72700095	179429258	63770115	19	6145											
ZNF385B	151126	hgsc.bcm.edu;ucsc.edu	37	2	180310276	180310276	+	Splice_Site	SNP	C	C	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr2:180310276C>T	ENST00000410066.1	-	8	1699		c.e8+1		ZNF385B_ENST00000409343.1_Splice_Site|ZNF385B_ENST00000336917.5_Splice_Site|ZNF385B_ENST00000409692.1_Splice_Site|ZNF385B_ENST00000466398.1_Splice_Site	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B						intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GGATACGTTACCTGTTTGAGT	0.353																																					Colon(155;204 2491 32774 51842)											0													123	106	112					2																	180310276		2203	4300	6503	SO:0001630	splice_region_variant	151126			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1095+1G>A	2.37:g.180310276C>T			Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Splice_Site	SNP	ENST00000410066.1	37	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766494	0.90020	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF385B	180018521	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.818000	0.86416	2.700000	0.92200	0.563000	0.77884	.		0.353	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520	Intron	T	180310276	C	T	180310276	5	4	93	1	0	0	0	0	0	0	1	0	17882	521	18	2	331	2	ZNF385B	2	180310276	Splice_Site	SNP	C	TCGA-AK-3428-01A-02D-1361-10	881018	180310276	62889097	20	6146											
C2orf80	389073	hgsc.bcm.edu	37	2	209051692	209051692	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr2:209051692T>C	ENST00000341287.4	-	2	214	c.19A>G	c.(19-21)Aag>Gag	p.K7E	C2orf80_ENST00000451346.1_Intron|C2orf80_ENST00000453017.1_Missense_Mutation_p.K7E	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	7										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						ATTTCCTTCTTTATGAGCCTT	0.418																																																0													163	153	156					2																	209051692		1868	4124	5992	SO:0001583	missense	389073			AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"gonad development associated 1"	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.19A>G	2.37:g.209051692T>C	ENSP00000343171:p.Lys7Glu		A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	37	CCDS42809.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968747	0.53614	.	.	ENSG00000188674	ENST00000341287;ENST00000453017;ENST00000449053	T;T	0.54071	1.53;0.59	5.34	5.34	0.76211	.	.	.	.	.	T	0.59266	0.2181	L	0.27053	0.805	0.36387	D	0.862303	D	0.89917	1.0	D	0.85130	0.997	T	0.68398	-0.5419	9	0.87932	D	0	-12.7833	11.8839	0.52592	0.0:0.0:0.0:1.0	.	7	Q0P641	CB080_HUMAN	E	7	ENSP00000343171:K7E;ENSP00000397144:K7E	ENSP00000343171:K7E	K	-	1	0	C2orf80	208759937	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	3.817000	0.55668	2.367000	0.80283	0.528000	0.53228	AAG		0.418	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		C	209051692	T	C	209051692	3	2	93	1	0	0	0	0	1	0	0	0	2199	1850	64	3	594	3	C2orf80	2	209051692	Missense_Mutation	SNP	T	TCGA-AK-3428-01A-02D-1361-10	28741416	209051692	34147681	21	6147											
STK11IP	114790	hgsc.bcm.edu	37	2	220466798	220466798	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr2:220466798C>A	ENST00000456909.1	+	5	521	c.431C>A	c.(430-432)gCa>gAa	p.A144E	STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Missense_Mutation_p.A155E			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	155					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.A144V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCTCCAGGCATTAGAGGTA	0.572																																																1	Substitution - Missense(1)	ovary(1)											26	25	26					2																	220466798		1986	4156	6142	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.431C>A	2.37:g.220466798C>A	ENSP00000389383:p.Ala144Glu		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37		.	.	.	.	.	.	.	.	.	.	C	22.7	4.325209	0.81580	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05025	3.51;3.51	4.93	4.93	0.64822	.	0.629307	0.16429	N	0.214808	T	0.16041	0.0386	L	0.47716	1.5	0.28828	N	0.897306	B;D;D;D	0.61697	0.184;0.965;0.96;0.99	B;P;P;P	0.61003	0.131;0.55;0.55;0.882	T	0.01326	-1.1384	10	0.44086	T	0.13	-1.1989	13.6658	0.62393	0.0:0.8449:0.155:0.0	.	155;155;155;155	B4DUE4;B4DII2;Q8N1F8-2;Q8N1F8	.;.;.;S11IP_HUMAN	E	144;155;155	ENSP00000389383:A144E;ENSP00000295641:A155E	ENSP00000295641:A155E	A	+	2	0	STK11IP	220175042	0.997000	0.39634	0.994000	0.49952	0.847000	0.48162	3.846000	0.55888	2.549000	0.85964	0.655000	0.94253	GCA		0.572	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		A	220466798	C	A	220466798	3	1	93	1	0	0	0	0	1	0	0	0	15293	710	25	4	482	4	STK11IP	2	220466798	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	11415106	220466798	22732575	22	6148											
ITIH1	3697	hgsc.bcm.edu;ucsc.edu	37	3	52825566	52825566	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr3:52825566C>G	ENST00000273283.2	+	21	2552	c.2528C>G	c.(2527-2529)tCt>tGt	p.S843C	ITIH1_ENST00000405128.3_Missense_Mutation_p.S209C|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Missense_Mutation_p.S555C|ITIH1_ENST00000540715.1_Missense_Mutation_p.S701C	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	843	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTTGAAGTGTCTGACATCCAC	0.597																																																0													92	88	89					3																	52825566		2203	4300	6503	SO:0001583	missense	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2528C>G	3.37:g.52825566C>G	ENSP00000273283:p.Ser843Cys		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056233	0.36277	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	5.61	-1.4	0.08968	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.683806	0.12760	N	0.441417	T	0.31358	0.0794	M	0.77820	2.39	0.09310	N	1	D;D;D;D	0.69078	0.964;0.996;0.997;0.994	P;D;P;D	0.67382	0.831;0.951;0.87;0.951	T	0.12167	-1.0558	10	0.39692	T	0.17	-3.2158	10.469	0.44624	0.0:0.3657:0.0:0.6343	.	701;209;444;843	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	C	843;701;555;396;209	ENSP00000273283:S843C;ENSP00000443973:S701C;ENSP00000443847:S555C;ENSP00000395836:S396C;ENSP00000384589:S209C	ENSP00000273283:S843C	S	+	2	0	ITIH1	52800606	0.000000	0.05858	0.021000	0.16686	0.627000	0.37826	0.160000	0.16462	-0.155000	0.11098	-0.218000	0.12543	TCT		0.597	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		G	52825566	C	G	52825566	3	3	93	1	0	0	0	0	1	0	0	0	7905	913	32	4	2610	4	ITIH1	3	52825566	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10		52825566	145196864	23	6149											
DNAH12	201625	hgsc.bcm.edu	37	3	57488136	57488136	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr3:57488136T>G	ENST00000351747.2	-	10	1337	c.1157A>C	c.(1156-1158)gAa>gCa	p.E386A	DNAH12_ENST00000311202.6_Missense_Mutation_p.E386A|DNAH12_ENST00000389536.4_Missense_Mutation_p.E386A	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	386	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TAACACGTGTTCAGGAAGTTC	0.388																																																0													242	212	222					3																	57488136		2203	4300	6503	SO:0001583	missense	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1157A>C	3.37:g.57488136T>G	ENSP00000295937:p.Glu386Ala		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37		.	.	.	.	.	.	.	.	.	.	T	14.94	2.685107	0.47991	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.24538	2.0;1.85;3.26;2.85	5.21	5.21	0.72293	.	0.218631	0.37393	N	0.002108	T	0.26268	0.0641	M	0.62723	1.935	0.80722	D	1	B;B	0.25719	0.132;0.024	B;B	0.23574	0.047;0.005	T	0.04440	-1.0951	10	0.31617	T	0.26	.	10.9723	0.47446	0.0:0.0:0.1679:0.832	.	386;386	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	A	386	ENSP00000295937:E386A;ENSP00000418137:E386A;ENSP00000374187:E386A;ENSP00000312554:E386A	ENSP00000312554:E386A	E	-	2	0	DNAH12	57463176	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	1.862000	0.39448	2.087000	0.62958	0.533000	0.62120	GAA		0.388	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		G	57488136	T	G	57488136	3	3	93	1	0	0	0	0	1	0	0	0	4602	1783	62	5	8364	5	DNAH12	3	57488136	Missense_Mutation	SNP	T	TCGA-AK-3428-01A-02D-1361-10	4662570	57488136	140534294	24	6150											
MAN2B2	23324	hgsc.bcm.edu	37	4	6588812	6588812	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr4:6588812A>G	ENST00000285599.3	+	4	517	c.481A>G	c.(481-483)Acc>Gcc	p.T161A	MAN2B2_ENST00000504248.1_Missense_Mutation_p.T161A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	161					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CACGACGCCCACCCTATTTGC	0.617																																																0													59	56	57					4																	6588812		2203	4300	6503	SO:0001583	missense	23324			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.481A>G	4.37:g.6588812A>G	ENSP00000285599:p.Thr161Ala		Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456540	0.63401	.	.	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.22134	1.97;1.97	4.09	4.09	0.47781	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.367103	0.31167	N	0.008123	T	0.27524	0.0676	L	0.41961	1.31	0.39109	D	0.961437	P;P;B	0.45569	0.861;0.861;0.097	P;P;B	0.51918	0.684;0.684;0.099	T	0.04115	-1.0976	10	0.29301	T	0.29	-26.3922	12.5023	0.55962	1.0:0.0:0.0:0.0	.	161;161;161	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	A	161	ENSP00000285599:T161A;ENSP00000423129:T161A	ENSP00000285599:T161A	T	+	1	0	MAN2B2	6639713	1.000000	0.71417	0.946000	0.38457	0.685000	0.39939	5.932000	0.70121	1.602000	0.50124	0.448000	0.29417	ACC		0.617	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		G	6588812	A	G	6588812	3	3	93	1	0	0	0	0	1	0	0	0	9219	159	6	3	495	3	MAN2B2	4	6588812	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10		6588812	184565464	25	6151											
GSTCD	79807	hgsc.bcm.edu	37	4	106766678	106766678	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr4:106766678A>C	ENST00000515279.1	+	12	2066	c.1846A>C	c.(1846-1848)Atg>Ctg	p.M616L	GSTCD_ENST00000360505.5_Missense_Mutation_p.M616L|GSTCD_ENST00000394730.3_Missense_Mutation_p.M529L|GSTCD_ENST00000394728.3_Missense_Mutation_p.M616L|GSTCD_ENST00000515255.1_3'UTR			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	616						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGTGATATCCATGGAGCCAGA	0.433																																																0													101	100	100					4																	106766678		1933	4136	6069	SO:0001583	missense	79807			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.1846A>C	4.37:g.106766678A>C	ENSP00000422354:p.Met616Leu		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043532	0.75732	.	.	ENSG00000138780	ENST00000394730;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	L	0.28014	0.82	0.58432	D	0.999995	D;B	0.65815	0.995;0.017	D;B	0.73380	0.98;0.03	T	0.61510	-0.7048	9	0.29301	T	0.29	0.1316	15.333	0.74229	1.0:0.0:0.0:0.0	.	616;239	Q8NEC7;B7Z8J7	GSTCD_HUMAN;.	L	529;616;616;616	.	ENSP00000353695:M616L	M	+	1	0	GSTCD	106986127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.550000	0.90675	2.008000	0.58898	0.528000	0.53228	ATG		0.433	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		C	106766678	A	C	106766678	3	2	93	1	0	0	0	0	1	0	0	0	6837	217	8	5	1888	5	GSTCD	4	106766678	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10	100177866	106766678	84387598	26	6152											
FAT4	79633	hgsc.bcm.edu	37	4	126336940	126336940	+	Silent	SNP	A	A	C	rs192467233		TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr4:126336940A>C	ENST00000394329.3	+	5	6835	c.6822A>C	c.(6820-6822)acA>acC	p.T2274T	FAT4_ENST00000335110.5_Silent_p.T572T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2274	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTAGGGACACTACCCAGAA	0.358																																																0													44	44	44					4																	126336940		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6822A>C	4.37:g.126336940A>C			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.358	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126336940	A	C	126336940	2	2	93	1	0	0	0	0	0	0	0	1	5694	146	6	5		5	FAT4	4	126336940	Silent	SNP	A	TCGA-AK-3428-01A-02D-1361-10	19570262	126336940	64817336	27	6153											
DEPDC1B	55789	hgsc.bcm.edu	37	5	59982922	59982922	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr5:59982922G>C	ENST00000265036.5	-	2	248	c.181C>G	c.(181-183)Caa>Gaa	p.Q61E	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q34E|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q61E	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	61	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Q61K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CCGAAGTTTTGACTGCACCTC	0.488																																																1	Substitution - Missense(1)	ovary(1)											103	93	97					5																	59982922		2203	4300	6503	SO:0001583	missense	55789			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.181C>G	5.37:g.59982922G>C	ENSP00000265036:p.Gln61Glu		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910337	0.33721	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.20200	2.09;2.09;2.09	5.64	4.77	0.60923	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.422883	0.28448	N	0.015317	T	0.25680	0.0625	L	0.57536	1.79	0.39210	D	0.963309	B;B	0.23806	0.091;0.073	B;B	0.29663	0.105;0.105	T	0.06285	-1.0835	9	.	.	.	-21.1787	16.3686	0.83344	0.0:0.0:0.8671:0.1329	.	61;61	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	E	61;61;34	ENSP00000265036:Q61E;ENSP00000389101:Q61E;ENSP00000438320:Q34E	.	Q	-	1	0	DEPDC1B	60018679	1.000000	0.71417	0.964000	0.40570	0.928000	0.56348	2.351000	0.44071	1.507000	0.48752	0.561000	0.74099	CAA		0.488	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		C	59982922	G	C	59982922	3	2	93	1	0	0	0	0	1	0	0	0	4442	1299	45	4	1448	4	DEPDC1B	5	59982922	Missense_Mutation	SNP	G	TCGA-AK-3428-01A-02D-1361-10		59982922	120932338	28	6154											
PCDHB7	56129	hgsc.bcm.edu	37	5	140553822	140553822	+	Missense_Mutation	SNP	C	C	A	rs202165393	byFrequency	TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr5:140553822C>A	ENST00000231137.3	+	1	1580	c.1406C>A	c.(1405-1407)cCc>cAc	p.P469H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	469	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)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCCCTGCCCATCGGCAGT	0.632													C|||	15	0.00299521	0.0008	0.0187	5008	,	,		17961	0.001		0.0	False		,,,				2504	0.0															0								C	HIS/PRO	2,4404		0,2,2201	112	111	112		1406	1.9	1	5		112	7,8593		0,7,4293	no	missense	PCDHB7	NM_018940.2	77	0,9,6494	AA,AC,CC		0.0814,0.0454,0.0692	benign	469/794	140553822	9,12997	2203	4300	6503	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1406C>A	5.37:g.140553822C>A	ENSP00000231137:p.Pro469His		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	63	0.028846153846153848	20	0.04065040650406504	16	0.04419889502762431	4	0.006993006993006993	23	0.030343007915567283	N	0.020	-1.437021	0.01098	4.54E-4	8.14E-4	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01745	4.66	4.44	1.9	0.25705	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00241	0.0007	N	0.05230	-0.09	0.21020	N	0.999809	B	0.02656	0.0	B	0.04013	0.001	T	0.47262	-0.9131	9	0.02654	T	1	.	5.1719	0.15114	0.3915:0.2663:0.0:0.3421	.	469	Q9Y5E2	PCDB7_HUMAN	H	469;252	ENSP00000231137:P469H	ENSP00000231137:P469H	P	+	2	0	PCDHB7	140534006	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	0.213000	0.17521	0.162000	0.19483	-0.395000	0.06472	CCC		0.632	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140553822	C	A	140553822	3	1	93	1	0	0	0	0	1	0	0	0	11549	623	22	4	1408	4	PCDHB7	5	140553822	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	80570900	140553822	40361438	29	6155											
TNIP1	10318	hgsc.bcm.edu;ucsc.edu	37	5	150422134	150422134	+	Silent	SNP	G	G	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr5:150422134G>C	ENST00000389378.2	-	11	1689	c.1101C>G	c.(1099-1101)ctC>ctG	p.L367L	TNIP1_ENST00000522226.1_Silent_p.L367L|TNIP1_ENST00000315050.7_Silent_p.L367L|TNIP1_ENST00000521591.1_Silent_p.L367L|TNIP1_ENST00000523200.1_Silent_p.L367L|TNIP1_ENST00000518977.1_Silent_p.L367L|TNIP1_ENST00000523338.1_Silent_p.L367L|TNIP1_ENST00000524280.1_Silent_p.L367L|TNIP1_ENST00000520931.1_Silent_p.L314L|TNIP1_ENST00000521423.1_Intron	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	367	Interaction with Shigella flexneri ipah9.8.|Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCAGGAGGAGCTTGCGGT	0.567																																																0													66	62	63					5																	150422134		2203	4300	6503	SO:0001819	synonymous_variant	10318			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1101C>G	5.37:g.150422134G>C			A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	ENST00000389378.2	37	CCDS34280.1																																																																																				0.567	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		C	150422134	G	C	150422134	2	2	93	1	0	0	0	0	0	0	0	1	16319	1161	41	4		4	TNIP1	5	150422134	Silent	SNP	G	TCGA-AK-3428-01A-02D-1361-10	9868312	150422134	30493126	30	6156											
SERPINB1	1992	hgsc.bcm.edu	37	6	2834179	2834179	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr6:2834179T>C	ENST00000380739.5	-	7	1005	c.803A>G	c.(802-804)gAa>gGa	p.E268G	SERPINB1_ENST00000476896.1_5'Flank|SERPINB1_ENST00000537185.1_Missense_Mutation_p.E117G	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	268					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		GACATTAACTTCAATGAAATC	0.443																																																0													45	40	42					6																	2834179		2203	4300	6503	SO:0001583	missense	1992			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"Serine (or cysteine) peptidase inhibitors"	3311	protein-coding gene	gene with protein product		130135	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.803A>G	6.37:g.2834179T>C	ENSP00000370115:p.Glu268Gly		A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460712	0.63513	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	D;D	0.85258	-1.96;-1.96	5.57	4.4	0.53042	Serpin domain (3);	0.475569	0.23123	N	0.051670	T	0.76962	0.4061	M	0.69523	2.12	0.43296	D	0.995283	P	0.38195	0.622	B	0.36766	0.232	T	0.79492	-0.1781	10	0.87932	D	0	.	11.0875	0.48095	0.0:0.0728:0.0:0.9272	.	268	P30740	ILEU_HUMAN	G	268;230;117	ENSP00000370115:E268G;ENSP00000444543:E117G	ENSP00000370115:E268G	E	-	2	0	SERPINB1	2779178	1.000000	0.71417	0.026000	0.17262	0.053000	0.15095	7.746000	0.85057	1.052000	0.40392	-0.297000	0.09499	GAA		0.443	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			C	2834179	T	C	2834179	3	2	93	1	0	0	0	0	1	0	0	0	14102	1783	62	3	340	3	SERPINB1	6	2834179	Missense_Mutation	SNP	T	TCGA-AK-3428-01A-02D-1361-10		2834179	168280888	31	6157											
DNAH8	1769	hgsc.bcm.edu;ucsc.edu	37	6	38994431	38994431	+	Silent	SNP	G	G	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr6:38994431G>A	ENST00000359357.3	+	90	13427	c.13173G>A	c.(13171-13173)acG>acA	p.T4391T	DNAH8_ENST00000441566.1_Silent_p.T4355T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4391					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAGATCACGTCACCCCCTG	0.532																																																0													111	84	93					6																	38994431		2203	4300	6503	SO:0001819	synonymous_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13173G>A	6.37:g.38994431G>A			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																					0.532	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38994431	G	A	38994431	2	1	93	1	0	0	0	0	0	0	0	1	4609	1132	40	1		1	DNAH8	6	38994431	Silent	SNP	G	TCGA-AK-3428-01A-02D-1361-10	36160252	38994431	132120636	32	6158											
CUL9	23113	hgsc.bcm.edu	37	6	43174214	43174214	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr6:43174214T>G	ENST00000252050.4	+	26	5262	c.5178T>G	c.(5176-5178)gaT>gaG	p.D1726E	CUL9_ENST00000372647.2_Missense_Mutation_p.D1726E|CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Missense_Mutation_p.D1616E	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1726					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AATTCTGTGATGCCCTTGACC	0.542																																																0													108	104	106					6																	43174214		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5178T>G	6.37:g.43174214T>G	ENSP00000252050:p.Asp1726Glu		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525324	0.64747	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73363	-0.74;-0.74;-0.74	5.36	1.49	0.22878	Cullin, N-terminal (1);Cullin homology (2);	0.417852	0.26753	N	0.022670	T	0.34308	0.0893	L	0.29908	0.895	0.27356	N	0.956093	P;B;B	0.34587	0.458;0.023;0.023	B;B;B	0.31869	0.137;0.012;0.012	T	0.26430	-1.0103	10	0.66056	D	0.02	-13.0105	0.9044	0.01281	0.1664:0.2359:0.3412:0.2566	.	1616;1726;1726	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	E	1726;1616;1726	ENSP00000252050:D1726E;ENSP00000346490:D1616E;ENSP00000361730:D1726E	ENSP00000252050:D1726E	D	+	3	2	CUL9	43282192	0.959000	0.32827	1.000000	0.80357	0.993000	0.82548	0.186000	0.16978	0.306000	0.22856	0.482000	0.46254	GAT		0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		G	43174214	T	G	43174214	3	3	93	1	0	0	0	0	1	0	0	0	4063	1461	51	5	5276	5	CUL9	6	43174214	Missense_Mutation	SNP	T	TCGA-AK-3428-01A-02D-1361-10	4179783	43174214	127940853	33	6159											
RHAG	6005	hgsc.bcm.edu	37	6	49587014	49587014	+	Silent	SNP	C	C	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr6:49587014C>T	ENST00000371175.4	-	2	245	c.219G>A	c.(217-219)aaG>aaA	p.K73K	RHAG_ENST00000229810.7_Silent_p.K73K	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	73					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGCCATATTTCTTCAGGAAGG	0.448																																					Ovarian(176;476 2003 7720 43408 44749)											0													90	76	81					6																	49587014		2203	4300	6503	SO:0001819	synonymous_variant	6005				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.219G>A	6.37:g.49587014C>T			B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Silent	SNP	ENST00000371175.4	37	CCDS4927.1																																																																																				0.448	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			T	49587014	C	T	49587014	2	4	93	1	0	0	0	0	0	0	0	1	13321	912	32	2		2	RHAG	6	49587014	Silent	SNP	C	TCGA-AK-3428-01A-02D-1361-10	6412800	49587014	121528053	34	6160											
CRHR2	1395	hgsc.bcm.edu;ucsc.edu	37	7	30706864	30706864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr7:30706864C>A	ENST00000471646.1	-	3	712	c.295G>T	c.(295-297)Gag>Tag	p.E99*	CRHR2_ENST00000348438.4_Nonsense_Mutation_p.E126*|CRHR2_ENST00000341843.4_Nonsense_Mutation_p.E85*|CRHR2_ENST00000506074.2_Nonsense_Mutation_p.E99*	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	99					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAAATGGGCTCACACTGTGAG	0.522																																																0													204	156	172					7																	30706864		2203	4300	6503	SO:0001587	stop_gained	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.295G>T	7.37:g.30706864C>A	ENSP00000418722:p.Glu99*		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Nonsense_Mutation	SNP	ENST00000471646.1	37	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181794	0.94885	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	.	.	.	5.65	3.83	0.44106	.	0.207334	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	9.7814	0.40651	0.0:0.781:0.1414:0.0775	.	.	.	.	X	99;126;85;99	.	ENSP00000344304:E85X	E	-	1	0	CRHR2	30673389	0.962000	0.33011	0.968000	0.41197	0.996000	0.88848	0.350000	0.20079	0.847000	0.35167	0.561000	0.74099	GAG		0.522	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			A	30706864	C	A	30706864	4	1	93	1	0	0	0	0	0	1	0	0	3874	835	29	4	980	4	CRHR2	7	30706864	Nonsense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10		30706864	128431799	35	6161											
POP7	10248	hgsc.bcm.edu	37	7	100304816	100304816	+	Silent	SNP	G	G	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr7:100304816G>A	ENST00000303151.4	+	2	625	c.363G>A	c.(361-363)ctG>ctA	p.L121L		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	121					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGAGCCACTGACTCGGATCC	0.572																																																0													66	67	66					7																	100304816		2203	4300	6503	SO:0001819	synonymous_variant	10248			U94316	CCDS5704.1	7q22	2012-05-21	2007-06-26		ENSG00000172336	ENSG00000172336			19949	protein-coding gene	gene with protein product	"ribonuclease P protein subunit p20"	606113	"processing of precursor 7, ribonuclease P subunit (S. cerevisiae)"			9630247	Standard	NM_005837		Approved	RPP20, RPP2	uc003uwh.4	O75817	OTTHUMG00000044311	ENST00000303151.4:c.363G>A	7.37:g.100304816G>A			A4D2E0|Q9BV74	Silent	SNP	ENST00000303151.4	37	CCDS5704.1																																																																																				0.572	POP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103070.1	NM_005837		A	100304816	G	A	100304816	2	1	93	1	0	0	0	0	0	0	0	1	12256	1277	45	2		2	POP7	7	100304816	Silent	SNP	G	TCGA-AK-3428-01A-02D-1361-10	69597952	100304816	58833847	36	6162											
GPR37	2861	hgsc.bcm.edu;ucsc.edu	37	7	124404891	124404891	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr7:124404891G>A	ENST00000303921.2	-	1	790	c.140C>T	c.(139-141)aCa>aTa	p.T47I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	47					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGGATCACTGTAGGTGCACA	0.632																																																0													26	29	28					7																	124404891		2203	4300	6503	SO:0001583	missense	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.140C>T	7.37:g.124404891G>A	ENSP00000306449:p.Thr47Ile		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	2.444	-0.327991	0.05314	.	.	ENSG00000170775	ENST00000303921	T	0.07327	3.2	4.71	-1.41	0.08941	.	1.767710	0.02430	N	0.083490	T	0.04998	0.0134	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36040	-0.9764	10	0.17369	T	0.5	4.4278	4.901	0.13775	0.4518:0.1537:0.3945:0.0	.	47	O15354	GPR37_HUMAN	I	47	ENSP00000306449:T47I	ENSP00000306449:T47I	T	-	2	0	GPR37	124192127	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.136000	0.15974	-0.528000	0.06366	-0.748000	0.03510	ACA		0.632	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		A	124404891	G	A	124404891	3	1	93	1	0	0	0	0	1	0	0	0	6693	1377	48	2	1709	2	GPR37	7	124404891	Missense_Mutation	SNP	G	TCGA-AK-3428-01A-02D-1361-10	24100075	124404891	34733772	37	6163											
KIAA1549	57670	hgsc.bcm.edu;ucsc.edu	37	7	138595936	138595936	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr7:138595936T>G	ENST00000422774.1	-	4	3149	c.3101A>C	c.(3100-3102)aAa>aCa	p.K1034T	KIAA1549_ENST00000440172.1_Missense_Mutation_p.K1034T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.K984T			Q9HCM3	K1549_HUMAN	KIAA1549	1034						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAAAGAAGGTTTCACAGACAG	0.388			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													52	51	51					7																	138595936		1874	4112	5986	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3101A>C	7.37:g.138595936T>G	ENSP00000416040:p.Lys1034Thr		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851391	0.51270	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.23950	1.88;1.89;1.88	5.23	1.6	0.23607	.	0.563398	0.18063	N	0.152887	T	0.10551	0.0258	N	0.03608	-0.345	0.09310	N	0.99999	B;B	0.21225	0.031;0.053	B;B	0.24394	0.024;0.053	T	0.30031	-0.9992	10	0.31617	T	0.26	.	7.8253	0.29311	0.0:0.2561:0.0:0.7439	.	1034;1034	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	T	1034;984;1034	ENSP00000406661:K1034T;ENSP00000242365:K984T;ENSP00000416040:K1034T	ENSP00000242365:K984T	K	-	2	0	KIAA1549	138246476	0.333000	0.24731	0.782000	0.31804	0.997000	0.91878	0.909000	0.28558	0.123000	0.18342	0.533000	0.62120	AAA		0.388	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			G	138595936	T	G	138595936	3	3	93	1	0	0	0	0	1	0	0	0	8246	1841	64	5	2819	5	KIAA1549	7	138595936	Missense_Mutation	SNP	T	TCGA-AK-3428-01A-02D-1361-10	14191045	138595936	20542727	38	6164											
NRG1	3084	hgsc.bcm.edu;ucsc.edu	37	8	32600253	32600253	+	Intron	SNP	T	T	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr8:32600253T>A	ENST00000405005.3	+	7	700				NRG1_ENST00000523079.1_Splice_Site|NRG1_ENST00000520407.1_Missense_Mutation_p.S412R|NRG1_ENST00000356819.4_Splice_Site|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287842.3_Splice_Site|NRG1_ENST00000287845.5_Splice_Site|NRG1_ENST00000341377.5_Splice_Site|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Splice_Site|NRG1_ENST00000520502.2_Missense_Mutation_p.S286R|NRG1_ENST00000539990.1_Splice_Site			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCTTCTACAGTACGTCCACTC	0.463																																																0													283	237	253					8																	32600253		2203	4300	6503	SO:0001627	intron_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.700+660T>A	8.37:g.32600253T>A			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.77|19.77	3.888557|3.888557	0.72524|0.72524	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000356819;ENST00000287845;ENST00000287842;ENST00000518084;ENST00000519240;ENST00000539990|ENST00000520407;ENST00000520502	.|D;D	.|0.91740	.|-2.9;-2.9	6.03|6.03	4.88|4.88	0.63580|0.63580	.|.	.|.	.|.	.|.	.|.	.|D	.|0.92231	.|0.7536	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;B;D;P	.|0.53462	.|0.127;0.126;0.96;0.865	.|B;B;P;P	.|0.50537	.|0.042;0.082;0.643;0.618	.|D	.|0.90851	.|0.4731	.|7	.|.	.|.	.|.	.|.	11.8765|11.8765	0.52550|0.52550	0.0:0.0674:0.0:0.9326|0.0:0.0674:0.0:0.9326	.|.	.|196;286;231;412	.|B0FWZ3;Q02297-10;Q02297-8;Q02297-9	.|.;.;.;.	.|R	-1|412;286	.|ENSP00000434640:S412R;ENSP00000433289:S286R	.|.	.|S	+|+	.|3	.|2	NRG1|NRG1	32719795|32719795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.015000|8.015000	0.88690|0.88690	1.113000|1.113000	0.41760|0.41760	0.533000|0.533000	0.62120|0.62120	.|AGT		0.463	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			A	32600253	T	A	32600253	1	1	93	0	1	0	0	0	0	0	0	0	10649	1652	57	5		5	NRG1	8	32600253	Intron	SNP	T	TCGA-AK-3428-01A-02D-1361-10		32600253	113763769	39	6165											
ADAM9	8754	hgsc.bcm.edu;ucsc.edu	37	8	38869228	38869228	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr8:38869228A>T	ENST00000487273.2	+	3	325	c.247A>T	c.(247-249)Agg>Tgg	p.R83W	ADAM9_ENST00000481513.1_Missense_Mutation_p.R83W|ADAM9_ENST00000466936.1_Missense_Mutation_p.R83W	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	83				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TCACTTGGAAAGGAACAAGTA	0.299																																																0													156	155	155					8																	38869228		2203	4300	6503	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.247A>T	8.37:g.38869228A>T	ENSP00000419446:p.Arg83Trp		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961415	0.74016	.	.	ENSG00000168615	ENST00000466936;ENST00000481513;ENST00000487273	T;T;T	0.07216	3.21;3.21;3.21	4.73	3.56	0.40772	Peptidase M12B, propeptide (1);	0.154590	0.64402	D	0.000010	T	0.30759	0.0775	M	0.89904	3.07	0.43283	D	0.995252	D;D;D	0.71674	0.971;0.998;0.997	P;D;D	0.73380	0.855;0.98;0.943	T	0.03852	-1.0998	10	0.72032	D	0.01	.	8.1293	0.31018	0.9053:0.0:0.0947:0.0	.	83;83;83	Q13443;C9J6H5;C9JPM3	ADAM9_HUMAN;.;.	W	83	ENSP00000420257:R83W;ENSP00000417066:R83W;ENSP00000419446:R83W	ENSP00000369249:R83W	R	+	1	2	ADAM9	38988385	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.631000	0.54280	0.753000	0.32945	0.455000	0.32223	AGG		0.299	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			T	38869228	A	T	38869228	3	4	93	1	0	0	0	0	1	0	0	0	253	63	3	5	257	5	ADAM9	8	38869228	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10	6268975	38869228	107494794	40	6166											
TGS1	96764	hgsc.bcm.edu	37	8	56711602	56711602	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr8:56711602A>C	ENST00000260129.5	+	8	2149	c.1672A>C	c.(1672-1674)Aaa>Caa	p.K558Q		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	558					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GTCTGTTAAAAAAGGTGATGA	0.413																																					Esophageal Squamous(34;275 823 4842 34837 48447)											0													139	121	127					8																	56711602		2203	4300	6503	SO:0001583	missense	96764			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1672A>C	8.37:g.56711602A>C	ENSP00000260129:p.Lys558Gln		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.202204	0.58234	.	.	ENSG00000137574	ENST00000260129	T	0.10960	2.82	5.73	2.01	0.26516	.	0.466924	0.24965	N	0.034188	T	0.10337	0.0253	M	0.68317	2.08	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.15052	0.012;0.011	T	0.32824	-0.9892	10	0.52906	T	0.07	-4.906	1.6996	0.02870	0.5251:0.1397:0.2151:0.1201	.	558;558	B2RBJ7;Q96RS0	.;TGS1_HUMAN	Q	558	ENSP00000260129:K558Q	ENSP00000260129:K558Q	K	+	1	0	TGS1	56874156	0.000000	0.05858	0.000000	0.03702	0.891000	0.51852	-0.062000	0.11674	0.099000	0.17552	0.528000	0.53228	AAA		0.413	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		C	56711602	A	C	56711602	3	2	93	1	0	0	0	0	1	0	0	0	15842	15	1	5	1702	5	TGS1	8	56711602	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10	17842374	56711602	89652420	41	6167											
ZFPM2	23414	hgsc.bcm.edu;ucsc.edu	37	8	106815608	106815608	+	Missense_Mutation	SNP	C	C	G	rs199678497		TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr8:106815608C>G	ENST00000407775.2	+	8	3548	c.3298C>G	c.(3298-3300)Cag>Gag	p.Q1100E	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q831E|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q968E|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q968E	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1100					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCAGAGGAACAGTTGTCTAG	0.478																																																0								C	GLU/GLN	0,3800		0,0,1900	53	52	52		3298	5.8	1	8		52	2,8244		0,2,4121	no	missense	ZFPM2	NM_012082.3	29	0,2,6021	GG,GC,CC		0.0243,0.0,0.0166	benign	1100/1152	106815608	2,12044	1900	4123	6023	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3298C>G	8.37:g.106815608C>G	ENSP00000384179:p.Gln1100Glu		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.456531	0.01071	0.0	2.43E-4	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.17854	2.25;2.73;2.73;3.94	5.81	5.81	0.92471	.	0.214248	0.50627	D	0.000120	T	0.10551	0.0258	N	0.12182	0.205	0.43417	D	0.995561	B	0.11235	0.004	B	0.09377	0.004	T	0.11591	-1.0581	10	0.02654	T	1	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	1100	Q8WW38	FOG2_HUMAN	E	1100;968;968;831	ENSP00000384179:Q1100E;ENSP00000430757:Q968E;ENSP00000428720:Q968E;ENSP00000367733:Q831E	ENSP00000367733:Q831E	Q	+	1	0	ZFPM2	106884784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.958000	0.56737	2.755000	0.94549	0.650000	0.86243	CAG		0.478	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			G	106815608	C	G	106815608	3	3	93	1	0	0	0	0	1	0	0	0	17663	479	17	4	3328	4	ZFPM2	8	106815608	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	50104006	106815608	39548414	42	6168											
ZHX1	11244	hgsc.bcm.edu	37	8	124267674	124267674	+	Silent	SNP	A	A	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr8:124267674A>G	ENST00000522655.1	-	3	1053	c.513T>C	c.(511-513)gtT>gtC	p.V171V	ZHX1_ENST00000395571.3_Silent_p.V171V|ZHX1_ENST00000297857.2_Silent_p.V171V|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	171					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CCGAAGAAGAAACTTCTGTAG	0.333																																																0													105	106	105					8																	124267674		2203	4300	6503	SO:0001819	synonymous_variant	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.513T>C	8.37:g.124267674A>G			Q8IWD8	Silent	SNP	ENST00000522655.1	37	CCDS6342.1																																																																																				0.333	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			G	124267674	A	G	124267674	2	3	93	1	0	0	0	0	0	0	0	1	17680	1	1	3		3	ZHX1	8	124267674	Silent	SNP	A	TCGA-AK-3428-01A-02D-1361-10	17452066	124267674	22096348	43	6169											
SVEP1	79987	hgsc.bcm.edu	37	9	113169538	113169538	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr9:113169538A>G	ENST00000401783.2	-	38	8678	c.8342T>C	c.(8341-8343)gTc>gCc	p.V2781A	SVEP1_ENST00000374469.1_Missense_Mutation_p.V2758A|SVEP1_ENST00000297826.5_Missense_Mutation_p.V707A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2781	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCCATTCATGACTGGATTTGG	0.468																																																0													119	118	118					9																	113169538		2041	4193	6234	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8342T>C	9.37:g.113169538A>G	ENSP00000384917:p.Val2781Ala		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	8.316	0.823288	0.16678	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.66460	-0.21;-0.21;-0.21	5.47	5.47	0.80525	Complement control module (2);Sushi/SCR/CCP (3);	0.613800	0.16396	N	0.216256	T	0.61527	0.2354	L	0.61218	1.895	0.80722	D	1	B	0.31655	0.334	B	0.28385	0.089	T	0.59252	-0.7489	10	0.31617	T	0.26	.	10.9783	0.47480	0.9269:0.0:0.0731:0.0	.	2781	Q4LDE5	SVEP1_HUMAN	A	2781;2758;707;453	ENSP00000384917:V2781A;ENSP00000363593:V2758A;ENSP00000297826:V707A	ENSP00000297826:V707A	V	-	2	0	SVEP1	112209359	0.735000	0.28153	0.005000	0.12908	0.360000	0.29518	6.067000	0.71193	2.203000	0.70933	0.482000	0.46254	GTC		0.468	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113169538	A	G	113169538	3	3	93	1	0	0	0	0	1	0	0	0	15425	275	10	3	2417	3	SVEP1	9	113169538	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10		113169538	28043893	44	6170											
PDCD11	22984	hgsc.bcm.edu;ucsc.edu	37	10	105164925	105164925	+	Silent	SNP	C	C	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr10:105164925C>T	ENST00000369797.3	+	5	643	c.549C>T	c.(547-549)gcC>gcT	p.A183A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	183					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTGCTGAGGCCCTGAAGCCTG	0.552																																																0													159	138	145					10																	105164925		2203	4300	6503	SO:0001819	synonymous_variant	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.549C>T	10.37:g.105164925C>T			Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	CCDS31276.1																																																																																				0.552	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			T	105164925	C	T	105164925	2	4	93	1	0	0	0	0	0	0	0	1	11619	610	22	2		2	PDCD11	10	105164925	Silent	SNP	C	TCGA-AK-3428-01A-02D-1361-10		105164925	30369822	45	6171											
DHX32	55760	hgsc.bcm.edu;ucsc.edu	37	10	127548370	127548370	+	Silent	SNP	G	G	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr10:127548370G>C	ENST00000284690.3	-	3	1141	c.651C>G	c.(649-651)tcC>tcG	p.S217S	DHX32_ENST00000284688.6_Silent_p.S217S	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	217	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGTGAGGTGAGGAGTTAATTA	0.383																																																0													176	170	172					10																	127548370		2203	4300	6503	SO:0001819	synonymous_variant	55760				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.651C>G	10.37:g.127548370G>C			A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	CCDS7652.1																																																																																				0.383	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		C	127548370	G	C	127548370	2	2	93	1	0	0	0	0	0	0	0	1	4507	987	35	4		4	DHX32	10	127548370	Silent	SNP	G	TCGA-AK-3428-01A-02D-1361-10	22383445	127548370	7986377	46	6172											
SOX6	55553	hgsc.bcm.edu	37	11	16010675	16010675	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr11:16010675G>A	ENST00000352083.6	-	14	1911	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	SOX6_ENST00000528252.1_Missense_Mutation_p.R585C|SOX6_ENST00000396356.3_Missense_Mutation_p.R592C|SOX6_ENST00000528429.1_Missense_Mutation_p.R612C|SOX6_ENST00000527619.1_Missense_Mutation_p.R588C|SOX6_ENST00000316399.6_Missense_Mutation_p.R592C			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	612					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R592C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCACGGCCGCGGGCGTCCCTG	0.522											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)											141	136	138					11																	16010675		2200	4294	6494	SO:0001583	missense	55553			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1834C>T	11.37:g.16010675G>A	ENSP00000339876:p.Arg612Cys	707	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.034538	0.75617	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98264	-4.82;-4.8;-4.82;-4.83;-4.83;-4.8	5.72	5.72	0.89469	High mobility group, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	L	0.43923	1.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.995	D	0.99904	1.1171	10	0.87932	D	0	.	19.879	0.96888	0.0:0.0:1.0:0.0	.	592;612;588	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	C	592;612;592;585;588;612	ENSP00000324948:R592C;ENSP00000339876:R612C;ENSP00000379644:R592C;ENSP00000432134:R585C;ENSP00000434455:R588C;ENSP00000433233:R612C	ENSP00000324948:R592C	R	-	1	0	SOX6	15967251	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.531000	0.60602	2.695000	0.91970	0.655000	0.94253	CGC		0.522	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		A	16010675	G	A	16010675	3	1	93	1	0	0	0	0	1	0	0	0	14961	1116	39	1	664	1	SOX6	11	16010675	Missense_Mutation	SNP	G	TCGA-AK-3428-01A-02D-1361-10		16010675	118995841	47	6173											
HINFP	25988	hgsc.bcm.edu	37	11	119005189	119005189	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr11:119005189C>T	ENST00000350777.2	+	10	1598	c.1535C>T	c.(1534-1536)cCa>cTa	p.P512L		NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	512	Interaction with NPAT.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.P512L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCTGAGGAGCCAGAGATCCAG	0.587											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	pancreas(1)											21	24	23					11																	119005189		2200	4295	6495	SO:0001583	missense	25988			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1535C>T	11.37:g.119005189C>T	ENSP00000318085:p.Pro512Leu	1492	B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	7.205	0.594167	0.13875	.	.	ENSG00000172273	ENST00000350777	T	0.06218	3.33	5.13	3.21	0.36854	.	0.264553	0.31031	N	0.008384	T	0.03095	0.0091	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32903	-0.9889	10	0.02654	T	1	-4.1118	4.1923	0.10426	0.2031:0.6199:0.0:0.177	.	512	Q9BQA5	HINFP_HUMAN	L	512	ENSP00000318085:P512L	ENSP00000318085:P512L	P	+	2	0	HINFP	118510399	0.581000	0.26741	0.808000	0.32385	0.252000	0.25951	0.353000	0.20130	1.389000	0.46526	0.655000	0.94253	CCA		0.587	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		T	119005189	C	T	119005189	3	4	93	1	0	0	0	0	1	0	0	0	7112	594	21	2	1569	2	HINFP	11	119005189	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	102994514	119005189	16001327	48	6174											
LRMP	4033	hgsc.bcm.edu;ucsc.edu	37	12	25232386	25232386	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr12:25232386A>G	ENST00000354454.3	+	7	955	c.126A>G	c.(124-126)atA>atG	p.I42M	LRMP_ENST00000547044.1_Missense_Mutation_p.I42M|LRMP_ENST00000548766.1_Missense_Mutation_p.I42M	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	98					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					ACGGTACTATAACTTCAAGTG	0.393																																																0													129	126	127					12																	25232386		2203	4300	6503	SO:0001583	missense	4033				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.126A>G	12.37:g.25232386A>G	ENSP00000346442:p.Ile42Met		A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	A	8.164	0.790168	0.16258	.	.	ENSG00000118308	ENST00000550945;ENST00000557489;ENST00000354454;ENST00000548766;ENST00000554942;ENST00000547044	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	4.27	-2.25	0.06888	.	0.458028	0.18310	N	0.145146	T	0.09555	0.0235	N	0.08118	0	0.21105	N	0.999786	B	0.33777	0.425	B	0.40410	0.328	T	0.30794	-0.9966	10	0.62326	D	0.03	-7.1878	9.3051	0.37870	0.4371:0.0:0.5629:0.0	.	98	Q12912	LRMP_HUMAN	M	42	ENSP00000448534:I42M;ENSP00000452116:I42M;ENSP00000346442:I42M;ENSP00000446496:I42M;ENSP00000450634:I42M;ENSP00000450246:I42M	ENSP00000346442:I42M	I	+	3	3	LRMP	25123653	0.121000	0.22262	0.696000	0.30242	0.939000	0.58152	-0.370000	0.07523	-0.396000	0.07703	0.482000	0.46254	ATA		0.393	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		G	25232386	A	G	25232386	3	3	93	1	0	0	0	0	1	0	0	0	8952	352	13	3	136	3	LRMP	12	25232386	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10		25232386	108619509	49	6175											
KLHDC5	57542	hgsc.bcm.edu	37	12	27950786	27950786	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr12:27950786A>T	ENST00000381271.2	+	3	1516	c.1205A>T	c.(1204-1206)gAg>gTg	p.E402V	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	402					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TGTCTCCACGAGCTGGGGCCC	0.587																																																0													98	92	94					12																	27950786		2203	4300	6503	SO:0001583	missense	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1205A>T	12.37:g.27950786A>T	ENSP00000370671:p.Glu402Val		Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884695	0.51908	.	.	ENSG00000087448	ENST00000381271	T	0.74737	-0.87	4.9	4.9	0.64082	Kelch-type beta propeller (1);	0.115106	0.56097	D	0.000021	T	0.72645	0.3486	L	0.53249	1.67	0.47476	D	0.999437	P	0.48911	0.917	B	0.44315	0.446	T	0.77239	-0.2661	10	0.72032	D	0.01	.	13.8554	0.63524	1.0:0.0:0.0:0.0	.	402	Q9P2K6	KLDC5_HUMAN	V	402	ENSP00000370671:E402V	ENSP00000370671:E402V	E	+	2	0	KLHDC5	27842053	1.000000	0.71417	0.892000	0.35008	0.971000	0.66376	6.868000	0.75516	2.040000	0.60383	0.533000	0.62120	GAG		0.587	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		T	27950786	A	T	27950786	3	4	93	1	0	0	0	0	1	0	0	0	8361	304	11	5	1215	5	KLHDC5	12	27950786	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10	2718400	27950786	105901109	50	6176											
UNG	7374	hgsc.bcm.edu;ucsc.edu	37	12	109541417	109541417	+	Splice_Site	SNP	G	G	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr12:109541417G>A	ENST00000242576.2	+	6	907		c.e6+1		UNG_ENST00000336865.2_Splice_Site	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CATTGATAGGGTATGttttgt	0.393								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																							0													48	39	42					12																	109541417		2203	4300	6503	SO:0001630	splice_region_variant	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.801+1G>A	12.37:g.109541417G>A				Splice_Site	SNP	ENST00000242576.2	37	CCDS9124.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029167	0.75504	.	.	ENSG00000076248	ENST00000242576;ENST00000336865;ENST00000537518;ENST00000542183	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7324	0.88382	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNG	108025800	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.316000	0.96319	2.500000	0.84329	0.650000	0.86243	.		0.393	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	NM_080911	Intron	A	109541417	G	A	109541417	5	1	93	1	0	0	0	0	0	0	1	0	17004	1275	44	2	929	2	UNG	12	109541417	Splice_Site	SNP	G	TCGA-AK-3428-01A-02D-1361-10	81590631	109541417	24310478	51	6177											
ACAD10	80724	hgsc.bcm.edu	37	12	112186271	112186271	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr12:112186271A>T	ENST00000313698.4	+	17	2791	c.2636A>T	c.(2635-2637)gAt>gTt	p.D879V	ACAD10_ENST00000455480.2_Missense_Mutation_p.D910V|ACAD10_ENST00000392636.2_Missense_Mutation_p.D481V|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	879						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGACTGGAAGATGCACCAGGT	0.597																																																0													55	58	57					12																	112186271		2203	4300	6503	SO:0001583	missense	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2636A>T	12.37:g.112186271A>T	ENSP00000325137:p.Asp879Val		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670460	0.67814	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000455480;ENST00000313698	D;D;D	0.98862	-5.19;-5.17;-5.17	5.87	3.5	0.40072	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.272597	0.33980	N	0.004366	D	0.98845	0.9610	M	0.83692	2.655	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.988;0.998	D;D;D	0.68353	0.957;0.914;0.946	D	0.99327	1.0908	10	0.87932	D	0	.	9.847	0.41032	0.8553:0.0:0.1447:0.0	.	910;879;879	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	V	481;879;910;879	ENSP00000376411:D481V;ENSP00000389813:D910V;ENSP00000325137:D879V	ENSP00000325137:D879V	D	+	2	0	ACAD10	110670654	0.996000	0.38824	0.040000	0.18447	0.055000	0.15305	3.562000	0.53777	1.045000	0.40225	0.533000	0.62120	GAT		0.597	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		T	112186271	A	T	112186271	3	4	93	1	0	0	0	0	1	0	0	0	108	333	12	5	2795	5	ACAD10	12	112186271	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10	2644854	112186271	21665624	52	6178											
HSPH1	10808	hgsc.bcm.edu	37	13	31711636	31711636	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr13:31711636A>C	ENST00000320027.5	-	18	2740	c.2396T>G	c.(2395-2397)gTt>gGt	p.V799G	HSPH1_ENST00000380405.4_Missense_Mutation_p.V755G|HSPH1_ENST00000445273.2_Missense_Mutation_p.V801G|HSPH1_ENST00000380406.5_Missense_Mutation_p.V758G|HSPH1_ENST00000429785.2_Missense_Mutation_p.V618G	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	799					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTGTGTTACAACGGGTTCACA	0.348																																																0													133	128	129					13																	31711636		2202	4300	6502	SO:0001583	missense	10808			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2396T>G	13.37:g.31711636A>C	ENSP00000318687:p.Val799Gly		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694185	0.48202	.	.	ENSG00000120694	ENST00000435381;ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000380363;ENST00000429785	T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37	5.85	5.85	0.93711	.	0.145914	0.42420	D	0.000704	T	0.34774	0.0909	L	0.50333	1.59	0.29425	N	0.860291	D;P;P;D;P	0.59357	0.985;0.841;0.92;0.959;0.865	P;P;P;P;P	0.61397	0.709;0.888;0.623;0.888;0.696	T	0.16070	-1.0415	10	0.87932	D	0	-10.8805	16.2271	0.82306	1.0:0.0:0.0:0.0	.	618;758;801;755;799	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	G	63;799;755;758;801;85;618	ENSP00000408991:V63G;ENSP00000318687:V799G;ENSP00000369768:V755G;ENSP00000369769:V758G;ENSP00000396090:V801G;ENSP00000388778:V618G	ENSP00000318687:V799G	V	-	2	0	HSPH1	30609636	0.971000	0.33674	0.013000	0.15412	0.454000	0.32378	7.521000	0.81832	2.234000	0.73211	0.460000	0.39030	GTT		0.348	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			C	31711636	A	C	31711636	3	2	93	1	0	0	0	0	1	0	0	0	7433	43	2	5	184	5	HSPH1	13	31711636	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10		31711636	83458242	53	6179											
KIAA1409	57578	hgsc.bcm.edu	37	14	93994955	93994955	+	Silent	SNP	T	T	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr14:93994955T>C	ENST00000393151.2	+	9	1015	c.1015T>C	c.(1015-1017)Ttg>Ctg	p.L339L	UNC79_ENST00000553484.1_Silent_p.L339L|UNC79_ENST00000256339.4_Silent_p.L162L|UNC79_ENST00000555664.1_Silent_p.L339L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	339					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACCACCCCCGTTGTATCTCTG	0.408																																																0													115	111	113					14																	93994955		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1015T>C	14.37:g.93994955T>C			B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.408	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	93994955	T	C	93994955	2	2	93	1	0	0	0	0	0	0	0	1	8232	1722	60	3		3	KIAA1409	14	93994955	Silent	SNP	T	TCGA-AK-3428-01A-02D-1361-10		93994955	13354585	54	6180											
DUOX2	50506	hgsc.bcm.edu;ucsc.edu	37	15	45388135	45388135	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr15:45388135G>A	ENST00000603300.1	-	30	4173	c.3971C>T	c.(3970-3972)cCc>cTc	p.P1324L	DUOX2_ENST00000389039.6_Missense_Mutation_p.P1324L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1324	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTCCTCATGGGGCGCGGAGGT	0.632																																																0													91	80	84					15																	45388135		2198	4298	6496	SO:0001583	missense	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3971C>T	15.37:g.45388135G>A	ENSP00000475084:p.Pro1324Leu		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796824	0.90453	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.57	5.57	0.84162	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90909	0.7143	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94180	0.7431	9	0.87932	D	0	-25.5716	18.5351	0.91008	0.0:0.0:1.0:0.0	.	1324	Q9NRD8	DUOX2_HUMAN	L	1324	.	ENSP00000373691:P1324L	P	-	2	0	DUOX2	43175427	1.000000	0.71417	0.998000	0.56505	0.572000	0.35998	9.841000	0.99482	2.619000	0.88677	0.561000	0.74099	CCC		0.632	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		A	45388135	G	A	45388135	3	1	93	1	0	0	0	0	1	0	0	0	4803	1232	43	2	695	2	DUOX2	15	45388135	Missense_Mutation	SNP	G	TCGA-AK-3428-01A-02D-1361-10		45388135	57143257	55	6181											
CHSY1	22856	hgsc.bcm.edu;ucsc.edu	37	15	101717750	101717750	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr15:101717750C>G	ENST00000254190.3	-	3	2727	c.2252G>C	c.(2251-2253)tGt>tCt	p.C751S	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	751					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTGGGATCACAAAAGACAGG	0.507																																																0													116	92	100					15																	101717750		2203	4300	6503	SO:0001583	missense	22856			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.2252G>C	15.37:g.101717750C>G	ENSP00000254190:p.Cys751Ser		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157858	0.78114	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.18174	2.23	5.87	5.87	0.94306	.	0.103999	0.64402	D	0.000002	T	0.54046	0.1834	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61148	-0.7121	10	0.59425	D	0.04	-23.9437	20.1947	0.98239	0.0:1.0:0.0:0.0	.	751	Q86X52	CHSS1_HUMAN	S	751;479	ENSP00000254190:C751S	ENSP00000254190:C751S	C	-	2	0	CHSY1	99535273	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.627000	0.83176	2.780000	0.95670	0.561000	0.74099	TGT		0.507	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		G	101717750	C	G	101717750	3	3	93	1	0	0	0	0	1	0	0	0	3414	478	17	4	160	4	CHSY1	15	101717750	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	56329615	101717750	813642	56	6182											
SEZ6L2	26470	hgsc.bcm.edu;ucsc.edu	37	16	29884668	29884668	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr16:29884668G>T	ENST00000308713.5	-	14	2908	c.2381C>A	c.(2380-2382)tCt>tAt	p.S794Y	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.S680Y|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S724Y|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.S750Y	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	794	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGCGCAGAGACTCGCCCGC	0.637																																																0													113	112	112					16																	29884668		2197	4300	6497	SO:0001583	missense	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2381C>A	16.37:g.29884668G>T	ENSP00000312550:p.Ser794Tyr		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187160	0.78789	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.39	4.39	0.52855	Complement control module (2);Sushi/SCR/CCP (3);	0.305247	0.23896	N	0.043486	T	0.76126	0.3944	M	0.62209	1.925	0.49051	D	0.999743	D;P;D;P;P;P	0.61080	0.98;0.938;0.989;0.924;0.938;0.924	P;P;P;P;P;P	0.58077	0.782;0.77;0.832;0.66;0.77;0.66	T	0.79505	-0.1776	10	0.66056	D	0.02	.	15.8793	0.79193	0.0:0.0:1.0:0.0	.	750;794;680;724;794;724	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	Y	724;794;680;750	ENSP00000310206:S724Y;ENSP00000312550:S794Y;ENSP00000319215:S680Y;ENSP00000439412:S750Y	ENSP00000312550:S794Y	S	-	2	0	SEZ6L2	29792169	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.263000	0.95617	2.257000	0.74773	0.655000	0.94253	TCT		0.637	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		T	29884668	G	T	29884668	3	4	93	1	0	0	0	0	1	0	0	0	14150	942	33	4	410	4	SEZ6L2	16	29884668	Missense_Mutation	SNP	G	TCGA-AK-3428-01A-02D-1361-10		29884668	60470085	57	6183											
WWOX	51741	hgsc.bcm.edu;ucsc.edu	37	16	78466519	78466519	+	Missense_Mutation	SNP	G	G	T	rs370792938		TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr16:78466519G>T	ENST00000566780.1	+	8	1292	c.926G>T	c.(925-927)cGt>cTt	p.R309L	WWOX_ENST00000408984.3_Missense_Mutation_p.R309L|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	309	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GAGCTGCACCGTCGCCTCTCC	0.532																																																0													120	124	122					16																	78466519		2073	4202	6275	SO:0001583	missense	51741			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.926G>T	16.37:g.78466519G>T	ENSP00000457230:p.Arg309Leu		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	CCDS42196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.631623|4.631623	0.87660|0.87660	.|.	.|.	ENSG00000186153|ENSG00000186153	ENST00000408984|ENST00000299644	D|.	0.85861|.	-2.04|.	5.93|5.93	5.93|5.93	0.95920|0.95920	NAD(P)-binding domain (1);|.	0.117017|.	0.64402|.	D|.	0.000016|.	D|D	0.90386|0.90386	0.6991|0.6991	H|H	0.96691|0.96691	3.865|3.865	0.80722|0.80722	D|D	1|1	D|.	0.54207|.	0.965|.	P|.	0.50405|.	0.64|.	D|D	0.92586|0.92586	0.6079|0.6079	10|6	0.72032|0.72032	D|D	0.01|0.01	.|.	20.3261|20.3261	0.98701|0.98701	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	309|.	Q9NZC7|.	WWOX_HUMAN|.	L|F	309|152	ENSP00000386161:R309L|.	ENSP00000386161:R309L|ENSP00000299644:V152F	R|V	+|+	2|1	0|0	WWOX|WWOX	77024020|77024020	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.462000|0.462000	0.32619|0.32619	9.476000|9.476000	0.97823|0.97823	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.532	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			T	78466519	G	T	78466519	3	4	93	1	0	0	0	0	1	0	0	0	17419	1145	40	4	1018	4	WWOX	16	78466519	Missense_Mutation	SNP	G	TCGA-AK-3428-01A-02D-1361-10	48581851	78466519	11888234	58	6184											
GLP2R	9340	hgsc.bcm.edu;ucsc.edu	37	17	9745863	9745863	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr17:9745863C>T	ENST00000262441.5	+	4	947	c.434C>T	c.(433-435)aCg>aTg	p.T145M	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	145					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACTTGGCAGACGATAGAGAAC	0.522																																																0													144	114	125					17																	9745863		2203	4300	6503	SO:0001583	missense	9340			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.434C>T	17.37:g.9745863C>T	ENSP00000262441:p.Thr145Met		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627123	0.28978	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.63913	-0.07	5.06	0.712	0.18167	GPCR, family 2, extracellular hormone receptor domain (2);	0.617651	0.13467	N	0.385709	T	0.43787	0.1263	L	0.38838	1.175	0.19575	N	0.999965	P	0.42039	0.769	B	0.36186	0.219	T	0.21280	-1.0250	10	0.33141	T	0.24	.	5.9187	0.19070	0.2691:0.5812:0.0:0.1497	.	145	O95838	GLP2R_HUMAN	M	145;120;145	ENSP00000262441:T145M	ENSP00000262441:T145M	T	+	2	0	GLP2R	9686588	0.036000	0.19791	0.133000	0.22050	0.884000	0.51177	0.277000	0.18734	0.028000	0.15324	0.655000	0.94253	ACG		0.522	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			T	9745863	C	T	9745863	3	4	93	1	0	0	0	0	1	0	0	0	6455	536	19	1	448	1	GLP2R	17	9745863	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10		9745863	71449347	59	6185											
TRIM16	10626	hgsc.bcm.edu	37	17	15539426	15539426	+	Missense_Mutation	SNP	C	C	T	rs200176122		TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr17:15539426C>T	ENST00000578237.1	-	8	1628	c.773G>A	c.(772-774)aGg>aAg	p.R258K	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.R258K|TRIM16_ENST00000581224.1_5'Flank|TRIM16_ENST00000416464.2_Missense_Mutation_p.R128K|TRIM16_ENST00000579219.1_Missense_Mutation_p.R42K|TRIM16_ENST00000577886.1_Missense_Mutation_p.R42K|TRIM16_ENST00000336708.7_Missense_Mutation_p.R258K			O95361	TRI16_HUMAN	tripartite motif containing 16	258					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CTCGGCACTCCTGTACTCCAG	0.597																																																0													127	103	111					17																	15539426		2188	4298	6486	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.773G>A	17.37:g.15539426C>T	ENSP00000463188:p.Arg258Lys		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	CCDS11171.1	28|28	0.01282051282051282|0.01282051282051282	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	24|24	0.0316622691292876|0.0316622691292876	c|c	11.63|11.63	1.694498|1.694498	0.30052|0.30052	.|.	.|.	ENSG00000251537|ENSG00000221926	ENST00000455584|ENST00000336708;ENST00000416464	.|T;T	.|0.65916	.|0.11;-0.18	3.97|3.97	3.0|3.0	0.34707|0.34707	.|.	.|0.204791	.|0.37053	.|U	.|0.002275	T|T	0.17195|0.17195	0.0413|0.0413	L|L	0.27053|0.27053	0.805|0.805	0.25712|0.25712	N|N	0.985473|0.985473	.|B;B;B	.|0.29805	.|0.257;0.072;0.023	.|B;B;B	.|0.23574	.|0.043;0.047;0.028	T|T	0.02646|0.02646	-1.1129|-1.1129	5|10	.|0.20519	.|T	.|0.43	.|.	5.3947|5.3947	0.16263|0.16263	0.0:0.7753:0.0:0.2247|0.0:0.7753:0.0:0.2247	.|.	.|128;258;272	.|B3KP96;O95361;Q59EB2	.|.;TRI16_HUMAN;.	R|K	273|258;128	.|ENSP00000338989:R258K;ENSP00000399918:R128K	.|ENSP00000338989:R258K	G|R	-|-	1|2	0|0	RP11-385D13.1|TRIM16	15480151|15480151	0.991000|0.991000	0.36638|0.36638	0.941000|0.941000	0.38009|0.38009	0.717000|0.717000	0.41224|0.41224	1.626000|1.626000	0.37039|0.37039	2.230000|2.230000	0.72887|0.72887	0.555000|0.555000	0.69702|0.69702	GGA|AGG		0.597	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		T	15539426	C	T	15539426	3	4	93	1	0	0	0	0	1	0	0	0	16496	681	24	2	937	2	TRIM16	17	15539426	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	5793563	15539426	65655784	60	6186											
FLII	2314	hgsc.bcm.edu;ucsc.edu	37	17	18156764	18156764	+	Silent	SNP	A	A	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr17:18156764A>T	ENST00000327031.4	-	9	1089	c.864T>A	c.(862-864)atT>atA	p.I288I	FLII_ENST00000379450.4_Silent_p.I203I|FLII_ENST00000579294.1_Silent_p.I277I|FLII_ENST00000578558.1_Silent_p.I288I|FLII_ENST00000545457.2_Silent_p.I234I|FLII_ENST00000584444.1_5'UTR	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	288	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCAGCTTGCAAATGGCTGACT	0.607																																																0													66	67	67					17																	18156764		2203	4300	6503	SO:0001819	synonymous_variant	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.864T>A	17.37:g.18156764A>T			B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	CCDS11192.1																																																																																				0.607	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		T	18156764	A	T	18156764	2	4	93	1	0	0	0	0	0	0	0	1	5927	10	1	5		5	FLII	17	18156764	Silent	SNP	A	TCGA-AK-3428-01A-02D-1361-10	2617338	18156764	63038446	61	6187											
ELP2	55250	hgsc.bcm.edu	37	18	33709981	33709981	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr18:33709981A>T	ENST00000358232.6	+	1	148	c.85A>T	c.(85-87)Aga>Tga	p.R29*	ELP2_ENST00000442325.2_Nonsense_Mutation_p.R29*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.R29*|ELP2_ENST00000350494.6_Nonsense_Mutation_p.R29*|SLC39A6_ENST00000440549.2_5'Flank|SLC39A6_ENST00000269187.5_5'Flank|SLC39A6_ENST00000590986.1_5'Flank|ELP2_ENST00000351393.6_Nonsense_Mutation_p.R29*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.R29*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	29					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						CTCTGGGCCCAGAGGACTTCT	0.612																																																0													73	68	70					18																	33709981		2203	4300	6503	SO:0001587	stop_gained	55250			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.85A>T	18.37:g.33709981A>T	ENSP00000350967:p.Arg29*		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Nonsense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	A	37	6.372657	0.97515	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	5.61	2.78	0.32641	.	0.345530	0.33875	N	0.004464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-1.1365	5.4679	0.16654	0.1836:0.1639:0.6526:0.0	.	.	.	.	X	29	.	ENSP00000316051:R29X	R	+	1	2	ELP2	31963979	0.960000	0.32886	0.985000	0.45067	0.939000	0.58152	1.682000	0.37628	0.283000	0.22279	-0.472000	0.04984	AGA		0.612	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		T	33709981	A	T	33709981	4	4	93	1	0	0	0	0	0	1	0	0	5082	180	7	5	87	5	ELP2	18	33709981	Nonsense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10		33709981	44367267	62	6188											
SH3GL1	6455	hgsc.bcm.edu	37	19	4363421	4363421	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr19:4363421T>C	ENST00000269886.3	-	7	852	c.674A>G	c.(673-675)tAc>tGc	p.Y225C	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Missense_Mutation_p.Y161C|SH3GL1_ENST00000417295.2_Missense_Mutation_p.Y177C	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	225	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with ARC. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CTGCCGGTGGTAGTCCAGCTG	0.657			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													32	26	28					19																	4363421		2202	4299	6501	SO:0001583	missense	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.674A>G	19.37:g.4363421T>C	ENSP00000269886:p.Tyr225Cys		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	19.45	3.830410	0.71258	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.57436	0.4;0.4	4.67	4.67	0.58626	BAR (3);	0.000000	0.85682	U	0.000000	T	0.77831	0.4189	M	0.92833	3.35	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83622	0.0140	10	0.87932	D	0	-29.1884	13.2607	0.60102	0.0:0.0:0.0:1.0	.	177;225;225	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	C	225;177	ENSP00000269886:Y225C;ENSP00000404568:Y177C	ENSP00000269886:Y225C	Y	-	2	0	SH3GL1	4314421	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	6.141000	0.71744	1.737000	0.51674	0.454000	0.30748	TAC		0.657	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		C	4363421	T	C	4363421	3	2	93	1	0	0	0	0	1	0	0	0	14256	1638	57	3	448	3	SH3GL1	19	4363421	Missense_Mutation	SNP	T	TCGA-AK-3428-01A-02D-1361-10		4363421	54765562	63	6189											
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9074828	9074828	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr19:9074828C>T	ENST00000397910.4	-	3	12821	c.12618G>A	c.(12616-12618)atG>atA	p.M4206I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4208	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTATCCTCGACATGTCTGTGG	0.493																																																0													80	76	77					19																	9074828		1943	4152	6095	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12618G>A	19.37:g.9074828C>T	ENSP00000381008:p.Met4206Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.636	-0.074506	0.07184	.	.	ENSG00000181143	ENST00000397910	T	0.18810	2.19	1.31	-2.61	0.06171	.	.	.	.	.	T	0.05823	0.0152	N	0.01352	-0.895	.	.	.	B	0.15141	0.012	B	0.09377	0.004	T	0.29458	-1.0011	8	0.87932	D	0	.	2.5085	0.04651	0.4896:0.3178:0.0:0.1926	.	4206	B5ME49	.	I	4206	ENSP00000381008:M4206I	ENSP00000381008:M4206I	M	-	3	0	MUC16	8935828	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-1.653000	0.01986	-0.961000	0.03609	0.313000	0.20887	ATG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9074828	C	T	9074828	3	4	93	1	0	0	0	0	1	0	0	0	9975	478	17	2	31233	2	MUC16	19	9074828	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	4711407	9074828	50054155	64	6190											
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9091029	9091029	+	Silent	SNP	T	T	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr19:9091029T>C	ENST00000397910.4	-	1	989	c.786A>G	c.(784-786)ggA>ggG	p.G262G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	262	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAAGGGATATCCAGTGGTTG	0.448																																																0													129	130	130					19																	9091029		1951	4153	6104	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.786A>G	19.37:g.9091029T>C			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9091029	T	C	9091029	2	2	93	1	0	0	0	0	0	0	0	1	9975	1422	50	3		3	MUC16	19	9091029	Silent	SNP	T	TCGA-AK-3428-01A-02D-1361-10	16201	9091029	50037954	65	6191											
BRD4	23476	hgsc.bcm.edu;ucsc.edu	37	19	15360094	15360095	+	Intron	DEL	GG	GG	-			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr19:15360094_15360095delGG	ENST00000263377.2	-	12	2380				BRD4_ENST00000371835.4_Frame_Shift_Del_p.A722fs	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4						cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCAATGATTAGGCAGGACCTAC	0.46			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0																																										SO:0001627	intron_variant	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2159-4521CC>-	19.37:g.15360094_15360095delGG			O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Del	DEL	ENST00000263377.2	37	CCDS12328.1																																																																																				0.46	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		-	15360095	GG	-	15360094	6	5	93	0	1	1	0	1	0	0	0	0	1506	987	35	0		0	BRD4	19	15360094	Intron	DEL	GG	TCGA-AK-3428-01A-02D-1361-10	6269065	15360094	43768889	66	6192											
CYP4F11	57834	hgsc.bcm.edu	37	19	16035643	16035643	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr19:16035643A>C	ENST00000402119.4	-	5	1001	c.575T>G	c.(574-576)tTt>tGt	p.F192C	CYP4F11_ENST00000248041.8_Missense_Mutation_p.F192C|CYP4F11_ENST00000591841.1_Intron|CYP4F11_ENST00000326742.8_Missense_Mutation_p.F192C	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GATGTGTTCAAACATGTCCAG	0.532																																																0													91	77	82					19																	16035643		2203	4300	6503	SO:0001583	missense	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.575T>G	19.37:g.16035643A>C	ENSP00000384588:p.Phe192Cys			Missense_Mutation	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	a	11.85	1.762643	0.31228	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.69175	-0.38;-0.38;-0.38	2.84	1.79	0.24919	.	0.000000	0.64402	U	0.000001	T	0.76335	0.3973	M	0.87180	2.865	0.40676	D	0.982262	P;P	0.39624	0.681;0.566	P;P	0.52343	0.696;0.548	T	0.75172	-0.3411	10	0.87932	D	0	.	6.1617	0.20368	0.8638:0.0:0.1362:0.0	.	192;192	F8W978;Q9HBI6	.;CP4FB_HUMAN	C	192	ENSP00000384588:F192C;ENSP00000248041:F192C;ENSP00000319859:F192C	ENSP00000248041:F192C	F	-	2	0	CYP4F11	15896643	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.943000	0.87716	0.306000	0.22856	0.248000	0.18094	TTT		0.532	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		C	16035643	A	C	16035643	3	2	93	1	0	0	0	0	1	0	0	0	4188	14	1	5	1031	5	CYP4F11	19	16035643	Missense_Mutation	SNP	A	TCGA-AK-3428-01A-02D-1361-10	675549	16035643	43093340	67	6193											
PDE4C	5143	hgsc.bcm.edu	37	19	18329004	18329004	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr19:18329004C>T	ENST00000355502.3	-	15	2156	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	PDE4C_ENST00000262805.12_Missense_Mutation_p.D397N|PDE4C_ENST00000594617.3_Missense_Mutation_p.D429N|PDE4C_ENST00000447275.3_Missense_Mutation_p.D323N|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Missense_Mutation_p.D198N|PDE4C_ENST00000597297.1_Missense_Mutation_p.D199N|PDE4C_ENST00000594465.3_Missense_Mutation_p.D429N|PDE4C_ENST00000598111.2_Missense_Mutation_p.D144N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	429					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TGGTCCACGTCGTGGATGGCG	0.597																																																0													104	99	101					19																	18329004		2203	4300	6503	SO:0001583	missense	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1285G>A	19.37:g.18329004C>T	ENSP00000347689:p.Asp429Asn		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499830	0.64298	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	4.61	4.61	0.57282	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	H	0.98068	4.14	0.47214	D	0.999353	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.994;1.0	D	0.96993	0.9723	10	0.87932	D	0	.	14.9276	0.70890	0.0:1.0:0.0:0.0	.	429;397;235;144	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	N	508;429;417;397;323;235;143;198;538	ENSP00000347689:D429N;ENSP00000262805:D397N;ENSP00000402091:D323N;ENSP00000439470:D198N	ENSP00000262805:D397N	D	-	1	0	PDE4C	18190004	1.000000	0.71417	0.744000	0.31058	0.049000	0.14656	5.749000	0.68704	2.110000	0.64415	0.313000	0.20887	GAC		0.597	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			T	18329004	C	T	18329004	3	4	93	1	0	0	0	0	1	0	0	0	11643	884	31	1	873	1	PDE4C	19	18329004	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	2293361	18329004	40799979	68	6194											
MKKS	8195	hgsc.bcm.edu;ucsc.edu	37	20	10393758	10393758	+	Silent	SNP	G	G	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr20:10393758G>A	ENST00000347364.3	-	3	1167	c.405C>T	c.(403-405)acC>acT	p.T135T	MKKS_ENST00000399054.2_Silent_p.T135T	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	135					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						GACAACCACAGGTCTCAGACT	0.398																																					Melanoma(79;1979 2212 6640)											0													91	85	87					20																	10393758		2203	4300	6503	SO:0001819	synonymous_variant	8195			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"Heat Shock Proteins / Chaperonins"	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.405C>T	20.37:g.10393758G>A			A8K7B0|D3DW18	Silent	SNP	ENST00000347364.3	37	CCDS13111.1																																																																																				0.398	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			A	10393758	G	A	10393758	2	1	93	1	0	0	0	0	0	0	0	1	9602	987	35	2		2	MKKS	20	10393758	Silent	SNP	G	TCGA-AK-3428-01A-02D-1361-10		10393758	52631762	69	6195											
DHX35	60625	hgsc.bcm.edu	37	20	37597791	37597791	+	Silent	SNP	G	G	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr20:37597791G>T	ENST00000252011.3	+	2	141	c.108G>T	c.(106-108)acG>acT	p.T36T	DHX35_ENST00000373323.4_Silent_p.T36T|DHX35_ENST00000373325.2_Silent_p.T36T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	36					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.T36T(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGGGACAACGGTTGTTTACA	0.463																																																1	Substitution - coding silent(1)	lung(1)											85	68	74					20																	37597791		2203	4300	6503	SO:0001819	synonymous_variant	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.108G>T	20.37:g.37597791G>T			A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	CCDS13310.1																																																																																				0.463	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		T	37597791	G	T	37597791	2	4	93	1	0	0	0	0	0	0	0	1	4510	1103	39	4		4	DHX35	20	37597791	Silent	SNP	G	TCGA-AK-3428-01A-02D-1361-10	27204033	37597791	25427729	70	6196											
CHD6	84181	hgsc.bcm.edu;ucsc.edu	37	20	40081483	40081483	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr20:40081483C>G	ENST00000373233.3	-	21	3397	c.3220G>C	c.(3220-3222)Gac>Cac	p.D1074H	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1074					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCGTCTGAGTCGCTGTCTAAC	0.537																																																0													149	120	130					20																	40081483		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3220G>C	20.37:g.40081483C>G	ENSP00000362330:p.Asp1074His		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062628	0.93898	.	.	ENSG00000124177	ENST00000373233	D	0.85861	-2.04	5.0	5.0	0.66597	.	0.000000	0.56097	D	0.000025	D	0.92391	0.7585	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.93281	0.6660	10	0.87932	D	0	-22.7332	18.6801	0.91544	0.0:1.0:0.0:0.0	.	1074	Q8TD26	CHD6_HUMAN	H	1074	ENSP00000362330:D1074H	ENSP00000362330:D1074H	D	-	1	0	CHD6	39514897	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.489000	0.83994	0.591000	0.81541	GAC		0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			G	40081483	C	G	40081483	3	3	93	1	0	0	0	0	1	0	0	0	3331	884	31	4	4995	4	CHD6	20	40081483	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	2483692	40081483	22944037	71	6197											
EIF4ENIF1	56478	hgsc.bcm.edu;ucsc.edu	37	22	31851207	31851207	+	Silent	SNP	A	A	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr22:31851207A>T	ENST00000397525.1	-	9	1417	c.1194T>A	c.(1192-1194)atT>atA	p.I398I	EIF4ENIF1_ENST00000397523.1_Silent_p.I398I|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Silent_p.I235I|EIF4ENIF1_ENST00000330125.5_Silent_p.I398I|EIF4ENIF1_ENST00000382180.2_Silent_p.I77I	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	398						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCATTTCTAAAATATCCACTT	0.388																																																0													83	81	81					22																	31851207		2203	4300	6503	SO:0001819	synonymous_variant	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1194T>A	22.37:g.31851207A>T			B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	CCDS13898.1																																																																																				0.388	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		T	31851207	A	T	31851207	2	4	93	1	0	0	0	0	0	0	0	1	5037	10	1	5		5	EIF4ENIF1	22	31851207	Silent	SNP	A	TCGA-AK-3428-01A-02D-1361-10		31851207	19453359	72	6198											
EP300	2033	hgsc.bcm.edu;ucsc.edu	37	22	41536219	41536219	+	Silent	SNP	T	T	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr22:41536219T>C	ENST00000263253.7	+	9	3055	c.1836T>C	c.(1834-1836)gcT>gcC	p.A612A		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	612	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGCATATGCTCGGAAAGTTG	0.413			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													162	162	162					22																	41536219		2203	4300	6503	SO:0001819	synonymous_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1836T>C	22.37:g.41536219T>C			B1AKC2	Silent	SNP	ENST00000263253.7	37	CCDS14010.1																																																																																				0.413	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		C	41536219	T	C	41536219	2	2	93	1	0	0	0	0	0	0	0	1	5150	1538	54	3		3	EP300	22	41536219	Silent	SNP	T	TCGA-AK-3428-01A-02D-1361-10	9685012	41536219	9768347	73	6199											
TUBGCP6	85378	hgsc.bcm.edu;ucsc.edu	37	22	50665215	50665215	+	Silent	SNP	C	C	T			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chr22:50665215C>T	ENST00000248846.5	-	7	1652	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	TUBGCP6_ENST00000439308.2_Silent_p.E516E|TUBGCP6_ENST00000491449.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	516					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGGGTAGTGCTCGTTGCTGC	0.682																																																0													40	36	37					22																	50665215		2203	4294	6497	SO:0001819	synonymous_variant	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1548G>A	22.37:g.50665215C>T			Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	9.399	1.077414	0.20227	.	.	ENSG00000128159	ENST00000434349	.	.	.	5.59	-1.77	0.07982	.	.	.	.	.	T	0.57799	0.2078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56013	-0.8049	4	.	.	.	.	11.5768	0.50866	0.0:0.472:0.0:0.528	.	.	.	.	N	260	.	.	S	-	2	0	TUBGCP6	49007342	0.029000	0.19370	0.994000	0.49952	0.850000	0.48378	-0.695000	0.05109	-0.166000	0.10890	-0.254000	0.11334	AGC		0.682	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		T	50665215	C	T	50665215	2	4	93	1	0	0	0	0	0	0	0	1	16775	796	28	2		2	TUBGCP6	22	50665215	Silent	SNP	C	TCGA-AK-3428-01A-02D-1361-10	9128996	50665215	639351	74	6200											
EIF2S3	1968	hgsc.bcm.edu;ucsc.edu	37	X	24086218	24086218	+	Silent	SNP	T	T	C			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chrX:24086218T>C	ENST00000253039.4	+	9	1258	c.1005T>C	c.(1003-1005)ggT>ggC	p.G335G		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	335					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						CTCCAGGCGGTCTTATTGGTA	0.363																																																0													82	73	76					X																	24086218		2203	4300	6503	SO:0001819	synonymous_variant	1968			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.1005T>C	X.37:g.24086218T>C			B5BTZ4	Silent	SNP	ENST00000253039.4	37	CCDS14210.1																																																																																				0.363	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		C	24086218	T	C	24086218	2	2	93	1	0	0	0	0	0	0	0	1	5013	1654	58	3		3	EIF2S3	23	24086218	Silent	SNP	T	TCGA-AK-3428-01A-02D-1361-10		24086218	131184342	75	6201											
TRMT2B	79979	hgsc.bcm.edu;ucsc.edu	37	X	100265618	100265618	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chrX:100265618C>A	ENST00000372936.3	-	14	2239	c.1467G>T	c.(1465-1467)ttG>ttT	p.L489F	TRMT2B_ENST00000372935.1_Missense_Mutation_p.L489F|TRMT2B_ENST00000372939.1_Missense_Mutation_p.L444F|TRMT2B_ENST00000338687.7_Missense_Mutation_p.L444F|TRMT2B_ENST00000545398.1_Missense_Mutation_p.L489F	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	489						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGTGAGGGAACAAATCCACAG	0.498																																																0													114	95	102					X																	100265618		2203	4300	6503	SO:0001583	missense	79979			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"chromosome X open reading frame 34"	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1467G>T	X.37:g.100265618C>A	ENSP00000362027:p.Leu489Phe		A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684254	0.47991	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936	T;T;T;T;T	0.50001	0.78;0.76;0.78;0.76;0.76	4.39	2.46	0.29980	.	0.253384	0.34507	N	0.003920	T	0.57504	0.2058	M	0.66297	2.02	0.80722	D	1	D;P	0.64830	0.994;0.942	P;P	0.62298	0.9;0.643	T	0.57849	-0.7740	10	0.87932	D	0	-14.065	5.9778	0.19391	0.1879:0.7033:0.0:0.1088	.	444;489	Q96GJ1-3;Q96GJ1	.;TRM2_HUMAN	F	444;489;444;489;489	ENSP00000340970:L444F;ENSP00000438134:L489F;ENSP00000362030:L444F;ENSP00000362026:L489F;ENSP00000362027:L489F	ENSP00000340970:L444F	L	-	3	2	TRMT2B	100152274	1.000000	0.71417	0.988000	0.46212	0.529000	0.34654	1.682000	0.37628	0.804000	0.34136	0.600000	0.82982	TTG		0.498	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		A	100265618	C	A	100265618	3	1	93	1	0	0	0	0	1	0	0	0	16571	477	17	4	51	4	TRMT2B	23	100265618	Missense_Mutation	SNP	C	TCGA-AK-3428-01A-02D-1361-10	76179400	100265618	55004942	76	6202											
COL4A5	1287	hgsc.bcm.edu;ucsc.edu	37	X	107930860	107930860	+	Silent	SNP	G	G	A			TCGA-AK-3428-01A-02D-1361-10	TCGA-AK-3428-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6fc3e193-399a-4434-9aef-8eab73ad7b4d	621bf83f-cd42-415e-92df-6f77ac4ccbbc	g.chrX:107930860G>A	ENST00000361603.2	+	47	4690	c.4446G>A	c.(4444-4446)caG>caA	p.Q1482Q	COL4A5_ENST00000328300.6_Silent_p.Q1488Q	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1482	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAACACTTCAGGTCTATGAAG	0.478									Alport syndrome with Diffuse Leiomyomatosis																																							0													128	121	123					X																	107930860		2203	4300	6503	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4446G>A	X.37:g.107930860G>A			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	3.705	-0.060777	0.07317	.	.	ENSG00000188153	ENST00000515658	.	.	.	5.58	0.344	0.16006	.	.	.	.	.	T	0.21674	0.0522	.	.	.	0.20403	N	0.999907	.	.	.	.	.	.	T	0.23691	-1.0181	4	.	.	.	.	2.6332	0.04950	0.1268:0.1229:0.3906:0.3597	.	.	.	.	K	87	.	.	R	+	2	0	COL4A5	107817516	0.233000	0.23772	0.215000	0.23724	0.700000	0.40528	0.339000	0.19875	-0.125000	0.11703	0.600000	0.82982	AGG		0.478	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			A	107930860	G	A	107930860	2	1	93	1	0	0	0	0	0	0	0	1	3696	991	35	2		2	COL4A5	23	107930860	Silent	SNP	G	TCGA-AK-3428-01A-02D-1361-10	7665242	107930860	47339700	77	6203											
DVL1	1855	broad.mit.edu	37	1	1275427	1275427	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:1275427C>A	ENST00000378888.5	-	8	1184	c.900G>T	c.(898-900)atG>atT	p.M300I	DVL1_ENST00000378891.5_Missense_Mutation_p.M300I			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	300	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)	p.M300I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCTGCAGCAACATGTCGCCGG	0.672																																																1	Substitution - Missense(1)	kidney(1)											35	42	40					1																	1275427		2203	4297	6500	SO:0001583	missense	1855			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.900G>T	1.37:g.1275427C>A	ENSP00000368166:p.Met300Ile		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37		.	.	.	.	.	.	.	.	.	.	C	16.34	3.095593	0.56075	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.25579	1.79;1.79	3.43	3.43	0.39272	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.36672	1.1	0.80722	D	1	P;P	0.45531	0.86;0.605	P;P	0.58721	0.844;0.6	T	0.35748	-0.9776	10	0.87932	D	0	.	15.4663	0.75403	0.0:1.0:0.0:0.0	.	300;300	O14640;O14640-2	DVL1_HUMAN;.	I	300	ENSP00000368169:M300I;ENSP00000368166:M300I	ENSP00000368166:M300I	M	-	3	0	DVL1	1265290	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	7.483000	0.81158	1.933000	0.56026	0.456000	0.33151	ATG		0.672	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		A	1275427	C	A	1275427	3	1	94	1	0	0	0	0	1	0	0	0	4837	478	17	4	1144	4	DVL1	1	1275427	Missense_Mutation	SNP	C	TCGA-AK-3429-01A-02D-1386-10		1275427	247975194	1	6204											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu	37	1	11319454	11319454	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:11319454C>G	ENST00000361445.4	-	2	89	c.13G>C	c.(13-15)Gga>Cga	p.G5R		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	5	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.G5R(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCGGCAGGTCCGGTTCCAAGC	0.507																																																1	Substitution - Missense(1)	kidney(1)											97	103	101					1																	11319454		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.13G>C	1.37:g.11319454C>G	ENSP00000354558:p.Gly5Arg		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284306	0.40394	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.08008	3.14	4.85	3.93	0.45458	.	0.847959	0.10550	N	0.661569	T	0.07863	0.0197	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22626	-1.0211	10	0.66056	D	0.02	-5.3438	6.81	0.23799	0.0:0.8416:0.0:0.1584	.	5	P42345	MTOR_HUMAN	R	5	ENSP00000354558:G5R	ENSP00000354558:G5R	G	-	1	0	MTOR	11242041	0.218000	0.23608	0.207000	0.23584	0.596000	0.36781	2.052000	0.41316	2.685000	0.91497	0.655000	0.94253	GGA		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11319454	C	G	11319454	3	3	94	1	0	0	0	0	1	0	0	0	9956	661	23	4	7864	4	MTOR	1	11319454	Missense_Mutation	SNP	C	TCGA-AK-3429-01A-02D-1386-10	10044027	11319454	237931167	2	6205											
PRAMEF6	440561	broad.mit.edu	37	1	13001258	13001258	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:13001258C>T	ENST00000376189.1	-	3	524	c.425G>A	c.(424-426)aGa>aAa	p.R142K	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.R142K	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	142					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)			p.R142K(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		CTGCTGTCCTCTCATCCTTGG	0.507																																																1	Substitution - Missense(1)	kidney(1)											247	472	392					1																	13001258		1507	2707	4214	SO:0001583	missense	440561				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"-"	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.425G>A	1.37:g.13001258C>T	ENSP00000365360:p.Arg142Lys		A0AUJ9	Missense_Mutation	SNP	ENST00000376189.1	37	CCDS30594.1	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.474415	0.01044	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.05258	3.47;3.47;3.47	1.28	-2.57	0.06248	.	2.960340	0.00963	N	0.003123	T	0.04998	0.0134	L	0.31294	0.92	0.09310	N	1	B	0.33238	0.403	B	0.37989	0.262	T	0.27262	-1.0079	10	0.07482	T	0.82	.	2.3627	0.04311	0.4962:0.2938:0.0:0.21	.	142	Q5VXH4	PRAM6_HUMAN	K	142	ENSP00000365360:R142K;ENSP00000401281:R142K;ENSP00000347211:R142K	ENSP00000347211:R142K	R	-	2	0	PRAMEF6	12923845	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.907000	0.28531	-1.189000	0.02702	0.386000	0.25728	AGA		0.507	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001010889		T	13001258	C	T	13001258	3	4	94	1	0	0	0	0	1	0	0	0	12443	913	32	2	1013	2	PRAMEF6	1	13001258	Missense_Mutation	SNP	C	TCGA-AK-3429-01A-02D-1386-10	1681804	13001258	236249363	3	6206											
PRDM2	7799	hgsc.bcm.edu	37	1	14075880	14075880	+	Silent	SNP	C	C	T	rs75417771	byFrequency	TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:14075880C>T	ENST00000235372.7	+	6	1265	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	PRDM2_ENST00000413440.1_5'Flank|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Silent_p.L137L|PRDM2_ENST00000343137.4_5'Flank|PRDM2_ENST00000311066.5_Silent_p.L137L|PRDM2_ENST00000503842.1_5'Flank|PRDM2_ENST00000505823.1_5'Flank	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	137	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CGAGGAGCTCCTGGTCTGGTA	0.677													c|||	38	0.00758786	0.0023	0.0086	5008	,	,		5142	0.0		0.0258	False		,,,				2504	0.0031															0									,,,	14,4370		0,14,2178	15	18	17		,409,409,409	3.7	1	1	dbSNP_131	17	170,8410		1,168,4121	no	utr-5,coding-synonymous,coding-synonymous,coding-synonymous	PRDM2	NM_001007257.2,NM_001135610.1,NM_012231.4,NM_015866.4	,,,	1,182,6299	TT,TC,CC		1.9814,0.3193,1.4193	,,,	,137/227,137/1719,137/1683	14075880	184,12780	2192	4290	6482	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.409C>T	1.37:g.14075880C>T			B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																				0.677	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		T	14075880	C	T	14075880	2	4	94	1	0	0	0	0	0	0	0	1	12463	680	24	2		2	PRDM2	1	14075880	Silent	SNP	C	TCGA-AK-3429-01A-02D-1386-10	1074622	14075880	235174741	4	6207											
DEM1	64789	broad.mit.edu;ucsc.edu	37	1	40980259	40980259	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr1:40980259T>G	ENST00000372703.1	+	2	1117	c.43T>G	c.(43-45)Tca>Gca	p.S15A	RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.S15A|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.S15A|EXO5_ENST00000471429.1_3'UTR			Q9H790	EXO5_HUMAN	exonuclease 5	15					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)	p.S15A(1)									AGCAGAAGCCTCAGGGTTCTC	0.488																																																1	Substitution - Missense(1)	kidney(1)											97	108	104					1																	40980259		2203	4300	6503	SO:0001583	missense	0			AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)"	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.43T>G	1.37:g.40980259T>G	ENSP00000361788:p.Ser15Ala		D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	CCDS453.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145583	0.37923	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000420209;ENST00000296380;ENST00000432259;ENST00000418186;ENST00000415550;ENST00000443729;ENST00000419161	T;T;T;T;T;T;T;T	0.47869	1.45;1.45;1.47;1.45;1.46;0.83;1.45;1.45	4.53	4.53	0.55603	.	0.355601	0.20005	N	0.101256	T	0.51719	0.1691	L	0.29908	0.895	0.30208	N	0.798016	D	0.58970	0.984	D	0.68192	0.956	T	0.45877	-0.9231	10	0.27785	T	0.31	-1.5694	10.5457	0.45058	0.0:0.0:0.0:1.0	.	15	Q9H790	EXO5_HUMAN	A	15	ENSP00000351328:S15A;ENSP00000361788:S15A;ENSP00000398437:S15A;ENSP00000296380:S15A;ENSP00000391240:S15A;ENSP00000413565:S15A;ENSP00000409715:S15A;ENSP00000392115:S15A	ENSP00000296380:S15A	S	+	1	0	DEM1	40752846	0.910000	0.30920	0.959000	0.39883	0.906000	0.53458	1.898000	0.39809	2.270000	0.75569	0.528000	0.53228	TCA		0.488	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		G	40980259	T	G	40980259	3	3	94	1	0	0	0	0	1	0	0	0	4427	1551	54	5	45	5	DEM1	1	40980259	Missense_Mutation	SNP	T	TCGA-AK-3429-01A-02D-1386-10	26904379	40980259	208270362	5	6208											
NAB1	4664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191524231	191524231	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr2:191524231C>T	ENST00000337386.5	+	4	790	c.329C>T	c.(328-330)tCc>tTc	p.S110F	NAB1_ENST00000409581.1_Missense_Mutation_p.S110F|NAB1_ENST00000357215.5_Missense_Mutation_p.S110F|NAB1_ENST00000409641.1_Missense_Mutation_p.S110F|NAB1_ENST00000545490.1_5'Flank	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	110					endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S110F(1)		kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CTGGGAATATCCTGCAGTAGT	0.488																																																1	Substitution - Missense(1)	kidney(1)											52	54	53					2																	191524231		2203	4300	6503	SO:0001583	missense	4664				CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"EGR1 binding protein 1"	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.329C>T	2.37:g.191524231C>T	ENSP00000336894:p.Ser110Phe		O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	CCDS2307.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395539	0.42512	.	.	ENSG00000138386	ENST00000448811;ENST00000416973;ENST00000409581;ENST00000337386;ENST00000357215;ENST00000423076;ENST00000409641	.	.	.	5.51	5.51	0.81932	.	0.567297	0.18267	N	0.146444	T	0.46229	0.1382	N	0.14661	0.345	0.80722	D	1	P;B;B	0.34826	0.471;0.198;0.198	B;B;B	0.41917	0.37;0.062;0.062	T	0.35276	-0.9795	9	0.25751	T	0.34	-4.0023	13.5338	0.61638	0.1555:0.8445:0.0:0.0	.	110;110;110	F8W8J7;B8ZZS2;Q13506	.;.;NAB1_HUMAN	F	110;110;110;110;110;58;110	.	ENSP00000336894:S110F	S	+	2	0	NAB1	191232476	0.908000	0.30866	0.984000	0.44739	0.997000	0.91878	2.703000	0.47110	2.873000	0.98535	0.561000	0.74099	TCC		0.488	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		T	191524231	C	T	191524231	3	4	94	1	0	0	0	0	1	0	0	0	10133	855	30	2	331	2	NAB1	2	191524231	Missense_Mutation	SNP	C	TCGA-AK-3429-01A-02D-1386-10		191524231	51675142	6	6209											
GATA2	2624	broad.mit.edu	37	3	128205185	128205185	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr3:128205185delG	ENST00000341105.2	-	3	587	c.256delC	c.(256-258)cgcfs	p.R86fs	GATA2_ENST00000487848.1_Frame_Shift_Del_p.R86fs|GATA2_ENST00000430265.2_Frame_Shift_Del_p.R86fs|RP11-475N22.4_ENST00000468377.1_RNA|RP11-475N22.4_ENST00000473958.1_RNA|RP11-475N22.4_ENST00000464242.1_RNA	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	86					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AAGTGTGGGCGGCACATCTGG	0.667			Mis		AML(CML blast transformation)																																		Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													11	15	14					3																	128205185		2189	4271	6460	SO:0001589	frameshift_variant	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.256delC	3.37:g.128205185delG	ENSP00000345681:p.Arg86fs		D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Frame_Shift_Del	DEL	ENST00000341105.2	37	CCDS3049.1																																																																																				0.667	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		-	128205185	G	-	128205185	7	5	94	1	0	1	0	1	0	0	0	0	6256	1116	39	0	1202	0	GATA2	3	128205185	Frame_Shift_Del	DEL	G	TCGA-AK-3429-01A-02D-1386-10		128205185	69817245	7	6210											
XRN1	54464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142037709	142037709	+	Silent	SNP	A	A	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr3:142037709A>G	ENST00000264951.4	-	38	4555	c.4438T>C	c.(4438-4440)Tta>Cta	p.L1480L	XRN1_ENST00000392981.2_Silent_p.L1481L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1480					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L1480L(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGTACCAGTAAGCCATTAGAT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											92	90	90					3																	142037709		2203	4300	6503	SO:0001819	synonymous_variant	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4438T>C	3.37:g.142037709A>G			Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	CCDS3123.1																																																																																				0.388	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		G	142037709	A	G	142037709	2	3	94	1	0	0	0	0	0	0	0	1	17464	69	3	3		3	XRN1	3	142037709	Silent	SNP	A	TCGA-AK-3429-01A-02D-1386-10	13832524	142037709	55984721	8	6211											
TRPC7	57113	broad.mit.edu;hgsc.bcm.edu	37	5	135692564	135692564	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr5:135692564G>A	ENST00000513104.1	-	2	794	c.512C>T	c.(511-513)gCg>gTg	p.A171V	TRPC7_ENST00000426057.2_Missense_Mutation_p.A171V|TRPC7_ENST00000355180.3_Missense_Mutation_p.A171V	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	171					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A171V(4)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGTGCGCCGCCAGGATGAT	0.632																																																4	Substitution - Missense(4)	large_intestine(2)|kidney(2)											129	140	136					5																	135692564		2203	4300	6503	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.512C>T	5.37:g.135692564G>A	ENSP00000426070:p.Ala171Val		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	34	5.374382	0.95923	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	D;D;D	0.87491	-2.26;-2.26;-2.26	5.26	5.26	0.73747	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.95101	0.8413	M	0.91818	3.245	0.47949	D	0.999559	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.97;1.0;0.995;0.998	D	0.95713	0.8759	10	0.87932	D	0	-17.8179	19.0783	0.93171	0.0:0.0:1.0:0.0	.	171;171;171;171	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	V	171	ENSP00000347312:A171V;ENSP00000441628:A171V;ENSP00000426070:A171V	ENSP00000265193:A171V	A	-	2	0	TRPC7	135720463	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.657000	0.98554	2.731000	0.93534	0.650000	0.86243	GCG		0.632	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		A	135692564	G	A	135692564	3	1	94	1	0	0	0	0	1	0	0	0	16589	1087	38	1	2120	1	TRPC7	5	135692564	Missense_Mutation	SNP	G	TCGA-AK-3429-01A-02D-1386-10		135692564	45222696	9	6212											
SGK1	6446	hgsc.bcm.edu;ucsc.edu	37	6	134495942	134495943	+	Start_Codon_Del	DEL	TC	TC	-			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr6:134495942_134495943delTC	ENST00000237305.7	-	0	91_92				SGK1_ENST00000475719.2_Start_Codon_Del|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000367857.5_5'UTR|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000413996.3_Intron	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GTTTTCACCGTCATCACCACCG	0.589																																																0																																										SO:0001582	initiator_codon_variant	6446			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613		6.37:g.134495942_134495943delTC			B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Frame_Shift_Del	DEL	ENST00000237305.7	37	CCDS5170.1																																																																																				0.589	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			-	134495943	TC	-	134495942	7	5	94	1	0	1	0	1	0	0	0	0	14213	1667	58	0	1339	0	SGK1	6	134495942	Start_Codon_Del	DEL	TC	TCGA-AK-3429-01A-02D-1386-10		134495942	36619125	10	6213											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82580448	82580448	+	Silent	SNP	C	C	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr7:82580448C>T	ENST00000333891.9	-	6	9793	c.9456G>A	c.(9454-9456)acG>acA	p.T3152T	PCLO_ENST00000423517.2_Silent_p.T3152T|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T3152T(3)|p.T3083T(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCAATGTCCGTTTCAGATG	0.428																																																5	Substitution - coding silent(5)	kidney(3)|large_intestine(2)											57	54	55					7																	82580448		1945	4172	6117	SO:0001819	synonymous_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9456G>A	7.37:g.82580448C>T				Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82580448	C	T	82580448	2	4	94	1	0	0	0	0	0	0	0	1	11585	639	23	1		1	PCLO	7	82580448	Silent	SNP	C	TCGA-AK-3429-01A-02D-1386-10		82580448	76558215	11	6214											
ANGPT1	284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	108334357	108334357	+	Splice_Site	SNP	C	C	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr8:108334357C>G	ENST00000520734.1	-	3	261		c.e3-1		ANGPT1_ENST00000518386.1_5'Flank|ANGPT1_ENST00000520052.1_Splice_Site			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.?(2)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCTAATAAACTACAAGGAAG	0.294																																																2	Unknown(2)	ovary(1)|kidney(1)											77	73	74					8																	108334357		2203	4300	6503	SO:0001630	splice_region_variant	284			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.25-1G>C	8.37:g.108334357C>G			Q5HYA0	Splice_Site	SNP	ENST00000520734.1	37		.	.	.	.	.	.	.	.	.	.	C	16.61	3.171316	0.57584	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820	.	.	.	5.77	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5463	0.68032	0.0:0.93:0.0:0.07	.	.	.	.	.	-1	.	.	.	-	.	.	ANGPT1	108403533	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	7.174000	0.77620	1.443000	0.47586	0.655000	0.94253	.		0.294	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290	Intron	G	108334357	C	G	108334357	5	3	94	1	0	0	0	0	0	0	1	0	610	579	20	4	945	4	ANGPT1	8	108334357	Splice_Site	SNP	C	TCGA-AK-3429-01A-02D-1386-10		108334357	38029665	12	6215											
RECQL4	113655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145737152	145737152	+	IGR	SNP	C	C	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr8:145737152C>A	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.Q1138H|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.Q1138H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCAGCGGACCTGGTCCTCCC	0.642																																																1	Substitution - Missense(1)	kidney(1)											60	71	67					8																	145737152		2180	4273	6453	SO:0001628	intergenic_variant	9401				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737152C>A				Missense_Mutation	SNP	ENST00000301327.4	37	CCDS6431.1																																																																																				0.642	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		A	145737152	C	A	145737152	1	1	94	0	1	0	0	0	0	0	0	0	13208	680	24	4		4	RECQL4	8	145737152	IGR	SNP	C	TCGA-AK-3429-01A-02D-1386-10	37402795	145737152	626870	13	6216											
C9orf93	203238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	15777711	15777711	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr9:15777711A>G	ENST00000380701.3	+	19	3113	c.2785A>G	c.(2785-2787)Agg>Ggg	p.R929G	RNU6-14P_ENST00000384630.1_RNA|CCDC171_ENST00000297641.3_Missense_Mutation_p.R929G	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	929								p.R196G(1)|p.R929G(1)									GCACAGTAGCAGGAGTATTAC	0.408																																																2	Substitution - Missense(2)	kidney(2)											81	83	82					9																	15777711		2203	4300	6503	SO:0001583	missense	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2785A>G	9.37:g.15777711A>G	ENSP00000370077:p.Arg929Gly		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556712	0.27827	.	.	ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701	T;T	0.15256	2.44;2.44	5.32	-0.347	0.12617	.	0.209862	0.48286	D	0.000189	T	0.11110	0.0271	L	0.29908	0.895	0.09310	N	1	B;B;B	0.18310	0.027;0.016;0.027	B;B;B	0.26416	0.069;0.031;0.069	T	0.33854	-0.9852	10	0.22109	T	0.4	-3.0898	9.8272	0.40919	0.392:0.4936:0.0:0.1144	.	937;196;929	B7ZM22;A6NK04;Q6TFL3	.;.;CI093_HUMAN	G	929;196;929	ENSP00000297641:R929G;ENSP00000370077:R929G	ENSP00000297641:R929G	R	+	1	2	C9orf93	15767711	0.877000	0.30153	0.227000	0.23927	0.973000	0.67179	0.920000	0.28705	0.002000	0.14630	0.528000	0.53228	AGG		0.408	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		G	15777711	A	G	15777711	3	3	94	1	0	0	0	0	1	0	0	0	2508	179	7	3	2855	3	C9orf93	9	15777711	Missense_Mutation	SNP	A	TCGA-AK-3429-01A-02D-1386-10		15777711	125435720	14	6217											
DBC1	1620	broad.mit.edu;hgsc.bcm.edu	37	9	121929960	121929960	+	Missense_Mutation	SNP	T	T	A	rs200320353		TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr9:121929960T>A	ENST00000265922.3	-	8	2149	c.1688A>T	c.(1687-1689)tAt>tTt	p.Y563F	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	563					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.Y563F(1)									GGGGTTGACATAGACAAAGAA	0.557																																																1	Substitution - Missense(1)	kidney(1)											42	41	42					9																	121929960		2203	4300	6503	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1688A>T	9.37:g.121929960T>A	ENSP00000265922:p.Tyr563Phe		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693890	0.68386	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.16743	2.32	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	L	0.48642	1.525	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.02339	-1.1174	10	0.62326	D	0.03	-13.623	15.8802	0.79197	0.0:0.0:0.0:1.0	.	563	O60477	DBC1_HUMAN	F	563	ENSP00000265922:Y563F	ENSP00000265922:Y563F	Y	-	2	0	DBC1	120969781	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.109000	0.71528	2.145000	0.66743	0.533000	0.62120	TAT		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		A	121929960	T	A	121929960	3	1	94	1	0	0	0	0	1	0	0	0	4249	1406	49	5	601	5	DBC1	9	121929960	Missense_Mutation	SNP	T	TCGA-AK-3429-01A-02D-1386-10	106152249	121929960	19283471	15	6218											
C11orf57	55216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111946306	111946306	+	Missense_Mutation	SNP	G	G	A	rs200897426		TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr11:111946306G>A	ENST00000280352.9	+	2	644	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	PIH1D2_ENST00000521853.2_5'Flank|C11orf57_ENST00000530104.1_Missense_Mutation_p.R3Q|PIH1D2_ENST00000431456.1_5'Flank|C11orf57_ENST00000420986.2_Missense_Mutation_p.R3Q|PIH1D2_ENST00000528775.1_5'Flank|PIH1D2_ENST00000530641.1_5'Flank|PIH1D2_ENST00000532211.1_5'Flank|C11orf57_ENST00000532163.1_5'UTR|PIH1D2_ENST00000280350.4_5'Flank|C11orf57_ENST00000393047.3_Missense_Mutation_p.R3Q	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	3								p.R3Q(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGAATGTCCCGGATTCCACTG	0.388																																																1	Substitution - Missense(1)	kidney(1)						G	GLN/ARG,GLN/ARG,GLN/ARG	0,3716		0,0,1858	76	70	72		8,8,8	5.2	1	11		72	2,8192		0,2,4095	yes	missense,missense,missense	C11orf57	NM_001082969.1,NM_001082970.1,NM_018195.3	43,43,43	0,2,5953	AA,AG,GG		0.0244,0.0,0.0168	probably-damaging,probably-damaging,probably-damaging	3/294,3/293,3/294	111946306	2,11908	1858	4097	5955	SO:0001583	missense	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.8G>A	11.37:g.111946306G>A	ENSP00000339076:p.Arg3Gln		Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	ENST00000280352.9	37	CCDS41715.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582380	0.65992	0.0	2.44E-4	ENSG00000150776	ENST00000420986;ENST00000280352;ENST00000530104;ENST00000526879;ENST00000393047	.	.	.	6.08	5.16	0.70880	.	0.091438	0.42172	U	0.000757	T	0.36193	0.0958	M	0.61703	1.905	0.31309	N	0.687414	P;P;P	0.48350	0.909;0.681;0.681	B;B;B	0.33960	0.116;0.173;0.173	T	0.57585	-0.7786	9	0.66056	D	0.02	-0.649	12.9907	0.58616	0.1265:0.0:0.8735:0.0	.	3;3;3	E9PLE3;Q6ZUT1-2;Q6ZUT1	.;.;CK057_HUMAN	Q	3	.	ENSP00000339076:R3Q	R	+	2	0	C11orf57	111451516	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.610000	0.61155	2.894000	0.99253	0.591000	0.81541	CGG		0.388	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195		A	111946306	G	A	111946306	3	1	94	1	0	0	0	0	1	0	0	0	1652	1116	39	1	10	1	C11orf57	11	111946306	Missense_Mutation	SNP	G	TCGA-AK-3429-01A-02D-1386-10		111946306	23060210	16	6219											
NOP2	4839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6669891	6669891	+	Silent	SNP	G	G	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr12:6669891G>T	ENST00000322166.5	-	13	1531	c.1410C>A	c.(1408-1410)tcC>tcA	p.S470S	NOP2_ENST00000541778.1_Silent_p.S466S|NOP2_ENST00000545200.1_Silent_p.S466S|NOP2_ENST00000382421.3_Silent_p.S503S|NOP2_ENST00000399466.2_Silent_p.S466S|NOP2_ENST00000537442.1_Silent_p.S470S|NOP2_ENST00000542015.1_5'UTR	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	470					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.S466S(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTGGATCCTTGGAGATGACCC	0.557																																																1	Substitution - coding silent(1)	kidney(1)											30	34	32					12																	6669891		2072	4214	6286	SO:0001819	synonymous_variant	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1410C>A	12.37:g.6669891G>T			A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Silent	SNP	ENST00000322166.5	37	CCDS58203.1																																																																																				0.557	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		T	6669891	G	T	6669891	2	4	94	1	0	0	0	0	0	0	0	1	10540	1335	47	4		4	NOP2	12	6669891	Silent	SNP	G	TCGA-AK-3429-01A-02D-1386-10		6669891	127182004	17	6220											
NCOR2	9612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124841254	124841254	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr12:124841254G>A	ENST00000405201.1	-	23	3175	c.3175C>T	c.(3175-3177)Ccc>Tcc	p.P1059S	NCOR2_ENST00000397355.1_Missense_Mutation_p.P1050S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1049S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1049S|NCOR2_ENST00000356219.3_Missense_Mutation_p.P1066S|NCOR2_ENST00000404121.2_Missense_Mutation_p.P620S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1067					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.P1066S(1)|p.P1059S(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACCTCACGGGGGGGCACGGGG	0.667																																																2	Substitution - Missense(2)	kidney(2)											14	18	17					12																	124841254		1893	4099	5992	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3175C>T	12.37:g.124841254G>A	ENSP00000384018:p.Pro1059Ser		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	6.309	0.425061	0.11987	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.35236	2.13;2.38;2.12;2.38;2.13;2.38;1.32	4.88	2.71	0.32032	.	0.194880	0.46145	D	0.000310	T	0.16128	0.0388	N	0.14661	0.345	0.23043	N	0.998384	B;B;B	0.30236	0.184;0.274;0.234	B;B;B	0.20184	0.017;0.026;0.028	T	0.09596	-1.0667	10	0.45353	T	0.12	-10.846	3.7715	0.08643	0.2069:0.0:0.5648:0.2283	.	1049;1050;1059	C9J0Q5;C9J239;C9JFD3	.;.;.	S	1059;1049;1066;1050;1058;620;1049;1067	ENSP00000384018:P1059S;ENSP00000384202:P1049S;ENSP00000348551:P1066S;ENSP00000380513:P1050S;ENSP00000385618:P620S;ENSP00000400281:P1049S;ENSP00000402808:P1067S	ENSP00000348551:P1066S	P	-	1	0	NCOR2	123407207	0.998000	0.40836	0.604000	0.28916	0.557000	0.35523	1.639000	0.37176	1.029000	0.39812	-0.314000	0.08810	CCC		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		A	124841254	G	A	124841254	3	1	94	1	0	0	0	0	1	0	0	0	10238	1232	43	2	4469	2	NCOR2	12	124841254	Missense_Mutation	SNP	G	TCGA-AK-3429-01A-02D-1386-10	118171363	124841254	9010641	18	6221											
ATP12A	479	broad.mit.edu;ucsc.edu	37	13	25276072	25276072	+	Splice_Site	SNP	G	G	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr13:25276072G>T	ENST00000381946.3	+	14	2048		c.e14-1		ATP12A_ENST00000218548.6_Splice_Site|RNY1P7_ENST00000384743.1_RNA			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide						ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.?(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CTTTGCTCTAGGTTATTATGG	0.483																																					Pancreas(156;1582 1935 18898 22665 26498)											1	Unknown(1)	kidney(1)											219	198	205					13																	25276072		2203	4300	6503	SO:0001630	splice_region_variant	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1882-1G>T	13.37:g.25276072G>T			Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Splice_Site	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844314	0.51164	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.6	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9275	0.63972	0.0:0.0:0.8467:0.1533	.	.	.	.	.	-1	.	.	.	+	.	.	ATP12A	24174072	1.000000	0.71417	0.868000	0.34077	0.491000	0.33493	7.788000	0.85771	1.468000	0.48064	0.563000	0.77884	.		0.483	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	Intron	T	25276072	G	T	25276072	5	4	94	1	0	0	0	0	0	0	1	0	1122	1014	35	4	1953	4	ATP12A	13	25276072	Splice_Site	SNP	G	TCGA-AK-3429-01A-02D-1386-10		25276072	89893806	19	6222											
FLT3	2322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	28608527	28608527	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr13:28608527G>T	ENST00000241453.7	-	13	1696	c.1615C>A	c.(1615-1617)Caa>Aaa	p.Q539K	FLT3_ENST00000537084.1_Missense_Mutation_p.Q539K|FLT3_ENST00000380982.4_Missense_Mutation_p.Q539K	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	539					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Q539K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTTGTCTTGGATGAAAGGG	0.383			"Mis, O"		"AML, ALL"																																		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Substitution - Missense(1)	kidney(1)											91	85	87					13																	28608527		2203	4300	6503	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1615C>A	13.37:g.28608527G>T	ENSP00000241453:p.Gln539Lys		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902013	0.52227	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77358	-1.02;-1.09;-0.81	5.56	5.56	0.83823	.	0.100234	0.44285	D	0.000464	T	0.68815	0.3042	L	0.47716	1.5	0.29506	N	0.854555	B;B	0.31968	0.244;0.349	B;B	0.29267	0.067;0.1	T	0.61302	-0.7090	10	0.05436	T	0.98	.	17.7205	0.88350	0.0:0.0:1.0:0.0	.	539;539	P36888-2;P36888	.;FLT3_HUMAN	K	539	ENSP00000241453:Q539K;ENSP00000370369:Q539K;ENSP00000438139:Q539K	ENSP00000241453:Q539K	Q	-	1	0	FLT3	27506527	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.433000	0.52834	2.609000	0.88269	0.655000	0.94253	CAA		0.383	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			T	28608527	G	T	28608527	3	4	94	1	0	0	0	0	1	0	0	0	5944	1357	47	4	1414	4	FLT3	13	28608527	Missense_Mutation	SNP	G	TCGA-AK-3429-01A-02D-1386-10	3332455	28608527	86561351	20	6223											
HERC2	8924	broad.mit.edu;ucsc.edu	37	15	28446698	28446698	+	Silent	SNP	A	A	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr15:28446698A>G	ENST00000261609.7	-	48	7728	c.7620T>C	c.(7618-7620)tcT>tcC	p.S2540S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.S2540S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCACCAGTAGACTGCAAGA	0.333																																																1	Substitution - coding silent(1)	kidney(1)											94	88	90					15																	28446698		2203	4300	6503	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7620T>C	15.37:g.28446698A>G				Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.333	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28446698	A	G	28446698	2	3	94	1	0	0	0	0	0	0	0	1	7060	407	15	3		3	HERC2	15	28446698	Silent	SNP	A	TCGA-AK-3429-01A-02D-1386-10		28446698	74084694	21	6224											
UBR1	197131	broad.mit.edu;ucsc.edu	37	15	43299453	43299453	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr15:43299453A>C	ENST00000290650.4	-	30	3317	c.3239T>G	c.(3238-3240)aTt>aGt	p.I1080S	UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1080					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I1080S(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCCAAAGCAATTCTAGAGTA	0.418																																																1	Substitution - Missense(1)	kidney(1)											74	67	69					15																	43299453		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3239T>G	15.37:g.43299453A>C	ENSP00000290650:p.Ile1080Ser		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399387	0.62177	.	.	ENSG00000159459	ENST00000290650	T	0.44881	0.91	4.99	4.99	0.66335	.	0.292265	0.37857	N	0.001920	T	0.35422	0.0931	L	0.47716	1.5	0.80722	D	1	P	0.38250	0.624	B	0.35727	0.209	T	0.11842	-1.0571	10	0.18710	T	0.47	-13.9487	14.8455	0.70257	1.0:0.0:0.0:0.0	.	1080	Q8IWV7	UBR1_HUMAN	S	1080	ENSP00000290650:I1080S	ENSP00000290650:I1080S	I	-	2	0	UBR1	41086745	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.963000	0.76055	2.096000	0.63516	0.533000	0.62120	ATT		0.418	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		C	43299453	A	C	43299453	3	2	94	1	0	0	0	0	1	0	0	0	16906	101	4	5	2082	5	UBR1	15	43299453	Missense_Mutation	SNP	A	TCGA-AK-3429-01A-02D-1386-10	14852755	43299453	59231939	22	6225											
SYNM	23336	broad.mit.edu;ucsc.edu	37	15	99670374	99670374	+	Silent	SNP	T	T	C			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr15:99670374T>C	ENST00000560674.1	+	4	1420	c.951T>C	c.(949-951)gcT>gcC	p.A317A	SYNM_ENST00000336292.6_Silent_p.A602A|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.A602A|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	603	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.A602A(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGAAGGATGCTGGTGGTGGGA	0.552																																					Pancreas(125;1071 1762 21750 40003 40381)											2	Substitution - coding silent(2)	kidney(2)											61	62	62					15																	99670374		2016	4185	6201	SO:0001819	synonymous_variant	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.951T>C	15.37:g.99670374T>C			A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37																																																																																					0.552	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		C	99670374	T	C	99670374	2	2	94	1	0	0	0	0	0	0	0	1	15460	1567	55	3		3	SYNM	15	99670374	Silent	SNP	T	TCGA-AK-3429-01A-02D-1386-10	56370921	99670374	2861018	23	6226											
RUNDC2A	92017	broad.mit.edu;ucsc.edu	37	16	12142415	12142415	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr16:12142415T>C	ENST00000566228.1	+	7	755	c.686T>C	c.(685-687)aTc>aCc	p.I229T	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	229						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.I229T(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCCGTCTCCATCCTCATCAAA	0.577																																																1	Substitution - Missense(1)	kidney(1)											125	117	120					16																	12142415		2197	4300	6497	SO:0001583	missense	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.686T>C	16.37:g.12142415T>C	ENSP00000456480:p.Ile229Thr		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775205	0.70107	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.51	5.51	0.81932	.	0.128181	0.52532	D	0.000078	T	0.56411	0.1983	L	0.46741	1.465	0.80722	D	1	.	.	.	.	.	.	T	0.50684	-0.8799	7	0.08837	T	0.75	-20.2989	14.4616	0.67453	0.0:0.0:0.0:1.0	.	.	.	.	T	229	.	ENSP00000268271:I229T	I	+	2	0	RUNDC2A	12049916	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.836000	0.62789	2.090000	0.63153	0.460000	0.39030	ATC		0.577	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			C	12142415	T	C	12142415	3	2	94	1	0	0	0	0	1	0	0	0	13749	1435	50	3	712	3	RUNDC2A	16	12142415	Missense_Mutation	SNP	T	TCGA-AK-3429-01A-02D-1386-10		12142415	78212338	24	6227											
METT10D	79066	broad.mit.edu;hgsc.bcm.edu	37	17	2323872	2323872	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr17:2323872G>A	ENST00000263092.6	-	10	1208	c.1081C>T	c.(1081-1083)Ccc>Tcc	p.P361S	METTL16_ENST00000538844.1_Missense_Mutation_p.P143S|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	361							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.P361S(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TTTCCACAGGGAACTCGTTTA	0.408																																																2	Substitution - Missense(2)	kidney(2)											58	58	58					17																	2323872		1839	4085	5924	SO:0001583	missense	0			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"methyltransferase 10 domain containing"	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1081C>T	17.37:g.2323872G>A	ENSP00000263092:p.Pro361Ser		D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698616	0.68501	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.48522	0.93;0.81	5.64	4.68	0.58851	.	0.096535	0.64402	N	0.000001	T	0.45836	0.1362	L	0.57536	1.79	0.58432	D	0.999999	B	0.29988	0.264	B	0.32533	0.147	T	0.42361	-0.9456	10	0.42905	T	0.14	-3.5727	12.2384	0.54528	0.0823:0.0:0.9177:0.0	.	361	Q86W50	MET16_HUMAN	S	361;41;143	ENSP00000263092:P361S;ENSP00000443633:P143S	ENSP00000263092:P361S	P	-	1	0	METTL16	2270622	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.447000	0.97595	1.381000	0.46364	0.655000	0.94253	CCC		0.408	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		A	2323872	G	A	2323872	3	1	94	1	0	0	0	0	1	0	0	0	9492	1174	41	2	611	2	METT10D	17	2323872	Missense_Mutation	SNP	G	TCGA-AK-3429-01A-02D-1386-10		2323872	78871338	25	6228											
ADNP2	22850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	77894266	77894266	+	Missense_Mutation	SNP	C	C	A	rs571198421		TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr18:77894266C>A	ENST00000262198.4	+	4	1425	c.970C>A	c.(970-972)Cct>Act	p.P324T		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	324	Pro-rich.				cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P324T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCATTCCCCCCCTGCTGCTGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											68	68	68					18																	77894266		2203	4300	6503	SO:0001583	missense	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.970C>A	18.37:g.77894266C>A	ENSP00000262198:p.Pro324Thr		A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	4.306	0.055996	0.08291	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.42	1.62	0.23740	.	0.190603	0.35585	N	0.003108	T	0.21186	0.0510	L	0.29908	0.895	0.09310	N	1	P	0.38827	0.649	B	0.39258	0.295	T	0.08046	-1.0741	8	.	.	.	-11.4696	3.1484	0.06479	0.1251:0.554:0.1209:0.2	.	324	Q6IQ32	ADNP2_HUMAN	T	324	.	.	P	+	1	0	ADNP2	75995257	0.494000	0.26043	0.000000	0.03702	0.007000	0.05969	1.534000	0.36051	0.118000	0.18165	-0.133000	0.14855	CCT		0.627	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		A	77894266	C	A	77894266	3	1	94	1	0	0	0	0	1	0	0	0	324	623	22	4	980	4	ADNP2	18	77894266	Missense_Mutation	SNP	C	TCGA-AK-3429-01A-02D-1386-10		77894266	182982	26	6229											
LRRC8E	80131	broad.mit.edu	37	19	7964517	7964517	+	Silent	SNP	C	C	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr19:7964517C>T	ENST00000306708.6	+	3	1211	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	370					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I370I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGCACCTCATCGATCAGTACG	0.577																																																1	Substitution - coding silent(1)	kidney(1)											103	76	85					19																	7964517		2203	4300	6503	SO:0001819	synonymous_variant	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1110C>T	19.37:g.7964517C>T			B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	CCDS12189.1																																																																																				0.577	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		T	7964517	C	T	7964517	2	4	94	1	0	0	0	0	0	0	0	1	9027	874	31	1		1	LRRC8E	19	7964517	Silent	SNP	C	TCGA-AK-3429-01A-02D-1386-10		7964517	51164466	27	6230											
DDA1	79016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17425185	17425185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr19:17425185C>A	ENST00000359866.4	+	3	247	c.123C>A	c.(121-123)taC>taA	p.Y41*		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	41								p.Y41*(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCCGCGAGTACCCGTCTGAAC	0.617																																																1	Substitution - Nonsense(1)	kidney(1)											102	80	87					19																	17425185		2203	4300	6503	SO:0001587	stop_gained	79016			BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 58"	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.123C>A	19.37:g.17425185C>A	ENSP00000352928:p.Tyr41*			Nonsense_Mutation	SNP	ENST00000359866.4	37	CCDS12357.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110582	0.77210	.	.	ENSG00000130311	ENST00000359866	.	.	.	4.69	3.42	0.39159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8439	11.0233	0.47730	0.0:0.8894:0.0:0.1106	.	.	.	.	X	41	.	ENSP00000352928:Y41X	Y	+	3	2	DDA1	17286185	0.973000	0.33851	0.988000	0.46212	0.495000	0.33615	0.135000	0.15952	2.157000	0.67596	0.561000	0.74099	TAC		0.617	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050		A	17425185	C	A	17425185	4	1	94	1	0	0	0	0	0	1	0	0	4322	518	18	4	133	4	DDA1	19	17425185	Nonsense_Mutation	SNP	C	TCGA-AK-3429-01A-02D-1386-10	9460668	17425185	41703798	28	6231											
ZNF43	7594	broad.mit.edu	37	19	21992038	21992038	+	Silent	SNP	A	A	G			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr19:21992038A>G	ENST00000354959.4	-	4	970	c.801T>C	c.(799-801)ttT>ttC	p.F267F	ZNF43_ENST00000595461.1_Silent_p.F261F|ZNF43_ENST00000594012.1_Silent_p.F261F|ZNF43_ENST00000598381.1_Silent_p.F261F	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F267F(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGGACTTGTTAAAAGCTTTGC	0.348																																																1	Substitution - coding silent(1)	kidney(1)											54	59	57					19																	21992038		2202	4298	6500	SO:0001819	synonymous_variant	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.801T>C	19.37:g.21992038A>G			A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																				0.348	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		G	21992038	A	G	21992038	2	3	94	1	0	0	0	0	0	0	0	1	17908	359	13	3		3	ZNF43	19	21992038	Silent	SNP	A	TCGA-AK-3429-01A-02D-1386-10	4566853	21992038	37136945	29	6232											
PCK1	5105	hgsc.bcm.edu;ucsc.edu	37	20	56138155	56138157	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	ATC	ATC	ATC	-	ATC	ATC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chr20:56138155_56138157delATC	ENST00000319441.4	+	5	846_848	c.682_684delATC	c.(682-684)atcdel	p.I229del	PCK1_ENST00000535860.1_In_Frame_Del_p.I97del|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	229					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.I228S(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCGCAGAGAGATCATCTCCTTTG	0.616																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001651	inframe_deletion	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.682_684delATC	20.37:g.56138158_56138160delATC	ENSP00000319814:p.Ile229del		A8K437|B4DT64|Q8TCA3|Q9UJD2	In_Frame_Del	DEL	ENST00000319441.4	37	CCDS13460.1																																																																																				0.616	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			-	56138157	ATC	-	56138155	7	5	94	1	0	1	0	1	0	0	0	0	11583	333	12	0	696	0	PCK1	20	56138155	In_Frame_Del	DEL	ATC	TCGA-AK-3429-01A-02D-1386-10		56138155	6887365	30	6233											
FAM3A	60343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153736831	153736831	+	Silent	SNP	C	C	T			TCGA-AK-3429-01A-02D-1386-10	TCGA-AK-3429-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fa51dce9-2101-4af7-9280-4bad56b6848e	e287ef35-f81a-4d6f-a4d7-13871b8bf821	g.chrX:153736831C>T	ENST00000447601.2	-	4	715	c.249G>A	c.(247-249)ggG>ggA	p.G83G	FAM3A_ENST00000369641.3_Silent_p.G83G|FAM3A_ENST00000369643.1_Silent_p.G83G|FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000359889.5_Silent_p.G83G|FAM3A_ENST00000434658.2_Silent_p.G83G|FAM3A_ENST00000393572.1_Silent_p.G45G	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	83						extracellular region (GO:0005576)		p.G83G(1)		kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATCTTGGGCCCAATGACGT	0.667																																																1	Substitution - coding silent(1)	kidney(1)											53	38	43					X																	153736831		2203	4300	6503	SO:0001819	synonymous_variant	60343			X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.249G>A	X.37:g.153736831C>T			A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Silent	SNP	ENST00000447601.2	37	CCDS35453.1																																																																																				0.667	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2			T	153736831	C	T	153736831	2	4	94	1	0	0	0	0	0	0	0	1	5558	726	26	2		2	FAM3A	23	153736831	Silent	SNP	C	TCGA-AK-3429-01A-02D-1386-10		153736831	1533729	31	6234											
KIAA1751	85452	broad.mit.edu;ucsc.edu	37	1	1919956	1919956	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr1:1919956C>A	ENST00000434971.2	-	4	323	c.291G>T	c.(289-291)aaG>aaT	p.K97N				Q69YW0	CA222_HUMAN		0								p.K97N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCACCTCATCTTCTCAGTGA	0.587																																																2	Substitution - Missense(2)	kidney(2)											87	91	90					1																	1919956		2084	4225	6309	SO:0001583	missense	85452																														ENST00000434971.2:c.291G>T	1.37:g.1919956C>A	ENSP00000408078:p.Lys97Asn			Missense_Mutation	SNP	ENST00000434971.2	37		.	.	.	.	.	.	.	.	.	.	C	10.31	1.315088	0.23908	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	T;T	0.62498	0.02;0.05	3.89	-2.12	0.07165	.	0.082857	0.45867	D	0.000325	T	0.68705	0.3030	M	0.67953	2.075	0.20764	N	0.999859	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.59958	-0.7356	10	0.66056	D	0.02	-17.8513	4.7183	0.12906	0.0:0.4279:0.1807:0.3914	.	97;97	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	N	97;88;97	ENSP00000367853:K88N;ENSP00000408078:K97N	ENSP00000270720:K97N	K	-	3	2	C1orf222	1909816	0.019000	0.18553	0.048000	0.18961	0.124000	0.20399	-0.510000	0.06328	-0.514000	0.06488	-0.391000	0.06502	AAG		0.587	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				A	1919956	C	A	1919956	3	1	95	1	0	0	0	0	1	0	0	0	8258	912	32	4	2057	4	KIAA1751	1	1919956	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10		1919956	247330665	1	6235											
NBPF1	55672	broad.mit.edu;hgsc.bcm.edu	37	1	16913638	16913638	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr1:16913638T>G	ENST00000430580.2	-	11	1572	c.685A>C	c.(685-687)Atc>Ctc	p.I229L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	229	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCAAAGGTGATGTTGATGTTC	0.463																																																0													411	371	384					1																	16913638		2195	4294	6489	SO:0001583	missense	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.685A>C	1.37:g.16913638T>G	ENSP00000474456:p.Ile229Leu		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37																																																																																					0.463	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		G	16913638	T	G	16913638	3	3	95	1	0	0	0	0	1	0	0	0	10194	1464	51	5	2815	5	NBPF1	1	16913638	Missense_Mutation	SNP	T	TCGA-AK-3430-01A-01D-1251-10	14993682	16913638	232336983	2	6236											
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19499967	19499967	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr1:19499967C>A	ENST00000375254.3	-	23	3158	c.3131G>T	c.(3130-3132)cGg>cTg	p.R1044L	UBR4_ENST00000375226.2_Missense_Mutation_p.R1044L|UBR4_ENST00000375267.2_Missense_Mutation_p.R1044L|UBR4_ENST00000375217.2_Missense_Mutation_p.R1044L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1044					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1044L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GATCCGGAGCCGAGAAGACCA	0.443																																																1	Substitution - Missense(1)	kidney(1)											74	71	72					1																	19499967		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3131G>T	1.37:g.19499967C>A	ENSP00000364403:p.Arg1044Leu		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105494	0.94245	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	L	0.54323	1.7	0.80722	D	1	D	0.60160	0.987	D	0.67725	0.953	T	0.62793	-0.6779	10	0.87932	D	0	.	19.1194	0.93357	0.0:1.0:0.0:0.0	.	1044	Q5T4S7	UBR4_HUMAN	L	1044;1044;1044;1044;260	ENSP00000364403:R1044L;ENSP00000364416:R1044L;ENSP00000364365:R1044L;ENSP00000364374:R1044L	ENSP00000364365:R1044L	R	-	2	0	UBR4	19372554	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.484000	0.81180	2.605000	0.88082	0.655000	0.94253	CGG		0.443	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19499967	C	A	19499967	3	1	95	1	0	0	0	0	1	0	0	0	16909	652	23	4	12756	4	UBR4	1	19499967	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	2586329	19499967	229750654	3	6237											
ZCCHC17	51538	hgsc.bcm.edu;ucsc.edu	37	1	31836865	31836884	+	Splice_Site	DEL	AATTTTCTTTTCAGGAGAAG	AATTTTCTTTTCAGGAGAAG	-	rs576307561		TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	AATTTTCTTTTCAGGAGAAG	AATTTTCTTTTCAGGAGAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr1:31836865_31836884delAATTTTCTTTTCAGGAGAAG	ENST00000373714.1	+	8	825_831	c.564_570delAATTTTCTTTTCAGGAGAAG	c.(562-570)aaaattttc>aa	p.KIF188fs	ZCCHC17_ENST00000422613.2_Splice_Site_p.KIF190fs|ZCCHC17_ENST00000344147.5_Splice_Site_p.KIF188fs|FABP3_ENST00000497275.1_5'Flank|ZCCHC17_ENST00000546109.1_Splice_Site_p.KIF180fs	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	188	Lys-rich.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TGATTTTTAAAATTTTCTTTTCAGGAGAAGAAGAAAAAGA	0.395																																																0																																										SO:0001630	splice_region_variant	51538			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.565-1AATTTTCTTTTCAGGAGAAG>-	1.37:g.31836865_31836884delAATTTTCTTTTCAGGAGAAG			B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Frame_Shift_Del	DEL	ENST00000373714.1	37	CCDS341.1																																																																																				0.395	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505	Frame_Shift_Del	-	31836884	AATTTTCTTTTCAGGAGAAG	-	31836865	8	5	95	1	0	1	0	1	0	0	1	0	17590	29	1	0		0	ZCCHC17	1	31836865	Splice_Site	DEL	AATTTTCTTTTCAGGAGAAG	TCGA-AK-3430-01A-01D-1251-10	12336898	31836865	217413756	4	6238											
SGIP1	84251	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	67147913	67147913	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr1:67147913delT	ENST00000371037.4	+	15	1253	c.1176delT	c.(1174-1176)gatfs	p.D392fs	SGIP1_ENST00000237247.6_Frame_Shift_Del_p.D396fs|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	392	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTAAAGATGATTACTTAGAAA	0.512																																																0													77	87	84					1																	67147913		2203	4300	6503	SO:0001589	frameshift_variant	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1176delT	1.37:g.67147913delT	ENSP00000360076:p.Asp392fs		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Frame_Shift_Del	DEL	ENST00000371037.4	37	CCDS30744.1																																																																																				0.512	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		-	67147913	T	-	67147913	7	5	95	1	0	1	0	1	0	0	0	0	14212	1490	52	0	1234	0	SGIP1	1	67147913	Frame_Shift_Del	DEL	T	TCGA-AK-3430-01A-01D-1251-10	35311048	67147913	182102708	5	6239											
WDR77	79084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111990200	111990200	+	Splice_Site	SNP	T	T	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr1:111990200T>A	ENST00000235090.5	-	3	508		c.e3-2		ATP5F1_ENST00000483994.1_5'Flank|WDR77_ENST00000497278.1_5'Flank|Y_RNA_ENST00000363020.1_RNA|WDR77_ENST00000411751.2_Intron|ATP5F1_ENST00000369722.3_5'Flank	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.?(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAACAGCACCTGTTGGGGGTA	0.403																																																1	Unknown(1)	kidney(1)											109	93	98					1																	111990200		2203	4300	6503	SO:0001630	splice_region_variant	79084			BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"WD repeat domain containing"	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.302-2A>T	1.37:g.111990200T>A			B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Splice_Site	SNP	ENST00000235090.5	37	CCDS835.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113973	0.77210	.	.	ENSG00000116455	ENST00000235090;ENST00000449340	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7264	0.77763	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR77	111791723	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.387000	0.79785	2.202000	0.70862	0.379000	0.24179	.		0.403	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102	Intron	A	111990200	T	A	111990200	5	1	95	1	0	0	0	0	0	0	1	0	17332	1594	55	5	760	5	WDR77	1	111990200	Splice_Site	SNP	T	TCGA-AK-3430-01A-01D-1251-10	44842287	111990200	137260421	6	6240											
ROBLD3	28956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156025137	156025137	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr1:156025137A>C	ENST00000368305.4	+	2	290	c.152A>C	c.(151-153)aAc>aCc	p.N51T	LAMTOR2_ENST00000368304.5_Missense_Mutation_p.N51T|LAMTOR2_ENST00000489664.1_3'UTR|LAMTOR2_ENST00000368302.3_Missense_Mutation_p.N51T|UBQLN4_ENST00000368309.3_5'Flank|UBQLN4_ENST00000472638.1_5'Flank	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	51					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)		p.N51T(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						ATAGCCAGTAACATCTGGGCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											98	100	99					1																	156025137		2203	4300	6503	SO:0001583	missense	0			BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"mitogen activated protein binding protein interacting protein", "MAPKSP1 adaptor protein", "endosomal adaptor protein"	610389	"roadblock domain containing 3"	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.152A>C	1.37:g.156025137A>C	ENSP00000357288:p.Asn51Thr		Q5VY97|Q5VY98|Q5VY99	Missense_Mutation	SNP	ENST00000368305.4	37	CCDS1128.1	.	.	.	.	.	.	.	.	.	.	A	34	5.312518	0.95655	.	.	ENSG00000116586	ENST00000368305;ENST00000368304;ENST00000368302	T;T;T	0.20738	2.05;2.05;2.05	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	M	0.85945	2.785	0.80722	D	1	P;P	0.45827	0.47;0.867	P;P	0.56278	0.524;0.795	T	0.36286	-0.9754	10	0.72032	D	0.01	-15.5034	14.8012	0.69916	1.0:0.0:0.0:0.0	.	51;51	Q5VY98;Q9Y2Q5	.;LTOR2_HUMAN	T	51	ENSP00000357288:N51T;ENSP00000357287:N51T;ENSP00000357285:N51T	ENSP00000357285:N51T	N	+	2	0	LAMTOR2	154291761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.677000	0.91203	2.170000	0.68504	0.533000	0.62120	AAC		0.577	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046197.1	NM_014017		C	156025137	A	C	156025137	3	2	95	1	0	0	0	0	1	0	0	0	13518	43	2	5	158	5	ROBLD3	1	156025137	Missense_Mutation	SNP	A	TCGA-AK-3430-01A-01D-1251-10	44034937	156025137	93225484	7	6241											
TDRD5	163589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	179620176	179620176	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr1:179620176G>C	ENST00000367614.1	+	12	2334	c.1975G>C	c.(1975-1977)Gta>Cta	p.V659L	TDRD5_ENST00000444136.1_Missense_Mutation_p.V659L|TDRD5_ENST00000294848.8_Missense_Mutation_p.V659L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	659					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.V659L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCATGCTATTGTATGCCGAGA	0.338																																																1	Substitution - Missense(1)	kidney(1)											133	125	128					1																	179620176		2203	4300	6503	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1975G>C	1.37:g.179620176G>C	ENSP00000356586:p.Val659Leu		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771104	0.69992	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.32023	2.72;2.72;2.9;1.47	5.91	5.0	0.66597	.	0.990599	0.08217	N	0.979820	T	0.44265	0.1285	L	0.57536	1.79	0.27096	N	0.96272	D;P	0.56521	0.976;0.915	P;P	0.59012	0.85;0.542	T	0.15492	-1.0435	10	0.11485	T	0.65	-16.8825	9.0627	0.36444	0.1648:0.0:0.8352:0.0	.	659;659	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	L	659;659;659;115	ENSP00000356586:V659L;ENSP00000294848:V659L;ENSP00000406052:V659L;ENSP00000410744:V115L	ENSP00000294848:V659L	V	+	1	0	TDRD5	177886799	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.925000	0.48884	1.500000	0.48636	0.655000	0.94253	GTA		0.338	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		C	179620176	G	C	179620176	3	2	95	1	0	0	0	0	1	0	0	0	15738	1377	48	4	2017	4	TDRD5	1	179620176	Missense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	23595039	179620176	69630445	8	6242											
PTPRC	5788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	198723495	198723495	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr1:198723495G>T	ENST00000367376.2	+	32	3772	c.3601G>T	c.(3601-3603)Gct>Tct	p.A1201S	PTPRC_ENST00000348564.6_Missense_Mutation_p.A1042S|PTPRC_ENST00000442510.2_Missense_Mutation_p.A1203S|PTPRC_ENST00000594404.1_Missense_Mutation_p.A1040S|PTPRC_ENST00000352140.3_Missense_Mutation_p.A1153S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1201	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1201S(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGTGGTAAAAGCTCTACGCAA	0.388																																																1	Substitution - Missense(1)	kidney(1)											128	127	127					1																	198723495		2203	4300	6503	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3601G>T	1.37:g.198723495G>T	ENSP00000356346:p.Ala1201Ser		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	G	2.753	-0.259619	0.05791	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.82893	-1.66	6.02	3.69	0.42338	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.307027	0.23698	N	0.045443	T	0.60248	0.2254	N	0.02916	-0.46	0.27843	N	0.941048	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.15052	0.012;0.012;0.012	T	0.42699	-0.9436	10	0.02654	T	1	.	14.0661	0.64831	0.0:0.0:0.477:0.523	.	1042;1153;1201	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	S	1203;1153;1201;1040	ENSP00000193532:A1153S	ENSP00000306782:A1040S	A	+	1	0	PTPRC	196990118	1.000000	0.71417	0.918000	0.36340	0.950000	0.60333	1.432000	0.34936	0.518000	0.28383	-1.075000	0.02238	GCT		0.388	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	198723495	G	T	198723495	3	4	95	1	0	0	0	0	1	0	0	0	12803	971	34	4	3734	4	PTPRC	1	198723495	Missense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	19103319	198723495	50527126	9	6243											
USH2A	7399	hgsc.bcm.edu;ucsc.edu	37	1	215823997	215823998	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr1:215823997_215823998insT	ENST00000307340.3	-	65	14665_14666	c.14279_14280insA	c.(14278-14280)aagfs	p.K4760fs	USH2A_ENST00000366943.2_Frame_Shift_Ins_p.K4760fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4760	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCCGTTGGGCTTCCCAGGGGC	0.584										HNSCC(13;0.011)																																						0																																										SO:0001589	frameshift_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14280dupA	1.37:g.215823999_215823999dupT	ENSP00000305941:p.Lys4760fs		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Ins	INS	ENST00000307340.3	37	CCDS31025.1																																																																																				0.584	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215823998	-	T	215823997	7	5	95	1	0	1	1	0	0	0	0	0	17041	796	28	0	1360	0	USH2A	1	215823997	Frame_Shift_Ins	INS	-	TCGA-AK-3430-01A-01D-1251-10	17100502	215823997	33426624	10	6244											
ITSN2	50618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	24469086	24469086	+	Silent	SNP	A	A	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr2:24469086A>G	ENST00000355123.4	-	29	3932	c.3489T>C	c.(3487-3489)gaT>gaC	p.D1163D	ITSN2_ENST00000361999.3_Silent_p.D1136D|ITSN2_ENST00000406921.3_Silent_p.D1163D	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1163	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.D1162D(1)|p.D1163D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGCCACCAATCAGGATCAT	0.413																																																2	Substitution - coding silent(2)	kidney(2)											174	153	160					2																	24469086		2203	4300	6503	SO:0001819	synonymous_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3489T>C	2.37:g.24469086A>G			O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	A	9.416	1.081828	0.20309	.	.	ENSG00000198399	ENST00000416160	.	.	.	5.59	2.76	0.32466	.	.	.	.	.	T	0.56366	0.1980	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50734	-0.8793	4	.	.	.	.	8.0511	0.30579	0.3832:0.0:0.6168:0.0	.	.	.	.	T	91	.	.	I	-	2	0	ITSN2	24322590	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.927000	0.28818	0.817000	0.34445	-0.456000	0.05471	ATT		0.413	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		G	24469086	A	G	24469086	2	3	95	1	0	0	0	0	0	0	0	1	7929	98	4	3		3	ITSN2	2	24469086	Silent	SNP	A	TCGA-AK-3430-01A-01D-1251-10		24469086	218730287	11	6245											
ITGB6	3694	broad.mit.edu;ucsc.edu	37	2	160983104	160983104	+	Missense_Mutation	SNP	C	C	A	rs143914557		TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr2:160983104C>A	ENST00000283249.2	-	11	1906	c.1669G>T	c.(1669-1671)Gac>Tac	p.D557Y	ITGB6_ENST00000409872.1_Missense_Mutation_p.D557Y|ITGB6_ENST00000428609.2_Missense_Mutation_p.D515Y|ITGB6_ENST00000409967.2_Intron	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	557	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.D557Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CAGTCACAGTCGCCGTTACCT	0.522																																																1	Substitution - Missense(1)	kidney(1)						C	TYR/ASP	0,4406		0,0,2203	77	75	75		1669	4.2	1	2	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ITGB6	NM_000888.3	160	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	557/789	160983104	1,13005	2203	4300	6503	SO:0001583	missense	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1669G>T	2.37:g.160983104C>A	ENSP00000283249:p.Asp557Tyr		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186758	0.38609	0.0	1.16E-4	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409872	D;D;D	0.93076	-3.16;-3.16;-3.16	5.1	4.17	0.49024	EGF, extracellular (1);	0.300984	0.36034	N	0.002825	D	0.90000	0.6878	L	0.41824	1.3	0.46981	D	0.999274	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.008	D	0.87537	0.2456	10	0.62326	D	0.03	.	15.4831	0.75542	0.1386:0.8614:0.0:0.0	.	515;557	E9PEE8;P18564	.;ITB6_HUMAN	Y	557;515;557	ENSP00000283249:D557Y;ENSP00000408024:D515Y;ENSP00000386367:D557Y	ENSP00000283249:D557Y	D	-	1	0	ITGB6	160691350	0.938000	0.31826	1.000000	0.80357	0.648000	0.38561	2.095000	0.41729	2.543000	0.85770	0.655000	0.94253	GAC		0.522	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		A	160983104	C	A	160983104	3	1	95	1	0	0	0	0	1	0	0	0	7901	884	31	4	717	4	ITGB6	2	160983104	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	136514018	160983104	82216269	12	6246											
DHX15	1665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	24572443	24572444	+	Nonsense_Mutation	DNP	GC	GC	AT			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr4:24572443_24572444GC>AT	ENST00000336812.4	-	3	690_691	c.534_535GC>AT	c.(532-537)atGCga>atATga	p.178_179MR>I*		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	178	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R179*(1)|p.M178I(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GGTAATGATCGCATGTACTCCA	0.416																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	kidney(2)																																								SO:0001587	stop_gained	1665			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.534_535delinsAT	4.37:g.24572443_24572444delinsAT	ENSP00000336741:p.M178_R179delinsI*		Q9NQT7	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000336812.4	37	CCDS33966.1																																																																																				0.416	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		AT	24572444	GC	AT	24572443	4	1	95	1	0	0	0	0	0	1	0	0	4503	1095	38	1	1900	1	DHX15	4	24572443	Nonsense_Mutation	DNP	GC	TCGA-AK-3430-01A-01D-1251-10		24572443	166581833	13	6247											
EGF	1950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	110909739	110909739	+	Splice_Site	SNP	G	G	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr4:110909739G>T	ENST00000265171.5	+	18	3053		c.e18-1		EGF_ENST00000509793.1_Splice_Site|EGF_ENST00000503392.1_Splice_Site	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor						activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TTTGCCCACAGATATAGATGA	0.428																																																1	Unknown(1)	kidney(1)											154	159	158					4																	110909739		2203	4300	6503	SO:0001630	splice_region_variant	1950			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2609-1G>T	4.37:g.110909739G>T			B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Splice_Site	SNP	ENST00000265171.5	37	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848082	0.71603	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3079	0.94171	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EGF	111129188	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	7.080000	0.76837	2.550000	0.86006	0.655000	0.94253	.		0.428	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		Intron	T	110909739	G	T	110909739	5	4	95	1	0	0	0	0	0	0	1	0	4964	956	33	4	2678	4	EGF	4	110909739	Splice_Site	SNP	G	TCGA-AK-3430-01A-01D-1251-10	86337296	110909739	80244537	14	6248											
C4orf31	79625	broad.mit.edu;ucsc.edu	37	4	121958431	121958431	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr4:121958431C>A	ENST00000379692.4	-	4	1221	c.695G>T	c.(694-696)aGt>aTt	p.S232I	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	232					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.S232I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ATCATCTGCACTCAGTTTTGC	0.448																																																1	Substitution - Missense(1)	kidney(1)											143	145	145					4																	121958431		2203	4300	6503	SO:0001583	missense	0			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.695G>T	4.37:g.121958431C>A	ENSP00000369014:p.Ser232Ile		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583158	0.28268	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.7	2.76	0.32466	.	0.153854	0.64402	N	0.000001	T	0.45216	0.1331	L	0.47716	1.5	0.43512	D	0.995773	B	0.06786	0.001	B	0.08055	0.003	T	0.37244	-0.9714	9	0.49607	T	0.09	-6.2617	5.6922	0.17835	0.1112:0.6315:0.1215:0.1358	.	232	Q8TB73	NDNF_HUMAN	I	232	.	ENSP00000369014:S232I	S	-	2	0	NDNF	122177881	0.701000	0.27806	0.846000	0.33378	0.990000	0.78478	1.002000	0.29796	0.696000	0.31696	0.655000	0.94253	AGT		0.448	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		A	121958431	C	A	121958431	3	1	95	1	0	0	0	0	1	0	0	0	2263	565	20	4	1015	4	C4orf31	4	121958431	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	11048692	121958431	69195845	15	6249											
C5orf42	65250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37168941	37168941	+	Silent	SNP	T	T	C			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr5:37168941T>C	ENST00000508244.1	-	33	7278	c.7185A>G	c.(7183-7185)aaA>aaG	p.K2395K	C5orf42_ENST00000425232.2_Silent_p.K2395K|C5orf42_ENST00000274258.7_Silent_p.K1275K			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2395						integral component of membrane (GO:0016021)		p.K2395K(1)|p.K1275K(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATCTTGGGTATTTTCTTTCTT	0.363																																																2	Substitution - coding silent(2)	kidney(2)											179	180	179					5																	37168941		2203	4300	6503	SO:0001819	synonymous_variant	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7185A>G	5.37:g.37168941T>C			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																				0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		C	37168941	T	C	37168941	2	2	95	1	0	0	0	0	0	0	0	1	2303	1490	52	3		3	C5orf42	5	37168941	Silent	SNP	T	TCGA-AK-3430-01A-01D-1251-10		37168941	143746319	16	6250											
CD180	4064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66479407	66479407	+	Silent	SNP	G	G	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr5:66479407G>A	ENST00000256447.4	-	3	1421	c.1264C>T	c.(1264-1266)Cta>Tta	p.L422L	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	422					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L422L(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AGGAGTTCTAGCTGAGGACAT	0.458																																																1	Substitution - coding silent(1)	kidney(1)											168	172	171					5																	66479407		2203	4300	6503	SO:0001819	synonymous_variant	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1264C>T	5.37:g.66479407G>A			B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	CCDS3992.1																																																																																				0.458	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		A	66479407	G	A	66479407	2	1	95	1	0	0	0	0	0	0	0	1	2974	962	34	2		2	CD180	5	66479407	Silent	SNP	G	TCGA-AK-3430-01A-01D-1251-10	29310466	66479407	114435853	17	6251											
JMY	133746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	78573870	78573870	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr5:78573870G>A	ENST00000396137.4	+	2	1632	c.1170G>A	c.(1168-1170)atG>atA	p.M390I		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	390					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.M36I(1)|p.M390I(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TCCGAGACATGAGAGAACTTG	0.438																																																2	Substitution - Missense(2)	kidney(2)											135	128	130					5																	78573870		1907	4124	6031	SO:0001583	missense	133746			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1170G>A	5.37:g.78573870G>A	ENSP00000379441:p.Met390Ile		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968994	0.74131	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.07444	3.19	5.37	5.37	0.77165	.	0.043024	0.85682	D	0.000000	T	0.20047	0.0482	M	0.79693	2.465	0.58432	D	0.999998	P	0.39737	0.685	B	0.42343	0.384	T	0.01464	-1.1348	10	0.87932	D	0	.	19.0949	0.93246	0.0:0.0:1.0:0.0	.	390	Q8N9B5	JMY_HUMAN	I	390	ENSP00000379441:M390I	ENSP00000282259:M390I	M	+	3	0	JMY	78609626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.980000	0.76160	2.525000	0.85131	0.650000	0.86243	ATG		0.438	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		A	78573870	G	A	78573870	3	1	95	1	0	0	0	0	1	0	0	0	7959	1290	45	2	1176	2	JMY	5	78573870	Missense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	12094463	78573870	102341390	18	6252											
SHROOM1	134549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132160424	132160424	+	Missense_Mutation	SNP	G	G	A	rs201446106		TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr5:132160424G>A	ENST00000378679.3	-	6	1928	c.1124C>T	c.(1123-1125)aCc>aTc	p.T375I	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000319854.3_Missense_Mutation_p.T375I	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	375					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)	p.T375I(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACAATGCAGGTCTCTGAGAC	0.582																																																1	Substitution - Missense(1)	kidney(1)											76	82	80					5																	132160424		2203	4300	6503	SO:0001583	missense	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1124C>T	5.37:g.132160424G>A	ENSP00000367950:p.Thr375Ile		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508299	0.44660	.	.	ENSG00000164403	ENST00000378679;ENST00000319854	T;T	0.24723	1.84;1.84	3.49	1.66	0.24008	.	1.199520	0.05799	N	0.611848	T	0.15522	0.0374	N	0.24115	0.695	0.24187	N	0.99557	P;B	0.35348	0.496;0.363	B;B	0.31245	0.126;0.059	T	0.24012	-1.0172	10	0.39692	T	0.17	-7.7636	4.1079	0.10045	0.1235:0.0:0.6315:0.245	.	375;375	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	I	375	ENSP00000367950:T375I;ENSP00000324245:T375I	ENSP00000324245:T375I	T	-	2	0	SHROOM1	132188323	0.002000	0.14202	0.251000	0.24312	0.569000	0.35902	0.664000	0.25068	0.450000	0.26774	0.561000	0.74099	ACC		0.582	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		A	132160424	G	A	132160424	3	1	95	1	0	0	0	0	1	0	0	0	14299	1261	44	2	1454	2	SHROOM1	5	132160424	Missense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	53586554	132160424	48754836	19	6253											
PCDHB3	56132	hgsc.bcm.edu	37	5	140481633	140481633	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr5:140481633delC	ENST00000231130.2	+	1	1400	c.1400delC	c.(1399-1401)gccfs	p.A467fs	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	467	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAGCCCCGCCCTGCACATC	0.622																																																0													80	81	81					5																	140481633		2202	4296	6498	SO:0001589	frameshift_variant	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1400delC	5.37:g.140481633delC	ENSP00000231130:p.Ala467fs		B2R8P2	Frame_Shift_Del	DEL	ENST00000231130.2	37	CCDS4245.1																																																																																				0.622	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		-	140481633	C	-	140481633	7	5	95	1	0	1	0	1	0	0	0	0	11545	739	26	0	1402	0	PCDHB3	5	140481633	Frame_Shift_Del	DEL	C	TCGA-AK-3430-01A-01D-1251-10	8321209	140481633	40433627	20	6254											
PPARGC1B	133522	broad.mit.edu;hgsc.bcm.edu	37	5	149212567	149212567	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr5:149212567C>T	ENST00000309241.5	+	5	963	c.931C>T	c.(931-933)Cca>Tca	p.P311S	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P272S|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P311S|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P247S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	311					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.P311S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GACCCCTGAGCCACTCCCCAA	0.632																																																1	Substitution - Missense(1)	kidney(1)											40	47	44					5																	149212567		2203	4300	6503	SO:0001583	missense	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.931C>T	5.37:g.149212567C>T	ENSP00000312649:p.Pro311Ser		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	7.348	0.622335	0.14193	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.08458	3.16;3.09;3.1;3.16	5.61	3.64	0.41730	.	0.364252	0.26590	N	0.023529	T	0.05456	0.0144	L	0.29908	0.895	0.09310	N	1	B;P;B;B;B	0.38078	0.053;0.617;0.053;0.031;0.066	B;B;B;B;B	0.37144	0.019;0.242;0.032;0.009;0.018	T	0.30001	-0.9993	10	0.44086	T	0.13	-5.4821	2.4314	0.04472	0.2035:0.4628:0.1787:0.1549	.	290;290;272;311;311	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	S	272;311;311;247	ENSP00000353638:P272S;ENSP00000377855:P311S;ENSP00000312649:P311S;ENSP00000384403:P247S	ENSP00000312649:P311S	P	+	1	0	PPARGC1B	149192760	0.018000	0.18449	0.932000	0.37286	0.290000	0.27261	0.356000	0.20181	1.369000	0.46134	0.655000	0.94253	CCA		0.632	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		T	149212567	C	T	149212567	3	4	95	1	0	0	0	0	1	0	0	0	12303	739	26	2	956	2	PPARGC1B	5	149212567	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	8730934	149212567	31702693	21	6255											
EBF1	1879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	158250251	158250251	+	Silent	SNP	A	A	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr5:158250251A>G	ENST00000313708.6	-	8	993	c.711T>C	c.(709-711)aaT>aaC	p.N237N	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.N214N|EBF1_ENST00000517373.1_Silent_p.N237N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	237	Interaction with DNA. {ECO:0000250}.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N237N(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGCTTGGAATTATTATGGA	0.488			T	HMGA2	lipoma																																		Dom	yes		5	5q34	1879	early B-cell factor 1		M	1	Substitution - coding silent(1)	kidney(1)											86	71	76					5																	158250251		2203	4300	6503	SO:0001819	synonymous_variant	1879			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.711T>C	5.37:g.158250251A>G			Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																				0.488	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		G	158250251	A	G	158250251	2	3	95	1	0	0	0	0	0	0	0	1	4882	98	4	3		3	EBF1	5	158250251	Silent	SNP	A	TCGA-AK-3430-01A-01D-1251-10	9037684	158250251	22665009	22	6256											
UBLCP1	134510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	158710292	158710292	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr5:158710292A>C	ENST00000296786.6	+	10	1200	c.874A>C	c.(874-876)Aag>Cag	p.K292Q		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	292	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)	p.K292Q(1)		endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAGTACCTCAAGGAGATAGC	0.299																																																1	Substitution - Missense(1)	kidney(1)											95	102	99					5																	158710292		2203	4293	6496	SO:0001583	missense	134510			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.874A>C	5.37:g.158710292A>C	ENSP00000296786:p.Lys292Gln		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955039	0.53293	.	.	ENSG00000164332	ENST00000296786	T	0.18174	2.23	5.37	5.37	0.77165	HAD-superfamily hydrolase, subfamily IIID (1);NLI interacting factor (2);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.56199	1.76	0.58432	D	0.999999	P	0.48998	0.918	P	0.46585	0.521	T	0.03662	-1.1015	10	0.13853	T	0.58	-21.4226	14.2388	0.65943	1.0:0.0:0.0:0.0	.	292	Q8WVY7	UBCP1_HUMAN	Q	292	ENSP00000296786:K292Q	ENSP00000296786:K292Q	K	+	1	0	UBLCP1	158642870	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.910000	0.92685	2.154000	0.67381	0.533000	0.62120	AAG		0.299	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		C	158710292	A	C	158710292	3	2	95	1	0	0	0	0	1	0	0	0	16896	131	5	5	908	5	UBLCP1	5	158710292	Missense_Mutation	SNP	A	TCGA-AK-3430-01A-01D-1251-10	460041	158710292	22204968	23	6257											
SLC17A3	10786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	25850134	25850134	+	Silent	SNP	A	A	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr6:25850134A>G	ENST00000360657.3	-	9	1221	c.936T>C	c.(934-936)aaT>aaC	p.N312N	SLC17A3_ENST00000397060.4_Silent_p.N390N|SLC17A3_ENST00000361703.6_Silent_p.N312N			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	312					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)	p.N312N(1)|p.N390N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TATAGCCGGAATTGAGGTAAG	0.433																																																2	Substitution - coding silent(2)	kidney(2)											97	97	97					6																	25850134		2203	4300	6503	SO:0001819	synonymous_variant	10786			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.936T>C	6.37:g.25850134A>G			B7WNJ5|B7Z511|Q8WWC7|Q9H533	Silent	SNP	ENST00000360657.3	37	CCDS4566.2																																																																																				0.433	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			G	25850134	A	G	25850134	2	3	95	1	0	0	0	0	0	0	0	1	14424	98	4	3		3	SLC17A3	6	25850134	Silent	SNP	A	TCGA-AK-3430-01A-01D-1251-10		25850134	145264933	24	6258											
IL6	3569	hgsc.bcm.edu;ucsc.edu	37	7	22771126	22771126	+	Silent	SNP	T	T	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr7:22771126T>G	ENST00000404625.1	+	6	1032	c.573T>G	c.(571-573)acT>acG	p.T191T	IL6_ENST00000258743.5_Silent_p.T191T|IL6_ENST00000407492.1_Silent_p.T115T|IL6_ENST00000401630.3_Silent_p.T168T			P05231	IL6_HUMAN	interleukin 6	191					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	ACATGACAACTCATCTCATTC	0.517																																					Esophageal Squamous(47;342 1214 13936 33513)											0													79	69	72					7																	22771126		2203	4300	6503	SO:0001819	synonymous_variant	3569			M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"Interleukins and interleukin receptors", "Interferons"	6018	protein-coding gene	gene with protein product	"interferon, beta 2"	147620	"interleukin 6 (interferon, beta 2)"	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.573T>G	7.37:g.22771126T>G			Q9UCU2|Q9UCU3|Q9UCU4	Silent	SNP	ENST00000404625.1	37	CCDS5375.1																																																																																				0.517	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		G	22771126	T	G	22771126	2	3	95	1	0	0	0	0	0	0	0	1	7703	1538	54	5		5	IL6	7	22771126	Silent	SNP	T	TCGA-AK-3430-01A-01D-1251-10		22771126	136367537	25	6259											
PTPN12	5782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	77256021	77256021	+	Splice_Site	SNP	G	G	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr7:77256021G>A	ENST00000248594.6	+	13	1297		c.e13-1		PTPN12_ENST00000415482.2_Splice_Site|PTPN12_ENST00000435495.2_Splice_Site	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12						protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.?(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTGTTTTTCAGTTGCCTTGTT	0.408																																																1	Unknown(1)	kidney(1)											58	56	57					7																	77256021		2203	4300	6503	SO:0001630	splice_region_variant	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1026-1G>A	7.37:g.77256021G>A			A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Splice_Site	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944494	0.73672	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPN12	77093957	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.902000	0.92568	2.941000	0.99782	0.655000	0.94253	.		0.408	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		Intron	A	77256021	G	A	77256021	5	1	95	1	0	0	0	0	0	0	1	0	12787	1043	36	2	1075	2	PTPN12	7	77256021	Splice_Site	SNP	G	TCGA-AK-3430-01A-01D-1251-10	54484895	77256021	81882642	26	6260											
CNTNAP2	26047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	147336210	147336210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr7:147336210G>A	ENST00000361727.3	+	13	2426	c.1910G>A	c.(1909-1911)tGg>tAg	p.W637*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	637	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.W637*(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACAAAGTGTGGACCATAGTG	0.463										HNSCC(39;0.1)																																						1	Substitution - Nonsense(1)	kidney(1)											119	117	118					7																	147336210		2203	4300	6503	SO:0001587	stop_gained	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1910G>A	7.37:g.147336210G>A	ENSP00000354778:p.Trp637*		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	38	6.906195	0.97924	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	.	.	.	5.74	4.85	0.62838	.	0.078743	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3879	0.74718	0.0:0.0:0.8599:0.14	.	.	.	.	X	637;28	.	ENSP00000354778:W637X	W	+	2	0	CNTNAP2	146967143	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.912000	0.75753	1.542000	0.49330	0.561000	0.74099	TGG		0.463	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	147336210	G	A	147336210	4	1	95	1	0	0	0	0	0	1	0	0	3649	1357	47	2	1960	2	CNTNAP2	7	147336210	Nonsense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	70080189	147336210	11802453	27	6261											
LONRF1	91694	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	12592860	12592860	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr8:12592860T>G	ENST00000398246.3	-	7	1570	c.1501A>C	c.(1501-1503)Aat>Cat	p.N501H	LONRF1_ENST00000533751.1_Missense_Mutation_p.N144H|LONRF1_ENST00000530693.1_5'Flank	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	501							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.N501H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TCAAGACAATTCTTACAGAAC	0.358																																																1	Substitution - Missense(1)	kidney(1)											84	75	78					8																	12592860		1842	4094	5936	SO:0001583	missense	91694			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1501A>C	8.37:g.12592860T>G	ENSP00000381298:p.Asn501His		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033732	0.75504	.	.	ENSG00000154359	ENST00000398246;ENST00000533751;ENST00000524526	D;D;D	0.84944	-1.92;-1.92;-1.92	5.17	5.17	0.71159	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.255106	0.42682	D	0.000674	T	0.77651	0.4162	N	0.16130	0.375	0.35678	D	0.81388	B;B	0.31413	0.142;0.322	B;B	0.40329	0.089;0.326	T	0.81854	-0.0741	10	0.52906	T	0.07	-15.6593	10.5208	0.44918	0.0:0.0838:0.0:0.9162	.	490;501	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	H	501;144;104	ENSP00000381298:N501H;ENSP00000432130:N144H;ENSP00000433327:N104H	ENSP00000381298:N501H	N	-	1	0	LONRF1	12637231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.917000	0.69989	2.254000	0.74563	0.460000	0.39030	AAT		0.358	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		G	12592860	T	G	12592860	3	3	95	1	0	0	0	0	1	0	0	0	8896	1783	62	5	844	5	LONRF1	8	12592860	Missense_Mutation	SNP	T	TCGA-AK-3430-01A-01D-1251-10		12592860	133771162	28	6262											
MSR1	4481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	15977930	15977930	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr8:15977930G>C	ENST00000262101.5	-	9	1340	c.1219C>G	c.(1219-1221)Caa>Gaa	p.Q407E	MSR1_ENST00000350896.3_Intron|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.Q425E			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	407	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.Q407E(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AAATTACCTTGTCCAAAGTGA	0.507																																																1	Substitution - Missense(1)	kidney(1)											75	75	75					8																	15977930		2203	4300	6503	SO:0001583	missense	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1219C>G	8.37:g.15977930G>C	ENSP00000262101:p.Gln407Glu		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223815	0.39300	.	.	ENSG00000038945	ENST00000262101;ENST00000445506	T;T	0.33865	1.39;1.39	4.84	-0.743	0.11105	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.085560	0.07220	N	0.860802	T	0.27765	0.0683	L	0.31420	0.93	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.008	T	0.08911	-1.0699	10	0.32370	T	0.25	.	11.947	0.52934	0.0:0.4998:0.3718:0.1284	.	425;407	B4DDJ5;P21757	.;MSRE_HUMAN	E	407;425	ENSP00000262101:Q407E;ENSP00000405453:Q425E	ENSP00000262101:Q407E	Q	-	1	0	MSR1	16022301	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	0.932000	0.28884	-0.251000	0.09542	0.655000	0.94253	CAA		0.507	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			C	15977930	G	C	15977930	3	2	95	1	0	0	0	0	1	0	0	0	9888	1386	48	4	144	4	MSR1	8	15977930	Missense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	3385070	15977930	130386092	29	6263											
CHD7	55636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	61763106	61763106	+	Missense_Mutation	SNP	G	G	A	rs372644599		TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr8:61763106G>A	ENST00000423902.2	+	26	5938	c.5459G>A	c.(5458-5460)cGa>cAa	p.R1820Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1820					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1820Q(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTTCTGGAACGAGTCGGTATG	0.507																																																2	Substitution - Missense(2)	kidney(2)						G	GLN/ARG	1,4281		0,1,2140	50	59	56		5459	5.5	1	8		56	1,8491		0,1,4245	no	missense	CHD7	NM_017780.3	43	0,2,6385	AA,AG,GG		0.0118,0.0234,0.0157	probably-damaging	1820/2998	61763106	2,12772	2141	4246	6387	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5459G>A	8.37:g.61763106G>A	ENSP00000392028:p.Arg1820Gln		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	37	6.037820	0.97226	2.34E-4	1.18E-4	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.92397	-3.03	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	D	0.93926	0.8056	M	0.75615	2.305	0.80722	D	1	D	0.56746	0.977	P	0.49561	0.615	D	0.94461	0.7676	10	0.72032	D	0.01	-8.3022	19.3689	0.94477	0.0:0.0:1.0:0.0	.	1820	Q9P2D1	CHD7_HUMAN	Q	1820	ENSP00000392028:R1820Q	ENSP00000307304:R1820Q	R	+	2	0	CHD7	61925660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.579000	0.87056	0.650000	0.86243	CGA		0.507	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61763106	G	A	61763106	3	1	95	1	0	0	0	0	1	0	0	0	3332	1058	37	1	5557	1	CHD7	8	61763106	Missense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	45785176	61763106	84600916	30	6264											
SYBU	55638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110587762	110587762	+	Silent	SNP	G	G	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr8:110587762G>A	ENST00000422135.1	-	8	1880	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	SYBU_ENST00000528331.1_Silent_p.D336D|SYBU_ENST00000408908.2_Silent_p.D455D|SYBU_ENST00000529175.1_Silent_p.D249D|SYBU_ENST00000528647.1_Silent_p.D454D|SYBU_ENST00000419099.1_Silent_p.D454D|SYBU_ENST00000446070.2_Silent_p.D454D|SYBU_ENST00000533171.1_Silent_p.D455D|SYBU_ENST00000433638.1_Silent_p.D455D|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000408889.3_Silent_p.D336D|SYBU_ENST00000533065.1_Silent_p.D336D|SYBU_ENST00000440310.1_Silent_p.D455D|SYBU_ENST00000276646.9_Silent_p.D455D|SYBU_ENST00000399066.3_Silent_p.D452D|SYBU_ENST00000532779.1_Silent_p.D387D|SYBU_ENST00000529690.1_Silent_p.D325D|SYBU_ENST00000424158.2_Silent_p.D460D|SYBU_ENST00000533895.1_Silent_p.D454D	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	455					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D452D(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CAAGCTCCAGGTCACCAGATT	0.577																																																1	Substitution - coding silent(1)	kidney(1)											133	137	136					8																	110587762		2103	4215	6318	SO:0001819	synonymous_variant	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1365C>T	8.37:g.110587762G>A			A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	CCDS47912.1																																																																																				0.577	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		A	110587762	G	A	110587762	2	1	95	1	0	0	0	0	0	0	0	1	15432	1252	44	2		2	SYBU	8	110587762	Silent	SNP	G	TCGA-AK-3430-01A-01D-1251-10	48824656	110587762	35776260	31	6265											
ZMYND11	10771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	225962	225962	+	Silent	SNP	T	T	C			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr10:225962T>C	ENST00000397962.3	+	2	438	c.10T>C	c.(10-12)Tta>Cta	p.L4L	ZMYND11_ENST00000402736.1_Silent_p.L4L|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000309776.4_5'UTR|ZMYND11_ENST00000509513.2_Silent_p.L4L|ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000381607.4_5'UTR|ZMYND11_ENST00000602682.1_Silent_p.L4L|ZMYND11_ENST00000403354.1_Silent_p.L4L|ZMYND11_ENST00000381591.1_Silent_p.L4L|ZMYND11_ENST00000397959.3_Silent_p.L4L|ZMYND11_ENST00000381602.4_5'UTR|ZMYND11_ENST00000558098.2_Silent_p.L4L			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	4					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L4L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATGGCACGTTTAACAAAAAG	0.373																																																2	Substitution - coding silent(2)	kidney(2)											100	90	93					10																	225962		1568	3582	5150	SO:0001819	synonymous_variant	10771			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.10T>C	10.37:g.225962T>C			B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Silent	SNP	ENST00000397962.3	37	CCDS7052.2																																																																																				0.373	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		C	225962	T	C	225962	2	2	95	1	0	0	0	0	0	0	0	1	17711	1838	64	3		3	ZMYND11	10	225962	Silent	SNP	T	TCGA-AK-3430-01A-01D-1251-10		225962	135308785	32	6266											
DRGX	644168	broad.mit.edu;ucsc.edu	37	10	50574424	50574424	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr10:50574424C>A	ENST00000374139.2	-	6	539	c.529G>T	c.(529-531)Ggc>Tgc	p.G177C	DRGX_ENST00000434016.1_Missense_Mutation_p.G182C			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	177					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G182C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CACAGTGGGCCCCCTGGAAAA	0.577																																																1	Substitution - Missense(1)	kidney(1)											42	46	45					10																	50574424		1998	4179	6177	SO:0001583	missense	644168				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"Homeoboxes / PRD class"	21536	protein-coding gene	gene with protein product	"paired-like homeodomain trancription factor DRG11"	606701	"paired related homeobox-like 1"	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.529G>T	10.37:g.50574424C>A	ENSP00000363254:p.Gly177Cys			Missense_Mutation	SNP	ENST00000374139.2	37		.	.	.	.	.	.	.	.	.	.	C	19.39	3.818071	0.71028	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.91894	-2.93;-2.89	5.54	4.64	0.57946	.	0.324843	0.36444	N	0.002589	D	0.83644	0.5299	N	0.08118	0	0.34905	D	0.746879	P	0.49696	0.927	P	0.45946	0.498	D	0.86775	0.1975	10	0.66056	D	0.02	.	6.7254	0.23353	0.0:0.7001:0.0:0.2999	.	182	C9JW76	.	C	177;182	ENSP00000363254:G177C;ENSP00000401653:G182C	ENSP00000363254:G177C	G	-	1	0	DRGX	50244430	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.166000	0.31834	1.337000	0.45525	0.655000	0.94253	GGC		0.577	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		A	50574424	C	A	50574424	3	1	95	1	0	0	0	0	1	0	0	0	4765	623	22	4	265	4	DRGX	10	50574424	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	50348462	50574424	84960323	33	6267											
CDHR1	92211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	85960393	85960393	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr10:85960393G>T	ENST00000372117.3	+	6	578	c.475G>T	c.(475-477)Gca>Tca	p.A159S	CDHR1_ENST00000440770.2_5'Flank|CDHR1_ENST00000332904.3_Missense_Mutation_p.A159S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	159	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.A159S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TAAGGTCCATGCAGTGGACAG	0.602																																																1	Substitution - Missense(1)	kidney(1)											109	78	88					10																	85960393		2203	4300	6503	SO:0001583	missense	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.475G>T	10.37:g.85960393G>T	ENSP00000361189:p.Ala159Ser		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951168	0.53186	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.61510	0.1;0.1	5.31	5.31	0.75309	Cadherin (5);Cadherin-like (1);	0.110612	0.64402	D	0.000010	T	0.81221	0.4777	M	0.93016	3.37	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.65874	0.939;0.917	D	0.86155	0.1590	10	0.87932	D	0	-10.4224	17.7406	0.88406	0.0:0.0:1.0:0.0	.	159;159	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	S	159	ENSP00000331063:A159S;ENSP00000361189:A159S	ENSP00000331063:A159S	A	+	1	0	CDHR1	85950373	1.000000	0.71417	0.090000	0.20809	0.161000	0.22273	8.998000	0.93550	2.466000	0.83321	0.563000	0.77884	GCA		0.602	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		T	85960393	G	T	85960393	3	4	95	1	0	0	0	0	1	0	0	0	3120	1319	46	4	497	4	CDHR1	10	85960393	Missense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	35385969	85960393	49574354	34	6268											
EXOC6	54536	hgsc.bcm.edu;ucsc.edu	37	10	94669364	94669364	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr10:94669364A>C	ENST00000260762.6	+	6	653	c.639A>C	c.(637-639)aaA>aaC	p.K213N	EXOC6_ENST00000371552.4_Missense_Mutation_p.K208N|EXOC6_ENST00000443748.2_Missense_Mutation_p.K213N|EXOC6_ENST00000497262.1_3'UTR|EXOC6_ENST00000371547.4_Missense_Mutation_p.K229N	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	213					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ATTCTGACAAAATAGGTGAAA	0.299																																																0													48	48	48					10																	94669364		2203	4300	6503	SO:0001583	missense	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.639A>C	10.37:g.94669364A>C	ENSP00000260762:p.Lys213Asn		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342471	0.81911	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.69	5.69	0.88448	.	0.042983	0.85682	D	0.000000	T	0.45538	0.1347	M	0.62266	1.93	0.29680	N	0.841814	P;P;P;P;P	0.50066	0.924;0.931;0.76;0.76;0.76	P;P;B;B;P	0.52267	0.694;0.522;0.365;0.365;0.467	T	0.50841	-0.8780	10	0.66056	D	0.02	-20.5851	15.9417	0.79758	1.0:0.0:0.0:0.0	.	229;213;205;213;208	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	N	229;208;213;213	ENSP00000360602:K229N;ENSP00000360607:K208N;ENSP00000396206:K213N;ENSP00000260762:K213N	ENSP00000260762:K213N	K	+	3	2	EXOC6	94659344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.571000	0.60879	2.174000	0.68829	0.528000	0.53228	AAA		0.299	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		C	94669364	A	C	94669364	3	2	95	1	0	0	0	0	1	0	0	0	5310	11	1	5	751	5	EXOC6	10	94669364	Missense_Mutation	SNP	A	TCGA-AK-3430-01A-01D-1251-10	8708971	94669364	40865383	35	6269											
LRP4	4038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46898361	46898361	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr11:46898361T>G	ENST00000378623.1	-	24	3540	c.3298A>C	c.(3298-3300)Agc>Cgc	p.S1100R	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1100					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.S1100R(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCAGTGTGCTGTCAGACCAG	0.547																																																1	Substitution - Missense(1)	kidney(1)											175	139	151					11																	46898361		2201	4299	6500	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3298A>C	11.37:g.46898361T>G	ENSP00000367888:p.Ser1100Arg		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343532	0.82022	.	.	ENSG00000134569	ENST00000378623	D	0.96685	-4.09	5.89	5.89	0.94794	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	N	0.25426	0.745	0.58432	D	0.999994	D	0.54397	0.966	P	0.58780	0.845	D	0.94545	0.7748	10	0.25106	T	0.35	.	16.3127	0.82898	0.0:0.0:0.0:1.0	.	1100	O75096	LRP4_HUMAN	R	1100	ENSP00000367888:S1100R	ENSP00000367888:S1100R	S	-	1	0	LRP4	46854937	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.065000	0.71176	2.246000	0.74042	0.533000	0.62120	AGC		0.547	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		G	46898361	T	G	46898361	3	3	95	1	0	0	0	0	1	0	0	0	8961	1580	55	5	2479	5	LRP4	11	46898361	Missense_Mutation	SNP	T	TCGA-AK-3430-01A-01D-1251-10		46898361	88108155	36	6270											
ZFP91	80829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	58381764	58381764	+	Silent	SNP	A	A	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr11:58381764A>G	ENST00000316059.6	+	9	1221	c.1050A>G	c.(1048-1050)ggA>ggG	p.G350G	ZFP91-CNTF_ENST00000389919.4_Silent_p.G350G	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	350	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.G350G(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCTCCTGTGGACGACTCTTCA	0.393																																																2	Substitution - coding silent(2)	kidney(2)											98	90	93					11																	58381764		2201	4295	6496	SO:0001819	synonymous_variant	80829			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1050A>G	11.37:g.58381764A>G			A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Silent	SNP	ENST00000316059.6	37	CCDS31553.1																																																																																				0.393	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		G	58381764	A	G	58381764	2	3	95	1	0	0	0	0	0	0	0	1	17660	262	10	3		3	ZFP91	11	58381764	Silent	SNP	A	TCGA-AK-3430-01A-01D-1251-10	11483403	58381764	76624752	37	6271											
POLD3	10714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	74340306	74340306	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr11:74340306delA	ENST00000263681.2	+	9	1073	c.944delA	c.(943-945)gaafs	p.E315fs	POLD3_ENST00000532497.1_Frame_Shift_Del_p.E209fs|POLD3_ENST00000527458.1_Frame_Shift_Del_p.E276fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	315					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					AAGGAAACTGAAAACATGAGG	0.388																																																0													154	151	152					11																	74340306		2200	4293	6493	SO:0001589	frameshift_variant	10714			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.944delA	11.37:g.74340306delA	ENSP00000263681:p.Glu315fs		B7ZAI6|Q32MZ9|Q32N00	Frame_Shift_Del	DEL	ENST00000263681.2	37	CCDS8233.1																																																																																				0.388	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		-	74340306	A	-	74340306	7	5	95	1	0	1	0	1	0	0	0	0	12194	246	9	0	978	0	POLD3	11	74340306	Frame_Shift_Del	DEL	A	TCGA-AK-3430-01A-01D-1251-10	15958542	74340306	60666210	38	6272											
SLCO2B1	11309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	74876867	74876867	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr11:74876867delT	ENST00000289575.5	+	4	716	c.321delT	c.(319-321)tatfs	p.Y107fs	SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000428359.2_Frame_Shift_Del_p.Y85fs|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	107					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TTGTGAGCTATTTTGGCAGCC	0.587																																																0													178	156	164					11																	74876867		2200	4293	6493	SO:0001589	frameshift_variant	11309			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.321delT	11.37:g.74876867delT	ENSP00000289575:p.Tyr107fs		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Frame_Shift_Del	DEL	ENST00000289575.5	37	CCDS8235.1																																																																																				0.587	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		-	74876867	T	-	74876867	7	5	95	1	0	1	0	1	0	0	0	0	14733	1500	52	0	335	0	SLCO2B1	11	74876867	Frame_Shift_Del	DEL	T	TCGA-AK-3430-01A-01D-1251-10	536561	74876867	60129649	39	6273											
BCO2	83875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	112072899	112072899	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr11:112072899G>C	ENST00000357685.5	+	8	1315	c.1180G>C	c.(1180-1182)Gaa>Caa	p.E394Q	BCO2_ENST00000393032.2_Missense_Mutation_p.E360Q|BCO2_ENST00000526088.1_Missense_Mutation_p.E360Q|BCO2_ENST00000532593.1_Missense_Mutation_p.E289Q|BCO2_ENST00000438022.1_Missense_Mutation_p.E360Q|BCO2_ENST00000361053.4_Missense_Mutation_p.E321Q|BCO2_ENST00000531169.1_Missense_Mutation_p.E360Q			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	394					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.E394Q(1)		NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GAAGGCTGGGGAAGGGCTTGA	0.398																																					GBM(177;1916 2099 21049 29541 39946)											1	Substitution - Missense(1)	kidney(1)											80	78	79					11																	112072899		2201	4297	6498	SO:0001583	missense	83875			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.1180G>C	11.37:g.112072899G>C	ENSP00000350314:p.Glu394Gln		B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	CCDS8358.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.55|12.55	1.971159|1.971159	0.34754|0.34754	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169|ENST00000530677	D;D;D;D;D;D;D|D	0.95137|0.95069	-3.62;-3.61;-3.61;-3.61;-3.61;-3.49;-3.61|-3.6	5.5|5.5	2.35|2.35	0.29111|0.29111	.|.	0.363862|.	0.33916|.	N|.	0.004440|.	D|D	0.91754|0.91754	0.7392|0.7392	L|L	0.41906|0.41906	1.305|1.305	0.36458|0.36458	D|D	0.866497|0.866497	B;B;B;B|.	0.28208|.	0.086;0.203;0.086;0.057|.	B;B;B;B|.	0.35353|.	0.142;0.123;0.201;0.042|.	D|D	0.89234|0.89234	0.3579|0.3579	10|7	0.37606|0.40728	T|T	0.19|0.16	-32.2856|-32.2856	6.9346|6.9346	0.24459|0.24459	0.1519:0.2572:0.5908:0.0|0.1519:0.2572:0.5908:0.0	.|.	371;321;394;221|.	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7|.	.;.;BCDO2_HUMAN;.|.	Q|A	394;360;321;360;360;289;360|161	ENSP00000350314:E394Q;ENSP00000376752:E360Q;ENSP00000354338:E321Q;ENSP00000414843:E360Q;ENSP00000436615:E360Q;ENSP00000431802:E289Q;ENSP00000437053:E360Q|ENSP00000432045:G161A	ENSP00000350314:E394Q|ENSP00000432045:G161A	E|G	+|+	1|2	0|0	BCO2|BCO2	111578109|111578109	1.000000|1.000000	0.71417|0.71417	0.811000|0.811000	0.32455|0.32455	0.857000|0.857000	0.48899|0.48899	3.101000|3.101000	0.50283|0.50283	0.644000|0.644000	0.30656|0.30656	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.398	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		C	112072899	G	C	112072899	3	2	95	1	0	0	0	0	1	0	0	0	1385	1175	41	4	1210	4	BCO2	11	112072899	Missense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	37196032	112072899	22933617	40	6274											
HYOU1	10525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118916498	118916498	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr11:118916498C>A	ENST00000404233.3	-	25	3057	c.2933G>T	c.(2932-2934)gGa>gTa	p.G978V	RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000529972.1_Missense_Mutation_p.G916V|HYOU1_ENST00000525859.1_Missense_Mutation_p.G916V	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	978					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.G978V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CTCACCTGCTCCAGGACCTCC	0.567																																																1	Substitution - Missense(1)	kidney(1)											74	66	69					11																	118916498		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2933G>T	11.37:g.118916498C>A	ENSP00000384144:p.Gly978Val		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176820	0.38413	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01464	4.9;4.86;4.86	5.41	2.56	0.30785	.	0.687166	0.14557	N	0.312325	T	0.01940	0.0061	L	0.47716	1.5	0.58432	D	0.999993	B;P;B;B	0.36048	0.1;0.534;0.191;0.191	B;B;B;B	0.35470	0.033;0.203;0.076;0.076	T	0.60999	-0.7151	10	0.30854	T	0.27	-5.4377	4.9577	0.14050	0.0:0.5886:0.1651:0.2463	.	970;960;978;978	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	V	978;970;916;827;916;959	ENSP00000384144:G978V;ENSP00000437313:G916V;ENSP00000433397:G916V	ENSP00000278752:G970V	G	-	2	0	HYOU1	118421708	0.912000	0.30974	0.661000	0.29709	0.860000	0.49131	-0.070000	0.11523	0.420000	0.25954	-0.119000	0.15052	GGA		0.567	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		A	118916498	C	A	118916498	3	1	95	1	0	0	0	0	1	0	0	0	7472	855	30	4	74	4	HYOU1	11	118916498	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	6843599	118916498	16090018	41	6275											
OR10G4	390264	broad.mit.edu;hgsc.bcm.edu	37	11	123886795	123886795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr11:123886795C>T	ENST00000320891.4	+	1	514	c.514C>T	c.(514-516)Cag>Tag	p.Q172*		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q172*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGGACCCAACCAGATCCAGCA	0.557																																																1	Substitution - Nonsense(1)	kidney(1)											165	147	153					11																	123886795		2201	4287	6488	SO:0001587	stop_gained	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.514C>T	11.37:g.123886795C>T	ENSP00000325076:p.Gln172*		Q6IEW0	Nonsense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	c	9.576	1.122264	0.20877	.	.	ENSG00000254737	ENST00000320891	.	.	.	3.33	2.39	0.29439	.	0.568844	0.14743	N	0.301047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	7.5405	0.27735	0.1592:0.4265:0.4143:0.0	.	.	.	.	X	172	.	ENSP00000325076:Q172X	Q	+	1	0	OR10G4	123392005	0.000000	0.05858	0.149000	0.22428	0.232000	0.25224	-1.297000	0.02759	0.713000	0.32060	0.580000	0.79431	CAG		0.557	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		T	123886795	C	T	123886795	4	4	95	1	0	0	0	0	0	1	0	0	10903	595	21	2	516	2	OR10G4	11	123886795	Nonsense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	4970297	123886795	11119721	42	6276											
MLL2	8085	broad.mit.edu;hgsc.bcm.edu	37	12	49444844	49444844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr12:49444844G>T	ENST00000301067.7	-	10	2621	c.2622C>A	c.(2620-2622)tgC>tgA	p.C874*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	874	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.C874*(1)									CAGGTGCAGGGCATTGGCCTG	0.647																																																1	Substitution - Nonsense(1)	kidney(1)											47	54	52					12																	49444844		1979	4166	6145	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2622C>A	12.37:g.49444844G>T	ENSP00000301067:p.Cys874*		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007891	0.93287	.	.	ENSG00000167548	ENST00000301067	.	.	.	3.75	-0.211	0.13172	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.0564	0.30608	0.383:0.0:0.617:0.0	.	.	.	.	X	874	.	ENSP00000301067:C874X	C	-	3	2	MLL2	47731111	0.893000	0.30496	0.001000	0.08648	0.719000	0.41307	-0.087000	0.11215	-0.047000	0.13423	0.563000	0.77884	TGC		0.647	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49444844	G	T	49444844	4	4	95	1	0	0	0	0	0	1	0	0	9623	1195	42	4	14171	4	MLL2	12	49444844	Nonsense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10		49444844	84407051	43	6277											
PDE1B	5153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54967242	54967242	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr12:54967242A>T	ENST00000243052.3	+	9	1376	c.940A>T	c.(940-942)Aac>Tac	p.N314Y	PDE1B_ENST00000538346.1_Missense_Mutation_p.N273Y|PDE1B_ENST00000550620.1_Missense_Mutation_p.N294Y|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	314	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.N314Y(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CATTTTCATCAACCTCACCAA	0.463																																																1	Substitution - Missense(1)	kidney(1)											131	115	121					12																	54967242		2203	4300	6503	SO:0001583	missense	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.940A>T	12.37:g.54967242A>T	ENSP00000243052:p.Asn314Tyr		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830427	0.71258	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.83992	-1.79;-1.79;-1.79	4.59	4.59	0.56863	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.060637	0.64402	D	0.000009	D	0.91026	0.7177	M	0.85542	2.76	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92218	0.5782	10	0.87932	D	0	.	12.2623	0.54658	1.0:0.0:0.0:0.0	.	294;314	Q01064-2;Q01064	.;PDE1B_HUMAN	Y	314;273;294	ENSP00000243052:N314Y;ENSP00000442559:N273Y;ENSP00000448519:N294Y	ENSP00000243052:N314Y	N	+	1	0	PDE1B	53253509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.083000	0.76859	2.057000	0.61298	0.528000	0.53228	AAC		0.463	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			T	54967242	A	T	54967242	3	4	95	1	0	0	0	0	1	0	0	0	11636	130	5	5	1027	5	PDE1B	12	54967242	Missense_Mutation	SNP	A	TCGA-AK-3430-01A-01D-1251-10	5522398	54967242	78884653	44	6278											
RASSF9	9182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	86199472	86199472	+	Nonsense_Mutation	SNP	C	C	A	rs562341468		TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr12:86199472C>A	ENST00000361228.3	-	2	684	c.316G>T	c.(316-318)Gag>Tag	p.E106*		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	106	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.E106*(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGCTGCTCATCTCCCCAC	0.453																																																2	Substitution - Nonsense(2)	kidney(2)											119	120	120					12																	86199472		1915	4136	6051	SO:0001587	stop_gained	9182				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.316G>T	12.37:g.86199472C>A	ENSP00000354884:p.Glu106*		B3KMQ4|Q8N5U8	Nonsense_Mutation	SNP	ENST00000361228.3	37	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	37	6.447107	0.97572	.	.	ENSG00000198774	ENST00000361228	.	.	.	4.96	4.96	0.65561	.	0.064498	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-19.6655	18.5686	0.91126	0.0:1.0:0.0:0.0	.	.	.	.	X	106	.	ENSP00000354884:E106X	E	-	1	0	RASSF9	84723603	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.779000	0.62375	2.471000	0.83476	0.609000	0.83330	GAG		0.453	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			A	86199472	C	A	86199472	4	1	95	1	0	0	0	0	0	1	0	0	13099	835	29	4	995	4	RASSF9	12	86199472	Nonsense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	31232230	86199472	47652423	45	6279											
FREM2	341640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	39452971	39452971	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr13:39452971A>G	ENST00000280481.7	+	23	9079	c.8863A>G	c.(8863-8865)Aaa>Gaa	p.K2955E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2955					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K2955E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTAAAGGACAAAGCTCAGCC	0.428																																																1	Substitution - Missense(1)	kidney(1)											129	119	123					13																	39452971		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8863A>G	13.37:g.39452971A>G	ENSP00000280481:p.Lys2955Glu		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	32	5.130212	0.94473	.	.	ENSG00000150893	ENST00000280481	T	0.63096	-0.02	5.84	5.84	0.93424	.	0.048532	0.85682	D	0.000000	T	0.71056	0.3295	M	0.85630	2.765	0.80722	D	1	P	0.43973	0.823	B	0.43413	0.419	T	0.77270	-0.2650	10	0.72032	D	0.01	.	16.2167	0.82231	1.0:0.0:0.0:0.0	.	2955	Q5SZK8	FREM2_HUMAN	E	2955	ENSP00000280481:K2955E	ENSP00000280481:K2955E	K	+	1	0	FREM2	38350971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.307000	0.96226	2.231000	0.72958	0.533000	0.62120	AAA		0.428	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39452971	A	G	39452971	3	3	95	1	0	0	0	0	1	0	0	0	6047	131	5	3	8953	3	FREM2	13	39452971	Missense_Mutation	SNP	A	TCGA-AK-3430-01A-01D-1251-10		39452971	75716907	46	6280											
TPP2	7174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	103275378	103275378	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr13:103275378G>T	ENST00000376065.4	+	6	808	c.772G>T	c.(772-774)Gtg>Ttg	p.V258L	TPP2_ENST00000376052.3_Missense_Mutation_p.V258L	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	258	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.V258L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCTCCATTGTGACCAGTGG	0.413																																																1	Substitution - Missense(1)	kidney(1)											149	154	152					13																	103275378		2203	4300	6503	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.772G>T	13.37:g.103275378G>T	ENSP00000365233:p.Val258Leu		Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359867	0.82353	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.75	5.75	0.90469	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.55990	1.75	0.80722	D	1	P	0.38110	0.618	B	0.38428	0.273	T	0.66244	-0.5972	9	0.66056	D	0.02	.	19.9503	0.97197	0.0:0.0:1.0:0.0	.	258	P29144	TPP2_HUMAN	L	258	.	ENSP00000365220:V258L	V	+	1	0	TPP2	102073379	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.192000	0.94947	2.726000	0.93360	0.585000	0.79938	GTG		0.413	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			T	103275378	G	T	103275378	3	4	95	1	0	0	0	0	1	0	0	0	16417	1377	48	4	794	4	TPP2	13	103275378	Missense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	63822407	103275378	11894500	47	6281											
RPGRIP1	57096	hgsc.bcm.edu;ucsc.edu	37	14	21793467	21793467	+	Silent	SNP	G	G	A	rs35207255	byFrequency	TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr14:21793467G>A	ENST00000400017.2	+	15	2292	c.2292G>A	c.(2290-2292)gcG>gcA	p.A764A	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Silent_p.A726A|RPGRIP1_ENST00000307974.4_Silent_p.A123A|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000206660.6_Silent_p.A764A|RPGRIP1_ENST00000553500.1_3'UTR	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	764			A -> V (does not affect the interaction with NPHP4). {ECO:0000269|PubMed:21224891}.		eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GCCTACAGGCGTGCAATAAAC	0.537													A|||	30	0.00599042	0.0212	0.0029	5008	,	,		20160	0.0		0.0	False		,,,				2504	0.0															0								A		73,3693		1,71,1811	40	40	40		2292	4.2	1	14	dbSNP_126	40	4,8206		0,4,4101	no	coding-synonymous	RPGRIP1	NM_020366.3		1,75,5912	AA,AG,GG		0.0487,1.9384,0.643		764/1287	21793467	77,11899	1883	4105	5988	SO:0001819	synonymous_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2292G>A	14.37:g.21793467G>A			Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	CCDS45080.1																																																																																				0.537	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		A	21793467	G	A	21793467	2	1	95	1	0	0	0	0	0	0	0	1	13555	1132	40	1		1	RPGRIP1	14	21793467	Silent	SNP	G	TCGA-AK-3430-01A-01D-1251-10		21793467	85556073	48	6282											
PRKD1	5587	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	30132916	30132916	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr14:30132916C>T	ENST00000331968.5	-	4	914	c.685G>A	c.(685-687)Gag>Aag	p.E229K	PRKD1_ENST00000415220.2_Missense_Mutation_p.E229K	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	229					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.E229K(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGAAGGGGCTCATCAGGGGCA	0.527																																																2	Substitution - Missense(2)	kidney(2)											154	147	149					14																	30132916		2203	4300	6503	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.685G>A	14.37:g.30132916C>T	ENSP00000333568:p.Glu229Lys		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891852	0.72524	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.66099	-0.19;-0.16	5.93	5.93	0.95920	.	0.054186	0.64402	D	0.000001	T	0.64011	0.2560	M	0.66939	2.045	0.80722	D	1	P	0.37548	0.599	B	0.35607	0.206	T	0.63346	-0.6658	10	0.38643	T	0.18	-12.3313	20.3368	0.98748	0.0:1.0:0.0:0.0	.	229	Q15139	KPCD1_HUMAN	K	229	ENSP00000333568:E229K;ENSP00000390535:E229K	ENSP00000333568:E229K	E	-	1	0	PRKD1	29202667	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.307000	0.78920	2.805000	0.96524	0.655000	0.94253	GAG		0.527	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		T	30132916	C	T	30132916	3	4	95	1	0	0	0	0	1	0	0	0	12523	835	29	2	2113	2	PRKD1	14	30132916	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	8339449	30132916	77216624	49	6283											
STON2	85439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	81736986	81736987	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr14:81736986_81736987GC>AT	ENST00000267540.2	-	5	2840_2841	c.2640_2641GC>AT	c.(2638-2643)atGCtt>atATtt	p.880_881ML>IF	STON2_ENST00000555447.1_Intron	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	880					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)		p.L881F(1)|p.M880I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGAGTTGGAAGCATTAGCCAGA	0.47																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2640_2641delinsAT	14.37:g.81736986_81736987delinsAT	ENSP00000267540:p.M880_L881delinsIF		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1																																																																																				0.47	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		AT	81736987	GC	AT	81736986	3	1	95	1	0	0	0	0	1	0	0	0	15323	971	34	2	78	2	STON2	14	81736986	Missense_Mutation	DNP	GC	TCGA-AK-3430-01A-01D-1251-10	51604070	81736986	25612554	50	6284											
FBN1	2200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48764807	48764807	+	Missense_Mutation	SNP	C	C	A	rs531751210		TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr15:48764807C>A	ENST00000316623.5	-	35	4732	c.4277G>T	c.(4276-4278)gGa>gTa	p.G1426V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1426	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G1426V(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGCGGTATCCTCCTGGTGC	0.542																																																1	Substitution - Missense(1)	kidney(1)											143	132	136					15																	48764807		2198	4296	6494	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4277G>T	15.37:g.48764807C>A	ENSP00000325527:p.Gly1426Val		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722549	0.89298	.	.	ENSG00000166147	ENST00000316623;ENST00000544030	D	0.93426	-3.22	5.81	5.81	0.92471	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.83774	2.66	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.96939	0.9686	10	0.66056	D	0.02	.	19.6746	0.95926	0.0:1.0:0.0:0.0	.	1426	P35555	FBN1_HUMAN	V	1426;316	ENSP00000325527:G1426V	ENSP00000325527:G1426V	G	-	2	0	FBN1	46552099	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.089000	0.71384	2.747000	0.94245	0.650000	0.86243	GGA		0.542	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			A	48764807	C	A	48764807	3	1	95	1	0	0	0	0	1	0	0	0	5704	855	30	4	4466	4	FBN1	15	48764807	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10		48764807	53766585	51	6285											
KIF22	3835	broad.mit.edu;hgsc.bcm.edu	37	16	29810383	29810383	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr16:29810383delA	ENST00000160827.4	+	5	677	c.637delA	c.(637-639)aagfs	p.K213fs	KIF22_ENST00000569382.2_Frame_Shift_Del_p.K145fs|KIF22_ENST00000561482.1_Frame_Shift_Del_p.K145fs|KIF22_ENST00000400751.5_Frame_Shift_Del_p.K145fs|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	213	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCTCTCCCAGAAGCCCATCAG	0.577																																																0													72	77	76					16																	29810383		2197	4296	6493	SO:0001589	frameshift_variant	3835			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.637delA	16.37:g.29810383delA	ENSP00000160827:p.Lys213fs		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Frame_Shift_Del	DEL	ENST00000160827.4	37	CCDS10653.1																																																																																				0.577	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			-	29810383	A	-	29810383	7	5	95	1	0	1	0	1	0	0	0	0	8292	247	9	0	655	0	KIF22	16	29810383	Frame_Shift_Del	DEL	A	TCGA-AK-3430-01A-01D-1251-10		29810383	60544370	52	6286											
RAB11FIP4	84440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29857420	29857420	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr17:29857420A>G	ENST00000325874.8	+	14	1959	c.1730A>G	c.(1729-1731)aAc>aGc	p.N577S	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.N475S	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	577	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.N577S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GAAGCAAAAAACCTCTTTGCT	0.542																																																1	Substitution - Missense(1)	kidney(1)											103	104	104					17																	29857420		2203	4300	6503	SO:0001583	missense	84440			AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1730A>G	17.37:g.29857420A>G	ENSP00000312837:p.Asn577Ser		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287310	0.40494	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.8	5.8	0.92144	Rab-binding domain FIP-RBD (1);	0.045491	0.85682	D	0.000000	T	0.48390	0.1497	L	0.36672	1.1	0.53688	D	0.999975	B;B	0.25312	0.123;0.006	B;B	0.29862	0.108;0.013	T	0.41610	-0.9499	8	.	.	.	-54.9815	12.5402	0.56165	1.0:0.0:0.0:0.0	.	475;577	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	S	577	.	.	N	+	2	0	RAB11FIP4	26881540	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.960000	0.63673	2.226000	0.72624	0.459000	0.35465	AAC		0.542	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		G	29857420	A	G	29857420	3	3	95	1	0	0	0	0	1	0	0	0	12902	43	2	3	1784	3	RAB11FIP4	17	29857420	Missense_Mutation	SNP	A	TCGA-AK-3430-01A-01D-1251-10		29857420	51337790	53	6287											
GGNBP2	79893	hgsc.bcm.edu;ucsc.edu	37	17	34913158	34913158	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr17:34913158delC	ENST00000304718.4	+	4	726	c.410delC	c.(409-411)acafs	p.T137fs		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	137					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAGCTTTATACATTATTTTAT	0.393																																																0													78	76	77					17																	34913158		2203	4300	6503	SO:0001589	frameshift_variant	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.410delC	17.37:g.34913158delC	ENSP00000307617:p.Thr137fs		B2RPK7|Q96T90|Q9GZR8|Q9H767	Frame_Shift_Del	DEL	ENST00000304718.4	37	CCDS11314.1																																																																																				0.393	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		-	34913158	C	-	34913158	7	5	95	1	0	1	0	1	0	0	0	0	6361	478	17	0	420	0	GGNBP2	17	34913158	Frame_Shift_Del	DEL	C	TCGA-AK-3430-01A-01D-1251-10	5055738	34913158	46282052	54	6288											
HAP1	9001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39889026	39889026	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr17:39889026G>A	ENST00000310778.5	-	2	503	c.494C>T	c.(493-495)cCa>cTa	p.P165L	RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_Missense_Mutation_p.P165L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.P165L|HAP1_ENST00000341193.5_Missense_Mutation_p.P165L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	165	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.P165L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTTTTTGACTGGCGGAGGTAG	0.517																																																1	Substitution - Missense(1)	kidney(1)											129	112	118					17																	39889026		2203	4300	6503	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.494C>T	17.37:g.39889026G>A	ENSP00000309392:p.Pro165Leu		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	G	14.72	2.619943	0.46736	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	3.0	3.0	0.34707	.	0.000000	0.37761	N	0.001941	T	0.37517	0.1006	L	0.57536	1.79	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	T	0.02774	-1.1112	10	0.45353	T	0.12	-6.6984	9.7308	0.40359	0.0:0.0:1.0:0.0	.	165;165;165;165	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	L	165	ENSP00000377513:P165L;ENSP00000309392:P165L;ENSP00000334002:P165L;ENSP00000343170:P165L	ENSP00000309392:P165L	P	-	2	0	HAP1	37142552	0.047000	0.20315	0.009000	0.14445	0.007000	0.05969	1.368000	0.34216	1.985000	0.57927	0.455000	0.32223	CCA		0.517	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		A	39889026	G	A	39889026	3	1	95	1	0	0	0	0	1	0	0	0	6955	1348	47	2	1429	2	HAP1	17	39889026	Missense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	4975868	39889026	41306184	55	6289											
MTMR4	9110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56581545	56581546	+	Frame_Shift_Ins	INS	-	-	GT	rs527839252		TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr17:56581545_56581546insGT	ENST00000323456.5	-	14	1645_1646	c.1521_1522insAC	c.(1519-1524)tacggcfs	p.G508fs	MTMR4_ENST00000579925.1_Intron	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	508	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGAAGGTGCCGTAGAGGCAGG	0.559																																																0																																										SO:0001589	frameshift_variant	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1520_1521dupAC	17.37:g.56581546_56581547dupGT	ENSP00000325285:p.Gly508fs		D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	CCDS11608.1																																																																																				0.559	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		GT	56581546	-	GT	56581545	7	5	95	1	0	1	1	0	0	0	0	0	9948	652	23	0	2089	0	MTMR4	17	56581545	Frame_Shift_Ins	INS	-	TCGA-AK-3430-01A-01D-1251-10	16692519	56581545	24613665	56	6290											
LONP1	9361	broad.mit.edu;hgsc.bcm.edu	37	19	5699170	5699170	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr19:5699170A>T	ENST00000360614.3	-	10	1710	c.1553T>A	c.(1552-1554)aTc>aAc	p.I518N	LONP1_ENST00000585374.1_Missense_Mutation_p.I404N|LONP1_ENST00000593119.1_Missense_Mutation_p.I454N|LONP1_ENST00000540670.2_Missense_Mutation_p.I322N|LONP1_ENST00000590729.1_Missense_Mutation_p.I388N	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial									p.I518N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGCAGAGGATCTTGCCCTG	0.657																																																1	Substitution - Missense(1)	kidney(1)											53	54	53					19																	5699170		2203	4300	6503	SO:0001583	missense	9361			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1553T>A	19.37:g.5699170A>T	ENSP00000353826:p.Ile518Asn			Missense_Mutation	SNP	ENST00000360614.3	37	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.987367	0.93106	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.34472	1.62;1.36	5.08	5.08	0.68730	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	H	0.99609	4.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.86531	0.1822	10	0.87932	D	0	-33.3563	12.7987	0.57573	1.0:0.0:0.0:0.0	.	518;454;518	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	N	518;482;322	ENSP00000353826:I518N;ENSP00000441523:I322N	ENSP00000351177:I482N	I	-	2	0	LONP1	5650170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.994000	0.93529	1.921000	0.55644	0.448000	0.29417	ATC		0.657	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		T	5699170	A	T	5699170	3	4	95	1	0	0	0	0	1	0	0	0	8894	333	12	5	1362	5	LONP1	19	5699170	Missense_Mutation	SNP	A	TCGA-AK-3430-01A-01D-1251-10		5699170	53429813	57	6291											
TMEM145	284339	hgsc.bcm.edu;ucsc.edu	37	19	42821885	42821886	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr19:42821885_42821886insAC	ENST00000301204.3	+	12	966_967	c.925_926insAC	c.(925-927)tacfs	p.Y309fs	TMEM145_ENST00000598766.1_Frame_Shift_Ins_p.Y333fs	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	309					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CCAGGTACTGTACACGTATGAG	0.619																																																0																																										SO:0001589	frameshift_variant	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.928_929dupAC	19.37:g.42821888_42821889dupAC	ENSP00000301204:p.Tyr309fs			Frame_Shift_Ins	INS	ENST00000301204.3	37	CCDS12603.1																																																																																				0.619	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		AC	42821886	-	AC	42821885	7	5	95	1	0	1	1	0	0	0	0	0	16064	1638	57	0	971	0	TMEM145	19	42821885	Frame_Shift_Ins	INS	-	TCGA-AK-3430-01A-01D-1251-10	37122715	42821885	16307098	58	6292											
CYTH2	9266	broad.mit.edu	37	19	48977567	48977567	+	Silent	SNP	C	C	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr19:48977567C>T	ENST00000452733.2	+	7	1152	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	CYTH2_ENST00000427476.1_Silent_p.L226L			Q99418	CYH2_HUMAN	cytohesin 2	226					actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)	p.L226L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGGCGGGGACCTGCCTGAGGA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											69	63	65					19																	48977567		2203	4300	6503	SO:0001819	synonymous_variant	9266			X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"Pleckstrin homology (PH) domain containing"	9502	protein-coding gene	gene with protein product		602488	"pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "pleckstrin homology, Sec7 and coiled-coil domains 2"	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.676C>T	19.37:g.48977567C>T			A8K8P0|Q8IXY9|Q92958	Silent	SNP	ENST00000452733.2	37	CCDS12722.1																																																																																				0.652	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		T	48977567	C	T	48977567	2	4	95	1	0	0	0	0	0	0	0	1	4206	680	24	2		2	CYTH2	19	48977567	Silent	SNP	C	TCGA-AK-3430-01A-01D-1251-10	6155682	48977567	10151416	59	6293											
KIR3DL3	115653	broad.mit.edu	37	19	55239272	55239272	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr19:55239272C>T	ENST00000291860.1	+	4	569	c.551C>T	c.(550-552)cCc>cTc	p.P184L	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	184	Ig-like C2-type 2. {ECO:0000305}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P184L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCCATGGGTCCCATGACACCT	0.577																																																1	Substitution - Missense(1)	kidney(1)											49	44	46					19																	55239272		1954	3357	5311	SO:0001583	missense	100133046			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.551C>T	19.37:g.55239272C>T	ENSP00000291860:p.Pro184Leu		A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	N	7.948	0.744254	0.15710	.	.	ENSG00000242019	ENST00000291860	T	0.03124	4.04	1.38	0.171	0.15026	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.262225	0.19202	U	0.120151	T	0.11239	0.0274	H	0.95816	3.725	0.09310	N	1	B	0.29766	0.256	B	0.38056	0.264	T	0.12682	-1.0538	10	0.72032	D	0.01	.	4.5453	0.12078	0.3769:0.6231:0.0:0.0	.	184	Q8N743	KI3L3_HUMAN	L	184	ENSP00000291860:P184L	ENSP00000291860:P184L	P	+	2	0	KIR3DL3	59931084	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	0.957000	0.29215	0.101000	0.17610	0.205000	0.17691	CCC		0.577	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		T	55239272	C	T	55239272	3	4	95	1	0	0	0	0	1	0	0	0	8324	623	22	2	565	2	KIR3DL3	19	55239272	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	6261705	55239272	3889711	60	6294											
ZNF548	147694	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57910589	57910590	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr19:57910589_57910590insT	ENST00000366197.5	+	3	1184_1185	c.934_935insT	c.(934-936)aggfs	p.R312fs	AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Frame_Shift_Ins_p.R324fs|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTATGAGTGCAGGGAATGTGGG	0.436																																																0																																										SO:0001589	frameshift_variant	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		Exception_encountered	19.37:g.57910589_57910590insT	ENSP00000379482:p.Arg312fs		Q96M05	Frame_Shift_Ins	INS	ENST00000366197.5	37	CCDS46209.1																																																																																				0.436	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		T	57910590	-	T	57910589	7	5	95	1	0	1	1	0	0	0	0	0	17985	179	7	0	984	0	ZNF548	19	57910589	Frame_Shift_Ins	INS	-	TCGA-AK-3430-01A-01D-1251-10	2671317	57910589	1218394	61	6295											
ZNF343	79175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2464292	2464292	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr20:2464292delA	ENST00000278772.4	-	6	1802	c.1315delT	c.(1315-1317)tgcfs	p.C439fs	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CACTCCCTGCAAACATAAGGC	0.527																																																0													110	94	100					20																	2464292		2203	4300	6503	SO:0001589	frameshift_variant	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1315delT	20.37:g.2464292delA	ENSP00000278772:p.Cys439fs		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Frame_Shift_Del	DEL	ENST00000278772.4	37	CCDS13028.1																																																																																				0.527	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		-	2464292	A	-	2464292	7	5	95	1	0	1	0	1	0	0	0	0	17863	130	5	0	488	0	ZNF343	20	2464292	Frame_Shift_Del	DEL	A	TCGA-AK-3430-01A-01D-1251-10		2464292	60561228	62	6296											
C20orf94	128710	broad.mit.edu;hgsc.bcm.edu	37	20	10603312	10603312	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr20:10603312A>C	ENST00000334534.5	+	8	692	c.512A>C	c.(511-513)aAa>aCa	p.K171T		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	171								p.K171T(1)									TTCAGTGTGAAAAGAACTGAA	0.418																																																1	Substitution - Missense(1)	kidney(1)											47	45	46					20																	10603312		2203	4300	6503	SO:0001583	missense	0			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"chromosome 20 open reading frame 94"	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.512A>C	20.37:g.10603312A>C	ENSP00000335557:p.Lys171Thr		Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.468654	0.26335	.	.	ENSG00000149346	ENST00000334534	T	0.55760	0.5	5.75	2.17	0.27698	.	0.356586	0.28338	N	0.015716	T	0.47838	0.1467	L	0.43152	1.355	0.21841	N	0.999513	D	0.56746	0.977	P	0.51016	0.656	T	0.41466	-0.9507	10	0.72032	D	0.01	-1.5701	4.3636	0.11213	0.6463:0.0:0.219:0.1347	.	171	Q5VYV7	CT094_HUMAN	T	171	ENSP00000335557:K171T	ENSP00000335557:K171T	K	+	2	0	C20orf94	10551312	1.000000	0.71417	0.988000	0.46212	0.266000	0.26442	1.586000	0.36611	0.094000	0.17404	0.454000	0.30748	AAA		0.418	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		C	10603312	A	C	10603312	3	2	95	1	0	0	0	0	1	0	0	0	2123	14	1	5	538	5	C20orf94	20	10603312	Missense_Mutation	SNP	A	TCGA-AK-3430-01A-01D-1251-10	8139020	10603312	52422208	63	6297											
NKX2-2	4821	broad.mit.edu	37	20	21493005	21493005	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr20:21493005delG	ENST00000377142.4	-	2	734	c.378delC	c.(376-378)ggcfs	p.G126fs	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	126					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTCGCTTCTTGCCGGCGTCCC	0.697																																																0													13	15	14					20																	21493005		2199	4299	6498	SO:0001589	frameshift_variant	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.378delC	20.37:g.21493005delG	ENSP00000366347:p.Gly126fs			Frame_Shift_Del	DEL	ENST00000377142.4	37	CCDS13145.1																																																																																				0.697	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			-	21493005	G	-	21493005	7	5	95	1	0	1	0	1	0	0	0	0	10452	1306	46	0	447	0	NKX2-2	20	21493005	Frame_Shift_Del	DEL	G	TCGA-AK-3430-01A-01D-1251-10	10889693	21493005	41532515	64	6298											
GNAS	2778	broad.mit.edu	37	20	57429460	57429460	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr20:57429460C>A	ENST00000306120.3	+	1	950	c.950C>A	c.(949-951)cCc>cAc	p.P317H	GNAS_ENST00000371102.4_Silent_p.S380S|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371100.4_Silent_p.S380S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Silent_p.S380S|GNAS_ENST00000371098.2_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.S380S(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGTACGGATCCCCTGCCGCCG	0.677			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	1	Substitution - coding silent(1)	kidney(1)											9	15	13					20																	57429460		1894	4066	5960	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.950C>A	20.37:g.57429460C>A	ENSP00000302237:p.Pro317His		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000306120.3	37		.	.	.	.	.	.	.	.	.	.	C	11.29	1.595588	0.28445	.	.	ENSG00000087460	ENST00000306120	.	.	.	4.23	2.08	0.27032	.	.	.	.	.	T	0.60869	0.2302	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59484	-0.7446	5	0.72032	D	0.01	.	6.6222	0.22810	0.0:0.7388:0.0:0.2612	.	.	.	.	H	317	.	ENSP00000302237:P317H	P	+	2	0	GNAS	56862855	0.001000	0.12720	0.200000	0.23457	0.257000	0.26127	0.048000	0.14078	0.406000	0.25560	0.462000	0.41574	CCC		0.677	GNAS-050	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000267987.1	NM_000516		A	57429460	C	A	57429460	3	1	95	1	0	0	0	0	1	0	0	0	6512	623	22	4	1884	4	GNAS	20	57429460	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	35936455	57429460	5596060	65	6299											
TMPRSS15	5651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	19725219	19725219	+	Splice_Site	SNP	C	C	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr21:19725219C>A	ENST00000284885.3	-	10	1205		c.e10+1			NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15							brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGAATTATACCTGAAGCATT	0.348																																																1	Unknown(1)	kidney(1)											97	109	105					21																	19725219		2203	4299	6502	SO:0001630	splice_region_variant	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1171+1G>T	21.37:g.19725219C>A			Q2NKL7	Splice_Site	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715378	0.68844	.	.	ENSG00000154646	ENST00000284885	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1108	0.89534	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMPRSS15	18647090	1.000000	0.71417	0.999000	0.59377	0.795000	0.44927	4.410000	0.59774	2.575000	0.86900	0.655000	0.94253	.		0.348	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	Intron	A	19725219	C	A	19725219	5	1	95	1	0	0	0	0	0	0	1	0	16251	521	18	4	1951	4	TMPRSS15	21	19725219	Splice_Site	SNP	C	TCGA-AK-3430-01A-01D-1251-10		19725219	28404676	66	6300											
GAB4	128954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	17472966	17472966	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr22:17472966C>G	ENST00000400588.1	-	2	382	c.275G>C	c.(274-276)cGc>cCc	p.R92P	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.R92P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGATGGTGCGCAGGGGCTT	0.502																																																1	Substitution - Missense(1)	kidney(1)											211	222	218					22																	17472966		2195	4300	6495	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.275G>C	22.37:g.17472966C>G	ENSP00000383431:p.Arg92Pro			Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881448	0.33255	.	.	ENSG00000215568	ENST00000400588	T	0.12569	2.67	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000001	T	0.34221	0.0890	M	0.80746	2.51	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.15292	-1.0442	10	0.54805	T	0.06	.	9.5993	0.39593	0.0:1.0:0.0:0.0	.	92	Q2WGN9	GAB4_HUMAN	P	92	ENSP00000383431:R92P	ENSP00000383431:R92P	R	-	2	0	GAB4	15852966	1.000000	0.71417	0.953000	0.39169	0.042000	0.13812	6.911000	0.75746	1.301000	0.44836	0.591000	0.81541	CGC		0.502	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		G	17472966	C	G	17472966	3	3	95	1	0	0	0	0	1	0	0	0	6153	768	27	4	1485	4	GAB4	22	17472966	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10		17472966	33831600	67	6301											
IGLL1	3543	broad.mit.edu;ucsc.edu	37	22	23915501	23915501	+	Silent	SNP	G	G	A	rs1064418	byFrequency	TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr22:23915501G>A	ENST00000330377.2	-	3	711	c.594C>T	c.(592-594)caC>caT	p.H198H	AP000345.2_ENST00000454863.1_RNA|AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	198	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.H198H(1)		kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TGCTCCCTTCGTGCATGACCT	0.632													g|||	2	0.000399361	0.0008	0.0	5008	,	,		17185	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											73	69	71					22																	23915501		2203	4300	6503	SO:0001819	synonymous_variant	3543			X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.594C>T	22.37:g.23915501G>A			Q0P681	Silent	SNP	ENST00000330377.2	37	CCDS13809.1																																																																																				0.632	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		A	23915501	G	A	23915501	2	1	95	1	0	0	0	0	0	0	0	1	7595	1136	40	1		1	IGLL1	22	23915501	Silent	SNP	G	TCGA-AK-3430-01A-01D-1251-10	6442535	23915501	27389065	68	6302											
SGSM1	129049	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	25282686	25282686	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chr22:25282686A>C	ENST00000400359.4	+	17	1933	c.1926A>C	c.(1924-1926)gaA>gaC	p.E642D	SGSM1_ENST00000400358.4_Missense_Mutation_p.E587D	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	642	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.E642D(1)|p.E587D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGGAAACAGAAAGGAAAGAGG	0.592																																																2	Substitution - Missense(2)	kidney(2)											21	20	20					22																	25282686		1983	4148	6131	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1926A>C	22.37:g.25282686A>C	ENSP00000383212:p.Glu642Asp		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649922	0.47362	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.04809	3.55;3.55	5.85	-11.7	0.00046	Rab-GAP/TBC domain (2);	0.390997	0.32852	N	0.005573	T	0.02455	0.0075	L	0.31294	0.92	0.43399	D	0.995528	B;B;B;B	0.14438	0.01;0.003;0.007;0.0	B;B;B;B	0.15484	0.004;0.006;0.013;0.001	T	0.46091	-0.9216	10	0.36615	T	0.2	-5.3417	8.7397	0.34550	0.1377:0.1794:0.618:0.0648	.	587;703;720;642	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	D	703;587;642	ENSP00000383211:E587D;ENSP00000383212:E642D	ENSP00000383211:E587D	E	+	3	2	SGSM1	23612686	0.213000	0.23551	0.094000	0.20943	0.746000	0.42486	-0.542000	0.06091	-2.563000	0.00472	-0.290000	0.09829	GAA		0.592	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		C	25282686	A	C	25282686	3	2	95	1	0	0	0	0	1	0	0	0	14228	11	1	5	1992	5	SGSM1	22	25282686	Missense_Mutation	SNP	A	TCGA-AK-3430-01A-01D-1251-10	1367185	25282686	26021880	69	6303											
EGFL6	25975	broad.mit.edu;hgsc.bcm.edu	37	X	13636139	13636139	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chrX:13636139A>T	ENST00000361306.1	+	8	1326	c.1069A>T	c.(1069-1071)Ata>Tta	p.I357L	EGFL6_ENST00000380602.3_Missense_Mutation_p.I357L	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	357					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.I357L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GAAGAATGACATAGAGGAGCG	0.393																																																2	Substitution - Missense(2)	kidney(2)											49	52	51					X																	13636139		2203	4298	6501	SO:0001583	missense	25975			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1069A>T	X.37:g.13636139A>T	ENSP00000355126:p.Ile357Leu		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	A	4.588	0.109305	0.08780	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.71461	-0.57;-0.44	5.49	1.94	0.25998	.	0.965368	0.08608	N	0.920387	T	0.59293	0.2183	L	0.38175	1.15	0.09310	N	1	B;B	0.22983	0.013;0.078	B;B	0.19391	0.012;0.025	T	0.44190	-0.9344	10	0.27785	T	0.31	.	9.1895	0.37191	0.5093:0.0:0.4907:0.0	.	357;357	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	L	357	ENSP00000355126:I357L;ENSP00000369976:I357L	ENSP00000355126:I357L	I	+	1	0	EGFL6	13546060	0.060000	0.20803	0.001000	0.08648	0.218000	0.24690	0.406000	0.21032	0.417000	0.25871	-0.456000	0.05471	ATA		0.393	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		T	13636139	A	T	13636139	3	4	95	1	0	0	0	0	1	0	0	0	4965	217	8	5	1099	5	EGFL6	23	13636139	Missense_Mutation	SNP	A	TCGA-AK-3430-01A-01D-1251-10		13636139	141634421	70	6304											
SHROOM4	57477	hgsc.bcm.edu	37	X	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT	rs201922875|rs553160982		TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ|SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																0										12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SO:0001652	inframe_insertion	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup		A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	ENST00000289292.7	37	CCDS35277.1																																																																																				0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		TGCTGCTGCTGT	50350759	-	TGCTGCTGCTGT	50350758	7	5	95	1	0	1	1	0	0	0	0	0	14302	912	32	0	1113	0	SHROOM4	23	50350758	In_Frame_Ins	INS	-	TCGA-AK-3430-01A-01D-1251-10	36714619	50350758	104919802	71	6305											
KDM5C	8242	hgsc.bcm.edu	37	X	53223905	53223905	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chrX:53223905C>T	ENST00000375401.3	-	23	3986	c.3454G>A	c.(3454-3456)Gag>Aag	p.E1152K	KDM5C_ENST00000452825.3_Missense_Mutation_p.E1085K|KDM5C_ENST00000404049.3_Missense_Mutation_p.E1151K|KDM5C_ENST00000375379.3_Missense_Mutation_p.E1152K|KDM5C_ENST00000375383.3_Missense_Mutation_p.E1111K	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1152					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGTTCCCCCTCCTTGAAGGCC	0.607			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													169	119	136					X																	53223905		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3454G>A	X.37:g.53223905C>T	ENSP00000364550:p.Glu1152Lys		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.184278	0.78677	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.86694	-2.16;-1.87;-1.87;-1.87;-2.01	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.92763	0.7699	M	0.80616	2.505	0.47737	D	0.999505	D;D;D	0.67145	0.996;0.985;0.985	D;P;P	0.67900	0.954;0.901;0.901	D	0.93636	0.6960	10	0.66056	D	0.02	-19.4892	14.082	0.64929	0.0:1.0:0.0:0.0	.	1085;1151;1152	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	K	1085;1152;1151;1152;1111	ENSP00000445176:E1085K;ENSP00000364550:E1152K;ENSP00000385394:E1151K;ENSP00000364528:E1152K;ENSP00000364532:E1111K	ENSP00000364528:E1152K	E	-	1	0	KDM5C	53240630	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.600000	0.67599	1.893000	0.54813	0.525000	0.51046	GAG		0.607	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		T	53223905	C	T	53223905	3	4	95	1	0	0	0	0	1	0	0	0	8137	864	30	2	1342	2	KDM5C	23	53223905	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	2873147	53223905	102046655	72	6306											
BHLHB9	80823	broad.mit.edu;hgsc.bcm.edu	37	X	102004560	102004560	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chrX:102004560G>A	ENST00000372735.1	+	4	1222	c.637G>A	c.(637-639)Gac>Aac	p.D213N	BHLHB9_ENST00000447531.1_Missense_Mutation_p.D213N|BHLHB9_ENST00000448867.1_Missense_Mutation_p.D213N|BHLHB9_ENST00000361229.4_Missense_Mutation_p.D213N|BHLHB9_ENST00000457056.1_Missense_Mutation_p.D213N			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	213					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.D213N(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TAGGCCCAAGGACTGGTCTGA	0.463																																																1	Substitution - Missense(1)	kidney(1)											117	121	120					X																	102004560		2203	4300	6503	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.637G>A	X.37:g.102004560G>A	ENSP00000361820:p.Asp213Asn		Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142946	0.37825	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	4.59	3.73	0.42828	.	0.315958	0.22869	N	0.054653	T	0.14570	0.0352	L	0.51422	1.61	0.26891	N	0.967312	D	0.54047	0.964	P	0.45310	0.476	T	0.08472	-1.0720	9	.	.	.	-17.8257	7.6784	0.28499	0.1138:0.0:0.8862:0.0	.	213	Q6PI77	BHLH9_HUMAN	N	213	ENSP00000403226:D213N;ENSP00000354675:D213N;ENSP00000405893:D213N;ENSP00000391722:D213N;ENSP00000361820:D213N	.	D	+	1	0	BHLHB9	101891216	1.000000	0.71417	0.936000	0.37596	0.959000	0.62525	2.247000	0.43151	1.283000	0.44513	0.597000	0.82753	GAC		0.463	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		A	102004560	G	A	102004560	3	1	95	1	0	0	0	0	1	0	0	0	1420	1174	41	2	639	2	BHLHB9	23	102004560	Missense_Mutation	SNP	G	TCGA-AK-3430-01A-01D-1251-10	48780655	102004560	53266000	73	6307											
HCFC1	3054	hgsc.bcm.edu	37	X	153222971	153222972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chrX:153222971_153222972insG	ENST00000310441.7	-	13	3112_3113	c.2146_2147insC	c.(2146-2148)ctgfs	p.L716fs	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Frame_Shift_Ins_p.L647fs|HCFC1_ENST00000369984.4_Frame_Shift_Ins_p.L716fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	716	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCGCTGGCAGGGGCCCTTTG	0.644																																																0																																										SO:0001589	frameshift_variant	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2147dupC	X.37:g.153222975_153222975dupG	ENSP00000309555:p.Leu716fs		Q6P4G5	Frame_Shift_Ins	INS	ENST00000310441.7	37	CCDS44020.1																																																																																				0.644	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		G	153222972	-	G	153222971	7	5	95	1	0	1	1	0	0	0	0	0	6993	188	7	0	4016	0	HCFC1	23	153222971	Frame_Shift_Ins	INS	-	TCGA-AK-3430-01A-01D-1251-10	51218411	153222971	2047589	74	6308											
RAB39B	116442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	154490261	154490261	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3430-01A-01D-1251-10	TCGA-AK-3430-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d9a311d-7ca1-4021-95dc-0d6716917938	239a2754-4a2e-48d1-89eb-3c91161fb67e	g.chrX:154490261C>T	ENST00000369454.3	-	2	769	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	157					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.A157T(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACATTAATGGCATCTCGGGCT	0.512																																																1	Substitution - Missense(1)	kidney(1)											108	86	94					X																	154490261		2203	4300	6503	SO:0001583	missense	116442			AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"RAB, member RAS oncogene"	16499	protein-coding gene	gene with protein product		300774	"mental retardation, X-linked 72"	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.469G>A	X.37:g.154490261C>T	ENSP00000358466:p.Ala157Thr		Q5JT79|Q8NEX3	Missense_Mutation	SNP	ENST00000369454.3	37	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692578	0.88735	.	.	ENSG00000155961	ENST00000369454	T	0.79845	-1.31	5.17	5.17	0.71159	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	L	0.41710	1.295	0.58432	D	0.999994	P	0.41366	0.747	P	0.45232	0.474	T	0.81782	-0.0775	10	0.87932	D	0	.	15.2574	0.73596	0.0:1.0:0.0:0.0	.	157	Q96DA2	RB39B_HUMAN	T	157	ENSP00000358466:A157T	ENSP00000358466:A157T	A	-	1	0	RAB39B	154143455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.420000	0.80191	2.280000	0.76307	0.513000	0.50165	GCC		0.512	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		T	154490261	C	T	154490261	3	4	95	1	0	0	0	0	1	0	0	0	12936	710	25	2	176	2	RAB39B	23	154490261	Missense_Mutation	SNP	C	TCGA-AK-3430-01A-01D-1251-10	1267290	154490261	780299	75	6309											
VHL	7428	hgsc.bcm.edu	37	3	10183746	10183746	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3430-01A-01W-1244-10	TCGA-AK-3430-10A-01W-1244-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	e06607ae-d7b1-4109-9e18-f42b3cc518e2	012aa7b4-8d61-4f85-9a3a-64cdb9f62ac0	g.chr3:10183746delC	ENST00000256474.2	+	1	1055	c.215delC	c.(214-216)tccfs	p.S72fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Del_p.S72fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	72			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E70fs*85(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.Q73fs*86(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.P71fs*56(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCGAGCCCTCCCAGGTCATC	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Deletion - Frameshift(6)|Complex - deletion inframe(1)|Deletion - In frame(1)	kidney(7)|soft_tissue(1)											10	13	12					3																	10183746		2151	4223	6374	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.215delC	3.37:g.10183746delC	ENSP00000256474:p.Ser72fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183746	C	-	10183746	7	5	96	1	0	1	0	1	0	0	0	0	17167	855	30	0	217	0	VHL	3	10183746	Frame_Shift_Del	DEL	C	TCGA-AK-3430-01A-01W-1244-10		10183746	187838684	1	6310											
MED18	54797	hgsc.bcm.edu;ucsc.edu	37	1	28657186	28657186	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr1:28657186C>A	ENST00000373842.4	+	2	222	c.13C>A	c.(13-15)Cca>Aca	p.P5T	MED18_ENST00000398997.2_Missense_Mutation_p.P5T|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	5						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGCACCTCCAGTCACCAT	0.488																																																0													138	118	124					1																	28657186		2203	4300	6503	SO:0001583	missense	54797			BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.13C>A	1.37:g.28657186C>A	ENSP00000362948:p.Pro5Thr		D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	37	CCDS322.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967069	0.92855	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	L	0.36672	1.1	0.36637	D	0.876611	P	0.48911	0.917	P	0.54238	0.746	T	0.61797	-0.6989	9	0.25751	T	0.34	-9.4002	18.05	0.89344	0.0:1.0:0.0:0.0	.	5	Q9BUE0	MED18_HUMAN	T	5	.	ENSP00000362948:P5T	P	+	1	0	MED18	28529773	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.900000	0.75687	2.563000	0.86464	0.655000	0.94253	CCA		0.488	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		A	28657186	C	A	28657186	3	1	97	1	0	0	0	0	1	0	0	0	9438	855	30	4	15	4	MED18	1	28657186	Missense_Mutation	SNP	C	TCGA-AK-3431-01A-02D-1361-10		28657186	220593435	1	6311											
AK5	26289	hgsc.bcm.edu	37	1	77759516	77759516	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr1:77759516G>T	ENST00000354567.2	+	3	549	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	AK5_ENST00000344720.5_Missense_Mutation_p.D70Y|AK5_ENST00000317704.4_Intron	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	96					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TCGGCGGTATGACCGGCTCCC	0.408																																																0													62	65	64					1																	77759516		2203	4300	6503	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.286G>T	1.37:g.77759516G>T	ENSP00000346577:p.Asp96Tyr		Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552208	0.86127	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.83755	-0.67;-0.67;-1.76	5.13	5.13	0.70059	.	0.055248	0.64402	D	0.000001	D	0.82926	0.5143	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.85790	0.1367	10	0.87932	D	0	-5.5794	18.9488	0.92632	0.0:0.0:1.0:0.0	.	96	Q9Y6K8	KAD5_HUMAN	Y	96;70;70	ENSP00000346577:D96Y;ENSP00000341430:D70Y;ENSP00000434409:D70Y	ENSP00000341430:D70Y	D	+	1	0	AK5	77532104	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.553000	0.82203	2.568000	0.86640	0.561000	0.74099	GAC		0.408	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		T	77759516	G	T	77759516	3	4	97	1	0	0	0	0	1	0	0	0	443	1290	45	4	296	4	AK5	1	77759516	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10	49102330	77759516	171491105	2	6312											
GBP4	115361	hgsc.bcm.edu;ucsc.edu	37	1	89656967	89656967	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr1:89656967T>A	ENST00000355754.6	-	6	990	c.893A>T	c.(892-894)gAg>gTg	p.E298V		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	298	GTPase domain (Globular). {ECO:0000250}.			E -> K (in Ref. 5; AAH70055). {ECO:0000305}.		cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AATGATTCCCTCTCTCAGGGT	0.433																																																0													124	131	128					1																	89656967		2203	4300	6503	SO:0001583	missense	115361			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.893A>T	1.37:g.89656967T>A	ENSP00000359490:p.Glu298Val		B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	CCDS721.1	.	.	.	.	.	.	.	.	.	.	T	7.680	0.688813	0.14973	.	.	ENSG00000162654	ENST00000355754	T	0.02421	4.3	5.28	-3.49	0.04724	Guanylate-binding protein, C-terminal (3);	0.670897	0.14702	N	0.303540	T	0.06872	0.0175	M	0.90145	3.09	0.09310	N	1	D	0.57257	0.979	P	0.60473	0.875	T	0.01027	-1.1476	10	0.72032	D	0.01	.	13.5174	0.61549	0.0:0.6436:0.0:0.3564	.	298	Q96PP9	GBP4_HUMAN	V	298	ENSP00000359490:E298V	ENSP00000359490:E298V	E	-	2	0	GBP4	89429555	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.387000	0.20718	-0.517000	0.06461	-0.250000	0.11733	GAG		0.433	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		A	89656967	T	A	89656967	3	1	97	1	0	0	0	0	1	0	0	0	6278	1551	54	5	1053	5	GBP4	1	89656967	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10	11897451	89656967	159593654	3	6313											
CCDC18	343099	hgsc.bcm.edu	37	1	93672722	93672722	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr1:93672722A>C	ENST00000343253.7	+	9	1478	c.976A>C	c.(976-978)Aat>Cat	p.N326H	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.N326H|CCDC18_ENST00000557479.1_Missense_Mutation_p.N444H|CCDC18_ENST00000338949.4_Missense_Mutation_p.N125H			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	326				N -> T (in Ref. 1; BAC86410). {ECO:0000305}.						breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGCAGTGAAAAATTCAGAAGT	0.294																																																0													43	39	40					1																	93672722		1827	4075	5902	SO:0001583	missense	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.976A>C	1.37:g.93672722A>C	ENSP00000343377:p.Asn326His		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.965113|3.965113	0.74131|0.74131	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	.|T	.|0.17370	.|2.28	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.161555	.|0.56097	.|D	.|0.000039	T|T	0.21761|0.21761	0.0524|0.0524	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|P;D	.|0.53885	.|0.912;0.963	.|P;P	.|0.60473	.|0.717;0.875	T|T	0.04900|0.04900	-1.0919|-1.0919	6|10	0.46703|0.14656	T|T	0.11|0.56	.|.	14.7698|14.7698	0.69668|0.69668	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|326;444	.|Q5T9S5;G3V388	.|CCD18_HUMAN;.	N|H	379|326;326;444;125;46	.|ENSP00000391151:N46H	ENSP00000359299:K379N|ENSP00000344380:N125H	K|N	+|+	3|1	2|0	CCDC18|CCDC18	93445310|93445310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	5.544000|5.544000	0.67231|0.67231	2.230000|2.230000	0.72887|0.72887	0.454000|0.454000	0.30748|0.30748	AAA|AAT		0.294	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		C	93672722	A	C	93672722	3	2	97	1	0	0	0	0	1	0	0	0	2796	14	1	5	1364	5	CCDC18	1	93672722	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	4015755	93672722	155577899	4	6314											
C1orf161	126868	hgsc.bcm.edu	37	1	116670806	116670806	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr1:116670806G>A	ENST00000369500.3	+	6	966	c.701G>A	c.(700-702)tGg>tAg	p.W234*	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	234										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AATTATCACTGGCAGCTGAGC	0.463																																																0													102	107	105					1																	116670806		2203	4300	6503	SO:0001587	stop_gained	0			AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 161"	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.701G>A	1.37:g.116670806G>A	ENSP00000358512:p.Trp234*		Q5TDL7	Nonsense_Mutation	SNP	ENST00000369500.3	37	CCDS886.1	.	.	.	.	.	.	.	.	.	.	G	37	6.517354	0.97629	.	.	ENSG00000173212	ENST00000369500	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4148	19.6081	0.95588	0.0:0.0:1.0:0.0	.	.	.	.	X	234	.	ENSP00000358512:W234X	W	+	2	0	MAB21L3	116472329	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.449000	0.80643	2.652000	0.90054	0.591000	0.81541	TGG		0.463	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		A	116670806	G	A	116670806	4	1	97	1	0	0	0	0	0	1	0	0	2011	1357	47	2	719	2	C1orf161	1	116670806	Nonsense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10	22998084	116670806	132579815	5	6315											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144864284	144864284	+	Silent	SNP	C	C	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr1:144864284C>G	ENST00000369354.3	-	36	6000	c.5811G>C	c.(5809-5811)ctG>ctC	p.L1937L	PDE4DIP_ENST00000369356.4_Silent_p.L1937L|PDE4DIP_ENST00000313382.9_Silent_p.L1831L|PDE4DIP_ENST00000369359.4_Silent_p.L2073L|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.L2022L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1937					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCGAGAGGACAGCAGAGCCT	0.532			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													107	115	113					1																	144864284		2203	4298	6501	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5811G>C	1.37:g.144864284C>G			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	1.214	-0.628822	0.03610	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.52	-5.36	0.02689	.	.	.	.	.	T	0.14013	0.0339	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	.	10.6496	0.45640	0.0944:0.1679:0.6638:0.0739	.	.	.	.	S	94	.	.	C	-	2	0	PDE4DIP	143575641	0.002000	0.14202	0.001000	0.08648	0.395000	0.30598	-0.546000	0.06062	-1.150000	0.02840	-0.182000	0.12963	TGT		0.532	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		G	144864284	C	G	144864284	2	3	97	1	0	0	0	0	0	0	0	1	11645	465	17	4		4	PDE4DIP	1	144864284	Silent	SNP	C	TCGA-AK-3431-01A-02D-1361-10	28193478	144864284	104386337	6	6316											
NCSTN	23385	hgsc.bcm.edu	37	1	160313253	160313253	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr1:160313253T>A	ENST00000294785.5	+	1	192	c.67T>A	c.(67-69)Ttc>Atc	p.F23I	NCSTN_ENST00000368063.1_5'UTR|NCSTN_ENST00000535857.1_Missense_Mutation_p.F23I|COPA_ENST00000368069.3_5'Flank|COPA_ENST00000241704.7_5'Flank|NCSTN_ENST00000392212.4_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	23					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTCTGTCTTTCTGCGTCCT	0.667																																																0													32	41	38					1																	160313253		2203	4300	6503	SO:0001583	missense	23385			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.67T>A	1.37:g.160313253T>A	ENSP00000294785:p.Phe23Ile		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220326	0.39201	.	.	ENSG00000162736	ENST00000294785;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008	T;T;T;T;T	0.79033	-1.01;-0.17;-0.03;-0.03;-1.23	5.08	5.08	0.68730	.	0.140373	0.46145	D	0.000311	T	0.36166	0.0957	N	0.14661	0.345	0.80722	D	1	B;B	0.28291	0.206;0.075	B;B	0.28011	0.085;0.016	T	0.42865	-0.9426	10	0.05833	T	0.94	-12.6194	7.4666	0.27324	0.0:0.0939:0.0:0.9061	.	23;23	F6Y097;Q92542	.;NICA_HUMAN	I	23	ENSP00000294785:F23I;ENSP00000415442:F23I;ENSP00000390409:F23I;ENSP00000442605:F23I;ENSP00000389370:F23I	ENSP00000294785:F23I	F	+	1	0	NCSTN	158579877	0.828000	0.29307	1.000000	0.80357	0.854000	0.48673	1.599000	0.36751	2.124000	0.65301	0.533000	0.62120	TTC		0.667	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		A	160313253	T	A	160313253	3	1	97	1	0	0	0	0	1	0	0	0	10243	1841	64	5	69	5	NCSTN	1	160313253	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10	15448969	160313253	88937368	7	6317											
PIK3C2B	5287	hgsc.bcm.edu	37	1	204399130	204399130	+	Silent	SNP	T	T	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr1:204399130T>G	ENST00000367187.3	-	30	4873	c.4317A>C	c.(4315-4317)ggA>ggC	p.G1439G	PIK3C2B_ENST00000424712.2_Silent_p.G1411G|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1439	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCACCGCCTCTCCCCGGGAGC	0.642																																																0													40	38	39					1																	204399130		2203	4299	6502	SO:0001819	synonymous_variant	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4317A>C	1.37:g.204399130T>G			O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	CCDS1446.1																																																																																				0.642	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		G	204399130	T	G	204399130	2	3	97	1	0	0	0	0	0	0	0	1	11912	1538	54	5		5	PIK3C2B	1	204399130	Silent	SNP	T	TCGA-AK-3431-01A-02D-1361-10	44085877	204399130	44851491	8	6318											
LPIN1	23175	hgsc.bcm.edu;ucsc.edu	37	2	11932122	11932122	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr2:11932122C>T	ENST00000256720.2	+	12	1781	c.1688C>T	c.(1687-1689)aCa>aTa	p.T563I	LPIN1_ENST00000425416.2_Missense_Mutation_p.T569I|LPIN1_ENST00000396097.1_Missense_Mutation_p.T293I|LPIN1_ENST00000396099.1_Missense_Mutation_p.T605I|LPIN1_ENST00000404113.2_Missense_Mutation_p.T64I|LPIN1_ENST00000449576.2_Missense_Mutation_p.T648I	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	563					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AGAAACACCACAATCAAGGAG	0.423																																																0													81	76	77					2																	11932122		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1688C>T	2.37:g.11932122C>T	ENSP00000256720:p.Thr563Ile		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	8.285	0.816388	0.16607	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.81078	-1.45;-1.44;-1.43;-1.43;-1.27;-0.4;0.47	5.09	5.09	0.68999	.	0.182212	0.56097	D	0.000021	T	0.69842	0.3156	L	0.40543	1.245	0.33129	D	0.542874	B;P;B	0.36315	0.0;0.547;0.047	B;B;B	0.36244	0.002;0.22;0.042	T	0.73531	-0.3953	10	0.24483	T	0.36	-21.7919	8.0372	0.30499	0.1589:0.7612:0.0:0.0798	.	64;648;563	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	I	648;605;569;563;293;64;90	ENSP00000397908:T648I;ENSP00000379406:T605I;ENSP00000401522:T569I;ENSP00000256720:T563I;ENSP00000379404:T293I;ENSP00000386120:T64I;ENSP00000413714:T90I	ENSP00000256720:T563I	T	+	2	0	LPIN1	11849573	0.840000	0.29493	0.970000	0.41538	0.872000	0.50106	1.356000	0.34079	2.368000	0.80403	0.561000	0.74099	ACA		0.423	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		T	11932122	C	T	11932122	3	4	97	1	0	0	0	0	1	0	0	0	8920	478	17	2	1730	2	LPIN1	2	11932122	Missense_Mutation	SNP	C	TCGA-AK-3431-01A-02D-1361-10		11932122	231267251	9	6319											
ZC3H6	376940	hgsc.bcm.edu;ucsc.edu	37	2	113080286	113080286	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr2:113080286A>G	ENST00000409871.1	+	9	1548	c.1147A>G	c.(1147-1149)Aag>Gag	p.K383E	ZC3H6_ENST00000343936.4_Missense_Mutation_p.K383E	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	383							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GGAACTTAGAAAGCGTGGCAT	0.413																																																0													106	106	106					2																	113080286		1819	4070	5889	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1147A>G	2.37:g.113080286A>G	ENSP00000386764:p.Lys383Glu		A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.783648	0.90282	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.55234	0.53;0.53	5.73	5.73	0.89815	.	0.094359	0.64402	D	0.000001	T	0.56031	0.1958	M	0.64404	1.975	0.49687	D	0.999813	P	0.52316	0.952	P	0.44518	0.452	T	0.63202	-0.6690	10	0.87932	D	0	-11.5848	16.0209	0.80493	1.0:0.0:0.0:0.0	.	383	P61129	ZC3H6_HUMAN	E	383;383;360	ENSP00000386764:K383E;ENSP00000340298:K383E	ENSP00000340298:K383E	K	+	1	0	ZC3H6	112796757	1.000000	0.71417	0.259000	0.24435	0.997000	0.91878	8.730000	0.91510	2.186000	0.69663	0.459000	0.35465	AAG		0.413	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		G	113080286	A	G	113080286	3	3	97	1	0	0	0	0	1	0	0	0	17576	15	1	3	1181	3	ZC3H6	2	113080286	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	101148164	113080286	130119087	10	6320											
ZNF804A	91752	hgsc.bcm.edu;ucsc.edu	37	2	185800961	185800961	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr2:185800961C>A	ENST00000302277.6	+	4	1432	c.838C>A	c.(838-840)Cca>Aca	p.P280T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	280							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTCTTTTCATCCACCAGAGGC	0.368																																																0													65	61	62					2																	185800961		2203	4299	6502	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.838C>A	2.37:g.185800961C>A	ENSP00000303252:p.Pro280Thr		A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223484	0.39300	.	.	ENSG00000170396	ENST00000302277	T	0.07800	3.16	5.57	0.745	0.18359	.	0.628414	0.15042	N	0.283795	T	0.06826	0.0174	L	0.47716	1.5	0.09310	N	1	B	0.24132	0.098	B	0.24006	0.05	T	0.31392	-0.9945	10	0.52906	T	0.07	-5.3944	2.3685	0.04324	0.1222:0.4554:0.2092:0.2133	.	280	Q7Z570	Z804A_HUMAN	T	280	ENSP00000303252:P280T	ENSP00000303252:P280T	P	+	1	0	ZNF804A	185509206	0.002000	0.14202	0.286000	0.24833	0.815000	0.46073	-0.024000	0.12435	0.702000	0.31825	0.591000	0.81541	CCA		0.368	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		A	185800961	C	A	185800961	3	1	97	1	0	0	0	0	1	0	0	0	18175	855	30	4	852	4	ZNF804A	2	185800961	Missense_Mutation	SNP	C	TCGA-AK-3431-01A-02D-1361-10	72720675	185800961	57398412	11	6321											
MOBKL3	25843	hgsc.bcm.edu	37	2	198380863	198380863	+	Missense_Mutation	SNP	A	A	T	rs200842222		TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr2:198380863A>T	ENST00000323303.4	+	1	308	c.53A>T	c.(52-54)aAg>aTg	p.K18M	MOB4_ENST00000448447.2_Missense_Mutation_p.K18M|HSPE1-MOB4_ENST00000604458.1_Intron|MOB4_ENST00000233892.4_Intron|MOB4_ENST00000409360.1_5'Flank|MOB4_ENST00000409916.1_Intron|MOB4_ENST00000497443.1_3'UTR	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	18					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										CCGGGCACCAAGGCGCAGGTA	0.672																																																0													47	47	47					2																	198380863		2202	4297	6499	SO:0001583	missense	0			AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"MOB kinase activators"	17261	protein-coding gene	gene with protein product	"phocein", "phocein, Mob-like protein"	609361	"preimplantation protein 3", "MOB1, Mps One Binder kinase activator-like 3 (yeast)"	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.53A>T	2.37:g.198380863A>T	ENSP00000315702:p.Lys18Met		B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936236	0.92458	.	.	ENSG00000115540	ENST00000323303;ENST00000448447	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	.	.	.	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.65773	0.938;0.815	T	0.81274	-0.1007	8	0.87932	D	0	.	14.0844	0.64947	1.0:0.0:0.0:0.0	.	18;18	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	M	18	.	ENSP00000315702:K18M	K	+	2	0	PHOCN	198089108	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.840000	0.62817	2.056000	0.61249	0.533000	0.62120	AAG		0.672	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387		T	198380863	A	T	198380863	3	4	97	1	0	0	0	0	1	0	0	0	9689	72	3	5	55	5	MOBKL3	2	198380863	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	12579902	198380863	44818510	12	6322											
STRADB	55437	hgsc.bcm.edu;ucsc.edu	37	2	202340447	202340447	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr2:202340447A>T	ENST00000194530.3	+	7	895	c.530A>T	c.(529-531)cAa>cTa	p.Q177L	STRADB_ENST00000392249.2_Missense_Mutation_p.Q177L	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						TATCTGCACCAAAATGGCTGT	0.353																																																0													116	118	117					2																	202340447		2203	4300	6503	SO:0001583	missense	55437			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.530A>T	2.37:g.202340447A>T	ENSP00000194530:p.Gln177Leu		Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	CCDS2348.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823834	0.71143	.	.	ENSG00000082146	ENST00000458269;ENST00000194530;ENST00000539670;ENST00000392249;ENST00000392866	T;T;T	0.65916	-0.18;2.72;2.72	5.65	4.49	0.54785	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055417	0.85682	D	0.000000	T	0.66237	0.2769	L	0.54908	1.71	0.51012	D	0.999906	D	0.57257	0.979	P	0.52343	0.696	T	0.67991	-0.5527	10	0.59425	D	0.04	.	11.7461	0.51821	0.9309:0.0:0.0691:0.0	.	177	Q9C0K7	STRAB_HUMAN	L	122;177;177;177;39	ENSP00000409552:Q122L;ENSP00000194530:Q177L;ENSP00000376080:Q177L	ENSP00000194530:Q177L	Q	+	2	0	STRADB	202048692	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.761000	0.62243	1.076000	0.40961	0.460000	0.39030	CAA		0.353	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		T	202340447	A	T	202340447	3	4	97	1	0	0	0	0	1	0	0	0	15330	130	5	5	552	5	STRADB	2	202340447	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	3959584	202340447	40858926	13	6323											
ZNF142	7701	hgsc.bcm.edu;ucsc.edu	37	2	219508795	219508795	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr2:219508795G>C	ENST00000449707.1	-	8	2865	c.2444C>G	c.(2443-2445)gCa>gGa	p.A815G	ZNF142_ENST00000411696.2_Missense_Mutation_p.A815G	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	815					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAATGCCTCTGCTTGTTCTTT	0.572																																					Colon(170;867 1942 8995 15834 18053)											0													204	217	213					2																	219508795		2110	4227	6337	SO:0001583	missense	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2444C>G	2.37:g.219508795G>C	ENSP00000408643:p.Ala815Gly		Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320452	0.81469	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.23950	1.88;1.88	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	L	0.34521	1.04	0.58432	D	0.999994	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.04752	-1.0929	10	0.30854	T	0.27	-32.6013	18.9765	0.92738	0.0:0.0:1.0:0.0	.	815;652	P52746;A8MWU9	ZN142_HUMAN;.	G	815	ENSP00000408643:A815G;ENSP00000398798:A815G	ENSP00000398798:A815G	A	-	2	0	ZNF142	219217039	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.816000	0.86201	2.720000	0.93068	0.655000	0.94253	GCA		0.572	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		C	219508795	G	C	219508795	3	2	97	1	0	0	0	0	1	0	0	0	17736	1319	46	4	2631	4	ZNF142	2	219508795	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10	17168348	219508795	23690578	14	6324											
SETD2	29072	ucsc.edu	37	3	47058655	47058661	+	Frame_Shift_Del	DEL	CTTGGTT	CTTGGTT	-			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	CTTGGTT	CTTGGTT	CTTGGTT	-	CTTGGTT	CTTGGTT	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr3:47058655_47058661delCTTGGTT	ENST00000409792.3	-	21	7659_7665	c.7617_7623delAACCAAG	c.(7615-7623)aaaaccaagfs	p.KTK2539fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2539	Interaction with POLR2A.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TAATGTACTCCTTGGTTTTGTGTTTCA	0.473			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7617_7623delAACCAAG	3.37:g.47058655_47058661delCTTGGTT	ENSP00000386759:p.Lys2539fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																				0.473	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47058661	CTTGGTT	-	47058655	7	5	97	1	0	1	0	1	0	0	0	0	14137	680	24	0	75	0	SETD2	3	47058655	Frame_Shift_Del	DEL	CTTGGTT	TCGA-AK-3431-01A-02D-1361-10		47058655	150963775	15	6325											
ATRIP	84126	hgsc.bcm.edu	37	3	48506401	48506401	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr3:48506401G>T	ENST00000320211.3	+	12	2340	c.2227G>T	c.(2227-2229)Gag>Tag	p.E743*	TREX1_ENST00000422277.2_5'Flank|ATRIP_ENST00000412052.1_Nonsense_Mutation_p.E650*|ATRIP_ENST00000357105.6_Nonsense_Mutation_p.E616*|TREX1_ENST00000296443.9_5'Flank|TREX1_ENST00000456089.1_5'Flank|ATRIP_ENST00000346691.4_Nonsense_Mutation_p.E716*|TREX1_ENST00000433541.1_5'Flank|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000436480.2_5'Flank|TREX1_ENST00000444177.1_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	743					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCACTGCGTGGAGGTCCTGCA	0.612								Other conserved DNA damage response genes																																								0													120	110	114					3																	48506401		2203	4300	6503	SO:0001587	stop_gained	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2227G>T	3.37:g.48506401G>T	ENSP00000323099:p.Glu743*		A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Nonsense_Mutation	SNP	ENST00000320211.3	37	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	G	40	8.132604	0.98670	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	.	.	.	5.51	5.51	0.81932	.	0.268514	0.41823	D	0.000818	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.1457	16.9018	0.86116	0.0:0.0:1.0:0.0	.	.	.	.	X	743;716;616;650	.	ENSP00000323099:E743X	E	+	1	0	ATRIP	48481405	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.108000	0.77055	2.582000	0.87167	0.655000	0.94253	GAG		0.612	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		T	48506401	G	T	48506401	4	4	97	1	0	0	0	0	0	1	0	0	1205	1175	41	4	2273	4	ATRIP	3	48506401	Nonsense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10	1447746	48506401	149516029	16	6326											
PBRM1	55193	ucsc.edu	37	3	52702574	52702574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	A	-	A	A	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr3:52702574delA	ENST00000296302.7	-	3	325	c.324delT	c.(322-324)gatfs	p.D108fs	PBRM1_ENST00000409057.1_Frame_Shift_Del_p.D108fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.D108fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.D108fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.D108fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.D108fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.D108fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.D108fs			Q86U86	PB1_HUMAN	polybromo 1	108	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCAAATTAACATCATCATACT	0.318			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													90	83	85					3																	52702574		2203	4297	6500	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.324delT	3.37:g.52702574delA	ENSP00000296302:p.Asp108fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.318	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52702574	A	-	52702574	7	5	97	1	0	1	0	1	0	0	0	0	11493	214	8	0	4688	0	PBRM1	3	52702574	Frame_Shift_Del	DEL	A	TCGA-AK-3431-01A-02D-1361-10	4196173	52702574	145319856	17	6327											
CHDH	55349	hgsc.bcm.edu;ucsc.edu	37	3	53851850	53851850	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr3:53851850T>G	ENST00000315251.6	-	9	2176	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	580					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	AGGGACATCTTTGTCCCAGAG	0.582																																																0													82	64	70					3																	53851850		2203	4300	6503	SO:0001583	missense	55349			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1739A>C	3.37:g.53851850T>G	ENSP00000319851:p.Lys580Thr		Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	T	8.751	0.921284	0.17982	.	.	ENSG00000016391	ENST00000315251	T	0.22945	1.93	5.54	3.06	0.35304	.	0.758471	0.12992	N	0.422416	T	0.10937	0.0267	N	0.03238	-0.38	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.18335	-1.0340	10	0.54805	T	0.06	-10.8928	5.8069	0.18444	0.0:0.1431:0.1413:0.7156	.	580	Q8NE62	CHDH_HUMAN	T	580	ENSP00000319851:K580T	ENSP00000319851:K580T	K	-	2	0	CHDH	53826890	0.652000	0.27349	0.749000	0.31150	0.471000	0.32888	2.585000	0.46111	0.946000	0.37632	0.533000	0.62120	AAA		0.582	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		G	53851850	T	G	53851850	3	3	97	1	0	0	0	0	1	0	0	0	3335	1841	64	5	49	5	CHDH	3	53851850	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10	1149276	53851850	144170580	18	6328											
CCDC80	151887	hgsc.bcm.edu;ucsc.edu	37	3	112357946	112357946	+	Silent	SNP	G	G	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr3:112357946G>T	ENST00000206423.3	-	2	1760	c.807C>A	c.(805-807)atC>atA	p.I269I	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Silent_p.I269I	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	269					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TGATCTTCTCGATCCTACGGA	0.582																																																0													149	129	136					3																	112357946		2203	4300	6503	SO:0001819	synonymous_variant	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.807C>A	3.37:g.112357946G>T			D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	CCDS2968.1																																																																																				0.582	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		T	112357946	G	T	112357946	2	4	97	1	0	0	0	0	0	0	0	1	2856	1048	37	4		4	CCDC80	3	112357946	Silent	SNP	G	TCGA-AK-3431-01A-02D-1361-10	58506096	112357946	85664484	19	6329											
FETUB	26998	hgsc.bcm.edu;ucsc.edu	37	3	186370105	186370105	+	Silent	SNP	T	T	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr3:186370105T>G	ENST00000265029.3	+	7	935	c.834T>G	c.(832-834)ctT>ctG	p.L278L	FETUB_ENST00000539949.1_Silent_p.L130L|FETUB_ENST00000450521.1_Silent_p.L278L|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Silent_p.L213L|FETUB_ENST00000382136.3_Silent_p.L241L|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	278					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CTACAAACCTTCCCAAGGTGG	0.488																																																0													96	108	104					3																	186370105		2203	4300	6503	SO:0001819	synonymous_variant	26998			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.834T>G	3.37:g.186370105T>G			B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Silent	SNP	ENST00000265029.3	37	CCDS3279.1																																																																																				0.488	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		G	186370105	T	G	186370105	2	3	97	1	0	0	0	0	0	0	0	1	5823	1770	62	5		5	FETUB	3	186370105	Silent	SNP	T	TCGA-AK-3431-01A-02D-1361-10	74012159	186370105	11652325	20	6330											
PDE6B	5158	hgsc.bcm.edu;ucsc.edu	37	4	628559	628559	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr4:628559G>T	ENST00000496514.1	+	2	583	c.562G>T	c.(562-564)Gcg>Tcg	p.A188S	PDE6B_ENST00000255622.6_Missense_Mutation_p.A188S			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	188	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AGACGTCGTGGCGGTGATCAT	0.572																																					GBM(71;463 1194 9848 25922 46834)											0													150	117	129					4																	628559		2203	4300	6503	SO:0001583	missense	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.562G>T	4.37:g.628559G>T	ENSP00000420295:p.Ala188Ser		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425884	0.62733	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.68479	-0.33;-0.33	4.5	4.5	0.54988	GAF (2);	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	M	0.92738	3.34	0.80722	D	1	D;D	0.65815	0.995;0.994	D;D	0.68483	0.958;0.929	D	0.88744	0.3245	10	0.72032	D	0.01	.	14.6966	0.69126	0.0:0.0:1.0:0.0	.	188;188	P35913;P35913-2	PDE6B_HUMAN;.	S	188	ENSP00000255622:A188S;ENSP00000420295:A188S	ENSP00000255622:A188S	A	+	1	0	PDE6B	618559	1.000000	0.71417	0.072000	0.20136	0.263000	0.26337	9.105000	0.94246	2.059000	0.61396	0.486000	0.48141	GCG		0.572	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		T	628559	G	T	628559	3	4	97	1	0	0	0	0	1	0	0	0	11648	1203	42	4	568	4	PDE6B	4	628559	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10		628559	190525717	21	6331											
CMYA5	202333	hgsc.bcm.edu;ucsc.edu	37	5	79031960	79031960	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr5:79031960G>T	ENST00000446378.2	+	2	7403	c.7372G>T	c.(7372-7374)Gat>Tat	p.D2458Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2458					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGAGAAGAAAGATAATTTGGA	0.373																																																0													43	43	43					5																	79031960		1811	4074	5885	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7372G>T	5.37:g.79031960G>T	ENSP00000394770:p.Asp2458Tyr		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304065	0.23736	.	.	ENSG00000164309	ENST00000446378	T	0.20738	2.05	5.85	4.8	0.61643	.	1.151050	0.06404	N	0.719358	T	0.35219	0.0924	L	0.43152	1.355	0.09310	N	1	D	0.69078	0.997	P	0.55667	0.781	T	0.29427	-1.0012	10	0.62326	D	0.03	.	12.669	0.56857	0.0905:0.0:0.9095:0.0	.	2458	Q8N3K9	CMYA5_HUMAN	Y	2458	ENSP00000394770:D2458Y	ENSP00000394770:D2458Y	D	+	1	0	CMYA5	79067716	0.515000	0.26210	0.073000	0.20177	0.018000	0.09664	1.943000	0.40253	2.753000	0.94483	0.655000	0.94253	GAT		0.373	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		T	79031960	G	T	79031960	3	4	97	1	0	0	0	0	1	0	0	0	3592	942	33	4	7378	4	CMYA5	5	79031960	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10		79031960	101883300	22	6332											
FBXO9	26268	hgsc.bcm.edu	37	6	52945852	52945852	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr6:52945852A>C	ENST00000244426.6	+	5	696	c.524A>C	c.(523-525)aAa>aCa	p.K175T	FBXO9_ENST00000323557.7_Missense_Mutation_p.K165T|FBXO9_ENST00000370939.3_Missense_Mutation_p.K131T	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	175					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TCTGTGCTTAAACTGTGTCAG	0.393																																																0													127	122	124					6																	52945852		1948	4157	6105	SO:0001583	missense	26268			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"F-boxes /  "other""	13588	protein-coding gene	gene with protein product		609091	"F-box only protein 9"			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.524A>C	6.37:g.52945852A>C	ENSP00000244426:p.Lys175Thr		A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	CCDS55023.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553835	0.86231	.	.	ENSG00000112146	ENST00000498744;ENST00000370939;ENST00000323557;ENST00000244426	T;T;T	0.78003	-1.13;-1.14;-1.14	5.06	5.06	0.68205	.	0.042604	0.85682	D	0.000000	T	0.65790	0.2725	M	0.63843	1.955	0.80722	D	1	P;B;B	0.48694	0.914;0.146;0.251	B;B;B	0.42653	0.394;0.066;0.037	T	0.66504	-0.5907	10	0.21540	T	0.41	-10.7501	14.7486	0.69508	1.0:0.0:0.0:0.0	.	165;282;175	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	T	131;131;165;175	ENSP00000359977:K131T;ENSP00000326968:K165T;ENSP00000244426:K175T	ENSP00000244426:K175T	K	+	2	0	FBXO9	53053811	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.549000	0.67261	2.018000	0.59344	0.482000	0.46254	AAA		0.393	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3			C	52945852	A	C	52945852	3	2	97	1	0	0	0	0	1	0	0	0	5764	14	1	5	549	5	FBXO9	6	52945852	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10		52945852	118169215	23	6333											
FAM184A	79632	hgsc.bcm.edu	37	6	119399382	119399382	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr6:119399382T>G	ENST00000338891.7	-	1	526	c.83A>C	c.(82-84)cAg>cCg	p.Q28P	FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000522284.1_Intron|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q28P	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	28						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CCCAGCCAGCTGTGCGGTGGC	0.642																																																0													17	19	19					6																	119399382		1960	4149	6109	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.83A>C	6.37:g.119399382T>G	ENSP00000342604:p.Gln28Pro		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.412082	0.25465	.	.	ENSG00000111879	ENST00000338891;ENST00000521531	T;T	0.24723	2.43;1.84	4.66	0.55	0.17219	.	0.395933	0.21702	N	0.070404	T	0.07503	0.0189	L	0.40543	1.245	0.23095	N	0.998308	B	0.02656	0.0	B	0.04013	0.001	T	0.37663	-0.9696	10	0.24483	T	0.36	0.3941	13.1342	0.59399	0.0:0.0:0.544:0.456	.	28	Q8NB25	F184A_HUMAN	P	28	ENSP00000342604:Q28P;ENSP00000430442:Q28P	ENSP00000342604:Q28P	Q	-	2	0	FAM184A	119441081	0.974000	0.33945	0.523000	0.27875	0.580000	0.36256	0.576000	0.23744	-0.046000	0.13446	0.260000	0.18958	CAG		0.642	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		G	119399382	T	G	119399382	3	3	97	1	0	0	0	0	1	0	0	0	5513	1580	55	5	3411	5	FAM184A	6	119399382	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10	66453530	119399382	51715685	24	6334											
PEX3	8504	hgsc.bcm.edu;ucsc.edu	37	6	143780242	143780242	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr6:143780242T>C	ENST00000367591.4	+	2	157	c.94T>C	c.(94-96)Tat>Cat	p.Y32H		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	32	Targeting to peroxisomes.				peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TCTGGGGAAATATGGACAGAA	0.338																																																0													73	72	72					6																	143780242		2203	4300	6503	SO:0001583	missense	8504			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.94T>C	6.37:g.143780242T>C	ENSP00000356563:p.Tyr32His		Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262348	0.80358	.	.	ENSG00000034693	ENST00000367591	T	0.54866	0.55	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	M	0.71036	2.16	0.80722	D	1	D;D	0.59767	0.986;0.981	P;P	0.61658	0.892;0.745	T	0.65792	-0.6082	10	0.52906	T	0.07	-13.0484	16.0711	0.80936	0.0:0.0:0.0:1.0	.	32;32	B4DV31;P56589	.;PEX3_HUMAN	H	32	ENSP00000356563:Y32H	ENSP00000356563:Y32H	Y	+	1	0	PEX3	143821935	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.638000	0.83328	2.197000	0.70478	0.482000	0.46254	TAT		0.338	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			C	143780242	T	C	143780242	3	2	97	1	0	0	0	0	1	0	0	0	11749	1406	49	3	100	3	PEX3	6	143780242	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10	24380860	143780242	27334825	25	6335											
CARD11	84433	hgsc.bcm.edu;ucsc.edu	37	7	2951854	2951854	+	Silent	SNP	G	G	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr7:2951854G>A	ENST00000396946.4	-	23	3499	c.3096C>T	c.(3094-3096)aaC>aaT	p.N1032N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1032	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATTCGAACGCGTTGGGGTTCT	0.587			Mis		DLBCL																																		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													224	170	188					7																	2951854		2203	4300	6503	SO:0001819	synonymous_variant	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3096C>T	7.37:g.2951854G>A			A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	CCDS5336.2																																																																																				0.587	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		A	2951854	G	A	2951854	2	1	97	1	0	0	0	0	0	0	0	1	2647	1136	40	1		1	CARD11	7	2951854	Silent	SNP	G	TCGA-AK-3431-01A-02D-1361-10		2951854	156186809	26	6336											
SNX13	23161	hgsc.bcm.edu;ucsc.edu	37	7	17915357	17915357	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr7:17915357C>A	ENST00000409389.1	-	6	669	c.497G>T	c.(496-498)gGc>gTc	p.G166V	SNX13_ENST00000428135.3_Missense_Mutation_p.G166V			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	166	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TAAGTGTGTGCCAAAGTCATC	0.308																																																0													140	124	129					7																	17915357		1831	4085	5916	SO:0001583	missense	23161			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.497G>T	7.37:g.17915357C>A	ENSP00000386705:p.Gly166Val		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37		.	.	.	.	.	.	.	.	.	.	C	14.72	2.620050	0.46736	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.17213	2.29;2.55	5.5	5.5	0.81552	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.049431	0.85682	D	0.000000	T	0.10035	0.0246	N	0.11201	0.11	0.80722	D	1	B;B;B	0.16802	0.008;0.004;0.019	B;B;B	0.21151	0.033;0.012;0.019	T	0.26430	-1.0103	10	0.15952	T	0.53	-6.7756	14.3423	0.66636	0.0:0.7284:0.2716:0.0	.	166;166;166	Q9Y5W8;B8ZZT9;Q9Y5W8-2	SNX13_HUMAN;.;.	V	166;166;214	ENSP00000386705:G166V;ENSP00000398789:G166V	ENSP00000242044:G214V	G	-	2	0	SNX13	17881882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.486000	0.60286	2.565000	0.86533	0.655000	0.94253	GGC		0.308	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		A	17915357	C	A	17915357	3	1	97	1	0	0	0	0	1	0	0	0	14890	739	26	4	2460	4	SNX13	7	17915357	Missense_Mutation	SNP	C	TCGA-AK-3431-01A-02D-1361-10	14963503	17915357	141223306	27	6337											
DMTF1	9988	hgsc.bcm.edu;ucsc.edu	37	7	86802901	86802901	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr7:86802901A>T	ENST00000394703.5	+	8	941	c.378A>T	c.(376-378)gaA>gaT	p.E126D	DMTF1_ENST00000394702.3_Missense_Mutation_p.E126D|DMTF1_ENST00000432937.2_Missense_Mutation_p.E38D|DMTF1_ENST00000331242.7_Missense_Mutation_p.E126D|DMTF1_ENST00000413276.2_Missense_Mutation_p.E126D|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.E85D	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	126	Interaction with CCND2. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GTAACGAGGAAGTTTCAGCAG	0.323																																																0													100	101	101					7																	86802901		2203	4300	6503	SO:0001583	missense	9988			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.378A>T	7.37:g.86802901A>T	ENSP00000378193:p.Glu126Asp		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.074300	0.55646	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000425406;ENST00000411766;ENST00000430405;ENST00000432937;ENST00000394703;ENST00000412139;ENST00000425705	T;T;T;T	0.52983	0.64;0.78;0.64;0.64	5.91	0.882	0.19172	.	0.045006	0.85682	D	0.000000	T	0.31295	0.0792	L	0.29908	0.895	0.80722	D	1	B	0.23377	0.084	B	0.22880	0.042	T	0.07214	-1.0784	10	0.32370	T	0.25	-17.2774	9.2145	0.37339	0.6291:0.0:0.3709:0.0	.	126	Q9Y222	DMTF1_HUMAN	D	126;126;126;126;85;85;126;38;126;126;126	ENSP00000332171:E126D;ENSP00000402627:E126D;ENSP00000412532:E38D;ENSP00000378193:E126D	ENSP00000332171:E126D	E	+	3	2	DMTF1	86640837	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.992000	0.29667	0.444000	0.26612	0.377000	0.23210	GAA		0.323	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		T	86802901	A	T	86802901	3	4	97	1	0	0	0	0	1	0	0	0	4594	69	3	5	392	5	DMTF1	7	86802901	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	68887544	86802901	72335762	28	6338											
GTPBP10	85865	hgsc.bcm.edu;ucsc.edu	37	7	89983809	89983809	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr7:89983809G>C	ENST00000222511.6	+	3	331	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	89					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AAAAGACTGTGAAATCCCTGT	0.338																																																0													81	86	84					7																	89983809		2203	4299	6502	SO:0001583	missense	85865				CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.265G>C	7.37:g.89983809G>C	ENSP00000222511:p.Glu89Gln		B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.161803	0.38217	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000222511;ENST00000417207	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.75	5.75	0.90469	GTP1/OBG subdomain (3);	0.052768	0.85682	D	0.000000	T	0.27278	0.0669	M	0.73319	2.225	0.46823	D	0.999216	B;B;B	0.23990	0.045;0.095;0.034	B;B;B	0.26614	0.071;0.071;0.063	T	0.02365	-1.1170	9	.	.	.	-6.342	15.0936	0.72217	0.0:0.1413:0.8587:0.0	.	89;80;106	A4D1E9;C9J8R7;C9JNI1	GTPBA_HUMAN;.;.	Q	80;106;89;89	ENSP00000405697:E80Q;ENSP00000389510:E106Q;ENSP00000222511:E89Q;ENSP00000416596:E89Q	.	E	+	1	0	GTPBP10	89821745	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.990000	0.70595	2.701000	0.92244	0.650000	0.86243	GAA		0.338	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		C	89983809	G	C	89983809	3	2	97	1	0	0	0	0	1	0	0	0	6881	1291	45	4	275	4	GTPBP10	7	89983809	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10	3180908	89983809	69154854	29	6339											
SLC12A9	56996	hgsc.bcm.edu	37	7	100459532	100459532	+	Splice_Site	SNP	C	C	T	rs201332376	byFrequency	TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr7:100459532C>T	ENST00000354161.3	+	12	1835	c.1710C>T	c.(1708-1710)ctC>ctT	p.L570L	SLC12A9_ENST00000428758.1_Splice_Site_p.L570L|SLC12A9_ENST00000540482.1_Splice_Site_p.L570L|SLC12A9_ENST00000275729.3_Splice_Site_p.L481L|SLC12A9_ENST00000415287.1_Splice_Site_p.L481L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	570					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGGAGACCTCGGTGAGCTGC	0.602													C|||	4	0.000798722	0.0	0.0	5008	,	,		14042	0.003		0.0	False		,,,				2504	0.001															0								C		0,4406		0,0,2203	22	25	24		1710	-10.9	0.8	7		24	4,8596	3.0+/-9.4	0,4,4296	yes	coding-synonymous-near-splice	SLC12A9	NM_020246.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		570/915	100459532	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1711+1C>T	7.37:g.100459532C>T			B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	CCDS5707.1																																																																																				0.602	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246	Silent	T	100459532	C	T	100459532	5	4	97	1	0	0	0	0	0	0	1	0	14396	898	31	1	1752	1	SLC12A9	7	100459532	Splice_Site	SNP	C	TCGA-AK-3431-01A-02D-1361-10	10475723	100459532	58679131	30	6340											
KIAA1549	57670	hgsc.bcm.edu;ucsc.edu	37	7	138603070	138603070	+	Silent	SNP	G	G	T	rs372588818		TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr7:138603070G>T	ENST00000422774.1	-	2	1350	c.1302C>A	c.(1300-1302)gcC>gcA	p.A434A	KIAA1549_ENST00000242365.4_Silent_p.A384A|KIAA1549_ENST00000440172.1_Silent_p.A434A			Q9HCM3	K1549_HUMAN	KIAA1549	434						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGAGGCTCGTGGCCAGAACTT	0.557			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													92	91	91					7																	138603070		2087	4217	6304	SO:0001819	synonymous_variant	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1302C>A	7.37:g.138603070G>T			B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	CCDS56513.1																																																																																				0.557	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			T	138603070	G	T	138603070	2	4	97	1	0	0	0	0	0	0	0	1	8246	1335	47	4		4	KIAA1549	7	138603070	Silent	SNP	G	TCGA-AK-3431-01A-02D-1361-10	38143538	138603070	20535593	31	6341											
CNTNAP2	26047	hgsc.bcm.edu;ucsc.edu	37	7	147869410	147869410	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr7:147869410G>T	ENST00000361727.3	+	18	3366	c.2850G>T	c.(2848-2850)gaG>gaT	p.E950D	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.E9D	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	950	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTGACCTGGAGGAAAGAGCAA	0.547										HNSCC(39;0.1)																																						0													99	94	95					7																	147869410		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2850G>T	7.37:g.147869410G>T	ENSP00000354778:p.Glu950Asp		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839085	0.71373	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.76316	-1.01;-1.01	5.28	-1.61	0.08399	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.86028	2.79	0.37403	D	0.912907	P	0.43352	0.804	P	0.45071	0.468	T	0.77814	-0.2448	10	0.31617	T	0.26	.	11.1397	0.48396	0.6956:0.0:0.3044:0.0	.	950	Q9UHC6	CNTP2_HUMAN	D	950;9	ENSP00000354778:E950D;ENSP00000440732:E9D	ENSP00000354778:E950D	E	+	3	2	CNTNAP2	147500343	0.785000	0.28726	0.996000	0.52242	0.997000	0.91878	-0.032000	0.12266	-0.163000	0.10946	0.563000	0.77884	GAG		0.547	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	147869410	G	T	147869410	3	4	97	1	0	0	0	0	1	0	0	0	3649	991	35	4	2920	4	CNTNAP2	7	147869410	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10	9266340	147869410	11269253	32	6342											
MYOM2	9172	hgsc.bcm.edu	37	8	2064039	2064039	+	Missense_Mutation	SNP	T	T	C	rs199787589		TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr8:2064039T>C	ENST00000262113.4	+	27	3496	c.3355T>C	c.(3355-3357)Ttt>Ctt	p.F1119L	MYOM2_ENST00000523438.1_Missense_Mutation_p.F544L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1119					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGAGGCTGAGTTTCAAAGGAA	0.383																																																0													44	44	44					8																	2064039		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3355T>C	8.37:g.2064039T>C	ENSP00000262113:p.Phe1119Leu		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	48	0.02197802197802198	4	0.008130081300813009	0	0.0	9	0.015734265734265736	35	0.04617414248021108	T	13.35	2.211838	0.39102	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.50548	0.74;0.88	5.44	4.28	0.50868	.	0.213339	0.49916	N	0.000124	T	0.06325	0.0163	L	0.28400	0.85	0.36940	D	0.892342	B	0.09022	0.002	B	0.10450	0.005	T	0.08126	-1.0737	10	0.24483	T	0.36	.	9.1004	0.36664	0.0:0.1607:0.0:0.8393	.	1119	P54296	MYOM2_HUMAN	L	1119;544	ENSP00000262113:F1119L;ENSP00000428396:F544L	ENSP00000262113:F1119L	F	+	1	0	MYOM2	2051446	1.000000	0.71417	0.984000	0.44739	0.484000	0.33280	3.674000	0.54598	0.898000	0.36418	0.528000	0.53228	TTT		0.383	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		C	2064039	T	C	2064039	3	2	97	1	0	0	0	0	1	0	0	0	10094	1725	60	3	3457	3	MYOM2	8	2064039	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10		2064039	144299983	33	6343											
ADHFE1	137872	hgsc.bcm.edu	37	8	67380563	67380563	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr8:67380563T>A	ENST00000396623.3	+	14	1411	c.1380T>A	c.(1378-1380)ttT>ttA	p.F460L	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.F412L|C8orf46_ENST00000482608.2_Intron	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	460					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CTGCTCTGTTTGAAGCTTCAA	0.438																																																0													92	86	88					8																	67380563		2203	4300	6503	SO:0001583	missense	137872			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1380T>A	8.37:g.67380563T>A	ENSP00000379865:p.Phe460Leu		B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	T	15.66	2.899852	0.52227	.	.	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.36699	1.24;1.24	5.47	1.63	0.23807	.	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	L	0.39326	1.205	0.80722	D	1	B	0.34226	0.443	B	0.40285	0.325	T	0.04752	-1.0929	10	0.41790	T	0.15	-6.6939	9.6229	0.39732	0.0:0.204:0.0:0.796	.	460	Q8IWW8	HOT_HUMAN	L	460;412	ENSP00000379865:F460L;ENSP00000407115:F412L	ENSP00000379865:F460L	F	+	3	2	ADHFE1	67543117	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.297000	0.33400	0.037000	0.15575	0.482000	0.46254	TTT		0.438	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		A	67380563	T	A	67380563	3	1	97	1	0	0	0	0	1	0	0	0	314	1809	63	5	1434	5	ADHFE1	8	67380563	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10	65316524	67380563	78983459	34	6344											
CNBD1	168975	hgsc.bcm.edu;ucsc.edu	37	8	87878755	87878755	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr8:87878755T>C	ENST00000518476.1	+	1	83	c.32T>C	c.(31-33)tTg>tCg	p.L11S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	11										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GCAGCTATTTTGTCTCACATG	0.448																																																0													105	97	100					8																	87878755		1957	4154	6111	SO:0001583	missense	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.32T>C	8.37:g.87878755T>C	ENSP00000430073:p.Leu11Ser			Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.314493	0.23908	.	.	ENSG00000176571	ENST00000518476	T	0.24723	1.84	4.78	4.78	0.61160	.	0.726885	0.10637	N	0.651457	T	0.35128	0.0921	L	0.44542	1.39	0.09310	N	1	P	0.51240	0.943	P	0.52909	0.713	T	0.16070	-1.0415	10	0.87932	D	0	.	10.8681	0.46866	0.0:0.0:0.0:1.0	.	11	Q8NA66	CNBD1_HUMAN	S	11	ENSP00000430073:L11S	ENSP00000430073:L11S	L	+	2	0	CNBD1	87947871	0.026000	0.19158	0.006000	0.13384	0.407000	0.30961	3.235000	0.51328	2.125000	0.65367	0.460000	0.39030	TTG		0.448	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		C	87878755	T	C	87878755	3	2	97	1	0	0	0	0	1	0	0	0	3593	1821	63	3	34	3	CNBD1	8	87878755	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10	20498192	87878755	58485267	35	6345											
DCAF13	25879	hgsc.bcm.edu	37	8	104444937	104444937	+	Silent	SNP	T	T	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr8:104444937T>C	ENST00000297579.5	+	7	1486	c.1209T>C	c.(1207-1209)gcT>gcC	p.A403A	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	251					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTATGGAAGCTTTCATTTTTA	0.323																																																0													84	91	89					8																	104444937		2203	4297	6500	SO:0001819	synonymous_variant	25879			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1209T>C	8.37:g.104444937T>C			Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Silent	SNP	ENST00000297579.5	37	CCDS34934.1																																																																																				0.323	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		C	104444937	T	C	104444937	2	2	97	1	0	0	0	0	0	0	0	1	4268	1596	56	3		3	DCAF13	8	104444937	Silent	SNP	T	TCGA-AK-3431-01A-02D-1361-10	16566182	104444937	41919085	36	6346											
SNAPC3	6619	hgsc.bcm.edu;ucsc.edu	37	9	15453105	15453105	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr9:15453105A>T	ENST00000380821.3	+	7	1058	c.882A>T	c.(880-882)gaA>gaT	p.E294D	SNAPC3_ENST00000380799.1_Missense_Mutation_p.E91D	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	294					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		CTAGAATGGAAGATTTCACCT	0.393																																																0													197	190	192					9																	15453105		2203	4300	6503	SO:0001583	missense	6619			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"small nuclear RNA activating complex, polypeptide 3, 50kD"			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.882A>T	9.37:g.15453105A>T	ENSP00000370200:p.Glu294Asp		D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.805510	0.70682	.	.	ENSG00000164975	ENST00000380821;ENST00000380799	T;T	0.45668	0.89;0.89	5.06	2.69	0.31865	.	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	L	0.60904	1.88	0.58432	D	0.999999	P	0.48834	0.916	P	0.49683	0.619	T	0.30268	-0.9984	10	0.44086	T	0.13	-12.6915	8.2654	0.31810	0.7619:0.0:0.2381:0.0	.	294	Q92966	SNPC3_HUMAN	D	294;91	ENSP00000370200:E294D;ENSP00000370177:E91D	ENSP00000370177:E91D	E	+	3	2	SNAPC3	15443105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.367000	0.52350	0.751000	0.32900	0.459000	0.35465	GAA		0.393	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697		T	15453105	A	T	15453105	3	4	97	1	0	0	0	0	1	0	0	0	14842	69	3	5	908	5	SNAPC3	9	15453105	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10		15453105	125760326	37	6347											
IFNA8	3445	hgsc.bcm.edu	37	9	21409246	21409246	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr9:21409246G>C	ENST00000380205.1	+	1	101	c.71G>C	c.(70-72)tGt>tCt	p.C24S		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	24					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		TCTCTGGGCTGTGATCTGCCT	0.507																																																0													140	134	136					9																	21409246		2203	4300	6503	SO:0001583	missense	3445				CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"Interferons"	5429	protein-coding gene	gene with protein product	"interferon alpha-B''", "interferon alpha type 201"	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.71G>C	9.37:g.21409246G>C	ENSP00000369553:p.Cys24Ser		P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163981	0.57476	.	.	ENSG00000120242	ENST00000380205	T	0.05139	3.49	3.43	3.43	0.39272	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	M	0.92880	3.355	0.38592	D	0.950458	D	0.89917	1.0	D	0.80764	0.994	T	0.46062	-0.9218	10	0.87932	D	0	.	12.2327	0.54497	0.0:0.0:1.0:0.0	.	24	P32881	IFNA8_HUMAN	S	24	ENSP00000369553:C24S	ENSP00000369553:C24S	C	+	2	0	IFNA8	21399246	0.895000	0.30542	0.887000	0.34795	0.837000	0.47467	1.508000	0.35769	1.914000	0.55421	0.561000	0.74099	TGT		0.507	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		C	21409246	G	C	21409246	3	2	97	1	0	0	0	0	1	0	0	0	7545	1377	48	4	73	4	IFNA8	9	21409246	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10	5956141	21409246	119804185	38	6348											
C9orf153	389766	hgsc.bcm.edu;ucsc.edu	37	9	88844486	88844486	+	Silent	SNP	C	C	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr9:88844486C>T	ENST00000376001.3	-	2	113	c.33G>A	c.(31-33)gaG>gaA	p.E11E	C9orf153_ENST00000469914.1_5'UTR|C9orf153_ENST00000339137.3_Silent_p.E11E	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	11										breast(1)|lung(1)	2						CTCTATTGTCCTCAGCTGGAC	0.378																																																0													165	125	139					9																	88844486		2203	4300	6503	SO:0001819	synonymous_variant	389766				CCDS35055.1, CCDS35055.2	9q22.1	2012-04-03			ENSG00000187753	ENSG00000187753			31456	protein-coding gene	gene with protein product							Standard	NM_001276366		Approved	bA507D14.1	uc031teh.1	Q5TBE3	OTTHUMG00000020134	ENST00000376001.3:c.33G>A	9.37:g.88844486C>T			Q5TBE4	Silent	SNP	ENST00000376001.3	37	CCDS35055.1																																																																																				0.378	C9orf153-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052913.1	NM_001010907		T	88844486	C	T	88844486	2	4	97	1	0	0	0	0	0	0	0	1	2466	680	24	2		2	C9orf153	9	88844486	Silent	SNP	C	TCGA-AK-3431-01A-02D-1361-10	67435240	88844486	52368945	39	6349											
CEP110	11064	hgsc.bcm.edu;ucsc.edu	37	9	123930585	123930585	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr9:123930585C>G	ENST00000373855.1	+	38	6316	c.6056C>G	c.(6055-6057)aCa>aGa	p.T2019R	CNTRL_ENST00000238341.5_Missense_Mutation_p.T2019R|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.T1467R			Q7Z7A1	CNTRL_HUMAN	centriolin	2019	Required for centrosome localization.|Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTGGAGAAGACACTCTCCCAA	0.488																																																0													94	99	97					9																	123930585		2203	4300	6503	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6056C>G	9.37:g.123930585C>G	ENSP00000362962:p.Thr2019Arg		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	8.042	0.764131	0.15914	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.29397	1.88;1.88;1.57	6.16	2.07	0.26955	.	.	.	.	.	T	0.23289	0.0563	L	0.53249	1.67	0.09310	N	0.999998	P	0.46395	0.877	B	0.39299	0.296	T	0.11108	-1.0601	9	0.15952	T	0.53	.	6.3298	0.21264	0.2606:0.5973:0.0:0.1421	.	2019	Q7Z7A1	CNTRL_HUMAN	R	2019;2019;2019;775;176;1467;701	ENSP00000362962:T2019R;ENSP00000238341:T2019R;ENSP00000362956:T1467R	ENSP00000238341:T2019R	T	+	2	0	CNTRL	122970406	0.001000	0.12720	0.250000	0.24296	0.078000	0.17371	-0.077000	0.11394	0.462000	0.27095	-0.157000	0.13467	ACA		0.488	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		G	123930585	C	G	123930585	3	3	97	1	0	0	0	0	1	0	0	0	3247	478	17	4	6198	4	CEP110	9	123930585	Missense_Mutation	SNP	C	TCGA-AK-3431-01A-02D-1361-10	35086099	123930585	17282846	40	6350											
CERCAM	51148	hgsc.bcm.edu	37	9	131185208	131185208	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr9:131185208G>A	ENST00000372838.4	+	2	657	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	CERCAM_ENST00000372842.1_Missense_Mutation_p.V9M	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	87					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GCTGGCGGCTGTGGGCGATGA	0.622																																																0													68	57	61					9																	131185208		2203	4300	6503	SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.259G>A	9.37:g.131185208G>A	ENSP00000361929:p.Val87Met		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528311	0.44969	.	.	ENSG00000167123	ENST00000420034;ENST00000372842;ENST00000447915;ENST00000420512;ENST00000372838;ENST00000411852	D;D;D	0.85013	-1.92;-1.92;-1.93	4.85	3.0	0.34707	.	0.178326	0.46758	D	0.000268	T	0.78534	0.4298	L	0.38175	1.15	0.38316	D	0.943383	P	0.36837	0.571	B	0.42163	0.378	T	0.77713	-0.2485	10	0.49607	T	0.09	.	5.942	0.19198	0.2888:0.0:0.7112:0.0	.	87	Q5T4B2	GT253_HUMAN	M	9;9;9;9;87;9	ENSP00000361933:V9M;ENSP00000416676:V9M;ENSP00000361929:V87M	ENSP00000361929:V87M	V	+	1	0	CERCAM	130225029	0.418000	0.25440	0.986000	0.45419	0.745000	0.42441	0.720000	0.25896	1.395000	0.46643	0.561000	0.74099	GTG		0.622	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		A	131185208	G	A	131185208	3	1	97	1	0	0	0	0	1	0	0	0	3268	1377	48	2	265	2	CERCAM	9	131185208	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10	7254623	131185208	10028223	41	6351											
ARHGAP12	94134	hgsc.bcm.edu;ucsc.edu	37	10	32098041	32098041	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr10:32098041A>C	ENST00000344936.2	-	18	2378	c.2144T>G	c.(2143-2145)tTg>tGg	p.L715W	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.L710W|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.L663W|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.L685W|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.L663W	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	715	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ACTGTCATTCAAGTCCAATTT	0.308																																																0													67	66	66					10																	32098041		2203	4300	6503	SO:0001583	missense	94134			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.2144T>G	10.37:g.32098041A>C	ENSP00000345808:p.Leu715Trp		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645150	0.87859	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	5.96	5.96	0.96718	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	H	0.98155	4.16	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.79063	-0.1957	10	0.87932	D	0	.	16.4311	0.83844	1.0:0.0:0.0:0.0	.	668;685;710;715;663;14	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3;Q9NV28	.;.;.;RHG12_HUMAN;.;.	W	663;685;715;710;663	ENSP00000310984:L663W;ENSP00000364399:L685W;ENSP00000345808:L715W;ENSP00000379448:L710W;ENSP00000364394:L663W	ENSP00000310984:L663W	L	-	2	0	ARHGAP12	32138047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.169000	0.94788	2.277000	0.76020	0.528000	0.53228	TTG		0.308	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			C	32098041	A	C	32098041	3	2	97	1	0	0	0	0	1	0	0	0	865	131	5	5	408	5	ARHGAP12	10	32098041	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10		32098041	103436706	42	6352											
UNC5B	219699	hgsc.bcm.edu	37	10	73057821	73057821	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr10:73057821G>A	ENST00000335350.6	+	16	3062	c.2646G>A	c.(2644-2646)atG>atA	p.M882I	UNC5B_ENST00000373192.4_Missense_Mutation_p.M871I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	882	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACTGGCGGATGTTAGCACAGA	0.582																																																0													112	82	92					10																	73057821		2203	4300	6503	SO:0001583	missense	219699			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2646G>A	10.37:g.73057821G>A	ENSP00000334329:p.Met882Ile		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793604	0.31685	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	D;D	0.84800	-1.9;-1.9	5.73	-0.05	0.13832	Death (2);DEATH-like (2);	0.078767	0.52532	D	0.000072	T	0.74199	0.3685	L	0.50333	1.59	0.26331	N	0.977522	B;B	0.17667	0.018;0.023	B;B	0.17979	0.011;0.02	T	0.59910	-0.7365	10	0.40728	T	0.16	-6.6994	0.6753	0.00865	0.2677:0.2612:0.2846:0.1866	.	871;882	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	I	882;871	ENSP00000334329:M882I;ENSP00000362288:M871I	ENSP00000334329:M882I	M	+	3	0	UNC5B	72727827	0.057000	0.20700	0.256000	0.24389	0.793000	0.44817	-0.411000	0.07142	-0.277000	0.09193	0.655000	0.94253	ATG		0.582	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		A	73057821	G	A	73057821	3	1	97	1	0	0	0	0	1	0	0	0	16997	1377	48	2	2708	2	UNC5B	10	73057821	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10	40959780	73057821	62476926	43	6353											
POLR3A	11128	hgsc.bcm.edu	37	10	79781733	79781733	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr10:79781733A>C	ENST00000372371.3	-	7	1070	c.933T>G	c.(931-933)gaT>gaG	p.D311E	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	311					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTGCAGGAAATCCCAGTCCT	0.522																																																0													85	75	78					10																	79781733		2203	4300	6503	SO:0001583	missense	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.933T>G	10.37:g.79781733A>C	ENSP00000361446:p.Asp311Glu		Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.536102	0.45176	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.20069	2.1	5.45	-7.15	0.01521	RNA polymerase, N-terminal (1);RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.31804	0.96	0.48511	D	0.999663	B	0.25772	0.134	B	0.31337	0.128	T	0.02275	-1.1184	9	.	.	.	-27.7894	22.9448	0.99978	0.1851:0.0:0.8149:0.0	.	311	O14802	RPC1_HUMAN	E	311	ENSP00000361446:D311E	.	D	-	3	2	POLR3A	79451739	0.855000	0.29742	0.788000	0.31933	0.977000	0.68977	-0.073000	0.11468	-1.441000	0.01958	-0.280000	0.10049	GAT		0.522	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		C	79781733	A	C	79781733	3	2	97	1	0	0	0	0	1	0	0	0	12230	98	4	5	3339	5	POLR3A	10	79781733	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	6723912	79781733	55753014	44	6354											
RAB11FIP2	22841	hgsc.bcm.edu;ucsc.edu	37	10	119798634	119798634	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr10:119798634A>C	ENST00000355624.3	-	3	1553	c.1114T>G	c.(1114-1116)Tct>Gct	p.S372A	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.S372A	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	372					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		AGTTTATCAGATCTTCTGCTA	0.338																																																0													192	209	203					10																	119798634		2203	4300	6503	SO:0001583	missense	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1114T>G	10.37:g.119798634A>C	ENSP00000347839:p.Ser372Ala		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383948	0.25031	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.64803	-0.12;-0.09	5.76	0.426	0.16479	.	0.462197	0.26792	N	0.022461	T	0.45438	0.1342	L	0.44542	1.39	0.27185	N	0.960566	B;B	0.17852	0.024;0.002	B;B	0.18263	0.021;0.006	T	0.27157	-1.0082	10	0.14656	T	0.56	-2.8065	6.8427	0.23971	0.5086:0.3628:0.1286:0.0	.	372;372	Q3I768;Q7L804	.;RFIP2_HUMAN	A	372	ENSP00000347839:S372A;ENSP00000358200:S372A	ENSP00000347839:S372A	S	-	1	0	RAB11FIP2	119788624	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	2.093000	0.41710	-0.096000	0.12329	0.528000	0.53228	TCT		0.338	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		C	119798634	A	C	119798634	3	2	97	1	0	0	0	0	1	0	0	0	12900	333	12	5	436	5	RAB11FIP2	10	119798634	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	40016901	119798634	15736113	45	6355											
USH1C	10083	hgsc.bcm.edu;ucsc.edu	37	11	17523523	17523523	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr11:17523523A>G	ENST00000318024.4	-	16	1397	c.1289T>C	c.(1288-1290)tTc>tCc	p.F430S	USH1C_ENST00000527720.1_Missense_Mutation_p.F399S|USH1C_ENST00000527020.1_Missense_Mutation_p.F411S|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000005226.7_Missense_Mutation_p.F730S	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	430					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.F730S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATATTTCCGGAAATCCTGGAA	0.537																																																1	Substitution - Missense(1)	large_intestine(1)											91	84	86					11																	17523523		2200	4293	6493	SO:0001583	missense	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1289T>C	11.37:g.17523523A>G	ENSP00000317018:p.Phe430Ser		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213540	0.79352	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.36157	1.27;1.27;1.62;1.64	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.32530	0.975	0.39073	D	0.960753	P;P;D	0.71674	0.763;0.651;0.998	B;B;D	0.75484	0.229;0.115;0.986	T	0.52815	-0.8525	10	0.62326	D	0.03	.	12.9057	0.58152	1.0:0.0:0.0:0.0	.	411;430;730	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	S	430;399;411;730	ENSP00000317018:F430S;ENSP00000432944:F399S;ENSP00000436934:F411S;ENSP00000005226:F730S	ENSP00000005226:F730S	F	-	2	0	USH1C	17480099	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.625000	0.74248	2.042000	0.60477	0.528000	0.53228	TTC		0.537	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		G	17523523	A	G	17523523	3	3	97	1	0	0	0	0	1	0	0	0	17039	246	9	3	538	3	USH1C	11	17523523	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10		17523523	117482993	46	6356											
DDB1	1642	hgsc.bcm.edu	37	11	61081149	61081149	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr11:61081149A>C	ENST00000301764.7	-	16	2288	c.1891T>G	c.(1891-1893)Ttg>Gtg	p.L631V	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	631	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGGTGCCCAAAGTCACCTTC	0.478								Nucleotide excision repair (NER)																																								0													78	71	73					11																	61081149		2203	4299	6502	SO:0001583	missense	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1891T>G	11.37:g.61081149A>C	ENSP00000301764:p.Leu631Val		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274822	0.80580	.	.	ENSG00000167986	ENST00000301764;ENST00000535147;ENST00000537877	T;T	0.29397	1.57;1.57	5.91	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.77820	2.39	0.80722	D	1	D	0.55385	0.971	P	0.62089	0.898	T	0.45920	-0.9228	10	0.56958	D	0.05	-14.0296	9.7822	0.40656	0.2463:0.0:0.7536:0.0	.	631	Q16531	DDB1_HUMAN	V	631;98;195	ENSP00000301764:L631V;ENSP00000444650:L98V	ENSP00000301764:L631V	L	-	1	2	DDB1	60837725	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	4.171000	0.58236	0.285000	0.22329	-0.274000	0.10170	TTG		0.478	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		C	61081149	A	C	61081149	3	2	97	1	0	0	0	0	1	0	0	0	4325	11	1	5	1579	5	DDB1	11	61081149	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	43557626	61081149	73925367	47	6357											
FERMT3	83706	hgsc.bcm.edu	37	11	63979193	63979193	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr11:63979193T>G	ENST00000279227.5	+	6	855	c.760T>G	c.(760-762)Tac>Gac	p.Y254D	FERMT3_ENST00000345728.5_Missense_Mutation_p.Y254D	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	254	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CTTCAAGTACTACAGCTTCTT	0.627																																																0													109	99	103					11																	63979193		2201	4297	6498	SO:0001583	missense	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.760T>G	11.37:g.63979193T>G	ENSP00000279227:p.Tyr254Asp		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734098	0.69189	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227;ENST00000541252	D;T;T;T	0.82433	-1.61;-1.24;-1.24;0.43	3.6	2.43	0.29744	FERM central domain (1);Band 4.1 domain (1);	0.324779	0.29028	N	0.013368	D	0.86552	0.5960	M	0.80616	2.505	0.51233	D	0.999912	D;D	0.64830	0.994;0.966	P;P	0.53649	0.731;0.564	D	0.86073	0.1539	10	0.87932	D	0	-9.5776	9.322	0.37971	0.0:0.0:0.1815:0.8185	.	254;254	Q86UX7-2;Q86UX7	.;URP2_HUMAN	D	254;254;254;74	ENSP00000445778:Y254D;ENSP00000339950:Y254D;ENSP00000279227:Y254D;ENSP00000438885:Y74D	ENSP00000279227:Y254D	Y	+	1	0	FERMT3	63735769	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.154000	0.50693	0.557000	0.29117	0.379000	0.24179	TAC		0.627	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		G	63979193	T	G	63979193	3	3	97	1	0	0	0	0	1	0	0	0	5821	1522	53	5	778	5	FERMT3	11	63979193	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10	2898044	63979193	71027323	48	6358											
SYTL2	54843	hgsc.bcm.edu;ucsc.edu	37	11	85435949	85435949	+	Intron	SNP	C	C	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr11:85435949C>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.R517S|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.R517S|SYTL2_ENST00000359152.5_Missense_Mutation_p.R1041S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CAATTGTTTCCCTCACAATTT	0.433																																																0													114	111	112					11																	85435949		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2989G>T	11.37:g.85435949C>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253120	0.39797	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.33216	1.44;1.42;1.43	5.58	3.6	0.41247	.	0.311758	0.28219	N	0.016146	T	0.23410	0.0566	L	0.32530	0.975	0.09310	N	1	P;P;P	0.42296	0.775;0.617;0.617	B;B;B	0.43916	0.436;0.306;0.306	T	0.06092	-1.0846	9	.	.	.	-2.1265	6.0279	0.19665	0.0:0.7463:0.0:0.2537	.	517;517;517	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	S	1041;517;517	ENSP00000352065:R1041S;ENSP00000346576:R517S;ENSP00000432694:R517S	.	R	-	3	2	SYTL2	85113597	0.006000	0.16342	0.734000	0.30879	0.884000	0.51177	0.448000	0.21726	1.605000	0.50152	0.655000	0.94253	AGG		0.433	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		A	85435949	C	A	85435949	1	1	97	0	1	0	0	0	0	0	0	0	15488	622	22	4		4	SYTL2	11	85435949	Intron	SNP	C	TCGA-AK-3431-01A-02D-1361-10	21456756	85435949	49570567	49	6359											
DYNC2H1	79659	hgsc.bcm.edu;ucsc.edu	37	11	102991435	102991435	+	Silent	SNP	G	G	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr11:102991435G>C	ENST00000375735.2	+	8	1296	c.1152G>C	c.(1150-1152)gcG>gcC	p.A384A	DYNC2H1_ENST00000334267.7_Silent_p.A384A|DYNC2H1_ENST00000398093.3_Silent_p.A384A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	384	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A384A(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGAAAGCTGCGGTGTCTCAAT	0.323																																																1	Substitution - coding silent(1)	kidney(1)											45	44	45					11																	102991435		1816	4065	5881	SO:0001819	synonymous_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1152G>C	11.37:g.102991435G>C			O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																				0.323	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		C	102991435	G	C	102991435	2	2	97	1	0	0	0	0	0	0	0	1	4848	1103	39	4		4	DYNC2H1	11	102991435	Silent	SNP	G	TCGA-AK-3431-01A-02D-1361-10	17555486	102991435	32015081	50	6360											
BCAT1	586	hgsc.bcm.edu;ucsc.edu	37	12	24985748	24985748	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr12:24985748G>T	ENST00000261192.7	-	9	1479	c.953C>A	c.(952-954)aCa>aAa	p.T318K	BCAT1_ENST00000539282.1_Missense_Mutation_p.T330K|BCAT1_ENST00000342945.5_Missense_Mutation_p.T257K|BCAT1_ENST00000544418.1_5'Flank|BCAT1_ENST00000539780.1_Missense_Mutation_p.T281K|BCAT1_ENST00000538118.1_Missense_Mutation_p.T317K|RP11-625L16.3_ENST00000545410.1_RNA	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	318					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	CTCCAGGGCTGTTGTCAAGTC	0.428																																																0													111	109	110					12																	24985748		1922	4140	6062	SO:0001583	missense	586				CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"branched chain aminotransferase 1, cytosolic"	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.953C>A	12.37:g.24985748G>T	ENSP00000261192:p.Thr318Lys		B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.118587	0.00349	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.0	2.69	0.31865	.	0.667699	0.15774	N	0.245276	T	0.05914	0.0154	N	0.01751	-0.74	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.0;0.001;0.001;0.0	T	0.38045	-0.9679	10	0.11794	T	0.64	-19.4593	3.6917	0.08348	0.146:0.1443:0.5626:0.1471	.	281;330;257;318;317	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	K	318;317;257;330;281	ENSP00000261192:T318K;ENSP00000440817:T317K;ENSP00000339805:T257K;ENSP00000443459:T330K;ENSP00000440827:T281K	ENSP00000261192:T318K	T	-	2	0	BCAT1	24877015	0.000000	0.05858	0.003000	0.11579	0.128000	0.20619	0.573000	0.23699	1.198000	0.43158	0.655000	0.94253	ACA		0.428	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		T	24985748	G	T	24985748	3	4	97	1	0	0	0	0	1	0	0	0	1354	1377	48	4	219	4	BCAT1	12	24985748	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10		24985748	108866147	51	6361											
C12orf50	160419	hgsc.bcm.edu	37	12	88388466	88388466	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr12:88388466A>G	ENST00000298699.2	-	7	716	c.536T>C	c.(535-537)aTa>aCa	p.I179T	C12orf50_ENST00000550553.1_Missense_Mutation_p.I179T	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	179										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGATGTTTTTATTTCACCTTG	0.348																																																0													170	154	159					12																	88388466		2202	4299	6501	SO:0001583	missense	160419			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.536T>C	12.37:g.88388466A>G	ENSP00000298699:p.Ile179Thr		Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	A	4.681	0.126545	0.08931	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.33438	1.41;1.41	5.01	1.3	0.21679	.	0.556483	0.18159	N	0.149830	T	0.23133	0.0559	L	0.55103	1.725	0.21325	N	0.999726	B;B	0.10296	0.002;0.003	B;B	0.12156	0.002;0.007	T	0.21586	-1.0241	10	0.25751	T	0.34	.	4.6344	0.12518	0.6651:0.1654:0.1695:0.0	.	233;179	G3V208;Q8NA57	.;CL050_HUMAN	T	179;179;233	ENSP00000298699:I179T;ENSP00000448344:I179T	ENSP00000298699:I179T	I	-	2	0	C12orf50	86912597	1.000000	0.71417	0.842000	0.33263	0.361000	0.29550	2.467000	0.45093	0.042000	0.15717	-0.321000	0.08615	ATA		0.348	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		G	88388466	A	G	88388466	3	3	97	1	0	0	0	0	1	0	0	0	1697	449	16	3	736	3	C12orf50	12	88388466	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	63402718	88388466	45463429	52	6362											
FREM2	341640	hgsc.bcm.edu;ucsc.edu	37	13	39265788	39265788	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr13:39265788A>C	ENST00000280481.7	+	1	4523	c.4307A>C	c.(4306-4308)aAa>aCa	p.K1436T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1436					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAGGTGGCAAAGTCACTCTT	0.453																																																0													155	128	137					13																	39265788		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4307A>C	13.37:g.39265788A>C	ENSP00000280481:p.Lys1436Thr		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	5.813	0.334327	0.11013	.	.	ENSG00000150893	ENST00000280481	T	0.59083	0.29	5.81	3.45	0.39498	.	0.135816	0.64402	D	0.000004	T	0.40595	0.1123	N	0.20445	0.575	0.30413	N	0.778862	P	0.34892	0.474	B	0.37601	0.254	T	0.41324	-0.9515	10	0.38643	T	0.18	.	7.9971	0.30275	0.7363:0.0:0.2637:0.0	.	1436	Q5SZK8	FREM2_HUMAN	T	1436	ENSP00000280481:K1436T	ENSP00000280481:K1436T	K	+	2	0	FREM2	38163788	0.984000	0.35163	0.325000	0.25375	0.965000	0.64279	1.525000	0.35953	1.020000	0.39573	-0.290000	0.09829	AAA		0.453	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		C	39265788	A	C	39265788	3	2	97	1	0	0	0	0	1	0	0	0	6047	14	1	5	4309	5	FREM2	13	39265788	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10		39265788	75904090	53	6363											
MYO1E	4643	hgsc.bcm.edu	37	15	59528837	59528837	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr15:59528837T>C	ENST00000288235.4	-	5	766	c.367A>G	c.(367-369)Aaa>Gaa	p.K123E	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	123	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ATGATATATTTGGCAGCCACT	0.478																																																0													105	99	101					15																	59528837		2190	4290	6480	SO:0001583	missense	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.367A>G	15.37:g.59528837T>C	ENSP00000288235:p.Lys123Glu		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	T	35	5.494486	0.96339	.	.	ENSG00000157483	ENST00000288235	D	0.90900	-2.75	6.06	6.06	0.98353	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	H	0.99820	4.81	0.80722	D	1	P	0.51057	0.941	P	0.54924	0.764	D	0.98705	1.0702	10	0.72032	D	0.01	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	123	Q12965	MYO1E_HUMAN	E	123	ENSP00000288235:K123E	ENSP00000288235:K123E	K	-	1	0	MYO1E	57316129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.933000	0.87642	2.324000	0.78689	0.533000	0.62120	AAA		0.478	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		C	59528837	T	C	59528837	3	2	97	1	0	0	0	0	1	0	0	0	10074	1821	63	3	3055	3	MYO1E	15	59528837	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10		59528837	43002555	54	6364											
VPS13C	54832	hgsc.bcm.edu	37	15	62238606	62238606	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr15:62238606A>G	ENST00000261517.5	-	44	4953	c.4880T>C	c.(4879-4881)aTg>aCg	p.M1627T	VPS13C_ENST00000395896.4_Missense_Mutation_p.M1627T|VPS13C_ENST00000395898.3_Missense_Mutation_p.M1584T|VPS13C_ENST00000249837.3_Missense_Mutation_p.M1584T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGAGGCATCCATTCCTATAGG	0.333																																																0													52	49	50					15																	62238606		2203	4294	6497	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4880T>C	15.37:g.62238606A>G	ENSP00000261517:p.Met1627Thr			Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.027503	0.54683	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.40756	1.02;1.02;1.02	5.47	5.47	0.80525	.	0.148459	0.64402	D	0.000016	T	0.51856	0.1699	M	0.72479	2.2	0.54753	D	0.999985	P;P;P;P	0.37708	0.606;0.606;0.606;0.603	B;B;B;B	0.43728	0.429;0.429;0.429;0.247	T	0.57201	-0.7852	10	0.72032	D	0.01	.	15.5539	0.76177	1.0:0.0:0.0:0.0	.	1584;1627;1584;1627	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	T	1584;1627;1627;1627	ENSP00000249837:M1584T;ENSP00000261517:M1627T;ENSP00000379233:M1627T	ENSP00000249837:M1584T	M	-	2	0	VPS13C	60025898	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	6.169000	0.71913	2.077000	0.62373	0.528000	0.53228	ATG		0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		G	62238606	A	G	62238606	3	3	97	1	0	0	0	0	1	0	0	0	17196	217	8	3	6577	3	VPS13C	15	62238606	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	2709769	62238606	40292786	55	6365											
BAIAP3	8938	hgsc.bcm.edu	37	16	1394310	1394310	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr16:1394310G>T	ENST00000324385.5	+	17	1857	c.1699G>T	c.(1699-1701)Gcc>Tcc	p.A567S	BAIAP3_ENST00000421665.2_Missense_Mutation_p.A496S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.A509S|BAIAP3_ENST00000568887.1_Missense_Mutation_p.A504S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.A532S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.A549S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.A549S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	567					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CATTGCTGCGGCCCTGAAGGT	0.632																																																0													78	76	77					16																	1394310		2199	4300	6499	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1699G>T	16.37:g.1394310G>T	ENSP00000324510:p.Ala567Ser		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	CCDS10434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.83|13.83	2.354689|2.354689	0.41700|0.41700	.|.	.|.	ENSG00000007516|ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665|ENST00000440627	T;T;T;T;T|.	0.77620|.	-1.07;-1.11;-1.09;-1.11;-1.1|.	4.37|4.37	3.41|3.41	0.39046|0.39046	.|.	0.308317|.	0.35378|.	N|.	0.003241|.	T|T	0.63581|0.63581	0.2523|0.2523	M|M	0.71581|0.71581	2.175|2.175	0.38151|0.38151	D|D	0.938753|0.938753	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.991|.	D;D;D;P|.	0.65573|.	0.934;0.936;0.936;0.828|.	T|T	0.65660|0.65660	-0.6114|-0.6114	10|6	0.59425|0.51188	D|T	0.04|0.08	-16.729|-16.729	6.9563|6.9563	0.24574|0.24574	0.2151:0.0:0.7849:0.0|0.2151:0.0:0.7849:0.0	.|.	496;509;567;549|.	E7EUB9;B4DIK3;O94812;A2A2B2|.	.;.;BAIP3_HUMAN;.|.	S|V	532;549;567;549;496|172	ENSP00000407242:A532S;ENSP00000380625:A549S;ENSP00000324510:A567S;ENSP00000380626:A549S;ENSP00000409533:A496S|.	ENSP00000324510:A567S|ENSP00000394174:G172V	A|G	+|+	1|2	0|0	BAIAP3|BAIAP3	1334311|1334311	0.201000|0.201000	0.23410|0.23410	0.710000|0.710000	0.30468|0.30468	0.104000|0.104000	0.19210|0.19210	1.163000|1.163000	0.31798|0.31798	0.944000|0.944000	0.37579|0.37579	0.491000|0.491000	0.48974|0.48974	GCC|GGC		0.632	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			T	1394310	G	T	1394310	3	4	97	1	0	0	0	0	1	0	0	0	1304	1203	42	4	1765	4	BAIAP3	16	1394310	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10		1394310	88960443	56	6366											
SRRM2	23524	hgsc.bcm.edu	37	16	2816400	2816400	+	Silent	SNP	G	G	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr16:2816400G>A	ENST00000301740.8	+	11	6420	c.5871G>A	c.(5869-5871)agG>agA	p.R1957R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1957	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCGCAGAAGGTCCAGATCCA	0.567																																																0													68	70	70					16																	2816400		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5871G>A	16.37:g.2816400G>A			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.567	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2816400	G	A	2816400	2	1	97	1	0	0	0	0	0	0	0	1	15174	1252	44	2		2	SRRM2	16	2816400	Silent	SNP	G	TCGA-AK-3431-01A-02D-1361-10	1422090	2816400	87538353	57	6367											
NFATC3	4775	hgsc.bcm.edu;ucsc.edu	37	16	68200896	68200896	+	Silent	SNP	A	A	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr16:68200896A>T	ENST00000346183.3	+	5	1776	c.1752A>T	c.(1750-1752)atA>atT	p.I584I	NFATC3_ENST00000329524.4_Silent_p.I584I|NFATC3_ENST00000349223.5_Silent_p.I584I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Silent_p.I584I	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	584	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTCTGCAGATAGCCTCTATAC	0.378																																																0													230	220	223					16																	68200896		2198	4300	6498	SO:0001819	synonymous_variant	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1752A>T	16.37:g.68200896A>T			O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	CCDS10860.1																																																																																				0.378	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		T	68200896	A	T	68200896	2	4	97	1	0	0	0	0	0	0	0	1	10366	410	15	5		5	NFATC3	16	68200896	Silent	SNP	A	TCGA-AK-3431-01A-02D-1361-10	65384496	68200896	22153857	58	6368											
NFAT5	10725	hgsc.bcm.edu	37	16	69726498	69726498	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr16:69726498C>G	ENST00000354436.2	+	12	3034	c.2716C>G	c.(2716-2718)Cag>Gag	p.Q906E	NFAT5_ENST00000566899.1_Missense_Mutation_p.Q830E|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q830E|NFAT5_ENST00000567239.1_Missense_Mutation_p.Q923E|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q924E|NFAT5_ENST00000349945.1_Missense_Mutation_p.Q830E	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	906					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						GAGTATCTGCCAGGCAGCTGC	0.473																																																0													59	57	58					16																	69726498		2198	4300	6498	SO:0001583	missense	10725			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.2716C>G	16.37:g.69726498C>G	ENSP00000346420:p.Gln906Glu		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653237	0.29425	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.42900	0.96;0.96;0.97;0.96	5.49	5.49	0.81192	.	0.189057	0.47455	D	0.000232	T	0.36166	0.0957	L	0.41236	1.265	0.47476	D	0.999434	P;B;P	0.39131	0.661;0.432;0.635	B;B;B	0.36464	0.147;0.104;0.225	T	0.08659	-1.0711	10	0.14252	T	0.57	-0.9472	19.7404	0.96228	0.0:1.0:0.0:0.0	.	923;906;924	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	E	924;923;830;906;830	ENSP00000396538:Q924E;ENSP00000338806:Q830E;ENSP00000346420:Q906E;ENSP00000377343:Q830E	ENSP00000338806:Q830E	Q	+	1	0	NFAT5	68283999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.747000	0.68689	2.734000	0.93682	0.655000	0.94253	CAG		0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		G	69726498	C	G	69726498	3	3	97	1	0	0	0	0	1	0	0	0	10362	595	21	4	2820	4	NFAT5	16	69726498	Missense_Mutation	SNP	C	TCGA-AK-3431-01A-02D-1361-10	1525602	69726498	20628255	59	6369											
C16orf55	124045	hgsc.bcm.edu	37	16	89735835	89735835	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr16:89735835A>C	ENST00000301031.4	+	3	350	c.350A>C	c.(349-351)gAc>gCc	p.D117A	SPATA33_ENST00000579310.1_Missense_Mutation_p.D118A	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	117						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAGCCGGAGGACTGGGGCCCC	0.557																																																0													62	70	68					16																	89735835		2198	4300	6498	SO:0001583	missense	124045			AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"chromosome 16 open reading frame 55"	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.350A>C	16.37:g.89735835A>C	ENSP00000301031:p.Asp117Ala		A8WFL2|B4DZN8	Missense_Mutation	SNP	ENST00000301031.4	37	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	A	9.618	1.132984	0.21041	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.56103	0.48	4.5	2.2	0.27929	.	1.159430	0.06517	N	0.739076	T	0.41003	0.1140	L	0.29908	0.895	0.09310	N	1	B;P	0.37101	0.408;0.582	B;B	0.37387	0.15;0.248	T	0.35076	-0.9803	10	0.66056	D	0.02	-11.1496	4.7547	0.13077	0.7066:0.1915:0.1019:0.0	.	118;117	B4DZN8;Q96N06	.;CP055_HUMAN	A	117;118	ENSP00000301031:D117A	ENSP00000301031:D117A	D	+	2	0	C16orf55	88263336	0.000000	0.05858	0.001000	0.08648	0.209000	0.24338	0.284000	0.18864	0.211000	0.20683	0.472000	0.43445	GAC		0.557	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269924.2	NM_153025		C	89735835	A	C	89735835	3	2	97	1	0	0	0	0	1	0	0	0	1822	275	10	5	360	5	C16orf55	16	89735835	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	20009337	89735835	618918	60	6370											
SLFN5	162394	hgsc.bcm.edu;ucsc.edu	37	17	33586478	33586478	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr17:33586478G>T	ENST00000299977.4	+	2	917	c.769G>T	c.(769-771)Ggc>Tgc	p.G257C	SLFN5_ENST00000542451.1_Missense_Mutation_p.G257C|SLFN5_ENST00000592325.1_Missense_Mutation_p.G257C	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	257					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TTCTATTGATGGCTGTATTAA	0.423																																																0													132	134	133					17																	33586478		2203	4300	6503	SO:0001583	missense	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.769G>T	17.37:g.33586478G>T	ENSP00000299977:p.Gly257Cys		Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	2.388	-0.340594	0.05243	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.59772	0.24;0.24	3.68	-7.36	0.01417	.	2.499900	0.01828	N	0.034491	T	0.41190	0.1148	L	0.34521	1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.001;0.001;0.005	T	0.26608	-1.0098	10	0.62326	D	0.03	.	2.2456	0.04031	0.4596:0.1009:0.1038:0.3357	.	257;257;257	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	C	257	ENSP00000299977:G257C;ENSP00000440537:G257C	ENSP00000299977:G257C	G	+	1	0	SLFN5	30610591	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-6.898000	0.00050	-3.972000	0.00086	-1.686000	0.00732	GGC		0.423	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		T	33586478	G	T	33586478	3	4	97	1	0	0	0	0	1	0	0	0	14743	1348	47	4	771	4	SLFN5	17	33586478	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10		33586478	47608732	61	6371											
SDK2	54549	hgsc.bcm.edu	37	17	71418510	71418510	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr17:71418510C>T	ENST00000392650.3	-	15	1961	c.1961G>A	c.(1960-1962)gGc>gAc	p.G654D	SDK2_ENST00000388726.3_Missense_Mutation_p.G654D	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	654	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGGAACCAGGCCCTTGACTGT	0.592																																																0													177	143	155					17																	71418510		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1961G>A	17.37:g.71418510C>T	ENSP00000376421:p.Gly654Asp		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642696	0.47153	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.56275	0.47;0.47	5.12	4.15	0.48705	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.061278	0.64402	D	0.000003	T	0.41236	0.1150	L	0.39245	1.2	0.53005	D	0.999968	B;B	0.13594	0.007;0.008	B;B	0.25614	0.036;0.062	T	0.22661	-1.0210	10	0.22706	T	0.39	.	9.1849	0.37165	0.0:0.8349:0.0:0.1651	.	654;654	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	D	278;654;654;654	ENSP00000376421:G654D;ENSP00000373378:G654D	ENSP00000324967:G654D	G	-	2	0	SDK2	68930105	0.997000	0.39634	0.986000	0.45419	0.835000	0.47333	3.009000	0.49552	2.373000	0.80994	0.462000	0.41574	GGC		0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		T	71418510	C	T	71418510	3	4	97	1	0	0	0	0	1	0	0	0	13975	739	26	2	4681	2	SDK2	17	71418510	Missense_Mutation	SNP	C	TCGA-AK-3431-01A-02D-1361-10	37832032	71418510	9776700	62	6372											
NDC80	10403	hgsc.bcm.edu	37	18	2587917	2587917	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr18:2587917A>G	ENST00000261597.4	+	8	940	c.758A>G	c.(757-759)aAa>aGa	p.K253R		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	253	Interaction with NEK2 and ZWINT.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CTGCAGTCAAAACTGAGTAAG	0.403																																																0													110	99	103					18																	2587917		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.758A>G	18.37:g.2587917A>G	ENSP00000261597:p.Lys253Arg		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.588496	0.28357	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.56103	0.48	5.71	5.71	0.89125	.	0.042881	0.85682	D	0.000000	T	0.44623	0.1302	L	0.52364	1.645	0.48975	D	0.999739	B	0.21905	0.062	B	0.17722	0.019	T	0.34625	-0.9821	10	0.23891	T	0.37	-19.0159	10.3494	0.43924	0.927:0.0:0.073:0.0	.	253	O14777	NDC80_HUMAN	R	253	ENSP00000261597:K253R	ENSP00000261597:K253R	K	+	2	0	NDC80	2577917	1.000000	0.71417	0.993000	0.49108	0.276000	0.26787	4.351000	0.59398	2.180000	0.69256	0.533000	0.62120	AAA		0.403	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		G	2587917	A	G	2587917	3	3	97	1	0	0	0	0	1	0	0	0	10244	14	1	3	784	3	NDC80	18	2587917	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10		2587917	75489331	63	6373											
CD97	976	hgsc.bcm.edu;ucsc.edu	37	19	14512530	14512530	+	Missense_Mutation	SNP	A	A	G	rs145167749		TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr19:14512530A>G	ENST00000242786.5	+	11	1221	c.1141A>G	c.(1141-1143)Atg>Gtg	p.M381V	CD97_ENST00000358600.3_Missense_Mutation_p.M288V|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.M332V	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	381					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGCGCACGCATGAAGCTGAA	0.627													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17897	0.0		0.0	False		,,,				2504	0.0															0								A	VAL/MET,VAL/MET,VAL/MET	5,4401	11.4+/-27.6	0,5,2198	61	52	55		994,862,1141	0.8	0	19	dbSNP_134	55	0,8600		0,0,4300	yes	missense,missense,missense	CD97	NM_001025160.2,NM_001784.4,NM_078481.3	21,21,21	0,5,6498	GG,GA,AA		0.0,0.1135,0.0384	probably-damaging,probably-damaging,probably-damaging	332/787,288/743,381/836	14512530	5,13001	2203	4300	6503	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1141A>G	19.37:g.14512530A>G	ENSP00000242786:p.Met381Val		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746489	0.30955	0.001135	0.0	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.70986	-0.53;-0.45;-0.07	5.15	0.781	0.18561	.	.	.	.	.	T	0.67420	0.2891	M	0.81802	2.56	0.09310	N	1	B;B;B	0.33748	0.423;0.423;0.006	B;B;B	0.31946	0.138;0.138;0.004	T	0.56353	-0.7993	9	0.44086	T	0.13	.	7.2414	0.26098	0.6061:0.0:0.3938:0.0	.	288;332;381	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	V	381;332;288;331	ENSP00000242786:M381V;ENSP00000349918:M332V;ENSP00000351413:M288V	ENSP00000242786:M381V	M	+	1	0	CD97	14373530	0.430000	0.25538	0.003000	0.11579	0.177000	0.22998	0.139000	0.16036	-0.193000	0.10415	0.454000	0.30748	ATG		0.627	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		G	14512530	A	G	14512530	3	3	97	1	0	0	0	0	1	0	0	0	3051	217	8	3	1183	3	CD97	19	14512530	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10		14512530	44616453	64	6374											
ERCC2	2068	hgsc.bcm.edu	37	19	45872351	45872351	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr19:45872351C>T	ENST00000391945.4	-	3	237	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	ERCC2_ENST00000391944.3_Missense_Mutation_p.A54T|ERCC2_ENST00000485403.2_Missense_Mutation_p.A30T|ERCC2_ENST00000391940.4_Missense_Mutation_p.A30T|ERCC2_ENST00000221481.6_Missense_Mutation_p.A54T	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	54	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGATCAGGGCCAACAGGGAT	0.582			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"		E	0													207	193	198					19																	45872351		2203	4300	6503	SO:0001583	missense	2068	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.160G>A	19.37:g.45872351C>T	ENSP00000375809:p.Ala54Thr		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412134	0.62511	.	.	ENSG00000104884	ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940;ENST00000221481	T;T;T;T	0.74106	-0.58;-0.58;0.83;-0.81	4.98	3.92	0.45320	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.120187	0.56097	D	0.000022	T	0.61912	0.2385	N	0.20986	0.625	0.45239	D	0.998249	B;B;B	0.20164	0.002;0.042;0.007	B;B;B	0.29524	0.001;0.103;0.006	T	0.58132	-0.7690	10	0.42905	T	0.14	-9.0048	10.5971	0.45345	0.3493:0.6507:0.0:0.0	.	54;30;54	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	T	30;54;54;30;54	ENSP00000375809:A54T;ENSP00000375808:A54T;ENSP00000375804:A30T;ENSP00000221481:A54T	ENSP00000221481:A54T	A	-	1	0	ERCC2	50564191	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	2.084000	0.41625	1.171000	0.42768	0.561000	0.74099	GCC		0.582	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		T	45872351	C	T	45872351	3	4	97	1	0	0	0	0	1	0	0	0	5215	739	26	2	2263	2	ERCC2	19	45872351	Missense_Mutation	SNP	C	TCGA-AK-3431-01A-02D-1361-10	31359821	45872351	13256632	65	6375											
ZNF577	84765	hgsc.bcm.edu;ucsc.edu	37	19	52376920	52376920	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr19:52376920G>C	ENST00000301399.5	-	7	688	c.323C>G	c.(322-324)tCt>tGt	p.S108C	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000451628.2_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAATGCATCAGAATCTTTTCC	0.378																																																0													63	57	59					19																	52376920		2203	4300	6503	SO:0001583	missense	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.323C>G	19.37:g.52376920G>C	ENSP00000301399:p.Ser108Cys		A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	10.61	1.398434	0.25205	.	.	ENSG00000161551	ENST00000301399;ENST00000458390	T;T	0.07216	3.21;3.21	2.68	-0.977	0.10282	.	.	.	.	.	T	0.09247	0.0228	M	0.75615	2.305	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.34875	-0.9811	9	0.35671	T	0.21	.	3.3884	0.07280	0.1059:0.1686:0.5524:0.1731	.	108	Q9BSK1	ZN577_HUMAN	C	108	ENSP00000301399:S108C;ENSP00000404509:S108C	ENSP00000301399:S108C	S	-	2	0	ZNF577	57068732	0.077000	0.21312	0.000000	0.03702	0.062000	0.15995	2.858000	0.48356	-0.113000	0.11958	-0.518000	0.04402	TCT		0.378	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		C	52376920	G	C	52376920	3	2	97	1	0	0	0	0	1	0	0	0	18014	942	33	4	1138	4	ZNF577	19	52376920	Missense_Mutation	SNP	G	TCGA-AK-3431-01A-02D-1361-10	6504569	52376920	6752063	66	6376											
C20orf30	29058	hgsc.bcm.edu	37	20	5081570	5081570	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr20:5081570T>C	ENST00000379286.2	-	5	650	c.230A>G	c.(229-231)gAc>gGc	p.D77G	TMEM230_ENST00000202834.7_Missense_Mutation_p.D77G|TMEM230_ENST00000379279.2_Missense_Mutation_p.D77G|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000342308.5_Missense_Mutation_p.D140G|RNA5SP474_ENST00000391234.1_RNA|TMEM230_ENST00000379283.2_Missense_Mutation_p.D77G|TMEM230_ENST00000379277.2_Missense_Mutation_p.D77G	NM_001009924.1	NP_001009924.1	Q96A57	TM230_HUMAN	transmembrane protein 230	77						integral component of membrane (GO:0016021)											AACGGCCCGGTCTGCCCCCTG	0.468											OREG0025754	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													80	73	75					20																	5081570		2203	4300	6503	SO:0001583	missense	0			AF161392	CCDS13086.1, CCDS33438.1	20p13	2012-03-16	2012-03-16	2012-03-16	ENSG00000089063	ENSG00000089063			15876	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 30"	C20orf30			Standard	XM_005260713		Approved	HSPC274	uc002wlk.3	Q96A57	OTTHUMG00000031796	ENST00000379286.2:c.230A>G	20.37:g.5081570T>C	ENSP00000368588:p.Asp77Gly	623	B2RDM8|D3DVZ9|Q0VGC8|Q5TDS5|Q96ES2|Q9P0A7	Missense_Mutation	SNP	ENST00000379286.2	37	CCDS13086.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178141	0.57692	.	.	ENSG00000089063	ENST00000379283;ENST00000342308;ENST00000379299;ENST00000202834;ENST00000379286;ENST00000379279;ENST00000379277	T	0.48201	0.82	4.81	4.81	0.61882	.	0.087252	0.85682	D	0.000000	T	0.54029	0.1833	M	0.87547	2.89	0.58432	D	0.999999	B;B	0.19331	0.003;0.035	B;B	0.18561	0.015;0.022	T	0.57883	-0.7734	10	0.48119	T	0.1	-17.9309	13.3278	0.60469	0.0:0.0:0.0:1.0	.	77;140	Q96A57;Q96A57-2	CT030_HUMAN;.	G	77;140;77;77;77;77;77	ENSP00000341364:D140G	ENSP00000202834:D77G	D	-	2	0	C20orf30	5029570	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.158000	0.77470	2.016000	0.59253	0.477000	0.44152	GAC		0.468	TMEM230-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077846.1			C	5081570	T	C	5081570	3	2	97	1	0	0	0	0	1	0	0	0	2112	1667	58	3	136	3	C20orf30	20	5081570	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10		5081570	57943950	67	6377											
C20orf26	26074	hgsc.bcm.edu;ucsc.edu	37	20	20269500	20269500	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr20:20269500A>G	ENST00000245957.5	+	23	3120	c.3044A>G	c.(3043-3045)gAt>gGt	p.D1015G	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1015										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CATCTCTTTGATCCAACCCTT	0.468																																																0													66	57	60					20																	20269500		2203	4300	6503	SO:0001583	missense	26074																														ENST00000245957.5:c.3044A>G	20.37:g.20269500A>G	ENSP00000245957:p.Asp1015Gly		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320836	0.60634	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.13657	2.57	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.40040	0.1101	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.22068	-1.0227	10	0.39692	T	0.17	.	15.5759	0.76387	1.0:0.0:0.0:0.0	.	1015	Q8NHU2	CT026_HUMAN	G	955;981;1015	ENSP00000245957:D1015G	ENSP00000245957:D1015G	D	+	2	0	C20orf26	20217500	1.000000	0.71417	0.994000	0.49952	0.174000	0.22865	9.002000	0.93572	2.088000	0.63022	0.528000	0.53228	GAT		0.468	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			G	20269500	A	G	20269500	3	3	97	1	0	0	0	0	1	0	0	0	2108	333	12	3	3162	3	C20orf26	20	20269500	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10	15187930	20269500	42756020	68	6378											
NCOA6	23054	hgsc.bcm.edu	37	20	33356290	33356290	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr20:33356290C>T	ENST00000374796.2	-	6	3061	c.491G>A	c.(490-492)gGa>gAa	p.G164E	NCOA6_ENST00000359003.2_Missense_Mutation_p.G164E			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	164	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATAGGAAATCCCGCCTCCAT	0.463																																																0													145	128	134					20																	33356290		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.491G>A	20.37:g.33356290C>T	ENSP00000363929:p.Gly164Glu		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935247	0.52866	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.35421	1.31;1.31	5.56	2.39	0.29439	.	0.319686	0.27622	N	0.018552	T	0.30603	0.0770	L	0.50333	1.59	0.45035	D	0.998054	B;B	0.18968	0.018;0.032	B;B	0.26202	0.027;0.067	T	0.10870	-1.0611	10	0.49607	T	0.09	-1.1939	7.0037	0.24823	0.0:0.5869:0.2705:0.1426	.	164;164	F6M2K2;Q14686	.;NCOA6_HUMAN	E	164	ENSP00000363929:G164E;ENSP00000351894:G164E	ENSP00000351894:G164E	G	-	2	0	NCOA6	32819951	1.000000	0.71417	0.978000	0.43139	0.067000	0.16453	2.503000	0.45407	0.704000	0.31869	-0.229000	0.12294	GGA		0.463	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		T	33356290	C	T	33356290	3	4	97	1	0	0	0	0	1	0	0	0	10235	855	30	2	5744	2	NCOA6	20	33356290	Missense_Mutation	SNP	C	TCGA-AK-3431-01A-02D-1361-10	13086790	33356290	29669230	69	6379											
TAF4	6874	hgsc.bcm.edu	37	20	60551323	60551323	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr20:60551323T>A	ENST00000252996.4	-	15	3158	c.3159A>T	c.(3157-3159)caA>caT	p.Q1053H		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	1053					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GCGTGATTCTTTGTCGCGTGA	0.522																																																0													105	112	110					20																	60551323		2203	4300	6503	SO:0001583	missense	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.3159A>T	20.37:g.60551323T>A	ENSP00000252996:p.Gln1053His		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502330	0.44455	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.26373	1.74;1.74	5.35	-0.35	0.12606	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	M	0.64997	1.995	0.49915	D	0.999832	D	0.89917	1.0	D	0.91635	0.999	T	0.07028	-1.0794	10	0.45353	T	0.12	-8.1595	9.5135	0.39091	0.0:0.2852:0.0:0.7148	.	1053	O00268	TAF4_HUMAN	H	1053;917	ENSP00000252996:Q1053H;ENSP00000399091:Q917H	ENSP00000252996:Q1053H	Q	-	3	2	TAF4	59984718	1.000000	0.71417	0.970000	0.41538	0.203000	0.24098	0.968000	0.29357	-0.351000	0.08249	-0.290000	0.09829	CAA		0.522	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		A	60551323	T	A	60551323	3	1	97	1	0	0	0	0	1	0	0	0	15531	1838	64	5	102	5	TAF4	20	60551323	Missense_Mutation	SNP	T	TCGA-AK-3431-01A-02D-1361-10	27195033	60551323	2474197	70	6380											
MICAL3	57553	hgsc.bcm.edu	37	22	18389489	18389489	+	Silent	SNP	C	C	T			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr22:18389489C>T	ENST00000441493.2	-	2	442	c.90G>A	c.(88-90)aaG>aaA	p.K30K	MICAL3_ENST00000444520.1_Silent_p.K30K|MICAL3_ENST00000429452.1_Silent_p.K30K|MICAL3_ENST00000207726.7_Silent_p.K30K|MICAL3_ENST00000383094.3_Silent_p.K30K|MICAL3_ENST00000400561.2_Silent_p.K30K|MICAL3_ENST00000414725.2_Silent_p.K30K|MICAL3_ENST00000585038.1_Silent_p.K30K	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	30	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCTGGAAAGCCTTGAGGGTTC	0.527																																																0													152	142	145					22																	18389489		1568	3582	5150	SO:0001819	synonymous_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.90G>A	22.37:g.18389489C>T			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	CCDS46659.1																																																																																				0.527	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			T	18389489	C	T	18389489	2	4	97	1	0	0	0	0	0	0	0	1	9573	680	24	2		2	MICAL3	22	18389489	Silent	SNP	C	TCGA-AK-3431-01A-02D-1361-10		18389489	32915077	71	6381											
MTMR3	8897	hgsc.bcm.edu	37	22	30403925	30403925	+	Silent	SNP	T	T	C			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chr22:30403925T>C	ENST00000401950.2	+	11	1255	c.913T>C	c.(913-915)Tta>Cta	p.L305L	MTMR3_ENST00000351488.3_Silent_p.L305L|MTMR3_ENST00000333027.3_Silent_p.L305L|MTMR3_ENST00000406629.1_Silent_p.L305L|MTMR3_ENST00000323630.5_Silent_p.L169L|CTA-85E5.10_ENST00000429350.1_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	305	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AGCAGAGAGTTTAGCCATCCA	0.517																																																0													102	95	97					22																	30403925		2203	4300	6503	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.913T>C	22.37:g.30403925T>C			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																				0.517	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		C	30403925	T	C	30403925	2	2	97	1	0	0	0	0	0	0	0	1	9947	1838	64	3		3	MTMR3	22	30403925	Silent	SNP	T	TCGA-AK-3431-01A-02D-1361-10	12014436	30403925	20900641	72	6382											
PLXNA3	55558	hgsc.bcm.edu;ucsc.edu	37	X	153699964	153699964	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3431-01A-02D-1361-10	TCGA-AK-3431-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3edc98c2-fa19-4304-b755-eaa3c7977058	bcfea68f-0d4d-44f2-8d20-41bd03b717cb	g.chrX:153699964A>G	ENST00000369682.3	+	32	5678	c.5503A>G	c.(5503-5505)Acc>Gcc	p.T1835A		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1835					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTCTATGTCACCAAGTACCG	0.592																																																0													86	66	73					X																	153699964		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5503A>G	X.37:g.153699964A>G	ENSP00000358696:p.Thr1835Ala		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642637	0.29246	.	.	ENSG00000130827	ENST00000369682	T	0.17054	2.3	4.93	3.76	0.43208	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.056293	0.64402	D	0.000002	T	0.11879	0.0289	L	0.45581	1.43	0.27109	N	0.96242	B	0.02656	0.0	B	0.08055	0.003	T	0.39643	-0.9604	10	0.06494	T	0.89	.	7.0722	0.25185	0.8077:0.0:0.1923:0.0	.	1835	P51805	PLXA3_HUMAN	A	1835	ENSP00000358696:T1835A	ENSP00000358696:T1835A	T	+	1	0	PLXNA3	153353158	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	2.692000	0.47018	0.571000	0.29365	0.356000	0.21956	ACC		0.592	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		G	153699964	A	G	153699964	3	3	97	1	0	0	0	0	1	0	0	0	12123	159	6	3	5625	3	PLXNA3	23	153699964	Missense_Mutation	SNP	A	TCGA-AK-3431-01A-02D-1361-10		153699964	1570596	73	6383											
KIAA1751	85452	hgsc.bcm.edu	37	1	1897857	1897857	+	IGR	SNP	C	C	A			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr1:1897857C>A								TMEM52 (47145 upstream) : C1orf222 (21705 downstream)																							ATCTCGGGCTCAGCTAACGTT	0.612																																																0													49	56	54					1																	1897857		1940	4121	6061	SO:0001628	intergenic_variant	85452																															1.37:g.1897857C>A				Nonsense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	c	19.91	3.915037	0.72983	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.87	-1.64	0.08318	.	0.501859	0.19066	N	0.123629	.	.	.	.	.	.	0.20074	N	0.999932	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-4.8261	0.9991	0.01473	0.1436:0.2924:0.2824:0.2816	.	.	.	.	X	452	.	ENSP00000270720:E452X	E	-	1	0	C1orf222	1887717	0.000000	0.05858	0.005000	0.12908	0.223000	0.24884	-0.565000	0.05929	-0.478000	0.06823	0.457000	0.33378	GAG	0	0.612									A	1897857	C	A	1897857	1	1	98	0	1	0	0	0	0	0	0	0	8258	835	29	4		4	KIAA1751	1	1897857	IGR	SNP	C	TCGA-AK-3434-01A-02D-1361-10		1897857	247352764	1	6384											
TCEA3	6920	hgsc.bcm.edu;ucsc.edu	37	1	23751094	23751094	+	Silent	SNP	G	G	A			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr1:23751094G>A	ENST00000450454.2	-	1	139	c.33C>T	c.(31-33)gcC>gcT	p.A11A	TCEA3_ENST00000374601.3_Silent_p.A11A	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	11	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		CCAGCTTTTTGGCGATCCTCA	0.711																																																0													85	90	88					1																	23751094		2026	4207	6233	SO:0001819	synonymous_variant	6920			AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.33C>T	1.37:g.23751094G>A			A8K2K7|Q5DR83	Silent	SNP	ENST00000450454.2	37	CCDS44086.1																																																																																				0.711	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		A	23751094	G	A	23751094	2	1	98	1	0	0	0	0	0	0	0	1	15674	1335	47	2		2	TCEA3	1	23751094	Silent	SNP	G	TCGA-AK-3434-01A-02D-1361-10	21853237	23751094	225499527	2	6385											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144864284	144864284	+	Silent	SNP	C	C	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr1:144864284C>G	ENST00000369354.3	-	36	6000	c.5811G>C	c.(5809-5811)ctG>ctC	p.L1937L	PDE4DIP_ENST00000530740.1_Silent_p.L2022L|PDE4DIP_ENST00000313382.9_Silent_p.L1831L|PDE4DIP_ENST00000369356.4_Silent_p.L1937L|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369359.4_Silent_p.L2073L|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1937					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCGAGAGGACAGCAGAGCCT	0.532			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													107	115	113					1																	144864284		2203	4298	6501	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5811G>C	1.37:g.144864284C>G			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	1.214	-0.628822	0.03610	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.52	-5.36	0.02689	.	.	.	.	.	T	0.14013	0.0339	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	.	10.6496	0.45640	0.0944:0.1679:0.6638:0.0739	.	.	.	.	S	94	.	.	C	-	2	0	PDE4DIP	143575641	0.002000	0.14202	0.001000	0.08648	0.395000	0.30598	-0.546000	0.06062	-1.150000	0.02840	-0.182000	0.12963	TGT		0.532	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		G	144864284	C	G	144864284	2	3	98	1	0	0	0	0	0	0	0	1	11645	465	17	4		4	PDE4DIP	1	144864284	Silent	SNP	C	TCGA-AK-3434-01A-02D-1361-10	121113190	144864284	104386337	3	6386											
ANKRD35	148741	hgsc.bcm.edu	37	1	145562502	145562504	+	In_Frame_Del	DEL	GGC	GGC	-	rs146166584	byFrequency	TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr1:145562502_145562504delGGC	ENST00000355594.4	+	10	2277_2279	c.2190_2192delGGC	c.(2188-2193)cgggcc>cgc	p.A731del		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	731										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAGCTGCGGGCCTGCATCAGC	0.66																																					Melanoma(9;127 754 22988 51047)											0																																										SO:0001651	inframe_deletion	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2190_2192delGGC	1.37:g.145562502_145562504delGGC	ENSP00000347802:p.Ala731del		A6NEU0|B4DL62|Q3MJ10|Q96LS3	In_Frame_Del	DEL	ENST00000355594.4	37	CCDS919.1																																																																																				0.66	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		-	145562504	GGC	-	145562502	7	5	98	1	0	1	0	1	0	0	0	0	664	1219	43	0	2228	0	ANKRD35	1	145562502	In_Frame_Del	DEL	GGC	TCGA-AK-3434-01A-02D-1361-10	698218	145562502	103688119	4	6387											
DISP1	84976	hgsc.bcm.edu	37	1	223116653	223116653	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr1:223116653A>G	ENST00000284476.6	+	2	652	c.488A>G	c.(487-489)cAa>cGa	p.Q163R	DISP1_ENST00000360254.2_Missense_Mutation_p.Q163R|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	163					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CAGCCTGTGCAACAGCACATA	0.448																																																0													118	93	102					1																	223116653		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.488A>G	1.37:g.223116653A>G	ENSP00000284476:p.Gln163Arg		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.832663	0.32421	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.92911	0.84;-3.13	5.5	-3.35	0.04928	.	0.588465	0.17792	N	0.161843	D	0.84911	0.5577	L	0.39898	1.24	0.09310	N	1	B	0.10296	0.003	B	0.16289	0.015	T	0.69094	-0.5236	10	0.30854	T	0.27	-0.3145	10.0397	0.42151	0.2823:0.5871:0.1306:0.0	.	163	Q96F81	DISP1_HUMAN	R	163	ENSP00000355848:Q163R;ENSP00000284476:Q163R	ENSP00000284476:Q163R	Q	+	2	0	DISP1	221183276	0.003000	0.15002	0.022000	0.16811	0.973000	0.67179	-0.010000	0.12743	-0.956000	0.03631	-0.395000	0.06472	CAA		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		G	223116653	A	G	223116653	3	3	98	1	0	0	0	0	1	0	0	0	4541	130	5	3	490	3	DISP1	1	223116653	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	77554151	223116653	26133968	5	6388											
PDIA6	10130	hgsc.bcm.edu;ucsc.edu	37	2	10924442	10924442	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr2:10924442T>A	ENST00000272227.3	-	13	1412	c.1265A>T	c.(1264-1266)gAg>gTg	p.E422V	PDIA6_ENST00000404824.2_Missense_Mutation_p.E470V|PDIA6_ENST00000381611.4_Missense_Mutation_p.E427V|PDIA6_ENST00000404371.2_Missense_Mutation_p.E474V|ATP6V1C2_ENST00000381661.3_3'UTR|PDIA6_ENST00000540494.1_Missense_Mutation_p.E419V	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	422	Asp/Glu-rich (acidic).				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		AATGTCATCCTCCACGGGAAG	0.493																																					GBM(73;509 1219 34219 41343 41551)											0													97	87	91					2																	10924442		2203	4300	6503	SO:0001583	missense	10130			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1265A>T	2.37:g.10924442T>A	ENSP00000272227:p.Glu422Val		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711373	0.89112	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.05925	3.41;3.39;3.37;3.44;3.41	5.57	5.57	0.84162	.	0.044828	0.85682	D	0.000000	T	0.28699	0.0711	M	0.82923	2.615	0.80722	D	1	D;P;P;B	0.76494	0.999;0.928;0.928;0.241	D;P;P;B	0.83275	0.996;0.714;0.714;0.211	T	0.02837	-1.1104	10	0.62326	D	0.03	.	15.74	0.77887	0.0:0.0:0.0:1.0	.	419;470;474;422	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	V	422;474;470;419;427	ENSP00000272227:E422V;ENSP00000385385:E474V;ENSP00000384459:E470V;ENSP00000438778:E419V;ENSP00000371024:E427V	ENSP00000272227:E422V	E	-	2	0	PDIA6	10841893	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.922000	0.87538	2.133000	0.65898	0.533000	0.62120	GAG		0.493	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		A	10924442	T	A	10924442	3	1	98	1	0	0	0	0	1	0	0	0	11674	1551	54	5	61	5	PDIA6	2	10924442	Missense_Mutation	SNP	T	TCGA-AK-3434-01A-02D-1361-10		10924442	232274931	6	6389											
NCOA1	8648	hgsc.bcm.edu;ucsc.edu	37	2	24933874	24933874	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr2:24933874T>G	ENST00000406961.1	+	14	3145	c.2493T>G	c.(2491-2493)tgT>tgG	p.C831W	NCOA1_ENST00000407230.1_Missense_Mutation_p.C680W|NCOA1_ENST00000395856.3_Missense_Mutation_p.C831W|NCOA1_ENST00000538539.1_Missense_Mutation_p.C831W|NCOA1_ENST00000348332.3_Missense_Mutation_p.C831W|NCOA1_ENST00000405141.1_Missense_Mutation_p.C831W|NCOA1_ENST00000288599.5_Missense_Mutation_p.C831W			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	831	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCTTATGTGAGACAGACA	0.522			T	PAX3	alveolar rhadomyosarcoma																																		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													118	104	109					2																	24933874		2203	4300	6503	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2493T>G	2.37:g.24933874T>G	ENSP00000385216:p.Cys831Trp		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.819428	0.71028	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02067	4.58;4.58;4.47;4.58;4.58;4.58;4.58	5.95	3.48	0.39840	.	0.327788	0.32769	N	0.005664	T	0.03608	0.0103	N	0.08118	0	0.58432	D	0.999991	D;D;D;D	0.76494	0.999;0.999;0.99;0.999	D;D;P;D	0.81914	0.995;0.99;0.852;0.99	T	0.63283	-0.6672	10	0.38643	T	0.18	.	9.061	0.36433	0.0:0.2105:0.0:0.7895	.	831;831;831;680	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	W	831;831;680;831;831;831;831	ENSP00000385216:C831W;ENSP00000385097:C831W;ENSP00000385195:C680W;ENSP00000444039:C831W;ENSP00000320940:C831W;ENSP00000288599:C831W;ENSP00000379197:C831W	ENSP00000288599:C831W	C	+	3	2	NCOA1	24787378	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.034000	0.13776	1.025000	0.39708	0.460000	0.39030	TGT		0.522	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		G	24933874	T	G	24933874	3	3	98	1	0	0	0	0	1	0	0	0	10230	1702	59	5	2531	5	NCOA1	2	24933874	Missense_Mutation	SNP	T	TCGA-AK-3434-01A-02D-1361-10	14009432	24933874	218265499	7	6390											
OTOF	9381	hgsc.bcm.edu	37	2	26687848	26687848	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr2:26687848T>G	ENST00000272371.2	-	39	4975	c.4849A>C	c.(4849-4851)Acc>Ccc	p.T1617P	OTOF_ENST00000338581.6_Missense_Mutation_p.T850P|OTOF_ENST00000402415.3_Missense_Mutation_p.T927P|OTOF_ENST00000403946.3_Missense_Mutation_p.T1617P|OTOF_ENST00000339598.3_Missense_Mutation_p.T850P	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1617					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGGCGGGTCAGGATCTGG	0.622																																					GBM(102;732 1451 20652 24062 31372)											0													40	49	46					2																	26687848		2203	4300	6503	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4849A>C	2.37:g.26687848T>G	ENSP00000272371:p.Thr1617Pro		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777431	0.49786	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21	4.95	0.985	0.19779	.	0.278339	0.40728	N	0.001026	T	0.50017	0.1591	M	0.76002	2.32	0.32791	N	0.501107	B;B;B;B	0.29270	0.134;0.021;0.24;0.021	B;B;B;B	0.32022	0.058;0.139;0.128;0.139	T	0.49688	-0.8913	10	0.32370	T	0.25	-23.6185	3.5597	0.07877	0.3812:0.2126:0.0:0.4061	.	1617;850;927;850	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	P	850;850;927;1617;1617	ENSP00000345137:T850P;ENSP00000344521:T850P;ENSP00000383906:T927P;ENSP00000272371:T1617P;ENSP00000385255:T1617P	ENSP00000272371:T1617P	T	-	1	0	OTOF	26541352	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	0.780000	0.26760	0.260000	0.21731	0.459000	0.35465	ACC		0.622	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			G	26687848	T	G	26687848	3	3	98	1	0	0	0	0	1	0	0	0	11305	1667	58	5	1361	5	OTOF	2	26687848	Missense_Mutation	SNP	T	TCGA-AK-3434-01A-02D-1361-10	1753974	26687848	216511525	8	6391											
MAT2A	4144	hgsc.bcm.edu;ucsc.edu	37	2	85768223	85768223	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr2:85768223A>C	ENST00000306434.3	+	2	232	c.109A>C	c.(109-111)Atc>Ctc	p.I37L	MAT2A_ENST00000409017.1_5'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	37					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTGTGACCAAATCAGTGATGC	0.418																																																0													100	105	103					2																	85768223		2203	4300	6503	SO:0001583	missense	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.109A>C	2.37:g.85768223A>C	ENSP00000303147:p.Ile37Leu		A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582524	0.65992	.	.	ENSG00000168906	ENST00000306434;ENST00000424323	D	0.87412	-2.25	5.68	5.68	0.88126	S-adenosylmethionine synthetase, N-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	H	0.95004	3.61	0.80722	D	1	B	0.16802	0.019	B	0.34138	0.176	D	0.91164	0.4963	10	0.87932	D	0	-7.7483	14.1785	0.65559	1.0:0.0:0.0:0.0	.	37	P31153	METK2_HUMAN	L	37	ENSP00000303147:I37L	ENSP00000303147:I37L	I	+	1	0	MAT2A	85621734	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.962000	0.93254	2.288000	0.76882	0.528000	0.53228	ATC		0.418	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		C	85768223	A	C	85768223	3	2	98	1	0	0	0	0	1	0	0	0	9332	101	4	5	115	5	MAT2A	2	85768223	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	59080375	85768223	157431150	9	6392											
SNRNP200	23020	hgsc.bcm.edu;ucsc.edu	37	2	96959208	96959208	+	Silent	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr2:96959208A>G	ENST00000323853.5	-	15	1959	c.1882T>C	c.(1882-1884)Tta>Cta	p.L628L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	628	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AAAGCTTCTAAGACAGGACCT	0.478																																																0													146	147	147					2																	96959208		2203	4300	6503	SO:0001819	synonymous_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1882T>C	2.37:g.96959208A>G			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	CCDS2020.1																																																																																				0.478	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		G	96959208	A	G	96959208	2	3	98	1	0	0	0	0	0	0	0	1	14858	69	3	3		3	SNRNP200	2	96959208	Silent	SNP	A	TCGA-AK-3434-01A-02D-1361-10	11190985	96959208	146240165	10	6393											
ITGA6	3655	hgsc.bcm.edu;ucsc.edu	37	2	173349850	173349850	+	Splice_Site	SNP	A	A	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr2:173349850A>T	ENST00000264106.6	+	14	2032	c.1829A>T	c.(1828-1830)gAt>gTt	p.D610V	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Splice_Site_p.D571V|ITGA6_ENST00000409532.1_Splice_Site_p.D452V|ITGA6_ENST00000343713.4_Splice_Site_p.D566V|ITGA6_ENST00000375221.2_Splice_Site_p.D610V|ITGA6_ENST00000409080.1_Splice_Site_p.D571V			P23229	ITA6_HUMAN	integrin, alpha 6	610					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTCATGCAGGATAATATCAGA	0.423																																																0													88	83	85					2																	173349850		2203	4300	6503	SO:0001630	splice_region_variant	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1828-1A>T	2.37:g.173349850A>T			B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	A	17.51	3.408368	0.62399	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.8	5.8	0.92144	.	0.220687	0.53938	D	0.000042	T	0.56441	0.1985	L	0.52905	1.665	0.80722	D	1	B;P;B;P	0.39748	0.014;0.686;0.006;0.534	B;P;B;B	0.48488	0.026;0.579;0.025;0.429	T	0.59511	-0.7441	10	0.87932	D	0	.	15.8284	0.78733	1.0:0.0:0.0:0.0	.	566;610;571;571	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	V	452;571;610;610;566;571;610;566	ENSP00000386614:D452V;ENSP00000264107:D571V;ENSP00000264106:D610V;ENSP00000364369:D610V;ENSP00000341078:D566V;ENSP00000386896:D571V;ENSP00000406694:D610V;ENSP00000394169:D566V	ENSP00000264106:D610V	D	+	2	0	ITGA6	173058096	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.177000	0.89688	2.209000	0.71365	0.533000	0.62120	GAT		0.423	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	T	173349850	A	T	173349850	5	4	98	1	0	0	0	0	0	0	1	0	7882	347	12	5	1762	5	ITGA6	2	173349850	Splice_Site	SNP	A	TCGA-AK-3434-01A-02D-1361-10	76390642	173349850	69849523	11	6394											
SLC4A3	6508	hgsc.bcm.edu	37	2	220497112	220497112	+	Silent	SNP	T	T	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr2:220497112T>C	ENST00000358055.3	+	8	1601	c.1089T>C	c.(1087-1089)gtT>gtC	p.V363V	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Silent_p.V390V|SLC4A3_ENST00000317151.3_Silent_p.V363V|SLC4A3_ENST00000373760.2_Silent_p.V363V|SLC4A3_ENST00000373762.3_Silent_p.V390V			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	363					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCCATGTTGCCTCGCTCT	0.667																																																0													59	56	57					2																	220497112		2203	4300	6503	SO:0001819	synonymous_variant	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1089T>C	2.37:g.220497112T>C			A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	CCDS2445.1																																																																																				0.667	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		C	220497112	T	C	220497112	2	2	98	1	0	0	0	0	0	0	0	1	14661	1799	63	3		3	SLC4A3	2	220497112	Silent	SNP	T	TCGA-AK-3434-01A-02D-1361-10	47147262	220497112	22702261	12	6395											
KIAA1486	57624	hgsc.bcm.edu	37	2	226273688	226273688	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr2:226273688A>G	ENST00000272907.6	+	2	505	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	NYAP2_ENST00000409269.2_Missense_Mutation_p.Y31C	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	31					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ATGAAGGCCTATGATGGCTTG	0.403																																																0													146	132	136					2																	226273688		1899	4121	6020	SO:0001583	missense	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.92A>G	2.37:g.226273688A>G	ENSP00000272907:p.Tyr31Cys		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870217	0.72065	.	.	ENSG00000144460	ENST00000272907;ENST00000409269	T	0.62105	0.05	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000003	T	0.79522	0.4460	M	0.74881	2.28	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81835	-0.0750	10	0.87932	D	0	-22.1147	16.3594	0.83251	1.0:0.0:0.0:0.0	.	31;31	Q9P242-2;Q9P242	.;K1486_HUMAN	C	31	ENSP00000272907:Y31C	ENSP00000272907:Y31C	Y	+	2	0	KIAA1486	225981932	1.000000	0.71417	0.344000	0.25628	0.868000	0.49771	8.330000	0.90019	2.266000	0.75297	0.455000	0.32223	TAT		0.403	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		G	226273688	A	G	226273688	3	3	98	1	0	0	0	0	1	0	0	0	8239	449	16	3	94	3	KIAA1486	2	226273688	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	5776576	226273688	16925685	13	6396											
MTERFD2	130916	hgsc.bcm.edu;ucsc.edu	37	2	242038907	242038907	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr2:242038907A>T	ENST00000391980.2	-	2	482	c.424T>A	c.(424-426)Tgt>Agt	p.C142S	MTERFD2_ENST00000407095.3_Missense_Mutation_p.C142S|MTERFD2_ENST00000495694.1_Missense_Mutation_p.C142S|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		142					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		AAGACCACACACACAGGCTCT	0.448																																																0													118	121	120					2																	242038907		2203	4300	6503	SO:0001583	missense	130916																														ENST00000391980.2:c.424T>A	2.37:g.242038907A>T	ENSP00000375840:p.Cys142Ser		A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277986	0.40294	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.46819	0.86;0.9;2.87;2.87;2.87;0.92	5.03	5.03	0.67393	.	0.713447	0.13149	N	0.410077	T	0.43033	0.1229	L	0.43152	1.355	0.09310	N	0.999999	B;B	0.31274	0.317;0.175	B;B	0.38985	0.283;0.287	T	0.35500	-0.9786	10	0.21540	T	0.41	1.3772	8.4891	0.33089	0.9114:0.0:0.0886:0.0	.	142;142	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	S	142;142;142;135;142;121	ENSP00000419315:C142S;ENSP00000385183:C142S;ENSP00000375840:C142S;ENSP00000409023:C135S;ENSP00000385630:C142S;ENSP00000393063:C121S	ENSP00000241527:C142S	C	-	1	0	MTERFD2	241687580	0.443000	0.25641	0.268000	0.24571	0.983000	0.72400	1.702000	0.37836	1.898000	0.54952	0.482000	0.46254	TGT		0.448	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			T	242038907	A	T	242038907	3	4	98	1	0	0	0	0	1	0	0	0	9922	159	6	5	733	5	MTERFD2	2	242038907	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	15765219	242038907	1160466	14	6397											
NR2C2	7182	hgsc.bcm.edu;ucsc.edu	37	3	15076190	15076190	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr3:15076190A>C	ENST00000425241.1	+	11	1608	c.1246A>C	c.(1246-1248)Acc>Ccc	p.T416P	NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000393102.3_Missense_Mutation_p.T416P|NR2C2_ENST00000323373.6_Missense_Mutation_p.T435P|NR2C2_ENST00000406272.2_Missense_Mutation_p.T416P			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	416	Ligand-binding. {ECO:0000250}.				cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGACTGCAACACCAGCCTTGT	0.557																																																0													71	65	67					3																	15076190		2203	4300	6503	SO:0001583	missense	7182			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1246A>C	3.37:g.15076190A>C	ENSP00000388387:p.Thr416Pro		A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37		.	.	.	.	.	.	.	.	.	.	A	19.40	3.821004	0.71028	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272;ENST00000439011;ENST00000413194	D;D;D;D;D;D	0.98701	-4.1;-4.1;-4.1;-4.1;-5.08;-5.08	4.96	3.8	0.43715	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.957;0.998	D	0.99060	1.0830	10	0.87932	D	0	.	10.7673	0.46301	0.9248:0.0:0.0752:0.0	.	416;435	P49116;F2YGU2	NR2C2_HUMAN;.	P	416;435;416;416;30;11	ENSP00000388387:T416P;ENSP00000320447:T435P;ENSP00000376814:T416P;ENSP00000384463:T416P;ENSP00000412473:T30P;ENSP00000413438:T11P	ENSP00000320447:T435P	T	+	1	0	NR2C2	15051194	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.282000	0.95840	0.849000	0.35215	0.402000	0.26972	ACC		0.557	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		C	15076190	A	C	15076190	3	2	98	1	0	0	0	0	1	0	0	0	10625	159	6	5	1345	5	NR2C2	3	15076190	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10		15076190	182946240	15	6398											
KBTBD5	131377	hgsc.bcm.edu	37	3	42727420	42727420	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr3:42727420T>A	ENST00000287777.4	+	1	410	c.310T>A	c.(310-312)Ttg>Atg	p.L104M		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	104					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CGTGCAGGATTTGTTCGCCGC	0.617																																																0													81	85	84					3																	42727420		2203	4299	6502	SO:0001583	missense	0			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.310T>A	3.37:g.42727420T>A	ENSP00000287777:p.Leu104Met		Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.373978	0.42105	.	.	ENSG00000157119	ENST00000287777	T	0.71698	-0.59	4.78	0.542	0.17174	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.057932	0.64402	D	0.000004	T	0.77903	0.4200	M	0.77712	2.385	0.24417	N	0.99464	D	0.60575	0.988	D	0.66979	0.948	T	0.66988	-0.5784	10	0.72032	D	0.01	.	4.1298	0.10144	0.2371:0.4015:0.0:0.3613	.	104	Q2TBA0	KBTB5_HUMAN	M	104	ENSP00000287777:L104M	ENSP00000287777:L104M	L	+	1	2	KBTBD5	42702424	0.103000	0.21917	0.123000	0.21794	0.871000	0.50021	0.747000	0.26290	-0.040000	0.13580	-0.993000	0.02533	TTG		0.617	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		A	42727420	T	A	42727420	3	1	98	1	0	0	0	0	1	0	0	0	7998	1838	64	5	312	5	KBTBD5	3	42727420	Missense_Mutation	SNP	T	TCGA-AK-3434-01A-02D-1361-10	27651230	42727420	155295010	16	6399											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52610695	52610695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr3:52610695G>A	ENST00000296302.7	-	22	3554	c.3553C>T	c.(3553-3555)Cga>Tga	p.R1185*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R1153*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1160*|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1185	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1185*(3)|p.R1153*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCTCCATCTCGAACCCATACT	0.338			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	4	Substitution - Nonsense(4)	kidney(4)											76	73	74					3																	52610695		2202	4300	6502	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3553C>T	3.37:g.52610695G>A	ENSP00000296302:p.Arg1185*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	41	8.826239	0.98968	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1593	15.0475	0.71838	0.0:0.0:0.8573:0.1427	.	.	.	.	X	1153;1160;1185;1185;1185;1160;1200;1200;1184	.	ENSP00000296302:R1185X	R	-	1	2	PBRM1	52585735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.391000	0.66266	2.664000	0.90586	0.591000	0.81541	CGA		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52610695	G	A	52610695	4	1	98	1	0	0	0	0	0	1	0	0	11493	1066	37	1	1383	1	PBRM1	3	52610695	Nonsense_Mutation	SNP	G	TCGA-AK-3434-01A-02D-1361-10	9883275	52610695	145411735	17	6400											
TBC1D14	57533	hgsc.bcm.edu	37	4	7012491	7012491	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr4:7012491A>G	ENST00000409757.4	+	11	1754	c.1630A>G	c.(1630-1632)Aga>Gga	p.R544G	TBC1D14_ENST00000410031.1_Missense_Mutation_p.R316G|TBC1D14_ENST00000446947.2_Missense_Mutation_p.R191G|TBC1D14_ENST00000451522.2_Missense_Mutation_p.R264G|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R544G	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	544	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GGCGTTTTTTAGAGTGGACCA	0.438																																																0													218	198	205					4																	7012491		2203	4300	6503	SO:0001583	missense	57533			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1630A>G	4.37:g.7012491A>G	ENSP00000386921:p.Arg544Gly		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	A	14.54	2.565631	0.45694	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000439515;ENST00000446947	T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;3.68;2.77	5.45	4.6	0.57074	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	L	0.38649	1.16	0.80722	D	1	B;B;B	0.33549	0.178;0.095;0.417	B;B;B	0.40982	0.169;0.135;0.345	T	0.05517	-1.0880	10	0.45353	T	0.12	-10.6829	14.4306	0.67246	0.1539:0.8461:0.0:0.0	.	191;264;544	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	G	544;544;316;264;197;191	ENSP00000404041:R544G;ENSP00000386921:R544G;ENSP00000386343:R316G;ENSP00000388886:R264G;ENSP00000389082:R197G;ENSP00000405875:R191G	ENSP00000386921:R544G	R	+	1	2	TBC1D14	7063392	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.753000	0.55180	1.288000	0.44600	-0.418000	0.06021	AGA		0.438	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		G	7012491	A	G	7012491	3	3	98	1	0	0	0	0	1	0	0	0	15608	412	15	3	1675	3	TBC1D14	4	7012491	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10		7012491	184141785	18	6401											
TMEM33	55161	hgsc.bcm.edu	37	4	41941346	41941346	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr4:41941346A>G	ENST00000504986.1	+	3	639	c.274A>G	c.(274-276)Agc>Ggc	p.S92G	TMEM33_ENST00000325094.5_Missense_Mutation_p.S92G|TMEM33_ENST00000513702.1_Missense_Mutation_p.S92G	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	92						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						GTTAGAGGACAGCTGCCACTA	0.423																																																0													104	103	103					4																	41941346		2203	4300	6503	SO:0001583	missense	55161			BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.274A>G	4.37:g.41941346A>G	ENSP00000422473:p.Ser92Gly		B3KSS8|Q9H953	Missense_Mutation	SNP	ENST00000504986.1	37	CCDS3464.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977673	0.74360	.	.	ENSG00000109133	ENST00000504986;ENST00000508448;ENST00000513702;ENST00000325094	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.84585	2.705	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.83866	0.0271	9	0.59425	D	0.04	-8.5193	15.1692	0.72858	1.0:0.0:0.0:0.0	.	92	P57088	TMM33_HUMAN	G	92	.	ENSP00000441455:S92G	S	+	1	0	TMEM33	41636103	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.032000	0.70918	1.993000	0.58246	0.482000	0.46254	AGC		0.423	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126		G	41941346	A	G	41941346	3	3	98	1	0	0	0	0	1	0	0	0	16161	188	7	3	284	3	TMEM33	4	41941346	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	34928855	41941346	149212930	19	6402											
GUF1	60558	hgsc.bcm.edu	37	4	44700675	44700675	+	Silent	SNP	C	C	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr4:44700675C>T	ENST00000281543.5	+	17	2181	c.1987C>T	c.(1987-1989)Ctg>Ttg	p.L663L	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TATAAAAGTTCTGAAAACACA	0.308																																																0													49	54	53					4																	44700675		2203	4300	6503	SO:0001819	synonymous_variant	60558				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1987C>T	4.37:g.44700675C>T				Silent	SNP	ENST00000281543.5	37	CCDS3468.1																																																																																				0.308	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		T	44700675	C	T	44700675	2	4	98	1	0	0	0	0	0	0	0	1	6901	912	32	2		2	GUF1	4	44700675	Silent	SNP	C	TCGA-AK-3434-01A-02D-1361-10	2759329	44700675	146453601	20	6403											
NUDT9	53343	hgsc.bcm.edu;ucsc.edu	37	4	88359433	88359433	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr4:88359433A>C	ENST00000302174.4	+	3	676	c.352A>C	c.(352-354)Agt>Cgt	p.S118R	NUDT9_ENST00000473942.1_Missense_Mutation_p.S68R	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	118				S -> G (in Ref. 4; AAM46068). {ECO:0000305}.	ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TTACAGTGAAAGTAATTTTTC	0.338																																																0													79	78	79					4																	88359433		2203	4300	6503	SO:0001583	missense	53343			AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"Nudix motif containing"	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.352A>C	4.37:g.88359433A>C	ENSP00000303575:p.Ser118Arg		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000302174.4	37	CCDS3620.1	.	.	.	.	.	.	.	.	.	.	A	8.739	0.918577	0.17982	.	.	ENSG00000170502	ENST00000302174;ENST00000512216;ENST00000473942	T;T;T	0.74842	-0.88;-0.88;-0.88	5.49	4.29	0.51040	NUDIX hydrolase domain-like (1);	0.368712	0.31370	N	0.007775	T	0.54351	0.1853	N	0.20685	0.6	0.31324	N	0.685611	B	0.02656	0.0	B	0.01281	0.0	T	0.50250	-0.8850	10	0.17832	T	0.49	-1.8925	7.0725	0.25187	0.7739:0.1489:0.0771:0.0	.	118	Q9BW91	NUDT9_HUMAN	R	118;68;68	ENSP00000303575:S118R;ENSP00000424702:S68R;ENSP00000421811:S68R	ENSP00000303575:S118R	S	+	1	0	NUDT9	88578457	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.852000	0.55934	1.025000	0.39708	-0.328000	0.08392	AGT		0.338	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			C	88359433	A	C	88359433	3	2	98	1	0	0	0	0	1	0	0	0	10748	72	3	5	362	5	NUDT9	4	88359433	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	43658758	88359433	102794843	21	6404											
TRIM2	23321	hgsc.bcm.edu;ucsc.edu	37	4	154197264	154197264	+	Silent	SNP	C	C	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr4:154197264C>T	ENST00000437508.2	+	3	555	c.354C>T	c.(352-354)tgC>tgT	p.C118C	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Silent_p.C145C	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	118					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CTCTCTCTTGCCCAAACCACG	0.567																																																0													81	73	75					4																	154197264		2203	4300	6503	SO:0001819	synonymous_variant	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.354C>T	4.37:g.154197264C>T			D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	CCDS47147.1																																																																																				0.567	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			T	154197264	C	T	154197264	2	4	98	1	0	0	0	0	0	0	0	1	16499	747	26	2		2	TRIM2	4	154197264	Silent	SNP	C	TCGA-AK-3434-01A-02D-1361-10	65837831	154197264	36957012	22	6405											
KIF2A	3796	hgsc.bcm.edu	37	5	61659522	61659522	+	Splice_Site	SNP	A	A	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr5:61659522A>C	ENST00000401507.3	+	14	1574	c.1263A>C	c.(1261-1263)agA>agC	p.R421S	KIF2A_ENST00000407818.3_Splice_Site_p.R421S|KIF2A_ENST00000381103.2_Splice_Site_p.R401S|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Splice_Site_p.R375S	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	421	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CACATTGTAGAACATCCGGTC	0.338																																																0													87	90	89					5																	61659522		2203	4300	6503	SO:0001630	splice_region_variant	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1263-1A>C	5.37:g.61659522A>C			A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267853	0.59540	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	4.96	2.56	0.30785	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	H	0.98577	4.27	0.80722	D	1	D;D;D;D	0.89917	0.988;0.997;1.0;1.0	D;D;D;D	0.97110	0.994;0.99;1.0;0.996	T	0.75714	-0.3221	9	.	.	.	.	7.7734	0.29021	0.7502:0.0:0.2498:0.0	.	421;421;421;401	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	S	421;401;421;375	ENSP00000385622:R421S;ENSP00000370493:R401S;ENSP00000385000:R421S;ENSP00000423772:R375S	.	R	+	3	2	KIF2A	61695279	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.106000	0.41835	0.468000	0.27243	0.533000	0.62120	AGA		0.338	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520	Missense_Mutation	C	61659522	A	C	61659522	5	2	98	1	0	0	0	0	0	0	1	0	8299	260	9	5	1317	5	KIF2A	5	61659522	Splice_Site	SNP	A	TCGA-AK-3434-01A-02D-1361-10		61659522	119255738	23	6406											
SFRS12IP1	285672	hgsc.bcm.edu	37	5	64020311	64020311	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr5:64020311C>A	ENST00000513458.4	-	5	535	c.368G>T	c.(367-369)aGt>aTt	p.S123I		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	123	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						ttttgatttactctttttttc	0.299																																																0													40	34	36					5																	64020311		2188	4276	6464	SO:0001583	missense	285672			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"p18 splicing regulatory protein"		"SFRS12-interacting protein 1"	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.368G>T	5.37:g.64020311C>A	ENSP00000427401:p.Ser123Ile		Q32NC8	Missense_Mutation	SNP	ENST00000513458.4	37	CCDS34171.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227187	0.39399	.	.	ENSG00000153006	ENST00000513458	.	.	.	6.07	-0.274	0.12910	.	0.882658	0.10237	N	0.698886	T	0.29491	0.0735	L	0.36672	1.1	0.24271	N	0.99525	B	0.19445	0.036	B	0.18871	0.023	T	0.22556	-1.0213	9	0.44086	T	0.13	-6.6043	5.8847	0.18874	0.0:0.5137:0.1508:0.3355	.	123	Q8N9Q2	SR1IP_HUMAN	I	123	.	ENSP00000427401:S123I	S	-	2	0	SREK1IP1	64056067	0.797000	0.28877	0.937000	0.37676	0.960000	0.62799	-0.640000	0.05440	-0.378000	0.07918	0.655000	0.94253	AGT		0.299	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		A	64020311	C	A	64020311	3	1	98	1	0	0	0	0	1	0	0	0	14174	565	20	4	103	4	SFRS12IP1	5	64020311	Missense_Mutation	SNP	C	TCGA-AK-3434-01A-02D-1361-10	2360789	64020311	116894949	24	6407											
MAN2A1	4124	hgsc.bcm.edu;ucsc.edu	37	5	109049281	109049281	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr5:109049281A>G	ENST00000261483.4	+	2	1248	c.196A>G	c.(196-198)Aat>Gat	p.N66D		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	66					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGCTGAGAATAATGAGATCAT	0.388																																																0													90	90	90					5																	109049281		2202	4300	6502	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.196A>G	5.37:g.109049281A>G	ENSP00000261483:p.Asn66Asp		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713726	0.68730	.	.	ENSG00000112893	ENST00000261483	T	0.77358	-1.09	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.74258	2.255	0.58432	D	0.999999	B	0.27882	0.192	B	0.33690	0.168	T	0.74121	-0.3767	10	0.16420	T	0.52	-30.5856	15.5213	0.75869	1.0:0.0:0.0:0.0	.	66	Q16706	MA2A1_HUMAN	D	66	ENSP00000261483:N66D	ENSP00000261483:N66D	N	+	1	0	MAN2A1	109077180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.429000	0.59901	2.081000	0.62600	0.477000	0.44152	AAT		0.388	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			G	109049281	A	G	109049281	3	3	98	1	0	0	0	0	1	0	0	0	9216	362	13	3	202	3	MAN2A1	5	109049281	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	45028970	109049281	71865979	25	6408											
NUDCD2	134492	hgsc.bcm.edu;ucsc.edu	37	5	162881024	162881024	+	Silent	SNP	G	G	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr5:162881024G>T	ENST00000302764.4	-	4	512	c.423C>A	c.(421-423)atC>atA	p.I141I	NUDCD2_ENST00000519395.1_5'Flank|NUDCD2_ENST00000517501.1_Silent_p.I116I	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	141						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		AGTTTCCTGAGATTTCTGCTC	0.338																																																0													99	89	93					5																	162881024		2203	4300	6503	SO:0001819	synonymous_variant	134492			BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.423C>A	5.37:g.162881024G>T			B2R4V0	Silent	SNP	ENST00000302764.4	37	CCDS4361.1																																																																																				0.338	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		T	162881024	G	T	162881024	2	4	98	1	0	0	0	0	0	0	0	1	10725	932	33	4		4	NUDCD2	5	162881024	Silent	SNP	G	TCGA-AK-3434-01A-02D-1361-10	53831743	162881024	18034236	26	6409											
ADAMTS2	9509	hgsc.bcm.edu	37	5	178559878	178559878	+	Silent	SNP	G	G	A	rs200210415		TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr5:178559878G>A	ENST00000251582.7	-	14	2210	c.2109C>T	c.(2107-2109)atC>atT	p.I703I		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	703	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCTGGAGCCGATCACACCGT	0.577																																																0								G		0,4406		0,0,2203	154	95	115		2109	-3.2	0.9	5		115	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADAMTS2	NM_014244.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		703/1212	178559878	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2109C>T	5.37:g.178559878G>A				Silent	SNP	ENST00000251582.7	37	CCDS4444.1																																																																																				0.577	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178559878	G	A	178559878	2	1	98	1	0	0	0	0	0	0	0	1	265	1048	37	1		1	ADAMTS2	5	178559878	Silent	SNP	G	TCGA-AK-3434-01A-02D-1361-10	15678854	178559878	2355382	27	6410											
RASGEF1C	255426	hgsc.bcm.edu	37	5	179555487	179555487	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr5:179555487C>T	ENST00000393371.2	-	4	858	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.A188T|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.A37T			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	188					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGATGGAGGCTGGTGGCTTG	0.642																																																0													112	95	101					5																	179555487		2203	4300	6503	SO:0001583	missense	255426			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.562G>A	5.37:g.179555487C>T	ENSP00000377037:p.Ala188Thr		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827001	0.50739	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.28895	1.59;1.59;1.59	3.92	2.96	0.34315	Ras guanine nucleotide exchange factor, domain (1);	0.136088	0.34025	N	0.004334	T	0.15435	0.0372	N	0.14661	0.345	0.29568	N	0.850134	B	0.11235	0.004	B	0.10450	0.005	T	0.10613	-1.0622	10	0.19147	T	0.46	.	8.8992	0.35484	0.0:0.7705:0.2295:0.0	.	188	Q8N431	RGF1C_HUMAN	T	188;188;37	ENSP00000354963:A188T;ENSP00000377037:A188T;ENSP00000429114:A37T	ENSP00000354963:A188T	A	-	1	0	RASGEF1C	179488093	0.773000	0.28580	0.919000	0.36401	0.921000	0.55340	1.011000	0.29911	2.196000	0.70406	0.491000	0.48974	GCC		0.642	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		T	179555487	C	T	179555487	3	4	98	1	0	0	0	0	1	0	0	0	13077	797	28	2	878	2	RASGEF1C	5	179555487	Missense_Mutation	SNP	C	TCGA-AK-3434-01A-02D-1361-10	995609	179555487	1359773	28	6411											
RPP21	79897	hgsc.bcm.edu	37	6	30314294	30314294	+	Silent	SNP	C	C	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr6:30314294C>T	ENST00000442966.2	+	4	340	c.327C>T	c.(325-327)ctC>ctT	p.L109L	RPP21_ENST00000428040.2_Silent_p.L132L|RPP21_ENST00000436442.2_Silent_p.L109L|RPP21_ENST00000433076.2_Silent_p.L117L|TRIM39-RPP21_ENST00000513556.1_Silent_p.L370L			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	109					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)	p.L109L(1)		endometrium(2)|ovary(1)|prostate(1)	4						GGCATTTACTCTGGGGAGACA	0.597																																																1	Substitution - coding silent(1)	ovary(1)											58	55	56					6																	30314294		2203	4300	6503	SO:0001819	synonymous_variant	79897			AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"chromosome 6 open reading frame 135", "ribonuclease P 21kDa subunit"	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.327C>T	6.37:g.30314294C>T			A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Silent	SNP	ENST00000442966.2	37	CCDS4679.1																																																																																				0.597	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		T	30314294	C	T	30314294	2	4	98	1	0	0	0	0	0	0	0	1	13616	900	32	2		2	RPP21	6	30314294	Silent	SNP	C	TCGA-AK-3434-01A-02D-1361-10		30314294	140800773	29	6412											
TDRD6	221400	hgsc.bcm.edu	37	6	46659688	46659688	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr6:46659688A>C	ENST00000316081.6	+	1	3823	c.3823A>C	c.(3823-3825)Act>Cct	p.T1275P	TDRD6_ENST00000544460.1_Missense_Mutation_p.T1275P	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1275					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGTAGAAGCTACTCTTTCAGA	0.358																																																0													41	47	45					6																	46659688		2201	4296	6497	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3823A>C	6.37:g.46659688A>C	ENSP00000346065:p.Thr1275Pro		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	1.989	-0.432144	0.04669	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15487	2.42;2.42	5.01	-3.82	0.04281	.	1.355130	0.04368	N	0.358597	T	0.05135	0.0137	L	0.40543	1.245	0.09310	N	1	P;P	0.47106	0.89;0.824	P;B	0.46796	0.527;0.327	T	0.14924	-1.0455	10	0.27082	T	0.32	1.1067	1.8385	0.03144	0.3946:0.1379:0.3334:0.1341	.	1275;1275	F5H5M3;O60522	.;TDRD6_HUMAN	P	1275	ENSP00000443299:T1275P;ENSP00000346065:T1275P	ENSP00000346065:T1275P	T	+	1	0	TDRD6	46767647	0.000000	0.05858	0.000000	0.03702	0.306000	0.27790	-0.505000	0.06367	-0.750000	0.04740	-0.316000	0.08728	ACT		0.358	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		C	46659688	A	C	46659688	3	2	98	1	0	0	0	0	1	0	0	0	15739	391	14	5	3825	5	TDRD6	6	46659688	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	16345394	46659688	124455379	30	6413											
SFRS18	25957	hgsc.bcm.edu	37	6	99860572	99860572	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr6:99860572T>A	ENST00000369239.5	-	4	336	c.132A>T	c.(130-132)caA>caT	p.Q44H	PNISR_ENST00000466057.1_5'UTR|PNISR_ENST00000438806.1_Missense_Mutation_p.Q44H	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	44	Gln-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AAGCTTCTCTTTGGGCAATCC	0.428																																																0													139	125	129					6																	99860572		2203	4300	6503	SO:0001583	missense	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.132A>T	6.37:g.99860572T>A	ENSP00000358242:p.Gln44His		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002736	0.54254	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.49139	0.79;0.79	5.82	2.2	0.27929	.	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	L	0.29908	0.895	0.51482	D	0.999926	D;D	0.69078	0.988;0.997	D;D	0.81914	0.977;0.995	T	0.36286	-0.9754	10	0.59425	D	0.04	.	8.2788	0.31887	0.0:0.3393:0.0:0.6606	.	44;44	E1P5D4;Q8TF01	.;PNISR_HUMAN	H	44	ENSP00000358242:Q44H;ENSP00000387997:Q44H	ENSP00000358242:Q44H	Q	-	3	2	PNISR	99967293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.128000	0.31369	0.485000	0.27652	-0.256000	0.11100	CAA		0.428	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		A	99860572	T	A	99860572	3	1	98	1	0	0	0	0	1	0	0	0	14180	1838	64	5	2321	5	SFRS18	6	99860572	Missense_Mutation	SNP	T	TCGA-AK-3434-01A-02D-1361-10	53200884	99860572	71254495	31	6414											
SMPD2	6610	hgsc.bcm.edu	37	6	109764751	109764751	+	Silent	SNP	G	G	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr6:109764751G>T	ENST00000258052.3	+	10	1274	c.915G>T	c.(913-915)gtG>gtT	p.V305V	PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	305					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TGATGTGTGTGCTAAAGGAGG	0.622																																																0													45	45	45					6																	109764751		2203	4300	6503	SO:0001819	synonymous_variant	6610			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.915G>T	6.37:g.109764751G>T			Q5TED1|Q9BWR3	Silent	SNP	ENST00000258052.3	37	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.313586	0.01331	.	.	ENSG00000135587	ENST00000458487	.	.	.	5.95	3.2	0.36748	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27640	-1.0068	4	.	.	.	-11.4744	6.4333	0.21809	0.1605:0.1492:0.6903:0.0	.	.	.	.	F	202	.	.	C	+	2	0	SMPD2	109871444	0.999000	0.42202	0.489000	0.27452	0.044000	0.14063	1.347000	0.33975	0.407000	0.25591	-0.140000	0.14226	TGC		0.622	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			T	109764751	G	T	109764751	2	4	98	1	0	0	0	0	0	0	0	1	14811	1306	46	4		4	SMPD2	6	109764751	Silent	SNP	G	TCGA-AK-3434-01A-02D-1361-10	9904179	109764751	61350316	32	6415											
LAMA2	3908	hgsc.bcm.edu	37	6	129796548	129796548	+	Splice_Site	SNP	T	T	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr6:129796548T>C	ENST00000421865.2	+	53	7500		c.e53+2			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAAGCAAGGTAAAATTTAAA	0.323																																																0													66	65	65					6																	129796548		2203	4299	6502	SO:0001630	splice_region_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7451+2T>C	6.37:g.129796548T>C			Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370283	0.82573	.	.	ENSG00000196569	ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5144	0.61533	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129838241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.276000	0.58933	2.217000	0.71921	0.528000	0.53228	.		0.323	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	C	129796548	T	C	129796548	5	2	98	1	0	0	0	0	0	0	1	0	8608	1652	57	3	7663	3	LAMA2	6	129796548	Splice_Site	SNP	T	TCGA-AK-3434-01A-02D-1361-10	20031797	129796548	41318519	33	6416											
ECT2L	345930	hgsc.bcm.edu;ucsc.edu	37	6	139222225	139222225	+	Missense_Mutation	SNP	G	G	A	rs371621945		TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr6:139222225G>A	ENST00000423192.1	+	20	2716	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	ECT2L_ENST00000367682.2_Missense_Mutation_p.R852Q|ECT2L_ENST00000541398.1_Missense_Mutation_p.R706Q			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	852							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R852Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCTTCATCGGTTACTCATA	0.398			"N, Splice, Mis"		ETP ALL																																		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	1	Substitution - Missense(1)	endometrium(1)											160	147	151					6																	139222225		1846	4110	5956	SO:0001583	missense	345930				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2555G>A	6.37:g.139222225G>A	ENSP00000387388:p.Arg852Gln		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	7.133	0.580284	0.13686	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.76448	-1.02;-1.02;-1.02	5.5	3.7	0.42460	Pleckstrin homology-type (1);	0.142496	0.25324	U	0.031487	T	0.52741	0.1753	M	0.72118	2.19	0.09310	N	1	B;B	0.28584	0.216;0.079	B;B	0.15870	0.014;0.006	T	0.39078	-0.9631	10	0.19147	T	0.46	-1.4599	8.1268	0.31003	0.2503:0.0:0.7497:0.0	.	706;852	F5H7S9;Q008S8	.;ECT2L_HUMAN	Q	852;852;706	ENSP00000387388:R852Q;ENSP00000356655:R852Q;ENSP00000442307:R706Q	ENSP00000356655:R852Q	R	+	2	0	ECT2L	139263918	0.150000	0.22732	0.042000	0.18584	0.056000	0.15407	1.917000	0.39996	1.325000	0.45301	0.585000	0.79938	CGG		0.398	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		A	139222225	G	A	139222225	3	1	98	1	0	0	0	0	1	0	0	0	4904	1116	39	1	2629	1	ECT2L	6	139222225	Missense_Mutation	SNP	G	TCGA-AK-3434-01A-02D-1361-10	9425677	139222225	31892842	34	6417											
MLLT4	4301	hgsc.bcm.edu	37	6	168271097	168271097	+	Silent	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr6:168271097A>G	ENST00000447894.2	+	3	333	c.333A>G	c.(331-333)ctA>ctG	p.L111L	MLLT4_ENST00000392108.3_Silent_p.L111L|MLLT4_ENST00000366806.2_Silent_p.L111L|MLLT4_ENST00000392112.1_Silent_p.L111L|MLLT4_ENST00000400822.3_Silent_p.L111L|MLLT4_ENST00000351017.4_Silent_p.L111L|MLLT4_ENST00000344191.4_Silent_p.L111L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	111	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAAACCTCTAGTTGTACAAC	0.348			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													204	224	217					6																	168271097		2203	4296	6499	SO:0001819	synonymous_variant	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.333A>G	6.37:g.168271097A>G			O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37																																																																																					0.348	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		G	168271097	A	G	168271097	2	3	98	1	0	0	0	0	0	0	0	1	9631	407	15	3		3	MLLT4	6	168271097	Silent	SNP	A	TCGA-AK-3434-01A-02D-1361-10	29048872	168271097	2843970	35	6418											
MCPH1	79648	hgsc.bcm.edu	37	8	6312675	6312675	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr8:6312675A>G	ENST00000344683.5	+	9	1913	c.1837A>G	c.(1837-1839)Aga>Gga	p.R613G		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	613					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TGTTAAAAATAGACCAACAAG	0.353																																					Colon(95;1448 1467 8277 34473 35819)											0													133	127	129					8																	6312675		1845	4088	5933	SO:0001583	missense	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1837A>G	8.37:g.6312675A>G	ENSP00000342924:p.Arg613Gly		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.892258	0.00060	.	.	ENSG00000147316	ENST00000344683	T	0.03745	3.82	5.61	2.48	0.30137	.	0.742409	0.12316	N	0.479760	T	0.01489	0.0048	N	0.02802	-0.49	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.48210	-0.9055	10	0.07644	T	0.81	-10.8508	5.5039	0.16844	0.2039:0.1566:0.6395:0.0	.	613	Q8NEM0	MCPH1_HUMAN	G	613	ENSP00000342924:R613G	ENSP00000342924:R613G	R	+	1	2	MCPH1	6300083	0.595000	0.26857	0.005000	0.12908	0.001000	0.01503	1.031000	0.30165	0.546000	0.28920	-1.123000	0.02005	AGA		0.353	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		G	6312675	A	G	6312675	3	3	98	1	0	0	0	0	1	0	0	0	9400	412	15	3	1879	3	MCPH1	8	6312675	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10		6312675	140051347	36	6419											
ZHX2	22882	hgsc.bcm.edu	37	8	123964182	123964182	+	Silent	SNP	T	T	A			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr8:123964182T>A	ENST00000314393.4	+	3	1267	c.432T>A	c.(430-432)atT>atA	p.I144I		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	144					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAAGTTAATTAAACGCAATA	0.478																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)											0													93	90	91					8																	123964182		2203	4300	6503	SO:0001819	synonymous_variant	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.432T>A	8.37:g.123964182T>A				Silent	SNP	ENST00000314393.4	37	CCDS6336.1																																																																																				0.478	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		A	123964182	T	A	123964182	2	1	98	1	0	0	0	0	0	0	0	1	17681	1742	61	5		5	ZHX2	8	123964182	Silent	SNP	T	TCGA-AK-3434-01A-02D-1361-10	117651507	123964182	22399840	37	6420											
PCDH15	65217	hgsc.bcm.edu	37	10	55849761	55849761	+	Silent	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr10:55849761A>G	ENST00000320301.6	-	16	2374	c.1980T>C	c.(1978-1980)gtT>gtC	p.V660V	PCDH15_ENST00000395445.1_Silent_p.V667V|PCDH15_ENST00000361849.3_Silent_p.V660V|PCDH15_ENST00000373965.2_Silent_p.V667V|PCDH15_ENST00000373955.1_Silent_p.V660V|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V660V|PCDH15_ENST00000395432.2_Silent_p.V623V|PCDH15_ENST00000409834.1_Silent_p.V271V|PCDH15_ENST00000395433.1_Silent_p.V638V|PCDH15_ENST00000395446.1_Silent_p.V660V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.V665V|PCDH15_ENST00000373957.3_Silent_p.V638V|PCDH15_ENST00000395438.1_Silent_p.V660V|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	660	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAGATTAAAAACTCTCTGAG	0.338										HNSCC(58;0.16)																																						0													62	64	63					10																	55849761		2203	4297	6500	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1980T>C	10.37:g.55849761A>G			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.338	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		G	55849761	A	G	55849761	2	3	98	1	0	0	0	0	0	0	0	1	11513	1	1	3		3	PCDH15	10	55849761	Silent	SNP	A	TCGA-AK-3434-01A-02D-1361-10		55849761	79684986	38	6421											
RBP4	5950	hgsc.bcm.edu	37	10	95353602	95353602	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr10:95353602C>G	ENST00000371467.1	-	5	865	c.546G>C	c.(544-546)caG>caC	p.Q182H	FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371469.2_Missense_Mutation_p.Q180H|RBP4_ENST00000371464.3_Missense_Mutation_p.Q182H			P02753	RET4_HUMAN	retinol binding protein 4, plasma	182					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	TCAGCCTGTACTGCCTGGCCA	0.612																																					Pancreas(5;160 256 1117 46697 50185)											0													89	88	89					10																	95353602		2203	4300	6503	SO:0001583	missense	5950			BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"Lipocalins"	9922	protein-coding gene	gene with protein product		180250	"retinol-binding protein 4, plasma"				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.546G>C	10.37:g.95353602C>G	ENSP00000360522:p.Gln182His		D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Missense_Mutation	SNP	ENST00000371467.1	37	CCDS31249.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083314	0.76642	.	.	ENSG00000138207	ENST00000371464;ENST00000371469;ENST00000371467;ENST00000371463	D;D	0.82893	-1.66;-1.66	5.95	5.04	0.67666	Calycin-like (1);Calycin (1);	0.092500	0.64402	D	0.000001	D	0.84266	0.5434	L	0.40543	1.245	0.42745	D	0.993759	D	0.65815	0.995	P	0.58873	0.847	D	0.84516	0.0625	10	0.56958	D	0.05	-23.3902	11.7296	0.51728	0.0:0.8689:0.0:0.1311	.	182	P02753	RET4_HUMAN	H	182;180;182;180	ENSP00000360519:Q182H;ENSP00000360522:Q182H	ENSP00000360518:Q180H	Q	-	3	2	RBP4	95343592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.149000	0.50655	2.811000	0.96726	0.655000	0.94253	CAG		0.612	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	NM_006744		G	95353602	C	G	95353602	3	3	98	1	0	0	0	0	1	0	0	0	13164	564	20	4	67	4	RBP4	10	95353602	Missense_Mutation	SNP	C	TCGA-AK-3434-01A-02D-1361-10	39503841	95353602	40181145	39	6422											
MUC2	4583	hgsc.bcm.edu	37	11	1092238	1092238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr11:1092238C>T	ENST00000441003.2	+	30	4084	c.4057C>T	c.(4057-4059)Cag>Tag	p.Q1353*	MUC2_ENST00000359061.5_Nonsense_Mutation_p.Q1354*|MUC2_ENST00000361558.6_Nonsense_Mutation_p.Q19*|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1353					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCAGCTAGGCCAGAAGGTGCA	0.527																																																0													129	142	138					11																	1092238		2153	4244	6397	SO:0001587	stop_gained	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4057C>T	11.37:g.1092238C>T	ENSP00000415183:p.Gln1353*		Q14878	Nonsense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	c	22.6	4.308856	0.81247	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000361558	.	.	.	2.87	2.87	0.33458	.	0.650882	0.12293	U	0.481884	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.8167	0.63297	0.0:1.0:0.0:0.0	.	.	.	.	X	1353;1354;19	.	ENSP00000351956:Q1354X	Q	+	1	0	MUC2	1082238	1.000000	0.71417	0.032000	0.17829	0.213000	0.24496	6.900000	0.75687	1.637000	0.50538	0.466000	0.42574	CAG		0.527	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1092238	C	T	1092238	4	4	98	1	0	0	0	0	0	1	0	0	9977	595	21	2	4175	2	MUC2	11	1092238	Nonsense_Mutation	SNP	C	TCGA-AK-3434-01A-02D-1361-10		1092238	133914278	40	6423											
TYR	7299	hgsc.bcm.edu;ucsc.edu	37	11	88911155	88911155	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr11:88911155A>T	ENST00000263321.5	+	1	536	c.34A>T	c.(34-36)Agt>Tgt	p.S12C	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	12					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCTGCTGTGGAGTTTCCAGAC	0.537																																																0													88	88	88					11																	88911155		2201	4299	6500	SO:0001583	missense	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.34A>T	11.37:g.88911155A>T	ENSP00000263321:p.Ser12Cys		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.418925	0.42918	.	.	ENSG00000077498	ENST00000263321	D	0.99158	-5.5	6.07	0.86	0.19042	.	0.824534	0.11922	N	0.516564	D	0.95915	0.8670	N	0.21545	0.675	0.09310	N	0.999997	P	0.46578	0.88	P	0.46076	0.503	D	0.92592	0.6084	9	.	.	.	.	1.2606	0.02001	0.5088:0.1224:0.1328:0.2359	.	12	P14679	TYRO_HUMAN	C	12	ENSP00000263321:S12C	.	S	+	1	0	TYR	88550803	0.598000	0.26882	0.763000	0.31416	0.949000	0.60115	1.354000	0.34056	0.133000	0.18654	0.533000	0.62120	AGT		0.537	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		T	88911155	A	T	88911155	3	4	98	1	0	0	0	0	1	0	0	0	16818	304	11	5	36	5	TYR	11	88911155	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	87818917	88911155	46095361	41	6424											
ALKBH8	91801	hgsc.bcm.edu;ucsc.edu	37	11	107375723	107375723	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr11:107375723G>C	ENST00000428149.2	-	12	1807	c.1656C>G	c.(1654-1656)gaC>gaG	p.D552E	ALKBH8_ENST00000389568.3_Missense_Mutation_p.D552E|ALKBH8_ENST00000417449.2_Missense_Mutation_p.D555E|ALKBH8_ENST00000429370.1_Intron	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	552	Methyltransferase domain.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AAGATGCCGAGTCTCGACTGC	0.468																																																0													158	131	139					11																	107375723		692	1591	2283	SO:0001583	missense	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"Alkylation repair homologs", "RNA binding motif (RRM) containing"	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.1656C>G	11.37:g.107375723G>C	ENSP00000415885:p.Asp552Glu		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	G	6.070	0.381275	0.11466	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	T;T;T	0.42131	0.98;0.98;0.98	5.07	-3.89	0.04193	.	1.003990	0.08014	N	0.990829	T	0.27866	0.0686	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.001;0.004	T	0.28776	-1.0033	10	0.25106	T	0.35	-21.7211	6.5154	0.22244	0.4354:0.2169:0.3477:0.0	.	552;555	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	E	552;552;555	ENSP00000415885:D552E;ENSP00000374219:D552E;ENSP00000397673:D555E	ENSP00000374219:D552E	D	-	3	2	ALKBH8	106880933	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.442000	0.06871	-0.326000	0.08564	0.650000	0.86243	GAC		0.468	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		C	107375723	G	C	107375723	3	2	98	1	0	0	0	0	1	0	0	0	533	1020	36	4	342	4	ALKBH8	11	107375723	Missense_Mutation	SNP	G	TCGA-AK-3434-01A-02D-1361-10	18464568	107375723	27630793	42	6425											
CRTAM	56253	hgsc.bcm.edu;ucsc.edu	37	11	122733210	122733210	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr11:122733210A>G	ENST00000227348.4	+	6	738	c.691A>G	c.(691-693)Aac>Gac	p.N231D	CRTAM_ENST00000533709.1_Missense_Mutation_p.N32D	NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCTGGAGAGAAACTCTCTATC	0.413																																																0													75	72	73					11																	122733210		2202	4299	6501	SO:0001583	missense	56253			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	24313	protein-coding gene	gene with protein product	"class I MHC restricted T cell associated molecule"	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.691A>G	11.37:g.122733210A>G	ENSP00000227348:p.Asn231Asp			Missense_Mutation	SNP	ENST00000227348.4	37	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	A	8.479	0.859244	0.17178	.	.	ENSG00000109943	ENST00000227348;ENST00000533709	T;T	0.54675	0.56;1.51	4.35	4.35	0.52113	.	0.511140	0.22063	N	0.065143	T	0.29976	0.0750	N	0.08118	0	0.09310	N	1	B;B	0.15141	0.012;0.0	B;B	0.09377	0.004;0.0	T	0.11743	-1.0575	10	0.29301	T	0.29	.	10.1007	0.42502	1.0:0.0:0.0:0.0	.	32;231	O95727-2;O95727	.;CRTAM_HUMAN	D	231;32	ENSP00000227348:N231D;ENSP00000433728:N32D	ENSP00000227348:N231D	N	+	1	0	CRTAM	122238420	0.010000	0.17322	0.007000	0.13788	0.042000	0.13812	2.580000	0.46068	1.971000	0.57363	0.533000	0.62120	AAC		0.413	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		G	122733210	A	G	122733210	3	3	98	1	0	0	0	0	1	0	0	0	3899	14	1	3	713	3	CRTAM	11	122733210	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	15357487	122733210	12273306	43	6426											
FAIM2	23017	hgsc.bcm.edu	37	12	50284501	50284501	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr12:50284501G>T	ENST00000320634.3	-	7	584	c.490C>A	c.(490-492)Cat>Aat	p.H164N	FAIM2_ENST00000550890.1_Missense_Mutation_p.H118N	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	164					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CAGGGGAAATGCCTCCTGCAA	0.597																																																0													84	78	80					12																	50284501		2203	4300	6503	SO:0001583	missense	23017			AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 2"	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.490C>A	12.37:g.50284501G>T	ENSP00000321951:p.His164Asn		A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP	ENST00000320634.3	37	CCDS8791.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.51|13.51	2.257910|2.257910	0.39896|0.39896	.|.	.|.	ENSG00000135472|ENSG00000135472	ENST00000552863|ENST00000320634;ENST00000550890;ENST00000550635;ENST00000552669	.|T;T;T	.|0.39406	.|1.08;1.08;1.08	4.8|4.8	2.66|2.66	0.31614|0.31614	.|.	.|0.374602	.|0.32175	.|N	.|0.006471	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.08118|0.08118	0|0	0.30203|0.30203	N|N	0.798412|0.798412	.|B	.|0.24317	.|0.101	.|B	.|0.26094	.|0.066	T|T	0.07673|0.07673	-1.0760|-1.0760	5|10	.|0.41790	.|T	.|0.15	-8.8898|-8.8898	4.7661|4.7661	0.13132|0.13132	0.3288:0.0:0.6712:0.0|0.3288:0.0:0.6712:0.0	.|.	.|164	.|Q9BWQ8	.|FAIM2_HUMAN	E|N	32|164;118;164;122	.|ENSP00000321951:H164N;ENSP00000450132:H118N;ENSP00000446771:H122N	.|ENSP00000321951:H164N	A|H	-|-	2|1	0|0	FAIM2|FAIM2	48570768|48570768	0.640000|0.640000	0.27243|0.27243	0.997000|0.997000	0.53966|0.53966	0.963000|0.963000	0.63663|0.63663	1.103000|1.103000	0.31062|0.31062	1.031000|1.031000	0.39867|0.39867	0.462000|0.462000	0.41574|0.41574	GCA|CAT		0.597	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306		T	50284501	G	T	50284501	3	4	98	1	0	0	0	0	1	0	0	0	5378	1319	46	4	484	4	FAIM2	12	50284501	Missense_Mutation	SNP	G	TCGA-AK-3434-01A-02D-1361-10		50284501	83567394	44	6427											
SLC4A8	9498	hgsc.bcm.edu	37	12	51851247	51851247	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr12:51851247C>G	ENST00000453097.2	+	6	904	c.687C>G	c.(685-687)aaC>aaG	p.N229K	SLC4A8_ENST00000358657.3_Missense_Mutation_p.N256K|SLC4A8_ENST00000394856.1_Missense_Mutation_p.N176K|SLC4A8_ENST00000514353.3_Missense_Mutation_p.N176K|SLC4A8_ENST00000535225.2_Missense_Mutation_p.N176K	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGAAGAGAAACAACCTCATTC	0.418																																																0													166	147	154					12																	51851247		2203	4300	6503	SO:0001583	missense	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.687C>G	12.37:g.51851247C>G	ENSP00000405812:p.Asn229Lys			Missense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	8.228	0.804024	0.16467	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.29	2.05	0.26809	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.432610	0.24922	N	0.034530	T	0.29716	0.0742	N	0.05078	-0.115	0.48040	D	0.999573	B;B;B;B;B;B;B	0.30563	0.285;0.001;0.026;0.002;0.005;0.001;0.082	B;B;B;B;B;B;B	0.31946	0.138;0.007;0.025;0.027;0.016;0.005;0.041	T	0.27191	-1.0081	10	0.02654	T	1	.	3.9372	0.09311	0.0:0.5219:0.2018:0.2763	.	176;256;176;229;229;229;176	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	K	176;256;229;176;229;176;176;176	ENSP00000441520:N176K;ENSP00000351483:N256K;ENSP00000405812:N229K;ENSP00000378325:N176K;ENSP00000442561:N176K	ENSP00000315789:N229K	N	+	3	2	SLC4A8	50137514	0.721000	0.28007	1.000000	0.80357	0.997000	0.91878	0.159000	0.16442	0.607000	0.29982	0.655000	0.94253	AAC		0.418	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		G	51851247	C	G	51851247	3	3	98	1	0	0	0	0	1	0	0	0	14665	477	17	4	709	4	SLC4A8	12	51851247	Missense_Mutation	SNP	C	TCGA-AK-3434-01A-02D-1361-10	1566746	51851247	82000648	45	6428											
STAT2	6773	hgsc.bcm.edu	37	12	56744656	56744656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr12:56744656G>A	ENST00000314128.4	-	11	1074	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	STAT2_ENST00000557235.1_Nonsense_Mutation_p.Q347*|STAT2_ENST00000556539.1_5'Flank|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Nonsense_Mutation_p.Q347*			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	351					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTGCCTTCCTGGAGTCTCACC	0.532																																																0													103	98	100					12																	56744656		2203	4300	6503	SO:0001587	stop_gained	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1051C>T	12.37:g.56744656G>A	ENSP00000315768:p.Gln351*		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Nonsense_Mutation	SNP	ENST00000314128.4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972628	0.92919	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	.	.	.	4.92	4.0	0.46444	.	0.062767	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-16.3467	9.9778	0.41795	0.0:0.1504:0.6942:0.1554	.	.	.	.	X	351;347;347	.	ENSP00000315768:Q351X	Q	-	1	0	STAT2	55030923	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.132000	0.64758	1.150000	0.42419	0.462000	0.41574	CAG		0.532	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		A	56744656	G	A	56744656	4	1	98	1	0	0	0	0	0	1	0	0	15270	1357	47	2	1560	2	STAT2	12	56744656	Nonsense_Mutation	SNP	G	TCGA-AK-3434-01A-02D-1361-10	4893409	56744656	77107239	46	6429											
GOLGA3	2802	hgsc.bcm.edu	37	12	133393164	133393164	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr12:133393164G>C	ENST00000450791.2	-	2	551	c.368C>G	c.(367-369)tCt>tGt	p.S123C	GOLGA3_ENST00000537452.1_Missense_Mutation_p.S123C|GOLGA3_ENST00000545875.1_Missense_Mutation_p.S123C|GOLGA3_ENST00000204726.3_Missense_Mutation_p.S123C|GOLGA3_ENST00000456883.2_Missense_Mutation_p.S123C			Q08378	GOGA3_HUMAN	golgin A3	123	Interaction with GOPC.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAGTCTGAGAGACTGCAAAGC	0.547																																																0													110	93	99					12																	133393164		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.368C>G	12.37:g.133393164G>C	ENSP00000410378:p.Ser123Cys		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875676	0.91664	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.52295	1.16;1.16;1.15;0.67;0.67	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.69717	0.3142	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.70695	-0.4801	10	0.87932	D	0	.	20.0591	0.97667	0.0:0.0:1.0:0.0	.	123;123;123	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	C	123	ENSP00000204726:S123C;ENSP00000410378:S123C;ENSP00000409303:S123C;ENSP00000442143:S123C;ENSP00000442603:S123C	ENSP00000204726:S123C	S	-	2	0	GOLGA3	131903237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.467000	0.97671	2.747000	0.94245	0.462000	0.41574	TCT		0.547	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		C	133393164	G	C	133393164	3	2	98	1	0	0	0	0	1	0	0	0	6556	942	33	4	4354	4	GOLGA3	12	133393164	Missense_Mutation	SNP	G	TCGA-AK-3434-01A-02D-1361-10	76648508	133393164	458731	47	6430											
CCNA1	8900	hgsc.bcm.edu	37	13	37015358	37015358	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr13:37015358A>G	ENST00000255465.4	+	7	1466	c.1202A>G	c.(1201-1203)aAg>aGg	p.K401R	CCNA1_ENST00000418263.1_Missense_Mutation_p.K400R|CCNA1_ENST00000440264.1_Missense_Mutation_p.K357R|CCNA1_ENST00000449823.1_Missense_Mutation_p.K357R			P78396	CCNA1_HUMAN	cyclin A1	401					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ACTGTGAACAAGCACTTTTGG	0.398																																																0													127	113	118					13																	37015358		2203	4300	6503	SO:0001583	missense	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1202A>G	13.37:g.37015358A>G	ENSP00000255465:p.Lys401Arg		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	A	6.796	0.515876	0.12944	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.19	2.45	0.29901	Cyclin, C-terminal (1);Cyclin-like (3);	0.420489	0.28187	N	0.016279	T	0.11067	0.0270	N	0.10945	0.07	0.21290	N	0.99973	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.32640	-0.9899	10	0.13470	T	0.59	.	8.0213	0.30410	0.3203:0.0:0.6797:0.0	.	400;401	P78396-2;P78396	.;CCNA1_HUMAN	R	357;357;400;401	ENSP00000400666:K357R;ENSP00000409873:K357R;ENSP00000396479:K400R;ENSP00000255465:K401R	ENSP00000255465:K401R	K	+	2	0	CCNA1	35913358	0.058000	0.20735	1.000000	0.80357	0.931000	0.56810	0.711000	0.25764	0.664000	0.31047	-0.468000	0.05107	AAG		0.398	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		G	37015358	A	G	37015358	3	3	98	1	0	0	0	0	1	0	0	0	2911	72	3	3	1228	3	CCNA1	13	37015358	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10		37015358	78154520	48	6431											
SYNE2	23224	hgsc.bcm.edu	37	14	64554560	64554560	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr14:64554560C>A	ENST00000344113.4	+	58	11868	c.11656C>A	c.(11656-11658)Cag>Aag	p.Q3886K	SYNE2_ENST00000555002.1_Missense_Mutation_p.Q520K|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q3886K|SYNE2_ENST00000357395.3_Missense_Mutation_p.Q271K|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q271K|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q3919K|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3886					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCACAGATTCAGCGAATGGC	0.358																																																0													58	59	59					14																	64554560		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11656C>A	14.37:g.64554560C>A	ENSP00000341781:p.Gln3886Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155342	0.57259	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.62232	0.42;3.67;0.43;0.04;3.8;3.67	5.36	5.36	0.76844	.	0.000000	0.50627	D	0.000101	T	0.78483	0.4290	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.76494	0.994;0.983;0.983;0.999	P;P;D;D	0.75484	0.879;0.858;0.909;0.986	T	0.76531	-0.2925	10	0.35671	T	0.21	.	18.6869	0.91568	0.0:1.0:0.0:0.0	.	271;3920;3886;3886	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	K	3886;271;3886;3919;3919;520;271	ENSP00000350719:Q3886K;ENSP00000349969:Q271K;ENSP00000341781:Q3886K;ENSP00000452570:Q3919K;ENSP00000450831:Q520K;ENSP00000378249:Q271K	ENSP00000261678:Q3919K	Q	+	1	0	SYNE2	63624313	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.248000	0.65421	2.503000	0.84419	0.591000	0.81541	CAG		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64554560	C	A	64554560	3	1	98	1	0	0	0	0	1	0	0	0	15451	827	29	4	11882	4	SYNE2	14	64554560	Missense_Mutation	SNP	C	TCGA-AK-3434-01A-02D-1361-10		64554560	42794980	49	6432											
CHRNA7	1139	hgsc.bcm.edu	37	15	32449875	32449876	+	Frame_Shift_Del	DEL	TG	TG	-	rs374603734		TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr15:32449875_32449876delTG	ENST00000306901.3	+	6	594_595	c.497_498delTG	c.(496-498)ctgfs	p.L166fs	CHRNA7_ENST00000454250.3_Frame_Shift_Del_p.L195fs|CHRNA7_ENST00000455693.2_5'UTR	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	166					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CACTGCAAACTGAAGTTTGGGT	0.505																																					Esophageal Squamous(193;529 2900 40232 43193)											0									,	3,2221		1,1,1110					,	5	0.8			13	19,4303		2,15,2144	no	frameshift,frameshift	CHRNA7	NM_001190455.1,NM_000746.4	,	3,16,3254	A1A1,A1R,RR		0.4396,0.1349,0.3361	,	,		22,6524				SO:0001589	frameshift_variant	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.497_498delTG	15.37:g.32449875_32449876delTG	ENSP00000303727:p.Leu166fs		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Frame_Shift_Del	DEL	ENST00000306901.3	37	CCDS10027.1																																																																																				0.505	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			-	32449876	TG	-	32449875	7	5	98	1	0	1	0	1	0	0	0	0	3390	1580	55	0	519	0	CHRNA7	15	32449875	Frame_Shift_Del	DEL	TG	TCGA-AK-3434-01A-02D-1361-10		32449875	70081517	50	6433											
FAM82A2	55177	hgsc.bcm.edu	37	15	41037298	41037298	+	Silent	SNP	C	C	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr15:41037298C>T	ENST00000260385.6	-	4	1751	c.684G>A	c.(682-684)gaG>gaA	p.E228E	RMDN3_ENST00000558560.1_Intron|RMDN3_ENST00000338376.3_Silent_p.E228E			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	228					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AACCTCCAGCCTCCAGGGCAC	0.602																																																0													90	80	83					15																	41037298		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.684G>A	15.37:g.41037298C>T			A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Silent	SNP	ENST00000260385.6	37	CCDS10063.1																																																																																				0.602	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		T	41037298	C	T	41037298	2	4	98	1	0	0	0	0	0	0	0	1	5633	680	24	2		2	FAM82A2	15	41037298	Silent	SNP	C	TCGA-AK-3434-01A-02D-1361-10	8587423	41037298	61494094	51	6434											
LCMT2	9836	hgsc.bcm.edu;ucsc.edu	37	15	43621583	43621583	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr15:43621583C>T	ENST00000305641.5	-	1	1220	c.1105G>A	c.(1105-1107)Gtt>Att	p.V369I	ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	369					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CTGAGAATAACGTCTGGGCTC	0.552																																																0													50	50	50					15																	43621583		2201	4299	6500	SO:0001583	missense	9836			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1105G>A	15.37:g.43621583C>T	ENSP00000307214:p.Val369Ile		Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	0.195	-1.050026	0.01981	.	.	ENSG00000168806	ENST00000305641	T	0.73575	-0.76	5.35	-7.91	0.01165	.	1.537050	0.03504	N	0.218544	T	0.51770	0.1694	N	0.11560	0.145	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.40572	-0.9556	10	0.25751	T	0.34	-23.4472	10.4832	0.44706	0.0:0.5635:0.2346:0.2019	.	369	O60294	LCMT2_HUMAN	I	369	ENSP00000307214:V369I	ENSP00000307214:V369I	V	-	1	0	LCMT2	41408875	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-3.095000	0.00607	-1.545000	0.01719	-0.302000	0.09304	GTT		0.552	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		T	43621583	C	T	43621583	3	4	98	1	0	0	0	0	1	0	0	0	8681	536	19	1	959	1	LCMT2	15	43621583	Missense_Mutation	SNP	C	TCGA-AK-3434-01A-02D-1361-10	2584285	43621583	58909809	52	6435											
ZKSCAN2	342357	hgsc.bcm.edu;ucsc.edu	37	16	25264266	25264266	+	Splice_Site	SNP	C	C	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr16:25264266C>T	ENST00000328086.7	-	3	1482		c.e3+1			NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTACAATGTACCTGGGACCCA	0.517																																																0													142	141	141					16																	25264266		2197	4300	6497	SO:0001630	splice_region_variant	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.678+1G>A	16.37:g.25264266C>T			A1L3B4|Q6ZN77	Splice_Site	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446852	0.43429	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9778	0.80083	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZKSCAN2	25171767	1.000000	0.71417	0.998000	0.56505	0.304000	0.27724	3.473000	0.53122	2.840000	0.97914	0.655000	0.94253	.		0.517	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	Intron	T	25264266	C	T	25264266	5	4	98	1	0	0	0	0	0	0	1	0	17692	521	18	2	2244	2	ZKSCAN2	16	25264266	Splice_Site	SNP	C	TCGA-AK-3434-01A-02D-1361-10		25264266	65090487	53	6436											
CNTNAP4	85445	hgsc.bcm.edu;ucsc.edu	37	16	76482716	76482716	+	Missense_Mutation	SNP	C	C	A	rs139295295	byFrequency	TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr16:76482716C>A	ENST00000476707.1	+	5	943	c.804C>A	c.(802-804)agC>agA	p.S268R	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S240R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S264R|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S264R|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	265	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCCTGGGCAGCCTGCTAGATG	0.483																																																0													118	93	101					16																	76482716		2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.804C>A	16.37:g.76482716C>A	ENSP00000417628:p.Ser268Arg		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	C	18.43	3.621719	0.66787	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.34	2.36	0.29203	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.277746	0.25458	N	0.030529	D	0.86393	0.5922	.	.	.	0.43965	D	0.996646	D;D;D;D	0.89917	1.0;0.993;1.0;1.0	D;D;D;D	0.91635	0.999;0.959;0.999;0.998	D	0.85404	0.1133	9	0.66056	D	0.02	.	10.152	0.42801	0.0:0.7221:0.0:0.2779	.	240;268;240;265	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	R	264;264;240;268	ENSP00000306893:S264R;ENSP00000439733:S264R;ENSP00000418741:S240R;ENSP00000417628:S268R	ENSP00000306893:S264R	S	+	3	2	CNTNAP4	75040217	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.131000	0.42074	0.395000	0.25257	0.655000	0.94253	AGC		0.483	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		A	76482716	C	A	76482716	3	1	98	1	0	0	0	0	1	0	0	0	3651	738	26	4	830	4	CNTNAP4	16	76482716	Missense_Mutation	SNP	C	TCGA-AK-3434-01A-02D-1361-10	51218450	76482716	13872037	54	6437											
C16orf55	124045	hgsc.bcm.edu	37	16	89735835	89735835	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr16:89735835A>C	ENST00000301031.4	+	3	350	c.350A>C	c.(349-351)gAc>gCc	p.D117A	SPATA33_ENST00000579310.1_Missense_Mutation_p.D118A	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	117						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAGCCGGAGGACTGGGGCCCC	0.557																																																0													62	70	68					16																	89735835		2198	4300	6498	SO:0001583	missense	124045			AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"chromosome 16 open reading frame 55"	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.350A>C	16.37:g.89735835A>C	ENSP00000301031:p.Asp117Ala		A8WFL2|B4DZN8	Missense_Mutation	SNP	ENST00000301031.4	37	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	A	9.618	1.132984	0.21041	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.56103	0.48	4.5	2.2	0.27929	.	1.159430	0.06517	N	0.739076	T	0.41003	0.1140	L	0.29908	0.895	0.09310	N	1	B;P	0.37101	0.408;0.582	B;B	0.37387	0.15;0.248	T	0.35076	-0.9803	10	0.66056	D	0.02	-11.1496	4.7547	0.13077	0.7066:0.1915:0.1019:0.0	.	118;117	B4DZN8;Q96N06	.;CP055_HUMAN	A	117;118	ENSP00000301031:D117A	ENSP00000301031:D117A	D	+	2	0	C16orf55	88263336	0.000000	0.05858	0.001000	0.08648	0.209000	0.24338	0.284000	0.18864	0.211000	0.20683	0.472000	0.43445	GAC		0.557	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269924.2	NM_153025		C	89735835	A	C	89735835	3	2	98	1	0	0	0	0	1	0	0	0	1822	275	10	5	360	5	C16orf55	16	89735835	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	13253119	89735835	618918	55	6438											
VTN	7448	hgsc.bcm.edu;ucsc.edu	37	17	26697201	26697201	+	Silent	SNP	G	G	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr17:26697201G>T	ENST00000226218.4	-	1	642	c.24C>A	c.(22-24)ctC>ctA	p.L8L	CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000457710.3_5'Flank|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'UTR|VTN_ENST00000438614.1_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	8					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GGGCCAGTATGAGAAGGGGTC	0.622																																																0													115	115	115					17																	26697201		2203	4300	6503	SO:0001819	synonymous_variant	7448			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.24C>A	17.37:g.26697201G>T			B2R7G0|P01141|Q9BSH7	Silent	SNP	ENST00000226218.4	37	CCDS11229.1																																																																																				0.622	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		T	26697201	G	T	26697201	2	4	98	1	0	0	0	0	0	0	0	1	17242	1277	45	4		4	VTN	17	26697201	Silent	SNP	G	TCGA-AK-3434-01A-02D-1361-10		26697201	54498009	56	6439											
KCNH4	23415	hgsc.bcm.edu	37	17	40327694	40327694	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr17:40327694G>T	ENST00000264661.3	-	6	1222	c.890C>A	c.(889-891)cCt>cAt	p.P297H	KCNH4_ENST00000607371.1_Missense_Mutation_p.P297H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	297					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AATGGAACGAGGAGCAGAGAT	0.542																																					NSCLC(117;707 1703 2300 21308 31858)											0													225	182	197					17																	40327694		2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.890C>A	17.37:g.40327694G>T	ENSP00000264661:p.Pro297His			Missense_Mutation	SNP	ENST00000264661.3	37	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457601	0.84317	.	.	ENSG00000089558	ENST00000264661	D	0.97138	-4.26	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.40469	N	0.001086	D	0.97807	0.9280	L	0.51914	1.62	0.48975	D	0.999732	D	0.76494	0.999	D	0.70935	0.971	D	0.98528	1.0626	10	0.87932	D	0	.	19.3711	0.94488	0.0:0.0:1.0:0.0	.	297	Q9UQ05	KCNH4_HUMAN	H	297	ENSP00000264661:P297H	ENSP00000264661:P297H	P	-	2	0	KCNH4	37581220	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.381000	0.73163	2.814000	0.96858	0.563000	0.77884	CCT		0.542	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		T	40327694	G	T	40327694	3	4	98	1	0	0	0	0	1	0	0	0	8036	1000	35	4	2207	4	KCNH4	17	40327694	Missense_Mutation	SNP	G	TCGA-AK-3434-01A-02D-1361-10	13630493	40327694	40867516	57	6440											
C1QL1	10882	hgsc.bcm.edu	37	17	43037729	43037729	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr17:43037729C>T	ENST00000253407.3	-	2	626	c.604G>A	c.(604-606)Gcc>Acc	p.A202T		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	202	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				locomotory behavior (GO:0007626)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)				lung(1)|prostate(1)	2		Prostate(33;0.155)				ATAGCACTGGCCCGCACCTGC	0.652																																																0													78	66	70					17																	43037729		2203	4300	6503	SO:0001583	missense	10882			AF410771	CCDS11492.1	17q21	2010-08-18			ENSG00000131094	ENSG00000131094			24182	protein-coding gene	gene with protein product		611586				9878755	Standard	NM_006688		Approved	CRF, C1QRF, C1QTNF14	uc002ihv.3	O75973	OTTHUMG00000162944	ENST00000253407.3:c.604G>A	17.37:g.43037729C>T	ENSP00000253407:p.Ala202Thr			Missense_Mutation	SNP	ENST00000253407.3	37	CCDS11492.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657643	0.88154	.	.	ENSG00000131094	ENST00000253407	T	0.75260	-0.92	4.7	3.73	0.42828	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	L	0.43646	1.37	0.58432	D	0.999997	P	0.41597	0.756	P	0.51016	0.656	T	0.70769	-0.4782	10	0.30854	T	0.27	.	12.0492	0.53498	0.0:0.914:0.0:0.086	.	202	O75973	C1QRF_HUMAN	T	202	ENSP00000253407:A202T	ENSP00000253407:A202T	A	-	1	0	C1QL1	40393255	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.623000	0.83113	1.201000	0.43203	0.555000	0.69702	GCC		0.652	C1QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371119.3	NM_006688		T	43037729	C	T	43037729	3	4	98	1	0	0	0	0	1	0	0	0	1960	739	26	2	176	2	C1QL1	17	43037729	Missense_Mutation	SNP	C	TCGA-AK-3434-01A-02D-1361-10	2710035	43037729	38157481	58	6441											
ABCA8	10351	hgsc.bcm.edu	37	17	66933090	66933090	+	Splice_Site	SNP	A	A	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr17:66933090A>G	ENST00000269080.2	-	4	604		c.e4+1		ABCA8_ENST00000586539.1_Splice_Site|ABCA8_ENST00000430352.2_Splice_Site	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCATAAAATTACCTGTATGGT	0.353																																																0													133	109	117					17																	66933090		2203	4300	6503	SO:0001630	splice_region_variant	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.466+1T>C	17.37:g.66933090A>G			A1L3U3|C9JQE6|Q86WW0	Splice_Site	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	9.952	1.220475	0.22457	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9092	0.47099	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA8	64444685	1.000000	0.71417	0.992000	0.48379	0.110000	0.19582	3.930000	0.56522	2.135000	0.66039	0.533000	0.62120	.		0.353	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	Intron	G	66933090	A	G	66933090	5	3	98	1	0	0	0	0	0	0	1	0	38	405	14	3	4417	3	ABCA8	17	66933090	Splice_Site	SNP	A	TCGA-AK-3434-01A-02D-1361-10	23895361	66933090	14262120	59	6442											
GRIN2C	2905	hgsc.bcm.edu	37	17	72842988	72842988	+	Silent	SNP	G	G	A			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr17:72842988G>A	ENST00000293190.5	-	10	2219	c.2073C>T	c.(2071-2073)aaC>aaT	p.N691N	GRIN2C_ENST00000347612.4_Silent_p.N691N	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	691					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TACTGCGGATGTTCCGCTCCG	0.622																																																0													149	117	128					17																	72842988		2203	4300	6503	SO:0001819	synonymous_variant	2905				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2073C>T	17.37:g.72842988G>A			B2RTT1	Silent	SNP	ENST00000293190.5	37	CCDS32724.1																																																																																				0.622	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			A	72842988	G	A	72842988	2	1	98	1	0	0	0	0	0	0	0	1	6783	1368	48	2		2	GRIN2C	17	72842988	Silent	SNP	G	TCGA-AK-3434-01A-02D-1361-10	5909898	72842988	8352222	60	6443											
MOCOS	55034	hgsc.bcm.edu	37	18	33848514	33848514	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr18:33848514C>G	ENST00000261326.5	+	15	2554	c.2533C>G	c.(2533-2535)Ctg>Gtg	p.L845V		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGGCATGTACCTGATGCATGC	0.368																																																0													269	232	245					18																	33848514		2203	4300	6503	SO:0001583	missense	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2533C>G	18.37:g.33848514C>G	ENSP00000261326:p.Leu845Val			Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206017	0.58234	.	.	ENSG00000075643	ENST00000261326	T	0.36878	1.23	5.74	3.78	0.43462	Molybdenum cofactor sulfurase, C-terminal (2);	0.070225	0.64402	D	0.000015	T	0.51601	0.1684	M	0.64630	1.985	0.26532	N	0.974242	D	0.76494	0.999	D	0.71656	0.974	T	0.41324	-0.9515	10	0.48119	T	0.1	-19.8111	8.7446	0.34578	0.0:0.8112:0.0:0.1888	.	845	Q96EN8	MOCOS_HUMAN	V	845	ENSP00000261326:L845V	ENSP00000261326:L845V	L	+	1	2	MOCOS	32102512	0.999000	0.42202	1.000000	0.80357	0.904000	0.53231	0.482000	0.22276	0.765000	0.33221	0.650000	0.86243	CTG		0.368	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			G	33848514	C	G	33848514	3	3	98	1	0	0	0	0	1	0	0	0	9691	680	24	4	2591	4	MOCOS	18	33848514	Missense_Mutation	SNP	C	TCGA-AK-3434-01A-02D-1361-10		33848514	44228734	61	6444											
KLK10	5655	hgsc.bcm.edu	37	19	51519366	51519366	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr19:51519366C>T	ENST00000309958.3	-	4	534	c.316G>A	c.(316-318)Gga>Aga	p.G106R	KLK10_ENST00000391805.1_Missense_Mutation_p.G106R|CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000358789.3_Missense_Mutation_p.G106R	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G106R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		AGCTGCTCTCCCTGAAGAAGC	0.602																																																1	Substitution - Missense(1)	lung(1)											42	35	37					19																	51519366		2201	4296	6497	SO:0001583	missense	5655			AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"Kallikreins"	6358	protein-coding gene	gene with protein product		602673	"kallikrein 10"	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.316G>A	19.37:g.51519366C>T	ENSP00000311746:p.Gly106Arg		A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	CCDS12817.1	.	.	.	.	.	.	.	.	.	.	c	15.30	2.791381	0.50102	.	.	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.90261	-2.64;-2.64;-2.64	4.67	3.32	0.38043	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.685753	0.11990	N	0.509955	D	0.88897	0.6562	L	0.55990	1.75	0.22240	N	0.999265	B	0.32128	0.357	B	0.39503	0.301	T	0.81716	-0.0806	10	0.87932	D	0	.	7.14	0.25550	0.0:0.8291:0.0:0.1709	.	106	O43240	KLK10_HUMAN	R	106	ENSP00000375681:G106R;ENSP00000311746:G106R;ENSP00000351640:G106R	ENSP00000311746:G106R	G	-	1	0	KLK10	56211178	0.023000	0.18921	0.865000	0.33974	0.990000	0.78478	2.163000	0.42377	0.734000	0.32515	0.655000	0.94253	GGA		0.602	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776		T	51519366	C	T	51519366	3	4	98	1	0	0	0	0	1	0	0	0	8400	632	22	2	526	2	KLK10	19	51519366	Missense_Mutation	SNP	C	TCGA-AK-3434-01A-02D-1361-10		51519366	7609617	62	6445											
SYNJ1	8867	hgsc.bcm.edu;ucsc.edu	37	21	34053894	34053894	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr21:34053894T>G	ENST00000322229.7	-	10	1264	c.1265A>C	c.(1264-1266)cAa>cCa	p.Q422P	SYNJ1_ENST00000382499.2_Missense_Mutation_p.Q461P|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q461P|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q422P|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q422P			O43426	SYNJ1_HUMAN	synaptojanin 1	422	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAAAACTTCTTGAAAGCGAGT	0.383																																																0													116	112	114					21																	34053894		2203	4300	6503	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1265A>C	21.37:g.34053894T>G	ENSP00000322234:p.Gln422Pro		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.793079	0.50102	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.83	3.34	0.38264	Synaptojanin, N-terminal (1);	0.101085	0.64402	D	0.000001	T	0.32315	0.0825	M	0.76170	2.325	0.58432	D	0.999996	P;P;P;B;P	0.37038	0.457;0.459;0.579;0.43;0.467	B;B;B;B;B	0.41299	0.124;0.122;0.353;0.122;0.202	T	0.08764	-1.0706	10	0.36615	T	0.2	.	11.3016	0.49309	0.2423:0.0:0.0:0.7577	.	422;461;422;422;422	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	P	422;422;461;461;422;422	ENSP00000371931:Q422P;ENSP00000349903:Q422P;ENSP00000371939:Q461P;ENSP00000409667:Q461P;ENSP00000322234:Q422P;ENSP00000413649:Q422P	ENSP00000322234:Q422P	Q	-	2	0	SYNJ1	32975765	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.102000	0.64572	1.008000	0.39264	0.477000	0.44152	CAA		0.383	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				G	34053894	T	G	34053894	3	3	98	1	0	0	0	0	1	0	0	0	15457	1812	63	5	3578	5	SYNJ1	21	34053894	Missense_Mutation	SNP	T	TCGA-AK-3434-01A-02D-1361-10		34053894	14076001	63	6446											
SGSM3	57591	hgsc.bcm.edu;ucsc.edu	37	22	40803848	40803848	+	IGR	SNP	G	G	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr22:40803848G>C	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_Splice_Site|SGSM3_ENST00000248929.9_Splice_Site	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCCTGCGAGGTGGGGTCCTT	0.612			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													49	52	51					22																	40803848		2203	4300	6503	SO:0001628	intergenic_variant	27352			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803848G>C			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Splice_Site	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700443	0.48307	.	.	ENSG00000100359	ENST00000248929;ENST00000454798	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8066	0.92040	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGSM3	39133794	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	7.304000	0.78882	2.527000	0.85204	0.561000	0.74099	.		0.612	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		C	40803848	G	C	40803848	1	2	98	0	1	0	0	0	0	0	0	0	14230	1275	44	4		4	SGSM3	22	40803848	IGR	SNP	G	TCGA-AK-3434-01A-02D-1361-10		40803848	10500718	64	6447											
SREBF2	6721	hgsc.bcm.edu	37	22	42269953	42269953	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr22:42269953A>T	ENST00000361204.4	+	5	1185	c.1019A>T	c.(1018-1020)aAa>aTa	p.K340I		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	340	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATCATTGAGAAACGATATCGC	0.483																																																0													105	84	91					22																	42269953		2203	4300	6503	SO:0001583	missense	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1019A>T	22.37:g.42269953A>T	ENSP00000354476:p.Lys340Ile		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	A	35	5.466286	0.96257	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	D	0.98666	-5.06	6.17	6.17	0.99709	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98740	1.0716	10	0.87932	D	0	-27.0642	16.8222	0.85835	1.0:0.0:0.0:0.0	.	340	Q12772	SRBP2_HUMAN	I	340	ENSP00000354476:K340I	ENSP00000354476:K340I	K	+	2	0	SREBF2	40599899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.329000	0.96413	2.371000	0.80710	0.533000	0.62120	AAA		0.483	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		T	42269953	A	T	42269953	3	4	98	1	0	0	0	0	1	0	0	0	15147	14	1	5	1037	5	SREBF2	22	42269953	Missense_Mutation	SNP	A	TCGA-AK-3434-01A-02D-1361-10	1466105	42269953	9034613	65	6448											
TCF20	6942	hgsc.bcm.edu;ucsc.edu	37	22	42609902	42609902	+	Silent	SNP	G	G	T			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chr22:42609902G>T	ENST00000359486.3	-	1	1546	c.1410C>A	c.(1408-1410)gtC>gtA	p.V470V	TCF20_ENST00000335626.4_Silent_p.V470V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACATGTGCTGGACAGTGTTAG	0.483																																																0													113	116	115					22																	42609902		2203	4300	6503	SO:0001819	synonymous_variant	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1410C>A	22.37:g.42609902G>T			A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	CCDS14033.1																																																																																				0.483	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		T	42609902	G	T	42609902	2	4	98	1	0	0	0	0	0	0	0	1	15695	1161	41	4		4	TCF20	22	42609902	Silent	SNP	G	TCGA-AK-3434-01A-02D-1361-10	339949	42609902	8694664	66	6449											
RPGR	6103	hgsc.bcm.edu;ucsc.edu	37	X	38180284	38180284	+	Silent	SNP	T	T	G			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chrX:38180284T>G	ENST00000339363.3	-	4	473	c.306A>C	c.(304-306)tcA>tcC	p.S102S	RPGR_ENST00000338898.3_Silent_p.S102S|RPGR_ENST00000378505.2_Silent_p.S102S|RPGR_ENST00000342811.3_Silent_p.S102S|RPGR_ENST00000318842.7_Silent_p.S102S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Silent_p.S102S			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	102					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTATACCTGTTGACACCAGGG	0.363																																																0													101	90	94					X																	38180284		2202	4300	6502	SO:0001819	synonymous_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.306A>C	X.37:g.38180284T>G			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37																																																																																					0.363	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		G	38180284	T	G	38180284	2	3	98	1	0	0	0	0	0	0	0	1	13554	1799	63	5		5	RPGR	23	38180284	Silent	SNP	T	TCGA-AK-3434-01A-02D-1361-10		38180284	117090276	67	6450											
ALAS2	212	hgsc.bcm.edu	37	X	55051156	55051156	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chrX:55051156T>C	ENST00000330807.5	-	3	436	c.299A>G	c.(298-300)aAg>aGg	p.K100R	ALAS2_ENST00000396198.3_Missense_Mutation_p.K124R|ALAS2_ENST00000335854.4_Missense_Mutation_p.K100R	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	100					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCAACCTGTCTTGAAAGCCTT	0.498																																																0													226	136	167					X																	55051156		2203	4300	6503	SO:0001583	missense	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.299A>G	X.37:g.55051156T>C	ENSP00000332369:p.Lys100Arg		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	CCDS14366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.45|11.45	1.643640|1.643640	0.29246|0.29246	.|.	.|.	ENSG00000158578|ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854|ENST00000455688	D;D;D|.	0.97114|.	-4.1;-4.25;-4.22|.	4.75|4.75	4.75|4.75	0.60458|0.60458	5-aminolevulinate synthase presequence (1);|.	0.271361|.	0.35013|.	N|.	0.003515|.	T|T	0.56543|0.56543	0.1992|0.1992	L|L	0.39898|0.39898	1.24|1.24	0.36505|0.36505	D|D	0.869251|0.869251	B;B;B|.	0.14012|.	0.005;0.003;0.009|.	B;B;B|.	0.15052|.	0.012;0.012;0.012|.	T|T	0.61778|0.61778	-0.6993|-0.6993	10|5	0.21014|.	T|.	0.42|.	-19.1343|-19.1343	12.6519|12.6519	0.56766|0.56766	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	100;124;100|.	A8K6C4;Q5JZF5;P22557|.	.;.;HEM0_HUMAN|.	R|G	100;124;100|52	ENSP00000332369:K100R;ENSP00000379501:K124R;ENSP00000337131:K100R|.	ENSP00000332369:K100R|.	K|R	-|-	2|1	0|2	ALAS2|ALAS2	55067881|55067881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.481000|0.481000	0.33189|0.33189	1.863000|1.863000	0.39459|0.39459	1.693000|1.693000	0.51124|0.51124	0.486000|0.486000	0.48141|0.48141	AAG|AGA		0.498	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		C	55051156	T	C	55051156	3	2	98	1	0	0	0	0	1	0	0	0	485	1609	56	3	1500	3	ALAS2	23	55051156	Missense_Mutation	SNP	T	TCGA-AK-3434-01A-02D-1361-10	16870872	55051156	100219404	68	6451											
CXorf40B	541578	hgsc.bcm.edu;ucsc.edu	37	X	149100904	149100904	+	Missense_Mutation	SNP	G	G	A	rs151337313		TCGA-AK-3434-01A-02D-1361-10	TCGA-AK-3434-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d2b9053e-2461-4bd1-b205-ae2c7b9c5289	d2ac612a-347f-4541-b95d-973e85021530	g.chrX:149100904G>A	ENST00000370406.3	-	5	1163	c.335C>T	c.(334-336)gCa>gTa	p.A112V	CXorf40B_ENST00000462691.1_Missense_Mutation_p.A112V|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000355203.2_Missense_Mutation_p.A112V|CXorf40B_ENST00000370404.1_Missense_Mutation_p.A112V			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	112										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GTTGGTCAGTGCAGCTTGATT	0.473																																																0													230	197	208					X																	149100904		2199	4297	6496	SO:0001583	missense	541578			BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.335C>T	X.37:g.149100904G>A	ENSP00000359434:p.Ala112Val			Missense_Mutation	SNP	ENST00000370406.3	37	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.398133	0.00198	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	3.4	2.21	0.28008	PUA-like domain (1);	0.502090	0.19920	N	0.103115	T	0.02533	0.0077	N	0.00038	-2.52	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37361	-0.9709	9	0.02654	T	1	-4.6711	6.834	0.23925	0.7878:0.0:0.2122:0.0	.	112	Q96DE9	CX04B_HUMAN	V	112	ENSP00000417546:A112V;ENSP00000359434:A112V;ENSP00000347339:A112V;ENSP00000359432:A112V	ENSP00000347339:A112V	A	-	2	0	CXorf40B	148851562	0.135000	0.22499	0.000000	0.03702	0.022000	0.10575	3.706000	0.54830	-0.124000	0.11724	-0.885000	0.02943	GCA		0.473	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		A	149100904	G	A	149100904	3	1	98	1	0	0	0	0	1	0	0	0	4111	1319	46	2	145	2	CXorf40B	23	149100904	Missense_Mutation	SNP	G	TCGA-AK-3434-01A-02D-1361-10	94049748	149100904	6169656	69	6452											
ATAD3C	219293	hgsc.bcm.edu	37	1	1391612	1391612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr1:1391612delC	ENST00000378785.2	+	7	1567	c.572delC	c.(571-573)gccfs	p.A191fs		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	191							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CAGAAACTCGCCCTGCACTCA	0.627																																																0													4	17	15					1																	1391612		374	1409	1783	SO:0001589	frameshift_variant	219293			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.572delC	1.37:g.1391612delC	ENSP00000368062:p.Ala191fs		Q8N1Z5	Frame_Shift_Del	DEL	ENST00000378785.2	37	CCDS44039.1																																																																																				0.627	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		-	1391612	C	-	1391612	7	5	99	1	0	1	0	1	0	0	0	0	1075	739	26	0	598	0	ATAD3C	1	1391612	Frame_Shift_Del	DEL	C	TCGA-AK-3436-01A-02D-1386-10		1391612	247859009	1	6453											
RCC2	55920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17739593	17739593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr1:17739593C>T	ENST00000375436.4	-	10	1476	c.1289G>A	c.(1288-1290)tGg>tAg	p.W430*	RCC2_ENST00000375433.3_Nonsense_Mutation_p.W430*|AC004824.1_ENST00000583469.1_RNA	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	430					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)	p.W430L(1)|p.W430*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CCGGATTCTCCAGCCGCAGAG	0.567																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(1)|kidney(1)											44	42	43					1																	17739593		2203	4300	6503	SO:0001587	stop_gained	55920				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1289G>A	1.37:g.17739593C>T	ENSP00000364585:p.Trp430*		Q8IVL9|Q9BSN6|Q9NPV8	Nonsense_Mutation	SNP	ENST00000375436.4	37	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	40	8.065390	0.98635	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-22.7397	17.7539	0.88444	0.0:1.0:0.0:0.0	.	.	.	.	X	430	.	ENSP00000364582:W430X	W	-	2	0	RCC2	17612180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.615000	0.88500	0.655000	0.94253	TGG		0.567	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		T	17739593	C	T	17739593	4	4	99	1	0	0	0	0	0	1	0	0	13180	595	21	2	295	2	RCC2	1	17739593	Nonsense_Mutation	SNP	C	TCGA-AK-3436-01A-02D-1386-10	16347981	17739593	231511028	2	6454											
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62288675	62288675	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr1:62288675A>G	ENST00000371158.2	+	15	1856	c.1742A>G	c.(1741-1743)cAt>cGt	p.H581R	INADL_ENST00000316485.6_Missense_Mutation_p.H581R	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	581	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.H581R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGGGCACCATTATATTTCT	0.423																																																1	Substitution - Missense(1)	kidney(1)											233	209	217					1																	62288675		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1742A>G	1.37:g.62288675A>G	ENSP00000360200:p.His581Arg		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731767	0.69189	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.26810	1.71;1.71	4.99	4.99	0.66335	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.55970	0.1954	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.995	T	0.63368	-0.6653	10	0.54805	T	0.06	.	14.3646	0.66799	1.0:0.0:0.0:0.0	.	581;581;581	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	R	581	ENSP00000360200:H581R;ENSP00000326199:H581R	ENSP00000255202:H581R	H	+	2	0	INADL	62061263	1.000000	0.71417	0.998000	0.56505	0.763000	0.43281	7.890000	0.87313	1.882000	0.54519	0.459000	0.35465	CAT		0.423	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		G	62288675	A	G	62288675	3	3	99	1	0	0	0	0	1	0	0	0	7733	217	8	3	1796	3	INADL	1	62288675	Missense_Mutation	SNP	A	TCGA-AK-3436-01A-02D-1386-10	44549082	62288675	186961946	3	6455											
ELTD1	64123	broad.mit.edu;ucsc.edu	37	1	79387470	79387470	+	Splice_Site	SNP	A	A	C			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr1:79387470A>C	ENST00000370742.3	-	9	1148	c.1085T>G	c.(1084-1086)gTc>gGc	p.V362G		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	362					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V362G(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCTATCTGTGACCTGAAAAAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											80	74	76					1																	79387470		1882	4105	5987	SO:0001630	splice_region_variant	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1084-1T>G	1.37:g.79387470A>C			B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	0.552	-0.849036	0.02651	.	.	ENSG00000162618	ENST00000370742	T	0.36157	1.27	5.46	-2.36	0.06663	.	0.633699	0.17850	N	0.159882	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.17098	0.017	T	0.40794	-0.9544	9	.	.	.	.	10.6771	0.45792	0.5696:0.0:0.4304:0.0	.	362	Q9HBW9	ELTD1_HUMAN	G	362	ENSP00000359778:V362G	.	V	-	2	0	ELTD1	79160058	0.492000	0.26027	0.054000	0.19295	0.004000	0.04260	0.612000	0.24283	-0.600000	0.05790	-1.055000	0.02315	GTC		0.343	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	Missense_Mutation	C	79387470	A	C	79387470	5	2	99	1	0	0	0	0	0	0	1	0	5086	289	10	5	1015	5	ELTD1	1	79387470	Splice_Site	SNP	A	TCGA-AK-3436-01A-02D-1386-10	17098795	79387470	169863151	4	6456											
PGLYRP3	114771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153271694	153271694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr1:153271694G>A	ENST00000290722.1	-	6	794	c.742C>T	c.(742-744)Cag>Tag	p.Q248*		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	248					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.Q248*(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCATCCTGGCCCACCAGG	0.453																																																1	Substitution - Nonsense(1)	kidney(1)											63	55	58					1																	153271694		2203	4300	6503	SO:0001587	stop_gained	114771			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.742C>T	1.37:g.153271694G>A	ENSP00000290722:p.Gln248*		A1A4U8|Q5SY65	Nonsense_Mutation	SNP	ENST00000290722.1	37	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986374	0.53934	.	.	ENSG00000159527	ENST00000290722	.	.	.	4.59	1.16	0.20824	.	0.521046	0.16689	N	0.203628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-34.8165	13.0754	0.59083	0.0:0.7089:0.2911:0.0	.	.	.	.	X	248	.	ENSP00000290722:Q248X	Q	-	1	0	PGLYRP3	151538318	0.057000	0.20700	0.972000	0.41901	0.411000	0.31082	0.120000	0.15647	0.250000	0.21479	0.313000	0.20887	CAG		0.453	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		A	153271694	G	A	153271694	4	1	99	1	0	0	0	0	0	1	0	0	11797	1357	47	2	291	2	PGLYRP3	1	153271694	Nonsense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10	73884224	153271694	95978927	5	6457											
ASH1L	55870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155449218	155449218	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr1:155449218G>A	ENST00000368346.3	-	3	4082	c.3443C>T	c.(3442-3444)aCt>aTt	p.T1148I	ASH1L_ENST00000392403.3_Missense_Mutation_p.T1148I			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1148					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T1148I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATTGCAAGAGTCTGAATCAT	0.463																																																1	Substitution - Missense(1)	kidney(1)											81	76	78					1																	155449218		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3443C>T	1.37:g.155449218G>A	ENSP00000357330:p.Thr1148Ile		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	G	15.24	2.774526	0.49786	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90504	-2.68;-2.68	5.2	5.2	0.72013	.	0.063358	0.64402	D	0.000009	D	0.91496	0.7315	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	D	0.92698	0.6172	10	0.87932	D	0	.	18.5192	0.90945	0.0:0.0:1.0:0.0	.	1148;1148	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	I	1148	ENSP00000357330:T1148I;ENSP00000376204:T1148I	ENSP00000357330:T1148I	T	-	2	0	ASH1L	153715842	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.021000	0.76425	2.705000	0.92388	0.591000	0.81541	ACT		0.463	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		A	155449218	G	A	155449218	3	1	99	1	0	0	0	0	1	0	0	0	1041	1029	36	2	5555	2	ASH1L	1	155449218	Missense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10	2177524	155449218	93801403	6	6458											
NRXN1	9378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	50149352	50149352	+	Silent	SNP	T	T	A	rs55923848	byFrequency	TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr2:50149352T>A	ENST00000406316.2	-	22	5640	c.4164A>T	c.(4162-4164)ccA>ccT	p.P1388P	NRXN1_ENST00000406859.3_Silent_p.P1388P|NRXN1_ENST00000342183.5_Silent_p.P353P|NRXN1_ENST00000401710.1_Silent_p.P406P|NRXN1_ENST00000402717.3_Silent_p.P1410P|NRXN1_ENST00000404971.1_Silent_p.P1458P|NRXN1_ENST00000401669.2_Silent_p.P1418P|NRXN1_ENST00000405472.3_Silent_p.P1410P	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1388					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.P353P(1)|p.P1459P(1)|p.P1388P(1)|p.P1458P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGCTGAGCCTGGATACGGCT	0.542																																																4	Substitution - coding silent(4)	kidney(4)											54	46	49					2																	50149352		2203	4300	6503	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4164A>T	2.37:g.50149352T>A			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.266|6.266	0.417140|0.417140	0.11870|0.11870	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000412315|ENST00000378262	.|.	.|.	.|.	5.95|5.95	0.618|0.618	0.17624|0.17624	.|.	.|.	.|.	.|.	.|.	T|T	0.42154|0.42154	0.1190|0.1190	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24261|0.24261	-1.0165|-1.0165	4|4	.|.	.|.	.|.	.|.	1.4043|1.4043	0.02277|0.02277	0.4946:0.1907:0.1272:0.1875|0.4946:0.1907:0.1272:0.1875	.|.	.|.	.|.	.|.	L|W	121|55	.|.	.|.	Q|R	-|-	2|1	0|2	NRXN1|NRXN1	50002856|50002856	0.765000|0.765000	0.28485|0.28485	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	-0.139000|-0.139000	0.10358|0.10358	0.112000|0.112000	0.17975|0.17975	0.460000|0.460000	0.39030|0.39030	CAG|AGG		0.542	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			A	50149352	T	A	50149352	2	1	99	1	0	0	0	0	0	0	0	1	10667	1567	55	5		5	NRXN1	2	50149352	Silent	SNP	T	TCGA-AK-3436-01A-02D-1386-10		50149352	193050021	7	6459											
SNRNP27	11017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	70122252	70122252	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr2:70122252C>T	ENST00000244227.3	+	2	486	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W	SNRNP27_ENST00000409116.1_Missense_Mutation_p.R21W	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	21	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.R21W(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GTCCACATCCCGGGAGAGAGA	0.562																																																1	Substitution - Missense(1)	kidney(1)											91	103	99					2																	70122252		2203	4300	6503	SO:0001583	missense	11017			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"nucleic acid binding protein RY 1"					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.61C>T	2.37:g.70122252C>T	ENSP00000244227:p.Arg21Trp		Q15410	Missense_Mutation	SNP	ENST00000244227.3	37	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	c	15.09	2.730819	0.48939	.	.	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.55234	0.53;0.53	4.22	1.09	0.20402	Domain of unknown function DUF1777 (1);	0.058863	0.64402	D	0.000003	T	0.65471	0.2694	M	0.81802	2.56	0.58432	D	0.999997	D;D	0.69078	0.997;0.983	P;B	0.57720	0.826;0.381	T	0.69716	-0.5070	10	0.66056	D	0.02	.	11.1329	0.48358	0.464:0.5359:0.0:0.0	.	21;21	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	W	21	ENSP00000244227:R21W;ENSP00000386608:R21W	ENSP00000244227:R21W	R	+	1	2	SNRNP27	69975756	0.863000	0.29885	0.964000	0.40570	0.969000	0.65631	1.526000	0.35964	0.505000	0.28104	-0.358000	0.07595	CGG		0.562	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		T	70122252	C	T	70122252	3	4	99	1	0	0	0	0	1	0	0	0	14860	643	23	1	67	1	SNRNP27	2	70122252	Missense_Mutation	SNP	C	TCGA-AK-3436-01A-02D-1386-10	19972900	70122252	173077121	8	6460											
STAMBP	10617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74087228	74087228	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr2:74087228T>C	ENST00000394070.2	+	9	1671	c.1168T>C	c.(1168-1170)Tgt>Cgt	p.C390R	STAMBP_ENST00000339566.3_Missense_Mutation_p.C390R|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_Missense_Mutation_p.C390R|STAMBP_ENST00000409707.1_Missense_Mutation_p.C390R	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	390					JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)	p.C390R(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GATTTCTTCCTGTCGCCAGAA	0.438																																																1	Substitution - Missense(1)	kidney(1)											102	91	95					2																	74087228		2203	4300	6503	SO:0001583	missense	10617			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.1168T>C	2.37:g.74087228T>C	ENSP00000377633:p.Cys390Arg		B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417631	0.83449	.	.	ENSG00000124356	ENST00000339566;ENST00000409707;ENST00000394073;ENST00000394070	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.88450	0.3048	10	0.87932	D	0	-21.9625	14.8849	0.70560	0.0:0.0:0.0:1.0	.	390	O95630	STABP_HUMAN	R	390	ENSP00000344742:C390R;ENSP00000386548:C390R;ENSP00000377636:C390R;ENSP00000377633:C390R	ENSP00000344742:C390R	C	+	1	0	STAMBP	73940736	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.756000	0.85195	2.153000	0.67306	0.533000	0.62120	TGT		0.438	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		C	74087228	T	C	74087228	3	2	99	1	0	0	0	0	1	0	0	0	15255	1580	55	3	1198	3	STAMBP	2	74087228	Missense_Mutation	SNP	T	TCGA-AK-3436-01A-02D-1386-10	3964976	74087228	169112145	9	6461											
SLC9A2	6549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	103281704	103281704	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr2:103281704C>G	ENST00000233969.2	+	3	1041	c.899C>G	c.(898-900)aCt>aGt	p.T300S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	300					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.T300S(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCATTTACTACTCGATTCACC	0.453																																																1	Substitution - Missense(1)	kidney(1)											223	201	208					2																	103281704		2203	4300	6503	SO:0001583	missense	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.899C>G	2.37:g.103281704C>G	ENSP00000233969:p.Thr300Ser		B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761324	0.69763	.	.	ENSG00000115616	ENST00000233969	T	0.15372	2.43	5.66	5.66	0.87406	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00749	-1.1582	10	0.34782	T	0.22	.	20.1225	0.97967	0.0:1.0:0.0:0.0	.	300	Q9UBY0	SL9A2_HUMAN	S	300	ENSP00000233969:T300S	ENSP00000233969:T300S	T	+	2	0	SLC9A2	102648136	1.000000	0.71417	0.364000	0.25888	0.988000	0.76386	7.758000	0.85224	2.831000	0.97527	0.650000	0.86243	ACT		0.453	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			G	103281704	C	G	103281704	3	3	99	1	0	0	0	0	1	0	0	0	14718	565	20	4	909	4	SLC9A2	2	103281704	Missense_Mutation	SNP	C	TCGA-AK-3436-01A-02D-1386-10	29194476	103281704	139917669	10	6462											
UBR3	130507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170885902	170885902	+	Silent	SNP	T	T	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr2:170885902T>A	ENST00000272793.5	+	31	4550	c.4500T>A	c.(4498-4500)atT>atA	p.I1500I	UBR3_ENST00000418381.1_Silent_p.I1500I|UBR3_ENST00000392631.1_Silent_p.I321I|UBR3_ENST00000465630.1_3'UTR			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1500					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I353I(1)|p.I1500I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTTATAGCATTGACTCTGAGT	0.338																																																2	Substitution - coding silent(2)	kidney(2)											92	88	90					2																	170885902		2203	4300	6503	SO:0001819	synonymous_variant	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4500T>A	2.37:g.170885902T>A			B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	T	10.31	1.314265	0.23908	.	.	ENSG00000144357	ENST00000392632	.	.	.	4.55	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2861	0.37758	0.0:0.0891:0.0:0.9109	.	.	.	.	X	562	.	.	L	+	2	0	UBR3	170594148	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.342000	0.43992	0.690000	0.31570	-0.376000	0.06991	TTG		0.338	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		A	170885902	T	A	170885902	2	1	99	1	0	0	0	0	0	0	0	1	16908	1800	63	5		5	UBR3	2	170885902	Silent	SNP	T	TCGA-AK-3436-01A-02D-1386-10	67604198	170885902	72313471	11	6463											
PDE11A	50940	hgsc.bcm.edu	37	2	178936994	178936994	+	Frame_Shift_Del	DEL	A	A	-	rs529789124	byFrequency	TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr2:178936994delA	ENST00000286063.6	-	1	488	c.171delT	c.(169-171)ggtfs	p.G57fs	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	57					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	AGCTGCTGGTACCAGCCAAAG	0.607									Primary Pigmented Nodular Adrenocortical Disease, Familial				A|A|-|deletion	47	0.00938498	0.0	0.0	5008	,	,		17636	0.0		0.0	False		,,,				2504	0.0481															0			GRCh37	CD063588	PDE11A	D			,	1,4265		0,1,2132	43	33	36		,	-1.9	0	2		36	5,8249		0,5,4122	no	frameshift,intron	PDE11A	NM_016953.3,NM_001077197.1	,	0,6,6254	A1A1,A1R,RR		0.0606,0.0234,0.0479	,	,	178936994	6,12514	2203	4300	6503	SO:0001589	frameshift_variant	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.171delT	2.37:g.178936994delA	ENSP00000286063:p.Gly57fs		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Frame_Shift_Del	DEL	ENST00000286063.6	37	CCDS33334.1																																																																																				0.607	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			-	178936994	A	-	178936994	7	5	99	1	0	1	0	1	0	0	0	0	11633	378	14	0	2710	0	PDE11A	2	178936994	Frame_Shift_Del	DEL	A	TCGA-AK-3436-01A-02D-1386-10	8051092	178936994	64262379	12	6464											
AOX1	316	broad.mit.edu;ucsc.edu	37	2	201533423	201533423	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr2:201533423G>T	ENST00000374700.2	+	33	3936	c.3695G>T	c.(3694-3696)gGt>gTt	p.G1232V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1232					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.G1232V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CACACTCGTGGTCCAGACCAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											158	153	154					2																	201533423		2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3695G>T	2.37:g.201533423G>T	ENSP00000363832:p.Gly1232Val		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539233	0.85917	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.46451	0.87;0.87;1.07	5.1	5.1	0.69264	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.051183	0.85682	D	0.000000	T	0.77232	0.4100	H	0.97023	3.925	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.85382	0.1120	10	0.87932	D	0	-28.347	18.7004	0.91618	0.0:0.0:1.0:0.0	.	1232	Q06278	ADO_HUMAN	V	1232;96;72	ENSP00000363832:G1232V;ENSP00000260930:G96V;ENSP00000413326:G72V	ENSP00000260930:G96V	G	+	2	0	AOX1	201241668	1.000000	0.71417	0.975000	0.42487	0.922000	0.55478	9.122000	0.94380	2.664000	0.90586	0.563000	0.77884	GGT		0.428	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		T	201533423	G	T	201533423	3	4	99	1	0	0	0	0	1	0	0	0	729	1261	44	4	3825	4	AOX1	2	201533423	Missense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10	22596429	201533423	41665950	13	6465											
IDH1	3417	broad.mit.edu;ucsc.edu	37	2	209108295	209108295	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr2:209108295T>G	ENST00000415913.1	-	6	935	c.554A>C	c.(553-555)cAa>cCa	p.Q185P	IDH1_ENST00000345146.2_Missense_Mutation_p.Q185P|IDH1_ENST00000446179.1_Missense_Mutation_p.Q185P	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	185					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Q185P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TGACTTATCTTGATTATACAT	0.403			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	1	Substitution - Missense(1)	kidney(1)											95	89	91					2																	209108295		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.554A>C	2.37:g.209108295T>G	ENSP00000390265:p.Gln185Pro		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015156	0.54468	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	T;T;T	0.76316	-1.01;-1.01;-1.01	5.37	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.238024	0.43579	D	0.000541	T	0.50599	0.1625	N	0.01576	-0.805	0.37236	D	0.905882	B	0.29988	0.264	B	0.35039	0.194	T	0.57568	-0.7789	10	0.62326	D	0.03	-15.8597	5.1464	0.14987	0.2825:0.0:0.1268:0.5907	.	185	O75874	IDHC_HUMAN	P	185	ENSP00000260985:Q185P;ENSP00000410513:Q185P;ENSP00000390265:Q185P	ENSP00000260985:Q185P	Q	-	2	0	IDH1	208816540	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.458000	0.53014	2.168000	0.68352	0.397000	0.26171	CAA		0.403	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			G	209108295	T	G	209108295	3	3	99	1	0	0	0	0	1	0	0	0	7496	1812	63	5	710	5	IDH1	2	209108295	Missense_Mutation	SNP	T	TCGA-AK-3436-01A-02D-1386-10	7574872	209108295	34091078	14	6466											
C2orf67	151050	broad.mit.edu;ucsc.edu	37	2	210889826	210889826	+	Splice_Site	SNP	G	G	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr2:210889826G>A	ENST00000281772.9	-	13	2828		c.e13+1		KANSL1L_ENST00000418791.1_Splice_Site	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like							histone acetyltransferase complex (GO:0000123)		p.?(1)									TTTGTAACCTGCCTGCTGTTT	0.423																																																1	Unknown(1)	kidney(1)											122	116	118					2																	210889826		2203	4300	6503	SO:0001630	splice_region_variant	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2564+1C>T	2.37:g.210889826G>A			B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Splice_Site	SNP	ENST00000281772.9	37	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160999	0.57368	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.3	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8509	0.57856	0.0814:0.0:0.9186:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C2orf67	210598071	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	1.705000	0.37867	2.636000	0.89361	0.591000	0.81541	.		0.423	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519	Intron	A	210889826	G	A	210889826	5	1	99	1	0	0	0	0	0	0	1	0	2188	1333	46	2	409	2	C2orf67	2	210889826	Splice_Site	SNP	G	TCGA-AK-3436-01A-02D-1386-10	1781531	210889826	32309547	15	6467											
ALPPL2	251	hgsc.bcm.edu	37	2	233271669	233271669	+	Missense_Mutation	SNP	C	C	T	rs16836187|rs139018608	byFrequency	TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr2:233271669C>T	ENST00000295453.3	+	1	117	c.65C>T	c.(64-66)cCa>cTa	p.P22L		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	22					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GGCATCATCCCAGGTAATGAG	0.647																																																0													72	75	74					2																	233271669		2203	4300	6503	SO:0001583	missense	251			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.65C>T	2.37:g.233271669C>T	ENSP00000295453:p.Pro22Leu		A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679525	0.47886	.	.	ENSG00000163286	ENST00000295453	D	0.83673	-1.75	2.19	2.19	0.27852	Alkaline-phosphatase-like, core domain (1);	0.185016	0.47093	D	0.000260	T	0.81187	0.4770	M	0.87097	2.86	0.58432	D	0.999995	P	0.44139	0.827	B	0.37304	0.246	T	0.82715	-0.0320	10	0.66056	D	0.02	.	7.8156	0.29258	0.2487:0.7513:0.0:0.0	rs16836187	22	P10696	PPBN_HUMAN	L	22	ENSP00000295453:P22L	ENSP00000295453:P22L	P	+	2	0	ALPPL2	232979913	0.080000	0.21391	0.999000	0.59377	0.074000	0.17049	0.145000	0.16157	1.528000	0.49103	0.205000	0.17691	CCA		0.647	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		T	233271669	C	T	233271669	3	4	99	1	0	0	0	0	1	0	0	0	549	594	21	2	67	2	ALPPL2	2	233271669	Missense_Mutation	SNP	C	TCGA-AK-3436-01A-02D-1386-10	22381843	233271669	9927704	16	6468											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52621464	52621464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr3:52621464G>A	ENST00000296302.7	-	19	3029	c.3028C>T	c.(3028-3030)Cga>Tga	p.R1010*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1025*|PBRM1_ENST00000410007.1_Intron|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R978*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1025*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1010*|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1010*			Q86U86	PB1_HUMAN	polybromo 1	1010	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1010*(4)|p.R978*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGAAATTTTCGTGTAGCCAGG	0.398			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											71	72	71					3																	52621464		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3028C>T	3.37:g.52621464G>A	ENSP00000296302:p.Arg1010*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	39	7.356284	0.98231	.	.	ENSG00000163939	ENST00000356770;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0857	0.72151	0.0:0.0:0.668:0.332	.	.	.	.	X	978;1010;1010;1010;1025;1025;1009;968	.	ENSP00000296302:R1010X	R	-	1	2	PBRM1	52596504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.097000	0.50251	1.458000	0.47871	0.655000	0.94253	CGA		0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52621464	G	A	52621464	4	1	99	1	0	0	0	0	0	1	0	0	11493	1153	40	1	1920	1	PBRM1	3	52621464	Nonsense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10		52621464	145400966	17	6469											
CLRN1	7401	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	150659493	150659493	+	Silent	SNP	G	G	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr3:150659493G>T	ENST00000327047.1	-	2	599	c.309C>A	c.(307-309)ctC>ctA	p.L103L	RP11-166N6.3_ENST00000569170.1_Missense_Mutation_p.S13Y|CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Silent_p.L27L|CLRN1_ENST00000328863.4_Silent_p.L103L	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	103					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)		p.L103L(1)|p.L27L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGGCAGAGAAGAGAATGACAT	0.428																																																2	Substitution - coding silent(2)	kidney(2)											128	115	119					3																	150659493		2203	4300	6503	SO:0001819	synonymous_variant	7401			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.309C>A	3.37:g.150659493G>T			D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	ENST00000327047.1	37	CCDS3153.1																																																																																				0.428	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			T	150659493	G	T	150659493	2	4	99	1	0	0	0	0	0	0	0	1	3559	929	33	4		4	CLRN1	3	150659493	Silent	SNP	G	TCGA-AK-3436-01A-02D-1386-10	98038029	150659493	47362937	18	6470											
TRIM59	286827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	160156326	160156326	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr3:160156326G>C	ENST00000309784.4	-	3	831	c.646C>G	c.(646-648)Caa>Gaa	p.Q216E	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.Q216E|TRIM59_ENST00000543469.1_Missense_Mutation_p.Q216E	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	216					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q216E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTATATTCTTGATTAATTAGA	0.348																																																1	Substitution - Missense(1)	kidney(1)											76	80	78					3																	160156326		2201	4297	6498	SO:0001583	missense	286827			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	30834	protein-coding gene	gene with protein product			"tripartite motif-containing 57", "tripartite motif-containing 59"	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.646C>G	3.37:g.160156326G>C	ENSP00000311219:p.Gln216Glu		A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	G	8.325	0.825081	0.16678	.	.	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.24151	2.06;1.87	5.77	3.9	0.45041	.	0.357214	0.29383	N	0.012318	T	0.13157	0.0319	N	0.11255	0.115	0.26665	N	0.971831	B	0.11235	0.004	B	0.04013	0.001	T	0.12682	-1.0538	9	.	.	.	-15.8028	12.9079	0.58162	0.0:0.1894:0.7079:0.1027	.	216	Q8IWR1	TRI59_HUMAN	E	216	ENSP00000444313:Q216E;ENSP00000311219:Q216E	.	Q	-	1	0	TRIM59	161639020	0.297000	0.24408	1.000000	0.80357	0.976000	0.68499	0.668000	0.25127	2.724000	0.93272	0.561000	0.74099	CAA		0.348	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		C	160156326	G	C	160156326	3	2	99	1	0	0	0	0	1	0	0	0	16537	1299	45	4	569	4	TRIM59	3	160156326	Missense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10	9496833	160156326	37866104	19	6471											
UBE2D3	7323	broad.mit.edu;ucsc.edu	37	4	103723780	103723780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr4:103723780G>A	ENST00000453744.2	-	5	649	c.136C>T	c.(136-138)Caa>Taa	p.Q46*	UBE2D3_ENST00000507845.1_Nonsense_Mutation_p.Q17*|UBE2D3_ENST00000394801.4_Nonsense_Mutation_p.Q46*|UBE2D3_ENST00000321805.7_Nonsense_Mutation_p.Q46*|UBE2D3_ENST00000394804.2_Nonsense_Mutation_p.Q46*|UBE2D3_ENST00000338145.3_Nonsense_Mutation_p.Q46*|UBE2D3_ENST00000349311.8_Nonsense_Mutation_p.Q46*|UBE2D3_ENST00000505207.1_Nonsense_Mutation_p.Q17*|UBE2D3_ENST00000357194.6_Nonsense_Mutation_p.Q48*|UBE2D3_ENST00000504211.1_Nonsense_Mutation_p.Q17*|UBE2D3_ENST00000350435.7_Nonsense_Mutation_p.Q40*|UBE2D3_ENST00000343106.5_Nonsense_Mutation_p.Q46*|UBE2D3_ENST00000502404.1_Nonsense_Mutation_p.Q17*|UBE2D3_ENST00000394803.5_Nonsense_Mutation_p.Q46*	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	46					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.Q48*(1)|p.Q46*(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		ACACCGCCTTGATATGGGCTG	0.318																																																2	Substitution - Nonsense(2)	kidney(2)											90	95	93					4																	103723780		2203	4300	6503	SO:0001587	stop_gained	7323			U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"Ubiquitin-conjugating enzymes E2"	12476	protein-coding gene	gene with protein product		602963	"ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.136C>T	4.37:g.103723780G>A	ENSP00000396901:p.Gln46*		A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Nonsense_Mutation	SNP	ENST00000453744.2	37	CCDS3660.1	.	.	.	.	.	.	.	.	.	.	G	37	6.250117	0.97412	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000504211;ENST00000357194;ENST00000505207;ENST00000507845;ENST00000502404;ENST00000508476;ENST00000508238;ENST00000502690;ENST00000508249	.	.	.	5.74	4.89	0.63831	.	0.049416	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.1117	0.81270	0.0:0.0:0.8651:0.1349	.	.	.	.	X	46;46;46;46;46;46;40;46;46;17;48;17;17;17;17;46;46;46	.	ENSP00000318494:Q46X	Q	-	1	0	UBE2D3	103942890	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.498000	0.97972	1.398000	0.46701	0.491000	0.48974	CAA		0.318	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2	NM_181893		A	103723780	G	A	103723780	4	1	99	1	0	0	0	0	0	1	0	0	16855	1299	45	2	376	2	UBE2D3	4	103723780	Nonsense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10		103723780	87430496	20	6472											
PAPSS1	9061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	108608293	108608293	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr4:108608293A>C	ENST00000265174.4	-	4	724	c.452T>G	c.(451-453)tTa>tGa	p.L151*	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	151					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.L151*(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AAAAAACGGTAAACTTGCACC	0.348																																																1	Substitution - Nonsense(1)	kidney(1)											96	98	98					4																	108608293		2203	4300	6503	SO:0001587	stop_gained	9061			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.452T>G	4.37:g.108608293A>C	ENSP00000265174:p.Leu151*		O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Nonsense_Mutation	SNP	ENST00000265174.4	37	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	A	37	6.009266	0.97195	.	.	ENSG00000138801	ENST00000265174	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8891	15.0851	0.72145	1.0:0.0:0.0:0.0	.	.	.	.	X	151	.	ENSP00000265174:L151X	L	-	2	0	PAPSS1	108827742	1.000000	0.71417	0.104000	0.21259	0.888000	0.51559	8.692000	0.91284	1.971000	0.57363	0.454000	0.30748	TTA		0.348	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			C	108608293	A	C	108608293	4	2	99	1	0	0	0	0	0	1	0	0	11436	372	13	5	1458	5	PAPSS1	4	108608293	Nonsense_Mutation	SNP	A	TCGA-AK-3436-01A-02D-1386-10	4884513	108608293	82545983	21	6473											
TMEM154	201799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	153564272	153564272	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr4:153564272A>T	ENST00000304385.3	-	5	677	c.446T>A	c.(445-447)cTt>cAt	p.L149H		NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	149						integral component of membrane (GO:0016021)		p.L149H(1)		kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCATTTATCAAGCTCTTCCAT	0.348																																																1	Substitution - Missense(1)	kidney(1)											183	178	180					4																	153564272		2202	4300	6502	SO:0001583	missense	201799			AK056590	CCDS3779.1	4q31.3	2008-02-05			ENSG00000170006	ENSG00000170006			26489	protein-coding gene	gene with protein product						12477932	Standard	NM_152680		Approved	FLJ32028	uc003imw.2	Q6P9G4	OTTHUMG00000161463	ENST00000304385.3:c.446T>A	4.37:g.153564272A>T	ENSP00000302144:p.Leu149His		Q8WUT7|Q96MQ8	Missense_Mutation	SNP	ENST00000304385.3	37	CCDS3779.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142580	0.77888	.	.	ENSG00000170006	ENST00000304385	T	0.61627	0.09	5.88	5.88	0.94601	.	0.100040	0.46758	D	0.000272	T	0.73313	0.3571	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76002	-0.3118	10	0.87932	D	0	-13.4088	14.2482	0.66001	1.0:0.0:0.0:0.0	.	149	Q6P9G4	TM154_HUMAN	H	149	ENSP00000302144:L149H	ENSP00000302144:L149H	L	-	2	0	TMEM154	153783722	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.840000	0.69402	2.250000	0.74265	0.454000	0.30748	CTT		0.348	TMEM154-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365024.1	NM_152680		T	153564272	A	T	153564272	3	4	99	1	0	0	0	0	1	0	0	0	16076	72	3	5	117	5	TMEM154	4	153564272	Missense_Mutation	SNP	A	TCGA-AK-3436-01A-02D-1386-10	44955979	153564272	37590004	22	6474											
FNIP2	57600	broad.mit.edu;ucsc.edu	37	4	159789371	159789371	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr4:159789371C>A	ENST00000264433.6	+	13	1658	c.1583C>A	c.(1582-1584)tCt>tAt	p.S528Y	FNIP2_ENST00000379346.3_Missense_Mutation_p.S551Y	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	528					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S528Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTCCGTTGCTCTGAGCTACAA	0.488																																																1	Substitution - Missense(1)	kidney(1)											98	100	99					4																	159789371		2051	4207	6258	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1583C>A	4.37:g.159789371C>A	ENSP00000264433:p.Ser528Tyr		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048120	0.93740	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346	T;T;T	0.34472	1.36;1.36;1.36	5.99	5.99	0.97316	.	.	.	.	.	T	0.60483	0.2272	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53078	-0.8489	8	.	.	.	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	528	Q9P278	FNIP2_HUMAN	Y	528;551;551	ENSP00000264433:S528Y;ENSP00000421488:S551Y;ENSP00000368651:S551Y	.	S	+	2	0	FNIP2	160008821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.724000	0.84798	2.840000	0.97914	0.655000	0.94253	TCT		0.488	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		A	159789371	C	A	159789371	3	1	99	1	0	0	0	0	1	0	0	0	5978	913	32	4	1633	4	FNIP2	4	159789371	Missense_Mutation	SNP	C	TCGA-AK-3436-01A-02D-1386-10	6225099	159789371	31364905	23	6475											
CDH12	1010	broad.mit.edu;ucsc.edu	37	5	21760751	21760751	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr5:21760751G>T	ENST00000382254.1	-	13	2635	c.1549C>A	c.(1549-1551)Ctt>Att	p.L517I	CDH12_ENST00000522262.1_Missense_Mutation_p.L477I|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.L517I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	517	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L517I(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GCAGGTGAAAGATCTCGGTCT	0.413										HNSCC(59;0.17)																																						1	Substitution - Missense(1)	kidney(1)											129	135	133					5																	21760751		2203	4300	6503	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1549C>A	5.37:g.21760751G>T	ENSP00000371689:p.Leu517Ile		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663690	0.47572	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.60171	0.21;0.21;0.21	5.19	5.19	0.71726	Cadherin (4);Cadherin-like (1);	0.200467	0.43919	D	0.000518	T	0.43897	0.1268	L	0.40543	1.245	0.39314	D	0.965128	B;P	0.34462	0.072;0.454	B;B	0.32090	0.14;0.123	T	0.52335	-0.8589	10	0.87932	D	0	.	5.5624	0.17152	0.1202:0.0:0.6865:0.1934	.	477;517	B7Z2U6;P55289	.;CAD12_HUMAN	I	517;517;477	ENSP00000423577:L517I;ENSP00000371689:L517I;ENSP00000428786:L477I	ENSP00000371689:L517I	L	-	1	0	CDH12	21796508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.484000	0.35508	2.573000	0.86826	0.650000	0.86243	CTT		0.413	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		T	21760751	G	T	21760751	3	4	99	1	0	0	0	0	1	0	0	0	3100	942	33	4	847	4	CDH12	5	21760751	Missense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10		21760751	159154509	24	6476											
URGCP	55665	broad.mit.edu;hgsc.bcm.edu	37	7	43918173	43918173	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr7:43918173C>G	ENST00000453200.1	-	6	1382	c.889G>C	c.(889-891)Gac>Cac	p.D297H	URGCP_ENST00000447717.3_Missense_Mutation_p.D254H|URGCP_ENST00000336086.6_Missense_Mutation_p.D254H|URGCP_ENST00000402306.3_Missense_Mutation_p.D288H|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.D254H|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.D254H			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	297					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.D297H(1)|p.D254H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGTTGAGGTCCCGATGCCAG	0.577																																																2	Substitution - Missense(2)	kidney(2)											44	47	46					7																	43918173		1964	4135	6099	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.889G>C	7.37:g.43918173C>G	ENSP00000396918:p.Asp297His		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214335	0.79352	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92	5.52	5.52	0.82312	.	0.221270	0.44902	D	0.000404	T	0.28001	0.0690	L	0.52364	1.645	0.48511	D	0.999668	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.967	T	0.00171	-1.1959	10	0.51188	T	0.08	-35.6799	16.928	0.86182	0.0:1.0:0.0:0.0	.	288;297	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	H	254;254;288;254;297;254	ENSP00000223341:D254H;ENSP00000336872:D254H;ENSP00000384955:D288H;ENSP00000392136:D254H;ENSP00000396918:D297H;ENSP00000402803:D254H	ENSP00000223341:D254H	D	-	1	0	URGCP	43884698	0.887000	0.30362	0.978000	0.43139	0.993000	0.82548	1.878000	0.39608	2.604000	0.88044	0.491000	0.48974	GAC		0.577	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		G	43918173	C	G	43918173	3	3	99	1	0	0	0	0	1	0	0	0	17031	855	30	4	1910	4	URGCP	7	43918173	Missense_Mutation	SNP	C	TCGA-AK-3436-01A-02D-1386-10		43918173	115220490	25	6477											
PHTF2	57157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	77469587	77469587	+	Silent	SNP	C	C	G			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr7:77469587C>G	ENST00000248550.7	+	1	91	c.15C>G	c.(13-15)gtC>gtG	p.V5V	PHTF2_ENST00000275575.7_Silent_p.V5V|PHTF2_ENST00000450574.1_Silent_p.V5V|PHTF2_ENST00000307305.8_Silent_p.V5V|PHTF2_ENST00000422959.2_Silent_p.V5V|PHTF2_ENST00000424760.1_Silent_p.V5V|PHTF2_ENST00000415251.2_Silent_p.V5V|PHTF2_ENST00000416283.2_Silent_p.V5V			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V5V(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CGTCCAAAGTCACAGATGCTA	0.328																																																2	Substitution - coding silent(2)	kidney(2)											140	132	135					7																	77469587		1850	4100	5950	SO:0001819	synonymous_variant	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.15C>G	7.37:g.77469587C>G			A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37																																																																																					0.328	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		G	77469587	C	G	77469587	2	3	99	1	0	0	0	0	0	0	0	1	11865	813	29	4		4	PHTF2	7	77469587	Silent	SNP	C	TCGA-AK-3436-01A-02D-1386-10	33551414	77469587	81669076	26	6478											
ANGPT1	284	broad.mit.edu;hgsc.bcm.edu	37	8	108348486	108348486	+	5'UTR	SNP	G	G	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr8:108348486G>T	ENST00000520734.1	-	0	152				ANGPT1_ENST00000520052.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.T156N(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AAGTCGAGAAGTTTGATTTAG	0.308																																																1	Substitution - Missense(1)	kidney(1)											72	68	69					8																	108348486		2202	4300	6502	SO:0001623	5_prime_UTR_variant	284			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.-134C>A	8.37:g.108348486G>T			Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37		.	.	.	.	.	.	.	.	.	.	G	31	5.067473	0.93898	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	T;T	0.42900	0.96;0.96	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.61257	-0.7099	10	0.27082	T	0.32	.	19.5096	0.95135	0.0:0.0:1.0:0.0	.	156;156	Q5HYA0;Q15389	.;ANGP1_HUMAN	N	156	ENSP00000428340:T156N;ENSP00000297450:T156N	ENSP00000297450:T156N	T	-	2	0	ANGPT1	108417662	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.609000	0.98334	2.709000	0.92574	0.655000	0.94253	ACT		0.308	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		T	108348486	G	T	108348486	1	4	99	0	1	0	0	0	0	0	0	0	610	1029	36	4		4	ANGPT1	8	108348486	5'UTR	SNP	G	TCGA-AK-3436-01A-02D-1386-10		108348486	38015536	27	6479											
NET1	10276	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5494480	5494480	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr10:5494480C>T	ENST00000355029.4	+	5	665	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.R121W	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	175	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R175W(1)|p.R121W(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GGAGATCAGACGGCAGGAGGT	0.488																																																2	Substitution - Missense(2)	kidney(2)											87	76	79					10																	5494480		2203	4300	6503	SO:0001583	missense	10276			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.523C>T	10.37:g.5494480C>T	ENSP00000347134:p.Arg175Trp		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846475	0.51164	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.75154	-0.91;-0.91	5.54	5.54	0.83059	Dbl homology (DH) domain (3);	0.000000	0.42548	D	0.000699	D	0.90655	0.7069	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93140	0.6540	10	0.87932	D	0	-18.1129	18.0526	0.89354	0.0:1.0:0.0:0.0	.	121;175	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	W	175;121	ENSP00000347134:R175W;ENSP00000369717:R121W	ENSP00000347134:R175W	R	+	1	2	NET1	5484480	0.971000	0.33674	0.976000	0.42696	0.067000	0.16453	1.869000	0.39519	2.589000	0.87451	0.655000	0.94253	CGG		0.488	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		T	5494480	C	T	5494480	3	4	99	1	0	0	0	0	1	0	0	0	10340	527	19	1	638	1	NET1	10	5494480	Missense_Mutation	SNP	C	TCGA-AK-3436-01A-02D-1386-10		5494480	130040267	28	6480											
CUEDC2	79004	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	104184284	104184284	+	Silent	SNP	T	T	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr10:104184284T>A	ENST00000369937.4	-	4	397	c.252A>T	c.(250-252)tcA>tcT	p.S84S	PSD_ENST00000492902.2_5'Flank|CUEDC2_ENST00000465409.1_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	84						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.S84S(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCAGCTGCCCTGAGAGCTTCT	0.582																																																1	Substitution - coding silent(1)	kidney(1)											131	139	136					10																	104184284		2059	4209	6268	SO:0001819	synonymous_variant	79004			BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"chromosome 10 open reading frame 66"	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.252A>T	10.37:g.104184284T>A			D3DR88|Q9BWG8	Silent	SNP	ENST00000369937.4	37	CCDS41566.1																																																																																				0.582	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	NM_024040		A	104184284	T	A	104184284	2	1	99	1	0	0	0	0	0	0	0	1	4055	1567	55	5		5	CUEDC2	10	104184284	Silent	SNP	T	TCGA-AK-3436-01A-02D-1386-10	98689804	104184284	31350463	29	6481											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92088147	92088147	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr11:92088147T>C	ENST00000298047.6	+	1	2886	c.2869T>C	c.(2869-2871)Tgg>Cgg	p.W957R	FAT3_ENST00000409404.2_Missense_Mutation_p.W957R|FAT3_ENST00000541502.1_Missense_Mutation_p.W957R|FAT3_ENST00000525166.1_Missense_Mutation_p.W807R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	957	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W957R(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCATTGCTTGGCTTGAGAC	0.438										TCGA Ovarian(4;0.039)																																						2	Substitution - Missense(2)	kidney(2)											94	91	92					11																	92088147		1887	4132	6019	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2869T>C	11.37:g.92088147T>C	ENSP00000298047:p.Trp957Arg		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	16.72	3.200140	0.58126	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.82	5.82	0.92795	.	.	.	.	.	T	0.29588	0.0738	N	0.00459	-1.475	0.50813	D	0.999892	D	0.89917	1.0	D	0.91635	0.999	T	0.56402	-0.7985	9	0.15066	T	0.55	.	15.3625	0.74492	0.0:0.0:0.0:1.0	.	957	Q8TDW7-3	.	R	957;957;957;807	ENSP00000298047:W957R;ENSP00000387040:W957R;ENSP00000443786:W957R;ENSP00000432586:W807R	ENSP00000298047:W957R	W	+	1	0	FAT3	91727795	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.975000	0.88055	2.234000	0.73211	0.533000	0.62120	TGG		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		C	92088147	T	C	92088147	3	2	99	1	0	0	0	0	1	0	0	0	5693	1812	63	3	2871	3	FAT3	11	92088147	Missense_Mutation	SNP	T	TCGA-AK-3436-01A-02D-1386-10		92088147	42918369	30	6482											
KRT6B	3854	broad.mit.edu;hgsc.bcm.edu	37	12	52842629	52842629	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr12:52842629C>A	ENST00000252252.3	-	6	1247	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	400	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.K400N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		ACCATACCTGCTTCTTGACGT	0.473																																																1	Substitution - Missense(1)	kidney(1)											150	121	131					12																	52842629		2203	4300	6503	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1200G>T	12.37:g.52842629C>A	ENSP00000252252:p.Lys400Asn		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404246	0.25378	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.87809	-2.3	2.75	0.539	0.17156	Filament (1);	0.000000	0.64402	D	0.000006	D	0.87661	0.6233	L	0.48877	1.53	0.40952	D	0.984555	D	0.69078	0.997	D	0.66196	0.942	D	0.84171	0.0434	10	0.49607	T	0.09	.	6.8523	0.24022	0.0:0.4661:0.0:0.5339	.	400	P04259	K2C6B_HUMAN	N	400;360	ENSP00000252252:K400N	ENSP00000252252:K400N	K	-	3	2	KRT6B	51128896	0.429000	0.25530	0.997000	0.53966	0.136000	0.21042	-0.384000	0.07389	0.121000	0.18284	0.305000	0.20034	AAG		0.473	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		A	52842629	C	A	52842629	3	1	99	1	0	0	0	0	1	0	0	0	8483	796	28	4	510	4	KRT6B	12	52842629	Missense_Mutation	SNP	C	TCGA-AK-3436-01A-02D-1386-10		52842629	81009266	31	6483											
LRP1	4035	broad.mit.edu;hgsc.bcm.edu	37	12	57577934	57577934	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr12:57577934G>A	ENST00000243077.3	+	37	6462	c.5996G>A	c.(5995-5997)cGc>cAc	p.R1999H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1999					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.R1999H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCTCCTTCCGCTACGTGGTG	0.597																																																1	Substitution - Missense(1)	kidney(1)											67	55	59					12																	57577934		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5996G>A	12.37:g.57577934G>A	ENSP00000243077:p.Arg1999His		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	36	5.884099	0.97062	.	.	ENSG00000123384	ENST00000243077	D	0.97553	-4.43	4.84	4.84	0.62591	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.98400	0.9468	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98808	1.0742	10	0.52906	T	0.07	.	16.9352	0.86201	0.0:0.0:1.0:0.0	.	1999	Q07954	LRP1_HUMAN	H	1999	ENSP00000243077:R1999H	ENSP00000243077:R1999H	R	+	2	0	LRP1	55864201	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	9.657000	0.98554	2.532000	0.85374	0.555000	0.69702	CGC		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57577934	G	A	57577934	3	1	99	1	0	0	0	0	1	0	0	0	8953	1087	38	1	6142	1	LRP1	12	57577934	Missense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10	4735305	57577934	76273961	32	6484											
NAV3	89795	broad.mit.edu;ucsc.edu	37	12	78392214	78392214	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr12:78392214G>A	ENST00000397909.2	+	7	1011	c.838G>A	c.(838-840)Gac>Aac	p.D280N	NAV3_ENST00000536525.2_Missense_Mutation_p.D280N|NAV3_ENST00000228327.6_Missense_Mutation_p.D280N|NAV3_ENST00000266692.7_Missense_Mutation_p.D280N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	280						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.D280N(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAACAGCATTGACAAAAACAA	0.443										HNSCC(70;0.22)																																						1	Substitution - Missense(1)	kidney(1)											81	72	75					12																	78392214		1855	4104	5959	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.838G>A	12.37:g.78392214G>A	ENSP00000381007:p.Asp280Asn		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.211655	0.79240	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.57	5.57	0.84162	.	0.000000	0.42172	U	0.000752	T	0.61375	0.2342	L	0.49126	1.545	0.80722	D	1	B;D	0.67145	0.297;0.996	B;D	0.79784	0.172;0.993	T	0.60352	-0.7280	10	0.54805	T	0.06	-11.7156	19.5347	0.95244	0.0:0.0:1.0:0.0	.	280;280	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	N	280	ENSP00000446628:D280N;ENSP00000446132:D280N;ENSP00000381007:D280N;ENSP00000228327:D280N;ENSP00000266692:D280N	ENSP00000228327:D280N	D	+	1	0	NAV3	76916345	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.221000	0.95188	2.612000	0.88384	0.650000	0.86243	GAC		0.443	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78392214	G	A	78392214	3	1	99	1	0	0	0	0	1	0	0	0	10187	1290	45	2	864	2	NAV3	12	78392214	Missense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10	20814280	78392214	55459681	33	6485											
ATXN2	6311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	111923629	111923629	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr12:111923629G>A	ENST00000377617.3	-	17	2986	c.2825C>T	c.(2824-2826)gCa>gTa	p.A942V	ATXN2_ENST00000542287.2_Missense_Mutation_p.A677V|ATXN2_ENST00000389153.4_Missense_Mutation_p.A677V|AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000608853.1_Missense_Mutation_p.A782V|ATXN2_ENST00000550104.1_Missense_Mutation_p.A942V|ATXN2_ENST00000535949.1_Missense_Mutation_p.A653V	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	942	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.A942V(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCTAGGTTGTGCTTGAGGCCG	0.418																																																1	Substitution - Missense(1)	kidney(1)											157	145	149					12																	111923629		2203	4300	6503	SO:0001583	missense	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2825C>T	12.37:g.111923629G>A	ENSP00000366843:p.Ala942Val		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.151166	0.78001	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	T;T	0.66815	-0.2;-0.23	5.71	5.71	0.89125	.	0.154140	0.64402	D	0.000016	T	0.50171	0.1600	N	0.08118	0	0.44643	D	0.997622	P;B;P;P	0.52463	0.953;0.267;0.673;0.617	B;B;B;B	0.42462	0.388;0.06;0.327;0.178	T	0.51156	-0.8741	10	0.20519	T	0.43	-10.75	19.8673	0.96808	0.0:0.0:1.0:0.0	.	942;653;677;677	Q99700;Q24JQ7;F8VQP2;F8WB06	ATX2_HUMAN;.;.;.	V	677;942;942;677;653	ENSP00000366843:A942V;ENSP00000446576:A942V	ENSP00000366843:A942V	A	-	2	0	ATXN2	110408012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.246000	0.65411	2.709000	0.92574	0.655000	0.94253	GCA		0.418	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		A	111923629	G	A	111923629	3	1	99	1	0	0	0	0	1	0	0	0	1211	1319	46	2	1152	2	ATXN2	12	111923629	Missense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10	33531415	111923629	21928266	34	6486											
SPPL3	121665	broad.mit.edu;ucsc.edu	37	12	121206288	121206288	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr12:121206288A>T	ENST00000353487.2	-	8	1116	c.613T>A	c.(613-615)Ttt>Att	p.F205I		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	206						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.F205I(1)				all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTGAGAAAAATACCTGCCGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											101	96	97					12																	121206288		2203	4300	6503	SO:0001583	missense	121665				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"intramembrane protease 2", "presenilin-like protein 4"	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.613T>A	12.37:g.121206288A>T	ENSP00000288680:p.Phe205Ile		Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	ENST00000353487.2	37	CCDS9208.1	.	.	.	.	.	.	.	.	.	.	A	35	5.473777	0.96291	.	.	ENSG00000157837	ENST00000353487;ENST00000405631;ENST00000536996	T;T	0.48522	0.81;0.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.991;0.993	D	0.85964	0.1472	10	0.87932	D	0	-23.8081	15.6471	0.77063	1.0:0.0:0.0:0.0	.	206;205	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	I	205;204;168	ENSP00000288680:F205I;ENSP00000442484:F168I	ENSP00000288680:F205I	F	-	1	0	AC069214.1	119690671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.101000	0.63845	0.482000	0.46254	TTT		0.522	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		T	121206288	A	T	121206288	3	4	99	1	0	0	0	0	1	0	0	0	15095	101	4	5	557	5	SPPL3	12	121206288	Missense_Mutation	SNP	A	TCGA-AK-3436-01A-02D-1386-10	9282659	121206288	12645607	35	6487											
RSRC2	65117	broad.mit.edu;ucsc.edu	37	12	123003401	123003401	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr12:123003401G>T	ENST00000331738.7	-	4	528	c.383C>A	c.(382-384)tCt>tAt	p.S128Y	RSRC2_ENST00000354654.2_Missense_Mutation_p.S80Y	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	128	Ser-rich.						poly(A) RNA binding (GO:0044822)	p.S128Y(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ACGAGACCTAGATCTTGAGTG	0.378																																																1	Substitution - Missense(1)	kidney(1)											414	381	392					12																	123003401		2203	4300	6503	SO:0001583	missense	65117			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.383C>A	12.37:g.123003401G>T	ENSP00000330188:p.Ser128Tyr		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	CCDS31920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.941439|3.941439	0.73557|0.73557	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000526560|ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T|T;T;T	0.56776|0.26067	0.44|1.76;1.76;1.76	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42854|0.42854	0.1221|0.1221	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.69078	.|0.997;0.994;0.997;0.994	.|D;D;D;D	.|0.78314	.|0.991;0.983;0.991;0.983	T|T	0.19516|0.19516	-1.0303|-1.0303	7|10	0.87932|0.56958	D|D	0|0.05	.|.	20.263|20.263	0.98456|0.98456	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|128;80;128;69	.|F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.|.;.;RSRC2_HUMAN;.	I|Y	22|128;80;128;69	ENSP00000446470:L22I|ENSP00000330188:S128Y;ENSP00000346678:S80Y;ENSP00000343315:S69Y	ENSP00000446470:L22I|ENSP00000330188:S128Y	L|S	-|-	1|2	2|0	RSRC2|RSRC2	121569354|121569354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.217000|9.217000	0.95160|0.95160	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CTA|TCT		0.378	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		T	123003401	G	T	123003401	3	4	99	1	0	0	0	0	1	0	0	0	13721	942	33	4	949	4	RSRC2	12	123003401	Missense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10	1797113	123003401	10848494	36	6488											
FREM2	341640	broad.mit.edu;ucsc.edu	37	13	39451341	39451341	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr13:39451341A>G	ENST00000280481.7	+	21	8848	c.8632A>G	c.(8632-8634)Atg>Gtg	p.M2878V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2878					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M2878V(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGATGGATCCATGGGATTCGG	0.438																																																1	Substitution - Missense(1)	kidney(1)											357	320	333					13																	39451341		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8632A>G	13.37:g.39451341A>G	ENSP00000280481:p.Met2878Val		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.218825	0.58560	.	.	ENSG00000150893	ENST00000280481	T	0.63913	-0.07	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62841	0.2461	M	0.68593	2.085	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.59445	-0.7453	10	0.48119	T	0.1	.	16.3593	0.83251	1.0:0.0:0.0:0.0	.	2878	Q5SZK8	FREM2_HUMAN	V	2878	ENSP00000280481:M2878V	ENSP00000280481:M2878V	M	+	1	0	FREM2	38349341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.305000	0.72805	2.267000	0.75376	0.383000	0.25322	ATG		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39451341	A	G	39451341	3	3	99	1	0	0	0	0	1	0	0	0	6047	217	8	3	8714	3	FREM2	13	39451341	Missense_Mutation	SNP	A	TCGA-AK-3436-01A-02D-1386-10		39451341	75718537	37	6489											
STK24	8428	hgsc.bcm.edu;ucsc.edu	37	13	99118770	99118771	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr13:99118770_99118771insA	ENST00000376547.3	-	6	823_824	c.678_679insT	c.(676-681)agagggfs	p.G227fs	STK24_ENST00000539966.1_Frame_Shift_Ins_p.G196fs|STK24_ENST00000397517.2_Frame_Shift_Ins_p.G215fs	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	227	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGTGGTTCCCCTCTTGCAAGTT	0.455											OREG0022476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	8428			AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"STE20-like kinase 3", "sterile 20-like kinase 3"	604984	"serine/threonine kinase 24 (Ste20, yeast homolog)"			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.678_679insT	13.37:g.99118770_99118771insA	ENSP00000365730:p.Gly227fs	1341	O14840|Q5JV92	Frame_Shift_Ins	INS	ENST00000376547.3	37	CCDS9488.1																																																																																				0.455	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		A	99118771	-	A	99118770	7	5	99	1	0	1	1	0	0	0	0	0	15298	681	24	0	676	0	STK24	13	99118770	Frame_Shift_Ins	INS	-	TCGA-AK-3436-01A-02D-1386-10	59667429	99118770	16051108	38	6490											
TCF12	6938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	57458628	57458628	+	Silent	SNP	C	C	A	rs147522860		TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr15:57458628C>A	ENST00000267811.5	+	6	658	c.354C>A	c.(352-354)tcC>tcA	p.S118S	TCF12_ENST00000438423.2_Silent_p.S118S|TCF12_ENST00000452095.2_Silent_p.S114S|TCF12_ENST00000557843.1_Silent_p.S118S|TCF12_ENST00000333725.5_Silent_p.S118S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	118					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.S118S(4)|p.S114S(2)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCTCATTTTCCCTGTACAGCA	0.308			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	6	Substitution - coding silent(6)	lung(3)|kidney(3)											91	103	99					15																	57458628		2192	4286	6478	SO:0001819	synonymous_variant	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.354C>A	15.37:g.57458628C>A			Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	CCDS10159.1																																																																																				0.308	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		A	57458628	C	A	57458628	2	1	99	1	0	0	0	0	0	0	0	1	15692	610	22	4		4	TCF12	15	57458628	Silent	SNP	C	TCGA-AK-3436-01A-02D-1386-10		57458628	45072764	39	6491											
FAH	2184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	80452758	80452758	+	Silent	SNP	C	C	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr15:80452758C>T	ENST00000407106.1	+	5	476	c.321C>T	c.(319-321)ttC>ttT	p.F107F	FAH_ENST00000561421.1_Silent_p.F107F|FAH_ENST00000539156.1_Silent_p.F37F|FAH_ENST00000261755.5_Silent_p.F107F|FAH_ENST00000558627.1_3'UTR			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	107					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)	p.F107F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAGTGCATTCATCTCCCAGG	0.567									Tyrosinemia, type 1																																							1	Substitution - coding silent(1)	kidney(1)											123	103	110					15																	80452758		2203	4300	6503	SO:0001819	synonymous_variant	2184	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.321C>T	15.37:g.80452758C>T			B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	CCDS10314.1																																																																																				0.567	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			T	80452758	C	T	80452758	2	4	99	1	0	0	0	0	0	0	0	1	5373	825	29	2		2	FAH	15	80452758	Silent	SNP	C	TCGA-AK-3436-01A-02D-1386-10	22994130	80452758	22078634	40	6492											
MSLNL	401827	hgsc.bcm.edu	37	16	830807	830829	+	Intron	DEL	AGCTGTGTGCACGGGTAGGTGAA	AGCTGTGTGCACGGGTAGGTGAA	-	rs3765330|rs199778248|rs374783495|rs548970443|rs371398602	byFrequency	TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	AGCTGTGTGCACGGGTAGGTGAA	AGCTGTGTGCACGGGTAGGTGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr16:830807_830829delAGCTGTGTGCACGGGTAGGTGAA	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Frame_Shift_Del_p.FTYPCTQL58fs			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTAGGTGACAGCTGTGTGCACGGGTAGGTGAAAGCTGTGTGC	0.587																																																0										8,3972		0,8,1982						-0.2	0			136	57,7953		1,55,3949	no	frameshift	MSLNL	NM_001025190.1		1,63,5931	A1A1,A1R,RR		0.7116,0.201,0.5421				65,11925				SO:0001627	intron_variant	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-645TTCACCTACCCGTGCACACAGCT>-	16.37:g.830807_830829delAGCTGTGTGCACGGGTAGGTGAA				Frame_Shift_Del	DEL	ENST00000442466.1	37																																																																																					0.587	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		-	830829	AGCTGTGTGCACGGGTAGGTGAA	-	830807	6	5	99	0	1	1	0	1	0	0	0	0	9884	188	7	0		0	MSLNL	16	830807	Intron	DEL	AGCTGTGTGCACGGGTAGGTGAA	TCGA-AK-3436-01A-02D-1386-10		830807	89523946	41	6493											
MYH1	4619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10408350	10408350	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr17:10408350C>T	ENST00000226207.5	-	22	2562	c.2468G>A	c.(2467-2469)cGt>cAt	p.R823H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	823					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R823H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATGAAGGCACGGACATTGTA	0.423																																																1	Substitution - Missense(1)	kidney(1)											91	86	88					17																	10408350		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2468G>A	17.37:g.10408350C>T	ENSP00000226207:p.Arg823His		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263520	0.80358	.	.	ENSG00000109061	ENST00000226207	D	0.86956	-2.19	5.47	5.47	0.80525	.	0.000000	0.43579	U	0.000560	D	0.96321	0.8800	H	0.98951	4.38	0.58432	D	0.999999	D	0.71674	0.998	P	0.62885	0.908	D	0.97554	1.0094	10	0.66056	D	0.02	.	19.6961	0.96026	0.0:1.0:0.0:0.0	.	823	P12882	MYH1_HUMAN	H	823	ENSP00000226207:R823H	ENSP00000226207:R823H	R	-	2	0	MYH1	10349075	1.000000	0.71417	0.700000	0.30305	0.437000	0.31866	7.692000	0.84203	2.745000	0.94114	0.650000	0.86243	CGT		0.423	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		T	10408350	C	T	10408350	3	4	99	1	0	0	0	0	1	0	0	0	10031	536	19	1	3427	1	MYH1	17	10408350	Missense_Mutation	SNP	C	TCGA-AK-3436-01A-02D-1386-10		10408350	70786860	42	6494											
MYH1	4619	broad.mit.edu;hgsc.bcm.edu	37	17	10409332	10409332	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr17:10409332G>C	ENST00000226207.5	-	18	2147	c.2053C>G	c.(2053-2055)Cct>Gct	p.P685A	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	685	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P685A(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTCTTACCAGGAGTTTTAGTT	0.463																																																1	Substitution - Missense(1)	kidney(1)											138	137	137					17																	10409332		2203	4298	6501	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2053C>G	17.37:g.10409332G>C	ENSP00000226207:p.Pro685Ala		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207516	0.58343	.	.	ENSG00000109061	ENST00000226207	T	0.73152	-0.72	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000624	T	0.73644	0.3613	M	0.75264	2.295	0.80722	D	1	B	0.13594	0.008	B	0.21708	0.036	T	0.72676	-0.4221	10	0.66056	D	0.02	.	18.7276	0.91720	0.0:0.0:1.0:0.0	.	685	P12882	MYH1_HUMAN	A	685	ENSP00000226207:P685A	ENSP00000226207:P685A	P	-	1	0	MYH1	10350057	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.291000	0.96070	2.745000	0.94114	0.650000	0.86243	CCT		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		C	10409332	G	C	10409332	3	2	99	1	0	0	0	0	1	0	0	0	10031	1174	41	4	3858	4	MYH1	17	10409332	Missense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10	982	10409332	70785878	43	6495											
RPL19	6143	hgsc.bcm.edu	37	17	37360844	37360844	+	Silent	SNP	G	G	A	rs72823350		TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr17:37360844G>A	ENST00000225430.4	+	6	596	c.534G>A	c.(532-534)caG>caA	p.Q178Q	RPL19_ENST00000582193.1_Silent_p.Q176Q|RPL19_ENST00000579260.1_Silent_p.Q176Q|RPL19_ENST00000579374.1_Silent_p.Q175Q	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	178					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						AGCGCCTCCAGGCCAAGAAGG	0.517																																																0													66	71	70					17																	37360844		1907	4116	6023	SO:0001819	synonymous_variant	6143				CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"L ribosomal proteins"	10312	protein-coding gene	gene with protein product	"60S ribosomal protein L19", "ribosomal protein L19, cytosolic, N-terminus truncated"	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.534G>A	17.37:g.37360844G>A			B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Silent	SNP	ENST00000225430.4	37	CCDS42312.1																																																																																				0.517	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	NM_000981		A	37360844	G	A	37360844	2	1	99	1	0	0	0	0	0	0	0	1	13572	991	35	2		2	RPL19	17	37360844	Silent	SNP	G	TCGA-AK-3436-01A-02D-1386-10	26951512	37360844	43834366	44	6496											
KRTAP9-4	85280	hgsc.bcm.edu	37	17	39406343	39406343	+	Missense_Mutation	SNP	A	A	G	rs148655704	byFrequency	TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr17:39406343A>G	ENST00000334109.2	+	1	405	c.371A>G	c.(370-372)aAc>aGc	p.N124S		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	124	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGTGGCTCCAACTGCTGCCAG	0.587																																																0													165	164	164					17																	39406343		2203	4298	6501	SO:0001583	missense	85280			AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"Keratin associated proteins"	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.371A>G	17.37:g.39406343A>G	ENSP00000334922:p.Asn124Ser		Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.064537	0.00386	.	.	ENSG00000241595	ENST00000334109	T	0.00864	5.6	1.95	-0.382	0.12481	.	.	.	.	.	T	0.00328	0.0010	N	0.00483	-1.445	0.09310	N	1	B	0.22276	0.067	B	0.23275	0.045	T	0.42999	-0.9418	9	0.15066	T	0.55	.	0.925	0.01323	0.1577:0.228:0.3831:0.2312	.	124	Q9BYQ2	KRA94_HUMAN	S	124	ENSP00000334922:N124S	ENSP00000334922:N124S	N	+	2	0	KRTAP9-4	36659869	0.000000	0.05858	0.211000	0.23655	0.006000	0.05464	-1.073000	0.03430	-0.046000	0.13446	-1.355000	0.01225	AAC		0.587	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			G	39406343	A	G	39406343	3	3	99	1	0	0	0	0	1	0	0	0	8577	43	2	3	373	3	KRTAP9-4	17	39406343	Missense_Mutation	SNP	A	TCGA-AK-3436-01A-02D-1386-10	2045499	39406343	41788867	45	6497											
ZNF519	162655	hgsc.bcm.edu	37	18	14105166	14105249	+	In_Frame_Del	DEL	TTCTCTCCAGTATGGATTCTTTGATGTCGAGTAAGGTGTGAGCCCCTGTTAAAGGCTTTGCCACATTCTTTACATTTGAAGTGT	TTCTCTCCAGTATGGATTCTTTGATGTCGAGTAAGGTGTGAGCCCCTGTTAAAGGCTTTGCCACATTCTTTACATTTGAAGTGT	-	rs145735313|rs543489203|rs148982947|rs147242149|rs149803578|rs564983246|rs144389001|rs542875576|rs139675432|rs145376132|rs532361810|rs185469686|rs576494908	byFrequency	TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	TTCTCTCCAGTATGGATTCTTTGATGTCGAGTAAGGTGTGAGCCCCTGTTAAAGGCTTTGCCACATTCTTTACATTTGAAGTGT	TTCTCTCCAGTATGGATTCTTTGATGTCGAGTAAGGTGTGAGCCCCTGTTAAAGGCTTTGCCACATTCTTTACATTTGAAGTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr18:14105166_14105249delTTCTCTCCAGTATGGATTCTTTGATGTCGAGTAAGGTGTGAGCCCCTGTTAAAGGCTTTGCCACATTCTTTACATTTGAAGTGT	ENST00000590202.1	-	3	1442_1525	c.1290_1373delACACTTCAAATGTAAAGAATGTGGCAAAGCCTTTAACAGGGGCTCACACCTTACTCGACATCAAAGAATCCATACTGGAGAGAA	c.(1288-1374)aaacacttcaaatgtaaagaatgtggcaaagcctttaacaggggctcacaccttactcgacatcaaagaatccatactggagagaag>aag	p.430_458KHFKCKECGKAFNRGSHLTRHQRIHTGEK>K	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	430					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TTTGAAAGACTTCTCTCCAGTATGGATTCTTTGATGTCGAGTAAGGTGTGAGCCCCTGTTAAAGGCTTTGCCACATTCTTTACATTTGAAGTGTTTCTCTCCAG	0.405																																																0																																										SO:0001651	inframe_deletion	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1290_1373delACACTTCAAATGTAAAGAATGTGGCAAAGCCTTTAACAGGGGCTCACACCTTACTCGACATCAAAGAATCCATACTGGAGAGAA	18.37:g.14105166_14105249delTTCTCTCCAGTATGGATTCTTTGATGTCGAGTAAGGTGTGAGCCCCTGTTAAAGGCTTTGCCACATTCTTTACATTTGAAGTGT	ENSP00000464872:p.Lys430_Glu457del			In_Frame_Del	DEL	ENST00000590202.1	37	CCDS32797.1																																																																																				0.405	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		-	14105249	TTCTCTCCAGTATGGATTCTTTGATGTCGAGTAAGGTGTGAGCCCCTGTTAAAGGCTTTGCCACATTCTTTACATTTGAAGTGT	-	14105166	7	5	99	1	0	1	0	1	0	0	0	0	17969	1609	56	0	253	0	ZNF519	18	14105166	In_Frame_Del	DEL	TTCTCTCCAGTATGGATTCTTTGATGTCGAGTAAGGTGTGAGCCCCTGTTAAAGGCTTTGCCACATTCTTTACATTTGAAGTGT	TCGA-AK-3436-01A-02D-1386-10		14105166	63972082	46	6498											
OR7D4	125958	broad.mit.edu;hgsc.bcm.edu	37	19	9325393	9325393	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr19:9325393C>T	ENST00000308682.2	-	1	149	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G41R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGCAGGTTCCCCAGCACCGTG	0.517																																																1	Substitution - Missense(1)	kidney(1)											77	73	74					19																	9325393		2203	4300	6503	SO:0001583	missense	125958				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.121G>A	19.37:g.9325393C>T	ENSP00000310488:p.Gly41Arg		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	9.851	1.193628	0.22037	.	.	ENSG00000174667	ENST00000308682	T	0.04406	3.63	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.17959	0.0431	M	0.91196	3.185	0.38135	D	0.938287	B	0.27166	0.17	B	0.39379	0.298	T	0.10291	-1.0636	10	0.87932	D	0	.	15.2077	0.73192	0.0:1.0:0.0:0.0	.	41	Q8NG98	OR7D4_HUMAN	R	41	ENSP00000310488:G41R	ENSP00000310488:G41R	G	-	1	0	OR7D4	9186393	0.000000	0.05858	0.659000	0.29680	0.046000	0.14306	0.658000	0.24979	2.259000	0.74868	0.436000	0.28706	GGG		0.517	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			T	9325393	C	T	9325393	3	4	99	1	0	0	0	0	1	0	0	0	11222	623	22	2	821	2	OR7D4	19	9325393	Missense_Mutation	SNP	C	TCGA-AK-3436-01A-02D-1386-10		9325393	49803590	47	6499											
SIGLEC5	8778	hgsc.bcm.edu	37	19	52131256	52131257	+	Frame_Shift_Ins	INS	-	-	G	rs149243374	byFrequency	TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr19:52131256_52131257insG	ENST00000534261.2	-	6	1226_1227	c.827_828insC	c.(826-828)cctfs	p.P276fs	SIGLEC5_ENST00000570106.2_Frame_Shift_Ins_p.P276fs|SIGLEC5_ENST00000599649.1_Frame_Shift_Ins_p.P276fs|SIGLEC5_ENST00000222107.4_Frame_Shift_Ins_p.P276fs|SIGLEC5_ENST00000429354.3_Frame_Shift_Ins_p.P276fs			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	276	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCAGGTGTGCAGGGGGGTTGCT	0.604													GGGGGG|GGGGGG|GGGGGGG|insertion	4	0.000798722	0.0	0.0014	5008	,	,		16471	0.0		0.003	False		,,,				2504	0.0															0										4,4260		0,4,2128						0.1	0		dbSNP_134	61	29,8223		0,29,4097	no	frameshift	SIGLEC5	NM_003830.2		0,33,6225	A1A1,A1R,RR		0.3514,0.0938,0.2637				33,12483				SO:0001589	frameshift_variant	8778			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.828dupC	19.37:g.52131262_52131262dupG	ENSP00000473238:p.Pro276fs			Frame_Shift_Ins	INS	ENST00000534261.2	37	CCDS33088.1																																																																																				0.604	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		G	52131257	-	G	52131256	7	5	99	1	0	1	1	0	0	0	0	0	14317	175	7	0	847	0	SIGLEC5	19	52131256	Frame_Shift_Ins	INS	-	TCGA-AK-3436-01A-02D-1386-10	42805863	52131256	6997727	48	6500											
C19orf51	352909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55670934	55670934	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr19:55670934G>T	ENST00000524407.2	-	11	1238	c.1205C>A	c.(1204-1206)gCa>gAa	p.A402E	DNAAF3_ENST00000455045.1_Missense_Mutation_p.A348E|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000344887.5_5'Flank|CTD-2587H24.4_ENST00000587871.1_Silent_p.G63G|DNAAF3_ENST00000587789.2_5'UTR|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000527223.2_Missense_Mutation_p.A469E|TNNI3_ENST00000588882.1_5'Flank|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A449E			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	402					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)		p.A449E(1)									CCCTCCGGGTGCCACACAGGC	0.592																																																1	Substitution - Missense(1)	kidney(1)											102	110	107					19																	55670934		2027	4187	6214	SO:0001583	missense	0			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1205C>A	19.37:g.55670934G>T	ENSP00000432046:p.Ala402Glu		A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831170	0.71258	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720;ENST00000530077	T;T	0.18016	2.24;2.24	4.21	3.15	0.36227	.	0.130082	0.49916	D	0.000124	T	0.34366	0.0895	M	0.64404	1.975	0.37253	D	0.906636	D;D;D;D	0.76494	0.989;0.996;0.965;0.999	P;D;P;D	0.70016	0.848;0.944;0.719;0.967	T	0.24154	-1.0168	10	0.36615	T	0.2	-19.6496	11.7241	0.51700	0.0:0.0:0.8213:0.1786	.	469;348;422;402	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	E	469;348;449;97	ENSP00000394343:A348E;ENSP00000375600:A449E	ENSP00000301249:A469E	A	-	2	0	C19orf51	60362746	1.000000	0.71417	0.997000	0.53966	0.670000	0.39368	0.769000	0.26604	1.073000	0.40885	0.485000	0.47835	GCA		0.592	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		T	55670934	G	T	55670934	3	4	99	1	0	0	0	0	1	0	0	0	1935	1319	46	4	428	4	C19orf51	19	55670934	Missense_Mutation	SNP	G	TCGA-AK-3436-01A-02D-1386-10	3539678	55670934	3458049	49	6501											
SYT5	6861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55686305	55686305	+	Silent	SNP	G	G	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr19:55686305G>A	ENST00000354308.3	-	7	1140	c.771C>T	c.(769-771)acC>acT	p.T257T	SYT5_ENST00000590851.1_Silent_p.T253T|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000537500.1_Silent_p.T257T	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	257	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.T257T(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGACGATGACGGTGAGCTTCC	0.617																																																1	Substitution - coding silent(1)	kidney(1)											119	113	115					19																	55686305		2203	4300	6503	SO:0001819	synonymous_variant	6861			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.771C>T	19.37:g.55686305G>A			B3KWJ8|B7Z300|Q86X72	Silent	SNP	ENST00000354308.3	37	CCDS12919.1																																																																																				0.617	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		A	55686305	G	A	55686305	2	1	99	1	0	0	0	0	0	0	0	1	15482	1103	39	1		1	SYT5	19	55686305	Silent	SNP	G	TCGA-AK-3436-01A-02D-1386-10	15371	55686305	3442678	50	6502											
B4GALT5	9334	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	48273175	48273175	+	Silent	SNP	G	G	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr20:48273175G>A	ENST00000371711.4	-	2	367	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	60					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.I60I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CCTGAGCACCGATTGTTCTCA	0.458																																																1	Substitution - coding silent(1)	kidney(1)											137	125	129					20																	48273175		2203	4300	6503	SO:0001819	synonymous_variant	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.180C>T	20.37:g.48273175G>A			E1P625|Q2M394|Q9UJQ8	Silent	SNP	ENST00000371711.4	37	CCDS13420.1																																																																																				0.458	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		A	48273175	G	A	48273175	2	1	99	1	0	0	0	0	0	0	0	1	1274	1048	37	1		1	B4GALT5	20	48273175	Silent	SNP	G	TCGA-AK-3436-01A-02D-1386-10		48273175	14752345	51	6503											
RBM11	54033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	15592035	15592035	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr21:15592035A>T	ENST00000400577.3	+	2	257	c.248A>T	c.(247-249)cAg>cTg	p.Q83L	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	83	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)	p.Q83L(1)		endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		ATTAACGTGCAGTATCGATTT	0.368																																																1	Substitution - Missense(1)	kidney(1)											95	85	88					21																	15592035		1568	3582	5150	SO:0001583	missense	54033			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.248A>T	21.37:g.15592035A>T	ENSP00000383421:p.Gln83Leu		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965674	0.74131	.	.	ENSG00000185272	ENST00000400577	T	0.74632	-0.86	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.100598	0.42682	D	0.000661	T	0.67906	0.2943	N	0.25957	0.775	0.43617	D	0.995996	P	0.50943	0.94	P	0.49140	0.601	T	0.69749	-0.5061	10	0.48119	T	0.1	-15.5523	10.7342	0.46115	0.9232:0.0:0.0768:0.0	.	83	P57052	RBM11_HUMAN	L	83	ENSP00000383421:Q83L	ENSP00000383421:Q83L	Q	+	2	0	RBM11	14513906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.440000	0.59975	2.150000	0.67090	0.533000	0.62120	CAG		0.368	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		T	15592035	A	T	15592035	3	4	99	1	0	0	0	0	1	0	0	0	13118	188	7	5	254	5	RBM11	21	15592035	Missense_Mutation	SNP	A	TCGA-AK-3436-01A-02D-1386-10		15592035	32537860	52	6504											
CELSR1	9620	hgsc.bcm.edu	37	22	46759085	46759111	+	Splice_Site	DEL	CTGATGGTTCAAATTGAAGTTTCATTA	CTGATGGTTCAAATTGAAGTTTCATTA	-	rs114738587|rs576512903|rs369149647|rs372842484	byFrequency	TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	CTGATGGTTCAAATTGAAGTTTCATTA	CTGATGGTTCAAATTGAAGTTTCATTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chr22:46759085_46759111delCTGATGGTTCAAATTGAAGTTTCATTA	ENST00000262738.3	-	35	9035		c.e35-1			NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1						anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCACGGTTTCCTGATGGTTCAAATTGAAGTTTCATTACTGATGGTTC	0.564														320	0.0638978	0.2322	0.0173	5008	,	,		23591	0.0		0.001	False		,,,				2504	0.0															1	Unknown(1)	lung(1)								509,3749		100,309,1720						5	1			151	2,8250		0,2,4124	no	splice-3	CELSR1	NM_014246.1		100,311,5844	A1A1,A1R,RR		0.0242,11.954,4.0847				511,11999				SO:0001630	splice_region_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.9036-1TAATGAAACTTCAATTTGAACCATCAG>-	22.37:g.46759085_46759111delCTGATGGTTCAAATTGAAGTTTCATTA			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Del	DEL	ENST00000262738.3	37	CCDS14076.1																																																																																				0.564	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	Intron	-	46759111	CTGATGGTTCAAATTGAAGTTTCATTA	-	46759085	8	5	99	1	0	1	0	1	0	0	1	0	3223	695	24	0	13	0	CELSR1	22	46759085	Splice_Site	DEL	CTGATGGTTCAAATTGAAGTTTCATTA	TCGA-AK-3436-01A-02D-1386-10		46759085	4545481	53	6505											
PPP1R3F	89801	broad.mit.edu;hgsc.bcm.edu	37	X	49143162	49143162	+	Silent	SNP	G	G	A			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chrX:49143162G>A	ENST00000055335.6	+	4	2026	c.2010G>A	c.(2008-2010)ggG>ggA	p.G670G	PPP1R3F_ENST00000376188.1_Silent_p.G324G|PPP1R3F_ENST00000466508.1_Silent_p.G324G|PPP1R3F_ENST00000495799.1_Silent_p.G324G|PPP1R3F_ENST00000438316.1_Silent_p.G341G	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	670					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.G670G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GGGAGGCCGGGACAGAAGCCC	0.577																																																1	Substitution - coding silent(1)	kidney(1)											47	33	38					X																	49143162		2202	4299	6501	SO:0001819	synonymous_variant	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2010G>A	X.37:g.49143162G>A			A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	CCDS35254.1																																																																																				0.577	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		A	49143162	G	A	49143162	2	1	99	1	0	0	0	0	0	0	0	1	12380	1161	41	2		2	PPP1R3F	23	49143162	Silent	SNP	G	TCGA-AK-3436-01A-02D-1386-10		49143162	106127398	54	6506											
XIAP	331	broad.mit.edu	37	X	123025168	123025168	+	Splice_Site	SNP	T	T	C			TCGA-AK-3436-01A-02D-1386-10	TCGA-AK-3436-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	714cd118-7f2b-47a5-83f6-41b20674ad03	593c9ff9-5933-4eed-9477-3c0fa7c9dc95	g.chrX:123025168T>C	ENST00000371199.3	+	4	1355		c.e4+2		XIAP_ENST00000434753.3_Splice_Site|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Splice_Site	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GAGTGTCTGGTAAGTCTCata	0.219									X-linked Lymphoproliferative syndrome																																							1	Unknown(1)	kidney(1)											28	27	27					X																	123025168		2171	4229	6400	SO:0001630	splice_region_variant	331	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"Baculoviral IAP repeat containing"	592	protein-coding gene	gene with protein product		300079	"baculoviral IAP repeat-containing 4"	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1056+2T>C	X.37:g.123025168T>C			D3DTF2|Q9NQ14	Splice_Site	SNP	ENST00000371199.3	37	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985810	0.35036	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	.	.	.	4.97	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4015	0.21640	0.1589:0.0:0.1621:0.679	.	.	.	.	.	-1	.	.	.	+	.	.	XIAP	122852849	1.000000	0.71417	0.991000	0.47740	0.570000	0.35934	2.718000	0.47236	0.618000	0.30179	0.441000	0.28932	.		0.219	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167	Intron	C	123025168	T	C	123025168	5	2	99	1	0	0	0	0	0	0	1	0	17433	1652	57	3	1068	3	XIAP	23	123025168	Splice_Site	SNP	T	TCGA-AK-3436-01A-02D-1386-10	73882006	123025168	32245392	55	6507											
ZMYM6	9204	broad.mit.edu	37	1	35476132	35476132	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:35476132C>A	ENST00000357182.4	-	10	1635	c.1408G>T	c.(1408-1410)Gca>Tca	p.A470S	ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	470					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCACACATTGCCACAACTTTA	0.378																																																0													145	138	141					1																	35476132		2203	4300	6503	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1408G>T	1.37:g.35476132C>A	ENSP00000349708:p.Ala470Ser		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186303	0.78789	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.22743	1.94;3.11	5.24	5.24	0.73138	Zinc finger, MYM-type (1);	0.297370	0.36338	N	0.002658	T	0.38295	0.1035	L	0.43923	1.385	0.45046	D	0.998061	D;D;D	0.71674	0.994;0.998;0.997	D;D;D	0.75484	0.926;0.986;0.939	T	0.01108	-1.1449	10	0.21014	T	0.42	-4.7555	18.3537	0.90348	0.0:1.0:0.0:0.0	.	373;470;470	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	S	470	ENSP00000362437:A470S;ENSP00000349708:A470S	ENSP00000349708:A470S	A	-	1	0	ZMYM6	35248719	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.729000	0.47327	2.890000	0.99128	0.650000	0.86243	GCA		0.378	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		A	35476132	C	A	35476132	3	1	100	1	0	0	0	0	1	0	0	0	17709	739	26	4	2597	4	ZMYM6	1	35476132	Missense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08		35476132	213774489	1	6508											
PRKACB	5567	broad.mit.edu	37	1	84700917	84700917	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:84700917G>C	ENST00000370689.2	+	10	1249	c.985G>C	c.(985-987)Gat>Cat	p.D329H	PRKACB_ENST00000370682.3_Missense_Mutation_p.D333H|PRKACB_ENST00000394838.2_Missense_Mutation_p.D336H|PRKACB_ENST00000394839.2_Missense_Mutation_p.D299H|PRKACB_ENST00000370685.3_Missense_Mutation_p.D376H	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	329	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CAGCAACTTTGATGACTATGA	0.343																																																0													77	80	79					1																	84700917		2203	4300	6503	SO:0001583	missense	5567			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.985G>C	1.37:g.84700917G>C	ENSP00000359723:p.Asp329His		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040484	0.93630	.	.	ENSG00000142875	ENST00000370689;ENST00000370685;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000394839;ENST00000370681	T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05	6.17	6.17	0.99709	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	H	0.99752	4.75	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.992;0.995;0.998;0.997;0.987;1.0;0.999	D;D;P;D;D;D;D;D	0.81914	0.995;0.974;0.904;0.97;0.956;0.956;0.989;0.995	T	0.72669	-0.4223	10	0.87932	D	0	-24.3941	20.8794	0.99867	0.0:0.0:1.0:0.0	.	329;317;336;299;335;333;376;329	B2RB89;P22694-3;B4DKB0;B1APG4;P22694-6;P22694-7;P22694-2;P22694	.;.;.;.;.;.;.;KAPCB_HUMAN	H	329;376;336;333;335;299;291	ENSP00000359723:D329H;ENSP00000359719:D376H;ENSP00000378314:D336H;ENSP00000359716:D333H;ENSP00000378315:D299H	ENSP00000359713:D335H	D	+	1	0	PRKACB	84473505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAT		0.343	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		C	84700917	G	C	84700917	3	2	100	1	0	0	0	0	1	0	0	0	12503	1290	45	4	1227	4	PRKACB	1	84700917	Missense_Mutation	SNP	G	TCGA-AK-3440-01A-01D-0966-08	49224785	84700917	164549704	2	6509											
XPC	7508	broad.mit.edu	37	3	14220061	14220061	+	Missense_Mutation	SNP	C	C	G	rs369735922		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:14220061C>G	ENST00000285021.7	-	1	222	c.8G>C	c.(7-9)cGg>cCg	p.R3P	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.R3P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	3					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGCGCGTTTCCGAGCCATGTT	0.701			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"xeroderma pigmentosum, complementation group C"		E	0													27	33	31					3																	14220061		1942	4120	6062	SO:0001583	missense	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.8G>C	3.37:g.14220061C>G	ENSP00000285021:p.Arg3Pro		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915376	0.73098	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.62105	0.05;0.05;0.05	5.19	2.27	0.28462	.	0.406531	0.22152	N	0.063914	T	0.45196	0.1330	N	0.20986	0.625	0.35020	D	0.757773	B;B	0.15930	0.015;0.015	B;B	0.14023	0.01;0.01	T	0.42481	-0.9449	10	0.33940	T	0.23	-2.486	10.6788	0.45802	0.1383:0.5947:0.2671:0.0	.	3;3	E9PH69;Q01831	.;XPC_HUMAN	P	3	ENSP00000285021:R3P;ENSP00000404002:R3P;ENSP00000423867:R3P	ENSP00000285021:R3P	R	-	2	0	XPC	14195065	0.004000	0.15560	0.010000	0.14722	0.581000	0.36288	0.670000	0.25157	0.142000	0.18901	0.591000	0.81541	CGG		0.701	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		G	14220061	C	G	14220061	3	3	100	1	0	0	0	0	1	0	0	0	17446	652	23	4	1827	4	XPC	3	14220061	Missense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08		14220061	183802369	3	6510											
ANXA3	306	broad.mit.edu	37	4	79522703	79522703	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:79522703G>T	ENST00000264908.6	+	11	1149	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	257					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGCCGAAAGACTGCATCGA	0.388																																					GBM(2;126 157 27790 28920 42492)											0													131	122	125					4																	79522703		2203	4300	6503	SO:0001583	missense	306			M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.770G>T	4.37:g.79522703G>T	ENSP00000264908:p.Arg257Ile		B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120043	0.56613	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570	T;T;T	0.03065	4.06;4.06;4.06	5.21	4.37	0.52481	.	0.104658	0.64402	D	0.000014	T	0.11067	0.0270	M	0.74647	2.275	0.58432	D	0.999999	P	0.49253	0.921	P	0.50708	0.648	T	0.00893	-1.1524	10	0.87932	D	0	.	12.562	0.56286	0.0811:0.0:0.9189:0.0	.	257	P12429	ANXA3_HUMAN	I	257;218;218	ENSP00000264908:R257I;ENSP00000423068:R218I;ENSP00000421015:R218I	ENSP00000264908:R257I	R	+	2	0	ANXA3	79741727	0.998000	0.40836	0.945000	0.38365	0.482000	0.33219	1.372000	0.34261	1.420000	0.47138	0.585000	0.79938	AGA		0.388	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		T	79522703	G	T	79522703	3	4	100	1	0	0	0	0	1	0	0	0	719	942	33	4	808	4	ANXA3	4	79522703	Missense_Mutation	SNP	G	TCGA-AK-3440-01A-01D-0966-08		79522703	111631573	4	6511											
GRM6	2916	broad.mit.edu	37	5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	rs151103990	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:178410177C>T	ENST00000517717.1	-	10	2208	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V724M			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTCAATCACGCTGTGTGGG	0.607																																																0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	58	49	52		2170	2.6	0.7	5	dbSNP_134	52	9,8591	7.1+/-27.0	0,9,4291	yes	missense	GRM6	NM_000843.3	21	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	benign	724/878	178410177	10,12996	2203	4300	6503	SO:0001583	missense	2916			U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2170G>A	5.37:g.178410177C>T	ENSP00000430767:p.Val724Met			Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133924	0.37630	2.27E-4	0.001047	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89123	-2.47;-2.47	5.33	2.58	0.30949	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.86887	0.6041	L	0.38175	1.15	0.27099	N	0.962676	B;P	0.51351	0.434;0.944	B;P	0.55824	0.165;0.785	T	0.75969	-0.3130	9	0.33940	T	0.23	.	4.3315	0.11066	0.1577:0.5874:0.0:0.2549	.	724;18	O15303;Q5HYM4	GRM6_HUMAN;.	M	724	ENSP00000231188:V724M;ENSP00000430767:V724M	ENSP00000231188:V724M	V	-	1	0	GRM6	178342783	0.406000	0.25344	0.653000	0.29593	0.679000	0.39708	0.879000	0.28146	0.339000	0.23719	0.484000	0.47621	GTG		0.607	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			T	178410177	C	T	178410177	3	4	100	1	0	0	0	0	1	0	0	0	6803	536	19	1	471	1	GRM6	5	178410177	Missense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08		178410177	2505083	5	6512											
C6orf222	389384	broad.mit.edu	37	6	36298372	36298372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:36298372C>T	ENST00000437635.2	-	2	273	c.96G>A	c.(94-96)tgG>tgA	p.W32*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	32										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AATGGCAGTCCCACGACTCCG	0.647																																																0													51	58	56					6																	36298372		2202	4300	6502	SO:0001587	stop_gained	389384				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.96G>A	6.37:g.36298372C>T	ENSP00000418983:p.Trp32*		B2RTY8	Nonsense_Mutation	SNP	ENST00000437635.2	37	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184556	0.78677	.	.	ENSG00000189325	ENST00000437635	.	.	.	4.76	2.9	0.33743	.	1.944880	0.02601	N	0.101005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.7382	6.4133	0.21702	0.0:0.7119:0.1857:0.1024	.	.	.	.	X	32	.	ENSP00000418983:W32X	W	-	3	0	C6orf222	36406350	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.328000	0.19681	0.491000	0.27793	0.471000	0.43371	TGG		0.647	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		T	36298372	C	T	36298372	4	4	100	1	0	0	0	0	0	1	0	0	2358	624	22	2	1906	2	C6orf222	6	36298372	Nonsense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08		36298372	134816695	6	6513											
RSPH3	83861	broad.mit.edu	37	6	159420497	159420497	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:159420497C>T	ENST00000252655.1	-	1	701	c.512G>A	c.(511-513)cGc>cAc	p.R171H	RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000367069.2_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	171										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTAACGGCTGCGCTGGCAGGG	0.687																																																0													33	37	36					6																	159420497		1958	3987	5945	SO:0001583	missense	83861			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.512G>A	6.37:g.159420497C>T	ENSP00000252655:p.Arg171His		Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250218	0.95305	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.22134	2.07;1.97;2.14;2.06	5.25	5.25	0.73442	.	0.120206	0.64402	D	0.000018	T	0.24122	0.0584	L	0.34521	1.04	0.28250	N	0.925305	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	T	0.04017	-1.0984	10	0.87932	D	0	-25.034	14.3307	0.66553	0.0:1.0:0.0:0.0	.	171;171	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	H	29;29;171;171	ENSP00000356036:R29H;ENSP00000393195:R29H;ENSP00000252655:R171H;ENSP00000297262:R171H	ENSP00000252655:R171H	R	-	2	0	RSPH3	159340485	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.733000	0.55029	2.448000	0.82819	0.563000	0.77884	CGC		0.687	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		T	159420497	C	T	159420497	3	4	100	1	0	0	0	0	1	0	0	0	13711	768	27	1	1202	1	RSPH3	6	159420497	Missense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08	123122125	159420497	11694570	7	6514											
SLC12A9	56996	broad.mit.edu	37	7	100459450	100459451	+	Frame_Shift_Ins	INS	-	-	C	rs143756205	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:100459450_100459451insC	ENST00000354161.3	+	12	1753_1754	c.1628_1629insC	c.(1627-1632)ggcgccfs	p.A544fs	SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.A455fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.A455fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.A544fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.A544fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	544					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AACCCCCGGGGCGCCCTGCCTC	0.649																																																0																																										SO:0001589	frameshift_variant	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1629dupC	7.37:g.100459451_100459451dupC	ENSP00000275730:p.Ala544fs		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Frame_Shift_Ins	INS	ENST00000354161.3	37	CCDS5707.1																																																																																				0.649	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		C	100459451	-	C	100459450	7	5	100	1	0	1	1	0	0	0	0	0	14396	1203	42	0	1670	0	SLC12A9	7	100459450	Frame_Shift_Ins	INS	-	TCGA-AK-3440-01A-01D-0966-08		100459450	58679213	8	6515											
ASAP1	50807	broad.mit.edu	37	8	131127939	131127939	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:131127939C>T	ENST00000518721.1	-	23	2334	c.2107G>A	c.(2107-2109)Gta>Ata	p.V703I	ASAP1_ENST00000357668.1_Missense_Mutation_p.V703I	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	703					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCATATTCTACGTGGACGTGT	0.403																																																0													269	239	249					8																	131127939		2203	4300	6503	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2107G>A	8.37:g.131127939C>T	ENSP00000429900:p.Val703Ile		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803533|4.803533	0.90623|0.90623	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.07688	.|3.17;3.17	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Ankyrin repeat-containing domain (1);	.|0.119358	.|0.56097	.|D	.|0.000035	T|T	0.23289|0.23289	0.0563|0.0563	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63880	.|0.988;0.988;0.993	.|D;D;D	.|0.74023	.|0.97;0.97;0.982	T|T	0.00692|0.00692	-1.1607|-1.1607	5|10	.|0.26408	.|T	.|0.33	.|.	18.0242|18.0242	0.89263|0.89263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|703;703;706	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	H|I	523;116|706;703;703	.|ENSP00000350297:V703I;ENSP00000429900:V703I	.|ENSP00000344591:V706I	R|V	-|-	2|1	0|0	ASAP1|ASAP1	131197121|131197121	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.907000|0.907000	0.53573|0.53573	7.729000|7.729000	0.84864|0.84864	2.581000|2.581000	0.87130|0.87130	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.403	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		T	131127939	C	T	131127939	3	4	100	1	0	0	0	0	1	0	0	0	1010	536	19	1	1314	1	ASAP1	8	131127939	Missense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08		131127939	15236083	9	6516											
TRPM3	80036	broad.mit.edu	37	9	73206031	73206031	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:73206031C>G	ENST00000377111.2	-	21	3346	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1035Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1060					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGATGGCTCCTCATTGGGA	0.458																																																0													151	134	140					9																	73206031		2203	4300	6503	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3103G>C	9.37:g.73206031C>G	ENSP00000366315:p.Glu1035Gln		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.820181|2.820181	0.50633|0.50633	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	D;D;D;D;D;D;D;D;D;D;D|.	0.98474|.	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.052428|.	0.85682|.	D|.	0.000000|.	T|T	0.59797|0.59797	0.2220|0.2220	L|L	0.31804|0.31804	0.96|0.96	0.49389|0.49389	D|D	0.999786|0.999786	B;B;D;B;B;D;B;B|.	0.76494|.	0.185;0.058;0.987;0.221;0.11;0.999;0.317;0.182|.	B;B;P;B;B;D;B;B|.	0.68192|.	0.281;0.037;0.828;0.309;0.156;0.956;0.281;0.081|.	T|T	0.52403|0.52403	-0.8580|-0.8580	10|5	0.34782|.	T|.	0.22|.	-23.0749|-23.0749	19.9941|19.9941	0.97377|0.97377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1035;1035;1025;1039;897;894;1007;882|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	Q|A	1035;1035;907;897;894;1039;894;882;907;897;1062|883	ENSP00000366315:E1035Q;ENSP00000366314:E1035Q;ENSP00000366310:E907Q;ENSP00000354066:E897Q;ENSP00000366309:E894Q;ENSP00000350140:E1039Q;ENSP00000386127:E894Q;ENSP00000379581:E882Q;ENSP00000379587:E907Q;ENSP00000350791:E897Q;ENSP00000389542:E1062Q|.	ENSP00000350140:E1039Q|.	E|G	-|-	1|2	0|0	TRPM3|TRPM3	72395851|72395851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.735000|2.735000	0.93741|0.93741	0.637000|0.637000	0.83480|0.83480	GAG|GGA		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		G	73206031	C	G	73206031	3	3	100	1	0	0	0	0	1	0	0	0	16592	864	30	4	2040	4	TRPM3	9	73206031	Missense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08		73206031	68007400	10	6517											
ZNF79	7633	broad.mit.edu	37	9	130206998	130207012	+	In_Frame_Del	DEL	AGGCCTTCAGTTACT	AGGCCTTCAGTTACT	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	ENST00000342483.5	+	5	1425_1439	c.1019_1033delAGGCCTTCAGTTACT	c.(1018-1035)aaggccttcagttactgc>agc	p.340_345KAFSYC>S	ZNF79_ENST00000543471.1_In_Frame_Del_p.316_321KAFSYC>S|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	340				C -> G (in Ref. 4; CAA46339). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGTGTGGGAAGGCCTTCAGTTACTGCGCAGCGTT	0.577																																																0																																										SO:0001651	inframe_deletion	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1019_1033delAGGCCTTCAGTTACT	9.37:g.130206998_130207012delAGGCCTTCAGTTACT	ENSP00000362446:p.Lys340_Cys345delinsSer		Q5VVW1|Q96NV1	In_Frame_Del	DEL	ENST00000342483.5	37	CCDS6871.1																																																																																				0.577	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		-	130207012	AGGCCTTCAGTTACT	-	130206998	7	5	100	1	0	1	0	1	0	0	0	0	18166	72	3	0	1037	0	ZNF79	9	130206998	In_Frame_Del	DEL	AGGCCTTCAGTTACT	TCGA-AK-3440-01A-01D-0966-08	57000967	130206998	11006433	11	6518											
ZNF79	7633	broad.mit.edu	37	9	130207131	130207131	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130207131T>C	ENST00000342483.5	+	5	1558	c.1152T>C	c.(1150-1152)acT>acC	p.T384T	ZNF79_ENST00000543471.1_Silent_p.T360T|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGACTCACACTGGGGAGAAAC	0.547																																																0													74	71	72					9																	130207131		2203	4300	6503	SO:0001819	synonymous_variant	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1152T>C	9.37:g.130207131T>C			Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	CCDS6871.1																																																																																				0.547	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		C	130207131	T	C	130207131	2	2	100	1	0	0	0	0	0	0	0	1	18166	1567	55	3		3	ZNF79	9	130207131	Silent	SNP	T	TCGA-AK-3440-01A-01D-0966-08	133	130207131	11006300	12	6519	59	2									
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532																																																0													75	72	73					9																	130207140		2203	4300	6503	SO:0001819	synonymous_variant	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1161A>G	9.37:g.130207140A>G			Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	CCDS6871.1																																																																																				0.532	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		G	130207140	A	G	130207140	2	3	100	1	0	0	0	0	0	0	0	1	18166	40	2	3		3	ZNF79	9	130207140	Silent	SNP	A	TCGA-AK-3440-01A-01D-0966-08	9	130207140	11006291	13	6520	59	2									
ELP4	26610	broad.mit.edu	37	11	31616324	31616324	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:31616324C>T	ENST00000350638.5	+	4	424	c.389C>T	c.(388-390)cCa>cTa	p.P130L	ELP4_ENST00000379163.5_Missense_Mutation_p.P130L|ELP4_ENST00000395934.2_Missense_Mutation_p.P130L	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	130					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|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)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TAGGAACTTCCAGCACCATTA	0.284																																																0													66	63	64					11																	31616324		1808	4066	5874	SO:0001583	missense	26610			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.389C>T	11.37:g.31616324C>T	ENSP00000298937:p.Pro130Leu		B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021798	0.75275	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	D;D;D	0.83755	-1.76;-1.76;-1.76	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.91372	0.7278	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92248	0.5806	10	0.72032	D	0.01	-0.2929	12.3103	0.54925	0.0:0.9219:0.0:0.0781	.	130;130;130	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	L	130	ENSP00000298937:P130L;ENSP00000368461:P130L;ENSP00000379267:P130L	ENSP00000298937:P130L	P	+	2	0	ELP4	31572900	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.805000	0.62561	2.539000	0.85634	0.460000	0.39030	CCA		0.284	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		T	31616324	C	T	31616324	3	4	100	1	0	0	0	0	1	0	0	0	5084	594	21	2	403	2	ELP4	11	31616324	Missense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08		31616324	103390192	14	6521											
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																																0										3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436			U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC				RNA	INS	ENST00000261406.6	37																																																																																					0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	C	7080213	-	C	7080212	8	5	100	1	0	1	1	0	0	0	1	0	5092	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-AK-3440-01A-01D-0966-08		7080212	126771683	15	6522											
KIF5A	3798	broad.mit.edu	37	12	57972099	57972099	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57972099G>A	ENST00000455537.2	+	23	2786	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	838					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAACAACCTGGAACAGCTTAC	0.473																																																0													68	67	67					12																	57972099		2203	4300	6503	SO:0001583	missense	3798			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2512G>A	12.37:g.57972099G>A	ENSP00000408979:p.Glu838Lys		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631553	0.87660	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.86432	-2.12;-2.12	5.15	4.26	0.50523	.	0.246896	0.39544	N	0.001323	D	0.90724	0.7089	M	0.82323	2.585	0.41650	D	0.989126	P;P	0.41524	0.753;0.753	P;P	0.48400	0.576;0.489	D	0.91661	0.5342	10	0.52906	T	0.07	.	14.4704	0.67512	0.0:0.0:0.8515:0.1485	.	749;838	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	838;749	ENSP00000408979:E838K;ENSP00000286452:E749K	ENSP00000286452:E749K	E	+	1	0	KIF5A	56258366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	1.551000	0.49450	0.558000	0.71614	GAA		0.473	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		A	57972099	G	A	57972099	3	1	100	1	0	0	0	0	1	0	0	0	8307	1175	41	2	2602	2	KIF5A	12	57972099	Missense_Mutation	SNP	G	TCGA-AK-3440-01A-01D-0966-08	50891887	57972099	75879796	16	6523											
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																																0																																										SO:0001651	inframe_deletion	8848			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		-	45148708	TGC	-	45148706	7	5	100	1	0	1	0	1	0	0	0	0	16612	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-AK-3440-01A-01D-0966-08		45148706	70021172	17	6524											
SLITRK1	114798	broad.mit.edu	37	13	84454064	84454064	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr13:84454064G>A	ENST00000377084.2	-	1	2464	c.1579C>T	c.(1579-1581)Cac>Tac	p.H527Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	527					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)		GGGTTTCCGTGGAGGTCTATC	0.547																																																0													54	54	54					13																	84454064		2203	4300	6503	SO:0001583	missense	114798			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.1579C>T	13.37:g.84454064G>A	ENSP00000366288:p.His527Tyr		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383803	0.61845	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	N	0.25201	0.72	0.80722	D	1	B	0.22909	0.077	B	0.20955	0.032	T	0.12319	-1.0552	10	0.39692	T	0.17	-14.1358	17.693	0.88273	0.0:0.0:1.0:0.0	.	527	Q96PX8	SLIK1_HUMAN	Y	527	ENSP00000366288:H527Y	ENSP00000366288:H527Y	H	-	1	0	SLITRK1	83352065	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.872000	0.87187	2.603000	0.88011	0.655000	0.94253	CAC		0.547	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		A	84454064	G	A	84454064	3	1	100	1	0	0	0	0	1	0	0	0	14748	1348	47	2	515	2	SLITRK1	13	84454064	Missense_Mutation	SNP	G	TCGA-AK-3440-01A-01D-0966-08	39305358	84454064	30715814	18	6525											
GABRG3	2567	broad.mit.edu	37	15	27777970	27777970	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:27777970C>T	ENST00000333743.6	+	10	1601	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	449					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGTCTTTTTCCCCACGTCCT	0.473																																					NSCLC(114;800 1656 7410 37729 45293)											0													72	73	72					15																	27777970		1960	4147	6107	SO:0001819	synonymous_variant	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1347C>T	15.37:g.27777970C>T			G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	CCDS45195.1																																																																																				0.473	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			T	27777970	C	T	27777970	2	4	100	1	0	0	0	0	0	0	0	1	6175	854	30	2		2	GABRG3	15	27777970	Silent	SNP	C	TCGA-AK-3440-01A-01D-0966-08		27777970	74753422	19	6526											
HERC2	8924	broad.mit.edu	37	15	28491151	28491151	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:28491151G>A	ENST00000261609.7	-	23	3561	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTCTTGCATGAGACCAGCAT	0.423																																																0													102	89	94					15																	28491151		2203	4300	6503	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3453C>T	15.37:g.28491151G>A				Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28491151	G	A	28491151	2	1	100	1	0	0	0	0	0	0	0	1	7060	1277	45	2		2	HERC2	15	28491151	Silent	SNP	G	TCGA-AK-3440-01A-01D-0966-08	713181	28491151	74040241	20	6527											
ABCC11	85320	broad.mit.edu	37	16	48218462	48218462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:48218462C>A	ENST00000394747.1	-	22	3496	c.3147G>T	c.(3145-3147)agG>agT	p.R1049S	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGATCTCCAGCCTCAATGCCA	0.483																																																0													197	164	175					16																	48218462		2201	4300	6501	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3147G>T	16.37:g.48218462C>A	ENSP00000378230:p.Arg1049Ser		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465225	0.43839	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.57	-2.79	0.05841	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.293222	0.33938	N	0.004410	D	0.92789	0.7707	M	0.86651	2.83	0.23120	N	0.998267	B;D	0.57257	0.383;0.979	B;D	0.64506	0.151;0.926	D	0.87538	0.2457	10	0.66056	D	0.02	-14.9349	10.8349	0.46681	0.0:0.3676:0.0:0.6324	.	1049;1049	Q96J66-2;Q96J66	.;ABCCB_HUMAN	S	1049	ENSP00000311326:R1049S;ENSP00000349017:R1049S;ENSP00000378231:R1049S;ENSP00000378230:R1049S	ENSP00000311326:R1049S	R	-	3	2	ABCC11	46775963	0.005000	0.15991	0.178000	0.23040	0.224000	0.24922	-0.701000	0.05075	-0.360000	0.08138	0.563000	0.77884	AGG		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48218462	C	A	48218462	3	1	100	1	0	0	0	0	1	0	0	0	51	738	26	4	1033	4	ABCC11	16	48218462	Missense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08		48218462	42136291	21	6528	60	2									
ABCC11	85320	broad.mit.edu	37	16	48218463	48218463	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:48218463C>A	ENST00000394747.1	-	22	3495	c.3146G>T	c.(3145-3147)aGg>aTg	p.R1049M	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GATCTCCAGCCTCAATGCCAT	0.483																																																0													197	164	175					16																	48218463		2201	4300	6501	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3146G>T	16.37:g.48218463C>A	ENSP00000378230:p.Arg1049Met		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206115	0.39003	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.57	3.62	0.41486	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.293222	0.33938	N	0.004410	D	0.93785	0.8013	M	0.86651	2.83	0.27225	N	0.959569	D;D	0.71674	0.998;0.994	P;D	0.70487	0.891;0.969	D	0.87595	0.2493	10	0.66056	D	0.02	-14.9349	8.8685	0.35300	0.0:0.8275:0.0:0.1725	.	1049;1049	Q96J66-2;Q96J66	.;ABCCB_HUMAN	M	1049	ENSP00000311326:R1049M;ENSP00000349017:R1049M;ENSP00000378231:R1049M;ENSP00000378230:R1049M	ENSP00000311326:R1049M	R	-	2	0	ABCC11	46775964	0.185000	0.23213	0.204000	0.23530	0.229000	0.25112	1.868000	0.39509	0.720000	0.32209	0.563000	0.77884	AGG		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48218463	C	A	48218463	3	1	100	1	0	0	0	0	1	0	0	0	51	681	24	4	1034	4	ABCC11	16	48218463	Missense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08	1	48218463	42136290	22	6529	60	2									
TAT	6898	broad.mit.edu	37	16	71610149	71610149	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:71610149C>T	ENST00000355962.4	-	2	303	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	57					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CACAATGGCTCGGATGGGGTT	0.502																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											0													143	115	124					16																	71610149		2198	4300	6498	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.170G>A	16.37:g.71610149C>T	ENSP00000348234:p.Arg57Gln		B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828712	0.96996	.	.	ENSG00000198650	ENST00000355962	D	0.89196	-2.48	6.01	6.01	0.97437	Tyrosine aminotransferase (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.995;0.999	D	0.95818	0.8847	10	0.87932	D	0	-21.0816	20.5141	0.99211	0.0:1.0:0.0:0.0	.	57;57;57	Q8WW92;A1L4G7;P17735	.;.;ATTY_HUMAN	Q	57	ENSP00000348234:R57Q	ENSP00000348234:R57Q	R	-	2	0	TAT	70167650	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.850000	0.98022	0.655000	0.94253	CGA		0.502	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			T	71610149	C	T	71610149	3	4	100	1	0	0	0	0	1	0	0	0	15595	884	31	1	1238	1	TAT	16	71610149	Missense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08	23391686	71610149	18744604	23	6530											
MON1B	22879	broad.mit.edu	37	16	77228709	77228710	+	Frame_Shift_Ins	INS	-	-	G	rs374699775		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:77228709_77228710insG	ENST00000248248.3	+	4	1303_1304	c.953_954insG	c.(952-957)gcgggtfs	p.AG318fs	MON1B_ENST00000439557.2_Frame_Shift_Ins_p.AG209fs|MON1B_ENST00000545553.1_Frame_Shift_Ins_p.AG172fs|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	318										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCTTTGCGGCGGGTGAGGCTT	0.634																																																0																																										SO:0001589	frameshift_variant	22879			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.956dupG	16.37:g.77228712_77228712dupG	ENSP00000248248:p.Ala318fs		B4DDZ0|O94949	Frame_Shift_Ins	INS	ENST00000248248.3	37	CCDS10925.1																																																																																				0.634	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		G	77228710	-	G	77228709	7	5	100	1	0	1	1	0	0	0	0	0	9701	768	27	0	963	0	MON1B	16	77228709	Frame_Shift_Ins	INS	-	TCGA-AK-3440-01A-01D-0966-08	5618560	77228709	13126044	24	6531											
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:7579699C>A	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*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)	CTTGTCCTTACCAGAACGTTG	0.597		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)											41	42	42					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.96+1G>T	17.37:g.7579699C>A			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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297523	0.81025	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7579699	C	A	7579699	5	1	100	1	0	0	0	0	0	0	1	0	16386	521	18	4	1209	4	TP53	17	7579699	Splice_Site	SNP	C	TCGA-AK-3440-01A-01D-0966-08		7579699	73615511	25	6532											
DUSP3	1845	broad.mit.edu	37	17	41852151	41852152	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:41852151_41852152delTG	ENST00000226004.3	-	2	343_344	c.280_281delCA	c.(280-282)cagfs	p.Q94fs	DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs|DUSP3_ENST00000591618.1_5'Flank	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	94					in utero embryonic development (GO:0001701)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of JNK cascade (GO:0046329)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of mitotic cell cycle (GO:0045931)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GTTGAACTCCTGTGTGTCGTTG	0.535																																					Esophageal Squamous(114;1511 1593 4801 6912 51717)											0																																										SO:0001589	frameshift_variant	1845			BC035701	CCDS11469.1	17q21	2011-06-09	2008-02-04			ENSG00000108861		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3069	protein-coding gene	gene with protein product		600183	"vaccinia virus phosphatase VH1-related"	VHR		7829094	Standard	NM_004090		Approved		uc002ied.4	P51452		ENST00000226004.3:c.280_281delCA	17.37:g.41852155_41852156delTG	ENSP00000226004:p.Gln94fs		D3DX45|Q5U0J1|Q8IYJ9	Frame_Shift_Del	DEL	ENST00000226004.3	37	CCDS11469.1																																																																																				0.535	DUSP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453503.1	NM_004090		-	41852152	TG	-	41852151	7	5	100	1	0	1	0	1	0	0	0	0	4828	1580	55	0	284	0	DUSP3	17	41852151	Frame_Shift_Del	DEL	TG	TCGA-AK-3440-01A-01D-0966-08	34272452	41852151	39343059	26	6533											
LRP3	4037	broad.mit.edu	37	19	33696466	33696467	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:33696466_33696467insC	ENST00000253193.7	+	5	992_993	c.790_791insC	c.(790-792)tccfs	p.S264fs	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	264	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTTCTACGGCTCCTTTGCCTCC	0.723																																																0										73,3711		3,67,1822						4.6	1			9	119,7515		6,107,3704	no	frameshift	LRP3	NM_002333.3		9,174,5526	A1A1,A1R,RR		1.5588,1.9292,1.6816				192,11226				SO:0001589	frameshift_variant	4037			AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.792dupC	19.37:g.33696468_33696468dupC	ENSP00000253193:p.Ser264fs		B3KQD6|B4DKF2	Frame_Shift_Ins	INS	ENST00000253193.7	37	CCDS12430.1																																																																																				0.723	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			C	33696467	-	C	33696466	7	5	100	1	0	1	1	0	0	0	0	0	8960	1551	54	0	808	0	LRP3	19	33696466	Frame_Shift_Ins	INS	-	TCGA-AK-3440-01A-01D-0966-08		33696466	25432517	27	6534											
LTBP4	8425	broad.mit.edu	37	19	41133075	41133075	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:41133075G>A	ENST00000308370.7	+	32	4379	c.4379G>A	c.(4378-4380)cGc>cAc	p.R1460H	LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1461	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTTCGCCCGCCGGGAGGCT	0.657																																																0													14	21	19					19																	41133075		1922	4104	6026	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4379G>A	19.37:g.41133075G>A	ENSP00000311905:p.Arg1460His		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761988	0.69763	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;D;T;T	0.83506	-1.38;-1.73;-1.39;-1.37	4.71	4.71	0.59529	.	0.221145	0.23317	N	0.049498	D	0.85008	0.5599	.	.	.	0.33197	D	0.551592	D;D;P;D;D;D	0.71674	0.986;0.986;0.955;0.975;0.975;0.998	P;P;B;P;P;P	0.54270	0.674;0.674;0.379;0.474;0.474;0.747	D	0.87226	0.2257	9	0.33940	T	0.23	.	13.034	0.58859	0.0:0.0:1.0:0.0	.	221;473;681;1393;1461;1423	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	H	1423;828;1460;1393;221	ENSP00000204005:R1423H;ENSP00000441054:R828H;ENSP00000311905:R1460H;ENSP00000380031:R1393H	ENSP00000204005:R1423H	R	+	2	0	LTBP4	45824915	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.191000	0.42640	2.441000	0.82636	0.563000	0.77884	CGC		0.657	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		A	41133075	G	A	41133075	3	1	100	1	0	0	0	0	1	0	0	0	9078	1087	38	1	4796	1	LTBP4	19	41133075	Missense_Mutation	SNP	G	TCGA-AK-3440-01A-01D-0966-08	7436609	41133075	17995908	28	6535											
BCL2L12	83596	broad.mit.edu	37	19	50169227	50169227	+	Silent	SNP	G	G	A	rs201895036	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:50169227G>A	ENST00000246785.3	+	1	405	c.147G>A	c.(145-147)gtG>gtA	p.V49V	IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|BCL2L12_ENST00000441864.2_Silent_p.V49V|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|BCL2L12_ENST00000246784.3_Silent_p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	49					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGGCCCAGTGCGCAGGCGCG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		14839	0.002		0.0	False		,,,				2504	0.0															0													21	22	21					19																	50169227		2202	4300	6502	SO:0001819	synonymous_variant	83596			AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.147G>A	19.37:g.50169227G>A			Q3SY11|Q3SY13|Q96I96|Q9HB08	Silent	SNP	ENST00000246785.3	37	CCDS12776.1																																																																																				0.617	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		A	50169227	G	A	50169227	2	1	100	1	0	0	0	0	0	0	0	1	1370	1306	46	2		2	BCL2L12	19	50169227	Silent	SNP	G	TCGA-AK-3440-01A-01D-0966-08	9036152	50169227	8959756	29	6536											
ZNF628	89887	broad.mit.edu	37	19	55993042	55993042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:55993042delC	ENST00000598519.1	+	3	1035	c.482delC	c.(481-483)tccfs	p.S162fs	ZNF628_ENST00000391718.2_Frame_Shift_Del_p.S158fs			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	162					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGAACTCGTCCAGCCTGCGG	0.662																																																0													29	29	29					19																	55993042		2203	4298	6501	SO:0001589	frameshift_variant	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.482delC	19.37:g.55993042delC	ENSP00000469591:p.Ser162fs		Q86X34	Frame_Shift_Del	DEL	ENST00000598519.1	37	CCDS33116.3																																																																																				0.662	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		-	55993042	C	-	55993042	7	5	100	1	0	1	0	1	0	0	0	0	18057	855	30	0	472	0	ZNF628	19	55993042	Frame_Shift_Del	DEL	C	TCGA-AK-3440-01A-01D-0966-08	5823815	55993042	3135941	30	6537											
CST9L	128821	broad.mit.edu	37	20	23545640	23545640	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:23545640G>A	ENST00000376979.3	-	3	687	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	130						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTCATCCAGGGCCTGGTGCT	0.552																																																0													157	137	144					20																	23545640		2203	4300	6503	SO:0001583	missense	128821				CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"cystatin 9 (mouse)-like"			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.389C>T	20.37:g.23545640G>A	ENSP00000366178:p.Pro130Leu		B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034087	0.35893	.	.	ENSG00000101435	ENST00000376979	T	0.30182	1.54	1.74	1.74	0.24563	Proteinase inhibitor I25, cystatin (2);	0.212825	0.24067	N	0.041855	T	0.53594	0.1806	M	0.87381	2.88	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.34403	-0.9830	10	0.87932	D	0	.	6.9494	0.24536	0.0:0.0:1.0:0.0	.	130	Q9H4G1	CST9L_HUMAN	L	130	ENSP00000366178:P130L	ENSP00000366178:P130L	P	-	2	0	CST9L	23493640	0.525000	0.26290	0.058000	0.19502	0.007000	0.05969	2.709000	0.47160	1.262000	0.44165	0.305000	0.20034	CCC		0.552	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		A	23545640	G	A	23545640	3	1	100	1	0	0	0	0	1	0	0	0	3982	1232	43	2	58	2	CST9L	20	23545640	Missense_Mutation	SNP	G	TCGA-AK-3440-01A-01D-0966-08		23545640	39479880	31	6538											
GEMIN8	54960	broad.mit.edu	37	X	14038421	14038421	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:14038421C>A	ENST00000380523.4	-	4	566	c.248G>T	c.(247-249)tGg>tTg	p.W83L	GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	83					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GTAGTCCTGCCAGGCCACATG	0.488																																																0													141	126	131					X																	14038421		2203	4300	6503	SO:0001583	missense	54960			BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"family with sequence similarity 51, member A1"	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.248G>T	X.37:g.14038421C>A	ENSP00000369895:p.Trp83Leu		C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	c	2.299	-0.360714	0.05103	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T	0.39787	1.06;1.06	5.28	1.45	0.22620	.	1.533280	0.03118	N	0.163405	T	0.35856	0.0946	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17776	-1.0358	10	0.13853	T	0.58	.	8.6807	0.34207	0.0:0.1669:0.5092:0.324	.	83	Q9NWZ8	GEMI8_HUMAN	L	83	ENSP00000369895:W83L;ENSP00000381398:W83L	ENSP00000369894:W83L	W	-	2	0	GEMIN8	13948342	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.653000	0.24902	-0.127000	0.11661	-0.199000	0.12753	TGG		0.488	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		A	14038421	C	A	14038421	3	1	100	1	0	0	0	0	1	0	0	0	6336	595	21	4	488	4	GEMIN8	23	14038421	Missense_Mutation	SNP	C	TCGA-AK-3440-01A-01D-0966-08		14038421	141232139	32	6539											
BMP10	27302	broad.mit.edu	37	2	69093688	69093688	+	Missense_Mutation	SNP	G	G	A	rs141935259		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr2:69093688G>A	ENST00000295379.1	-	2	508	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	117					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.P117L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AAAACTGACCGGCTGGGAAAA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20428	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	endometrium(1)						G	LEU/PRO	1,4401		0,1,2200	28	30	29		350	5.9	1	2	dbSNP_134	29	0,8592		0,0,4296	yes	missense	BMP10	NM_014482.1	98	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign	117/425	69093688	1,12993	2201	4296	6497	SO:0001583	missense	27302			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.350C>T	2.37:g.69093688G>A	ENSP00000295379:p.Pro117Leu		Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	CCDS1890.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.49	1.653907	0.29425	2.27E-4	0.0	ENSG00000163217	ENST00000295379	T	0.73363	-0.74	5.94	5.94	0.96194	Transforming growth factor-beta, N-terminal (1);	0.254934	0.42682	D	0.000674	T	0.69142	0.3078	L	0.50333	1.59	0.48452	D	0.999655	B	0.28026	0.198	B	0.28784	0.094	T	0.64732	-0.6338	10	0.07990	T	0.79	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	117	O95393	BMP10_HUMAN	L	117	ENSP00000295379:P117L	ENSP00000295379:P117L	P	-	2	0	BMP10	68947192	0.993000	0.37304	0.994000	0.49952	0.632000	0.37999	2.843000	0.48238	2.812000	0.96745	0.557000	0.71058	CCG		0.428	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		A	69093688	G	A	69093688	3	1	101	1	0	0	0	0	1	0	0	0	1457	1116	39	1	928	1	BMP10	2	69093688	Missense_Mutation	SNP	G	TCGA-AK-3443-01A-01D-0966-08		69093688	174105685	1	6540											
ANO10	55129	broad.mit.edu	37	3	43642047	43642047	+	Silent	SNP	A	A	G			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr3:43642047A>G	ENST00000292246.3	-	3	336	c.166T>C	c.(166-168)Tta>Cta	p.L56L	ANO10_ENST00000396091.3_Intron|ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000414522.2_Silent_p.L56L	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	56					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TATTTATTTAACAATGGTCTA	0.318																																																0													84	83	83					3																	43642047		2203	4297	6500	SO:0001819	synonymous_variant	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.166T>C	3.37:g.43642047A>G			A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Silent	SNP	ENST00000292246.3	37	CCDS2710.2																																																																																				0.318	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		G	43642047	A	G	43642047	2	3	101	1	0	0	0	0	0	0	0	1	696	40	2	3		3	ANO10	3	43642047	Silent	SNP	A	TCGA-AK-3443-01A-01D-0966-08		43642047	154380383	2	6541											
PCDHB3	56132	broad.mit.edu	37	5	140482593	140482593	+	Missense_Mutation	SNP	C	C	A	rs376214907		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr5:140482593C>A	ENST00000231130.2	+	1	2360	c.2360C>A	c.(2359-2361)cCc>cAc	p.P787H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	787					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCAAATCCCAGTTTCAGG	0.453																																																0													108	112	111					5																	140482593		2203	4300	6503	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2360C>A	5.37:g.140482593C>A	ENSP00000231130:p.Pro787His		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118179	0.37339	.	.	ENSG00000113205	ENST00000231130	T	0.13778	2.56	3.34	0.258	0.15578	.	.	.	.	.	T	0.19287	0.0463	M	0.87758	2.905	0.09310	N	1	P	0.37158	0.585	B	0.40066	0.318	T	0.26503	-1.0101	9	0.56958	D	0.05	.	1.296	0.02070	0.1566:0.3251:0.3084:0.2098	.	787	Q9Y5E6	PCDB3_HUMAN	H	787	ENSP00000231130:P787H	ENSP00000231130:P787H	P	+	2	0	PCDHB3	140462777	0.001000	0.12720	0.000000	0.03702	0.670000	0.39368	0.808000	0.27154	-0.250000	0.09555	0.491000	0.48974	CCC		0.453	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		A	140482593	C	A	140482593	3	1	101	1	0	0	0	0	1	0	0	0	11545	623	22	4	2362	4	PCDHB3	5	140482593	Missense_Mutation	SNP	C	TCGA-AK-3443-01A-01D-0966-08		140482593	40432667	3	6542											
KIAA0408	9729	broad.mit.edu	37	6	127768325	127768329	+	Frame_Shift_Del	DEL	TTCTG	TTCTG	-			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr6:127768325_127768329delTTCTG	ENST00000483725.3	-	5	1471_1475	c.1135_1139delCAGAA	c.(1135-1140)cagaaafs	p.QK379fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	379										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AGAGCAGGTTTTCTGAAACCACGAA	0.434																																																0																																										SO:0001589	frameshift_variant	9729			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1135_1139delCAGAA	6.37:g.127768325_127768329delTTCTG	ENSP00000435150:p.Gln379fs		B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	ENST00000483725.3	37	CCDS34531.1																																																																																				0.434	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		-	127768329	TTCTG	-	127768325	7	5	101	1	0	1	0	1	0	0	0	0	8176	1841	64	0	953	0	KIAA0408	6	127768325	Frame_Shift_Del	DEL	TTCTG	TCGA-AK-3443-01A-01D-0966-08		127768325	43346742	4	6543											
TNKS	8658	broad.mit.edu	37	8	9413576	9413577	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr8:9413576_9413577insC	ENST00000310430.6	+	1	153_154	c.127_128insC	c.(127-129)accfs	p.T43fs	TNKS_ENST00000522110.1_Frame_Shift_Ins_p.T43fs|TNKS_ENST00000520408.1_Frame_Shift_Ins_p.T43fs|RP11-375N15.2_ENST00000607598.1_RNA	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	43					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GGCCCCGGGGACCACCCCAGCC	0.748																																																0																																										SO:0001589	frameshift_variant	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.129dupC	8.37:g.9413578_9413578dupC	ENSP00000311579:p.Thr43fs		O95272|Q4G0F2	Frame_Shift_Ins	INS	ENST00000310430.6	37	CCDS5974.1																																																																																				0.748	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		C	9413577	-	C	9413576	7	5	101	1	0	1	1	0	0	0	0	0	16324	275	10	0	129	0	TNKS	8	9413576	Frame_Shift_Ins	INS	-	TCGA-AK-3443-01A-01D-0966-08		9413576	136950446	5	6544											
LZTS1	11178	broad.mit.edu	37	8	20107349	20107349	+	Missense_Mutation	SNP	G	G	A	rs146878421		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr8:20107349G>A	ENST00000381569.1	-	4	2032	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C	LZTS1_ENST00000522290.1_Missense_Mutation_p.R500C|LZTS1_ENST00000265801.6_Missense_Mutation_p.R559C			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	559					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TTCTCCAGGCGCTGGTTCCGC	0.617																																																0									CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	99	100	99		1675	3	1	8	dbSNP_134	99	0,8600		0,0,4300	no	missense	LZTS1	NM_021020.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	559/597	20107349	2,13004	2203	4300	6503	SO:0001583	missense	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1675C>T	8.37:g.20107349G>A	ENSP00000370981:p.Arg559Cys		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	g	18.29	3.590508	0.66219	4.54E-4	0.0	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.45668	0.89;0.89;0.89	5.06	3.04	0.35103	.	0.769309	0.12807	N	0.437503	T	0.28995	0.0720	N	0.12182	0.205	0.39023	D	0.959772	D;B	0.64830	0.994;0.068	P;B	0.49953	0.627;0.012	T	0.09862	-1.0655	10	0.41790	T	0.15	-24.3382	4.2396	0.10642	0.094:0.1261:0.5852:0.1947	.	500;559	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	C	559;559;500;536	ENSP00000370981:R559C;ENSP00000265801:R559C;ENSP00000429263:R500C	ENSP00000265801:R559C	R	-	1	0	LZTS1	20151629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.447000	0.44917	1.126000	0.42016	0.556000	0.70494	CGC		0.617	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		A	20107349	G	A	20107349	3	1	101	1	0	0	0	0	1	0	0	0	9140	1087	38	1	119	1	LZTS1	8	20107349	Missense_Mutation	SNP	G	TCGA-AK-3443-01A-01D-0966-08	10693773	20107349	126256673	6	6545											
CHRM4	1132	broad.mit.edu	37	11	46407118	46407118	+	Silent	SNP	C	C	T	rs201888287		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr11:46407118C>T	ENST00000433765.2	-	1	989	c.990G>A	c.(988-990)ccG>ccA	p.P330P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	330					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGAGGGCCCGCGGCTGCAGGG	0.637																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)											0										1,4179		0,1,2089	127	145	139		990	-5.1	0.6	11		139	1,8407		0,1,4203	no	coding-synonymous	CHRM4	NM_000741.2		0,2,6292	TT,TC,CC		0.0119,0.0239,0.0159		330/480	46407118	2,12586	2090	4204	6294	SO:0001819	synonymous_variant	1132			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.990G>A	11.37:g.46407118C>T			B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	CCDS44581.1																																																																																				0.637	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		T	46407118	C	T	46407118	2	4	101	1	0	0	0	0	0	0	0	1	3381	755	27	1		1	CHRM4	11	46407118	Silent	SNP	C	TCGA-AK-3443-01A-01D-0966-08		46407118	88599398	7	6546											
C12orf43	64897	broad.mit.edu	37	12	121442108	121442109	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	e9f65a55-337b-4a82-a85a-b0f9a68f599d	g.chr12:121442108_121442109insG	ENST00000288757.3	-	6	658_659	c.636_637insC	c.(634-639)cccaccfs	p.T213fs	C12orf43_ENST00000366211.2_Frame_Shift_Ins_p.T172fs|C12orf43_ENST00000537817.1_Frame_Shift_Ins_p.T214fs|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000539736.1_Frame_Shift_Ins_p.T203fs|C12orf43_ENST00000445832.3_Frame_Shift_Ins_p.T183fs	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	213	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCATGCTGGTGGGGGTGGTGG	0.55																																																0																																										SO:0001589	frameshift_variant	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.637dupC	12.37:g.121442113_121442113dupG	ENSP00000288757:p.Thr213fs		Q53HF0|Q9H9Z7	Frame_Shift_Ins	INS	ENST00000288757.3	37	CCDS9210.1																																																																																				0.55	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		G	121442109	-	G	121442108	7	5	101	1	0	1	1	0	0	0	0	0	1691	1696	59	0	155	0	C12orf43	12	121442108	Frame_Shift_Ins	INS	-	TCGA-AK-3443-01A-01D-0966-08		121442108	12409787	8	6547											
SOS2	6655	broad.mit.edu	37	14	50626628	50626628	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr14:50626628T>C	ENST00000216373.5	-	10	1647	c.1373A>G	c.(1372-1374)cAt>cGt	p.H458R	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.H425R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	458	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAGAAAAATATGCCGTTCATG	0.388																																																0													185	175	178					14																	50626628		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1373A>G	14.37:g.50626628T>C	ENSP00000216373:p.His458Arg		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102691	0.37145	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.75367	-0.93;-0.93	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	L	0.54908	1.71	0.80722	D	1	B;B;B	0.24651	0.025;0.108;0.028	B;B;B	0.23852	0.035;0.049;0.037	T	0.65734	-0.6096	10	0.24483	T	0.36	.	15.7129	0.77644	0.0:0.0:0.0:1.0	.	425;488;458	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	R	458;425	ENSP00000216373:H458R;ENSP00000445328:H425R	ENSP00000216373:H458R	H	-	2	0	SOS2	49696378	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.964000	0.87933	2.111000	0.64477	0.528000	0.53228	CAT		0.388	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			C	50626628	T	C	50626628	3	2	101	1	0	0	0	0	1	0	0	0	14943	1464	51	3	2681	3	SOS2	14	50626628	Missense_Mutation	SNP	T	TCGA-AK-3443-01A-01D-0966-08		50626628	56722912	9	6548											
HS3ST2	9956	broad.mit.edu	37	16	22826356	22826356	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:22826356C>T	ENST00000261374.3	+	1	859	c.425C>T	c.(424-426)gCc>gTc	p.A142V		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	142					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GACGTGCGGGCCTTGGGCACG	0.647																																																0													19	24	22					16																	22826356		2163	4254	6417	SO:0001583	missense	9956			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.425C>T	16.37:g.22826356C>T	ENSP00000261374:p.Ala142Val		Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322799	0.95708	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	D	0.83419	-1.72	5.12	5.12	0.69794	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89887	0.6845	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.90118	0.4197	10	0.51188	T	0.08	.	17.1279	0.86719	0.0:1.0:0.0:0.0	.	142	Q9Y278	HS3S2_HUMAN	V	142;150	ENSP00000261374:A142V	ENSP00000261374:A142V	A	+	2	0	HS3ST2	22733857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.308000	0.78929	2.363000	0.80096	0.655000	0.94253	GCC		0.647	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		T	22826356	C	T	22826356	3	4	101	1	0	0	0	0	1	0	0	0	7366	739	26	2	427	2	HS3ST2	16	22826356	Missense_Mutation	SNP	C	TCGA-AK-3443-01A-01D-0966-08		22826356	67528397	10	6549											
PKD1L2	114780	broad.mit.edu	37	16	81190482	81190482	+	RNA	SNP	G	G	A	rs375515044		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr16:81190482G>A	ENST00000525539.1	-	0	4106				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATCCTGAGCGTCCTTCCTCC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19594	0.0		0.0	False		,,,				2504	0.0															0								G		1,4339		0,1,2169	57	59	59		4107	-5.2	0.2	16		59	0,8538		0,0,4269	no	coding-synonymous	PKD1L2	NM_052892.3		0,1,6438	AA,AG,GG		0.0,0.023,0.0078		1369/2460	81190482	1,12877	2170	4269	6439			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81190482G>A			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																					0.547	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81190482	G	A	81190482	1	1	101	0	1	0	0	0	0	0	0	0	11967	1136	40	1		1	PKD1L2	16	81190482	RNA	SNP	G	TCGA-AK-3443-01A-01D-0966-08	58364126	81190482	9164271	11	6550											
GPS1	2873	broad.mit.edu	37	17	80014617	80014617	+	Missense_Mutation	SNP	G	G	A	rs371322935		TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr17:80014617G>A	ENST00000306823.6	+	11	1264	c.1241G>A	c.(1240-1242)aGt>aAt	p.S414N	GPS1_ENST00000320548.4_Missense_Mutation_p.S394N|GPS1_ENST00000355130.2_Missense_Mutation_p.S450N|GPS1_ENST00000578552.1_Missense_Mutation_p.S410N|GPS1_ENST00000392358.2_Missense_Mutation_p.S450N			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	414	PCI.				cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGGCTGATCAGTGCCCGTGTG	0.657																																																0								G	ASN/SER,ASN/SER	1,4387		0,1,2193	23	23	23		1349,1241	3	1	17		23	0,8598		0,0,4299	no	missense,missense	GPS1	NM_212492.1,NM_004127.4	46,46	0,1,6492	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	450/528,414/492	80014617	1,12985	2194	4299	6493	SO:0001583	missense	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.1241G>A	17.37:g.80014617G>A	ENSP00000302873:p.Ser414Asn		Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	g	5.159	0.214954	0.09810	2.28E-4	0.0	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	T;T;T	0.29397	1.57;1.57;1.57	4.09	3.01	0.34805	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.050099	0.85682	N	0.000000	T	0.14917	0.0360	N	0.12637	0.245	0.26831	N	0.96858	B;B;B;B;B;B	0.13145	0.0;0.001;0.007;0.0;0.0;0.001	B;B;B;B;B;B	0.14578	0.003;0.002;0.011;0.003;0.002;0.001	T	0.24119	-1.0169	10	0.17369	T	0.5	-20.7986	8.7285	0.34485	0.906:0.0:0.094:0.0	.	406;449;399;410;414;450	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	N	450;400;414;450	ENSP00000376167:S450N;ENSP00000302873:S414N;ENSP00000347251:S450N	ENSP00000302873:S414N	S	+	2	0	GPS1	77607906	1.000000	0.71417	0.995000	0.50966	0.079000	0.17450	5.619000	0.67729	0.643000	0.30638	-0.389000	0.06534	AGT		0.657	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		A	80014617	G	A	80014617	3	1	101	1	0	0	0	0	1	0	0	0	6734	1029	36	2	1440	2	GPS1	17	80014617	Missense_Mutation	SNP	G	TCGA-AK-3443-01A-01D-0966-08		80014617	1180593	12	6551											
MTMR3	8897	broad.mit.edu	37	22	30384486	30384486	+	Missense_Mutation	SNP	A	A	G	rs541335763	byFrequency	TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:30384486A>G	ENST00000401950.2	+	6	570	c.228A>G	c.(226-228)atA>atG	p.I76M	MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M|MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000333027.3_Missense_Mutation_p.I76M	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	76					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TACAGCTTATAGAAAGTGTTG	0.358																																																0													140	132	134					22																	30384486		2202	4300	6502	SO:0001583	missense	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.228A>G	22.37:g.30384486A>G	ENSP00000384651:p.Ile76Met		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216789	0.58452	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000445401;ENST00000351488;ENST00000406629	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.84	3.65	0.41850	.	0.084898	0.85682	D	0.000000	D	0.88698	0.6507	L	0.48174	1.505	0.80722	D	1	P;P;P	0.51653	0.851;0.947;0.851	P;P;P	0.55615	0.58;0.78;0.58	D	0.86003	0.1496	10	0.56958	D	0.05	.	6.9832	0.24713	0.5173:0.1248:0.0:0.3578	.	76;76;76	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	M	76	ENSP00000384651:I76M;ENSP00000331649:I76M;ENSP00000409063:I76M;ENSP00000307271:I76M;ENSP00000384077:I76M	ENSP00000331649:I76M	I	+	3	3	MTMR3	28714486	0.990000	0.36364	1.000000	0.80357	0.999000	0.98932	0.312000	0.19397	0.414000	0.25790	0.528000	0.53228	ATA		0.358	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		G	30384486	A	G	30384486	3	3	101	1	0	0	0	0	1	0	0	0	9947	410	15	3	242	3	MTMR3	22	30384486	Missense_Mutation	SNP	A	TCGA-AK-3443-01A-01D-0966-08		30384486	20920080	13	6552											
PLA2G6	8398	broad.mit.edu	37	22	38536025	38536025	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3443-01A-01D-0966-08	TCGA-AK-3443-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc72bb8-02a6-41b1-a6d6-5c275a82f89b	b5d14d5a-4207-450e-9edb-106ab50ecbc7	g.chr22:38536025T>G	ENST00000332509.3	-	5	944	c.761A>C	c.(760-762)tAc>tCc	p.Y254S	PLA2G6_ENST00000335539.3_Missense_Mutation_p.Y254S|PLA2G6_ENST00000402064.1_Missense_Mutation_p.Y254S	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	254					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.Y254S(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GTGGATGGGGTAGCCGTTGGG	0.642																																																1	Substitution - Missense(1)	kidney(1)											42	44	43					22																	38536025		2203	4300	6503	SO:0001583	missense	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.761A>C	22.37:g.38536025T>G	ENSP00000333142:p.Tyr254Ser		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.93|17.93	3.510203|3.510203	0.64522|0.64522	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000427453;ENST00000452542|ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860	.|T;T;T	.|0.52754	.|0.65;0.65;0.65	5.69|5.69	2.22|2.22	0.28083|0.28083	.|Ankyrin repeat-containing domain (3);	.|0.238004	.|0.44483	.|D	.|0.000445	T|T	0.25158|0.25158	0.0611|0.0611	N|N	0.13371|0.13371	0.34|0.34	0.80722|0.80722	D|D	1|1	.|P;B	.|0.41188	.|0.741;0.159	.|B;B	.|0.39258	.|0.295;0.13	T|T	0.02588|0.02588	-1.1137|-1.1137	5|10	.|0.22109	.|T	.|0.4	-21.5899|-21.5899	6.4119|6.4119	0.21696|0.21696	0.2508:0.0674:0.0:0.6819|0.2508:0.0674:0.0:0.6819	.|.	.|254;254	.|O60733-2;O60733	.|.;PA2G6_HUMAN	P|S	6;85|254;115;254;254;182;254	.|ENSP00000333142:Y254S;ENSP00000335149:Y254S;ENSP00000386100:Y254S	.|ENSP00000333142:Y254S	T|Y	-|-	1|2	0|0	PLA2G6|PLA2G6	36865971|36865971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	2.138000|2.138000	0.42140|0.42140	0.402000|0.402000	0.25451|0.25451	0.459000|0.459000	0.35465|0.35465	ACC|TAC		0.642	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		G	38536025	T	G	38536025	3	3	101	1	0	0	0	0	1	0	0	0	12010	1638	57	5	1711	5	PLA2G6	22	38536025	Missense_Mutation	SNP	T	TCGA-AK-3443-01A-01D-0966-08	8151539	38536025	12768541	14	6553											
VHL	7428	hgsc.bcm.edu	37	3	10183817	10183817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3445-01A-02W-1359-10	TCGA-AK-3445-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	e787f715-4ee4-406a-aba0-f83a2c48726f	1dbf1726-2813-45cc-b2d5-7f57d57a1028	g.chr3:10183817C>T	ENST00000256474.2	+	1	1126	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	VHL_ENST00000345392.2_Nonsense_Mutation_p.Q96*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	96			Missing (in VHLD; type I).|Q -> P (in VHLD; type I). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q96*(7)|p.P95_P99del(1)|p.E94fs*62(1)|p.R60fs*35(1)|p.E94fs*34(1)|p.Q96fs*36(1)|p.Q96del(1)|p.Q96fs*63(1)|p.P95fs*59(1)|p.Q96fs*61(1)|p.Q96fs*65(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGGCGAGCCGCAGCCCTACCC	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Substitution - Nonsense(7)|Deletion - Frameshift(6)|Deletion - In frame(2)|Insertion - Frameshift(2)	kidney(16)|soft_tissue(1)	GRCh37	CM982002	VHL	M							13	15	14					3																	10183817		1792	3692	5484	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.286C>T	3.37:g.10183817C>T	ENSP00000256474:p.Gln96*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	36	5.615161	0.96649	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.16	4.19	0.49359	.	0.335703	0.32055	N	0.006651	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7234	14.0258	0.64584	0.1615:0.8385:0.0:0.0	.	.	.	.	X	96	.	ENSP00000256474:Q96X	Q	+	1	0	VHL	10158817	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.360000	0.44151	2.416000	0.81992	0.550000	0.68814	CAG		0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183817	C	T	10183817	4	4	102	1	0	0	0	0	0	1	0	0	17167	711	25	2	288	2	VHL	3	10183817	Nonsense_Mutation	SNP	C	TCGA-AK-3445-01A-02W-1359-10		10183817	187838613	1	6554											
VHL	7428	hgsc.bcm.edu	37	3	10183873	10183873	+	Splice_Site	SNP	T	T	C			TCGA-AK-3450-01A-02W-1359-10	TCGA-AK-3450-10A-01D-1361-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	ea3eb63e-3ce6-4865-8c38-1e20a4fba26e	309f8d72-a55d-4b31-bd5a-18a624cf2347	g.chr3:10183873T>C	ENST00000256474.2	+	1	1180		c.e1+2		snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(6)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCTACCGAGGTACGGGCCCGG	0.701		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	6	Unknown(6)	kidney(5)|pancreas(1)	GRCh37	CD983001	VHL	D							9	10	10					3																	10183873		1857	3831	5688	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.340+2T>C	3.37:g.10183873T>C			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685452	0.68157	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	5.08	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3427	0.32254	0.0:0.093:0.0:0.907	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10158873	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.955000	0.63638	1.927000	0.55829	0.393000	0.25936	.		0.701	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	C	10183873	T	C	10183873	5	2	103	1	0	0	0	0	0	0	1	0	17167	1652	57	3	344	3	VHL	3	10183873	Splice_Site	SNP	T	TCGA-AK-3450-01A-02W-1359-10		10183873	187838557	1	6555											
ZMYM1	79830	broad.mit.edu;hgsc.bcm.edu	37	1	35578967	35578967	+	Silent	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:35578967G>A	ENST00000373330.1	+	11	1710	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K	ZMYM1_ENST00000359858.4_Silent_p.K512K|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	512						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K512N(1)|p.K512K(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATTCAGAAAGCATGAAAAAA	0.363																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											85	86	86					1																	35578967		1801	4076	5877	SO:0001819	synonymous_variant	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1536G>A	1.37:g.35578967G>A			D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	CCDS41302.1																																																																																				0.363	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		A	35578967	G	A	35578967	2	1	104	1	0	0	0	0	0	0	0	1	17704	962	34	2		2	ZMYM1	1	35578967	Silent	SNP	G	TCGA-AK-3451-01A-02D-1251-10		35578967	213671654	1	6556											
FAM183A	440585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43616487	43616487	+	Silent	SNP	A	A	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:43616487A>C	ENST00000335282.4	+	2	189	c.189A>C	c.(187-189)gcA>gcC	p.A63A	FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000410048.1_Silent_p.A35A	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	63								p.A63A(2)		kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						AGGAACCTGCAGATGGTAAGT	0.468																																																2	Substitution - coding silent(2)	kidney(2)											72	66	68					1																	43616487		1888	4122	6010	SO:0001819	synonymous_variant	440585			AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.189A>C	1.37:g.43616487A>C			B7ZBL8	Silent	SNP	ENST00000335282.4	37	CCDS44126.1	.	.	.	.	.	.	.	.	.	.	A	0.948	-0.707399	0.03230	.	.	ENSG00000186973	ENST00000409337	.	.	.	4.89	3.76	0.43208	.	.	.	.	.	T	0.27765	0.0683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13124	-1.0521	5	0.02654	T	1	.	7.3235	0.26542	0.8982:0.0:0.1018:0.0	.	.	.	.	P	8	.	ENSP00000386318:Q8P	Q	+	2	0	FAM183A	43389074	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	1.910000	0.39927	0.824000	0.34613	0.533000	0.62120	CAG		0.468	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019024.3	NM_001101376		C	43616487	A	C	43616487	2	2	104	1	0	0	0	0	0	0	0	1	5512	175	7	5		5	FAM183A	1	43616487	Silent	SNP	A	TCGA-AK-3451-01A-02D-1251-10	8037520	43616487	205634134	2	6557											
CYP4A11	1579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	47402390	47402390	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:47402390A>C	ENST00000310638.4	-	4	487	c.456T>G	c.(454-456)taT>taG	p.Y152*	CYP4A11_ENST00000371905.1_Nonsense_Mutation_p.Y152*|CYP4A11_ENST00000371904.4_Nonsense_Mutation_p.Y152*|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000457840.2_Nonsense_Mutation_p.Y48*|CYP4A11_ENST00000462347.1_Nonsense_Mutation_p.Y152*	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	152					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.Y152*(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TCAGGATGTCATAGTGGAAGG	0.542																																																1	Substitution - Nonsense(1)	kidney(1)											116	90	99					1																	47402390		2203	4300	6503	SO:0001587	stop_gained	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.456T>G	1.37:g.47402390A>C	ENSP00000311095:p.Tyr152*		Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Nonsense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	23.8	4.458837	0.84317	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	.	.	.	5.57	-2.52	0.06346	.	0.070255	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4491	0.61161	0.5505:0.0:0.4495:0.0	.	.	.	.	X	152;152;152;48	.	ENSP00000311095:Y152X	Y	-	3	2	CYP4A11	47174977	0.957000	0.32711	0.985000	0.45067	0.901000	0.52897	0.232000	0.17891	-0.185000	0.10550	-0.426000	0.05927	TAT		0.542	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		C	47402390	A	C	47402390	4	2	104	1	0	0	0	0	0	1	0	0	4185	224	8	5	1139	5	CYP4A11	1	47402390	Nonsense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10	3785903	47402390	201848231	3	6558											
SCP2	6342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53516318	53516318	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:53516318T>A	ENST00000528311.1	+	15	1639	c.1343T>A	c.(1342-1344)aTg>aAg	p.M448K	SCP2_ENST00000371514.3_Missense_Mutation_p.M529K|SCP2_ENST00000407246.2_Missense_Mutation_p.M505K|SCP2_ENST00000435345.2_Missense_Mutation_p.M125K|SCP2_ENST00000430330.2_Missense_Mutation_p.M122K|SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000371509.4_Missense_Mutation_p.M485K	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.M529K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						ACTGGCAACATGGGTCTCGCT	0.373																																																1	Substitution - Missense(1)	kidney(1)											127	129	128					1																	53516318		2203	4300	6503	SO:0001583	missense	6342			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1343T>A	1.37:g.53516318T>A	ENSP00000434132:p.Met448Lys		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.630621	0.87660	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000435345	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	6.06	6.06	0.98353	SCP2 sterol-binding domain (2);	0.037040	0.85682	D	0.000000	T	0.59473	0.2196	M	0.90019	3.08	0.80722	D	1	D;D;P;D	0.69078	0.991;0.994;0.907;0.997	D;D;D;D	0.76575	0.958;0.988;0.943;0.988	T	0.68108	-0.5496	10	0.87932	D	0	-25.4539	15.6071	0.76682	0.0:0.0:0.0:1.0	.	505;485;122;529	C9JC79;A6NM69;E1B6W5;P22307	.;.;.;NLTP_HUMAN	K	529;448;485;505;122;125	ENSP00000360569:M529K;ENSP00000434132:M448K;ENSP00000360564:M485K;ENSP00000384569:M505K;ENSP00000406636:M122K;ENSP00000396413:M125K	ENSP00000360564:M485K	M	+	2	0	SCP2	53288906	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.217000	0.77982	2.323000	0.78572	0.528000	0.53228	ATG		0.373	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		A	53516318	T	A	53516318	3	1	104	1	0	0	0	0	1	0	0	0	13940	1464	51	5	1672	5	SCP2	1	53516318	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10	6113928	53516318	195734303	4	6559											
SFRS11	9295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70694139	70694139	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:70694139T>G	ENST00000370950.3	+	3	320	c.238T>G	c.(238-240)Ttt>Gtt	p.F80V	SRSF11_ENST00000436161.2_Missense_Mutation_p.F80V|SRSF11_ENST00000405432.1_Missense_Mutation_p.F80V|SRSF11_ENST00000454435.2_Missense_Mutation_p.F80V|SRSF11_ENST00000370951.1_Missense_Mutation_p.F80V			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	80	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F80V(1)		large_intestine(3)|ovary(2)|skin(1)	6						TCGTGTCTGCTTTGTTAAGTT	0.383																																																1	Substitution - Missense(1)	kidney(1)											204	174	184					1																	70694139		2203	4300	6503	SO:0001583	missense	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.238T>G	1.37:g.70694139T>G	ENSP00000359988:p.Phe80Val		Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275530	0.80580	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000454435;ENST00000395136;ENST00000436161	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.34	5.34	0.76211	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.78637	2.42	0.80722	D	1	D;D;D;P;P;P	0.57257	0.979;0.979;0.975;0.896;0.896;0.77	P;P;P;P;P;P	0.60173	0.828;0.87;0.819;0.596;0.596;0.5	T	0.52711	-0.8539	10	0.87932	D	0	.	15.3203	0.74117	0.0:0.0:0.0:1.0	.	80;80;80;80;80;80	B4DTC1;B4DWT1;Q05BU6;Q6PJB9;Q8IWE6;Q05519	.;.;.;.;.;SRS11_HUMAN	V	80	ENSP00000359989:F80V;ENSP00000359988:F80V;ENSP00000384357:F80V;ENSP00000411159:F80V;ENSP00000378568:F80V;ENSP00000405120:F80V	ENSP00000359988:F80V	F	+	1	0	SRSF11	70466727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.040000	0.60383	0.460000	0.39030	TTT		0.383	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		G	70694139	T	G	70694139	3	3	104	1	0	0	0	0	1	0	0	0	14172	1609	56	5	244	5	SFRS11	1	70694139	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10	17177821	70694139	178556482	5	6560											
LRRC8D	55144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	90400298	90400298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:90400298delT	ENST00000337338.5	+	3	2078	c.1671delT	c.(1669-1671)tatfs	p.Y557fs	LRRC8D_ENST00000394593.3_Frame_Shift_Del_p.Y557fs	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	557					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCTGGGTGTATTTGCTCAAAA	0.423																																																0													71	71	71					1																	90400298		2203	4300	6503	SO:0001589	frameshift_variant	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1671delT	1.37:g.90400298delT	ENSP00000338887:p.Tyr557fs		D3DT29|Q6UWB2|Q9NVW3	Frame_Shift_Del	DEL	ENST00000337338.5	37	CCDS726.1																																																																																				0.423	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		-	90400298	T	-	90400298	7	5	104	1	0	1	0	1	0	0	0	0	9026	1500	52	0	1673	0	LRRC8D	1	90400298	Frame_Shift_Del	DEL	T	TCGA-AK-3451-01A-02D-1251-10	19706159	90400298	158850323	6	6561											
EVI5	7813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	93089777	93089777	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:93089777C>T	ENST00000370331.1	-	14	1744	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	EVI5_ENST00000540033.1_Missense_Mutation_p.E579K|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Missense_Mutation_p.E590K	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	579	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E579K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TCTCTTATTTCTGCTTGTGTT	0.378																																																1	Substitution - Missense(1)	kidney(1)											249	211	224					1																	93089777		2203	4300	6503	SO:0001583	missense	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1735G>A	1.37:g.93089777C>T	ENSP00000359356:p.Glu579Lys		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194682	0.94960	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509;ENST00000338689	T;T;T	0.39592	1.07;1.07;1.07	5.54	5.54	0.83059	.	0.058280	0.64402	D	0.000002	T	0.43787	0.1263	M	0.78049	2.395	0.80722	D	1	B;B	0.29508	0.246;0.159	B;B	0.38378	0.272;0.14	T	0.42189	-0.9466	10	0.41790	T	0.15	-2.1966	19.4693	0.94956	0.0:1.0:0.0:0.0	.	590;579	F5H4R0;O60447	.;EVI5_HUMAN	K	579;579;590;278	ENSP00000359356:E579K;ENSP00000440826:E579K;ENSP00000445019:E590K	ENSP00000345500:E278K	E	-	1	0	EVI5	92862365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.197000	0.77814	2.594000	0.87642	0.655000	0.94253	GAA		0.378	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		T	93089777	C	T	93089777	3	4	104	1	0	0	0	0	1	0	0	0	5291	922	32	2	717	2	EVI5	1	93089777	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	2689479	93089777	156160844	7	6562											
KCNT2	343450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	196250087	196250087	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:196250087C>A	ENST00000294725.9	-	25	3728	c.2813G>T	c.(2812-2814)aGa>aTa	p.R938I	KCNT2_ENST00000367431.4_Missense_Mutation_p.R864I|KCNT2_ENST00000609185.1_Missense_Mutation_p.R864I|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.R914I|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	938					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R938I(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGCATAAGTTCTGATCCATAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											94	93	93					1																	196250087		2202	4300	6502	SO:0001583	missense	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2813G>T	1.37:g.196250087C>A	ENSP00000294725:p.Arg938Ile		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186609	0.94885	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.76060	-0.99;-0.99;-0.99	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000003	D	0.86814	0.6023	M	0.84683	2.71	0.80722	D	1	P;D;D;D;P	0.60160	0.955;0.973;0.973;0.987;0.955	P;P;P;P;P	0.61800	0.726;0.894;0.859;0.894;0.726	D	0.88332	0.2969	10	0.72032	D	0.01	-19.9645	18.5703	0.91133	0.0:1.0:0.0:0.0	.	938;896;914;864;938	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	I	914;864;938	ENSP00000356403:R914I;ENSP00000356401:R864I;ENSP00000294725:R938I	ENSP00000294725:R938I	R	-	2	0	KCNT2	194516710	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.201000	0.77847	2.753000	0.94483	0.557000	0.71058	AGA		0.343	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		A	196250087	C	A	196250087	3	1	104	1	0	0	0	0	1	0	0	0	8094	913	32	4	610	4	KCNT2	1	196250087	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	103160310	196250087	53000534	8	6563											
KIF21B	23046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200960791	200960791	+	Silent	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:200960791G>T	ENST00000422435.2	-	17	2764	c.2448C>A	c.(2446-2448)acC>acA	p.T816T	KIF21B_ENST00000360529.5_Silent_p.T816T|KIF21B_ENST00000461742.2_Silent_p.T816T|KIF21B_ENST00000332129.2_Silent_p.T816T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	816					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T816T(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCACCTCCTGGGTCTTCCTCC	0.612																																																1	Substitution - coding silent(1)	kidney(1)											64	60	61					1																	200960791		2203	4300	6503	SO:0001819	synonymous_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2448C>A	1.37:g.200960791G>T			B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																				0.612	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		T	200960791	G	T	200960791	2	4	104	1	0	0	0	0	0	0	0	1	8291	1219	43	4		4	KIF21B	1	200960791	Silent	SNP	G	TCGA-AK-3451-01A-02D-1251-10	4710704	200960791	48289830	9	6564											
URB2	9816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	229773365	229773365	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:229773365G>A	ENST00000258243.2	+	4	3141	c.3005G>A	c.(3004-3006)gGg>gAg	p.G1002E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1002						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G1002E(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAGTGATAGGGACGTTCTTA	0.433																																																1	Substitution - Missense(1)	kidney(1)											97	93	94					1																	229773365		2203	4300	6503	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3005G>A	1.37:g.229773365G>A	ENSP00000258243:p.Gly1002Glu		Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479153	0.26511	.	.	ENSG00000135763	ENST00000258243	T	0.28895	1.59	5.54	3.27	0.37495	.	0.393156	0.28618	N	0.014705	T	0.17109	0.0411	L	0.29908	0.895	0.22185	N	0.999308	B	0.18461	0.028	B	0.15870	0.014	T	0.11494	-1.0585	9	.	.	.	-23.7442	3.4677	0.07555	0.3555:0.1934:0.4511:0.0	.	1002	Q14146	URB2_HUMAN	E	1002	ENSP00000258243:G1002E	.	G	+	2	0	URB2	227839988	0.844000	0.29557	0.038000	0.18304	0.199000	0.23934	1.615000	0.36922	1.236000	0.43740	0.585000	0.79938	GGG		0.433	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		A	229773365	G	A	229773365	3	1	104	1	0	0	0	0	1	0	0	0	17030	1232	43	2	3015	2	URB2	1	229773365	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	28812574	229773365	19477256	10	6565											
SEMA4F	10505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74902021	74902021	+	Silent	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:74902021G>T	ENST00000357877.2	+	9	1157	c.1008G>T	c.(1006-1008)ggG>ggT	p.G336G	SEMA4F_ENST00000339773.5_Silent_p.G181G	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	336	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.G336G(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCAGGGAGGGGGCTACTATCT	0.522																																																1	Substitution - coding silent(1)	kidney(1)											64	64	64					2																	74902021		2203	4300	6503	SO:0001819	synonymous_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1008G>T	2.37:g.74902021G>T			Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	37	CCDS1955.1																																																																																				0.522	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		T	74902021	G	T	74902021	2	4	104	1	0	0	0	0	0	0	0	1	14041	1219	43	4		4	SEMA4F	2	74902021	Silent	SNP	G	TCGA-AK-3451-01A-02D-1251-10		74902021	168297352	11	6566											
TSGA10	80705	broad.mit.edu;hgsc.bcm.edu	37	2	99725301	99725301	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:99725301C>T	ENST00000393483.3	-	7	1049	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	TSGA10_ENST00000542655.1_Missense_Mutation_p.E69K|TSGA10_ENST00000539964.1_Missense_Mutation_p.E69K|TSGA10_ENST00000410001.1_Missense_Mutation_p.E69K|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.E69K	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	69					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.E69K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTTACCTGTTCATAAAGAAGG	0.323																																																1	Substitution - Missense(1)	kidney(1)											60	60	60					2																	99725301		2202	4299	6501	SO:0001583	missense	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.205G>A	2.37:g.99725301C>T	ENSP00000377123:p.Glu69Lys		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239869	0.22711	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	4.52	3.65	0.41850	.	0.106321	0.41605	D	0.000844	T	0.23766	0.0575	N	0.12746	0.255	0.26887	N	0.967412	B;B	0.33103	0.397;0.397	B;B	0.28991	0.097;0.097	T	0.12016	-1.0564	10	0.18276	T	0.48	-14.442	8.1143	0.30933	0.0:0.7477:0.1634:0.0889	.	69;69	B7Z925;Q9BZW7	.;TSG10_HUMAN	K	69	ENSP00000377123:E69K;ENSP00000386956:E69K;ENSP00000347161:E69K;ENSP00000444419:E69K;ENSP00000386508:E69K;ENSP00000377122:E69K;ENSP00000445623:E69K	ENSP00000347161:E69K	E	-	1	0	TSGA10	99091733	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	2.618000	0.46393	1.132000	0.42129	-0.324000	0.08512	GAA		0.323	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		T	99725301	C	T	99725301	3	4	104	1	0	0	0	0	1	0	0	0	16622	835	29	2	1951	2	TSGA10	2	99725301	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	24823280	99725301	143474072	12	6567											
GALNT5	11227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158114785	158114785	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:158114785G>A	ENST00000259056.4	+	1	676	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	64					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G64E(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCAGACCAAGGAAAAATTTTT	0.478																																																1	Substitution - Missense(1)	kidney(1)											116	128	124					2																	158114785		2203	4300	6503	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.191G>A	2.37:g.158114785G>A	ENSP00000259056:p.Gly64Glu		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	1.037	-0.679971	0.03353	.	.	ENSG00000136542	ENST00000259056	T	0.56275	0.47	5.29	-8.7	0.00851	.	1.829720	0.02329	N	0.073796	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10847	-1.0612	10	0.18276	T	0.48	.	0.3077	0.00283	0.2687:0.191:0.2765:0.2637	.	64	Q7Z7M9	GALT5_HUMAN	E	64	ENSP00000259056:G64E	ENSP00000259056:G64E	G	+	2	0	GALNT5	157823031	0.026000	0.19158	0.002000	0.10522	0.080000	0.17528	-0.269000	0.08596	-0.927000	0.03766	-2.309000	0.00256	GGA		0.478	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		A	158114785	G	A	158114785	3	1	104	1	0	0	0	0	1	0	0	0	6218	1174	41	2	193	2	GALNT5	2	158114785	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	58389484	158114785	85084588	13	6568											
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	167760143	167760143	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:167760143G>T	ENST00000409728.1	+	2	240	c.151G>T	c.(151-153)Gta>Tta	p.V51L	XIRP2_ENST00000409756.2_Missense_Mutation_p.V51L|XIRP2_ENST00000295237.9_Missense_Mutation_p.V51L|XIRP2_ENST00000420519.1_Missense_Mutation_p.V51L|XIRP2_ENST00000409043.1_Missense_Mutation_p.V51L|XIRP2_ENST00000409195.1_Missense_Mutation_p.V51L	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.V51L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGAGAGGTAGTATCAGCACC	0.483																																																2	Substitution - Missense(2)	kidney(2)											75	74	75					2																	167760143		1952	4136	6088	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.151G>T	2.37:g.167760143G>T	ENSP00000386619:p.Val51Leu		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818322	0.32145	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.77750	-1.1;-1.12;4.24;-1.1;-1.12;4.24	5.15	-1.48	0.08745	.	.	.	.	.	T	0.56140	0.1965	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.34153	-0.9840	8	0.28530	T	0.3	.	1.3413	0.02155	0.3088:0.3431:0.2164:0.1317	.	51;51	A4UGR9-4;A4UGR9-6	.;.	L	51	ENSP00000386454:V51L;ENSP00000386619:V51L;ENSP00000386840:V51L;ENSP00000386724:V51L;ENSP00000415541:V51L;ENSP00000295237:V51L	ENSP00000295237:V51L	V	+	1	0	XIRP2	167468389	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.113000	0.10774	-0.385000	0.07833	-0.182000	0.12963	GTA		0.483	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		T	167760143	G	T	167760143	3	4	104	1	0	0	0	0	1	0	0	0	17435	1029	36	4	153	4	XIRP2	2	167760143	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	9645358	167760143	75439230	14	6569											
SPC25	57405	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	169745777	169745777	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:169745777T>G	ENST00000282074.2	-	3	299	c.158A>C	c.(157-159)gAa>gCa	p.E53A	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	53	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.E53A(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TCGTTCTTCTTCCTTTAATTT	0.299																																																1	Substitution - Missense(1)	kidney(1)											93	91	92					2																	169745777		2203	4300	6503	SO:0001583	missense	57405			AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"spindle pole body component 25 homolog (S. cerevisiae)", "SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.158A>C	2.37:g.169745777T>G	ENSP00000282074:p.Glu53Ala		A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	37	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176820	0.78564	.	.	ENSG00000152253	ENST00000282074;ENST00000451987	D;D	0.86030	-2.06;-2.06	5.95	5.95	0.96441	.	0.049895	0.85682	D	0.000000	D	0.87873	0.6287	L	0.32530	0.975	0.51012	D	0.9999	D	0.76494	0.999	D	0.78314	0.991	D	0.88757	0.3254	10	0.66056	D	0.02	-23.8317	12.8095	0.57631	0.0:0.0:0.0:1.0	.	53	Q9HBM1	SPC25_HUMAN	A	53	ENSP00000282074:E53A;ENSP00000393322:E53A	ENSP00000282074:E53A	E	-	2	0	SPC25	169454023	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.011000	0.57124	2.267000	0.75376	0.528000	0.53228	GAA		0.299	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675		G	169745777	T	G	169745777	3	3	104	1	0	0	0	0	1	0	0	0	15027	1783	62	5	536	5	SPC25	2	169745777	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10	1985634	169745777	73453596	15	6570											
ITGA6	3655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	173352130	173352130	+	Silent	SNP	G	G	A	rs141344340	byFrequency	TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:173352130G>A	ENST00000264106.6	+	16	2429	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Silent_p.T584T|ITGA6_ENST00000343713.4_Silent_p.T698T|ITGA6_ENST00000409080.1_Silent_p.T703T|ITGA6_ENST00000264107.7_Silent_p.T703T|ITGA6_ENST00000375221.2_Silent_p.T742T			P23229	ITA6_HUMAN	integrin, alpha 6	742					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.T703T(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGATTGCAACGTTTCCAGACA	0.433																																																2	Substitution - coding silent(2)	kidney(2)						G	,	2,4404	2.1+/-5.4	0,2,2201	82	84	83		2109,2109	-11	0	2	dbSNP_134	83	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous	ITGA6	NM_000210.2,NM_001079818.1	,	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	,	703/1074,703/1092	173352130	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2226G>A	2.37:g.173352130G>A			B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37																																																																																					0.433	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				A	173352130	G	A	173352130	2	1	104	1	0	0	0	0	0	0	0	1	7882	1132	40	1		1	ITGA6	2	173352130	Silent	SNP	G	TCGA-AK-3451-01A-02D-1251-10	3606353	173352130	69847243	16	6571											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179582267	179582267	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:179582267G>A	ENST00000591111.1	-	85	24607	c.24383C>T	c.(24382-24384)gCc>gTc	p.A8128V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A8445V|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A7201V			Q8WZ42	TITIN_HUMAN	titin	12315	Ig-like 63.				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)	p.A7201V(1)		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)			AATGAGCTTGGCACTGGATGA	0.458																																																1	Substitution - Missense(1)	kidney(1)											70	72	71					2																	179582267		1909	4124	6033	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24383C>T	2.37:g.179582267G>A	ENSP00000465570:p.Ala8128Val		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.66	1.704926	0.30232	.	.	ENSG00000155657	ENST00000342992	T	0.68479	-0.33	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79678	0.4487	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	P	0.62382	0.901	T	0.81722	-0.0803	9	0.87932	D	0	.	15.2885	0.73849	0.0:0.1396:0.8604:0.0	.	8128	Q8WZ42	TITIN_HUMAN	V	7201	ENSP00000343764:A7201V	ENSP00000343764:A7201V	A	-	2	0	TTN	179290512	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.188000	0.65093	2.738000	0.93877	0.655000	0.94253	GCC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179582267	G	A	179582267	3	1	104	1	0	0	0	0	1	0	0	0	16740	1203	42	2	79299	2	TTN	2	179582267	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	6230137	179582267	63617106	17	6572											
AOX1	316	hgsc.bcm.edu;ucsc.edu	37	2	201533350	201533350	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:201533350delT	ENST00000374700.2	+	33	3863	c.3622delT	c.(3622-3624)tttfs	p.F1208fs	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1208					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGAAGGTGCATTTATTCAAGG	0.398																																																0													135	135	135					2																	201533350		2203	4300	6503	SO:0001589	frameshift_variant	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3622delT	2.37:g.201533350delT	ENSP00000363832:p.Phe1208fs		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Frame_Shift_Del	DEL	ENST00000374700.2	37	CCDS33360.1																																																																																				0.398	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		-	201533350	T	-	201533350	7	5	104	1	0	1	0	1	0	0	0	0	729	1493	52	0	3752	0	AOX1	2	201533350	Frame_Shift_Del	DEL	T	TCGA-AK-3451-01A-02D-1251-10	21951083	201533350	41666023	18	6573											
CCDC108	255101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219900064	219900064	+	Intron	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:219900064T>G	ENST00000341552.5	-	5	626				CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000295729.2_Missense_Mutation_p.Q162P|CCDC108_ENST00000324264.6_Missense_Mutation_p.Q162P|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron|CCDC108_ENST00000409865.3_Intron	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.Q162P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTATTCATACTGCACGTATTT	0.353																																																1	Substitution - Missense(1)	kidney(1)											27	29	28					2																	219900064		2168	4221	6389	SO:0001627	intron_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.542+137A>C	2.37:g.219900064T>G			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	T	8.779	0.927820	0.18056	.	.	ENSG00000181378	ENST00000295729;ENST00000324264	T;T	0.50813	0.73;0.73	2.65	1.48	0.22813	.	.	.	.	.	T	0.38453	0.1041	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.14062	-1.0486	9	0.37606	T	0.19	.	4.5034	0.11876	0.0:0.1571:0.0:0.8429	.	162	E9PCR1	.	P	162	ENSP00000295729:Q162P;ENSP00000313807:Q162P	ENSP00000295729:Q162P	Q	-	2	0	CCDC108	219608308	0.005000	0.15991	0.004000	0.12327	0.031000	0.12232	0.157000	0.16402	0.438000	0.26450	0.459000	0.35465	CAG		0.353	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		G	219900064	T	G	219900064	1	3	104	0	1	0	0	0	0	0	0	0	2745	1580	55	5		5	CCDC108	2	219900064	Intron	SNP	T	TCGA-AK-3451-01A-02D-1251-10	18366714	219900064	23299309	19	6574											
SPHKAP	80309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228883640	228883640	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:228883640T>C	ENST00000392056.3	-	7	1976	c.1930A>G	c.(1930-1932)Aac>Gac	p.N644D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.N644D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	644						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.N644D(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTCTCCTGTTCATGGAGTCC	0.478																																																2	Substitution - Missense(2)	kidney(2)											100	95	97					2																	228883640		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1930A>G	2.37:g.228883640T>C	ENSP00000375909:p.Asn644Asp		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.040872	0.55003	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.50277	0.75;0.75	5.54	1.7	0.24286	.	0.349225	0.35349	N	0.003271	T	0.46983	0.1421	L	0.59436	1.845	0.09310	N	0.999999	P;P	0.52061	0.651;0.95	B;P	0.48334	0.157;0.574	T	0.40590	-0.9555	10	0.62326	D	0.03	.	8.4113	0.32644	0.1223:0.0:0.2563:0.6214	.	644;644	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	D	644	ENSP00000375909:N644D;ENSP00000339886:N644D	ENSP00000339886:N644D	N	-	1	0	SPHKAP	228591884	0.960000	0.32886	0.009000	0.14445	0.908000	0.53690	2.557000	0.45871	0.100000	0.17581	0.533000	0.62120	AAC		0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		C	228883640	T	C	228883640	3	2	104	1	0	0	0	0	1	0	0	0	15053	1783	62	3	3196	3	SPHKAP	2	228883640	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10	8983576	228883640	14315733	20	6575											
UGT1A7	54577	broad.mit.edu	37	2	234591037	234591037	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:234591037G>A	ENST00000373426.3	+	1	454	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	152					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.A152T(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TCCTTTTGATGCCTGTGGCTT	0.408																																																1	Substitution - Missense(1)	kidney(1)											157	159	158					2																	234591037		2203	4300	6503	SO:0001583	missense	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.454G>A	2.37:g.234591037G>A	ENSP00000362525:p.Ala152Thr		B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.816|6.816	0.519614|0.519614	0.13005|0.13005	.|.	.|.	ENSG00000244122|ENSG00000244122	ENST00000373426|ENST00000485022	T|.	0.58358|.	0.34|.	4.34|4.34	-6.79|-6.79	0.01715|0.01715	.|.	.|.	.|.	.|.	.|.	T|T	0.14874|0.14874	0.0359|0.0359	N|N	0.11756|0.11756	0.17|0.17	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.08055|.	0.003;0.003|.	T|T	0.26018|0.26018	-1.0115|-1.0115	9|5	0.56958|.	D|.	0.05|.	.|.	5.7727|5.7727	0.18261|0.18261	0.1368:0.4899:0.285:0.0884|0.1368:0.4899:0.285:0.0884	.|.	152;152|.	Q5DSZ7;Q9HAW7|.	.;UD17_HUMAN|.	T|I	152|8	ENSP00000362525:A152T|.	ENSP00000362525:A152T|.	A|M	+|+	1|3	0|0	UGT1A7|UGT1A7	234255776|234255776	0.000000|0.000000	0.05858|0.05858	0.087000|0.087000	0.20705|0.20705	0.045000|0.045000	0.14185|0.14185	-0.307000|-0.307000	0.08167|0.08167	-1.486000|-1.486000	0.01851|0.01851	-0.339000|-0.339000	0.08088|0.08088	GCC|ATG		0.408	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		A	234591037	G	A	234591037	3	1	104	1	0	0	0	0	1	0	0	0	16955	1319	46	2	456	2	UGT1A7	2	234591037	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	5707397	234591037	8608336	21	6576											
UGT1A7	54577	broad.mit.edu;hgsc.bcm.edu	37	2	234591142	234591142	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:234591142C>G	ENST00000373426.3	+	1	559	c.559C>G	c.(559-561)Ctt>Gtt	p.L187V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	187					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.L187V(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CCCTGCTCCTCTTTCCTATGT	0.468																																																1	Substitution - Missense(1)	kidney(1)											160	168	165					2																	234591142		2203	4300	6503	SO:0001583	missense	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.559C>G	2.37:g.234591142C>G	ENSP00000362525:p.Leu187Val		B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522462	0.27211	.	.	ENSG00000244122	ENST00000373426	T	0.06933	3.24	4.34	2.5	0.30297	.	.	.	.	.	T	0.06872	0.0175	N	0.25201	0.72	0.09310	N	1	B;B	0.19331	0.035;0.035	B;B	0.24269	0.052;0.052	T	0.37731	-0.9693	9	0.35671	T	0.21	.	10.8442	0.46733	0.1472:0.7113:0.1416:0.0	.	187;187	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	V	187	ENSP00000362525:L187V	ENSP00000362525:L187V	L	+	1	0	UGT1A7	234255881	0.000000	0.05858	0.001000	0.08648	0.461000	0.32589	0.020000	0.13466	0.444000	0.26612	0.491000	0.48974	CTT		0.468	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		G	234591142	C	G	234591142	3	3	104	1	0	0	0	0	1	0	0	0	16955	913	32	4	561	4	UGT1A7	2	234591142	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	105	234591142	8608231	22	6577											
RFTN1	23180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	16368331	16368331	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:16368331T>C	ENST00000334133.4	-	8	1471	c.1199A>G	c.(1198-1200)tAt>tGt	p.Y400C	OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.Y364C|OXNAD1_ENST00000605932.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	400					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.Y400C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTGCCAGCCATAGGCCGCCAG	0.537																																																1	Substitution - Missense(1)	kidney(1)											53	46	48					3																	16368331		2203	4300	6503	SO:0001583	missense	23180			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1199A>G	3.37:g.16368331T>C	ENSP00000334153:p.Tyr400Cys		Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274204	0.80580	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.39592	1.07;1.07	5.55	5.55	0.83447	.	0.060541	0.64402	D	0.000002	T	0.64046	0.2563	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67964	-0.5534	10	0.87932	D	0	-18.8615	14.6934	0.69103	0.0:0.0:0.0:1.0	.	364;400	G3XAJ6;Q14699	.;RFTN1_HUMAN	C	364;400	ENSP00000403926:Y364C;ENSP00000334153:Y400C	ENSP00000334153:Y400C	Y	-	2	0	RFTN1	16343335	1.000000	0.71417	0.972000	0.41901	0.795000	0.44927	5.417000	0.66423	2.115000	0.64714	0.528000	0.53228	TAT		0.537	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		C	16368331	T	C	16368331	3	2	104	1	0	0	0	0	1	0	0	0	13264	1406	49	3	549	3	RFTN1	3	16368331	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10		16368331	181654099	23	6578											
NEK10	152110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	27332981	27332982	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:27332981_27332982insAA	ENST00000429845.2	-	18	1831_1832	c.1469_1470insTT	c.(1468-1470)ttafs	p.L490fs	NEK10_ENST00000357467.2_5'Flank|NEK10_ENST00000341435.5_Frame_Shift_Ins_p.L490fs			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	490					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTACCACTAATAAATTCAGCTT	0.356																																																0																																										SO:0001589	frameshift_variant	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1468_1469dupTT	3.37:g.27332982_27332983dupAA	ENSP00000395849:p.Leu490fs		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Frame_Shift_Ins	INS	ENST00000429845.2	37																																																																																					0.356	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		AA	27332982	-	AA	27332981	7	5	104	1	0	1	1	0	0	0	0	0	10324	1403	49	0	700	0	NEK10	3	27332981	Frame_Shift_Ins	INS	-	TCGA-AK-3451-01A-02D-1251-10	10964650	27332981	170689449	24	6579											
PLXNB1	5364	broad.mit.edu	37	3	48463743	48463743	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:48463743G>T	ENST00000358536.4	-	5	1685	c.1416C>A	c.(1414-1416)agC>agA	p.S472R	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.S472R|PLXNB1_ENST00000456774.1_Missense_Mutation_p.S472R|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S472R	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	472	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.S472R(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACTCACTGTGCTCTGGGTCA	0.602																																																1	Substitution - Missense(1)	kidney(1)											36	33	34					3																	48463743		2203	4300	6503	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1416C>A	3.37:g.48463743G>T	ENSP00000351338:p.Ser472Arg		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406372	0.42715	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.39	2.18	0.27775	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.478068	0.24379	N	0.039039	T	0.02767	0.0083	N	0.16602	0.42	0.80722	D	1	B;B	0.22851	0.076;0.034	B;B	0.22386	0.017;0.039	T	0.50906	-0.8772	10	0.13470	T	0.59	.	7.0479	0.25056	0.0986:0.0:0.6357:0.2657	.	472;472	O43157;O43157-2	PLXB1_HUMAN;.	R	472	ENSP00000296440:S472R;ENSP00000351242:S472R;ENSP00000351338:S472R;ENSP00000414199:S472R	ENSP00000296440:S472R	S	-	3	2	PLXNB1	48438747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.751000	0.38339	0.203000	0.20529	0.650000	0.86243	AGC		0.602	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		T	48463743	G	T	48463743	3	4	104	1	0	0	0	0	1	0	0	0	12125	1310	46	4	5127	4	PLXNB1	3	48463743	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	21130762	48463743	149558687	25	6580											
MST1R	4486	broad.mit.edu	37	3	49940468	49940476	+	In_Frame_Del	DEL	CCTTGCTCA	CCTTGCTCA	-	rs569815986		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	CCTTGCTCA	CCTTGCTCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:49940468_49940476delCCTTGCTCA	ENST00000296474.3	-	1	594_602	c.567_575delTGAGCAAGG	c.(565-576)gttgagcaaggc>gtc	p.EQG190del	CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_In_Frame_Del_p.EQG190del	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	190	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGAGGCCTGGCCTTGCTCAACCACAGTTA	0.627																																																0																																										SO:0001651	inframe_deletion	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.567_575delTGAGCAAGG	3.37:g.49940468_49940476delCCTTGCTCA	ENSP00000296474:p.Glu190_Gly192del		B5A944|B5A945|B5A946|B5A947	In_Frame_Del	DEL	ENST00000296474.3	37	CCDS2807.1																																																																																				0.627	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			-	49940476	CCTTGCTCA	-	49940468	7	5	104	1	0	1	0	1	0	0	0	0	9893	739	26	0	3707	0	MST1R	3	49940468	In_Frame_Del	DEL	CCTTGCTCA	TCGA-AK-3451-01A-02D-1251-10	1476725	49940468	148081962	26	6581											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52442521	52442521	+	5'Flank	SNP	T	T	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:52442521T>C	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Missense_Mutation_p.D75G|BAP1_ENST00000296288.5_Missense_Mutation_p.D75G|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.I72fs*7(1)|p.D75G(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ATTCACAATATCATCATCAAT	0.478																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	kidney(1)|pleura(1)											66	55	59					3																	52442521		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442521T>C	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130185	0.77549	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.54866	0.55;0.55	5.52	5.52	0.82312	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.224693	0.49305	D	0.000146	T	0.39627	0.1085	N	0.17345	0.48	0.80722	D	1	B	0.20368	0.044	B	0.15484	0.013	T	0.25293	-1.0136	10	0.59425	D	0.04	-4.0493	15.6492	0.77078	0.0:0.0:0.0:1.0	.	75	Q92560	BAP1_HUMAN	G	75	ENSP00000417132:D75G;ENSP00000296288:D75G	ENSP00000296288:D75G	D	-	2	0	BAP1	52417561	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	8.005000	0.88553	2.106000	0.64143	0.533000	0.62120	GAT		0.478	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		C	52442521	T	C	52442521	1	2	104	0	1	0	0	0	0	0	0	0	1311	1435	50	3		3	BAP1	3	52442521	5'Flank	SNP	T	TCGA-AK-3451-01A-02D-1251-10	2502053	52442521	145579909	27	6582											
PTPRG	5793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	62258667	62258667	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:62258667C>G	ENST00000474889.1	+	22	3606	c.3229C>G	c.(3229-3231)Ctg>Gtg	p.L1077V	PTPRG_ENST00000295874.10_Missense_Mutation_p.L1048V|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1077	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1077V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGACAGCATGCTGCAACAGAT	0.433																																																1	Substitution - Missense(1)	kidney(1)											163	140	148					3																	62258667		2203	4300	6503	SO:0001583	missense	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3229C>G	3.37:g.62258667C>G	ENSP00000418112:p.Leu1077Val		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142268	0.77775	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.85702	-2.02;-2.02	5.45	3.6	0.41247	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.073976	0.56097	D	0.000028	D	0.90957	0.7157	M	0.81239	2.535	0.80722	D	1	D;D;D	0.65815	0.979;0.988;0.995	P;P;D	0.68943	0.652;0.87;0.961	D	0.91438	0.5171	10	0.87932	D	0	.	10.5134	0.44874	0.0:0.7884:0.0:0.2116	.	323;1048;1077	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	V	1077;1048	ENSP00000418112:L1077V;ENSP00000295874:L1048V	ENSP00000295874:L1048V	L	+	1	2	PTPRG	62233707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.118000	0.41949	1.404000	0.46819	0.561000	0.74099	CTG		0.433	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		G	62258667	C	G	62258667	3	3	104	1	0	0	0	0	1	0	0	0	12808	796	28	4	3315	4	PTPRG	3	62258667	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	9816146	62258667	135763763	28	6583											
DPPA2	151871	hgsc.bcm.edu;ucsc.edu	37	3	109031461	109031461	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:109031461delC	ENST00000478945.1	-	3	358	c.112delG	c.(112-114)gaafs	p.E38fs		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	38					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.E38K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATTTGTTCCATATTTGCG	0.418																																																1	Substitution - Missense(1)	lung(1)											189	172	178					3																	109031461		2203	4300	6503	SO:0001589	frameshift_variant	151871			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.112delG	3.37:g.109031461delC	ENSP00000417710:p.Glu38fs		Q8WVF0	Frame_Shift_Del	DEL	ENST00000478945.1	37	CCDS2956.1																																																																																				0.418	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		-	109031461	C	-	109031461	7	5	104	1	0	1	0	1	0	0	0	0	4736	864	30	0	808	0	DPPA2	3	109031461	Frame_Shift_Del	DEL	C	TCGA-AK-3451-01A-02D-1251-10	46772794	109031461	88990969	29	6584											
MME	4311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	154856020	154856021	+	Missense_Mutation	DNP	GC	GC	TG	rs572687446		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:154856020_154856021GC>TG	ENST00000460393.1	+	9	970_971	c.850_851GC>TG	c.(850-852)GCc>TGc	p.A284C	MME_ENST00000492661.1_Missense_Mutation_p.A284C|MME_ENST00000493237.1_Missense_Mutation_p.A284C|MME_ENST00000462745.1_Missense_Mutation_p.A284C|MME_ENST00000360490.2_Missense_Mutation_p.A284C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	284					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.A284S(1)|p.A284G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AAAAGAAATTGCCAATGTAAAA	0.351																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	Exception_encountered	3.37:g.154856020_154856021delinsTG	ENSP00000418525:p.Ala284Cys		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1																																																																																				0.351	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		TG	154856021	GC	TG	154856020	3	4	104	1	0	0	0	0	1	0	0	0	9647	1319	46	4	880	4	MME	3	154856020	Missense_Mutation	DNP	GC	TCGA-AK-3451-01A-02D-1251-10	45824559	154856020	43166410	30	6585											
CTNND2	1501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	11018139	11018139	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:11018139G>T	ENST00000304623.8	-	18	3220	c.3031C>A	c.(3031-3033)Cag>Aag	p.Q1011K	CTNND2_ENST00000503622.1_Missense_Mutation_p.Q674K|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q953K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q920K|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q578K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1011					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q1011K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGAGGACCTGAGATGCAGCC	0.493																																																1	Substitution - Missense(1)	kidney(1)											143	127	133					5																	11018139		2203	4300	6503	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3031C>A	5.37:g.11018139G>T	ENSP00000307134:p.Gln1011Lys		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254457	0.80135	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	L	0.58810	1.83	0.80722	D	1	B;B;D	0.54964	0.02;0.018;0.969	B;B;D	0.64877	0.016;0.016;0.93	T	0.64441	-0.6407	10	0.62326	D	0.03	-19.5888	20.8794	0.99867	0.0:0.0:1.0:0.0	.	674;603;1011	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	K	1011;953;920;106;578;674	ENSP00000307134:Q1011K;ENSP00000352661:Q953K;ENSP00000426510:Q920K;ENSP00000391155:Q578K;ENSP00000426887:Q674K	ENSP00000307134:Q1011K	Q	-	1	0	CTNND2	11071139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CAG		0.493	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		T	11018139	G	T	11018139	3	4	104	1	0	0	0	0	1	0	0	0	4022	1299	45	4	666	4	CTNND2	5	11018139	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10		11018139	169897121	31	6586											
MTMR12	54545	broad.mit.edu;hgsc.bcm.edu	37	5	32242165	32242165	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:32242165A>G	ENST00000382142.3	-	12	1339	c.1169T>C	c.(1168-1170)tTa>tCa	p.L390S	MTMR12_ENST00000264934.5_Missense_Mutation_p.L390S|MTMR12_ENST00000280285.5_Missense_Mutation_p.L390S	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	390	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.L390S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TATATTACCTAAAAGAAGAAC	0.333																																																1	Substitution - Missense(1)	kidney(1)											150	145	146					5																	32242165		2201	4300	6501	SO:0001583	missense	54545			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1169T>C	5.37:g.32242165A>G	ENSP00000371577:p.Leu390Ser		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972011	0.34754	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.90004	-2.6;-2.6;-2.6	5.68	5.68	0.88126	Myotubularin phosphatase domain (1);	0.442058	0.20636	N	0.088487	T	0.77745	0.4176	N	0.13140	0.3	0.33804	D	0.627031	P;B;B	0.38504	0.634;0.216;0.381	B;B;B	0.34452	0.124;0.115;0.183	T	0.82297	-0.0527	10	0.34782	T	0.22	.	9.7354	0.40384	0.9225:0.0:0.0775:0.0	.	390;390;390	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	S	390	ENSP00000280285:L390S;ENSP00000371577:L390S;ENSP00000264934:L390S	ENSP00000264934:L390S	L	-	2	0	MTMR12	32277922	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.577000	0.46042	2.172000	0.68678	0.533000	0.62120	TTA		0.333	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		G	32242165	A	G	32242165	3	3	104	1	0	0	0	0	1	0	0	0	9943	372	13	3	1094	3	MTMR12	5	32242165	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10	21224026	32242165	148673095	32	6587											
AFF4	27125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132270528	132270528	+	Missense_Mutation	SNP	T	T	C	rs372069594		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:132270528T>C	ENST00000265343.5	-	3	608	c.229A>G	c.(229-231)Att>Gtt	p.I77V	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.I77V	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	77					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I77V(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCTTGGGAATTGCAACAAGC	0.398																																					Ovarian(126;889 1733 2942 10745 11605)											1	Substitution - Missense(1)	kidney(1)						T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	125	131	129		229	5.9	1	5		129	0,8600		0,0,4300	no	missense	AFF4	NM_014423.3	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	77/1164	132270528	1,13005	2203	4300	6503	SO:0001583	missense	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.229A>G	5.37:g.132270528T>C	ENSP00000265343:p.Ile77Val		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.000189	0.54147	2.27E-4	0.0	ENSG00000072364	ENST00000265343;ENST00000378595;ENST00000421773	T;T;T	0.63255	-0.03;-0.03;-0.03	5.86	5.86	0.93980	.	0.049747	0.85682	D	0.000000	T	0.51007	0.1649	N	0.25380	0.74	0.48975	D	0.999736	B;B;B	0.24823	0.037;0.112;0.018	B;B;B	0.27380	0.055;0.079;0.043	T	0.45352	-0.9267	10	0.20519	T	0.43	-11.3558	16.2479	0.82454	0.0:0.0:0.0:1.0	.	77;77;77	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	V	77	ENSP00000265343:I77V;ENSP00000367858:I77V;ENSP00000395268:I77V	ENSP00000265343:I77V	I	-	1	0	AFF4	132298427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.225000	0.58600	2.241000	0.73720	0.533000	0.62120	ATT		0.398	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		C	132270528	T	C	132270528	3	2	104	1	0	0	0	0	1	0	0	0	359	1493	52	3	3338	3	AFF4	5	132270528	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10	100028363	132270528	48644732	33	6588											
PCDHA12	56137	broad.mit.edu	37	5	140256584	140256584	+	Silent	SNP	G	G	A	rs368334312		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:140256584G>A	ENST00000398631.2	+	1	1527	c.1527G>A	c.(1525-1527)tcG>tcA	p.S509S	PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	509	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)	p.S509S(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACGTGTCGGTGCACGCGG	0.701																																					Pancreas(113;759 1672 13322 24104 50104)											1	Substitution - coding silent(1)	kidney(1)						G	,,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	72	72	72		,,,1527,,,,,,,,,,,,1527	-3.5	1	5		72	0,8598		0,0,4299	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,,,,,,,,,	,,,509/942,,,,,,,,,,,,509/793	140256584	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1527G>A	5.37:g.140256584G>A			O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																				0.701	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		A	140256584	G	A	140256584	2	1	104	1	0	0	0	0	0	0	0	1	11524	1103	39	1		1	PCDHA12	5	140256584	Silent	SNP	G	TCGA-AK-3451-01A-02D-1251-10	7986056	140256584	40658676	34	6589											
GEMIN5	25929	hgsc.bcm.edu;ucsc.edu	37	5	154287300	154287300	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:154287300delA	ENST00000285873.7	-	16	2321	c.2246delT	c.(2245-2247)ttgfs	p.L749fs		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	749					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGAGTTCTCAAGGTGGGCTT	0.413																																																0													191	192	192					5																	154287300		2203	4300	6503	SO:0001589	frameshift_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2246delT	5.37:g.154287300delA	ENSP00000285873:p.Leu749fs		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Frame_Shift_Del	DEL	ENST00000285873.7	37	CCDS4330.1																																																																																				0.413	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			-	154287300	A	-	154287300	7	5	104	1	0	1	0	1	0	0	0	0	6333	131	5	0	2332	0	GEMIN5	5	154287300	Frame_Shift_Del	DEL	A	TCGA-AK-3451-01A-02D-1251-10	14030716	154287300	26627960	35	6590											
GABRG2	2566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	161524855	161524855	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:161524855A>G	ENST00000361925.4	+	4	759	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	GABRG2_ENST00000414552.2_Missense_Mutation_p.Y180C|GABRG2_ENST00000356592.3_Missense_Mutation_p.Y180C|GABRG2_ENST00000393933.4_Missense_Mutation_p.Y85C			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	180					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y180C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGAGTGCTCTACACCCTAAGG	0.368																																																1	Substitution - Missense(1)	kidney(1)											76	77	77					5																	161524855		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.539A>G	5.37:g.161524855A>G	ENSP00000354651:p.Tyr180Cys		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176773	0.78564	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93321	0.7871	H	0.96691	3.865	0.80722	D	1	D;P;D	0.89917	1.0;0.949;1.0	D;P;D	0.91635	0.997;0.874;0.999	D	0.95403	0.8491	10	0.87932	D	0	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	180;180;180	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	C	180;180;180;85;85	ENSP00000349000:Y180C;ENSP00000410732:Y180C;ENSP00000354651:Y180C;ENSP00000377510:Y85C;ENSP00000430182:Y85C	ENSP00000349000:Y180C	Y	+	2	0	GABRG2	161457433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.171000	0.94802	2.225000	0.72522	0.460000	0.39030	TAC		0.368	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			G	161524855	A	G	161524855	3	3	104	1	0	0	0	0	1	0	0	0	6174	391	14	3	553	3	GABRG2	5	161524855	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10	7237555	161524855	19390405	36	6591											
CYP21A2	1589	broad.mit.edu	37	6	32006526	32006526	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr6:32006526C>A	ENST00000418967.2	+	2	388	c.230C>A	c.(229-231)aCc>aAc	p.T77N	C4B-AS1_ENST00000415626.1_RNA|CYP21A2_ENST00000435122.2_Intron	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	76			I -> T (in AH3; simple virilizing form). {ECO:0000269|PubMed:20080860}.		glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)	p.T77N(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TCCAAGAGGACCATTGAGGAA	0.542																																					Melanoma(174;1669 1998 3915 34700 46447)											1	Substitution - Missense(1)	kidney(1)											7	9	9					6																	32006526		2090	4182	6272	SO:0001583	missense	1589			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.230C>A	6.37:g.32006526C>A	ENSP00000408860:p.Thr77Asn		A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389372	0.42410	.	.	ENSG00000231852	ENST00000418967;ENST00000478281;ENST00000471671	T;T;T	0.68624	-0.34;-0.34;-0.34	4.5	3.62	0.41486	.	0.620952	0.14330	N	0.326422	T	0.47655	0.1457	L	0.58583	1.82	0.27274	N	0.958272	P	0.48294	0.908	P	0.47299	0.543	T	0.27088	-1.0084	10	0.19147	T	0.46	.	7.4614	0.27298	0.0:0.8829:0.0:0.1171	.	77	Q16874	.	N	77	ENSP00000408860:T77N;ENSP00000419572:T77N;ENSP00000418561:T77N	ENSP00000408860:T77N	T	+	2	0	CYP21A2	32114505	0.444000	0.25649	0.932000	0.37286	0.990000	0.78478	1.070000	0.30653	2.046000	0.60703	0.462000	0.41574	ACC		0.542	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		A	32006526	C	A	32006526	3	1	104	1	0	0	0	0	1	0	0	0	4155	507	18	4	1757	4	CYP21A2	6	32006526	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10		32006526	139108541	37	6592											
IGF2R	3482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160468352	160468352	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr6:160468352G>A	ENST00000356956.1	+	16	2361	c.2213G>A	c.(2212-2214)gGc>gAc	p.G738D		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	738					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.G738D(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCGGGAGTGGGCTTCCCTGAA	0.502																																																1	Substitution - Missense(1)	kidney(1)											73	71	72					6																	160468352		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2213G>A	6.37:g.160468352G>A	ENSP00000349437:p.Gly738Asp		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849768	0.71603	.	.	ENSG00000197081	ENST00000356956	T	0.13778	2.56	5.6	5.6	0.85130	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10314	-1.0635	10	0.59425	D	0.04	-8.7716	19.9823	0.97331	0.0:0.0:1.0:0.0	.	738	P11717	MPRI_HUMAN	D	738	ENSP00000349437:G738D	ENSP00000349437:G738D	G	+	2	0	IGF2R	160388342	1.000000	0.71417	0.000000	0.03702	0.240000	0.25518	9.386000	0.97228	2.788000	0.95919	0.650000	0.86243	GGC		0.502	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		A	160468352	G	A	160468352	3	1	104	1	0	0	0	0	1	0	0	0	7578	1203	42	2	2275	2	IGF2R	6	160468352	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	128461826	160468352	10646715	38	6593											
CARD11	84433	broad.mit.edu;ucsc.edu	37	7	2954892	2954892	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr7:2954892G>C	ENST00000396946.4	-	21	3221	c.2818C>G	c.(2818-2820)Ctc>Gtc	p.L940V		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	940					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.L933V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCAGTCAAGAGCTTGGTGGCG	0.622			Mis		DLBCL																																		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	1	Substitution - Missense(1)	kidney(1)											110	101	104					7																	2954892		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2818C>G	7.37:g.2954892G>C	ENSP00000380150:p.Leu940Val		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007210	0.19199	.	.	ENSG00000198286	ENST00000396946	T	0.31769	1.48	4.54	4.54	0.55810	.	0.411886	0.22950	N	0.053675	T	0.20129	0.0484	N	0.14661	0.345	0.26132	N	0.980405	B	0.16396	0.017	B	0.13407	0.009	T	0.13255	-1.0516	10	0.40728	T	0.16	-29.5257	14.4591	0.67438	0.0:0.0:1.0:0.0	.	940	Q9BXL7	CAR11_HUMAN	V	940	ENSP00000380150:L940V	ENSP00000380150:L940V	L	-	1	0	CARD11	2921418	0.860000	0.29831	0.996000	0.52242	0.946000	0.59487	1.969000	0.40510	2.067000	0.61834	0.407000	0.27541	CTC		0.622	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		C	2954892	G	C	2954892	3	2	104	1	0	0	0	0	1	0	0	0	2647	971	34	4	666	4	CARD11	7	2954892	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10		2954892	156183771	39	6594											
DDC	1644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	50611748	50611748	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr7:50611748C>G	ENST00000444124.2	-	2	236	c.36G>C	c.(34-36)gaG>gaC	p.E12D	DDC_ENST00000431062.1_Missense_Mutation_p.E12D|DDC_ENST00000426377.1_Missense_Mutation_p.E12D|DDC_ENST00000380984.4_Missense_Mutation_p.E12D|DDC_ENST00000357936.5_Missense_Mutation_p.E12D|AC018705.5_ENST00000454521.1_RNA	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	12					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.E12D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	AATCCACCATCTCCTTCCCTC	0.537																																																2	Substitution - Missense(2)	kidney(2)											250	193	212					7																	50611748		2203	4300	6503	SO:0001583	missense	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.36G>C	7.37:g.50611748C>G	ENSP00000403644:p.Glu12Asp		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170220	0.57584	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124;ENST00000380984;ENST00000420203;ENST00000432526	T;T;T;T;T;T	0.61274	1.08;1.08;1.08;1.08;1.08;0.12	5.92	2.74	0.32292	Pyridoxal phosphate-dependent transferase, major domain (1);	0.044468	0.85682	D	0.000000	T	0.54191	0.1843	M	0.79123	2.44	0.47441	D	0.999422	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.53514	-0.8428	10	0.44086	T	0.13	-0.7538	8.0552	0.30602	0.0:0.6664:0.1189:0.2147	.	12;12	Q53Y41;P20711	.;DDC_HUMAN	D	12	ENSP00000350616:E12D;ENSP00000399184:E12D;ENSP00000395069:E12D;ENSP00000403644:E12D;ENSP00000370371:E12D;ENSP00000408626:E12D	ENSP00000350616:E12D	E	-	3	2	DDC	50579242	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.660000	0.37397	0.859000	0.35456	0.655000	0.94253	GAG		0.537	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			G	50611748	C	G	50611748	3	3	104	1	0	0	0	0	1	0	0	0	4327	912	32	4	1458	4	DDC	7	50611748	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	47656856	50611748	108526915	40	6595											
C7orf23	79161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	86826037	86826037	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr7:86826037A>T	ENST00000433078.1	-	5	713	c.272T>A	c.(271-273)tTt>tAt	p.F91Y	TMEM243_ENST00000481425.1_5'UTR|TMEM243_ENST00000257637.3_Missense_Mutation_p.F91Y			Q9BU79	TM243_HUMAN	transmembrane protein 243, mitochondrial	91						integral component of membrane (GO:0016021)		p.F91Y(1)									TAGCTTTCTAAATTTCGGTTC	0.313																																																1	Substitution - Missense(1)	kidney(1)											73	71	72					7																	86826037		2203	4300	6503	SO:0001583	missense	0				CCDS5602.1	7q21.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000135185	ENSG00000135185			21707	protein-coding gene	gene with protein product	"MDR1 and mitochondrial taxol resistance associated gene"		"chromosome 7 open reading frame 23"	C7orf23			Standard	NM_024315		Approved	MGC4175, MM-TRAG	uc003uio.3	Q9BU79	OTTHUMG00000130823	ENST00000433078.1:c.272T>A	7.37:g.86826037A>T	ENSP00000398083:p.Phe91Tyr		A4D1C6|B2R9I4|D6W5P1	Missense_Mutation	SNP	ENST00000433078.1	37	CCDS5602.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373396	0.82573	.	.	ENSG00000135185	ENST00000257637;ENST00000433078	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	M	0.74258	2.255	0.80722	D	1	D	0.62365	0.991	D	0.71414	0.973	T	0.80522	-0.1345	9	0.62326	D	0.03	.	15.7232	0.77732	1.0:0.0:0.0:0.0	.	91	Q9BU79	CG023_HUMAN	Y	91	.	ENSP00000257637:F91Y	F	-	2	0	C7orf23	86663973	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.962000	0.93254	2.304000	0.77564	0.528000	0.53228	TTT		0.313	TMEM243-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334412.1	NM_024315		T	86826037	A	T	86826037	3	4	104	1	0	0	0	0	1	0	0	0	2381	14	1	5	88	5	C7orf23	7	86826037	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10	36214289	86826037	72312626	41	6596											
CAPZA2	830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116556165	116556165	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr7:116556165A>T	ENST00000361183.3	+	9	848	c.709A>T	c.(709-711)Aat>Tat	p.N237Y	CAPZA2_ENST00000458284.2_3'UTR	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	237					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.N237Y(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			AGCTGCAGAAAATGAATACCA	0.254																																																1	Substitution - Missense(1)	kidney(1)											21	23	22					7																	116556165		2185	4277	6462	SO:0001583	missense	830				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"F-actin capping protein alpha-2 subunit"	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.709A>T	7.37:g.116556165A>T	ENSP00000354947:p.Asn237Tyr		B4DG50	Missense_Mutation	SNP	ENST00000361183.3	37	CCDS5768.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624034	0.87560	.	.	ENSG00000198898	ENST00000361183	.	.	.	5.54	5.54	0.83059	.	0.047736	0.85682	D	0.000000	T	0.80586	0.4651	M	0.85710	2.77	0.80722	D	1	D	0.61697	0.99	D	0.66979	0.948	D	0.83844	0.0259	9	0.66056	D	0.02	-18.6724	15.6863	0.77411	1.0:0.0:0.0:0.0	.	237	P47755	CAZA2_HUMAN	Y	237	.	ENSP00000354947:N237Y	N	+	1	0	CAPZA2	116343401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.094000	0.94168	2.107000	0.64212	0.477000	0.44152	AAT		0.254	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136		T	116556165	A	T	116556165	3	4	104	1	0	0	0	0	1	0	0	0	2643	14	1	5	743	5	CAPZA2	7	116556165	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10	29730128	116556165	42582498	42	6597											
FAM71F1	84691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	128358917	128358917	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr7:128358917T>C	ENST00000315184.5	+	3	520	c.467T>C	c.(466-468)gTa>gCa	p.V156A	FAM71F1_ENST00000485070.1_Intron|FAM71F1_ENST00000469348.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	156								p.V156A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GAGCTCCAGGTATGTGACCAC	0.478																																																1	Substitution - Missense(1)	kidney(1)											248	218	228					7																	128358917		2203	4300	6503	SO:0001583	missense	84691			AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.467T>C	7.37:g.128358917T>C	ENSP00000326652:p.Val156Ala		Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153556	0.57259	.	.	ENSG00000135248	ENST00000315184;ENST00000466842	T;T	0.26067	1.76;1.76	4.58	4.58	0.56647	.	0.282437	0.25283	N	0.031782	T	0.36908	0.0984	L	0.54323	1.7	0.25325	N	0.989089	D;P;P	0.54601	0.967;0.731;0.773	P;B;B	0.55112	0.769;0.269;0.389	T	0.17715	-1.0360	10	0.87932	D	0	-11.2099	10.519	0.44907	0.0:0.0:0.0:1.0	.	156;156;156	F8WC62;Q96KD3-2;Q96KD3	.;.;F71F1_HUMAN	A	156;12	ENSP00000326652:V156A;ENSP00000417930:V12A	ENSP00000326652:V156A	V	+	2	0	FAM71F1	128146153	0.997000	0.39634	0.977000	0.42913	0.927000	0.56198	2.644000	0.46613	2.052000	0.61016	0.477000	0.44152	GTA		0.478	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		C	128358917	T	C	128358917	3	2	104	1	0	0	0	0	1	0	0	0	5614	1638	57	3	477	3	FAM71F1	7	128358917	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10	11802752	128358917	30779746	43	6598											
NAT1	9	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	18079815	18079815	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr8:18079815A>T	ENST00000517492.1	+	3	897	c.259A>T	c.(259-261)Acg>Tcg	p.T87S	NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000541942.1_Missense_Mutation_p.T87S|NAT1_ENST00000520546.1_Missense_Mutation_p.T87S|NAT1_ENST00000545197.1_Missense_Mutation_p.T149S|NAT1_ENST00000535084.1_Missense_Mutation_p.T87S|NAT1_ENST00000518029.1_Missense_Mutation_p.T87S|NAT1_ENST00000539092.1_Missense_Mutation_p.T87S|NAT1_ENST00000307719.4_Missense_Mutation_p.T87S			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.T149S(1)|p.T87S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TTTTGAGACCACGATGTTGGG	0.473																																																2	Substitution - Missense(2)	kidney(2)											184	167	173					8																	18079815		2203	4300	6503	SO:0001583	missense	9			BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.259A>T	8.37:g.18079815A>T	ENSP00000429407:p.Thr87Ser		C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000517492.1	37	CCDS6007.1	.	.	.	.	.	.	.	.	.	.	.	10.93	1.489446	0.26686	.	.	ENSG00000171428	ENST00000535084;ENST00000307719;ENST00000545197;ENST00000539092;ENST00000541942;ENST00000518029;ENST00000517492;ENST00000520546	T;T;T;T;T;T;T;T	0.02177	4.41;4.41;4.41;4.41;4.41;4.41;4.41;4.41	4.37	3.2	0.36748	.	0.182863	0.46145	D	0.000318	T	0.02970	0.0088	M	0.67953	2.075	0.34956	D	0.751699	P;B	0.39352	0.669;0.183	B;B	0.35510	0.204;0.148	T	0.32188	-0.9916	10	0.56958	D	0.05	.	6.016	0.19603	0.8807:0.0:0.1193:0.0	.	149;87	F5H5R8;P18440	.;ARY1_HUMAN	S	87;87;149;87;87;87;87;87	ENSP00000444609:T87S;ENSP00000307218:T87S;ENSP00000443194:T149S;ENSP00000440434:T87S;ENSP00000440900:T87S;ENSP00000428270:T87S;ENSP00000429407:T87S;ENSP00000429341:T87S	ENSP00000307218:T87S	T	+	1	0	NAT1	18124095	0.056000	0.20664	0.912000	0.35992	0.040000	0.13550	3.611000	0.54132	1.746000	0.51805	0.377000	0.23210	ACG		0.473	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374828.1	NM_000662		T	18079815	A	T	18079815	3	4	104	1	0	0	0	0	1	0	0	0	10175	159	6	5	455	5	NAT1	8	18079815	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10		18079815	128284207	44	6599											
HOOK3	84376	broad.mit.edu;ucsc.edu	37	8	42828459	42828459	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr8:42828459G>A	ENST00000307602.4	+	12	1350	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	384					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.E384K(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CAGATTATCCGAAGAATCAAA	0.299			T	RET	papillary thyroid																																		Dom	yes		8	8p11.21	84376	hook homolog 3		E	1	Substitution - Missense(1)	kidney(1)											56	61	60					8																	42828459		2203	4296	6499	SO:0001583	missense	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1150G>A	8.37:g.42828459G>A	ENSP00000305699:p.Glu384Lys		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881130	0.72294	.	.	ENSG00000168172	ENST00000307602	T	0.19105	2.17	5.45	4.56	0.56223	.	0.044866	0.85682	D	0.000000	T	0.26810	0.0656	M	0.62723	1.935	0.54753	D	0.999989	P	0.45240	0.854	B	0.41571	0.36	T	0.07102	-1.0790	10	0.52906	T	0.07	-17.1775	15.8313	0.78752	0.0:0.0:0.8628:0.1371	.	384	Q86VS8	HOOK3_HUMAN	K	384	ENSP00000305699:E384K	ENSP00000305699:E384K	E	+	1	0	HOOK3	42947616	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	9.252000	0.95491	1.404000	0.46819	0.563000	0.77884	GAA		0.299	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		A	42828459	G	A	42828459	3	1	104	1	0	0	0	0	1	0	0	0	7286	1059	37	1	1196	1	HOOK3	8	42828459	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	24748644	42828459	103535563	45	6600											
PKHD1L1	93035	hgsc.bcm.edu;ucsc.edu	37	8	110523095	110523095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr8:110523095delG	ENST00000378402.5	+	71	11589	c.11485delG	c.(11485-11487)gaafs	p.E3829fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3829					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAATCTTATGAAGTTTACTT	0.443										HNSCC(38;0.096)																																						0													188	183	184					8																	110523095		1939	4152	6091	SO:0001589	frameshift_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11485delG	8.37:g.110523095delG	ENSP00000367655:p.Glu3829fs		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	CCDS47911.1																																																																																				0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		-	110523095	G	-	110523095	7	5	104	1	0	1	0	1	0	0	0	0	11974	1291	45	0	11767	0	PKHD1L1	8	110523095	Frame_Shift_Del	DEL	G	TCGA-AK-3451-01A-02D-1251-10	67694636	110523095	35840927	46	6601											
SLC18A3	6572	broad.mit.edu;ucsc.edu	37	10	50819157	50819157	+	Missense_Mutation	SNP	T	T	G	rs142721677		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr10:50819157T>G	ENST00000374115.3	+	1	811	c.371T>G	c.(370-372)aTc>aGc	p.I124S	CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	124					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.I124S(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GACGTGAAGATCGGGGTGCTG	0.647																																																1	Substitution - Missense(1)	kidney(1)											92	90	91					10																	50819157		2203	4300	6503	SO:0001583	missense	6572			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.371T>G	10.37:g.50819157T>G	ENSP00000363229:p.Ile124Ser		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059243	0.76074	.	.	ENSG00000187714	ENST00000374115	T	0.60672	0.17	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	T	0.73931	0.3650	M	0.73430	2.235	0.58432	D	0.999996	D	0.60160	0.987	D	0.66196	0.942	T	0.77723	-0.2481	10	0.66056	D	0.02	-14.2133	14.603	0.68456	0.0:0.0:0.0:1.0	.	124	Q16572	VACHT_HUMAN	S	124	ENSP00000363229:I124S	ENSP00000363229:I124S	I	+	2	0	SLC18A3	50489163	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.781000	0.85668	1.859000	0.53934	0.459000	0.35465	ATC		0.647	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		G	50819157	T	G	50819157	3	3	104	1	0	0	0	0	1	0	0	0	14433	1435	50	5	373	5	SLC18A3	10	50819157	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10		50819157	84715590	47	6602											
KIF20B	9585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	91469205	91469205	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr10:91469205T>G	ENST00000371728.3	+	4	403	c.338T>G	c.(337-339)tTc>tGc	p.F113C	KIF20B_ENST00000416354.1_Missense_Mutation_p.F113C|KIF20B_ENST00000394289.2_Missense_Mutation_p.F113C|KIF20B_ENST00000260753.4_Missense_Mutation_p.F113C	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	113	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.F113C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCACAGAAATTCAGTTTTTCC	0.358																																																1	Substitution - Missense(1)	kidney(1)											83	82	82					10																	91469205		2203	4300	6503	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.338T>G	10.37:g.91469205T>G	ENSP00000360793:p.Phe113Cys		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	T	21.1	4.104206	0.76983	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	D;D;D;D;T	0.83335	-1.71;-1.71;-1.71;-1.71;1.42	5.26	5.26	0.73747	Kinesin, motor domain (4);	0.000000	0.50627	D	0.000118	D	0.91700	0.7376	M	0.85041	2.73	0.80722	D	1	D;P	0.89917	1.0;0.746	D;P	0.91635	0.999;0.79	D	0.92906	0.6343	10	0.66056	D	0.02	-8.9819	15.4672	0.75409	0.0:0.0:0.0:1.0	.	113;113	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	C	113	ENSP00000260753:F113C;ENSP00000411545:F113C;ENSP00000377830:F113C;ENSP00000360793:F113C;ENSP00000390946:F113C	ENSP00000260753:F113C	F	+	2	0	KIF20B	91459185	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.613000	0.74192	2.104000	0.64026	0.533000	0.62120	TTC		0.358	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		G	91469205	T	G	91469205	3	3	104	1	0	0	0	0	1	0	0	0	8289	1783	62	5	348	5	KIF20B	10	91469205	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10	40650048	91469205	44065542	48	6603											
AFAP1L2	84632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	116082996	116082996	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr10:116082996T>G	ENST00000304129.4	-	5	369	c.340A>C	c.(340-342)Atc>Ctc	p.I114L	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.I114L|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.I167L			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	114					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)	p.I132L(1)|p.I114L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTCTTTGGGATGGCAAGCTGT	0.502																																																2	Substitution - Missense(2)	kidney(2)											111	91	97					10																	116082996		2203	4300	6503	SO:0001583	missense	84632			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.340A>C	10.37:g.116082996T>G	ENSP00000303042:p.Ile114Leu		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	T	2.338	-0.351880	0.05173	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.85	-7.11	0.01542	.	0.848839	0.10530	N	0.663895	T	0.16557	0.0398	N	0.02368	-0.58	0.09310	N	1	B;B;B;B;B	0.26876	0.162;0.101;0.002;0.001;0.0	B;B;B;B;B	0.23419	0.046;0.02;0.007;0.002;0.001	T	0.38090	-0.9677	10	0.08381	T	0.77	-5.8642	13.2831	0.60226	0.0:0.673:0.0902:0.2368	.	167;168;114;114;114	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	L	114;114;113;132;167;132	ENSP00000358276:I114L;ENSP00000303042:I114L;ENSP00000444511:I167L;ENSP00000396781:I132L	ENSP00000303042:I114L	I	-	1	0	AFAP1L2	116072986	0.000000	0.05858	0.009000	0.14445	0.499000	0.33736	-0.460000	0.06720	-1.212000	0.02620	0.528000	0.53228	ATC		0.502	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		G	116082996	T	G	116082996	3	3	104	1	0	0	0	0	1	0	0	0	355	1464	51	5	2176	5	AFAP1L2	10	116082996	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10	24613791	116082996	19451751	49	6604											
MUC2	4583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1097746	1097746	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:1097746C>T	ENST00000441003.2	+	36	6866	c.6839C>T	c.(6838-6840)tCc>tTc	p.S2280F	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4642					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.S2280F(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGATCGTCTCCAACTGTGAG	0.637																																																1	Substitution - Missense(1)	kidney(1)											57	63	61					11																	1097746		2143	4248	6391	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6839C>T	11.37:g.1097746C>T	ENSP00000415183:p.Ser2280Phe		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	5.114	0.206619	0.09704	.	.	ENSG00000198788	ENST00000441003	T	0.14144	2.53	3.67	-0.826	0.10805	.	.	.	.	.	T	0.23370	0.0565	M	0.66297	2.02	0.09310	N	1	D	0.61080	0.989	P	0.53809	0.735	T	0.12502	-1.0545	9	0.72032	D	0.01	.	8.9629	0.35858	0.5363:0.3408:0.1229:0.0	.	2280	E7EUV1	.	F	2280	ENSP00000415183:S2280F	ENSP00000415183:S2280F	S	+	2	0	MUC2	1087746	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.231000	0.17872	-0.413000	0.07507	0.561000	0.74099	TCC		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1097746	C	T	1097746	3	4	104	1	0	0	0	0	1	0	0	0	9977	855	30	2	6973	2	MUC2	11	1097746	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10		1097746	133908770	50	6605											
TSPAN32	10077	hgsc.bcm.edu;ucsc.edu	37	11	2329985	2329985	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:2329985T>A	ENST00000182290.4	+	4	436	c.299T>A	c.(298-300)cTg>cAg	p.L100Q	TSPAN32_ENST00000483227.1_Intron|TSPAN32_ENST00000381121.3_Missense_Mutation_p.L100Q|TSPAN32_ENST00000451520.2_Missense_Mutation_p.L89Q	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	100					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGCTTCTCCCTGGCGTTCTGC	0.687																																																0													41	37	38					11																	2329985		2190	4288	6478	SO:0001583	missense	10077			AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"Tetraspanins"	13410	protein-coding gene	gene with protein product		603853	"pan-hematopoietic expression"	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.299T>A	11.37:g.2329985T>A	ENSP00000182290:p.Leu100Gln		Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	ENST00000182290.4	37	CCDS7733.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641570	0.47153	.	.	ENSG00000064201	ENST00000182290;ENST00000381121;ENST00000451520;ENST00000444307	D;D;D	0.82526	-1.62;-1.62;-1.62	2.74	2.74	0.32292	.	0.240568	0.21095	U	0.080251	D	0.87861	0.6284	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.76494	0.997;0.98;0.999;0.998	D;P;D;D	0.87578	0.959;0.788;0.998;0.959	D	0.87431	0.2388	10	0.87932	D	0	.	9.2466	0.37529	0.0:0.0:0.0:1.0	.	87;100;100;89	B4DQ90;Q96QS1-3;Q96QS1;F8WCN6	.;.;TSN32_HUMAN;.	Q	100;100;89;70	ENSP00000182290:L100Q;ENSP00000370513:L100Q;ENSP00000405205:L89Q	ENSP00000182290:L100Q	L	+	2	0	TSPAN32	2286561	0.984000	0.35163	0.097000	0.21041	0.109000	0.19521	3.262000	0.51538	1.222000	0.43521	0.397000	0.26171	CTG		0.687	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		A	2329985	T	A	2329985	3	1	104	1	0	0	0	0	1	0	0	0	16652	1580	55	5	313	5	TSPAN32	11	2329985	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10	1232239	2329985	132676531	51	6606											
ZDHHC5	25921	broad.mit.edu;ucsc.edu	37	11	57440598	57440598	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:57440598C>A	ENST00000287169.3	+	2	1398	c.36C>A	c.(34-36)agC>agA	p.S12R	ZDHHC5_ENST00000527985.1_Intron	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	12					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S12R(1)		endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCAAACCCAGCAAGTATGTCC	0.562																																																1	Substitution - Missense(1)	kidney(1)											133	119	123					11																	57440598		2201	4296	6497	SO:0001583	missense	25921			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.36C>A	11.37:g.57440598C>A	ENSP00000287169:p.Ser12Arg		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196647	0.79015	.	.	ENSG00000156599	ENST00000287169	T	0.37235	1.21	6.03	6.03	0.97812	.	0.181959	0.56097	D	0.000033	T	0.61123	0.2322	M	0.69823	2.125	0.80722	D	1	D	0.63880	0.993	D	0.64506	0.926	T	0.60136	-0.7322	10	0.66056	D	0.02	-18.4686	20.1703	0.98158	0.0:1.0:0.0:0.0	.	12	Q9C0B5	ZDHC5_HUMAN	R	12	ENSP00000287169:S12R	ENSP00000287169:S12R	S	+	3	2	ZDHHC5	57197174	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.596000	0.67570	2.868000	0.98415	0.557000	0.71058	AGC		0.562	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		A	57440598	C	A	57440598	3	1	104	1	0	0	0	0	1	0	0	0	17623	709	25	4	38	4	ZDHHC5	11	57440598	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	55110613	57440598	77565918	52	6607											
PRPF19	27339	broad.mit.edu;ucsc.edu	37	11	60658678	60658678	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:60658678G>A	ENST00000227524.4	-	16	1680	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.S492L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CATGCCTGTTGAAGCGATGAA	0.542																																																1	Substitution - Missense(1)	kidney(1)											80	67	71					11																	60658678		2203	4299	6502	SO:0001583	missense	27339			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1475C>T	11.37:g.60658678G>A	ENSP00000227524:p.Ser492Leu			Missense_Mutation	SNP	ENST00000227524.4	37	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158961	0.78226	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	D;T	0.84146	-1.81;-0.67	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	M	0.90483	3.12	0.80722	D	1	D	0.65815	0.995	D	0.67725	0.953	D	0.94038	0.7307	10	0.62326	D	0.03	-11.1815	16.9259	0.86176	0.0:0.0:1.0:0.0	.	492	Q9UMS4	PRP19_HUMAN	L	492;107	ENSP00000227524:S492L;ENSP00000445435:S107L	ENSP00000227524:S492L	S	-	2	0	PRPF19	60415254	1.000000	0.71417	0.317000	0.25265	0.995000	0.86356	8.616000	0.90924	2.763000	0.94921	0.637000	0.83480	TCA		0.542	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		A	60658678	G	A	60658678	3	1	104	1	0	0	0	0	1	0	0	0	12569	1294	45	2	43	2	PRPF19	11	60658678	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	3218080	60658678	74347838	53	6608											
KDM4D	55693	broad.mit.edu;hgsc.bcm.edu	37	11	94730799	94730799	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:94730799A>G	ENST00000335080.5	+	3	1095	c.263A>G	c.(262-264)cAa>cGa	p.Q88R	KDM4D_ENST00000536741.1_Missense_Mutation_p.Q88R	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	88					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.Q88R(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTGTTTACTCAATACCATAAA	0.443																																																1	Substitution - Missense(1)	kidney(1)											53	58	57					11																	94730799		2201	4298	6499	SO:0001583	missense	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.263A>G	11.37:g.94730799A>G	ENSP00000334181:p.Gln88Arg		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312400	0.40895	.	.	ENSG00000186280	ENST00000335080	T	0.40225	1.04	3.91	2.76	0.32466	.	0.000000	0.64402	U	0.000005	T	0.64962	0.2646	M	0.89214	3.015	0.44966	D	0.997981	D	0.89917	1.0	D	0.91635	0.999	T	0.66320	-0.5953	10	0.56958	D	0.05	-14.2464	8.2463	0.31691	0.822:0.0:0.0:0.178	.	88	Q6B0I6	KDM4D_HUMAN	R	88	ENSP00000334181:Q88R	ENSP00000334181:Q88R	Q	+	2	0	KDM4D	94370447	1.000000	0.71417	0.834000	0.33040	0.077000	0.17291	8.768000	0.91737	0.832000	0.34804	-0.496000	0.04628	CAA		0.443	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		G	94730799	A	G	94730799	3	3	104	1	0	0	0	0	1	0	0	0	8133	130	5	3	265	3	KDM4D	11	94730799	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10	34072121	94730799	40275717	54	6609											
ALKBH8	91801	hgsc.bcm.edu;ucsc.edu	37	11	107375782	107375782	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:107375782delT	ENST00000428149.2	-	12	1748	c.1597delA	c.(1597-1599)agtfs	p.S533fs	ALKBH8_ENST00000389568.3_Frame_Shift_Del_p.S533fs|ALKBH8_ENST00000417449.2_Frame_Shift_Del_p.S536fs|ALKBH8_ENST00000429370.1_Intron	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	533	Methyltransferase domain.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GAGGTATCACTGTTCATCTCC	0.453																																																0													182	155	163					11																	107375782		692	1591	2283	SO:0001589	frameshift_variant	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"Alkylation repair homologs", "RNA binding motif (RRM) containing"	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.1597delA	11.37:g.107375782delT	ENSP00000415885:p.Ser533fs		B1Q2M0|B4DEF6|Q8N989	Frame_Shift_Del	DEL	ENST00000428149.2	37	CCDS8337.2																																																																																				0.453	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		-	107375782	T	-	107375782	7	5	104	1	0	1	0	1	0	0	0	0	533	1580	55	0	401	0	ALKBH8	11	107375782	Frame_Shift_Del	DEL	T	TCGA-AK-3451-01A-02D-1251-10	12644983	107375782	27630734	55	6610											
ABCG4	64137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119031335	119031335	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:119031335C>A	ENST00000449422.2	+	14	1872	c.1684C>A	c.(1684-1686)Ctg>Atg	p.L562M	ABCG4_ENST00000307417.3_Missense_Mutation_p.L562M|ABCG4_ENST00000531739.1_Missense_Mutation_p.L562M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	562	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L562M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCCACTTACCTGCAATGGAG	0.582																																																1	Substitution - Missense(1)	kidney(1)											221	209	213					11																	119031335		2200	4295	6495	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1684C>A	11.37:g.119031335C>A	ENSP00000406874:p.Leu562Met		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742429	0.69418	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.75050	-0.9;-0.9;-0.9	5.49	2.57	0.30868	ABC-2 type transporter (1);	0.071779	0.64402	D	0.000017	T	0.73313	0.3571	L	0.47190	1.495	0.46798	D	0.9992	P	0.43392	0.805	P	0.52031	0.688	T	0.66288	-0.5961	10	0.29301	T	0.29	-4.2931	9.2749	0.37694	0.0:0.6981:0.0:0.3019	.	562	Q9H172	ABCG4_HUMAN	M	562	ENSP00000304111:L562M;ENSP00000406874:L562M;ENSP00000434318:L562M	ENSP00000304111:L562M	L	+	1	2	ABCG4	118536545	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.701000	0.47094	0.287000	0.22375	0.558000	0.71614	CTG		0.582	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		A	119031335	C	A	119031335	3	1	104	1	0	0	0	0	1	0	0	0	70	680	24	4	1734	4	ABCG4	11	119031335	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	11655553	119031335	15975181	56	6611											
OR8B12	219858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124413242	124413242	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:124413242G>T	ENST00000306842.2	-	1	333	c.309C>A	c.(307-309)ttC>ttA	p.F103L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F103L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CAAAGAAGCAGAAGAAGAAGA	0.468																																																1	Substitution - Missense(1)	kidney(1)											90	83	85					11																	124413242		2201	4299	6500	SO:0001583	missense	219858				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.309C>A	11.37:g.124413242G>T	ENSP00000307159:p.Phe103Leu		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943894	0.34283	.	.	ENSG00000170953	ENST00000306842	T	0.00309	8.16	3.89	0.928	0.19443	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.00210	0.0006	M	0.62088	1.915	0.29941	N	0.821075	B	0.18610	0.029	B	0.20955	0.032	T	0.36065	-0.9763	10	0.66056	D	0.02	.	3.5124	0.07713	0.0864:0.1449:0.4712:0.2975	.	103	Q8NGG6	OR8BC_HUMAN	L	103	ENSP00000307159:F103L	ENSP00000307159:F103L	F	-	3	2	OR8B12	123918452	0.000000	0.05858	0.999000	0.59377	0.633000	0.38033	-0.947000	0.03901	0.215000	0.20761	-0.142000	0.14014	TTC		0.468	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			T	124413242	G	T	124413242	3	4	104	1	0	0	0	0	1	0	0	0	11228	933	33	4	625	4	OR8B12	11	124413242	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	5381907	124413242	10593274	57	6612											
CLEC9A	283420	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10217396	10217396	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:10217396G>C	ENST00000355819.1	+	8	1150	c.537G>C	c.(535-537)caG>caC	p.Q179H		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	179	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Q179H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GGTTGTCTCAGGATGGACACA	0.438																																																1	Substitution - Missense(1)	kidney(1)											136	128	131					12																	10217396		2203	4300	6503	SO:0001583	missense	283420				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"C-type lectin domain containing"	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.537G>C	12.37:g.10217396G>C	ENSP00000348074:p.Gln179His		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944899	0.18356	.	.	ENSG00000197992	ENST00000355819	T	0.17054	2.3	5.24	1.35	0.21983	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.219310	0.23912	N	0.043325	T	0.25680	0.0625	L	0.46157	1.445	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.14755	-1.0461	10	0.16420	T	0.52	.	7.4481	0.27223	0.3698:0.0:0.6302:0.0	.	179	Q6UXN8	CLC9A_HUMAN	H	179	ENSP00000348074:Q179H	ENSP00000348074:Q179H	Q	+	3	2	CLEC9A	10108663	0.012000	0.17670	0.005000	0.12908	0.060000	0.15804	0.220000	0.17660	0.134000	0.18681	-0.136000	0.14681	CAG		0.438	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		C	10217396	G	C	10217396	3	2	104	1	0	0	0	0	1	0	0	0	3524	991	35	4	555	4	CLEC9A	12	10217396	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10		10217396	123634499	58	6613											
ZNF641	121274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48737147	48737147	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:48737147C>T	ENST00000544117.2	-	6	1634	c.926G>A	c.(925-927)aGg>aAg	p.R309K	ZNF641_ENST00000301042.3_Missense_Mutation_p.R309K|ZNF641_ENST00000547026.1_Missense_Mutation_p.R295K|ZNF641_ENST00000448928.3_Missense_Mutation_p.R286K			Q96N77	ZN641_HUMAN	zinc finger protein 641	309					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R309K(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TTTCTGGTGCCTGATGAGGTG	0.537																																																1	Substitution - Missense(1)	kidney(1)											180	162	168					12																	48737147		2203	4300	6503	SO:0001583	missense	121274			BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"Zinc fingers, C2H2-type", "-"	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.926G>A	12.37:g.48737147C>T	ENSP00000437832:p.Arg309Lys		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612667	0.46631	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.19127	0.0459	L	0.48642	1.525	0.09310	N	1	D;P	0.59357	0.985;0.826	P;B	0.47044	0.535;0.34	T	0.19128	-1.0315	10	0.16896	T	0.51	.	12.5573	0.56261	0.1662:0.8338:0.0:0.0	.	286;309	B4DNU5;Q96N77	.;ZN641_HUMAN	K	309;309;286;295	ENSP00000301042:R309K;ENSP00000437832:R309K;ENSP00000394627:R286K;ENSP00000449974:R295K	ENSP00000301042:R309K	R	-	2	0	ZNF641	47023414	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.888000	0.01616	2.837000	0.97791	0.655000	0.94253	AGG		0.537	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		T	48737147	C	T	48737147	3	4	104	1	0	0	0	0	1	0	0	0	18062	681	24	2	394	2	ZNF641	12	48737147	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	38519751	48737147	85114748	59	6614											
MBD6	114785	broad.mit.edu;ucsc.edu	37	12	57921633	57921633	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:57921633G>T	ENST00000355673.3	+	9	2595	c.2239G>T	c.(2239-2241)Gac>Tac	p.D747Y	MBD6_ENST00000431731.2_Missense_Mutation_p.D747Y	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	747	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.D747Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCAACAGGTGACCTGTCTTC	0.557																																																1	Substitution - Missense(1)	kidney(1)											110	119	116					12																	57921633		2202	4297	6499	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2239G>T	12.37:g.57921633G>T	ENSP00000347896:p.Asp747Tyr		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087537	0.36855	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.94	4.94	0.65067	.	0.122045	0.35805	N	0.002972	T	0.53899	0.1825	N	0.08118	0	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.63541	-0.6614	9	0.72032	D	0.01	-6.2877	15.5552	0.76187	0.0:0.0:1.0:0.0	.	747;747	Q6P0P0;Q96DN6	.;MBD6_HUMAN	Y	747;747;211	.	ENSP00000300263:D211Y	D	+	1	0	MBD6	56207900	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.137000	0.64789	2.728000	0.93425	0.561000	0.74099	GAC		0.557	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			T	57921633	G	T	57921633	3	4	104	1	0	0	0	0	1	0	0	0	9350	1290	45	4	2265	4	MBD6	12	57921633	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	9184486	57921633	75930262	60	6615											
CAND1	55832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	67700071	67700071	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:67700071G>A	ENST00000545606.1	+	10	3060	c.2623G>A	c.(2623-2625)Gct>Act	p.A875T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	875					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.A875T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGTCAAATCAGCTGCATCCTA	0.413																																																1	Substitution - Missense(1)	kidney(1)											121	116	118					12																	67700071		2203	4300	6503	SO:0001583	missense	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2623G>A	12.37:g.67700071G>A	ENSP00000442318:p.Ala875Thr		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227864	0.79576	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.21734	1.99;1.99	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.983	T	0.72940	-0.4139	9	.	.	.	-13.8979	19.377	0.94514	0.0:0.0:1.0:0.0	.	707;875	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	T	875;875;415	ENSP00000442318:A875T;ENSP00000444089:A415T	.	A	+	1	0	CAND1	65986338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.793000	0.99091	2.586000	0.87340	0.561000	0.74099	GCT		0.413	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		A	67700071	G	A	67700071	3	1	104	1	0	0	0	0	1	0	0	0	2617	971	34	2	2661	2	CAND1	12	67700071	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	9778438	67700071	66151824	61	6616											
DYRK2	8445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	68052356	68052356	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:68052356A>C	ENST00000344096.3	+	3	2082	c.1669A>C	c.(1669-1671)Acc>Ccc	p.T557P	DYRK2_ENST00000393555.3_Missense_Mutation_p.T484P|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	557					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.T557P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		AACTGAGAGCACCGGTGCTAT	0.532																																																1	Substitution - Missense(1)	kidney(1)											172	171	172					12																	68052356		2203	4300	6503	SO:0001583	missense	8445			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1669A>C	12.37:g.68052356A>C	ENSP00000342105:p.Thr557Pro		B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	A	8.991	0.977800	0.18812	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.67523	-0.27;-0.26	5.58	3.19	0.36642	.	0.196800	0.53938	D	0.000056	T	0.54631	0.1870	L	0.46157	1.445	0.50467	D	0.999871	B	0.23806	0.091	B	0.25405	0.06	T	0.41431	-0.9509	9	.	.	.	.	7.2986	0.26408	0.792:0.0:0.0699:0.1381	.	557	Q92630	DYRK2_HUMAN	P	557;484	ENSP00000342105:T557P;ENSP00000377186:T484P	.	T	+	1	0	DYRK2	66338623	0.996000	0.38824	0.996000	0.52242	0.952000	0.60782	0.704000	0.25661	0.469000	0.27268	0.379000	0.24179	ACC		0.532	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			C	68052356	A	C	68052356	3	2	104	1	0	0	0	0	1	0	0	0	4858	159	6	5	1679	5	DYRK2	12	68052356	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10	352285	68052356	65799539	62	6617											
STX2	2054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	131311785	131311785	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:131311785C>G	ENST00000392373.2	-	2	152	c.58G>C	c.(58-60)Gtt>Ctt	p.V20L	STX2_ENST00000261653.6_Missense_Mutation_p.V20L	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	20					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)	p.V20L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		ACCACAACAACTGTGTCTCCA	0.368																																																2	Substitution - Missense(2)	kidney(2)											143	131	135					12																	131311785		2203	4300	6503	SO:0001583	missense	2054			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"epimorphin"	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.58G>C	12.37:g.131311785C>G	ENSP00000376178:p.Val20Leu		Q86VW8	Missense_Mutation	SNP	ENST00000392373.2	37	CCDS9270.1	.	.	.	.	.	.	.	.	.	.	C	1.813	-0.474133	0.04414	.	.	ENSG00000111450	ENST00000261653;ENST00000392373	T;T	0.48201	0.82;1.23	4.49	-0.736	0.11133	.	2.035580	0.01766	N	0.030866	T	0.47911	0.1471	M	0.78637	2.42	0.09310	N	1	B;B;B	0.17268	0.015;0.015;0.021	B;B;B	0.14578	0.006;0.006;0.011	T	0.09207	-1.0685	10	0.29301	T	0.29	-14.5413	5.0437	0.14473	0.0:0.4081:0.1754:0.4165	.	20;20;20	P32856-3;P32856-2;P32856	.;.;STX2_HUMAN	L	20	ENSP00000261653:V20L;ENSP00000376178:V20L	ENSP00000261653:V20L	V	-	1	0	STX2	129877738	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.022000	0.12480	-0.405000	0.07599	-0.468000	0.05107	GTT		0.368	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356		G	131311785	C	G	131311785	3	3	104	1	0	0	0	0	1	0	0	0	15350	565	20	4	926	4	STX2	12	131311785	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	63259429	131311785	2540110	63	6618											
NBEA	26960	broad.mit.edu	37	13	35738588	35738588	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr13:35738588A>G	ENST00000400445.3	+	24	4709	c.4175A>G	c.(4174-4176)aAc>aGc	p.N1392S	NBEA_ENST00000379939.2_Missense_Mutation_p.N1392S|NBEA_ENST00000540320.1_Missense_Mutation_p.N1392S|NBEA_ENST00000310336.4_Missense_Mutation_p.N1392S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1392					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.N1392S(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGGTAGACAACATCATCATT	0.333																																																1	Substitution - Missense(1)	kidney(1)											151	140	143					13																	35738588		1903	4131	6034	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4175A>G	13.37:g.35738588A>G	ENSP00000383295:p.Asn1392Ser		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071559	0.76301	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.76	5.76	0.90799	.	0.047734	0.85682	D	0.000000	T	0.66386	0.2784	L	0.46885	1.475	0.80722	D	1	D;P	0.69078	0.997;0.573	D;B	0.75020	0.985;0.235	T	0.65282	-0.6206	10	0.44086	T	0.13	.	16.3786	0.83431	1.0:0.0:0.0:0.0	.	1392;1392	Q8NFP9;Q5T321	NBEA_HUMAN;.	S	1392;1392;1392;1392;54	ENSP00000440951:N1392S;ENSP00000383295:N1392S;ENSP00000369271:N1392S;ENSP00000308534:N1392S	ENSP00000308534:N1392S	N	+	2	0	NBEA	34636588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.276000	0.95745	2.323000	0.78572	0.528000	0.53228	AAC		0.333	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		G	35738588	A	G	35738588	3	3	104	1	0	0	0	0	1	0	0	0	10189	43	2	3	4269	3	NBEA	13	35738588	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10		35738588	79431290	64	6619											
KIAA0564	23078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42263606	42263606	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr13:42263606G>T	ENST00000379310.3	-	34	4083	c.4015C>A	c.(4015-4017)Caa>Aaa	p.Q1339K	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1339						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q1339K(1)									GATGATAGTTGATCACTGGAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											93	85	88					13																	42263606		1824	4084	5908	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4015C>A	13.37:g.42263606G>T	ENSP00000368612:p.Gln1339Lys		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571944	0.45798	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000478987	T	0.09817	2.94	5.21	5.21	0.72293	.	0.069768	0.56097	D	0.000021	T	0.11707	0.0285	L	0.47716	1.5	0.80722	D	1	P	0.38922	0.651	B	0.32677	0.15	T	0.10291	-1.0636	10	0.29301	T	0.29	.	19.1184	0.93351	0.0:0.0:1.0:0.0	.	1339	A3KMH1	K0564_HUMAN	K	1243;1339;110	ENSP00000368612:Q1339K	ENSP00000251030:Q1243K	Q	-	1	0	KIAA0564	41161606	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.018000	0.93657	2.600000	0.87896	0.650000	0.86243	CAA		0.363	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		T	42263606	G	T	42263606	3	4	104	1	0	0	0	0	1	0	0	0	8187	1299	45	4	1750	4	KIAA0564	13	42263606	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02D-1251-10	6525018	42263606	72906272	65	6620											
RBM23	55147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23371499	23371499	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr14:23371499C>A	ENST00000359890.3	-	11	1218	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	RBM23_ENST00000346528.5_Missense_Mutation_p.E307D|RBM23_ENST00000542016.2_Missense_Mutation_p.E171D|RBM23_ENST00000399922.2_Missense_Mutation_p.E325D|RBM23_ENST00000555209.1_Missense_Mutation_p.E91D	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	341	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E341D(1)		endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CATCCAGTCGCTCAGTCACAT	0.547																																																1	Substitution - Missense(1)	kidney(1)											73	72	72					14																	23371499		2013	4198	6211	SO:0001583	missense	55147			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"RNA binding motif (RRM) containing"	20155	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen recep- tors beta"		"RNA-binding region (RNP1, RRM) containing 4"	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1023G>T	14.37:g.23371499C>A	ENSP00000352956:p.Glu341Asp		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	37	CCDS41921.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.870|4.870	0.161721|0.161721	0.09287|0.09287	.|.	.|.	ENSG00000100461|ENSG00000100461	ENST00000553884|ENST00000555209;ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000542016	.|T;T;T;T;T	.|0.74002	.|-0.8;-0.8;-0.8;-0.8;-0.8	4.82|4.82	-1.4|-1.4	0.08968|0.08968	.|RNA recognition motif domain (1);	.|0.100828	.|0.41396	.|D	.|0.000888	T|T	0.43590|0.43590	0.1254|0.1254	N|N	0.04116|0.04116	-0.275|-0.275	0.36579|0.36579	D|D	0.873423|0.873423	.|B;B;B	.|0.17465	.|0.003;0.003;0.022	.|B;B;B	.|0.19391	.|0.017;0.025;0.024	T|T	0.11690|0.11690	-1.0577|-1.0577	5|10	.|0.14656	.|T	.|0.56	-15.9089|-15.9089	6.3639|6.3639	0.21443|0.21443	0.1335:0.3068:0.0:0.5598|0.1335:0.3068:0.0:0.5598	.|.	.|307;325;341	.|Q86U06-4;Q86U06-2;Q86U06	.|.;.;RBM23_HUMAN	S|D	116|91;341;318;325;307;171	.|ENSP00000452602:E91D;ENSP00000352956:E341D;ENSP00000382806:E325D;ENSP00000339220:E307D;ENSP00000438504:E171D	.|ENSP00000345496:E318D	A|E	-|-	1|3	0|2	RBM23|RBM23	22441339|22441339	0.928000|0.928000	0.31464|0.31464	0.044000|0.044000	0.18714|0.18714	0.024000|0.024000	0.10985|0.10985	0.170000|0.170000	0.16663|0.16663	-0.500000|-0.500000	0.06614|0.06614	-0.251000|-0.251000	0.11542|0.11542	GCG|GAG		0.547	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			A	23371499	C	A	23371499	3	1	104	1	0	0	0	0	1	0	0	0	13129	796	28	4	312	4	RBM23	14	23371499	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10		23371499	83978041	66	6621											
PIAS1	8554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68445966	68445966	+	Silent	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr15:68445966C>T	ENST00000249636.6	+	7	1015	c.867C>T	c.(865-867)tcC>tcT	p.S289S	PIAS1_ENST00000545237.1_Silent_p.S291S	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	289					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S289S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AACAGTTGTCCTCAACAGTTC	0.323																																																1	Substitution - coding silent(1)	kidney(1)											99	93	94					15																	68445966		1830	4083	5913	SO:0001819	synonymous_variant	8554			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.867C>T	15.37:g.68445966C>T			B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Silent	SNP	ENST00000249636.6	37	CCDS45290.1																																																																																				0.323	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			T	68445966	C	T	68445966	2	4	104	1	0	0	0	0	0	0	0	1	11877	668	24	2		2	PIAS1	15	68445966	Silent	SNP	C	TCGA-AK-3451-01A-02D-1251-10		68445966	34085426	67	6622											
PKD1	5310	broad.mit.edu;hgsc.bcm.edu	37	16	2158399	2158400	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr16:2158399_2158400CC>AA	ENST00000262304.4	-	15	6976_6977	c.6768_6769GG>TT	c.(6766-6771)ctGGtg>ctTTtg	p.V2257L	PKD1_ENST00000423118.1_Missense_Mutation_p.V2257L|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2257	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L2256L(1)|p.V2257L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATGATGGGCACCAGGCGCTCGG	0.619																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6768_6769delinsAA	16.37:g.2158399_2158400delinsAA	ENSP00000262304:p.Val2257Leu		Q15140|Q15141	Missense_Mutation|Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																				0.619	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			AA	2158400	CC	AA	2158399	3	1	104	1	0	0	0	0	1	0	0	0	11965	507	18	4	6270	4	PKD1	16	2158399	Missense_Mutation	DNP	CC	TCGA-AK-3451-01A-02D-1251-10		2158399	88196354	68	6623											
OR1F1	4992	hgsc.bcm.edu;ucsc.edu	37	16	3254418	3254418	+	Missense_Mutation	SNP	C	C	A	rs61731432	byFrequency	TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr16:3254418C>A	ENST00000304646.2	+	1	172	c.172C>A	c.(172-174)Ccc>Acc	p.P58T	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	58					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCTGCACACCCCCATGTACTT	0.532																																																0													223	185	198					16																	3254418		2197	4300	6497	SO:0001583	missense	4992			Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"GPCR / Class A : Olfactory receptors"	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.172C>A	16.37:g.3254418C>A	ENSP00000305424:p.Pro58Thr		O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448435	0.63178	.	.	ENSG00000168124	ENST00000304646	T	0.02032	4.49	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000032	T	0.22126	0.0533	H	0.99026	4.405	0.48395	D	0.999645	D	0.58620	0.983	P	0.58454	0.839	T	0.47249	-0.9132	10	0.87932	D	0	.	16.3456	0.83132	0.0:1.0:0.0:0.0	.	58	O43749	OR1F1_HUMAN	T	58	ENSP00000305424:P58T	ENSP00000305424:P58T	P	+	1	0	OR1F1	3194419	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	4.559000	0.60796	2.451000	0.82905	0.385000	0.25706	CCC		0.532	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			A	3254418	C	A	3254418	3	1	104	1	0	0	0	0	1	0	0	0	10958	623	22	4	174	4	OR1F1	16	3254418	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	1096019	3254418	87100335	69	6624											
KARS	3735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	75678248	75678248	+	Intron	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr16:75678248G>A	ENST00000302445.3	-	2	102				KARS_ENST00000319410.5_Silent_p.L27L|KARS_ENST00000568378.1_Silent_p.L27L	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase						cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)	p.L27L(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CCCAGTCGCAGTTCCCTGTGA	0.522																																																1	Substitution - coding silent(1)	kidney(1)											60	54	56					16																	75678248		1568	3582	5150	SO:0001627	intron_variant	3735			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.63-2627C>T	16.37:g.75678248G>A			A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	ENST00000302445.3	37	CCDS10923.1																																																																																				0.522	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		A	75678248	G	A	75678248	1	1	104	0	1	0	0	0	0	0	0	0	7982	1020	36	2		2	KARS	16	75678248	Intron	SNP	G	TCGA-AK-3451-01A-02D-1251-10	72423830	75678248	14676505	70	6625											
CHD3	1107	broad.mit.edu;ucsc.edu	37	17	7805978	7805978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:7805978C>A	ENST00000330494.7	+	21	3453	c.3303C>A	c.(3301-3303)taC>taA	p.Y1101*	CHD3_ENST00000358181.4_Nonsense_Mutation_p.Y1101*|CHD3_ENST00000380358.4_Nonsense_Mutation_p.Y1160*	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1101	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y1101*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGAAGGCTACAAGTATGAGC	0.502																																																1	Substitution - Nonsense(1)	kidney(1)											204	182	190					17																	7805978		2203	4300	6503	SO:0001587	stop_gained	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3303C>A	17.37:g.7805978C>A	ENSP00000332628:p.Tyr1101*		D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	36	5.945040	0.97134	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	.	.	.	4.53	2.49	0.30216	.	0.000000	0.36338	N	0.002655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9813	8.6862	0.34238	0.0:0.7598:0.0:0.2402	.	.	.	.	X	1160;1101;1101	.	ENSP00000332628:Y1101X	Y	+	3	2	CHD3	7746703	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	2.125000	0.42016	0.508000	0.28173	-0.448000	0.05591	TAC		0.502	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		A	7805978	C	A	7805978	4	1	104	1	0	0	0	0	0	1	0	0	3328	489	17	4	3666	4	CHD3	17	7805978	Nonsense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10		7805978	73389232	71	6626											
ABHD15	116236	broad.mit.edu	37	17	27893483	27893483	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:27893483C>G	ENST00000307201.4	-	1	672	c.502G>C	c.(502-504)Ggt>Cgt	p.G168R	TP53I13_ENST00000301057.7_5'Flank|TP53I13_ENST00000584522.1_3'UTR|RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	168						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.G168R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GTGAGGCGACCCCACGCATTG	0.682																																																1	Substitution - Missense(1)	kidney(1)											20	21	21					17																	27893483		2198	4296	6494	SO:0001583	missense	116236			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.502G>C	17.37:g.27893483C>G	ENSP00000302657:p.Gly168Arg		Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117848	0.94385	.	.	ENSG00000168792	ENST00000307201	T	0.71934	-0.61	4.62	4.62	0.57501	.	0.061161	0.64402	D	0.000004	D	0.83220	0.5207	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.85580	0.1239	10	0.72032	D	0.01	-18.367	16.2047	0.82120	0.0:1.0:0.0:0.0	.	168	Q6UXT9	ABH15_HUMAN	R	168	ENSP00000302657:G168R	ENSP00000302657:G168R	G	-	1	0	ABHD15	24917609	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.612000	0.74187	2.391000	0.81399	0.655000	0.94253	GGT		0.682	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		G	27893483	C	G	27893483	3	3	104	1	0	0	0	0	1	0	0	0	81	623	22	4	912	4	ABHD15	17	27893483	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	20087505	27893483	53301727	72	6627											
CCDC40	55036	broad.mit.edu	37	17	78039368	78039368	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:78039368C>G	ENST00000397545.4	+	10	1552	c.1525C>G	c.(1525-1527)Cgc>Ggc	p.R509G	CCDC40_ENST00000269318.5_Missense_Mutation_p.R509G|CCDC40_ENST00000374877.3_Missense_Mutation_p.R509G|CCDC40_ENST00000374876.4_Intron	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	509					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.R509G(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CATGAAGCACCGCGACGAGGC	0.692																																																2	Substitution - Missense(2)	kidney(2)											45	53	50					17																	78039368		2128	4238	6366	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1525C>G	17.37:g.78039368C>G	ENSP00000380679:p.Arg509Gly		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347768	0.41599	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000397545	T;D;T	0.84873	0.02;-1.91;0.18	5.14	5.14	0.70334	.	.	.	.	.	D	0.92625	0.7657	M	0.84846	2.72	0.44539	D	0.997492	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.93535	0.6873	9	0.72032	D	0.01	-17.7899	14.2557	0.66051	0.1497:0.8503:0.0:0.0	.	509;292	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	G	509	ENSP00000364011:R509G;ENSP00000269318:R509G;ENSP00000380679:R509G	ENSP00000269318:R509G	R	+	1	0	CCDC40	75653963	0.993000	0.37304	0.038000	0.18304	0.025000	0.11179	3.700000	0.54786	2.390000	0.81377	0.655000	0.94253	CGC		0.692	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		G	78039368	C	G	78039368	3	3	104	1	0	0	0	0	1	0	0	0	2814	652	23	4	1563	4	CCDC40	17	78039368	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10	50145885	78039368	3155842	73	6628											
CCDC40	55036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78058619	78058619	+	Silent	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:78058619C>T	ENST00000397545.4	+	13	2094	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D	CCDC40_ENST00000374877.3_Silent_p.D689D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	689					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.D689D(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCAGGCTGGACGCACACCAGA	0.532																																																2	Substitution - coding silent(2)	kidney(2)											51	55	53					17																	78058619		2109	4226	6335	SO:0001819	synonymous_variant	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2067C>T	17.37:g.78058619C>T			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	CCDS42395.1																																																																																				0.532	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		T	78058619	C	T	78058619	2	4	104	1	0	0	0	0	0	0	0	1	2814	535	19	1		1	CCDC40	17	78058619	Silent	SNP	C	TCGA-AK-3451-01A-02D-1251-10	19251	78058619	3136591	74	6629											
RNF213	57674	broad.mit.edu;hgsc.bcm.edu	37	17	78337077	78337077	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:78337077A>C	ENST00000582970.1	+	40	11674	c.11531A>C	c.(11530-11532)gAa>gCa	p.E3844A	RNF213_ENST00000336301.6_Missense_Mutation_p.E1917A|RNF213_ENST00000508628.2_Missense_Mutation_p.E3893A|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3844					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E3893A(1)|p.E1917A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCCTGATGGAAGCCCGTTGG	0.562																																																2	Substitution - Missense(2)	kidney(2)											98	88	91					17																	78337077		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11531A>C	17.37:g.78337077A>C	ENSP00000464087:p.Glu3844Ala		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	7.555	0.663588	0.14710	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22743	1.94	5.59	-3.39	0.04868	.	1.765620	0.02221	N	0.064014	T	0.18299	0.0439	L	0.47716	1.5	0.09310	N	1	B;B	0.16802	0.019;0.001	B;B	0.14578	0.011;0.002	T	0.20505	-1.0273	10	0.21014	T	0.42	.	7.7828	0.29074	0.4783:0.1185:0.4032:0.0	.	3893;1917	C9JCP4;Q63HN8	.;RN213_HUMAN	A	3844;3893;1917	ENSP00000338218:E1917A	ENSP00000338218:E1917A	E	+	2	0	RNF213	75951672	0.171000	0.23029	0.000000	0.03702	0.005000	0.04900	0.441000	0.21611	-0.763000	0.04658	0.533000	0.62120	GAA		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		C	78337077	A	C	78337077	3	2	104	1	0	0	0	0	1	0	0	0	13483	246	9	5	12004	5	RNF213	17	78337077	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10	278458	78337077	2858133	75	6630	61	2									
RNF213	57674	broad.mit.edu	37	17	78337081	78337081	+	Silent	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:78337081C>G	ENST00000582970.1	+	40	11678	c.11535C>G	c.(11533-11535)gcC>gcG	p.A3845A	RNF213_ENST00000336301.6_Silent_p.A1918A|RNF213_ENST00000508628.2_Silent_p.A3894A|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3845					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1918A(1)|p.A3894A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGATGGAAGCCCGTTGGAACC	0.572																																																2	Substitution - coding silent(2)	kidney(2)											97	86	90					17																	78337081		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11535C>G	17.37:g.78337081C>G			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78337081	C	G	78337081	2	3	104	1	0	0	0	0	0	0	0	1	13483	610	22	4		4	RNF213	17	78337081	Silent	SNP	C	TCGA-AK-3451-01A-02D-1251-10	4	78337081	2858129	76	6631	61	2									
PTPRM	5797	broad.mit.edu;ucsc.edu	37	18	8113697	8113697	+	Silent	SNP	T	T	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr18:8113697T>A	ENST00000332175.8	+	12	3107	c.2070T>A	c.(2068-2070)acT>acA	p.T690T	PTPRM_ENST00000580170.1_Silent_p.T690T|PTPRM_ENST00000400060.4_Silent_p.T690T|PTPRM_ENST00000400053.4_Silent_p.T628T|PTPRM_ENST00000444013.1_Silent_p.T477T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	690					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T690T(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTGGAACACTCCCCTTCTCC	0.423																																																1	Substitution - coding silent(1)	kidney(1)											110	114	113					18																	8113697		2203	4300	6503	SO:0001819	synonymous_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2070T>A	18.37:g.8113697T>A			A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	CCDS11840.1																																																																																				0.423	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			A	8113697	T	A	8113697	2	1	104	1	0	0	0	0	0	0	0	1	12812	1538	54	5		5	PTPRM	18	8113697	Silent	SNP	T	TCGA-AK-3451-01A-02D-1251-10		8113697	69963551	77	6632											
CDH19	28513	hgsc.bcm.edu;ucsc.edu	37	18	64211271	64211273	+	In_Frame_Del	DEL	GGG	GGG	-	rs575539013		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	GGG	GGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr18:64211271_64211273delGGG	ENST00000540086.1	-	7	1395_1397	c.1149_1151delCCC	c.(1147-1152)acccca>aca	p.P384del	CDH19_ENST00000262150.2_In_Frame_Del_p.P384del	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	486	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGATCCCTGTGGGGTTTCTTCAA	0.419																																																0																																										SO:0001651	inframe_deletion	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1149_1151delCCC	18.37:g.64211271_64211273delGGG	ENSP00000439593:p.Pro384del		O15098	In_Frame_Del	DEL	ENST00000540086.1	37	CCDS59325.1																																																																																				0.419	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		-	64211273	GGG	-	64211271	7	5	104	1	0	1	0	1	0	0	0	0	3106	1348	47	0	1191	0	CDH19	18	64211271	In_Frame_Del	DEL	GGG	TCGA-AK-3451-01A-02D-1251-10	56097574	64211271	13865977	78	6633											
RINL	126432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39362295	39362295	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr19:39362295T>G	ENST00000591812.1	-	6	529	c.443A>C	c.(442-444)gAa>gCa	p.E148A	CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.E34A|RINL_ENST00000598904.1_Missense_Mutation_p.E34A|RINL_ENST00000602238.1_5'Flank			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	148					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E34A(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						ACCTGTGTGTTCATCTCTGGG	0.567																																																1	Substitution - Missense(1)	kidney(1)											81	86	85					19																	39362295		2203	4300	6503	SO:0001583	missense	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.443A>C	19.37:g.39362295T>G	ENSP00000467107:p.Glu148Ala		B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.148130	0.37923	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.50001	0.76	5.05	1.43	0.22495	.	0.869750	0.09758	N	0.759584	T	0.28532	0.0706	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26326	-1.0106	10	0.62326	D	0.03	0.0615	10.3425	0.43887	0.0:0.0:0.5572:0.4428	.	148;34	B4DPG5;Q6ZS11	.;RINL_HUMAN	A	34	ENSP00000340369:E34A	ENSP00000340369:E34A	E	-	2	0	RINL	44054135	0.000000	0.05858	0.000000	0.03702	0.389000	0.30415	0.345000	0.19979	0.355000	0.24131	0.260000	0.18958	GAA		0.567	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		G	39362295	T	G	39362295	3	3	104	1	0	0	0	0	1	0	0	0	13381	1783	62	5	1285	5	RINL	19	39362295	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10		39362295	19766688	79	6634											
ZNF224	7767	broad.mit.edu;hgsc.bcm.edu	37	19	44610924	44610924	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr19:44610924A>G	ENST00000336976.6	+	6	865	c.611A>G	c.(610-612)tAt>tGt	p.Y204C	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	204					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y204C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAGAAATGCTATAAGTGTGAC	0.433																																																1	Substitution - Missense(1)	kidney(1)											140	138	138					19																	44610924		2203	4300	6503	SO:0001583	missense	7767			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.611A>G	19.37:g.44610924A>G	ENSP00000337368:p.Tyr204Cys		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	a	9.280	1.047843	0.19827	.	.	ENSG00000186019	ENST00000336976	T	0.25414	1.8	3.44	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27205	0.0667	M	0.78344	2.41	0.09310	N	1	B	0.18013	0.025	B	0.19946	0.027	T	0.40646	-0.9552	9	0.87932	D	0	.	2.6092	0.04886	0.5011:0.0:0.1464:0.3524	.	204	Q9NZL3	ZN224_HUMAN	C	204	ENSP00000337368:Y204C	ENSP00000337368:Y204C	Y	+	2	0	ZNF224	49302764	0.000000	0.05858	0.001000	0.08648	0.221000	0.24807	-0.453000	0.06778	0.478000	0.27488	0.482000	0.46254	TAT		0.433	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		G	44610924	A	G	44610924	3	3	104	1	0	0	0	0	1	0	0	0	17783	449	16	3	625	3	ZNF224	19	44610924	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10	5248629	44610924	14518059	80	6635											
ZNF235	9310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44792129	44792129	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr19:44792129A>T	ENST00000291182.4	-	5	1561	c.1459T>A	c.(1459-1461)Tat>Aat	p.Y487N	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y487N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TCACATTTATATGGTTTTTCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											126	122	123					19																	44792129		2203	4300	6503	SO:0001583	missense	9310			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1459T>A	19.37:g.44792129A>T	ENSP00000291182:p.Tyr487Asn		B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.903938	0.52333	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.25749	1.78	5.04	5.04	0.67666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38492	N	0.001662	T	0.56031	0.1958	M	0.87547	2.89	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56257	-0.8009	10	0.87932	D	0	.	14.0388	0.64663	1.0:0.0:0.0:0.0	.	483;487	Q14590-2;Q14590	.;ZN235_HUMAN	N	487;487;379	ENSP00000291182:Y487N	ENSP00000291182:Y487N	Y	-	1	0	ZNF235	49483969	0.010000	0.17322	0.051000	0.19133	0.968000	0.65278	2.607000	0.46300	2.023000	0.59567	0.379000	0.24179	TAT		0.413	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			T	44792129	A	T	44792129	3	4	104	1	0	0	0	0	1	0	0	0	17793	449	16	5	761	5	ZNF235	19	44792129	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10	181205	44792129	14336854	81	6636											
ERCC1	2067	hgsc.bcm.edu	37	19	45916986	45916986	+	Silent	SNP	G	G	T	rs3212976	byFrequency	TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr19:45916986G>T	ENST00000300853.3	-	9	1383	c.792C>A	c.(790-792)atC>atA	p.I264I	ERCC1_ENST00000013807.5_Silent_p.I264I|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000589165.1_Silent_p.I264I|ERCC1_ENST00000340192.7_Silent_p.I240I|ERCC1_ENST00000588738.1_5'UTR|ERCC1_ENST00000423698.2_Silent_p.I192I	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	264	HhH2, dimerization with ERCC4.				cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TTGATGCGGCGATGAGCTGTT	0.577								Nucleotide excision repair (NER)																																								0													71	73	72					19																	45916986		2203	4300	6503	SO:0001819	synonymous_variant	2067				CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.792C>A	19.37:g.45916986G>T			B2RC01|B3KRR0|Q7Z7F5|Q96S40	Silent	SNP	ENST00000300853.3	37	CCDS12662.1																																																																																				0.577	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		T	45916986	G	T	45916986	2	4	104	1	0	0	0	0	0	0	0	1	5214	1048	37	4		4	ERCC1	19	45916986	Silent	SNP	G	TCGA-AK-3451-01A-02D-1251-10	1124857	45916986	13211997	82	6637											
RALGAPA2	57186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	20493446	20493446	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr20:20493446A>C	ENST00000202677.7	-	32	4574	c.4567T>G	c.(4567-4569)Tta>Gta	p.L1523V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1523					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L1523V(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTTTCAAGTAATTTGTCAAGA	0.423																																																2	Substitution - Missense(2)	kidney(2)											153	145	147					20																	20493446		1941	4145	6086	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4567T>G	20.37:g.20493446A>C	ENSP00000202677:p.Leu1523Val		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.86|18.86	3.713425|3.713425	0.68730|0.68730	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	D|.	0.95656|.	-3.77|.	6.11|6.11	-1.35|-1.35	0.09114|0.09114	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.75627|0.75627	0.3875|0.3875	M|M	0.87547|0.87547	2.89|2.89	0.36802|0.36802	D|D	0.885415|0.885415	D;D;D|.	0.76494|.	0.973;0.999;0.989|.	P;D;D|.	0.87578|.	0.904;0.998;0.952|.	T|T	0.80200|0.80200	-0.1481|-0.1481	9|5	.|.	.|.	.|.	.|.	13.5662|13.5662	0.61819|0.61819	0.5049:0.0:0.4951:0.0|0.5049:0.0:0.4951:0.0	.|.	1361;1523;1523|.	A8MSM5;Q2PPJ7-2;Q2PPJ7|.	.;.;RGPA2_HUMAN|.	V|K	1523|1339	ENSP00000202677:L1523V|.	.|.	L|N	-|-	1|3	2|2	RALGAPA2|RALGAPA2	20441446|20441446	1.000000|1.000000	0.71417|0.71417	0.630000|0.630000	0.29268|0.29268	0.981000|0.981000	0.71138|0.71138	1.584000|1.584000	0.36589|0.36589	-0.275000|-0.275000	0.09219|0.09219	0.533000|0.533000	0.62120|0.62120	TTA|AAT		0.423	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		C	20493446	A	C	20493446	3	2	104	1	0	0	0	0	1	0	0	0	13020	98	4	5	1086	5	RALGAPA2	20	20493446	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10		20493446	42532074	83	6638											
ADAMTS1	9510	hgsc.bcm.edu;ucsc.edu	37	21	28213405	28213407	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	CAT	CAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr21:28213405_28213407delCAT	ENST00000284984.3	-	4	1742_1744	c.1288_1290delATG	c.(1288-1290)atgdel	p.M430del		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	430	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCATTGACGCCATCATGTGGGAA	0.488																																																0																																										SO:0001651	inframe_deletion	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1288_1290delATG	21.37:g.28213408_28213410delCAT	ENSP00000284984:p.Met430del		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	In_Frame_Del	DEL	ENST00000284984.3	37	CCDS33524.1																																																																																				0.488	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			-	28213407	CAT	-	28213405	7	5	104	1	0	1	0	1	0	0	0	0	255	594	21	0	1637	0	ADAMTS1	21	28213405	In_Frame_Del	DEL	CAT	TCGA-AK-3451-01A-02D-1251-10		28213405	19916490	84	6639											
EWSR1	2130	broad.mit.edu;ucsc.edu	37	22	29668371	29668371	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr22:29668371A>G	ENST00000397938.2	+	3	372	c.53A>G	c.(52-54)tAc>tGc	p.Y18C	EWSR1_ENST00000331029.7_Missense_Mutation_p.Y18C|EWSR1_ENST00000332050.6_Missense_Mutation_p.Y18C|EWSR1_ENST00000414183.2_Missense_Mutation_p.Y18C|EWSR1_ENST00000332035.6_Missense_Mutation_p.Y18C|EWSR1_ENST00000333395.6_Missense_Mutation_p.Y18C|EWSR1_ENST00000406548.1_Missense_Mutation_p.Y18C	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	18	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Y18C(2)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTTTGCAGCTACAGTGCTTAC	0.363			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	2	Substitution - Missense(2)	kidney(2)											144	136	138					22																	29668371		2203	4300	6503	SO:0001583	missense	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.53A>G	22.37:g.29668371A>G	ENSP00000381031:p.Tyr18Cys		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374653	0.61735	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000436425;ENST00000447973;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395;ENST00000455726;ENST00000332035	D;D;D;D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.55	5.55	0.83447	.	0.000000	0.64402	U	0.000002	D	0.91030	0.7178	M	0.78344	2.41	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.99;0.99;0.998;0.99;0.996	D	0.92156	0.5732	10	0.87932	D	0	.	15.9917	0.80211	1.0:0.0:0.0:0.0	.	18;18;18;18;18	Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;EWS_HUMAN;.	C	18	ENSP00000330896:Y18C;ENSP00000381031:Y18C;ENSP00000406824:Y18C;ENSP00000405947:Y18C;ENSP00000385726:Y18C;ENSP00000412670:Y18C;ENSP00000330516:Y18C;ENSP00000400142:Y18C;ENSP00000327456:Y18C;ENSP00000393637:Y18C;ENSP00000331699:Y18C	ENSP00000330516:Y18C	Y	+	2	0	EWSR1	27998371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.306000	0.78905	2.222000	0.72286	0.533000	0.62120	TAC		0.363	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		G	29668371	A	G	29668371	3	3	104	1	0	0	0	0	1	0	0	0	5298	391	14	3	63	3	EWSR1	22	29668371	Missense_Mutation	SNP	A	TCGA-AK-3451-01A-02D-1251-10		29668371	21636195	85	6640											
NEFH	4744	hgsc.bcm.edu	37	22	29885580	29885581	+	In_Frame_Ins	INS	-	-	AGGCCAAGTCCCCTGAGA	rs200984527|rs267607533		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr22:29885580_29885581insAGGCCAAGTCCCCTGAGA	ENST00000310624.6	+	4	1984_1985	c.1951_1952insAGGCCAAGTCCCCTGAGA	c.(1951-1953)aag>aAGGCCAAGTCCCCTGAGAag	p.651_651K>KAKSPEK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	657	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCCCCTGAGAAGGCCAAGTCC	0.569																																																0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	Exception_encountered	22.37:g.29885580_29885581insAGGCCAAGTCCCCTGAGA	ENSP00000311997:p.AlaLysSerProGluLys657dup		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		AGGCCAAGTCCCCTGAGA	29885581	-	AGGCCAAGTCCCCTGAGA	29885580	7	5	104	1	0	1	1	0	0	0	0	0	10316	247	9	0	1965	0	NEFH	22	29885580	In_Frame_Ins	INS	-	TCGA-AK-3451-01A-02D-1251-10	217209	29885580	21418986	86	6641											
SYTL5	94122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	37984722	37984722	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chrX:37984722C>A	ENST00000357972.5	+	16	2559	c.2013C>A	c.(2011-2013)aaC>aaA	p.N671K	SYTL5_ENST00000297875.2_Missense_Mutation_p.N671K|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.N693K			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	671	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.N671K(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTTCCAGCAACATCTTTCTGG	0.488																																																1	Substitution - Missense(1)	kidney(1)											120	108	112					X																	37984722		2202	4300	6502	SO:0001583	missense	94122				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.2013C>A	X.37:g.37984722C>A	ENSP00000350657:p.Asn671Lys		A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.811868	0.70797	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.09350	2.99;2.99;2.99	5.66	2.93	0.34026	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	M	0.83223	2.63	0.52501	D	0.999959	D;D	0.89917	1.0;0.991	D;P	0.97110	1.0;0.874	T	0.02646	-1.1129	10	0.87932	D	0	-12.2668	5.8983	0.18951	0.0:0.5212:0.0:0.4788	.	693;671	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	K	671;671;693	ENSP00000297875:N671K;ENSP00000350657:N671K;ENSP00000395220:N693K	ENSP00000297875:N671K	N	+	3	2	SYTL5	37869666	0.896000	0.30565	1.000000	0.80357	0.986000	0.74619	0.025000	0.13577	1.162000	0.42619	0.513000	0.50165	AAC		0.488	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		A	37984722	C	A	37984722	3	1	104	1	0	0	0	0	1	0	0	0	15491	477	17	4	2141	4	SYTL5	23	37984722	Missense_Mutation	SNP	C	TCGA-AK-3451-01A-02D-1251-10		37984722	117285838	87	6642											
MED14	9282	broad.mit.edu;hgsc.bcm.edu	37	X	40568603	40568603	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chrX:40568603T>G	ENST00000324817.1	-	10	1400	c.1282A>C	c.(1282-1284)Aac>Cac	p.N428H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	428	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.N428H(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACCTACAGTTTTCATTGGCA	0.323																																																1	Substitution - Missense(1)	kidney(1)											54	45	48					X																	40568603		2203	4300	6503	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1282A>C	X.37:g.40568603T>G	ENSP00000323720:p.Asn428His		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386656	0.82902	.	.	ENSG00000180182	ENST00000324817	T	0.44083	0.93	5.31	5.31	0.75309	.	0.041578	0.85682	D	0.000000	T	0.46386	0.1390	L	0.36672	1.1	0.80722	D	1	D	0.61697	0.99	P	0.53593	0.73	T	0.41805	-0.9488	10	0.46703	T	0.11	.	14.3845	0.66934	0.0:0.0:0.0:1.0	.	428	O60244	MED14_HUMAN	H	428	ENSP00000323720:N428H	ENSP00000323720:N428H	N	-	1	0	MED14	40453547	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.698000	0.84413	1.776000	0.52262	0.425000	0.28330	AAC		0.323	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		G	40568603	T	G	40568603	3	3	104	1	0	0	0	0	1	0	0	0	9434	1841	64	5	3170	5	MED14	23	40568603	Missense_Mutation	SNP	T	TCGA-AK-3451-01A-02D-1251-10	2583881	40568603	114701957	88	6643											
VHL	7428	hgsc.bcm.edu	37	3	10183646	10183646	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02W-1244-10	TCGA-AK-3451-10A-01W-1244-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	5a465db8-051b-4d67-960b-5adc49b55fd9	a3aaf8f7-1dee-45f5-81da-6fceecc116c8	g.chr3:10183646G>A	ENST00000256474.2	+	1	955	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.G39S	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	39	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G39S(2)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGAGGAGTCCGGCCCGGAAGA	0.736		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	2	Substitution - Missense(2)	kidney(2)											6	9	8					3																	10183646		1998	3901	5899	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.115G>A	3.37:g.10183646G>A	ENSP00000256474:p.Gly39Ser		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827744	0.50845	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.85773	-2.03;-2.03	3.71	-0.384	0.12474	.	0.363857	0.24742	N	0.035963	T	0.66470	0.2792	N	0.19112	0.55	0.09310	N	1	B;B	0.20780	0.048;0.013	B;B	0.11329	0.006;0.002	T	0.51244	-0.8730	10	0.35671	T	0.21	-1.8965	1.3303	0.02133	0.2144:0.3545:0.274:0.1571	.	39;39	P40337-2;P40337	.;VHL_HUMAN	S	39	ENSP00000256474:G39S;ENSP00000344757:G39S	ENSP00000256474:G39S	G	+	1	0	VHL	10158646	0.001000	0.12720	0.000000	0.03702	0.046000	0.14306	0.486000	0.22340	-0.085000	0.12573	0.555000	0.69702	GGC		0.736	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183646	G	A	10183646	3	1	105	1	0	0	0	0	1	0	0	0	17167	1116	39	1	117	1	VHL	3	10183646	Missense_Mutation	SNP	G	TCGA-AK-3451-01A-02W-1244-10		10183646	187838784	1	6644			1	14		2	2	90	N	G	5.749937e-06
VHL	7428	hgsc.bcm.edu	37	3	10183735	10183735	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3451-01A-02W-1244-10	TCGA-AK-3451-10A-01W-1244-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	5a465db8-051b-4d67-960b-5adc49b55fd9	a3aaf8f7-1dee-45f5-81da-6fceecc116c8	g.chr3:10183735delG	ENST00000256474.2	+	1	1044	c.204delG	c.(202-204)tcgfs	p.S68fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Del_p.S68fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N67fs*59(1)|p.R69fs*90(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68*(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.S68S(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGGTGAACTCGCGCGAGCCCT	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Deletion - Frameshift(4)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Nonsense(1)|Complex - frameshift(1)|Complex - deletion inframe(1)|Substitution - coding silent(1)	kidney(10)	GRCh37	CI042660	VHL	I							8	11	10					3																	10183735		2148	4210	6358	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.204delG	3.37:g.10183735delG	ENSP00000256474:p.Ser68fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183735	G	-	10183735	7	5	105	1	0	1	0	1	0	0	0	0	17167	1074	38	0	206	0	VHL	3	10183735	Frame_Shift_Del	DEL	G	TCGA-AK-3451-01A-02W-1244-10	89	10183735	187838695	2	6645			1	14		2	2	90	N	G	5.749937e-06
ZCCHC17	51538	broad.mit.edu	37	1	31836952	31836952	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:31836952G>A	ENST00000373714.1	+	8	899	c.638G>A	c.(637-639)gGc>gAc	p.G213D	ZCCHC17_ENST00000546109.1_Missense_Mutation_p.G205D|FABP3_ENST00000497275.1_5'Flank|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.G213D|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.G215D	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	213	Lys-rich.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AGTGATACAGGCAAGAGGGCA	0.393																																																0													89	92	91					1																	31836952		2203	4300	6503	SO:0001583	missense	51538			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.638G>A	1.37:g.31836952G>A	ENSP00000362819:p.Gly213Asp		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	CCDS341.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636268	0.47049	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	.	.	.	5.52	5.52	0.82312	.	0.094381	0.46758	D	0.000277	T	0.64560	0.2609	L	0.36672	1.1	0.33264	D	0.560141	P;D;D	0.89917	0.933;1.0;0.999	B;D;D	0.87578	0.323;0.998;0.959	T	0.72020	-0.4416	9	0.87932	D	0	.	16.2868	0.82725	0.0:0.0:1.0:0.0	.	215;205;213	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	D	213;213;205;215	.	ENSP00000343557:G213D	G	+	2	0	ZCCHC17	31609539	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.224000	0.58593	2.872000	0.98467	0.650000	0.86243	GGC		0.393	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		A	31836952	G	A	31836952	3	1	106	1	0	0	0	0	1	0	0	0	17590	1203	42	2	664	2	ZCCHC17	1	31836952	Missense_Mutation	SNP	G	TCGA-AK-3453-01A-01D-0966-08		31836952	217413669	1	6646											
HRNR	388697	broad.mit.edu	37	1	152191466	152191466	+	Missense_Mutation	SNP	C	C	T	rs376040395	byFrequency	TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:152191466C>T	ENST00000368801.2	-	3	2714	c.2639G>A	c.(2638-2640)cGc>cAc	p.R880H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	880					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R880H(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCGGCCGCGGCCCGAAGC	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		20954	0.0		0.001	False		,,,				2504	0.001															1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG	0,4406		0,0,2203	87	95	93		2639	-4.1	0	1		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	HRNR	NM_001009931.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	880/2851	152191466	1,13005	2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2639G>A	1.37:g.152191466C>T	ENSP00000357791:p.Arg880His		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078540	0.07184	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.01871	4.59	2.07	-4.14	0.03892	.	.	.	.	.	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	P	0.46578	0.88	B	0.19946	0.027	T	0.49214	-0.8963	9	0.15499	T	0.54	.	4.0907	0.09968	0.0:0.2699:0.3225:0.4077	.	880	Q86YZ3	HORN_HUMAN	H	880	ENSP00000357791:R880H	ENSP00000357791:R880H	R	-	2	0	HRNR	150458090	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.906000	0.00171	-2.279000	0.00676	-0.362000	0.07510	CGC		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152191466	C	T	152191466	3	4	106	1	0	0	0	0	1	0	0	0	7361	768	27	1	5917	1	HRNR	1	152191466	Missense_Mutation	SNP	C	TCGA-AK-3453-01A-01D-0966-08	120354514	152191466	97059155	2	6647											
WDR26	80232	broad.mit.edu	37	1	224592221	224592221	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:224592221C>T	ENST00000414423.2	-	8	1403	c.1210G>A	c.(1210-1212)Gtt>Att	p.V404I	WDR26_ENST00000295024.6_Missense_Mutation_p.V257I|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	404						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ATATAAGAAACGCCATAAGCA	0.413																																																0													126	116	119					1																	224592221		2203	4300	6503	SO:0001583	missense	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1210G>A	1.37:g.224592221C>T	ENSP00000408108:p.Val404Ile		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.114070|5.114070	0.94339|0.94339	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000480676|ENST00000414423;ENST00000295024	.|T;T	.|0.67171	.|-0.25;-0.25	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	.|0.059794	.|0.64402	.|D	.|0.000003	T|T	0.57725|0.57725	0.2073|0.2073	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	.|P	.|0.40083	.|0.702	.|B	.|0.28232	.|0.087	T|T	0.64253|0.64253	-0.6451|-0.6451	5|10	.|0.44086	.|T	.|0.13	.|.	17.7113|17.7113	0.88322|0.88322	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|388	.|Q9H7D7-2	.|.	H|I	37|404;257	.|ENSP00000408108:V404I;ENSP00000295024:V257I	.|ENSP00000295024:V257I	R|V	-|-	2|1	0|0	WDR26|WDR26	222658844|222658844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.651000|7.651000	0.83577|0.83577	2.430000|2.430000	0.82344|0.82344	0.484000|0.484000	0.47621|0.47621	CGT|GTT		0.413	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		T	224592221	C	T	224592221	3	4	106	1	0	0	0	0	1	0	0	0	17288	536	19	1	803	1	WDR26	1	224592221	Missense_Mutation	SNP	C	TCGA-AK-3453-01A-01D-0966-08	72400755	224592221	24658400	3	6648											
IRF2BP2	359948	broad.mit.edu	37	1	234743195	234743197	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr1:234743195_234743197delTCC	ENST00000366609.3	-	2	1480_1482	c.1450_1452delGGA	c.(1450-1452)ggadel	p.G484del	IRF2BP2_ENST00000366610.3_In_Frame_Del_p.G468del|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CTGGCTCCAGTCCTCCTGTGTTG	0.645																																																0																																										SO:0001651	inframe_deletion	359948			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1450_1452delGGA	1.37:g.234743198_234743200delTCC	ENSP00000355568:p.Gly484del		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	In_Frame_Del	DEL	ENST00000366609.3	37	CCDS1602.1																																																																																				0.645	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		-	234743197	TCC	-	234743195	7	5	106	1	0	1	0	1	0	0	0	0	7832	1654	58	0	315	0	IRF2BP2	1	234743195	In_Frame_Del	DEL	TCC	TCGA-AK-3453-01A-01D-0966-08	10150974	234743195	14507426	4	6649											
ARHGAP25	9938	broad.mit.edu	37	2	69034497	69034497	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:69034497T>C	ENST00000295381.3	+	5	975	c.556T>C	c.(556-558)Ttc>Ctc	p.F186L	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.F147L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.F179L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.F187L|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.F161L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.F180L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.F180L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	186	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATGTGCAGAGTTCATCCTGGA	0.577																																																0													120	106	111					2																	69034497		2203	4300	6503	SO:0001583	missense	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.556T>C	2.37:g.69034497T>C	ENSP00000295381:p.Phe186Leu		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	T	22.9	4.353897	0.82243	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.42900	0.96;0.96;2.76;2.76;0.96;2.76;2.76	4.88	4.88	0.63580	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.098115	0.64402	D	0.000001	T	0.64864	0.2637	M	0.86651	2.83	0.80722	D	1	D;P;D;D;D;P;D	0.62365	0.977;0.606;0.971;0.971;0.971;0.952;0.991	P;P;P;P;P;B;D	0.65233	0.759;0.582;0.475;0.475;0.475;0.291;0.933	T	0.66575	-0.5889	10	0.25751	T	0.34	.	13.8255	0.63348	0.0:0.0:0.0:1.0	.	147;161;187;180;179;180;186	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	L	161;186;187;147;179;180;180;180;171	ENSP00000439917:F161L;ENSP00000295381:F186L;ENSP00000386911:F187L;ENSP00000420583:F147L;ENSP00000386863:F179L;ENSP00000386241:F180L;ENSP00000417139:F180L	ENSP00000295381:F186L	F	+	1	0	ARHGAP25	68888001	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.637000	0.83313	2.058000	0.61347	0.454000	0.30748	TTC		0.577	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		C	69034497	T	C	69034497	3	2	106	1	0	0	0	0	1	0	0	0	874	1725	60	3	617	3	ARHGAP25	2	69034497	Missense_Mutation	SNP	T	TCGA-AK-3453-01A-01D-0966-08		69034497	174164876	5	6650											
AFF3	3899	broad.mit.edu	37	2	100199272	100199272	+	Silent	SNP	G	G	A	rs148546971	byFrequency	TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:100199272G>A	ENST00000409236.2	-	15	2893	c.2781C>T	c.(2779-2781)ggC>ggT	p.G927G	AFF3_ENST00000356421.2_Silent_p.G952G|AFF3_ENST00000317233.4_Silent_p.G927G|AFF3_ENST00000409579.1_Silent_p.G952G			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	927					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGAGGTCTCCGCCGTGAGGCT	0.488													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17474	0.0		0.0	False		,,,				2504	0.0															0								G	,	3,4403	6.2+/-15.9	0,3,2200	121	110	114		2856,2781	-5.8	0	2	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	952/1252,927/1227	100199272	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2781C>T	2.37:g.100199272G>A			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	CCDS42723.1																																																																																				0.488	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		A	100199272	G	A	100199272	2	1	106	1	0	0	0	0	0	0	0	1	358	1074	38	1		1	AFF3	2	100199272	Silent	SNP	G	TCGA-AK-3453-01A-01D-0966-08	31164775	100199272	143000101	6	6651											
PAX3	5077	broad.mit.edu	37	2	223066658	223066658	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr2:223066658C>T	ENST00000350526.4	-	8	1561	c.1425G>A	c.(1423-1425)aaG>aaA	p.K475K	PAX3_ENST00000392069.2_Intron|PAX3_ENST00000392070.2_Intron|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000464706.1_5'Flank|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000409551.3_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	475					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGTCCAAGGCTTACTTTGTC	0.478			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													87	84	85					2																	223066658		2203	4300	6503	SO:0001819	synonymous_variant	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1425G>A	2.37:g.223066658C>T			G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	CCDS42826.1																																																																																				0.478	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			T	223066658	C	T	223066658	2	4	106	1	0	0	0	0	0	0	0	1	11482	796	28	2		2	PAX3	2	223066658	Silent	SNP	C	TCGA-AK-3453-01A-01D-0966-08	122867386	223066658	20132715	7	6652											
COL8A1	1295	broad.mit.edu	37	3	99514149	99514149	+	Silent	SNP	T	T	G	rs144636435		TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:99514149T>G	ENST00000261037.3	+	5	1784	c.1404T>G	c.(1402-1404)ggT>ggG	p.G468G	COL8A1_ENST00000273342.4_Silent_p.G468G	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	468	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCAAAAAGGTGTACCAGGAC	0.607																																																0													25	23	24					3																	99514149		2203	4298	6501	SO:0001819	synonymous_variant	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1404T>G	3.37:g.99514149T>G			D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	37	CCDS2934.1																																																																																				0.607	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		G	99514149	T	G	99514149	2	3	106	1	0	0	0	0	0	0	0	1	3707	1683	59	5		5	COL8A1	3	99514149	Silent	SNP	T	TCGA-AK-3453-01A-01D-0966-08		99514149	98508281	8	6653											
OSBPL11	114885	broad.mit.edu	37	3	125271258	125271258	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr3:125271258C>A	ENST00000296220.5	-	9	1710	c.1421G>T	c.(1420-1422)aGc>aTc	p.S474I		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	474					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GGAAGAACTGCTAAAAACACT	0.453																																																0													99	90	93					3																	125271258		2203	4300	6503	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1421G>T	3.37:g.125271258C>A	ENSP00000296220:p.Ser474Ile		A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864415	0.32977	.	.	ENSG00000144909	ENST00000296220	T	0.20200	2.09	4.54	1.58	0.23477	.	0.722813	0.14298	N	0.328449	T	0.11324	0.0276	N	0.08118	0	0.24654	N	0.993506	B	0.24043	0.096	B	0.30029	0.11	T	0.29822	-0.9999	10	0.46703	T	0.11	-9.759	8.724	0.34458	0.0:0.6547:0.1992:0.1461	.	474	Q9BXB4	OSB11_HUMAN	I	474	ENSP00000296220:S474I	ENSP00000296220:S474I	S	-	2	0	OSBPL11	126753948	0.988000	0.35896	0.681000	0.30009	0.935000	0.57460	1.172000	0.31908	0.665000	0.31066	-0.216000	0.12614	AGC		0.453	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		A	125271258	C	A	125271258	3	1	106	1	0	0	0	0	1	0	0	0	11278	797	28	4	842	4	OSBPL11	3	125271258	Missense_Mutation	SNP	C	TCGA-AK-3453-01A-01D-0966-08	25757109	125271258	72751172	9	6654											
ARRDC3	57561	broad.mit.edu	37	5	90667241	90667243	+	In_Frame_Del	DEL	ATC	ATC	-	rs201163117		TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:90667241_90667243delATC	ENST00000265138.3	-	8	1485_1487	c.1219_1221delGAT	c.(1219-1221)gatdel	p.D407del		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	407					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		AGGATGGTCTATCATCTGCTGAC	0.414																																																0																																										SO:0001651	inframe_deletion	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1219_1221delGAT	5.37:g.90667244_90667246delATC	ENSP00000265138:p.Asp407del		A8K6T8|Q9P2H1	In_Frame_Del	DEL	ENST00000265138.3	37	CCDS34202.1																																																																																				0.414	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		-	90667243	ATC	-	90667241	7	5	106	1	0	1	0	1	0	0	0	0	984	446	16	0	27	0	ARRDC3	5	90667241	In_Frame_Del	DEL	ATC	TCGA-AK-3453-01A-01D-0966-08		90667241	90248019	10	6655											
PCDHA7	56141	broad.mit.edu	37	5	140215597	140215597	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:140215597G>A	ENST00000525929.1	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.P543P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692																																					NSCLC(160;258 2013 5070 22440 28951)											0													75	84	81					5																	140215597		2202	4296	6498	SO:0001819	synonymous_variant	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1629G>A	5.37:g.140215597G>A			O75282	Silent	SNP	ENST00000525929.1	37	CCDS54918.1																																																																																				0.692	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		A	140215597	G	A	140215597	2	1	106	1	0	0	0	0	0	0	0	1	11531	1074	38	1		1	PCDHA7	5	140215597	Silent	SNP	G	TCGA-AK-3453-01A-01D-0966-08	49548356	140215597	40699663	11	6656											
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	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)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	lung(1)											62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T			A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140553994	G	T	140553994	2	4	106	1	0	0	0	0	0	0	0	1	11549	1132	40	4		4	PCDHB7	5	140553994	Silent	SNP	G	TCGA-AK-3453-01A-01D-0966-08	338397	140553994	40361266	12	6657											
SCAND3	114821	broad.mit.edu	37	6	28541173	28541173	+	Silent	SNP	G	G	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:28541173G>A	ENST00000452236.2	-	4	3110	c.2493C>T	c.(2491-2493)gcC>gcT	p.A831A	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttttagacttggcaaccggaa	0.408																																																0													143	135	137					6																	28541173		2203	4300	6503	SO:0001819	synonymous_variant	114821																														ENST00000452236.2:c.2493C>T	6.37:g.28541173G>A				Silent	SNP	ENST00000452236.2	37	CCDS34355.1																																																																																				0.408	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			A	28541173	G	A	28541173	2	1	106	1	0	0	0	0	0	0	0	1	13882	1335	47	2		2	SCAND3	6	28541173	Silent	SNP	G	TCGA-AK-3453-01A-01D-0966-08		28541173	142573894	13	6658											
RXRB	6257	broad.mit.edu	37	6	33166123	33166123	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:33166123C>T	ENST00000374680.3	-	3	813	c.602G>A	c.(601-603)gGc>gAc	p.G201D	SLC39A7_ENST00000374675.3_5'Flank|RXRB_ENST00000374685.4_Missense_Mutation_p.G201D|RXRB_ENST00000413614.2_Missense_Mutation_p.G105D|RXRB_ENST00000544186.1_Missense_Mutation_p.G11D|SLC39A7_ENST00000374677.3_5'Flank|RNY4P10_ENST00000365571.1_RNA	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	201	Modulating. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGCCGTTTGCCAGCCCCAGG	0.622																																																0													123	144	136					6																	33166123		1508	2707	4215	SO:0001583	missense	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.602G>A	6.37:g.33166123C>T	ENSP00000363812:p.Gly201Asp		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864280	0.51482	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	D;D;D;D	0.93189	-3.16;-3.16;-3.18;-3.0	5.11	5.11	0.69529	.	0.376195	0.30649	N	0.009176	D	0.91553	0.7332	N	0.19112	0.55	0.43187	D	0.995017	D;D;D;B;B;P;P;P	0.69078	0.997;0.988;0.995;0.04;0.305;0.737;0.92;0.737	D;P;P;B;B;B;B;B	0.63597	0.916;0.837;0.72;0.045;0.109;0.22;0.345;0.22	D	0.92106	0.5692	10	0.45353	T	0.12	.	16.0896	0.81084	0.0:1.0:0.0:0.0	.	105;201;84;11;201;201;241;201	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	D	201;201;11;105	ENSP00000363817:G201D;ENSP00000363812:G201D;ENSP00000439222:G11D;ENSP00000415561:G105D	ENSP00000363812:G201D	G	-	2	0	RXRB	33274101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.205000	0.42770	2.644000	0.89710	0.549000	0.68633	GGC		0.622	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		T	33166123	C	T	33166123	3	4	106	1	0	0	0	0	1	0	0	0	13770	739	26	2	1031	2	RXRB	6	33166123	Missense_Mutation	SNP	C	TCGA-AK-3453-01A-01D-0966-08	4624950	33166123	137948944	14	6659											
FGD2	221472	broad.mit.edu	37	6	36982762	36982762	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:36982762T>G	ENST00000274963.8	+	8	1148	c.977T>G	c.(976-978)gTc>gGc	p.V326G		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	326	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GAGGGCCCGGTCCTCAAGATC	0.627																																																0													76	64	68					6																	36982762		2203	4300	6503	SO:0001583	missense	221472			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.977T>G	6.37:g.36982762T>G	ENSP00000274963:p.Val326Gly		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019696	0.54576	.	.	ENSG00000146192	ENST00000274963	D	0.89050	-2.46	4.57	4.57	0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.166402	0.28555	N	0.014932	D	0.85379	0.5683	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.60415	0.874	D	0.88801	0.3285	10	0.87932	D	0	-5.5484	13.7691	0.63012	0.0:0.0:0.0:1.0	.	326	Q7Z6J4	FGD2_HUMAN	G	326	ENSP00000274963:V326G	ENSP00000274963:V326G	V	+	2	0	FGD2	37090740	0.998000	0.40836	0.475000	0.27278	0.153000	0.21895	4.857000	0.62939	1.918000	0.55548	0.459000	0.35465	GTC		0.627	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		G	36982762	T	G	36982762	3	3	106	1	0	0	0	0	1	0	0	0	5835	1667	58	5	1007	5	FGD2	6	36982762	Missense_Mutation	SNP	T	TCGA-AK-3453-01A-01D-0966-08	3816639	36982762	134132305	15	6660											
PEX6	5190	broad.mit.edu	37	6	42946220	42946220	+	Silent	SNP	C	C	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:42946220C>A	ENST00000304611.8	-	1	738	c.669G>T	c.(667-669)gtG>gtT	p.V223V	PEX6_ENST00000244546.4_Silent_p.V223V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	223					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGGCCACCCACACCCATTCGC	0.622																																																0													53	52	52					6																	42946220		2203	4300	6503	SO:0001819	synonymous_variant	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.669G>T	6.37:g.42946220C>A			Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																				0.622	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		A	42946220	C	A	42946220	2	1	106	1	0	0	0	0	0	0	0	1	11752	465	17	4		4	PEX6	6	42946220	Silent	SNP	C	TCGA-AK-3453-01A-01D-0966-08	5963458	42946220	128168847	16	6661											
CYB5R4	51167	broad.mit.edu	37	6	84569562	84569562	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr6:84569562delG	ENST00000369681.5	+	1	201	c.61delG	c.(61-63)gggfs	p.G22fs	CYB5R4_ENST00000369679.4_5'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	22					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TGTCGCCTCCGGGGGGCGTAG	0.677											OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(86;1289 1332 25971 40349 52675)											0													22	26	24					6																	84569562		2203	4299	6502	SO:0001589	frameshift_variant	51167			AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.61delG	6.37:g.84569562delG	ENSP00000358695:p.Gly22fs	1230	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Frame_Shift_Del	DEL	ENST00000369681.5	37	CCDS5000.2																																																																																				0.677	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		-	84569562	G	-	84569562	7	5	106	1	0	1	0	1	0	0	0	0	4131	1116	39	0	63	0	CYB5R4	6	84569562	Frame_Shift_Del	DEL	G	TCGA-AK-3453-01A-01D-0966-08	41623342	84569562	86545505	17	6662											
CA13	377677	broad.mit.edu	37	8	86163153	86163153	+	Silent	SNP	A	A	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr8:86163153A>T	ENST00000321764.3	+	2	524	c.222A>T	c.(220-222)acA>acT	p.T74T	CA13_ENST00000517298.1_3'UTR|RP11-219B4.6_ENST00000551479.1_5'Flank	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	74					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	TTGATGACACAGAGAACAAAT	0.383																																																0													153	155	155					8																	86163153		2203	4299	6502	SO:0001819	synonymous_variant	377677			BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"Carbonic anhydrases"	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.222A>T	8.37:g.86163153A>T				Silent	SNP	ENST00000321764.3	37	CCDS6236.1																																																																																				0.383	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		T	86163153	A	T	86163153	2	4	106	1	0	0	0	0	0	0	0	1	2516	175	7	5		5	CA13	8	86163153	Silent	SNP	A	TCGA-AK-3453-01A-01D-0966-08		86163153	60200869	18	6663											
SUV420H1	51111	broad.mit.edu	37	11	67925230	67925230	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:67925230T>C	ENST00000304363.4	-	11	2936	c.2583A>G	c.(2581-2583)atA>atG	p.I861M		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	861					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTTTTCCAACTATTAACCTCA	0.413																																																0													56	57	57					11																	67925230		2200	4294	6494	SO:0001583	missense	51111			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2583A>G	11.37:g.67925230T>C	ENSP00000305899:p.Ile861Met		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206095	0.58234	.	.	ENSG00000110066	ENST00000304363	T	0.60548	0.18	5.71	-10.7	0.00240	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.77560	-0.2542	10	0.87932	D	0	-24.77	12.9774	0.58544	0.2094:0.0:0.5852:0.2054	.	861	Q4FZB7	SV421_HUMAN	M	861	ENSP00000305899:I861M	ENSP00000305899:I861M	I	-	3	3	SUV420H1	67681806	0.377000	0.25106	0.033000	0.17914	0.986000	0.74619	-0.417000	0.07088	-1.411000	0.02032	0.402000	0.26972	ATA		0.413	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		C	67925230	T	C	67925230	3	2	106	1	0	0	0	0	1	0	0	0	15419	1512	53	3	78	3	SUV420H1	11	67925230	Missense_Mutation	SNP	T	TCGA-AK-3453-01A-01D-0966-08		67925230	67081286	19	6664											
MMP3	4314	broad.mit.edu	37	11	102713276	102713276	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr11:102713276C>T	ENST00000299855.5	-	3	641	c.385G>A	c.(385-387)Gct>Act	p.A129T		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	129					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	GAATCAACAGCATCTTTTGGC	0.383																																																0													110	111	111					11																	102713276		2203	4299	6502	SO:0001583	missense	4314			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.385G>A	11.37:g.102713276C>T	ENSP00000299855:p.Ala129Thr		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660226	0.88154	.	.	ENSG00000149968	ENST00000299855	T	0.20881	2.04	6.16	4.28	0.50868	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.218004	0.23107	N	0.051860	T	0.21962	0.0529	L	0.27975	0.815	0.28310	N	0.922716	B	0.25390	0.125	B	0.39935	0.314	T	0.28138	-1.0053	10	0.72032	D	0.01	.	11.7767	0.51989	0.0:0.8585:0.0:0.1415	.	129	P08254	MMP3_HUMAN	T	129	ENSP00000299855:A129T	ENSP00000299855:A129T	A	-	1	0	MMP3	102218486	0.970000	0.33590	0.429000	0.26710	0.848000	0.48234	4.936000	0.63506	1.594000	0.50039	0.650000	0.86243	GCT		0.383	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		T	102713276	C	T	102713276	3	4	106	1	0	0	0	0	1	0	0	0	9668	710	25	2	1080	2	MMP3	11	102713276	Missense_Mutation	SNP	C	TCGA-AK-3453-01A-01D-0966-08	34788046	102713276	32293240	20	6665											
ETV6	2120	broad.mit.edu	37	12	12022525	12022525	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr12:12022525C>T	ENST00000396373.4	+	5	905	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	211					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CATGATCCGCCGCCTCTCCCC	0.622			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	0													111	123	119					12																	12022525		2203	4300	6503	SO:0001583	missense	2120			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.631C>T	12.37:g.12022525C>T	ENSP00000379658:p.Arg211Cys		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312889	0.81358	.	.	ENSG00000139083	ENST00000396373	T	0.04809	3.55	5.65	5.65	0.86999	.	0.049771	0.85682	D	0.000000	T	0.08358	0.0208	L	0.54323	1.7	0.54753	D	0.99998	B	0.20164	0.042	B	0.08055	0.003	T	0.14476	-1.0471	10	0.40728	T	0.16	.	19.3356	0.94316	0.0:1.0:0.0:0.0	.	211	P41212	ETV6_HUMAN	C	211	ENSP00000379658:R211C	ENSP00000379658:R211C	R	+	1	0	ETV6	11913792	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.359000	0.66074	2.655000	0.90218	0.655000	0.94253	CGC		0.622	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		T	12022525	C	T	12022525	3	4	106	1	0	0	0	0	1	0	0	0	5285	652	23	1	649	1	ETV6	12	12022525	Missense_Mutation	SNP	C	TCGA-AK-3453-01A-01D-0966-08		12022525	121829370	21	6666											
TMOD2	29767	broad.mit.edu	37	15	52074920	52074920	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:52074920C>T	ENST00000249700.4	+	7	848	c.627C>T	c.(625-627)aaC>aaT	p.N209N	TMOD2_ENST00000435126.2_Intron|TMOD2_ENST00000539962.2_Silent_p.N165N	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	209					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TGTCTTAGAACATTCCAATTC	0.478																																																0													158	160	159					15																	52074920		2195	4293	6488	SO:0001819	synonymous_variant	29767			AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.627C>T	15.37:g.52074920C>T			B4DEW6	Silent	SNP	ENST00000249700.4	37	CCDS10144.1																																																																																				0.478	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			T	52074920	C	T	52074920	2	4	106	1	0	0	0	0	0	0	0	1	16239	477	17	2		2	TMOD2	15	52074920	Silent	SNP	C	TCGA-AK-3453-01A-01D-0966-08		52074920	50456472	22	6667											
MESDC2	23184	broad.mit.edu	37	15	81282120	81282120	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr15:81282120T>C	ENST00000261758.4	-	1	99	c.13A>G	c.(13-15)Agg>Ggg	p.R5G	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	5	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CGCGCCCACCTGGAAGCCGCC	0.701																																																0													12	11	11					15																	81282120		2182	4252	6434	SO:0001583	missense	23184			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.13A>G	15.37:g.81282120T>C	ENSP00000261758:p.Arg5Gly		B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	ENST00000261758.4	37	CCDS32308.1	.	.	.	.	.	.	.	.	.	.	T	1.368	-0.586964	0.03827	.	.	ENSG00000117899	ENST00000422879;ENST00000261758	.	.	.	4.13	1.83	0.25207	.	1.422520	0.04612	N	0.400480	T	0.20210	0.0486	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20605	-1.0270	9	0.14656	T	0.56	-27.4048	4.1055	0.10035	0.0:0.4102:0.2064:0.3834	.	5	Q14696	MESD_HUMAN	G	5	.	ENSP00000261758:R5G	R	-	1	2	MESDC2	79069175	0.284000	0.24287	0.355000	0.25773	0.007000	0.05969	0.493000	0.22451	0.283000	0.22279	0.383000	0.25322	AGG		0.701	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		C	81282120	T	C	81282120	3	2	106	1	0	0	0	0	1	0	0	0	9483	1579	55	3	703	3	MESDC2	15	81282120	Missense_Mutation	SNP	T	TCGA-AK-3453-01A-01D-0966-08	29207200	81282120	21249272	23	6668											
MKL2	57496	broad.mit.edu	37	16	14345845	14345845	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr16:14345845C>T	ENST00000341243.5	+	12	2497	c.2497C>T	c.(2497-2499)Cca>Tca	p.P833S	MKL2_ENST00000571589.1_Missense_Mutation_p.P844S|MKL2_ENST00000318282.5_Missense_Mutation_p.P794S|MKL2_ENST00000574045.1_Missense_Mutation_p.P794S			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	833					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTCCGCTTCCATCCCTGCA	0.498																																																0													98	89	92					16																	14345845		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2497C>T	16.37:g.14345845C>T	ENSP00000345841:p.Pro833Ser		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37		.	.	.	.	.	.	.	.	.	.	C	10.19	1.281422	0.23392	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.63	-1.93	0.07594	.	0.404445	0.29624	N	0.011633	T	0.22244	0.0536	N	0.19112	0.55	0.09310	N	0.999994	B;B	0.18310	0.001;0.027	B;B	0.16289	0.003;0.015	T	0.11372	-1.0590	9	0.49607	T	0.09	-3.2994	7.3367	0.26613	0.0:0.3786:0.4167:0.2047	.	844;794	B4DGT8;Q9ULH7-4	.;.	S	794;833	.	ENSP00000339086:P794S	P	+	1	0	MKL2	14253346	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	0.382000	0.20635	-0.266000	0.09339	-0.744000	0.03518	CCA		0.498	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		T	14345845	C	T	14345845	3	4	106	1	0	0	0	0	1	0	0	0	9604	855	30	2	2426	2	MKL2	16	14345845	Missense_Mutation	SNP	C	TCGA-AK-3453-01A-01D-0966-08		14345845	76008908	24	6669											
ACAP1	9744	broad.mit.edu	37	17	7253450	7253450	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:7253450G>C	ENST00000158762.3	+	20	2172	c.1966G>C	c.(1966-1968)Gcc>Ccc	p.A656P	KCTD11_ENST00000333751.3_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|ACAP1_ENST00000570504.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	656	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTCCAGGCTCGCCTGCCTGTT	0.622																																																0													53	59	57					17																	7253450		2203	4300	6503	SO:0001583	missense	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1966G>C	17.37:g.7253450G>C	ENSP00000158762:p.Ala656Pro		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151184	0.94645	.	.	ENSG00000072818	ENST00000158762	T	0.67865	-0.29	5.22	5.22	0.72569	Ankyrin repeat-containing domain (4);	0.057397	0.64402	D	0.000002	T	0.79661	0.4484	M	0.88906	2.99	0.80722	D	1	P	0.47484	0.896	P	0.50896	0.653	D	0.83809	0.0240	10	0.72032	D	0.01	.	16.3819	0.83467	0.0:0.0:1.0:0.0	.	656	Q15027	ACAP1_HUMAN	P	656	ENSP00000158762:A656P	ENSP00000158762:A656P	A	+	1	0	ACAP1	7194174	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	8.802000	0.91910	2.733000	0.93635	0.442000	0.29010	GCC		0.622	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		C	7253450	G	C	7253450	3	2	106	1	0	0	0	0	1	0	0	0	118	1087	38	4	2044	4	ACAP1	17	7253450	Missense_Mutation	SNP	G	TCGA-AK-3453-01A-01D-0966-08		7253450	73941760	25	6670											
MYH3	4621	broad.mit.edu	37	17	10543475	10543475	+	Silent	SNP	G	G	A	rs565057862	byFrequency	TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:10543475G>A	ENST00000583535.1	-	22	2607	c.2520C>T	c.(2518-2520)ctC>ctT	p.L840L	MYH3_ENST00000226209.7_Silent_p.L840L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	840					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACTCTTGAGGAGGGGCTTGA	0.473													G|||	2	0.000399361	0.0	0.0	5008	,	,		18237	0.0		0.0	False		,,,				2504	0.002															0													140	130	133					17																	10543475		2203	4300	6503	SO:0001819	synonymous_variant	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2520C>T	17.37:g.10543475G>A			Q15492	Silent	SNP	ENST00000583535.1	37	CCDS11157.1																																																																																				0.473	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		A	10543475	G	A	10543475	2	1	106	1	0	0	0	0	0	0	0	1	10038	1161	41	2		2	MYH3	17	10543475	Silent	SNP	G	TCGA-AK-3453-01A-01D-0966-08	3290025	10543475	70651735	26	6671											
ABCA9	10350	broad.mit.edu	37	17	67013849	67013849	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr17:67013849C>A	ENST00000340001.4	-	21	3060	c.2849G>T	c.(2848-2850)gGc>gTc	p.G950V	ABCA9_ENST00000370732.2_Missense_Mutation_p.G950V|ABCA9_ENST00000453985.2_Missense_Mutation_p.G950V|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	950					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTCATCTGTGCCATTTCTAGT	0.428																																																0													306	280	289					17																	67013849		2203	4300	6503	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2849G>T	17.37:g.67013849C>A	ENSP00000342216:p.Gly950Val		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046902	0.55110	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86865	-2.07;-2.18	5.1	5.1	0.69264	.	0.000000	0.45867	D	0.000338	D	0.90755	0.7098	M	0.80332	2.49	0.50632	D	0.999884	D;P	0.54047	0.964;0.708	P;P	0.55303	0.773;0.728	D	0.90182	0.4243	10	0.40728	T	0.16	.	11.2116	0.48802	0.1831:0.8169:0.0:0.0	.	950;950	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	V	950;933;950;945	ENSP00000342216:G950V;ENSP00000359767:G950V	ENSP00000342216:G950V	G	-	2	0	ABCA9	64525444	0.862000	0.29867	0.913000	0.36048	0.764000	0.43329	2.870000	0.48451	2.372000	0.80975	0.591000	0.81541	GGC		0.428	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		A	67013849	C	A	67013849	3	1	106	1	0	0	0	0	1	0	0	0	39	739	26	4	2101	4	ABCA9	17	67013849	Missense_Mutation	SNP	C	TCGA-AK-3453-01A-01D-0966-08	56470374	67013849	14181361	27	6672											
OSBPL1A	114876	broad.mit.edu	37	18	21898607	21898607	+	Silent	SNP	G	G	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr18:21898607G>C	ENST00000319481.3	-	9	896	c.690C>G	c.(688-690)gtC>gtG	p.V230V		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	230	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTTGTAGATGACCTGTCAAA	0.284																																																0													39	40	40					18																	21898607		2201	4296	6497	SO:0001819	synonymous_variant	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.690C>G	18.37:g.21898607G>C			B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	CCDS11884.1																																																																																				0.284	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		C	21898607	G	C	21898607	2	2	106	1	0	0	0	0	0	0	0	1	11279	1277	45	4		4	OSBPL1A	18	21898607	Silent	SNP	G	TCGA-AK-3453-01A-01D-0966-08		21898607	56178641	28	6673											
TNFSF9	8744	broad.mit.edu	37	19	6534882	6534882	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:6534882C>T	ENST00000245817.3	+	3	608	c.570C>T	c.(568-570)tcC>tcT	p.S190S		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	190					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CCGCCTCCTCCGAGGCTCGGA	0.697																																																0													14	17	16					19																	6534882		2195	4285	6480	SO:0001819	synonymous_variant	8744			U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.570C>T	19.37:g.6534882C>T			Q2M3S2	Silent	SNP	ENST00000245817.3	37	CCDS12169.1																																																																																				0.697	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		T	6534882	C	T	6534882	2	4	106	1	0	0	0	0	0	0	0	1	16317	639	23	1		1	TNFSF9	19	6534882	Silent	SNP	C	TCGA-AK-3453-01A-01D-0966-08		6534882	52594101	29	6674											
ECSIT	51295	broad.mit.edu	37	19	11617057	11617057	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:11617057G>A	ENST00000270517.7	-	8	1373	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000417981.2_Missense_Mutation_p.P199L|ECSIT_ENST00000591352.1_5'Flank|CTC-398G3.6_ENST00000585656.1_5'Flank|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000591104.1_3'UTR|ECSIT_ENST00000252440.7_3'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	413					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GTGGTCCTCGGGCAGGGGCGG	0.701																																																0													34	35	34					19																	11617057		2176	4265	6441	SO:0001583	missense	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.1238C>T	19.37:g.11617057G>A	ENSP00000270517:p.Pro413Leu		E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609658	0.28623	.	.	ENSG00000130159	ENST00000270517;ENST00000417981	T;T	0.29397	1.57;1.57	4.37	-2.32	0.06745	.	2.778290	0.01093	N	0.005226	T	0.24198	0.0586	L	0.51422	1.61	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.09640	-1.0665	10	0.27082	T	0.32	-1.6588	1.3375	0.02148	0.1975:0.3158:0.3238:0.163	.	199;413	E9PAN9;Q9BQ95	.;ECSIT_HUMAN	L	413;199	ENSP00000270517:P413L;ENSP00000412712:P199L	ENSP00000270517:P413L	P	-	2	0	ECSIT	11478057	0.083000	0.21467	0.000000	0.03702	0.016000	0.09150	1.751000	0.38339	-0.041000	0.13558	0.585000	0.79938	CCC		0.701	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		A	11617057	G	A	11617057	3	1	106	1	0	0	0	0	1	0	0	0	4902	1232	43	2	61	2	ECSIT	19	11617057	Missense_Mutation	SNP	G	TCGA-AK-3453-01A-01D-0966-08	5082175	11617057	47511926	30	6675											
PGLYRP2	114770	broad.mit.edu	37	19	15586419	15586419	+	Silent	SNP	C	C	T			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:15586419C>T	ENST00000340880.4	-	2	1542	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	PGLYRP2_ENST00000292609.4_Silent_p.Q354Q	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	354					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGCTCATGCACTGAAGCTGGA	0.582																																																0													92	90	91					19																	15586419		2203	4300	6503	SO:0001819	synonymous_variant	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1062G>A	19.37:g.15586419C>T			A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	CCDS12330.2																																																																																				0.582	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		T	15586419	C	T	15586419	2	4	106	1	0	0	0	0	0	0	0	1	11796	564	20	2		2	PGLYRP2	19	15586419	Silent	SNP	C	TCGA-AK-3453-01A-01D-0966-08	3969362	15586419	43542564	31	6676											
CATSPERG	57828	broad.mit.edu	37	19	38853184	38853184	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr19:38853184G>C	ENST00000409235.3	+	19	2441	c.2326G>C	c.(2326-2328)Ggc>Cgc	p.G776R	CATSPERG_ENST00000410018.1_Missense_Mutation_p.G736R|CATSPERG_ENST00000215069.4_3'UTR|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	776					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTCGGCGCAGGGCCACTCGTT	0.642																																																0													46	43	44					19																	38853184		2203	4300	6503	SO:0001583	missense	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2326G>C	19.37:g.38853184G>C	ENSP00000386962:p.Gly776Arg		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	6.703	0.498278	0.12762	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.30714	1.52;1.52	3.73	-2.06	0.07298	.	3.563450	0.01550	N	0.019624	T	0.26448	0.0646	L	0.51422	1.61	0.09310	N	0.999996	B;B	0.29162	0.235;0.023	B;B	0.31016	0.123;0.067	T	0.08289	-1.0729	10	0.17832	T	0.49	-4.3188	4.8926	0.13735	0.3944:0.1661:0.4396:0.0	.	776;736	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	R	736;776;776	ENSP00000387057:G736R;ENSP00000386962:G776R	ENSP00000386962:G776R	G	+	1	0	CATSPERG	43545024	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.144000	0.16135	-0.397000	0.07691	-1.598000	0.00824	GGC		0.642	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		C	38853184	G	C	38853184	3	2	106	1	0	0	0	0	1	0	0	0	2694	1232	43	4	2396	4	CATSPERG	19	38853184	Missense_Mutation	SNP	G	TCGA-AK-3453-01A-01D-0966-08	23266765	38853184	20275799	32	6677											
CPXM1	56265	broad.mit.edu	37	20	2775056	2775056	+	Missense_Mutation	SNP	C	C	T	rs372944936		TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chr20:2775056C>T	ENST00000380605.2	-	14	2049	c.1985G>A	c.(1984-1986)cGt>cAt	p.R662H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	662					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTCAGCAGACGCCAATAATC	0.602																																																0									HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	56	55	55		1763,1985	5.1	1	20		55	0,8600		0,0,4300	no	missense,missense	CPXM1	NM_001184699.1,NM_019609.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	588/661,662/735	2775056	1,13005	2203	4300	6503	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1985G>A	20.37:g.2775056C>T	ENSP00000369979:p.Arg662His		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	c	32	5.156125	0.94686	2.27E-4	0.0	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.42513	0.97	5.12	5.12	0.69794	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	H	0.96489	3.83	0.51482	D	0.999926	D	0.89917	1.0	D	0.97110	1.0	T	0.83349	-0.0004	10	0.87932	D	0	-24.3659	16.4323	0.83853	0.0:1.0:0.0:0.0	.	662	Q96SM3	CPXM1_HUMAN	H	662;358	ENSP00000369979:R662H	ENSP00000369979:R662H	R	-	2	0	CPXM1	2723056	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.560000	0.82277	2.821000	0.97095	0.651000	0.88453	CGT		0.602	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		T	2775056	C	T	2775056	3	4	106	1	0	0	0	0	1	0	0	0	3839	536	19	1	223	1	CPXM1	20	2775056	Missense_Mutation	SNP	C	TCGA-AK-3453-01A-01D-0966-08		2775056	60250464	33	6678											
RLIM	51132	broad.mit.edu	37	X	73812620	73812620	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:73812620T>G	ENST00000332687.6	-	4	748	c.530A>C	c.(529-531)gAa>gCa	p.E177A	RLIM_ENST00000349225.2_Missense_Mutation_p.E177A	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	177					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCGTGGGTTTTCCACTTGCCT	0.448																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											0													136	120	125					X																	73812620		2203	4297	6500	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.530A>C	X.37:g.73812620T>G	ENSP00000328059:p.Glu177Ala		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106171	0.56291	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.09073	3.02;3.02	6.16	6.16	0.99307	.	0.365543	0.31404	N	0.007709	T	0.13970	0.0338	L	0.58810	1.83	0.53688	D	0.99997	D	0.53151	0.958	B	0.44224	0.444	T	0.00523	-1.1690	10	0.66056	D	0.02	-18.1388	15.6684	0.77252	0.0:0.0:0.0:1.0	.	177	Q9NVW2	RNF12_HUMAN	A	177	ENSP00000328059:E177A;ENSP00000253571:E177A	ENSP00000328059:E177A	E	-	2	0	RLIM	73729345	1.000000	0.71417	0.980000	0.43619	0.976000	0.68499	4.417000	0.59822	2.085000	0.62840	0.481000	0.45027	GAA		0.448	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		G	73812620	T	G	73812620	3	3	106	1	0	0	0	0	1	0	0	0	13396	1783	62	5	1348	5	RLIM	23	73812620	Missense_Mutation	SNP	T	TCGA-AK-3453-01A-01D-0966-08		73812620	81457940	34	6679											
NXF5	55998	broad.mit.edu	37	X	101095848	101095848	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:101095848C>A	ENST00000361708.2	-	9	859	c.500G>T	c.(499-501)tGc>tTc	p.C167F	NXF5_ENST00000537026.1_Missense_Mutation_p.C167F|NXF5_ENST00000473265.2_Missense_Mutation_p.C167F			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	167					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTTGTTGTTGCACAAGTTCAA	0.483																																																0													108	91	97					X																	101095848		2201	4299	6500	SO:0001583	missense	55998			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.500G>T	X.37:g.101095848C>A	ENSP00000355286:p.Cys167Phe		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37		.	.	.	.	.	.	.	.	.	.	.	13.93	2.384694	0.42308	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.50548	0.74;0.74;0.74	2.05	-2.24	0.06909	.	0.385155	0.26366	U	0.024781	T	0.29882	0.0747	L	0.38175	1.15	0.22710	N	0.998826	P	0.36483	0.555	B	0.36719	0.231	T	0.17137	-1.0379	10	0.72032	D	0.01	.	4.0339	0.09721	0.0:0.4121:0.1806:0.4073	.	167	A2RRM0	.	F	167	ENSP00000442401:C167F;ENSP00000426978:C167F;ENSP00000355286:C167F	ENSP00000263032:C167F	C	-	2	0	NXF5	100982504	0.014000	0.17966	0.000000	0.03702	0.639000	0.38242	1.189000	0.32114	-0.823000	0.04301	0.267000	0.19312	TGC		0.483	NXF5-201	KNOWN	basic	protein_coding	protein_coding				A	101095848	C	A	101095848	3	1	106	1	0	0	0	0	1	0	0	0	10788	710	25	4	629	4	NXF5	23	101095848	Missense_Mutation	SNP	C	TCGA-AK-3453-01A-01D-0966-08	27283228	101095848	54174712	35	6680											
DKC1	1736	broad.mit.edu	37	X	153994193	153994193	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3453-01A-01D-0966-08	TCGA-AK-3453-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9926cc0-ce09-449c-a96e-082be656a1d7	c5f57cc9-32dc-41f5-b43e-8999e241adc4	g.chrX:153994193delG	ENST00000369550.5	+	4	393	c.183delG	c.(181-183)aagfs	p.K61fs	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	61					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTTGATAAGCTGAATGTAA	0.413									Congenital Dyskeratosis																																							0													188	156	167					X																	153994193		2203	4300	6503	SO:0001589	frameshift_variant	1736	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.183delG	X.37:g.153994193delG	ENSP00000358563:p.Lys61fs		F5BSB3|O43845|Q96G67|Q9Y505	Frame_Shift_Del	DEL	ENST00000369550.5	37	CCDS14761.1																																																																																				0.413	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		-	153994193	G	-	153994193	7	5	106	1	0	1	0	1	0	0	0	0	4544	962	34	0	197	0	DKC1	23	153994193	Frame_Shift_Del	DEL	G	TCGA-AK-3453-01A-01D-0966-08	52898345	153994193	1276367	36	6681											
TMEM51	55092	hgsc.bcm.edu	37	1	15546034	15546034	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:15546034C>T	ENST00000428417.1	+	3	1003	c.557C>T	c.(556-558)cCc>cTc	p.P186L	TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376008.2_Missense_Mutation_p.P186L|TMEM51_ENST00000400796.3_Missense_Mutation_p.P186L|TMEM51_ENST00000376014.3_Missense_Mutation_p.P186L	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	186						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CCTGGGAACCCCCCTGACAGG	0.542																																																0													61	69	66					1																	15546034		2203	4300	6503	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.557C>T	1.37:g.15546034C>T	ENSP00000394899:p.Pro186Leu		A8K819	Missense_Mutation	SNP	ENST00000428417.1	37	CCDS154.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638812	0.29157	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.53	4.63	0.57726	.	0.278140	0.41605	D	0.000859	T	0.31949	0.0813	L	0.56769	1.78	0.09310	N	0.999996	B	0.15473	0.013	B	0.09377	0.004	T	0.27640	-1.0068	10	0.62326	D	0.03	-12.7758	13.5225	0.61576	0.0:0.9248:0.0:0.0752	.	186	Q9NW97	TMM51_HUMAN	L	186	ENSP00000394899:P186L;ENSP00000365182:P186L;ENSP00000383600:P186L;ENSP00000365176:P186L	ENSP00000303666:P186L	P	+	2	0	TMEM51	15418621	0.000000	0.05858	0.021000	0.16686	0.502000	0.33828	0.548000	0.23314	1.351000	0.45789	0.555000	0.69702	CCC		0.542	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		T	15546034	C	T	15546034	3	4	107	1	0	0	0	0	1	0	0	0	16182	623	22	2	563	2	TMEM51	1	15546034	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10		15546034	233704587	1	6682											
ATP13A2	23400	hgsc.bcm.edu	37	1	17331235	17331235	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:17331235C>A	ENST00000326735.8	-	5	462	c.429G>T	c.(427-429)aaG>aaT	p.K143N	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.K143N|ATP13A2_ENST00000341676.5_Missense_Mutation_p.K143N			Q9NQ11	AT132_HUMAN	ATPase type 13A2	143					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGGCCGTATCCTTCCAGGCAC	0.647																																																0													85	88	87					1																	17331235		2203	4300	6503	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.429G>T	1.37:g.17331235C>A	ENSP00000327214:p.Lys143Asn		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.75|13.75	2.329506|2.329506	0.41197|0.41197	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000510069;ENST00000508222;ENST00000509619|ENST00000326735;ENST00000341676;ENST00000452699;ENST00000511957	.|T;T;T;T	.|0.67698	.|1.91;1.91;1.91;-0.28	4.38|4.38	0.843|0.843	0.18935|0.18935	.|.	.|1.632390	.|0.02866	.|N	.|0.130998	.|T	.|0.60143	.|0.2246	L|L	0.44542|0.44542	1.39|1.39	0.27414|0.27414	N|N	0.954498|0.954498	.|B;B;B	.|0.32010	.|0.001;0.351;0.173	.|B;B;B	.|0.35182	.|0.017;0.197;0.158	.|T	.|0.43702	.|-0.9375	.|10	.|0.17369	.|T	.|0.5	-13.4973|-13.4973	8.6192|8.6192	0.33851|0.33851	0.0:0.6573:0.0:0.3427|0.0:0.6573:0.0:0.3427	.|.	.|143;143;143	.|Q5JXY1;Q6S9Z9;Q9NQ11	.|.;.;AT132_HUMAN	X|N	119;55;136|143;143;143;47	.|ENSP00000327214:K143N;ENSP00000341115:K143N;ENSP00000413307:K143N;ENSP00000427241:K47N	.|ENSP00000327214:K143N	G|K	-|-	1|3	0|2	ATP13A2|ATP13A2	17203822|17203822	0.981000|0.981000	0.34729|0.34729	0.996000|0.996000	0.52242|0.52242	0.832000|0.832000	0.47134|0.47134	0.695000|0.695000	0.25527|0.25527	0.418000|0.418000	0.25898|0.25898	0.313000|0.313000	0.20887|0.20887	GGA|AAG		0.647	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		A	17331235	C	A	17331235	3	1	107	1	0	0	0	0	1	0	0	0	1124	680	24	4	3449	4	ATP13A2	1	17331235	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10	1785201	17331235	231919386	2	6683											
THRAP3	9967	hgsc.bcm.edu	37	1	36755272	36755272	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:36755272A>G	ENST00000354618.5	+	5	1876	c.1652A>G	c.(1651-1653)aAa>aGa	p.K551R	THRAP3_ENST00000469141.2_Missense_Mutation_p.K551R	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	551	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGGAGCGAAAGGAGATTTT	0.498			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													88	94	92					1																	36755272		2203	4300	6503	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1652A>G	1.37:g.36755272A>G	ENSP00000346634:p.Lys551Arg		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	A	1.316	-0.600945	0.03744	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.14766	2.48;2.48	6.06	3.79	0.43588	.	0.216161	0.40640	N	0.001058	T	0.06826	0.0174	N	0.16478	0.41	0.39688	D	0.971008	B	0.10296	0.003	B	0.14578	0.011	T	0.13980	-1.0489	10	0.02654	T	1	-16.1802	10.3515	0.43939	0.8827:0.0:0.1173:0.0	.	551	Q9Y2W1	TR150_HUMAN	R	551	ENSP00000346634:K551R;ENSP00000433825:K551R	ENSP00000346634:K551R	K	+	2	0	THRAP3	36527859	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	2.280000	0.43443	2.324000	0.78689	0.533000	0.62120	AAA		0.498	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		G	36755272	A	G	36755272	3	3	107	1	0	0	0	0	1	0	0	0	15879	14	1	3	1662	3	THRAP3	1	36755272	Missense_Mutation	SNP	A	TCGA-AK-3454-01A-02D-1361-10	19424037	36755272	212495349	3	6684											
KIAA0754	643314	hgsc.bcm.edu;ucsc.edu	37	1	39877885	39877885	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:39877885G>A	ENST00000530275.1	+	1	1735	c.1540G>A	c.(1540-1542)Gtc>Atc	p.V514I	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	514										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTGAGAGGGTCACCTTCAG	0.428																																																0													218	210	213					1																	39877885		1920	4137	6057	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1540G>A	1.37:g.39877885G>A	ENSP00000431179:p.Val514Ile		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	G	0.218	-1.031075	0.02029	.	.	ENSG00000255103	ENST00000530275	D	0.85629	-2.01	4.88	-6.21	0.02065	.	.	.	.	.	T	0.59088	0.2168	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.57189	-0.7854	9	0.02654	T	1	.	1.7302	0.02930	0.146:0.1907:0.2784:0.385	.	514	O94854	K0754_HUMAN	I	514	ENSP00000431179:V514I	ENSP00000431179:V514I	V	+	1	0	RP4-562N20.1	39650472	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.220000	0.09215	-1.454000	0.01926	-0.797000	0.03246	GTC		0.428	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		A	39877885	G	A	39877885	3	1	107	1	0	0	0	0	1	0	0	0	8194	1261	44	2	1950	2	KIAA0754	1	39877885	Missense_Mutation	SNP	G	TCGA-AK-3454-01A-02D-1361-10	3122613	39877885	209372736	4	6685											
ORC1L	4998	hgsc.bcm.edu	37	1	52849148	52849148	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:52849148C>T	ENST00000371568.3	-	13	2175	c.1957G>A	c.(1957-1959)Gcc>Acc	p.A653T	ORC1_ENST00000371566.1_Missense_Mutation_p.A653T	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	653	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATTGTGTTGGCAATTGCCAGG	0.522																																																0													84	79	81					1																	52849148		2203	4300	6503	SO:0001583	missense	0				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1957G>A	1.37:g.52849148C>T	ENSP00000360623:p.Ala653Thr		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153984	0.94645	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	D;D	0.90385	-2.66;-2.66	5.65	4.68	0.58851	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.094727	0.64402	D	0.000001	D	0.94679	0.8284	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94832	0.7997	10	0.87932	D	0	-16.9746	16.397	0.83610	0.0:0.8685:0.1315:0.0	.	648;653	B7Z8H0;Q13415	.;ORC1_HUMAN	T	653	ENSP00000360623:A653T;ENSP00000360621:A653T	ENSP00000360621:A653T	A	-	1	0	ORC1	52621736	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.692000	0.68256	2.826000	0.97356	0.563000	0.77884	GCC		0.522	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		T	52849148	C	T	52849148	3	4	107	1	0	0	0	0	1	0	0	0	11263	710	25	2	648	2	ORC1L	1	52849148	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10	12971263	52849148	196401473	5	6686											
C1orf52	148423	hgsc.bcm.edu;ucsc.edu	37	1	85724326	85724326	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:85724326G>A	ENST00000471115.1	-	2	364	c.356C>T	c.(355-357)cCt>cTt	p.P119L	C1orf52_ENST00000344356.5_Missense_Mutation_p.P119L|C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	119							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		AAGCTCTGGAGGCGGAGGCTT	0.438																																																0													146	137	140					1																	85724326		2203	4300	6503	SO:0001583	missense	148423			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.356C>T	1.37:g.85724326G>A	ENSP00000419417:p.Pro119Leu		B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP	ENST00000471115.1	37	CCDS703.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124816	0.77436	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.72590	0.3479	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70876	-0.4753	9	0.41790	T	0.15	-7.335	18.1683	0.89736	0.0:0.0:1.0:0.0	.	119;119	Q8N6N3-2;Q8N6N3	.;CA052_HUMAN	L	119	.	ENSP00000345092:P119L	P	-	2	0	C1orf52	85496914	1.000000	0.71417	0.671000	0.29857	0.641000	0.38312	8.782000	0.91809	2.565000	0.86533	0.655000	0.94253	CCT		0.438	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077		A	85724326	G	A	85724326	3	1	107	1	0	0	0	0	1	0	0	0	2046	1000	35	2	200	2	C1orf52	1	85724326	Missense_Mutation	SNP	G	TCGA-AK-3454-01A-02D-1361-10	32875178	85724326	163526295	6	6687											
PHGDH	26227	hgsc.bcm.edu	37	1	120277939	120277939	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:120277939T>G	ENST00000369409.4	+	7	801	c.665T>G	c.(664-666)tTt>tGt	p.F222C	PHGDH_ENST00000369407.3_Missense_Mutation_p.F188C	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	222					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GACAACACCTTTGCCCAGTGC	0.627																																																0													127	131	129					1																	120277939		2203	4300	6503	SO:0001583	missense	26227			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.665T>G	1.37:g.120277939T>G	ENSP00000358417:p.Phe222Cys		B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	27.2	4.813293	0.90707	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000535091;ENST00000369407	D;D	0.83250	-1.7;-1.7	5.23	5.23	0.72850	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	M	0.92219	3.285	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.997	D	0.93682	0.6999	10	0.87932	D	0	-0.8789	13.9369	0.64029	0.0:0.0:0.0:1.0	.	94;188;188;95;222	Q9UMY2;B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;.;SERA_HUMAN	C	222;95;54;188	ENSP00000358417:F222C;ENSP00000358415:F188C	ENSP00000358415:F188C	F	+	2	0	PHGDH	120079462	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.579000	0.82511	1.991000	0.58162	0.533000	0.62120	TTT		0.627	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		G	120277939	T	G	120277939	3	3	107	1	0	0	0	0	1	0	0	0	11843	1841	64	5	691	5	PHGDH	1	120277939	Missense_Mutation	SNP	T	TCGA-AK-3454-01A-02D-1361-10	34553613	120277939	128972682	7	6688											
ARV1	64801	hgsc.bcm.edu	37	1	231131724	231131724	+	Missense_Mutation	SNP	A	A	G	rs201927559		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:231131724A>G	ENST00000310256.2	+	4	724	c.667A>G	c.(667-669)Att>Gtt	p.I223V	ARV1_ENST00000366658.2_Missense_Mutation_p.I183V|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	223					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		TTTTCAGGCAATTAGAGGTAT	0.358																																																0													86	85	85					1																	231131724		2203	4300	6503	SO:0001583	missense	64801			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"ARV1 homolog (yeast)"			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.667A>G	1.37:g.231131724A>G	ENSP00000312458:p.Ile223Val		A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Missense_Mutation	SNP	ENST00000310256.2	37	CCDS1589.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854700	0.32791	.	.	ENSG00000173409	ENST00000310256;ENST00000366658	T;T	0.42131	0.98;0.98	5.4	-2.61	0.06171	.	0.295654	0.35903	N	0.002902	T	0.24586	0.0596	N	0.21583	0.68	0.31976	N	0.606516	B	0.14805	0.011	B	0.16289	0.015	T	0.10730	-1.0617	10	0.39692	T	0.17	-13.6335	11.2991	0.49295	0.6108:0.0:0.3892:0.0	.	223	Q9H2C2	ARV1_HUMAN	V	223;183	ENSP00000312458:I223V;ENSP00000355618:I183V	ENSP00000312458:I223V	I	+	1	0	ARV1	229198347	0.999000	0.42202	0.080000	0.20451	0.955000	0.61496	3.506000	0.53364	-0.396000	0.07703	0.528000	0.53228	ATT		0.358	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786		G	231131724	A	G	231131724	3	3	107	1	0	0	0	0	1	0	0	0	1002	101	4	3	681	3	ARV1	1	231131724	Missense_Mutation	SNP	A	TCGA-AK-3454-01A-02D-1361-10	110853785	231131724	18118897	8	6689											
STON1	11037	hgsc.bcm.edu;ucsc.edu	37	2	48807891	48807891	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:48807891T>C	ENST00000406226.1	+	3	314	c.119T>C	c.(118-120)cTg>cCg	p.L40P	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.L40P|STON1_ENST00000404752.1_Missense_Mutation_p.L40P|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L40P|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L40P|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L40P|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L40P|STON1_ENST00000309835.3_Missense_Mutation_p.L40P	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	40					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAAATGGACTGAAGCTGAAC	0.463																																																0													93	87	89					2																	48807891		2203	4300	6503	SO:0001583	missense	11037			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.119T>C	2.37:g.48807891T>C	ENSP00000384615:p.Leu40Pro		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460922	0.63513	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.26810	1.85;1.85;1.85;1.74;1.71;1.74;1.74;1.93	5.35	5.35	0.76521	.	0.128255	0.53938	D	0.000047	T	0.49253	0.1546	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.49643	-0.8918	10	0.72032	D	0.01	.	15.79	0.78350	0.0:0.0:0.0:1.0	.	40;40;40	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	P	40	ENSP00000385273:L40P;ENSP00000384615:L40P;ENSP00000310969:L40P;ENSP00000385499:L40P;ENSP00000385701:L40P;ENSP00000378236:L40P;ENSP00000311493:L40P;ENSP00000378234:L40P	ENSP00000310969:L40P	L	+	2	0	STON1-GTF2A1L;STON1	48661395	1.000000	0.71417	0.965000	0.40720	0.970000	0.65996	6.794000	0.75135	2.371000	0.80710	0.533000	0.62120	CTG		0.463	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		C	48807891	T	C	48807891	3	2	107	1	0	0	0	0	1	0	0	0	15321	1580	55	3	121	3	STON1	2	48807891	Missense_Mutation	SNP	T	TCGA-AK-3454-01A-02D-1361-10		48807891	194391482	9	6690											
MRPL53	116540	hgsc.bcm.edu	37	2	74699716	74699716	+	Silent	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:74699716C>T	ENST00000258105.7	-	1	733	c.72G>A	c.(70-72)gaG>gaA	p.E24E	MRPL53_ENST00000409710.1_Silent_p.E24E	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	24						mitochondrion (GO:0005739)|ribosome (GO:0005840)				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						CCACGTTTTTCTCGAAGGGAC	0.607																																																0													115	104	107					2																	74699716		2203	4300	6503	SO:0001819	synonymous_variant	116540			BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"Mitochondrial ribosomal proteins / large subunits"	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.72G>A	2.37:g.74699716C>T				Silent	SNP	ENST00000258105.7	37	CCDS1944.1																																																																																				0.607	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252225.2	NM_053050		T	74699716	C	T	74699716	2	4	107	1	0	0	0	0	0	0	0	1	9819	912	32	2		2	MRPL53	2	74699716	Silent	SNP	C	TCGA-AK-3454-01A-02D-1361-10	25891825	74699716	168499657	10	6691											
TMEM131	23505	hgsc.bcm.edu;ucsc.edu	37	2	98429106	98429106	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:98429106A>T	ENST00000186436.5	-	16	1952	c.1724T>A	c.(1723-1725)aTt>aAt	p.I575N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	575						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTTTACCTCAATTGGATTGCT	0.294																																																0													62	61	61					2																	98429106		1803	4057	5860	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1724T>A	2.37:g.98429106A>T	ENSP00000186436:p.Ile575Asn			Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166958	0.78339	.	.	ENSG00000075568	ENST00000186436	T	0.36340	1.26	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.59032	-0.7530	10	0.72032	D	0.01	-17.4619	14.6021	0.68447	1.0:0.0:0.0:0.0	.	575	Q92545	TM131_HUMAN	N	575	ENSP00000186436:I575N	ENSP00000186436:I575N	I	-	2	0	TMEM131	97795538	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.823000	0.86660	2.247000	0.74100	0.482000	0.46254	ATT		0.294	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		T	98429106	A	T	98429106	3	4	107	1	0	0	0	0	1	0	0	0	16049	101	4	5	4031	5	TMEM131	2	98429106	Missense_Mutation	SNP	A	TCGA-AK-3454-01A-02D-1361-10	23729390	98429106	144770267	11	6692											
CFC1	653275	hgsc.bcm.edu	37	2	131279423	131279423	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:131279423A>C	ENST00000281882.3	+	2	349	c.61A>C	c.(61-63)Aat>Cat	p.N21H	AC013269.3_ENST00000450486.1_RNA	NM_001079530.1	NP_001072998.1	P0CG36	CFC1B_HUMAN	cripto, FRL-1, cryptic family 1B	21					gastrulation (GO:0007369)	extracellular region (GO:0005576)						Colorectal(110;0.1)					ACAGATCATCAATTTGGGAAA	0.264																																																0																																										SO:0001583	missense	653275				CCDS33286.1	2q21.1	2008-09-04			ENSG00000152093	ENSG00000152093			33983	protein-coding gene	gene with protein product							Standard	NM_001079530		Approved		uc002trl.2	P0CG36	OTTHUMG00000153959	ENST00000281882.3:c.61A>C	2.37:g.131279423A>C	ENSP00000281882:p.Asn21His		B2RCY0|B9EJD3|Q53T05|Q9GZR3	Missense_Mutation	SNP	ENST00000281882.3	37	CCDS33286.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.347229	0.00219	.	.	ENSG00000152093	ENST00000281882	D	0.89196	-2.48	3.41	2.47	0.30058	.	1.040440	0.07509	N	0.908622	T	0.70369	0.3216	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.64019	-0.6505	9	0.19590	T	0.45	-2.1303	7.8928	0.29688	0.3024:0.6976:0.0:0.0	.	21	P0CG36	CFC1B_HUMAN	H	21	ENSP00000281882:N21H	ENSP00000281882:N21H	N	+	1	0	CFC1B	130995893	0.001000	0.12720	0.003000	0.11579	0.057000	0.15508	0.584000	0.23864	0.914000	0.36822	-0.484000	0.04775	AAT		0.264	CFC1B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254521.1	NM_001079530		C	131279423	A	C	131279423	3	2	107	1	0	0	0	0	1	0	0	0	3281	130	5	5	67	5	CFC1	2	131279423	Missense_Mutation	SNP	A	TCGA-AK-3454-01A-02D-1361-10	32850317	131279423	111919950	12	6693											
NEB	4703	hgsc.bcm.edu;ucsc.edu	37	2	152347020	152347020	+	Missense_Mutation	SNP	C	C	A	rs139333406	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:152347020C>A	ENST00000172853.10	-	147	19742	c.19595G>T	c.(19594-19596)cGc>cTc	p.R6532L	NEB_ENST00000509223.2_Missense_Mutation_p.R301L|NEB_ENST00000397336.2_Missense_Mutation_p.R363L|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000397345.3_Missense_Mutation_p.R8388L|NEB_ENST00000604864.1_Missense_Mutation_p.R8388L|RIF1_ENST00000457745.1_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.R8388L|NEB_ENST00000603639.1_Missense_Mutation_p.R8388L|NEB_ENST00000409198.1_Missense_Mutation_p.R6532L			P20929	NEBU_HUMAN	nebulin	6532	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCGGCTCCGGCGCTGAGCTTG	0.502																																																0													37	38	38					2																	152347020		2006	4198	6204	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19595G>T	2.37:g.152347020C>A	ENSP00000172853:p.Arg6532Leu		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.955186|3.955186	0.73902|0.73902	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	.|T;T;T;T;T;T;T	.|0.07114	.|3.35;3.39;3.39;3.22;3.35;3.96;4.12	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.29716|0.29716	0.0742|0.0742	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D;D;B;D;P	.|0.89917	.|0.997;0.999;0.978;0.149;1.0;0.801	.|D;D;P;B;D;P	.|0.81914	.|0.987;0.987;0.612;0.038;0.995;0.502	T|T	0.00544|0.00544	-1.1679|-1.1679	5|10	.|0.42905	.|T	.|0.14	.|.	18.7735|18.7735	0.91901|0.91901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|301;363;301;6532;2870;8388	.|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.|.;.;.;NEBU_HUMAN;.;.	S|L	522;629|6532;8388;8388;2488;2870;6532;363;301	.|ENSP00000386259:R6532L;ENSP00000380505:R8388L;ENSP00000416578:R8388L;ENSP00000410961:R2870L;ENSP00000172853:R6532L;ENSP00000380497:R363L;ENSP00000427083:R301L	.|ENSP00000172853:R6532L	A|R	-|-	1|2	0|0	NEB|NEB	152055266|152055266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.252000|0.252000	0.25951|0.25951	7.425000|7.425000	0.80255|0.80255	2.526000|2.526000	0.85167|0.85167	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.502	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152347020	C	A	152347020	3	1	107	1	0	0	0	0	1	0	0	0	10304	768	27	4	426	4	NEB	2	152347020	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10	21067597	152347020	90852353	13	6694											
TBR1	10716	hgsc.bcm.edu	37	2	162273245	162273245	+	Silent	SNP	T	T	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:162273245T>G	ENST00000389554.3	+	1	641	c.324T>G	c.(322-324)tcT>tcG	p.S108S	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	108					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACCTCCTCTCTCAGTCCAGCC	0.632																																																0													98	107	104					2																	162273245		2203	4300	6503	SO:0001819	synonymous_variant	10716			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.324T>G	2.37:g.162273245T>G			B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	CCDS33310.1																																																																																				0.632	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		G	162273245	T	G	162273245	2	3	107	1	0	0	0	0	0	0	0	1	15652	1538	54	5		5	TBR1	2	162273245	Silent	SNP	T	TCGA-AK-3454-01A-02D-1361-10	9926225	162273245	80926128	14	6695											
SOX14	8403	hgsc.bcm.edu	37	3	137483860	137483860	+	Silent	SNP	A	A	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr3:137483860A>T	ENST00000306087.1	+	1	282	c.234A>T	c.(232-234)cgA>cgT	p.R78R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	78					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						ACAAGTACCGACCTCGGCGCA	0.612																																																0													133	143	140					3																	137483860		2203	4300	6503	SO:0001819	synonymous_variant	8403			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.234A>T	3.37:g.137483860A>T			B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	CCDS3094.1																																																																																				0.612	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		T	137483860	A	T	137483860	2	4	107	1	0	0	0	0	0	0	0	1	14951	262	10	5		5	SOX14	3	137483860	Silent	SNP	A	TCGA-AK-3454-01A-02D-1361-10		137483860	60538570	15	6696											
OTOP1	133060	hgsc.bcm.edu	37	4	4190683	4190683	+	Silent	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr4:4190683G>A	ENST00000296358.4	-	6	1710	c.1686C>T	c.(1684-1686)gcC>gcT	p.A562A		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	562					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACAGCCAAAGGCGGGAGGTA	0.517																																																0													48	51	50					4																	4190683		2202	4300	6502	SO:0001819	synonymous_variant	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1686C>T	4.37:g.4190683G>A			A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																				0.517	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		A	4190683	G	A	4190683	2	1	107	1	0	0	0	0	0	0	0	1	11307	987	35	2		2	OTOP1	4	4190683	Silent	SNP	G	TCGA-AK-3454-01A-02D-1361-10		4190683	186963593	16	6697											
UGT3A1	133688	hgsc.bcm.edu	37	5	35965615	35965615	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr5:35965615T>C	ENST00000274278.3	-	4	1073	c.716A>G	c.(715-717)cAt>cGt	p.H239R	UGT3A1_ENST00000503189.1_Missense_Mutation_p.H239R|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.H185R|UGT3A1_ENST00000507113.1_Missense_Mutation_p.H205R	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	239						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTAGAAGATGAGACAAAAC	0.448																																																0													118	122	120					5																	35965615		2203	4300	6503	SO:0001583	missense	133688				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.716A>G	5.37:g.35965615T>C	ENSP00000274278:p.His239Arg		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.427458	0.25726	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	3.05	1.78	0.24846	.	0.580480	0.15513	N	0.258425	T	0.63686	0.2532	M	0.75264	2.295	0.23542	N	0.997456	P;B;B;B	0.51057	0.941;0.257;0.13;0.156	P;B;B;B	0.51016	0.656;0.216;0.064;0.216	T	0.56044	-0.8044	10	0.87932	D	0	.	8.5009	0.33156	0.0:0.0:0.1973:0.8027	.	205;239;185;239	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	R	239;239;205;185	ENSP00000274278:H239R;ENSP00000427079:H239R;ENSP00000426100:H205R;ENSP00000328033:H185R	ENSP00000274278:H239R	H	-	2	0	UGT3A1	36001372	0.602000	0.26916	0.968000	0.41197	0.556000	0.35491	1.154000	0.31688	0.305000	0.22832	0.260000	0.18958	CAT		0.448	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		C	35965615	T	C	35965615	3	2	107	1	0	0	0	0	1	0	0	0	16968	1464	51	3	953	3	UGT3A1	5	35965615	Missense_Mutation	SNP	T	TCGA-AK-3454-01A-02D-1361-10		35965615	144949645	17	6698											
NIPBL	25836	hgsc.bcm.edu;ucsc.edu	37	5	37064853	37064853	+	Silent	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr5:37064853A>G	ENST00000282516.8	+	47	8773	c.8274A>G	c.(8272-8274)aaA>aaG	p.K2758K		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2758					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATGGCCGCAAACTGGTGCCTT	0.458																																																0													85	80	82					5																	37064853		2203	4300	6503	SO:0001819	synonymous_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8274A>G	5.37:g.37064853A>G			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																				0.458	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	37064853	A	G	37064853	2	3	107	1	0	0	0	0	0	0	0	1	10430	40	2	3		3	NIPBL	5	37064853	Silent	SNP	A	TCGA-AK-3454-01A-02D-1361-10	1099238	37064853	143850407	18	6699											
PPP2CA	5515	hgsc.bcm.edu;ucsc.edu	37	5	133533531	133533531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr5:133533531G>A	ENST00000481195.1	-	7	1142	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	288					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	GGGTCAAACTGCAAGCTGAAA	0.428																																																0													80	83	82					5																	133533531		2203	4300	6503	SO:0001587	stop_gained	5515				CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9299	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, alpha isoform"	176915	"protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.862C>T	5.37:g.133533531G>A	ENSP00000418447:p.Gln288*		P05323|P13197	Nonsense_Mutation	SNP	ENST00000481195.1	37	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	g	38	6.764526	0.97821	.	.	ENSG00000113575	ENST00000481195	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.1366	20.4216	0.99039	0.0:0.0:1.0:0.0	.	.	.	.	X	288	.	ENSP00000418447:Q288X	Q	-	1	0	PPP2CA	133561430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.839000	0.97877	0.580000	0.79431	CAG		0.428	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		A	133533531	G	A	133533531	4	1	107	1	0	0	0	0	0	1	0	0	12385	1328	46	2	71	2	PPP2CA	5	133533531	Nonsense_Mutation	SNP	G	TCGA-AK-3454-01A-02D-1361-10	96468678	133533531	47381729	19	6700											
HMP19	51617	hgsc.bcm.edu;ucsc.edu	37	5	173534370	173534370	+	Silent	SNP	C	C	T	rs11557147		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr5:173534370C>T	ENST00000303177.3	+	5	640	c.378C>T	c.(376-378)ccC>ccT	p.P126P	NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		126					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.P126P(1)									CCCAGGACCCCAATTCCAGAA	0.592																																																1	Substitution - coding silent(1)	lung(1)											73	73	73					5																	173534370		2203	4300	6503	SO:0001819	synonymous_variant	51617																														ENST00000303177.3:c.378C>T	5.37:g.173534370C>T			B2R5Y0|D3DQN0|Q9UHX8	Silent	SNP	ENST00000303177.3	37	CCDS4391.1																																																																																				0.592	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2			T	173534370	C	T	173534370	2	4	107	1	0	0	0	0	0	0	0	1	7247	581	21	2		2	HMP19	5	173534370	Silent	SNP	C	TCGA-AK-3454-01A-02D-1361-10	40000839	173534370	7380890	20	6701											
BTNL3	10917	hgsc.bcm.edu;ucsc.edu	37	5	180429757	180429759	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	GAT	GAT	GAT	-	GAT	GAT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr5:180429757_180429759delGAT	ENST00000342868.6	+	4	943_945	c.759_761delGAT	c.(757-762)gggatg>ggg	p.M254del		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	254						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTGTCATGGGGATGATAATTGTT	0.493																																																0																																										SO:0001651	inframe_deletion	10917			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.759_761delGAT	5.37:g.180429760_180429762delGAT	ENSP00000341787:p.Met254del		Q496L7|Q9Y2C7	In_Frame_Del	DEL	ENST00000342868.6	37	CCDS47358.1																																																																																				0.493	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		-	180429759	GAT	-	180429757	7	5	107	1	0	1	0	1	0	0	0	0	1568	1161	41	0	773	0	BTNL3	5	180429757	In_Frame_Del	DEL	GAT	TCGA-AK-3454-01A-02D-1361-10	6895387	180429757	485503	21	6702											
TXNDC5	81567	hgsc.bcm.edu;ucsc.edu	37	6	7904905	7904905	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr6:7904905T>G	ENST00000379757.4	-	2	352	c.315A>C	c.(313-315)aaA>aaC	p.K105N	TXNDC5_ENST00000473453.1_5'UTR|TXNDC5_ENST00000539054.1_Missense_Mutation_p.K33N|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	105	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TGCTGTTGTATTTGTCTCCCA	0.567																																					Ovarian(119;1430 1625 3928 26125 34589)											0													173	128	143					6																	7904905		2203	4300	6503	SO:0001583	missense	81567			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.315A>C	6.37:g.7904905T>G	ENSP00000369081:p.Lys105Asn		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	.	13.77	2.335639	0.41398	.	.	ENSG00000239264	ENST00000539054;ENST00000379757	T;T	0.03635	3.86;3.86	5.18	3.09	0.35607	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	M	0.72479	2.2	0.47737	D	0.999504	D;D	0.89917	0.992;1.0	D;D	0.97110	0.954;1.0	T	0.26292	-1.0107	10	0.32370	T	0.25	.	6.6185	0.22790	0.0:0.6357:0.0:0.3643	.	33;105	Q86UY0;Q8NBS9	.;TXND5_HUMAN	N	33;105	ENSP00000442453:K33N;ENSP00000369081:K105N	ENSP00000442453:K33N	K	-	3	2	TXNDC5	7849904	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	1.356000	0.34079	1.133000	0.42147	-0.477000	0.04895	AAA		0.567	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		G	7904905	T	G	7904905	3	3	107	1	0	0	0	0	1	0	0	0	16804	1490	52	5	1019	5	TXNDC5	6	7904905	Missense_Mutation	SNP	T	TCGA-AK-3454-01A-02D-1361-10		7904905	163210162	22	6703											
TFEB	7942	hgsc.bcm.edu;ucsc.edu	37	6	41655521	41655521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr6:41655521C>A	ENST00000230323.4	-	7	998	c.697G>T	c.(697-699)Gag>Tag	p.E233*	TFEB_ENST00000403298.4_Nonsense_Mutation_p.E233*|TFEB_ENST00000420312.1_Nonsense_Mutation_p.E148*|TFEB_ENST00000358871.2_Nonsense_Mutation_p.E247*|TFEB_ENST00000394283.1_Nonsense_Mutation_p.E233*|TFEB_ENST00000373033.1_Nonsense_Mutation_p.E233*	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	233					autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTCTGCCGCTCCTTGGCCAGG	0.577			T	ALPHA	renal (childhood epithelioid)																																		Dom	yes		6	6p21	7942	transcription factor EB		"E,M"	0													95	97	96					6																	41655521		2203	4300	6503	SO:0001587	stop_gained	7942			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"Basic helix-loop-helix proteins"	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.697G>T	6.37:g.41655521C>A	ENSP00000230323:p.Glu233*		Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Nonsense_Mutation	SNP	ENST00000230323.4	37	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	C	39	7.844423	0.98522	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396;ENST00000416140	.	.	.	5.1	5.1	0.69264	.	0.046124	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.4069	18.4741	0.90785	0.0:1.0:0.0:0.0	.	.	.	.	X	91;319;233;247;233;148;233;233;233;233	.	ENSP00000230323:E233X	E	-	1	0	TFEB	41763499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.533000	0.85409	0.557000	0.71058	GAG		0.577	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			A	41655521	C	A	41655521	4	1	107	1	0	0	0	0	0	1	0	0	15806	864	30	4	749	4	TFEB	6	41655521	Nonsense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10	33750616	41655521	129459546	23	6704											
SLC35B2	347734	hgsc.bcm.edu;ucsc.edu	37	6	44224154	44224154	+	Silent	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr6:44224154C>T	ENST00000393812.3	-	3	428	c.285G>A	c.(283-285)gcG>gcA	p.A95A	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_Intron|SLC35B2_ENST00000538577.1_Intron|MIR4647_ENST00000583964.1_RNA	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	95					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGTTCGGGGCGCCAGGGGAA	0.607																																																0													55	63	61					6																	44224154		2203	4300	6503	SO:0001819	synonymous_variant	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.285G>A	6.37:g.44224154C>T			B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	CCDS34462.1																																																																																				0.607	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			T	44224154	C	T	44224154	2	4	107	1	0	0	0	0	0	0	0	1	14582	755	27	1		1	SLC35B2	6	44224154	Silent	SNP	C	TCGA-AK-3454-01A-02D-1361-10	2568633	44224154	126890913	24	6705											
EYS	346007	hgsc.bcm.edu	37	6	64776299	64776299	+	Silent	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr6:64776299A>G	ENST00000370621.3	-	33	7183	c.6657T>C	c.(6655-6657)tcT>tcC	p.S2219S	EYS_ENST00000370616.2_Silent_p.S2219S|EYS_ENST00000503581.1_Silent_p.S2219S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2219	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAATATTTTGAGAATTTCCAC	0.353																																																0													174	154	160					6																	64776299		692	1591	2283	SO:0001819	synonymous_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6657T>C	6.37:g.64776299A>G			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37																																																																																					0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	64776299	A	G	64776299	2	3	107	1	0	0	0	0	0	0	0	1	5334	291	11	3		3	EYS	6	64776299	Silent	SNP	A	TCGA-AK-3454-01A-02D-1361-10	20552145	64776299	106338768	25	6706											
BAI3	577	hgsc.bcm.edu;ucsc.edu	37	6	69943308	69943308	+	Splice_Site	SNP	A	A	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr6:69943308A>T	ENST00000370598.1	+	18	3428	c.2607A>T	c.(2605-2607)atA>atT	p.I869I	BAI3_ENST00000238918.8_Splice_Site_p.I75I	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	869					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTAGAGAAATAGTAAGTAACA	0.433																																																0													133	123	126					6																	69943308		2203	4300	6503	SO:0001630	splice_region_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2607+1A>T	6.37:g.69943308A>T			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.433	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Silent	T	69943308	A	T	69943308	5	4	107	1	0	0	0	0	0	0	1	0	1300	434	15	5	2669	5	BAI3	6	69943308	Splice_Site	SNP	A	TCGA-AK-3454-01A-02D-1361-10	5167009	69943308	101171759	26	6707											
PHKG1	5260	hgsc.bcm.edu	37	7	56155465	56155465	+	Missense_Mutation	SNP	C	C	T	rs571114908		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr7:56155465C>T	ENST00000297373.2	-	3	282	c.88G>A	c.(88-90)Gtt>Att	p.V30I	PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000452681.2_Missense_Mutation_p.V30I|PHKG1_ENST00000489604.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	30	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACACTGCTAACGCCCCTGGGA	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15886	0.0		0.0	False		,,,				2504	0.0				Melanoma(184;580 2064 5329 24177 35303)											0													46	40	42					7																	56155465		2203	4300	6503	SO:0001583	missense	5260			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.88G>A	7.37:g.56155465C>T	ENSP00000297373:p.Val30Ile		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127382	0.37533	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	T;T	0.39229	3.3;1.09	5.42	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094778	0.44483	N	0.000448	T	0.28532	0.0706	N	0.17631	0.505	0.80722	D	1	B;B;B	0.30914	0.3;0.022;0.066	B;B;B	0.27262	0.078;0.01;0.018	T	0.01993	-1.1233	10	0.17369	T	0.5	-21.4316	16.7071	0.85375	0.0:0.9304:0.0:0.0696	.	30;30;30	B7Z6U2;F5H2S1;Q16816	.;.;PHKG1_HUMAN	I	30	ENSP00000445440:V30I;ENSP00000297373:V30I	ENSP00000297373:V30I	V	-	1	0	PHKG1	56122959	0.999000	0.42202	0.845000	0.33349	0.884000	0.51177	4.062000	0.57492	0.790000	0.33803	-1.119000	0.02030	GTT		0.642	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		T	56155465	C	T	56155465	3	4	107	1	0	0	0	0	1	0	0	0	11848	536	19	1	1107	1	PHKG1	7	56155465	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10		56155465	102983198	27	6708											
MLXIPL	51085	hgsc.bcm.edu	37	7	73020298	73020298	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr7:73020298G>C	ENST00000313375.3	-	6	809	c.762C>G	c.(760-762)gaC>gaG	p.D254E	MLXIPL_ENST00000429400.2_Missense_Mutation_p.D254E|MLXIPL_ENST00000354613.1_Missense_Mutation_p.D254E|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000414749.2_Missense_Mutation_p.D254E|MLXIPL_ENST00000434326.1_Intron	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	254					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAAGAGAGTGTCTGAGATGT	0.632																																																0													38	36	37					7																	73020298		2200	4300	6500	SO:0001583	missense	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.762C>G	7.37:g.73020298G>C	ENSP00000320886:p.Asp254Glu		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966625	0.34659	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000456640	T;T;T;T;T	0.59364	0.82;0.91;0.81;0.92;0.27	3.62	1.78	0.24846	.	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.61697	0.984;0.99;0.99;0.99	D;D;D;D	0.72625	0.952;0.978;0.978;0.978	T	0.67476	-0.5661	10	0.87932	D	0	-20.3088	5.6467	0.17594	0.259:0.0:0.741:0.0	.	254;254;254;254	Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	MLXPL_HUMAN;.;.;.	E	254;254;254;254;216	ENSP00000412330:D254E;ENSP00000406296:D254E;ENSP00000320886:D254E;ENSP00000346629:D254E;ENSP00000402615:D216E	ENSP00000320886:D254E	D	-	3	2	MLXIPL	72658234	1.000000	0.71417	0.759000	0.31340	0.652000	0.38707	2.077000	0.41557	0.229000	0.21039	0.313000	0.20887	GAC		0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		C	73020298	G	C	73020298	3	2	107	1	0	0	0	0	1	0	0	0	9639	1368	48	4	1844	4	MLXIPL	7	73020298	Missense_Mutation	SNP	G	TCGA-AK-3454-01A-02D-1361-10	16864833	73020298	86118365	28	6709											
ZNF596	169270	hgsc.bcm.edu;ucsc.edu	37	8	195934	195934	+	Missense_Mutation	SNP	C	C	T	rs188238096		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr8:195934C>T	ENST00000398612.1	+	6	1470	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	ZNF596_ENST00000308811.4_Missense_Mutation_p.H363Y|ZNF596_ENST00000320552.2_Missense_Mutation_p.H293Y	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AGAGAAACCACATGGATGTCA	0.413																																																0													87	92	90					8																	195934		2203	4300	6503	SO:0001583	missense	169270			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"Zinc fingers, C2H2-type", "-"	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.1087C>T	8.37:g.195934C>T	ENSP00000381613:p.His363Tyr		B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	CCDS5951.2	82	0.037545787545787544	29	0.05894308943089431	3	0.008287292817679558	18	0.03146853146853147	32	0.04221635883905013	.	0.434	-0.902091	0.02453	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.14144	2.53;2.53;2.53	2.53	-0.126	0.13515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00300	0.0009	N	0.00358	-1.6	0.21220	N	0.999759	B	0.06786	0.001	B	0.01281	0.0	T	0.41070	-0.9529	9	0.02654	T	1	.	5.6535	0.17631	0.0:0.3386:0.0:0.6614	.	363	Q8TC21	ZN596_HUMAN	Y	363;293;363	ENSP00000310033:H363Y;ENSP00000318719:H293Y;ENSP00000381613:H363Y	ENSP00000310033:H363Y	H	+	1	0	ZNF596	185934	0.048000	0.20356	0.995000	0.50966	0.986000	0.74619	2.679000	0.46909	-0.033000	0.13736	0.591000	0.81541	CAT		0.413	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		T	195934	C	T	195934	3	4	107	1	0	0	0	0	1	0	0	0	18031	478	17	2	1105	2	ZNF596	8	195934	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10		195934	146168088	29	6710											
EGR3	1960	hgsc.bcm.edu	37	8	22550417	22550417	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr8:22550417C>T	ENST00000317216.2	-	1	398	c.41G>A	c.(40-42)aGc>aAc	p.S14N	EGR3_ENST00000524088.1_5'Flank|EGR3_ENST00000519492.1_Missense_Mutation_p.S14N|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_5'Flank	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	14					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TAGCAAACTGCTCATGGTCAC	0.637																																																0													78	71	73					8																	22550417		2203	4300	6503	SO:0001583	missense	1960			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"Zinc fingers, C2H2-type"	3240	protein-coding gene	gene with protein product	"zinc finger protein pilot"	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.41G>A	8.37:g.22550417C>T	ENSP00000318057:p.Ser14Asn		A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692286	0.48202	.	.	ENSG00000179388	ENST00000317216;ENST00000519492	T	0.10477	2.87	4.48	3.57	0.40892	.	0.104854	0.64402	D	0.000007	T	0.07638	0.0192	L	0.27053	0.805	0.43480	D	0.995705	B	0.13594	0.008	B	0.09377	0.004	T	0.16158	-1.0412	10	0.54805	T	0.06	-12.8844	7.6743	0.28476	0.1871:0.6317:0.1812:0.0	.	14	Q06889	EGR3_HUMAN	N	14	ENSP00000318057:S14N	ENSP00000318057:S14N	S	-	2	0	EGR3	22606362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.837000	0.55820	1.201000	0.43203	0.484000	0.47621	AGC		0.637	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		T	22550417	C	T	22550417	3	4	107	1	0	0	0	0	1	0	0	0	4975	797	28	2	1130	2	EGR3	8	22550417	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10	22354483	22550417	123813605	30	6711											
RBPMS	11030	hgsc.bcm.edu;ucsc.edu	37	8	30361883	30361883	+	Silent	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr8:30361883A>G	ENST00000320203.4	+	5	909	c.327A>G	c.(325-327)aaA>aaG	p.K109K	RBPMS_ENST00000339877.4_Silent_p.K109K|RBPMS_ENST00000520161.1_Silent_p.K5K|RBPMS_ENST00000519647.1_Silent_p.K5K|RBPMS_ENST00000520191.1_Silent_p.K5K|RBPMS_ENST00000538486.1_Silent_p.K109K|RBPMS_ENST00000517860.1_Silent_p.K109K|RBPMS_ENST00000397323.4_Silent_p.K109K|RBPMS_ENST00000287771.5_Silent_p.K109K	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	109					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		CCAAGAACAAACTCGTAGGGA	0.458																																																0													165	141	149					8																	30361883		2203	4300	6503	SO:0001819	synonymous_variant	11030			D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"RNA binding motif (RRM) containing"	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.327A>G	8.37:g.30361883A>G			D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	CCDS6077.1																																																																																				0.458	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			G	30361883	A	G	30361883	2	3	107	1	0	0	0	0	0	0	0	1	13169	40	2	3		3	RBPMS	8	30361883	Silent	SNP	A	TCGA-AK-3454-01A-02D-1361-10	7811466	30361883	116002139	31	6712											
BICD2	23299	hgsc.bcm.edu	37	9	95481408	95481408	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr9:95481408T>C	ENST00000375512.3	-	5	1586	c.1519A>G	c.(1519-1521)Aag>Gag	p.K507E	BICD2_ENST00000356884.6_Missense_Mutation_p.K507E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	507					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCACCTTCTTTAGCTCCTTC	0.637																																																0													66	61	63					9																	95481408		2203	4300	6503	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1519A>G	9.37:g.95481408T>C	ENSP00000364662:p.Lys507Glu		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401195	0.42613	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.44083	0.93;0.93	5.39	5.39	0.77823	.	0.111100	0.64402	D	0.000012	T	0.34395	0.0896	L	0.47716	1.5	0.34054	D	0.656538	P;P	0.39782	0.688;0.533	B;B	0.36719	0.231;0.183	T	0.46830	-0.9163	10	0.16420	T	0.52	-51.8108	13.6524	0.62318	0.0:0.0:0.0:1.0	.	507;507	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	E	507	ENSP00000349351:K507E;ENSP00000364662:K507E	ENSP00000349351:K507E	K	-	1	0	BICD2	94521229	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	3.329000	0.52060	2.185000	0.69588	0.459000	0.35465	AAG		0.637	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		C	95481408	T	C	95481408	3	2	107	1	0	0	0	0	1	0	0	0	1429	1850	64	3	1070	3	BICD2	9	95481408	Missense_Mutation	SNP	T	TCGA-AK-3454-01A-02D-1361-10		95481408	45732023	32	6713											
ASS1	445	hgsc.bcm.edu;ucsc.edu	37	9	133339550	133339550	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr9:133339550T>C	ENST00000372394.1	+	6	897	c.416T>C	c.(415-417)aTa>aCa	p.I139T	ASS1_ENST00000372393.3_Missense_Mutation_p.I139T|ASS1_ENST00000352480.5_Missense_Mutation_p.I139T			P00966	ASSY_HUMAN	argininosuccinate synthase 1	139					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GCCCCCCAGATAAAGGTAGGA	0.592																																																0													96	79	85					9																	133339550		2203	4300	6503	SO:0001583	missense	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.416T>C	9.37:g.133339550T>C	ENSP00000361471:p.Ile139Thr		Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.460155	0.63401	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000422569	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	4.51	4.51	0.55191	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.109085	0.43579	U	0.000548	D	0.99074	0.9682	M	0.90595	3.13	0.43076	D	0.994725	P;P	0.39071	0.658;0.658	P;P	0.57009	0.811;0.811	D	0.99887	1.1125	10	0.87932	D	0	.	11.599	0.50990	0.0:0.0:0.0:1.0	.	139;139	A8KAP9;P00966	.;ASSY_HUMAN	T	139	ENSP00000253004:I139T;ENSP00000361471:I139T;ENSP00000361469:I139T;ENSP00000394212:I139T	ENSP00000361470:I139T	I	+	2	0	ASS1	132329371	1.000000	0.71417	0.998000	0.56505	0.627000	0.37826	6.654000	0.74387	1.680000	0.50976	0.459000	0.35465	ATA		0.592	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		C	133339550	T	C	133339550	3	2	107	1	0	0	0	0	1	0	0	0	1061	1406	49	3	430	3	ASS1	9	133339550	Missense_Mutation	SNP	T	TCGA-AK-3454-01A-02D-1361-10	37858142	133339550	7873881	33	6714											
HK1	3098	hgsc.bcm.edu	37	10	71146158	71146158	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr10:71146158C>G	ENST00000359426.6	+	13	2023	c.1919C>G	c.(1918-1920)gCg>gGg	p.A640G	HK1_ENST00000298649.3_Missense_Mutation_p.A639G|HK1_ENST00000448642.2_Missense_Mutation_p.A675G|HK1_ENST00000404387.2_Missense_Mutation_p.A644G|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.A628G	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	640	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTAAGGGATGCGATAAAAAGG	0.383																																																0													88	78	82					10																	71146158		2203	4300	6503	SO:0001583	missense	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1919C>G	10.37:g.71146158C>G	ENSP00000352398:p.Ala640Gly		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694266	0.48202	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03	5.72	4.76	0.60689	Hexokinase, N-terminal (1);	0.102166	0.64402	D	0.000005	D	0.97990	0.9338	M	0.77406	2.37	0.51012	D	0.999905	B;B;B;B;B;B	0.25772	0.134;0.063;0.013;0.028;0.013;0.073	B;B;B;B;B;B	0.34346	0.18;0.156;0.061;0.101;0.095;0.113	D	0.97250	0.9897	10	0.62326	D	0.03	-26.0083	13.4214	0.61001	0.0:0.6789:0.3211:0.0	.	640;640;639;675;644;628	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	G	628;675;644;639;640;640	ENSP00000353433:A628G;ENSP00000402103:A675G;ENSP00000384774:A644G;ENSP00000298649:A639G;ENSP00000352398:A640G	ENSP00000298649:A639G	A	+	2	0	HK1	70816164	0.897000	0.30589	0.162000	0.22713	0.898000	0.52572	1.388000	0.34442	2.694000	0.91930	0.655000	0.94253	GCG		0.383	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		G	71146158	C	G	71146158	3	3	107	1	0	0	0	0	1	0	0	0	7192	768	27	4	2147	4	HK1	10	71146158	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10		71146158	64388589	34	6715											
SLC22A6	9356	hgsc.bcm.edu;ucsc.edu	37	11	62751128	62751128	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr11:62751128A>G	ENST00000377871.3	-	3	775	c.509T>C	c.(508-510)cTg>cCg	p.L170P	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L170P|SLC22A6_ENST00000458333.2_Missense_Mutation_p.L170P|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L170P	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	170					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	AGCTGTCTGCAGGTAGTTCAA	0.632																																																0													64	57	59					11																	62751128		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.509T>C	11.37:g.62751128A>G	ENSP00000367102:p.Leu170Pro		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614439	0.87359	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.079394	0.52532	D	0.000070	D	0.91496	0.7315	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.997	D	0.93817	0.7115	10	0.87932	D	0	.	13.6199	0.62130	1.0:0.0:0.0:0.0	.	170;170;170;170	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	P	170;149;170;170;170	ENSP00000353597:L170P;ENSP00000367102:L170P;ENSP00000396401:L170P;ENSP00000404441:L170P	ENSP00000353597:L170P	L	-	2	0	SLC22A6	62507704	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.767000	0.74975	2.086000	0.62901	0.528000	0.53228	CTG		0.632	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		G	62751128	A	G	62751128	3	3	107	1	0	0	0	0	1	0	0	0	14464	188	7	3	1214	3	SLC22A6	11	62751128	Missense_Mutation	SNP	A	TCGA-AK-3454-01A-02D-1361-10		62751128	72255388	35	6716											
PTPN6	5777	hgsc.bcm.edu	37	12	7061265	7061265	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr12:7061265G>A	ENST00000318974.9	+	3	495	c.251G>A	c.(250-252)gGt>gAt	p.G84D	PTPN6_ENST00000456013.1_Missense_Mutation_p.G84D|PTPN6_ENST00000399448.1_Missense_Mutation_p.G86D|PTPN6_ENST00000447931.2_Missense_Mutation_p.G45D	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	84	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CAGCAGCAGGGTGTCCTGCAG	0.572																																																0													108	128	121					12																	7061265		2199	4299	6498	SO:0001583	missense	5777				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.251G>A	12.37:g.7061265G>A	ENSP00000326010:p.Gly84Asp		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605078	0.66445	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	D;D;D;D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	4.68	2.74	0.32292	SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.91713	0.7380	N	0.17379	0.485	0.54753	D	0.999989	P;P;P;B;P	0.49358	0.756;0.923;0.679;0.349;0.773	B;P;B;B;B	0.48795	0.345;0.59;0.353;0.192;0.28	D	0.87407	0.2373	10	0.42905	T	0.14	.	4.8345	0.13458	0.08:0.1509:0.6125:0.1566	.	72;45;84;84;86	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	D	105;86;45;84;84;84;84;84;43	ENSP00000443393:G105D;ENSP00000382376:G86D;ENSP00000415979:G45D;ENSP00000438740:G84D;ENSP00000326010:G84D;ENSP00000391592:G84D;ENSP00000444337:G84D;ENSP00000445646:G84D;ENSP00000440114:G43D	ENSP00000326010:G84D	G	+	2	0	PTPN6	6931526	1.000000	0.71417	0.424000	0.26647	0.758000	0.43043	5.724000	0.68500	0.346000	0.23899	0.561000	0.74099	GGT		0.572	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		A	7061265	G	A	7061265	3	1	107	1	0	0	0	0	1	0	0	0	12798	1261	44	2	279	2	PTPN6	12	7061265	Missense_Mutation	SNP	G	TCGA-AK-3454-01A-02D-1361-10		7061265	126790630	36	6717											
PARP4	143	hgsc.bcm.edu	37	13	25044068	25044068	+	Silent	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr13:25044068G>A	ENST00000381989.3	-	16	2115	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	670	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGAAGGCTTCGAAGCCACACA	0.458																																																0													90	69	76					13																	25044068		2203	4300	6503	SO:0001819	synonymous_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2010C>T	13.37:g.25044068G>A			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	CCDS9307.1																																																																																				0.458	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		A	25044068	G	A	25044068	2	1	107	1	0	0	0	0	0	0	0	1	11465	1049	37	1		1	PARP4	13	25044068	Silent	SNP	G	TCGA-AK-3454-01A-02D-1361-10		25044068	90125810	37	6718											
PCNX	22990	hgsc.bcm.edu;ucsc.edu	37	14	71444859	71444859	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr14:71444859C>G	ENST00000304743.2	+	6	2251	c.1805C>G	c.(1804-1806)tCt>tGt	p.S602C	PCNX_ENST00000439984.3_Missense_Mutation_p.S602C|PCNX_ENST00000238570.5_Missense_Mutation_p.S602C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	602	Ser-rich.					integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GACGAAGACTCTAGTGATCAG	0.458																																																0													108	99	102					14																	71444859		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1805C>G	14.37:g.71444859C>G	ENSP00000304192:p.Ser602Cys		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788422	0.31685	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.01152	5.26;5.26;5.26	5.87	5.87	0.94306	.	0.191244	0.45867	D	0.000326	T	0.06600	0.0169	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.993;0.993;0.999	T	0.07102	-1.0790	10	0.72032	D	0.01	.	20.207	0.98280	0.0:1.0:0.0:0.0	.	602;602;602	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	C	602	ENSP00000304192:S602C;ENSP00000238570:S602C;ENSP00000396617:S602C	ENSP00000238570:S602C	S	+	2	0	PCNX	70514612	1.000000	0.71417	0.983000	0.44433	0.098000	0.18820	5.595000	0.67563	2.779000	0.95612	0.655000	0.94253	TCT		0.458	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		G	71444859	C	G	71444859	3	3	107	1	0	0	0	0	1	0	0	0	11593	913	32	4	1827	4	PCNX	14	71444859	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10		71444859	35904681	38	6719											
WARS	7453	hgsc.bcm.edu	37	14	100801317	100801317	+	Silent	SNP	A	A	C	rs201020165		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr14:100801317A>C	ENST00000355338.2	-	11	1929	c.1311T>G	c.(1309-1311)gtT>gtG	p.V437V	WARS_ENST00000556645.1_Silent_p.V396V|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000344102.5_Silent_p.V396V|WARS_ENST00000557135.1_Silent_p.V437V|WARS_ENST00000392882.2_Silent_p.V437V|WARS_ENST00000358655.4_Silent_p.V396V	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	437					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	AGGGCTGCAGAACCTCTATGA	0.582																																																0													118	96	103					14																	100801317		2203	4300	6503	SO:0001819	synonymous_variant	7453			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1311T>G	14.37:g.100801317A>C			A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Silent	SNP	ENST00000355338.2	37	CCDS9960.1																																																																																				0.582	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		C	100801317	A	C	100801317	2	2	107	1	0	0	0	0	0	0	0	1	17254	233	9	5		5	WARS	14	100801317	Silent	SNP	A	TCGA-AK-3454-01A-02D-1361-10	29356458	100801317	6548223	39	6720											
AHNAK2	113146	hgsc.bcm.edu	37	14	105415748	105415748	+	Missense_Mutation	SNP	G	G	A	rs118171013	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr14:105415748G>A	ENST00000333244.5	-	7	6159	c.6040C>T	c.(6040-6042)Cct>Tct	p.P2014S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2014						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGGGTGCAGGCACATCCACC	0.597													.|||	1504	0.300319	0.1377	0.3631	5008	,	,		15992	0.0903		0.5447	False		,,,				2504	0.4407															0								A	SER/PRO	806,3058		129,548,1255	138	119	125		6040	-7.4	0	14	dbSNP_132	125	4479,3641		1443,1593,1024	no	missense	AHNAK2	NM_138420.2	74	1572,2141,2279	AA,AG,GG		44.8399,20.8592,44.1005	benign	2014/5796	105415748	5285,6699	1932	4060	5992	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6040C>T	14.37:g.105415748G>A	ENSP00000353114:p.Pro2014Ser		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	657	0.3008241758241758	79	0.16056910569105692	137	0.3784530386740331	35	0.06118881118881119	406	0.5356200527704486	-	0.114	-1.134216	0.01742	0.208592	0.551601	ENSG00000185567	ENST00000333244	T	0.04015	3.73	3.72	-7.44	0.01379	.	.	.	.	.	T	0.00012	0.0000	N	0.00019	-2.785	0.80722	P	0.0	B	0.09022	0.002	B	0.01281	0.0	T	0.49818	-0.8899	8	0.06891	T	0.86	-0.9503	1.4552	0.02383	0.2249:0.2846:0.3034:0.1871	.	2014	Q8IVF2	AHNK2_HUMAN	S	2014	ENSP00000353114:P2014S	ENSP00000353114:P2014S	P	-	1	0	AHNAK2	104486793	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.592000	0.00421	-1.485000	0.01854	-2.164000	0.00325	CCT		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105415748	G	A	105415748	3	1	107	1	0	0	0	0	1	0	0	0	415	1203	42	2	11351	2	AHNAK2	14	105415748	Missense_Mutation	SNP	G	TCGA-AK-3454-01A-02D-1361-10	4614431	105415748	1933792	40	6721											
ANPEP	290	hgsc.bcm.edu	37	15	90342493	90342493	+	Silent	SNP	G	G	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr15:90342493G>C	ENST00000300060.6	-	14	2320	c.2007C>G	c.(2005-2007)gcC>gcG	p.A669A	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	669	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCACTCACCTGGCCAGGTTGA	0.582																																					NSCLC(30;827 977 2459 19669 26125)											0													112	97	102					15																	90342493		2200	4299	6499	SO:0001819	synonymous_variant	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2007C>G	15.37:g.90342493G>C			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	CCDS10356.1																																																																																				0.582	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			C	90342493	G	C	90342493	2	2	107	1	0	0	0	0	0	0	0	1	710	1335	47	4		4	ANPEP	15	90342493	Silent	SNP	G	TCGA-AK-3454-01A-02D-1361-10		90342493	12188899	41	6722											
ACSM2B	348158	hgsc.bcm.edu	37	16	20570686	20570686	+	Silent	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr16:20570686A>G	ENST00000329697.6	-	3	429	c.261T>C	c.(259-261)agT>agC	p.S87S	ACSM2B_ENST00000414188.2_Silent_p.S87S|ACSM2B_ENST00000565322.1_Silent_p.S8S|ACSM2B_ENST00000567001.1_Silent_p.S87S|ACSM2B_ENST00000565232.1_Silent_p.S87S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	87					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGCTGTTTTCACTCAGTTCTC	0.587																																																0													40	33	35					16																	20570686		2199	4284	6483	SO:0001819	synonymous_variant	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.261T>C	16.37:g.20570686A>G			Q86YT1	Silent	SNP	ENST00000329697.6	37	CCDS10586.1																																																																																				0.587	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		G	20570686	A	G	20570686	2	3	107	1	0	0	0	0	0	0	0	1	184	156	6	3		3	ACSM2B	16	20570686	Silent	SNP	A	TCGA-AK-3454-01A-02D-1361-10		20570686	69784067	42	6723											
WWP2	11060	hgsc.bcm.edu	37	16	69964089	69964089	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr16:69964089G>C	ENST00000359154.2	+	13	1474	c.1373G>C	c.(1372-1374)gGg>gCg	p.G458A	WWP2_ENST00000542271.1_Missense_Mutation_p.G342A|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.G458A|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000568684.1_Missense_Mutation_p.G19A|WWP2_ENST00000356003.2_Missense_Mutation_p.G458A	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	458	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAGCGAGGGGGTGCGATAC	0.572											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													70	68	69					16																	69964089		2198	4300	6498	SO:0001583	missense	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1373G>C	16.37:g.69964089G>C	ENSP00000352069:p.Gly458Ala	1118	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495510	0.85069	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	5.52	5.52	0.82312	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.98194	0.9403	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99063	1.0831	9	.	.	.	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	458	O00308	WWP2_HUMAN	A	458;19;458;458;345;342	ENSP00000352069:G458A;ENSP00000396871:G458A;ENSP00000348283:G458A;ENSP00000445616:G342A	.	G	+	2	0	WWP2	68521590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.597000	0.87782	0.655000	0.94253	GGG		0.572	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		C	69964089	G	C	69964089	3	2	107	1	0	0	0	0	1	0	0	0	17421	1232	43	4	1423	4	WWP2	16	69964089	Missense_Mutation	SNP	G	TCGA-AK-3454-01A-02D-1361-10	49393403	69964089	20390664	43	6724											
ITGAE	3682	hgsc.bcm.edu;ucsc.edu	37	17	3663516	3663516	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr17:3663516T>C	ENST00000263087.4	-	7	762	c.664A>G	c.(664-666)Aaa>Gaa	p.K222E		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	222	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ATGAAGTCTTTGGCTCTCTGA	0.488																																					NSCLC(182;635 2928 8995 38788)											0													115	95	102					17																	3663516		2203	4300	6503	SO:0001583	missense	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.664A>G	17.37:g.3663516T>C	ENSP00000263087:p.Lys222Glu		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749310	0.89753	.	.	ENSG00000083457	ENST00000263087	D	0.87887	-2.31	5.54	5.54	0.83059	von Willebrand factor, type A (3);	.	.	.	.	D	0.93693	0.7985	M	0.90977	3.165	0.45216	D	0.998223	D	0.56746	0.977	P	0.59703	0.862	D	0.94712	0.7893	9	0.66056	D	0.02	.	13.9829	0.64315	0.0:0.0:0.0:1.0	.	222	P38570	ITAE_HUMAN	E	222	ENSP00000263087:K222E	ENSP00000263087:K222E	K	-	1	0	ITGAE	3610265	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.099000	0.57755	2.254000	0.74563	0.491000	0.48974	AAA		0.488	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		C	3663516	T	C	3663516	3	2	107	1	0	0	0	0	1	0	0	0	7887	1821	63	3	2975	3	ITGAE	17	3663516	Missense_Mutation	SNP	T	TCGA-AK-3454-01A-02D-1361-10		3663516	77531694	44	6725											
EIF5A	1984	hgsc.bcm.edu;ucsc.edu	37	17	7213099	7213099	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr17:7213099G>T	ENST00000336458.8	+	2	546	c.145G>T	c.(145-147)Ggc>Tgc	p.G49C	EIF5A_ENST00000336452.7_Missense_Mutation_p.G79C|EIF5A_ENST00000573542.1_Missense_Mutation_p.G49C|EIF5A_ENST00000572815.1_Missense_Mutation_p.G49C|EIF5A_ENST00000416016.2_Missense_Mutation_p.G49C|EIF5A_ENST00000419711.2_Missense_Mutation_p.G49C|EIF5A_ENST00000571955.1_Missense_Mutation_p.G49C|EIF5A_ENST00000576930.1_Missense_Mutation_p.G49C	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	49	DOHH-binding.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						TTCGAAGACTGGCAAGCACGG	0.542																																																0													151	133	139					17																	7213099		2203	4300	6503	SO:0001583	missense	1984				CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.145G>T	17.37:g.7213099G>T	ENSP00000336776:p.Gly49Cys		A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797387	0.90538	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	4.55	4.55	0.56014	KOW (1);Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	0.000000	0.64402	D	0.000002	D	0.89643	0.6774	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93370	0.6734	10	0.87932	D	0	0.1328	16.2348	0.82365	0.0:0.0:1.0:0.0	.	49;79	P63241;P63241-2	IF5A1_HUMAN;.	C	79;49;49;49	ENSP00000336702:G79C;ENSP00000336776:G49C;ENSP00000390677:G49C;ENSP00000396073:G49C	ENSP00000336702:G79C	G	+	1	0	EIF5A	7153823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.972000	0.93424	2.380000	0.81148	0.505000	0.49811	GGC		0.542	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		T	7213099	G	T	7213099	3	4	107	1	0	0	0	0	1	0	0	0	5043	1348	47	4	241	4	EIF5A	17	7213099	Missense_Mutation	SNP	G	TCGA-AK-3454-01A-02D-1361-10	3549583	7213099	73982111	45	6726											
KDM6B	23135	hgsc.bcm.edu	37	17	7753474	7753474	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr17:7753474C>A	ENST00000448097.2	+	13	3983	c.3652C>A	c.(3652-3654)Ctg>Atg	p.L1218M	KDM6B_ENST00000254846.5_Missense_Mutation_p.L1218M			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1218					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GATCCGGGGCCTGGCGGGCTC	0.587																																																0													40	37	38					17																	7753474		2202	4300	6502	SO:0001583	missense	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3652C>A	17.37:g.7753474C>A	ENSP00000412513:p.Leu1218Met		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	C	13.61	2.287918	0.40494	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.80123	-1.34;-1.34	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000003	D	0.85894	0.5803	L	0.58969	1.84	0.50632	D	0.999885	P;D	0.89917	0.936;1.0	P;D	0.91635	0.903;0.999	D	0.85925	0.1448	10	0.66056	D	0.02	-9.0651	8.6683	0.34134	0.0:0.8366:0.0:0.1634	.	1218;1218	O15054;O15054-1	KDM6B_HUMAN;.	M	1218	ENSP00000254846:L1218M;ENSP00000412513:L1218M	ENSP00000254846:L1218M	L	+	1	2	KDM6B	7694199	0.957000	0.32711	1.000000	0.80357	0.870000	0.49936	1.868000	0.39509	2.717000	0.92951	0.650000	0.86243	CTG		0.587	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		A	7753474	C	A	7753474	3	1	107	1	0	0	0	0	1	0	0	0	8140	680	24	4	3690	4	KDM6B	17	7753474	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10	540375	7753474	73441736	46	6727											
SSH2	85464	hgsc.bcm.edu;ucsc.edu	37	17	28022502	28022502	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr17:28022502A>T	ENST00000269033.3	-	4	402	c.251T>A	c.(250-252)cTc>cAc	p.L84H	SSH2_ENST00000540801.1_Missense_Mutation_p.L111H|SSH2_ENST00000324677.7_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	84					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCTGGGCGGAGTAAAATGAA	0.373																																																0													183	151	162					17																	28022502		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.251T>A	17.37:g.28022502A>T	ENSP00000269033:p.Leu84His		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.160470	0.38119	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848;ENST00000324677	T;T	0.38560	1.13;1.13	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;0.998;0.999;0.999	T	0.74343	-0.3696	10	0.87932	D	0	-12.1796	14.5917	0.68371	1.0:0.0:0.0:0.0	.	111;84;91;84;84	F5H527;Q76I76-3;G5E957;Q76I76-4;Q76I76	.;.;.;.;SSH2_HUMAN	H	84;111;84;91	ENSP00000269033:L84H;ENSP00000444743:L111H	ENSP00000269033:L84H	L	-	2	0	SSH2	25046628	1.000000	0.71417	0.998000	0.56505	0.632000	0.37999	8.290000	0.89925	2.083000	0.62718	0.528000	0.53228	CTC		0.373	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		T	28022502	A	T	28022502	3	4	107	1	0	0	0	0	1	0	0	0	15190	304	11	5	4068	5	SSH2	17	28022502	Missense_Mutation	SNP	A	TCGA-AK-3454-01A-02D-1361-10	20269028	28022502	53172708	47	6728											
C17orf82	388407	hgsc.bcm.edu	37	17	59489427	59489427	+	Missense_Mutation	SNP	A	A	C	rs374263023		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr17:59489427A>C	ENST00000335108.2	+	1	316	c.91A>C	c.(91-93)Agt>Cgt	p.S31R	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	31										cervix(1)|lung(1)	2						CCCAAAATCCAGTCCCGCTTC	0.667											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													33	37	35					17																	59489427		2202	4300	6502	SO:0001583	missense	388407			BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.91A>C	17.37:g.59489427A>C	ENSP00000335229:p.Ser31Arg	1038		Missense_Mutation	SNP	ENST00000335108.2	37	CCDS11628.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.855747	0.51376	.	.	ENSG00000187013	ENST00000335108	T	0.54675	0.56	3.58	-0.0235	0.13943	.	.	.	.	.	T	0.27866	0.0686	N	0.08118	0	0.09310	N	1	P	0.39003	0.654	B	0.38225	0.268	T	0.16512	-1.0400	9	0.87932	D	0	.	3.1581	0.06511	0.5381:0.2193:0.2426:0.0	.	31	Q86X59	CQ082_HUMAN	R	31	ENSP00000335229:S31R	ENSP00000335229:S31R	S	+	1	0	C17orf82	56844209	0.000000	0.05858	0.021000	0.16686	0.561000	0.35649	0.528000	0.23002	-0.040000	0.13580	0.379000	0.24179	AGT		0.667	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449646.1	NM_203425		C	59489427	A	C	59489427	3	2	107	1	0	0	0	0	1	0	0	0	1889	188	7	5	93	5	C17orf82	17	59489427	Missense_Mutation	SNP	A	TCGA-AK-3454-01A-02D-1361-10	31466925	59489427	21705783	48	6729											
ZNF121	7675	hgsc.bcm.edu;ucsc.edu	37	19	9676687	9676687	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr19:9676687A>T	ENST00000586602.1	-	6	1518	c.1102T>A	c.(1102-1104)Tat>Aat	p.Y368N	ZNF121_ENST00000320451.6_Missense_Mutation_p.Y368N			P58317	ZN121_HUMAN	zinc finger protein 121	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TTACATATATAGGGTTTCTCT	0.353																																																0													57	57	57					19																	9676687		2203	4300	6503	SO:0001583	missense	7675			M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"Zinc fingers, C2H2-type"	12904	protein-coding gene	gene with protein product		194628	"zinc finger protein 121 (clone ZHC32)"	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.1102T>A	19.37:g.9676687A>T	ENSP00000468643:p.Tyr368Asn			Missense_Mutation	SNP	ENST00000586602.1	37		.	.	.	.	.	.	.	.	.	.	A	12.78	2.040799	0.35989	.	.	ENSG00000197961	ENST00000320451	T	0.25749	1.78	1.3	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58337	0.2115	H	0.96208	3.785	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.44452	-0.9327	9	0.87932	D	0	.	6.6906	0.23169	1.0:0.0:0.0:0.0	.	368	P58317	ZN121_HUMAN	N	368	ENSP00000326967:Y368N	ENSP00000326967:Y368N	Y	-	1	0	ZNF121	9537687	0.002000	0.14202	0.123000	0.21794	0.254000	0.26022	1.830000	0.39131	0.853000	0.35312	0.402000	0.26972	TAT		0.353	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		T	9676687	A	T	9676687	3	4	107	1	0	0	0	0	1	0	0	0	17724	420	15	5	74	5	ZNF121	19	9676687	Missense_Mutation	SNP	A	TCGA-AK-3454-01A-02D-1361-10		9676687	49452296	49	6730											
LPPR2	64748	hgsc.bcm.edu	37	19	11473235	11473235	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr19:11473235A>G	ENST00000251473.5	+	7	1086	c.710A>G	c.(709-711)aAa>aGa	p.K237R	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.K212R	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CGCCTGGTCAAACCCTCGCTC	0.667																																																0													101	85	90					19																	11473235		2203	4300	6503	SO:0001583	missense	64748																														ENST00000251473.5:c.710A>G	19.37:g.11473235A>G	ENSP00000251473:p.Lys237Arg			Missense_Mutation	SNP	ENST00000251473.5	37	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	A	35	5.447402	0.96205	.	.	ENSG00000105520	ENST00000251473	T	0.32753	1.44	5.23	5.23	0.72850	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	L	0.42581	1.335	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.20207	-1.0282	10	0.13108	T	0.6	-10.3906	14.1048	0.65080	1.0:0.0:0.0:0.0	.	212;237	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	R	237	ENSP00000251473:K237R	ENSP00000251473:K237R	K	+	2	0	AC024575.1	11334235	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.708000	0.74660	1.995000	0.58328	0.459000	0.35465	AAA		0.667	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			G	11473235	A	G	11473235	3	3	107	1	0	0	0	0	1	0	0	0	8927	14	1	3	728	3	LPPR2	19	11473235	Missense_Mutation	SNP	A	TCGA-AK-3454-01A-02D-1361-10	1796548	11473235	47655748	50	6731											
KLK2	3817	hgsc.bcm.edu	37	19	51378101	51378101	+	Silent	SNP	C	C	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr19:51378101C>A	ENST00000325321.3	+	2	396	c.171C>A	c.(169-171)ccC>ccA	p.P57P	KLK2_ENST00000391810.2_Intron|AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000358049.4_Silent_p.P57P|KLK2_ENST00000597509.1_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	57	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TGGTGCACCCCCAGTGGGTGC	0.587			T	ETV4	prostate																																		Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													67	56	59					19																	51378101		2203	4300	6503	SO:0001819	synonymous_variant	3817			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"Kallikreins"	6363	protein-coding gene	gene with protein product		147960	"kallikrein 2, prostatic"			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.171C>A	19.37:g.51378101C>A			B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Silent	SNP	ENST00000325321.3	37	CCDS12808.1																																																																																				0.587	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		A	51378101	C	A	51378101	2	1	107	1	0	0	0	0	0	0	0	1	8406	610	22	4		4	KLK2	19	51378101	Silent	SNP	C	TCGA-AK-3454-01A-02D-1361-10	39904866	51378101	7750882	51	6732											
ZNF417	147687	hgsc.bcm.edu	37	19	58421128	58421128	+	Missense_Mutation	SNP	C	C	T	rs201944488	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr19:58421128C>T	ENST00000312026.5	-	3	682	c.518G>A	c.(517-519)cGc>cAc	p.R173H	ZNF417_ENST00000595559.1_Missense_Mutation_p.R172H|ZNF417_ENST00000536263.1_5'UTR|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	173				R -> H (in Ref. 3; AAH25783). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CCCAAACTCGCGGAAGACAAA	0.478													c|||	1646	0.328674	0.2496	0.3069	5008	,	,		19752	0.3631		0.3708	False		,,,				2504	0.3722															0								C	HIS/ARG	938,2814		296,346,1234	50	52	51		518	-3.3	0	19	dbSNP_134	51	3014,4976		1034,946,2015	no	missense	ZNF417	NM_152475.2	29	1330,1292,3249	TT,TC,CC		37.7222,25.0,33.657	benign	173/576	58421128	3952,7790	1876	3995	5871	SO:0001583	missense	147687			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.518G>A	19.37:g.58421128C>T	ENSP00000311319:p.Arg173His		B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	CCDS12965.1	554	0.25366300366300365	111	0.22560975609756098	90	0.24861878453038674	138	0.24125874125874125	215	0.2836411609498681	.	0.284	-0.984691	0.02180	0.25	0.377222	ENSG00000173480	ENST00000312026	T	0.06294	3.32	1.86	-3.31	0.04988	.	.	.	.	.	T	0.00012	0.0000	N	0.16201	0.385	0.53688	P	2.999999999997449E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47086	-0.9144	8	0.41790	T	0.15	.	7.2829	0.26322	0.0:0.4727:0.0:0.5273	.	173;173	F5H0M9;Q8TAU3	.;ZN417_HUMAN	H	173	ENSP00000311319:R173H	ENSP00000311319:R173H	R	-	2	0	ZNF417	63112940	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.558000	0.05978	-0.695000	0.05105	-2.164000	0.00325	CGC		0.478	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		T	58421128	C	T	58421128	3	4	107	1	0	0	0	0	1	0	0	0	17899	768	27	1	1213	1	ZNF417	19	58421128	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10	7043027	58421128	707855	52	6733											
FAM83C	128876	hgsc.bcm.edu;ucsc.edu	37	20	33875700	33875700	+	Silent	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr20:33875700G>A	ENST00000374408.3	-	4	978	c.882C>T	c.(880-882)gaC>gaT	p.D294D	EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	294										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGAACTCCCGGTCAAAGTCTT	0.667																																																0													36	37	37					20																	33875700		2173	4263	6436	SO:0001819	synonymous_variant	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.882C>T	20.37:g.33875700G>A			Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	CCDS13251.1																																																																																				0.667	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			A	33875700	G	A	33875700	2	1	107	1	0	0	0	0	0	0	0	1	5637	1252	44	2		2	FAM83C	20	33875700	Silent	SNP	G	TCGA-AK-3454-01A-02D-1361-10		33875700	29149820	53	6734											
AIFM3	150209	hgsc.bcm.edu;ucsc.edu	37	22	21332000	21332000	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr22:21332000G>A	ENST00000399167.2	+	15	1534	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	AIFM3_ENST00000440238.2_Missense_Mutation_p.A432T|AIFM3_ENST00000399163.2_Missense_Mutation_p.A432T|AIFM3_ENST00000335375.5_Missense_Mutation_p.A420T|AIFM3_ENST00000405089.1_Missense_Mutation_p.A438T|AIFM3_ENST00000333607.6_Missense_Mutation_p.A432T|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	432					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCAGTGCCCGCCACAGGCTT	0.617																																																0													73	68	70					22																	21332000		2203	4300	6503	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1294G>A	22.37:g.21332000G>A	ENSP00000382120:p.Ala432Thr		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	7.655	0.683783	0.14907	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.52295	0.68;0.68;0.68;0.67;0.68;0.68	4.66	4.66	0.58398	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.062488	0.64402	D	0.000006	T	0.41971	0.1182	M	0.78801	2.425	0.58432	D	0.999997	P;B;B;B;B	0.35844	0.524;0.334;0.013;0.003;0.016	B;B;B;B;B	0.31101	0.098;0.124;0.009;0.009;0.087	T	0.29150	-1.0021	10	0.13853	T	0.58	.	9.1301	0.36839	0.1025:0.0:0.8975:0.0	.	420;420;438;432;432	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	T	432;432;438;420;432;432	ENSP00000382120:A432T;ENSP00000382116:A432T;ENSP00000385800:A438T;ENSP00000335369:A420T;ENSP00000390798:A432T;ENSP00000327671:A432T	ENSP00000327671:A432T	A	+	1	0	AIFM3	19662000	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	5.834000	0.69361	2.291000	0.77112	0.460000	0.39030	GCC		0.617	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		A	21332000	G	A	21332000	3	1	107	1	0	0	0	0	1	0	0	0	428	1087	38	1	1366	1	AIFM3	22	21332000	Missense_Mutation	SNP	G	TCGA-AK-3454-01A-02D-1361-10		21332000	29972566	54	6735											
RFPL2	10739	hgsc.bcm.edu	37	22	32587023	32587023	+	Silent	SNP	C	C	G	rs55974778	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr22:32587023C>G	ENST00000400237.1	-	5	1808	c.873G>C	c.(871-873)acG>acC	p.T291T	RFPL2_ENST00000400236.3_Silent_p.T201T|RFPL2_ENST00000248983.4_Silent_p.T201T|RFPL2_ENST00000248980.4_Silent_p.T230T|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	291	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCAGCGGCACCGTGGTGGCAG	0.527													.|||	2424	0.484026	0.8631	0.3804	5008	,	,		19287	0.1498		0.493	False		,,,				2504	0.3804															0													45	68	60					22																	32587023		2203	4297	6500	SO:0001819	synonymous_variant	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.873G>C	22.37:g.32587023C>G				Silent	SNP	ENST00000400237.1	37	CCDS43009.2																																																																																				0.527	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		G	32587023	C	G	32587023	2	3	107	1	0	0	0	0	0	0	0	1	13260	639	23	4		4	RFPL2	22	32587023	Silent	SNP	C	TCGA-AK-3454-01A-02D-1361-10	11255023	32587023	18717543	55	6736											
TNRC6B	23112	hgsc.bcm.edu	37	22	40719130	40719130	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr22:40719130C>T	ENST00000454349.2	+	23	5598	c.5387C>T	c.(5386-5388)cCa>cTa	p.P1796L	TNRC6B_ENST00000402203.1_Missense_Mutation_p.P992L|TNRC6B_ENST00000335727.9_Missense_Mutation_p.P1686L|TNRC6B_ENST00000301923.9_Missense_Mutation_p.P992L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1796					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TGGGGGCCCCCAAACTATTCT	0.602																																																0													23	25	24					22																	40719130		1860	4104	5964	SO:0001583	missense	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.5387C>T	22.37:g.40719130C>T	ENSP00000401946:p.Pro1796Leu		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301159	0.81136	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.34275	1.37;1.37;2.59;2.6	5.97	5.97	0.96955	.	0.174335	0.51477	D	0.000086	T	0.60779	0.2295	M	0.62088	1.915	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.969	D;D;P	0.78314	0.991;0.944;0.821	T	0.57797	-0.7749	10	0.56958	D	0.05	-6.4168	20.4239	0.99064	0.0:1.0:0.0:0.0	.	1796;1686;992	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	L	992;992;1796;1686;1686	ENSP00000306759:P992L;ENSP00000384795:P992L;ENSP00000401946:P1796L;ENSP00000338371:P1686L	ENSP00000306759:P992L	P	+	2	0	TNRC6B	39049076	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.491000	0.60326	2.828000	0.97474	0.655000	0.94253	CCA		0.602	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				T	40719130	C	T	40719130	3	4	107	1	0	0	0	0	1	0	0	0	16346	594	21	2	5598	2	TNRC6B	22	40719130	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10	8132107	40719130	10585436	56	6737											
FRMPD4	9758	hgsc.bcm.edu	37	X	12734645	12734645	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chrX:12734645C>G	ENST00000380682.1	+	15	2573	c.2067C>G	c.(2065-2067)taC>taG	p.Y689*		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	689					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAAATCTCTACATTGGCAGTG	0.483																																																0													149	157	154					X																	12734645		2203	4300	6503	SO:0001587	stop_gained	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2067C>G	X.37:g.12734645C>G	ENSP00000370057:p.Tyr689*		A8K0X9|O15032	Nonsense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	40	8.196264	0.98701	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	.	.	.	5.86	3.15	0.36227	.	0.062060	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4814	0.38902	0.0:0.6509:0.0:0.3491	.	.	.	.	X	689;680;678	.	ENSP00000304583:Y678X	Y	+	3	2	FRMPD4	12644566	0.998000	0.40836	0.944000	0.38274	0.379000	0.30106	0.666000	0.25097	0.624000	0.30286	0.600000	0.82982	TAC		0.483	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		G	12734645	C	G	12734645	4	3	107	1	0	0	0	0	0	1	0	0	6061	489	17	4	2125	4	FRMPD4	23	12734645	Nonsense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10		12734645	142535915	57	6738											
TBC1D25	4943	hgsc.bcm.edu	37	X	48418768	48418768	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chrX:48418768C>A	ENST00000376771.4	+	6	1813	c.1472C>A	c.(1471-1473)gCc>gAc	p.A491D	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.A237D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	491					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTGGCCACAGCCAGTCAGGGG	0.642																																																0													32	35	34					X																	48418768		2203	4297	6500	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1472C>A	X.37:g.48418768C>A	ENSP00000365962:p.Ala491Asp		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	C	0.113	-1.136162	0.01742	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.14022	2.54;2.54	4.91	0.854	0.19007	Rab-GAP/TBC domain (1);	1.373420	0.05012	N	0.471154	T	0.06826	0.0174	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36768	-0.9734	10	0.22706	T	0.39	-9.1354	9.5218	0.39140	0.1381:0.4588:0.4031:0.0	.	495;433;491	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	D	491;237	ENSP00000365962:A491D;ENSP00000444091:A237D	ENSP00000365962:A491D	A	+	2	0	TBC1D25	48303712	0.000000	0.05858	0.016000	0.15963	0.147000	0.21601	0.041000	0.13927	0.460000	0.27045	0.436000	0.28706	GCC		0.642	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		A	48418768	C	A	48418768	3	1	107	1	0	0	0	0	1	0	0	0	15620	739	26	4	1494	4	TBC1D25	23	48418768	Missense_Mutation	SNP	C	TCGA-AK-3454-01A-02D-1361-10	35684123	48418768	106851792	58	6739											
RLIM	51132	hgsc.bcm.edu;ucsc.edu	37	X	73811648	73811648	+	Missense_Mutation	SNP	G	G	A	rs200629905		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chrX:73811648G>A	ENST00000332687.6	-	4	1720	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	RLIM_ENST00000349225.2_Missense_Mutation_p.S501L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	501	Poly-Ser.|Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S501L(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTGATGATGAGCTTCCTTC	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											3	Substitution - Missense(3)	prostate(2)|ovary(1)											45	38	40					X																	73811648		2203	4300	6503	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1502C>T	X.37:g.73811648G>A	ENSP00000328059:p.Ser501Leu		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	7.117	0.577275	0.13686	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08984	3.03;3.03	5.41	4.55	0.56014	.	0.666655	0.15400	N	0.264373	T	0.10121	0.0248	L	0.49126	1.545	0.38573	D	0.949983	B	0.02656	0.0	B	0.01281	0.0	T	0.08764	-1.0706	10	0.23891	T	0.37	-0.2985	13.4694	0.61273	0.0772:0.0:0.9228:0.0	.	501	Q9NVW2	RNF12_HUMAN	L	501	ENSP00000328059:S501L;ENSP00000253571:S501L	ENSP00000328059:S501L	S	-	2	0	RLIM	73728373	0.997000	0.39634	0.969000	0.41365	0.831000	0.47069	2.664000	0.46783	1.072000	0.40860	-0.192000	0.12808	TCA		0.488	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		A	73811648	G	A	73811648	3	1	107	1	0	0	0	0	1	0	0	0	13396	1294	45	2	376	2	RLIM	23	73811648	Missense_Mutation	SNP	G	TCGA-AK-3454-01A-02D-1361-10	25392880	73811648	81458912	59	6740											
NXF2	56001	hgsc.bcm.edu	37	X	101581404	101581404	+	Silent	SNP	A	A	G	rs200108909		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chrX:101581404A>G	ENST00000372758.1	+	27	2707	c.1857A>G	c.(1855-1857)gcA>gcG	p.A619A	NXF2_ENST00000372763.1_3'UTR|NXF2_ENST00000330252.5_Silent_p.A619A|NXF2_ENST00000372757.1_Silent_p.A619A|NXF2_ENST00000395088.2_Silent_p.A619A			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	619	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|lung(2)	4						AGATCCCCGCAGAGGCCTTCA	0.517																																																0													150	164	160					X																	101581404		1246	2934	4180	SO:0001819	synonymous_variant	56001			AJ277526	CCDS14497.1	Xq22.1	2011-05-25			ENSG00000185554				8072	protein-coding gene	gene with protein product	"cancer/testis antigen 39", "TAP like protein 2"	300315				11073998, 11279525	Standard	NM_022053		Approved	CT39, TAPL-2	uc004eix.4	Q9GZY0		ENST00000372758.1:c.1857A>G	X.37:g.101581404A>G			Q9BXU4|Q9NSS1|Q9NX66	Silent	SNP	ENST00000372758.1	37	CCDS14497.1																																																																																				0.517	NXF2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057618.1	NM_017809		G	101581404	A	G	101581404	2	3	107	1	0	0	0	0	0	0	0	1	10785	175	7	3		3	NXF2	23	101581404	Silent	SNP	A	TCGA-AK-3454-01A-02D-1361-10	27769756	101581404	53689156	60	6741											
FPGT	8790	broad.mit.edu;ucsc.edu	37	1	74670342	74670342	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:74670342G>A	ENST00000609362.1	+	4	648	c.611G>A	c.(610-612)gGa>gAa	p.G204E	FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.G217E|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	204					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.G204E(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACCACACATGGAGTATTTGTC	0.363																																																1	Substitution - Missense(1)	kidney(1)											104	102	103					1																	74670342		2203	4300	6503	SO:0001583	missense	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.611G>A	1.37:g.74670342G>A	ENSP00000476680:p.Gly204Glu		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390751	0.82902	.	.	ENSG00000254685	ENST00000370898	T	0.71579	-0.58	5.57	5.57	0.84162	L-fucokinase (1);	.	.	.	.	D	0.84456	0.5476	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85024	0.0913	8	.	.	.	.	19.5527	0.95328	0.0:0.0:1.0:0.0	.	204	O14772	FPGT_HUMAN	E	204	ENSP00000359935:G204E	.	G	+	2	0	TNNI3K	74442930	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.618000	0.88619	0.591000	0.81541	GGA		0.363	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	74670342	G	A	74670342	3	1	108	1	0	0	0	0	1	0	0	0	6039	1174	41	2	625	2	FPGT	1	74670342	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08		74670342	174580279	1	6742											
CASQ2	845	hgsc.bcm.edu;ucsc.edu	37	1	116243990	116243991	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:116243990_116243991insCA	ENST00000261448.5	-	11	1310_1311	c.1071_1072insTG	c.(1069-1074)gagctgfs	p.L358fs	CASQ2_ENST00000456138.2_Frame_Shift_Ins_p.L287fs	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	358	Asp/Glu-rich (acidic).				cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|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 heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CAGTCCTCCAGCTCCTCAGCAG	0.436																																																0																																										SO:0001589	frameshift_variant	845			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"Protein disulfide isomerases"	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1071_1072insTG	1.37:g.116243990_116243991insCA	ENSP00000261448:p.Leu358fs		B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Frame_Shift_Ins	INS	ENST00000261448.5	37	CCDS884.1																																																																																				0.436	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		CA	116243991	-	CA	116243990	7	5	108	1	0	1	1	0	0	0	0	0	2683	962	34	0	131	0	CASQ2	1	116243990	Frame_Shift_Ins	INS	-	TCGA-AK-3455-01A-01D-0966-08	41573648	116243990	133006631	2	6743											
PIP5K1A	8394	hgsc.bcm.edu;ucsc.edu	37	1	151209067	151209068	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:151209067_151209068delCT	ENST00000368888.4	+	9	1395_1396	c.973_974delCT	c.(973-975)ctcfs	p.L326fs	PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000409426.1_Frame_Shift_Del_p.L314fs|PIP5K1A_ENST00000368890.4_Frame_Shift_Del_p.L313fs|PIP5K1A_ENST00000441902.2_Frame_Shift_Del_p.L314fs|PIP5K1A_ENST00000414290.2_Frame_Shift_Del_p.L27fs	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	326	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGATTACAGCCTCTTGATGTCA	0.411																																					Pancreas(80;36 1443 2325 16095 21302)											0																																										SO:0001589	frameshift_variant	8394			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.973_974delCT	1.37:g.151209069_151209070delCT	ENSP00000357883:p.Leu326fs		A8K4Q0|B4DIN0|Q99754|Q99756	Frame_Shift_Del	DEL	ENST00000368888.4	37	CCDS44219.1																																																																																				0.411	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		-	151209068	CT	-	151209067	7	5	108	1	0	1	0	1	0	0	0	0	11941	681	24	0	1007	0	PIP5K1A	1	151209067	Frame_Shift_Del	DEL	CT	TCGA-AK-3455-01A-01D-0966-08	34965077	151209067	98041554	3	6744											
FAM58B	339521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200183197	200183197	+	IGR	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:200183197C>G								NR5A2 (36645 upstream) : RP11-532L16.3 (101365 downstream)																							CAGCGGACCCCCGTTGCCGTC	0.632																																																0													38	40	39					1																	200183197		2203	4300	6503	SO:0001628	intergenic_variant	0																															1.37:g.200183197C>G				Missense_Mutation	SNP		37																																																																																				0	0.632									G	200183197	C	G	200183197	1	3	108	0	1	0	0	0	0	0	0	0	5593	623	22	4		4	FAM58B	1	200183197	IGR	SNP	C	TCGA-AK-3455-01A-01D-0966-08	48974130	200183197	49067424	4	6745											
RPS6KC1	26750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	213302912	213302912	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:213302912T>C	ENST00000366960.3	+	6	665	c.515T>C	c.(514-516)gTg>gCg	p.V172A	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.V160A|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000543470.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	172					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.V172A(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACTGTTGATGTGGATTCTCTT	0.378																																																1	Substitution - Missense(1)	kidney(1)											129	131	130					1																	213302912		2203	4300	6503	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.515T>C	1.37:g.213302912T>C	ENSP00000355927:p.Val172Ala		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	T	2.077	-0.411555	0.04799	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	T;T	0.30981	1.51;1.51	5.53	2.87	0.33458	.	0.351759	0.30302	N	0.009926	T	0.12178	0.0296	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.003	T	0.10268	-1.0637	10	0.17369	T	0.5	-42.3377	4.6905	0.12778	0.0:0.2016:0.1558:0.6426	.	172;160	Q96S38;B1APS8	KS6C1_HUMAN;.	A	172;160	ENSP00000355927:V172A;ENSP00000355926:V160A	ENSP00000355926:V160A	V	+	2	0	RPS6KC1	211369535	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	0.252000	0.18278	0.735000	0.32537	0.477000	0.44152	GTG		0.378	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		C	213302912	T	C	213302912	3	2	108	1	0	0	0	0	1	0	0	0	13664	1696	59	3	537	3	RPS6KC1	1	213302912	Missense_Mutation	SNP	T	TCGA-AK-3455-01A-01D-0966-08	13119715	213302912	35947709	5	6746											
PLD5	200150	broad.mit.edu;hgsc.bcm.edu	37	1	242428747	242428747	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:242428747G>T	ENST00000536534.2	-	4	740	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	PLD5_ENST00000442594.2_Missense_Mutation_p.Q75K|PLD5_ENST00000474177.1_5'Flank|PLD5_ENST00000427495.1_Missense_Mutation_p.Q105K			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	167						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.Q75K(1)|p.Q167K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AAAAGACGTTGACCCTGGAAA	0.323																																																2	Substitution - Missense(2)	kidney(2)											40	38	39					1																	242428747		2201	4300	6501	SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.499C>A	1.37:g.242428747G>T	ENSP00000440896:p.Gln167Lys		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868527	0.51588	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.42513	2.6;2.6;2.6;0.97	5.55	5.55	0.83447	.	0.196319	0.46145	D	0.000306	T	0.32194	0.0821	L	0.29908	0.895	0.44754	D	0.997754	B;B;B	0.16802	0.019;0.011;0.004	B;B;B	0.14578	0.011;0.005;0.004	T	0.08027	-1.0742	10	0.15952	T	0.53	-8.5334	16.5937	0.84789	0.0:0.0:1.0:0.0	.	75;167;105	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	K	105;75;167;105	ENSP00000401285:Q105K;ENSP00000414188:Q75K;ENSP00000440896:Q167K;ENSP00000438191:Q105K	ENSP00000401285:Q105K	Q	-	1	0	PLD5	240495370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.292000	0.59031	2.768000	0.95171	0.655000	0.94253	CAA		0.323	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		T	242428747	G	T	242428747	3	4	108	1	0	0	0	0	1	0	0	0	12051	1299	45	4	1139	4	PLD5	1	242428747	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	29125835	242428747	6821874	6	6747											
KIDINS220	57498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	8871251	8871251	+	Missense_Mutation	SNP	T	T	C	rs376497503		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:8871251T>C	ENST00000256707.3	-	30	5096	c.4915A>G	c.(4915-4917)Att>Gtt	p.I1639V	KIDINS220_ENST00000427284.1_Missense_Mutation_p.I1620V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.I1540V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.I1620V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1639					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.I1639V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CGAGCTATAATTGGATCTTGC	0.498																																																1	Substitution - Missense(1)	kidney(1)						T	VAL/ILE	0,3894		0,0,1947	82	75	77		4915	-11.8	0	2		77	1,8265		0,1,4132	no	missense	KIDINS220	NM_020738.2	29	0,1,6079	CC,CT,TT		0.0121,0.0,0.0082	benign	1639/1772	8871251	1,12159	1947	4133	6080	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4915A>G	2.37:g.8871251T>C	ENSP00000256707:p.Ile1639Val		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	4.891	0.165609	0.09339	0.0	1.21E-4	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.64438	-0.1;-0.07;-0.03;-0.07	5.92	-11.8	0.00035	.	1.602060	0.03163	N	0.169542	T	0.31796	0.0808	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.47156	-0.9139	10	0.02654	T	1	.	16.1785	0.81885	0.0:0.5241:0.3241:0.1518	.	1540;1639;493	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	V	1639;1620;1540;1620	ENSP00000256707:I1639V;ENSP00000411849:I1620V;ENSP00000414923:I1540V;ENSP00000418974:I1620V	ENSP00000256707:I1639V	I	-	1	0	KIDINS220	8788702	0.000000	0.05858	0.000000	0.03702	0.921000	0.55340	-2.264000	0.01173	-3.191000	0.00219	-0.256000	0.11100	ATT		0.498	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		C	8871251	T	C	8871251	3	2	108	1	0	0	0	0	1	0	0	0	8273	1493	52	3	404	3	KIDINS220	2	8871251	Missense_Mutation	SNP	T	TCGA-AK-3455-01A-01D-0966-08		8871251	234328122	7	6748											
RAD51AP2	729475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	17698328	17698328	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:17698328A>G	ENST00000399080.2	-	1	1378	c.1355T>C	c.(1354-1356)aTc>aCc	p.I452T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	452								p.I452T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATGCATTGATGACTTTTGC	0.308																																																1	Substitution - Missense(1)	kidney(1)											61	55	57					2																	17698328		1825	4077	5902	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1355T>C	2.37:g.17698328A>G	ENSP00000382030:p.Ile452Thr			Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	A	8.983	0.975730	0.18736	.	.	ENSG00000214842	ENST00000399080	T	0.25749	1.78	4.74	0.887	0.19200	.	.	.	.	.	T	0.11750	0.0286	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25433	-1.0132	9	0.48119	T	0.1	0.0014	5.3296	0.15924	0.5314:0.1463:0.3222:0.0	.	452	Q09MP3	R51A2_HUMAN	T	452	ENSP00000382030:I452T	ENSP00000382030:I452T	I	-	2	0	RAD51AP2	17561809	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.300000	0.08243	0.048000	0.15891	0.460000	0.39030	ATC		0.308	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		G	17698328	A	G	17698328	3	3	108	1	0	0	0	0	1	0	0	0	12993	333	12	3	2136	3	RAD51AP2	2	17698328	Missense_Mutation	SNP	A	TCGA-AK-3455-01A-01D-0966-08	8827077	17698328	225501045	8	6749											
ANKRD36B	0	hgsc.bcm.edu	37	2	98124519	98124519	+	IGR	DEL	T	T	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:98124519delT								AC159540.1 (33470 upstream) : ANKRD36B (39508 downstream)																							TGATCCTGTATTTCTTGAAAC	0.289																																																0													0	1	1					2																	98124519		0	3	3	SO:0001628	intergenic_variant	57730																															2.37:g.98124519delT				Frame_Shift_Del	DEL		37																																																																																				0	0.289									-	98124519	T	-	98124519	6	5	108	0	1	1	0	1	0	0	0	0	666	1493	52	0		0	ANKRD36B	2	98124519	IGR	DEL	T	TCGA-AK-3455-01A-01D-0966-08	80426191	98124519	145074854	9	6750											
PDK1	5163	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	173435508	173435508	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:173435508A>G	ENST00000282077.3	+	8	1083	c.901A>G	c.(901-903)Att>Gtt	p.I301V	PDK1_ENST00000410055.1_Missense_Mutation_p.I301V|PDK1_ENST00000543905.1_Missense_Mutation_p.I225V|PDK1_ENST00000544863.1_Missense_Mutation_p.I146V|PDK1_ENST00000392571.2_Missense_Mutation_p.I321V			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	301	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.I301V(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TTACCCCCCTATTCAAGTTCA	0.348									Autosomal Dominant Polycystic Kidney Disease																																							1	Substitution - Missense(1)	kidney(1)											126	117	120					2																	173435508		2203	4300	6503	SO:0001583	missense	5163	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"pyruvate dehydrogenase kinase, isoenzyme 1"			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.901A>G	2.37:g.173435508A>G	ENSP00000282077:p.Ile301Val		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	A	6.881	0.531953	0.13127	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000416991	T;T;T;T;T;T	0.64991	0.26;0.26;0.26;0.26;0.26;-0.13	5.78	0.71	0.18157	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.365986	0.34603	N	0.003821	T	0.42944	0.1225	N	0.20401	0.57	0.42190	D	0.991725	B;B	0.21147	0.009;0.052	B;B	0.30495	0.048;0.116	T	0.09465	-1.0673	10	0.14656	T	0.56	-9.4016	9.4171	0.38528	0.6601:0.0:0.3399:0.0	.	301;321	Q15118;E9PD65	PDK1_HUMAN;.	V	225;146;301;321;301;219	ENSP00000438567:I225V;ENSP00000437502:I146V;ENSP00000282077:I301V;ENSP00000376352:I321V;ENSP00000386985:I301V;ENSP00000399160:I219V	ENSP00000282077:I301V	I	+	1	0	PDK1	173143754	0.960000	0.32886	0.505000	0.27651	0.297000	0.27493	1.096000	0.30976	-0.093000	0.12396	0.482000	0.46254	ATT		0.348	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		G	173435508	A	G	173435508	3	3	108	1	0	0	0	0	1	0	0	0	11677	449	16	3	931	3	PDK1	2	173435508	Missense_Mutation	SNP	A	TCGA-AK-3455-01A-01D-0966-08	75310989	173435508	69763865	10	6751											
SPATS2L	26010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201304031	201304031	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:201304031A>G	ENST00000358677.5	+	7	879	c.632A>G	c.(631-633)gAt>gGt	p.D211G	SPATS2L_ENST00000409140.3_Missense_Mutation_p.D211G|SPATS2L_ENST00000409718.1_Missense_Mutation_p.D211G|SPATS2L_ENST00000451764.2_Missense_Mutation_p.D211G|SPATS2L_ENST00000409151.1_Missense_Mutation_p.D219G|SPATS2L_ENST00000409755.3_Missense_Mutation_p.D241G|SPATS2L_ENST00000409988.3_Missense_Mutation_p.D211G|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409385.1_Missense_Mutation_p.D151G	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	211						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)	p.D211G(1)|p.D241G(1)		endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						ATAAAGCCAGATGAGTTGGCA	0.413																																																2	Substitution - Missense(2)	kidney(2)											77	72	74					2																	201304031		1867	4105	5972	SO:0001583	missense	26010			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.632A>G	2.37:g.201304031A>G	ENSP00000351503:p.Asp211Gly		A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534489	0.64972	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000007	T	0.66228	0.2768	L	0.40543	1.245	0.47994	D	0.999567	D;D	0.76494	0.999;0.989	D;P	0.85130	0.997;0.87	T	0.61549	-0.7040	9	0.23302	T	0.38	-23.9527	14.0429	0.64687	1.0:0.0:0.0:0.0	.	241;211	B4DT67;Q9NUQ6	.;SPS2L_HUMAN	G	211;211;211;151;211;211;241;219	.	ENSP00000351503:D211G	D	+	2	0	SPATS2L	201012276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.412000	0.66392	2.244000	0.73946	0.528000	0.53228	GAT		0.413	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		G	201304031	A	G	201304031	3	3	108	1	0	0	0	0	1	0	0	0	15025	333	12	3	650	3	SPATS2L	2	201304031	Missense_Mutation	SNP	A	TCGA-AK-3455-01A-01D-0966-08	27868523	201304031	41895342	11	6752											
DOCK10	55619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225637922	225637922	+	Silent	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:225637922C>T	ENST00000258390.7	-	53	6223	c.6156G>A	c.(6154-6156)gtG>gtA	p.V2052V	DOCK10_ENST00000409592.3_Silent_p.V2046V	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2052	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V559V(2)|p.V2050V(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGATCATGTCCACTTCTTCCA	0.473																																																4	Substitution - coding silent(4)	kidney(4)											111	106	108					2																	225637922		2175	4275	6450	SO:0001819	synonymous_variant	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6156G>A	2.37:g.225637922C>T			B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	CCDS46528.1																																																																																				0.473	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			T	225637922	C	T	225637922	2	4	108	1	0	0	0	0	0	0	0	1	4687	581	21	2		2	DOCK10	2	225637922	Silent	SNP	C	TCGA-AK-3455-01A-01D-0966-08	24333891	225637922	17561451	12	6753											
SNED1	25992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	241989270	241989270	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:241989270A>G	ENST00000310397.8	+	12	1655	c.1655A>G	c.(1654-1656)aAc>aGc	p.N552S	SNED1_ENST00000401884.1_Missense_Mutation_p.N552S|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.N552S|SNED1_ENST00000405547.3_Missense_Mutation_p.N552S|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	552	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.N552S(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCCTGCTTCAACGGAGGCTCC	0.687																																																1	Substitution - Missense(1)	kidney(1)											59	66	64					2																	241989270		2152	4237	6389	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1655A>G	2.37:g.241989270A>G	ENSP00000308893:p.Asn552Ser		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.5|27.5	4.837220|4.837220	0.91117|0.91117	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631|ENST00000431690	D;D;D;D|.	0.94828|.	-3.53;-3.53;-3.53;-3.53|.	5.2|5.2	5.2|5.2	0.72013|0.72013	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.64402|.	D|.	0.000017|.	D|D	0.84942|0.84942	0.5584|0.5584	M|M	0.92923|0.92923	3.36|3.36	0.53688|0.53688	D|D	0.999979|0.999979	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.88967|0.88967	0.3398|0.3398	10|5	0.66056|.	D|.	0.02|.	.|.	15.0808|15.0808	0.72113|0.72113	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	552|.	Q8TER0|.	SNED1_HUMAN|.	S|A	552|210	ENSP00000384871:N552S;ENSP00000386007:N552S;ENSP00000308893:N552S;ENSP00000342992:N552S|.	ENSP00000308893:N552S|.	N|T	+|+	2|1	0|0	SNED1|SNED1	241637943|241637943	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	7.985000|7.985000	0.88162|0.88162	1.959000|1.959000	0.56917|0.56917	0.533000|0.533000	0.62120|0.62120	AAC|ACG		0.687	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		G	241989270	A	G	241989270	3	3	108	1	0	0	0	0	1	0	0	0	14851	43	2	3	1701	3	SNED1	2	241989270	Missense_Mutation	SNP	A	TCGA-AK-3455-01A-01D-0966-08	16351348	241989270	1210103	13	6754											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188204	10188204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:10188204delT	ENST00000256474.2	+	2	1187	c.347delT	c.(346-348)cttfs	p.L116fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)|p.W117fs*14(2)|p.H115fs*15(1)|p.W117fs*42(1)|p.H115fs*41(1)|p.H115fs*42(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATAGGTCACCTTTGGCTCTTC	0.527		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Deletion - Frameshift(6)|Unknown(2)	kidney(8)											173	161	165					3																	10188204		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.347delT	3.37:g.10188204delT	ENSP00000256474:p.Leu116fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188204	T	-	10188204	7	5	108	1	0	1	0	1	0	0	0	0	17167	1609	56	0	353	0	VHL	3	10188204	Frame_Shift_Del	DEL	T	TCGA-AK-3455-01A-01D-0966-08		10188204	187834226	14	6755											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47143014	47143014	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:47143014A>G	ENST00000409792.3	-	8	4991	c.4949T>C	c.(4948-4950)tTt>tCt	p.F1650S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1650	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.F1147S(1)|p.F1650S(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGTGGTAAAAAACCCAACCCT	0.398			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											154	153	154					3																	47143014		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4949T>C	3.37:g.47143014A>G	ENSP00000386759:p.Phe1650Ser		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	29.3	4.998578	0.93227	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.83755	-1.76	5.94	5.94	0.96194	SET domain (3);	0.000000	0.56097	D	0.000038	D	0.94745	0.8304	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96621	0.9459	10	0.87932	D	0	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	1650;1650	F2Z317;Q9BYW2	.;SETD2_HUMAN	S	1650	ENSP00000386759:F1650S	ENSP00000386759:F1650S	F	-	2	0	SETD2	47118018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.238000	0.95380	2.275000	0.75901	0.528000	0.53228	TTT		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47143014	A	G	47143014	3	3	108	1	0	0	0	0	1	0	0	0	14137	14	1	3	2801	3	SETD2	3	47143014	Missense_Mutation	SNP	A	TCGA-AK-3455-01A-01D-0966-08	36954810	47143014	150879416	15	6756											
NFKBIZ	64332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	101570960	101570960	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:101570960G>C	ENST00000326172.5	+	2	436	c.321G>C	c.(319-321)caG>caC	p.Q107H	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.Q7H|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.Q107H	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	107					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q107H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GCAGGCAGCAGAGAGGCCCCT	0.448																																																1	Substitution - Missense(1)	kidney(1)											94	98	97					3																	101570960		2203	4300	6503	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.321G>C	3.37:g.101570960G>C	ENSP00000325663:p.Gln107His		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838798	0.16891	.	.	ENSG00000144802	ENST00000461724;ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;T;T	0.57907	0.58;0.53;0.37;0.57	5.51	3.74	0.42951	.	0.093496	0.47455	D	0.000224	T	0.28101	0.0693	N	0.12746	0.255	0.29906	N	0.824004	B;B	0.13145	0.004;0.007	B;B	0.14023	0.01;0.007	T	0.11275	-1.0594	10	0.27082	T	0.32	-19.9822	3.7618	0.08607	0.1464:0.1296:0.5905:0.1335	.	107;107	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	H	107;7;7;107;107;7	ENSP00000419800:Q7H;ENSP00000377618:Q7H;ENSP00000325593:Q107H;ENSP00000325663:Q107H	ENSP00000325593:Q107H	Q	+	3	2	NFKBIZ	103053650	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.045000	0.30341	0.707000	0.31934	0.563000	0.77884	CAG		0.448	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		C	101570960	G	C	101570960	3	2	108	1	0	0	0	0	1	0	0	0	10385	933	33	4	327	4	NFKBIZ	3	101570960	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	54427946	101570960	96451470	16	6757											
MYH15	22989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	108117669	108117669	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:108117669C>G	ENST00000273353.3	-	36	5064	c.5008G>C	c.(5008-5010)Gat>Cat	p.D1670H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1670						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D1670H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGCTGTCATCCAGCTGCATT	0.498																																																1	Substitution - Missense(1)	kidney(1)											118	121	120					3																	108117669		2095	4225	6320	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5008G>C	3.37:g.108117669C>G	ENSP00000273353:p.Asp1670His			Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318081	0.81469	.	.	ENSG00000144821	ENST00000273353	T	0.80214	-1.35	5.44	3.62	0.41486	Myosin tail (1);	.	.	.	.	D	0.90463	0.7013	M	0.90922	3.16	0.45662	D	0.998589	D	0.89917	1.0	D	0.79784	0.993	D	0.90603	0.4546	9	0.87932	D	0	.	10.7783	0.46363	0.1312:0.8:0.0:0.0688	.	1670	Q9Y2K3	MYH15_HUMAN	H	1670	ENSP00000273353:D1670H	ENSP00000273353:D1670H	D	-	1	0	MYH15	109600359	1.000000	0.71417	0.008000	0.14137	0.486000	0.33341	4.773000	0.62331	0.640000	0.30582	0.655000	0.94253	GAT		0.498	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		G	108117669	C	G	108117669	3	3	108	1	0	0	0	0	1	0	0	0	10036	855	30	4	860	4	MYH15	3	108117669	Missense_Mutation	SNP	C	TCGA-AK-3455-01A-01D-0966-08	6546709	108117669	89904761	17	6758											
PARP14	54625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122447427	122447427	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:122447427A>C	ENST00000474629.2	+	17	5655	c.5389A>C	c.(5389-5391)Att>Ctt	p.I1797L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1797	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I1634L(1)|p.I1797L(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGAGTACCTTATTACGTTTAG	0.328																																																2	Substitution - Missense(2)	kidney(2)											133	129	130					3																	122447427		1858	4101	5959	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5389A>C	3.37:g.122447427A>C	ENSP00000418194:p.Ile1797Leu		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.025964	0.93518	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.12774	2.65	5.87	5.87	0.94306	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.080145	0.51477	D	0.000099	T	0.40247	0.1109	M	0.80508	2.5	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.20438	-1.0275	10	0.44086	T	0.13	.	15.0878	0.72167	1.0:0.0:0.0:0.0	.	1797	Q460N5	PAR14_HUMAN	L	1797;1716;793	ENSP00000418194:I1797L	ENSP00000381224:I793L	I	+	1	0	PARP14	123930117	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.468000	0.80943	2.230000	0.72887	0.533000	0.62120	ATT		0.328	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		C	122447427	A	C	122447427	3	2	108	1	0	0	0	0	1	0	0	0	11460	449	16	5	5455	5	PARP14	3	122447427	Missense_Mutation	SNP	A	TCGA-AK-3455-01A-01D-0966-08	14329758	122447427	75575003	18	6759											
SI	6476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	164767593	164767593	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:164767593G>A	ENST00000264382.3	-	14	1645	c.1583C>T	c.(1582-1584)cCa>cTa	p.P528L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	528	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.P528L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGTAAACGGTGGATAATTCAA	0.279										HNSCC(35;0.089)																																						1	Substitution - Missense(1)	kidney(1)											91	101	97					3																	164767593		2203	4289	6492	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1583C>T	3.37:g.164767593G>A	ENSP00000264382:p.Pro528Leu		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806826	0.70682	.	.	ENSG00000090402	ENST00000264382	D	0.91996	-2.95	5.58	5.58	0.84498	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98387	1.0561	10	0.87932	D	0	.	18.5615	0.91101	0.0:0.0:1.0:0.0	.	528	P14410	SUIS_HUMAN	L	528	ENSP00000264382:P528L	ENSP00000264382:P528L	P	-	2	0	SI	166250287	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	9.114000	0.94329	2.622000	0.88805	0.585000	0.79938	CCA		0.279	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		A	164767593	G	A	164767593	3	1	108	1	0	0	0	0	1	0	0	0	14303	1348	47	2	4040	2	SI	3	164767593	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	42320166	164767593	33254837	19	6760											
TBL1XR1	79718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	176767807	176767807	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:176767807T>C	ENST00000430069.1	-	7	939	c.680A>G	c.(679-681)gAt>gGt	p.D227G	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D227G			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	227					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.D227G(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AGATGTGACATCCTTGTTGCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											162	149	153					3																	176767807		1981	4144	6125	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.680A>G	3.37:g.176767807T>C	ENSP00000405574:p.Asp227Gly		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.876757	0.91664	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.59083	0.29;0.29	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	N	0.04805	-0.155	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.63954	-0.6520	10	0.42905	T	0.14	-9.5326	14.6231	0.68599	0.0:0.0:0.0:1.0	.	227	Q9BZK7	TBL1R_HUMAN	G	227;227;89	ENSP00000405574:D227G;ENSP00000413251:D227G	ENSP00000405574:D227G	D	-	2	0	TBL1XR1	178250501	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	8.031000	0.88826	2.100000	0.63781	0.533000	0.62120	GAT		0.413	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		C	176767807	T	C	176767807	3	2	108	1	0	0	0	0	1	0	0	0	15645	1435	50	3	904	3	TBL1XR1	3	176767807	Missense_Mutation	SNP	T	TCGA-AK-3455-01A-01D-0966-08	12000214	176767807	21254623	20	6761											
PHF17	79960	broad.mit.edu;ucsc.edu	37	4	129782923	129782923	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr4:129782923T>G	ENST00000226319.6	+	9	1326	c.1046T>G	c.(1045-1047)aTg>aGg	p.M349R	PHF17_ENST00000413543.2_Missense_Mutation_p.M349R|PHF17_ENST00000511647.1_Missense_Mutation_p.M349R|PHF17_ENST00000512960.1_Missense_Mutation_p.M349R|PHF17_ENST00000452328.2_Missense_Mutation_p.M337R	NM_199320.2	NP_955352.1												p.M349R(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCCTGGAGATGAAGACCATC	0.498																																																1	Substitution - Missense(1)	kidney(1)											105	112	110					4																	129782923		2203	4300	6503	SO:0001583	missense	79960																														ENST00000226319.6:c.1046T>G	4.37:g.129782923T>G	ENSP00000226319:p.Met349Arg			Missense_Mutation	SNP	ENST00000226319.6	37	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.074529	0.76415	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.01	5.01	0.66863	Zinc finger, PHD-type (1);	0.037424	0.85682	D	0.000000	T	0.57666	0.2069	H	0.97415	4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.996	T	0.74450	-0.3661	9	.	.	.	.	14.8958	0.70644	0.0:0.0:0.0:1.0	.	337;349;349	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	R	349;349;337;349;349;349	ENSP00000226319:M349R;ENSP00000423737:M349R;ENSP00000388015:M337R;ENSP00000425730:M349R;ENSP00000404211:M349R	.	M	+	2	0	PHF17	130002373	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.236000	0.78154	2.109000	0.64355	0.533000	0.62120	ATG		0.498	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			G	129782923	T	G	129782923	3	3	108	1	0	0	0	0	1	0	0	0	11830	1464	51	5	1076	5	PHF17	4	129782923	Missense_Mutation	SNP	T	TCGA-AK-3455-01A-01D-0966-08		129782923	61371353	21	6762											
CDH18	1016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	19747190	19747190	+	Silent	SNP	A	A	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr5:19747190A>C	ENST00000507958.1	-	6	1374	c.384T>G	c.(382-384)gcT>gcG	p.A128A	CDH18_ENST00000274170.4_Silent_p.A128A|CDH18_ENST00000502796.1_Silent_p.A128A|CDH18_ENST00000382275.1_Silent_p.A128A|CDH18_ENST00000511273.1_Silent_p.A128A|CDH18_ENST00000506372.1_Silent_p.A128A			Q13634	CAD18_HUMAN	cadherin 18, type 2	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A128A(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CAATAGCTTGAGCATGAAGCA	0.433																																																2	Substitution - coding silent(2)	kidney(2)											246	220	229					5																	19747190		2203	4300	6503	SO:0001819	synonymous_variant	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.384T>G	5.37:g.19747190A>C			A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		C	19747190	A	C	19747190	2	2	108	1	0	0	0	0	0	0	0	1	3105	291	11	5		5	CDH18	5	19747190	Silent	SNP	A	TCGA-AK-3455-01A-01D-0966-08		19747190	161168070	22	6763											
DMGDH	29958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	78350168	78350168	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr5:78350168C>G	ENST00000255189.3	-	4	407	c.379G>C	c.(379-381)Gtg>Ctg	p.V127L	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000520388.1_5'Flank	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	127					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.V127L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TGGAATCCCACCACCTGTGAC	0.413																																																1	Substitution - Missense(1)	kidney(1)											64	59	60					5																	78350168		2203	4300	6503	SO:0001583	missense	29958			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.379G>C	5.37:g.78350168C>G	ENSP00000255189:p.Val127Leu		B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265022	0.80358	.	.	ENSG00000132837	ENST00000255189	T	0.81330	-1.48	5.55	5.55	0.83447	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	L	0.43152	1.355	0.80722	D	1	B	0.32188	0.359	B	0.34722	0.188	T	0.76350	-0.2991	10	0.45353	T	0.12	.	19.5026	0.95103	0.0:1.0:0.0:0.0	.	127	Q9UI17	M2GD_HUMAN	L	127	ENSP00000255189:V127L	ENSP00000255189:V127L	V	-	1	0	DMGDH	78385924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.880000	0.63107	2.587000	0.87381	0.655000	0.94253	GTG		0.413	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		G	78350168	C	G	78350168	3	3	108	1	0	0	0	0	1	0	0	0	4583	507	18	4	2273	4	DMGDH	5	78350168	Missense_Mutation	SNP	C	TCGA-AK-3455-01A-01D-0966-08	58602978	78350168	102565092	23	6764											
TSLP	85480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	110407687	110407687	+	Silent	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr5:110407687C>T	ENST00000344895.3	+	1	298	c.99C>T	c.(97-99)aaC>aaT	p.N33N	TSLP_ENST00000379706.4_5'Flank|TSLP_ENST00000420978.2_Silent_p.N33N	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	33						extracellular space (GO:0005615)		p.N33N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACTTCACTAACTGTGACTTTG	0.353																																																1	Substitution - coding silent(1)	kidney(1)											152	144	146					5																	110407687		2202	4300	6502	SO:0001819	synonymous_variant	85480			BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.99C>T	5.37:g.110407687C>T			Q8IW99	Silent	SNP	ENST00000344895.3	37	CCDS4101.1																																																																																				0.353	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035		T	110407687	C	T	110407687	2	4	108	1	0	0	0	0	0	0	0	1	16633	564	20	2		2	TSLP	5	110407687	Silent	SNP	C	TCGA-AK-3455-01A-01D-0966-08	32057519	110407687	70507573	24	6765											
ARHGAP26	23092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	142526819	142526819	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr5:142526819A>T	ENST00000274498.4	+	20	2239	c.1861A>T	c.(1861-1863)Aac>Tac	p.N621Y	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.N621Y	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	621	Ser-rich.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.N621Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCATCATCAACTCCAGTTT	0.443																																																1	Substitution - Missense(1)	kidney(1)											141	132	135					5																	142526819		2203	4300	6503	SO:0001583	missense	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1861A>T	5.37:g.142526819A>T	ENSP00000274498:p.Asn621Tyr		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564073	0.65651	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668	T;T	0.08546	3.08;3.11	5.31	2.91	0.33838	.	0.752852	0.13438	N	0.387935	T	0.06781	0.0173	L	0.29908	0.895	0.41356	D	0.98739	P;P;P	0.39576	0.679;0.454;0.589	B;B;B	0.37047	0.188;0.188;0.24	T	0.39251	-0.9623	10	0.45353	T	0.12	.	8.8585	0.35242	0.8422:0.0:0.1578:0.0	.	621;194;621	Q9UNA1;B3KT96;Q9UNA1-2	RHG26_HUMAN;.;.	Y	621;621;194	ENSP00000274498:N621Y;ENSP00000367243:N621Y	ENSP00000274498:N621Y	N	+	1	0	ARHGAP26	142507012	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.100000	0.50275	0.950000	0.37743	0.533000	0.62120	AAC		0.443	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		T	142526819	A	T	142526819	3	4	108	1	0	0	0	0	1	0	0	0	875	130	5	5	1939	5	ARHGAP26	5	142526819	Missense_Mutation	SNP	A	TCGA-AK-3455-01A-01D-0966-08	32119132	142526819	38388441	25	6766											
BAT2	7916	hgsc.bcm.edu	37	6	31593814	31593815	+	Frame_Shift_Ins	INS	-	-	G	rs376264291|rs147717718		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr6:31593814_31593815insG	ENST00000376033.2	+	9	1091_1092	c.857_858insG	c.(856-861)gcgggcfs	p.AG286fs	PRRC2A_ENST00000469577.1_3'UTR|SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.AG286fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	286	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCGTGTGGCGGGCCCCCGAG	0.495																																																0																																										SO:0001589	frameshift_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.860dupG	6.37:g.31593817_31593817dupG	ENSP00000365201:p.Ala286fs		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Frame_Shift_Ins	INS	ENST00000376033.2	37	CCDS4708.1																																																																																				0.495	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		G	31593815	-	G	31593814	7	5	108	1	0	1	1	0	0	0	0	0	1319	768	27	0	887	0	BAT2	6	31593814	Frame_Shift_Ins	INS	-	TCGA-AK-3455-01A-01D-0966-08		31593814	139521253	26	6767											
IP6K3	117283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33693343	33693343	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr6:33693343G>C	ENST00000293756.4	-	5	966	c.640C>G	c.(640-642)Ctg>Gtg	p.L214V	IP6K3_ENST00000451316.1_Missense_Mutation_p.L214V	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	214	Substrate binding. {ECO:0000250}.				inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.L214V(1)		skin(1)	1						TTCAGATCCAGGACACAGGGA	0.552																																																1	Substitution - Missense(1)	kidney(1)											96	84	88					6																	33693343		2203	4300	6503	SO:0001583	missense	117283			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"inositol hexaphosphate kinase 3"	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.640C>G	6.37:g.33693343G>C	ENSP00000293756:p.Leu214Val		Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584006	0.65992	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.26067	1.76;1.76	5.82	3.03	0.35002	.	0.134831	0.33610	N	0.004731	T	0.43255	0.1239	M	0.90542	3.125	0.44918	D	0.997937	D	0.89917	1.0	D	0.87578	0.998	T	0.49312	-0.8953	10	0.87932	D	0	-24.5588	8.6706	0.34147	0.3674:0.0:0.6326:0.0	.	214	Q96PC2	IP6K3_HUMAN	V	214	ENSP00000398861:L214V;ENSP00000293756:L214V	ENSP00000293756:L214V	L	-	1	2	IP6K3	33801321	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	1.356000	0.34079	0.352000	0.24053	0.655000	0.94253	CTG		0.552	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		C	33693343	G	C	33693343	3	2	108	1	0	0	0	0	1	0	0	0	7792	991	35	4	600	4	IP6K3	6	33693343	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	2099529	33693343	137421724	27	6768											
UHRF1BP1	54887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	34826414	34826414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr6:34826414C>T	ENST00000192788.5	+	14	2452	c.2281C>T	c.(2281-2283)Cag>Tag	p.Q761*	UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.Q761*	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	761							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.Q761*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAGTCCTGTCCAGTCTGAGGC	0.537																																																1	Substitution - Nonsense(1)	kidney(1)											69	67	67					6																	34826414		1917	4121	6038	SO:0001587	stop_gained	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2281C>T	6.37:g.34826414C>T	ENSP00000192788:p.Gln761*		Q9NXE0	Nonsense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	37	5.996531	0.97184	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	.	.	.	5.55	5.55	0.83447	.	0.845955	0.10748	N	0.638714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0287	9.3661	0.38226	0.2266:0.6378:0.1356:0.0	.	.	.	.	X	761	.	ENSP00000192788:Q761X	Q	+	1	0	UHRF1BP1	34934392	0.141000	0.22595	0.500000	0.27589	0.748000	0.42578	1.480000	0.35464	2.624000	0.88883	0.585000	0.79938	CAG		0.537	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		T	34826414	C	T	34826414	4	4	108	1	0	0	0	0	0	1	0	0	16973	595	21	2	2335	2	UHRF1BP1	6	34826414	Nonsense_Mutation	SNP	C	TCGA-AK-3455-01A-01D-0966-08	1133071	34826414	136288653	28	6769											
TAAR5	9038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132910010	132910010	+	Silent	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr6:132910010C>T	ENST00000258034.2	-	1	867	c.816G>A	c.(814-816)acG>acA	p.T272T		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	272			T -> M (in dbSNP:rs34746740).		G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.T272T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TGTCGACCATCGTGTCTATGG	0.527																																																1	Substitution - coding silent(1)	kidney(1)											93	96	95					6																	132910010		2203	4300	6503	SO:0001819	synonymous_variant	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.816G>A	6.37:g.132910010C>T			D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	CCDS5156.1																																																																																				0.527	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		T	132910010	C	T	132910010	2	4	108	1	0	0	0	0	0	0	0	1	15496	871	31	1		1	TAAR5	6	132910010	Silent	SNP	C	TCGA-AK-3455-01A-01D-0966-08	98083596	132910010	38205057	29	6770											
MTRF1L	54516	broad.mit.edu	37	6	153323724	153323724	+	Silent	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr6:153323724G>A	ENST00000367233.5	-	1	96	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	MTRF1L_ENST00000367230.1_Silent_p.L33L|MTRF1L_ENST00000367231.5_Silent_p.L33L|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	33						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)	p.L33L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		AGCTCCTCCAGCGGCGGGCTA	0.736																																																1	Substitution - coding silent(1)	kidney(1)											3	3	3					6																	153323724		1657	3479	5136	SO:0001819	synonymous_variant	54516			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.97C>T	6.37:g.153323724G>A			B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Silent	SNP	ENST00000367233.5	37	CCDS5243.1																																																																																				0.736	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		A	153323724	G	A	153323724	2	1	108	1	0	0	0	0	0	0	0	1	9962	962	34	2		2	MTRF1L	6	153323724	Silent	SNP	G	TCGA-AK-3455-01A-01D-0966-08	20413714	153323724	17791343	30	6771											
CCDC146	57639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	76891575	76891575	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:76891575G>T	ENST00000285871.4	+	9	1251	c.1124G>T	c.(1123-1125)tGg>tTg	p.W375L	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.W121L	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	375								p.W375L(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAGTGTCCTGGGATGCACTT	0.408																																																1	Substitution - Missense(1)	kidney(1)											90	89	89					7																	76891575		2203	4300	6503	SO:0001583	missense	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1124G>T	7.37:g.76891575G>T	ENSP00000285871:p.Trp375Leu		A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	G	2.248	-0.372234	0.05034	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.27256	1.68;1.68	5.78	-11.6	0.00059	.	2.251410	0.01182	N	0.007113	T	0.06508	0.0167	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.22626	-1.0211	10	0.23891	T	0.37	17.977	6.7042	0.23242	0.07:0.2814:0.0886:0.56	.	121;375	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	L	375;121	ENSP00000285871:W375L;ENSP00000413885:W121L	ENSP00000285871:W375L	W	+	2	0	AC007000.1	76729511	0.000000	0.05858	0.000000	0.03702	0.606000	0.37113	-1.213000	0.02991	-2.200000	0.00747	-0.309000	0.09137	TGG		0.408	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		T	76891575	G	T	76891575	3	4	108	1	0	0	0	0	1	0	0	0	2782	1357	47	4	1154	4	CCDC146	7	76891575	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08		76891575	82247088	31	6772											
ZNF804B	219578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	88963296	88963296	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:88963296G>A	ENST00000333190.4	+	4	1609	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	334							metal ion binding (GO:0046872)	p.V334I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTTTCAGATGTAGATTTTAC	0.333										HNSCC(36;0.09)																																						1	Substitution - Missense(1)	kidney(1)											34	36	35					7																	88963296		2202	4295	6497	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1000G>A	7.37:g.88963296G>A	ENSP00000329638:p.Val334Ile		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	5.014	0.188194	0.09547	.	.	ENSG00000182348	ENST00000333190	T	0.04758	3.56	5.14	0.353	0.16058	.	0.753550	0.11932	N	0.515591	T	0.03739	0.0106	L	0.38531	1.155	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.46275	-0.9203	10	0.20519	T	0.43	3.1224	5.0793	0.14647	0.4101:0.0:0.4227:0.1673	.	334	A4D1E1	Z804B_HUMAN	I	334	ENSP00000329638:V334I	ENSP00000329638:V334I	V	+	1	0	ZNF804B	88801232	0.991000	0.36638	0.070000	0.20053	0.994000	0.84299	0.475000	0.22164	0.167000	0.19631	0.655000	0.94253	GTA		0.333	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		A	88963296	G	A	88963296	3	1	108	1	0	0	0	0	1	0	0	0	18176	1377	48	2	1014	2	ZNF804B	7	88963296	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	12071721	88963296	70175367	32	6773											
CUX1	1523	hgsc.bcm.edu;ucsc.edu	37	7	101844801	101844802	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:101844801_101844802insC	ENST00000292535.7	+	18	2262_2263	c.2224_2225insC	c.(2224-2226)accfs	p.T742fs	CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Frame_Shift_Ins_p.T686fs|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Frame_Shift_Ins_p.T584fs|CUX1_ENST00000546411.2_Frame_Shift_Ins_p.T640fs|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Frame_Shift_Ins_p.T753fs|CUX1_ENST00000549414.2_Frame_Shift_Ins_p.T720fs	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	742					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CACCATCCTCACCCCCAAGCTT	0.653																																																0																																										SO:0001589	frameshift_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2229dupC	7.37:g.101844806_101844806dupC	ENSP00000292535:p.Thr742fs		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Frame_Shift_Ins	INS	ENST00000292535.7	37	CCDS5721.1																																																																																				0.653	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		C	101844802	-	C	101844801	7	5	108	1	0	1	1	0	0	0	0	0	4066	159	6	0	2361	0	CUX1	7	101844801	Frame_Shift_Ins	INS	-	TCGA-AK-3455-01A-01D-0966-08	12881505	101844801	57293862	33	6774											
CUX1	1523	broad.mit.edu	37	7	101891738	101891738	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:101891738A>G	ENST00000292535.7	+	24	3972	c.3934A>G	c.(3934-3936)Agt>Ggt	p.S1312G	CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.S1256G|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.S1154G|CUX1_ENST00000546411.2_Missense_Mutation_p.S1210G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.S1323G|CUX1_ENST00000549414.2_Missense_Mutation_p.S1290G	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1312					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.S1312G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAGGCCGGGAGTCAGGGCCA	0.697																																																1	Substitution - Missense(1)	kidney(1)											12	13	12					7																	101891738		2157	4188	6345	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3934A>G	7.37:g.101891738A>G	ENSP00000292535:p.Ser1312Gly		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.188383	0.38609	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60797	0.17;0.16;0.17;0.17;0.17;0.17	3.96	2.81	0.32909	Homeodomain-like (1);	0.178001	0.49916	D	0.000121	T	0.45256	0.1333	L	0.50333	1.59	0.80722	D	1	B;B	0.11235	0.0;0.004	B;B	0.13407	0.001;0.009	T	0.21415	-1.0246	10	0.17832	T	0.49	-1.5633	7.3677	0.26783	0.8145:0.0:0.1855:0.0	.	1312;1323	P39880;P39880-3	CUX1_HUMAN;.	G	1323;1312;1290;1256;1210;1154	ENSP00000353401:S1323G;ENSP00000292535:S1312G;ENSP00000446630:S1290G;ENSP00000447373:S1256G;ENSP00000450125:S1210G;ENSP00000451558:S1154G	ENSP00000292535:S1312G	S	+	1	0	CUX1	101678458	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	3.993000	0.56987	0.580000	0.29522	0.459000	0.35465	AGT		0.697	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		G	101891738	A	G	101891738	3	3	108	1	0	0	0	0	1	0	0	0	4066	304	11	3	4095	3	CUX1	7	101891738	Missense_Mutation	SNP	A	TCGA-AK-3455-01A-01D-0966-08	46937	101891738	57246925	34	6775											
DOCK4	9732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	111509659	111509659	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:111509659G>A	ENST00000437633.1	-	21	2336	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.R694W	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	694					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.R682W(1)|p.R694W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGCTCTTGCCGCTCTGCTTCT	0.423																																																2	Substitution - Missense(2)	kidney(2)											162	146	151					7																	111509659		2017	4188	6205	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2080C>T	7.37:g.111509659G>A	ENSP00000404179:p.Arg694Trp		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025908	0.75390	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.42513	0.97;0.97	5.3	2.41	0.29592	.	0.452954	0.23176	N	0.051079	T	0.53286	0.1787	M	0.79475	2.455	0.58432	D	0.999991	D;P;D;D	0.59767	0.986;0.952;0.978;0.972	P;B;P;P	0.54100	0.582;0.393;0.556;0.742	T	0.55055	-0.8200	10	0.87932	D	0	.	8.8727	0.35325	0.07:0.0:0.5338:0.3962	.	694;694;694;694	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.;.;DOCK4_HUMAN;.	W	682;694;694;682;693	ENSP00000410746:R694W;ENSP00000404179:R694W	ENSP00000345432:R682W	R	-	1	2	DOCK4	111296895	0.970000	0.33590	0.990000	0.47175	0.994000	0.84299	1.738000	0.38207	0.339000	0.23719	0.650000	0.86243	CGG		0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		A	111509659	G	A	111509659	3	1	108	1	0	0	0	0	1	0	0	0	4691	1086	38	1	3948	1	DOCK4	7	111509659	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	9617921	111509659	47629004	35	6776											
C7orf58	79974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	120765873	120765873	+	Splice_Site	SNP	G	G	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:120765873G>T	ENST00000310396.5	+	9	1528		c.e9-1		CPED1_ENST00000423795.1_Splice_Site|CPED1_ENST00000450913.2_Splice_Site	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1							endoplasmic reticulum (GO:0005783)		p.?(1)									TTTCATTTTAGATGCAGATTC	0.373																																																1	Unknown(1)	kidney(1)											188	160	170					7																	120765873		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1062-1G>T	7.37:g.120765873G>T			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Splice_Site	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789354	0.70337	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7368	0.91757	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf58	120553109	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	6.095000	0.71439	2.598000	0.87819	0.655000	0.94253	.		0.373	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	Intron	T	120765873	G	T	120765873	5	4	108	1	0	0	0	0	0	0	1	0	2407	956	33	4	1091	4	C7orf58	7	120765873	Splice_Site	SNP	G	TCGA-AK-3455-01A-01D-0966-08	9256214	120765873	38372790	36	6777											
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu	37	8	77616514	77616514	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr8:77616514T>G	ENST00000521891.2	+	2	639	c.191T>G	c.(190-192)tTc>tGc	p.F64C	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F64C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F64C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.F64C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.F64C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGCTGGGTTTCAGCGTTGAG	0.493										HNSCC(33;0.089)																																						1	Substitution - Missense(1)	kidney(1)											95	102	100					8																	77616514		2081	4222	6303	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.191T>G	8.37:g.77616514T>G	ENSP00000430497:p.Phe64Cys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	12.67	2.009081	0.35415	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.49432	0.78;0.84;0.8;1.51;0.92;1.51;0.93;0.8	5.53	5.53	0.82687	.	0.000000	0.47093	U	0.000260	T	0.43122	0.1233	N	0.14661	0.345	0.41000	D	0.984929	P;D;D;P	0.54964	0.947;0.969;0.969;0.924	P;P;P;P	0.50970	0.453;0.655;0.655;0.562	T	0.49072	-0.8977	10	0.54805	T	0.06	.	15.827	0.78718	0.0:0.0:0.0:1.0	.	64;64;64;64	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	C	64	ENSP00000430497:F64C;ENSP00000399605:F64C;ENSP00000050961:F64C;ENSP00000428525:F64C;ENSP00000429495:F64C;ENSP00000427775:F64C;ENSP00000427739:F64C;ENSP00000430848:F64C	ENSP00000050961:F64C	F	+	2	0	ZFHX4	77779069	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.101000	0.71479	2.324000	0.78689	0.533000	0.62120	TTC		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		G	77616514	T	G	77616514	3	3	108	1	0	0	0	0	1	0	0	0	17640	1783	62	5	193	5	ZFHX4	8	77616514	Missense_Mutation	SNP	T	TCGA-AK-3455-01A-01D-0966-08		77616514	68747508	37	6778											
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106801068	106801068	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr8:106801068T>G	ENST00000407775.2	+	6	905	c.655T>G	c.(655-657)Tac>Gac	p.Y219D	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Y87D|ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Y87D|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	219					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Y219D(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAGGGATGTACCCTGCACG	0.498																																																1	Substitution - Missense(1)	kidney(1)											111	108	109					8																	106801068		2011	4196	6207	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.655T>G	8.37:g.106801068T>G	ENSP00000384179:p.Tyr219Asp		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196469	0.79015	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361	T;T;T	0.20881	2.04;2.53;2.53	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.12116	-1.0560	10	0.66056	D	0.02	.	16.3305	0.83010	0.0:0.0:0.0:1.0	.	219	Q8WW38	FOG2_HUMAN	D	219;87;87	ENSP00000384179:Y219D;ENSP00000430757:Y87D;ENSP00000428720:Y87D	ENSP00000384179:Y219D	Y	+	1	0	ZFPM2	106870244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.655000	0.83696	2.317000	0.78254	0.459000	0.35465	TAC		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			G	106801068	T	G	106801068	3	3	108	1	0	0	0	0	1	0	0	0	17663	1638	57	5	677	5	ZFPM2	8	106801068	Missense_Mutation	SNP	T	TCGA-AK-3455-01A-01D-0966-08	29184554	106801068	39562954	38	6779											
ZFP37	7539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	115806234	115806234	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr9:115806234C>G	ENST00000374227.3	-	4	691	c.664G>C	c.(664-666)Ggc>Cgc	p.G222R	ZFP37_ENST00000553380.1_Missense_Mutation_p.G237R|ZFP37_ENST00000555206.1_Missense_Mutation_p.G223R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G222R(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGCTTTTTGCCTTTCCTTGTA	0.353																																																1	Substitution - Missense(1)	kidney(1)											242	238	239					9																	115806234		2203	4299	6502	SO:0001583	missense	7539			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.664G>C	9.37:g.115806234C>G	ENSP00000363344:p.Gly222Arg		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878725	0.02550	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05199	3.52;3.48;3.56	4.43	-2.53	0.06326	.	2.083720	0.02364	N	0.077210	T	0.02418	0.0074	N	0.01668	-0.77	0.09310	N	1	B;B;B	0.30973	0.302;0.302;0.201	B;B;B	0.24701	0.055;0.055;0.025	T	0.34279	-0.9835	10	0.44086	T	0.13	1.7353	5.4266	0.16429	0.0:0.3027:0.1564:0.5409	.	223;237;222	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	R	222;223;237	ENSP00000363344:G222R;ENSP00000451310:G223R;ENSP00000452552:G237R	ENSP00000363344:G222R	G	-	1	0	ZFP37	114846055	0.000000	0.05858	0.017000	0.16124	0.009000	0.06853	-1.763000	0.01802	-0.479000	0.06813	-0.345000	0.07892	GGC		0.353	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		G	115806234	C	G	115806234	3	3	108	1	0	0	0	0	1	0	0	0	17653	681	24	4	1232	4	ZFP37	9	115806234	Missense_Mutation	SNP	C	TCGA-AK-3455-01A-01D-0966-08		115806234	25407197	39	6780											
FCN1	2219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	137805435	137805435	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr9:137805435C>G	ENST00000371806.3	-	5	423	c.332G>C	c.(331-333)tGt>tCt	p.C111S		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	111	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.C111S(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		ACCTGTCGCACACGACTGAGA	0.592																																																1	Substitution - Missense(1)	kidney(1)											111	78	89					9																	137805435		2203	4300	6503	SO:0001583	missense	2219			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.332G>C	9.37:g.137805435C>G	ENSP00000360871:p.Cys111Ser		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	5.244	0.230570	0.09969	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.93076	-3.16	2.77	2.77	0.32553	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	D	0.90762	0.7100	M	0.80982	2.52	0.09310	N	1	B	0.26635	0.155	B	0.17722	0.019	T	0.78922	-0.2013	9	0.10111	T	0.7	.	9.1877	0.37180	0.0:1.0:0.0:0.0	.	111	O00602	FCN1_HUMAN	S	111;111;99	ENSP00000360871:C111S	ENSP00000308877:C99S	C	-	2	0	FCN1	136945256	0.043000	0.20138	0.015000	0.15790	0.008000	0.06430	1.334000	0.33827	1.860000	0.53959	0.478000	0.44815	TGT		0.592	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		G	137805435	C	G	137805435	3	3	108	1	0	0	0	0	1	0	0	0	5793	478	17	4	668	4	FCN1	9	137805435	Missense_Mutation	SNP	C	TCGA-AK-3455-01A-01D-0966-08	21999201	137805435	3407996	40	6781											
CAMK2G	818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75612974	75612974	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr10:75612974C>G	ENST00000351293.3	-	4	308	c.251G>C	c.(250-252)gGg>gCg	p.G84A	CAMK2G_ENST00000372765.1_Missense_Mutation_p.G84A|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Missense_Mutation_p.G84A|CAMK2G_ENST00000322635.3_Missense_Mutation_p.G84A|CAMK2G_ENST00000322680.3_Missense_Mutation_p.G84A|CAMK2G_ENST00000472912.1_Intron|CAMK2G_ENST00000305762.7_Missense_Mutation_p.G84A|CAMK2G_ENST00000423381.1_Missense_Mutation_p.G84A	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.G84A(2)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	GTAGTGAAACCCTTCTTCAGA	0.493																																																2	Substitution - Missense(2)	kidney(2)											128	114	119					10																	75612974		2203	4300	6503	SO:0001583	missense	818			U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.251G>C	10.37:g.75612974C>G	ENSP00000277853:p.Gly84Ala		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000351293.3	37	CCDS7336.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021229	0.93462	.	.	ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000433289;ENST00000305762;ENST00000372765	T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	N	0.12611	0.24	0.80722	D	1	D;B;D;P;P;P;B;D	0.89917	0.97;0.185;1.0;0.7;0.722;0.879;0.148;0.992	P;B;D;B;B;P;B;P	0.97110	0.749;0.168;1.0;0.278;0.399;0.729;0.064;0.869	T	0.36625	-0.9740	10	0.56958	D	0.05	.	19.7229	0.96150	0.0:1.0:0.0:0.0	.	76;84;84;84;84;84;84;84	B3KY86;Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8	.;.;.;.;.;KCC2G_HUMAN;.;.	A	84;84;84;84;84;84;19;84;84	ENSP00000277853:G84A;ENSP00000315599:G84A;ENSP00000410298:G84A;ENSP00000319060:G84A;ENSP00000378243:G84A;ENSP00000393784:G19A;ENSP00000307082:G84A;ENSP00000361851:G84A	ENSP00000307082:G84A	G	-	2	0	CAMK2G	75282980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.799000	0.69101	2.768000	0.95171	0.561000	0.74099	GGG		0.493	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1	NM_172169		G	75612974	C	G	75612974	3	3	108	1	0	0	0	0	1	0	0	0	2604	623	22	4	1591	4	CAMK2G	10	75612974	Missense_Mutation	SNP	C	TCGA-AK-3455-01A-01D-0966-08		75612974	59921773	41	6782											
KCNQ1	3784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	2606466	2606466	+	Silent	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr11:2606466C>T	ENST00000155840.5	+	8	1165	c.1057C>T	c.(1057-1059)Ctg>Ttg	p.L353L	KCNQ1_ENST00000335475.5_Silent_p.L226L	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	353			L -> P (in LQT1). {ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:9693036}.		atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.L353L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGGGTTTGCCCTGAAGGTGCA	0.632																																																1	Substitution - coding silent(1)	kidney(1)											112	105	108					11																	2606466		2202	4299	6501	SO:0001819	synonymous_variant	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1057C>T	11.37:g.2606466C>T			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	37	CCDS7736.1																																																																																				0.632	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		T	2606466	C	T	2606466	2	4	108	1	0	0	0	0	0	0	0	1	8084	680	24	2		2	KCNQ1	11	2606466	Silent	SNP	C	TCGA-AK-3455-01A-01D-0966-08		2606466	132400050	42	6783											
DCDC1	341019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	31327871	31327871	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr11:31327871G>T	ENST00000452803.1	-	5	700	c.499C>A	c.(499-501)Cac>Aac	p.H167N	DCDC1_ENST00000597505.1_Missense_Mutation_p.H167N|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	167					intracellular signal transduction (GO:0035556)			p.H167N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGAAGTTTGTGTCTTTGAGAC	0.378																																																1	Substitution - Missense(1)	kidney(1)											113	109	110					11																	31327871		2202	4299	6501	SO:0001583	missense	341019			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.499C>A	11.37:g.31327871G>T	ENSP00000389792:p.His167Asn		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620349	0.28801	.	.	ENSG00000188682	ENST00000452803	D	0.93019	-3.15	5.95	-1.82	0.07857	Doublecortin domain (1);	1.403820	0.04407	N	0.365375	D	0.87819	0.6273	L	0.51422	1.61	0.09310	N	1	B	0.28178	0.202	B	0.21917	0.037	T	0.72447	-0.4291	10	0.30078	T	0.28	.	0.8975	0.01266	0.2839:0.0994:0.3087:0.3079	.	167	P59894	DCDC1_HUMAN	N	167	ENSP00000389792:H167N	ENSP00000343496:H167N	H	-	1	0	DCDC1	31284447	0.996000	0.38824	0.270000	0.24601	0.978000	0.69477	0.297000	0.19101	0.022000	0.15160	0.650000	0.86243	CAC		0.378	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		T	31327871	G	T	31327871	3	4	108	1	0	0	0	0	1	0	0	0	4286	1377	48	4	585	4	DCDC1	11	31327871	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	28721405	31327871	103678645	43	6784											
ZNF408	79797	hgsc.bcm.edu;ucsc.edu	37	11	46726914	46726914	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr11:46726914delT	ENST00000311764.2	+	5	1894	c.1664delT	c.(1663-1665)gtgfs	p.V555fs		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGTGCCCGGTGTGTGGCAAG	0.667																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)											0													30	26	27					11																	46726914		2200	4294	6494	SO:0001589	frameshift_variant	79797			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1664delT	11.37:g.46726914delT	ENSP00000309606:p.Val555fs			Frame_Shift_Del	DEL	ENST00000311764.2	37	CCDS7923.1																																																																																				0.667	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		-	46726914	T	-	46726914	7	5	108	1	0	1	0	1	0	0	0	0	17893	1696	59	0	1714	0	ZNF408	11	46726914	Frame_Shift_Del	DEL	T	TCGA-AK-3455-01A-01D-0966-08	15399043	46726914	88279602	44	6785											
LRP4	4038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46916747	46916747	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr11:46916747G>A	ENST00000378623.1	-	11	1521	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	427	EGF-like 2; calcium-binding. {ECO:0000255}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.R427W(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGGTCGGGCCGTAGTTCATAG	0.612																																																1	Substitution - Missense(1)	kidney(1)											90	84	86					11																	46916747		2201	4299	6500	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1279C>T	11.37:g.46916747G>A	ENSP00000367888:p.Arg427Trp		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069749	0.76301	.	.	ENSG00000134569	ENST00000378623	D	0.87412	-2.25	5.71	3.68	0.42216	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);	0.123714	0.53938	D	0.000042	D	0.91740	0.7388	M	0.67569	2.06	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.92600	0.6090	10	0.72032	D	0.01	.	14.3589	0.66757	0.0:0.0:0.7308:0.2692	.	427	O75096	LRP4_HUMAN	W	427	ENSP00000367888:R427W	ENSP00000367888:R427W	R	-	1	2	LRP4	46873323	1.000000	0.71417	0.875000	0.34327	0.739000	0.42172	3.053000	0.49901	1.360000	0.45960	0.655000	0.94253	CGG		0.612	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46916747	G	A	46916747	3	1	108	1	0	0	0	0	1	0	0	0	8961	1144	40	1	4550	1	LRP4	11	46916747	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	189833	46916747	88089769	45	6786											
RTN3	10313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63487838	63487838	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr11:63487838G>A	ENST00000377819.5	+	3	2018	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K	RTN3_ENST00000339997.4_Missense_Mutation_p.E603K|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.E510K|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	622					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E603K(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGTTTTTAATGAGACAGAATT	0.383																																																1	Substitution - Missense(1)	kidney(1)											71	77	75					11																	63487838		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1864G>A	11.37:g.63487838G>A	ENSP00000367050:p.Glu622Lys		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396028	0.42512	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.25912	1.77;1.77;1.79	5.42	2.54	0.30619	.	0.552403	0.13939	N	0.352313	T	0.17109	0.0411	L	0.29908	0.895	0.09310	N	0.999996	P;P;P	0.42296	0.775;0.666;0.775	B;B;B	0.39660	0.306;0.162;0.306	T	0.10019	-1.0648	10	0.27785	T	0.31	0.4031	7.5293	0.27674	0.2698:0.0:0.7302:0.0	.	510;622;603	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	K	622;603;510	ENSP00000367050:E622K;ENSP00000344106:E603K;ENSP00000442733:E510K	ENSP00000344106:E603K	E	+	1	0	RTN3	63244414	0.810000	0.29049	0.012000	0.15200	0.666000	0.39218	1.913000	0.39956	0.360000	0.24265	0.561000	0.74099	GAG		0.383	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		A	63487838	G	A	63487838	3	1	108	1	0	0	0	0	1	0	0	0	13733	1291	45	2	1874	2	RTN3	11	63487838	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	16571091	63487838	71518678	46	6787											
AGAP2	116986	hgsc.bcm.edu;ucsc.edu	37	12	58126199	58126199	+	Missense_Mutation	SNP	G	G	A	rs138992134		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr12:58126199G>A	ENST00000547588.1	-	7	1780	c.1781C>T	c.(1780-1782)cCg>cTg	p.P594L	AGAP2_ENST00000257897.3_Missense_Mutation_p.P258L	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	594					axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCCAGCTACCGGAGTGGATGC	0.612																																																0													27	23	24					12																	58126199		2202	4299	6501	SO:0001583	missense	116986			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1781C>T	12.37:g.58126199G>A	ENSP00000449241:p.Pro594Leu		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228487	0.58777	.	.	ENSG00000135439	ENST00000257897;ENST00000547588	T;T	0.28454	1.61;1.61	5.06	4.15	0.48705	.	0.065645	0.64402	D	0.000009	T	0.28962	0.0719	L	0.46157	1.445	0.80722	D	1	P;P;P	0.50710	0.938;0.608;0.669	B;B;B	0.43052	0.406;0.18;0.195	T	0.05022	-1.0911	10	0.51188	T	0.08	.	12.1994	0.54315	0.0853:0.0:0.9147:0.0	.	258;594;594	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	L	258;594	ENSP00000257897:P258L;ENSP00000449241:P594L	ENSP00000257897:P258L	P	-	2	0	AGAP2	56412466	1.000000	0.71417	0.994000	0.49952	0.860000	0.49131	4.914000	0.63348	2.532000	0.85374	0.655000	0.94253	CCG		0.612	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		A	58126199	G	A	58126199	3	1	108	1	0	0	0	0	1	0	0	0	368	1116	39	1	1849	1	AGAP2	12	58126199	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08		58126199	75725696	47	6788											
SLITRK6	84189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	86368512	86368512	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr13:86368512C>T	ENST00000400286.2	-	2	2730	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	711					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.G711E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCATCACTTCCTTCTTTCTC	0.413																																																1	Substitution - Missense(1)	kidney(1)											279	271	274					13																	86368512		1900	4115	6015	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2132G>A	13.37:g.86368512C>T	ENSP00000383143:p.Gly711Glu		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	5.786	0.329427	0.10956	.	.	ENSG00000184564	ENST00000400286	T	0.55760	0.5	5.84	5.0	0.66597	.	0.640752	0.14004	U	0.347883	T	0.27027	0.0662	N	0.08118	0	0.34482	D	0.703955	B	0.09022	0.002	B	0.06405	0.002	T	0.28202	-1.0051	10	0.08179	T	0.78	-11.6167	6.5901	0.22642	0.0:0.6958:0.1484:0.1558	.	711	Q9H5Y7	SLIK6_HUMAN	E	711	ENSP00000383143:G711E	ENSP00000383143:G711E	G	-	2	0	SLITRK6	85266513	0.000000	0.05858	0.948000	0.38648	0.655000	0.38815	0.333000	0.19768	1.475000	0.48197	0.655000	0.94253	GGA		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		T	86368512	C	T	86368512	3	4	108	1	0	0	0	0	1	0	0	0	14753	855	30	2	397	2	SLITRK6	13	86368512	Missense_Mutation	SNP	C	TCGA-AK-3455-01A-01D-0966-08		86368512	28801366	48	6789											
GABRA5	2558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	27193284	27193284	+	Silent	SNP	C	C	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr15:27193284C>A	ENST00000335625.5	+	11	2181	c.1293C>A	c.(1291-1293)atC>atA	p.I431I	GABRA5_ENST00000400081.3_Silent_p.I431I|GABRA5_ENST00000355395.5_Silent_p.I431I	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	431					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.I431I(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TGTCCCGAATCGTATTCCCAG	0.428																																																2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											43	41	41					15																	27193284		1835	4096	5931	SO:0001819	synonymous_variant	2558				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1293C>A	15.37:g.27193284C>A			A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	CCDS45194.1																																																																																				0.428	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			A	27193284	C	A	27193284	2	1	108	1	0	0	0	0	0	0	0	1	6166	874	31	4		4	GABRA5	15	27193284	Silent	SNP	C	TCGA-AK-3455-01A-01D-0966-08		27193284	75338108	49	6790											
VPS39	23339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42479524	42479524	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr15:42479524G>A	ENST00000348544.4	-	8	511	c.512C>T	c.(511-513)gCg>gTg	p.A171V	VPS39_ENST00000318006.5_Missense_Mutation_p.A160V			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	171	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.A160V(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTCACACCACGCCATGGACTT	0.353																																																1	Substitution - Missense(1)	kidney(1)											81	80	80					15																	42479524		2203	4299	6502	SO:0001583	missense	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.512C>T	15.37:g.42479524G>A	ENSP00000335193:p.Ala171Val		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419551	0.83559	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.20738	2.05;2.05	5.95	5.95	0.96441	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	L	0.54323	1.7	0.80722	D	1	P;P	0.43024	0.798;0.76	B;B	0.37888	0.26;0.169	T	0.01312	-1.1388	10	0.28530	T	0.3	-12.3934	20.3931	0.98965	0.0:0.0:1.0:0.0	.	171;160	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	V	160;171	ENSP00000326534:A160V;ENSP00000335193:A171V	ENSP00000326534:A160V	A	-	2	0	VPS39	40266816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.824000	0.97209	0.655000	0.94253	GCG		0.353	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		A	42479524	G	A	42479524	3	1	108	1	0	0	0	0	1	0	0	0	17214	1087	38	1	2224	1	VPS39	15	42479524	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	15286240	42479524	60051868	50	6791											
TGM7	116179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43571460	43571460	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr15:43571460A>C	ENST00000452443.2	-	11	1698	c.1694T>G	c.(1693-1695)cTc>cGc	p.L565R		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	565					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.L565R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGGCAGGAGGAGCGGCCACTG	0.517																																																1	Substitution - Missense(1)	kidney(1)											67	59	61					15																	43571460		2202	4299	6501	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1694T>G	15.37:g.43571460A>C	ENSP00000389466:p.Leu565Arg			Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646654	0.67358	.	.	ENSG00000159495	ENST00000452443	T	0.35789	1.29	5.42	5.42	0.78866	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.415847	0.24917	N	0.034580	T	0.46889	0.1416	L	0.60455	1.87	0.09310	N	1	D	0.61080	0.989	P	0.53450	0.726	T	0.45818	-0.9235	10	0.62326	D	0.03	-13.5813	11.888	0.52613	1.0:0.0:0.0:0.0	.	565	Q96PF1	TGM7_HUMAN	R	565	ENSP00000389466:L565R	ENSP00000389466:L565R	L	-	2	0	TGM7	41358752	0.949000	0.32298	0.887000	0.34795	0.911000	0.54048	5.387000	0.66243	2.058000	0.61347	0.533000	0.62120	CTC		0.517	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		C	43571460	A	C	43571460	3	2	108	1	0	0	0	0	1	0	0	0	15840	304	11	5	450	5	TGM7	15	43571460	Missense_Mutation	SNP	A	TCGA-AK-3455-01A-01D-0966-08	1091936	43571460	58959932	51	6792											
MAN2C1	4123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75655087	75655087	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr15:75655087A>G	ENST00000267978.5	-	7	839	c.793T>C	c.(793-795)Tgg>Cgg	p.W265R	MAN2C1_ENST00000565683.1_Missense_Mutation_p.W265R|MAN2C1_ENST00000569482.1_Missense_Mutation_p.W265R|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000563622.1_Intron	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	265					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.W265R(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGCCAAAGCCAGGCTATACGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											53	53	53					15																	75655087		2197	4294	6491	SO:0001583	missense	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.793T>C	15.37:g.75655087A>G	ENSP00000267978:p.Trp265Arg		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.711761	0.89112	.	.	ENSG00000140400	ENST00000267978	D	0.92595	-3.07	5.56	5.56	0.83823	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	D	0.97548	0.9197	H	0.97214	3.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98903	1.0777	10	0.87932	D	0	-16.3057	14.8832	0.70547	1.0:0.0:0.0:0.0	.	47;265;265	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	R	265	ENSP00000267978:W265R	ENSP00000267978:W265R	W	-	1	0	MAN2C1	73442140	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.812000	0.91959	2.110000	0.64415	0.459000	0.35465	TGG		0.627	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			G	75655087	A	G	75655087	3	3	108	1	0	0	0	0	1	0	0	0	9220	188	7	3	2409	3	MAN2C1	15	75655087	Missense_Mutation	SNP	A	TCGA-AK-3455-01A-01D-0966-08	32083627	75655087	26876305	52	6793											
ZNF646	9726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31094339	31094339	+	3'UTR	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr16:31094339C>G	ENST00000394979.2	+	0	7117				ZNF646_ENST00000300850.5_Missense_Mutation_p.P1809A			O15015	ZN646_HUMAN	zinc finger protein 646						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1809A(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCCATTGCCCCCTCCACCCAC	0.632																																																1	Substitution - Missense(1)	kidney(1)											42	37	39					16																	31094339		2197	4300	6497	SO:0001624	3_prime_UTR_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.*1204C>G	16.37:g.31094339C>G			Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	C	11.73	1.726414	0.30593	.	.	ENSG00000167395	ENST00000300850	T	0.09163	3.01	5.21	4.25	0.50352	.	.	.	.	.	T	0.10809	0.0264	.	.	.	0.80722	D	1	B	0.33612	0.419	B	0.38500	0.275	T	0.12243	-1.0555	8	0.34782	T	0.22	-1.3055	10.0719	0.42339	0.0:0.9042:0.0:0.0958	.	1809	O15015-2	.	A	1809	ENSP00000300850:P1809A	ENSP00000300850:P1809A	P	+	1	0	ZNF646	31001840	0.002000	0.14202	0.831000	0.32960	0.878000	0.50629	0.398000	0.20899	2.434000	0.82447	0.655000	0.94253	CCT		0.632	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		G	31094339	C	G	31094339	1	3	108	0	1	0	0	0	0	0	0	0	18067	623	22	4		4	ZNF646	16	31094339	3'UTR	SNP	C	TCGA-AK-3455-01A-01D-0966-08		31094339	59260414	53	6794											
ALOXE3	59344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8021249	8021249	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:8021249G>T	ENST00000448843.2	-	2	400	c.60C>A	c.(58-60)gaC>gaA	p.D20E	ALOXE3_ENST00000380149.1_Missense_Mutation_p.D176E|ALOXE3_ENST00000318227.3_Missense_Mutation_p.D152E	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	20	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.D152E(1)|p.D20E(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGAGATGTTGTCCAGTGTGC	0.617																																																2	Substitution - Missense(2)	kidney(2)											56	39	45					17																	8021249		2203	4300	6503	SO:0001583	missense	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.60C>A	17.37:g.8021249G>T	ENSP00000400581:p.Asp20Glu		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440363	0.83993	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.23754	1.89;1.89;1.89	4.95	1.31	0.21738	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.205401	0.49916	D	0.000125	T	0.50120	0.1597	M	0.85197	2.74	0.36246	D	0.853618	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.79108	0.95;0.992;0.992	T	0.62348	-0.6873	10	0.87932	D	0	-26.5548	10.2624	0.43434	0.2745:0.0:0.7255:0.0	.	152;20;20	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	E	176;152;20	ENSP00000369494:D176E;ENSP00000314879:D152E;ENSP00000400581:D20E	ENSP00000314879:D152E	D	-	3	2	ALOXE3	7961974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.677000	0.46892	0.469000	0.27268	0.561000	0.74099	GAC		0.617	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			T	8021249	G	T	8021249	3	4	108	1	0	0	0	0	1	0	0	0	542	1368	48	4	2135	4	ALOXE3	17	8021249	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08		8021249	73173961	54	6795											
MFSD6L	162387	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8701942	8701942	+	Missense_Mutation	SNP	C	C	T	rs377452108		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:8701942C>T	ENST00000329805.4	-	1	725	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	166						integral component of membrane (GO:0016021)		p.R166H(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GTGCAGATCACGGAAAGTTTC	0.567																																																1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG	0,4406		0,0,2203	114	111	112		497	-1.5	0	17		112	2,8598	2.2+/-6.3	0,2,4298	no	missense	MFSD6L	NM_152599.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	166/587	8701942	2,13004	2203	4300	6503	SO:0001583	missense	162387			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.497G>A	17.37:g.8701942C>T	ENSP00000330051:p.Arg166His		Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102542	0.37145	0.0	2.33E-4	ENSG00000185156	ENST00000329805	T	0.45276	0.9	4.59	-1.48	0.08745	.	1.595440	0.03579	N	0.229768	T	0.26376	0.0644	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18053	-1.0349	10	0.45353	T	0.12	-16.0297	2.0299	0.03527	0.1175:0.3826:0.2538:0.2461	.	166	Q8IWD5	MFS6L_HUMAN	H	166	ENSP00000330051:R166H	ENSP00000330051:R166H	R	-	2	0	MFSD6L	8642667	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.213000	0.09305	-0.052000	0.13311	0.655000	0.94253	CGT		0.567	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		T	8701942	C	T	8701942	3	4	108	1	0	0	0	0	1	0	0	0	9538	536	19	1	1267	1	MFSD6L	17	8701942	Missense_Mutation	SNP	C	TCGA-AK-3455-01A-01D-0966-08	680693	8701942	72493268	55	6796											
TEX14	56155	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56638955	56638955	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:56638955A>C	ENST00000240361.8	-	30	4306	c.4221T>G	c.(4219-4221)gaT>gaG	p.D1407E	TEX14_ENST00000349033.5_Missense_Mutation_p.D1361E|TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000389934.3_Missense_Mutation_p.D1401E			Q8IWB6	TEX14_HUMAN	testis expressed 14	1407					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.D1407E(1)|p.D1361E(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGTCCTCATCCAGAGTAG	0.488																																																2	Substitution - Missense(2)	kidney(2)											127	122	123					17																	56638955		2203	4300	6503	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4221T>G	17.37:g.56638955A>C	ENSP00000240361:p.Asp1407Glu		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.686215	0.68157	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.28666	1.6;1.6;1.6	5.09	2.89	0.33648	.	0.000000	0.64402	D	0.000015	T	0.46795	0.1411	M	0.63843	1.955	0.26451	N	0.975619	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.997;0.998	T	0.30090	-0.9990	10	0.87932	D	0	-12.3663	6.4301	0.21792	0.8092:0.0:0.1908:0.0	.	1407;1361;1401	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	E	1407;1401;1361	ENSP00000240361:D1407E;ENSP00000374584:D1401E;ENSP00000268910:D1361E	ENSP00000240361:D1407E	D	-	3	2	TEX14	53993954	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.978000	0.40598	0.428000	0.26173	0.533000	0.62120	GAT		0.488	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			C	56638955	A	C	56638955	3	2	108	1	0	0	0	0	1	0	0	0	15783	214	8	5	288	5	TEX14	17	56638955	Missense_Mutation	SNP	A	TCGA-AK-3455-01A-01D-0966-08	47937013	56638955	24556255	56	6797											
MED13	9969	hgsc.bcm.edu;ucsc.edu	37	17	60039068	60039073	+	In_Frame_Del	DEL	ATTTTA	ATTTTA	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	ATTTTA	ATTTTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:60039068_60039073delATTTTA	ENST00000397786.2	-	22	5208_5213	c.5132_5137delTAAAAT	c.(5131-5139)ttaaaatcc>tcc	p.LK1711del		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1711					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAAGCCAGGGATTTTAAATGCTGGGG	0.413																																																0																																										SO:0001651	inframe_deletion	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5132_5137delTAAAAT	17.37:g.60039068_60039073delATTTTA	ENSP00000380888:p.Leu1711_Lys1712del		B2RU05|O60334	In_Frame_Del	DEL	ENST00000397786.2	37	CCDS42366.1																																																																																				0.413	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		-	60039073	ATTTTA	-	60039068	7	5	108	1	0	1	0	1	0	0	0	0	9432	333	12	0	1423	0	MED13	17	60039068	In_Frame_Del	DEL	ATTTTA	TCGA-AK-3455-01A-01D-0966-08	3400113	60039068	21156142	57	6798											
KCNJ2	3759	broad.mit.edu;ucsc.edu	37	17	68171679	68171679	+	Missense_Mutation	SNP	G	G	A	rs140147979		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:68171679G>A	ENST00000243457.3	+	2	882	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V167M	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	167					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.V167M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CCAGTCAATCGTGGGCTGCAT	0.483																																																1	Substitution - Missense(1)	kidney(1)						G	MET/VAL	0,4406		0,0,2203	184	166	172		499	6	1	17	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNJ2	NM_000891.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	167/428	68171679	1,13005	2203	4300	6503	SO:0001583	missense	3759			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.499G>A	17.37:g.68171679G>A	ENSP00000243457:p.Val167Met		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693140	0.48202	0.0	1.16E-4	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95001	-3.58;-3.58	5.96	5.96	0.96718	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.91971	0.7457	L	0.60455	1.87	0.80722	D	1	P	0.42993	0.797	B	0.31016	0.123	D	0.91123	0.4931	9	.	.	.	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	167	P63252	IRK2_HUMAN	M	167	ENSP00000441848:V167M;ENSP00000243457:V167M	.	V	+	1	0	KCNJ2	65683274	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.869000	0.99810	2.823000	0.97156	0.650000	0.86243	GTG		0.483	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		A	68171679	G	A	68171679	3	1	108	1	0	0	0	0	1	0	0	0	8053	1145	40	1	501	1	KCNJ2	17	68171679	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	8132611	68171679	13023531	58	6799											
METRNL	284207	hgsc.bcm.edu	37	17	81043052	81043053	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:81043052_81043053insG	ENST00000320095.7	+	2	534_535	c.409_410insG	c.(409-411)aggfs	p.R137fs	METRNL_ENST00000571814.1_Frame_Shift_Ins_p.R55fs|METRNL_ENST00000570778.1_Frame_Shift_Ins_p.R55fs	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	137					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CGGGGACGGCAGGCCCGGCCGG	0.619																																																0																																										SO:0001589	frameshift_variant	284207			AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.411dupG	17.37:g.81043054_81043054dupG	ENSP00000315731:p.Arg137fs		B3KSJ5|Q86VM0	Frame_Shift_Ins	INS	ENST00000320095.7	37	CCDS32779.1																																																																																				0.619	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		G	81043053	-	G	81043052	7	5	108	1	0	1	1	0	0	0	0	0	9491	179	7	0	415	0	METRNL	17	81043052	Frame_Shift_Ins	INS	-	TCGA-AK-3455-01A-01D-0966-08	12871373	81043052	152158	59	6800											
AQP4	361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	24436385	24436385	+	Silent	SNP	T	T	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr18:24436385T>A	ENST00000383168.4	-	5	890	c.762A>T	c.(760-762)ccA>ccT	p.P254P	AQP4_ENST00000581374.1_Silent_p.P232P|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Silent_p.P232P|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	254					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.P254P(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					ATTCAACATCTGGACAGAAGA	0.458																																																1	Substitution - coding silent(1)	kidney(1)											133	125	128					18																	24436385		2203	4300	6503	SO:0001819	synonymous_variant	361			U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.762A>T	18.37:g.24436385T>A			P78564	Silent	SNP	ENST00000383168.4	37	CCDS11889.1																																																																																				0.458	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		A	24436385	T	A	24436385	2	1	108	1	0	0	0	0	0	0	0	1	828	1567	55	5		5	AQP4	18	24436385	Silent	SNP	T	TCGA-AK-3455-01A-01D-0966-08		24436385	53640863	60	6801											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9064631	9064631	+	Silent	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr19:9064631G>A	ENST00000397910.4	-	3	23018	c.22815C>T	c.(22813-22815)ccC>ccT	p.P7605P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7607	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P7605P(2)|p.P3238P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGAAATCCTGGGGATGGTTC	0.483																																																3	Substitution - coding silent(3)	kidney(3)											96	91	93					19																	9064631		1960	4159	6119	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22815C>T	19.37:g.9064631G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9064631	G	A	9064631	2	1	108	1	0	0	0	0	0	0	0	1	9975	1335	47	2		2	MUC16	19	9064631	Silent	SNP	G	TCGA-AK-3455-01A-01D-0966-08		9064631	50064352	61	6802											
NLRP8	126205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56473595	56473595	+	Silent	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr19:56473595A>G	ENST00000291971.3	+	4	2276	c.2205A>G	c.(2203-2205)caA>caG	p.Q735Q	NLRP8_ENST00000590542.1_Silent_p.Q735Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	735					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.Q735Q(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCAAACTGCAAAAGCTACTGT	0.483																																																1	Substitution - coding silent(1)	kidney(1)											80	71	74					19																	56473595		2203	4300	6503	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2205A>G	19.37:g.56473595A>G			Q7RTR4	Silent	SNP	ENST00000291971.3	37	CCDS12937.1																																																																																				0.483	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		G	56473595	A	G	56473595	2	3	108	1	0	0	0	0	0	0	0	1	10485	11	1	3		3	NLRP8	19	56473595	Silent	SNP	A	TCGA-AK-3455-01A-01D-0966-08	47408964	56473595	2655388	62	6803											
ZNF805	390980	broad.mit.edu	37	19	57764639	57764639	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr19:57764639C>G	ENST00000414468.2	+	4	452	c.452C>G	c.(451-453)cCt>cGt	p.P151R	ZNF805_ENST00000354309.4_Missense_Mutation_p.P18R|ZNF805_ENST00000535550.1_Missense_Mutation_p.P18R	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P151R(1)		breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GAGAAGCTTCCTGGAAAAATG	0.488																																																1	Substitution - Missense(1)	kidney(1)											160	142	147					19																	57764639		692	1591	2283	SO:0001583	missense	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.452C>G	19.37:g.57764639C>G	ENSP00000412999:p.Pro151Arg		B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525386	0.27299	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.24350	1.86;1.86;1.86	4.06	0.658	0.17855	.	.	.	.	.	T	0.19287	0.0463	L	0.57536	1.79	0.09310	N	1	P	0.48230	0.907	B	0.36885	0.235	T	0.19257	-1.0311	9	0.66056	D	0.02	.	4.0754	0.09901	0.0:0.5871:0.1955:0.2174	.	151	Q5CZA5	ZN805_HUMAN	R	18;151;18	ENSP00000440067:P18R;ENSP00000412999:P151R;ENSP00000365414:P18R	ENSP00000365414:P18R	P	+	2	0	ZNF805	62456451	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-0.086000	0.11233	0.246000	0.21394	0.591000	0.81541	CCT		0.488	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		G	57764639	C	G	57764639	3	3	108	1	0	0	0	0	1	0	0	0	18177	681	24	4	466	4	ZNF805	19	57764639	Missense_Mutation	SNP	C	TCGA-AK-3455-01A-01D-0966-08	1291044	57764639	1364344	63	6804											
SAMHD1	25939	hgsc.bcm.edu;ucsc.edu	37	20	35563478	35563478	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr20:35563478delA	ENST00000262878.4	-	4	662	c.463delT	c.(463-465)tatfs	p.Y155fs	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	155					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GGAAAAACATAGTAACCACCT	0.448																																																0													129	119	123					20																	35563478		2203	4300	6503	SO:0001589	frameshift_variant	25939			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.463delT	20.37:g.35563478delA	ENSP00000262878:p.Tyr155fs		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Frame_Shift_Del	DEL	ENST00000262878.4	37	CCDS13288.1																																																																																				0.448	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		-	35563478	A	-	35563478	7	5	108	1	0	1	0	1	0	0	0	0	13834	420	15	0	1469	0	SAMHD1	20	35563478	Frame_Shift_Del	DEL	A	TCGA-AK-3455-01A-01D-0966-08		35563478	27462042	64	6805											
OGFR	11054	broad.mit.edu;hgsc.bcm.edu	37	20	61444100	61444100	+	Missense_Mutation	SNP	G	G	T	rs6122312		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr20:61444100G>T	ENST00000290291.6	+	7	1158	c.1133G>T	c.(1132-1134)aGc>aTc	p.S378I	OGFR_ENST00000370461.1_Missense_Mutation_p.S326I	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	378					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)	p.S378I(1)		endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GAGCCCTTAAGCCCCAAAGAG	0.677																																																1	Substitution - Missense(1)	kidney(1)											13	16	15					20																	61444100		2186	4286	6472	SO:0001583	missense	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1133G>T	20.37:g.61444100G>T	ENSP00000290291:p.Ser378Ile		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789065	0.31685	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.52295	1.56;0.67;1.06	4.98	1.84	0.25277	.	0.738645	0.13181	N	0.407502	T	0.36138	0.0956	L	0.54323	1.7	0.09310	N	1	P;P;P	0.35272	0.493;0.493;0.493	B;B;B	0.29785	0.107;0.107;0.107	T	0.28618	-1.0038	10	0.56958	D	0.05	-22.6341	4.5392	0.12049	0.3374:0.1589:0.5037:0.0	rs6122312	378;361;378	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	I	378;378;378;233;326	ENSP00000290291:S378I;ENSP00000359499:S378I;ENSP00000359491:S326I	ENSP00000290291:S378I	S	+	2	0	OGFR	60914545	0.015000	0.18098	0.791000	0.31998	0.081000	0.17604	0.269000	0.18589	0.438000	0.26450	0.555000	0.69702	AGC		0.677	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			T	61444100	G	T	61444100	3	4	108	1	0	0	0	0	1	0	0	0	10845	971	34	4	1159	4	OGFR	20	61444100	Missense_Mutation	SNP	G	TCGA-AK-3455-01A-01D-0966-08	25880622	61444100	1581420	65	6806											
SMARCB1	6598	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24175874	24175874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr22:24175874C>T	ENST00000263121.7	+	8	1298	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	SMARCB1_ENST00000407422.3_Nonsense_Mutation_p.Q359*|SMARCB1_ENST00000344921.6_Nonsense_Mutation_p.Q377*|SMARCB1_ENST00000407082.3_Nonsense_Mutation_p.Q322*|DERL3_ENST00000464023.1_5'Flank	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	368					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.Q368*(2)|p.Q377*(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GATCCGCGACCAGGACAGGAA	0.622			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	6	Substitution - Nonsense(3)|Unknown(2)|Deletion - In frame(1)	central_nervous_system(3)|kidney(2)|haematopoietic_and_lymphoid_tissue(1)											122	105	111					22																	24175874		2203	4300	6503	SO:0001587	stop_gained	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1102C>T	22.37:g.24175874C>T	ENSP00000263121:p.Gln368*		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Nonsense_Mutation	SNP	ENST00000263121.7	37	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	38	6.783836	0.97837	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	.	.	.	4.76	4.76	0.60689	.	0.108664	0.64402	D	0.000004	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-31.4772	17.2148	0.86940	0.0:1.0:0.0:0.0	.	.	.	.	X	377;368;359;322	.	ENSP00000263121:Q368X	Q	+	1	0	SMARCB1	22505874	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.569000	0.82380	2.387000	0.81309	0.543000	0.68304	CAG		0.622	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		T	24175874	C	T	24175874	4	4	108	1	0	0	0	0	0	1	0	0	14780	595	21	2	1132	2	SMARCB1	22	24175874	Nonsense_Mutation	SNP	C	TCGA-AK-3455-01A-01D-0966-08		24175874	27128692	66	6807											
MAGEB16	139604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	35820494	35820494	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chrX:35820494C>T	ENST00000399989.1	+	2	460	c.181C>T	c.(181-183)Cct>Tct	p.P61S	MAGEB16_ENST00000399985.1_Missense_Mutation_p.P61S|MAGEB16_ENST00000399987.1_Missense_Mutation_p.P61S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.P93S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.P61S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	61								p.P228S(1)|p.P228T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGCAGAGAGTCCTCTTGAGGT	0.527																																																2	Substitution - Missense(2)	breast(1)|kidney(1)											47	45	46					X																	35820494		1956	4120	6076	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.181C>T	X.37:g.35820494C>T	ENSP00000382871:p.Pro61Ser		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.625394	0.00820	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53	3.13	-4.21	0.03812	Melanoma associated antigen, MAGE, N-terminal (1);	2.365020	0.01875	N	0.037498	T	0.03608	0.0103	N	0.20766	0.605	0.09310	N	1	B	0.24258	0.1	B	0.29077	0.098	T	0.33624	-0.9861	10	0.11182	T	0.66	.	0.1057	0.00052	0.2641:0.1709:0.2316:0.3333	.	61	A2A368	MAGBG_HUMAN	S	61;93;61;61;61	ENSP00000382870:P61S;ENSP00000382874:P93S;ENSP00000382869:P61S;ENSP00000382871:P61S;ENSP00000382867:P61S	ENSP00000382867:P61S	P	+	1	0	MAGEB16	35730415	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.679000	0.00838	-1.082000	0.03101	-2.341000	0.00245	CCT		0.527	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			T	35820494	C	T	35820494	3	4	108	1	0	0	0	0	1	0	0	0	9176	855	30	2	183	2	MAGEB16	23	35820494	Missense_Mutation	SNP	C	TCGA-AK-3455-01A-01D-0966-08		35820494	119450066	67	6808											
TAS1R3	83756	broad.mit.edu;hgsc.bcm.edu	37	1	1268924	1268924	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr1:1268924T>G	ENST00000339381.5	+	6	1671	c.1639T>G	c.(1639-1641)Tcc>Gcc	p.S547A		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	547					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGATGAGTGGTCCCCGGAGCG	0.647																																																0													50	57	54					1																	1268924		2202	4300	6502	SO:0001583	missense	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1639T>G	1.37:g.1268924T>G	ENSP00000344411:p.Ser547Ala		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.309484	0.40895	.	.	ENSG00000169962	ENST00000339381	D	0.90955	-2.76	4.16	4.16	0.48862	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	L	0.61387	1.9	0.33276	D	0.561688	D	0.69078	0.997	P	0.62298	0.9	D	0.92594	0.6085	10	0.52906	T	0.07	.	5.8202	0.18524	0.0:0.0878:0.1693:0.743	.	547	Q7RTX0	TS1R3_HUMAN	A	547	ENSP00000344411:S547A	ENSP00000344411:S547A	S	+	1	0	TAS1R3	1258787	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	2.971000	0.49248	1.768000	0.52137	0.374000	0.22700	TCC		0.647	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			G	1268924	T	G	1268924	3	3	109	1	0	0	0	0	1	0	0	0	15569	1667	58	5	1661	5	TAS1R3	1	1268924	Missense_Mutation	SNP	T	TCGA-AK-3456-01A-02D-1386-10		1268924	247981697	1	6809											
CTSK	1513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150778608	150778608	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr1:150778608A>T	ENST00000271651.3	-	3	323	c.213T>A	c.(211-213)taT>taA	p.Y71*	CTSK_ENST00000480670.1_Intron	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	71					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAGCCAGTTCATATGTATGGA	0.458																																																0													92	88	89					1																	150778608		2203	4300	6503	SO:0001587	stop_gained	1513			BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"Cathepsins"	2536	protein-coding gene	gene with protein product		601105	"cathepsin K (pycnodysostosis)"	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.213T>A	1.37:g.150778608A>T	ENSP00000271651:p.Tyr71*		Q6FHS6	Nonsense_Mutation	SNP	ENST00000271651.3	37	CCDS969.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839135	0.91117	.	.	ENSG00000143387	ENST00000271651;ENST00000443913	.	.	.	5.68	0.794	0.18638	.	0.120798	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1313	0.14911	0.62:0.1448:0.2352:0.0	.	.	.	.	X	71;130	.	ENSP00000271651:Y71X	Y	-	3	2	CTSK	149045232	0.003000	0.15002	0.999000	0.59377	0.994000	0.84299	1.070000	0.30653	0.098000	0.17522	0.459000	0.35465	TAT		0.458	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396		T	150778608	A	T	150778608	4	4	109	1	0	0	0	0	0	1	0	0	4039	224	8	5	800	5	CTSK	1	150778608	Nonsense_Mutation	SNP	A	TCGA-AK-3456-01A-02D-1386-10	149509684	150778608	98472013	2	6810											
COBLL1	22837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	165561492	165561493	+	Missense_Mutation	DNP	GC	GC	AA	rs138711091|rs149060063		TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr2:165561492_165561493GC>AA	ENST00000392717.2	-	8	1237_1238	c.1233_1234GC>TT	c.(1231-1236)ccGCat>ccTTat	p.H412Y	COBLL1_ENST00000375458.2_Missense_Mutation_p.H374Y|COBLL1_ENST00000409184.3_Missense_Mutation_p.H412Y|COBLL1_ENST00000194871.6_Missense_Mutation_p.H440Y|COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000342193.4_Missense_Mutation_p.H374Y			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	412						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						TCACTTTGATGCGGGGGTATTT	0.421																																																0																																										SO:0001583	missense	22837			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.1233_1234delinsAA	2.37:g.165561492_165561493delinsAA	ENSP00000376478:p.His412Tyr		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation|Silent	SNP	ENST00000392717.2	37																																																																																					0.421	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		AA	165561493	GC	AA	165561492	3	1	109	1	0	0	0	0	1	0	0	0	3656	1319	46	2	2412	2	COBLL1	2	165561492	Missense_Mutation	DNP	GC	TCGA-AK-3456-01A-02D-1386-10		165561492	77637881	3	6811											
NDUFS1	4719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	207011714	207011714	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr2:207011714T>G	ENST00000233190.6	-	8	916	c.650A>C	c.(649-651)gAa>gCa	p.E217A	NDUFS1_ENST00000423725.1_Missense_Mutation_p.E160A|NDUFS1_ENST00000457011.1_Missense_Mutation_p.E101A|NDUFS1_ENST00000440274.1_Missense_Mutation_p.E181A|NDUFS1_ENST00000449699.1_Missense_Mutation_p.E217A|NDUFS1_ENST00000432169.1_Missense_Mutation_p.E106A|NDUFS1_ENST00000455934.2_Missense_Mutation_p.E231A	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	217					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAGACAGTTCAGACATGAA	0.433																																																0													172	140	151					2																	207011714		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.650A>C	2.37:g.207011714T>G	ENSP00000233190:p.Glu217Ala		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359483	0.82353	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94493	0.8227	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.81914	0.995;0.967;0.967;0.967	D	0.95880	0.8898	10	0.87932	D	0	-24.731	15.9353	0.79698	0.0:0.0:0.0:1.0	.	106;181;231;217	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	A	217;160;101;181;231;217;106	ENSP00000233190:E217A;ENSP00000397760:E160A;ENSP00000400976:E101A;ENSP00000409766:E181A;ENSP00000392709:E231A;ENSP00000399912:E217A;ENSP00000409689:E106A	ENSP00000233190:E217A	E	-	2	0	NDUFS1	206719959	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	6.240000	0.72363	2.160000	0.67779	0.482000	0.46254	GAA		0.433	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		G	207011714	T	G	207011714	3	3	109	1	0	0	0	0	1	0	0	0	10293	1783	62	5	1581	5	NDUFS1	2	207011714	Missense_Mutation	SNP	T	TCGA-AK-3456-01A-02D-1386-10	41450222	207011714	36187659	4	6812											
SCN11A	11280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38888542	38888542	+	Silent	SNP	G	G	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr3:38888542G>T	ENST00000302328.3	-	26	5217	c.5019C>A	c.(5017-5019)ccC>ccA	p.P1673P	SCN11A_ENST00000456224.3_Silent_p.P1635P|SCN11A_ENST00000450244.1_Silent_p.P1673P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1673					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACTCACCATGGGCAAGTCCA	0.453																																																0													92	95	94					3																	38888542		2203	4300	6503	SO:0001819	synonymous_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5019C>A	3.37:g.38888542G>T			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	CCDS33737.1																																																																																				0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		T	38888542	G	T	38888542	2	4	109	1	0	0	0	0	0	0	0	1	13919	1335	47	4		4	SCN11A	3	38888542	Silent	SNP	G	TCGA-AK-3456-01A-02D-1386-10		38888542	159133888	5	6813											
KIAA2018	205717	hgsc.bcm.edu	37	3	113376125	113376125	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr3:113376125C>T	ENST00000478658.1	-	5	4421	c.4404G>A	c.(4402-4404)caG>caA	p.Q1468Q	KIAA2018_ENST00000316407.4_Silent_p.Q1468Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1468	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gctgctgctgctgctgctgct	0.498																																																0													53	63	60					3																	113376125		2180	4278	6458	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4404G>A	3.37:g.113376125C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																				0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113376125	C	T	113376125	2	4	109	1	0	0	0	0	0	0	0	1	8270	796	28	2		2	KIAA2018	3	113376125	Silent	SNP	C	TCGA-AK-3456-01A-02D-1386-10	74487583	113376125	84646305	6	6814											
ATP8A1	10396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	42509034	42509034	+	Splice_Site	SNP	G	G	A			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr4:42509034G>A	ENST00000381668.5	-	23	2316	c.2085C>T	c.(2083-2085)atC>atT	p.I695I	ATP8A1_ENST00000264449.10_Splice_Site_p.I680I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	695					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTGAATTACCGATGTTAATGG	0.348																																																0													186	166	173					4																	42509034		2203	4300	6503	SO:0001630	splice_region_variant	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2086+1C>T	4.37:g.42509034G>A			Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	CCDS3466.1																																																																																				0.348	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	Silent	A	42509034	G	A	42509034	5	1	109	1	0	0	0	0	0	0	1	0	1192	1072	37	1	1469	1	ATP8A1	4	42509034	Splice_Site	SNP	G	TCGA-AK-3456-01A-02D-1386-10		42509034	148645242	7	6815											
PDCL2	132954	broad.mit.edu	37	4	56448342	56448342	+	Silent	SNP	T	T	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr4:56448342T>C	ENST00000295645.4	-	2	171	c.69A>G	c.(67-69)aaA>aaG	p.K23K		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	23										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TTGACTCTTCTTTAGGAGGAA	0.353																																																0													158	144	148					4																	56448342		1846	4091	5937	SO:0001819	synonymous_variant	132954			BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.69A>G	4.37:g.56448342T>C			A8MWA2|B9ZVQ9	Silent	SNP	ENST00000295645.4	37	CCDS47059.1																																																																																				0.353	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		C	56448342	T	C	56448342	2	2	109	1	0	0	0	0	0	0	0	1	11629	1606	56	3		3	PDCL2	4	56448342	Silent	SNP	T	TCGA-AK-3456-01A-02D-1386-10	13939308	56448342	134705934	8	6816											
NHEDC2	133308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	103947531	103947531	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr4:103947531A>T	ENST00000394785.3	-	12	2241	c.1610T>A	c.(1609-1611)gTt>gAt	p.V537D	SLC9B2_ENST00000503230.1_Missense_Mutation_p.V480D|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.V537D|SLC9B2_ENST00000503103.1_3'UTR	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	537					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										TCACCTCTAAACTTGCACAGA	0.353																																																0													93	97	96					4																	103947531		2203	4300	6503	SO:0001583	missense	0			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1610T>A	4.37:g.103947531A>T	ENSP00000378265:p.Val537Asp		B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482680	0.44147	.	.	ENSG00000164038	ENST00000362026;ENST00000394785;ENST00000503230	T;T;T	0.25250	1.81;1.81;1.85	5.28	4.09	0.47781	.	1.675060	0.03863	N	0.274337	T	0.20901	0.0503	N	0.22421	0.69	0.32795	N	0.500665	B;B	0.33379	0.41;0.41	B;B	0.33042	0.157;0.157	T	0.22243	-1.0222	10	0.87932	D	0	.	6.1578	0.20348	0.7864:0.0:0.2136:0.0	.	480;537	E9PE63;Q86UD5	.;SL9B2_HUMAN	D	537;537;480	ENSP00000354574:V537D;ENSP00000378265:V537D;ENSP00000422477:V480D	ENSP00000354574:V537D	V	-	2	0	SLC9B2	104166980	0.180000	0.23148	0.593000	0.28771	0.931000	0.56810	0.837000	0.27558	0.817000	0.34445	0.477000	0.44152	GTT		0.353	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		T	103947531	A	T	103947531	3	4	109	1	0	0	0	0	1	0	0	0	10403	43	2	5	7	5	NHEDC2	4	103947531	Missense_Mutation	SNP	A	TCGA-AK-3456-01A-02D-1386-10	47499189	103947531	87206745	9	6817											
CARD6	84674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	40843666	40843666	+	Silent	SNP	T	T	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr5:40843666T>G	ENST00000254691.5	+	2	895	c.696T>G	c.(694-696)gtT>gtG	p.V232V	CARD6_ENST00000381677.3_Silent_p.V232V	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	232	Asp/Glu-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAGAGGAGGTTTATGATGACC	0.438																																																0													77	80	79					5																	40843666		2203	4300	6503	SO:0001819	synonymous_variant	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.696T>G	5.37:g.40843666T>G			Q52LR2	Silent	SNP	ENST00000254691.5	37	CCDS3935.1																																																																																				0.438	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			G	40843666	T	G	40843666	2	3	109	1	0	0	0	0	0	0	0	1	2652	1828	64	5		5	CARD6	5	40843666	Silent	SNP	T	TCGA-AK-3456-01A-02D-1386-10		40843666	140071594	10	6818											
HIVEP1	3096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	12123871	12123871	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr6:12123871G>C	ENST00000379388.2	+	4	4175	c.3843G>C	c.(3841-3843)aaG>aaC	p.K1281N	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1281					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACCCAAAAAGAAAAGGCTCC	0.453																																																0													73	74	74					6																	12123871		1881	4111	5992	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3843G>C	6.37:g.12123871G>C	ENSP00000368698:p.Lys1281Asn		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269989	0.80469	.	.	ENSG00000095951	ENST00000379388	T	0.60171	0.21	6.07	6.07	0.98685	.	0.000000	0.38111	N	0.001817	T	0.78349	0.4269	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78560	-0.2157	9	.	.	.	-29.3339	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1281	P15822	ZEP1_HUMAN	N	1281	ENSP00000368698:K1281N	.	K	+	3	2	HIVEP1	12231857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.735000	0.74806	2.884000	0.98904	0.655000	0.94253	AAG		0.453	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		C	12123871	G	C	12123871	3	2	109	1	0	0	0	0	1	0	0	0	7188	933	33	4	3853	4	HIVEP1	6	12123871	Missense_Mutation	SNP	G	TCGA-AK-3456-01A-02D-1386-10		12123871	158991196	11	6819											
SLC29A1	2030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44197391	44197391	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr6:44197391C>T	ENST00000393841.1	+	5	668	c.177C>T	c.(175-177)gaC>gaT	p.D59D	SLC29A1_ENST00000371708.1_Silent_p.D59D|SLC29A1_ENST00000427851.2_Silent_p.D59D|SLC29A1_ENST00000371740.5_Silent_p.D59D|SLC29A1_ENST00000313248.7_Silent_p.D138D|SLC29A1_ENST00000393844.1_Silent_p.D59D|SLC29A1_ENST00000371755.3_Silent_p.D59D|SLC29A1_ENST00000371713.1_Silent_p.D59D|SLC29A1_ENST00000371724.1_Silent_p.D59D|SLC29A1_ENST00000371731.1_Silent_p.D59D|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	59					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TGAGCAAGGACGCCCAGGCGT	0.562																																																0													121	117	118					6																	44197391		2203	4300	6503	SO:0001819	synonymous_variant	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.177C>T	6.37:g.44197391C>T			B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	CCDS4908.1																																																																																				0.562	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			T	44197391	C	T	44197391	2	4	109	1	0	0	0	0	0	0	0	1	14540	535	19	1		1	SLC29A1	6	44197391	Silent	SNP	C	TCGA-AK-3456-01A-02D-1386-10	32073520	44197391	126917676	12	6820											
AARS2	57505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44274036	44274036	+	Silent	SNP	C	C	A	rs557359115	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr6:44274036C>A	ENST00000244571.4	-	9	1283	c.1281G>T	c.(1279-1281)ggG>ggT	p.G427G	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TATCTGAAGGCCCCAGGGTCC	0.617																																																0													88	86	87					6																	44274036		2203	4300	6503	SO:0001819	synonymous_variant	57505			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1281G>T	6.37:g.44274036C>A				Silent	SNP	ENST00000244571.4	37	CCDS34464.1																																																																																				0.617	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		A	44274036	C	A	44274036	2	1	109	1	0	0	0	0	0	0	0	1	20	726	26	4		4	AARS2	6	44274036	Silent	SNP	C	TCGA-AK-3456-01A-02D-1386-10	76645	44274036	126841031	13	6821											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82579567	82579567	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr7:82579567T>C	ENST00000333891.9	-	6	10674	c.10337A>G	c.(10336-10338)cAa>cGa	p.Q3446R	PCLO_ENST00000423517.2_Missense_Mutation_p.Q3446R|PCLO_ENST00000437081.1_Missense_Mutation_p.Q166R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCATCCGTTTGTACACCACT	0.433																																																0													127	117	120					7																	82579567		1945	4151	6096	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10337A>G	7.37:g.82579567T>C	ENSP00000334319:p.Gln3446Arg			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374064	0.61735	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35789	1.41;1.41;1.29	5.73	5.73	0.89815	.	.	.	.	.	T	0.55481	0.1923	M	0.75615	2.305	0.52501	D	0.999958	P;D;D	0.59767	0.92;0.986;0.986	B;P;P	0.56088	0.441;0.791;0.791	T	0.61158	-0.7119	9	0.87932	D	0	.	16.0174	0.80450	0.0:0.0:0.0:1.0	.	3377;3446;3446	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	R	3377;3446;3446;166	ENSP00000334319:Q3446R;ENSP00000388393:Q3446R;ENSP00000393760:Q166R	ENSP00000334319:Q3446R	Q	-	2	0	PCLO	82417503	1.000000	0.71417	0.285000	0.24819	0.961000	0.63080	7.857000	0.86963	2.186000	0.69663	0.533000	0.62120	CAA		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82579567	T	C	82579567	3	2	109	1	0	0	0	0	1	0	0	0	11585	1812	63	3	5188	3	PCLO	7	82579567	Missense_Mutation	SNP	T	TCGA-AK-3456-01A-02D-1386-10		82579567	76559096	14	6822											
NPTX2	4885	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	98256632	98256632	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr7:98256632C>T	ENST00000265634.3	+	4	1209	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	348	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)			AGCCCGGGGGCGTGCTGATCC	0.677																																																0													54	45	48					7																	98256632		2203	4300	6503	SO:0001819	synonymous_variant	4885				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.1044C>T	7.37:g.98256632C>T			A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	CCDS5657.1																																																																																				0.677	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		T	98256632	C	T	98256632	2	4	109	1	0	0	0	0	0	0	0	1	10605	755	27	1		1	NPTX2	7	98256632	Silent	SNP	C	TCGA-AK-3456-01A-02D-1386-10	15677065	98256632	60882031	15	6823											
SGK223	157285	hgsc.bcm.edu;ucsc.edu	37	8	8185255	8185256	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr8:8185255_8185256insAA	ENST00000520004.1	-	5	3300_3301	c.3036_3037insTT	c.(3034-3039)tctgagfs	p.E1013fs	SGK223_ENST00000330777.4_Frame_Shift_Ins_p.E1013fs			Q86YV5	SG223_HUMAN		1015	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCGGGGTCCTCAGAGCAGGTGG	0.55																																					GBM(34;731 755 10259 33573 33867)											0																																										SO:0001589	frameshift_variant	157285																														ENST00000520004.1:c.3036_3037insTT	8.37:g.8185255_8185256insAA	ENSP00000428054:p.Glu1013fs		Q8N3N5	Frame_Shift_Ins	INS	ENST00000520004.1	37	CCDS43706.1																																																																																				0.55	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			AA	8185256	-	AA	8185255	7	5	109	1	0	1	1	0	0	0	0	0	14216	835	29	0	1179	0	SGK223	8	8185255	Frame_Shift_Ins	INS	-	TCGA-AK-3456-01A-02D-1386-10		8185255	138178767	16	6824											
COL27A1	85301	hgsc.bcm.edu	37	9	117026664	117026664	+	Silent	SNP	G	G	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr9:117026664G>T	ENST00000356083.3	+	29	3616	c.3225G>T	c.(3223-3225)ggG>ggT	p.G1075G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1075	Collagen-like 8.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GACCAGCTGGGGAGCAAGGGT	0.652																																																0													28	27	27					9																	117026664		2198	4297	6495	SO:0001819	synonymous_variant	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3225G>T	9.37:g.117026664G>T			Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																				0.652	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	117026664	G	T	117026664	2	4	109	1	0	0	0	0	0	0	0	1	3687	1219	43	4		4	COL27A1	9	117026664	Silent	SNP	G	TCGA-AK-3456-01A-02D-1386-10		117026664	24186767	17	6825											
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61831542	61831542	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr10:61831542C>G	ENST00000280772.2	-	37	9288	c.9097G>C	c.(9097-9099)Ggt>Cgt	p.G3033R	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3033					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGGCATAAACCTACATAACTC	0.408																																																0													76	84	81					10																	61831542		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9097G>C	10.37:g.61831542C>G	ENSP00000280772:p.Gly3033Arg		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844596	0.51164	.	.	ENSG00000151150	ENST00000280772	T	0.66995	-0.24	5.27	5.27	0.74061	.	0.166737	0.28247	N	0.016060	T	0.52885	0.1762	N	0.25647	0.755	0.80722	D	1	P	0.50066	0.931	P	0.44673	0.457	T	0.51060	-0.8753	10	0.07644	T	0.81	.	13.2222	0.59894	0.0:0.9231:0.0:0.0769	.	3033	Q12955	ANK3_HUMAN	R	3033	ENSP00000280772:G3033R	ENSP00000280772:G3033R	G	-	1	0	ANK3	61501548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.825000	0.55730	2.465000	0.83290	0.462000	0.41574	GGT		0.408	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		G	61831542	C	G	61831542	3	3	109	1	0	0	0	0	1	0	0	0	622	681	24	4	4377	4	ANK3	10	61831542	Missense_Mutation	SNP	C	TCGA-AK-3456-01A-02D-1386-10		61831542	73703205	18	6826											
DUPD1	338599	broad.mit.edu	37	10	76797800	76797800	+	Missense_Mutation	SNP	G	G	A	rs148261941		TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr10:76797800G>A	ENST00000338487.5	-	3	456	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	153	Substrate binding. {ECO:0000305}.|Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTGGCTGACCGGCTGCGGCCC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19152	0.0		0.0	False		,,,				2504	0.0															0													64	55	58					10																	76797800		2203	4300	6503	SO:0001583	missense	338599				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.457C>T	10.37:g.76797800G>A	ENSP00000340609:p.Arg153Trp		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	CCDS31223.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.7	4.188607	0.78789	.	.	ENSG00000188716	ENST00000338487	D	0.98381	-4.9	4.65	2.72	0.32119	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	H	0.98314	4.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98792	1.0736	10	0.87932	D	0	-32.5984	13.2772	0.60194	0.0:0.0:0.7111:0.2888	.	153	Q68J44	DUPD1_HUMAN	W	153	ENSP00000340609:R153W	ENSP00000340609:R153W	R	-	1	2	DUPD1	76467806	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	5.217000	0.65252	0.544000	0.28883	0.485000	0.47835	CGG		0.622	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		A	76797800	G	A	76797800	3	1	109	1	0	0	0	0	1	0	0	0	4806	1115	39	1	209	1	DUPD1	10	76797800	Missense_Mutation	SNP	G	TCGA-AK-3456-01A-02D-1386-10	14966258	76797800	58736947	19	6827											
RRP12	23223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99145673	99145673	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr10:99145673C>T	ENST00000370992.4	-	9	1206	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	RRP12_ENST00000414986.1_Silent_p.E304E|RRP12_ENST00000315563.6_Silent_p.E265E|RRP12_ENST00000536831.1_Silent_p.E83E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	365						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGGCGTTGAGCTCTGCTGACA	0.647																																																0													76	45	55					10																	99145673		2202	4300	6502	SO:0001819	synonymous_variant	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1095G>A	10.37:g.99145673C>T			B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																				0.647	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		T	99145673	C	T	99145673	2	4	109	1	0	0	0	0	0	0	0	1	13692	796	28	2		2	RRP12	10	99145673	Silent	SNP	C	TCGA-AK-3456-01A-02D-1386-10	22347873	99145673	36389074	20	6828											
LOXL4	84171	broad.mit.edu;hgsc.bcm.edu	37	10	100022771	100022771	+	Silent	SNP	C	C	T	rs201076968	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr10:100022771C>T	ENST00000260702.3	-	2	156	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	2						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A2A(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GTGGGGACCACGCCATGGTGA	0.587											OREG0020428	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		17790	0.001		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	large_intestine(1)											30	33	32					10																	100022771		2203	4300	6503	SO:0001819	synonymous_variant	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.6G>A	10.37:g.100022771C>T		1348	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	ENST00000260702.3	37	CCDS7473.1																																																																																				0.587	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		T	100022771	C	T	100022771	2	4	109	1	0	0	0	0	0	0	0	1	8904	523	19	1		1	LOXL4	10	100022771	Silent	SNP	C	TCGA-AK-3456-01A-02D-1386-10	877098	100022771	35511976	21	6829											
ZNF215	7762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6964378	6964378	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr11:6964378C>G	ENST00000278319.5	+	5	1136	c.548C>G	c.(547-549)tCt>tGt	p.S183C	ZNF215_ENST00000529903.1_Missense_Mutation_p.S183C|ZNF215_ENST00000414517.2_Missense_Mutation_p.S183C|ZNF215_ENST00000527171.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	183	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAACTGGACTCTGCTGTAAAG	0.398																																																0													163	155	158					11																	6964378		2201	4296	6497	SO:0001583	missense	7762			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.548C>G	11.37:g.6964378C>G	ENSP00000278319:p.Ser183Cys		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092707	0.36952	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.01933	4.55;4.55;4.55	4.38	4.38	0.52667	Krueppel-associated box (4);	0.596683	0.14065	N	0.343806	T	0.05868	0.0153	L	0.39020	1.185	0.27254	N	0.958823	D;D	0.63046	0.992;0.992	P;P	0.57371	0.819;0.754	T	0.22208	-1.0223	10	0.87932	D	0	2.3744	12.6584	0.56799	0.0:1.0:0.0:0.0	.	183;183	Q96C84;Q9UL58	.;ZN215_HUMAN	C	183	ENSP00000278319:S183C;ENSP00000393202:S183C;ENSP00000432306:S183C	ENSP00000278319:S183C	S	+	2	0	ZNF215	6920954	0.000000	0.05858	1.000000	0.80357	0.978000	0.69477	0.481000	0.22260	2.438000	0.82558	0.655000	0.94253	TCT		0.398	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			G	6964378	C	G	6964378	3	3	109	1	0	0	0	0	1	0	0	0	17776	913	32	4	558	4	ZNF215	11	6964378	Missense_Mutation	SNP	C	TCGA-AK-3456-01A-02D-1386-10		6964378	128042138	22	6830											
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249532	71249532	+	Missense_Mutation	SNP	C	C	G	rs532438179|rs11234084|rs369043826	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr11:71249532C>G	ENST00000398534.3	+	1	462	c.431C>G	c.(430-432)tCc>tGc	p.S144C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	144	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CCCTGCTGTTCCCAGTCCAGC	0.612																																																0													148	160	156					11																	71249532		2200	4294	6494	SO:0001583	missense	57830			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.431C>G	11.37:g.71249532C>G	ENSP00000420723:p.Ser144Cys		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	3.125	-0.179750	0.06380	.	.	ENSG00000241233	ENST00000398534	T	0.01197	5.19	1.57	-2.99	0.05497	.	.	.	.	.	T	0.00552	0.0018	N	0.02213	-0.635	0.21861	N	0.999505	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	9	0.02654	T	1	.	12.0511	0.53507	0.0:0.7645:0.2355:0.0	rs11234084	144	O75690	KRA58_HUMAN	C	144	ENSP00000420723:S144C	ENSP00000420723:S144C	S	+	2	0	KRTAP5-8	70927180	0.000000	0.05858	0.375000	0.26029	0.014000	0.08584	-0.627000	0.05521	-0.723000	0.04915	-0.951000	0.02657	TCC		0.612	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		G	71249532	C	G	71249532	3	3	109	1	0	0	0	0	1	0	0	0	8569	855	30	4	433	4	KRTAP5-8	11	71249532	Missense_Mutation	SNP	C	TCGA-AK-3456-01A-02D-1386-10	64285154	71249532	63756984	23	6831											
CEP164	22897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117263760	117263760	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr11:117263760G>A	ENST00000278935.3	+	20	2681	c.2534G>A	c.(2533-2535)gGg>gAg	p.G845E	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	845	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAAGTGGAAGGGGAGCATGAG	0.592																																																0													195	144	162					11																	117263760		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2534G>A	11.37:g.117263760G>A	ENSP00000278935:p.Gly845Glu		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.448079	0.26074	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.42900	0.96	5.27	1.97	0.26223	.	0.216229	0.32147	N	0.006510	T	0.18045	0.0433	N	0.08118	0	0.09310	N	0.99999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.21518	-1.0243	10	0.13470	T	0.59	-10.5803	7.449	0.27227	0.3834:0.0:0.6166:0.0	.	819;619;845;848	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	E	845;819;726	ENSP00000278935:G845E	ENSP00000278935:G845E	G	+	2	0	CEP164	116768970	0.049000	0.20398	0.600000	0.28864	0.731000	0.41821	0.215000	0.17562	0.616000	0.30141	-0.137000	0.14449	GGG		0.592	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		A	117263760	G	A	117263760	3	1	109	1	0	0	0	0	1	0	0	0	3251	1232	43	2	2604	2	CEP164	11	117263760	Missense_Mutation	SNP	G	TCGA-AK-3456-01A-02D-1386-10	46014228	117263760	17742756	24	6832											
PRB1	5542	hgsc.bcm.edu	37	12	11506336	11506336	+	Intron	SNP	G	G	T	rs575666387	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr12:11506336G>T	ENST00000500254.2	-	4	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGGTGGGGGACCTTG	0.612													g|||	13	0.00259585	0.0083	0.0029	5008	,	,		12845	0.0		0.0	False		,,,				2504	0.0															0													62	66	65					12																	11506336		1991	4127	6118	SO:0001627	intron_variant	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.314-12C>A	12.37:g.11506336G>T			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		T	11506336	G	T	11506336	1	4	109	0	1	0	0	0	0	0	0	0	12447	1348	47	4		4	PRB1	12	11506336	Intron	SNP	G	TCGA-AK-3456-01A-02D-1386-10		11506336	122345559	25	6833											
MCRS1	10445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49954117	49954117	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr12:49954117A>T	ENST00000550165.1	-	10	1108	c.842T>A	c.(841-843)tTc>tAc	p.F281Y	MCRS1_ENST00000546244.1_Missense_Mutation_p.F90Y|MCRS1_ENST00000357123.4_Missense_Mutation_p.F294Y|MCRS1_ENST00000343810.4_Missense_Mutation_p.F281Y|MCRS1_ENST00000547182.1_5'UTR			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	281					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TGCATCAGAGAAGTTCAGCAC	0.562																																																0													280	258	265					12																	49954117		2203	4300	6503	SO:0001583	missense	10445			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"INO80 complex subunits"	6960	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.842T>A	12.37:g.49954117A>T	ENSP00000448056:p.Phe281Tyr		O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	ENST00000550165.1	37	CCDS8787.1	.	.	.	.	.	.	.	.	.	.	A	34	5.322806	0.95708	.	.	ENSG00000187778	ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	M	0.82517	2.595	0.80722	D	1	D;D	0.56968	0.975;0.978	P;P	0.60886	0.762;0.88	T	0.80353	-0.1418	8	.	.	.	-17.0397	14.5523	0.68075	1.0:0.0:0.0:0.0	.	281;294	Q96EZ8;Q96EZ8-2	MCRS1_HUMAN;.	Y	90;281;281;294;268	.	.	F	-	2	0	MCRS1	48240384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.429000	0.90280	2.319000	0.78375	0.533000	0.62120	TTC		0.562	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		T	49954117	A	T	49954117	3	4	109	1	0	0	0	0	1	0	0	0	9401	246	9	5	574	5	MCRS1	12	49954117	Missense_Mutation	SNP	A	TCGA-AK-3456-01A-02D-1386-10	38447781	49954117	83897778	26	6834											
FREM2	341640	hgsc.bcm.edu	37	13	39262990	39262991	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr13:39262990_39262991TC>CT	ENST00000280481.7	+	1	1725_1726	c.1509_1510TC>CT	c.(1507-1512)gcTCcc>gcCTcc	p.P504S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	504					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCAGCTCTGCTCCCAAGAGCTT	0.599																																																0																																										SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	Exception_encountered	13.37:g.39262990_39262991delinsCT	ENSP00000280481:p.Pro504Ser		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent|Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.599	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		CT	39262991	TC	CT	39262990	3	2	109	1	0	0	0	0	1	0	0	0	6047	1538	54	3	1511	3	FREM2	13	39262990	Missense_Mutation	DNP	TC	TCGA-AK-3456-01A-02D-1386-10		39262990	75906888	27	6835											
FAM70B	348013	broad.mit.edu	37	13	114469190	114469190	+	Missense_Mutation	SNP	C	C	T	rs200265697	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr13:114469190C>T	ENST00000375353.3	+	2	176	c.149C>T	c.(148-150)aCg>aTg	p.T50M		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	50						integral component of membrane (GO:0016021)											ACCACCAGGACGGAGAATGTG	0.652													C|||	3	0.000599042	0.0	0.0014	5008	,	,		16829	0.0		0.001	False		,,,				2504	0.001															0													107	85	92					13																	114469190		2203	4300	6503	SO:0001583	missense	0			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.149C>T	13.37:g.114469190C>T	ENSP00000364502:p.Thr50Met			Missense_Mutation	SNP	ENST00000375353.3	37	CCDS45071.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	c	16.21	3.059704	0.55325	.	.	ENSG00000184497	ENST00000375353	T	0.57436	0.4	4.42	4.42	0.53409	.	.	.	.	.	T	0.74419	0.3714	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80034	-0.1551	9	0.87932	D	0	-11.7358	15.8064	0.78517	0.0:1.0:0.0:0.0	.	50;50	B4DIK8;Q8WV15	.;FA70B_HUMAN	M	50	ENSP00000364502:T50M	ENSP00000364502:T50M	T	+	2	0	FAM70B	113644753	1.000000	0.71417	0.906000	0.35671	0.014000	0.08584	6.448000	0.73469	2.008000	0.58898	0.313000	0.20887	ACG		0.652	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		T	114469190	C	T	114469190	3	4	109	1	0	0	0	0	1	0	0	0	5608	536	19	1	155	1	FAM70B	13	114469190	Missense_Mutation	SNP	C	TCGA-AK-3456-01A-02D-1386-10	75206200	114469190	700688	28	6836											
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24886608	24886608	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:24886608G>A	ENST00000382554.3	+	9	5971	c.5653G>A	c.(5653-5655)Gcc>Acc	p.A1885T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1885					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAAGGCCTTTGCCAAGAGTGG	0.627																																																0													13	14	14					14																	24886608		1909	4110	6019	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5653G>A	14.37:g.24886608G>A	ENSP00000371994:p.Ala1885Thr		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081313	0.55753	.	.	ENSG00000205978	ENST00000382554	T	0.10960	2.82	4.87	2.85	0.33270	.	.	.	.	.	T	0.06554	0.0168	N	0.14661	0.345	0.22412	N	0.999121	P	0.46784	0.884	B	0.39617	0.305	T	0.32025	-0.9922	9	0.31617	T	0.26	.	10.835	0.46681	0.0:0.3914:0.6086:0.0	.	1885	Q9P2P1	NYNRI_HUMAN	T	1885	ENSP00000371994:A1885T	ENSP00000371994:A1885T	A	+	1	0	NYNRIN	23956448	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.169000	0.31871	1.369000	0.46134	0.563000	0.77884	GCC		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			A	24886608	G	A	24886608	3	1	109	1	0	0	0	0	1	0	0	0	10798	1319	46	2	5683	2	NYNRIN	14	24886608	Missense_Mutation	SNP	G	TCGA-AK-3456-01A-02D-1386-10		24886608	82462932	29	6837											
PTGDR	5729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	52741643	52741643	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:52741643C>T	ENST00000306051.2	+	2	1143	c.1041C>T	c.(1039-1041)agC>agT	p.S347S	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	347					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGTACAGGAGCCGGTGCAGCA	0.388																																																0													47	44	45					14																	52741643		2203	4300	6503	SO:0001819	synonymous_variant	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.1041C>T	14.37:g.52741643C>T			G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	ENST00000306051.2	37	CCDS9707.1																																																																																				0.388	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		T	52741643	C	T	52741643	2	4	109	1	0	0	0	0	0	0	0	1	12746	738	26	2		2	PTGDR	14	52741643	Silent	SNP	C	TCGA-AK-3456-01A-02D-1386-10	27855035	52741643	54607897	30	6838											
ABCD4	5826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74763075	74763075	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:74763075G>C	ENST00000356924.4	-	5	646	c.503C>G	c.(502-504)cCg>cGg	p.P168R	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Missense_Mutation_p.P81R|ABCD4_ENST00000557588.1_Missense_Mutation_p.P168R	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	168	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GAGGGTGAACGGGGAGATGAT	0.602																																																0													117	97	104					14																	74763075		2203	4300	6503	SO:0001583	missense	5826			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.503C>G	14.37:g.74763075G>C	ENSP00000349396:p.Pro168Arg		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	CCDS9828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.992342|3.992342	0.74703|0.74703	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816;ENST00000557588|ENST00000556971	D;D;D|.	0.99607|.	-6.27;-6.27;-6.27|.	4.82|4.82	4.82|4.82	0.62117|0.62117	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83917|0.83917	0.5358|0.5358	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	D|D	0.86906|0.86906	0.2057|0.2057	10|5	0.62326|.	D|.	0.03|.	.|.	18.1042|18.1042	0.89515|0.89515	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81;168;168|.	F8W7M4;A8K5L7;O14678|.	.;.;ABCD4_HUMAN|.	R|G	168;81;168|128	ENSP00000349396:P168R;ENSP00000298816:P81R;ENSP00000451993:P168R|.	ENSP00000298816:P81R|.	P|R	-|-	2|1	0|0	ABCD4|ABCD4	73832828|73832828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.478000|0.478000	0.33099|0.33099	9.657000|9.657000	0.98554|0.98554	2.486000|2.486000	0.83907|0.83907	0.650000|0.650000	0.86243|0.86243	CCG|CGT		0.602	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		C	74763075	G	C	74763075	3	2	109	1	0	0	0	0	1	0	0	0	63	1116	39	4	1377	4	ABCD4	14	74763075	Missense_Mutation	SNP	G	TCGA-AK-3456-01A-02D-1386-10	22021432	74763075	32586465	31	6839											
DIO2	1734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	80669169	80669169	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:80669169G>A	ENST00000557010.1	-	4	1070	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	DIO2_ENST00000555750.1_Missense_Mutation_p.R265C|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.R229C|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	229					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATGCACACACGTTCAAAGGCT	0.527																																																0													93	91	92					14																	80669169		1994	4180	6174	SO:0001583	missense	1734			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.685C>T	14.37:g.80669169G>A	ENSP00000451419:p.Arg229Cys		B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170630	0.78452	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.51817	0.69;0.69;0.69	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000005	T	0.74764	0.3759	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69307	0.917;0.95;0.963	T	0.80752	-0.1242	10	0.87932	D	0	.	14.7783	0.69746	0.0:0.0:0.8557:0.1443	.	265;229;265	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	C	229;229;265	ENSP00000405854:R229C;ENSP00000451419:R229C;ENSP00000450980:R265C	ENSP00000405854:R229C	R	-	1	0	DIO2	79738922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.405000	0.52630	2.724000	0.93272	0.650000	0.86243	CGT		0.527	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			A	80669169	G	A	80669169	3	1	109	1	0	0	0	0	1	0	0	0	4527	1145	40	1	140	1	DIO2	14	80669169	Missense_Mutation	SNP	G	TCGA-AK-3456-01A-02D-1386-10	5906094	80669169	26680371	32	6840											
SMEK1	55671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	91942217	91942217	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:91942217G>C	ENST00000554943.1	-	7	1319	c.1204C>G	c.(1204-1206)Cag>Gag	p.Q402E	SMEK1_ENST00000554684.1_Missense_Mutation_p.Q402E|SMEK1_ENST00000428424.2_Missense_Mutation_p.Q163E|SMEK1_ENST00000337238.4_Missense_Mutation_p.Q402E|SMEK1_ENST00000555462.1_Missense_Mutation_p.Q163E			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	402					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)		TGTGCCTCCTGCATGACAAAC	0.363																																																0													116	103	107					14																	91942217		2203	4300	6503	SO:0001583	missense	55671			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.1204C>G	14.37:g.91942217G>C	ENSP00000450883:p.Gln402Glu		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.262820|4.262820	0.80358|0.80358	.|.	.|.	ENSG00000100796|ENSG00000100796	ENST00000555470|ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390;ENST00000555029;ENST00000417249	.|T;T;T;T;T;T;T	.|0.40756	.|1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46483|0.46483	0.1395|0.1395	L|L	0.31294|0.31294	0.92|0.92	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.44877	.|0.811;0.792;0.76;0.845	.|P;B;B;P	.|0.54924	.|0.764;0.337;0.269;0.458	T|T	0.14200|0.14200	-1.0481|-1.0481	5|10	.|0.12103	.|T	.|0.63	-5.415|-5.415	18.974|18.974	0.92728|0.92728	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|163;402;402;402	.|Q6IN85-4;G3V5Z3;Q6IN85;Q6IN85-2	.|.;.;P4R3A_HUMAN;.	G|E	181|402;402;163;402;163;402;163;192	.|ENSP00000450864:Q402E;ENSP00000337125:Q402E;ENSP00000392704:Q163E;ENSP00000450883:Q402E;ENSP00000450891:Q163E;ENSP00000452596:Q402E;ENSP00000452257:Q163E	.|ENSP00000337125:Q402E	A|Q	-|-	2|1	0|0	SMEK1|SMEK1	91011970|91011970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.809000|9.809000	0.99208|0.99208	2.495000|2.495000	0.84180|0.84180	0.591000|0.591000	0.81541|0.81541	GCA|CAG		0.363	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		C	91942217	G	C	91942217	3	2	109	1	0	0	0	0	1	0	0	0	14799	1328	46	4	1294	4	SMEK1	14	91942217	Missense_Mutation	SNP	G	TCGA-AK-3456-01A-02D-1386-10	11273048	91942217	15407323	33	6841											
AHNAK2	113146	hgsc.bcm.edu	37	14	105416254	105416255	+	Missense_Mutation	DNP	GA	GA	AT	rs386781100|rs544344402|rs201136817	byFrequency	TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr14:105416254_105416255GA>AT	ENST00000333244.5	-	7	5652_5653	c.5533_5534TC>AT	c.(5533-5535)TCg>ATg	p.S1845M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1845						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCCACCGAGGCCTCGATG	0.604																																																0																																										SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5533_5534delinsAT	14.37:g.105416254_105416255delinsAT	ENSP00000353114:p.Ser1845Met		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.604	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		AT	105416255	GA	AT	105416254	3	1	109	1	0	0	0	0	1	0	0	0	415	1059	37	1	11857	1	AHNAK2	14	105416254	Missense_Mutation	DNP	GA	TCGA-AK-3456-01A-02D-1386-10	13474037	105416254	1933286	34	6842											
SQRDL	58472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45965852	45965852	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr15:45965852T>G	ENST00000260324.7	+	5	893	c.507T>G	c.(505-507)aaT>aaG	p.N169K	SQRDL_ENST00000568606.1_Missense_Mutation_p.N169K|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.N169K	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	169					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TAGGGTCGAATTATTCAGTTA	0.398																																																0													146	149	148					15																	45965852		2198	4297	6495	SO:0001583	missense	58472			AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.507T>G	15.37:g.45965852T>G	ENSP00000260324:p.Asn169Lys		Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111770	0.77210	.	.	ENSG00000137767	ENST00000260324	T	0.50548	0.74	5.62	3.29	0.37713	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	H	0.96489	3.83	0.58432	D	0.999999	P	0.48764	0.915	P	0.55161	0.77	T	0.70648	-0.4814	10	0.59425	D	0.04	.	7.2018	0.25885	0.0:0.2669:0.0:0.7331	.	169	Q9Y6N5	SQRD_HUMAN	K	169	ENSP00000260324:N169K	ENSP00000260324:N169K	N	+	3	2	SQRDL	43753144	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.085000	0.50151	0.415000	0.25817	0.460000	0.39030	AAT		0.398	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			G	45965852	T	G	45965852	3	3	109	1	0	0	0	0	1	0	0	0	15134	1490	52	5	521	5	SQRDL	15	45965852	Missense_Mutation	SNP	T	TCGA-AK-3456-01A-02D-1386-10		45965852	56565540	35	6843											
NLRC5	84166	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57088695	57088695	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr16:57088695C>G	ENST00000262510.6	+	25	3764	c.3539C>G	c.(3538-3540)cCc>cGc	p.P1180R	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000436936.1_Missense_Mutation_p.P1180R|NLRC5_ENST00000308149.7_Missense_Mutation_p.P1180R|NLRC5_ENST00000539144.1_Missense_Mutation_p.P1180R	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1180					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGAAAAGCCCCTTCCTGCTG	0.577																																																0													184	190	188					16																	57088695		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3539C>G	16.37:g.57088695C>G	ENSP00000262510:p.Pro1180Arg		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658334	0.29425	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.53640	0.61;5.53;0.61;5.53;0.61;0.61	4.88	1.8	0.24995	.	.	.	.	.	T	0.57007	0.2024	M	0.62723	1.935	0.23232	N	0.998076	D;D;D;D;P	0.59357	0.974;0.985;0.985;0.985;0.954	P;P;P;P;P	0.59825	0.548;0.735;0.735;0.864;0.646	T	0.42565	-0.9444	9	0.56958	D	0.05	.	7.3075	0.26455	0.0:0.7163:0.0:0.2837	.	865;1180;1180;1180;1180	Q9H6Y0;Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;.;NLRC5_HUMAN	R	1180;1180;1180;624;1180;657;449	ENSP00000262510:P1180R;ENSP00000308886:P1180R;ENSP00000389739:P1180R;ENSP00000441727:P1180R;ENSP00000441597:P657R;ENSP00000440153:P449R	ENSP00000262510:P1180R	P	+	2	0	NLRC5	55646196	0.080000	0.21391	0.962000	0.40283	0.070000	0.16714	0.247000	0.18179	0.655000	0.30866	0.557000	0.71058	CCC		0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		G	57088695	C	G	57088695	3	3	109	1	0	0	0	0	1	0	0	0	10472	623	22	4	3629	4	NLRC5	16	57088695	Missense_Mutation	SNP	C	TCGA-AK-3456-01A-02D-1386-10		57088695	33266058	36	6844											
KATNB1	10300	broad.mit.edu	37	16	57775693	57775693	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr16:57775693C>T	ENST00000379661.3	+	3	527	c.135C>T	c.(133-135)gtC>gtT	p.V45V		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				ACTGCCGCGTCAACCTGTGGT	0.652																																																0													42	37	39					16																	57775693		2198	4300	6498	SO:0001819	synonymous_variant	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"WD repeat domain containing"	6217	protein-coding gene	gene with protein product		602703	"katanin p80 (WD40-containing) subunit B 1"			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.135C>T	16.37:g.57775693C>T				Silent	SNP	ENST00000379661.3	37	CCDS10788.1																																																																																				0.652	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			T	57775693	C	T	57775693	2	4	109	1	0	0	0	0	0	0	0	1	7989	813	29	2		2	KATNB1	16	57775693	Silent	SNP	C	TCGA-AK-3456-01A-02D-1386-10	686998	57775693	32579060	37	6845											
RLTPR	146206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67690372	67690372	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr16:67690372C>T	ENST00000334583.6	+	35	4188	c.3860C>T	c.(3859-3861)gCc>gTc	p.A1287V	RLTPR_ENST00000545661.1_Missense_Mutation_p.A1251V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1287					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTGAGTCTGCCACCTGGAAG	0.627																																																0													25	29	28					16																	67690372		1956	4146	6102	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3860C>T	16.37:g.67690372C>T	ENSP00000334958:p.Ala1287Val		B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145335	0.21288	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.14022	2.58;2.54	4.72	2.61	0.31194	.	0.822055	0.10710	N	0.642905	T	0.05044	0.0135	N	0.02539	-0.55	0.09310	N	0.999995	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.25257	-1.0137	10	0.37606	T	0.19	-16.0127	5.3555	0.16059	0.0:0.6798:0.2095:0.1107	.	1251;1287	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	V	1287;384;1251	ENSP00000334958:A1287V;ENSP00000441481:A1251V	ENSP00000334958:A1287V	A	+	2	0	RLTPR	66247873	0.002000	0.14202	0.871000	0.34182	0.363000	0.29612	1.113000	0.31184	2.333000	0.79357	0.491000	0.48974	GCC		0.627	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		T	67690372	C	T	67690372	3	4	109	1	0	0	0	0	1	0	0	0	13400	739	26	2	3998	2	RLTPR	16	67690372	Missense_Mutation	SNP	C	TCGA-AK-3456-01A-02D-1386-10	9914679	67690372	22664381	38	6846											
ZNF844	284391	broad.mit.edu;hgsc.bcm.edu	37	19	12187458	12187458	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr19:12187458A>T	ENST00000439326.3	+	4	1698	c.1523A>T	c.(1522-1524)aAt>aTt	p.N508I	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AGTGTAAGCAATGTGGGAAAG	0.408																																																0													88	79	82					19																	12187458		692	1591	2283	SO:0001583	missense	284391			AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1523A>T	19.37:g.12187458A>T	ENSP00000392024:p.Asn508Ile		Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169067	0.38315	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06849	3.25	2.45	-4.91	0.03085	.	.	.	.	.	T	0.06096	0.0158	L	0.47078	1.49	0.53688	D	0.999979	P	0.45902	0.868	B	0.38842	0.283	T	0.25152	-1.0140	9	0.51188	T	0.08	.	6.1409	0.20259	0.3002:0.0:0.5675:0.1323	.	508	Q08AG5	ZN844_HUMAN	I	508	ENSP00000392024:N508I	ENSP00000392024:N508I	N	+	2	0	ZNF844	12048458	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-5.779000	0.00099	-1.747000	0.01333	0.338000	0.21704	AAT		0.408	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			T	12187458	A	T	12187458	3	4	109	1	0	0	0	0	1	0	0	0	18195	101	4	5	1537	5	ZNF844	19	12187458	Missense_Mutation	SNP	A	TCGA-AK-3456-01A-02D-1386-10		12187458	46941525	39	6847											
ITPKC	80271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41243662	41243662	+	Silent	SNP	C	C	T			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr19:41243662C>T	ENST00000263370.2	+	6	1869	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	612					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCCCTTCTTCAAGACCCACG	0.537																																																0													170	155	160					19																	41243662		2203	4300	6503	SO:0001819	synonymous_variant	80271			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1836C>T	19.37:g.41243662C>T			Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	CCDS12563.1																																																																																				0.537	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		T	41243662	C	T	41243662	2	4	109	1	0	0	0	0	0	0	0	1	7921	825	29	2		2	ITPKC	19	41243662	Silent	SNP	C	TCGA-AK-3456-01A-02D-1386-10	29056204	41243662	17885321	40	6848											
NUCB1	4924	broad.mit.edu;hgsc.bcm.edu	37	19	49404186	49404186	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr19:49404186C>G	ENST00000405315.4	+	2	467	c.133C>G	c.(133-135)Ccc>Gcc	p.P45A	NUCB1_ENST00000263273.5_Missense_Mutation_p.P45A|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.P45A|TULP2_ENST00000221399.3_5'Flank	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	45	O-glycosylated at one site.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GACTGAGAGTCCCGTGAGTGG	0.662																																																0													43	42	42					19																	49404186		2203	4299	6502	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.133C>G	19.37:g.49404186C>G	ENSP00000385923:p.Pro45Ala		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	C	6.331	0.429208	0.11987	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000411700;ENST00000451312;ENST00000263273	T;T;T	0.18174	2.23;2.23;2.23	4.08	3.05	0.35203	.	0.620253	0.16785	N	0.199608	T	0.14485	0.0350	L	0.58428	1.81	0.34794	D	0.736003	B;B	0.32781	0.384;0.384	B;B	0.31290	0.127;0.127	T	0.10314	-1.0635	10	0.11794	T	0.64	.	8.0945	0.30820	0.0:0.8901:0.0:0.1099	.	45;45	Q02818;Q53GX6	NUCB1_HUMAN;.	A	45	ENSP00000385923:P45A;ENSP00000385211:P45A;ENSP00000263273:P45A	ENSP00000263273:P45A	P	+	1	0	NUCB1	54095998	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	2.990000	0.49401	1.302000	0.44855	-0.272000	0.10252	CCC		0.662	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		G	49404186	C	G	49404186	3	3	109	1	0	0	0	0	1	0	0	0	10720	855	30	4	135	4	NUCB1	19	49404186	Missense_Mutation	SNP	C	TCGA-AK-3456-01A-02D-1386-10	8160524	49404186	9724797	41	6849											
C21orf56	84221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47588323	47588323	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chr21:47588323G>C	ENST00000291672.5	-	3	1504	c.443C>G	c.(442-444)aCc>aGc	p.T148S	SPATC1L_ENST00000330205.6_5'UTR	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	148																	CTCCAGCAGGGTCTTGTCCAC	0.622																																																0													42	38	40					21																	47588323		2203	4300	6503	SO:0001583	missense	0			BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"speriolin-like protein"	612412	"chromosome 21 open reading frame 56"	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.443C>G	21.37:g.47588323G>C	ENSP00000291672:p.Thr148Ser		B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Missense_Mutation	SNP	ENST00000291672.5	37	CCDS46653.1	.	.	.	.	.	.	.	.	.	.	G	5.714	0.316296	0.10789	.	.	ENSG00000160284	ENST00000291672	T	0.39592	1.07	5.07	-1.74	0.08056	.	0.651863	0.13369	N	0.393029	T	0.19525	0.0469	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.05525	T	0.97	-16.8099	6.1288	0.20194	0.0813:0.5143:0.2715:0.1329	.	148	Q9H0A9	CU056_HUMAN	S	148	ENSP00000291672:T148S	ENSP00000291672:T148S	T	-	2	0	C21orf56	46412751	0.065000	0.20965	0.419000	0.26584	0.945000	0.59286	0.310000	0.19356	-0.412000	0.07519	-0.538000	0.04264	ACC		0.622	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376654.1	NM_032261		C	47588323	G	C	47588323	3	2	109	1	0	0	0	0	1	0	0	0	2129	1261	44	4	591	4	C21orf56	21	47588323	Missense_Mutation	SNP	G	TCGA-AK-3456-01A-02D-1386-10		47588323	541572	42	6850											
TCEAL6	158931	hgsc.bcm.edu	37	X	101396082	101396082	+	Silent	SNP	A	A	G			TCGA-AK-3456-01A-02D-1386-10	TCGA-AK-3456-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d36fe1be-96a5-4001-a95e-d499a6087146	0545b2bd-bb06-4ffd-a1d1-dbc3ff486024	g.chrX:101396082A>G	ENST00000372774.3	-	3	471	c.222T>C	c.(220-222)ggT>ggC	p.G74G	TCEAL6_ENST00000372773.1_Silent_p.G74G	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	74	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GCTTGCCCTCACCTTCGGACT	0.622																																																0													113	102	106					X																	101396082		2203	4300	6503	SO:0001819	synonymous_variant	158931			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.222T>C	X.37:g.101396082A>G			Q5H9J8	Silent	SNP	ENST00000372774.3	37	CCDS43978.1																																																																																				0.622	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		G	101396082	A	G	101396082	2	3	109	1	0	0	0	0	0	0	0	1	15680	146	6	3		3	TCEAL6	23	101396082	Silent	SNP	A	TCGA-AK-3456-01A-02D-1386-10		101396082	53874478	43	6851											
C1orf91	56063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32682463	32682463	+	Intron	SNP	A	A	T			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr1:32682463A>T	ENST00000344461.3	-	5	403				TMEM234_ENST00000545122.1_Intron|TMEM234_ENST00000485689.1_5'UTR|TMEM234_ENST00000309777.6_Silent_p.S138S|TMEM234_ENST00000373593.1_3'UTR			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)		p.S138S(1)		kidney(2)|lung(3)	5						CTCAAAGGGTAGACTGTTGCC	0.572																																																1	Substitution - coding silent(1)	kidney(1)											83	73	77					1																	32682463		2203	4300	6503	SO:0001627	intron_variant	0			AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 91"	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742	ENST00000344461.3:c.387+26T>A	1.37:g.32682463A>T			B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Silent	SNP	ENST00000344461.3	37																																																																																					0.572	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		T	32682463	A	T	32682463	1	4	110	0	1	0	0	0	0	0	0	0	2070	407	15	5		5	C1orf91	1	32682463	Intron	SNP	A	TCGA-AK-3458-01A-01D-1501-10		32682463	216568158	1	6852											
CYB5R1	51706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202932810	202932810	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr1:202932810G>C	ENST00000367249.4	-	7	679	c.605C>G	c.(604-606)cCt>cGt	p.P202R	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	202					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.P202R(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TGGATCTTCAGGGACTTTCAG	0.512																																																1	Substitution - Missense(1)	kidney(1)											126	103	111					1																	202932810		2203	4300	6503	SO:0001583	missense	51706			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.605C>G	1.37:g.202932810G>C	ENSP00000356218:p.Pro202Arg		A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	CCDS1431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.41|19.41	3.822582|3.822582	0.71028|0.71028	.|.	.|.	ENSG00000159348|ENSG00000159348	ENST00000446185|ENST00000367249	.|D	.|0.94758	.|-3.51	5.93|5.93	3.95|3.95	0.45737|0.45737	.|Oxidoreductase FAD/NAD(P)-binding (1);	.|0.074673	.|0.52532	.|N	.|0.000072	D|D	0.96222|0.96222	0.8768|0.8768	M|M	0.79926|0.79926	2.475|2.475	0.52501|0.52501	D|D	0.999958|0.999958	.|D	.|0.58620	.|0.983	.|P	.|0.61658	.|0.892	D|D	0.96087|0.96087	0.9058|0.9058	5|10	.|0.87932	.|D	.|0	-2.4753|-2.4753	9.9037|9.9037	0.41364|0.41364	0.0:0.2805:0.5748:0.1447|0.0:0.2805:0.5748:0.1447	.|.	.|202	.|Q9UHQ9	.|NB5R1_HUMAN	V|R	134|202	.|ENSP00000356218:P202R	.|ENSP00000356218:P202R	L|P	-|-	1|2	2|0	CYB5R1|CYB5R1	201199433|201199433	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.972000|0.972000	0.66771|0.66771	2.937000|2.937000	0.48979|0.48979	1.461000|1.461000	0.47929|0.47929	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.512	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		C	202932810	G	C	202932810	3	2	110	1	0	0	0	0	1	0	0	0	4128	1000	35	4	324	4	CYB5R1	1	202932810	Missense_Mutation	SNP	G	TCGA-AK-3458-01A-01D-1501-10	170250347	202932810	46317811	2	6853											
PLXNA2	5362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	208215470	208215470	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr1:208215470T>C	ENST00000367033.3	-	22	5016	c.4259A>G	c.(4258-4260)aAg>aGg	p.K1420R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1420					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.K1420R(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGGGTGGTTCTTGTTCTCCAG	0.587																																																1	Substitution - Missense(1)	kidney(1)											77	78	78					1																	208215470		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4259A>G	1.37:g.208215470T>C	ENSP00000356000:p.Lys1420Arg		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925683	0.73213	.	.	ENSG00000076356	ENST00000367033	T	0.16457	2.34	5.16	5.16	0.70880	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.044822	0.85682	N	0.000000	T	0.23492	0.0568	L	0.48260	1.515	0.80722	D	1	P	0.40250	0.709	P	0.45099	0.469	T	0.01305	-1.1390	10	0.56958	D	0.05	.	15.005	0.71504	0.0:0.0:0.0:1.0	.	1420	O75051	PLXA2_HUMAN	R	1420	ENSP00000356000:K1420R	ENSP00000356000:K1420R	K	-	2	0	PLXNA2	206282093	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.648000	0.83479	1.941000	0.56285	0.379000	0.24179	AAG		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		C	208215470	T	C	208215470	3	2	110	1	0	0	0	0	1	0	0	0	12122	1609	56	3	1469	3	PLXNA2	1	208215470	Missense_Mutation	SNP	T	TCGA-AK-3458-01A-01D-1501-10	5282660	208215470	41035151	3	6854											
EPHX1	2052	broad.mit.edu	37	1	226032308	226032308	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr1:226032308A>G	ENST00000366837.4	+	8	1346	c.1150A>G	c.(1150-1152)Acc>Gcc	p.T384A	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.T384A	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	384					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.T384A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGGCTGGATGACCCAGAAGCA	0.622																																																1	Substitution - Missense(1)	kidney(1)											61	52	55					1																	226032308		2203	4300	6503	SO:0001583	missense	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1150A>G	1.37:g.226032308A>G	ENSP00000355802:p.Thr384Ala		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	A	7.350	0.622642	0.14193	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.26810	1.71;1.71	5.02	-6.24	0.02046	Alpha/beta hydrolase fold-1 (1);	2.299120	0.01467	N	0.016132	T	0.10895	0.0266	N	0.05230	-0.09	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44283	-0.9338	10	0.02654	T	1	-17.3512	12.3198	0.54979	0.7685:0.108:0.1236:0.0	.	384	P07099	HYEP_HUMAN	A	384	ENSP00000272167:T384A;ENSP00000355802:T384A	ENSP00000272167:T384A	T	+	1	0	EPHX1	224098931	0.000000	0.05858	0.000000	0.03702	0.872000	0.50106	-0.104000	0.10923	-0.877000	0.04012	-0.366000	0.07423	ACC		0.622	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		G	226032308	A	G	226032308	3	3	110	1	0	0	0	0	1	0	0	0	5181	275	10	3	1176	3	EPHX1	1	226032308	Missense_Mutation	SNP	A	TCGA-AK-3458-01A-01D-1501-10	17816838	226032308	23218313	4	6855											
HEATR1	55127	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	236740185	236740185	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr1:236740185C>A	ENST00000366582.3	-	21	2934	c.2820G>T	c.(2818-2820)caG>caT	p.Q940H	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q940H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	940					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.Q940H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCTGGAGACACTGAATGGCAG	0.403																																																1	Substitution - Missense(1)	kidney(1)											81	86	84					1																	236740185		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2820G>T	1.37:g.236740185C>A	ENSP00000355541:p.Gln940His		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	1.633	-0.518490	0.04171	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66460	-0.21;-0.21	5.36	-10.7	0.00240	Armadillo-like helical (1);Armadillo-type fold (2);	0.928471	0.09175	N	0.838270	T	0.34658	0.0905	N	0.04880	-0.145	0.41873	D	0.990286	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09037	-1.0693	10	0.14656	T	0.56	.	11.2315	0.48914	0.2822:0.0935:0.5702:0.0541	.	940;940	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	H	940	ENSP00000355541:Q940H;ENSP00000355540:Q940H	ENSP00000355540:Q940H	Q	-	3	2	HEATR1	234806808	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	-1.766000	0.01797	-2.755000	0.00372	-0.368000	0.07277	CAG		0.403	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		A	236740185	C	A	236740185	3	1	110	1	0	0	0	0	1	0	0	0	7029	564	20	4	3714	4	HEATR1	1	236740185	Missense_Mutation	SNP	C	TCGA-AK-3458-01A-01D-1501-10	10707877	236740185	12510436	5	6856											
C2orf39	92749	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	26647271	26647271	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr2:26647271C>A	ENST00000288710.2	+	4	563	c.489C>A	c.(487-489)caC>caA	p.H163Q		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	163					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.H163Q(1)									AACAGCTGCACTGTGCTGGAC	0.527																																																1	Substitution - Missense(1)	kidney(1)											82	78	79					2																	26647271		2203	4300	6503	SO:0001583	missense	0			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.489C>A	2.37:g.26647271C>A	ENSP00000288710:p.His163Gln		A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	7.228	0.598773	0.13939	.	.	ENSG00000157856	ENST00000288710	T	0.12984	2.63	5.43	-0.371	0.12525	.	0.365309	0.30392	N	0.009723	T	0.04003	0.0112	N	0.03177	-0.4	0.28781	N	0.899854	B	0.21753	0.06	B	0.26416	0.069	T	0.37126	-0.9719	10	0.12766	T	0.61	-25.9027	3.0159	0.06059	0.1223:0.4692:0.2403:0.1682	.	163	Q96MC2	CC164_HUMAN	Q	163	ENSP00000288710:H163Q	ENSP00000288710:H163Q	H	+	3	2	CCDC164	26500775	0.264000	0.24093	1.000000	0.80357	0.639000	0.38242	-0.727000	0.04931	0.244000	0.21351	-0.126000	0.14955	CAC		0.527	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		A	26647271	C	A	26647271	3	1	110	1	0	0	0	0	1	0	0	0	2166	564	20	4	503	4	C2orf39	2	26647271	Missense_Mutation	SNP	C	TCGA-AK-3458-01A-01D-1501-10		26647271	216552102	6	6857											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188203	10188205	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr3:10188203_10188205delCTT	ENST00000256474.2	+	2	1186_1188	c.346_348delCTT	c.(346-348)cttdel	p.L116del	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(3)|p.L116fs*43(3)|p.W117fs*14(2)|p.L116L(1)|p.L116V(1)|p.H115fs*15(1)|p.L116fs*16(1)|p.W117fs*40(1)|p.W117fs*42(1)|p.H115fs*41(1)|p.H115fs*42(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GATAGGTCACCTTTGGCTCTTCA	0.527		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	16	Deletion - Frameshift(10)|Unknown(3)|Substitution - Missense(1)|Substitution - coding silent(1)|Insertion - Frameshift(1)	kidney(16)	GRCh37	CM961424	VHL	M																																				SO:0001651	inframe_deletion	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.346_348delCTT	3.37:g.10188203_10188205delCTT	ENSP00000256474:p.Leu116del		B2RE45|Q13599|Q6PDA9	In_Frame_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188205	CTT	-	10188203	7	5	110	1	0	1	0	1	0	0	0	0	17167	681	24	0	352	0	VHL	3	10188203	In_Frame_Del	DEL	CTT	TCGA-AK-3458-01A-01D-1501-10		10188203	187834227	7	6858											
PRSS45	29122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	46783933	46783933	+	Intron	SNP	C	C	A			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr3:46783933C>A	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.K198N			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.K198N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCATTTGCTTCTTGATCCATT	0.567																																					Pancreas(41;915 1239 11561 17469)											1	Substitution - Missense(1)	kidney(1)											230	288	269					3																	46783933		2111	4250	6361	SO:0001627	intron_variant	377047			AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+6181G>T	3.37:g.46783933C>A				Missense_Mutation	SNP	ENST00000460241.1	37	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094184	0.36952	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.93189	-3.18	5.65	1.63	0.23807	.	0.961452	0.08644	N	0.915124	D	0.86083	0.5848	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.72157	-0.4375	9	0.25106	T	0.35	.	4.4084	0.11420	0.1487:0.4822:0.2884:0.0806	.	198	Q7RTY3-2	.	N	230;198	ENSP00000401932:K198N	ENSP00000330940:K230N	K	-	3	2	PRSS45	46758937	0.000000	0.05858	0.030000	0.17652	0.980000	0.70556	0.251000	0.18257	0.416000	0.25844	0.655000	0.94253	AAG		0.567	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			A	46783933	C	A	46783933	1	1	110	0	1	0	0	0	0	0	0	0	12634	912	32	4		4	PRSS45	3	46783933	Intron	SNP	C	TCGA-AK-3458-01A-01D-1501-10	36595730	46783933	151238497	8	6859											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52620525	52620525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr3:52620525delA	ENST00000296302.7	-	20	3304	c.3303delT	c.(3301-3303)tttfs	p.F1101fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.F1116fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.F1076fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.F1101fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.F1069fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.F1116fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.F1101fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.F1076fs			Q86U86	PB1_HUMAN	polybromo 1	1101					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGCATTTGCAAATACAGAGG	0.438			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													130	129	129					3																	52620525		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3303delT	3.37:g.52620525delA	ENSP00000296302:p.Phe1101fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52620525	A	-	52620525	7	5	110	1	0	1	0	1	0	0	0	0	11493	127	5	0	1641	0	PBRM1	3	52620525	Frame_Shift_Del	DEL	A	TCGA-AK-3458-01A-01D-1501-10	5836592	52620525	145401905	9	6860											
RPL34	6164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	109543328	109543328	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr4:109543328G>A	ENST00000394668.2	+	3	199	c.133G>A	c.(133-135)Gca>Aca	p.A45T	RPL34_ENST00000506397.1_Missense_Mutation_p.A45T|RPL34-AS1_ENST00000507248.1_lincRNA|RPL34_ENST00000394665.1_Missense_Mutation_p.A45T|RPL34_ENST00000502534.1_Missense_Mutation_p.A45T|RPL34_ENST00000394667.3_Missense_Mutation_p.A45T	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	45					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.A45T(1)		kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		ACCAAAATCTGCATGTGGTGT	0.453																																																1	Substitution - Missense(1)	kidney(1)											67	68	68					4																	109543328		2203	4299	6502	SO:0001583	missense	6164			AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"L ribosomal proteins"	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.133G>A	4.37:g.109543328G>A	ENSP00000378163:p.Ala45Thr		Q6FG66|Q9BUZ2	Missense_Mutation	SNP	ENST00000394668.2	37	CCDS3680.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086404	0.76642	.	.	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.27053	0.805	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.49428	-0.8941	9	0.52906	T	0.07	.	18.7612	0.91851	0.0:0.0:1.0:0.0	.	45	P49207	RL34_HUMAN	T	45	.	ENSP00000378160:A45T	A	+	1	0	RPL34	109762777	1.000000	0.71417	0.975000	0.42487	0.974000	0.67602	9.410000	0.97335	2.588000	0.87417	0.655000	0.94253	GCA		0.453	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	NM_033625, NM_000995		A	109543328	G	A	109543328	3	1	110	1	0	0	0	0	1	0	0	0	13589	1319	46	2	139	2	RPL34	4	109543328	Missense_Mutation	SNP	G	TCGA-AK-3458-01A-01D-1501-10		109543328	81610948	10	6861											
ELL2	22936	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	95242241	95242241	+	Missense_Mutation	SNP	C	C	A	rs368751191		TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr5:95242241C>A	ENST00000237853.4	-	5	1076	c.727G>T	c.(727-729)Gca>Tca	p.A243S	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	243					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.A243S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGCAGAATTGCTCCCAGGGAG	0.428																																																1	Substitution - Missense(1)	kidney(1)											93	100	98					5																	95242241		2203	4299	6502	SO:0001583	missense	22936			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.727G>T	5.37:g.95242241C>A	ENSP00000237853:p.Ala243Ser		B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	C	6.870	0.529910	0.13127	.	.	ENSG00000118985	ENST00000237853	T	0.28454	1.61	6.08	4.32	0.51571	.	0.315773	0.38720	N	0.001595	T	0.08044	0.0201	N	0.00368	-1.59	0.80722	D	1	B	0.16603	0.018	B	0.18263	0.021	T	0.30268	-0.9984	10	0.05721	T	0.95	-0.1821	14.1015	0.65059	0.0:0.9078:0.0:0.0922	.	243	O00472	ELL2_HUMAN	S	243	ENSP00000237853:A243S	ENSP00000237853:A243S	A	-	1	0	ELL2	95267997	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.281000	0.43452	0.911000	0.36747	0.591000	0.81541	GCA		0.428	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		A	95242241	C	A	95242241	3	1	110	1	0	0	0	0	1	0	0	0	5065	797	28	4	1227	4	ELL2	5	95242241	Missense_Mutation	SNP	C	TCGA-AK-3458-01A-01D-1501-10		95242241	85673019	11	6862											
TIGD6	81789	broad.mit.edu;ucsc.edu	37	5	149375454	149375454	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr5:149375454T>C	ENST00000296736.3	-	2	1232	c.458A>G	c.(457-459)gAt>gGt	p.D153G	TIGD6_ENST00000515406.2_Missense_Mutation_p.D153G	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	153						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D153G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATTAATCTTATCTATTCCTAG	0.413																																																1	Substitution - Missense(1)	kidney(1)											186	196	193					5																	149375454		2203	4300	6503	SO:0001583	missense	81789			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.458A>G	5.37:g.149375454T>C	ENSP00000296736:p.Asp153Gly		B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	ENST00000296736.3	37	CCDS4301.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.156732	0.38119	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.15952	2.38;2.38	4.69	4.69	0.59074	.	0.000000	0.35739	U	0.003017	T	0.18045	0.0433	N	0.08118	0	0.25349	N	0.988882	D	0.69078	0.997	D	0.63597	0.916	T	0.17715	-1.0360	10	0.23891	T	0.37	.	12.4362	0.55600	0.0:0.0:0.0:1.0	.	153	Q17RP2	TIGD6_HUMAN	G	153	ENSP00000296736:D153G;ENSP00000425318:D153G	ENSP00000296736:D153G	D	-	2	0	TIGD6	149355647	0.970000	0.33590	1.000000	0.80357	0.964000	0.63967	0.931000	0.28871	2.103000	0.63969	0.529000	0.55759	GAT		0.413	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		C	149375454	T	C	149375454	3	2	110	1	0	0	0	0	1	0	0	0	15905	1435	50	3	1111	3	TIGD6	5	149375454	Missense_Mutation	SNP	T	TCGA-AK-3458-01A-01D-1501-10	54133213	149375454	31539806	12	6863											
BTNL8	79908	broad.mit.edu;hgsc.bcm.edu	37	5	180377117	180377117	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr5:180377117G>A	ENST00000340184.4	+	8	1282	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	BTNL8_ENST00000505126.1_Missense_Mutation_p.R152Q|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.R243Q|BTNL8_ENST00000533815.2_Missense_Mutation_p.R175Q|BTNL8_ENST00000400707.3_Missense_Mutation_p.R234Q	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	359	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R359Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGTGTGCCGGGATGATGTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											148	146	147					5																	180377117		2123	3926	6049	SO:0001583	missense	79908			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1076G>A	5.37:g.180377117G>A	ENSP00000342197:p.Arg359Gln		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	8.888	0.953311	0.18431	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	1.89	0.913	0.19354	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.62011	0.2393	L	0.37800	1.135	0.09310	N	1	P;D;B	0.57257	0.896;0.979;0.253	B;P;B	0.51582	0.16;0.674;0.041	T	0.50508	-0.8820	9	0.31617	T	0.26	.	2.4348	0.04480	0.1838:0.0:0.5198:0.2963	.	234;243;359	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	Q	359;234;243;152;175	ENSP00000342197:R359Q;ENSP00000383543:R234Q;ENSP00000425207:R243Q;ENSP00000427441:R152Q;ENSP00000435098:R175Q	ENSP00000342197:R359Q	R	+	2	0	BTNL8	180309723	0.013000	0.17824	0.151000	0.22473	0.260000	0.26232	0.475000	0.22164	0.111000	0.17947	0.430000	0.28490	CGG		0.498	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		A	180377117	G	A	180377117	3	1	110	1	0	0	0	0	1	0	0	0	1569	1116	39	1	1262	1	BTNL8	5	180377117	Missense_Mutation	SNP	G	TCGA-AK-3458-01A-01D-1501-10	31001663	180377117	538143	13	6864											
SLC13A4	26266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	135370372	135370372	+	Silent	SNP	C	C	T			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr7:135370372C>T	ENST00000354042.4	-	14	2192	c.1503G>A	c.(1501-1503)ccG>ccA	p.P501P	C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	501					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.P501P(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TGACAGCCCACGGTGGGAGGC	0.542																																																1	Substitution - coding silent(1)	kidney(1)											192	169	177					7																	135370372		2203	4300	6503	SO:0001819	synonymous_variant	26266			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1503G>A	7.37:g.135370372C>T			A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	CCDS5840.1																																																																																				0.542	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		T	135370372	C	T	135370372	2	4	110	1	0	0	0	0	0	0	0	1	14400	523	19	1		1	SLC13A4	7	135370372	Silent	SNP	C	TCGA-AK-3458-01A-01D-1501-10		135370372	23768291	14	6865											
PLIN2	123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	19116637	19116637	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr9:19116637G>A	ENST00000276914.2	-	8	1102	c.923C>T	c.(922-924)tCa>tTa	p.S308L	PLIN2_ENST00000411567.1_Missense_Mutation_p.S227L	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	308					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S308L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AAGAGTACGTGACTCAATGTG	0.453																																																1	Substitution - Missense(1)	kidney(1)											107	95	99					9																	19116637		2203	4300	6503	SO:0001583	missense	123			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.923C>T	9.37:g.19116637G>A	ENSP00000276914:p.Ser308Leu		Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667724	0.67814	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.06218	3.33;3.33	6.0	6.0	0.97389	.	0.124032	0.56097	D	0.000027	T	0.25158	0.0611	M	0.69185	2.1	0.58432	D	0.999993	D	0.76494	0.999	D	0.74674	0.984	T	0.00039	-1.2243	10	0.33141	T	0.24	.	20.4945	0.99205	0.0:0.0:1.0:0.0	.	308	Q99541	PLIN2_HUMAN	L	227;308	ENSP00000415270:S227L;ENSP00000276914:S308L	ENSP00000276914:S308L	S	-	2	0	PLIN2	19106637	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	7.923000	0.87546	2.846000	0.97976	0.650000	0.86243	TCA		0.453	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		A	19116637	G	A	19116637	3	1	110	1	0	0	0	0	1	0	0	0	12092	1294	45	2	394	2	PLIN2	9	19116637	Missense_Mutation	SNP	G	TCGA-AK-3458-01A-01D-1501-10		19116637	122096794	15	6866											
UBE2R2	54926	broad.mit.edu;ucsc.edu	37	9	33817901	33817901	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr9:33817901C>T	ENST00000263228.3	+	1	337	c.146C>T	c.(145-147)cCc>cTc	p.P49L	RP11-133O22.6_ENST00000454429.2_RNA	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	49					protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.P49L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TTCGGACCCCCCAACACCCTC	0.657																																																1	Substitution - Missense(1)	kidney(1)											84	82	83					9																	33817901		2203	4300	6503	SO:0001583	missense	54926			AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"Ubiquitin-conjugating enzymes E2"	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797	ENST00000263228.3:c.146C>T	9.37:g.33817901C>T	ENSP00000263228:p.Pro49Leu		D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	c	33	5.198065	0.94997	.	.	ENSG00000107341	ENST00000263228	T	0.38077	1.16	4.67	4.67	0.58626	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.165784	0.53938	D	0.000041	T	0.65533	0.2700	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72776	-0.4191	10	0.87932	D	0	0.238	17.8196	0.88647	0.0:1.0:0.0:0.0	.	49	Q712K3	UB2R2_HUMAN	L	49	ENSP00000263228:P49L	ENSP00000263228:P49L	P	+	2	0	UBE2R2	33807901	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.680000	0.74518	2.438000	0.82558	0.645000	0.84053	CCC		0.657	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		T	33817901	C	T	33817901	3	4	110	1	0	0	0	0	1	0	0	0	16876	623	22	2	148	2	UBE2R2	9	33817901	Missense_Mutation	SNP	C	TCGA-AK-3458-01A-01D-1501-10	14701264	33817901	107395530	16	6867											
TNFSF15	9966	hgsc.bcm.edu;ucsc.edu	37	9	117552995	117552995	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr9:117552995T>A	ENST00000374045.4	-	4	606	c.493A>T	c.(493-495)Atc>Ttc	p.I165F	AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_Missense_Mutation_p.I88F	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	165					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GCTTGTCTGATTTCACTGCAC	0.512																																																0													192	161	171					9																	117552995		2203	4300	6503	SO:0001583	missense	9966			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"Tumor necrosis factor (ligand) superfamily"	11931	protein-coding gene	gene with protein product	"vascular endothelial cell growth inhibitor", "TNF superfamily ligand TL1A", "TNF ligand-related molecule 1", "vascular endothelial growth inhibitor-192A"	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.493A>T	9.37:g.117552995T>A	ENSP00000363157:p.Ile165Phe		Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	T	8.726	0.915450	0.17907	.	.	ENSG00000181634	ENST00000374045;ENST00000374044	T;T	0.35048	1.91;1.33	5.69	3.25	0.37280	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.182888	0.37955	N	0.001877	T	0.32556	0.0833	M	0.61703	1.905	0.09310	N	0.999995	P;B	0.37370	0.592;0.364	B;B	0.36134	0.218;0.106	T	0.26189	-1.0110	10	0.56958	D	0.05	-16.847	7.5044	0.27536	0.0:0.0735:0.2479:0.6786	.	165;106	O95150;O95150-2	TNF15_HUMAN;.	F	165;88	ENSP00000363157:I165F;ENSP00000363156:I88F	ENSP00000363156:I88F	I	-	1	0	TNFSF15	116592816	0.000000	0.05858	0.017000	0.16124	0.068000	0.16541	0.579000	0.23788	0.990000	0.38787	0.533000	0.62120	ATC		0.512	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		A	117552995	T	A	117552995	3	1	110	1	0	0	0	0	1	0	0	0	16313	1493	52	5	266	5	TNFSF15	9	117552995	Missense_Mutation	SNP	T	TCGA-AK-3458-01A-01D-1501-10	83735094	117552995	23660436	17	6868											
GTF3C4	9329	broad.mit.edu	37	9	135555166	135555166	+	Silent	SNP	A	A	G			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr9:135555166A>G	ENST00000372146.4	+	2	2724	c.2160A>G	c.(2158-2160)gaA>gaG	p.E720E		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	720					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.E720E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGTCTGATGAAGAGTATGATG	0.408																																					Pancreas(142;417 1875 11086 31973 47667)											1	Substitution - coding silent(1)	kidney(1)											72	71	72					9																	135555166		2203	4300	6503	SO:0001819	synonymous_variant	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.2160A>G	9.37:g.135555166A>G			Q5VZJ7	Silent	SNP	ENST00000372146.4	37	CCDS6953.1																																																																																				0.408	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			G	135555166	A	G	135555166	2	3	110	1	0	0	0	0	0	0	0	1	6877	69	3	3		3	GTF3C4	9	135555166	Silent	SNP	A	TCGA-AK-3458-01A-01D-1501-10	18002171	135555166	5658265	18	6869											
FRMPD2	143162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	49420118	49420118	+	Missense_Mutation	SNP	T	T	A	rs527289137		TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr10:49420118T>A	ENST00000374201.3	-	13	1792	c.1490A>T	c.(1489-1491)gAt>gTt	p.D497V	FRMPD2_ENST00000407470.4_Missense_Mutation_p.D465V|FRMPD2_ENST00000305531.3_Missense_Mutation_p.D472V	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	497	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.D497V(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGGGATGTAATCTTCAACGTG	0.542																																																1	Substitution - Missense(1)	kidney(1)											116	93	101					10																	49420118		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1490A>T	10.37:g.49420118T>A	ENSP00000363317:p.Asp497Val		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382061	0.61845	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.30182	1.54;1.54;1.54	5.28	2.97	0.34412	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.41282	0.1152	L	0.45285	1.41	0.46222	D	0.998935	D;D;D	0.67145	0.996;0.979;0.996	D;P;D	0.70016	0.967;0.821;0.955	T	0.10268	-1.0637	9	0.48119	T	0.1	.	7.592	0.28027	0.0:0.1673:0.0:0.8327	.	472;497;465	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	V	497;472;465	ENSP00000363317:D497V;ENSP00000307079:D472V;ENSP00000384339:D465V	ENSP00000307079:D472V	D	-	2	0	FRMPD2	49090124	1.000000	0.71417	0.988000	0.46212	0.795000	0.44927	2.933000	0.48948	0.351000	0.24027	0.459000	0.35465	GAT		0.542	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		A	49420118	T	A	49420118	3	1	110	1	0	0	0	0	1	0	0	0	6060	1435	50	5	2507	5	FRMPD2	10	49420118	Missense_Mutation	SNP	T	TCGA-AK-3458-01A-01D-1501-10		49420118	86114629	19	6870											
PTPRCAP	5790	broad.mit.edu	37	11	67203476	67203476	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr11:67203476G>T	ENST00000326294.3	-	2	796	c.349C>A	c.(349-351)Cac>Aac	p.H117N	AP003419.16_ENST00000535922.1_RNA|CORO1B_ENST00000539724.1_5'Flank	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	117					defense response (GO:0006952)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H117N(1)		skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCGCGACGTGGTCATAGTCT	0.667																																																1	Substitution - Missense(1)	kidney(1)											78	61	66					11																	67203476		2200	4295	6495	SO:0001583	missense	5790				CCDS8163.1	11q13.2	2011-06-09			ENSG00000213402	ENSG00000213402			9667	protein-coding gene	gene with protein product		601577					Standard	NM_005608		Approved	LPAP, CD45-AP	uc001oli.1	Q14761	OTTHUMG00000150325	ENST00000326294.3:c.349C>A	11.37:g.67203476G>T	ENSP00000325589:p.His117Asn		B2R512|O00643|Q6I9S6	Missense_Mutation	SNP	ENST00000326294.3	37	CCDS8163.1	.	.	.	.	.	.	.	.	.	.	G	8.717	0.913429	0.17907	.	.	ENSG00000213402	ENST00000326294	T	0.46451	0.87	3.69	-6.58	0.01836	.	1.183380	0.06861	U	0.799154	T	0.19327	0.0464	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.16660	-1.0395	10	0.25106	T	0.35	-2.5126	2.0133	0.03493	0.1749:0.493:0.1053:0.2268	.	117	Q14761	PTCA_HUMAN	N	117	ENSP00000325589:H117N	ENSP00000325589:H117N	H	-	1	0	PTPRCAP	66960052	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.776000	0.04674	-1.089000	0.03073	-1.263000	0.01449	CAC		0.667	PTPRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317563.1	NM_005608		T	67203476	G	T	67203476	3	4	110	1	0	0	0	0	1	0	0	0	12804	1348	47	4	275	4	PTPRCAP	11	67203476	Missense_Mutation	SNP	G	TCGA-AK-3458-01A-01D-1501-10		67203476	67803040	20	6871											
BTG4	54766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111368759	111368759	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr11:111368759A>G	ENST00000356018.2	-	3	474	c.275T>C	c.(274-276)aTg>aCg	p.M92T	BTG4_ENST00000525791.1_Missense_Mutation_p.M92T	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	92					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)			p.M92T(1)		large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		CCATATGGTCATCTCCTTCGG	0.398																																																1	Substitution - Missense(1)	kidney(1)											191	160	170					11																	111368759		2201	4297	6498	SO:0001583	missense	54766			AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.275T>C	11.37:g.111368759A>G	ENSP00000348300:p.Met92Thr		Q8NEH7	Missense_Mutation	SNP	ENST00000356018.2	37	CCDS8346.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702616	0.68501	.	.	ENSG00000137707	ENST00000356018;ENST00000525791;ENST00000456861	.	.	.	5.2	5.2	0.72013	Anti-proliferative protein (4);	0.038999	0.85682	D	0.000000	T	0.72003	0.3407	M	0.78049	2.395	0.80722	D	1	B;P	0.48350	0.14;0.909	B;P	0.50537	0.351;0.643	T	0.76661	-0.2877	9	0.62326	D	0.03	.	14.7504	0.69522	1.0:0.0:0.0:0.0	.	92;92	Q8NEH7;Q9NY30	.;BTG4_HUMAN	T	92	.	ENSP00000348300:M92T	M	-	2	0	BTG4	110873969	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.971000	0.88012	1.977000	0.57605	0.533000	0.62120	ATG		0.398	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391177.1			G	111368759	A	G	111368759	3	3	110	1	0	0	0	0	1	0	0	0	1558	217	8	3	412	3	BTG4	11	111368759	Missense_Mutation	SNP	A	TCGA-AK-3458-01A-01D-1501-10	44165283	111368759	23637757	21	6872											
USP28	57646	broad.mit.edu;ucsc.edu	37	11	113701632	113701632	+	Silent	SNP	C	C	A			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr11:113701632C>A	ENST00000003302.4	-	9	935	c.867G>T	c.(865-867)gtG>gtT	p.V289V	USP28_ENST00000545540.1_Silent_p.V164V|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Silent_p.V289V|USP28_ENST00000260188.5_Silent_p.V289V|USP28_ENST00000544967.1_5'Flank	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	289	USP.			VQLFYGTFLTEGVRE -> IVIVMSFLKSLSLCL (in Ref. 4; BAA96039). {ECO:0000305}.	cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V289V(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGAACAGCTGCACCATTGGAT	0.373																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											1	Substitution - coding silent(1)	kidney(1)											171	162	165					11																	113701632		2201	4296	6497	SO:0001819	synonymous_variant	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.867G>T	11.37:g.113701632C>A			B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	CCDS31680.1																																																																																				0.373	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			A	113701632	C	A	113701632	2	1	110	1	0	0	0	0	0	0	0	1	17063	697	25	4		4	USP28	11	113701632	Silent	SNP	C	TCGA-AK-3458-01A-01D-1501-10	2332873	113701632	21304884	22	6873											
TECTA	7007	hgsc.bcm.edu;ucsc.edu	37	11	121030869	121030870	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr11:121030869_121030870insAT	ENST00000392793.1	+	15	4986_4987	c.4715_4716insAT	c.(4714-4719)ccatttfs	p.F1573fs	TECTA_ENST00000264037.2_Frame_Shift_Ins_p.F1573fs			O75443	TECTA_HUMAN	tectorin alpha	1573	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGAATGTTCCATTTATAACTG	0.431																																																0																																										SO:0001589	frameshift_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4716_4717dupAT	11.37:g.121030870_121030871dupAT	ENSP00000376543:p.Phe1573fs			Frame_Shift_Ins	INS	ENST00000392793.1	37	CCDS8434.1																																																																																				0.431	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		AT	121030870	-	AT	121030869	7	5	110	1	0	1	1	0	0	0	0	0	15752	594	21	0	4769	0	TECTA	11	121030869	Frame_Shift_Ins	INS	-	TCGA-AK-3458-01A-01D-1501-10	7329237	121030869	13975647	23	6874											
PLXNC1	10154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	94673352	94673352	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr12:94673352A>C	ENST00000258526.4	+	22	3951	c.3702A>C	c.(3700-3702)aaA>aaC	p.K1234N	RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.K281N|RP11-1105G2.3_ENST00000547927.1_5'Flank|RP11-1105G2.4_ENST00000550111.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1234					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.K1234N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCCAAGCCAAAGAAAAGATTT	0.433																																																1	Substitution - Missense(1)	kidney(1)											100	97	98					12																	94673352		2203	4300	6503	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3702A>C	12.37:g.94673352A>C	ENSP00000258526:p.Lys1234Asn		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768437	0.69878	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.23754	1.89;1.89	5.28	2.9	0.33743	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53760	-0.8393	10	0.87932	D	0	.	6.7487	0.23475	0.7544:0.0:0.2456:0.0	.	281;1234	B4DHQ7;O60486	.;PLXC1_HUMAN	N	1234;281	ENSP00000258526:K1234N;ENSP00000446720:K281N	ENSP00000258526:K1234N	K	+	3	2	PLXNC1	93197483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.881000	0.39638	1.020000	0.39573	0.533000	0.62120	AAA		0.433	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			C	94673352	A	C	94673352	3	2	110	1	0	0	0	0	1	0	0	0	12128	69	3	5	3788	5	PLXNC1	12	94673352	Missense_Mutation	SNP	A	TCGA-AK-3458-01A-01D-1501-10		94673352	39178543	24	6875											
HAUS4	54930	hgsc.bcm.edu;ucsc.edu	37	14	23421803	23421806	+	Frame_Shift_Del	DEL	GTGA	GTGA	-			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	GTGA	GTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr14:23421803_23421806delGTGA	ENST00000206474.7	-	3	394_397	c.142_145delTCAC	c.(142-147)tcacagfs	p.SQ48fs	HAUS4_ENST00000342454.8_Frame_Shift_Del_p.SQ48fs|HAUS4_ENST00000555367.1_Frame_Shift_Del_p.SQ48fs|HAUS4_ENST00000490506.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555986.1_Frame_Shift_Del_p.SQ48fs|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000397409.4_Frame_Shift_Del_p.SQ48fs|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000541587.1_Frame_Shift_Del_p.SQ48fs|HAUS4_ENST00000347758.2_Frame_Shift_Del_p.SQ48fs			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	48					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCCACATGCTGTGAGAGATTCAGG	0.471																																																0																																										SO:0001589	frameshift_variant	54930			AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"HAUS augmin-like complex subunits"	20163	protein-coding gene	gene with protein product		613431	"chromosome 14 open reading frame 94"	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.142_145delTCAC	14.37:g.23421803_23421806delGTGA	ENSP00000206474:p.Ser48fs		B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Frame_Shift_Del	DEL	ENST00000206474.7	37	CCDS9580.1																																																																																				0.471	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			-	23421806	GTGA	-	23421803	7	5	110	1	0	1	0	1	0	0	0	0	6970	1386	48	0	978	0	HAUS4	14	23421803	Frame_Shift_Del	DEL	GTGA	TCGA-AK-3458-01A-01D-1501-10		23421803	83927737	25	6876											
ADCK1	57143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	78365584	78365584	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr14:78365584C>G	ENST00000238561.5	+	6	823	c.724C>G	c.(724-726)Cat>Gat	p.H242D	ADCK1_ENST00000341211.5_Missense_Mutation_p.H174D	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	249	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H174D(1)|p.H242D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GATGCTCAGGCATTTTGACTT	0.512																																																2	Substitution - Missense(2)	kidney(2)											153	134	140					14																	78365584		2203	4300	6503	SO:0001583	missense	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.724C>G	14.37:g.78365584C>G	ENSP00000238561:p.His242Asp		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	C	9.868	1.198270	0.22037	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.52057	0.68;0.68;0.68	5.61	4.69	0.59074	.	0.299800	0.41396	D	0.000881	T	0.24275	0.0588	N	0.04063	-0.285	0.37033	D	0.896761	B;B	0.14012	0.009;0.004	B;B	0.21360	0.034;0.013	T	0.15867	-1.0422	10	0.08381	T	0.77	-4.7631	13.9936	0.64382	0.3347:0.6653:0.0:0.0	.	174;242	Q9UIE6;Q86TW2-2	.;.	D	242;242;174	ENSP00000238561:H242D;ENSP00000451549:H242D;ENSP00000339663:H174D	ENSP00000238561:H242D	H	+	1	0	ADCK1	77435337	0.930000	0.31532	1.000000	0.80357	0.937000	0.57800	1.541000	0.36126	2.641000	0.89580	0.591000	0.81541	CAT		0.512	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		G	78365584	C	G	78365584	3	3	110	1	0	0	0	0	1	0	0	0	288	710	25	4	742	4	ADCK1	14	78365584	Missense_Mutation	SNP	C	TCGA-AK-3458-01A-01D-1501-10	54943781	78365584	28983956	26	6877											
HERC2	8924	broad.mit.edu;hgsc.bcm.edu	37	15	28515959	28515959	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr15:28515959G>A	ENST00000261609.7	-	10	1247	c.1139C>T	c.(1138-1140)cCa>cTa	p.P380L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P380L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTTGTCTTGTGGAAGGGTGAG	0.493																																																1	Substitution - Missense(1)	kidney(1)											69	52	58					15																	28515959		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1139C>T	15.37:g.28515959G>A	ENSP00000261609:p.Pro380Leu			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573379	0.96553	.	.	ENSG00000128731	ENST00000261609	T	0.80738	-1.41	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.89993	0.6876	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.90218	0.4269	10	0.72032	D	0.01	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	380	O95714	HERC2_HUMAN	L	380	ENSP00000261609:P380L	ENSP00000261609:P380L	P	-	2	0	HERC2	26189554	1.000000	0.71417	0.853000	0.33588	0.924000	0.55760	9.852000	0.99516	2.706000	0.92434	0.650000	0.86243	CCA		0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28515959	G	A	28515959	3	1	110	1	0	0	0	0	1	0	0	0	7060	1348	47	2	13701	2	HERC2	15	28515959	Missense_Mutation	SNP	G	TCGA-AK-3458-01A-01D-1501-10		28515959	74015433	27	6878											
CCDC144A	9720	broad.mit.edu	37	17	16664760	16664760	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr17:16664760G>A	ENST00000360524.8	+	13	3470	c.3394G>A	c.(3394-3396)Gaa>Aaa	p.E1132K	CCDC144A_ENST00000399273.1_Missense_Mutation_p.E1132K|CCDC144A_ENST00000456009.1_Missense_Mutation_p.E898K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E1132K|CCDC144A_ENST00000443444.2_Missense_Mutation_p.E1132K	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1132								p.E1132K(1)									AGAAGCACAGGAAACTGTACC	0.333																																																1	Substitution - Missense(1)	kidney(1)											6	7	6					17																	16664760		1578	3633	5211	SO:0001583	missense	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3394G>A	17.37:g.16664760G>A	ENSP00000353717:p.Glu1132Lys		O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	6.681	0.494324	0.12702	.	.	ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009	T;T;T;T	0.02763	4.18;4.17;4.17;4.17	2.1	2.1	0.27182	.	.	.	.	.	T	0.02970	0.0088	N	0.25485	0.75	0.09310	N	0.999999	B;P	0.36222	0.244;0.544	B;B	0.38655	0.113;0.278	T	0.48175	-0.9058	9	0.37606	T	0.19	.	9.8677	0.41154	0.0:0.0:1.0:0.0	.	898;1132	A2RUR9-3;A2RUR9	.;C144A_HUMAN	K	1132;1132;1132;898	ENSP00000382215:E1132K;ENSP00000439262:E1132K;ENSP00000353717:E1132K;ENSP00000394201:E898K	ENSP00000353717:E1132K	E	+	1	0	CCDC144A	16605485	1.000000	0.71417	0.015000	0.15790	0.081000	0.17604	3.900000	0.56295	1.160000	0.42584	0.184000	0.17185	GAA		0.333	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			A	16664760	G	A	16664760	3	1	110	1	0	0	0	0	1	0	0	0	2779	1175	41	2	3444	2	CCDC144A	17	16664760	Missense_Mutation	SNP	G	TCGA-AK-3458-01A-01D-1501-10		16664760	64530450	28	6879											
RIOK3	8780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	21043937	21043937	+	Silent	SNP	T	T	C			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr18:21043937T>C	ENST00000339486.3	+	3	803	c.186T>C	c.(184-186)gcT>gcC	p.A62A	RIOK3_ENST00000577501.1_Silent_p.A62A|RIOK3_ENST00000581585.1_Intron	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	62					chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A62A(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATAGTGTTGCTGAAGGACCAT	0.373																																																1	Substitution - coding silent(1)	kidney(1)											137	133	134					18																	21043937		2203	4300	6503	SO:0001819	synonymous_variant	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.186T>C	18.37:g.21043937T>C			Q8IXN9	Silent	SNP	ENST00000339486.3	37	CCDS11877.1																																																																																				0.373	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		C	21043937	T	C	21043937	2	2	110	1	0	0	0	0	0	0	0	1	13385	1567	55	3		3	RIOK3	18	21043937	Silent	SNP	T	TCGA-AK-3458-01A-01D-1501-10		21043937	57033311	29	6880											
CNDP1	84735	broad.mit.edu	37	18	72234669	72234669	+	Splice_Site	SNP	G	G	T			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr18:72234669G>T	ENST00000358821.3	+	6	984		c.e6+1		CNDP1_ENST00000582365.1_Splice_Site	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)							extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CATGGTGGAGGTATCCACAGA	0.502																																					Melanoma(32;1029 1042 25286 38395 44237)											1	Unknown(1)	kidney(1)											73	67	69					18																	72234669		2203	4300	6503	SO:0001630	splice_region_variant	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.756+1G>T	18.37:g.72234669G>T			Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Splice_Site	SNP	ENST00000358821.3	37	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173117	0.38413	.	.	ENSG00000150656	ENST00000358821	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3473	0.90326	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNDP1	70385649	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	7.284000	0.78650	2.431000	0.82371	0.585000	0.79938	.		0.502	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649	Intron	T	72234669	G	T	72234669	5	4	110	1	0	0	0	0	0	0	1	0	3595	1275	44	4	779	4	CNDP1	18	72234669	Splice_Site	SNP	G	TCGA-AK-3458-01A-01D-1501-10	51190732	72234669	5842579	30	6881											
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57329187	57329187	+	Silent	SNP	G	G	A	rs142177720		TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chr19:57329187G>A	ENST00000326441.9	-	9	1152	c.789C>T	c.(787-789)gaC>gaT	p.D263D	PEG3_ENST00000598410.1_Silent_p.D139D|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.D263D|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.D137D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	263					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D263D(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGTGGCCATCGTCTTCAGCAA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19337	0.0		0.001	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)											148	107	121					19																	57329187		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.789C>T	19.37:g.57329187G>A			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.502	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			A	57329187	G	A	57329187	2	1	110	1	0	0	0	0	0	0	0	1	11722	1136	40	1		1	PEG3	19	57329187	Silent	SNP	G	TCGA-AK-3458-01A-01D-1501-10		57329187	1799796	31	6882											
KDM5C	8242	broad.mit.edu;ucsc.edu	37	X	53244975	53244975	+	Splice_Site	SNP	A	A	G			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chrX:53244975A>G	ENST00000375401.3	-	7	1496		c.e7+1		KDM5C_ENST00000375383.3_Splice_Site|KDM5C_ENST00000452825.3_Splice_Site|KDM5C_ENST00000375379.3_Splice_Site|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000404049.3_Splice_Site	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C						histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.?(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTGGGTCCTTACAAACTGGGC	0.532			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Unknown(2)	kidney(2)											238	162	188					X																	53244975		2203	4300	6503	SO:0001630	splice_region_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.963+1T>C	X.37:g.53244975A>G			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Splice_Site	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169511	0.57584	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	5.45	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8527	0.35210	0.8298:0.0:0.0:0.1702	.	.	.	.	.	-1	.	.	.	-	.	.	KDM5C	53261700	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.502000	0.90505	0.659000	0.30945	0.430000	0.28490	.		0.532	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	Intron	G	53244975	A	G	53244975	5	3	110	1	0	0	0	0	0	0	1	0	8137	405	14	3	3895	3	KDM5C	23	53244975	Splice_Site	SNP	A	TCGA-AK-3458-01A-01D-1501-10		53244975	102025585	32	6883											
AMOT	154796	broad.mit.edu	37	X	112048309	112048309	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3458-01A-01D-1501-10	TCGA-AK-3458-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0198f3c3-78f2-4c19-90d5-c77b74044ca2	30e43131-d7aa-407d-9bed-28ae34db1b68	g.chrX:112048309G>C	ENST00000524145.1	-	6	1716	c.1642C>G	c.(1642-1644)Cag>Gag	p.Q548E	AMOT_ENST00000371959.3_Missense_Mutation_p.Q548E|AMOT_ENST00000371962.1_Missense_Mutation_p.Q316E|AMOT_ENST00000371958.1_Missense_Mutation_p.Q316E|AMOT_ENST00000304758.1_Missense_Mutation_p.Q139E			Q4VCS5	AMOT_HUMAN	angiomotin	548					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q139E(1)|p.Q548E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTCTCACGCTGGCTTTCTTTA	0.493																																																2	Substitution - Missense(2)	kidney(2)											191	169	176					X																	112048309		2203	4300	6503	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1642C>G	X.37:g.112048309G>C	ENSP00000429013:p.Gln548Glu		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	g	14.08	2.427288	0.43122	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.96	5.09	0.68999	.	0.467991	0.25138	N	0.032844	T	0.23094	0.0558	M	0.74258	2.255	0.44908	D	0.997926	P	0.39391	0.671	B	0.29077	0.098	T	0.17228	-1.0376	10	0.02654	T	1	-2.7811	14.594	0.68392	0.0:0.0:0.8533:0.1467	.	548	Q4VCS5	AMOT_HUMAN	E	139;548;316;548;316	ENSP00000305557:Q139E;ENSP00000361027:Q548E;ENSP00000361030:Q316E;ENSP00000429013:Q548E;ENSP00000361026:Q316E	ENSP00000305557:Q139E	Q	-	1	0	AMOT	111934965	1.000000	0.71417	0.846000	0.33378	0.991000	0.79684	4.712000	0.61888	1.247000	0.43917	0.597000	0.82753	CAG		0.493	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		C	112048309	G	C	112048309	3	2	110	1	0	0	0	0	1	0	0	0	582	1357	47	4	1640	4	AMOT	23	112048309	Missense_Mutation	SNP	G	TCGA-AK-3458-01A-01D-1501-10	58803334	112048309	43222251	33	6884											
MSH4	4438	hgsc.bcm.edu	37	1	76282224	76282224	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:76282224G>T	ENST00000263187.3	+	6	1086	c.982G>T	c.(982-984)Gac>Tac	p.D328Y		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	328					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TAATAATCAAGACTATAGGTA	0.274								Mismatch excision repair (MMR)																																								0													51	52	52					1																	76282224		2203	4299	6502	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.982G>T	1.37:g.76282224G>T	ENSP00000263187:p.Asp328Tyr		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616507	0.66672	.	.	ENSG00000057468	ENST00000263187	D	0.93076	-3.16	5.44	5.44	0.79542	DNA mismatch repair protein MutS, core (2);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	M	0.76328	2.33	0.50467	D	0.999873	P	0.34909	0.475	P	0.45167	0.472	D	0.94406	0.7627	10	0.72032	D	0.01	-13.4764	19.2675	0.93996	0.0:0.0:1.0:0.0	.	328	O15457	MSH4_HUMAN	Y	328	ENSP00000263187:D328Y	ENSP00000263187:D328Y	D	+	1	0	MSH4	76054812	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.306000	0.72810	2.573000	0.86826	0.655000	0.94253	GAC		0.274	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		T	76282224	G	T	76282224	3	4	111	1	0	0	0	0	1	0	0	0	9874	942	33	4	1004	4	MSH4	1	76282224	Missense_Mutation	SNP	G	TCGA-AK-3460-01A-02D-1361-10		76282224	172968397	1	6885											
AP4B1	10717	hgsc.bcm.edu;ucsc.edu	37	1	114447239	114447239	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:114447239T>A	ENST00000369569.1	-	1	381	c.101A>T	c.(100-102)cAg>cTg	p.Q34L	AP4B1_ENST00000369567.1_Missense_Mutation_p.Q34L|AP4B1_ENST00000369566.3_Missense_Mutation_p.Q34L|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000256658.4_Missense_Mutation_p.Q34L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	34					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATCACTCGCTGGATGACATT	0.542																																																0													344	307	320					1																	114447239		2203	4300	6503	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.101A>T	1.37:g.114447239T>A	ENSP00000358582:p.Gln34Leu		B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192321	0.21954	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T;T	0.26067	1.76;1.77;1.77;1.77;2.66;1.76;1.77	5.28	5.28	0.74379	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.149391	0.53938	D	0.000047	T	0.07369	0.0186	N	0.17278	0.47	0.25276	N	0.989475	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.12156	0.001;0.005;0.007	T	0.14811	-1.0459	10	0.87932	D	0	-14.4852	11.2134	0.48813	0.1373:0.0:0.0:0.8627	.	34;34;34	B7Z4X3;B1ALD0;Q9Y6B7	.;.;AP4B1_HUMAN	L	34	ENSP00000358580:Q34L;ENSP00000358582:Q34L;ENSP00000256658:Q34L;ENSP00000358579:Q34L;ENSP00000358577:Q34L;ENSP00000393622:Q34L;ENSP00000358584:Q34L	ENSP00000256658:Q34L	Q	-	2	0	AP4B1	114248762	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.645000	0.46621	2.123000	0.65237	0.459000	0.35465	CAG		0.542	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		A	114447239	T	A	114447239	3	1	111	1	0	0	0	0	1	0	0	0	751	1580	55	5	2158	5	AP4B1	1	114447239	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10	38165015	114447239	134803382	2	6886											
NES	10763	hgsc.bcm.edu	37	1	156640157	156640157	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:156640157G>A	ENST00000368223.3	-	4	3955	c.3823C>T	c.(3823-3825)Ccc>Tcc	p.P1275S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1275	Tail.		P -> L (in dbSNP:rs3748570). {ECO:0000269|PubMed:1478958, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:21406692}.		brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTCCTGGGGGCCCTCGGGG	0.652																																																0													74	87	82					1																	156640157		2203	4300	6503	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3823C>T	1.37:g.156640157G>A	ENSP00000357206:p.Pro1275Ser		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382819	0.25031	.	.	ENSG00000132688	ENST00000368223	D	0.85556	-2.0	4.95	3.81	0.43845	.	0.000000	0.29348	N	0.012416	T	0.56171	0.1967	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.56220	-0.8015	10	0.87932	D	0	.	11.0491	0.47876	0.1074:0.0:0.8926:0.0	.	1275	P48681	NEST_HUMAN	S	1275	ENSP00000357206:P1275S	ENSP00000357206:P1275S	P	-	1	0	NES	154906781	0.851000	0.29673	1.000000	0.80357	0.346000	0.29079	1.651000	0.37302	2.285000	0.76669	0.557000	0.71058	CCC		0.652	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		A	156640157	G	A	156640157	3	1	111	1	0	0	0	0	1	0	0	0	10339	1232	43	2	1046	2	NES	1	156640157	Missense_Mutation	SNP	G	TCGA-AK-3460-01A-02D-1361-10	42192918	156640157	92610464	3	6887											
OLFML2B	25903	hgsc.bcm.edu;ucsc.edu	37	1	161953696	161953696	+	Silent	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:161953696G>A	ENST00000294794.3	-	8	2445	c.2022C>T	c.(2020-2022)ggC>ggT	p.G674G	OLFML2B_ENST00000367940.2_Silent_p.G675G|OLFML2B_ENST00000367938.1_Silent_p.G157G	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	674	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGAAGCAGTTGCCGTAGAAAT	0.567																																																0													190	174	179					1																	161953696		2203	4300	6503	SO:0001819	synonymous_variant	25903			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2022C>T	1.37:g.161953696G>A			B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	CCDS1236.1																																																																																				0.567	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		A	161953696	G	A	161953696	2	1	111	1	0	0	0	0	0	0	0	1	10860	1306	46	2		2	OLFML2B	1	161953696	Silent	SNP	G	TCGA-AK-3460-01A-02D-1361-10	5313539	161953696	87296925	4	6888											
RXRG	6258	hgsc.bcm.edu	37	1	165398156	165398156	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:165398156A>C	ENST00000359842.5	-	2	399	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	33	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CCTGTGGACAAGGCTGCTGAT	0.587																																																0													63	55	58					1																	165398156		2203	4300	6503	SO:0001583	missense	6258			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.97T>G	1.37:g.165398156A>C	ENSP00000352900:p.Leu33Val		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	A	8.243	0.807289	0.16467	.	.	ENSG00000143171	ENST00000359842	D	0.92149	-2.98	4.71	-0.379	0.12493	.	0.845551	0.10190	N	0.704793	T	0.67942	0.2947	N	0.22421	0.69	0.35298	D	0.782795	B	0.02656	0.0	B	0.04013	0.001	T	0.42361	-0.9456	9	0.13853	T	0.58	.	4.9662	0.14091	0.3328:0.1954:0.4719:0.0	.	33	P48443	RXRG_HUMAN	V	33	ENSP00000352900:L33V	ENSP00000352900:L33V	L	-	1	2	RXRG	163664780	0.918000	0.31147	1.000000	0.80357	0.993000	0.82548	-0.019000	0.12546	0.313000	0.23062	0.459000	0.35465	TTG		0.587	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		C	165398156	A	C	165398156	3	2	111	1	0	0	0	0	1	0	0	0	13771	69	3	5	1330	5	RXRG	1	165398156	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	3444460	165398156	83852465	5	6889											
RFWD2	64326	hgsc.bcm.edu;ucsc.edu	37	1	176132093	176132093	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:176132093C>A	ENST00000367669.3	-	5	1188	c.674G>T	c.(673-675)tGg>tTg	p.W225L	RFWD2_ENST00000308769.8_Missense_Mutation_p.W221L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	225					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGTTCCCAACCAATCTTGAAA	0.378																																					Ovarian(134;1413 1765 5706 35534 51541)											0													90	87	88					1																	176132093		2203	4300	6503	SO:0001583	missense	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.674G>T	1.37:g.176132093C>A	ENSP00000356641:p.Trp225Leu		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	2.698	-0.271694	0.05716	.	.	ENSG00000143207	ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306;ENST00000436424	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	5.65	4.52	0.55395	.	0.246394	0.34435	N	0.003972	T	0.02929	0.0087	N	0.00583	-1.355	0.21020	N	0.9998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40979	-0.9534	10	0.09590	T	0.72	0.0382	12.6729	0.56876	0.8606:0.1394:0.0:0.0	.	221;225;225	Q8NHY2-2;Q8NHY2;Q504W6	.;RFWD2_HUMAN;.	L	225;80;221;84;225	ENSP00000356641:W225L;ENSP00000356638:W80L;ENSP00000310943:W221L;ENSP00000433810:W84L	ENSP00000310943:W221L	W	-	2	0	RFWD2	174398716	1.000000	0.71417	0.578000	0.28575	0.983000	0.72400	5.740000	0.68629	0.974000	0.38366	-0.347000	0.07816	TGG		0.378	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		A	176132093	C	A	176132093	3	1	111	1	0	0	0	0	1	0	0	0	13266	595	21	4	1585	4	RFWD2	1	176132093	Missense_Mutation	SNP	C	TCGA-AK-3460-01A-02D-1361-10	10733937	176132093	73118528	6	6890											
TP53BP2	7159	hgsc.bcm.edu	37	1	223986157	223986157	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:223986157G>T	ENST00000343537.7	-	12	1999	c.1708C>A	c.(1708-1710)Caa>Aaa	p.Q570K	TP53BP2_ENST00000391878.2_Missense_Mutation_p.Q441K|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	564					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTCTGGTCTTGGCCAACCGAA	0.547																																																0													163	175	171					1																	223986157		2203	4300	6503	SO:0001583	missense	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1708C>A	1.37:g.223986157G>T	ENSP00000341957:p.Gln570Lys		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640105	0.47153	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.47177	0.85;1.02	5.88	5.88	0.94601	.	0.192439	0.37012	N	0.002294	T	0.47875	0.1469	M	0.63428	1.95	0.80722	D	1	B;B	0.32245	0.361;0.061	B;B	0.27608	0.081;0.024	T	0.44345	-0.9334	10	0.45353	T	0.12	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	570;564	B4DG66;Q13625	.;ASPP2_HUMAN	K	441;570	ENSP00000375750:Q441K;ENSP00000341957:Q570K	ENSP00000341957:Q570K	Q	-	1	0	TP53BP2	222052780	1.000000	0.71417	0.912000	0.35992	0.280000	0.26924	8.539000	0.90637	2.782000	0.95742	0.655000	0.94253	CAA		0.547	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		T	223986157	G	T	223986157	3	4	111	1	0	0	0	0	1	0	0	0	16389	1357	47	4	1724	4	TP53BP2	1	223986157	Missense_Mutation	SNP	G	TCGA-AK-3460-01A-02D-1361-10	47854064	223986157	25264464	7	6891											
THNSL2	55258	hgsc.bcm.edu	37	2	88485426	88485426	+	Silent	SNP	G	G	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr2:88485426G>T	ENST00000324166.5	+	8	2930	c.1239G>T	c.(1237-1239)cgG>cgT	p.R413R	THNSL2_ENST00000377254.3_Missense_Mutation_p.V363L|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000449349.1_Missense_Mutation_p.G239V|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000358591.2_Silent_p.R413R	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	413					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCACTCCCCGGTGCTGCCTCG	0.622																																																0													16	20	19					2																	88485426		2128	4238	6366	SO:0001819	synonymous_variant	55258				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1239G>T	2.37:g.88485426G>T			B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	CCDS2002.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.99|15.99	2.994583|2.994583	0.54041|0.54041	.|.	.|.	ENSG00000144115|ENSG00000144115	ENST00000449349|ENST00000377254;ENST00000544063	T|T	0.16324|0.13901	2.35|2.55	5.98|5.98	-2.62|-2.62	0.06152|0.06152	.|.	.|.	.|.	.|.	.|.	T|T	0.08313|0.08313	0.0207|0.0207	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|B	0.47106|0.23806	0.89|0.091	P|B	0.48368|0.26094	0.575|0.066	T|T	0.31280|0.31280	-0.9949|-0.9949	8|8	0.72032|0.20519	D|T	0.01|0.43	.|.	9.4524|9.4524	0.38734|0.38734	0.1889:0.3871:0.4239:0.0|0.1889:0.3871:0.4239:0.0	.|.	239|205	C9JU10|A8K0C1	.|.	V|L	239|363;205	ENSP00000407553:G239V|ENSP00000366464:V363L	ENSP00000407553:G239V|ENSP00000366464:V363L	G|V	+|+	2|1	0|0	THNSL2|THNSL2	88266541|88266541	1.000000|1.000000	0.71417|0.71417	0.737000|0.737000	0.30932|0.30932	0.920000|0.920000	0.55202|0.55202	0.874000|0.874000	0.28065|0.28065	-0.364000|-0.364000	0.08088|0.08088	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.622	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		T	88485426	G	T	88485426	2	4	111	1	0	0	0	0	0	0	0	1	15868	1248	44	4		4	THNSL2	2	88485426	Silent	SNP	G	TCGA-AK-3460-01A-02D-1361-10		88485426	154713947	8	6892											
ZEB2	9839	hgsc.bcm.edu	37	2	145155963	145155963	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr2:145155963A>C	ENST00000558170.2	-	8	3975	c.2791T>G	c.(2791-2793)Ttc>Gtc	p.F931V	ZEB2_ENST00000409487.3_Missense_Mutation_p.F931V|ZEB2_ENST00000303660.4_Missense_Mutation_p.F931V|ZEB2_ENST00000539609.3_Missense_Mutation_p.F907V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	931					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGTGGTAGGAAGCTCATCTGA	0.498																																					Melanoma(33;1235 1264 5755 16332)											0													149	143	145					2																	145155963		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2791T>G	2.37:g.145155963A>C	ENSP00000454157:p.Phe931Val		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217036	0.58560	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14640	2.5;2.49;2.49	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	L	0.56769	1.78	0.80722	D	1	P;D;D;D	0.63880	0.954;0.993;0.981;0.981	P;D;D;D	0.70227	0.672;0.968;0.954;0.954	T	0.01146	-1.1437	10	0.38643	T	0.18	-9.1512	16.2147	0.82198	1.0:0.0:0.0:0.0	.	907;796;930;931	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	V	907;931;931	ENSP00000443792:F907V;ENSP00000302501:F931V;ENSP00000386854:F931V	ENSP00000302501:F931V	F	-	1	0	ZEB2	144872433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.231000	0.72958	0.460000	0.39030	TTC		0.498	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		C	145155963	A	C	145155963	3	2	111	1	0	0	0	0	1	0	0	0	17629	72	3	5	865	5	ZEB2	2	145155963	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	56670537	145155963	98043410	9	6893											
AOX1	316	hgsc.bcm.edu	37	2	201515874	201515874	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr2:201515874A>T	ENST00000374700.2	+	26	3266	c.3025A>T	c.(3025-3027)Atg>Ttg	p.M1009L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1009					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGGACTGGCCATGGTCCCCCT	0.502																																																0													148	148	148					2																	201515874		2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3025A>T	2.37:g.201515874A>T	ENSP00000363832:p.Met1009Leu		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	8.877	0.950797	0.18431	.	.	ENSG00000138356	ENST00000374700	T	0.33438	1.41	5.65	-6.63	0.01807	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.623404	0.18202	N	0.148462	T	0.07143	0.0181	N	0.00569	-1.365	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.36625	-0.9740	10	0.36615	T	0.2	-2.1881	11.4821	0.50331	0.4036:0.0995:0.4969:0.0	.	1009	Q06278	ADO_HUMAN	L	1009	ENSP00000363832:M1009L	ENSP00000363832:M1009L	M	+	1	0	AOX1	201224119	0.143000	0.22626	0.012000	0.15200	0.334000	0.28698	0.492000	0.22435	-0.986000	0.03498	-0.912000	0.02778	ATG		0.502	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		T	201515874	A	T	201515874	3	4	111	1	0	0	0	0	1	0	0	0	729	217	8	5	3127	5	AOX1	2	201515874	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	56359911	201515874	41683499	10	6894											
FYCO1	79443	hgsc.bcm.edu	37	3	46009603	46009603	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr3:46009603T>A	ENST00000296137.2	-	8	1428	c.1223A>T	c.(1222-1224)cAa>cTa	p.Q408L	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q408L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	408					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTCTAGGGCTTGAAGCTTCTC	0.562																																																0													227	229	228					3																	46009603		2203	4300	6503	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1223A>T	3.37:g.46009603T>A	ENSP00000296137:p.Gln408Leu		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	6.201	0.405179	0.11754	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.23552	1.91;1.9	4.97	-5.84	0.02318	.	0.959049	0.08697	N	0.907110	T	0.21674	0.0522	L	0.47716	1.5	0.09310	N	1	B;B	0.18166	0.026;0.018	B;B	0.15484	0.01;0.013	T	0.19063	-1.0317	10	0.32370	T	0.25	2.2978	15.3506	0.74380	0.0:0.2814:0.0:0.7186	.	408;408	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	L	408	ENSP00000296137:Q408L;ENSP00000441178:Q408L	ENSP00000296137:Q408L	Q	-	2	0	FYCO1	45984607	0.000000	0.05858	0.000000	0.03702	0.370000	0.29829	-0.407000	0.07178	-1.183000	0.02723	-1.601000	0.00813	CAA		0.562	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		A	46009603	T	A	46009603	3	1	111	1	0	0	0	0	1	0	0	0	6127	1812	63	5	3257	5	FYCO1	3	46009603	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10		46009603	152012827	11	6895											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52621464	52621464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr3:52621464G>A	ENST00000296302.7	-	19	3029	c.3028C>T	c.(3028-3030)Cga>Tga	p.R1010*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1025*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1010*|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000410007.1_Intron|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1025*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1010*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R978*			Q86U86	PB1_HUMAN	polybromo 1	1010	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1010*(4)|p.R978*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGAAATTTTCGTGTAGCCAGG	0.398			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											71	72	71					3																	52621464		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3028C>T	3.37:g.52621464G>A	ENSP00000296302:p.Arg1010*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	39	7.356284	0.98231	.	.	ENSG00000163939	ENST00000356770;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0857	0.72151	0.0:0.0:0.668:0.332	.	.	.	.	X	978;1010;1010;1010;1025;1025;1009;968	.	ENSP00000296302:R1010X	R	-	1	2	PBRM1	52596504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.097000	0.50251	1.458000	0.47871	0.655000	0.94253	CGA		0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52621464	G	A	52621464	4	1	111	1	0	0	0	0	0	1	0	0	11493	1153	40	1	1920	1	PBRM1	3	52621464	Nonsense_Mutation	SNP	G	TCGA-AK-3460-01A-02D-1361-10	6611861	52621464	145400966	12	6896											
ROBO2	6092	hgsc.bcm.edu	37	3	77626662	77626662	+	Missense_Mutation	SNP	C	C	G	rs201453939		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr3:77626662C>G	ENST00000461745.1	+	15	3125	c.2225C>G	c.(2224-2226)tCt>tGt	p.S742C	ROBO2_ENST00000332191.8_Missense_Mutation_p.S742C|ROBO2_ENST00000487694.3_Missense_Mutation_p.S758C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	742	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCACCACAGTCTGTCACTGTA	0.423																																																0													87	89	88					3																	77626662		1899	4116	6015	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2225C>G	3.37:g.77626662C>G	ENSP00000417164:p.Ser742Cys		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	50	0.022893772893772892	4	0.008130081300813009	0	0.0	9	0.015734265734265736	37	0.048812664907651716	C	20.4	3.990730	0.74589	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57752	0.38;0.38;0.38	5.66	5.66	0.87406	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000339	T	0.29749	0.0743	L	0.58810	1.83	0.40575	D	0.981331	D;D;D	0.67145	0.984;0.996;0.984	P;P;P	0.62649	0.905;0.893;0.905	T	0.57493	-0.7802	9	0.72032	D	0.01	.	19.7501	0.96265	0.0:1.0:0.0:0.0	.	758;742;742	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	C	758;758;762;742;742;463	ENSP00000417335:S758C;ENSP00000417164:S742C;ENSP00000327536:S742C	ENSP00000327536:S742C	S	+	2	0	ROBO2	77709352	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.244000	0.72391	2.667000	0.90743	0.491000	0.48974	TCT		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		G	77626662	C	G	77626662	3	3	111	1	0	0	0	0	1	0	0	0	13520	913	32	4	2285	4	ROBO2	3	77626662	Missense_Mutation	SNP	C	TCGA-AK-3460-01A-02D-1361-10	25005198	77626662	120395768	13	6897											
FGFBP1	9982	hgsc.bcm.edu;ucsc.edu	37	4	15937909	15937909	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:15937909A>G	ENST00000382333.1	-	3	641	c.347T>C	c.(346-348)gTt>gCt	p.V116A	FGFBP1_ENST00000259988.2_Missense_Mutation_p.V116A	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	116					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						ATTCCGGGCAACTTGTTTCCA	0.443																																																0													103	100	101					4																	15937909		2203	4300	6503	SO:0001583	missense	9982			M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.347T>C	4.37:g.15937909A>G	ENSP00000371770:p.Val116Ala		A8K5J2	Missense_Mutation	SNP	ENST00000382333.1	37	CCDS3418.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809338	0.31961	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.18016	2.24;2.24	5.65	5.65	0.86999	.	0.332054	0.34386	N	0.004006	T	0.18882	0.0453	L	0.40543	1.245	0.27153	N	0.961356	B	0.23128	0.08	B	0.29077	0.098	T	0.14952	-1.0454	10	0.72032	D	0.01	-19.808	14.8498	0.70286	1.0:0.0:0.0:0.0	.	116	Q14512	FGFP1_HUMAN	A	116	ENSP00000371770:V116A;ENSP00000259988:V116A	ENSP00000259988:V116A	V	-	2	0	FGFBP1	15547007	0.995000	0.38212	0.092000	0.20876	0.006000	0.05464	5.547000	0.67249	2.165000	0.68154	0.523000	0.50628	GTT		0.443	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130		G	15937909	A	G	15937909	3	3	111	1	0	0	0	0	1	0	0	0	5862	43	2	3	361	3	FGFBP1	4	15937909	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10		15937909	175216367	14	6898											
PDGFRA	5156	hgsc.bcm.edu	37	4	55133800	55133800	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:55133800A>G	ENST00000257290.5	+	7	1344	c.1013A>G	c.(1012-1014)gAg>gGg	p.E338G	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	338	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTTGTTGTAGAGGTGCGGGCC	0.448			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	0													72	70	71					4																	55133800		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1013A>G	4.37:g.55133800A>G	ENSP00000257290:p.Glu338Gly		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	9.574	1.121743	0.20877	.	.	ENSG00000134853	ENST00000257290	T	0.68624	-0.34	5.79	4.58	0.56647	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.281890	0.18761	U	0.131900	T	0.62233	0.2411	M	0.71206	2.165	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.12837	0.008;0.002	T	0.55854	-0.8075	10	0.27785	T	0.31	.	8.0915	0.30803	0.7935:0.1369:0.0696:0.0	.	338;338	P16234-3;P16234	.;PGFRA_HUMAN	G	338	ENSP00000257290:E338G	ENSP00000257290:E338G	E	+	2	0	PDGFRA	54828557	0.876000	0.30132	0.866000	0.34008	0.498000	0.33706	3.121000	0.50438	0.990000	0.38787	0.379000	0.24179	GAG		0.448	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		G	55133800	A	G	55133800	3	3	111	1	0	0	0	0	1	0	0	0	11663	304	11	3	1035	3	PDGFRA	4	55133800	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	39195891	55133800	136020476	15	6899											
LPHN3	23284	hgsc.bcm.edu;ucsc.edu	37	4	62849248	62849248	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:62849248G>A	ENST00000514591.1	+	18	3288	c.2959G>A	c.(2959-2961)Ggc>Agc	p.G987S	LPHN3_ENST00000545650.1_Missense_Mutation_p.G987S|LPHN3_ENST00000508693.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000508946.1_Missense_Mutation_p.G987S|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000512091.2_Missense_Mutation_p.G987S|LPHN3_ENST00000506700.1_Missense_Mutation_p.G987S|LPHN3_ENST00000509896.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000507164.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000511324.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000514996.1_Missense_Mutation_p.G987S|LPHN3_ENST00000504896.1_Missense_Mutation_p.G987S|LPHN3_ENST00000514157.1_Missense_Mutation_p.G987S|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1055S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	974					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTATCTGGTCGGCTATGGGAT	0.433																																																0													210	207	208					4																	62849248		1931	4150	6081	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2959G>A	4.37:g.62849248G>A	ENSP00000422533:p.Gly987Ser		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.261822|5.261822	0.95368|0.95368	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.84516|.	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86|.	5.72|5.72	5.72|5.72	0.89469|0.89469	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84211|0.84211	0.5422|0.5422	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	D|D	0.85367|0.85367	0.1111|0.1111	10|5	0.51188|.	T|.	0.08|.	.|.	19.8917|19.8917	0.96932|0.96932	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	987;974;987|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	S|Q	987;987;1055;1055;987;987;974;987;1055;1055;1055;987;987;987;1055;1055;987|444	ENSP00000423388:G987S;ENSP00000422533:G987S;ENSP00000423787:G1055S;ENSP00000425033:G1055S;ENSP00000424120:G987S;ENSP00000439831:G987S;ENSP00000421476:G1055S;ENSP00000424030:G1055S;ENSP00000421372:G1055S;ENSP00000425201:G987S;ENSP00000423434:G987S;ENSP00000421627:G987S;ENSP00000420931:G1055S;ENSP00000425884:G1055S;ENSP00000424258:G987S|.	ENSP00000280009:G987S|.	G|R	+|+	1|2	0|0	LPHN3|LPHN3	62531843|62531843	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.966000|0.966000	0.64601|0.64601	9.869000|9.869000	0.99810|0.99810	2.705000|2.705000	0.92388|0.92388	0.591000|0.591000	0.81541|0.81541	GGC|CGG		0.433	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			A	62849248	G	A	62849248	3	1	111	1	0	0	0	0	1	0	0	0	8919	1116	39	1	3021	1	LPHN3	4	62849248	Missense_Mutation	SNP	G	TCGA-AK-3460-01A-02D-1361-10	7715448	62849248	128305028	16	6900											
ENPEP	2028	hgsc.bcm.edu;ucsc.edu	37	4	111412268	111412268	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:111412268T>G	ENST00000265162.5	+	3	1208	c.866T>G	c.(865-867)tTt>tGt	p.F289C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	289					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTGGTGTGCTTTGCTGTACAT	0.343																																																0													92	96	95					4																	111412268		2203	4300	6503	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.866T>G	4.37:g.111412268T>G	ENSP00000265162:p.Phe289Cys		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.147944	0.57151	.	.	ENSG00000138792	ENST00000265162	T	0.05855	3.38	4.82	4.82	0.62117	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.25047	-1.0143	10	0.72032	D	0.01	.	11.3666	0.49675	0.0:0.0:0.1516:0.8484	.	289	Q07075	AMPE_HUMAN	C	289	ENSP00000265162:F289C	ENSP00000265162:F289C	F	+	2	0	ENPEP	111631717	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	7.197000	0.77814	1.935000	0.56089	0.528000	0.53228	TTT		0.343	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			G	111412268	T	G	111412268	3	3	111	1	0	0	0	0	1	0	0	0	5130	1841	64	5	876	5	ENPEP	4	111412268	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10	48563020	111412268	79742008	17	6901											
STOX2	56977	hgsc.bcm.edu;ucsc.edu	37	4	184930539	184930539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:184930539C>A	ENST00000308497.4	+	3	1983	c.548C>A	c.(547-549)tCa>tAa	p.S183*	STOX2_ENST00000438269.1_Nonsense_Mutation_p.S183*	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	183					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CCCTCTGCCTCAGGCTGTGTC	0.567																																																0													94	99	97					4																	184930539		2142	4243	6385	SO:0001587	stop_gained	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.548C>A	4.37:g.184930539C>A	ENSP00000311257:p.Ser183*		A6H8U4|Q9NPS8	Nonsense_Mutation	SNP	ENST00000308497.4	37	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	49	15.807595	0.99845	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	.	.	.	5.25	5.25	0.73442	.	0.131155	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0551	19.3982	0.94617	0.0:1.0:0.0:0.0	.	.	.	.	X	183;183;121	.	ENSP00000311257:S183X	S	+	2	0	STOX2	185167533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.416000	0.80143	2.894000	0.99253	0.655000	0.94253	TCA		0.567	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		A	184930539	C	A	184930539	4	1	111	1	0	0	0	0	0	1	0	0	15325	838	29	4	558	4	STOX2	4	184930539	Nonsense_Mutation	SNP	C	TCGA-AK-3460-01A-02D-1361-10	73518271	184930539	6223737	18	6902											
CCDC111	201973	hgsc.bcm.edu;ucsc.edu	37	4	185599419	185599419	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:185599419A>G	ENST00000314970.6	+	8	1311	c.878A>G	c.(877-879)tAt>tGt	p.Y293C	PRIMPOL_ENST00000512834.1_Missense_Mutation_p.Y293C|PRIMPOL_ENST00000515774.1_Missense_Mutation_p.Y164C|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.Y293C	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	293					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										TTTCGGCTATATAAATCATCA	0.289																																																0													34	36	35					4																	185599419		2196	4288	6484	SO:0001583	missense	201973			AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"coiled-coil domain containing 111"	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.878A>G	4.37:g.185599419A>G	ENSP00000313816:p.Tyr293Cys		D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405537	0.83230	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834	T;T;T;T	0.46063	0.88;1.22;0.88;0.88	5.95	5.95	0.96441	.	0.133229	0.53938	D	0.000054	T	0.68458	0.3003	M	0.82517	2.595	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72924	-0.4144	10	0.66056	D	0.02	-20.1894	16.4237	0.83790	1.0:0.0:0.0:0.0	.	293;293	Q96LW4;D6RDM1	CC111_HUMAN;.	C	293;164;293;293	ENSP00000313816:Y293C;ENSP00000421913:Y164C;ENSP00000420860:Y293C;ENSP00000425316:Y293C	ENSP00000313816:Y293C	Y	+	2	0	CCDC111	185836413	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	8.076000	0.89503	2.279000	0.76181	0.533000	0.62120	TAT		0.289	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		G	185599419	A	G	185599419	3	3	111	1	0	0	0	0	1	0	0	0	2750	449	16	3	900	3	CCDC111	4	185599419	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	668880	185599419	5554857	19	6903											
ROPN1L	83853	hgsc.bcm.edu	37	5	10461349	10461350	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:10461349_10461350delGG	ENST00000503804.1	+	5	992_993	c.471_472delGG	c.(469-474)gagggcfs	p.G159fs	ROPN1L_ENST00000274134.4_Frame_Shift_Del_p.G159fs|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	159					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						ACGATCCGGAGGGCGGGCCCGC	0.569																																																0																																										SO:0001589	frameshift_variant	83853			AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"radial spoke head 11 homolog (Chlamydomonas)"	611756	"ropporin 1-like"			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.471_472delGG	5.37:g.10461349_10461350delGG	ENSP00000421405:p.Gly159fs		D3DTC9|Q9BZX0	Frame_Shift_Del	DEL	ENST00000503804.1	37	CCDS3879.1																																																																																				0.569	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		-	10461350	GG	-	10461349	7	5	111	1	0	1	0	1	0	0	0	0	13531	991	35	0	485	0	ROPN1L	5	10461349	Frame_Shift_Del	DEL	GG	TCGA-AK-3460-01A-02D-1361-10		10461349	170453911	20	6904											
GOLPH3	64083	hgsc.bcm.edu;ucsc.edu	37	5	32126658	32126658	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:32126658A>T	ENST00000265070.6	-	4	872	c.557T>A	c.(556-558)gTa>gAa	p.V186E	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	186					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TGTTGTCAATACACCCTTTTC	0.378																																																0													176	173	174					5																	32126658		2203	4300	6503	SO:0001583	missense	64083			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.557T>A	5.37:g.32126658A>T	ENSP00000265070:p.Val186Glu		Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758565	0.69763	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88383	0.3003	9	0.62326	D	0.03	-22.8981	16.8061	0.85666	1.0:0.0:0.0:0.0	.	186	Q9H4A6	GOLP3_HUMAN	E	186;169	.	ENSP00000265070:V186E	V	-	2	0	GOLPH3	32162415	1.000000	0.71417	0.860000	0.33809	0.793000	0.44817	8.904000	0.92590	2.367000	0.80283	0.528000	0.53228	GTA		0.378	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		T	32126658	A	T	32126658	3	4	111	1	0	0	0	0	1	0	0	0	6570	391	14	5	343	5	GOLPH3	5	32126658	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	21665309	32126658	148788602	21	6905											
SFRS12	140890	hgsc.bcm.edu;ucsc.edu	37	5	65455094	65455094	+	5'UTR	SNP	C	C	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:65455094C>T	ENST00000380918.3	+	0	655				SREK1_ENST00000334121.6_Missense_Mutation_p.P115S|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GGCTCCTGCTCCAACCATGAC	0.443																																					GBM(10;31 347 27684 38976 41583)											0													87	88	88					5																	65455094		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"RNA binding motif (RRM) containing"	17882	protein-coding gene	gene with protein product	"serine-arginine-rich splicing regulatory protein 508"	609268	"splicing factor, arginine/serine-rich 12"	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.-6C>T	5.37:g.65455094C>T			A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.856079	0.32791	.	.	ENSG00000153914	ENST00000334121;ENST00000537482	T	0.46063	0.88	5.54	5.54	0.83059	.	0.205181	0.41823	D	0.000814	T	0.25568	0.0622	N	0.14661	0.345	0.80722	D	1	P	0.37370	0.592	B	0.32289	0.143	T	0.09015	-1.0694	10	0.08837	T	0.75	.	19.479	0.95002	0.0:1.0:0.0:0.0	.	115	Q8WXA9-2	.	S	115	ENSP00000334538:P115S	ENSP00000334538:P115S	P	+	1	0	SREK1	65490850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.978000	0.40598	2.589000	0.87451	0.591000	0.81541	CCA		0.443	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		T	65455094	C	T	65455094	1	4	111	0	1	0	0	0	0	0	0	0	14173	855	30	2		2	SFRS12	5	65455094	5'UTR	SNP	C	TCGA-AK-3460-01A-02D-1361-10	33328436	65455094	115460166	22	6906											
SLC12A2	6558	hgsc.bcm.edu;ucsc.edu	37	5	127477609	127477609	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:127477609T>G	ENST00000262461.2	+	10	1898	c.1709T>G	c.(1708-1710)tTa>tGa	p.L570*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.L570*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	570					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GCCTGCAAATTAAACTTTGAT	0.388																																																0													205	186	192					5																	127477609		2203	4300	6503	SO:0001587	stop_gained	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1709T>G	5.37:g.127477609T>G	ENSP00000262461:p.Leu570*		Q8N713|Q8WWH7	Nonsense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	T	39	7.359854	0.98235	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	4.5	4.5	0.54988	.	0.320825	0.29273	N	0.012640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9923	0.64374	0.0:0.0:0.0:1.0	.	.	.	.	X	570	.	ENSP00000262461:L570X	L	+	2	0	SLC12A2	127505508	0.868000	0.29978	1.000000	0.80357	0.994000	0.84299	5.709000	0.68384	1.887000	0.54652	0.528000	0.53228	TTA		0.388	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		G	127477609	T	G	127477609	4	3	111	1	0	0	0	0	0	1	0	0	14389	1764	61	5	1747	5	SLC12A2	5	127477609	Nonsense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10	62022515	127477609	53437651	23	6907											
FLT4	2324	hgsc.bcm.edu	37	5	180048826	180048826	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:180048826T>C	ENST00000261937.6	-	13	1814	c.1736A>G	c.(1735-1737)cAa>cGa	p.Q579R	FLT4_ENST00000393347.3_Missense_Mutation_p.Q579R|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.Q579R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	579	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGTCGGCTTGGCAGCTCAG	0.622																																					Colon(97;1075 1466 27033 27547 35871)											0													80	84	83					5																	180048826		2203	4298	6501	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1736A>G	5.37:g.180048826T>C	ENSP00000261937:p.Gln579Arg		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	7.911	0.736511	0.15574	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.13196	2.61;2.61;2.61	4.64	-6.0	0.02206	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03095	0.0091	N	0.00707	-1.245	0.19300	N	0.99998	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.49103	-0.8974	9	0.13853	T	0.58	.	10.3254	0.43790	0.1094:0.1128:0.0:0.7778	.	579;389;579;579	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	R	579;579;579;389	ENSP00000261937:Q579R;ENSP00000377016:Q579R;ENSP00000426057:Q579R	ENSP00000261937:Q579R	Q	-	2	0	FLT4	179981432	0.001000	0.12720	0.064000	0.19789	0.461000	0.32589	-0.148000	0.10219	-1.331000	0.02252	-0.441000	0.05720	CAA		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			C	180048826	T	C	180048826	3	2	111	1	0	0	0	0	1	0	0	0	5946	1812	63	3	2435	3	FLT4	5	180048826	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10	52571217	180048826	866434	24	6908											
ITPR3	3710	hgsc.bcm.edu	37	6	33635706	33635706	+	Silent	SNP	C	C	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:33635706C>T	ENST00000374316.5	+	17	2911	c.1851C>T	c.(1849-1851)acC>acT	p.T617T	ITPR3_ENST00000605930.1_Silent_p.T617T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	617					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AGGTGGAGACCTTCGTCAGCC	0.632																																																0													168	130	143					6																	33635706		2203	4300	6503	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1851C>T	6.37:g.33635706C>T			Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																				0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		T	33635706	C	T	33635706	2	4	111	1	0	0	0	0	0	0	0	1	7924	668	24	2		2	ITPR3	6	33635706	Silent	SNP	C	TCGA-AK-3460-01A-02D-1361-10		33635706	137479361	25	6909											
PPARD	5467	hgsc.bcm.edu	37	6	35392338	35392338	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:35392338A>G	ENST00000311565.4	+	8	1209	c.860A>G	c.(859-861)cAc>cGc	p.H287R	PPARD_ENST00000360694.3_Missense_Mutation_p.H287R|PPARD_ENST00000418635.2_Missense_Mutation_p.H189R|PPARD_ENST00000540939.1_Missense_Mutation_p.H184R|PPARD_ENST00000444397.1_Missense_Mutation_p.H287R|PPARD_ENST00000337400.2_Missense_Mutation_p.H287R|PPARD_ENST00000448077.2_Missense_Mutation_p.H248R	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	287	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TATGGCGTGCACGAGGCCATC	0.602																																																0													95	77	83					6																	35392338		2203	4300	6503	SO:0001583	missense	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.860A>G	6.37:g.35392338A>G	ENSP00000310928:p.His287Arg		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279542	0.80692	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29	5.82	5.82	0.92795	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97939	0.9322	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.97	D	0.98552	1.0637	10	0.54805	T	0.06	.	16.1814	0.81903	1.0:0.0:0.0:0.0	.	189;248;287;287	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	R	248;287;189;287;287;287;184	ENSP00000414372:H248R;ENSP00000353916:H287R;ENSP00000413314:H189R;ENSP00000410837:H287R;ENSP00000310928:H287R;ENSP00000337063:H287R;ENSP00000443759:H184R	ENSP00000310928:H287R	H	+	2	0	PPARD	35500316	1.000000	0.71417	0.952000	0.39060	0.984000	0.73092	9.339000	0.96797	2.234000	0.73211	0.533000	0.62120	CAC		0.602	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		G	35392338	A	G	35392338	3	3	111	1	0	0	0	0	1	0	0	0	12300	159	6	3	895	3	PPARD	6	35392338	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	1756632	35392338	135722729	26	6910											
CUL9	23113	hgsc.bcm.edu	37	6	43174215	43174215	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:43174215G>A	ENST00000252050.4	+	26	5263	c.5179G>A	c.(5179-5181)Gcc>Acc	p.A1727T	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Missense_Mutation_p.A1617T|CUL9_ENST00000372647.2_Missense_Mutation_p.A1727T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1727					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.A1727S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATTCTGTGATGCCCTTGACCG	0.542																																																1	Substitution - Missense(1)	ovary(1)											107	104	105					6																	43174215		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5179G>A	6.37:g.43174215G>A	ENSP00000252050:p.Ala1727Thr		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	6.291	0.421735	0.11928	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74315	-0.83;-0.83;-0.83	5.36	3.3	0.37823	Cullin, N-terminal (1);Cullin homology (2);	0.605711	0.18317	N	0.144916	T	0.21387	0.0515	N	0.04090	-0.28	0.30142	N	0.803806	B;P;P	0.34864	0.063;0.473;0.473	B;B;B	0.34931	0.037;0.192;0.192	T	0.40040	-0.9584	10	0.02654	T	1	-21.2764	3.416	0.07376	0.0999:0.3278:0.4338:0.1384	.	1617;1727;1727	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	T	1727;1617;1727	ENSP00000252050:A1727T;ENSP00000346490:A1617T;ENSP00000361730:A1727T	ENSP00000252050:A1727T	A	+	1	0	CUL9	43282193	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	1.487000	0.35540	2.507000	0.84556	0.591000	0.81541	GCC		0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		A	43174215	G	A	43174215	3	1	111	1	0	0	0	0	1	0	0	0	4063	1319	46	2	5277	2	CUL9	6	43174215	Missense_Mutation	SNP	G	TCGA-AK-3460-01A-02D-1361-10	7781877	43174215	127940852	27	6911											
GPR116	221395	hgsc.bcm.edu;ucsc.edu	37	6	46856140	46856140	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:46856140A>C	ENST00000283296.7	-	4	548	c.260T>G	c.(259-261)cTc>cGc	p.L87R	GPR116_ENST00000362015.4_Missense_Mutation_p.L87R|GPR116_ENST00000456426.2_Missense_Mutation_p.L87R|GPR116_ENST00000478711.1_5'UTR|GPR116_ENST00000265417.7_Missense_Mutation_p.L87R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	87					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGGAAAACTGAGGCTGTTCAA	0.388																																					NSCLC(59;410 1274 8751 36715 50546)											0													148	141	143					6																	46856140		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.260T>G	6.37:g.46856140A>C	ENSP00000283296:p.Leu87Arg		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761329	0.69763	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.50277	0.85;1.23;0.75;0.85	5.66	4.51	0.55191	.	0.236987	0.29900	N	0.010919	T	0.54095	0.1837	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.988;0.956;0.988	T	0.60811	-0.7189	10	0.87932	D	0	-17.9979	8.4369	0.32793	0.9121:0.0:0.0879:0.0	.	87;87;87	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	R	87	ENSP00000283296:L87R;ENSP00000354563:L87R;ENSP00000412866:L87R;ENSP00000265417:L87R	ENSP00000265417:L87R	L	-	2	0	GPR116	46964099	1.000000	0.71417	0.913000	0.36048	0.984000	0.73092	4.386000	0.59620	1.094000	0.41399	0.533000	0.62120	CTC		0.388	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		C	46856140	A	C	46856140	3	2	111	1	0	0	0	0	1	0	0	0	6635	304	11	5	3852	5	GPR116	6	46856140	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	3681925	46856140	124258927	28	6912											
KATNA1	11104	hgsc.bcm.edu	37	6	149918641	149918641	+	Splice_Site	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:149918641A>C	ENST00000335647.5	-	8	1195		c.e8+1		KATNA1_ENST00000335643.8_Splice_Site|KATNA1_ENST00000367411.2_Splice_Site|KATNA1_ENST00000494504.1_Splice_Site|SNORA2_ENST00000365473.1_RNA					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AAAGGAAGATACCTGACGGCA	0.353																																																0													89	89	89					6																	149918641		2203	4300	6503	SO:0001630	splice_region_variant	11104			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"ATPases / AAA-type"	6216	protein-coding gene	gene with protein product		606696	"katanin p60 (ATPase-containing) subunit A 1"			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.1150+1T>G	6.37:g.149918641A>C				Splice_Site	SNP	ENST00000335647.5	37	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.412167	0.83340	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8671	0.79074	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KATNA1	149960334	1.000000	0.71417	0.995000	0.50966	0.898000	0.52572	9.339000	0.96797	2.151000	0.67156	0.460000	0.39030	.		0.353	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044	Intron	C	149918641	A	C	149918641	5	2	111	1	0	0	0	0	0	0	1	0	7986	405	14	5	335	5	KATNA1	6	149918641	Splice_Site	SNP	A	TCGA-AK-3460-01A-02D-1361-10	103062501	149918641	21196426	29	6913											
RGS17	26575	hgsc.bcm.edu;ucsc.edu	37	6	153332893	153332894	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:153332893_153332894insT	ENST00000367225.2	-	4	472_473	c.448_449insA	c.(448-450)agtfs	p.S150fs	RGS17_ENST00000206262.1_Frame_Shift_Ins_p.S150fs			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	150	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AGAATCAAGACTGACCTAAAAA	0.317																																					Esophageal Squamous(78;500 1236 6775 24364 49058)											0																																										SO:0001589	frameshift_variant	26575			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"Regulators of G-protein signaling"	14088	protein-coding gene	gene with protein product		607191	"regulator of G-protein signalling 17"			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.449dupA	6.37:g.153332894_153332894dupT	ENSP00000356194:p.Ser150fs		Q5TF49|Q8TD61|Q9UJS8	Frame_Shift_Ins	INS	ENST00000367225.2	37	CCDS5244.1																																																																																				0.317	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			T	153332894	-	T	153332893	7	5	111	1	0	1	1	0	0	0	0	0	13305	565	20	0	187	0	RGS17	6	153332893	Frame_Shift_Ins	INS	-	TCGA-AK-3460-01A-02D-1361-10	3414252	153332893	17782174	30	6914											
BRP44L	51660	hgsc.bcm.edu	37	6	166780320	166780320	+	Silent	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:166780320T>C	ENST00000360961.6	-	3	256	c.135A>G	c.(133-135)aaA>aaG	p.K45K	MPC1_ENST00000341756.6_Silent_p.K45K|MPC1_ENST00000487218.1_5'UTR	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1	45					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)										CTGGAGACTTTTTCATATCAT	0.428																																																0													127	135	133					6																	166780320		2203	4300	6503	SO:0001819	synonymous_variant	0			AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"brain protein 44-like"	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.135A>G	6.37:g.166780320T>C			B2R5I7|Q5TI66|Q9HB67|Q9UQN4	Silent	SNP	ENST00000360961.6	37	CCDS5293.1																																																																																				0.428	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043052.1	NM_016098		C	166780320	T	C	166780320	2	2	111	1	0	0	0	0	0	0	0	1	1521	1841	64	3		3	BRP44L	6	166780320	Silent	SNP	T	TCGA-AK-3460-01A-02D-1361-10	13447427	166780320	4334747	31	6915											
IQCE	23288	hgsc.bcm.edu	37	7	2632756	2632756	+	Silent	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr7:2632756T>C	ENST00000402050.2	+	15	1529	c.1345T>C	c.(1345-1347)Ttg>Ctg	p.L449L	IQCE_ENST00000404984.1_Silent_p.L398L|IQCE_ENST00000438376.2_Silent_p.L433L|IQCE_ENST00000325979.7_Silent_p.L384L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	449						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		agaggAGGTTTTGAGGTATGT	0.662																																																0													130	169	156					7																	2632756		2124	4222	6346	SO:0001819	synonymous_variant	23288			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1345T>C	7.37:g.2632756T>C			Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	CCDS43542.1																																																																																				0.662	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		C	2632756	T	C	2632756	2	2	111	1	0	0	0	0	0	0	0	1	7808	1838	64	3		3	IQCE	7	2632756	Silent	SNP	T	TCGA-AK-3460-01A-02D-1361-10		2632756	156505907	32	6916											
TMEM196	256130	hgsc.bcm.edu;ucsc.edu	37	7	19765340	19765340	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr7:19765340T>A	ENST00000405764.3	-	3	952	c.256A>T	c.(256-258)Aat>Tat	p.N86Y	TMEM196_ENST00000433641.1_Missense_Mutation_p.N18Y|TMEM196_ENST00000405844.1_Missense_Mutation_p.N86Y|TMEM196_ENST00000493519.1_Missense_Mutation_p.N18Y|TMEM196_ENST00000422233.1_Missense_Mutation_p.N18Y	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	92						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						AACTGAAAATTCAGGATGCCC	0.493																																																0													91	93	92					7																	19765340		2203	4300	6503	SO:0001583	missense	256130				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.256A>T	7.37:g.19765340T>A	ENSP00000384234:p.Asn86Tyr		Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	37	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024190	0.75390	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.70554	-0.4840	9	0.87932	D	0	3.0915	16.0518	0.80769	0.0:0.0:0.0:1.0	.	86	Q5HYL7-4	.	Y	86;86;18;18;18	.	ENSP00000384234:N86Y	N	-	1	0	TMEM196	19731865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.491000	0.81471	2.191000	0.70037	0.533000	0.62120	AAT		0.493	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		A	19765340	T	A	19765340	3	1	111	1	0	0	0	0	1	0	0	0	16123	1783	62	5	270	5	TMEM196	7	19765340	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10	17132584	19765340	139373323	33	6917											
ZNF273	10793	hgsc.bcm.edu	37	7	64388663	64388663	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr7:64388663T>A	ENST00000476120.1	+	4	1028	c.957T>A	c.(955-957)aaT>aaA	p.N319K	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.N254K	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AACCCTACAATTGTGAAGAAT	0.333																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)											0													35	40	38					7																	64388663		2203	4299	6502	SO:0001583	missense	10793			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.957T>A	7.37:g.64388663T>A	ENSP00000418719:p.Asn319Lys		B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.224468	0.00283	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.15372	2.43;2.43	1.16	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	N	0.00098	-2.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	9	0.02654	T	1	.	2.4206	0.04447	0.5197:0.2325:0.0:0.2478	.	319	Q14593	ZN273_HUMAN	K	319;254	ENSP00000418719:N319K;ENSP00000324518:N254K	ENSP00000324518:N254K	N	+	3	2	ZNF273	64026098	0.000000	0.05858	0.283000	0.24790	0.282000	0.26991	-2.644000	0.00862	-1.140000	0.02877	-1.166000	0.01754	AAT		0.333	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			A	64388663	T	A	64388663	3	1	111	1	0	0	0	0	1	0	0	0	17813	1490	52	5	971	5	ZNF273	7	64388663	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10	44623323	64388663	94750000	34	6918											
SLC7A2	6542	hgsc.bcm.edu;ucsc.edu	37	8	17401011	17401011	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr8:17401011C>A	ENST00000494857.1	+	3	381	c.163C>A	c.(163-165)Ctc>Atc	p.L55I	SLC7A2_ENST00000522656.1_Missense_Mutation_p.L55I|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L95I|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L95I|SLC7A2_ENST00000470360.1_Missense_Mutation_p.L95I	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	55					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTTTATGTCCTCGCTGGGGA	0.602																																																0													68	57	61					8																	17401011		2203	4300	6503	SO:0001583	missense	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.163C>A	8.37:g.17401011C>A	ENSP00000419140:p.Leu55Ile		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807849	0.50421	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.64	5.64	0.86602	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95884	0.8660	M	0.83223	2.63	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.945;0.945;0.998	D	0.95621	0.8681	10	0.66056	D	0.02	.	20.0897	0.97814	0.0:1.0:0.0:0.0	.	95;95;55	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	I	55;55;95;95;95	ENSP00000419140:L55I;ENSP00000430464:L55I;ENSP00000419873:L95I;ENSP00000004531:L95I;ENSP00000381164:L95I	ENSP00000004531:L95I	L	+	1	0	SLC7A2	17445390	0.998000	0.40836	0.297000	0.24988	0.038000	0.13279	3.787000	0.55439	2.832000	0.97577	0.655000	0.94253	CTC		0.602	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		A	17401011	C	A	17401011	3	1	111	1	0	0	0	0	1	0	0	0	14703	681	24	4	289	4	SLC7A2	8	17401011	Missense_Mutation	SNP	C	TCGA-AK-3460-01A-02D-1361-10		17401011	128963011	35	6919											
CSGALNACT1	55790	hgsc.bcm.edu	37	8	19263531	19263531	+	Silent	SNP	A	A	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr8:19263531A>T	ENST00000454498.2	-	10	2372	c.1359T>A	c.(1357-1359)ctT>ctA	p.L453L	CSGALNACT1_ENST00000311540.4_Silent_p.L453L|CSGALNACT1_ENST00000544602.1_Silent_p.L453L|CSGALNACT1_ENST00000332246.6_Silent_p.L453L|CSGALNACT1_ENST00000522854.1_Silent_p.L453L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	453					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		ACTTGCGATAAAGGTGCACAT	0.542																																																0													144	129	134					8																	19263531		2203	4300	6503	SO:0001819	synonymous_variant	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1359T>A	8.37:g.19263531A>T			B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	CCDS6010.1																																																																																				0.542	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		T	19263531	A	T	19263531	2	4	111	1	0	0	0	0	0	0	0	1	3940	1	1	5		5	CSGALNACT1	8	19263531	Silent	SNP	A	TCGA-AK-3460-01A-02D-1361-10	1862520	19263531	127100491	36	6920											
CDCA2	157313	hgsc.bcm.edu;ucsc.edu	37	8	25341648	25341648	+	Silent	SNP	C	C	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr8:25341648C>T	ENST00000330560.3	+	10	1764	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.L414L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	429					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCAGTGGTCTCAGTTCCCTGC	0.453																																																0													119	115	117					8																	25341648		2203	4300	6503	SO:0001819	synonymous_variant	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1287C>T	8.37:g.25341648C>T			Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	CCDS6049.1																																																																																				0.453	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		T	25341648	C	T	25341648	2	4	111	1	0	0	0	0	0	0	0	1	3088	813	29	2		2	CDCA2	8	25341648	Silent	SNP	C	TCGA-AK-3460-01A-02D-1361-10	6078117	25341648	121022374	37	6921											
ZNF462	58499	hgsc.bcm.edu	37	9	109688141	109688141	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr9:109688141T>A	ENST00000277225.5	+	3	2237	c.1948T>A	c.(1948-1950)Tct>Act	p.S650T	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.S650T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	650					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGCCACCCCTCTTCCAGCAA	0.463																																																0													215	224	221					9																	109688141		2203	4300	6503	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1948T>A	9.37:g.109688141T>A	ENSP00000277225:p.Ser650Thr		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974060	0.53720	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05580	3.42;3.86	5.48	5.48	0.80851	.	0.106801	0.64402	D	0.000003	T	0.13286	0.0322	N	0.22421	0.69	0.80722	D	1	D;P	0.61697	0.99;0.948	D;B	0.72982	0.979;0.404	T	0.21793	-1.0235	9	.	.	.	.	14.431	0.67251	0.0:0.0:0.0:1.0	.	650;650	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	T	650	ENSP00000277225:S650T;ENSP00000414570:S650T	.	S	+	1	0	ZNF462	108727962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.853000	0.39358	2.205000	0.71048	0.528000	0.53228	TCT		0.463	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		A	109688141	T	A	109688141	3	1	111	1	0	0	0	0	1	0	0	0	17931	1551	54	5	1954	5	ZNF462	9	109688141	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10		109688141	31525290	38	6922											
C5	727	hgsc.bcm.edu	37	9	123742419	123742419	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr9:123742419T>G	ENST00000223642.1	-	28	3629	c.3600A>C	c.(3598-3600)aaA>aaC	p.K1200N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1200					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GTGGGTGAGTTTTATCTCCCA	0.403																																																0													132	126	128					9																	123742419		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3600A>C	9.37:g.123742419T>G	ENSP00000223642:p.Lys1200Asn		Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	T	9.572	1.121304	0.20877	.	.	ENSG00000106804	ENST00000223642	T	0.38077	1.16	5.13	3.98	0.46160	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	2.464690	0.01792	N	0.032343	T	0.32852	0.0843	L	0.43152	1.355	0.09310	N	1	B	0.21821	0.061	B	0.25614	0.062	T	0.21211	-1.0252	10	0.20046	T	0.44	.	4.5431	0.12067	0.0:0.1727:0.1664:0.6609	.	1200	P01031	CO5_HUMAN	N	1200	ENSP00000223642:K1200N	ENSP00000223642:K1200N	K	-	3	2	C5	122782240	0.002000	0.14202	0.163000	0.22734	0.990000	0.78478	1.273000	0.33121	0.792000	0.33850	0.533000	0.62120	AAA		0.403	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		G	123742419	T	G	123742419	3	3	111	1	0	0	0	0	1	0	0	0	2282	1838	64	5	1486	5	C5	9	123742419	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10	14054278	123742419	17471012	39	6923											
FPGS	2356	hgsc.bcm.edu	37	9	130566577	130566577	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr9:130566577T>C	ENST00000373247.2	+	2	202	c.152T>C	c.(151-153)aTg>aCg	p.M51T	FPGS_ENST00000373245.1_Missense_Mutation_p.M51T|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_Start_Codon_SNP_p.M1T|FPGS_ENST00000393706.2_Missense_Mutation_p.M51T	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	51					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GCCGTGCGCATGCTCAATACC	0.597																																																0													67	61	63					9																	130566577		2203	4300	6503	SO:0001583	missense	2356				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.152T>C	9.37:g.130566577T>C	ENSP00000362344:p.Met51Thr		B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673639	0.47781	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	T;T;T;T;T	0.27890	3.09;1.64;3.08;1.64;2.58	5.27	0.87	0.19102	Mur ligase, central (2);	0.212733	0.48286	N	0.000191	T	0.08492	0.0211	N	0.00760	-1.21	0.25277	N	0.98946	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25257	-1.0137	10	0.66056	D	0.02	-17.789	4.9528	0.14023	0.168:0.5861:0.0:0.2459	.	51;51	Q05932-4;Q05932	.;FOLC_HUMAN	T	51;51;51;51;1;1;1	ENSP00000362344:M51T;ENSP00000362342:M51T;ENSP00000377309:M51T;ENSP00000362325:M51T;ENSP00000362322:M1T	ENSP00000362322:M1T	M	+	2	0	FPGS	129606398	0.774000	0.28592	0.985000	0.45067	0.933000	0.57130	1.269000	0.33074	-0.130000	0.11599	0.460000	0.39030	ATG		0.597	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			C	130566577	T	C	130566577	3	2	111	1	0	0	0	0	1	0	0	0	6038	1464	51	3	158	3	FPGS	9	130566577	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10	6824158	130566577	10646854	40	6924											
TUBAL3	79861	hgsc.bcm.edu;ucsc.edu	37	10	5442885	5442885	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr10:5442885C>T	ENST00000380419.3	-	2	206	c.169G>A	c.(169-171)Gat>Aat	p.D57N	TUBAL3_ENST00000479328.1_Missense_Mutation_p.D17N	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	57					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AAGAAGGTATCGAAAGATGCA	0.443																																																0													218	190	199					10																	5442885		2203	4300	6503	SO:0001583	missense	79861			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.169G>A	10.37:g.5442885C>T	ENSP00000369784:p.Asp57Asn		B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	C	3.059	-0.193721	0.06259	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.70164	-0.46;-0.46	3.93	-0.397	0.12423	Tubulin/FtsZ, GTPase domain (4);	1.656400	0.03630	N	0.237847	T	0.36138	0.0956	N	0.01817	-0.705	0.25963	N	0.9826	B;B	0.11235	0.001;0.004	B;B	0.10450	0.001;0.005	T	0.42413	-0.9453	10	0.02654	T	1	.	8.512	0.33224	0.0:0.6364:0.0:0.3636	.	17;57	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	N	57;17	ENSP00000369784:D57N;ENSP00000418799:D17N	ENSP00000369784:D57N	D	-	1	0	TUBAL3	5432885	0.000000	0.05858	0.009000	0.14445	0.174000	0.22865	-0.083000	0.11286	-0.200000	0.10300	0.563000	0.77884	GAT		0.443	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		T	5442885	C	T	5442885	3	4	111	1	0	0	0	0	1	0	0	0	16756	884	31	1	1183	1	TUBAL3	10	5442885	Missense_Mutation	SNP	C	TCGA-AK-3460-01A-02D-1361-10		5442885	130091862	41	6925											
SVIL	6840	hgsc.bcm.edu	37	10	29840075	29840075	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr10:29840075A>G	ENST00000355867.4	-	6	1030	c.278T>C	c.(277-279)aTg>aCg	p.M93T	SVIL_ENST00000375400.3_Missense_Mutation_p.M93T|SVIL_ENST00000375398.2_Missense_Mutation_p.M93T	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	93	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTGGGTGTCCATGGTACCCGA	0.502																																																0													152	129	137					10																	29840075		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.278T>C	10.37:g.29840075A>G	ENSP00000348128:p.Met93Thr		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.514222	0.00975	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.39592	1.07;1.07;1.07	5.27	1.54	0.23209	.	0.502533	0.23674	N	0.045684	T	0.33933	0.0880	M	0.66939	2.045	0.80722	D	1	B;P	0.37914	0.002;0.611	B;B	0.33750	0.002;0.169	T	0.04811	-1.0925	9	.	.	.	-14.1323	6.4929	0.22125	0.7281:0.1317:0.1403:0.0	.	93;93	O95425-2;O95425	.;SVIL_HUMAN	T	93	ENSP00000364549:M93T;ENSP00000364547:M93T;ENSP00000348128:M93T	.	M	-	2	0	SVIL	29880081	1.000000	0.71417	0.637000	0.29366	0.296000	0.27459	3.850000	0.55918	0.009000	0.14813	0.482000	0.46254	ATG		0.502	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			G	29840075	A	G	29840075	3	3	111	1	0	0	0	0	1	0	0	0	15426	217	8	3	6498	3	SVIL	10	29840075	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	24397190	29840075	105694672	42	6926											
LIPN	643418	hgsc.bcm.edu	37	10	90521220	90521220	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr10:90521220G>A	ENST00000404459.1	+	1	58	c.58G>A	c.(58-60)Gga>Aga	p.G20R		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	20					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		AAATGCTGGTGGATTCCTTGA	0.348																																																0													145	140	142					10																	90521220		1841	4087	5928	SO:0001583	missense	643418				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"lipase-like, ab-hydrolase domain containing 4"	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.58G>A	10.37:g.90521220G>A	ENSP00000383923:p.Gly20Arg		A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	G	2.835	-0.241711	0.05906	.	.	ENSG00000204020	ENST00000404459	T	0.69175	-0.38	5.4	3.44	0.39384	.	0.658962	0.14820	N	0.296516	T	0.47893	0.1470	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.29305	-1.0016	10	0.23891	T	0.37	-5.3782	8.4457	0.32841	0.195:0.0:0.805:0.0	.	20	Q5VXI9	LIPN_HUMAN	R	20	ENSP00000383923:G20R	ENSP00000383923:G20R	G	+	1	0	LIPN	90511200	0.002000	0.14202	0.008000	0.14137	0.059000	0.15707	1.093000	0.30939	0.745000	0.32763	0.655000	0.94253	GGA		0.348	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751		A	90521220	G	A	90521220	3	1	111	1	0	0	0	0	1	0	0	0	8830	1349	47	2	60	2	LIPN	10	90521220	Missense_Mutation	SNP	G	TCGA-AK-3460-01A-02D-1361-10	60681145	90521220	45013527	43	6927											
LGI1	9211	hgsc.bcm.edu;ucsc.edu	37	10	95557392	95557392	+	Silent	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr10:95557392T>C	ENST00000371418.4	+	8	1766	c.1506T>C	c.(1504-1506)taT>taC	p.Y502Y	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Silent_p.Y454Y	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	502					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CTCAAGTGTATAACTGGGATG	0.378																																																0													71	73	72					10																	95557392		2203	4300	6503	SO:0001819	synonymous_variant	9211			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1506T>C	10.37:g.95557392T>C			A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	CCDS7431.1																																																																																				0.378	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		C	95557392	T	C	95557392	2	2	111	1	0	0	0	0	0	0	0	1	8753	1413	49	3		3	LGI1	10	95557392	Silent	SNP	T	TCGA-AK-3460-01A-02D-1361-10	5036172	95557392	39977355	44	6928											
MTG1	92170	hgsc.bcm.edu;ucsc.edu	37	10	135209280	135209280	+	Splice_Site	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr10:135209280G>A	ENST00000317502.6	+	2	226	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	RP11-108K14.8_ENST00000468317.2_Splice_Site_p.R64Q|MTG1_ENST00000477902.2_Splice_Site_p.R18Q	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	59	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CACGATGCCCGGATATCCTTT	0.527																																																0													68	63	64					10																	135209280		2203	4300	6503	SO:0001630	splice_region_variant	92170				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"GTP-binding protein 7", "GTP-binding protein 7 (putative)", "mitochondrial GTPase 1 homolog (S. cerevisiae)"	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.177+1G>A	10.37:g.135209280G>A			Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.494907	0.85069	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.17854	2.25;2.25;2.25	4.27	4.27	0.50696	.	1.329130	0.05021	N	0.472734	T	0.49525	0.1562	H	0.97365	3.99	0.49915	D	0.999836	D	0.53619	0.961	P	0.47744	0.556	T	0.62742	-0.6790	10	0.66056	D	0.02	-2.2405	14.2461	0.65990	0.0:0.0:1.0:0.0	.	59	Q9BT17	MTG1_HUMAN	Q	64;59;59;18	ENSP00000436767:R64Q;ENSP00000323047:R59Q;ENSP00000393480:R59Q	ENSP00000323047:R59Q	R	+	2	0	AL360181.1;MTG1	135059270	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.185000	0.77714	2.208000	0.71279	0.650000	0.86243	CGG		0.527	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384	Missense_Mutation	A	135209280	G	A	135209280	5	1	111	1	0	0	0	0	0	0	1	0	9928	1130	39	1	182	1	MTG1	10	135209280	Splice_Site	SNP	G	TCGA-AK-3460-01A-02D-1361-10	39651888	135209280	325467	45	6929											
OR5F1	338674	hgsc.bcm.edu	37	11	55761256	55761256	+	Silent	SNP	A	A	G	rs77110658	byFrequency	TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr11:55761256A>G	ENST00000278409.1	-	1	845	c.846T>C	c.(844-846)atT>atC	p.I282I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	282					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)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCAACATGGGAATCACCACTG	0.443													G|||	191	0.038139	0.0129	0.0389	5008	,	,		17735	0.001		0.0934	False		,,,				2504	0.0532															0								G		103,4299	814.0+/-416.2	3,97,2101	78	78	78		846	-0.4	0.8	11	dbSNP_131	78	669,7923	785.0+/-407.6	34,601,3661	no	coding-synonymous	OR5F1	NM_003697.1		37,698,5762	GG,GA,AA		7.7863,2.3398,5.9412		282/315	55761256	772,12222	2201	4296	6497	SO:0001819	synonymous_variant	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.846T>C	11.37:g.55761256A>G			Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	CCDS31515.1																																																																																				0.443	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		G	55761256	A	G	55761256	2	3	111	1	0	0	0	0	0	0	0	1	11160	242	9	3		3	OR5F1	11	55761256	Silent	SNP	A	TCGA-AK-3460-01A-02D-1361-10		55761256	79245260	46	6930											
MED17	9440	hgsc.bcm.edu;ucsc.edu	37	11	93521254	93521254	+	Missense_Mutation	SNP	A	A	G	rs540904807		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr11:93521254A>G	ENST00000251871.3	+	2	625	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	MED17_ENST00000530819.1_Missense_Mutation_p.Y113C	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	113					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTGTTCTCTATGATGTTCTC	0.403													A|||	1	0.000199681	0.0	0.0	5008	,	,		14636	0.0		0.0	False		,,,				2504	0.001															0													132	128	129					11																	93521254		2201	4298	6499	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.338A>G	11.37:g.93521254A>G	ENSP00000251871:p.Tyr113Cys		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212733	0.58452	.	.	ENSG00000042429	ENST00000251871;ENST00000530819;ENST00000427225;ENST00000533359;ENST00000528786	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.44	5.44	0.79542	.	0.111999	0.64402	D	0.000008	T	0.57169	0.2035	L	0.44542	1.39	0.58432	D	0.999995	B;D	0.63046	0.427;0.992	B;P	0.53146	0.333;0.719	T	0.56195	-0.8019	10	0.38643	T	0.18	-18.8692	15.5103	0.75776	1.0:0.0:0.0:0.0	.	113;113	Q9NVC6;Q9NVC6-2	MED17_HUMAN;.	C	113;113;83;113;5	ENSP00000251871:Y113C;ENSP00000434459:Y113C;ENSP00000431524:Y113C;ENSP00000433626:Y5C	ENSP00000251871:Y113C	Y	+	2	0	MED17	93160902	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.144000	0.94629	2.076000	0.62316	0.528000	0.53228	TAT		0.403	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		G	93521254	A	G	93521254	3	3	111	1	0	0	0	0	1	0	0	0	9437	449	16	3	344	3	MED17	11	93521254	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	37759998	93521254	41485262	47	6931											
CACNA1C	775	hgsc.bcm.edu	37	12	2719719	2719719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:2719719G>T	ENST00000347598.4	+	29	3631	c.3631G>T	c.(3631-3633)Gaa>Taa	p.E1211*	CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.E1211*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.E1216*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.E1191*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1211					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACAGTGCGTGGAATACGCCCT	0.592																																																0													84	91	88					12																	2719719		2105	4239	6344	SO:0001587	stop_gained	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3631G>T	12.37:g.2719719G>T	ENSP00000266376:p.Glu1211*		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Nonsense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	42	9.348866	0.99145	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	5.24	4.29	0.51040	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5999	0.76616	0.0:0.1378:0.8622:0.0	.	.	.	.	X	1216;1191;1191;1191;1191;1191;1191;1191;1191;1191;1211;1211;1191;1191;1191;1191;1191;1191;1191;1191;1191;1191;1191;1032	.	ENSP00000323129:E1032X	E	+	1	0	CACNA1C	2589980	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	5.544000	0.67231	2.610000	0.88304	0.655000	0.94253	GAA		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2719719	G	T	2719719	4	4	111	1	0	0	0	0	0	1	0	0	2542	1175	41	4	3853	4	CACNA1C	12	2719719	Nonsense_Mutation	SNP	G	TCGA-AK-3460-01A-02D-1361-10		2719719	131132176	48	6932											
DIP2B	57609	hgsc.bcm.edu;ucsc.edu	37	12	51138438	51138438	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:51138438T>C	ENST00000301180.5	+	38	4581	c.4547T>C	c.(4546-4548)cTa>cCa	p.L1516P	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1516						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAGGAAGCCCTAGATCTGGTC	0.507																																																0													186	145	159					12																	51138438		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4547T>C	12.37:g.51138438T>C	ENSP00000301180:p.Leu1516Pro		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919450	0.73098	.	.	ENSG00000066084	ENST00000301180	T	0.10763	2.84	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00860	-1.1537	10	0.54805	T	0.06	-10.2576	16.0399	0.80667	0.0:0.0:0.0:1.0	.	1516	Q9P265	DIP2B_HUMAN	P	1516	ENSP00000301180:L1516P	ENSP00000301180:L1516P	L	+	2	0	DIP2B	49424705	1.000000	0.71417	0.925000	0.36789	0.974000	0.67602	7.825000	0.86693	2.371000	0.80710	0.533000	0.62120	CTA		0.507	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		C	51138438	T	C	51138438	3	2	111	1	0	0	0	0	1	0	0	0	4530	1522	53	3	4697	3	DIP2B	12	51138438	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10	48418719	51138438	82713457	49	6933											
KRT2	3849	hgsc.bcm.edu	37	12	53042852	53042852	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:53042852A>C	ENST00000309680.3	-	4	917	c.896T>G	c.(895-897)tTg>tGg	p.L299W		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	299	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTTGGACTGCAACTCCACCTT	0.522																																																0													154	122	133					12																	53042852		2203	4300	6503	SO:0001583	missense	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.896T>G	12.37:g.53042852A>C	ENSP00000310861:p.Leu299Trp		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574847	0.45902	.	.	ENSG00000172867	ENST00000309680	D	0.94184	-3.37	4.65	3.49	0.39957	Filament (1);	.	.	.	.	D	0.97882	0.9304	H	0.98833	4.345	0.35292	D	0.782276	D	0.89917	1.0	D	0.97110	1.0	D	0.99882	1.1115	9	0.87932	D	0	.	10.5183	0.44903	0.9229:0.0:0.0771:0.0	.	299	P35908	K22E_HUMAN	W	299	ENSP00000310861:L299W	ENSP00000310861:L299W	L	-	2	0	KRT2	51329119	0.996000	0.38824	0.912000	0.35992	0.053000	0.15095	9.040000	0.93783	0.927000	0.37143	-0.290000	0.09829	TTG		0.522	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		C	53042852	A	C	53042852	3	2	111	1	0	0	0	0	1	0	0	0	8459	131	5	5	1047	5	KRT2	12	53042852	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	1904414	53042852	80809043	50	6934											
ACACB	32	hgsc.bcm.edu	37	12	109661640	109661640	+	Silent	SNP	A	A	G	rs376018180		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:109661640A>G	ENST00000338432.7	+	27	3932	c.3813A>G	c.(3811-3813)acA>acG	p.T1271T	ACACB_ENST00000377854.5_Silent_p.T1201T|ACACB_ENST00000377848.3_Silent_p.T1271T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1271					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TTTCGGAAACAACCATCTTCG	0.408																																																0								A		1,4405	2.1+/-5.4	0,1,2202	265	279	275		3813	-4.9	0.9	12		275	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACACB	NM_001093.3		0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154		1271/2459	109661640	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3813A>G	12.37:g.109661640A>G			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																				0.408	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		G	109661640	A	G	109661640	2	3	111	1	0	0	0	0	0	0	0	1	107	117	5	3		3	ACACB	12	109661640	Silent	SNP	A	TCGA-AK-3460-01A-02D-1361-10	56618788	109661640	24190255	51	6935											
PTPN11	5781	hgsc.bcm.edu	37	12	112893798	112893798	+	Silent	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:112893798A>G	ENST00000351677.2	+	6	885	c.687A>G	c.(685-687)agA>agG	p.R229R	PTPN11_ENST00000392597.1_Silent_p.R229R	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	229					abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TAGAAAGCAGAGTTCGAGAAC	0.358			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																														Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	0													58	56	57					12																	112893798		2203	4300	6503	SO:0001819	synonymous_variant	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.687A>G	12.37:g.112893798A>G			A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.404884	0.25378	.	.	ENSG00000179295	ENST00000530818	.	.	.	5.03	-6.37	0.01963	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44390	-0.9331	4	.	.	.	.	1.0352	0.01547	0.3229:0.0913:0.2342:0.3515	.	.	.	.	G	74	.	.	E	+	2	0	PTPN11	111378181	0.052000	0.20516	0.987000	0.45799	0.996000	0.88848	-0.782000	0.04643	-0.600000	0.05790	0.374000	0.22700	GAG		0.358	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			G	112893798	A	G	112893798	2	3	111	1	0	0	0	0	0	0	0	1	12786	301	11	3		3	PTPN11	12	112893798	Silent	SNP	A	TCGA-AK-3460-01A-02D-1361-10	3232158	112893798	20958097	52	6936											
PXN	5829	hgsc.bcm.edu	37	12	120650285	120650285	+	Silent	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:120650285A>G	ENST00000228307.7	-	12	1749	c.1608T>C	c.(1606-1608)tcT>tcC	p.S536S	PXN_ENST00000267257.7_Silent_p.S550S|PXN_ENST00000458477.2_Silent_p.S369S|PXN_ENST00000536957.1_Silent_p.S534S|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000539446.1_RNA|PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000424649.2_Silent_p.S502S|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000397506.3_Silent_p.S348S|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000535200.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	536	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGGCAGCCAGAACACAGCG	0.617																																																0													45	56	52					12																	120650285		2079	4201	6280	SO:0001819	synonymous_variant	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1608T>C	12.37:g.120650285A>G			B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	CCDS44997.1																																																																																				0.617	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		G	120650285	A	G	120650285	2	3	111	1	0	0	0	0	0	0	0	1	12858	175	7	3		3	PXN	12	120650285	Silent	SNP	A	TCGA-AK-3460-01A-02D-1361-10	7756487	120650285	13201610	53	6937											
FBXL3	26224	hgsc.bcm.edu	37	13	77581415	77581415	+	Silent	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr13:77581415A>G	ENST00000355619.5	-	5	1476	c.1152T>C	c.(1150-1152)ggT>ggC	p.G384G	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	384					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATAGGCGGCCACCACACATCT	0.413																																																0													120	114	116					13																	77581415		2203	4300	6503	SO:0001819	synonymous_variant	26224			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"F-boxes / Leucine-rich repeats"	13599	protein-coding gene	gene with protein product		605653	"F-box and leucine-rich repeat protein 3A"	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.1152T>C	13.37:g.77581415A>G			B2RB04|Q9P122	Silent	SNP	ENST00000355619.5	37	CCDS9457.1																																																																																				0.413	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			G	77581415	A	G	77581415	2	3	111	1	0	0	0	0	0	0	0	1	5722	146	6	3		3	FBXL3	13	77581415	Silent	SNP	A	TCGA-AK-3460-01A-02D-1361-10		77581415	37588463	54	6938											
KIAA0586	9786	hgsc.bcm.edu	37	14	58954742	58954742	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr14:58954742C>G	ENST00000556134.1	+	24	3671	c.3397C>G	c.(3397-3399)Ctt>Gtt	p.L1133V	KIAA0586_ENST00000423743.3_Missense_Mutation_p.L1104V|KIAA0586_ENST00000261244.5_Missense_Mutation_p.L1072V|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.L1201V	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1133					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCCCAGAGCTTCCCAAGCC	0.458																																																0													33	34	34					14																	58954742		1889	4108	5997	SO:0001583	missense	9786			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3397C>G	14.37:g.58954742C>G	ENSP00000452351:p.Leu1133Val		B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009521	0.35415	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.18	-3.54	0.04653	.	0.807763	0.11394	N	0.568500	T	0.28134	0.0694	L	0.50333	1.59	0.21020	N	0.999801	B;B;P;B;B;B	0.36837	0.009;0.021;0.571;0.417;0.021;0.037	B;B;B;B;B;B	0.31101	0.005;0.012;0.121;0.124;0.012;0.012	T	0.15636	-1.0430	10	0.25106	T	0.35	.	1.8586	0.03184	0.112:0.3965:0.2185:0.273	.	1008;1008;1201;1072;1133;1104	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	V	1201;1133;1104;1072;1008	ENSP00000346359:L1201V;ENSP00000452351:L1133V;ENSP00000399427:L1104V;ENSP00000261244:L1072V	ENSP00000261244:L1072V	L	+	1	0	KIAA0586	58024495	0.224000	0.23674	0.887000	0.34795	0.951000	0.60555	0.023000	0.13533	-0.523000	0.06409	0.580000	0.79431	CTT		0.458	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		G	58954742	C	G	58954742	3	3	111	1	0	0	0	0	1	0	0	0	8188	797	28	4	3300	4	KIAA0586	14	58954742	Missense_Mutation	SNP	C	TCGA-AK-3460-01A-02D-1361-10		58954742	48394798	55	6939											
SMEK1	55671	hgsc.bcm.edu;ucsc.edu	37	14	91937228	91937228	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr14:91937228C>A	ENST00000554943.1	-	10	1728	c.1613G>T	c.(1612-1614)cGg>cTg	p.R538L	SMEK1_ENST00000555462.1_Missense_Mutation_p.R299L|SMEK1_ENST00000337238.4_Missense_Mutation_p.R525L|SMEK1_ENST00000554684.1_Missense_Mutation_p.R525L|SMEK1_ENST00000428424.2_Missense_Mutation_p.R299L			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	538					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)		TAGCACTCTCCGGAGGATATC	0.353																																																0													119	121	120					14																	91937228		2203	4300	6503	SO:0001583	missense	55671			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.1613G>T	14.37:g.91937228C>A	ENSP00000450883:p.Arg538Leu		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.376668	0.95945	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.84846	2.72	0.80722	D	1	D;D;D	0.76494	0.992;0.989;0.999	D;P;D	0.72982	0.969;0.9;0.979	T	0.68762	-0.5323	10	0.23302	T	0.38	-7.1543	19.7741	0.96385	0.0:1.0:0.0:0.0	.	299;538;525	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	L	525;525;299;538;299;525	ENSP00000450864:R525L;ENSP00000337125:R525L;ENSP00000392704:R299L;ENSP00000450883:R538L;ENSP00000450891:R299L;ENSP00000452596:R525L	ENSP00000337125:R525L	R	-	2	0	SMEK1	91006981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.066000	0.71185	2.673000	0.90976	0.557000	0.71058	CGG		0.353	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		A	91937228	C	A	91937228	3	1	111	1	0	0	0	0	1	0	0	0	14799	652	23	4	912	4	SMEK1	14	91937228	Missense_Mutation	SNP	C	TCGA-AK-3460-01A-02D-1361-10	32982486	91937228	15412312	56	6940											
UBR1	197131	hgsc.bcm.edu;ucsc.edu	37	15	43367229	43367229	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr15:43367229G>C	ENST00000290650.4	-	4	554	c.476C>G	c.(475-477)aCt>aGt	p.T159S	UBR1_ENST00000382177.2_Missense_Mutation_p.T159S	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	159					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAAGGGCCAGTTTTCCATGC	0.358																																																0													179	191	187					15																	43367229		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.476C>G	15.37:g.43367229G>C	ENSP00000290650:p.Thr159Ser		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336730	0.24253	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	D;D	0.82081	-1.57;-1.57	5.18	5.18	0.71444	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.278041	0.33916	N	0.004432	T	0.68632	0.3022	N	0.11870	0.19	0.37886	D	0.930541	B;P	0.39352	0.372;0.669	B;B	0.34931	0.158;0.192	T	0.70615	-0.4823	10	0.13470	T	0.59	0.0962	18.6932	0.91590	0.0:0.0:1.0:0.0	.	159;159	B4DYL2;Q8IWV7	.;UBR1_HUMAN	S	159	ENSP00000290650:T159S;ENSP00000371612:T159S	ENSP00000290650:T159S	T	-	2	0	UBR1	41154521	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.006000	0.57083	2.399000	0.81585	0.561000	0.74099	ACT		0.358	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		C	43367229	G	C	43367229	3	2	111	1	0	0	0	0	1	0	0	0	16906	1029	36	4	4949	4	UBR1	15	43367229	Missense_Mutation	SNP	G	TCGA-AK-3460-01A-02D-1361-10		43367229	59164163	57	6941											
LINGO1	84894	hgsc.bcm.edu	37	15	77907534	77907534	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr15:77907534A>T	ENST00000355300.6	-	2	889	c.715T>A	c.(715-717)Tac>Aac	p.Y239N	LINGO1_ENST00000561030.1_Missense_Mutation_p.Y233N	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	239					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGAGTCGGTACAGCCTCTTG	0.597																																																0													117	126	123					15																	77907534		2174	4280	6454	SO:0001583	missense	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.715T>A	15.37:g.77907534A>T	ENSP00000347451:p.Tyr239Asn		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364297	0.24684	.	.	ENSG00000169783	ENST00000355300	T	0.52057	0.68	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.67953	2.075	0.80722	D	1	B	0.31274	0.317	B	0.30716	0.119	T	0.43163	-0.9408	10	0.28530	T	0.3	.	15.5531	0.76170	1.0:0.0:0.0:0.0	.	239	Q96FE5	LIGO1_HUMAN	N	239	ENSP00000347451:Y239N	ENSP00000347451:Y239N	Y	-	1	0	LINGO1	75694589	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.426000	0.59882	2.087000	0.62958	0.459000	0.35465	TAC		0.597	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		T	77907534	A	T	77907534	3	4	111	1	0	0	0	0	1	0	0	0	8816	391	14	5	1151	5	LINGO1	15	77907534	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	34540305	77907534	24623858	58	6942											
PSMD7	5713	hgsc.bcm.edu;ucsc.edu	37	16	74334042	74334042	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr16:74334042T>G	ENST00000219313.4	+	2	244	c.104T>G	c.(103-105)gTt>gGt	p.V35G	PSMD7_ENST00000540379.1_5'UTR|PSMD7_ENST00000567958.1_Missense_Mutation_p.V35G|PSMD7_ENST00000568615.2_Missense_Mutation_p.V35G	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	35	MPN.				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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CAGAAGCGTGTTGTTGGTGTG	0.403																																																0													146	121	129					16																	74334042		2198	4300	6498	SO:0001583	missense	5713			D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"Proteasome (prosome, macropain) subunits"	9565	protein-coding gene	gene with protein product	"Mov34 homolog"	157970	"proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.104T>G	16.37:g.74334042T>G	ENSP00000219313:p.Val35Gly		D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	ENST00000219313.4	37	CCDS10910.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.850580	0.91277	.	.	ENSG00000103035	ENST00000219313	T	0.66460	-0.21	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.87649	0.6230	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91563	0.5266	10	0.87932	D	0	-43.2565	15.9444	0.79782	0.0:0.0:0.0:1.0	.	35	P51665	PSD7_HUMAN	G	35	ENSP00000219313:V35G	ENSP00000219313:V35G	V	+	2	0	PSMD7	72891543	1.000000	0.71417	0.932000	0.37286	0.910000	0.53928	7.981000	0.88123	2.173000	0.68751	0.482000	0.46254	GTT		0.403	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		G	74334042	T	G	74334042	3	3	111	1	0	0	0	0	1	0	0	0	12708	1725	60	5	110	5	PSMD7	16	74334042	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10		74334042	16020711	59	6943											
ADAMTS18	170692	hgsc.bcm.edu	37	16	77398222	77398222	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr16:77398222A>G	ENST00000282849.5	-	5	1253	c.835T>C	c.(835-837)Tct>Cct	p.S279P		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	279					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTCGCCCAGAGCTCCCATAT	0.478																																																0													77	74	75					16																	77398222		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.835T>C	16.37:g.77398222A>G	ENSP00000282849:p.Ser279Pro		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654188	0.29425	.	.	ENSG00000140873	ENST00000282849	T	0.61040	0.14	5.17	-7.98	0.01135	.	1.422770	0.04156	N	0.322235	T	0.34193	0.0889	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10730	-1.0617	10	0.25751	T	0.34	.	0.8098	0.01091	0.3026:0.2688:0.1239:0.3046	.	279	Q8TE60	ATS18_HUMAN	P	279	ENSP00000282849:S279P	ENSP00000282849:S279P	S	-	1	0	ADAMTS18	75955723	0.001000	0.12720	0.413000	0.26509	0.984000	0.73092	0.100000	0.15231	-1.093000	0.03058	0.482000	0.46254	TCT		0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			G	77398222	A	G	77398222	3	3	111	1	0	0	0	0	1	0	0	0	263	304	11	3	2906	3	ADAMTS18	16	77398222	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	3064180	77398222	12956531	60	6944											
MAP2K3	5606	hgsc.bcm.edu	37	17	21207795	21207795	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr17:21207795T>G	ENST00000342679.4	+	8	875	c.626T>G	c.(625-627)tTt>tGt	p.F209C	MAP2K3_ENST00000316920.6_Missense_Mutation_p.F180C|MAP2K3_ENST00000361818.5_Missense_Mutation_p.F180C	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ATGTGTGACTTTGGCATCAGT	0.587																																																0													313	212	246					17																	21207795		2203	4300	6503	SO:0001583	missense	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.626T>G	17.37:g.21207795T>G	ENSP00000345083:p.Phe209Cys		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952334	0.73787	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.74002	-0.8;-0.8	4.98	3.9	0.45041	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.91188	0.7224	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91973	0.5588	10	0.87932	D	0	-16.5084	10.5968	0.45343	0.0:0.0763:0.0:0.9237	.	209	P46734	MP2K3_HUMAN	C	209;180;180;213	ENSP00000345083:F209C;ENSP00000355081:F180C	ENSP00000319139:F213C	F	+	2	0	MAP2K3	21148388	1.000000	0.71417	0.929000	0.37066	0.958000	0.62258	6.157000	0.71846	0.747000	0.32809	0.460000	0.39030	TTT		0.587	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		G	21207795	T	G	21207795	3	3	111	1	0	0	0	0	1	0	0	0	9240	1841	64	5	656	5	MAP2K3	17	21207795	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10		21207795	59987415	61	6945											
NF1	4763	hgsc.bcm.edu	37	17	29528456	29528456	+	Missense_Mutation	SNP	A	A	G	rs587782233		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	A	G	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr17:29528456A>G	ENST00000358273.4	+	11	1596	c.1213A>G	c.(1213-1215)Aca>Gca	p.T405A	NF1_ENST00000431387.4_Missense_Mutation_p.T405A|NF1_ENST00000356175.3_Missense_Mutation_p.T405A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	405					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCACCTTCTACATTTCACTA	0.299			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)											84	94	91					17																	29528456		2203	4294	6497	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1213A>G	17.37:g.29528456A>G	ENSP00000351015:p.Thr405Ala		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	9.218	1.032574	0.19590	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.17	5.17	0.71159	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	N	0.21194	0.64	0.80722	D	1	B;D;B;B;B	0.56035	0.02;0.974;0.041;0.049;0.049	B;D;B;B;B	0.67725	0.017;0.953;0.032;0.028;0.008	T	0.73369	-0.4004	10	0.06757	T	0.87	.	10.8511	0.46771	0.8588:0.0:0.0:0.1412	.	405;405;405;405;405	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	A	405;405;405;71	ENSP00000412921:T405A;ENSP00000351015:T405A;ENSP00000348498:T405A;ENSP00000389907:T71A	ENSP00000348498:T405A	T	+	1	0	NF1	26552582	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.701000	0.74624	1.953000	0.56701	0.402000	0.26972	ACA		0.299	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		G	29528456	A	G	29528456	3	3	111	1	0	0	0	0	1	0	0	0	10358	391	14	3	1255	3	NF1	17	29528456	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	8320661	29528456	51666754	62	6946											
CCDC45	90799	hgsc.bcm.edu;ucsc.edu	37	17	62506379	62506379	+	Silent	SNP	C	C	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr17:62506379C>A	ENST00000556440.2	+	3	747	c.237C>A	c.(235-237)gtC>gtA	p.V79V	CEP95_ENST00000553412.1_5'UTR|CEP95_ENST00000581056.1_Silent_p.V79V	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	79						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						ACTTGCAGGTCAGCTTGTCTC	0.373																																																0													109	101	104					17																	62506379		1922	4146	6068	SO:0001819	synonymous_variant	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.237C>A	17.37:g.62506379C>A			B4DMD2|Q96M81	Silent	SNP	ENST00000556440.2	37	CCDS45763.1																																																																																				0.373	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		A	62506379	C	A	62506379	2	1	111	1	0	0	0	0	0	0	0	1	2818	813	29	4		4	CCDC45	17	62506379	Silent	SNP	C	TCGA-AK-3460-01A-02D-1361-10	32977923	62506379	18688831	63	6947											
CYGB	114757	hgsc.bcm.edu	37	17	74527607	74527607	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr17:74527607A>T	ENST00000293230.5	-	2	672	c.310T>A	c.(310-312)Tct>Act	p.S104T	CYGB_ENST00000586160.1_5'Flank|CYGB_ENST00000589342.1_Missense_Mutation_p.S104T|CYGB_ENST00000590175.1_Missense_Mutation_p.S39T|CYGB_ENST00000589145.1_Missense_Mutation_p.S39T|PRCD_ENST00000592432.1_Intron	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	104	Globin.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						GCGAGCACAGAGGACACCTTG	0.647																																																0													104	91	96					17																	74527607		2203	4300	6503	SO:0001583	missense	114757			AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"stellate cell activation-associated protein", "histoglobin"	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.310T>A	17.37:g.74527607A>T	ENSP00000293230:p.Ser104Thr		Q541Y7|Q8N2X5	Missense_Mutation	SNP	ENST00000293230.5	37	CCDS11746.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318240	0.40996	.	.	ENSG00000161544	ENST00000293230	D	0.93076	-3.16	5.52	4.43	0.53597	Globin-like (1);Globin, structural domain (1);	0.169812	0.56097	D	0.000040	D	0.88085	0.6342	L	0.33753	1.03	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.82131	-0.0609	10	0.40728	T	0.16	-13.9841	9.9562	0.41668	0.729:0.0:0.0:0.271	.	104	Q8WWM9	CYGB_HUMAN	T	104	ENSP00000293230:S104T	ENSP00000293230:S104T	S	-	1	0	CYGB	72039202	1.000000	0.71417	0.951000	0.38953	0.940000	0.58332	3.855000	0.55957	0.901000	0.36495	0.379000	0.24179	TCT		0.647	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450590.1	NM_134268		T	74527607	A	T	74527607	3	4	111	1	0	0	0	0	1	0	0	0	4141	304	11	5	274	5	CYGB	17	74527607	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	12021228	74527607	6667603	64	6948											
SAFB2	9667	hgsc.bcm.edu;ucsc.edu	37	19	5621374	5621374	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr19:5621374T>C	ENST00000252542.4	-	2	484	c.220A>G	c.(220-222)Att>Gtt	p.I74V	SAFB_ENST00000538656.1_5'Flank|SAFB_ENST00000592224.1_5'Flank|SAFB_ENST00000292123.5_5'Flank|SAFB_ENST00000433404.1_5'Flank|SAFB_ENST00000454510.1_5'Flank|SAFB_ENST00000588852.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCGATGCCAATTTCATCAGGA	0.438																																					Ovarian(127;888 1728 23957 44128 52668)											0													330	303	312					19																	5621374		2203	4300	6503	SO:0001583	missense	9667			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.220A>G	19.37:g.5621374T>C	ENSP00000252542:p.Ile74Val		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153724	0.57259	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542;ENST00000536849	T	0.11385	2.78	4.44	-3.05	0.05396	DNA-binding SAP (1);	0.624763	0.13707	N	0.368361	T	0.07324	0.0185	L	0.35288	1.05	0.24104	N	0.995865	B;B	0.15473	0.01;0.013	B;B	0.15870	0.014;0.004	T	0.30794	-0.9966	10	0.33940	T	0.23	-0.7676	9.3049	0.37870	0.0:0.0765:0.5473:0.3762	.	74;74	A0PJ47;Q14151	.;SAFB2_HUMAN	V	74;74;74;74;53	ENSP00000252542:I74V	ENSP00000252542:I74V	I	-	1	0	SAFB2	5572374	0.534000	0.26362	0.002000	0.10522	0.861000	0.49209	0.429000	0.21412	-0.604000	0.05760	0.379000	0.24179	ATT		0.438	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		C	5621374	T	C	5621374	3	2	111	1	0	0	0	0	1	0	0	0	13813	1493	52	3	2721	3	SAFB2	19	5621374	Missense_Mutation	SNP	T	TCGA-AK-3460-01A-02D-1361-10		5621374	53507609	65	6949											
GPR108	56927	hgsc.bcm.edu;ucsc.edu	37	19	6731511	6731511	+	Silent	SNP	C	C	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr19:6731511C>T	ENST00000264080.7	-	15	1349	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Silent_p.L199L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	441						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAACAGCTTCAGCTTGGCCA	0.667																																																0													25	27	26					19																	6731511		2058	4188	6246	SO:0001819	synonymous_variant	56927				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1323G>A	19.37:g.6731511C>T			B9EJD7	Silent	SNP	ENST00000264080.7	37	CCDS42479.1																																																																																				0.667	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			T	6731511	C	T	6731511	2	4	111	1	0	0	0	0	0	0	0	1	6626	813	29	2		2	GPR108	19	6731511	Silent	SNP	C	TCGA-AK-3460-01A-02D-1361-10	1110137	6731511	52397472	66	6950											
PPP1R15A	23645	hgsc.bcm.edu	37	19	49377208	49377208	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr19:49377208A>G	ENST00000200453.5	+	2	987	c.718A>G	c.(718-720)Agt>Ggt	p.S240G		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	240	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		AACAGAAAGAAGTAAAGGAGC	0.567																																																0													68	78	75					19																	49377208		2203	4300	6503	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.718A>G	19.37:g.49377208A>G	ENSP00000200453:p.Ser240Gly		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565390	0.27915	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05382	3.45	3.92	0.7	0.18099	.	2.114120	0.01652	N	0.024611	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	P	0.39216	0.664	B	0.33454	0.164	T	0.33085	-0.9882	10	0.23891	T	0.37	1.1235	5.6885	0.17817	0.6369:0.0:0.3631:0.0	.	240	O75807	PR15A_HUMAN	G	240;80;198	ENSP00000200453:S240G	ENSP00000200453:S240G	S	+	1	0	PPP1R15A	54069020	0.001000	0.12720	0.000000	0.03702	0.026000	0.11368	0.607000	0.24209	0.213000	0.20722	0.459000	0.35465	AGT		0.567	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		G	49377208	A	G	49377208	3	3	111	1	0	0	0	0	1	0	0	0	12368	72	3	3	720	3	PPP1R15A	19	49377208	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	42645697	49377208	9751775	67	6951											
MYH14	79784	hgsc.bcm.edu	37	19	50813031	50813033	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr19:50813031_50813033delCAG	ENST00000596571.1	+	40	5972_5974	c.5972_5974delCAG	c.(5971-5976)ccagcc>ccc	p.A1992del	MYH14_ENST00000440075.2_In_Frame_Del_p.A2033del|MYH14_ENST00000598205.1_In_Frame_Del_p.A2000del|MYH14_ENST00000376970.2_In_Frame_Del_p.A2025del|CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000601313.1_In_Frame_Del_p.A2033del|MYH14_ENST00000262269.8_In_Frame_Del_p.A2033del|MYH14_ENST00000425460.1_In_Frame_Del_p.A2000del			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1992					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGGTCCCCACCAGCCCACCCCCA	0.695																																																0																																										SO:0001651	inframe_deletion	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5972_5974delCAG	19.37:g.50813031_50813033delCAG	ENSP00000472819:p.Ala1992del		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	In_Frame_Del	DEL	ENST00000596571.1	37	CCDS59411.1																																																																																				0.695	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		-	50813033	CAG	-	50813031	7	5	111	1	0	1	0	1	0	0	0	0	10035	594	21	0	6261	0	MYH14	19	50813031	In_Frame_Del	DEL	CAG	TCGA-AK-3460-01A-02D-1361-10	1435823	50813031	8315952	68	6952											
PHACTR3	116154	hgsc.bcm.edu	37	20	58322874	58322874	+	Silent	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr20:58322874G>A	ENST00000371015.1	+	3	809	c.342G>A	c.(340-342)ctG>ctA	p.L114L	PHACTR3_ENST00000395639.4_Silent_p.L73L|PHACTR3_ENST00000355648.4_Silent_p.L73L|PHACTR3_ENST00000395636.2_Silent_p.L73L|PHACTR3_ENST00000361300.4_Silent_p.L73L|PHACTR3_ENST00000541461.1_Silent_p.L73L|PHACTR3_ENST00000359926.3_Silent_p.L111L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	114						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGGGGCTGCTGGAGATGATGG	0.582																																																0													151	129	136					20																	58322874		2203	4300	6503	SO:0001819	synonymous_variant	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.342G>A	20.37:g.58322874G>A			B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	CCDS13480.1																																																																																				0.582	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		A	58322874	G	A	58322874	2	1	111	1	0	0	0	0	0	0	0	1	11813	1335	47	2		2	PHACTR3	20	58322874	Silent	SNP	G	TCGA-AK-3460-01A-02D-1361-10		58322874	4702646	69	6953											
WDR13	64743	hgsc.bcm.edu;ucsc.edu	37	X	48462751	48462751	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chrX:48462751A>C	ENST00000218056.5	+	8	1751	c.1246A>C	c.(1246-1248)Atg>Ctg	p.M416L	WDR13_ENST00000376729.5_Missense_Mutation_p.M416L	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	416						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CTGTCCCCTCATGTCCTTCCG	0.637																																																0													69	51	57					X																	48462751		2203	4300	6503	SO:0001583	missense	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1246A>C	X.37:g.48462751A>C	ENSP00000218056:p.Met416Leu		Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013769	0.54468	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.69306	-0.39;-0.39	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	L	0.37630	1.12	0.58432	D	0.999998	B	0.06786	0.001	B	0.12156	0.007	T	0.50206	-0.8855	10	0.12766	T	0.61	0.4528	12.7506	0.57306	1.0:0.0:0.0:0.0	.	416	Q9H1Z4	WDR13_HUMAN	L	416	ENSP00000365919:M416L;ENSP00000218056:M416L	ENSP00000218056:M416L	M	+	1	0	WDR13	48347695	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.496000	0.90485	1.918000	0.55548	0.483000	0.47432	ATG		0.637	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			C	48462751	A	C	48462751	3	2	111	1	0	0	0	0	1	0	0	0	17280	217	8	5	1276	5	WDR13	23	48462751	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10		48462751	106807809	70	6954											
RPS6KA6	27330	hgsc.bcm.edu;ucsc.edu	37	X	83320077	83320077	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chrX:83320077A>G	ENST00000262752.2	-	21	2021	c.2014T>C	c.(2014-2016)Tat>Cat	p.Y672H	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Y672H	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	672	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCAGCAGTATACCGCTGATGT	0.338																																																0													165	139	148					X																	83320077		2203	4300	6503	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.2014T>C	X.37:g.83320077A>G	ENSP00000262752:p.Tyr672His		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119664	0.77323	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.40476	1.03;1.03	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060180	0.64402	D	0.000002	T	0.52980	0.1768	L	0.49699	1.58	0.58432	D	0.999999	P;P	0.48911	0.837;0.917	P;P	0.56343	0.722;0.796	T	0.56914	-0.7900	10	0.87932	D	0	.	13.6714	0.62427	1.0:0.0:0.0:0.0	.	672;672	B7ZL90;Q9UK32	.;KS6A6_HUMAN	H	672	ENSP00000262752:Y672H;ENSP00000440830:Y672H	ENSP00000262752:Y672H	Y	-	1	0	RPS6KA6	83206733	1.000000	0.71417	0.990000	0.47175	0.890000	0.51754	6.648000	0.74359	1.670000	0.50864	0.486000	0.48141	TAT		0.338	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		G	83320077	A	G	83320077	3	3	111	1	0	0	0	0	1	0	0	0	13661	391	14	3	231	3	RPS6KA6	23	83320077	Missense_Mutation	SNP	A	TCGA-AK-3460-01A-02D-1361-10	34857326	83320077	71950483	71	6955											
RCC2	55920	hgsc.bcm.edu	37	1	17743003	17743003	+	Silent	SNP	T	T	A			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr1:17743003T>A	ENST00000375436.4	-	8	1186	c.999A>T	c.(997-999)cgA>cgT	p.R333R	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Silent_p.R333R	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	333					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGGCCACGTCTCGTACAACCA	0.527																																																0													111	88	96					1																	17743003		2203	4300	6503	SO:0001819	synonymous_variant	55920				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.999A>T	1.37:g.17743003T>A			Q8IVL9|Q9BSN6|Q9NPV8	Silent	SNP	ENST00000375436.4	37	CCDS181.1																																																																																				0.527	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		A	17743003	T	A	17743003	2	1	112	1	0	0	0	0	0	0	0	1	13180	1538	54	5		5	RCC2	1	17743003	Silent	SNP	T	TCGA-AK-3461-01A-02D-1361-10		17743003	231507618	1	6956											
C1orf216	127703	hgsc.bcm.edu;ucsc.edu	37	1	36181451	36181451	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr1:36181451C>T	ENST00000270815.4	-	2	1242	c.472G>A	c.(472-474)Gag>Aag	p.E158K	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	158										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TTGTAGCGCTCCTGGACTTGT	0.632											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													148	142	144					1																	36181451		2203	4300	6503	SO:0001583	missense	127703			AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.472G>A	1.37:g.36181451C>T	ENSP00000425166:p.Glu158Lys	861	D3DPS1|Q8N8N6	Missense_Mutation	SNP	ENST00000270815.4	37	CCDS395.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013200	0.93346	.	.	ENSG00000142686	ENST00000270815;ENST00000422623	.	.	.	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.64450	0.2599	L	0.59436	1.845	0.58432	D	0.999998	P	0.51537	0.946	P	0.52758	0.708	T	0.65635	-0.6120	9	0.49607	T	0.09	-17.6381	13.3148	0.60401	0.0:0.9242:0.0:0.0758	.	158	Q8TAB5	CA216_HUMAN	K	158;128	.	ENSP00000425166:E158K	E	-	1	0	C1orf216	35954038	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.284000	0.58983	2.486000	0.83907	0.561000	0.74099	GAG		0.632	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		T	36181451	C	T	36181451	3	4	112	1	0	0	0	0	1	0	0	0	2033	864	30	2	221	2	C1orf216	1	36181451	Missense_Mutation	SNP	C	TCGA-AK-3461-01A-02D-1361-10	18438448	36181451	213069170	2	6957											
ZC3H12A	80149	hgsc.bcm.edu	37	1	37949076	37949076	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr1:37949076G>C	ENST00000373087.6	+	6	1780	c.1664G>C	c.(1663-1665)aGc>aCc	p.S555T		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A									p.S555N(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGCAGGCCAGCGTGTATACT	0.682																																																1	Substitution - Missense(1)	ovary(1)											53	61	58					1																	37949076		2203	4300	6503	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1664G>C	1.37:g.37949076G>C	ENSP00000362179:p.Ser555Thr			Missense_Mutation	SNP	ENST00000373087.6	37	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795326	0.16327	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.47528	0.84	5.29	3.41	0.39046	.	0.602001	0.19720	N	0.107604	T	0.36744	0.0978	L	0.50333	1.59	0.09310	N	1	P;B	0.37276	0.589;0.156	B;B	0.30316	0.114;0.023	T	0.30179	-0.9987	10	0.52906	T	0.07	-4.0199	9.5555	0.39337	0.2687:0.0:0.7313:0.0	.	350;555	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	T	555	ENSP00000362179:S555T	ENSP00000362174:S555T	S	+	2	0	ZC3H12A	37721663	0.989000	0.36119	0.959000	0.39883	0.964000	0.63967	0.923000	0.28757	1.224000	0.43551	0.561000	0.74099	AGC		0.682	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		C	37949076	G	C	37949076	3	2	112	1	0	0	0	0	1	0	0	0	17566	971	34	4	1682	4	ZC3H12A	1	37949076	Missense_Mutation	SNP	G	TCGA-AK-3461-01A-02D-1361-10	1767625	37949076	211301545	3	6958											
STXBP3	6814	hgsc.bcm.edu	37	1	109325070	109325070	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr1:109325070A>G	ENST00000370008.3	+	10	886	c.836A>G	c.(835-837)gAg>gGg	p.E279G		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	279					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AAAGAAAAGGAGGCCATCCTT	0.333																																																0													100	98	99					1																	109325070		2203	4300	6503	SO:0001583	missense	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.836A>G	1.37:g.109325070A>G	ENSP00000359025:p.Glu279Gly		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	CCDS790.1	.	.	.	.	.	.	.	.	.	.	A	31	5.091938	0.94149	.	.	ENSG00000116266	ENST00000370008	T	0.79141	-1.24	5.56	5.56	0.83823	.	0.103414	0.64402	N	0.000004	D	0.86016	0.5832	M	0.85373	2.75	0.80722	D	1	D	0.69078	0.997	D	0.63793	0.918	D	0.88776	0.3267	10	0.87932	D	0	-22.3667	15.3769	0.74615	1.0:0.0:0.0:0.0	.	279	O00186	STXB3_HUMAN	G	279	ENSP00000359025:E279G	ENSP00000359025:E279G	E	+	2	0	STXBP3	109126593	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.138000	0.77305	2.100000	0.63781	0.528000	0.53228	GAG		0.333	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		G	109325070	A	G	109325070	3	3	112	1	0	0	0	0	1	0	0	0	15359	304	11	3	874	3	STXBP3	1	109325070	Missense_Mutation	SNP	A	TCGA-AK-3461-01A-02D-1361-10	71375994	109325070	139925551	4	6959											
TLR5	7100	hgsc.bcm.edu;ucsc.edu	37	1	223284977	223284977	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr1:223284977T>C	ENST00000540964.1	-	4	1858	c.1397A>G	c.(1396-1398)gAt>gGt	p.D466G	TLR5_ENST00000342210.6_Missense_Mutation_p.D466G			O60602	TLR5_HUMAN	toll-like receptor 5	466			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGGGGTTTGATCTCCACTACA	0.418																																																0													82	85	84					1																	223284977		2203	4300	6503	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1397A>G	1.37:g.223284977T>C	ENSP00000440643:p.Asp466Gly		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	T	0.325	-0.959357	0.02267	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.38240	1.15;1.15;1.15	5.49	-11.0	0.00169	.	2.808200	0.01124	N	0.005840	T	0.13157	0.0319	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25467	-1.0131	10	0.05721	T	0.95	.	12.4716	0.55790	0.0:0.1442:0.2186:0.6373	.	466	O60602	TLR5_HUMAN	G	466	ENSP00000440643:D466G;ENSP00000355846:D466G;ENSP00000340089:D466G	ENSP00000340089:D466G	D	-	2	0	TLR5	221351600	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.678000	0.01942	-2.688000	0.00405	-0.864000	0.03007	GAT		0.418	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		C	223284977	T	C	223284977	3	2	112	1	0	0	0	0	1	0	0	0	15959	1435	50	3	1183	3	TLR5	1	223284977	Missense_Mutation	SNP	T	TCGA-AK-3461-01A-02D-1361-10	113959907	223284977	25965644	5	6960											
GREB1	9687	hgsc.bcm.edu	37	2	11777871	11777871	+	Silent	SNP	G	G	A			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr2:11777871G>A	ENST00000381486.2	+	31	5676	c.5376G>A	c.(5374-5376)ccG>ccA	p.P1792P	GREB1_ENST00000234142.5_Silent_p.P1792P|GREB1_ENST00000396123.1_Silent_p.P790P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1792						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGGTCGTGCCGGCCCAGTACA	0.657																																					Ovarian(39;850 945 2785 23371 33093)											0													52	59	56					2																	11777871		2109	4212	6321	SO:0001819	synonymous_variant	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5376G>A	2.37:g.11777871G>A			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	CCDS42655.1																																																																																				0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11777871	G	A	11777871	2	1	112	1	0	0	0	0	0	0	0	1	6762	1103	39	1		1	GREB1	2	11777871	Silent	SNP	G	TCGA-AK-3461-01A-02D-1361-10		11777871	231421502	6	6961											
UGP2	7360	hgsc.bcm.edu;ucsc.edu	37	2	64083539	64083539	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr2:64083539T>C	ENST00000337130.5	+	2	595	c.119T>C	c.(118-120)cTc>cCc	p.L40P	UGP2_ENST00000467648.2_Missense_Mutation_p.L29P|UGP2_ENST00000394417.2_Missense_Mutation_p.L29P|UGP2_ENST00000445915.2_Missense_Mutation_p.L49P|UGP2_ENST00000487469.1_Intron	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	40					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GAAAAAATACTCACCACAGCA	0.463																																																0													180	184	183					2																	64083539		2203	4300	6503	SO:0001583	missense	7360				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.119T>C	2.37:g.64083539T>C	ENSP00000338703:p.Leu40Pro		Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495797	0.64186	.	.	ENSG00000169764	ENST00000394417;ENST00000484142;ENST00000482668;ENST00000467648;ENST00000480679;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T;T	0.20332	2.08;2.08;2.19;2.08;2.08	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	L	0.29908	0.895	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.15870	0.014;0.006	T	0.02081	-1.1217	10	0.45353	T	0.12	-51.4235	15.6264	0.76863	0.0:0.0:0.0:1.0	.	49;40	E7EUC7;Q16851	.;UGPA_HUMAN	P	29;40;29;29;29;40;29;32;49;29;29;29	ENSP00000377939:L29P;ENSP00000420793:L29P;ENSP00000338703:L40P;ENSP00000411803:L49P;ENSP00000420342:L29P	ENSP00000338703:L40P	L	+	2	0	UGP2	63937043	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.479000	0.73600	2.333000	0.79357	0.533000	0.62120	CTC		0.463	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		C	64083539	T	C	64083539	3	2	112	1	0	0	0	0	1	0	0	0	16948	1551	54	3	125	3	UGP2	2	64083539	Missense_Mutation	SNP	T	TCGA-AK-3461-01A-02D-1361-10	52305668	64083539	179115834	7	6962											
AOX1	316	hgsc.bcm.edu	37	2	201474078	201474078	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr2:201474078A>C	ENST00000374700.2	+	12	1335	c.1094A>C	c.(1093-1095)gAt>gCt	p.D365A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	365	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGGCATCCAGATTCAGATCTG	0.368																																																0													91	86	88					2																	201474078		2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1094A>C	2.37:g.201474078A>C	ENSP00000363832:p.Asp365Ala		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	3.646	-0.072546	0.07228	.	.	ENSG00000138356	ENST00000374700	T	0.20069	2.1	5.48	2.91	0.33838	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.239168	0.41097	D	0.000951	T	0.13372	0.0324	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.17561	-1.0365	10	0.49607	T	0.09	-3.8774	7.5572	0.27831	0.6228:0.2738:0.0:0.1034	.	365	Q06278	ADO_HUMAN	A	365	ENSP00000363832:D365A	ENSP00000363832:D365A	D	+	2	0	AOX1	201182323	0.959000	0.32827	0.815000	0.32552	0.001000	0.01503	2.234000	0.43035	0.899000	0.36444	-0.490000	0.04691	GAT		0.368	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		C	201474078	A	C	201474078	3	2	112	1	0	0	0	0	1	0	0	0	729	333	12	5	1140	5	AOX1	2	201474078	Missense_Mutation	SNP	A	TCGA-AK-3461-01A-02D-1361-10	137390539	201474078	41725295	8	6963											
TRIP12	9320	hgsc.bcm.edu	37	2	230675716	230675716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr2:230675716G>A	ENST00000283943.5	-	14	2135	c.1957C>T	c.(1957-1959)Caa>Taa	p.Q653*	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Q701*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Q356*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	653					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AACAGCTGTTGAACATTTGTA	0.378																																																0													64	65	65					2																	230675716		2203	4300	6503	SO:0001587	stop_gained	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1957C>T	2.37:g.230675716G>A	ENSP00000283943:p.Gln653*		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	39	7.838859	0.98519	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.5388	0.95266	0.0:0.0:1.0:0.0	.	.	.	.	X	653;356;701	.	ENSP00000283943:Q653X	Q	-	1	0	TRIP12	230383960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.767000	0.98960	2.622000	0.88805	0.650000	0.86243	CAA		0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		A	230675716	G	A	230675716	4	1	112	1	0	0	0	0	0	1	0	0	16561	1299	45	2	4133	2	TRIP12	2	230675716	Nonsense_Mutation	SNP	G	TCGA-AK-3461-01A-02D-1361-10	29201638	230675716	12523657	9	6964											
EFHD1	80303	hgsc.bcm.edu	37	2	233527579	233527579	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr2:233527579G>A	ENST00000264059.3	+	2	847	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	EFHD1_ENST00000409613.1_Missense_Mutation_p.A28T|EFHD1_ENST00000409708.1_Missense_Mutation_p.A12T|EFHD1_ENST00000410095.1_Missense_Mutation_p.A12T	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	124	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		GAAGCTGGGGGCCCCCCAGAC	0.602																																																0													71	75	74					2																	233527579		2203	4300	6503	SO:0001583	missense	80303				CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"EF-hand domain containing"	29556	protein-coding gene	gene with protein product	"swiprosin-2"	611617	"EF hand domain containing 1"			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.370G>A	2.37:g.233527579G>A	ENSP00000264059:p.Ala124Thr		B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	37	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149656	0.78001	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000427698;ENST00000410095	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	4.98	4.98	0.66077	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	N	0.14661	0.345	0.80722	D	1	B;P	0.46859	0.103;0.885	B;P	0.51297	0.062;0.665	T	0.36065	-0.9763	10	0.34782	T	0.22	-16.4997	17.4183	0.87507	0.0:0.0:1.0:0.0	.	28;124	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	T	28;124;27;12;12;12	ENSP00000386556:A28T;ENSP00000264059:A124T;ENSP00000386243:A12T;ENSP00000401073:A12T;ENSP00000386685:A12T	ENSP00000264059:A124T	A	+	1	0	EFHD1	233235823	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.460000	0.97641	2.585000	0.87301	0.462000	0.41574	GCC		0.602	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		A	233527579	G	A	233527579	3	1	112	1	0	0	0	0	1	0	0	0	4950	1203	42	2	376	2	EFHD1	2	233527579	Missense_Mutation	SNP	G	TCGA-AK-3461-01A-02D-1361-10	2851863	233527579	9671794	10	6965											
ANKRD28	23243	hgsc.bcm.edu	37	3	15755032	15755032	+	Splice_Site	SNP	A	A	G			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr3:15755032A>G	ENST00000399451.2	-	10	1468		c.e10+1		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTAAGTACTTACTTTGCAGTG	0.433																																																0													153	144	147					3																	15755032		1957	4144	6101	SO:0001630	splice_region_variant	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1100+1T>C	3.37:g.15755032A>G			B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	SNP	ENST00000399451.2	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388815	0.82902	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0989	0.65042	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD28	15730036	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.168000	0.94781	2.130000	0.65690	0.533000	0.62120	.		0.433	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron	G	15755032	A	G	15755032	5	3	112	1	0	0	0	0	0	0	1	0	656	405	14	3	2135	3	ANKRD28	3	15755032	Splice_Site	SNP	A	TCGA-AK-3461-01A-02D-1361-10		15755032	182267398	11	6966											
DNAH12	201625	hgsc.bcm.edu	37	3	57389197	57389197	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr3:57389197G>C	ENST00000351747.2	-	43	6910	c.6730C>G	c.(6730-6732)Cga>Gga	p.R2244G	DNAH12_ENST00000344804.4_5'Flank	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2244	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTTAGAACTCGACATATTCTT	0.333																																																0													129	104	112					3																	57389197		692	1591	2283	SO:0001583	missense	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.6730C>G	3.37:g.57389197G>C	ENSP00000295937:p.Arg2244Gly		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37		.	.	.	.	.	.	.	.	.	.	G	17.60	3.430094	0.62844	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.57107	0.42;0.42	5.72	3.86	0.44501	Dynein heavy chain, P-loop containing D4 domain (1);	.	.	.	.	T	0.78059	0.4224	H	0.95712	3.71	0.80722	D	1	D	0.55172	0.97	P	0.60236	0.871	D	0.85130	0.0974	9	0.87932	D	0	.	15.2055	0.73175	0.0:0.0:0.7575:0.2425	.	2244	Q6ZR08	DYH12_HUMAN	G	2244;2263	ENSP00000295937:R2244G;ENSP00000418137:R2263G	ENSP00000295937:R2244G	R	-	1	2	DNAH12	57364237	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.727000	0.84838	0.818000	0.34468	0.655000	0.94253	CGA		0.333	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		C	57389197	G	C	57389197	3	2	112	1	0	0	0	0	1	0	0	0	4602	1066	37	4	2616	4	DNAH12	3	57389197	Missense_Mutation	SNP	G	TCGA-AK-3461-01A-02D-1361-10	41634165	57389197	140633233	12	6967											
PVRL3	25945	hgsc.bcm.edu	37	3	110831084	110831084	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr3:110831084T>C	ENST00000485303.1	+	2	643	c.368T>C	c.(367-369)tTt>tCt	p.F123S	PVRL3_ENST00000319792.3_Missense_Mutation_p.F123S|PVRL3_ENST00000493615.1_Missense_Mutation_p.F100S|PVRL3_ENST00000488016.1_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	123	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AGAGTCTTGTTTAAAAATTAC	0.388																																																0													115	111	113					3																	110831084		2203	4300	6503	SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.368T>C	3.37:g.110831084T>C	ENSP00000418070:p.Phe123Ser		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567933	0.86439	.	.	ENSG00000177707	ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766	D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48	5.43	5.43	0.79202	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	M	0.77712	2.385	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.981	D	0.97332	0.9951	10	0.87932	D	0	.	13.7177	0.62708	0.0:0.0:0.0:1.0	.	100;123	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	S	76;123;123;100;108	ENSP00000418327:F76S;ENSP00000418070:F123S;ENSP00000321514:F123S;ENSP00000420579:F100S;ENSP00000420479:F108S	ENSP00000321514:F123S	F	+	2	0	PVRL3	112313774	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.643000	0.74334	2.181000	0.69327	0.533000	0.62120	TTT		0.388	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		C	110831084	T	C	110831084	3	2	112	1	0	0	0	0	1	0	0	0	12847	1841	64	3	374	3	PVRL3	3	110831084	Missense_Mutation	SNP	T	TCGA-AK-3461-01A-02D-1361-10	53441887	110831084	87191346	13	6968											
KALRN	8997	hgsc.bcm.edu	37	3	124369683	124369683	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr3:124369683G>C	ENST00000291478.5	+	5	762	c.599G>C	c.(598-600)aGc>aCc	p.S200T	KALRN_ENST00000459915.1_5'UTR|KALRN_ENST00000360013.3_Missense_Mutation_p.S1897T|KALRN_ENST00000393496.1_Missense_Mutation_p.S238T|KALRN_ENST00000428018.2_Missense_Mutation_p.S168T	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1896					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TACCGGGGGAGCTTGAAAGAC	0.512																																																0													79	83	82					3																	124369683		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.599G>C	3.37:g.124369683G>C	ENSP00000291478:p.Ser200Thr		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.15|13.15	2.152632|2.152632	0.38021|0.38021	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000393496;ENST00000291478;ENST00000454902;ENST00000428018	.|T;T;T;T	.|0.61274	.|0.14;0.66;0.16;0.12	4.83|4.83	3.94|3.94	0.45596|0.45596	.|.	.|0.679004	.|0.15272	.|N	.|0.271183	T|T	0.52645|0.52645	0.1747|0.1747	M|M	0.71036|0.71036	2.16|2.16	0.35179|0.35179	D|D	0.772302|0.772302	.|B;B;B	.|0.26002	.|0.135;0.095;0.139	.|B;B;B	.|0.24155	.|0.026;0.051;0.018	T|T	0.55860|0.55860	-0.8074|-0.8074	5|10	.|0.21540	.|T	.|0.41	.|.	8.6777|8.6777	0.34189|0.34189	0.0811:0.1535:0.7654:0.0|0.0811:0.1535:0.7654:0.0	.|.	.|200;238;1896	.|C9JQ37;O60229-5;O60229	.|.;.;KALRN_HUMAN	P|T	1866|1897;238;200;168;168	.|ENSP00000353109:S1897T;ENSP00000377134:S238T;ENSP00000291478:S200T;ENSP00000402419:S168T	.|ENSP00000291478:S200T	A|S	+|+	1|2	0|0	KALRN|KALRN	125852373|125852373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.461000|3.461000	0.53035|0.53035	1.216000|1.216000	0.43427|0.43427	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.512	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		C	124369683	G	C	124369683	3	2	112	1	0	0	0	0	1	0	0	0	7977	971	34	4	5996	4	KALRN	3	124369683	Missense_Mutation	SNP	G	TCGA-AK-3461-01A-02D-1361-10	13538599	124369683	73652747	14	6969											
MED12L	116931	hgsc.bcm.edu	37	3	151134118	151134118	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr3:151134118C>T	ENST00000474524.1	+	41	6249	c.6211C>T	c.(6211-6213)Ccc>Tcc	p.P2071S	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2071	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			gccccagcagccccagcccca	0.542																																																0													24	28	26					3																	151134118		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6211C>T	3.37:g.151134118C>T	ENSP00000417235:p.Pro2071Ser		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	5.552	0.286812	0.10513	.	.	ENSG00000144893	ENST00000474524	T	0.56275	0.47	4.45	2.59	0.31030	.	2.084100	0.02523	U	0.092786	T	0.32941	0.0846	N	0.08118	0	0.80722	D	1	B	0.15930	0.015	B	0.19946	0.027	T	0.30937	-0.9961	10	0.08179	T	0.78	0.3584	8.0466	0.30553	0.1733:0.6458:0.1809:0.0	.	2071	Q86YW9	MD12L_HUMAN	S	2071	ENSP00000417235:P2071S	ENSP00000417235:P2071S	P	+	1	0	MED12L	152616808	0.875000	0.30112	0.997000	0.53966	0.972000	0.66771	0.249000	0.18216	0.459000	0.27016	0.591000	0.81541	CCC		0.542	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		T	151134118	C	T	151134118	3	4	112	1	0	0	0	0	1	0	0	0	9431	739	26	2	6373	2	MED12L	3	151134118	Missense_Mutation	SNP	C	TCGA-AK-3461-01A-02D-1361-10	26764435	151134118	46888312	15	6970											
LRRC66	339977	hgsc.bcm.edu;ucsc.edu	37	4	52862202	52862202	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr4:52862202T>G	ENST00000343457.3	-	4	992	c.986A>C	c.(985-987)cAc>cCc	p.H329P		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	329						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AATGCCCGTGTGCCTTCCTCC	0.567																																																0													36	36	36					4																	52862202		1877	4107	5984	SO:0001583	missense	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.986A>C	4.37:g.52862202T>G	ENSP00000341944:p.His329Pro			Missense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	9.935	1.215839	0.22373	.	.	ENSG00000188993	ENST00000343457	T	0.43688	0.94	3.89	-7.78	0.01223	.	4.753160	0.00166	N	0.000004	T	0.23014	0.0556	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13072	-1.0523	10	0.36615	T	0.2	2.1279	7.2746	0.26277	0.0:0.1861:0.5423:0.2716	.	329	Q68CR7	LRC66_HUMAN	P	329	ENSP00000341944:H329P	ENSP00000341944:H329P	H	-	2	0	LRRC66	52556959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.361000	0.02597	-1.517000	0.01780	-0.353000	0.07706	CAC		0.567	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		G	52862202	T	G	52862202	3	3	112	1	0	0	0	0	1	0	0	0	9020	1696	59	5	1660	5	LRRC66	4	52862202	Missense_Mutation	SNP	T	TCGA-AK-3461-01A-02D-1361-10		52862202	138292074	16	6971											
SLC4A4	8671	hgsc.bcm.edu	37	4	72423512	72423512	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr4:72423512A>T	ENST00000264485.5	+	22	2964	c.2847A>T	c.(2845-2847)agA>agT	p.R949S	SLC4A4_ENST00000340595.3_Missense_Mutation_p.R905S|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R949S|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R865S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	949					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CTCTGCGCAGAGTCCACCTGT	0.512																																																0													160	127	138					4																	72423512		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2847A>T	4.37:g.72423512A>T	ENSP00000264485:p.Arg949Ser		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.814829	0.90790	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	D;D;T;D	0.81908	-1.55;-1.55;-0.85;-1.55	5.95	-1.15	0.09709	Bicarbonate transporter, C-terminal (1);	0.094442	0.64402	D	0.000002	D	0.86727	0.6002	M	0.84156	2.68	0.53005	D	0.99996	D;P;D;D	0.63046	0.992;0.917;0.98;0.963	D;P;P;P	0.63113	0.911;0.774;0.856;0.864	T	0.83115	-0.0121	10	0.87932	D	0	.	3.9475	0.09355	0.3927:0.0:0.3311:0.2762	.	949;865;905;949	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	S	949;949;865;905	ENSP00000264485:R949S;ENSP00000393557:R949S;ENSP00000307349:R865S;ENSP00000344272:R905S	ENSP00000264485:R949S	R	+	3	2	SLC4A4	72642376	0.803000	0.28956	1.000000	0.80357	0.983000	0.72400	-0.001000	0.12947	0.154000	0.19237	-0.376000	0.06991	AGA		0.512	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		T	72423512	A	T	72423512	3	4	112	1	0	0	0	0	1	0	0	0	14662	301	11	5	3050	5	SLC4A4	4	72423512	Missense_Mutation	SNP	A	TCGA-AK-3461-01A-02D-1361-10	19561310	72423512	118730764	17	6972											
SYNPO2	171024	hgsc.bcm.edu	37	4	119948178	119948178	+	Silent	SNP	C	C	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr4:119948178C>T	ENST00000429713.2	+	3	836	c.654C>T	c.(652-654)ctC>ctT	p.L218L	SYNPO2_ENST00000434046.2_Silent_p.L218L|SYNPO2_ENST00000307142.4_Silent_p.L218L|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	218						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TAGTGGCTCTCCCGGGAGCTG	0.517																																																0													38	44	42					4																	119948178		2203	4300	6503	SO:0001819	synonymous_variant	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.654C>T	4.37:g.119948178C>T			B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	3.135	-0.177574	0.06380	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.73651	0.3614	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72327	-0.4327	4	.	.	.	-4.658	17.2979	0.87174	0.0:1.0:0.0:0.0	.	.	.	.	S	170	.	.	P	+	1	0	SYNPO2	120167626	0.811000	0.29063	1.000000	0.80357	0.293000	0.27360	1.509000	0.35780	2.586000	0.87340	0.557000	0.71058	CCC		0.517	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			T	119948178	C	T	119948178	2	4	112	1	0	0	0	0	0	0	0	1	15462	842	30	2		2	SYNPO2	4	119948178	Silent	SNP	C	TCGA-AK-3461-01A-02D-1361-10	47524666	119948178	71206098	18	6973											
FAM105A	54491	hgsc.bcm.edu	37	5	14602319	14602319	+	Missense_Mutation	SNP	C	C	A	rs144733724		TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr5:14602319C>A	ENST00000274217.3	+	5	496	c.376C>A	c.(376-378)Cac>Aac	p.H126N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	126										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TTGGCGGCATCACATTAAATG	0.343																																																0								C	ASN/HIS	1,4405	2.1+/-5.4	0,1,2202	102	98	99		376	4.7	0.1	5	dbSNP_134	99	0,8600		0,0,4300	yes	missense	FAM105A	NM_019018.2	68	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	126/357	14602319	1,13005	2203	4300	6503	SO:0001583	missense	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.376C>A	5.37:g.14602319C>A	ENSP00000274217:p.His126Asn		Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.380014	0.24944	2.27E-4	0.0	ENSG00000145569	ENST00000274217	T	0.17691	2.26	4.7	4.7	0.59300	.	0.236225	0.36628	N	0.002490	T	0.17916	0.0430	L	0.51422	1.61	0.24338	N	0.994979	P	0.35272	0.493	B	0.36845	0.234	T	0.13045	-1.0524	10	0.20519	T	0.43	-13.5922	14.5074	0.67762	0.0:0.8527:0.1473:0.0	.	126	Q9NUU6	F105A_HUMAN	N	126	ENSP00000274217:H126N	ENSP00000274217:H126N	H	+	1	0	FAM105A	14655319	0.222000	0.23652	0.146000	0.22360	0.994000	0.84299	3.961000	0.56759	2.311000	0.77944	0.555000	0.69702	CAC		0.343	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		A	14602319	C	A	14602319	3	1	112	1	0	0	0	0	1	0	0	0	5389	826	29	4	394	4	FAM105A	5	14602319	Missense_Mutation	SNP	C	TCGA-AK-3461-01A-02D-1361-10		14602319	166312941	19	6974											
NIPBL	25836	hgsc.bcm.edu	37	5	37051934	37051934	+	Silent	SNP	C	C	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr5:37051934C>T	ENST00000282516.8	+	41	7507	c.7008C>T	c.(7006-7008)aaC>aaT	p.N2336N	NIPBL_ENST00000448238.2_Silent_p.N2336N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2336					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTATGCGGAACAAGGCTGATC	0.318																																																0													82	87	85					5																	37051934		2203	4300	6503	SO:0001819	synonymous_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7008C>T	5.37:g.37051934C>T			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																				0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		T	37051934	C	T	37051934	2	4	112	1	0	0	0	0	0	0	0	1	10430	477	17	2		2	NIPBL	5	37051934	Silent	SNP	C	TCGA-AK-3461-01A-02D-1361-10	22449615	37051934	143863326	20	6975											
DNAH8	1769	hgsc.bcm.edu;ucsc.edu	37	6	38997960	38997960	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr6:38997960C>T	ENST00000359357.3	+	91	13519	c.13265C>T	c.(13264-13266)cCc>cTc	p.P4422L	DNAH8_ENST00000441566.1_Missense_Mutation_p.P4386L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4422					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAATCCACCCCCAAGGTACTC	0.502											OREG0017409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													135	129	131					6																	38997960		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13265C>T	6.37:g.38997960C>T	ENSP00000352312:p.Pro4422Leu	882	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	C	31	5.077772	0.94000	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.07444	3.19;3.19;3.19	5.56	5.56	0.83823	Dynein heavy chain (1);	0.065832	0.64402	D	0.000009	T	0.21022	0.0506	M	0.80422	2.495	0.80722	D	1	D	0.60575	0.988	P	0.62560	0.904	T	0.01149	-1.1436	10	0.30854	T	0.27	.	19.5354	0.95251	0.0:1.0:0.0:0.0	.	4422	Q96JB1	DYH8_HUMAN	L	4627;4422;4386	ENSP00000333363:P4627L;ENSP00000352312:P4422L;ENSP00000402294:P4386L	ENSP00000333363:P4627L	P	+	2	0	DNAH8	39105938	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.594000	0.61041	2.635000	0.89317	0.650000	0.86243	CCC		0.502	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38997960	C	T	38997960	3	4	112	1	0	0	0	0	1	0	0	0	4609	623	22	2	13619	2	DNAH8	6	38997960	Missense_Mutation	SNP	C	TCGA-AK-3461-01A-02D-1361-10		38997960	132117107	21	6976											
DPY19L1	23333	hgsc.bcm.edu	37	7	35057542	35057542	+	Missense_Mutation	SNP	A	A	C	rs530132538		TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr7:35057542A>C	ENST00000310974.4	-	3	288	c.144T>G	c.(142-144)ttT>ttG	p.F48L		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	48						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AGAGGTGAGAAAAATGACGGT	0.318																																																0													79	79	79					7																	35057542		1959	4198	6157	SO:0001583	missense	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.144T>G	7.37:g.35057542A>C	ENSP00000308695:p.Phe48Leu		O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.642796	0.87859	.	.	ENSG00000173852	ENST00000310974	T	0.56275	0.47	5.17	3.97	0.46021	.	0.000000	0.85682	U	0.000000	T	0.72606	0.3481	M	0.86028	2.79	0.53005	D	0.999963	D	0.63046	0.992	D	0.76071	0.987	T	0.75010	-0.3468	10	0.66056	D	0.02	-17.0684	10.6925	0.45879	0.923:0.0:0.077:0.0	.	48	Q2PZI1	D19L1_HUMAN	L	48	ENSP00000308695:F48L	ENSP00000308695:F48L	F	-	3	2	DPY19L1	35024067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.744000	0.62118	0.874000	0.35823	0.477000	0.44152	TTT		0.318	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			C	35057542	A	C	35057542	3	2	112	1	0	0	0	0	1	0	0	0	4742	11	1	5	1963	5	DPY19L1	7	35057542	Missense_Mutation	SNP	A	TCGA-AK-3461-01A-02D-1361-10		35057542	124081121	22	6977											
GUSB	2990	hgsc.bcm.edu;ucsc.edu	37	7	65441161	65441161	+	Silent	SNP	C	C	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr7:65441161C>T	ENST00000304895.4	-	5	883	c.753G>A	c.(751-753)aaG>aaA	p.K251K	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Silent_p.K251K	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	251					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GGTTACTGCCCTTGACAGAGA	0.542																																																0													63	53	56					7																	65441161		2203	4300	6503	SO:0001819	synonymous_variant	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.753G>A	7.37:g.65441161C>T			B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	ENST00000304895.4	37	CCDS5530.1																																																																																				0.542	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		T	65441161	C	T	65441161	2	4	112	1	0	0	0	0	0	0	0	1	6904	680	24	2		2	GUSB	7	65441161	Silent	SNP	C	TCGA-AK-3461-01A-02D-1361-10	30383619	65441161	93697502	23	6978											
COPS6	10980	hgsc.bcm.edu;ucsc.edu	37	7	99689085	99689086	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr7:99689085_99689086delCT	ENST00000303904.3	+	9	822_823	c.785_786delCT	c.(784-786)gctfs	p.A262fs	MIR93_ENST00000385024.1_RNA|MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Frame_Shift_Del_p.A261fs	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	262	Interaction with Vpr.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.A262G(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAGGCCTATGCTCTGTGTCACT	0.505																																																1	Substitution - Missense(1)	endometrium(1)																																								SO:0001589	frameshift_variant	10980			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.785_786delCT	7.37:g.99689087_99689088delCT	ENSP00000304102:p.Ala262fs		A4D2A3|O15387	Frame_Shift_Del	DEL	ENST00000303904.3	37	CCDS5682.1																																																																																				0.505	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		-	99689086	CT	-	99689085	7	5	112	1	0	1	0	1	0	0	0	0	3739	797	28	0	819	0	COPS6	7	99689085	Frame_Shift_Del	DEL	CT	TCGA-AK-3461-01A-02D-1361-10	34247924	99689085	59449578	24	6979											
CNOT4	4850	hgsc.bcm.edu;ucsc.edu	37	7	135095315	135095315	+	Silent	SNP	A	A	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr7:135095315A>T	ENST00000315544.5	-	7	1050	c.771T>A	c.(769-771)ggT>ggA	p.G257G	CNOT4_ENST00000451834.1_Silent_p.G257G|CNOT4_ENST00000423368.2_Silent_p.G257G|CNOT4_ENST00000541284.1_Silent_p.G257G|CNOT4_ENST00000361528.4_Silent_p.G257G|CNOT4_ENST00000356162.4_Silent_p.G257G|CNOT4_ENST00000428680.2_Silent_p.G257G|CNOT4_ENST00000414802.1_Silent_p.G257G	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	257					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TATCAACTGAACCCGTAGATA	0.338																																					Ovarian(51;766 1130 5502 35047 50875)											0													125	122	123					7																	135095315		1830	4079	5909	SO:0001819	synonymous_variant	4850			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.771T>A	7.37:g.135095315A>T			B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	CCDS55166.1																																																																																				0.338	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		T	135095315	A	T	135095315	2	4	112	1	0	0	0	0	0	0	0	1	3623	30	2	5		5	CNOT4	7	135095315	Silent	SNP	A	TCGA-AK-3461-01A-02D-1361-10	35406230	135095315	24043348	25	6980											
SSPO	23145	hgsc.bcm.edu;ucsc.edu	37	7	149502986	149502986	+	RNA	SNP	A	A	G			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr7:149502986A>G	ENST00000378016.2	+	0	8490							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCAGTGCCAAGCATCTGGG	0.622																																																0													42	47	45					7																	149502986		2144	4254	6398			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149502986A>G			Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																					0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149502986	A	G	149502986	1	3	112	0	1	0	0	0	0	0	0	0	15194	117	5	3		3	SSPO	7	149502986	RNA	SNP	A	TCGA-AK-3461-01A-02D-1361-10	14407671	149502986	9635677	26	6981											
AGPAT5	55326	hgsc.bcm.edu	37	8	6588326	6588326	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr8:6588326G>T	ENST00000285518.6	+	3	696	c.384G>T	c.(382-384)ttG>ttT	p.L128F		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	128					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		GGCTGCCATTGTATGGGTGTT	0.398																																																0													264	228	241					8																	6588326		2203	4300	6503	SO:0001583	missense	55326			AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20886	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, epsilon"	614796	"1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.384G>T	8.37:g.6588326G>T	ENSP00000285518:p.Leu128Phe		Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457468	0.43634	.	.	ENSG00000155189	ENST00000285518	D	0.94000	-3.33	5.82	1.92	0.25849	Phospholipid/glycerol acyltransferase (2);	0.000000	0.64402	D	0.000001	D	0.91586	0.7342	L	0.41079	1.255	0.58432	D	0.999992	P	0.43633	0.813	P	0.54664	0.758	D	0.86897	0.2052	10	0.36615	T	0.2	0.1614	5.6271	0.17488	0.2206:0.2674:0.512:0.0	.	128	Q9NUQ2	PLCE_HUMAN	F	128	ENSP00000285518:L128F	ENSP00000285518:L128F	L	+	3	2	AGPAT5	6575734	1.000000	0.71417	0.887000	0.34795	0.222000	0.24845	0.888000	0.28268	0.357000	0.24183	0.557000	0.71058	TTG		0.398	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		T	6588326	G	T	6588326	3	4	112	1	0	0	0	0	1	0	0	0	390	1368	48	4	394	4	AGPAT5	8	6588326	Missense_Mutation	SNP	G	TCGA-AK-3461-01A-02D-1361-10		6588326	139775696	27	6982											
ZFYVE27	118813	hgsc.bcm.edu	37	10	99510142	99510142	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr10:99510142A>T	ENST00000393677.4	+	7	923	c.719A>T	c.(718-720)gAg>gTg	p.E240V	ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E240V|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E208V|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E240V|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.E122V|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E154V|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.E142V|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E240V	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	240					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)	p.E240G(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		AAGCAGGAAGAGCATGCCTTT	0.552																																																1	Substitution - Missense(1)	ovary(1)											129	101	111					10																	99510142		2203	4300	6503	SO:0001583	missense	118813			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.719A>T	10.37:g.99510142A>T	ENSP00000377282:p.Glu240Val		B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.330204	0.41297	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T;T	0.52057	0.73;0.68;1.3;1.29;1.29;1.24;1.26	5.51	1.76	0.24704	.	0.718423	0.14760	N	0.300038	T	0.28699	0.0711	N	0.24115	0.695	0.20074	N	0.999935	B;B;B;B;B;B;B	0.11235	0.0;0.0;0.003;0.004;0.0;0.0;0.0	B;B;B;B;B;B;B	0.11329	0.002;0.002;0.004;0.006;0.001;0.005;0.0	T	0.12967	-1.0527	10	0.35671	T	0.21	-2.8834	5.0708	0.14606	0.6986:0.0:0.1626:0.1388	.	208;142;122;154;240;240;240	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	V	208;154;122;142;240;240;240;240;218	ENSP00000337993:E208V;ENSP00000359642:E142V;ENSP00000377282:E240V;ENSP00000401580:E240V;ENSP00000353069:E240V;ENSP00000348593:E240V;ENSP00000409594:E218V	ENSP00000337993:E208V	E	+	2	0	ZFYVE27	99500132	0.987000	0.35691	0.736000	0.30914	0.862000	0.49288	2.260000	0.43267	0.935000	0.37341	0.459000	0.35465	GAG		0.552	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		T	99510142	A	T	99510142	3	4	112	1	0	0	0	0	1	0	0	0	17674	304	11	5	741	5	ZFYVE27	10	99510142	Missense_Mutation	SNP	A	TCGA-AK-3461-01A-02D-1361-10		99510142	36024605	28	6983											
BTRC	8945	hgsc.bcm.edu	37	10	103294568	103294568	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr10:103294568T>G	ENST00000370187.3	+	10	1366	c.1248T>G	c.(1246-1248)atT>atG	p.I416M	BTRC_ENST00000393441.4_Missense_Mutation_p.I375M|BTRC_ENST00000408038.2_Missense_Mutation_p.I380M	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	416					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I416M(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CAACTGACATTACCCTCCGGA	0.483																																																1	Substitution - Missense(1)	large_intestine(1)											254	218	230					10																	103294568		2203	4300	6503	SO:0001583	missense	8945			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1248T>G	10.37:g.103294568T>G	ENSP00000359206:p.Ile416Met		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089199	0.76756	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.61510	1.15;1.15;0.1	5.69	-7.31	0.01441	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.46678	0.1405	N	0.04880	-0.145	0.58432	D	0.999995	P;P;D	0.69078	0.577;0.699;0.997	P;P;D	0.76071	0.553;0.554;0.987	T	0.63924	-0.6527	10	0.51188	T	0.08	-12.033	11.9141	0.52755	0.0786:0.7796:0.0:0.1418	.	390;380;416	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	M	416;375;380	ENSP00000359206:I416M;ENSP00000377088:I375M;ENSP00000385339:I380M	ENSP00000359206:I416M	I	+	3	3	BTRC	103284558	0.003000	0.15002	0.758000	0.31321	0.991000	0.79684	-1.137000	0.03219	-1.481000	0.01863	-0.250000	0.11733	ATT		0.483	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		G	103294568	T	G	103294568	3	3	112	1	0	0	0	0	1	0	0	0	1571	1742	61	5	1286	5	BTRC	10	103294568	Missense_Mutation	SNP	T	TCGA-AK-3461-01A-02D-1361-10	3784426	103294568	32240179	29	6984											
PCNXL3	399909	hgsc.bcm.edu	37	11	65384727	65384727	+	Silent	SNP	C	C	T	rs12790427	byFrequency	TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr11:65384727C>T	ENST00000355703.3	+	3	887	c.348C>T	c.(346-348)ccC>ccT	p.P116P		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	116						integral component of membrane (GO:0016021)		p.P116P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCAGGGACCCCGGAGTGGAGA	0.542													C|||	1482	0.295927	0.2648	0.4236	5008	,	,		20205	0.4226		0.1968	False		,,,				2504	0.2188															1	Substitution - coding silent(1)	stomach(1)						C		958,3066		117,724,1171	35	38	37		348	-4.4	1	11	dbSNP_121	37	1638,6686		156,1326,2680	no	coding-synonymous	PCNXL3	NM_032223.2		273,2050,3851	TT,TC,CC		19.678,23.8072,21.0236		116/2035	65384727	2596,9752	2012	4162	6174	SO:0001819	synonymous_variant	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.348C>T	11.37:g.65384727C>T			Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																				0.542	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		T	65384727	C	T	65384727	2	4	112	1	0	0	0	0	0	0	0	1	11595	639	23	1		1	PCNXL3	11	65384727	Silent	SNP	C	TCGA-AK-3461-01A-02D-1361-10		65384727	69621789	30	6985											
ALDH3B2	222	hgsc.bcm.edu;ucsc.edu	37	11	67431199	67431199	+	Missense_Mutation	SNP	C	C	T	rs180859869		TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr11:67431199C>T	ENST00000349015.3	-	9	1345	c.907G>A	c.(907-909)Ggc>Agc	p.G303S	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.G303S|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	303					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CCAAAGCTGCCGCTGCTGGTC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19517	0.001		0.0	False		,,,				2504	0.0															0													87	75	79					11																	67431199		2200	4294	6494	SO:0001583	missense	222			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"Aldehyde dehydrogenases"	411	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 8", "acetaldehyde dehydrogenase 8"	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.907G>A	11.37:g.67431199C>T	ENSP00000255084:p.Gly303Ser		Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	CCDS31622.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.0	4.692677	0.88735	.	.	ENSG00000132746	ENST00000530069;ENST00000349015	D;D	0.86627	-2.15;-2.15	3.71	3.71	0.42584	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.061067	0.64402	U	0.000004	D	0.95604	0.8571	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97298	0.9929	10	0.87932	D	0	.	15.6351	0.76946	0.0:1.0:0.0:0.0	.	303	P48448	AL3B2_HUMAN	S	303	ENSP00000431595:G303S;ENSP00000255084:G303S	ENSP00000255084:G303S	G	-	1	0	ALDH3B2	67187775	0.998000	0.40836	0.084000	0.20598	0.034000	0.12701	4.279000	0.58953	2.063000	0.61619	0.561000	0.74099	GGC		0.597	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		T	67431199	C	T	67431199	3	4	112	1	0	0	0	0	1	0	0	0	500	652	23	1	258	1	ALDH3B2	11	67431199	Missense_Mutation	SNP	C	TCGA-AK-3461-01A-02D-1361-10	2046472	67431199	67575317	31	6986											
TMEM45B	120224	hgsc.bcm.edu	37	11	129728512	129728512	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr11:129728512G>A	ENST00000524567.1	+	6	1041	c.760G>A	c.(760-762)Gga>Aga	p.G254R	TMEM45B_ENST00000281441.3_Missense_Mutation_p.G254R			Q96B21	TM45B_HUMAN	transmembrane protein 45B	254						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		AGAAATCATTGGAATTCAGAA	0.478																																																0													57	57	57					11																	129728512		2201	4296	6497	SO:0001583	missense	120224			AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.760G>A	11.37:g.129728512G>A	ENSP00000436293:p.Gly254Arg		A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229428	0.58777	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.31769	1.48;1.48	5.81	5.81	0.92471	.	0.141247	0.64402	D	0.000004	T	0.24736	0.0600	L	0.27053	0.805	0.58432	D	0.999997	P	0.41546	0.754	B	0.36504	0.226	T	0.01824	-1.1266	10	0.39692	T	0.17	-4.6077	18.6464	0.91411	0.0:0.0:1.0:0.0	.	254	Q96B21	TM45B_HUMAN	R	254	ENSP00000281441:G254R;ENSP00000436293:G254R	ENSP00000281441:G254R	G	+	1	0	TMEM45B	129233722	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	4.283000	0.58977	2.746000	0.94184	0.655000	0.94253	GGA		0.478	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		A	129728512	G	A	129728512	3	1	112	1	0	0	0	0	1	0	0	0	16175	1349	47	2	778	2	TMEM45B	11	129728512	Missense_Mutation	SNP	G	TCGA-AK-3461-01A-02D-1361-10	62297313	129728512	5278004	32	6987											
NR2C1	7181	hgsc.bcm.edu	37	12	95445694	95445694	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr12:95445694C>A	ENST00000333003.5	-	8	1139	c.809G>T	c.(808-810)aGt>aTt	p.S270I	NR2C1_ENST00000330677.7_Missense_Mutation_p.S270I|NR2C1_ENST00000393101.3_Missense_Mutation_p.S270I|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	270					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GGCCAATGTACTTAAATCTCC	0.294																																																0													59	60	60					12																	95445694		2203	4300	6503	SO:0001583	missense	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.809G>T	12.37:g.95445694C>A	ENSP00000333275:p.Ser270Ile		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740832	0.69304	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.91843	-2.92;-2.73;-2.72	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (1);	0.166804	0.64402	D	0.000003	D	0.94768	0.8311	M	0.64997	1.995	0.52099	D	0.999944	D;D;P;P	0.60575	0.979;0.988;0.905;0.895	P;P;P;P	0.58331	0.692;0.837;0.603;0.48	D	0.94880	0.8038	10	0.72032	D	0.01	.	19.6128	0.95616	0.0:1.0:0.0:0.0	.	270;270;270;270	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	I	270	ENSP00000333275:S270I;ENSP00000376813:S270I;ENSP00000328843:S270I	ENSP00000328843:S270I	S	-	2	0	NR2C1	93969825	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.315000	0.78998	2.635000	0.89317	0.655000	0.94253	AGT		0.294	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		A	95445694	C	A	95445694	3	1	112	1	0	0	0	0	1	0	0	0	10624	565	20	4	1108	4	NR2C1	12	95445694	Missense_Mutation	SNP	C	TCGA-AK-3461-01A-02D-1361-10		95445694	38406201	33	6988											
GLT8D2	83468	hgsc.bcm.edu	37	12	104387233	104387233	+	Missense_Mutation	SNP	T	T	C	rs145520946	byFrequency	TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr12:104387233T>C	ENST00000360814.4	-	10	1222	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	GLT8D2_ENST00000546436.1_Missense_Mutation_p.M273V|GLT8D2_ENST00000548660.1_Missense_Mutation_p.M273V	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	273						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ACAATCAGCATTGGGGAGGTG	0.453													T|||	4	0.000798722	0.0	0.0029	5008	,	,		17687	0.0		0.002	False		,,,				2504	0.0															0								T	VAL/MET	16,4390	23.3+/-48.9	0,16,2187	58	59	59		817	4.3	1	12	dbSNP_134	59	94,8506	51.5+/-111.7	0,94,4206	yes	missense	GLT8D2	NM_031302.3	21	0,110,6393	CC,CT,TT		1.093,0.3631,0.8458	probably-damaging	273/350	104387233	110,12896	2203	4300	6503	SO:0001583	missense	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.817A>G	12.37:g.104387233T>C	ENSP00000354053:p.Met273Val		Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	CCDS9096.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	T	17.81	3.480617	0.63849	0.003631	0.01093	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.21543	2.0;2.0;2.0	5.44	4.26	0.50523	.	0.034666	0.85682	D	0.000000	T	0.30823	0.0777	L	0.61387	1.9	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	T	0.08351	-1.0726	10	0.16896	T	0.51	.	12.3653	0.55224	0.0:0.0:0.1412:0.8588	.	273	Q9H1C3	GL8D2_HUMAN	V	273	ENSP00000354053:M273V;ENSP00000449750:M273V;ENSP00000447450:M273V	ENSP00000354053:M273V	M	-	1	0	GLT8D2	102911363	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	4.214000	0.58527	0.869000	0.35703	0.533000	0.62120	ATG		0.453	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		C	104387233	T	C	104387233	3	2	112	1	0	0	0	0	1	0	0	0	6472	1493	52	3	240	3	GLT8D2	12	104387233	Missense_Mutation	SNP	T	TCGA-AK-3461-01A-02D-1361-10	8941539	104387233	29464662	34	6989											
TEP1	7011	hgsc.bcm.edu	37	14	20864870	20864870	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr14:20864870G>T	ENST00000262715.5	-	10	1609	c.1569C>A	c.(1567-1569)ttC>ttA	p.F523L	TEP1_ENST00000556935.1_Missense_Mutation_p.F415L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	523	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCATGGCCATGAAGGGAAGCT	0.517																																																0													94	81	85					14																	20864870		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1569C>A	14.37:g.20864870G>T	ENSP00000262715:p.Phe523Leu		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134965	0.77662	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.12672	2.66;2.66	5.59	3.76	0.43208	TROVE (2);	0.215910	0.47852	D	0.000207	T	0.24774	0.0601	M	0.78456	2.415	0.80722	D	1	P;P	0.46859	0.705;0.885	B;P	0.48770	0.359;0.589	T	0.02758	-1.1114	10	0.56958	D	0.05	-14.0963	10.5094	0.44853	0.1592:0.0:0.8408:0.0	.	415;523	G3V5X7;Q99973	.;TEP1_HUMAN	L	523;523;415	ENSP00000262715:F523L;ENSP00000452574:F415L	ENSP00000262715:F523L	F	-	3	2	TEP1	19934710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.541000	0.45735	1.367000	0.46095	0.655000	0.94253	TTC		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20864870	G	T	20864870	3	4	112	1	0	0	0	0	1	0	0	0	15764	1281	45	4	6498	4	TEP1	14	20864870	Missense_Mutation	SNP	G	TCGA-AK-3461-01A-02D-1361-10		20864870	86484670	35	6990											
FANCM	57697	hgsc.bcm.edu	37	14	45658098	45658098	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr14:45658098G>T	ENST00000267430.5	+	20	4958	c.4873G>T	c.(4873-4875)Gtt>Ttt	p.V1625F	FANCM_ENST00000542564.2_Missense_Mutation_p.V1599F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1625					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGAAGTTTGTGTTGATTTTAA	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													84	86	86					14																	45658098		2203	4297	6500	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4873G>T	14.37:g.45658098G>T	ENSP00000267430:p.Val1625Phe		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.40|14.40	2.524603|2.524603	0.44969|0.44969	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	T|T;T;T	0.76968|0.77620	-1.06|-1.11;-1.11;-1.11	5.67|5.67	2.79|2.79	0.32731|0.32731	.|.	.|0.634340	.|0.16681	.|N	.|0.203956	T|T	0.74238|0.74238	0.3690|0.3690	M|M	0.70595|0.70595	2.14|2.14	0.32696|0.32696	N|N	0.513477|0.513477	.|B;B	.|0.21753	.|0.06;0.015	.|B;B	.|0.20384	.|0.029;0.01	T|T	0.76008|0.76008	-0.3116|-0.3116	6|10	.|0.54805	.|T	.|0.06	.|.	9.3837|9.3837	0.38329|0.38329	0.2981:0.0:0.7019:0.0|0.2981:0.0:0.7019:0.0	.|.	.|1599;1625	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	F|F	557|1625;1599;1141	ENSP00000450632:C557F|ENSP00000267430:V1625F;ENSP00000442493:V1599F;ENSP00000452033:V1141F	.|ENSP00000267430:V1625F	C|V	+|+	2|1	0|0	FANCM|FANCM	44727848|44727848	0.984000|0.984000	0.35163|0.35163	0.992000|0.992000	0.48379|0.48379	0.994000|0.994000	0.84299|0.84299	1.503000|1.503000	0.35715|0.35715	0.851000|0.851000	0.35264|0.35264	0.650000|0.650000	0.86243|0.86243	TGT|GTT		0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		T	45658098	G	T	45658098	3	4	112	1	0	0	0	0	1	0	0	0	5673	1377	48	4	4951	4	FANCM	14	45658098	Missense_Mutation	SNP	G	TCGA-AK-3461-01A-02D-1361-10	24793228	45658098	61691442	36	6991											
ONECUT1	3175	hgsc.bcm.edu	37	15	53049880	53049880	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr15:53049880A>T	ENST00000305901.5	-	2	1397	c.1270T>A	c.(1270-1272)Ttg>Atg	p.L424M	ONECUT1_ENST00000560699.2_Silent_p.G64G|ONECUT1_ENST00000561401.2_5'UTR	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	424					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTCAGCTCCAACCCCAGCTGC	0.493																																																0													162	151	155					15																	53049880		2194	4293	6487	SO:0001583	missense	3175			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1270T>A	15.37:g.53049880A>T	ENSP00000302630:p.Leu424Met		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.979276	0.53827	.	.	ENSG00000169856	ENST00000305901	D	0.98296	-4.85	6.16	1.4	0.22301	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	M	0.86178	2.8	0.80722	D	1	P	0.51537	0.946	D	0.77557	0.99	D	0.98237	1.0486	10	0.87932	D	0	-9.1088	8.9906	0.36022	0.6465:0.0:0.3535:0.0	.	424	Q9UBC0	HNF6_HUMAN	M	424	ENSP00000302630:L424M	ENSP00000302630:L424M	L	-	1	2	ONECUT1	50837172	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	2.779000	0.47734	-0.005000	0.14395	-0.263000	0.10527	TTG		0.493	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			T	53049880	A	T	53049880	3	4	112	1	0	0	0	0	1	0	0	0	10870	40	2	5	131	5	ONECUT1	15	53049880	Missense_Mutation	SNP	A	TCGA-AK-3461-01A-02D-1361-10		53049880	49481512	37	6992											
SPG21	51324	hgsc.bcm.edu;ucsc.edu	37	15	65266968	65266968	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr15:65266968T>C	ENST00000204566.2	-	5	719	c.424A>G	c.(424-426)Atc>Gtc	p.I142V	SPG21_ENST00000433215.2_Missense_Mutation_p.I142V|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000416889.2_Missense_Mutation_p.I115V|SPG21_ENST00000560564.1_5'Flank	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	142					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TGGTTGAAGATAGAGGTGTCA	0.378																																																0													113	114	114					15																	65266968		2202	4299	6501	SO:0001583	missense	51324			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"maspardin"	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.424A>G	15.37:g.65266968T>C	ENSP00000204566:p.Ile142Val		B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	T	9.674	1.147489	0.21288	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T;T	0.67345	-0.26;-0.26;-0.26	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	N	0.00996	-1.065	0.80722	D	1	B;B	0.13145	0.007;0.005	B;B	0.15052	0.007;0.012	T	0.38972	-0.9636	10	0.15066	T	0.55	-24.5999	14.8284	0.70130	0.0:0.0:0.0:1.0	.	115;142	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	V	142;115;142	ENSP00000204566:I142V;ENSP00000394846:I115V;ENSP00000404111:I142V	ENSP00000204566:I142V	I	-	1	0	SPG21	63054021	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.898000	0.87363	2.191000	0.70037	0.528000	0.53228	ATC		0.378	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		C	65266968	T	C	65266968	3	2	112	1	0	0	0	0	1	0	0	0	15048	1406	49	3	522	3	SPG21	15	65266968	Missense_Mutation	SNP	T	TCGA-AK-3461-01A-02D-1361-10	12217088	65266968	37264424	38	6993											
SIN3A	25942	hgsc.bcm.edu	37	15	75702579	75702579	+	Silent	SNP	A	A	G			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr15:75702579A>G	ENST00000394947.3	-	7	1371	c.1057T>C	c.(1057-1059)Ttg>Ctg	p.L353L	SIN3A_ENST00000360439.4_Silent_p.L353L|SIN3A_ENST00000394949.4_Silent_p.L353L	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGCTCTGTCAATGCTGGAGTG	0.448																																																0													106	102	103					15																	75702579		2197	4294	6491	SO:0001819	synonymous_variant	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1057T>C	15.37:g.75702579A>G				Silent	SNP	ENST00000394947.3	37	CCDS10279.1																																																																																				0.448	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		G	75702579	A	G	75702579	2	3	112	1	0	0	0	0	0	0	0	1	14331	98	4	3		3	SIN3A	15	75702579	Silent	SNP	A	TCGA-AK-3461-01A-02D-1361-10	10435611	75702579	26828813	39	6994											
OTOA	146183	hgsc.bcm.edu	37	16	21712268	21712268	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr16:21712268C>G	ENST00000286149.4	+	10	901	c.900C>G	c.(898-900)atC>atG	p.I300M	OTOA_ENST00000388958.3_Missense_Mutation_p.I300M|OTOA_ENST00000388956.4_Missense_Mutation_p.I221M			Q7RTW8	OTOAN_HUMAN	otoancorin	300					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCTATGACATCACACCTGAGC	0.527																																																0													104	87	93					16																	21712268		2199	4300	6499	SO:0001583	missense	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.900C>G	16.37:g.21712268C>G	ENSP00000286149:p.Ile300Met		A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	C	14.87	2.663632	0.47572	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.80994	-1.44;-1.44;-1.44	5.41	4.45	0.53987	.	0.197912	0.43919	D	0.000510	D	0.84129	0.5404	M	0.64997	1.995	0.80722	D	1	D;P	0.58970	0.984;0.943	P;P	0.58454	0.839;0.839	D	0.83724	0.0194	10	0.48119	T	0.1	-9.3735	9.4324	0.38617	0.1624:0.6808:0.1567:0.0	.	221;300	B3KWU3;E9PF51	.;.	M	300;300;221	ENSP00000373610:I300M;ENSP00000286149:I300M;ENSP00000373608:I221M	ENSP00000286149:I300M	I	+	3	3	OTOA	21619769	1.000000	0.71417	0.997000	0.53966	0.682000	0.39822	1.177000	0.31969	1.387000	0.46486	0.650000	0.86243	ATC		0.527	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			G	21712268	C	G	21712268	3	3	112	1	0	0	0	0	1	0	0	0	11304	816	29	4	972	4	OTOA	16	21712268	Missense_Mutation	SNP	C	TCGA-AK-3461-01A-02D-1361-10		21712268	68642485	40	6995											
CSNK2A2	1459	hgsc.bcm.edu;ucsc.edu	37	16	58220677	58220677	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr16:58220677G>C	ENST00000262506.3	-	3	483	c.300C>G	c.(298-300)gaC>gaG	p.D100E	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						CCTTTACAGTGTCAATCAGCT	0.433																																					Melanoma(54;119 1219 18349 35700 39738)											0													158	145	149					16																	58220677		2198	4300	6498	SO:0001583	missense	1459			M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.300C>G	16.37:g.58220677G>C	ENSP00000262506:p.Asp100Glu			Missense_Mutation	SNP	ENST00000262506.3	37	CCDS10794.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214070	0.79352	.	.	ENSG00000070770	ENST00000262506	T	0.07688	3.17	6.01	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	L	0.50333	1.59	0.80722	D	1	P	0.40553	0.721	P	0.57204	0.815	T	0.00348	-1.1799	10	0.72032	D	0.01	-3.9358	14.329	0.66541	0.0704:0.0:0.9296:0.0	.	100	P19784	CSK22_HUMAN	E	100	ENSP00000262506:D100E	ENSP00000262506:D100E	D	-	3	2	CSNK2A2	56778178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.202000	0.58446	1.565000	0.49641	0.650000	0.86243	GAC		0.433	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896		C	58220677	G	C	58220677	3	2	112	1	0	0	0	0	1	0	0	0	3960	1368	48	4	788	4	CSNK2A2	16	58220677	Missense_Mutation	SNP	G	TCGA-AK-3461-01A-02D-1361-10	36508409	58220677	32134076	41	6996											
USP10	9100	hgsc.bcm.edu	37	16	84773939	84773939	+	Missense_Mutation	SNP	C	C	G	rs202025437		TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr16:84773939C>G	ENST00000219473.7	+	3	228	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	USP10_ENST00000570191.1_Missense_Mutation_p.L43V|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	39	Interaction with p53/TP53.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TGGAACAGTTCTGTGTGGCAC	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20831	0.0		0.0	False		,,,				2504	0.0															0													148	142	144					16																	84773939		1904	4129	6033	SO:0001583	missense	9100			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.115C>G	16.37:g.84773939C>G	ENSP00000219473:p.Leu39Val		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	CCDS45537.1	150	0.06868131868131869	50	0.1016260162601626	15	0.04143646408839779	36	0.06293706293706294	49	0.06464379947229551	C	10.85	1.467863	0.26335	.	.	ENSG00000103194	ENST00000219473	T	0.06849	3.25	5.54	3.33	0.38152	.	0.935443	0.08386	U	0.953665	T	0.00241	0.0007	L	0.43152	1.355	0.24015	N	0.996163	B;B	0.24368	0.102;0.062	B;B	0.23852	0.049;0.022	T	0.42766	-0.9432	10	0.33940	T	0.23	-6.7854	5.3595	0.16079	0.0:0.6505:0.0:0.3495	.	43;39	Q14694-3;Q14694	.;UBP10_HUMAN	V	39	ENSP00000219473:L39V	ENSP00000219473:L39V	L	+	1	2	USP10	83331440	0.187000	0.23238	0.913000	0.36048	0.940000	0.58332	0.177000	0.16801	0.702000	0.31825	0.655000	0.94253	CTG		0.428	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			G	84773939	C	G	84773939	3	3	112	1	0	0	0	0	1	0	0	0	17046	912	32	4	125	4	USP10	16	84773939	Missense_Mutation	SNP	C	TCGA-AK-3461-01A-02D-1361-10	26553262	84773939	5580814	42	6997											
UBTF	7343	hgsc.bcm.edu	37	17	42286826	42286826	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr17:42286826A>G	ENST00000302904.4	-	17	2291	c.1799T>C	c.(1798-1800)aTc>aCc	p.I600T	UBTF_ENST00000533177.1_Missense_Mutation_p.I563T|UBTF_ENST00000343638.5_Missense_Mutation_p.I563T|UBTF_ENST00000393606.3_Missense_Mutation_p.I563T|UBTF_ENST00000527034.1_Missense_Mutation_p.I563T|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.I563T|UBTF_ENST00000529383.1_Missense_Mutation_p.I600T|UBTF_ENST00000436088.1_Missense_Mutation_p.I600T			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	600					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCGACTGCCGATCTCCACCAT	0.597																																																0													64	56	59					17																	42286826		2203	4300	6503	SO:0001583	missense	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1799T>C	17.37:g.42286826A>G	ENSP00000302640:p.Ile600Thr		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.265116	0.59431	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.16	5.16	0.70880	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.49126	1.545	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.983;0.999	T	0.66701	-0.5857	10	0.87932	D	0	-13.4499	14.6919	0.69093	1.0:0.0:0.0:0.0	.	563;563;600	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	T	563;600;563;563;600;563;563;600;187	ENSP00000345297:I563T;ENSP00000302640:I600T;ENSP00000431539:I563T;ENSP00000437180:I563T;ENSP00000390669:I600T;ENSP00000377231:I563T;ENSP00000432925:I563T;ENSP00000435708:I600T;ENSP00000431295:I187T	ENSP00000302640:I600T	I	-	2	0	UBTF	39642352	1.000000	0.71417	0.932000	0.37286	0.238000	0.25445	7.248000	0.78268	1.952000	0.56665	0.379000	0.24179	ATC		0.597	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		G	42286826	A	G	42286826	3	3	112	1	0	0	0	0	1	0	0	0	16914	333	12	3	515	3	UBTF	17	42286826	Missense_Mutation	SNP	A	TCGA-AK-3461-01A-02D-1361-10		42286826	38908384	43	6998											
PPP1R9B	84687	hgsc.bcm.edu	37	17	48226734	48226734	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr17:48226734G>T	ENST00000316878.6	-	3	1141	c.1139C>A	c.(1138-1140)tCc>tAc	p.S380Y	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	380					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CTCCTTCTTGGATTCATCTAC	0.692																																																0													29	33	32					17																	48226734		1943	4118	6061	SO:0001583	missense	84687			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9298	protein-coding gene	gene with protein product	"spinophilin", "Neurabin-2"	603325	"protein phosphatase 1, regulatory subunit 9B, spinophilin", "protein phosphatase 1, regulatory (inhibitor) subunit 9B"	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1139C>A	17.37:g.48226734G>T	ENSP00000475417:p.Ser380Tyr		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37																																																																																					0.692	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		T	48226734	G	T	48226734	3	4	112	1	0	0	0	0	1	0	0	0	12384	1174	41	4	1348	4	PPP1R9B	17	48226734	Missense_Mutation	SNP	G	TCGA-AK-3461-01A-02D-1361-10	5939908	48226734	32968476	44	6999											
ABCC3	8714	hgsc.bcm.edu	37	17	48735824	48735824	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr17:48735824T>C	ENST00000285238.8	+	6	721	c.641T>C	c.(640-642)tTt>tCt	p.F214S	ABCC3_ENST00000427699.1_Missense_Mutation_p.F214S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	214					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AGCGCTGGCTTTCTCTCCCGC	0.572																																																0													135	123	127					17																	48735824		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.641T>C	17.37:g.48735824T>C	ENSP00000285238:p.Phe214Ser		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	T	32	5.117683	0.94385	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.92965	-3.14;-3.14	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.97012	0.9024	M	0.93016	3.37	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.991	D	0.97875	1.0288	10	0.87932	D	0	-34.2511	16.0249	0.80536	0.0:0.0:0.0:1.0	.	214;214	O15438;O15438-5	MRP3_HUMAN;.	S	214	ENSP00000395160:F214S;ENSP00000285238:F214S	ENSP00000285238:F214S	F	+	2	0	ABCC3	46090823	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.575000	0.82447	2.270000	0.75569	0.459000	0.35465	TTT		0.572	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		C	48735824	T	C	48735824	3	2	112	1	0	0	0	0	1	0	0	0	54	1841	64	3	663	3	ABCC3	17	48735824	Missense_Mutation	SNP	T	TCGA-AK-3461-01A-02D-1361-10	509090	48735824	32459386	45	7000											
TGIF1	7050	hgsc.bcm.edu	37	18	3447755	3447755	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr18:3447755A>C	ENST00000548489.2	+	1	149	c.18A>C	c.(16-18)aaA>aaC	p.K6N	TGIF1_ENST00000577543.1_5'Flank|TGIF1_ENST00000405385.3_5'Flank|TGIF1_ENST00000551402.1_5'Flank|TGIF1_ENST00000407501.2_5'Flank|TGIF1_ENST00000343820.5_5'Flank|TGIF1_ENST00000401449.1_Intron	NM_173207.1	NP_775299.1	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	0					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCTCGGGCAAAAGTTGTGCAT	0.483																																																0													132	123	126					18																	3447755		2203	4300	6503	SO:0001583	missense	7050			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000548489.2:c.18A>C	18.37:g.3447755A>C	ENSP00000447747:p.Lys6Asn		A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000548489.2	37	CCDS11832.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081520	0.36758	.	.	ENSG00000177426	ENST00000548489	T	0.53640	0.61	4.77	0.811	0.18739	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.19575	N	0.999965	B	0.15473	0.013	B	0.14023	0.01	T	0.20907	-1.0261	8	0.18710	T	0.47	.	3.3369	0.07105	0.6403:0.0:0.1902:0.1696	.	6	F8VZB6	.	N	6	ENSP00000447747:K6N	ENSP00000447747:K6N	K	+	3	2	TGIF1	3437755	0.000000	0.05858	0.003000	0.11579	0.038000	0.13279	0.323000	0.19593	0.052000	0.16007	0.329000	0.21502	AAA		0.483	TGIF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254366.4	NM_170695		C	3447755	A	C	3447755	3	2	112	1	0	0	0	0	1	0	0	0	15830	11	1	5	20	5	TGIF1	18	3447755	Missense_Mutation	SNP	A	TCGA-AK-3461-01A-02D-1361-10		3447755	74629493	46	7001											
SH3GL1	6455	hgsc.bcm.edu	37	19	4363420	4363420	+	Silent	SNP	G	G	A			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr19:4363420G>A	ENST00000269886.3	-	7	853	c.675C>T	c.(673-675)taC>taT	p.Y225Y	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Silent_p.Y161Y|SH3GL1_ENST00000417295.2_Silent_p.Y177Y	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	225	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with ARC. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCTGCCGGTGGTAGTCCAGCT	0.657			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													33	26	28					19																	4363420		2202	4299	6501	SO:0001819	synonymous_variant	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.675C>T	19.37:g.4363420G>A			B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	37	CCDS32874.1																																																																																				0.657	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		A	4363420	G	A	4363420	2	1	112	1	0	0	0	0	0	0	0	1	14256	1256	44	2		2	SH3GL1	19	4363420	Silent	SNP	G	TCGA-AK-3461-01A-02D-1361-10		4363420	54765563	47	7002											
ATP1A3	478	hgsc.bcm.edu;ucsc.edu	37	19	42473672	42473672	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr19:42473672A>G	ENST00000302102.5	-	19	2753	c.2603T>C	c.(2602-2604)tTc>tCc	p.F868S	ATP1A3_ENST00000545399.1_Missense_Mutation_p.F881S|ATP1A3_ENST00000602133.1_Missense_Mutation_p.F838S|ATP1A3_ENST00000543770.1_Missense_Mutation_p.F879S	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	868					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCGGGCAAGAAGCCATTTTC	0.572																																																0													101	98	99					19																	42473672		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2603T>C	19.37:g.42473672A>G	ENSP00000302397:p.Phe868Ser		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095684	0.76870	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	3.92	3.92	0.45320	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	H	0.98629	4.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	D	0.96723	0.9534	10	0.87932	D	0	.	11.063	0.47959	1.0:0.0:0.0:0.0	.	881;879;868;868	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	S	868;868;881;838;612;879	ENSP00000302397:F868S;ENSP00000411503:F868S;ENSP00000444688:F881S;ENSP00000437577:F879S	ENSP00000302397:F868S	F	-	2	0	ATP1A3	47165512	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.139000	0.94554	1.797000	0.52628	0.379000	0.24179	TTC		0.572	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		G	42473672	A	G	42473672	3	3	112	1	0	0	0	0	1	0	0	0	1130	246	9	3	458	3	ATP1A3	19	42473672	Missense_Mutation	SNP	A	TCGA-AK-3461-01A-02D-1361-10	38110252	42473672	16655311	48	7003											
BCAM	4059	hgsc.bcm.edu	37	19	45322915	45322915	+	Silent	SNP	T	T	A			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr19:45322915T>A	ENST00000270233.6	+	13	1717	c.1695T>A	c.(1693-1695)gtT>gtA	p.V565V	BCAM_ENST00000589651.1_Silent_p.V565V	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	565					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCCTCGTCGTTGCTGTCTTCT	0.667																																																0													42	40	40					19																	45322915		2202	4296	6498	SO:0001819	synonymous_variant	4059			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1695T>A	19.37:g.45322915T>A			A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	ENST00000270233.6	37	CCDS12644.1																																																																																				0.667	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		A	45322915	T	A	45322915	2	1	112	1	0	0	0	0	0	0	0	1	1344	1799	63	5		5	BCAM	19	45322915	Silent	SNP	T	TCGA-AK-3461-01A-02D-1361-10	2849243	45322915	13806068	49	7004											
HIF3A	64344	hgsc.bcm.edu	37	19	46828841	46828841	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr19:46828841T>A	ENST00000377670.4	+	11	1416	c.1385T>A	c.(1384-1386)cTc>cAc	p.L462H	HIF3A_ENST00000420102.2_Missense_Mutation_p.L411H|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.L393H|HIF3A_ENST00000472815.1_Missense_Mutation_p.L393H|HIF3A_ENST00000300862.3_Missense_Mutation_p.L460H|HIF3A_ENST00000600383.1_Missense_Mutation_p.L393H|HIF3A_ENST00000339613.2_Missense_Mutation_p.L406H	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	462	NTAD.|ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GTGCACAGACTCTTCACCTCC	0.512																																																0													158	156	157					19																	46828841		2203	4300	6503	SO:0001583	missense	64344			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1385T>A	19.37:g.46828841T>A	ENSP00000366898:p.Leu462His		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682713	0.47991	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.78481	-0.36;-1.16;-0.49;-0.36;-1.18	4.47	2.36	0.29203	.	1.222120	0.06194	N	0.681989	T	0.76147	0.3947	L	0.27053	0.805	0.09310	N	1	D;P;D;P;D;P;P	0.67145	0.996;0.947;0.969;0.947;0.979;0.948;0.947	P;B;P;B;B;B;B	0.56216	0.794;0.322;0.614;0.439;0.41;0.41;0.237	T	0.61860	-0.6976	10	0.62326	D	0.03	.	6.2081	0.20613	0.0:0.2133:0.0:0.7867	.	411;393;460;411;406;462;462	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;.;HIF3A_HUMAN;.	H	462;462;393;406;406;460;411	ENSP00000366898:L462H;ENSP00000244303:L393H;ENSP00000341877:L406H;ENSP00000300862:L460H;ENSP00000407771:L411H	ENSP00000244302:L462H	L	+	2	0	HIF3A	51520681	0.012000	0.17670	0.033000	0.17914	0.243000	0.25628	0.936000	0.28938	0.322000	0.23283	0.528000	0.53228	CTC		0.512	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			A	46828841	T	A	46828841	3	1	112	1	0	0	0	0	1	0	0	0	7107	1551	54	5	1451	5	HIF3A	19	46828841	Missense_Mutation	SNP	T	TCGA-AK-3461-01A-02D-1361-10	1505926	46828841	12300142	50	7005											
CARD8	22900	hgsc.bcm.edu	37	19	48715114	48715114	+	Silent	SNP	C	C	A			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr19:48715114C>A	ENST00000359009.4	-	10	1461	c.1149G>T	c.(1147-1149)gtG>gtT	p.V383V	CARD8_ENST00000521613.1_Silent_p.V439V|CARD8_ENST00000519940.1_Silent_p.V489V|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_Intron|CARD8_ENST00000520753.1_3'UTR|CARD8_ENST00000520153.1_Silent_p.V439V|CARD8_ENST00000520015.1_3'UTR|CARD8_ENST00000391898.3_Silent_p.V489V|CTC-453G23.8_ENST00000595201.1_RNA|CARD8_ENST00000447740.2_Silent_p.V439V			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	383	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TTTCCTGCTCCACCAGCTCCT	0.542																																																0													260	244	249					19																	48715114		2203	4300	6503	SO:0001819	synonymous_variant	22900			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.1149G>T	19.37:g.48715114C>A			B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Silent	SNP	ENST00000359009.4	37																																																																																					0.542	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		A	48715114	C	A	48715114	2	1	112	1	0	0	0	0	0	0	0	1	2653	581	21	4		4	CARD8	19	48715114	Silent	SNP	C	TCGA-AK-3461-01A-02D-1361-10	1886273	48715114	10413869	51	7006											
ZNFX1	57169	hgsc.bcm.edu	37	20	47886860	47886860	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr20:47886860C>T	ENST00000396105.1	-	3	1735	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I	ZNFX1_ENST00000371752.1_Missense_Mutation_p.V497I|ZNFX1_ENST00000371754.4_Missense_Mutation_p.V497I	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	497							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGGGCTGGACCTCTGCTAGC	0.517																																																0													79	76	77					20																	47886860		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1489G>A	20.37:g.47886860C>T	ENSP00000379412:p.Val497Ile		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	4.756	0.140522	0.09083	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;T	0.86097	-1.74;-2.07;-2.07;-0.65;-1.38	5.85	3.92	0.45320	.	0.326118	0.33419	N	0.004927	T	0.69333	0.3099	N	0.13140	0.3	0.30941	N	0.725832	B	0.10296	0.003	B	0.09377	0.004	T	0.61426	-0.7065	10	0.16896	T	0.51	-16.7721	8.4611	0.32927	0.0:0.7666:0.0:0.2334	.	497	Q9P2E3	ZNFX1_HUMAN	I	497;497;497;497;497;301	ENSP00000360819:V497I;ENSP00000360817:V497I;ENSP00000379412:V497I;ENSP00000360809:V497I;ENSP00000413800:V301I	ENSP00000360809:V497I	V	-	1	0	ZNFX1	47320267	0.097000	0.21791	0.908000	0.35775	0.919000	0.55068	0.571000	0.23669	1.480000	0.48289	0.655000	0.94253	GTC		0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		T	47886860	C	T	47886860	3	4	112	1	0	0	0	0	1	0	0	0	18210	507	18	2	4315	2	ZNFX1	20	47886860	Missense_Mutation	SNP	C	TCGA-AK-3461-01A-02D-1361-10		47886860	15138660	52	7007											
MICAL3	57553	hgsc.bcm.edu	37	22	18304890	18304890	+	Silent	SNP	A	A	G			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr22:18304890A>G	ENST00000441493.2	-	24	3706	c.3354T>C	c.(3352-3354)cgT>cgC	p.R1118R		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1118	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCACGGCAAACGCAGCTCTC	0.617																																																0													70	77	74					22																	18304890		2137	4235	6372	SO:0001819	synonymous_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3354T>C	22.37:g.18304890A>G			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	A	4.695	0.129204	0.08981	.	.	ENSG00000093100	ENST00000252134	.	.	.	3.91	-1.58	0.08479	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	.	1.1819	0.01846	0.2343:0.1692:0.425:0.1716	.	.	.	.	A	100	.	.	V	-	2	0	XXbac-B461K10.4	16684890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.027000	0.12371	-0.066000	0.12998	-0.375000	0.07067	GTT		0.617	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			G	18304890	A	G	18304890	2	3	112	1	0	0	0	0	0	0	0	1	9573	30	2	3		3	MICAL3	22	18304890	Silent	SNP	A	TCGA-AK-3461-01A-02D-1361-10		18304890	32999676	53	7008											
GTSE1	51512	hgsc.bcm.edu	37	22	46719127	46719127	+	Silent	SNP	A	A	G			TCGA-AK-3461-01A-02D-1361-10	TCGA-AK-3461-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d173f94f-7c73-4d87-a536-9bb8fea88017	1db1d58a-85dc-4471-9c76-9e5d6d46aba7	g.chr22:46719127A>G	ENST00000454366.1	+	8	1685	c.1473A>G	c.(1471-1473)gcA>gcG	p.A491A		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	472					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TTTCGCGGGCACAGCGGCCGC	0.547																																					GBM(153;542 1915 12487 29016 50495)											0													155	150	152					22																	46719127		2203	4300	6503	SO:0001819	synonymous_variant	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1473A>G	22.37:g.46719127A>G			B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	ENST00000454366.1	37	CCDS14074.2																																																																																				0.547	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		G	46719127	A	G	46719127	2	3	112	1	0	0	0	0	0	0	0	1	6887	146	6	3		3	GTSE1	22	46719127	Silent	SNP	A	TCGA-AK-3461-01A-02D-1361-10	28414237	46719127	4585439	54	7009											
CAMTA1	23261	broad.mit.edu	37	1	7797351	7797351	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:7797351G>A	ENST00000303635.7	+	15	3586	c.3379G>A	c.(3379-3381)Gtc>Atc	p.V1127I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V1127I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGAAGCTGCCGTCGTGCTGTA	0.557			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													101	104	103					1																	7797351		2203	4300	6503	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3379G>A	1.37:g.7797351G>A	ENSP00000306522:p.Val1127Ile		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136969	0.56936	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.33438	1.41;1.41	5.91	4.99	0.66335	Ankyrin repeat-containing domain (3);	0.058965	0.64402	D	0.000003	T	0.20333	0.0489	N	0.19112	0.55	0.53005	D	0.99996	B;B;B;B	0.28850	0.094;0.095;0.225;0.046	B;B;B;B	0.19666	0.026;0.012;0.026;0.011	T	0.03587	-1.1022	10	0.33940	T	0.23	-20.0504	15.3596	0.74460	0.0673:0.0:0.9327:0.0	.	1127;214;83;1127	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	I	1127;1127;214;83	ENSP00000306522:V1127I;ENSP00000402561:V1127I	ENSP00000306522:V1127I	V	+	1	0	CAMTA1	7719938	1.000000	0.71417	0.781000	0.31783	0.979000	0.70002	5.673000	0.68109	2.793000	0.96121	0.655000	0.94253	GTC		0.557	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		A	7797351	G	A	7797351	3	1	113	1	0	0	0	0	1	0	0	0	2615	1145	40	1	3437	1	CAMTA1	1	7797351	Missense_Mutation	SNP	G	TCGA-AK-3465-01A-01D-0966-08		7797351	241453270	1	7010											
SLC45A1	50651	broad.mit.edu	37	1	8399610	8399610	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:8399610A>G	ENST00000471889.1	+	8	2217	c.1832A>G	c.(1831-1833)tAt>tGt	p.Y611C	SLC45A1_ENST00000377479.2_Missense_Mutation_p.Y645C|SLC45A1_ENST00000289877.8_Missense_Mutation_p.Y611C			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	611					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TTCATCGCCTATCTCGCCTTC	0.607																																																0													157	138	145					1																	8399610		2203	4300	6503	SO:0001583	missense	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1832A>G	1.37:g.8399610A>G	ENSP00000418096:p.Tyr611Cys		Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273035	0.80580	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.92699	-3.09;-3.09;-3.09	5.22	5.22	0.72569	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95592	0.8567	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95237	0.8348	10	0.42905	T	0.14	-16.5387	14.3011	0.66352	1.0:0.0:0.0:0.0	.	611	Q9Y2W3	S45A1_HUMAN	C	611;645;611	ENSP00000418096:Y611C;ENSP00000366699:Y645C;ENSP00000289877:Y611C	ENSP00000289877:Y611C	Y	+	2	0	SLC45A1	8322197	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.818000	0.91991	1.965000	0.57142	0.454000	0.30748	TAT		0.607	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			G	8399610	A	G	8399610	3	3	113	1	0	0	0	0	1	0	0	0	14646	449	16	3	1858	3	SLC45A1	1	8399610	Missense_Mutation	SNP	A	TCGA-AK-3465-01A-01D-0966-08	602259	8399610	240851011	2	7011											
C1QC	714	broad.mit.edu	37	1	22974251	22974251	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:22974251C>G	ENST00000374639.3	+	3	831	c.713C>G	c.(712-714)tCc>tGc	p.S238C	C1QC_ENST00000374640.4_Missense_Mutation_p.S238C|C1QC_ENST00000374637.1_Missense_Mutation_p.S238C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	238	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCGTCTTCTCCGGCTTCCTG	0.642																																					Ovarian(26;671 750 8290 29071 43278)											0													82	83	83					1																	22974251		2203	4300	6503	SO:0001583	missense	714			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.713C>G	1.37:g.22974251C>G	ENSP00000363770:p.Ser238Cys		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	CCDS227.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552207	0.86127	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.79845	-1.31;-1.31;-1.31	4.79	4.79	0.61399	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94652	0.7840	10	0.87932	D	0	.	16.3983	0.83631	0.0:1.0:0.0:0.0	.	238	P02747	C1QC_HUMAN	C	238	ENSP00000363771:S238C;ENSP00000363770:S238C;ENSP00000363768:S238C	ENSP00000363768:S238C	S	+	2	0	C1QC	22846838	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	5.396000	0.66297	2.198000	0.70561	0.561000	0.74099	TCC		0.642	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		G	22974251	C	G	22974251	3	3	113	1	0	0	0	0	1	0	0	0	1959	855	30	4	719	4	C1QC	1	22974251	Missense_Mutation	SNP	C	TCGA-AK-3465-01A-01D-0966-08	14574641	22974251	226276370	3	7012											
KIAA1324	57535	broad.mit.edu	37	1	109740267	109740267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:109740267C>T	ENST00000369939.3	+	16	2476	c.2293C>T	c.(2293-2295)Cga>Tga	p.R765*	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.R678*	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	765					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CCTTGCTGATCGACTTATTGG	0.527																																																0													42	36	38					1																	109740267		2203	4300	6503	SO:0001587	stop_gained	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2293C>T	1.37:g.109740267C>T	ENSP00000358955:p.Arg765*		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Nonsense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	38	7.185109	0.98121	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	.	.	.	6.08	5.16	0.70880	.	0.510190	0.21770	N	0.069377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-7.4744	15.905	0.79419	0.1362:0.8638:0.0:0.0	.	.	.	.	X	765;715;678	.	ENSP00000358955:R765X	R	+	1	2	KIAA1324	109541790	0.012000	0.17670	0.649000	0.29536	0.820000	0.46376	0.905000	0.28504	1.560000	0.49568	0.655000	0.94253	CGA		0.527	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		T	109740267	C	T	109740267	4	4	113	1	0	0	0	0	0	1	0	0	8225	876	31	1	2355	1	KIAA1324	1	109740267	Nonsense_Mutation	SNP	C	TCGA-AK-3465-01A-01D-0966-08	86766016	109740267	139510354	4	7013											
RORC	6097	broad.mit.edu	37	1	151801927	151801927	+	Silent	SNP	C	C	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr1:151801927C>A	ENST00000318247.6	-	2	155	c.48G>T	c.(46-48)ctG>ctT	p.L16L	RORC_ENST00000392697.3_Silent_p.L70L	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	16	Modulating. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTTGCAGCCAGCAGCTCTG	0.537																																																0													112	114	113					1																	151801927		2203	4300	6503	SO:0001819	synonymous_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.48G>T	1.37:g.151801927C>A			Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	CCDS1004.1																																																																																				0.537	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			A	151801927	C	A	151801927	2	1	113	1	0	0	0	0	0	0	0	1	13536	581	21	4		4	RORC	1	151801927	Silent	SNP	C	TCGA-AK-3465-01A-01D-0966-08	42061660	151801927	97448694	5	7014											
GTF3C2	2976	broad.mit.edu	37	2	27559290	27559290	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr2:27559290A>G	ENST00000359541.2	-	8	1559	c.1130T>C	c.(1129-1131)tTt>tCt	p.F377S	AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000589232.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.F377S|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000585326.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	377					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCGAGCTAAATCTAGAGAA	0.532																																																0													30	33	32					2																	27559290		2202	4300	6502	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1130T>C	2.37:g.27559290A>G	ENSP00000352536:p.Phe377Ser		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.611318	0.66558	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.79352	-1.26;-1.26	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.81865	-0.0736	10	0.42905	T	0.14	-16.0942	13.9181	0.63914	1.0:0.0:0.0:0.0	.	377;377;377	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	S	377	ENSP00000352536:F377S;ENSP00000264720:F377S	ENSP00000264720:F377S	F	-	2	0	GTF3C2	27412794	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	7.940000	0.87693	2.186000	0.69663	0.455000	0.32223	TTT		0.532	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			G	27559290	A	G	27559290	3	3	113	1	0	0	0	0	1	0	0	0	6875	14	1	3	1653	3	GTF3C2	2	27559290	Missense_Mutation	SNP	A	TCGA-AK-3465-01A-01D-0966-08		27559290	215640083	6	7015											
PRR23B	389151	broad.mit.edu	37	3	138739488	138739488	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr3:138739488G>A	ENST00000329447.5	-	1	280	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	6										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGGGCTGCGGGGCCGGCTG	0.721																																																0													2	3	3					3																	138739488		1363	3121	4484	SO:0001583	missense	389151			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.16C>T	3.37:g.138739488G>A	ENSP00000328768:p.Arg6Cys		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806532	0.50421	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.15	3.15	0.36227	.	0.569959	0.14830	N	0.295915	T	0.64136	0.2571	L	0.54323	1.7	0.34200	D	0.673079	D	0.89917	1.0	D	0.72075	0.976	T	0.70364	-0.4892	9	0.48119	T	0.1	.	10.0141	0.42003	0.0:0.0:1.0:0.0	.	6	Q6ZRT6	PR23B_HUMAN	C	6	.	ENSP00000328768:R6C	R	-	1	0	PRR23B	140222178	0.005000	0.15991	0.978000	0.43139	0.169000	0.22640	1.088000	0.30877	2.056000	0.61249	0.484000	0.47621	CGC		0.721	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		A	138739488	G	A	138739488	3	1	113	1	0	0	0	0	1	0	0	0	12600	1116	39	1	785	1	PRR23B	3	138739488	Missense_Mutation	SNP	G	TCGA-AK-3465-01A-01D-0966-08		138739488	59282942	7	7016											
ALB	213	broad.mit.edu	37	4	74270115	74270115	+	Missense_Mutation	SNP	G	G	A	rs74821926		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr4:74270115G>A	ENST00000295897.4	+	1	160	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	ALB_ENST00000401494.3_Missense_Mutation_p.R24Q|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.R24Q|ALB_ENST00000415165.2_Missense_Mutation_p.R24Q	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGTTTCGTCGAGATGCACGT	0.363																																																0			GRCh37	CM870084|CM890279|CM910022	ALB	M	rs74821926						123	117	119					4																	74270115		2203	4300	6503	SO:0001583	missense	213			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.71G>A	4.37:g.74270115G>A	ENSP00000295897:p.Arg24Gln		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848220	0.91277	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000415165;ENST00000329326;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.74315	-0.83;-0.83;-0.13;-0.83;0.22	5.55	5.55	0.83447	Serum albumin, N-terminal (2);	0.258639	0.29616	N	0.011657	D	0.84047	0.5386	L	0.58302	1.8	0.27001	N	0.964914	D;P;D;D	0.89917	0.995;0.789;1.0;1.0	P;B;D;D	0.69142	0.671;0.277;0.929;0.962	T	0.78112	-0.2331	10	0.87932	D	0	-14.4042	18.2357	0.89948	0.0:0.0:1.0:0.0	.	24;24;24;24	B7WNR0;C9JKR2;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	Q	26;24;24;24;24;24;24	ENSP00000392541:R26Q;ENSP00000295897:R24Q;ENSP00000401820:R24Q;ENSP00000422784:R24Q;ENSP00000384695:R24Q	ENSP00000295897:R24Q	R	+	2	0	ALB	74488979	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.444000	0.66587	2.885000	0.99019	0.655000	0.94253	CGA		0.363	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		A	74270115	G	A	74270115	3	1	113	1	0	0	0	0	1	0	0	0	486	1058	37	1	73	1	ALB	4	74270115	Missense_Mutation	SNP	G	TCGA-AK-3465-01A-01D-0966-08		74270115	116884161	8	7017											
FNIP1	96459	broad.mit.edu	37	5	131013435	131013435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:131013435delC	ENST00000510461.1	-	13	1575	c.1480delG	c.(1480-1482)gcafs	p.A494fs	FNIP1_ENST00000307954.8_Frame_Shift_Del_p.A449fs|FNIP1_ENST00000307968.7_Frame_Shift_Del_p.A466fs|FNIP1_ENST00000511848.1_Frame_Shift_Del_p.A494fs|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	494					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGAGTCTTTGCCAACATGTCC	0.383																																																0													129	126	127					5																	131013435		2203	4300	6503	SO:0001589	frameshift_variant	96459			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1480delG	5.37:g.131013435delC	ENSP00000421985:p.Ala494fs		D6RJH5|Q86T47|Q9BUT0	Frame_Shift_Del	DEL	ENST00000510461.1	37	CCDS34227.1																																																																																				0.383	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		-	131013435	C	-	131013435	7	5	113	1	0	1	0	1	0	0	0	0	5977	739	26	0	2044	0	FNIP1	5	131013435	Frame_Shift_Del	DEL	C	TCGA-AK-3465-01A-01D-0966-08		131013435	49901825	9	7018											
PCDHGB6	56100	broad.mit.edu	37	5	140789895	140789895	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr5:140789895T>A	ENST00000520790.1	+	1	2126	c.2126T>A	c.(2125-2127)cTg>cAg	p.L709Q	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	709					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGATTCTGGCCATTGCC	0.587																																																0													150	157	154					5																	140789895		2091	4222	6313	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.2126T>A	5.37:g.140789895T>A	ENSP00000428603:p.Leu709Gln		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	t	16.09	3.025034	0.54683	.	.	ENSG00000253305	ENST00000520790	T	0.27256	1.68	5.18	5.18	0.71444	.	.	.	.	.	T	0.59810	0.2221	H	0.94847	3.59	0.09310	N	1	P;D	0.76494	0.85;0.999	P;D	0.75020	0.507;0.985	T	0.60419	-0.7267	9	0.87932	D	0	.	9.757	0.40508	0.0:0.0805:0.0:0.9195	.	709;709	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	Q	709	ENSP00000428603:L709Q	ENSP00000428603:L709Q	L	+	2	0	PCDHGB6	140770079	0.023000	0.18921	0.992000	0.48379	0.600000	0.36913	2.213000	0.42844	1.956000	0.56807	0.460000	0.39030	CTG		0.587	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		A	140789895	T	A	140789895	3	1	113	1	0	0	0	0	1	0	0	0	11569	1580	55	5	2128	5	PCDHGB6	5	140789895	Missense_Mutation	SNP	T	TCGA-AK-3465-01A-01D-0966-08	9776460	140789895	40125365	10	7019											
CD109	135228	broad.mit.edu	37	6	74440152	74440152	+	Missense_Mutation	SNP	G	G	A	rs111900767		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:74440152G>A	ENST00000287097.5	+	4	474	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CD109_ENST00000422508.2_Intron|CD109_ENST00000437994.2_Missense_Mutation_p.R121H			Q6YHK3	CD109_HUMAN	CD109 molecule	121					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATAGTACCCGCTTATCATTT	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		18420	0.0		0.0	False		,,,				2504	0.001															0													131	127	128					6																	74440152		2203	4300	6503	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.362G>A	6.37:g.74440152G>A	ENSP00000287097:p.Arg121His		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	5.860	0.342880	0.11069	.	.	ENSG00000156535	ENST00000437994;ENST00000287097	T;T	0.24350	1.86;1.86	4.28	-2.17	0.07059	.	1.017200	0.07823	N	0.960159	T	0.03390	0.0098	N	0.14661	0.345	0.09310	N	0.999997	B;B;B	0.16396	0.017;0.004;0.001	B;B;B	0.13407	0.005;0.009;0.002	T	0.41106	-0.9527	10	0.39692	T	0.17	.	0.7748	0.01030	0.2431:0.3321:0.1914:0.2334	.	121;121;121	Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	H	121	ENSP00000388062:R121H;ENSP00000287097:R121H	ENSP00000287097:R121H	R	+	2	0	CD109	74496873	0.001000	0.12720	0.207000	0.23584	0.211000	0.24417	-0.075000	0.11431	-0.338000	0.08413	-0.150000	0.13652	CGC		0.418	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		A	74440152	G	A	74440152	3	1	113	1	0	0	0	0	1	0	0	0	2965	1087	38	1	376	1	CD109	6	74440152	Missense_Mutation	SNP	G	TCGA-AK-3465-01A-01D-0966-08		74440152	96674915	11	7020											
WDR27	253769	broad.mit.edu	37	6	170033136	170033136	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr6:170033136C>A	ENST00000448612.1	-	21	2239	c.2130G>T	c.(2128-2130)agG>agT	p.R710S	WDR27_ENST00000423258.1_Missense_Mutation_p.R583S|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.R710S	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	680						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTTCCACGGTCCTGTTCCGGC	0.532																																																0													59	61	60					6																	170033136		1997	4161	6158	SO:0001583	missense	253769			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2130G>T	6.37:g.170033136C>A	ENSP00000416289:p.Arg710Ser		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838957	0.32513	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.39592	5.02;1.07;5.02	5.04	0.587	0.17439	.	0.000000	0.64402	D	0.000001	T	0.37785	0.1016	L	0.57536	1.79	0.30279	N	0.791524	D;D;D	0.89917	0.997;1.0;0.992	D;D;P	0.83275	0.938;0.996;0.804	T	0.20874	-1.0262	10	0.51188	T	0.08	-24.8568	5.8724	0.18810	0.0:0.1766:0.1642:0.6593	.	710;583;710	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	S	710;710;583	ENSP00000416289:R710S;ENSP00000330265:R710S;ENSP00000397869:R583S	ENSP00000330265:R710S	R	-	3	2	WDR27	169775061	0.433000	0.25562	0.002000	0.10522	0.064000	0.16182	0.139000	0.16036	-0.129000	0.11620	-0.142000	0.14014	AGG		0.532	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		A	170033136	C	A	170033136	3	1	113	1	0	0	0	0	1	0	0	0	17289	854	30	4	463	4	WDR27	6	170033136	Missense_Mutation	SNP	C	TCGA-AK-3465-01A-01D-0966-08	95592984	170033136	1081931	12	7021											
RADIL	55698	broad.mit.edu	37	7	4841532	4841532	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:4841532G>A	ENST00000399583.3	-	12	2781	c.2594C>T	c.(2593-2595)cCg>cTg	p.P865L	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.P625L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	865	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGTACGCTCCGGGGCCACTTC	0.736																																																0													5	6	5					7																	4841532		1464	3462	4926	SO:0001583	missense	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2594C>T	7.37:g.4841532G>A	ENSP00000382492:p.Pro865Leu		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989305	0.18966	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.07444	3.28;3.19	4.94	-3.18	0.05186	.	1.192850	0.06368	N	0.712981	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.0;0.001	T	0.44757	-0.9307	10	0.23891	T	0.37	-0.0211	0.781	0.01041	0.3056:0.1123:0.3173:0.2648	.	865;173	Q96JH8;Q75LH2	RADIL_HUMAN;.	L	865;836;599;625	ENSP00000382492:P865L;ENSP00000442966:P625L	ENSP00000320946:P836L	P	-	2	0	RADIL	4808058	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.208000	0.09371	-0.213000	0.10094	-0.253000	0.11424	CCG		0.736	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		A	4841532	G	A	4841532	3	1	113	1	0	0	0	0	1	0	0	0	13003	1116	39	1	649	1	RADIL	7	4841532	Missense_Mutation	SNP	G	TCGA-AK-3465-01A-01D-0966-08		4841532	154297131	13	7022											
CRCP	27297	broad.mit.edu	37	7	65579857	65579857	+	5'UTR	SNP	C	C	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:65579857C>G	ENST00000395326.3	+	0	266				CRCP_ENST00000338592.5_5'UTR|CRCP_ENST00000431089.2_Missense_Mutation_p.S14R|CRCP_ENST00000398684.2_5'UTR|AC068533.7_ENST00000450043.1_Intron	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)			cervix(1)|kidney(1)|lung(4)	6						GCGCGCGGAGCTGGCACCTTG	0.682																																																0													47	46	46					7																	65579857		692	1591	2283	SO:0001623	5_prime_UTR_variant	27297			AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"calcitonin gene-related peptide-receptor component protein"	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.-93C>G	7.37:g.65579857C>G			A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Missense_Mutation	SNP	ENST00000395326.3	37	CCDS5532.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946534	0.34377	.	.	ENSG00000241258	ENST00000431089	.	.	.	2.84	-1.79	0.07932	.	.	.	.	.	T	0.16896	0.0406	.	.	.	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.22556	-1.0213	7	0.25106	T	0.35	.	1.4051	0.02279	0.3716:0.3236:0.1828:0.122	.	14	B4E198	.	R	14	.	ENSP00000388653:S14R	S	+	3	2	CRCP	65217292	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-0.828000	0.04419	-0.418000	0.07450	0.393000	0.25936	AGC		0.682	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251697.2	NM_014478		G	65579857	C	G	65579857	1	3	113	0	1	0	0	0	0	0	0	0	3854	796	28	4		4	CRCP	7	65579857	5'UTR	SNP	C	TCGA-AK-3465-01A-01D-0966-08	60738325	65579857	93558806	14	7023											
PLXNA4	91584	broad.mit.edu	37	7	131913110	131913110	+	Missense_Mutation	SNP	C	C	T	rs143690954		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr7:131913110C>T	ENST00000359827.3	-	6	2685	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V575M			Q9HCM2	PLXA4_HUMAN	plexin A4	575					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTTACCAGCACGTTGTACTGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		16874	0.001		0.0	False		,,,				2504	0.0															0													65	68	67					7																	131913110		1971	4149	6120	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1723G>A	7.37:g.131913110C>T	ENSP00000352882:p.Val575Met		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.102977	0.94245	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01059	5.39;5.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.02929	0.0087	L	0.58510	1.815	0.80722	D	1	D	0.53885	0.963	P	0.45195	0.473	T	0.55897	-0.8068	10	0.51188	T	0.08	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	575	Q9HCM2	PLXA4_HUMAN	M	575	ENSP00000323194:V575M;ENSP00000352882:V575M	ENSP00000323194:V575M	V	-	1	0	PLXNA4	131563650	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.946000	0.70234	2.793000	0.96121	0.655000	0.94253	GTG		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131913110	C	T	131913110	3	4	113	1	0	0	0	0	1	0	0	0	12124	536	19	1	4069	1	PLXNA4	7	131913110	Missense_Mutation	SNP	C	TCGA-AK-3465-01A-01D-0966-08	66333253	131913110	27225553	15	7024											
FAM82B	51115	broad.mit.edu	37	8	87486540	87486540	+	Silent	SNP	A	A	G	rs542748747|rs529480556	byFrequency	TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:87486540A>G	ENST00000406452.3	-	10	1101	c.942T>C	c.(940-942)aaT>aaC	p.N314N	RMDN1_ENST00000430676.2_Silent_p.N284N|RMDN1_ENST00000519966.1_Silent_p.N271N|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	314						microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAAGTTCTCAATTCTTCTCAC	0.303													a|||	2	0.000399361	0.0	0.0	5008	,	,		17496	0.002		0.0	False		,,,				2504	0.0															0													65	70	68					8																	87486540		2202	4292	6494	SO:0001819	synonymous_variant	51115			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.942T>C	8.37:g.87486540A>G			A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Silent	SNP	ENST00000406452.3	37	CCDS34918.1																																																																																				0.303	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		G	87486540	A	G	87486540	2	3	113	1	0	0	0	0	0	0	0	1	5634	98	4	3		3	FAM82B	8	87486540	Silent	SNP	A	TCGA-AK-3465-01A-01D-0966-08		87486540	58877482	16	7025											
LRRC14	9684	broad.mit.edu	37	8	145746499	145746502	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr8:145746499_145746502delTGAG	ENST00000292524.1	+	4	1265_1268	c.1119_1122delTGAG	c.(1117-1122)actgagfs	p.TE373fs	LRRC14_ENST00000529022.1_Frame_Shift_Del_p.TE373fs	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	373										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGAGCTGACTGAGTGTCAGCTCG	0.593																																																0																																										SO:0001589	frameshift_variant	9684			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1119_1122delTGAG	8.37:g.145746499_145746502delTGAG	ENSP00000292524:p.Thr373fs		A8K0A8|D3DWM8	Frame_Shift_Del	DEL	ENST00000292524.1	37	CCDS6432.1																																																																																				0.593	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		-	145746502	TGAG	-	145746499	7	5	113	1	0	1	0	1	0	0	0	0	8970	1567	55	0	1129	0	LRRC14	8	145746499	Frame_Shift_Del	DEL	TGAG	TCGA-AK-3465-01A-01D-0966-08	58259959	145746499	617523	17	7026											
C9orf82	79886	broad.mit.edu	37	9	26842367	26842367	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr9:26842367C>G	ENST00000333916.5	-	6	1106	c.1018G>C	c.(1018-1020)Gaa>Caa	p.E340Q	CAAP1_ENST00000520187.1_3'UTR|CAAP1_ENST00000535437.1_Missense_Mutation_p.E195Q	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	340					apoptotic process (GO:0006915)												ATCTCAAGTTCTAGCAGCTCC	0.458																																																0													103	98	100					9																	26842367		2203	4300	6503	SO:0001583	missense	79886			BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"conserved anti-apoptotic protein"		"chromosome 9 open reading frame 82"	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.1018G>C	9.37:g.26842367C>G	ENSP00000369431:p.Glu340Gln		B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Missense_Mutation	SNP	ENST00000333916.5	37	CCDS6516.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357086	0.82243	.	.	ENSG00000120159	ENST00000333916;ENST00000535437	T;T	0.71103	-0.54;-0.46	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.84690	0.0722	10	0.87932	D	0	-24.1567	20.0114	0.97452	0.0:1.0:0.0:0.0	.	340	Q9H8G2	CI082_HUMAN	Q	340;195	ENSP00000369431:E340Q;ENSP00000444885:E195Q	ENSP00000369431:E340Q	E	-	1	0	C9orf82	26832367	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.672000	0.74477	2.732000	0.93576	0.591000	0.81541	GAA		0.458	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		G	26842367	C	G	26842367	3	3	113	1	0	0	0	0	1	0	0	0	2501	922	32	4	71	4	C9orf82	9	26842367	Missense_Mutation	SNP	C	TCGA-AK-3465-01A-01D-0966-08		26842367	114371064	18	7027											
ITIH2	3698	broad.mit.edu	37	10	7751105	7751105	+	Missense_Mutation	SNP	G	G	A	rs142420238		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr10:7751105G>A	ENST00000358415.4	+	4	479	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	ITIH2_ENST00000379587.4_Missense_Mutation_p.V94M|ITIH2_ENST00000480387.1_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	105	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCAGAATGTCGTGTTTGATGT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		20035	0.001		0.0	False		,,,				2504	0.0															0								G	MET/VAL	0,4406		0,0,2203	137	127	131		313	5.8	0.8	10	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITIH2	NM_002216.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	105/947	7751105	1,13005	2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.313G>A	10.37:g.7751105G>A	ENSP00000351190:p.Val105Met		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782725	0.90282	0.0	1.16E-4	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.22743	1.94;1.94;1.94	5.85	5.85	0.93711	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.176974	0.49916	D	0.000135	T	0.49098	0.1537	M	0.78637	2.42	0.44562	D	0.997528	D	0.69078	0.997	D	0.63877	0.919	T	0.44236	-0.9341	10	0.56958	D	0.05	-22.4983	20.1663	0.98152	0.0:0.0:1.0:0.0	.	105	P19823	ITIH2_HUMAN	M	105;80;94	ENSP00000351190:V105M;ENSP00000388826:V80M;ENSP00000368906:V94M	ENSP00000351190:V105M	V	+	1	0	ITIH2	7791111	1.000000	0.71417	0.840000	0.33206	0.956000	0.61745	4.656000	0.61483	2.773000	0.95371	0.585000	0.79938	GTG		0.443	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		A	7751105	G	A	7751105	3	1	113	1	0	0	0	0	1	0	0	0	7906	1145	40	1	327	1	ITIH2	10	7751105	Missense_Mutation	SNP	G	TCGA-AK-3465-01A-01D-0966-08		7751105	127783642	19	7028											
OR6Q1	219952	broad.mit.edu	37	11	57798663	57798663	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:57798663T>G	ENST00000302622.3	+	1	262	c.239T>G	c.(238-240)gTg>gGg	p.V80G	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TCTGTTACAGTGCCCAAGATG	0.473																																																0													175	167	170					11																	57798663		2201	4296	6497	SO:0001583	missense	219952			AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.239T>G	11.37:g.57798663T>G	ENSP00000307734:p.Val80Gly		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103717	0.37145	.	.	ENSG00000172381	ENST00000302622	T	0.05139	3.49	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32918	N	0.005491	T	0.11793	0.0287	M	0.77616	2.38	0.50313	D	0.999862	B	0.28667	0.219	B	0.28709	0.093	T	0.01578	-1.1320	10	0.62326	D	0.03	.	13.3514	0.60603	0.0:0.0:0.0:1.0	.	80	Q8NGQ2	OR6Q1_HUMAN	G	80	ENSP00000307734:V80G	ENSP00000307734:V80G	V	+	2	0	OR6Q1	57555239	0.080000	0.21391	0.972000	0.41901	0.662000	0.39071	0.751000	0.26348	1.805000	0.52779	0.523000	0.50628	GTG		0.473	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		G	57798663	T	G	57798663	3	3	113	1	0	0	0	0	1	0	0	0	11210	1696	59	5	241	5	OR6Q1	11	57798663	Missense_Mutation	SNP	T	TCGA-AK-3465-01A-01D-0966-08		57798663	77207853	20	7029											
SCYL1	57410	broad.mit.edu	37	11	65293511	65293511	+	Silent	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr11:65293511C>T	ENST00000270176.5	+	3	449	c.372C>T	c.(370-372)atC>atT	p.I124I	SCYL1_ENST00000525364.1_Silent_p.I124I|SCYL1_ENST00000527009.1_5'UTR|SCYL1_ENST00000533862.1_Silent_p.I124I|SCYL1_ENST00000279270.6_Silent_p.I124I|SCYL1_ENST00000524944.1_Silent_p.I124I|SCYL1_ENST00000420247.2_Silent_p.I124I	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						TACACCAGATCGTGGTGAGGT	0.617																																																0													50	57	54					11																	65293511		1993	4152	6145	SO:0001819	synonymous_variant	57410			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.372C>T	11.37:g.65293511C>T			A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	CCDS41672.1																																																																																				0.617	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		T	65293511	C	T	65293511	2	4	113	1	0	0	0	0	0	0	0	1	13953	874	31	1		1	SCYL1	11	65293511	Silent	SNP	C	TCGA-AK-3465-01A-01D-0966-08	7494848	65293511	69713005	21	7030											
PRPF40B	25766	broad.mit.edu	37	12	50025308	50025308	+	Missense_Mutation	SNP	C	C	T	rs149751647		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:50025308C>T	ENST00000380281.1	+	2	207	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V|PRPF40B_ENST00000261897.1_Missense_Mutation_p.A42V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	48	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAATGGGGGCGCCACCACCA	0.612																																																0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	64	68	67		143,125	4.5	1	12	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRPF40B	NM_001031698.1,NM_012272.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	48/872,42/859	50025308	1,13005	2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.143C>T	12.37:g.50025308C>T	ENSP00000369634:p.Ala48Val		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	C	12.03	1.814713	0.32053	0.0	1.16E-4	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.23754	1.92;1.9;1.89	5.41	4.47	0.54385	.	0.107089	0.39341	N	0.001388	T	0.13457	0.0326	N	0.22421	0.69	0.42471	D	0.992827	P;P;P	0.42871	0.688;0.792;0.792	B;B;B	0.31337	0.06;0.128;0.128	T	0.06162	-1.0842	9	.	.	.	-11.7007	11.7512	0.51849	0.0:0.6945:0.3055:0.0	.	48;42;48	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	V	70;42;48	ENSP00000448073:A70V;ENSP00000261897:A42V;ENSP00000369634:A48V	.	A	+	2	0	PRPF40B	48311575	0.999000	0.42202	0.994000	0.49952	0.993000	0.82548	3.523000	0.53488	2.699000	0.92147	0.655000	0.94253	GCG		0.612	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		T	50025308	C	T	50025308	3	4	113	1	0	0	0	0	1	0	0	0	12577	768	27	1	149	1	PRPF40B	12	50025308	Missense_Mutation	SNP	C	TCGA-AK-3465-01A-01D-0966-08		50025308	83826587	22	7031											
NOS1	4842	broad.mit.edu	37	12	117665398	117665398	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr12:117665398C>T	ENST00000338101.4	-	23	3560	c.3556G>A	c.(3556-3558)Gtg>Atg	p.V1186M	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.V1152M			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AGCACCTCCACGATGGTGGGG	0.577																																					Esophageal Squamous(162;1748 2599 51982 52956)											0													85	96	92					12																	117665398		2074	4204	6278	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3556G>A	12.37:g.117665398C>T	ENSP00000337459:p.Val1186Met			Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377950	0.82682	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.34667	1.35;1.35	4.95	4.95	0.65309	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.70375	-0.4889	10	0.72032	D	0.01	-27.5773	18.3687	0.90400	0.0:1.0:0.0:0.0	.	1152	P29475	NOS1_HUMAN	M	1047;1152;1152;1186	ENSP00000320758:V1152M;ENSP00000337459:V1186M	ENSP00000320758:V1152M	V	-	1	0	NOS1	116149781	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.790000	0.69038	2.557000	0.86248	0.591000	0.81541	GTG		0.577	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			T	117665398	C	T	117665398	3	4	113	1	0	0	0	0	1	0	0	0	10543	536	19	1	878	1	NOS1	12	117665398	Missense_Mutation	SNP	C	TCGA-AK-3465-01A-01D-0966-08	67640090	117665398	16186497	23	7032											
C14orf45	80127	broad.mit.edu	37	14	74514756	74514760	+	Frame_Shift_Del	DEL	TACTT	TACTT	-	rs185884398	byFrequency	TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr14:74514756_74514760delTACTT	ENST00000394009.3	+	7	894_898	c.771_775delTACTT	c.(769-777)catactttafs	p.TL258fs	CCDC176_ENST00000489323.1_3'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_5'UTR	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	258					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											AAGAGAGTCATACTTTACTTTTACA	0.341																																																0																																										SO:0001589	frameshift_variant	80127			BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 45"	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.771_775delTACTT	14.37:g.74514761_74514765delTACTT	ENSP00000377577:p.Thr258fs		Q0P604|Q9H5P8	Frame_Shift_Del	DEL	ENST00000394009.3	37	CCDS32119.2																																																																																				0.341	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		-	74514760	TACTT	-	74514756	7	5	113	1	0	1	0	1	0	0	0	0	1777	1403	49	0	797	0	C14orf45	14	74514756	Frame_Shift_Del	DEL	TACTT	TCGA-AK-3465-01A-01D-0966-08		74514756	32834784	24	7033											
TGM5	9333	broad.mit.edu	37	15	43544964	43544964	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr15:43544964C>T	ENST00000220420.5	-	6	862	c.855G>A	c.(853-855)atG>atA	p.M285I	TGM5_ENST00000349114.4_Missense_Mutation_p.M203I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	285					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TACCTGTGCACATGACGGCAG	0.582																																																0													70	69	69					15																	43544964		2202	4299	6501	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.855G>A	15.37:g.43544964C>T	ENSP00000220420:p.Met285Ile		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706506	0.68615	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.88664	-2.41;-2.41	4.88	3.96	0.45880	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.044145	0.85682	D	0.000000	D	0.93083	0.7798	M	0.86178	2.8	0.38406	D	0.945805	D;P	0.58268	0.982;0.664	P;P	0.58577	0.841;0.527	D	0.93969	0.7247	10	0.62326	D	0.03	-17.1478	11.3248	0.49442	0.0:0.9095:0.0:0.0905	.	203;285	O43548-2;O43548	.;TGM5_HUMAN	I	285;203;284	ENSP00000220420:M285I;ENSP00000220419:M203I	ENSP00000220420:M285I	M	-	3	0	TGM5	41332256	0.989000	0.36119	1.000000	0.80357	0.977000	0.68977	0.653000	0.24902	1.178000	0.42870	0.655000	0.94253	ATG		0.582	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		T	43544964	C	T	43544964	3	4	113	1	0	0	0	0	1	0	0	0	15838	478	17	2	1339	2	TGM5	15	43544964	Missense_Mutation	SNP	C	TCGA-AK-3465-01A-01D-0966-08		43544964	58986428	25	7034											
SSTR5	6755	broad.mit.edu	37	16	1129327	1129327	+	Silent	SNP	G	G	A	rs141899937		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:1129327G>A	ENST00000293897.4	+	1	547	c.459G>A	c.(457-459)ccG>ccA	p.P153P	SSTR5_ENST00000562758.1_Silent_p.P153P|SSTR5_ENST00000397547.2_Silent_p.P153P|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	153					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.P153P(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GGCGCCGCCCGCGTGTGGCCA	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		11905	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	lung(1)						G	,	1,4353		0,1,2176	15	17	16		459,459	-9.7	0	16	dbSNP_134	16	0,8530		0,0,4265	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,1,6441	AA,AG,GG		0.0,0.023,0.0078	,	153/365,153/365	1129327	1,12883	2177	4265	6442	SO:0001819	synonymous_variant	6755			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.459G>A	16.37:g.1129327G>A			P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	CCDS10429.1																																																																																				0.687	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			A	1129327	G	A	1129327	2	1	113	1	0	0	0	0	0	0	0	1	15206	1074	38	1		1	SSTR5	16	1129327	Silent	SNP	G	TCGA-AK-3465-01A-01D-0966-08		1129327	89225426	26	7035											
CIITA	4261	broad.mit.edu	37	16	11001311	11001311	+	Silent	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr16:11001311C>T	ENST00000324288.8	+	11	2095	c.1962C>T	c.(1960-1962)ccC>ccT	p.P654P	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	654	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACAGCCCCCCCGGGGCCCTGG	0.682			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													18	20	19					16																	11001311		2182	4275	6457	SO:0001819	synonymous_variant	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1962C>T	16.37:g.11001311C>T			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	CCDS10544.1																																																																																				0.682	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		T	11001311	C	T	11001311	2	4	113	1	0	0	0	0	0	0	0	1	3430	639	23	1		1	CIITA	16	11001311	Silent	SNP	C	TCGA-AK-3465-01A-01D-0966-08	9871984	11001311	79353442	27	7036											
IL12RB1	3594	broad.mit.edu	37	19	18173055	18173055	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:18173055C>T	ENST00000600835.2	-	15	1949	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	IL12RB1_ENST00000593993.2_Missense_Mutation_p.A551T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	551					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCCAGGGAGGCGAAGAAGATG	0.572																																																0													93	98	97					19																	18173055		2008	4175	6183	SO:0001583	missense	3594			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1651G>A	19.37:g.18173055C>T	ENSP00000470788:p.Ala551Thr		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295366	0.40594	.	.	ENSG00000096996	ENST00000430026	D	0.82526	-1.62	2.49	0.234	0.15390	.	1.214380	0.06327	N	0.705434	T	0.80732	0.4679	L	0.50333	1.59	0.09310	N	1	D;D	0.60160	0.987;0.977	P;P	0.51016	0.656;0.454	T	0.66212	-0.5980	10	0.26408	T	0.33	-1.7014	3.7268	0.08477	0.0:0.5885:0.2579:0.1536	.	551;551	P42701-2;P42701	.;I12R1_HUMAN	T	551	ENSP00000403103:A551T	ENSP00000403103:A551T	A	-	1	0	IL12RB1	18034055	0.000000	0.05858	0.000000	0.03702	0.860000	0.49131	-0.057000	0.11768	0.148000	0.19059	0.313000	0.20887	GCC		0.572	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			T	18173055	C	T	18173055	3	4	113	1	0	0	0	0	1	0	0	0	7628	768	27	1	353	1	IL12RB1	19	18173055	Missense_Mutation	SNP	C	TCGA-AK-3465-01A-01D-0966-08		18173055	40955928	28	7037											
SIPA1L3	23094	broad.mit.edu	37	19	38692610	38692610	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:38692610C>T	ENST00000222345.6	+	20	5602	c.5093C>T	c.(5092-5094)cCg>cTg	p.P1698L	CTB-102L5.8_ENST00000598146.1_RNA|RN7SL663P_ENST00000578592.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1698					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGGGACCCCCGACCCCCAGG	0.647																																																0													56	60	59					19																	38692610		2203	4300	6503	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.5093C>T	19.37:g.38692610C>T	ENSP00000222345:p.Pro1698Leu		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	6.415	0.444639	0.12164	.	.	ENSG00000105738	ENST00000222345	T	0.28255	1.62	4.82	2.57	0.30868	.	0.830110	0.10805	N	0.632226	T	0.17534	0.0421	N	0.24115	0.695	0.30818	N	0.738114	B	0.29270	0.24	B	0.24701	0.055	T	0.25398	-1.0133	10	0.07813	T	0.8	-10.8889	9.6934	0.40143	0.393:0.607:0.0:0.0	.	1698	O60292	SI1L3_HUMAN	L	1698	ENSP00000222345:P1698L	ENSP00000222345:P1698L	P	+	2	0	SIPA1L3	43384450	0.594000	0.26849	0.977000	0.42913	0.951000	0.60555	1.461000	0.35255	0.373000	0.24621	0.561000	0.74099	CCG		0.647	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		T	38692610	C	T	38692610	3	4	113	1	0	0	0	0	1	0	0	0	14337	652	23	1	5163	1	SIPA1L3	19	38692610	Missense_Mutation	SNP	C	TCGA-AK-3465-01A-01D-0966-08	20519555	38692610	20436373	29	7038											
SAMD4B	55095	broad.mit.edu	37	19	39868378	39868378	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:39868378C>T	ENST00000314471.6	+	10	2393	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	SAMD4B_ENST00000598913.1_Missense_Mutation_p.P453L|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCACCAGCTCCAGCTCCCACT	0.657																																																0													44	45	45					19																	39868378		2203	4300	6503	SO:0001583	missense	55095				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1358C>T	19.37:g.39868378C>T	ENSP00000317224:p.Pro453Leu		A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	8.748	0.920575	0.17982	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.72	4.72	0.59763	.	0.532223	0.19871	N	0.104196	T	0.39886	0.1095	L	0.29908	0.895	0.49389	D	0.999789	B;B	0.26002	0.139;0.139	B;B	0.19666	0.026;0.026	T	0.18429	-1.0337	9	0.10111	T	0.7	.	10.2994	0.43644	0.1966:0.8034:0.0:0.0	.	453;453	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	L	453	.	ENSP00000317224:P453L	P	+	2	0	SAMD4B	44560218	0.027000	0.19231	0.950000	0.38849	0.272000	0.26649	0.630000	0.24553	2.449000	0.82847	0.467000	0.42956	CCA		0.657	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		T	39868378	C	T	39868378	3	4	113	1	0	0	0	0	1	0	0	0	13828	594	21	2	1380	2	SAMD4B	19	39868378	Missense_Mutation	SNP	C	TCGA-AK-3465-01A-01D-0966-08	1175768	39868378	19260605	30	7039											
ATP1A3	478	broad.mit.edu	37	19	42492233	42492233	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr19:42492233G>A	ENST00000302102.5	-	4	362	c.212C>T	c.(211-213)aCg>aTg	p.T71M	ATP1A3_ENST00000543770.1_Missense_Mutation_p.T82M|ATP1A3_ENST00000602133.1_Missense_Mutation_p.T41M|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000545399.1_Missense_Mutation_p.T84M	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	71					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGCGGTGGCGTGAGTGCGTT	0.632																																																0													109	112	111					19																	42492233		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.212C>T	19.37:g.42492233G>A	ENSP00000302397:p.Thr71Met		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982885	0.53827	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.09	4.09	0.47781	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	H	0.98721	4.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.981;0.986;0.995;0.992	D	0.95233	0.8344	10	0.87932	D	0	.	14.1703	0.65506	0.0:0.0:1.0:0.0	.	84;82;71;71	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	M	71;71;84;41;82;84	ENSP00000302397:T71M;ENSP00000411503:T71M;ENSP00000444688:T84M;ENSP00000437577:T82M	ENSP00000302397:T71M	T	-	2	0	ATP1A3	47184073	1.000000	0.71417	0.907000	0.35723	0.049000	0.14656	9.808000	0.99193	2.010000	0.58986	0.491000	0.48974	ACG		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		A	42492233	G	A	42492233	3	1	113	1	0	0	0	0	1	0	0	0	1130	1145	40	1	2909	1	ATP1A3	19	42492233	Missense_Mutation	SNP	G	TCGA-AK-3465-01A-01D-0966-08	2623855	42492233	16636750	31	7040											
TMC2	117532	broad.mit.edu	37	20	2592911	2592911	+	Silent	SNP	C	C	T	rs144876435		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr20:2592911C>T	ENST00000358864.1	+	13	1683	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	556					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGTTGGAACGAGAGTGTCC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		16762	0.001		0.0	False		,,,				2504	0.0															0								C		4,4402	8.1+/-20.4	0,4,2199	128	115	119		1668	-8	0.3	20	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	TMC2	NM_080751.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		556/907	2592911	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1668C>T	20.37:g.2592911C>T			Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	CCDS13029.2																																																																																				0.498	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			T	2592911	C	T	2592911	2	4	113	1	0	0	0	0	0	0	0	1	15990	535	19	1		1	TMC2	20	2592911	Silent	SNP	C	TCGA-AK-3465-01A-01D-0966-08		2592911	60432609	32	7041											
ASCC2	84164	broad.mit.edu	37	22	30189476	30189476	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:30189476G>T	ENST00000397771.2	-	18	1969	c.1792C>A	c.(1792-1794)Cca>Aca	p.P598T	ASCC2_ENST00000307790.3_Missense_Mutation_p.P598T|ASCC2_ENST00000542393.1_Missense_Mutation_p.P522T			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGCTGCAGTGGCACCTGCAAT	0.612																																																0													63	52	56					22																	30189476		2203	4300	6503	SO:0001583	missense	84164			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1792C>A	22.37:g.30189476G>T	ENSP00000380877:p.Pro598Thr		B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	g	6.453	0.451739	0.12223	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.08102	3.13;3.13;3.13	5.15	4.15	0.48705	.	0.299519	0.37178	N	0.002217	T	0.07818	0.0196	L	0.40543	1.245	0.36145	D	0.847057	B;B	0.11235	0.004;0.0	B;B	0.14578	0.011;0.001	T	0.18713	-1.0328	10	0.14656	T	0.56	-10.937	12.8138	0.57654	0.0:0.0:0.8365:0.1635	.	522;598	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	T	598;598;522	ENSP00000305502:P598T;ENSP00000380877:P598T;ENSP00000437570:P522T	ENSP00000305502:P598T	P	-	1	0	ASCC2	28519476	1.000000	0.71417	0.967000	0.41034	0.056000	0.15407	2.107000	0.41844	1.427000	0.47276	-0.121000	0.15023	CCA		0.612	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		T	30189476	G	T	30189476	3	4	113	1	0	0	0	0	1	0	0	0	1032	1203	42	4	497	4	ASCC2	22	30189476	Missense_Mutation	SNP	G	TCGA-AK-3465-01A-01D-0966-08		30189476	21115090	33	7042											
ELFN2	114794	broad.mit.edu	37	22	37770867	37770867	+	Silent	SNP	G	G	A	rs149957183		TCGA-AK-3465-01A-01D-0966-08	TCGA-AK-3465-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54f90a1-01c2-4cde-959e-bf3219673495	2ee3db04-cb72-4a8a-a66a-bd5784f1e01f	g.chr22:37770867G>A	ENST00000402918.2	-	3	1493	c.708C>T	c.(706-708)aaC>aaT	p.N236N	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	236	LRRCT.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGGTGATGGCGTTGAGGCTGT	0.677																																																0								G		0,4406		0,0,2203	33	43	40		708	-2.3	1	22	dbSNP_134	40	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ELFN2	NM_052906.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		236/821	37770867	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.708C>T	22.37:g.37770867G>A			Q96PY3	Silent	SNP	ENST00000402918.2	37	CCDS33642.1																																																																																				0.677	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		A	37770867	G	A	37770867	2	1	113	1	0	0	0	0	0	0	0	1	5060	1136	40	1		1	ELFN2	22	37770867	Silent	SNP	G	TCGA-AK-3465-01A-01D-0966-08	7581391	37770867	13533699	34	7043											
CSMD2	114784	hgsc.bcm.edu	37	1	34112388	34112388	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:34112388C>A	ENST00000373380.1	-	8	1473	c.1253G>T	c.(1252-1254)cGg>cTg	p.R418L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1545L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1505	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGAGAGTCCCGTCCGTCGTA	0.547																																																0													52	49	50					1																	34112388		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1253G>T	chr1.hg19:g.34112388C>A	ENSP00000362478:p.Arg418Leu		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.49	2.551842	0.45487	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.17370	2.28;2.28	5.95	2.84	0.33178	CUB (5);	0.303339	0.31747	N	0.007126	T	0.06142	0.0159	N	0.04387	-0.21	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.001;0.004;0.004	T	0.28267	-1.0049	10	0.23891	T	0.37	.	4.0978	0.09998	0.175:0.3786:0.3631:0.0833	.	418;1505;1545	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	L	1545;418	ENSP00000362479:R1545L;ENSP00000362478:R418L	ENSP00000241312:R1505L	R	-	2	0	CSMD2	33884975	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.988000	0.56951	0.856000	0.35383	0.655000	0.94253	CGG		0.547	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		A	34112388	C	A	34112388	3	1	114	1	0	0	0	0	1	0	0	0	3947	652	23	4	6113	4	CSMD2	1	34112388	Missense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08		34112388	215138233	1	7044											
SASS6	163786	hgsc.bcm.edu	37	1	100572938	100572938	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:100572938C>G	ENST00000287482.5	-	11	1458	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.E273Q	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	440					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ACCTCTTGCTCTTTAATTCGA	0.294																																																0													57	53	54					1																	100572938		2201	4289	6490	SO:0001583	missense	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1318G>C	chr1.hg19:g.100572938C>G	ENSP00000287482:p.Glu440Gln		D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	hg19	CCDS764.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812823	0.32053	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.29397	1.57;1.57	5.38	5.38	0.77491	.	0.047861	0.85682	D	0.000000	T	0.23451	0.0567	L	0.60455	1.87	0.58432	D	0.999999	P	0.41546	0.754	B	0.39339	0.297	T	0.02743	-1.1116	10	0.35671	T	0.21	-9.3422	19.1244	0.93376	0.0:1.0:0.0:0.0	.	440	Q6UVJ0	SAS6_HUMAN	Q	440;413;273	ENSP00000287482:E440Q;ENSP00000440169:E273Q	ENSP00000287482:E440Q	E	-	1	0	SASS6	100345526	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	5.050000	0.64251	2.515000	0.84797	0.585000	0.79938	GAG		0.294	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		G	100572938	C	G	100572938	3	3	114	1	0	0	0	0	1	0	0	0	13856	922	32	4	683	4	SASS6	1	100572938	Missense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08	66460550	100572938	148677683	2	7045											
RPTN	126638	hgsc.bcm.edu	37	1	152127802	152127802	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:152127802T>C	ENST00000316073.3	-	3	1837	c.1773A>G	c.(1771-1773)atA>atG	p.I591M		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	591	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTGCCCTTGTATTTCCCCAG	0.453																																																0													371	334	345					1																	152127802		1568	3582	5150	SO:0001583	missense	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1773A>G	chr1.hg19:g.152127802T>C	ENSP00000317895:p.Ile591Met		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	hg19	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	T	2.328	-0.353972	0.05173	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.13307	2.6	3.14	1.75	0.24633	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	P	0.41265	0.744	B	0.36608	0.229	T	0.42413	-0.9453	9	0.32370	T	0.25	0.0237	6.2084	0.20615	0.3116:0.0:0.0:0.6884	.	591	Q6XPR3	RPTN_HUMAN	M	591;246	ENSP00000317895:I591M	ENSP00000317895:I591M	I	-	3	3	RPTN	150394426	0.005000	0.15991	0.015000	0.15790	0.332000	0.28634	-0.725000	0.04942	0.119000	0.18210	0.450000	0.29827	ATA		0.453	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		C	152127802	T	C	152127802	3	2	114	1	0	0	0	0	1	0	0	0	13670	1628	57	3	585	3	RPTN	1	152127802	Missense_Mutation	SNP	T	TCGA-AL-3466-01A-01D-1252-08	51554864	152127802	97122819	3	7046											
FAM129A	116496	hgsc.bcm.edu	37	1	184767228	184767228	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:184767228C>A	ENST00000367511.3	-	13	1844	c.1651G>T	c.(1651-1653)Gat>Tat	p.D551Y	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	551					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGAGTTTCATCAAGCAGGATC	0.453																																																0													87	78	81					1																	184767228		2203	4300	6503	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1651G>T	chr1.hg19:g.184767228C>A	ENSP00000356481:p.Asp551Tyr		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	hg19	CCDS1364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.62|16.62	3.173955|3.173955	0.57692|0.57692	.|.	.|.	ENSG00000135842|ENSG00000135842	ENST00000367511|ENST00000417056	T|.	0.13307|.	2.6|.	5.37|5.37	4.44|4.44	0.53790|0.53790	.|.	0.408987|.	0.29225|.	N|.	0.012780|.	T|.	0.63189|.	0.2490|.	L|L	0.54323|0.54323	1.7|1.7	0.34170|0.34170	D|D	0.669652|0.669652	D;D|.	0.89917|.	0.986;1.0|.	P;D|.	0.73380|.	0.742;0.98|.	T|.	0.71794|.	-0.4485|.	10|.	0.72032|.	D|.	0.01|.	-7.0804|-7.0804	14.591|14.591	0.68365|0.68365	0.0:0.8548:0.1452:0.0|0.0:0.8548:0.1452:0.0	.|.	82;551|.	Q5TEY9;Q9BZQ8|.	.;NIBAN_HUMAN|.	Y|L	551|82	ENSP00000356481:D551Y|.	ENSP00000356481:D551Y|.	D|X	-|-	1|2	0|2	FAM129A|FAM129A	183033851|183033851	0.876000|0.876000	0.30132|0.30132	0.985000|0.985000	0.45067|0.45067	0.994000|0.994000	0.84299|0.84299	2.463000|2.463000	0.45058|0.45058	1.233000|1.233000	0.43693|0.43693	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.453	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			A	184767228	C	A	184767228	3	1	114	1	0	0	0	0	1	0	0	0	5438	826	29	4	1143	4	FAM129A	1	184767228	Missense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08	32639426	184767228	64483393	4	7047											
PTPN14	5784	hgsc.bcm.edu	37	1	214557259	214557259	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:214557259T>C	ENST00000366956.5	-	13	2133	c.1939A>G	c.(1939-1941)Aac>Gac	p.N647D	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	647					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACCATGCTGTTCATCACCTCC	0.662																																					Colon(92;557 1424 24372 34121 40073)											0													50	42	45					1																	214557259		2203	4300	6503	SO:0001583	missense	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1939A>G	chr1.hg19:g.214557259T>C	ENSP00000355923:p.Asn647Asp		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	hg19	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.600155	0.46423	.	.	ENSG00000152104	ENST00000366956	T	0.66815	-0.23	5.66	4.43	0.53597	.	0.373344	0.33217	N	0.005146	T	0.45458	0.1343	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.35525	-0.9785	10	0.62326	D	0.03	.	9.7306	0.40359	0.0:0.1:0.0:0.9	.	647	Q15678	PTN14_HUMAN	D	647	ENSP00000355923:N647D	ENSP00000355923:N647D	N	-	1	0	PTPN14	212623882	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	3.785000	0.55424	0.847000	0.35167	0.455000	0.32223	AAC		0.662	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		C	214557259	T	C	214557259	3	2	114	1	0	0	0	0	1	0	0	0	12789	1783	62	3	1652	3	PTPN14	1	214557259	Missense_Mutation	SNP	T	TCGA-AL-3466-01A-01D-1252-08	29790031	214557259	34693362	5	7048											
MOSC1	64757	hgsc.bcm.edu	37	1	220971317	220971317	+	Silent	SNP	G	G	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:220971317G>A	ENST00000366910.5	+	4	900	c.714G>A	c.(712-714)agG>agA	p.R238R	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	238	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CCAACTTCAGGCCCAATATTG	0.443																																																0													168	167	167					1																	220971317		2203	4300	6503	SO:0001819	synonymous_variant	64757			AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"MOCO sulphurase C-terminal domain containing 1"	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.714G>A	chr1.hg19:g.220971317G>A			A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Silent	SNP	ENST00000366910.5	hg19	CCDS1526.1	.	.	.	.	.	.	.	.	.	.	G	2.055	-0.416878	0.04766	.	.	ENSG00000186205	ENST00000407981	.	.	.	4.95	3.04	0.35103	.	.	.	.	.	T	0.47875	0.1469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39057	-0.9632	4	.	.	.	-19.1717	4.6342	0.12516	0.2726:0.1776:0.5497:0.0	.	.	.	.	T	147	.	.	A	+	1	0	MOSC1	219037940	0.990000	0.36364	0.996000	0.52242	0.079000	0.17450	0.098000	0.15189	1.211000	0.43351	0.655000	0.94253	GCC		0.443	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		A	220971317	G	A	220971317	2	1	114	1	0	0	0	0	0	0	0	1	9715	1194	42	2		2	MOSC1	1	220971317	Silent	SNP	G	TCGA-AL-3466-01A-01D-1252-08	6414058	220971317	28279304	6	7049											
SLC35F3	148641	hgsc.bcm.edu	37	1	234458910	234458910	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:234458910A>T	ENST00000366617.3	+	7	1415	c.1187A>T	c.(1186-1188)gAg>gTg	p.E396V	SLC35F3_ENST00000366618.3_Missense_Mutation_p.E465V			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	396					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AAGAAGGAGGAGCCTGCAGAG	0.587											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													74	73	74					1																	234458910		2203	4300	6503	SO:0001583	missense	148641				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.1187A>T	chr1.hg19:g.234458910A>T	ENSP00000355576:p.Glu396Val	2373	Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	hg19		.	.	.	.	.	.	.	.	.	.	A	25.5	4.643874	0.87859	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.53857	0.6;0.62	5.62	5.62	0.85841	.	0.214041	0.48767	D	0.000163	T	0.58623	0.2135	L	0.50333	1.59	0.51482	D	0.999922	D;D	0.57571	0.966;0.98	P;P	0.51229	0.543;0.663	T	0.61983	-0.6950	10	0.59425	D	0.04	-20.2302	15.7908	0.78364	1.0:0.0:0.0:0.0	.	396;465	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	V	465;396	ENSP00000355577:E465V;ENSP00000355576:E396V	ENSP00000355576:E396V	E	+	2	0	SLC35F3	232525533	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.954000	0.93051	2.132000	0.65825	0.402000	0.26972	GAG		0.587	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		T	234458910	A	T	234458910	3	4	114	1	0	0	0	0	1	0	0	0	14596	304	11	5	1424	5	SLC35F3	1	234458910	Missense_Mutation	SNP	A	TCGA-AL-3466-01A-01D-1252-08	13487593	234458910	14791711	7	7050											
RAB11FIP5	26056	hgsc.bcm.edu	37	2	73315269	73315269	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr2:73315269C>T	ENST00000258098.6	-	3	1717	c.1477G>A	c.(1477-1479)Gcc>Acc	p.A493T	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	493					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGTGGGGAGGCCCCCAGGATG	0.607																																																0													69	74	72					2																	73315269		2203	4300	6503	SO:0001583	missense	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1477G>A	chr2.hg19:g.73315269C>T	ENSP00000258098:p.Ala493Thr		O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	hg19	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217658	0.58560	.	.	ENSG00000135631	ENST00000258098	T	0.50548	0.74	4.52	4.52	0.55395	.	0.334564	0.25935	N	0.027344	T	0.50905	0.1643	N	0.19112	0.55	0.34421	D	0.697508	D;D	0.63880	0.993;0.993	D;D	0.74674	0.971;0.984	T	0.55780	-0.8087	10	0.23891	T	0.37	-11.0892	14.4444	0.67340	0.0:1.0:0.0:0.0	.	493;493	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	T	493	ENSP00000258098:A493T	ENSP00000258098:A493T	A	-	1	0	RAB11FIP5	73168777	0.002000	0.14202	0.992000	0.48379	0.966000	0.64601	-0.184000	0.09698	2.527000	0.85204	0.491000	0.48974	GCC		0.607	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		T	73315269	C	T	73315269	3	4	114	1	0	0	0	0	1	0	0	0	12903	739	26	2	496	2	RAB11FIP5	2	73315269	Missense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08		73315269	169884104	8	7051											
FAM124B	79843	hgsc.bcm.edu	37	2	225266233	225266233	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr2:225266233C>T	ENST00000409685.3	-	1	518	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	FAM124B_ENST00000243806.2_Missense_Mutation_p.V85I|FAM124B_ENST00000389874.3_Missense_Mutation_p.V85I	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	85								p.V85I(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GAGTCCAGGACGCGAAATAGC	0.552																																																2	Substitution - Missense(2)	endometrium(2)											59	57	58					2																	225266233		2203	4300	6503	SO:0001583	missense	79843			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.253G>A	chr2.hg19:g.225266233C>T	ENSP00000386895:p.Val85Ile		A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	hg19	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	4.854	0.158738	0.09236	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.46063	0.88;0.88;0.88	5.69	1.32	0.21799	.	0.311841	0.33691	N	0.004645	T	0.30510	0.0767	L	0.42686	1.345	0.09310	N	1	B;B	0.21452	0.056;0.004	B;B	0.17433	0.018;0.003	T	0.18871	-1.0323	10	0.44086	T	0.13	-7.8837	7.6061	0.28103	0.0:0.574:0.22:0.206	.	85;85	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	I	85	ENSP00000374524:V85I;ENSP00000386895:V85I;ENSP00000243806:V85I	ENSP00000243806:V85I	V	-	1	0	FAM124B	224974477	0.625000	0.27111	0.000000	0.03702	0.001000	0.01503	1.550000	0.36223	0.332000	0.23536	-0.137000	0.14449	GTC		0.552	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		T	225266233	C	T	225266233	3	4	114	1	0	0	0	0	1	0	0	0	5428	536	19	1	1213	1	FAM124B	2	225266233	Missense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08	151950964	225266233	17933140	9	7052											
PFKFB4	5210	hgsc.bcm.edu	37	3	48577177	48577177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr3:48577177C>A	ENST00000232375.3	-	5	518	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Nonsense_Mutation_p.E102*|PFKFB4_ENST00000416568.1_Nonsense_Mutation_p.E136*|PFKFB4_ENST00000536104.1_Nonsense_Mutation_p.E125*|PFKFB4_ENST00000545984.1_Missense_Mutation_p.E113D|PFKFB4_ENST00000383734.2_Nonsense_Mutation_p.E136*	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	136	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GCTCTCCGTTCTCGGGTGGTG	0.567																																																0													114	107	109					3																	48577177		2203	4300	6503	SO:0001587	stop_gained	5210			BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.406G>T	chr3.hg19:g.48577177C>A	ENSP00000232375:p.Glu136*		Q5S3G5|Q5XLC2|Q64EX5	Nonsense_Mutation	SNP	ENST00000232375.3	hg19	CCDS2771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.32|15.32	2.797337|2.797337	0.50208|0.50208	.|.	.|.	ENSG00000114268|ENSG00000114268	ENST00000545984|ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000452531;ENST00000412035	.|.	.|.	.|.	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.63307|.	0.2500|.	.|.	.|.	.|.	0.31708|0.31708	N|N	0.639831|0.639831	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71906|.	-0.4451|.	6|.	0.02654|0.87932	T|D	1|0	-15.7704|-15.7704	15.0132|15.0132	0.71565|0.71565	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	113|136;125;136;136;102;125;102	.|.	ENSP00000437844:E113D|ENSP00000232375:E136X	E|E	-|-	3|1	2|0	PFKFB4|PFKFB4	48552181|48552181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.769000|0.769000	0.43574|0.43574	7.645000|7.645000	0.83430|0.83430	2.419000|2.419000	0.82065|0.82065	0.467000|0.467000	0.42956|0.42956	GAG|GAA		0.567	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		A	48577177	C	A	48577177	4	1	114	1	0	0	0	0	0	1	0	0	11765	922	32	4	1043	4	PFKFB4	3	48577177	Nonsense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08		48577177	149445253	10	7053											
TKT	7086	hgsc.bcm.edu	37	3	53264627	53264627	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr3:53264627C>T	ENST00000462138.1	-	8	1041	c.953G>A	c.(952-954)cGc>cAc	p.R318H	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Missense_Mutation_p.R271H|TKT_ENST00000423525.2_Missense_Mutation_p.R318H|TKT_ENST00000423516.1_Missense_Mutation_p.R326H			P29401	TKT_HUMAN	transketolase	318					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GTAGGCCTTGCGGGTGGCTAT	0.587																																					Colon(133;1506 2347 35238 42177)											0													59	56	57					3																	53264627		2203	4300	6503	SO:0001583	missense	7086				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.953G>A	chr3.hg19:g.53264627C>T	ENSP00000417773:p.Arg318His		A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	hg19	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	C	35	5.563617	0.96527	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.69	5.69	0.88448	Transketolase-like, pyrimidine-binding domain (2);	0.047547	0.85682	D	0.000000	D	0.97763	0.9266	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.963;0.977;0.971	D	0.98701	1.0700	10	0.87932	D	0	-15.8701	19.8045	0.96525	0.0:1.0:0.0:0.0	.	326;235;318	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	H	318;318;326;271;152	ENSP00000417773:R318H;ENSP00000405455:R318H;ENSP00000391481:R326H;ENSP00000296289:R271H	ENSP00000296289:R271H	R	-	2	0	TKT	53239667	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.676000	0.91093	0.655000	0.94253	CGC		0.587	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			T	53264627	C	T	53264627	3	4	114	1	0	0	0	0	1	0	0	0	15939	768	27	1	946	1	TKT	3	53264627	Missense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08	4687450	53264627	144757803	11	7054											
PPP4R2	151987	hgsc.bcm.edu	37	3	73110176	73110176	+	Missense_Mutation	SNP	T	T	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr3:73110176T>A	ENST00000356692.5	+	5	637	c.384T>A	c.(382-384)aaT>aaA	p.N128K	PPP4R2_ENST00000394284.3_Missense_Mutation_p.N71K|EBLN2_ENST00000533473.1_5'Flank|PPP4R2_ENST00000295862.9_Missense_Mutation_p.N72K			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	128					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TATTGCAGAATGTGATGGTTG	0.259																																																0													102	96	98					3																	73110176		2199	4292	6491	SO:0001583	missense	151987			AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.384T>A	chr3.hg19:g.73110176T>A	ENSP00000349124:p.Asn128Lys		A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Missense_Mutation	SNP	ENST00000356692.5	hg19	CCDS2917.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417029	0.62511	.	.	ENSG00000163605	ENST00000356692;ENST00000488810;ENST00000394284;ENST00000295862	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.96	2.54	0.30619	.	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	M	0.86178	2.8	0.80722	D	1	P;P	0.39903	0.694;0.505	B;B	0.41374	0.353;0.355	T	0.59467	-0.7449	10	0.72032	D	0.01	.	9.3514	0.38140	0.0:0.1471:0.0:0.8529	.	71;128	Q9NY27-2;Q9NY27	.;PP4R2_HUMAN	K	128;128;71;72	ENSP00000349124:N128K;ENSP00000418750:N128K;ENSP00000377825:N71K;ENSP00000295862:N72K	ENSP00000295862:N72K	N	+	3	2	PPP4R2	73192866	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.134000	0.50538	0.329000	0.23460	-0.297000	0.09499	AAT		0.259	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		A	73110176	T	A	73110176	3	1	114	1	0	0	0	0	1	0	0	0	12409	1461	51	5	402	5	PPP4R2	3	73110176	Missense_Mutation	SNP	T	TCGA-AL-3466-01A-01D-1252-08	19845549	73110176	124912254	12	7055											
MED12L	116931	hgsc.bcm.edu	37	3	151072983	151072983	+	Missense_Mutation	SNP	C	C	T	rs200848773		TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr3:151072983C>T	ENST00000474524.1	+	16	2406	c.2368C>T	c.(2368-2370)Ctc>Ttc	p.L790F	MED12L_ENST00000273432.4_Missense_Mutation_p.L650F|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	790						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTCACTAAACTCCAGCTCCT	0.358																																																0													103	104	103					3																	151072983		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2368C>T	chr3.hg19:g.151072983C>T	ENSP00000417235:p.Leu790Phe		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	hg19	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	3.897	-0.022893	0.07634	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.71341	-0.56;-0.56	5.35	5.35	0.76521	.	0.059800	0.64402	D	0.000002	T	0.31918	0.0812	N	0.00186	-1.895	0.80722	D	1	B;B	0.15141	0.006;0.012	B;B	0.17098	0.017;0.012	T	0.46830	-0.9163	10	0.11182	T	0.66	-18.4403	12.407	0.55445	0.0:0.922:0.0:0.078	.	650;790	F8WAE6;Q86YW9	.;MD12L_HUMAN	F	790;650	ENSP00000417235:L790F;ENSP00000273432:L650F	ENSP00000273432:L650F	L	+	1	0	MED12L	152555673	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	3.177000	0.50871	2.656000	0.90262	0.650000	0.86243	CTC		0.358	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		T	151072983	C	T	151072983	3	4	114	1	0	0	0	0	1	0	0	0	9431	565	20	2	2430	2	MED12L	3	151072983	Missense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08	77962807	151072983	46949447	13	7056											
HAVCR1	26762	hgsc.bcm.edu	37	5	156482352	156482362	+	Frame_Shift_Del	DEL	AATAGCTTATA	AATAGCTTATA	-	rs111358310	byFrequency	TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	AATAGCTTATA	AATAGCTTATA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr5:156482352_156482362delAATAGCTTATA	ENST00000339252.3	-	2	761_771	c.229_239delTATAAGCTATT	c.(229-240)tataagctattgfs	p.YKLL77fs	HAVCR1_ENST00000523175.1_Frame_Shift_Del_p.YKLL77fs|HAVCR1_ENST00000544197.1_Frame_Shift_Del_p.YKLL77fs|HAVCR1_ENST00000522693.1_Frame_Shift_Del_p.YKLL77fs|HAVCR1_ENST00000425854.1_Frame_Shift_Del_p.YKLL77fs	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTCCCCCAATAGCTTATAGCGTGTGTCC	0.479																																																0																																										SO:0001589	frameshift_variant	26762			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.229_239delTATAAGCTATT	chr5.hg19:g.156482352_156482362delAATAGCTTATA	ENSP00000344844:p.Tyr77fs		O43656	Frame_Shift_Del	DEL	ENST00000339252.3	hg19	CCDS43392.1																																																																																				0.479	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			-	156482362	AATAGCTTATA	-	156482352	7	5	114	1	0	1	0	1	0	0	0	0	6975	131	5	0	883	0	HAVCR1	5	156482352	Frame_Shift_Del	DEL	AATAGCTTATA	TCGA-AL-3466-01A-01D-1252-08		156482352	24432908	14	7057											
HIST1H2BL	8340	hgsc.bcm.edu	37	6	27775403	27775403	+	Silent	SNP	C	C	T	rs141648774		TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr6:27775403C>T	ENST00000377401.2	-	1	306	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	94					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CGGTCTGGATCTCCCTGGAGG	0.617																																																0													92	94	93					6																	27775403		2203	4300	6503	SO:0001819	synonymous_variant	8340			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"Histones / Replication-dependent"	4748	protein-coding gene	gene with protein product		602800	"H2B histone family, member C", "histone 1, H2bl"	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.282G>A	chr6.hg19:g.27775403C>T			B2R5A3|Q52LW9	Silent	SNP	ENST00000377401.2	hg19	CCDS4625.1																																																																																				0.617	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519		T	27775403	C	T	27775403	2	4	114	1	0	0	0	0	0	0	0	1	7153	912	32	2		2	HIST1H2BL	6	27775403	Silent	SNP	C	TCGA-AL-3466-01A-01D-1252-08		27775403	143339664	15	7058											
C6orf142	90523	hgsc.bcm.edu	37	6	53989447	53989447	+	Silent	SNP	T	T	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr6:53989447T>C	ENST00000274897.5	+	3	509	c.396T>C	c.(394-396)atT>atC	p.I132I	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000514921.1_Silent_p.I132I|MLIP_ENST00000509997.1_Silent_p.I80I|MLIP_ENST00000370876.2_Silent_p.I70I|MLIP_ENST00000502396.1_Silent_p.I143I|MLIP_ENST00000370877.2_Silent_p.I80I|MLIP_ENST00000358276.5_Silent_p.I126I	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	132						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ATGTCCTTATTGTGGACTCCG	0.502																																																0													100	99	100					6																	53989447		2203	4300	6503	SO:0001819	synonymous_variant	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.396T>C	chr6.hg19:g.53989447T>C			B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	hg19	CCDS4954.1																																																																																				0.502	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		C	53989447	T	C	53989447	2	2	114	1	0	0	0	0	0	0	0	1	2335	1800	63	3		3	C6orf142	6	53989447	Silent	SNP	T	TCGA-AL-3466-01A-01D-1252-08	26214044	53989447	117125620	16	7059											
NOS3	4846	hgsc.bcm.edu	37	7	150698913	150698913	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr7:150698913G>A	ENST00000484524.1	+	12	1507	c.1507G>A	c.(1507-1509)Gtg>Atg	p.V503M	NOS3_ENST00000297494.3_Missense_Mutation_p.V503M|NOS3_ENST00000461406.1_Missense_Mutation_p.V297M|NOS3_ENST00000467517.1_Missense_Mutation_p.V503M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGCAGCGCCGTGAAGATCTC	0.642																																																0													53	51	52					7																	150698913		2203	4300	6503	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1507G>A	chr7.hg19:g.150698913G>A	ENSP00000420215:p.Val503Met		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	hg19	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907322	0.72868	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.17691	4.46;4.33;2.67;2.26	4.8	4.8	0.61643	.	0.000000	0.48767	D	0.000162	T	0.48660	0.1512	M	0.89414	3.03	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.98;0.98;0.991;0.993;0.991	T	0.58869	-0.7560	10	0.87932	D	0	-4.5235	15.7394	0.77876	0.0:0.0:1.0:0.0	.	503;503;503;297;503	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	503;297;503;503	ENSP00000297494:V503M;ENSP00000417143:V297M;ENSP00000420215:V503M;ENSP00000420551:V503M	ENSP00000297494:V503M	V	+	1	0	NOS3	150329846	1.000000	0.71417	0.946000	0.38457	0.522000	0.34438	9.261000	0.95576	2.376000	0.81061	0.655000	0.94253	GTG		0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		A	150698913	G	A	150698913	3	1	114	1	0	0	0	0	1	0	0	0	10546	1145	40	1	1553	1	NOS3	7	150698913	Missense_Mutation	SNP	G	TCGA-AL-3466-01A-01D-1252-08		150698913	8439750	17	7060											
OXR1	55074	hgsc.bcm.edu	37	8	107752622	107752622	+	Missense_Mutation	SNP	T	T	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr8:107752622T>A	ENST00000442977.2	+	13	2317	c.2218T>A	c.(2218-2220)Tat>Aat	p.Y740N	OXR1_ENST00000312046.6_Missense_Mutation_p.Y705N|OXR1_ENST00000445937.1_Missense_Mutation_p.Y712N|OXR1_ENST00000531443.1_Missense_Mutation_p.Y712N|OXR1_ENST00000452423.2_Missense_Mutation_p.Y160N|OXR1_ENST00000297447.6_Missense_Mutation_p.Y109N|OXR1_ENST00000521592.1_De_novo_Start_OutOfFrame|OXR1_ENST00000517566.2_Missense_Mutation_p.Y739N|OXR1_ENST00000449762.2_Missense_Mutation_p.Y82N	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	740	TLD.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GACTCTTGTTTATGGTACTGG	0.383																																																0													129	119	122					8																	107752622		2203	4300	6503	SO:0001583	missense	55074			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.2218T>A	chr8.hg19:g.107752622T>A	ENSP00000405424:p.Tyr740Asn		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	hg19	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.4|25.4	4.629261|4.629261	0.87560|0.87560	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000519415|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046;ENST00000449762;ENST00000297447	.|T;T;T;T;T;T;T;T	.|0.54279	.|0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.48|5.48	5.48|5.48	0.80851|0.80851	.|TLDc (2);	.|0.054965	.|0.85682	.|D	.|0.000000	T|T	0.82204|0.82204	0.4986|0.4986	H|H	0.97540|0.97540	4.025|4.025	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.999;0.999;1.0;0.999;0.992;0.998	.|D;D;D;D;D;D	.|0.81914	.|0.991;0.987;0.995;0.977;0.942;0.983	D|D	0.88810|0.88810	0.3291|0.3291	5|10	.|0.87932	.|D	.|0	-15.1603|-15.1603	15.5747|15.5747	0.76368|0.76368	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|705;740;739;82;109;712	.|Q8N573-2;Q8N573;D3HIS6;B7Z8N5;Q8N573-4;Q8N573-5	.|.;OXR1_HUMAN;.;.;.;.	L|N	383|712;712;739;160;740;705;82;109	.|ENSP00000402918:Y712N;ENSP00000431966:Y712N;ENSP00000429205:Y739N;ENSP00000395032:Y160N;ENSP00000405424:Y740N;ENSP00000311026:Y705N;ENSP00000408659:Y82N;ENSP00000297447:Y109N	.|ENSP00000297447:Y109N	F|Y	+|+	3|1	2|0	OXR1|OXR1	107821798|107821798	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.066000|2.066000	0.61787|0.61787	0.533000|0.533000	0.62120|0.62120	TTT|TAT		0.383	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		A	107752622	T	A	107752622	3	1	114	1	0	0	0	0	1	0	0	0	11336	1754	61	5	2383	5	OXR1	8	107752622	Missense_Mutation	SNP	T	TCGA-AL-3466-01A-01D-1252-08		107752622	38611400	18	7061											
AKNA	80709	hgsc.bcm.edu	37	9	117139726	117139726	+	Missense_Mutation	SNP	T	T	C	rs371041163		TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr9:117139726T>C	ENST00000307564.4	-	3	522	c.361A>G	c.(361-363)Act>Gct	p.T121A	AKNA_ENST00000223791.3_5'Flank|AKNA_ENST00000374088.3_Missense_Mutation_p.T121A|AKNA_ENST00000374075.5_Missense_Mutation_p.T40A|AKNA_ENST00000312033.3_Missense_Mutation_p.T121A	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	121					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCCTCTTCAGTCATGTCCAGC	0.602																																																0													44	45	45					9																	117139726		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.361A>G	chr9.hg19:g.117139726T>C	ENSP00000303769:p.Thr121Ala		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	hg19	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.512748	0.64522	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.32272	2.69;2.69;2.7;1.46	4.58	0.597	0.17504	.	0.519095	0.16285	N	0.221162	T	0.18759	0.0450	L	0.27053	0.805	0.80722	D	1	B;B;B	0.33807	0.22;0.075;0.426	B;B;B	0.37692	0.208;0.035;0.256	T	0.06954	-1.0798	10	0.34782	T	0.22	-4.4222	3.703	0.08390	0.3391:0.1032:0.0:0.5577	.	121;121;40	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	A	121;121;40;121;121	ENSP00000303769:T121A;ENSP00000363201:T121A;ENSP00000363188:T40A;ENSP00000309222:T121A	ENSP00000303769:T121A	T	-	1	0	AKNA	116179547	0.975000	0.34042	0.174000	0.22961	0.155000	0.21991	0.491000	0.22419	0.172000	0.19760	0.379000	0.24179	ACT		0.602	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		C	117139726	T	C	117139726	3	2	114	1	0	0	0	0	1	0	0	0	463	1667	58	3	4038	3	AKNA	9	117139726	Missense_Mutation	SNP	T	TCGA-AL-3466-01A-01D-1252-08		117139726	24073705	19	7062											
DBC1	1620	hgsc.bcm.edu	37	9	121930244	121930244	+	Silent	SNP	C	C	T	rs370346617		TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr9:121930244C>T	ENST00000265922.3	-	8	1865	c.1404G>A	c.(1402-1404)tcG>tcA	p.S468S	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	468					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CGCTCCGCTCCGAGTCCACGT	0.592																																																0								C		1,4405	2.1+/-5.4	0,1,2202	149	122	131		1404	0.4	1	9		131	0,8600		0,0,4300	no	coding-synonymous	DBC1	NM_014618.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		468/762	121930244	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1404G>A	chr9.hg19:g.121930244C>T			Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	hg19	CCDS6822.1																																																																																				0.592	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		T	121930244	C	T	121930244	2	4	114	1	0	0	0	0	0	0	0	1	4249	639	23	1		1	DBC1	9	121930244	Silent	SNP	C	TCGA-AL-3466-01A-01D-1252-08	4790518	121930244	19283187	20	7063											
GTPBP4	23560	hgsc.bcm.edu	37	10	1043230	1043230	+	Silent	SNP	G	G	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr10:1043230G>A	ENST00000360803.4	+	5	625	c.543G>A	c.(541-543)aaG>aaA	p.K181K	GTPBP4_ENST00000538293.1_Silent_p.K65K|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.K134K	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	181	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		ATGTTGGGAAGTCCAGCTTCA	0.443																																																0													180	169	172					10																	1043230		2203	4300	6503	SO:0001819	synonymous_variant	23560			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.543G>A	chr10.hg19:g.1043230G>A			B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	hg19	CCDS31132.1																																																																																				0.443	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		A	1043230	G	A	1043230	2	1	114	1	0	0	0	0	0	0	0	1	6884	1020	36	2		2	GTPBP4	10	1043230	Silent	SNP	G	TCGA-AL-3466-01A-01D-1252-08		1043230	134491517	21	7064											
PIK3C2A	5286	hgsc.bcm.edu	37	11	17190402	17190402	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr11:17190402G>A	ENST00000265970.7	-	1	886	c.887C>T	c.(886-888)tCa>tTa	p.S296L	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	296					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TAGCAAACTTGAAACATTTTT	0.393																																																0													176	170	172					11																	17190402		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.887C>T	chr11.hg19:g.17190402G>A	ENSP00000265970:p.Ser296Leu		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	hg19	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239126	0.22711	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.62639	0.01	5.49	5.49	0.81192	.	1.281530	0.04815	N	0.435973	T	0.54838	0.1883	N	0.19112	0.55	0.54753	D	0.999987	B;B	0.26258	0.145;0.0	B;B	0.21708	0.036;0.0	T	0.09422	-1.0675	10	0.51188	T	0.08	-3.6563	15.6995	0.77533	0.0:0.137:0.863:0.0	.	296;296	F5H5W9;O00443	.;P3C2A_HUMAN	L	296	ENSP00000265970:S296L	ENSP00000265970:S296L	S	-	2	0	PIK3C2A	17146978	0.228000	0.23718	0.359000	0.25824	0.485000	0.33311	1.793000	0.38764	2.570000	0.86706	0.563000	0.77884	TCA		0.393	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		A	17190402	G	A	17190402	3	1	114	1	0	0	0	0	1	0	0	0	11911	1294	45	2	4301	2	PIK3C2A	11	17190402	Missense_Mutation	SNP	G	TCGA-AL-3466-01A-01D-1252-08		17190402	117816114	22	7065											
MS4A12	54860	hgsc.bcm.edu	37	11	60268545	60268545	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr11:60268545C>T	ENST00000016913.4	+	3	361	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	102						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGGATTGATGCACATTGGTTT	0.373																																																0													292	286	288					11																	60268545		2203	4300	6503	SO:0001583	missense	54860			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.304C>T	chr11.hg19:g.60268545C>T	ENSP00000016913:p.His102Tyr		F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	hg19	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277327	0.40294	.	.	ENSG00000071203	ENST00000016913;ENST00000530007	T;T	0.58506	4.27;0.33	5.14	5.14	0.70334	.	0.454353	0.25506	N	0.030212	T	0.66177	0.2763	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.62243	-0.6895	10	0.02654	T	1	.	14.0807	0.64919	0.0:1.0:0.0:0.0	.	102	Q9NXJ0	M4A12_HUMAN	Y	102	ENSP00000016913:H102Y;ENSP00000434783:H102Y	ENSP00000016913:H102Y	H	+	1	0	MS4A12	60025121	0.679000	0.27596	0.572000	0.28498	0.095000	0.18619	2.340000	0.43974	2.375000	0.81037	0.462000	0.41574	CAC		0.373	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			T	60268545	C	T	60268545	3	4	114	1	0	0	0	0	1	0	0	0	9858	710	25	2	310	2	MS4A12	11	60268545	Missense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08	43078143	60268545	74737971	23	7066											
VWCE	220001	hgsc.bcm.edu	37	11	61026692	61026692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr11:61026692C>A	ENST00000335613.5	-	20	2709	c.2323G>T	c.(2323-2325)Gag>Tag	p.E775*	VWCE_ENST00000535710.1_Nonsense_Mutation_p.E240*	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	775						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACAGGGGCCTCAGTGTCTCCA	0.567																																																0													40	42	41					11																	61026692		2203	4299	6502	SO:0001587	stop_gained	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2323G>T	chr11.hg19:g.61026692C>A	ENSP00000334186:p.Glu775*		A5PKV0|Q7Z7L6|Q86WK8	Nonsense_Mutation	SNP	ENST00000335613.5	hg19	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	37	6.304859	0.97458	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	.	.	.	4.63	-0.214	0.13161	.	0.840398	0.09913	N	0.739540	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	3.1614	0.06521	0.1831:0.4481:0.0:0.3689	.	.	.	.	X	775;240	.	ENSP00000334186:E775X	E	-	1	0	VWCE	60783268	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.666000	0.05280	0.047000	0.15862	-0.982000	0.02568	GAG		0.567	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		A	61026692	C	A	61026692	4	1	114	1	0	0	0	0	0	1	0	0	17250	835	29	4	548	4	VWCE	11	61026692	Nonsense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08	758147	61026692	73979824	24	7067											
M6PR	4074	hgsc.bcm.edu	37	12	9096395	9096395	+	Splice_Site	SNP	A	A	G			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr12:9096395A>G	ENST00000000412.3	-	4	922		c.e4+1			NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)						endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	AGGGTGCCTCACCGCTAGGGT	0.527																																																0													79	64	69					12																	9096395		2203	4300	6503	SO:0001630	splice_region_variant	4074				CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.453+1T>C	chr12.hg19:g.9096395A>G			A8K528|D3DUV5	Splice_Site	SNP	ENST00000000412.3	hg19	CCDS8598.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111457	0.77210	.	.	ENSG00000003056	ENST00000000412;ENST00000537621	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6658	0.77227	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	M6PR	8987662	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.075000	0.76798	2.191000	0.70037	0.528000	0.53228	.		0.527	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1		Intron	G	9096395	A	G	9096395	5	3	114	1	0	0	0	0	0	0	1	0	9142	173	6	3	394	3	M6PR	12	9096395	Splice_Site	SNP	A	TCGA-AL-3466-01A-01D-1252-08		9096395	124755500	25	7068											
MEIS2	4212	hgsc.bcm.edu	37	15	37184626	37184626	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr15:37184626C>A	ENST00000561208.1	-	12	1600	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.Q387H|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.Q387H|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000424352.2_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	394	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TAGGACCACCCTGAGAAACGT	0.458																																																0													187	188	188					15																	37184626		2201	4297	6498	SO:0001583	missense	4212			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1182G>T	chr15.hg19:g.37184626C>A	ENSP00000453793:p.Gln394His		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	hg19	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645203	0.29246	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766	D;D	0.86627	-2.15;-2.15	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	N	0.12182	0.205	0.80722	D	1	B;B;B;B	0.13145	0.001;0.002;0.001;0.007	B;B;B;B	0.13407	0.002;0.002;0.002;0.009	T	0.71087	-0.4694	10	0.22706	T	0.39	-1.914	18.9968	0.92817	0.0:1.0:0.0:0.0	.	387;394;374;90	O14770-4;O14770;B7Z6F6;Q6V703	.;MEIS2_HUMAN;.;.	H	394;387;387	ENSP00000341400:Q387H;ENSP00000372216:Q387H	ENSP00000326296:Q394H	Q	-	3	2	MEIS2	34971918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.801000	0.69115	2.705000	0.92388	0.655000	0.94253	CAG		0.458	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		A	37184626	C	A	37184626	3	1	114	1	0	0	0	0	1	0	0	0	9470	680	24	4	255	4	MEIS2	15	37184626	Missense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08		37184626	65346766	26	7069											
CRISPLD2	83716	hgsc.bcm.edu	37	16	84940197	84940197	+	Silent	SNP	G	G	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr16:84940197G>A	ENST00000262424.5	+	15	1667	c.1443G>A	c.(1441-1443)ctG>ctA	p.L481L	CRISPLD2_ENST00000567845.1_Silent_p.L480L	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	481	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TTTTCAGCCTGGGGACTCCTC	0.597																																																0													54	58	57					16																	84940197		2199	4300	6499	SO:0001819	synonymous_variant	83716			AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.1443G>A	chr16.hg19:g.84940197G>A			D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	hg19	CCDS10949.1																																																																																				0.597	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		A	84940197	G	A	84940197	2	1	114	1	0	0	0	0	0	0	0	1	3885	1335	47	2		2	CRISPLD2	16	84940197	Silent	SNP	G	TCGA-AL-3466-01A-01D-1252-08		84940197	5414556	27	7070											
NGFR	4804	hgsc.bcm.edu	37	17	47588006	47588006	+	Silent	SNP	G	G	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr17:47588006G>T	ENST00000172229.3	+	4	926	c.801G>T	c.(799-801)gtG>gtT	p.V267V	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Silent_p.V173V	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	267					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TGGGCCTTGTGGCCTACATAG	0.577																																																0													112	101	105					17																	47588006		2203	4300	6503	SO:0001819	synonymous_variant	4804			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.801G>T	chr17.hg19:g.47588006G>T			B2R961|B4E096	Silent	SNP	ENST00000172229.3	hg19	CCDS11549.1																																																																																				0.577	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			T	47588006	G	T	47588006	2	4	114	1	0	0	0	0	0	0	0	1	10398	1335	47	4		4	NGFR	17	47588006	Silent	SNP	G	TCGA-AL-3466-01A-01D-1252-08		47588006	33607204	28	7071											
KIAA1632	57724	hgsc.bcm.edu	37	18	43514887	43514888	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr18:43514887_43514888insA	ENST00000282041.5	-	11	2178_2179	c.2144_2145insT	c.(2143-2145)ctgfs	p.L715fs		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	715					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTTGCACAGACAGAGTCCCAAA	0.495																																																0																																										SO:0001589	frameshift_variant	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2145dupT	chr18.hg19:g.43514888_43514888dupA	ENSP00000282041:p.Leu715fs		A2BDF3|Q9H8C8	Frame_Shift_Ins	INS	ENST00000282041.5	hg19	CCDS11926.2																																																																																				0.495	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		A	43514888	-	A	43514887	7	5	114	1	0	1	1	0	0	0	0	0	8251	465	17	0	5730	0	KIAA1632	18	43514887	Frame_Shift_Ins	INS	-	TCGA-AL-3466-01A-01D-1252-08		43514887	34562361	29	7072											
MAOB	4129	hgsc.bcm.edu	37	X	43655071	43655071	+	Missense_Mutation	SNP	C	C	A	rs143144504		TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chrX:43655071C>A	ENST00000378069.4	-	7	830	c.683G>T	c.(682-684)cGa>cTa	p.R228L	MAOB_ENST00000536181.1_Missense_Mutation_p.R212L|MAOB_ENST00000538942.1_Missense_Mutation_p.R212L|MAOB_ENST00000487544.1_5'Flank	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	228					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	CAGCTTCACTCGGTCTCCAAG	0.478																																																0													152	126	135					X																	43655071		2203	4300	6503	SO:0001583	missense	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.683G>T	chrX.hg19:g.43655071C>A	ENSP00000367309:p.Arg228Leu		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	hg19	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420375	0.42918	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	T;T;T	0.10477	2.87;2.87;2.87	5.29	3.53	0.40419	Amine oxidase (1);	0.127637	0.53938	D	0.000045	T	0.16171	0.0389	M	0.84683	2.71	0.58432	D	0.999996	B;B	0.23316	0.083;0.007	B;B	0.25140	0.058;0.037	T	0.01810	-1.1269	10	0.40728	T	0.16	-3.8481	7.0564	0.25102	0.1391:0.7088:0.0:0.1521	.	212;228	B7Z5H3;P27338	.;AOFB_HUMAN	L	228;212;212	ENSP00000367309:R228L;ENSP00000441613:R212L;ENSP00000442240:R212L	ENSP00000367309:R228L	R	-	2	0	MAOB	43540015	0.561000	0.26578	0.751000	0.31187	0.638000	0.38207	1.705000	0.37867	0.550000	0.28991	0.529000	0.55759	CGA		0.478	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		A	43655071	C	A	43655071	3	1	114	1	0	0	0	0	1	0	0	0	9228	884	31	4	915	4	MAOB	23	43655071	Missense_Mutation	SNP	C	TCGA-AL-3466-01A-01D-1252-08		43655071	111615489	30	7073											
AMD1	262	hgsc.bcm.edu	37	6	111208734	111208734	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr6:111208734A>G	ENST00000368885.3	+	2	473	c.137A>G	c.(136-138)gAt>gGt	p.D46G	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Intron|AMD1_ENST00000368876.1_5'UTR|AMD1_ENST00000368882.3_Intron	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	46					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	CTTTTGAAGGATGTGCAATGT	0.353																																																0													180	175	177					6																	111208734		2203	4300	6503	SO:0001583	missense	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.137A>G	chr6.hg19:g.111208734A>G	ENSP00000357880:p.Asp46Gly		E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	hg19	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020888	0.35606	.	.	ENSG00000123505	ENST00000368885	.	.	.	5.46	4.31	0.51392	S-adenosylmethionine decarboxylase, core (2);	0.184022	0.56097	N	0.000026	T	0.18002	0.0432	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.16722	0.016	T	0.06391	-1.0829	9	0.21014	T	0.42	.	11.2686	0.49124	0.9284:0.0:0.0716:0.0	.	46	P17707	DCAM_HUMAN	G	46	.	ENSP00000357880:D46G	D	+	2	0	AMD1	111315427	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.803000	0.91915	1.021000	0.39600	0.482000	0.46254	GAT		0.353	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			G	111208734	A	G	111208734	3	3	115	1	0	0	0	0	1	0	0	0	566	333	12	3	143	3	AMD1	6	111208734	Missense_Mutation	SNP	A	TCGA-AL-3467-01A-01D-1252-08		111208734	59906333	1	7074											
SNX13	23161	hgsc.bcm.edu	37	7	17836512	17836512	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr7:17836512T>C	ENST00000409389.1	-	25	2769	c.2597A>G	c.(2596-2598)gAt>gGt	p.D866G	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.D855G			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	866					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AATACTTTTATCTCTGCATGG	0.318																																																0													186	172	176					7																	17836512		1832	4093	5925	SO:0001583	missense	23161			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2597A>G	chr7.hg19:g.17836512T>C	ENSP00000386705:p.Asp866Gly		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	hg19		.	.	.	.	.	.	.	.	.	.	T	24.8	4.576015	0.86645	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.30714	1.52;1.52	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.65498	2.005	0.80722	D	1	D;P;D	0.67145	0.996;0.943;0.995	D;P;D	0.67548	0.952;0.867;0.94	T	0.55509	-0.8130	10	0.59425	D	0.04	-15.4175	15.4601	0.75349	0.0:0.0:0.0:1.0	.	652;866;855	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	G	866;855;903	ENSP00000386705:D866G;ENSP00000398789:D855G	ENSP00000242044:D903G	D	-	2	0	SNX13	17803037	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.046000	0.60703	0.455000	0.32223	GAT		0.318	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		C	17836512	T	C	17836512	3	2	115	1	0	0	0	0	1	0	0	0	14890	1435	50	3	317	3	SNX13	7	17836512	Missense_Mutation	SNP	T	TCGA-AL-3467-01A-01D-1252-08		17836512	141302151	2	7075											
BRAF	673	hgsc.bcm.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)											112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	chr7.hg19:g.140453136A>T	ENSP00000288602:p.Val600Glu		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	hg19	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		T	140453136	A	T	140453136	3	4	115	1	0	0	0	0	1	0	0	0	1498	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-AL-3467-01A-01D-1252-08	122616624	140453136	18685527	3	7076											
GYLTL1B	120071	hgsc.bcm.edu	37	11	45948105	45948105	+	Missense_Mutation	SNP	A	A	C			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr11:45948105A>C	ENST00000531526.1	+	9	1232	c.1121A>C	c.(1120-1122)gAg>gCg	p.E374A	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.E101A|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.E343A|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.E343A|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.E374A|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.E374A	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	374					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTGCGGAGAGAGCTCTTTGTG	0.567																																																0													72	74	74					11																	45948105		2203	4299	6502	SO:0001583	missense	120071				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1121A>C	chr11.hg19:g.45948105A>C	ENSP00000432869:p.Glu374Ala		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	hg19	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.148701	0.57151	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139;ENST00000534410	T;T;T;D;T;T	0.83419	0.88;0.87;0.87;-1.72;0.87;0.88	5.45	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.80854	0.4703	M	0.66939	2.045	0.80722	D	1	P;B;B	0.36027	0.533;0.204;0.102	B;B;B	0.36418	0.224;0.099;0.068	T	0.79135	-0.1928	10	0.52906	T	0.07	-26.8748	11.3948	0.49836	0.9288:0.0:0.0712:0.0	.	343;343;374	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	A	343;374;374;101;374;343;35	ENSP00000431932:E343A;ENSP00000432869:E374A;ENSP00000385235:E374A;ENSP00000374618:E101A;ENSP00000324570:E374A;ENSP00000445044:E343A	ENSP00000324570:E374A	E	+	2	0	GYLTL1B	45904681	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.158000	0.77470	0.909000	0.36697	-0.411000	0.06167	GAG		0.567	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		C	45948105	A	C	45948105	3	2	115	1	0	0	0	0	1	0	0	0	6909	304	11	5	1151	5	GYLTL1B	11	45948105	Missense_Mutation	SNP	A	TCGA-AL-3467-01A-01D-1252-08		45948105	89058411	4	7077											
CPNE6	9362	hgsc.bcm.edu	37	14	24544466	24544466	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr14:24544466C>A	ENST00000397016.2	+	9	1069	c.758C>A	c.(757-759)aCg>aAg	p.T253K	CPNE6_ENST00000537691.1_Missense_Mutation_p.T308K|CPNE6_ENST00000216775.2_Missense_Mutation_p.T253K	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	253					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CAGGAAGGGACGGCAAACCCT	0.567																																																0													111	106	107					14																	24544466		2203	4300	6503	SO:0001583	missense	9362			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.758C>A	chr14.hg19:g.24544466C>A	ENSP00000380211:p.Thr253Lys		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	hg19	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	3.945	-0.013372	0.07727	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.06294	3.32;3.34;3.34	5.13	5.13	0.70059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	T	0.03783	0.0107	N	0.05487	-0.04	0.21020	N	0.999808	P;B	0.39326	0.668;0.192	B;B	0.40901	0.343;0.122	T	0.39165	-0.9627	10	0.05721	T	0.95	-31.3802	13.9546	0.64140	0.0:1.0:0.0:0.0	.	308;253	F5GXN1;O95741	.;CPNE6_HUMAN	K	308;253;253	ENSP00000440077:T308K;ENSP00000380211:T253K;ENSP00000216775:T253K	ENSP00000216775:T253K	T	+	2	0	CPNE6	23614306	0.908000	0.30866	0.997000	0.53966	0.900000	0.52787	0.035000	0.13797	2.676000	0.91093	0.467000	0.42956	ACG		0.567	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			A	24544466	C	A	24544466	3	1	115	1	0	0	0	0	1	0	0	0	3818	536	19	4	784	4	CPNE6	14	24544466	Missense_Mutation	SNP	C	TCGA-AL-3467-01A-01D-1252-08		24544466	82805074	5	7078											
NPAS3	64067	hgsc.bcm.edu	37	14	34263109	34263109	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr14:34263109A>G	ENST00000356141.4	+	10	1160	c.1160A>G	c.(1159-1161)aAt>aGt	p.N387S	NPAS3_ENST00000346562.2_Missense_Mutation_p.N355S|NPAS3_ENST00000548645.1_Missense_Mutation_p.N357S|NPAS3_ENST00000357798.5_Missense_Mutation_p.N374S|NPAS3_ENST00000551492.1_Missense_Mutation_p.N392S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	387	PAC.|PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCAGTGCTGAATAAGGGTCAG	0.368																																																0													107	102	103					14																	34263109		2203	4300	6503	SO:0001583	missense	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1160A>G	chr14.hg19:g.34263109A>G	ENSP00000348460:p.Asn387Ser		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	hg19	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.085130	0.36758	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32	5.79	5.79	0.91817	PAS fold-3 (1);PAS (2);	0.000000	0.85682	D	0.000000	T	0.10766	0.0263	N	0.04297	-0.235	0.80722	D	1	P;B;P;P	0.35542	0.508;0.351;0.508;0.508	B;B;B;B	0.37304	0.234;0.246;0.234;0.234	T	0.31696	-0.9934	10	0.39692	T	0.17	.	16.1299	0.81422	1.0:0.0:0.0:0.0	.	357;387;355;374	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	S	364;392;355;357;387;374	ENSP00000448373:N364S;ENSP00000450392:N392S;ENSP00000319610:N355S;ENSP00000448916:N357S;ENSP00000348460:N387S;ENSP00000350446:N374S	ENSP00000319610:N355S	N	+	2	0	NPAS3	33332860	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.292000	0.72725	2.213000	0.71641	0.455000	0.32223	AAT		0.368	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			G	34263109	A	G	34263109	3	3	115	1	0	0	0	0	1	0	0	0	10566	101	4	3	1253	3	NPAS3	14	34263109	Missense_Mutation	SNP	A	TCGA-AL-3467-01A-01D-1252-08	9718643	34263109	73086431	6	7079											
GCOM1	100820829	hgsc.bcm.edu	37	15	57922023	57922023	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr15:57922023C>G	ENST00000267853.5	+	6	743	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	GCOM1_ENST00000587652.1_Missense_Mutation_p.Q217E|GCOM1_ENST00000396180.1_Missense_Mutation_p.Q186E|GCOM1_ENST00000380569.2_Missense_Mutation_p.Q217E|GCOM1_ENST00000572390.1_Missense_Mutation_p.Q217E|GCOM1_ENST00000380560.2_Missense_Mutation_p.Q148E|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Missense_Mutation_p.Q217E|GCOM1_ENST00000574161.1_Missense_Mutation_p.Q217E|MYZAP_ENST00000380565.4_Missense_Mutation_p.Q217E|GCOM1_ENST00000380561.2_Missense_Mutation_p.Q186E			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	217					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											GGAGGTAGCGCAAGTTGAAAA	0.413																																																0													95	90	92					15																	57922023		2192	4292	6484	SO:0001583	missense	145781			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.649C>G	chr15.hg19:g.57922023C>G	ENSP00000267853:p.Gln217Glu		D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	hg19	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841141	0.16891	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.43	3.54	0.40534	.	0.231577	0.44688	D	0.000424	T	0.37652	0.1011	L	0.56769	1.78	0.43326	D	0.995354	P;P;P;B	0.43024	0.544;0.798;0.544;0.402	B;B;B;B	0.44044	0.346;0.439;0.346;0.346	T	0.14172	-1.0482	10	0.13108	T	0.6	-7.7731	7.7864	0.29095	0.2881:0.6345:0.0:0.0774	.	217;217;217;217	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	E	217;186;186;148;217;217;217	ENSP00000369943:Q217E;ENSP00000369935:Q186E;ENSP00000379483:Q186E;ENSP00000369933:Q148E;ENSP00000267853:Q217E;ENSP00000369939:Q217E;ENSP00000369942:Q217E	ENSP00000267853:Q217E	Q	+	1	0	GCOM1	55709315	0.992000	0.36948	0.004000	0.12327	0.268000	0.26511	3.376000	0.52417	0.642000	0.30620	0.650000	0.86243	CAA		0.413	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		G	57922023	C	G	57922023	3	3	115	1	0	0	0	0	1	0	0	0	6306	711	25	4	671	4	GCOM1	15	57922023	Missense_Mutation	SNP	C	TCGA-AL-3467-01A-01D-1252-08		57922023	44609369	7	7080											
SRCAP	10847	hgsc.bcm.edu	37	16	30745323	30745323	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr16:30745323C>G	ENST00000262518.4	+	30	6988	c.6603C>G	c.(6601-6603)ttC>ttG	p.F2201L	SRCAP_ENST00000395059.2_Missense_Mutation_p.F2139L|SRCAP_ENST00000344771.4_Missense_Mutation_p.F2043L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2201					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGCCTATTTCAAACAGGTAC	0.453																																																0													67	60	63					16																	30745323		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6603C>G	chr16.hg19:g.30745323C>G	ENSP00000262518:p.Phe2201Leu		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744801	0.30865	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.07800	3.16;3.16;3.16	5.24	2.95	0.34219	.	0.380726	0.22784	N	0.055681	T	0.11367	0.0277	N	0.13003	0.285	0.31625	N	0.649832	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.11446	-1.0587	10	0.34782	T	0.22	-14.3882	7.2742	0.26275	0.0:0.329:0.0:0.671	.	2139;2201	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	2201;2139;2043	ENSP00000262518:F2201L;ENSP00000378499:F2139L;ENSP00000343042:F2043L	ENSP00000262518:F2201L	F	+	3	2	SRCAP	30652824	0.995000	0.38212	1.000000	0.80357	0.948000	0.59901	0.370000	0.20433	0.414000	0.25790	-0.414000	0.06135	TTC		0.453	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		G	30745323	C	G	30745323	3	3	115	1	0	0	0	0	1	0	0	0	15140	825	29	4	6713	4	SRCAP	16	30745323	Missense_Mutation	SNP	C	TCGA-AL-3467-01A-01D-1252-08		30745323	59609430	8	7081											
CDH8	1006	hgsc.bcm.edu	37	16	61891030	61891031	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr16:61891030_61891031AG>CT	ENST00000577390.1	-	4	1613_1614	c.659_660CT>AG	c.(658-660)cCT>cAG	p.P220Q	CDH8_ENST00000584337.1_Missense_Mutation_p.P220Q|CDH8_ENST00000299345.6_Missense_Mutation_p.P220Q|CDH8_ENST00000577730.1_Missense_Mutation_p.P220Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AACCTGTTTCAGGCTCAATGGA	0.391																																																0																																										SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.659_660delinsCT	chr16.hg19:g.61891030_61891031delinsCT	ENSP00000462701:p.Pro220Gln		B3KWC1|Q14DC6|Q9ULB2	Silent|Missense_Mutation	SNP	ENST00000577390.1	hg19	CCDS10802.1																																																																																				0.391	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		CT	61891031	AG	CT	61891030	3	2	115	1	0	0	0	0	1	0	0	0	3118	175	7	5	1775	5	CDH8	16	61891030	Missense_Mutation	DNP	AG	TCGA-AL-3467-01A-01D-1252-08	31145707	61891030	28463723	9	7082											
ZMYND15	84225	hgsc.bcm.edu	37	17	4645266	4645266	+	Frame_Shift_Del	DEL	G	G	-	rs200238712		TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr17:4645266delG	ENST00000433935.1	+	4	941	c.884delG	c.(883-885)cggfs	p.R295fs	CXCL16_ENST00000293778.6_5'Flank|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000592813.1_Frame_Shift_Del_p.R295fs|ZMYND15_ENST00000269289.6_Frame_Shift_Del_p.R295fs|ZMYND15_ENST00000573751.2_Frame_Shift_Del_p.R295fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	295					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						ACCCCAATGCGGACATGGGGT	0.577																																																0													79	84	82					17																	4645266		2203	4300	6503	SO:0001589	frameshift_variant	84225			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.884delG	chr17.hg19:g.4645266delG	ENSP00000391742:p.Arg295fs		B4DXY5|I3L296	Frame_Shift_Del	DEL	ENST00000433935.1	hg19	CCDS45584.1																																																																																				0.577	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		-	4645266	G	-	4645266	7	5	115	1	0	1	0	1	0	0	0	0	17713	1116	39	0	894	0	ZMYND15	17	4645266	Frame_Shift_Del	DEL	G	TCGA-AL-3467-01A-01D-1252-08		4645266	76549944	10	7083											
CDC27	996	hgsc.bcm.edu	37	17	45249350	45249350	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr17:45249350T>C	ENST00000066544.3	-	3	277	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	CDC27_ENST00000527547.1_Missense_Mutation_p.K62E|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Missense_Mutation_p.K62E|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Intron	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	62					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTGTGTCCTTTCAAGAGTCTA	0.348																																																0													42	41	41					17																	45249350		2202	4300	6502	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.184A>G	chr17.hg19:g.45249350T>C	ENSP00000066544:p.Lys62Glu		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	hg19	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820387	0.71028	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000527547;ENST00000526866	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.518646	0.23036	N	0.052667	T	0.70971	0.3285	L	0.39467	1.215	0.80722	D	1	B;P;P	0.46578	0.314;0.499;0.88	B;B;P	0.45099	0.082;0.112;0.469	T	0.74754	-0.3558	10	0.72032	D	0.01	-34.4674	13.8831	0.63693	0.0:0.0:0.0:1.0	.	62;62;62	G5EA36;G3V1C4;P30260	.;.;CDC27_HUMAN	E	62	ENSP00000066544:K62E;ENSP00000434614:K62E;ENSP00000437339:K62E;ENSP00000432105:K62E	ENSP00000066544:K62E	K	-	1	0	CDC27	42604349	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.803000	0.85983	2.173000	0.68751	0.482000	0.46254	AAA		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			C	45249350	T	C	45249350	3	2	115	1	0	0	0	0	1	0	0	0	3068	1792	62	3	2376	3	CDC27	17	45249350	Missense_Mutation	SNP	T	TCGA-AL-3467-01A-01D-1252-08	40604084	45249350	35945860	11	7084											
TBX4	9496	hgsc.bcm.edu	37	17	59560359	59560359	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr17:59560359G>A	ENST00000240335.1	+	8	1165	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	TBX4_ENST00000393853.4_Missense_Mutation_p.D375N|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	374					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCTCCCTACGACCAGCAAAT	0.597																																																0													66	58	61					17																	59560359		2203	4300	6503	SO:0001583	missense	9496			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1120G>A	chr17.hg19:g.59560359G>A	ENSP00000240335:p.Asp374Asn		A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	hg19	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231687	0.79688	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.85702	-2.02;-2.02	5.51	5.51	0.81932	.	0.377447	0.27455	N	0.019283	T	0.78805	0.4341	L	0.40543	1.245	0.58432	D	0.999997	P;P	0.47545	0.896;0.897	B;B	0.35971	0.215;0.212	T	0.79127	-0.1931	9	.	.	.	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	375;374	A5PKU7;P57082	.;TBX4_HUMAN	N	375;374	ENSP00000377435:D375N;ENSP00000240335:D374N	.	D	+	1	0	TBX4	56915141	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.574000	0.82434	2.590000	0.87494	0.655000	0.94253	GAC		0.597	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		A	59560359	G	A	59560359	3	1	115	1	0	0	0	0	1	0	0	0	15665	1058	37	1	1150	1	TBX4	17	59560359	Missense_Mutation	SNP	G	TCGA-AL-3467-01A-01D-1252-08	14311009	59560359	21634851	12	7085											
CELSR1	9620	hgsc.bcm.edu	37	22	46785299	46785299	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3467-01A-01D-1252-08	TCGA-AL-3467-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a74ffd4b-fa89-49ae-aa1d-3052a5440fa2	2ab402fb-392f-4441-a979-713a602c9cd3	g.chr22:46785299A>G	ENST00000262738.3	-	18	6442	c.6443T>C	c.(6442-6444)cTc>cCc	p.L2148P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2148					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTGCCAAAGAGCGTGCCCGT	0.667																																																0													48	41	43					22																	46785299		2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6443T>C	chr22.hg19:g.46785299A>G	ENSP00000262738:p.Leu2148Pro		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	hg19	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	A	8.527	0.870135	0.17322	.	.	ENSG00000075275	ENST00000262738	T	0.14516	2.5	4.99	3.96	0.45880	Domain of unknown function DUF3497 (1);	0.304522	0.25386	N	0.031042	T	0.20373	0.0490	M	0.68952	2.095	0.38634	D	0.951442	B;B	0.29136	0.234;0.097	B;B	0.37451	0.25;0.16	T	0.03728	-1.1009	10	0.66056	D	0.02	.	10.2827	0.43550	0.9208:0.0:0.0792:0.0	.	469;2148	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	P	2148	ENSP00000262738:L2148P	ENSP00000262738:L2148P	L	-	2	0	CELSR1	45163963	1.000000	0.71417	0.594000	0.28785	0.090000	0.18270	2.630000	0.46494	0.763000	0.33175	0.533000	0.62120	CTC		0.667	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46785299	A	G	46785299	3	3	115	1	0	0	0	0	1	0	0	0	3223	304	11	3	2673	3	CELSR1	22	46785299	Missense_Mutation	SNP	A	TCGA-AL-3467-01A-01D-1252-08		46785299	4519267	13	7086											
ADAM15	8751	hgsc.bcm.edu	37	1	155032387	155032387	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr1:155032387A>T	ENST00000356955.2	+	17	2106	c.2005A>T	c.(2005-2007)Agc>Tgc	p.S669C	ADAM15_ENST00000359280.4_Missense_Mutation_p.S669C|ADAM15_ENST00000449910.2_Missense_Mutation_p.S669C|ADAM15_ENST00000360674.4_Missense_Mutation_p.S669C|ADAM15_ENST00000368410.2_Missense_Mutation_p.S375C|ADAM15_ENST00000355956.2_Missense_Mutation_p.S669C|ADAM15_ENST00000531455.1_Missense_Mutation_p.S679C|ADAM15_ENST00000368412.3_Missense_Mutation_p.S669C|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Missense_Mutation_p.S375C|ADAM15_ENST00000271836.6_Missense_Mutation_p.S669C	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	669	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGTCTGTGACAGCAACAGGCA	0.557																																																0													143	141	142					1																	155032387		2203	4300	6503	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2005A>T	chr1.hg19:g.155032387A>T	ENSP00000349436:p.Ser669Cys		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	hg19	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657238	0.88154	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	D;D;D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.55	5.55	0.83447	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000051	D	0.94798	0.8320	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;1.0;0.998;0.999;1.0	D;D;D;D;D;D;D;D;D;D	0.85130	0.986;0.971;0.981;0.969;0.994;0.994;0.997;0.967;0.989;0.986	D	0.95706	0.8753	10	0.87932	D	0	.	13.6954	0.62575	1.0:0.0:0.0:0.0	.	679;686;669;669;669;669;669;669;669;666	E9PN65;B7Z390;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;ADA15_HUMAN;.	C	669;669;669;669;669;669;375;669;375;679	ENSP00000349436:S669C;ENSP00000403843:S669C;ENSP00000352226:S669C;ENSP00000353892:S669C;ENSP00000357397:S669C;ENSP00000348227:S669C;ENSP00000357395:S375C;ENSP00000271836:S669C;ENSP00000357398:S375C;ENSP00000432927:S679C	ENSP00000271836:S669C	S	+	1	0	ADAM15	153299011	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.114000	0.89570	2.333000	0.79357	0.533000	0.62120	AGC		0.557	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		T	155032387	A	T	155032387	3	4	116	1	0	0	0	0	1	0	0	0	237	188	7	5	2071	5	ADAM15	1	155032387	Missense_Mutation	SNP	A	TCGA-AL-3468-01A-01D-1252-08		155032387	94218234	1	7087											
ASH1L	55870	hgsc.bcm.edu	37	1	155408153	155408153	+	Silent	SNP	T	T	A	rs369367522		TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr1:155408153T>A	ENST00000368346.3	-	5	6432	c.5793A>T	c.(5791-5793)ccA>ccT	p.P1931P	ASH1L_ENST00000392403.3_Silent_p.P1931P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1931					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCTGGTAATGGCTTCTGCT	0.363																																																0													145	142	143					1																	155408153		2203	4300	6503	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5793A>T	chr1.hg19:g.155408153T>A			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	hg19																																																																																					0.363	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		A	155408153	T	A	155408153	2	1	116	1	0	0	0	0	0	0	0	1	1041	1451	51	5		5	ASH1L	1	155408153	Silent	SNP	T	TCGA-AL-3468-01A-01D-1252-08	375766	155408153	93842468	2	7088											
ISG20L2	81875	hgsc.bcm.edu	37	1	156693972	156693972	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr1:156693972G>A	ENST00000313146.6	-	2	1698	c.916C>T	c.(916-918)Ctc>Ttc	p.L306F	ISG20L2_ENST00000368219.1_Missense_Mutation_p.L306F|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	306	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTTGGTGAGATGCTTCAGA	0.587																																																0													116	115	116					1																	156693972		2203	4300	6503	SO:0001583	missense	81875			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.916C>T	chr1.hg19:g.156693972G>A	ENSP00000323424:p.Leu306Phe		D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	hg19	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787888	0.90367	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.34472	1.36;1.36	5.73	4.81	0.61882	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.146642	0.47093	D	0.000259	T	0.67618	0.2912	H	0.97291	3.975	0.58432	D	0.999995	D	0.76494	0.999	D	0.70227	0.968	T	0.78502	-0.2179	10	0.87932	D	0	-18.3136	13.9197	0.63923	0.0752:0.0:0.9248:0.0	.	306	Q9H9L3	I20L2_HUMAN	F	306	ENSP00000323424:L306F;ENSP00000357202:L306F	ENSP00000323424:L306F	L	-	1	0	ISG20L2	154960596	1.000000	0.71417	0.964000	0.40570	0.954000	0.61252	5.268000	0.65536	2.722000	0.93159	0.655000	0.94253	CTC		0.587	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		A	156693972	G	A	156693972	3	1	116	1	0	0	0	0	1	0	0	0	7857	942	33	2	153	2	ISG20L2	1	156693972	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	1285819	156693972	92556649	3	7089											
IGSF9	57549	hgsc.bcm.edu	37	1	159898194	159898194	+	Missense_Mutation	SNP	G	G	T	rs374964822	byFrequency	TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr1:159898194G>T	ENST00000368094.1	-	19	3181	c.2984C>A	c.(2983-2985)cCt>cAt	p.P995H	TAGLN2_ENST00000478033.1_5'Flank|TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.P979H|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	995					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCTGTGTAAGGGGGCTCTGC	0.647																																																0													12	14	13					1																	159898194		2189	4271	6460	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2984C>A	chr1.hg19:g.159898194G>T	ENSP00000357073:p.Pro995His			Missense_Mutation	SNP	ENST00000368094.1	hg19	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	g	8.178	0.793234	0.16327	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.68181	-0.31;-0.23	4.21	2.34	0.29019	.	0.791526	0.10306	U	0.690564	T	0.32376	0.0827	N	0.19112	0.55	0.20873	N	0.999834	P;P	0.46327	0.876;0.876	B;B	0.43360	0.417;0.237	T	0.07046	-1.0793	9	.	.	.	-0.7754	8.3059	0.32042	0.1977:0.0:0.8023:0.0	.	995;533	Q9P2J2;C9JI81	TUTLA_HUMAN;.	H	979;995;533	ENSP00000355049:P979H;ENSP00000357073:P995H	.	P	-	2	0	IGSF9	158164818	0.440000	0.25618	0.583000	0.28640	0.038000	0.13279	1.608000	0.36847	0.426000	0.26116	-0.119000	0.15052	CCT		0.647	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		T	159898194	G	T	159898194	3	4	116	1	0	0	0	0	1	0	0	0	7607	1000	35	4	567	4	IGSF9	1	159898194	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	3204222	159898194	89352427	4	7090											
LY9	4063	hgsc.bcm.edu	37	1	160771585	160771585	+	Intron	DEL	T	T	-			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr1:160771585delT	ENST00000263285.6	+	2	484				LY9_ENST00000471816.1_Intron|LY9_ENST00000368039.2_Frame_Shift_Del_p.F154fs|LY9_ENST00000341032.4_Intron|LY9_ENST00000368037.5_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000368041.2_Intron			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			cccagcaccatttattgaaaa	0.473																																																0													84	92	89					1																	160771585		2203	4300	6503	SO:0001627	intron_variant	4063			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.454+1713T>-	chr1.hg19:g.160771585delT			A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Frame_Shift_Del	DEL	ENST00000263285.6	hg19	CCDS30916.1																																																																																				0.473	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		-	160771585	T	-	160771585	6	5	116	0	1	1	0	1	0	0	0	0	9103	1493	52	0		0	LY9	1	160771585	Intron	DEL	T	TCGA-AL-3468-01A-01D-1252-08	873391	160771585	88479036	5	7091											
PROX1	5629	hgsc.bcm.edu	37	1	214178606	214178606	+	Silent	SNP	C	C	T	rs369204553	byFrequency	TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr1:214178606C>T	ENST00000366958.4	+	3	2432	c.1824C>T	c.(1822-1824)tcC>tcT	p.S608S	PROX1_ENST00000435016.1_Silent_p.S608S|PROX1_ENST00000261454.4_Silent_p.S608S|PROX1_ENST00000498508.2_Silent_p.S608S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	608					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S608S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCTACTTCTCCGACGTAAAGG	0.378													C|||	3	0.000599042	0.0	0.0	5008	,	,		20446	0.0		0.0	False		,,,				2504	0.0031															2	Substitution - coding silent(2)	prostate(1)|endometrium(1)						C		1,4405	2.1+/-5.4	0,1,2202	96	94	94		1824	-7.2	0.9	1		94	0,8600		0,0,4300	no	coding-synonymous	PROX1	NM_002763.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		608/738	214178606	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1824C>T	chr1.hg19:g.214178606C>T			A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	hg19	CCDS31021.1																																																																																				0.378	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		T	214178606	C	T	214178606	2	4	116	1	0	0	0	0	0	0	0	1	12565	639	23	1		1	PROX1	1	214178606	Silent	SNP	C	TCGA-AL-3468-01A-01D-1252-08	53407021	214178606	35072015	6	7092											
BPNT1	10380	hgsc.bcm.edu	37	1	220232228	220232229	+	Frame_Shift_Ins	INS	-	-	GCATA			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr1:220232228_220232229insGCATA	ENST00000469520.2	-	10	1333_1334	c.884_885insTATGC	c.(883-885)gcafs	p.-295fs	BPNT1_ENST00000544404.1_Frame_Shift_Ins_p.-240fs|BPNT1_ENST00000414869.2_Frame_Shift_Ins_p.-259fs|BPNT1_ENST00000354807.3_Intron|BPNT1_ENST00000322067.7_Frame_Shift_Ins_p.-295fs			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GAACTCGGCTTGCATAGTAGTC	0.46																																																0																																										SO:0001589	frameshift_variant	10380			AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.880_884dupTATGC	chr1.hg19:g.220232229_220232233dupGCATA	ENSP00000446828:p.Ala295fs		A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Frame_Shift_Ins	INS	ENST00000469520.2	hg19	CCDS41469.1																																																																																				0.46	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		GCATA	220232229	-	GCATA	220232228	7	5	116	1	0	1	1	0	0	0	0	0	1496	1799	63	0	45	0	BPNT1	1	220232228	Frame_Shift_Ins	INS	-	TCGA-AL-3468-01A-01D-1252-08	6053622	220232228	29018393	7	7093	62	2									
BPNT1	10380	hgsc.bcm.edu	37	1	220232235	220232235	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr1:220232235T>C	ENST00000469520.2	-	10	1327	c.878A>G	c.(877-879)tAc>tGc	p.Y293C	BPNT1_ENST00000544404.1_Missense_Mutation_p.Y238C|BPNT1_ENST00000414869.2_Missense_Mutation_p.Y257C|BPNT1_ENST00000354807.3_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.Y293C			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	293					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GCTTGCATAGTAGTCATAATT	0.463																																																0													176	166	169					1																	220232235		1915	4149	6064	SO:0001583	missense	10380			AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.878A>G	chr1.hg19:g.220232235T>C	ENSP00000446828:p.Tyr293Cys		A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	hg19	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266127	0.80358	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000544404;ENST00000414869	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.41	5.41	0.78517	.	.	.	.	.	T	0.65228	0.2671	M	0.67953	2.075	0.80722	D	1	P;D	0.67145	0.951;0.996	P;D	0.66602	0.886;0.945	T	0.65438	-0.6168	9	0.42905	T	0.14	.	15.7585	0.78058	0.0:0.0:0.0:1.0	.	257;293	B4DUS9;O95861	.;BPNT1_HUMAN	C	293;293;238;257	ENSP00000318852:Y293C;ENSP00000446828:Y293C;ENSP00000444398:Y238C;ENSP00000410348:Y257C	ENSP00000318852:Y293C	Y	-	2	0	BPNT1	218298858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.164000	0.71885	2.191000	0.70037	0.528000	0.53228	TAC		0.463	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		C	220232235	T	C	220232235	3	2	116	1	0	0	0	0	1	0	0	0	1496	1638	57	3	52	3	BPNT1	1	220232235	Missense_Mutation	SNP	T	TCGA-AL-3468-01A-01D-1252-08	7	220232235	29018386	8	7094	62	2									
PRKCE	5581	hgsc.bcm.edu	37	2	46372319	46372319	+	Silent	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr2:46372319T>C	ENST00000306156.3	+	12	2007	c.1680T>C	c.(1678-1680)aaT>aaC	p.N560N		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	560	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GGATTCTGAATGGTGTGACGA	0.537																																																0													176	173	174					2																	46372319		2114	4130	6244	SO:0001819	synonymous_variant	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1680T>C	chr2.hg19:g.46372319T>C			B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	ENST00000306156.3	hg19	CCDS1824.1																																																																																				0.537	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			C	46372319	T	C	46372319	2	2	116	1	0	0	0	0	0	0	0	1	12516	1461	51	3		3	PRKCE	2	46372319	Silent	SNP	T	TCGA-AL-3468-01A-01D-1252-08		46372319	196827054	9	7095											
DCTN1	1639	hgsc.bcm.edu	37	2	74589259	74589259	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr2:74589259G>C	ENST00000361874.3	-	31	3936	c.3619C>G	c.(3619-3621)Ctc>Gtc	p.L1207V	DCTN1_ENST00000409567.3_Missense_Mutation_p.L1182V|DCTN1_ENST00000407639.2_Missense_Mutation_p.L1073V|RP11-287D1.3_ENST00000451608.2_Missense_Mutation_p.L120V|DCTN1_ENST00000409868.1_Missense_Mutation_p.L1185V|DCTN1_ENST00000394003.3_Missense_Mutation_p.L1200V|DCTN1_ENST00000409240.1_Missense_Mutation_p.L1165V|DCTN1_ENST00000409438.1_Missense_Mutation_p.L1068V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1207					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTCTCCTTGAGGACCTCATCC	0.557																																																0													99	81	87					2																	74589259		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3619C>G	chr2.hg19:g.74589259G>C	ENSP00000354791:p.Leu1207Val		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	hg19	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729642	0.30684	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.77620	-0.7;-0.89;-0.7;-0.71;-1.11;-0.9;-0.89	5.24	3.05	0.35203	.	0.486591	0.15698	N	0.249059	T	0.53110	0.1776	N	0.08118	0	0.41825	D	0.990044	B;B;B;B;B;B;B	0.18968	0.009;0.0;0.003;0.032;0.022;0.006;0.025	B;B;B;B;B;B;B	0.21708	0.004;0.002;0.003;0.021;0.014;0.006;0.036	T	0.39014	-0.9634	10	0.15952	T	0.53	-0.2731	4.924	0.13883	0.1277:0.0:0.4745:0.3979	.	1182;1165;1207;1200;1073;1068;1190	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4;A8MWX9	.;.;DCTN1_HUMAN;.;.;.;.	V	1207;1200;1190;1073;1068;1165;1185;1182	ENSP00000354791:L1207V;ENSP00000377571:L1200V;ENSP00000384844:L1073V;ENSP00000387270:L1068V;ENSP00000386406:L1165V;ENSP00000387327:L1185V;ENSP00000386843:L1182V	ENSP00000354791:L1207V	L	-	1	0	DCTN1	74442767	0.998000	0.40836	1.000000	0.80357	0.966000	0.64601	2.517000	0.45529	1.057000	0.40506	0.491000	0.48974	CTC		0.557	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		C	74589259	G	C	74589259	3	2	116	1	0	0	0	0	1	0	0	0	4308	1000	35	4	225	4	DCTN1	2	74589259	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	28216940	74589259	168610114	10	7096											
RGPD3	653489	hgsc.bcm.edu	37	2	107049613	107049613	+	Silent	SNP	A	A	G			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr2:107049613A>G	ENST00000409886.3	-	16	2421	c.2334T>C	c.(2332-2334)caT>caC	p.H778H	RGPD3_ENST00000304514.7_Silent_p.H778H	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	778					protein targeting to Golgi (GO:0000042)			p.H778Q(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATGGTGTAGAATGTTTTATTT	0.353																																																2	Substitution - Missense(2)	lung(2)											8	17	14					2																	107049613		632	1470	2102	SO:0001819	synonymous_variant	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2334T>C	chr2.hg19:g.107049613A>G			B8ZZM4	Silent	SNP	ENST00000409886.3	hg19	CCDS46379.1																																																																																				0.353	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		G	107049613	A	G	107049613	2	3	116	1	0	0	0	0	0	0	0	1	13293	98	4	3		3	RGPD3	2	107049613	Silent	SNP	A	TCGA-AL-3468-01A-01D-1252-08	32460354	107049613	136149760	11	7097											
DPP10	57628	hgsc.bcm.edu	37	2	116598392	116598392	+	Missense_Mutation	SNP	C	C	A	rs201639501		TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr2:116598392C>A	ENST00000410059.1	+	25	2729	c.2249C>A	c.(2248-2250)aCt>aAt	p.T750N	DPP10_ENST00000310323.8_Missense_Mutation_p.T743N|DPP10_ENST00000409163.1_Missense_Mutation_p.T700N|DPP10_ENST00000393147.2_Missense_Mutation_p.T754N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	750						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTGAATTATACTATGCAGGTA	0.358																																																0													96	94	94					2																	116598392		2203	4300	6503	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2249C>A	chr2.hg19:g.116598392C>A	ENSP00000386565:p.Thr750Asn		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	hg19	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635056	0.87760	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.99	5.99	0.97316	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.056130	0.64402	D	0.000001	T	0.53883	0.1824	L	0.31294	0.92	0.54753	D	0.999989	D;D;D;D	0.67145	0.995;0.978;0.996;0.996	D;P;D;D	0.68621	0.931;0.832;0.959;0.959	T	0.44937	-0.9295	10	0.37606	T	0.19	-19.3701	19.4659	0.94939	0.0:1.0:0.0:0.0	.	743;754;746;750	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	750;700;754;743	ENSP00000386565:T750N;ENSP00000387038:T700N;ENSP00000376855:T754N;ENSP00000309066:T743N	ENSP00000309066:T743N	T	+	2	0	DPP10	116314862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.723000	0.74742	2.840000	0.97914	0.655000	0.94253	ACT		0.358	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116598392	C	A	116598392	3	1	116	1	0	0	0	0	1	0	0	0	4729	565	20	4	2518	4	DPP10	2	116598392	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08	9548779	116598392	126600981	12	7098											
ITGB6	3694	hgsc.bcm.edu	37	2	160982928	160982928	+	Silent	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr2:160982928T>C	ENST00000283249.2	-	11	2082	c.1845A>G	c.(1843-1845)gaA>gaG	p.E615E	ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000428609.2_Silent_p.E573E|ITGB6_ENST00000409872.1_Silent_p.E615E	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	615	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TAGGACATCGTTCACAGGTTG	0.502																																																0													97	85	89					2																	160982928		2203	4300	6503	SO:0001819	synonymous_variant	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1845A>G	chr2.hg19:g.160982928T>C			B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	hg19	CCDS2212.1																																																																																				0.502	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		C	160982928	T	C	160982928	2	2	116	1	0	0	0	0	0	0	0	1	7901	1722	60	3		3	ITGB6	2	160982928	Silent	SNP	T	TCGA-AL-3468-01A-01D-1252-08	44384536	160982928	82216445	13	7099											
ACADL	33	hgsc.bcm.edu	37	2	211081149	211081149	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr2:211081149T>C	ENST00000233710.3	-	4	685	c.458A>G	c.(457-459)cAg>cGg	p.Q153R	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	153					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		GTGCTTAATCTGTTCTTCTGA	0.383																																																0													161	149	153					2																	211081149		2203	4300	6503	SO:0001583	missense	33			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.458A>G	chr2.hg19:g.211081149T>C	ENSP00000233710:p.Gln153Arg		B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	hg19	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667847	0.88348	.	.	ENSG00000115361	ENST00000233710	D	0.99869	-7.33	5.63	5.63	0.86233	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96051	0.9031	10	0.72032	D	0.01	.	16.1307	0.81436	0.0:0.0:0.0:1.0	.	153	P28330	ACADL_HUMAN	R	153	ENSP00000233710:Q153R	ENSP00000233710:Q153R	Q	-	2	0	ACADL	210789394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.422000	0.80217	2.263000	0.75096	0.533000	0.62120	CAG		0.383	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		C	211081149	T	C	211081149	3	2	116	1	0	0	0	0	1	0	0	0	112	1580	55	3	866	3	ACADL	2	211081149	Missense_Mutation	SNP	T	TCGA-AL-3468-01A-01D-1252-08	50098221	211081149	32118224	14	7100											
BARD1	580	hgsc.bcm.edu	37	2	215593624	215593624	+	Missense_Mutation	SNP	T	T	G			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr2:215593624T>G	ENST00000260947.4	-	11	2244	c.2110A>C	c.(2110-2112)Agt>Cgt	p.S704R	BARD1_ENST00000432456.1_Missense_Mutation_p.S75R|BARD1_ENST00000449967.2_Silent_p.S558S	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	704	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGCTTTCTACTGAGGATCTGG	0.493									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																							0													144	111	122					2																	215593624		2203	4300	6503	SO:0001583	missense	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.2110A>C	chr2.hg19:g.215593624T>G	ENSP00000260947:p.Ser704Arg		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	hg19	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.064962	0.36470	.	.	ENSG00000138376	ENST00000260947;ENST00000432456	T;T	0.73363	-0.74;1.95	5.81	5.81	0.92471	BRCT (3);	0.268513	0.40908	N	0.000992	T	0.60431	0.2268	L	0.36672	1.1	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.56269	-0.8007	10	0.25106	T	0.35	-7.0699	6.3187	0.21204	0.1431:0.0794:0.0:0.7775	.	704	Q99728	BARD1_HUMAN	R	704;75	ENSP00000260947:S704R;ENSP00000405020:S75R	ENSP00000260947:S704R	S	-	1	0	BARD1	215301869	0.102000	0.21896	0.975000	0.42487	0.984000	0.73092	0.357000	0.20199	2.217000	0.71921	0.482000	0.46254	AGT		0.493	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		G	215593624	T	G	215593624	3	3	116	1	0	0	0	0	1	0	0	0	1312	1580	55	5	227	5	BARD1	2	215593624	Missense_Mutation	SNP	T	TCGA-AL-3468-01A-01D-1252-08	4512475	215593624	27605749	15	7101											
STK25	10494	hgsc.bcm.edu	37	2	242437690	242437690	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr2:242437690C>A	ENST00000316586.4	-	9	1341	c.992G>T	c.(991-993)aGc>aTc	p.S331I	STK25_ENST00000405585.1_Missense_Mutation_p.S254I|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405883.3_Missense_Mutation_p.S254I|STK25_ENST00000543554.1_Missense_Mutation_p.S237I|STK25_ENST00000403346.3_Missense_Mutation_p.S331I|STK25_ENST00000535007.1_Missense_Mutation_p.S237I|STK25_ENST00000401869.1_Missense_Mutation_p.S331I	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	331					establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GTGAAGCTTGCTGTGTGGACT	0.652																																					NSCLC(99;1100 1566 7679 28647 48345)											0													152	134	140					2																	242437690		2203	4300	6503	SO:0001583	missense	10494			D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.992G>T	chr2.hg19:g.242437690C>A	ENSP00000325748:p.Ser331Ile		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	hg19	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130649	0.37630	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	4.97	2.17	0.27698	.	0.191571	0.56097	D	0.000038	T	0.23370	0.0565	L	0.29908	0.895	0.48236	D	0.99961	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.05131	-1.0904	10	0.41790	T	0.15	.	7.7734	0.29021	0.0:0.6788:0.0:0.3212	.	257;254;331	B4DVS7;A8K6Z3;O00506	.;.;STK25_HUMAN	I	331;331;331;254;237;254;237;237	ENSP00000325748:S331I;ENSP00000384162:S331I;ENSP00000385687:S331I;ENSP00000384444:S254I;ENSP00000385541:S254I;ENSP00000444886:S237I;ENSP00000446008:S237I	ENSP00000325748:S331I	S	-	2	0	STK25	242086363	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	0.472000	0.22116	0.629000	0.30376	0.561000	0.74099	AGC		0.652	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		A	242437690	C	A	242437690	3	1	116	1	0	0	0	0	1	0	0	0	15299	797	28	4	304	4	STK25	2	242437690	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08	26844066	242437690	761683	16	7102											
BHLHE40	8553	hgsc.bcm.edu	37	3	5024904	5024904	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr3:5024904A>T	ENST00000256495.3	+	5	1369	c.766A>T	c.(766-768)Agt>Tgt	p.S256C		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	256					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CGACTTGCGCAGTGAGCAGCC	0.572																																																0													69	64	66					3																	5024904		2203	4300	6503	SO:0001583	missense	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.766A>T	chr3.hg19:g.5024904A>T	ENSP00000256495:p.Ser256Cys		Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	hg19	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	A	6.428	0.447160	0.12223	.	.	ENSG00000134107	ENST00000256495	T	0.65364	-0.15	5.2	-2.51	0.06365	.	1.437920	0.04279	N	0.343497	T	0.49047	0.1534	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.41502	-0.9505	10	0.62326	D	0.03	.	6.2929	0.21069	0.1557:0.0922:0.6603:0.0918	.	256	O14503	BHE40_HUMAN	C	256	ENSP00000256495:S256C	ENSP00000256495:S256C	S	+	1	0	BHLHE40	4999904	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.454000	0.21827	-0.536000	0.06298	-0.290000	0.09829	AGT		0.572	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		T	5024904	A	T	5024904	3	4	116	1	0	0	0	0	1	0	0	0	1423	188	7	5	784	5	BHLHE40	3	5024904	Missense_Mutation	SNP	A	TCGA-AL-3468-01A-01D-1252-08		5024904	192997526	17	7103											
SLC6A6	6533	hgsc.bcm.edu	37	3	14508150	14508150	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr3:14508150G>A	ENST00000454876.2	+	7	1188	c.859G>A	c.(859-861)Gac>Aac	p.D287N	SLC6A6_ENST00000360861.3_Missense_Mutation_p.D287N			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	287					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCGCCTTGAGGACCCACAGGT	0.642																																																0													60	56	57					3																	14508150		2203	4300	6503	SO:0001583	missense	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.859G>A	chr3.hg19:g.14508150G>A	ENSP00000398063:p.Asp287Asn		B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	hg19	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616123	0.87359	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.74526	-0.85;-0.85	4.55	4.55	0.56014	.	0.047664	0.85682	D	0.000000	T	0.76709	0.4025	L	0.42487	1.325	0.80722	D	1	P	0.44044	0.825	P	0.50934	0.654	T	0.77264	-0.2652	10	0.42905	T	0.14	.	17.6676	0.88207	0.0:0.0:1.0:0.0	.	287	P31641	SC6A6_HUMAN	N	287	ENSP00000398063:D287N;ENSP00000354107:D287N	ENSP00000354107:D287N	D	+	1	0	SLC6A6	14483154	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	7.696000	0.84270	2.241000	0.73720	0.491000	0.48974	GAC		0.642	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		A	14508150	G	A	14508150	3	1	116	1	0	0	0	0	1	0	0	0	14694	1174	41	2	881	2	SLC6A6	3	14508150	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	9483246	14508150	183514280	18	7104											
BAP1	8314	hgsc.bcm.edu	37	3	52441417	52441417	+	Silent	SNP	G	G	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr3:52441417G>C	ENST00000460680.1	-	6	906	c.435C>G	c.(433-435)gcC>gcG	p.A145A	BAP1_ENST00000296288.5_Silent_p.A145A	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCACACACCTGGCATGGCTAT	0.547			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													88	92	91					3																	52441417		2203	4300	6503	SO:0001819	synonymous_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.435C>G	chr3.hg19:g.52441417G>C			B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	ENST00000460680.1	hg19	CCDS2853.1																																																																																				0.547	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			C	52441417	G	C	52441417	2	2	116	1	0	0	0	0	0	0	0	1	1311	1335	47	4		4	BAP1	3	52441417	Silent	SNP	G	TCGA-AL-3468-01A-01D-1252-08	37933267	52441417	145581013	19	7105											
PDZRN3	23024	hgsc.bcm.edu	37	3	73432828	73432828	+	Silent	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr3:73432828C>T	ENST00000263666.4	-	10	3003	c.2889G>A	c.(2887-2889)gcG>gcA	p.A963A	PDZRN3_ENST00000466780.1_Silent_p.A620A|PDZRN3_ENST00000462146.2_Silent_p.A620A|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Silent_p.A680A|PDZRN3_ENST00000535920.1_Silent_p.A685A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	963					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A963A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTCGCTCACCGCGTCGTCGT	0.672																																																1	Substitution - coding silent(1)	large_intestine(1)											75	72	73					3																	73432828		2203	4300	6503	SO:0001819	synonymous_variant	23024			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2889G>A	chr3.hg19:g.73432828C>T			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	hg19	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.192|5.192	0.220967|0.220967	0.09863|0.09863	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000416926|ENST00000494559	.|.	.|.	.|.	5.21|5.21	-1.55|-1.55	0.08558|0.08558	.|.	.|.	.|.	.|.	.|.	T|T	0.80149|0.80149	0.4570|0.4570	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.78157|0.78157	-0.2313|-0.2313	5|4	0.09590|.	T|.	0.72|.	.|.	25.5553|25.5553	0.99994|0.99994	0.0:0.1209:0.8791:0.0|0.0:0.1209:0.8791:0.0	.|.	.|.	.|.	.|.	S|Q	683|279	.|.	ENSP00000392657:G683S|.	G|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73515518|73515518	0.370000|0.370000	0.25047|0.25047	0.008000|0.008000	0.14137|0.14137	0.813000|0.813000	0.45954|0.45954	-0.257000|-0.257000	0.08745|0.08745	-0.749000|-0.749000	0.04747|0.04747	0.563000|0.563000	0.77884|0.77884	GGT|CGG		0.672	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		T	73432828	C	T	73432828	2	4	116	1	0	0	0	0	0	0	0	1	11711	639	23	1		1	PDZRN3	3	73432828	Silent	SNP	C	TCGA-AL-3468-01A-01D-1252-08	20991411	73432828	124589602	20	7106											
SLC2A2	6514	hgsc.bcm.edu	37	3	170732492	170732492	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr3:170732492A>G	ENST00000314251.3	-	3	216	c.137T>C	c.(136-138)tTg>tCg	p.L46S	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	46					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	TGGAACACCCAAAACATGTCT	0.333																																																0			GRCh37	CD972446	SLC2A2	D							124	124	124					3																	170732492		2203	4300	6503	SO:0001583	missense	6514			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"Solute carriers"	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.137T>C	chr3.hg19:g.170732492A>G	ENSP00000323568:p.Leu46Ser		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	hg19	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.200977	0.58234	.	.	ENSG00000163581	ENST00000314251	D	0.84589	-1.87	5.84	5.84	0.93424	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.207774	0.41500	D	0.000861	D	0.88768	0.6526	M	0.89840	3.065	0.80722	D	1	P	0.37423	0.594	B	0.40982	0.345	D	0.87926	0.2707	10	0.30854	T	0.27	.	14.4575	0.67425	1.0:0.0:0.0:0.0	.	46	P11168	GTR2_HUMAN	S	46	ENSP00000323568:L46S	ENSP00000323568:L46S	L	-	2	0	SLC2A2	172215186	1.000000	0.71417	0.703000	0.30354	0.233000	0.25261	6.862000	0.75484	2.243000	0.73865	0.533000	0.62120	TTG		0.333	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		G	170732492	A	G	170732492	3	3	116	1	0	0	0	0	1	0	0	0	14550	131	5	3	1473	3	SLC2A2	3	170732492	Missense_Mutation	SNP	A	TCGA-AL-3468-01A-01D-1252-08	97299664	170732492	27289938	21	7107											
EIF2B5	8893	hgsc.bcm.edu	37	3	183861938	183861938	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr3:183861938G>A	ENST00000273783.3	+	14	2043	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N	EIF2B5_ENST00000444495.1_Missense_Mutation_p.D641N	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	641	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCGCGCAGCCGACCATTTGGA	0.473																																																0													157	158	158					3																	183861938		2203	4300	6503	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1921G>A	chr3.hg19:g.183861938G>A	ENSP00000273783:p.Asp641Asn		Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	hg19	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.137002	0.77775	.	.	ENSG00000145191	ENST00000273783;ENST00000444495	T;T	0.81330	-1.48;-1.48	5.83	5.83	0.93111	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.89753	0.6806	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.966;0.973	D	0.86277	0.1665	10	0.22109	T	0.4	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	641;641	E9PC74;Q13144	.;EI2BE_HUMAN	N	641	ENSP00000273783:D641N;ENSP00000409142:D641N	ENSP00000273783:D641N	D	+	1	0	EIF2B5	185344632	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	9.095000	0.94175	2.763000	0.94921	0.561000	0.74099	GAC		0.473	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			A	183861938	G	A	183861938	3	1	116	1	0	0	0	0	1	0	0	0	5006	1058	37	1	1975	1	EIF2B5	3	183861938	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	13129446	183861938	14160492	22	7108											
CD180	4064	hgsc.bcm.edu	37	5	66479676	66479676	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr5:66479676T>C	ENST00000256447.4	-	3	1152	c.995A>G	c.(994-996)cAt>cGt	p.H332R		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	332					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTGATCGAAATGATTTACACT	0.448																																																0													112	108	109					5																	66479676		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.995A>G	chr5.hg19:g.66479676T>C	ENSP00000256447:p.His332Arg		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	hg19	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	T	0.320	-0.962736	0.02249	.	.	ENSG00000134061	ENST00000256447	T	0.22945	1.93	4.93	-6.2	0.02072	.	2.214440	0.01592	N	0.021638	T	0.08358	0.0208	N	0.02685	-0.53	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19778	-1.0295	10	0.12430	T	0.62	.	3.8381	0.08903	0.0947:0.3857:0.1905:0.3291	.	332	Q99467	CD180_HUMAN	R	332	ENSP00000256447:H332R	ENSP00000256447:H332R	H	-	2	0	CD180	66515432	0.000000	0.05858	0.000000	0.03702	0.455000	0.32408	-1.582000	0.02117	-0.862000	0.04089	0.528000	0.53228	CAT		0.448	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		C	66479676	T	C	66479676	3	2	116	1	0	0	0	0	1	0	0	0	2974	1464	51	3	994	3	CD180	5	66479676	Missense_Mutation	SNP	T	TCGA-AL-3468-01A-01D-1252-08		66479676	114435584	23	7109											
SPINK5	11005	hgsc.bcm.edu	37	5	147505159	147505159	+	Intron	SNP	G	G	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr5:147505159G>T	ENST00000256084.7	+	29	2781				SPINK5_ENST00000359874.3_Missense_Mutation_p.V938F	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5						anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGCCTCTGTTGCCAGGAT	0.453																																																0													81	72	75					5																	147505159		1568	3582	5150	SO:0001627	intron_variant	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2740-127G>T	chr5.hg19:g.147505159G>T			A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	hg19	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.647508	0.00792	.	.	ENSG00000133710	ENST00000359874	T	0.48836	0.8	4.84	-6.57	0.01842	.	3.884710	0.00531	N	0.000217	T	0.33352	0.0860	.	.	.	0.09310	N	1	B	0.20052	0.041	B	0.28553	0.091	T	0.21895	-1.0232	9	0.36615	T	0.2	2.1949	6.42	0.21738	0.3875:0.236:0.3766:0.0	.	938	Q9NQ38-3	.	F	938	ENSP00000352936:V938F	ENSP00000352936:V938F	V	+	1	0	SPINK5	147485352	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.352000	0.02619	-1.402000	0.02056	-0.889000	0.02933	GTT		0.453	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		T	147505159	G	T	147505159	1	4	116	0	1	0	0	0	0	0	0	0	15067	1377	48	4		4	SPINK5	5	147505159	Intron	SNP	G	TCGA-AL-3468-01A-01D-1252-08	81025483	147505159	33410101	24	7110											
OR2J3	442186	hgsc.bcm.edu	37	6	29080474	29080475	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr6:29080474_29080475delTT	ENST00000377169.1	+	1	807_808	c.807_808delTT	c.(805-810)aattctfs	p.S270fs		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CATCAGGAAATTCTCAAGATCA	0.441																																																0																																										SO:0001589	frameshift_variant	442186				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.807_808delTT	chr6.hg19:g.29080474_29080475delTT	ENSP00000366374:p.Ser270fs		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Frame_Shift_Del	DEL	ENST00000377169.1	hg19	CCDS43433.1																																																																																				0.441	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			-	29080475	TT	-	29080474	7	5	116	1	0	1	0	1	0	0	0	0	11006	1490	52	0	809	0	OR2J3	6	29080474	Frame_Shift_Del	DEL	TT	TCGA-AL-3468-01A-01D-1252-08		29080474	142034593	25	7111											
MSH5	4439	hgsc.bcm.edu	37	6	31712029	31712029	+	Silent	SNP	A	A	G			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr6:31712029A>G	ENST00000375755.3	+	7	886	c.600A>G	c.(598-600)gaA>gaG	p.E200E	MSH5_ENST00000375750.3_Silent_p.E200E|MSH5_ENST00000375740.3_Silent_p.E217E|MSH5_ENST00000375703.3_Silent_p.E200E|MSH5_ENST00000431848.2_5'Flank|MSH5_ENST00000534153.4_Silent_p.E217E|MSH5_ENST00000375742.3_Silent_p.E217E|MSH5-SAPCD1_ENST00000493662.2_Silent_p.E217E|MSH5_ENST00000482280.1_3'UTR	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	200					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TTGAACTGGAAGACTATAATG	0.502								Direct reversal of damage;Mismatch excision repair (MMR)																																								0													100	100	100					6																	31712029		2203	4300	6503	SO:0001819	synonymous_variant	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.600A>G	chr6.hg19:g.31712029A>G			B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	hg19	CCDS4720.1																																																																																				0.502	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			G	31712029	A	G	31712029	2	3	116	1	0	0	0	0	0	0	0	1	9875	69	3	3		3	MSH5	6	31712029	Silent	SNP	A	TCGA-AL-3468-01A-01D-1252-08	2631555	31712029	139403038	26	7112											
LRRC1	55227	hgsc.bcm.edu	37	6	53787458	53787458	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr6:53787458C>A	ENST00000370888.1	+	14	1719	c.1442C>A	c.(1441-1443)cCa>cAa	p.P481Q	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	481						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CGAGCCACTCCACACCCAGGG	0.408																																																0													145	144	144					6																	53787458		1898	4118	6016	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1442C>A	chr6.hg19:g.53787458C>A	ENSP00000359925:p.Pro481Gln		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	hg19	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429142	0.83776	.	.	ENSG00000137269	ENST00000370888	T	0.77358	-1.09	5.91	5.91	0.95273	.	0.059723	0.64402	D	0.000002	D	0.87505	0.6194	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87812	0.2632	10	0.87932	D	0	.	19.2934	0.94112	0.0:1.0:0.0:0.0	.	481	Q9BTT6	LRRC1_HUMAN	Q	481	ENSP00000359925:P481Q	ENSP00000359925:P481Q	P	+	2	0	LRRC1	53895417	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	7.394000	0.79862	2.808000	0.96608	0.655000	0.94253	CCA		0.408	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		A	53787458	C	A	53787458	3	1	116	1	0	0	0	0	1	0	0	0	8968	594	21	4	1496	4	LRRC1	6	53787458	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08	22075429	53787458	117327609	27	7113											
BAI3	577	hgsc.bcm.edu	37	6	69759168	69759168	+	Missense_Mutation	SNP	G	G	C	rs267601102		TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr6:69759168G>C	ENST00000370598.1	+	15	3084	c.2263G>C	c.(2263-2265)Gat>Cat	p.D755H		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	755					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D755N(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTAGAATTAGATGAATCATC	0.289																																																2	Substitution - Missense(2)	skin(2)											62	61	62					6																	69759168		2202	4295	6497	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2263G>C	chr6.hg19:g.69759168G>C	ENSP00000359630:p.Asp755His		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	hg19	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097887	0.76870	.	.	ENSG00000135298	ENST00000370598	T	0.22134	1.97	5.3	5.3	0.74995	Domain of unknown function DUF3497 (1);	0.055134	0.64402	D	0.000001	T	0.32436	0.0829	L	0.58810	1.83	0.80722	D	1	P	0.50819	0.939	P	0.57548	0.823	T	0.03945	-1.0990	10	0.87932	D	0	.	19.3983	0.94617	0.0:0.0:1.0:0.0	.	755	O60242	BAI3_HUMAN	H	755	ENSP00000359630:D755H	ENSP00000359630:D755H	D	+	1	0	BAI3	69815889	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.425000	0.73370	2.650000	0.89964	0.650000	0.86243	GAT		0.289	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			C	69759168	G	C	69759168	3	2	116	1	0	0	0	0	1	0	0	0	1300	942	33	4	2313	4	BAI3	6	69759168	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	15971710	69759168	101355899	28	7114											
ARL4A	10124	hgsc.bcm.edu	37	7	12728407	12728407	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr7:12728407G>C	ENST00000396663.1	+	2	1010	c.528G>C	c.(526-528)aaG>aaC	p.K176N	ARL4A_ENST00000396662.1_Missense_Mutation_p.K176N|ARL4A_ENST00000404894.1_Missense_Mutation_p.K176N|ARL4A_ENST00000356797.3_Missense_Mutation_p.K176N|ARL4A_ENST00000396664.2_Missense_Mutation_p.K176N	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	176					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		ATGGCCTAAAGGAAGGACTTG	0.368																																																0													58	57	58					7																	12728407		2203	4294	6497	SO:0001583	missense	10124			U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	695	protein-coding gene	gene with protein product		604786	"ADP-ribosylation factor-like 4"	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.528G>C	chr7.hg19:g.12728407G>C	ENSP00000379898:p.Lys176Asn		A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	hg19	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228338	0.22542	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	4.52	2.56	0.30785	.	0.309199	0.29730	N	0.011351	T	0.66752	0.2821	N	0.20610	0.595	0.38338	D	0.943985	B	0.33000	0.393	B	0.31101	0.124	T	0.67894	-0.5552	10	0.87932	D	0	.	5.1052	0.14781	0.2333:0.1757:0.591:0.0	.	176	P40617	ARL4A_HUMAN	N	176	ENSP00000379897:K176N;ENSP00000349250:K176N;ENSP00000379899:K176N;ENSP00000379898:K176N;ENSP00000385236:K176N	ENSP00000349250:K176N	K	+	3	2	ARL4A	12694932	0.997000	0.39634	0.999000	0.59377	0.980000	0.70556	0.531000	0.23052	1.232000	0.43678	0.650000	0.86243	AAG		0.368	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		C	12728407	G	C	12728407	3	2	116	1	0	0	0	0	1	0	0	0	936	991	35	4	530	4	ARL4A	7	12728407	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08		12728407	146410256	29	7115											
CAMK2B	816	hgsc.bcm.edu	37	7	44259810	44259810	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr7:44259810C>T	ENST00000395749.2	-	23	1928	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	CAMK2B_ENST00000440254.2_Missense_Mutation_p.A494T|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000358707.3_Missense_Mutation_p.A455T|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000395747.2_Missense_Mutation_p.A470T|CAMK2B_ENST00000258682.6_Missense_Mutation_p.A469T|CAMK2B_ENST00000346990.4_Missense_Mutation_p.A401T|CAMK2B_ENST00000350811.3_Missense_Mutation_p.A494T|CAMK2B_ENST00000353625.4_Missense_Mutation_p.A431T|CAMK2B_ENST00000347193.4_Missense_Mutation_p.A444T|CAMK2B_ENST00000457475.1_Missense_Mutation_p.A470T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	618					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CGGATGTAAGCGATGCAGGCG	0.652																																																0													100	63	76					7																	44259810		2203	4300	6503	SO:0001583	missense	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1852G>A	chr7.hg19:g.44259810C>T	ENSP00000379098:p.Ala618Thr		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	hg19	CCDS5483.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432187	0.83776	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000425809;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747	T;T;T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	4.43	4.43	0.53597	Calcium/calmodulin-dependent protein kinase II, association-domain (1);	.	.	.	.	T	0.70937	0.3281	L	0.52905	1.665	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.968;1.0;0.987;1.0;1.0;0.974;0.988;1.0;0.999;1.0	P;D;P;D;D;P;P;D;P;D	0.91635	0.592;0.993;0.773;0.999;0.994;0.715;0.467;0.998;0.824;0.998	T	0.70608	-0.4825	9	0.40728	T	0.16	.	15.9546	0.79876	0.0:1.0:0.0:0.0	.	469;401;431;455;444;469;470;618;494;618	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2;A4D2J9	.;.;.;.;.;.;.;KCC2B_HUMAN;.;.	T	494;470;618;136;494;455;431;444;401;469;470	ENSP00000326375:A494T;ENSP00000390292:A470T;ENSP00000379098:A618T;ENSP00000410445:A136T;ENSP00000397937:A494T;ENSP00000351542:A455T;ENSP00000326427:A431T;ENSP00000326544:A444T;ENSP00000326518:A401T;ENSP00000258682:A469T;ENSP00000379096:A470T	ENSP00000258682:A469T	A	-	1	0	CAMK2B	44226335	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	7.303000	0.78871	2.305000	0.77605	0.462000	0.41574	GCT		0.652	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		T	44259810	C	T	44259810	3	4	116	1	0	0	0	0	1	0	0	0	2602	768	27	1	152	1	CAMK2B	7	44259810	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08	31531403	44259810	114878853	30	7116											
LANCL2	55915	hgsc.bcm.edu	37	7	55459595	55459595	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr7:55459595G>C	ENST00000254770.2	+	2	892	c.314G>C	c.(313-315)gGc>gCc	p.G105A		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	105					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GCTTATACTGGCTGGACAGGT	0.393																																																0													93	96	95					7																	55459595		2203	4300	6503	SO:0001583	missense	55915			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.314G>C	chr7.hg19:g.55459595G>C	ENSP00000254770:p.Gly105Ala		B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	hg19	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661548	0.88154	.	.	ENSG00000132434	ENST00000254770	D	0.91631	-2.88	5.79	5.79	0.91817	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	D	0.97046	0.9035	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97510	1.0066	10	0.87932	D	0	.	18.5771	0.91159	0.0:0.0:1.0:0.0	.	105	Q9NS86	LANC2_HUMAN	A	105	ENSP00000254770:G105A	ENSP00000254770:G105A	G	+	2	0	LANCL2	55427089	1.000000	0.71417	0.983000	0.44433	0.808000	0.45660	9.150000	0.94667	2.727000	0.93392	0.655000	0.94253	GGC		0.393	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		C	55459595	G	C	55459595	3	2	116	1	0	0	0	0	1	0	0	0	8623	1203	42	4	320	4	LANCL2	7	55459595	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	11199785	55459595	103679068	31	7117											
ABCB1	5243	hgsc.bcm.edu	37	7	87148688	87148688	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr7:87148688C>T	ENST00000265724.3	-	24	3298	c.2881G>A	c.(2881-2883)Gcc>Acc	p.A961T	ABCB1_ENST00000543898.1_Missense_Mutation_p.A897T|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	961	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ACCAAGTAGGCTCCAAACCGG	0.383																																																0													98	89	92					7																	87148688		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2881G>A	chr7.hg19:g.87148688C>T	ENSP00000265724:p.Ala961Thr		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	hg19	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171264	0.78452	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89123	-2.47;-2.47	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.047985	0.85682	D	0.000000	D	0.93501	0.7926	M	0.88640	2.97	0.54753	D	0.999982	B;P	0.45348	0.225;0.856	B;P	0.48598	0.116;0.583	D	0.94005	0.7279	10	0.66056	D	0.02	-19.2761	20.0366	0.97561	0.0:1.0:0.0:0.0	.	897;961	B5AK60;P08183	.;MDR1_HUMAN	T	742;961;897	ENSP00000265724:A961T;ENSP00000444095:A897T	ENSP00000265724:A961T	A	-	1	0	ABCB1	86986624	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.801000	0.69115	2.736000	0.93811	0.561000	0.74099	GCC		0.383	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		T	87148688	C	T	87148688	3	4	116	1	0	0	0	0	1	0	0	0	40	797	28	2	985	2	ABCB1	7	87148688	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08	31689093	87148688	71989975	32	7118											
CALD1	800	hgsc.bcm.edu	37	7	134618538	134618538	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr7:134618538G>A	ENST00000361675.2	+	5	1247	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000393118.2_Intron			Q05682	CALD1_HUMAN	caldesmon 1	340	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.E340K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						aagggcagcagaggagaggca	0.527																																																1	Substitution - Missense(1)	endometrium(1)																																								SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1018G>A	chr7.hg19:g.134618538G>A	ENSP00000354826:p.Glu340Lys		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	hg19	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	0.886	-0.727229	0.03158	.	.	ENSG00000122786	ENST00000361675	T	0.40225	1.04	3.67	1.57	0.23409	.	.	.	.	.	T	0.31104	0.0786	L	0.29908	0.895	0.80722	D	1	P	0.47253	0.892	P	0.45681	0.49	T	0.02639	-1.1130	8	.	.	.	.	7.2358	0.26070	0.0:0.1886:0.6169:0.1946	.	340	Q05682	CALD1_HUMAN	K	340	ENSP00000354826:E340K	.	E	+	1	0	CALD1	134269078	1.000000	0.71417	0.018000	0.16275	0.194000	0.23727	3.554000	0.53720	-0.013000	0.14199	0.462000	0.41574	GAG		0.527	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		A	134618538	G	A	134618538	3	1	116	1	0	0	0	0	1	0	0	0	2583	943	33	2	1085	2	CALD1	7	134618538	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	47469850	134618538	24520125	33	7119											
TMEM67	91147	hgsc.bcm.edu	37	8	94792858	94792858	+	Missense_Mutation	SNP	A	A	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr8:94792858A>C	ENST00000453321.3	+	8	810	c.752A>C	c.(751-753)aAt>aCt	p.N251T	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.N170T	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	251				N -> S (in Ref. 1; BAG52507). {ECO:0000305}.	cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GCTCTTGGAAATATGTGTGTG	0.363																																																0													257	245	249					8																	94792858		2203	4300	6503	SO:0001583	missense	91147			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.752A>C	chr8.hg19:g.94792858A>C	ENSP00000389998:p.Asn251Thr		B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	hg19	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588377	0.86851	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623	D;D;D	0.99167	-5.51;-5.51;-5.51	5.86	5.86	0.93980	.	0.091847	0.64402	D	0.000001	D	0.99318	0.9761	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99150	1.0858	10	0.87932	D	0	-22.3661	16.2559	0.82517	1.0:0.0:0.0:0.0	.	251;170	Q5HYA8;G5E9H2	MKS3_HUMAN;.	T	148;251;170	ENSP00000388671:N148T;ENSP00000389998:N251T;ENSP00000386966:N170T	ENSP00000314488:N241T	N	+	2	0	TMEM67	94862034	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.629000	0.90983	2.239000	0.73571	0.528000	0.53228	AAT		0.363	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		C	94792858	A	C	94792858	3	2	116	1	0	0	0	0	1	0	0	0	16201	101	4	5	920	5	TMEM67	8	94792858	Missense_Mutation	SNP	A	TCGA-AL-3468-01A-01D-1252-08		94792858	51571164	34	7120											
KCNS2	3788	hgsc.bcm.edu	37	8	99441466	99441466	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr8:99441466delA	ENST00000287042.4	+	2	1609	c.1259delA	c.(1258-1260)caafs	p.Q420fs	KCNS2_ENST00000521839.1_Frame_Shift_Del_p.Q420fs	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	420					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TACCGGCGCCAAAAGCAACTT	0.498																																					Pancreas(138;844 2489 9202 24627)											0													116	116	116					8																	99441466		2203	4300	6503	SO:0001589	frameshift_variant	3788			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1259delA	chr8.hg19:g.99441466delA	ENSP00000287042:p.Gln420fs		A8KAN1	Frame_Shift_Del	DEL	ENST00000287042.4	hg19	CCDS6279.1																																																																																				0.498	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		-	99441466	A	-	99441466	7	5	116	1	0	1	0	1	0	0	0	0	8091	130	5	0	1261	0	KCNS2	8	99441466	Frame_Shift_Del	DEL	A	TCGA-AL-3468-01A-01D-1252-08	4648608	99441466	46922556	35	7121											
ZNF658	26149	hgsc.bcm.edu	37	9	40774146	40774146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr9:40774146C>A	ENST00000602553.1	-	5	1423	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	ZNF658_ENST00000441795.1_Nonsense_Mutation_p.E375*|ZNF658_ENST00000377626.3_Nonsense_Mutation_p.E377*			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AATTTATCTTCTGTGTGAATT	0.403																																																0													205	209	207					9																	40774146		2203	4300	6503	SO:0001587	stop_gained	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1129G>T	chr9.hg19:g.40774146C>A	ENSP00000473484:p.Glu377*		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Nonsense_Mutation	SNP	ENST00000602553.1	hg19	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	28.0	4.885852	0.91814	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	.	.	.	1.96	0.962	0.19643	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.0678	0.30672	0.0:0.7452:0.2548:0.0	.	.	.	.	X	375;377	.	ENSP00000366853:E377X	E	-	1	0	ZNF658	40764146	0.022000	0.18835	0.016000	0.15963	0.058000	0.15608	1.461000	0.35255	0.360000	0.24265	0.384000	0.25694	GAA		0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		A	40774146	C	A	40774146	4	1	116	1	0	0	0	0	0	1	0	0	18074	922	32	4	2054	4	ZNF658	9	40774146	Nonsense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08		40774146	100439285	36	7122											
FLJ46321	389763	hgsc.bcm.edu	37	9	84609703	84609703	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr9:84609703delA	ENST00000344803.2	+	4	4365	c.4318delA	c.(4318-4320)aaafs	p.K1440fs		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1440					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGGCTTGGGAAAGCTCAGCA	0.552																																																0													41	41	41					9																	84609703		1915	4112	6027	SO:0001589	frameshift_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4318delA	chr9.hg19:g.84609703delA	ENSP00000341988:p.Lys1440fs			Frame_Shift_Del	DEL	ENST00000344803.2	hg19	CCDS47986.1																																																																																				0.552	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		-	84609703	A	-	84609703	7	5	116	1	0	1	0	1	0	0	0	0	5934	247	9	0	4332	0	FLJ46321	9	84609703	Frame_Shift_Del	DEL	A	TCGA-AL-3468-01A-01D-1252-08	43835557	84609703	56603728	37	7123											
COL5A1	1289	hgsc.bcm.edu	37	9	137714852	137714852	+	Silent	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr9:137714852T>C	ENST00000371817.3	+	60	5031	c.4617T>C	c.(4615-4617)ccT>ccC	p.P1539P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1539	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGGTCCGCCTGGTCCAAAAG	0.657																																																0													101	77	85					9																	137714852		2203	4300	6503	SO:0001819	synonymous_variant	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4617T>C	chr9.hg19:g.137714852T>C			Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	hg19	CCDS6982.1																																																																																				0.657	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		C	137714852	T	C	137714852	2	2	116	1	0	0	0	0	0	0	0	1	3698	1567	55	3		3	COL5A1	9	137714852	Silent	SNP	T	TCGA-AL-3468-01A-01D-1252-08	53105149	137714852	3498579	38	7124											
ZNF503	84858	hgsc.bcm.edu	37	10	77159027	77159027	+	Missense_Mutation	SNP	G	G	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr10:77159027G>T	ENST00000372524.4	-	2	1907	c.1421C>A	c.(1420-1422)cCg>cAg	p.P474Q	ZNF503_ENST00000535216.1_Missense_Mutation_p.P474Q|ZNF503-AS2_ENST00000466942.2_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	474	Ala-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					ACCGTGCAGCGGGTGCGTGGG	0.721																																																0													10	13	12					10																	77159027		2191	4274	6465	SO:0001583	missense	84858			AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1421C>A	chr10.hg19:g.77159027G>T	ENSP00000361602:p.Pro474Gln		Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	hg19	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106906	0.56291	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.49432	0.78;0.78	4.45	3.54	0.40534	.	0.119276	0.64402	D	0.000019	T	0.57272	0.2042	M	0.69358	2.11	0.46416	D	0.999039	D	0.65815	0.995	P	0.56865	0.808	T	0.59716	-0.7402	10	0.66056	D	0.02	-17.0629	9.0142	0.36159	0.0794:0.0:0.7743:0.1463	.	474	Q96F45	ZN503_HUMAN	Q	474;474;437	ENSP00000361602:P474Q;ENSP00000438988:P474Q	ENSP00000361594:P437Q	P	-	2	0	ZNF503	76829033	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.106000	0.71511	1.088000	0.41272	0.643000	0.83706	CCG		0.721	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		T	77159027	G	T	77159027	3	4	116	1	0	0	0	0	1	0	0	0	17956	1116	39	4	523	4	ZNF503	10	77159027	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08		77159027	58375720	39	7125											
CTBP2	1488	hgsc.bcm.edu	37	10	126715159	126715159	+	Intron	SNP	A	A	G	rs529129641|rs372118432	byFrequency	TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr10:126715159A>G	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Silent_p.A390A|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TCTGCAGAGGAGCCGCAGCGC	0.701																																																0													9	7	8					10																	126715159		2126	4169	6295	SO:0001627	intron_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12406T>C	chr10.hg19:g.126715159A>G			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	hg19	CCDS7643.1																																																																																				0.701	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		G	126715159	A	G	126715159	1	3	116	0	1	0	0	0	0	0	0	0	4000	291	11	3		3	CTBP2	10	126715159	Intron	SNP	A	TCGA-AL-3468-01A-01D-1252-08	49556132	126715159	8819588	40	7126											
KNDC1	85442	hgsc.bcm.edu	37	10	135009191	135009191	+	Missense_Mutation	SNP	G	G	A	rs541722509		TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr10:135009191G>A	ENST00000304613.3	+	10	1621	c.1600G>A	c.(1600-1602)Gtt>Att	p.V534I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V534I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V469I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	534	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGTGGCCGCCGTTCTGTGGAC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15057	0.0		0.0	False		,,,				2504	0.0															0													48	44	45					10																	135009191		2202	4300	6502	SO:0001583	missense	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1600G>A	chr10.hg19:g.135009191G>A	ENSP00000304437:p.Val534Ile		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494320	0.26774	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.41400	1.0;1.0;1.0	4.63	2.32	0.28847	KIND (2);	0.189090	0.34067	N	0.004291	T	0.24851	0.0603	L	0.45581	1.43	0.38564	D	0.949782	P;B	0.45428	0.858;0.221	B;B	0.32928	0.155;0.051	T	0.08806	-1.0704	10	0.32370	T	0.25	-39.5659	4.8812	0.13681	0.3953:0.0:0.6047:0.0	.	469;534	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	I	534;534;469	ENSP00000304437:V534I;ENSP00000357561:V534I;ENSP00000357560:V469I	ENSP00000304437:V534I	V	+	1	0	KNDC1	134859181	0.108000	0.22018	0.624000	0.29186	0.129000	0.20672	1.040000	0.30278	1.085000	0.41206	0.306000	0.20318	GTT		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		A	135009191	G	A	135009191	3	1	116	1	0	0	0	0	1	0	0	0	8428	1145	40	1	1638	1	KNDC1	10	135009191	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	8294032	135009191	525556	41	7127											
OR5P2	120065	hgsc.bcm.edu	37	11	7817940	7817940	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr11:7817940A>T	ENST00000329434.2	-	1	580	c.550T>A	c.(550-552)Tcc>Acc	p.S184T	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAGAACAGGAGAGTTCAAGT	0.398																																																0													72	83	80					11																	7817940		2102	4292	6394	SO:0001583	missense	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.550T>A	chr11.hg19:g.7817940A>T	ENSP00000331823:p.Ser184Thr		Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	hg19	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016481	0.35606	.	.	ENSG00000183303	ENST00000329434	T	0.00282	8.31	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.00468	0.0015	M	0.78637	2.42	0.29905	N	0.824079	P	0.40000	0.698	P	0.48524	0.58	T	0.31110	-0.9955	10	0.52906	T	0.07	-52.8073	13.6117	0.62083	1.0:0.0:0.0:0.0	.	184	Q8WZ92	OR5P2_HUMAN	T	184	ENSP00000331823:S184T	ENSP00000331823:S184T	S	-	1	0	OR5P2	7774516	0.339000	0.24784	0.995000	0.50966	0.033000	0.12548	0.825000	0.27393	2.313000	0.78055	0.454000	0.30748	TCC		0.398	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		T	7817940	A	T	7817940	3	4	116	1	0	0	0	0	1	0	0	0	11180	304	11	5	422	5	OR5P2	11	7817940	Missense_Mutation	SNP	A	TCGA-AL-3468-01A-01D-1252-08		7817940	127188576	42	7128											
NXF1	10482	hgsc.bcm.edu	37	11	62567920	62567921	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr11:62567920_62567921insG	ENST00000532297.1	-	11	1573_1574	c.944_945insC	c.(943-945)ctgfs	p.L315fs	NXF1_ENST00000439713.2_Frame_Shift_Ins_p.L315fs|NXF1_ENST00000531131.1_Frame_Shift_Ins_p.L178fs|NXF1_ENST00000294172.2_Frame_Shift_Ins_p.L315fs|NXF1_ENST00000531709.2_Frame_Shift_Ins_p.L315fs			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	315					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCTAGCTTCAGCCCCTTTAT	0.55																																																0																																										SO:0001589	frameshift_variant	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.944_945insC	chr11.hg19:g.62567920_62567921insG	ENSP00000436679:p.Leu315fs		B4E269|Q99799|Q9UQL2	Frame_Shift_Ins	INS	ENST00000532297.1	hg19	CCDS8037.1																																																																																				0.55	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		G	62567921	-	G	62567920	7	5	116	1	0	1	1	0	0	0	0	0	10784	813	29	0	1017	0	NXF1	11	62567920	Frame_Shift_Ins	INS	-	TCGA-AL-3468-01A-01D-1252-08	54749980	62567920	72438596	43	7129	63	2									
NXF1	10482	hgsc.bcm.edu	37	11	62567921	62567921	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr11:62567921A>G	ENST00000532297.1	-	11	1573	c.944T>C	c.(943-945)cTg>cCg	p.L315P	NXF1_ENST00000439713.2_Missense_Mutation_p.L315P|NXF1_ENST00000531131.1_Missense_Mutation_p.L178P|NXF1_ENST00000294172.2_Missense_Mutation_p.L315P|NXF1_ENST00000531709.2_Missense_Mutation_p.L315P			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	315					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCTAGCTTCAGCCCCTTTAT	0.547																																																0													150	105	120					11																	62567921		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.944T>C	chr11.hg19:g.62567921A>G	ENSP00000436679:p.Leu315Pro		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	hg19	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.200863	0.58234	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	4.91	3.78	0.43462	.	0.074476	0.56097	D	0.000032	T	0.78622	0.4312	H	0.96996	3.92	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.975;0.997;0.999	T	0.80160	-0.1498	10	0.49607	T	0.09	-11.668	8.613	0.33815	0.9087:0.0:0.0913:0.0	.	178;358;328;315	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	P	315;315;358;315	ENSP00000294172:L315P;ENSP00000436679:L315P;ENSP00000435742:L358P;ENSP00000408864:L315P	ENSP00000294172:L315P	L	-	2	0	NXF1	62324497	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.818000	0.91991	0.902000	0.36520	0.528000	0.53228	CTG		0.547	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		G	62567921	A	G	62567921	3	3	116	1	0	0	0	0	1	0	0	0	10784	188	7	3	1018	3	NXF1	11	62567921	Missense_Mutation	SNP	A	TCGA-AL-3468-01A-01D-1252-08	1	62567921	72438595	44	7130	63	2									
CD248	57124	hgsc.bcm.edu	37	11	66082566	66082566	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr11:66082566delT	ENST00000311330.3	-	1	1949	c.1933delA	c.(1933-1935)atcfs	p.I645fs	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	645	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						TCCCTTGGGATTTGGGGGGCT	0.657																																																0													33	37	36					11																	66082566		2199	4291	6490	SO:0001589	frameshift_variant	57124			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1933delA	chr11.hg19:g.66082566delT	ENSP00000308117:p.Ile645fs		Q2M2V5|Q3SX55|Q96KB6	Frame_Shift_Del	DEL	ENST00000311330.3	hg19	CCDS8134.1																																																																																				0.657	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		-	66082566	T	-	66082566	7	5	116	1	0	1	0	1	0	0	0	0	2991	1493	52	0	344	0	CD248	11	66082566	Frame_Shift_Del	DEL	T	TCGA-AL-3468-01A-01D-1252-08	3514645	66082566	68923950	45	7131											
LTBR	4055	hgsc.bcm.edu	37	12	6494285	6494285	+	Silent	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr12:6494285C>T	ENST00000228918.4	+	3	617	c.291C>T	c.(289-291)atC>atT	p.I97I	LTBR_ENST00000543190.1_5'UTR|LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000541102.1_5'UTR|LTBR_ENST00000539925.1_Silent_p.I78I	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	97					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						ACCTGACCATCTGCCAGCTGT	0.617																																																0													152	142	145					12																	6494285		2203	4300	6503	SO:0001819	synonymous_variant	4055			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.291C>T	chr12.hg19:g.6494285C>T			B7Z1D2|D3DUR2|F5GXE7	Silent	SNP	ENST00000228918.4	hg19	CCDS8544.1																																																																																				0.617	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			T	6494285	C	T	6494285	2	4	116	1	0	0	0	0	0	0	0	1	9079	903	32	2		2	LTBR	12	6494285	Silent	SNP	C	TCGA-AL-3468-01A-01D-1252-08		6494285	127357610	46	7132											
TM7SF3	51768	hgsc.bcm.edu	37	12	27156249	27156249	+	Missense_Mutation	SNP	G	G	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr12:27156249G>T	ENST00000343028.4	-	2	391	c.166C>A	c.(166-168)Cat>Aat	p.H56N	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	56						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GAAATATCATGCAAAATAGCT	0.343																																																0													61	58	59					12																	27156249		2203	4297	6500	SO:0001583	missense	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.166C>A	chr12.hg19:g.27156249G>T	ENSP00000342322:p.His56Asn		B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	hg19	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771441	0.31320	.	.	ENSG00000064115	ENST00000343028;ENST00000512808;ENST00000545600	T	0.28255	1.62	5.57	5.57	0.84162	.	0.502867	0.22125	N	0.064269	T	0.20170	0.0485	N	0.22421	0.69	0.20074	N	0.999935	B	0.21520	0.057	B	0.15870	0.014	T	0.11348	-1.0591	10	0.19590	T	0.45	-2.76	12.4317	0.55577	0.0:0.0:0.8326:0.1674	.	56	Q9NS93	TM7S3_HUMAN	N	56;35;61	ENSP00000342322:H56N	ENSP00000342322:H56N	H	-	1	0	TM7SF3	27047516	0.757000	0.28394	0.164000	0.22755	0.847000	0.48162	1.951000	0.40333	2.788000	0.95919	0.650000	0.86243	CAT		0.343	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		T	27156249	G	T	27156249	3	4	116	1	0	0	0	0	1	0	0	0	15980	1319	46	4	1590	4	TM7SF3	12	27156249	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	20661964	27156249	106695646	47	7133											
TIMELESS	8914	hgsc.bcm.edu	37	12	56822670	56822670	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr12:56822670C>T	ENST00000553532.1	-	11	1451	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	TIMELESS_ENST00000229201.4_Missense_Mutation_p.R433H|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CACTCACCGGCGTGCCCAGGA	0.517																																																0													88	77	81					12																	56822670		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1301G>A	chr12.hg19:g.56822670C>T	ENSP00000450607:p.Arg434His			Missense_Mutation	SNP	ENST00000553532.1	hg19	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163112	0.94727	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.10005	2.92;2.93	4.95	4.95	0.65309	.	0.057662	0.64402	D	0.000001	T	0.32645	0.0836	M	0.83012	2.62	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.58780	0.845;0.704	T	0.12243	-1.0555	10	0.51188	T	0.08	.	17.3351	0.87278	0.0:1.0:0.0:0.0	.	433;434	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	H	433;434	ENSP00000229201:R433H;ENSP00000450607:R434H	ENSP00000229201:R434H	R	-	2	0	TIMELESS	55108937	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.503000	0.81632	2.454000	0.82982	0.462000	0.41574	CGC		0.517	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		T	56822670	C	T	56822670	3	4	116	1	0	0	0	0	1	0	0	0	15909	768	27	1	2401	1	TIMELESS	12	56822670	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08	29666421	56822670	77029225	48	7134											
GRIP1	23426	hgsc.bcm.edu	37	12	66765685	66765685	+	Missense_Mutation	SNP	G	G	A	rs367781032		TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr12:66765685G>A	ENST00000398016.3	-	22	2713	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M	GRIP1_ENST00000359742.4_Missense_Mutation_p.T934M|GRIP1_ENST00000286445.7_Missense_Mutation_p.T919M	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.T882K(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CAAACTCATCGTGCTCCCCGA	0.512																																																1	Substitution - Missense(1)	lung(1)						G	MET/THR,MET/THR	0,4056		0,0,2028	53	57	56		2600,2645	6.1	1	12		56	2,8392		0,2,4195	no	missense,missense	GRIP1	NM_001178074.1,NM_021150.3	81,81	0,2,6223	AA,AG,GG		0.0238,0.0,0.0161	benign,benign	867/1062,882/1077	66765685	2,12448	2028	4197	6225	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2645C>T	chr12.hg19:g.66765685G>A	ENSP00000381098:p.Thr882Met		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	hg19	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.77|13.77	2.337198|2.337198	0.41398|0.41398	0.0|0.0	2.38E-4|2.38E-4	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.79352	.|-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.147302	.|0.64402	.|D	.|0.000014	.|D	.|0.84633	.|0.5515	L|L	0.56769|0.56769	1.78|1.78	0.46185|0.46185	D|D	0.998915|0.998915	.|B;D;B;D	.|0.61080	.|0.11;0.981;0.405;0.989	.|B;P;B;P	.|0.57283	.|0.04;0.563;0.058;0.817	.|T	.|0.82078	.|-0.0635	.|9	.|.	.|.	.|.	-13.6657|-13.6657	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|867;934;882;919	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	X|M	734|882;934;919;867;826;759	.|ENSP00000381098:T882M;ENSP00000352780:T934M;ENSP00000286445:T919M;ENSP00000446047:T867M;ENSP00000446024:T826M;ENSP00000446011:T759M	.|.	R|T	-|-	1|2	2|0	GRIP1|GRIP1	65051952|65051952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	5.059000|5.059000	0.64306|0.64306	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.512	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			A	66765685	G	A	66765685	3	1	116	1	0	0	0	0	1	0	0	0	6789	1145	40	1	597	1	GRIP1	12	66765685	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	9943015	66765685	67086210	49	7135											
SSH1	54434	hgsc.bcm.edu	37	12	109182194	109182194	+	Missense_Mutation	SNP	T	T	A			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr12:109182194T>A	ENST00000326495.5	-	15	2813	c.2720A>T	c.(2719-2721)cAc>cTc	p.H907L	SSH1_ENST00000360239.3_Missense_Mutation_p.H595L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	907	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACTACTGGTGTGGTCCAGGCG	0.587																																																0													37	39	38					12																	109182194		2190	4270	6460	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2720A>T	chr12.hg19:g.109182194T>A	ENSP00000315713:p.His907Leu		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	hg19	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357131	0.41801	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12147	2.84;2.71	5.64	4.43	0.53597	.	0.418583	0.26345	N	0.024917	T	0.32526	0.0832	M	0.62723	1.935	0.36858	D	0.888238	P;D	0.89917	0.842;1.0	P;D	0.83275	0.477;0.996	T	0.26916	-1.0089	10	0.66056	D	0.02	-33.6502	11.6178	0.51099	0.1332:0.0:0.0:0.8668	.	907;595	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	L	595;907	ENSP00000353374:H595L;ENSP00000315713:H907L	ENSP00000315713:H907L	H	-	2	0	SSH1	107706323	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	1.902000	0.39848	2.160000	0.67779	0.528000	0.53228	CAC		0.587	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		A	109182194	T	A	109182194	3	1	116	1	0	0	0	0	1	0	0	0	15189	1696	59	5	433	5	SSH1	12	109182194	Missense_Mutation	SNP	T	TCGA-AL-3468-01A-01D-1252-08	42416509	109182194	24669701	50	7136											
ATP7B	540	hgsc.bcm.edu	37	13	52548120	52548120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr13:52548120delT	ENST00000242839.4	-	2	1392	c.1236delA	c.(1234-1236)gaafs	p.E412fs	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Frame_Shift_Del_p.E301fs|ATP7B_ENST00000344297.5_Frame_Shift_Del_p.E412fs|ATP7B_ENST00000418097.2_Frame_Shift_Del_p.E412fs|ATP7B_ENST00000400370.3_Frame_Shift_Del_p.E412fs|ATP7B_ENST00000542656.1_Frame_Shift_Del_p.E380fs|ATP7B_ENST00000448424.2_Frame_Shift_Del_p.E412fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	412	HMA 4. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CAGCTCTGAGTTCTTCTGGGC	0.468									Wilson disease																																							0													105	101	102					13																	52548120		1930	4134	6064	SO:0001589	frameshift_variant	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1236delA	chr13.hg19:g.52548120delT	ENSP00000242839:p.Glu412fs		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Frame_Shift_Del	DEL	ENST00000242839.4	hg19	CCDS41892.1																																																																																				0.468	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		-	52548120	T	-	52548120	7	5	116	1	0	1	0	1	0	0	0	0	1191	1722	60	0	3241	0	ATP7B	13	52548120	Frame_Shift_Del	DEL	T	TCGA-AL-3468-01A-01D-1252-08		52548120	62621758	51	7137											
KIAA0586	9786	hgsc.bcm.edu	37	14	58949256	58949256	+	Silent	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr14:58949256C>T	ENST00000556134.1	+	22	3199	c.2925C>T	c.(2923-2925)ctC>ctT	p.L975L	KIAA0586_ENST00000261244.5_Silent_p.L914L|KIAA0586_ENST00000354386.6_Silent_p.L1043L|KIAA0586_ENST00000423743.3_Silent_p.L946L|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	975					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGCGCCCTCCAGCTTTTTG	0.378																																																0													51	49	49					14																	58949256		1851	4103	5954	SO:0001819	synonymous_variant	9786			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2925C>T	chr14.hg19:g.58949256C>T			B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	hg19	CCDS58321.1																																																																																				0.378	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		T	58949256	C	T	58949256	2	4	116	1	0	0	0	0	0	0	0	1	8188	842	30	2		2	KIAA0586	14	58949256	Silent	SNP	C	TCGA-AL-3468-01A-01D-1252-08		58949256	48400284	52	7138											
TRIP11	9321	hgsc.bcm.edu	37	14	92491671	92491671	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr14:92491671G>C	ENST00000267622.4	-	3	668	c.295C>G	c.(295-297)Caa>Gaa	p.Q99E		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	99					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGTTGAAGTTGATTTCGGTAA	0.308			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													189	161	170					14																	92491671		2203	4299	6502	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.295C>G	chr14.hg19:g.92491671G>C	ENSP00000267622:p.Gln99Glu		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	hg19	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	g	10.13	1.265895	0.23136	.	.	ENSG00000100815	ENST00000267622	T	0.65732	-0.17	5.5	4.6	0.57074	.	0.159691	0.45606	N	0.000356	T	0.57519	0.2059	L	0.55481	1.735	0.32399	N	0.552188	B	0.09022	0.002	B	0.11329	0.006	T	0.60110	-0.7327	10	0.20046	T	0.44	.	16.3096	0.82864	0.0:0.1325:0.8675:0.0	.	99	Q15643	TRIPB_HUMAN	E	99	ENSP00000267622:Q99E	ENSP00000267622:Q99E	Q	-	1	0	TRIP11	91561424	1.000000	0.71417	0.026000	0.17262	0.472000	0.32918	3.533000	0.53561	1.303000	0.44873	0.563000	0.77884	CAA		0.308	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			C	92491671	G	C	92491671	3	2	116	1	0	0	0	0	1	0	0	0	16560	1299	45	4	5720	4	TRIP11	14	92491671	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	33542415	92491671	14857869	53	7139											
EIF5	1983	hgsc.bcm.edu	37	14	103807312	103807312	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr14:103807312delA	ENST00000216554.3	+	12	1895	c.1219delA	c.(1219-1221)aagfs	p.K407fs	EIF5_ENST00000558506.1_Frame_Shift_Del_p.K407fs|EIF5_ENST00000392715.2_Frame_Shift_Del_p.K407fs	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	407					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			GGTGTATTCGAAGGCTGCCAG	0.378																																																0													133	112	119					14																	103807312		2203	4300	6503	SO:0001589	frameshift_variant	1983			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.1219delA	chr14.hg19:g.103807312delA	ENSP00000216554:p.Lys407fs		Q53XB3|Q9H5N2|Q9UG48	Frame_Shift_Del	DEL	ENST00000216554.3	hg19	CCDS9980.1																																																																																				0.378	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		-	103807312	A	-	103807312	7	5	116	1	0	1	0	1	0	0	0	0	5042	247	9	0	1257	0	EIF5	14	103807312	Frame_Shift_Del	DEL	A	TCGA-AL-3468-01A-01D-1252-08	11315641	103807312	3542228	54	7140											
USP3	9960	hgsc.bcm.edu	37	15	63882867	63882867	+	Missense_Mutation	SNP	T	T	G			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr15:63882867T>G	ENST00000380324.3	+	15	1534	c.1405T>G	c.(1405-1407)Tct>Gct	p.S469A	USP3_ENST00000539772.1_Missense_Mutation_p.S220A|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3_ENST00000268049.7_Missense_Mutation_p.S447A|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.S452A|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.S380A|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.S425A|USP3-AS1_ENST00000559737.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	469	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CAGGGTTGGTTCTGGACATTA	0.403																																																0													119	113	115					15																	63882867		2203	4300	6503	SO:0001583	missense	9960			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"Ubiquitin-specific peptidases"	12626	protein-coding gene	gene with protein product		604728	"ubiquitin specific protease 3"			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1405T>G	chr15.hg19:g.63882867T>G	ENSP00000369681:p.Ser469Ala		B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	hg19	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.555531	0.65425	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000538686	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	6.07	6.07	0.98685	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	L	0.48174	1.505	0.58432	D	0.999999	B;B;B;B	0.29378	0.204;0.243;0.131;0.243	B;B;B;B	0.28849	0.058;0.095;0.078;0.078	T	0.06303	-1.0834	10	0.15066	T	0.55	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	425;425;447;469	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	A	425;469;447;220;300	ENSP00000445828:S425A;ENSP00000369681:S469A;ENSP00000268049:S447A;ENSP00000445642:S220A	ENSP00000268049:S447A	S	+	1	0	USP3	61669920	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	8.012000	0.88631	2.326000	0.78906	0.533000	0.62120	TCT		0.403	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			G	63882867	T	G	63882867	3	3	116	1	0	0	0	0	1	0	0	0	17065	1783	62	5	1463	5	USP3	15	63882867	Missense_Mutation	SNP	T	TCGA-AL-3468-01A-01D-1252-08		63882867	38648525	55	7141											
CRTC3	64784	hgsc.bcm.edu	37	15	91161146	91161146	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr15:91161146G>C	ENST00000268184.6	+	8	649	c.645G>C	c.(643-645)gaG>gaC	p.E215D	CRTC3_ENST00000420329.2_Missense_Mutation_p.E215D|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	215					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TGAAAGAAGAGAATCTGTTAA	0.473			T	MAML2	salivary gland mucoepidermoid																																		Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													96	87	90					15																	91161146		2198	4298	6496	SO:0001583	missense	64784				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.645G>C	chr15.hg19:g.91161146G>C	ENSP00000268184:p.Glu215Asp		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	hg19	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735287	0.69189	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.47528	0.84;0.84	5.12	1.05	0.20165	Transducer of regulated CREB activity, middle domain (1);	0.179858	0.47093	D	0.000248	T	0.47192	0.1432	L	0.44542	1.39	0.47123	D	0.999322	P;P	0.37370	0.592;0.537	P;P	0.51516	0.672;0.542	T	0.32903	-0.9889	10	0.39692	T	0.17	-15.2878	5.8106	0.18463	0.2477:0.1421:0.6102:0.0	.	215;215	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	D	179;215;215	ENSP00000268184:E215D;ENSP00000416573:E215D	ENSP00000268184:E215D	E	+	3	2	CRTC3	88962150	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.158000	0.31737	0.318000	0.23185	0.467000	0.42956	GAG		0.473	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		C	91161146	G	C	91161146	3	2	116	1	0	0	0	0	1	0	0	0	3903	933	33	4	675	4	CRTC3	15	91161146	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	27278279	91161146	11370246	56	7142											
NR2F2	7026	hgsc.bcm.edu	37	15	96875754	96875755	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr15:96875754_96875755insT	ENST00000394166.3	+	1	1809_1810	c.420_421insT	c.(421-423)aaafs	p.K141fs	NR2F2_ENST00000421109.2_Intron|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000394171.2_5'Flank	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	141	Interaction with ZFPM2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AAAAGTGCCTCAAAGTGGGCAT	0.604																																																0																																										SO:0001589	frameshift_variant	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	Exception_encountered	chr15.hg19:g.96875754_96875755insT	ENSP00000377721:p.Lys141fs		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Frame_Shift_Ins	INS	ENST00000394166.3	hg19	CCDS10375.1																																																																																				0.604	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			T	96875755	-	T	96875754	7	5	116	1	0	1	1	0	0	0	0	0	10630	813	29	0	469	0	NR2F2	15	96875754	Frame_Shift_Ins	INS	-	TCGA-AL-3468-01A-01D-1252-08	5714608	96875754	5655638	57	7143											
CACNA1H	8912	hgsc.bcm.edu	37	16	1263882	1263882	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr16:1263882T>C	ENST00000348261.5	+	27	5128	c.4880T>C	c.(4879-4881)aTc>aCc	p.I1627T	CACNA1H_ENST00000358590.4_Missense_Mutation_p.I1621T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.I1621T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1627					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	ACCTTCATCATCTGTGTCAAC	0.637																																																0													77	76	76					16																	1263882		2103	4238	6341	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4880T>C	chr16.hg19:g.1263882T>C	ENSP00000334198:p.Ile1627Thr		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	hg19	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611627	0.66558	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98192	-4.78;-4.78	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	M	0.89904	3.07	0.49798	D	0.999823	D;D;D;D;P	0.89917	0.999;1.0;0.998;0.999;0.893	P;D;D;D;P	0.79108	0.895;0.992;0.964;0.986;0.626	D	0.99449	1.0940	10	0.87932	D	0	.	12.4929	0.55909	0.0:0.0:0.0:1.0	.	373;362;368;1621;1627	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	T	1627;1621	ENSP00000334198:I1627T;ENSP00000351401:I1621T	ENSP00000334198:I1627T	I	+	2	0	CACNA1H	1203883	1.000000	0.71417	0.955000	0.39395	0.467000	0.32768	7.236000	0.78154	1.807000	0.52817	0.482000	0.46254	ATC		0.637	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		C	1263882	T	C	1263882	3	2	116	1	0	0	0	0	1	0	0	0	2547	1435	50	3	4982	3	CACNA1H	16	1263882	Missense_Mutation	SNP	T	TCGA-AL-3468-01A-01D-1252-08		1263882	89090871	58	7144											
SRCAP	10847	hgsc.bcm.edu	37	16	30736125	30736125	+	Missense_Mutation	SNP	C	C	G	rs371358460		TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr16:30736125C>G	ENST00000262518.4	+	25	5765	c.5380C>G	c.(5380-5382)Cca>Gca	p.P1794A	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1636A|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1732A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1794	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			gagccctgccccagttcctac	0.652																																																0								C	ALA/PRO	0,4394		0,0,2197	47	41	43		5380	3.9	0.9	16		43	1,8597	1.2+/-3.3	0,1,4298	no	missense	SRCAP	NM_006662.2	27	0,1,6495	GG,GC,CC		0.0116,0.0,0.0077	benign	1794/3231	30736125	1,12991	2197	4299	6496	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5380C>G	chr16.hg19:g.30736125C>G	ENSP00000262518:p.Pro1794Ala		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	9.997	1.232471	0.22626	0.0	1.16E-4	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92446	-2.7;-2.96;-3.04	5.81	3.86	0.44501	.	0.131464	0.35207	N	0.003362	D	0.83170	0.5196	N	0.19112	0.55	0.23533	N	0.997471	B;B;B	0.12630	0.002;0.006;0.001	B;B;B	0.10450	0.005;0.005;0.002	T	0.72944	-0.4138	10	0.54805	T	0.06	-6.3761	5.5202	0.16927	0.0:0.664:0.1649:0.1711	.	1636;1732;1794	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	A	1794;1732;1636	ENSP00000262518:P1794A;ENSP00000378499:P1732A;ENSP00000343042:P1636A	ENSP00000262518:P1794A	P	+	1	0	SRCAP	30643626	0.022000	0.18835	0.931000	0.37212	0.814000	0.46013	2.321000	0.43805	1.458000	0.47871	0.655000	0.94253	CCA		0.652	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		G	30736125	C	G	30736125	3	3	116	1	0	0	0	0	1	0	0	0	15140	623	22	4	5470	4	SRCAP	16	30736125	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08	29472243	30736125	59618628	59	7145											
NEK8	284086	hgsc.bcm.edu	37	17	27067537	27067537	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr17:27067537C>G	ENST00000268766.6	+	11	1508	c.1474C>G	c.(1474-1476)Ccc>Gcc	p.P492A	AC010761.6_ENST00000582536.1_RNA|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	492					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GGTGCCCATGCCCCCAGGACA	0.567																																					NSCLC(6;19 293 14866 25253 49845)											0													103	96	99					17																	27067537		2203	4300	6503	SO:0001583	missense	284086			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1474C>G	chr17.hg19:g.27067537C>G	ENSP00000268766:p.Pro492Ala		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	hg19	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947298	0.73672	.	.	ENSG00000160602	ENST00000268766	T	0.80824	-1.42	5.36	4.37	0.52481	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.108661	0.64402	N	0.000005	D	0.89979	0.6872	M	0.84683	2.71	0.53688	D	0.999979	D	0.89917	1.0	D	0.76071	0.987	D	0.90846	0.4727	10	0.52906	T	0.07	.	14.7766	0.69736	0.0:0.8496:0.1504:0.0	.	492	Q86SG6	NEK8_HUMAN	A	492	ENSP00000268766:P492A	ENSP00000268766:P492A	P	+	1	0	NEK8	24091664	1.000000	0.71417	0.913000	0.36048	0.984000	0.73092	3.608000	0.54109	1.218000	0.43458	0.555000	0.69702	CCC		0.567	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			G	27067537	C	G	27067537	3	3	116	1	0	0	0	0	1	0	0	0	10332	739	26	4	1516	4	NEK8	17	27067537	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08		27067537	54127673	60	7146											
CACNB1	782	hgsc.bcm.edu	37	17	37331566	37331566	+	Silent	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr17:37331566C>T	ENST00000394303.3	-	14	1884	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	559				L -> M (in Ref. 3; AAA36167). {ECO:0000305}.	axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTTGTCGGTCAGCTCTTCCT	0.662											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)											0													145	161	156					17																	37331566		1894	4098	5992	SO:0001819	synonymous_variant	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1677G>A	chr17.hg19:g.37331566C>T		869	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	hg19	CCDS42311.1																																																																																				0.662	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			T	37331566	C	T	37331566	2	4	116	1	0	0	0	0	0	0	0	1	2554	813	29	2		2	CACNB1	17	37331566	Silent	SNP	C	TCGA-AL-3468-01A-01D-1252-08	10264029	37331566	43863644	61	7147											
CDC6	990	hgsc.bcm.edu	37	17	38447499	38447499	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr17:38447499C>T	ENST00000209728.4	+	3	839	c.368C>T	c.(367-369)tCa>tTa	p.S123L		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	123					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						ATACTTTCTTCAGTTAGAAAA	0.373																																																0													80	77	78					17																	38447499		2203	4300	6503	SO:0001583	missense	990			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.368C>T	chr17.hg19:g.38447499C>T	ENSP00000209728:p.Ser123Leu		Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	hg19	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715080	0.48622	.	.	ENSG00000094804	ENST00000209728	T	0.52295	0.67	5.34	5.34	0.76211	.	0.815336	0.11356	N	0.572480	T	0.50103	0.1596	M	0.63428	1.95	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.36016	-0.9765	10	0.32370	T	0.25	-0.9791	18.3299	0.90264	0.0:1.0:0.0:0.0	.	123	Q99741	CDC6_HUMAN	L	123	ENSP00000209728:S123L	ENSP00000209728:S123L	S	+	2	0	CDC6	35701025	0.320000	0.24616	0.023000	0.16930	0.065000	0.16274	3.873000	0.56093	2.937000	0.99478	0.650000	0.86243	TCA		0.373	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			T	38447499	C	T	38447499	3	4	116	1	0	0	0	0	1	0	0	0	3085	838	29	2	374	2	CDC6	17	38447499	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08	1115933	38447499	42747711	62	7148											
DDX5	1655	hgsc.bcm.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	ACAG	ACAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000580026.1_5'Flank|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs|DDX5_ENST00000450599.2_Intron|CEP95_ENST00000556440.2_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0																																										SO:0001630	splice_region_variant	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	chr17.hg19:g.62500099_62500102delACAG			B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Frame_Shift_Del	DEL	ENST00000225792.5	hg19	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Frame_Shift_Del	-	62500102	ACAG	-	62500099	8	5	116	1	0	1	0	1	0	0	1	0	4369	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-AL-3468-01A-01D-1252-08	24052600	62500099	18695111	63	7149											
KCNJ2	3759	hgsc.bcm.edu	37	17	68171425	68171425	+	Missense_Mutation	SNP	G	G	A	rs199473653		TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr17:68171425G>A	ENST00000243457.3	+	2	628	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R82Q	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	82					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ATTCGCTGGCGGTGGATGCTG	0.512																																																0			GRCh37	CM053932	KCNJ2	M							220	164	183					17																	68171425		2203	4300	6503	SO:0001583	missense	3759			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.245G>A	chr17.hg19:g.68171425G>A	ENSP00000243457:p.Arg82Gln		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	hg19	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689148	0.88735	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95788	-3.81;-3.81	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99379	1.0922	9	.	.	.	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	82	P63252	IRK2_HUMAN	Q	82	ENSP00000441848:R82Q;ENSP00000243457:R82Q	.	R	+	2	0	KCNJ2	65683020	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.662000	0.90505	0.555000	0.69702	CGG		0.512	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		A	68171425	G	A	68171425	3	1	116	1	0	0	0	0	1	0	0	0	8053	1116	39	1	247	1	KCNJ2	17	68171425	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	5671326	68171425	13023785	64	7150											
RAB37	326624	hgsc.bcm.edu	37	17	72736931	72736931	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr17:72736931G>A	ENST00000392613.5	+	2	174	c.118G>A	c.(118-120)Gtc>Atc	p.V40I	RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.V45I|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000392610.1_Missense_Mutation_p.V40I|RAB37_ENST00000528438.1_Missense_Mutation_p.V13I	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	40					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AGACACAGGCGTCGGCAAAAC	0.567																																																0													153	154	153					17																	72736931		2203	4300	6503	SO:0001583	missense	326624			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.118G>A	chr17.hg19:g.72736931G>A	ENSP00000376389:p.Val40Ile		A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	hg19	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799506	0.70567	.	.	ENSG00000172794	ENST00000528438;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392610	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.27	5.27	0.74061	Small GTP-binding protein domain (1);	0.072360	0.53938	D	0.000052	D	0.91442	0.7299	M	0.93241	3.395	0.80722	D	1	P;P	0.50369	0.739;0.934	P;P	0.52627	0.503;0.704	D	0.93664	0.6984	10	0.87932	D	0	.	17.663	0.88197	0.0:0.0:1.0:0.0	.	45;40	A8MYT0;Q96AX2	.;RAB37_HUMAN	I	13;45;40;40;40	ENSP00000432086:V13I;ENSP00000376390:V45I;ENSP00000376389:V40I;ENSP00000376387:V40I	ENSP00000376387:V40I	V	+	1	0	RAB37	70248526	1.000000	0.71417	0.992000	0.48379	0.052000	0.14988	9.248000	0.95456	2.469000	0.83416	0.561000	0.74099	GTC		0.567	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		A	72736931	G	A	72736931	3	1	116	1	0	0	0	0	1	0	0	0	12933	1145	40	1	427	1	RAB37	17	72736931	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	4565506	72736931	8458279	65	7151											
ACOX1	51	hgsc.bcm.edu	37	17	73945931	73945931	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr17:73945931C>T	ENST00000301608.4	-	10	1406	c.1346G>A	c.(1345-1347)tGt>tAt	p.C449Y	ACOX1_ENST00000293217.5_Missense_Mutation_p.C449Y|ACOX1_ENST00000537812.1_Missense_Mutation_p.C411Y	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	449				C -> R (in Ref. 2; AAA18595). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	CACCATGCCACACACCAACTT	0.468																																																0													123	101	108					17																	73945931		2203	4300	6503	SO:0001583	missense	51			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1346G>A	chr17.hg19:g.73945931C>T	ENSP00000301608:p.Cys449Tyr		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	hg19	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	8.054	0.766632	0.15983	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.69175	-0.38;-0.38;-0.38	5.9	2.59	0.31030	Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.983847	0.08367	N	0.956805	T	0.45856	0.1363	N	0.14661	0.345	0.20074	N	0.999931	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.28839	-1.0031	10	0.18276	T	0.48	-0.6261	6.3539	0.21390	0.0:0.5984:0.1198:0.2817	.	381;411;449;449	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	Y	449;449;411;449;381	ENSP00000301608:C449Y;ENSP00000293217:C449Y;ENSP00000441257:C411Y	ENSP00000293217:C449Y	C	-	2	0	ACOX1	71457526	0.001000	0.12720	0.520000	0.27837	0.349000	0.29174	1.001000	0.29783	0.314000	0.23086	-0.157000	0.13467	TGT		0.468	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			T	73945931	C	T	73945931	3	4	116	1	0	0	0	0	1	0	0	0	158	478	17	2	656	2	ACOX1	17	73945931	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08	1209000	73945931	7249279	66	7152											
FAM59A	64762	hgsc.bcm.edu	37	18	29867890	29867890	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr18:29867890G>A	ENST00000269209.6	-	4	673	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Missense_Mutation_p.P224S|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	224	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										AGTTCCAGGGGACTTCGGGTG	0.522																																																0													135	114	121					18																	29867890		2203	4300	6503	SO:0001583	missense	64762			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.670C>T	chr18.hg19:g.29867890G>A	ENSP00000269209:p.Pro224Ser		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	hg19	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672770	0.88445	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15487	2.42;2.42	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.69823	2.125	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.66351	0.93;0.943	T	0.20672	-1.0268	10	0.72032	D	0.01	-23.7807	20.1095	0.97908	0.0:0.0:1.0:0.0	.	224;224	Q9H706;Q9H706-3	FA59A_HUMAN;.	S	224	ENSP00000382165:P224S;ENSP00000269209:P224S	ENSP00000269209:P224S	P	-	1	0	FAM59A	28121888	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.357000	0.97099	2.831000	0.97527	0.655000	0.94253	CCC		0.522	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		A	29867890	G	A	29867890	3	1	116	1	0	0	0	0	1	0	0	0	5594	1174	41	2	1969	2	FAM59A	18	29867890	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08		29867890	48209358	67	7153											
HMSD	284293	hgsc.bcm.edu	37	18	61621714	61621714	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr18:61621714A>G	ENST00000408945.3	+	3	347	c.145A>G	c.(145-147)Att>Gtt	p.I49V	HMSD_ENST00000526932.1_Silent_p.Q14Q|HMSD_ENST00000481726.1_3'UTR	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	49						extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						TCTTGTTGCAATTAACAGAAC	0.348																																																0													151	141	144					18																	61621714		1568	3582	5150	SO:0001583	missense	284293			AC009802	CCDS42441.1	18q21.33	2008-02-04			ENSG00000221887	ENSG00000221887			23037	protein-coding gene	gene with protein product		612086		C18orf53		17409267	Standard	NM_001123366		Approved	ACC-6	uc010dqj.3	A8MTL9	OTTHUMG00000060593	ENST00000408945.3:c.145A>G	chr18.hg19:g.61621714A>G	ENSP00000386207:p.Ile49Val			Missense_Mutation	SNP	ENST00000408945.3	hg19	CCDS42441.1	.	.	.	.	.	.	.	.	.	.	A	0.059	-1.229197	0.01518	.	.	ENSG00000221887	ENST00000408945	D	0.84442	-1.85	3.19	-5.08	0.02929	Serpin domain (2);	.	.	.	.	T	0.67277	0.2876	N	0.10809	0.05	0.27000	N	0.964924	B	0.15930	0.015	B	0.28139	0.086	T	0.57376	-0.7822	9	0.08599	T	0.76	.	10.4449	0.44488	0.6618:0.0:0.3382:0.0	.	49	A8MTL9	HMSD_HUMAN	V	49	ENSP00000386207:I49V	ENSP00000386207:I49V	I	+	1	0	HMSD	59772694	0.078000	0.21339	0.000000	0.03702	0.000000	0.00434	0.203000	0.17315	-1.378000	0.02120	-1.411000	0.01122	ATT		0.348	HMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134010.2	XM_209104		G	61621714	A	G	61621714	3	3	116	1	0	0	0	0	1	0	0	0	7248	101	4	3	151	3	HMSD	18	61621714	Missense_Mutation	SNP	A	TCGA-AL-3468-01A-01D-1252-08	31753824	61621714	16455534	68	7154											
COL5A3	50509	hgsc.bcm.edu	37	19	10096525	10096525	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr19:10096525C>T	ENST00000264828.3	-	31	2484	c.2399G>A	c.(2398-2400)gGa>gAa	p.G800E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	800	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TACCTTAGGTCCAGGGCGTCC	0.582																																																0													121	138	132					19																	10096525		2203	4300	6503	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2399G>A	chr19.hg19:g.10096525C>T	ENSP00000264828:p.Gly800Glu		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	hg19	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250158	0.59212	.	.	ENSG00000080573	ENST00000264828	D	0.96992	-4.2	4.6	4.6	0.57074	.	0.075366	0.51477	U	0.000084	D	0.98520	0.9506	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99620	1.0983	10	0.87932	D	0	.	15.2861	0.73828	0.0:1.0:0.0:0.0	.	800	P25940	CO5A3_HUMAN	E	800	ENSP00000264828:G800E	ENSP00000264828:G800E	G	-	2	0	COL5A3	9957525	1.000000	0.71417	0.999000	0.59377	0.220000	0.24768	6.386000	0.73186	2.267000	0.75376	0.462000	0.41574	GGA		0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10096525	C	T	10096525	3	4	116	1	0	0	0	0	1	0	0	0	3700	855	30	2	2986	2	COL5A3	19	10096525	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08		10096525	49032458	69	7155											
SMARCA4	6597	hgsc.bcm.edu	37	19	11141551	11141551	+	Missense_Mutation	SNP	C	C	G	rs573885719		TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr19:11141551C>G	ENST00000429416.3	+	26	3809	c.3528C>G	c.(3526-3528)agC>agG	p.S1176R	SMARCA4_ENST00000358026.2_Missense_Mutation_p.S1176R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1176R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1176R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1176R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1176R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1176R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1176R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1176R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1176	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTTTTGACAGCGACTGGAATC	0.622			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											23	23	23					19																	11141551		2200	4298	6498	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3528C>G	chr19.hg19:g.11141551C>G	ENSP00000395654:p.Ser1176Arg		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376857	0.61735	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	4.59	-2.64	0.06114	Helicase, C-terminal (3);	0.099658	0.64402	D	0.000003	D	0.97198	0.9084	M	0.78285	2.405	0.51482	D	0.999927	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95549	0.8619	10	0.87932	D	0	-24.9368	11.693	0.51527	0.0:0.1538:0.0:0.8462	.	1176;1176;1176;1176;1176;396;1176;1176	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	R	1176;1176;1240;1176;1176;1176;1176;1176	ENSP00000395654:S1176R;ENSP00000350720:S1176R;ENSP00000343896:S1176R;ENSP00000445036:S1176R;ENSP00000392837:S1176R;ENSP00000397783:S1176R;ENSP00000414727:S1176R	ENSP00000343896:S1176R	S	+	3	2	SMARCA4	11002551	0.002000	0.14202	0.983000	0.44433	0.991000	0.79684	-1.403000	0.02497	-0.701000	0.05063	0.563000	0.77884	AGC		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		G	11141551	C	G	11141551	3	3	116	1	0	0	0	0	1	0	0	0	14776	767	27	4	3622	4	SMARCA4	19	11141551	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08	1045026	11141551	47987432	70	7156											
PLEKHG2	64857	hgsc.bcm.edu	37	19	39915323	39915323	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr19:39915323C>T	ENST00000409794.3	+	19	4400	c.3550C>T	c.(3550-3552)Cca>Tca	p.P1184S	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P1125S|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.P1155S	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1184	Pro-rich.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACTTCCGGAGCCAAGCCTTAC	0.562																																																0													137	138	138					19																	39915323		2203	4300	6503	SO:0001583	missense	64857			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3550C>T	chr19.hg19:g.39915323C>T	ENSP00000386733:p.Pro1184Ser		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	hg19	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610668	0.28712	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	T;T;T	0.69040	-0.24;-0.27;-0.37	4.07	1.85	0.25348	.	1.332870	0.05347	N	0.531168	T	0.52108	0.1714	L	0.39898	1.24	0.09310	N	1	B;B;B	0.33694	0.403;0.281;0.421	B;B;B	0.25291	0.059;0.027;0.026	T	0.42565	-0.9444	9	.	.	.	.	4.6767	0.12715	0.0:0.6467:0.2297:0.1236	.	1155;1184;1125	Q9H7P9-3;Q9H7P9;E7ESZ3	.;PKHG2_HUMAN;.	S	1184;1155;1125	ENSP00000386733:P1184S;ENSP00000392906:P1155S;ENSP00000408857:P1125S	.	P	+	1	0	PLEKHG2	44607163	0.006000	0.16342	0.064000	0.19789	0.058000	0.15608	0.781000	0.26774	0.976000	0.38417	0.511000	0.50034	CCA		0.562	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		T	39915323	C	T	39915323	3	4	116	1	0	0	0	0	1	0	0	0	12071	739	26	2	3620	2	PLEKHG2	19	39915323	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08	28773772	39915323	19213660	71	7157											
MEGF8	1954	hgsc.bcm.edu	37	19	42872696	42872696	+	Silent	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr19:42872696T>C	ENST00000251268.6	+	36	6363	c.6363T>C	c.(6361-6363)tgT>tgC	p.C2121C	MEGF8_ENST00000378073.4_5'Flank|MEGF8_ENST00000334370.4_Silent_p.C2054C	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2121	PSI 7.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCTGGGCTGTGCTCAGGCAA	0.697																																																0													10	10	10					19																	42872696		2193	4277	6470	SO:0001819	synonymous_variant	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6363T>C	chr19.hg19:g.42872696T>C			A8KAY0|O75097	Silent	SNP	ENST00000251268.6	hg19																																																																																					0.697	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		C	42872696	T	C	42872696	2	2	116	1	0	0	0	0	0	0	0	1	9465	1702	59	3		3	MEGF8	19	42872696	Silent	SNP	T	TCGA-AL-3468-01A-01D-1252-08	2957373	42872696	16256287	72	7158											
PPP1R12C	54776	hgsc.bcm.edu	37	19	55603617	55603617	+	Silent	SNP	G	G	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr19:55603617G>C	ENST00000263433.3	-	19	2148	c.2133C>G	c.(2131-2133)ctC>ctG	p.L711L	PPP1R12C_ENST00000376393.2_Silent_p.L648L|PPP1R12C_ENST00000435544.2_Silent_p.L636L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCTCCACCTTGAGCTGCGCCA	0.692																																																0													9	9	9					19																	55603617		2170	4262	6432	SO:0001819	synonymous_variant	54776			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.2133C>G	chr19.hg19:g.55603617G>C				Silent	SNP	ENST00000263433.3	hg19	CCDS12916.1																																																																																				0.692	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		C	55603617	G	C	55603617	2	2	116	1	0	0	0	0	0	0	0	1	12361	1277	45	4		4	PPP1R12C	19	55603617	Silent	SNP	G	TCGA-AL-3468-01A-01D-1252-08	12730921	55603617	3525366	73	7159											
ZNF17	7565	hgsc.bcm.edu	37	19	57931956	57931959	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	TTCT	TTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr19:57931956_57931959delTTCT	ENST00000601808.1	+	3	1309_1312	c.1096_1099delTTCT	c.(1096-1101)ttctttfs	p.FF366fs	ZNF17_ENST00000307658.7_Frame_Shift_Del_p.FF368fs|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ATGTGGGAAATTCTTTATGGACAG	0.387																																					Melanoma(149;1637 1853 29914 42869 44988)											0																																										SO:0001589	frameshift_variant	7565			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1096_1099delTTCT	chr19.hg19:g.57931956_57931959delTTCT	ENSP00000471905:p.Phe366fs		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Frame_Shift_Del	DEL	ENST00000601808.1	hg19	CCDS42636.1																																																																																				0.387	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		-	57931959	TTCT	-	57931956	7	5	116	1	0	1	0	1	0	0	0	0	17748	1493	52	0	1106	0	ZNF17	19	57931956	Frame_Shift_Del	DEL	TTCT	TCGA-AL-3468-01A-01D-1252-08	2328339	57931956	1197027	74	7160											
FASTKD5	60493	hgsc.bcm.edu	37	20	3128940	3128940	+	Silent	SNP	A	A	G			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr20:3128940A>G	ENST00000380266.3	-	2	1098	c.777T>C	c.(775-777)ccT>ccC	p.P259P	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	259					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TTAAAAACCTAGGTACTTTGC	0.393																																																0													44	46	45					20																	3128940		2200	4300	6500	SO:0001819	synonymous_variant	60493			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.777T>C	chr20.hg19:g.3128940A>G			Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	hg19	CCDS13048.1																																																																																				0.393	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		G	3128940	A	G	3128940	2	3	116	1	0	0	0	0	0	0	0	1	5690	407	15	3		3	FASTKD5	20	3128940	Silent	SNP	A	TCGA-AL-3468-01A-01D-1252-08		3128940	59896580	75	7161											
ZHX3	23051	hgsc.bcm.edu	37	20	39831715	39831715	+	Silent	SNP	G	G	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr20:39831715G>T	ENST00000309060.3	-	4	2257	c.1842C>A	c.(1840-1842)acC>acA	p.T614T	ZHX3_ENST00000540170.1_Silent_p.T614T|ZHX3_ENST00000544979.2_Silent_p.T614T|ZHX3_ENST00000559234.1_Silent_p.T614T|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Silent_p.T614T|ZHX3_ENST00000560361.1_Silent_p.T614T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	614					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CCTTGTATTTGGTTGGTGTGA	0.537																																																0													161	151	154					20																	39831715		2203	4300	6503	SO:0001819	synonymous_variant	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1842C>A	chr20.hg19:g.39831715G>T			E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	hg19	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	4.135	0.023393	0.08006	.	.	ENSG00000174306	ENST00000421422	.	.	.	6.06	3.94	0.45596	.	.	.	.	.	T	0.60715	0.2290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58719	-0.7587	4	.	.	.	-16.3993	10.5172	0.44896	0.0731:0.0:0.7373:0.1895	.	.	.	.	K	323	.	.	Q	-	1	0	ZHX3	39265129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.636000	0.24644	1.567000	0.49668	0.650000	0.86243	CAA		0.537	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		T	39831715	G	T	39831715	2	4	116	1	0	0	0	0	0	0	0	1	17682	1335	47	4		4	ZHX3	20	39831715	Silent	SNP	G	TCGA-AL-3468-01A-01D-1252-08	36702775	39831715	23193805	76	7162											
DSCAM	1826	hgsc.bcm.edu	37	21	41710196	41710196	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr21:41710196T>C	ENST00000400454.1	-	8	2092	c.1615A>G	c.(1615-1617)Aag>Gag	p.K539E		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	539	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTAGAGTTCTTGTACCATTTA	0.438																																					Melanoma(134;970 1778 1785 21664 32388)											0													179	171	173					21																	41710196		1946	4147	6093	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1615A>G	chr21.hg19:g.41710196T>C	ENSP00000383303:p.Lys539Glu		O60468	Missense_Mutation	SNP	ENST00000400454.1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204393	0.79127	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.81330	-1.48;-1.48	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	H	0.97291	3.975	0.43489	D	0.995729	D	0.64830	0.994	D	0.64506	0.926	D	0.95287	0.8391	10	0.72032	D	0.01	.	16.0742	0.80958	0.0:0.0:0.0:1.0	.	539	O60469	DSCAM_HUMAN	E	539;291	ENSP00000383303:K539E;ENSP00000385342:K291E	ENSP00000383303:K539E	K	-	1	0	DSCAM	40632066	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.028000	0.70889	2.198000	0.70561	0.533000	0.62120	AAG		0.438	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		C	41710196	T	C	41710196	3	2	116	1	0	0	0	0	1	0	0	0	4770	1821	63	3	4527	3	DSCAM	21	41710196	Missense_Mutation	SNP	T	TCGA-AL-3468-01A-01D-1252-08		41710196	6419699	77	7163											
IGLL5	100423062	hgsc.bcm.edu	37	22	23237695	23237695	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr22:23237695C>T	ENST00000526893.1	+	3	740	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	IGLC1_ENST00000390321.2_RNA|IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000532223.2_Missense_Mutation_p.P157S|IGLL5_ENST00000531372.1_3'UTR	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	156	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						AGATGGCAGCCCCGTCAAGGC	0.597																																																0													76	80	79					22																	23237695		2202	4295	6497	SO:0001583	missense	100423062			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.466C>T	chr22.hg19:g.23237695C>T	ENSP00000431254:p.Pro156Ser			Missense_Mutation	SNP	ENST00000526893.1	hg19	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	C	3.861	-0.029965	0.07543	.	.	ENSG00000254709	ENST00000532223;ENST00000526893	T;T	0.02837	4.14;4.14	3.54	-7.09	0.01553	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02688	0.0081	L	0.42632	1.34	0.09310	N	0.999998	B	0.10296	0.003	B	0.19946	0.027	T	0.37291	-0.9712	9	0.72032	D	0.01	.	5.0659	0.14582	0.1683:0.4504:0.2909:0.0904	.	156	B9A064	IGLL5_HUMAN	S	157;156	ENSP00000436353:P157S;ENSP00000431254:P156S	ENSP00000431254:P156S	P	+	1	0	IGLL5	21567695	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.956000	0.00326	-4.369000	0.00053	-1.188000	0.01700	CCC		0.597	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		T	23237695	C	T	23237695	3	4	116	1	0	0	0	0	1	0	0	0	7596	623	22	2	476	2	IGLL5	22	23237695	Missense_Mutation	SNP	C	TCGA-AL-3468-01A-01D-1252-08		23237695	28066871	78	7164											
EIF4ENIF1	56478	hgsc.bcm.edu	37	22	31837941	31837941	+	Silent	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr22:31837941T>C	ENST00000397525.1	-	17	2593	c.2370A>G	c.(2368-2370)agA>agG	p.R790R	EIF4ENIF1_ENST00000344710.5_Silent_p.R616R|EIF4ENIF1_ENST00000330125.5_Silent_p.R790R|EIF4ENIF1_ENST00000397523.1_Silent_p.R766R|EIF4ENIF1_ENST00000382180.2_Silent_p.R445R|EIF4ENIF1_ENST00000441289.1_5'Flank	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	790						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGGTGTTTTTCTCCCAGTTG	0.527																																																0													321	298	306					22																	31837941		2203	4300	6503	SO:0001819	synonymous_variant	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2370A>G	chr22.hg19:g.31837941T>C			B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	hg19	CCDS13898.1																																																																																				0.527	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		C	31837941	T	C	31837941	2	2	116	1	0	0	0	0	0	0	0	1	5037	1780	62	3		3	EIF4ENIF1	22	31837941	Silent	SNP	T	TCGA-AL-3468-01A-01D-1252-08	8600246	31837941	19466625	79	7165											
POLDIP3	84271	hgsc.bcm.edu	37	22	42998037	42998037	+	Frame_Shift_Del	DEL	G	G	-	rs569033722		TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr22:42998037delG	ENST00000252115.5	-	3	580	c.476delC	c.(475-477)ccafs	p.P159fs	POLDIP3_ENST00000451060.2_Frame_Shift_Del_p.P3fs|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	159					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGGATGAAGTGGTGCCATGGC	0.498																																					Ovarian(52;967 1128 5875 19997 42537)											0													245	211	222					22																	42998037		2203	4300	6503	SO:0001589	frameshift_variant	84271				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"RNA binding motif (RRM) containing"	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.476delC	chr22.hg19:g.42998037delG	ENSP00000252115:p.Pro159fs		A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Frame_Shift_Del	DEL	ENST00000252115.5	hg19	CCDS14038.1																																																																																				0.498	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		-	42998037	G	-	42998037	7	5	116	1	0	1	0	1	0	0	0	0	12197	1348	47	0	817	0	POLDIP3	22	42998037	Frame_Shift_Del	DEL	G	TCGA-AL-3468-01A-01D-1252-08	11160096	42998037	8306529	80	7166											
CELSR1	9620	hgsc.bcm.edu	37	22	46931045	46931045	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chr22:46931045T>C	ENST00000262738.3	-	1	2022	c.2023A>G	c.(2023-2025)Atc>Gtc	p.I675V	CELSR1_ENST00000395964.1_Missense_Mutation_p.I675V|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	675	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCACCGTGATGGACACGCTG	0.657																																																0													33	23	26					22																	46931045		2198	4299	6497	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2023A>G	chr22.hg19:g.46931045T>C	ENSP00000262738:p.Ile675Val		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	hg19	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	T	0.117	-1.131052	0.01756	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.48522	0.81;1.31	4.51	2.38	0.29361	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	U	0.000002	T	0.25975	0.0633	N	0.20845	0.615	0.32913	D	0.514725	B	0.31040	0.305	B	0.33750	0.169	T	0.35400	-0.9790	10	0.05436	T	0.98	.	7.9257	0.29872	0.0:0.1734:0.0:0.8266	.	675	Q9NYQ6	CELR1_HUMAN	V	675	ENSP00000262738:I675V;ENSP00000379293:I675V	ENSP00000262738:I675V	I	-	1	0	CELSR1	45309709	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	1.649000	0.37281	0.608000	0.30000	0.254000	0.18369	ATC		0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		C	46931045	T	C	46931045	3	2	116	1	0	0	0	0	1	0	0	0	3223	1464	51	3	7161	3	CELSR1	22	46931045	Missense_Mutation	SNP	T	TCGA-AL-3468-01A-01D-1252-08	3933008	46931045	4373521	81	7167											
MBTPS2	51360	hgsc.bcm.edu	37	X	21857904	21857904	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chrX:21857904T>C	ENST00000379484.5	+	1	151	c.52T>C	c.(52-54)Tac>Cac	p.Y18H	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Missense_Mutation_p.Y18H	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	18					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GACTGTCGTCTACCTGACCGA	0.672																																																0													116	50	72					X																	21857904		2196	4291	6487	SO:0001583	missense	51360			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.52T>C	chrX.hg19:g.21857904T>C	ENSP00000368798:p.Tyr18His		Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	hg19	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095893	0.76870	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.94280	-3.39;-2.25	5.29	5.29	0.74685	.	0.121945	0.56097	D	0.000021	D	0.95582	0.8564	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.946;0.946	D	0.95070	0.8203	10	0.42905	T	0.14	-7.7197	13.24	0.59992	0.0:0.0:0.0:1.0	.	18;18;18	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	H	18	ENSP00000368798:Y18H;ENSP00000368796:Y18H	ENSP00000368796:Y18H	Y	+	1	0	MBTPS2	21767825	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.780000	0.68956	1.768000	0.52137	0.486000	0.48141	TAC		0.672	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			C	21857904	T	C	21857904	3	2	116	1	0	0	0	0	1	0	0	0	9364	1522	53	3	54	3	MBTPS2	23	21857904	Missense_Mutation	SNP	T	TCGA-AL-3468-01A-01D-1252-08		21857904	133412656	82	7168											
SPIN3	169981	hgsc.bcm.edu	37	X	57021007	57021007	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-3468-01A-01D-1252-08	TCGA-AL-3468-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3ace8906-6fda-48fe-8e46-4140e9ed7fce	e04284b9-b5a9-481b-b1bb-0377a566a154	g.chrX:57021007G>C	ENST00000374919.3	-	2	696	c.374C>G	c.(373-375)gCa>gGa	p.A125G		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	125					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CATTATTTCTGCCAAGTGTGT	0.418																																																0													144	141	142					X																	57021007		2073	4205	6278	SO:0001583	missense	169981			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.374C>G	chrX.hg19:g.57021007G>C	ENSP00000364054:p.Ala125Gly		B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	hg19	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	G	6.700	0.497740	0.12762	.	.	ENSG00000204271	ENST00000374919	T	0.52057	0.68	2.3	1.43	0.22495	.	0.090478	0.42548	U	0.000686	T	0.46268	0.1384	M	0.81497	2.545	0.31005	N	0.719843	B	0.18610	0.029	B	0.21708	0.036	T	0.52419	-0.8578	10	0.87932	D	0	-0.3707	6.6117	0.22755	0.1624:0.0:0.8376:0.0	.	125	Q5JUX0	SPIN3_HUMAN	G	125	ENSP00000364054:A125G	ENSP00000364054:A125G	A	-	2	0	SPIN3	57037732	1.000000	0.71417	0.072000	0.20136	0.179000	0.23085	3.759000	0.55227	0.418000	0.25898	0.600000	0.82982	GCA		0.418	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		C	57021007	G	C	57021007	3	2	116	1	0	0	0	0	1	0	0	0	15060	1319	46	4	406	4	SPIN3	23	57021007	Missense_Mutation	SNP	G	TCGA-AL-3468-01A-01D-1252-08	35163103	57021007	98249553	83	7169											
GRIK3	2899	hgsc.bcm.edu	37	1	37307384	37307384	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr1:37307384C>T	ENST00000373091.3	-	10	1499	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	GRIK3_ENST00000373093.4_Missense_Mutation_p.D495N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	495					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCCTTGTCATCCTGTGCCCCG	0.597																																																0													176	151	159					1																	37307384		2203	4300	6503	SO:0001583	missense	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1483G>A	chr1.hg19:g.37307384C>T	ENSP00000362183:p.Asp495Asn		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	hg19	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	5.820	0.335627	0.11013	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.76060	-0.99;-0.99	4.86	4.86	0.63082	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	N	0.20881	0.62	0.54753	D	0.999986	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.57312	-0.7833	10	0.09338	T	0.73	.	18.3613	0.90375	0.0:1.0:0.0:0.0	.	495;495	A9Z1Z8;Q13003	.;GRIK3_HUMAN	N	495	ENSP00000362183:D495N;ENSP00000362185:D495N	ENSP00000362183:D495N	D	-	1	0	GRIK3	37079971	1.000000	0.71417	0.993000	0.49108	0.530000	0.34684	4.928000	0.63447	2.398000	0.81561	0.591000	0.81541	GAT		0.597	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		T	37307384	C	T	37307384	3	4	117	1	0	0	0	0	1	0	0	0	6777	855	30	2	1304	2	GRIK3	1	37307384	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08		37307384	211943237	1	7170											
CRTC2	200186	hgsc.bcm.edu	37	1	153924730	153924730	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr1:153924730G>A	ENST00000368633.1	-	10	888	c.761C>T	c.(760-762)cCa>cTa	p.P254L	CRTC2_ENST00000476883.1_5'Flank|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	254					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCAGGAGATGGAAAGATGCT	0.552																																																0													57	62	60					1																	153924730		2203	4300	6503	SO:0001583	missense	200186			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.761C>T	chr1.hg19:g.153924730G>A	ENSP00000357622:p.Pro254Leu		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	hg19	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966111	0.74131	.	.	ENSG00000160741	ENST00000368633	T	0.71817	-0.6	4.67	3.76	0.43208	Transducer of regulated CREB activity, middle domain (1);	0.213044	0.40554	N	0.001070	T	0.76385	0.3980	M	0.80332	2.49	0.51767	D	0.999939	D	0.58970	0.984	D	0.62955	0.909	T	0.80086	-0.1529	10	0.87932	D	0	-3.0813	10.3415	0.43882	0.0961:0.0:0.9039:0.0	.	254	Q53ET0	CRTC2_HUMAN	L	254	ENSP00000357622:P254L	ENSP00000357622:P254L	P	-	2	0	CRTC2	152191354	1.000000	0.71417	0.961000	0.40146	0.979000	0.70002	6.923000	0.75817	1.195000	0.43115	0.455000	0.32223	CCA		0.552	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		A	153924730	G	A	153924730	3	1	117	1	0	0	0	0	1	0	0	0	3902	1348	47	2	1340	2	CRTC2	1	153924730	Missense_Mutation	SNP	G	TCGA-AL-3472-01A-01D-1252-08	116617346	153924730	95325891	2	7171											
HAPLN2	60484	hgsc.bcm.edu	37	1	156593855	156593855	+	Silent	SNP	C	C	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr1:156593855C>T	ENST00000255039.1	+	4	749	c.342C>T	c.(340-342)gtC>gtT	p.V114V		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	114	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCCCTGGTCATCGCGGGCG	0.692																																																0													30	29	30					1																	156593855		2191	4256	6447	SO:0001819	synonymous_variant	60484			AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"Immunoglobulin superfamily / V-set domain containing"	17410	protein-coding gene	gene with protein product	"brain link protein 1"					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.342C>T	chr1.hg19:g.156593855C>T			Q5T3J0	Silent	SNP	ENST00000255039.1	hg19	CCDS1148.1																																																																																				0.692	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		T	156593855	C	T	156593855	2	4	117	1	0	0	0	0	0	0	0	1	6957	813	29	2		2	HAPLN2	1	156593855	Silent	SNP	C	TCGA-AL-3472-01A-01D-1252-08	2669125	156593855	92656766	3	7172											
USH2A	7399	hgsc.bcm.edu	37	1	216073458	216073458	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr1:216073458C>T	ENST00000307340.3	-	40	7939	c.7553G>A	c.(7552-7554)aGt>aAt	p.S2518N	USH2A_ENST00000366943.2_Missense_Mutation_p.S2518N|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2518	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTATGTGCACTGCCAAATCC	0.423										HNSCC(13;0.011)																																						0													146	120	129					1																	216073458		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7553G>A	chr1.hg19:g.216073458C>T	ENSP00000305941:p.Ser2518Asn		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781126	0.49891	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	6.16	4.3	0.51218	Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.558407	0.16087	N	0.230233	T	0.47783	0.1464	L	0.46157	1.445	0.09310	N	1	P	0.43231	0.801	P	0.46419	0.516	T	0.33727	-0.9857	10	0.32370	T	0.25	.	4.9527	0.14023	0.0:0.5906:0.1598:0.2496	.	2518	O75445	USH2A_HUMAN	N	2518	ENSP00000305941:S2518N;ENSP00000355910:S2518N	ENSP00000305941:S2518N	S	-	2	0	USH2A	214140081	0.558000	0.26554	0.182000	0.23118	0.991000	0.79684	1.002000	0.29796	0.923000	0.37045	0.650000	0.86243	AGT		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216073458	C	T	216073458	3	4	117	1	0	0	0	0	1	0	0	0	17041	565	20	2	8187	2	USH2A	1	216073458	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08	59479603	216073458	33177163	4	7173											
KIDINS220	57498	hgsc.bcm.edu	37	2	8871568	8871568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:8871568delT	ENST00000256707.3	-	30	4779	c.4598delA	c.(4597-4599)aacfs	p.N1533fs	KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.N1434fs|KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.N1514fs|KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.N1514fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1533					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTGGAGTGTTATCTGATTC	0.478																																																0													82	83	82					2																	8871568		1930	4146	6076	SO:0001589	frameshift_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4598delA	chr2.hg19:g.8871568delT	ENSP00000256707:p.Asn1533fs		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Frame_Shift_Del	DEL	ENST00000256707.3	hg19	CCDS42650.1																																																																																				0.478	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		-	8871568	T	-	8871568	7	5	117	1	0	1	0	1	0	0	0	0	8273	1725	60	0	721	0	KIDINS220	2	8871568	Frame_Shift_Del	DEL	T	TCGA-AL-3472-01A-01D-1252-08		8871568	234327805	5	7174											
TSGA10	80705	hgsc.bcm.edu	37	2	99689479	99689479	+	Splice_Site	SNP	A	A	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:99689479A>C	ENST00000393483.3	-	13	1783		c.e13+1		TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000410001.1_Splice_Site|TSGA10_ENST00000539964.1_Splice_Site|TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000478090.1_Splice_Site	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CGACTGATTTACCTTGATGCC	0.353																																																0													158	136	144					2																	99689479		2203	4300	6503	SO:0001630	splice_region_variant	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.938+1T>G	chr2.hg19:g.99689479A>C			B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Splice_Site	SNP	ENST00000393483.3	hg19	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398383	0.62177	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9136	0.47122	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSGA10	99055911	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.076000	0.64413	2.092000	0.63282	0.477000	0.44152	.		0.353	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	Intron	C	99689479	A	C	99689479	5	2	117	1	0	0	0	0	0	0	1	0	16622	405	14	5	1192	5	TSGA10	2	99689479	Splice_Site	SNP	A	TCGA-AL-3472-01A-01D-1252-08	90817911	99689479	143509894	6	7175											
SLC25A12	8604	hgsc.bcm.edu	37	2	172647961	172647961	+	Splice_Site	SNP	C	C	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:172647961C>G	ENST00000422440.2	-	15	1622	c.1585G>C	c.(1585-1587)Ggt>Cgt	p.G529R	SLC25A12_ENST00000392592.4_Splice_Site_p.G422R	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	529					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TTGTAGTTACCTGCCATGGCT	0.353																																																0													68	70	69					2																	172647961		2203	4300	6503	SO:0001630	splice_region_variant	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1585+1G>C	chr2.hg19:g.172647961C>G			B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	hg19	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952520	0.92660	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	D;D	0.85339	-1.97;-1.97	5.92	5.92	0.95590	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.95808	0.8839	9	.	.	.	-13.0108	20.3206	0.98668	0.0:1.0:0.0:0.0	.	422;529	B3KR64;O75746	.;CMC1_HUMAN	R	529;422	ENSP00000388658:G529R;ENSP00000376371:G422R	.	G	-	1	0	SLC25A12	172356207	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.784000	0.85713	2.809000	0.96659	0.655000	0.94253	GGT		0.353	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705	Missense_Mutation	G	172647961	C	G	172647961	5	3	117	1	0	0	0	0	0	0	1	0	14480	695	24	4	467	4	SLC25A12	2	172647961	Splice_Site	SNP	C	TCGA-AL-3472-01A-01D-1252-08	72958482	172647961	70551412	7	7176											
SF3B1	23451	hgsc.bcm.edu	37	2	198260814	198260814	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:198260814C>T	ENST00000335508.6	-	23	3596	c.3505G>A	c.(3505-3507)Gta>Ata	p.V1169I		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1169					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AACGGTGTTACGGCATAAATG	0.323			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													111	108	109					2																	198260814		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3505G>A	chr2.hg19:g.198260814C>T	ENSP00000335321:p.Val1169Ile		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	hg19	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524051	0.44866	.	.	ENSG00000115524	ENST00000335508	T	0.63744	-0.06	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	L	0.50847	1.595	0.80722	D	1	D	0.56035	0.974	B	0.42361	0.385	T	0.57289	-0.7837	10	0.24483	T	0.36	.	19.0887	0.93217	0.0:1.0:0.0:0.0	.	1169	O75533	SF3B1_HUMAN	I	1169	ENSP00000335321:V1169I	ENSP00000335321:V1169I	V	-	1	0	SF3B1	197969059	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.534000	0.82004	2.826000	0.97356	0.655000	0.94253	GTA		0.323	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			T	198260814	C	T	198260814	3	4	117	1	0	0	0	0	1	0	0	0	14155	536	19	1	421	1	SF3B1	2	198260814	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08	25612853	198260814	44938559	8	7177											
PER2	8864	hgsc.bcm.edu	37	2	239176835	239176850	+	Splice_Site	DEL	GGACACTGCGGAGAAG	GGACACTGCGGAGAAG	-	rs373179670|rs377264399|rs202102579|rs374332427		TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	GGACACTGCGGAGAAG	GGACACTGCGGAGAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:239176835_239176850delGGACACTGCGGAGAAG	ENST00000254657.3	-	8	1104_1108	c.825_829delCTTCTCCGCAGTGTCC	c.(823-831)agcttctcc>agcc	p.SFS275fs	PER2_ENST00000355768.2_Splice_Site_p.SFS275fs|PER2_ENST00000440245.1_Splice_Site_p.SFS275fs|PER2_ENST00000254658.3_Splice_Site_p.SFS275fs	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	275					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGCTTTTCCGGACACTGCGGAGAAGAGCCACGCTC	0.574																																																0																																										SO:0001630	splice_region_variant	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.825-1CTTCTCCGCAGTGTCC>-	chr2.hg19:g.239176835_239176850delGGACACTGCGGAGAAG			A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	In_Frame_Del	DEL	ENST00000254657.3	hg19	CCDS2528.1																																																																																				0.574	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	Frame_Shift_Del	-	239176850	GGACACTGCGGAGAAG	-	239176835	8	5	117	1	0	1	0	1	0	0	1	0	11732	1115	39	0	3002	0	PER2	2	239176835	Splice_Site	DEL	GGACACTGCGGAGAAG	TCGA-AL-3472-01A-01D-1252-08	40916021	239176835	4022538	9	7178											
ITIH3	3699	hgsc.bcm.edu	37	3	52830615	52830615	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr3:52830615C>T	ENST00000449956.2	+	3	239	c.233C>T	c.(232-234)tCc>tTc	p.S78F	ITIH3_ENST00000416872.2_Missense_Mutation_p.S78F	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	78	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AAGGAGGTTTCCTTTGATGTG	0.562																																																0													76	82	80					3																	52830615		2122	4276	6398	SO:0001583	missense	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.233C>T	chr3.hg19:g.52830615C>T	ENSP00000415769:p.Ser78Phe		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	hg19	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	7.116	0.576936	0.13686	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.23552	1.9;1.9	4.43	2.45	0.29901	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.175288	0.50627	N	0.000112	T	0.10423	0.0255	N	0.10972	0.075	0.35532	D	0.802333	B;B	0.06786	0.001;0.001	B;B	0.13407	0.002;0.009	T	0.15694	-1.0428	10	0.17369	T	0.5	-12.815	4.7553	0.13080	0.0:0.6593:0.0:0.3407	.	78;78	E7ET33;Q06033	.;ITIH3_HUMAN	F	78;78;73;78;78	ENSP00000413922:S78F;ENSP00000415769:S78F	ENSP00000273291:S73F	S	+	2	0	ITIH3	52805655	0.000000	0.05858	0.973000	0.42090	0.946000	0.59487	-0.476000	0.06591	1.088000	0.41272	0.591000	0.81541	TCC		0.562	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		T	52830615	C	T	52830615	3	4	117	1	0	0	0	0	1	0	0	0	7907	855	30	2	243	2	ITIH3	3	52830615	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08		52830615	145191815	10	7179											
ZNF654	55279	hgsc.bcm.edu	37	3	88190087	88190087	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr3:88190087A>T	ENST00000309495.5	+	1	1834	c.1627A>T	c.(1627-1629)Aga>Tga	p.R543*	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ATCAGTGAAAAGATTAAGATG	0.383																																																0													77	71	73					3																	88190087		1854	4098	5952	SO:0001587	stop_gained	55279			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1627A>T	chr3.hg19:g.88190087A>T	ENSP00000312141:p.Arg543*		Q9H791|Q9NV14	Nonsense_Mutation	SNP	ENST00000309495.5	hg19	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	a	39	7.456045	0.98296	.	.	ENSG00000175105	ENST00000309495	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7425	0.69467	1.0:0.0:0.0:0.0	.	.	.	.	X	543	.	ENSP00000312141:R543X	R	+	1	2	ZNF654	88272777	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.207000	0.72159	2.069000	0.61940	0.468000	0.43344	AGA		0.383	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		T	88190087	A	T	88190087	4	4	117	1	0	0	0	0	0	1	0	0	18072	64	3	5	1629	5	ZNF654	3	88190087	Nonsense_Mutation	SNP	A	TCGA-AL-3472-01A-01D-1252-08	35359472	88190087	109832343	11	7180											
LYAR	55646	hgsc.bcm.edu	37	4	4276342	4276342	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr4:4276342C>T	ENST00000343470.4	-	7	824	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	LYAR_ENST00000452476.1_Missense_Mutation_p.R195Q	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	195	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		tttcttctgccgttcttcctt	0.438																																																0													138	128	132					4																	4276342		2203	4300	6503	SO:0001583	missense	55646			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.584G>A	chr4.hg19:g.4276342C>T	ENSP00000345917:p.Arg195Gln		D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	hg19	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089165	0.36855	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.32753	1.44;1.44	5.19	5.19	0.71726	.	0.286976	0.36338	N	0.002645	T	0.30230	0.0758	M	0.72894	2.215	0.46222	D	0.998937	P	0.48503	0.911	B	0.31946	0.138	T	0.33523	-0.9865	10	0.44086	T	0.13	-12.7208	16.5728	0.84629	0.0:1.0:0.0:0.0	.	195	Q9NX58	LYAR_HUMAN	Q	195	ENSP00000345917:R195Q;ENSP00000397367:R195Q	ENSP00000345917:R195Q	R	-	2	0	LYAR	4327243	1.000000	0.71417	0.986000	0.45419	0.130000	0.20726	2.673000	0.46858	2.571000	0.86741	0.655000	0.94253	CGG		0.438	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		T	4276342	C	T	4276342	3	4	117	1	0	0	0	0	1	0	0	0	9105	652	23	1	571	1	LYAR	4	4276342	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08		4276342	186877934	12	7181											
NSUN7	79730	hgsc.bcm.edu	37	4	40810405	40810405	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr4:40810405G>C	ENST00000381782.2	+	12	2101	c.1606G>C	c.(1606-1608)Ggt>Cgt	p.G536R	NSUN7_ENST00000316607.5_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	536							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GATTGAGTTGGGTAAATCATC	0.428																																																0													81	67	71					4																	40810405		692	1591	2283	SO:0001583	missense	79730			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1606G>C	chr4.hg19:g.40810405G>C	ENSP00000371201:p.Gly536Arg		C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	hg19	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783124	0.49891	.	.	ENSG00000179299	ENST00000381782	T	0.14640	2.49	5.6	3.87	0.44632	.	0.804730	0.11512	N	0.556627	T	0.11623	0.0283	L	0.47716	1.5	0.09310	N	0.999999	P	0.48089	0.905	B	0.39258	0.295	T	0.16837	-1.0389	10	0.31617	T	0.26	-7.9775	6.9881	0.24739	0.1529:0.1439:0.7032:0.0	.	536	Q8NE18	NSUN7_HUMAN	R	536	ENSP00000371201:G536R	ENSP00000371201:G536R	G	+	1	0	NSUN7	40505162	0.935000	0.31712	0.983000	0.44433	0.993000	0.82548	2.018000	0.40991	1.364000	0.46038	0.591000	0.81541	GGT		0.428	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		C	40810405	G	C	40810405	3	2	117	1	0	0	0	0	1	0	0	0	10685	1232	43	4	1648	4	NSUN7	4	40810405	Missense_Mutation	SNP	G	TCGA-AL-3472-01A-01D-1252-08	36534063	40810405	150343871	13	7182											
INTU	27152	hgsc.bcm.edu	37	4	128564929	128564929	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr4:128564929A>G	ENST00000335251.6	+	2	503	c.400A>G	c.(400-402)Aat>Gat	p.N134D	INTU_ENST00000296461.5_Missense_Mutation_p.N134D	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	134					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						AAAAAATAGCAATGACAATGG	0.358																																																0													69	71	71					4																	128564929		2203	4300	6503	SO:0001583	missense	27152			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.400A>G	chr4.hg19:g.128564929A>G	ENSP00000334003:p.Asn134Asp		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	hg19	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	1.750	-0.489422	0.04352	.	.	ENSG00000164066	ENST00000504491;ENST00000335251;ENST00000296461	T	0.44083	0.93	5.1	2.61	0.31194	.	0.890844	0.09986	N	0.730400	T	0.24736	0.0600	N	0.22421	0.69	0.22127	N	0.999348	B	0.06786	0.001	B	0.04013	0.001	T	0.25152	-1.0140	10	0.25751	T	0.34	-1.097	2.9593	0.05887	0.5157:0.2769:0.0738:0.1336	.	134	Q9ULD6	PDZD6_HUMAN	D	115;134;134	ENSP00000296461:N134D	ENSP00000296461:N134D	N	+	1	0	INTU	128784379	0.341000	0.24801	0.129000	0.21949	0.028000	0.11728	2.259000	0.43259	0.393000	0.25203	0.533000	0.62120	AAT		0.358	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		G	128564929	A	G	128564929	3	3	117	1	0	0	0	0	1	0	0	0	7788	130	5	3	406	3	INTU	4	128564929	Missense_Mutation	SNP	A	TCGA-AL-3472-01A-01D-1252-08	87754524	128564929	62589347	14	7183											
PSD2	84249	hgsc.bcm.edu	37	5	139193773	139193773	+	Silent	SNP	T	T	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr5:139193773T>C	ENST00000274710.3	+	4	1045	c.840T>C	c.(838-840)gaT>gaC	p.D280D		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	280	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGAAGGATGGCCTGTCAG	0.632																																																0													108	101	103					5																	139193773		2203	4300	6503	SO:0001819	synonymous_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.840T>C	chr5.hg19:g.139193773T>C			D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	hg19	CCDS4216.1																																																																																				0.632	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		C	139193773	T	C	139193773	2	2	117	1	0	0	0	0	0	0	0	1	12652	1461	51	3		3	PSD2	5	139193773	Silent	SNP	T	TCGA-AL-3472-01A-01D-1252-08		139193773	41721487	15	7184											
SLC25A2	83884	hgsc.bcm.edu	37	5	140683030	140683030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr5:140683030G>A	ENST00000239451.4	-	1	582	c.403C>T	c.(403-405)Cag>Tag	p.Q135*		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	135					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TACATGGTCTGTAGCCGGCAC	0.522																																																0													100	108	105					5																	140683030		2203	4300	6503	SO:0001587	stop_gained	83884			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.403C>T	chr5.hg19:g.140683030G>A	ENSP00000239451:p.Gln135*		Q496C1|Q6XUI0|Q8NFZ2	Nonsense_Mutation	SNP	ENST00000239451.4	hg19	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250551	0.95305	.	.	ENSG00000120329	ENST00000239451	.	.	.	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.487	13.9383	0.64039	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000239451:Q135X	Q	-	1	0	SLC25A2	140663214	1.000000	0.71417	0.982000	0.44146	0.942000	0.58702	8.721000	0.91446	2.424000	0.82194	0.650000	0.86243	CAG		0.522	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		A	140683030	G	A	140683030	4	1	117	1	0	0	0	0	0	1	0	0	14488	1386	48	2	506	2	SLC25A2	5	140683030	Nonsense_Mutation	SNP	G	TCGA-AL-3472-01A-01D-1252-08	1489257	140683030	40232230	16	7185											
SLC22A23	63027	hgsc.bcm.edu	37	6	3410472	3410472	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr6:3410472A>T	ENST00000406686.3	-	3	862	c.863T>A	c.(862-864)tTc>tAc	p.F288Y	SLC22A23_ENST00000436008.2_Missense_Mutation_p.F288Y|SLC22A23_ENST00000380302.4_Missense_Mutation_p.F7Y|SLC22A23_ENST00000490273.1_Missense_Mutation_p.F7Y|SLC22A23_ENST00000380298.2_Missense_Mutation_p.F288Y	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	288					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TCCTTCAAAGAACCTGAGTGT	0.448																																																0													112	96	101					6																	3410472		2203	4300	6503	SO:0001583	missense	63027			AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.863T>A	chr6.hg19:g.3410472A>T	ENSP00000385028:p.Phe288Tyr		A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	hg19	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.980895	0.92982	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177;ENST00000380298	T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0;0.0	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	M	0.64997	1.995	0.52501	D	0.999957	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.76110	-0.3079	10	0.87932	D	0	-30.1819	15.0144	0.71573	1.0:0.0:0.0:0.0	.	288;288	C9J4Z0;A1A5C7	.;S22AN_HUMAN	Y	288;288;7;7;116;114;288	ENSP00000410245:F288Y;ENSP00000385028:F288Y;ENSP00000369657:F7Y;ENSP00000419463:F7Y;ENSP00000418134:F116Y;ENSP00000418985:F114Y;ENSP00000369653:F288Y	ENSP00000369653:F288Y	F	-	2	0	SLC22A23	3355471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.770000	0.91746	1.960000	0.56953	0.460000	0.39030	TTC		0.448	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		T	3410472	A	T	3410472	3	4	117	1	0	0	0	0	1	0	0	0	14458	246	9	5	1229	5	SLC22A23	6	3410472	Missense_Mutation	SNP	A	TCGA-AL-3472-01A-01D-1252-08		3410472	167704595	17	7186											
TRIM15	89870	hgsc.bcm.edu	37	6	30140094	30140094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr6:30140094delA	ENST00000376694.4	+	7	1835	c.1366delA	c.(1366-1368)aaafs	p.K457fs	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	457	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TGCCGTCTGGAAAAAAGGTTC	0.637																																																0													36	45	42					6																	30140094		1506	2707	4213	SO:0001589	frameshift_variant	89870			AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16284	protein-coding gene	gene with protein product			"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.1366delA	chr6.hg19:g.30140094delA	ENSP00000365884:p.Lys457fs		A2BEC9|O95604|Q8IUX9|Q9C018	Frame_Shift_Del	DEL	ENST00000376694.4	hg19	CCDS4677.1																																																																																				0.637	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		-	30140094	A	-	30140094	7	5	117	1	0	1	0	1	0	0	0	0	16495	247	9	0	1392	0	TRIM15	6	30140094	Frame_Shift_Del	DEL	A	TCGA-AL-3472-01A-01D-1252-08	26729622	30140094	140974973	18	7187											
PKHD1	5314	hgsc.bcm.edu	37	6	51712728	51712728	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr6:51712728A>G	ENST00000371117.3	-	50	8227	c.7952T>C	c.(7951-7953)cTa>cCa	p.L2651P	PKHD1_ENST00000340994.4_Missense_Mutation_p.L2651P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2651					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCAGCAGTAGGTAATTACC	0.458																																																0													127	126	127					6																	51712728		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7952T>C	chr6.hg19:g.51712728A>G	ENSP00000360158:p.Leu2651Pro		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.784987	0.49997	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89123	-2.28;-2.47	5.47	5.47	0.80525	.	0.128004	0.36409	N	0.002604	D	0.91606	0.7348	L	0.59436	1.845	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.73708	0.98;0.965;0.981	D	0.92508	0.6014	10	0.62326	D	0.03	.	15.0183	0.71605	1.0:0.0:0.0:0.0	.	2651;2651;2651	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	P	2651	ENSP00000360158:L2651P;ENSP00000341097:L2651P	ENSP00000341097:L2651P	L	-	2	0	PKHD1	51820687	1.000000	0.71417	0.992000	0.48379	0.153000	0.21895	6.098000	0.71458	2.196000	0.70406	0.528000	0.53228	CTA		0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51712728	A	G	51712728	3	3	117	1	0	0	0	0	1	0	0	0	11973	420	15	3	4383	3	PKHD1	6	51712728	Missense_Mutation	SNP	A	TCGA-AL-3472-01A-01D-1252-08	21572634	51712728	119402339	19	7188											
AHI1	54806	hgsc.bcm.edu	37	6	135732541	135732541	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr6:135732541G>C	ENST00000367800.4	-	19	3122	c.2906C>G	c.(2905-2907)aCt>aGt	p.T969S	AHI1_ENST00000417892.2_Missense_Mutation_p.T323S|AHI1_ENST00000327035.6_Missense_Mutation_p.T969S|AHI1_ENST00000457866.2_Missense_Mutation_p.T969S	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	969					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGAACTTTCAGTGTGGACAAA	0.373																																																0													143	137	139					6																	135732541		1847	4102	5949	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2906C>G	chr6.hg19:g.135732541G>C	ENSP00000356774:p.Thr969Ser		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	hg19	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.95|12.95	2.090823|2.090823	0.36855|0.36855	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367799;ENST00000529865|ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602;ENST00000327035;ENST00000367801	.|T;T;T;T;T	.|0.37411	.|1.2;1.2;1.2;1.2;1.2	5.69|5.69	2.9|2.9	0.33743|0.33743	.|.	.|0.402955	.|0.30830	.|N	.|0.008787	T|T	0.13114|0.13114	0.0318|0.0318	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P;P;B	.|0.40431	.|0.717;0.595;0.451	.|B;B;B	.|0.41271	.|0.352;0.192;0.112	T|T	0.03662|0.03662	-1.1015|-1.1015	5|10	.|0.54805	.|T	.|0.06	-12.9903|-12.9903	9.4417|9.4417	0.38673|0.38673	0.0:0.2946:0.5522:0.1532|0.0:0.2946:0.5522:0.1532	.|.	.|969;969;969	.|Q8N157-2;Q8N157;Q4FD35	.|.;AHI1_HUMAN;.	V|S	469;36|969;969;323;969;969;969	.|ENSP00000356774:T969S;ENSP00000388650:T969S;ENSP00000416867:T323S;ENSP00000265602:T969S;ENSP00000322478:T969S	.|ENSP00000265602:T969S	L|T	-|-	1|2	2|0	AHI1|AHI1	135774234|135774234	0.951000|0.951000	0.32395|0.32395	0.977000|0.977000	0.42913|0.42913	0.960000|0.960000	0.62799|0.62799	0.749000|0.749000	0.26320|0.26320	0.311000|0.311000	0.23014|0.23014	-0.127000|-0.127000	0.14921|0.14921	CTG|ACT		0.373	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		C	135732541	G	C	135732541	3	2	117	1	0	0	0	0	1	0	0	0	413	1029	36	4	777	4	AHI1	6	135732541	Missense_Mutation	SNP	G	TCGA-AL-3472-01A-01D-1252-08	84019813	135732541	35382526	20	7189											
RADIL	55698	hgsc.bcm.edu	37	7	4876021	4876021	+	Missense_Mutation	SNP	G	G	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr7:4876021G>T	ENST00000399583.3	-	3	938	c.751C>A	c.(751-753)Ctg>Atg	p.L251M	RADIL_ENST00000538469.1_Missense_Mutation_p.L11M|RADIL_ENST00000536091.1_Missense_Mutation_p.L251M	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	251					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGAAGGAGCAGATGCGGGGAC	0.701																																																0													16	23	20					7																	4876021		2086	4206	6292	SO:0001583	missense	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.751C>A	chr7.hg19:g.4876021G>T	ENSP00000382492:p.Leu251Met		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	hg19	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993465	0.35131	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000538469	T;T;T	0.06849	3.25;3.25;3.25	4.85	3.96	0.45880	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.64402	D	0.000002	T	0.29914	0.0748	M	0.82630	2.6	0.35445	D	0.795246	D	0.89917	1.0	D	0.69307	0.963	T	0.43750	-0.9372	10	0.62326	D	0.03	-21.7944	13.6214	0.62138	0.0828:0.0:0.9172:0.0	.	251	Q96JH8	RADIL_HUMAN	M	251;225;251;11	ENSP00000382492:L251M;ENSP00000442533:L251M;ENSP00000442966:L11M	ENSP00000320946:L225M	L	-	1	2	RADIL	4842547	1.000000	0.71417	0.993000	0.49108	0.126000	0.20510	3.872000	0.56085	0.473000	0.27368	-1.598000	0.00824	CTG		0.701	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		T	4876021	G	T	4876021	3	4	117	1	0	0	0	0	1	0	0	0	13003	933	33	4	2528	4	RADIL	7	4876021	Missense_Mutation	SNP	G	TCGA-AL-3472-01A-01D-1252-08		4876021	154262642	21	7190											
MET	4233	hgsc.bcm.edu	37	7	116415115	116415115	+	Missense_Mutation	SNP	T	T	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr7:116415115T>A	ENST00000318493.6	+	15	3450	c.3263T>A	c.(3262-3264)gTg>gAg	p.V1088E	MET_ENST00000539704.1_5'Flank|MET_ENST00000397752.3_Missense_Mutation_p.V1070E			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V1088E(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGCATGTAGTGATTGGGCCC	0.433			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)											174	172	172					7																	116415115		2077	4220	6297	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3263T>A	chr7.hg19:g.116415115T>A	ENSP00000317272:p.Val1088Glu		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885631	0.91814	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000454623	T;T	0.73681	-0.77;-0.77	5.62	5.62	0.85841	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84469	0.5479	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.994;0.989	D	0.86091	0.1550	10	0.87932	D	0	-15.0307	16.1067	0.81230	0.0:0.0:0.0:1.0	.	1088;1070	P08581-2;P08581	.;MET_HUMAN	E	1070;1088;155	ENSP00000380860:V1070E;ENSP00000317272:V1088E	ENSP00000317272:V1088E	V	+	2	0	MET	116202351	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.310000	0.78947	2.255000	0.74692	0.533000	0.62120	GTG		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116415115	T	A	116415115	3	1	117	1	0	0	0	0	1	0	0	0	9487	1696	59	5	3317	5	MET	7	116415115	Missense_Mutation	SNP	T	TCGA-AL-3472-01A-01D-1252-08	111539094	116415115	42723548	22	7191											
KLHL9	55958	hgsc.bcm.edu	37	9	21334413	21334413	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr9:21334413A>T	ENST00000359039.4	-	1	966	c.446T>A	c.(445-447)gTc>gAc	p.V149D	KLHL9_ENST00000537938.1_Missense_Mutation_p.V81D			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	149					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATCCAAAGAGACTCCTGATAT	0.338																																																0													39	43	42					9																	21334413		2203	4297	6500	SO:0001583	missense	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.446T>A	chr9.hg19:g.21334413A>T	ENSP00000351933:p.Val149Asp		Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	hg19	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455753	0.43634	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.73152	-0.7;-0.72	5.21	5.21	0.72293	BTB/POZ-like (1);BTB/POZ fold (1);	0.136382	0.48286	D	0.000181	T	0.72236	0.3435	M	0.68317	2.08	0.80722	D	1	B	0.28933	0.228	B	0.36289	0.221	T	0.74423	-0.3670	10	0.87932	D	0	.	13.3494	0.60593	1.0:0.0:0.0:0.0	.	149	Q9P2J3	KLHL9_HUMAN	D	149;81	ENSP00000351933:V149D;ENSP00000437733:V81D	ENSP00000351933:V149D	V	-	2	0	KLHL9	21324413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.891000	0.92485	2.111000	0.64477	0.528000	0.53228	GTC		0.338	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		T	21334413	A	T	21334413	3	4	117	1	0	0	0	0	1	0	0	0	8398	275	10	5	1411	5	KLHL9	9	21334413	Missense_Mutation	SNP	A	TCGA-AL-3472-01A-01D-1252-08		21334413	119879018	23	7192											
PSAT1	29968	hgsc.bcm.edu	37	9	80942983	80942984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr9:80942983_80942984insA	ENST00000376588.3	+	8	954_955	c.886_887insA	c.(886-888)caafs	p.Q296fs	PSAT1_ENST00000347159.2_Intron	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	296					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						AGTGGAGCCCCAAAATAGAAGC	0.337																																					Colon(34;187 791 10662 18313 37609)											0																																										SO:0001589	frameshift_variant	29968			BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.890dupA	chr9.hg19:g.80942987_80942987dupA	ENSP00000365773:p.Gln296fs		Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Frame_Shift_Ins	INS	ENST00000376588.3	hg19	CCDS6660.1																																																																																				0.337	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		A	80942984	-	A	80942983	7	5	117	1	0	1	1	0	0	0	0	0	12649	595	21	0	916	0	PSAT1	9	80942983	Frame_Shift_Ins	INS	-	TCGA-AL-3472-01A-01D-1252-08	59608570	80942983	60270448	24	7193											
RPL12	6136	hgsc.bcm.edu	37	9	130213582	130213582	+	Silent	SNP	G	G	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr9:130213582G>A	ENST00000361436.5	-	1	102	c.15C>T	c.(13-15)ttC>ttT	p.F5F	RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Silent_p.F5F|SNORA65_ENST00000364432.1_RNA|LRSAM1_ENST00000323301.4_5'Flank|LRSAM1_ENST00000373322.1_5'Flank|LRSAM1_ENST00000373324.4_5'Flank|LRSAM1_ENST00000300417.6_5'Flank	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	5					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						CGTTGGGGTCGAACTTCGGCG	0.652																																																0													33	36	35					9																	130213582		2199	4296	6495	SO:0001819	synonymous_variant	6136				CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"L ribosomal proteins"	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.15C>T	chr9.hg19:g.130213582G>A			Q5VVV2|Q6PB27	Silent	SNP	ENST00000361436.5	hg19	CCDS6872.1																																																																																				0.652	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1			A	130213582	G	A	130213582	2	1	117	1	0	0	0	0	0	0	0	1	13564	1049	37	1		1	RPL12	9	130213582	Silent	SNP	G	TCGA-AL-3472-01A-01D-1252-08	49270599	130213582	10999849	25	7194											
AKR1E2	83592	hgsc.bcm.edu	37	10	4877871	4877871	+	Missense_Mutation	SNP	C	C	A	rs149822509	byFrequency	TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr10:4877871C>A	ENST00000298375.7	+	4	400	c.329C>A	c.(328-330)cCt>cAt	p.P110H	AKR1E2_ENST00000532248.1_Missense_Mutation_p.P110H|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000334019.4_Missense_Mutation_p.P110H|AKR1E2_ENST00000345253.5_Missense_Mutation_p.P110H	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	110						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TCGCAGCCTCCTCATCCAGAA	0.483																																					NSCLC(43;343 1097 20371 28813 45509)											0													82	68	73					10																	4877871		2203	4300	6503	SO:0001583	missense	83592			AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"Aldo-keto reductases"	23437	protein-coding gene	gene with protein product			"aldo-keto reductase family 1, member C-like 2"	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.329C>A	chr10.hg19:g.4877871C>A	ENSP00000298375:p.Pro110His		Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	hg19	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.940130	0.34283	.	.	ENSG00000165568	ENST00000462718;ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.50277	0.75;2.3;2.3;2.3;1.87	3.39	2.47	0.30058	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.38268	0.1034	N	0.11201	0.11	0.09310	N	1	B;D;D;D;D	0.55385	0.007;0.965;0.965;0.971;0.965	B;P;P;P;P	0.54372	0.014;0.634;0.634;0.75;0.634	T	0.13764	-1.0497	9	0.72032	D	0.01	.	6.973	0.24658	0.0:0.8714:0.0:0.1286	.	71;110;110;110;110	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	H	6;114;110;110;110;110	ENSP00000435436:P114H;ENSP00000298375:P110H;ENSP00000432947:P110H;ENSP00000335034:P110H;ENSP00000335603:P110H	ENSP00000298375:P110H	P	+	2	0	AKR1E2	4867871	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	0.340000	0.19892	0.964000	0.38108	0.561000	0.74099	CCT		0.483	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		A	4877871	C	A	4877871	3	1	117	1	0	0	0	0	1	0	0	0	474	681	24	4	343	4	AKR1E2	10	4877871	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08		4877871	130656876	26	7195											
OR10G8	219869	hgsc.bcm.edu	37	11	123900948	123900948	+	Missense_Mutation	SNP	T	T	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr11:123900948T>G	ENST00000431524.1	+	1	652	c.619T>G	c.(619-621)Tcg>Gcg	p.S207A		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AATAGTGGCCTCGGGCTGCTT	0.537																																																0													193	169	177					11																	123900948		2201	4299	6500	SO:0001583	missense	219869			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.619T>G	chr11.hg19:g.123900948T>G	ENSP00000389072:p.Ser207Ala		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	hg19	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	T	2.750	-0.260282	0.05791	.	.	ENSG00000234560	ENST00000431524	T	0.36157	1.27	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.953949	0.08599	N	0.921764	T	0.23330	0.0564	N	0.01482	-0.84	0.09310	N	1	B	0.30914	0.3	B	0.43194	0.411	T	0.46456	-0.9190	10	0.45353	T	0.12	.	11.0743	0.48021	0.0:0.0:0.0:1.0	.	207	Q8NGN5	O10G8_HUMAN	A	207	ENSP00000389072:S207A	ENSP00000389072:S207A	S	+	1	0	OR10G8	123406158	0.000000	0.05858	0.780000	0.31762	0.263000	0.26337	0.369000	0.20416	1.319000	0.45190	0.455000	0.32223	TCG		0.537	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		G	123900948	T	G	123900948	3	3	117	1	0	0	0	0	1	0	0	0	10905	1551	54	5	621	5	OR10G8	11	123900948	Missense_Mutation	SNP	T	TCGA-AL-3472-01A-01D-1252-08		123900948	11105568	27	7196											
ST14	6768	hgsc.bcm.edu	37	11	130066334	130066334	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr11:130066334A>G	ENST00000278742.5	+	10	1632	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	405	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTGGAGATCAACGGGGAGAAG	0.677																																																0													30	27	28					11																	130066334		2201	4296	6497	SO:0001583	missense	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1214A>G	chr11.hg19:g.130066334A>G	ENSP00000278742:p.Asn405Ser		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	hg19	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.146950	0.77888	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.18960	2.18	4.62	4.62	0.57501	CUB (5);	0.000000	0.41097	D	0.000956	T	0.32102	0.0818	L	0.41710	1.295	0.58432	D	0.999999	D;D	0.67145	0.996;0.993	D;D	0.69654	0.936;0.965	T	0.03374	-1.1043	10	0.17832	T	0.49	.	12.2663	0.54681	1.0:0.0:0.0:0.0	.	215;405	B4DYI7;Q9Y5Y6	.;ST14_HUMAN	S	405;307	ENSP00000278742:N405S	ENSP00000278742:N405S	N	+	2	0	ST14	129571544	0.997000	0.39634	0.972000	0.41901	0.891000	0.51852	3.696000	0.54757	1.730000	0.51580	0.533000	0.62120	AAC		0.677	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			G	130066334	A	G	130066334	3	3	117	1	0	0	0	0	1	0	0	0	15216	43	2	3	1252	3	ST14	11	130066334	Missense_Mutation	SNP	A	TCGA-AL-3472-01A-01D-1252-08	6165386	130066334	4940182	28	7197											
FGF6	2251	hgsc.bcm.edu	37	12	4554499	4554500	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:4554499_4554500CC>AG	ENST00000228837.2	-	1	280_281	c.237_238GG>CT	c.(235-240)ttGGtg>ttCTtg	p.79_80LV>FL		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	79					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTGATCCCCACCAAATAGCCAC	0.653																																																0																																										SO:0001583	missense	2251			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.237_238delinsAG	chr12.hg19:g.4554499_4554500delinsAG	ENSP00000228837:p.L79_V80delinsFL		Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	hg19	CCDS8527.1																																																																																				0.653	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		AG	4554500	CC	AG	4554499	3	1	117	1	0	0	0	0	1	0	0	0	5858	507	18	4	400	4	FGF6	12	4554499	Missense_Mutation	DNP	CC	TCGA-AL-3472-01A-01D-1252-08		4554499	129297396	29	7198											
LAG3	3902	hgsc.bcm.edu	37	12	6886462	6886462	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:6886462C>A	ENST00000203629.2	+	6	1423	c.1090C>A	c.(1090-1092)Ctg>Atg	p.L364M		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	364	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTGGATCCCTGGGGAAGCT	0.512																																																0													113	112	112					12																	6886462		2203	4300	6503	SO:0001583	missense	3902				CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1090C>A	chr12.hg19:g.6886462C>A	ENSP00000203629:p.Leu364Met		A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	hg19	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556120	0.45487	.	.	ENSG00000089692	ENST00000203629	T	0.11604	2.76	4.55	2.53	0.30540	.	1.747540	0.02897	N	0.134825	T	0.10937	0.0267	N	0.24115	0.695	0.09310	N	1	P	0.46277	0.875	P	0.44732	0.459	T	0.24584	-1.0156	10	0.33940	T	0.23	2.878	7.2879	0.26350	0.1917:0.6226:0.1858:0.0	.	364	P18627	LAG3_HUMAN	M	364	ENSP00000203629:L364M	ENSP00000203629:L364M	L	+	1	2	LAG3	6756723	0.025000	0.19082	0.471000	0.27229	0.889000	0.51656	-0.025000	0.12413	1.073000	0.40885	0.561000	0.74099	CTG		0.512	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			A	6886462	C	A	6886462	3	1	117	1	0	0	0	0	1	0	0	0	8602	680	24	4	1112	4	LAG3	12	6886462	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08	2331963	6886462	126965433	30	7199											
TMTC1	83857	hgsc.bcm.edu	37	12	29670368	29670368	+	Silent	SNP	A	A	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:29670368A>G	ENST00000539277.1	-	14	2219	c.2161T>C	c.(2161-2163)Ttg>Ctg	p.L721L	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Silent_p.L613L|TMTC1_ENST00000552618.1_Silent_p.L745L|TMTC1_ENST00000551659.1_Silent_p.L783L|RP11-310I24.1_ENST00000549070.1_RNA	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	721						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACCAGTGCCAAGCGGAGCTCC	0.517																																																0													117	114	115					12																	29670368		2203	4300	6503	SO:0001819	synonymous_variant	83857				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2161T>C	chr12.hg19:g.29670368A>G			D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	hg19	CCDS53772.1																																																																																				0.517	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		G	29670368	A	G	29670368	2	3	117	1	0	0	0	0	0	0	0	1	16265	69	3	3		3	TMTC1	12	29670368	Silent	SNP	A	TCGA-AL-3472-01A-01D-1252-08	22783906	29670368	104181527	31	7200											
RBM19	9904	hgsc.bcm.edu	37	12	114397941	114397941	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:114397941C>T	ENST00000545145.2	-	3	340	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	RBM19_ENST00000261741.5_Missense_Mutation_p.A88T|RBM19_ENST00000392561.3_Missense_Mutation_p.A88T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	88					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTGCTCCAGGCTCTGGGTTTG	0.532																																																0													100	99	99					12																	114397941		2203	4300	6503	SO:0001583	missense	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.262G>A	chr12.hg19:g.114397941C>T	ENSP00000442053:p.Ala88Thr		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	hg19	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102307	0.56183	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.74315	-0.83;-0.83;-0.83	4.86	4.86	0.63082	Nucleotide-binding, alpha-beta plait (1);	0.116689	0.56097	D	0.000023	T	0.76716	0.4026	M	0.79258	2.445	0.48288	D	0.999627	P	0.44478	0.836	B	0.41374	0.355	T	0.79381	-0.1827	10	0.40728	T	0.16	-26.8541	18.1761	0.89761	0.0:1.0:0.0:0.0	.	88	Q9Y4C8	RBM19_HUMAN	T	88	ENSP00000442053:A88T;ENSP00000376344:A88T;ENSP00000261741:A88T	ENSP00000261741:A88T	A	-	1	0	RBM19	112882324	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.397000	0.52572	2.513000	0.84729	0.557000	0.71058	GCC		0.532	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114397941	C	T	114397941	3	4	117	1	0	0	0	0	1	0	0	0	13127	797	28	2	2708	2	RBM19	12	114397941	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08	84727573	114397941	19453954	32	7201											
ULK1	8408	hgsc.bcm.edu	37	12	132393457	132393457	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:132393457G>A	ENST00000321867.4	+	7	856	c.505G>A	c.(505-507)Gcg>Acg	p.A169T		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTTCGGCTTCGCGCGGTACCT	0.711																																																0													60	59	59					12																	132393457		2203	4300	6503	SO:0001583	missense	8408			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.505G>A	chr12.hg19:g.132393457G>A	ENSP00000324560:p.Ala169Thr		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	hg19	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	36	5.828944	0.96996	.	.	ENSG00000177169	ENST00000321867;ENST00000537421;ENST00000542313	T;T;D	0.90133	0.97;0.97;-2.62	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95959	0.8684	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96254	0.9185	10	0.87932	D	0	-34.7466	19.3607	0.94436	0.0:0.0:1.0:0.0	.	169	O75385	ULK1_HUMAN	T	169;86;63	ENSP00000324560:A169T;ENSP00000438953:A86T;ENSP00000444983:A63T	ENSP00000324560:A169T	A	+	1	0	ULK1	130959410	1.000000	0.71417	0.295000	0.24960	0.974000	0.67602	7.537000	0.82033	2.651000	0.90000	0.455000	0.32223	GCG		0.711	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			A	132393457	G	A	132393457	3	1	117	1	0	0	0	0	1	0	0	0	16980	1087	38	1	531	1	ULK1	12	132393457	Missense_Mutation	SNP	G	TCGA-AL-3472-01A-01D-1252-08	17995516	132393457	1458438	33	7202											
ACYP1	97	hgsc.bcm.edu	37	14	75528414	75528414	+	Intron	SNP	G	G	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr14:75528414G>C	ENST00000238618.3	-	2	188				ACYP1_ENST00000555135.1_Missense_Mutation_p.P46A|ACYP1_ENST00000555463.1_Intron|ACYP1_ENST00000357971.3_Missense_Mutation_p.P46A|ACYP1_ENST00000555694.1_Intron	NM_001107.3	NP_001098.1	P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type						phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)	acylphosphatase activity (GO:0003998)			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		AAGCTAACTGGAACACAGCTC	0.358																																																0													69	67	68					14																	75528414		1872	4101	5973	SO:0001627	intron_variant	97			X84194	CCDS9838.1, CCDS45137.1	14q24.3	2014-08-08			ENSG00000119640	ENSG00000119640	3.6.1.7		179	protein-coding gene	gene with protein product		600875				7796909, 9730610	Standard	NM_001107		Approved		uc001xrg.3	P07311	OTTHUMG00000171767	ENST00000238618.3:c.84+1758C>G	chr14.hg19:g.75528414G>C			A6NDV8|B2R590	Missense_Mutation	SNP	ENST00000238618.3	hg19	CCDS9838.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198229	0.22037	.	.	ENSG00000119640	ENST00000357971;ENST00000555135	.	.	.	3.01	0.887	0.19200	.	.	.	.	.	T	0.36908	0.0984	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35450	-0.9788	7	0.87932	D	0	.	9.8551	0.41082	0.0:0.5438:0.4562:0.0	.	46	A6NDV8	.	A	46	.	ENSP00000350655:P46A	P	-	1	0	ACYP1	74598167	0.003000	0.15002	0.054000	0.19295	0.203000	0.24098	0.172000	0.16704	0.176000	0.19873	0.543000	0.68304	CCA		0.358	ACYP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415013.1			C	75528414	G	C	75528414	1	2	117	0	1	0	0	0	0	0	0	0	228	1174	41	4		4	ACYP1	14	75528414	Intron	SNP	G	TCGA-AL-3472-01A-01D-1252-08		75528414	31821126	34	7203											
LRRK1	79705	hgsc.bcm.edu	37	15	101592098	101592098	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr15:101592098C>A	ENST00000388948.3	+	24	3981	c.3622C>A	c.(3622-3624)Cac>Aac	p.H1208N	RP11-505E24.3_ENST00000558979.1_RNA|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.H1205N	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGCCCCAGACACCCGGACCT	0.617																																																0													53	62	59					15																	101592098		2037	4192	6229	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3622C>A	chr15.hg19:g.101592098C>A	ENSP00000373600:p.His1208Asn			Missense_Mutation	SNP	ENST00000388948.3	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194800	0.94960	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73789	-0.76;-0.78	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.83156	-0.0101	10	0.72032	D	0.01	.	19.2014	0.93713	0.0:1.0:0.0:0.0	.	1208	Q38SD2	LRRK1_HUMAN	N	1208;1205	ENSP00000373600:H1208N;ENSP00000284395:H1205N	ENSP00000284395:H1205N	H	+	1	0	LRRK1	99409621	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.669000	0.83911	2.541000	0.85698	0.655000	0.94253	CAC		0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101592098	C	A	101592098	3	1	117	1	0	0	0	0	1	0	0	0	9034	478	17	4	3712	4	LRRK1	15	101592098	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08		101592098	939294	35	7204											
SRRM2	23524	hgsc.bcm.edu	37	16	2814808	2814809	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr16:2814808_2814809insT	ENST00000301740.8	+	11	4828_4829	c.4279_4280insT	c.(4279-4281)atgfs	p.M1427fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1427	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTCTCCTGAAATGAAAGATGGT	0.505																																																0																																										SO:0001589	frameshift_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4280dupT	chr16.hg19:g.2814809_2814809dupT	ENSP00000301740:p.Met1427fs		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	hg19	CCDS32373.1																																																																																				0.505	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2814809	-	T	2814808	7	5	117	1	0	1	1	0	0	0	0	0	15174	101	4	0	4317	0	SRRM2	16	2814808	Frame_Shift_Ins	INS	-	TCGA-AL-3472-01A-01D-1252-08		2814808	87539945	36	7205											
CLEC16A	23274	hgsc.bcm.edu	37	16	11066855	11066855	+	Missense_Mutation	SNP	A	A	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr16:11066855A>C	ENST00000409790.1	+	7	895	c.665A>C	c.(664-666)aAt>aCt	p.N222T	CLEC16A_ENST00000409552.3_Missense_Mutation_p.N220T	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TACTTCTCCAATTTGGTCTGG	0.463																																																0													86	83	84					16																	11066855		1967	4159	6126	SO:0001583	missense	23274			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.665A>C	chr16.hg19:g.11066855A>C	ENSP00000387122:p.Asn222Thr			Missense_Mutation	SNP	ENST00000409790.1	hg19	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575730	0.86645	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.50813	0.73	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.70595	2.14	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.987;0.991	T	0.69161	-0.5218	10	0.51188	T	0.08	-24.4217	15.5133	0.75802	1.0:0.0:0.0:0.0	.	222;220	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	T	222;222;220	ENSP00000387122:N222T	ENSP00000386495:N220T	N	+	2	0	CLEC16A	10974356	1.000000	0.71417	0.937000	0.37676	0.978000	0.69477	9.228000	0.95250	2.251000	0.74343	0.528000	0.53228	AAT		0.463	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		C	11066855	A	C	11066855	3	2	117	1	0	0	0	0	1	0	0	0	3502	101	4	5	687	5	CLEC16A	16	11066855	Missense_Mutation	SNP	A	TCGA-AL-3472-01A-01D-1252-08	8252047	11066855	79287898	37	7206											
ZNF423	23090	hgsc.bcm.edu	37	16	49670867	49670867	+	Missense_Mutation	SNP	C	C	G	rs373085653		TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr16:49670867C>G	ENST00000561648.1	-	4	2249	c.2196G>C	c.(2194-2196)aaG>aaC	p.K732N	ZNF423_ENST00000567169.1_Missense_Mutation_p.K615N|ZNF423_ENST00000562871.1_Missense_Mutation_p.K672N|ZNF423_ENST00000535559.1_Missense_Mutation_p.K615N|ZNF423_ENST00000562520.1_Missense_Mutation_p.K672N|ZNF423_ENST00000563137.2_Missense_Mutation_p.K672N|ZNF423_ENST00000262383.2_Missense_Mutation_p.K732N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	732					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGATGGACACCTTGGAGTCGA	0.567																																																0													100	93	95					16																	49670867		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2196G>C	chr16.hg19:g.49670867C>G	ENSP00000455426:p.Lys732Asn		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	hg19	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872977	0.51695	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.30448	1.53;1.53	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	L	0.38531	1.155	0.53005	D	0.999969	D	0.89917	1.0	D	0.91635	0.999	T	0.31364	-0.9946	9	.	.	.	.	18.4141	0.90562	0.0:1.0:0.0:0.0	.	732	Q2M1K9	ZN423_HUMAN	N	732;615	ENSP00000262383:K732N;ENSP00000442321:K615N	.	K	-	3	2	ZNF423	48228368	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.361000	0.52306	2.352000	0.79861	0.561000	0.74099	AAG		0.567	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		G	49670867	C	G	49670867	3	3	117	1	0	0	0	0	1	0	0	0	17903	680	24	4	1678	4	ZNF423	16	49670867	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08	38604012	49670867	40683886	38	7207											
KIAA0513	9764	hgsc.bcm.edu	37	16	85100829	85100829	+	Missense_Mutation	SNP	C	C	T	rs148950418		TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr16:85100829C>T	ENST00000566428.1	+	2	783	c.152C>T	c.(151-153)gCg>gTg	p.A51V	KIAA0513_ENST00000258180.3_Missense_Mutation_p.A51V|KIAA0513_ENST00000567328.1_Missense_Mutation_p.A51V|KIAA0513_ENST00000538274.1_Missense_Mutation_p.A51V			O60268	K0513_HUMAN	KIAA0513	51						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACTGAGTCTGCGGACAGTGAG	0.647																																																0								C	VAL/ALA	1,4397	2.1+/-5.4	0,1,2198	72	58	63		152	4.5	0.2	16	dbSNP_134	63	0,8600		0,0,4300	no	missense	KIAA0513	NM_014732.2	64	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	51/412	85100829	1,12997	2199	4300	6499	SO:0001583	missense	9764			AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.152C>T	chr16.hg19:g.85100829C>T	ENSP00000457408:p.Ala51Val		B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	hg19	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700612	0.88924	2.27E-4	0.0	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.38240	1.15;1.15	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	M	0.67953	2.075	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.58239	-0.7671	10	0.41790	T	0.15	-15.5029	16.2567	0.82522	0.0:1.0:0.0:0.0	.	51;51	B4DSS5;O60268	.;K0513_HUMAN	V	51	ENSP00000446439:A51V;ENSP00000258180:A51V	ENSP00000258180:A51V	A	+	2	0	KIAA0513	83658330	1.000000	0.71417	0.218000	0.23776	0.820000	0.46376	6.939000	0.75911	2.234000	0.73211	0.561000	0.74099	GCG		0.647	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		T	85100829	C	T	85100829	3	4	117	1	0	0	0	0	1	0	0	0	8183	768	27	1	154	1	KIAA0513	16	85100829	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08	35429962	85100829	5253924	39	7208											
MYH13	8735	hgsc.bcm.edu	37	17	10258306	10258306	+	Silent	SNP	C	C	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr17:10258306C>G	ENST00000418404.3	-	9	970	c.807G>C	c.(805-807)ctG>ctC	p.L269L	MYH13_ENST00000252172.4_Silent_p.L269L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	269	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATTTTTCTAACAGATCTAAGG	0.368																																																0													71	70	71					17																	10258306		1848	4092	5940	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.807G>C	chr17.hg19:g.10258306C>G			O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	hg19	CCDS45613.1																																																																																				0.368	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		G	10258306	C	G	10258306	2	3	117	1	0	0	0	0	0	0	0	1	10034	465	17	4		4	MYH13	17	10258306	Silent	SNP	C	TCGA-AL-3472-01A-01D-1252-08		10258306	70936904	40	7209											
MPRIP	23164	hgsc.bcm.edu	37	17	17080727	17080727	+	Splice_Site	SNP	G	G	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr17:17080727G>A	ENST00000341712.4	+	21	2959		c.e21+1		MPRIP_ENST00000395804.3_Splice_Site|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395811.5_Splice_Site|RN7SL775P_ENST00000498361.2_RNA|MPRIP_ENST00000444976.1_Splice_Site			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TCCGGATATGGTGCGTCCTCG	0.582																																																0													64	57	59					17																	17080727		2203	4300	6503	SO:0001630	splice_region_variant	23164			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2959+1G>A	chr17.hg19:g.17080727G>A			Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Splice_Site	SNP	ENST00000341712.4	hg19	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232815	0.39498	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712;ENST00000313485;ENST00000414263;ENST00000429184	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9433	0.92612	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MPRIP	17021452	1.000000	0.71417	0.960000	0.40013	0.094000	0.18550	9.358000	0.97109	2.539000	0.85634	0.563000	0.77884	.		0.582	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134	Intron	A	17080727	G	A	17080727	5	1	117	1	0	0	0	0	0	0	1	0	9745	1275	44	2	3042	2	MPRIP	17	17080727	Splice_Site	SNP	G	TCGA-AL-3472-01A-01D-1252-08	6822421	17080727	64114483	41	7210											
NDUFS7	374291	hgsc.bcm.edu	37	19	1391140	1391140	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:1391140C>T	ENST00000233627.9	+	6	727	c.431C>T	c.(430-432)cCg>cTg	p.P144L	NDUFS7_ENST00000414651.2_Missense_Mutation_p.P174L|NDUFS7_ENST00000546283.1_Missense_Mutation_p.P144L|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000313408.7_Missense_Mutation_p.P144L|AC005329.7_ENST00000501448.1_RNA|NDUFS7_ENST00000539480.1_Missense_Mutation_p.P144L|AC005329.7_ENST00000589734.1_RNA|AC005329.7_ENST00000585596.1_RNA	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	144					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Doxorubicin(DB00997)	ATGCCGGAGCCGCGCTACGTG	0.687																																																0													22	24	23					19																	1391140		2201	4298	6499	SO:0001583	missense	374291			AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"Mitochondrial respiratory chain complex / Complex I"	7714	protein-coding gene	gene with protein product	"complex I 20kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"	601825	"NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.431C>T	chr19.hg19:g.1391140C>T	ENSP00000233627:p.Pro144Leu		B3KRI2|Q2T9H7|Q9BV17	Missense_Mutation	SNP	ENST00000233627.9	hg19	CCDS12063.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298050	0.40694	.	.	ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000414651;ENST00000538929;ENST00000538523;ENST00000540530;ENST00000535382	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	4.44	4.44	0.53790	NADH:ubiquinone oxidoreductase-like, 20kDa subunit (2);	.	.	.	.	D	0.96358	0.8812	H	0.97051	3.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;1.0;0.998;0.993	D	0.97936	1.0323	9	0.87932	D	0	.	15.6509	0.77091	0.0:1.0:0.0:0.0	.	144;151;144;144	F5H5N1;Q8NAS7;B3KRI2;O75251	.;.;.;NDUS7_HUMAN	L	144;144;144;144;174;63;63;63;63	ENSP00000440348:P144L;ENSP00000233627:P144L;ENSP00000443273:P144L;ENSP00000364262:P144L;ENSP00000406630:P174L	ENSP00000233627:P144L	P	+	2	0	NDUFS7	1342140	1.000000	0.71417	0.807000	0.32361	0.032000	0.12392	7.076000	0.76806	2.016000	0.59253	0.511000	0.50034	CCG		0.687	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	NM_024407		T	1391140	C	T	1391140	3	4	117	1	0	0	0	0	1	0	0	0	10299	652	23	1	453	1	NDUFS7	19	1391140	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08		1391140	57737843	42	7211											
EEF2	1938	hgsc.bcm.edu	37	19	3983291	3983293	+	Splice_Site	DEL	TGA	TGA	-	rs111408370		TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:3983291_3983293delTGA	ENST00000309311.6	-	3	307		c.e3-2		EEF2_ENST00000600720.1_Splice_Site|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2						cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGATGGCACTGATGGAGGGAGG	0.586																																					Colon(165;1804 1908 4071 6587 18799)											0																																										SO:0001630	splice_region_variant	1938			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.219-2TCA>-	chr19.hg19:g.3983291_3983293delTGA			B2RMP5|D6W618|Q58J86	Splice_Site	DEL	ENST00000309311.6	hg19	CCDS12117.1																																																																																				0.586	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961	Intron	-	3983293	TGA	-	3983291	8	5	117	1	0	1	0	1	0	0	1	0	4931	1594	55	0	2411	0	EEF2	19	3983291	Splice_Site	DEL	TGA	TCGA-AL-3472-01A-01D-1252-08	2592151	3983291	55145692	43	7212											
MUC16	94025	hgsc.bcm.edu	37	19	9063328	9063328	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:9063328T>C	ENST00000397910.4	-	3	24321	c.24118A>G	c.(24118-24120)Acc>Gcc	p.T8040A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8042	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTCAGAGGTGGCCAGTATT	0.458																																																0													130	120	124					19																	9063328		1946	4144	6090	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24118A>G	chr19.hg19:g.9063328T>C	ENSP00000381008:p.Thr8040Ala		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	8.827	0.938900	0.18281	.	.	ENSG00000181143	ENST00000397910	T	0.24908	1.83	2.66	-2.24	0.06909	.	.	.	.	.	T	0.28067	0.0692	L	0.35854	1.095	.	.	.	P	0.49961	0.93	P	0.54664	0.758	T	0.39313	-0.9620	8	0.87932	D	0	.	7.4725	0.27357	0.7363:0.0:0.0:0.2637	.	8040	B5ME49	.	A	8040	ENSP00000381008:T8040A	ENSP00000381008:T8040A	T	-	1	0	MUC16	8924328	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-1.059000	0.03479	-0.657000	0.05373	0.332000	0.21555	ACC		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9063328	T	C	9063328	3	2	117	1	0	0	0	0	1	0	0	0	9975	1696	59	3	19733	3	MUC16	19	9063328	Missense_Mutation	SNP	T	TCGA-AL-3472-01A-01D-1252-08	5080037	9063328	50065655	44	7213											
GGN	199720	hgsc.bcm.edu	37	19	38876904	38876904	+	Missense_Mutation	SNP	G	G	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:38876904G>T	ENST00000334928.6	-	3	1130	c.998C>A	c.(997-999)gCc>gAc	p.A333D	SPRED3_ENST00000587013.1_5'Flank|AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	333	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TAGGGCCCGGGCTTGGGACGC	0.677																																																0													28	32	30					19																	38876904		2201	4299	6500	SO:0001583	missense	199720			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.998C>A	chr19.hg19:g.38876904G>T	ENSP00000334940:p.Ala333Asp		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	hg19	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	6.337	0.430216	0.12045	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.33	0.957	0.19613	.	1.070480	0.07455	N	0.899668	T	0.21227	0.0511	N	0.24115	0.695	0.09310	N	1	B;B	0.32829	0.386;0.386	B;B	0.25405	0.06;0.06	T	0.18650	-1.0330	9	0.45353	T	0.12	0.4297	5.4042	0.16312	0.0:0.2275:0.5387:0.2338	.	250;333	Q86UU5-2;Q86UU5	.;GGN_HUMAN	D	333	.	ENSP00000334940:A333D	A	-	2	0	GGN	43568744	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.059000	0.11731	0.082000	0.17018	0.462000	0.41574	GCC		0.677	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		T	38876904	G	T	38876904	3	4	117	1	0	0	0	0	1	0	0	0	6360	1203	42	4	968	4	GGN	19	38876904	Missense_Mutation	SNP	G	TCGA-AL-3472-01A-01D-1252-08	29813576	38876904	20252079	45	7214											
PRR12	57479	hgsc.bcm.edu	37	19	50102854	50102854	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:50102854C>T	ENST00000418929.2	+	5	4016	c.4004C>T	c.(4003-4005)cCc>cTc	p.P1335L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GTGCCACATCCCCCACCTTCC	0.697																																																0													12	15	14					19																	50102854		1955	4119	6074	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4004C>T	chr19.hg19:g.50102854C>T	ENSP00000394510:p.Pro1335Leu		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	hg19	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	4.945	0.175637	0.09391	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.34	4.34	0.51931	.	0.157267	0.30338	N	0.009842	T	0.56949	0.2020	L	0.42245	1.32	0.48762	D	0.999702	B	0.20164	0.042	B	0.28709	0.093	T	0.58907	-0.7553	9	0.56958	D	0.05	-10.4584	14.2367	0.65932	0.0:1.0:0.0:0.0	.	1335	Q9ULL5-3	.	L	1335;515;515	.	ENSP00000246798:P515L	P	+	2	0	PRR12	54794666	0.029000	0.19370	0.156000	0.22583	0.027000	0.11550	3.359000	0.52292	2.424000	0.82194	0.563000	0.77884	CCC		0.697	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		T	50102854	C	T	50102854	3	4	117	1	0	0	0	0	1	0	0	0	12589	623	22	2	4022	2	PRR12	19	50102854	Missense_Mutation	SNP	C	TCGA-AL-3472-01A-01D-1252-08	11225950	50102854	9026129	46	7215											
NLRP8	126205	hgsc.bcm.edu	37	19	56459468	56459468	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:56459468G>A	ENST00000291971.3	+	1	271	c.200G>A	c.(199-201)gGc>gAc	p.G67D	NLRP8_ENST00000590542.1_Missense_Mutation_p.G67D	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	67	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCAGTACTGGCACCATGCCC	0.557																																																0													105	84	91					19																	56459468		2203	4300	6503	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.200G>A	chr19.hg19:g.56459468G>A	ENSP00000291971:p.Gly67Asp		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	hg19	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	5.435	0.265352	0.10294	.	.	ENSG00000179709	ENST00000291971	T	0.59083	0.29	1.98	-0.375	0.12509	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.45094	0.1325	L	0.47716	1.5	0.09310	N	1	B;B	0.24576	0.1;0.106	B;B	0.33295	0.056;0.161	T	0.38478	-0.9659	9	0.20046	T	0.44	.	2.9915	0.05984	0.1879:0.2955:0.5166:0.0	.	67;67	Q86W28-2;Q86W28	.;NALP8_HUMAN	D	67	ENSP00000291971:G67D	ENSP00000291971:G67D	G	+	2	0	NLRP8	61151280	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.665000	0.25083	-0.014000	0.14175	0.514000	0.50259	GGC		0.557	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		A	56459468	G	A	56459468	3	1	117	1	0	0	0	0	1	0	0	0	10485	1203	42	2	202	2	NLRP8	19	56459468	Missense_Mutation	SNP	G	TCGA-AL-3472-01A-01D-1252-08	6356614	56459468	2669515	47	7216											
ZNF583	147949	hgsc.bcm.edu	37	19	56934490	56934490	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:56934490A>T	ENST00000333201.9	+	5	673	c.463A>T	c.(463-465)Aat>Tat	p.N155Y	ZNF583_ENST00000291598.7_Missense_Mutation_p.N155Y	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AGAAGTTCAAAATAAAGAATA	0.363																																																0													71	78	76					19																	56934490		2202	4300	6502	SO:0001583	missense	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.463A>T	chr19.hg19:g.56934490A>T	ENSP00000388502:p.Asn155Tyr		O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	hg19	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236222	0.39498	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.01034	5.42;5.42	4.19	3.17	0.36434	.	0.536023	0.17228	N	0.182048	T	0.00468	0.0015	N	0.01464	-0.85	0.24096	N	0.995892	B	0.11235	0.004	B	0.06405	0.002	T	0.45731	-0.9241	9	.	.	.	.	7.714	0.28694	0.8962:0.0:0.1038:0.0	.	155	Q96ND8	ZN583_HUMAN	Y	155	ENSP00000291598:N155Y;ENSP00000388502:N155Y	.	N	+	1	0	ZNF583	61626302	0.000000	0.05858	0.416000	0.26546	0.379000	0.30106	0.567000	0.23608	0.776000	0.33473	0.379000	0.24179	AAT		0.363	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		T	56934490	A	T	56934490	3	4	117	1	0	0	0	0	1	0	0	0	18020	14	1	5	477	5	ZNF583	19	56934490	Missense_Mutation	SNP	A	TCGA-AL-3472-01A-01D-1252-08	475022	56934490	2194493	48	7217											
PLTP	5360	hgsc.bcm.edu	37	20	44534919	44534919	+	Silent	SNP	G	G	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr20:44534919G>A	ENST00000477313.1	-	7	1287	c.693C>T	c.(691-693)gaC>gaT	p.D231D	PLTP_ENST00000372420.1_Silent_p.D143D|PLTP_ENST00000420868.2_Silent_p.D136D|PLTP_ENST00000354050.4_Silent_p.D179D|PLTP_ENST00000372431.3_Silent_p.D231D|PLTP_ENST00000542937.1_Silent_p.D251D			P55058	PLTP_HUMAN	phospholipid transfer protein	231					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GGAAGTCCATGTCCAGGTTGC	0.507																																																0													102	82	89					20																	44534919		2203	4300	6503	SO:0001819	synonymous_variant	5360			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.693C>T	chr20.hg19:g.44534919G>A			A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	hg19	CCDS13386.1																																																																																				0.507	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		A	44534919	G	A	44534919	2	1	117	1	0	0	0	0	0	0	0	1	12116	1368	48	2		2	PLTP	20	44534919	Silent	SNP	G	TCGA-AL-3472-01A-01D-1252-08		44534919	18490601	49	7218											
SLC12A5	57468	hgsc.bcm.edu	37	20	44670175	44670175	+	Silent	SNP	C	C	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr20:44670175C>T	ENST00000454036.2	+	8	1180	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	SLC12A5_ENST00000243964.3_Silent_p.I354I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	377					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGGCCTCATCAAAGGTCTGC	0.557																																																0													53	50	51					20																	44670175		2203	4300	6503	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1131C>T	chr20.hg19:g.44670175C>T			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	hg19	CCDS46610.1																																																																																				0.557	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			T	44670175	C	T	44670175	2	4	117	1	0	0	0	0	0	0	0	1	14392	816	29	2		2	SLC12A5	20	44670175	Silent	SNP	C	TCGA-AL-3472-01A-01D-1252-08	135256	44670175	18355345	50	7219											
PCK1	5105	hgsc.bcm.edu	37	20	56140816	56140817	+	Frame_Shift_Del	DEL	GA	GA	-	rs17847705		TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr20:56140816_56140817delGA	ENST00000319441.4	+	10	1989_1990	c.1825_1826delGA	c.(1825-1827)gagfs	p.E609fs	PCK1_ENST00000543666.1_Frame_Shift_Del_p.E292fs	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	609					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGTGAAATCGAGAGAGAGATC	0.47																																																0																																										SO:0001589	frameshift_variant	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1825_1826delGA	chr20.hg19:g.56140824_56140825delGA	ENSP00000319814:p.Glu609fs		A8K437|B4DT64|Q8TCA3|Q9UJD2	Frame_Shift_Del	DEL	ENST00000319441.4	hg19	CCDS13460.1																																																																																				0.47	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			-	56140817	GA	-	56140816	7	5	117	1	0	1	0	1	0	0	0	0	11583	1059	37	0	1859	0	PCK1	20	56140816	Frame_Shift_Del	DEL	GA	TCGA-AL-3472-01A-01D-1252-08	11470641	56140816	6884704	51	7220											
PFKL	5211	hgsc.bcm.edu	37	21	45743723	45743723	+	Silent	SNP	C	C	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr21:45743723C>T	ENST00000349048.4	+	16	1627	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	PFKL_ENST00000403390.1_Silent_p.I571I	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	524	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGTGTGTCATCCCAGCCACCA	0.642																																																0													114	78	91					21																	45743723		2201	4300	6501	SO:0001819	synonymous_variant	5211				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1572C>T	chr21.hg19:g.45743723C>T			Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	hg19	CCDS33582.1																																																																																				0.642	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			T	45743723	C	T	45743723	2	4	117	1	0	0	0	0	0	0	0	1	11766	845	30	2		2	PFKL	21	45743723	Silent	SNP	C	TCGA-AL-3472-01A-01D-1252-08		45743723	2386172	52	7221											
INPP5J	27124	hgsc.bcm.edu	37	22	31523948	31523948	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr22:31523948G>C	ENST00000331075.5	+	7	1848	c.1799G>C	c.(1798-1800)tGg>tCg	p.W600S	INPP5J_ENST00000400294.2_Missense_Mutation_p.W233S|INPP5J_ENST00000412277.2_Missense_Mutation_p.W533S|INPP5J_ENST00000401755.1_5'UTR|INPP5J_ENST00000404390.3_Missense_Mutation_p.W232S|INPP5J_ENST00000402238.1_5'UTR|INPP5J_ENST00000404453.1_5'UTR|INPP5J_ENST00000405300.1_Missense_Mutation_p.W233S	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	600	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CTCGTGTTCTGGTTCGGGGAC	0.577																																																0													47	45	45					22																	31523948		1913	4119	6032	SO:0001583	missense	27124			U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1799G>C	chr22.hg19:g.31523948G>C	ENSP00000333262:p.Trp600Ser		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	hg19		.	.	.	.	.	.	.	.	.	.	G	19.90	3.913228	0.72983	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	4.76	4.76	0.60689	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.93792	0.8015	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.96283	0.9208	10	0.87932	D	0	.	17.7408	0.88406	0.0:0.0:1.0:0.0	.	533;600;232	B4DF95;Q15735;Q15735-3	.;PI5PA_HUMAN;.	S	600;533;233;233;232	ENSP00000333262:W600S;ENSP00000392924:W533S;ENSP00000383150:W233S;ENSP00000384596:W233S;ENSP00000384534:W232S	ENSP00000333262:W600S	W	+	2	0	INPP5J	29853948	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	9.343000	0.97047	2.329000	0.79093	0.655000	0.94253	TGG		0.577	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		C	31523948	G	C	31523948	3	2	117	1	0	0	0	0	1	0	0	0	7761	1357	47	4	721	4	INPP5J	22	31523948	Missense_Mutation	SNP	G	TCGA-AL-3472-01A-01D-1252-08		31523948	19780618	53	7222											
MEI1	150365	hgsc.bcm.edu	37	22	42191444	42191444	+	Silent	SNP	C	C	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr22:42191444C>A	ENST00000401548.3	+	29	3604	c.3564C>A	c.(3562-3564)ctC>ctA	p.L1188L	MEI1_ENST00000400107.1_Silent_p.L521L|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Intron	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCAGTGTCCTCTCTCATGAAG	0.542																																																0													154	156	155					22																	42191444		2039	4204	6243	SO:0001819	synonymous_variant	150365			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3564C>A	chr22.hg19:g.42191444C>A				Silent	SNP	ENST00000401548.3	hg19	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	c	0.075	-1.194186	0.01594	.	.	ENSG00000167077	ENST00000423900	.	.	.	5.01	1.65	0.23941	.	0.552403	0.16357	N	0.217956	T	0.56108	0.1963	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54906	-0.8223	6	0.87932	D	0	-15.0087	2.2726	0.04095	0.1575:0.5189:0.1526:0.171	.	.	.	.	I	7	.	ENSP00000410973:L7I	L	+	1	0	MEI1	40521390	0.219000	0.23619	0.509000	0.27700	0.069000	0.16628	-0.099000	0.11007	0.139000	0.18822	-0.521000	0.04368	CTC		0.542	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		A	42191444	C	A	42191444	2	1	117	1	0	0	0	0	0	0	0	1	9467	900	32	4		4	MEI1	22	42191444	Silent	SNP	C	TCGA-AL-3472-01A-01D-1252-08	10667496	42191444	9113122	54	7223											
SCMH1	22955	hgsc.bcm.edu	37	1	41503104	41503104	+	Silent	SNP	G	G	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr1:41503104G>A	ENST00000326197.7	-	12	1877	c.1578C>T	c.(1576-1578)caC>caT	p.H526H	SCMH1_ENST00000372597.1_Silent_p.H479H|SCMH1_ENST00000361705.3_Silent_p.H479H|SCMH1_ENST00000402904.2_Silent_p.H526H|SCMH1_ENST00000372596.1_Silent_p.H465H|SCMH1_ENST00000456518.2_Silent_p.H368H|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000397171.2_Silent_p.H465H|SCMH1_ENST00000337495.5_Silent_p.H536H|SCMH1_ENST00000361191.5_Silent_p.H465H|SCMH1_ENST00000397174.2_Silent_p.H506H|SCMH1_ENST00000372595.1_Silent_p.H465H					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GCAAGGGCCGGTGCCTTTGGG	0.587																																																0													200	179	186					1																	41503104		2203	4300	6503	SO:0001819	synonymous_variant	22955			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1578C>T	chr1.hg19:g.41503104G>A				Silent	SNP	ENST00000326197.7	hg19	CCDS30688.1																																																																																				0.587	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			A	41503104	G	A	41503104	2	1	118	1	0	0	0	0	0	0	0	1	13914	1252	44	2		2	SCMH1	1	41503104	Silent	SNP	G	TCGA-AL-3473-01A-01D-1252-08		41503104	207747517	1	7224											
PTGFR	5737	hgsc.bcm.edu	37	1	78959187	78959187	+	Silent	SNP	G	G	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr1:78959187G>A	ENST00000370757.3	+	2	996	c.759G>A	c.(757-759)gcG>gcA	p.A253A	PTGFR_ENST00000370756.3_Silent_p.A253A|PTGFR_ENST00000370758.1_Silent_p.A253A	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	253					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.A253A(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	AGCTCCTGGCGATAATGTGTG	0.393																																																2	Substitution - coding silent(2)	skin(2)											52	49	50					1																	78959187		2203	4300	6503	SO:0001819	synonymous_variant	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.759G>A	chr1.hg19:g.78959187G>A			A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Silent	SNP	ENST00000370757.3	hg19	CCDS686.1																																																																																				0.393	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		A	78959187	G	A	78959187	2	1	118	1	0	0	0	0	0	0	0	1	12755	1045	37	1		1	PTGFR	1	78959187	Silent	SNP	G	TCGA-AL-3473-01A-01D-1252-08	37456083	78959187	170291434	2	7225											
PEX19	5824	hgsc.bcm.edu	37	1	160253370	160253370	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr1:160253370C>T	ENST00000368072.5	-	2	151	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000608310.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	44	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCATCAGGGGCCGTGGTGGTA	0.562																																																0													65	67	66					1																	160253370		2203	4300	6503	SO:0001583	missense	5824			Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"housekeeping gene, 33kD"	600279	"peroxisomal farnesylated protein"	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.130G>A	chr1.hg19:g.160253370C>T	ENSP00000357051:p.Ala44Thr		D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	hg19	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417114	0.62511	.	.	ENSG00000162735	ENST00000368072;ENST00000429425;ENST00000392220	.	.	.	4.61	0.66	0.17868	.	0.463549	0.23343	N	0.049217	T	0.12263	0.0298	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11792	-1.0573	9	0.13853	T	0.58	-0.5735	5.3692	0.16131	0.0:0.5415:0.1411:0.3175	.	44	P40855	PEX19_HUMAN	T	44;24;24	.	ENSP00000357051:A44T	A	-	1	0	PEX19	158519994	0.994000	0.37717	0.887000	0.34795	0.892000	0.51952	3.040000	0.49799	-0.022000	0.13986	-0.217000	0.12591	GCC		0.562	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		T	160253370	C	T	160253370	3	4	118	1	0	0	0	0	1	0	0	0	11746	739	26	2	797	2	PEX19	1	160253370	Missense_Mutation	SNP	C	TCGA-AL-3473-01A-01D-1252-08	81294183	160253370	88997251	3	7226											
SPHKAP	80309	hgsc.bcm.edu	37	2	228882137	228882137	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr2:228882137C>T	ENST00000392056.3	-	7	3479	c.3433G>A	c.(3433-3435)Gag>Aag	p.E1145K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1145K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1145						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCAGTAACTCAAATCCTCTC	0.527																																																0													65	54	58					2																	228882137		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3433G>A	chr2.hg19:g.228882137C>T	ENSP00000375909:p.Glu1145Lys		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	hg19	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054264	0.93793	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.62498	0.02;0.02	5.57	5.57	0.84162	.	0.089852	0.85682	D	0.000000	T	0.65842	0.2730	N	0.19112	0.55	0.58432	D	0.999995	P;D;D	0.65815	0.952;0.995;0.99	P;P;P	0.59487	0.601;0.82;0.858	T	0.69793	-0.5049	10	0.72032	D	0.01	.	18.8971	0.92427	0.0:1.0:0.0:0.0	.	176;1145;1145	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	K	1145	ENSP00000375909:E1145K;ENSP00000339886:E1145K	ENSP00000339886:E1145K	E	-	1	0	SPHKAP	228590381	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	7.152000	0.77419	2.785000	0.95823	0.655000	0.94253	GAG		0.527	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228882137	C	T	228882137	3	4	118	1	0	0	0	0	1	0	0	0	15053	835	29	2	1693	2	SPHKAP	2	228882137	Missense_Mutation	SNP	C	TCGA-AL-3473-01A-01D-1252-08		228882137	14317236	4	7227											
VHL	7428	hgsc.bcm.edu	37	3	10188203	10188204	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:10188203_10188204insT	ENST00000256474.2	+	2	1186_1187	c.346_347insT	c.(346-348)cttfs	p.L116fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(3)|p.L116fs*43(3)|p.W117fs*14(2)|p.L116V(1)|p.H115fs*15(1)|p.L116fs*16(1)|p.W117fs*42(1)|p.H115fs*41(1)|p.H115fs*42(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GATAGGTCACCTTTGGCTCTTC	0.53		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	14	Deletion - Frameshift(9)|Unknown(3)|Substitution - Missense(1)|Insertion - Frameshift(1)	kidney(14)	GRCh37	CM961424	VHL	M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.349dupT	chr3.hg19:g.10188206_10188206dupT	ENSP00000256474:p.Leu116fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	hg19	CCDS2597.1																																																																																				0.53	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188204	-	T	10188203	7	5	118	1	0	1	1	0	0	0	0	0	17167	681	24	0	352	0	VHL	3	10188203	Frame_Shift_Ins	INS	-	TCGA-AL-3473-01A-01D-1252-08		10188203	187834227	5	7228											
OXSM	54995	hgsc.bcm.edu	37	3	25832524	25832524	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:25832524C>A	ENST00000280701.3	+	2	112	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	OXSM_ENST00000449808.1_3'UTR|NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Missense_Mutation_p.L5M	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	5					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCCAACTGCCTGCAAAATTT	0.368																																																0													83	88	86					3																	25832524		2203	4300	6503	SO:0001583	missense	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"beta-ketoacyl synthase"	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.13C>A	chr3.hg19:g.25832524C>A	ENSP00000280701:p.Leu5Met			Missense_Mutation	SNP	ENST00000280701.3	hg19	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	C	7.760	0.705106	0.15172	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	4.84	3.7	0.42460	.	1.003210	0.08029	N	0.993289	T	0.24774	0.0601	N	0.08118	0	0.24531	N	0.994111	P;P	0.47677	0.899;0.838	P;B	0.51355	0.667;0.372	T	0.14117	-1.0484	9	0.52906	T	0.07	-10.4228	5.7793	0.18297	0.0:0.0885:0.1686:0.7429	.	5;5	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	M	5	.	ENSP00000280701:L5M	L	+	1	2	OXSM	25807528	0.036000	0.19791	0.572000	0.28498	0.418000	0.31294	0.834000	0.27518	0.992000	0.38840	-0.367000	0.07326	CTG		0.368	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		A	25832524	C	A	25832524	3	1	118	1	0	0	0	0	1	0	0	0	11337	680	24	4	15	4	OXSM	3	25832524	Missense_Mutation	SNP	C	TCGA-AL-3473-01A-01D-1252-08	15644321	25832524	172189906	6	7229											
LAMB2	3913	hgsc.bcm.edu	37	3	49167097	49167098	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:49167097_49167098delGG	ENST00000418109.1	-	12	1621_1622	c.1457_1458delCC	c.(1456-1458)cccfs	p.P486fs	LAMB2_ENST00000305544.4_Frame_Shift_Del_p.P486fs	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	486	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCCACTGTTGGGGTCACAAGG	0.559																																																0																																										SO:0001589	frameshift_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1457_1458delCC	chr3.hg19:g.49167099_49167100delGG	ENSP00000388325:p.Pro486fs		Q16321	Frame_Shift_Del	DEL	ENST00000418109.1	hg19	CCDS2789.1																																																																																				0.559	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		-	49167098	GG	-	49167097	7	5	118	1	0	1	0	1	0	0	0	0	8613	1335	47	0	4026	0	LAMB2	3	49167097	Frame_Shift_Del	DEL	GG	TCGA-AL-3473-01A-01D-1252-08	23334573	49167097	148855333	7	7230											
BAP1	8314	hgsc.bcm.edu	37	3	52437889	52437889	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:52437889delC	ENST00000460680.1	-	13	1743	c.1272delG	c.(1270-1272)gggfs	p.G424fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.G406fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K425fs*4(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCCTGGCTTCCCTGTTCCCT	0.557			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	kidney(1)											85	89	88					3																	52437889		2203	4300	6503	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1272delG	chr3.hg19:g.52437889delC	ENSP00000417132:p.Gly424fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	hg19	CCDS2853.1																																																																																				0.557	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52437889	C	-	52437889	7	5	118	1	0	1	0	1	0	0	0	0	1311	842	30	0	937	0	BAP1	3	52437889	Frame_Shift_Del	DEL	C	TCGA-AL-3473-01A-01D-1252-08	3270792	52437889	145584541	8	7231											
PROS1	5627	hgsc.bcm.edu	37	3	93624723	93624723	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:93624723C>G	ENST00000394236.3	-	6	822	c.506G>C	c.(505-507)gGa>gCa	p.G169A	PROS1_ENST00000407433.1_Missense_Mutation_p.G38A	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	169	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACTGCAACCTCCATTTATATT	0.299																																																0													77	79	78					3																	93624723		2199	4296	6495	SO:0001583	missense	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.506G>C	chr3.hg19:g.93624723C>G	ENSP00000377783:p.Gly169Ala		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	hg19	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464378	0.63513	.	.	ENSG00000184500	ENST00000394236;ENST00000407433;ENST00000348974;ENST00000472684	D;D;D;D	0.98329	-4.87;-4.87;-4.87;-1.67	4.44	4.44	0.53790	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.125904	0.53938	D	0.000053	D	0.96334	0.8804	M	0.67397	2.05	0.40346	D	0.979083	P	0.46064	0.872	B	0.35655	0.207	D	0.96712	0.9526	10	0.62326	D	0.03	.	13.0646	0.59025	0.0:0.8385:0.1615:0.0	.	169	P07225	PROS_HUMAN	A	169;38;201;38	ENSP00000377783:G169A;ENSP00000385794:G38A;ENSP00000330021:G201A;ENSP00000419616:G38A	ENSP00000330021:G201A	G	-	2	0	PROS1	95107413	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.172000	0.42463	2.314000	0.78098	0.484000	0.47621	GGA		0.299	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		G	93624723	C	G	93624723	3	3	118	1	0	0	0	0	1	0	0	0	12563	855	30	4	1564	4	PROS1	3	93624723	Missense_Mutation	SNP	C	TCGA-AL-3473-01A-01D-1252-08	41186834	93624723	104397707	9	7232											
GPBP1	65056	hgsc.bcm.edu	37	5	56542173	56542173	+	Silent	SNP	T	T	A	rs371740495		TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr5:56542173T>A	ENST00000506184.2	+	7	1630	c.525T>A	c.(523-525)atT>atA	p.I175I	GPBP1_ENST00000454432.2_Silent_p.I195I|GPBP1_ENST00000424459.3_Silent_p.I195I|GPBP1_ENST00000264779.6_Silent_p.I182I|GPBP1_ENST00000538707.1_Silent_p.I182I|GPBP1_ENST00000511209.1_Silent_p.I182I|GPBP1_ENST00000514387.2_Silent_p.I4I			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	175					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TGCTGGTCATTAAGAAAGGTA	0.383																																																0													84	86	85					5																	56542173		2203	4300	6503	SO:0001819	synonymous_variant	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.525T>A	chr5.hg19:g.56542173T>A			A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Silent	SNP	ENST00000506184.2	hg19	CCDS34162.1																																																																																				0.383	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		A	56542173	T	A	56542173	2	1	118	1	0	0	0	0	0	0	0	1	6597	1742	61	5		5	GPBP1	5	56542173	Silent	SNP	T	TCGA-AL-3473-01A-01D-1252-08		56542173	124373087	10	7233											
PCDHA4	56144	hgsc.bcm.edu	37	5	140188710	140188710	+	Silent	SNP	C	C	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr5:140188710C>T	ENST00000530339.1	+	1	1938	c.1938C>T	c.(1936-1938)cgC>cgT	p.R646R	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R646R|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.R646R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCCACCGCCTACTGGTAC	0.682																																																0													74	76	75					5																	140188710		2203	4300	6503	SO:0001819	synonymous_variant	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1938C>T	chr5.hg19:g.140188710C>T			O75285|Q2M253	Silent	SNP	ENST00000530339.1	hg19	CCDS54916.1																																																																																				0.682	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140188710	C	T	140188710	2	4	118	1	0	0	0	0	0	0	0	1	11528	726	26	2		2	PCDHA4	5	140188710	Silent	SNP	C	TCGA-AL-3473-01A-01D-1252-08	83646537	140188710	40726550	11	7234											
ARSI	340075	hgsc.bcm.edu	37	5	149677875	149677875	+	Missense_Mutation	SNP	G	G	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr5:149677875G>T	ENST00000328668.7	-	2	1191	c.612C>A	c.(610-612)agC>agA	p.S204R		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	204					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTACTGGCCGCTGAGCCCCC	0.607																																																0													59	56	57					5																	149677875		2203	4300	6503	SO:0001583	missense	340075			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.612C>A	chr5.hg19:g.149677875G>T	ENSP00000333395:p.Ser204Arg		A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	hg19	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	9.783	1.175888	0.21704	.	.	ENSG00000183876	ENST00000328668;ENST00000515301;ENST00000509146	D;D;D	0.98633	-5.04;-5.04;-5.04	4.31	-3.25	0.05079	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.346719	0.35772	N	0.002983	D	0.91236	0.7238	N	0.01257	-0.925	0.32291	N	0.566281	B	0.06786	0.001	B	0.12156	0.007	T	0.82244	-0.0553	10	0.20046	T	0.44	.	13.7168	0.62702	0.7322:0.0:0.2678:0.0	.	204	Q5FYB1	ARSI_HUMAN	R	204;61;61	ENSP00000333395:S204R;ENSP00000426879:S61R;ENSP00000420955:S61R	ENSP00000333395:S204R	S	-	3	2	ARSI	149658068	0.000000	0.05858	0.974000	0.42286	0.992000	0.81027	-1.644000	0.02002	-0.629000	0.05575	0.555000	0.69702	AGC		0.607	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		T	149677875	G	T	149677875	3	4	118	1	0	0	0	0	1	0	0	0	994	1078	38	4	1101	4	ARSI	5	149677875	Missense_Mutation	SNP	G	TCGA-AL-3473-01A-01D-1252-08	9489165	149677875	31237385	12	7235											
NOD1	10392	hgsc.bcm.edu	37	7	30472766	30472766	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr7:30472766A>G	ENST00000222823.4	-	12	3176	c.2651T>C	c.(2650-2652)gTg>gCg	p.V884A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	884					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						ACTCTCTGCCACTTCATCGTT	0.393																																																0													133	117	123					7																	30472766		2203	4300	6503	SO:0001583	missense	10392			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2651T>C	chr7.hg19:g.30472766A>G	ENSP00000222823:p.Val884Ala		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	hg19	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	A	3.545	-0.092917	0.07053	.	.	ENSG00000106100	ENST00000222823	T	0.51574	0.7	5.74	0.404	0.16355	.	0.399974	0.28544	N	0.014963	T	0.14013	0.0339	N	0.00815	-1.16	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09885	-1.0654	10	0.12103	T	0.63	.	8.3537	0.32318	0.5662:0.0:0.4338:0.0	.	884	Q9Y239	NOD1_HUMAN	A	884	ENSP00000222823:V884A	ENSP00000222823:V884A	V	-	2	0	NOD1	30439291	0.488000	0.25996	0.983000	0.44433	0.937000	0.57800	0.908000	0.28545	0.117000	0.18138	0.460000	0.39030	GTG		0.393	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			G	30472766	A	G	30472766	3	3	118	1	0	0	0	0	1	0	0	0	10518	159	6	3	222	3	NOD1	7	30472766	Missense_Mutation	SNP	A	TCGA-AL-3473-01A-01D-1252-08		30472766	128665897	13	7236											
KIAA1967	57805	hgsc.bcm.edu	37	8	22474942	22474942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr8:22474942delG	ENST00000308511.4	+	15	2104	c.1855delG	c.(1855-1857)gggfs	p.G619fs	CCAR2_ENST00000389279.3_Frame_Shift_Del_p.G619fs|CCAR2_ENST00000520861.1_Frame_Shift_Del_p.G294fs|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	619					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GAAGGAGGATGGGCTTTTGCC	0.502																																																0													101	113	109					8																	22474942		2203	4300	6503	SO:0001589	frameshift_variant	57805			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1855delG	chr8.hg19:g.22474942delG	ENSP00000310670:p.Gly619fs		A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Frame_Shift_Del	DEL	ENST00000308511.4	hg19	CCDS34863.1																																																																																				0.502	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		-	22474942	G	-	22474942	7	5	118	1	0	1	0	1	0	0	0	0	8267	1348	47	0	1909	0	KIAA1967	8	22474942	Frame_Shift_Del	DEL	G	TCGA-AL-3473-01A-01D-1252-08		22474942	123889080	14	7237											
CUEDC2	79004	hgsc.bcm.edu	37	10	104184514	104184514	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr10:104184514C>T	ENST00000369937.4	-	3	255	c.110G>A	c.(109-111)gGg>gAg	p.G37E	CUEDC2_ENST00000465409.1_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	37						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTCCAGGACCCCAAGCACATA	0.592																																																0													45	49	48					10																	104184514		1955	4136	6091	SO:0001583	missense	79004			BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"chromosome 10 open reading frame 66"	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.110G>A	chr10.hg19:g.104184514C>T	ENSP00000358953:p.Gly37Glu		D3DR88|Q9BWG8	Missense_Mutation	SNP	ENST00000369937.4	hg19	CCDS41566.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419316	0.83559	.	.	ENSG00000107874	ENST00000369937	D	0.85088	-1.94	5.36	5.36	0.76844	.	0.051192	0.85682	D	0.000000	D	0.89061	0.6608	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90111	0.4192	10	0.87932	D	0	-28.8879	18.4607	0.90737	0.0:1.0:0.0:0.0	.	37	Q9H467	CUED2_HUMAN	E	37	ENSP00000358953:G37E	ENSP00000358953:G37E	G	-	2	0	CUEDC2	104174504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.245000	0.78237	2.688000	0.91661	0.561000	0.74099	GGG		0.592	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	NM_024040		T	104184514	C	T	104184514	3	4	118	1	0	0	0	0	1	0	0	0	4055	623	22	2	781	2	CUEDC2	10	104184514	Missense_Mutation	SNP	C	TCGA-AL-3473-01A-01D-1252-08		104184514	31350233	15	7238											
SORCS3	22986	hgsc.bcm.edu	37	10	107022222	107022222	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr10:107022222G>C	ENST00000369701.3	+	26	3804	c.3577G>C	c.(3577-3579)Gac>Cac	p.D1193H		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1193					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGAGCTGCTGGACAAAGAGCT	0.542																																					NSCLC(116;1497 1690 7108 13108 14106)											0													69	55	60					10																	107022222		2203	4300	6503	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3577G>C	chr10.hg19:g.107022222G>C	ENSP00000358715:p.Asp1193His		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	hg19	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902493	0.92035	.	.	ENSG00000156395	ENST00000369701	T	0.19394	2.15	5.84	5.84	0.93424	.	0.105330	0.64402	D	0.000004	T	0.34106	0.0886	N	0.24115	0.695	0.58432	D	0.999998	D	0.76494	0.999	D	0.70935	0.971	T	0.02512	-1.1148	9	.	.	.	.	20.1579	0.98126	0.0:0.0:1.0:0.0	.	1193	Q9UPU3	SORC3_HUMAN	H	1193	ENSP00000358715:D1193H	.	D	+	1	0	SORCS3	107012212	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.767000	0.95098	0.555000	0.69702	GAC		0.542	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		C	107022222	G	C	107022222	3	2	118	1	0	0	0	0	1	0	0	0	14938	1174	41	4	3679	4	SORCS3	10	107022222	Missense_Mutation	SNP	G	TCGA-AL-3473-01A-01D-1252-08	2837708	107022222	28512525	16	7239											
MUC2	4583	hgsc.bcm.edu	37	11	1104253	1104253	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:1104253G>A	ENST00000441003.2	+	49	8471	c.8444G>A	c.(8443-8445)gGg>gAg	p.G2815E		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5177					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCATCTGGGGAGCGGGTGA	0.692																																																0													27	31	30					11																	1104253		1848	4082	5930	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8444G>A	chr11.hg19:g.1104253G>A	ENSP00000415183:p.Gly2815Glu		Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	G	6.142	0.394436	0.11638	.	.	ENSG00000198788	ENST00000441003	T	0.14516	2.5	2.52	0.508	0.16972	.	.	.	.	.	T	0.10594	0.0259	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.33471	-0.9867	9	0.87932	D	0	.	3.1167	0.06377	0.153:0.0:0.5868:0.2602	.	2815	E7EUV1	.	E	2815	ENSP00000415183:G2815E	ENSP00000415183:G2815E	G	+	2	0	MUC2	1094253	0.029000	0.19370	0.000000	0.03702	0.009000	0.06853	2.405000	0.44548	0.131000	0.18576	0.491000	0.48974	GGG		0.692	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1104253	G	A	1104253	3	1	118	1	0	0	0	0	1	0	0	0	9977	1232	43	2	8630	2	MUC2	11	1104253	Missense_Mutation	SNP	G	TCGA-AL-3473-01A-01D-1252-08		1104253	133902263	17	7240											
KRTAP5-5	439915	hgsc.bcm.edu	37	11	1651483	1651483	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:1651483G>C	ENST00000399676.2	+	1	451	c.413G>C	c.(412-414)gGc>gCc	p.G138A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	138	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G138A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAAGGGGGGCTGTGGCTCC	0.692																																																1	Substitution - Missense(1)	lung(1)											13	19	17					11																	1651483		2129	4198	6327	SO:0001583	missense	439915			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.413G>C	chr11.hg19:g.1651483G>C	ENSP00000382584:p.Gly138Ala		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	hg19	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.606108	0.00121	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01203	5.18	3.03	2.11	0.27256	.	.	.	.	.	T	0.01695	0.0054	M	0.82823	2.61	0.22601	N	0.998945	B	0.25667	0.131	B	0.19666	0.026	T	0.52366	-0.8585	9	0.02654	T	1	.	6.1318	0.20209	0.1478:0.0:0.8522:0.0	.	138	Q701N2	KRA55_HUMAN	A	138;109	ENSP00000382584:G138A	ENSP00000382584:G138A	G	+	2	0	KRTAP5-5	1608059	1.000000	0.71417	0.411000	0.26484	0.028000	0.11728	2.598000	0.46223	0.497000	0.27926	-0.360000	0.07572	GGC		0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			C	1651483	G	C	1651483	3	2	118	1	0	0	0	0	1	0	0	0	8566	1203	42	4	415	4	KRTAP5-5	11	1651483	Missense_Mutation	SNP	G	TCGA-AL-3473-01A-01D-1252-08	547230	1651483	133355033	18	7241											
MRGPRX3	117195	hgsc.bcm.edu	37	11	18159638	18159638	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:18159638G>A	ENST00000396275.2	+	3	1250	c.889G>A	c.(889-891)Gac>Aac	p.D297N		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGCTCTGCAGGACACGCCTGA	0.557																																																0													45	48	47					11																	18159638		2200	4292	6492	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.889G>A	chr11.hg19:g.18159638G>A	ENSP00000379571:p.Asp297Asn		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	hg19	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428032	0.62844	.	.	ENSG00000179826	ENST00000396275	T	0.25912	1.77	1.3	1.3	0.21679	.	0.429218	0.22048	N	0.065351	T	0.47469	0.1447	M	0.84433	2.695	0.24902	N	0.9921	D	0.89917	1.0	D	0.76575	0.988	T	0.18461	-1.0336	10	0.87932	D	0	.	5.9358	0.19165	0.0:0.0:1.0:0.0	.	297	Q96LB0	MRGX3_HUMAN	N	297	ENSP00000379571:D297N	ENSP00000379571:D297N	D	+	1	0	MRGPRX3	18116214	0.485000	0.25972	0.781000	0.31783	0.068000	0.16541	1.158000	0.31737	1.011000	0.39340	0.195000	0.17529	GAC		0.557	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		A	18159638	G	A	18159638	3	1	118	1	0	0	0	0	1	0	0	0	9770	1174	41	2	891	2	MRGPRX3	11	18159638	Missense_Mutation	SNP	G	TCGA-AL-3473-01A-01D-1252-08	16508155	18159638	116846878	19	7242											
SNX15	29907	hgsc.bcm.edu	37	11	64802325	64802325	+	Missense_Mutation	SNP	T	T	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:64802325T>G	ENST00000377244.3	+	4	393	c.263T>G	c.(262-264)tTt>tGt	p.F88C	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Missense_Mutation_p.F88C	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	88	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GTAGGCCGGTTTGAAGCCTCA	0.622																																					Esophageal Squamous(56;269 1304 3324 8253)											0													55	54	54					11																	64802325		2201	4297	6498	SO:0001583	missense	29907			AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"Sorting nexins"	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.263T>G	chr11.hg19:g.64802325T>G	ENSP00000366452:p.Phe88Cys		E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	hg19	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	T	9.953	1.220623	0.22457	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.24	5.24	0.73138	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	M	0.94142	3.5	0.80722	D	1	B;B;D	0.89917	0.002;0.032;1.0	B;B;D	0.91635	0.004;0.031;0.999	T	0.81028	-0.1118	10	0.87932	D	0	-11.7965	13.084	0.59129	0.0:0.0:0.0:1.0	.	88;88;88	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	C	88;84;76;88	ENSP00000366452:F88C;ENSP00000437277:F84C;ENSP00000431690:F76C;ENSP00000316410:F88C	ENSP00000316410:F88C	F	+	2	0	SNX15	64558901	1.000000	0.71417	0.793000	0.32043	0.045000	0.14185	7.364000	0.79526	1.991000	0.58162	0.374000	0.22700	TTT		0.622	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			G	64802325	T	G	64802325	3	3	118	1	0	0	0	0	1	0	0	0	14892	1841	64	5	277	5	SNX15	11	64802325	Missense_Mutation	SNP	T	TCGA-AL-3473-01A-01D-1252-08	46642687	64802325	70204191	20	7243											
BIRC3	330	hgsc.bcm.edu	37	11	102206814	102206814	+	Missense_Mutation	SNP	T	T	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:102206814T>G	ENST00000263464.3	+	7	4192	c.1442T>G	c.(1441-1443)gTt>gGt	p.V481G	BIRC3_ENST00000532808.1_Missense_Mutation_p.V481G	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	481	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GAACATGATGTTATTAAACAG	0.353			T	MALT1	MALT																																		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													104	107	106					11																	102206814		2203	4298	6501	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1442T>G	chr11.hg19:g.102206814T>G	ENSP00000263464:p.Val481Gly		Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	hg19	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	T	9.986	1.229473	0.22542	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.19532	2.14;2.14	4.98	1.35	0.21983	DEATH-like (2);Caspase Recruitment (3);	0.559991	0.21816	N	0.068695	T	0.16981	0.0408	L	0.58669	1.825	0.31062	N	0.71399	B	0.10296	0.003	B	0.15484	0.013	T	0.12915	-1.0529	10	0.27785	T	0.31	.	4.8847	0.13697	0.0:0.231:0.1477:0.6212	.	481	Q13489	BIRC3_HUMAN	G	481;481;249	ENSP00000263464:V481G;ENSP00000432907:V481G	ENSP00000263464:V481G	V	+	2	0	BIRC3	101712024	0.052000	0.20516	0.281000	0.24762	0.902000	0.53008	0.187000	0.16998	0.130000	0.18549	-0.316000	0.08728	GTT		0.353	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		G	102206814	T	G	102206814	3	3	118	1	0	0	0	0	1	0	0	0	1436	1725	60	5	1464	5	BIRC3	11	102206814	Missense_Mutation	SNP	T	TCGA-AL-3473-01A-01D-1252-08	37404489	102206814	32799702	21	7244											
OR8G1	219865	hgsc.bcm.edu	37	11	124135727	124135727	+	Silent	SNP	C	C	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:124135727C>T	ENST00000524943.2	+	1	1005	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	335						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		TCCACGTTGCCCTGAAGAAAA	0.403																																					Ovarian(169;523 1969 8640 31295 51256)											0													54	52	53					11																	124135727		2018	4203	6221	SO:0001819	synonymous_variant	219865			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.1005C>T	chr11.hg19:g.124135727C>T			B2RND3|Q6IEU6	Silent	SNP	ENST00000524943.2	hg19																																																																																					0.403	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198		T	124135727	C	T	124135727	2	4	118	1	0	0	0	0	0	0	0	1	11236	610	22	2		2	OR8G1	11	124135727	Silent	SNP	C	TCGA-AL-3473-01A-01D-1252-08	21928913	124135727	10870789	22	7245											
PKNOX2	63876	hgsc.bcm.edu	37	11	125280693	125280693	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:125280693C>T	ENST00000298282.9	+	9	1008	c.737C>T	c.(736-738)cCg>cTg	p.P246L	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.P182L	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	246					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TTATACCAACCGGTTACCATG	0.577																																																0													94	91	92					11																	125280693		1947	4142	6089	SO:0001583	missense	63876			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.737C>T	chr11.hg19:g.125280693C>T	ENSP00000298282:p.Pro246Leu		B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	hg19	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066060	0.76187	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93324	0.7872	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.93357	0.6723	10	0.59425	D	0.04	-12.9127	19.0405	0.92997	0.0:1.0:0.0:0.0	.	182;246	F5GZ15;Q96KN3	.;PKNX2_HUMAN	L	217;217;246;182;234	ENSP00000434732:P217L;ENSP00000433971:P217L;ENSP00000298282:P246L;ENSP00000441470:P182L	ENSP00000298282:P246L	P	+	2	0	PKNOX2	124785903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.191000	0.77763	2.586000	0.87340	0.655000	0.94253	CCG		0.577	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			T	125280693	C	T	125280693	3	4	118	1	0	0	0	0	1	0	0	0	11985	652	23	1	759	1	PKNOX2	11	125280693	Missense_Mutation	SNP	C	TCGA-AL-3473-01A-01D-1252-08	1144966	125280693	9725823	23	7246											
WNK1	65125	hgsc.bcm.edu	37	12	978188	978188	+	Intron	SNP	T	T	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:978188T>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.F1184Y|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.F1099Y|WNK1_ENST00000574564.1_Missense_Mutation_p.F398Y	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCCCACTTTTCTTCTGTTTC	0.493																																					Colon(19;451 567 6672 12618 28860)											0													323	310	314					12																	978188		1914	4143	6057	SO:0001627	intron_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2243T>A	chr12.hg19:g.978188T>A			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	hg19	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.440816	0.43326	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.16743	2.32;2.32	5.85	5.85	0.93711	.	.	.	.	.	T	0.23133	0.0559	.	.	.	0.80722	D	1	P	0.46656	0.882	B	0.44278	0.445	T	0.00842	-1.1544	8	0.52906	T	0.07	.	14.8154	0.70031	0.0:0.0:0.0:1.0	.	1184	F5H2M7	.	Y	1099;1184	ENSP00000444465:F1099Y;ENSP00000433548:F1184Y	ENSP00000433548:F1184Y	F	+	2	0	WNK1	848449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.421000	0.52742	2.233000	0.73108	0.455000	0.32223	TTC		0.493	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		A	978188	T	A	978188	1	1	118	0	1	0	0	0	0	0	0	0	17382	1783	62	5		5	WNK1	12	978188	Intron	SNP	T	TCGA-AL-3473-01A-01D-1252-08		978188	132873707	24	7247											
CD27	939	hgsc.bcm.edu	37	12	6554287	6554287	+	Missense_Mutation	SNP	T	T	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:6554287T>A	ENST00000266557.3	+	1	255	c.26T>A	c.(25-27)cTg>cAg	p.L9Q	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	9					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CCCTGGTGGCTGTGCGTTCTG	0.642																																																0													18	24	22					12																	6554287		2202	4299	6501	SO:0001583	missense	939			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"Tumor necrosis factor receptor superfamily", "CD molecules"	11922	protein-coding gene	gene with protein product		186711	"tumor necrosis factor receptor superfamily, member 7"	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.26T>A	chr12.hg19:g.6554287T>A	ENSP00000266557:p.Leu9Gln		B2RDZ0	Missense_Mutation	SNP	ENST00000266557.3	hg19	CCDS8545.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473069	0.63737	.	.	ENSG00000139193	ENST00000266557	D	0.95788	-3.81	4.91	4.91	0.64330	.	0.254840	0.25922	N	0.027424	D	0.95726	0.8610	L	0.36672	1.1	0.41219	D	0.986497	D	0.89917	1.0	D	0.85130	0.997	D	0.95798	0.8830	10	0.72032	D	0.01	-12.3828	10.8657	0.46853	0.0:0.0:0.0:1.0	.	9	P26842	CD27_HUMAN	Q	9	ENSP00000266557:L9Q	ENSP00000266557:L9Q	L	+	2	0	CD27	6424548	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	3.432000	0.52824	2.064000	0.61679	0.455000	0.32223	CTG		0.642	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1			A	6554287	T	A	6554287	3	1	118	1	0	0	0	0	1	0	0	0	2992	1580	55	5	28	5	CD27	12	6554287	Missense_Mutation	SNP	T	TCGA-AL-3473-01A-01D-1252-08	5576099	6554287	127297608	25	7248											
SOX5	6660	hgsc.bcm.edu	37	12	24102509	24102509	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:24102509C>G	ENST00000451604.2	-	1	128	c.27G>C	c.(25-27)caG>caC	p.Q9H	SOX5_ENST00000541847.1_Intron|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000381381.2_5'UTR|SOX5_ENST00000441133.2_Missense_Mutation_p.Q9H|SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000537393.1_Missense_Mutation_p.Q9H			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	9					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTTCAAACTCCTGAGGTAAAT	0.433																																																0													112	102	106					12																	24102509		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.27G>C	chr12.hg19:g.24102509C>G	ENSP00000398273:p.Gln9His		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	hg19	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	c	15.91	2.971147	0.53614	.	.	ENSG00000134532	ENST00000451604;ENST00000537393;ENST00000441133	D;D	0.97378	-4.34;-4.36	5.28	5.28	0.74379	.	0.154071	0.45126	D	0.000386	D	0.96222	0.8768	L	0.54323	1.7	0.80722	D	1	P;P	0.44309	0.832;0.826	P;B	0.44990	0.466;0.276	D	0.96291	0.9214	10	0.52906	T	0.07	.	17.0691	0.86568	0.0:1.0:0.0:0.0	.	9;9	G3V0H1;P35711	.;SOX5_HUMAN	H	9	ENSP00000398273:Q9H;ENSP00000439832:Q9H	ENSP00000393240:Q9H	Q	-	3	2	SOX5	23993776	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.509000	0.73725	2.631000	0.89168	0.645000	0.84053	CAG		0.433	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		G	24102509	C	G	24102509	3	3	118	1	0	0	0	0	1	0	0	0	14960	680	24	4	2334	4	SOX5	12	24102509	Missense_Mutation	SNP	C	TCGA-AL-3473-01A-01D-1252-08	17548222	24102509	109749386	26	7249											
SRGAP1	57522	hgsc.bcm.edu	37	12	64377805	64377805	+	Missense_Mutation	SNP	T	T	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:64377805T>A	ENST00000355086.3	+	2	670	c.146T>A	c.(145-147)cTg>cAg	p.L49Q	SRGAP1_ENST00000357825.3_Missense_Mutation_p.L49Q|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L9Q	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	49	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTCCAGGATCTGCAAGATTTC	0.428																																																0													110	114	113					12																	64377805		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.146T>A	chr12.hg19:g.64377805T>A	ENSP00000347198:p.Leu49Gln		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	hg19	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690212	0.88735	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.56611	0.45;0.45;1.94	5.1	5.1	0.69264	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.28600	U	0.014776	T	0.74261	0.3693	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.987;0.987	T	0.77648	-0.2509	9	.	.	.	.	15.199	0.73120	0.0:0.0:0.0:1.0	.	49;9;49	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	Q	49;49;9	ENSP00000347198:L49Q;ENSP00000350480:L49Q;ENSP00000437948:L9Q	.	L	+	2	0	SRGAP1	62664072	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	7.975000	0.88055	2.060000	0.61445	0.477000	0.44152	CTG		0.428	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			A	64377805	T	A	64377805	3	1	118	1	0	0	0	0	1	0	0	0	15150	1580	55	5	152	5	SRGAP1	12	64377805	Missense_Mutation	SNP	T	TCGA-AL-3473-01A-01D-1252-08	40275296	64377805	69474090	27	7250											
METT11D1	64745	hgsc.bcm.edu	37	14	21464719	21464719	+	Missense_Mutation	SNP	G	G	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr14:21464719G>T	ENST00000339374.6	+	13	1347	c.1114G>T	c.(1114-1116)Gtg>Ttg	p.V372L	RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.V372L|SLC39A2_ENST00000298681.4_5'Flank|METTL17_ENST00000382985.4_Missense_Mutation_p.V372L|SLC39A2_ENST00000554422.1_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	372					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GTTCTCTATGGTGATCCTTGC	0.463																																																0													53	50	51					14																	21464719		2203	4300	6503	SO:0001583	missense	64745			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1114G>T	chr14.hg19:g.21464719G>T	ENSP00000343041:p.Val372Leu		Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	hg19	CCDS9562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.25|13.25	2.180366|2.180366	0.38511|0.38511	.|.	.|.	ENSG00000165792|ENSG00000165792	ENST00000556733|ENST00000339374;ENST00000382985	.|T;T	.|0.35789	.|1.33;1.29	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.222302	.|0.37577	.|N	.|0.002038	T|T	0.20941|0.20941	0.0504|0.0504	N|N	0.17838|0.17838	0.53|0.53	0.34359|0.34359	D|D	0.690735|0.690735	.|B;B;B	.|0.12630	.|0.006;0.003;0.002	.|B;B;B	.|0.10450	.|0.005;0.005;0.003	T|T	0.24154|0.24154	-1.0168|-1.0168	5|10	.|0.12766	.|T	.|0.61	.|.	9.6516|9.6516	0.39902|0.39902	0.0949:0.0:0.9051:0.0|0.0949:0.0:0.9051:0.0	.|.	.|372;372;372	.|Q9H7H0-3;Q9H7H0;Q9H7H0-2	.|.;MET17_HUMAN;.	V|L	47|372	.|ENSP00000343041:V372L;ENSP00000372445:V372L	.|ENSP00000343041:V372L	G|V	+|+	2|1	0|0	METTL17|METTL17	20534559|20534559	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.906000|0.906000	0.53458|0.53458	1.316000|1.316000	0.33620|0.33620	2.392000|2.392000	0.81423|0.81423	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.463	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		T	21464719	G	T	21464719	3	4	118	1	0	0	0	0	1	0	0	0	9493	1261	44	4	1164	4	METT11D1	14	21464719	Missense_Mutation	SNP	G	TCGA-AL-3473-01A-01D-1252-08		21464719	85884821	28	7251											
NID2	22795	hgsc.bcm.edu	37	14	52485956	52485956	+	Missense_Mutation	SNP	A	A	C			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr14:52485956A>C	ENST00000216286.5	-	14	2850	c.2851T>G	c.(2851-2853)Tat>Gat	p.Y951D	NID2_ENST00000541773.1_Missense_Mutation_p.Y850D	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	951	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTAGGCATACTGGGCCTGG	0.577																																																0													52	46	48					14																	52485956		2203	4300	6503	SO:0001583	missense	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2851T>G	chr14.hg19:g.52485956A>C	ENSP00000216286:p.Tyr951Asp		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	hg19	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.654|9.654	1.142329|1.142329	0.21205|0.21205	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	.|T;T	.|0.61742	.|0.08;0.08	5.32|5.32	0.0082|0.0082	0.14073|0.14073	.|Thyroglobulin type-1 (4);	.|1.030560	.|0.07634	.|N	.|0.929216	T|T	0.40473|0.40473	0.1118|0.1118	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.27997	.|0.0;0.021;0.197;0.117	.|B;B;B;B	.|0.29862	.|0.002;0.023;0.108;0.009	T|T	0.30387|0.30387	-0.9980|-0.9980	5|10	.|0.33940	.|T	.|0.23	.|.	5.3979|5.3979	0.16278|0.16278	0.0652:0.2279:0.4723:0.2346|0.0652:0.2279:0.4723:0.2346	.|.	.|545;850;953;951	.|E7EPP3;Q14112-2;Q5CZI2;Q14112	.|.;.;.;NID2_HUMAN	G|D	219|951;545;850;953	.|ENSP00000216286:Y951D;ENSP00000443730:Y850D	.|ENSP00000216286:Y951D	V|Y	-|-	2|1	0|0	NID2|NID2	51555706|51555706	0.419000|0.419000	0.25449|0.25449	0.019000|0.019000	0.16419|0.16419	0.026000|0.026000	0.11368|0.11368	1.277000|1.277000	0.33167|0.33167	-0.092000|-0.092000	0.12417|0.12417	-0.242000|-0.242000	0.12053|0.12053	GTA|TAT		0.577	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			C	52485956	A	C	52485956	3	2	118	1	0	0	0	0	1	0	0	0	10417	391	14	5	1312	5	NID2	14	52485956	Missense_Mutation	SNP	A	TCGA-AL-3473-01A-01D-1252-08	31021237	52485956	54863584	29	7252											
C15orf23	90417	hgsc.bcm.edu	37	15	40685795	40685795	+	Missense_Mutation	SNP	G	G	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr15:40685795G>T	ENST00000249776.8	+	9	1063	c.948G>T	c.(946-948)atG>atT	p.M316I	KNSTRN_ENST00000416151.2_3'UTR|KNSTRN_ENST00000448395.2_3'UTR|KNSTRN_ENST00000608100.1_Missense_Mutation_p.M238I	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		TATTAGAAATGTAAGAAGaag	0.423																																																0													83	76	78					15																	40685795		1885	4111	5996	SO:0001583	missense	90417			AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"small kinetochore-associated protein", "kinetochore-localized astrin-binding protein", "TRAF4 associated factor 1"	614718	"chromosome 15 open reading frame 23"	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.948G>T	chr15.hg19:g.40685795G>T	ENSP00000249776:p.Met316Ile			Missense_Mutation	SNP	ENST00000249776.8	hg19	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074155	0.36566	.	.	ENSG00000128944	ENST00000249776	T	0.27720	1.65	5.02	3.02	0.34903	.	0.171826	0.41938	D	0.000798	T	0.16128	0.0388	N	0.14661	0.345	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.06267	-1.0836	10	0.62326	D	0.03	-5.1946	5.8118	0.18469	0.0965:0.0:0.7133:0.1903	.	316	Q9Y448	T4AF1_HUMAN	I	316	ENSP00000249776:M316I	ENSP00000249776:M316I	M	+	3	0	C15orf23	38473087	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	1.826000	0.39092	1.491000	0.48482	0.650000	0.86243	ATG		0.423	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		T	40685795	G	T	40685795	3	4	118	1	0	0	0	0	1	0	0	0	1787	1377	48	4	1025	4	C15orf23	15	40685795	Missense_Mutation	SNP	G	TCGA-AL-3473-01A-01D-1252-08		40685795	61845597	30	7253											
RAB27A	5873	hgsc.bcm.edu	37	15	55516128	55516128	+	Silent	SNP	T	T	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr15:55516128T>A	ENST00000396307.2	-	5	677	c.426A>T	c.(424-426)gtA>gtT	p.V142V	RAB27A_ENST00000569493.1_Silent_p.V142V|RAB27A_ENST00000336787.1_Silent_p.V142V|RAB27A_ENST00000564609.1_Silent_p.V142V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	142					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCTCTTTCACTACTCTCTGGT	0.398																																																0													167	168	167					15																	55516128		2193	4292	6485	SO:0001819	synonymous_variant	5873			U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"RAB, member RAS oncogene"	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.426A>T	chr15.hg19:g.55516128T>A			O00195|Q6FI40|Q9UIR9|Q9Y5U3	Silent	SNP	ENST00000396307.2	hg19	CCDS10153.1																																																																																				0.398	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		A	55516128	T	A	55516128	2	1	118	1	0	0	0	0	0	0	0	1	12920	1509	53	5		5	RAB27A	15	55516128	Silent	SNP	T	TCGA-AL-3473-01A-01D-1252-08	14830333	55516128	47015264	31	7254											
TMC7	79905	hgsc.bcm.edu	37	16	19073098	19073098	+	Splice_Site	SNP	A	A	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr16:19073098A>T	ENST00000304381.5	+	16	2236		c.e16-1		RP11-626G11.5_ENST00000568971.1_RNA|RP11-626G11.5_ENST00000571934.1_RNA|TMC7_ENST00000421369.3_Splice_Site|RP11-626G11.5_ENST00000567047.1_RNA|RP11-626G11.5_ENST00000576433.1_RNA	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7						ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATTATTTTTTAGGAAAGTCGT	0.403																																																0													87	80	82					16																	19073098		2197	4300	6497	SO:0001630	splice_region_variant	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2107-1A>T	chr16.hg19:g.19073098A>T			E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Splice_Site	SNP	ENST00000304381.5	hg19	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.586609	0.46110	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2868	0.60247	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMC7	18980599	1.000000	0.71417	0.916000	0.36221	0.545000	0.35147	6.318000	0.72866	2.012000	0.59069	0.533000	0.62120	.		0.403	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847	Intron	T	19073098	A	T	19073098	5	4	118	1	0	0	0	0	0	0	1	0	15995	434	15	5	2167	5	TMC7	16	19073098	Splice_Site	SNP	A	TCGA-AL-3473-01A-01D-1252-08		19073098	71281655	32	7255											
DNAH3	55567	hgsc.bcm.edu	37	16	21080893	21080893	+	Missense_Mutation	SNP	C	C	T	rs577456196		TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr16:21080893C>T	ENST00000261383.3	-	23	3223	c.3224G>A	c.(3223-3225)cGc>cAc	p.R1075H	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1075H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1075	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R1075P(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTCTTGTATGCGAATTAGCTT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19175	0.001		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	lung(2)											173	130	144					16																	21080893		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3224G>A	chr16.hg19:g.21080893C>T	ENSP00000261383:p.Arg1075His		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410395	0.25465	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61859	0.07;0.07	5.4	4.22	0.49857	Dynein heavy chain, domain-2 (1);	0.726956	0.12981	N	0.423277	T	0.44519	0.1297	L	0.28192	0.835	0.09310	N	1	D	0.65815	0.995	P	0.49332	0.607	T	0.36625	-0.9740	10	0.26408	T	0.33	.	2.0715	0.03614	0.3159:0.4174:0.1475:0.1193	.	1075	Q8TD57	DYH3_HUMAN	H	1075	ENSP00000261383:R1075H;ENSP00000394245:R1075H	ENSP00000261383:R1075H	R	-	2	0	DNAH3	20988394	0.001000	0.12720	0.952000	0.39060	0.634000	0.38068	0.318000	0.19504	2.696000	0.92011	0.655000	0.94253	CGC		0.453	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21080893	C	T	21080893	3	4	118	1	0	0	0	0	1	0	0	0	4605	768	27	1	9285	1	DNAH3	16	21080893	Missense_Mutation	SNP	C	TCGA-AL-3473-01A-01D-1252-08	2007795	21080893	69273860	33	7256											
TMEM107	84314	hgsc.bcm.edu	37	17	8079579	8079579	+	Missense_Mutation	SNP	G	G	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr17:8079579G>T	ENST00000437139.2	-	1	113	c.26C>A	c.(25-27)cCc>cAc	p.P9H	TMEM107_ENST00000449985.2_Missense_Mutation_p.P9H|RP11-599B13.7_ENST00000581248.1_lincRNA|TMEM107_ENST00000431792.2_Missense_Mutation_p.P9H|TMEM107_ENST00000532998.1_Missense_Mutation_p.P9H|SNORD118_ENST00000363593.1_RNA|TMEM107_ENST00000316425.5_Missense_Mutation_p.P9H|TMEM107_ENST00000533070.1_Missense_Mutation_p.P9H	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	9					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(1)	6						GAAGCGAGAGGGCACAAGCCC	0.632																																																0													58	48	51					17																	8079579		2203	4300	6503	SO:0001583	missense	84314			AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.26C>A	chr17.hg19:g.8079579G>T	ENSP00000402732:p.Pro9His		A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Missense_Mutation	SNP	ENST00000437139.2	hg19	CCDS45607.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431906	0.62844	.	.	ENSG00000179029	ENST00000449985;ENST00000532998;ENST00000437139;ENST00000533070;ENST00000316425;ENST00000431792;ENST00000415860	.	.	.	5.6	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.77465	0.4134	M	0.79475	2.455	0.49915	D	0.999835	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.982	T	0.79948	-0.1588	9	0.87932	D	0	-37.9001	10.8172	0.46583	0.0877:0.0:0.9123:0.0	.	9;9;9;9	B3KNL7;Q6UX40-3;Q6UX40-4;Q6UX40	.;.;.;TM107_HUMAN	H	9	.	ENSP00000314116:P9H	P	-	2	0	TMEM107	8020304	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	8.301000	0.89951	1.511000	0.48818	-0.158000	0.13435	CCC		0.632	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388844.1	NM_032354		T	8079579	G	T	8079579	3	4	118	1	0	0	0	0	1	0	0	0	16028	1232	43	4	434	4	TMEM107	17	8079579	Missense_Mutation	SNP	G	TCGA-AL-3473-01A-01D-1252-08		8079579	73115631	34	7257											
TMEM106A	113277	hgsc.bcm.edu	37	17	41365849	41365849	+	Silent	SNP	C	C	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr17:41365849C>T	ENST00000331615.3	+	4	451	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	TMEM106A_ENST00000541594.1_Silent_p.L24L|TMEM106A_ENST00000588659.1_Silent_p.L72L|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000536052.1_Silent_p.L72L	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	72						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)		CTCTCTAGAGCTGGAGAAGCA	0.552																																																0													97	74	82					17																	41365849		2203	4296	6499	SO:0001819	synonymous_variant	113277			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.214C>T	chr17.hg19:g.41365849C>T			A8K2X2|B7Z698	Silent	SNP	ENST00000331615.3	hg19	CCDS11462.1																																																																																				0.552	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041		T	41365849	C	T	41365849	2	4	118	1	0	0	0	0	0	0	0	1	16025	796	28	2		2	TMEM106A	17	41365849	Silent	SNP	C	TCGA-AL-3473-01A-01D-1252-08	33286270	41365849	39829361	35	7258											
PHB	5245	hgsc.bcm.edu	37	17	47486482	47486483	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr17:47486482_47486483delCT	ENST00000300408.3	-	5	503_504	c.431_432delAG	c.(430-432)gagfs	p.E144fs	PHB_ENST00000511832.1_Intron|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000508009.1_5'UTR	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	144					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			TGGAGACCAGCTCTCTCTGGGT	0.554																																																0																																										SO:0001589	frameshift_variant	5245				CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.431_432delAG	chr17.hg19:g.47486488_47486489delCT	ENSP00000300408:p.Glu144fs		B4DY47|Q4VBQ0	Frame_Shift_Del	DEL	ENST00000300408.3	hg19	CCDS11548.1																																																																																				0.554	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		-	47486483	CT	-	47486482	7	5	118	1	0	1	0	1	0	0	0	0	11816	796	28	0	398	0	PHB	17	47486482	Frame_Shift_Del	DEL	CT	TCGA-AL-3473-01A-01D-1252-08	6120633	47486482	33708728	36	7259											
ME2	4200	hgsc.bcm.edu	37	18	48442562	48442562	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr18:48442562C>G	ENST00000321341.5	+	5	689	c.417C>G	c.(415-417)gaC>gaG	p.D139E	ME2_ENST00000382927.3_Missense_Mutation_p.D139E	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	139					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CGATCTCAGACAGAGGTCATG	0.333																																																0													186	177	180					18																	48442562		2203	4300	6503	SO:0001583	missense	4200			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.417C>G	chr18.hg19:g.48442562C>G	ENSP00000321070:p.Asp139Glu		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	hg19	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129308	0.77549	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.45668	0.89;0.89	5.8	5.8	0.92144	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.77712	2.385	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61950	-0.6957	10	0.36615	T	0.2	-22.0057	12.879	0.58006	0.0:0.9218:0.0:0.0782	.	139;139	Q9BWL6;P23368	.;MAOM_HUMAN	E	139	ENSP00000321070:D139E;ENSP00000372384:D139E	ENSP00000321070:D139E	D	+	3	2	ME2	46696560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.392000	0.52537	2.741000	0.93983	0.650000	0.86243	GAC		0.333	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		G	48442562	C	G	48442562	3	3	118	1	0	0	0	0	1	0	0	0	9420	477	17	4	431	4	ME2	18	48442562	Missense_Mutation	SNP	C	TCGA-AL-3473-01A-01D-1252-08		48442562	29634686	37	7260											
SLC25A42	284439	hgsc.bcm.edu	37	19	19221630	19221630	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr19:19221630delT	ENST00000318596.7	+	8	1053	c.902delT	c.(901-903)atcfs	p.I301fs		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	301					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GCCGTGGGCATCAGCTTCACC	0.657																																																0													68	52	57					19																	19221630		2203	4300	6503	SO:0001589	frameshift_variant	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.902delT	chr19.hg19:g.19221630delT	ENSP00000326693:p.Ile301fs		D2T2J5|O14553|O43378	Frame_Shift_Del	DEL	ENST00000318596.7	hg19	CCDS32966.1																																																																																				0.657	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		-	19221630	T	-	19221630	7	5	118	1	0	1	0	1	0	0	0	0	14513	1435	50	0	928	0	SLC25A42	19	19221630	Frame_Shift_Del	DEL	T	TCGA-AL-3473-01A-01D-1252-08		19221630	39907353	38	7261											
APLP1	333	hgsc.bcm.edu	37	19	36362560	36362560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr19:36362560T>A	ENST00000221891.4	+	5	776	c.584T>A	c.(583-585)tTa>tAa	p.L195*	APLP1_ENST00000537454.2_Nonsense_Mutation_p.L156*|APLP1_ENST00000586861.1_Nonsense_Mutation_p.L189*|NPHS1_ENST00000591817.1_5'Flank	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	195					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCATGCTCTTACCCTGTGGC	0.642																																																0													111	105	107					19																	36362560		2203	4300	6503	SO:0001587	stop_gained	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.584T>A	chr19.hg19:g.36362560T>A	ENSP00000221891:p.Leu195*		O00113|Q96A92	Nonsense_Mutation	SNP	ENST00000221891.4	hg19	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	T	36	5.888940	0.97068	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	.	.	.	4.41	4.41	0.53225	.	0.000000	0.33515	N	0.004832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3771	11.5688	0.50822	0.0:0.0:0.0:1.0	.	.	.	.	X	156;195	.	ENSP00000221891:L195X	L	+	2	0	APLP1	41054400	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.189000	0.77747	1.630000	0.50440	0.379000	0.24179	TTA		0.642	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		A	36362560	T	A	36362560	4	1	118	1	0	0	0	0	0	1	0	0	778	1764	61	5	602	5	APLP1	19	36362560	Nonsense_Mutation	SNP	T	TCGA-AL-3473-01A-01D-1252-08	17140930	36362560	22766423	39	7262											
ZNF585B	92285	hgsc.bcm.edu	37	19	37678072	37678072	+	Missense_Mutation	SNP	T	T	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr19:37678072T>A	ENST00000532828.2	-	5	618	c.367A>T	c.(367-369)Att>Ttt	p.I123F	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'Flank|ZNF585B_ENST00000531805.1_Missense_Mutation_p.I68F|ZNF585B_ENST00000527838.1_Missense_Mutation_p.I123F	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGAATAAATTTTTTGATCT	0.373																																					Melanoma(93;882 1454 18863 28917 48427)											0													59	64	62					19																	37678072		2202	4299	6501	SO:0001583	missense	92285			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.367A>T	chr19.hg19:g.37678072T>A	ENSP00000433773:p.Ile123Phe		Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	hg19	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	4.132	0.022795	0.08006	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000527838	T;T;T	0.08634	3.07;3.15;6.5	2.32	2.32	0.28847	.	0.230506	0.22120	U	0.064354	T	0.10551	0.0258	M	0.65498	2.005	0.80722	D	1	B	0.22909	0.077	B	0.20184	0.028	T	0.06427	-1.0827	10	0.72032	D	0.01	.	9.2461	0.37527	0.0:0.0:0.0:1.0	.	123	Q52M93	Z585B_HUMAN	F	68;123;123	ENSP00000436774:I68F;ENSP00000433773:I123F;ENSP00000435268:I123F	ENSP00000435268:I123F	I	-	1	0	ZNF585B	42369912	0.614000	0.27017	0.755000	0.31263	0.021000	0.10359	0.914000	0.28624	1.052000	0.40392	0.374000	0.22700	ATT		0.373	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		A	37678072	T	A	37678072	3	1	118	1	0	0	0	0	1	0	0	0	18023	1493	52	5	1946	5	ZNF585B	19	37678072	Missense_Mutation	SNP	T	TCGA-AL-3473-01A-01D-1252-08	1315512	37678072	21450911	40	7263											
CSE1L	1434	hgsc.bcm.edu	37	20	47675025	47675025	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr20:47675025C>A	ENST00000262982.2	+	2	148	c.25C>A	c.(25-27)Caa>Aaa	p.Q9K	CSE1L_ENST00000542325.1_5'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.Q9K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	9					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TGCAAATCTGCAAACACTAAC	0.333																																																0													100	109	106					20																	47675025		2203	4300	6503	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.25C>A	chr20.hg19:g.47675025C>A	ENSP00000262982:p.Gln9Lys		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	hg19	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561981	0.45590	.	.	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.68624	-0.34;-0.34	5.3	4.36	0.52297	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	L	0.59436	1.845	0.80722	D	1	B;P	0.36990	0.24;0.577	B;B	0.33042	0.157;0.13	T	0.55431	-0.8142	10	0.10902	T	0.67	-1.2095	14.1142	0.65142	0.0:0.927:0.0:0.073	.	9;9	F8W904;P55060	.;XPO2_HUMAN	K	9	ENSP00000262982:Q9K;ENSP00000379495:Q9K	ENSP00000262982:Q9K	Q	+	1	0	CSE1L	47108432	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.272000	0.78516	1.222000	0.43521	0.591000	0.81541	CAA		0.333	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		A	47675025	C	A	47675025	3	1	118	1	0	0	0	0	1	0	0	0	3932	711	25	4	27	4	CSE1L	20	47675025	Missense_Mutation	SNP	C	TCGA-AL-3473-01A-01D-1252-08		47675025	15350495	41	7264											
ZNF512B	57473	hgsc.bcm.edu	37	20	62598870	62598870	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr20:62598870G>A	ENST00000450537.1	-	3	188	c.128C>T	c.(127-129)cCg>cTg	p.P43L	ZNF512B_ENST00000217130.3_Missense_Mutation_p.P43L|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P43L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACGGACCACCGGCATCCCTGC	0.637																																																0													79	84	82					20																	62598870		2203	4300	6503	SO:0001583	missense	57473			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.128C>T	chr20.hg19:g.62598870G>A	ENSP00000393795:p.Pro43Leu		Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	hg19	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158963	0.78226	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.25414	1.8;1.8;1.8	3.86	3.86	0.44501	.	0.253119	0.27917	N	0.017321	T	0.35508	0.0934	N	0.24115	0.695	0.46586	D	0.999114	D	0.89917	1.0	D	0.81914	0.995	T	0.23583	-1.0184	10	0.87932	D	0	-13.686	13.7319	0.62792	0.0:0.0:1.0:0.0	.	43	Q96KM6	Z512B_HUMAN	L	43	ENSP00000358904:P43L;ENSP00000393795:P43L;ENSP00000217130:P43L	ENSP00000217130:P43L	P	-	2	0	ZNF512B	62069314	0.845000	0.29573	0.989000	0.46669	0.848000	0.48234	1.891000	0.39738	2.444000	0.82710	0.462000	0.41574	CCG		0.637	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		A	62598870	G	A	62598870	3	1	118	1	0	0	0	0	1	0	0	0	17962	1116	39	1	2610	1	ZNF512B	20	62598870	Missense_Mutation	SNP	G	TCGA-AL-3473-01A-01D-1252-08	14923845	62598870	426650	42	7265											
COL4A6	1288	hgsc.bcm.edu	37	X	107433650	107433650	+	Missense_Mutation	SNP	T	T	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chrX:107433650T>G	ENST00000372216.4	-	20	1501	c.1401A>C	c.(1399-1401)aaA>aaC	p.K467N	COL4A6_ENST00000545689.1_Missense_Mutation_p.K466N|COL4A6_ENST00000394872.2_Missense_Mutation_p.K467N|COL4A6_ENST00000334504.7_Missense_Mutation_p.K466N|COL4A6_ENST00000538570.1_Missense_Mutation_p.K466N	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	467	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTAGGTTTCCTTTTGGACCTT	0.443									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											0													130	118	122					X																	107433650		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1401A>C	chrX.hg19:g.107433650T>G	ENSP00000361290:p.Lys467Asn		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	hg19	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915515	0.33815	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.25;-3.38	5.3	2.74	0.32292	.	0.000000	0.45361	D	0.000370	D	0.92506	0.7620	L	0.52206	1.635	0.33503	D	0.590155	D;D;D;D	0.61697	0.982;0.982;0.983;0.99	P;P;P;P	0.59487	0.764;0.764;0.725;0.858	D	0.91531	0.5242	10	0.59425	D	0.04	.	2.7178	0.05192	0.1932:0.2036:0.0:0.6032	.	466;466;467;466	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	N	467;466;467;466;466;466	ENSP00000361290:K467N;ENSP00000334733:K466N;ENSP00000378340:K467N;ENSP00000443707:K466N;ENSP00000445236:K466N	ENSP00000334733:K466N	K	-	3	2	COL4A6	107320306	0.993000	0.37304	0.998000	0.56505	0.987000	0.75469	0.944000	0.29043	0.886000	0.36113	0.486000	0.48141	AAA		0.443	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			G	107433650	T	G	107433650	3	3	118	1	0	0	0	0	1	0	0	0	3697	1606	56	5	3778	5	COL4A6	23	107433650	Missense_Mutation	SNP	T	TCGA-AL-3473-01A-01D-1252-08		107433650	47836910	43	7266											
RERE	473	hgsc.bcm.edu	37	1	8415616	8415616	+	Silent	SNP	G	G	T			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr1:8415616G>T	ENST00000337907.3	-	23	5164	c.4530C>A	c.(4528-4530)ccC>ccA	p.P1510P	RERE_ENST00000400908.2_Silent_p.P1510P|RERE_ENST00000377464.1_Silent_p.P1242P|RERE_ENST00000400907.2_Silent_p.P528P|RERE_ENST00000476556.1_Silent_p.P956P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1510	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTGCTGACATGGGGGGTGGGA	0.642																																																0													16	17	17					1																	8415616		2201	4295	6496	SO:0001819	synonymous_variant	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4530C>A	chr1.hg19:g.8415616G>T			O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	hg19	CCDS95.1																																																																																				0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			T	8415616	G	T	8415616	2	4	119	1	0	0	0	0	0	0	0	1	13237	1335	47	4		4	RERE	1	8415616	Silent	SNP	G	TCGA-AL-7173-01A-11D-2136-08		8415616	240835005	1	7267											
TSPAN2	10100	hgsc.bcm.edu	37	1	115601516	115601516	+	Silent	SNP	G	G	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr1:115601516G>A	ENST00000369516.2	-	5	463	c.432C>T	c.(430-432)acC>acT	p.T144T	TSPAN2_ENST00000369515.2_Silent_p.T119T|TSPAN2_ENST00000491992.1_5'Flank|TSPAN2_ENST00000369514.2_Silent_p.T144T	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	144					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TTGAGTGGAAGGTGATGAGTG	0.398																																																0													256	232	240					1																	115601516		2203	4300	6503	SO:0001819	synonymous_variant	10100			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"Tetraspanins"	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.432C>T	chr1.hg19:g.115601516G>A			D6PTH4|Q5TET2|Q8WU05	Silent	SNP	ENST00000369516.2	hg19	CCDS881.1																																																																																				0.398	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		A	115601516	G	A	115601516	2	1	119	1	0	0	0	0	0	0	0	1	16649	987	35	2		2	TSPAN2	1	115601516	Silent	SNP	G	TCGA-AL-7173-01A-11D-2136-08	107185900	115601516	133649105	2	7268											
RGL1	23179	hgsc.bcm.edu	37	1	183885638	183885638	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr1:183885638G>C	ENST00000360851.3	+	16	1985	c.1807G>C	c.(1807-1809)Ggg>Cgg	p.G603R	RGL1_ENST00000536277.1_Missense_Mutation_p.G601R|RGL1_ENST00000539189.1_Missense_Mutation_p.G574R|RGL1_ENST00000304685.4_Missense_Mutation_p.G638R			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	603	Ser-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AAATTCCTCAGGGATGTCTTC	0.502																																																0													186	182	183					1																	183885638		2203	4300	6503	SO:0001583	missense	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1807G>C	chr1.hg19:g.183885638G>C	ENSP00000354097:p.Gly603Arg		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	hg19		.	.	.	.	.	.	.	.	.	.	G	16.32	3.090748	0.55968	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.50548	0.76;0.76;0.79;0.78;0.74	5.05	5.05	0.67936	.	0.057165	0.64402	D	0.000001	T	0.48502	0.1503	L	0.40543	1.245	0.47245	D	0.999364	D;D;D;D	0.58268	0.982;0.969;0.969;0.969	P;P;B;P	0.51866	0.682;0.585;0.348;0.585	T	0.48670	-0.9015	10	0.54805	T	0.06	.	11.5322	0.50616	0.0831:0.0:0.9169:0.0	.	574;601;603;638	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	R	638;638;601;603;574	ENSP00000303192:G638R;ENSP00000356501:G638R;ENSP00000438662:G601R;ENSP00000354097:G603R;ENSP00000437355:G574R	ENSP00000303192:G638R	G	+	1	0	RGL1	182152261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.475000	0.53136	2.345000	0.79718	0.650000	0.86243	GGG		0.502	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		C	183885638	G	C	183885638	3	2	119	1	0	0	0	0	1	0	0	0	13282	1000	35	4	1974	4	RGL1	1	183885638	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08	68284122	183885638	65364983	3	7269											
TTC15	51112	hgsc.bcm.edu	37	2	3483103	3483103	+	Silent	SNP	G	G	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr2:3483103G>A	ENST00000324266.5	+	12	2274	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	TRAPPC12-AS1_ENST00000453806.1_RNA|TRAPPC12_ENST00000382110.2_Silent_p.V693V	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	693					vesicle-mediated transport (GO:0016192)												ACGAGAGCGTGCTCTTCAACC	0.632																																																0													123	115	118					2																	3483103		2203	4300	6503	SO:0001819	synonymous_variant	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.2079G>A	chr2.hg19:g.3483103G>A			B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	hg19	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	G	9.411	1.080605	0.20309	.	.	ENSG00000171853	ENST00000416918	.	.	.	4.55	-2.5	0.06384	.	.	.	.	.	T	0.50086	0.1595	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44436	-0.9328	4	.	.	.	.	6.1178	0.20136	0.0754:0.4917:0.1948:0.2381	.	.	.	.	T	80	.	.	A	+	1	0	TTC15	3462110	0.943000	0.32029	0.965000	0.40720	0.990000	0.78478	-0.009000	0.12765	-0.267000	0.09325	-0.150000	0.13652	GCT		0.632	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		A	3483103	G	A	3483103	2	1	119	1	0	0	0	0	0	0	0	1	16687	1306	46	2		2	TTC15	2	3483103	Silent	SNP	G	TCGA-AL-7173-01A-11D-2136-08		3483103	239716270	4	7270											
RHOQ	23433	hgsc.bcm.edu	37	2	46803262	46803262	+	Missense_Mutation	SNP	A	A	G	rs557488131		TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr2:46803262A>G	ENST00000238738.4	+	3	557	c.238A>G	c.(238-240)Atg>Gtg	p.M80V	RHOQ_ENST00000465198.1_3'UTR|RP11-417F21.1_ENST00000506009.2_RNA	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	80					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)	p.M80V(1)		skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ATCTTACCCAATGACCGATGT	0.393													A|||	1	0.000199681	0.0	0.0	5008	,	,		18452	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	endometrium(1)											99	89	92					2																	46803262		2203	4300	6503	SO:0001583	missense	23433			M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"RAS-like, family 7, member A", "ras homolog gene family, member Q"	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.238A>G	chr2.hg19:g.46803262A>G	ENSP00000238738:p.Met80Val		D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	hg19	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367334	0.41902	.	.	ENSG00000119729	ENST00000238738;ENST00000482449	T;T	0.76186	-1.0;3.4	5.43	4.26	0.50523	Small GTP-binding protein domain (1);	0.034638	0.85682	D	0.000000	T	0.65637	0.2710	L	0.38175	1.15	0.58432	D	0.99999	B	0.15141	0.012	B	0.12156	0.007	T	0.63202	-0.6690	10	0.87932	D	0	.	12.6767	0.56897	0.862:0.1379:0.0:0.0	.	80	P17081	RHOQ_HUMAN	V	80;1	ENSP00000238738:M80V;ENSP00000428006:M1V	ENSP00000238738:M80V	M	+	1	0	RHOQ	46656766	1.000000	0.71417	0.993000	0.49108	0.882000	0.50991	7.317000	0.79018	1.055000	0.40461	-0.316000	0.08728	ATG		0.393	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		G	46803262	A	G	46803262	3	3	119	1	0	0	0	0	1	0	0	0	13348	101	4	3	248	3	RHOQ	2	46803262	Missense_Mutation	SNP	A	TCGA-AL-7173-01A-11D-2136-08	43320159	46803262	196396111	5	7271											
SESTD1	91404	hgsc.bcm.edu	37	2	180016091	180016091	+	Missense_Mutation	SNP	T	T	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr2:180016091T>A	ENST00000428443.3	-	6	713	c.397A>T	c.(397-399)Act>Tct	p.T133S		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	133	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATATAACGAGTCAATTTGTTG	0.353																																																0													71	70	70					2																	180016091		2203	4300	6503	SO:0001583	missense	91404			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.397A>T	chr2.hg19:g.180016091T>A	ENSP00000415332:p.Thr133Ser		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	hg19	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926704	0.52759	.	.	ENSG00000187231	ENST00000428443;ENST00000440010;ENST00000435047	T;T;T	0.21734	1.99;1.99;1.99	5.68	5.68	0.88126	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	N	0.05383	-0.06	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.26710	-1.0095	9	.	.	.	-17.9645	16.2237	0.82280	0.0:0.0:0.0:1.0	.	133	Q86VW0	SESD1_HUMAN	S	133	ENSP00000415332:T133S;ENSP00000416164:T133S;ENSP00000410286:T133S	.	T	-	1	0	SESTD1	179724336	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.962000	0.87912	2.289000	0.77006	0.482000	0.46254	ACT		0.353	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		A	180016091	T	A	180016091	3	1	119	1	0	0	0	0	1	0	0	0	14133	1667	58	5	1745	5	SESTD1	2	180016091	Missense_Mutation	SNP	T	TCGA-AL-7173-01A-11D-2136-08	133212829	180016091	63183282	6	7272											
CUL3	8452	hgsc.bcm.edu	37	2	225422410	225422410	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr2:225422410A>G	ENST00000264414.4	-	2	568	c.230T>C	c.(229-231)cTa>cCa	p.L77P	CUL3_ENST00000344951.4_Intron|CUL3_ENST00000409096.1_Missense_Mutation_p.L53P|CUL3_ENST00000409777.1_Missense_Mutation_p.L53P|CUL3_ENST00000432260.2_5'UTR	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	77					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AACTTCTCTTAGTCCAGTGTA	0.333																																																0													84	86	85					2																	225422410		2202	4299	6501	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.230T>C	chr2.hg19:g.225422410A>G	ENSP00000264414:p.Leu77Pro		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	hg19	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920164	0.73098	.	.	ENSG00000036257	ENST00000264414;ENST00000409096;ENST00000409777	T;T;T	0.79940	-1.32;-1.32;-1.32	5.61	5.61	0.85477	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.92857	0.7728	H	0.96239	3.79	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	D	0.95014	0.8154	10	0.87932	D	0	.	15.8142	0.78586	1.0:0.0:0.0:0.0	.	55;77	Q53S54;Q13618	.;CUL3_HUMAN	P	77;53;53	ENSP00000264414:L77P;ENSP00000387200:L53P;ENSP00000386525:L53P	ENSP00000264414:L77P	L	-	2	0	CUL3	225130654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.194000	0.94962	2.143000	0.66587	0.533000	0.62120	CTA		0.333	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			G	225422410	A	G	225422410	3	3	119	1	0	0	0	0	1	0	0	0	4058	420	15	3	2136	3	CUL3	2	225422410	Missense_Mutation	SNP	A	TCGA-AL-7173-01A-11D-2136-08	45406319	225422410	17776963	7	7273											
CUL3	8452	hgsc.bcm.edu	37	2	225449722	225449722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr2:225449722G>T	ENST00000264414.4	-	1	343	c.5C>A	c.(4-6)tCg>tAg	p.S2*	CUL3_ENST00000344951.4_Nonsense_Mutation_p.S2*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	2					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCTCAGATTCGACATGGTGCT	0.706																																																0													34	31	32					2																	225449722		2199	4300	6499	SO:0001587	stop_gained	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.5C>A	chr2.hg19:g.225449722G>T	ENSP00000264414:p.Ser2*		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Nonsense_Mutation	SNP	ENST00000264414.4	hg19	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	G	40	8.107774	0.98657	.	.	ENSG00000036257	ENST00000264414;ENST00000344951	.	.	.	3.18	0.952	0.19584	.	0.432093	0.18593	U	0.136664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6371	0.45571	0.0:0.375:0.625:0.0	.	.	.	.	X	2	.	ENSP00000264414:S2X	S	-	2	0	CUL3	225157966	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	2.063000	0.41423	0.257000	0.21650	0.305000	0.20034	TCG		0.706	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			T	225449722	G	T	225449722	4	4	119	1	0	0	0	0	0	1	0	0	4058	1059	37	4	2365	4	CUL3	2	225449722	Nonsense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08	27312	225449722	17749651	8	7274											
CRBN	51185	hgsc.bcm.edu	37	3	3209360	3209360	+	Silent	SNP	T	T	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr3:3209360T>C	ENST00000231948.4	-	5	667	c.645A>G	c.(643-645)agA>agG	p.R215R	CRBN_ENST00000432408.2_Silent_p.R214R	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	215	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	ATTGGTCTTCTCTTGAGACAG	0.363																																																0													134	139	137					3																	3209360		2203	4300	6503	SO:0001819	synonymous_variant	51185			BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"mental retardation, non-syndromic, autosomal recessive, 2A"	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.645A>G	chr3.hg19:g.3209360T>C			B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Silent	SNP	ENST00000231948.4	hg19	CCDS2562.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290994	0.23564	.	.	ENSG00000113851	ENST00000424814;ENST00000450014	.	.	.	5.1	4.22	0.49857	.	.	.	.	.	T	0.57198	0.2037	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52049	-0.8627	4	.	.	.	-0.4216	6.8828	0.24183	0.1419:0.7141:0.0:0.144	.	.	.	.	G	211	.	.	E	-	2	0	CRBN	3184360	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.276000	0.43408	0.666000	0.31087	-0.119000	0.15052	GAG		0.363	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		C	3209360	T	C	3209360	2	2	119	1	0	0	0	0	0	0	0	1	3853	1548	54	3		3	CRBN	3	3209360	Silent	SNP	T	TCGA-AL-7173-01A-11D-2136-08		3209360	194813070	9	7275											
CAPN7	23473	hgsc.bcm.edu	37	3	15288291	15288291	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr3:15288291T>C	ENST00000253693.2	+	18	2316	c.2063T>C	c.(2062-2064)tTa>tCa	p.L688S		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	688	Domain III.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CCATACACCTTATCAAAACGG	0.284																																																0													74	73	73					3																	15288291		2202	4300	6502	SO:0001583	missense	23473			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.2063T>C	chr3.hg19:g.15288291T>C	ENSP00000253693:p.Leu688Ser			Missense_Mutation	SNP	ENST00000253693.2	hg19	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.677192	0.29783	.	.	ENSG00000131375	ENST00000253693	D	0.86627	-2.15	5.48	5.48	0.80851	Peptidase C2, calpain, large subunit, domain III (1);Peptidase C2, calpain, domain III (1);	0.998190	0.08112	N	0.996014	D	0.82641	0.5081	L	0.29908	0.895	0.33618	D	0.604407	B	0.15141	0.012	B	0.15052	0.012	T	0.74097	-0.3775	10	0.25751	T	0.34	-1.9331	15.2344	0.73416	0.0:0.0:0.0:1.0	.	688	Q9Y6W3	CAN7_HUMAN	S	688	ENSP00000253693:L688S	ENSP00000253693:L688S	L	+	2	0	CAPN7	15263295	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	2.913000	0.48790	2.092000	0.63282	0.533000	0.62120	TTA		0.284	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		C	15288291	T	C	15288291	3	2	119	1	0	0	0	0	1	0	0	0	2633	1764	61	3	2133	3	CAPN7	3	15288291	Missense_Mutation	SNP	T	TCGA-AL-7173-01A-11D-2136-08	12078931	15288291	182734139	10	7276											
ACAD9	28976	hgsc.bcm.edu	37	3	128612493	128612493	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr3:128612493G>C	ENST00000308982.7	+	3	421	c.340G>C	c.(340-342)Gaa>Caa	p.E114Q		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	114						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGTCCCAGAAGAATATGGTAA	0.448																																																0													40	45	43					3																	128612493		2203	4300	6503	SO:0001583	missense	28976			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.340G>C	chr3.hg19:g.128612493G>C	ENSP00000312618:p.Glu114Gln		D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	hg19	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723058	0.68959	.	.	ENSG00000177646	ENST00000308982;ENST00000514336	D;D	0.99809	-6.86;-6.86	5.94	5.94	0.96194	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	L	0.53249	1.67	0.80722	D	1	P	0.40970	0.734	B	0.37480	0.251	D	0.99909	1.1193	10	0.56958	D	0.05	.	17.8532	0.88754	0.0:0.0:1.0:0.0	.	114	Q9H845	ACAD9_HUMAN	Q	114;126	ENSP00000312618:E114Q;ENSP00000423758:E126Q	ENSP00000312618:E114Q	E	+	1	0	ACAD9	130095183	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	8.237000	0.89807	2.816000	0.96949	0.563000	0.77884	GAA		0.448	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		C	128612493	G	C	128612493	3	2	119	1	0	0	0	0	1	0	0	0	111	943	33	4	350	4	ACAD9	3	128612493	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08	113324202	128612493	69409937	11	7277											
COMMD2	51122	hgsc.bcm.edu	37	3	149468478	149468478	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr3:149468478C>T	ENST00000473414.1	-	4	443	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	130	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TACATCTAGTCGCCATTCAAG	0.333																																																0													138	131	133					3																	149468478		2203	4300	6503	SO:0001583	missense	51122			AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.389G>A	chr3.hg19:g.149468478C>T	ENSP00000419475:p.Arg130Gln		Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	ENST00000473414.1	hg19	CCDS3145.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480742	0.84747	.	.	ENSG00000114744	ENST00000473414	T	0.27104	1.69	5.36	4.49	0.54785	COMM domain (1);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.89715	3.055	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.68104	-0.5497	10	0.87932	D	0	-2.9867	13.9104	0.63864	0.0:0.9268:0.0:0.0732	.	130	Q86X83	COMD2_HUMAN	Q	130	ENSP00000419475:R130Q	ENSP00000419475:R130Q	R	-	2	0	COMMD2	150951168	1.000000	0.71417	0.996000	0.52242	0.823000	0.46562	6.402000	0.73260	1.397000	0.46682	0.650000	0.86243	CGA		0.333	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094		T	149468478	C	T	149468478	3	4	119	1	0	0	0	0	1	0	0	0	3718	884	31	1	218	1	COMMD2	3	149468478	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08	20855985	149468478	48553952	12	7278											
FAM194A	131831	hgsc.bcm.edu	37	3	150421569	150421569	+	Silent	SNP	T	T	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr3:150421569T>C	ENST00000295910.6	-	1	169	c.117A>G	c.(115-117)gaA>gaG	p.E39E	RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2												p.E39E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						cctccacctcttcctcctcct	0.627																																																1	Substitution - coding silent(1)	prostate(1)											92	78	83					3																	150421569		2203	4298	6501	SO:0001819	synonymous_variant	131831																														ENST00000295910.6:c.117A>G	chr3.hg19:g.150421569T>C				Silent	SNP	ENST00000295910.6	hg19	CCDS3151.2																																																																																				0.627	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			C	150421569	T	C	150421569	2	2	119	1	0	0	0	0	0	0	0	1	5528	1606	56	3		3	FAM194A	3	150421569	Silent	SNP	T	TCGA-AL-7173-01A-11D-2136-08	953091	150421569	47600861	13	7279											
FETUB	26998	hgsc.bcm.edu	37	3	186362554	186362554	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr3:186362554A>G	ENST00000265029.3	+	4	540	c.439A>G	c.(439-441)Att>Gtt	p.I147V	RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382134.3_Missense_Mutation_p.I82V|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000450521.1_Missense_Mutation_p.I147V|FETUB_ENST00000382136.3_Missense_Mutation_p.I110V	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	147					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AAAAAAAAAGATTTACATGAC	0.408																																																0													102	96	98					3																	186362554		2203	4300	6503	SO:0001583	missense	26998			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.439A>G	chr3.hg19:g.186362554A>G	ENSP00000265029:p.Ile147Val		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	hg19	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	A	5.125	0.208699	0.09757	.	.	ENSG00000090512	ENST00000450521;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T	0.39406	3.17;3.17;1.08;3.14	5.29	-0.0385	0.13880	Proteinase inhibitor I25C, fetuin, conserved site (1);	0.418485	0.23250	N	0.050254	T	0.22085	0.0532	N	0.21583	0.68	0.19300	N	0.999976	B;B;B	0.13145	0.002;0.007;0.007	B;B;B	0.13407	0.004;0.009;0.004	T	0.11227	-1.0596	10	0.27785	T	0.31	-2.9015	4.6541	0.12610	0.592:0.1544:0.2537:0.0	.	110;82;147	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	V	147;147;82;110	ENSP00000404288:I147V;ENSP00000265029:I147V;ENSP00000371569:I82V;ENSP00000371571:I110V	ENSP00000265029:I147V	I	+	1	0	FETUB	187845248	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.250000	0.18235	-0.155000	0.11098	-0.274000	0.10170	ATT		0.408	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		G	186362554	A	G	186362554	3	3	119	1	0	0	0	0	1	0	0	0	5823	333	12	3	453	3	FETUB	3	186362554	Missense_Mutation	SNP	A	TCGA-AL-7173-01A-11D-2136-08	35940985	186362554	11659876	14	7280											
ST6GAL1	6480	hgsc.bcm.edu	37	3	186790685	186790685	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr3:186790685delG	ENST00000169298.3	+	6	1428	c.754delG	c.(754-756)ggafs	p.G252fs	ST6GAL1_ENST00000448044.1_Frame_Shift_Del_p.G252fs|ST6GAL1_ENST00000457772.2_Frame_Shift_Del_p.G21fs	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	252					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTACAATGAAGGAATCCTAAT	0.433																																																0													142	139	140					3																	186790685		2203	4300	6503	SO:0001589	frameshift_variant	6480			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.754delG	chr3.hg19:g.186790685delG	ENSP00000169298:p.Gly252fs		A8KA14|B2R513|D3DNV3	Frame_Shift_Del	DEL	ENST00000169298.3	hg19	CCDS3285.1																																																																																				0.433	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		-	186790685	G	-	186790685	7	5	119	1	0	1	0	1	0	0	0	0	15226	1001	35	0	764	0	ST6GAL1	3	186790685	Frame_Shift_Del	DEL	G	TCGA-AL-7173-01A-11D-2136-08	428131	186790685	11231745	15	7281											
EGF	1950	hgsc.bcm.edu	37	4	110865158	110865158	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr4:110865158A>T	ENST00000265171.5	+	4	1115	c.670A>T	c.(670-672)Agc>Tgc	p.S224C	EGF_ENST00000509793.1_Missense_Mutation_p.S224C|EGF_ENST00000503392.1_Missense_Mutation_p.S224C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	224					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CAGAGAAGGAAGCAATTCTCT	0.388																																																0													140	143	142					4																	110865158		2203	4300	6503	SO:0001583	missense	1950			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.670A>T	chr4.hg19:g.110865158A>T	ENSP00000265171:p.Ser224Cys		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	hg19	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444933	0.63178	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.91464	-2.85;-2.85;-2.85	5.71	-0.638	0.11500	Six-bladed beta-propeller, TolB-like (1);	0.594017	0.19957	N	0.102292	D	0.91019	0.7175	L	0.57536	1.79	0.09310	N	1	D;D;D	0.64830	0.99;0.994;0.983	P;P;P	0.55999	0.619;0.789;0.619	D	0.85276	0.1059	10	0.72032	D	0.01	.	11.2107	0.48797	0.3476:0.0:0.6524:0.0	.	224;224;224	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	C	224	ENSP00000424316:S224C;ENSP00000265171:S224C;ENSP00000421384:S224C	ENSP00000265171:S224C	S	+	1	0	EGF	111084607	0.211000	0.23529	0.001000	0.08648	0.160000	0.22226	0.879000	0.28146	-0.085000	0.12573	0.533000	0.62120	AGC		0.388	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			T	110865158	A	T	110865158	3	4	119	1	0	0	0	0	1	0	0	0	4964	72	3	5	684	5	EGF	4	110865158	Missense_Mutation	SNP	A	TCGA-AL-7173-01A-11D-2136-08		110865158	80289118	16	7282											
MND1	84057	hgsc.bcm.edu	37	4	154330168	154330168	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr4:154330168G>C	ENST00000504860.1	+	6	510	c.467G>C	c.(466-468)gGt>gCt	p.G156A	MND1_ENST00000240488.3_Splice_Site					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AGATGGACTGGTATGTACTAT	0.299																																																0													88	88	88					4																	154330168		2203	4300	6503	SO:0001583	missense	84057			AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.467G>C	chr4.hg19:g.154330168G>C	ENSP00000422933:p.Gly156Ala			Splice_Site	SNP	ENST00000504860.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.71|17.71	3.455955|3.455955	0.63401|0.63401	.|.	.|.	ENSG00000121211|ENSG00000121211	ENST00000240488|ENST00000504860	.|.	.|.	.|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67316	.|0.2880	.|.	.|.	.|.	0.32963|0.32963	D|D	0.521356|0.521356	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72577	.|-0.4251	.|4	.|.	.|.	.|.	.|-14.8667	17.8243|17.8243	0.88660|0.88660	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|A	-1|156	.|.	.|.	.|G	+|+	.|2	.|0	MND1|MND1	154549618|154549618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	6.338000|6.338000	0.72963|0.72963	2.576000|2.576000	0.86940|0.86940	0.591000|0.591000	0.81541|0.81541	.|GGT		0.299	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	NM_032117		C	154330168	G	C	154330168	3	2	119	1	0	0	0	0	1	0	0	0	9677	1275	44	4	538	4	MND1	4	154330168	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08	43465010	154330168	36824108	17	7283											
C5orf42	65250	hgsc.bcm.edu	37	5	37187887	37187887	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr5:37187887G>C	ENST00000508244.1	-	21	3962	c.3869C>G	c.(3868-3870)tCc>tGc	p.S1290C	C5orf42_ENST00000425232.2_Missense_Mutation_p.S1290C|C5orf42_ENST00000274258.7_Missense_Mutation_p.S171C			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1290						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCAACTATAGGATAACTTATC	0.373																																																0													109	102	104					5																	37187887		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3869C>G	chr5.hg19:g.37187887G>C	ENSP00000421690:p.Ser1290Cys		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867793	0.72065	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.49	5.49	0.81192	.	0.080123	0.49305	D	0.000159	T	0.75228	0.3821	L	0.29908	0.895	0.46701	D	0.999167	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.77525	-0.2555	10	0.87932	D	0	.	19.7365	0.96208	0.0:0.0:1.0:0.0	.	1290;171	E9PH94;Q9H799	.;CE042_HUMAN	C	1290;1290;171;338;171	ENSP00000421690:S1290C;ENSP00000389014:S1290C;ENSP00000274258:S171C;ENSP00000424223:S338C	ENSP00000274258:S171C	S	-	2	0	C5orf42	37223644	1.000000	0.71417	0.982000	0.44146	0.176000	0.22953	8.290000	0.89925	2.749000	0.94314	0.491000	0.48974	TCC		0.373	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		C	37187887	G	C	37187887	3	2	119	1	0	0	0	0	1	0	0	0	2303	1174	41	4	5848	4	C5orf42	5	37187887	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08		37187887	143727373	18	7284											
C7	730	hgsc.bcm.edu	37	5	40964972	40964972	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr5:40964972C>G	ENST00000313164.9	+	14	2238	c.1879C>G	c.(1879-1881)Cag>Gag	p.Q627E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	627	CCP 2.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AATGCATTGTCAGAGTGAGTG	0.403																																																0													147	147	147					5																	40964972		1988	4163	6151	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1879C>G	chr5.hg19:g.40964972C>G	ENSP00000322061:p.Gln627Glu		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	hg19	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296653	0.60086	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.44881	0.91	6.04	6.04	0.98038	Complement control module (2);Sushi/SCR/CCP (1);	0.184818	0.47455	D	0.000226	T	0.36276	0.0961	L	0.32530	0.975	0.49687	D	0.999811	P	0.46395	0.877	B	0.37480	0.251	T	0.21690	-1.0238	10	0.56958	D	0.05	-8.4484	20.5948	0.99439	0.0:1.0:0.0:0.0	.	627	P10643	CO7_HUMAN	E	627;467	ENSP00000322061:Q627E	ENSP00000322061:Q627E	Q	+	1	0	C7	41000729	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.443000	0.44881	2.873000	0.98535	0.563000	0.77884	CAG		0.403	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			G	40964972	C	G	40964972	3	3	119	1	0	0	0	0	1	0	0	0	2377	827	29	4	1933	4	C7	5	40964972	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08	3777085	40964972	139950288	19	7285											
ITGA1	3672	hgsc.bcm.edu	37	5	52204750	52204750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr5:52204750delT	ENST00000282588.6	+	13	1936	c.1478delT	c.(1477-1479)attfs	p.I493fs		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	493					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTGGCAGTATTTTAACAACA	0.383																																																0													154	149	151					5																	52204750		2203	4300	6503	SO:0001589	frameshift_variant	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1478delT	chr5.hg19:g.52204750delT	ENSP00000282588:p.Ile493fs		B2RNU0	Frame_Shift_Del	DEL	ENST00000282588.6	hg19	CCDS3955.1																																																																																				0.383	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		-	52204750	T	-	52204750	7	5	119	1	0	1	0	1	0	0	0	0	7874	1493	52	0	1528	0	ITGA1	5	52204750	Frame_Shift_Del	DEL	T	TCGA-AL-7173-01A-11D-2136-08	11239778	52204750	128710510	20	7286											
LARS	51520	hgsc.bcm.edu	37	5	145552256	145552256	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr5:145552256delT	ENST00000394434.2	-	3	373	c.207delA	c.(205-207)aaafs	p.K69fs	LARS_ENST00000274562.9_Frame_Shift_Del_p.K69fs|LARS_ENST00000510191.1_Frame_Shift_Del_p.K15fs|LARS_ENST00000545646.1_Frame_Shift_Del_p.K69fs|LARS_ENST00000511505.1_5'UTR	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	69					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTACCTCACATTTGGATAAAG	0.353																																																0													94	87	90					5																	145552256		2203	4300	6503	SO:0001589	frameshift_variant	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.207delA	chr5.hg19:g.145552256delT	ENSP00000377954:p.Lys69fs		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Frame_Shift_Del	DEL	ENST00000394434.2	hg19	CCDS34265.1																																																																																				0.353	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		-	145552256	T	-	145552256	7	5	119	1	0	1	0	1	0	0	0	0	8636	1490	52	0	3443	0	LARS	5	145552256	Frame_Shift_Del	DEL	T	TCGA-AL-7173-01A-11D-2136-08	93347506	145552256	35363004	21	7287											
SPINK5	11005	hgsc.bcm.edu	37	5	147510840	147510840	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr5:147510840G>C	ENST00000256084.7	+	31	3025	c.2983G>C	c.(2983-2985)Gac>Cac	p.D995H	SPINK5_ENST00000359874.3_Missense_Mutation_p.D1025H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	995	Kazal-like 15. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTGCAAAGACTACCGAGT	0.433																																																0													250	232	238					5																	147510840		1894	4123	6017	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2983G>C	chr5.hg19:g.147510840G>C	ENSP00000256084:p.Asp995His		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	hg19	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	4.580	0.107817	0.08780	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.75367	-0.93;-0.93	4.69	0.694	0.18062	Proteinase inhibitor I1, Kazal (1);	0.707951	0.13366	N	0.393281	T	0.44180	0.1281	N	0.02539	-0.55	0.24542	N	0.994066	B;B	0.10296	0.003;0.0	B;B	0.09377	0.003;0.004	T	0.29274	-1.0017	10	0.22109	T	0.4	-0.8408	7.0127	0.24871	0.2944:0.3745:0.3311:0.0	.	1025;995	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	H	1025;995	ENSP00000352936:D1025H;ENSP00000256084:D995H	ENSP00000256084:D995H	D	+	1	0	SPINK5	147491033	0.961000	0.32948	0.962000	0.40283	0.816000	0.46133	-0.005000	0.12855	-0.016000	0.14127	-0.136000	0.14681	GAC		0.433	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		C	147510840	G	C	147510840	3	2	119	1	0	0	0	0	1	0	0	0	15067	942	33	4	3211	4	SPINK5	5	147510840	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08	1958584	147510840	33404420	22	7288											
SERPINB9	5272	hgsc.bcm.edu	37	6	2890546	2890546	+	Nonsense_Mutation	SNP	C	C	A	rs375600576		TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr6:2890546C>A	ENST00000380698.4	-	7	1071	c.982G>T	c.(982-984)Gag>Tag	p.E328*		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	328					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCCGCTGCCTCGGTGCCTTCT	0.547																																																0													104	92	96					6																	2890546		2203	4300	6503	SO:0001587	stop_gained	5272			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.982G>T	chr6.hg19:g.2890546C>A	ENSP00000370074:p.Glu328*		B2RBW3|Q5TD03	Nonsense_Mutation	SNP	ENST00000380698.4	hg19	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487921	0.84854	.	.	ENSG00000170542	ENST00000380698	.	.	.	4.66	4.66	0.58398	.	0.045448	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4207	0.87514	0.0:1.0:0.0:0.0	.	.	.	.	X	328	.	ENSP00000370074:E328X	E	-	1	0	SERPINB9	2835545	1.000000	0.71417	0.695000	0.30226	0.086000	0.17979	5.692000	0.68256	2.502000	0.84385	0.655000	0.94253	GAG		0.547	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			A	2890546	C	A	2890546	4	1	119	1	0	0	0	0	0	1	0	0	14114	893	31	4	152	4	SERPINB9	6	2890546	Nonsense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08		2890546	168224521	23	7289											
HOXA1	3198	hgsc.bcm.edu	37	7	27134334	27134334	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr7:27134334C>T	ENST00000343060.4	-	2	794	c.733G>A	c.(733-735)Gag>Aag	p.E245K	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	245					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACTCCTTCTCCAGTTCCGTG	0.582																																																0													120	109	113					7																	27134334		2203	4300	6503	SO:0001583	missense	3198				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.733G>A	chr7.hg19:g.27134334C>T	ENSP00000343246:p.Glu245Lys		A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	hg19	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901126	0.92035	.	.	ENSG00000105991	ENST00000343060	D	0.97575	-4.44	5.31	5.31	0.75309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.046170	0.85682	D	0.000000	D	0.98848	0.9611	M	0.92317	3.295	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.99686	1.1000	10	0.87932	D	0	.	18.98	0.92752	0.0:1.0:0.0:0.0	.	245	P49639	HXA1_HUMAN	K	245	ENSP00000343246:E245K	ENSP00000343246:E245K	E	-	1	0	HOXA1	27100859	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.495000	0.84180	0.655000	0.94253	GAG		0.582	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			T	27134334	C	T	27134334	3	4	119	1	0	0	0	0	1	0	0	0	7290	864	30	2	278	2	HOXA1	7	27134334	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08		27134334	132004329	24	7290											
MAGI2	9863	hgsc.bcm.edu	37	7	78131031	78131031	+	Silent	SNP	C	C	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr7:78131031C>A	ENST00000354212.4	-	5	1081	c.828G>T	c.(826-828)gtG>gtT	p.V276V	MAGI2_ENST00000419488.1_Silent_p.V276V|MAGI2_ENST00000535697.1_Silent_p.V113V|MAGI2_ENST00000522391.1_Silent_p.V276V|MAGI2_ENST00000536571.1_Silent_p.V108V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	276	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCTGACTGTACACTGGTGCAG	0.493																																																0													233	184	201					7																	78131031		2203	4300	6503	SO:0001819	synonymous_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.828G>T	chr7.hg19:g.78131031C>A			A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	hg19	CCDS5594.1																																																																																				0.493	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		A	78131031	C	A	78131031	2	1	119	1	0	0	0	0	0	0	0	1	9193	465	17	4		4	MAGI2	7	78131031	Silent	SNP	C	TCGA-AL-7173-01A-11D-2136-08	50996697	78131031	81007632	25	7291											
PCLO	27445	hgsc.bcm.edu	37	7	82763823	82763823	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr7:82763823C>G	ENST00000333891.9	-	3	3380	c.3043G>C	c.(3043-3045)Gct>Cct	p.A1015P	PCLO_ENST00000423517.2_Missense_Mutation_p.A1015P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGTTGGAGCTTGTTCAGCT	0.428																																																0													87	84	85					7																	82763823		1833	4087	5920	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3043G>C	chr7.hg19:g.82763823C>G	ENSP00000334319:p.Ala1015Pro			Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.239	0.600956	0.13939	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.76839	-1.05;-1.05	6.07	2.21	0.28008	.	.	.	.	.	T	0.66626	0.2808	L	0.36672	1.1	0.09310	N	0.999994	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.005	T	0.57659	-0.7773	9	0.87932	D	0	.	6.642	0.22914	0.1221:0.6245:0.0:0.2534	.	1015;1015	Q9Y6V0-5;Q9Y6V0-6	.;.	P	961;1015;1015	ENSP00000334319:A1015P;ENSP00000388393:A1015P	ENSP00000334319:A1015P	A	-	1	0	PCLO	82601759	0.000000	0.05858	0.011000	0.14972	0.864000	0.49448	0.079000	0.14782	0.126000	0.18424	-0.136000	0.14681	GCT		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82763823	C	G	82763823	3	3	119	1	0	0	0	0	1	0	0	0	11585	797	28	4	12494	4	PCLO	7	82763823	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08	4632792	82763823	76374840	26	7292											
CYP3A7	1551	hgsc.bcm.edu	37	7	99328744	99328744	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr7:99328744T>A	ENST00000336374.2	-	2	105	c.103A>T	c.(103-105)Aag>Tag	p.K35*		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	35					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ATTCCAAGCTTCTTAAAAAGT	0.423																																																0													105	98	100					7																	99328744		2203	4300	6503	SO:0001587	stop_gained	1551			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.103A>T	chr7.hg19:g.99328744T>A	ENSP00000337450:p.Lys35*		A4D288|Q9H241	Nonsense_Mutation	SNP	ENST00000336374.2	hg19	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576557	0.28092	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	.	.	.	3.52	3.52	0.40303	.	0.100727	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5745	0.33590	0.0:0.0:0.0:1.0	.	.	.	.	X	35	.	ENSP00000292414:K35X	K	-	1	0	CYP3A7	99166680	1.000000	0.71417	0.974000	0.42286	0.205000	0.24178	4.328000	0.59253	1.598000	0.50083	0.418000	0.28097	AAG		0.423	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			A	99328744	T	A	99328744	4	1	119	1	0	0	0	0	0	1	0	0	4183	1792	62	5	1456	5	CYP3A7	7	99328744	Nonsense_Mutation	SNP	T	TCGA-AL-7173-01A-11D-2136-08	16564921	99328744	59809919	27	7293											
CUX1	1523	hgsc.bcm.edu	37	7	101845410	101845410	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr7:101845410A>T	ENST00000292535.7	+	18	2871	c.2833A>T	c.(2833-2835)Acc>Tcc	p.T945S	CUX1_ENST00000360264.3_Missense_Mutation_p.T956S|CUX1_ENST00000546411.2_Missense_Mutation_p.T843S|CUX1_ENST00000549414.2_Missense_Mutation_p.T923S|CUX1_ENST00000550008.2_Missense_Mutation_p.T889S|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.T787S|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	945					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGAGGTGGACACCATCGAGCT	0.612																																																0													111	113	112					7																	101845410		2203	4300	6503	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2833A>T	chr7.hg19:g.101845410A>T	ENSP00000292535:p.Thr945Ser		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	hg19	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	33	5.209946	0.95069	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.79845	-1.28;-1.28;-1.3;-1.31;-1.22;-1.23	5.29	5.29	0.74685	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.132166	0.51477	D	0.000092	D	0.89511	0.6736	M	0.82056	2.57	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.80764	0.987;0.994	D	0.90018	0.4126	10	0.48119	T	0.1	-33.7771	15.2336	0.73411	1.0:0.0:0.0:0.0	.	945;956	P39880;P39880-3	CUX1_HUMAN;.	S	956;945;923;889;843;787	ENSP00000353401:T956S;ENSP00000292535:T945S;ENSP00000446630:T923S;ENSP00000447373:T889S;ENSP00000450125:T843S;ENSP00000451558:T787S	ENSP00000292535:T945S	T	+	1	0	CUX1	101632130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.010000	0.58986	0.533000	0.62120	ACC		0.612	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		T	101845410	A	T	101845410	3	4	119	1	0	0	0	0	1	0	0	0	4066	159	6	5	2970	5	CUX1	7	101845410	Missense_Mutation	SNP	A	TCGA-AL-7173-01A-11D-2136-08	2516666	101845410	57293253	28	7294											
MET	4233	hgsc.bcm.edu	37	7	116417463	116417463	+	Missense_Mutation	SNP	C	C	T	rs121913244		TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr7:116417463C>T	ENST00000318493.6	+	16	3521	c.3334C>T	c.(3334-3336)Cat>Tat	p.H1112Y	MET_ENST00000397752.3_Missense_Mutation_p.H1094Y|MET_ENST00000539704.1_5'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H1112Y(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGTGTATATCATGGGACTTT	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM993668	MET	M	rs121913244						188	175	179					7																	116417463		1832	4086	5918	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3334C>T	chr7.hg19:g.116417463C>T	ENSP00000317272:p.His1112Tyr		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615896	0.87359	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.33654	1.4;1.4	5.29	5.29	0.74685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	N	0.11364	0.135	0.80722	D	1	P;D	0.89917	0.937;1.0	P;D	0.91635	0.854;0.999	T	0.52711	-0.8539	10	0.51188	T	0.08	-16.8984	19.2953	0.94119	0.0:1.0:0.0:0.0	.	1112;1094	P08581-2;P08581	.;MET_HUMAN	Y	1094;1112	ENSP00000380860:H1094Y;ENSP00000317272:H1112Y	ENSP00000317272:H1112Y	H	+	1	0	MET	116204699	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.628000	0.89032	0.655000	0.94253	CAT		0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			T	116417463	C	T	116417463	3	4	119	1	0	0	0	0	1	0	0	0	9487	826	29	2	3392	2	MET	7	116417463	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08	14572053	116417463	42721200	29	7295											
C7orf55	154791	hgsc.bcm.edu	37	7	139030365	139030365	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr7:139030365A>T	ENST00000297534.6	+	2	510	c.257A>T	c.(256-258)aAg>aTg	p.K86M	LUC7L2_ENST00000541515.3_Missense_Mutation_p.K86M|C7orf55_ENST00000481123.1_3'UTR|C7orf55-LUC7L2_ENST00000541170.3_Intron	NM_197964.4	NP_932068.2	Q96HJ9	CG055_HUMAN	chromosome 7 open reading frame 55	86						mitochondrion (GO:0005739)				breast(1)|lung(2)	3						TTTCATGGCAAGGGTGAGCGC	0.562																																																0													76	68	71					7																	139030365		2203	4300	6503	SO:0001583	missense	100996928			AF161386	CCDS5853.1	7q34	2009-01-22	2009-01-22	2009-01-22	ENSG00000164898	ENSG00000164898			26946	protein-coding gene	gene with protein product	"formation of mitochondrial complexes 1 homolog (S. cerevisiae)"					12477932	Standard	NM_197964		Approved	HSPC268, FMC1		Q96HJ9	OTTHUMG00000151719	ENST00000297534.6:c.257A>T	chr7.hg19:g.139030365A>T	ENSP00000297534:p.Lys86Met		B7Z4Q3|Q75M90|Q9P0B3	Missense_Mutation	SNP	ENST00000297534.6	hg19	CCDS5853.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963741	0.74016	.	.	ENSG00000164898;ENSG00000146963	ENST00000297534;ENST00000541515	T;T	0.53423	0.62;1.33	5.62	3.25	0.37280	.	.	.	.	.	T	0.44244	0.1284	M	0.71581	2.175	0.32737	N	0.508162	B;B	0.10296	0.003;0.003	B;B	0.14578	0.011;0.011	T	0.53968	-0.8363	9	0.87932	D	0	-0.2264	5.3084	0.15817	0.7154:0.0:0.1316:0.1531	.	86;86	B7Z4Q3;Q96HJ9	.;CG055_HUMAN	M	86	ENSP00000297534:K86M;ENSP00000440222:K86M	ENSP00000297534:K86M	K	+	2	0	LUC7L2;C7orf55	138680905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.533000	0.36040	0.928000	0.37168	0.455000	0.32223	AAG		0.562	C7orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323626.1	NM_197964		T	139030365	A	T	139030365	3	4	119	1	0	0	0	0	1	0	0	0	2405	72	3	5	263	5	C7orf55	7	139030365	Missense_Mutation	SNP	A	TCGA-AL-7173-01A-11D-2136-08	22612902	139030365	20108298	30	7296											
KEL	3792	hgsc.bcm.edu	37	7	142658089	142658089	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr7:142658089C>A	ENST00000355265.2	-	4	800	c.326G>T	c.(325-327)gGa>gTa	p.G109V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	109					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTTGGCCCTTCCACAGGCAAA	0.512																																																0													133	133	133					7																	142658089		2203	4300	6503	SO:0001583	missense	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.326G>T	chr7.hg19:g.142658089C>A	ENSP00000347409:p.Gly109Val		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	hg19	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.61|12.61	1.990455|1.990455	0.35131|0.35131	.|.	.|.	ENSG00000197993|ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543|ENST00000460479	D;D;D|.	0.88741|.	-2.42;-2.42;-2.42|.	5.66|5.66	2.87|2.87	0.33458|0.33458	Peptidase M13 (1);|.	0.255042|.	0.27792|.	N|.	0.017836|.	T|T	0.71576|0.71576	0.3356|0.3356	M|M	0.83223|0.83223	2.63|2.63	0.45607|0.45607	D|D	0.998543|0.998543	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.68458|0.68458	-0.5403|-0.5403	10|5	0.87932|.	D|.	0|.	-14.3801|-14.3801	7.6264|7.6264	0.28214|0.28214	0.0:0.7371:0.0:0.2629|0.0:0.7371:0.0:0.2629	.|.	109|.	P23276|.	KELL_HUMAN|.	V|C	109;109;90|119	ENSP00000347409:G109V;ENSP00000419889:G109V;ENSP00000420011:G90V|.	ENSP00000347409:G109V|.	G|W	-|-	2|3	0|0	KEL|KEL	142368211|142368211	0.745000|0.745000	0.28261|0.28261	0.447000|0.447000	0.26932|0.26932	0.040000|0.040000	0.13550|0.13550	1.084000|1.084000	0.30828|0.30828	0.317000|0.317000	0.23160|0.23160	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.512	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142658089	C	A	142658089	3	1	119	1	0	0	0	0	1	0	0	0	8144	855	30	4	1936	4	KEL	7	142658089	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08	3627724	142658089	16480574	31	7297											
FBXO43	286151	hgsc.bcm.edu	37	8	101152996	101152996	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr8:101152996C>G	ENST00000428847.2	-	2	1802	c.1486G>C	c.(1486-1488)Gac>Cac	p.D496H		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	496	F-box.				meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GTTAAGATGTCCAGTTTTTCT	0.388																																																0													144	134	137					8																	101152996		1822	4082	5904	SO:0001583	missense	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1486G>C	chr8.hg19:g.101152996C>G	ENSP00000403293:p.Asp496His			Missense_Mutation	SNP	ENST00000428847.2	hg19	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070318	0.76301	.	.	ENSG00000156509	ENST00000428847	T	0.64618	-0.11	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.81394	0.4813	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84731	0.0745	10	0.87932	D	0	-12.012	18.3634	0.90383	0.0:1.0:0.0:0.0	.	462;496	C9J908;Q4G163	.;FBX43_HUMAN	H	496	ENSP00000403293:D496H	ENSP00000403293:D496H	D	-	1	0	FBXO43	101222172	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.034000	0.76511	2.398000	0.81561	0.655000	0.94253	GAC		0.388	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		G	101152996	C	G	101152996	3	3	119	1	0	0	0	0	1	0	0	0	5754	855	30	4	656	4	FBXO43	8	101152996	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08		101152996	45211026	32	7298											
FREM1	158326	hgsc.bcm.edu	37	9	14801824	14801824	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr9:14801824C>G	ENST00000380880.3	-	20	4303	c.3520G>C	c.(3520-3522)Gtg>Ctg	p.V1174L	FREM1_ENST00000380881.4_Missense_Mutation_p.V1175L|FREM1_ENST00000422223.2_Missense_Mutation_p.V1174L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1174					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCCAGGTCCACAGCGCTGATG	0.493																																																0													150	147	148					9																	14801824		2053	4219	6272	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3520G>C	chr9.hg19:g.14801824C>G	ENSP00000370262:p.Val1174Leu		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	hg19	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	8.474	0.858155	0.17178	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.49432	0.78;0.78;0.78	5.51	-0.193	0.13244	.	0.808695	0.12113	N	0.498353	T	0.32793	0.0841	L	0.33339	1.005	0.22017	N	0.999411	B	0.12013	0.005	B	0.09377	0.004	T	0.22556	-1.0213	10	0.21540	T	0.41	-0.3702	10.4355	0.44433	0.0:0.6222:0.0:0.3778	.	1174	Q5H8C1	FREM1_HUMAN	L	1175;1174;1174	ENSP00000370263:V1175L;ENSP00000412940:V1174L;ENSP00000370262:V1174L	ENSP00000370257:V1177L	V	-	1	0	FREM1	14791824	0.010000	0.17322	0.071000	0.20095	0.038000	0.13279	0.139000	0.16036	0.033000	0.15463	0.591000	0.81541	GTG		0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		G	14801824	C	G	14801824	3	3	119	1	0	0	0	0	1	0	0	0	6046	478	17	4	3141	4	FREM1	9	14801824	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08		14801824	126411607	33	7299											
FCN1	2219	hgsc.bcm.edu	37	9	137801883	137801883	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr9:137801883G>C	ENST00000371806.3	-	9	833	c.742C>G	c.(742-744)Cta>Gta	p.L248V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	248	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TGGCCCGTTAGAGAATTACCT	0.507																																																0													170	177	175					9																	137801883		2203	4300	6503	SO:0001583	missense	2219			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.742C>G	chr9.hg19:g.137801883G>C	ENSP00000360871:p.Leu248Val		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	hg19	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254797	0.39896	.	.	ENSG00000085265	ENST00000371806	T	0.78246	-1.16	3.29	1.19	0.21007	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	D	0.88742	0.6519	H	0.96833	3.89	0.33292	D	0.56369	D	0.67145	0.996	D	0.68765	0.96	D	0.85951	0.1464	9	0.87932	D	0	.	2.548	0.04742	0.2654:0.0:0.5025:0.2321	.	248	O00602	FCN1_HUMAN	V	248	ENSP00000360871:L248V	ENSP00000360871:L248V	L	-	1	2	FCN1	136941704	0.980000	0.34600	0.042000	0.18584	0.143000	0.21401	2.020000	0.41010	0.705000	0.31890	0.643000	0.83706	CTA		0.507	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		C	137801883	G	C	137801883	3	2	119	1	0	0	0	0	1	0	0	0	5793	933	33	4	242	4	FCN1	9	137801883	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08	123000059	137801883	3411548	34	7300											
PLAU	414236	hgsc.bcm.edu	37	10	75672687	75672687	+	Intron	SNP	T	T	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr10:75672687T>A	ENST00000409178.1	-	3	301				PLAU_ENST00000372762.4_Missense_Mutation_p.S31T|PLAU_ENST00000446342.1_Missense_Mutation_p.S50T|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.S67T|C10orf55_ENST00000412307.2_Intron	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					TGTAGATAAGTCAAAAACCTG	0.468																																																0													50	49	49					10																	75672687		2203	4300	6503	SO:0001627	intron_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.39+113A>T	chr10.hg19:g.75672687T>A			Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	hg19	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440884	0.25900	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.62364	0.03;0.03;0.03	5.78	3.47	0.39725	Kringle-like fold (1);	0.659026	0.14635	N	0.307599	T	0.47875	0.1469	L	0.38692	1.165	0.09310	N	0.999999	B;B;B;B	0.24823	0.022;0.112;0.022;0.027	B;B;B;B	0.26864	0.026;0.074;0.014;0.018	T	0.34428	-0.9829	10	0.33141	T	0.24	.	5.3638	0.16103	0.0:0.0896:0.1988:0.7116	.	50;31;67;67	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	T	50;67;31;31	ENSP00000388474:S50T;ENSP00000361850:S67T;ENSP00000361848:S31T	ENSP00000361847:S31T	S	+	1	0	PLAU	75342693	0.000000	0.05858	0.022000	0.16811	0.143000	0.21401	0.117000	0.15583	1.009000	0.39289	-0.340000	0.08031	TCA		0.468	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		A	75672687	T	A	75672687	1	1	119	0	1	0	0	0	0	0	0	0	12024	1667	58	5		5	PLAU	10	75672687	Intron	SNP	T	TCGA-AL-7173-01A-11D-2136-08		75672687	59862060	35	7301											
WDR74	54663	hgsc.bcm.edu	37	11	62606983	62606983	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr11:62606983C>G	ENST00000525239.1	-	2	597	c.60G>C	c.(58-60)ttG>ttC	p.L20F	WDR74_ENST00000311713.7_Missense_Mutation_p.L20F|WDR74_ENST00000529106.1_Missense_Mutation_p.L20F|RNU2-2P_ENST00000410396.1_RNA|WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000278856.4_Missense_Mutation_p.L20F|WDR74_ENST00000525752.1_Intron			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	20					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						ACCCACCTTTCAAGATCCCAG	0.632																																																0													39	45	43					11																	62606983		2086	4226	6312	SO:0001583	missense	54663				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.60G>C	chr11.hg19:g.62606983C>G	ENSP00000432119:p.Leu20Phe		A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	hg19	CCDS44630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.49|18.49	3.634308|3.634308	0.67130|0.67130	.|.	.|.	ENSG00000133316|ENSG00000133316	ENST00000535048|ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000538098	.|T;T;T;T;T	.|0.39406	.|1.35;1.35;1.35;1.35;1.08	4.28|4.28	1.21|1.21	0.21127|0.21127	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.48502|0.48502	0.1503|0.1503	L|L	0.43554|0.43554	1.36|1.36	0.48632|0.48632	D|D	0.999681|0.999681	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.97110	.|0.997;0.953;1.0	T|T	0.39057|0.39057	-0.9632|-0.9632	5|10	.|0.48119	.|T	.|0.1	-8.5329|-8.5329	5.8248|5.8248	0.18548|0.18548	0.0:0.6468:0.161:0.1922|0.0:0.6468:0.161:0.1922	.|.	.|20;20;20	.|B4E018;Q6RFH5;Q6RFH5-2	.|.;WDR74_HUMAN;.	Q|F	12|20	.|ENSP00000308931:L20F;ENSP00000435726:L20F;ENSP00000432119:L20F;ENSP00000278856:L20F;ENSP00000440612:L20F	.|ENSP00000278856:L20F	E|L	-|-	1|3	0|2	WDR74|WDR74	62363559|62363559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	1.056000|1.056000	0.30480|0.30480	0.415000|0.415000	0.25817|0.25817	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.632	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		G	62606983	C	G	62606983	3	3	119	1	0	0	0	0	1	0	0	0	17329	825	29	4	1141	4	WDR74	11	62606983	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08		62606983	72399533	36	7302											
MMP13	4322	hgsc.bcm.edu	37	11	102822873	102822873	+	Missense_Mutation	SNP	C	C	G			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr11:102822873C>G	ENST00000260302.3	-	5	695	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	MMP13_ENST00000340273.4_Missense_Mutation_p.E223Q	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	223	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E223K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TGGCCGAACTCATGCGCAGCA	0.433																																																1	Substitution - Missense(1)	NS(1)											160	152	154					11																	102822873		2202	4299	6501	SO:0001583	missense	4322			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.667G>C	chr11.hg19:g.102822873C>G	ENSP00000260302:p.Glu223Gln		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	hg19	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305406	0.95601	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.83075	-1.68;-1.68	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95140	0.8263	10	0.87932	D	0	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	223	P45452	MMP13_HUMAN	Q	223	ENSP00000260302:E223Q;ENSP00000339672:E223Q	ENSP00000260302:E223Q	E	-	1	0	MMP13	102328083	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.772000	0.85439	2.866000	0.98385	0.650000	0.86243	GAG		0.433	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		G	102822873	C	G	102822873	3	3	119	1	0	0	0	0	1	0	0	0	9654	835	29	4	772	4	MMP13	11	102822873	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08	40215890	102822873	32183643	37	7303											
FKBP4	2288	hgsc.bcm.edu	37	12	2910328	2910328	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr12:2910328G>A	ENST00000001008.4	+	9	1265	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	360	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CTTCCGCCGGGGAGAGGCCCA	0.572																																																0													56	61	59					12																	2910328		2203	4300	6503	SO:0001583	missense	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1078G>A	chr12.hg19:g.2910328G>A	ENSP00000001008:p.Gly360Arg		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	hg19	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166076	0.78339	.	.	ENSG00000004478	ENST00000001008	T	0.66995	-0.24	5.57	4.68	0.58851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.047223	0.85682	N	0.000000	D	0.87577	0.6212	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91165	0.4964	10	0.72032	D	0.01	-18.3148	13.2702	0.60155	0.0758:0.0:0.9242:0.0	.	360	Q02790	FKBP4_HUMAN	R	360	ENSP00000001008:G360R	ENSP00000001008:G360R	G	+	1	0	FKBP4	2780589	1.000000	0.71417	0.913000	0.36048	0.591000	0.36615	9.383000	0.97214	1.355000	0.45865	0.561000	0.74099	GGA		0.572	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			A	2910328	G	A	2910328	3	1	119	1	0	0	0	0	1	0	0	0	5912	1233	43	2	1112	2	FKBP4	12	2910328	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08		2910328	130941567	38	7304											
LRRC23	10233	hgsc.bcm.edu	37	12	7023220	7023220	+	3'UTR	SNP	A	A	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr12:7023220A>C	ENST00000007969.8	+	0	1442				ENO2_ENST00000544774.1_5'Flank|LRRC23_ENST00000323702.5_Silent_p.A308A|ENO2_ENST00000541477.1_5'Flank|ENO2_ENST00000545045.2_5'Flank|ENO2_ENST00000535366.1_5'Flank|ENO2_ENST00000229277.1_5'Flank|LRRC23_ENST00000443597.2_3'UTR|LRRC23_ENST00000429740.1_3'UTR|ENO2_ENST00000538763.1_5'Flank	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23											NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TGTGGGGTGCAGAATGGGGTG	0.657																																																0													94	90	92					12																	7023220		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.*190A>C	chr12.hg19:g.7023220A>C			A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Silent	SNP	ENST00000007969.8	hg19	CCDS8569.1																																																																																				0.657	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		C	7023220	A	C	7023220	1	2	119	0	1	0	0	0	0	0	0	0	8980	175	7	5		5	LRRC23	12	7023220	3'UTR	SNP	A	TCGA-AL-7173-01A-11D-2136-08	4112892	7023220	126828675	39	7305											
CD163	9332	hgsc.bcm.edu	37	12	7640255	7640255	+	Missense_Mutation	SNP	G	G	A	rs373039092		TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr12:7640255G>A	ENST00000359156.4	-	8	1952	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	CD163_ENST00000396620.3_Missense_Mutation_p.R617C|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.R572C|CD163_ENST00000432237.2_Missense_Mutation_p.R584C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	584	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R584C(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TTCACCAAGCGAATTTCTGTG	0.488																																																1	Substitution - Missense(1)	skin(1)						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	70	71	71		1750,1750	5.2	0.9	12		71	1,8599		0,1,4299	no	missense,missense	CD163	NM_004244.5,NM_203416.3	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	584/1157,584/1122	7640255	1,13005	2203	4300	6503	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1750C>T	chr12.hg19:g.7640255G>A	ENSP00000352071:p.Arg584Cys		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	hg19	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173313	0.57584	0.0	1.16E-4	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.21	5.21	0.72293	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.076247	0.51477	D	0.000083	T	0.79627	0.4478	M	0.93763	3.455	0.26882	N	0.967512	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.917;0.988	T	0.76509	-0.2933	10	0.87932	D	0	.	16.6253	0.84968	0.0:0.0:1.0:0.0	.	617;584;584	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	C	584;572;617;584	ENSP00000352071:R584C;ENSP00000444071:R572C;ENSP00000379863:R617C;ENSP00000403885:R584C	ENSP00000352071:R584C	R	-	1	0	CD163	7531522	0.513000	0.26194	0.917000	0.36280	0.574000	0.36063	1.594000	0.36697	2.592000	0.87571	0.655000	0.94253	CGC		0.488	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		A	7640255	G	A	7640255	3	1	119	1	0	0	0	0	1	0	0	0	2969	1058	37	1	1756	1	CD163	12	7640255	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08	617035	7640255	126211640	40	7306											
KERA	11081	hgsc.bcm.edu	37	12	91449805	91449805	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr12:91449805G>C	ENST00000266719.3	-	2	501	c.254C>G	c.(253-255)aCc>aGc	p.T85S		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	85					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTCAGGAATGGTTTCTATCAG	0.353																																																0													119	112	115					12																	91449805		2202	4297	6499	SO:0001583	missense	11081			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.254C>G	chr12.hg19:g.91449805G>C	ENSP00000266719:p.Thr85Ser			Missense_Mutation	SNP	ENST00000266719.3	hg19	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	G	8.585	0.883190	0.17467	.	.	ENSG00000139330	ENST00000266719	T	0.56444	0.46	6.04	6.04	0.98038	.	0.296558	0.42821	N	0.000642	T	0.28001	0.0690	N	0.02368	-0.58	0.25604	N	0.986567	B	0.10296	0.003	B	0.15870	0.014	T	0.04650	-1.0936	10	0.10111	T	0.7	-17.6051	16.8507	0.85993	0.0:0.0:0.8711:0.1289	.	85	O60938	KERA_HUMAN	S	85	ENSP00000266719:T85S	ENSP00000266719:T85S	T	-	2	0	KERA	89973936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.631000	0.54280	2.890000	0.99128	0.650000	0.86243	ACC		0.353	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		C	91449805	G	C	91449805	3	2	119	1	0	0	0	0	1	0	0	0	8145	1261	44	4	812	4	KERA	12	91449805	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08	83809550	91449805	42402090	41	7307											
DDX54	79039	hgsc.bcm.edu	37	12	113610194	113610194	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr12:113610194A>G	ENST00000306014.5	-	11	1270	c.1243T>C	c.(1243-1245)Ttc>Ctc	p.F415L	DDX54_ENST00000314045.7_Missense_Mutation_p.F415L	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	415	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTGGCGGGGAAGCTGTAGTTG	0.637																																																0													80	65	70					12																	113610194		2203	4300	6503	SO:0001583	missense	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1243T>C	chr12.hg19:g.113610194A>G	ENSP00000304072:p.Phe415Leu		Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	hg19	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	A	32	5.178425	0.94846	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.72835	-0.69;-0.69	5.18	5.18	0.71444	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	L	0.28274	0.84	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.73380	0.966;0.98	T	0.79047	-0.1963	10	0.87932	D	0	.	14.7275	0.69354	1.0:0.0:0.0:0.0	.	415;415	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	L	415	ENSP00000323858:F415L;ENSP00000304072:F415L	ENSP00000304072:F415L	F	-	1	0	DDX54	112094577	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.294000	0.96088	1.966000	0.57179	0.528000	0.53228	TTC		0.637	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		G	113610194	A	G	113610194	3	3	119	1	0	0	0	0	1	0	0	0	4374	72	3	3	1445	3	DDX54	12	113610194	Missense_Mutation	SNP	A	TCGA-AL-7173-01A-11D-2136-08	22160389	113610194	20241701	42	7308											
CDK8	1024	hgsc.bcm.edu	37	13	26975735	26975736	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr13:26975735_26975736delGG	ENST00000381527.3	+	12	1746_1747	c.1243_1244delGG	c.(1243-1245)ggafs	p.G415fs	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	415					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TACCTCAGGTGGACTTATCATG	0.446																																																0																																										SO:0001589	frameshift_variant	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1243_1244delGG	chr13.hg19:g.26975735_26975736delGG	ENSP00000370938:p.Gly415fs		Q5VUF3|Q6ISB5	Frame_Shift_Del	DEL	ENST00000381527.3	hg19	CCDS9317.1																																																																																				0.446	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			-	26975736	GG	-	26975735	7	5	119	1	0	1	0	1	0	0	0	0	3152	1349	47	0	1289	0	CDK8	13	26975735	Frame_Shift_Del	DEL	GG	TCGA-AL-7173-01A-11D-2136-08		26975735	88194143	43	7309	64	2									
CDK8	1024	hgsc.bcm.edu	37	13	26975738	26975738	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr13:26975738C>A	ENST00000381527.3	+	12	1749	c.1246C>A	c.(1246-1248)Ctt>Att	p.L416I	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	416					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTCAGGTGGACTTATCATGAC	0.438																																																0													144	125	131					13																	26975738		2203	4300	6503	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1246C>A	chr13.hg19:g.26975738C>A	ENSP00000370938:p.Leu416Ile		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	hg19	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903879	0.52333	.	.	ENSG00000132964	ENST00000381527	T	0.68025	-0.3	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	N	0.08118	0	0.80722	D	1	P;P	0.39282	0.666;0.586	B;B	0.37833	0.259;0.146	T	0.51957	-0.8639	10	0.28530	T	0.3	-6.9656	18.9814	0.92756	0.0:1.0:0.0:0.0	.	415;416	P49336-2;P49336	.;CDK8_HUMAN	I	416	ENSP00000370938:L416I	ENSP00000370938:L416I	L	+	1	0	CDK8	25873738	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.440000	0.80464	2.491000	0.84063	0.655000	0.94253	CTT		0.438	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			A	26975738	C	A	26975738	3	1	119	1	0	0	0	0	1	0	0	0	3152	565	20	4	1292	4	CDK8	13	26975738	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08	3	26975738	88194140	44	7310	64	2									
DIAPH3	81624	hgsc.bcm.edu	37	13	60566699	60566699	+	Missense_Mutation	SNP	T	T	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr13:60566699T>A	ENST00000400324.4	-	10	1253	c.1033A>T	c.(1033-1035)Atc>Ttc	p.I345F	DIAPH3_ENST00000400330.1_Missense_Mutation_p.I345F|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I275F|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I334F|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I299F|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I345F	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	345	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGGGCATTGATGAGCTGCATA	0.393																																																0													65	60	62					13																	60566699		1908	4138	6046	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1033A>T	chr13.hg19:g.60566699T>A	ENSP00000383178:p.Ile345Phe		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	hg19	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490483	0.84962	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	5.77	5.77	0.91146	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97334	0.9128	H	0.95114	3.625	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.996	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.98	D	0.98505	1.0616	10	0.87932	D	0	.	16.0865	0.81056	0.0:0.0:0.0:1.0	.	275;299;334;82;345	A8MYX0;C9JL55;C9JDG1;Q9NSV4-1;Q9NSV4	.;.;.;.;DIAP3_HUMAN	F	345;345;334;299;275;334;275;299;345;82;345	ENSP00000383178:I345F;ENSP00000383184:I345F;ENSP00000367141:I334F;ENSP00000383173:I275F;ENSP00000383174:I299F;ENSP00000267215:I345F	ENSP00000267214:I82F	I	-	1	0	DIAPH3	59464700	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.606000	0.82863	2.194000	0.70268	0.377000	0.23210	ATC		0.393	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		A	60566699	T	A	60566699	3	1	119	1	0	0	0	0	1	0	0	0	4522	1464	51	5	2644	5	DIAPH3	13	60566699	Missense_Mutation	SNP	T	TCGA-AL-7173-01A-11D-2136-08	33590961	60566699	54603179	45	7311											
CPNE6	9362	hgsc.bcm.edu	37	14	24545747	24545747	+	Silent	SNP	G	G	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr14:24545747G>A	ENST00000397016.2	+	14	1457	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	CPNE6_ENST00000216775.2_Silent_p.P382P|CPNE6_ENST00000537691.1_Silent_p.P437P	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	382	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		ACTTTGACCCGGAAAATCCTG	0.587																																																0													100	103	102					14																	24545747		2203	4300	6503	SO:0001819	synonymous_variant	9362			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1146G>A	chr14.hg19:g.24545747G>A			B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	ENST00000397016.2	hg19	CCDS9607.1																																																																																				0.587	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			A	24545747	G	A	24545747	2	1	119	1	0	0	0	0	0	0	0	1	3818	1103	39	1		1	CPNE6	14	24545747	Silent	SNP	G	TCGA-AL-7173-01A-11D-2136-08		24545747	82803793	46	7312											
ANKDD1A	348094	hgsc.bcm.edu	37	15	65214185	65214185	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr15:65214185delA	ENST00000380230.3	+	4	362	c.333delA	c.(331-333)gtafs	p.V111fs	ANKDD1A_ENST00000395723.1_Frame_Shift_Del_p.V20fs|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_Frame_Shift_Del_p.K34fs|ANKDD1A_ENST00000496660.1_Frame_Shift_Del_p.V20fs|ANKDD1A_ENST00000357698.3_Frame_Shift_Del_p.V111fs|ANKDD1A_ENST00000395720.1_Frame_Shift_Del_p.V111fs|AC069368.3_ENST00000437723.1_Frame_Shift_Del_p.V183fs	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	111					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AGATCTTGGTAAACTCAGGGG	0.577																																																0													113	90	98					15																	65214185		2202	4299	6501	SO:0001589	frameshift_variant	348094				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.333delA	chr15.hg19:g.65214185delA	ENSP00000369579:p.Val111fs		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Frame_Shift_Del	DEL	ENST00000380230.3	hg19	CCDS10197.2																																																																																				0.577	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		-	65214185	A	-	65214185	7	5	119	1	0	1	0	1	0	0	0	0	624	349	13	0	347	0	ANKDD1A	15	65214185	Frame_Shift_Del	DEL	A	TCGA-AL-7173-01A-11D-2136-08		65214185	37317207	47	7313											
SEMA7A	8482	hgsc.bcm.edu	37	15	74708932	74708932	+	Missense_Mutation	SNP	A	A	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr15:74708932A>C	ENST00000261918.4	-	7	1333	c.785T>G	c.(784-786)gTg>gGg	p.V262G	SEMA7A_ENST00000543145.2_Missense_Mutation_p.V248G|SEMA7A_ENST00000542748.1_Missense_Mutation_p.V97G	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	262	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CAACTGGGCCACACGGGACAC	0.552																																																0													204	168	180					15																	74708932		2197	4296	6493	SO:0001583	missense	8482			AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.785T>G	chr15.hg19:g.74708932A>C	ENSP00000261918:p.Val262Gly		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	hg19	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.235032	0.58886	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.35789	1.29;1.29;1.29	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.065645	0.64402	D	0.000009	T	0.67316	0.2880	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75622	-0.3254	10	0.87932	D	0	-18.6242	13.6573	0.62346	1.0:0.0:0.0:0.0	.	248;262	F5H1S0;O75326	.;SEM7A_HUMAN	G	262;248;97	ENSP00000261918:V262G;ENSP00000438966:V248G;ENSP00000441493:V97G	ENSP00000261918:V262G	V	-	2	0	SEMA7A	72495985	1.000000	0.71417	0.993000	0.49108	0.169000	0.22640	5.449000	0.66619	2.043000	0.60533	0.533000	0.62120	GTG		0.552	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		C	74708932	A	C	74708932	3	2	119	1	0	0	0	0	1	0	0	0	14049	159	6	5	1247	5	SEMA7A	15	74708932	Missense_Mutation	SNP	A	TCGA-AL-7173-01A-11D-2136-08	9494747	74708932	27822460	48	7314											
ARID3B	10620	hgsc.bcm.edu	37	15	74884140	74884140	+	Missense_Mutation	SNP	A	A	G			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr15:74884140A>G	ENST00000346246.5	+	7	1636	c.1405A>G	c.(1405-1407)Agg>Ggg	p.R469G		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	469	REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CATGAAGATCAGGATCAACGG	0.637																																																0													43	45	44					15																	74884140		2196	4296	6492	SO:0001583	missense	10620				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1405A>G	chr15.hg19:g.74884140A>G	ENSP00000343126:p.Arg469Gly		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	hg19	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268903	0.59540	.	.	ENSG00000179361	ENST00000346246	T	0.47177	0.85	5.31	-0.252	0.12999	REKLES domain (1);	1.496780	0.03536	N	0.223239	T	0.51329	0.1668	L	0.49126	1.545	0.39186	D	0.962875	P;P	0.43352	0.501;0.804	B;P	0.44860	0.081;0.462	T	0.50224	-0.8853	10	0.33141	T	0.24	-15.6404	14.4155	0.67148	0.4611:0.5389:0.0:0.0	.	469;469	Q8IVW6;Q8IVW6-4	ARI3B_HUMAN;.	G	469	ENSP00000343126:R469G	ENSP00000343126:R469G	R	+	1	2	ARID3B	72671193	0.082000	0.21442	0.638000	0.29380	0.820000	0.46376	1.178000	0.31981	-0.309000	0.08779	0.533000	0.62120	AGG		0.637	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		G	74884140	A	G	74884140	3	3	119	1	0	0	0	0	1	0	0	0	917	179	7	3	1427	3	ARID3B	15	74884140	Missense_Mutation	SNP	A	TCGA-AL-7173-01A-11D-2136-08	175208	74884140	27647252	49	7315											
SGK269	79834	hgsc.bcm.edu	37	15	77406689	77406689	+	Silent	SNP	G	G	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr15:77406689G>A	ENST00000560626.2	-	7	5525	c.5050C>T	c.(5050-5052)Cta>Tta	p.L1684L	PEAK1_ENST00000312493.4_Silent_p.L1684L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1684					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTCTGTACTAGGCTAGGGCAG	0.542																																																0													93	96	95					15																	77406689		1943	4130	6073	SO:0001819	synonymous_variant	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.5050C>T	chr15.hg19:g.77406689G>A			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	hg19	CCDS42062.1																																																																																				0.542	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			A	77406689	G	A	77406689	2	1	119	1	0	0	0	0	0	0	0	1	14217	991	35	2		2	SGK269	15	77406689	Silent	SNP	G	TCGA-AL-7173-01A-11D-2136-08	2522549	77406689	25124703	50	7316											
ZNF423	23090	hgsc.bcm.edu	37	16	49670185	49670185	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr16:49670185T>C	ENST00000561648.1	-	4	2931	c.2878A>G	c.(2878-2880)Atg>Gtg	p.M960V	ZNF423_ENST00000567169.1_Missense_Mutation_p.M843V|ZNF423_ENST00000262383.2_Missense_Mutation_p.M960V|ZNF423_ENST00000563137.2_Missense_Mutation_p.M900V|ZNF423_ENST00000562520.1_Missense_Mutation_p.M900V|ZNF423_ENST00000562871.1_Missense_Mutation_p.M900V|ZNF423_ENST00000535559.1_Missense_Mutation_p.M843V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	960					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATGGGACACATGTAGTGCTTG	0.602																																																0													72	54	60					16																	49670185		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2878A>G	chr16.hg19:g.49670185T>C	ENSP00000455426:p.Met960Val		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	hg19	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766597	0.69878	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.16897	2.31;2.31	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	N	0.04043	-0.29	0.45648	D	0.998576	D	0.61697	0.99	D	0.67548	0.952	T	0.32375	-0.9909	9	.	.	.	-30.7346	14.3758	0.66874	0.0:0.0:0.0:1.0	.	960	Q2M1K9	ZN423_HUMAN	V	960;843	ENSP00000262383:M960V;ENSP00000442321:M843V	.	M	-	1	0	ZNF423	48227686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.289000	0.72696	1.814000	0.52955	0.459000	0.35465	ATG		0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		C	49670185	T	C	49670185	3	2	119	1	0	0	0	0	1	0	0	0	17903	1464	51	3	996	3	ZNF423	16	49670185	Missense_Mutation	SNP	T	TCGA-AL-7173-01A-11D-2136-08		49670185	40684568	51	7317											
FLII	2314	hgsc.bcm.edu	37	17	18150655	18150655	+	Missense_Mutation	SNP	A	A	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr17:18150655A>C	ENST00000327031.4	-	21	2729	c.2504T>G	c.(2503-2505)tTc>tGc	p.F835C	FLII_ENST00000545457.2_Missense_Mutation_p.F780C|FLII_ENST00000579294.1_Missense_Mutation_p.F824C|FLII_ENST00000379450.4_Missense_Mutation_p.F749C|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	835					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCAATTCTTGAACTTGGCCTT	0.602																																																0													108	92	97					17																	18150655		2203	4300	6503	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2504T>G	chr17.hg19:g.18150655A>C	ENSP00000324573:p.Phe835Cys		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	hg19	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872270	0.72180	.	.	ENSG00000177731	ENST00000327031;ENST00000379450	T;T	0.45276	0.9;0.9	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.996;0.996;1.0;0.993	T	0.73685	-0.3905	10	0.87932	D	0	-23.7587	15.4271	0.75061	1.0:0.0:0.0:0.0	.	749;749;835;804	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	C	835;749	ENSP00000324573:F835C;ENSP00000368763:F749C	ENSP00000324573:F835C	F	-	2	0	FLII	18091380	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	8.532000	0.90613	2.045000	0.60652	0.460000	0.39030	TTC		0.602	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		C	18150655	A	C	18150655	3	2	119	1	0	0	0	0	1	0	0	0	5927	246	9	5	1345	5	FLII	17	18150655	Missense_Mutation	SNP	A	TCGA-AL-7173-01A-11D-2136-08		18150655	63044555	52	7318											
ZPBP2	124626	hgsc.bcm.edu	37	17	38027753	38027753	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr17:38027753T>C	ENST00000348931.4	+	4	472	c.281T>C	c.(280-282)cTg>cCg	p.L94P	ZPBP2_ENST00000584588.1_Missense_Mutation_p.L94P|ZPBP2_ENST00000377940.3_Missense_Mutation_p.L72P	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	94					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACTGGACAGCTGATGGTGAAA	0.294																																																0													93	98	96					17																	38027753		2203	4298	6501	SO:0001583	missense	124626			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.281T>C	chr17.hg19:g.38027753T>C	ENSP00000335384:p.Leu94Pro		A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	hg19	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.855999	0.71834	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	D;D	0.92397	-3.03;-3.03	5.46	5.46	0.80206	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000158	D	0.95698	0.8601	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96132	0.9093	10	0.87932	D	0	-7.3583	13.7798	0.63077	0.0:0.0:0.0:1.0	.	72;94	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	P	94;72	ENSP00000335384:L94P;ENSP00000367174:L72P	ENSP00000335384:L94P	L	+	2	0	ZPBP2	35281279	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	4.645000	0.61404	2.072000	0.62099	0.377000	0.23210	CTG		0.294	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		C	38027753	T	C	38027753	3	2	119	1	0	0	0	0	1	0	0	0	18225	1580	55	3	295	3	ZPBP2	17	38027753	Missense_Mutation	SNP	T	TCGA-AL-7173-01A-11D-2136-08	19877098	38027753	43167457	53	7319											
TIMP2	7077	hgsc.bcm.edu	37	17	76867041	76867047	+	Frame_Shift_Del	DEL	GGGGGCC	GGGGGCC	-	rs372752139		TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	GGGGGCC	GGGGGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr17:76867041_76867047delGGGGGCC	ENST00000262768.7	-	3	571_577	c.273_279delGGCCCCC	c.(271-279)acggcccccfs	p.TAP91fs	TIMP2_ENST00000586057.1_Frame_Shift_Del_p.TAP14fs|TIMP2_ENST00000585421.1_Frame_Shift_Del_p.TAP14fs|TIMP2_ENST00000536189.2_Frame_Shift_Del_p.TAP14fs	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	91	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.A92V(1)|p.S94fs*43(1)		central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CTGCCGAGGAGGGGGCCGTGTAGATAA	0.541																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|prostate(1)																																								SO:0001589	frameshift_variant	7077				CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"tissue inhibitor of metalloproteinase 2"			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.273_279delGGCCCCC	chr17.hg19:g.76867041_76867047delGGGGGCC	ENSP00000262768:p.Thr91fs		Q16121|Q93006|Q9UDF7	Frame_Shift_Del	DEL	ENST00000262768.7	hg19	CCDS11758.1																																																																																				0.541	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335662.1	NM_003255		-	76867047	GGGGGCC	-	76867041	7	5	119	1	0	1	0	1	0	0	0	0	15923	987	35	0	395	0	TIMP2	17	76867041	Frame_Shift_Del	DEL	GGGGGCC	TCGA-AL-7173-01A-11D-2136-08	38839288	76867041	4328169	54	7320											
PLVAP	83483	hgsc.bcm.edu	37	19	17476968	17476968	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr19:17476968T>C	ENST00000252590.4	-	2	467	c.406A>G	c.(406-408)Atc>Gtc	p.I136V		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	136					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCAAGATGATGGCAGCCATG	0.552																																																0													237	203	215					19																	17476968		2203	4300	6503	SO:0001583	missense	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.406A>G	chr19.hg19:g.17476968T>C	ENSP00000252590:p.Ile136Val		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	hg19	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.551302	0.27739	.	.	ENSG00000130300	ENST00000252590	T	0.31247	1.5	4.07	3.05	0.35203	.	0.289259	0.35708	N	0.003037	T	0.33818	0.0876	L	0.34521	1.04	0.26494	N	0.974888	D	0.69078	0.997	D	0.80764	0.994	T	0.15178	-1.0446	10	0.10111	T	0.7	-51.4771	6.1733	0.20429	0.0:0.114:0.0:0.886	.	136	Q9BX97	PLVAP_HUMAN	V	136	ENSP00000252590:I136V	ENSP00000252590:I136V	I	-	1	0	PLVAP	17337968	1.000000	0.71417	0.994000	0.49952	0.058000	0.15608	2.845000	0.48254	0.915000	0.36847	0.459000	0.35465	ATC		0.552	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		C	17476968	T	C	17476968	3	2	119	1	0	0	0	0	1	0	0	0	12118	1464	51	3	942	3	PLVAP	19	17476968	Missense_Mutation	SNP	T	TCGA-AL-7173-01A-11D-2136-08		17476968	41652015	55	7321											
ZNF780A	284323	hgsc.bcm.edu	37	19	40581903	40581903	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr19:40581903G>C	ENST00000595687.2	-	6	655	c.446C>G	c.(445-447)cCt>cGt	p.P149R	ZNF780A_ENST00000455521.1_Missense_Mutation_p.P150R|ZNF780A_ENST00000450241.2_Missense_Mutation_p.P115R|ZNF780A_ENST00000594395.1_Missense_Mutation_p.P150R|ZNF780A_ENST00000340963.5_Missense_Mutation_p.P149R|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTATGAGTAGGCAGTTTTTC	0.333																																																0													198	170	179					19																	40581903		2203	4300	6503	SO:0001583	missense	284323			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.446C>G	chr19.hg19:g.40581903G>C	ENSP00000472189:p.Pro149Arg		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	hg19	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	G	0.101	-1.152082	0.01700	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.05447	3.44;3.46	0.928	0.928	0.19443	.	.	.	.	.	T	0.07413	0.0187	M	0.64404	1.975	0.09310	N	1	P;P	0.48162	0.51;0.906	B;B	0.44163	0.099;0.443	T	0.27872	-1.0061	9	0.15499	T	0.54	.	4.8476	0.13521	0.0:0.3981:0.6019:0.0	.	150;149	E9PB48;O75290	.;Z780A_HUMAN	R	149;150;149	ENSP00000400997:P150R;ENSP00000341507:P149R	ENSP00000341507:P149R	P	-	2	0	ZNF780A	45273743	0.000000	0.05858	0.009000	0.14445	0.048000	0.14542	-1.367000	0.02583	0.796000	0.33947	0.305000	0.20034	CCT		0.333	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		C	40581903	G	C	40581903	3	2	119	1	0	0	0	0	1	0	0	0	18157	1000	35	4	1610	4	ZNF780A	19	40581903	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08	23104935	40581903	18547080	56	7322											
NLRP7	199713	hgsc.bcm.edu	37	19	55449434	55449434	+	Missense_Mutation	SNP	T	T	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr19:55449434T>A	ENST00000590030.1	-	4	2147	c.2107A>T	c.(2107-2109)Acc>Tcc	p.T703S	NLRP7_ENST00000340844.2_Missense_Mutation_p.T703S|NLRP7_ENST00000588756.1_Missense_Mutation_p.T703S|NLRP7_ENST00000448121.2_Missense_Mutation_p.T675S|NLRP7_ENST00000446217.1_Missense_Mutation_p.T731S|NLRP7_ENST00000328092.5_Missense_Mutation_p.T675S|NLRP7_ENST00000592784.1_Missense_Mutation_p.T703S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	703							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGATGACAGGTGCTACGGGTT	0.428																																																0													243	252	249					19																	55449434		2203	4300	6503	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2107A>T	chr19.hg19:g.55449434T>A	ENSP00000465520:p.Thr703Ser		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	hg19	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	3.493	-0.103411	0.06967	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.51325	0.71;0.71;0.71	2.19	-1.51	0.08664	.	0.529447	0.14299	N	0.328408	T	0.26159	0.0638	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.32203	0.264;0.151;0.151;0.36	B;B;B;B	0.26416	0.057;0.032;0.032;0.069	T	0.16041	-1.0416	10	0.16896	T	0.51	.	2.3	0.04160	0.4111:0.2735:0.0:0.3154	.	731;703;703;675	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	S	703;675;703;731;470	ENSP00000409137:T675S;ENSP00000339491:T703S;ENSP00000414273:T731S	ENSP00000329568:T703S	T	-	1	0	NLRP7	60141246	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	-0.473000	0.06615	-0.505000	0.06568	-1.288000	0.01363	ACC		0.428	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55449434	T	A	55449434	3	1	119	1	0	0	0	0	1	0	0	0	10484	1696	59	5	1034	5	NLRP7	19	55449434	Missense_Mutation	SNP	T	TCGA-AL-7173-01A-11D-2136-08	14867531	55449434	3679549	57	7323											
CHRNA4	1137	hgsc.bcm.edu	37	20	61982183	61982183	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr20:61982183T>C	ENST00000370263.4	-	5	801	c.580A>G	c.(580-582)Atg>Gtg	p.M194V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	194					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CGGCTGTGCATGTTCACCAGG	0.587																																																0													138	114	122					20																	61982183		2203	4299	6502	SO:0001583	missense	1137				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.580A>G	chr20.hg19:g.61982183T>C	ENSP00000359285:p.Met194Val		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	hg19	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.814091	0.32053	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.78707	-1.2	4.87	2.6	0.31112	Neurotransmitter-gated ion-channel ligand-binding (3);	0.074711	0.85682	N	0.000000	T	0.61527	0.2354	N	0.16233	0.39	0.58432	D	0.999998	B;B	0.31125	0.309;0.017	B;B	0.31946	0.138;0.052	T	0.57382	-0.7821	10	0.72032	D	0.01	.	8.8251	0.35050	0.0:0.1556:0.0:0.8444	.	123;194	Q4VAQ5;P43681	.;ACHA4_HUMAN	V	100;194;123	ENSP00000359285:M194V	ENSP00000359280:M100V	M	-	1	0	CHRNA4	61452627	1.000000	0.71417	0.980000	0.43619	0.625000	0.37756	4.841000	0.62824	0.225000	0.20959	-0.379000	0.06801	ATG		0.587	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			C	61982183	T	C	61982183	3	2	119	1	0	0	0	0	1	0	0	0	3387	1464	51	3	1311	3	CHRNA4	20	61982183	Missense_Mutation	SNP	T	TCGA-AL-7173-01A-11D-2136-08		61982183	1043337	58	7324											
ARFRP1	10139	hgsc.bcm.edu	37	20	62333531	62333531	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr20:62333531G>C	ENST00000359715.5	-	4	869	c.303C>G	c.(301-303)gaC>gaG	p.D101E	ARFRP1_ENST00000324228.2_Missense_Mutation_p.D101E|ARFRP1_ENST00000485858.1_5'Flank|ARFRP1_ENST00000607873.1_Missense_Mutation_p.D54E|ARFRP1_ENST00000609142.1_Missense_Mutation_p.D101E|ARFRP1_ENST00000440854.1_Missense_Mutation_p.D101E			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	101					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CGTCGGTGGAGTCAATGACGT	0.632																																																0													102	82	89					20																	62333531		2203	4297	6500	SO:0001583	missense	10139			X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"ADP-ribosylation factors"	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.303C>G	chr20.hg19:g.62333531G>C	ENSP00000352746:p.Asp101Glu		B7ZKX7|E1P5J9|Q6IBQ0	Missense_Mutation	SNP	ENST00000359715.5	hg19	CCDS13533.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178823	0.78564	.	.	ENSG00000101246	ENST00000440854;ENST00000359715;ENST00000324228	T;T;T	0.79247	-1.25;-1.25;-1.25	5.53	-0.912	0.10504	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	H	0.99726	4.73	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90445	0.4434	10	0.87932	D	0	-27.1276	9.796	0.40735	0.4997:0.0:0.5003:0.0	.	101;101	B3KTR4;Q13795	.;ARFRP_HUMAN	E	101	ENSP00000403942:D101E;ENSP00000352746:D101E;ENSP00000326884:D101E	ENSP00000326884:D101E	D	-	3	2	ARFRP1	61803975	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	1.177000	0.31969	-0.026000	0.13895	0.462000	0.41574	GAC		0.632	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1			C	62333531	G	C	62333531	3	2	119	1	0	0	0	0	1	0	0	0	856	1020	36	4	322	4	ARFRP1	20	62333531	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08	351348	62333531	691989	59	7325											
ZDHHC8	29801	hgsc.bcm.edu	37	22	20130720	20130720	+	Missense_Mutation	SNP	C	C	T	rs532240635		TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr22:20130720C>T	ENST00000334554.7	+	10	1708	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.R523C|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.R431C	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	523					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCCCCTACCCCGCAGCTTCAG	0.706																																																0													17	21	19					22																	20130720		2173	4267	6440	SO:0001583	missense	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1567C>T	chr22.hg19:g.20130720C>T	ENSP00000334490:p.Arg523Cys		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	hg19	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	16.52	3.147388	0.57151	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.74002	1.22;-0.8;1.19	4.79	3.77	0.43336	.	1.375280	0.04372	N	0.359278	T	0.79411	0.4441	L	0.29908	0.895	0.49213	D	0.999762	D;D;D	0.69078	0.981;0.996;0.997	P;P;P	0.59703	0.635;0.862;0.642	T	0.65302	-0.6201	10	0.56958	D	0.05	.	12.8482	0.57842	0.0:0.9203:0.0:0.0797	.	431;523;523	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	C	523;431;523	ENSP00000334490:R523C;ENSP00000317804:R431C;ENSP00000384716:R523C	ENSP00000317804:R431C	R	+	1	0	ZDHHC8	18510720	0.996000	0.38824	1.000000	0.80357	0.387000	0.30353	3.788000	0.55446	1.025000	0.39708	-0.339000	0.08088	CGC		0.706	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		T	20130720	C	T	20130720	3	4	119	1	0	0	0	0	1	0	0	0	17626	652	23	1	1605	1	ZDHHC8	22	20130720	Missense_Mutation	SNP	C	TCGA-AL-7173-01A-11D-2136-08		20130720	31173846	60	7326											
ADSL	158	hgsc.bcm.edu	37	22	40745897	40745897	+	Missense_Mutation	SNP	T	T	A			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr22:40745897T>A	ENST00000216194.7	+	2	271	c.215T>A	c.(214-216)aTc>aAc	p.I72N	ADSL_ENST00000454266.2_Missense_Mutation_p.I72N|ADSL_ENST00000342312.6_Missense_Mutation_p.I72N	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	72			I -> V (in ADSL deficiency; severe). {ECO:0000269|PubMed:10090474}.		'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CTGGAGAACATCGACTTCAAG	0.433																																					Colon(4;65 130 1097 1516)											0													119	94	102					22																	40745897		2203	4300	6503	SO:0001583	missense	158			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.215T>A	chr22.hg19:g.40745897T>A	ENSP00000216194:p.Ile72Asn		B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	hg19	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	T	32	5.145835	0.94603	.	.	ENSG00000239900	ENST00000216194;ENST00000544206;ENST00000425605;ENST00000454266;ENST00000342312	D;D;D	0.95518	-3.73;-3.73;-3.64	5.59	5.59	0.84812	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.71674	0.978;0.983;0.998;0.998	P;D;D;D	0.76575	0.822;0.929;0.988;0.988	D	0.99433	1.0936	10	0.72032	D	0.01	-8.6026	15.8537	0.78956	0.0:0.0:0.0:1.0	.	72;72;72;72	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	N	72	ENSP00000216194:I72N;ENSP00000390107:I72N;ENSP00000341429:I72N	ENSP00000216194:I72N	I	+	2	0	ADSL	39075843	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.757000	0.85209	2.141000	0.66446	0.529000	0.55759	ATC		0.433	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		A	40745897	T	A	40745897	3	1	119	1	0	0	0	0	1	0	0	0	346	1435	50	5	221	5	ADSL	22	40745897	Missense_Mutation	SNP	T	TCGA-AL-7173-01A-11D-2136-08	20615177	40745897	10558669	61	7327											
PARVG	64098	hgsc.bcm.edu	37	22	44581694	44581694	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr22:44581694A>T	ENST00000444313.3	+	4	570	c.86A>T	c.(85-87)aAg>aTg	p.K29M	PARVG_ENST00000415224.1_Missense_Mutation_p.K29M|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000422871.1_Missense_Mutation_p.K29M	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	29					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CCAGGAGGAAAGAAGAAATAC	0.577																																																0													68	55	60					22																	44581694		2203	4300	6503	SO:0001583	missense	64098			AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.86A>T	chr22.hg19:g.44581694A>T	ENSP00000391583:p.Lys29Met		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	hg19	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.083589	0.55861	.	.	ENSG00000138964	ENST00000422871;ENST00000453888;ENST00000444313;ENST00000415224	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.79	4.79	0.61399	Calponin homology domain (1);	0.161867	0.39985	N	0.001210	T	0.63733	0.2536	M	0.70595	2.14	0.42735	D	0.993721	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.944	T	0.66945	-0.5795	10	0.66056	D	0.02	3.0E-4	7.9054	0.29759	0.8163:0.0:0.0:0.1837	.	96;29	B4DDW5;Q9HBI0	.;PARVG_HUMAN	M	29;96;29;29	ENSP00000391453:K29M;ENSP00000416104:K96M;ENSP00000391583:K29M;ENSP00000416761:K29M	ENSP00000349378:K29M	K	+	2	0	PARVG	42913027	1.000000	0.71417	0.994000	0.49952	0.692000	0.40212	3.551000	0.53698	1.781000	0.52344	0.533000	0.62120	AAG		0.577	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		T	44581694	A	T	44581694	3	4	119	1	0	0	0	0	1	0	0	0	11472	72	3	5	92	5	PARVG	22	44581694	Missense_Mutation	SNP	A	TCGA-AL-7173-01A-11D-2136-08	3835797	44581694	6722872	62	7328											
HDAC10	83933	hgsc.bcm.edu	37	22	50684494	50684494	+	Silent	SNP	A	A	G			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chr22:50684494A>G	ENST00000216271.5	-	18	2030	c.1678T>C	c.(1678-1680)Ttg>Ctg	p.L560L	HDAC10_ENST00000349505.4_Silent_p.L540L|HDAC10_ENST00000448072.1_Silent_p.L510L|HDAC10_ENST00000498366.1_5'UTR|TUBGCP6_ENST00000439308.2_5'Flank|TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	560					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCAAGCCCAAGATGCAGCTC	0.657																																																0													41	44	43					22																	50684494		2201	4300	6501	SO:0001819	synonymous_variant	83933			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1678T>C	chr22.hg19:g.50684494A>G			Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Silent	SNP	ENST00000216271.5	hg19	CCDS14088.1																																																																																				0.657	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		G	50684494	A	G	50684494	2	3	119	1	0	0	0	0	0	0	0	1	7007	69	3	3		3	HDAC10	22	50684494	Silent	SNP	A	TCGA-AL-7173-01A-11D-2136-08	6102800	50684494	620072	63	7329											
PRKX	5613	hgsc.bcm.edu	37	X	3544550	3544550	+	Missense_Mutation	SNP	G	G	C			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chrX:3544550G>C	ENST00000262848.5	-	5	1079	c.725C>G	c.(724-726)cCt>cGt	p.P242R	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				AAAAAACGGAGGAAACCTGTT	0.373																																																0													108	93	98					X																	3544550		2203	4300	6503	SO:0001583	missense	5613				CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.725C>G	chrX.hg19:g.3544550G>C	ENSP00000262848:p.Pro242Arg			Missense_Mutation	SNP	ENST00000262848.5	hg19	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994637	0.35226	.	.	ENSG00000183943	ENST00000262848	T	0.09073	3.02	3.47	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00909	-1.1518	10	0.87932	D	0	-3.9448	12.0899	0.53719	0.0:0.0:1.0:0.0	.	242	P51817	PRKX_HUMAN	R	242	ENSP00000262848:P242R	ENSP00000262848:P242R	P	-	2	0	PRKX	3554550	1.000000	0.71417	0.936000	0.37596	0.310000	0.27922	6.948000	0.75965	1.374000	0.46228	0.529000	0.55759	CCT		0.373	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		C	3544550	G	C	3544550	3	2	119	1	0	0	0	0	1	0	0	0	12532	1000	35	4	367	4	PRKX	23	3544550	Missense_Mutation	SNP	G	TCGA-AL-7173-01A-11D-2136-08		3544550	151726010	64	7330											
KIAA2022	340533	hgsc.bcm.edu	37	X	73961092	73961092	+	Silent	SNP	C	C	T			TCGA-AL-7173-01A-11D-2136-08	TCGA-AL-7173-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2fd86890-1842-4e9e-9100-f10814f8db6a	d279d1dd-cfd3-4527-8aaf-d880d7862c30	g.chrX:73961092C>T	ENST00000055682.6	-	3	3911	c.3300G>A	c.(3298-3300)gaG>gaA	p.E1100E		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1100					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTGGGACACCCTCTTGGAACC	0.478																																																0													75	70	72					X																	73961092		2203	4300	6503	SO:0001819	synonymous_variant	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3300G>A	chrX.hg19:g.73961092C>T			A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	hg19	CCDS35337.1																																																																																				0.478	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		T	73961092	C	T	73961092	2	4	119	1	0	0	0	0	0	0	0	1	8271	680	24	2		2	KIAA2022	23	73961092	Silent	SNP	C	TCGA-AL-7173-01A-11D-2136-08	70416542	73961092	81309468	65	7331											
MEGF6	1953	hgsc.bcm.edu	37	1	3425692	3425692	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr1:3425692G>A	ENST00000356575.4	-	12	1701	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	MEGF6_ENST00000294599.4_Missense_Mutation_p.A387V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	492						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TTCCTCATCGGCCCCGACGTC	0.682																																					Ovarian(73;978 3658)											0													16	20	18					1																	3425692		1999	4145	6144	SO:0001583	missense	1953			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1475C>T	chr1.hg19:g.3425692G>A	ENSP00000348982:p.Ala492Val		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	hg19	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	G	0.860	-0.735532	0.03111	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.86627	-2.15;-1.89	3.74	2.76	0.32466	.	0.812464	0.10434	N	0.675134	T	0.81297	0.4793	L	0.47716	1.5	0.09310	N	1	B;B	0.16396	0.007;0.017	B;B	0.12156	0.007;0.006	T	0.67444	-0.5669	10	0.30854	T	0.27	-0.505	7.6695	0.28451	0.0:0.1513:0.6354:0.2133	.	492;387	O75095;O75095-2	MEGF6_HUMAN;.	V	387;492	ENSP00000294599:A387V;ENSP00000348982:A492V	ENSP00000294599:A387V	A	-	2	0	MEGF6	3415552	0.011000	0.17503	0.017000	0.16124	0.027000	0.11550	1.272000	0.33109	1.906000	0.55180	0.462000	0.41574	GCC		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		A	3425692	G	A	3425692	3	1	120	1	0	0	0	0	1	0	0	0	9464	1203	42	2	3254	2	MEGF6	1	3425692	Missense_Mutation	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10		3425692	245824929	1	7332											
MYCN	4613	hgsc.bcm.edu	37	2	16085781	16085781	+	Silent	SNP	C	C	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr2:16085781C>T	ENST00000281043.3	+	3	1254	c.957C>T	c.(955-957)atC>atT	p.I319I		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	319					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCGAGCTGATCCTCAAACGAT	0.592			A		neuroblastoma																																		Dom	yes		2	2p24.1	4613	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"		O	0													87	72	77					2																	16085781		2203	4300	6503	SO:0001819	synonymous_variant	4613			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.957C>T	chr2.hg19:g.16085781C>T			Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	hg19	CCDS1687.1																																																																																				0.592	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		T	16085781	C	T	16085781	2	4	120	1	0	0	0	0	0	0	0	1	10023	845	30	2		2	MYCN	2	16085781	Silent	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10		16085781	227113592	2	7333											
EIF2AK3	9451	hgsc.bcm.edu	37	2	88913362	88913362	+	Silent	SNP	T	T	C			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr2:88913362T>C	ENST00000303236.3	-	2	619	c.318A>G	c.(316-318)gtA>gtG	p.V106V	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	106					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TGCTGATAATTACTAATGACC	0.373																																					GBM(138;671 1851 16235 39058 45249)											0													73	67	69					2																	88913362		2203	4300	6503	SO:0001819	synonymous_variant	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.318A>G	chr2.hg19:g.88913362T>C			A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	ENST00000303236.3	hg19	CCDS33241.1																																																																																				0.373	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		C	88913362	T	C	88913362	2	2	120	1	0	0	0	0	0	0	0	1	5000	1741	61	3		3	EIF2AK3	2	88913362	Silent	SNP	T	TCGA-AL-A5DJ-01A-11D-A26P-10	72827581	88913362	154286011	3	7334											
RANBP2	5903	hgsc.bcm.edu	37	2	109399079	109399079	+	Missense_Mutation	SNP	T	T	G			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr2:109399079T>G	ENST00000283195.6	+	28	9256	c.9130T>G	c.(9130-9132)Tta>Gta	p.L3044V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3044	RanBD1 4. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAGCAGAATTTAATGAAACT	0.393																																																0													89	90	90					2																	109399079		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.9130T>G	chr2.hg19:g.109399079T>G	ENSP00000283195:p.Leu3044Val		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	hg19	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.552949	0.27739	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.48522	0.81	5.57	3.14	0.36123	Ran binding protein 1 (1);	.	.	.	.	T	0.32971	0.0847	L	0.31526	0.94	0.22096	N	0.999367	B	0.10296	0.003	B	0.13407	0.009	T	0.24440	-1.0160	9	0.46703	T	0.11	-10.6162	5.3388	0.15973	0.135:0.144:0.0:0.721	.	3044	P49792	RBP2_HUMAN	V	2068;3044	ENSP00000283195:L3044V	ENSP00000283195:L3044V	L	+	1	2	RANBP2	108765511	0.955000	0.32602	1.000000	0.80357	0.922000	0.55478	0.403000	0.20982	0.385000	0.24970	0.456000	0.33151	TTA		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109399079	T	G	109399079	3	3	120	1	0	0	0	0	1	0	0	0	13034	1838	64	5	9240	5	RANBP2	2	109399079	Missense_Mutation	SNP	T	TCGA-AL-A5DJ-01A-11D-A26P-10	20485717	109399079	133800294	4	7335											
ZC3H6	376940	hgsc.bcm.edu	37	2	113079400	113079400	+	Silent	SNP	C	C	G			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr2:113079400C>G	ENST00000409871.1	+	8	1445	c.1044C>G	c.(1042-1044)tcC>tcG	p.S348S	ZC3H6_ENST00000343936.4_Silent_p.S348S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	348							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GTAAATTTTCCCATGATGATC	0.308																																																0													46	41	43					2																	113079400		1800	4066	5866	SO:0001819	synonymous_variant	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1044C>G	chr2.hg19:g.113079400C>G			A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	hg19	CCDS46393.1																																																																																				0.308	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		G	113079400	C	G	113079400	2	3	120	1	0	0	0	0	0	0	0	1	17576	610	22	4		4	ZC3H6	2	113079400	Silent	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10	3680321	113079400	130119973	5	7336											
CRYGD	1421	hgsc.bcm.edu	37	2	208988981	208988981	+	Missense_Mutation	SNP	G	G	A	rs200234608		TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr2:208988981G>A	ENST00000264376.4	-	2	134	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	36	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCCACGCGCGCCGAGTTGCA	0.652																																																0													11	13	12					2																	208988981		2179	4274	6453	SO:0001583	missense	1421				CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.107C>T	chr2.hg19:g.208988981G>A	ENSP00000264376:p.Ala36Val		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	hg19	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627591	0.28978	.	.	ENSG00000118231	ENST00000264376	T	0.72051	-0.62	4.35	3.19	0.36642	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.184420	0.36703	N	0.002444	T	0.29389	0.0732	N	0.00166	-1.94	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	10	0.32370	T	0.25	.	8.1681	0.31239	0.9021:0.0:0.0979:0.0	.	36	P07320	CRGD_HUMAN	V	36	ENSP00000264376:A36V	ENSP00000264376:A36V	A	-	2	0	CRYGD	208697226	0.280000	0.24249	0.067000	0.19924	0.966000	0.64601	2.073000	0.41519	0.695000	0.31675	-0.573000	0.04149	GCG		0.652	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		A	208988981	G	A	208988981	3	1	120	1	0	0	0	0	1	0	0	0	3919	1087	38	1	425	1	CRYGD	2	208988981	Missense_Mutation	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10	95909581	208988981	34210392	6	7337											
ZNF502	91392	hgsc.bcm.edu	37	3	44762365	44762365	+	Splice_Site	SNP	G	G	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr3:44762365G>T	ENST00000296091.4	+	4	312	c.56G>T	c.(55-57)gGc>gTc	p.G19V	ZNF502_ENST00000449836.1_Splice_Site_p.G19V|ZNF502_ENST00000436624.2_Splice_Site_p.G19V	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TTTCTTTCAGGCTGGGTAAAC	0.443																																																0													52	56	55					3																	44762365		2202	4300	6502	SO:0001630	splice_region_variant	91392			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.56-1G>T	chr3.hg19:g.44762365G>T				Missense_Mutation	SNP	ENST00000296091.4	hg19	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479567	0.26511	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.52983	3.17;3.17;3.17;0.64	4.77	-1.71	0.08133	.	.	.	.	.	T	0.18964	0.0455	N	0.08118	0	0.28556	N	0.9114	B	0.13145	0.007	B	0.11329	0.006	T	0.20840	-1.0263	8	.	.	.	.	0.412	0.00443	0.3647:0.1308:0.2221:0.2825	.	19	Q8TBZ5	ZN502_HUMAN	V	19	ENSP00000397390:G19V;ENSP00000296091:G19V;ENSP00000406469:G19V;ENSP00000401717:G19V	.	G	+	2	0	ZNF502	44737369	0.011000	0.17503	0.016000	0.15963	0.013000	0.08279	-0.325000	0.07976	-0.210000	0.10140	-0.140000	0.14226	GGC		0.443	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210	Missense_Mutation	T	44762365	G	T	44762365	5	4	120	1	0	0	0	0	0	0	1	0	17955	1217	42	4	62	4	ZNF502	3	44762365	Splice_Site	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10		44762365	153260065	7	7338											
QARS	5859	hgsc.bcm.edu	37	3	49135888	49135888	+	Missense_Mutation	SNP	A	A	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr3:49135888A>T	ENST00000306125.6	-	21	2319	c.1982T>A	c.(1981-1983)cTg>cAg	p.L661Q	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.L650Q			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	661					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GGTCACCTCCAGACTCTCTAC	0.562																																																0													54	57	56					3																	49135888		2203	4300	6503	SO:0001583	missense	5859			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1982T>A	chr3.hg19:g.49135888A>T	ENSP00000307567:p.Leu661Gln		B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	hg19	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130027	0.77549	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T	0.27402	1.67;1.67	5.8	5.8	0.92144	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.068752	0.64402	D	0.000013	T	0.67420	0.2891	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.77699	-0.2490	10	0.87932	D	0	-12.8433	15.8218	0.78654	1.0:0.0:0.0:0.0	.	650;661	B4DWJ2;P47897	.;SYQ_HUMAN	Q	181;661;650	ENSP00000307567:L661Q;ENSP00000390015:L650Q	ENSP00000307567:L661Q	L	-	2	0	QARS	49110892	1.000000	0.71417	0.870000	0.34147	0.599000	0.36880	8.794000	0.91867	2.226000	0.72624	0.459000	0.35465	CTG		0.562	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		T	49135888	A	T	49135888	3	4	120	1	0	0	0	0	1	0	0	0	12877	188	7	5	361	5	QARS	3	49135888	Missense_Mutation	SNP	A	TCGA-AL-A5DJ-01A-11D-A26P-10	4373523	49135888	148886542	8	7339											
PCBP4	57060	hgsc.bcm.edu	37	3	51994252	51994252	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr3:51994252C>T	ENST00000461554.1	-	7	671	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000395014.2_Missense_Mutation_p.G80S|PCBP4_ENST00000484633.1_Missense_Mutation_p.G114S|PCBP4_ENST00000471622.1_Missense_Mutation_p.G114S|PCBP4_ENST00000322099.7_Missense_Mutation_p.G114S|PCBP4_ENST00000395013.3_Missense_Mutation_p.G37S|PCBP4_ENST00000355852.2_Missense_Mutation_p.G114S|PCBP4_ENST00000428823.2_Missense_Mutation_p.G114S	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	114	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATCAGTGAGCCACACTGACTG	0.587																																																0													60	56	57					3																	51994252		2203	4300	6503	SO:0001583	missense	57060			AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"RNA binding protein MCG10", "LYST-interacting protein", "alphaCP-4 protein"	608503	"poly(rC)-binding protein 4"			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.340G>A	chr3.hg19:g.51994252C>T	ENSP00000417196:p.Gly114Ser		Q96AH7	Missense_Mutation	SNP	ENST00000461554.1	hg19	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	C	35	5.589850	0.96590	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000395013;ENST00000428823;ENST00000395014;ENST00000471622;ENST00000294192;ENST00000468324;ENST00000466412	T;T;T;T;T;T;T;T;T;T	0.49432	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.78	4.96	4.96	0.65561	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	M	0.84773	2.715	0.36967	D	0.89361	D;D;B;P;P;D;D	0.76494	0.966;0.971;0.0;0.954;0.954;0.999;0.998	D;D;B;P;D;D;D	0.87578	0.961;0.929;0.0;0.899;0.924;0.984;0.998	T	0.81929	-0.0708	10	0.87932	D	0	-5.5523	17.8155	0.88632	0.0:1.0:0.0:0.0	.	114;114;37;114;114;80;80	C9J0A4;P57723-2;B3KM64;E7EST1;P57723;Q9GZT1;Q9HCU2	.;.;.;.;PCBP4_HUMAN;.;.	S	114;114;114;114;37;114;80;114;114;114;114	ENSP00000348111:G114S;ENSP00000322341:G114S;ENSP00000417196:G114S;ENSP00000417100:G114S;ENSP00000378460:G37S;ENSP00000395030:G114S;ENSP00000378461:G80S;ENSP00000418925:G114S;ENSP00000419694:G114S;ENSP00000419557:G114S	ENSP00000294192:G114S	G	-	1	0	PCBP4	51969292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.751000	0.85126	2.281000	0.76405	0.563000	0.77884	GGC		0.587	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		T	51994252	C	T	51994252	3	4	120	1	0	0	0	0	1	0	0	0	11505	594	21	2	903	2	PCBP4	3	51994252	Missense_Mutation	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10	2858364	51994252	146028178	9	7340											
XRN1	54464	hgsc.bcm.edu	37	3	142031582	142031582	+	Missense_Mutation	SNP	G	G	A	rs552700387		TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr3:142031582G>A	ENST00000264951.4	-	41	4793	c.4676C>T	c.(4675-4677)tCg>tTg	p.S1559L	XRN1_ENST00000392981.2_Missense_Mutation_p.S1547L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1559					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAGATGAGACGACGAAGGCAT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		14945	0.0		0.0	False		,,,				2504	0.001															0													115	120	118					3																	142031582		2203	4300	6503	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4676C>T	chr3.hg19:g.142031582G>A	ENSP00000264951:p.Ser1559Leu		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	hg19	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472860	0.63737	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.34072	1.39;1.38	5.18	5.18	0.71444	.	0.358063	0.27052	N	0.021166	T	0.30386	0.0763	L	0.29908	0.895	0.80722	D	1	B;B	0.31680	0.335;0.226	B;B	0.27170	0.077;0.035	T	0.09751	-1.0660	10	0.51188	T	0.08	-1.1955	19.0575	0.93072	0.0:0.0:1.0:0.0	.	1547;1559	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	L	1559;1547	ENSP00000264951:S1559L;ENSP00000376707:S1547L	ENSP00000264951:S1559L	S	-	2	0	XRN1	143514272	0.997000	0.39634	0.956000	0.39512	0.965000	0.64279	6.412000	0.73303	2.554000	0.86153	0.655000	0.94253	TCG		0.443	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		A	142031582	G	A	142031582	3	1	120	1	0	0	0	0	1	0	0	0	17464	1059	37	1	452	1	XRN1	3	142031582	Missense_Mutation	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10	90037330	142031582	55990848	10	7341											
HS3ST1	9957	hgsc.bcm.edu	37	4	11401255	11401255	+	Silent	SNP	C	C	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr4:11401255C>T	ENST00000002596.5	-	2	1549	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	125					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CTTTGGGCGACGTGAAATACG	0.617																																																0													67	66	66					4																	11401255		2203	4300	6503	SO:0001819	synonymous_variant	9957			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.375G>A	chr4.hg19:g.11401255C>T			B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	hg19	CCDS3408.1																																																																																				0.617	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		T	11401255	C	T	11401255	2	4	120	1	0	0	0	0	0	0	0	1	7365	523	19	1		1	HS3ST1	4	11401255	Silent	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10		11401255	179753021	11	7342											
CLCN3	1182	hgsc.bcm.edu	37	4	170625204	170625204	+	Missense_Mutation	SNP	T	T	C			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr4:170625204T>C	ENST00000513761.1	+	10	2178	c.1619T>C	c.(1618-1620)aTt>aCt	p.I540T	CLCN3_ENST00000504131.2_Missense_Mutation_p.I523T|CLCN3_ENST00000347613.4_Missense_Mutation_p.I540T|CLCN3_ENST00000360642.3_Missense_Mutation_p.I513T	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	540					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GCAGGAAGGATTGTGGGGATT	0.507																																																0													232	194	207					4																	170625204		2203	4300	6503	SO:0001583	missense	1182			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1619T>C	chr4.hg19:g.170625204T>C	ENSP00000424603:p.Ile540Thr		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	hg19	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.381367	0.61845	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47	5.22	4.03	0.46877	Chloride channel, core (2);	0.087869	0.85682	D	0.000000	D	0.93897	0.8047	L	0.49350	1.555	0.80722	D	1	B;P;B;B;B	0.34462	0.318;0.454;0.27;0.318;0.05	P;P;B;P;B	0.45794	0.493;0.493;0.41;0.493;0.135	D	0.92858	0.6303	10	0.72032	D	0.01	-2.771	11.2757	0.49165	0.0:0.0726:0.0:0.9274	.	513;523;513;540;540	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	T	540;540;513;523;513	ENSP00000424603:I540T;ENSP00000261514:I540T;ENSP00000353857:I513T;ENSP00000424540:I523T;ENSP00000425323:I513T	ENSP00000261514:I540T	I	+	2	0	CLCN3	170861779	1.000000	0.71417	0.746000	0.31095	0.658000	0.38924	7.994000	0.88315	0.936000	0.37367	0.449000	0.29647	ATT		0.507	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			C	170625204	T	C	170625204	3	2	120	1	0	0	0	0	1	0	0	0	3466	1493	52	3	1653	3	CLCN3	4	170625204	Missense_Mutation	SNP	T	TCGA-AL-A5DJ-01A-11D-A26P-10	159223949	170625204	20529072	12	7343											
GFM2	84340	hgsc.bcm.edu	37	5	74018240	74018240	+	Missense_Mutation	SNP	T	T	G			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr5:74018240T>G	ENST00000296805.3	-	20	2632	c.2175A>C	c.(2173-2175)aaA>aaC	p.K725N	RNU6-658P_ENST00000384606.1_RNA|GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000345239.2_Missense_Mutation_p.K678N|GFM2_ENST00000509430.1_Missense_Mutation_p.K725N	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CAATAACAACTTTGTTGTCCT	0.388																																																0													146	144	144					5																	74018240		2203	4300	6503	SO:0001583	missense	84340			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.2175A>C	chr5.hg19:g.74018240T>G	ENSP00000296805:p.Lys725Asn			Missense_Mutation	SNP	ENST00000296805.3	hg19	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391627	0.83011	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430	T;T;T	0.63913	-0.07;-0.07;-0.07	5.96	4.8	0.61643	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.352841	0.38663	N	0.001604	T	0.69646	0.3134	M	0.68952	2.095	0.80722	D	1	B;P;B	0.50369	0.202;0.934;0.123	B;P;B	0.52646	0.185;0.705;0.282	T	0.72503	-0.4273	10	0.87932	D	0	-1.7306	11.9157	0.52763	0.0:0.0678:0.0:0.9322	.	723;678;725	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	N	725;678;547;725	ENSP00000296805:K725N;ENSP00000296804:K678N;ENSP00000427004:K725N	ENSP00000296805:K725N	K	-	3	2	GFM2	74053996	0.999000	0.42202	0.792000	0.32020	0.989000	0.77384	1.529000	0.35996	1.079000	0.41038	0.528000	0.53228	AAA		0.388	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		G	74018240	T	G	74018240	3	3	120	1	0	0	0	0	1	0	0	0	6344	1606	56	5	172	5	GFM2	5	74018240	Missense_Mutation	SNP	T	TCGA-AL-A5DJ-01A-11D-A26P-10		74018240	106897020	13	7344											
HIST1H2AE	3012	hgsc.bcm.edu	37	6	26217562	26217562	+	Silent	SNP	G	G	A			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr6:26217562G>A	ENST00000303910.2	+	1	398	c.360G>A	c.(358-360)aaG>aaA	p.K120K	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	120						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K120N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TGCCTAAGAAGACGGAGAGCC	0.542																																																1	Substitution - Missense(1)	lung(1)											55	56	55					6																	26217562		2203	4300	6503	SO:0001819	synonymous_variant	3012			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.360G>A	chr6.hg19:g.26217562G>A			P28001|Q76P63	Silent	SNP	ENST00000303910.2	hg19	CCDS4595.1																																																																																				0.542	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		A	26217562	G	A	26217562	2	1	120	1	0	0	0	0	0	0	0	1	7134	933	33	2		2	HIST1H2AE	6	26217562	Silent	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10		26217562	144897505	14	7345											
PNPLA1	285848	hgsc.bcm.edu	37	6	36238386	36238386	+	Silent	SNP	G	G	A			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr6:36238386G>A	ENST00000394571.2	+	1	150	c.150G>A	c.(148-150)gcG>gcA	p.A50A	PNPLA1_ENST00000312917.5_Intron|PNPLA1_ENST00000388715.3_Intron	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	50	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACCGCTTTGCGGGGACATCGG	0.652																																																0													16	21	19					6																	36238386		692	1591	2283	SO:0001819	synonymous_variant	285848				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.150G>A	chr6.hg19:g.36238386G>A			A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	ENST00000394571.2	hg19	CCDS54997.1																																																																																				0.652	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		A	36238386	G	A	36238386	2	1	120	1	0	0	0	0	0	0	0	1	12166	1103	39	1		1	PNPLA1	6	36238386	Silent	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10	10020824	36238386	134876681	15	7346											
TBP	6908	hgsc.bcm.edu	37	6	170871004	170871004	+	Silent	SNP	G	G	A			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000230354.6_Silent_p.Q60Q|TBP_ENST00000540980.1_Silent_p.Q40Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		Ggcagcagcagcaacaacaac	0.542																																																0													43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	chr6.hg19:g.170871004G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	hg19	CCDS5315.1																																																																																				0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871004	G	A	170871004	2	1	120	1	0	0	0	0	0	0	0	1	15649	962	34	2		2	TBP	6	170871004	Silent	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10	134632618	170871004	244063	16	7347											
ZNF679	168417	hgsc.bcm.edu	37	7	63720609	63720609	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr7:63720609C>A	ENST00000421025.1	+	3	319	c.50C>A	c.(49-51)aCa>aAa	p.T17K	ZNF679_ENST00000255746.4_Missense_Mutation_p.T17K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGACTGTTGACATTCAGAGAT	0.388																																																0													55	48	50					7																	63720609		692	1591	2283	SO:0001583	missense	168417			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.50C>A	chr7.hg19:g.63720609C>A	ENSP00000416809:p.Thr17Lys			Missense_Mutation	SNP	ENST00000421025.1	hg19	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	c	11.22	1.573678	0.28092	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.02974	4.09;4.09	0.195	0.195	0.15151	Krueppel-associated box (4);	.	.	.	.	T	0.09291	0.0229	M	0.82923	2.615	0.23126	N	0.998254	D	0.58268	0.982	P	0.57620	0.824	T	0.16808	-1.0390	9	0.62326	D	0.03	.	3.1108	0.06357	0.4763:0.5235:1.0E-4:1.0E-4	.	17	Q8IYX0	ZN679_HUMAN	K	17	ENSP00000416809:T17K;ENSP00000255746:T17K	ENSP00000255746:T17K	T	+	2	0	ZNF679	63358044	0.064000	0.20934	0.196000	0.23383	0.196000	0.23810	0.148000	0.16224	0.300000	0.22699	0.306000	0.20318	ACA		0.388	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		A	63720609	C	A	63720609	3	1	120	1	0	0	0	0	1	0	0	0	18091	478	17	4	56	4	ZNF679	7	63720609	Missense_Mutation	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10		63720609	95418054	17	7348											
NUP205	23165	hgsc.bcm.edu	37	7	135282924	135282924	+	Missense_Mutation	SNP	G	G	A	rs375295025		TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr7:135282924G>A	ENST00000285968.6	+	15	2269	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	748					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTACGATTCCGTACAAGAGCT	0.428																																																0								G	HIS/ARG	0,4406		0,0,2203	159	164	162		2243	5.7	1	7		162	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUP205	NM_015135.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	748/2013	135282924	1,13005	2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2243G>A	chr7.hg19:g.135282924G>A	ENSP00000285968:p.Arg748His		A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	hg19	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490520	0.44249	0.0	1.16E-4	ENSG00000155561	ENST00000285968	T	0.32753	1.44	5.73	5.73	0.89815	.	0.098316	0.64402	D	0.000001	T	0.21387	0.0515	N	0.13098	0.295	0.80722	D	1	B	0.31655	0.334	B	0.24394	0.053	T	0.03473	-1.1033	10	0.40728	T	0.16	-22.9195	19.8824	0.96903	0.0:0.0:1.0:0.0	.	748	Q92621	NU205_HUMAN	H	748	ENSP00000285968:R748H	ENSP00000285968:R748H	R	+	2	0	NUP205	134933464	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.954000	0.76001	2.696000	0.92011	0.591000	0.81541	CGT		0.428	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			A	135282924	G	A	135282924	3	1	120	1	0	0	0	0	1	0	0	0	10761	1145	40	1	2301	1	NUP205	7	135282924	Missense_Mutation	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10	71562315	135282924	23855739	18	7349											
MLL3	58508	hgsc.bcm.edu	37	7	151859226	151859226	+	Missense_Mutation	SNP	C	C	A			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr7:151859226C>A	ENST00000262189.6	-	43	11654	c.11436G>T	c.(11434-11436)gaG>gaT	p.E3812D	KMT2C_ENST00000355193.2_Missense_Mutation_p.E3812D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3812					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGTTCTGCTTCTCAACTAGTT	0.328																																																0													44	48	47					7																	151859226		2201	4298	6499	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11436G>T	chr7.hg19:g.151859226C>A	ENSP00000262189:p.Glu3812Asp		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	hg19	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.21|11.21	1.570903|1.570903	0.28003|0.28003	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877;ENST00000418061|ENST00000360104	D;D;D|.	0.89050|.	-1.81;-1.8;-2.46|.	5.51|5.51	2.72|2.72	0.32119|0.32119	.|.	0.311841|0.311841	0.22245|0.22245	U|U	0.062629|0.062629	T|.	0.40719|.	0.1128|.	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	B;B;B|.	0.15141|.	0.012;0.01;0.01|.	B;B;B|.	0.13407|.	0.006;0.009;0.009|.	T|.	0.08027|.	-1.0742|.	10|.	0.18276|0.12103	T|T	0.48|0.63	.|.	6.7615|6.7615	0.23542|0.23542	0.0:0.5573:0.2457:0.197|0.0:0.5573:0.2457:0.197	.|.	3812;2873;3812|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	D|X	3812;3812;398;8|1318	ENSP00000262189:E3812D;ENSP00000347325:E3812D;ENSP00000410411:E398D|.	ENSP00000262189:E3812D|ENSP00000353218:E1318X	E|E	-|-	3|1	2|0	MLL3|MLL3	151490159|151490159	0.998000|0.998000	0.40836|0.40836	0.728000|0.728000	0.30774|0.30774	0.974000|0.974000	0.67602|0.67602	0.397000|0.397000	0.20883|0.20883	0.689000|0.689000	0.31550|0.31550	0.650000|0.650000	0.86243|0.86243	GAG|GAA		0.328	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151859226	C	A	151859226	3	1	120	1	0	0	0	0	1	0	0	0	9624	912	32	4	3367	4	MLL3	7	151859226	Missense_Mutation	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10	16576302	151859226	7279437	19	7350											
KCNK9	51305	hgsc.bcm.edu	37	8	140630623	140630623	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr8:140630623C>T	ENST00000520439.1	-	2	1066	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.E335K	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	335					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GAGATCTCCTCGATCTTGTAA	0.552																																																0													115	113	113					8																	140630623		2203	4300	6503	SO:0001583	missense	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.1003G>A	chr8.hg19:g.140630623C>T	ENSP00000430676:p.Glu335Lys		Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	hg19	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013189	0.54468	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.16324	2.35;2.35;2.35	5.85	5.85	0.93711	.	0.062019	0.64402	D	0.000005	T	0.19446	0.0467	M	0.70595	2.14	0.58432	D	0.999999	P	0.40083	0.702	B	0.34038	0.174	T	0.11494	-1.0585	10	0.07325	T	0.83	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	335	Q9NPC2	KCNK9_HUMAN	K	335	ENSP00000429847:E335K;ENSP00000302166:E335K;ENSP00000430676:E335K	ENSP00000302166:E335K	E	-	1	0	KCNK9	140699805	1.000000	0.71417	0.969000	0.41365	0.752000	0.42762	5.595000	0.67563	2.753000	0.94483	0.655000	0.94253	GAG		0.552	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		T	140630623	C	T	140630623	3	4	120	1	0	0	0	0	1	0	0	0	8074	893	31	1	125	1	KCNK9	8	140630623	Missense_Mutation	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10		140630623	5733399	20	7351											
ST6GALNAC4	27090	hgsc.bcm.edu	37	9	130674884	130674884	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr9:130674884C>T	ENST00000335791.5	-	4	549	c.274G>A	c.(274-276)Gct>Act	p.A92T	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.A8T	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	92					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						TCGATCTCAGCACCCAGGCCT	0.682																																																0													31	26	27					9																	130674884		2203	4299	6502	SO:0001583	missense	27090			AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"Sialyltransferases"	17846	protein-coding gene	gene with protein product		606378	"sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.274G>A	chr9.hg19:g.130674884C>T	ENSP00000336733:p.Ala92Thr		Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	hg19	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947277	0.34377	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.30714	1.52;1.52;1.52	5.58	-4.4	0.03600	.	0.720248	0.13564	N	0.378592	T	0.14874	0.0359	N	0.26092	0.79	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.13926	-1.0491	10	0.35671	T	0.21	-23.1112	4.2604	0.10739	0.0897:0.1894:0.4714:0.2496	.	92	Q9H4F1	SIA7D_HUMAN	T	8;92;8;8	ENSP00000336733:A92T;ENSP00000340382:A8T;ENSP00000355130:A8T	ENSP00000336733:A92T	A	-	1	0	ST6GALNAC4	129714705	0.000000	0.05858	0.001000	0.08648	0.554000	0.35429	-0.081000	0.11321	-0.632000	0.05553	-0.379000	0.06801	GCT		0.682	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		T	130674884	C	T	130674884	3	4	120	1	0	0	0	0	1	0	0	0	15231	710	25	2	646	2	ST6GALNAC4	9	130674884	Missense_Mutation	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10		130674884	10538547	21	7352											
OR51S1	119692	hgsc.bcm.edu	37	11	4869479	4869479	+	Silent	SNP	A	A	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr11:4869479A>T	ENST00000322101.2	-	1	1035	c.960T>A	c.(958-960)ggT>ggA	p.G320G	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGAGCACCACCCACCTTCC	0.448																																																0													142	135	138					11																	4869479		2201	4298	6499	SO:0001819	synonymous_variant	119692			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.960T>A	chr11.hg19:g.4869479A>T			B9EGZ1|Q6IFI2	Silent	SNP	ENST00000322101.2	hg19	CCDS31362.1																																																																																				0.448	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		T	4869479	A	T	4869479	2	4	120	1	0	0	0	0	0	0	0	1	11107	146	6	5		5	OR51S1	11	4869479	Silent	SNP	A	TCGA-AL-A5DJ-01A-11D-A26P-10		4869479	130137037	22	7353											
C11orf45	219833	hgsc.bcm.edu	37	11	128772504	128772504	+	Missense_Mutation	SNP	C	C	T	rs545751134		TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr11:128772504C>T	ENST00000524878.1	-	4	556	c.386G>A	c.(385-387)cGc>cAc	p.R129H	C11orf45_ENST00000530168.1_5'UTR|KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000310799.3_Missense_Mutation_p.R129H|KCNJ5_ENST00000529694.1_Intron			Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	129						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		GTAGCCCAGGCGGCCCTCTCT	0.607																																																0													67	59	61					11																	128772504		2201	4297	6498	SO:0001583	missense	219833			AK125634	CCDS8478.1	11q24.3	2012-05-30			ENSG00000174370	ENSG00000174370			28584	protein-coding gene	gene with protein product							Standard	NM_001256088		Approved	MGC35558, FLJ43646	uc001qeu.3	Q8TAV5	OTTHUMG00000165796	ENST00000524878.1:c.386G>A	chr11.hg19:g.128772504C>T	ENSP00000431922:p.Arg129His		B2RAD0	Missense_Mutation	SNP	ENST00000524878.1	hg19	CCDS8478.1	.	.	.	.	.	.	.	.	.	.	C	8.914	0.959417	0.18507	.	.	ENSG00000174370	ENST00000310799;ENST00000524878	.	.	.	2.51	-4.9	0.03094	.	.	.	.	.	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18808	-1.0325	8	0.87932	D	0	.	0.223	0.00170	0.2826:0.2756:0.207:0.2348	.	129	Q8TAV5	CK045_HUMAN	H	129	.	ENSP00000307879:R129H	R	-	2	0	C11orf45	128277714	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.211000	0.02997	-1.303000	0.02332	-2.745000	0.00126	CGC		0.607	C11orf45-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386243.1	NM_145013		T	128772504	C	T	128772504	3	4	120	1	0	0	0	0	1	0	0	0	1644	768	27	1	55	1	C11orf45	11	128772504	Missense_Mutation	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10	123903025	128772504	6234012	23	7354											
CD163	9332	hgsc.bcm.edu	37	12	7651490	7651490	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr12:7651490G>A	ENST00000359156.4	-	4	954	c.752C>T	c.(751-753)gCt>gTt	p.A251V	CD163_ENST00000541972.1_Missense_Mutation_p.A239V|CD163_ENST00000396620.3_Missense_Mutation_p.A251V|CD163_ENST00000432237.2_Missense_Mutation_p.A251V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	251	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGCATCCTCAGCATGATCACA	0.433																																																0													180	168	172					12																	7651490		2203	4300	6503	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.752C>T	chr12.hg19:g.7651490G>A	ENSP00000352071:p.Ala251Val		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	hg19	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061841	0.36373	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.16	3.02	0.34903	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.445290	0.04133	N	0.318256	T	0.30355	0.0762	L	0.27975	0.815	0.09310	N	0.999992	P;B;P	0.45428	0.772;0.225;0.858	B;B;B	0.43701	0.428;0.047;0.428	T	0.19614	-1.0300	10	0.41790	T	0.15	.	5.6612	0.17670	0.0941:0.0:0.4895:0.4164	.	251;251;251	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	V	251;239;251;251	ENSP00000352071:A251V;ENSP00000444071:A239V;ENSP00000379863:A251V;ENSP00000403885:A251V	ENSP00000352071:A251V	A	-	2	0	CD163	7542757	0.000000	0.05858	0.278000	0.24718	0.945000	0.59286	-0.236000	0.09003	1.300000	0.44818	0.650000	0.86243	GCT		0.433	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		A	7651490	G	A	7651490	3	1	120	1	0	0	0	0	1	0	0	0	2969	971	34	2	2770	2	CD163	12	7651490	Missense_Mutation	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10		7651490	126200405	24	7355											
PIK3C2G	5288	hgsc.bcm.edu	37	12	18478009	18478009	+	Silent	SNP	C	C	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr12:18478009C>T	ENST00000266497.5	+	7	1287	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	PIK3C2G_ENST00000538779.1_Silent_p.L417L|PIK3C2G_ENST00000433979.1_Silent_p.L417L|PIK3C2G_ENST00000535651.1_Silent_p.L417L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	417					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGACTTCCACCTGAAATACCT	0.299																																																0													83	81	82					12																	18478009		1800	4061	5861	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1249C>T	chr12.hg19:g.18478009C>T			A1L3U0	Silent	SNP	ENST00000266497.5	hg19	CCDS44839.1																																																																																				0.299	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18478009	C	T	18478009	2	4	120	1	0	0	0	0	0	0	0	1	11913	680	24	2		2	PIK3C2G	12	18478009	Silent	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10	10826519	18478009	115373886	25	7356											
C14orf104	55172	hgsc.bcm.edu	37	14	50092296	50092296	+	Missense_Mutation	SNP	G	G	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr14:50092296G>T	ENST00000298292.8	-	3	2558	c.2478C>A	c.(2476-2478)ttC>ttA	p.F826L	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Missense_Mutation_p.F778L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	826					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TCTGAAAACTGAATGCACAAT	0.308																																																0													99	91	94					14																	50092296		2202	4300	6502	SO:0001583	missense	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2478C>A	chr14.hg19:g.50092296G>T	ENSP00000298292:p.Phe826Leu		B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	hg19	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339347	0.81911	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.08282	3.11;3.11	5.9	5.0	0.66597	.	0.163612	0.40302	N	0.001129	T	0.21145	0.0509	M	0.66939	2.045	0.33550	D	0.596045	D;D	0.65815	0.995;0.991	P;P	0.59424	0.857;0.795	T	0.09143	-1.0688	10	0.72032	D	0.01	.	10.6878	0.45854	0.1484:0.0:0.8516:0.0	.	778;826	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	L	826;778	ENSP00000298292:F826L;ENSP00000384862:F778L	ENSP00000298292:F826L	F	-	3	2	DNAAF2	49162046	0.911000	0.30947	1.000000	0.80357	0.850000	0.48378	0.932000	0.28884	2.808000	0.96608	0.551000	0.68910	TTC		0.308	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			T	50092296	G	T	50092296	3	4	120	1	0	0	0	0	1	0	0	0	1738	1281	45	4	39	4	C14orf104	14	50092296	Missense_Mutation	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10		50092296	57257244	26	7357											
DYX1C1	161582	hgsc.bcm.edu	37	15	55731768	55731768	+	Silent	SNP	T	T	C			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr15:55731768T>C	ENST00000321149.3	-	7	1162	c.795A>G	c.(793-795)aaA>aaG	p.K265K	DYX1C1_ENST00000448430.2_Silent_p.K265K|DYX1C1_ENST00000380679.1_Silent_p.K265K|DYX1C1_ENST00000348518.3_Silent_p.K265K|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Silent_p.K265K	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	265					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CCTCAGCTTGTTTGTGTAGCC	0.348																																																0													66	67	66					15																	55731768		2193	4292	6485	SO:0001819	synonymous_variant	161582				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.795A>G	chr15.hg19:g.55731768T>C			Q6P5Y9|Q8N1S6	Silent	SNP	ENST00000321149.3	hg19	CCDS10154.1																																																																																				0.348	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		C	55731768	T	C	55731768	2	2	120	1	0	0	0	0	0	0	0	1	4864	1722	60	3		3	DYX1C1	15	55731768	Silent	SNP	T	TCGA-AL-A5DJ-01A-11D-A26P-10		55731768	46799624	27	7358											
ADCY9	115	hgsc.bcm.edu	37	16	4163953	4163953	+	Silent	SNP	G	G	A			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr16:4163953G>A	ENST00000294016.3	-	2	2029	c.1491C>T	c.(1489-1491)tgC>tgT	p.C497C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	497	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCAGGATGCCGCAAAGGACGG	0.562																																																0													122	126	125					16																	4163953		2197	4300	6497	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1491C>T	chr16.hg19:g.4163953G>A			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	hg19	CCDS32382.1																																																																																				0.562	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4163953	G	A	4163953	2	1	120	1	0	0	0	0	0	0	0	1	301	1079	38	1		1	ADCY9	16	4163953	Silent	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10		4163953	86190800	28	7359											
ADCY9	115	hgsc.bcm.edu	37	16	4164162	4164162	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr16:4164162G>A	ENST00000294016.3	-	2	1820	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	428	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCACACAGGCGGTCGAAGCGA	0.572																																																0													67	70	69					16																	4164162		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1282C>T	chr16.hg19:g.4164162G>A	ENSP00000294016:p.Arg428Cys		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	hg19	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210746	0.58343	.	.	ENSG00000162104	ENST00000294016	D	0.81996	-1.56	5.28	5.28	0.74379	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.061240	0.64402	D	0.000003	D	0.90518	0.7029	M	0.81614	2.55	0.58432	D	0.999996	D	0.76494	0.999	P	0.59761	0.863	D	0.91803	0.5453	10	0.87932	D	0	.	18.9505	0.92640	0.0:0.0:1.0:0.0	.	428	O60503	ADCY9_HUMAN	C	428	ENSP00000294016:R428C	ENSP00000294016:R428C	R	-	1	0	ADCY9	4104163	1.000000	0.71417	0.993000	0.49108	0.907000	0.53573	3.072000	0.50049	2.481000	0.83766	0.555000	0.69702	CGC		0.572	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4164162	G	A	4164162	3	1	120	1	0	0	0	0	1	0	0	0	301	1116	39	1	2819	1	ADCY9	16	4164162	Missense_Mutation	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10	209	4164162	86190591	29	7360											
NDRG4	65009	hgsc.bcm.edu	37	16	58541744	58541744	+	Missense_Mutation	SNP	C	C	T	rs200391051		TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr16:58541744C>T	ENST00000570248.1	+	9	759	c.653C>T	c.(652-654)aCg>aTg	p.T218M	NDRG4_ENST00000566192.1_Missense_Mutation_p.T218M|NDRG4_ENST00000394279.2_Missense_Mutation_p.T250M|NDRG4_ENST00000258187.5_Missense_Mutation_p.T250M|NDRG4_ENST00000569923.1_Missense_Mutation_p.T163M|NDRG4_ENST00000562999.1_Missense_Mutation_p.T218M|NDRG4_ENST00000568640.1_Missense_Mutation_p.T236M|NDRG4_ENST00000394282.4_Missense_Mutation_p.T270M|NDRG4_ENST00000356752.4_Missense_Mutation_p.T248M|NDRG4_ENST00000563799.1_Missense_Mutation_p.T236M	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	218					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CGGCCTGGAACGGTGCCCAAT	0.667																																																0								C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4396		0,0,2198	68	66	67		809,743,707,653,653,749,749	4.6	1	16		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	NDRG4	NM_001130487.1,NM_001242833.1,NM_001242834.1,NM_001242835.1,NM_001242836.1,NM_020465.3,NM_022910.3	81,81,81,81,81,81,81	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	270/392,248/370,236/358,218/353,218/340,250/372,250/372	58541744	1,12995	2198	4300	6498	SO:0001583	missense	65009			AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.653C>T	chr16.hg19:g.58541744C>T	ENSP00000457659:p.Thr218Met		B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	ENST00000570248.1	hg19	CCDS58466.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947408	0.73672	0.0	1.16E-4	ENSG00000103034	ENST00000258187;ENST00000421602;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.59	4.63	0.57726	.	0.097461	0.64402	D	0.000001	T	0.30135	0.0755	L	0.34521	1.04	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.979;0.999;1.0;0.999	D;D;D;P;P;P;P	0.68192	0.956;0.956;0.927;0.636;0.861;0.897;0.855	T	0.02917	-1.1094	10	0.52906	T	0.07	-0.368	15.0366	0.71751	0.143:0.857:0.0:0.0	.	236;248;236;218;218;270;250	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	M	250;163;270;250;248	ENSP00000258187:T250M;ENSP00000377823:T270M;ENSP00000377820:T250M;ENSP00000349193:T248M	ENSP00000258187:T250M	T	+	2	0	NDRG4	57099245	1.000000	0.71417	0.980000	0.43619	0.680000	0.39746	4.398000	0.59697	1.340000	0.45581	0.655000	0.94253	ACG		0.667	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			T	58541744	C	T	58541744	3	4	120	1	0	0	0	0	1	0	0	0	10256	536	19	1	851	1	NDRG4	16	58541744	Missense_Mutation	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10	54377582	58541744	31813009	30	7361											
SMARCA4	6597	hgsc.bcm.edu	37	19	11129655	11129655	+	Missense_Mutation	SNP	G	G	A			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr19:11129655G>A	ENST00000429416.3	+	18	2742	c.2461G>A	c.(2461-2463)Gag>Aag	p.E821K	SMARCA4_ENST00000590574.1_Missense_Mutation_p.E821K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E821K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E821K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E821K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E821K|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E821K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E821K|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E821K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	821	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E821K(3)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGGGCGTACGAGTTTGACAA	0.557			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	4	Substitution - Missense(3)|Unknown(1)	central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)											173	148	157					19																	11129655		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2461G>A	chr19.hg19:g.11129655G>A	ENSP00000395654:p.Glu821Lys		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317520	0.81469	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	4.95	4.95	0.65309	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	H	0.97291	3.975	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;1.0;1.0;0.999;1.0;1.0	D	0.99624	1.0984	10	0.87932	D	0	-27.2359	17.1078	0.86668	0.0:0.0:1.0:0.0	.	821;821;821;821;821;821;821	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	K	821;821;885;821;821;821;821;821	ENSP00000395654:E821K;ENSP00000350720:E821K;ENSP00000343896:E821K;ENSP00000445036:E821K;ENSP00000392837:E821K;ENSP00000397783:E821K;ENSP00000414727:E821K	ENSP00000343896:E821K	E	+	1	0	SMARCA4	10990655	1.000000	0.71417	0.924000	0.36721	0.213000	0.24496	9.625000	0.98406	2.571000	0.86741	0.591000	0.81541	GAG		0.557	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		A	11129655	G	A	11129655	3	1	120	1	0	0	0	0	1	0	0	0	14776	1059	37	1	2523	1	SMARCA4	19	11129655	Missense_Mutation	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10		11129655	47999328	31	7362											
GCDH	2639	hgsc.bcm.edu	37	19	13002761	13002761	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr19:13002761C>T	ENST00000222214.5	+	4	455	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	GCDH_ENST00000591470.1_Missense_Mutation_p.R82C|GCDH_ENST00000457854.1_Missense_Mutation_p.R82C|GCDH_ENST00000422947.2_Silent_p.L19L			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	82					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	ACTCATGCCTCGCATCCTGTT	0.637																																					GBM(123;875 1636 7726 16444 26754)											0													79	63	68					19																	13002761		2203	4300	6503	SO:0001583	missense	2639			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.244C>T	chr19.hg19:g.13002761C>T	ENSP00000222214:p.Arg82Cys		A8K2Z2|O14719	Silent	SNP	ENST00000222214.5	hg19	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478034	0.96291	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816	D;D	0.99722	-6.53;-6.53	5.31	5.31	0.75309	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.054691	0.85682	D	0.000000	D	0.99859	0.9934	H	0.98866	4.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.931;0.985;0.985	D	0.96498	0.9369	10	0.87932	D	0	.	16.4613	0.84055	0.0:1.0:0.0:0.0	.	70;82;82	B4DQF2;Q92947;Q92947-2	.;GCDH_HUMAN;.	C	82;82;70	ENSP00000394872:R82C;ENSP00000222214:R82C	ENSP00000222214:R82C	R	+	1	0	GCDH	12863761	0.996000	0.38824	0.997000	0.53966	0.993000	0.82548	3.457000	0.53007	2.488000	0.83962	0.563000	0.77884	CGC		0.637	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			T	13002761	C	T	13002761	3	4	120	1	0	0	0	0	1	0	0	0	6289	884	31	1	254	1	GCDH	19	13002761	Missense_Mutation	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10	1873106	13002761	46126222	32	7363											
HAO1	54363	hgsc.bcm.edu	37	20	7894923	7894923	+	Missense_Mutation	SNP	G	G	A	rs200785017		TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr20:7894923G>A	ENST00000378789.3	-	3	484	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	145	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCTGCCTGCCGCACTAGCTTC	0.517																																																0													198	121	147					20																	7894923		2203	4300	6503	SO:0001583	missense	54363			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.433C>T	chr20.hg19:g.7894923G>A	ENSP00000368066:p.Arg145Trp		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	hg19	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218570	0.39201	.	.	ENSG00000101323	ENST00000378789	T	0.34072	1.38	6.17	0.404	0.16355	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.915368	0.09558	N	0.786011	T	0.61438	0.2347	M	0.92923	3.36	0.09310	N	1	D;D	0.56287	0.975;0.975	P;P	0.61592	0.891;0.891	T	0.48570	-0.9024	10	0.87932	D	0	0.281	6.8057	0.23777	0.0708:0.0792:0.4783:0.3717	.	145;145	A8K058;Q9UJM8	.;HAOX1_HUMAN	W	145	ENSP00000368066:R145W	ENSP00000368066:R145W	R	-	1	2	HAO1	7842923	0.057000	0.20700	0.316000	0.25252	0.058000	0.15608	0.662000	0.25038	0.398000	0.25338	0.655000	0.94253	CGG		0.517	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			A	7894923	G	A	7894923	3	1	120	1	0	0	0	0	1	0	0	0	6953	1086	38	1	703	1	HAO1	20	7894923	Missense_Mutation	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10		7894923	55130597	33	7364											
BIK	638	hgsc.bcm.edu	37	22	43523734	43523734	+	Missense_Mutation	SNP	G	G	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chr22:43523734G>T	ENST00000216115.2	+	3	256	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	65					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GGCCTGCATCGGGGACGAGAT	0.677																																																0													24	20	21					22																	43523734		2147	4197	6344	SO:0001583	missense	638			U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.193G>T	chr22.hg19:g.43523734G>T	ENSP00000216115:p.Gly65Trp		Q16582|Q6FH93	Missense_Mutation	SNP	ENST00000216115.2	hg19	CCDS14044.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480785	0.44044	.	.	ENSG00000100290	ENST00000216115	T	0.40476	1.03	3.8	3.8	0.43715	Apoptosis regulator, Bcl-2, BH3 motif, conserved site (1);	0.441185	0.16893	N	0.195260	T	0.50514	0.1620	L	0.29908	0.895	0.37261	D	0.907003	D	0.89917	1.0	D	0.91635	0.999	T	0.57312	-0.7833	10	0.87932	D	0	-25.3198	11.4735	0.50284	0.0:0.0:1.0:0.0	.	65	Q13323	BIK_HUMAN	W	65	ENSP00000216115:G65W	ENSP00000216115:G65W	G	+	1	0	BIK	41853678	0.100000	0.21855	0.806000	0.32338	0.168000	0.22595	2.576000	0.46033	2.410000	0.81850	0.561000	0.74099	GGG		0.677	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		T	43523734	G	T	43523734	3	4	120	1	0	0	0	0	1	0	0	0	1431	1116	39	4	199	4	BIK	22	43523734	Missense_Mutation	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10		43523734	7780832	34	7365											
MAGEC1	9947	hgsc.bcm.edu	37	X	140996146	140996146	+	Missense_Mutation	SNP	G	G	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chrX:140996146G>T	ENST00000285879.4	+	4	3242	c.2956G>T	c.(2956-2958)Ggg>Tgg	p.G986W	MAGEC1_ENST00000406005.2_Missense_Mutation_p.G53W	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	986	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CACCTCTGAGGGGTGTCTGAG	0.478										HNSCC(15;0.026)																																						0													112	105	107					X																	140996146		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2956G>T	chrX.hg19:g.140996146G>T	ENSP00000285879:p.Gly986Trp		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	hg19	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	5.313	0.243052	0.10077	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05513	3.43;3.43	0.626	0.626	0.17670	.	.	.	.	.	T	0.27489	0.0675	M	0.91972	3.26	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.02950	-1.1090	8	0.87932	D	0	.	.	.	.	.	986	O60732	MAGC1_HUMAN	W	986;53	ENSP00000285879:G986W;ENSP00000385500:G53W	ENSP00000285879:G986W	G	+	1	0	MAGEC1	140823812	0.000000	0.05858	0.005000	0.12908	0.012000	0.07955	0.510000	0.22723	0.564000	0.29238	0.279000	0.19357	GGG		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140996146	G	T	140996146	3	4	120	1	0	0	0	0	1	0	0	0	9182	1232	43	4	2962	4	MAGEC1	23	140996146	Missense_Mutation	SNP	G	TCGA-AL-A5DJ-01A-11D-A26P-10		140996146	14274414	35	7366											
GABRA3	2556	hgsc.bcm.edu	37	X	151532942	151532942	+	Missense_Mutation	SNP	C	C	T			TCGA-AL-A5DJ-01A-11D-A26P-10	TCGA-AL-A5DJ-10A-01D-A26P-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b4f515ce-5bee-4e40-a66a-01f41e92181e	7c64233c-871d-4df4-8c4d-d60713a4ac1e	g.chrX:151532942C>T	ENST00000370314.4	-	2	339	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	GABRA3_ENST00000535043.1_Missense_Mutation_p.R34Q	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	34					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGGTTCTTGTCGTCTTGATTC	0.443																																					NSCLC(142;2578 2613 10251 16743)											0													177	168	171					X																	151532942		2203	4300	6503	SO:0001583	missense	2556				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.101G>A	chrX.hg19:g.151532942C>T	ENSP00000359337:p.Arg34Gln		Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	hg19	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770224	0.49680	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.71103	-0.54;-0.54;-0.54	5.01	5.01	0.66863	.	2.366800	0.01730	N	0.028823	T	0.75664	0.3880	N	0.19112	0.55	0.27649	N	0.947442	D	0.58620	0.983	P	0.61201	0.885	T	0.65651	-0.6116	10	0.37606	T	0.19	.	12.6556	0.56786	0.0:1.0:0.0:0.0	.	34	P34903	GBRA3_HUMAN	Q	34	ENSP00000359337:R34Q;ENSP00000359334:R34Q;ENSP00000443527:R34Q	ENSP00000359334:R34Q	R	-	2	0	GABRA3	151283598	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.443000	0.52907	2.039000	0.60335	0.600000	0.82982	CGA		0.443	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		T	151532942	C	T	151532942	3	4	120	1	0	0	0	0	1	0	0	0	6164	884	31	1	1413	1	GABRA3	23	151532942	Missense_Mutation	SNP	C	TCGA-AL-A5DJ-01A-11D-A26P-10	10536796	151532942	3737618	36	7367											
SKI	6497	broad.mit.edu	37	1	2235396	2235397	+	Frame_Shift_Ins	INS	-	-	G	rs150033567	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:2235396_2235397insG	ENST00000378536.4	+	4	1401_1402	c.1329_1330insG	c.(1330-1332)gagfs	p.E444fs		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	444					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CCCGGGCCCCCGAGCCTCTCGC	0.718																																					Ovarian(177;144 1678 13697 20086 27838 40755)											0																																										SO:0001589	frameshift_variant	6497			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1330dupG	1.37:g.2235397_2235397dupG	ENSP00000367797:p.Glu444fs		Q5SYT7	Frame_Shift_Ins	INS	ENST00000378536.4	37	CCDS39.1																																																																																				0.718	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		G	2235397	-	G	2235396	7	5	121	1	0	1	1	0	0	0	0	0	14363	639	23	0	1343	0	SKI	1	2235396	Frame_Shift_Ins	INS	-	TCGA-AS-3777-01A-01D-0966-08		2235396	247015225	1	7368											
CD2	914	broad.mit.edu	37	1	117303238	117303238	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr1:117303238G>T	ENST00000369478.3	+	3	705	c.597G>T	c.(595-597)gaG>gaT	p.E199D		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	199	Ig-like C2-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CCAGTGTCGAGCCTGTCAGCT	0.557																																					NSCLC(14;263 555 26380 43512 51332)											0													80	71	74					1																	117303238		2203	4300	6503	SO:0001583	missense	914			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.597G>T	1.37:g.117303238G>T	ENSP00000358490:p.Glu199Asp		Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	CCDS889.1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566757	0.13560	.	.	ENSG00000116824	ENST00000369478	T	0.24723	1.84	5.13	-9.09	0.00717	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	2.019570	0.02240	N	0.065691	T	0.04137	0.0115	N	0.24115	0.695	0.19300	N	0.999976	B;B	0.23128	0.08;0.015	B;B	0.23574	0.047;0.024	T	0.17868	-1.0355	10	0.62326	D	0.03	1.3583	1.3779	0.02224	0.4495:0.2047:0.1473:0.1985	.	199;199	B4DVN2;P06729	.;CD2_HUMAN	D	199	ENSP00000358490:E199D	ENSP00000358490:E199D	E	+	3	2	CD2	117104761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.908000	0.01587	-1.554000	0.01700	-0.150000	0.13652	GAG		0.557	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		T	117303238	G	T	117303238	3	4	121	1	0	0	0	0	1	0	0	0	2981	962	34	4	607	4	CD2	1	117303238	Missense_Mutation	SNP	G	TCGA-AS-3777-01A-01D-0966-08	115067842	117303238	131947383	2	7369											
ARNT	405	broad.mit.edu	37	1	150804293	150804293	+	Splice_Site	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:150804293C>T	ENST00000358595.5	-	10	1156		c.e10+1		ARNT_ENST00000515192.1_Splice_Site|ARNT_ENST00000505755.1_Splice_Site|ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000468970.1_5'UTR	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator						cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTTTCTTACCTGCTGGGGG	0.438			T	ETV6	AML																																		Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	0													58	60	59					1																	150804293		2203	4300	6503	SO:0001630	splice_region_variant	405			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"Basic helix-loop-helix proteins"	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.955+1G>A	1.37:g.150804293C>T			B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Splice_Site	SNP	ENST00000358595.5	37	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533461	0.64972	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2947	0.90141	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARNT	149070917	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.627000	0.67784	2.289000	0.77006	0.557000	0.71058	.		0.438	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2		Intron	T	150804293	C	T	150804293	5	4	121	1	0	0	0	0	0	0	1	0	965	521	18	2	1465	2	ARNT	1	150804293	Splice_Site	SNP	C	TCGA-AS-3777-01A-01D-0966-08	33501055	150804293	98446328	3	7370											
NUP210L	91181	broad.mit.edu	37	1	154067513	154067513	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:154067513C>T	ENST00000368559.3	-	15	2156	c.2085G>A	c.(2083-2085)gcG>gcA	p.A695A	NUP210L_ENST00000271854.3_Silent_p.A695A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	695					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTCTTCTCCGCATTCAATT	0.473																																																0													86	80	82					1																	154067513		1845	4097	5942	SO:0001819	synonymous_variant	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2085G>A	1.37:g.154067513C>T			E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	CCDS41399.1																																																																																				0.473	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		T	154067513	C	T	154067513	2	4	121	1	0	0	0	0	0	0	0	1	10763	639	23	1		1	NUP210L	1	154067513	Silent	SNP	C	TCGA-AS-3777-01A-01D-0966-08	3263220	154067513	95183108	4	7371											
MNDA	4332	broad.mit.edu	37	1	158815659	158815659	+	Missense_Mutation	SNP	T	T	C	rs374060185		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:158815659T>C	ENST00000368141.4	+	5	1114	c.853T>C	c.(853-855)Tct>Cct	p.S285P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	285	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAGCATCATCTGTGTCTGA	0.348																																																0								T	PRO/SER	0,4406		0,0,2203	73	76	75		853	-1.5	0	1		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	MNDA	NM_002432.1	74	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	285/408	158815659	1,13005	2203	4300	6503	SO:0001583	missense	4332			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.853T>C	1.37:g.158815659T>C	ENSP00000357123:p.Ser285Pro			Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016095	0.54468	0.0	1.16E-4	ENSG00000163563	ENST00000368141	T	0.15952	2.38	4.28	-1.55	0.08558	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	1.640470	0.03858	N	0.273478	T	0.18759	0.0450	M	0.73217	2.22	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.06427	-1.0827	10	0.59425	D	0.04	-0.9067	1.6694	0.02808	0.1633:0.0984:0.3364:0.4018	.	285	P41218	MNDA_HUMAN	P	285	ENSP00000357123:S285P	ENSP00000357123:S285P	S	+	1	0	MNDA	157082283	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-0.834000	0.04391	-0.056000	0.13221	0.533000	0.62120	TCT		0.348	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		C	158815659	T	C	158815659	3	2	121	1	0	0	0	0	1	0	0	0	9678	1435	50	3	867	3	MNDA	1	158815659	Missense_Mutation	SNP	T	TCGA-AS-3777-01A-01D-0966-08	4748146	158815659	90434962	5	7372											
NID1	4811	broad.mit.edu	37	1	236212062	236212062	+	Silent	SNP	G	G	A	rs201727792		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr1:236212062G>A	ENST00000264187.6	-	2	535	c.453C>T	c.(451-453)agC>agT	p.S151S	NID1_ENST00000366595.3_Silent_p.S151S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	151	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.S151S(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CAACCACCGCGCTACTAGGCT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18425	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	large_intestine(1)											64	62	63					1																	236212062		2203	4300	6503	SO:0001819	synonymous_variant	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.453C>T	1.37:g.236212062G>A			Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																				0.577	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		A	236212062	G	A	236212062	2	1	121	1	0	0	0	0	0	0	0	1	10416	1078	38	1		1	NID1	1	236212062	Silent	SNP	G	TCGA-AS-3777-01A-01D-0966-08	77396403	236212062	13038559	6	7373											
QPCT	25797	broad.mit.edu	37	2	37586796	37586796	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:37586796C>T	ENST00000338415.3	+	3	499	c.341C>T	c.(340-342)cCc>cTc	p.P114L	QPCT_ENST00000537448.1_Missense_Mutation_p.P65L	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	114					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				AGTCAGACACCCTATGGGTAC	0.443																																																0													95	79	84					2																	37586796		2203	4300	6503	SO:0001583	missense	25797			X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.341C>T	2.37:g.37586796C>T	ENSP00000344829:p.Pro114Leu		Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640023	0.87760	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.32753	1.44;1.44;1.44	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74509	-0.3642	10	0.87932	D	0	-3.9293	19.4608	0.94916	0.0:1.0:0.0:0.0	.	65;114	Q16769-2;Q16769	.;QPCT_HUMAN	L	114;65;65	ENSP00000344829:P114L;ENSP00000385391:P65L;ENSP00000441606:P65L	ENSP00000344829:P114L	P	+	2	0	QPCT	37440300	1.000000	0.71417	0.972000	0.41901	0.710000	0.40934	7.668000	0.83897	2.587000	0.87381	0.655000	0.94253	CCC		0.443	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			T	37586796	C	T	37586796	3	4	121	1	0	0	0	0	1	0	0	0	12880	623	22	2	351	2	QPCT	2	37586796	Missense_Mutation	SNP	C	TCGA-AS-3777-01A-01D-0966-08		37586796	205612577	7	7374											
PELI1	57162	broad.mit.edu	37	2	64323337	64323337	+	Silent	SNP	T	T	C	rs374621766	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:64323337T>C	ENST00000358912.4	-	6	1054	c.612A>G	c.(610-612)ggA>ggG	p.G204G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	204					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CTCTCCATATTCCAGGCTTGG	0.438																																																0													171	156	161					2																	64323337		2203	4300	6503	SO:0001819	synonymous_variant	57162				CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"Pellino homologs"	8827	protein-coding gene	gene with protein product		614797	"pellino (Drosophila) homolog 1", "pellino homolog 1 (Drosophila)"			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.612A>G	2.37:g.64323337T>C			Q96SM0|Q9GZY5|Q9HCX0	Silent	SNP	ENST00000358912.4	37	CCDS1876.1																																																																																				0.438	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		C	64323337	T	C	64323337	2	2	121	1	0	0	0	0	0	0	0	1	11723	1770	62	3		3	PELI1	2	64323337	Silent	SNP	T	TCGA-AS-3777-01A-01D-0966-08	26736541	64323337	178876036	8	7375											
ARHGAP25	9938	broad.mit.edu	37	2	69046326	69046326	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:69046326G>A	ENST00000295381.3	+	9	1491	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D351N|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D52N|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D319N|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D352N|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D359N|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.D352N	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	358					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAAGTCCAAGGATATACCCCT	0.498																																																0													145	155	151					2																	69046326		2203	4300	6503	SO:0001583	missense	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1072G>A	2.37:g.69046326G>A	ENSP00000295381:p.Asp358Asn		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	G	25.5	4.640632	0.87859	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	T;T;T;T;T;T;T	0.25912	2.6;2.6;2.3;2.6;2.6;2.54;1.77	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.94	D;D;D;D;D;P	0.87578	0.972;0.995;0.995;0.995;0.998;0.76	T	0.19063	-1.0317	10	0.51188	T	0.08	.	18.0845	0.89453	0.0:0.0:1.0:0.0	.	319;359;352;351;352;358	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	N	358;359;319;351;352;352;352;343;52	ENSP00000295381:D358N;ENSP00000386911:D359N;ENSP00000420583:D319N;ENSP00000386863:D351N;ENSP00000386241:D352N;ENSP00000417139:D352N;ENSP00000417467:D52N	ENSP00000295381:D358N	D	+	1	0	ARHGAP25	68899830	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	6.673000	0.74482	2.817000	0.96982	0.563000	0.77884	GAT		0.498	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		A	69046326	G	A	69046326	3	1	121	1	0	0	0	0	1	0	0	0	874	1174	41	2	1149	2	ARHGAP25	2	69046326	Missense_Mutation	SNP	G	TCGA-AS-3777-01A-01D-0966-08	4722989	69046326	174153047	9	7376											
SCN1A	6323	broad.mit.edu	37	2	166903319	166903321	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr2:166903319_166903321delCTG	ENST00000303395.4	-	9	1335_1337	c.1336_1338delCAG	c.(1336-1338)cagdel	p.Q446del	SCN1A_ENST00000423058.2_In_Frame_Del_p.Q446del|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_In_Frame_Del_p.Q446del|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	446					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTCAATCATCTGCTGAAATTCG	0.458																																																0																																										SO:0001651	inframe_deletion	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1336_1338delCAG	2.37:g.166903322_166903324delCTG	ENSP00000303540:p.Gln446del		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	In_Frame_Del	DEL	ENST00000303395.4	37	CCDS54413.1																																																																																				0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		-	166903321	CTG	-	166903319	7	5	121	1	0	1	0	1	0	0	0	0	13920	912	32	0	4763	0	SCN1A	2	166903319	In_Frame_Del	DEL	CTG	TCGA-AS-3777-01A-01D-0966-08	97856993	166903319	76296054	10	7377											
ANKRD28	23243	broad.mit.edu	37	3	15726732	15726732	+	Splice_Site	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:15726732C>A	ENST00000399451.2	-	21	2667		c.e21+1		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTATACTTAACCATTGTAGCA	0.373																																																0													149	137	141					3																	15726732		1960	4156	6116	SO:0001630	splice_region_variant	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2299+1G>T	3.37:g.15726732C>A			B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	SNP	ENST00000399451.2	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731918	0.89390	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0007	0.97408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD28	15701736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.726000	0.93360	0.650000	0.86243	.		0.373	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron	A	15726732	C	A	15726732	5	1	121	1	0	0	0	0	0	0	1	0	656	521	18	4	893	4	ANKRD28	3	15726732	Splice_Site	SNP	C	TCGA-AS-3777-01A-01D-0966-08		15726732	182295698	11	7378											
RAB43	339122	broad.mit.edu	37	3	128840237	128840237	+	Silent	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:128840237C>A	ENST00000315150.5	-	1	396	c.96G>T	c.(94-96)acG>acT	p.T32T	RAB43_ENST00000393307.1_Silent_p.T32T|RAB43_ENST00000476465.1_Silent_p.T32T|RAB43_ENST00000393308.1_Silent_p.T32T|RP11-434H6.6_ENST00000608909.1_RNA|ISY1-RAB43_ENST00000418265.1_Intron|RAB43_ENST00000393304.1_Silent_p.T32T|RAB43_ENST00000393305.1_Silent_p.T32T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	32					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCACCACGCACGTCTTGCCCA	0.667																																																0													26	25	25					3																	128840237		2203	4300	6503	SO:0001819	synonymous_variant	339122			AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"RAB, member RAS oncogene"	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.96G>T	3.37:g.128840237C>A			A8K4P9|E9PBQ0	Silent	SNP	ENST00000315150.5	37	CCDS33850.1																																																																																				0.667	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714		A	128840237	C	A	128840237	2	1	121	1	0	0	0	0	0	0	0	1	12951	523	19	4		4	RAB43	3	128840237	Silent	SNP	C	TCGA-AS-3777-01A-01D-0966-08	113113505	128840237	69182193	12	7379											
TFRC	7037	broad.mit.edu	37	3	195778819	195778819	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr3:195778819C>A	ENST00000360110.4	-	19	2446	c.2277G>T	c.(2275-2277)gaG>gaT	p.E759D	TFRC_ENST00000392396.3_Missense_Mutation_p.E759D|TFRC_ENST00000535031.1_Missense_Mutation_p.E477D|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.E678D	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	759	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	ACATTTAAAACTCATTGTCAA	0.438			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	0													90	83	85					3																	195778819		2203	4300	6503	SO:0001583	missense	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.2277G>T	3.37:g.195778819C>A	ENSP00000353224:p.Glu759Asp		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838828	0.32513	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.58060	0.76;0.81;0.76;0.36	6.06	0.294	0.15747	.	0.348037	0.35320	N	0.003282	T	0.37265	0.0997	L	0.52364	1.645	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14309	-1.0477	10	0.44086	T	0.13	-10.9423	1.8738	0.03214	0.1306:0.3389:0.1286:0.4019	.	759	P02786	TFR1_HUMAN	D	759;678;759;477	ENSP00000353224:E759D;ENSP00000390133:E678D;ENSP00000376197:E759D;ENSP00000437753:E477D	ENSP00000353224:E759D	E	-	3	2	TFRC	197263216	0.812000	0.29077	0.992000	0.48379	0.983000	0.72400	-0.091000	0.11146	0.095000	0.17434	0.655000	0.94253	GAG		0.438	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			A	195778819	C	A	195778819	3	1	121	1	0	0	0	0	1	0	0	0	15817	564	20	4	9	4	TFRC	3	195778819	Missense_Mutation	SNP	C	TCGA-AS-3777-01A-01D-0966-08	66938582	195778819	2243611	13	7380											
KIAA1530	57654	broad.mit.edu	37	4	1377656	1377656	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr4:1377656A>C	ENST00000389851.4	+	13	2411	c.1964A>C	c.(1963-1965)tAc>tCc	p.Y655S	UVSSA_ENST00000511563.1_Missense_Mutation_p.Y206S|UVSSA_ENST00000511216.1_Missense_Mutation_p.Y655S|UVSSA_ENST00000512728.1_Missense_Mutation_p.Y206S|UVSSA_ENST00000507531.1_Missense_Mutation_p.Y655S	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	655					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										AAGAGGAGGTACCCCAGCCTC	0.602																																																0													116	98	104					4																	1377656		2203	4300	6503	SO:0001583	missense	57654			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1964A>C	4.37:g.1377656A>C	ENSP00000374501:p.Tyr655Ser		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.510896	0.44660	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.45668	1.37;1.37;1.37;0.89;0.89	5.04	0.778	0.18543	.	0.451013	0.26650	N	0.023211	T	0.31918	0.0812	L	0.32530	0.975	0.42251	D	0.991971	P	0.51653	0.947	P	0.47346	0.544	T	0.06427	-1.0827	10	0.49607	T	0.09	.	5.9476	0.19227	0.6744:0.0:0.0715:0.2541	.	655	Q2YD98	K1530_HUMAN	S	655;655;655;206;206	ENSP00000425130:Y655S;ENSP00000374501:Y655S;ENSP00000421741:Y655S;ENSP00000423340:Y206S;ENSP00000427701:Y206S	ENSP00000374501:Y655S	Y	+	2	0	KIAA1530	1367656	0.993000	0.37304	0.005000	0.12908	0.171000	0.22731	3.180000	0.50895	0.318000	0.23185	0.449000	0.29647	TAC		0.602	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		C	1377656	A	C	1377656	3	2	121	1	0	0	0	0	1	0	0	0	8243	391	14	5	2010	5	KIAA1530	4	1377656	Missense_Mutation	SNP	A	TCGA-AS-3777-01A-01D-0966-08		1377656	189776620	14	7381											
ARAP2	116984	broad.mit.edu	37	4	36069579	36069579	+	Missense_Mutation	SNP	G	G	A	rs377015356		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr4:36069579G>A	ENST00000303965.4	-	33	5554	c.5065C>T	c.(5065-5067)Cgg>Tgg	p.R1689W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1689					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTCTTGACCGTTGTAGAACC	0.358																																																0													97	98	98					4																	36069579		2203	4300	6503	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.5065C>T	4.37:g.36069579G>A	ENSP00000302895:p.Arg1689Trp		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069954	0.55539	.	.	ENSG00000047365	ENST00000303965	T	0.10573	2.86	5.79	2.62	0.31277	.	0.081885	0.48286	D	0.000197	T	0.19327	0.0464	L	0.32530	0.975	0.26832	N	0.968552	D	0.89917	1.0	D	0.65573	0.936	T	0.02391	-1.1166	10	0.87932	D	0	.	12.1751	0.54180	0.0:0.0:0.5359:0.4641	.	1689	Q8WZ64	ARAP2_HUMAN	W	1689	ENSP00000302895:R1689W	ENSP00000302895:R1689W	R	-	1	2	ARAP2	35745974	0.543000	0.26434	0.703000	0.30354	0.768000	0.43524	1.288000	0.33296	0.691000	0.31592	0.650000	0.86243	CGG		0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		A	36069579	G	A	36069579	3	1	121	1	0	0	0	0	1	0	0	0	839	1144	40	1	53	1	ARAP2	4	36069579	Missense_Mutation	SNP	G	TCGA-AS-3777-01A-01D-0966-08	34691923	36069579	155084697	15	7382											
SLC12A2	6558	broad.mit.edu	37	5	127486938	127486938	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr5:127486938C>T	ENST00000262461.2	+	14	2302	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R705C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	705					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GTTAGGATGGCGTCCTGCATT	0.348																																																0													209	201	204					5																	127486938		2203	4300	6503	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2113C>T	5.37:g.127486938C>T	ENSP00000262461:p.Arg705Cys		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845853	0.71603	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99532	-6.1;-6.1	4.86	4.86	0.63082	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.96735	0.9542	10	0.87932	D	0	.	18.5665	0.91119	0.0:1.0:0.0:0.0	.	705;705	P55011-3;P55011	.;S12A2_HUMAN	C	705	ENSP00000262461:R705C;ENSP00000340878:R705C	ENSP00000262461:R705C	R	+	1	0	SLC12A2	127514837	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.339000	0.43965	2.715000	0.92844	0.655000	0.94253	CGT		0.348	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		T	127486938	C	T	127486938	3	4	121	1	0	0	0	0	1	0	0	0	14389	768	27	1	2167	1	SLC12A2	5	127486938	Missense_Mutation	SNP	C	TCGA-AS-3777-01A-01D-0966-08		127486938	53428322	16	7383											
C6orf10	10665	broad.mit.edu	37	6	32260989	32260989	+	Silent	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr6:32260989T>C	ENST00000447241.2	-	23	1633	c.1461A>G	c.(1459-1461)caA>caG	p.Q487Q	C6orf10_ENST00000375015.4_Silent_p.Q486Q|C6orf10_ENST00000527965.1_Silent_p.Q471Q|C6orf10_ENST00000375007.4_Silent_p.Q485Q|C6orf10_ENST00000533191.1_Silent_p.Q485Q|C6orf10_ENST00000442822.2_Intron	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	487	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCTTCTTTTCTTGGGCTTCCT	0.378																																																0													206	230	222					6																	32260989		1511	2709	4220	SO:0001819	synonymous_variant	10665			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"testis specific basic protein"					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1461A>G	6.37:g.32260989T>C			A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Silent	SNP	ENST00000447241.2	37	CCDS34422.1																																																																																				0.378	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		C	32260989	T	C	32260989	2	2	121	1	0	0	0	0	0	0	0	1	2319	1606	56	3		3	C6orf10	6	32260989	Silent	SNP	T	TCGA-AS-3777-01A-01D-0966-08		32260989	138854078	17	7384											
DEPDC7	91614	broad.mit.edu	37	11	33050304	33050304	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:33050304G>T	ENST00000241051.3	+	4	840	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	DEPDC7_ENST00000311388.3_Missense_Mutation_p.D241Y	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	250					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAACTATCTGGATCGAGGGAT	0.403																																																0													119	113	115					11																	33050304		1908	4132	6040	SO:0001583	missense	91614				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.748G>T	11.37:g.33050304G>T	ENSP00000241051:p.Asp250Tyr		G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899934	0.72754	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.16743	2.32;2.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.20306	-1.0279	10	0.38643	T	0.18	-22.4418	20.6593	0.99626	0.0:0.0:1.0:0.0	.	241;250	G5E941;Q96QD5	.;DEPD7_HUMAN	Y	250;241	ENSP00000241051:D250Y;ENSP00000308971:D241Y	ENSP00000241051:D250Y	D	+	1	0	DEPDC7	33006880	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	8.983000	0.93477	2.885000	0.99019	0.655000	0.94253	GAT		0.403	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		T	33050304	G	T	33050304	3	4	121	1	0	0	0	0	1	0	0	0	4446	1174	41	4	812	4	DEPDC7	11	33050304	Missense_Mutation	SNP	G	TCGA-AS-3777-01A-01D-0966-08		33050304	101956212	18	7385											
AHNAK	79026	broad.mit.edu	37	11	62291443	62291443	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:62291443G>C	ENST00000378024.4	-	5	10720	c.10446C>G	c.(10444-10446)ttC>ttG	p.F3482L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3482					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGACACACTGAATTTGGGCA	0.453																																																0													116	112	113					11																	62291443		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10446C>G	11.37:g.62291443G>C	ENSP00000367263:p.Phe3482Leu		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	6.102	0.387035	0.11581	.	.	ENSG00000124942	ENST00000378024	T	0.01572	4.76	4.51	-5.87	0.02297	.	.	.	.	.	T	0.05273	0.0140	L	0.52573	1.65	0.25647	N	0.986134	D	0.63880	0.993	D	0.73708	0.981	T	0.00527	-1.1688	9	0.20519	T	0.43	.	14.5003	0.67716	0.7933:0.0:0.2067:0.0	.	3482	Q09666	AHNK_HUMAN	L	3482	ENSP00000367263:F3482L	ENSP00000367263:F3482L	F	-	3	2	AHNAK	62048019	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-1.148000	0.03185	-1.335000	0.02241	-0.410000	0.06199	TTC		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		C	62291443	G	C	62291443	3	2	121	1	0	0	0	0	1	0	0	0	414	1281	45	4	7346	4	AHNAK	11	62291443	Missense_Mutation	SNP	G	TCGA-AS-3777-01A-01D-0966-08	29241139	62291443	72715073	19	7386											
DSCAML1	57453	broad.mit.edu	37	11	117392010	117392010	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:117392010G>A	ENST00000321322.6	-	6	1229	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R140C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	350	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCGTGTTGCGATACCAGCGG	0.627																																																0													90	76	81					11																	117392010		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1228C>T	11.37:g.117392010G>A	ENSP00000315465:p.Arg410Cys		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237731	0.79800	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.34667	1.35;1.35	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71787	0.3381	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	T	0.82180	-0.0585	9	0.87932	D	0	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	140;350	G3V1B5;Q8TD84	.;DSCL1_HUMAN	C	140;410;117	ENSP00000434335:R140C;ENSP00000315465:R410C	ENSP00000315465:R410C	R	-	1	0	DSCAML1	116897220	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.371000	0.66150	2.417000	0.82017	0.609000	0.83330	CGC		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		A	117392010	G	A	117392010	3	1	121	1	0	0	0	0	1	0	0	0	4771	1058	37	1	5225	1	DSCAML1	11	117392010	Missense_Mutation	SNP	G	TCGA-AS-3777-01A-01D-0966-08	55100567	117392010	17614506	20	7387											
TECTA	7007	broad.mit.edu	37	11	120984322	120984322	+	Missense_Mutation	SNP	G	G	A	rs150098939	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr11:120984322G>A	ENST00000392793.1	+	6	956	c.685G>A	c.(685-687)Gag>Aag	p.E229K	TECTA_ENST00000264037.2_Missense_Mutation_p.E229K			O75443	TECTA_HUMAN	tectorin alpha	229	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGAACCCCCGAGATCGTGAA	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17512	0.0		0.0	False		,,,				2504	0.0															0								G	LYS/GLU	4,4402	8.1+/-20.4	0,4,2199	61	63	63		685	5.2	1	11	dbSNP_134	63	0,8598		0,0,4299	yes	missense	TECTA	NM_005422.2	56	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	benign	229/2156	120984322	4,13000	2203	4299	6502	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.685G>A	11.37:g.120984322G>A	ENSP00000376543:p.Glu229Lys			Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	20.5	4.005473	0.74932	9.08E-4	0.0	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.72167	-0.63;-0.63	5.2	5.2	0.72013	Nidogen, extracellular domain (3);	0.169550	0.50627	D	0.000108	T	0.68513	0.3009	L	0.59436	1.845	0.50813	D	0.999894	B	0.28820	0.224	B	0.25405	0.06	T	0.66064	-0.6016	10	0.37606	T	0.19	.	18.9316	0.92568	0.0:0.0:1.0:0.0	.	229	O75443	TECTA_HUMAN	K	229	ENSP00000376543:E229K;ENSP00000264037:E229K	ENSP00000264037:E229K	E	+	1	0	TECTA	120489532	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.691000	0.91804	0.655000	0.94253	GAG		0.478	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		A	120984322	G	A	120984322	3	1	121	1	0	0	0	0	1	0	0	0	15752	1059	37	1	703	1	TECTA	11	120984322	Missense_Mutation	SNP	G	TCGA-AS-3777-01A-01D-0966-08	3592312	120984322	14022194	21	7388											
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000544134.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																																0										3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436			U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC				RNA	INS	ENST00000261406.6	37																																																																																					0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	C	7080213	-	C	7080212	8	5	121	1	0	1	1	0	0	0	1	0	5092	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-AS-3777-01A-01D-0966-08		7080212	126771683	22	7389											
KRT85	3891	broad.mit.edu	37	12	52760942	52760942	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:52760942C>T	ENST00000257901.3	-	1	323	c.248G>A	c.(247-249)cGc>cAc	p.R83H	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	83	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCGGAGCGGTAGCCGAA	0.692																																																0													38	46	43					12																	52760942		2203	4300	6503	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.248G>A	12.37:g.52760942C>T	ENSP00000257901:p.Arg83His		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862149	0.51482	.	.	ENSG00000135443	ENST00000257901	T	0.75367	-0.93	4.74	4.74	0.60224	.	0.000000	0.56097	D	0.000033	T	0.81250	0.4783	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.76686	-0.2868	10	0.15499	T	0.54	.	11.7323	0.51744	0.0:0.919:0.0:0.081	.	83	P78386	KRT85_HUMAN	H	83	ENSP00000257901:R83H	ENSP00000257901:R83H	R	-	2	0	KRT85	51047209	0.501000	0.26099	0.998000	0.56505	0.252000	0.25951	1.493000	0.35605	2.619000	0.88677	0.561000	0.74099	CGC		0.692	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		T	52760942	C	T	52760942	3	4	121	1	0	0	0	0	1	0	0	0	8501	768	27	1	1311	1	KRT85	12	52760942	Missense_Mutation	SNP	C	TCGA-AS-3777-01A-01D-0966-08	45680730	52760942	81090953	23	7390											
ITGA5	3678	broad.mit.edu	37	12	54797447	54797447	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:54797447C>T	ENST00000293379.4	-	17	1999	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	580					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTCTCGAGCCCCATTCTGG	0.627																																																0													86	83	84					12																	54797447		2203	4300	6503	SO:0001583	missense	3678				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1738G>A	12.37:g.54797447C>T	ENSP00000293379:p.Ala580Thr		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687621	0.88639	.	.	ENSG00000161638	ENST00000293379	T	0.46063	0.88	5.22	4.32	0.51571	Integrin alpha-2 (1);	0.190561	0.45126	D	0.000384	T	0.43500	0.1250	L	0.29908	0.895	0.37377	D	0.911877	D	0.55172	0.97	P	0.53401	0.725	T	0.51116	-0.8746	10	0.49607	T	0.09	.	13.8101	0.63256	0.0:0.8451:0.1549:0.0	.	580	P08648	ITA5_HUMAN	T	580	ENSP00000293379:A580T	ENSP00000293379:A580T	A	-	1	0	ITGA5	53083714	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	5.192000	0.65115	1.323000	0.45263	0.561000	0.74099	GCT		0.627	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			T	54797447	C	T	54797447	3	4	121	1	0	0	0	0	1	0	0	0	7881	739	26	2	1467	2	ITGA5	12	54797447	Missense_Mutation	SNP	C	TCGA-AS-3777-01A-01D-0966-08	2036505	54797447	79054448	24	7391											
UBC	7316	broad.mit.edu	37	12	125398295	125398296	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr12:125398295_125398296delAG	ENST00000538617.1	-	3	338_339	c.22_23delCT	c.(22-24)ctgfs	p.L8fs	UBC_ENST00000536661.1_5'UTR|UBC_ENST00000536769.1_Frame_Shift_Del_p.L8fs|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Frame_Shift_Del_p.L8fs|UBC_ENST00000339647.5_Frame_Shift_Del_p.L8fs			P0CG48	UBC_HUMAN	ubiquitin C	388	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTACCAGTCAGAGTCTTCACG	0.45																																																0																																										SO:0001589	frameshift_variant	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.22_23delCT	12.37:g.125398297_125398298delAG	ENSP00000443053:p.Leu8fs		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Frame_Shift_Del	DEL	ENST00000538617.1	37																																																																																					0.45	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		-	125398296	AG	-	125398295	7	5	121	1	0	1	0	1	0	0	0	0	16847	188	7	0	2038	0	UBC	12	125398295	Frame_Shift_Del	DEL	AG	TCGA-AS-3777-01A-01D-0966-08	70600848	125398295	8453600	25	7392											
FREM2	341640	broad.mit.edu	37	13	39265811	39265811	+	Silent	SNP	C	C	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:39265811C>T	ENST00000280481.7	+	1	4546	c.4330C>T	c.(4330-4332)Cta>Tta	p.L1444L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1444					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGACCTACTAAGCACTAG	0.473																																																0													146	118	128					13																	39265811		2203	4300	6503	SO:0001819	synonymous_variant	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4330C>T	13.37:g.39265811C>T			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.473	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		T	39265811	C	T	39265811	2	4	121	1	0	0	0	0	0	0	0	1	6047	564	20	2		2	FREM2	13	39265811	Silent	SNP	C	TCGA-AS-3777-01A-01D-0966-08		39265811	75904067	26	7393											
MYO16	23026	broad.mit.edu	37	13	109379873	109379873	+	Missense_Mutation	SNP	C	C	T	rs201650171		TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr13:109379873C>T	ENST00000357550.2	+	3	424	c.383C>T	c.(382-384)aCg>aTg	p.T128M	MYO16_ENST00000251041.5_Missense_Mutation_p.T128M|MYO16_ENST00000356711.2_Missense_Mutation_p.T128M	NM_001198950.1	NP_001185879.1			myosin XVI									p.T128M(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTTCTGGACGCCCATGCAC	0.418													.|||	1	0.000199681	0.0	0.0	5008	,	,		19002	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	endometrium(1)											210	185	193					13																	109379873		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.383C>T	13.37:g.109379873C>T	ENSP00000350160:p.Thr128Met			Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.24	3.788984	0.70337	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.75154	-0.91;-0.91;-0.91	4.68	4.68	0.58851	Ankyrin repeat-containing domain (4);	0.200080	0.23353	U	0.049115	D	0.90752	0.7097	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.939;0.984	D	0.93997	0.7272	9	.	.	.	.	16.9776	0.86317	0.0:1.0:0.0:0.0	.	128;128	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	M	128	ENSP00000349145:T128M;ENSP00000350160:T128M;ENSP00000251041:T128M	.	T	+	2	0	MYO16	108177874	1.000000	0.71417	0.966000	0.40874	0.704000	0.40688	6.738000	0.74822	2.310000	0.77875	0.462000	0.41574	ACG		0.418	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		T	109379873	C	T	109379873	3	4	121	1	0	0	0	0	1	0	0	0	10066	536	19	1	393	1	MYO16	13	109379873	Missense_Mutation	SNP	C	TCGA-AS-3777-01A-01D-0966-08	70114062	109379873	5790005	27	7394											
MAX	4149	broad.mit.edu	37	14	65544756	65544756	+	Splice_Site	SNP	T	T	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr14:65544756T>C	ENST00000358664.4	-	4	302		c.e4-2		MAX_ENST00000556443.1_Splice_Site|MAX_ENST00000341653.2_Intron|MAX_ENST00000284165.6_Splice_Site|MAX_ENST00000555419.1_Splice_Site|MAX_ENST00000358402.4_Splice_Site|MAX_ENST00000556979.1_Splice_Site|MAX_ENST00000557277.1_Splice_Site|MAX_ENST00000555667.1_Splice_Site|MAX_ENST00000555932.1_Intron|MAX_ENST00000557746.1_Splice_Site	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X						cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CCGGGATGCCTGTGGCAATAT	0.498																																																0													91	80	84					14																	65544756		2203	4300	6503	SO:0001630	splice_region_variant	4149				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.172-2A>G	14.37:g.65544756T>C			A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Splice_Site	SNP	ENST00000358664.4	37	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212460	0.58452	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0085	0.64481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAX	64614509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.947000	0.87758	1.932000	0.55993	0.460000	0.39030	.		0.498	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957	Intron	C	65544756	T	C	65544756	5	2	121	1	0	0	0	0	0	0	1	0	9341	1594	55	3	536	3	MAX	14	65544756	Splice_Site	SNP	T	TCGA-AS-3777-01A-01D-0966-08		65544756	41804784	28	7395											
ARMC5	79798	broad.mit.edu	37	16	31476071	31476071	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr16:31476071A>C	ENST00000563544.1	+	5	2273	c.1727A>C	c.(1726-1728)aAc>aCc	p.N576T	ARMC5_ENST00000408912.3_Missense_Mutation_p.N671T|ARMC5_ENST00000412665.2_Missense_Mutation_p.N220T|ARMC5_ENST00000457010.2_Missense_Mutation_p.N576T|ARMC5_ENST00000268314.4_Missense_Mutation_p.N576T|ARMC5_ENST00000538189.1_Missense_Mutation_p.N608T			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	576										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTCACCTGCAACCCTGCCTGC	0.721																																																0													12	14	14					16																	31476071		2130	4238	6368	SO:0001583	missense	79798			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1727A>C	16.37:g.31476071A>C	ENSP00000456877:p.Asn576Thr		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.020639	0.93462	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.093397	0.64402	D	0.000001	T	0.45716	0.1356	L	0.53249	1.67	0.43032	D	0.994608	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.998;0.999	D;D;D;D;D	0.71870	0.961;0.943;0.975;0.943;0.964	T	0.43956	-0.9359	10	0.87932	D	0	-19.6247	13.9395	0.64046	1.0:0.0:0.0:0.0	.	608;608;671;576;576	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	T	671;608;576;576;220	ENSP00000386125:N671T;ENSP00000443995:N608T;ENSP00000268314:N576T;ENSP00000399561:N576T;ENSP00000400183:N220T	ENSP00000268314:N576T	N	+	2	0	ARMC5	31383572	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.922000	0.63404	2.184000	0.69523	0.383000	0.25322	AAC		0.721	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		C	31476071	A	C	31476071	3	2	121	1	0	0	0	0	1	0	0	0	954	43	2	5	1741	5	ARMC5	16	31476071	Missense_Mutation	SNP	A	TCGA-AS-3777-01A-01D-0966-08		31476071	58878682	29	7396											
SCARF1	8578	broad.mit.edu	37	17	1548956	1548957	+	In_Frame_Ins	INS	-	-	AGC	rs142617742|rs371158488	byFrequency	TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	4d253e9a-9140-4429-b6ee-974f840c42cb	g.chr17:1548956_1548957insAGC	ENST00000263071.4	-	1	84_85	c.35_36insGCT	c.(34-36)ctc>ctGCTc	p.12_12L>LL	SCARF1_ENST00000348987.3_In_Frame_Ins_p.12_12L>LL|SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_In_Frame_Ins_p.12_12L>LL	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	12					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCGAGTCCAGAGCAGCAGCAG	0.698														199	0.0397364	0.0741	0.0115	5008	,	,		16590	0.001		0.0199	False		,,,				2504	0.0736															0									,,	296,3916		17,262,1827					,,	4	0.8		dbSNP_119	19	149,8047		4,141,3953	no	coding,coding,coding	SCARF1	NM_145352.2,NM_145350.1,NM_003693.2	,,	21,403,5780	A1A1,A1R,RR		1.818,7.0275,3.5864	,,	,,		445,11963				SO:0001652	inframe_insertion	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.33_35dupGCT	17.37:g.1548963_1548965dupAGC	ENSP00000263071:p.Leu12dup		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	In_Frame_Ins	INS	ENST00000263071.4	37	CCDS11007.1																																																																																				0.698	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		AGC	1548957	-	AGC	1548956	7	5	121	1	0	1	1	0	0	0	0	0	13889	929	33	0	2500	0	SCARF1	17	1548956	In_Frame_Ins	INS	-	TCGA-AS-3777-01A-01D-0966-08		1548956	79646254	30	7397											
MYH2	4620	broad.mit.edu	37	17	10435042	10435042	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:10435042G>A	ENST00000245503.5	-	22	2989	c.2605C>T	c.(2605-2607)Ctt>Ttt	p.L869F	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.L869F|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	869					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						GACTTGGCAAGTTCGTCTTTA	0.423																																																0													142	138	139					17																	10435042		2203	4300	6503	SO:0001583	missense	4620				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.2605C>T	17.37:g.10435042G>A	ENSP00000245503:p.Leu869Phe		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672800	0.67928	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85258	-1.96;-1.96	4.71	4.71	0.59529	.	0.000000	0.35378	U	0.003247	D	0.92309	0.7560	M	0.83118	2.625	0.39956	D	0.974606	D	0.57899	0.981	D	0.65773	0.938	D	0.93060	0.6473	10	0.48119	T	0.1	.	17.8355	0.88694	0.0:0.0:1.0:0.0	.	869	Q9UKX2	MYH2_HUMAN	F	869	ENSP00000245503:L869F;ENSP00000380367:L869F	ENSP00000245503:L869F	L	-	1	0	MYH2	10375767	0.992000	0.36948	0.125000	0.21846	0.957000	0.61999	3.097000	0.50251	2.447000	0.82792	0.561000	0.74099	CTT		0.423	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10435042	G	A	10435042	3	1	121	1	0	0	0	0	1	0	0	0	10037	1029	36	2	3296	2	MYH2	17	10435042	Missense_Mutation	SNP	G	TCGA-AS-3777-01A-01D-0966-08	8886086	10435042	70760168	31	7398											
NUFIP2	57532	broad.mit.edu	37	17	27620806	27620808	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:27620806_27620808delTTC	ENST00000225388.4	-	1	328_330	c.270_272delGAA	c.(268-273)aagaaa>aaa	p.90_91KK>K	NUFIP2_ENST00000579665.1_In_Frame_Del_p.90_91KK>K	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	90						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			caGACCTGTTTTCTTCTTCGGCG	0.645																																																0																																										SO:0001651	inframe_deletion	57532			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.270_272delGAA	17.37:g.27620812_27620814delTTC	ENSP00000225388:p.Lys91del		A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	CCDS32600.1																																																																																				0.645	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		-	27620808	TTC	-	27620806	7	5	121	1	0	1	0	1	0	0	0	0	10751	1841	64	0	1831	0	NUFIP2	17	27620806	In_Frame_Del	DEL	TTC	TCGA-AS-3777-01A-01D-0966-08	17185764	27620806	53574404	32	7399											
TRIM37	4591	broad.mit.edu	37	17	57125063	57125063	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr17:57125063C>A	ENST00000262294.7	-	16	1907	c.1648G>T	c.(1648-1650)Gat>Tat	p.D550Y	TRIM37_ENST00000393065.2_Missense_Mutation_p.D516Y|TRIM37_ENST00000376149.3_Missense_Mutation_p.D428Y|TRIM37_ENST00000393066.3_Missense_Mutation_p.D550Y	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	550					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCATCAATATCATTTTCTTCT	0.353									Mulibrey Nanism																																							0													106	94	98					17																	57125063		2203	4300	6503	SO:0001583	missense	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1648G>T	17.37:g.57125063C>A	ENSP00000262294:p.Asp550Tyr		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439494	0.83885	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;D;T	0.81659	0.25;0.25;-1.52;-0.17	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.87223	0.2255	10	0.87932	D	0	-6.472	19.5128	0.95151	0.0:1.0:0.0:0.0	.	516;428;550	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	Y	550;550;428;516	ENSP00000376785:D550Y;ENSP00000262294:D550Y;ENSP00000365319:D428Y;ENSP00000376784:D516Y	ENSP00000262294:D550Y	D	-	1	0	TRIM37	54479845	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.605000	0.88082	0.557000	0.71058	GAT		0.353	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		A	57125063	C	A	57125063	3	1	121	1	0	0	0	0	1	0	0	0	16516	826	29	4	1290	4	TRIM37	17	57125063	Missense_Mutation	SNP	C	TCGA-AS-3777-01A-01D-0966-08	29504257	57125063	24070147	33	7400											
SERPINB3	6317	broad.mit.edu	37	18	61324536	61324537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:61324536_61324537insT	ENST00000283752.5	-	6	722_723	c.579_580insA	c.(577-582)gaagatfs	p.D194fs	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Frame_Shift_Ins_p.D194fs	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	194					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTTTAGTATCTTCTTTATTAA	0.292																																																0																																										SO:0001589	frameshift_variant	6317			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.580dupA	18.37:g.61324538_61324538dupT	ENSP00000283752:p.Asp194fs		A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Frame_Shift_Ins	INS	ENST00000283752.5	37	CCDS11987.1																																																																																				0.292	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		T	61324537	-	T	61324536	7	5	121	1	0	1	1	0	0	0	0	0	14108	913	32	0	604	0	SERPINB3	18	61324536	Frame_Shift_Ins	INS	-	TCGA-AS-3777-01A-01D-0966-08		61324536	16752712	34	7401											
SALL3	27164	broad.mit.edu	37	18	76753036	76753036	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:76753036G>A	ENST00000537592.2	+	2	1045	c.1045G>A	c.(1045-1047)Ggg>Agg	p.G349R	SALL3_ENST00000575389.2_Missense_Mutation_p.G349R|SALL3_ENST00000536229.3_Missense_Mutation_p.G216R	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	349					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCTGGCCCCGGGGTCCCTGCT	0.771																																																0													7	9	8					18																	76753036		2118	4149	6267	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1045G>A	18.37:g.76753036G>A	ENSP00000441823:p.Gly349Arg		Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307832	0.23821	.	.	ENSG00000256463	ENST00000537592;ENST00000536229	T	0.10099	2.91	4.37	1.54	0.23209	.	0.244999	0.28098	N	0.016620	T	0.06645	0.0170	L	0.31294	0.92	0.20703	N	0.999866	P	0.42409	0.779	B	0.36885	0.235	T	0.28004	-1.0057	10	0.49607	T	0.09	-8.8444	6.6314	0.22859	0.1562:0.0:0.6996:0.1442	.	349	Q9BXA9	SALL3_HUMAN	R	349	ENSP00000441823:G349R	ENSP00000299466:G349R	G	+	1	0	SALL3	74854024	0.997000	0.39634	0.000000	0.03702	0.002000	0.02628	3.516000	0.53436	0.118000	0.18165	-0.384000	0.06662	GGG		0.771	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		A	76753036	G	A	76753036	3	1	121	1	0	0	0	0	1	0	0	0	13818	1232	43	2	1051	2	SALL3	18	76753036	Missense_Mutation	SNP	G	TCGA-AS-3777-01A-01D-0966-08	15428500	76753036	1324212	35	7402											
ADNP2	22850	broad.mit.edu	37	18	77895551	77895552	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr18:77895551_77895552insT	ENST00000262198.4	+	4	2710_2711	c.2255_2256insT	c.(2254-2259)tgtaagfs	p.K753fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	753					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGTCTGTCTTGTAAGTGCTTGG	0.475																																																0																																										SO:0001589	frameshift_variant	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2256dupT	18.37:g.77895552_77895552dupT	ENSP00000262198:p.Lys753fs		A8K951|O94943|Q9H9P3	Frame_Shift_Ins	INS	ENST00000262198.4	37	CCDS32853.1																																																																																				0.475	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		T	77895552	-	T	77895551	7	5	121	1	0	1	1	0	0	0	0	0	324	1377	48	0	2265	0	ADNP2	18	77895551	Frame_Shift_Ins	INS	-	TCGA-AS-3777-01A-01D-0966-08	1142515	77895551	181697	36	7403											
ATP9A	10079	broad.mit.edu	37	20	50226667	50226667	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chr20:50226667G>C	ENST00000338821.5	-	24	2873	c.2609C>G	c.(2608-2610)cCt>cGt	p.P870R	ATP9A_ENST00000402822.1_Missense_Mutation_p.P749R|ATP9A_ENST00000311637.5_Missense_Mutation_p.P734R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	870					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGATAGAGAGGGACGGAGGC	0.423																																																0													127	113	117					20																	50226667		2203	4300	6503	SO:0001583	missense	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2609C>G	20.37:g.50226667G>C	ENSP00000342481:p.Pro870Arg		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300594	0.81136	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.70399	-0.48;-0.48;-0.48	4.88	4.88	0.63580	.	0.052502	0.85682	D	0.000000	T	0.72120	0.3421	L	0.53561	1.675	0.80722	D	1	P;P	0.36465	0.527;0.554	B;B	0.41088	0.25;0.347	T	0.75536	-0.3283	10	0.62326	D	0.03	-18.791	18.3951	0.90495	0.0:0.0:1.0:0.0	.	749;870	O75110-2;O75110	.;ATP9A_HUMAN	R	734;870;749	ENSP00000309086:P734R;ENSP00000342481:P870R;ENSP00000385875:P749R	ENSP00000309086:P734R	P	-	2	0	ATP9A	49660074	1.000000	0.71417	0.682000	0.30024	0.997000	0.91878	9.307000	0.96226	2.414000	0.81942	0.655000	0.94253	CCT		0.423	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		C	50226667	G	C	50226667	3	2	121	1	0	0	0	0	1	0	0	0	1198	1000	35	4	554	4	ATP9A	20	50226667	Missense_Mutation	SNP	G	TCGA-AS-3777-01A-01D-0966-08		50226667	12798853	37	7404											
CXorf22	170063	broad.mit.edu	37	X	35969399	35969399	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:35969399G>A	ENST00000297866.5	+	5	874	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	270										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTAAACATGCACGTGTATA	0.418																																																0													79	69	72					X																	35969399		2202	4300	6502	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.808G>A	X.37:g.35969399G>A	ENSP00000297866:p.Ala270Thr		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415844	0.42817	.	.	ENSG00000165164	ENST00000297866	T	0.16073	2.37	5.76	5.76	0.90799	.	0.221824	0.46145	D	0.000303	T	0.36026	0.0952	M	0.74881	2.28	0.21915	N	0.999474	D	0.69078	0.997	D	0.64506	0.926	T	0.30880	-0.9963	10	0.22109	T	0.4	-19.1526	11.0655	0.47972	0.0951:0.0:0.9049:0.0	.	270	Q6ZTR5	CX022_HUMAN	T	270	ENSP00000297866:A270T	ENSP00000297866:A270T	A	+	1	0	CXorf22	35879320	0.815000	0.29118	0.120000	0.21714	0.036000	0.12997	4.148000	0.58085	2.416000	0.81992	0.513000	0.50165	GCA		0.418	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		A	35969399	G	A	35969399	3	1	121	1	0	0	0	0	1	0	0	0	4104	1319	46	2	826	2	CXorf22	23	35969399	Missense_Mutation	SNP	G	TCGA-AS-3777-01A-01D-0966-08		35969399	119301161	38	7405											
ALG13	79868	broad.mit.edu	37	X	111002972	111002972	+	Silent	SNP	G	G	A			TCGA-AS-3777-01A-01D-0966-08	TCGA-AS-3777-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b771fd10-af27-4da6-aa24-7ecc2d1474e0	05cc3865-125d-4c09-b63a-b177ff676e78	g.chrX:111002972G>A	ENST00000394780.3	+	27	3171	c.3159G>A	c.(3157-3159)ccG>ccA	p.P1053P	ALG13_ENST00000251943.4_Silent_p.P870P|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1053					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						ATACTTTTCCGAATGCTGATT	0.408																																																0													71	51	57					X																	111002972		1568	3581	5149	SO:0001819	synonymous_variant	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3159G>A	X.37:g.111002972G>A			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	CCDS55477.1																																																																																				0.408	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		A	111002972	G	A	111002972	2	1	121	1	0	0	0	0	0	0	0	1	515	1045	37	1		1	ALG13	23	111002972	Silent	SNP	G	TCGA-AS-3777-01A-01D-0966-08	75033573	111002972	44267588	39	7406											
SPATA6	54558	hgsc.bcm.edu	37	1	48918785	48918785	+	Missense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:48918785C>T	ENST00000371847.3	-	2	234	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000371843.3_Missense_Mutation_p.V24M|SPATA6_ENST00000396199.3_De_novo_Start_InFrame	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	24					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCTTTAAGCACGACTCCTGGG	0.373																																																0													124	118	120					1																	48918785		2203	4300	6503	SO:0001583	missense	54558			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"spermatogenesis-related factor-1"	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.70G>A	chr1.hg19:g.48918785C>T	ENSP00000360913:p.Val24Met		Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	hg19	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373114	0.24857	.	.	ENSG00000132122	ENST00000371847;ENST00000371843	T;T	0.12569	2.67;2.67	5.12	1.99	0.26369	.	0.662370	0.14247	N	0.331705	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B	0.33073	0.396;0.153	B;B	0.24394	0.053;0.053	T	0.41088	-0.9528	10	0.30854	T	0.27	.	3.3052	0.06997	0.1575:0.4045:0.3416:0.0963	.	24;24	Q9NWH7-2;Q9NWH7	.;SPAT6_HUMAN	M	24	ENSP00000360913:V24M;ENSP00000360909:V24M	ENSP00000360909:V24M	V	-	1	0	SPATA6	48691372	0.208000	0.23494	1.000000	0.80357	0.990000	0.78478	-0.170000	0.09897	1.163000	0.42636	0.555000	0.69702	GTG		0.373	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		T	48918785	C	T	48918785	3	4	122	1	0	0	0	0	1	0	0	0	15018	536	19	1	1444	1	SPATA6	1	48918785	Missense_Mutation	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10		48918785	200331836	1	7407											
GTF2B	2959	hgsc.bcm.edu	37	1	89352944	89352944	+	Splice_Site	SNP	C	C	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:89352944C>G	ENST00000370500.5	-	2	242	c.124G>C	c.(124-126)Ggt>Cgt	p.G42R	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	42					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		AACAACTCACCTACAACCAAG	0.473																																																0													293	301	298					1																	89352944		2203	4300	6503	SO:0001630	splice_region_variant	2959			M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"General transcription factors"	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.124+1G>C	chr1.hg19:g.89352944C>G			A8K1A7|Q5JS30	Missense_Mutation	SNP	ENST00000370500.5	hg19	CCDS715.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002123	0.74932	.	.	ENSG00000137947	ENST00000370500;ENST00000448623	T;T	0.43294	0.95;0.95	5.67	5.67	0.87782	Zinc finger, TFIIB-type (2);	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	M	0.77103	2.36	0.80722	D	1	B	0.13145	0.007	B	0.23574	0.047	T	0.24977	-1.0145	9	.	.	.	-12.0703	19.7698	0.96359	0.0:1.0:0.0:0.0	.	42	Q00403	TF2B_HUMAN	R	42;41	ENSP00000359531:G42R;ENSP00000415741:G41R	.	G	-	1	0	GTF2B	89125532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.125000	0.77193	2.659000	0.90383	0.655000	0.94253	GGT		0.473	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514	Missense_Mutation	G	89352944	C	G	89352944	5	3	122	1	0	0	0	0	0	0	1	0	6857	695	24	4	850	4	GTF2B	1	89352944	Splice_Site	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	40434159	89352944	159897677	2	7408											
C1orf146	388649	hgsc.bcm.edu	37	1	92707844	92707844	+	Missense_Mutation	SNP	A	A	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:92707844A>C	ENST00000370375.3	+	3	290	c.142A>C	c.(142-144)Att>Ctt	p.I48L	C1orf146_ENST00000370373.2_5'UTR	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	48										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		AAATGGATCAATTATATTTTC	0.308																																																0													111	112	112					1																	92707844		2203	4298	6501	SO:0001583	missense	388649				CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.142A>C	chr1.hg19:g.92707844A>C	ENSP00000359401:p.Ile48Leu		Q5VVC4	Missense_Mutation	SNP	ENST00000370375.3	hg19	CCDS30772.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520239	0.44866	.	.	ENSG00000203910	ENST00000370375;ENST00000370373	.	.	.	5.15	2.85	0.33270	.	0.254660	0.34067	N	0.004296	T	0.11750	0.0286	N	0.24115	0.695	0.28249	N	0.92534	B	0.32507	0.373	B	0.30572	0.117	T	0.07986	-1.0744	9	0.59425	D	0.04	0.0214	8.2971	0.31993	0.7519:0.0:0.2481:0.0	.	48	Q5VVC0	CA146_HUMAN	L	48;27	.	ENSP00000359399:I27L	I	+	1	0	C1orf146	92480432	0.955000	0.32602	0.999000	0.59377	0.994000	0.84299	1.221000	0.32503	0.445000	0.26639	0.533000	0.62120	ATT		0.308	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		C	92707844	A	C	92707844	3	2	122	1	0	0	0	0	1	0	0	0	2005	101	4	5	148	5	C1orf146	1	92707844	Missense_Mutation	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10	3354900	92707844	156542777	3	7409											
ZNF697	90874	hgsc.bcm.edu	37	1	120165395	120165395	+	Missense_Mutation	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:120165395G>A	ENST00000421812.2	-	3	1690	c.1571C>T	c.(1570-1572)gCg>gTg	p.A524V		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GCCGCAGCCCGCACACTTGTG	0.637																																																0													13	17	16					1																	120165395		2127	4266	6393	SO:0001583	missense	90874			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1571C>T	chr1.hg19:g.120165395G>A	ENSP00000396857:p.Ala524Val		Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	hg19	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	G	2.237	-0.374694	0.05034	.	.	ENSG00000143067	ENST00000421812	T	0.17691	2.26	4.99	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.216152	0.23519	N	0.047302	T	0.03915	0.0110	N	0.20574	0.59	0.09310	N	1	B	0.23128	0.08	B	0.25291	0.059	T	0.32188	-0.9916	10	0.37606	T	0.19	-8.4913	8.9809	0.35964	0.0:0.1625:0.6694:0.1681	.	524	Q5TEC3	ZN697_HUMAN	V	524	ENSP00000396857:A524V	ENSP00000396857:A524V	A	-	2	0	ZNF697	119966918	0.000000	0.05858	0.026000	0.17262	0.005000	0.04900	0.294000	0.19047	1.414000	0.47017	-0.175000	0.13238	GCG		0.637	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		A	120165395	G	A	120165395	3	1	122	1	0	0	0	0	1	0	0	0	18105	1087	38	1	70	1	ZNF697	1	120165395	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	27457551	120165395	129085226	4	7410											
CREG1	8804	hgsc.bcm.edu	37	1	167515417	167515417	+	Missense_Mutation	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:167515417T>A	ENST00000370509.4	-	3	605	c.580A>T	c.(580-582)Ata>Tta	p.I194L	CREG1_ENST00000466652.1_5'UTR	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	194					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|transcription factor complex (GO:0005667)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)|transcription corepressor activity (GO:0003714)										ATATTGGTTATATTCAACTTA	0.383																																																0													73	75	74					1																	167515417		2203	4300	6503	SO:0001583	missense	8804			AF084523	CCDS1262.1	1q24	2008-02-05	2004-09-22	2004-09-22	ENSG00000143162	ENSG00000143162			2351	protein-coding gene	gene with protein product			"cellular repressor of E1A-stimulated genes"	CREG		9710587	Standard	NM_003851		Approved		uc001gel.3	O75629	OTTHUMG00000034682	ENST00000370509.4:c.580A>T	chr1.hg19:g.167515417T>A	ENSP00000359540:p.Ile194Leu		B2RDD4|Q8N9A3	Missense_Mutation	SNP	ENST00000370509.4	hg19	CCDS1262.1	.	.	.	.	.	.	.	.	.	.	T	33	5.194241	0.94960	.	.	ENSG00000143162	ENST00000370509	.	.	.	5.86	5.86	0.93980	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.82923	2.615	0.51012	D	0.999905	D	0.58620	0.983	D	0.68192	0.956	T	0.79102	-0.1941	8	0.52906	T	0.07	0.6411	16.2453	0.82441	0.0:0.0:0.0:1.0	.	194	O75629	CREG1_HUMAN	L	194	.	ENSP00000359540:I194L	I	-	1	0	CREG1	165782041	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.549000	0.82163	2.241000	0.73720	0.533000	0.62120	ATA		0.383	CREG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083911.1	NM_003851		A	167515417	T	A	167515417	3	1	122	1	0	0	0	0	1	0	0	0	3866	1406	49	5	90	5	CREG1	1	167515417	Missense_Mutation	SNP	T	TCGA-AT-A5NU-01A-11D-A28G-10	47350022	167515417	81735204	5	7411											
MOSC1	64757	hgsc.bcm.edu	37	1	220960439	220960439	+	Silent	SNP	G	G	T	rs367900610		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr1:220960439G>T	ENST00000366910.5	+	1	339	c.153G>T	c.(151-153)ctG>ctT	p.L51L		NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	51					detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										GCCGGCGGCTGCTGCAGCAGG	0.756																																																0								G		0,3888		0,0,1944	5	6	6		153	0.2	0.9	1		6	2,7704		0,2,3851	no	coding-synonymous	MOSC1	NM_022746.3		0,2,5795	TT,TG,GG		0.026,0.0,0.0173		51/338	220960439	2,11592	1944	3853	5797	SO:0001819	synonymous_variant	64757			AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"MOCO sulphurase C-terminal domain containing 1"	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.153G>T	chr1.hg19:g.220960439G>T			A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Silent	SNP	ENST00000366910.5	hg19	CCDS1526.1																																																																																				0.756	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		T	220960439	G	T	220960439	2	4	122	1	0	0	0	0	0	0	0	1	9715	1306	46	4		4	MOSC1	1	220960439	Silent	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	53445022	220960439	28290182	6	7412											
CEBPZ	10153	hgsc.bcm.edu	37	2	37455042	37455042	+	Missense_Mutation	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:37455042T>A	ENST00000234170.5	-	2	1439	c.1294A>T	c.(1294-1296)Aat>Tat	p.N432Y		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	432					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GAGCTGATATTTGAGCGGAAG	0.363																																																0													102	104	103					2																	37455042		2203	4300	6503	SO:0001583	missense	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1294A>T	chr2.hg19:g.37455042T>A	ENSP00000234170:p.Asn432Tyr		Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	hg19	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885601	0.72410	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.13420	2.59	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59289	-0.7482	10	0.87932	D	0	.	15.3016	0.73955	0.0:0.0:0.0:1.0	.	432	Q03701	CEBPZ_HUMAN	Y	432	ENSP00000234170:N432Y	ENSP00000234170:N432Y	N	-	1	0	CEBPZ	37308546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.017000	0.59298	0.528000	0.53228	AAT		0.363	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		A	37455042	T	A	37455042	3	1	122	1	0	0	0	0	1	0	0	0	3206	1841	64	5	1930	5	CEBPZ	2	37455042	Missense_Mutation	SNP	T	TCGA-AT-A5NU-01A-11D-A28G-10		37455042	205744331	7	7413											
C2orf34	79823	hgsc.bcm.edu	37	2	44589184	44589184	+	Missense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:44589184C>T	ENST00000378494.3	+	1	82	c.38C>T	c.(37-39)aCc>aTc	p.T13I	PREPL_ENST00000409936.1_5'Flank|PREPL_ENST00000378511.3_5'Flank|PREPL_ENST00000540817.1_5'Flank|PREPL_ENST00000409411.1_5'Flank|PREPL_ENST00000410081.1_5'Flank|CAMKMT_ENST00000402247.1_Missense_Mutation_p.T13I|PREPL_ENST00000409957.1_5'Flank|CAMKMT_ENST00000403853.3_Missense_Mutation_p.T13I|PREPL_ENST00000260648.6_5'Flank|PREPL_ENST00000409272.1_5'Flank|CAMKMT_ENST00000407131.1_Missense_Mutation_p.T13I|PREPL_ENST00000541738.1_5'Flank|PREPL_ENST00000378520.3_5'Flank	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	13						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						ACCGGCGAGACCGCGCGAGCA	0.741																																																0													4	7	6					2																	44589184		2073	4050	6123	SO:0001583	missense	79823				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"CaM KMT"	609559	"chromosome 2 open reading frame 34"	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.38C>T	chr2.hg19:g.44589184C>T	ENSP00000367755:p.Thr13Ile		Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	hg19	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846091	0.51164	.	.	ENSG00000143919	ENST00000402247;ENST00000454848;ENST00000407131;ENST00000378494;ENST00000403853	.	.	.	4.91	4.91	0.64330	.	0.320112	0.26262	N	0.025387	T	0.41419	0.1158	L	0.40543	1.245	0.09310	N	0.999994	B;P	0.47762	0.079;0.9	B;P	0.47645	0.051;0.553	T	0.30765	-0.9967	9	0.39692	T	0.17	-0.7064	13.4872	0.61373	0.0:1.0:0.0:0.0	.	13;13	Q7Z624;Q7Z624-2	CMKMT_HUMAN;.	I	13	.	ENSP00000367755:T13I	T	+	2	0	CAMKMT	44442688	0.000000	0.05858	0.278000	0.24718	0.011000	0.07611	0.616000	0.24344	2.549000	0.85964	0.655000	0.94253	ACC		0.741	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		T	44589184	C	T	44589184	3	4	122	1	0	0	0	0	1	0	0	0	2165	507	18	2	40	2	C2orf34	2	44589184	Missense_Mutation	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	7134142	44589184	198610189	8	7414											
GCC2	9648	hgsc.bcm.edu	37	2	109087879	109087879	+	Missense_Mutation	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:109087879T>A	ENST00000309863.6	+	6	2808	c.2094T>A	c.(2092-2094)agT>agA	p.S698R		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	698					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATAAACTCAGTTCAGAAAAAA	0.308																																																0													114	143	133					2																	109087879		2203	4299	6502	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2094T>A	chr2.hg19:g.109087879T>A	ENSP00000307939:p.Ser698Arg		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	hg19	CCDS33268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.987|3.987	-0.005307|-0.005307	0.07773|0.07773	.|.	.|.	ENSG00000135968|ENSG00000135968	ENST00000309863;ENST00000409896|ENST00000393318	T|.	0.32023|.	1.47|.	5.5|5.5	4.27|4.27	0.50696|0.50696	.|.	0.676432|.	0.15756|.	N|.	0.246200|.	T|T	0.34019|0.34019	0.0883|0.0883	L|L	0.41236|0.41236	1.265|1.265	0.24442|0.24442	N|N	0.994523|0.994523	B|.	0.27625|.	0.183|.	B|.	0.22386|.	0.039|.	T|T	0.18840|0.18840	-1.0324|-1.0324	10|6	0.19590|0.12103	T|T	0.45|0.63	.|.	8.3633|8.3633	0.32372|0.32372	0.1299:0.0:0.1353:0.7349|0.1299:0.0:0.1353:0.7349	.|.	698|.	Q8IWJ2|.	GCC2_HUMAN|.	R|D	698;661|443	ENSP00000307939:S698R|.	ENSP00000307939:S698R|ENSP00000376993:V443D	S|V	+|+	3|2	2|0	GCC2|GCC2	108454311|108454311	0.010000|0.010000	0.17322|0.17322	0.942000|0.942000	0.38095|0.38095	0.386000|0.386000	0.30323|0.30323	0.472000|0.472000	0.22116|0.22116	2.213000|2.213000	0.71641|0.71641	0.528000|0.528000	0.53228|0.53228	AGT|GTT		0.308	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		A	109087879	T	A	109087879	3	1	122	1	0	0	0	0	1	0	0	0	6288	1722	60	5	2116	5	GCC2	2	109087879	Missense_Mutation	SNP	T	TCGA-AT-A5NU-01A-11D-A28G-10	64498695	109087879	134111494	9	7415											
ORC4L	5000	hgsc.bcm.edu	37	2	148695764	148695764	+	Missense_Mutation	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:148695764T>A	ENST00000392857.5	-	13	1180	c.1073A>T	c.(1072-1074)cAa>cTa	p.Q358L	ORC4_ENST00000264169.2_Missense_Mutation_p.Q358L|ORC4_ENST00000536575.1_Missense_Mutation_p.Q274L|ORC4_ENST00000392858.1_Missense_Mutation_p.Q358L|ORC4_ENST00000540442.1_Missense_Mutation_p.Q284L|AC009480.1_ENST00000584553.1_RNA|ORC4_ENST00000535373.1_Missense_Mutation_p.Q358L|ORC4_ENST00000488761.1_5'Flank|ORC4_ENST00000542387.1_Missense_Mutation_p.Q141L	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	358					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TGCTTTCCTTTGAACAAACTT	0.328																																																0													50	52	51					2																	148695764		2201	4299	6500	SO:0001583	missense	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"ATPases / AAA-type"	8490	protein-coding gene	gene with protein product		603056	"origin recognition complex, subunit 4 (yeast homolog)-like", "origin recognition complex, subunit 4-like (yeast)", "origin recognition complex, subunit 4-like (S. cerevisiae)", "origin recognition complex, subunit 4 homolog (S. cerevisiae)"	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.1073A>T	chr2.hg19:g.148695764T>A	ENSP00000376597:p.Gln358Leu		B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	hg19	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162605	0.57368	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	M	0.66939	2.045	0.80722	D	1	B	0.32573	0.376	B	0.30943	0.122	T	0.75445	-0.3315	10	0.41790	T	0.15	-17.6101	16.4116	0.83717	0.0:0.0:0.0:1.0	.	358	O43929	ORC4_HUMAN	L	358;358;358;284;274;358;141	ENSP00000264169:Q358L;ENSP00000441953:Q358L;ENSP00000376598:Q358L;ENSP00000438326:Q284L;ENSP00000441502:Q274L;ENSP00000376597:Q358L;ENSP00000437440:Q141L	ENSP00000264169:Q358L	Q	-	2	0	ORC4	148412234	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.684000	0.84104	2.276000	0.75962	0.528000	0.53228	CAA		0.328	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		A	148695764	T	A	148695764	3	1	122	1	0	0	0	0	1	0	0	0	11266	1812	63	5	245	5	ORC4L	2	148695764	Missense_Mutation	SNP	T	TCGA-AT-A5NU-01A-11D-A28G-10	39607885	148695764	94503609	10	7416											
NEB	4703	hgsc.bcm.edu	37	2	152579988	152579989	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:152579988_152579989insA	ENST00000172853.10	-	9	771_772	c.624_625insT	c.(622-627)actgaafs	p.E209fs	NEB_ENST00000427231.2_Frame_Shift_Ins_p.E209fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.E209fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.E209fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.E209fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.E209fs			P20929	NEBU_HUMAN	nebulin	209					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E209*(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCCAGTCTTCAGTGTACAGTT	0.391																																																1	Substitution - Nonsense(1)	autonomic_ganglia(1)																																								SO:0001589	frameshift_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.625dupT	chr2.hg19:g.152579989_152579989dupA	ENSP00000172853:p.Glu209fs		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	ENST00000172853.10	hg19																																																																																					0.391	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152579989	-	A	152579988	7	5	122	1	0	1	1	0	0	0	0	0	10304	835	29	0	25757	0	NEB	2	152579988	Frame_Shift_Ins	INS	-	TCGA-AT-A5NU-01A-11D-A28G-10	3884224	152579988	90619385	11	7417											
PKP4	8502	hgsc.bcm.edu	37	2	159459582	159459582	+	Splice_Site	SNP	C	C	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:159459582C>A	ENST00000389759.3	+	4	358	c.246C>A	c.(244-246)agC>agA	p.S82R	PKP4_ENST00000389757.3_Splice_Site_p.S82R	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	82					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTTCTTTAGCTCAACTGAGA	0.259										HNSCC(62;0.18)																																						0													39	47	45					2																	159459582		2180	4267	6447	SO:0001630	splice_region_variant	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.246-1C>A	chr2.hg19:g.159459582C>A			Q86W91	Missense_Mutation	SNP	ENST00000389759.3	hg19	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754453	0.49362	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.79653	-1.28;-1.29	5.48	5.48	0.80851	.	0.095284	0.64402	D	0.000001	T	0.75258	0.3825	L	0.59436	1.845	0.80722	D	1	B;P	0.42456	0.339;0.78	B;B	0.34779	0.189;0.18	T	0.76046	-0.3102	9	.	.	.	.	15.2074	0.73190	0.0:1.0:0.0:0.0	.	82;82	Q99569-2;Q99569	.;PKP4_HUMAN	R	82	ENSP00000374407:S82R;ENSP00000374409:S82R	.	S	+	3	2	PKP4	159167828	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	2.706000	0.47135	2.745000	0.94114	0.484000	0.47621	AGC		0.259	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		Missense_Mutation	A	159459582	C	A	159459582	5	1	122	1	0	0	0	0	0	0	1	0	11989	811	28	4	256	4	PKP4	2	159459582	Splice_Site	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	6879594	159459582	83739791	12	7418											
GPR155	151556	hgsc.bcm.edu	37	2	175331330	175331330	+	Missense_Mutation	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:175331330A>G	ENST00000392552.2	-	6	1446	c.1208T>C	c.(1207-1209)tTg>tCg	p.L403S	GPR155_ENST00000295500.4_Missense_Mutation_p.L403S|GPR155_ENST00000392551.2_Missense_Mutation_p.L403S	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	403					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TTTCTTACTCAAAAGAAGAAT	0.274																																																0													78	87	84					2																	175331330		2202	4287	6489	SO:0001583	missense	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1208T>C	chr2.hg19:g.175331330A>G	ENSP00000376335:p.Leu403Ser		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	hg19	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485820	0.84854	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.52983	0.64;0.64;0.64	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.71581	2.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.66881	-0.5811	10	0.38643	T	0.18	-8.6419	16.0125	0.80411	1.0:0.0:0.0:0.0	.	403	Q7Z3F1	GP155_HUMAN	S	403	ENSP00000376335:L403S;ENSP00000376334:L403S;ENSP00000295500:L403S	ENSP00000295500:L403S	L	-	2	0	GPR155	175039576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.737000	0.91562	2.178000	0.69098	0.528000	0.53228	TTG		0.274	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		G	175331330	A	G	175331330	3	3	122	1	0	0	0	0	1	0	0	0	6662	131	5	3	1448	3	GPR155	2	175331330	Missense_Mutation	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10	15871748	175331330	67868043	13	7419											
NBEAL1	65065	hgsc.bcm.edu	37	2	203972839	203972839	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:203972839G>A	ENST00000449802.1	+	13	2123	c.1790G>A	c.(1789-1791)tGg>tAg	p.W597*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	597										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTCAGTGCTTGGTTTTGCTTA	0.408																																																0													60	50	53					2																	203972839		692	1591	2283	SO:0001587	stop_gained	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.1790G>A	chr2.hg19:g.203972839G>A	ENSP00000399903:p.Trp597*		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Nonsense_Mutation	SNP	ENST00000449802.1	hg19	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	41	8.993174	0.99029	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1076	0.93303	0.0:0.0:1.0:0.0	.	.	.	.	X	597	.	ENSP00000344985:W597X	W	+	2	0	NBEAL1	203681084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.500000	0.84329	0.557000	0.71058	TGG		0.408	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			A	203972839	G	A	203972839	4	1	122	1	0	0	0	0	0	1	0	0	10190	1357	47	2	1836	2	NBEAL1	2	203972839	Nonsense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	28641509	203972839	39226534	14	7420											
C2orf62	375307	hgsc.bcm.edu	37	2	219222408	219222408	+	Silent	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr2:219222408C>T	ENST00000289388.3	+	3	299	c.270C>T	c.(268-270)gcC>gcT	p.A90A	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		90					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGTGCATGCCTCTAGCCGAG	0.567																																																0													75	72	73					2																	219222408		2203	4300	6503	SO:0001819	synonymous_variant	375307																														ENST00000289388.3:c.270C>T	chr2.hg19:g.219222408C>T				Silent	SNP	ENST00000289388.3	hg19	CCDS2414.1																																																																																				0.567	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			T	219222408	C	T	219222408	2	4	122	1	0	0	0	0	0	0	0	1	2183	668	24	2		2	C2orf62	2	219222408	Silent	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	15249569	219222408	23976965	15	7421											
LAMB2	3913	hgsc.bcm.edu	37	3	49161312	49161312	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr3:49161312G>C	ENST00000418109.1	-	25	3810	c.3646C>G	c.(3646-3648)Cag>Gag	p.Q1216E	USP19_ENST00000453664.1_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.Q1216E	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1216	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCAACTCCTGCGCCCGCTGC	0.612																																																0													42	43	42					3																	49161312		2203	4300	6503	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3646C>G	chr3.hg19:g.49161312G>C	ENSP00000388325:p.Gln1216Glu		Q16321	Missense_Mutation	SNP	ENST00000418109.1	hg19	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	0.910	-0.719263	0.03182	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.34072	1.38;1.38	5.84	2.97	0.34412	.	0.513188	0.21549	N	0.072764	T	0.27933	0.0688	L	0.44542	1.39	0.21675	N	0.999593	B	0.17465	0.022	B	0.14023	0.01	T	0.26087	-1.0113	10	0.07175	T	0.84	.	14.3514	0.66705	0.0:0.0:0.4875:0.5125	.	1216	P55268	LAMB2_HUMAN	E	1216	ENSP00000388325:Q1216E;ENSP00000307156:Q1216E	ENSP00000307156:Q1216E	Q	-	1	0	LAMB2	49136316	0.007000	0.16637	0.323000	0.25347	0.532000	0.34746	0.332000	0.19751	0.326000	0.23384	0.561000	0.74099	CAG		0.612	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		C	49161312	G	C	49161312	3	2	122	1	0	0	0	0	1	0	0	0	8613	1328	46	4	1786	4	LAMB2	3	49161312	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10		49161312	148861118	16	7422											
ANAPC10	10393	hgsc.bcm.edu	37	4	145916549	145916549	+	Missense_Mutation	SNP	G	G	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr4:145916549G>T	ENST00000507656.1	-	5	627	c.534C>A	c.(532-534)ttC>ttA	p.F178L	ANAPC10_ENST00000451299.2_Missense_Mutation_p.F178L|ANAPC10_ENST00000309439.5_Missense_Mutation_p.F178L|ANAPC10_ENST00000510270.1_5'UTR	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	178	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					GATACATCATGAAATCTATAG	0.303																																																0													119	115	116					4																	145916549		1815	4079	5894	SO:0001583	missense	10393			AF132794	CCDS43273.1	4q31	2011-06-15			ENSG00000164162	ENSG00000164162		"Anaphase promoting complex subunits"	24077	protein-coding gene	gene with protein product		613745				10318877, 11230166	Standard	NM_001256706		Approved	APC10, DOC1, DKFZP564L0562	uc031shk.1	Q9UM13	OTTHUMG00000161477	ENST00000507656.1:c.534C>A	chr4.hg19:g.145916549G>T	ENSP00000423995:p.Phe178Leu		D3DNZ7|Q2V500|Q9UG51|Q9Y5R0	Missense_Mutation	SNP	ENST00000507656.1	hg19	CCDS43273.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607532	0.46527	.	.	ENSG00000164162	ENST00000507656;ENST00000309439;ENST00000451299	T;T;T	0.72615	-0.67;-0.67;-0.67	5.82	3.2	0.36748	Anaphase-promoting complex, subunit 10/DOC domain (2);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	L	0.57536	1.79	0.80722	D	1	B	0.09022	0.002	B	0.20384	0.029	T	0.51687	-0.8674	10	0.19147	T	0.46	-9.7039	8.8754	0.35343	0.2784:0.0:0.7216:0.0	.	178	Q9UM13	APC10_HUMAN	L	178	ENSP00000423995:F178L;ENSP00000310071:F178L;ENSP00000403891:F178L	ENSP00000310071:F178L	F	-	3	2	ANAPC10	146135999	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.820000	0.48057	0.400000	0.25396	0.484000	0.47621	TTC		0.303	ANAPC10-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365090.1	NM_014885		T	145916549	G	T	145916549	3	4	122	1	0	0	0	0	1	0	0	0	599	1281	45	4	27	4	ANAPC10	4	145916549	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10		145916549	45237727	17	7423											
ADAMTS12	81792	hgsc.bcm.edu	37	5	33658354	33658354	+	Silent	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:33658354A>G	ENST00000504830.1	-	7	1460	c.1125T>C	c.(1123-1125)agT>agC	p.S375S	ADAMTS12_ENST00000352040.3_Silent_p.S375S|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	375	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGATGTTACAACTGCGGTGAG	0.507										HNSCC(64;0.19)																																						0													145	145	145					5																	33658354		2203	4300	6503	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1125T>C	chr5.hg19:g.33658354A>G			A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	hg19	CCDS34140.1																																																																																				0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		G	33658354	A	G	33658354	2	3	122	1	0	0	0	0	0	0	0	1	257	40	2	3		3	ADAMTS12	5	33658354	Silent	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10		33658354	147256906	18	7424											
GPR98	84059	hgsc.bcm.edu	37	5	90281309	90281309	+	Missense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:90281309C>T	ENST00000405460.2	+	85	18218	c.18122C>T	c.(18121-18123)tCa>tTa	p.S6041L	GPR98_ENST00000425867.2_Missense_Mutation_p.S1702L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6041					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGCATGTCACAGATCTAT	0.433																																																0													181	166	171					5																	90281309		1920	4145	6065	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18122C>T	chr5.hg19:g.90281309C>T	ENSP00000384582:p.Ser6041Leu		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352252	0.41700	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.29917	1.61;1.55	5.7	5.7	0.88788	GPCR, family 2-like (1);	0.379457	0.28989	N	0.013487	T	0.22399	0.0540	N	0.14661	0.345	0.22835	N	0.998674	B;B;B	0.24317	0.101;0.042;0.082	B;B;B	0.25506	0.061;0.061;0.036	T	0.10042	-1.0647	9	.	.	.	.	19.8221	0.96602	0.0:1.0:0.0:0.0	.	1702;6041;1702	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	L	6041;6041;1702	ENSP00000384582:S6041L;ENSP00000392618:S1702L	.	S	+	2	0	GPR98	90317065	0.993000	0.37304	0.750000	0.31169	0.347000	0.29111	4.029000	0.57253	2.690000	0.91761	0.557000	0.71058	TCA		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	90281309	C	T	90281309	3	4	122	1	0	0	0	0	1	0	0	0	6723	838	29	2	18460	2	GPR98	5	90281309	Missense_Mutation	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	56622955	90281309	90633951	19	7425											
TRPC7	57113	hgsc.bcm.edu	37	5	135561911	135561911	+	Silent	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:135561911T>A	ENST00000513104.1	-	9	2355	c.2073A>T	c.(2071-2073)cgA>cgT	p.R691R	TRPC7_ENST00000355180.3_Silent_p.R630R|TRPC7_ENST00000426057.2_Silent_p.R575R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	691					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGTTTTGCTCGGGCGAACT	0.443																																																0													37	36	36					5																	135561911		1848	3950	5798	SO:0001819	synonymous_variant	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2073A>T	chr5.hg19:g.135561911T>A			A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	hg19	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	T	10.27	1.303877	0.23736	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	4.99	-2.08	0.07254	.	.	.	.	.	T	0.38161	0.1030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28073	-1.0055	4	.	.	.	-6.643	0.5481	0.00657	0.2789:0.2612:0.1187:0.3412	.	.	.	.	C	575;630;636	.	.	S	-	1	0	TRPC7	135589810	0.029000	0.19370	0.942000	0.38095	0.996000	0.88848	-0.795000	0.04580	-0.526000	0.06383	0.482000	0.46254	AGC		0.443	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		A	135561911	T	A	135561911	2	1	122	1	0	0	0	0	0	0	0	1	16589	1538	54	5		5	TRPC7	5	135561911	Silent	SNP	T	TCGA-AT-A5NU-01A-11D-A28G-10	45280602	135561911	45353349	20	7426											
HSPA9	3313	hgsc.bcm.edu	37	5	137903216	137903216	+	Missense_Mutation	SNP	T	T	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:137903216T>C	ENST00000297185.3	-	7	769	c.644A>G	c.(643-645)aAt>aGt	p.N215S	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	215					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCGAAGCACATTCAGTCCAGA	0.423																																																0													96	97	96					5																	137903216		2203	4300	6503	SO:0001583	missense	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.644A>G	chr5.hg19:g.137903216T>C	ENSP00000297185:p.Asn215Ser		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	hg19	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699341	0.68501	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.01203	5.18	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	H	0.95328	3.655	0.80722	D	1	B;B	0.24651	0.002;0.108	B;B	0.25884	0.006;0.064	T	0.01330	-1.1383	10	0.66056	D	0.02	-21.9951	15.0791	0.72099	0.0:0.0:0.0:1.0	.	146;215	B7Z1V7;P38646	.;GRP75_HUMAN	S	215;168;201	ENSP00000297185:N215S	ENSP00000297185:N215S	N	-	2	0	HSPA9	137931115	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.250000	0.72435	2.095000	0.63458	0.533000	0.62120	AAT		0.423	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		C	137903216	T	C	137903216	3	2	122	1	0	0	0	0	1	0	0	0	7419	1493	52	3	1439	3	HSPA9	5	137903216	Missense_Mutation	SNP	T	TCGA-AT-A5NU-01A-11D-A28G-10	2341305	137903216	43012044	21	7427											
PCDHA2	56146	hgsc.bcm.edu	37	5	140176265	140176265	+	Silent	SNP	C	C	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:140176265C>A	ENST00000526136.1	+	1	1716	c.1716C>A	c.(1714-1716)acC>acA	p.T572T	PCDHA2_ENST00000520672.2_Silent_p.T572T|PCDHA2_ENST00000378132.1_Silent_p.T572T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	572					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGGCACCGCTGCTGGCG	0.682																																																0													97	92	93					5																	140176265		2203	4298	6501	SO:0001819	synonymous_variant	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1716C>A	chr5.hg19:g.140176265C>A			O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	hg19	CCDS54914.1																																																																																				0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		A	140176265	C	A	140176265	2	1	122	1	0	0	0	0	0	0	0	1	11526	639	23	4		4	PCDHA2	5	140176265	Silent	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	2273049	140176265	40738995	22	7428											
DIAPH1	1729	hgsc.bcm.edu	37	5	140953451	140953451	+	Missense_Mutation	SNP	G	G	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:140953451G>T	ENST00000398557.4	-	16	2106	c.1966C>A	c.(1966-1968)Cct>Act	p.P656T	DIAPH1_ENST00000389057.5_Missense_Mutation_p.P647T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.P647T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.P656T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.P635T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.P602T|DIAPH1_ENST00000518047.1_Missense_Mutation_p.P647T|DIAPH1_ENST00000253811.6_Missense_Mutation_p.P656T	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	656	FH1.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGCAAAGGAGGGGGTGGA	0.592																																																0													9	9	9					5																	140953451		1969	4113	6082	SO:0001583	missense	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1966C>A	chr5.hg19:g.140953451G>T	ENSP00000381565:p.Pro656Thr		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	hg19	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	g	13.06	2.124083	0.37533	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.13;-0.15;-0.15;-0.15;-0.15;-0.15	4.73	4.73	0.59995	Formin Homology 1 (1);	0.242758	0.33875	N	0.004470	T	0.70430	0.3223	M	0.85373	2.75	0.48511	D	0.999665	P;P;P	0.43938	0.822;0.645;0.645	P;B;B	0.44477	0.451;0.41;0.41	T	0.73780	-0.3875	10	0.36615	T	0.2	.	16.9924	0.86357	0.0:0.0:1.0:0.0	.	602;647;656	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	T	656;602;635;647;647;656;656;647;95	ENSP00000373706:P656T;ENSP00000429282:P602T;ENSP00000381570:P635T;ENSP00000373709:P647T;ENSP00000381572:P647T;ENSP00000381565:P656T;ENSP00000253811:P656T;ENSP00000428268:P647T	ENSP00000253811:P656T	P	-	1	0	DIAPH1	140933635	0.998000	0.40836	1.000000	0.80357	0.566000	0.35808	3.542000	0.53625	2.629000	0.89072	0.472000	0.43445	CCT		0.592	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		T	140953451	G	T	140953451	3	4	122	1	0	0	0	0	1	0	0	0	4520	1174	41	4	1904	4	DIAPH1	5	140953451	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	777186	140953451	39961809	23	7429											
PCYOX1L	78991	hgsc.bcm.edu	37	5	148747898	148747898	+	Missense_Mutation	SNP	A	A	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:148747898A>T	ENST00000274569.4	+	6	1228	c.1166A>T	c.(1165-1167)cAg>cTg	p.Q389L	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.Q299L	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	389					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCAGCCCCAGGAGGCAGCT	0.557											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)											0													92	99	97					5																	148747898		2203	4300	6503	SO:0001583	missense	78991				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1166A>T	chr5.hg19:g.148747898A>T	ENSP00000274569:p.Gln389Leu	1719	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	hg19	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.122001	0.56613	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.15718	2.4;2.4	5.51	5.51	0.81932	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	M	0.66939	2.045	0.80722	D	1	D;B;D	0.69078	0.997;0.216;0.993	D;B;P	0.80764	0.994;0.09;0.874	T	0.08994	-1.0695	10	0.32370	T	0.25	-22.8691	15.6328	0.76926	1.0:0.0:0.0:0.0	.	271;299;389	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	L	389;299	ENSP00000274569:Q389L;ENSP00000428512:Q299L	ENSP00000274569:Q389L	Q	+	2	0	PCYOX1L	148728091	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	6.075000	0.71261	2.084000	0.62774	0.459000	0.35465	CAG		0.557	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		T	148747898	A	T	148747898	3	4	122	1	0	0	0	0	1	0	0	0	11611	188	7	5	1188	5	PCYOX1L	5	148747898	Missense_Mutation	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10	7794447	148747898	32167362	24	7430											
RARS	5917	hgsc.bcm.edu	37	5	167937680	167937680	+	Nonsense_Mutation	SNP	G	G	T	rs148161788		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:167937680G>T	ENST00000231572.3	+	12	1495	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	RARS_ENST00000538719.1_Nonsense_Mutation_p.E275*	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	481					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.E481K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAAGGAAAAAGAAAGAGACAA	0.373																																																1	Substitution - Missense(1)	skin(1)											65	65	65					5																	167937680		2203	4300	6503	SO:0001587	stop_gained	5917			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1441G>T	chr5.hg19:g.167937680G>T	ENSP00000231572:p.Glu481*		B2RBS9|Q53GY4|Q9BWA1	Nonsense_Mutation	SNP	ENST00000231572.3	hg19	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	G	38	6.721281	0.97788	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	.	.	.	4.99	4.12	0.48240	.	0.150792	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-22.9725	15.7934	0.78384	0.0:0.1366:0.8634:0.0	.	.	.	.	X	481;275	.	ENSP00000231572:E481X	E	+	1	0	RARS	167870258	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.498000	0.81546	1.218000	0.43458	-0.150000	0.13652	GAA		0.373	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		T	167937680	G	T	167937680	4	4	122	1	0	0	0	0	0	1	0	0	13064	943	33	4	1487	4	RARS	5	167937680	Nonsense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	19189782	167937680	12977580	25	7431											
DDX41	51428	hgsc.bcm.edu	37	5	176943307	176943307	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr5:176943307G>C	ENST00000507955.1	-	3	803	c.280C>G	c.(280-282)Ctt>Gtt	p.L94V	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	94					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTCTCTTTAAGGTGCTGGTGC	0.582																																																0													161	161	161					5																	176943307		2203	4300	6503	SO:0001583	missense	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.280C>G	chr5.hg19:g.176943307G>C	ENSP00000422753:p.Leu94Val		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	hg19	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008160	0.75046	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.29142	1.58;1.59	5.38	4.5	0.54988	.	0.000000	0.64402	D	0.000003	T	0.48150	0.1484	L	0.56340	1.77	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	T	0.37244	-0.9714	10	0.42905	T	0.14	-23.2967	14.3294	0.66545	0.0725:0.0:0.9274:0.0	.	94	Q9UJV9	DDX41_HUMAN	V	112;94	ENSP00000330349:L112V;ENSP00000422753:L94V	ENSP00000330349:L112V	L	-	1	0	DDX41	176875913	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.218000	0.72224	2.513000	0.84729	0.491000	0.48974	CTT		0.582	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		C	176943307	G	C	176943307	3	2	122	1	0	0	0	0	1	0	0	0	4363	1000	35	4	1648	4	DDX41	5	176943307	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	9005627	176943307	3971953	26	7432											
DCDC2	51473	hgsc.bcm.edu	37	6	24357769	24357769	+	Silent	SNP	A	A	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr6:24357769A>T	ENST00000378454.3	-	1	511	c.210T>A	c.(208-210)acT>acA	p.T70T	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	70	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTCGGTGGCCAGTCCGCGGGG	0.597																																																0													39	38	38					6																	24357769		2203	4299	6502	SO:0001819	synonymous_variant	51473			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.210T>A	chr6.hg19:g.24357769A>T			Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Silent	SNP	ENST00000378454.3	hg19	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	A	4.106	0.017843	0.07959	.	.	ENSG00000146038	ENST00000436313	.	.	.	5.56	-4.43	0.03568	.	.	.	.	.	T	0.19248	0.0462	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41179	-0.9523	4	.	.	.	-10.2342	0.669	0.00856	0.2741:0.2931:0.2257:0.2071	.	.	.	.	Q	38	.	.	L	-	2	0	DCDC2	24465748	0.027000	0.19231	0.078000	0.20375	0.442000	0.32017	-0.787000	0.04618	-0.539000	0.06273	-1.491000	0.00971	CTG		0.597	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		T	24357769	A	T	24357769	2	4	122	1	0	0	0	0	0	0	0	1	4287	175	7	5		5	DCDC2	6	24357769	Silent	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10		24357769	146757298	27	7433											
LRFN2	57497	hgsc.bcm.edu	37	6	40399589	40399589	+	Missense_Mutation	SNP	G	G	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr6:40399589G>T	ENST00000338305.6	-	2	1806	c.1264C>A	c.(1264-1266)Ccg>Acg	p.P422T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	422	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCCGTTCCGGGGGGCTTTTG	0.642																																																0													44	48	47					6																	40399589		2203	4300	6503	SO:0001583	missense	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1264C>A	chr6.hg19:g.40399589G>T	ENSP00000345985:p.Pro422Thr		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	hg19	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400939	0.25291	.	.	ENSG00000156564	ENST00000338305	T	0.72282	-0.64	5.38	5.38	0.77491	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	L	0.50333	1.59	0.80722	D	1	B	0.19445	0.036	B	0.20577	0.03	T	0.51309	-0.8722	10	0.13853	T	0.58	.	16.6167	0.84918	0.0:0.0:1.0:0.0	.	422	Q9ULH4	LRFN2_HUMAN	T	422	ENSP00000345985:P422T	ENSP00000345985:P422T	P	-	1	0	LRFN2	40507567	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.578000	0.98200	2.525000	0.85131	0.561000	0.74099	CCG		0.642	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		T	40399589	G	T	40399589	3	4	122	1	0	0	0	0	1	0	0	0	8940	1232	43	4	1113	4	LRFN2	6	40399589	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	16041820	40399589	130715478	28	7434											
BVES	11149	hgsc.bcm.edu	37	6	105563684	105563684	+	Missense_Mutation	SNP	G	G	A	rs370149373		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr6:105563684G>A	ENST00000314641.5	-	7	1051	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	BVES_ENST00000446408.2_Missense_Mutation_p.H279Y|BVES_ENST00000336775.5_Missense_Mutation_p.H279Y	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	279					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTGAGCTGATGTTCCAGCTTT	0.443																																																0								G	TYR/HIS,TYR/HIS,TYR/HIS	0,4406		0,0,2203	145	121	129		835,835,835	4.8	1	6		129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BVES	NM_001199563.1,NM_007073.4,NM_147147.3	83,83,83	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	279/361,279/361,279/361	105563684	1,13005	2203	4300	6503	SO:0001583	missense	11149			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.835C>T	chr6.hg19:g.105563684G>A	ENSP00000313172:p.His279Tyr		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	hg19	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317534	0.23908	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17213	2.29;2.29;2.29	5.71	4.79	0.61399	.	0.279017	0.39544	N	0.001325	T	0.02688	0.0081	N	0.22421	0.69	0.27859	N	0.940468	P	0.40398	0.716	B	0.30495	0.116	T	0.34104	-0.9842	10	0.02654	T	1	-25.5861	13.3716	0.60717	0.0:0.0:0.7242:0.2758	.	279	Q8NE79	POPD1_HUMAN	Y	279	ENSP00000313172:H279Y;ENSP00000337259:H279Y;ENSP00000397310:H279Y	ENSP00000313172:H279Y	H	-	1	0	BVES	105670377	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	4.940000	0.63533	2.706000	0.92434	0.563000	0.77884	CAT		0.443	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		A	105563684	G	A	105563684	3	1	122	1	0	0	0	0	1	0	0	0	1577	1377	48	2	255	2	BVES	6	105563684	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	65164095	105563684	65551383	29	7435											
CITED2	10370	hgsc.bcm.edu	37	6	139694300	139694309	+	Frame_Shift_Del	DEL	CACACGAAGT	CACACGAAGT	-			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	CACACGAAGT	CACACGAAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr6:139694300_139694309delCACACGAAGT	ENST00000367651.2	-	2	988_997	c.773_782delACTTCGTGTG	c.(772-783)gacttcgtgtgcfs	p.DFVC258fs	CITED2_ENST00000537332.1_Frame_Shift_Del_p.DFVC258fs|CITED2_ENST00000536159.1_Frame_Shift_Del_p.DFVC258fs	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	258	Asp/Glu-rich (acidic).				adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CTGCTGTTTGCACACGAAGTCCGTCATAAA	0.49																																					NSCLC(98;1219 1550 33720 43229 49330)											0																																										SO:0001589	frameshift_variant	10370			U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.773_782delACTTCGTGTG	chr6.hg19:g.139694300_139694309delCACACGAAGT	ENSP00000356623:p.Asp258fs		O95426|Q5VTF4	Frame_Shift_Del	DEL	ENST00000367651.2	hg19	CCDS5195.1																																																																																				0.49	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			-	139694309	CACACGAAGT	-	139694300	7	5	122	1	0	1	0	1	0	0	0	0	3442	710	25	0	34	0	CITED2	6	139694300	Frame_Shift_Del	DEL	CACACGAAGT	TCGA-AT-A5NU-01A-11D-A28G-10	34130616	139694300	31420767	30	7436											
FBXL13	222235	hgsc.bcm.edu	37	7	102553614	102553614	+	Silent	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr7:102553614G>A	ENST00000313221.4	-	11	1353	c.927C>T	c.(925-927)ttC>ttT	p.F309F	FBXL13_ENST00000455112.2_Silent_p.F309F|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000436908.1_Silent_p.F309F|FBXL13_ENST00000379306.3_Silent_p.F309F|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000379305.3_Silent_p.F309F|FBXL13_ENST00000379308.3_Silent_p.F309F|FBXL13_ENST00000456695.1_Silent_p.F309F|FBXL13_ENST00000393772.2_Silent_p.F309F	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	309										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTTTGTCTGTGAACCGTCTGC	0.443																																																0													146	131	136					7																	102553614		2203	4300	6503	SO:0001819	synonymous_variant	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.927C>T	chr7.hg19:g.102553614G>A			C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	ENST00000313221.4	hg19	CCDS5726.1																																																																																				0.443	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		A	102553614	G	A	102553614	2	1	122	1	0	0	0	0	0	0	0	1	5711	1281	45	2		2	FBXL13	7	102553614	Silent	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10		102553614	56585049	31	7437											
LAMB1	3912	hgsc.bcm.edu	37	7	107605061	107605061	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr7:107605061G>C	ENST00000222399.6	-	14	1864	c.1634C>G	c.(1633-1635)cCt>cGt	p.P545R	LAMB1_ENST00000393561.1_Missense_Mutation_p.P569R|LAMB1_ENST00000393560.1_Missense_Mutation_p.P545R	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	545					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GTAGTAACCAGGTTCCACTTC	0.567																																																0													173	143	153					7																	107605061		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1634C>G	chr7.hg19:g.107605061G>C	ENSP00000222399:p.Pro545Arg		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	hg19	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614445	0.66672	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.63096	-0.02;-0.02;0.91	4.64	4.64	0.57946	EGF-like, laminin (3);	.	.	.	.	T	0.72606	0.3481	M	0.69463	2.115	0.38209	D	0.940402	B;B;B	0.33777	0.213;0.425;0.321	B;P;B	0.47645	0.229;0.553;0.126	T	0.76737	-0.2849	9	0.49607	T	0.09	.	17.501	0.87732	0.0:0.0:1.0:0.0	.	545;545;569	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	R	569;545;545	ENSP00000377191:P569R;ENSP00000222399:P545R;ENSP00000377190:P545R	ENSP00000222399:P545R	P	-	2	0	LAMB1	107392297	1.000000	0.71417	0.631000	0.29282	0.798000	0.45092	9.435000	0.97529	2.129000	0.65627	0.563000	0.77884	CCT		0.567	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		C	107605061	G	C	107605061	3	2	122	1	0	0	0	0	1	0	0	0	8612	1000	35	4	3810	4	LAMB1	7	107605061	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	5051447	107605061	51533602	32	7438											
ASAH1	427	hgsc.bcm.edu	37	8	17916973	17916973	+	Splice_Site	DEL	T	T	-			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr8:17916973delT	ENST00000262097.6	-	12	1229	c.918delA	c.(916-918)gaa>ga	p.E306fs	ASAH1_ENST00000314146.10_Splice_Site_p.E300fs|ASAH1_ENST00000520781.1_Splice_Site_p.E281fs|ASAH1_ENST00000417108.2_Splice_Site_p.E216fs|ASAH1_ENST00000381733.4_Splice_Site_p.E322fs	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	306					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TAGCATCGAGTCTAGATACAA	0.398																																																0													185	167	173					8																	17916973		2203	4300	6503	SO:0001630	splice_region_variant	427			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"N-acylsphingosine amidohydrolase (acid ceramidase)"	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.918-1A>-	chr8.hg19:g.17916973delT			E9PDS0|Q6W898|Q96AS2	Frame_Shift_Del	DEL	ENST00000262097.6	hg19	CCDS6006.1																																																																																				0.398	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315	Frame_Shift_Del	-	17916973	T	-	17916973	8	5	122	1	0	1	0	1	0	0	1	0	1006	1681	58	0	281	0	ASAH1	8	17916973	Splice_Site	DEL	T	TCGA-AT-A5NU-01A-11D-A28G-10		17916973	128447049	33	7439											
STMN4	81551	hgsc.bcm.edu	37	8	27097616	27097616	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr8:27097616delG	ENST00000265770.7	-	5	518	c.382delC	c.(382-384)caafs	p.Q128fs	STMN4_ENST00000522908.1_Frame_Shift_Del_p.Q155fs|STMN4_ENST00000350889.4_Frame_Shift_Del_p.Q155fs|STMN4_ENST00000519997.1_Frame_Shift_Del_p.Q119fs|STMN4_ENST00000523048.1_Frame_Shift_Del_p.Q155fs|STMN4_ENST00000519614.1_Frame_Shift_Del_p.Q128fs			Q9H169	STMN4_HUMAN	stathmin-like 4	128	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	ATGGCCTTTTGGATCACCTCT	0.512																																																0													220	205	210					8																	27097616		2203	4300	6503	SO:0001589	frameshift_variant	81551				CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.382delC	chr8.hg19:g.27097616delG	ENSP00000265770:p.Gln128fs		B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Frame_Shift_Del	DEL	ENST00000265770.7	hg19																																																																																					0.512	STMN4-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000375941.1	NM_030795		-	27097616	G	-	27097616	7	5	122	1	0	1	0	1	0	0	0	0	15316	1357	47	0	195	0	STMN4	8	27097616	Frame_Shift_Del	DEL	G	TCGA-AT-A5NU-01A-11D-A28G-10	9180643	27097616	119266406	34	7440											
FAM108B1	51104	hgsc.bcm.edu	37	9	74489541	74489541	+	Silent	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr9:74489541A>G	ENST00000333421.6	-	2	567	c.456T>C	c.(454-456)gcT>gcC	p.A152A	ABHD17B_ENST00000377041.2_Silent_p.A152A	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	152						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										TTGTCCTAAGAGCAAGCCAAG	0.353																																																0													53	49	50					9																	74489541		2203	4300	6503	SO:0001819	synonymous_variant	51104			AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.456T>C	chr9.hg19:g.74489541A>G			A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Silent	SNP	ENST00000333421.6	hg19	CCDS35043.1																																																																																				0.353	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		G	74489541	A	G	74489541	2	3	122	1	0	0	0	0	0	0	0	1	5394	291	11	3		3	FAM108B1	9	74489541	Silent	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10		74489541	66723890	35	7441											
FAM178A	55719	hgsc.bcm.edu	37	10	102675796	102675796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr10:102675796C>T	ENST00000238961.4	+	2	723	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	FAM178A_ENST00000370271.3_Nonsense_Mutation_p.Q61*|FAM178A_ENST00000370269.3_Nonsense_Mutation_p.Q61*	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	61						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AGCTTCAAAACAAGGTATGTA	0.333																																																0													145	150	148					10																	102675796		2203	4300	6503	SO:0001587	stop_gained	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.181C>T	chr10.hg19:g.102675796C>T	ENSP00000238961:p.Gln61*		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Nonsense_Mutation	SNP	ENST00000238961.4	hg19	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.510828	0.85389	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	.	.	.	5.65	5.65	0.86999	.	0.136815	0.34386	N	0.004001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-7.1251	16.8133	0.85726	0.0:1.0:0.0:0.0	.	.	.	.	X	61	.	ENSP00000238961:Q61X	Q	+	1	0	FAM178A	102665786	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	4.535000	0.60629	2.819000	0.97034	0.650000	0.86243	CAA		0.333	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			T	102675796	C	T	102675796	4	4	122	1	0	0	0	0	0	1	0	0	5505	479	17	2	187	2	FAM178A	10	102675796	Nonsense_Mutation	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10		102675796	32858951	36	7442											
WDR11	55717	hgsc.bcm.edu	37	10	122665493	122665493	+	Missense_Mutation	SNP	T	T	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr10:122665493T>A	ENST00000263461.6	+	27	3643	c.3397T>A	c.(3397-3399)Tct>Act	p.S1133T	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGTTCTCCTCTCTCTGGGCTG	0.512																																																0													117	106	110					10																	122665493		2203	4300	6503	SO:0001583	missense	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3397T>A	chr10.hg19:g.122665493T>A	ENSP00000263461:p.Ser1133Thr		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	hg19	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158729	0.57368	.	.	ENSG00000120008	ENST00000263461	D	0.91843	-2.92	5.63	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	L	0.58669	1.825	0.52501	D	0.999954	P;P;P;P	0.52842	0.956;0.956;0.911;0.682	D;D;P;B	0.65010	0.931;0.931;0.558;0.129	D	0.93073	0.6484	10	0.48119	T	0.1	-11.2569	11.9916	0.53178	0.1299:0.0:0.0:0.8701	.	1133;1133;424;662	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	T	1133	ENSP00000263461:S1133T	ENSP00000263461:S1133T	S	+	1	0	WDR11	122655483	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.888000	0.69758	0.923000	0.37045	0.455000	0.32223	TCT		0.512	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			A	122665493	T	A	122665493	3	1	122	1	0	0	0	0	1	0	0	0	17278	1551	54	5	3503	5	WDR11	10	122665493	Missense_Mutation	SNP	T	TCGA-AT-A5NU-01A-11D-A28G-10	19989697	122665493	12869254	37	7443											
OR5T2	219464	hgsc.bcm.edu	37	11	56000572	56000573	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr11:56000572_56000573delAA	ENST00000313264.4	-	1	164_165	c.89_90delTT	c.(88-90)tttfs	p.F30fs		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGATATGCATAAAGTTACAGTT	0.351																																																0																																										SO:0001589	frameshift_variant	219464			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.89_90delTT	chr11.hg19:g.56000572_56000573delAA	ENSP00000323688:p.Phe30fs		B9EGX5|Q6IFC8	Frame_Shift_Del	DEL	ENST00000313264.4	hg19	CCDS31523.1																																																																																				0.351	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		-	56000573	AA	-	56000572	7	5	122	1	0	1	0	1	0	0	0	0	11184	359	13	0	988	0	OR5T2	11	56000572	Frame_Shift_Del	DEL	AA	TCGA-AT-A5NU-01A-11D-A28G-10		56000572	79005944	38	7444											
CDC42BPG	55561	hgsc.bcm.edu	37	11	64603951	64603963	+	Frame_Shift_Del	DEL	CCAGCTGGGGGCC	CCAGCTGGGGGCC	-			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	CCAGCTGGGGGCC	CCAGCTGGGGGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr11:64603951_64603963delCCAGCTGGGGGCC	ENST00000342711.5	-	12	1423_1435	c.1424_1436delGGCCCCCAGCTGG	c.(1423-1437)gggcccccagctggtfs	p.GPPAG475fs		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ACCTGGGCTACCAGCTGGGGGCCCATCCGTCTG	0.653											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0																																										SO:0001589	frameshift_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1424_1436delGGCCCCCAGCTGG	chr11.hg19:g.64603951_64603963delCCAGCTGGGGGCC	ENSP00000345133:p.Gly475fs	1077		Frame_Shift_Del	DEL	ENST00000342711.5	hg19	CCDS31601.1																																																																																				0.653	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		-	64603963	CCAGCTGGGGGCC	-	64603951	7	5	122	1	0	1	0	1	0	0	0	0	3076	507	18	0	3323	0	CDC42BPG	11	64603951	Frame_Shift_Del	DEL	CCAGCTGGGGGCC	TCGA-AT-A5NU-01A-11D-A28G-10	8603379	64603951	70402565	39	7445											
TCIRG1	10312	hgsc.bcm.edu	37	11	67817430	67817430	+	Splice_Site	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr11:67817430A>G	ENST00000265686.3	+	17	2123	c.2015A>G	c.(2014-2016)gAg>gGg	p.E672G	RP11-802E16.3_ENST00000526897.1_RNA|TCIRG1_ENST00000532635.1_Splice_Site_p.E456G|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	672					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						ATGCCCCAGGAGGAAAACAAG	0.637																																																0													38	39	39					11																	67817430		2199	4292	6491	SO:0001630	splice_region_variant	10312			AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2014-1A>G	chr11.hg19:g.67817430A>G			O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	hg19	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	A	8.644	0.896745	0.17686	.	.	ENSG00000110719	ENST00000265686;ENST00000532635;ENST00000546315	D;D	0.89123	-1.95;-2.47	4.21	1.83	0.25207	.	1.186560	0.05814	N	0.614544	T	0.78666	0.4319	N	0.17082	0.46	0.45194	D	0.998206	B	0.02656	0.0	B	0.06405	0.002	T	0.64024	-0.6504	10	0.15066	T	0.55	-4.3465	6.3839	0.21550	0.7598:0.0:0.2402:0.0	.	672	Q13488	VPP3_HUMAN	G	672;456;30	ENSP00000265686:E672G;ENSP00000434407:E456G	ENSP00000265686:E672G	E	+	2	0	TCIRG1	67574006	0.009000	0.17119	0.006000	0.13384	0.156000	0.22039	0.207000	0.17395	0.671000	0.31185	0.379000	0.24179	GAG		0.637	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019	Missense_Mutation	G	67817430	A	G	67817430	5	3	122	1	0	0	0	0	0	0	1	0	15708	318	11	3	2077	3	TCIRG1	11	67817430	Splice_Site	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10	3213479	67817430	67189086	40	7446											
NAALAD2	10003	hgsc.bcm.edu	37	11	89868775	89868775	+	Missense_Mutation	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr11:89868775A>G	ENST00000534061.1	+	2	361	c.131A>G	c.(130-132)cAt>cGt	p.H44R	NAALAD2_ENST00000321955.4_Missense_Mutation_p.H44R|NAALAD2_ENST00000375944.3_Missense_Mutation_p.H44R|NAALAD2_ENST00000525171.1_Missense_Mutation_p.H44R	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	44					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGCGCTATCATCAAAGTATA	0.343																																																0													112	113	112					11																	89868775		2201	4299	6500	SO:0001583	missense	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.131A>G	chr11.hg19:g.89868775A>G	ENSP00000432481:p.His44Arg		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	hg19	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	A	7.614	0.675410	0.14841	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T;T	0.42513	0.97;1.39;1.53;1.01;2.81	5.08	-0.0308	0.13912	.	0.762404	0.12673	N	0.448598	T	0.21674	0.0522	N	0.20986	0.625	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.08055	0.0;0.003;0.001;0.001;0.0	T	0.18241	-1.0343	9	.	.	.	-1.591	2.7544	0.05289	0.5012:0.285:0.0769:0.1368	.	44;44;44;44;44	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	R	44	ENSP00000431989:H44R;ENSP00000432481:H44R;ENSP00000320083:H44R;ENSP00000435249:H44R;ENSP00000365111:H44R	.	H	+	2	0	NAALAD2	89508423	0.776000	0.28616	0.094000	0.20943	0.701000	0.40568	0.409000	0.21082	-0.159000	0.11021	-0.305000	0.09177	CAT		0.343	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		G	89868775	A	G	89868775	3	3	122	1	0	0	0	0	1	0	0	0	10130	217	8	3	137	3	NAALAD2	11	89868775	Missense_Mutation	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10	22051345	89868775	45137741	41	7447											
NT5DC3	51559	hgsc.bcm.edu	37	12	104182695	104182695	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr12:104182695G>C	ENST00000392876.3	-	10	1062	c.1022C>G	c.(1021-1023)cCt>cGt	p.P341R		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	341						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CTTTCGGAAAGGCCTAACAAC	0.423																																																0													192	183	186					12																	104182695		2203	4300	6503	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1022C>G	chr12.hg19:g.104182695G>C	ENSP00000376615:p.Pro341Arg		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	hg19	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625073	0.87560	.	.	ENSG00000111696	ENST00000392876	T	0.26223	1.75	6.07	6.07	0.98685	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60622	-0.7227	10	0.59425	D	0.04	-12.7708	20.6593	0.99626	0.0:0.0:1.0:0.0	.	341	Q86UY8	NT5D3_HUMAN	R	341	ENSP00000376615:P341R	ENSP00000376615:P341R	P	-	2	0	NT5DC3	102706825	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.515000	0.98015	2.885000	0.99019	0.655000	0.94253	CCT		0.423	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		C	104182695	G	C	104182695	3	2	122	1	0	0	0	0	1	0	0	0	10694	1000	35	4	644	4	NT5DC3	12	104182695	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10		104182695	29669200	42	7448											
C13orf15	28984	hgsc.bcm.edu	37	13	42031876	42031876	+	Silent	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr13:42031876G>A	ENST00000379359.3	+	1	182	c.33G>A	c.(31-33)gcG>gcA	p.A11A		NM_014059.2	NP_054778.2	Q9H4X1	RGCC_HUMAN	regulator of cell cycle	11	Ala-rich.				cellular response to hypoxia (GO:0071456)|complement activation (GO:0006956)|fibroblast activation (GO:0072537)|mitotic cell cycle arrest (GO:0071850)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of exit from mitosis (GO:0001100)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mitotic cell cycle phase transition (GO:1901991)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of mitosis (GO:0045840)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stress fiber assembly (GO:0051496)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)										gcagccccgcggccgccgcgg	0.741																																																0													1	1	1					13																	42031876		410	1255	1665	SO:0001819	synonymous_variant	28984			AF036549	CCDS41880.1	13q14.11	2012-02-20	2012-02-20	2012-02-20	ENSG00000102760	ENSG00000102760			20369	protein-coding gene	gene with protein product	"response gene to complement 32"	610077	"chromosome 13 open reading frame 15"	C13orf15		17146433, 19158077, 19652095	Standard	NM_014059		Approved	bA157L14.2, RGC-32, RGC32	uc001uyi.2	Q9H4X1	OTTHUMG00000016796	ENST00000379359.3:c.33G>A	chr13.hg19:g.42031876G>A			Q6NZ48|Q9UL69	Silent	SNP	ENST00000379359.3	hg19	CCDS41880.1																																																																																				0.741	RGCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044684.1	NM_014059		A	42031876	G	A	42031876	2	1	122	1	0	0	0	0	0	0	0	1	1720	1103	39	1		1	C13orf15	13	42031876	Silent	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10		42031876	73138002	43	7449											
NKX2-1	7080	hgsc.bcm.edu	37	14	36988288	36988288	+	Missense_Mutation	SNP	C	C	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr14:36988288C>A	ENST00000518149.1	-	2	880	c.275G>T	c.(274-276)gGc>gTc	p.G92V	NKX2-1_ENST00000354822.5_Missense_Mutation_p.G122V|NKX2-1-AS1_ENST00000521292.2_RNA|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.G92V|NKX2-1_ENST00000498187.2_Missense_Mutation_p.G92V			P43699	NKX21_HUMAN	NK2 homeobox 1	92					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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 migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G92D(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GCTCATGTTGCCCAGGTTGCC	0.716			A		NSCLC																																		Dom	yes		14	14q13	7080	NK2 homeobox 1		E	1	Substitution - Missense(1)	skin(1)											10	14	13					14																	36988288		2088	4220	6308	SO:0001583	missense	7080				CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"Homeoboxes / ANTP class : NKL subclass"	11825	protein-coding gene	gene with protein product		600635	"benign chorea", "thyroid transcription factor 1"	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.275G>T	chr14.hg19:g.36988288C>A	ENSP00000428341:p.Gly92Val		D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	hg19	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357912	0.82243	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	D;D;D;D	0.91521	-2.86;-2.82;-2.82;-2.82	4.7	4.7	0.59300	.	0.056339	0.64402	D	0.000001	D	0.94843	0.8334	M	0.84683	2.71	0.80722	D	1	D;P	0.57257	0.979;0.935	P;P	0.59546	0.859;0.544	D	0.94962	0.8109	10	0.49607	T	0.09	.	16.7821	0.85565	0.0:1.0:0.0:0.0	.	122;92	P43699-3;P43699	.;NKX21_HUMAN	V	122;92;92;92	ENSP00000346879:G122V;ENSP00000429607:G92V;ENSP00000428341:G92V;ENSP00000429519:G92V	ENSP00000346879:G122V	G	-	2	0	NKX2-1	36058039	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.934000	0.75880	2.442000	0.82660	0.455000	0.32223	GGC		0.716	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		A	36988288	C	A	36988288	3	1	122	1	0	0	0	0	1	0	0	0	10451	739	26	4	848	4	NKX2-1	14	36988288	Missense_Mutation	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10		36988288	70361252	44	7450											
ARID4A	5926	hgsc.bcm.edu	37	14	58796735	58796735	+	Missense_Mutation	SNP	A	A	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr14:58796735A>C	ENST00000355431.3	+	11	1127	c.754A>C	c.(754-756)Agc>Cgc	p.S252R	ARID4A_ENST00000431317.2_Missense_Mutation_p.S252R|ARID4A_ENST00000395168.3_Missense_Mutation_p.S252R|ARID4A_ENST00000348476.3_Missense_Mutation_p.S252R	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	252					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCAGAAAGCAAGCATCTTCTT	0.388																																																0													97	104	101					14																	58796735		2203	4300	6503	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.754A>C	chr14.hg19:g.58796735A>C	ENSP00000347602:p.Ser252Arg		Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	hg19	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284422	0.59867	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	6.07	4.94	0.65067	RBB1NT (1);	0.208574	0.64402	D	0.000015	T	0.24851	0.0603	L	0.57536	1.79	0.39498	D	0.96815	P;B;P	0.46277	0.875;0.139;0.702	P;B;P	0.52454	0.699;0.394;0.556	T	0.01420	-1.1359	10	0.42905	T	0.14	-12.6657	12.3445	0.55114	0.9343:0.0:0.0657:0.0	.	252;252;252	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	R	252;252;252;215;252	ENSP00000347602:S252R;ENSP00000344556:S252R;ENSP00000378597:S252R;ENSP00000397368:S252R	ENSP00000344556:S252R	S	+	1	0	ARID4A	57866488	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.593000	0.54001	1.112000	0.41740	-0.274000	0.10170	AGC		0.388	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		C	58796735	A	C	58796735	3	2	122	1	0	0	0	0	1	0	0	0	919	72	3	5	792	5	ARID4A	14	58796735	Missense_Mutation	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10	21808447	58796735	48552805	45	7451											
TTC8	123016	hgsc.bcm.edu	37	14	89338717	89338717	+	Missense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr14:89338717C>T	ENST00000345383.5	+	12	1322	c.1238C>T	c.(1237-1239)gCt>gTt	p.A413V	TTC8_ENST00000358622.5_Missense_Mutation_p.A225V|TTC8_ENST00000536576.1_Missense_Mutation_p.A184V|TTC8_ENST00000338104.6_Missense_Mutation_p.A439V|TTC8_ENST00000354441.6_Missense_Mutation_p.A158V|TTC8_ENST00000380656.2_Missense_Mutation_p.A423V|TTC8_ENST00000346301.4_Missense_Mutation_p.A383V	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	449					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTCAGGCTGGCTCTGGTCAAC	0.532																																																0													123	105	111					14																	89338717		2203	4300	6503	SO:0001583	missense	123016			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1238C>T	chr14.hg19:g.89338717C>T	ENSP00000339486:p.Ala413Val		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	hg19	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.900692|4.900692	0.92035|0.92035	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	T;T;T;T;T;T;T|.	0.74106|.	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.101143|.	0.64402|.	D|.	0.000002|.	D|D	0.85733|0.85733	0.5765|0.5765	M|M	0.89904|0.89904	3.07|3.07	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P;P;P|.	0.48089|.	0.905;0.604;0.885;0.55;0.685|.	P;B;P;B;B|.	0.47346|.	0.544;0.394;0.492;0.382;0.382|.	D|D	0.87391|0.87391	0.2363|0.2363	10|5	0.41790|.	T|.	0.15|.	-15.7808|-15.7808	19.96|19.96	0.97242|0.97242	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	158;184;449;393;423|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	V|F	413;184;383;439;158;423;225|373	ENSP00000339486:A413V;ENSP00000445067:A184V;ENSP00000298324:A383V;ENSP00000337653:A439V;ENSP00000346427:A158V;ENSP00000370031:A423V;ENSP00000351439:A225V|.	ENSP00000337653:A439V|.	A|L	+|+	2|1	0|0	TTC8|TTC8	88408470|88408470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.670000|5.670000	0.68088|0.68088	2.793000|2.793000	0.96121|0.96121	0.561000|0.561000	0.74099|0.74099	GCT|CTC		0.532	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		T	89338717	C	T	89338717	3	4	122	1	0	0	0	0	1	0	0	0	16719	797	28	2	1318	2	TTC8	14	89338717	Missense_Mutation	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	30541982	89338717	18010823	46	7452											
TRPM1	4308	hgsc.bcm.edu	37	15	31342655	31342655	+	Missense_Mutation	SNP	A	A	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr15:31342655A>T	ENST00000256552.6	-	12	1541	c.1394T>A	c.(1393-1395)gTg>gAg	p.V465E	TRPM1_ENST00000542188.1_Missense_Mutation_p.V482E|TRPM1_ENST00000397795.2_Missense_Mutation_p.V443E	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		Ttcttcctccacttcctcttt	0.542																																																0													208	217	214					15																	31342655		2000	4152	6152	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1394T>A	chr15.hg19:g.31342655A>T	ENSP00000256552:p.Val465Glu			Missense_Mutation	SNP	ENST00000256552.6	hg19	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	A	3.172	-0.169735	0.06461	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.72051	-0.62;-0.62;-0.62	4.8	-0.746	0.11095	.	0.495264	0.20727	N	0.086800	T	0.44074	0.1276	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.12156	0.007;0.003	T	0.29822	-0.9999	10	0.66056	D	0.02	-6.1648	5.5491	0.17081	0.5174:0.0:0.3552:0.1273	.	437;443	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	E	443;482;465;443	ENSP00000380897:V443E;ENSP00000437849:V482E;ENSP00000256552:V465E	ENSP00000256552:V465E	V	-	2	0	TRPM1	29129947	0.010000	0.17322	0.812000	0.32479	0.123000	0.20343	0.172000	0.16704	-0.389000	0.07786	-1.843000	0.00578	GTG		0.542	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31342655	A	T	31342655	3	4	122	1	0	0	0	0	1	0	0	0	16590	159	6	5	3551	5	TRPM1	15	31342655	Missense_Mutation	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10		31342655	71188737	47	7453											
AQR	9716	hgsc.bcm.edu	37	15	35189882	35189882	+	Silent	SNP	T	T	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr15:35189882T>G	ENST00000156471.5	-	21	2493	c.2268A>C	c.(2266-2268)ggA>ggC	p.G756G		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	756					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTTCCCTTTTCCACTTCTTA	0.393																																																0													111	102	105					15																	35189882		1844	4108	5952	SO:0001819	synonymous_variant	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2268A>C	chr15.hg19:g.35189882T>G			A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	hg19	CCDS42013.1																																																																																				0.393	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		G	35189882	T	G	35189882	2	3	122	1	0	0	0	0	0	0	0	1	835	1770	62	5		5	AQR	15	35189882	Silent	SNP	T	TCGA-AT-A5NU-01A-11D-A28G-10	3847227	35189882	67341510	48	7454											
CDH11	1009	hgsc.bcm.edu	37	16	64981793	64981793	+	Missense_Mutation	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr16:64981793A>G	ENST00000268603.4	-	13	2719	c.2104T>C	c.(2104-2106)Tac>Cac	p.Y702H	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.Y576H	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	702					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y702H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTAGGCATGTACTGATACTCA	0.522			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	1	Substitution - Missense(1)	large_intestine(1)											135	128	130					16																	64981793		2203	4300	6503	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2104T>C	chr16.hg19:g.64981793A>G	ENSP00000268603:p.Tyr702His		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	hg19	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.715271	0.48622	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.76060	-0.99	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.054697	0.85682	D	0.000000	T	0.76054	0.3934	L	0.31926	0.97	0.80722	D	1	D	0.55800	0.973	P	0.59115	0.852	T	0.71182	-0.4668	10	0.15499	T	0.54	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	702	P55287	CAD11_HUMAN	H	702;685	ENSP00000268603:Y702H	ENSP00000268603:Y702H	Y	-	1	0	CDH11	63539294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TAC		0.522	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		G	64981793	A	G	64981793	3	3	122	1	0	0	0	0	1	0	0	0	3099	391	14	3	290	3	CDH11	16	64981793	Missense_Mutation	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10		64981793	25372960	49	7455											
SERPINF1	5176	hgsc.bcm.edu	37	17	1679947	1679953	+	Frame_Shift_Del	DEL	GAGAACT	GAGAACT	-	rs146939364	byFrequency	TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	GAGAACT	GAGAACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr17:1679947_1679953delGAGAACT	ENST00000254722.4	+	7	1071_1077	c.908_914delGAGAACT	c.(907-915)cgagaactgfs	p.REL303fs		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	303					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L305V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GACATAGACCGAGAACTGAAGACCGTG	0.512																																																1	Substitution - Missense(1)	stomach(1)																																								SO:0001589	frameshift_variant	5176			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.908_914delGAGAACT	chr17.hg19:g.1679947_1679953delGAGAACT	ENSP00000254722:p.Arg303fs		F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Frame_Shift_Del	DEL	ENST00000254722.4	hg19	CCDS11012.1																																																																																				0.512	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		-	1679953	GAGAACT	-	1679947	7	5	122	1	0	1	0	1	0	0	0	0	14120	1058	37	0	930	0	SERPINF1	17	1679947	Frame_Shift_Del	DEL	GAGAACT	TCGA-AT-A5NU-01A-11D-A28G-10		1679947	79515263	50	7456											
WDR16	146845	hgsc.bcm.edu	37	17	9501596	9501596	+	Silent	SNP	C	C	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr17:9501596C>A	ENST00000352665.5	+	5	651	c.582C>A	c.(580-582)atC>atA	p.I194I	WDR16_ENST00000299764.5_Silent_p.I204I|WDR16_ENST00000396219.3_Silent_p.I126I	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATAGAAAAATCTGGCCAACTG	0.328																																																0													92	98	96					17																	9501596		2203	4300	6503	SO:0001819	synonymous_variant	146845			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.582C>A	chr17.hg19:g.9501596C>A				Silent	SNP	ENST00000352665.5	hg19	CCDS11149.2																																																																																				0.328	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		A	9501596	C	A	9501596	2	1	122	1	0	0	0	0	0	0	0	1	17281	903	32	4		4	WDR16	17	9501596	Silent	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	7821649	9501596	71693614	51	7457											
MFSD11	79157	hgsc.bcm.edu	37	17	74738356	74738356	+	Splice_Site	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr17:74738356G>A	ENST00000588460.1	+	5	2479		c.e5+1		MFSD11_ENST00000355954.3_Intron|MFSD11_ENST00000586622.1_Splice_Site|MFSD11_ENST00000590514.1_Splice_Site|MFSD11_ENST00000336509.4_Splice_Site|MFSD11_ENST00000593181.1_Intron	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGCAGTCTAGGTAATTATCCT	0.403																																																0													140	140	140					17																	74738356		2203	4300	6503	SO:0001630	splice_region_variant	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.437+1G>A	chr17.hg19:g.74738356G>A			O43442|Q9NXI5	Splice_Site	SNP	ENST00000588460.1	hg19	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234688	0.79800	.	.	ENSG00000092931	ENST00000336509	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9326	0.97124	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFSD11	72249951	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.471000	0.97696	2.720000	0.93068	0.650000	0.86243	.		0.403	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311	Intron	A	74738356	G	A	74738356	5	1	122	1	0	0	0	0	0	0	1	0	9531	1275	44	2	456	2	MFSD11	17	74738356	Splice_Site	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	65236760	74738356	6456854	52	7458											
CABLES1	91768	hgsc.bcm.edu	37	18	20768825	20768825	+	Missense_Mutation	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr18:20768825C>T	ENST00000256925.7	+	2	869	c.869C>T	c.(868-870)tCt>tTt	p.S290F	CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.S25F|CABLES1_ENST00000585061.1_3'UTR	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	290	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCCAGAGATCTTCCTTGGAG	0.433																																																0													67	63	64					18																	20768825		1814	4069	5883	SO:0001583	missense	91768			BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.869C>T	chr18.hg19:g.20768825C>T	ENSP00000256925:p.Ser290Phe		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	hg19	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817292	0.90790	.	.	ENSG00000134508	ENST00000256925;ENST00000420687	T;T	0.50548	0.74;0.78	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.83275	0.989;0.996	T	0.66705	-0.5856	10	0.87932	D	0	-11.7652	19.4124	0.94679	0.0:1.0:0.0:0.0	.	25;290	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	F	290;25	ENSP00000256925:S290F;ENSP00000413851:S25F	ENSP00000256925:S290F	S	+	2	0	CABLES1	19022823	1.000000	0.71417	0.958000	0.39756	0.852000	0.48524	7.345000	0.79337	2.595000	0.87683	0.556000	0.70494	TCT		0.433	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		T	20768825	C	T	20768825	3	4	122	1	0	0	0	0	1	0	0	0	2531	913	32	2	929	2	CABLES1	18	20768825	Missense_Mutation	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10		20768825	57308423	53	7459											
FHOD3	80206	hgsc.bcm.edu	37	18	34310626	34310626	+	Silent	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr18:34310626A>G	ENST00000359247.4	+	16	2859	c.2859A>G	c.(2857-2859)ggA>ggG	p.G953G	FHOD3_ENST00000257209.4_Silent_p.G970G|FHOD3_ENST00000590592.1_Silent_p.G1145G|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000445677.1_Silent_p.G932G|FHOD3_ENST00000591635.1_Silent_p.G166G	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	953	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGCAGATGGAAAAAGGCAAG	0.413																																																0													113	105	108					18																	34310626		2203	4300	6503	SO:0001819	synonymous_variant	80206			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2859A>G	chr18.hg19:g.34310626A>G			A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	hg19																																																																																					0.413	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		G	34310626	A	G	34310626	2	3	122	1	0	0	0	0	0	0	0	1	5885	233	9	3		3	FHOD3	18	34310626	Silent	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10	13541801	34310626	43766622	54	7460											
ABCA7	10347	hgsc.bcm.edu	37	19	1041554	1041554	+	Missense_Mutation	SNP	A	A	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:1041554A>T	ENST00000263094.6	+	3	343	c.112A>T	c.(112-114)Atc>Ttc	p.I38F	AC011558.5_ENST00000585757.1_RNA|ABCA7_ENST00000433129.1_Missense_Mutation_p.I38F|ABCA7_ENST00000435683.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	38					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTTCTTCATCCTGGTGGC	0.637																																																0													103	107	106					19																	1041554		2203	4300	6503	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.112A>T	chr19.hg19:g.1041554A>T	ENSP00000263094:p.Ile38Phe		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.986185	0.93044	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000531467;ENST00000433129	D;D;D;D	0.99194	-5.54;-5.54;-5.54;-5.54	4.78	4.78	0.61160	.	.	.	.	.	D	0.98839	0.9608	L	0.53729	1.69	0.47905	D	0.999542	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	D	0.99744	1.1016	9	0.87932	D	0	.	12.2354	0.54512	1.0:0.0:0.0:0.0	.	38;38	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	F	38;38;36;38	ENSP00000263094:I38F;ENSP00000431473:I38F;ENSP00000433545:I36F;ENSP00000414062:I38F	ENSP00000263094:I38F	I	+	1	0	ABCA7	992554	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	5.979000	0.70508	1.794000	0.52575	0.460000	0.39030	ATC		0.637	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1041554	A	T	1041554	3	4	122	1	0	0	0	0	1	0	0	0	37	217	8	5	118	5	ABCA7	19	1041554	Missense_Mutation	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10		1041554	58087429	55	7461											
EVI5L	115704	hgsc.bcm.edu	37	19	7927064	7927064	+	Silent	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:7927064C>T	ENST00000270530.4	+	15	1864	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	EVI5L_ENST00000538904.2_Silent_p.G567G	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	556					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						TGGTCGTGGGCGAGCTGCAGG	0.731																																																0													5	6	6					19																	7927064		2077	4154	6231	SO:0001819	synonymous_variant	115704			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1668C>T	chr19.hg19:g.7927064C>T			B9A6I9	Silent	SNP	ENST00000270530.4	hg19	CCDS12188.1																																																																																				0.731	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		T	7927064	C	T	7927064	2	4	122	1	0	0	0	0	0	0	0	1	5292	755	27	1		1	EVI5L	19	7927064	Silent	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	6885510	7927064	51201919	56	7462											
TSHZ3	57616	hgsc.bcm.edu	37	19	31768208	31768208	+	Missense_Mutation	SNP	C	C	T	rs201694059		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:31768208C>T	ENST00000240587.4	-	2	2818	c.2491G>A	c.(2491-2493)Gta>Ata	p.V831I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	831					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGAATGATACGACGGCAGAT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19141	0.001		0.0	False		,,,				2504	0.0															0													143	130	135					19																	31768208		2203	4300	6503	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2491G>A	chr19.hg19:g.31768208C>T	ENSP00000240587:p.Val831Ile		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	hg19	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465152	0.43839	.	.	ENSG00000121297	ENST00000240587	T	0.11930	2.73	5.37	4.32	0.51571	.	0.118294	0.56097	D	0.000026	T	0.07593	0.0191	N	0.08118	0	0.48040	D	0.999571	B	0.21452	0.056	B	0.16722	0.016	T	0.33420	-0.9869	10	0.23302	T	0.38	-9.1996	14.4459	0.67349	0.0:0.9276:0.0:0.0723	.	831	Q63HK5	TSH3_HUMAN	I	831	ENSP00000240587:V831I	ENSP00000240587:V831I	V	-	1	0	TSHZ3	36460048	1.000000	0.71417	0.961000	0.40146	0.937000	0.57800	5.745000	0.68672	2.501000	0.84356	0.655000	0.94253	GTA		0.527	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		T	31768208	C	T	31768208	3	4	122	1	0	0	0	0	1	0	0	0	16630	536	19	1	758	1	TSHZ3	19	31768208	Missense_Mutation	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	23841144	31768208	27360775	57	7463											
ZNF181	339318	hgsc.bcm.edu	37	19	35231657	35231657	+	Missense_Mutation	SNP	T	T	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:35231657T>C	ENST00000492450.1	+	4	460	c.371T>C	c.(370-372)aTa>aCa	p.I124T	ZNF181_ENST00000459757.2_Missense_Mutation_p.I123T|ZNF181_ENST00000392232.3_Missense_Mutation_p.I168T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTGGAATATATAGAGAAGTTG	0.348																																																0													45	50	48					19																	35231657		2194	4294	6488	SO:0001583	missense	339318			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.371T>C	chr19.hg19:g.35231657T>C	ENSP00000420727:p.Ile124Thr		B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	hg19	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.579817	0.00129	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.05717	3.4;3.49;3.46	2.89	-0.737	0.11129	.	.	.	.	.	T	0.04182	0.0116	L	0.38175	1.15	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.46119	-0.9214	9	0.23302	T	0.38	.	1.2006	0.01884	0.1774:0.117:0.3517:0.3539	.	123;124	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	T	168;123;124;123	ENSP00000376065:I168T;ENSP00000420727:I124T;ENSP00000419435:I123T	ENSP00000376065:I168T	I	+	2	0	ZNF181	39923497	0.286000	0.24305	0.000000	0.03702	0.058000	0.15608	0.956000	0.29202	-0.238000	0.09724	-0.512000	0.04463	ATA		0.348	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		C	35231657	T	C	35231657	3	2	122	1	0	0	0	0	1	0	0	0	17754	1406	49	3	385	3	ZNF181	19	35231657	Missense_Mutation	SNP	T	TCGA-AT-A5NU-01A-11D-A28G-10	3463449	35231657	23897326	58	7464											
CATSPERG	57828	hgsc.bcm.edu	37	19	38850108	38850108	+	Splice_Site	SNP	A	A	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:38850108A>T	ENST00000409235.3	+	14	1611		c.e14-1		CATSPERG_ENST00000410018.1_Splice_Site|CATSPERG_ENST00000215069.4_Intron|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma						cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTGTCCCTGCAGCTCTAACAA	0.527																																																0													75	61	66					19																	38850108		2203	4300	6503	SO:0001630	splice_region_variant	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1497-1A>T	chr19.hg19:g.38850108A>T			A6NEG6|Q659E1	Splice_Site	SNP	ENST00000409235.3	hg19	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426002	0.43020	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1118	0.53844	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CATSPERG	43541948	1.000000	0.71417	0.268000	0.24571	0.124000	0.20399	5.184000	0.65070	2.172000	0.68678	0.533000	0.62120	.		0.527	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	Intron	T	38850108	A	T	38850108	5	4	122	1	0	0	0	0	0	0	1	0	2694	202	7	5	1545	5	CATSPERG	19	38850108	Splice_Site	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10	3618451	38850108	20278875	59	7465											
SUPT5H	6829	hgsc.bcm.edu	37	19	39966780	39966780	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:39966780G>C	ENST00000599117.1	+	30	3451	c.3084G>C	c.(3082-3084)gaG>gaC	p.E1028D	SUPT5H_ENST00000359191.6_Missense_Mutation_p.E1024D|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E1028D|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E1028D|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E1024D			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1028					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTCCAGTGAGCACCTGGAGC	0.577																																																0													90	72	79					19																	39966780		2203	4300	6503	SO:0001583	missense	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.3084G>C	chr19.hg19:g.39966780G>C	ENSP00000470252:p.Glu1028Asp		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	hg19	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	9.397	1.076981	0.20227	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.42	-0.361	0.12564	.	0.102463	0.64402	D	0.000003	T	0.25901	0.0631	N	0.16201	0.385	0.51233	D	0.999916	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.03202	-1.1061	8	.	.	.	-29.1312	4.6807	0.12734	0.3392:0.0:0.5198:0.1409	.	1024;1028	O00267-2;O00267	.;SPT5H_HUMAN	D	1028;1024;1006;1028	.	.	E	+	3	2	SUPT5H	44658620	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	0.154000	0.16343	0.130000	0.18549	0.462000	0.41574	GAG		0.577	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		C	39966780	G	C	39966780	3	2	122	1	0	0	0	0	1	0	0	0	15404	962	34	4	3194	4	SUPT5H	19	39966780	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	1116672	39966780	19162203	60	7466											
CCDC9	26093	hgsc.bcm.edu	37	19	47763935	47763935	+	Missense_Mutation	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:47763935G>A	ENST00000221922.6	+	5	523	c.301G>A	c.(301-303)Ggc>Agc	p.G101S		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	101	Gly-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		ACAGCAGGGAGGCCGGGCCGG	0.756																																																0													13	15	14					19																	47763935		1920	4024	5944	SO:0001583	missense	26093			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.301G>A	chr19.hg19:g.47763935G>A	ENSP00000221922:p.Gly101Ser			Missense_Mutation	SNP	ENST00000221922.6	hg19	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	-	10.73	1.433672	0.25813	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.31769	1.48	3.32	2.26	0.28386	.	0.589357	0.16586	N	0.207978	T	0.26048	0.0635	L	0.54323	1.7	0.27250	N	0.958919	P	0.40180	0.705	B	0.40864	0.342	T	0.08046	-1.0741	10	0.25751	T	0.34	-10.5089	5.4967	0.16807	0.2634:0.0:0.7366:0.0	.	101	Q9Y3X0	CCDC9_HUMAN	S	101	ENSP00000221922:G101S	ENSP00000221922:G101S	G	+	1	0	CCDC9	52455775	0.926000	0.31397	0.964000	0.40570	0.633000	0.38033	1.380000	0.34351	0.731000	0.32448	0.431000	0.28591	GGC		0.756	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		A	47763935	G	A	47763935	3	1	122	1	0	0	0	0	1	0	0	0	2869	1000	35	2	315	2	CCDC9	19	47763935	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	7797155	47763935	11365048	61	7467											
GLTSCR1	29998	hgsc.bcm.edu	37	19	48205552	48205552	+	Silent	SNP	C	C	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr19:48205552C>T	ENST00000396720.3	+	15	4757	c.4563C>T	c.(4561-4563)ccC>ccT	p.P1521P	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1521										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CGCCCGCGCCCTCGTACCCCC	0.741																																																0													11	13	12					19																	48205552		2094	4176	6270	SO:0001819	synonymous_variant	29998			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.4563C>T	chr19.hg19:g.48205552C>T			A8MW01	Silent	SNP	ENST00000396720.3	hg19	CCDS46134.1																																																																																				0.741	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		T	48205552	C	T	48205552	2	4	122	1	0	0	0	0	0	0	0	1	6476	668	24	2		2	GLTSCR1	19	48205552	Silent	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	441617	48205552	10923431	62	7468											
OLIG1	116448	hgsc.bcm.edu	37	21	34442850	34442850	+	Missense_Mutation	SNP	G	G	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr21:34442850G>C	ENST00000382348.1	+	1	401	c.298G>C	c.(298-300)Gag>Cag	p.E100Q	OLIG1_ENST00000333063.5_Missense_Mutation_p.E84Q|AP000282.2_ENST00000420356.1_RNA|AP000282.2_ENST00000454622.1_RNA	NM_138983.2	NP_620450.2	Q8TAK6	OLIG1_HUMAN	oligodendrocyte transcription factor 1	100					neuron fate commitment (GO:0048663)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)	1						ggACGCCAAGGAGGAGCAGCA	0.746																																																0													4	5	5					21																	34442850		1905	3895	5800	SO:0001583	missense	116448			AP000109	CCDS42920.1, CCDS42920.2	21q22.11	2013-05-21			ENSG00000184221	ENSG00000184221		"Basic helix-loop-helix proteins"	16983	protein-coding gene	gene with protein product	"oligodendrocyte-specific bHLH transcription factor 1", "oligodendrocyte lineage transcription factor 1", "basic domain, helix-loop-helix protein, class B, 6"	606385				11526205	Standard	NM_138983		Approved	BHLHB6, bHLHe21	uc002yqz.3	Q8TAK6	OTTHUMG00000065064	ENST00000382348.1:c.298G>C	chr21.hg19:g.34442850G>C	ENSP00000371785:p.Glu100Gln		Q7RTS0	Missense_Mutation	SNP	ENST00000382348.1	hg19	CCDS42920.2	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691676	0.48097	.	.	ENSG00000184221	ENST00000382348;ENST00000333063	D;D	0.98585	-5.01;-2.75	4.35	3.45	0.39498	.	0.466103	0.16859	U	0.196606	D	0.93802	0.8018	N	0.14661	0.345	0.29416	N	0.860923	P	0.38978	0.652	B	0.39027	0.288	D	0.90917	0.4780	10	0.33940	T	0.23	-11.8771	8.2305	0.31595	0.0932:0.1572:0.7496:0.0	.	100	Q8TAK6	OLIG1_HUMAN	Q	100;84	ENSP00000371785:E100Q;ENSP00000331066:E84Q	ENSP00000331066:E84Q	E	+	1	0	OLIG1	33364720	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	3.498000	0.53302	1.996000	0.58369	0.479000	0.44913	GAG		0.746	OLIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139730.1	NM_138983		C	34442850	G	C	34442850	3	2	122	1	0	0	0	0	1	0	0	0	10862	1175	41	4	300	4	OLIG1	21	34442850	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10		34442850	13687045	63	7469											
KRTAP10-3	386682	hgsc.bcm.edu	37	21	45978023	45978023	+	Silent	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr21:45978023G>A	ENST00000391620.1	-	1	620	c.576C>T	c.(574-576)gcC>gcT	p.A192A	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	192	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						ACACGCAGGAGGCCGGGCGGC	0.721																																																0													32	39	36					21																	45978023		2200	4298	6498	SO:0001819	synonymous_variant	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.576C>T	chr21.hg19:g.45978023G>A			A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	hg19	CCDS42956.1																																																																																				0.721	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			A	45978023	G	A	45978023	2	1	122	1	0	0	0	0	0	0	0	1	8512	987	35	2		2	KRTAP10-3	21	45978023	Silent	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	11535173	45978023	2151872	64	7470											
SEC14L2	23541	hgsc.bcm.edu	37	22	30818390	30818391	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr22:30818390_30818391insA	ENST00000312932.9	+	12	1466_1467	c.1206_1207insA	c.(1207-1209)aaafs	p.K403fs	RP4-539M6.21_ENST00000608952.1_RNA|RP4-539M6.19_ENST00000439838.1_Intron|SEC14L2_ENST00000403484.1_Frame_Shift_Ins_p.K329fs|SEC14L2_ENST00000402592.3_Frame_Shift_Ins_p.K320fs|RP4-539M6.20_ENST00000608677.1_RNA|RNU6-564P_ENST00000410983.1_RNA	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	403					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CAGGCACCCCGAAATAACACCT	0.515																																																0																																										SO:0001589	frameshift_variant	23541			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.1209dupA	chr22.hg19:g.30818393_30818393dupA	ENSP00000316203:p.Lys403fs		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Frame_Shift_Ins	INS	ENST00000312932.9	hg19	CCDS13876.1																																																																																				0.515	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		A	30818391	-	A	30818390	7	5	122	1	0	1	1	0	0	0	0	0	13988	1045	37	0	1350	0	SEC14L2	22	30818390	Frame_Shift_Ins	INS	-	TCGA-AT-A5NU-01A-11D-A28G-10		30818390	20486176	65	7471											
EIF3L	51386	hgsc.bcm.edu	37	22	38273745	38273745	+	Missense_Mutation	SNP	G	G	A			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr22:38273745G>A	ENST00000412331.2	+	11	1724	c.1142G>A	c.(1141-1143)cGt>cAt	p.R381H	EIF3L_ENST00000406934.1_Missense_Mutation_p.R283H|EIF3L_ENST00000381683.6_Missense_Mutation_p.R333H	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TACCCCATGCGTATTGATGAG	0.507																																																0													109	91	97					22																	38273745		2203	4300	6503	SO:0001583	missense	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1142G>A	chr22.hg19:g.38273745G>A	ENSP00000416892:p.Arg381His			Missense_Mutation	SNP	ENST00000412331.2	hg19	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	g	17.83	3.484330	0.63962	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.47177	0.85;0.85;0.85	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.64170	1.965	0.80722	D	1	B;B;B;B	0.33755	0.424;0.205;0.241;0.391	B;B;B;B	0.34779	0.185;0.086;0.067;0.189	T	0.54912	-0.8222	10	0.52906	T	0.07	-11.4514	18.5732	0.91144	0.0:0.0:1.0:0.0	.	333;283;381;424	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	H	381;424;333;348;283	ENSP00000416892:R381H;ENSP00000371099:R333H;ENSP00000384634:R283H	ENSP00000262832:R348H	R	+	2	0	EIF3L	36603691	1.000000	0.71417	0.983000	0.44433	0.982000	0.71751	9.824000	0.99380	2.436000	0.82500	0.436000	0.28706	CGT		0.507	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		A	38273745	G	A	38273745	3	1	122	1	0	0	0	0	1	0	0	0	5024	1145	40	1	1184	1	EIF3L	22	38273745	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	7455355	38273745	13030821	66	7472											
ENTHD1	150350	hgsc.bcm.edu	37	22	40283710	40283710	+	Missense_Mutation	SNP	A	A	C			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr22:40283710A>C	ENST00000325157.6	-	2	293	c.43T>G	c.(43-45)Tca>Gca	p.S15A		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	15	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TCAGCATCTGAGTAATTTTTC	0.388																																																0													79	77	78					22																	40283710		2203	4300	6503	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.43T>G	chr22.hg19:g.40283710A>C	ENSP00000317431:p.Ser15Ala		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	hg19	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238534	0.79800	.	.	ENSG00000176177	ENST00000325157	T	0.51574	0.7	5.72	5.72	0.89469	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.56097	D	0.000026	T	0.74336	0.3703	M	0.89968	3.075	0.46336	D	0.998993	P	0.45348	0.856	D	0.64687	0.928	T	0.79598	-0.1737	10	0.87932	D	0	-12.6774	15.6751	0.77311	1.0:0.0:0.0:0.0	.	15	Q8IYW4	ENTD1_HUMAN	A	15	ENSP00000317431:S15A	ENSP00000317431:S15A	S	-	1	0	ENTHD1	38613656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.127000	0.64727	2.183000	0.69458	0.533000	0.62120	TCA		0.388	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		C	40283710	A	C	40283710	3	2	122	1	0	0	0	0	1	0	0	0	5139	304	11	5	1804	5	ENTHD1	22	40283710	Missense_Mutation	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10	2009965	40283710	11020856	67	7473											
CENPM	79019	hgsc.bcm.edu	37	22	42339699	42339699	+	Missense_Mutation	SNP	C	C	T	rs138744954		TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr22:42339699C>T	ENST00000215980.5	-	5	404	c.317G>A	c.(316-318)cGg>cAg	p.R106Q	CENPM_ENST00000404067.1_Intron|CENPM_ENST00000402420.1_Silent_p.A100A|CENPM_ENST00000402338.1_Missense_Mutation_p.R72Q|CENPM_ENST00000407253.3_Intron	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	106					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						GTGGCTCTCCCGCCCAGCTGG	0.572																																																0								C	,GLN/ARG	0,4406		0,0,2203	78	59	65		,317	-4.7	1	22	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	CENPM	NM_001002876.1,NM_024053.3	,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,benign	,106/181	42339699	2,13004	2203	4300	6503	SO:0001583	missense	79019			BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"chromosome 22 open reading frame 18"	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.317G>A	chr22.hg19:g.42339699C>T	ENSP00000215980:p.Arg106Gln		A7LM22|B1AHQ9|Q6I9W3	Missense_Mutation	SNP	ENST00000215980.5	hg19	CCDS14025.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106900	0.37145	0.0	2.33E-4	ENSG00000100162	ENST00000215980;ENST00000402338	.	.	.	5.25	-4.72	0.03269	.	0.976709	0.08428	N	0.947321	T	0.26448	0.0646	N	0.16656	0.425	0.29767	N	0.83507	B	0.15930	0.015	B	0.10450	0.005	T	0.41070	-0.9529	9	0.11182	T	0.66	-34.5962	11.9913	0.53176	0.0:0.4651:0.0:0.5349	.	106	Q9NSP4	CENPM_HUMAN	Q	106;72	.	ENSP00000215980:R106Q	R	-	2	0	CENPM	40669645	0.002000	0.14202	0.956000	0.39512	0.972000	0.66771	-0.717000	0.04986	-0.651000	0.05415	-0.218000	0.12543	CGG		0.572	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053		T	42339699	C	T	42339699	3	4	122	1	0	0	0	0	1	0	0	0	3239	652	23	1	273	1	CENPM	22	42339699	Missense_Mutation	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	2055989	42339699	8964867	68	7474											
MCAT	27349	hgsc.bcm.edu	37	22	43539309	43539309	+	Missense_Mutation	SNP	C	C	A	rs200527554	byFrequency	TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chr22:43539309C>A	ENST00000290429.6	-	1	91	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	MCAT_ENST00000327555.5_Missense_Mutation_p.A16S|MCAT_ENST00000464244.1_5'Flank	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	16					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CGGTAGCTGGCGCCCAAGCCC	0.761													C|||	44	0.00878594	0.0008	0.0014	5008	,	,		12066	0.001		0.0	False		,,,				2504	0.0419															0								C	SER/ALA,SER/ALA	2,2788		0,2,1393	2	3	3		46,46	0.4	0	22		3	12,6196		0,12,3092	no	missense,missense	MCAT	NM_014507.3,NM_173467.4	99,99	0,14,4485	AA,AC,CC		0.1933,0.0717,0.1556	benign,benign	16/181,16/391	43539309	14,8984	1395	3104	4499	SO:0001583	missense	27349			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.46G>T	chr22.hg19:g.43539309C>A	ENSP00000290429:p.Ala16Ser		B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	hg19	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005171	0.35415	7.17E-4	0.001933	ENSG00000100294	ENST00000327555;ENST00000290429	T	0.44482	0.92	5.13	0.374	0.16183	.	1.107710	0.06871	N	0.800769	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.006	T	0.24977	-1.0145	10	0.09590	T	0.72	-2.6285	4.8423	0.13496	0.1466:0.5099:0.2666:0.0768	.	16;16	B0QY72;Q8IVS2	.;FABD_HUMAN	S	16	ENSP00000290429:A16S	ENSP00000290429:A16S	A	-	1	0	MCAT	41869253	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.231000	0.09069	-0.090000	0.12462	-0.463000	0.05309	GCC		0.761	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		A	43539309	C	A	43539309	3	1	122	1	0	0	0	0	1	0	0	0	9374	768	27	4	1142	4	MCAT	22	43539309	Missense_Mutation	SNP	C	TCGA-AT-A5NU-01A-11D-A28G-10	1199610	43539309	7765257	69	7475											
HDAC6	10013	hgsc.bcm.edu	37	X	48676773	48676773	+	Missense_Mutation	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chrX:48676773A>G	ENST00000334136.5	+	22	2319	c.2141A>G	c.(2140-2142)gAc>gGc	p.D714G	HDAC6_ENST00000376619.2_Missense_Mutation_p.D714G|HDAC6_ENST00000444343.2_Missense_Mutation_p.D728G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	714	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGTGATGCTGACTACCTAGCT	0.637																																					Pancreas(112;205 1675 2305 8976 15959)											0													53	42	45					X																	48676773		2203	4300	6503	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2141A>G	chrX.hg19:g.48676773A>G	ENSP00000334061:p.Asp714Gly		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	hg19	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.672707	0.88445	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.71222	-0.55;-0.55;-0.55	5.35	5.35	0.76521	Histone deacetylase domain (2);	0.237016	0.41294	D	0.000917	T	0.76786	0.4036	L	0.43923	1.385	0.80722	D	1	P;D;P	0.57571	0.931;0.98;0.931	P;D;P	0.63703	0.848;0.917;0.848	T	0.79090	-0.1946	10	0.87932	D	0	-11.0343	12.2017	0.54331	1.0:0.0:0.0:0.0	.	704;362;714	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	G	728;714;714;714	ENSP00000398566:D728G;ENSP00000334061:D714G;ENSP00000365804:D714G	ENSP00000334061:D714G	D	+	2	0	HDAC6	48561717	1.000000	0.71417	0.932000	0.37286	0.989000	0.77384	8.533000	0.90617	1.785000	0.52413	0.486000	0.48141	GAC		0.637	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		G	48676773	A	G	48676773	3	3	122	1	0	0	0	0	1	0	0	0	7013	275	10	3	2223	3	HDAC6	23	48676773	Missense_Mutation	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10		48676773	106593787	70	7476											
SERPINA7	6906	hgsc.bcm.edu	37	X	105280775	105280775	+	Missense_Mutation	SNP	A	A	G			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chrX:105280775A>G	ENST00000327674.4	-	1	610	c.275T>C	c.(274-276)aTt>aCt	p.I92T	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.I92T			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	92					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGTCTCCACAATCTCAGTTTG	0.483																																																0													82	75	78					X																	105280775		2203	4300	6503	SO:0001583	missense	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.275T>C	chrX.hg19:g.105280775A>G	ENSP00000329374:p.Ile92Thr		D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	hg19	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.760784	0.31137	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.85773	-2.03;-2.03	4.91	4.91	0.64330	Serpin domain (3);	0.073669	0.56097	D	0.000032	D	0.94298	0.8168	H	0.96175	3.78	0.40968	D	0.984676	D	0.89917	1.0	D	0.87578	0.998	D	0.95648	0.8704	10	0.87932	D	0	.	11.5511	0.50721	1.0:0.0:0.0:0.0	.	92	P05543	THBG_HUMAN	T	92	ENSP00000329374:I92T;ENSP00000361644:I92T	ENSP00000329374:I92T	I	-	2	0	SERPINA7	105167431	1.000000	0.71417	0.055000	0.19348	0.009000	0.06853	8.589000	0.90817	1.930000	0.55929	0.486000	0.48141	ATT		0.483	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		G	105280775	A	G	105280775	3	3	122	1	0	0	0	0	1	0	0	0	14100	101	4	3	988	3	SERPINA7	23	105280775	Missense_Mutation	SNP	A	TCGA-AT-A5NU-01A-11D-A28G-10	56604002	105280775	49989785	71	7477											
ODZ1	10178	hgsc.bcm.edu	37	X	123637524	123637524	+	Missense_Mutation	SNP	G	G	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chrX:123637524G>T	ENST00000371130.3	-	19	3394	c.3331C>A	c.(3331-3333)Cct>Act	p.P1111T	TENM1_ENST00000422452.2_Missense_Mutation_p.P1111T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1111					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATAAAGTCAGGGCACGTTTCA	0.363																																																0													165	160	162					X																	123637524		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3331C>A	chrX.hg19:g.123637524G>T	ENSP00000360171:p.Pro1111Thr		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	hg19	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302140	0.40694	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85773	-2.03;-2.0	5.7	5.7	0.88788	.	0.060698	0.64402	D	0.000002	T	0.77955	0.4208	L	0.38953	1.18	0.51233	D	0.999913	B;B;B	0.17852	0.024;0.011;0.007	B;B;B	0.12156	0.007;0.005;0.004	T	0.71768	-0.4493	10	0.16420	T	0.52	.	13.7872	0.63117	0.0:0.0:0.8469:0.1531	.	1110;1111;1111	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	1111	ENSP00000360171:P1111T;ENSP00000403954:P1111T	ENSP00000360171:P1111T	P	-	1	0	ODZ1	123465205	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.633000	0.74286	2.402000	0.81655	0.600000	0.82982	CCT		0.363	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123637524	G	T	123637524	3	4	122	1	0	0	0	0	1	0	0	0	10836	1232	43	4	4923	4	ODZ1	23	123637524	Missense_Mutation	SNP	G	TCGA-AT-A5NU-01A-11D-A28G-10	18356749	123637524	31633036	72	7478											
RENBP	5973	hgsc.bcm.edu	37	X	153200984	153200985	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AT-A5NU-01A-11D-A28G-10	TCGA-AT-A5NU-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	573e6af3-cd69-43ac-8dbf-b2f3331d520d	f93a95f6-7503-431f-9f12-d22c659ce92b	g.chrX:153200984_153200985insT	ENST00000393700.3	-	10	1202_1203	c.1122_1123insA	c.(1120-1125)cgagagfs	p.E375fs	NAA10_ENST00000464845.1_5'Flank|RENBP_ENST00000369997.3_Frame_Shift_Ins_p.E361fs|NAA10_ENST00000370009.1_5'Flank|NAA10_ENST00000393712.3_5'Flank|RENBP_ENST00000412763.1_3'UTR|NAA10_ENST00000393710.3_5'Flank|NAA10_ENST00000370015.4_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	375					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCTTGCCCTCTCGGCTCAGGT	0.644																																																0																																										SO:0001589	frameshift_variant	5973				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.1123dupA	chrX.hg19:g.153200985_153200985dupT	ENSP00000377303:p.Glu375fs		B4DNZ3|Q96BI6	Frame_Shift_Ins	INS	ENST00000393700.3	hg19	CCDS14738.2																																																																																				0.644	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		T	153200985	-	T	153200984	7	5	122	1	0	1	1	0	0	0	0	0	13231	922	32	0	168	0	RENBP	23	153200984	Frame_Shift_Ins	INS	-	TCGA-AT-A5NU-01A-11D-A28G-10	29563460	153200984	2069576	73	7479											
VHL	7428	hgsc.bcm.edu	37	3	10183857	10183857	+	Missense_Mutation	SNP	T	T	A	rs398123482		TCGA-B0-4690-01A-01W-1359-10	TCGA-B0-4690-11A-01W-1359-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	3d37e399-27f4-4e5c-ad28-263eeafa5f07	d61e871d-a7b0-4dd2-9e71-19b3bb6033e9	g.chr3:10183857T>A	ENST00000256474.2	+	1	1166	c.326T>A	c.(325-327)aTc>aAc	p.I109N	VHL_ENST00000345392.2_Missense_Mutation_p.I109N|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	109	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I109N(2)|p.I109fs*56(1)|p.I109S(1)|p.I109_R113del(1)|p.G106fs*49(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGCCGCCGCATCCACAGCTAC	0.682		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	6	Substitution - Missense(3)|Deletion - Frameshift(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(6)											11	12	12					3																	10183857		1741	3679	5420	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.326T>A	3.37:g.10183857T>A	ENSP00000256474:p.Ile109Asn		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737679	0.89573	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99828	-6.99;-6.99	5.17	5.17	0.71159	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.177513	0.64402	D	0.000014	D	0.99560	0.9842	L	0.43923	1.385	0.28690	N	0.904664	D;D	0.58620	0.983;0.982	P;D	0.63877	0.837;0.919	D	0.97894	1.0299	10	0.72032	D	0.01	-1.1893	13.0484	0.58939	0.0:0.0:0.0:1.0	.	109;109	P40337-2;P40337	.;VHL_HUMAN	N	109	ENSP00000256474:I109N;ENSP00000344757:I109N	ENSP00000256474:I109N	I	+	2	0	VHL	10158857	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.955000	0.63638	1.965000	0.57142	0.393000	0.25936	ATC		0.682	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183857	T	A	10183857	3	1	123	1	0	0	0	0	1	0	0	0	17167	1435	50	5	328	5	VHL	3	10183857	Missense_Mutation	SNP	T	TCGA-B0-4690-01A-01W-1359-10		10183857	187838573	1	7480											
GNL2	29889	hgsc.bcm.edu	37	1	38056444	38056444	+	Missense_Mutation	SNP	T	T	G	rs112315084		TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr1:38056444T>G	ENST00000373062.3	-	4	345	c.247A>C	c.(247-249)Aac>Cac	p.N83H		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	83					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				ACACGTGTGTTTCCTGTTTTA	0.353																																																0													133	123	126					1																	38056444		2203	4300	6503	SO:0001583	missense	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.247A>C	1.37:g.38056444T>G	ENSP00000362153:p.Asn83His		Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	CCDS421.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885112	0.91814	.	.	ENSG00000134697	ENST00000373062	T	0.50813	0.73	5.76	5.76	0.90799	Nucleolar GTPase, NGP1-type (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86083	0.1545	10	0.87932	D	0	-31.2344	16.0659	0.80870	0.0:0.0:0.0:1.0	.	83;83	Q5T0F3;Q13823	.;NOG2_HUMAN	H	83	ENSP00000362153:N83H	ENSP00000362153:N83H	N	-	1	0	GNL2	37829031	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.952000	0.87827	2.209000	0.71365	0.533000	0.62120	AAC		0.353	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		G	38056444	T	G	38056444	3	3	124	1	0	0	0	0	1	0	0	0	6538	1841	64	5	2000	5	GNL2	1	38056444	Missense_Mutation	SNP	T	TCGA-B0-4691-01A-01D-1361-10		38056444	211194177	1	7481											
ZNF642	339559	hgsc.bcm.edu	37	1	40945114	40945114	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr1:40945114G>T	ENST00000372706.1	+	2	1087	c.81G>T	c.(79-81)gaG>gaT	p.E27D	ZFP69_ENST00000372705.3_Missense_Mutation_p.E27D			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	27	SCAN box.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGGCCGTGGAGGGGGCGCCCC	0.552																																																0													46	48	47					1																	40945114		2203	4300	6503	SO:0001583	missense	0			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.81G>T	1.37:g.40945114G>T	ENSP00000361791:p.Glu27Asp		Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.877280	0.33162	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.08546	3.08;3.08	4.44	0.385	0.16249	.	0.234704	0.21947	N	0.066796	T	0.11153	0.0272	M	0.86573	2.825	0.21290	N	0.999732	P	0.34522	0.455	B	0.26416	0.069	T	0.12192	-1.0557	10	0.66056	D	0.02	.	7.1207	0.25442	0.3992:0.0:0.6008:0.0	.	27	Q49AA0	ZN642_HUMAN	D	27	ENSP00000361791:E27D;ENSP00000361790:E27D	ENSP00000361790:E27D	E	+	3	2	ZNF642	40717701	0.996000	0.38824	0.301000	0.25044	0.021000	0.10359	1.378000	0.34328	-0.023000	0.13963	-0.150000	0.13652	GAG		0.552	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		T	40945114	G	T	40945114	3	4	124	1	0	0	0	0	1	0	0	0	18063	991	35	4	83	4	ZNF642	1	40945114	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	2888670	40945114	208305507	2	7482											
KANK4	163782	hgsc.bcm.edu	37	1	62740019	62740019	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr1:62740019A>G	ENST00000371153.4	-	3	1135	c.757T>C	c.(757-759)Tca>Cca	p.S253P	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	253	Pro-rich.					cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTCTGGAATGAGAAAGGAGGG	0.552																																																0													42	38	39					1																	62740019		2203	4300	6503	SO:0001583	missense	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.757T>C	1.37:g.62740019A>G	ENSP00000360195:p.Ser253Pro		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606388	0.28623	.	.	ENSG00000132854	ENST00000371153	T	0.47528	0.84	5.27	-1.33	0.09172	.	1.611770	0.04220	N	0.333438	T	0.37156	0.0993	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14090	-1.0485	10	0.34782	T	0.22	-0.4801	1.3882	0.02245	0.2893:0.2788:0.2964:0.1355	.	253	Q5T7N3	KANK4_HUMAN	P	253	ENSP00000360195:S253P	ENSP00000360195:S253P	S	-	1	0	KANK4	62512607	.	.	0.000000	0.03702	0.042000	0.13812	.	.	-0.251000	0.09542	0.379000	0.24179	TCA		0.552	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		G	62740019	A	G	62740019	3	3	124	1	0	0	0	0	1	0	0	0	7981	304	11	3	2262	3	KANK4	1	62740019	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	21794905	62740019	186510602	3	7483											
BCL10	8915	hgsc.bcm.edu	37	1	85736490	85736490	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr1:85736490C>G	ENST00000370580.1	-	2	894	c.157G>C	c.(157-159)Gaa>Caa	p.E53Q		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	53	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GAAATTTCTTCAGTGTCTTCT	0.368			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)		Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	0													95	100	99					1																	85736490		2202	4300	6502	SO:0001583	missense	8915			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"CARD-like apoptotic protein", "CARD-containing apoptotic signaling protein", "CARD containing molecule enhancing NF-kB", "caspase-recruiting domain-containing protein", "CARD-containing proapoptotic protein"	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.157G>C	1.37:g.85736490C>G	ENSP00000359612:p.Glu53Gln		Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	37	CCDS704.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020236	0.93462	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	T	0.33438	1.41	5.99	5.99	0.97316	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.47824	-0.9087	10	0.87932	D	0	-22.6443	20.4777	0.99188	0.0:1.0:0.0:0.0	.	53	O95999	BCL10_HUMAN	Q	53	ENSP00000359612:E53Q	ENSP00000271015:E53Q	E	-	1	0	BCL10	85509078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.187000	0.72039	2.840000	0.97914	0.655000	0.94253	GAA		0.368	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		G	85736490	C	G	85736490	3	3	124	1	0	0	0	0	1	0	0	0	1362	835	29	4	552	4	BCL10	1	85736490	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	22996471	85736490	163514131	4	7484											
NTNG1	22854	hgsc.bcm.edu	37	1	107867021	107867021	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr1:107867021A>T	ENST00000370068.1	+	3	1210	c.364A>T	c.(364-366)Act>Tct	p.T122S	NTNG1_ENST00000370074.4_Missense_Mutation_p.T122S|NTNG1_ENST00000370061.3_Missense_Mutation_p.T122S|NTNG1_ENST00000370070.2_Missense_Mutation_p.T122S|NTNG1_ENST00000542803.1_Missense_Mutation_p.T122S|NTNG1_ENST00000370073.2_Missense_Mutation_p.T122S|NTNG1_ENST00000370066.1_Missense_Mutation_p.T122S|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370071.2_Missense_Mutation_p.T122S|NTNG1_ENST00000370065.1_Missense_Mutation_p.T122S|NTNG1_ENST00000370072.3_Missense_Mutation_p.T122S|NTNG1_ENST00000370067.1_Missense_Mutation_p.T122S			Q9Y2I2	NTNG1_HUMAN	netrin G1	122	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GCAGTCTGCCACTTGGAAGGA	0.468																																																0													119	122	121					1																	107867021		2203	4300	6503	SO:0001583	missense	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.364A>T	1.37:g.107867021A>T	ENSP00000359085:p.Thr122Ser		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.825878	0.32237	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	5.83	5.83	0.93111	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000006	T	0.47021	0.1423	N	0.13043	0.29	0.50313	D	0.999862	B;B;B;B;B	0.27932	0.025;0.043;0.027;0.006;0.194	B;B;B;B;B	0.35770	0.049;0.027;0.047;0.007;0.21	T	0.51608	-0.8684	10	0.12430	T	0.62	.	16.2015	0.82084	1.0:0.0:0.0:0.0	.	122;122;122;122;122	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	S	122	ENSP00000359090:T122S;ENSP00000359088:T122S;ENSP00000440561:T122S;ENSP00000359078:T122S;ENSP00000359089:T122S;ENSP00000359087:T122S;ENSP00000359091:T122S;ENSP00000359085:T122S;ENSP00000359084:T122S;ENSP00000359083:T122S;ENSP00000359082:T122S	ENSP00000294649:T122S	T	+	1	0	NTNG1	107668544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.519000	0.67074	2.230000	0.72887	0.533000	0.62120	ACT		0.468	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		T	107867021	A	T	107867021	3	4	124	1	0	0	0	0	1	0	0	0	10706	159	6	5	370	5	NTNG1	1	107867021	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	22130531	107867021	141383600	5	7485											
NOTCH2	4853	hgsc.bcm.edu;ucsc.edu	37	1	120539837	120539837	+	Silent	SNP	T	T	C	rs1616532	byFrequency	TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr1:120539837T>C	ENST00000256646.2	-	4	753	c.534A>G	c.(532-534)aaA>aaG	p.K178K	NOTCH2_ENST00000602566.1_Silent_p.K139K	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	178	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTCTCACATTTCTGCCCTG	0.557			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													118	92	101					1																	120539837		2202	4300	6502	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.534A>G	1.37:g.120539837T>C			Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.557	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		C	120539837	T	C	120539837	2	2	124	1	0	0	0	0	0	0	0	1	10550	1490	52	3		3	NOTCH2	1	120539837	Silent	SNP	T	TCGA-B0-4691-01A-01D-1361-10	12672816	120539837	128710784	6	7486											
ITGA10	8515	hgsc.bcm.edu	37	1	145532550	145532550	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr1:145532550T>C	ENST00000369304.3	+	9	1178	c.1003T>C	c.(1003-1005)Ttc>Ctc	p.F335L	ITGA10_ENST00000539363.1_Missense_Mutation_p.F192L|ITGA10_ENST00000538811.1_Missense_Mutation_p.F204L|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	335	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGATTCTTTTTCAATGTCAC	0.483																																																0													147	141	143					1																	145532550		2203	4300	6503	SO:0001583	missense	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1003T>C	1.37:g.145532550T>C	ENSP00000358310:p.Phe335Leu		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.855926	0.91355	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	D;D;D	0.86297	-2.1;-2.1;-2.1	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.125587	0.52532	D	0.000066	D	0.90796	0.7110	M	0.69185	2.1	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.997;0.999;1.0	D;D;D;D	0.97110	0.999;0.966;0.991;1.0	D	0.92141	0.5720	10	0.87932	D	0	.	13.4487	0.61158	0.0:0.0:0.0:1.0	.	301;204;192;335	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	L	335;301;192;204	ENSP00000358310:F335L;ENSP00000439894:F192L;ENSP00000440011:F204L	ENSP00000358310:F335L	F	+	1	0	ITGA10	144243907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.541000	0.82084	2.143000	0.66587	0.459000	0.35465	TTC		0.483	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		C	145532550	T	C	145532550	3	2	124	1	0	0	0	0	1	0	0	0	7875	1841	64	3	1037	3	ITGA10	1	145532550	Missense_Mutation	SNP	T	TCGA-B0-4691-01A-01D-1361-10	24992713	145532550	103718071	7	7487											
TDRD10	126668	hgsc.bcm.edu;ucsc.edu	37	1	154517301	154517301	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr1:154517301G>T	ENST00000368480.3	+	11	913	c.828G>T	c.(826-828)tgG>tgT	p.W276C	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Missense_Mutation_p.W276C			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	276	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGACACCTGGGCTGTGGTCA	0.552																																																0													208	180	189					1																	154517301		2203	4300	6503	SO:0001583	missense	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.828G>T	1.37:g.154517301G>T	ENSP00000357465:p.Trp276Cys		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176920	0.57692	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.11063	2.81;2.81	4.54	4.54	0.55810	Maternal tudor protein (1);	0.529762	0.15335	N	0.267838	T	0.12305	0.0299	L	0.29908	0.895	0.26657	N	0.971991	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.05852	-1.0860	10	0.72032	D	0.01	-7.721	12.6499	0.56755	0.0:0.0:1.0:0.0	.	276;276	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	C	276	ENSP00000357467:W276C;ENSP00000357465:W276C	ENSP00000357465:W276C	W	+	3	0	TDRD10	152783925	0.996000	0.38824	0.062000	0.19696	0.986000	0.74619	1.870000	0.39529	2.351000	0.79841	0.650000	0.86243	TGG		0.552	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		T	154517301	G	T	154517301	3	4	124	1	0	0	0	0	1	0	0	0	15736	1241	43	4	866	4	TDRD10	1	154517301	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	8984751	154517301	94733320	8	7488											
IL24	11009	hgsc.bcm.edu;ucsc.edu	37	1	207072689	207072689	+	Silent	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr1:207072689G>A	ENST00000294984.2	+	3	343	c.69G>A	c.(67-69)gcG>gcA	p.A23A	IL24_ENST00000367093.3_Silent_p.A24A|IL24_ENST00000391929.3_Silent_p.A24A|IL24_ENST00000491169.1_Intron	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	23					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CTTTGCTGGCGACAGCCTCTC	0.577																																																0													52	52	52					1																	207072689		2203	4300	6503	SO:0001819	synonymous_variant	11009			U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"Interleukins and interleukin receptors"	11346	protein-coding gene	gene with protein product	"melanoma differentiation association protein 7", "suppression of tumorigenicity 16 (melanoma differentiation)", "IL-4-induced secreted protein"	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.69G>A	1.37:g.207072689G>A			Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Silent	SNP	ENST00000294984.2	37	CCDS1471.1																																																																																				0.577	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		A	207072689	G	A	207072689	2	1	124	1	0	0	0	0	0	0	0	1	7679	1045	37	1		1	IL24	1	207072689	Silent	SNP	G	TCGA-B0-4691-01A-01D-1361-10	52555388	207072689	42177932	9	7489											
EPHX1	2052	hgsc.bcm.edu	37	1	226027044	226027044	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr1:226027044C>A	ENST00000366837.4	+	5	915	c.719C>A	c.(718-720)cCc>cAc	p.P240H	EPHX1_ENST00000272167.5_Missense_Mutation_p.P240H|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	240					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CAGCTGGTGCCCAGGTGAGGT	0.557																																																0													61	69	66					1																	226027044		2203	4300	6503	SO:0001583	missense	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.719C>A	1.37:g.226027044C>A	ENSP00000355802:p.Pro240His		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645761	0.87958	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.11821	2.74;2.74	4.69	4.69	0.59074	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65861	-0.6065	10	0.87932	D	0	-26.8861	17.9678	0.89105	0.0:1.0:0.0:0.0	.	240	P07099	HYEP_HUMAN	H	240	ENSP00000272167:P240H;ENSP00000355802:P240H	ENSP00000272167:P240H	P	+	2	0	EPHX1	224093667	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.501000	0.81600	2.311000	0.77944	0.591000	0.81541	CCC		0.557	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		A	226027044	C	A	226027044	3	1	124	1	0	0	0	0	1	0	0	0	5181	623	22	4	733	4	EPHX1	1	226027044	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	18954355	226027044	23223577	10	7490											
GPR113	165082	hgsc.bcm.edu	37	2	26540932	26540932	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:26540932C>T	ENST00000311519.1	-	2	237	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	GPR113_ENST00000421160.2_Intron|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000459892.1_Intron|GPR113_ENST00000333478.6_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	80					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGTCTGGCCCTTGGGCCAT	0.587																																																0													55	57	57					2																	26540932		692	1591	2283	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.238G>A	2.37:g.26540932C>T	ENSP00000307831:p.Gly80Ser		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.763429	0.00651	.	.	ENSG00000173567	ENST00000311519	T	0.34667	1.35	0.645	-0.32	0.12721	.	.	.	.	.	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.26467	-1.0102	8	0.22109	T	0.4	.	.	.	.	.	80	Q8IZF5	GP113_HUMAN	S	80	ENSP00000307831:G80S	ENSP00000307831:G80S	G	-	1	0	GPR113	26394436	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-2.166000	0.01273	-0.199000	0.10317	-0.657000	0.03884	GGC		0.587	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		T	26540932	C	T	26540932	3	4	124	1	0	0	0	0	1	0	0	0	6632	623	22	2	3138	2	GPR113	2	26540932	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10		26540932	216658441	11	7491											
WDR43	23160	hgsc.bcm.edu	37	2	29164351	29164351	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:29164351G>T	ENST00000407426.3	+	15	1701	c.1645G>T	c.(1645-1647)Ggg>Tgg	p.G549W		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	549						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACCCCAGCTGGGGACACTCTA	0.403																																																0													75	72	73					2																	29164351		1883	4102	5985	SO:0001583	missense	23160			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1645G>T	2.37:g.29164351G>T	ENSP00000384302:p.Gly549Trp		Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	CCDS46251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.986489|3.986489	0.74589|0.74589	.|.	.|.	ENSG00000163811|ENSG00000163811	ENST00000407426|ENST00000446643	T|.	0.66815|.	-0.23|.	5.51|5.51	4.6|4.6	0.57074|0.57074	.|.	0.049965|.	0.85682|.	D|.	0.000000|.	T|T	0.75874|0.75874	0.3909|0.3909	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.81914|.	0.995|.	T|T	0.77970|0.77970	-0.2387|-0.2387	10|5	0.87932|.	D|.	0|.	-10.5131|-10.5131	12.6872|12.6872	0.56954|0.56954	0.0845:0.0:0.9155:0.0|0.0845:0.0:0.9155:0.0	.|.	549|.	Q15061|.	WDR43_HUMAN|.	W|C	549|100	ENSP00000384302:G549W|.	ENSP00000384302:G549W|.	G|W	+|+	1|3	0|0	WDR43|WDR43	29017855|29017855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.729000|5.729000	0.68538|0.68538	1.368000|1.368000	0.46115|0.46115	0.555000|0.555000	0.69702|0.69702	GGG|TGG		0.403	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		T	29164351	G	T	29164351	3	4	124	1	0	0	0	0	1	0	0	0	17300	1232	43	4	1703	4	WDR43	2	29164351	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	2623419	29164351	214035022	12	7492											
XPO1	7514	hgsc.bcm.edu	37	2	61717806	61717806	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:61717806A>G	ENST00000401558.2	-	17	2720	c.1993T>C	c.(1993-1995)Tgg>Cgg	p.W665R	XPO1_ENST00000404992.2_Missense_Mutation_p.W665R|XPO1_ENST00000406957.1_Missense_Mutation_p.W665R	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	665	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ATACTATCCCACACTTGATTA	0.353			Mis		CLL																																	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0													209	176	187					2																	61717806		2202	4300	6502	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1993T>C	2.37:g.61717806A>G	ENSP00000384863:p.Trp665Arg		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.730792	0.89390	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.68181	-0.31;-0.31;-0.31	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89953	0.4081	10	0.87932	D	0	-5.6081	16.8061	0.85666	1.0:0.0:0.0:0.0	.	312;665	B3KWD0;O14980	.;XPO1_HUMAN	R	665	ENSP00000384863:W665R;ENSP00000385942:W665R;ENSP00000385559:W665R	ENSP00000384863:W665R	W	-	1	0	XPO1	61571310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.312000	0.96287	2.367000	0.80283	0.528000	0.53228	TGG		0.353	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		G	61717806	A	G	61717806	3	3	124	1	0	0	0	0	1	0	0	0	17450	159	6	3	1258	3	XPO1	2	61717806	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	32553455	61717806	181481567	13	7493											
DUSP11	8446	hgsc.bcm.edu	37	2	74001019	74001019	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:74001019A>G	ENST00000272444.3	-	4	523	c.482T>C	c.(481-483)aTt>aCt	p.I161T	DUSP11_ENST00000377706.4_Missense_Mutation_p.I114T|DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000443070.1_Missense_Mutation_p.I161T	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	114	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)	p.I114N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						AACTGTAAAAATTTTTAAGTA	0.294																																																1	Substitution - Missense(1)	large_intestine(1)											69	78	75					2																	74001019		2203	4298	6501	SO:0001583	missense	8446			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.482T>C	2.37:g.74001019A>G	ENSP00000272444:p.Ile161Thr		B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095738	0.76870	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706;ENST00000452812	T;D	0.87887	1.17;-2.31	4.95	4.95	0.65309	Dual specificity phosphatase, catalytic domain (1);	0.159438	0.56097	D	0.000034	D	0.93307	0.7867	M	0.86178	2.8	0.52501	D	0.999954	D;P	0.76494	0.999;0.946	D;P	0.74023	0.982;0.892	D	0.93987	0.7263	10	0.66056	D	0.02	-7.0312	12.9075	0.58160	1.0:0.0:0.0:0.0	.	161;114	C9JYA6;O75319	.;DUS11_HUMAN	T	161;161;114;112	ENSP00000413444:I161T;ENSP00000366935:I114T	ENSP00000272444:I161T	I	-	2	0	DUSP11	73854527	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	6.773000	0.75006	2.216000	0.71823	0.533000	0.62120	ATT		0.294	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			G	74001019	A	G	74001019	3	3	124	1	0	0	0	0	1	0	0	0	4813	101	4	3	675	3	DUSP11	2	74001019	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	12283213	74001019	169198354	14	7494											
ZC3H6	376940	hgsc.bcm.edu	37	2	113089834	113089834	+	Silent	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:113089834A>G	ENST00000409871.1	+	12	3740	c.3339A>G	c.(3337-3339)ccA>ccG	p.P1113P	ZC3H6_ENST00000343936.4_Silent_p.P1113P|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1113							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAGCTGACCCACAGGCGGACG	0.517																																																0													41	44	43					2																	113089834		1950	4144	6094	SO:0001819	synonymous_variant	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3339A>G	2.37:g.113089834A>G			A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	CCDS46393.1																																																																																				0.517	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		G	113089834	A	G	113089834	2	3	124	1	0	0	0	0	0	0	0	1	17576	146	6	3		3	ZC3H6	2	113089834	Silent	SNP	A	TCGA-B0-4691-01A-01D-1361-10	39088815	113089834	130109539	15	7495											
PSD4	23550	hgsc.bcm.edu	37	2	113942954	113942954	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:113942954C>T	ENST00000245796.6	+	4	1381	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	PSD4_ENST00000441564.3_Missense_Mutation_p.P396S	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	396					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCTCTCAGCCCTGAGGGCTG	0.582																																																0													93	99	97					2																	113942954		2203	4300	6503	SO:0001583	missense	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1186C>T	2.37:g.113942954C>T	ENSP00000245796:p.Pro396Ser		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	9.786	1.176739	0.21704	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10668	2.94;2.85	3.63	0.584	0.17422	.	1.688070	0.03125	N	0.164288	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B;B	0.32829	0.386;0.267	B;B	0.31191	0.125;0.059	T	0.33033	-0.9884	10	0.16896	T	0.51	.	5.9837	0.19421	0.3894:0.421:0.1896:0.0	.	396;396	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	S	396	ENSP00000245796:P396S;ENSP00000413997:P396S	ENSP00000245796:P396S	P	+	1	0	PSD4	113659425	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	-0.222000	0.09190	0.099000	0.17552	0.563000	0.77884	CCT		0.582	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		T	113942954	C	T	113942954	3	4	124	1	0	0	0	0	1	0	0	0	12654	623	22	2	1196	2	PSD4	2	113942954	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	853120	113942954	129256419	16	7496											
SP3	6670	hgsc.bcm.edu	37	2	174819867	174819867	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:174819867G>A	ENST00000310015.6	-	4	1903	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	SP3_ENST00000483084.1_5'Flank|SP3_ENST00000418194.2_Missense_Mutation_p.S390F|SP3_ENST00000455789.2_Missense_Mutation_p.S405F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	458	Transactivation domain (Gln-rich).				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TACCTGTCCAGAAGGGGTCAC	0.433																																																0													75	72	73					2																	174819867		2203	4300	6503	SO:0001583	missense	6670			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1373C>T	2.37:g.174819867G>A	ENSP00000310301:p.Ser458Phe		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626020	0.66901	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.07688	3.17;3.17;3.17	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.98;0.98;0.999	T	0.00247	-1.1881	10	0.87932	D	0	.	20.0915	0.97822	0.0:0.0:1.0:0.0	.	455;458;405	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	F	458;405;390	ENSP00000310301:S458F;ENSP00000388903:S405F;ENSP00000406140:S390F	ENSP00000310301:S458F	S	-	2	0	SP3	174528113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.194000	0.94962	2.736000	0.93811	0.650000	0.86243	TCT		0.433	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		A	174819867	G	A	174819867	3	1	124	1	0	0	0	0	1	0	0	0	14971	942	33	2	988	2	SP3	2	174819867	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	60876913	174819867	68379506	17	7497											
NAB1	4664	hgsc.bcm.edu	37	2	191524675	191524675	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:191524675G>T	ENST00000337386.5	+	4	1234	c.773G>T	c.(772-774)aGa>aTa	p.R258I	NAB1_ENST00000484774.1_3'UTR|NAB1_ENST00000357215.5_Missense_Mutation_p.R258I|NAB1_ENST00000409641.1_Missense_Mutation_p.R258I|NAB1_ENST00000545490.1_Missense_Mutation_p.R28I|NAB1_ENST00000409581.1_Missense_Mutation_p.R258I	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	258	NCD2.				endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			ATATATGGCAGATTTGACTCA	0.428																																																0													79	73	75					2																	191524675		2203	4300	6503	SO:0001583	missense	4664				CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"EGR1 binding protein 1"	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.773G>T	2.37:g.191524675G>T	ENSP00000336894:p.Arg258Ile		O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	CCDS2307.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.008759|5.008759	0.93346|0.93346	.|.	.|.	ENSG00000138386|ENSG00000138386	ENST00000434473|ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641;ENST00000545490	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|NAB co-repressor, domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80592|0.80592	0.4652|0.4652	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.98;0.998;0.998	.|D;D;D	.|0.91635	.|0.988;0.999;0.999	T|T	0.81942|0.81942	-0.0702|-0.0702	5|9	.|0.87932	.|D	.|0	-20.8905|-20.8905	18.5908|18.5908	0.91212|0.91212	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|258;258;258	.|F8W8J7;B8ZZS2;Q13506	.|.;.;NAB1_HUMAN	H|I	40|258;258;258;258;28	.|.	.|ENSP00000336894:R258I	Q|R	+|+	3|2	2|0	NAB1|NAB1	191232920|191232920	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.994000|0.994000	0.84299|0.84299	9.477000|9.477000	0.97925|0.97925	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.428	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		T	191524675	G	T	191524675	3	4	124	1	0	0	0	0	1	0	0	0	10133	942	33	4	775	4	NAB1	2	191524675	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	16704808	191524675	51674698	18	7498											
MARS2	92935	hgsc.bcm.edu	37	2	198571043	198571043	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:198571043C>A	ENST00000282276.6	+	1	957	c.914C>A	c.(913-915)tCt>tAt	p.S305Y	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	305					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCGGCCACCTCTCATATCATA	0.517																																																0													80	84	82					2																	198571043		2203	4300	6503	SO:0001583	missense	92935			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.914C>A	2.37:g.198571043C>A	ENSP00000282276:p.Ser305Tyr		A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	C	0.129	-1.115889	0.01799	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.44881	0.91	5.26	1.05	0.20165	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.379769	0.28821	N	0.014035	T	0.10078	0.0247	N	0.00317	-1.655	0.25526	N	0.987327	B	0.06786	0.001	B	0.04013	0.001	T	0.25502	-1.0130	10	0.45353	T	0.12	-1.4985	4.3351	0.11081	0.1477:0.5028:0.2608:0.0886	.	305	Q96GW9	SYMM_HUMAN	Y	305;232	ENSP00000282276:S305Y	ENSP00000282276:S305Y	S	+	2	0	MARS2	198279288	0.994000	0.37717	0.856000	0.33681	0.997000	0.91878	1.868000	0.39509	0.598000	0.29829	0.655000	0.94253	TCT		0.517	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		A	198571043	C	A	198571043	3	1	124	1	0	0	0	0	1	0	0	0	9319	913	32	4	916	4	MARS2	2	198571043	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	7046368	198571043	44628330	19	7499											
ALS2	57679	hgsc.bcm.edu	37	2	202593234	202593234	+	Splice_Site	SNP	C	C	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:202593234C>G	ENST00000264276.6	-	15	3214		c.e15+1		ALS2_ENST00000457679.2_Splice_Site	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)						behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ATCCAGCCTACCTGGGCATGG	0.443																																																0													90	89	89					2																	202593234		1883	4106	5989	SO:0001630	splice_region_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2841+1G>C	2.37:g.202593234C>G			Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Splice_Site	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701252	0.88924	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALS2	202301479	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.753000	0.94483	0.557000	0.71058	.		0.443	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	Intron	G	202593234	C	G	202593234	5	3	124	1	0	0	0	0	0	0	1	0	550	521	18	4	2211	4	ALS2	2	202593234	Splice_Site	SNP	C	TCGA-B0-4691-01A-01D-1361-10	4022191	202593234	40606139	20	7500											
ZDBF2	57683	hgsc.bcm.edu	37	2	207170632	207170632	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:207170632G>T	ENST00000374423.3	+	5	1766	c.1380G>T	c.(1378-1380)ttG>ttT	p.L460F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	460							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCTTCACTTGGTTACCAACC	0.328																																																0													39	37	37					2																	207170632		1839	4084	5923	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1380G>T	2.37:g.207170632G>T	ENSP00000363545:p.Leu460Phe		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	7.606	0.673779	0.14841	.	.	ENSG00000204186	ENST00000374423	T	0.56776	0.44	4.24	0.277	0.15668	.	1.713730	0.04188	N	0.327781	T	0.42223	0.1193	L	0.40543	1.245	0.09310	N	1	B	0.15930	0.015	B	0.12837	0.008	T	0.26360	-1.0105	10	0.45353	T	0.12	.	3.718	0.08445	0.3201:0.1865:0.4934:0.0	.	460	Q9HCK1	ZDBF2_HUMAN	F	460	ENSP00000363545:L460F	ENSP00000363545:L460F	L	+	3	2	ZDBF2	206878877	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.812000	0.27211	0.138000	0.18790	-0.157000	0.13467	TTG		0.328	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		T	207170632	G	T	207170632	3	4	124	1	0	0	0	0	1	0	0	0	17604	1339	47	4	1390	4	ZDBF2	2	207170632	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	4577398	207170632	36028741	21	7501											
ANO7	50636	hgsc.bcm.edu	37	2	242154264	242154264	+	Silent	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr2:242154264G>A	ENST00000274979.8	+	18	2038	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	ANO7_ENST00000402430.3_Silent_p.L644L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	645					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGGAGCTCCTGGTCATCATGG	0.647																																																0													131	95	107					2																	242154264		2203	4300	6503	SO:0001819	synonymous_variant	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1935G>A	2.37:g.242154264G>A			Q6IWH6	Silent	SNP	ENST00000274979.8	37	CCDS33423.1																																																																																				0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		A	242154264	G	A	242154264	2	1	124	1	0	0	0	0	0	0	0	1	702	1335	47	2		2	ANO7	2	242154264	Silent	SNP	G	TCGA-B0-4691-01A-01D-1361-10	34983632	242154264	1045109	22	7502											
TMEM111	55831	hgsc.bcm.edu	37	3	10011439	10011439	+	Silent	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr3:10011439G>A	ENST00000245046.2	-	7	1079	c.621C>T	c.(619-621)gcC>gcT	p.A207A	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	207						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GCATGGCCATGGCTGCTCCCG	0.498																																																0													124	109	114					3																	10011439		2203	4300	6503	SO:0001819	synonymous_variant	0			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"transmembrane protein 111"	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.621C>T	3.37:g.10011439G>A			B2R4Z9|Q53GH8|Q6ZMC2	Silent	SNP	ENST00000245046.2	37	CCDS2594.1																																																																																				0.498	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250532.1	NM_018447		A	10011439	G	A	10011439	2	1	124	1	0	0	0	0	0	0	0	1	16033	1335	47	2		2	TMEM111	3	10011439	Silent	SNP	G	TCGA-B0-4691-01A-01D-1361-10		10011439	188010991	23	7503											
HDAC11	79885	hgsc.bcm.edu;ucsc.edu	37	3	13522780	13522780	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr3:13522780G>C	ENST00000295757.3	+	2	220	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	HDAC11_ENST00000437379.2_5'UTR|HDAC11_ENST00000446613.2_5'UTR|HDAC11_ENST00000404548.1_Missense_Mutation_p.E13Q|HDAC11-AS1_ENST00000424112.2_RNA|HDAC11_ENST00000522202.1_5'UTR|HDAC11_ENST00000433119.1_5'UTR|HDAC11_ENST00000402271.1_Missense_Mutation_p.E13Q|HDAC11_ENST00000405025.1_5'UTR|HDAC11_ENST00000404040.1_Missense_Mutation_p.E13Q|HDAC11_ENST00000402259.1_Missense_Mutation_p.E13Q	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	13					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GCATGTGCCAGAGACACGCTG	0.577																																																0													113	92	99					3																	13522780		2203	4300	6503	SO:0001583	missense	79885			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.37G>C	3.37:g.13522780G>C	ENSP00000295757:p.Glu13Gln		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	CCDS2615.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457736	0.26161	.	.	ENSG00000163517	ENST00000295757;ENST00000402259;ENST00000402271;ENST00000404548;ENST00000404040;ENST00000458642;ENST00000418189;ENST00000434848	T;T;T;T	0.72505	-0.64;0.9;-0.66;-0.08	5.28	3.33	0.38152	Histone deacetylase domain (1);	0.614285	0.16205	N	0.224730	T	0.47525	0.1450	N	0.12182	0.205	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.30031	-0.9992	10	0.87932	D	0	-5.8697	3.9433	0.09338	0.0898:0.1586:0.5878:0.1638	.	13	Q96DB2	HDA11_HUMAN	Q	13;13;13;13;13;13;32;32	ENSP00000295757:E13Q;ENSP00000384706:E13Q;ENSP00000384123:E13Q;ENSP00000385475:E13Q	ENSP00000295757:E13Q	E	+	1	0	HDAC11	13497780	0.000000	0.05858	0.893000	0.35052	0.994000	0.84299	0.028000	0.13644	2.479000	0.83701	0.655000	0.94253	GAG		0.577	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		C	13522780	G	C	13522780	3	2	124	1	0	0	0	0	1	0	0	0	7008	943	33	4	43	4	HDAC11	3	13522780	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	3511341	13522780	184499650	24	7504											
RNF123	63891	hgsc.bcm.edu	37	3	49737755	49737755	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr3:49737755G>T	ENST00000327697.6	+	13	1224	c.1080G>T	c.(1078-1080)caG>caT	p.Q360H	RNF123_ENST00000432042.1_Missense_Mutation_p.Q214H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	360					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGGTGCACCAGGTCCTGGACC	0.607																																																0													105	80	88					3																	49737755		2203	4300	6503	SO:0001583	missense	63891			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1080G>T	3.37:g.49737755G>T	ENSP00000328287:p.Gln360His		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034803	0.35893	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.76448	-0.72;-1.02	5.58	0.684	0.18003	.	0.428062	0.26304	N	0.025155	T	0.52008	0.1708	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.24693	-1.0153	10	0.34782	T	0.22	-16.1031	5.3663	0.16115	0.2799:0.2538:0.4663:0.0	.	214;360	C9J266;Q5XPI4	.;RN123_HUMAN	H	360;360;214	ENSP00000328287:Q360H;ENSP00000392443:Q214H	ENSP00000328287:Q360H	Q	+	3	2	RNF123	49712759	1.000000	0.71417	0.986000	0.45419	0.954000	0.61252	1.417000	0.34770	0.319000	0.23209	-0.136000	0.14681	CAG		0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		T	49737755	G	T	49737755	3	4	124	1	0	0	0	0	1	0	0	0	13439	991	35	4	1126	4	RNF123	3	49737755	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	36214975	49737755	148284675	25	7505											
BAP1	8314	hgsc.bcm.edu;ucsc.edu	37	3	52441470	52441470	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr3:52441470C>A	ENST00000460680.1	-	6	853	c.382G>T	c.(382-384)Gga>Tga	p.G128*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.G128*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(2)|p.G128R(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ATCGCATATCCTTTGCTCTAC	0.542			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	3	Unknown(2)|Substitution - Missense(1)	eye(3)											92	95	94					3																	52441470		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.382G>T	3.37:g.52441470C>A	ENSP00000417132:p.Gly128*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	40	8.173802	0.98688	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.844	19.9064	0.97008	0.0:1.0:0.0:0.0	.	.	.	.	X	128;128;49	.	ENSP00000296288:G128X	G	-	1	0	BAP1	52416510	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.453000	0.80700	2.716000	0.92895	0.655000	0.94253	GGA		0.542	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52441470	C	A	52441470	4	1	124	1	0	0	0	0	0	1	0	0	1311	690	24	4	1855	4	BAP1	3	52441470	Nonsense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	2703715	52441470	145580960	26	7506											
CHDH	55349	hgsc.bcm.edu;ucsc.edu	37	3	53853013	53853013	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr3:53853013C>T	ENST00000315251.6	-	8	1755	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	440					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TGGGGATTGGCACTTCTCAGT	0.547																																																0													209	174	186					3																	53853013		2203	4300	6503	SO:0001583	missense	55349			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1318G>A	3.37:g.53853013C>T	ENSP00000319851:p.Ala440Thr		Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646725	0.47258	.	.	ENSG00000016391	ENST00000315251	T	0.46451	0.87	5.78	-1.56	0.08532	Glucose-methanol-choline oxidoreductase, C-terminal (1);	0.883796	0.09984	N	0.730676	T	0.31544	0.0800	L	0.42744	1.35	0.25210	N	0.989984	B	0.10296	0.003	B	0.19666	0.026	T	0.30446	-0.9978	10	0.31617	T	0.26	-8.7483	7.5823	0.27972	0.102:0.4238:0.0:0.4742	.	440	Q8NE62	CHDH_HUMAN	T	440	ENSP00000319851:A440T	ENSP00000319851:A440T	A	-	1	0	CHDH	53828053	0.000000	0.05858	0.556000	0.28293	0.974000	0.67602	-0.379000	0.07437	-0.352000	0.08237	0.563000	0.77884	GCC		0.547	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		T	53853013	C	T	53853013	3	4	124	1	0	0	0	0	1	0	0	0	3335	710	25	2	474	2	CHDH	3	53853013	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	1411543	53853013	144169417	27	7507											
FLNB	2317	hgsc.bcm.edu	37	3	58088038	58088038	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr3:58088038G>T	ENST00000295956.4	+	9	1619	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V	FLNB_ENST00000493452.1_Missense_Mutation_p.G316V|FLNB_ENST00000490882.1_Missense_Mutation_p.G485V|FLNB_ENST00000357272.4_Missense_Mutation_p.G485V|FLNB_ENST00000348383.5_Missense_Mutation_p.G485V|FLNB_ENST00000358537.3_Missense_Mutation_p.G485V|FLNB_ENST00000419752.2_Missense_Mutation_p.G316V|FLNB_ENST00000429972.2_Missense_Mutation_p.G485V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	485					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCAGGAAGTGGGGAGCTCGGT	0.527																																																0													150	148	148					3																	58088038		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1454G>T	3.37:g.58088038G>T	ENSP00000295956:p.Gly485Val		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180606	0.94846	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	5.43	5.43	0.79202	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97873	0.9301	H	0.96142	3.775	0.80722	D	1	P;D;D;P;P;P	0.55800	0.847;0.972;0.973;0.932;0.951;0.951	P;D;D;P;P;D	0.65874	0.786;0.939;0.933;0.856;0.864;0.933	D	0.98693	1.0697	10	0.87932	D	0	.	19.5914	0.95514	0.0:0.0:1.0:0.0	.	485;485;316;316;485;485	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	485;485;485;485;485;485;316;316	ENSP00000295956:G485V;ENSP00000420213:G485V;ENSP00000351339:G485V;ENSP00000415599:G485V;ENSP00000232447:G485V;ENSP00000349819:G485V;ENSP00000418510:G316V;ENSP00000414532:G316V	ENSP00000295956:G485V	G	+	2	0	FLNB	58063078	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	9.813000	0.99286	2.720000	0.93068	0.591000	0.81541	GGG		0.527	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		T	58088038	G	T	58088038	3	4	124	1	0	0	0	0	1	0	0	0	5936	1232	43	4	1488	4	FLNB	3	58088038	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	4235025	58088038	139934392	28	7508											
RG9MTD1	54931	hgsc.bcm.edu	37	3	101284157	101284157	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr3:101284157C>A	ENST00000309922.6	+	2	686	c.532C>A	c.(532-534)Cta>Ata	p.L178I		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	178					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GAAAAACTTTCTATTTTTACG	0.408																																																0													82	78	79					3																	101284157		1829	4082	5911	SO:0001583	missense	0			AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 1"	615423	"RNA (guanine-9-) methyltransferase domain containing 1"	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.532C>A	3.37:g.101284157C>A	ENSP00000312356:p.Leu178Ile		Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288436	0.10513	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.23348	2.5;1.91	5.72	1.13	0.20643	.	0.645826	0.14968	N	0.287972	T	0.11153	0.0272	N	0.14661	0.345	0.09310	N	1	B	0.23442	0.085	B	0.17979	0.02	T	0.29336	-1.0015	10	0.19590	T	0.45	-24.9	4.2544	0.10710	0.4104:0.3593:0.0:0.2302	.	178	Q7L0Y3	MRRP1_HUMAN	I	178	ENSP00000312356:L178I;ENSP00000419389:L178I	ENSP00000312356:L178I	L	+	1	2	RG9MTD1	102766847	0.749000	0.28305	0.332000	0.25469	0.456000	0.32438	0.515000	0.22801	0.293000	0.22520	0.655000	0.94253	CTA		0.408	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		A	101284157	C	A	101284157	3	1	124	1	0	0	0	0	1	0	0	0	13277	912	32	4	534	4	RG9MTD1	3	101284157	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	43196119	101284157	96738273	29	7509											
ARHGAP31	57514	hgsc.bcm.edu	37	3	119134491	119134491	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr3:119134491A>G	ENST00000264245.4	+	12	4247	c.3715A>G	c.(3715-3717)Acc>Gcc	p.T1239A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1239					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACCCAGCTCAACCAGTGGGAC	0.552																																					Pancreas(7;176 297 5394 51128 51241)											0													45	53	50					3																	119134491		1927	4121	6048	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3715A>G	3.37:g.119134491A>G	ENSP00000264245:p.Thr1239Ala		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	5.934	0.356284	0.11239	.	.	ENSG00000031081	ENST00000264245	T	0.06142	3.34	5.96	-1.18	0.09617	.	0.623213	0.15942	N	0.237126	T	0.03651	0.0104	N	0.20986	0.625	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.43032	-0.9416	10	0.23891	T	0.37	.	6.4791	0.22053	0.4918:0.1287:0.3795:0.0	.	1239	Q2M1Z3	RHG31_HUMAN	A	1239	ENSP00000264245:T1239A	ENSP00000264245:T1239A	T	+	1	0	ARHGAP31	120617181	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	0.761000	0.26489	-0.110000	0.12022	0.460000	0.39030	ACC		0.552	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			G	119134491	A	G	119134491	3	3	124	1	0	0	0	0	1	0	0	0	880	43	2	3	3761	3	ARHGAP31	3	119134491	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	17850334	119134491	78887939	30	7510											
CLSTN2	64084	hgsc.bcm.edu	37	3	140281788	140281788	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr3:140281788T>C	ENST00000458420.3	+	14	2538	c.2348T>C	c.(2347-2349)tTc>tCc	p.F783S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	783					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGCAATGAGTTCAACTTGGAG	0.552										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)											0													59	57	57					3																	140281788		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2348T>C	3.37:g.140281788T>C	ENSP00000402460:p.Phe783Ser		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396433	0.83011	.	.	ENSG00000158258	ENST00000458420	T	0.31247	1.5	4.95	4.95	0.65309	.	0.093191	0.85682	D	0.000000	T	0.46756	0.1409	M	0.79926	2.475	0.51482	D	0.999922	D	0.60575	0.988	P	0.51657	0.676	T	0.52335	-0.8589	9	.	.	.	-27.8624	12.8671	0.57946	0.0:0.0:0.0:1.0	.	783	Q9H4D0	CSTN2_HUMAN	S	783	ENSP00000402460:F783S	.	F	+	2	0	CLSTN2	141764478	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.997000	0.88414	1.981000	0.57761	0.533000	0.62120	TTC		0.552	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		C	140281788	T	C	140281788	3	2	124	1	0	0	0	0	1	0	0	0	3564	1783	62	3	2402	3	CLSTN2	3	140281788	Missense_Mutation	SNP	T	TCGA-B0-4691-01A-01D-1361-10	21147297	140281788	57740642	31	7511											
TBC1D1	23216	hgsc.bcm.edu	37	4	38016542	38016542	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr4:38016542A>G	ENST00000261439.4	+	3	1185	c.830A>G	c.(829-831)cAc>cGc	p.H277R	TBC1D1_ENST00000508802.1_Missense_Mutation_p.H277R	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	277	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ATTAGCGGACACAATATTGTG	0.532																																																0													47	50	49					4																	38016542		2203	4300	6503	SO:0001583	missense	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.830A>G	4.37:g.38016542A>G	ENSP00000261439:p.His277Arg		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	A	1.621	-0.521517	0.04171	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.18174	3.6;3.99;2.23	5.65	3.11	0.35812	Phosphotyrosine interaction domain (1);	0.101745	0.43416	N	0.000575	T	0.07143	0.0181	N	0.08118	0	0.80722	D	1	B;B;B	0.26809	0.001;0.16;0.001	B;B;B	0.23150	0.005;0.044;0.005	T	0.30736	-0.9968	10	0.12103	T	0.63	-22.4534	8.897	0.35470	0.8062:0.1274:0.0664:0.0	.	277;277;277	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	R	277;277;148	ENSP00000423651:H277R;ENSP00000261439:H277R;ENSP00000396877:H148R	ENSP00000261439:H277R	H	+	2	0	TBC1D1	37692937	0.214000	0.23563	0.151000	0.22473	0.019000	0.09904	0.921000	0.28718	0.461000	0.27071	-0.461000	0.05368	CAC		0.532	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		G	38016542	A	G	38016542	3	3	124	1	0	0	0	0	1	0	0	0	15602	159	6	3	836	3	TBC1D1	4	38016542	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10		38016542	153137734	32	7512											
EXOC1	55763	hgsc.bcm.edu	37	4	56738088	56738088	+	Silent	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr4:56738088A>G	ENST00000381295.2	+	8	1386	c.1038A>G	c.(1036-1038)agA>agG	p.R346R	EXOC1_ENST00000346134.7_Silent_p.R346R|EXOC1_ENST00000349598.6_Silent_p.R346R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	346					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTGCCCGGAGACTGGCCAGTC	0.398																																																0													92	90	91					4																	56738088		2203	4300	6503	SO:0001819	synonymous_variant	55763			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1038A>G	4.37:g.56738088A>G			Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	CCDS3502.1																																																																																				0.398	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		G	56738088	A	G	56738088	2	3	124	1	0	0	0	0	0	0	0	1	5303	272	10	3		3	EXOC1	4	56738088	Silent	SNP	A	TCGA-B0-4691-01A-01D-1361-10	18721546	56738088	134416188	33	7513											
LPHN3	23284	hgsc.bcm.edu;ucsc.edu	37	4	62935947	62935947	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr4:62935947T>A	ENST00000514591.1	+	25	4060	c.3731T>A	c.(3730-3732)aTa>aAa	p.I1244K	LPHN3_ENST00000507625.1_Missense_Mutation_p.I1303K|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000508946.1_Missense_Mutation_p.I1287K|LPHN3_ENST00000512091.2_3'UTR|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000506746.1_Missense_Mutation_p.I1346K|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000545650.1_Missense_Mutation_p.I1244K|RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000514996.1_Missense_Mutation_p.I1278K|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000506720.1_Missense_Mutation_p.I1355K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1222					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTGCAAATCATAGACCGTGGC	0.458																																																0													88	73	78					4																	62935947		692	1591	2283	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3731T>A	4.37:g.62935947T>A	ENSP00000422533:p.Ile1244Lys		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.32|12.32	1.901322|1.901322	0.33535|0.33535	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T	.|0.71103	.|-0.52;-0.52;-0.54;-0.51;-0.52;-0.52;-0.51	5.12|5.12	5.12|5.12	0.69794|0.69794	.|GPCR, family 2, latrophilin, C-terminal (1);	.|0.128379	.|0.51477	.|D	.|0.000085	T|T	0.61286|0.61286	0.2335|0.2335	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|P;P	.|0.42203	.|0.773;0.773	.|B;B	.|0.41332	.|0.354;0.354	T|T	0.60994|0.60994	-0.7152|-0.7152	5|10	.|0.06099	.|T	.|0.92	.|.	14.9211|14.9211	0.70838|0.70838	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1244;1222	.|E9PE04;Q9HAR2	.|.;LPHN3_HUMAN	Q|K	692|1244;1244;1222;1303;1287;1355;1346;1278	.|ENSP00000422533:I1244K;ENSP00000439831:I1244K;ENSP00000421372:I1303K;ENSP00000421627:I1287K;ENSP00000420931:I1355K;ENSP00000425884:I1346K;ENSP00000424258:I1278K	.|ENSP00000295349:I1222K	H|I	+|+	3|2	2|0	LPHN3|LPHN3	62618542|62618542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.881000|5.881000	0.69706|0.69706	1.928000|1.928000	0.55862|0.55862	0.377000|0.377000	0.23210|0.23210	CAT|ATA		0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			A	62935947	T	A	62935947	3	1	124	1	0	0	0	0	1	0	0	0	8919	1406	49	5	3821	5	LPHN3	4	62935947	Missense_Mutation	SNP	T	TCGA-B0-4691-01A-01D-1361-10	6197859	62935947	128218329	34	7514											
SYNPO2	171024	hgsc.bcm.edu;ucsc.edu	37	4	119978853	119978853	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr4:119978853C>T	ENST00000307142.4	+	5	3746	c.3550C>T	c.(3550-3552)Cct>Tct	p.P1184S	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTCCTATATTCCTCAAACCCA	0.463																																																0													88	86	87					4																	119978853		2203	4300	6503	SO:0001583	missense	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3550C>T	4.37:g.119978853C>T	ENSP00000306015:p.Pro1184Ser		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	CCDS34054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.835840|1.835840	0.32421|0.32421	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142|ENST00000504178	T|.	0.09723|.	2.95|.	5.76|5.76	4.03|4.03	0.46877|0.46877	.|.	0.168798|.	0.28665|.	N|.	0.014544|.	T|T	0.46425|0.46425	0.1392|0.1392	L|L	0.29908|0.29908	0.895|0.895	0.34391|0.34391	D|D	0.694223|0.694223	B;B|.	0.23377|.	0.051;0.084|.	B;B|.	0.23419|.	0.02;0.046|.	T|T	0.54754|0.54754	-0.8246|-0.8246	9|5	.|.	.|.	.|.	-7.2272|-7.2272	12.0203|12.0203	0.53340|0.53340	0.0:0.8609:0.0:0.1391|0.0:0.8609:0.0:0.1391	.|.	1184;1184|.	B9EG60;Q9UMS6-2|.	.;.|.	S|F	1184|1077	ENSP00000306015:P1184S|.	.|.	P|S	+|+	1|2	0|0	SYNPO2|SYNPO2	120198301|120198301	0.587000|0.587000	0.26791|0.26791	0.104000|0.104000	0.21259|0.21259	0.038000|0.038000	0.13279|0.13279	1.943000|1.943000	0.40253|0.40253	0.793000|0.793000	0.33875|0.33875	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.463	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			T	119978853	C	T	119978853	3	4	124	1	0	0	0	0	1	0	0	0	15462	855	30	2	3680	2	SYNPO2	4	119978853	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	57042906	119978853	71175423	35	7515											
CCDC110	256309	hgsc.bcm.edu	37	4	186380243	186380243	+	Missense_Mutation	SNP	A	A	C	rs59319722	byFrequency	TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr4:186380243A>C	ENST00000307588.3	-	6	1573	c.1498T>G	c.(1498-1500)Tac>Gac	p.Y500D	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.Y463D|CCDC110_ENST00000510617.1_Missense_Mutation_p.Y500D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	500			Y -> D (in dbSNP:rs59319722).			nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTTTGCTGTATTCTTCTGTT	0.274													C|||	1927	0.384784	0.2784	0.3631	5008	,	,		16317	0.2857		0.5378	False		,,,				2504	0.4888															0								C	ASP/TYR,ASP/TYR	1438,2954		230,978,988	27	28	28		1387,1498	4.2	0.1	4	dbSNP_129	28	4818,3740		1364,2090,825	yes	missense,missense	CCDC110	NM_001145411.1,NM_152775.3	160,160	1594,3068,1813	CC,CA,AA		43.7018,32.7413,48.3089	benign,benign	463/797,500/834	186380243	6256,6694	2196	4279	6475	SO:0001583	missense	256309			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1498T>G	4.37:g.186380243A>C	ENSP00000306776:p.Tyr500Asp		Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	856	0.39194139194139194	148	0.3008130081300813	147	0.40607734806629836	161	0.28146853146853146	400	0.5277044854881267	C	0	-2.653368	0.00109	0.327413	0.562982	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.04406	3.63;3.65;3.65	5.96	4.25	0.50352	.	0.427611	0.22036	N	0.065525	T	0.00012	0.0000	N	0.00368	-1.59	0.58432	P	1.0000000000287557E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39057	-0.9632	9	0.02654	T	1	-2.8884	7.4078	0.27001	0.1356:0.7252:0.0:0.1391	rs59319722;rs62345630	500;463;500	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	D	463;500;500	ENSP00000377172:Y463D;ENSP00000306776:Y500D;ENSP00000427246:Y500D	ENSP00000306776:Y500D	Y	-	1	0	CCDC110	186617237	0.987000	0.35691	0.075000	0.20258	0.106000	0.19336	2.024000	0.41049	0.446000	0.26666	-0.121000	0.15023	TAC		0.274	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		C	186380243	A	C	186380243	3	2	124	1	0	0	0	0	1	0	0	0	2749	449	16	5	1011	5	CCDC110	4	186380243	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	66401390	186380243	4774033	36	7516											
GPR98	84059	hgsc.bcm.edu;ucsc.edu	37	5	90144583	90144583	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr5:90144583G>A	ENST00000405460.2	+	79	17245	c.17149G>A	c.(17149-17151)Gag>Aag	p.E5717K	GPR98_ENST00000425867.2_Missense_Mutation_p.E1378K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5717					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAAGTGACTGAGAATTTTGC	0.388																																																0													105	98	100					5																	90144583		1834	4088	5922	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17149G>A	5.37:g.90144583G>A	ENSP00000384582:p.Glu5717Lys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	36	5.958734	0.97145	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.36157	1.27;1.33	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.49437	-0.8940	9	.	.	.	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1378;5717;1378	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	K	5717;5717;1378	ENSP00000384582:E5717K;ENSP00000392618:E1378K	.	E	+	1	0	GPR98	90180339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.085000	0.94083	2.824000	0.97209	0.655000	0.94253	GAG		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90144583	G	A	90144583	3	1	124	1	0	0	0	0	1	0	0	0	6723	1291	45	2	17463	2	GPR98	5	90144583	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10		90144583	90770677	37	7517											
RAD50	10111	hgsc.bcm.edu;ucsc.edu	37	5	131973813	131973813	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr5:131973813T>G	ENST00000265335.6	+	23	3903	c.3516T>G	c.(3514-3516)aaT>aaG	p.N1172K	AC004041.2_ENST00000457489.1_RNA|AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000458509.1_RNA|RAD50_ENST00000378823.3_Missense_Mutation_p.N1033K|AC004041.2_ENST00000435042.1_RNA			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1172					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGATGAAAATGTATCAGCTT	0.418								Homologous recombination																																								0													115	109	111					5																	131973813		2203	4300	6503	SO:0001583	missense	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3516T>G	5.37:g.131973813T>G	ENSP00000265335:p.Asn1172Lys		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.34|16.34	3.095768|3.095768	0.56075|0.56075	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000455677|ENST00000378823;ENST00000265335	.|T;T	.|0.03358	.|3.96;3.96	5.95|5.95	-2.42|-2.42	0.06542|0.06542	.|.	.|0.048252	.|0.85682	.|D	.|0.000000	T|T	0.01800|0.01800	0.0057|0.0057	N|N	0.08118|0.08118	0|0	0.39608|0.39608	D|D	0.96984|0.96984	.|B	.|0.16166	.|0.016	.|B	.|0.17098	.|0.017	T|T	0.49753|0.49753	-0.8906|-0.8906	5|10	.|0.05525	.|T	.|0.97	-26.1253|-26.1253	15.4981|15.4981	0.75673|0.75673	0.0:0.6379:0.0:0.3621|0.0:0.6379:0.0:0.3621	.|.	.|1172	.|Q92878	.|RAD50_HUMAN	G|K	51|1033;1172	.|ENSP00000368100:N1033K;ENSP00000265335:N1172K	.|ENSP00000265335:N1172K	C|N	+|+	1|3	0|2	RAD50|RAD50	132001712|132001712	0.326000|0.326000	0.24669|0.24669	0.986000|0.986000	0.45419|0.45419	0.991000|0.991000	0.79684|0.79684	-0.391000|-0.391000	0.07323|0.07323	-0.335000|-0.335000	0.08451|0.08451	-0.256000|-0.256000	0.11100|0.11100	TGT|AAT		0.418	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		G	131973813	T	G	131973813	3	3	124	1	0	0	0	0	1	0	0	0	12990	1461	51	5	3606	5	RAD50	5	131973813	Missense_Mutation	SNP	T	TCGA-B0-4691-01A-01D-1361-10	41829230	131973813	48941447	38	7518											
FLT4	2324	hgsc.bcm.edu;ucsc.edu	37	5	180057623	180057623	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr5:180057623C>T	ENST00000261937.6	-	3	410	c.332G>A	c.(331-333)tGc>tAc	p.C111Y	FLT4_ENST00000393347.3_Missense_Mutation_p.C111Y|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.C111Y	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	111	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGTAGTAGCAGACGTAGCT	0.627																																					Colon(97;1075 1466 27033 27547 35871)											0													195	149	165					5																	180057623		2203	4298	6501	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.332G>A	5.37:g.180057623C>T	ENSP00000261937:p.Cys111Tyr		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.572229	0.65765	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.55413	0.52;0.52;0.52	4.9	4.9	0.64082	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76543	0.4002	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.995;0.982;0.996;0.996	T	0.81221	-0.1031	9	0.87932	D	0	.	18.5214	0.90954	0.0:1.0:0.0:0.0	.	111;111;111;111;111	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	Y	111	ENSP00000261937:C111Y;ENSP00000377016:C111Y;ENSP00000426057:C111Y	ENSP00000261937:C111Y	C	-	2	0	FLT4	179990229	1.000000	0.71417	0.994000	0.49952	0.537000	0.34900	7.067000	0.76741	2.465000	0.83290	0.456000	0.33151	TGC		0.627	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			T	180057623	C	T	180057623	3	4	124	1	0	0	0	0	1	0	0	0	5946	710	25	2	3879	2	FLT4	5	180057623	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	48083810	180057623	857637	39	7519											
HSPA1L	3305	hgsc.bcm.edu	37	6	31778695	31778695	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr6:31778695A>G	ENST00000375654.4	-	2	1244	c.1055T>C	c.(1054-1056)cTt>cCt	p.L352P	HSPA1L_ENST00000417199.3_Missense_Mutation_p.L352P	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	352					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTAGTCCTGAAGCAGCCGCTG	0.532																																																0													56	55	55					6																	31778695		2203	4300	6503	SO:0001583	missense	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1055T>C	6.37:g.31778695A>G	ENSP00000364805:p.Leu352Pro		A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.00|14.00	2.404082|2.404082	0.42613|0.42613	.|.	.|.	ENSG00000204390|ENSG00000204390	ENST00000424494|ENST00000375654;ENST00000417199;ENST00000375653	.|T;T	.|0.01185	.|5.21;5.21	5.4|5.4	4.22|4.22	0.49857|0.49857	.|.	.|0.000000	.|0.29376	.|N	.|0.012334	T|T	0.07999|0.07999	0.0200|0.0200	H|H	0.98849|0.98849	4.35|4.35	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.01476|0.01476	-1.1345|-1.1345	6|10	0.15952|0.87932	T|D	0.53|0	-10.0156|-10.0156	10.7426|10.7426	0.46162|0.46162	0.84:0.1599:0.0:0.0|0.84:0.1599:0.0:0.0	.|.	.|352	.|P34931	.|HS71L_HUMAN	L|P	224|352;352;297	.|ENSP00000364805:L352P;ENSP00000387691:L352P	ENSP00000405825:F224L|ENSP00000364804:L297P	F|L	-|-	1|2	0|0	HSPA1L|HSPA1L	31886674|31886674	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.633000|0.633000	0.38033|0.38033	9.139000|9.139000	0.94554|0.94554	1.047000|1.047000	0.40274|0.40274	-0.449000|-0.449000	0.05564|0.05564	TTC|CTT		0.532	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			G	31778695	A	G	31778695	3	3	124	1	0	0	0	0	1	0	0	0	7412	72	3	3	874	3	HSPA1L	6	31778695	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10		31778695	139336372	40	7520											
LRRC1	55227	hgsc.bcm.edu	37	6	53787551	53787551	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr6:53787551A>G	ENST00000370888.1	+	14	1812	c.1535A>G	c.(1534-1536)gAg>gGg	p.E512G	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	512						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AACAAAAACGAGGTCAATCAT	0.473																																																0													240	245	243					6																	53787551		1977	4166	6143	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1535A>G	6.37:g.53787551A>G	ENSP00000359925:p.Glu512Gly		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757841	0.69648	.	.	ENSG00000137269	ENST00000370888	T	0.56444	0.46	5.91	5.91	0.95273	.	0.120820	0.53938	D	0.000042	T	0.31263	0.0791	L	0.40543	1.245	0.80722	D	1	P	0.36282	0.546	B	0.31812	0.136	T	0.31052	-0.9957	10	0.52906	T	0.07	.	15.5324	0.75974	1.0:0.0:0.0:0.0	.	512	Q9BTT6	LRRC1_HUMAN	G	512	ENSP00000359925:E512G	ENSP00000359925:E512G	E	+	2	0	LRRC1	53895510	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	8.747000	0.91610	2.266000	0.75297	0.533000	0.62120	GAG		0.473	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		G	53787551	A	G	53787551	3	3	124	1	0	0	0	0	1	0	0	0	8968	304	11	3	1589	3	LRRC1	6	53787551	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	22008856	53787551	117327516	41	7521											
ZNF292	23036	hgsc.bcm.edu	37	6	87970404	87970404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr6:87970404G>T	ENST00000369577.3	+	8	7100	c.7057G>T	c.(7057-7059)Gaa>Taa	p.E2353*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.E2348*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2353						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCAGATTGAAGAAAATAAGCC	0.363																																																0													53	54	54					6																	87970404		1838	4081	5919	SO:0001587	stop_gained	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7057G>T	6.37:g.87970404G>T	ENSP00000358590:p.Glu2353*		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	44	11.033928	0.99506	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.62	5.62	0.85841	.	0.241555	0.42548	D	0.000700	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	15.1666	0.72833	0.0:0.1406:0.8594:0.0	.	.	.	.	X	2353;2348	.	ENSP00000342847:E2348X	E	+	1	0	ZNF292	88027123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.192000	0.50989	2.659000	0.90383	0.585000	0.79938	GAA		0.363	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		T	87970404	G	T	87970404	4	4	124	1	0	0	0	0	0	1	0	0	17831	943	33	4	7087	4	ZNF292	6	87970404	Nonsense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	34182853	87970404	83144663	42	7522											
USP45	85015	hgsc.bcm.edu	37	6	99924089	99924089	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr6:99924089T>C	ENST00000327681.6	-	9	1395	c.863A>G	c.(862-864)gAt>gGt	p.D288G	USP45_ENST00000369233.2_Missense_Mutation_p.D288G|USP45_ENST00000500704.2_Missense_Mutation_p.D288G|USP45_ENST00000392738.2_Missense_Mutation_p.D26G	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	288	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TTGCTGGAAATCTTTAAATCG	0.363																																																0													79	77	78					6																	99924089		2203	4300	6503	SO:0001583	missense	85015			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.863A>G	6.37:g.99924089T>C	ENSP00000333376:p.Asp288Gly		B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	T	3.026	-0.200696	0.06219	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233;ENST00000511403	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.69	1.52	0.23074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.224286	0.45867	N	0.000323	T	0.01523	0.0049	N	0.00355	-1.605	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.48399	-0.9039	10	0.02654	T	1	.	6.9379	0.24476	0.0:0.6849:0.121:0.1941	.	288;26	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	G	26;288;288;288;44	ENSP00000376495:D26G;ENSP00000424372:D288G;ENSP00000333376:D288G;ENSP00000358236:D288G;ENSP00000423374:D44G	ENSP00000333376:D288G	D	-	2	0	USP45	100030810	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	1.683000	0.37638	-0.031000	0.13781	0.477000	0.44152	GAT		0.363	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		C	99924089	T	C	99924089	3	2	124	1	0	0	0	0	1	0	0	0	17081	1435	50	3	1621	3	USP45	6	99924089	Missense_Mutation	SNP	T	TCGA-B0-4691-01A-01D-1361-10	11953685	99924089	71190978	43	7523											
CTTNBP2	83992	hgsc.bcm.edu	37	7	117431331	117431331	+	Missense_Mutation	SNP	G	G	T	rs201032165		TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr7:117431331G>T	ENST00000160373.3	-	4	2010	c.1919C>A	c.(1918-1920)cCt>cAt	p.P640H	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	640					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGTTGCAGCAGGCCAGGCACC	0.562																																																0													92	84	87					7																	117431331		2203	4300	6503	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1919C>A	7.37:g.117431331G>T	ENSP00000160373:p.Pro640His		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034481	0.54896	.	.	ENSG00000077063	ENST00000160373	T	0.67865	-0.29	5.74	3.92	0.45320	.	0.250831	0.48286	D	0.000194	T	0.74122	0.3675	M	0.72118	2.19	0.37353	D	0.910873	D	0.58970	0.984	P	0.56514	0.8	T	0.78481	-0.2187	10	0.45353	T	0.12	-4.398	10.9732	0.47450	0.0714:0.1451:0.7835:0.0	.	640	Q8WZ74	CTTB2_HUMAN	H	640	ENSP00000160373:P640H	ENSP00000160373:P640H	P	-	2	0	CTTNBP2	117218567	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.477000	0.60223	1.559000	0.49555	0.563000	0.77884	CCT		0.562	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		T	117431331	G	T	117431331	3	4	124	1	0	0	0	0	1	0	0	0	4047	1000	35	4	3152	4	CTTNBP2	7	117431331	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10		117431331	41707332	44	7524											
TRPV6	55503	hgsc.bcm.edu	37	7	142571254	142571254	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr7:142571254C>A	ENST00000359396.3	-	13	1980	c.1735G>T	c.(1735-1737)Ggc>Tgc	p.G579C	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	579					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGAGTGTCGCCCATCATGGCA	0.597																																																0													156	129	138					7																	142571254		2203	4300	6503	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1735G>T	7.37:g.142571254C>A	ENSP00000352358:p.Gly579Cys		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447464	0.84101	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.86164	-2.08	5.57	5.57	0.84162	.	0.049164	0.85682	D	0.000000	D	0.93749	0.8002	M	0.81341	2.54	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	D	0.94222	0.7468	10	0.87932	D	0	-17.0116	18.5442	0.91040	0.0:1.0:0.0:0.0	.	579	Q9H1D0	TRPV6_HUMAN	C	579;411	ENSP00000352358:G579C	ENSP00000310825:G411C	G	-	1	0	TRPV6	142281376	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.595000	0.67563	2.613000	0.88420	0.655000	0.94253	GGC		0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		A	142571254	C	A	142571254	3	1	124	1	0	0	0	0	1	0	0	0	16605	623	22	4	454	4	TRPV6	7	142571254	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	25139923	142571254	16567409	45	7525											
PIP	5304	hgsc.bcm.edu	37	7	142832380	142832380	+	Silent	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr7:142832380A>G	ENST00000291009.3	+	2	229	c.189A>G	c.(187-189)aaA>aaG	p.K63K		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	63					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CAGAATTGAAAGAATGCATGG	0.368																																																0													56	51	52					7																	142832380		2203	4299	6502	SO:0001819	synonymous_variant	5304				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.189A>G	7.37:g.142832380A>G			A0A963|A0A9C3|A0A9F3|A4D2I1	Silent	SNP	ENST00000291009.3	37	CCDS34768.1																																																																																				0.368	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		G	142832380	A	G	142832380	2	3	124	1	0	0	0	0	0	0	0	1	11937	69	3	3		3	PIP	7	142832380	Silent	SNP	A	TCGA-B0-4691-01A-01D-1361-10	261126	142832380	16306283	46	7526											
EZH2	2146	hgsc.bcm.edu	37	7	148512045	148512045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr7:148512045G>A	ENST00000460911.1	-	14	1706	c.1618C>T	c.(1618-1620)Caa>Taa	p.Q540*	EZH2_ENST00000476773.1_Intron|EZH2_ENST00000320356.2_Nonsense_Mutation_p.Q545*|EZH2_ENST00000541220.1_Intron|EZH2_ENST00000350995.2_Nonsense_Mutation_p.Q501*|EZH2_ENST00000478654.1_Intron|EZH2_ENST00000483967.1_Nonsense_Mutation_p.Q531*			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	540	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CAAAAATTTTGTGCTATCACA	0.388			Mis		DLBCL																																		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													87	82	84					7																	148512045		2203	4300	6503	SO:0001587	stop_gained	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1618C>T	7.37:g.148512045G>A	ENSP00000419711:p.Gln540*		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Nonsense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	g	39	7.316878	0.98207	.	.	ENSG00000106462	ENST00000320356;ENST00000460911;ENST00000350995;ENST00000483967	.	.	.	5.32	5.32	0.75619	.	0.060720	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	19.0233	0.92923	0.0:0.0:1.0:0.0	.	.	.	.	X	545;540;501;531	.	ENSP00000320147:Q545X	Q	-	1	0	EZH2	148142978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.460000	0.97641	2.481000	0.83766	0.563000	0.77884	CAA		0.388	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		A	148512045	G	A	148512045	4	1	124	1	0	0	0	0	0	1	0	0	5336	1386	48	2	650	2	EZH2	7	148512045	Nonsense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	5679665	148512045	10626618	47	7527											
ZNF777	27153	hgsc.bcm.edu;ucsc.edu	37	7	149133877	149133877	+	Missense_Mutation	SNP	G	G	T	rs368317468		TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr7:149133877G>T	ENST00000247930.4	-	5	1451	c.1128C>A	c.(1126-1128)aaC>aaA	p.N376K		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	376	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCCCTCGTCGTTGGTCTGTA	0.572																																																0													84	86	85					7																	149133877		1960	4136	6096	SO:0001583	missense	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1128C>A	7.37:g.149133877G>T	ENSP00000247930:p.Asn376Lys		Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245104	0.59103	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.04706	3.57	5.66	-2.26	0.06867	.	0.000000	0.64402	D	0.000014	T	0.07818	0.0196	N	0.24115	0.695	0.28815	N	0.898025	D	0.71674	0.998	D	0.81914	0.995	T	0.12142	-1.0559	10	0.25751	T	0.34	-34.4006	10.8812	0.46939	0.5718:0.0:0.4282:0.0	.	376	Q9ULD5-2	.	K	376;119	ENSP00000247930:N376K	ENSP00000247930:N376K	N	-	3	2	ZNF777	148764810	0.150000	0.22732	0.983000	0.44433	0.992000	0.81027	-0.730000	0.04915	-0.365000	0.08076	0.555000	0.69702	AAC		0.572	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		T	149133877	G	T	149133877	3	4	124	1	0	0	0	0	1	0	0	0	18155	1136	40	4	1375	4	ZNF777	7	149133877	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	621832	149133877	10004786	48	7528											
PRKAG2	51422	hgsc.bcm.edu;ucsc.edu	37	7	151483611	151483611	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr7:151483611G>A	ENST00000287878.4	-	2	635	c.131C>T	c.(130-132)gCc>gTc	p.A44V	PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	44					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	GAGCGGCATGGCGAAGGAGCT	0.597																																																0													79	62	68					7																	151483611		2203	4300	6503	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.131C>T	7.37:g.151483611G>A	ENSP00000287878:p.Ala44Val		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859386	0.71834	.	.	ENSG00000106617	ENST00000287878	D	0.87103	-2.21	5.34	5.34	0.76211	.	0.152287	0.43110	D	0.000612	D	0.89234	0.6657	L	0.27053	0.805	0.80722	D	1	D;P	0.71674	0.998;0.689	D;B	0.80764	0.994;0.223	D	0.90536	0.4499	10	0.72032	D	0.01	.	15.8511	0.78930	0.0:0.0:1.0:0.0	.	44;44	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	V	44	ENSP00000287878:A44V	ENSP00000287878:A44V	A	-	2	0	PRKAG2	151114544	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.746000	0.68681	2.516000	0.84829	0.644000	0.83932	GCC		0.597	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		A	151483611	G	A	151483611	3	1	124	1	0	0	0	0	1	0	0	0	12506	1203	42	2	1638	2	PRKAG2	7	151483611	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	2349734	151483611	7655052	49	7529											
CSMD1	64478	hgsc.bcm.edu	37	8	3265502	3265502	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr8:3265502C>A	ENST00000520002.1	-	15	2548	c.1993G>T	c.(1993-1995)Gcc>Tcc	p.A665S	CSMD1_ENST00000539096.1_Missense_Mutation_p.A664S|CSMD1_ENST00000537824.1_Missense_Mutation_p.A664S|CSMD1_ENST00000602723.1_Missense_Mutation_p.A665S|CSMD1_ENST00000400186.3_Missense_Mutation_p.A665S|CSMD1_ENST00000542608.1_Missense_Mutation_p.A664S|CSMD1_ENST00000602557.1_Missense_Mutation_p.A665S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	665	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACTGCTGGCCAGCTGGGAA	0.488																																																0													76	71	73					8																	3265502		1950	4149	6099	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1993G>T	8.37:g.3265502C>A	ENSP00000430733:p.Ala665Ser		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.85|17.85	3.490778|3.490778	0.64074|0.64074	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38;1.38|.	5.23|5.23	4.35|4.35	0.52113|0.52113	CUB (5);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.39911|0.39911	0.1096|0.1096	N|N	0.11870|0.11870	0.19|0.19	0.44061|0.44061	D|D	0.996807|0.996807	D;P|.	0.67145|.	0.996;0.645|.	D;P|.	0.83275|.	0.996;0.542|.	T|T	0.20306|0.20306	-1.0279|-1.0279	10|5	0.23302|.	T|.	0.38|.	.|.	13.9368|13.9368	0.64029|0.64029	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	665;665|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	S|V	665;665;527;664;664;664|144	ENSP00000383047:A665S;ENSP00000430733:A665S;ENSP00000441462:A664S;ENSP00000446243:A664S;ENSP00000441675:A664S|.	ENSP00000320445:A527S|.	A|G	-|-	1|2	0|0	CSMD1|CSMD1	3252909|3252909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.919000|0.919000	0.55068|0.55068	3.795000|3.795000	0.55499|0.55499	1.197000|1.197000	0.43143|0.43143	0.467000|0.467000	0.42956|0.42956	GCC|GGC		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3265502	C	A	3265502	3	1	124	1	0	0	0	0	1	0	0	0	3946	739	26	4	8932	4	CSMD1	8	3265502	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10		3265502	143098520	50	7530											
RLN1	6013	hgsc.bcm.edu	37	9	5339628	5339629	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr9:5339628_5339629delAC	ENST00000223862.1	-	1	244_245	c.118_119delGT	c.(118-120)gttfs	p.V40fs	RLN1_ENST00000487557.2_5'Flank|RLN1_ENST00000223858.4_Frame_Shift_Del_p.V40fs	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	40					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		CTGCGCGCGAACTAATTCGCGG	0.51																																																0																																										SO:0001589	frameshift_variant	6013				CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"Endogenous ligands"	10026	protein-coding gene	gene with protein product	"prorelaxin H1"	179730	"relaxin 1 (H1)"				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.118_119delGT	9.37:g.5339628_5339629delAC	ENSP00000223862:p.Val40fs		Q99936|Q9UQJ1	Frame_Shift_Del	DEL	ENST00000223862.1	37	CCDS6462.1																																																																																				0.51	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051617.1			-	5339629	AC	-	5339628	7	5	124	1	0	1	0	1	0	0	0	0	13397	43	2	0	446	0	RLN1	9	5339628	Frame_Shift_Del	DEL	AC	TCGA-B0-4691-01A-01D-1361-10		5339628	135873803	51	7531											
RALGDS	5900	hgsc.bcm.edu	37	9	135985694	135985694	+	Silent	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr9:135985694C>A	ENST00000372050.3	-	3	498	c.477G>T	c.(475-477)ctG>ctT	p.L159L	RALGDS_ENST00000393160.3_Silent_p.L104L|RALGDS_ENST00000393157.3_Silent_p.L158L|RALGDS_ENST00000372062.3_Silent_p.L142L|RALGDS_ENST00000372047.3_Silent_p.L159L|RALGDS_ENST00000542690.1_Silent_p.L230L|RALGDS_ENST00000469972.1_5'Flank	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	159	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTTTGAACAGCAGGTCCAGGA	0.617			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0													107	91	96					9																	135985694		2202	4300	6502	SO:0001819	synonymous_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.477G>T	9.37:g.135985694C>A			B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	ENST00000372050.3	37	CCDS6959.1																																																																																				0.617	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		A	135985694	C	A	135985694	2	1	124	1	0	0	0	0	0	0	0	1	13022	697	25	4		4	RALGDS	9	135985694	Silent	SNP	C	TCGA-B0-4691-01A-01D-1361-10	130646066	135985694	5227737	52	7532											
PITRM1	10531	hgsc.bcm.edu;ucsc.edu	37	10	3200259	3200259	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr10:3200259A>G	ENST00000224949.4	-	11	1257	c.1223T>C	c.(1222-1224)aTa>aCa	p.I408T	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.I376T|PITRM1_ENST00000380989.2_Missense_Mutation_p.I408T			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	408					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGTTCTGTCTATGAGGCTTCT	0.458																																																0													124	117	120					10																	3200259		1969	4159	6128	SO:0001583	missense	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1223T>C	10.37:g.3200259A>G	ENSP00000224949:p.Ile408Thr		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	a	15.55	2.865330	0.51588	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.10005	2.92;2.92;2.92	5.58	5.58	0.84498	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.214718	0.47852	D	0.000216	T	0.44623	0.1302	M	0.93720	3.45	0.22552	N	0.998995	B;B;B;B;B;B	0.33883	0.39;0.403;0.376;0.43;0.43;0.43	B;P;P;P;P;P	0.55455	0.367;0.641;0.667;0.776;0.776;0.776	T	0.45264	-0.9273	10	0.87932	D	0	-10.843	15.7366	0.77849	1.0:0.0:0.0:0.0	.	401;376;408;408;408;401	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	T	408;401;408;376	ENSP00000224949:I408T;ENSP00000370377:I408T;ENSP00000401201:I376T	ENSP00000224949:I408T	I	-	2	0	PITRM1	3190259	1.000000	0.71417	0.003000	0.11579	0.012000	0.07955	6.268000	0.72552	2.126000	0.65437	0.460000	0.39030	ATA		0.458	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			G	3200259	A	G	3200259	3	3	124	1	0	0	0	0	1	0	0	0	11955	449	16	3	1958	3	PITRM1	10	3200259	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10		3200259	132334488	53	7533											
HSPA14	51182	hgsc.bcm.edu;ucsc.edu	37	10	14893312	14893312	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr10:14893312A>T	ENST00000378372.3	+	7	801	c.562A>T	c.(562-564)Act>Tct	p.T188S		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	188					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AGACTCCCCTACTGGAAAAAG	0.353																																																0													117	116	117					10																	14893312		2203	4300	6503	SO:0001583	missense	51182			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.562A>T	10.37:g.14893312A>T	ENSP00000367623:p.Thr188Ser		A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	A	9.342	1.063220	0.19987	.	.	ENSG00000187522	ENST00000378372	T	0.01209	5.17	5.62	4.49	0.54785	.	0.200560	0.48286	D	0.000194	T	0.00815	0.0027	N	0.05306	-0.075	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.63611	-0.6598	10	0.21014	T	0.42	-10.0098	11.3641	0.49662	0.9291:0.0:0.0709:0.0	.	188	Q0VDF9	HSP7E_HUMAN	S	188	ENSP00000367623:T188S	ENSP00000367623:T188S	T	+	1	0	HSPA14	14933318	0.672000	0.27530	1.000000	0.80357	0.934000	0.57294	1.067000	0.30616	0.951000	0.37770	0.528000	0.53228	ACT		0.353	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		T	14893312	A	T	14893312	3	4	124	1	0	0	0	0	1	0	0	0	7409	391	14	5	588	5	HSPA14	10	14893312	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	11693053	14893312	120641435	54	7534											
P4HA1	5033	hgsc.bcm.edu;ucsc.edu	37	10	74806681	74806681	+	Splice_Site	SNP	A	A	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr10:74806681A>C	ENST00000307116.2	-	8	1194		c.e8+1		P4HA1_ENST00000263556.3_Splice_Site|P4HA1_ENST00000394890.2_Splice_Site|P4HA1_ENST00000412021.2_Splice_Site|P4HA1_ENST00000440381.1_Splice_Site|P4HA1_ENST00000373008.2_Splice_Site			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I						collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AACATTATTTACCCTTGGTTT	0.323																																					Colon(147;367 2405 2662 52127)											0													87	88	88					10																	74806681		2203	4300	6503	SO:0001630	splice_region_variant	5033				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1077+1T>G	10.37:g.74806681A>C			C9JL12|Q15082|Q15083|Q5VSQ5	Splice_Site	SNP	ENST00000307116.2	37		.	.	.	.	.	.	.	.	.	.	A	24.3	4.516215	0.85495	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1382	0.81506	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	P4HA1	74476687	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.938000	0.92943	2.211000	0.71520	0.528000	0.53228	.		0.323	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917	Intron	C	74806681	A	C	74806681	5	2	124	1	0	0	0	0	0	0	1	0	11358	405	14	5	632	5	P4HA1	10	74806681	Splice_Site	SNP	A	TCGA-B0-4691-01A-01D-1361-10	59913369	74806681	60728066	55	7535											
MMS19	64210	hgsc.bcm.edu	37	10	99220744	99220744	+	Silent	SNP	G	G	A	rs559287087		TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr10:99220744G>A	ENST00000438925.2	-	24	2667	c.2332C>T	c.(2332-2334)Cta>Tta	p.L778L	MMS19_ENST00000355839.6_Silent_p.L735L|MMS19_ENST00000370782.2_Silent_p.L778L|MMS19_ENST00000327277.7_Silent_p.S373S|MMS19_ENST00000327238.10_Silent_p.L680L	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	778					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		GCTAGCTGTAGGAATTCATCC	0.488								Direct reversal of damage					G|||	1	0.000199681	0.0	0.0	5008	,	,		20869	0.0		0.001	False		,,,				2504	0.0															0													28	28	28					10																	99220744		2199	4296	6495	SO:0001819	synonymous_variant	64210			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2332C>T	10.37:g.99220744G>A			B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Silent	SNP	ENST00000438925.2	37	CCDS7464.1																																																																																				0.488	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			A	99220744	G	A	99220744	2	1	124	1	0	0	0	0	0	0	0	1	9674	991	35	2		2	MMS19	10	99220744	Silent	SNP	G	TCGA-B0-4691-01A-01D-1361-10	24414063	99220744	36314003	56	7536											
MKI67	4288	hgsc.bcm.edu	37	10	129903530	129903530	+	Missense_Mutation	SNP	C	C	T	rs139058203		TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr10:129903530C>T	ENST00000368654.3	-	13	6949	c.6574G>A	c.(6574-6576)Gaa>Aaa	p.E2192K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1832K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2192	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAAGTCTTCTAGGGGTTGG	0.493																																																0													169	165	167					10																	129903530		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6574G>A	10.37:g.129903530C>T	ENSP00000357643:p.Glu2192Lys		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300234	0.60195	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04406	3.63;3.63	4.79	3.89	0.44902	.	0.624595	0.13866	N	0.357331	T	0.18882	0.0453	M	0.77486	2.375	0.44635	D	0.997619	D;D;D	0.89917	0.987;0.999;1.0	P;D;D	0.87578	0.728;0.987;0.998	T	0.04255	-1.0965	10	0.18710	T	0.47	.	11.4488	0.50140	0.0:0.9154:0.0:0.0846	.	2191;1832;2192	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	2192;1832;2191	ENSP00000357643:E2192K;ENSP00000357642:E1832K	ENSP00000357642:E1832K	E	-	1	0	MKI67	129793520	0.051000	0.20477	0.352000	0.25734	0.104000	0.19210	3.043000	0.49823	1.155000	0.42497	0.561000	0.74099	GAA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129903530	C	T	129903530	3	4	124	1	0	0	0	0	1	0	0	0	9600	922	32	2	3208	2	MKI67	10	129903530	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	30682786	129903530	5631217	57	7537											
COPB1	1315	hgsc.bcm.edu;ucsc.edu	37	11	14510041	14510041	+	Nonsense_Mutation	SNP	A	A	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr11:14510041A>C	ENST00000249923.3	-	6	996	c.696T>G	c.(694-696)taT>taG	p.Y232*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.Y232*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	232					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTCTTACCTTATAAATCAGTT	0.303																																																0													54	53	53					11																	14510041		2198	4286	6484	SO:0001587	stop_gained	1315			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.696T>G	11.37:g.14510041A>C	ENSP00000249923:p.Tyr232*		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Nonsense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	A	37	6.580450	0.97680	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	.	.	.	5.0	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.9415	0.29961	0.7091:0.0:0.2909:0.0	.	.	.	.	X	232	.	ENSP00000249923:Y232X	Y	-	3	2	COPB1	14466617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.297000	0.43593	0.843000	0.35070	0.533000	0.62120	TAT		0.303	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		C	14510041	A	C	14510041	4	2	124	1	0	0	0	0	0	1	0	0	3730	456	16	5	2233	5	COPB1	11	14510041	Nonsense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10		14510041	120496475	58	7538											
GTF2H1	2965	hgsc.bcm.edu	37	11	18359819	18359819	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr11:18359819C>A	ENST00000265963.4	+	4	671	c.511C>A	c.(511-513)Ctg>Atg	p.L171M	GTF2H1_ENST00000534641.1_Missense_Mutation_p.L55M|GTF2H1_ENST00000453096.2_Missense_Mutation_p.L171M|GTF2H1_ENST00000524753.4_5'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	171					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TGCTGCATTTCTGGTATGTGA	0.368								Nucleotide excision repair (NER)																																								0													125	115	119					11																	18359819		2199	4293	6492	SO:0001583	missense	2965				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.511C>A	11.37:g.18359819C>A	ENSP00000265963:p.Leu171Met		B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085879	0.76642	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963	T;T;T	0.38887	1.11;1.18;1.11	5.66	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71434	-0.4594	10	0.72032	D	0.01	-7.8362	12.0073	0.53268	0.0:0.8607:0.0:0.1393	.	171	P32780	TF2H1_HUMAN	M	171;55;171	ENSP00000393638:L171M;ENSP00000435375:L55M;ENSP00000265963:L171M	ENSP00000265963:L171M	L	+	1	2	GTF2H1	18316395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.612000	0.61169	0.768000	0.33290	0.650000	0.86243	CTG		0.368	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		A	18359819	C	A	18359819	3	1	124	1	0	0	0	0	1	0	0	0	6862	912	32	4	521	4	GTF2H1	11	18359819	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	3849778	18359819	116646697	59	7539											
DYNC2H1	79659	hgsc.bcm.edu	37	11	103025274	103025274	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr11:103025274T>G	ENST00000375735.2	+	23	3541	c.3397T>G	c.(3397-3399)Ttt>Gtt	p.F1133V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F1133V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1133	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATTTGGGCCTTTTATGAAGA	0.368																																																0													26	25	26					11																	103025274		1816	4071	5887	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3397T>G	11.37:g.103025274T>G	ENSP00000364887:p.Phe1133Val		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	7.739	0.700852	0.15172	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.59364	0.27;0.27	5.16	4.24	0.50183	Dynein heavy chain, domain-2 (1);	0.545067	0.14457	U	0.318409	T	0.26846	0.0657	N	0.02315	-0.6	0.24802	N	0.992696	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15150	-1.0447	10	0.19590	T	0.45	.	4.9066	0.13802	0.1517:0.609:0.0:0.2392	.	1133;1133	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	V	1133	ENSP00000364887:F1133V;ENSP00000381167:F1133V	ENSP00000364887:F1133V	F	+	1	0	DYNC2H1	102530484	0.922000	0.31269	0.952000	0.39060	0.982000	0.71751	1.752000	0.38349	1.165000	0.42670	-0.479000	0.04858	TTT		0.368	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103025274	T	G	103025274	3	3	124	1	0	0	0	0	1	0	0	0	4848	1609	56	5	3487	5	DYNC2H1	11	103025274	Missense_Mutation	SNP	T	TCGA-B0-4691-01A-01D-1361-10	84665455	103025274	31981242	60	7540											
SORL1	6653	hgsc.bcm.edu;ucsc.edu	37	11	121498365	121498365	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr11:121498365G>C	ENST00000260197.7	+	47	6595	c.6466G>C	c.(6466-6468)Gcc>Ccc	p.A2156P	SORL1_ENST00000525532.1_Missense_Mutation_p.A1100P|SORL1_ENST00000534286.1_Missense_Mutation_p.A1066P|SORL1_ENST00000527934.1_Missense_Mutation_p.A771P|SORL1_ENST00000532694.1_Missense_Mutation_p.A1002P	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2156					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGTGGGGTTTGCCATCCTGTA	0.592																																																0													101	87	92					11																	121498365		2202	4299	6501	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.6466G>C	11.37:g.121498365G>C	ENSP00000260197:p.Ala2156Pro		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896397	0.91962	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.92495	-3.05;-2.8;-2.45;-2.48;-2.36	5.74	4.82	0.62117	.	0.148154	0.42821	D	0.000644	D	0.87346	0.6154	N	0.14661	0.345	0.40161	D	0.977066	D;P	0.57257	0.979;0.924	P;B	0.47299	0.543;0.255	D	0.89415	0.3706	10	0.59425	D	0.04	.	15.032	0.71713	0.0692:0.0:0.9308:0.0	.	771;2156	E9PKB0;Q92673	.;SORL_HUMAN	P	2156;1100;1002;1066;771	ENSP00000260197:A2156P;ENSP00000434634:A1100P;ENSP00000432131:A1002P;ENSP00000436447:A1066P;ENSP00000435405:A771P	ENSP00000260197:A2156P	A	+	1	0	SORL1	121003575	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	3.868000	0.56055	2.709000	0.92574	0.655000	0.94253	GCC		0.592	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		C	121498365	G	C	121498365	3	2	124	1	0	0	0	0	1	0	0	0	14940	1319	46	4	6652	4	SORL1	11	121498365	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	18473091	121498365	13508151	61	7541											
GRAMD1B	57476	hgsc.bcm.edu	37	11	123477468	123477468	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr11:123477468C>A	ENST00000529750.1	+	10	1373	c.1046C>A	c.(1045-1047)cCc>cAc	p.P349H	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.P356H|GRAMD1B_ENST00000450171.2_5'Flank|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.P349H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	349						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GAGGACATCCCCACTGAGCTC	0.498																																																0													67	68	68					11																	123477468		2007	4170	6177	SO:0001583	missense	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1046C>A	11.37:g.123477468C>A	ENSP00000436500:p.Pro349His		Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333067	0.81801	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.35605	1.71;1.71;1.71;1.72;1.3	5.25	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.984;0.999;0.998;0.99	T	0.58634	-0.7602	10	0.66056	D	0.02	.	13.9513	0.64118	0.0:0.9264:0.0:0.0736	.	309;356;349;356	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	H	356;356;349;349;309;345	ENSP00000402457:P356H;ENSP00000325628:P349H;ENSP00000436500:P349H;ENSP00000432987:P309H;ENSP00000434214:P345H	ENSP00000325628:P349H	P	+	2	0	GRAMD1B	122982678	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.755000	0.85180	1.200000	0.43188	0.462000	0.41574	CCC		0.498	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		A	123477468	C	A	123477468	3	1	124	1	0	0	0	0	1	0	0	0	6750	623	22	4	1084	4	GRAMD1B	11	123477468	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	1979103	123477468	11529048	62	7542											
OR10G7	390265	hgsc.bcm.edu	37	11	123909172	123909172	+	Silent	SNP	G	G	A	rs28414940	byFrequency	TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr11:123909172G>A	ENST00000330487.5	-	1	545	c.537C>T	c.(535-537)gaC>gaT	p.D179D		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGGCGGTGCGTCACAGAAGT	0.542													G|||	1129	0.225439	0.0356	0.2867	5008	,	,		22868	0.3135		0.2823	False		,,,				2504	0.2894															0								G		377,4025	190.9+/-216.7	20,337,1844	210	202	205		537	-3	0.6	11	dbSNP_125	205	2604,5990	418.8+/-352.9	359,1886,2052	no	coding-synonymous	OR10G7	NM_001004463.1		379,2223,3896	AA,AG,GG		30.3002,8.5643,22.9378		179/312	123909172	2981,10015	2201	4297	6498	SO:0001819	synonymous_variant	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.537C>T	11.37:g.123909172G>A			Q6IFE8	Silent	SNP	ENST00000330487.5	37	CCDS31705.1																																																																																				0.542	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		A	123909172	G	A	123909172	2	1	124	1	0	0	0	0	0	0	0	1	10904	1136	40	1		1	OR10G7	11	123909172	Silent	SNP	G	TCGA-B0-4691-01A-01D-1361-10	431704	123909172	11097344	63	7543											
PLEKHA5	54477	hgsc.bcm.edu	37	12	19440437	19440437	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr12:19440437C>A	ENST00000299275.6	+	12	1798	c.1792C>A	c.(1792-1794)Cca>Aca	p.P598T	PLEKHA5_ENST00000317589.4_Missense_Mutation_p.P598T|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.P604T|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.P598T|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.P598T|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.P598T|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.P356T|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.P490T|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.P490T|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.P598T	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	598					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGGTCAGTGCCAGCTGGCCT	0.408																																					Pancreas(196;329 2193 11246 14234 19524)											0													114	113	113					12																	19440437		2203	4300	6503	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1792C>A	12.37:g.19440437C>A	ENSP00000299275:p.Pro598Thr		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790589	0.90367	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.61274	2.45;0.12;2.45;2.45;0.12;2.45;2.45;0.12;0.52;0.52;2.45	5.86	5.86	0.93980	.	0.164899	0.56097	D	0.000040	T	0.79287	0.4420	M	0.79926	2.475	0.53688	D	0.999975	D;P;P;D;D;D;P	0.89917	0.996;0.532;0.853;1.0;1.0;0.973;0.849	D;B;P;D;D;P;P	0.91635	0.985;0.376;0.505;0.999;0.998;0.658;0.555	T	0.80372	-0.1410	10	0.72032	D	0.01	-14.9146	20.1859	0.98214	0.0:1.0:0.0:0.0	.	598;490;490;604;604;598;598	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	T	598;598;598;605;598;604;598;356;598;490;490;490	ENSP00000325155:P598T;ENSP00000347560:P598T;ENSP00000352104:P598T;ENSP00000311239:P598T;ENSP00000404296:P604T;ENSP00000299275:P598T;ENSP00000440611:P356T;ENSP00000439673:P598T;ENSP00000400411:P490T;ENSP00000439837:P490T;ENSP00000440371:P490T	ENSP00000299275:P598T	P	+	1	0	PLEKHA5	19331704	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.811000	0.62606	2.777000	0.95525	0.591000	0.81541	CCA		0.408	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		A	19440437	C	A	19440437	3	1	124	1	0	0	0	0	1	0	0	0	12061	739	26	4	1838	4	PLEKHA5	12	19440437	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10		19440437	114411458	64	7544											
FAM113B	91523	hgsc.bcm.edu	37	12	47630058	47630058	+	Silent	SNP	T	T	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr12:47630058T>A	ENST00000546455.1	+	4	1943	c.1212T>A	c.(1210-1212)cgT>cgA	p.R404R	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.R404R			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	404	Pro-rich.						hydrolase activity (GO:0016787)										GCAGGTATCGTCCCCGTGGCC	0.597																																																0													70	66	67					12																	47630058		2203	4300	6503	SO:0001819	synonymous_variant	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1212T>A	12.37:g.47630058T>A			Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	6.744	0.506005	0.12883	.	.	ENSG00000179715	ENST00000330951	.	.	.	4.04	-8.08	0.01094	.	.	.	.	.	T	0.34658	0.0905	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.49934	-0.8886	5	0.87932	D	0	11.4603	6.6992	0.23215	0.4518:0.0:0.3587:0.1895	.	.	.	.	D	248	.	ENSP00000328560:V248D	V	+	2	0	FAM113B	45916325	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.880000	0.01627	-2.435000	0.00554	0.533000	0.62120	GTC		0.597	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		A	47630058	T	A	47630058	2	1	124	1	0	0	0	0	0	0	0	1	5404	1654	58	5		5	FAM113B	12	47630058	Silent	SNP	T	TCGA-B0-4691-01A-01D-1361-10	28189621	47630058	86221837	65	7545											
ITGB7	3695	hgsc.bcm.edu	37	12	53586257	53586257	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr12:53586257G>C	ENST00000267082.5	-	14	2243	c.2012C>G	c.(2011-2013)gCc>gGc	p.A671G	ITGB7_ENST00000550743.2_Missense_Mutation_p.A523G|ITGB7_ENST00000422257.3_Missense_Mutation_p.A671G|ITGB7_ENST00000338737.4_Missense_Mutation_p.A523G	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	671					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTGGTATGGGCACAAGCTGT	0.567																																																0													117	104	108					12																	53586257		2203	4300	6503	SO:0001583	missense	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2012C>G	12.37:g.53586257G>C	ENSP00000267082:p.Ala671Gly		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.42|10.42	1.344727|1.344727	0.24426|0.24426	.|.	.|.	ENSG00000139626|ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737|ENST00000542497	D;D;D|D	0.90444|0.94793	-1.62;-1.62;-2.67|-3.52	4.3|4.3	4.3|4.3	0.51218|0.51218	Integrin beta subunit, tail (1);|.	0.000000|.	0.42420|.	D|.	0.000707|.	D|D	0.93070|0.93070	0.7794|0.7794	L|L	0.42245|0.42245	1.32|1.32	0.21527|0.21527	N|N	0.999659|0.999659	P|.	0.38504|.	0.634|.	B|.	0.36378|.	0.223|.	D|D	0.87850|0.87850	0.2657|0.2657	10|7	0.22109|0.87932	T|D	0.4|0	.|.	9.9348|9.9348	0.41545|0.41545	0.0:0.0:0.6824:0.3176|0.0:0.0:0.6824:0.3176	.|.	671|.	P26010|.	ITB7_HUMAN|.	G|W	671;671;523|458	ENSP00000408741:A671G;ENSP00000267082:A671G;ENSP00000345501:A523G|ENSP00000437375:C458W	ENSP00000267082:A671G|ENSP00000437375:C458W	A|C	-|-	2|3	0|2	ITGB7|ITGB7	51872524|51872524	0.001000|0.001000	0.12720|0.12720	0.985000|0.985000	0.45067|0.45067	0.976000|0.976000	0.68499|0.68499	0.346000|0.346000	0.19997|0.19997	2.420000|2.420000	0.82092|0.82092	0.561000|0.561000	0.74099|0.74099	GCC|TGC		0.567	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			C	53586257	G	C	53586257	3	2	124	1	0	0	0	0	1	0	0	0	7902	1203	42	4	396	4	ITGB7	12	53586257	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	5956199	53586257	80265638	66	7546											
LRRIQ1	84125	hgsc.bcm.edu;ucsc.edu	37	12	85439805	85439805	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr12:85439805C>G	ENST00000393217.2	+	5	405	c.344C>G	c.(343-345)tCt>tGt	p.S115C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	115										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAGATATTATCTGAAATAGAA	0.299																																																0													61	61	61					12																	85439805		2203	4300	6503	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.344C>G	12.37:g.85439805C>G	ENSP00000376910:p.Ser115Cys		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.58|12.58	1.981011|1.981011	0.34942|0.34942	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000533414|ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	.|T;T	.|0.54479	.|1.37;0.57	4.17|4.17	3.18|3.18	0.36537|0.36537	.|.	.|0.423774	.|0.18070	.|N	.|0.152659	T|T	0.62612|0.62612	0.2442|0.2442	L|L	0.58101|0.58101	1.795|1.795	0.28095|0.28095	N|N	0.931659|0.931659	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.80764	.|0.976;0.994;0.987	T|T	0.52631|0.52631	-0.8550|-0.8550	5|10	.|0.51188	.|T	.|0.08	.|.	6.0741|6.0741	0.19905|0.19905	0.0:0.8573:0.0:0.1427|0.0:0.8573:0.0:0.1427	.|.	.|115;115;115	.|Q96JM4-2;Q96JM4;C9JI57	.|.;LRIQ1_HUMAN;.	V|C	13|115	.|ENSP00000376906:S115C;ENSP00000376910:S115C	.|ENSP00000256007:S115C	L|S	+|+	1|2	2|0	LRRIQ1|LRRIQ1	83963936|83963936	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.801000|0.801000	0.45260|0.45260	0.651000|0.651000	0.24873|0.24873	2.138000|2.138000	0.66242|0.66242	0.585000|0.585000	0.79938|0.79938	CTG|TCT		0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		G	85439805	C	G	85439805	3	3	124	1	0	0	0	0	1	0	0	0	9031	913	32	4	358	4	LRRIQ1	12	85439805	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	31853548	85439805	48412090	67	7547											
P2RX2	22953	hgsc.bcm.edu	37	12	133198303	133198303	+	Silent	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr12:133198303C>A	ENST00000389110.3	+	11	1198	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P	P2RX2_ENST00000350048.5_Silent_p.P363P|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000351222.4_Silent_p.P295P|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000343948.4_Silent_p.P413P|P2RX2_ENST00000352418.4_Silent_p.P315P	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	387					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CGAGCCACCCCTCAGGTAGCT	0.592																																																0													65	64	64					12																	133198303		2203	4300	6503	SO:0001819	synonymous_variant	22953			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.1161C>A	12.37:g.133198303C>A			A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Silent	SNP	ENST00000389110.3	37	CCDS31931.1																																																																																				0.592	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			A	133198303	C	A	133198303	2	1	124	1	0	0	0	0	0	0	0	1	11342	668	24	4		4	P2RX2	12	133198303	Silent	SNP	C	TCGA-B0-4691-01A-01D-1361-10	47758498	133198303	653592	68	7548											
C1QTNF9	338872	hgsc.bcm.edu	37	13	24895240	24895240	+	Silent	SNP	G	G	A	rs200205073	byFrequency	TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr13:24895240G>A	ENST00000382071.2	+	4	421	c.336G>A	c.(334-336)aaG>aaA	p.K112K	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Silent_p.K112K			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	112	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TGGGAGAGAAGGGCCTCCGAG	0.587													A|||	2170	0.433307	0.2186	0.536	5008	,	,		10534	0.5169		0.6054	False		,,,				2504	0.3875															0													38	22	29					13																	24895240		1844	2724	4568	SO:0001819	synonymous_variant	338872			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.336G>A	13.37:g.24895240G>A			A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382071.2	37	CCDS9306.1																																																																																				0.587	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		A	24895240	G	A	24895240	2	1	124	1	0	0	0	0	0	0	0	1	1972	991	35	2		2	C1QTNF9	13	24895240	Silent	SNP	G	TCGA-B0-4691-01A-01D-1361-10		24895240	90274638	69	7549											
FRY	10129	hgsc.bcm.edu	37	13	32836597	32836597	+	Silent	SNP	T	T	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr13:32836597T>C	ENST00000380250.3	+	53	8260	c.7764T>C	c.(7762-7764)atT>atC	p.I2588I	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2588						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I2588I(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATCTGCAGATTTCTGAGGGTT	0.393																																																1	Substitution - coding silent(1)	lung(1)											85	82	83					13																	32836597		1865	4113	5978	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7764T>C	13.37:g.32836597T>C			Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1																																																																																				0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		C	32836597	T	C	32836597	2	2	124	1	0	0	0	0	0	0	0	1	6065	1829	64	3		3	FRY	13	32836597	Silent	SNP	T	TCGA-B0-4691-01A-01D-1361-10	7941357	32836597	82333281	70	7550											
KIAA0564	23078	hgsc.bcm.edu	37	13	42460952	42460952	+	Silent	SNP	C	C	T	rs138269345		TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr13:42460952C>T	ENST00000379310.3	-	7	899	c.831G>A	c.(829-831)ttG>ttA	p.L277L	VWA8_ENST00000281496.6_Silent_p.L277L	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	277						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TTGAATATAACAACTTAAGTT	0.279																																																0								C	,	0,4400		0,0,2200	51	57	55		831,831	-1.5	0	13	dbSNP_134	55	1,8555	1.2+/-3.3	0,1,4277	no	coding-synonymous,coding-synonymous	KIAA0564	NM_001009814.1,NM_015058.1	,	0,1,6477	TT,TC,CC		0.0117,0.0,0.0077	,	277/1040,277/1906	42460952	1,12955	2200	4278	6478	SO:0001819	synonymous_variant	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.831G>A	13.37:g.42460952C>T			O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	CCDS41881.1																																																																																				0.279	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		T	42460952	C	T	42460952	2	4	124	1	0	0	0	0	0	0	0	1	8187	477	17	2		2	KIAA0564	13	42460952	Silent	SNP	C	TCGA-B0-4691-01A-01D-1361-10	9624355	42460952	72708926	71	7551											
MYCBP2	23077	hgsc.bcm.edu;ucsc.edu	37	13	77669615	77669615	+	Silent	SNP	T	T	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr13:77669615T>C	ENST00000544440.2	-	58	9980	c.9963A>G	c.(9961-9963)gaA>gaG	p.E3321E	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Silent_p.E3359E|MYCBP2_ENST00000482517.1_5'Flank|MYCBP2_ENST00000357337.6_Silent_p.E3321E					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAATGCTCGGTTCTGCTGCAC	0.502																																																0													133	122	125					13																	77669615		2203	4300	6503	SO:0001819	synonymous_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9963A>G	13.37:g.77669615T>C				Silent	SNP	ENST00000544440.2	37																																																																																					0.502	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		C	77669615	T	C	77669615	2	2	124	1	0	0	0	0	0	0	0	1	10020	1722	60	3		3	MYCBP2	13	77669615	Silent	SNP	T	TCGA-B0-4691-01A-01D-1361-10	35208663	77669615	37500263	72	7552											
COL4A2	1284	hgsc.bcm.edu	37	13	111156500	111156500	+	Missense_Mutation	SNP	C	C	T	rs139124960		TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr13:111156500C>T	ENST00000360467.5	+	45	4597	c.4291C>T	c.(4291-4293)Cgt>Tgt	p.R1431C	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1431	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.R1431C(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCAGGTTTCCGTGGGGCTCC	0.612																																																1	Substitution - Missense(1)	skin(1)											53	59	57					13																	111156500		1936	4130	6066	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4291C>T	13.37:g.111156500C>T	ENSP00000353654:p.Arg1431Cys		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661176	0.47572	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93906	-3.31	5.2	5.2	0.72013	.	0.000000	0.52532	D	0.000072	D	0.91529	0.7325	M	0.69185	2.1	0.44789	D	0.997794	P	0.44044	0.825	B	0.38842	0.283	D	0.92063	0.5658	10	0.56958	D	0.05	.	13.3852	0.60791	0.1987:0.8013:0.0:0.0	.	1431	P08572	CO4A2_HUMAN	C	1431	ENSP00000353654:R1431C	ENSP00000257309:R1431C	R	+	1	0	COL4A2	109954501	0.877000	0.30153	0.909000	0.35828	0.887000	0.51463	2.389000	0.44407	2.423000	0.82170	0.561000	0.74099	CGT		0.612	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		T	111156500	C	T	111156500	3	4	124	1	0	0	0	0	1	0	0	0	3692	652	23	1	4465	1	COL4A2	13	111156500	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	33486885	111156500	4013378	73	7553											
DHRS4L1	728635	hgsc.bcm.edu	37	14	24513063	24513063	+	RNA	SNP	A	A	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr14:24513063A>C	ENST00000558293.1	+	0	437					NR_102693.1																						actgcagaagaagcatggtgc	0.463																																																0													106	120	115					14																	24513063		1006	2119	3125			728635																															14.37:g.24513063A>C				Missense_Mutation	SNP	ENST00000558293.1	37		.	.	.	.	.	.	.	.	.	.	A	5.391	0.257325	0.10239	.	.	ENSG00000225766	ENST00000397065	.	.	.	0.109	0.109	0.14578	NAD(P)-binding domain (1);	.	.	.	.	T	0.34308	0.0893	L	0.37630	1.12	.	.	.	B	0.06786	0.001	B	0.21546	0.035	T	0.34502	-0.9826	6	0.36615	T	0.2	.	.	.	.	.	135	P0CG22	DR4L1_HUMAN	A	135	.	ENSP00000380255:E135A	E	+	2	0	AL136295.1	23582903	0.426000	0.25506	0.224000	0.23877	0.227000	0.25037	0.335000	0.19806	0.156000	0.19299	0.155000	0.16302	GAA		0.463	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			C	24513063	A	C	24513063	1	2	124	0	1	0	0	0	0	0	0	0	4495	246	9	5		5	DHRS4L1	14	24513063	RNA	SNP	A	TCGA-B0-4691-01A-01D-1361-10		24513063	82836477	74	7554											
PNN	5411	hgsc.bcm.edu	37	14	39650383	39650383	+	Silent	SNP	C	C	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr14:39650383C>T	ENST00000216832.4	+	9	1537	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	490	Gln-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		aatcccagtcccaaccAGTAC	0.517																																																0													56	57	57					14																	39650383		2203	4300	6503	SO:0001819	synonymous_variant	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1470C>T	14.37:g.39650383C>T			B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	37	CCDS9671.1																																																																																				0.517	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		T	39650383	C	T	39650383	2	4	124	1	0	0	0	0	0	0	0	1	12162	610	22	2		2	PNN	14	39650383	Silent	SNP	C	TCGA-B0-4691-01A-01D-1361-10	15137320	39650383	67699157	75	7555											
CDAN1	146059	hgsc.bcm.edu	37	15	43017754	43017754	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr15:43017754G>A	ENST00000356231.3	-	26	3406	c.3383C>T	c.(3382-3384)cCg>cTg	p.P1128L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1128					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAGCGGAACCGGCCCCTGAAA	0.597																																																0													48	50	49					15																	43017754		2203	4299	6502	SO:0001583	missense	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.3383C>T	15.37:g.43017754G>A	ENSP00000348564:p.Pro1128Leu		Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893474	0.72639	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87334	-2.24	5.72	3.85	0.44370	.	0.311094	0.40818	N	0.001002	D	0.89812	0.6823	L	0.43152	1.355	0.50632	D	0.999882	D;D	0.89917	0.996;1.0	P;D	0.91635	0.806;0.999	D	0.89286	0.3615	10	0.72032	D	0.01	-2.1211	10.9694	0.47431	0.1525:0.0:0.8475:0.0	.	1128;1126	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	L	1128;1126	ENSP00000348564:P1128L	ENSP00000267892:P1126L	P	-	2	0	CDAN1	40805046	1.000000	0.71417	0.684000	0.30055	0.689000	0.40095	3.643000	0.54374	0.768000	0.33290	0.563000	0.77884	CCG		0.597	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		A	43017754	G	A	43017754	3	1	124	1	0	0	0	0	1	0	0	0	3056	1116	39	1	312	1	CDAN1	15	43017754	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10		43017754	59513638	76	7556											
ONECUT1	3175	hgsc.bcm.edu	37	15	53049880	53049880	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr15:53049880A>T	ENST00000305901.5	-	2	1397	c.1270T>A	c.(1270-1272)Ttg>Atg	p.L424M	ONECUT1_ENST00000561401.2_5'UTR|ONECUT1_ENST00000560699.2_Silent_p.G64G	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	424					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTCAGCTCCAACCCCAGCTGC	0.493																																																0													162	151	155					15																	53049880		2194	4293	6487	SO:0001583	missense	3175			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1270T>A	15.37:g.53049880A>T	ENSP00000302630:p.Leu424Met		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.979276	0.53827	.	.	ENSG00000169856	ENST00000305901	D	0.98296	-4.85	6.16	1.4	0.22301	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	M	0.86178	2.8	0.80722	D	1	P	0.51537	0.946	D	0.77557	0.99	D	0.98237	1.0486	10	0.87932	D	0	-9.1088	8.9906	0.36022	0.6465:0.0:0.3535:0.0	.	424	Q9UBC0	HNF6_HUMAN	M	424	ENSP00000302630:L424M	ENSP00000302630:L424M	L	-	1	2	ONECUT1	50837172	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	2.779000	0.47734	-0.005000	0.14395	-0.263000	0.10527	TTG		0.493	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			T	53049880	A	T	53049880	3	4	124	1	0	0	0	0	1	0	0	0	10870	40	2	5	131	5	ONECUT1	15	53049880	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	10032126	53049880	49481512	77	7557											
HERC1	8925	hgsc.bcm.edu	37	15	63932415	63932415	+	Missense_Mutation	SNP	A	A	G	rs555948391		TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr15:63932415A>G	ENST00000443617.2	-	61	11924	c.11837T>C	c.(11836-11838)tTt>tCt	p.F3946S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3946					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGATTCTGGAAACTGGGCTCC	0.448																																																0													124	125	125					15																	63932415		1886	4102	5988	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11837T>C	15.37:g.63932415A>G	ENSP00000390158:p.Phe3946Ser		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.788426	0.90367	.	.	ENSG00000103657	ENST00000443617	T	0.27256	1.68	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.47861	-0.9084	10	0.87932	D	0	.	15.9998	0.80285	1.0:0.0:0.0:0.0	.	3946	Q15751	HERC1_HUMAN	S	3946	ENSP00000390158:F3946S	ENSP00000390158:F3946S	F	-	2	0	HERC1	61719468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.189000	0.69895	0.533000	0.62120	TTT		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		G	63932415	A	G	63932415	3	3	124	1	0	0	0	0	1	0	0	0	7059	14	1	3	2820	3	HERC1	15	63932415	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	10882535	63932415	38598977	78	7558											
SLC28A1	9154	hgsc.bcm.edu	37	15	85451987	85451987	+	Silent	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr15:85451987G>T	ENST00000286749.3	+	8	846	c.756G>T	c.(754-756)gtG>gtT	p.V252V	SLC28A1_ENST00000537216.1_Silent_p.V252V|SLC28A1_ENST00000538177.1_Silent_p.V252V|SLC28A1_ENST00000537624.1_Silent_p.V252V|SLC28A1_ENST00000394573.1_Silent_p.V252V|SLC28A1_ENST00000537703.1_Silent_p.V174V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	252					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CCAGCTTCGTGTTTGGGGAGG	0.547																																																0													80	78	79					15																	85451987		2203	4299	6502	SO:0001819	synonymous_variant	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.756G>T	15.37:g.85451987G>T			A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	CCDS10334.1																																																																																				0.547	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			T	85451987	G	T	85451987	2	4	124	1	0	0	0	0	0	0	0	1	14537	1364	48	4		4	SLC28A1	15	85451987	Silent	SNP	G	TCGA-B0-4691-01A-01D-1361-10	21519572	85451987	17079405	79	7559											
CHD2	1106	hgsc.bcm.edu;ucsc.edu	37	15	93567834	93567834	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr15:93567834C>A	ENST00000394196.4	+	39	6454	c.5386C>A	c.(5386-5388)Cct>Act	p.P1796T		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1796					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCAGAAATCTCCTCACGATTC	0.473																																																0													93	94	94					15																	93567834		1907	4118	6025	SO:0001583	missense	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5386C>A	15.37:g.93567834C>A	ENSP00000377747:p.Pro1796Thr		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868721	0.72065	.	.	ENSG00000173575	ENST00000394196	D	0.93019	-3.15	5.62	5.62	0.85841	.	.	.	.	.	D	0.94496	0.8228	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94024	0.7295	9	0.42905	T	0.14	-9.2437	20.0326	0.97545	0.0:1.0:0.0:0.0	.	1796	O14647	CHD2_HUMAN	T	1796	ENSP00000377747:P1796T	ENSP00000377747:P1796T	P	+	1	0	CHD2	91368838	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.017000	0.76399	2.805000	0.96524	0.609000	0.83330	CCT		0.473	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		A	93567834	C	A	93567834	3	1	124	1	0	0	0	0	1	0	0	0	3327	855	30	4	5540	4	CHD2	15	93567834	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	8115847	93567834	8963558	80	7560											
LRRK1	79705	hgsc.bcm.edu	37	15	101595284	101595284	+	Silent	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr15:101595284C>A	ENST00000388948.3	+	27	4547	c.4188C>A	c.(4186-4188)tcC>tcA	p.S1396S	LRRK1_ENST00000284395.5_Silent_p.S1393S|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGTGTGGTCCCTTGACGTCA	0.537																																																0													138	136	137					15																	101595284		2053	4190	6243	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4188C>A	15.37:g.101595284C>A				Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																				0.537	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101595284	C	A	101595284	2	1	124	1	0	0	0	0	0	0	0	1	9034	610	22	4		4	LRRK1	15	101595284	Silent	SNP	C	TCGA-B0-4691-01A-01D-1361-10	8027450	101595284	936108	81	7561											
PHKB	5257	hgsc.bcm.edu;ucsc.edu	37	16	47622841	47622841	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr16:47622841G>A	ENST00000323584.5	+	10	920	c.896G>A	c.(895-897)tGc>tAc	p.C299Y	PHKB_ENST00000299167.8_Missense_Mutation_p.C299Y|PHKB_ENST00000566044.1_Missense_Mutation_p.C292Y|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000455779.1_Missense_Mutation_p.C292Y	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	299					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CTGCTCCCCTGCATCAGTTAT	0.428																																																0													90	85	86					16																	47622841		2201	4300	6501	SO:0001583	missense	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.896G>A	16.37:g.47622841G>A	ENSP00000313504:p.Cys299Tyr		Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601315	0.66445	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.92752	-3.1;-3.1	5.58	5.58	0.84498	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.102879	0.64402	D	0.000001	D	0.92681	0.7674	L	0.51422	1.61	0.80722	D	1	P;P	0.52692	0.951;0.955	P;P	0.49477	0.612;0.566	D	0.93299	0.6675	10	0.87932	D	0	-7.2568	19.5889	0.95499	0.0:0.0:1.0:0.0	.	299;292	Q93100;Q93100-4	KPBB_HUMAN;.	Y	292;292;299	ENSP00000414345:C292Y;ENSP00000313504:C299Y	ENSP00000299167:C292Y	C	+	2	0	PHKB	46180342	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.322000	0.79097	2.628000	0.89032	0.585000	0.79938	TGC		0.428	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			A	47622841	G	A	47622841	3	1	124	1	0	0	0	0	1	0	0	0	11847	1319	46	2	993	2	PHKB	16	47622841	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10		47622841	42731912	82	7562											
SCARF1	8578	hgsc.bcm.edu	37	17	1538815	1538815	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr17:1538815G>A	ENST00000263071.4	-	11	1779	c.1730C>T	c.(1729-1731)cCg>cTg	p.P577L	SCARF1_ENST00000348987.3_Missense_Mutation_p.P491L|SCARF1_ENST00000571272.1_Missense_Mutation_p.R565C	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	577	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAGGTGCGCGGGATGGCGAA	0.677																																																0													53	55	54					17																	1538815		2203	4300	6503	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1730C>T	17.37:g.1538815G>A	ENSP00000263071:p.Pro577Leu		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.807736|4.807736	0.90623|0.90623	.|.	.|.	ENSG00000074660|ENSG00000074660	ENST00000263071;ENST00000348987|ENST00000434376	T;T|.	0.30448|.	1.53;1.53|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.000000|.	0.42964|.	D|.	0.000633|.	T|T	0.52565|0.52565	0.1742|0.1742	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.61080	1.0;1.0|0.989	D;D|B	0.97110|0.38921	1.0;0.999|0.285	T|T	0.60566|0.60566	-0.7238|-0.7238	9|7	0.33940|0.51188	T|T	0.23|0.08	-8.7985|-8.7985	18.7945|18.7945	0.91988|0.91988	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	491;577|565	Q14162-2;Q14162|Q14162-3	.;SREC_HUMAN|.	L|C	577;491|565	ENSP00000263071:P577L;ENSP00000323964:P491L|.	ENSP00000263071:P577L|ENSP00000411167:R565C	P|R	-|-	2|1	0|0	SCARF1|SCARF1	1485565|1485565	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.853000|0.853000	0.48598|0.48598	9.128000|9.128000	0.94424|0.94424	2.428000|2.428000	0.82296|0.82296	0.555000|0.555000	0.69702|0.69702	CCG|CGC		0.677	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		A	1538815	G	A	1538815	3	1	124	1	0	0	0	0	1	0	0	0	13889	1116	39	1	766	1	SCARF1	17	1538815	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10		1538815	79656395	83	7563											
PNMT	5409	hgsc.bcm.edu	37	17	37826360	37826360	+	Silent	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr17:37826360A>G	ENST00000269582.2	+	3	885	c.567A>G	c.(565-567)ccA>ccG	p.P189P	PNMT_ENST00000394246.1_Silent_p.P91P	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	189					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)	p.P189P(1)		NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGTGAGCCCAGATCTTGCCA	0.682																																																1	Substitution - coding silent(1)	ovary(1)											37	37	37					17																	37826360		2203	4300	6503	SO:0001819	synonymous_variant	5409				CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.567A>G	17.37:g.37826360A>G				Silent	SNP	ENST00000269582.2	37	CCDS11343.1																																																																																				0.682	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256923.2	NM_002686		G	37826360	A	G	37826360	2	3	124	1	0	0	0	0	0	0	0	1	12161	175	7	3		3	PNMT	17	37826360	Silent	SNP	A	TCGA-B0-4691-01A-01D-1361-10	36287545	37826360	43368850	84	7564											
TNS4	84951	hgsc.bcm.edu;ucsc.edu	37	17	38643651	38643651	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr17:38643651T>A	ENST00000254051.6	-	4	1083	c.925A>T	c.(925-927)Agt>Tgt	p.S309C		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	309	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TTGGCTGGACTTTCCAAGGAT	0.572																																																0													85	84	84					17																	38643651		2203	4300	6503	SO:0001583	missense	84951			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.925A>T	17.37:g.38643651T>A	ENSP00000254051:p.Ser309Cys		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953992	0.34471	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.47177	0.85	4.81	3.67	0.42095	.	1.477250	0.04002	N	0.296693	T	0.36580	0.0972	N	0.19112	0.55	0.27618	N	0.948427	B	0.22851	0.076	B	0.19148	0.024	T	0.20273	-1.0280	10	0.52906	T	0.07	-18.4874	8.932	0.35677	0.1776:0.0:0.0:0.8224	.	309	Q8IZW8	TENS4_HUMAN	C	309	ENSP00000254051:S309C	ENSP00000254051:S309C	S	-	1	0	TNS4	35897177	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.458000	0.45014	2.011000	0.59026	0.459000	0.35465	AGT		0.572	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		A	38643651	T	A	38643651	3	1	124	1	0	0	0	0	1	0	0	0	16350	1609	56	5	1262	5	TNS4	17	38643651	Missense_Mutation	SNP	T	TCGA-B0-4691-01A-01D-1361-10	817291	38643651	42551559	85	7565											
PSME3	10197	hgsc.bcm.edu	37	17	40990734	40990734	+	Intron	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr17:40990734G>A	ENST00000590720.1	+	7	638				PSME3_ENST00000592169.1_Intron|PSME3_ENST00000441946.2_Intron|PSME3_ENST00000541124.1_Intron|PSME3_ENST00000293362.3_Missense_Mutation_p.C144Y|PSME3_ENST00000545225.1_Intron			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)						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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|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 proteasomal protein catabolic process (GO:0061136)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCTCATATATGTTTTGACCTC	0.453																																																0													78	80	79					17																	40990734		2203	4300	6503	SO:0001627	intron_variant	10197			U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"Proteasome (prosome, macropain) subunits"	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.406-14G>A	17.37:g.40990734G>A			A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	ENST00000590720.1	37	CCDS45689.1	.	.	.	.	.	.	.	.	.	.	G	1.679	-0.506972	0.04231	.	.	ENSG00000131467	ENST00000293362	T	0.21543	2.0	3.61	-5.33	0.02713	.	2.817570	0.01234	N	0.008457	T	0.07188	0.0182	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33979	-0.9847	9	0.02654	T	1	-14.5112	6.311	0.21164	0.6499:0.0:0.205:0.1451	.	144	P61289-2	.	Y	144	ENSP00000293362:C144Y	ENSP00000293362:C144Y	C	+	2	0	PSME3	38244260	.	.	0.000000	0.03702	0.308000	0.27856	.	.	-1.209000	0.02631	-0.140000	0.14226	TGT		0.453	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452430.1	NM_176863		A	40990734	G	A	40990734	1	1	124	0	1	0	0	0	0	0	0	0	12713	1377	48	2		2	PSME3	17	40990734	Intron	SNP	G	TCGA-B0-4691-01A-01D-1361-10	2347083	40990734	40204476	86	7566											
TMUB2	79089	hgsc.bcm.edu	37	17	42265113	42265113	+	Splice_Site	SNP	T	T	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr17:42265113T>C	ENST00000587989.1	+	2	188		c.e2+2		TMUB2_ENST00000592825.1_Splice_Site|TMUB2_ENST00000587172.1_5'Flank|TMUB2_ENST00000590235.1_Intron|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000357984.3_Intron|TMUB2_ENST00000589184.1_Splice_Site|TMUB2_ENST00000446571.3_Splice_Site|TMUB2_ENST00000538716.2_Splice_Site|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000319511.6_Splice_Site|TMUB2_ENST00000589785.1_Intron|ASB16-AS1_ENST00000585457.1_RNA|TMUB2_ENST00000589856.1_Splice_Site			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		cctcatgaggtaggtactgtt	0.413																																																0													173	169	170					17																	42265113		1015	2126	3141	SO:0001630	splice_region_variant	79089				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.35+2T>C	17.37:g.42265113T>C			B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Splice_Site	SNP	ENST00000587989.1	37	CCDS54134.1																																																																																				0.413	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441	Intron	C	42265113	T	C	42265113	5	2	124	1	0	0	0	0	0	0	1	0	16270	1652	57	3	39	3	TMUB2	17	42265113	Splice_Site	SNP	T	TCGA-B0-4691-01A-01D-1361-10	1274379	42265113	38930097	87	7567											
MED13	9969	hgsc.bcm.edu	37	17	60023848	60023848	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr17:60023848A>T	ENST00000397786.2	-	30	6582	c.6506T>A	c.(6505-6507)tTt>tAt	p.F2169Y		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2169					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTCATAATAAAGTTATATAA	0.398																																																0													68	64	66					17																	60023848		1861	4098	5959	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6506T>A	17.37:g.60023848A>T	ENSP00000380888:p.Phe2169Tyr		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312622	0.40895	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74315	-0.83	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.76572	0.4006	N	0.22421	0.69	0.80722	D	1	D	0.57899	0.981	D	0.65010	0.931	T	0.79424	-0.1809	10	0.56958	D	0.05	-17.4997	14.6897	0.69076	1.0:0.0:0.0:0.0	.	2169	Q9UHV7	MED13_HUMAN	Y	2169;2168	ENSP00000380888:F2169Y	ENSP00000262436:F2168Y	F	-	2	0	MED13	57378630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.859000	0.92264	1.876000	0.54355	0.482000	0.46254	TTT		0.398	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		T	60023848	A	T	60023848	3	4	124	1	0	0	0	0	1	0	0	0	9432	14	1	5	22	5	MED13	17	60023848	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	17758735	60023848	21171362	88	7568											
HEXDC	284004	hgsc.bcm.edu	37	17	80391635	80391635	+	Silent	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr17:80391635C>A	ENST00000327949.9	+	4	395	c.384C>A	c.(382-384)gcC>gcA	p.A128A	HEXDC_ENST00000337014.6_Silent_p.A128A|HEXDC_ENST00000577944.1_Silent_p.A128A			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	128					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGGTGGGCGCCATGATTGACC	0.657																																																0													37	41	40					17																	80391635		1940	4134	6074	SO:0001819	synonymous_variant	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.384C>A	17.37:g.80391635C>A			B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37																																																																																					0.657	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		A	80391635	C	A	80391635	2	1	124	1	0	0	0	0	0	0	0	1	7077	581	21	4		4	HEXDC	17	80391635	Silent	SNP	C	TCGA-B0-4691-01A-01D-1361-10	20367787	80391635	803575	89	7569											
MYOM1	8736	hgsc.bcm.edu;ucsc.edu	37	18	3154964	3154964	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr18:3154964G>T	ENST00000356443.4	-	11	1957	c.1624C>A	c.(1624-1626)Ctc>Atc	p.L542I	MYOM1_ENST00000400569.3_Missense_Mutation_p.L542I|MYOM1_ENST00000261606.7_Missense_Mutation_p.L542I	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	542	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAATATCCGAGAATAGGACTC	0.433																																																0													63	62	62					18																	3154964		1889	4113	6002	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1624C>A	18.37:g.3154964G>T	ENSP00000348821:p.Leu542Ile		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415718	0.42817	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.58060	0.36;0.36;0.36	5.01	3.22	0.36961	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.347218	0.27735	N	0.018074	T	0.40932	0.1137	N	0.25286	0.73	0.30192	N	0.799388	P;P	0.46142	0.846;0.873	B;P	0.47941	0.426;0.562	T	0.31861	-0.9928	10	0.27785	T	0.31	.	7.6091	0.28120	0.1503:0.1364:0.7133:0.0	.	542;542	P52179-2;P52179	.;MYOM1_HUMAN	I	542	ENSP00000348821:L542I;ENSP00000383413:L542I;ENSP00000261606:L542I	ENSP00000261606:L542I	L	-	1	0	MYOM1	3144964	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	0.819000	0.27308	0.695000	0.31675	0.655000	0.94253	CTC		0.433	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		T	3154964	G	T	3154964	3	4	124	1	0	0	0	0	1	0	0	0	10093	942	33	4	3545	4	MYOM1	18	3154964	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10		3154964	74922284	90	7570											
SPIRE1	56907	hgsc.bcm.edu;ucsc.edu	37	18	12463349	12463349	+	Splice_Site	SNP	C	C	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr18:12463349C>G	ENST00000409402.4	-	12	1906		c.e12+1		SPIRE1_ENST00000383356.2_Splice_Site|SPIRE1_ENST00000410092.3_Splice_Site|SPIRE1_ENST00000453447.2_Splice_Site|SPIRE1_ENST00000464481.1_Splice_Site|SPIRE1_ENST00000309836.5_Splice_Site	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CCTGTACTTACAAGAGAGCGG	0.453																																																0													92	86	88					18																	12463349		2203	4300	6503	SO:0001630	splice_region_variant	56907			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"spire homolog 1 (Drosophila)", "spire family actin nucleation factor 1"			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1638+1G>C	18.37:g.12463349C>G				Splice_Site	SNP	ENST00000409402.4	37	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507304	0.85282	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.533	0.95237	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPIRE1	12453349	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	7.181000	0.77682	2.700000	0.92200	0.579000	0.79373	.		0.453	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818	Intron	G	12463349	C	G	12463349	5	3	124	1	0	0	0	0	0	0	1	0	15076	492	17	4	655	4	SPIRE1	18	12463349	Splice_Site	SNP	C	TCGA-B0-4691-01A-01D-1361-10	9308385	12463349	65613899	91	7571											
ASXL3	80816	hgsc.bcm.edu;ucsc.edu	37	18	31311982	31311982	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr18:31311982A>T	ENST00000269197.5	+	9	930	c.930A>T	c.(928-930)gaA>gaT	p.E310D		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TAAATAATGAATTCTTTGCAT	0.378																																																0													137	127	130					18																	31311982		1883	4100	5983	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.930A>T	18.37:g.31311982A>T	ENSP00000269197:p.Glu310Asp		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220031	0.79464	.	.	ENSG00000141431	ENST00000269197	T	0.42900	0.96	6.04	2.46	0.29980	.	0.341741	0.28700	N	0.014432	T	0.61123	0.2322	M	0.79011	2.435	0.36210	D	0.851326	D	0.89917	1.0	D	0.87578	0.998	T	0.68458	-0.5403	10	0.87932	D	0	.	9.2713	0.37673	0.6637:0.0:0.3363:0.0	.	310	Q9C0F0	ASXL3_HUMAN	D	310	ENSP00000269197:E310D	ENSP00000269197:E310D	E	+	3	2	ASXL3	29565980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.288000	0.33296	0.538000	0.28769	0.460000	0.39030	GAA		0.378	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			T	31311982	A	T	31311982	3	4	124	1	0	0	0	0	1	0	0	0	1068	98	4	5	964	5	ASXL3	18	31311982	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	18848633	31311982	46765266	92	7572											
NOL4	8715	hgsc.bcm.edu;ucsc.edu	37	18	31538245	31538245	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr18:31538245A>T	ENST00000261592.5	-	7	1491	c.1194T>A	c.(1192-1194)aaT>aaA	p.N398K	NOL4_ENST00000535475.1_Missense_Mutation_p.N243K|NOL4_ENST00000589544.1_Missense_Mutation_p.N398K|NOL4_ENST00000535384.1_Missense_Mutation_p.N113K|NOL4_ENST00000538587.1_Missense_Mutation_p.N324K|NOL4_ENST00000269185.4_Missense_Mutation_p.N284K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	398						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CGTCTGTCTCATTAACTTTCT	0.473																																																0													221	189	200					18																	31538245		2203	4300	6503	SO:0001583	missense	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1194T>A	18.37:g.31538245A>T	ENSP00000261592:p.Asn398Lys		B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772298	0.49680	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	T;T	0.79454	-1.27;-1.27	5.5	-2.03	0.07365	.	0.307374	0.31834	N	0.006987	T	0.80270	0.4592	L	0.43152	1.355	0.37806	D	0.927877	D;P;P;B;P;P;B;D	0.71674	0.99;0.763;0.592;0.277;0.634;0.592;0.241;0.998	P;B;B;B;B;B;B;D	0.80764	0.894;0.21;0.322;0.154;0.234;0.322;0.133;0.994	T	0.79235	-0.1887	10	0.56958	D	0.05	-9.8986	11.8411	0.52355	0.8071:0.0:0.1929:0.0	.	284;147;113;324;398;113;398;243	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	K	398;284;147;113;243;324	ENSP00000445733:N113K;ENSP00000443472:N324K	ENSP00000261592:N398K	N	-	3	2	NOL4	29792243	0.984000	0.35163	0.392000	0.26245	0.899000	0.52679	0.306000	0.19279	-0.296000	0.08947	-0.385000	0.06624	AAT		0.473	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		T	31538245	A	T	31538245	3	4	124	1	0	0	0	0	1	0	0	0	10526	214	8	5	742	5	NOL4	18	31538245	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	226263	31538245	46539003	93	7573											
MYO5B	4645	hgsc.bcm.edu;ucsc.edu	37	18	47518664	47518664	+	Silent	SNP	G	G	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr18:47518664G>C	ENST00000285039.7	-	6	1049	c.750C>G	c.(748-750)gtC>gtG	p.V250V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	250	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V250V(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCACCTGGAAGACCACTCTGG	0.502																																																1	Substitution - coding silent(1)	large_intestine(1)											206	196	199					18																	47518664		1952	4147	6099	SO:0001819	synonymous_variant	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.750C>G	18.37:g.47518664G>C			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																				0.502	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			C	47518664	G	C	47518664	2	2	124	1	0	0	0	0	0	0	0	1	10081	929	33	4		4	MYO5B	18	47518664	Silent	SNP	G	TCGA-B0-4691-01A-01D-1361-10	15980419	47518664	30558584	94	7574											
ANGPTL4	51129	hgsc.bcm.edu;ucsc.edu	37	19	8438683	8438683	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr19:8438683C>G	ENST00000301455.2	+	7	1305	c.1134C>G	c.(1132-1134)atC>atG	p.I378M	RAB11B-AS1_ENST00000593581.1_RNA|RAB11B-AS1_ENST00000597407.1_RNA|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.I340M|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.I211M|RAB11B-AS1_ENST00000597785.1_RNA	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	378	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						AGAAGGGAATCTTCTGGAAGA	0.627																																																0													93	104	100					19																	8438683		2203	4300	6503	SO:0001583	missense	51129			AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"Fibrinogen C domain containing"	16039	protein-coding gene	gene with protein product	"fasting-induced adipose factor", "hepatic angiopoietin-related protein", "PPARG angiopoietin related protein", "hepatic fibrinogen/angiopoietin-related protein", "peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "angiopoietin-related protein 4"	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.1134C>G	19.37:g.8438683C>G	ENSP00000301455:p.Ile378Met		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384878	0.61956	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.81078	-1.45;-1.45;-1.45	5.49	4.44	0.53790	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.055779	0.64402	D	0.000001	D	0.82838	0.5124	L	0.52126	1.63	0.47862	D	0.999531	P;P	0.51057	0.941;0.941	P;P	0.57204	0.815;0.815	T	0.83068	-0.0144	10	0.59425	D	0.04	.	10.0496	0.42208	0.1554:0.6948:0.1499:0.0	.	340;378	A8MY84;Q9BY76	.;ANGL4_HUMAN	M	378;340;211	ENSP00000301455:I378M;ENSP00000377534:I340M;ENSP00000439833:I211M	ENSP00000301455:I378M	I	+	3	3	ANGPTL4	8344683	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	1.208000	0.32345	1.273000	0.44346	0.563000	0.77884	ATC		0.627	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		G	8438683	C	G	8438683	3	3	124	1	0	0	0	0	1	0	0	0	616	903	32	4	1160	4	ANGPTL4	19	8438683	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10		8438683	50690300	95	7575											
DOCK6	57572	hgsc.bcm.edu;ucsc.edu	37	19	11314960	11314960	+	Silent	SNP	G	G	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr19:11314960G>A	ENST00000294618.7	-	40	5147	c.5136C>T	c.(5134-5136)ccC>ccT	p.P1712P	DOCK6_ENST00000319867.7_Silent_p.P1051P|DOCK6_ENST00000586702.1_5'Flank|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1712	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTTCCAGGATGGGGATGAGGT	0.607											OREG0025251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													47	49	48					19																	11314960		2005	4155	6160	SO:0001819	synonymous_variant	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5136C>T	19.37:g.11314960G>A		671	A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	CCDS45975.1																																																																																				0.607	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		A	11314960	G	A	11314960	2	1	124	1	0	0	0	0	0	0	0	1	4693	1335	47	2		2	DOCK6	19	11314960	Silent	SNP	G	TCGA-B0-4691-01A-01D-1361-10	2876277	11314960	47814023	96	7576											
SYCE2	256126	hgsc.bcm.edu	37	19	13011345	13011345	+	Silent	SNP	A	A	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr19:13011345A>G	ENST00000293695.7	-	4	442	c.424T>C	c.(424-426)Ttg>Ctg	p.L142L	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	142					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCTGTCTCCAAATGGCTGATC	0.473																																																0													110	97	101					19																	13011345		1886	4119	6005	SO:0001819	synonymous_variant	256126			AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"central element synaptonemal complex 1"	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.424T>C	19.37:g.13011345A>G			B4DYD3	Silent	SNP	ENST00000293695.7	37	CCDS42509.1																																																																																				0.473	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		G	13011345	A	G	13011345	2	3	124	1	0	0	0	0	0	0	0	1	15434	11	1	3		3	SYCE2	19	13011345	Silent	SNP	A	TCGA-B0-4691-01A-01D-1361-10	1696385	13011345	46117638	97	7577											
DNAJB1	3337	hgsc.bcm.edu	37	19	14627478	14627478	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr19:14627478G>C	ENST00000254322.2	-	2	662	c.592C>G	c.(592-594)Cga>Gga	p.R198G	DNAJB1_ENST00000396969.4_Missense_Mutation_p.R98G	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	198					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TCTTCGTTTCGAATGCTCTTT	0.483																																																0													177	168	171					19																	14627478		2203	4300	6503	SO:0001583	missense	3337			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.592C>G	19.37:g.14627478G>C	ENSP00000254322:p.Arg198Gly		B4DX52	Missense_Mutation	SNP	ENST00000254322.2	37	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	g	19.25	3.791174	0.70452	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	D;D	0.82167	-1.58;-1.58	5.01	5.01	0.66863	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.83692	2.655	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.83273	-0.0042	10	0.66056	D	0.02	.	15.793	0.78380	0.0:0.0:1.0:0.0	.	198	P25685	DNJB1_HUMAN	G	198;98	ENSP00000254322:R198G;ENSP00000444212:R98G	ENSP00000254322:R198G	R	-	1	2	DNAJB1	14488478	1.000000	0.71417	0.534000	0.28014	0.988000	0.76386	7.706000	0.84615	2.320000	0.78422	0.561000	0.74099	CGA		0.483	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		C	14627478	G	C	14627478	3	2	124	1	0	0	0	0	1	0	0	0	4617	1066	37	4	438	4	DNAJB1	19	14627478	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	1616133	14627478	44501505	98	7578											
TMEM38A	79041	hgsc.bcm.edu	37	19	16793274	16793274	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr19:16793274G>C	ENST00000187762.2	+	4	600	c.509G>C	c.(508-510)cGa>cCa	p.R170P		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	170						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CAGCTGCTCCGAGGGGTCTGG	0.572																																																0													141	117	125					19																	16793274		2203	4300	6503	SO:0001583	missense	79041			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.509G>C	19.37:g.16793274G>C	ENSP00000187762:p.Arg170Pro		A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	g	31	5.098558	0.94197	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83501	0.5268	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85005	0.0902	9	0.54805	T	0.06	-8.3019	18.1208	0.89571	0.0:0.0:1.0:0.0	.	170	Q9H6F2	TM38A_HUMAN	P	170	.	ENSP00000187762:R170P	R	+	2	0	TMEM38A	16654274	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.513000	0.98010	2.499000	0.84300	0.655000	0.94253	CGA		0.572	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		C	16793274	G	C	16793274	3	2	124	1	0	0	0	0	1	0	0	0	16164	1058	37	4	523	4	TMEM38A	19	16793274	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	2165796	16793274	42335709	99	7579											
PLAUR	5329	hgsc.bcm.edu	37	19	44153251	44153251	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr19:44153251A>T	ENST00000340093.3	-	7	1028	c.799T>A	c.(799-801)Tca>Aca	p.S267T	PLAUR_ENST00000601723.1_Missense_Mutation_p.S218T|PLAUR_ENST00000221264.4_Missense_Mutation_p.S222T|PLAUR_ENST00000339082.3_Intron	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	267	UPAR/Ly6 3.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGGCACATTGAGGCGGTTGCA	0.517																																																0													124	112	116					19																	44153251		2203	4300	6503	SO:0001583	missense	5329				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"CD molecules"	9053	protein-coding gene	gene with protein product	"urokinase-type plasminogen activator (uPA) receptor", "urokinase plasminogen activator surface receptor"	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.799T>A	19.37:g.44153251A>T	ENSP00000339328:p.Ser267Thr		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646855	0.67358	.	.	ENSG00000011422	ENST00000340093;ENST00000221264	T;T	0.71579	-0.58;-0.58	4.09	4.09	0.47781	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.470684	0.16080	N	0.230577	D	0.82825	0.5121	M	0.79805	2.47	0.33912	D	0.639816	D;D	0.76494	0.999;0.985	D;D	0.83275	0.996;0.97	D	0.86863	0.2031	10	0.72032	D	0.01	-17.2972	9.7306	0.40359	1.0:0.0:0.0:0.0	.	222;267	Q03405-3;Q03405	.;UPAR_HUMAN	T	267;222	ENSP00000339328:S267T;ENSP00000221264:S222T	ENSP00000221264:S222T	S	-	1	0	PLAUR	48845091	0.846000	0.29590	0.895000	0.35142	0.026000	0.11368	3.484000	0.53201	2.078000	0.62432	0.260000	0.18958	TCA		0.517	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		T	44153251	A	T	44153251	3	4	124	1	0	0	0	0	1	0	0	0	12025	304	11	5	308	5	PLAUR	19	44153251	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	27359977	44153251	14975732	100	7580											
SIGLEC12	89858	hgsc.bcm.edu;ucsc.edu	37	19	52001300	52001300	+	Silent	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr19:52001300C>A	ENST00000291707.3	-	5	1432	c.1377G>T	c.(1375-1377)ctG>ctT	p.L459L	SIGLEC12_ENST00000598614.1_Silent_p.L341L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	459	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGAGAGGCTCAGGGAAATGT	0.592																																																0													56	52	53					19																	52001300		2203	4300	6503	SO:0001819	synonymous_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1377G>T	19.37:g.52001300C>A			Q8IYH7	Silent	SNP	ENST00000291707.3	37	CCDS12833.1																																																																																				0.592	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		A	52001300	C	A	52001300	2	1	124	1	0	0	0	0	0	0	0	1	14314	813	29	4		4	SIGLEC12	19	52001300	Silent	SNP	C	TCGA-B0-4691-01A-01D-1361-10	7848049	52001300	7127683	101	7581											
LILRA1	11024	hgsc.bcm.edu	37	19	55106622	55106622	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr19:55106622G>T	ENST00000251372.3	+	5	598	c.416G>T	c.(415-417)gGg>gTg	p.G139V	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.G139V	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	139	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCTCAGGAGGGAACGTGACC	0.542																																																0													145	131	136					19																	55106622		2203	4300	6503	SO:0001583	missense	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.416G>T	19.37:g.55106622G>T	ENSP00000251372:p.Gly139Val		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	9.413	1.080981	0.20309	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00808	5.67;5.67	2.24	-0.287	0.12858	Immunoglobulin-like fold (1);	0.539850	0.16757	N	0.200777	T	0.01558	0.0050	M	0.70108	2.13	0.18873	N	0.999983	D;P	0.61697	0.99;0.558	P;B	0.46275	0.51;0.173	T	0.46498	-0.9187	10	0.54805	T	0.06	.	4.855	0.13555	0.3884:0.0:0.6116:0.0	.	139;139	O75019-2;O75019	.;LIRA1_HUMAN	V	139	ENSP00000251372:G139V;ENSP00000413715:G139V	ENSP00000251372:G139V	G	+	2	0	LILRA1	59798434	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	-0.109000	0.10840	-0.159000	0.11021	0.194000	0.17425	GGG		0.542	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		T	55106622	G	T	55106622	3	4	124	1	0	0	0	0	1	0	0	0	8786	1232	43	4	430	4	LILRA1	19	55106622	Missense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	3105322	55106622	4022361	102	7582											
ZNF544	27300	hgsc.bcm.edu	37	19	58772926	58772926	+	Missense_Mutation	SNP	A	A	C	rs199688490		TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr19:58772926A>C	ENST00000596652.1	+	6	1188	c.954A>C	c.(952-954)agA>agC	p.R318S	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.R176S|ZNF544_ENST00000600220.1_Missense_Mutation_p.R290S|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.R290S|ZNF544_ENST00000269829.4_Missense_Mutation_p.R318S|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.R290S|ZNF544_ENST00000599227.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAACAGAAAGAAGTGGCCCTG	0.478													A|||	1	0.000199681	0.0	0.0014	5008	,	,		20015	0.0		0.0	False		,,,				2504	0.0															0													64	60	61					19																	58772926		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.954A>C	19.37:g.58772926A>C	ENSP00000469635:p.Arg318Ser		A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	CCDS12973.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	11.71	1.718922	0.30503	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.18657	2.2;2.2	3.52	1.34	0.21922	.	.	.	.	.	T	0.20901	0.0503	M	0.63169	1.94	0.09310	N	0.999998	B;P;P	0.41784	0.035;0.642;0.762	B;B;B	0.40329	0.019;0.205;0.326	T	0.15378	-1.0439	9	0.72032	D	0.01	.	4.6825	0.12741	0.696:0.1938:0.1102:0.0	.	290;290;318	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	S	318;290	ENSP00000269829:R318S;ENSP00000394341:R290S	ENSP00000269829:R318S	R	+	3	2	ZNF544	63464738	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.423000	0.21313	0.095000	0.17434	0.533000	0.62120	AGA		0.478	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		C	58772926	A	C	58772926	3	2	124	1	0	0	0	0	1	0	0	0	17982	243	9	5	968	5	ZNF544	19	58772926	Missense_Mutation	SNP	A	TCGA-B0-4691-01A-01D-1361-10	3666304	58772926	356057	103	7583											
ZNFX1	57169	hgsc.bcm.edu;ucsc.edu	37	20	47874148	47874148	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr20:47874148C>G	ENST00000396105.1	-	8	2716	c.2470G>C	c.(2470-2472)Gag>Cag	p.E824Q	ZNFX1_ENST00000371752.1_Missense_Mutation_p.E824Q|ZNFX1_ENST00000371754.4_Missense_Mutation_p.E824Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	824							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTGCGATCTCTATCAGCGAA	0.532																																																0													123	103	110					20																	47874148		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2470G>C	20.37:g.47874148C>G	ENSP00000379412:p.Glu824Gln		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336972	0.60963	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87029	-1.96;-2.2;-2.2;-0.86;-1.57	5.87	4.9	0.64082	.	0.241583	0.44483	D	0.000459	D	0.85017	0.5601	L	0.50333	1.59	0.42796	D	0.993918	B	0.31459	0.324	B	0.38985	0.287	T	0.81422	-0.0940	10	0.27785	T	0.31	-11.1755	11.8114	0.52185	0.0:0.9099:0.0:0.0901	.	824	Q9P2E3	ZNFX1_HUMAN	Q	824;824;824;824;824;628	ENSP00000360819:E824Q;ENSP00000360817:E824Q;ENSP00000379412:E824Q;ENSP00000360809:E824Q;ENSP00000413800:E628Q	ENSP00000360809:E824Q	E	-	1	0	ZNFX1	47307555	0.995000	0.38212	0.985000	0.45067	0.537000	0.34900	3.402000	0.52608	1.394000	0.46624	0.655000	0.94253	GAG		0.532	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		G	47874148	C	G	47874148	3	3	124	1	0	0	0	0	1	0	0	0	18210	922	32	4	3314	4	ZNFX1	20	47874148	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10		47874148	15151372	104	7584											
SETD4	54093	hgsc.bcm.edu;ucsc.edu	37	21	37416207	37416207	+	Silent	SNP	C	C	T	rs372995455		TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chr21:37416207C>T	ENST00000399215.1	-	6	2146	c.774G>A	c.(772-774)acG>acA	p.T258T	SETD4_ENST00000399207.1_Silent_p.T258T|SETD4_ENST00000399212.1_Silent_p.T234T|SETD4_ENST00000399208.2_Silent_p.T258T|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Silent_p.T258T|SETD4_ENST00000399201.1_Silent_p.T234T|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399205.1_Silent_p.T234T			Q9NVD3	SETD4_HUMAN	SET domain containing 4	258	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						AACGTGAAGTCGTTCTAATTT	0.368																																																0								C	,	0,4406		0,0,2203	118	99	106		774,774	-11.2	0	21		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SETD4	NM_001007259.1,NM_017438.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	258/308,258/441	37416207	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54093			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.774G>A	21.37:g.37416207C>T			B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	37	CCDS13640.1																																																																																				0.368	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		T	37416207	C	T	37416207	2	4	124	1	0	0	0	0	0	0	0	1	14139	871	31	1		1	SETD4	21	37416207	Silent	SNP	C	TCGA-B0-4691-01A-01D-1361-10		37416207	10713688	105	7585											
ARSF	416	hgsc.bcm.edu	37	X	3007543	3007543	+	Silent	SNP	T	T	C			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chrX:3007543T>C	ENST00000381127.1	+	7	1058	c.837T>C	c.(835-837)agT>agC	p.S279S	ARSF_ENST00000537104.1_Silent_p.S279S|ARSF_ENST00000359361.2_Silent_p.S279S	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	279					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCAGGCACAGTAAGGAAACTT	0.438																																																0													251	190	210					X																	3007543		2203	4300	6503	SO:0001819	synonymous_variant	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.837T>C	X.37:g.3007543T>C			Q8TCC5	Silent	SNP	ENST00000381127.1	37	CCDS14123.1																																																																																				0.438	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			C	3007543	T	C	3007543	2	2	124	1	0	0	0	0	0	0	0	1	991	1635	57	3		3	ARSF	23	3007543	Silent	SNP	T	TCGA-B0-4691-01A-01D-1361-10		3007543	152263017	106	7586											
DIAPH2	1730	hgsc.bcm.edu	37	X	96212938	96212938	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chrX:96212938C>T	ENST00000324765.8	+	16	2073	c.1726C>T	c.(1726-1728)Cct>Tct	p.P576S	DIAPH2_ENST00000373061.3_Missense_Mutation_p.P576S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P572S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P576S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P576S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	576	FH1.|Poly-Pro.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGGAGGAGCTCCTCTTCCTCC	0.607																																																0													55	48	50					X																	96212938		2203	4300	6503	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1726C>T	X.37:g.96212938C>T	ENSP00000321348:p.Pro576Ser		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	5.808	0.333407	0.11013	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.41	-2.15	0.07102	.	26.510500	0.00465	N	0.000107	T	0.73171	0.3553	M	0.71296	2.17	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.37337	-0.9710	10	0.33940	T	0.23	.	2.9231	0.05776	0.0888:0.3561:0.2571:0.298	.	576;576	O60879;O60879-2	DIAP2_HUMAN;.	S	576;572;576;576;576;583	ENSP00000362152:P576S;ENSP00000362145:P572S;ENSP00000348082:P576S;ENSP00000362140:P576S;ENSP00000321348:P576S	ENSP00000321348:P576S	P	+	1	0	DIAPH2	96099594	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.237000	0.08990	-1.134000	0.02899	-2.423000	0.00217	CCT		0.607	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		T	96212938	C	T	96212938	3	4	124	1	0	0	0	0	1	0	0	0	4521	855	30	2	1788	2	DIAPH2	23	96212938	Missense_Mutation	SNP	C	TCGA-B0-4691-01A-01D-1361-10	93205395	96212938	59057622	107	7587											
TMEM164	84187	hgsc.bcm.edu	37	X	109247114	109247114	+	Silent	SNP	C	C	A			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chrX:109247114C>A	ENST00000372073.1	+	2	448	c.112C>A	c.(112-114)Cgg>Agg	p.R38R	TMEM164_ENST00000372068.2_Silent_p.R38R|TMEM164_ENST00000288381.4_Silent_p.R38R|TMEM164_ENST00000372072.3_Intron			Q5U3C3	TM164_HUMAN	transmembrane protein 164	38						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TTGGCAGCAGCGGCTGCTGGA	0.627																																																0													87	91	90					X																	109247114		2203	4300	6503	SO:0001819	synonymous_variant	84187			AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.112C>A	X.37:g.109247114C>A			B3KSQ8|F5H2P2	Silent	SNP	ENST00000372073.1	37	CCDS14550.2																																																																																				0.627	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		A	109247114	C	A	109247114	2	1	124	1	0	0	0	0	0	0	0	1	16084	759	27	4		4	TMEM164	23	109247114	Silent	SNP	C	TCGA-B0-4691-01A-01D-1361-10	13034176	109247114	46023446	108	7588											
BCORL1	63035	hgsc.bcm.edu	37	X	129148822	129148822	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4691-01A-01D-1361-10	TCGA-B0-4691-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	349d9df2-d3d8-46ba-b3d6-f34692b1f9fd	dd70d55f-aea5-4de6-89bf-e4e6cd32f2f3	g.chrX:129148822G>T	ENST00000218147.7	+	4	2271	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*	BCORL1_ENST00000540052.1_Nonsense_Mutation_p.E692*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.E692*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.E692*			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	692					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E692K(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CATCTTTCCCGAGATCGTGAG	0.602																																																1	Substitution - Missense(1)	ovary(1)											70	58	62					X																	129148822		2203	4300	6503	SO:0001587	stop_gained	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2074G>T	X.37:g.129148822G>T	ENSP00000218147:p.Glu692*		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Nonsense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.957789|3.957789	0.73902|0.73902	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.37178|.	N|.	0.002211|.	.|T	.|0.74351	.|0.3705	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73953	.|-0.3820	.|3	0.26408|.	T|.	0.33|.	-9.2769|-9.2769	18.0781|18.0781	0.89433|0.89433	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	692;692;692;692;292|127	.|.	ENSP00000218147:E692X|.	E|R	+|+	1|2	0|0	BCORL1|BCORL1	128976503|128976503	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.333000|0.333000	0.28666|0.28666	4.592000|4.592000	0.61027|0.61027	2.205000|2.205000	0.71048|0.71048	0.436000|0.436000	0.28706|0.28706	GAG|CGA		0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		T	129148822	G	T	129148822	4	4	124	1	0	0	0	0	0	1	0	0	1387	1059	37	4	2084	4	BCORL1	23	129148822	Nonsense_Mutation	SNP	G	TCGA-B0-4691-01A-01D-1361-10	19901708	129148822	26121738	109	7589											
AURKAIP1	54998	hgsc.bcm.edu	37	1	1309259	1309259	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr1:1309259C>A	ENST00000338370.3	-	3	922	c.522G>T	c.(520-522)agG>agT	p.R174S	AURKAIP1_ENST00000321751.5_Missense_Mutation_p.R174S|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.R174S|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.R174S|AURKAIP1_ENST00000489799.1_5'Flank			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	174					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCAGATGCGCCTCAGGTCTT	0.602																																																0													56	61	59					1																	1309259		2203	4296	6499	SO:0001583	missense	54998				CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.522G>T	1.37:g.1309259C>A	ENSP00000342676:p.Arg174Ser		Q5TA36|Q8TBD3	Missense_Mutation	SNP	ENST00000338370.3	37	CCDS25.1	.	.	.	.	.	.	.	.	.	.	c	16.09	3.023137	0.54683	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.53	4.53	0.55603	.	0.534602	0.19548	N	0.111633	T	0.39145	0.1067	L	0.51422	1.61	0.37968	D	0.933205	B	0.25105	0.118	B	0.19666	0.026	T	0.42766	-0.9432	10	0.49607	T	0.09	-7.1833	14.7984	0.69894	0.0:1.0:0.0:0.0	.	174	Q9NWT8	AKIP_HUMAN	S	174	ENSP00000340656:R174S;ENSP00000342676:R174S;ENSP00000319778:R174S;ENSP00000368130:R174S	ENSP00000319778:R174S	R	-	3	2	AURKAIP1	1299122	0.915000	0.31059	0.997000	0.53966	0.779000	0.44077	1.248000	0.32827	2.216000	0.71823	0.655000	0.94253	AGG		0.602	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		A	1309259	C	A	1309259	3	1	125	1	0	0	0	0	1	0	0	0	1222	738	26	4	81	4	AURKAIP1	1	1309259	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10		1309259	247941362	1	7590											
SPSB1	80176	hgsc.bcm.edu;ucsc.edu	37	1	9416577	9416577	+	Silent	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr1:9416577G>A	ENST00000328089.6	+	2	968	c.627G>A	c.(625-627)ctG>ctA	p.L209L	SPSB1_ENST00000357898.3_Silent_p.L209L|SPSB1_ENST00000377399.2_Silent_p.L209L	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	209	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GCAAAAAACTGTATCCTGTAG	0.547																																																0													128	126	127					1																	9416577		2203	4300	6503	SO:0001819	synonymous_variant	80176				CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.627G>A	1.37:g.9416577G>A			A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Silent	SNP	ENST00000328089.6	37	CCDS102.1																																																																																				0.547	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		A	9416577	G	A	9416577	2	1	125	1	0	0	0	0	0	0	0	1	15117	1364	48	2		2	SPSB1	1	9416577	Silent	SNP	G	TCGA-B0-4693-01A-01D-1361-10	8107318	9416577	239834044	2	7591											
GJB4	127534	hgsc.bcm.edu;ucsc.edu	37	1	35226981	35226981	+	Silent	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr1:35226981G>A	ENST00000339480.1	+	2	496	c.126G>A	c.(124-126)gaG>gaA	p.E42E	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	42					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CAGCGGAGGAGGTGTGGGACG	0.592																																																0													255	171	200					1																	35226981		2203	4300	6503	SO:0001819	synonymous_variant	127534				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.126G>A	1.37:g.35226981G>A			B3KQ82	Silent	SNP	ENST00000339480.1	37	CCDS383.1																																																																																				0.592	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		A	35226981	G	A	35226981	2	1	125	1	0	0	0	0	0	0	0	1	6412	991	35	2		2	GJB4	1	35226981	Silent	SNP	G	TCGA-B0-4693-01A-01D-1361-10	25810404	35226981	214023640	3	7592											
MAP7D1	55700	hgsc.bcm.edu	37	1	36644627	36644627	+	Splice_Site	SNP	G	G	A	rs111254290		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr1:36644627G>A	ENST00000373151.2	+	12	2346		c.e12+1		MAP7D1_ENST00000373148.4_Splice_Site|MAP7D1_ENST00000316156.4_Splice_Site|MAP7D1_ENST00000373150.4_Splice_Site	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1						microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCGCAGAAAGGTGTGCGGACC	0.706																																																0													21	22	22					1																	36644627		2118	4183	6301	SO:0001630	splice_region_variant	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.2130+1G>A	1.37:g.36644627G>A			D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Splice_Site	SNP	ENST00000373151.2	37	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333841	0.24253	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373153;ENST00000373148	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9957	0.86367	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP7D1	36417214	1.000000	0.71417	0.993000	0.49108	0.036000	0.12997	7.457000	0.80775	2.434000	0.82447	0.514000	0.50259	.		0.706	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067	Intron	A	36644627	G	A	36644627	5	1	125	1	0	0	0	0	0	0	1	0	9269	1275	44	2	2177	2	MAP7D1	1	36644627	Splice_Site	SNP	G	TCGA-B0-4693-01A-01D-1361-10	1417646	36644627	212605994	4	7593											
CTTNBP2NL	55917	hgsc.bcm.edu;ucsc.edu	37	1	112997122	112997122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr1:112997122G>T	ENST00000271277.6	+	5	607	c.382G>T	c.(382-384)Gaa>Taa	p.E128*		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	128					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATACGGCTGAAGGAGATGA	0.418																																																0													131	123	125					1																	112997122		2203	4300	6503	SO:0001587	stop_gained	55917			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.382G>T	1.37:g.112997122G>T	ENSP00000271277:p.Glu128*		B3KMS5|Q96B40	Nonsense_Mutation	SNP	ENST00000271277.6	37	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	38	6.747334	0.97809	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	.	.	.	6.04	6.04	0.98038	.	0.197108	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-21.7777	20.1899	0.98228	0.0:0.0:1.0:0.0	.	.	.	.	X	128	.	ENSP00000271277:E128X	E	+	1	0	CTTNBP2NL	112798645	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	7.457000	0.80775	2.873000	0.98535	0.563000	0.77884	GAA		0.418	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		T	112997122	G	T	112997122	4	4	125	1	0	0	0	0	0	1	0	0	4048	1291	45	4	392	4	CTTNBP2NL	1	112997122	Nonsense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	76352495	112997122	136253499	5	7594											
CRNN	49860	hgsc.bcm.edu	37	1	152384629	152384629	+	Silent	SNP	C	C	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr1:152384629C>T	ENST00000271835.3	-	2	143	c.81G>A	c.(79-81)gcG>gcA	p.A27A	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	27			A -> V (in dbSNP:rs35639220).		response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCGGGTGAGCGCTGTGCAGT	0.537																																																0													147	128	134					1																	152384629		2203	4300	6503	SO:0001819	synonymous_variant	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.81G>A	1.37:g.152384629C>T			B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	CCDS1010.1																																																																																				0.537	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		T	152384629	C	T	152384629	2	4	125	1	0	0	0	0	0	0	0	1	3894	755	27	1		1	CRNN	1	152384629	Silent	SNP	C	TCGA-B0-4693-01A-01D-1361-10	39387507	152384629	96865992	6	7595											
ZBTB37	84614	hgsc.bcm.edu;ucsc.edu	37	1	173854955	173854955	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr1:173854955T>A	ENST00000367701.5	+	4	1396	c.1205T>A	c.(1204-1206)gTc>gAc	p.V402D	ZBTB37_ENST00000427304.1_Missense_Mutation_p.V402D|ZBTB37_ENST00000367704.1_3'UTR			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						ACACCATTCGTCTGCCGCATG	0.527																																																0													134	112	118					1																	173854955		692	1591	2283	SO:0001583	missense	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.1205T>A	1.37:g.173854955T>A	ENSP00000356674:p.Val402Asp		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518503	0.64634	.	.	ENSG00000185278	ENST00000427304;ENST00000367703;ENST00000367701	T;T	0.18338	2.22;2.22	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053333	0.85682	D	0.000000	T	0.20292	0.0488	L	0.43701	1.375	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.04991	-1.0913	10	0.12766	T	0.61	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	402	Q5TC79	ZBT37_HUMAN	D	402;310;402	ENSP00000415293:V402D;ENSP00000356674:V402D	ENSP00000356674:V402D	V	+	2	0	ZBTB37	172121578	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	6.264000	0.72527	2.194000	0.70268	0.533000	0.62120	GTC		0.527	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		A	173854955	T	A	173854955	3	1	125	1	0	0	0	0	1	0	0	0	17543	1667	58	5	1278	5	ZBTB37	1	173854955	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	21470326	173854955	75395666	7	7596											
PLA2G4A	5321	hgsc.bcm.edu	37	1	186916003	186916003	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr1:186916003G>T	ENST00000367466.3	+	12	1326	c.1174G>T	c.(1174-1176)Gtc>Ttc	p.V392F	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V332F	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	392	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TATTTTAGGTGTCTGGGGCAG	0.358																																																0													141	137	138					1																	186916003		2203	4300	6503	SO:0001583	missense	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1174G>T	1.37:g.186916003G>T	ENSP00000356436:p.Val392Phe		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751497	0.89753	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.08102	3.13;3.13	5.71	5.71	0.89125	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.105450	0.64402	D	0.000004	T	0.32585	0.0834	M	0.79258	2.445	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76071	0.987;0.985	T	0.01608	-1.1313	10	0.72032	D	0.01	-17.1201	18.8397	0.92177	0.0:0.0:1.0:0.0	.	332;392	E7EU42;P47712	.;PA24A_HUMAN	F	392;332	ENSP00000356436:V392F;ENSP00000406892:V332F	ENSP00000356436:V392F	V	+	1	0	PLA2G4A	185182626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.485000	0.97942	2.685000	0.91497	0.585000	0.79938	GTC		0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		T	186916003	G	T	186916003	3	4	125	1	0	0	0	0	1	0	0	0	12003	1377	48	4	1216	4	PLA2G4A	1	186916003	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	13061048	186916003	62334618	8	7597											
TFB2M	64216	hgsc.bcm.edu	37	1	246720752	246720752	+	Missense_Mutation	SNP	T	T	G	rs200551751		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr1:246720752T>G	ENST00000366514.4	-	3	672	c.487A>C	c.(487-489)Aaa>Caa	p.K163Q	TFB2M_ENST00000544618.1_Intron	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	163					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			GCAGGTGGTTTTATTACTCCA	0.393																																																0													98	99	99					1																	246720752		2203	4300	6503	SO:0001583	missense	64216			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.487A>C	1.37:g.246720752T>G	ENSP00000355471:p.Lys163Gln		Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	CCDS1627.1	32	0.014652014652014652	3	0.006097560975609756	0	0.0	4	0.006993006993006993	25	0.032981530343007916	T	15.92	2.973832	0.53720	.	.	ENSG00000162851	ENST00000366514	T	0.34275	1.37	5.59	3.12	0.35913	.	0.379197	0.28630	N	0.014662	T	0.13798	0.0334	L	0.51422	1.61	0.09310	N	0.999998	P	0.41498	0.752	B	0.41764	0.366	T	0.03240	-1.1057	10	0.35671	T	0.21	-3.8644	11.9276	0.52829	0.0:0.0:0.418:0.582	.	163	Q9H5Q4	TFB2M_HUMAN	Q	163	ENSP00000355471:K163Q	ENSP00000355471:K163Q	K	-	1	0	TFB2M	244787375	0.004000	0.15560	0.001000	0.08648	0.011000	0.07611	1.143000	0.31553	0.903000	0.36546	0.455000	0.32223	AAA		0.393	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		G	246720752	T	G	246720752	3	3	125	1	0	0	0	0	1	0	0	0	15799	1850	64	5	727	5	TFB2M	1	246720752	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	59804749	246720752	2529869	9	7598											
PREB	10113	hgsc.bcm.edu;ucsc.edu	37	2	27355147	27355147	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr2:27355147G>T	ENST00000260643.2	-	6	1130	c.877C>A	c.(877-879)Ctt>Att	p.L293I	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	293					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGTCCGAAGGGGCAAGAAG	0.612																																																0													82	90	87					2																	27355147		2203	4300	6503	SO:0001583	missense	10113				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"WD repeat domain containing"	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.877C>A	2.37:g.27355147G>T	ENSP00000260643:p.Leu293Ile		Q53SZ8|Q9UH94	Missense_Mutation	SNP	ENST00000260643.2	37	CCDS1738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.19|17.19	3.326937|3.326937	0.60743|0.60743	.|.	.|.	ENSG00000138073|ENSG00000138073	ENST00000260643;ENST00000546336|ENST00000456259;ENST00000430533	T|T;T	0.32515|0.32272	1.45|1.47;1.46	6.08|6.08	5.18|5.18	0.71444|0.71444	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);|.	0.119632|.	0.64402|.	D|.	0.000017|.	T|T	0.39784|0.39784	0.1091|0.1091	L|L	0.41027|0.41027	1.25|1.25	0.51482|0.51482	D|D	0.999926|0.999926	D|.	0.54397|.	0.966|.	P|.	0.46144|.	0.505|.	T|T	0.25012|0.25012	-1.0144|-1.0144	10|7	0.19147|0.66056	T|D	0.46|0.02	-8.008|-8.008	15.0751|15.0751	0.72071|0.72071	0.0:0.1425:0.8575:0.0|0.0:0.1425:0.8575:0.0	.|.	293|.	Q9HCU5|.	PREB_HUMAN|.	I|H	293|36;48	ENSP00000260643:L293I|ENSP00000397036:P36H;ENSP00000407036:P48H	ENSP00000260643:L293I|ENSP00000407036:P48H	L|P	-|-	1|2	0|0	PREB|PREB	27208651|27208651	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.994000|0.994000	0.84299|0.84299	3.716000|3.716000	0.54904|0.54904	1.537000|1.537000	0.49254|0.49254	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.612	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		T	27355147	G	T	27355147	3	4	125	1	0	0	0	0	1	0	0	0	12475	1000	35	4	392	4	PREB	2	27355147	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10		27355147	215844226	10	7599											
NEB	4703	hgsc.bcm.edu	37	2	152554080	152554080	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr2:152554080A>G	ENST00000172853.10	-	14	1382	c.1235T>C	c.(1234-1236)gTt>gCt	p.V412A	NEB_ENST00000397345.3_Missense_Mutation_p.V412A|NEB_ENST00000604864.1_Missense_Mutation_p.V412A|NEB_ENST00000427231.2_Missense_Mutation_p.V412A|NEB_ENST00000603639.1_Missense_Mutation_p.V412A|NEB_ENST00000409198.1_Missense_Mutation_p.V412A			P20929	NEBU_HUMAN	nebulin	412					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTCTGCAGAACAGTATCGAG	0.328																																																0													140	134	136					2																	152554080		1826	4082	5908	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1235T>C	2.37:g.152554080A>G	ENSP00000172853:p.Val412Ala		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	A	10.46	1.357261	0.24598	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.05025	3.51;3.53;3.53;3.51	5.97	5.97	0.96955	.	0.201042	0.42682	D	0.000674	T	0.05090	0.0136	N	0.22421	0.69	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.47045	-0.9147	10	0.21014	T	0.42	.	11.0372	0.47808	0.9229:0.0:0.0771:0.0	.	412	P20929	NEBU_HUMAN	A	412;412;412;412;138	ENSP00000386259:V412A;ENSP00000380505:V412A;ENSP00000416578:V412A;ENSP00000172853:V412A	ENSP00000172853:V412A	V	-	2	0	NEB	152262326	0.276000	0.24211	0.710000	0.30468	0.932000	0.56968	2.014000	0.40951	2.288000	0.76882	0.533000	0.62120	GTT		0.328	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		G	152554080	A	G	152554080	3	3	125	1	0	0	0	0	1	0	0	0	10304	43	2	3	25127	3	NEB	2	152554080	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10	125198933	152554080	90645293	11	7600											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179401198	179401198	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr2:179401198T>A	ENST00000591111.1	-	307	95577	c.95353A>T	c.(95353-95355)Aat>Tat	p.N31785Y	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N24486Y|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N24361Y|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N30858Y|TTN_ENST00000589042.1_Missense_Mutation_p.N33426Y|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N24553Y|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31785	Fibronectin type-III 131. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTAGTAATTTCTAATCTTT	0.423																																																0													82	79	80					2																	179401198		1866	4107	5973	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95353A>T	2.37:g.179401198T>A	ENSP00000465570:p.Asn31785Tyr		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	15.76	2.930020	0.52759	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60090	0.2242	L	0.55213	1.73	0.37775	D	0.926811	P;P;P;P	0.42203	0.773;0.773;0.773;0.773	P;P;P;P	0.48524	0.58;0.58;0.58;0.58	T	0.67581	-0.5634	9	0.87932	D	0	.	16.0677	0.80897	0.0:0.0:0.0:1.0	.	24361;24486;24553;31785	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	30858;24361;24553;24486;24358	ENSP00000343764:N30858Y;ENSP00000434586:N24361Y;ENSP00000340554:N24553Y;ENSP00000352154:N24486Y	ENSP00000340554:N24553Y	N	-	1	0	TTN	179109444	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.120000	0.64685	2.185000	0.69588	0.460000	0.39030	AAT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179401198	T	A	179401198	3	1	125	1	0	0	0	0	1	0	0	0	16740	1841	64	5	7727	5	TTN	2	179401198	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	26847118	179401198	63798175	12	7601											
DNAJC10	54431	hgsc.bcm.edu;ucsc.edu	37	2	183640093	183640093	+	Silent	SNP	T	T	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr2:183640093T>C	ENST00000264065.7	+	23	2731	c.2316T>C	c.(2314-2316)gcT>gcC	p.A772A		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	772	Thioredoxin 4. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGCAATCGCTGCCTTAATAA	0.323																																					Pancreas(56;860 1183 25669 35822 48585)											0													43	43	43					2																	183640093		2202	4300	6502	SO:0001819	synonymous_variant	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.2316T>C	2.37:g.183640093T>C			Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	CCDS33345.1																																																																																				0.323	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		C	183640093	T	C	183640093	2	2	125	1	0	0	0	0	0	0	0	1	4631	1567	55	3		3	DNAJC10	2	183640093	Silent	SNP	T	TCGA-B0-4693-01A-01D-1361-10	4238895	183640093	59559280	13	7602											
SATB2	23314	hgsc.bcm.edu	37	2	200193590	200193590	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr2:200193590G>C	ENST00000417098.1	-	8	2033	c.1217C>G	c.(1216-1218)aCa>aGa	p.T406R	SATB2_ENST00000457245.1_Missense_Mutation_p.T406R|SATB2_ENST00000443023.1_Missense_Mutation_p.T347R|SATB2_ENST00000260926.5_Missense_Mutation_p.T406R|SATB2_ENST00000428695.1_Missense_Mutation_p.T288R|RP11-486F17.1_ENST00000489557.2_RNA	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	406					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGAGAGGCTGTCCGAGGGTC	0.488																																					Colon(30;262 767 11040 24421 36230)											0													83	79	81					2																	200193590		2203	4300	6503	SO:0001583	missense	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1217C>G	2.37:g.200193590G>C	ENSP00000401112:p.Thr406Arg		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003438	0.74932	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.46819	0.86;0.87;0.86;0.86;0.86	4.98	4.98	0.66077	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.056311	0.64402	D	0.000001	T	0.60261	0.2255	L	0.36672	1.1	0.47476	D	0.999439	B;D	0.63880	0.288;0.993	B;D	0.68483	0.1;0.958	T	0.61446	-0.7061	10	0.59425	D	0.04	-10.673	18.8143	0.92071	0.0:0.0:1.0:0.0	.	288;406	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	R	406;347;406;288;406	ENSP00000401112:T406R;ENSP00000388764:T347R;ENSP00000260926:T406R;ENSP00000388581:T288R;ENSP00000405420:T406R	ENSP00000260926:T406R	T	-	2	0	SATB2	199901835	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.501000	0.66950	2.747000	0.94245	0.650000	0.86243	ACA		0.488	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		C	200193590	G	C	200193590	3	2	125	1	0	0	0	0	1	0	0	0	13860	1377	48	4	1000	4	SATB2	2	200193590	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	16553497	200193590	43005783	14	7603											
PAX3	5077	hgsc.bcm.edu;ucsc.edu	37	2	223066781	223066781	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr2:223066781G>C	ENST00000350526.4	-	8	1438	c.1302C>G	c.(1300-1302)gaC>gaG	p.D434E	PAX3_ENST00000344493.4_Intron|PAX3_ENST00000392069.2_Missense_Mutation_p.D434E|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Missense_Mutation_p.D434E|PAX3_ENST00000409551.3_Missense_Mutation_p.D433E|PAX3_ENST00000336840.6_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	434					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTTCATATGGTCTAGTCTCT	0.567			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													126	111	116					2																	223066781		2203	4300	6503	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1302C>G	2.37:g.223066781G>C	ENSP00000343052:p.Asp434Glu		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379847	0.24944	.	.	ENSG00000135903	ENST00000392069;ENST00000350526;ENST00000392070;ENST00000409551;ENST00000464706	D;D;D;D	0.93906	-3.31;-3.29;-3.29;-3.3	5.81	-0.255	0.12988	.	0.490245	0.22393	N	0.060660	T	0.74816	0.3766	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.09377	0.003;0.001;0.004	T	0.56968	-0.7891	10	0.14656	T	0.56	.	0.9679	0.01410	0.2653:0.3461:0.1696:0.219	.	434;433;434	P23760;Q494Z4;G5E9C1	PAX3_HUMAN;.;.	E	434;434;434;433;151	ENSP00000375921:D434E;ENSP00000343052:D434E;ENSP00000375922:D434E;ENSP00000386750:D433E	ENSP00000343052:D434E	D	-	3	2	PAX3	222775025	0.082000	0.21442	0.985000	0.45067	0.889000	0.51656	-0.517000	0.06275	-0.116000	0.11893	-0.140000	0.14226	GAC		0.567	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			C	223066781	G	C	223066781	3	2	125	1	0	0	0	0	1	0	0	0	11482	1252	44	4	255	4	PAX3	2	223066781	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	22873191	223066781	20132592	15	7604											
SLC16A14	151473	hgsc.bcm.edu;ucsc.edu	37	2	230914571	230914571	+	Silent	SNP	C	C	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr2:230914571C>G	ENST00000295190.4	-	3	767	c.309G>C	c.(307-309)gcG>gcC	p.A103A		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CTCCAATGATCGCAGTCTGGC	0.498																																																0													75	73	74					2																	230914571		2203	4300	6503	SO:0001819	synonymous_variant	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.309G>C	2.37:g.230914571C>G			A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	37	CCDS2473.1																																																																																				0.498	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		G	230914571	C	G	230914571	2	3	125	1	0	0	0	0	0	0	0	1	14413	871	31	4		4	SLC16A14	2	230914571	Silent	SNP	C	TCGA-B0-4693-01A-01D-1361-10	7847790	230914571	12284802	16	7605											
C3orf10	55845	hgsc.bcm.edu;ucsc.edu	37	3	10167959	10167959	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr3:10167959A>C	ENST00000530758.1	+	3	318	c.208A>C	c.(208-210)Aaa>Caa	p.K70Q	BRK1_ENST00000256463.6_Missense_Mutation_p.K70Q	NM_018462.4	NP_060932.2	Q8WUW1	BRK1_HUMAN	BRICK1, SCAR/WAVE actin-nucleating complex subunit	70					actin cytoskeleton organization (GO:0030036)|cell motility (GO:0048870)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|protein homotrimerization (GO:0070207)|Rac protein signal transduction (GO:0016601)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(1)|skin(1)	2						ACAGGTGACAAAAGGTGAGAC	0.438																																																0													41	37	38					3																	10167959		1882	4108	5990	SO:0001583	missense	0			AF161418	CCDS54553.1	3p25.3	2011-06-07	2011-06-07	2011-06-07	ENSG00000254999	ENSG00000254999			23057	protein-coding gene	gene with protein product	"haematopoietic stem/progenitor cell protein 300", "BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog (Arabidopsis thaliana)"	611183	"chromosome 3 open reading frame 10"	C3orf10		14695531	Standard	NM_018462		Approved	MDS027, HSPC300	uc003bvb.3	Q8WUW1	OTTHUMG00000155400	ENST00000530758.1:c.208A>C	3.37:g.10167959A>C	ENSP00000432472:p.Lys70Gln		B2R5E2|Q9P082	Missense_Mutation	SNP	ENST00000530758.1	37	CCDS54553.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808023	0.50421	.	.	ENSG00000254999	ENST00000530758;ENST00000256463	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	.	.	.	0.38394	D	0.945497	B	0.18610	0.029	B	0.14578	0.011	T	0.52548	-0.8561	8	0.39692	T	0.17	.	13.8402	0.63435	1.0:0.0:0.0:0.0	.	70	Q8WUW1	BRK1_HUMAN	Q	70	.	ENSP00000444659:K70Q	K	+	1	0	BRK1	10142959	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.367000	0.66127	2.157000	0.67596	0.524000	0.50904	AAA		0.438	BRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339900.2	NM_018462		C	10167959	A	C	10167959	3	2	125	1	0	0	0	0	1	0	0	0	2209	15	1	5	218	5	C3orf10	3	10167959	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10		10167959	187854471	17	7606											
MLH1	4292	hgsc.bcm.edu;ucsc.edu	37	3	37067407	37067407	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr3:37067407G>A	ENST00000231790.2	+	12	1534	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	MLH1_ENST00000435176.1_Missense_Mutation_p.V342M|MLH1_ENST00000536378.1_Missense_Mutation_p.V199M|MLH1_ENST00000455445.2_Missense_Mutation_p.V199M|MLH1_ENST00000539477.1_Missense_Mutation_p.V199M|MLH1_ENST00000458205.2_Missense_Mutation_p.V199M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	440	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CCCTGCTGAAGTGGCTGCCAA	0.522		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	1	Whole gene deletion(1)	ovary(1)											76	85	82					3																	37067407		2203	4300	6503	SO:0001583	missense	4292	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	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1318G>A	3.37:g.37067407G>A	ENSP00000231790:p.Val440Met		B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	8.422	0.846606	0.16963	.	.	ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	4.98	-0.949	0.10376	.	1.701300	0.02783	N	0.121168	T	0.78033	0.4220	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.32203	0.36;0.014;0.001;0.129;0.004;0.002	B;B;B;B;B;B	0.29077	0.098;0.005;0.002;0.098;0.003;0.003	T	0.67300	-0.5705	10	0.33940	T	0.23	0.0539	9.8563	0.41088	0.5789:0.0:0.4211:0.0	.	342;342;199;199;440;440	E9PCU2;B4DQ11;B7Z821;B4DI13;Q53GX1;P40692	.;.;.;.;.;MLH1_HUMAN	M	440;304;199;199;199;342;199	ENSP00000231790:V440M;ENSP00000402667:V199M;ENSP00000443665:V199M;ENSP00000398272:V199M;ENSP00000402564:V342M;ENSP00000444286:V199M	ENSP00000231790:V440M	V	+	1	0	MLH1	37042411	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.163000	0.16520	-0.310000	0.08766	-1.686000	0.00732	GTG		0.522	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		A	37067407	G	A	37067407	3	1	125	1	0	0	0	0	1	0	0	0	9619	1029	36	2	1364	2	MLH1	3	37067407	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	26899448	37067407	160955023	18	7607											
RBM6	10180	hgsc.bcm.edu;ucsc.edu	37	3	50006037	50006037	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr3:50006037T>A	ENST00000266022.4	+	3	1438	c.1179T>A	c.(1177-1179)ttT>ttA	p.F393L	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.F261L|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	393					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GTCTGGACTTTCTTGGGCGGC	0.498																																																0													81	84	83					3																	50006037		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1179T>A	3.37:g.50006037T>A	ENSP00000266022:p.Phe393Leu		O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.037126	0.54896	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.31769	1.48;1.51	5.85	-0.583	0.11706	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.02519	-1.1147	9	.	.	.	-11.3921	10.3905	0.44166	0.0:0.658:0.0:0.342	.	393	P78332	RBM6_HUMAN	L	393;261	ENSP00000266022:F393L;ENSP00000396466:F261L	.	F	+	3	2	RBM6	49981041	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	0.769000	0.26604	-0.077000	0.12752	0.402000	0.26972	TTT		0.498	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		A	50006037	T	A	50006037	3	1	125	1	0	0	0	0	1	0	0	0	13150	1780	62	5	1185	5	RBM6	3	50006037	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	12938630	50006037	148016393	19	7608											
ADAMTS9	56999	hgsc.bcm.edu	37	3	64607988	64607988	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr3:64607988T>G	ENST00000498707.1	-	18	2914	c.2572A>C	c.(2572-2574)Aag>Cag	p.K858Q	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K830Q	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	858	Spacer.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGTACAACTTTCCCACCGAC	0.458																																																0													98	99	99					3																	64607988		2203	4300	6503	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2572A>C	3.37:g.64607988T>G	ENSP00000418735:p.Lys858Gln		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897144	0.52121	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.52057	0.68;0.68	5.78	4.6	0.57074	ADAM-TS Spacer 1 (1);	0.253189	0.39146	N	0.001456	T	0.41511	0.1162	L	0.44542	1.39	0.80722	D	1	B;B;B;B	0.19331	0.026;0.009;0.035;0.015	B;B;B;B	0.22386	0.038;0.022;0.039;0.024	T	0.19289	-1.0310	10	0.40728	T	0.16	.	13.0644	0.59025	0.0:0.0:0.1344:0.8656	.	830;858;858;858	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	Q	830;858	ENSP00000295903:K830Q;ENSP00000418735:K858Q	ENSP00000295903:K830Q	K	-	1	0	ADAMTS9	64583028	1.000000	0.71417	0.365000	0.25901	0.900000	0.52787	4.879000	0.63100	0.991000	0.38814	0.460000	0.39030	AAG		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			G	64607988	T	G	64607988	3	3	125	1	0	0	0	0	1	0	0	0	273	1850	64	5	3323	5	ADAMTS9	3	64607988	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	14601951	64607988	133414442	20	7609											
ARHGAP31	57514	hgsc.bcm.edu	37	3	119133104	119133104	+	Silent	SNP	T	T	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr3:119133104T>C	ENST00000264245.4	+	12	2860	c.2328T>C	c.(2326-2328)aaT>aaC	p.N776N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	776	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCCAGGCAATCTGTCTCCTC	0.577																																					Pancreas(7;176 297 5394 51128 51241)											0													54	58	57					3																	119133104		1948	4146	6094	SO:0001819	synonymous_variant	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2328T>C	3.37:g.119133104T>C			Q9ULL6	Silent	SNP	ENST00000264245.4	37	CCDS43135.1																																																																																				0.577	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			C	119133104	T	C	119133104	2	2	125	1	0	0	0	0	0	0	0	1	880	1432	50	3		3	ARHGAP31	3	119133104	Silent	SNP	T	TCGA-B0-4693-01A-01D-1361-10	54525116	119133104	78889326	21	7610											
PIK3CA	5290	hgsc.bcm.edu;ucsc.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936091	G	A	178936091	3	1	125	1	0	0	0	0	1	0	0	0	11915	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	59802987	178936091	19086339	22	7611											
IL1RAP	3556	hgsc.bcm.edu;ucsc.edu	37	3	190322001	190322001	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr3:190322001T>G	ENST00000412504.2	+	3	401	c.149T>G	c.(148-150)tTt>tGt	p.F50C	IL1RAP_ENST00000422940.1_Missense_Mutation_p.F50C|IL1RAP_ENST00000422485.1_Missense_Mutation_p.F50C|IL1RAP_ENST00000447382.1_Missense_Mutation_p.F50C|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000072516.3_Missense_Mutation_p.F50C|IL1RAP_ENST00000439062.1_Missense_Mutation_p.F50C|IL1RAP_ENST00000317757.3_Missense_Mutation_p.F50C|IL1RAP_ENST00000443369.2_Missense_Mutation_p.F50C			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	50	Ig-like C2-type 1.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGCCCACTCTTTGAACACTTC	0.483																																																0													110	99	103					3																	190322001		2203	4300	6503	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.149T>G	3.37:g.190322001T>G	ENSP00000412053:p.Phe50Cys		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663279	0.67700	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422625;ENST00000422485;ENST00000422940;ENST00000317757;ENST00000453359	T;T;T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.46	5.46	0.80206	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	L	0.58428	1.81	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.997	D	0.87242	0.2267	10	0.87932	D	0	.	15.0142	0.71570	0.0:0.0:0.0:1.0	.	50;50;50	Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;IL1AP_HUMAN;.	C	50	ENSP00000072516:F50C;ENSP00000408893:F50C;ENSP00000412053:F50C;ENSP00000401132:F50C;ENSP00000390541:F50C;ENSP00000389149:F50C;ENSP00000409352:F50C;ENSP00000387371:F50C;ENSP00000314807:F50C;ENSP00000412008:F50C	ENSP00000072516:F50C	F	+	2	0	IL1RAP	191804695	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.366000	0.79548	2.206000	0.71126	0.533000	0.62120	TTT		0.483	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			G	190322001	T	G	190322001	3	3	125	1	0	0	0	0	1	0	0	0	7662	1841	64	5	155	5	IL1RAP	3	190322001	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	11385910	190322001	7700429	23	7612											
TBC1D19	55296	hgsc.bcm.edu;ucsc.edu	37	4	26640457	26640457	+	Splice_Site	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr4:26640457G>A	ENST00000264866.4	+	6	711		c.e6+1		TBC1D19_ENST00000515568.1_Splice_Site|AC093807.1_ENST00000580172.1_RNA|TBC1D19_ENST00000511789.1_Splice_Site	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19								Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GATGAACCAGGTATGTGAACA	0.328																																																0													77	82	81					4																	26640457		2203	4299	6502	SO:0001630	splice_region_variant	55296			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.433+1G>A	4.37:g.26640457G>A			B9A6M0|Q9NUX1	Splice_Site	SNP	ENST00000264866.4	37	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170998	0.78452	.	.	ENSG00000109680	ENST00000512840;ENST00000264866;ENST00000505206;ENST00000511789;ENST00000513596	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.175	0.89759	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D19	26249555	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.770000	0.85390	2.657000	0.90304	0.655000	0.94253	.		0.328	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317	Intron	A	26640457	G	A	26640457	5	1	125	1	0	0	0	0	0	0	1	0	15612	1275	44	2	456	2	TBC1D19	4	26640457	Splice_Site	SNP	G	TCGA-B0-4693-01A-01D-1361-10		26640457	164513819	24	7613											
NFXL1	152518	hgsc.bcm.edu;ucsc.edu	37	4	47877157	47877157	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr4:47877157A>G	ENST00000507489.1	-	18	2409	c.2233T>C	c.(2233-2235)Tat>Cat	p.Y745H	NFXL1_ENST00000381538.3_Missense_Mutation_p.Y745H	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	745						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						CATTCCACATACAGGCTTGTG	0.338																																																0													107	100	102					4																	47877157		2203	4300	6503	SO:0001583	missense	152518			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.2233T>C	4.37:g.47877157A>G	ENSP00000422037:p.Tyr745His		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649865	0.47362	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.28895	1.59;1.59	5.94	5.94	0.96194	.	0.246785	0.34046	N	0.004320	T	0.26048	0.0635	L	0.35288	1.05	0.80722	D	1	B	0.27229	0.172	B	0.29598	0.104	T	0.06162	-1.0842	10	0.15952	T	0.53	-30.6471	16.3891	0.83525	1.0:0.0:0.0:0.0	.	745	Q6ZNB6	NFXL1_HUMAN	H	745	ENSP00000370949:Y745H;ENSP00000422037:Y745H	ENSP00000370949:Y745H	Y	-	1	0	NFXL1	47571914	1.000000	0.71417	0.930000	0.37139	0.910000	0.53928	7.425000	0.80255	2.276000	0.75962	0.397000	0.26171	TAT		0.338	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		G	47877157	A	G	47877157	3	3	125	1	0	0	0	0	1	0	0	0	10390	391	14	3	526	3	NFXL1	4	47877157	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10	21236700	47877157	143277119	25	7614											
NFXL1	152518	hgsc.bcm.edu;ucsc.edu	37	4	47877194	47877194	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr4:47877194C>T	ENST00000507489.1	-	18	2372	c.2196G>A	c.(2194-2196)atG>atA	p.M732I	NFXL1_ENST00000381538.3_Missense_Mutation_p.M732I	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	732						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						TTATTCTAAGCATCTGAACAC	0.398																																																0													125	113	117					4																	47877194		2203	4300	6503	SO:0001583	missense	152518			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.2196G>A	4.37:g.47877194C>T	ENSP00000422037:p.Met732Ile		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596349	0.66332	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.18502	2.21;2.21	5.94	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	L	0.49778	1.585	0.80722	D	1	P	0.42785	0.79	B	0.42555	0.391	T	0.00673	-1.1616	10	0.34782	T	0.22	-13.9747	15.5359	0.76001	0.0:0.9329:0.0:0.0671	.	732	Q6ZNB6	NFXL1_HUMAN	I	732	ENSP00000370949:M732I;ENSP00000422037:M732I	ENSP00000370949:M732I	M	-	3	0	NFXL1	47571951	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.589000	0.61006	2.821000	0.97095	0.484000	0.47621	ATG		0.398	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		T	47877194	C	T	47877194	3	4	125	1	0	0	0	0	1	0	0	0	10390	710	25	2	563	2	NFXL1	4	47877194	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10	37	47877194	143277082	26	7615											
DDIT4L	115265	hgsc.bcm.edu	37	4	101109221	101109221	+	Silent	SNP	C	C	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr4:101109221C>A	ENST00000273990.2	-	3	409	c.195G>T	c.(193-195)ctG>ctT	p.L65L	RP11-15B17.1_ENST00000515026.1_RNA|RP11-588P8.1_ENST00000515782.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	65					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TTGATTTGGACAGACAGTTCT	0.438																																																0													126	126	126					4																	101109221		2203	4300	6503	SO:0001819	synonymous_variant	115265			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"regulated in development and DNA damage response 2", " similar to Smhs1 protein"	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.195G>T	4.37:g.101109221C>A			B2R7C3	Silent	SNP	ENST00000273990.2	37	CCDS34036.1																																																																																				0.438	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244		A	101109221	C	A	101109221	2	1	125	1	0	0	0	0	0	0	0	1	4334	465	17	4		4	DDIT4L	4	101109221	Silent	SNP	C	TCGA-B0-4693-01A-01D-1361-10	53232027	101109221	90045055	27	7616											
AHRR	57491	hgsc.bcm.edu	37	5	413518	413518	+	Silent	SNP	A	A	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr5:413518A>G	ENST00000505113.1	+	5	467	c.423A>G	c.(421-423)gcA>gcG	p.A141A	AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000316418.5_Silent_p.A141A	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	141	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ATGCATCAGCAACGATCGTGG	0.398																																																0													135	124	128					5																	413518		1907	4115	6022	SO:0001819	synonymous_variant	57491			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.423A>G	5.37:g.413518A>G			A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	CCDS56355.1																																																																																				0.398	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		G	413518	A	G	413518	2	3	125	1	0	0	0	0	0	0	0	1	417	117	5	3		3	AHRR	5	413518	Silent	SNP	A	TCGA-B0-4693-01A-01D-1361-10		413518	180501742	28	7617											
DNAH5	1767	hgsc.bcm.edu;ucsc.edu	37	5	13793789	13793789	+	Missense_Mutation	SNP	T	T	C	rs139797525		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr5:13793789T>C	ENST00000265104.4	-	49	8163	c.8059A>G	c.(8059-8061)Aat>Gat	p.N2687D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2687	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTCTAGATTATAGAATCCA	0.453									Kartagener syndrome																																							0								T	ASP/ASN	0,4406		0,0,2203	96	99	98		8059	5.6	1	5	dbSNP_134	98	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DNAH5	NM_001369.2	23	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign	2687/4625	13793789	2,13004	2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8059A>G	5.37:g.13793789T>C	ENSP00000265104:p.Asn2687Asp		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.426436	0.62733	0.0	2.33E-4	ENSG00000039139	ENST00000265104	T	0.23147	1.92	5.64	5.64	0.86602	ATPase, AAA+ type, core (1);	0.097978	0.64402	D	0.000002	T	0.17534	0.0421	N	0.13352	0.335	0.80722	D	1	B	0.20988	0.05	B	0.27608	0.081	T	0.10154	-1.0642	10	0.15499	T	0.54	.	15.8526	0.78943	0.0:0.0:0.0:1.0	.	2687	Q8TE73	DYH5_HUMAN	D	2687	ENSP00000265104:N2687D	ENSP00000265104:N2687D	N	-	1	0	DNAH5	13846789	1.000000	0.71417	0.990000	0.47175	0.688000	0.40055	7.905000	0.87416	2.156000	0.67533	0.377000	0.23210	AAT		0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13793789	T	C	13793789	3	2	125	1	0	0	0	0	1	0	0	0	4606	1754	61	3	5939	3	DNAH5	5	13793789	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	13380271	13793789	167121471	29	7618											
ZFR	51663	hgsc.bcm.edu	37	5	32390431	32390431	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr5:32390431C>T	ENST00000265069.8	-	12	2194	c.2092G>A	c.(2092-2094)Ggc>Agc	p.G698S		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	698					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CCCAGAAGGCCTAATGGGCCT	0.557																																																0													132	126	128					5																	32390431		2203	4300	6503	SO:0001583	missense	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2092G>A	5.37:g.32390431C>T	ENSP00000265069:p.Gly698Ser		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141848	0.77775	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05258	3.47	5.42	5.42	0.78866	.	0.044279	0.85682	D	0.000000	T	0.17916	0.0430	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.01617	-1.1311	10	0.33940	T	0.23	.	19.2198	0.93791	0.0:1.0:0.0:0.0	.	698	Q96KR1	ZFR_HUMAN	S	698;676	ENSP00000265069:G698S	ENSP00000265069:G698S	G	-	1	0	ZFR	32426188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.955000	0.76007	2.550000	0.86006	0.561000	0.74099	GGC		0.557	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			T	32390431	C	T	32390431	3	4	125	1	0	0	0	0	1	0	0	0	17664	681	24	2	1168	2	ZFR	5	32390431	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10	18596642	32390431	148524829	30	7619											
FYB	2533	hgsc.bcm.edu	37	5	39137714	39137714	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr5:39137714C>G	ENST00000351578.6	-	7	1693	c.1503G>C	c.(1501-1503)aaG>aaC	p.K501N	FYB_ENST00000505428.1_Missense_Mutation_p.K501N|FYB_ENST00000540520.1_Missense_Mutation_p.K511N|FYB_ENST00000515010.1_Missense_Mutation_p.K501N|FYB_ENST00000512982.1_Missense_Mutation_p.K501N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	501					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TAAAtttcttctttatttctt	0.333																																																0													344	294	310					5																	39137714		932	2074	3006	SO:0001583	missense	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1503G>C	5.37:g.39137714C>G	ENSP00000316460:p.Lys501Asn		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353385	0.41700	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.26810	1.71;1.71;1.75;1.75;1.75	4.48	4.48	0.54585	Src homology-3 domain (1);	0.965179	0.08617	N	0.919000	T	0.32224	0.0822	L	0.53249	1.67	0.32653	N	0.51908	P;P	0.44627	0.501;0.839	B;B	0.43623	0.086;0.425	T	0.37314	-0.9711	10	0.62326	D	0.03	-0.0866	12.9708	0.58511	0.0:1.0:0.0:0.0	.	511;501	B4DLN2;O15117	.;FYB_HUMAN	N	501;501;501;501;511;501	ENSP00000316460:K501N;ENSP00000426346:K501N;ENSP00000425845:K501N;ENSP00000427114:K501N;ENSP00000442840:K511N	ENSP00000316460:K501N	K	-	3	2	FYB	39173471	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.758000	0.47565	2.776000	0.95493	0.655000	0.94253	AAG		0.333	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		G	39137714	C	G	39137714	3	3	125	1	0	0	0	0	1	0	0	0	6126	912	32	4	1038	4	FYB	5	39137714	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10	6747283	39137714	141777546	31	7620											
MAP1B	4131	hgsc.bcm.edu;ucsc.edu	37	5	71495734	71495734	+	Silent	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr5:71495734G>A	ENST00000296755.7	+	5	6850	c.6552G>A	c.(6550-6552)tcG>tcA	p.S2184S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2184					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACGAGTCGGAAACCATCC	0.592																																					Melanoma(17;367 822 11631 31730 47712)											0													128	116	120					5																	71495734		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6552G>A	5.37:g.71495734G>A			A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.592	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		A	71495734	G	A	71495734	2	1	125	1	0	0	0	0	0	0	0	1	9230	1103	39	1		1	MAP1B	5	71495734	Silent	SNP	G	TCGA-B0-4693-01A-01D-1361-10	32358020	71495734	109419526	32	7621											
ST8SIA4	7903	hgsc.bcm.edu;ucsc.edu	37	5	100192026	100192026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr5:100192026G>T	ENST00000231461.5	-	4	888	c.578C>A	c.(577-579)tCa>tAa	p.S193*		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	193					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTGTACAACTGATGGATTCAT	0.398																																																0													116	108	111					5																	100192026		2203	4300	6503	SO:0001587	stop_gained	7903			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.578C>A	5.37:g.100192026G>T	ENSP00000231461:p.Ser193*		A8KA07|G3V104|Q8N1F4|Q92693	Nonsense_Mutation	SNP	ENST00000231461.5	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	G	39	7.658948	0.98415	.	.	ENSG00000113532	ENST00000231461	.	.	.	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1029	18.1509	0.89674	0.0:0.0:1.0:0.0	.	.	.	.	X	193	.	ENSP00000231461:S193X	S	-	2	0	ST8SIA4	100219925	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.615000	0.98356	2.751000	0.94390	0.591000	0.81541	TCA		0.398	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		T	100192026	G	T	100192026	4	4	125	1	0	0	0	0	0	1	0	0	15239	1294	45	4	509	4	ST8SIA4	5	100192026	Nonsense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	28696292	100192026	80723234	33	7622											
PCDHB11	56125	hgsc.bcm.edu;ucsc.edu	37	5	140580452	140580452	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr5:140580452A>G	ENST00000354757.3	+	1	1105	c.1105A>G	c.(1105-1107)Agt>Ggt	p.S369G	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S4G	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	369	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATGGTTTTTAGTATCCAAGA	0.413																																																0													114	113	113					5																	140580452		2203	4300	6503	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1105A>G	5.37:g.140580452A>G	ENSP00000346802:p.Ser369Gly		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.200041	0.58126	.	.	ENSG00000197479	ENST00000536699;ENST00000354757;ENST00000536825	T;T	0.52057	0.68;4.62	2.52	1.33	0.21861	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54447	0.1859	M	0.77616	2.38	0.09310	N	1	B	0.18863	0.031	B	0.39660	0.306	T	0.57400	-0.7818	9	0.48119	T	0.1	.	6.4991	0.22158	0.8675:0.0:0.1325:0.0	.	369	Q9Y5F2	PCDBB_HUMAN	G	4;369;59	ENSP00000440344:S4G;ENSP00000346802:S369G	ENSP00000346802:S369G	S	+	1	0	PCDHB11	140560636	0.000000	0.05858	0.005000	0.12908	0.733000	0.41908	0.320000	0.19540	0.231000	0.21079	0.254000	0.18369	AGT		0.413	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		G	140580452	A	G	140580452	3	3	125	1	0	0	0	0	1	0	0	0	11538	420	15	3	1107	3	PCDHB11	5	140580452	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10	40388426	140580452	40334808	34	7623											
FAM83B	222584	hgsc.bcm.edu;ucsc.edu	37	6	54791190	54791190	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr6:54791190A>T	ENST00000306858.7	+	3	582	c.466A>T	c.(466-468)Ata>Tta	p.I156L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	156										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTGATGGATATATTTACAGA	0.308																																																0													86	91	89					6																	54791190		2203	4298	6501	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.466A>T	6.37:g.54791190A>T	ENSP00000304078:p.Ile156Leu		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542572	0.45280	.	.	ENSG00000168143	ENST00000306858	T	0.15372	2.43	5.31	2.94	0.34122	.	0.389260	0.30800	N	0.008846	T	0.02230	0.0069	N	0.04132	-0.27	0.20403	N	0.99991	B	0.16396	0.017	B	0.17722	0.019	T	0.44907	-0.9297	10	0.32370	T	0.25	-4.3401	8.9183	0.35596	0.8451:0.0:0.1549:0.0	.	156	Q5T0W9	FA83B_HUMAN	L	156	ENSP00000304078:I156L	ENSP00000304078:I156L	I	+	1	0	FAM83B	54899149	1.000000	0.71417	0.963000	0.40424	0.904000	0.53231	1.451000	0.35145	0.349000	0.23975	0.460000	0.39030	ATA		0.308	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		T	54791190	A	T	54791190	3	4	125	1	0	0	0	0	1	0	0	0	5636	449	16	5	472	5	FAM83B	6	54791190	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10		54791190	116323877	35	7624											
COL21A1	81578	hgsc.bcm.edu;ucsc.edu	37	6	55942327	55942327	+	Splice_Site	SNP	C	C	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr6:55942327C>A	ENST00000244728.5	-	18	2254	c.1857G>T	c.(1855-1857)aaG>aaT	p.K619N	COL21A1_ENST00000370808.2_Splice_Site_p.K19N|COL21A1_ENST00000370819.1_Splice_Site_p.K616N|COL21A1_ENST00000535941.1_Splice_Site_p.K619N|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	619					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAATACTTACCTTTTGGCCCA	0.313																																																0													48	45	46					6																	55942327		1817	4056	5873	SO:0001630	splice_region_variant	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1857+1G>T	6.37:g.55942327C>A			A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237605	0.39598	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	T;T;T;D	0.93604	1.57;1.57;1.57;-3.25	5.12	2.14	0.27477	.	0.000000	0.64402	D	0.000015	D	0.92606	0.7651	L	0.60957	1.885	0.43421	D	0.995574	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.80764	0.994;0.987;0.986	D	0.90599	0.4543	9	.	.	.	.	7.5845	0.27985	0.0:0.6979:0.0:0.3021	.	19;619;619	Q96P44-2;B7ZLK3;Q96P44	.;.;COLA1_HUMAN	N	619;616;619;616;19	ENSP00000244728:K619N;ENSP00000359855:K616N;ENSP00000444384:K619N;ENSP00000359844:K19N	.	K	-	3	2	COL21A1	56050286	0.991000	0.36638	0.986000	0.45419	0.772000	0.43724	-0.002000	0.12924	0.459000	0.27016	0.650000	0.86243	AAG		0.313	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		Missense_Mutation	A	55942327	C	A	55942327	5	1	125	1	0	0	0	0	0	0	1	0	3682	695	24	4	1068	4	COL21A1	6	55942327	Splice_Site	SNP	C	TCGA-B0-4693-01A-01D-1361-10	1151137	55942327	115172740	36	7625											
MANEA	79694	hgsc.bcm.edu	37	6	96053922	96053922	+	Missense_Mutation	SNP	T	T	A	rs35772543	byFrequency	TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr6:96053922T>A	ENST00000358812.4	+	5	1164	c.1030T>A	c.(1030-1032)Ttt>Att	p.F344I		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	344	Catalytic. {ECO:0000305}.			F -> I (in Ref. 2; AAQ75077, 3; BAB14298 and 4; CAE45927). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CCTAAAATTATTTTGTGATAA	0.378													T|||	226	0.0451278	0.0038	0.0605	5008	,	,		18638	0.0595		0.0765	False		,,,				2504	0.0429															0								T	ILE/PHE	84,4322	68.1+/-105.8	2,80,2121	59	64	62		1030	6.2	0.9	6	dbSNP_126	62	740,7858	177.2+/-226.9	39,662,3598	yes	missense	MANEA	NM_024641.3	21	41,742,5719	AA,AT,TT		8.6067,1.9065,6.3365	probably-damaging	344/463	96053922	824,12180	2203	4299	6502	SO:0001583	missense	79694			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1030T>A	6.37:g.96053922T>A	ENSP00000351669:p.Phe344Ile		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	CCDS5032.1	136	0.06227106227106227	2	0.0040650406504065045	29	0.08011049723756906	37	0.06468531468531469	68	0.08970976253298153	T	29.1	4.981294	0.93044	0.019065	0.086067	ENSG00000172469	ENST00000358812	D	0.92647	-3.08	6.17	6.17	0.99709	.	0.086298	0.85682	N	0.000000	D	0.95990	0.8694	M	0.86740	2.835	0.09310	P	0.9999999800898	D	0.89917	1.0	D	0.87578	0.998	D	0.95687	0.8737	9	0.46703	T	0.11	-24.0744	16.0034	0.80327	0.0:0.0:0.0:1.0	rs35772543	344	Q5SRI9	MANEA_HUMAN	I	344	ENSP00000351669:F344I	ENSP00000351669:F344I	F	+	1	0	MANEA	96160643	1.000000	0.71417	0.915000	0.36163	0.910000	0.53928	7.603000	0.82811	2.371000	0.80710	0.533000	0.62120	TTT		0.378	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		A	96053922	T	A	96053922	3	1	125	1	0	0	0	0	1	0	0	0	9223	1493	52	5	1044	5	MANEA	6	96053922	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	40111595	96053922	75061145	37	7626											
MACC1	346389	hgsc.bcm.edu	37	7	20199087	20199087	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr7:20199087A>T	ENST00000400331.5	-	5	1205	c.897T>A	c.(895-897)gaT>gaA	p.D299E	MACC1_ENST00000332878.4_Missense_Mutation_p.D299E|MACC1_ENST00000589011.1_Missense_Mutation_p.D299E	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	299					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GGCTGAAAGGATCCTTTCTTA	0.423																																																0													64	60	62					7																	20199087		2203	4300	6503	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.897T>A	7.37:g.20199087A>T	ENSP00000383185:p.Asp299Glu		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690809	0.48097	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.14266	2.52;2.52	5.47	2.79	0.32731	.	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	L	0.45137	1.4	0.52099	D	0.99994	D	0.62365	0.991	P	0.46362	0.514	T	0.03695	-1.1012	10	0.37606	T	0.19	-23.1066	10.2947	0.43616	0.8436:0.0:0.1564:0.0	.	299	Q6ZN28	MACC1_HUMAN	E	299	ENSP00000383185:D299E;ENSP00000328410:D299E	ENSP00000328410:D299E	D	-	3	2	MACC1	20165612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.959000	0.40412	0.930000	0.37217	0.477000	0.44152	GAT		0.423	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		T	20199087	A	T	20199087	3	4	125	1	0	0	0	0	1	0	0	0	9145	330	12	5	1673	5	MACC1	7	20199087	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10		20199087	138939576	38	7627											
PTPN12	5782	hgsc.bcm.edu;ucsc.edu	37	7	77256100	77256100	+	Silent	SNP	T	T	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr7:77256100T>G	ENST00000248594.6	+	13	1376	c.1104T>G	c.(1102-1104)ccT>ccG	p.P368P	PTPN12_ENST00000435495.2_Silent_p.P238P|PTPN12_ENST00000415482.2_Silent_p.P249P	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	368	Interaction with TGFB1I1. {ECO:0000250}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCTTGACACCTTCTCCCCCTT	0.438																																																0													100	90	93					7																	77256100		2203	4300	6503	SO:0001819	synonymous_variant	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1104T>G	7.37:g.77256100T>G			A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	ENST00000248594.6	37	CCDS5592.1																																																																																				0.438	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			G	77256100	T	G	77256100	2	3	125	1	0	0	0	0	0	0	0	1	12787	1596	56	5		5	PTPN12	7	77256100	Silent	SNP	T	TCGA-B0-4693-01A-01D-1361-10	57057013	77256100	81882563	39	7628											
C7orf61	402573	hgsc.bcm.edu;ucsc.edu	37	7	100061219	100061219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr7:100061219G>A	ENST00000332375.3	-	2	399	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	TSC22D4_ENST00000496728.1_5'UTR|RN7SL161P_ENST00000582642.1_RNA	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	52						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						TCAACCACCTGGAGAGTCTTC	0.507																																																0													61	70	67					7																	100061219		2030	4192	6222	SO:0001587	stop_gained	402573				CCDS47661.1	7q22.1	2013-10-11			ENSG00000185955	ENSG00000185955			22135	protein-coding gene	gene with protein product						12690205	Standard	NM_001004323		Approved	IMAGE:4839025	uc003uuz.1	Q8IZ16	OTTHUMG00000150234	ENST00000332375.3:c.154C>T	7.37:g.100061219G>A	ENSP00000327732:p.Gln52*			Nonsense_Mutation	SNP	ENST00000332375.3	37	CCDS47661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.129|9.129	1.010949|1.010949	0.19277|0.19277	.|.	.|.	ENSG00000185955|ENSG00000185955	ENST00000418952|ENST00000332375	.|.	.|.	.|.	3.93|3.93	-1.71|-1.71	0.08133|0.08133	.|.	.|1.073540	.|0.07357	.|N	.|0.883407	T|.	0.14830|.	0.0358|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29150|.	-1.0021|.	4|.	.|0.02654	.|T	.|1	-34.5073|-34.5073	11.847|11.847	0.52389|0.52389	0.0:0.0:0.6857:0.3143|0.0:0.0:0.6857:0.3143	.|.	.|.	.|.	.|.	L|X	93|52	.|.	.|ENSP00000327732:Q52X	P|Q	-|-	2|1	0|0	C7orf61|C7orf61	99899155|99899155	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.146000|0.146000	0.21551|0.21551	0.032000|0.032000	0.13732|0.13732	-0.266000|-0.266000	0.09339|0.09339	-0.500000|-0.500000	0.04577|0.04577	CCA|CAG		0.507	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316976.2	NM_001004323		A	100061219	G	A	100061219	4	1	125	1	0	0	0	0	0	1	0	0	2410	1357	47	2	474	2	C7orf61	7	100061219	Nonsense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	22805119	100061219	59077444	40	7629											
SPAG11A	653423	hgsc.bcm.edu	37	8	7706329	7706329	+	Missense_Mutation	SNP	C	C	T	rs202056068		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr8:7706329C>T	ENST00000400125.2	+	2	349	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	SPAG11A_ENST00000326558.5_Missense_Mutation_p.R60W|SPAG11A_ENST00000351436.4_Missense_Mutation_p.R60W|SPAG11A_ENST00000434307.2_Missense_Mutation_p.R60W			Q6PDA7	SG11A_HUMAN	sperm associated antigen 11A	60				R -> W (in Ref. 4; AAH58833). {ECO:0000305}.		extracellular region (GO:0005576)				central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CGCAGTGAAACGGGACCTCTT	0.572																																																0													6	2	4					8																	7706329		1706	3198	4904	SO:0001583	missense	653423				CCDS43700.1	8p23.1	2009-09-12	2007-03-15		ENSG00000178287	ENSG00000178287			33342	protein-coding gene	gene with protein product	"epididymal protein 2A"						Standard	NM_001081552		Approved	HE2, EDDM2A		Q6PDA7	OTTHUMG00000162440	ENST00000400125.2:c.178C>T	8.37:g.7706329C>T	ENSP00000382990:p.Arg60Trp		A6NIY0|E9PAK7	Missense_Mutation	SNP	ENST00000400125.2	37		73	0.033424908424908424	10	0.02032520325203252	15	0.04143646408839779	6	0.01048951048951049	42	0.055408970976253295	C	9.009	0.981988	0.18812	.	.	ENSG00000178287	ENST00000400125;ENST00000434307;ENST00000326558;ENST00000351436	T;T	0.62788	0.74;0.0	2.15	0.169	0.15017	.	.	.	.	.	T	0.25568	0.0622	.	.	.	0.09310	N	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;D	0.83275	0.993;0.855;0.972;0.996	T	0.39143	-0.9628	8	0.66056	D	0.02	.	4.3732	0.11258	0.2616:0.4827:0.2557:0.0	.	60;60;60;60	Q08648-4;Q6PDA7-2;Q6PDA7;C9JN37	.;.;SG11A_HUMAN;.	W	60	ENSP00000416991:R60W;ENSP00000297496:R60W	ENSP00000316012:R60W	R	+	1	2	SPAG11A	7743739	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.549000	0.06041	0.029000	0.15352	0.505000	0.49811	CGG		0.572	SPAG11A-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000383797.1	NM_001081552		T	7706329	C	T	7706329	3	4	125	1	0	0	0	0	1	0	0	0	14982	527	19	1	184	1	SPAG11A	8	7706329	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10		7706329	138657693	41	7630											
UBR5	51366	hgsc.bcm.edu;ucsc.edu	37	8	103266717	103266717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr8:103266717G>T	ENST00000520539.1	-	59	8819	c.8213C>A	c.(8212-8214)tCa>tAa	p.S2738*	UBR5_ENST00000518205.1_Nonsense_Mutation_p.S466*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.S2731*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.S2737*|KB-431C1.4_ENST00000520820.1_RNA|KB-431C1.5_ENST00000606361.1_RNA|KB-431C1.4_ENST00000499653.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2738	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.|Pro-rich.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGCTGGCAGTGATGGGCTTGA	0.403																																					Ovarian(131;96 1741 5634 7352 27489)											0													148	133	138					8																	103266717		2203	4300	6503	SO:0001587	stop_gained	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8213C>A	8.37:g.103266717G>T	ENSP00000429084:p.Ser2738*		B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	52	18.614992	0.99908	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	19.7009	0.96052	0.0:0.0:1.0:0.0	.	.	.	.	X	2738;2737;466;2731	.	ENSP00000220959:S2737X	S	-	2	0	UBR5	103335893	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.932000	0.87634	2.646000	0.89796	0.563000	0.77884	TCA		0.403	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103266717	G	T	103266717	4	4	125	1	0	0	0	0	0	1	0	0	16910	1294	45	4	190	4	UBR5	8	103266717	Nonsense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	95560388	103266717	43097305	42	7631											
PKHD1L1	93035	hgsc.bcm.edu;ucsc.edu	37	8	110464467	110464467	+	Silent	SNP	T	T	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr8:110464467T>A	ENST00000378402.5	+	42	6569	c.6465T>A	c.(6463-6465)gcT>gcA	p.A2155A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2155	IPT/TIG 14.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGGGTGGGCTCCAGTTTGTG	0.448										HNSCC(38;0.096)																																						0													120	114	116					8																	110464467		1941	4155	6096	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6465T>A	8.37:g.110464467T>A			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110464467	T	A	110464467	2	1	125	1	0	0	0	0	0	0	0	1	11974	1538	54	5		5	PKHD1L1	8	110464467	Silent	SNP	T	TCGA-B0-4693-01A-01D-1361-10	7197750	110464467	35899555	43	7632											
NCBP1	4686	hgsc.bcm.edu;ucsc.edu	37	9	100409780	100409780	+	Silent	SNP	C	C	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr9:100409780C>T	ENST00000375147.3	+	7	874	c.618C>T	c.(616-618)cgC>cgT	p.R206R		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	206	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TTAGAAGACGCCAAAAGACTC	0.358																																					Ovarian(36;879 898 2893 44212 50307)											0													116	107	110					9																	100409780		2203	4300	6503	SO:0001819	synonymous_variant	4686			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.618C>T	9.37:g.100409780C>T			B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	CCDS6728.1																																																																																				0.358	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		T	100409780	C	T	100409780	2	4	125	1	0	0	0	0	0	0	0	1	10213	726	26	2		2	NCBP1	9	100409780	Silent	SNP	C	TCGA-B0-4693-01A-01D-1361-10		100409780	40803651	44	7633											
EXOSC2	23404	hgsc.bcm.edu	37	9	133578519	133578519	+	Missense_Mutation	SNP	T	T	A	rs566092143		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr9:133578519T>A	ENST00000372358.5	+	8	823	c.752T>A	c.(751-753)cTg>cAg	p.L251Q	EXOSC2_ENST00000467138.1_3'UTR|EXOSC2_ENST00000546165.1_Missense_Mutation_p.L225Q|EXOSC2_ENST00000372352.3_Missense_Mutation_p.L243Q|EXOSC2_ENST00000372351.3_Missense_Mutation_p.L221Q			Q13868	EXOS2_HUMAN	exosome component 2	251					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		AGGATGATGCTGTATGATACC	0.517																																					Pancreas(134;1683 1824 10118 27928 31640)											0													151	127	135					9																	133578519		2203	4300	6503	SO:0001583	missense	23404			AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.752T>A	9.37:g.133578519T>A	ENSP00000361433:p.Leu251Gln		A3KFL3|B4DKK6|Q9NUY4	Missense_Mutation	SNP	ENST00000372358.5	37	CCDS6935.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801952	0.90538	.	.	ENSG00000130713	ENST00000372358;ENST00000546165;ENST00000372352;ENST00000372351;ENST00000495699	.	.	.	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	D	0.84642	0.5517	M	0.90369	3.11	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.971;0.998	D	0.88028	0.2773	9	0.87932	D	0	-11.4367	14.7885	0.69821	0.0:0.0:0.0:1.0	.	225;251	B4DKK6;Q13868	.;EXOS2_HUMAN	Q	251;225;243;221;228	.	ENSP00000361426:L221Q	L	+	2	0	EXOSC2	132568340	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.997000	0.88414	2.141000	0.66446	0.528000	0.53228	CTG		0.517	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054673.1	NM_014285		A	133578519	T	A	133578519	3	1	125	1	0	0	0	0	1	0	0	0	5317	1580	55	5	782	5	EXOSC2	9	133578519	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	33168739	133578519	7634912	45	7634											
LAMC3	10319	hgsc.bcm.edu	37	9	133928345	133928345	+	Silent	SNP	C	C	T	rs12349966	byFrequency	TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr9:133928345C>T	ENST00000361069.4	+	11	2065	c.1932C>T	c.(1930-1932)agC>agT	p.S644S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	644	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGGCCCCAGCCCTGCCGGTC	0.667											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2403	0.479832	0.621	0.3271	5008	,	,		14176	0.4226		0.4642	False		,,,				2504	0.4724															0								C		2552,1850		761,1030,410	23	23	23		1932	3.9	0	9	dbSNP_120	23	3828,4764		874,2080,1342	no	coding-synonymous	LAMC3	NM_006059.3		1635,3110,1752	TT,TC,CC		44.5531,42.0264,49.0996		644/1576	133928345	6380,6614	2201	4296	6497	SO:0001819	synonymous_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1932C>T	9.37:g.133928345C>T		1606	B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																				0.667	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		T	133928345	C	T	133928345	2	4	125	1	0	0	0	0	0	0	0	1	8618	738	26	2		2	LAMC3	9	133928345	Silent	SNP	C	TCGA-B0-4693-01A-01D-1361-10	349826	133928345	7285086	46	7635											
FAM78A	286336	hgsc.bcm.edu	37	9	134136486	134136486	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr9:134136486C>A	ENST00000372271.3	-	2	942	c.575G>T	c.(574-576)tGg>tTg	p.W192L	FAM78A_ENST00000372269.3_Missense_Mutation_p.W189L|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	192										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GGCCACCAGCCAGGTGGTGAA	0.602																																																0													103	93	97					9																	134136486		2203	4300	6503	SO:0001583	missense	286336			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.575G>T	9.37:g.134136486C>A	ENSP00000361345:p.Trp192Leu		Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824139	0.90873	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.92911	-3.13;-3.13;-3.13	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	M	0.75777	2.31	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.96300	0.9220	10	0.87932	D	0	-16.7531	17.1064	0.86664	0.0:1.0:0.0:0.0	.	192;189	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	L	189;192;161	ENSP00000361343:W189L;ENSP00000361345:W192L;ENSP00000419959:W161L	ENSP00000361343:W189L	W	-	2	0	FAM78A	133126307	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.776000	0.85560	2.337000	0.79520	0.462000	0.41574	TGG		0.602	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		A	134136486	C	A	134136486	3	1	125	1	0	0	0	0	1	0	0	0	5628	595	21	4	280	4	FAM78A	9	134136486	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10	208141	134136486	7076945	47	7636											
PITRM1	10531	hgsc.bcm.edu	37	10	3187802	3187802	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr10:3187802G>T	ENST00000224949.4	-	21	2477	c.2443C>A	c.(2443-2445)Cca>Aca	p.P815T	PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.P373T|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.P717T|PITRM1_ENST00000380989.2_Missense_Mutation_p.P816T			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	815					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACCGTGTGTGGGCGCACAGGC	0.557																																																0													46	49	48					10																	3187802		1832	3833	5665	SO:0001583	missense	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2443C>A	10.37:g.3187802G>T	ENSP00000224949:p.Pro815Thr		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.210|6.210	0.406982|0.406982	0.11754|0.11754	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000451454|ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000424714	.|T;T;T;T;T	.|0.60171	.|3.78;3.78;3.15;3.65;0.21	5.02|5.02	4.11|4.11	0.48088|0.48088	.|Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.160973|0.160973	0.56097|0.56097	D|D	0.000031|0.000031	T|T	0.51584|0.51584	0.1683|0.1683	L|L	0.43923|0.43923	1.385|1.385	0.43924|0.43924	D|D	0.996575|0.996575	.|B;B;B;B;B	.|0.28470	.|0.02;0.213;0.014;0.014;0.014	.|B;B;B;B;B	.|0.33960	.|0.003;0.173;0.017;0.017;0.017	T|T	0.47484|0.47484	-0.9114|-0.9114	6|10	.|0.30078	.|T	.|0.28	-21.3369|-21.3369	13.8938|13.8938	0.63757|0.63757	0.0747:0.0:0.9253:0.0|0.0747:0.0:0.9253:0.0	.|.	.|808;717;816;815;808	.|E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.|.;.;.;PREP_HUMAN;.	H|T	148|815;808;816;373;717;34	.|ENSP00000224949:P815T;ENSP00000370377:P816T;ENSP00000370382:P373T;ENSP00000401201:P717T;ENSP00000402072:P34T	.|ENSP00000224949:P815T	P|P	-|-	2|1	0|0	PITRM1|PITRM1	3177802|3177802	1.000000|1.000000	0.71417|0.71417	0.015000|0.015000	0.15790|0.15790	0.006000|0.006000	0.05464|0.05464	3.658000|3.658000	0.54482|0.54482	1.238000|1.238000	0.43771|0.43771	0.462000|0.462000	0.41574|0.41574	CCC|CCA		0.557	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			T	3187802	G	T	3187802	3	4	125	1	0	0	0	0	1	0	0	0	11955	1232	43	4	698	4	PITRM1	10	3187802	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10		3187802	132346945	48	7637											
CDH23	414152	hgsc.bcm.edu	37	10	73483833	73483833	+	Intron	SNP	T	T	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr10:73483833T>A	ENST00000398786.2	-	2	97				CDH23_ENST00000224721.6_Missense_Mutation_p.F1139Y	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GAGGGCGAGTTTGGGCGTGTG	0.587																																																0													64	73	70					10																	73483833		2055	4163	6218	SO:0001627	intron_variant	64072			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.5-7734A>T	10.37:g.73483833T>A				Missense_Mutation	SNP	ENST00000398786.2	37	CCDS44430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	15.87|15.87	2.960940|2.960940	0.53400|0.53400	.|.	.|.	ENSG00000107736|ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721|ENST00000398792	.|.	.|.	.|.	4.89|4.89	3.7|3.7	0.42460|0.42460	Cadherin (4);Cadherin-like (1);|.	0.136086|.	0.45361|.	D|.	0.000373|.	T|T	0.40719|0.40719	0.1128|0.1128	N|N	0.13327|0.13327	0.33|0.33	0.80722|0.80722	D|D	1|1	B;B|.	0.15719|.	0.014;0.001|.	B;B|.	0.16722|.	0.016;0.01|.	T|T	0.42396|0.42396	-0.9454|-0.9454	9|6	0.56958|0.87932	D|D	0.05|0	.|.	7.6788|7.6788	0.28500|0.28500	0.4629:0.0:0.0:0.5371|0.4629:0.0:0.0:0.5371	.|.	1134;1134|.	Q6P152;Q9H251|.	.;CAD23_HUMAN|.	Y|M	1139;1134;1137|5	.|.	ENSP00000224721:F1139Y|ENSP00000381772:L5M	F|L	+|+	2|1	0|2	CDH23|CDH23	73153839|73153839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.761000|0.761000	0.43186|0.43186	5.557000|5.557000	0.67313|0.67313	1.827000|1.827000	0.53221|0.53221	0.449000|0.449000	0.29647|0.29647	TTT|TTG		0.587	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		A	73483833	T	A	73483833	1	1	125	0	1	0	0	0	0	0	0	0	3110	1841	64	5		5	CDH23	10	73483833	Intron	SNP	T	TCGA-B0-4693-01A-01D-1361-10	70296031	73483833	62050914	49	7638											
HBB	3043	hgsc.bcm.edu	37	11	5247865	5247865	+	Missense_Mutation	SNP	A	A	C	rs35693898		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr11:5247865A>C	ENST00000335295.4	-	2	306	c.257T>G	c.(256-258)tTt>tGt	p.F86C	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	86					bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAGTGTGGCAAAGGTGCCCTT	0.522									Sickle Cell Trait																																							0			GRCh37	CM034661	HBB	M	rs35693898						137	115	123					11																	5247865		2201	4298	6499	SO:0001583	missense	3043	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.257T>G	11.37:g.5247865A>C	ENSP00000333994:p.Phe86Cys		A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	a	16.08	3.021462	0.54576	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.93076	-3.16;-3.16	5.24	-2.04	0.07343	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.96027	0.8706	M	0.86864	2.845	0.39098	D	0.961229	D	0.53619	0.961	D	0.66602	0.945	D	0.95497	0.8574	9	0.87932	D	0	-0.9634	12.0533	0.53520	0.3821:0.0:0.0:0.6179	.	86	P68871	HBB_HUMAN	C	86	ENSP00000333994:F86C;ENSP00000369671:F86C	ENSP00000333994:F86C	F	-	2	0	HBB	5204441	0.372000	0.25064	0.990000	0.47175	0.432000	0.31715	0.808000	0.27154	-0.109000	0.12044	0.528000	0.53228	TTT		0.522	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		C	5247865	A	C	5247865	3	2	125	1	0	0	0	0	1	0	0	0	6980	14	1	5	194	5	HBB	11	5247865	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10		5247865	129758651	50	7639											
SLC39A13	91252	hgsc.bcm.edu	37	11	47434010	47434010	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr11:47434010A>T	ENST00000362021.4	+	4	571	c.529A>T	c.(529-531)Acc>Tcc	p.T177S	SLC39A13_ENST00000354884.4_Missense_Mutation_p.T177S|SLC39A13_ENST00000533076.1_Missense_Mutation_p.T177S|SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000524928.1_Missense_Mutation_p.T177S	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	177					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		GGAGGAGGGGACCAGCCAGGT	0.622											OREG0020959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													56	51	53					11																	47434010		2201	4298	6499	SO:0001583	missense	91252				CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"Solute carriers"	20859	protein-coding gene	gene with protein product		608735	"solute carrier family 39 (metal ion transporter), member 13"			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.529A>T	11.37:g.47434010A>T	ENSP00000354689:p.Thr177Ser	946	D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	ENST00000362021.4	37	CCDS44592.1	.	.	.	.	.	.	.	.	.	.	A	1.483	-0.556615	0.03967	.	.	ENSG00000165915	ENST00000533076;ENST00000531419;ENST00000531865;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000524928	T;T;T;T;T;T;T	0.45276	0.96;1.01;0.9;0.96;0.96;0.96;0.96	4.77	-1.42	0.08913	.	1.110680	0.06522	N	0.739892	T	0.21509	0.0518	N	0.17631	0.505	0.09310	N	1	B;B;B	0.14438	0.003;0.0;0.01	B;B;B	0.14023	0.004;0.002;0.01	T	0.19418	-1.0306	10	0.09338	T	0.73	-7.6117	3.3039	0.06993	0.3292:0.4064:0.172:0.0924	.	177;177;177	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	S	177	ENSP00000434290:T177S;ENSP00000432302:T177S;ENSP00000434684:T177S;ENSP00000354689:T177S;ENSP00000346956:T177S;ENSP00000432499:T177S;ENSP00000437186:T177S	ENSP00000346956:T177S	T	+	1	0	SLC39A13	47390586	0.000000	0.05858	0.000000	0.03702	0.402000	0.30811	-0.418000	0.07080	-0.517000	0.06461	0.379000	0.24179	ACC		0.622	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	NM_152264		T	47434010	A	T	47434010	3	4	125	1	0	0	0	0	1	0	0	0	14622	275	10	5	539	5	SLC39A13	11	47434010	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10	42186145	47434010	87572506	51	7640											
DHCR7	1717	hgsc.bcm.edu	37	11	71152418	71152418	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr11:71152418T>C	ENST00000355527.3	-	6	757	c.481A>G	c.(481-483)Aac>Gac	p.N161D	DHCR7_ENST00000407721.2_Missense_Mutation_p.N161D	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	161					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.N161H(1)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						AGATGAGCGTTTGCAAACCAG	0.542									Smith-Lemli-Opitz syndrome																																							1	Substitution - Missense(1)	liver(1)											173	127	143					11																	71152418		2200	4294	6494	SO:0001583	missense	1717	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.481A>G	11.37:g.71152418T>C	ENSP00000347717:p.Asn161Asp		B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.185690	0.38609	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316;ENST00000526780	D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.02	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	D	0.97558	0.9200	M	0.67953	2.075	0.48901	D	0.999729	D	0.59357	0.985	P	0.58928	0.848	D	0.96308	0.9226	10	0.23302	T	0.38	-38.9747	11.4081	0.49911	0.0:0.0:0.0:1.0	.	161	Q9UBM7	DHCR7_HUMAN	D	161;161;173;129;161	ENSP00000384739:N161D;ENSP00000347717:N161D;ENSP00000435047:N129D;ENSP00000435668:N161D	ENSP00000347717:N161D	N	-	1	0	DHCR7	70830066	1.000000	0.71417	0.002000	0.10522	0.003000	0.03518	6.954000	0.76001	1.654000	0.50703	0.260000	0.18958	AAC		0.542	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		C	71152418	T	C	71152418	3	2	125	1	0	0	0	0	1	0	0	0	4479	1841	64	3	962	3	DHCR7	11	71152418	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	23718408	71152418	63854098	52	7641											
KCTD21	283219	hgsc.bcm.edu;ucsc.edu	37	11	77885169	77885169	+	Silent	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr11:77885169G>A	ENST00000340067.3	-	2	710	c.432C>T	c.(430-432)ttC>ttT	p.F144F	KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	144					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TGTTGGCGTTGAAGACCTCCA	0.552																																																0													145	123	131					11																	77885169		2200	4292	6492	SO:0001819	synonymous_variant	283219			AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 21"			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.432C>T	11.37:g.77885169G>A			B4DTR0	Silent	SNP	ENST00000340067.3	37	CCDS31645.1																																																																																				0.552	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		A	77885169	G	A	77885169	2	1	125	1	0	0	0	0	0	0	0	1	8111	1281	45	2		2	KCTD21	11	77885169	Silent	SNP	G	TCGA-B0-4693-01A-01D-1361-10	6732751	77885169	57121347	53	7642											
CCDC82	79780	hgsc.bcm.edu	37	11	96104275	96104275	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr11:96104275T>A	ENST00000278520.5	-	6	1539	c.1111A>T	c.(1111-1113)Aaa>Taa	p.K371*	CCDC82_ENST00000542662.1_Nonsense_Mutation_p.K371*|CCDC82_ENST00000423339.2_Nonsense_Mutation_p.K371*			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	371										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		AGCATATCTTTTGCATATGAT	0.313																																																0													87	85	85					11																	96104275		2201	4298	6499	SO:0001587	stop_gained	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1111A>T	11.37:g.96104275T>A	ENSP00000278520:p.Lys371*		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Nonsense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	T	40	7.912964	0.98557	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	.	.	.	5.55	1.29	0.21616	.	0.438124	0.24262	N	0.040061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-1.4011	16.1306	0.81436	0.0:0.0:0.2586:0.7414	.	.	.	.	X	371	.	ENSP00000278520:K371X	K	-	1	0	CCDC82	95743923	0.917000	0.31117	0.373000	0.26003	0.864000	0.49448	0.175000	0.16762	-0.028000	0.13850	-0.468000	0.05107	AAA		0.313	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		A	96104275	T	A	96104275	4	1	125	1	0	0	0	0	0	1	0	0	2858	1850	64	5	539	5	CCDC82	11	96104275	Nonsense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	18219106	96104275	38902241	54	7643											
ATM	472	hgsc.bcm.edu;ucsc.edu	37	11	108153496	108153496	+	Silent	SNP	T	T	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr11:108153496T>A	ENST00000452508.2	+	26	3825	c.3636T>A	c.(3634-3636)tcT>tcA	p.S1212S	ATM_ENST00000278616.4_Silent_p.S1212S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1212					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTATGGCATCTCATTTAGATT	0.294			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													90	93	92					11																	108153496		2199	4294	6493	SO:0001819	synonymous_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3636T>A	11.37:g.108153496T>A			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																				0.294	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		A	108153496	T	A	108153496	2	1	125	1	0	0	0	0	0	0	0	1	1109	1538	54	5		5	ATM	11	108153496	Silent	SNP	T	TCGA-B0-4693-01A-01D-1361-10	12049221	108153496	26853020	55	7644											
USP28	57646	hgsc.bcm.edu	37	11	113684670	113684670	+	Missense_Mutation	SNP	C	C	A	rs137875806		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr11:113684670C>A	ENST00000003302.4	-	15	1748	c.1680G>T	c.(1678-1680)aaG>aaT	p.K560N	USP28_ENST00000545540.1_Missense_Mutation_p.K435N|USP28_ENST00000537706.1_Missense_Mutation_p.K560N|USP28_ENST00000260188.5_Missense_Mutation_p.K560N|USP28_ENST00000544967.1_Missense_Mutation_p.K268N	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	560	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAATACAAGTCTTTAAATCTG	0.363																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0								C	ASN/LYS	1,4401	2.1+/-5.4	0,1,2200	77	69	72		1680	4.6	1	11	dbSNP_134	72	0,8592		0,0,4296	no	missense	USP28	NM_020886.2	94	0,1,6496	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	560/1078	113684670	1,12993	2201	4296	6497	SO:0001583	missense	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1680G>T	11.37:g.113684670C>A	ENSP00000003302:p.Lys560Asn		B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194694	0.78902	2.27E-4	0.0	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	T;T;T;T;T;T	0.47869	1.41;1.42;0.83;1.43;0.84;1.74	5.53	4.61	0.57282	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;0.998;1.0	D;D;D;D	0.97110	1.0;0.937;0.978;0.999	T	0.61540	-0.7042	10	0.40728	T	0.16	-27.3398	14.6234	0.68602	0.0:0.929:0.0:0.071	.	435;560;560;268	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	N	560;560;268;435;264;560	ENSP00000003302:K560N;ENSP00000260188:K560N;ENSP00000442431:K268N;ENSP00000444991:K435N;ENSP00000442257:K264N;ENSP00000445743:K560N	ENSP00000003302:K560N	K	-	3	2	USP28	113189880	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.736000	0.55052	2.597000	0.87782	0.462000	0.41574	AAG		0.363	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			A	113684670	C	A	113684670	3	1	125	1	0	0	0	0	1	0	0	0	17063	912	32	4	1597	4	USP28	11	113684670	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10	5531174	113684670	21321846	56	7645											
B4GALNT3	283358	hgsc.bcm.edu;ucsc.edu	37	12	657254	657254	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr12:657254C>A	ENST00000266383.5	+	8	785	c.772C>A	c.(772-774)Cac>Aac	p.H258N	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	258					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGGCACCGACCACGTGGAAGT	0.607																																																0													66	60	62					12																	657254		2203	4300	6503	SO:0001583	missense	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.772C>A	12.37:g.657254C>A	ENSP00000266383:p.His258Asn		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728793	0.89390	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.20738	2.05;2.05	4.97	4.97	0.65823	PA14 (2);	0.218153	0.46758	D	0.000272	T	0.54029	0.1833	M	0.87456	2.885	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.64002	-0.6509	10	0.87932	D	0	-35.3749	18.2337	0.89942	0.0:1.0:0.0:0.0	.	160;258	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	N	258;160	ENSP00000266383:H258N;ENSP00000322953:H160N	ENSP00000266383:H258N	H	+	1	0	B4GALNT3	527515	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.781000	0.75068	2.283000	0.76528	0.561000	0.74099	CAC		0.607	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		A	657254	C	A	657254	3	1	125	1	0	0	0	0	1	0	0	0	1268	594	21	4	802	4	B4GALNT3	12	657254	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10		657254	133194641	57	7646											
PTPRO	5800	hgsc.bcm.edu	37	12	15661567	15661567	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr12:15661567T>G	ENST00000281171.4	+	7	1660	c.1330T>G	c.(1330-1332)Tta>Gta	p.L444V	PTPRO_ENST00000348962.2_Missense_Mutation_p.L444V|PTPRO_ENST00000543886.1_Missense_Mutation_p.L444V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	444	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGTCCACGTTTTAAGCTCAAC	0.512																																																0													101	93	96					12																	15661567		2203	4300	6503	SO:0001583	missense	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1330T>G	12.37:g.15661567T>G	ENSP00000281171:p.Leu444Val		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.363970	0.61513	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T;T	0.54071	0.59;0.59;0.59	5.44	-1.25	0.09405	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.37669	N	0.002000	T	0.52075	0.1712	N	0.19112	0.55	0.80722	D	1	P;D;D	0.76494	0.946;0.957;0.999	P;P;D	0.87578	0.487;0.545;0.998	T	0.42999	-0.9418	10	0.35671	T	0.21	.	12.2912	0.54819	0.0:0.6711:0.0:0.3289	.	444;444;444	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	V	444	ENSP00000281171:L444V;ENSP00000444173:L444V;ENSP00000343434:L444V	ENSP00000281171:L444V	L	+	1	2	PTPRO	15552834	0.713000	0.27926	0.081000	0.20488	0.984000	0.73092	0.131000	0.15870	-0.350000	0.08262	0.533000	0.62120	TTA		0.512	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			G	15661567	T	G	15661567	3	3	125	1	0	0	0	0	1	0	0	0	12815	1838	64	5	1356	5	PTPRO	12	15661567	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	15004313	15661567	118190328	58	7647											
MFSD5	84975	hgsc.bcm.edu	37	12	53647204	53647204	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr12:53647204G>T	ENST00000329548.4	+	2	776	c.585G>T	c.(583-585)tgG>tgT	p.W195C	MFSD5_ENST00000534842.1_Missense_Mutation_p.W302C	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	195					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TAGCCAGCTGGATAGGGCTGG	0.627																																																0													86	88	88					12																	53647204		2203	4300	6503	SO:0001583	missense	84975			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.585G>T	12.37:g.53647204G>T	ENSP00000332624:p.Trp195Cys		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160811	0.38119	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	.	.	.	4.25	4.25	0.50352	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	L	0.49126	1.545	0.80722	D	1	B;B	0.33755	0.424;0.371	B;B	0.35770	0.199;0.21	T	0.56432	-0.7980	9	0.38643	T	0.18	-6.7572	15.5711	0.76337	0.0:0.0:1.0:0.0	.	195;302	Q6N075;G3V1N7	MFSD5_HUMAN;.	C	302;302;302;195	.	ENSP00000331231:W302C	W	+	3	0	MFSD5	51933471	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.235000	0.95353	2.196000	0.70406	0.561000	0.74099	TGG		0.627	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		T	53647204	G	T	53647204	3	4	125	1	0	0	0	0	1	0	0	0	9536	1183	41	4	912	4	MFSD5	12	53647204	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	37985637	53647204	80204691	59	7648											
ITGA5	3678	hgsc.bcm.edu;ucsc.edu	37	12	54798984	54798984	+	Silent	SNP	G	G	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr12:54798984G>T	ENST00000293379.4	-	12	1452	c.1191C>A	c.(1189-1191)acC>acA	p.T397T	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	397					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCCCCAGGGGGGTCAAGGAGC	0.607																																																0													63	67	66					12																	54798984		2203	4300	6503	SO:0001819	synonymous_variant	3678				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1191C>A	12.37:g.54798984G>T			Q96HA5	Silent	SNP	ENST00000293379.4	37	CCDS8880.1																																																																																				0.607	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			T	54798984	G	T	54798984	2	4	125	1	0	0	0	0	0	0	0	1	7881	1219	43	4		4	ITGA5	12	54798984	Silent	SNP	G	TCGA-B0-4693-01A-01D-1361-10	1151780	54798984	79052911	60	7649											
CDK2	1017	hgsc.bcm.edu	37	12	56363324	56363324	+	Silent	SNP	G	G	A	rs201952329		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr12:56363324G>A	ENST00000266970.4	+	5	792	c.552G>A	c.(550-552)gtG>gtA	p.V184V	PMEL_ENST00000360714.4_5'Flank|CDK2_ENST00000440311.2_Intron|PMEL_ENST00000539511.1_5'Flank|PMEL_ENST00000552882.1_5'Flank|CDK2_ENST00000354056.4_Intron|PMEL_ENST00000548747.1_5'Flank|PMEL_ENST00000548689.1_5'Flank|RP11-973D8.4_ENST00000554022.1_RNA|CDK2_ENST00000556656.1_3'UTR|PMEL_ENST00000536427.1_5'Flank|CDK2_ENST00000553376.1_Silent_p.V184V|PMEL_ENST00000548493.1_5'Flank	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	CCACAGCTGTGGACATCTGGA	0.577																																																0													102	90	94					12																	56363324		2203	4300	6503	SO:0001819	synonymous_variant	1017			M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"Cyclin-dependent kinases"	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.552G>A	12.37:g.56363324G>A			A8K7C6|O75100	Silent	SNP	ENST00000266970.4	37	CCDS8898.1																																																																																				0.577	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1			A	56363324	G	A	56363324	2	1	125	1	0	0	0	0	0	0	0	1	3138	1335	47	2		2	CDK2	12	56363324	Silent	SNP	G	TCGA-B0-4693-01A-01D-1361-10	1564340	56363324	77488571	61	7650											
WSCD2	9671	hgsc.bcm.edu;ucsc.edu	37	12	108641973	108641973	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr12:108641973C>A	ENST00000332082.4	+	10	2369	c.1551C>A	c.(1549-1551)aaC>aaA	p.N517K	WSCD2_ENST00000549903.1_Missense_Mutation_p.N537K|WSCD2_ENST00000261400.3_Missense_Mutation_p.N537K|WSCD2_ENST00000547525.1_Missense_Mutation_p.N517K			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	517						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGGATGGCAACTTCAAGCGCT	0.597																																																0													59	67	65					12																	108641973		2044	4206	6250	SO:0001583	missense	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1551C>A	12.37:g.108641973C>A	ENSP00000331933:p.Asn517Lys		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279124	0.59758	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30448	1.53;4.78;1.53;4.78	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	L	0.45698	1.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.25257	-1.0137	10	0.13470	T	0.59	-54.6034	16.1113	0.81266	0.0:1.0:0.0:0.0	.	537;517	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	K	517;537;517;537	ENSP00000448047:N517K;ENSP00000261400:N537K;ENSP00000331933:N517K;ENSP00000447272:N537K	ENSP00000261400:N537K	N	+	3	2	WSCD2	107166103	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.607000	0.61133	2.029000	0.59856	0.655000	0.94253	AAC		0.597	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		A	108641973	C	A	108641973	3	1	125	1	0	0	0	0	1	0	0	0	17412	564	20	4	1581	4	WSCD2	12	108641973	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10	52278649	108641973	25209922	62	7651											
DDX54	79039	hgsc.bcm.edu	37	12	113603616	113603616	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr12:113603616G>A	ENST00000306014.5	-	13	1663	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	DDX54_ENST00000314045.7_Missense_Mutation_p.P546S	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	546					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.P546S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTGAAGAGGGGGTGCAGGCCC	0.642																																																1	Substitution - Missense(1)	skin(1)											36	36	36					12																	113603616		2203	4300	6503	SO:0001583	missense	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1636C>T	12.37:g.113603616G>A	ENSP00000304072:p.Pro546Ser		Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.82|18.82	3.705756|3.705756	0.68615|0.68615	.|.	.|.	ENSG00000123064|ENSG00000123064	ENST00000546898|ENST00000314045;ENST00000306014	.|T;T	.|0.12672	.|2.67;2.66	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.46908|0.46908	0.1417|0.1417	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.993;0.984	T|T	0.60934|0.60934	-0.7164|-0.7164	6|10	.|0.87932	.|D	.|0	.|.	17.1136|17.1136	0.86682|0.86682	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|546;546	.|Q8TDD1-2;Q8TDD1	.|.;DDX54_HUMAN	L|S	21|546	.|ENSP00000323858:P546S;ENSP00000304072:P546S	.|ENSP00000304072:P546S	P|P	-|-	2|1	0|0	DDX54|DDX54	112087999|112087999	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.889000|0.889000	0.51656|0.51656	7.158000|7.158000	0.77470|0.77470	2.354000|2.354000	0.79902|0.79902	0.561000|0.561000	0.74099|0.74099	CCC|CCC		0.642	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		A	113603616	G	A	113603616	3	1	125	1	0	0	0	0	1	0	0	0	4374	1232	43	2	1044	2	DDX54	12	113603616	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	4961643	113603616	20248279	63	7652											
CLIP1	6249	hgsc.bcm.edu;ucsc.edu	37	12	122812834	122812834	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr12:122812834C>G	ENST00000540338.1	-	15	3048	c.3007G>C	c.(3007-3009)Gaa>Caa	p.E1003Q	CLIP1_ENST00000545889.1_Missense_Mutation_p.E578Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.E957Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.E992Q|CLIP1_ENST00000358808.2_Missense_Mutation_p.E992Q|CLIP1_ENST00000361654.4_Missense_Mutation_p.E881Q			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1003					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTCTCCAATTCTTTCTTTTCT	0.453																																																0													309	305	306					12																	122812834		2203	4300	6503	SO:0001583	missense	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3007G>C	12.37:g.122812834C>G	ENSP00000439093:p.Glu1003Gln		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200657	0.38905	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.54866	2.62;0.55;0.55;0.66;0.63	5.25	4.35	0.52113	.	0.460721	0.25714	N	0.028794	T	0.41673	0.1169	L	0.51422	1.61	0.31510	N	0.663688	B;B;B	0.28400	0.21;0.127;0.134	B;B;B	0.29942	0.109;0.109;0.051	T	0.42241	-0.9463	10	0.29301	T	0.29	-5.8324	5.2333	0.15434	0.0:0.716:0.0:0.284	.	957;992;1003	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	Q	578;992;992;722;34;957;1003	ENSP00000438743:E578Q;ENSP00000303585:E992Q;ENSP00000351665:E992Q;ENSP00000445531:E957Q;ENSP00000439093:E1003Q	ENSP00000303585:E992Q	E	-	1	0	CLIP1	121378787	0.784000	0.28713	0.923000	0.36655	0.848000	0.48234	2.517000	0.45529	2.613000	0.88420	0.561000	0.74099	GAA		0.453	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		G	122812834	C	G	122812834	3	3	125	1	0	0	0	0	1	0	0	0	3534	922	32	4	1353	4	CLIP1	12	122812834	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10	9209218	122812834	11039061	64	7653											
SOHLH2	54937	hgsc.bcm.edu	37	13	36767945	36767945	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr13:36767945T>A	ENST00000379881.3	-	3	411	c.323A>T	c.(322-324)aAa>aTa	p.K108I	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.K185I|SOHLH2_ENST00000317764.6_Missense_Mutation_p.K108I|SOHLH2_ENST00000554962.1_Missense_Mutation_p.K185I	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	108					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTACATACCTTTAAAATTTTC	0.264																																																0													51	57	55					13																	36767945		2184	4275	6459	SO:0001583	missense	54937			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.323A>T	13.37:g.36767945T>A	ENSP00000369210:p.Lys108Ile		B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.485407	0.63962	.	.	ENSG00000120669;ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000317764;ENST00000511166	T;T;T;T	0.52983	1.21;1.21;0.64;1.21	5.37	2.84	0.33178	.	0.496323	0.18810	N	0.130559	T	0.40247	0.1109	L	0.27053	0.805	0.34724	D	0.728995	P;P	0.48911	0.917;0.917	P;P	0.49226	0.603;0.603	T	0.52283	-0.8596	10	0.87932	D	0	0.2388	7.5375	0.27719	0.0:0.1755:0.0:0.8245	.	185;108	B4DX90;Q9NX45	.;SOLH2_HUMAN	I	108;185;108;185	ENSP00000369210:K108I;ENSP00000451542:K185I;ENSP00000326838:K108I;ENSP00000421868:K185I	ENSP00000421868:K185I	K	-	2	0	CCDC169-SOHLH2;SOHLH2	35665945	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	0.389000	0.20751	0.390000	0.25115	0.528000	0.53228	AAA		0.264	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		A	36767945	T	A	36767945	3	1	125	1	0	0	0	0	1	0	0	0	14930	1841	64	5	990	5	SOHLH2	13	36767945	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10		36767945	78401933	65	7654											
FOXO1	2308	hgsc.bcm.edu	37	13	41134062	41134062	+	Silent	SNP	A	A	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr13:41134062A>G	ENST00000379561.5	-	2	1950	c.1566T>C	c.(1564-1566)caT>caC	p.H522H	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	522	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CAGGGTGGGTATGGGAGCTGG	0.572																																																0													119	107	111					13																	41134062		2203	4300	6503	SO:0001819	synonymous_variant	2308				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"Forkhead boxes"	3819	protein-coding gene	gene with protein product		136533	"forkhead homolog in rhabdomyosarcoma"	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1566T>C	13.37:g.41134062A>G			O43523|Q5VYC7|Q6NSK6	Silent	SNP	ENST00000379561.5	37	CCDS9371.1																																																																																				0.572	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		G	41134062	A	G	41134062	2	3	125	1	0	0	0	0	0	0	0	1	6025	446	16	3		3	FOXO1	13	41134062	Silent	SNP	A	TCGA-B0-4693-01A-01D-1361-10	4366117	41134062	74035816	66	7655											
SLITRK6	84189	hgsc.bcm.edu;ucsc.edu	37	13	86370165	86370165	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr13:86370165T>G	ENST00000400286.2	-	2	1077	c.479A>C	c.(478-480)aAc>aCc	p.N160T		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	160					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTGAGTCTGTTGAGCTTGCT	0.378																																																0													127	120	122					13																	86370165		1853	4088	5941	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.479A>C	13.37:g.86370165T>G	ENSP00000383143:p.Asn160Thr		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	5.081	0.200646	0.09652	.	.	ENSG00000184564	ENST00000400286	T	0.56941	0.43	6.02	3.51	0.40186	.	0.211764	0.48767	D	0.000176	T	0.22166	0.0534	N	0.05124	-0.11	0.28327	N	0.92197	B	0.10296	0.003	B	0.10450	0.005	T	0.12656	-1.0539	10	0.10902	T	0.67	-6.0567	1.3839	0.02236	0.1421:0.1628:0.1482:0.5469	.	160	Q9H5Y7	SLIK6_HUMAN	T	160	ENSP00000383143:N160T	ENSP00000383143:N160T	N	-	2	0	SLITRK6	85268166	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.441000	0.44864	0.474000	0.27392	-1.100000	0.02121	AAC		0.378	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		G	86370165	T	G	86370165	3	3	125	1	0	0	0	0	1	0	0	0	14753	1725	60	5	2050	5	SLITRK6	13	86370165	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	45236103	86370165	28799713	67	7656											
ADAM21	8747	hgsc.bcm.edu	37	14	70925438	70925438	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr14:70925438C>T	ENST00000603540.1	+	2	1480	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.R408C	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	408	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TATGCTAAAGCGCTGTGGGAA	0.453																																																0													77	75	75					14																	70925438		2203	4300	6503	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1222C>T	14.37:g.70925438C>T	ENSP00000474385:p.Arg408Cys		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318453	0.23994	.	.	ENSG00000139985	ENST00000267499	T	0.01185	5.21	4.2	4.2	0.49525	Blood coagulation inhibitor, Disintegrin (1);	0.317510	0.22250	N	0.062579	T	0.02807	0.0084	M	0.88570	2.965	0.43287	D	0.995267	B	0.31680	0.335	B	0.26693	0.072	T	0.31668	-0.9935	10	0.40728	T	0.16	.	13.0202	0.58781	0.1618:0.8382:0.0:0.0	.	408	Q9UKJ8	ADA21_HUMAN	C	408	ENSP00000267499:R408C	ENSP00000267499:R408C	R	+	1	0	ADAM21	69995191	0.000000	0.05858	0.994000	0.49952	0.062000	0.15995	0.251000	0.18257	2.320000	0.78422	0.557000	0.71058	CGC		0.453	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			T	70925438	C	T	70925438	3	4	125	1	0	0	0	0	1	0	0	0	243	768	27	1	1224	1	ADAM21	14	70925438	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10		70925438	36424102	68	7657											
SORD	6652	hgsc.bcm.edu	37	15	45364534	45364534	+	Missense_Mutation	SNP	A	A	C	rs930337		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr15:45364534A>C	ENST00000267814.9	+	8	986	c.806A>C	c.(805-807)aAc>aCc	p.N269T	SORD_ENST00000558580.1_Missense_Mutation_p.N248T|SORD_ENST00000559562.1_3'UTR|RP11-109D20.2_ENST00000560967.1_RNA	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	269			N -> T (in dbSNP:rs2229659). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7782086, ECO:0000269|PubMed:8088829, ECO:0000269|PubMed:9183016}.		fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TCTGGTGGGAACCTCGTGCTT	0.498																																																0													51	22	36					15																	45364534		1900	1995	3895	SO:0001583	missense	6652				CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.806A>C	15.37:g.45364534A>C	ENSP00000267814:p.Asn269Thr		B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Missense_Mutation	SNP	ENST00000267814.9	37	CCDS10116.1	1586	0.7261904761904762	198	0.4024390243902439	307	0.8480662983425414	465	0.8129370629370629	616	0.8126649076517151	C	0.578	-0.838147	0.02692	.	.	ENSG00000140263	ENST00000267814	T	0.03553	3.89	5.05	4.12	0.48240	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.460627	0.24815	N	0.035375	T	0.00012	0.0000	N	0.00057	-2.355	0.54753	P	1.7000000000044757E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.22243	-1.0222	9	0.02654	T	1	-9.2822	9.4171	0.38528	0.1417:0.7818:0.0:0.0765	rs2229659;rs11542061	269	Q00796	DHSO_HUMAN	T	269	ENSP00000267814:N269T	ENSP00000267814:N269T	N	+	2	0	SORD	43151826	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	3.049000	0.49869	1.152000	0.42452	-0.352000	0.07741	AAC		0.498	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			C	45364534	A	C	45364534	3	2	125	1	0	0	0	0	1	0	0	0	14939	43	2	5	836	5	SORD	15	45364534	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10		45364534	57166858	69	7658											
NOMO2	283820	hgsc.bcm.edu	37	16	18544484	18544484	+	Missense_Mutation	SNP	C	C	T	rs453341		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr16:18544484C>T	ENST00000381474.3	-	12	1303	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	NOMO2_ENST00000543392.1_Missense_Mutation_p.R246Q|NOMO2_ENST00000330537.6_Missense_Mutation_p.R413Q	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	413						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GATTGATATCCGACCACAGAC	0.458																																																0													267	198	221					16																	18544484		2197	4300	6497	SO:0001583	missense	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1238G>A	16.37:g.18544484C>T	ENSP00000370883:p.Arg413Gln		Q4G177	Missense_Mutation	SNP	ENST00000381474.3	37	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	4.295	0.053887	0.08291	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.03831	3.83;3.79;3.81	2.75	2.75	0.32379	.	0.356515	0.29246	N	0.012704	T	0.01320	0.0043	N	0.00707	-1.245	0.09310	N	0.999998	B;B	0.10296	0.001;0.003	B;B	0.04013	0.0;0.001	T	0.47611	-0.9104	10	0.08599	T	0.76	-3.6137	7.2027	0.25889	0.0:0.1143:0.0:0.8857	.	246;413	Q4G177;Q5JPE7	.;NOMO2_HUMAN	Q	413;413;246	ENSP00000331851:R413Q;ENSP00000370883:R413Q;ENSP00000439970:R246Q	ENSP00000331851:R413Q	R	-	2	0	NOMO2	18451985	1.000000	0.71417	0.855000	0.33649	0.886000	0.51366	1.754000	0.38369	0.271000	0.22005	-0.556000	0.04195	CGG		0.458	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		T	18544484	C	T	18544484	3	4	125	1	0	0	0	0	1	0	0	0	10534	652	23	1	2653	1	NOMO2	16	18544484	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10		18544484	71810269	70	7659											
N4BP1	9683	hgsc.bcm.edu;ucsc.edu	37	16	48596217	48596217	+	Silent	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr16:48596217G>A	ENST00000262384.3	-	2	573	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	113					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CCAATGTCCAGAATGCAGAGG	0.443																																																0													60	63	62					16																	48596217		1979	4162	6141	SO:0001819	synonymous_variant	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.337C>T	16.37:g.48596217G>A			A7MD49|Q2YDX1	Silent	SNP	ENST00000262384.3	37	CCDS45479.1																																																																																				0.443	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		A	48596217	G	A	48596217	2	1	125	1	0	0	0	0	0	0	0	1	10111	933	33	2		2	N4BP1	16	48596217	Silent	SNP	G	TCGA-B0-4693-01A-01D-1361-10	30051733	48596217	41758536	71	7660											
NUP93	9688	hgsc.bcm.edu;ucsc.edu	37	16	56871614	56871614	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr16:56871614A>C	ENST00000308159.5	+	18	2115	c.1994A>C	c.(1993-1995)aAc>aCc	p.N665T	NUP93_ENST00000569842.1_Missense_Mutation_p.N665T|NUP93_ENST00000542526.1_Missense_Mutation_p.N542T|NUP93_ENST00000564887.1_Missense_Mutation_p.N542T	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	665					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGGCTGAAGAACATGGCACTC	0.587																																					Colon(33;610 796 1305 1705 38917)											0													67	57	60					16																	56871614		2198	4300	6498	SO:0001583	missense	9688			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1994A>C	16.37:g.56871614A>C	ENSP00000310668:p.Asn665Thr		B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.871872	0.51695	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.42513	0.97;0.97	5.76	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	L	0.59436	1.845	0.58432	D	0.999998	P	0.39094	0.659	B	0.38225	0.268	T	0.11470	-1.0586	10	0.14656	T	0.56	-23.938	11.9215	0.52795	0.932:0.0:0.068:0.0	.	665	Q8N1F7	NUP93_HUMAN	T	665;542	ENSP00000310668:N665T;ENSP00000440235:N542T	ENSP00000310668:N665T	N	+	2	0	NUP93	55429115	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.091000	0.76923	1.111000	0.41721	0.533000	0.62120	AAC		0.587	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		C	56871614	A	C	56871614	3	2	125	1	0	0	0	0	1	0	0	0	10774	43	2	5	2060	5	NUP93	16	56871614	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10	8275397	56871614	33483139	72	7661											
TCF25	22980	hgsc.bcm.edu	37	16	89977623	89977623	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr16:89977623G>A	ENST00000263346.8	+	18	2064	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_5'Flank|TCF25_ENST00000263347.7_Silent_p.*474*	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	670					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GGACGACGCTGAGGGGGAGGG	0.622																																																0													45	46	46					16																	89977623		2195	4295	6490	SO:0001583	missense	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.2008G>A	16.37:g.89977623G>A	ENSP00000263346:p.Glu670Lys		Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724080	0.48728	.	.	ENSG00000141002	ENST00000263346	.	.	.	5.35	5.35	0.76521	.	0.408692	0.27886	N	0.017448	T	0.48466	0.1501	L	0.34521	1.04	0.80722	D	1	B	0.32717	0.381	B	0.30029	0.11	T	0.52983	-0.8502	9	0.66056	D	0.02	.	16.2201	0.82254	0.0:0.0:1.0:0.0	.	670	Q9BQ70	TCF25_HUMAN	K	670	.	ENSP00000263346:E670K	E	+	1	0	TCF25	88505124	0.952000	0.32445	0.950000	0.38849	0.086000	0.17979	2.212000	0.42835	2.497000	0.84241	0.655000	0.94253	GAG		0.622	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		A	89977623	G	A	89977623	3	1	125	1	0	0	0	0	1	0	0	0	15698	1291	45	2	2078	2	TCF25	16	89977623	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	33106009	89977623	377130	73	7662											
USP6	9098	hgsc.bcm.edu;ucsc.edu	37	17	5048736	5048736	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr17:5048736A>G	ENST00000574788.1	+	27	4259	c.2029A>G	c.(2029-2031)Att>Gtt	p.I677V	USP6_ENST00000332776.4_Missense_Mutation_p.I677V|USP6_ENST00000304328.5_Missense_Mutation_p.I360V|USP6_ENST00000250066.6_Missense_Mutation_p.I677V			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	677	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TAGATCAATTATTGTGGATTT	0.358			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													121	112	115					17																	5048736		2203	4300	6503	SO:0001583	missense	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2029A>G	17.37:g.5048736A>G	ENSP00000460380:p.Ile677Val		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	a	2.594	-0.294431	0.05568	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.32515	1.45;1.45;1.45	2.36	1.36	0.22044	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.106325	0.64402	N	0.000005	T	0.11707	0.0285	N	0.05306	-0.075	0.26704	N	0.971101	B;B	0.02656	0.0;0.0	B;B	0.09377	0.0;0.004	T	0.29852	-0.9998	10	0.14252	T	0.57	.	7.1998	0.25874	0.1495:0.0:0.8505:0.0	.	360;677	P35125-2;P35125	.;UBP6_HUMAN	V	677;677;360	ENSP00000328010:I677V;ENSP00000250066:I677V;ENSP00000305473:I360V	ENSP00000250066:I677V	I	+	1	0	USP6	4989460	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.638000	0.61353	0.320000	0.23234	-1.355000	0.01225	ATT		0.358	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		G	5048736	A	G	5048736	3	3	125	1	0	0	0	0	1	0	0	0	17091	449	16	3	2099	3	USP6	17	5048736	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10		5048736	76146474	74	7663											
TXNDC17	84817	hgsc.bcm.edu;ucsc.edu	37	17	6545596	6545596	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr17:6545596A>C	ENST00000250101.5	+	3	580	c.255A>C	c.(253-255)agA>agC	p.R85S	TXNDC17_ENST00000577146.1_3'UTR|TXNDC17_ENST00000570330.1_Missense_Mutation_p.R60S|TXNDC17_ENST00000574838.1_Intron|KIAA0753_ENST00000361413.3_5'Flank|KIAA0753_ENST00000572370.1_5'Flank	NM_032731.3	NP_116120.1	Q9BRA2	TXD17_HUMAN	thioredoxin domain containing 17	85	Thioredoxin.				oxidation-reduction process (GO:0055114)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|peroxidase activity (GO:0004601)|protein-disulfide reductase activity (GO:0047134)			endometrium(1)|kidney(1)|ovary(1)	3						ATGACTTCAGAAAAAACTTGA	0.308																																																0													60	63	62					17																	6545596		2203	4300	6503	SO:0001583	missense	84817			BC006405	CCDS11077.1	17p13.2	2007-08-16	2007-08-16	2007-08-16	ENSG00000129235	ENSG00000129235			28218	protein-coding gene	gene with protein product	"thioredoxin (Trx)-related protein, 14 kDa"		"thioredoxin-like 5"	TXNL5		14607844, 14607843	Standard	NM_032731		Approved	MGC14353, TRP14	uc002gdf.4	Q9BRA2	OTTHUMG00000102053	ENST00000250101.5:c.255A>C	17.37:g.6545596A>C	ENSP00000250101:p.Arg85Ser		A8K7E8	Missense_Mutation	SNP	ENST00000250101.5	37	CCDS11077.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821998	0.50739	.	.	ENSG00000129235	ENST00000250101	.	.	.	5.48	-0.667	0.11395	Thioredoxin-like fold (2);	0.148027	0.64402	D	0.000014	T	0.76521	0.3999	M	0.91972	3.26	0.80722	D	1	D	0.61080	0.989	P	0.58331	0.837	T	0.79115	-0.1936	9	0.87932	D	0	-22.9809	10.6548	0.45669	0.4865:0.0:0.5135:0.0	.	85	Q9BRA2	TXD17_HUMAN	S	85	.	ENSP00000250101:R85S	R	+	3	2	TXNDC17	6486320	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	1.000000	0.29770	-0.090000	0.12462	-0.256000	0.11100	AGA		0.308	TXNDC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219854.2	NM_032731		C	6545596	A	C	6545596	3	2	125	1	0	0	0	0	1	0	0	0	16801	243	9	5	265	5	TXNDC17	17	6545596	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10	1496860	6545596	74649614	75	7664											
STARD3	10948	hgsc.bcm.edu;ucsc.edu	37	17	37816464	37816464	+	Splice_Site	SNP	G	G	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr17:37816464G>T	ENST00000336308.5	+	10	1014	c.796G>T	c.(796-798)Gaa>Taa	p.E266*	STARD3_ENST00000544210.2_Splice_Site_p.E266*|STARD3_ENST00000394250.4_Splice_Site_p.E248*|STARD3_ENST00000580611.1_Splice_Site_p.E240*	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	266	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTGCCATAGGAATATGGGGA	0.577																																																0													95	78	84					17																	37816464		2203	4300	6503	SO:0001630	splice_region_variant	10948				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.796-1G>T	17.37:g.37816464G>T			A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Nonsense_Mutation	SNP	ENST00000336308.5	37	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	40	7.996710	0.98602	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	.	.	.	5.44	5.44	0.79542	.	0.209164	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2557	0.93945	0.0:0.0:1.0:0.0	.	.	.	.	X	266;266;248	.	.	E	+	1	0	STARD3	35069990	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.073000	0.93992	2.577000	0.86979	0.561000	0.74099	GAA		0.577	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1		Nonsense_Mutation	T	37816464	G	T	37816464	5	4	125	1	0	0	0	0	0	0	1	0	15262	1188	41	4	843	4	STARD3	17	37816464	Splice_Site	SNP	G	TCGA-B0-4693-01A-01D-1361-10	31270868	37816464	43378746	76	7665											
DHX40	79665	hgsc.bcm.edu	37	17	57656854	57656854	+	Silent	SNP	C	C	T	rs375795771		TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr17:57656854C>T	ENST00000251241.4	+	9	1242	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	DHX40_ENST00000451169.2_Silent_p.F317F|DHX40_ENST00000425628.3_Silent_p.F288F	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	365	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGGTGGCTTCGTGAAGCAGT	0.358																																																0													38	57	53					17																	57656854		984	4080	5064	SO:0001819	synonymous_variant	79665			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"DEAH-boxes"	18018	protein-coding gene	gene with protein product		607570	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1095C>T	17.37:g.57656854C>T			B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Silent	SNP	ENST00000251241.4	37	CCDS11617.1																																																																																				0.358	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		T	57656854	C	T	57656854	2	4	125	1	0	0	0	0	0	0	0	1	4514	883	31	1		1	DHX40	17	57656854	Silent	SNP	C	TCGA-B0-4693-01A-01D-1361-10	19840390	57656854	23538356	77	7666											
TLK2	11011	hgsc.bcm.edu	37	17	60689867	60689867	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr17:60689867C>A	ENST00000326270.9	+	23	2528	c.2260C>A	c.(2260-2262)Cct>Act	p.P754T	TLK2_ENST00000542523.1_Missense_Mutation_p.P700T|TLK2_ENST00000343388.7_Missense_Mutation_p.P700T|TLK2_ENST00000346027.5_Missense_Mutation_p.P732T|TLK2_ENST00000582809.1_Missense_Mutation_p.P583T	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	754					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TACAAGTAGCCCTGCTGGAGC	0.502																																																0													95	80	85					17																	60689867		2203	4300	6503	SO:0001583	missense	11011			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2260C>A	17.37:g.60689867C>A	ENSP00000316512:p.Pro754Thr		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37		.	.	.	.	.	.	.	.	.	.	C	0.478	-0.881015	0.02530	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.64991	-0.11;-0.13;-0.12;-0.13	5.83	4.85	0.62838	Protein kinase-like domain (1);	0.380247	0.32244	N	0.006371	T	0.41926	0.1180	N	0.08118	0	0.48632	D	0.999684	B;B;B;B	0.24426	0.063;0.103;0.103;0.02	B;B;B;B	0.28011	0.039;0.085;0.085;0.016	T	0.29971	-0.9994	10	0.16420	T	0.52	.	14.4435	0.67333	0.0:0.9284:0.0:0.0716	.	754;700;732;732	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	T	732;700;754;700	ENSP00000275780:P732T;ENSP00000340800:P700T;ENSP00000316512:P754T;ENSP00000442311:P700T	ENSP00000316512:P754T	P	+	1	0	TLK2	58043599	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.975000	0.56859	2.763000	0.94921	0.561000	0.74099	CCT		0.502	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		A	60689867	C	A	60689867	3	1	125	1	0	0	0	0	1	0	0	0	15949	623	22	4	2276	4	TLK2	17	60689867	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10	3033013	60689867	20505343	78	7667											
CD300E	342510	hgsc.bcm.edu	37	17	72619748	72619748	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr17:72619748G>A	ENST00000328630.3	-	1	53	c.13C>T	c.(13-15)Cca>Tca	p.P5S	CD300E_ENST00000392619.1_Missense_Mutation_p.P32S|CD300E_ENST00000426295.2_Missense_Mutation_p.P46S			Q496F6	CLM2_HUMAN	CD300e molecule	5					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AGTAGAGCTGGGAGCAGCCAC	0.552																																																0													126	118	121					17																	72619748		2203	4300	6503	SO:0001583	missense	342510			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	28874	protein-coding gene	gene with protein product		609801	"CD300 antigen like family member E", "CD300e antigen"	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.13C>T	17.37:g.72619748G>A	ENSP00000329942:p.Pro5Ser		B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	G	0.137	-1.107083	0.01813	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630	T;T;T	0.03301	4.0;3.98;4.03	3.87	-4.37	0.03633	Immunoglobulin-like (1);	2.834750	0.01394	N	0.013347	T	0.02193	0.0068	N	0.16478	0.41	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.42413	-0.9453	10	0.15499	T	0.54	3.4174	2.2993	0.04158	0.2009:0.4314:0.2221:0.1457	.	5	Q496F6	CLM2_HUMAN	S	32;46;5	ENSP00000376395:P32S;ENSP00000416642:P46S;ENSP00000329942:P5S	ENSP00000329942:P5S	P	-	1	0	CD300E	70131343	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.102000	0.15272	-0.529000	0.06358	0.436000	0.28706	CCA		0.552	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		A	72619748	G	A	72619748	3	1	125	1	0	0	0	0	1	0	0	0	3000	1232	43	2	620	2	CD300E	17	72619748	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10	11929881	72619748	8575462	79	7668											
HEXDC	284004	hgsc.bcm.edu	37	17	80399717	80399717	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr17:80399717A>C	ENST00000327949.9	+	11	1216	c.1205A>C	c.(1204-1206)aAg>aCg	p.K402T	HEXDC_ENST00000337014.6_Missense_Mutation_p.S432R|HEXDC_ENST00000577944.1_Missense_Mutation_p.E404D			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	402					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGCCAGCGGAAGCTCATCCAC	0.642																																																0													83	93	90					17																	80399717		2029	4184	6213	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1205A>C	17.37:g.80399717A>C	ENSP00000332634:p.Lys402Thr		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.51|14.51	2.557942|2.557942	0.45590|0.45590	.|.	.|.	ENSG00000169660|ENSG00000169660	ENST00000327949|ENST00000337014	T|T	0.32272|0.38560	1.46|1.13	5.48|5.48	4.4|4.4	0.53042|0.53042	.|.	.|0.776291	.|0.10967	.|N	.|0.614345	T|T	0.31544|0.31544	0.0800|0.0800	.|.	.|.	.|.	0.34234|0.34234	D|D	0.676872|0.676872	D|B	0.59767|0.21606	0.986|0.058	P|B	0.55455|0.15484	0.776|0.013	T|T	0.29427|0.29427	-1.0012|-1.0012	8|9	0.22706|0.29301	T|T	0.39|0.29	-10.0078|-10.0078	10.4151|10.4151	0.44316|0.44316	0.9238:0.0:0.0762:0.0|0.9238:0.0:0.0762:0.0	.|.	402|432	Q8WVB3|Q8WVB3-2	HEXDC_HUMAN|.	T|R	402|432	ENSP00000332634:K402T|ENSP00000337854:S432R	ENSP00000332634:K402T|ENSP00000337854:S432R	K|S	+|+	2|1	0|0	HEXDC|HEXDC	77993006|77993006	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	2.650000|2.650000	0.46665|0.46665	0.927000|0.927000	0.37143|0.37143	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.642	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		C	80399717	A	C	80399717	3	2	125	1	0	0	0	0	1	0	0	0	7077	72	3	5	1332	5	HEXDC	17	80399717	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10	7779969	80399717	795493	80	7669											
CLUL1	27098	hgsc.bcm.edu	37	18	644931	644931	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr18:644931G>C	ENST00000400606.2	+	8	1376	c.1231G>C	c.(1231-1233)Gga>Cga	p.G411R	C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000540035.1_Missense_Mutation_p.G463R|CLUL1_ENST00000581619.1_Missense_Mutation_p.G436R|CLUL1_ENST00000338387.7_Missense_Mutation_p.G411R|CLUL1_ENST00000579494.1_Missense_Mutation_p.G411R	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	411					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GATTCATGAAGGAAATATTTC	0.353																																																0													89	83	85					18																	644931		1843	4101	5944	SO:0001583	missense	27098			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1231G>C	18.37:g.644931G>C	ENSP00000383449:p.Gly411Arg		A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	G	5.685	0.310943	0.10733	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.26067	1.76;1.76;1.76	4.87	3.96	0.45880	Clusterin, C-terminal (1);	0.471068	0.23692	N	0.045513	T	0.25717	0.0626	M	0.64997	1.995	0.49299	D	0.999777	B;B	0.27679	0.185;0.09	B;B	0.29716	0.106;0.105	T	0.05289	-1.0894	10	0.41790	T	0.15	-2.791	7.6923	0.28575	0.2087:0.0:0.7913:0.0	.	463;411	F5GWQ8;Q15846	.;CLUL1_HUMAN	R	411;463;411	ENSP00000383449:G411R;ENSP00000441726:G463R;ENSP00000341128:G411R	ENSP00000341128:G411R	G	+	1	0	CLUL1	634931	1.000000	0.71417	0.370000	0.25965	0.124000	0.20399	2.233000	0.43027	1.196000	0.43129	0.591000	0.81541	GGA		0.353	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			C	644931	G	C	644931	3	2	125	1	0	0	0	0	1	0	0	0	3572	1001	35	4	1257	4	CLUL1	18	644931	Missense_Mutation	SNP	G	TCGA-B0-4693-01A-01D-1361-10		644931	77432317	81	7670											
CABYR	26256	hgsc.bcm.edu	37	18	21735912	21735912	+	Silent	SNP	T	T	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr18:21735912T>A	ENST00000399496.3	+	4	612	c.447T>A	c.(445-447)acT>acA	p.T149T	CABYR_ENST00000581397.1_Silent_p.T149T|CABYR_ENST00000415309.2_Silent_p.T149T|CABYR_ENST00000327201.6_Silent_p.T51T|CABYR_ENST00000399481.2_Silent_p.T51T|CABYR_ENST00000399499.1_Silent_p.T149T	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	149					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CCCCTAAGACTACTACCCCAC	0.527																																																0													130	96	107					18																	21735912		2203	4300	6503	SO:0001819	synonymous_variant	26256			AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"fibrousheathin 2", "cancer/testis antigen 88"	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.447T>A	18.37:g.21735912T>A			B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Silent	SNP	ENST00000399496.3	37	CCDS42420.1																																																																																				0.527	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090926.2	NM_153770		A	21735912	T	A	21735912	2	1	125	1	0	0	0	0	0	0	0	1	2538	1509	53	5		5	CABYR	18	21735912	Silent	SNP	T	TCGA-B0-4693-01A-01D-1361-10	21090981	21735912	56341336	82	7671											
MOCOS	55034	hgsc.bcm.edu	37	18	33848526	33848526	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr18:33848526T>C	ENST00000261326.5	+	15	2566	c.2545T>C	c.(2545-2547)Tca>Cca	p.S849P		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATGCATGCATCATTGGATTT	0.383																																																0													283	243	257					18																	33848526		2203	4300	6503	SO:0001583	missense	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2545T>C	18.37:g.33848526T>C	ENSP00000261326:p.Ser849Pro			Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	T	1.929	-0.446442	0.04604	.	.	ENSG00000075643	ENST00000261326	T	0.36157	1.27	5.74	1.99	0.26369	Molybdenum cofactor sulfurase, C-terminal (2);	0.621040	0.18182	N	0.149116	T	0.20007	0.0481	N	0.20401	0.57	0.09310	N	1	B	0.15930	0.015	B	0.18561	0.022	T	0.17440	-1.0369	10	0.26408	T	0.33	-8.2516	6.5426	0.22388	0.0:0.0818:0.3211:0.5972	.	849	Q96EN8	MOCOS_HUMAN	P	849	ENSP00000261326:S849P	ENSP00000261326:S849P	S	+	1	0	MOCOS	32102524	0.000000	0.05858	0.025000	0.17156	0.002000	0.02628	-0.138000	0.10374	0.517000	0.28361	0.529000	0.55759	TCA		0.383	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			C	33848526	T	C	33848526	3	2	125	1	0	0	0	0	1	0	0	0	9691	1435	50	3	2603	3	MOCOS	18	33848526	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	12112614	33848526	44228722	83	7672											
FAM69C	125704	hgsc.bcm.edu	37	18	72103854	72103854	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr18:72103854T>A	ENST00000343998.6	-	4	1150	c.1142A>T	c.(1141-1143)gAa>gTa	p.E381V	FAM69C_ENST00000400291.2_Missense_Mutation_p.E82V	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	381						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						GTCTGCACATTCCTGCACCGC	0.577																																																0													28	32	30					18																	72103854		1901	4123	6024	SO:0001583	missense	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"chromosome 18 open reading frame 51"	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.1142A>T	18.37:g.72103854T>A	ENSP00000344331:p.Glu381Val			Missense_Mutation	SNP	ENST00000343998.6	37	CCDS42445.2	.	.	.	.	.	.	.	.	.	.	T	16.00	2.999565	0.54147	.	.	ENSG00000187773	ENST00000400291;ENST00000343998	.	.	.	4.95	3.79	0.43588	.	0.176546	0.48767	D	0.000165	T	0.68860	0.3047	M	0.64997	1.995	0.51482	D	0.999925	D	0.76494	0.999	D	0.66716	0.946	T	0.71461	-0.4586	9	0.66056	D	0.02	-11.1855	10.3096	0.43702	0.0:0.0782:0.0:0.9218	.	381	Q0P6D2	FA69C_HUMAN	V	82;381	.	ENSP00000344331:E381V	E	-	2	0	FAM69C	70254834	0.989000	0.36119	0.460000	0.27093	0.161000	0.22273	2.681000	0.46926	2.011000	0.59026	0.456000	0.33151	GAA		0.577	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346971.2	XM_058931		A	72103854	T	A	72103854	3	1	125	1	0	0	0	0	1	0	0	0	5606	1783	62	5	121	5	FAM69C	18	72103854	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	38255328	72103854	5973394	84	7673											
ZFR2	23217	hgsc.bcm.edu	37	19	3833722	3833722	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr19:3833722A>T	ENST00000262961.4	-	3	329	c.319T>A	c.(319-321)Tac>Aac	p.Y107N	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	107							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GACTGGAAGTACGGCCTGTCC	0.627																																																0													38	46	43					19																	3833722		2198	4294	6492	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.319T>A	19.37:g.3833722A>T	ENSP00000262961:p.Tyr107Asn			Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	A	9.541	1.113345	0.20795	.	.	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.18960	2.99;2.18	3.03	-4.06	0.03986	.	0.840574	0.10362	U	0.683940	T	0.14098	0.0341	L	0.46157	1.445	0.09310	N	0.999999	P	0.35011	0.48	B	0.28553	0.091	T	0.08066	-1.0740	10	0.72032	D	0.01	1.1747	6.903	0.24293	0.2822:0.6018:0.116:0.0	.	107	Q9UPR6	ZFR2_HUMAN	N	107	ENSP00000262961:Y107N;ENSP00000388974:Y107N	ENSP00000262961:Y107N	Y	-	1	0	ZFR2	3784722	0.047000	0.20315	0.000000	0.03702	0.001000	0.01503	0.807000	0.27140	-1.149000	0.02843	-0.558000	0.04189	TAC		0.627	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		T	3833722	A	T	3833722	3	4	125	1	0	0	0	0	1	0	0	0	17665	391	14	5	2568	5	ZFR2	19	3833722	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10		3833722	55295261	85	7674											
RANBP3	8498	hgsc.bcm.edu	37	19	5923257	5923257	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr19:5923257A>C	ENST00000340578.6	-	13	1214	c.1157T>G	c.(1156-1158)tTg>tGg	p.L386W	RANBP3_ENST00000591092.1_Missense_Mutation_p.L313W|RANBP3_ENST00000439268.2_Missense_Mutation_p.L381W|RANBP3_ENST00000034275.8_Missense_Mutation_p.L318W|RANBP3_ENST00000541471.1_Missense_Mutation_p.L258W	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	386	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CACTTTTTCCAACAAACACTT	0.567																																																0													118	122	121					19																	5923257		1966	4154	6120	SO:0001583	missense	8498			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1157T>G	19.37:g.5923257A>C	ENSP00000341483:p.Leu386Trp		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650326	0.87958	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.41400	1.02;1.01;1.76;1.0	5.59	5.59	0.84812	Pleckstrin homology-type (1);Ran binding protein 1 (2);	0.000000	0.64402	D	0.000001	T	0.72890	0.3517	H	0.94306	3.52	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;1.0;1.0;1.0;1.0;1.0	T	0.79325	-0.1850	10	0.46703	T	0.11	-12.854	13.7176	0.62708	1.0:0.0:0.0:0.0	.	258;381;258;313;318;381;386	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	W	386;381;318;317;258	ENSP00000341483:L386W;ENSP00000404837:L381W;ENSP00000034275:L318W;ENSP00000445071:L258W	ENSP00000034275:L318W	L	-	2	0	RANBP3	5874257	1.000000	0.71417	0.471000	0.27229	0.982000	0.71751	8.850000	0.92190	2.133000	0.65898	0.379000	0.24179	TTG		0.567	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		C	5923257	A	C	5923257	3	2	125	1	0	0	0	0	1	0	0	0	13035	131	5	5	566	5	RANBP3	19	5923257	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10	2089535	5923257	53205726	86	7675											
TRIP10	9322	hgsc.bcm.edu	37	19	6744909	6744909	+	Silent	SNP	C	C	T	rs62125119	byFrequency	TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr19:6744909C>T	ENST00000313244.9	+	9	923	c.888C>T	c.(886-888)tcC>tcT	p.S296S	TRIP10_ENST00000596758.1_Silent_p.S296S|TRIP10_ENST00000600428.1_Silent_p.S188S|TRIP10_ENST00000313285.8_Silent_p.S296S			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	296	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GTGCACCCTCCGACAGCAGTC	0.632													C|||	69	0.013778	0.0	0.0159	5008	,	,		16150	0.006		0.0278	False		,,,				2504	0.0245															0								C		26,4380	32.6+/-62.9	0,26,2177	60	60	60		888	-10.6	0.2	19	dbSNP_129	60	183,8417	82.0+/-144.6	4,175,4121	no	coding-synonymous	TRIP10	NM_004240.2		4,201,6298	TT,TC,CC		2.1279,0.5901,1.607		296/546	6744909	209,12797	2203	4300	6503	SO:0001819	synonymous_variant	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.888C>T	19.37:g.6744909C>T			B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37																																																																																					0.632	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			T	6744909	C	T	6744909	2	4	125	1	0	0	0	0	0	0	0	1	16559	639	23	1		1	TRIP10	19	6744909	Silent	SNP	C	TCGA-B0-4693-01A-01D-1361-10	821652	6744909	52384074	87	7676											
BEST2	54831	hgsc.bcm.edu	37	19	12867047	12867047	+	Silent	SNP	C	C	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr19:12867047C>T	ENST00000549706.1	+	9	1365	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	BEST2_ENST00000553030.1_Silent_p.Y347Y|BEST2_ENST00000042931.1_Silent_p.Y347Y			Q8NFU1	BEST2_HUMAN	bestrophin 2	347					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCGCCCCATACACAGCGGCTA	0.627																																																0													116	123	121					19																	12867047		2101	4224	6325	SO:0001819	synonymous_variant	54831			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.1041C>T	19.37:g.12867047C>T			Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	C	0.310	-0.968129	0.02232	.	.	ENSG00000039987	ENST00000552539	.	.	.	4.03	1.79	0.24919	.	.	.	.	.	T	0.58395	0.2119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54529	-0.8280	4	.	.	.	-13.2136	9.5861	0.39517	0.0:0.8126:0.0:0.1874	.	.	.	.	I	57	.	.	T	+	2	0	BEST2	12728047	1.000000	0.71417	0.995000	0.50966	0.009000	0.06853	3.102000	0.50291	0.907000	0.36646	0.491000	0.48974	ACA		0.627	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		T	12867047	C	T	12867047	2	4	125	1	0	0	0	0	0	0	0	1	1405	489	17	2		2	BEST2	19	12867047	Silent	SNP	C	TCGA-B0-4693-01A-01D-1361-10	6122138	12867047	46261936	88	7677											
KPTN	11133	hgsc.bcm.edu	37	19	47980067	47980067	+	Missense_Mutation	SNP	T	T	C	rs200822662	byFrequency	TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr19:47980067T>C	ENST00000338134.3	-	10	1099	c.992A>G	c.(991-993)tAt>tGt	p.Y331C	KPTN_ENST00000536339.1_Missense_Mutation_p.Y91C	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	331					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CACCTGTCCATAGGTGGCCAC	0.617																																																0													21	26	24					19																	47980067		2009	4167	6176	SO:0001583	missense	11133			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"kaptin (actin-binding protein)"			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.992A>G	19.37:g.47980067T>C	ENSP00000337850:p.Tyr331Cys		B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	37	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171908	0.78452	.	.	ENSG00000118162	ENST00000338134;ENST00000536339	T;T	0.51574	0.7;1.94	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.71517	0.3349	M	0.84683	2.71	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77151	-0.2693	10	0.87932	D	0	-21.9126	14.1924	0.65646	0.0:0.0:0.0:1.0	.	331	Q9Y664	KPTN_HUMAN	C	331;91	ENSP00000337850:Y331C;ENSP00000442579:Y91C	ENSP00000337850:Y331C	Y	-	2	0	KPTN	52671879	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.976000	0.76135	1.984000	0.57885	0.459000	0.35465	TAT		0.617	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			C	47980067	T	C	47980067	3	2	125	1	0	0	0	0	1	0	0	0	8439	1406	49	3	330	3	KPTN	19	47980067	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10	35113020	47980067	11148916	89	7678											
RASIP1	54922	hgsc.bcm.edu	37	19	49224073	49224073	+	Silent	SNP	G	G	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr19:49224073G>C	ENST00000222145.4	-	12	3078	c.2874C>G	c.(2872-2874)ccC>ccG	p.P958P	MAMSTR_ENST00000377367.3_5'Flank|MAMSTR_ENST00000318083.6_5'Flank|MAMSTR_ENST00000419611.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	958					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		ACGTGGCCACGGGAGGCCCAT	0.602																																																0													97	101	100					19																	49224073		2203	4300	6503	SO:0001819	synonymous_variant	54922			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2874C>G	19.37:g.49224073G>C			Q6U676	Silent	SNP	ENST00000222145.4	37	CCDS12731.1																																																																																				0.602	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		C	49224073	G	C	49224073	2	2	125	1	0	0	0	0	0	0	0	1	13084	1103	39	4		4	RASIP1	19	49224073	Silent	SNP	G	TCGA-B0-4693-01A-01D-1361-10	1244006	49224073	9904910	90	7679											
PYGB	5834	hgsc.bcm.edu;ucsc.edu	37	20	25260932	25260932	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr20:25260932T>C	ENST00000216962.4	+	10	1233	c.1123T>C	c.(1123-1125)Tac>Cac	p.Y375H		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	375					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GACCTGTGCATACACCAACCA	0.532																																																0													136	122	127					20																	25260932		2203	4300	6503	SO:0001583	missense	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1123T>C	20.37:g.25260932T>C	ENSP00000216962:p.Tyr375His		Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945783	0.73672	.	.	ENSG00000100994	ENST00000216962	D	0.95171	-3.63	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.98080	0.9367	H	0.97465	4.01	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.98792	1.0736	10	0.87932	D	0	-34.2926	12.7502	0.57304	0.0:0.0:0.0:1.0	.	375	P11216	PYGB_HUMAN	H	375	ENSP00000216962:Y375H	ENSP00000216962:Y375H	Y	+	1	0	PYGB	25208932	1.000000	0.71417	0.940000	0.37924	0.769000	0.43574	7.731000	0.84895	1.742000	0.51746	0.379000	0.24179	TAC		0.532	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		C	25260932	T	C	25260932	3	2	125	1	0	0	0	0	1	0	0	0	12866	1406	49	3	1161	3	PYGB	20	25260932	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10		25260932	37764588	91	7680											
GGT7	2686	hgsc.bcm.edu	37	20	33437824	33437824	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr20:33437824C>T	ENST00000336431.5	-	14	1809	c.1765G>A	c.(1765-1767)Gac>Aac	p.D589N	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	589					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCCAGGCTGTCACTCAGGTTC	0.612																																																0													37	41	40					20																	33437824		1943	4134	6077	SO:0001583	missense	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1765G>A	20.37:g.33437824C>T	ENSP00000338964:p.Asp589Asn		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	34	5.340399	0.95783	.	.	ENSG00000131067	ENST00000336431	T	0.23147	1.92	5.87	5.87	0.94306	.	0.092181	0.64402	D	0.000001	T	0.48572	0.1507	M	0.73217	2.22	0.58432	D	0.999999	D;D	0.58620	0.978;0.983	P;P	0.58266	0.836;0.836	T	0.18178	-1.0345	10	0.38643	T	0.18	-7.2752	20.193	0.98233	0.0:1.0:0.0:0.0	.	589;589	A4FU32;Q9UJ14	.;GGT7_HUMAN	N	589	ENSP00000338964:D589N	ENSP00000338964:D589N	D	-	1	0	GGT7	32901485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.143000	0.77348	2.941000	0.99782	0.655000	0.94253	GAC		0.612	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		T	33437824	C	T	33437824	3	4	125	1	0	0	0	0	1	0	0	0	6366	826	29	2	231	2	GGT7	20	33437824	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10	8176892	33437824	29587696	92	7681											
MYH7B	57644	hgsc.bcm.edu	37	20	33567548	33567548	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr20:33567548C>A	ENST00000262873.7	+	5	501	c.409C>A	c.(409-411)Ctg>Atg	p.L137M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	95	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GATGACGCACCTGAACGAGGC	0.632																																																0													70	71	70					20																	33567548		2175	4287	6462	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.409C>A	20.37:g.33567548C>A	ENSP00000262873:p.Leu137Met		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636730	0.87760	.	.	ENSG00000078814	ENST00000262873	D	0.89681	-2.55	4.31	4.31	0.51392	Myosin head, motor domain (2);	0.000000	0.34025	N	0.004332	D	0.97015	0.9025	H	0.99249	4.485	0.53005	D	0.999969	D	0.71674	0.998	D	0.79108	0.992	D	0.98931	1.0787	10	0.87932	D	0	.	16.9287	0.86183	0.0:1.0:0.0:0.0	.	95	A7E2Y1	MYH7B_HUMAN	M	137	ENSP00000262873:L137M	ENSP00000262873:L137M	L	+	1	2	MYH7B	33031209	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.643000	0.83403	2.383000	0.81215	0.561000	0.74099	CTG		0.632	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		A	33567548	C	A	33567548	3	1	125	1	0	0	0	0	1	0	0	0	10042	680	24	4	427	4	MYH7B	20	33567548	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10	129724	33567548	29457972	93	7682											
C20orf132	140699	hgsc.bcm.edu	37	20	35752076	35752077	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr20:35752076_35752077delCA	ENST00000400441.3	-	15	1910_1911	c.1911_1912delTG	c.(1909-1914)tctgatfs	p.D638fs	MROH8_ENST00000441008.2_Frame_Shift_Del_p.D624fs|MROH8_ENST00000217333.8_Frame_Shift_Del_p.D467fs			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	47																	ATGTCGACATCAGACATGGTGA	0.48																																																0																																										SO:0001589	frameshift_variant	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1911_1912delTG	20.37:g.35752076_35752077delCA	ENSP00000383291:p.Asp638fs		Q5JYQ6	Frame_Shift_Del	DEL	ENST00000400441.3	37																																																																																					0.48	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		-	35752077	CA	-	35752076	7	5	125	1	0	1	0	1	0	0	0	0	2088	826	29	0	1256	0	C20orf132	20	35752076	Frame_Shift_Del	DEL	CA	TCGA-B0-4693-01A-01D-1361-10	2184528	35752076	27273444	94	7683											
L3MBTL	26013	hgsc.bcm.edu	37	20	42162041	42162041	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr20:42162041C>A	ENST00000427442.2	+	13	1589	c.1430C>A	c.(1429-1431)cCc>cAc	p.P477H	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P409H|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P477H|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P409H|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.P409H			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	409					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CAAGGAAAGCCCCTCACCCCT	0.582																																																0													75	74	75					20																	42162041		2203	4300	6503	SO:0001583	missense	0			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1430C>A	20.37:g.42162041C>A	ENSP00000402107:p.Pro477His		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	CCDS46602.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.139076|4.139076	0.77775|0.77775	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133|ENST00000445228	T;T;T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8;0.8;0.8|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.154568|0.154568	0.64402|0.64402	D|D	0.000015|0.000015	T|T	0.61813|0.61813	0.2377|0.2377	M|M	0.68952|0.68952	2.095|2.095	0.50467|0.50467	D|D	0.999872|0.999872	D;P;D;D|.	0.76494|.	0.988;0.95;0.999;0.993|.	P;P;D;D|.	0.74348|.	0.904;0.835;0.983;0.934|.	T|T	0.54761|0.54761	-0.8245|-0.8245	10|7	0.52906|0.13470	T|T	0.07|0.59	.|.	11.274|11.274	0.49155|0.49155	0.0:0.916:0.0:0.084|0.0:0.916:0.0:0.084	.|.	477;61;409;409|.	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1|.	.;.;.;.|.	H|T	477;477;409;409;409;195;61|100	ENSP00000402107:P477H;ENSP00000398516:P477H;ENSP00000362227:P409H;ENSP00000403316:P409H;ENSP00000362226:P409H;ENSP00000410139:P195H|.	ENSP00000362225:P61H|ENSP00000412938:P100T	P|P	+|+	2|1	0|0	L3MBTL1|L3MBTL1	41595455|41595455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	4.762000|4.762000	0.62250|0.62250	2.747000|2.747000	0.94245|0.94245	0.462000|0.462000	0.41574|0.41574	CCC|CCC		0.582	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		A	42162041	C	A	42162041	3	1	125	1	0	0	0	0	1	0	0	0	8593	623	22	4	1264	4	L3MBTL	20	42162041	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10	6409965	42162041	20863479	95	7684											
TMPRSS2	7113	hgsc.bcm.edu	37	21	42861492	42861492	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr21:42861492C>G	ENST00000332149.5	-	4	401	c.267G>C	c.(265-267)ttG>ttC	p.L89F	TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000398585.3_Missense_Mutation_p.L126F|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.L89F	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	89					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCCCCAGGGTCAAGGTGATGC	0.527			T	"ERG, ETV1, ETV4, ETV5"	prostate																																		Dom	yes		21	21q22.3	7113	"transmembrane protease, serine 2"		E	0													91	78	82					21																	42861492		2203	4300	6503	SO:0001583	missense	7113			U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.267G>C	21.37:g.42861492C>G	ENSP00000330330:p.Leu89Phe		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	C	4.983	0.182531	0.09495	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093	D;D;D;D;T	0.88431	-2.35;-2.38;-2.35;-2.37;-0.03	4.51	-9.02	0.00741	.	1.741660	0.03429	N	0.207538	T	0.75302	0.3831	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.16289	0.015;0.002	T	0.67558	-0.5640	10	0.02654	T	1	.	9.9598	0.41688	0.5549:0.1201:0.325:0.0	.	126;89	F8WES1;O15393	.;TMPS2_HUMAN	F	89;126;89;89;89	ENSP00000330330:L89F;ENSP00000381588:L126F;ENSP00000391216:L89F;ENSP00000389006:L89F;ENSP00000397846:L89F	ENSP00000330330:L89F	L	-	3	2	TMPRSS2	41783362	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.443000	0.00233	-2.559000	0.00474	-1.045000	0.02358	TTG		0.527	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			G	42861492	C	G	42861492	3	3	125	1	0	0	0	0	1	0	0	0	16252	825	29	4	1255	4	TMPRSS2	21	42861492	Missense_Mutation	SNP	C	TCGA-B0-4693-01A-01D-1361-10		42861492	5268403	96	7685											
AIFM3	150209	hgsc.bcm.edu	37	22	21332205	21332205	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chr22:21332205T>A	ENST00000399167.2	+	16	1628	c.1388T>A	c.(1387-1389)tTt>tAt	p.F463Y	AIFM3_ENST00000405089.1_Missense_Mutation_p.F469Y|AIFM3_ENST00000440238.2_Missense_Mutation_p.F463Y|AIFM3_ENST00000335375.5_Missense_Mutation_p.F451Y|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Missense_Mutation_p.F463Y|AIFM3_ENST00000399163.2_Missense_Mutation_p.F463Y	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	463					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCAGGCGTGTTTGCAGCTGGC	0.587																																																0													127	96	107					22																	21332205		2203	4300	6503	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1388T>A	22.37:g.21332205T>A	ENSP00000382120:p.Phe463Tyr		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	T	3.966	-0.009258	0.07727	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	4.56	4.56	0.56223	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.24275	0.0588	N	0.11927	0.2	0.80722	D	1	B;B;B;B;B	0.30973	0.297;0.302;0.106;0.106;0.13	B;B;B;B;B	0.36666	0.184;0.23;0.147;0.147;0.23	T	0.08086	-1.0739	10	0.02654	T	1	0.1811	12.1655	0.54127	0.0:0.0:0.0:1.0	.	451;451;469;463;463	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	Y	463;463;469;451;463;463	ENSP00000382120:F463Y;ENSP00000382116:F463Y;ENSP00000385800:F469Y;ENSP00000335369:F451Y;ENSP00000390798:F463Y;ENSP00000327671:F463Y	ENSP00000327671:F463Y	F	+	2	0	AIFM3	19662205	1.000000	0.71417	0.996000	0.52242	0.179000	0.23085	4.402000	0.59722	1.822000	0.53115	0.460000	0.39030	TTT		0.587	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		A	21332205	T	A	21332205	3	1	125	1	0	0	0	0	1	0	0	0	428	1841	64	5	1464	5	AIFM3	22	21332205	Missense_Mutation	SNP	T	TCGA-B0-4693-01A-01D-1361-10		21332205	29972361	97	7686											
GPR112	139378	hgsc.bcm.edu	37	X	135498624	135498624	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chrX:135498624A>G	ENST00000394143.1	+	26	9508	c.9217A>G	c.(9217-9219)Aaa>Gaa	p.K3073E	GPR112_ENST00000394141.1_Missense_Mutation_p.K2868E|GPR112_ENST00000412101.1_Missense_Mutation_p.K2868E|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.K3073E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3073					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGACTTTGACAAAGATCCTTA	0.328																																																0													76	72	73					X																	135498624		2202	4299	6501	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.9217A>G	X.37:g.135498624A>G	ENSP00000377699:p.Lys3073Glu		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.873902	0.00542	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.28069	1.67;1.67;1.63;1.63	4.74	3.86	0.44501	.	.	.	.	.	T	0.10294	0.0252	N	0.02011	-0.69	0.47183	D	0.99934	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10660	-1.0620	9	0.11182	T	0.66	.	7.8955	0.29704	0.1251:0.0:0.8749:0.0	.	2868;3073	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	E	3073;3073;2868;2868	ENSP00000377699:K3073E;ENSP00000359686:K3073E;ENSP00000416526:K2868E;ENSP00000377697:K2868E	ENSP00000359686:K3073E	K	+	1	0	GPR112	135326290	1.000000	0.71417	0.106000	0.21319	0.018000	0.09664	1.759000	0.38420	1.030000	0.39839	-0.502000	0.04539	AAA		0.328	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			G	135498624	A	G	135498624	3	3	125	1	0	0	0	0	1	0	0	0	6631	131	5	3	9307	3	GPR112	23	135498624	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10		135498624	19771936	98	7687											
CDR1	1038	hgsc.bcm.edu;ucsc.edu	37	X	139865947	139865947	+	Silent	SNP	G	G	A			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chrX:139865947G>A	ENST00000370532.2	-	1	776	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	195	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCTTCCTGAAGATCCACGTCT	0.443																																																0													128	124	125					X																	139865947		2203	4300	6503	SO:0001819	synonymous_variant	1038				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.585C>T	X.37:g.139865947G>A			Q5JXH6	Silent	SNP	ENST00000370532.2	37	CCDS14670.1																																																																																				0.443	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		A	139865947	G	A	139865947	2	1	125	1	0	0	0	0	0	0	0	1	3173	932	33	2		2	CDR1	23	139865947	Silent	SNP	G	TCGA-B0-4693-01A-01D-1361-10	4367323	139865947	15404613	99	7688											
G6PD	2539	hgsc.bcm.edu	37	X	153763534	153763534	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4693-01A-01D-1361-10	TCGA-B0-4693-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a4700126-bb06-4618-9aa9-555139e4403a	819dd79c-b4d5-49c4-9b60-4c652ab13a5f	g.chrX:153763534A>G	ENST00000393564.2	-	5	446	c.334T>C	c.(334-336)Tac>Cac	p.Y112H	G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393562.2_Missense_Mutation_p.Y142H|G6PD_ENST00000369620.2_Missense_Mutation_p.Y112H	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	112					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATCATCGTACTGGCCAGCC	0.607																																																0													122	76	92					X																	153763534		2203	4300	6503	SO:0001583	missense	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.334T>C	X.37:g.153763534A>G	ENSP00000377194:p.Tyr112His		D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789846	0.50102	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88;-4.88;-4.88	5.67	4.48	0.54585	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.96861	3.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98633	1.0672	10	0.87932	D	0	.	9.3033	0.37858	0.8368:0.0:0.0:0.1632	.	112;142	P11413;P11413-3	G6PD_HUMAN;.	H	142;112;112;112;112;112;112	ENSP00000377192:Y142H;ENSP00000377194:Y112H;ENSP00000358633:Y112H;ENSP00000395599:Y112H;ENSP00000400648:Y112H;ENSP00000394690:Y112H	ENSP00000291567:Y112H	Y	-	1	0	G6PD	153416728	1.000000	0.71417	0.691000	0.30163	0.051000	0.14879	8.868000	0.92320	0.746000	0.32786	0.486000	0.48141	TAC		0.607	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		G	153763534	A	G	153763534	3	3	125	1	0	0	0	0	1	0	0	0	6148	391	14	3	1249	3	G6PD	23	153763534	Missense_Mutation	SNP	A	TCGA-B0-4693-01A-01D-1361-10	13897587	153763534	1507026	100	7689											
RCC2	55920	hgsc.bcm.edu	37	1	17743003	17743003	+	Silent	SNP	T	T	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr1:17743003T>A	ENST00000375436.4	-	8	1186	c.999A>T	c.(997-999)cgA>cgT	p.R333R	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Silent_p.R333R	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	333					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGGCCACGTCTCGTACAACCA	0.527																																																0													111	88	96					1																	17743003		2203	4300	6503	SO:0001819	synonymous_variant	55920				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.999A>T	1.37:g.17743003T>A			Q8IVL9|Q9BSN6|Q9NPV8	Silent	SNP	ENST00000375436.4	37	CCDS181.1																																																																																				0.527	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		A	17743003	T	A	17743003	2	1	126	1	0	0	0	0	0	0	0	1	13180	1538	54	5		5	RCC2	1	17743003	Silent	SNP	T	TCGA-B0-4694-01A-01D-1361-10		17743003	231507618	1	7690											
THBS3	7059	hgsc.bcm.edu	37	1	155174663	155174663	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr1:155174663T>A	ENST00000368378.3	-	4	649	c.629A>T	c.(628-630)gAg>gTg	p.E210V	RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_Intron|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	210					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGGATGGACTCGTCCCCTTG	0.542																																																0													175	142	153					1																	155174663		2203	4300	6503	SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.629A>T	1.37:g.155174663T>A	ENSP00000357362:p.Glu210Val		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.998347	0.54147	.	.	ENSG00000169231	ENST00000368378	D	0.81739	-1.53	5.13	5.13	0.70059	.	0.409718	0.26421	N	0.024465	T	0.63663	0.2530	L	0.39898	1.24	0.80722	D	1	B;B;B	0.20671	0.047;0.012;0.026	B;B;B	0.25405	0.011;0.06;0.06	T	0.64007	-0.6508	10	0.38643	T	0.18	-22.919	13.1972	0.59745	0.0:0.0:0.0:1.0	.	210;210;210	Q53FK6;Q2HIZ0;P49746	.;.;TSP3_HUMAN	V	210	ENSP00000357362:E210V	ENSP00000357362:E210V	E	-	2	0	THBS3	153441287	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	5.694000	0.68272	2.281000	0.76405	0.523000	0.50628	GAG		0.542	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		A	155174663	T	A	155174663	3	1	126	1	0	0	0	0	1	0	0	0	15860	1551	54	5	2321	5	THBS3	1	155174663	Missense_Mutation	SNP	T	TCGA-B0-4694-01A-01D-1361-10	137431660	155174663	94075958	2	7691											
GON4L	54856	hgsc.bcm.edu	37	1	155735259	155735259	+	Silent	SNP	T	T	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr1:155735259T>C	ENST00000368331.1	-	21	4053	c.4005A>G	c.(4003-4005)gaA>gaG	p.E1335E	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.E1335E|GON4L_ENST00000271883.5_Silent_p.E1335E|GON4L_ENST00000437809.1_Silent_p.E1335E	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1335					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCCACTGATTTCCTCTCTAG	0.512																																																0													109	104	106					1																	155735259		2203	4300	6503	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4005A>G	1.37:g.155735259T>C			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37																																																																																					0.512	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		C	155735259	T	C	155735259	2	2	126	1	0	0	0	0	0	0	0	1	6574	1838	64	3		3	GON4L	1	155735259	Silent	SNP	T	TCGA-B0-4694-01A-01D-1361-10	560596	155735259	93515362	3	7692											
FCRLB	127943	hgsc.bcm.edu	37	1	161693269	161693269	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr1:161693269G>T	ENST00000367948.2	+	5	380	c.165G>T	c.(163-165)caG>caT	p.Q55H	FCRLB_ENST00000367944.3_Missense_Mutation_p.Q48H|FCRLB_ENST00000367946.3_Missense_Mutation_p.Q55H|FCRLB_ENST00000367945.1_Missense_Mutation_p.Q48H|FCRLB_ENST00000336830.5_Missense_Mutation_p.Q55H|FCRLB_ENST00000392158.1_Missense_Mutation_p.Q55H			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	55	Ig-like C2-type 1.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGGAGCTCCAGCCCATCAGCA	0.542																																																0													138	131	133					1																	161693269		2203	4300	6503	SO:0001583	missense	127943			AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.165G>T	1.37:g.161693269G>T	ENSP00000356925:p.Gln55His		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608611	0.46527	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	5.76	-1.04	0.10068	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.495763	0.17071	N	0.188173	T	0.02767	0.0083	L	0.27053	0.805	0.20638	N	0.999876	B;B;P;B;B	0.45348	0.443;0.164;0.856;0.164;0.087	B;B;B;B;B	0.41036	0.243;0.115;0.346;0.115;0.132	T	0.38993	-0.9635	10	0.54805	T	0.06	.	4.6928	0.12788	0.4125:0.0:0.4452:0.1423	.	48;48;55;55;55	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	H	55;55;48;55;48;55	ENSP00000356925:Q55H;ENSP00000356923:Q55H;ENSP00000356922:Q48H;ENSP00000338598:Q55H;ENSP00000356921:Q48H;ENSP00000375999:Q55H	ENSP00000338598:Q55H	Q	+	3	2	FCRLB	159959893	0.149000	0.22717	0.989000	0.46669	0.945000	0.59286	-0.261000	0.08694	0.044000	0.15775	0.655000	0.94253	CAG		0.542	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		T	161693269	G	T	161693269	3	4	126	1	0	0	0	0	1	0	0	0	5803	962	34	4	175	4	FCRLB	1	161693269	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	5958010	161693269	87557352	4	7693											
XPR1	9213	hgsc.bcm.edu;ucsc.edu	37	1	180651511	180651511	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr1:180651511C>A	ENST00000367590.4	+	2	283	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	XPR1_ENST00000367589.3_Missense_Mutation_p.L29M	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	29	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CAAGGATATGCTGTATTCAGC	0.328																																																0													98	104	102					1																	180651511		2203	4299	6502	SO:0001583	missense	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.85C>A	1.37:g.180651511C>A	ENSP00000356562:p.Leu29Met		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203678	0.79127	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.59083	0.29	5.71	5.71	0.89125	SPX, N-terminal (2);	0.260221	0.31542	N	0.007473	T	0.81936	0.4928	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.982	D	0.84885	0.0833	10	0.72032	D	0.01	-0.1513	19.0778	0.93169	0.0:1.0:0.0:0.0	.	29;29	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	M	29	ENSP00000356562:L29M	ENSP00000356561:L29M	L	+	1	2	XPR1	178918134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.784000	0.47774	2.881000	0.98747	0.650000	0.86243	CTG		0.328	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		A	180651511	C	A	180651511	3	1	126	1	0	0	0	0	1	0	0	0	17456	796	28	4	91	4	XPR1	1	180651511	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10	18958242	180651511	68599110	5	7694											
PROX1	5629	hgsc.bcm.edu	37	1	214170552	214170552	+	Missense_Mutation	SNP	T	T	A	rs146788962		TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr1:214170552T>A	ENST00000366958.4	+	2	1282	c.674T>A	c.(673-675)gTt>gAt	p.V225D	PROX1_ENST00000435016.1_Missense_Mutation_p.V225D|PROX1_ENST00000498508.2_Missense_Mutation_p.V225D|PROX1_ENST00000261454.4_Missense_Mutation_p.V225D	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	225					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAGCAGCTGGTTTCAGCCCGA	0.542																																																0													34	39	38					1																	214170552		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.674T>A	1.37:g.214170552T>A	ENSP00000355925:p.Val225Asp		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.907367	0.52333	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.93	4.81	0.61882	.	0.113131	0.64402	D	0.000012	T	0.43433	0.1247	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.19095	-1.0316	10	0.41790	T	0.15	-2.9286	11.6533	0.51301	0.0:0.0697:0.0:0.9303	.	225	Q92786	PROX1_HUMAN	D	225	ENSP00000420283:V225D;ENSP00000355925:V225D;ENSP00000400694:V225D;ENSP00000261454:V225D	ENSP00000261454:V225D	V	+	2	0	PROX1	212237175	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.276000	0.72601	1.069000	0.40788	0.533000	0.62120	GTT		0.542	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		A	214170552	T	A	214170552	3	1	126	1	0	0	0	0	1	0	0	0	12565	1725	60	5	676	5	PROX1	1	214170552	Missense_Mutation	SNP	T	TCGA-B0-4694-01A-01D-1361-10	33519041	214170552	35080069	6	7695											
PLB1	151056	hgsc.bcm.edu;ucsc.edu	37	2	28812901	28812901	+	Silent	SNP	T	T	C	rs570808296		TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr2:28812901T>C	ENST00000327757.5	+	29	2090	c.2046T>C	c.(2044-2046)cgT>cgC	p.R682R	PLB1_ENST00000422425.2_Silent_p.R671R|PLB1_ENST00000329020.6_Silent_p.R370R	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	682	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGACGACTCGTCATAAGTTTG	0.522													T|||	1	0.000199681	0.0	0.0	5008	,	,		17003	0.0		0.0	False		,,,				2504	0.001															0													147	144	145					2																	28812901		2203	4300	6503	SO:0001819	synonymous_variant	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2046T>C	2.37:g.28812901T>C			A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	T	5.210	0.224222	0.09863	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.61	-3.54	0.04653	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27571	-1.0070	4	.	.	.	1.0146	2.0878	0.03650	0.1816:0.1151:0.1815:0.5218	.	.	.	.	A	670	.	.	V	+	2	0	PLB1	28666405	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.150000	0.10189	-0.457000	0.07033	-1.236000	0.01555	GTC		0.522	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			C	28812901	T	C	28812901	2	2	126	1	0	0	0	0	0	0	0	1	12026	1654	58	3		3	PLB1	2	28812901	Silent	SNP	T	TCGA-B0-4694-01A-01D-1361-10		28812901	214386472	7	7696											
NFU1	27247	hgsc.bcm.edu	37	2	69650833	69650833	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr2:69650833A>C	ENST00000410022.2	-	3	388	c.183T>G	c.(181-183)atT>atG	p.I61M	NFU1_ENST00000471185.1_Intron|NFU1_ENST00000394305.1_Intron|NFU1_ENST00000303698.3_Missense_Mutation_p.I37M	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	61					iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						CTTGTGTTTGAATAAACATGT	0.353																																																0													67	66	66					2																	69650833		2203	4300	6503	SO:0001583	missense	27247			AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"HIRA interacting protein 5", "NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.183T>G	2.37:g.69650833A>C	ENSP00000387219:p.Ile61Met		B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	ENST00000410022.2	37	CCDS33217.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170047	0.57584	.	.	ENSG00000169599	ENST00000410022;ENST00000303698	T;T	0.76060	-0.99;-0.89	5.18	4.01	0.46588	NIF system FeS cluster assembly, NifU-like scaffold, N-terminal (4);	0.054281	0.85682	D	0.000000	D	0.90466	0.7014	H	0.98594	4.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.91337	0.5094	10	0.87932	D	0	5.0E-4	10.2974	0.43631	0.9217:0.0:0.0783:0.0	.	37;61	Q9UMS0-3;Q9UMS0	.;NFU1_HUMAN	M	61;37	ENSP00000387219:I61M;ENSP00000306965:I37M	ENSP00000306965:I37M	I	-	3	3	NFU1	69504337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.589000	0.53972	0.809000	0.34255	0.481000	0.45027	ATT		0.353	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		C	69650833	A	C	69650833	3	2	126	1	0	0	0	0	1	0	0	0	10388	242	9	5	605	5	NFU1	2	69650833	Missense_Mutation	SNP	A	TCGA-B0-4694-01A-01D-1361-10	40837932	69650833	173548540	8	7697											
KIAA1310	55683	hgsc.bcm.edu;ucsc.edu	37	2	97278654	97278654	+	Silent	SNP	A	A	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr2:97278654A>G	ENST00000431828.1	-	7	889	c.813T>C	c.(811-813)tcT>tcC	p.S271S	KANSL3_ENST00000441706.2_Silent_p.S184S|KANSL3_ENST00000599854.1_Silent_p.S184S|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Silent_p.S65S			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	271					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAATCAGCGGAGAGCCAGGGA	0.522																																																0													29	37	35					2																	97278654		2002	4151	6153	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.813T>C	2.37:g.97278654A>G			A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	ENST00000431828.1	37	CCDS46361.1																																																																																				0.522	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		G	97278654	A	G	97278654	2	3	126	1	0	0	0	0	0	0	0	1	8224	291	11	3		3	KIAA1310	2	97278654	Silent	SNP	A	TCGA-B0-4694-01A-01D-1361-10	27627821	97278654	145920719	9	7698											
FER1L5	90342	hgsc.bcm.edu;ucsc.edu	37	2	97366098	97366098	+	RNA	SNP	G	G	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr2:97366098G>A	ENST00000457909.1	+	0	4463							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TCATGGTTTGGGACCCAAGAA	0.577																																																0													101	112	108					2																	97366098		2062	4184	6246			90342			BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"fer-1-like 5 (C. elegans)"				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97366098G>A			Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37		.	.	.	.	.	.	.	.	.	.	G	13.29	2.192767	0.38707	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.05	4.18	0.49190	.	0.000000	0.44902	U	0.000403	T	0.79799	0.4508	M	0.85462	2.755	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.999;0.992	D	0.86091	0.1550	8	0.87932	D	0	-18.5804	12.158	0.54087	0.0847:0.0:0.9153:0.0	.	398;1681;399	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	R	1681;1694;399	.	ENSP00000442027:G399R	G	+	1	0	FER1L5	96729825	1.000000	0.71417	0.480000	0.27341	0.924000	0.55760	9.214000	0.95140	1.133000	0.42147	0.561000	0.74099	GGA		0.577	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		A	97366098	G	A	97366098	1	1	126	0	1	0	0	0	0	0	0	0	5816	1233	43	2		2	FER1L5	2	97366098	RNA	SNP	G	TCGA-B0-4694-01A-01D-1361-10	87444	97366098	145833275	10	7699											
ALS2CR11	151254	hgsc.bcm.edu	37	2	202352345	202352345	+	Missense_Mutation	SNP	C	C	A	rs149841146		TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr2:202352345C>A	ENST00000286195.3	-	15	1906	c.1862G>T	c.(1861-1863)aGa>aTa	p.R621I	ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.R1818I|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	621								p.R621K(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TCAATATCCTCTTTTAATTTT	0.313																																																1	Substitution - Missense(1)	skin(1)											89	89	89					2																	202352345		2203	4300	6503	SO:0001583	missense	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1862G>T	2.37:g.202352345C>A	ENSP00000286195:p.Arg621Ile		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732022	0.30684	.	.	ENSG00000155754	ENST00000286195;ENST00000439140	T;T	0.56103	0.52;0.48	4.46	3.57	0.40892	.	0.353144	0.20763	N	0.086125	T	0.48840	0.1522	N	0.08118	0	0.80722	D	1	D;D	0.61697	0.98;0.99	P;D	0.64410	0.868;0.925	T	0.56105	-0.8034	10	0.87932	D	0	.	10.6311	0.45536	0.0:0.8055:0.1945:0.0	.	1818;621	E9PGG4;Q53TS8	.;AL2SA_HUMAN	I	621;1818	ENSP00000286195:R621I;ENSP00000409937:R1818I	ENSP00000286195:R621I	R	-	2	0	ALS2CR11	202060590	0.996000	0.38824	0.953000	0.39169	0.074000	0.17049	1.326000	0.33735	1.203000	0.43233	-0.165000	0.13383	AGA		0.313	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		A	202352345	C	A	202352345	3	1	126	1	0	0	0	0	1	0	0	0	552	913	32	4	13	4	ALS2CR11	2	202352345	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10	104986247	202352345	40847028	11	7700											
GNAI2	2771	hgsc.bcm.edu	37	3	50295032	50295032	+	Silent	SNP	C	C	T	rs587605417		TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr3:50295032C>T	ENST00000313601.6	+	8	1362	c.978C>T	c.(976-978)tgC>tgT	p.C326C	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Silent_p.C274C|GNAI2_ENST00000266027.5_Silent_p.C310C|GNAI2_ENST00000536647.1_Silent_p.C245C|GNAI2_ENST00000422163.1_Silent_p.C310C|GNAI2_ENST00000451956.1_Silent_p.C289C|U73166.2_ENST00000439898.1_lincRNA	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	326					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		ACTTCACGTGCGCCACCGACA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		11775	0.0		0.0	False		,,,				2504	0.001															0													91	71	78					3																	50295032		2203	4300	6503	SO:0001819	synonymous_variant	2771			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.978C>T	3.37:g.50295032C>T			B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Silent	SNP	ENST00000313601.6	37	CCDS2813.1																																																																																				0.537	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		T	50295032	C	T	50295032	2	4	126	1	0	0	0	0	0	0	0	1	6507	776	27	1		1	GNAI2	3	50295032	Silent	SNP	C	TCGA-B0-4694-01A-01D-1361-10		50295032	147727398	12	7701											
DCP1A	55802	hgsc.bcm.edu;ucsc.edu	37	3	53326738	53326738	+	Missense_Mutation	SNP	A	A	C	rs375268167		TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr3:53326738A>C	ENST00000607628.1	-	7	853	c.744T>G	c.(742-744)gaT>gaG	p.D248E	DCP1A_ENST00000606822.1_Missense_Mutation_p.D210E|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.D248E|Y_RNA_ENST00000384175.1_RNA	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	248					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TCTGGGAGGCATCTCCTGGCA	0.507																																																0													45	45	45					3																	53326738		1909	4128	6037	SO:0001583	missense	55802			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.744T>G	3.37:g.53326738A>C	ENSP00000475920:p.Asp248Glu		B4DHN9|U3KQM8	Missense_Mutation	SNP	ENST00000607628.1	37																																																																																					0.507	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		C	53326738	A	C	53326738	3	2	126	1	0	0	0	0	1	0	0	0	4300	214	8	5	1020	5	DCP1A	3	53326738	Missense_Mutation	SNP	A	TCGA-B0-4694-01A-01D-1361-10	3031706	53326738	144695692	13	7702											
WDR5B	54554	hgsc.bcm.edu	37	3	122133767	122133767	+	Silent	SNP	T	T	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr3:122133767T>C	ENST00000330689.4	-	1	1115	c.609A>G	c.(607-609)aaA>aaG	p.K203K	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	203										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CAACGAGCGTTTTTAAACACT	0.393																																																0													106	108	108					3																	122133767		2203	4300	6503	SO:0001819	synonymous_variant	54554			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.609A>G	3.37:g.122133767T>C			B2RCM9|Q9NUL4	Silent	SNP	ENST00000330689.4	37	CCDS3012.1																																																																																				0.393	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		C	122133767	T	C	122133767	2	2	126	1	0	0	0	0	0	0	0	1	17314	1838	64	3		3	WDR5B	3	122133767	Silent	SNP	T	TCGA-B0-4694-01A-01D-1361-10	68807029	122133767	75888663	14	7703											
ARMC8	25852	hgsc.bcm.edu;ucsc.edu	37	3	137963939	137963939	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr3:137963939G>A	ENST00000469044.1	+	12	1319	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	ARMC8_ENST00000538260.1_Missense_Mutation_p.D319N|ARMC8_ENST00000491704.1_Missense_Mutation_p.D308N|ARMC8_ENST00000461822.1_Missense_Mutation_p.D283N|ARMC8_ENST00000485396.1_Missense_Mutation_p.D277N|ARMC8_ENST00000489213.1_Missense_Mutation_p.D308N|ARMC8_ENST00000481646.1_Missense_Mutation_p.D336N|ARMC8_ENST00000393058.3_Missense_Mutation_p.D340N|ARMC8_ENST00000358441.2_Missense_Mutation_p.D336N|ARMC8_ENST00000470821.1_Missense_Mutation_p.D350N|ARMC8_ENST00000471453.1_Missense_Mutation_p.D336N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	350										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GCTTGATCATGATTTAAAACA	0.393																																																0													86	80	82					3																	137963939		2203	4300	6503	SO:0001583	missense	25852				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1048G>A	3.37:g.137963939G>A	ENSP00000419413:p.Asp350Asn		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.240843|4.240843	0.79912|0.79912	.|.	.|.	ENSG00000114098|ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459|ENST00000469860	T;T;T;T;T;T;T;T;T;T;T|.	0.65732|.	-0.17;-0.17;-0.17;1.85;1.13;0.25;0.21;1.85;1.84;0.2;-0.17|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67813|0.67813	0.2933|0.2933	L|L	0.48877|0.48877	1.53|1.53	0.80722|0.80722	D|D	1|1	P;D;P;P;D;D;D|.	0.69078|.	0.799;0.997;0.553;0.734;0.977;0.996;0.99|.	B;P;B;B;P;D;P|.	0.77557|.	0.395;0.908;0.151;0.321;0.787;0.99;0.827|.	T|T	0.64470|0.64470	-0.6400|-0.6400	10|5	0.72032|.	D|.	0.01|.	-5.9985|-5.9985	16.7031|16.7031	0.85364|0.85364	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	277;283;319;350;336;350;336|.	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6|.	.;.;.;ARMC8_HUMAN;.;.;.|.	N|I	336;350;308;336;308;283;277;336;350;319;340;244;207|63	ENSP00000420333:D336N;ENSP00000419413:D350N;ENSP00000417304:D308N;ENSP00000351221:D336N;ENSP00000418412:D308N;ENSP00000420706:D283N;ENSP00000417049:D277N;ENSP00000420440:D336N;ENSP00000418405:D350N;ENSP00000441592:D319N;ENSP00000376778:D340N|.	ENSP00000351221:D336N|.	D|M	+|+	1|3	0|0	ARMC8|ARMC8	139446629|139446629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.869000|9.869000	0.99810|0.99810	2.522000|2.522000	0.85027|0.85027	0.650000|0.650000	0.86243|0.86243	GAT|ATG		0.393	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		A	137963939	G	A	137963939	3	1	126	1	0	0	0	0	1	0	0	0	957	1290	45	2	1052	2	ARMC8	3	137963939	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	15830172	137963939	60058491	15	7704											
IGSF10	285313	hgsc.bcm.edu	37	3	151164336	151164336	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr3:151164336A>C	ENST00000282466.3	-	4	3432	c.3433T>G	c.(3433-3435)Tat>Gat	p.Y1145D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1145					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTGGAGCATATGTCATGACT	0.408																																																0													255	242	246					3																	151164336		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3433T>G	3.37:g.151164336A>C	ENSP00000282466:p.Tyr1145Asp		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	8.924	0.961840	0.18583	.	.	ENSG00000152580	ENST00000282466	T	0.67523	-0.27	5.34	-0.86	0.10680	.	1.267010	0.05823	N	0.616069	T	0.41534	0.1163	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18429	-1.0337	10	0.36615	T	0.2	.	2.963	0.05899	0.1028:0.2501:0.4086:0.2385	.	1145	Q6WRI0	IGS10_HUMAN	D	1145	ENSP00000282466:Y1145D	ENSP00000282466:Y1145D	Y	-	1	0	IGSF10	152647026	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.497000	0.06428	-0.131000	0.11578	0.482000	0.46254	TAT		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151164336	A	C	151164336	3	2	126	1	0	0	0	0	1	0	0	0	7599	449	16	5	4498	5	IGSF10	3	151164336	Missense_Mutation	SNP	A	TCGA-B0-4694-01A-01D-1361-10	13200397	151164336	46858094	16	7705											
LRRC15	131578	hgsc.bcm.edu	37	3	194080112	194080112	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr3:194080112G>A	ENST00000347624.3	-	2	1746	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	LRRC15_ENST00000439944.2_Missense_Mutation_p.S560F|LRRC15_ENST00000428839.1_Missense_Mutation_p.S560F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	554					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.S554C(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGCAGCCAGGGAGCAGGCCAG	0.597																																																1	Substitution - Missense(1)	ovary(1)											62	62	62					3																	194080112		2203	4300	6503	SO:0001583	missense	131578			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1661C>T	3.37:g.194080112G>A	ENSP00000306276:p.Ser554Phe		Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575140	0.65878	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.56776	0.44;0.47;0.47	5.48	5.48	0.80851	.	0.511250	0.18877	N	0.128694	T	0.59770	0.2218	N	0.24115	0.695	0.39836	D	0.973044	D;D	0.67145	0.994;0.996	P;D	0.65010	0.854;0.931	T	0.62086	-0.6928	10	0.51188	T	0.08	.	17.9172	0.88955	0.0:0.0:1.0:0.0	.	554;560	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	F	554;560;560	ENSP00000306276:S554F;ENSP00000389128:S560F;ENSP00000413707:S560F	ENSP00000306276:S554F	S	-	2	0	LRRC15	195561407	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	6.013000	0.70776	2.758000	0.94735	0.563000	0.77884	TCC		0.597	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			A	194080112	G	A	194080112	3	1	126	1	0	0	0	0	1	0	0	0	8972	1174	41	2	88	2	LRRC15	3	194080112	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	42915776	194080112	3942318	17	7706											
ANKRD56	345079	hgsc.bcm.edu	37	4	77817362	77817362	+	Silent	SNP	T	T	C	rs2703131	byFrequency	TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr4:77817362T>C	ENST00000334306.2	-	1	1640	c.1641A>G	c.(1639-1641)ttA>ttG	p.L547L		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	547																	GTTTTAGTGATAAACCTGCAT	0.617													T|||	975	0.194688	0.2216	0.1844	5008	,	,		18462	0.0873		0.2366	False		,,,				2504	0.2331															0								T		889,3517	343.6+/-307.7	97,695,1411	45	47	46		1641	2.3	0	4	dbSNP_100	46	1850,6750	329.6+/-318.8	188,1474,2638	no	coding-synonymous	ANKRD56	NM_001029870.1		285,2169,4049	CC,CT,TT		21.5116,20.177,21.0595		547/794	77817362	2739,10267	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1641A>G	4.37:g.77817362T>C			B2RP29	Silent	SNP	ENST00000334306.2	37	CCDS34017.1																																																																																				0.617	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		C	77817362	T	C	77817362	2	2	126	1	0	0	0	0	0	0	0	1	682	1403	49	3		3	ANKRD56	4	77817362	Silent	SNP	T	TCGA-B0-4694-01A-01D-1361-10		77817362	113336914	18	7707											
GALNT7	51809	hgsc.bcm.edu	37	4	174219388	174219388	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr4:174219388A>G	ENST00000265000.4	+	6	1171	c.1088A>G	c.(1087-1089)aAa>aGa	p.K363R	GALNT7_ENST00000512285.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	363					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ATGCTCTGGAAACGGGTGCCT	0.433																																																0													79	80	80					4																	174219388		2203	4300	6503	SO:0001583	missense	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1088A>G	4.37:g.174219388A>G	ENSP00000265000:p.Lys363Arg		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.876722	0.91664	.	.	ENSG00000109586	ENST00000265000	T	0.58797	0.31	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69143	-0.5223	10	0.40728	T	0.16	.	15.9192	0.79547	1.0:0.0:0.0:0.0	.	363	Q86SF2	GALT7_HUMAN	R	363	ENSP00000265000:K363R	ENSP00000265000:K363R	K	+	2	0	GALNT7	174455963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.164000	0.68074	0.533000	0.62120	AAA		0.433	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		G	174219388	A	G	174219388	3	3	126	1	0	0	0	0	1	0	0	0	6220	14	1	3	1110	3	GALNT7	4	174219388	Missense_Mutation	SNP	A	TCGA-B0-4694-01A-01D-1361-10	96402026	174219388	16934888	19	7708											
DDX4	54514	hgsc.bcm.edu;ucsc.edu	37	5	55109576	55109576	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr5:55109576A>C	ENST00000505374.1	+	19	1783	c.1691A>C	c.(1690-1692)aAa>aCa	p.K564T	DDX4_ENST00000354991.5_Missense_Mutation_p.K530T|DDX4_ENST00000514278.2_Missense_Mutation_p.K544T|DDX4_ENST00000511853.1_Missense_Mutation_p.K415T|DDX4_ENST00000353507.5_Missense_Mutation_p.K530T	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	564	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTCAAGAAAAAATATCAACT	0.279																																																0													72	87	82					5																	55109576		2202	4295	6497	SO:0001583	missense	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1691A>C	5.37:g.55109576A>C	ENSP00000424838:p.Lys564Thr		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586776	0.86851	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09	6.17	6.17	0.99709	Helicase, C-terminal (3);	0.142439	0.64402	D	0.000007	D	0.90813	0.7115	L	0.33245	0.995	0.47308	D	0.999386	P;P;B;P	0.48998	0.523;0.866;0.391;0.918	B;P;B;B	0.48770	0.257;0.589;0.257;0.42	D	0.91176	0.4972	10	0.51188	T	0.08	-7.0149	16.8222	0.85835	1.0:0.0:0.0:0.0	.	544;415;530;564	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	T	530;544;564;530;415	ENSP00000334167:K530T;ENSP00000425359:K544T;ENSP00000424838:K564T;ENSP00000347087:K530T;ENSP00000423123:K415T	ENSP00000334167:K530T	K	+	2	0	DDX4	55145333	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.895000	0.92512	2.371000	0.80710	0.533000	0.62120	AAA		0.279	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		C	55109576	A	C	55109576	3	2	126	1	0	0	0	0	1	0	0	0	4362	14	1	5	1802	5	DDX4	5	55109576	Missense_Mutation	SNP	A	TCGA-B0-4694-01A-01D-1361-10		55109576	125805684	20	7709											
IL4	3565	hgsc.bcm.edu	37	5	132018257	132018257	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr5:132018257A>G	ENST00000231449.2	+	4	505	c.440A>G	c.(439-441)aAa>aGa	p.K147R	IL4_ENST00000350025.2_Missense_Mutation_p.K131R	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	147					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		ATGAGAGAGAAATATTCAAAG	0.294																																																0													79	80	80					5																	132018257		2203	4300	6503	SO:0001583	missense	3565			M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"Interleukins and interleukin receptors"	6014	protein-coding gene	gene with protein product	"B_cell stimulatory factor 1", "lymphocyte stimulatory factor 1", "B cell growth factor 1"	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.440A>G	5.37:g.132018257A>G	ENSP00000231449:p.Lys147Arg		Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	CCDS4158.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.014101	0.35511	.	.	ENSG00000113520	ENST00000231449;ENST00000350025	T;T	0.53857	0.6;0.6	5.24	1.22	0.21188	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.376546	0.23116	N	0.051754	T	0.43277	0.1240	L	0.49126	1.545	0.23879	N	0.99658	B;B	0.20261	0.043;0.043	B;B	0.30646	0.118;0.118	T	0.43925	-0.9361	10	0.72032	D	0.01	-11.1676	3.7203	0.08453	0.4717:0.0:0.1016:0.4266	.	131;147	Q5FC01;P05112	.;IL4_HUMAN	R	147;131	ENSP00000231449:K147R;ENSP00000325190:K131R	ENSP00000231449:K147R	K	+	2	0	IL4	132046156	1.000000	0.71417	0.869000	0.34112	0.720000	0.41350	1.350000	0.34010	0.320000	0.23234	-0.301000	0.09380	AAA		0.294	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589		G	132018257	A	G	132018257	3	3	126	1	0	0	0	0	1	0	0	0	7698	14	1	3	454	3	IL4	5	132018257	Missense_Mutation	SNP	A	TCGA-B0-4694-01A-01D-1361-10	76908681	132018257	48897003	21	7710											
TCERG1	10915	hgsc.bcm.edu	37	5	145862191	145862191	+	Silent	SNP	A	A	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr5:145862191A>G	ENST00000296702.5	+	13	1961	c.1923A>G	c.(1921-1923)gaA>gaG	p.E641E	TCERG1_ENST00000394421.2_Silent_p.E620E	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	641					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAGAAAGAAGCTGCCATGG	0.393																																																0													51	52	51					5																	145862191		2203	4300	6503	SO:0001819	synonymous_variant	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1923A>G	5.37:g.145862191A>G			Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																				0.393	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		G	145862191	A	G	145862191	2	3	126	1	0	0	0	0	0	0	0	1	15690	69	3	3		3	TCERG1	5	145862191	Silent	SNP	A	TCGA-B0-4694-01A-01D-1361-10	13843934	145862191	35053069	22	7711											
NDST1	3340	hgsc.bcm.edu	37	5	149921139	149921139	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr5:149921139G>T	ENST00000261797.6	+	9	2259	c.1757G>T	c.(1756-1758)tGc>tTc	p.C586F	NDST1_ENST00000523767.1_Missense_Mutation_p.C586F|snoU13_ENST00000459561.1_RNA	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	586	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGACCCCTGCGAGGACAAA	0.562																																																0													97	82	87					5																	149921139		2203	4300	6503	SO:0001583	missense	3340			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1757G>T	5.37:g.149921139G>T	ENSP00000261797:p.Cys586Phe		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992382	0.54041	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.55052	0.54;0.54	5.02	4.15	0.48705	.	0.088634	0.85682	D	0.000000	T	0.74061	0.3667	M	0.88704	2.975	0.80722	D	1	D;D	0.64830	0.988;0.994	D;P	0.64687	0.928;0.882	T	0.79897	-0.1609	10	0.87932	D	0	.	13.2951	0.60292	0.0778:0.0:0.9222:0.0	.	586;586	E7EVJ3;P52848	.;NDST1_HUMAN	F	586	ENSP00000428604:C586F;ENSP00000261797:C586F	ENSP00000261797:C586F	C	+	2	0	NDST1	149901332	1.000000	0.71417	0.976000	0.42696	0.036000	0.12997	9.751000	0.98889	1.251000	0.43983	0.655000	0.94253	TGC		0.562	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		T	149921139	G	T	149921139	3	4	126	1	0	0	0	0	1	0	0	0	10257	1319	46	4	1787	4	NDST1	5	149921139	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	4058948	149921139	30994121	23	7712											
FAM65B	9750	hgsc.bcm.edu	37	6	24828489	24828489	+	Silent	SNP	C	C	T			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr6:24828489C>T	ENST00000259698.4	-	19	2779	c.2604G>A	c.(2602-2604)cgG>cgA	p.R868R	FAM65B_ENST00000538035.1_Silent_p.R847R	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	868			R -> Q (in dbSNP:rs9461073). {ECO:0000269|PubMed:9205841}.		cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GAGGCTCAGCCCGGTCCAGAA	0.483																																																0													49	48	48					6																	24828489		692	1591	2283	SO:0001819	synonymous_variant	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.2604G>A	6.37:g.24828489C>T			A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	CCDS47383.1																																																																																				0.483	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			T	24828489	C	T	24828489	2	4	126	1	0	0	0	0	0	0	0	1	5602	610	22	2		2	FAM65B	6	24828489	Silent	SNP	C	TCGA-B0-4694-01A-01D-1361-10		24828489	146286578	24	7713											
HIST1H2BD	3017	hgsc.bcm.edu	37	6	26158751	26158751	+	Silent	SNP	C	C	T	rs541069056		TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr6:26158751C>T	ENST00000289316.2	+	1	378	c.354C>T	c.(352-354)gcC>gcT	p.A118A	HIST1H2BD_ENST00000377777.4_Silent_p.A118A	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	118					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A118A(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GCACCAAGGCCGTCACCAAGT	0.547																																																1	Substitution - coding silent(1)	ovary(1)											70	76	74					6																	26158751		2203	4300	6503	SO:0001819	synonymous_variant	3017			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.354C>T	6.37:g.26158751C>T				Silent	SNP	ENST00000289316.2	37	CCDS4587.1																																																																																				0.547	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		T	26158751	C	T	26158751	2	4	126	1	0	0	0	0	0	0	0	1	7145	639	23	1		1	HIST1H2BD	6	26158751	Silent	SNP	C	TCGA-B0-4694-01A-01D-1361-10	1330262	26158751	144956316	25	7714											
PRPH2	5961	hgsc.bcm.edu	37	6	42690020	42690020	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr6:42690020T>C	ENST00000230381.5	-	1	292	c.53A>G	c.(52-54)cAa>cGa	p.Q18R		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	18					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CCAGAGCCCTTGGGCCAACTT	0.542																																																0													79	76	77					6																	42690020		2203	4300	6503	SO:0001583	missense	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.53A>G	6.37:g.42690020T>C	ENSP00000230381:p.Gln18Arg		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404224	0.83230	.	.	ENSG00000112619	ENST00000230381	T	0.03212	4.01	5.48	5.48	0.80851	.	0.105519	0.64402	N	0.000003	T	0.06280	0.0162	M	0.86953	2.85	0.58432	D	0.999999	P	0.37207	0.587	B	0.43052	0.406	T	0.09840	-1.0656	10	0.29301	T	0.29	.	15.56	0.76237	0.0:0.0:0.0:1.0	.	18	P23942	PRPH2_HUMAN	R	18	ENSP00000230381:Q18R	ENSP00000230381:Q18R	Q	-	2	0	PRPH2	42797998	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	7.665000	0.83852	2.072000	0.62099	0.460000	0.39030	CAA		0.542	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		C	42690020	T	C	42690020	3	2	126	1	0	0	0	0	1	0	0	0	12582	1812	63	3	999	3	PRPH2	6	42690020	Missense_Mutation	SNP	T	TCGA-B0-4694-01A-01D-1361-10	16531269	42690020	128425047	26	7715											
GPR31	2853	hgsc.bcm.edu	37	6	167570628	167570628	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr6:167570628A>G	ENST00000366834.1	-	1	1189	c.692T>C	c.(691-693)tTt>tCt	p.F231S		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	231					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GCACAGAGCAAACAGCACCAC	0.592																																																0													79	87	84					6																	167570628		2203	4300	6503	SO:0001583	missense	2853			U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"GPCR / Class A : Orphans"	4486	protein-coding gene	gene with protein product	"hydroxyeicosatetraenoic (HETE) acid receptor 1", "12-(S)-HETE acid receptor"	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.692T>C	6.37:g.167570628A>G	ENSP00000355799:p.Phe231Ser		B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679573	0.47886	.	.	ENSG00000120436	ENST00000366834	T	0.57107	0.42	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37955	U	0.001877	T	0.69459	0.3113	M	0.91561	3.22	0.34371	D	0.692095	D	0.89917	1.0	D	0.91635	0.999	T	0.77242	-0.2660	10	0.87932	D	0	-25.5194	11.2039	0.48758	1.0:0.0:0.0:0.0	.	231	O00270	GPR31_HUMAN	S	231	ENSP00000355799:F231S	ENSP00000355799:F231S	F	-	2	0	GPR31	167490618	0.988000	0.35896	0.011000	0.14972	0.270000	0.26580	6.142000	0.71750	1.512000	0.48834	0.165000	0.16767	TTT		0.592	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		G	167570628	A	G	167570628	3	3	126	1	0	0	0	0	1	0	0	0	6689	14	1	3	270	3	GPR31	6	167570628	Missense_Mutation	SNP	A	TCGA-B0-4694-01A-01D-1361-10	124880608	167570628	3544439	27	7716											
RABL5	64792	hgsc.bcm.edu	37	7	100959746	100959746	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr7:100959746T>G	ENST00000315322.4	-	4	377	c.284A>C	c.(283-285)cAc>cCc	p.H95P	RABL5_ENST00000437644.2_Missense_Mutation_p.H65P|RABL5_ENST00000517481.1_Missense_Mutation_p.H18P|RABL5_ENST00000498704.2_Missense_Mutation_p.H18P|RABL5_ENST00000495166.1_5'UTR	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		95					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					TTCCTTCCGGTGGCTTGGGAT	0.517																																																0													184	158	167					7																	100959746		2203	4300	6503	SO:0001583	missense	64792																														ENST00000315322.4:c.284A>C	7.37:g.100959746T>G	ENSP00000320359:p.His95Pro		Q49AG1|Q69YV5|Q9BSW4	Missense_Mutation	SNP	ENST00000315322.4	37	CCDS5719.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500020	0.64298	.	.	ENSG00000128581	ENST00000517481;ENST00000315322;ENST00000498704;ENST00000437644	T;T	0.79454	-1.01;-1.27	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.84647	0.5518	M	0.77486	2.375	0.80722	D	1	P;B;B	0.36647	0.563;0.414;0.045	P;B;B	0.48677	0.586;0.134;0.111	D	0.84928	0.0858	10	0.52906	T	0.07	-29.3881	14.595	0.68397	0.0:0.0:0.0:1.0	.	95;65;95	B7Z2E8;Q9H7X7-2;Q9H7X7	.;.;RABL5_HUMAN	P	18;95;18;65	ENSP00000320359:H95P;ENSP00000390770:H65P	ENSP00000320359:H95P	H	-	2	0	RABL5	100746466	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.881000	0.87252	2.330000	0.79161	0.533000	0.62120	CAC		0.517	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347565.1			G	100959746	T	G	100959746	3	3	126	1	0	0	0	0	1	0	0	0	12979	1696	59	5	281	5	RABL5	7	100959746	Missense_Mutation	SNP	T	TCGA-B0-4694-01A-01D-1361-10		100959746	58178917	28	7717											
JHDM1D	80853	hgsc.bcm.edu	37	7	139826594	139826594	+	Missense_Mutation	SNP	A	A	G	rs182952796	byFrequency	TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr7:139826594A>G	ENST00000397560.2	-	6	828	c.731T>C	c.(730-732)aTa>aCa	p.I244T	JHDM1D_ENST00000006967.5_Missense_Mutation_p.I244T	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		244	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTTTTTGGCTATATCAGGGAC	0.368													A|||	3	0.000599042	0.0	0.0	5008	,	,		16976	0.0		0.003	False		,,,				2504	0.0															0								A	THR/ILE	0,3636		0,0,1818	73	69	71		731	5.9	1	7		71	1,8171		0,1,4085	yes	missense	JHDM1D	NM_030647.1	89	0,1,5903	GG,GA,AA		0.0122,0.0,0.0085	probably-damaging	244/942	139826594	1,11807	1818	4086	5904	SO:0001583	missense	80853																														ENST00000397560.2:c.731T>C	7.37:g.139826594A>G	ENSP00000380692:p.Ile244Thr		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	CCDS43658.1	11	0.005036630036630037	0	0.0	0	0.0	0	0.0	11	0.014511873350923483	A	25.4	4.630809	0.87660	0.0	1.22E-4	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.70749	-0.51;-0.51	5.9	5.9	0.94986	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.098532	0.64402	D	0.000001	T	0.78553	0.4301	M	0.71871	2.18	0.80722	D	1	D	0.61080	0.989	D	0.68765	0.96	T	0.82499	-0.0427	10	0.62326	D	0.03	-18.9221	16.315	0.82915	1.0:0.0:0.0:0.0	.	244	Q6ZMT4	KDM7_HUMAN	T	244	ENSP00000380692:I244T;ENSP00000006967:I244T	ENSP00000006967:I244T	I	-	2	0	JHDM1D	139473063	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.250000	0.74265	0.533000	0.62120	ATA		0.368	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			G	139826594	A	G	139826594	3	3	126	1	0	0	0	0	1	0	0	0	7950	449	16	3	2154	3	JHDM1D	7	139826594	Missense_Mutation	SNP	A	TCGA-B0-4694-01A-01D-1361-10	38866848	139826594	19312069	29	7718											
RARRES2	5919	hgsc.bcm.edu	37	7	150037576	150037576	+	Silent	SNP	C	C	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr7:150037576C>A	ENST00000466675.1	-	1	1156	c.123G>T	c.(121-123)ccG>ccT	p.P41P	RARRES2_ENST00000223271.3_Silent_p.P41P|RP4-584D14.7_ENST00000563946.1_RNA|RARRES2_ENST00000482669.1_Silent_p.P41P			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	41					brown fat cell differentiation (GO:0050873)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of protein phosphorylation (GO:0001934)|regulation of lipid catabolic process (GO:0050994)|retinoid metabolic process (GO:0001523)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.P41P(1)		endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACTGCACGGGCGGGTGCTTGT	0.706																																																1	Substitution - coding silent(1)	pancreas(1)											27	25	26					7																	150037576		2202	4300	6502	SO:0001819	synonymous_variant	5919			U77594	CCDS5902.1	7q36.1	2013-02-25			ENSG00000106538	ENSG00000106538		"Endogenous ligands"	9868	protein-coding gene	gene with protein product	"chemerin"	601973				9270552, 17767914	Standard	NM_002889		Approved	TIG2, HP10433	uc003wha.3	Q99969	OTTHUMG00000158325	ENST00000466675.1:c.123G>T	7.37:g.150037576C>A			Q7LE02	Silent	SNP	ENST00000466675.1	37	CCDS5902.1																																																																																				0.706	RARRES2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350693.1			A	150037576	C	A	150037576	2	1	126	1	0	0	0	0	0	0	0	1	13062	755	27	4		4	RARRES2	7	150037576	Silent	SNP	C	TCGA-B0-4694-01A-01D-1361-10	10210982	150037576	9101087	30	7719											
ADAM18	8749	hgsc.bcm.edu	37	8	39537679	39537679	+	Silent	SNP	C	C	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr8:39537679C>G	ENST00000265707.5	+	16	1800	c.1755C>G	c.(1753-1755)tcC>tcG	p.S585S	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.S561S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	585	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CCACTGGTTCCTCCATGAGAT	0.383																																																0													92	85	87					8																	39537679		2203	4300	6503	SO:0001819	synonymous_variant	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1755C>G	8.37:g.39537679C>G			B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	CCDS6113.1																																																																																				0.383	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		G	39537679	C	G	39537679	2	3	126	1	0	0	0	0	0	0	0	1	239	668	24	4		4	ADAM18	8	39537679	Silent	SNP	C	TCGA-B0-4694-01A-01D-1361-10		39537679	106826343	31	7720											
CHRNA6	8973	hgsc.bcm.edu;ucsc.edu	37	8	42611131	42611131	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr8:42611131A>C	ENST00000276410.2	-	5	1566	c.1211T>G	c.(1210-1212)cTt>cGt	p.L404R	CHRNA6_ENST00000534622.1_Missense_Mutation_p.L389R|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	404					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GCTTGTGGCAAGCTCATTTGA	0.483																																																0													166	144	151					8																	42611131		2203	4300	6503	SO:0001583	missense	8973			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1211T>G	8.37:g.42611131A>C	ENSP00000276410:p.Leu404Arg		B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.672631	0.00758	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	T;T	0.69561	-0.41;-0.41	6.07	0.931	0.19460	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.582400	0.03463	N	0.212564	T	0.50446	0.1616	N	0.25380	0.74	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.005	T	0.16158	-1.0412	10	0.18276	T	0.48	.	3.7986	0.08750	0.4728:0.0:0.2812:0.2461	.	389;404	B4DQH1;Q15825	.;ACHA6_HUMAN	R	404;389	ENSP00000276410:L404R;ENSP00000433871:L389R	ENSP00000276410:L404R	L	-	2	0	CHRNA6	42730288	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.010000	0.13242	-0.061000	0.13110	0.533000	0.62120	CTT		0.483	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			C	42611131	A	C	42611131	3	2	126	1	0	0	0	0	1	0	0	0	3389	72	3	5	281	5	CHRNA6	8	42611131	Missense_Mutation	SNP	A	TCGA-B0-4694-01A-01D-1361-10	3073452	42611131	103752891	32	7721											
ZNF250	58500	hgsc.bcm.edu;ucsc.edu	37	8	146107413	146107413	+	Silent	SNP	G	G	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr8:146107413G>A	ENST00000292579.7	-	6	1286	c.1170C>T	c.(1168-1170)acC>acT	p.T390T	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.T385T	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GCTTCTCCCCGGTGTGCACGT	0.592																																					NSCLC(16;520 556 24096 40084 43446)											0													132	110	118					8																	146107413		2203	4300	6503	SO:0001819	synonymous_variant	58500			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1170C>T	8.37:g.146107413G>A			D3DWP1|Q59HE9|Q8N942|Q96AH9	Silent	SNP	ENST00000292579.7	37	CCDS34972.1																																																																																				0.592	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		A	146107413	G	A	146107413	2	1	126	1	0	0	0	0	0	0	0	1	17800	1103	39	1		1	ZNF250	8	146107413	Silent	SNP	G	TCGA-B0-4694-01A-01D-1361-10	103496282	146107413	256609	33	7722											
NOL6	65083	hgsc.bcm.edu	37	9	33463856	33463856	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr9:33463856C>T	ENST00000379471.2	-	23	3054	c.2967G>A	c.(2965-2967)atG>atA	p.M989I	NOL6_ENST00000455041.2_Missense_Mutation_p.M937I|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	989					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCCGGGGATCCATGAGCTGCT	0.572																																																0													73	71	72					9																	33463856		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2967G>A	9.37:g.33463856C>T	ENSP00000368784:p.Met989Ile		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	C	14.37	2.515584	0.44763	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.39056	1.1;1.1;1.59;1.1	5.81	3.97	0.46021	.	0.115163	0.85682	N	0.000000	T	0.30070	0.0753	L	0.31752	0.955	0.58432	D	0.999999	B;B;B;B	0.26041	0.14;0.056;0.095;0.069	B;B;B;B	0.29353	0.09;0.061;0.061;0.101	T	0.03993	-1.0986	10	0.13853	T	0.58	.	12.0433	0.53464	0.0:0.8598:0.0:0.1402	.	937;986;989;989	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	I	43;989;989;545;989;937	ENSP00000368783:M43I;ENSP00000297990:M989I;ENSP00000368784:M989I;ENSP00000395915:M937I	ENSP00000297990:M989I	M	-	3	0	NOL6	33453856	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.677000	0.54619	0.798000	0.33994	0.655000	0.94253	ATG		0.572	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		T	33463856	C	T	33463856	3	4	126	1	0	0	0	0	1	0	0	0	10527	594	21	2	489	2	NOL6	9	33463856	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10		33463856	107749575	34	7723											
ASPN	54829	hgsc.bcm.edu;ucsc.edu	37	9	95233022	95233022	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr9:95233022T>C	ENST00000375544.3	-	3	559	c.316A>G	c.(316-318)Atg>Gtg	p.M106V	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000450139.2_Silent_p.E77E|ASPN_ENST00000375543.1_Missense_Mutation_p.M106V|ASPN_ENST00000395538.3_Missense_Mutation_p.M106V	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	106					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						AGATCAAGCATTCGAGTATCA	0.294																																																0													87	92	90					9																	95233022		2203	4285	6488	SO:0001583	missense	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.316A>G	9.37:g.95233022T>C	ENSP00000364694:p.Met106Val		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37		.	.	.	.	.	.	.	.	.	.	T	14.57	2.574130	0.45902	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538	T;T;T	0.55760	0.5;0.5;0.5	5.66	1.86	0.25419	Leucine-rich repeat-containing N-terminal (1);	0.317185	0.41938	D	0.000789	T	0.25005	0.0607	N	0.02202	-0.64	0.28012	N	0.934876	B;B	0.16396	0.016;0.017	B;B	0.23150	0.044;0.044	T	0.22765	-1.0207	10	0.48119	T	0.1	.	8.7774	0.34769	0.1117:0.0:0.3353:0.553	.	106;106	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	V	106	ENSP00000364694:M106V;ENSP00000364693:M106V;ENSP00000378909:M106V	ENSP00000364693:M106V	M	-	1	0	ASPN	94272843	0.997000	0.39634	0.999000	0.59377	0.990000	0.78478	1.392000	0.34486	1.061000	0.40601	0.529000	0.55759	ATG		0.294	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		C	95233022	T	C	95233022	3	2	126	1	0	0	0	0	1	0	0	0	1057	1493	52	3	850	3	ASPN	9	95233022	Missense_Mutation	SNP	T	TCGA-B0-4694-01A-01D-1361-10	61769166	95233022	45980409	35	7724											
WNK2	65268	hgsc.bcm.edu	37	9	96002138	96002138	+	Silent	SNP	C	C	T			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr9:96002138C>T	ENST00000297954.4	+	6	1422	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	WNK2_ENST00000349097.3_Silent_p.I86I|WNK2_ENST00000395477.2_Silent_p.I474I|WNK2_ENST00000395475.2_Silent_p.I460I|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.I86I	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	474					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AGTCCACCATCGCCCTGAGGC	0.602																																																0													47	37	41					9																	96002138		2202	4294	6496	SO:0001819	synonymous_variant	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1422C>T	9.37:g.96002138C>T			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.05|10.05	1.245247|1.245247	0.22796|0.22796	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730	.|.	.|.	.|.	4.59|4.59	-7.99|-7.99	0.01131|0.01131	.|.	.|.	.|.	.|.	.|.	T|T	0.46698|0.46698	0.1406|0.1406	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51865|0.51865	-0.8651|-0.8651	4|4	.|.	.|.	.|.	.|.	7.4533|7.4533	0.27250|0.27250	0.1088:0.3997:0.0:0.4915|0.1088:0.3997:0.0:0.4915	.|.	.|.	.|.	.|.	C|L	78|470	.|.	.|.	R|S	+|+	1|2	0|0	WNK2|WNK2	95041959|95041959	0.004000|0.004000	0.15560|0.15560	0.827000|0.827000	0.32855|0.32855	0.948000|0.948000	0.59901|0.59901	-1.390000|-1.390000	0.02528|0.02528	-1.864000|-1.864000	0.01148|0.01148	-1.587000|-1.587000	0.00848|0.00848	CGC|TCG		0.602	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		T	96002138	C	T	96002138	2	4	126	1	0	0	0	0	0	0	0	1	17383	874	31	1		1	WNK2	9	96002138	Silent	SNP	C	TCGA-B0-4694-01A-01D-1361-10	769116	96002138	45211293	36	7725											
KIAA0368	23392	hgsc.bcm.edu;ucsc.edu	37	9	114133030	114133030	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr9:114133030C>T	ENST00000338205.5	-	43	4972	c.4753G>A	c.(4753-4755)Gcc>Acc	p.A1585T	KIAA0368_ENST00000259335.4_Missense_Mutation_p.A1763T|KIAA0368_ENST00000465499.1_5'Flank|KIAA0368_ENST00000374378.3_Missense_Mutation_p.A49T			Q5VYK3	ECM29_HUMAN	KIAA0368	1591					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CAGGCAATGGCTTTCAATAGC	0.393																																																0													44	43	43					9																	114133030		1896	4108	6004	SO:0001583	missense	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4753G>A	9.37:g.114133030C>T	ENSP00000339889:p.Ala1585Thr		O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	C	35	5.498252	0.96355	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000374383;ENST00000543827;ENST00000374378	T;T	0.69685	-0.42;-0.42	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.82921	0.5142	M	0.81497	2.545	0.80722	D	1	D	0.67145	0.996	D	0.64595	0.927	D	0.83912	0.0296	10	0.72032	D	0.01	.	20.2822	0.98520	0.0:1.0:0.0:0.0	.	1060	B3KXF2	.	T	1585;1763;49;1060;49	ENSP00000259335:A1763T;ENSP00000363499:A49T	ENSP00000259335:A1763T	A	-	1	0	KIAA0368	113172851	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.460000	0.66691	2.806000	0.96561	0.655000	0.94253	GCC		0.393	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		T	114133030	C	T	114133030	3	4	126	1	0	0	0	0	1	0	0	0	8173	797	28	2	794	2	KIAA0368	9	114133030	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10	18130892	114133030	27080401	37	7726											
ZNF483	158399	hgsc.bcm.edu;ucsc.edu	37	9	114305082	114305082	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr9:114305082A>C	ENST00000309235.5	+	6	2025	c.1867A>C	c.(1867-1869)Att>Ctt	p.I623L	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TACGTCTGTGATTTATCATCA	0.403																																																0													65	67	66					9																	114305082		2203	4300	6503	SO:0001583	missense	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1867A>C	9.37:g.114305082A>C	ENSP00000311679:p.Ile623Leu		Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.733128	0.30684	.	.	ENSG00000173258	ENST00000309235	T	0.14766	2.48	3.84	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.283884	0.25535	N	0.030002	T	0.06508	0.0167	N	0.16656	0.425	0.20638	N	0.999879	B	0.06786	0.001	B	0.10450	0.005	T	0.31166	-0.9953	10	0.30854	T	0.27	-9.0295	3.3056	0.06998	0.5702:0.21:0.2197:0.0	.	623	Q8TF39	ZN483_HUMAN	L	623	ENSP00000311679:I623L	ENSP00000311679:I623L	I	+	1	0	ZNF483	113344903	0.000000	0.05858	0.335000	0.25508	0.977000	0.68977	0.802000	0.27069	0.289000	0.22422	0.533000	0.62120	ATT		0.403	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		C	114305082	A	C	114305082	3	2	126	1	0	0	0	0	1	0	0	0	17941	333	12	5	1885	5	ZNF483	9	114305082	Missense_Mutation	SNP	A	TCGA-B0-4694-01A-01D-1361-10	172052	114305082	26908349	38	7727											
SETX	23064	hgsc.bcm.edu;ucsc.edu	37	9	135203821	135203821	+	Missense_Mutation	SNP	C	C	T	rs576141809	byFrequency	TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr9:135203821C>T	ENST00000224140.5	-	10	3346	c.3164G>A	c.(3163-3165)aGt>aAt	p.S1055N	SETX_ENST00000393220.1_Missense_Mutation_p.S1055N|SETX_ENST00000372169.2_Missense_Mutation_p.S1055N	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1055					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTCCTCCTTACTATTAACTGT	0.378																																																0													135	137	136					9																	135203821		2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3164G>A	9.37:g.135203821C>T	ENSP00000224140:p.Ser1055Asn		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	5.175	0.217857	0.09810	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86865	-2.09;-2.18;-1.79	4.58	-3.58	0.04597	.	2.721470	0.00812	N	0.001515	T	0.74635	0.3742	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17268	0.021;0.002;0.021	B;B;B	0.11329	0.006;0.003;0.006	T	0.61540	-0.7042	10	0.26408	T	0.33	.	5.8593	0.18736	0.1974:0.4975:0.2172:0.0878	.	1055;1055;1055	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	N	1055	ENSP00000224140:S1055N;ENSP00000361242:S1055N;ENSP00000376913:S1055N	ENSP00000224140:S1055N	S	-	2	0	SETX	134193642	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.363000	0.02592	-0.840000	0.04206	0.644000	0.83932	AGT		0.378	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		T	135203821	C	T	135203821	3	4	126	1	0	0	0	0	1	0	0	0	14147	565	20	2	4937	2	SETX	9	135203821	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10	20898739	135203821	6009610	39	7728											
AKR1C1	1645	hgsc.bcm.edu;ucsc.edu	37	10	5009193	5009193	+	Silent	SNP	T	T	C	rs11548049	byFrequency	TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr10:5009193T>C	ENST00000380872.4	+	3	519	c.327T>C	c.(325-327)gaT>gaC	p.D109D	AKR1C1_ENST00000434459.2_Silent_p.D109D|AKR1C1_ENST00000380859.1_Silent_p.D111D|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	109					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	TTCAATTGGATTATGTTGACC	0.398													T|||	19	0.00379393	0.003	0.0072	5008	,	,		18958	0.0		0.0089	False		,,,				2504	0.001				Colon(130;2054 2316 13360 15380)											0								T		31,4375	36.8+/-68.6	0,31,2172	127	116	120		327	-1.6	0.1	10	dbSNP_120	120	81,8519	47.6+/-106.9	1,79,4220	no	coding-synonymous	AKR1C1	NM_001353.5		1,110,6392	CC,CT,TT		0.9419,0.7036,0.8611		109/324	5009193	112,12894	2203	4300	6503	SO:0001819	synonymous_variant	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.327T>C	10.37:g.5009193T>C			P52896|Q5SR15|Q7M4N2|Q9UCX2	Silent	SNP	ENST00000380872.4	37	CCDS7061.1	14	0.00641025641025641	0	0.0	4	0.011049723756906077	0	0.0	10	0.013192612137203167	T	4.162	0.028587	0.08054	0.007036	0.009419	ENSG00000187134	ENST00000442997	.	.	.	2.95	-1.58	0.08479	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39702	-0.9601	4	.	.	.	.	7.1824	0.25780	0.0:0.3767:0.0:0.6233	rs11548049	.	.	.	T	76	.	.	I	+	2	0	AKR1C1	4999193	0.541000	0.26417	0.077000	0.20336	0.011000	0.07611	-0.389000	0.07342	-0.182000	0.10602	-0.718000	0.03613	ATT		0.398	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		C	5009193	T	C	5009193	2	2	126	1	0	0	0	0	0	0	0	1	469	1490	52	3		3	AKR1C1	10	5009193	Silent	SNP	T	TCGA-B0-4694-01A-01D-1361-10		5009193	130525554	40	7729											
TAF3	83860	hgsc.bcm.edu	37	10	8055709	8055709	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr10:8055709G>A	ENST00000344293.5	+	6	2790	c.2584G>A	c.(2584-2586)Ggc>Agc	p.G862S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	862					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGATGAGTGGGGCAATCAGAT	0.488																																																0													138	142	141					10																	8055709		1979	4158	6137	SO:0001583	missense	83860			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2584G>A	10.37:g.8055709G>A	ENSP00000340271:p.Gly862Ser		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	36	5.847850	0.97023	.	.	ENSG00000165632	ENST00000344293	D	0.84442	-1.85	5.87	5.87	0.94306	Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000003	D	0.92130	0.7505	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87724	0.2575	10	0.15066	T	0.55	-22.4251	20.5827	0.99408	0.0:0.0:1.0:0.0	.	862	Q5VWG9	TAF3_HUMAN	S	862	ENSP00000340271:G862S	ENSP00000340271:G862S	G	+	1	0	TAF3	8095715	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.797000	0.99108	2.941000	0.99782	0.655000	0.94253	GGC		0.488	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		A	8055709	G	A	8055709	3	1	126	1	0	0	0	0	1	0	0	0	15530	1232	43	2	2606	2	TAF3	10	8055709	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	3046516	8055709	127479038	41	7730											
LRIT1	26103	hgsc.bcm.edu	37	10	85992243	85992243	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr10:85992243C>A	ENST00000372105.3	-	4	1333	c.1312G>T	c.(1312-1314)Ggg>Tgg	p.G438W		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	438	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TAAGTGTCCCCCACCACCTTC	0.592																																																0													108	83	91					10																	85992243		2203	4300	6503	SO:0001583	missense	26103			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1312G>T	10.37:g.85992243C>A	ENSP00000361177:p.Gly438Trp		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227034	0.79576	.	.	ENSG00000148602	ENST00000372105	T	0.58358	0.34	5.72	5.72	0.89469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75631	-0.3251	10	0.72032	D	0.01	.	18.6519	0.91433	0.0:1.0:0.0:0.0	.	438	Q9P2V4	LRIT1_HUMAN	W	438	ENSP00000361177:G438W	ENSP00000361177:G438W	G	-	1	0	LRIT1	85982223	0.998000	0.40836	1.000000	0.80357	0.676000	0.39594	3.763000	0.55257	2.704000	0.92352	0.655000	0.94253	GGG		0.592	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		A	85992243	C	A	85992243	3	1	126	1	0	0	0	0	1	0	0	0	8949	623	22	4	563	4	LRIT1	10	85992243	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10	77936534	85992243	49542504	42	7731											
PTEN	5728	hgsc.bcm.edu	37	10	89692884	89692884	+	Missense_Mutation	SNP	A	A	T	rs121909222		TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr10:89692884A>T	ENST00000371953.3	+	5	1725	c.368A>T	c.(367-369)cAc>cTc	p.H123L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	123	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		H -> R (in CWS1). {ECO:0000269|PubMed:10234502, ECO:0000269|PubMed:9259288}.|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.I122fs*2(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCAGCAATTCACTGTAAAGCT	0.403		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	54	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(5)|Deletion - In frame(1)	prostate(16)|central_nervous_system(14)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	GRCh37	CM971270	PTEN	M	rs121909222						139	128	132					10																	89692884		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.368A>T	10.37:g.89692884A>T	ENSP00000361021:p.His123Leu		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889397	0.91889	.	.	ENSG00000171862	ENST00000371953	D	0.99905	-7.7	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99943	0.9975	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95880	0.8898	9	.	.	.	-8.7537	15.1019	0.72284	1.0:0.0:0.0:0.0	.	123	P60484	PTEN_HUMAN	L	123	ENSP00000361021:H123L	.	H	+	2	0	PTEN	89682864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.918000	0.92759	1.953000	0.56701	0.533000	0.62120	CAC		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89692884	A	T	89692884	3	4	126	1	0	0	0	0	1	0	0	0	12743	159	6	5	386	5	PTEN	10	89692884	Missense_Mutation	SNP	A	TCGA-B0-4694-01A-01D-1361-10	3700641	89692884	45841863	43	7732											
BHLHE41	79365	hgsc.bcm.edu	37	12	26277067	26277067	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr12:26277067C>T	ENST00000242728.4	-	3	519	c.172G>A	c.(172-174)Gac>Aac	p.D58N	RP11-283G6.3_ENST00000545819.1_RNA|RP11-283G6.3_ENST00000535914.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	58	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						TTAATTCGGTCTCTTCTTTTC	0.353																																																0													128	125	126					12																	26277067		2203	4299	6502	SO:0001583	missense	79365			AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"Basic helix-loop-helix proteins"	16617	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 2", "Enhancer-of-split and hairy-related protein 1"	606200	"basic helix-loop-helix domain containing, class B, 3"	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.172G>A	12.37:g.26277067C>T	ENSP00000242728:p.Asp58Asn		A2I2N8	Missense_Mutation	SNP	ENST00000242728.4	37	CCDS8706.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234952	0.79800	.	.	ENSG00000123095	ENST00000242728;ENST00000540731	D	0.98075	-4.7	4.16	4.16	0.48862	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	U	0.000000	D	0.98074	0.9365	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98847	1.0757	10	0.72032	D	0.01	-10.8985	15.5931	0.76554	0.0:1.0:0.0:0.0	.	58	Q9C0J9	BHE41_HUMAN	N	58	ENSP00000242728:D58N	ENSP00000242728:D58N	D	-	1	0	BHLHE41	26168334	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.493000	0.81493	2.317000	0.78254	0.655000	0.94253	GAC		0.353	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762		T	26277067	C	T	26277067	3	4	126	1	0	0	0	0	1	0	0	0	1424	913	32	2	1288	2	BHLHE41	12	26277067	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10		26277067	107574828	44	7733											
SLC4A8	9498	hgsc.bcm.edu	37	12	51868167	51868167	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr12:51868167T>A	ENST00000453097.2	+	15	2163	c.1946T>A	c.(1945-1947)cTc>cAc	p.L649H	SLC4A8_ENST00000394856.1_Missense_Mutation_p.L596H|SLC4A8_ENST00000514353.3_Missense_Mutation_p.L596H|SLC4A8_ENST00000535225.2_Missense_Mutation_p.L596H|SLC4A8_ENST00000358657.3_Missense_Mutation_p.L676H	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AATCACACCCTCCAGTACTGG	0.468																																																0													170	127	141					12																	51868167		2203	4300	6503	SO:0001583	missense	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1946T>A	12.37:g.51868167T>A	ENSP00000405812:p.Leu649His			Missense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.119106	0.77323	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	4.96	4.96	0.65561	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89241	0.6659	M	0.89214	3.015	0.37275	D	0.907576	D;P;D;D;D;D	0.89917	1.0;0.574;1.0;0.994;0.985;0.996	D;P;D;D;D;D	0.91635	0.999;0.769;0.99;0.964;0.919;0.967	D	0.92466	0.5981	10	0.62326	D	0.03	.	14.0579	0.64781	0.0:0.0:0.0:1.0	.	596;676;596;649;649;649	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	H	596;676;649;596;649;596;596	ENSP00000441520:L596H;ENSP00000351483:L676H;ENSP00000405812:L649H;ENSP00000378325:L596H;ENSP00000442561:L596H	ENSP00000315789:L649H	L	+	2	0	SLC4A8	50154434	0.952000	0.32445	0.045000	0.18777	0.988000	0.76386	5.869000	0.69613	2.225000	0.72522	0.533000	0.62120	CTC		0.468	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		A	51868167	T	A	51868167	3	1	126	1	0	0	0	0	1	0	0	0	14665	1551	54	5	2004	5	SLC4A8	12	51868167	Missense_Mutation	SNP	T	TCGA-B0-4694-01A-01D-1361-10	25591100	51868167	81983728	45	7734											
ATF7	11016	hgsc.bcm.edu;ucsc.edu	37	12	53937186	53937186	+	Silent	SNP	C	C	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr12:53937186C>G	ENST00000548446.2	-	4	304	c.192G>C	c.(190-192)gtG>gtC	p.V64V	ATF7_ENST00000456903.4_Silent_p.V64V|ATF7_ENST00000420353.2_Silent_p.V64V|ATF7_ENST00000328463.7_Silent_p.V64V|RP11-793H13.10_ENST00000591834.1_Silent_p.V64V|ATF7_ENST00000415113.1_Silent_p.V64V|ATF7_ENST00000591397.1_Silent_p.V64V|ATF7_ENST00000548118.2_Silent_p.V64V			P17544	ATF7_HUMAN	activating transcription factor 7	64	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	TGAAGAGTCCCACCTCCTCAC	0.393											OREG0021875	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													77	71	73					12																	53937186		1947	4193	6140	SO:0001819	synonymous_variant	11016			X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.192G>C	12.37:g.53937186C>G		996	A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Silent	SNP	ENST00000548446.2	37																																																																																					0.393	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		G	53937186	C	G	53937186	2	3	126	1	0	0	0	0	0	0	0	1	1086	581	21	4		4	ATF7	12	53937186	Silent	SNP	C	TCGA-B0-4694-01A-01D-1361-10	2069019	53937186	79914709	46	7735											
KSR2	283455	hgsc.bcm.edu	37	12	118105409	118105409	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr12:118105409G>T	ENST00000339824.5	-	5	1768	c.1041C>A	c.(1039-1041)agC>agA	p.S347R	KSR2_ENST00000302438.5_Missense_Mutation_p.S44R|KSR2_ENST00000425217.1_Missense_Mutation_p.S318R|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	347					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S379R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTTCTCGCAGCTGCCTACGC	0.552																																																1	Substitution - Missense(1)	lung(1)											53	57	56					12																	118105409		1978	4161	6139	SO:0001583	missense	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1041C>A	12.37:g.118105409G>T	ENSP00000339952:p.Ser347Arg		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	G	9.539	1.112879	0.20795	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.51071	0.72;0.72;0.72	4.9	4.01	0.46588	.	0.110642	0.64402	D	0.000012	T	0.48447	0.1500	L	0.36672	1.1	0.50813	D	0.999895	D	0.61697	0.99	D	0.69142	0.962	T	0.50915	-0.8771	10	0.05620	T	0.96	.	8.8477	0.35181	0.1751:0.0:0.8249:0.0	.	347	Q6VAB6	KSR2_HUMAN	R	318;347;44;19	ENSP00000389715:S318R;ENSP00000339952:S347R;ENSP00000305466:S44R	ENSP00000305466:S44R	S	-	3	2	KSR2	116589792	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.391000	0.73208	1.190000	0.43042	0.563000	0.77884	AGC		0.552	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		T	118105409	G	T	118105409	3	4	126	1	0	0	0	0	1	0	0	0	8584	962	34	4	1875	4	KSR2	12	118105409	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	64168223	118105409	15746486	47	7736											
CENPJ	55835	hgsc.bcm.edu;ucsc.edu	37	13	25457359	25457359	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr13:25457359C>G	ENST00000381884.4	-	17	4158	c.3973G>C	c.(3973-3975)Gtt>Ctt	p.V1325L	CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'Flank	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1325					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTGTCCTTAACTCTTATCCGA	0.423																																																0													345	289	308					13																	25457359		2203	4300	6503	SO:0001583	missense	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3973G>C	13.37:g.25457359C>G	ENSP00000371308:p.Val1325Leu		Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108510	0.37242	.	.	ENSG00000151849	ENST00000381884	T	0.77620	-1.11	5.89	3.93	0.45458	.	0.294371	0.37178	N	0.002220	T	0.64940	0.2644	N	0.26042	0.785	0.39784	D	0.972347	B	0.26577	0.153	B	0.31686	0.134	T	0.63897	-0.6533	10	0.46703	T	0.11	.	7.5446	0.27759	0.0:0.704:0.0:0.296	.	1325	Q9HC77	CENPJ_HUMAN	L	1325	ENSP00000371308:V1325L	ENSP00000371308:V1325L	V	-	1	0	CENPJ	24355359	0.991000	0.36638	0.955000	0.39395	0.925000	0.55904	0.220000	0.17660	1.505000	0.48720	0.591000	0.81541	GTT		0.423	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		G	25457359	C	G	25457359	3	3	126	1	0	0	0	0	1	0	0	0	3236	565	20	4	47	4	CENPJ	13	25457359	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10		25457359	89712519	48	7737											
CENPJ	55835	hgsc.bcm.edu	37	13	25486101	25486101	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr13:25486101C>A	ENST00000381884.4	-	3	736	c.551G>T	c.(550-552)gGg>gTg	p.G184V	CENPJ_ENST00000545981.1_Missense_Mutation_p.G184V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	184					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TGTGCACTGCCCAGACACCAT	0.453																																																0													257	203	221					13																	25486101		2203	4300	6503	SO:0001583	missense	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.551G>T	13.37:g.25486101C>A	ENSP00000371308:p.Gly184Val		Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559717	0.45590	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.18174	2.23;2.23	6.07	3.31	0.37934	.	0.351129	0.28349	N	0.015677	T	0.20700	0.0498	M	0.72118	2.19	0.41394	D	0.987634	P	0.43352	0.804	B	0.40506	0.331	T	0.01771	-1.1277	10	0.62326	D	0.03	.	9.6335	0.39793	0.0:0.6582:0.2649:0.0769	.	184	Q9HC77	CENPJ_HUMAN	V	184	ENSP00000371308:G184V;ENSP00000441090:G184V	ENSP00000371308:G184V	G	-	2	0	CENPJ	24384101	0.445000	0.25657	0.897000	0.35233	0.369000	0.29798	0.365000	0.20348	0.390000	0.25115	-0.122000	0.15005	GGG		0.453	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		A	25486101	C	A	25486101	3	1	126	1	0	0	0	0	1	0	0	0	3236	623	22	4	3525	4	CENPJ	13	25486101	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10	28742	25486101	89683777	49	7738											
RNASE1	6035	hgsc.bcm.edu	37	14	21270037	21270037	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr14:21270037G>A	ENST00000397967.4	-	2	697	c.191C>T	c.(190-192)aCa>aTa	p.T64I	RNASE1_ENST00000340900.3_Missense_Mutation_p.T64I|RNASE1_ENST00000397970.4_Missense_Mutation_p.T64I|RNASE1_ENST00000412779.2_Missense_Mutation_p.T64I|RNASE1_ENST00000555698.1_Missense_Mutation_p.T24I	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	64					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	Guanidine(DB00536)|L-Aspartic Acid(DB00128)	CCGCCCCTGTGTCATATTCCG	0.552																																																0													120	110	113					14																	21270037		2203	4300	6503	SO:0001583	missense	6035			BC005324	CCDS9559.1	14q11.2	2014-03-13			ENSG00000129538	ENSG00000129538	3.1.27.5	"Ribonucleases, RNase A"	10044	protein-coding gene	gene with protein product		180440		RNS1		8588814	Standard	NM_002933		Approved		uc001vyi.3	P07998	OTTHUMG00000029603	ENST00000397967.4:c.191C>T	14.37:g.21270037G>A	ENSP00000381057:p.Thr64Ile		B2R589|D3DS06|Q16830|Q16869|Q1KHR2|Q6ICS5|Q9UCB4|Q9UCB5	Missense_Mutation	SNP	ENST00000397967.4	37	CCDS9559.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884338	0.51908	.	.	ENSG00000129538	ENST00000397967;ENST00000340900;ENST00000412779;ENST00000555698;ENST00000397970	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.02	5.02	0.67125	Ribonuclease A, domain (4);	0.137331	0.48767	D	0.000162	T	0.76147	0.3947	H	0.94847	3.59	0.43693	D	0.996144	D	0.89917	1.0	D	0.87578	0.998	T	0.82255	-0.0548	10	0.66056	D	0.02	-29.5264	13.7093	0.62659	0.0:0.0:1.0:0.0	.	64	P07998	RNAS1_HUMAN	I	64;64;64;24;64	ENSP00000381057:T64I;ENSP00000344193:T64I;ENSP00000399493:T64I;ENSP00000451058:T24I;ENSP00000381060:T64I	ENSP00000344193:T64I	T	-	2	0	RNASE1	20339877	0.980000	0.34600	0.945000	0.38365	0.013000	0.08279	1.959000	0.40412	2.620000	0.88729	0.561000	0.74099	ACA		0.552	RNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073791.3			A	21270037	G	A	21270037	3	1	126	1	0	0	0	0	1	0	0	0	13405	1377	48	2	283	2	RNASE1	14	21270037	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10		21270037	86079503	50	7739											
SEC23A	10484	hgsc.bcm.edu;ucsc.edu	37	14	39555078	39555078	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr14:39555078T>C	ENST00000307712.6	-	7	1233	c.716A>G	c.(715-717)aAt>aGt	p.N239S	SEC23A_ENST00000545328.2_Missense_Mutation_p.N210S|SEC23A_ENST00000536508.1_Missense_Mutation_p.N113S|SEC23A_ENST00000537403.1_Missense_Mutation_p.N37S	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	239					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATCTGTGAGATTCATGTCTAT	0.408																																																0													135	142	140					14																	39555078		2203	4300	6503	SO:0001583	missense	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.716A>G	14.37:g.39555078T>C	ENSP00000306881:p.Asn239Ser		B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	T	9.815	1.184210	0.21870	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.67	5.67	0.87782	Sec23/Sec24, trunk domain (1);	0.046444	0.85682	D	0.000000	T	0.56337	0.1978	N	0.04018	-0.295	0.58432	D	0.999998	B;B;B;B	0.11235	0.004;0.001;0.001;0.0	B;B;B;B	0.11329	0.003;0.004;0.004;0.006	T	0.56353	-0.7993	10	0.07325	T	0.83	-24.5988	15.9046	0.79412	0.0:0.0:0.0:1.0	.	127;210;113;239	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	S	37;239;113;210;127	ENSP00000444193:N37S;ENSP00000306881:N239S;ENSP00000437715:N113S;ENSP00000445393:N210S	ENSP00000306881:N239S	N	-	2	0	SEC23A	38624829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.253000	0.72453	2.164000	0.68074	0.460000	0.39030	AAT		0.408	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			C	39555078	T	C	39555078	3	2	126	1	0	0	0	0	1	0	0	0	13997	1493	52	3	1637	3	SEC23A	14	39555078	Missense_Mutation	SNP	T	TCGA-B0-4694-01A-01D-1361-10	18285041	39555078	67794462	51	7740											
KTN1	3895	hgsc.bcm.edu;ucsc.edu	37	14	56137506	56137506	+	Silent	SNP	T	T	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr14:56137506T>A	ENST00000395314.3	+	35	3395	c.3327T>A	c.(3325-3327)acT>acA	p.T1109T	KTN1_ENST00000438792.2_Silent_p.T1080T|KTN1_ENST00000416613.1_Silent_p.T1109T|KTN1_ENST00000395309.3_Silent_p.T1109T|KTN1_ENST00000395308.1_Silent_p.T1086T|KTN1_ENST00000554507.1_Silent_p.T375T|KTN1_ENST00000555573.1_Silent_p.T114T|KTN1_ENST00000395311.1_Silent_p.T1086T|KTN1_ENST00000413890.2_Silent_p.T1086T	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1109					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TGGCTGGAACTTCAGGGTCAG	0.333			T	RET	papillary thryoid																																		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													92	92	92					14																	56137506		2203	4300	6503	SO:0001819	synonymous_variant	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3327T>A	14.37:g.56137506T>A			B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	CCDS41957.1																																																																																				0.333	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			A	56137506	T	A	56137506	2	1	126	1	0	0	0	0	0	0	0	1	8587	1596	56	5		5	KTN1	14	56137506	Silent	SNP	T	TCGA-B0-4694-01A-01D-1361-10	16582428	56137506	51212034	52	7741											
LARP6	55323	hgsc.bcm.edu	37	15	71125110	71125110	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr15:71125110C>G	ENST00000299213.8	-	3	827	c.757G>C	c.(757-759)Gtg>Ctg	p.V253L	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	253	RRM.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TGGGTCCCCACTTGGCTGTAG	0.552																																																0													50	47	48					15																	71125110		2199	4297	6496	SO:0001583	missense	55323			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.757G>C	15.37:g.71125110C>G	ENSP00000299213:p.Val253Leu		Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	ENST00000299213.8	37	CCDS32281.1	.	.	.	.	.	.	.	.	.	.	C	2.632	-0.286149	0.05605	.	.	ENSG00000166173	ENST00000299213	T	0.35973	1.28	4.48	3.56	0.40772	Nucleotide-binding, alpha-beta plait (1);	0.142052	0.48767	D	0.000180	T	0.10809	0.0264	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22661	-1.0210	10	0.02654	T	1	-20.6395	10.0411	0.42158	0.0:0.9014:0.0:0.0986	.	253	Q9BRS8	LARP6_HUMAN	L	253	ENSP00000299213:V253L	ENSP00000299213:V253L	V	-	1	0	LARP6	68912164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.360000	0.44151	1.110000	0.41699	0.555000	0.69702	GTG		0.552	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		G	71125110	C	G	71125110	3	3	126	1	0	0	0	0	1	0	0	0	8634	565	20	4	722	4	LARP6	15	71125110	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10		71125110	31406282	53	7742											
SGK269	79834	hgsc.bcm.edu	37	15	77406808	77406808	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr15:77406808C>A	ENST00000560626.2	-	7	5406	c.4931G>T	c.(4930-4932)tGc>tTc	p.C1644F	PEAK1_ENST00000312493.4_Missense_Mutation_p.C1644F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1644	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATTCAGGAGGCAGCTGGCCAG	0.607																																																0													55	59	58					15																	77406808		1921	4132	6053	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4931G>T	15.37:g.77406808C>A	ENSP00000452796:p.Cys1644Phe		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330949	0.60853	.	.	ENSG00000173517	ENST00000312493	T	0.64991	-0.13	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.218796	0.34046	U	0.004311	T	0.69061	0.3069	L	0.42245	1.32	0.41691	D	0.989347	D	0.60575	0.988	P	0.61477	0.889	T	0.66544	-0.5897	10	0.34782	T	0.22	-14.2532	14.3951	0.67005	0.1477:0.8523:0.0:0.0	.	1644	Q9H792	PEAK1_HUMAN	F	1644	ENSP00000309230:C1644F	ENSP00000309230:C1644F	C	-	2	0	AC087465.1	75193863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.223000	0.65283	2.629000	0.89072	0.561000	0.74099	TGC		0.607	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			A	77406808	C	A	77406808	3	1	126	1	0	0	0	0	1	0	0	0	14217	710	25	4	313	4	SGK269	15	77406808	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10	6281698	77406808	25124584	54	7743											
UQCRC2	7385	hgsc.bcm.edu	37	16	21982911	21982911	+	Silent	SNP	T	T	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr16:21982911T>C	ENST00000268379.4	+	9	1500	c.736T>C	c.(736-738)Tta>Cta	p.L246L	UQCRC2_ENST00000561553.1_Silent_p.L246L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	246					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TGGGCTTGGTTTATCTGGTGC	0.428																																					Colon(123;450 1645 12841 25393 45623)											0													132	120	124					16																	21982911		2198	4300	6498	SO:0001819	synonymous_variant	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.736T>C	16.37:g.21982911T>C			B3KSN4|Q9BQ05	Silent	SNP	ENST00000268379.4	37	CCDS10601.1																																																																																				0.428	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		C	21982911	T	C	21982911	2	2	126	1	0	0	0	0	0	0	0	1	17025	1838	64	3		3	UQCRC2	16	21982911	Silent	SNP	T	TCGA-B0-4694-01A-01D-1361-10		21982911	68371842	55	7744											
MMP2	4313	hgsc.bcm.edu;ucsc.edu	37	16	55519658	55519658	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr16:55519658G>C	ENST00000219070.4	+	5	1310	c.801G>C	c.(799-801)aaG>aaC	p.K267N	MMP2_ENST00000570308.1_Missense_Mutation_p.K191N|MMP2_ENST00000437642.2_Missense_Mutation_p.K217N|MMP2_ENST00000543485.1_Missense_Mutation_p.K191N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	267	Collagen-binding.|Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	ACTTTGAGAAGGATGGCAAGT	0.567																																																0													133	117	123					16																	55519658		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.801G>C	16.37:g.55519658G>C	ENSP00000219070:p.Lys267Asn		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749764	0.30955	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.52295	0.67;0.67;0.67	5.06	1.42	0.22433	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.627412	0.17946	N	0.156691	T	0.31796	0.0808	L	0.41824	1.3	0.43267	D	0.995211	B;B	0.14438	0.004;0.01	B;B	0.16722	0.016;0.008	T	0.20338	-1.0278	10	0.39692	T	0.17	.	2.8726	0.05621	0.1042:0.1322:0.3923:0.3713	.	217;267	E9PE45;P08253	.;MMP2_HUMAN	N	267;191;217	ENSP00000219070:K267N;ENSP00000444143:K191N;ENSP00000394237:K217N	ENSP00000219070:K267N	K	+	3	2	MMP2	54077159	0.938000	0.31826	0.998000	0.56505	0.954000	0.61252	0.233000	0.17911	1.108000	0.41662	0.442000	0.29010	AAG		0.567	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			C	55519658	G	C	55519658	3	2	126	1	0	0	0	0	1	0	0	0	9660	991	35	4	826	4	MMP2	16	55519658	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	33536747	55519658	34835095	56	7745											
SLC12A3	6559	hgsc.bcm.edu;ucsc.edu	37	16	56938335	56938335	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr16:56938335T>G	ENST00000563236.1	+	25	2910	c.2885T>G	c.(2884-2886)aTt>aGt	p.I962S	SLC12A3_ENST00000262502.5_Missense_Mutation_p.I961S|SLC12A3_ENST00000566786.1_Missense_Mutation_p.I970S|SLC12A3_ENST00000438926.2_Missense_Mutation_p.I971S			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	962					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGAATGAGATTGTGCTGGAT	0.567																																																0													160	150	153					16																	56938335		2198	4300	6498	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2885T>G	16.37:g.56938335T>G	ENSP00000456149:p.Ile962Ser		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.359850	0.41801	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.26	5.26	0.73747	.	0.122510	0.56097	D	0.000026	T	0.73458	0.3589	L	0.54323	1.7	0.45439	D	0.998417	P;P;P	0.43633	0.483;0.716;0.813	P;P;P	0.60012	0.522;0.739;0.867	T	0.76000	-0.3119	9	0.87932	D	0	.	14.0084	0.64481	0.0:0.0:0.0:1.0	.	970;962;971	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	S	970;971	.	ENSP00000262502:I971S	I	+	2	0	SLC12A3	55495836	1.000000	0.71417	0.998000	0.56505	0.065000	0.16274	7.755000	0.85180	1.970000	0.57323	0.460000	0.39030	ATT		0.567	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			G	56938335	T	G	56938335	3	3	126	1	0	0	0	0	1	0	0	0	14390	1493	52	5	3010	5	SLC12A3	16	56938335	Missense_Mutation	SNP	T	TCGA-B0-4694-01A-01D-1361-10	1418677	56938335	33416418	57	7746											
FAM57A	79850	hgsc.bcm.edu;ucsc.edu	37	17	641269	641269	+	Silent	SNP	C	C	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr17:641269C>A	ENST00000308278.8	+	3	626	c.390C>A	c.(388-390)gtC>gtA	p.V130V	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Silent_p.V130V	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	130	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TTCTCTTTGTCCTTGTGCCAG	0.512																																																0													102	87	92					17																	641269		2203	4300	6503	SO:0001819	synonymous_variant	79850			AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.390C>A	17.37:g.641269C>A			A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Silent	SNP	ENST00000308278.8	37	CCDS10996.1																																																																																				0.512	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		A	641269	C	A	641269	2	1	126	1	0	0	0	0	0	0	0	1	5590	842	30	4		4	FAM57A	17	641269	Silent	SNP	C	TCGA-B0-4694-01A-01D-1361-10		641269	80553941	58	7747											
ZMYND15	84225	hgsc.bcm.edu	37	17	4645276	4645276	+	Silent	SNP	T	T	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr17:4645276T>C	ENST00000433935.1	+	4	951	c.894T>C	c.(892-894)ggT>ggC	p.G298G	ZMYND15_ENST00000592813.1_Silent_p.G298G|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000573751.2_Silent_p.G298G|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000269289.6_Silent_p.G298G	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	298					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGACATGGGGTCCCCGGCCAG	0.577																																																0													79	85	83					17																	4645276		2203	4300	6503	SO:0001819	synonymous_variant	84225			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.894T>C	17.37:g.4645276T>C			B4DXY5|I3L296	Silent	SNP	ENST00000433935.1	37	CCDS45584.1																																																																																				0.577	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		C	4645276	T	C	4645276	2	2	126	1	0	0	0	0	0	0	0	1	17713	1654	58	3		3	ZMYND15	17	4645276	Silent	SNP	T	TCGA-B0-4694-01A-01D-1361-10	4004007	4645276	76549934	59	7748											
NF1	4763	hgsc.bcm.edu;ucsc.edu	37	17	29665755	29665755	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr17:29665755T>C	ENST00000358273.4	+	46	7236	c.6853T>C	c.(6853-6855)Tac>Cac	p.Y2285H	NF1_ENST00000356175.3_Missense_Mutation_p.Y2264H|NF1_ENST00000444181.2_Missense_Mutation_p.Y78H|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2285					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.Y2285fs*5(6)|p.?(3)|p.Y2285fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCTGACACTTACAACAGTCA	0.313			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	18	Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(3)	soft_tissue(8)|central_nervous_system(6)|autonomic_ganglia(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)	GRCh37	CI972654	NF1	I							86	85	85					17																	29665755		2203	4296	6499	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6853T>C	17.37:g.29665755T>C	ENSP00000351015:p.Tyr2285His		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.732650	0.69189	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.64991	3.21;3.36;3.06;-0.13	5.91	5.91	0.95273	Armadillo-type fold (2);	0.056060	0.85682	D	0.000000	T	0.46405	0.1391	N	0.22421	0.69	0.80722	D	1	B;P	0.44344	0.126;0.833	B;B	0.40534	0.191;0.332	T	0.41342	-0.9514	10	0.16420	T	0.52	.	12.1987	0.54313	0.0:0.0681:0.0:0.9319	.	2264;2285	P21359-2;P21359	.;NF1_HUMAN	H	2285;2264;1930;78	ENSP00000351015:Y2285H;ENSP00000348498:Y2264H;ENSP00000389907:Y1930H;ENSP00000396481:Y78H	ENSP00000348498:Y2264H	Y	+	1	0	NF1	26689881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.418000	0.80167	2.270000	0.75569	0.528000	0.53228	TAC		0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29665755	T	C	29665755	3	2	126	1	0	0	0	0	1	0	0	0	10358	1754	61	3	7096	3	NF1	17	29665755	Missense_Mutation	SNP	T	TCGA-B0-4694-01A-01D-1361-10	25020479	29665755	51529455	60	7749											
NLE1	54475	hgsc.bcm.edu	37	17	33463419	33463419	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr17:33463419G>C	ENST00000442241.4	-	8	965	c.926C>G	c.(925-927)gCt>gGt	p.A309G	NLE1_ENST00000360831.5_Missense_Mutation_p.A267G|NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000586869.1_Missense_Mutation_p.A17G	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	309					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TGAGGCCTCAGCAGGTTCAAA	0.582																																																0													146	159	155					17																	33463419		2203	4300	6503	SO:0001583	missense	54475				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.926C>G	17.37:g.33463419G>C	ENSP00000413572:p.Ala309Gly		O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.90|12.90	2.075831|2.075831	0.36662|0.36662	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000442241;ENST00000360831;ENST00000537697|ENST00000436188	T|.	0.58940|.	0.3|.	5.44|5.44	5.44|5.44	0.79542|0.79542	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61198|0.61198	0.2328|0.2328	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	B;P|.	0.45634|.	0.009;0.863|.	B;P|.	0.45538|.	0.022;0.484|.	T|T	0.54761|0.54761	-0.8245|-0.8245	10|5	0.44086|.	T|.	0.13|.	-13.5415|-13.5415	16.8112|16.8112	0.85720|0.85720	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	285;309|.	B4E074;Q9NVX2|.	.;NLE1_HUMAN|.	G|V	309;17;285|89	ENSP00000413572:A309G|.	ENSP00000354075:A17G|.	A|L	-|-	2|1	0|2	NLE1|NLE1	30487532|30487532	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.997000|0.997000	0.91878|0.91878	8.897000|8.897000	0.92532|0.92532	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.582	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		C	33463419	G	C	33463419	3	2	126	1	0	0	0	0	1	0	0	0	10462	971	34	4	555	4	NLE1	17	33463419	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	3797664	33463419	47731791	61	7750											
VPS25	84313	hgsc.bcm.edu	37	17	40925801	40925801	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr17:40925801C>G	ENST00000253794.2	+	2	144	c.104C>G	c.(103-105)tCg>tGg	p.S35W		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	35					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GCCTGGTGCTCGCTGGTCCTG	0.607																																																0													77	80	79					17																	40925801		2203	4300	6503	SO:0001583	missense	84313			AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"vacuolar protein sorting 25 (yeast)"			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.104C>G	17.37:g.40925801C>G	ENSP00000253794:p.Ser35Trp		B2R581	Missense_Mutation	SNP	ENST00000253794.2	37	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266472	0.95399	.	.	ENSG00000131475	ENST00000253794	T	0.48836	0.8	5.64	5.64	0.86602	ESCRT-II complex, Vps25 subunit, N-terminal winged helix (1);	0.056972	0.64402	D	0.000001	T	0.74450	0.3718	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.78396	-0.2220	10	0.72032	D	0.01	-12.6311	19.2976	0.94129	0.0:1.0:0.0:0.0	.	35	Q9BRG1	VPS25_HUMAN	W	35	ENSP00000253794:S35W	ENSP00000253794:S35W	S	+	2	0	VPS25	38179327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.200000	0.77838	2.664000	0.90586	0.655000	0.94253	TCG		0.607	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		G	40925801	C	G	40925801	3	3	126	1	0	0	0	0	1	0	0	0	17201	893	31	4	110	4	VPS25	17	40925801	Missense_Mutation	SNP	C	TCGA-B0-4694-01A-01D-1361-10	7462382	40925801	40269409	62	7751											
GPATCH8	23131	hgsc.bcm.edu;ucsc.edu	37	17	42475564	42475564	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr17:42475564G>C	ENST00000591680.1	-	8	3911	c.3881C>G	c.(3880-3882)aCa>aGa	p.T1294R	GPATCH8_ENST00000434000.1_Missense_Mutation_p.T1216R	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1294							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGCCCCATCTGTTGACTCAAT	0.577																																																0													106	101	102					17																	42475564		2203	4300	6503	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3881C>G	17.37:g.42475564G>C	ENSP00000467556:p.Thr1294Arg		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	0.156	-1.086596	0.01873	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.11277	2.79	4.52	3.56	0.40772	.	1.018130	0.07830	N	0.961197	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.42344	-0.9457	10	0.21014	T	0.42	-0.624	4.6923	0.12786	0.0857:0.1481:0.6138:0.1523	.	1294	Q9UKJ3	GPTC8_HUMAN	R	1294;1216	ENSP00000395016:T1216R	ENSP00000335486:T1294R	T	-	2	0	GPATCH8	39831090	0.049000	0.20398	0.857000	0.33713	0.914000	0.54420	1.643000	0.37217	1.128000	0.42052	0.460000	0.39030	ACA		0.577	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		C	42475564	G	C	42475564	3	2	126	1	0	0	0	0	1	0	0	0	6596	1377	48	4	631	4	GPATCH8	17	42475564	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	1549763	42475564	38719646	63	7752											
ACE	1636	hgsc.bcm.edu;ucsc.edu	37	17	61557828	61557828	+	Silent	SNP	G	G	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr17:61557828G>A	ENST00000290866.4	+	5	810	c.786G>A	c.(784-786)ctG>ctA	p.L262L	ACE_ENST00000428043.1_Silent_p.L262L|ACE_ENST00000538928.1_Silent_p.L262L|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	262	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCCGCGCACTGCATCGCCGAT	0.597																																																0													168	146	154					17																	61557828		2203	4300	6503	SO:0001819	synonymous_variant	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.786G>A	17.37:g.61557828G>A			B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	CCDS11637.1																																																																																				0.597	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			A	61557828	G	A	61557828	2	1	126	1	0	0	0	0	0	0	0	1	136	1306	46	2		2	ACE	17	61557828	Silent	SNP	G	TCGA-B0-4694-01A-01D-1361-10	19082264	61557828	19637382	64	7753											
SLC16A6	9120	hgsc.bcm.edu;ucsc.edu	37	17	66268860	66268860	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr17:66268860T>A	ENST00000327268.4	-	5	589	c.425A>T	c.(424-426)cAa>cTa	p.Q142L	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.Q142L	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	142					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)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GCCAAAATATTGTGATAGGAT	0.443																																																0													171	155	160					17																	66268860		2203	4300	6503	SO:0001583	missense	9120			U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.425A>T	17.37:g.66268860T>A	ENSP00000319991:p.Gln142Leu		Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728076	0.30593	.	.	ENSG00000108932	ENST00000327268	T	0.37584	1.19	5.41	4.27	0.50696	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.123604	0.56097	D	0.000029	T	0.32852	0.0843	L	0.49126	1.545	0.58432	D	0.999999	B	0.14012	0.009	B	0.20384	0.029	T	0.14227	-1.0480	10	0.42905	T	0.14	.	11.4967	0.50413	0.1339:0.0:0.0:0.8661	.	142	O15403	MOT7_HUMAN	L	142	ENSP00000319991:Q142L	ENSP00000319991:Q142L	Q	-	2	0	SLC16A6	63780455	1.000000	0.71417	0.996000	0.52242	0.680000	0.39746	3.727000	0.54984	2.171000	0.68590	0.533000	0.62120	CAA		0.443	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		A	66268860	T	A	66268860	3	1	126	1	0	0	0	0	1	0	0	0	14418	1812	63	5	1158	5	SLC16A6	17	66268860	Missense_Mutation	SNP	T	TCGA-B0-4694-01A-01D-1361-10	4711032	66268860	14926350	65	7754											
LAMA1	284217	hgsc.bcm.edu;ucsc.edu	37	18	7008502	7008502	+	Silent	SNP	C	C	T	rs374423781		TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr18:7008502C>T	ENST00000389658.3	-	28	4200	c.4107G>A	c.(4105-4107)gtG>gtA	p.V1369V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1369	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATGAGAATCCCACAGTGCCAG	0.453																																																0													103	91	95					18																	7008502		2203	4300	6503	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4107G>A	18.37:g.7008502C>T				Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7008502	C	T	7008502	2	4	126	1	0	0	0	0	0	0	0	1	8607	581	21	2		2	LAMA1	18	7008502	Silent	SNP	C	TCGA-B0-4694-01A-01D-1361-10		7008502	71068746	66	7755											
C18orf55	29090	hgsc.bcm.edu	37	18	71825486	71825486	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr18:71825486G>A	ENST00000169551.6	+	5	915	c.617G>A	c.(616-618)gGa>gAa	p.G206E		NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	206					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											GGGAAGCAAGGAACGGTGTAT	0.453																																																0													106	107	107					18																	71825486		2203	4300	6503	SO:0001583	missense	0			BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"chromosome 18 open reading frame 55"	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.617G>A	18.37:g.71825486G>A	ENSP00000169551:p.Gly206Glu		Q9P010	Missense_Mutation	SNP	ENST00000169551.6	37	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253399	0.39797	.	.	ENSG00000075336	ENST00000169551	T	0.70631	-0.5	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86015	0.1503	10	0.87932	D	0	-27.7639	19.5505	0.95315	0.0:0.0:1.0:0.0	.	206	Q9BVV7	TI21L_HUMAN	E	206	ENSP00000169551:G206E	ENSP00000169551:G206E	G	+	2	0	C18orf55	69976466	1.000000	0.71417	0.955000	0.39395	0.344000	0.29017	9.444000	0.97578	2.618000	0.88619	0.563000	0.77884	GGA		0.453	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		A	71825486	G	A	71825486	3	1	126	1	0	0	0	0	1	0	0	0	1907	1174	41	2	635	2	C18orf55	18	71825486	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	64816984	71825486	6251762	67	7756											
IL12RB1	3594	hgsc.bcm.edu	37	19	18174754	18174754	+	Missense_Mutation	SNP	G	G	A	rs372578469		TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr19:18174754G>A	ENST00000600835.2	-	14	1848	c.1550C>T	c.(1549-1551)aCg>aTg	p.T517M	IL12RB1_ENST00000593993.2_Missense_Mutation_p.T517M			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	517	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CACCTGCACCGTGTAGGCTAC	0.632																																																0								G	MET/THR	1,4103		0,1,2051	32	36	35		1550	-1.9	0	19		35	1,8401		0,1,4200	no	missense	IL12RB1	NM_005535.1	81	0,2,6251	AA,AG,GG		0.0119,0.0244,0.016	benign	517/663	18174754	2,12504	2052	4201	6253	SO:0001583	missense	3594			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1550C>T	19.37:g.18174754G>A	ENSP00000470788:p.Thr517Met		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444984	0.25987	2.44E-4	1.19E-4	ENSG00000096996	ENST00000430026	T	0.59638	0.25	3.21	-1.92	0.07618	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.340040	0.05181	N	0.501327	T	0.31544	0.0800	N	0.17474	0.49	0.09310	N	1	P;P	0.44006	0.789;0.824	B;B	0.34536	0.116;0.185	T	0.20874	-1.0262	10	0.41790	T	0.15	-2.0647	1.4865	0.02447	0.1208:0.1695:0.3014:0.4083	.	517;517	P42701-2;P42701	.;I12R1_HUMAN	M	517	ENSP00000403103:T517M	ENSP00000403103:T517M	T	-	2	0	IL12RB1	18035754	0.007000	0.16637	0.001000	0.08648	0.352000	0.29268	-0.050000	0.11904	-0.277000	0.09193	0.491000	0.48974	ACG		0.632	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			A	18174754	G	A	18174754	3	1	126	1	0	0	0	0	1	0	0	0	7628	1145	40	1	458	1	IL12RB1	19	18174754	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10		18174754	40954229	68	7757											
WDR62	284403	hgsc.bcm.edu	37	19	36575625	36575625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr19:36575625G>T	ENST00000270301.7	+	12	1621	c.1621G>T	c.(1621-1623)Gag>Tag	p.E541*	WDR62_ENST00000401500.2_Nonsense_Mutation_p.E541*			O43379	WDR62_HUMAN	WD repeat domain 62	541					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTGTGCCTGGAGTACTCCAA	0.652																																																0													97	78	85					19																	36575625		2203	4300	6503	SO:0001587	stop_gained	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1621G>T	19.37:g.36575625G>T	ENSP00000270301:p.Glu541*		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Nonsense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	38	6.947420	0.97956	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	.	.	.	5.15	5.15	0.70609	.	0.061187	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-29.0202	16.4688	0.84094	0.0:0.0:1.0:0.0	.	.	.	.	X	541	.	ENSP00000270301:E541X	E	+	1	0	WDR62	41267465	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.156000	0.94705	2.558000	0.86282	0.561000	0.74099	GAG		0.652	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		T	36575625	G	T	36575625	4	4	126	1	0	0	0	0	0	1	0	0	17318	1175	41	4	1667	4	WDR62	19	36575625	Nonsense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	18400871	36575625	22553358	69	7758											
ZNF787	126208	hgsc.bcm.edu;ucsc.edu	37	19	56614566	56614566	+	Silent	SNP	G	G	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr19:56614566G>C	ENST00000270459.3	-	2	139	c.21C>G	c.(19-21)gcC>gcG	p.A7A	ZNF787_ENST00000587279.1_Silent_p.A7A|Y_RNA_ENST00000411128.1_RNA	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CCGGAGACCAGGCTTCTTCCC	0.647																																																0													41	47	45					19																	56614566		1959	4142	6101	SO:0001819	synonymous_variant	126208			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.21C>G	19.37:g.56614566G>C			O00455	Silent	SNP	ENST00000270459.3	37	CCDS42634.1																																																																																				0.647	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		C	56614566	G	C	56614566	2	2	126	1	0	0	0	0	0	0	0	1	18164	987	35	4		4	ZNF787	19	56614566	Silent	SNP	G	TCGA-B0-4694-01A-01D-1361-10	20038941	56614566	2514417	70	7759											
DDX27	55661	hgsc.bcm.edu	37	20	47835898	47835898	+	Silent	SNP	A	A	G			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr20:47835898A>G	ENST00000371764.4	+	1	15	c.6A>G	c.(4-6)gtA>gtG	p.V2V	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	2						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GACGCATGGTACTTGCGCAAA	0.607																																																0													74	61	65					20																	47835898		2203	4300	6503	SO:0001819	synonymous_variant	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.6A>G	20.37:g.47835898A>G			A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	CCDS13416.1																																																																																				0.607	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			G	47835898	A	G	47835898	2	3	126	1	0	0	0	0	0	0	0	1	4356	378	14	3		3	DDX27	20	47835898	Silent	SNP	A	TCGA-B0-4694-01A-01D-1361-10		47835898	15189622	71	7760											
SLC7A4	6545	hgsc.bcm.edu;ucsc.edu	37	22	21383473	21383473	+	Missense_Mutation	SNP	G	G	T	rs538054806		TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr22:21383473G>T	ENST00000382932.2	-	5	1846	c.1779C>A	c.(1777-1779)aaC>aaA	p.N593K	SLC7A4_ENST00000403586.1_Missense_Mutation_p.N593K|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	593					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTCCCGCTGGTTCTCCTTGC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19996	0.0		0.001	False		,,,				2504	0.0															0													76	74	75					22																	21383473		2203	4300	6503	SO:0001583	missense	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1779C>A	22.37:g.21383473G>T	ENSP00000372390:p.Asn593Lys		Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155561	0.21454	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.85171	-1.95;-1.95	5.32	2.06	0.26882	.	0.153902	0.64402	D	0.000016	T	0.70885	0.3275	N	0.14661	0.345	0.34788	D	0.735477	P	0.42827	0.791	B	0.42593	0.392	T	0.70741	-0.4789	10	0.13470	T	0.59	.	9.7278	0.40342	0.248:0.0:0.752:0.0	.	593	O43246	CTR4_HUMAN	K	593	ENSP00000384278:N593K;ENSP00000372390:N593K	ENSP00000372390:N593K	N	-	3	2	SLC7A4	19713473	0.920000	0.31207	0.988000	0.46212	0.434000	0.31775	1.524000	0.35942	0.731000	0.32448	0.561000	0.74099	AAC		0.617	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		T	21383473	G	T	21383473	3	4	126	1	0	0	0	0	1	0	0	0	14705	1252	44	4	132	4	SLC7A4	22	21383473	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10		21383473	29921093	72	7761											
PLA2G6	8398	hgsc.bcm.edu;ucsc.edu	37	22	38509556	38509556	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr22:38509556G>A	ENST00000332509.3	-	15	2323	c.2140C>T	c.(2140-2142)Ccc>Tcc	p.P714S	BAIAP2L2_ENST00000381669.3_5'Flank|PLA2G6_ENST00000402064.1_Missense_Mutation_p.P660S|BAIAP2L2_ENST00000332536.5_5'Flank|PLA2G6_ENST00000335539.3_Missense_Mutation_p.P660S	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	714					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AGCTCCCAGGGGTTGCTGGGA	0.607																																																0													117	102	107					22																	38509556		2203	4300	6503	SO:0001583	missense	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.2140C>T	22.37:g.38509556G>A	ENSP00000333142:p.Pro714Ser		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892887	0.91889	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.76316	-1.01;-1.01;-1.01	4.54	4.54	0.55810	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.117768	0.64402	D	0.000014	D	0.85230	0.5649	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.87578	0.998;0.852	D	0.86989	0.2109	10	0.66056	D	0.02	-21.4165	17.3155	0.87222	0.0:0.0:1.0:0.0	.	660;714	O60733-2;O60733	.;PA2G6_HUMAN	S	714;575;660;660	ENSP00000333142:P714S;ENSP00000335149:P660S;ENSP00000386100:P660S	ENSP00000333142:P714S	P	-	1	0	PLA2G6	36839502	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.310000	0.96267	2.070000	0.61991	0.561000	0.74099	CCC		0.607	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		A	38509556	G	A	38509556	3	1	126	1	0	0	0	0	1	0	0	0	12010	1232	43	2	292	2	PLA2G6	22	38509556	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	17126083	38509556	12795010	73	7762											
POLDIP3	84271	hgsc.bcm.edu;ucsc.edu	37	22	42992326	42992326	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chr22:42992326G>C	ENST00000252115.5	-	5	783	c.679C>G	c.(679-681)Ctc>Gtc	p.L227V	POLDIP3_ENST00000348657.2_Missense_Mutation_p.L198V|POLDIP3_ENST00000451060.2_Missense_Mutation_p.L71V|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	227					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						ACTTTGGTGAGAGGGAGGGCC	0.488																																					Ovarian(52;967 1128 5875 19997 42537)											0													115	106	109					22																	42992326		2203	4300	6503	SO:0001583	missense	84271				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"RNA binding motif (RRM) containing"	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.679C>G	22.37:g.42992326G>C	ENSP00000252115:p.Leu227Val		A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959349	0.53400	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000415122;ENST00000451060	.	.	.	5.82	5.82	0.92795	.	0.118518	0.64402	D	0.000017	T	0.48696	0.1514	M	0.61703	1.905	0.36836	D	0.887157	P;P;P;P	0.49090	0.867;0.75;0.919;0.75	B;B;B;B	0.38264	0.261;0.2;0.269;0.2	T	0.62067	-0.6932	9	0.52906	T	0.07	-20.3284	13.3228	0.60442	0.0719:0.0:0.9281:0.0	.	244;223;198;227	B4E0L0;Q96DI9;Q9BY77-2;Q9BY77	.;.;.;PDIP3_HUMAN	V	198;227;198;71	.	ENSP00000252115:L227V	L	-	1	0	POLDIP3	41322270	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.962000	0.63687	2.756000	0.94617	0.563000	0.77884	CTC		0.488	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		C	42992326	G	C	42992326	3	2	126	1	0	0	0	0	1	0	0	0	12197	942	33	4	606	4	POLDIP3	22	42992326	Missense_Mutation	SNP	G	TCGA-B0-4694-01A-01D-1361-10	4482770	42992326	8312240	74	7763											
FRMPD4	9758	hgsc.bcm.edu;ucsc.edu	37	X	12736245	12736245	+	Silent	SNP	G	G	C	rs373119872		TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chrX:12736245G>C	ENST00000380682.1	+	16	3806	c.3300G>C	c.(3298-3300)ggG>ggC	p.G1100G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1100					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTGAAGGTGGGATGGCTGAAA	0.502																																																0													139	138	138					X																	12736245		2203	4300	6503	SO:0001819	synonymous_variant	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3300G>C	X.37:g.12736245G>C			A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.502	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		C	12736245	G	C	12736245	2	2	126	1	0	0	0	0	0	0	0	1	6061	1161	41	4		4	FRMPD4	23	12736245	Silent	SNP	G	TCGA-B0-4694-01A-01D-1361-10		12736245	142534315	75	7764											
KDM5C	8242	ucsc.edu	37	X	53240028	53240031	+	Frame_Shift_Del	DEL	GGTA	GGTA	-			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	GGTA	GGTA	GGTA	-	GGTA	GGTA	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chrX:53240028_53240031delGGTA	ENST00000375401.3	-	11	1942_1945	c.1410_1413delTACC	c.(1408-1413)gctaccfs	p.AT470fs	KDM5C_ENST00000375383.3_Frame_Shift_Del_p.AT429fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.AT470fs|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.AT469fs|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000452825.3_Frame_Shift_Del_p.AT403fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	470	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCCAACCACTGGTAGCATACTCCT	0.461			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0																																										SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1410_1413delTACC	X.37:g.53240028_53240031delGGTA	ENSP00000364550:p.Ala470fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.461	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		-	53240031	GGTA	-	53240028	7	5	126	1	0	1	0	1	0	0	0	0	8137	1335	47	0	3431	0	KDM5C	23	53240028	Frame_Shift_Del	DEL	GGTA	TCGA-B0-4694-01A-01D-1361-10	40503783	53240028	102030532	76	7765											
L1CAM	3897	hgsc.bcm.edu	37	X	153131183	153131183	+	Silent	SNP	G	G	A			TCGA-B0-4694-01A-01D-1361-10	TCGA-B0-4694-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	41bb1730-882b-4f39-9152-fbb07c030941	5aa17238-3462-4d47-b59d-459418de9e98	g.chrX:153131183G>A	ENST00000370060.1	-	20	2712	c.2523C>T	c.(2521-2523)gtC>gtT	p.V841V	L1CAM_ENST00000361699.4_Silent_p.V841V|L1CAM_ENST00000361981.3_Silent_p.V836V|L1CAM_ENST00000538883.1_Silent_p.V843V|L1CAM_ENST00000543994.1_Silent_p.V843V|L1CAM_ENST00000370055.1_Silent_p.V836V|L1CAM_ENST00000370057.3_Silent_p.V841V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	841	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.V841V(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGCCCTTGACCTGGGCCA	0.602																																																1	Substitution - coding silent(1)	ovary(1)											91	95	94					X																	153131183		2203	4300	6503	SO:0001819	synonymous_variant	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2523C>T	X.37:g.153131183G>A			A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	CCDS14733.1																																																																																				0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		A	153131183	G	A	153131183	2	1	126	1	0	0	0	0	0	0	0	1	8590	1277	45	2		2	L1CAM	23	153131183	Silent	SNP	G	TCGA-B0-4694-01A-01D-1361-10	99891155	153131183	2139377	77	7766											
NPHS2	7827	hgsc.bcm.edu	37	1	179521759	179521759	+	Silent	SNP	C	C	A	rs371664350		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr1:179521759C>A	ENST00000367615.4	-	7	920	c.852G>T	c.(850-852)gcG>gcT	p.A284A	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Silent_p.A216A	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	284					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTTGTCTTTGCGCTTCAGCCT	0.527																																																0													62	55	57					1																	179521759		2203	4300	6503	SO:0001819	synonymous_variant	7827			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.852G>T	1.37:g.179521759C>A			B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	CCDS1331.1																																																																																				0.527	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			A	179521759	C	A	179521759	2	1	127	1	0	0	0	0	0	0	0	1	10585	755	27	4		4	NPHS2	1	179521759	Silent	SNP	C	TCGA-B0-4697-01A-01D-1361-10		179521759	69728862	1	7767											
C1orf65	164127	hgsc.bcm.edu	37	1	223568115	223568115	+	Missense_Mutation	SNP	G	G	T	rs560005249		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr1:223568115G>T	ENST00000366875.3	+	1	1401	c.1298G>T	c.(1297-1299)cGg>cTg	p.R433L		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		433										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TACCAGGCCCGGAAGGTCCTC	0.602																																																0													39	34	36					1																	223568115		2203	4299	6502	SO:0001583	missense	164127																														ENST00000366875.3:c.1298G>T	1.37:g.223568115G>T	ENSP00000355840:p.Arg433Leu		Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875707	0.51695	.	.	ENSG00000178395	ENST00000366875	T	0.21361	2.01	5.59	3.69	0.42338	.	.	.	.	.	T	0.30759	0.0775	L	0.54323	1.7	0.36534	D	0.87092	D	0.61697	0.99	P	0.61397	0.888	T	0.28170	-1.0052	9	0.35671	T	0.21	.	4.2902	0.10874	0.0845:0.1579:0.5942:0.1634	.	433	Q8N715	CA065_HUMAN	L	433	ENSP00000355840:R433L	ENSP00000355840:R433L	R	+	2	0	C1orf65	221634738	0.999000	0.42202	0.845000	0.33349	0.984000	0.73092	4.841000	0.62824	0.695000	0.31675	0.655000	0.94253	CGG		0.602	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			T	223568115	G	T	223568115	3	4	127	1	0	0	0	0	1	0	0	0	2057	1116	39	4	1300	4	C1orf65	1	223568115	Missense_Mutation	SNP	G	TCGA-B0-4697-01A-01D-1361-10	44046356	223568115	25682506	2	7768											
RHOB	388	hgsc.bcm.edu	37	2	20647607	20647607	+	Silent	SNP	C	C	A	rs199604392		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr2:20647607C>A	ENST00000272233.4	+	1	773	c.381C>A	c.(379-381)gtC>gtA	p.V127V		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	127					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	ACGAGCATGTCCGCACAGAGC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18378	0.0		0.001	False		,,,				2504	0.0															0													71	75	74					2																	20647607		2203	4300	6503	SO:0001819	synonymous_variant	388				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"oncogene RHO H6"	165370	"ras homolog gene family, member B"	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.381C>A	2.37:g.20647607C>A			B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Silent	SNP	ENST00000272233.4	37	CCDS1699.1																																																																																				0.622	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1	NM_004040		A	20647607	C	A	20647607	2	1	127	1	0	0	0	0	0	0	0	1	13338	842	30	4		4	RHOB	2	20647607	Silent	SNP	C	TCGA-B0-4697-01A-01D-1361-10		20647607	222551766	3	7769											
SPTBN1	6711	hgsc.bcm.edu	37	2	54753688	54753688	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr2:54753688A>T	ENST00000356805.4	+	2	414	c.133A>T	c.(133-135)Atc>Ttc	p.I45F	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	45	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCGGTCCCGCATCAAGGCTCT	0.547																																																0													93	85	87					2																	54753688		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.133A>T	2.37:g.54753688A>T	ENSP00000349259:p.Ile45Phe		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028248	0.75390	.	.	ENSG00000115306	ENST00000356805;ENST00000389980	T;T	0.59638	0.25;0.25	5.77	5.77	0.91146	Calponin homology domain (1);	0.117788	0.56097	N	0.000026	T	0.66376	0.2783	M	0.80616	2.505	0.80722	D	1	B	0.28082	0.2	B	0.36030	0.216	T	0.67585	-0.5633	10	0.56958	D	0.05	.	16.1043	0.81209	1.0:0.0:0.0:0.0	.	45	Q01082	SPTB2_HUMAN	F	45	ENSP00000349259:I45F;ENSP00000374630:I45F	ENSP00000349259:I45F	I	+	1	0	SPTBN1	54607192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.310000	0.96267	2.201000	0.70794	0.528000	0.53228	ATC		0.547	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54753688	A	T	54753688	3	4	127	1	0	0	0	0	1	0	0	0	15124	217	8	5	135	5	SPTBN1	2	54753688	Missense_Mutation	SNP	A	TCGA-B0-4697-01A-01D-1361-10	34106081	54753688	188445685	4	7770											
SULT1C2	6819	hgsc.bcm.edu	37	2	108910186	108910186	+	Silent	SNP	G	G	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr2:108910186G>T	ENST00000437390.2	+	2	240	c.63G>T	c.(61-63)ctG>ctT	p.L21L	SULT1C2_ENST00000492554.1_3'UTR|SULT1C2_ENST00000326853.5_Silent_p.L21L|SULT1C2_ENST00000409880.1_Silent_p.L21L|SULT1C2_ENST00000251481.6_Silent_p.L21L			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	27					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGACCCTCCTGCAGCCTGCAA	0.542																																																0													85	77	79					2																	108910186		2203	4300	6503	SO:0001819	synonymous_variant	6819			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"Sulfotransferases, cytosolic"	11456	protein-coding gene	gene with protein product		602385	"sulfotransferase family, cytosolic, 1C, member 1"	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.63G>T	2.37:g.108910186G>T			Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000437390.2	37		.	.	.	.	.	.	.	.	.	.	G	4.647	0.120256	0.08881	.	.	ENSG00000198203	ENST00000409067	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.71367	0.3331	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70710	-0.4797	4	.	.	.	.	15.7356	0.77839	0.0:0.0:1.0:0.0	.	.	.	.	S	18	.	.	A	+	1	0	SULT1C2	108276618	0.000000	0.05858	0.736000	0.30914	0.395000	0.30598	0.245000	0.18142	2.300000	0.77407	0.561000	0.74099	GCA		0.542	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		T	108910186	G	T	108910186	2	4	127	1	0	0	0	0	0	0	0	1	15382	1306	46	4		4	SULT1C2	2	108910186	Silent	SNP	G	TCGA-B0-4697-01A-01D-1361-10	54156498	108910186	134289187	5	7771											
PRKRA	8575	hgsc.bcm.edu	37	2	179307992	179307992	+	Splice_Site	SNP	A	A	T	rs201254634		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr2:179307992A>T	ENST00000325748.4	-	5	715		c.e5+1		PRKRA_ENST00000432031.2_Splice_Site|PRKRA_ENST00000438687.3_Splice_Site|PRKRA_ENST00000487082.1_Splice_Site|PRKRA_ENST00000470200.1_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator						cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AGAAATAAGTACCAGTTTCCA	0.348																																					Melanoma(200;68 3001 23825 48764)											0													62	63	63					2																	179307992		2203	4300	6503	SO:0001630	splice_region_variant	8575			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"protein activator of the interferon-induced protein kinase"	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.514+1T>A	2.37:g.179307992A>T			A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Splice_Site	SNP	ENST00000325748.4	37	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006024	0.74932	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6848	0.62508	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKRA	179016238	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.549000	0.82163	2.051000	0.60960	0.528000	0.53228	.		0.348	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	Intron	T	179307992	A	T	179307992	5	4	127	1	0	0	0	0	0	0	1	0	12529	405	14	5	441	5	PRKRA	2	179307992	Splice_Site	SNP	A	TCGA-B0-4697-01A-01D-1361-10	70397806	179307992	63891381	6	7772											
ZNF385D	79750	hgsc.bcm.edu	37	3	21706406	21706406	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr3:21706406G>T	ENST00000281523.2	-	2	655	c.137C>A	c.(136-138)gCa>gAa	p.A46E	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	46						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAGGTTGACTGCAGCTGCAGT	0.498																																																0													108	101	103					3																	21706406		2203	4300	6503	SO:0001583	missense	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.137C>A	3.37:g.21706406G>T	ENSP00000281523:p.Ala46Glu			Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387874	0.61956	.	.	ENSG00000151789	ENST00000281523	T	0.43294	0.95	5.43	5.43	0.79202	.	0.061321	0.64402	D	0.000006	T	0.39911	0.1096	L	0.40543	1.245	0.36626	D	0.876032	B	0.21688	0.059	B	0.27608	0.081	T	0.36237	-0.9756	10	0.35671	T	0.21	0.0056	18.1988	0.89831	0.0:0.0:1.0:0.0	.	46	Q9H6B1	Z385D_HUMAN	E	46	ENSP00000281523:A46E	ENSP00000281523:A46E	A	-	2	0	ZNF385D	21681410	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	6.787000	0.75099	2.547000	0.85894	0.591000	0.81541	GCA		0.498	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		T	21706406	G	T	21706406	3	4	127	1	0	0	0	0	1	0	0	0	17883	1319	46	4	1078	4	ZNF385D	3	21706406	Missense_Mutation	SNP	G	TCGA-B0-4697-01A-01D-1361-10		21706406	176316024	7	7773											
MST1	63891	hgsc.bcm.edu	37	3	49725086	49725086	+	5'Flank	SNP	G	G	A	rs201833731	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr3:49725086G>A	ENST00000327697.6	+	0	0				MST1_ENST00000494828.2_5'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_Silent_p.N11N|MST1_ENST00000545762.1_Silent_p.N72N|MST1_ENST00000449682.2_Silent_p.N86N|RNF123_ENST00000432042.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCTGCTCACGTTGTAGTGGA	0.617																																																0													50	44	46					3																	49725086		2202	4300	6502	SO:0001631	upstream_gene_variant	4485			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725086G>A	Exception_encountered		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	CCDS33758.1																																																																																				0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		A	49725086	G	A	49725086	1	1	127	0	1	0	0	0	0	0	0	0	9892	1136	40	1		1	MST1	3	49725086	5'Flank	SNP	G	TCGA-B0-4697-01A-01D-1361-10	28018680	49725086	148297344	8	7774											
PRKCD	5580	hgsc.bcm.edu	37	3	53213676	53213676	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr3:53213676C>A	ENST00000394729.2	+	3	527	c.199C>A	c.(199-201)Cgc>Agc	p.R67S	PRKCD_ENST00000330452.3_Missense_Mutation_p.R67S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	67	C2.	Interaction with phosphotyrosine- containing peptide.			activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R67C(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CTATGAGGGGCGCGTCATCCA	0.582																																																1	Substitution - Missense(1)	central_nervous_system(1)											85	69	74					3																	53213676		2203	4300	6503	SO:0001583	missense	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.199C>A	3.37:g.53213676C>A	ENSP00000378217:p.Arg67Ser		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818381	0.71028	.	.	ENSG00000163932	ENST00000478843;ENST00000394729;ENST00000330452;ENST00000487897;ENST00000464818	T;T;D	0.83506	-0.44;-0.44;-1.73	4.97	4.97	0.65823	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91412	0.7290	M	0.85299	2.745	0.80722	D	1	D;P	0.76494	0.999;0.85	D;B	0.68483	0.958;0.394	D	0.91691	0.5366	10	0.48119	T	0.1	.	17.1648	0.86812	0.0:1.0:0.0:0.0	.	67;67	C9K0E3;Q05655	.;KPCD_HUMAN	S	67	ENSP00000378217:R67S;ENSP00000331602:R67S;ENSP00000419629:R67S	ENSP00000331602:R67S	R	+	1	0	PRKCD	53188716	1.000000	0.71417	0.996000	0.52242	0.027000	0.11550	5.810000	0.69179	2.578000	0.87016	0.655000	0.94253	CGC		0.582	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			A	53213676	C	A	53213676	3	1	127	1	0	0	0	0	1	0	0	0	12514	768	27	4	205	4	PRKCD	3	53213676	Missense_Mutation	SNP	C	TCGA-B0-4697-01A-01D-1361-10	3488590	53213676	144808754	9	7775											
SLC15A2	6565	hgsc.bcm.edu	37	3	121613338	121613338	+	Silent	SNP	G	G	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr3:121613338G>A	ENST00000489711.1	+	1	403	c.15G>A	c.(13-15)caG>caA	p.Q5Q	SLC15A2_ENST00000295605.2_Silent_p.Q5Q	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	5					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATCCTTTCCAGAAAAATGAGT	0.488																																																0													140	153	148					3																	121613338		2203	4300	6503	SO:0001819	synonymous_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.15G>A	3.37:g.121613338G>A			A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	CCDS3007.1																																																																																				0.488	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		A	121613338	G	A	121613338	2	1	127	1	0	0	0	0	0	0	0	1	14405	933	33	2		2	SLC15A2	3	121613338	Silent	SNP	G	TCGA-B0-4697-01A-01D-1361-10	68399662	121613338	76409092	10	7776											
SH3TC1	54436	hgsc.bcm.edu	37	4	8229881	8229881	+	Silent	SNP	A	A	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr4:8229881A>T	ENST00000245105.3	+	12	2527	c.2460A>T	c.(2458-2460)ggA>ggT	p.G820G	SH3TC1_ENST00000539824.1_Silent_p.G744G	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	820										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTATTGCCGGAGTCCGTGCCA	0.657																																					NSCLC(145;2298 2623 35616 37297)											0													48	43	44					4																	8229881		2203	4297	6500	SO:0001819	synonymous_variant	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2460A>T	4.37:g.8229881A>T			Q4W5G5	Silent	SNP	ENST00000245105.3	37	CCDS3399.1																																																																																				0.657	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		T	8229881	A	T	8229881	2	4	127	1	0	0	0	0	0	0	0	1	14267	291	11	5		5	SH3TC1	4	8229881	Silent	SNP	A	TCGA-B0-4697-01A-01D-1361-10		8229881	182924395	11	7777											
ANXA6	309	hgsc.bcm.edu	37	5	150514009	150514009	+	Silent	SNP	G	G	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr5:150514009G>A	ENST00000354546.5	-	8	752	c.525C>T	c.(523-525)gaC>gaT	p.D175D	ANXA6_ENST00000523714.1_Silent_p.D143D|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000356496.5_Silent_p.D175D	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	175					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGTACCAGGTCCTCGCTCA	0.567																																																0													183	186	185					5																	150514009		2002	4183	6185	SO:0001819	synonymous_variant	309			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.525C>T	5.37:g.150514009G>A			B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	ENST00000354546.5	37	CCDS47315.1																																																																																				0.567	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		A	150514009	G	A	150514009	2	1	127	1	0	0	0	0	0	0	0	1	722	1252	44	2		2	ANXA6	5	150514009	Silent	SNP	G	TCGA-B0-4697-01A-01D-1361-10		150514009	30401251	12	7778											
TSPAN17	26262	hgsc.bcm.edu	37	5	176084585	176084585	+	Silent	SNP	G	G	A	rs150851795	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr5:176084585G>A	ENST00000503045.1	+	9	871	c.816G>A	c.(814-816)acG>acA	p.T272T	TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000310032.8_Silent_p.T295T|TSPAN17_ENST00000508164.1_Silent_p.T292T			Q96FV3	TSN17_HUMAN	tetraspanin 17	0					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTGTCCACGGCGGGGCCTC	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		16338	0.0		0.002	False		,,,				2504	0.0															0								G	,,	5,4401	9.9+/-24.2	0,5,2198	26	29	28		,885,876	-7.1	0	5	dbSNP_134	28	5,8583	3.7+/-12.6	0,5,4289	no	utr-3,coding-synonymous,coding-synonymous	TSPAN17	NM_001006616.2,NM_012171.2,NM_130465.4	,,	0,10,6487	AA,AG,GG		0.0582,0.1135,0.077	,,	,295/333,292/330	176084585	10,12984	2203	4294	6497	SO:0001819	synonymous_variant	26262			AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"Tetraspanins"	13594	protein-coding gene	gene with protein product			"F-box only protein 23, transmembrane 4 superfamily member 17"	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.816G>A	5.37:g.176084585G>A			Q6NXF7|Q96S98|Q9UKB9	Silent	SNP	ENST00000503045.1	37																																																																																					0.557	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			A	176084585	G	A	176084585	2	1	127	1	0	0	0	0	0	0	0	1	16646	1103	39	1		1	TSPAN17	5	176084585	Silent	SNP	G	TCGA-B0-4697-01A-01D-1361-10	25570576	176084585	4830675	13	7779											
CUL9	23113	hgsc.bcm.edu	37	6	43174214	43174214	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr6:43174214T>G	ENST00000252050.4	+	26	5262	c.5178T>G	c.(5176-5178)gaT>gaG	p.D1726E	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000372647.2_Missense_Mutation_p.D1726E|CUL9_ENST00000354495.3_Missense_Mutation_p.D1616E	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1726					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AATTCTGTGATGCCCTTGACC	0.542																																																0													108	104	106					6																	43174214		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5178T>G	6.37:g.43174214T>G	ENSP00000252050:p.Asp1726Glu		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525324	0.64747	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73363	-0.74;-0.74;-0.74	5.36	1.49	0.22878	Cullin, N-terminal (1);Cullin homology (2);	0.417852	0.26753	N	0.022670	T	0.34308	0.0893	L	0.29908	0.895	0.27356	N	0.956093	P;B;B	0.34587	0.458;0.023;0.023	B;B;B	0.31869	0.137;0.012;0.012	T	0.26430	-1.0103	10	0.66056	D	0.02	-13.0105	0.9044	0.01281	0.1664:0.2359:0.3412:0.2566	.	1616;1726;1726	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	E	1726;1616;1726	ENSP00000252050:D1726E;ENSP00000346490:D1616E;ENSP00000361730:D1726E	ENSP00000252050:D1726E	D	+	3	2	CUL9	43282192	0.959000	0.32827	1.000000	0.80357	0.993000	0.82548	0.186000	0.16978	0.306000	0.22856	0.482000	0.46254	GAT		0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		G	43174214	T	G	43174214	3	3	127	1	0	0	0	0	1	0	0	0	4063	1461	51	5	5276	5	CUL9	6	43174214	Missense_Mutation	SNP	T	TCGA-B0-4697-01A-01D-1361-10		43174214	127940853	14	7780											
ELN	2006	hgsc.bcm.edu	37	7	73471995	73471995	+	Silent	SNP	T	T	C			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr7:73471995T>C	ENST00000252034.7	+	22	1782	c.1383T>C	c.(1381-1383)gcT>gcC	p.A461A	ELN_ENST00000429192.1_Intron|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Intron|ELN_ENST00000445912.1_Silent_p.A461A|ELN_ENST00000358929.4_Silent_p.A490A|ELN_ENST00000320399.6_Silent_p.A461A|ELN_ENST00000380553.4_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380562.4_Silent_p.A461A|ELN_ENST00000380576.5_Intron|ELN_ENST00000458204.1_Silent_p.A451A|ELN_ENST00000357036.5_Silent_p.A466A|ELN_ENST00000320492.7_Intron	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CAGCTGCAGCTGCTAAAGCAG	0.607			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																Dom	yes		7	7q11.23	2006	elastin	yes	L	0													34	39	37					7																	73471995		2202	4297	6499	SO:0001819	synonymous_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1383T>C	7.37:g.73471995T>C			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	CCDS5562.2																																																																																				0.607	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		C	73471995	T	C	73471995	2	2	127	1	0	0	0	0	0	0	0	1	5073	1567	55	3		3	ELN	7	73471995	Silent	SNP	T	TCGA-B0-4697-01A-01D-1361-10		73471995	85666668	15	7781											
GRM8	2918	hgsc.bcm.edu	37	7	126883113	126883113	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr7:126883113C>A	ENST00000339582.2	-	2	954	c.146G>T	c.(145-147)gGg>gTg	p.G49V	GRM8_ENST00000444921.2_Missense_Mutation_p.G49V|GRM8_ENST00000358373.3_Missense_Mutation_p.G49V|GRM8_ENST00000405249.1_Missense_Mutation_p.G49V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	49					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAAGAGACCCCCCAAAATAAT	0.527										HNSCC(24;0.065)																																						0													93	90	91					7																	126883113		2203	4300	6503	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.146G>T	7.37:g.126883113C>A	ENSP00000344173:p.Gly49Val		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380673	0.82792	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98183	1.0458	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	49;49	O00222-2;O00222	.;GRM8_HUMAN	V	49	ENSP00000344173:G49V;ENSP00000409790:G49V;ENSP00000351142:G49V;ENSP00000385731:G49V;ENSP00000415522:G49V	ENSP00000344173:G49V	G	-	2	0	GRM8	126670349	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGG		0.527	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			A	126883113	C	A	126883113	3	1	127	1	0	0	0	0	1	0	0	0	6805	623	22	4	2670	4	GRM8	7	126883113	Missense_Mutation	SNP	C	TCGA-B0-4697-01A-01D-1361-10	53411118	126883113	32255550	16	7782											
SH2D4A	63898	hgsc.bcm.edu	37	8	19252099	19252099	+	Silent	SNP	C	C	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr8:19252099C>T	ENST00000265807.3	+	10	1722	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L	SH2D4A_ENST00000518040.1_Silent_p.L392L|SH2D4A_ENST00000519207.1_Silent_p.L437L	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	437	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGCTCCTTCTCTATCCCTGTG	0.557																																																0													123	118	120					8																	19252099		2203	4300	6503	SO:0001819	synonymous_variant	63898			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1311C>T	8.37:g.19252099C>T			B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Silent	SNP	ENST00000265807.3	37	CCDS6009.1																																																																																				0.557	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		T	19252099	C	T	19252099	2	4	127	1	0	0	0	0	0	0	0	1	14241	900	32	2		2	SH2D4A	8	19252099	Silent	SNP	C	TCGA-B0-4697-01A-01D-1361-10		19252099	127111923	17	7783											
VCPIP1	80124	hgsc.bcm.edu	37	8	67576661	67576661	+	Silent	SNP	T	T	G			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr8:67576661T>G	ENST00000310421.4	-	1	2791	c.2533A>C	c.(2533-2535)Aga>Cga	p.R845R		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	845					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATTGTAATTCTGTCGCCATGC	0.428																																					NSCLC(179;265 2915 6144 43644)											0													103	105	105					8																	67576661		2203	4300	6503	SO:0001819	synonymous_variant	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2533A>C	8.37:g.67576661T>G			Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	CCDS6192.1																																																																																				0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			G	67576661	T	G	67576661	2	3	127	1	0	0	0	0	0	0	0	1	17146	1588	55	5		5	VCPIP1	8	67576661	Silent	SNP	T	TCGA-B0-4697-01A-01D-1361-10	48324562	67576661	78787361	18	7784											
PABPC1	26986	hgsc.bcm.edu	37	8	101725374	101725374	+	Missense_Mutation	SNP	T	T	C	rs72681440	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr8:101725374T>C	ENST00000318607.5	-	5	1807	c.679A>G	c.(679-681)Agt>Ggt	p.S227G	PABPC1_ENST00000522387.1_Missense_Mutation_p.S195G|PABPC1_ENST00000519004.1_Missense_Mutation_p.S182G|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	227	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GATTTTCCACTTTCATCAGTC	0.343																																																0													53	50	51					8																	101725374		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.679A>G	8.37:g.101725374T>C	ENSP00000313007:p.Ser227Gly		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.49|14.49	2.552401|2.552401	0.45487|0.45487	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519596;ENST00000523555|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|D;D;T	.|0.88896	.|-2.44;-2.44;2.38	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.166789	.|0.41001	.|U	.|0.000964	D|D	0.84270|0.84270	0.5435|0.5435	L|L	0.33668|0.33668	1.02|1.02	0.29103|0.29103	N|N	0.881367|0.881367	.|B;B;B	.|0.16396	.|0.001;0.017;0.017	.|B;B;B	.|0.23150	.|0.008;0.044;0.04	T|T	0.78976|0.78976	-0.1991|-0.1991	5|10	.|0.51188	.|T	.|0.08	.|.	14.9391|14.9391	0.70980|0.70980	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|195;227;227	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	R|G	59;173|227;227;182;195	.|ENSP00000313007:S227G;ENSP00000429594:S182G;ENSP00000429395:S195G	.|ENSP00000313007:S227G	K|S	-|-	2|1	0|0	PABPC1|PABPC1	101794550|101794550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.709000|2.709000	0.47160|0.47160	1.992000|1.992000	0.58205|0.58205	0.383000|0.383000	0.25322|0.25322	AAG|AGT		0.343	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		C	101725374	T	C	101725374	3	2	127	1	0	0	0	0	1	0	0	0	11365	1609	56	3	1271	3	PABPC1	8	101725374	Missense_Mutation	SNP	T	TCGA-B0-4697-01A-01D-1361-10	34148713	101725374	44638648	19	7785											
BTRC	8945	hgsc.bcm.edu;ucsc.edu	37	10	103294568	103294568	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr10:103294568T>G	ENST00000370187.3	+	10	1366	c.1248T>G	c.(1246-1248)atT>atG	p.I416M	BTRC_ENST00000408038.2_Missense_Mutation_p.I380M|BTRC_ENST00000393441.4_Missense_Mutation_p.I375M	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	416					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I416M(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CAACTGACATTACCCTCCGGA	0.483																																																1	Substitution - Missense(1)	large_intestine(1)											254	218	230					10																	103294568		2203	4300	6503	SO:0001583	missense	8945			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1248T>G	10.37:g.103294568T>G	ENSP00000359206:p.Ile416Met		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089199	0.76756	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.61510	1.15;1.15;0.1	5.69	-7.31	0.01441	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.46678	0.1405	N	0.04880	-0.145	0.58432	D	0.999995	P;P;D	0.69078	0.577;0.699;0.997	P;P;D	0.76071	0.553;0.554;0.987	T	0.63924	-0.6527	10	0.51188	T	0.08	-12.033	11.9141	0.52755	0.0786:0.7796:0.0:0.1418	.	390;380;416	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	M	416;375;380	ENSP00000359206:I416M;ENSP00000377088:I375M;ENSP00000385339:I380M	ENSP00000359206:I416M	I	+	3	3	BTRC	103284558	0.003000	0.15002	0.758000	0.31321	0.991000	0.79684	-1.137000	0.03219	-1.481000	0.01863	-0.250000	0.11733	ATT		0.483	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		G	103294568	T	G	103294568	3	3	127	1	0	0	0	0	1	0	0	0	1571	1742	61	5	1286	5	BTRC	10	103294568	Missense_Mutation	SNP	T	TCGA-B0-4697-01A-01D-1361-10		103294568	32240179	20	7786											
KRTAP5-1	387264	hgsc.bcm.edu	37	11	1606138	1606138	+	Silent	SNP	T	T	G	rs80025267	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr11:1606138T>G	ENST00000382171.2	-	1	375	c.342A>C	c.(340-342)ggA>ggC	p.G114G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	114	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACCCTTGGATCCCCCACAAG	0.652																																																0								C		591,3533		103,385,1574	32	45	41		342	-3.3	0	11	dbSNP_131	41	1037,7043		259,519,3262	no	coding-synonymous	KRTAP5-1	NM_001005922.1		362,904,4836	GG,GT,TT		12.8342,14.3307,13.3399		114/279	1606138	1628,10576	2062	4040	6102	SO:0001819	synonymous_variant	387264			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.342A>C	11.37:g.1606138T>G				Silent	SNP	ENST00000382171.2	37	CCDS31330.1																																																																																				0.652	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		G	1606138	T	G	1606138	2	3	127	1	0	0	0	0	0	0	0	1	8560	1422	50	5		5	KRTAP5-1	11	1606138	Silent	SNP	T	TCGA-B0-4697-01A-01D-1361-10		1606138	133400378	21	7787											
DNHD1	144132	hgsc.bcm.edu	37	11	6578588	6578588	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr11:6578588A>C	ENST00000527990.2	+	23	8063	c.8063A>C	c.(8062-8064)cAc>cCc	p.H2688P	DNHD1_ENST00000254579.6_Missense_Mutation_p.H2688P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2688					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGGCCCCAGCACCTGGGCAAG	0.607																																																0													30	36	34					11																	6578588		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.8063A>C	11.37:g.6578588A>C	ENSP00000436180:p.His2688Pro		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	0.970	-0.700373	0.03279	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.26373	1.74;1.74	5.33	-2.0	0.07433	.	.	.	.	.	T	0.09818	0.0241	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.25984	-1.0116	9	0.36615	T	0.2	.	1.9095	0.03284	0.4664:0.2338:0.0808:0.219	.	2688;435	Q96M86;E9PHZ7	DNHD1_HUMAN;.	P	2688;2688;435	ENSP00000254579:H2688P;ENSP00000436180:H2688P	ENSP00000254579:H2688P	H	+	2	0	DNHD1	6535164	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.347000	0.07750	-0.491000	0.06697	0.529000	0.55759	CAC		0.607	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6578588	A	C	6578588	3	2	127	1	0	0	0	0	1	0	0	0	4670	159	6	5	8162	5	DNHD1	11	6578588	Missense_Mutation	SNP	A	TCGA-B0-4697-01A-01D-1361-10	4972450	6578588	128427928	22	7788											
PITPNM1	9600	hgsc.bcm.edu	37	11	67269466	67269466	+	Silent	SNP	T	T	C			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr11:67269466T>C	ENST00000534749.1	-	4	695	c.507A>G	c.(505-507)cgA>cgG	p.R169R	PITPNM1_ENST00000436757.2_Silent_p.R169R|PITPNM1_ENST00000356404.3_Silent_p.R169R			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	169					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)	p.R169R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACAGTGGCCCTCGGCCCGTCT	0.617																																					GBM(28;144 709 4607 5525)											1	Substitution - coding silent(1)	lung(1)											56	52	53					11																	67269466		2200	4294	6494	SO:0001819	synonymous_variant	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.507A>G	11.37:g.67269466T>C			A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	CCDS31620.1																																																																																				0.617	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		C	67269466	T	C	67269466	2	2	127	1	0	0	0	0	0	0	0	1	11952	1538	54	3		3	PITPNM1	11	67269466	Silent	SNP	T	TCGA-B0-4697-01A-01D-1361-10	60690878	67269466	67737050	23	7789											
ACAD8	27034	hgsc.bcm.edu	37	11	134131683	134131683	+	Silent	SNP	C	C	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr11:134131683C>T	ENST00000281182.4	+	9	1097	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000537423.1_Silent_p.L254L|ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000374752.4_Silent_p.L204L	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	331					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	GGCCGCGCGGCTGATGGTCCG	0.562																																					GBM(65;238 1125 33403 41853 48889)											0													106	87	93					11																	134131683		2201	4297	6498	SO:0001819	synonymous_variant	27034			AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"acyl-Coenzyme A dehydrogenase family, member 8"			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.991C>T	11.37:g.134131683C>T			B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	37	CCDS8498.1																																																																																				0.562	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		T	134131683	C	T	134131683	2	4	127	1	0	0	0	0	0	0	0	1	110	796	28	2		2	ACAD8	11	134131683	Silent	SNP	C	TCGA-B0-4697-01A-01D-1361-10	66862217	134131683	874833	24	7790											
GXYLT1	283464	hgsc.bcm.edu	37	12	42491287	42491287	+	Missense_Mutation	SNP	T	T	C	rs201958690		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr12:42491287T>C	ENST00000398675.3	-	7	1350	c.1118A>G	c.(1117-1119)gAt>gGt	p.D373G	GXYLT1_ENST00000280876.6_Missense_Mutation_p.D342G	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	373					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TGGTTGCTTATCGTCATGGTA	0.343																																																0																																										SO:0001583	missense	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1118A>G	12.37:g.42491287T>C	ENSP00000381666:p.Asp373Gly		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185609	0.57909	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.23147	1.92;1.92	5.84	5.84	0.93424	.	0.104418	0.64402	D	0.000001	T	0.35189	0.0923	M	0.78637	2.42	0.53688	D	0.999973	B;B	0.31383	0.321;0.215	B;B	0.38755	0.281;0.146	T	0.16364	-1.0405	10	0.37606	T	0.19	-34.0815	10.5348	0.44998	0.0:0.0719:0.0:0.9281	.	342;373	Q4G148-2;Q4G148	.;GXLT1_HUMAN	G	373;342	ENSP00000381666:D373G;ENSP00000280876:D342G	ENSP00000280876:D342G	D	-	2	0	GXYLT1	40777554	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	6.220000	0.72237	2.226000	0.72624	0.482000	0.46254	GAT		0.343	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		C	42491287	T	C	42491287	3	2	127	1	0	0	0	0	1	0	0	0	6905	1435	50	3	212	3	GXYLT1	12	42491287	Missense_Mutation	SNP	T	TCGA-B0-4697-01A-01D-1361-10		42491287	91360608	25	7791											
USP15	9958	hgsc.bcm.edu	37	12	62777762	62777762	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr12:62777762G>T	ENST00000280377.5	+	10	1289	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	USP15_ENST00000353364.3_Missense_Mutation_p.D382Y|USP15_ENST00000393654.3_Missense_Mutation_p.D386Y	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	411	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAAAGATGCAGATGGAAGGCC	0.333																																					Melanoma(181;615 2041 39364 49691 50001)											0													80	82	81					12																	62777762		2203	4299	6502	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1231G>T	12.37:g.62777762G>T	ENSP00000280377:p.Asp411Tyr		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371868	0.42003	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.30182	4.13;4.13;1.54	5.4	5.4	0.78164	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053826	0.64402	D	0.000001	T	0.37517	0.1006	M	0.69523	2.12	0.80722	D	1	B;B	0.19583	0.037;0.037	B;B	0.21360	0.034;0.022	T	0.13737	-1.0498	9	.	.	.	-21.1592	19.3716	0.94490	0.0:0.0:1.0:0.0	.	411;382	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	Y	382;411;386	ENSP00000258123:D382Y;ENSP00000280377:D411Y;ENSP00000377264:D386Y	.	D	+	1	0	USP15	61064029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.583000	0.82559	2.805000	0.96524	0.655000	0.94253	GAT		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		T	62777762	G	T	62777762	3	4	127	1	0	0	0	0	1	0	0	0	17051	942	33	4	1178	4	USP15	12	62777762	Missense_Mutation	SNP	G	TCGA-B0-4697-01A-01D-1361-10	20286475	62777762	71074133	26	7792											
ZFYVE26	23503	hgsc.bcm.edu	37	14	68251809	68251809	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr14:68251809C>G	ENST00000347230.4	-	19	3628	c.3490G>C	c.(3490-3492)Gca>Cca	p.A1164P	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1164P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1164			A -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGAGAACTGCAGCAAGGGTG	0.517																																																0													159	167	164					14																	68251809		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3490G>C	14.37:g.68251809C>G	ENSP00000251119:p.Ala1164Pro		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687410	0.68157	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29397	1.71;1.57	5.54	1.21	0.21127	.	0.563103	0.19635	N	0.109597	T	0.32102	0.0818	L	0.54323	1.7	0.21290	N	0.999735	D;P	0.57571	0.98;0.877	P;B	0.50754	0.649;0.368	T	0.10405	-1.0631	10	0.44086	T	0.13	-0.4997	5.6463	0.17592	0.1643:0.5817:0.0:0.2539	.	1164;1164	G3V2D8;Q68DK2	.;ZFY26_HUMAN	P	1164;1143;1164	ENSP00000251119:A1164P;ENSP00000450603:A1164P	ENSP00000251119:A1164P	A	-	1	0	ZFYVE26	67321562	0.024000	0.19004	0.246000	0.24233	0.992000	0.81027	0.194000	0.17135	0.287000	0.22375	0.655000	0.94253	GCA		0.517	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		G	68251809	C	G	68251809	3	3	127	1	0	0	0	0	1	0	0	0	17673	710	25	4	4225	4	ZFYVE26	14	68251809	Missense_Mutation	SNP	C	TCGA-B0-4697-01A-01D-1361-10		68251809	39097731	27	7793											
CCDC33	80125	hgsc.bcm.edu;ucsc.edu	37	15	74625025	74625025	+	Missense_Mutation	SNP	C	C	T	rs146131430		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr15:74625025C>T	ENST00000398814.3	+	16	2208	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	CCDC33_ENST00000321288.5_Missense_Mutation_p.P796S|CCDC33_ENST00000268082.4_Missense_Mutation_p.P186S|CCDC33_ENST00000558821.1_Missense_Mutation_p.P186S	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	796								p.P593S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTAGGCTTCCCTATGCTCTC	0.562																																																1	Substitution - Missense(1)	skin(1)											121	132	128					15																	74625025		2063	4208	6271	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1777C>T	15.37:g.74625025C>T	ENSP00000381795:p.Pro593Ser		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	5.038	0.192696	0.09599	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.34072	1.38;2.33;2.0;1.99	4.54	3.59	0.41128	.	0.899780	0.09462	N	0.798860	T	0.46386	0.1390	L	0.31294	0.92	0.09310	N	1	B;B;B;D	0.67145	0.046;0.041;0.15;0.996	B;B;B;D	0.64776	0.033;0.019;0.027;0.929	T	0.38499	-0.9658	10	0.44086	T	0.13	.	12.3487	0.55136	0.0:0.8286:0.1714:0.0	.	186;186;796;593	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	S	796;593;186;186	ENSP00000325012:P796S;ENSP00000381795:P593S;ENSP00000325661:P186S;ENSP00000268082:P186S	ENSP00000268082:P186S	P	+	1	0	CCDC33	72412078	0.429000	0.25530	0.045000	0.18777	0.006000	0.05464	1.877000	0.39598	1.180000	0.42898	0.549000	0.68633	CCT		0.562	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		T	74625025	C	T	74625025	3	4	127	1	0	0	0	0	1	0	0	0	2808	623	22	2	1912	2	CCDC33	15	74625025	Missense_Mutation	SNP	C	TCGA-B0-4697-01A-01D-1361-10		74625025	27906367	28	7794											
SIAH1	6477	hgsc.bcm.edu	37	16	48396058	48396058	+	Silent	SNP	T	T	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr16:48396058T>A	ENST00000380006.2	-	1	1735	c.282A>T	c.(280-282)gtA>gtT	p.V94V	SIAH1_ENST00000356721.3_Silent_p.V125V|SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Silent_p.V94V			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	94	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				AGGGGAAAAGTACTGAATTAG	0.463																																																0													78	70	72					16																	48396058		2200	4300	6500	SO:0001819	synonymous_variant	6477			U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"seven in absentia homolog 1 (Drosophila)"			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.282A>T	16.37:g.48396058T>A			A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	ENST00000380006.2	37	CCDS10735.1																																																																																				0.463	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			A	48396058	T	A	48396058	2	1	127	1	0	0	0	0	0	0	0	1	14305	1625	57	5		5	SIAH1	16	48396058	Silent	SNP	T	TCGA-B0-4697-01A-01D-1361-10		48396058	41958695	29	7795											
TOM1L2	146691	hgsc.bcm.edu	37	17	17772713	17772713	+	Silent	SNP	G	G	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr17:17772713G>A	ENST00000379504.3	-	8	935	c.852C>T	c.(850-852)gtC>gtT	p.V284V	TOM1L2_ENST00000535933.1_Silent_p.V231V|TOM1L2_ENST00000318094.10_Silent_p.V239V|TOM1L2_ENST00000540946.1_Silent_p.V186V|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000581396.1_Silent_p.V234V|TOM1L2_ENST00000542206.1_Silent_p.V136V|TOM1L2_ENST00000395739.4_Silent_p.V239V|TOM1L2_ENST00000478943.1_Silent_p.V17V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	284	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GCTCCTCGGTGACCTCCTCAT	0.527																																					Melanoma(192;2505 2909 14455 25269)											0													80	74	76					17																	17772713		2203	4300	6503	SO:0001819	synonymous_variant	146691			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.852C>T	17.37:g.17772713G>A			B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	37	CCDS42270.1																																																																																				0.527	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			A	17772713	G	A	17772713	2	1	127	1	0	0	0	0	0	0	0	1	16358	1277	45	2		2	TOM1L2	17	17772713	Silent	SNP	G	TCGA-B0-4697-01A-01D-1361-10		17772713	63422497	30	7796											
DHX40	79665	hgsc.bcm.edu	37	17	57676168	57676168	+	Silent	SNP	T	T	C	rs139117700	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr17:57676168T>C	ENST00000251241.4	+	13	1800	c.1653T>C	c.(1651-1653)aaT>aaC	p.N551N	DHX40_ENST00000451169.2_Silent_p.N503N|DHX40_ENST00000425628.3_Silent_p.N474N	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	551							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGGATTTAATGACTTTGCAA	0.373													T|||	66	0.0131789	0.0008	0.0187	5008	,	,		19727	0.001		0.0368	False		,,,				2504	0.0143															0													4	6	5					17																	57676168		2031	3943	5974	SO:0001819	synonymous_variant	79665			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"DEAH-boxes"	18018	protein-coding gene	gene with protein product		607570	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1653T>C	17.37:g.57676168T>C			B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Silent	SNP	ENST00000251241.4	37	CCDS11617.1																																																																																				0.373	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		C	57676168	T	C	57676168	2	2	127	1	0	0	0	0	0	0	0	1	4514	1461	51	3		3	DHX40	17	57676168	Silent	SNP	T	TCGA-B0-4697-01A-01D-1361-10	39903455	57676168	23519042	31	7797											
CHMP1B	57132	hgsc.bcm.edu	37	18	11851896	11851896	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr18:11851896C>T	ENST00000526991.2	+	1	502	c.386C>T	c.(385-387)aCg>aTg	p.T129M	GNAL_ENST00000423027.3_Intron|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000334049.6_Intron|RP11-78A19.3_ENST00000586474.1_RNA	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	129					cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						GACGTCCAGACGCAGCAAATG	0.517																																																0													76	83	81					18																	11851896		2105	4237	6342	SO:0001583	missense	57132			AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"Charged multivesicular body proteins"	24287	protein-coding gene	gene with protein product		606486	"chromatin modifying protein 1B"			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.386C>T	18.37:g.11851896C>T	ENSP00000432279:p.Thr129Met		Q96E89|Q9HD41	Missense_Mutation	SNP	ENST00000526991.2	37	CCDS54180.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402624	0.83230	.	.	ENSG00000255112	ENST00000526991	T	0.72282	-0.64	5.59	4.73	0.59995	.	.	.	.	.	D	0.84110	0.5400	M	0.86502	2.82	0.58432	D	0.999999	D	0.71674	0.998	D	0.65140	0.932	D	0.86921	0.2067	9	0.87932	D	0	.	12.7759	0.57448	0.0:0.92:0.0:0.08	.	129	Q7LBR1	CHM1B_HUMAN	M	129	ENSP00000432279:T129M	ENSP00000432279:T129M	T	+	2	0	CHMP1B	11841896	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.750000	0.68712	1.508000	0.48769	0.655000	0.94253	ACG		0.517	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2	NM_020412		T	11851896	C	T	11851896	3	4	127	1	0	0	0	0	1	0	0	0	3355	536	19	1	388	1	CHMP1B	18	11851896	Missense_Mutation	SNP	C	TCGA-B0-4697-01A-01D-1361-10		11851896	66225352	32	7798											
MOCOS	55034	hgsc.bcm.edu	37	18	33848526	33848526	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr18:33848526T>C	ENST00000261326.5	+	15	2566	c.2545T>C	c.(2545-2547)Tca>Cca	p.S849P		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATGCATGCATCATTGGATTT	0.383																																																0													283	243	257					18																	33848526		2203	4300	6503	SO:0001583	missense	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2545T>C	18.37:g.33848526T>C	ENSP00000261326:p.Ser849Pro			Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	T	1.929	-0.446442	0.04604	.	.	ENSG00000075643	ENST00000261326	T	0.36157	1.27	5.74	1.99	0.26369	Molybdenum cofactor sulfurase, C-terminal (2);	0.621040	0.18182	N	0.149116	T	0.20007	0.0481	N	0.20401	0.57	0.09310	N	1	B	0.15930	0.015	B	0.18561	0.022	T	0.17440	-1.0369	10	0.26408	T	0.33	-8.2516	6.5426	0.22388	0.0:0.0818:0.3211:0.5972	.	849	Q96EN8	MOCOS_HUMAN	P	849	ENSP00000261326:S849P	ENSP00000261326:S849P	S	+	1	0	MOCOS	32102524	0.000000	0.05858	0.025000	0.17156	0.002000	0.02628	-0.138000	0.10374	0.517000	0.28361	0.529000	0.55759	TCA		0.383	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			C	33848526	T	C	33848526	3	2	127	1	0	0	0	0	1	0	0	0	9691	1435	50	3	2603	3	MOCOS	18	33848526	Missense_Mutation	SNP	T	TCGA-B0-4697-01A-01D-1361-10	21996630	33848526	44228722	33	7799											
STK11	6794	hgsc.bcm.edu	37	19	1220429	1220429	+	Silent	SNP	C	C	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr19:1220429C>T	ENST00000326873.7	+	4	1695	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		H -> R (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.H174H(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATTGTGCACAAGGACATCA	0.652		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	29	Whole gene deletion(20)|Unknown(4)|Deletion - Frameshift(4)|Substitution - coding silent(1)	cervix(15)|lung(9)|kidney(2)|oesophagus(1)|ovary(1)|pancreas(1)											44	52	49					19																	1220429		2102	4244	6346	SO:0001819	synonymous_variant	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.522C>T	19.37:g.1220429C>T			B2RBX7|E7EW76	Silent	SNP	ENST00000326873.7	37	CCDS45896.1																																																																																				0.652	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		T	1220429	C	T	1220429	2	4	127	1	0	0	0	0	0	0	0	1	15292	477	17	2		2	STK11	19	1220429	Silent	SNP	C	TCGA-B0-4697-01A-01D-1361-10		1220429	57908554	34	7800											
ANKRD24	170961	hgsc.bcm.edu	37	19	4200138	4200138	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr19:4200138G>A	ENST00000600132.1	+	5	589	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	ANKRD24_ENST00000318934.4_Missense_Mutation_p.G105S|ANKRD24_ENST00000262970.5_Missense_Mutation_p.G195S	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	105										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GATAGCTCATGGCAGCAATGT	0.662																																																0													27	29	28					19																	4200138		1972	4144	6116	SO:0001583	missense	170961			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.313G>A	19.37:g.4200138G>A	ENSP00000471252:p.Gly105Ser		O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381676	0.61845	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	D;D	0.81659	-1.52;-1.52	4.17	4.17	0.49024	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.89104	0.6620	M	0.81682	2.555	0.49130	D	0.999759	D;D	0.89917	1.0;0.976	D;D	0.97110	1.0;0.942	D	0.90506	0.4477	9	0.72032	D	0.01	-18.8232	13.1832	0.59666	0.0:0.0:1.0:0.0	.	105;195	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	S	105;195	ENSP00000321731:G105S;ENSP00000262970:G195S	ENSP00000262970:G195S	G	+	1	0	ANKRD24	4151138	1.000000	0.71417	0.032000	0.17829	0.272000	0.26649	8.004000	0.88535	1.854000	0.53819	0.313000	0.20887	GGC		0.662	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		A	4200138	G	A	4200138	3	1	127	1	0	0	0	0	1	0	0	0	653	1348	47	2	327	2	ANKRD24	19	4200138	Missense_Mutation	SNP	G	TCGA-B0-4697-01A-01D-1361-10	2979709	4200138	54928845	35	7801											
KLK10	5655	hgsc.bcm.edu	37	19	51519365	51519365	+	Missense_Mutation	SNP	C	C	A	rs577311064		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr19:51519365C>A	ENST00000309958.3	-	4	535	c.317G>T	c.(316-318)gGa>gTa	p.G106V	KLK10_ENST00000358789.3_Missense_Mutation_p.G106V|KLK10_ENST00000391805.1_Missense_Mutation_p.G106V|CTC-518B2.12_ENST00000596286.1_RNA	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G106V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GAGCTGCTCTCCCTGAAGAAG	0.602																																																1	Substitution - Missense(1)	ovary(1)											42	35	37					19																	51519365		2200	4295	6495	SO:0001583	missense	5655			AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"Kallikreins"	6358	protein-coding gene	gene with protein product		602673	"kallikrein 10"	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.317G>T	19.37:g.51519365C>A	ENSP00000311746:p.Gly106Val		A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	CCDS12817.1	.	.	.	.	.	.	.	.	.	.	c	18.24	3.579954	0.65992	.	.	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.90504	-2.68;-2.68;-2.68	4.67	3.6	0.41247	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.685753	0.11990	N	0.509955	D	0.89529	0.6741	L	0.50993	1.605	0.37346	D	0.91058	P	0.38078	0.617	B	0.44133	0.442	D	0.88603	0.3151	10	0.87932	D	0	.	9.529	0.39182	0.0:0.8977:0.0:0.1023	.	106	O43240	KLK10_HUMAN	V	106	ENSP00000375681:G106V;ENSP00000311746:G106V;ENSP00000351640:G106V	ENSP00000311746:G106V	G	-	2	0	KLK10	56211177	0.006000	0.16342	0.752000	0.31206	0.988000	0.76386	0.528000	0.23002	1.046000	0.40249	0.655000	0.94253	GGA		0.602	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776		A	51519365	C	A	51519365	3	1	127	1	0	0	0	0	1	0	0	0	8400	855	30	4	525	4	KLK10	19	51519365	Missense_Mutation	SNP	C	TCGA-B0-4697-01A-01D-1361-10	47319227	51519365	7609618	36	7802											
ZNF578	147660	hgsc.bcm.edu	37	19	53014787	53014787	+	Missense_Mutation	SNP	A	A	G	rs35356792	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr19:53014787A>G	ENST00000421239.2	+	6	1397	c.1153A>G	c.(1153-1155)Acc>Gcc	p.T385A	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCAAAATTCAACCCTTGTAAT	0.378													a|||	301	0.0601038	0.1362	0.0591	5008	,	,		25349	0.001		0.0636	False		,,,				2504	0.0153															0								A	ALA/THR	508,3898		38,432,1733	96	101	99		1153	-3	0	19	dbSNP_126	99	570,8028		14,542,3743	no	missense	ZNF578	NM_001099694.1	58	52,974,5476	GG,GA,AA		6.6294,11.5297,8.2898	possibly-damaging	385/591	53014787	1078,11926	2203	4299	6502	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1153A>G	19.37:g.53014787A>G	ENSP00000459216:p.Thr385Ala		B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	CCDS54310.1	130	0.05952380952380952	67	0.13617886178861788	18	0.049723756906077346	1	0.0017482517482517483	44	0.05804749340369393	-	0.314	-0.965816	0.02249	0.115297	0.066294	ENSG00000258405	ENST00000553364	.	.	.	1.48	-2.97	0.05530	.	.	.	.	.	T	0.00073	0.0002	N	0.02685	-0.53	0.80722	P	0.0	B	0.06786	0.001	B	0.09377	0.004	T	0.23013	-1.0200	6	.	.	.	.	0.5818	0.00713	0.4441:0.1578:0.131:0.2671	rs35356792;rs61746281	385	G3V4F6	.	A	385	.	.	T	+	1	0	ZNF578	57706599	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-13.157000	0.00001	-1.870000	0.01139	0.246000	0.17985	ACC		0.378	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		G	53014787	A	G	53014787	3	3	127	1	0	0	0	0	1	0	0	0	18015	43	2	3	1163	3	ZNF578	19	53014787	Missense_Mutation	SNP	A	TCGA-B0-4697-01A-01D-1361-10	1495422	53014787	6114196	37	7803											
DDX27	55661	hgsc.bcm.edu;ucsc.edu	37	20	47835943	47835943	+	Silent	SNP	A	A	G	rs139847823	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr20:47835943A>G	ENST00000371764.4	+	1	60	c.51A>G	c.(49-51)ggA>ggG	p.G17G	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	17						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAAGGGCCGGACCGCAGGCTG	0.612																																																0													77	65	69					20																	47835943		2203	4300	6503	SO:0001819	synonymous_variant	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.51A>G	20.37:g.47835943A>G			A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	CCDS13416.1																																																																																				0.612	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			G	47835943	A	G	47835943	2	3	127	1	0	0	0	0	0	0	0	1	4356	262	10	3		3	DDX27	20	47835943	Silent	SNP	A	TCGA-B0-4697-01A-01D-1361-10		47835943	15189577	38	7804											
TFF2	7032	hgsc.bcm.edu	37	21	43771056	43771056	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr21:43771056C>A	ENST00000291526.4	-	1	181	c.11G>T	c.(10-12)cGa>cTa	p.R4L	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	4				MGRRDAQLLAALLVLGLCA -> RHGTARRPAPGSAPRPGA MC (in Ref. 1). {ECO:0000305}.	calcium-mediated signaling (GO:0019722)|chemokine-mediated signaling pathway (GO:0070098)|digestion (GO:0007586)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of inflammatory response (GO:0050728)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						CTGGGCGTCTCGCCGTCCCAT	0.572																																																0													47	47	47					21																	43771056		2203	4300	6503	SO:0001583	missense	7032				CCDS13684.1	21q22.3	2008-07-28	2008-07-28		ENSG00000160181	ENSG00000160181			11756	protein-coding gene	gene with protein product		182590	"spasmolytic protein 1"	SML1		1505966, 9043862	Standard	NM_005423		Approved		uc002zaw.3	Q03403	OTTHUMG00000086797	ENST00000291526.4:c.11G>T	21.37:g.43771056C>A	ENSP00000291526:p.Arg4Leu		Q15854	Missense_Mutation	SNP	ENST00000291526.4	37	CCDS13684.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720249	0.30503	.	.	ENSG00000160181	ENST00000291526	T	0.32753	1.44	4.02	-1.5	0.08691	.	0.696409	0.12487	N	0.464562	T	0.29126	0.0724	M	0.80746	2.51	0.09310	N	1	P	0.38827	0.649	B	0.37144	0.242	T	0.19321	-1.0309	9	.	.	.	-64.045	3.9917	0.09539	0.0:0.3261:0.348:0.3258	.	4	Q03403	TFF2_HUMAN	L	4	ENSP00000291526:R4L	.	R	-	2	0	TFF2	42644125	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-0.443000	0.06862	0.034000	0.15491	0.462000	0.41574	CGA		0.572	TFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195355.1	NM_005423		A	43771056	C	A	43771056	3	1	127	1	0	0	0	0	1	0	0	0	15809	884	31	4	394	4	TFF2	21	43771056	Missense_Mutation	SNP	C	TCGA-B0-4697-01A-01D-1361-10		43771056	4358839	39	7805											
TAB1	10454	hgsc.bcm.edu	37	22	39826038	39826038	+	Silent	SNP	C	C	A	rs568782512		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr22:39826038C>A	ENST00000216160.6	+	11	1388	c.1326C>A	c.(1324-1326)acC>acA	p.T442T	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	442					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CGACCTTAACCCTGCAGTCCA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		17620	0.0		0.0	False		,,,				2504	0.001															0													70	69	69					22																	39826038		2203	4300	6503	SO:0001819	synonymous_variant	10454			U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"TAK1-binding protein 1", "mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	602615	"mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1326C>A	22.37:g.39826038C>A			Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	37	CCDS13993.1																																																																																				0.672	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		A	39826038	C	A	39826038	2	1	127	1	0	0	0	0	0	0	0	1	15500	610	22	4		4	TAB1	22	39826038	Silent	SNP	C	TCGA-B0-4697-01A-01D-1361-10		39826038	11478528	40	7806											
ARAF	369	hgsc.bcm.edu	37	X	47428171	47428171	+	Silent	SNP	A	A	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chrX:47428171A>T	ENST00000377045.4	+	11	1325	c.1131A>T	c.(1129-1131)ggA>ggT	p.G377G	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCCGGCCGGGATTTGCCATCA	0.577											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													63	43	50					X																	47428171		2203	4299	6502	SO:0001819	synonymous_variant	369			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1131A>T	X.37:g.47428171A>T		946	P07557|Q5H9B2|Q5H9B3	Silent	SNP	ENST00000377045.4	37	CCDS35232.1																																																																																				0.577	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			T	47428171	A	T	47428171	2	4	127	1	0	0	0	0	0	0	0	1	837	320	12	5		5	ARAF	23	47428171	Silent	SNP	A	TCGA-B0-4697-01A-01D-1361-10		47428171	107842389	41	7807											
CFP	5199	hgsc.bcm.edu	37	X	47489070	47489070	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chrX:47489070G>A	ENST00000396992.3	-	2	200	c.80C>T	c.(79-81)tCa>tTa	p.S27L	CFP_ENST00000247153.3_Missense_Mutation_p.S27L|CFP_ENST00000377005.2_Missense_Mutation_p.S27L|CFP_ENST00000480317.1_5'UTR	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	27					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.S27*(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CACGGGGTCTGAGCCTGTAAC	0.652																																																1	Substitution - Nonsense(1)	breast(1)											17	14	15					X																	47489070		2126	4176	6302	SO:0001583	missense	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.80C>T	X.37:g.47489070G>A	ENSP00000380189:p.Ser27Leu		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177216	0.38413	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.45668	0.89;0.89;0.89	5.51	2.3	0.28687	.	0.957816	0.08690	N	0.908126	T	0.40979	0.1139	M	0.79475	2.455	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.48127	-0.9062	10	0.72032	D	0.01	.	2.1399	0.03772	0.1071:0.1627:0.454:0.2762	.	27	P27918	PROP_HUMAN	L	27	ENSP00000380189:S27L;ENSP00000247153:S27L;ENSP00000366204:S27L	ENSP00000247153:S27L	S	-	2	0	CFP	47374014	0.018000	0.18449	0.903000	0.35520	0.523000	0.34469	1.416000	0.34759	1.079000	0.41038	0.600000	0.82982	TCA		0.652	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		A	47489070	G	A	47489070	3	1	127	1	0	0	0	0	1	0	0	0	3295	1294	45	2	1361	2	CFP	23	47489070	Missense_Mutation	SNP	G	TCGA-B0-4697-01A-01D-1361-10	60899	47489070	107781490	42	7808											
AHDC1	27245	broad.mit.edu	37	1	27874970	27874970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr1:27874970C>T	ENST00000247087.5	-	5	4253	c.3657G>A	c.(3655-3657)tgG>tgA	p.W1219*	AHDC1_ENST00000374011.2_Nonsense_Mutation_p.W1219*			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1219							DNA binding (GO:0003677)	p.W1219*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CACTCTGGTTCCAGTTGTAGC	0.602																																																1	Substitution - Nonsense(1)	kidney(1)											50	51	51					1																	27874970		2203	4300	6503	SO:0001587	stop_gained	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3657G>A	1.37:g.27874970C>T	ENSP00000247087:p.Trp1219*		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Nonsense_Mutation	SNP	ENST00000247087.5	37	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	46	12.568167	0.99679	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	.	.	.	5.34	5.34	0.76211	.	0.278624	0.26971	U	0.021563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8111	17.8044	0.88598	0.0:1.0:0.0:0.0	.	.	.	.	X	1219	.	ENSP00000247087:W1219X	W	-	3	0	AHDC1	27747557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.371000	0.79600	2.490000	0.84030	0.591000	0.81541	TGG		0.602	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			T	27874970	C	T	27874970	4	4	128	1	0	0	0	0	0	1	0	0	412	856	30	2	1158	2	AHDC1	1	27874970	Nonsense_Mutation	SNP	C	TCGA-B0-4700-01A-02D-1534-10		27874970	221375651	1	7809											
GPR148	344561	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	131486857	131486857	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr2:131486857C>T	ENST00000309926.4	+	1	215	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	45				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P45S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCTCAGGGTGCCCAGCTCCAT	0.627																																																1	Substitution - Missense(1)	kidney(1)											79	71	74					2																	131486857		2203	4300	6503	SO:0001583	missense	344561			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.133C>T	2.37:g.131486857C>T	ENSP00000308908:p.Pro45Ser		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	13.08	2.131113	0.37630	.	.	ENSG00000173302	ENST00000309926	T	0.35605	1.3	2.97	-3.76	0.04359	.	0.939982	0.08667	N	0.911494	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	P	0.43857	0.819	B	0.32724	0.151	T	0.20438	-1.0275	10	0.06099	T	0.92	-11.1141	2.0198	0.03506	0.2883:0.3193:0.2856:0.1068	.	45	Q8TDV2	GP148_HUMAN	S	45	ENSP00000308908:P45S	ENSP00000308908:P45S	P	+	1	0	GPR148	131203327	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.204000	0.09425	-0.613000	0.05694	0.462000	0.41574	CCC		0.627	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		T	131486857	C	T	131486857	3	4	128	1	0	0	0	0	1	0	0	0	6655	739	26	2	135	2	GPR148	2	131486857	Missense_Mutation	SNP	C	TCGA-B0-4700-01A-02D-1534-10		131486857	111712516	2	7810											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188197	10188197	+	Splice_Site	SNP	G	G	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr3:10188197G>T	ENST00000256474.2	+	2	1180		c.e2-1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(10)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGTCCCGATAGGTCACCTTTG	0.537		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Unknown(10)	kidney(10)	GRCh37	CS014769|CS984220	VHL	S							164	152	156					3																	10188197		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.341-1G>T	3.37:g.10188197G>T			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763530	0.31228	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3181	0.82935	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163197	1.000000	0.71417	0.999000	0.59377	0.124000	0.20399	7.278000	0.78587	2.530000	0.85305	0.563000	0.77884	.		0.537	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	T	10188197	G	T	10188197	5	4	128	1	0	0	0	0	0	0	1	0	17167	1014	35	4	346	4	VHL	3	10188197	Splice_Site	SNP	G	TCGA-B0-4700-01A-02D-1534-10		10188197	187834233	3	7811											
STAG1	10274	broad.mit.edu;ucsc.edu	37	3	136062774	136062774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr3:136062774G>A	ENST00000383202.2	-	30	3602	c.3346C>T	c.(3346-3348)Caa>Taa	p.Q1116*	STAG1_ENST00000236698.5_Nonsense_Mutation_p.Q1116*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.Q856*|STAG1_ENST00000536929.1_Nonsense_Mutation_p.Q700*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1116					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.Q1116*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GATGTGAGTTGTGGTGCTGGC	0.488																																																1	Substitution - Nonsense(1)	kidney(1)											127	112	117					3																	136062774		2203	4300	6503	SO:0001587	stop_gained	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3346C>T	3.37:g.136062774G>A	ENSP00000372689:p.Gln1116*		O00539|Q6P275	Nonsense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	38	6.812156	0.97857	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.	.	.	5.48	5.48	0.80851	.	0.053095	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.3664	0.94464	0.0:0.0:1.0:0.0	.	.	.	.	X	1116;1116;856;700	.	ENSP00000236698:Q1116X	Q	-	1	0	STAG1	137545464	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.435000	0.97529	2.569000	0.86673	0.655000	0.94253	CAA		0.488	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		A	136062774	G	A	136062774	4	1	128	1	0	0	0	0	0	1	0	0	15247	1386	48	2	450	2	STAG1	3	136062774	Nonsense_Mutation	SNP	G	TCGA-B0-4700-01A-02D-1534-10	125874577	136062774	61959656	4	7812											
MYO10	4651	broad.mit.edu	37	5	16675008	16675008	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr5:16675008G>T	ENST00000513610.1	-	35	5372	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	MYO10_ENST00000505695.1_Missense_Mutation_p.L979M|MYO10_ENST00000427430.2_Missense_Mutation_p.L997M|MYO10_ENST00000515803.1_Missense_Mutation_p.L979M|MYO10_ENST00000274203.9_Missense_Mutation_p.L997M	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1640	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.L1640M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGACTCGGCAGGAAGGTGCAG	0.557																																																1	Substitution - Missense(1)	kidney(1)											108	110	110					5																	16675008		2055	4209	6264	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4918C>A	5.37:g.16675008G>T	ENSP00000421280:p.Leu1640Met		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183630	0.57800	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.91	5.04	0.67666	MyTH4 domain (3);	.	.	.	.	D	0.95812	0.8637	M	0.85859	2.78	0.28910	N	0.892795	P;D;D	0.64830	0.952;0.97;0.994	P;P;P	0.61003	0.793;0.776;0.882	D	0.92391	0.5921	9	0.62326	D	0.03	.	15.2467	0.73511	0.0673:0.0:0.9327:0.0	.	519;1280;1640	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	M	1640;979;997;979;997	ENSP00000421280:L1640M;ENSP00000425051:L979M;ENSP00000274203:L997M;ENSP00000421170:L979M;ENSP00000391106:L997M	ENSP00000274203:L997M	L	-	1	2	MYO10	16728008	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.377000	0.34317	1.506000	0.48736	0.655000	0.94253	CTG		0.557	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16675008	G	T	16675008	3	4	128	1	0	0	0	0	1	0	0	0	10064	991	35	4	1286	4	MYO10	5	16675008	Missense_Mutation	SNP	G	TCGA-B0-4700-01A-02D-1534-10		16675008	164240252	5	7813											
FAM153A	285596	broad.mit.edu;hgsc.bcm.edu	37	5	177166139	177166139	+	Splice_Site	SNP	C	C	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr5:177166139C>A	ENST00000440605.3	-	9	590		c.e9-1		FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000510276.1_Splice_Site|FAM153A_ENST00000393518.3_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A									p.?(1)		kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCGTCTGCCTGCGTTTAGA	0.438																																																1	Unknown(1)	kidney(1)											116	120	119					5																	177166139		2198	4300	6498	SO:0001630	splice_region_variant	285596			AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"NY REN 7 antigen"					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.307-1G>T	5.37:g.177166139C>A			A8K0F3|O94852	Splice_Site	SNP	ENST00000440605.3	37	CCDS34305.1	.	.	.	.	.	.	.	.	.	.	N	3.145	-0.175417	0.06421	.	.	ENSG00000170074	ENST00000510276;ENST00000440605	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1945	0.20542	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM153A	177098745	0.009000	0.17119	0.012000	0.15200	0.008000	0.06430	0.003000	0.13083	1.071000	0.40834	0.621000	0.83404	.		0.438	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1	NM_173663	Intron	A	177166139	C	A	177166139	5	1	128	1	0	0	0	0	0	0	1	0	5462	695	24	4	674	4	FAM153A	5	177166139	Splice_Site	SNP	C	TCGA-B0-4700-01A-02D-1534-10	160491131	177166139	3749121	6	7814											
TAAR5	9038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132910004	132910004	+	Silent	SNP	G	G	T	rs367936802		TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr6:132910004G>T	ENST00000258034.2	-	1	873	c.822C>A	c.(820-822)gtC>gtA	p.V274V		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	274					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.V274V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGAGGCTGTCGACCATCGTGT	0.507																																																1	Substitution - coding silent(1)	kidney(1)											95	98	97					6																	132910004		2203	4300	6503	SO:0001819	synonymous_variant	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.822C>A	6.37:g.132910004G>T			D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	CCDS5156.1																																																																																				0.507	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		T	132910004	G	T	132910004	2	4	128	1	0	0	0	0	0	0	0	1	15496	1045	37	4		4	TAAR5	6	132910004	Silent	SNP	G	TCGA-B0-4700-01A-02D-1534-10		132910004	38205063	7	7815											
OR2F2	135948	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	143633180	143633180	+	Silent	SNP	G	G	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr7:143633180G>A	ENST00000408955.2	+	1	922	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L285L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TGCCTCTGCTGAACCCTGTGA	0.458																																																1	Substitution - coding silent(1)	kidney(1)											84	86	85					7																	143633180		2159	4289	6448	SO:0001819	synonymous_variant	135948				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.855G>A	7.37:g.143633180G>A			A4D2G0|Q6IFP8	Silent	SNP	ENST00000408955.2	37	CCDS43666.1																																																																																				0.458	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			A	143633180	G	A	143633180	2	1	128	1	0	0	0	0	0	0	0	1	10999	1277	45	2		2	OR2F2	7	143633180	Silent	SNP	G	TCGA-B0-4700-01A-02D-1534-10		143633180	15505483	8	7816											
OR13C8	138802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	107332250	107332250	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr9:107332250G>T	ENST00000335040.1	+	1	802	c.802G>T	c.(802-804)Gtt>Ttt	p.V268F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V268F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TAAAGCCTCTGTTGATTCAGG	0.448																																																1	Substitution - Missense(1)	kidney(1)											110	96	101					9																	107332250		2203	4300	6503	SO:0001583	missense	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.802G>T	9.37:g.107332250G>T	ENSP00000334068:p.Val268Phe		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.598170	0.00857	.	.	ENSG00000186943	ENST00000335040	T	0.00145	8.67	4.34	-2.04	0.07343	GPCR, rhodopsin-like superfamily (1);	1.172930	0.06406	N	0.719660	T	0.00109	0.0003	N	0.25890	0.77	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.05162	-1.0902	10	0.10636	T	0.68	.	3.7293	0.08487	0.4224:0.0:0.302:0.2756	.	268	Q8NGS7	O13C8_HUMAN	F	268	ENSP00000334068:V268F	ENSP00000334068:V268F	V	+	1	0	OR13C8	106372071	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.642000	0.00406	-0.401000	0.07644	-1.069000	0.02264	GTT		0.448	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			T	107332250	G	T	107332250	3	4	128	1	0	0	0	0	1	0	0	0	10940	1377	48	4	804	4	OR13C8	9	107332250	Missense_Mutation	SNP	G	TCGA-B0-4700-01A-02D-1534-10		107332250	33881181	9	7817											
OR51L1	119682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5020987	5020987	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr11:5020987G>A	ENST00000321543.1	+	1	775	c.775G>A	c.(775-777)Ggg>Agg	p.G259R		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G259R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCAGTTATTGGGGTGTCAAT	0.473																																																1	Substitution - Missense(1)	kidney(1)											211	183	192					11																	5020987		2201	4298	6499	SO:0001583	missense	119682			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.775G>A	11.37:g.5020987G>A	ENSP00000322156:p.Gly259Arg		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393962	0.42410	.	.	ENSG00000176798	ENST00000321543	T	0.00107	8.72	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000588	T	0.00580	0.0019	M	0.91872	3.25	0.26238	N	0.978913	D	0.89917	1.0	D	0.97110	1.0	T	0.30995	-0.9959	10	0.87932	D	0	.	11.3344	0.49494	0.0:0.0:0.819:0.181	.	259	Q8NGJ5	O51L1_HUMAN	R	259	ENSP00000322156:G259R	ENSP00000322156:G259R	G	+	1	0	OR51L1	4977563	0.019000	0.18553	1.000000	0.80357	0.979000	0.70002	1.481000	0.35476	2.746000	0.94184	0.650000	0.86243	GGG		0.473	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		A	5020987	G	A	5020987	3	1	128	1	0	0	0	0	1	0	0	0	11104	1348	47	2	777	2	OR51L1	11	5020987	Missense_Mutation	SNP	G	TCGA-B0-4700-01A-02D-1534-10		5020987	129985529	10	7818											
OR52E8	390079	broad.mit.edu;hgsc.bcm.edu	37	11	5878479	5878479	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr11:5878479C>T	ENST00000537935.1	-	1	485	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCAATGCCTGCAATGAGG	0.502																																																1	Substitution - Missense(1)	kidney(1)											161	179	173					11																	5878479		2157	4296	6453	SO:0001583	missense	390079			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.454G>A	11.37:g.5878479C>T	ENSP00000444054:p.Gly152Ser		B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	9.412	1.080746	0.20309	.	.	ENSG00000183269	ENST00000537935	T	0.37584	1.19	4.35	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.380247	0.22156	N	0.063850	T	0.25082	0.0609	L	0.31926	0.97	0.09310	N	1	B	0.14012	0.009	B	0.18263	0.021	T	0.16660	-1.0395	10	0.36615	T	0.2	.	8.4314	0.32759	0.1647:0.515:0.3202:0.0	.	152	Q6IFG1	O52E8_HUMAN	S	152	ENSP00000444054:G152S	ENSP00000444054:G152S	G	-	1	0	OR52E8	5835055	0.000000	0.05858	0.029000	0.17559	0.519000	0.34347	-0.135000	0.10420	0.488000	0.27723	0.549000	0.68633	GGC		0.502	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		T	5878479	C	T	5878479	3	4	128	1	0	0	0	0	1	0	0	0	11120	681	24	2	501	2	OR52E8	11	5878479	Missense_Mutation	SNP	C	TCGA-B0-4700-01A-02D-1534-10	857492	5878479	129128037	11	7819											
WNT5B	81029	broad.mit.edu	37	12	1755046	1755046	+	Silent	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr12:1755046C>T	ENST00000397196.2	+	5	940	c.708C>T	c.(706-708)gcC>gcT	p.A236A	WNT5B_ENST00000542408.1_3'UTR|WNT5B_ENST00000537031.1_Silent_p.A236A|WNT5B_ENST00000310594.3_Silent_p.A236A|WNT5B_ENST00000545747.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	236					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)	p.A236A(1)		skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGCAGCTGGCCGAGTTCCGCA	0.647																																																1	Substitution - coding silent(1)	kidney(1)											30	35	34					12																	1755046		2201	4288	6489	SO:0001819	synonymous_variant	81029			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.708C>T	12.37:g.1755046C>T			A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP	ENST00000397196.2	37	CCDS8510.1																																																																																				0.647	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			T	1755046	C	T	1755046	2	4	128	1	0	0	0	0	0	0	0	1	17397	639	23	1		1	WNT5B	12	1755046	Silent	SNP	C	TCGA-B0-4700-01A-02D-1534-10		1755046	132096849	12	7820											
BICD1	636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32490734	32490734	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr12:32490734G>A	ENST00000281474.5	+	7	2657	c.2554G>A	c.(2554-2556)Ggc>Agc	p.G852S	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	852					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.G852S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGTCAGCAGTGGCACTCAGAG	0.502																																																1	Substitution - Missense(1)	kidney(1)											106	96	99					12																	32490734		2203	4300	6503	SO:0001583	missense	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2554G>A	12.37:g.32490734G>A	ENSP00000281474:p.Gly852Ser		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158348	0.78114	.	.	ENSG00000151746	ENST00000281474	T	0.56776	0.44	4.9	4.9	0.64082	.	0.000000	0.52532	D	0.000074	T	0.52338	0.1728	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.54892	-0.8225	9	.	.	.	.	16.4475	0.83942	0.0:0.0:1.0:0.0	.	852	Q96G01	BICD1_HUMAN	S	852	ENSP00000281474:G852S	.	G	+	1	0	BICD1	32382001	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.545000	0.85829	0.591000	0.81541	GGC		0.502	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		A	32490734	G	A	32490734	3	1	128	1	0	0	0	0	1	0	0	0	1428	1348	47	2	2580	2	BICD1	12	32490734	Missense_Mutation	SNP	G	TCGA-B0-4700-01A-02D-1534-10	30735688	32490734	101361161	13	7821											
AMN	81693	broad.mit.edu	37	14	103396005	103396005	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr14:103396005delG	ENST00000299155.5	+	8	807	c.774delG	c.(772-774)ttgfs	p.L259fs		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	259					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTTGTGTTGCTGACCCACG	0.701																																																0													8	9	9					14																	103396005		2067	4075	6142	SO:0001589	frameshift_variant	81693			AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.774delG	14.37:g.103396005delG	ENSP00000299155:p.Leu259fs		Q6UX83	Frame_Shift_Del	DEL	ENST00000299155.5	37	CCDS9977.1																																																																																				0.701	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			-	103396005	G	-	103396005	7	5	128	1	0	1	0	1	0	0	0	0	580	1310	46	0	804	0	AMN	14	103396005	Frame_Shift_Del	DEL	G	TCGA-B0-4700-01A-02D-1534-10		103396005	3953535	14	7822											
IL4R	3566	broad.mit.edu;hgsc.bcm.edu	37	16	27367167	27367167	+	Missense_Mutation	SNP	G	G	A	rs574403910		TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr16:27367167G>A	ENST00000395762.2	+	8	968	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.V222I|IL4R_ENST00000170630.2_Missense_Mutation_p.V237I|IL4R_ENST00000543915.2_Missense_Mutation_p.V237I	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	237					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.V237I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTGCTGGGCGTCAGCGTTTC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18228	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											142	109	120					16																	27367167		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.709G>A	16.37:g.27367167G>A	ENSP00000379111:p.Val237Ile		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875632	0.33162	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.11495	2.77;2.77;2.81;2.77	4.6	3.62	0.41486	.	2.425450	0.01272	N	0.009468	T	0.11281	0.0275	L	0.55481	1.735	0.09310	N	1	P;P;P	0.43519	0.809;0.809;0.809	B;B;B	0.30316	0.114;0.086;0.086	T	0.35943	-0.9768	10	0.33141	T	0.24	-20.6487	7.6584	0.28389	0.122:0.0:0.878:0.0	.	222;237;237	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	I	237;237;222;237	ENSP00000379111:V237I;ENSP00000441667:V237I;ENSP00000370309:V222I;ENSP00000170630:V237I	ENSP00000170630:V237I	V	+	1	0	IL4R	27274668	0.205000	0.23458	0.023000	0.16930	0.002000	0.02628	1.229000	0.32600	1.104000	0.41587	0.561000	0.74099	GTC		0.617	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			A	27367167	G	A	27367167	3	1	128	1	0	0	0	0	1	0	0	0	7700	1145	40	1	749	1	IL4R	16	27367167	Missense_Mutation	SNP	G	TCGA-B0-4700-01A-02D-1534-10		27367167	62987586	15	7823											
SULT1A2	6799	broad.mit.edu;hgsc.bcm.edu	37	16	28607132	28607132	+	Silent	SNP	G	G	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr16:28607132G>A	ENST00000395630.1	-	2	470	c.120C>T	c.(118-120)gaC>gaT	p.D40D	SULT1A2_ENST00000335715.4_Silent_p.D40D|SULT1A2_ENST00000533150.1_Silent_p.D40D	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	40					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)	p.D40D(1)		NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGATGAGCAGGTCATCAGGCC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											51	50	50					16																	28607132		2197	4300	6497	SO:0001819	synonymous_variant	6799			U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"Sulfotransferases, cytosolic"	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.120C>T	16.37:g.28607132G>A			A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	CCDS10636.1																																																																																				0.647	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		A	28607132	G	A	28607132	2	1	128	1	0	0	0	0	0	0	0	1	15378	1252	44	2		2	SULT1A2	16	28607132	Silent	SNP	G	TCGA-B0-4700-01A-02D-1534-10	1239965	28607132	61747621	16	7824											
DAZAP1	26528	hgsc.bcm.edu	37	19	1432568	1432569	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr19:1432568_1432569insC	ENST00000233078.4	+	11	1088_1089	c.927_928insC	c.(928-930)cctfs	p.P310fs	DAZAP1_ENST00000336761.6_Frame_Shift_Ins_p.P310fs	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	310	Pro-rich.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGGGGGTTCCTCCTCCACC	0.649																																																0																																										SO:0001589	frameshift_variant	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.929dupC	19.37:g.1432570_1432570dupC	ENSP00000233078:p.Pro310fs		Q96MJ3|Q9NRR9	Frame_Shift_Ins	INS	ENST00000233078.4	37	CCDS12065.1																																																																																				0.649	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		C	1432569	-	C	1432568	7	5	128	1	0	1	1	0	0	0	0	0	4246	1770	62	0	969	0	DAZAP1	19	1432568	Frame_Shift_Ins	INS	-	TCGA-B0-4700-01A-02D-1534-10		1432568	57696415	17	7825											
ETHE1	23474	hgsc.bcm.edu	37	19	44030464	44030465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr19:44030464_44030465insG	ENST00000292147.2	-	3	329_330	c.263_264insC	c.(262-264)tcgfs	p.S88fs	ZNF575_ENST00000458714.2_Intron|ETHE1_ENST00000600651.1_Frame_Shift_Ins_p.S88fs	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	88					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GGAGCAGCCCCGAGCCTGTAAT	0.614																																																0																																										SO:0001589	frameshift_variant	23474				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.264dupC	19.37:g.44030465_44030465dupG	ENSP00000292147:p.Ser88fs		Q96HR0|Q9H001	Frame_Shift_Ins	INS	ENST00000292147.2	37	CCDS12622.1																																																																																				0.614	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		G	44030465	-	G	44030464	7	5	128	1	0	1	1	0	0	0	0	0	5274	639	23	0	520	0	ETHE1	19	44030464	Frame_Shift_Ins	INS	-	TCGA-B0-4700-01A-02D-1534-10	42597896	44030464	15098519	18	7826											
TRPC4AP	26133	broad.mit.edu;ucsc.edu	37	20	33596526	33596526	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr20:33596526C>G	ENST00000252015.2	-	13	1625	c.1536G>C	c.(1534-1536)agG>agC	p.R512S	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R504S|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R114S|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R473S			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	512					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.R512S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTAATAAGCCCCTCTTCCCAT	0.537																																																1	Substitution - Missense(1)	kidney(1)											114	111	112					20																	33596526		2203	4300	6503	SO:0001583	missense	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1536G>C	20.37:g.33596526C>G	ENSP00000252015:p.Arg512Ser		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278558	0.40294	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	5.55	-0.1	0.13621	.	0.043555	0.85682	D	0.000000	T	0.30885	0.0779	N	0.20685	0.6	0.44373	D	0.997271	B;B;B	0.33777	0.244;0.425;0.425	B;B;B	0.31812	0.088;0.136;0.136	T	0.03641	-1.1017	9	0.33940	T	0.23	.	8.4418	0.32820	0.0:0.3166:0.0:0.6834	.	473;504;512	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	S	512;504;114;473;497	.	ENSP00000252015:R512S	R	-	3	2	TRPC4AP	33060187	0.998000	0.40836	0.999000	0.59377	0.938000	0.57974	0.412000	0.21131	0.127000	0.18452	-0.345000	0.07892	AGG		0.537	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		G	33596526	C	G	33596526	3	3	128	1	0	0	0	0	1	0	0	0	16586	622	22	4	885	4	TRPC4AP	20	33596526	Missense_Mutation	SNP	C	TCGA-B0-4700-01A-02D-1534-10		33596526	29428994	19	7827											
MOCS3	8813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	49576093	49576093	+	5'Flank	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr20:49576093C>T	ENST00000371588.5	-	0	0				DPM1_ENST00000466152.1_5'Flank|MOCS3_ENST00000244051.1_Silent_p.N238N|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)	p.N238N(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CAGTGACCAACTGCGCGGACG	0.622																																																1	Substitution - coding silent(1)	kidney(1)											58	64	62					20																	49576093		2203	4300	6503	SO:0001631	upstream_gene_variant	27304			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576093C>T	Exception_encountered		O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	CCDS13434.1																																																																																				0.622	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		T	49576093	C	T	49576093	1	4	128	0	1	0	0	0	0	0	0	0	9694	564	20	2		2	MOCS3	20	49576093	5'Flank	SNP	C	TCGA-B0-4700-01A-02D-1534-10	15979567	49576093	13449427	20	7828											
RAB22A	57403	broad.mit.edu	37	20	56886167	56886167	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr20:56886167C>A	ENST00000244040.3	+	2	386	c.105C>A	c.(103-105)aaC>aaA	p.N35K	RAB22A_ENST00000488949.1_3'UTR|PPP4R1L_ENST00000244070.3_5'Flank|PPP4R1L_ENST00000334187.8_5'Flank|PPP4R1L_ENST00000462333.1_5'Flank	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	35					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N35K(1)		endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			CAAACATCAACCCAACAATAG	0.408																																																1	Substitution - Missense(1)	kidney(1)											196	179	185					20																	56886167		2203	4300	6503	SO:0001583	missense	57403			AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"RAB, member RAS oncogene"	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.105C>A	20.37:g.56886167C>A	ENSP00000244040:p.Asn35Lys		B3KR86|E1P605|Q8TF12|Q9H4E6	Missense_Mutation	SNP	ENST00000244040.3	37	CCDS33497.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336923	0.24253	.	.	ENSG00000124209	ENST00000244040	T	0.75589	-0.95	5.24	0.409	0.16382	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	N	0.04746	-0.17	0.58432	D	0.999995	P	0.50443	0.935	P	0.46208	0.507	T	0.37934	-0.9684	10	0.22109	T	0.4	-28.6014	4.2139	0.10524	0.158:0.4684:0.0:0.3735	.	35	Q9UL26	RB22A_HUMAN	K	35	ENSP00000244040:N35K	ENSP00000244040:N35K	N	+	3	2	RAB22A	56319573	0.999000	0.42202	1.000000	0.80357	0.436000	0.31835	0.469000	0.22067	0.265000	0.21872	-1.478000	0.00992	AAC		0.408	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079880.2			A	56886167	C	A	56886167	3	1	128	1	0	0	0	0	1	0	0	0	12915	506	18	4	111	4	RAB22A	20	56886167	Missense_Mutation	SNP	C	TCGA-B0-4700-01A-02D-1534-10	7310074	56886167	6139353	21	7829											
CACNA1F	778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	49072841	49072841	+	Splice_Site	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chrX:49072841C>T	ENST00000376265.2	-	27	3331		c.e27+1		CACNA1F_ENST00000323022.5_Splice_Site|CACNA1F_ENST00000376251.1_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGTCCCTCACGCAGGCCAGC	0.572																																																1	Unknown(1)	kidney(1)											58	45	49					X																	49072841		2203	4299	6502	SO:0001630	splice_region_variant	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3269+1G>A	X.37:g.49072841C>T			A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Splice_Site	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738318	0.69304	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7625	0.78096	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA1F	48959785	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.758000	0.85224	1.964000	0.57103	0.506000	0.49869	.		0.572	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	Intron	T	49072841	C	T	49072841	5	4	128	1	0	0	0	0	0	0	1	0	2545	550	19	1	2751	1	CACNA1F	23	49072841	Splice_Site	SNP	C	TCGA-B0-4700-01A-02D-1534-10		49072841	106197719	22	7830											
TAF7L	54457	hgsc.bcm.edu	37	X	100531461	100531461	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chrX:100531461A>C	ENST00000372907.3	-	10	1016	c.1005T>G	c.(1003-1005)gaT>gaG	p.D335E	TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.D249E|TAF7L_ENST00000372905.2_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						cctcatcctcatcatcatcat	0.388																																					Ovarian(104;431 1530 3210 15406 18594)											0													230	188	202					X																	100531461		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1005T>G	X.37:g.100531461A>C	ENSP00000361998:p.Asp335Glu		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	a	1.822	-0.471942	0.04445	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.19250	3.78;2.16	4.32	-8.64	0.00874	Armadillo-like helical (1);	1.650880	0.04088	N	0.310822	T	0.06142	0.0159	N	0.02345	-0.59	0.33173	D	0.548527	B	0.06786	0.001	B	0.06405	0.002	T	0.17653	-1.0362	10	0.02654	T	1	0.5043	9.2416	0.37500	0.1182:0.4381:0.0:0.4437	.	335	Q5H9L4	TAF7L_HUMAN	E	335;249	ENSP00000361998:D335E;ENSP00000349235:D249E	ENSP00000349235:D249E	D	-	3	2	TAF7L	100418117	0.000000	0.05858	0.000000	0.03702	0.497000	0.33675	-2.805000	0.00758	-3.002000	0.00275	0.378000	0.23410	GAT		0.388	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			C	100531461	A	C	100531461	3	2	128	1	0	0	0	0	1	0	0	0	15538	214	8	5	399	5	TAF7L	23	100531461	Missense_Mutation	SNP	A	TCGA-B0-4700-01A-02D-1534-10	51458620	100531461	54739099	23	7831											
STAG2	10735	broad.mit.edu	37	X	123191777	123191777	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chrX:123191777C>G	ENST00000371160.1	+	15	1656	c.1366C>G	c.(1366-1368)Cca>Gca	p.P456A	STAG2_ENST00000354548.5_Missense_Mutation_p.P387A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.P456A|STAG2_ENST00000371157.3_Missense_Mutation_p.P456A|STAG2_ENST00000371144.3_Missense_Mutation_p.P456A|STAG2_ENST00000371145.3_Missense_Mutation_p.P456A	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	456					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.P456A(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAGACAAGGTCCAAATGCCAA	0.328																																																2	Substitution - Missense(2)	kidney(2)											141	131	134					X																	123191777		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1366C>G	X.37:g.123191777C>G	ENSP00000360202:p.Pro456Ala		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037345	0.54896	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.43688	1.9;0.94;1.51;1.5;1.5;1.9;1.5	5.74	5.74	0.90152	Armadillo-type fold (1);	0.121946	0.56097	D	0.000024	T	0.39682	0.1087	L	0.39397	1.21	0.51233	D	0.999919	B;B	0.26708	0.026;0.157	B;B	0.29524	0.025;0.103	T	0.12142	-1.0559	10	0.30078	T	0.28	-12.3749	18.8857	0.92376	0.0:1.0:0.0:0.0	.	456;456	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	A	456;456;387;456;456;456;456	ENSP00000218089:P456A;ENSP00000397265:P456A;ENSP00000346555:P387A;ENSP00000360202:P456A;ENSP00000360199:P456A;ENSP00000360187:P456A;ENSP00000360186:P456A	ENSP00000218089:P456A	P	+	1	0	STAG2	123019458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.822000	0.69265	2.407000	0.81776	0.600000	0.82982	CCA		0.328	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		G	123191777	C	G	123191777	3	3	128	1	0	0	0	0	1	0	0	0	15248	855	30	4	1416	4	STAG2	23	123191777	Missense_Mutation	SNP	C	TCGA-B0-4700-01A-02D-1534-10	22660316	123191777	32078783	24	7832											
FMR1	2332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	147014114	147014114	+	Splice_Site	SNP	G	G	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chrX:147014114G>T	ENST00000370475.4	+	8	929	c.801G>T	c.(799-801)gaG>gaT	p.E267D	FMR1_ENST00000370471.3_Splice_Site_p.E267D|FMR1_ENST00000334557.6_Splice_Site_p.E267D|FMR1_ENST00000218200.8_Splice_Site_p.E267D|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Splice_Site_p.E267D|FMR1_ENST00000370470.1_Splice_Site_p.E267D|FMR1_ENST00000370477.1_Splice_Site_p.E267D	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	267					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E267D(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TTTATGGAGAGGTAAATATTT	0.358									Fragile X syndrome																																							1	Substitution - Missense(1)	kidney(1)											128	125	126					X																	147014114		2203	4300	6503	SO:0001630	splice_region_variant	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.801+1G>T	X.37:g.147014114G>T			A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801153	0.90538	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.78	5.78	0.91487	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.76002	2.32	0.80722	D	1	B;P;P;D;D	0.89917	0.35;0.751;0.867;1.0;0.996	B;P;P;D;D	0.71414	0.443;0.831;0.794;0.973;0.936	T	0.66452	-0.5920	10	0.51188	T	0.08	-27.921	17.8786	0.88833	0.0:0.0:1.0:0.0	.	267;267;183;267;267	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	D	267	ENSP00000218200:E267D;ENSP00000359502:E267D;ENSP00000359508:E267D;ENSP00000359506:E267D;ENSP00000355115:E267D;ENSP00000395923:E267D;ENSP00000359501:E267D	ENSP00000218200:E267D	E	+	3	2	FMR1	146821806	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.400000	0.97290	2.443000	0.82685	0.538000	0.68166	GAG		0.358	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024	Missense_Mutation	T	147014114	G	T	147014114	5	4	128	1	0	0	0	0	0	0	1	0	5962	1014	35	4	831	4	FMR1	23	147014114	Splice_Site	SNP	G	TCGA-B0-4700-01A-02D-1534-10	23822337	147014114	8256446	25	7833											
MECP2	4204	broad.mit.edu;ucsc.edu	37	X	153296886	153296886	+	Silent	SNP	G	G	C	rs61748385		TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chrX:153296886G>C	ENST00000303391.6	-	4	642	c.393C>G	c.(391-393)gcC>gcG	p.A131A	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000407218.1_Silent_p.A131A|MECP2_ENST00000453960.2_Silent_p.A143A	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	131	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.A131A(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGAGCGAAAGGCTTTTCCCT	0.502																																																1	Substitution - coding silent(1)	kidney(1)											77	75	76					X																	153296886		2203	4300	6503	SO:0001819	synonymous_variant	4204			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.393C>G	X.37:g.153296886G>C			O15233|Q6QHH9|Q7Z384	Silent	SNP	ENST00000303391.6	37	CCDS14741.1																																																																																				0.502	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		C	153296886	G	C	153296886	2	2	128	1	0	0	0	0	0	0	0	1	9425	987	35	4		4	MECP2	23	153296886	Silent	SNP	G	TCGA-B0-4700-01A-02D-1534-10	6282772	153296886	1973674	26	7834											
VHL	7428	hgsc.bcm.edu	37	3	10183863	10183863	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4703-01A-01W-1359-10	TCGA-B0-4703-11A-01W-1359-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	7de1248d-d072-482c-b2c0-3101aebf3c9d	0fbd7142-f929-46d1-bb7a-1d50350da63b	g.chr3:10183863G>A	ENST00000256474.2	+	1	1172	c.332G>A	c.(331-333)aGc>aAc	p.S111N	VHL_ENST00000345392.2_Missense_Mutation_p.S111N|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	111	Involved in binding to CCT complex.		S -> C (in VHLD; type II).|S -> N (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S111N(5)|p.S111I(2)|p.S111fs*49(1)|p.?(1)|p.I109_R113del(1)|p.S111fs*22(1)|p.S111fs*45(1)|p.H110_S111del(1)|p.S111_Y112del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCATCCACAGCTACCGAGGT	0.692		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	14	Substitution - Missense(7)|Deletion - In frame(3)|Insertion - Frameshift(2)|Deletion - Frameshift(1)|Unknown(1)	kidney(14)	GRCh37	CM951280|HM971583	VHL	M							10	12	11					3																	10183863		1804	3758	5562	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.332G>A	3.37:g.10183863G>A	ENSP00000256474:p.Ser111Asn		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342270	0.61073	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99760	-6.66;-6.66	5.17	3.37	0.38596	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.096185	0.64402	N	0.000001	D	0.98532	0.9510	L	0.36672	1.1	0.21220	N	0.999751	B;B	0.27229	0.172;0.143	B;B	0.31686	0.134;0.091	D	0.99293	1.0899	10	0.54805	T	0.06	-5.879	4.2645	0.10757	0.0854:0.1565:0.5963:0.1618	.	111;111	P40337-2;P40337	.;VHL_HUMAN	N	111;111;29	ENSP00000256474:S111N;ENSP00000344757:S111N	ENSP00000256474:S111N	S	+	2	0	VHL	10158863	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.866000	0.56040	0.580000	0.29522	0.479000	0.44913	AGC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183863	G	A	10183863	3	1	129	1	0	0	0	0	1	0	0	0	17167	971	34	2	334	2	VHL	3	10183863	Missense_Mutation	SNP	G	TCGA-B0-4703-01A-01W-1359-10		10183863	187838567	1	7835											
TPRG1L	127262	broad.mit.edu;hgsc.bcm.edu	37	1	3545080	3545080	+	Silent	SNP	C	C	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr1:3545080C>T	ENST00000378344.2	+	5	803	c.732C>T	c.(730-732)ctC>ctT	p.L244L	TPRG1L_ENST00000344579.5_Silent_p.L185L	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	244						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)		p.L244L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GCCCCCTGCTCATCGAGACCT	0.532																																																1	Substitution - coding silent(1)	kidney(1)											74	68	70					1																	3545080		2202	4300	6502	SO:0001819	synonymous_variant	127262			BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"family with sequence similarity 79, member A"	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.732C>T	1.37:g.3545080C>T			A8K1K4|Q8WV04	Silent	SNP	ENST00000378344.2	37	CCDS47.1																																																																																				0.532	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1	NM_182752		T	3545080	C	T	3545080	2	4	130	1	0	0	0	0	0	0	0	1	16424	813	29	2		2	TPRG1L	1	3545080	Silent	SNP	C	TCGA-B0-4706-01A-01D-1501-10		3545080	245705541	1	7836											
ZMYM1	79830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35580687	35580688	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr1:35580687_35580688TC>AT	ENST00000373330.1	+	11	3430_3431	c.3256_3257TC>AT	c.(3256-3258)TCa>ATa	p.S1086I	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S1086I			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1086						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S1086L(1)|p.S1086T(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACTGAGAACTCATTTTCTACC	0.401																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	Exception_encountered	1.37:g.35580687_35580688delinsAT	ENSP00000362427:p.Ser1086Ile		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	CCDS41302.1																																																																																				0.401	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		AT	35580688	TC	AT	35580687	3	1	130	1	0	0	0	0	1	0	0	0	17704	1551	54	5	3290	5	ZMYM1	1	35580687	Missense_Mutation	DNP	TC	TCGA-B0-4706-01A-01D-1501-10	32035607	35580687	213669934	2	7837											
NTRK1	4914	broad.mit.edu	37	1	156843581	156843581	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr1:156843581C>A	ENST00000524377.1	+	8	1048	c.1007C>A	c.(1006-1008)gCa>gAa	p.A336E	NTRK1_ENST00000368196.3_Missense_Mutation_p.A336E|NTRK1_ENST00000358660.3_Missense_Mutation_p.A336E|NTRK1_ENST00000392302.2_Missense_Mutation_p.A306E	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	336	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A336E(3)|p.A306E(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTGGAGCCGGCAGCCAATGAG	0.622			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	6	Substitution - Missense(6)	endometrium(4)|kidney(2)											46	35	39					1																	156843581		2203	4299	6502	SO:0001583	missense	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1007C>A	1.37:g.156843581C>A	ENSP00000431418:p.Ala336Glu		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	8.154	0.788039	0.16258	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	6.17	2.08	0.27032	Immunoglobulin-like fold (1);	0.558200	0.17457	N	0.173565	T	0.05318	0.0141	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.12630	0.006;0.003;0.001;0.005	B;B;B;B	0.12837	0.004;0.004;0.002;0.008	T	0.36529	-0.9744	10	0.21540	T	0.41	.	2.0518	0.03572	0.1195:0.4548:0.2106:0.2151	.	336;336;336;306	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	E	306;336;336;336	ENSP00000376120:A306E;ENSP00000357179:A336E;ENSP00000431418:A336E;ENSP00000351486:A336E	ENSP00000351486:A336E	A	+	2	0	NTRK1	155110205	0.000000	0.05858	0.004000	0.12327	0.742000	0.42306	0.343000	0.19944	0.490000	0.27771	0.655000	0.94253	GCA		0.622	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		A	156843581	C	A	156843581	3	1	130	1	0	0	0	0	1	0	0	0	10708	710	25	4	1167	4	NTRK1	1	156843581	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10	121262894	156843581	92407040	3	7838											
SPTBN1	6711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	54871514	54871514	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr2:54871514delA	ENST00000356805.4	+	20	4341	c.4060delA	c.(4060-4062)aaafs	p.K1354fs	SPTBN1_ENST00000333896.5_Frame_Shift_Del_p.K1341fs	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1354					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGTGAAGGAGAAACTCACTGG	0.443																																																0													84	87	86					2																	54871514		2203	4300	6503	SO:0001589	frameshift_variant	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4060delA	2.37:g.54871514delA	ENSP00000349259:p.Lys1354fs		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Frame_Shift_Del	DEL	ENST00000356805.4	37	CCDS33198.1																																																																																				0.443	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			-	54871514	A	-	54871514	7	5	130	1	0	1	0	1	0	0	0	0	15124	247	9	0	4247	0	SPTBN1	2	54871514	Frame_Shift_Del	DEL	A	TCGA-B0-4706-01A-01D-1501-10		54871514	188327859	4	7839											
MRPS5	64969	broad.mit.edu;hgsc.bcm.edu	37	2	95773989	95773989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr2:95773989C>A	ENST00000272418.2	-	5	776	c.568G>T	c.(568-570)Gag>Tag	p.E190*		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	190					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E190*(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATCCTCGCTCCCGTTTAACC	0.532																																																1	Substitution - Nonsense(1)	kidney(1)											210	172	185					2																	95773989		2203	4300	6503	SO:0001587	stop_gained	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.568G>T	2.37:g.95773989C>A	ENSP00000272418:p.Glu190*		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Nonsense_Mutation	SNP	ENST00000272418.2	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396195	0.42512	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.6684	16.3231	0.82958	0.0:1.0:0.0:0.0	.	.	.	.	X	190	.	ENSP00000272418:E190X	E	-	1	0	MRPS5	95137716	1.000000	0.71417	0.999000	0.59377	0.045000	0.14185	5.504000	0.66968	2.526000	0.85167	0.462000	0.41574	GAG		0.532	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		A	95773989	C	A	95773989	4	1	130	1	0	0	0	0	0	1	0	0	9848	864	30	4	756	4	MRPS5	2	95773989	Nonsense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10	40902475	95773989	147425384	5	7840											
FAM123C	205147	broad.mit.edu	37	2	131520998	131520998	+	Silent	SNP	G	G	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr2:131520998G>A	ENST00000423981.1	+	2	1463	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	AMER3_ENST00000321420.4_Silent_p.P451P	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	451					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P451P(2)									TGTCAGGGCCGGCCCTGGGGA	0.662																																																2	Substitution - coding silent(2)	prostate(1)|kidney(1)											33	36	35					2																	131520998		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1353G>A	2.37:g.131520998G>A			B7ZLH6	Silent	SNP	ENST00000423981.1	37	CCDS2164.1																																																																																				0.662	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		A	131520998	G	A	131520998	2	1	130	1	0	0	0	0	0	0	0	1	5426	1103	39	1		1	FAM123C	2	131520998	Silent	SNP	G	TCGA-B0-4706-01A-01D-1501-10	35747009	131520998	111678375	6	7841											
DNAJC10	54431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	183623959	183623959	+	Silent	SNP	T	T	C	rs140227116		TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr2:183623959T>C	ENST00000264065.7	+	21	2485	c.2070T>C	c.(2068-2070)caT>caC	p.H690H		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	690	Thioredoxin 4. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.H690H(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGAAAAATCATTGGGTGATTG	0.383													T|||	1	0.000199681	0.0	0.0014	5008	,	,		15205	0.0		0.0	False		,,,				2504	0.0				Pancreas(56;860 1183 25669 35822 48585)											1	Substitution - coding silent(1)	kidney(1)						T		0,4406		0,0,2203	94	93	93		2070	-10.9	0.2	2	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAJC10	NM_018981.1		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		690/794	183623959	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.2070T>C	2.37:g.183623959T>C			Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	CCDS33345.1																																																																																				0.383	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		C	183623959	T	C	183623959	2	2	130	1	0	0	0	0	0	0	0	1	4631	1490	52	3		3	DNAJC10	2	183623959	Silent	SNP	T	TCGA-B0-4706-01A-01D-1501-10	52102961	183623959	59575414	7	7842											
GAL3ST2	64090	broad.mit.edu;hgsc.bcm.edu	37	2	242741353	242741353	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr2:242741353G>T	ENST00000192314.6	+	3	408	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	93					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.G93C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CGTCCACCTGGGCTACCCCTG	0.652																																																1	Substitution - Missense(1)	kidney(1)											52	48	50					2																	242741353		2203	4299	6502	SO:0001583	missense	64090			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.277G>T	2.37:g.242741353G>T	ENSP00000192314:p.Gly93Cys		Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104033	0.37145	.	.	ENSG00000154252	ENST00000192314	T	0.14022	2.54	3.8	2.89	0.33648	.	0.000000	0.64402	D	0.000006	T	0.31136	0.0787	M	0.73962	2.25	0.34199	D	0.672966	D	0.89917	1.0	D	0.79108	0.992	T	0.40720	-0.9548	10	0.52906	T	0.07	-47.7868	6.7483	0.23474	0.0915:0.0:0.7309:0.1776	.	93	Q9H3Q3	G3ST2_HUMAN	C	93	ENSP00000192314:G93C	ENSP00000192314:G93C	G	+	1	0	GAL3ST2	242390026	1.000000	0.71417	0.988000	0.46212	0.030000	0.12068	3.504000	0.53347	0.908000	0.36671	0.306000	0.20318	GGC		0.652	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		T	242741353	G	T	242741353	3	4	130	1	0	0	0	0	1	0	0	0	6200	1232	43	4	287	4	GAL3ST2	2	242741353	Missense_Mutation	SNP	G	TCGA-B0-4706-01A-01D-1501-10	59117394	242741353	458020	8	7843											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191501	10191501	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr3:10191501T>A	ENST00000256474.2	+	3	1334	c.494T>A	c.(493-495)gTt>gAt	p.V165D	VHL_ENST00000345392.2_Missense_Mutation_p.V124D|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	165	Interaction with Elongin BC complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V165D(2)|p.V165_V166insV(1)|p.V166fs*8(1)|p.V166fs*5(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCCTCCAGGTTGTCCGGAGC	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	5	Substitution - Missense(2)|Insertion - Frameshift(2)|Insertion - In frame(1)	kidney(5)	GRCh37	HM971603	VHL	M							92	84	86					3																	10191501		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.494T>A	3.37:g.10191501T>A	ENSP00000256474:p.Val165Asp		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517790	0.85495	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99832	-7.02;-7.02	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97130	0.9817	10	0.72032	D	0.01	-4.1006	12.7224	0.57149	0.0:0.0:0.0:1.0	.	124;165	P40337-2;P40337	.;VHL_HUMAN	D	165;124;83	ENSP00000256474:V165D;ENSP00000344757:V124D	ENSP00000256474:V165D	V	+	2	0	VHL	10166501	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	5.790000	0.69038	2.162000	0.67917	0.533000	0.62120	GTT		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10191501	T	A	10191501	3	1	130	1	0	0	0	0	1	0	0	0	17167	1725	60	5	504	5	VHL	3	10191501	Missense_Mutation	SNP	T	TCGA-B0-4706-01A-01D-1501-10		10191501	187830929	9	7844											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52598097	52598102	+	In_Frame_Del	DEL	TAGCAG	TAGCAG	-	rs150890583		TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	TAGCAG	TAGCAG	TAGCAG	-	TAGCAG	TAGCAG	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr3:52598097_52598102delTAGCAG	ENST00000296302.7	-	23	3840_3845	c.3839_3844delCTGCTA	c.(3838-3846)tctgctaaa>taa	p.1280_1282SAK>*	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_In_Frame_Del_p.1295_1297SAK>*|PBRM1_ENST00000409057.1_In_Frame_Del_p.1280_1282SAK>*|PBRM1_ENST00000410007.1_In_Frame_Del_p.1255_1257SAK>*|PBRM1_ENST00000409114.3_In_Frame_Del_p.1295_1297SAK>*|PBRM1_ENST00000394830.3_In_Frame_Del_p.1255_1257SAK>*|PBRM1_ENST00000356770.4_In_Frame_Del_p.1248_1250SAK>*|PBRM1_ENST00000337303.4_In_Frame_Del_p.1280_1282SAK>*			Q86U86	PB1_HUMAN	polybromo 1	1280					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTACCACTTTAGCAGAGAGTGAAAA	0.374			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001651	inframe_deletion	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3839_3844delCTGCTA	3.37:g.52598097_52598102delTAGCAG	ENSP00000296302:p.Ser1280_Lys1282delins*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	In_Frame_Del	DEL	ENST00000296302.7	37																																																																																					0.374	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52598102	TAGCAG	-	52598097	7	5	130	1	0	1	0	1	0	0	0	0	11493	1763	61	0	1088	0	PBRM1	3	52598097	In_Frame_Del	DEL	TAGCAG	TCGA-B0-4706-01A-01D-1501-10	42406596	52598097	145424333	10	7845											
NCAPG	64151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	17826669	17826670	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr4:17826669_17826670delAA	ENST00000251496.2	+	10	1638_1639	c.1462_1463delAA	c.(1462-1464)aaafs	p.K488fs		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	488					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TGTAAGAAAGAAAGAACTCAAG	0.391																																																0																																										SO:0001589	frameshift_variant	64151			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1462_1463delAA	4.37:g.17826669_17826670delAA	ENSP00000251496:p.Lys488fs		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Frame_Shift_Del	DEL	ENST00000251496.2	37	CCDS3424.1																																																																																				0.391	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		-	17826670	AA	-	17826669	7	5	130	1	0	1	0	1	0	0	0	0	10209	247	9	0	1500	0	NCAPG	4	17826669	Frame_Shift_Del	DEL	AA	TCGA-B0-4706-01A-01D-1501-10		17826669	173327607	11	7846											
NPNT	255743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	106863727	106863727	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr4:106863727C>A	ENST00000379987.2	+	8	1243	c.1027C>A	c.(1027-1029)Cca>Aca	p.P343T	NPNT_ENST00000305572.8_Missense_Mutation_p.P343T|NPNT_ENST00000427316.2_Missense_Mutation_p.P373T|NPNT_ENST00000506666.1_Missense_Mutation_p.P373T|NPNT_ENST00000453617.2_Missense_Mutation_p.P360T|NPNT_ENST00000514622.1_Missense_Mutation_p.P343T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	343	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.P343T(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AACACCTCTACCACCTACAAC	0.532																																																1	Substitution - Missense(1)	kidney(1)											125	114	118					4																	106863727		2203	4300	6503	SO:0001583	missense	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1027C>A	4.37:g.106863727C>A	ENSP00000369323:p.Pro343Thr		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.868|9.868	1.198248|1.198248	0.22037|0.22037	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	T;T;T;T;T;T;T|.	0.78816|.	-0.78;-1.13;-0.87;-1.21;-0.88;-0.88;-0.02|.	5.31|5.31	4.44|4.44	0.53790|0.53790	.|.	0.144445|.	0.64402|.	D|.	0.000005|.	T|T	0.28928|0.28928	0.0718|0.0718	N|N	0.08118|0.08118	0|0	0.27386|0.27386	N|N	0.95529|0.95529	P;P;P;P;P;P;P|.	0.49783|.	0.883;0.546;0.546;0.546;0.546;0.928;0.546|.	B;B;B;B;B;P;B|.	0.49226|.	0.399;0.202;0.202;0.202;0.202;0.603;0.202|.	T|T	0.15093|0.15093	-1.0449|-1.0449	10|5	0.18710|.	T|.	0.47|.	.|.	16.0103|16.0103	0.80399|0.80399	0.0:0.8658:0.1342:0.0|0.0:0.8658:0.1342:0.0	.|.	343;373;373;360;390;343;343|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	T|N	343;360;373;343;343;373;390|319	ENSP00000369323:P343T;ENSP00000402884:P360T;ENSP00000389252:P373T;ENSP00000422044:P343T;ENSP00000302557:P343T;ENSP00000422474:P373T;ENSP00000426146:P390T|.	ENSP00000302557:P343T|.	P|T	+|+	1|2	0|0	NPNT|NPNT	107083176|107083176	0.021000|0.021000	0.18746|0.18746	0.044000|0.044000	0.18714|0.18714	0.001000|0.001000	0.01503|0.01503	0.765000|0.765000	0.26546|0.26546	2.477000|2.477000	0.83638|0.83638	0.555000|0.555000	0.69702|0.69702	CCA|ACC		0.532	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		A	106863727	C	A	106863727	3	1	130	1	0	0	0	0	1	0	0	0	10592	507	18	4	1206	4	NPNT	4	106863727	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10	89037058	106863727	84290549	12	7847											
DCHS2	54798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	155156296	155156296	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr4:155156296C>G	ENST00000357232.4	-	25	8142	c.8143G>C	c.(8143-8145)Ggg>Cgg	p.G2715R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2715					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G2715R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGCCTTCCCCTTGATCTCCT	0.512																																																1	Substitution - Missense(1)	kidney(1)											99	80	87					4																	155156296		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8143G>C	4.37:g.155156296C>G	ENSP00000349768:p.Gly2715Arg		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873449	0.51695	.	.	ENSG00000197410	ENST00000357232	T	0.55588	0.51	5.54	2.92	0.33932	.	0.842069	0.10435	N	0.674999	T	0.36690	0.0976	N	0.17082	0.46	0.09310	N	0.999997	B	0.18461	0.028	B	0.15870	0.014	T	0.29882	-0.9997	10	0.66056	D	0.02	.	8.8245	0.35047	0.0:0.7153:0.0:0.2846	.	2715	Q6V1P9	PCD23_HUMAN	R	2715	ENSP00000349768:G2715R	ENSP00000349768:G2715R	G	-	1	0	DCHS2	155375746	0.024000	0.19004	0.000000	0.03702	0.808000	0.45660	2.542000	0.45744	0.311000	0.23014	0.460000	0.39030	GGG		0.512	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		G	155156296	C	G	155156296	3	3	130	1	0	0	0	0	1	0	0	0	4290	681	24	4	611	4	DCHS2	4	155156296	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10	48292569	155156296	35997980	13	7848											
HEATR7B2	133558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	41012760	41012760	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr5:41012760G>C	ENST00000399564.4	-	30	3510	c.3060C>G	c.(3058-3060)aaC>aaG	p.N1020K	MROH2B_ENST00000506092.2_Missense_Mutation_p.N575K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1020								p.N1020K(1)									TACAAGTGGGGTTGAGGCTCT	0.458																																																1	Substitution - Missense(1)	kidney(1)											123	120	121					5																	41012760		1925	4140	6065	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3060C>G	5.37:g.41012760G>C	ENSP00000382476:p.Asn1020Lys		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	6.857	0.527366	0.13066	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05139	3.49;3.49	6.04	2.37	0.29283	Armadillo-like helical (1);Armadillo-type fold (1);	0.392235	0.24657	N	0.036666	T	0.05273	0.0140	L	0.53249	1.67	0.09310	N	1	P	0.42692	0.787	B	0.36666	0.23	T	0.32214	-0.9915	10	0.08381	T	0.77	.	7.8296	0.29334	0.3233:0.0:0.6767:0.0	.	1020	Q7Z745	HTRB2_HUMAN	K	575;725;1020	ENSP00000441504:N575K;ENSP00000382476:N1020K	ENSP00000296803:N725K	N	-	3	2	HEATR7B2	41048517	0.862000	0.29867	0.010000	0.14722	0.046000	0.14306	0.774000	0.26675	0.163000	0.19507	-0.254000	0.11334	AAC		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		C	41012760	G	C	41012760	3	2	130	1	0	0	0	0	1	0	0	0	7037	1252	44	4	1749	4	HEATR7B2	5	41012760	Missense_Mutation	SNP	G	TCGA-B0-4706-01A-01D-1501-10		41012760	139902500	14	7849											
IQGAP2	10788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	75866461	75866461	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr5:75866461G>T	ENST00000274364.6	+	4	657	c.360G>T	c.(358-360)atG>atT	p.M120I	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	120	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.M120I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAAGAGCGATGGAGTCTATTG	0.448																																																1	Substitution - Missense(1)	kidney(1)											167	158	161					5																	75866461		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.360G>T	5.37:g.75866461G>T	ENSP00000274364:p.Met120Ile		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929442	0.73327	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.39406	1.08;1.08;1.08	5.52	5.52	0.82312	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	L	0.42245	1.32	0.80722	D	1	B	0.31026	0.304	P	0.45881	0.496	T	0.42699	-0.9436	10	0.33141	T	0.24	-33.1508	19.4372	0.94801	0.0:0.0:1.0:0.0	.	120	Q13576	IQGA2_HUMAN	I	120;93;70	ENSP00000274364:M120I;ENSP00000423672:M93I;ENSP00000421097:M70I	ENSP00000274364:M120I	M	+	3	0	IQGAP2	75902217	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.657000	0.98554	2.601000	0.87937	0.655000	0.94253	ATG		0.448	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		T	75866461	G	T	75866461	3	4	130	1	0	0	0	0	1	0	0	0	7817	1348	47	4	374	4	IQGAP2	5	75866461	Missense_Mutation	SNP	G	TCGA-B0-4706-01A-01D-1501-10	34853701	75866461	105048799	15	7850											
ATF6B	1388	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	32084267	32084267	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr6:32084267C>T	ENST00000375203.3	-	17	1904	c.1872G>A	c.(1870-1872)atG>atA	p.M624I	ATF6B_ENST00000375201.4_Missense_Mutation_p.M621I	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	624					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M624I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CATTGGGGGCCATGGCAGGCA	0.632																																																1	Substitution - Missense(1)	kidney(1)											114	92	100					6																	32084267		2203	4300	6503	SO:0001583	missense	1388				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1872G>A	6.37:g.32084267C>T	ENSP00000364349:p.Met624Ile		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898994	0.52227	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.56611	0.45;1.2	5.45	5.45	0.79879	.	0.000000	0.85682	U	0.000000	T	0.46983	0.1421	N	0.25485	0.75	0.51482	D	0.999929	D;P;D	0.58268	0.982;0.533;0.969	D;B;D	0.68943	0.961;0.186;0.914	T	0.32052	-0.9921	10	0.13853	T	0.58	-14.2841	16.7853	0.85573	0.0:1.0:0.0:0.0	.	621;624;624	Q99941-2;Q99941;Q6AZW6	.;ATF6B_HUMAN;.	I	624;621	ENSP00000364349:M624I;ENSP00000364347:M621I	ENSP00000364347:M621I	M	-	3	0	ATF6B	32192245	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.646000	0.46630	2.574000	0.86865	0.467000	0.42956	ATG		0.632	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			T	32084267	C	T	32084267	3	4	130	1	0	0	0	0	1	0	0	0	1085	594	21	2	247	2	ATF6B	6	32084267	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10		32084267	139030800	16	7851											
SNX14	57231	hgsc.bcm.edu	37	6	86303401	86303401	+	Silent	SNP	C	C	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr6:86303401C>T	ENST00000314673.3	-	1	212	c.36G>A	c.(34-36)ctG>ctA	p.L12L	RP11-321N4.5_ENST00000503906.1_Intron|SNX14_ENST00000369627.2_Silent_p.L12L|SNX14_ENST00000513865.1_Silent_p.L12L|SNX14_ENST00000346348.3_Silent_p.L12L|SNX14_ENST00000505648.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	12					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GCCGCTGCTTCAGCTTCTGCC	0.657																																																0													43	37	39					6																	86303401		2198	4298	6496	SO:0001819	synonymous_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.36G>A	6.37:g.86303401C>T			B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	ENST00000314673.3	37	CCDS5004.1																																																																																				0.657	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		T	86303401	C	T	86303401	2	4	130	1	0	0	0	0	0	0	0	1	14891	813	29	2		2	SNX14	6	86303401	Silent	SNP	C	TCGA-B0-4706-01A-01D-1501-10	54219134	86303401	84811666	17	7852											
SEMA3E	9723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	83021907	83021907	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr7:83021907C>A	ENST00000307792.3	-	14	2098	c.1631G>T	c.(1630-1632)tGc>tTc	p.C544F	SEMA3E_ENST00000427262.1_Missense_Mutation_p.C484F	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	544					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.C544F(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATACCGGGAGCAGGATATGCC	0.473																																																1	Substitution - Missense(1)	kidney(1)											113	97	102					7																	83021907		2203	4300	6503	SO:0001583	missense	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1631G>T	7.37:g.83021907C>A	ENSP00000303212:p.Cys544Phe		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527139	0.85706	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.22945	1.93;1.93	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75761	-0.3204	10	0.87932	D	0	.	19.3565	0.94416	0.0:1.0:0.0:0.0	.	544	O15041	SEM3E_HUMAN	F	544;484;544	ENSP00000303212:C544F;ENSP00000405052:C484F	ENSP00000303212:C544F	C	-	2	0	SEMA3E	82859843	1.000000	0.71417	0.987000	0.45799	0.933000	0.57130	7.750000	0.85110	2.652000	0.90054	0.585000	0.79938	TGC		0.473	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		A	83021907	C	A	83021907	3	1	130	1	0	0	0	0	1	0	0	0	14034	710	25	4	712	4	SEMA3E	7	83021907	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10		83021907	76116756	18	7853											
CTTNBP2	83992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117417736	117417736	+	Silent	SNP	A	A	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr7:117417736A>T	ENST00000160373.3	-	8	2698	c.2607T>A	c.(2605-2607)gcT>gcA	p.A869A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	869					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.A869A(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AATTTCCATGAGCTGGTATTC	0.468																																																1	Substitution - coding silent(1)	kidney(1)											74	75	74					7																	117417736		2203	4300	6503	SO:0001819	synonymous_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2607T>A	7.37:g.117417736A>T			O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	A	0.343	-0.949096	0.02304	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.46	0.154	0.14901	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22977	-1.0201	4	.	.	.	2.2837	2.0373	0.03542	0.4548:0.126:0.2968:0.1224	.	.	.	.	T	357	.	.	S	-	1	0	CTTNBP2	117204972	0.000000	0.05858	0.017000	0.16124	0.027000	0.11550	0.067000	0.14510	0.137000	0.18759	0.528000	0.53228	TCA		0.468	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		T	117417736	A	T	117417736	2	4	130	1	0	0	0	0	0	0	0	1	4047	291	11	5		5	CTTNBP2	7	117417736	Silent	SNP	A	TCGA-B0-4706-01A-01D-1501-10	34395829	117417736	41720927	19	7854											
TYRP1	7306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	12698513	12698513	+	Silent	SNP	C	C	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr9:12698513C>T	ENST00000388918.5	+	4	900	c.771C>T	c.(769-771)gtC>gtT	p.V257V	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Intron|TYRP1_ENST00000381136.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	257					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V257V(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GGAAAAATGTCTGTGATATCT	0.433									Oculocutaneous Albinism																																							1	Substitution - coding silent(1)	kidney(1)											120	115	117					9																	12698513		2203	4300	6503	SO:0001819	synonymous_variant	7306	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.771C>T	9.37:g.12698513C>T			P78468|P78469|Q13721|Q15679	Silent	SNP	ENST00000388918.5	37	CCDS34990.1																																																																																				0.433	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		T	12698513	C	T	12698513	2	4	130	1	0	0	0	0	0	0	0	1	16821	900	32	2		2	TYRP1	9	12698513	Silent	SNP	C	TCGA-B0-4706-01A-01D-1501-10		12698513	128514918	20	7855											
LCN12	286256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139849846	139849846	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr9:139849846T>C	ENST00000371633.3	+	6	574	c.574T>C	c.(574-576)Tgt>Cgt	p.C192R	LCN12_ENST00000466277.1_3'UTR	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	192					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.C192R(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGCCAGCGTCTGTTGAAGGAT	0.632																																																1	Substitution - Missense(1)	kidney(1)											53	61	58					9																	139849846		2082	4223	6305	SO:0001583	missense	286256			BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"Lipocalins"	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.574T>C	9.37:g.139849846T>C	ENSP00000360696:p.Cys192Arg		A2AMJ7	Missense_Mutation	SNP	ENST00000371633.3	37	CCDS7018.2	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574711	0.28092	.	.	ENSG00000184925	ENST00000371633	T	0.50277	0.75	1.85	0.656	0.17844	.	.	.	.	.	T	0.32704	0.0838	L	0.34521	1.04	0.22127	N	0.999342	B	0.25719	0.132	B	0.21546	0.035	T	0.29027	-1.0025	9	0.87932	D	0	.	5.272	0.15630	0.0:0.1676:0.0:0.8324	.	192	Q6JVE5	LCN12_HUMAN	R	192	ENSP00000360696:C192R	ENSP00000360696:C192R	C	+	1	0	LCN12	138969667	0.107000	0.21998	0.015000	0.15790	0.028000	0.11728	0.293000	0.19029	0.186000	0.20125	0.391000	0.25812	TGT		0.632	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536		C	139849846	T	C	139849846	3	2	130	1	0	0	0	0	1	0	0	0	8684	1580	55	3	596	3	LCN12	9	139849846	Missense_Mutation	SNP	T	TCGA-B0-4706-01A-01D-1501-10	127151333	139849846	1363585	21	7856											
C9orf173	25920	broad.mit.edu	37	9	140147247	140147247	+	5'Flank	SNP	G	G	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr9:140147247G>A	ENST00000343053.4	+	0	0				C9orf173_ENST00000388931.3_Missense_Mutation_p.G209D|C9orf173_ENST00000412566.1_Missense_Mutation_p.G209D	NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B						gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G209D(1)									AGGGGGCTGGGCCTCAGGGTG	0.662																																																1	Substitution - Missense(1)	kidney(1)											11	12	12					9																	140147247		1875	4050	5925	SO:0001631	upstream_gene_variant	441476			AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778		9.37:g.140147247G>A	Exception_encountered		A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	6.920	0.539476	0.13250	.	.	ENSG00000197768	ENST00000388931;ENST00000412566	T;T	0.49139	0.89;0.79	3.07	2.16	0.27623	.	3.081050	0.01996	N	0.045883	T	0.48554	0.1506	L	0.43152	1.355	0.09310	N	1	D;P	0.58268	0.982;0.95	P;P	0.51866	0.682;0.469	T	0.37033	-0.9723	10	0.11485	T	0.65	.	6.1948	0.20544	0.1469:0.0:0.8531:0.0	.	209;209	Q8N7X2-2;Q8N7X2-4	.;.	D	209	ENSP00000373583:G209D;ENSP00000391218:G209D	ENSP00000373583:G209D	G	+	2	0	C9orf173	139267068	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.241000	0.18065	0.628000	0.30357	0.561000	0.74099	GGC		0.662	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		A	140147247	G	A	140147247	1	1	130	0	1	0	0	0	0	0	0	0	2474	1203	42	2		2	C9orf173	9	140147247	5'Flank	SNP	G	TCGA-B0-4706-01A-01D-1501-10	297401	140147247	1066184	22	7857											
KIAA1279	26128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70748679	70748679	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr10:70748679G>A	ENST00000361983.4	+	1	193	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	31					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)	p.E31K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TCCGGAGAAGGAACCATACAA	0.622											OREG0020215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											66	74	71					10																	70748679		2203	4300	6503	SO:0001583	missense	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.91G>A	10.37:g.70748679G>A	ENSP00000354848:p.Glu31Lys	1124	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326873	0.95708	.	.	ENSG00000198954	ENST00000361983	T	0.53640	0.61	5.88	4.97	0.65823	.	0.259655	0.44285	D	0.000469	T	0.44307	0.1287	M	0.63843	1.955	0.58432	D	0.999991	P	0.43094	0.799	B	0.35931	0.214	T	0.50021	-0.8876	10	0.46703	T	0.11	-12.8144	15.4334	0.75121	0.0675:0.0:0.9325:0.0	.	31	Q96EK5	KBP_HUMAN	K	31	ENSP00000354848:E31K	ENSP00000354848:E31K	E	+	1	0	KIAA1279	70418685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.220000	0.72237	2.779000	0.95612	0.650000	0.86243	GAA		0.622	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		A	70748679	G	A	70748679	3	1	130	1	0	0	0	0	1	0	0	0	8223	1175	41	2	93	2	KIAA1279	10	70748679	Missense_Mutation	SNP	G	TCGA-B0-4706-01A-01D-1501-10		70748679	64786068	23	7858											
AIFM2	84883	broad.mit.edu	37	10	71874016	71874016	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr10:71874016C>A	ENST00000307864.1	-	9	1253	c.1040G>T	c.(1039-1041)gGc>gTc	p.G347V	AIFM2_ENST00000482166.1_5'Flank|AIFM2_ENST00000373248.1_Missense_Mutation_p.G347V	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	347					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.G347V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CATGAGCCGGCCCACATAGAA	0.572																																																1	Substitution - Missense(1)	kidney(1)											67	63	64					10																	71874016		2203	4300	6503	SO:0001583	missense	84883			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.1040G>T	10.37:g.71874016C>A	ENSP00000312370:p.Gly347Val		B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247856	0.80024	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.35236	1.32;1.32	5.59	5.59	0.84812	.	0.317119	0.35805	N	0.002978	T	0.54334	0.1852	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50074	-0.8870	10	0.48119	T	0.1	-12.1798	17.3794	0.87400	0.0:1.0:0.0:0.0	.	347	Q9BRQ8	AIFM2_HUMAN	V	347;347;310	ENSP00000362345:G347V;ENSP00000312370:G347V	ENSP00000312370:G347V	G	-	2	0	AIFM2	71544022	1.000000	0.71417	0.992000	0.48379	0.958000	0.62258	5.496000	0.66918	2.643000	0.89663	0.650000	0.86243	GGC		0.572	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		A	71874016	C	A	71874016	3	1	130	1	0	0	0	0	1	0	0	0	427	739	26	4	85	4	AIFM2	10	71874016	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10	1125337	71874016	63660731	24	7859											
C10orf27	219793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	72541707	72541707	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr10:72541707T>C	ENST00000299290.1	-	4	516	c.127A>G	c.(127-129)Atc>Gtc	p.I43V	TBATA_ENST00000545575.1_Missense_Mutation_p.I33V|TBATA_ENST00000456372.2_Missense_Mutation_p.I43V	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	43					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.I43V(1)									ATCCCTGGGATCACCAGTTCT	0.592																																																1	Substitution - Missense(1)	kidney(1)											121	120	120					10																	72541707		2203	4300	6503	SO:0001583	missense	0			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"chromosome 10 open reading frame 27"	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.127A>G	10.37:g.72541707T>C	ENSP00000299290:p.Ile43Val		A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	T	4.919	0.170766	0.09391	.	.	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	T	0.38240	1.15	4.86	-0.297	0.12820	.	0.780907	0.11588	N	0.549078	T	0.36771	0.0979	L	0.28400	0.85	0.09310	N	1	P;P;B;B;B;B	0.51791	0.948;0.644;0.097;0.037;0.1;0.1	D;B;B;B;B;B	0.67103	0.949;0.116;0.021;0.028;0.047;0.028	T	0.26573	-1.0099	10	0.07482	T	0.82	-4.9109	7.6266	0.28216	0.0:0.4639:0.0:0.5361	.	32;32;43;43;33;43	B7Z8D7;B7Z8G0;B7ZMN4;B7ZMN5;B7Z8I8;Q96M53	.;.;.;.;.;SPATL_HUMAN	V	43;30;43;33	ENSP00000299290:I43V	ENSP00000299290:I43V	I	-	1	0	C10orf27	72211713	0.241000	0.23857	0.045000	0.18777	0.568000	0.35870	-0.028000	0.12350	-0.123000	0.11745	0.482000	0.46254	ATC		0.592	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		C	72541707	T	C	72541707	3	2	130	1	0	0	0	0	1	0	0	0	1602	1435	50	3	960	3	C10orf27	10	72541707	Missense_Mutation	SNP	T	TCGA-B0-4706-01A-01D-1501-10	667691	72541707	62993040	25	7860											
GBF1	8729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	104111129	104111129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr10:104111129C>T	ENST00000369983.3	+	5	672	c.412C>T	c.(412-414)Cag>Tag	p.Q138*		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	138					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.Q138*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GAAAATCCTTCAGGTAAGCGA	0.517																																																1	Substitution - Nonsense(1)	kidney(1)											87	75	79					10																	104111129		2203	4300	6503	SO:0001587	stop_gained	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.412C>T	10.37:g.104111129C>T	ENSP00000359000:p.Gln138*		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Nonsense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	37	6.398571	0.97533	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-13.8328	20.4561	0.99145	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000359000:Q138X	Q	+	1	0	GBF1	104101119	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.624000	0.83124	2.847000	0.97988	0.591000	0.81541	CAG		0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			T	104111129	C	T	104111129	4	4	130	1	0	0	0	0	0	1	0	0	6273	827	29	2	426	2	GBF1	10	104111129	Nonsense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10	31569422	104111129	31423618	26	7861											
MKI67	4288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129911780	129911780	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr10:129911780G>C	ENST00000368654.3	-	8	1942	c.1567C>G	c.(1567-1569)Cct>Gct	p.P523A	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.P163A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	523					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P523A(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCGTATTAGGAGGCAAGTTT	0.448																																																1	Substitution - Missense(1)	kidney(1)											171	156	161					10																	129911780		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1567C>G	10.37:g.129911780G>C	ENSP00000357643:p.Pro523Ala		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734688	0.69189	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.03413	3.94;4.56	4.84	3.94	0.45596	.	0.067674	0.64402	D	0.000013	T	0.09686	0.0238	L	0.38175	1.15	0.43988	D	0.996688	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.71870	0.975;0.975;0.961	T	0.14671	-1.0464	10	0.42905	T	0.14	.	11.3735	0.49713	0.083:0.0:0.917:0.0	.	523;163;523	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	523;163;523;98	ENSP00000357643:P523A;ENSP00000357642:P163A	ENSP00000357641:P98A	P	-	1	0	MKI67	129801770	1.000000	0.71417	0.995000	0.50966	0.535000	0.34838	6.445000	0.73456	1.274000	0.44362	0.655000	0.94253	CCT		0.448	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		C	129911780	G	C	129911780	3	2	130	1	0	0	0	0	1	0	0	0	9600	1174	41	4	8235	4	MKI67	10	129911780	Missense_Mutation	SNP	G	TCGA-B0-4706-01A-01D-1501-10	25800651	129911780	5622967	27	7862											
NUMA1	4926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	71735322	71735322	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr11:71735322T>C	ENST00000393695.3	-	5	537	c.206A>G	c.(205-207)cAg>cGg	p.Q69R	NUMA1_ENST00000351960.6_Missense_Mutation_p.Q69R|NUMA1_ENST00000358965.6_Missense_Mutation_p.Q69R	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.Q69R(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GTGCTTACTCTGCAGAAAACT	0.483			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	1	Substitution - Missense(1)	kidney(1)											103	93	96					11																	71735322		2200	4293	6493	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.206A>G	11.37:g.71735322T>C	ENSP00000377298:p.Gln69Arg			Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237936	0.58886	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947;ENST00000535087;ENST00000368959;ENST00000541719;ENST00000366394;ENST00000541641	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;1.0;1.0;1.0;1.0	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	T	0.59514	0.2199	M	0.64997	1.995	0.38456	D	0.947094	D;D;D;D;D;D	0.67145	0.996;0.981;0.981;0.969;0.992;0.969	D;D;D;P;D;P	0.75484	0.986;0.969;0.969;0.766;0.979;0.654	T	0.62737	-0.6791	10	0.44086	T	0.13	.	12.5396	0.56161	0.0:0.0:0.0:1.0	.	69;69;69;69;69;69	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	R	69	ENSP00000260051:Q69R;ENSP00000351851:Q69R;ENSP00000377298:Q69R;ENSP00000444880:Q69R;ENSP00000442936:Q69R;ENSP00000442761:Q69R;ENSP00000439759:Q69R;ENSP00000438821:Q69R;ENSP00000438589:Q69R;ENSP00000439092:Q69R;ENSP00000444175:Q69R;ENSP00000439576:Q69R;ENSP00000357955:Q69R;ENSP00000438331:Q69R;ENSP00000438318:Q69R;ENSP00000441598:Q69R	ENSP00000260051:Q69R	Q	-	2	0	NUMA1	71412970	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.404000	0.59735	2.138000	0.66242	0.533000	0.62120	CAG		0.483	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			C	71735322	T	C	71735322	3	2	130	1	0	0	0	0	1	0	0	0	10752	1580	55	3	6233	3	NUMA1	11	71735322	Missense_Mutation	SNP	T	TCGA-B0-4706-01A-01D-1501-10		71735322	63271194	28	7863											
PKP2	5318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32975511	32975511	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr12:32975511C>T	ENST00000070846.6	-	9	1885	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	PKP2_ENST00000340811.4_Missense_Mutation_p.E577K	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	621					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.E621K(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTGGGAGCTCTGCCTCCAGC	0.413																																																1	Substitution - Missense(1)	kidney(1)											96	94	95					12																	32975511		2203	4300	6503	SO:0001583	missense	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1861G>A	12.37:g.32975511C>T	ENSP00000070846:p.Glu621Lys		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318096	0.81469	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.83914	-1.78;-1.78	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.057793	0.64402	D	0.000002	D	0.88526	0.6460	M	0.84683	2.71	0.49130	D	0.99975	P;P;P	0.50528	0.867;0.791;0.936	P;B;P	0.49683	0.616;0.411;0.619	D	0.90883	0.4755	10	0.87932	D	0	0.2032	16.6153	0.84909	0.0:1.0:0.0:0.0	.	577;577;621	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	K	577;621;621	ENSP00000342800:E577K;ENSP00000070846:E621K	ENSP00000070846:E621K	E	-	1	0	PKP2	32866778	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.669000	0.61575	2.328000	0.79073	0.563000	0.77884	GAG		0.413	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		T	32975511	C	T	32975511	3	4	130	1	0	0	0	0	1	0	0	0	11987	922	32	2	808	2	PKP2	12	32975511	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10		32975511	100876384	29	7864											
HOXC8	3224	hgsc.bcm.edu;ucsc.edu	37	12	54403321	54403328	+	Frame_Shift_Del	DEL	GCCTCCAA	GCCTCCAA	-			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	GCCTCCAA	GCCTCCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr12:54403321_54403328delGCCTCCAA	ENST00000040584.4	+	1	490_497	c.253_260delGCCTCCAA	c.(253-261)gcctccaaafs	p.ASK85fs	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	85					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						CCACGGAGACGCCTCCAAATTCTATGGC	0.587																																					GBM(197;701 2226 7002 18822 41696)											0																																										SO:0001589	frameshift_variant	3224			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"Homeoboxes / ANTP class : HOXL subclass"	5129	protein-coding gene	gene with protein product		142970	"homeo box C8"	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.253_260delGCCTCCAA	12.37:g.54403321_54403328delGCCTCCAA	ENSP00000040584:p.Ala85fs		A8K4J4|O15221|O15362	Frame_Shift_Del	DEL	ENST00000040584.4	37	CCDS8870.1																																																																																				0.587	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2			-	54403328	GCCTCCAA	-	54403321	7	5	130	1	0	1	0	1	0	0	0	0	7318	1087	38	0	255	0	HOXC8	12	54403321	Frame_Shift_Del	DEL	GCCTCCAA	TCGA-B0-4706-01A-01D-1501-10	21427810	54403321	79448574	30	7865											
LRP1	4035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57554852	57554852	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr12:57554852T>C	ENST00000243077.3	+	13	2622	c.2156T>C	c.(2155-2157)tTc>tCc	p.F719S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	719					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.F719S(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGGATGCCTTCTACGACCGC	0.582																																																1	Substitution - Missense(1)	kidney(1)											136	130	132					12																	57554852		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2156T>C	12.37:g.57554852T>C	ENSP00000243077:p.Phe719Ser		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562194	0.45590	.	.	ENSG00000123384	ENST00000243077	T	0.25579	1.79	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.079738	0.52532	D	0.000067	T	0.14313	0.0346	N	0.17723	0.515	0.80722	D	1	P	0.37466	0.596	B	0.29785	0.107	T	0.11916	-1.0568	10	0.17832	T	0.49	.	13.5753	0.61870	0.0:0.0:0.0:1.0	.	719	Q07954	LRP1_HUMAN	S	719	ENSP00000243077:F719S	ENSP00000243077:F719S	F	+	2	0	LRP1	55841119	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.094000	0.41719	2.371000	0.80710	0.533000	0.62120	TTC		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		C	57554852	T	C	57554852	3	2	130	1	0	0	0	0	1	0	0	0	8953	1783	62	3	2206	3	LRP1	12	57554852	Missense_Mutation	SNP	T	TCGA-B0-4706-01A-01D-1501-10	3151531	57554852	76297043	31	7866											
DGKH	160851	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42773767	42773767	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr13:42773767C>T	ENST00000337343.4	+	19	2372	c.2351C>T	c.(2350-2352)tCa>tTa	p.S784L	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.S539L|DGKH_ENST00000379274.2_Missense_Mutation_p.S648L|DGKH_ENST00000536612.1_Missense_Mutation_p.S648L|DGKH_ENST00000261491.5_Missense_Mutation_p.S784L|DGKH_ENST00000540693.1_Missense_Mutation_p.S784L	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	784					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.S784L(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCAAAAATTTCATTAGAATTT	0.284																																																1	Substitution - Missense(1)	kidney(1)											26	29	28					13																	42773767		2195	4274	6469	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2351C>T	13.37:g.42773767C>T	ENSP00000337572:p.Ser784Leu		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057531	0.93846	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.79	5.79	0.91817	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.57315	0.2045	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.995;0.998	D;D;D;D	0.78314	0.991;0.962;0.961;0.986	T	0.57499	-0.7801	10	0.87932	D	0	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	539;648;784;784	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	L	784;784;784;648;648;539	ENSP00000440823:S784L;ENSP00000337572:S784L;ENSP00000261491:S784L;ENSP00000368576:S648L;ENSP00000445114:S648L;ENSP00000441308:S539L	ENSP00000261491:S784L	S	+	2	0	DGKH	41671767	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.703000	0.84585	2.727000	0.93392	0.591000	0.81541	TCA		0.284	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		T	42773767	C	T	42773767	3	4	130	1	0	0	0	0	1	0	0	0	4472	838	29	2	2425	2	DGKH	13	42773767	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10		42773767	72396111	32	7867											
SETD3	84193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	99932102	99932102	+	Missense_Mutation	SNP	G	G	A	rs186182372		TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr14:99932102G>A	ENST00000331768.5	-	2	200	c.41C>T	c.(40-42)aCt>aTt	p.T14I	SETD3_ENST00000436070.2_Missense_Mutation_p.T14I|SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000329331.3_Missense_Mutation_p.T14I	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	14					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.T14I(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TGTAGCACCAGTGCCAGATTT	0.428																																																1	Substitution - Missense(1)	kidney(1)											173	159	164					14																	99932102		2203	4300	6503	SO:0001583	missense	84193			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.41C>T	14.37:g.99932102G>A	ENSP00000327436:p.Thr14Ile		A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022199	0.54683	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	T;T;T	0.24350	2.61;1.86;1.87	5.8	3.97	0.46021	.	0.270733	0.34932	N	0.003569	T	0.21841	0.0526	L	0.54323	1.7	0.38535	D	0.949062	B;B;P	0.44195	0.165;0.026;0.828	B;B;B	0.37650	0.102;0.057;0.255	T	0.06570	-1.0819	10	0.26408	T	0.33	-1.9403	10.2928	0.43605	0.067:0.2541:0.6789:0.0	.	14;14;14	Q6NXR6;A0PJU3;Q86TU7	.;.;SETD3_HUMAN	I	14	ENSP00000327436:T14I;ENSP00000327910:T14I;ENSP00000408602:T14I	ENSP00000327910:T14I	T	-	2	0	SETD3	99001855	1.000000	0.71417	0.987000	0.45799	0.980000	0.70556	3.634000	0.54302	0.790000	0.33803	-0.126000	0.14955	ACT		0.428	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		A	99932102	G	A	99932102	3	1	130	1	0	0	0	0	1	0	0	0	14138	1029	36	2	1837	2	SETD3	14	99932102	Missense_Mutation	SNP	G	TCGA-B0-4706-01A-01D-1501-10		99932102	7417438	33	7868											
ZSCAN29	146050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43653850	43653850	+	Silent	SNP	A	A	G			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr15:43653850A>G	ENST00000396976.2	-	5	2114	c.1980T>C	c.(1978-1980)ttT>ttC	p.F660F	ZSCAN29_ENST00000396972.1_Silent_p.F271F|ZSCAN29_ENST00000568898.1_Silent_p.F270F|ZSCAN29_ENST00000562072.1_3'UTR	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	660					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.F660F(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGTTTGGACCAAAGCTTTTGC	0.453																																																1	Substitution - coding silent(1)	kidney(1)											146	144	145					15																	43653850		2201	4299	6500	SO:0001819	synonymous_variant	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1980T>C	15.37:g.43653850A>G			B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	ENST00000396976.2	37	CCDS10095.2																																																																																				0.453	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		G	43653850	A	G	43653850	2	3	130	1	0	0	0	0	0	0	0	1	18241	127	5	3		3	ZSCAN29	15	43653850	Silent	SNP	A	TCGA-B0-4706-01A-01D-1501-10		43653850	58877542	34	7869											
FBXO22	26263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	76222396	76222396	+	Intron	SNP	T	T	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr15:76222396T>A	ENST00000308275.3	+	6	899				FBXO22_ENST00000453211.2_Missense_Mutation_p.V267D|FBXO22_ENST00000540507.1_Intron	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22						cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.V267D(1)|p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAAAAGTATGTCTTGTGTGCT	0.383																																																2	Substitution - Missense(1)|Unknown(1)	kidney(2)											142	133	136					15																	76222396		2197	4294	6491	SO:0001627	intron_variant	26263			AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.794+6T>A	15.37:g.76222396T>A			Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650697	0.47362	.	.	ENSG00000167196	ENST00000453211	.	.	.	4.56	2.28	0.28536	.	.	.	.	.	T	0.42404	0.1201	.	.	.	0.80722	D	1	P	0.39883	0.693	B	0.41332	0.354	T	0.10989	-1.0606	6	.	.	.	.	6.832	0.23915	0.0:0.1665:0.0:0.8335	.	267	Q8NEZ5-3	.	D	267	.	.	V	+	2	0	FBXO22	74009451	0.988000	0.35896	0.011000	0.14972	0.797000	0.45037	2.020000	0.41010	0.311000	0.23014	0.460000	0.39030	GTC		0.383	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		A	76222396	T	A	76222396	1	1	130	0	1	0	0	0	0	0	0	0	5736	1667	58	5		5	FBXO22	15	76222396	Intron	SNP	T	TCGA-B0-4706-01A-01D-1501-10	32568546	76222396	26308996	35	7870											
SCAPER	49855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	77059317	77059317	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr15:77059317A>G	ENST00000563290.1	-	11	1456	c.1361T>C	c.(1360-1362)aTt>aCt	p.I454T	SCAPER_ENST00000324767.7_Missense_Mutation_p.I454T|SCAPER_ENST00000538941.2_Missense_Mutation_p.I208T			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	454	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.I454T(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTCAGCTTCAATTTCTCTAGT	0.333																																																1	Substitution - Missense(1)	kidney(1)											170	152	158					15																	77059317		1826	4074	5900	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1361T>C	15.37:g.77059317A>G	ENSP00000454973:p.Ile454Thr		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120113	0.77323	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.35048	1.36;1.33	5.55	5.55	0.83447	.	0.187851	0.56097	D	0.000034	T	0.47395	0.1443	N	0.24115	0.695	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.51434	-0.8706	10	0.66056	D	0.02	.	15.698	0.77515	1.0:0.0:0.0:0.0	.	454;475;208	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	T	454;208;476	ENSP00000326924:I454T;ENSP00000442190:I208T	ENSP00000303560:I476T	I	-	2	0	SCAPER	74846372	1.000000	0.71417	0.996000	0.52242	0.723000	0.41478	8.759000	0.91667	2.116000	0.64780	0.254000	0.18369	ATT		0.333	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		G	77059317	A	G	77059317	3	3	130	1	0	0	0	0	1	0	0	0	13884	101	4	3	2929	3	SCAPER	15	77059317	Missense_Mutation	SNP	A	TCGA-B0-4706-01A-01D-1501-10	836921	77059317	25472075	36	7871											
MAN2A2	4122	broad.mit.edu	37	15	91454153	91454153	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr15:91454153A>C	ENST00000559717.1	+	12	2296	c.1837A>C	c.(1837-1839)Acc>Ccc	p.T613P	MAN2A2_ENST00000360468.3_Missense_Mutation_p.T613P|MAN2A2_ENST00000431652.2_Missense_Mutation_p.T121P|MAN2A2_ENST00000430376.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	613					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.T613P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGACAAGGAGACCTACCACTT	0.607																																																1	Substitution - Missense(1)	kidney(1)											62	60	60					15																	91454153		2198	4298	6496	SO:0001583	missense	4122			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1837A>C	15.37:g.91454153A>C	ENSP00000452948:p.Thr613Pro		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228688	0.58777	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	T;T	0.74947	-0.89;-0.89	4.96	1.32	0.21799	Glycosyl hydrolase, family 13, all-beta (1);	0.364494	0.34362	N	0.004034	T	0.71508	0.3348	L	0.58101	1.795	0.33169	D	0.548082	P;P;P;P	0.51147	0.819;0.904;0.942;0.612	P;P;P;B	0.49085	0.514;0.514;0.6;0.284	T	0.73347	-0.4011	10	0.30078	T	0.28	-14.3743	8.8555	0.35225	0.7831:0.0:0.2169:0.0	.	121;241;613;613	B4DEU9;B4DIK4;P49641-1;P49641	.;.;.;MA2A2_HUMAN	P	613;121	ENSP00000353655:T613P;ENSP00000388221:T121P	ENSP00000353655:T613P	T	+	1	0	MAN2A2	89255157	0.000000	0.05858	0.828000	0.32881	0.954000	0.61252	-0.192000	0.09587	0.040000	0.15660	0.254000	0.18369	ACC		0.607	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		C	91454153	A	C	91454153	3	2	130	1	0	0	0	0	1	0	0	0	9217	275	10	5	1879	5	MAN2A2	15	91454153	Missense_Mutation	SNP	A	TCGA-B0-4706-01A-01D-1501-10	14394836	91454153	11077239	37	7872											
FZR1	51343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3533336	3533336	+	Silent	SNP	G	G	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr19:3533336G>A	ENST00000395095.3	+	11	1287	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	FZR1_ENST00000313639.8_Silent_p.K340K|FZR1_ENST00000441788.2_Silent_p.K429K	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	429					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.K429K(1)		endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTCTGGAAGTACCCCTCCC	0.652																																																1	Substitution - coding silent(1)	kidney(1)											138	96	110					19																	3533336		2203	4300	6503	SO:0001819	synonymous_variant	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1287G>A	19.37:g.3533336G>A			O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Silent	SNP	ENST00000395095.3	37	CCDS45916.1																																																																																				0.652	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		A	3533336	G	A	3533336	2	1	130	1	0	0	0	0	0	0	0	1	6140	1020	36	2		2	FZR1	19	3533336	Silent	SNP	G	TCGA-B0-4706-01A-01D-1501-10		3533336	55595647	38	7873											
ALKBH7	84266	broad.mit.edu	37	19	6374925	6374925	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr19:6374925C>A	ENST00000245812.3	+	4	995	c.607C>A	c.(607-609)Cgc>Agc	p.R203S	ALKBH7_ENST00000596657.1_Missense_Mutation_p.R61S|ALKBH7_ENST00000599849.1_Missense_Mutation_p.R142S	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	203					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R203S(1)		breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CGTGATCTGCCGCTCCCTCCC	0.607																																																1	Substitution - Missense(1)	kidney(1)											40	43	42					19																	6374925		2203	4300	6503	SO:0001583	missense	84266			AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"Alkylation repair homologs"	21306	protein-coding gene	gene with protein product		613305	"spermatogenesis associated 11"	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.607C>A	19.37:g.6374925C>A	ENSP00000245812:p.Arg203Ser		B2R4U9|Q53FF3	Missense_Mutation	SNP	ENST00000245812.3	37	CCDS12163.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237760	0.95240	.	.	ENSG00000125652	ENST00000245812	T	0.55413	0.52	4.63	4.63	0.57726	.	0.060003	0.64402	D	0.000002	T	0.80237	0.4586	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86136	0.1578	10	0.87932	D	0	-12.177	16.7751	0.85549	0.0:1.0:0.0:0.0	.	203	Q9BT30	ALKB7_HUMAN	S	203	ENSP00000245812:R203S	ENSP00000245812:R203S	R	+	1	0	ALKBH7	6325925	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.637000	0.46553	2.577000	0.86979	0.455000	0.32223	CGC		0.607	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453036.1	NM_032306		A	6374925	C	A	6374925	3	1	130	1	0	0	0	0	1	0	0	0	532	652	23	4	621	4	ALKBH7	19	6374925	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10	2841589	6374925	52754058	39	7874											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9089041	9089041	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr19:9089041C>A	ENST00000397910.4	-	1	2977	c.2774G>T	c.(2773-2775)aGt>aTt	p.S925I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	925	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S925I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTGAGGTACTGCTCGTAGC	0.493																																																2	Substitution - Missense(2)	kidney(2)											98	99	99					19																	9089041		1972	4171	6143	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2774G>T	19.37:g.9089041C>A	ENSP00000381008:p.Ser925Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.888	-0.230305	0.05983	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.55	0.485	0.16830	.	.	.	.	.	T	0.02727	0.0082	N	0.14661	0.345	.	.	.	D	0.62365	0.991	P	0.50231	0.635	T	0.44937	-0.9295	8	0.87932	D	0	.	3.902	0.09166	0.0:0.7622:0.0:0.2378	.	925	B5ME49	.	I	925	ENSP00000381008:S925I	ENSP00000381008:S925I	S	-	2	0	MUC16	8950041	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.498000	0.02287	0.223000	0.20920	0.205000	0.17691	AGT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9089041	C	A	9089041	3	1	130	1	0	0	0	0	1	0	0	0	9975	565	20	4	41085	4	MUC16	19	9089041	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10	2714116	9089041	50039942	40	7875											
DKKL1	27120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49869088	49869088	+	Missense_Mutation	SNP	G	G	T	rs527385357		TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr19:49869088G>T	ENST00000221498.2	+	4	768	c.363G>T	c.(361-363)gaG>gaT	p.E121D	DKKL1_ENST00000594268.1_Intron|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	121					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)	p.E121D(1)		large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		TGATCTCCGAGAATGTGGTGG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17716	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											107	94	99					19																	49869088		2203	4300	6503	SO:0001583	missense	27120			AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.363G>T	19.37:g.49869088G>T	ENSP00000221498:p.Glu121Asp			Missense_Mutation	SNP	ENST00000221498.2	37	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365584	0.61513	.	.	ENSG00000104901	ENST00000221498	T	0.29397	1.57	4.5	3.46	0.39613	.	0.422207	0.20367	N	0.093722	T	0.35364	0.0929	M	0.72894	2.215	0.30885	N	0.73097	P	0.44139	0.827	B	0.44133	0.442	T	0.47235	-0.9133	10	0.72032	D	0.01	-22.7849	8.6097	0.33795	0.1048:0.0:0.8952:0.0	.	121	Q9UK85	DKKL1_HUMAN	D	121	ENSP00000221498:E121D	ENSP00000221498:E121D	E	+	3	2	DKKL1	54560900	1.000000	0.71417	0.981000	0.43875	0.668000	0.39293	2.036000	0.41165	1.281000	0.44480	0.561000	0.74099	GAG		0.557	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		T	49869088	G	T	49869088	3	4	130	1	0	0	0	0	1	0	0	0	4550	933	33	4	377	4	DKKL1	19	49869088	Missense_Mutation	SNP	G	TCGA-B0-4706-01A-01D-1501-10	40780047	49869088	9259895	41	7876											
KLK10	5655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51518692	51518692	+	Missense_Mutation	SNP	C	C	T	rs142960865		TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr19:51518692C>T	ENST00000309958.3	-	5	877	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	KLK10_ENST00000391805.1_Missense_Mutation_p.R220Q|KLK10_ENST00000358789.3_Missense_Mutation_p.R220Q|CTC-518B2.12_ENST00000596286.1_RNA	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	220	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R220Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GTCCTGGCCCCGGTCCAGTCC	0.587																																																1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	172	158	163		659,659,659	-0.5	0	19	dbSNP_134	163	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	KLK10	NM_001077500.1,NM_002776.4,NM_145888.2	43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	220/277,220/277,220/277	51518692	2,13004	2203	4300	6503	SO:0001583	missense	5655			AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"Kallikreins"	6358	protein-coding gene	gene with protein product		602673	"kallikrein 10"	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.659G>A	19.37:g.51518692C>T	ENSP00000311746:p.Arg220Gln		A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	CCDS12817.1	.	.	.	.	.	.	.	.	.	.	c	6.841	0.524481	0.13066	0.0	2.33E-4	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.88431	-2.38;-2.38;-2.38	4.45	-0.516	0.11950	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.989793	0.08180	N	0.985681	T	0.78298	0.4261	N	0.14661	0.345	0.20703	N	0.999863	B	0.06786	0.001	B	0.04013	0.001	T	0.62656	-0.6808	10	0.37606	T	0.19	.	8.6976	0.34305	0.0:0.5362:0.0:0.4638	.	220	O43240	KLK10_HUMAN	Q	220	ENSP00000375681:R220Q;ENSP00000311746:R220Q;ENSP00000351640:R220Q	ENSP00000311746:R220Q	R	-	2	0	KLK10	56210504	0.019000	0.18553	0.010000	0.14722	0.871000	0.50021	0.842000	0.27627	-0.074000	0.12820	-0.459000	0.05422	CGG		0.587	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776		T	51518692	C	T	51518692	3	4	130	1	0	0	0	0	1	0	0	0	8400	652	23	1	179	1	KLK10	19	51518692	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10	1649604	51518692	7610291	42	7877											
GPCPD1	56261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	5559074	5559074	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr20:5559074T>C	ENST00000379019.4	-	8	869	c.657A>G	c.(655-657)atA>atG	p.I219M	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	219					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)	p.I219M(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						CCATCGTCTGTATGCTGTACT	0.448																																																1	Substitution - Missense(1)	kidney(1)											119	109	112					20																	5559074		2203	4300	6503	SO:0001583	missense	56261				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.657A>G	20.37:g.5559074T>C	ENSP00000368305:p.Ile219Met		D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452653	0.63290	.	.	ENSG00000125772	ENST00000379019	T	0.47869	0.83	5.26	0.188	0.15114	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	L	0.29908	0.895	0.51233	D	0.999917	D	0.76494	0.999	D	0.66196	0.942	T	0.40098	-0.9581	10	0.62326	D	0.03	-21.8395	7.1072	0.25370	0.2286:0.0:0.2663:0.5051	.	219	Q9NPB8	GPCP1_HUMAN	M	219	ENSP00000368305:I219M	ENSP00000368305:I219M	I	-	3	3	GPCPD1	5507074	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	1.277000	0.33167	-0.167000	0.10871	-0.468000	0.05107	ATA		0.448	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		C	5559074	T	C	5559074	3	2	130	1	0	0	0	0	1	0	0	0	6605	1628	57	3	1413	3	GPCPD1	20	5559074	Missense_Mutation	SNP	T	TCGA-B0-4706-01A-01D-1501-10		5559074	57466446	43	7878											
ACTR5	79913	broad.mit.edu;hgsc.bcm.edu	37	20	37383750	37383750	+	Missense_Mutation	SNP	A	A	G	rs368018075		TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr20:37383750A>G	ENST00000243903.4	+	4	963	c.926A>G	c.(925-927)aAt>aGt	p.N309S		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	309					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)		p.N309S(1)		kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CAGGAGCTCAATGCCCGGCGG	0.607																																																1	Substitution - Missense(1)	kidney(1)						A	SER/ASN	0,4406		0,0,2203	27	30	29		926	5.9	1	20		29	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTR5	NM_024855.3	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	309/608	37383750	1,13005	2203	4300	6503	SO:0001583	missense	79913			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.926A>G	20.37:g.37383750A>G	ENSP00000243903:p.Asn309Ser		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.798063	0.90538	0.0	1.16E-4	ENSG00000101442	ENST00000243903	D	0.96104	-3.91	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.80183	2.485	0.58432	D	0.999997	D	0.76494	0.999	D	0.83275	0.996	D	0.96962	0.9702	10	0.27082	T	0.32	-27.0862	16.24	0.82402	1.0:0.0:0.0:0.0	.	309	Q9H9F9	ARP5_HUMAN	S	309	ENSP00000243903:N309S	ENSP00000243903:N309S	N	+	2	0	ACTR5	36817164	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.472000	0.90407	2.241000	0.73720	0.533000	0.62120	AAT		0.607	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		G	37383750	A	G	37383750	3	3	130	1	0	0	0	0	1	0	0	0	215	101	4	3	940	3	ACTR5	20	37383750	Missense_Mutation	SNP	A	TCGA-B0-4706-01A-01D-1501-10	31824676	37383750	25641770	44	7879											
KRTAP10-6	386674	broad.mit.edu	37	21	46011526	46011526	+	Silent	SNP	T	T	A	rs371768583	byFrequency	TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr21:46011526T>A	ENST00000400368.1	-	1	860	c.840A>T	c.(838-840)acA>acT	p.T280T	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	280	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T280T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGCATGATGTGGAAGCCC	0.652													.|||	5	0.000998403	0.0008	0.0	5008	,	,		22429	0.001		0.0	False		,,,				2504	0.0031															1	Substitution - coding silent(1)	kidney(1)											106	110	109					21																	46011526		2203	4300	6503	SO:0001819	synonymous_variant	386674			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.840A>T	21.37:g.46011526T>A				Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																				0.652	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		A	46011526	T	A	46011526	2	1	130	1	0	0	0	0	0	0	0	1	8515	1451	51	5		5	KRTAP10-6	21	46011526	Silent	SNP	T	TCGA-B0-4706-01A-01D-1501-10		46011526	2118369	45	7880											
NEFH	4744	hgsc.bcm.edu	37	22	29885575	29885576	+	In_Frame_Ins	INS	-	-	TGAGAAGGCCAAGTCCCC	rs149950279		TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr22:29885575_29885576insTGAGAAGGCCAAGTCCCC	ENST00000310624.6	+	4	1979_1980	c.1946_1947insTGAGAAGGCCAAGTCCCC	c.(1945-1950)cctgag>ccTGAGAAGGCCAAGTCCCCtgag	p.649_650PE>PEKAKSPE		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	655	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GCAAAGTCCCCTGAGAAGGCCA	0.569																																																0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1947_1964dupTGAGAAGGCCAAGTCCCC	22.37:g.29885575_29885576insTGAGAAGGCCAAGTCCCC	ENSP00000311997:p.Glu644_Pro649dup		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		TGAGAAGGCCAAGTCCCC	29885576	-	TGAGAAGGCCAAGTCCCC	29885575	7	5	130	1	0	1	1	0	0	0	0	0	10316	681	24	0	1960	0	NEFH	22	29885575	In_Frame_Ins	INS	-	TCGA-B0-4706-01A-01D-1501-10		29885575	21418991	46	7881											
TCF20	6942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42607162	42607162	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chr22:42607162C>T	ENST00000359486.3	-	1	4286	c.4150G>A	c.(4150-4152)Gat>Aat	p.D1384N	TCF20_ENST00000335626.4_Missense_Mutation_p.D1384N|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D1384N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GACAGTATATCATCAAGCGTA	0.483																																																1	Substitution - Missense(1)	kidney(1)											117	111	113					22																	42607162		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4150G>A	22.37:g.42607162C>T	ENSP00000352463:p.Asp1384Asn		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239103	0.58995	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61510	0.1;0.1	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.67767	0.2928	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.81914	0.995;0.989	T	0.65207	-0.6224	10	0.39692	T	0.17	-24.0244	20.0609	0.97674	0.0:1.0:0.0:0.0	.	1384;1384	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	1384	ENSP00000352463:D1384N;ENSP00000335561:D1384N	ENSP00000335561:D1384N	D	-	1	0	TCF20	40937106	0.996000	0.38824	0.996000	0.52242	0.795000	0.44927	2.747000	0.47475	2.755000	0.94549	0.655000	0.94253	GAT		0.483	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		T	42607162	C	T	42607162	3	4	130	1	0	0	0	0	1	0	0	0	15695	826	29	2	1770	2	TCF20	22	42607162	Missense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10	12721587	42607162	8697404	47	7882											
MAGEB4	4115	broad.mit.edu;hgsc.bcm.edu	37	X	30260747	30260747	+	Silent	SNP	C	C	G			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chrX:30260747C>G	ENST00000378982.2	+	1	691	c.495C>G	c.(493-495)gcC>gcG	p.A165A	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	165	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A165A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TTGGCCTTGCCTTGAAGGAGG	0.532																																																1	Substitution - coding silent(1)	kidney(1)											68	48	54					X																	30260747		2202	4300	6502	SO:0001819	synonymous_variant	4115				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.495C>G	X.37:g.30260747C>G			B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	ENST00000378982.2	37	CCDS14221.1																																																																																				0.532	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		G	30260747	C	G	30260747	2	3	130	1	0	0	0	0	0	0	0	1	9180	668	24	4		4	MAGEB4	23	30260747	Silent	SNP	C	TCGA-B0-4706-01A-01D-1501-10		30260747	125009813	48	7883											
ZFY	7544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	Y	2829144	2829144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4706-01A-01D-1501-10	TCGA-B0-4706-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	040fdd9b-db76-4357-9aed-77a8cbde058d	c9228cb8-9a17-422d-b984-881a1cd1c4e8	g.chrY:2829144C>T	ENST00000155093.3	+	3	412	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	ZFY_ENST00000383052.1_Nonsense_Mutation_p.Q31*|ZFY_ENST00000431102.1_Intron|ZFY_ENST00000449237.1_Nonsense_Mutation_p.Q5*	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q31*(1)		biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GGATGGTGATCAGATTGTTGT	0.318																																																1	Substitution - Nonsense(1)	kidney(1)											111	98	101					Y																	2829144		632	1990	2622	SO:0001587	stop_gained	7544			L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"Zinc fingers, C2H2-type"	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.91C>T	Y.37:g.2829144C>T	ENSP00000155093:p.Gln31*		B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Nonsense_Mutation	SNP	ENST00000155093.3	37	CCDS14774.1																																																																																				0.318	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1	NM_003411		T	2829144	C	T	2829144	4	4	130	1	0	0	0	0	0	1	0	0	17667	827	29	2	97	2	ZFY	24	2829144	Nonsense_Mutation	SNP	C	TCGA-B0-4706-01A-01D-1501-10		2829144	56544422	49	7884											
CDKN2A	1029	hgsc.bcm.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4707-01A-01W-1359-10	TCGA-B0-4707-11A-01W-1359-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	f63a8eac-4ea2-46a4-821d-89432eda8a8e	dec40479-9b0c-4c4c-8c39-5379b44e4fb7	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|E -> K (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																						1343	Whole gene deletion(1316)|Unknown(13)|Substitution - Nonsense(9)|Substitution - Missense(4)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(150)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(50)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CD972119	CDKN2A	D							24	27	26					9																	21971000		2202	4298	6500	SO:0001587	stop_gained	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.358G>T	9.37:g.21971000C>A	ENSP00000307101:p.Glu120*		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.320898	0.97471	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.0988	14.364	0.66792	0.0:0.8518:0.1482:0.0	.	.	.	.	X	120	.	ENSP00000307101:E120X	E	-	1	0	CDKN2A	21961000	0.585000	0.26774	1.000000	0.80357	0.613000	0.37349	1.323000	0.33701	1.489000	0.48450	0.655000	0.94253	GAG		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		A	21971000	C	A	21971000	4	1	131	1	0	0	0	0	0	1	0	0	3163	864	30	4	120	4	CDKN2A	9	21971000	Nonsense_Mutation	SNP	C	TCGA-B0-4707-01A-01W-1359-10		21971000	119242431	1	7885											
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10318553	10318553	+	Silent	SNP	C	C	T	rs141998703	byFrequency	TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:10318553C>T	ENST00000377086.1	+	4	388	c.186C>T	c.(184-186)ccC>ccT	p.P62P	KIF1B_ENST00000263934.6_Silent_p.P62P|KIF1B_ENST00000377093.4_Silent_p.P62P|KIF1B_ENST00000377083.1_Silent_p.P62P|KIF1B_ENST00000377081.1_Silent_p.P62P			O60333	KIF1B_HUMAN	kinesin family member 1B	62	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.P62P(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTTACAGCCCGAAGATCCCT	0.353													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18586	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)						C	,	9,4397	14.3+/-33.2	0,9,2194	107	103	105		186,186	-3.3	1	1	dbSNP_134	105	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	KIF1B	NM_015074.3,NM_183416.3	,	0,11,6492	TT,TC,CC		0.0233,0.2043,0.0846	,	62/1771,62/1154	10318553	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.186C>T	1.37:g.10318553C>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37																																																																																					0.353	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10318553	C	T	10318553	2	4	132	1	0	0	0	0	0	0	0	1	8286	639	23	1		1	KIF1B	1	10318553	Silent	SNP	C	TCGA-B0-4710-01A-01D-1501-10		10318553	238932068	1	7886											
HECTD3	79654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	45471468	45471468	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:45471468G>T	ENST00000372172.4	-	15	2004	c.1933C>A	c.(1933-1935)Ctg>Atg	p.L645M	HECTD3_ENST00000372168.3_Missense_Mutation_p.L255M|HECTD3_ENST00000486132.1_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	645	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L361M(1)|p.L255M(1)|p.L645M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTACTCACCAGCACAGAGTCC	0.547																																																3	Substitution - Missense(3)	kidney(3)											76	78	77					1																	45471468		2104	4208	6312	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1933C>A	1.37:g.45471468G>T	ENSP00000361245:p.Leu645Met		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	15.42	2.827474	0.50845	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.61859	0.07;0.07	5.07	3.2	0.36748	HECT (4);	0.000000	0.64402	D	0.000002	T	0.68256	0.2981	L	0.53671	1.685	0.54753	D	0.99998	D;D	0.76494	0.999;0.967	D;P	0.87578	0.998;0.693	T	0.68032	-0.5516	10	0.66056	D	0.02	.	9.8051	0.40789	0.2225:0.0:0.7775:0.0	.	645;255	Q5T447;Q5T447-2	HECD3_HUMAN;.	M	645;255	ENSP00000361245:L645M;ENSP00000361241:L255M	ENSP00000361241:L255M	L	-	1	2	HECTD3	45244055	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	2.996000	0.49449	0.718000	0.32166	0.561000	0.74099	CTG		0.547	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		T	45471468	G	T	45471468	3	4	132	1	0	0	0	0	1	0	0	0	7043	962	34	4	680	4	HECTD3	1	45471468	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	35152915	45471468	203779153	2	7887											
ZYG11B	79699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53245564	53245564	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:53245564C>A	ENST00000294353.6	+	4	1136	c.991C>A	c.(991-993)Ctg>Atg	p.L331M	ZYG11B_ENST00000545132.1_Missense_Mutation_p.L331M|ZYG11B_ENST00000443756.2_Missense_Mutation_p.L331M	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	331								p.L331M(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TGCAGAAGCACTGAAGCGTTA	0.378																																																1	Substitution - Missense(1)	kidney(1)											170	160	163					1																	53245564		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.991C>A	1.37:g.53245564C>A	ENSP00000294353:p.Leu331Met		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544916	0.65198	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.09350	2.99;2.99;2.99	5.58	0.807	0.18714	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	M	0.83603	2.65	0.42095	D	0.991313	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.09530	-1.0670	10	0.59425	D	0.04	.	13.1471	0.59467	0.0:0.737:0.0:0.263	.	331;331	B4DK95;Q9C0D3	.;ZY11B_HUMAN	M	331	ENSP00000400522:L331M;ENSP00000441315:L331M;ENSP00000294353:L331M	ENSP00000294353:L331M	L	+	1	2	ZYG11B	53018152	0.001000	0.12720	0.972000	0.41901	0.981000	0.71138	-0.119000	0.10676	-0.096000	0.12329	-0.312000	0.09012	CTG		0.378	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		A	53245564	C	A	53245564	3	1	132	1	0	0	0	0	1	0	0	0	18258	564	20	4	1005	4	ZYG11B	1	53245564	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	7774096	53245564	196005057	3	7888											
TNNI3K	100526835	broad.mit.edu;hgsc.bcm.edu	37	1	74819043	74819043	+	Splice_Site	SNP	T	T	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:74819043T>A	ENST00000370899.3	+	12	1366	c.1329T>A	c.(1327-1329)acT>acA	p.T443T	RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Splice_Site_p.T443T|FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.T456T|TNNI3K_ENST00000326637.3_Splice_Site_p.T342T|TNNI3K_ENST00000370891.2_Splice_Site_p.T443T	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.T342T(1)									ATGGGCACACTGGTAAGACTG	0.418																																																1	Substitution - coding silent(1)	kidney(1)											98	85	89					1																	74819043		2203	4300	6503	SO:0001630	splice_region_variant	100526835					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1330+1T>A	1.37:g.74819043T>A				Silent	SNP	ENST00000370899.3	37																																																																																					0.418	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		Silent	A	74819043	T	A	74819043	5	1	132	1	0	0	0	0	0	0	1	0	16334	1594	55	5	1419	5	TNNI3K	1	74819043	Splice_Site	SNP	T	TCGA-B0-4710-01A-01D-1501-10	21573479	74819043	174431578	4	7889											
POGZ	23126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151400320	151400320	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:151400320C>T	ENST00000271715.2	-	7	1371	c.1057G>A	c.(1057-1059)Gga>Aga	p.G353R	POGZ_ENST00000531094.1_Missense_Mutation_p.G291R|POGZ_ENST00000361398.3_Missense_Mutation_p.G300R|POGZ_ENST00000392723.1_Missense_Mutation_p.G300R|POGZ_ENST00000368863.2_Missense_Mutation_p.G258R|POGZ_ENST00000409503.1_Missense_Mutation_p.G344R|POGZ_ENST00000491586.1_Missense_Mutation_p.G300R|POGZ_ENST00000540984.1_Intron	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	353					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G300R(1)|p.G353R(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTCAGGTCCGCTGGTTCTT	0.458																																																2	Substitution - Missense(2)	kidney(2)											53	49	50					1																	151400320		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1057G>A	1.37:g.151400320C>T	ENSP00000271715:p.Gly353Arg		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439512	0.43326	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	T;T;T;T;T;T;T	0.01059	5.92;5.95;5.92;5.91;5.94;5.93;5.39	4.96	4.96	0.65561	.	0.275064	0.30584	N	0.009315	T	0.00967	0.0032	N	0.08118	0	0.80722	D	1	P;P;D;D;D;D;P	0.89917	0.898;0.645;0.966;1.0;0.972;0.972;0.824	B;B;B;D;B;B;B	0.85130	0.132;0.04;0.421;0.997;0.33;0.258;0.084	T	0.75777	-0.3198	10	0.38643	T	0.18	-10.6268	9.2026	0.37268	0.0:0.9036:0.0:0.0964	.	291;344;258;353;300;300;353	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	R	300;353;300;258;344;291;300;353	ENSP00000376484:G300R;ENSP00000271715:G353R;ENSP00000354467:G300R;ENSP00000357856:G258R;ENSP00000386836:G344R;ENSP00000431259:G291R;ENSP00000418408:G300R	ENSP00000271715:G353R	G	-	1	0	POGZ	149666944	0.983000	0.35010	0.998000	0.56505	0.923000	0.55619	2.063000	0.41423	2.569000	0.86673	0.563000	0.77884	GGA		0.458	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		T	151400320	C	T	151400320	3	4	132	1	0	0	0	0	1	0	0	0	12188	661	23	1	3241	1	POGZ	1	151400320	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	76581277	151400320	97850301	5	7890											
YY1AP1	55249	broad.mit.edu	37	1	155642422	155642422	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:155642422A>G	ENST00000295566.4	-	7	733	c.710T>C	c.(709-711)aTg>aCg	p.M237T	YY1AP1_ENST00000347088.5_Missense_Mutation_p.M171T|YY1AP1_ENST00000407221.1_Missense_Mutation_p.M160T|YY1AP1_ENST00000361831.5_Missense_Mutation_p.M160T|YY1AP1_ENST00000311573.5_Missense_Mutation_p.M160T|YY1AP1_ENST00000355499.4_Missense_Mutation_p.M171T|YY1AP1_ENST00000405763.3_Missense_Mutation_p.M309T|YY1AP1_ENST00000368339.5_Missense_Mutation_p.M309T|YY1AP1_ENST00000368330.2_Missense_Mutation_p.M171T|YY1AP1_ENST00000438245.2_Missense_Mutation_p.M171T|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.M309T|YY1AP1_ENST00000359205.5_Missense_Mutation_p.M160T|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000535662.1_Missense_Mutation_p.M37T|YY1AP1_ENST00000404643.1_Missense_Mutation_p.M171T|MSTO1_ENST00000538143.1_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	237					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M237T(1)|p.M309T(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AATCAGCTGCATAGCTCCCAT	0.473																																																2	Substitution - Missense(2)	kidney(2)											72	70	70					1																	155642422		2202	4280	6482	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.710T>C	1.37:g.155642422A>G	ENSP00000295566:p.Met237Thr		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000307	0.35320	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T;T	0.24151	1.96;1.97;1.95;1.97;1.96;1.91;1.92;1.97;1.95;1.94;1.94;1.87	3.44	3.44	0.39384	.	0.417341	0.27379	N	0.019639	T	0.13841	0.0335	L	0.54323	1.7	0.35852	D	0.826877	B;B;B;B;P;B;B;B	0.40660	0.218;0.336;0.11;0.152;0.726;0.11;0.332;0.43	B;B;B;B;B;B;B;B	0.39119	0.117;0.185;0.04;0.053;0.291;0.04;0.075;0.152	T	0.05053	-1.0909	10	0.72032	D	0.01	.	10.5675	0.45181	1.0:0.0:0.0:0.0	.	171;237;309;171;309;237;171;309	B4DZQ4;B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;.;YYAP1_HUMAN;.;.	T	160;171;160;171;160;309;237;171;160;171;309;37;309;171;160;171	ENSP00000352134:M160T;ENSP00000347686:M171T;ENSP00000311138:M160T;ENSP00000316079:M171T;ENSP00000355298:M160T;ENSP00000357324:M309T;ENSP00000295566:M237T;ENSP00000357314:M171T;ENSP00000385791:M160T;ENSP00000385390:M171T;ENSP00000357323:M309T;ENSP00000437926:M37T	ENSP00000295566:M237T	M	-	2	0	YY1AP1	153909046	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.892000	0.69790	1.549000	0.49425	0.460000	0.39030	ATG		0.473	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		G	155642422	A	G	155642422	3	3	132	1	0	0	0	0	1	0	0	0	17513	217	8	3	1760	3	YY1AP1	1	155642422	Missense_Mutation	SNP	A	TCGA-B0-4710-01A-01D-1501-10	4242102	155642422	93608199	6	7891											
TTC24	164118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156552877	156552877	+	Silent	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:156552877C>T	ENST00000368237.3	+	3	954	c.954C>T	c.(952-954)agC>agT	p.S318S	TTC24_ENST00000368236.3_Silent_p.S318S|TTC24_ENST00000478081.1_Intron			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	318								p.S318S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTTTGGCAGCCTGGCCTTTG	0.652																																																1	Substitution - coding silent(1)	kidney(1)											34	39	37					1																	156552877		2015	4172	6187	SO:0001819	synonymous_variant	164118				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.954C>T	1.37:g.156552877C>T			Q5T3H7	Silent	SNP	ENST00000368237.3	37	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298875	0.23650	.	.	ENSG00000187862	ENST00000340086;ENST00000413282	.	.	.	4.72	3.81	0.43845	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50988	-0.8762	4	.	.	.	-14.1546	11.4641	0.50227	0.0:0.9118:0.0:0.0882	.	.	.	.	V	91;83	.	.	A	+	2	0	TTC24	154819501	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.626000	0.37039	1.223000	0.43536	0.455000	0.32223	GCC		0.652	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		T	156552877	C	T	156552877	2	4	132	1	0	0	0	0	0	0	0	1	16697	738	26	2		2	TTC24	1	156552877	Silent	SNP	C	TCGA-B0-4710-01A-01D-1501-10	910455	156552877	92697744	7	7892											
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	216219777	216219777	+	Silent	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:216219777G>T	ENST00000307340.3	-	32	6707	c.6321C>A	c.(6319-6321)gtC>gtA	p.V2107V	USH2A_ENST00000366943.2_Silent_p.V2107V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2107	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V2107V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTTACCTGTGACTATGTAGT	0.398										HNSCC(13;0.011)																																						2	Substitution - coding silent(2)	lung(1)|kidney(1)											100	85	90					1																	216219777		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6321C>A	1.37:g.216219777G>T			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216219777	G	T	216219777	2	4	132	1	0	0	0	0	0	0	0	1	17041	1277	45	4		4	USH2A	1	216219777	Silent	SNP	G	TCGA-B0-4710-01A-01D-1501-10	59666900	216219777	33030844	8	7893											
FMN2	56776	broad.mit.edu	37	1	240370978	240370978	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr1:240370978C>A	ENST00000319653.9	+	5	3096	c.2866C>A	c.(2866-2868)Ccg>Acg	p.P956T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	956	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1099T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AATACCCCCTCCGCCCCCTCT	0.697																																																1	Substitution - Missense(1)	kidney(1)											21	25	24					1																	240370978		2203	4297	6500	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2866C>A	1.37:g.240370978C>A	ENSP00000318884:p.Pro956Thr		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	7.867	0.727412	0.15439	.	.	ENSG00000155816	ENST00000319653	T	0.65364	-0.15	3.8	-0.779	0.10973	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.59609	0.2206	M	0.90483	3.12	0.54753	D	0.999987	B	0.26445	0.149	B	0.25884	0.064	T	0.52071	-0.8624	8	.	.	.	.	1.929	0.03323	0.1491:0.3829:0.2912:0.1768	.	956	Q9NZ56	FMN2_HUMAN	T	956	ENSP00000318884:P956T	.	P	+	1	0	FMN2	238437601	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.165000	0.03132	-0.203000	0.10251	-0.385000	0.06624	CCG		0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240370978	C	A	240370978	3	1	132	1	0	0	0	0	1	0	0	0	5952	855	30	4	2884	4	FMN2	1	240370978	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	24151201	240370978	8879643	9	7894											
MYT1L	23040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1927018	1927018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:1927018delA	ENST00000399161.2	-	10	1270	c.523delT	c.(523-525)tgtfs	p.C175fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.C175fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	175					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTATTGTGACAATTCATTTGA	0.343																																																0													42	37	39					2																	1927018		1861	4114	5975	SO:0001589	frameshift_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.523delT	2.37:g.1927018delA	ENSP00000382114:p.Cys175fs		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Frame_Shift_Del	DEL	ENST00000399161.2	37																																																																																					0.343	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		-	1927018	A	-	1927018	7	5	132	1	0	1	0	1	0	0	0	0	10109	130	5	0	3095	0	MYT1L	2	1927018	Frame_Shift_Del	DEL	A	TCGA-B0-4710-01A-01D-1501-10		1927018	241272355	10	7895											
MGAT4A	11320	broad.mit.edu;ucsc.edu	37	2	99272830	99272830	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:99272830G>A	ENST00000264968.3	-	6	1046	c.683C>T	c.(682-684)tCc>tTc	p.S228F	MGAT4A_ENST00000414521.2_Missense_Mutation_p.S100F|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000409391.1_Missense_Mutation_p.S228F|MGAT4A_ENST00000393487.1_Missense_Mutation_p.S228F			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	228					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.S228F(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TCTTTCTTTGGAGTCTCCAAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											157	164	162					2																	99272830		2203	4300	6503	SO:0001583	missense	11320			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.683C>T	2.37:g.99272830G>A	ENSP00000264968:p.Ser228Phe		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623143	0.87460	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	M	0.88241	2.94	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.99;0.977;0.998	T	0.79509	-0.1774	10	0.66056	D	0.02	-3.4992	18.3238	0.90246	0.0:0.0:1.0:0.0	.	100;100;228	E9PEN2;B4E2R6;Q9UM21	.;.;MGT4A_HUMAN	F	228;100;228;228	ENSP00000377127:S228F;ENSP00000404889:S100F;ENSP00000264968:S228F;ENSP00000386841:S228F	ENSP00000264968:S228F	S	-	2	0	MGAT4A	98639262	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	9.467000	0.97671	2.571000	0.86741	0.585000	0.79938	TCC		0.368	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		A	99272830	G	A	99272830	3	1	132	1	0	0	0	0	1	0	0	0	9547	1174	41	2	1043	2	MGAT4A	2	99272830	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	97345812	99272830	143926543	11	7896											
NPHP1	4867	hgsc.bcm.edu;ucsc.edu	37	2	110922107	110922107	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:110922107delG	ENST00000393272.3	-	8	1026	c.929delC	c.(928-930)cctfs	p.P310fs	NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000316534.4_Frame_Shift_Del_p.P310fs|NPHP1_ENST00000417665.1_Intron	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	310					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTGGAGCACAGGCTTAGAAAC	0.383																																																0													140	133	135					2																	110922107		2203	4300	6503	SO:0001589	frameshift_variant	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.929delC	2.37:g.110922107delG	ENSP00000376953:p.Pro310fs		O14837	Frame_Shift_Del	DEL	ENST00000393272.3	37	CCDS46385.1																																																																																				0.383	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		-	110922107	G	-	110922107	7	5	132	1	0	1	0	1	0	0	0	0	10581	1000	35	0	1324	0	NPHP1	2	110922107	Frame_Shift_Del	DEL	G	TCGA-B0-4710-01A-01D-1501-10	11649277	110922107	132277266	12	7897											
ACVR1C	130399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158412667	158412667	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:158412667A>G	ENST00000243349.8	-	3	842	c.482T>C	c.(481-483)gTa>gCa	p.V161A	ACVR1C_ENST00000409680.3_Missense_Mutation_p.V111A|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.V161A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TCCAGCATTTACCAGATTGCA	0.443																																																1	Substitution - Missense(1)	kidney(1)											92	86	88					2																	158412667		2203	4300	6503	SO:0001583	missense	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.482T>C	2.37:g.158412667A>G	ENSP00000243349:p.Val161Ala			Missense_Mutation	SNP	ENST00000243349.8	37	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804717	0.31961	.	.	ENSG00000123612	ENST00000243349;ENST00000409680	D;D	0.87809	-2.3;-2.18	5.95	3.61	0.41365	.	0.132404	0.33732	N	0.004612	T	0.81356	0.4805	L	0.50333	1.59	0.26048	N	0.981521	B	0.22003	0.063	B	0.24974	0.057	T	0.70706	-0.4798	10	0.46703	T	0.11	.	5.2996	0.15770	0.7304:0.0:0.1394:0.1302	.	161	Q8NER5	ACV1C_HUMAN	A	161;111	ENSP00000243349:V161A;ENSP00000387168:V111A	ENSP00000243349:V161A	V	-	2	0	ACVR1C	158120913	0.008000	0.16893	0.361000	0.25849	0.744000	0.42396	2.363000	0.44178	0.520000	0.28426	-0.263000	0.10527	GTA		0.443	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		G	158412667	A	G	158412667	3	3	132	1	0	0	0	0	1	0	0	0	222	391	14	3	1027	3	ACVR1C	2	158412667	Missense_Mutation	SNP	A	TCGA-B0-4710-01A-01D-1501-10	47490560	158412667	84786706	13	7898											
SCN9A	6335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	167055543	167055543	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	G	T	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:167055543G>T	ENST00000409435.1	-	26	5605	c.5606C>A	c.(5605-5607)tCt>tAt	p.S1869Y	SCN9A_ENST00000303354.6_Missense_Mutation_p.S1870Y|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1870Y|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1858Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1869					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.S1858F(1)|p.S1858Y(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGATTTGCAGACATGAACCT	0.428																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											173	186	182					2																	167055543		2203	4300	6503	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5606C>A	2.37:g.167055543G>T	ENSP00000386330:p.Ser1869Tyr		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731318	0.69189	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96041	-3.86;-3.89;-3.89;-3.89	6.07	6.07	0.98685	.	0.098072	0.45126	D	0.000391	D	0.93058	0.7790	N	0.19112	0.55	0.45704	D	0.998611	P	0.50272	0.933	P	0.48089	0.566	D	0.93838	0.7134	10	0.87932	D	0	.	16.1789	0.81887	0.0:0.0:0.8662:0.1338	.	1858	E7EUN6	.	Y	1858;1870;1870;1869	ENSP00000386306:S1858Y;ENSP00000364536:S1870Y;ENSP00000304748:S1870Y;ENSP00000386330:S1869Y	ENSP00000304748:S1870Y	S	-	2	0	SCN9A	166763789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.885000	0.99019	0.655000	0.94253	TCT		0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167055543	G	T	167055543	3	4	132	1	0	0	0	0	1	0	0	0	13931	942	33	4	364	4	SCN9A	2	167055543	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	8642876	167055543	76143830	14	7899											
TRIP12	9320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	230675664	230675665	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr2:230675664_230675665insT	ENST00000283943.5	-	14	2186_2187	c.2008_2009insA	c.(2008-2010)atgfs	p.M670fs	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Frame_Shift_Ins_p.M373fs|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.M718fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	670					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCGAACCACCATTATAAACATC	0.381																																																0																																										SO:0001589	frameshift_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2009dupA	2.37:g.230675666_230675666dupT	ENSP00000283943:p.Met670fs		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Ins	INS	ENST00000283943.5	37	CCDS33391.1																																																																																				0.381	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		T	230675665	-	T	230675664	7	5	132	1	0	1	1	0	0	0	0	0	16561	217	8	0	4081	0	TRIP12	2	230675664	Frame_Shift_Ins	INS	-	TCGA-B0-4710-01A-01D-1501-10	63620121	230675664	12523709	15	7900											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47143045	47143045	+	Splice_Site	SNP	A	A	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:47143045A>T	ENST00000409792.3	-	8	4960	c.4918T>A	c.(4918-4920)Tgg>Agg	p.W1640R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1640	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.W1137R(1)|p.W1640R(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCACAGTCCACTGAGATGAT	0.403			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											112	111	111					3																	47143045		2203	4300	6503	SO:0001630	splice_region_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4918-1T>A	3.37:g.47143045A>T			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734184	0.89482	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.80393	-1.37	5.85	5.85	0.93711	SET domain (3);	0.000000	0.50627	D	0.000110	D	0.91848	0.7420	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93512	0.6854	10	0.87932	D	0	.	16.2291	0.82321	1.0:0.0:0.0:0.0	.	1640;1640	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1640	ENSP00000386759:W1640R	ENSP00000386759:W1640R	W	-	1	0	SETD2	47118049	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.238000	0.95380	2.238000	0.73509	0.528000	0.53228	TGG		0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Missense_Mutation	T	47143045	A	T	47143045	5	4	132	1	0	0	0	0	0	0	1	0	14137	173	6	5	2832	5	SETD2	3	47143045	Splice_Site	SNP	A	TCGA-B0-4710-01A-01D-1501-10		47143045	150879385	16	7901											
KBTBD8	84541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	67049417	67049417	+	Missense_Mutation	SNP	C	C	G	rs552167639	byFrequency	TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:67049417C>G	ENST00000417314.2	+	2	78	c.29C>G	c.(28-30)tCt>tGt	p.S10C	KBTBD8_ENST00000295568.4_5'UTR|KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_3'UTR			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	10						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.S10C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TTAAGTAAGTCTTCCCCAACA	0.468																																																1	Substitution - Missense(1)	kidney(1)											69	66	67					3																	67049417		2202	4300	6502	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.29C>G	3.37:g.67049417C>G	ENSP00000401878:p.Ser10Cys		B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107730	0.37242	.	.	ENSG00000163376	ENST00000417314	T	0.73047	-0.71	5.37	1.22	0.21188	.	.	.	.	.	T	0.41442	0.1159	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29458	-1.0011	9	0.59425	D	0.04	.	3.4028	0.07330	0.1646:0.2336:0.4845:0.1174	.	10	Q8NFY9	KBTB8_HUMAN	C	10	ENSP00000401878:S10C	ENSP00000401878:S10C	S	+	2	0	KBTBD8	67132107	1.000000	0.71417	0.978000	0.43139	0.969000	0.65631	2.246000	0.43142	0.696000	0.31696	0.467000	0.42956	TCT		0.468	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		G	67049417	C	G	67049417	3	3	132	1	0	0	0	0	1	0	0	0	8001	913	32	4	35	4	KBTBD8	3	67049417	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	19906372	67049417	130973013	17	7902			1	15		3	3	174	C		1.095109e-07
KBTBD8	84541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	67049444	67049444	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:67049444C>G	ENST00000417314.2	+	2	105	c.56C>G	c.(55-57)tCt>tGt	p.S19C	KBTBD8_ENST00000295568.4_5'UTR|KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_3'UTR			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	19						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.S19C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GGGATTCCATCTTCAGACCCA	0.468																																																1	Substitution - Missense(1)	kidney(1)											88	81	83					3																	67049444		2203	4300	6503	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.56C>G	3.37:g.67049444C>G	ENSP00000401878:p.Ser19Cys		B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476587	0.63737	.	.	ENSG00000163376	ENST00000417314	T	0.72725	-0.68	5.52	4.64	0.57946	.	.	.	.	.	T	0.58892	0.2154	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55724	-0.8096	9	0.56958	D	0.05	.	16.628	0.84984	0.0:0.8697:0.1303:0.0	.	19	Q8NFY9	KBTB8_HUMAN	C	19	ENSP00000401878:S19C	ENSP00000401878:S19C	S	+	2	0	KBTBD8	67132134	1.000000	0.71417	0.983000	0.44433	0.945000	0.59286	4.430000	0.59907	1.442000	0.47568	0.467000	0.42956	TCT		0.468	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		G	67049444	C	G	67049444	3	3	132	1	0	0	0	0	1	0	0	0	8001	913	32	4	62	4	KBTBD8	3	67049444	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	27	67049444	130972986	18	7903			1	15		3	3	174	C		1.095109e-07
KBTBD8	84541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	67049590	67049590	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:67049590C>G	ENST00000417314.2	+	2	251	c.202C>G	c.(202-204)Ctt>Gtt	p.L68V	KBTBD8_ENST00000295568.4_Missense_Mutation_p.L42V|KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_3'UTR			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	68	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.L42V(1)|p.L68V(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TAGAAACGTTCTTGCTGCAAT	0.428																																																2	Substitution - Missense(2)	kidney(2)											183	171	175					3																	67049590		2203	4300	6503	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.202C>G	3.37:g.67049590C>G	ENSP00000401878:p.Leu68Val		B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258681	0.80246	.	.	ENSG00000163376	ENST00000295568;ENST00000417314;ENST00000460784	D;D;D	0.89485	-2.52;-2.52;-2.52	5.43	5.43	0.79202	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.123151	0.56097	D	0.000026	D	0.95999	0.8697	H	0.96015	3.755	0.51233	D	0.999918	D	0.76494	0.999	D	0.80764	0.994	D	0.96631	0.9467	10	0.87932	D	0	.	12.9082	0.58164	0.0:0.9255:0.0:0.0745	.	68	Q8NFY9	KBTB8_HUMAN	V	42;68;42	ENSP00000295568:L42V;ENSP00000401878:L68V;ENSP00000418075:L42V	ENSP00000295568:L42V	L	+	1	0	KBTBD8	67132280	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.754000	0.85163	2.708000	0.92522	0.467000	0.42956	CTT		0.428	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		G	67049590	C	G	67049590	3	3	132	1	0	0	0	0	1	0	0	0	8001	913	32	4	208	4	KBTBD8	3	67049590	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	146	67049590	130972840	19	7904			1	15		3	3	174	C		1.095109e-07
GPR27	2850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	71804019	71804019	+	Silent	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:71804019G>T	ENST00000304411.2	+	1	819	c.819G>T	c.(817-819)ctG>ctT	p.L273L	EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	273					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L273L(1)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TCCTCGTGCTGGAAGAATTCA	0.711																																																1	Substitution - coding silent(1)	kidney(1)											20	25	24					3																	71804019		2186	4300	6486	SO:0001819	synonymous_variant	2850			AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"GPCR / Class A : Orphans"	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.819G>T	3.37:g.71804019G>T				Silent	SNP	ENST00000304411.2	37	CCDS2915.1																																																																																				0.711	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		T	71804019	G	T	71804019	2	4	132	1	0	0	0	0	0	0	0	1	6687	1335	47	4		4	GPR27	3	71804019	Silent	SNP	G	TCGA-B0-4710-01A-01D-1501-10	4754429	71804019	126218411	20	7905											
CHRD	8646	broad.mit.edu	37	3	184100196	184100196	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr3:184100196C>T	ENST00000204604.1	+	7	965	c.719C>T	c.(718-720)gCa>gTa	p.A240V	CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.A240V|CHRD_ENST00000450923.1_Missense_Mutation_p.A240V|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	240	CHRD 1. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.A240V(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTGGCGGGCAGTGCCTCGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											144	154	150					3																	184100196		2203	4300	6503	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.719C>T	3.37:g.184100196C>T	ENSP00000204604:p.Ala240Val		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383067	0.61845	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.42900	0.96;0.96;0.96	4.8	3.92	0.45320	CHRD (3);	0.237237	0.41938	D	0.000787	T	0.40909	0.1136	L	0.44542	1.39	0.80722	D	1	B;P	0.42161	0.213;0.772	B;B	0.43701	0.21;0.428	T	0.37641	-0.9697	10	0.52906	T	0.07	-1.9799	13.9793	0.64295	0.0:0.8273:0.1726:0.0	.	240;240	E7ESX1;Q9H2X0	.;CHRD_HUMAN	V	240	ENSP00000204604:A240V;ENSP00000408972:A240V;ENSP00000334036:A240V	ENSP00000204604:A240V	A	+	2	0	CHRD	185582890	0.852000	0.29690	1.000000	0.80357	0.994000	0.84299	1.574000	0.36482	1.323000	0.45263	0.655000	0.94253	GCA		0.602	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		T	184100196	C	T	184100196	3	4	132	1	0	0	0	0	1	0	0	0	3374	710	25	2	745	2	CHRD	3	184100196	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	112296177	184100196	13922234	21	7906											
METAP1	23173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	99955422	99955422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr4:99955422G>T	ENST00000296411.6	+	3	342	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	METAP1_ENST00000506548.1_3'UTR|METAP1_ENST00000544031.1_Nonsense_Mutation_p.E20*	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	70					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)	p.E70*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CTGGACTGTGGAAGGTGATAT	0.428																																																1	Substitution - Nonsense(1)	kidney(1)											154	131	138					4																	99955422		692	1591	2283	SO:0001587	stop_gained	23173			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"Peptidase M"	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.208G>T	4.37:g.99955422G>T	ENSP00000296411:p.Glu70*		B4E2E6	Nonsense_Mutation	SNP	ENST00000296411.6	37	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243687	0.95272	.	.	ENSG00000164024	ENST00000296411;ENST00000544031	.	.	.	5.24	5.24	0.73138	.	0.105502	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.89	17.0421	0.86492	0.0:0.0:1.0:0.0	.	.	.	.	X	70;20	.	.	E	+	1	0	METAP1	100174445	1.000000	0.71417	0.947000	0.38551	0.967000	0.64934	8.046000	0.89438	2.456000	0.83038	0.655000	0.94253	GAA		0.428	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143		T	99955422	G	T	99955422	4	4	132	1	0	0	0	0	0	1	0	0	9488	1175	41	4	218	4	METAP1	4	99955422	Nonsense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10		99955422	91198854	22	7907											
PRLR	5618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	35084671	35084671	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr5:35084671A>G	ENST00000382002.5	-	5	700	c.274T>C	c.(274-276)Tac>Cac	p.Y92H	PRLR_ENST00000231423.3_Missense_Mutation_p.Y92H|PRLR_ENST00000513753.1_Missense_Mutation_p.Y92H|PRLR_ENST00000542609.1_Missense_Mutation_p.Y92H|PRLR_ENST00000348262.3_Missense_Mutation_p.Y92H|PRLR_ENST00000397391.3_Missense_Mutation_p.Y21H|PRLR_ENST00000310101.5_Missense_Mutation_p.Y92H|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000509934.1_5'UTR	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	92	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.Y92H(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	ATGGAGGTGTACTGCTTGCCA	0.453																																																1	Substitution - Missense(1)	kidney(1)											197	188	191					5																	35084671		2203	4300	6503	SO:0001583	missense	5618				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.274T>C	5.37:g.35084671A>G	ENSP00000371432:p.Tyr92His		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	A	1.692	-0.503657	0.04261	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206;ENST00000509839;ENST00000503330	T;T;T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.78	2.0	0.26442	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.430719	0.30879	N	0.008686	T	0.23210	0.0561	N	0.01817	-0.705	0.80722	D	1	B;B;B;B;B;B	0.09022	0.001;0.002;0.002;0.002;0.001;0.001	B;B;B;B;B;B	0.15052	0.009;0.012;0.011;0.009;0.003;0.004	T	0.29336	-1.0015	10	0.02654	T	1	-4.3519	8.9346	0.35691	0.31:0.0:0.69:0.0	.	92;92;21;92;92;92	P16471-3;P16471;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.	H	92;92;92;21;92;92;92;92;92;92	ENSP00000231423:Y92H;ENSP00000424841:Y92H;ENSP00000311613:Y92H;ENSP00000380546:Y21H;ENSP00000441813:Y92H;ENSP00000371432:Y92H;ENSP00000309008:Y92H;ENSP00000423493:Y92H;ENSP00000427060:Y92H;ENSP00000422385:Y92H	ENSP00000231423:Y92H	Y	-	1	0	PRLR	35120428	0.985000	0.35326	0.998000	0.56505	0.773000	0.43773	0.220000	0.17660	0.084000	0.17077	-0.242000	0.12053	TAC		0.453	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			G	35084671	A	G	35084671	3	3	132	1	0	0	0	0	1	0	0	0	12536	391	14	3	1618	3	PRLR	5	35084671	Missense_Mutation	SNP	A	TCGA-B0-4710-01A-01D-1501-10		35084671	145830589	23	7908											
ARL15	54622	hgsc.bcm.edu;ucsc.edu	37	5	53409047	53409047	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr5:53409047delA	ENST00000504924.1	-	4	540	c.447delT	c.(445-447)gctfs	p.A149fs	ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000507646.2_Frame_Shift_Del_p.A149fs|ARL15_ENST00000510591.2_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	149					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				GTACTGAGCGAGCTGCTGGCT	0.428																																																0													69	74	72					5																	53409047		1994	4174	6168	SO:0001589	frameshift_variant	54622			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25945	protein-coding gene	gene with protein product			"ADP-ribosylation factor related protein 2"	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.447delT	5.37:g.53409047delA	ENSP00000433427:p.Ala149fs		Q6IAD0	Frame_Shift_Del	DEL	ENST00000504924.1	37	CCDS54850.1																																																																																				0.428	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368432.2	NM_019087		-	53409047	A	-	53409047	7	5	132	1	0	1	0	1	0	0	0	0	931	291	11	0	175	0	ARL15	5	53409047	Frame_Shift_Del	DEL	A	TCGA-B0-4710-01A-01D-1501-10	18324376	53409047	127506213	24	7909	65	2									
ARL15	54622	hgsc.bcm.edu;ucsc.edu	37	5	53409049	53409049	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr5:53409049delC	ENST00000504924.1	-	4	538	c.445delG	c.(445-447)gctfs	p.A149fs	ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000507646.2_Frame_Shift_Del_p.A149fs|ARL15_ENST00000510591.2_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	149					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				ACTGAGCGAGCTGCTGGCTTG	0.428																																																0													69	74	73					5																	53409049		1993	4175	6168	SO:0001589	frameshift_variant	54622			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25945	protein-coding gene	gene with protein product			"ADP-ribosylation factor related protein 2"	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.445delG	5.37:g.53409049delC	ENSP00000433427:p.Ala149fs		Q6IAD0	Frame_Shift_Del	DEL	ENST00000504924.1	37	CCDS54850.1																																																																																				0.428	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368432.2	NM_019087		-	53409049	C	-	53409049	7	5	132	1	0	1	0	1	0	0	0	0	931	797	28	0	177	0	ARL15	5	53409049	Frame_Shift_Del	DEL	C	TCGA-B0-4710-01A-01D-1501-10	2	53409049	127506211	25	7910	65	2									
MBLAC2	153364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89757120	89757120	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr5:89757120A>C	ENST00000316610.6	-	2	1179	c.704T>G	c.(703-705)tTt>tGt	p.F235C		NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	235						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.F235C(1)		kidney(1)|liver(1)|lung(3)	5						TTCAGCACCAAAGGTATTGAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											93	89	90					5																	89757120		2203	4300	6503	SO:0001583	missense	153364			BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.704T>G	5.37:g.89757120A>C	ENSP00000314776:p.Phe235Cys		D6RJI1|Q8IY16|Q8N8D8	Missense_Mutation	SNP	ENST00000316610.6	37	CCDS4067.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969785	0.74246	.	.	ENSG00000176055;ENSG00000259131;ENSG00000259131	ENST00000316610;ENST00000556122;ENST00000546270	T	0.46451	0.87	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.73056	-0.4103	10	0.87932	D	0	-5.1307	16.6438	0.85155	1.0:0.0:0.0:0.0	.	235	Q68D91	MBLC2_HUMAN	C	235;235;165	ENSP00000314776:F235C	ENSP00000314776:F235C	F	-	2	0	AC093510.2;MBLAC2	89792876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.239000	0.89811	2.333000	0.79357	0.533000	0.62120	TTT		0.408	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	NM_203406		C	89757120	A	C	89757120	3	2	132	1	0	0	0	0	1	0	0	0	9354	14	1	5	139	5	MBLAC2	5	89757120	Missense_Mutation	SNP	A	TCGA-B0-4710-01A-01D-1501-10	36348071	89757120	91158140	26	7911											
C5orf13	9315	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	111310973	111310973	+	Intron	DEL	A	A	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr5:111310973delA	ENST00000450761.2	-	1	141				NREP-AS1_ENST00000503242.1_RNA|NREP-AS1_ENST00000507222.1_RNA|NREP_ENST00000395634.3_Frame_Shift_Del_p.C45fs			Q16612	NREP_HUMAN	neuronal regeneration related protein						axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGTCTTACACAATTCAGAACA	0.448																																																0													255	229	237					5																	111310973		692	1591	2283	SO:0001627	intron_variant	0			AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"neuronal protein 3.1"	607332	"chromosome 5 open reading frame 13", "neuronal regeneration related protein homolog (rat)"	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000450761.2:c.57+22047T>-	5.37:g.111310973delA			B2RDN8|B7Z5D2|D3DSZ8	Frame_Shift_Del	DEL	ENST00000450761.2	37	CCDS4105.1																																																																																				0.448	NREP-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370888.1	NM_004772		-	111310973	A	-	111310973	6	5	132	0	1	1	0	1	0	0	0	0	2284	130	5	0		0	C5orf13	5	111310973	Intron	DEL	A	TCGA-B0-4710-01A-01D-1501-10	21553853	111310973	69604287	27	7912											
TCP11	6954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35087006	35087006	+	Splice_Site	SNP	A	A	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr6:35087006A>T	ENST00000512012.1	-	8	1434	c.1278T>A	c.(1276-1278)atT>atA	p.I426I	TCP11_ENST00000412155.2_Splice_Site_p.I388I|TCP11_ENST00000373974.4_Splice_Site_p.I393I|TCP11_ENST00000373979.2_Splice_Site_p.I364I|TCP11_ENST00000418521.2_Splice_Site_p.I363I|TCP11_ENST00000311875.5_Splice_Site_p.I439I|TCP11_ENST00000244645.3_Splice_Site_p.I364I|TCP11_ENST00000444780.2_Splice_Site_p.I434I			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	426					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.I439I(1)|p.I364I(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CATACTCACCAATAACACTGC	0.453																																																2	Substitution - coding silent(2)	kidney(2)											313	267	283					6																	35087006		2203	4300	6503	SO:0001630	splice_region_variant	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1279+1T>A	6.37:g.35087006A>T			B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	37		.	.	.	.	.	.	.	.	.	.	A	9.004	0.980766	0.18812	.	.	ENSG00000124678	ENST00000502480	.	.	.	4.91	2.51	0.30379	.	.	.	.	.	T	0.40862	0.1134	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25467	-1.0131	4	.	.	.	-13.1343	7.5135	0.27587	0.7429:0.0:0.2571:0.0	.	.	.	.	S	234	.	.	C	-	1	0	TCP11	35194984	0.991000	0.36638	1.000000	0.80357	0.402000	0.30811	0.159000	0.16442	0.327000	0.23409	0.383000	0.25322	TGC		0.453	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728	Silent	T	35087006	A	T	35087006	5	4	132	1	0	0	0	0	0	0	1	0	15718	144	5	5	241	5	TCP11	6	35087006	Splice_Site	SNP	A	TCGA-B0-4710-01A-01D-1501-10		35087006	136028061	28	7913											
GSTA3	2940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	52764813	52764813	+	Silent	SNP	T	T	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr6:52764813T>C	ENST00000211122.3	-	5	398	c.333A>G	c.(331-333)ttA>ttG	p.L111L	GSTA3_ENST00000370968.1_Silent_p.L61L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	111	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L111L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAGGTCGACATAAGGGCAGAA	0.403																																																1	Substitution - coding silent(1)	kidney(1)											187	169	175					6																	52764813		2203	4300	6503	SO:0001819	synonymous_variant	2940			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"Glutathione S-transferases / Soluble"	4628	protein-coding gene	gene with protein product		605449	"glutathione S-transferase A3"			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.333A>G	6.37:g.52764813T>C			O43468|Q068V6|Q8WWA8|Q9H415	Silent	SNP	ENST00000211122.3	37	CCDS4947.1																																																																																				0.403	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			C	52764813	T	C	52764813	2	2	132	1	0	0	0	0	0	0	0	1	6834	1403	49	3		3	GSTA3	6	52764813	Silent	SNP	T	TCGA-B0-4710-01A-01D-1501-10	17677807	52764813	118350254	29	7914											
C7orf10	79783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	40900017	40900017	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:40900017A>G	ENST00000335693.4	+	14	1300	c.1277A>G	c.(1276-1278)gAt>gGt	p.D426G	C7orf10_ENST00000401647.2_Missense_Mutation_p.D378G|C7orf10_ENST00000309930.5_Missense_Mutation_p.D452G|C7orf10_ENST00000464028.1_3'UTR	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		426					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)	p.D452G(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CTGAGATACGATGACAGGGCC	0.562																																																2	Substitution - Missense(2)	kidney(2)											78	87	84					7																	40900017		2127	4221	6348	SO:0001583	missense	79783																														ENST00000335693.4:c.1277A>G	7.37:g.40900017A>G	ENSP00000338475:p.Asp426Gly		A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	A	4.811	0.150815	0.09185	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.86297	-2.1;0.64;0.64	5.7	5.7	0.88788	CoA-transferase family III domain (1);	0.305248	0.35646	N	0.003068	T	0.80401	0.4616	L	0.29908	0.895	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.10450	0.002;0.001;0.005	T	0.74731	-0.3566	10	0.16420	T	0.52	-15.189	15.6243	0.76840	1.0:0.0:0.0:0.0	.	378;426;415	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	G	452;378;426	ENSP00000312054:D452G;ENSP00000385222:D378G;ENSP00000338475:D426G	ENSP00000312054:D452G	D	+	2	0	C7orf10	40866542	0.356000	0.24930	0.893000	0.35052	0.013000	0.08279	3.239000	0.51360	2.165000	0.68154	0.533000	0.62120	GAT		0.562	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			G	40900017	A	G	40900017	3	3	132	1	0	0	0	0	1	0	0	0	2378	333	12	3	1302	3	C7orf10	7	40900017	Missense_Mutation	SNP	A	TCGA-B0-4710-01A-01D-1501-10		40900017	118238646	30	7915											
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48315960	48315961	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:48315960_48315961insA	ENST00000435803.1	+	17	6721_6722	c.6697_6698insA	c.(6697-6699)caafs	p.Q2233fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2233					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACTGACCTTCAAATAATGAAT	0.347																																																0																																										SO:0001589	frameshift_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6700dupA	7.37:g.48315963_48315963dupA	ENSP00000411096:p.Gln2233fs		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Ins	INS	ENST00000435803.1	37	CCDS47584.1																																																																																				0.347	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48315961	-	A	48315960	7	5	132	1	0	1	1	0	0	0	0	0	31	827	29	0	6592	0	ABCA13	7	48315960	Frame_Shift_Ins	INS	-	TCGA-B0-4710-01A-01D-1501-10	7415943	48315960	110822703	31	7916											
UPK3B	80761	broad.mit.edu;hgsc.bcm.edu	37	7	76140064	76140064	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:76140064G>T	ENST00000257632.5	+	1	223	c.95G>T	c.(94-96)gGg>gTg	p.G32V	UPK3B_ENST00000448265.3_Missense_Mutation_p.G32V|UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000334348.3_Intron|UPK3B_ENST00000419923.2_Missense_Mutation_p.G32V			Q9BT76	UPK3B_HUMAN	uroplakin 3B	32					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G32V(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGTGAGTGGGGGTCCTGGATG	0.697																																																1	Substitution - Missense(1)	kidney(1)											16	19	18					7																	76140064		2201	4297	6498	SO:0001583	missense	80761			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"uroplakin IIIb"	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.95G>T	7.37:g.76140064G>T	ENSP00000257632:p.Gly32Val		A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	37	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.778480	0.31502	.	.	ENSG00000243566	ENST00000419923;ENST00000448265;ENST00000257632	T;T;T	0.42513	0.97;0.97;0.97	4.36	0.199	0.15175	.	1.128010	0.07027	U	0.827866	T	0.21962	0.0529	N	0.08118	0	0.09310	N	0.999998	B	0.32031	0.352	B	0.32342	0.144	T	0.26087	-1.0113	10	0.87932	D	0	.	3.9566	0.09393	0.2883:0.0:0.5456:0.1661	.	32	Q9BT76	UPK3B_HUMAN	V	32	ENSP00000441602:G32V;ENSP00000441284:G32V;ENSP00000257632:G32V	ENSP00000257632:G32V	G	+	2	0	UPK3B	75978000	0.147000	0.22687	0.101000	0.21167	0.104000	0.19210	0.078000	0.14761	0.052000	0.16007	0.407000	0.27541	GGG		0.697	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		T	76140064	G	T	76140064	3	4	132	1	0	0	0	0	1	0	0	0	17016	1232	43	4	97	4	UPK3B	7	76140064	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	27824104	76140064	82998599	32	7917											
PEX1	5189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92136429	92136429	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:92136429G>C	ENST00000248633.4	-	10	1777	c.1682C>G	c.(1681-1683)tCc>tGc	p.S561C	PEX1_ENST00000438045.1_Missense_Mutation_p.S239C|PEX1_ENST00000428214.1_Missense_Mutation_p.S561C|PEX1_ENST00000541751.1_5'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	561					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.S561C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TACGCCTAAGGAATTCACTCC	0.428																																																1	Substitution - Missense(1)	kidney(1)											65	65	65					7																	92136429		2203	4300	6503	SO:0001583	missense	5189			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1682C>G	7.37:g.92136429G>C	ENSP00000248633:p.Ser561Cys		A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000207	0.35320	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.94793	-3.43;-3.44;-3.52	5.92	4.97	0.65823	.	0.567780	0.20879	N	0.084027	D	0.91033	0.7179	L	0.36672	1.1	0.80722	D	1	P;P;P	0.48162	0.906;0.761;0.761	B;B;B	0.43018	0.405;0.24;0.24	D	0.91075	0.4895	10	0.72032	D	0.01	-5.1172	11.2295	0.48903	0.0:0.0:0.6977:0.3023	.	239;353;561	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	C	239;561;561;561	ENSP00000410438:S239C;ENSP00000248633:S561C;ENSP00000394413:S561C	ENSP00000248633:S561C	S	-	2	0	PEX1	91974365	0.519000	0.26242	0.292000	0.24919	0.071000	0.16799	3.338000	0.52128	2.794000	0.96219	0.650000	0.86243	TCC		0.428	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		C	92136429	G	C	92136429	3	2	132	1	0	0	0	0	1	0	0	0	11737	1174	41	4	2229	4	PEX1	7	92136429	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	15996365	92136429	67002234	33	7918											
FAM200A	221786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99144587	99144587	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:99144587A>C	ENST00000449309.1	-	2	1823	c.1444T>G	c.(1444-1446)Tca>Gca	p.S482A		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	482						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.S482A(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						gtgaatgatgaactgagctgc	0.299																																																1	Substitution - Missense(1)	kidney(1)											27	30	29					7																	99144587		1493	2618	4111	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.1444T>G	7.37:g.99144587A>C	ENSP00000411372:p.Ser482Ala		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	A	9.176	1.022252	0.19433	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.24151	1.87;1.87	1.69	1.69	0.24217	.	0.885835	0.09342	N	0.815391	T	0.12347	0.0300	N	0.17800	0.525	0.19775	N	0.999956	B	0.24823	0.112	B	0.24006	0.05	T	0.33599	-0.9862	10	0.02654	T	1	.	5.4497	0.16556	1.0:0.0:0.0:0.0	.	482	Q8TCP9	F200A_HUMAN	A	482	ENSP00000411372:S482A;ENSP00000386191:S482A	ENSP00000386191:S482A	S	-	1	0	FAM200A	98982523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.041000	0.41213	1.024000	0.39682	0.383000	0.25322	TCA		0.299	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		C	99144587	A	C	99144587	3	2	132	1	0	0	0	0	1	0	0	0	5538	246	9	5	281	5	FAM200A	7	99144587	Missense_Mutation	SNP	A	TCGA-B0-4710-01A-01D-1501-10	7008158	99144587	59994076	34	7919	66	2									
FAM200A	221786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99144589	99144589	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:99144589C>T	ENST00000449309.1	-	2	1821	c.1442G>A	c.(1441-1443)aGt>aAt	p.S481N		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	481						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.S481N(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						gaatgatgaactgagctgcaa	0.303																																																1	Substitution - Missense(1)	kidney(1)											26	29	28					7																	99144589		1493	2627	4120	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.1442G>A	7.37:g.99144589C>T	ENSP00000411372:p.Ser481Asn		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678840	0.47886	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.26518	1.73;1.73	1.69	1.69	0.24217	.	0.244264	0.25897	N	0.027583	T	0.38427	0.1040	M	0.73962	2.25	0.20975	N	0.999818	D	0.63046	0.992	P	0.58520	0.84	T	0.07046	-1.0793	10	0.37606	T	0.19	.	6.8453	0.23984	0.0:1.0:0.0:0.0	.	481	Q8TCP9	F200A_HUMAN	N	481	ENSP00000411372:S481N;ENSP00000386191:S481N	ENSP00000386191:S481N	S	-	2	0	FAM200A	98982525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.167000	0.16602	1.243000	0.43853	0.467000	0.42956	AGT		0.303	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		T	99144589	C	T	99144589	3	4	132	1	0	0	0	0	1	0	0	0	5538	565	20	2	283	2	FAM200A	7	99144589	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	2	99144589	59994074	35	7920	66	2									
C7orf49	78996	broad.mit.edu;ucsc.edu	37	7	134853617	134853617	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:134853617G>T	ENST00000393114.3	-	2	239	c.58C>A	c.(58-60)Cag>Aag	p.Q20K	C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000430372.1_Missense_Mutation_p.P5Q|C7orf49_ENST00000483029.2_Intron|RP11-134L10.1_ENST00000608819.1_RNA			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	20						cytoplasm (GO:0005737)		p.Q20K(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GTAGCCACCTGGGCTGTCAGC	0.527											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											133	130	131					7																	134853617		2203	4300	6503	SO:0001583	missense	78996			BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"modulator of retrovirus infection"					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.58C>A	7.37:g.134853617G>T	ENSP00000376823:p.Gln20Lys	1613	Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	CCDS5838.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.968|4.968	0.179823|0.179823	0.09443|0.09443	.|.	.|.	ENSG00000122783|ENSG00000122783	ENST00000430372|ENST00000393114	.|.	.|.	.|.	4.4|4.4	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|T	0.20981|0.20981	0.0505|0.0505	L|L	0.29908|0.29908	0.895|0.895	0.23673|0.23673	N|N	0.997145|0.997145	D|P	0.57257|0.36909	0.979|0.573	P|B	0.60949|0.38378	0.881|0.272	T|T	0.16335|0.16335	-1.0406|-1.0406	8|8	0.87932|0.02654	D|T	0|1	-5.2487|-5.2487	5.95|5.95	0.19239|0.19239	0.1045:0.1934:0.7021:0.0|0.1045:0.1934:0.7021:0.0	.|.	5|20	C9JKC7|Q9BWK5	.|MRI_HUMAN	Q|K	5|20	.|.	ENSP00000389941:P5Q|ENSP00000376823:Q20K	P|Q	-|-	2|1	0|0	C7orf49|C7orf49	134504157|134504157	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.155000|0.155000	0.21991|0.21991	1.503000|1.503000	0.35715|0.35715	0.490000|0.490000	0.27771|0.27771	-0.379000|-0.379000	0.06801|0.06801	CCA|CAG		0.527	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		T	134853617	G	T	134853617	3	4	132	1	0	0	0	0	1	0	0	0	2400	1357	47	4	427	4	C7orf49	7	134853617	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	35709028	134853617	24285046	36	7921											
TRIM24	8805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138265317	138265317	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr7:138265317A>C	ENST00000343526.4	+	16	2811	c.2596A>C	c.(2596-2598)Att>Ctt	p.I866L	TRIM24_ENST00000415680.2_Missense_Mutation_p.I832L			O15164	TIF1A_HUMAN	tripartite motif containing 24	866					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I866L(1)|p.I832L(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGGAGAGTGGATTTGCACTTT	0.403																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											2	Substitution - Missense(2)	kidney(2)											223	205	211					7																	138265317		2203	4300	6503	SO:0001583	missense	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2596A>C	7.37:g.138265317A>C	ENSP00000340507:p.Ile866Leu		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642124	0.47153	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	D;T	0.84223	-1.82;1.06	5.66	5.66	0.87406	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.148239	0.64402	D	0.000012	T	0.76090	0.3939	N	0.12663	0.25	0.45183	D	0.99819	B;B	0.15719	0.012;0.014	B;B	0.33254	0.16;0.099	T	0.69957	-0.5004	10	0.13108	T	0.6	-11.5083	15.5469	0.76108	1.0:0.0:0.0:0.0	.	866;832	O15164;O15164-2	TIF1A_HUMAN;.	L	866;777;832	ENSP00000340507:I866L;ENSP00000390829:I832L	ENSP00000340507:I866L	I	+	1	0	TRIM24	137915857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.661000	0.54503	2.143000	0.66587	0.533000	0.62120	ATT		0.403	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		C	138265317	A	C	138265317	3	2	132	1	0	0	0	0	1	0	0	0	16503	333	12	5	2658	5	TRIM24	7	138265317	Missense_Mutation	SNP	A	TCGA-B0-4710-01A-01D-1501-10	3411700	138265317	20873346	37	7922											
PRSS3	5646	hgsc.bcm.edu	37	9	33799094	33799094	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr9:33799094delT	ENST00000361005.5	+	5	831	c.831delT	c.(829-831)tgtfs	p.C277fs	PRSS3_ENST00000429677.3_Frame_Shift_Del_p.C213fs|PRSS3_ENST00000379405.3_Frame_Shift_Del_p.C220fs|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000342836.4_Frame_Shift_Del_p.C234fs	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	277	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCCATGGCTGTGCCTGGAAGA	0.557																																																0													92	88	90					9																	33799094		2203	4300	6503	SO:0001589	frameshift_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.831delT	9.37:g.33799094delT	ENSP00000354280:p.Cys277fs		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Frame_Shift_Del	DEL	ENST00000361005.5	37	CCDS47958.1																																																																																				0.557	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		-	33799094	T	-	33799094	7	5	132	1	0	1	0	1	0	0	0	0	12627	1702	59	0	893	0	PRSS3	9	33799094	Frame_Shift_Del	DEL	T	TCGA-B0-4710-01A-01D-1501-10		33799094	107414337	38	7923											
FAM120A	23196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	96318810	96318810	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr9:96318810C>G	ENST00000277165.6	+	13	2615	c.2421C>G	c.(2419-2421)ttC>ttG	p.F807L	FAM120A_ENST00000340893.4_Missense_Mutation_p.F807L|FAM120A_ENST00000333936.5_Missense_Mutation_p.F835L	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	807						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.F807L(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAAGCTCTTCCAATCCAAAC	0.522																																																1	Substitution - Missense(1)	kidney(1)											166	167	166					9																	96318810		2203	4300	6503	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2421C>G	9.37:g.96318810C>G	ENSP00000277165:p.Phe807Leu		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770879	0.49680	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.92	5.03	0.67393	.	0.069009	0.64402	D	0.000009	T	0.40372	0.1114	N	0.26042	0.785	0.44409	D	0.997322	B;B;B	0.26258	0.009;0.011;0.145	B;B;B	0.29353	0.006;0.008;0.101	T	0.29150	-1.0021	10	0.42905	T	0.14	-15.3522	10.6503	0.45645	0.0:0.7995:0.1318:0.0688	.	807;835;807	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	L	807;835;807;229	ENSP00000277165:F807L;ENSP00000334918:F835L;ENSP00000344698:F807L;ENSP00000412440:F229L	ENSP00000277165:F807L	F	+	3	2	FAM120A	95358631	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.652000	0.37313	1.520000	0.48965	0.655000	0.94253	TTC		0.522	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		G	96318810	C	G	96318810	3	3	132	1	0	0	0	0	1	0	0	0	5417	854	30	4	2471	4	FAM120A	9	96318810	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	62519716	96318810	44894621	39	7924											
KIAA0368	23392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	114159361	114159361	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr9:114159361C>A	ENST00000338205.5	-	24	2944	c.2725G>T	c.(2725-2727)Gct>Tct	p.A909S	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.A1087S			Q5VYK3	ECM29_HUMAN	KIAA0368	915					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.A1087S(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCTCGGGCAGCCACAGAACTA	0.423																																																1	Substitution - Missense(1)	kidney(1)											109	107	108					9																	114159361		1890	4109	5999	SO:0001583	missense	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2725G>T	9.37:g.114159361C>A	ENSP00000339889:p.Ala909Ser		O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	C	17.77	3.471120	0.63625	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.44482	0.92	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.50333	1.59	0.80722	D	1	B	0.29988	0.264	B	0.26864	0.074	T	0.17471	-1.0368	10	0.18276	T	0.48	-12.5349	19.3973	0.94612	0.0:1.0:0.0:0.0	.	384	B3KXF2	.	S	909;1087;384	ENSP00000259335:A1087S	ENSP00000259335:A1087S	A	-	1	0	KIAA0368	113199182	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.687000	0.68219	2.660000	0.90430	0.655000	0.94253	GCT		0.423	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		A	114159361	C	A	114159361	3	1	132	1	0	0	0	0	1	0	0	0	8173	739	26	4	2898	4	KIAA0368	9	114159361	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	17840551	114159361	27054070	40	7925											
NR6A1	2649	hgsc.bcm.edu;ucsc.edu	37	9	127298262	127298262	+	Frame_Shift_Del	DEL	T	T	-	rs147044555		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr9:127298262delT	ENST00000487099.2	-	7	1131	c.974delA	c.(973-975)cagfs	p.Q325fs	NR6A1_ENST00000416460.2_Frame_Shift_Del_p.Q320fs|NR6A1_ENST00000373584.3_Frame_Shift_Del_p.Q321fs|NR6A1_ENST00000344523.4_Frame_Shift_Del_p.Q324fs	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	325					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GATTAGCTCCTGCCACGTAGA	0.512																																					Esophageal Squamous(192;272 2884 6208 20560)											0													137	112	120					9																	127298262		2203	4300	6503	SO:0001589	frameshift_variant	2649			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.974delA	9.37:g.127298262delT	ENSP00000420267:p.Gln325fs		O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Frame_Shift_Del	DEL	ENST00000487099.2	37	CCDS35137.1																																																																																				0.512	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			-	127298262	T	-	127298262	7	5	132	1	0	1	0	1	0	0	0	0	10639	1580	55	0	484	0	NR6A1	9	127298262	Frame_Shift_Del	DEL	T	TCGA-B0-4710-01A-01D-1501-10	13138901	127298262	13915169	41	7926											
ARMC3	219681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	23321851	23321851	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr10:23321851G>C	ENST00000298032.5	+	18	2392	c.2308G>C	c.(2308-2310)Gaa>Caa	p.E770Q	ARMC3_ENST00000409983.3_Missense_Mutation_p.E763Q|ARMC3_ENST00000376528.4_Missense_Mutation_p.E507Q	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	770						extracellular vesicular exosome (GO:0070062)		p.E770Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTCAGCTGGGAACTTCACAT	0.348																																																1	Substitution - Missense(1)	kidney(1)											98	92	94					10																	23321851		2203	4300	6503	SO:0001583	missense	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2308G>C	10.37:g.23321851G>C	ENSP00000298032:p.Glu770Gln		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307762	0.60305	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.42900	0.96;0.96;2.18	5.37	3.48	0.39840	.	1.031960	0.07611	N	0.925358	T	0.65739	0.2720	M	0.62723	1.935	0.45139	D	0.998159	D;D	0.89917	0.999;1.0	D;D	0.85130	0.953;0.997	T	0.57682	-0.7769	10	0.72032	D	0.01	-10.3076	16.0661	0.80878	0.0:0.2539:0.7461:0.0	.	763;770	Q5W041-4;Q5W041	.;ARMC3_HUMAN	Q	770;763;507	ENSP00000298032:E770Q;ENSP00000386943:E763Q;ENSP00000365711:E507Q	ENSP00000298032:E770Q	E	+	1	0	ARMC3	23361857	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.279000	0.58953	0.722000	0.32252	-0.315000	0.08773	GAA		0.348	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		C	23321851	G	C	23321851	3	2	132	1	0	0	0	0	1	0	0	0	952	1175	41	4	2374	4	ARMC3	10	23321851	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10		23321851	112212896	42	7927											
ZNF22	7570	broad.mit.edu;ucsc.edu	37	10	45499247	45499247	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr10:45499247G>T	ENST00000298299.3	+	2	1024	c.431G>T	c.(430-432)tGt>tTt	p.C144F	C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	144					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C144F(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				TGTGATGAGTGTGGCCGGTGT	0.458																																																1	Substitution - Missense(1)	kidney(1)											94	98	96					10																	45499247		2203	4300	6503	SO:0001583	missense	7570			BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"Zinc fingers, C2H2-type"	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.431G>T	10.37:g.45499247G>T	ENSP00000298299:p.Cys144Phe		Q5T741|Q96FM4	Missense_Mutation	SNP	ENST00000298299.3	37	CCDS7211.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422559	0.83559	.	.	ENSG00000165512	ENST00000298299	D	0.85861	-2.04	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000054	D	0.95124	0.8420	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96309	0.9227	10	0.87932	D	0	-26.0164	16.6834	0.85298	0.0:0.0:1.0:0.0	.	144	P17026	ZNF22_HUMAN	F	144	ENSP00000298299:C144F	ENSP00000298299:C144F	C	+	2	0	ZNF22	44819253	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.579000	0.98204	2.790000	0.95986	0.655000	0.94253	TGT		0.458	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		T	45499247	G	T	45499247	3	4	132	1	0	0	0	0	1	0	0	0	17779	1377	48	4	433	4	ZNF22	10	45499247	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	22177396	45499247	90035500	43	7928											
CDH23	64072	broad.mit.edu	37	10	73442209	73442209	+	Silent	SNP	C	C	T	rs397517312		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr10:73442209C>T	ENST00000224721.6	+	17	1886	c.1881C>T	c.(1879-1881)agC>agT	p.S627S	CDH23_ENST00000299366.7_Silent_p.S667S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	622	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.S627S(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGTGATCAGCGTCAGTCGCC	0.552																																																1	Substitution - coding silent(1)	kidney(1)											56	58	58					10																	73442209		2012	4187	6199	SO:0001819	synonymous_variant	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1881C>T	10.37:g.73442209C>T			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																					0.552	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73442209	C	T	73442209	2	4	132	1	0	0	0	0	0	0	0	1	3110	767	27	1		1	CDH23	10	73442209	Silent	SNP	C	TCGA-B0-4710-01A-01D-1501-10	27942962	73442209	62092538	44	7929											
ASCC1	51008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73912709	73912709	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr10:73912709C>A	ENST00000342444.4	-	8	849	c.748G>T	c.(748-750)Gca>Tca	p.A250S	ASCC1_ENST00000545550.1_Missense_Mutation_p.A244S|ASCC1_ENST00000394915.3_Missense_Mutation_p.A250S|ASCC1_ENST00000394919.1_Missense_Mutation_p.A222S|ASCC1_ENST00000317168.6_Missense_Mutation_p.A222S|ASCC1_ENST00000317126.4_Missense_Mutation_p.A222S	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	250				A -> P (in Ref. 1 and 2). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)	p.A222S(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TCTATCCCTGCCATCTCCACT	0.393																																																1	Substitution - Missense(1)	kidney(1)											138	113	122					10																	73912709		2203	4300	6503	SO:0001583	missense	51008			AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.748G>T	10.37:g.73912709C>A	ENSP00000339404:p.Ala250Ser		Q5SW06|Q5SW07|Q96EI8|Q9Y307	Missense_Mutation	SNP	ENST00000342444.4	37	CCDS55713.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	8.293|8.293|8.293	0.818182|0.818182|0.818182	0.16607|0.16607|0.16607	.|.|.	.|.|.	ENSG00000138303|ENSG00000138303|ENSG00000138303	ENST00000394919;ENST00000342444;ENST00000317168;ENST00000373101;ENST00000503308;ENST00000317126;ENST00000545550;ENST00000394915|ENST00000486689|ENST00000530394	T;T;T;T;T;T|.|.	0.62639|.|.	0.01;0.01;0.01;0.01;0.01;0.01|.|.	5.24|5.24|5.24	-0.644|-0.644|-0.644	0.11479|0.11479|0.11479	Protein kinase A anchor protein, nuclear localisation signal domain (1);|.|.	0.868004|.|.	0.10439|.|.	N|.|.	0.674533|.|.	T|T|T	0.24547|0.24547|0.24547	0.0595|0.0595|0.0595	L|L|L	0.31664|0.31664|0.31664	0.95|0.95|0.95	0.19775|0.19775|0.19775	N|N|N	0.999956|0.999956|0.999956	B;B;B|.|.	0.23249|.|.	0.016;0.036;0.082|.|.	B;B;B|.|.	0.20955|.|.	0.006;0.026;0.032|.|.	T|T|T	0.28776|0.28776|0.28776	-1.0033|-1.0033|-1.0033	10|5|5	0.17832|.|.	T|.|.	0.49|.|.	-13.9385|-13.9385|-13.9385	5.5375|5.5375|5.5375	0.17020|0.17020|0.17020	0.4341:0.388:0.1093:0.0686|0.4341:0.388:0.1093:0.0686|0.4341:0.388:0.1093:0.0686	.|.|.	244;250;137|.|.	F5H874;Q8N9N2;B3KU20|.|.	.;ASCC1_HUMAN;.|.|.	S|V|C	222;250;222;222;137;222;244;250|153|19	ENSP00000378377:A222S;ENSP00000339404:A250S;ENSP00000320810:A222S;ENSP00000320461:A222S;ENSP00000442121:A244S;ENSP00000378373:A250S|.|.	ENSP00000320461:A222S|.|.	A|G|W	-|-|-	1|2|3	0|0|0	ASCC1|ASCC1|ASCC1	73582715|73582715|73582715	0.190000|0.190000|0.190000	0.23276|0.23276|0.23276	0.573000|0.573000|0.573000	0.28510|0.28510|0.28510	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	-0.010000|-0.010000|-0.010000	0.12743|0.12743|0.12743	-0.010000|-0.010000|-0.010000	0.14271|0.14271|0.14271	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GCA|GGC|TGG		0.393	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	NM_015947		A	73912709	C	A	73912709	3	1	132	1	0	0	0	0	1	0	0	0	1031	739	26	4	425	4	ASCC1	10	73912709	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	470500	73912709	61622038	45	7930											
CYP2R1	120227	hgsc.bcm.edu	37	11	14913615	14913616	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:14913615_14913616insG	ENST00000334636.5	-	1	182_183	c.136_137insC	c.(136-138)ctgfs	p.L46fs	CYP2R1_ENST00000526489.1_5'Flank|CYP2R1_ENST00000532378.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	46					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GATAAATGGCAGCCCCGGCGGC	0.658																																					NSCLC(173;1584 2058 26117 29365 41534)											0																																										SO:0001589	frameshift_variant	120227			AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"Cytochrome P450s"	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.137dupC	11.37:g.14913616_14913616dupG	ENSP00000334592:p.Leu46fs		Q2M3H3|Q5RT65	Frame_Shift_Ins	INS	ENST00000334636.5	37	CCDS7818.1																																																																																				0.658	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		G	14913616	-	G	14913615	7	5	132	1	0	1	1	0	0	0	0	0	4175	188	7	0	1388	0	CYP2R1	11	14913615	Frame_Shift_Ins	INS	-	TCGA-B0-4710-01A-01D-1501-10		14913615	120092901	46	7931											
CHST1	8534	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	45671655	45671655	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:45671655delG	ENST00000308064.2	-	4	1489	c.819delC	c.(817-819)accfs	p.T274fs	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	274					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGCACACCGTGGTCAGCTGCG	0.652																																																0													92	76	82					11																	45671655		2203	4299	6502	SO:0001589	frameshift_variant	8534			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.819delC	11.37:g.45671655delG	ENSP00000309270:p.Thr274fs		D3DQP2	Frame_Shift_Del	DEL	ENST00000308064.2	37	CCDS7913.1																																																																																				0.652	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		-	45671655	G	-	45671655	7	5	132	1	0	1	0	1	0	0	0	0	3399	1335	47	0	420	0	CHST1	11	45671655	Frame_Shift_Del	DEL	G	TCGA-B0-4710-01A-01D-1501-10	30758040	45671655	89334861	47	7932											
OR5T3	390154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56020415	56020415	+	Missense_Mutation	SNP	C	C	A	rs149435695		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:56020415C>A	ENST00000303059.3	+	1	740	c.740C>A	c.(739-741)tCc>tAc	p.S247Y		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S247Y(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTCCTCATTTCCTGTGATTTC	0.423																																																1	Substitution - Missense(1)	kidney(1)											252	228	236					11																	56020415		2201	4295	6496	SO:0001583	missense	390154			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.740C>A	11.37:g.56020415C>A	ENSP00000305403:p.Ser247Tyr		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831488	0.32329	.	.	ENSG00000172489	ENST00000303059	T	0.46063	0.88	4.65	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000248	T	0.77798	0.4184	H	0.98901	4.365	0.30985	N	0.722022	D	0.89917	1.0	D	0.75484	0.986	D	0.85108	0.0961	10	0.87932	D	0	.	14.5716	0.68216	0.1473:0.8527:0.0:0.0	.	247	Q8NGG3	OR5T3_HUMAN	Y	247	ENSP00000305403:S247Y	ENSP00000305403:S247Y	S	+	2	0	OR5T3	55776991	0.996000	0.38824	0.011000	0.14972	0.007000	0.05969	4.202000	0.58446	1.296000	0.44742	0.643000	0.83706	TCC		0.423	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		A	56020415	C	A	56020415	3	1	132	1	0	0	0	0	1	0	0	0	11185	855	30	4	742	4	OR5T3	11	56020415	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	10348760	56020415	78986101	48	7933											
MOGAT2	80168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	75439854	75439854	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:75439854T>C	ENST00000198801.5	+	5	740	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L	MOGAT2_ENST00000526712.1_Missense_Mutation_p.F142L	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	224					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.F224L(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGTGCCAATCTTCTCCTTCGG	0.537																																																1	Substitution - Missense(1)	kidney(1)											87	87	87					11																	75439854		2200	4293	6493	SO:0001583	missense	80168			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.670T>C	11.37:g.75439854T>C	ENSP00000198801:p.Phe224Leu		A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403135	0.62288	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.16597	2.33;2.33	6.17	6.17	0.99709	.	0.142318	0.64402	D	0.000004	T	0.30355	0.0762	M	0.65975	2.015	0.80722	D	1	P	0.41848	0.763	P	0.48571	0.582	T	0.01136	-1.1440	10	0.30854	T	0.27	-6.9472	15.6572	0.77150	0.0:0.0:0.0:1.0	.	224	Q3SYC2	MOGT2_HUMAN	L	224;142	ENSP00000198801:F224L;ENSP00000436283:F142L	ENSP00000198801:F224L	F	+	1	0	MOGAT2	75117502	1.000000	0.71417	0.976000	0.42696	0.360000	0.29518	7.654000	0.83653	2.371000	0.80710	0.533000	0.62120	TTC		0.537	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		C	75439854	T	C	75439854	3	2	132	1	0	0	0	0	1	0	0	0	9697	1609	56	3	688	3	MOGAT2	11	75439854	Missense_Mutation	SNP	T	TCGA-B0-4710-01A-01D-1501-10	19419439	75439854	59566662	49	7934											
CLNS1A	1207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77348740	77348742	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	AAA	AAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:77348740_77348742delAAA	ENST00000525428.1	-	1	108_110	c.18_20delTTT	c.(16-21)agtttc>agc	p.F7del	CLNS1A_ENST00000528364.1_In_Frame_Del_p.F7del|CLNS1A_ENST00000525064.1_In_Frame_Del_p.F7del|CLNS1A_ENST00000532069.1_In_Frame_Del_p.F7del|CLNS1A_ENST00000263309.3_In_Frame_Del_p.F7del	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	7					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			AGGCGGCGGGAAACTTTTGAGGA	0.64																																																0																																										SO:0001651	inframe_deletion	1207			U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.18_20delTTT	11.37:g.77348740_77348742delAAA	ENSP00000433919:p.Phe7del		B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	In_Frame_Del	DEL	ENST00000525428.1	37	CCDS8252.1																																																																																				0.64	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382156.2	NM_001293		-	77348742	AAA	-	77348740	7	5	132	1	0	1	0	1	0	0	0	0	3550	246	9	0	717	0	CLNS1A	11	77348740	In_Frame_Del	DEL	AAA	TCGA-B0-4710-01A-01D-1501-10	1908886	77348740	57657776	50	7935											
MTNR1B	4544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92714908	92714908	+	Silent	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:92714908G>C	ENST00000257068.2	+	2	525	c.519G>C	c.(517-519)ctG>ctC	p.L173L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	173					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.L173L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGGCCTTGCTGCCCAACTTCT	0.612																																																1	Substitution - coding silent(1)	kidney(1)											104	103	104					11																	92714908		2201	4298	6499	SO:0001819	synonymous_variant	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.519G>C	11.37:g.92714908G>C				Silent	SNP	ENST00000257068.2	37	CCDS8290.1																																																																																				0.612	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			C	92714908	G	C	92714908	2	2	132	1	0	0	0	0	0	0	0	1	9954	1306	46	4		4	MTNR1B	11	92714908	Silent	SNP	G	TCGA-B0-4710-01A-01D-1501-10	15366168	92714908	42291608	51	7936											
DDX6	1656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118635936	118635937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr11:118635936_118635937insA	ENST00000526070.2	-	6	986_987	c.626_627insT	c.(625-627)atafs	p.I209fs	DDX6_ENST00000264018.4_Frame_Shift_Ins_p.I209fs|DDX6_ENST00000534980.1_Frame_Shift_Ins_p.I209fs	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	209	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CAAGCCTCATTATGTCATCTCG	0.381			T	IGH@	B-NHL																																		Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	0																																										SO:0001589	frameshift_variant	1656			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"DEAD-boxes"	2747	protein-coding gene	gene with protein product		600326	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.627dupT	11.37:g.118635937_118635937dupA	ENSP00000433704:p.Ile209fs		Q5D048	Frame_Shift_Ins	INS	ENST00000526070.2	37	CCDS44751.1																																																																																				0.381	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		A	118635937	-	A	118635936	7	5	132	1	0	1	1	0	0	0	0	0	4379	1744	61	0	856	0	DDX6	11	118635936	Frame_Shift_Ins	INS	-	TCGA-B0-4710-01A-01D-1501-10	25921028	118635936	16370580	52	7937											
PLEKHA5	54477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	19436378	19436378	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr12:19436378G>C	ENST00000299275.6	+	11	1466	c.1460G>C	c.(1459-1461)gGa>gCa	p.G487A	PLEKHA5_ENST00000309364.4_Missense_Mutation_p.G487A|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.G487A|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.G487A|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.G487A|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.G379A|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.G487A|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.G245A|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.G493A|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.G379A	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	487					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.G487A(1)|p.G493A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TTAGGACCCGGAGCGGAGGAG	0.498																																					Pancreas(196;329 2193 11246 14234 19524)											2	Substitution - Missense(2)	kidney(2)											92	86	88					12																	19436378		2203	4300	6503	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1460G>C	12.37:g.19436378G>C	ENSP00000299275:p.Gly487Ala		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.312643	0.00237	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	4.19	-0.289	0.12851	.	1.001330	0.08054	N	0.997056	T	0.06600	0.0169	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B	0.19706	0.013;0.004;0.001;0.001;0.038;0.02;0.001	B;B;B;B;B;B;B	0.15484	0.012;0.005;0.002;0.002;0.013;0.008;0.004	T	0.29549	-1.0008	10	0.05351	T	0.99	-7.3721	18.7381	0.91764	0.0:0.5438:0.4562:0.0	.	487;379;379;493;493;487;487	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	A	487;487;487;494;487;493;487;245;487;379;379;379	ENSP00000325155:G487A;ENSP00000347560:G487A;ENSP00000352104:G487A;ENSP00000311239:G487A;ENSP00000404296:G493A;ENSP00000299275:G487A;ENSP00000440611:G245A;ENSP00000439673:G487A;ENSP00000400411:G379A;ENSP00000439837:G379A;ENSP00000440371:G379A	ENSP00000299275:G487A	G	+	2	0	PLEKHA5	19327645	0.000000	0.05858	0.001000	0.08648	0.314000	0.28054	-0.168000	0.09925	0.122000	0.18314	0.655000	0.94253	GGA		0.498	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		C	19436378	G	C	19436378	3	2	132	1	0	0	0	0	1	0	0	0	12061	1174	41	4	1502	4	PLEKHA5	12	19436378	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10		19436378	114415517	53	7938											
TRHDE	29953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	73012774	73012774	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr12:73012774C>A	ENST00000261180.4	+	13	2386	c.2290C>A	c.(2290-2292)Cta>Ata	p.L764I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	764					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L764I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCTTTATCCTCTAGATAAATT	0.353																																																1	Substitution - Missense(1)	kidney(1)											50	53	52					12																	73012774		2202	4300	6502	SO:0001583	missense	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2290C>A	12.37:g.73012774C>A	ENSP00000261180:p.Leu764Ile		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349596	0.61183	.	.	ENSG00000072657	ENST00000261180	T	0.05447	3.44	5.77	4.87	0.63330	.	0.000000	0.64402	D	0.000001	T	0.06234	0.0161	N	0.24115	0.695	0.53688	D	0.999974	B	0.24882	0.113	B	0.32724	0.151	T	0.44967	-0.9293	10	0.14252	T	0.57	.	15.7537	0.78009	0.0:0.9315:0.0:0.0685	.	764	Q9UKU6	TRHDE_HUMAN	I	764	ENSP00000261180:L764I	ENSP00000261180:L764I	L	+	1	2	TRHDE	71299041	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.492000	0.53259	2.885000	0.99019	0.655000	0.94253	CTA		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		A	73012774	C	A	73012774	3	1	132	1	0	0	0	0	1	0	0	0	16484	912	32	4	2340	4	TRHDE	12	73012774	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	53576396	73012774	60839121	54	7939											
ATP12A	479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25266644	25266644	+	Silent	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr13:25266644C>T	ENST00000381946.3	+	9	1313	c.1146C>T	c.(1144-1146)ctC>ctT	p.L382L	ATP12A_ENST00000218548.6_Silent_p.L388L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	382				L -> P (in Ref. 9; AAA35576). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.L382L(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TGGAGACCCTCGGCTCCACCT	0.567																																					Pancreas(156;1582 1935 18898 22665 26498)											1	Substitution - coding silent(1)	kidney(1)											88	80	83					13																	25266644		2203	4300	6503	SO:0001819	synonymous_variant	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1146C>T	13.37:g.25266644C>T			Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	CCDS31948.1																																																																																				0.567	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		T	25266644	C	T	25266644	2	4	132	1	0	0	0	0	0	0	0	1	1122	871	31	1		1	ATP12A	13	25266644	Silent	SNP	C	TCGA-B0-4710-01A-01D-1501-10		25266644	89903234	55	7940											
DCAF11	80344	hgsc.bcm.edu;ucsc.edu	37	14	24590696	24590697	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr14:24590696_24590697insAC	ENST00000446197.3	+	13	2096_2097	c.1369_1370insAC	c.(1369-1371)tacfs	p.Y457fs	RP11-468E2.6_ENST00000558325.1_Frame_Shift_Ins_p.Q47fs|DCAF11_ENST00000396941.4_Frame_Shift_Ins_p.Y431fs|DCAF11_ENST00000559115.1_Frame_Shift_Ins_p.Y457fs|DCAF11_ENST00000396936.1_Frame_Shift_Ins_p.Y357fs	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	457					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GCAGTTCATCTACAGTGGCTGC	0.574																																																0																																										SO:0001589	frameshift_variant	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1370_1371dupAC	14.37:g.24590697_24590698dupAC	ENSP00000415556:p.Tyr457fs		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Frame_Shift_Ins	INS	ENST00000446197.3	37	CCDS9610.1																																																																																				0.574	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			AC	24590697	-	AC	24590696	7	5	132	1	0	1	1	0	0	0	0	0	4264	1522	53	0	1415	0	DCAF11	14	24590696	Frame_Shift_Ins	INS	-	TCGA-B0-4710-01A-01D-1501-10		24590696	82758844	56	7941											
AHNAK2	113146	broad.mit.edu;ucsc.edu	37	14	105420074	105420074	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr14:105420074C>T	ENST00000333244.5	-	7	1833	c.1714G>A	c.(1714-1716)Ggc>Agc	p.G572S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	572						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G572S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTCCCTGCCCTTGTCCTGT	0.527																																																1	Substitution - Missense(1)	kidney(1)											338	355	349					14																	105420074		2152	4251	6403	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1714G>A	14.37:g.105420074C>T	ENSP00000353114:p.Gly572Ser		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	12.24	1.877341	0.33162	.	.	ENSG00000185567	ENST00000333244	T	0.01145	5.27	4.83	-5.45	0.02616	.	.	.	.	.	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.47433	-0.9118	9	0.13108	T	0.6	.	7.8066	0.29206	0.0:0.2917:0.407:0.3013	.	572	Q8IVF2	AHNK2_HUMAN	S	572	ENSP00000353114:G572S	ENSP00000353114:G572S	G	-	1	0	AHNAK2	104491119	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	-1.581000	0.01642	-0.379000	0.06801	GGC		0.527	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105420074	C	T	105420074	3	4	132	1	0	0	0	0	1	0	0	0	415	623	22	2	15677	2	AHNAK2	14	105420074	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	80829378	105420074	1929466	57	7942											
JAG2	3714	broad.mit.edu	37	14	105618587	105618587	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr14:105618587A>G	ENST00000331782.3	-	6	1233	c.830T>C	c.(829-831)gTc>gCc	p.V277A	JAG2_ENST00000347004.2_Missense_Mutation_p.V277A|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	277	EGF-like 2; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.V277A(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGGTAGGGGACACACTCATC	0.632																																																1	Substitution - Missense(1)	kidney(1)											64	51	56					14																	105618587		2202	4300	6502	SO:0001583	missense	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.830T>C	14.37:g.105618587A>G	ENSP00000328169:p.Val277Ala		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651208	0.47362	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;T	0.54479	0.57;0.57	3.49	3.49	0.39957	Epidermal growth factor-like (1);	0.382580	0.23512	U	0.047400	T	0.60392	0.2265	M	0.62209	1.925	0.34836	D	0.740179	P;D	0.55800	0.868;0.973	P;P	0.56042	0.79;0.633	T	0.70051	-0.4978	10	0.42905	T	0.14	.	10.254	0.43385	1.0:0.0:0.0:0.0	.	277;277	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	A	277	ENSP00000328169:V277A;ENSP00000328566:V277A	ENSP00000328169:V277A	V	-	2	0	JAG2	104689632	0.032000	0.19561	0.945000	0.38365	0.157000	0.22087	2.894000	0.48640	1.353000	0.45828	0.255000	0.18592	GTC		0.632	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			G	105618587	A	G	105618587	3	3	132	1	0	0	0	0	1	0	0	0	7937	275	10	3	2970	3	JAG2	14	105618587	Missense_Mutation	SNP	A	TCGA-B0-4710-01A-01D-1501-10	198513	105618587	1730953	58	7943											
BRF1	2972	hgsc.bcm.edu;ucsc.edu	37	14	105684036	105684049	+	Frame_Shift_Del	DEL	ATTGATCTTGCTGG	ATTGATCTTGCTGG	-	rs200027756		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	ATTGATCTTGCTGG	ATTGATCTTGCTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr14:105684036_105684049delATTGATCTTGCTGG	ENST00000546474.1	-	15	16563_16576	c.1604_1617delCCAGCAAGATCAAT	c.(1603-1617)tccagcaagatcaatfs	p.SSKIN535fs	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000547530.1_Frame_Shift_Del_p.SSKIN61fs|BRF1_ENST00000327359.3_Frame_Shift_Del_p.SSKIN420fs|BRF1_ENST00000379937.2_Frame_Shift_Del_p.SSKIN508fs|BRF1_ENST00000392557.4_Frame_Shift_Del_p.SSKIN331fs|BRF1_ENST00000446501.2_Frame_Shift_Del_p.SSKIN297fs|BRF1_ENST00000440513.3_Frame_Shift_Del_p.SSKIN442fs|BRF1_ENST00000379932.4_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	535					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCACGCTATAATTGATCTTGCTGGAGATCTTCTT	0.607																																																0																																										SO:0001589	frameshift_variant	2972			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1604_1617delCCAGCAAGATCAAT	14.37:g.105684036_105684049delATTGATCTTGCTGG	ENSP00000448323:p.Ser535fs		B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Frame_Shift_Del	DEL	ENST00000546474.1	37	CCDS10001.1																																																																																				0.607	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		-	105684049	ATTGATCTTGCTGG	-	105684036	7	5	132	1	0	1	0	1	0	0	0	0	1512	98	4	0	432	0	BRF1	14	105684036	Frame_Shift_Del	DEL	ATTGATCTTGCTGG	TCGA-B0-4710-01A-01D-1501-10	65449	105684036	1665504	59	7944											
ULK3	25989	hgsc.bcm.edu	37	15	75134624	75134624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr15:75134624delA	ENST00000440863.2	-	2	331	c.240delT	c.(238-240)tttfs	p.F80fs	ULK3_ENST00000568667.1_Frame_Shift_Del_p.F91fs|ULK3_ENST00000569437.1_Frame_Shift_Del_p.F80fs	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						CTCACACCTGAAAGTCTTTCA	0.562																																																0													100	102	101					15																	75134624		1988	4158	6146	SO:0001589	frameshift_variant	25989			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.240delT	15.37:g.75134624delA	ENSP00000400312:p.Phe80fs		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Frame_Shift_Del	DEL	ENST00000440863.2	37	CCDS45305.1																																																																																				0.562	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		-	75134624	A	-	75134624	7	5	132	1	0	1	0	1	0	0	0	0	16982	243	9	0	1238	0	ULK3	15	75134624	Frame_Shift_Del	DEL	A	TCGA-B0-4710-01A-01D-1501-10		75134624	27396768	60	7945											
SLC16A11	162515	broad.mit.edu	37	17	6946682	6946682	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:6946682delG	ENST00000308009.1	-	1	560	c.223delC	c.(223-225)cagfs	p.Q75fs	SLC16A11_ENST00000447225.1_Frame_Shift_Del_p.Q51fs	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	75					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GCAGTGTCCTGGGCGCTTCGG	0.701																																																0													18	19	19					17																	6946682		2193	4281	6474	SO:0001589	frameshift_variant	162515			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.223delC	17.37:g.6946682delG	ENSP00000310490:p.Gln75fs			Frame_Shift_Del	DEL	ENST00000308009.1	37	CCDS11086.1																																																																																				0.701	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		-	6946682	G	-	6946682	7	5	132	1	0	1	0	1	0	0	0	0	14410	1357	47	0	1208	0	SLC16A11	17	6946682	Frame_Shift_Del	DEL	G	TCGA-B0-4710-01A-01D-1501-10		6946682	74248528	61	7946											
TP53	7157	broad.mit.edu;ucsc.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T	rs587778720		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:7578211C>T	ENST00000269305.4	-	6	827	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_ENST00000359597.4_Missense_Mutation_p.R213Q|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R213Q|TP53_ENST00000455263.2_Missense_Mutation_p.R213Q|TP53_ENST00000445888.2_Missense_Mutation_p.R213Q	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	CACACTATGTCGAAAAGTGTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	110	Substitution - Missense(85)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Complex - compound substitution(1)	prostate(15)|large_intestine(14)|urinary_tract(9)|liver(9)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(6)|stomach(6)|oesophagus(6)|kidney(5)|lung(5)|central_nervous_system(4)|ovary(4)|pancreas(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|eye(2)|vulva(1)|endometrium(1)|skin(1)|breast(1)	GRCh37	CM004906|CM022474	TP53	M							132	118	122					17																	7578211		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.638G>A	17.37:g.7578211C>T	ENSP00000269305:p.Arg213Gln		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	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	37	6.233765	0.97399	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.28	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	N	0.000003	D	0.99871	0.9939	M	0.92507	3.315	0.50039	D	0.999845	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;0.993;0.996;1.0;0.995;0.994;0.999	D	0.96662	0.9490	10	0.87932	D	0	-7.5444	11.7807	0.52013	0.0:0.9141:0.0:0.0859	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213Q;ENSP00000352610:R213Q;ENSP00000269305:R213Q;ENSP00000398846:R213Q;ENSP00000391127:R213Q;ENSP00000391478:R213Q;ENSP00000425104:R81Q;ENSP00000423862:R120Q	ENSP00000269305:R213Q	R	-	2	0	TP53	7518936	0.996000	0.38824	0.185000	0.23176	0.961000	0.63080	7.775000	0.85489	1.367000	0.46095	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7578211	C	T	7578211	3	4	132	1	0	0	0	0	1	0	0	0	16386	884	31	1	656	1	TP53	17	7578211	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	631529	7578211	73616999	62	7947											
CCDC42	146849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8638483	8638483	+	Missense_Mutation	SNP	C	C	A	rs147736220	byFrequency	TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:8638483C>A	ENST00000293845.3	-	6	1030	c.804G>T	c.(802-804)caG>caT	p.Q268H	CCDC42_ENST00000539522.2_Missense_Mutation_p.Q194H	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	268								p.Q268H(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TGCTCACGATCTGGAAGAGGT	0.602																																																1	Substitution - Missense(1)	kidney(1)											128	104	112					17																	8638483		2203	4300	6503	SO:0001583	missense	146849			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.804G>T	17.37:g.8638483C>A	ENSP00000293845:p.Gln268His		Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560654	0.65538	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.29142	1.66;1.58	5.11	4.08	0.47627	.	0.000000	0.53938	D	0.000048	T	0.48768	0.1518	L	0.59436	1.845	0.33089	D	0.537621	D	0.76494	0.999	D	0.79784	0.993	T	0.57476	-0.7805	10	0.46703	T	0.11	-41.4642	12.6809	0.56922	0.0:0.9066:0.0:0.0934	.	268	Q96M95	CCD42_HUMAN	H	268;194	ENSP00000293845:Q268H;ENSP00000444359:Q194H	ENSP00000293845:Q268H	Q	-	3	2	CCDC42	8579208	0.818000	0.29161	1.000000	0.80357	0.995000	0.86356	1.303000	0.33470	2.666000	0.90696	0.655000	0.94253	CAG		0.602	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		A	8638483	C	A	8638483	3	1	132	1	0	0	0	0	1	0	0	0	2816	912	32	4	154	4	CCDC42	17	8638483	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	1060272	8638483	72556727	63	7948											
SCO1	6341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10596183	10596183	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:10596183C>G	ENST00000255390.5	-	3	520	c.460G>C	c.(460-462)Gac>Cac	p.D154H	SCO1_ENST00000577427.1_Missense_Mutation_p.D154H|SCO1_ENST00000582053.1_5'Flank	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	154					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)	p.D154H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CCCAAGTAGTCCTTGTCAGTT	0.448																																					Melanoma(128;591 1731 19711 31891 44645)											1	Substitution - Missense(1)	kidney(1)											115	97	103					17																	10596183		2203	4300	6503	SO:0001583	missense	6341			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"Mitochondrial respiratory chain complex assembly factors"	10603	protein-coding gene	gene with protein product		603644	"SCO (cytochrome oxidase deficient, yeast) homolog 1", "SCO cytochrome oxidase deficient homolog 1 (yeast)"	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.460G>C	17.37:g.10596183C>G	ENSP00000255390:p.Asp154His		B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632151	0.87660	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.90385	-2.66	6.08	6.08	0.98989	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.96679	0.8916	H	0.95982	3.75	0.80722	D	1	P;P	0.51351	0.944;0.851	P;P	0.61275	0.708;0.886	D	0.97222	0.9878	10	0.72032	D	0.01	-31.5468	16.8679	0.86033	0.0:0.872:0.128:0.0	.	154;154	A8MY34;O75880	.;SCO1_HUMAN	H	154	ENSP00000255390:D154H	ENSP00000255390:D154H	D	-	1	0	SCO1	10536908	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.702000	0.68332	2.894000	0.99253	0.591000	0.81541	GAC		0.448	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		G	10596183	C	G	10596183	3	3	132	1	0	0	0	0	1	0	0	0	13937	855	30	4	461	4	SCO1	17	10596183	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	1957700	10596183	70599027	64	7949											
MYO19	80179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34857066	34857066	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:34857066G>T	ENST00000431794.3	-	22	2612	c.2090C>A	c.(2089-2091)cCa>cAa	p.P697Q	MYO19_ENST00000268852.9_Missense_Mutation_p.P497Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	697	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P697Q(2)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCGCTGTGTGGACACCATTC	0.567																																																2	Substitution - Missense(2)	kidney(2)											58	60	59					17																	34857066		2124	4240	6364	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2090C>A	17.37:g.34857066G>T	ENSP00000409936:p.Pro697Gln		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	2.512	-0.312797	0.05422	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.89050	-2.22;-2.46	4.52	2.5	0.30297	Myosin head, motor domain (1);	0.374902	0.19507	N	0.112582	D	0.85796	0.5780	L	0.51422	1.61	0.18873	N	0.999983	B;P	0.44195	0.048;0.828	B;P	0.47705	0.031;0.555	T	0.74200	-0.3742	10	0.23302	T	0.38	.	6.2879	0.21043	0.2321:0.0:0.7679:0.0	.	697;497	Q96H55;Q96H55-4	MYO19_HUMAN;.	Q	697;497	ENSP00000409936:P697Q;ENSP00000268852:P497Q	ENSP00000268852:P497Q	P	-	2	0	MYO19	31931179	0.005000	0.15991	0.005000	0.12908	0.015000	0.08874	0.310000	0.19356	0.616000	0.30141	0.462000	0.41574	CCA		0.567	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		T	34857066	G	T	34857066	3	4	132	1	0	0	0	0	1	0	0	0	10069	1348	47	4	842	4	MYO19	17	34857066	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	24260883	34857066	46338144	65	7950											
EFTUD2	9343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42936450	42936450	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:42936450T>C	ENST00000426333.2	-	19	2257	c.1960A>G	c.(1960-1962)Aag>Gag	p.K654E	EFTUD2_ENST00000592576.1_Missense_Mutation_p.K644E|EFTUD2_ENST00000591382.1_Missense_Mutation_p.K654E|EFTUD2_ENST00000402521.3_Missense_Mutation_p.K619E	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	654					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.K654E(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TGCTGTACCTTGATGTCTATC	0.522																																					Ovarian(10;65 485 10258 29980 30707)											1	Substitution - Missense(1)	kidney(1)											114	93	100					17																	42936450		2203	4300	6503	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1960A>G	17.37:g.42936450T>C	ENSP00000392094:p.Lys654Glu		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	T	34	5.314916	0.95655	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.71698	-0.59;-0.59	6.03	6.03	0.97812	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.86867	0.6036	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89173	0.3538	10	0.87932	D	0	-12.7297	16.5582	0.84512	0.0:0.0:0.0:1.0	.	644;654	B4DMC0;Q15029	.;U5S1_HUMAN	E	654;644;619	ENSP00000392094:K654E;ENSP00000385873:K619E	ENSP00000262414:K644E	K	-	1	0	EFTUD2	40291976	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	AAG		0.522	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		C	42936450	T	C	42936450	3	2	132	1	0	0	0	0	1	0	0	0	4963	1821	63	3	998	3	EFTUD2	17	42936450	Missense_Mutation	SNP	T	TCGA-B0-4710-01A-01D-1501-10	8079384	42936450	38258760	66	7951											
DNAH17	8632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76491993	76491993	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr17:76491993C>T	ENST00000585328.1	-	38	5976	c.5852G>A	c.(5851-5853)cGc>cAc	p.R1951H	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.R1942H|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17-AS1_ENST00000598378.1_5'Flank	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1942	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1951H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCTCCGCGCGTCCGGCGTA	0.557																																																1	Substitution - Missense(1)	kidney(1)											93	94	93					17																	76491993		2062	4237	6299	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5852G>A	17.37:g.76491993C>T	ENSP00000465516:p.Arg1951His		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	c	18.71	3.682614	0.68157	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.15017	2.46	4.49	4.49	0.54785	.	.	.	.	.	T	0.57902	0.2085	H	0.96748	3.875	0.50313	D	0.999865	.	.	.	.	.	.	T	0.74910	-0.3503	7	0.87932	D	0	.	17.7846	0.88533	0.0:1.0:0.0:0.0	.	.	.	.	H	1951;1942	ENSP00000374490:R1942H	ENSP00000300671:R1951H	R	-	2	0	DNAH17	74003588	1.000000	0.71417	0.963000	0.40424	0.030000	0.12068	7.472000	0.80996	2.501000	0.84356	0.537000	0.68136	CGC		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76491993	C	T	76491993	3	4	132	1	0	0	0	0	1	0	0	0	4603	768	27	1	7697	1	DNAH17	17	76491993	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	33555543	76491993	4703217	67	7952											
WDR18	57418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	994289	994289	+	Silent	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:994289C>T	ENST00000251289.5	+	10	1268	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	WDR18_ENST00000587001.2_Silent_p.I392I	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	415					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I415I(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGCAAGATCAATCGGGACC	0.697																																																1	Substitution - coding silent(1)	kidney(1)											69	52	58					19																	994289		2200	4298	6498	SO:0001819	synonymous_variant	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.1245C>T	19.37:g.994289C>T			O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																				0.697	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			T	994289	C	T	994289	2	4	132	1	0	0	0	0	0	0	0	1	17283	816	29	2		2	WDR18	19	994289	Silent	SNP	C	TCGA-B0-4710-01A-01D-1501-10		994289	58134694	68	7953											
IFI30	10437	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18286174	18286174	+	Silent	SNP	G	G	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:18286174G>A	ENST00000407280.3	+	3	544	c.369G>A	c.(367-369)gaG>gaA	p.E123E	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	123					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 II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)	p.E123E(1)		endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GAGAAGAGGAGTGCAAATTCA	0.597																																																1	Substitution - coding silent(1)	kidney(1)											43	45	44					19																	18286174		2027	4170	6197	SO:0001819	synonymous_variant	10437			J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"gamma-interferon-inducible lysosomal thiol reductase", "interferon gamma-inducible protein 30 preproprotein"	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.369G>A	19.37:g.18286174G>A			Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Silent	SNP	ENST00000407280.3	37	CCDS46015.1																																																																																				0.597	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		A	18286174	G	A	18286174	2	1	132	1	0	0	0	0	0	0	0	1	7517	1020	36	2		2	IFI30	19	18286174	Silent	SNP	G	TCGA-B0-4710-01A-01D-1501-10	17291885	18286174	40842809	69	7954											
ARMC6	93436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19166161	19166161	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:19166161G>C	ENST00000535612.1	+	7	1543	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q	ARMC6_ENST00000546344.1_Missense_Mutation_p.E278Q|ARMC6_ENST00000392336.3_Missense_Mutation_p.E371Q|ARMC6_ENST00000392335.2_Missense_Mutation_p.E346Q|ARMC6_ENST00000269932.6_Missense_Mutation_p.E346Q	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	371					hematopoietic progenitor cell differentiation (GO:0002244)			p.E346Q(1)|p.E371Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGGTGGGACGGAGTCCATCGT	0.612																																																2	Substitution - Missense(2)	kidney(2)											115	90	98					19																	19166161		2203	4300	6503	SO:0001583	missense	93436			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1111G>C	19.37:g.19166161G>C	ENSP00000444156:p.Glu371Gln		B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.52|10.52	1.373592|1.373592	0.24857|0.24857	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336|ENST00000535478;ENST00000535795	T;T;T;T;T|.	0.50813|.	0.73;0.73;0.73;0.73;0.73|.	4.88|4.88	2.55|2.55	0.30701|0.30701	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.388275|.	0.28135|.	N|.	0.016475|.	T|T	0.32941|0.32941	0.0846|0.0846	N|N	0.17800|0.17800	0.525|0.525	0.30168|0.30168	N|N	0.801591|0.801591	B|.	0.26002|.	0.139|.	B|.	0.21917|.	0.037|.	T|T	0.29150|0.29150	-1.0021|-1.0021	10|5	0.20519|.	T|.	0.43|.	-19.4361|-19.4361	13.8085|13.8085	0.63248|0.63248	0.0:0.2911:0.7089:0.0|0.0:0.2911:0.7089:0.0	.|.	371|.	Q6NXE6|.	ARMC6_HUMAN|.	Q|A	346;371;346;278;282;371|60;34	ENSP00000376147:E346Q;ENSP00000444156:E371Q;ENSP00000269932:E346Q;ENSP00000444341:E278Q;ENSP00000376148:E371Q|.	ENSP00000269932:E346Q|.	E|G	+|+	1|2	0|0	ARMC6|ARMC6	19027161|19027161	0.954000|0.954000	0.32549|0.32549	0.686000|0.686000	0.30086|0.30086	0.351000|0.351000	0.29236|0.29236	2.588000|2.588000	0.46137|0.46137	1.035000|1.035000	0.39972|0.39972	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.612	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		C	19166161	G	C	19166161	3	2	132	1	0	0	0	0	1	0	0	0	955	1175	41	4	1054	4	ARMC6	19	19166161	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	879987	19166161	39962822	70	7955											
CCNE1	898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	30303636	30303637	+	Missense_Mutation	DNP	GC	GC	CT	rs578227778		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:30303636_30303637GC>CT	ENST00000262643.3	+	3	343_344	c.64_65GC>CT	c.(64-66)GCg>CTg	p.A22L	CCNE1_ENST00000357943.5_Missense_Mutation_p.A22L|CCNE1_ENST00000444983.2_Missense_Mutation_p.A7L	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	22					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)	p.A22V(1)|p.A22P(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GGACGGCGGCGCGGAGTTCTCG	0.673			A		serous ovarian																																		Dom	yes		19	19q12	898	cyclin E1		E	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	898			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"cyclin Es", "cyclin Et"	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	Exception_encountered	19.37:g.30303636_30303637delinsCT	ENSP00000262643:p.Ala22Leu		A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	CCDS12419.1																																																																																				0.673	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		CT	30303637	GC	CT	30303636	3	2	132	1	0	0	0	0	1	0	0	0	2922	1087	38	4	70	4	CCNE1	19	30303636	Missense_Mutation	DNP	GC	TCGA-B0-4710-01A-01D-1501-10	11137475	30303636	28825347	71	7956											
ZNF607	84775	hgsc.bcm.edu;ucsc.edu	37	19	38189521	38189521	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:38189521delG	ENST00000355202.4	-	5	2106	c.1511delC	c.(1510-1512)cctfs	p.P504fs	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Frame_Shift_Del_p.P503fs	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ACATTCATAAGGTTTCTCACC	0.403																																																0													99	95	96					19																	38189521		2203	4300	6503	SO:0001589	frameshift_variant	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1511delC	19.37:g.38189521delG	ENSP00000347338:p.Pro504fs		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Frame_Shift_Del	DEL	ENST00000355202.4	37	CCDS33006.1																																																																																				0.403	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		-	38189521	G	-	38189521	7	5	132	1	0	1	0	1	0	0	0	0	18038	1000	35	0	583	0	ZNF607	19	38189521	Frame_Shift_Del	DEL	G	TCGA-B0-4710-01A-01D-1501-10	7885885	38189521	20939462	72	7957											
ZNF221	7638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44470618	44470618	+	Silent	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:44470618A>C	ENST00000251269.5	+	6	1292	c.964A>C	c.(964-966)Aga>Cga	p.R322R	ZNF221_ENST00000592350.1_Silent_p.R322R|ZNF221_ENST00000587682.1_Silent_p.R322R	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R322R(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTTCCGTGTTAGATCAAGACT	0.403																																																1	Substitution - coding silent(1)	kidney(1)											168	166	166					19																	44470618		2203	4300	6503	SO:0001819	synonymous_variant	7638			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.964A>C	19.37:g.44470618A>C			B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	ENST00000251269.5	37	CCDS12633.1																																																																																				0.403	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			C	44470618	A	C	44470618	2	2	132	1	0	0	0	0	0	0	0	1	17780	412	15	5		5	ZNF221	19	44470618	Silent	SNP	A	TCGA-B0-4710-01A-01D-1501-10	6281097	44470618	14658365	73	7958											
MYH14	79784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50812921	50812921	+	Silent	SNP	C	C	G			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:50812921C>G	ENST00000596571.1	+	40	5862	c.5862C>G	c.(5860-5862)acC>acG	p.T1954T	CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000440075.2_Silent_p.T1995T|MYH14_ENST00000262269.8_Silent_p.T1995T|MYH14_ENST00000425460.1_Silent_p.T1962T|MYH14_ENST00000376970.2_Silent_p.T1987T|MYH14_ENST00000601313.1_Silent_p.T1995T|MYH14_ENST00000598205.1_Silent_p.T1962T			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1954					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T1995T(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCTTCACCACCCGCACGGTGC	0.657																																																1	Substitution - coding silent(1)	kidney(1)											23	25	24					19																	50812921		1986	4157	6143	SO:0001819	synonymous_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5862C>G	19.37:g.50812921C>G			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																				0.657	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		G	50812921	C	G	50812921	2	3	132	1	0	0	0	0	0	0	0	1	10035	610	22	4		4	MYH14	19	50812921	Silent	SNP	C	TCGA-B0-4710-01A-01D-1501-10	6342303	50812921	8316062	74	7959											
LILRA2	11027	broad.mit.edu;ucsc.edu	37	19	55085835	55085835	+	Silent	SNP	C	C	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:55085835C>A	ENST00000251377.3	+	4	271	c.138C>A	c.(136-138)acC>acA	p.T46T	LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Silent_p.T46T|LILRA2_ENST00000251376.3_Silent_p.T46T|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.T34T|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	46	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.T46T(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTCCTGTGACCCTCAGGTGTC	0.542																																																1	Substitution - coding silent(1)	kidney(1)											94	96	95					19																	55085835		2203	4300	6503	SO:0001819	synonymous_variant	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.138C>A	19.37:g.55085835C>A			O75020	Silent	SNP	ENST00000251377.3	37	CCDS46179.1																																																																																				0.542	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			A	55085835	C	A	55085835	2	1	132	1	0	0	0	0	0	0	0	1	8787	610	22	4		4	LILRA2	19	55085835	Silent	SNP	C	TCGA-B0-4710-01A-01D-1501-10	4272914	55085835	4043148	75	7960											
FCAR	2204	broad.mit.edu;hgsc.bcm.edu	37	19	55396904	55396904	+	Missense_Mutation	SNP	C	C	T	rs143972917		TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:55396904C>T	ENST00000355524.3	+	3	338	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	FCAR_ENST00000391724.3_Missense_Mutation_p.R98W|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391726.3_Missense_Mutation_p.R98W|FCAR_ENST00000469767.1_Missense_Mutation_p.R110W|FCAR_ENST00000359272.4_Missense_Mutation_p.R98W|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.R110W|FCAR_ENST00000391723.3_Missense_Mutation_p.R98W|FCAR_ENST00000345937.4_Missense_Mutation_p.R110W	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	110					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R110W(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CTACAGATTCCGGTACAGTGA	0.458																																																2	Substitution - Missense(2)	kidney(2)						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	68	62	64		328,328,328,292,292,292,,292,328	-2.3	0	19	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,intron,missense,missense	FCAR	NM_002000.2,NM_133269.2,NM_133271.2,NM_133272.2,NM_133273.2,NM_133274.2,NM_133277.2,NM_133278.2,NM_133279.2	101,101,101,101,101,101,,101,101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging,probably-damaging	110/288,110/266,110/192,98/276,98/180,98/210,,98/254,110/240	55396904	2,13004	2203	4300	6503	SO:0001583	missense	2204			X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.328C>T	19.37:g.55396904C>T	ENSP00000347714:p.Arg110Trp		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205053	0.38905	2.27E-4	1.16E-4	ENSG00000186431	ENST00000433231;ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000359272;ENST00000391723;ENST00000391724	T;T;T;T;T;T;T	0.12774	2.75;2.65;2.65;2.75;2.65;2.65;2.65	3.18	-2.27	0.06846	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.454240	0.02391	N	0.079716	T	0.26159	0.0638	L	0.44542	1.39	0.09310	N	1	P;D;D;D;D;D;D;D	0.89917	0.522;1.0;1.0;0.998;0.999;1.0;0.998;1.0	B;P;D;P;D;P;P;D	0.64042	0.074;0.894;0.915;0.789;0.921;0.886;0.789;0.913	T	0.34650	-0.9820	10	0.87932	D	0	.	7.5722	0.27915	0.1153:0.5927:0.292:0.0	.	98;98;98;98;110;110;110;110	Q92588;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071;P24071-4	.;.;.;.;.;.;FCAR_HUMAN;.	W	110;98;110;110;110;98;98;98	ENSP00000375606:R98W;ENSP00000347714:R110W;ENSP00000375605:R110W;ENSP00000338257:R110W;ENSP00000352218:R98W;ENSP00000375603:R98W;ENSP00000375604:R98W	ENSP00000338257:R110W	R	+	1	2	FCAR	60088716	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.219000	0.02973	-0.278000	0.09180	-0.310000	0.09108	CGG		0.458	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		T	55396904	C	T	55396904	3	4	132	1	0	0	0	0	1	0	0	0	5775	643	23	1	338	1	FCAR	19	55396904	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	311069	55396904	3732079	76	7961											
NLRP5	126206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56552314	56552314	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr19:56552314C>T	ENST00000390649.3	+	11	2813	c.2813C>T	c.(2812-2814)aCg>aTg	p.T938M		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	938					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.T938M(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ATCACAGCCACGGGTTGCCAG	0.537																																																1	Substitution - Missense(1)	kidney(1)											73	72	72					19																	56552314		2006	4191	6197	SO:0001583	missense	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2813C>T	19.37:g.56552314C>T	ENSP00000375063:p.Thr938Met		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101867	0.37048	.	.	ENSG00000171487	ENST00000390649	T	0.53640	0.61	4.37	-1.11	0.09840	.	1.358130	0.05646	N	0.584366	T	0.47507	0.1449	L	0.38838	1.175	0.09310	N	1	D	0.65815	0.995	P	0.57911	0.829	T	0.36504	-0.9745	10	0.62326	D	0.03	.	1.5208	0.02515	0.1632:0.4646:0.1594:0.2128	.	938	P59047	NALP5_HUMAN	M	938	ENSP00000375063:T938M	ENSP00000375063:T938M	T	+	2	0	NLRP5	61244126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.316000	0.08071	-0.152000	0.11156	-1.087000	0.02190	ACG		0.537	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56552314	C	T	56552314	3	4	132	1	0	0	0	0	1	0	0	0	10482	536	19	1	2855	1	NLRP5	19	56552314	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10	1155410	56552314	2576669	77	7962											
PLCB4	5332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	9382178	9382178	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chr20:9382178A>C	ENST00000378493.1	+	17	1567	c.1552A>C	c.(1552-1554)Aat>Cat	p.N518H	PLCB4_ENST00000278655.4_Missense_Mutation_p.N518H|PLCB4_ENST00000334005.3_Missense_Mutation_p.N518H|PLCB4_ENST00000414679.2_Missense_Mutation_p.N518H|PLCB4_ENST00000378473.3_Missense_Mutation_p.N518H|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.N518H			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	518					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.N518H(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAAATTTGGAAATGAACTTTC	0.458																																																1	Substitution - Missense(1)	kidney(1)											67	61	63					20																	9382178		2203	4300	6503	SO:0001583	missense	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1552A>C	20.37:g.9382178A>C	ENSP00000367754:p.Asn518His		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338313	0.60963	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.22743	2.17;2.14;2.17;2.17;2.17;1.94	6.08	6.08	0.98989	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.714986	0.15119	N	0.279521	T	0.20820	0.0501	N	0.22421	0.69	0.32142	N	0.585406	B;P;B;B	0.37708	0.127;0.606;0.042;0.084	B;B;B;B	0.40285	0.237;0.325;0.037;0.115	T	0.15235	-1.0444	10	0.52906	T	0.07	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	518;365;518;518	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	H	518;518;518;518;518;354	ENSP00000334105:N518H;ENSP00000367734:N518H;ENSP00000278655:N518H;ENSP00000367754:N518H;ENSP00000367762:N518H;ENSP00000390616:N354H	ENSP00000278655:N518H	N	+	1	0	PLCB4	9330178	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	3.661000	0.54503	2.333000	0.79357	0.533000	0.62120	AAT		0.458	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			C	9382178	A	C	9382178	3	2	132	1	0	0	0	0	1	0	0	0	12032	14	1	5	1618	5	PLCB4	20	9382178	Missense_Mutation	SNP	A	TCGA-B0-4710-01A-01D-1501-10		9382178	53643342	78	7963											
MAOA	4128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	43571201	43571201	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:43571201C>T	ENST00000338702.3	+	4	512	c.389C>T	c.(388-390)aCa>aTa	p.T130I	MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	130					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)	p.T130I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	CTGTGGAGGACAATAGATAAC	0.393																																																1	Substitution - Missense(1)	kidney(1)											135	124	128					X																	43571201		2203	4300	6503	SO:0001583	missense	4128				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.389C>T	X.37:g.43571201C>T	ENSP00000340684:p.Thr130Ile		B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578248	0.28180	.	.	ENSG00000189221	ENST00000338702	D	0.92249	-3.0	5.48	4.59	0.56863	Amine oxidase (1);	0.144865	0.64402	D	0.000008	D	0.91043	0.7182	M	0.66439	2.03	0.80722	D	1	B	0.30104	0.268	B	0.32583	0.148	D	0.88482	0.3069	10	0.45353	T	0.12	.	14.5407	0.67990	0.1475:0.8525:0.0:0.0	.	130	P21397	AOFA_HUMAN	I	130	ENSP00000340684:T130I	ENSP00000340684:T130I	T	+	2	0	MAOA	43456145	1.000000	0.71417	0.984000	0.44739	0.113000	0.19764	3.859000	0.55987	1.025000	0.39708	0.508000	0.49915	ACA		0.393	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		T	43571201	C	T	43571201	3	4	132	1	0	0	0	0	1	0	0	0	9227	478	17	2	403	2	MAOA	23	43571201	Missense_Mutation	SNP	C	TCGA-B0-4710-01A-01D-1501-10		43571201	111699359	79	7964											
ZMYM3	9203	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	70467240	70467240	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:70467240G>T	ENST00000353904.2	-	13	2456	c.2269C>A	c.(2269-2271)Caa>Aaa	p.Q757K	ZMYM3_ENST00000373998.1_Missense_Mutation_p.Q757K|ZMYM3_ENST00000314425.5_Missense_Mutation_p.Q757K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.Q759K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.Q759K|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	757					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q757K(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGGTTGGGTTGGTTCTGCTGG	0.577																																																1	Substitution - Missense(1)	kidney(1)											57	45	49					X																	70467240		2202	4300	6502	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2269C>A	X.37:g.70467240G>T	ENSP00000343909:p.Gln757Lys		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	14.61	2.586623	0.46110	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.43294	1.54;0.95;1.54;1.54;1.54	5.16	5.16	0.70880	.	0.082793	0.51477	N	0.000083	T	0.44498	0.1296	L	0.44542	1.39	0.46849	D	0.999225	P;P	0.37573	0.56;0.6	P;B	0.47015	0.534;0.333	T	0.16217	-1.0410	10	0.07813	T	0.8	-7.5565	17.8553	0.88761	0.0:0.0:1.0:0.0	.	757;757	Q14202-2;Q14202	.;ZMYM3_HUMAN	K	757;757;757;759;759	ENSP00000322845:Q757K;ENSP00000363110:Q757K;ENSP00000343909:Q757K;ENSP00000363096:Q759K;ENSP00000363100:Q759K	ENSP00000322845:Q757K	Q	-	1	0	ZMYM3	70383965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.335000	0.65929	2.405000	0.81733	0.529000	0.55759	CAA		0.577	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		T	70467240	G	T	70467240	3	4	132	1	0	0	0	0	1	0	0	0	17706	1357	47	4	1895	4	ZMYM3	23	70467240	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	26896039	70467240	84803320	80	7965											
PABPC5	140886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	90691460	90691460	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:90691460A>C	ENST00000312600.3	+	2	1098	c.884A>C	c.(883-885)gAa>gCa	p.E295A	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.E131A	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	295						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E295A(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGGTTAAAAGAAAAAAGTCGG	0.438																																																1	Substitution - Missense(1)	kidney(1)											31	33	32					X																	90691460		2202	4297	6499	SO:0001583	missense	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.884A>C	X.37:g.90691460A>C	ENSP00000308012:p.Glu295Ala		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644760	0.29246	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.22743	1.99;1.94	4.14	4.14	0.48551	.	0.207646	0.49305	D	0.000146	T	0.05410	0.0143	N	0.00621	-1.32	0.40687	D	0.982362	B	0.30889	0.299	B	0.17098	0.017	T	0.27297	-1.0078	10	0.41790	T	0.15	.	8.6145	0.33822	1.0:0.0:0.0:0.0	.	295	Q96DU9	PABP5_HUMAN	A	131;295;263	ENSP00000362197:E131A;ENSP00000308012:E295A	ENSP00000308012:E295A	E	+	2	0	PABPC5	90578116	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.306000	0.72810	1.854000	0.53819	0.430000	0.28490	GAA		0.438	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		C	90691460	A	C	90691460	3	2	132	1	0	0	0	0	1	0	0	0	11369	246	9	5	886	5	PABPC5	23	90691460	Missense_Mutation	SNP	A	TCGA-B0-4710-01A-01D-1501-10	20224220	90691460	64579100	81	7966											
RPA4	29935	broad.mit.edu;hgsc.bcm.edu	37	X	96139817	96139817	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:96139817A>T	ENST00000373040.3	+	1	911	c.508A>T	c.(508-510)Aaa>Taa	p.K170*	DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	170					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.K170*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GATGCTGGATAAAGCCCGTCG	0.458								Other identified genes with known or suspected DNA repair function																																								1	Substitution - Nonsense(1)	kidney(1)											142	112	122					X																	96139817		2203	4300	6503	SO:0001587	stop_gained	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.508A>T	X.37:g.96139817A>T	ENSP00000362131:p.Lys170*		Q3SY03	Nonsense_Mutation	SNP	ENST00000373040.3	37	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	A	37	6.023423	0.97211	.	.	ENSG00000204086	ENST00000373040	.	.	.	3.66	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.5884	6.4038	0.21652	0.6468:0.3532:0.0:0.0	.	.	.	.	X	170	.	ENSP00000362131:K170X	K	+	1	0	RPA4	96026473	0.264000	0.24093	0.003000	0.11579	0.231000	0.25187	2.139000	0.42149	0.530000	0.28619	0.486000	0.48141	AAA		0.458	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		T	96139817	A	T	96139817	4	4	132	1	0	0	0	0	0	1	0	0	13545	363	13	5	510	5	RPA4	23	96139817	Nonsense_Mutation	SNP	A	TCGA-B0-4710-01A-01D-1501-10	5448357	96139817	59130743	82	7967											
ARMCX2	9823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	100912452	100912452	+	Silent	SNP	G	G	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:100912452G>A	ENST00000328766.5	-	5	576	c.123C>T	c.(121-123)ccC>ccT	p.P41P	ARMCX2_ENST00000356824.4_Silent_p.P41P|ARMCX2_ENST00000467416.1_5'UTR|ARMCX2_ENST00000330154.2_Silent_p.P41P	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	41						integral component of membrane (GO:0016021)		p.P41P(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						cccGGTTTTTGGGCTTGGCCA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											64	63	64					X																	100912452		2203	4300	6503	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.123C>T	X.37:g.100912452G>A			O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	CCDS14490.1																																																																																				0.587	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		A	100912452	G	A	100912452	2	1	132	1	0	0	0	0	0	0	0	1	960	1335	47	2		2	ARMCX2	23	100912452	Silent	SNP	G	TCGA-B0-4710-01A-01D-1501-10	4772635	100912452	54358108	83	7968											
MAGEC1	9947	broad.mit.edu;ucsc.edu	37	X	140996270	140996270	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:140996270G>C	ENST00000285879.4	+	4	3366	c.3080G>C	c.(3079-3081)gGg>gCg	p.G1027A	MAGEC1_ENST00000406005.2_Missense_Mutation_p.G94A	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1027	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.G1027A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGAATAGGGGTGCGTGCT	0.542										HNSCC(15;0.026)																																						1	Substitution - Missense(1)	kidney(1)											87	81	83					X																	140996270		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3080G>C	X.37:g.140996270G>C	ENSP00000285879:p.Gly1027Ala		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	7.976	0.750117	0.15778	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.08634	3.07;3.07	0.484	0.484	0.16825	.	.	.	.	.	T	0.32224	0.0822	M	0.93106	3.38	0.09310	N	1	D	0.71674	0.998	D	0.72075	0.976	T	0.04811	-1.0925	8	0.87932	D	0	.	.	.	.	.	1027	O60732	MAGC1_HUMAN	A	1027;94	ENSP00000285879:G1027A;ENSP00000385500:G94A	ENSP00000285879:G1027A	G	+	2	0	MAGEC1	140823936	0.001000	0.12720	0.032000	0.17829	0.232000	0.25224	0.410000	0.21098	0.491000	0.27793	0.279000	0.19357	GGG		0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		C	140996270	G	C	140996270	3	2	132	1	0	0	0	0	1	0	0	0	9182	1232	43	4	3086	4	MAGEC1	23	140996270	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	40083818	140996270	14274290	84	7969											
MAGEA10	4109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151303633	151303633	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:151303633G>T	ENST00000370323.4	-	4	776	c.460C>A	c.(460-462)Ccg>Acg	p.P154T	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P154T	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	154	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)		p.P154T(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTGATCGGCTCCTTCATT	0.443																																																1	Substitution - Missense(1)	kidney(1)											106	102	103					X																	151303633		2203	4300	6503	SO:0001583	missense	4109				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.460C>A	X.37:g.151303633G>T	ENSP00000359347:p.Pro154Thr			Missense_Mutation	SNP	ENST00000370323.4	37	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	3.717	-0.058390	0.07317	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.08546	3.34;3.34;3.34;3.08	2.68	-2.28	0.06826	.	0.342563	0.31301	N	0.007882	T	0.20780	0.0500	M	0.94021	3.485	0.09310	N	1	P	0.52170	0.951	P	0.56127	0.792	T	0.12811	-1.0533	10	0.51188	T	0.08	.	1.0168	0.01509	0.138:0.1873:0.2929:0.3818	.	154	P43363	MAGAA_HUMAN	T	154	ENSP00000359347:P154T;ENSP00000244096:P154T;ENSP00000406161:P154T;ENSP00000391977:P154T	ENSP00000244096:P154T	P	-	1	0	MAGEA10	151054289	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	0.387000	0.20718	-0.738000	0.04817	0.292000	0.19580	CCG		0.443	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		T	151303633	G	T	151303633	3	4	132	1	0	0	0	0	1	0	0	0	9166	1203	42	4	653	4	MAGEA10	23	151303633	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	10307363	151303633	3966927	85	7970											
F8	2157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	154194857	154194857	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4710-01A-01D-1501-10	TCGA-B0-4710-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4ab8d170-2b88-47a1-9a56-ec0007652446	a1ec1a7d-b4b7-42f9-84eb-94a3d23b4d81	g.chrX:154194857G>A	ENST00000360256.4	-	8	1315	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	372					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S372F(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCCATTTCAGAATCAGTAAG	0.398																																																2	Substitution - Missense(2)	kidney(2)											202	155	171					X																	154194857		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1115C>T	X.37:g.154194857G>A	ENSP00000353393:p.Ser372Phe		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772629	0.31411	.	.	ENSG00000185010	ENST00000360256	D	0.98835	-5.17	5.13	4.23	0.50019	.	0.964192	0.08594	N	0.922532	D	0.97993	0.9339	M	0.73962	2.25	0.09310	N	0.999999	P	0.45902	0.868	B	0.43052	0.406	D	0.93296	0.6672	10	0.72032	D	0.01	-0.3718	11.447	0.50129	0.0:0.0:0.6754:0.3245	.	372	P00451	FA8_HUMAN	F	372	ENSP00000353393:S372F	ENSP00000353393:S372F	S	-	2	0	F8	153848051	0.001000	0.12720	0.376000	0.26042	0.441000	0.31987	0.738000	0.26158	0.998000	0.38996	0.529000	0.55759	TCT		0.398	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			A	154194857	G	A	154194857	3	1	132	1	0	0	0	0	1	0	0	0	5352	942	33	2	6044	2	F8	23	154194857	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01D-1501-10	2891224	154194857	1075703	86	7971											
VHL	7428	hgsc.bcm.edu	37	3	10183776	10183776	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4710-01A-01W-1528-10	TCGA-B0-4710-11A-02W-1528-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	0a4d83b9-b7a5-4ab4-b9ca-92627f361b07	d71c3e47-a16b-4744-94f8-301369d6774b	g.chr3:10183776G>C	ENST00000256474.2	+	1	1085	c.245G>C	c.(244-246)cGc>cCc	p.R82P	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.R82P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	82			Missing (in VHLD).|R -> P (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R82P(4)|p.P81fs*49(2)|p.S72_V87>L(1)|p.R82fs*75(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.V83fs*48(1)|p.V74fs*77(1)|p.R82L(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCAGTCCGCGCGTCGTGCTG	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	13	Deletion - Frameshift(7)|Substitution - Missense(5)|Complex - deletion inframe(1)	kidney(12)|adrenal_gland(1)	GRCh37	CD941806|CM023994	VHL	D|M							12	15	14					3																	10183776		2160	4219	6379	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.245G>C	3.37:g.10183776G>C	ENSP00000256474:p.Arg82Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402333	0.96030	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99833	-7.03;-7.03	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.101946	0.64402	D	0.000001	D	0.99799	0.9914	M	0.80183	2.485	0.43787	D	0.996324	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97000	0.9728	10	0.72032	D	0.01	-8.5138	16.8166	0.85735	0.0:0.0:1.0:0.0	.	82;82	P40337-2;P40337	.;VHL_HUMAN	P	82	ENSP00000256474:R82P;ENSP00000344757:R82P	ENSP00000256474:R82P	R	+	2	0	VHL	10158776	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.961000	0.70356	2.558000	0.86282	0.550000	0.68814	CGC		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10183776	G	C	10183776	3	2	133	1	0	0	0	0	1	0	0	0	17167	1087	38	4	247	4	VHL	3	10183776	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01W-1528-10		10183776	187838654	1	7972											
KDM5C	8242	hgsc.bcm.edu	37	X	53222460	53222460	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4710-01A-01W-1528-10	TCGA-B0-4710-11A-02W-1528-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	0a4d83b9-b7a5-4ab4-b9ca-92627f361b07	d71c3e47-a16b-4744-94f8-301369d6774b	g.chrX:53222460G>A	ENST00000375401.3	-	26	4904	c.4372C>T	c.(4372-4374)Cgg>Tgg	p.R1458W	KDM5C_ENST00000404049.3_Missense_Mutation_p.R1457W|KDM5C_ENST00000375379.3_Missense_Mutation_p.R1455W|KDM5C_ENST00000375383.3_Missense_Mutation_p.R1414W|KDM5C_ENST00000452825.3_Intron	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1458					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CGCCGCCGCCGCCTCTCCAGG	0.667			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													17	16	16					X																	53222460		2191	4271	6462	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4372C>T	X.37:g.53222460G>A	ENSP00000364550:p.Arg1458Trp		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	g	15.00	2.702256	0.48307	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.85702	-1.87;-1.87;-1.87;-2.02	3.97	0.689	0.18033	.	0.384012	0.21197	U	0.078538	D	0.88815	0.6539	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.87056	0.2150	10	0.87932	D	0	-15.3545	10.2919	0.43601	0.0:0.0:0.3597:0.6403	.	1457;1458	B0QZ44;P41229	.;KDM5C_HUMAN	W	1458;1457;1455;1414	ENSP00000364550:R1458W;ENSP00000385394:R1457W;ENSP00000364528:R1455W;ENSP00000364532:R1414W	ENSP00000364528:R1455W	R	-	1	2	KDM5C	53239185	0.734000	0.28142	0.997000	0.53966	0.995000	0.86356	0.350000	0.20079	0.172000	0.19760	0.407000	0.27541	CGG		0.667	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53222460	G	A	53222460	3	1	133	1	0	0	0	0	1	0	0	0	8137	1086	38	1	412	1	KDM5C	23	53222460	Missense_Mutation	SNP	G	TCGA-B0-4710-01A-01W-1528-10		53222460	102048100	2	7973											
C1orf213	80818	broad.mit.edu	37	1	23696047	23696047	+	5'Flank	SNP	A	A	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr1:23696047A>G	ENST00000314011.4	-	0	0				Y_RNA_ENST00000364535.1_RNA|C1orf213_ENST00000454117.1_Intron|C1orf213_ENST00000437367.2_Intron|ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000335648.3_Missense_Mutation_p.Y86C|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000458053.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y86C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAGCCCAGATATCGTAGGCTG	0.567																																																1	Substitution - Missense(1)	kidney(1)											66	66	66					1																	23696047		2203	4300	6503	SO:0001631	upstream_gene_variant	148898			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232		1.37:g.23696047A>G	Exception_encountered		Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	CCDS233.1	.	.	.	.	.	.	.	.	.	.	A	3.785	-0.044933	0.07452	.	.	ENSG00000249087	ENST00000335648	.	.	.	3.29	-0.673	0.11373	.	.	.	.	.	T	0.30634	0.0771	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25916	-1.0118	7	0.87932	D	0	.	7.919	0.29835	0.6888:0.0:0.3112:0.0	.	86	Q8NC38	CA213_HUMAN	C	86	.	ENSP00000441287:Y86C	Y	+	2	0	C1orf213	23568634	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.061000	0.14366	-0.472000	0.06881	-1.162000	0.01777	TAT		0.567	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		G	23696047	A	G	23696047	1	3	134	0	1	0	0	0	0	0	0	0	2032	449	16	3		3	C1orf213	1	23696047	5'Flank	SNP	A	TCGA-B0-4712-01A-01D-1501-10		23696047	225554574	1	7974											
PHC2	1912	hgsc.bcm.edu	37	1	33820749	33820769	+	In_Frame_Del	DEL	GGCTGCTGCTGTTGTGGCTGT	GGCTGCTGCTGTTGTGGCTGT	-	rs138345405|rs142456432	byFrequency	TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	GGCTGCTGCTGTTGTGGCTGT	GGCTGCTGCTGTTGTGGCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr1:33820749_33820769delGGCTGCTGCTGTTGTGGCTGT	ENST00000257118.5	-	7	1115_1135	c.1062_1082delACAGCCACAACAGCAGCAGCC	c.(1060-1083)ccacagccacaacagcagcagccg>ccg	p.354_361PQPQQQQP>P	PHC2_ENST00000419414.2_In_Frame_Del_p.354_361PQPQQQQP>P|PHC2_ENST00000373416.1_5'UTR|RP11-415J8.5_ENST00000432703.1_RNA|PHC2_ENST00000373422.3_5'UTR|PHC2_ENST00000431992.1_In_Frame_Del_p.325_332PQPQQQQP>P	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	354	Gln-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ctggggcggcggctgctgctgttgtggctgtggctgctgct	0.643																																																0										14,4232		7,0,2116						-0.5	0		dbSNP_134	22	60,8166		25,10,4078	no	coding	PHC2	NM_198040.2		32,10,6194	A1A1,A1R,RR		0.7294,0.3297,0.5933				74,12398				SO:0001651	inframe_deletion	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1062_1082delACAGCCACAACAGCAGCAGCC	1.37:g.33820749_33820769delGGCTGCTGCTGTTGTGGCTGT	ENSP00000257118:p.Pro354_Gln360del		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	In_Frame_Del	DEL	ENST00000257118.5	37	CCDS378.1																																																																																				0.643	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		-	33820769	GGCTGCTGCTGTTGTGGCTGT	-	33820749	7	5	134	1	0	1	0	1	0	0	0	0	11819	1116	39	0	1526	0	PHC2	1	33820749	In_Frame_Del	DEL	GGCTGCTGCTGTTGTGGCTGT	TCGA-B0-4712-01A-01D-1501-10	10124702	33820749	215429872	2	7975											
C1orf173	127254	broad.mit.edu;ucsc.edu	37	1	75102000	75102000	+	Silent	SNP	G	G	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr1:75102000G>T	ENST00000326665.5	-	6	785	c.567C>A	c.(565-567)acC>acA	p.T189T	C1orf173_ENST00000420661.2_5'Flank	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		189								p.T189T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCAGCAATGAGGTTTTTGATC	0.348																																																1	Substitution - coding silent(1)	kidney(1)											153	157	155					1																	75102000		2203	4300	6503	SO:0001819	synonymous_variant	127254																														ENST00000326665.5:c.567C>A	1.37:g.75102000G>T			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	CCDS30755.1																																																																																				0.348	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			T	75102000	G	T	75102000	2	4	134	1	0	0	0	0	0	0	0	1	2016	987	35	4		4	C1orf173	1	75102000	Silent	SNP	G	TCGA-B0-4712-01A-01D-1501-10	41281251	75102000	174148621	3	7976											
COL24A1	255631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	86315055	86315055	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr1:86315055C>G	ENST00000370571.2	-	38	3701	c.3335G>C	c.(3334-3336)aGa>aCa	p.R1112T	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1112T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1112	Collagen-like 10.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R1112T(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGACGACCTCTTTGCCCTGG	0.338																																																1	Substitution - Missense(1)	kidney(1)											95	91	92					1																	86315055		1814	4067	5881	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3335G>C	1.37:g.86315055C>G	ENSP00000359603:p.Arg1112Thr		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576373	0.28092	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.96940	-4.18;-4.18	5.19	4.28	0.50868	.	0.000000	0.39146	N	0.001446	D	0.94315	0.8173	L	0.35341	1.055	0.51767	D	0.999935	P;D	0.61697	0.935;0.99	P;D	0.68483	0.74;0.958	D	0.92484	0.5995	10	0.19147	T	0.46	.	12.5369	0.56145	0.0:0.9172:0.0:0.0828	.	1112;1112	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	T	1112	ENSP00000359603:R1112T;ENSP00000392531:R1112T	ENSP00000359603:R1112T	R	-	2	0	COL24A1	86087643	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	1.979000	0.40608	1.189000	0.43028	0.305000	0.20034	AGA		0.338	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		G	86315055	C	G	86315055	3	3	134	1	0	0	0	0	1	0	0	0	3685	913	32	4	1901	4	COL24A1	1	86315055	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	11213055	86315055	162935566	4	7977											
SLC16A4	9122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110921782	110921782	+	Silent	SNP	A	A	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr1:110921782A>C	ENST00000369779.4	-	6	972	c.723T>G	c.(721-723)acT>acG	p.T241T	SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000472422.2_Silent_p.T193T|SLC16A4_ENST00000541986.1_Silent_p.T179T|SLC16A4_ENST00000437429.2_Silent_p.T131T|SLC16A4_ENST00000369781.4_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	241					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)	p.T241T(1)		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)	CCTTCTGCGTAGTACTGTCCT	0.423																																																1	Substitution - coding silent(1)	kidney(1)											227	213	217					1																	110921782		2203	4300	6503	SO:0001819	synonymous_variant	9122			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.723T>G	1.37:g.110921782A>C			A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Silent	SNP	ENST00000369779.4	37	CCDS823.1																																																																																				0.423	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		C	110921782	A	C	110921782	2	2	134	1	0	0	0	0	0	0	0	1	14416	407	15	5		5	SLC16A4	1	110921782	Silent	SNP	A	TCGA-B0-4712-01A-01D-1501-10	24606727	110921782	138328839	5	7978											
DENND2C	163259	broad.mit.edu	37	1	115151368	115151368	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr1:115151368A>G	ENST00000393274.1	-	10	2121	c.1496T>C	c.(1495-1497)cTa>cCa	p.L499P	DENND2C_ENST00000393277.1_Missense_Mutation_p.L499P|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.L442P	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	499					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L442P(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCTTCTGTAGAGACACCAC	0.473																																																1	Substitution - Missense(1)	kidney(1)											155	146	149					1																	115151368		2203	4300	6503	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1496T>C	1.37:g.115151368A>G	ENSP00000376955:p.Leu499Pro		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.674077	0.88445	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.16743	3.4;3.08;2.32	5.39	5.39	0.77823	uDENN (2);	0.000000	0.64402	D	0.000001	T	0.30603	0.0770	M	0.69248	2.105	0.80722	D	1	D;P	0.89917	1.0;0.951	D;P	0.68943	0.961;0.858	T	0.07751	-1.0756	10	0.87932	D	0	.	15.428	0.75069	1.0:0.0:0.0:0.0	.	499;442	Q68D51;Q68D51-3	DEN2C_HUMAN;.	P	442;499;499;499	ENSP00000376957:L442P;ENSP00000376955:L499P;ENSP00000376958:L499P	ENSP00000358553:L499P	L	-	2	0	DENND2C	114952891	1.000000	0.71417	0.963000	0.40424	0.995000	0.86356	8.861000	0.92277	2.051000	0.60960	0.533000	0.62120	CTA		0.473	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		G	115151368	A	G	115151368	3	3	134	1	0	0	0	0	1	0	0	0	4432	420	15	3	1338	3	DENND2C	1	115151368	Missense_Mutation	SNP	A	TCGA-B0-4712-01A-01D-1501-10	4229586	115151368	134099253	6	7979											
PRPF3	9129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150312943	150312943	+	Silent	SNP	C	C	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr1:150312943C>T	ENST00000324862.6	+	9	1437	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	PRPF3_ENST00000414970.2_Silent_p.L375L|PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	424					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.L424L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CAGCCCAGCTCAATCCTCCAG	0.373																																					Ovarian(168;1070 2670 5178 20729)											1	Substitution - coding silent(1)	kidney(1)											77	71	73					1																	150312943		2203	4300	6503	SO:0001819	synonymous_variant	9129			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1272C>T	1.37:g.150312943C>T			B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	CCDS951.1																																																																																				0.373	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		T	150312943	C	T	150312943	2	4	134	1	0	0	0	0	0	0	0	1	12570	813	29	2		2	PRPF3	1	150312943	Silent	SNP	C	TCGA-B0-4712-01A-01D-1501-10	35161575	150312943	98937678	7	7980											
TADA1	117143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	166833059	166833059	+	Splice_Site	SNP	A	A	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr1:166833059A>T	ENST00000367874.4	-	4	424		c.e4+1		TADA1_ENST00000467021.1_5'Flank	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AGAACAACCTACATCAAATTT	0.398																																																1	Unknown(1)	kidney(1)											72	75	74					1																	166833059		2203	4300	6503	SO:0001630	splice_region_variant	117143			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.330+1T>A	1.37:g.166833059A>T			A8K4J9	Splice_Site	SNP	ENST00000367874.4	37	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211420	0.79240	.	.	ENSG00000152382	ENST00000367874	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TADA1	165099683	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.038000	0.88943	2.371000	0.80710	0.533000	0.62120	.		0.398	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053	Intron	T	166833059	A	T	166833059	5	4	134	1	0	0	0	0	0	0	1	0	15514	405	14	5	695	5	TADA1	1	166833059	Splice_Site	SNP	A	TCGA-B0-4712-01A-01D-1501-10	16520116	166833059	82417562	8	7981											
C1orf124	83932	broad.mit.edu;hgsc.bcm.edu	37	1	231489083	231489083	+	Silent	SNP	A	A	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr1:231489083A>G	ENST00000295050.7	+	5	1782	c.1446A>G	c.(1444-1446)aaA>aaG	p.K482K		NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	482					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)	p.K482K(1)									ACAGCATCAAAGTCAAAAGCG	0.418																																																1	Substitution - coding silent(1)	kidney(1)											37	37	37					1																	231489083		2203	4297	6500	SO:0001819	synonymous_variant	0			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"SprT-like domain at the N terminus", "DNA damage-targeting VCP (p97) adaptor"		"chromosome 1 open reading frame 124"	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.1446A>G	1.37:g.231489083A>G			B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Silent	SNP	ENST00000295050.7	37	CCDS1594.1																																																																																				0.418	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		G	231489083	A	G	231489083	2	3	134	1	0	0	0	0	0	0	0	1	1994	69	3	3		3	C1orf124	1	231489083	Silent	SNP	A	TCGA-B0-4712-01A-01D-1501-10	64656024	231489083	17761538	9	7982											
PLD5	200150	broad.mit.edu;hgsc.bcm.edu	37	1	242253369	242253369	+	Silent	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr1:242253369G>A	ENST00000536534.2	-	10	1639	c.1398C>T	c.(1396-1398)ggC>ggT	p.G466G	PLD5_ENST00000442594.2_Silent_p.G374G|PLD5_ENST00000427495.1_Silent_p.G404G			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	466						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.G466G(1)|p.G374G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAAGGCCCGTGCCAGCATTCT	0.423																																																2	Substitution - coding silent(2)	kidney(2)											137	130	132					1																	242253369		2203	4300	6503	SO:0001819	synonymous_variant	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1398C>T	1.37:g.242253369G>A			A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	CCDS1621.2																																																																																				0.423	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		A	242253369	G	A	242253369	2	1	134	1	0	0	0	0	0	0	0	1	12051	1306	46	2		2	PLD5	1	242253369	Silent	SNP	G	TCGA-B0-4712-01A-01D-1501-10	10764286	242253369	6997252	10	7983											
C2orf18	54978	broad.mit.edu	37	2	27001276	27001276	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr2:27001276G>A	ENST00000344420.5	+	6	1075	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H	CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.R255H	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	338					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)		p.R338H(1)									GGGCTACACCGTCCGCTGCTG	0.642																																																1	Substitution - Missense(1)	kidney(1)											64	63	64					2																	27001276		2203	4300	6503	SO:0001583	missense	0			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"ANT2-binding protein", "transport and golgi organization 9 homolog (Drosophila)"		"chromosome 2 open reading frame 18"	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.1013G>A	2.37:g.27001276G>A	ENSP00000345528:p.Arg338His		D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295371	0.40594	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	.	.	.	5.72	1.26	0.21427	.	0.231174	0.41097	N	0.000956	T	0.54727	0.1876	M	0.61703	1.905	0.80722	D	1	B;B;B	0.14438	0.002;0.01;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.51301	-0.8723	9	0.44086	T	0.13	-8.3975	9.825	0.40905	0.4037:0.0:0.5963:0.0	.	191;255;338	E7ET27;B4DLH2;Q8N357	.;.;CB018_HUMAN	H	338;255	.	ENSP00000345528:R338H	R	+	2	0	C2orf18	26854780	0.990000	0.36364	0.641000	0.29422	0.729000	0.41735	1.476000	0.35420	0.323000	0.23307	0.561000	0.74099	CGT		0.642	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		A	27001276	G	A	27001276	3	1	134	1	0	0	0	0	1	0	0	0	2160	1145	40	1	1035	1	C2orf18	2	27001276	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10		27001276	216198097	11	7984											
DHX57	90957	broad.mit.edu	37	2	39088979	39088979	+	Splice_Site	SNP	C	C	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr2:39088979C>A	ENST00000295373.6	-	5	699	c.573G>T	c.(571-573)agG>agT	p.R191S	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	191	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R191S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TGAAACCATACCTGTCAAGGG	0.393																																					Melanoma(191;1090 2095 4375 23729 47341)											1	Substitution - Missense(1)	kidney(1)											42	39	40					2																	39088979		2203	4298	6501	SO:0001630	splice_region_variant	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.573-1G>T	2.37:g.39088979C>A			A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643374	0.67244	.	.	ENSG00000163214	ENST00000295373;ENST00000355320;ENST00000417233	T	0.51817	0.69	5.41	-0.819	0.10829	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.000000	0.56097	D	0.000024	T	0.42585	0.1209	N	0.25201	0.72	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	T	0.42965	-0.9420	10	0.09590	T	0.72	.	7.0248	0.24934	0.0:0.5609:0.1104:0.3287	.	191;191	Q6P158-2;Q6P158	.;DHX57_HUMAN	S	191;89;89	ENSP00000295373:R191S	ENSP00000295373:R191S	R	-	3	2	DHX57	38942483	0.999000	0.42202	0.994000	0.49952	0.964000	0.63967	0.692000	0.25482	0.092000	0.17331	0.655000	0.94253	AGG		0.393	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	Missense_Mutation	A	39088979	C	A	39088979	5	1	134	1	0	0	0	0	0	0	1	0	4515	521	18	4	3667	4	DHX57	2	39088979	Splice_Site	SNP	C	TCGA-B0-4712-01A-01D-1501-10	12087703	39088979	204110394	12	7985											
B3GNT2	10678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	62450134	62450134	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr2:62450134A>G	ENST00000301998.4	+	2	1031	c.779A>G	c.(778-780)aAt>aGt	p.N260S	B3GNT2_ENST00000405767.1_Missense_Mutation_p.N260S	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	260					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.N260S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AATTACTTGAATAGTTTATCC	0.433																																																1	Substitution - Missense(1)	kidney(1)											118	113	114					2																	62450134		2203	4300	6503	SO:0001583	missense	10678			AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"Beta 3-glycosyltransferases"	15629	protein-coding gene	gene with protein product		605581	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.779A>G	2.37:g.62450134A>G	ENSP00000305595:p.Asn260Ser		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	A	9.300	1.052831	0.19907	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.40476	1.03;1.03	5.74	5.74	0.90152	.	0.261816	0.44097	D	0.000482	T	0.28067	0.0692	N	0.17082	0.46	0.32399	N	0.55221	B	0.28350	0.208	B	0.30251	0.113	T	0.23297	-1.0192	10	0.09338	T	0.73	.	16.0546	0.80788	1.0:0.0:0.0:0.0	.	260	Q9NY97	B3GN2_HUMAN	S	260	ENSP00000305595:N260S;ENSP00000384692:N260S	ENSP00000305595:N260S	N	+	2	0	B3GNT2	62303638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.400000	0.59709	2.191000	0.70037	0.528000	0.53228	AAT		0.433	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		G	62450134	A	G	62450134	3	3	134	1	0	0	0	0	1	0	0	0	1257	101	4	3	781	3	B3GNT2	2	62450134	Missense_Mutation	SNP	A	TCGA-B0-4712-01A-01D-1501-10	23361155	62450134	180749239	13	7986											
SCN2A	6326	broad.mit.edu;hgsc.bcm.edu	37	2	166201197	166201197	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr2:166201197G>A	ENST00000375437.2	+	16	2985	c.2695G>A	c.(2695-2697)Ggc>Agc	p.G899S	SCN2A_ENST00000357398.3_Missense_Mutation_p.G899S|SCN2A_ENST00000283256.6_Missense_Mutation_p.G899S|SCN2A_ENST00000375427.2_Missense_Mutation_p.G899S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	899					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G899S(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCTGTGGTCGGCATGCAGCT	0.438																																																2	Substitution - Missense(2)	kidney(2)											168	160	163					2																	166201197		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2695G>A	2.37:g.166201197G>A	ENSP00000364586:p.Gly899Ser		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476049	0.96291	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99080	0.9684	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99160	1.0861	10	0.87932	D	0	.	19.9329	0.97127	0.0:0.0:1.0:0.0	.	899;899	Q99250-2;Q99250	.;SCN2A_HUMAN	S	899	ENSP00000364586:G899S;ENSP00000349973:G899S;ENSP00000283256:G899S;ENSP00000364576:G899S	ENSP00000283256:G899S	G	+	1	0	SCN2A	165909443	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.735000	0.98825	2.714000	0.92807	0.650000	0.86243	GGC		0.438	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		A	166201197	G	A	166201197	3	1	134	1	0	0	0	0	1	0	0	0	13922	1116	39	1	2849	1	SCN2A	2	166201197	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	103751063	166201197	76998176	14	7987											
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170028541	170028541	+	Silent	SNP	T	T	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr2:170028541T>C	ENST00000263816.3	-	58	11532	c.11247A>G	c.(11245-11247)tcA>tcG	p.S3749S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3749	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S3749S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTTCCTCATCTGAGTTATCTC	0.453																																																1	Substitution - coding silent(1)	kidney(1)											152	134	140					2																	170028541		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11247A>G	2.37:g.170028541T>C			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170028541	T	C	170028541	2	2	134	1	0	0	0	0	0	0	0	1	8958	1567	55	3		3	LRP2	2	170028541	Silent	SNP	T	TCGA-B0-4712-01A-01D-1501-10	3827344	170028541	73170832	15	7988											
TTN	7273	broad.mit.edu;ucsc.edu	37	2	179575503	179575503	+	Missense_Mutation	SNP	C	C	T	rs397517529		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr2:179575503C>T	ENST00000591111.1	-	96	27594	c.27370G>A	c.(27370-27372)Gga>Aga	p.G9124R	TTN_ENST00000589042.1_Missense_Mutation_p.G9441R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8197R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13255	Ig-like 74.				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)	p.G8197R(1)		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)			TGGTACTTTCCGCCACTTCGT	0.488																																																1	Substitution - Missense(1)	kidney(1)											151	145	147					2																	179575503		1983	4171	6154	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27370G>A	2.37:g.179575503C>T	ENSP00000465570:p.Gly9124Arg		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	14.49	2.551573	0.45487	.	.	ENSG00000155657	ENST00000342992	T	0.44881	0.91	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53126	0.1777	L	0.58510	1.815	0.80722	D	1	D	0.60575	0.988	P	0.52514	0.701	T	0.53613	-0.8414	9	0.87932	D	0	.	15.8933	0.79318	0.0:0.9342:0.0:0.0658	.	9124	Q8WZ42	TITIN_HUMAN	R	8197	ENSP00000343764:G8197R	ENSP00000343764:G8197R	G	-	1	0	TTN	179283748	0.988000	0.35896	0.823000	0.32752	0.822000	0.46500	2.609000	0.46317	2.941000	0.99782	0.655000	0.94253	GGA		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179575503	C	T	179575503	3	4	134	1	0	0	0	0	1	0	0	0	16740	661	23	1	76268	1	TTN	2	179575503	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	9546962	179575503	63623870	16	7989											
CFLAR	8837	broad.mit.edu;hgsc.bcm.edu	37	2	202025389	202025389	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr2:202025389A>G	ENST00000309955.3	+	9	1543	c.1028A>G	c.(1027-1029)gAt>gGt	p.D343G	CFLAR_ENST00000341582.6_Missense_Mutation_p.D308G|CFLAR_ENST00000443227.1_Missense_Mutation_p.D247G|CFLAR_ENST00000355558.4_Intron|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000479953.2_Missense_Mutation_p.D247G|CFLAR_ENST00000340870.5_Missense_Mutation_p.D343G|CFLAR_ENST00000457277.1_Missense_Mutation_p.D343G|CFLAR_ENST00000423241.2_Missense_Mutation_p.D343G	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	343	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.			D -> E (in Ref. 8; AAC15825). {ECO:0000305}.	apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)	p.D343G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TTCATGGGAGATTCATGCCCT	0.532																																					Pancreas(16;548 657 22190 32864 42338)											1	Substitution - Missense(1)	kidney(1)											96	85	89					2																	202025389		2203	4300	6503	SO:0001583	missense	8837			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.1028A>G	2.37:g.202025389A>G	ENSP00000312455:p.Asp343Gly		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539654	0.65085	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	5.62	5.62	0.85841	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.204781	0.50627	D	0.000102	T	0.50939	0.1645	M	0.86953	2.85	0.46874	D	0.999231	D;D;D;D	0.89917	0.986;1.0;1.0;1.0	D;D;D;D	0.83275	0.939;0.995;0.99;0.996	T	0.53308	-0.8457	10	0.24483	T	0.36	-21.9186	15.8114	0.78568	1.0:0.0:0.0:0.0	.	247;343;308;343	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	G	343;247;343;229;308;343;343	ENSP00000312455:D343G;ENSP00000413270:D247G;ENSP00000339326:D343G;ENSP00000345807:D308G;ENSP00000399420:D343G;ENSP00000411535:D343G	ENSP00000312455:D343G	D	+	2	0	CFLAR	201733634	1.000000	0.71417	0.892000	0.35008	0.410000	0.31052	6.026000	0.70873	2.137000	0.66172	0.454000	0.30748	GAT		0.532	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		G	202025389	A	G	202025389	3	3	134	1	0	0	0	0	1	0	0	0	3294	333	12	3	1122	3	CFLAR	2	202025389	Missense_Mutation	SNP	A	TCGA-B0-4712-01A-01D-1501-10	22449886	202025389	41173984	17	7990											
NCL	4691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	232322358	232322358	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr2:232322358C>G	ENST00000322723.4	-	9	1683	c.1443G>C	c.(1441-1443)tgG>tgC	p.W481C	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA|SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	481					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.W481C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TCTTACCACTCCAAGTGCTAT	0.368																																																1	Substitution - Missense(1)	kidney(1)											143	145	145					2																	232322358		2202	4299	6501	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1443G>C	2.37:g.232322358C>G	ENSP00000318195:p.Trp481Cys		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137925	0.56936	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	D;T	0.83837	-1.77;-0.81	5.76	3.95	0.45737	Nucleotide-binding, alpha-beta plait (1);	0.319059	0.35615	N	0.003084	D	0.82958	0.5150	L	0.40543	1.245	0.50313	D	0.999865	D	0.56968	0.978	P	0.55749	0.783	T	0.82299	-0.0526	10	0.56958	D	0.05	-1.5288	10.6995	0.45918	0.0:0.8432:0.0:0.1568	.	481	P19338	NUCL_HUMAN	C	481;373;253;82	ENSP00000318195:W481C;ENSP00000349410:W82C	ENSP00000318195:W481C	W	-	3	0	NCL	232030602	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	0.632000	0.24583	0.777000	0.33496	0.558000	0.71614	TGG		0.368	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		G	232322358	C	G	232322358	3	3	134	1	0	0	0	0	1	0	0	0	10228	856	30	4	713	4	NCL	2	232322358	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	30296969	232322358	10877015	18	7991											
TTLL3	26140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9868880	9868880	+	Silent	SNP	T	T	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr3:9868880T>C	ENST00000547186.1	+	9	1290	c.1074T>C	c.(1072-1074)taT>taC	p.Y358Y	TTLL3_ENST00000430793.1_Silent_p.Y146Y|ARPC4-TTLL3_ENST00000397256.1_Silent_p.Y419Y|TTLL3_ENST00000427853.3_Silent_p.Y146Y|TTLL3_ENST00000466245.1_Intron|TTLL3_ENST00000383827.1_Silent_p.Y146Y|TTLL3_ENST00000426895.4_Silent_p.Y501Y|TTLL3_ENST00000455274.1_Silent_p.Y146Y|TTLL3_ENST00000397241.1_Silent_p.Y146Y	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	358	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.Y358Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GCGACAGCTATATCCGCTTTT	0.582																																																1	Substitution - coding silent(1)	kidney(1)											122	109	113					3																	9868880		2203	4300	6503	SO:0001819	synonymous_variant	26140				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1074T>C	3.37:g.9868880T>C			Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37		.	.	.	.	.	.	.	.	.	.	T	7.869	0.727681	0.15439	.	.	ENSG00000214021	ENST00000310252	T	0.06142	3.34	5.09	0.124	0.14714	.	0.174244	0.39146	U	0.001455	T	0.14399	0.0348	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01480	-1.1344	7	0.87932	D	0	.	11.0341	0.47791	0.0:0.6551:0.0:0.3449	.	.	.	.	H	314	ENSP00000312148:Y314H	ENSP00000312148:Y314H	Y	+	1	0	TTLL3	9843880	0.998000	0.40836	0.998000	0.56505	0.789000	0.44602	1.150000	0.31639	0.079000	0.16929	-0.479000	0.04858	TAT		0.582	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		C	9868880	T	C	9868880	2	2	134	1	0	0	0	0	0	0	0	1	16733	1413	49	3		3	TTLL3	3	9868880	Silent	SNP	T	TCGA-B0-4712-01A-01D-1501-10		9868880	188153550	19	7992											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10191570	10191570	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr3:10191570T>G	ENST00000256474.2	+	3	1403	c.563T>G	c.(562-564)cTg>cGg	p.L188R	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.L147R	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	188			L -> P (in VHLD; type I-II). {ECO:0000269|PubMed:9829912}.|L -> Q (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|L -> V (in ECYT2, pheochromocytoma and VHLD; type IIA; dbSNP:rs5030824). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:12844285}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L188P(4)|p.L188fs*14(2)|p.L188Q(2)|p.D187_L188del(2)|p.L188R(2)|p.D187_N193del(1)|p.E189fs*27(1)|p.Y185fs*11(1)|p.D187fs*14(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TACGAAGATCTGGAAGACCAC	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	16	Substitution - Missense(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Insertion - Frameshift(1)	kidney(16)	GRCh37	CD962181|CM951299|CM982013	VHL	D|M							76	69	72					3																	10191570		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.563T>G	3.37:g.10191570T>G	ENSP00000256474:p.Leu188Arg		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434167	0.83776	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99878	-7.42;-7.42	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000002	D	0.99799	0.9914	M	0.73962	2.25	0.48975	D	0.999731	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96566	0.9419	10	0.87932	D	0	-7.586	12.9354	0.58311	0.0:0.0:0.0:1.0	.	147;188	P40337-2;P40337	.;VHL_HUMAN	R	188;147;106	ENSP00000256474:L188R;ENSP00000344757:L147R	ENSP00000256474:L188R	L	+	2	0	VHL	10166570	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.790000	0.69038	2.209000	0.71365	0.533000	0.62120	CTG		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10191570	T	G	10191570	3	3	134	1	0	0	0	0	1	0	0	0	17167	1580	55	5	573	5	VHL	3	10191570	Missense_Mutation	SNP	T	TCGA-B0-4712-01A-01D-1501-10	322690	10191570	187830860	20	7993											
SETD2	29072	broad.mit.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47165360	47165361	+	Nonsense_Mutation	DNP	GC	GC	AG			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G|C	G|C	G|C	A|G	G|C	G|C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx|Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr3:47165360_47165361GC>AG	ENST00000409792.3	-	3	807_808	c.765_766GC>CT	c.(763-768)aaGCag>aaCTag	p.255_256KQ>N*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	255					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.Q256*(1)|p.K255N(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATAGTGTCCTGCTTAGTATCTG	0.361			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(1)|Substitution - Missense(1)	kidney(2)																																								SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.765_766delinsAG	3.37:g.47165360_47165361delinsAG	ENSP00000386759:p.K255_Q256delinsN*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2																																																																																				0.361	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		AG	47165361	GC	AG	47165360	4	1	134	1	0	0	0	0	0	1	0	0	14137	1328	46	2	7004	2	SETD2	3	47165360	Nonsense_Mutation	DNP	GC	TCGA-B0-4712-01A-01D-1501-10	36973790	47165360	150857070	21	7994											
WDR52	55779	broad.mit.edu;ucsc.edu	37	3	113022837	113022837	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr3:113022837T>G	ENST00000393845.2	-	32	5069	c.5003A>C	c.(5002-5004)aAa>aCa	p.K1668T	WDR52_ENST00000308346.6_Missense_Mutation_p.K271T	NM_001164496.1	NP_001157968.1												p.K816T(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTTGTTAAGTTTTTGCTGCTT	0.448																																																1	Substitution - Missense(1)	kidney(1)											284	215	236					3																	113022837		692	1591	2283	SO:0001583	missense	55779																														ENST00000393845.2:c.5003A>C	3.37:g.113022837T>G	ENSP00000377428:p.Lys1668Thr			Missense_Mutation	SNP	ENST00000393845.2	37	CCDS54624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.29|14.29	2.489995|2.489995	0.44249|0.44249	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000465636|ENST00000393845;ENST00000308346	.|T;T	.|0.39592	.|1.07;1.07	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.986238|0.986238	0.08305|0.08305	N|N	0.966345|0.966345	T|T	0.48926|0.48926	0.1527|0.1527	L|L	0.29908|0.29908	0.895|0.895	0.30290|0.30290	N|N	0.790507|0.790507	.|D	.|0.62365	.|0.991	.|P	.|0.56751	.|0.805	T|T	0.37103|0.37103	-0.9720|-0.9720	6|10	.|0.20519	.|T	.|0.43	-28.0071|-28.0071	14.8967|14.8967	0.70649|0.70649	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1668	.|Q96MT7-2	.|.	N|T	804|1668;271	.|ENSP00000377428:K1668T;ENSP00000311497:K271T	.|ENSP00000311497:K271T	K|K	-|-	3|2	2|0	WDR52|WDR52	114505527|114505527	0.999000|0.999000	0.42202|0.42202	0.973000|0.973000	0.42090|0.42090	0.006000|0.006000	0.05464|0.05464	5.551000|5.551000	0.67274|0.67274	2.154000|2.154000	0.67381|0.67381	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.448	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	113022837	T	G	113022837	3	3	134	1	0	0	0	0	1	0	0	0	17309	1841	64	5	577	5	WDR52	3	113022837	Missense_Mutation	SNP	T	TCGA-B0-4712-01A-01D-1501-10	65857477	113022837	84999593	22	7995											
ARGFX	503582	broad.mit.edu;hgsc.bcm.edu	37	3	121305227	121305227	+	Missense_Mutation	SNP	C	C	G	rs540135129		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr3:121305227C>G	ENST00000334384.3	+	4	738	c.728C>G	c.(727-729)tCc>tGc	p.S243C		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S243C(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		AATGAGATATCCAGCTCTTCT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		21967	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											110	109	109					3																	121305227		2203	4298	6501	SO:0001583	missense	503582				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"Homeoboxes / PRD class"	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.728C>G	3.37:g.121305227C>G	ENSP00000335578:p.Ser243Cys			Missense_Mutation	SNP	ENST00000334384.3	37	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523597	0.27299	.	.	ENSG00000186103	ENST00000334384	D	0.90788	-2.73	3.47	3.47	0.39725	.	0.392698	0.18909	N	0.127804	D	0.88588	0.6477	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	P	0.58454	0.839	T	0.80632	-0.1296	10	0.62326	D	0.03	-1.3429	10.7334	0.46111	0.0:1.0:0.0:0.0	.	243	A6NJG6	ARGFX_HUMAN	C	243	ENSP00000335578:S243C	ENSP00000335578:S243C	S	+	2	0	ARGFX	122787917	0.000000	0.05858	0.004000	0.12327	0.026000	0.11368	0.696000	0.25541	2.243000	0.73865	0.491000	0.48974	TCC		0.473	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		G	121305227	C	G	121305227	3	3	134	1	0	0	0	0	1	0	0	0	859	855	30	4	742	4	ARGFX	3	121305227	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	8282390	121305227	76717203	23	7996											
GOLGB1	2804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121412704	121412704	+	Silent	SNP	A	A	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr3:121412704A>G	ENST00000340645.5	-	13	6776	c.6651T>C	c.(6649-6651)gaT>gaC	p.D2217D	GOLGB1_ENST00000393667.3_Silent_p.D2222D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2217					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.D2217D(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTGAATCGCATCACTAAACT	0.403																																																1	Substitution - coding silent(1)	kidney(1)											239	214	223					3																	121412704		2203	4300	6503	SO:0001819	synonymous_variant	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6651T>C	3.37:g.121412704A>G			B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	CCDS3004.1																																																																																				0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		G	121412704	A	G	121412704	2	3	134	1	0	0	0	0	0	0	0	1	6567	214	8	3		3	GOLGB1	3	121412704	Silent	SNP	A	TCGA-B0-4712-01A-01D-1501-10	107477	121412704	76609726	24	7997											
SLC15A2	6565	broad.mit.edu;hgsc.bcm.edu	37	3	121613330	121613330	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr3:121613330C>G	ENST00000489711.1	+	1	395	c.7C>G	c.(7-9)Cct>Gct	p.P3A	SLC15A2_ENST00000295605.2_Missense_Mutation_p.P3A	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	3					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.P3A(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGCCATGAATCCTTTCCAGAA	0.493																																																1	Substitution - Missense(1)	kidney(1)											130	141	138					3																	121613330		2203	4300	6503	SO:0001583	missense	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.7C>G	3.37:g.121613330C>G	ENSP00000417085:p.Pro3Ala		A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386224	0.25031	.	.	ENSG00000163406	ENST00000489711;ENST00000295605	T;T	0.02345	4.62;4.33	5.1	0.803	0.18691	Major facilitator superfamily domain, general substrate transporter (1);	0.330992	0.25890	N	0.027637	T	0.01421	0.0046	N	0.14661	0.345	0.26394	N	0.976536	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46911	-0.9157	10	0.15952	T	0.53	-1.9071	2.5334	0.04709	0.36:0.3882:0.1572:0.0946	.	3;3	B4E2A7;Q16348	.;S15A2_HUMAN	A	3	ENSP00000417085:P3A;ENSP00000295605:P3A	ENSP00000295605:P3A	P	+	1	0	SLC15A2	123096020	0.007000	0.16637	0.968000	0.41197	0.984000	0.73092	-0.560000	0.05964	0.289000	0.22422	-0.270000	0.10280	CCT		0.493	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		G	121613330	C	G	121613330	3	3	134	1	0	0	0	0	1	0	0	0	14405	855	30	4	9	4	SLC15A2	3	121613330	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	200626	121613330	76409100	25	7998											
MYLK	4638	broad.mit.edu;hgsc.bcm.edu	37	3	123418999	123418999	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr3:123418999C>T	ENST00000475616.1	-	15	3315	c.3316G>A	c.(3316-3318)Gat>Aat	p.D1106N	MYLK_ENST00000346322.5_Missense_Mutation_p.D1037N|MYLK_ENST00000360304.3_Missense_Mutation_p.D1106N|MYLK_ENST00000360772.3_Missense_Mutation_p.D1106N|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Missense_Mutation_p.D1106N			Q15746	MYLK_HUMAN	myosin light chain kinase	1106	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.D1106N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACATGAACATCTTGCAGCTTC	0.547																																																1	Substitution - Missense(1)	kidney(1)											111	109	110					3																	123418999		2203	4300	6503	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3316G>A	3.37:g.123418999C>T	ENSP00000418335:p.Asp1106Asn		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408573	0.62399	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56863	0.2014	L	0.37507	1.11	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.997;0.999;1.0;0.999;1.0	T	0.47328	-0.9126	9	0.30854	T	0.27	.	19.9663	0.97271	0.0:1.0:0.0:0.0	.	1106;184;1037;1106;1037;1106	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	N	1106;1106;1106;1037;1106	ENSP00000354004:D1106N;ENSP00000353452:D1106N;ENSP00000352088:D1106N;ENSP00000320622:D1037N;ENSP00000418335:D1106N	ENSP00000320622:D1037N	D	-	1	0	MYLK	124901689	1.000000	0.71417	0.427000	0.26684	0.070000	0.16714	6.025000	0.70864	2.727000	0.93392	0.555000	0.69702	GAT		0.547	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		T	123418999	C	T	123418999	3	4	134	1	0	0	0	0	1	0	0	0	10058	913	32	2	2496	2	MYLK	3	123418999	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	1805669	123418999	74603431	26	7999											
COL6A6	131873	broad.mit.edu;hgsc.bcm.edu	37	3	130380932	130380932	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr3:130380932C>G	ENST00000358511.6	+	34	6313	c.6282C>G	c.(6280-6282)agC>agG	p.S2094R	COL6A6_ENST00000453409.2_Missense_Mutation_p.S2094R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2094	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.S2094R(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGGAAACCAGCCACTTAGATG	0.423																																																1	Substitution - Missense(1)	kidney(1)											106	106	106					3																	130380932		1866	4105	5971	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6282C>G	3.37:g.130380932C>G	ENSP00000351310:p.Ser2094Arg		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403529	0.25291	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83837	-1.77;-1.77	5.88	-3.61	0.04556	von Willebrand factor, type A (3);	.	.	.	.	T	0.79907	0.4527	L	0.36672	1.1	0.19300	N	0.999972	P;B	0.50369	0.934;0.409	P;B	0.51170	0.661;0.255	T	0.71303	-0.4633	9	0.21014	T	0.42	.	15.8992	0.79359	0.0:0.7272:0.0:0.2728	.	2094;2094	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	R	2094	ENSP00000351310:S2094R;ENSP00000399236:S2094R	ENSP00000351310:S2094R	S	+	3	2	COL6A6	131863622	0.001000	0.12720	0.012000	0.15200	0.853000	0.48598	-0.372000	0.07504	-0.559000	0.06110	-0.367000	0.07326	AGC		0.423	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		G	130380932	C	G	130380932	3	3	134	1	0	0	0	0	1	0	0	0	3705	738	26	4	6416	4	COL6A6	3	130380932	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	6961933	130380932	67641498	27	8000											
P2RY12	64805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	151056476	151056476	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr3:151056476A>G	ENST00000302632.3	-	3	457	c.158T>C	c.(157-159)aTc>aCc	p.I53T	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	53					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.I53T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TTTACTCCGGATTTGAAAGAA	0.373																																																1	Substitution - Missense(1)	kidney(1)											55	58	57					3																	151056476		2203	4300	6503	SO:0001583	missense	64805			AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.158T>C	3.37:g.151056476A>G	ENSP00000307259:p.Ile53Thr		D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941184	0.73557	.	.	ENSG00000169313	ENST00000302632;ENST00000455408	T	0.29655	1.56	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	L	0.58354	1.805	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.37865	-0.9687	10	0.16896	T	0.51	-39.2572	15.3304	0.74203	1.0:0.0:0.0:0.0	.	53;53	A8K7T1;Q9H244	.;P2Y12_HUMAN	T	53	ENSP00000307259:I53T	ENSP00000307259:I53T	I	-	2	0	P2RY12	152539166	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.456000	0.90359	2.080000	0.62538	0.528000	0.53228	ATC		0.373	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			G	151056476	A	G	151056476	3	3	134	1	0	0	0	0	1	0	0	0	11351	333	12	3	874	3	P2RY12	3	151056476	Missense_Mutation	SNP	A	TCGA-B0-4712-01A-01D-1501-10	20675544	151056476	46965954	28	8001											
HTRA3	94031	broad.mit.edu	37	4	8288470	8288470	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr4:8288470A>G	ENST00000307358.2	+	3	872	c.668A>G	c.(667-669)gAc>gGc	p.D223G	HTRA3_ENST00000382512.3_Missense_Mutation_p.D223G	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	223	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D223G(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						AAAGACATCGACAAGAAGTCG	0.622																																																1	Substitution - Missense(1)	kidney(1)											78	65	70					4																	8288470		2203	4300	6503	SO:0001583	missense	94031			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.668A>G	4.37:g.8288470A>G	ENSP00000303766:p.Asp223Gly		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135120	0.77662	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.90732	-2.72;-2.72	4.08	4.08	0.47627	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.94545	0.8243	M	0.88775	2.98	0.80722	D	1	P;B	0.48162	0.906;0.228	P;B	0.55667	0.781;0.069	D	0.95267	0.8374	10	0.87932	D	0	-12.714	13.0418	0.58904	1.0:0.0:0.0:0.0	.	223;223	P83110;P83110-2	HTRA3_HUMAN;.	G	223	ENSP00000303766:D223G;ENSP00000371952:D223G	ENSP00000303766:D223G	D	+	2	0	HTRA3	8339370	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.562000	0.90719	1.488000	0.48433	0.379000	0.24179	GAC		0.622	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		G	8288470	A	G	8288470	3	3	134	1	0	0	0	0	1	0	0	0	7457	275	10	3	678	3	HTRA3	4	8288470	Missense_Mutation	SNP	A	TCGA-B0-4712-01A-01D-1501-10		8288470	182865806	29	8002											
FRYL	285527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	48525026	48525026	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr4:48525026G>C	ENST00000503238.1	-	51	7412	c.7413C>G	c.(7411-7413)tgC>tgG	p.C2471W	FRYL_ENST00000537810.1_Missense_Mutation_p.C2471W|FRYL_ENST00000358350.4_Missense_Mutation_p.C2471W|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	2471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.C2471W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGCTACTAGAGCACTGGTACT	0.532																																																1	Substitution - Missense(1)	kidney(1)											166	166	166					4																	48525026		1959	4145	6104	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7413C>G	4.37:g.48525026G>C	ENSP00000426064:p.Cys2471Trp		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.47|12.47	1.947796|1.947796	0.34377|0.34377	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.21932|.	1.98;1.98;1.98|.	5.62|5.62	-1.76|-1.76	0.08006|0.08006	.|.	0.117006|.	0.64402|.	D|.	0.000012|.	T|T	0.36138|0.36138	0.0956|0.0956	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30709|.	0.291;0.043;0.127|.	B;B;B|.	0.35770|.	0.064;0.104;0.21|.	T|T	0.07309|0.07309	-1.0779|-1.0779	10|5	0.39692|.	T|.	0.17|.	.|.	12.1184|12.1184	0.53878|0.53878	0.5067:0.0:0.4933:0.0|0.5067:0.0:0.4933:0.0	.|.	1301;2471;2471|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	W|V	2471|1341	ENSP00000426064:C2471W;ENSP00000351113:C2471W;ENSP00000441114:C2471W|.	ENSP00000351113:C2471W|.	C|L	-|-	3|1	2|0	FRYL|FRYL	48219783|48219783	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.915000|0.915000	0.54546|0.54546	0.975000|0.975000	0.29449|0.29449	-0.836000|-0.836000	0.04229|0.04229	-0.384000|-0.384000	0.06662|0.06662	TGC|CTC		0.532	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			C	48525026	G	C	48525026	3	2	134	1	0	0	0	0	1	0	0	0	6066	963	34	4	1672	4	FRYL	4	48525026	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	40236556	48525026	142629250	30	8003											
KDR	3791	broad.mit.edu;hgsc.bcm.edu	37	4	55973949	55973949	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr4:55973949A>C	ENST00000263923.4	-	10	1662	c.1367T>G	c.(1366-1368)aTc>aGc	p.I456S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	456	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I456S(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATACCAGTGGATGTGATGCGG	0.512			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - Missense(1)	kidney(1)											204	173	183					4																	55973949		2203	4300	6503	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1367T>G	4.37:g.55973949A>C	ENSP00000263923:p.Ile456Ser		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314454	0.60524	.	.	ENSG00000128052	ENST00000263923	T	0.13420	2.59	5.29	5.29	0.74685	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.530991	0.21343	N	0.076095	T	0.37293	0.0998	M	0.82823	2.61	0.28306	N	0.922896	D;D	0.55172	0.97;0.957	P;P	0.58577	0.714;0.841	T	0.36601	-0.9741	10	0.87932	D	0	.	15.2002	0.73130	1.0:0.0:0.0:0.0	.	456;456	P35968-2;P35968	.;VGFR2_HUMAN	S	456	ENSP00000263923:I456S	ENSP00000263923:I456S	I	-	2	0	KDR	55668706	0.999000	0.42202	0.058000	0.19502	0.260000	0.26232	8.696000	0.91302	2.004000	0.58718	0.260000	0.18958	ATC		0.512	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			C	55973949	A	C	55973949	3	2	134	1	0	0	0	0	1	0	0	0	8141	333	12	5	2787	5	KDR	4	55973949	Missense_Mutation	SNP	A	TCGA-B0-4712-01A-01D-1501-10	7448923	55973949	135180327	31	8004											
REST	5978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57797456	57797456	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr4:57797456C>T	ENST00000309042.7	+	4	2746	c.2432C>T	c.(2431-2433)tCc>tTc	p.S811F		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	811	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S811F(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GAGCCAATTTCCAAAAAGCCT	0.517																																																1	Substitution - Missense(1)	kidney(1)											96	107	103					4																	57797456		2203	4300	6503	SO:0001583	missense	5978			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2432C>T	4.37:g.57797456C>T	ENSP00000311816:p.Ser811Phe		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523705	0.27299	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.08458	3.09	4.52	3.68	0.42216	.	0.603484	0.13918	N	0.353760	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	P;P	0.49447	0.924;0.875	P;P	0.51135	0.66;0.459	T	0.25082	-1.0142	10	0.62326	D	0.03	-1.3409	8.4528	0.32882	0.0:0.8973:0.0:0.1027	.	788;811	F8WAN5;Q13127	.;REST_HUMAN	F	811;788	ENSP00000311816:S811F	ENSP00000311816:S811F	S	+	2	0	REST	57492213	0.027000	0.19231	0.006000	0.13384	0.002000	0.02628	3.919000	0.56439	1.504000	0.48704	0.655000	0.94253	TCC		0.517	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		T	57797456	C	T	57797456	3	4	134	1	0	0	0	0	1	0	0	0	13240	855	30	2	2442	2	REST	4	57797456	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	1823507	57797456	133356820	32	8005											
RAP1GDS1	5910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	99355174	99355175	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr4:99355174_99355175GC>AG	ENST00000408927.3	+	13	1641_1642	c.1528_1529GC>AG	c.(1528-1530)GCt>AGt	p.A510S	RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A510S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A461S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A462S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A511S|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A419S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	510					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)	p.A510G(1)|p.A510T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GCAGAATGAAGCTCTTGTTGCT	0.351			T	NUP98	T-ALL																																		Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	5910				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	Exception_encountered	4.37:g.99355174_99355175delinsAG	ENSP00000386153:p.Ala510Ser		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	CCDS43253.1																																																																																				0.351	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		AG	99355175	GC	AG	99355174	3	1	134	1	0	0	0	0	1	0	0	0	13045	971	34	2	1581	2	RAP1GDS1	4	99355174	Missense_Mutation	DNP	GC	TCGA-B0-4712-01A-01D-1501-10	41557718	99355174	91799102	33	8006											
UTP15	84135	broad.mit.edu;ucsc.edu	37	5	72864335	72864335	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr5:72864335G>A	ENST00000296792.4	+	4	529	c.274G>A	c.(274-276)Ggt>Agt	p.G92S	UTP15_ENST00000543251.1_5'UTR|UTP15_ENST00000508491.1_Missense_Mutation_p.G73S|ANKRA2_ENST00000296785.3_5'Flank	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	92					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.G92S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TCGACAAGATGGTAGATTGCT	0.423																																																1	Substitution - Missense(1)	kidney(1)											116	119	118					5																	72864335		2203	4300	6503	SO:0001583	missense	84135			AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"WD repeat domain containing"	25758	protein-coding gene	gene with protein product			"UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.274G>A	5.37:g.72864335G>A	ENSP00000296792:p.Gly92Ser		B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	CCDS34186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.560954|5.560954	0.96527|0.96527	.|.	.|.	ENSG00000164338|ENSG00000164338	ENST00000296792;ENST00000508491|ENST00000509005	T;T|.	0.21543|.	2.0;2.0|.	5.55|5.55	5.55|5.55	0.83447|0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83912|0.83912	0.5357|0.5357	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.85555|0.85555	0.1224|0.1224	9|5	.|.	.|.	.|.	.|.	19.5283|19.5283	0.95215|0.95215	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	73;92|.	B4DXK8;Q8TED0|.	.;UTP15_HUMAN|.	S|I	92;73|118	ENSP00000296792:G92S;ENSP00000424609:G73S|.	.|.	G|M	+|+	1|3	0|0	UTP15|UTP15	72900091|72900091	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.993000|0.993000	0.82548|0.82548	9.162000|9.162000	0.94745|0.94745	2.596000|2.596000	0.87737|0.87737	0.655000|0.655000	0.94253|0.94253	GGT|ATG		0.423	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		A	72864335	G	A	72864335	3	1	134	1	0	0	0	0	1	0	0	0	17102	1348	47	2	284	2	UTP15	5	72864335	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10		72864335	108050925	34	8007											
CHSY3	337876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	129520692	129520692	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr5:129520692G>C	ENST00000305031.4	+	3	2215	c.1857G>C	c.(1855-1857)aaG>aaC	p.K619N		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	619					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.K619N(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ACAATGAAAAGAAAGTACACA	0.348																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											62	63	63					5																	129520692		2203	4300	6503	SO:0001583	missense	337876			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1857G>C	5.37:g.129520692G>C	ENSP00000302629:p.Lys619Asn		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195538	0.38806	.	.	ENSG00000198108	ENST00000305031	T	0.34859	1.34	4.12	3.25	0.37280	.	0.000000	0.64402	D	0.000020	T	0.43077	0.1231	M	0.61703	1.905	0.45837	D	0.998702	P	0.47191	0.891	P	0.48738	0.588	T	0.38866	-0.9641	9	.	.	.	-7.9195	12.7885	0.57520	0.0811:0.0:0.9189:0.0	.	619	Q70JA7	CHSS3_HUMAN	N	619	ENSP00000302629:K619N	.	K	+	3	2	CHSY3	129548591	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.099000	0.41767	1.309000	0.44985	0.650000	0.86243	AAG		0.348	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		C	129520692	G	C	129520692	3	2	134	1	0	0	0	0	1	0	0	0	3415	933	33	4	1867	4	CHSY3	5	129520692	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	56656357	129520692	51394568	35	8008											
FNIP1	96459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131042127	131042127	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr5:131042127C>G	ENST00000510461.1	-	9	986	c.891G>C	c.(889-891)ttG>ttC	p.L297F	FNIP1_ENST00000511848.1_Missense_Mutation_p.L297F|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.L269F|FNIP1_ENST00000307954.8_Missense_Mutation_p.L252F	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	297					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L297F(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CCCCATTTTCCAAACTTGTTG	0.433																																																1	Substitution - Missense(1)	kidney(1)											97	94	95					5																	131042127		2203	4300	6503	SO:0001583	missense	96459			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.891G>C	5.37:g.131042127C>G	ENSP00000421985:p.Leu297Phe		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228513	0.79576	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.34472	2.2;2.15;2.09;1.36	5.6	1.86	0.25419	.	.	.	.	.	T	0.49712	0.1573	L	0.52126	1.63	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.997	T	0.42275	-0.9461	9	0.54805	T	0.06	-4.1067	10.1562	0.42825	0.0:0.7315:0.0:0.2685	.	297;297;269;297	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	F	269;252;57;297;297	ENSP00000309266:L269F;ENSP00000310453:L252F;ENSP00000421985:L297F;ENSP00000425619:L297F	ENSP00000310453:L252F	L	-	3	2	FNIP1	131070026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.207000	0.42788	0.422000	0.26005	0.591000	0.81541	TTG		0.433	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		G	131042127	C	G	131042127	3	3	134	1	0	0	0	0	1	0	0	0	5977	593	21	4	2649	4	FNIP1	5	131042127	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	1521435	131042127	49873133	36	8009											
SPRY4	81848	hgsc.bcm.edu	37	5	141694415	141694415	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr5:141694415G>A	ENST00000434127.2	-	2	502	c.259C>T	c.(259-261)Cac>Tac	p.H87Y	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Missense_Mutation_p.H110Y	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	87					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAATGGTGGGTGACATCC	0.677									Testicular Cancer, Familial Clustering of																																							0													44	52	49					5																	141694415		2201	4300	6501	SO:0001583	missense	81848	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.259C>T	5.37:g.141694415G>A	ENSP00000399468:p.His87Tyr		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972530	0.74246	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661	T;T	0.65549	-0.16;-0.15	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.80764	0.994;0.979	T	0.72899	-0.4152	10	0.44086	T	0.13	-24.1631	19.982	0.97329	0.0:0.0:1.0:0.0	.	87;87	Q9C004-2;Q9C004	.;SPY4_HUMAN	Y	110;87;87	ENSP00000344967:H110Y;ENSP00000399468:H87Y	ENSP00000344967:H110Y	H	-	1	0	SPRY4	141674599	1.000000	0.71417	0.990000	0.47175	0.433000	0.31745	9.434000	0.97515	2.737000	0.93849	0.561000	0.74099	CAC		0.677	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			A	141694415	G	A	141694415	3	1	134	1	0	0	0	0	1	0	0	0	15113	1348	47	2	644	2	SPRY4	5	141694415	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	10652288	141694415	39220845	37	8010											
CSF1R	1436	broad.mit.edu;hgsc.bcm.edu	37	5	149449864	149449864	+	Splice_Site	SNP	G	G	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr5:149449864G>T	ENST00000286301.3	-	9	1491	c.1200C>A	c.(1198-1200)taC>taA	p.Y400*		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	400					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.Y400*(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCTCTGGGGGGTCTGAGGAAG	0.592																																																2	Substitution - Nonsense(2)	kidney(2)											76	77	77					5																	149449864		2203	4300	6503	SO:0001630	splice_region_variant	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1199-1C>A	5.37:g.149449864G>T			B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Nonsense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349735	0.95830	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	.	.	.	5.89	-1.62	0.08372	.	0.538685	0.16937	N	0.193439	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7074	0.17915	0.4414:0.0:0.4345:0.1241	.	.	.	.	X	400;252	.	ENSP00000286301:Y400X	Y	-	3	2	CSF1R	149430057	0.969000	0.33509	0.970000	0.41538	0.855000	0.48748	-0.049000	0.11924	-0.361000	0.08125	0.561000	0.74099	TAC		0.592	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	Nonsense_Mutation	T	149449864	G	T	149449864	5	4	134	1	0	0	0	0	0	0	1	0	3934	1275	44	4	1774	4	CSF1R	5	149449864	Splice_Site	SNP	G	TCGA-B0-4712-01A-01D-1501-10	7755449	149449864	31465396	38	8011											
NSD1	64324	broad.mit.edu;ucsc.edu	37	5	176636690	176636690	+	Silent	SNP	G	G	A	rs535674820		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr5:176636690G>A	ENST00000439151.2	+	5	1335	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	NSD1_ENST00000361032.4_Silent_p.Q327Q|NSD1_ENST00000347982.4_Silent_p.Q161Q|NSD1_ENST00000354179.4_Silent_p.Q161Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	430					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q430Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGCAGAACAGTATGATGTTC	0.373			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		16581	0.0		0.0	False		,,,				2504	0.0						Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - coding silent(2)	kidney(2)											76	73	74					5																	176636690		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1290G>A	5.37:g.176636690G>A			Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	CCDS4412.1																																																																																				0.373	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		A	176636690	G	A	176636690	2	1	134	1	0	0	0	0	0	0	0	1	10671	1020	36	2		2	NSD1	5	176636690	Silent	SNP	G	TCGA-B0-4712-01A-01D-1501-10	27186826	176636690	4278570	39	8012											
OSBPL3	26031	hgsc.bcm.edu;ucsc.edu	37	7	24839885	24839885	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr7:24839885delC	ENST00000313367.2	-	23	3032	c.2581delG	c.(2581-2583)gacfs	p.D861fs	OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.D794fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.D830fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.D830fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.D825fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.D794fs|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.D825fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	861					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACCCAAGAGTCATCGTCGGAT	0.423																																																0													79	75	76					7																	24839885		2203	4300	6503	SO:0001589	frameshift_variant	26031			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2581delG	7.37:g.24839885delC	ENSP00000315410:p.Asp861fs		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Del	DEL	ENST00000313367.2	37	CCDS5390.1																																																																																				0.423	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			-	24839885	C	-	24839885	7	5	134	1	0	1	0	1	0	0	0	0	11281	826	29	0	86	0	OSBPL3	7	24839885	Frame_Shift_Del	DEL	C	TCGA-B0-4712-01A-01D-1501-10		24839885	134298778	40	8013											
MRPL32	64983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	42974658	42974658	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr7:42974658G>A	ENST00000223324.2	+	2	422	c.235G>A	c.(235-237)Gca>Aca	p.A79T	PSMA2_ENST00000442788.1_5'Flank|PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000445517.1_5'Flank|PSMA2_ENST00000223321.4_5'Flank|MRPL32_ENST00000496564.1_3'UTR	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	79					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A79T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						CTTTTGGATGGCAGCTCCCAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											101	92	95					7																	42974658		2203	4300	6503	SO:0001583	missense	64983			AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"Mitochondrial ribosomal proteins / large subunits"	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.235G>A	7.37:g.42974658G>A	ENSP00000223324:p.Ala79Thr		Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082823	0.94050	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.35	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90644	0.4577	9	0.87932	D	0	-16.2803	13.8769	0.63657	0.0731:0.0:0.9269:0.0	.	79	Q9BYC8	RM32_HUMAN	T	79	.	ENSP00000223324:A79T	A	+	1	0	MRPL32	42941183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.855000	0.99526	1.259000	0.44117	0.650000	0.86243	GCA		0.428	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		A	42974658	G	A	42974658	3	1	134	1	0	0	0	0	1	0	0	0	9797	1203	42	2	241	2	MRPL32	7	42974658	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	18134773	42974658	116164005	41	8014											
PRKAR2B	5577	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	106799894	106799894	+	Splice_Site	SNP	C	C	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr7:106799894C>G	ENST00000265717.4	+	11	1383	c.1124C>G	c.(1123-1125)gCa>gGa	p.A375G		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	375					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.A375G(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTTTTCTCAGCAATGGATGTG	0.353																																																1	Substitution - Missense(1)	kidney(1)											71	67	68					7																	106799894		2203	4300	6503	SO:0001630	splice_region_variant	5577				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.1124-1C>G	7.37:g.106799894C>G			A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435852	0.43224	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.93189	-3.18	5.86	5.86	0.93980	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.104471	0.64402	D	0.000005	D	0.85927	0.5811	N	0.25031	0.7	0.47009	D	0.999287	B	0.06786	0.001	B	0.10450	0.005	T	0.78497	-0.2181	9	.	.	.	.	7.6919	0.28573	0.0:0.8088:0.0:0.1912	.	375	P31323	KAP3_HUMAN	G	375;375;362	ENSP00000265717:A375G	.	A	+	2	0	PRKAR2B	106587130	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.051000	0.57412	2.781000	0.95711	0.650000	0.86243	GCA		0.353	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1		Missense_Mutation	G	106799894	C	G	106799894	5	3	134	1	0	0	0	0	0	0	1	0	12511	724	25	4	1166	4	PRKAR2B	7	106799894	Splice_Site	SNP	C	TCGA-B0-4712-01A-01D-1501-10	63825236	106799894	52338769	42	8015											
LRRC4	64101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127669258	127669258	+	Missense_Mutation	SNP	G	G	A	rs531914482		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr7:127669258G>A	ENST00000249363.3	-	2	1693	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	479	Thr-rich.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T479M(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		ACCAGTGGACGTGGTAGGAAC	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20602	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											167	132	144					7																	127669258		2203	4300	6503	SO:0001583	missense	64101			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1436C>T	7.37:g.127669258G>A	ENSP00000249363:p.Thr479Met		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903056	0.52227	.	.	ENSG00000128594	ENST00000249363	T	0.27890	1.64	4.8	4.8	0.61643	.	0.354305	0.23993	N	0.042560	T	0.35219	0.0924	L	0.52011	1.625	0.43099	D	0.994784	D	0.54397	0.966	P	0.46320	0.512	T	0.19877	-1.0292	10	0.54805	T	0.06	.	15.4005	0.74838	0.0:0.0:1.0:0.0	.	479	Q9HBW1	LRRC4_HUMAN	M	479	ENSP00000249363:T479M	ENSP00000249363:T479M	T	-	2	0	LRRC4	127456494	1.000000	0.71417	0.848000	0.33437	0.982000	0.71751	7.627000	0.83176	2.494000	0.84150	0.561000	0.74099	ACG		0.552	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		A	127669258	G	A	127669258	3	1	134	1	0	0	0	0	1	0	0	0	8999	1145	40	1	529	1	LRRC4	7	127669258	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	20869364	127669258	31469405	43	8016											
TNPO3	23534	broad.mit.edu;ucsc.edu	37	7	128607436	128607436	+	Missense_Mutation	SNP	C	C	A	rs188168905		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr7:128607436C>A	ENST00000265388.5	-	21	2752	c.2609G>T	c.(2608-2610)cGa>cTa	p.R870L	TNPO3_ENST00000482320.1_Missense_Mutation_p.R804L|TNPO3_ENST00000471166.1_Missense_Mutation_p.R904L|TNPO3_ENST00000393245.1_Missense_Mutation_p.R904L|TNPO3_ENST00000471234.1_Missense_Mutation_p.R806L			Q9Y5L0	TNPO3_HUMAN	transportin 3	870					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)	p.R904L(1)|p.R870L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTCTAACCATCGACAAAAAGT	0.408																																					Pancreas(147;583 2585 39696 52331)											2	Substitution - Missense(2)	kidney(2)											95	87	90					7																	128607436		2203	4300	6503	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2609G>T	7.37:g.128607436C>A	ENSP00000265388:p.Arg870Leu		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449664	0.63178	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	.	.	.	5.81	5.81	0.92471	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.31209	0.064;0.313;0.205;0.13	B;B;B;B	0.24541	0.018;0.024;0.054;0.024	T	0.30446	-0.9978	9	0.28530	T	0.3	.	17.5723	0.87937	0.0:1.0:0.0:0.0	.	806;904;870;870	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	L	904;870;804;806;904	.	ENSP00000265388:R870L	R	-	2	0	TNPO3	128394672	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	7.531000	0.81973	2.736000	0.93811	0.655000	0.94253	CGA		0.408	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		A	128607436	C	A	128607436	3	1	134	1	0	0	0	0	1	0	0	0	16342	884	31	4	170	4	TNPO3	7	128607436	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	938178	128607436	30531227	44	8017											
CSMD1	64478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	3253877	3253877	+	Missense_Mutation	SNP	G	G	A	rs373861459		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr8:3253877G>A	ENST00000520002.1	-	18	2990	c.2435C>T	c.(2434-2436)aCc>aTc	p.T812I	CSMD1_ENST00000400186.3_Missense_Mutation_p.T812I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T811I|CSMD1_ENST00000602723.1_Missense_Mutation_p.T812I|CSMD1_ENST00000602557.1_Missense_Mutation_p.T812I|CSMD1_ENST00000539096.1_Missense_Mutation_p.T811I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T811I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	812	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.T811I(1)|p.T540I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GACCTCCAAGGTGTCATAATT	0.522																																																2	Substitution - Missense(2)	kidney(2)						G	ILE/THR	1,4289		0,1,2144	49	61	57		2432	4.4	0.3	8		57	0,8526		0,0,4263	no	missense	CSMD1	NM_033225.5	89	0,1,6407	AA,AG,GG		0.0,0.0233,0.0078	possibly-damaging	811/3565	3253877	1,12815	2145	4263	6408	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2435C>T	8.37:g.3253877G>A	ENSP00000430733:p.Thr812Ile		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	0.006	-2.021559	0.00414	2.33E-4	0.0	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.3	4.42	0.53409	CUB (5);	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	N	0.05441	-0.05	0.42041	D	0.991071	P;B	0.38642	0.641;0.009	P;B	0.56788	0.806;0.05	T	0.48502	-0.9030	10	0.19590	T	0.45	.	9.446	0.38697	0.0748:0.1449:0.7802:0.0	.	812;812	E5RIG2;Q96PZ7	.;CSMD1_HUMAN	I	812;812;674;811;811;811	ENSP00000383047:T812I;ENSP00000430733:T812I;ENSP00000441462:T811I;ENSP00000446243:T811I;ENSP00000441675:T811I	ENSP00000320445:T674I	T	-	2	0	CSMD1	3241284	1.000000	0.71417	0.321000	0.25320	0.001000	0.01503	4.011000	0.57124	1.189000	0.43028	-0.175000	0.13238	ACC		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3253877	G	A	3253877	3	1	134	1	0	0	0	0	1	0	0	0	3946	1261	44	2	8478	2	CSMD1	8	3253877	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10		3253877	143110145	45	8018											
PRDM14	63978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	70978469	70978469	+	Splice_Site	SNP	C	C	A	rs199708096		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr8:70978469C>A	ENST00000276594.2	-	5	1385		c.e5+1			NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14						cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.?(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGTGCACTCACCTTCAGAGGG	0.552																																					NSCLC(129;99 1813 5906 40656 46114)											1	Unknown(1)	kidney(1)											58	62	61					8																	70978469		2203	4300	6503	SO:0001630	splice_region_variant	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1183+1G>T	8.37:g.70978469C>A			Q86UX9	Splice_Site	SNP	ENST00000276594.2	37	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088788	0.36855	.	.	ENSG00000147596	ENST00000276594	.	.	.	5.16	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4453	0.75225	0.0:0.8609:0.1391:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRDM14	71141023	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.035000	0.64158	2.560000	0.86352	0.561000	0.74099	.		0.552	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		Intron	A	70978469	C	A	70978469	5	1	134	1	0	0	0	0	0	0	1	0	12460	521	18	4	547	4	PRDM14	8	70978469	Splice_Site	SNP	C	TCGA-B0-4712-01A-01D-1501-10	67724592	70978469	75385553	46	8019											
TAF2	6873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	120814248	120814248	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr8:120814248A>G	ENST00000378164.2	-	6	876	c.578T>C	c.(577-579)gTt>gCt	p.V193A		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	193					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V193A(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTATGAATCAACACAAGGGAA	0.343																																																2	Substitution - Missense(2)	kidney(2)											60	55	57					8																	120814248		2203	4300	6503	SO:0001583	missense	6873			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.578T>C	8.37:g.120814248A>G	ENSP00000367406:p.Val193Ala		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647970	0.87958	.	.	ENSG00000064313	ENST00000378164	T	0.59906	0.23	5.89	5.89	0.94794	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.85542	2.76	0.80722	D	1	D	0.60160	0.987	D	0.63192	0.912	T	0.81573	-0.0871	10	0.87932	D	0	-21.1168	16.3127	0.82898	1.0:0.0:0.0:0.0	.	193	Q6P1X5	TAF2_HUMAN	A	193	ENSP00000367406:V193A	ENSP00000367406:V193A	V	-	2	0	TAF2	120883429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.288000	0.96055	2.246000	0.74042	0.533000	0.62120	GTT		0.343	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		G	120814248	A	G	120814248	3	3	134	1	0	0	0	0	1	0	0	0	15529	43	2	3	3105	3	TAF2	8	120814248	Missense_Mutation	SNP	A	TCGA-B0-4712-01A-01D-1501-10	49835779	120814248	25549774	47	8020											
COL22A1	169044	broad.mit.edu;hgsc.bcm.edu	37	8	139824101	139824101	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr8:139824101C>T	ENST00000303045.6	-	9	1836	c.1390G>A	c.(1390-1392)Ggc>Agc	p.G464S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G464S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	464	Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G464S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTTCACTGCCTGGGGTGGGA	0.602										HNSCC(7;0.00092)																																						1	Substitution - Missense(1)	kidney(1)											38	33	35					8																	139824101		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1390G>A	8.37:g.139824101C>T	ENSP00000303153:p.Gly464Ser		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783128	0.16189	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.88354	-2.37;-2.29	5.08	3.27	0.37495	.	0.139348	0.32459	U	0.006072	T	0.80486	0.4632	L	0.33485	1.01	0.34148	D	0.667135	B	0.24043	0.096	B	0.22386	0.039	T	0.77308	-0.2636	9	.	.	.	.	8.5535	0.33467	0.0:0.8223:0.0:0.1777	.	464	Q8NFW1	COMA1_HUMAN	S	464	ENSP00000303153:G464S;ENSP00000387655:G464S	.	G	-	1	0	COL22A1	139893283	0.997000	0.39634	0.955000	0.39395	0.920000	0.55202	2.223000	0.42936	1.144000	0.42321	-0.274000	0.10170	GGC		0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139824101	C	T	139824101	3	4	134	1	0	0	0	0	1	0	0	0	3683	681	24	2	3718	2	COL22A1	8	139824101	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	19009853	139824101	6539921	48	8021											
IL33	90865	broad.mit.edu;ucsc.edu	37	9	6252967	6252967	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr9:6252967G>C	ENST00000381434.3	+	4	458	c.445G>C	c.(445-447)Gac>Cac	p.D149H	IL33_ENST00000456383.2_Intron|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	149					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)	p.D149H(1)		breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		ATATGTTGAAGACTTGAAAAA	0.259																																																1	Substitution - Missense(1)	kidney(1)											51	52	52					9																	6252967		2203	4298	6501	SO:0001583	missense	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.445G>C	9.37:g.6252967G>C	ENSP00000370842:p.Asp149His		B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934699	0.34189	.	.	ENSG00000137033	ENST00000381434	T	0.61040	0.14	5.15	4.25	0.50352	.	0.412070	0.20881	N	0.083992	T	0.49677	0.1571	L	0.47190	1.495	0.80722	D	1	P	0.45011	0.848	B	0.39152	0.292	T	0.56625	-0.7948	10	0.87932	D	0	-13.4406	11.9662	0.53035	0.0:0.1737:0.8263:0.0	.	149	O95760	IL33_HUMAN	H	149	ENSP00000370842:D149H	ENSP00000370842:D149H	D	+	1	0	IL33	6242967	0.998000	0.40836	0.295000	0.24960	0.221000	0.24807	1.783000	0.38664	1.528000	0.49103	0.650000	0.86243	GAC		0.259	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		C	6252967	G	C	6252967	3	2	134	1	0	0	0	0	1	0	0	0	7695	942	33	4	459	4	IL33	9	6252967	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10		6252967	134960464	49	8022											
C9orf93	203238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	15724841	15724841	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr9:15724841G>A	ENST00000380701.3	+	14	1887	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	CCDC171_ENST00000297641.3_Missense_Mutation_p.R520Q	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	520								p.R520Q(2)									TGTGCAGACCGAGAGGCTTTA	0.393																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											122	134	130					9																	15724841		2203	4300	6503	SO:0001583	missense	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1559G>A	9.37:g.15724841G>A	ENSP00000370077:p.Arg520Gln		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035823	0.75617	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.50001	0.76;0.76	5.42	5.42	0.78866	.	0.327625	0.33401	N	0.004954	T	0.25791	0.0628	N	0.14661	0.345	0.80722	D	1	P;P;P	0.52463	0.953;0.953;0.953	B;B;B	0.39152	0.292;0.292;0.292	T	0.06023	-1.0850	10	0.12103	T	0.63	-11.2819	11.1066	0.48207	0.1433:0.0:0.8567:0.0	.	528;520;520	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	Q	520	ENSP00000297641:R520Q;ENSP00000370077:R520Q	ENSP00000297641:R520Q	R	+	2	0	C9orf93	15714841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.356000	0.44116	2.716000	0.92895	0.650000	0.86243	CGA		0.393	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		A	15724841	G	A	15724841	3	1	134	1	0	0	0	0	1	0	0	0	2508	1058	37	1	1609	1	C9orf93	9	15724841	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	9471874	15724841	125488590	50	8023											
AQP7	364	hgsc.bcm.edu	37	9	33395108	33395108	+	Silent	SNP	G	G	A	rs2381003	byFrequency	TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr9:33395108G>A	ENST00000539936.1	-	3	350	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	38			L -> V (in dbSNP:rs2381003).		excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AACTCGGCCAGGAACTCTCGC	0.587																																																0													129	86	101					9																	33395108		2203	4300	6503	SO:0001819	synonymous_variant	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.112C>T	9.37:g.33395108G>A			Q08E94|Q5T5L9|Q8NHM3	Silent	SNP	ENST00000539936.1	37																																																																																					0.587	AQP7-203	KNOWN	basic	protein_coding	protein_coding		NM_001170		A	33395108	G	A	33395108	2	1	134	1	0	0	0	0	0	0	0	1	831	991	35	2		2	AQP7	9	33395108	Silent	SNP	G	TCGA-B0-4712-01A-01D-1501-10	17670267	33395108	107818323	51	8024											
SMC2	10592	broad.mit.edu;ucsc.edu	37	9	106864804	106864804	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr9:106864804C>A	ENST00000286398.7	+	9	1258	c.970C>A	c.(970-972)Ctg>Atg	p.L324M	SMC2_ENST00000374793.3_Missense_Mutation_p.L324M|SMC2_ENST00000374787.3_Missense_Mutation_p.L324M|SMC2_ENST00000303219.8_Missense_Mutation_p.L324M	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	324					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.L324M(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAAGAAAAATCTGGCATGTGA	0.403																																																2	Substitution - Missense(2)	kidney(2)											89	89	89					9																	106864804		2203	4300	6503	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.970C>A	9.37:g.106864804C>A	ENSP00000286398:p.Leu324Met		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.715070	0.30413	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	D;D;D;D	0.82711	-1.5;-1.5;-1.64;-1.5	5.79	2.83	0.33086	RecF/RecN/SMC (1);	0.487586	0.20799	N	0.085477	T	0.75413	0.3846	L	0.35288	1.05	0.33209	D	0.553145	B;B;B	0.30361	0.277;0.251;0.056	B;B;B	0.41666	0.363;0.213;0.16	T	0.75221	-0.3394	10	0.40728	T	0.16	-6.5011	3.6685	0.08265	0.3143:0.469:0.0:0.2167	.	324;324;324	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	M	324	ENSP00000286398:L324M;ENSP00000363925:L324M;ENSP00000306152:L324M;ENSP00000363919:L324M	ENSP00000286398:L324M	L	+	1	2	SMC2	105904625	0.996000	0.38824	0.987000	0.45799	0.669000	0.39330	1.472000	0.35376	1.457000	0.47850	0.585000	0.79938	CTG		0.403	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			A	106864804	C	A	106864804	3	1	134	1	0	0	0	0	1	0	0	0	14789	912	32	4	1000	4	SMC2	9	106864804	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	73469696	106864804	34348627	52	8025											
CDK5RAP2	55755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123205921	123205921	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr9:123205921T>A	ENST00000349780.4	-	23	3304	c.3125A>T	c.(3124-3126)gAt>gTt	p.D1042V	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D1010V|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D1042V|CDK5RAP2_ENST00000359309.3_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1042	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.D1042V(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTTTGCTGATCACTGTCCAT	0.473																																																1	Substitution - Missense(1)	kidney(1)											256	226	236					9																	123205921		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3125A>T	9.37:g.123205921T>A	ENSP00000343818:p.Asp1042Val		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644994	0.47258	.	.	ENSG00000136861	ENST00000360822;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T	0.23552	3.57;3.55;3.45;1.9	3.77	-0.00269	0.14028	.	1.528960	0.03973	N	0.291975	T	0.29491	0.0735	L	0.27053	0.805	0.23043	N	0.998387	P;P;D;P;B	0.54601	0.815;0.815;0.967;0.718;0.094	B;B;P;B;B	0.54372	0.39;0.39;0.75;0.218;0.051	T	0.23440	-1.0188	10	0.87932	D	0	.	6.2457	0.20815	0.0:0.3559:0.0:0.6441	.	811;1010;1042;1042;436	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	V	1010;1042;1042;436;814	ENSP00000354065:D1010V;ENSP00000343818:D1042V;ENSP00000353317:D1042V;ENSP00000400395:D436V	ENSP00000341695:D814V	D	-	2	0	CDK5RAP2	122245742	0.498000	0.26075	0.097000	0.21041	0.856000	0.48823	0.515000	0.22801	-0.106000	0.12110	0.379000	0.24179	GAT		0.473	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		A	123205921	T	A	123205921	3	1	134	1	0	0	0	0	1	0	0	0	3148	1435	50	5	2620	5	CDK5RAP2	9	123205921	Missense_Mutation	SNP	T	TCGA-B0-4712-01A-01D-1501-10	16341117	123205921	18007510	53	8026											
DIP2C	22982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	390776	390776	+	Silent	SNP	G	G	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr10:390776G>T	ENST00000280886.6	-	28	3513	c.3426C>A	c.(3424-3426)tcC>tcA	p.S1142S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1142						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S1142S(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCCAGTTGTGGACACGCTGA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											84	73	77					10																	390776		2203	4300	6503	SO:0001819	synonymous_variant	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3426C>A	10.37:g.390776G>T			B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	CCDS7054.1																																																																																				0.587	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	390776	G	T	390776	2	4	134	1	0	0	0	0	0	0	0	1	4531	1335	47	4		4	DIP2C	10	390776	Silent	SNP	G	TCGA-B0-4712-01A-01D-1501-10		390776	135143971	54	8027											
NRBF2	29982	hgsc.bcm.edu	37	10	64913306	64913306	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr10:64913306delT	ENST00000277746.6	+	4	373	c.192delT	c.(190-192)catfs	p.H64fs	NRBF2_ENST00000435510.2_Frame_Shift_Del_p.H54fs	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	64					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGGATAGCCATATGAAACAGC	0.413																																																0													43	46	45					10																	64913306		2203	4300	6503	SO:0001589	frameshift_variant	29982			D82519	CCDS7268.1, CCDS60537.1	10q22.1	2012-11-01			ENSG00000148572	ENSG00000148572			19692	protein-coding gene	gene with protein product	"comodulator of PPAR and RXR 1", "comodulator of PPAR and RXR 2"					10786636	Standard	NM_001282405		Approved	DKFZp564C1664, FLJ30395, COPR1, COPR2	uc001jmj.4	Q96F24	OTTHUMG00000018309	ENST00000277746.6:c.192delT	10.37:g.64913306delT	ENSP00000277746:p.His64fs		A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2	Frame_Shift_Del	DEL	ENST00000277746.6	37	CCDS7268.1																																																																																				0.413	NRBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048247.1	NM_030759		-	64913306	T	-	64913306	7	5	134	1	0	1	0	1	0	0	0	0	10643	1403	49	0	206	0	NRBF2	10	64913306	Frame_Shift_Del	DEL	T	TCGA-B0-4712-01A-01D-1501-10	64522530	64913306	70621441	55	8028											
DHDPSL	112817	broad.mit.edu;hgsc.bcm.edu	37	10	99344532	99344532	+	Silent	SNP	C	C	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr10:99344532C>T	ENST00000370646.4	+	1	433	c.72C>T	c.(70-72)gtC>gtT	p.V24V	PI4K2A_ENST00000370649.3_Silent_p.V24V|HOGA1_ENST00000370647.4_Silent_p.V24V|PI4K2A_ENST00000555577.1_Silent_p.V24V	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	24					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)	p.V24V(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						ATGTGGGGGTCTGGGCCTCAG	0.597																																																2	Substitution - coding silent(2)	kidney(2)											102	106	105					10																	99344532		2203	4300	6503	SO:0001819	synonymous_variant	112817			BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.72C>T	10.37:g.99344532C>T			A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Silent	SNP	ENST00000370646.4	37	CCDS7467.1																																																																																				0.597	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		T	99344532	C	T	99344532	2	4	134	1	0	0	0	0	0	0	0	1	4482	900	32	2		2	DHDPSL	10	99344532	Silent	SNP	C	TCGA-B0-4712-01A-01D-1501-10	34431226	99344532	36190215	56	8029											
CRTAC1	55118	hgsc.bcm.edu	37	10	99683108	99683108	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr10:99683108C>A	ENST00000370597.3	-	4	826	c.471G>T	c.(469-471)tgG>tgT	p.W157C	CRTAC1_ENST00000370591.2_Missense_Mutation_p.W157C|CRTAC1_ENST00000298819.4_Missense_Mutation_p.W157C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	157						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGATGTCTTCCCACCGGTTAT	0.602																																																0													115	86	96					10																	99683108		2203	4300	6503	SO:0001583	missense	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.471G>T	10.37:g.99683108C>A	ENSP00000359629:p.Trp157Cys		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184829	0.57909	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.17	5.17	0.71159	.	0.123558	0.56097	D	0.000022	T	0.40932	0.1137	L	0.55990	1.75	0.80722	D	1	D;D	0.71674	0.998;0.985	P;P	0.61722	0.893;0.49	T	0.18023	-1.0350	10	0.56958	D	0.05	-13.9752	18.66	0.91469	0.0:1.0:0.0:0.0	.	157;157	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	C	53;157;157;149;157	ENSP00000408445:W53C;ENSP00000359629:W157C;ENSP00000298819:W157C;ENSP00000310810:W149C;ENSP00000359623:W157C	ENSP00000298819:W157C	W	-	3	0	CRTAC1	99673098	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.947000	0.49058	2.419000	0.82065	0.563000	0.77884	TGG		0.602	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		A	99683108	C	A	99683108	3	1	134	1	0	0	0	0	1	0	0	0	3898	624	22	4	1562	4	CRTAC1	10	99683108	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	338576	99683108	35851639	57	8030											
ATRNL1	26033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	116881513	116881513	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr10:116881513G>C	ENST00000355044.3	+	3	554	c.428G>C	c.(427-429)aGc>aCc	p.S143T	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.S143T	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	143	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S143T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACAGAATGTAGCTGGGATCAT	0.289																																																1	Substitution - Missense(1)	kidney(1)											110	113	112					10																	116881513		2203	4285	6488	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.428G>C	10.37:g.116881513G>C	ENSP00000347152:p.Ser143Thr		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477390	0.84640	.	.	ENSG00000107518	ENST00000526946;ENST00000355044	T;T	0.50813	0.73;0.73	5.26	5.26	0.73747	CUB (5);	0.040777	0.85682	D	0.000000	T	0.62551	0.2437	L	0.49256	1.55	0.80722	D	1	D;D;D	0.71674	0.989;0.975;0.998	P;P;D	0.63488	0.87;0.85;0.915	T	0.59236	-0.7492	10	0.39692	T	0.17	-19.4284	19.2144	0.93770	0.0:0.0:1.0:0.0	.	76;143;143	E9PL90;Q5VV63;Q5VV63-2	.;ATRN1_HUMAN;.	T	76;143	ENSP00000431423:S76T;ENSP00000347152:S143T	ENSP00000347152:S143T	S	+	2	0	ATRNL1	116871503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.616000	0.88540	0.563000	0.77884	AGC		0.289	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		C	116881513	G	C	116881513	3	2	134	1	0	0	0	0	1	0	0	0	1207	971	34	4	438	4	ATRNL1	10	116881513	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	17198405	116881513	18653234	58	8031											
DMBT1	1755	hgsc.bcm.edu	37	10	124345866	124345866	+	Missense_Mutation	SNP	G	G	C	rs577720017	byFrequency	TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr10:124345866G>C	ENST00000338354.3	+	16	1856	c.1750G>C	c.(1750-1752)Ggc>Cgc	p.G584R	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G584R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G574R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G574R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	584	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCATAACTGTGGCCATAGTGA	0.527													G|||	2	0.000399361	0.0	0.0	5008	,	,		18532	0.0		0.001	False		,,,				2504	0.001				Ovarian(182;93 2026 18125 22222 38972)											0													138	99	112					10																	124345866		1948	4089	6037	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1750G>C	10.37:g.124345866G>C	ENSP00000342210:p.Gly584Arg		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	G	3.393	-0.123997	0.06795	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.5	-6.33	0.01988	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.17109	0.0411	L	0.37897	1.145	0.33680	D	0.612021	B;B;B	0.22909	0.063;0.063;0.077	B;B;B	0.19946	0.016;0.016;0.027	T	0.39143	-0.9628	9	0.13108	T	0.6	.	8.7636	0.34689	0.3162:0.4756:0.2082:0.0	.	584;574;584	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	R	584;584;584;584;584;584;574;584;574	ENSP00000342210:G584R;ENSP00000343175:G574R;ENSP00000357905:G584R;ENSP00000357951:G574R	ENSP00000342210:G584R	G	+	1	0	DMBT1	124335856	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.631000	0.00871	-0.964000	0.03595	-0.564000	0.04169	GGC		0.527	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		C	124345866	G	C	124345866	3	2	134	1	0	0	0	0	1	0	0	0	4579	1348	47	4	1812	4	DMBT1	10	124345866	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	7464353	124345866	11188881	59	8032											
MUC6	4588	broad.mit.edu	37	11	1021245	1021245	+	Missense_Mutation	SNP	C	C	T	rs202188897	byFrequency	TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr11:1021245C>T	ENST00000421673.2	-	27	3609	c.3559G>A	c.(3559-3561)Gac>Aac	p.D1187N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1187					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.D1187N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCTCGTGGTCGAAGTACTCA	0.642													c|||	5	0.000998403	0.0	0.0	5008	,	,		15857	0.001		0.001	False		,,,				2504	0.0031															2	Substitution - Missense(2)	kidney(2)							ASN/ASP	0,4236		0,0,2118	61	67	65		3559	1.8	0.9	11		65	2,8418		0,2,4208	yes	missense	MUC6	NM_005961.2	23	0,2,6326	TT,TC,CC		0.0238,0.0,0.0158	possibly-damaging	1187/2440	1021245	2,12654	2118	4210	6328	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3559G>A	11.37:g.1021245C>T	ENSP00000406861:p.Asp1187Asn		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	13.23	2.174891	0.38413	0.0	2.38E-4	ENSG00000184956	ENST00000421673	T	0.22945	1.93	2.75	1.8	0.24995	.	.	.	.	.	T	0.14830	0.0358	L	0.41573	1.285	0.24816	N	0.992619	P	0.46784	0.884	B	0.31245	0.126	T	0.12344	-1.0551	9	0.36615	T	0.2	.	7.0795	0.25223	0.0:0.862:0.0:0.138	.	1187	Q6W4X9	MUC6_HUMAN	N	1187	ENSP00000406861:D1187N	ENSP00000406861:D1187N	D	-	1	0	MUC6	1011245	0.999000	0.42202	0.860000	0.33809	0.884000	0.51177	2.316000	0.43761	0.273000	0.22049	0.290000	0.19541	GAC		0.642	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1021245	C	T	1021245	3	4	134	1	0	0	0	0	1	0	0	0	9982	884	31	1	3788	1	MUC6	11	1021245	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10		1021245	133985271	60	8033											
OR51T1	401665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4903717	4903717	+	Silent	SNP	C	C	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr11:4903717C>T	ENST00000322049.1	+	1	588	c.588C>T	c.(586-588)atC>atT	p.I196I	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Silent_p.I223I|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I223I(1)|p.I196I(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACCTTGGATCAGCAGTTTTT	0.443																																																2	Substitution - coding silent(2)	kidney(2)											154	144	147					11																	4903717		2201	4298	6499	SO:0001819	synonymous_variant	401665			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.588C>T	11.37:g.4903717C>T			Q6IFH9	Silent	SNP	ENST00000322049.1	37																																																																																					0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		T	4903717	C	T	4903717	2	4	134	1	0	0	0	0	0	0	0	1	11108	816	29	2		2	OR51T1	11	4903717	Silent	SNP	C	TCGA-B0-4712-01A-01D-1501-10	3882472	4903717	130102799	61	8034											
SLC17A6	57084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22364813	22364813	+	Missense_Mutation	SNP	C	C	A	rs373587525		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr11:22364813C>A	ENST00000263160.3	+	3	797	c.360C>A	c.(358-360)gaC>gaA	p.D120E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	120					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.D120E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCAACTGGGACCCGGAAACCG	0.517																																																1	Substitution - Missense(1)	kidney(1)											95	104	101					11																	22364813		2203	4300	6503	SO:0001583	missense	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.360C>A	11.37:g.22364813C>A	ENSP00000263160:p.Asp120Glu		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978623	0.74360	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.60040	0.22	5.4	3.51	0.40186	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	M	0.81179	2.53	0.50813	D	0.999899	P	0.51653	0.947	P	0.55222	0.771	T	0.70174	-0.4944	10	0.59425	D	0.04	.	8.1357	0.31054	0.0:0.7373:0.0:0.2627	.	120	Q9P2U8	VGLU2_HUMAN	E	120;8	ENSP00000263160:D120E	ENSP00000263160:D120E	D	+	3	2	SLC17A6	22321389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.671000	0.25172	2.517000	0.84864	0.655000	0.94253	GAC		0.517	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		A	22364813	C	A	22364813	3	1	134	1	0	0	0	0	1	0	0	0	14427	506	18	4	370	4	SLC17A6	11	22364813	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	17461096	22364813	112641703	62	8035											
GLYAT	10249	broad.mit.edu;ucsc.edu	37	11	58477555	58477555	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr11:58477555C>A	ENST00000344743.3	-	6	716	c.575G>T	c.(574-576)aGg>aTg	p.R192M	GLYAT_ENST00000529732.1_Missense_Mutation_p.R192M|GLYAT_ENST00000278400.3_Intron	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	192					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)	p.R192M(1)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TCTCTGGCTCCTCTCATTACC	0.502																																																1	Substitution - Missense(1)	kidney(1)											74	74	74					11																	58477555		2201	4295	6496	SO:0001583	missense	10249			AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.575G>T	11.37:g.58477555C>A	ENSP00000340200:p.Arg192Met		O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156772	0.38119	.	.	ENSG00000149124	ENST00000344743;ENST00000529732	T;T	0.19532	2.14;2.14	6.06	1.98	0.26296	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.378676	0.30374	N	0.009779	T	0.46034	0.1372	M	0.90759	3.145	0.80722	D	1	D	0.60575	0.988	D	0.63488	0.915	T	0.46735	-0.9170	10	0.87932	D	0	-18.0766	8.1332	0.31039	0.0:0.6553:0.0:0.3447	.	192	Q6IB77	GLYAT_HUMAN	M	192	ENSP00000340200:R192M;ENSP00000431688:R192M	ENSP00000340200:R192M	R	-	2	0	GLYAT	58234131	0.097000	0.21791	0.991000	0.47740	0.028000	0.11728	0.130000	0.15850	0.400000	0.25396	-0.355000	0.07637	AGG		0.502	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			A	58477555	C	A	58477555	3	1	134	1	0	0	0	0	1	0	0	0	6481	681	24	4	319	4	GLYAT	11	58477555	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	36112742	58477555	76528961	63	8036											
MS4A6E	245802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60102420	60102420	+	Missense_Mutation	SNP	G	G	C	rs200264244		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr11:60102420G>C	ENST00000300182.4	+	1	117	c.52G>C	c.(52-54)Gtc>Ctc	p.V18L		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	18						integral component of membrane (GO:0016021)		p.V18L(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CCCATCAAATGTCATCAACTT	0.418																																																1	Substitution - Missense(1)	kidney(1)											166	147	153					11																	60102420		2203	4300	6503	SO:0001583	missense	245802			AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.52G>C	11.37:g.60102420G>C	ENSP00000300182:p.Val18Leu		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231224	0.22626	.	.	ENSG00000166926	ENST00000300182	T	0.09723	2.95	2.4	2.4	0.29515	.	1.001370	0.08053	N	0.996871	T	0.08133	0.0203	N	0.22421	0.69	0.09310	N	1	B	0.22003	0.063	B	0.11329	0.006	T	0.28681	-1.0036	10	0.41790	T	0.15	.	8.2277	0.31579	0.0:0.0:1.0:0.0	.	18	Q96DS6	M4A6E_HUMAN	L	18	ENSP00000300182:V18L	ENSP00000300182:V18L	V	+	1	0	MS4A6E	59858996	0.032000	0.19561	0.008000	0.14137	0.199000	0.23934	2.213000	0.42844	1.317000	0.45149	0.305000	0.20034	GTC		0.418	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			C	60102420	G	C	60102420	3	2	134	1	0	0	0	0	1	0	0	0	9867	1377	48	4	54	4	MS4A6E	11	60102420	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	1624865	60102420	74904096	64	8037											
MTA2	9219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62362921	62362921	+	Missense_Mutation	SNP	C	C	T	rs139421444		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr11:62362921C>T	ENST00000278823.2	-	14	1687	c.1298G>A	c.(1297-1299)aGt>aAt	p.S433N	MTA2_ENST00000524902.1_Missense_Mutation_p.S260N|MTA2_ENST00000527204.1_Missense_Mutation_p.S260N	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	433					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S433N(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGGAGAGAGACTTTGAGCTTC	0.502																																																1	Substitution - Missense(1)	kidney(1)						C	ASN/SER	0,4404		0,0,2202	163	147	152		1298	5.2	1	11	dbSNP_134	152	1,8597	1.2+/-3.3	0,1,4298	yes	missense	MTA2	NM_004739.3	46	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	433/669	62362921	1,13001	2202	4299	6501	SO:0001583	missense	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1298G>A	11.37:g.62362921C>T	ENSP00000278823:p.Ser433Asn		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	8.355	0.831871	0.16820	0.0	1.16E-4	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.44482	1.51;0.92;0.92	5.19	5.19	0.71726	.	0.235594	0.50627	D	0.000119	T	0.27419	0.0673	N	0.17082	0.46	0.50467	D	0.999876	B	0.25105	0.118	B	0.21151	0.033	T	0.07986	-1.0744	10	0.14656	T	0.56	-7.8749	16.1912	0.81989	0.0:1.0:0.0:0.0	.	433	O94776	MTA2_HUMAN	N	433;260;260	ENSP00000278823:S433N;ENSP00000431346:S260N;ENSP00000431797:S260N	ENSP00000278823:S433N	S	-	2	0	MTA2	62119497	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.065000	0.49994	2.419000	0.82065	0.655000	0.94253	AGT		0.502	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		T	62362921	C	T	62362921	3	4	134	1	0	0	0	0	1	0	0	0	9911	565	20	2	728	2	MTA2	11	62362921	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	2260501	62362921	72643595	65	8038											
NNMT	4837	broad.mit.edu;hgsc.bcm.edu	37	11	114183068	114183068	+	Missense_Mutation	SNP	G	G	C	rs201804258		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr11:114183068G>C	ENST00000535401.1	+	5	928	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	NNMT_ENST00000545255.1_Missense_Mutation_p.E27Q|NNMT_ENST00000542647.1_Missense_Mutation_p.E27Q|NNMT_ENST00000299964.3_Missense_Mutation_p.E222Q|NNMT_ENST00000541754.1_Missense_Mutation_p.E27Q|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	222					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)	p.E222Q(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGAGGCAGTAGAGGCTGCTGT	0.542																																																1	Substitution - Missense(1)	kidney(1)											62	66	65					11																	114183068		2201	4296	6497	SO:0001583	missense	4837			U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.664G>C	11.37:g.114183068G>C	ENSP00000441434:p.Glu222Gln			Missense_Mutation	SNP	ENST00000535401.1	37	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	G	7.740	0.701011	0.15172	.	.	ENSG00000166741	ENST00000535401;ENST00000299964;ENST00000541754;ENST00000542647;ENST00000545255	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	5.06	-0.323	0.12709	.	0.414156	0.23483	N	0.047689	T	0.06005	0.0156	L	0.33485	1.01	0.09310	N	1	P	0.39044	0.656	B	0.36922	0.236	T	0.38478	-0.9659	10	0.17832	T	0.49	-5.6098	4.6744	0.12705	0.3433:0.2998:0.3569:0.0	.	222	P40261	NNMT_HUMAN	Q	222;222;27;27;27	ENSP00000441434:E222Q;ENSP00000299964:E222Q;ENSP00000445680:E27Q;ENSP00000445994:E27Q;ENSP00000445248:E27Q	ENSP00000299964:E222Q	E	+	1	0	NNMT	113688278	0.027000	0.19231	0.001000	0.08648	0.079000	0.17450	0.262000	0.18460	-0.354000	0.08212	-0.136000	0.14681	GAG		0.542	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		C	114183068	G	C	114183068	3	2	134	1	0	0	0	0	1	0	0	0	10511	943	33	4	674	4	NNMT	11	114183068	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	51820147	114183068	20823448	66	8039											
SLC6A12	6539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	319083	319083	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr12:319083T>C	ENST00000428720.1	-	3	813	c.70A>G	c.(70-72)Aag>Gag	p.K24E	SLC6A12_ENST00000536824.1_Missense_Mutation_p.K24E|SLC6A12_ENST00000397296.2_Missense_Mutation_p.K24E|SLC6A12_ENST00000424061.2_Missense_Mutation_p.K24E|SLC6A12_ENST00000359674.4_Missense_Mutation_p.K24E	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	24					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.K24E(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGGTCCAACTTCTCTCCCTCC	0.622																																																1	Substitution - Missense(1)	kidney(1)											145	122	130					12																	319083		2203	4300	6503	SO:0001583	missense	6539			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.70A>G	12.37:g.319083T>C	ENSP00000388184:p.Lys24Glu		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	T	4.862	0.160226	0.09287	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824;ENST00000537793;ENST00000535347	T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.37;0.68	5.33	4.18	0.49190	.	0.797910	0.11225	N	0.586291	T	0.45498	0.1345	N	0.14661	0.345	0.21473	N	0.999671	B	0.02656	0.0	B	0.04013	0.001	T	0.44982	-0.9292	10	0.02654	T	1	.	5.1352	0.14932	0.0:0.1464:0.1627:0.6908	.	24	P48065	S6A12_HUMAN	E	24	ENSP00000352702:K24E;ENSP00000380464:K24E;ENSP00000388184:K24E;ENSP00000399136:K24E;ENSP00000444268:K24E;ENSP00000439351:K24E;ENSP00000446082:K24E	ENSP00000352702:K24E	K	-	1	0	SLC6A12	189344	0.003000	0.15002	0.503000	0.27626	0.192000	0.23643	1.173000	0.31920	2.135000	0.66039	0.460000	0.39030	AAG		0.622	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		C	319083	T	C	319083	3	2	134	1	0	0	0	0	1	0	0	0	14681	1792	62	3	1830	3	SLC6A12	12	319083	Missense_Mutation	SNP	T	TCGA-B0-4712-01A-01D-1501-10		319083	133532812	67	8040											
UHRF1BP1L	23074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100478292	100478292	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr12:100478292T>A	ENST00000279907.7	-	10	1462	c.1250A>T	c.(1249-1251)aAa>aTa	p.K417I	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.K67I|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.K417I	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	417								p.K417I(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTTGGGGATTTAGGAGGTGA	0.408																																																2	Substitution - Missense(2)	kidney(2)											279	233	249					12																	100478292		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1250A>T	12.37:g.100478292T>A	ENSP00000279907:p.Lys417Ile		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.569634	0.45798	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000551973	T;T;T;T	0.35048	2.75;2.72;1.39;1.33	5.48	3.04	0.35103	.	0.351569	0.28612	N	0.014734	T	0.31702	0.0805	L	0.40543	1.245	0.38662	D	0.952095	B;B	0.28324	0.207;0.059	B;B	0.30646	0.118;0.031	T	0.16276	-1.0408	10	0.51188	T	0.08	-11.333	13.4774	0.61316	0.0:0.0:0.3672:0.6328	.	417;417	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	I	417;67;417;67	ENSP00000279907:K417I;ENSP00000444824:K67I;ENSP00000349285:K417I;ENSP00000448226:K67I	ENSP00000279907:K417I	K	-	2	0	UHRF1BP1L	99002423	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.108000	0.31123	0.428000	0.26173	-0.323000	0.08544	AAA		0.408	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		A	100478292	T	A	100478292	3	1	134	1	0	0	0	0	1	0	0	0	16974	1841	64	5	3216	5	UHRF1BP1L	12	100478292	Missense_Mutation	SNP	T	TCGA-B0-4712-01A-01D-1501-10	100159209	100478292	33373603	68	8041											
SLC17A8	246213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100813894	100813894	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr12:100813894C>T	ENST00000323346.5	+	12	2040	c.1727C>T	c.(1726-1728)aCa>aTa	p.T576I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.T526I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	576					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.T576I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GAAGAGCTGACATCCTACCAG	0.428																																																1	Substitution - Missense(1)	kidney(1)											78	69	72					12																	100813894		2203	4300	6503	SO:0001583	missense	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1727C>T	12.37:g.100813894C>T	ENSP00000316909:p.Thr576Ile		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	4.291	0.053131	0.08291	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.68903	0.07;-0.36	4.8	2.95	0.34219	.	0.546235	0.20488	N	0.091353	T	0.40839	0.1133	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20042	-1.0287	10	0.34782	T	0.22	.	5.6785	0.17761	0.1561:0.6785:0.0:0.1654	.	576;526	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	576;526	ENSP00000316909:T576I;ENSP00000376715:T526I	ENSP00000316909:T576I	T	+	2	0	SLC17A8	99338025	0.000000	0.05858	0.061000	0.19648	0.711000	0.40976	0.062000	0.14389	0.549000	0.28973	0.591000	0.81541	ACA		0.428	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		T	100813894	C	T	100813894	3	4	134	1	0	0	0	0	1	0	0	0	14429	478	17	2	1773	2	SLC17A8	12	100813894	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	335602	100813894	33038001	69	8042											
NT5DC3	51559	broad.mit.edu;hgsc.bcm.edu	37	12	104208888	104208888	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr12:104208888A>C	ENST00000392876.3	-	2	260	c.220T>G	c.(220-222)Tcc>Gcc	p.S74A		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	74						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.S74A(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CTCATAATGGAAGGAACCAAT	0.303																																																1	Substitution - Missense(1)	kidney(1)											56	52	53					12																	104208888		2203	4300	6503	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.220T>G	12.37:g.104208888A>C	ENSP00000376615:p.Ser74Ala		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.215365	0.39102	.	.	ENSG00000111696	ENST00000392876	T	0.21932	1.98	5.87	5.87	0.94306	.	0.339432	0.27851	U	0.017584	T	0.16896	0.0406	L	0.29908	0.895	0.40947	D	0.984517	B	0.06786	0.001	B	0.06405	0.002	T	0.09574	-1.0668	10	0.13853	T	0.58	-12.7682	16.5764	0.84681	1.0:0.0:0.0:0.0	.	74	Q86UY8	NT5D3_HUMAN	A	74	ENSP00000376615:S74A	ENSP00000376615:S74A	S	-	1	0	NT5DC3	102733018	1.000000	0.71417	0.570000	0.28473	0.992000	0.81027	3.578000	0.53892	2.371000	0.80710	0.533000	0.62120	TCC		0.303	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		C	104208888	A	C	104208888	3	2	134	1	0	0	0	0	1	0	0	0	10694	246	9	5	1478	5	NT5DC3	12	104208888	Missense_Mutation	SNP	A	TCGA-B0-4712-01A-01D-1501-10	3394994	104208888	29643007	70	8043											
STARD13	90627	broad.mit.edu;hgsc.bcm.edu	37	13	33684212	33684212	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr13:33684212G>T	ENST00000336934.5	-	12	2961	c.2845C>A	c.(2845-2847)Ccg>Acg	p.P949T	STARD13_ENST00000399365.3_Missense_Mutation_p.P831T|STARD13_ENST00000255486.4_Missense_Mutation_p.P941T	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	949	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.P949T(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGCTTCAGCGGGTTCCCGTCG	0.547											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											44	42	43					13																	33684212		2203	4300	6503	SO:0001583	missense	90627			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2845C>A	13.37:g.33684212G>T	ENSP00000338785:p.Pro949Thr	841	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461316	0.84317	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.32023	1.47;1.47;1.47	5.34	5.34	0.76211	Lipid-binding START (3);START-like domain (1);	0.053197	0.85682	D	0.000000	T	0.60728	0.2291	M	0.89785	3.06	0.80722	D	1	D;D;P	0.56968	0.973;0.978;0.878	D;D;P	0.69654	0.942;0.965;0.904	T	0.67841	-0.5566	10	0.87932	D	0	.	12.7228	0.57152	0.0755:0.0:0.9245:0.0	.	914;949;941	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	T	831;941;949	ENSP00000382300:P831T;ENSP00000255486:P941T;ENSP00000338785:P949T	ENSP00000255486:P941T	P	-	1	0	STARD13	32582212	1.000000	0.71417	0.858000	0.33744	0.940000	0.58332	7.900000	0.87376	2.657000	0.90304	0.655000	0.94253	CCG		0.547	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		T	33684212	G	T	33684212	3	4	134	1	0	0	0	0	1	0	0	0	15261	1232	43	4	508	4	STARD13	13	33684212	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10		33684212	81485666	71	8044											
SUGT1	10910	broad.mit.edu;hgsc.bcm.edu	37	13	53231666	53231666	+	Splice_Site	SNP	G	G	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr13:53231666G>C	ENST00000343788.6	+	3	178		c.e3-1		SUGT1_ENST00000483074.1_Splice_Site|SUGT1_ENST00000535397.1_Splice_Site|SUGT1_ENST00000310528.8_Splice_Site	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)						innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.?(2)		kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		TGTTTTTGTAGGAGCTGACTA	0.338																																																2	Unknown(2)	kidney(2)											73	65	68					13																	53231666		2203	4300	6503	SO:0001630	splice_region_variant	10910			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.97-1G>C	13.37:g.53231666G>C			A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Splice_Site	SNP	ENST00000343788.6	37	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171794	0.57584	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6949	0.77488	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUGT1	52129667	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.982000	0.76173	2.047000	0.60756	0.467000	0.42956	.		0.338	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2		Intron	C	53231666	G	C	53231666	5	2	134	1	0	0	0	0	0	0	1	0	15374	1014	35	4	106	4	SUGT1	13	53231666	Splice_Site	SNP	G	TCGA-B0-4712-01A-01D-1501-10	19547454	53231666	61938212	72	8045											
DOCK9	23348	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	99505670	99505670	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr13:99505670A>T	ENST00000376460.1	-	35	4018	c.3938T>A	c.(3937-3939)aTg>aAg	p.M1313K	DOCK9_ENST00000339416.2_Missense_Mutation_p.M1314K|DOCK9_ENST00000448493.2_Missense_Mutation_p.M1325K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1314					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M1314K(1)|p.M1325K(1)|p.M1313K(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACCATCAGACATGCTCTTTAA	0.368																																																3	Substitution - Missense(3)	kidney(3)											191	185	187					13																	99505670		1859	4096	5955	SO:0001583	missense	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3938T>A	13.37:g.99505670A>T	ENSP00000365643:p.Met1313Lys		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.900440	0.92035	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493;ENST00000449796	T;T;T;T	0.20463	2.37;2.45;2.07;3.59	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.54323	1.7	0.80722	D	1	D;P;D	0.61697	0.99;0.759;0.959	D;B;B	0.69142	0.962;0.352;0.326	T	0.20874	-1.0262	10	0.72032	D	0.01	-32.1826	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1314;1313;1314	A8MWZ5;Q9BZ29-5;Q9BZ29	.;.;DOCK9_HUMAN	K	1313;1314;1314;1314;1313;244;1314;1325;65	ENSP00000365643:M1313K;ENSP00000341086:M1314K;ENSP00000401958:M1325K;ENSP00000403528:M65K	ENSP00000341086:M1314K	M	-	2	0	DOCK9	98303671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.900000	0.92551	2.367000	0.80283	0.528000	0.53228	ATG		0.368	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		T	99505670	A	T	99505670	3	4	134	1	0	0	0	0	1	0	0	0	4696	217	8	5	2352	5	DOCK9	13	99505670	Missense_Mutation	SNP	A	TCGA-B0-4712-01A-01D-1501-10	46274004	99505670	15664208	73	8046											
OR4N2	390429	broad.mit.edu	37	14	20296229	20296229	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr14:20296229C>A	ENST00000315947.1	+	1	622	c.622C>A	c.(622-624)Ctc>Atc	p.L208I	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L208I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTGATGACACTCCTGTGCTT	0.517																																																1	Substitution - Missense(1)	kidney(1)											135	134	135					14																	20296229		2203	4300	6503	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.622C>A	14.37:g.20296229C>A	ENSP00000319601:p.Leu208Ile		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	10.98	1.504857	0.26949	.	.	ENSG00000176294	ENST00000315947	T	0.39406	1.08	4.52	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000512	T	0.42314	0.1197	L	0.48362	1.52	0.09310	N	1	P	0.39903	0.694	P	0.49683	0.619	T	0.19418	-1.0306	10	0.38643	T	0.18	-12.3251	6.1749	0.20439	0.0:0.7981:0.0:0.2019	.	208	Q8NGD1	OR4N2_HUMAN	I	208	ENSP00000319601:L208I	ENSP00000319601:L208I	L	+	1	0	OR4N2	19366069	0.000000	0.05858	0.022000	0.16811	0.377000	0.30045	-0.872000	0.04219	2.483000	0.83821	0.585000	0.79938	CTC		0.517	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			A	20296229	C	A	20296229	3	1	134	1	0	0	0	0	1	0	0	0	11079	565	20	4	624	4	OR4N2	14	20296229	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10		20296229	87053311	74	8047											
FBXO34	55030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55817459	55817459	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr14:55817459G>T	ENST00000313833.4	+	2	596	c.351G>T	c.(349-351)aaG>aaT	p.K117N	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.K117N	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	117								p.K117N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAAATACCAAGGAAAAAATTG	0.408																																																1	Substitution - Missense(1)	kidney(1)											58	62	60					14																	55817459		2203	4300	6503	SO:0001583	missense	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.351G>T	14.37:g.55817459G>T	ENSP00000313159:p.Lys117Asn		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189709	0.57909	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.29397	1.57;1.57	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.74258	2.255	0.58432	D	0.999996	D	0.89917	1.0	D	0.81914	0.995	T	0.61734	-0.7002	10	0.87932	D	0	-17.2291	18.7952	0.91991	0.0:0.0:1.0:0.0	.	117	Q9NWN3	FBX34_HUMAN	N	117	ENSP00000313159:K117N;ENSP00000394117:K117N	ENSP00000313159:K117N	K	+	3	2	FBXO34	54887212	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.969000	0.49232	2.675000	0.91044	0.655000	0.94253	AAG		0.408	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			T	55817459	G	T	55817459	3	4	134	1	0	0	0	0	1	0	0	0	5746	991	35	4	353	4	FBXO34	14	55817459	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	35521230	55817459	51532081	75	8048											
WARS	7453	broad.mit.edu	37	14	100809696	100809696	+	Silent	SNP	A	A	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr14:100809696A>G	ENST00000355338.2	-	8	1473	c.855T>C	c.(853-855)gcT>gcC	p.A285A	RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Silent_p.A244A|WARS_ENST00000344102.5_Silent_p.A244A|WARS_ENST00000392882.2_Silent_p.A285A|WARS_ENST00000358655.4_Silent_p.A244A|WARS_ENST00000557135.1_Silent_p.A285A|RP11-638I2.9_ENST00000556212.1_RNA	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	285					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.A285A(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	AGGAGGGAGCAGCCTGGATGG	0.453																																																1	Substitution - coding silent(1)	kidney(1)											104	89	94					14																	100809696		2203	4300	6503	SO:0001819	synonymous_variant	7453			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.855T>C	14.37:g.100809696A>G			A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Silent	SNP	ENST00000355338.2	37	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.650191	0.29336	.	.	ENSG00000140105	ENST00000554601	.	.	.	6.07	-6.54	0.01860	.	.	.	.	.	T	0.48114	0.1482	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51965	-0.8638	4	.	.	.	-3.2056	7.8711	0.29567	0.6946:0.096:0.1131:0.0963	.	.	.	.	P	38	.	.	L	-	2	0	WARS	99879449	0.000000	0.05858	0.751000	0.31187	0.987000	0.75469	-1.836000	0.01690	-0.971000	0.03564	-1.007000	0.02485	CTG		0.453	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		G	100809696	A	G	100809696	2	3	134	1	0	0	0	0	0	0	0	1	17254	175	7	3		3	WARS	14	100809696	Silent	SNP	A	TCGA-B0-4712-01A-01D-1501-10	44992237	100809696	6539844	76	8049											
TECPR2	9895	broad.mit.edu;hgsc.bcm.edu	37	14	102916037	102916037	+	Silent	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr14:102916037G>A	ENST00000359520.7	+	14	3373	c.3147G>A	c.(3145-3147)tcG>tcA	p.S1049S	TECPR2_ENST00000558678.1_Silent_p.S1049S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1049					autophagy (GO:0006914)|cell death (GO:0008219)			p.S1049S(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCACTCACTCGGTGGCCACAG	0.562																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											116	107	110					14																	102916037		2203	4300	6503	SO:0001819	synonymous_variant	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3147G>A	14.37:g.102916037G>A			A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	CCDS32162.1																																																																																				0.562	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		A	102916037	G	A	102916037	2	1	134	1	0	0	0	0	0	0	0	1	15749	1103	39	1		1	TECPR2	14	102916037	Silent	SNP	G	TCGA-B0-4712-01A-01D-1501-10	2106341	102916037	4433503	77	8050											
DLL4	54567	broad.mit.edu;hgsc.bcm.edu	37	15	41223809	41223809	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr15:41223809G>A	ENST00000249749.5	+	4	779	c.503G>A	c.(502-504)cGc>cAc	p.R168H		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	168					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.R168H(1)		breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAAGGCTGCGCTACTCTTAC	0.552																																																1	Substitution - Missense(1)	kidney(1)											57	63	61					15																	41223809		2062	4206	6268	SO:0001583	missense	54567			AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"delta-like 4 homolog (Drosophila)"			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.503G>A	15.37:g.41223809G>A	ENSP00000249749:p.Arg168His		Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320897	0.81469	.	.	ENSG00000128917	ENST00000249749	D	0.96041	-3.89	5.84	4.87	0.63330	Delta/Serrate/lag-2 (DSL) protein (2);	0.094831	0.64402	D	0.000001	D	0.93536	0.7937	L	0.48218	1.51	0.33767	D	0.622552	P	0.44690	0.841	P	0.47206	0.541	D	0.94424	0.7643	10	0.44086	T	0.13	.	9.1987	0.37244	0.0722:0.0:0.7812:0.1466	.	168	Q9NR61	DLL4_HUMAN	H	168	ENSP00000249749:R168H	ENSP00000249749:R168H	R	+	2	0	DLL4	39011101	0.881000	0.30235	1.000000	0.80357	0.989000	0.77384	2.500000	0.45381	2.768000	0.95171	0.561000	0.74099	CGC		0.552	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			A	41223809	G	A	41223809	3	1	134	1	0	0	0	0	1	0	0	0	4570	1087	38	1	517	1	DLL4	15	41223809	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10		41223809	61307583	78	8051											
PIF1	80119	hgsc.bcm.edu	37	15	65114484	65114484	+	Silent	SNP	G	G	A	rs8031690	byFrequency	TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr15:65114484G>A	ENST00000268043.4	-	4	892	c.798C>T	c.(796-798)acC>acT	p.T266T	PIF1_ENST00000333425.6_Silent_p.T266T|PIF1_ENST00000559239.1_Silent_p.T266T					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CATGGAGGGTGGTGCCCCCGA	0.602													G|||	661	0.131989	0.3563	0.0231	5008	,	,		15702	0.0		0.004	False		,,,				2504	0.1738															0								G		1287,3117	421.1+/-339.2	201,885,1116	55	60	58		798	3.1	1	15	dbSNP_116	58	35,8563	22.8+/-68.1	0,35,4264	yes	coding-synonymous	PIF1	NM_025049.2		201,920,5380	AA,AG,GG		0.4071,29.2234,10.1677		266/642	65114484	1322,11680	2202	4299	6501	SO:0001819	synonymous_variant	80119			AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.798C>T	15.37:g.65114484G>A				Silent	SNP	ENST00000268043.4	37	CCDS10195.2																																																																																				0.602	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		A	65114484	G	A	65114484	2	1	134	1	0	0	0	0	0	0	0	1	11885	1335	47	2		2	PIF1	15	65114484	Silent	SNP	G	TCGA-B0-4712-01A-01D-1501-10	23890675	65114484	37416908	79	8052											
TSC2	7249	hgsc.bcm.edu;ucsc.edu	37	16	2112006	2112006	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr16:2112006G>T	ENST00000219476.3	+	12	1884	c.1254G>T	c.(1252-1254)agG>agT	p.R418S	TSC2_ENST00000382538.6_Missense_Mutation_p.R369S|TSC2_ENST00000439673.2_Missense_Mutation_p.R381S|TSC2_ENST00000401874.2_Missense_Mutation_p.R418S|TSC2_ENST00000353929.4_Missense_Mutation_p.R418S|TSC2_ENST00000350773.4_Missense_Mutation_p.R418S|TSC2_ENST00000568454.1_Missense_Mutation_p.R429S	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	418					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGACCAGAGGCCTGTGAGAC	0.607			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													67	63	64					16																	2112006		2198	4300	6498	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1254G>T	16.37:g.2112006G>T	ENSP00000219476:p.Arg418Ser		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.527320	0.44969	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.95	-1.96	0.07525	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74824	0.3767	M	0.83384	2.64	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.995;0.999;0.995	D;D;D;D;D;D	0.91635	0.999;0.999;0.997;0.996;0.998;0.989	T	0.73363	-0.4006	10	0.41790	T	0.15	-25.2882	10.3747	0.44075	0.7045:0.0:0.2955:0.0	.	369;381;418;418;418;418	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	S	418;418;418;381;369;418	ENSP00000219476:R418S;ENSP00000384468:R418S;ENSP00000248099:R418S;ENSP00000399232:R381S;ENSP00000371978:R369S;ENSP00000344383:R418S	ENSP00000219476:R418S	R	+	3	2	TSC2	2052007	1.000000	0.71417	0.995000	0.50966	0.196000	0.23810	1.017000	0.29989	-0.154000	0.11118	-0.258000	0.10820	AGG		0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		T	2112006	G	T	2112006	3	4	134	1	0	0	0	0	1	0	0	0	16611	1194	42	4	1296	4	TSC2	16	2112006	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10		2112006	88242747	80	8053											
HIRIP3	8479	broad.mit.edu;hgsc.bcm.edu	37	16	30006027	30006027	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr16:30006027G>A	ENST00000279392.3	-	4	1269	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	147	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)		p.R147W(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCCCTCTGCCGTTCCTCATCA	0.567																																																1	Substitution - Missense(1)	kidney(1)											166	175	172					16																	30006027		2197	4300	6497	SO:0001583	missense	8479			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.439C>T	16.37:g.30006027G>A	ENSP00000279392:p.Arg147Trp		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	8.276	0.814414	0.16607	.	.	ENSG00000149929	ENST00000279392	T	0.38077	1.16	4.25	-1.65	0.08291	.	1.510760	0.04083	N	0.310030	T	0.17280	0.0415	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	10	0.72032	D	0.01	-1.1669	0.9598	0.01393	0.2776:0.2861:0.2903:0.146	.	147	Q9BW71	HIRP3_HUMAN	W	147	ENSP00000279392:R147W	ENSP00000279392:R147W	R	-	1	2	HIRIP3	29913528	0.005000	0.15991	0.001000	0.08648	0.017000	0.09413	0.169000	0.16641	-0.048000	0.13401	-0.229000	0.12294	CGG		0.567	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		A	30006027	G	A	30006027	3	1	134	1	0	0	0	0	1	0	0	0	7123	1144	40	1	1247	1	HIRIP3	16	30006027	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	27894021	30006027	60348726	81	8054											
NLRC5	84166	hgsc.bcm.edu;ucsc.edu	37	16	57065327	57065327	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr16:57065327T>G	ENST00000262510.6	+	11	2654	c.2429T>G	c.(2428-2430)cTc>cGc	p.L810R	NLRC5_ENST00000436936.1_Missense_Mutation_p.L810R|NLRC5_ENST00000539144.1_Missense_Mutation_p.L810R|NLRC5_ENST00000308149.7_Missense_Mutation_p.L810R	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	810				ADL -> RTI (in Ref. 1; AAO59377 and 2; ABO40479). {ECO:0000305}.	defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAGGCGGACCTCATCTTCCTT	0.557																																																0													138	114	122					16																	57065327		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2429T>G	16.37:g.57065327T>G	ENSP00000262510:p.Leu810Arg		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249274	0.59103	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.74947	-0.7;-0.72;-0.89;-0.72;2.28;0.24	4.18	4.18	0.49190	.	.	.	.	.	T	0.76535	0.4001	L	0.29908	0.895	0.33480	D	0.587286	D;D;D;D	0.71674	0.998;0.998;0.998;0.995	D;D;D;D	0.70487	0.935;0.969;0.966;0.931	T	0.80703	-0.1264	9	0.56958	D	0.05	.	9.9174	0.41444	0.0:0.0:0.0:1.0	.	810;810;810;810	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	R	810;810;810;284;810;317;109	ENSP00000262510:L810R;ENSP00000308886:L810R;ENSP00000389739:L810R;ENSP00000441727:L810R;ENSP00000441597:L317R;ENSP00000440153:L109R	ENSP00000262510:L810R	L	+	2	0	NLRC5	55622828	0.173000	0.23056	0.997000	0.53966	0.787000	0.44495	3.042000	0.49815	2.127000	0.65507	0.459000	0.35465	CTC		0.557	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		G	57065327	T	G	57065327	3	3	134	1	0	0	0	0	1	0	0	0	10472	1551	54	5	2463	5	NLRC5	16	57065327	Missense_Mutation	SNP	T	TCGA-B0-4712-01A-01D-1501-10	27059300	57065327	33289426	82	8055											
CES8	283848	hgsc.bcm.edu	37	16	67029715	67029715	+	Silent	SNP	T	T	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr16:67029715T>C	ENST00000326686.5	+	2	243	c.243T>C	c.(241-243)gcT>gcC	p.A81A	CES4A_ENST00000338718.4_Silent_p.A104A|CES4A_ENST00000398354.1_Silent_p.A81A|CES4A_ENST00000540947.2_Silent_p.A81A|CES4A_ENST00000541479.1_Silent_p.A104A			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	81						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TCAGAGATGCTACCACCTACC	0.577																																																0													60	63	62					16																	67029715		1906	4117	6023	SO:0001819	synonymous_variant	283848			AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.243T>C	16.37:g.67029715T>C			A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Silent	SNP	ENST00000326686.5	37																																																																																					0.577	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		C	67029715	T	C	67029715	2	2	134	1	0	0	0	0	0	0	0	1	3275	1509	53	3		3	CES8	16	67029715	Silent	SNP	T	TCGA-B0-4712-01A-01D-1501-10	9964388	67029715	23325038	83	8056											
CHD3	1107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7797756	7797756	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr17:7797756G>A	ENST00000330494.7	+	8	1249	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	CHD3_ENST00000380358.4_Missense_Mutation_p.G426R|CHD3_ENST00000358181.4_Missense_Mutation_p.G367R	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	367					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G367R(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGCAGTGGCCGGGGAGGAGGA	0.587																																																1	Substitution - Missense(1)	kidney(1)											97	78	85					17																	7797756		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1099G>A	17.37:g.7797756G>A	ENSP00000332628:p.Gly367Arg		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.27|16.27	3.077209|3.077209	0.55753|0.55753	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000452447	D;D;D|.	0.94650|.	-3.48;-3.48;-3.48|.	4.47|4.47	4.47|4.47	0.54385|0.54385	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.47093|.	D|.	0.000252|.	T|T	0.68081|0.68081	0.2962|0.2962	L|L	0.52573|0.52573	1.65|1.65	0.52501|0.52501	D|D	0.999953|0.999953	D;D;D|.	0.76494|.	0.998;0.999;0.999|.	P;P;P|.	0.59357|.	0.856;0.721;0.852|.	T|T	0.66504|0.66504	-0.5907|-0.5907	10|5	0.15066|.	T|.	0.55|.	-28.6676|-28.6676	16.0777|16.0777	0.80979|0.80979	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	367;367;426|.	Q12873-2;Q12873;E9PG89|.	.;CHD3_HUMAN;.|.	R|Q	426;367;367|237	ENSP00000369716:G426R;ENSP00000350907:G367R;ENSP00000332628:G367R|.	ENSP00000332628:G367R|.	G|R	+|+	1|2	0|0	CHD3|CHD3	7738481|7738481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.136000|5.136000	0.64783|0.64783	2.315000|2.315000	0.78130|0.78130	0.557000|0.557000	0.71058|0.71058	GGG|CGG		0.587	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		A	7797756	G	A	7797756	3	1	134	1	0	0	0	0	1	0	0	0	3328	1116	39	1	1410	1	CHD3	17	7797756	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10		7797756	73397454	84	8057											
C17orf104	284071	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42745374	42745374	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr17:42745374T>G	ENST00000409122.2	+	5	2237	c.2095T>G	c.(2095-2097)Tca>Gca	p.S699A	C17orf104_ENST00000409464.1_Missense_Mutation_p.S533A|C17orf104_ENST00000359945.3_Missense_Mutation_p.S699A	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	699								p.S699A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						ATTTGGCCATTCAGTTGTTCC	0.348																																																1	Substitution - Missense(1)	kidney(1)											83	74	77					17																	42745374		2203	4300	6503	SO:0001583	missense	284071				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.2095T>G	17.37:g.42745374T>G	ENSP00000386452:p.Ser699Ala		B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	T	5.124	0.208564	0.09757	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.34275	1.37;1.39;1.38	5.76	2.08	0.27032	.	0.511495	0.17831	N	0.160553	T	0.17746	0.0426	L	0.27053	0.805	0.23249	N	0.998043	B;B;B	0.23377	0.047;0.084;0.047	B;B;B	0.18561	0.015;0.022;0.015	T	0.25882	-1.0119	10	0.07325	T	0.83	-26.1272	4.2473	0.10677	0.1146:0.0645:0.2384:0.5825	.	699;699;533	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	A	699;699;533	ENSP00000353028:S699A;ENSP00000386452:S699A;ENSP00000386586:S533A	ENSP00000353028:S699A	S	+	1	0	C17orf104	40100900	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.482000	0.35486	0.421000	0.25980	-0.346000	0.07831	TCA		0.348	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		G	42745374	T	G	42745374	3	3	134	1	0	0	0	0	1	0	0	0	1853	1783	62	5	2113	5	C17orf104	17	42745374	Missense_Mutation	SNP	T	TCGA-B0-4712-01A-01D-1501-10	34947618	42745374	38449836	85	8058											
EMILIN2	84034	broad.mit.edu;hgsc.bcm.edu	37	18	2891708	2891708	+	Nonsense_Mutation	SNP	C	C	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr18:2891708C>G	ENST00000254528.3	+	4	1742	c.1583C>G	c.(1582-1584)tCa>tGa	p.S528*		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	528					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.S528*(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGGAGTGTCAGGGTCAGGA	0.532																																																1	Substitution - Nonsense(1)	kidney(1)											67	70	69					18																	2891708		2203	4300	6503	SO:0001587	stop_gained	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1583C>G	18.37:g.2891708C>G	ENSP00000254528:p.Ser528*		B2RMY3|Q8NBH3|Q96JQ4	Nonsense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	36	5.930559	0.97116	.	.	ENSG00000132205	ENST00000254528	.	.	.	4.51	2.69	0.31865	.	0.716429	0.12527	N	0.461129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-1.2327	9.4094	0.38482	0.1442:0.7791:0.0:0.0767	.	.	.	.	X	528	.	ENSP00000254528:S528X	S	+	2	0	EMILIN2	2881708	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.087000	0.11215	0.585000	0.29608	0.563000	0.77884	TCA		0.532	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		G	2891708	C	G	2891708	4	3	134	1	0	0	0	0	0	1	0	0	5096	838	29	4	1597	4	EMILIN2	18	2891708	Nonsense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10		2891708	75185540	86	8059											
DNMT1	1786	broad.mit.edu	37	19	10257171	10257171	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr19:10257171T>G	ENST00000340748.4	-	27	2937	c.2702A>C	c.(2701-2703)gAg>gCg	p.E901A	DNMT1_ENST00000540357.1_Missense_Mutation_p.E901A|DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000359526.4_Missense_Mutation_p.E917A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	901					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E901A(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTGCCTCATCTCAGCCAGACG	0.577																																																1	Substitution - Missense(1)	kidney(1)											59	59	59					19																	10257171		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2702A>C	19.37:g.10257171T>G	ENSP00000345739:p.Glu901Ala		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.479789	0.63849	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.24723	1.84;1.84;1.84	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	L	0.56769	1.78	0.80722	D	1	B;B;B	0.23891	0.069;0.069;0.093	B;B;B	0.29862	0.108;0.108;0.05	T	0.04495	-1.0947	10	0.29301	T	0.29	.	14.9998	0.71462	0.0:0.0:0.0:1.0	.	901;917;901	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	A	917;901;901;769	ENSP00000352516:E917A;ENSP00000440457:E901A;ENSP00000345739:E901A	ENSP00000345739:E901A	E	-	2	0	DNMT1	10118171	1.000000	0.71417	0.933000	0.37362	0.990000	0.78478	6.034000	0.70933	2.181000	0.69327	0.533000	0.62120	GAG		0.577	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		G	10257171	T	G	10257171	3	3	134	1	0	0	0	0	1	0	0	0	4677	1551	54	5	2204	5	DNMT1	19	10257171	Missense_Mutation	SNP	T	TCGA-B0-4712-01A-01D-1501-10		10257171	48871812	87	8060											
EMR3	84658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14758037	14758037	+	Missense_Mutation	SNP	C	C	T	rs200966967		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr19:14758037C>T	ENST00000253673.5	-	8	938	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	EMR3_ENST00000443157.2_Missense_Mutation_p.V154M|EMR3_ENST00000599900.1_Missense_Mutation_p.V65M|EMR3_ENST00000344373.4_Missense_Mutation_p.V228M	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	280					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V280M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GAGAGAGACACGTTCCTTTTG	0.448																																																1	Substitution - Missense(1)	kidney(1)											252	206	221					19																	14758037		2203	4300	6503	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.838G>A	19.37:g.14758037C>T	ENSP00000253673:p.Val280Met			Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	C	6.869	0.529670	0.13127	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.58358	0.95;0.34;1.03	3.94	-1.8	0.07907	.	.	.	.	.	T	0.36853	0.0982	L	0.32530	0.975	0.09310	N	1	B;B;B	0.25850	0.037;0.136;0.037	B;B;B	0.22753	0.041;0.024;0.018	T	0.23119	-1.0197	9	0.45353	T	0.12	.	8.1844	0.31330	0.0:0.4614:0.0:0.5386	.	154;228;280	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	M	154;280;228	ENSP00000396208:V154M;ENSP00000253673:V280M;ENSP00000340758:V228M	ENSP00000253673:V280M	V	-	1	0	EMR3	14619037	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.214000	0.09292	-0.363000	0.08101	-0.824000	0.03097	GTG		0.448	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		T	14758037	C	T	14758037	3	4	134	1	0	0	0	0	1	0	0	0	5108	536	19	1	1156	1	EMR3	19	14758037	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	4500866	14758037	44370946	88	8061											
OR7A10	390892	hgsc.bcm.edu	37	19	14952560	14952560	+	Missense_Mutation	SNP	G	G	T	rs12985894	byFrequency	TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr19:14952560G>T	ENST00000248058.1	-	1	129	c.130C>A	c.(130-132)Ctc>Atc	p.L44I		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AGGATGATGAGCAGGTTCCCG	0.512													.|||	618	0.123403	0.143	0.1196	5008	,	,		18213	0.0903		0.1541	False		,,,				2504	0.1022															0								G	ILE/LEU	675,3731	285.7+/-278.4	58,559,1586	70	66	67		130	2.8	1	19	dbSNP_121	67	1455,7139	277.4+/-292.8	140,1175,2982	no	missense	OR7A10	NM_001005190.1	5	198,1734,4568	TT,TG,GG		16.9304,15.32,16.3846	possibly-damaging	44/310	14952560	2130,10870	2203	4297	6500	SO:0001583	missense	390892				CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.130C>A	19.37:g.14952560G>T	ENSP00000248058:p.Leu44Ile		Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	CCDS32936.1	260	0.11904761904761904	69	0.1402439024390244	48	0.13259668508287292	27	0.0472027972027972	116	0.15303430079155672	g	9.293	1.051138	0.19827	0.1532	0.169304	ENSG00000127515	ENST00000248058	T	0.02606	4.23	2.79	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34133	U	0.004236	T	0.00039	0.0001	L	0.60904	1.88	0.48452	P	3.4199999999995345E-4	P	0.46327	0.876	P	0.54238	0.746	T	0.25293	-1.0136	9	0.72032	D	0.01	.	7.1625	0.25672	0.0:0.0:0.7333:0.2667	rs12985894	44	O76100	OR7AA_HUMAN	I	44	ENSP00000248058:L44I	ENSP00000248058:L44I	L	-	1	0	OR7A10	14813560	0.000000	0.05858	1.000000	0.80357	0.286000	0.27126	-0.617000	0.05584	1.572000	0.49736	0.430000	0.28490	CTC		0.512	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		T	14952560	G	T	14952560	3	4	134	1	0	0	0	0	1	0	0	0	11216	971	34	4	803	4	OR7A10	19	14952560	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	194523	14952560	44176423	89	8062											
OR1I1	126370	hgsc.bcm.edu;ucsc.edu	37	19	15198241	15198241	+	Missense_Mutation	SNP	G	G	A	rs75278395	byFrequency	TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr19:15198241G>A	ENST00000209540.2	+	1	451	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GCCATCGACCGCTTCGTGGCC	0.577													G|||	117	0.0233626	0.0825	0.0115	5008	,	,		21078	0.0		0.0	False		,,,				2504	0.0															0								G	HIS/ARG	269,4137	152.2+/-185.9	8,253,1942	87	72	77		365	-1	0	19	dbSNP_131	77	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR1I1	NM_001004713.1	29	8,255,6240	AA,AG,GG		0.0233,6.1053,2.0837	probably-damaging	122/356	15198241	271,12735	2203	4300	6503	SO:0001583	missense	126370			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"GPCR / Class A : Olfactory receptors"	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.365G>A	19.37:g.15198241G>A	ENSP00000209540:p.Arg122His		Q96R92	Missense_Mutation	SNP	ENST00000209540.2	37	CCDS32937.1	51	0.023351648351648352	49	0.09959349593495935	2	0.0055248618784530384	0	0.0	0	0.0	g	12.43	1.935489	0.34189	0.061053	2.33E-4	ENSG00000094661	ENST00000209540	T	0.77489	-1.1	4.9	-1.05	0.10036	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30093	U	0.010421	T	0.17450	0.0419	M	0.88704	2.975	0.25671	N	0.985897	D	0.89917	1.0	D	0.97110	1.0	T	0.56553	-0.7960	10	0.72032	D	0.01	.	5.1436	0.14973	0.3089:0.0:0.5577:0.1334	.	122	O60431	OR1I1_HUMAN	H	122	ENSP00000209540:R122H	ENSP00000209540:R122H	R	+	2	0	OR1I1	15059241	0.914000	0.31030	0.007000	0.13788	0.001000	0.01503	3.160000	0.50739	-0.192000	0.10432	-1.069000	0.02264	CGC		0.577	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			A	15198241	G	A	15198241	3	1	134	1	0	0	0	0	1	0	0	0	10960	1087	38	1	367	1	OR1I1	19	15198241	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	245681	15198241	43930742	90	8063											
ZNF208	7757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	22170044	22170044	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr19:22170044C>G	ENST00000397126.4	-	3	348	c.200G>C	c.(199-201)aGa>aCa	p.R67T	ZNF208_ENST00000597040.1_Missense_Mutation_p.R35T|ZNF208_ENST00000601773.1_Missense_Mutation_p.R67T|ZNF208_ENST00000599916.1_Missense_Mutation_p.R67T	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R67T(3)		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)				CATCTCATGTCTCTTCATATT	0.418																																																3	Substitution - Missense(3)	kidney(3)											72	75	74					19																	22170044		2198	4299	6497	SO:0001583	missense	7757			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.200G>C	19.37:g.22170044C>G	ENSP00000380315:p.Arg67Thr			Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	4.344	0.063354	0.08388	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07444	3.19	0.207	0.207	0.15214	Krueppel-associated box (1);	.	.	.	.	T	0.11110	0.0271	.	.	.	0.09310	N	1	D;P	0.58268	0.982;0.868	P;P	0.52554	0.702;0.572	T	0.29941	-0.9995	7	0.28530	T	0.3	.	.	.	.	.	67;67	O43345;F8WEA0	ZN208_HUMAN;.	T	67	ENSP00000380315:R67T	ENSP00000380315:R67T	R	-	2	0	ZNF208	21961884	0.175000	0.23083	0.047000	0.18901	0.047000	0.14425	0.646000	0.24797	0.284000	0.22305	0.289000	0.19496	AGA		0.418	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		G	22170044	C	G	22170044	3	3	134	1	0	0	0	0	1	0	0	0	17771	913	32	4	3650	4	ZNF208	19	22170044	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	6971803	22170044	36958939	91	8064											
PSMC4	5704	hgsc.bcm.edu	37	19	40480501	40480501	+	Silent	SNP	C	C	T	rs11542840	byFrequency	TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr19:40480501C>T	ENST00000157812.2	+	5	738	c.540C>T	c.(538-540)gcC>gcT	p.A180A	PSMC4_ENST00000455878.2_Silent_p.A149A	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	180					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|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)|proteolysis (GO:0006508)|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)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGCGGGAGGCCGTGGAGCTCC	0.637													C|||	489	0.0976438	0.1316	0.0389	5008	,	,		18530	0.1587		0.0239	False		,,,				2504	0.1063				Colon(105;1478 1543 4034 6132 38638)											0								C	,	556,3850	247.2+/-255.5	43,470,1690	61	65	64		540,447	-10.6	0.1	19	dbSNP_120	64	247,8353	97.7+/-159.3	5,237,4058	no	coding-synonymous,coding-synonymous	PSMC4	NM_006503.2,NM_153001.1	,	48,707,5748	TT,TC,CC		2.8721,12.6192,6.1741	,	180/419,149/388	40480501	803,12203	2203	4300	6503	SO:0001819	synonymous_variant	5704			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.540C>T	19.37:g.40480501C>T			Q96FV5|Q9UBM3|Q9UEX3	Silent	SNP	ENST00000157812.2	37	CCDS12547.1																																																																																				0.637	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		T	40480501	C	T	40480501	2	4	134	1	0	0	0	0	0	0	0	1	12694	639	23	1		1	PSMC4	19	40480501	Silent	SNP	C	TCGA-B0-4712-01A-01D-1501-10	18310457	40480501	18648482	92	8065											
GRWD1	83743	broad.mit.edu;hgsc.bcm.edu	37	19	48954349	48954349	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr19:48954349C>T	ENST00000253237.5	+	6	1117	c.884C>T	c.(883-885)cCc>cTc	p.P295L		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	295						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P295L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CGGGCAGCCCCCAGCAAGGCC	0.667																																																1	Substitution - Missense(1)	kidney(1)											55	57	57					19																	48954349		2203	4300	6503	SO:0001583	missense	83743			AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.884C>T	19.37:g.48954349C>T	ENSP00000253237:p.Pro295Leu		Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429888	0.83776	.	.	ENSG00000105447	ENST00000253237	T	0.69685	-0.42	3.84	3.84	0.44239	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.059646	0.64402	D	0.000002	T	0.60104	0.2243	N	0.25332	0.735	0.80722	D	1	P	0.46142	0.873	P	0.46975	0.533	T	0.64580	-0.6374	10	0.48119	T	0.1	-20.582	15.0469	0.71835	0.0:1.0:0.0:0.0	.	295	Q9BQ67	GRWD1_HUMAN	L	295	ENSP00000253237:P295L	ENSP00000253237:P295L	P	+	2	0	GRWD1	53646161	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.630000	0.74272	2.168000	0.68352	0.561000	0.74099	CCC		0.667	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		T	48954349	C	T	48954349	3	4	134	1	0	0	0	0	1	0	0	0	6813	623	22	2	906	2	GRWD1	19	48954349	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	8473848	48954349	10174634	93	8066											
AP2A1	160	broad.mit.edu;hgsc.bcm.edu	37	19	50309986	50309986	+	Missense_Mutation	SNP	C	C	A	rs547032875		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr19:50309986C>A	ENST00000359032.5	+	24	2905	c.2905C>A	c.(2905-2907)Ctg>Atg	p.L969M	AP2A1_ENST00000354293.5_Missense_Mutation_p.L947M|AC006942.4_ENST00000600669.1_RNA	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	969				ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.L969M(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CTCCCGTCACCTGTGTGAGCT	0.652																																																2	Substitution - Missense(2)	kidney(2)											46	51	50					19																	50309986		1986	4173	6159	SO:0001583	missense	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2905C>A	19.37:g.50309986C>A	ENSP00000351926:p.Leu969Met		Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808974	0.70797	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.27720	1.72;1.65	4.97	1.68	0.24146	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin alpha-adaptin/coatomer adaptor, appendage, C-terminal subdomain (1);Clathrin adaptor, alpha-adaptin, appendage, C-terminal subdomain (1);	0.099134	0.48767	D	0.000167	T	0.49830	0.1580	M	0.74467	2.265	0.41696	D	0.989373	D;P	0.89917	1.0;0.89	D;P	0.91635	0.999;0.648	T	0.42832	-0.9428	10	0.52906	T	0.07	.	8.5334	0.33349	0.0:0.736:0.0:0.264	.	947;969	O95782-2;O95782	.;AP2A1_HUMAN	M	947;969	ENSP00000346246:L947M;ENSP00000351926:L969M	ENSP00000346246:L947M	L	+	1	2	AP2A1	55001798	0.996000	0.38824	0.961000	0.40146	0.989000	0.77384	2.322000	0.43814	0.136000	0.18733	0.561000	0.74099	CTG		0.652	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			A	50309986	C	A	50309986	3	1	134	1	0	0	0	0	1	0	0	0	739	680	24	4	2999	4	AP2A1	19	50309986	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10	1355637	50309986	8818997	94	8067											
LILRB4	11006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55177763	55177763	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr19:55177763G>A	ENST00000391736.1	+	10	1262	c.947G>A	c.(946-948)aGg>aAg	p.R316K	LILRB4_ENST00000391733.3_Missense_Mutation_p.R316K|LILRB4_ENST00000391734.3_Missense_Mutation_p.R316K|LILRB4_ENST00000270452.2_Missense_Mutation_p.R316K|LILRB4_ENST00000430952.2_Missense_Mutation_p.R316K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	316					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.R316K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGCCTACAGAGGAGGTAATTC	0.617																																																1	Substitution - Missense(1)	kidney(1)											118	104	108					19																	55177763		2203	4300	6503	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.947G>A	19.37:g.55177763G>A	ENSP00000375616:p.Arg316Lys		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.605715	0.00842	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00460	7.37;7.37;7.37;7.3;7.39;7.27	1.86	-3.73	0.04398	.	.	.	.	.	T	0.00241	0.0007	L	0.35644	1.08	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0	T	0.45906	-0.9229	9	0.05351	T	0.99	.	2.7192	0.05196	0.4277:0.0:0.2576:0.3147	.	316;315;316;316;316	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	K	316;316;316;316;316;315	ENSP00000375616:R316K;ENSP00000270452:R316K;ENSP00000408995:R316K;ENSP00000375614:R316K;ENSP00000375613:R316K;ENSP00000401962:R315K	ENSP00000270452:R316K	R	+	2	0	LILRB4	59869575	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.071000	0.01378	-1.624000	0.01556	-0.481000	0.04817	AGG		0.617	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			A	55177763	G	A	55177763	3	1	134	1	0	0	0	0	1	0	0	0	8795	1000	35	2	977	2	LILRB4	19	55177763	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10	4867777	55177763	3951220	95	8068											
ZNF544	27300	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58772269	58772269	+	Silent	SNP	T	T	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr19:58772269T>C	ENST00000596652.1	+	6	531	c.297T>C	c.(295-297)gcT>gcC	p.A99A	CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000594384.1_3'UTR|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Silent_p.A71A|ZNF544_ENST00000600044.1_Silent_p.A71A|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000269829.4_Silent_p.A99A|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Silent_p.A71A|ZNF544_ENST00000599953.1_5'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A99A(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAGATCGAGCTAGGGAAGAAC	0.463																																																1	Substitution - coding silent(1)	kidney(1)											62	60	61					19																	58772269		2203	4300	6503	SO:0001819	synonymous_variant	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.297T>C	19.37:g.58772269T>C			A8K6J1|Q9UEX4	Silent	SNP	ENST00000596652.1	37	CCDS12973.1																																																																																				0.463	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		C	58772269	T	C	58772269	2	2	134	1	0	0	0	0	0	0	0	1	17982	1509	53	3		3	ZNF544	19	58772269	Silent	SNP	T	TCGA-B0-4712-01A-01D-1501-10	3594506	58772269	356714	96	8069											
C20orf194	25943	broad.mit.edu;hgsc.bcm.edu	37	20	3355713	3355713	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr20:3355713C>T	ENST00000252032.9	-	5	536	c.469G>A	c.(469-471)Gac>Aac	p.D157N		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	157								p.D157N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTACTACAGTCTCGAACCATG	0.408																																																1	Substitution - Missense(1)	kidney(1)											270	257	261					20																	3355713		1863	4096	5959	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.469G>A	20.37:g.3355713C>T	ENSP00000252032:p.Asp157Asn		Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254756	0.95336	.	.	ENSG00000088854	ENST00000252032	T	0.23348	1.91	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.38628	-0.9652	10	0.35671	T	0.21	.	18.6895	0.91578	0.0:1.0:0.0:0.0	.	157	Q5TEA3	CT194_HUMAN	N	157	ENSP00000252032:D157N	ENSP00000252032:D157N	D	-	1	0	C20orf194	3303713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.304000	0.78882	2.706000	0.92434	0.650000	0.86243	GAC		0.408	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		T	3355713	C	T	3355713	3	4	134	1	0	0	0	0	1	0	0	0	2101	913	32	2	3196	2	C20orf194	20	3355713	Missense_Mutation	SNP	C	TCGA-B0-4712-01A-01D-1501-10		3355713	59669807	97	8070											
ARFGEF2	10564	hgsc.bcm.edu;ucsc.edu	37	20	47601976	47601982	+	Frame_Shift_Del	DEL	CAAGGTT	CAAGGTT	-			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	CAAGGTT	CAAGGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr20:47601976_47601982delCAAGGTT	ENST00000371917.4	+	16	2102_2108	c.2102_2108delCAAGGTT	c.(2101-2109)gcaaggttcfs	p.ARF701fs		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	701	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGAGATAGCGCAAGGTTCAACAAGGAG	0.464																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0																																										SO:0001589	frameshift_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2102_2108delCAAGGTT	20.37:g.47601976_47601982delCAAGGTT	ENSP00000360985:p.Ala701fs		Q5TFT9|Q9NTS1	Frame_Shift_Del	DEL	ENST00000371917.4	37	CCDS13411.1																																																																																				0.464	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		-	47601982	CAAGGTT	-	47601976	7	5	134	1	0	1	0	1	0	0	0	0	853	710	25	0	2164	0	ARFGEF2	20	47601976	Frame_Shift_Del	DEL	CAAGGTT	TCGA-B0-4712-01A-01D-1501-10	44246263	47601976	15423544	98	8071											
PI4KA	5297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21192985	21192985	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chr22:21192985A>C	ENST00000572273.1	-	2	247	c.17T>G	c.(16-18)tTc>tGc	p.F6C	PI4KA_ENST00000255882.6_Missense_Mutation_p.F64C			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	6					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.F6C(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GATCCCATGGAAATCCACTGG	0.393																																					GBM(136;1332 1831 3115 23601 50806)											2	Substitution - Missense(2)	kidney(2)											103	103	103					22																	21192985		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.17T>G	22.37:g.21192985A>C	ENSP00000458238:p.Phe6Cys		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	A	13.17	2.155909	0.38021	.	.	ENSG00000241973	ENST00000255882;ENST00000449120	T	0.50277	0.75	5.4	5.4	0.78164	.	0.366843	0.31809	N	0.007037	T	0.45498	0.1345	L	0.29908	0.895	0.80722	D	1	B;P	0.36027	0.419;0.533	P;B	0.47102	0.537;0.235	T	0.41963	-0.9479	10	0.39692	T	0.17	-33.0893	10.4815	0.44695	0.8551:0.0:0.0:0.1449	.	64;6	D3DX33;P42356	.;PI4KA_HUMAN	C	6	ENSP00000402437:F6C	ENSP00000255882:F6C	F	-	2	0	PI4KA	19522985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.457000	0.53007	2.270000	0.75569	0.459000	0.35465	TTC		0.393	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		C	21192985	A	C	21192985	3	2	134	1	0	0	0	0	1	0	0	0	11875	246	9	5	6333	5	PI4KA	22	21192985	Missense_Mutation	SNP	A	TCGA-B0-4712-01A-01D-1501-10		21192985	30111581	99	8072											
CDX4	1046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	72673463	72673463	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chrX:72673463G>A	ENST00000373514.2	+	2	613	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	205					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E205K(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GAGAAAATCAGAGCTGGCAGT	0.393																																																1	Substitution - Missense(1)	kidney(1)											73	62	66					X																	72673463		2203	4300	6503	SO:0001583	missense	1046			AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.613G>A	X.37:g.72673463G>A	ENSP00000362613:p.Glu205Lys		A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.203993	0.79127	.	.	ENSG00000131264	ENST00000373514	D	0.96522	-4.04	3.63	2.76	0.32466	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);	0.200249	0.42053	N	0.000778	D	0.93953	0.8064	L	0.58925	1.835	0.80722	D	1	B	0.27559	0.181	B	0.30716	0.119	D	0.90563	0.4517	10	0.87932	D	0	-7.3264	8.3561	0.32331	0.1264:0.0:0.8736:0.0	.	205	O14627	CDX4_HUMAN	K	205	ENSP00000362613:E205K	ENSP00000362613:E205K	E	+	1	0	CDX4	72590188	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.784000	0.75084	0.498000	0.27948	0.436000	0.28706	GAG		0.393	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		A	72673463	G	A	72673463	3	1	134	1	0	0	0	0	1	0	0	0	3186	943	33	2	619	2	CDX4	23	72673463	Missense_Mutation	SNP	G	TCGA-B0-4712-01A-01D-1501-10		72673463	82597097	100	8073											
RBMX	27316	hgsc.bcm.edu	37	X	135957716	135957716	+	Silent	SNP	A	A	G	rs142284545		TCGA-B0-4712-01A-01D-1501-10	TCGA-B0-4712-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	032b33f8-ff79-47de-8cb2-d744eab8bd1a	b7ef4bb0-2d50-47f1-80df-3aae8da90df4	g.chrX:135957716A>G	ENST00000320676.7	-	6	724	c.570T>C	c.(568-570)taT>taC	p.Y190Y	RBMX_ENST00000565438.1_Silent_p.Y62Y|RBMX_ENST00000431446.3_Missense_Mutation_p.M82T|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_Silent_p.Y190Y|RBMX_ENST00000570135.1_Silent_p.Y55Y	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	190	Necessary for the association to nascent RNAPII transcripts and nuclear localization.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GTGGACCTCCATAACTATCTC	0.393																																																0													67	65	66					X																	135957716		2203	4300	6503	SO:0001819	synonymous_variant	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.570T>C	X.37:g.135957716A>G			B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	0.268	-0.994819	0.02145	.	.	ENSG00000147274	ENST00000431446	T	0.05649	3.41	5.6	-2.88	0.05682	.	.	.	.	.	T	0.04272	0.0118	.	.	.	0.80722	D	1	B	0.27997	0.197	B	0.04013	0.001	T	0.38693	-0.9649	7	.	.	.	.	14.6598	0.68861	0.5297:0.0:0.4703:0.0	.	82	B4E3U4	.	T	82	ENSP00000411989:M82T	.	M	-	2	0	RBMX	135785382	0.138000	0.22547	0.881000	0.34555	0.821000	0.46438	-0.253000	0.08794	-1.365000	0.02158	-2.240000	0.00288	ATG		0.393	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		G	135957716	A	G	135957716	2	3	134	1	0	0	0	0	0	0	0	1	13157	227	8	3		3	RBMX	23	135957716	Silent	SNP	A	TCGA-B0-4712-01A-01D-1501-10	63284253	135957716	19312844	101	8074											
VHL	7428	hgsc.bcm.edu	37	3	10183734	10183734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4713-01A-01D-1361-10	TCGA-B0-4713-11A-01W-1359-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	130b417a-452b-41fc-b2d9-50b221ecc0d2	84f4e51b-ab14-48f2-a230-bb5c15195caa	g.chr3:10183734C>A	ENST00000256474.2	+	1	1043	c.203C>A	c.(202-204)tCg>tAg	p.S68*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCGGTGAACTCGCGCGAGCCC	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Nonsense(15)|Deletion - Frameshift(3)|Complex - frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(24)	GRCh37	CM003058|CM971566	VHL	M							8	11	10					3																	10183734		2146	4213	6359	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.203C>A	3.37:g.10183734C>A	ENSP00000256474:p.Ser68*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088584	0.94100	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.45	4.53	0.55603	.	0.369470	0.28203	N	0.016215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8236	13.5532	0.61745	0.0:0.7597:0.2403:0.0	.	.	.	.	X	68	.	ENSP00000256474:S68X	S	+	2	0	VHL	10158734	0.146000	0.22672	0.981000	0.43875	0.672000	0.39443	0.351000	0.20096	2.567000	0.86603	0.550000	0.68814	TCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183734	C	A	10183734	4	1	135	1	0	0	0	0	0	1	0	0	17167	893	31	4	205	4	VHL	3	10183734	Nonsense_Mutation	SNP	C	TCGA-B0-4713-01A-01D-1361-10		10183734	187838696	1	8075											
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	A	rs5030807		TCGA-B0-4714-01A-01W-1359-10	TCGA-B0-4714-11A-01D-2279-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	c67e9881-26a3-412e-aeb4-059d410183a1	0f9e3ab6-6f54-4b0a-9f8a-c1f0b29f1c7d	g.chr3:10183797T>A	ENST00000256474.2	+	1	1106	c.266T>A	c.(265-267)cTc>cAc	p.L89H	VHL_ENST00000345392.2_Missense_Mutation_p.L89H|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13	16	15					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>A	3.37:g.10183797T>A	ENSP00000256474:p.Leu89His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986585	0.93106	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99576	0.9847	L	0.41492	1.28	0.33129	D	0.542832	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.957	D	0.97755	1.0217	10	0.87932	D	0	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	.	89;89	P40337-2;P40337	.;VHL_HUMAN	H	89	ENSP00000256474:L89H;ENSP00000344757:L89H	ENSP00000256474:L89H	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183797	T	A	10183797	3	1	136	1	0	0	0	0	1	0	0	0	17167	1551	54	5	268	5	VHL	3	10183797	Missense_Mutation	SNP	T	TCGA-B0-4714-01A-01W-1359-10		10183797	187838633	1	8076											
C1orf201	90529	hgsc.bcm.edu;ucsc.edu	37	1	24710488	24710488	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr1:24710488A>T	ENST00000374409.1	-	4	449	c.195T>A	c.(193-195)gaT>gaA	p.D65E	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.D65E|STPG1_ENST00000003583.8_Missense_Mutation_p.D18E|STPG1_ENST00000440416.1_Missense_Mutation_p.D18E	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	65					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GTCCTGGGATATCATTCTGAA	0.433																																																0													156	143	147					1																	24710488		2203	4300	6503	SO:0001583	missense	0			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.195T>A	1.37:g.24710488A>T	ENSP00000363530:p.Asp65Glu		Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	CCDS55581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.379|0.379	-0.929555|-0.929555	0.02359|0.02359	.|.	.|.	ENSG00000001460|ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986|ENST00000435187	.|.	.|.	.|.	6.03|6.03	-9.71|-9.71	0.00518|0.00518	.|.	0.520075|.	0.19756|.	N|.	0.106775|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	B;B|.	0.11235|.	0.003;0.004|.	B;B|.	0.11329|.	0.003;0.006|.	T|T	0.14811|0.14811	-1.0459|-1.0459	9|5	0.06757|.	T|.	0.87|.	-1.9517|-1.9517	2.5784|2.5784	0.04812|0.04812	0.3142:0.0867:0.3647:0.2344|0.3142:0.0867:0.3647:0.2344	.|.	65;18|.	Q5TH74;Q5TH74-3|.	CA201_HUMAN;.|.	E|K	65;18;18;65;65|42	.|.	ENSP00000003583:D18E|.	D|I	-|-	3|2	2|0	C1orf201|C1orf201	24583075|24583075	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.028000|0.028000	0.11728|0.11728	-1.145000|-1.145000	0.03194|0.03194	-1.677000|-1.677000	0.01455|0.01455	-1.426000|-1.426000	0.01102|0.01102	GAT|ATA		0.433	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		T	24710488	A	T	24710488	3	4	137	1	0	0	0	0	1	0	0	0	2029	446	16	5	833	5	C1orf201	1	24710488	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10		24710488	224540133	1	8077											
NBPF7	343505	hgsc.bcm.edu	37	1	120384017	120384017	+	IGR	SNP	A	A	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr1:120384017A>T								REG4 (29734 upstream) : ADAM30 (52138 downstream)																							ACCTGGGCTGAGCTTGTGGAC	0.577																																																0													73	79	77					1																	120384017		2203	4300	6503	SO:0001628	intergenic_variant	343505																															1.37:g.120384017A>T				Missense_Mutation	SNP		37																																																																																				0	0.577									T	120384017	A	T	120384017	1	4	137	0	1	0	0	0	0	0	0	0	10200	304	11	5		5	NBPF7	1	120384017	IGR	SNP	A	TCGA-B0-4718-01A-01D-1361-10	95673529	120384017	128866604	2	8078											
PARP1	142	hgsc.bcm.edu	37	1	226566974	226566974	+	Splice_Site	SNP	T	T	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr1:226566974T>A	ENST00000366794.5	-	12	1757	c.1614A>T	c.(1612-1614)ggA>ggT	p.G538G		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	538					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGTGTTCCAGTCCTGTCCCAG	0.547								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								0													134	123	127					1																	226566974		2203	4300	6503	SO:0001630	splice_region_variant	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1613-1A>T	1.37:g.226566974T>A			B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	CCDS1554.1																																																																																				0.547	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	Silent	A	226566974	T	A	226566974	5	1	137	1	0	0	0	0	0	0	1	0	11456	1681	58	5	1478	5	PARP1	1	226566974	Splice_Site	SNP	T	TCGA-B0-4718-01A-01D-1361-10	106182957	226566974	22683647	3	8079											
SIPA1L2	57568	hgsc.bcm.edu	37	1	232650234	232650234	+	Silent	SNP	T	T	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr1:232650234T>G	ENST00000366630.1	-	2	1210	c.852A>C	c.(850-852)tcA>tcC	p.S284S	SIPA1L2_ENST00000262861.4_Silent_p.S284S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	284					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCACCGACTCTGATTTCAACC	0.493																																																0													76	77	77					1																	232650234		1912	4117	6029	SO:0001819	synonymous_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.852A>C	1.37:g.232650234T>G			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	CCDS41474.1																																																																																				0.493	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		G	232650234	T	G	232650234	2	3	137	1	0	0	0	0	0	0	0	1	14336	1567	55	5		5	SIPA1L2	1	232650234	Silent	SNP	T	TCGA-B0-4718-01A-01D-1361-10	6083260	232650234	16600387	4	8080											
THADA	63892	hgsc.bcm.edu;ucsc.edu	37	2	43735802	43735802	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr2:43735802A>C	ENST00000405006.4	-	23	3843	c.3492T>G	c.(3490-3492)atT>atG	p.I1164M	THADA_ENST00000415080.2_Missense_Mutation_p.I874M|THADA_ENST00000330266.7_Missense_Mutation_p.I874M|THADA_ENST00000405975.2_Missense_Mutation_p.I1164M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1164										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGTAGAAAGGAATTCCAGCAC	0.408																																																0													87	83	84					2																	43735802		1900	4112	6012	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3492T>G	2.37:g.43735802A>C	ENSP00000385995:p.Ile1164Met		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.49|15.49	2.850487|2.850487	0.51270|0.51270	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.52754	.|0.65;0.65;0.65;0.65	4.61|4.61	0.553|0.553	0.17235|0.17235	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57315|0.57315	0.2045|0.2045	L|L	0.53249|0.53249	1.67|1.67	0.38843|0.38843	D|D	0.956119|0.956119	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.996;0.999;0.998;0.999	T|T	0.57148|0.57148	-0.7861|-0.7861	5|10	.|0.87932	.|D	.|0	-12.5536|-12.5536	7.7005|7.7005	0.28619|0.28619	0.6856:0.0:0.3144:0.0|0.6856:0.0:0.3144:0.0	.|.	.|874;1165;874;1164	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	C|M	478|874;1164;1165;874;1164	.|ENSP00000331105:I874M;ENSP00000386088:I1164M;ENSP00000416048:I874M;ENSP00000385995:I1164M	.|ENSP00000331105:I874M	F|I	-|-	2|3	0|3	THADA|THADA	43589306|43589306	0.993000|0.993000	0.37304|0.37304	0.987000|0.987000	0.45799|0.45799	0.982000|0.982000	0.71751|0.71751	0.295000|0.295000	0.19065|0.19065	0.003000|0.003000	0.14656|0.14656	0.533000|0.533000	0.62120|0.62120	TTC|ATT		0.408	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		C	43735802	A	C	43735802	3	2	137	1	0	0	0	0	1	0	0	0	15845	242	9	5	2433	5	THADA	2	43735802	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10		43735802	199463571	5	8081											
USP34	9736	hgsc.bcm.edu;ucsc.edu	37	2	61441707	61441707	+	Silent	SNP	G	G	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr2:61441707G>A	ENST00000398571.2	-	68	8246	c.8170C>T	c.(8170-8172)Cta>Tta	p.L2724L	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2724					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACCTGATGTAGGACTACTGTT	0.468																																																0													107	105	106					2																	61441707		2006	4175	6181	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8170C>T	2.37:g.61441707G>A			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	7.410	0.634642	0.14322	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.87	4.99	0.66335	.	.	.	.	.	T	0.70996	0.3288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68708	-0.5337	4	.	.	.	.	15.2946	0.73894	0.0678:0.0:0.9322:0.0	.	.	.	.	L	483	.	.	P	-	2	0	USP34	61295211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.791000	0.75120	2.785000	0.95823	0.655000	0.94253	CCT		0.468	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			A	61441707	G	A	61441707	2	1	137	1	0	0	0	0	0	0	0	1	17070	991	35	2		2	USP34	2	61441707	Silent	SNP	G	TCGA-B0-4718-01A-01D-1361-10	17705905	61441707	181757666	6	8082											
CCDC93	54520	hgsc.bcm.edu;ucsc.edu	37	2	118732771	118732771	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr2:118732771G>C	ENST00000376300.2	-	9	880	c.743C>G	c.(742-744)gCt>gGt	p.A248G	CCDC93_ENST00000319432.5_Missense_Mutation_p.A247G|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	248										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CACCTCTTCAGCTGCTCGAAG	0.517																																																0													264	246	252					2																	118732771		2203	4300	6503	SO:0001583	missense	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.743C>G	2.37:g.118732771G>C	ENSP00000365477:p.Ala248Gly		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	16.38	3.105834	0.56291	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.19105	2.17;2.17	4.99	4.11	0.48088	.	0.163454	0.53938	D	0.000055	T	0.18045	0.0433	L	0.56769	1.78	0.44807	D	0.997812	P	0.40638	0.725	B	0.32211	0.142	T	0.05022	-1.0911	10	0.25751	T	0.34	-9.867	12.2617	0.54655	0.0792:0.0:0.9208:0.0	.	248	Q567U6	CCD93_HUMAN	G	248;247	ENSP00000365477:A248G;ENSP00000324135:A247G	ENSP00000324135:A247G	A	-	2	0	CCDC93	118449241	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	6.091000	0.71406	1.463000	0.47967	0.557000	0.71058	GCT		0.517	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		C	118732771	G	C	118732771	3	2	137	1	0	0	0	0	1	0	0	0	2874	971	34	4	1216	4	CCDC93	2	118732771	Missense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10	57291064	118732771	124466602	7	8083			1	16		2	2	27	G		6.046966e-05
CCDC93	54520	hgsc.bcm.edu;ucsc.edu	37	2	118732797	118732797	+	Silent	SNP	G	G	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr2:118732797G>T	ENST00000376300.2	-	9	854	c.717C>A	c.(715-717)gcC>gcA	p.A239A	CCDC93_ENST00000319432.5_Silent_p.A238A|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	239										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTCCTCGTGGGCATCAGCTT	0.507																																																0													259	236	244					2																	118732797		2203	4300	6503	SO:0001819	synonymous_variant	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.717C>A	2.37:g.118732797G>T			A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Silent	SNP	ENST00000376300.2	37	CCDS2121.2																																																																																				0.507	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		T	118732797	G	T	118732797	2	4	137	1	0	0	0	0	0	0	0	1	2874	1219	43	4		4	CCDC93	2	118732797	Silent	SNP	G	TCGA-B0-4718-01A-01D-1361-10	26	118732797	124466576	8	8084			1	16		2	2	27	G		6.046966e-05
GLI2	2736	hgsc.bcm.edu	37	2	121708840	121708840	+	Silent	SNP	C	C	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr2:121708840C>T	ENST00000452319.1	+	4	336	c.276C>T	c.(274-276)agC>agT	p.S92S	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.S92S					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCAGCGGCAGCCCTGTCATCT	0.637																																																0													98	110	106					2																	121708840		2203	4300	6503	SO:0001819	synonymous_variant	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.276C>T	2.37:g.121708840C>T				Silent	SNP	ENST00000452319.1	37	CCDS33283.1																																																																																				0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121708840	C	T	121708840	2	4	137	1	0	0	0	0	0	0	0	1	6440	738	26	2		2	GLI2	2	121708840	Silent	SNP	C	TCGA-B0-4718-01A-01D-1361-10	2976043	121708840	121490533	9	8085											
CYBRD1	79901	hgsc.bcm.edu	37	2	172409900	172409900	+	Silent	SNP	T	T	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr2:172409900T>C	ENST00000321348.4	+	3	645	c.447T>C	c.(445-447)ctT>ctC	p.L149L	CYBRD1_ENST00000375252.3_Missense_Mutation_p.F80L|CYBRD1_ENST00000409484.1_Silent_p.L91L	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	149	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GGGCTCCGCTTTCTCTCCGAG	0.373																																																0													111	108	109					2																	172409900		2203	4300	6503	SO:0001819	synonymous_variant	79901			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"Cytochrome b genes"	20797	protein-coding gene	gene with protein product	"ferric-chelate reductase 3", "cytochrome b561 family, member A2"	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.447T>C	2.37:g.172409900T>C			B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	ENST00000321348.4	37	CCDS2244.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.564620	0.45694	.	.	ENSG00000071967	ENST00000375252	.	.	.	5.65	-4.57	0.03421	.	.	.	.	.	T	0.14787	0.0357	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.26052	-1.0114	6	.	.	.	-0.047	1.0222	0.01520	0.1761:0.1968:0.2905:0.3366	.	80	Q53TN4-2	.	L	80	.	.	F	+	1	0	CYBRD1	172118146	0.002000	0.14202	0.478000	0.27316	0.925000	0.55904	-0.469000	0.06648	-0.488000	0.06726	0.383000	0.25322	TTC		0.373	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843		C	172409900	T	C	172409900	2	2	137	1	0	0	0	0	0	0	0	1	4136	1841	64	3		3	CYBRD1	2	172409900	Silent	SNP	T	TCGA-B0-4718-01A-01D-1361-10	50701060	172409900	70789473	10	8086											
ABCA12	26154	hgsc.bcm.edu	37	2	215845228	215845228	+	Silent	SNP	G	G	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr2:215845228G>A	ENST00000272895.7	-	31	4938	c.4719C>T	c.(4717-4719)caC>caT	p.H1573H	ABCA12_ENST00000389661.4_Silent_p.H1255H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1573	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAGCGTGAGGTGATACCCAT	0.473																																					Ovarian(66;664 1488 5121 34295)											0													85	82	83					2																	215845228		2203	4300	6503	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4719C>T	2.37:g.215845228G>A			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.473	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		A	215845228	G	A	215845228	2	1	137	1	0	0	0	0	0	0	0	1	30	1252	44	2		2	ABCA12	2	215845228	Silent	SNP	G	TCGA-B0-4718-01A-01D-1361-10	43435328	215845228	27354145	11	8087											
C3orf10	55845	hgsc.bcm.edu	37	3	10167959	10167959	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr3:10167959A>C	ENST00000530758.1	+	3	318	c.208A>C	c.(208-210)Aaa>Caa	p.K70Q	BRK1_ENST00000256463.6_Missense_Mutation_p.K70Q	NM_018462.4	NP_060932.2	Q8WUW1	BRK1_HUMAN	BRICK1, SCAR/WAVE actin-nucleating complex subunit	70					actin cytoskeleton organization (GO:0030036)|cell motility (GO:0048870)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|protein homotrimerization (GO:0070207)|Rac protein signal transduction (GO:0016601)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(1)|skin(1)	2						ACAGGTGACAAAAGGTGAGAC	0.438																																																0													41	37	38					3																	10167959		1882	4108	5990	SO:0001583	missense	0			AF161418	CCDS54553.1	3p25.3	2011-06-07	2011-06-07	2011-06-07	ENSG00000254999	ENSG00000254999			23057	protein-coding gene	gene with protein product	"haematopoietic stem/progenitor cell protein 300", "BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog (Arabidopsis thaliana)"	611183	"chromosome 3 open reading frame 10"	C3orf10		14695531	Standard	NM_018462		Approved	MDS027, HSPC300	uc003bvb.3	Q8WUW1	OTTHUMG00000155400	ENST00000530758.1:c.208A>C	3.37:g.10167959A>C	ENSP00000432472:p.Lys70Gln		B2R5E2|Q9P082	Missense_Mutation	SNP	ENST00000530758.1	37	CCDS54553.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808023	0.50421	.	.	ENSG00000254999	ENST00000530758;ENST00000256463	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	.	.	.	0.38394	D	0.945497	B	0.18610	0.029	B	0.14578	0.011	T	0.52548	-0.8561	8	0.39692	T	0.17	.	13.8402	0.63435	1.0:0.0:0.0:0.0	.	70	Q8WUW1	BRK1_HUMAN	Q	70	.	ENSP00000444659:K70Q	K	+	1	0	BRK1	10142959	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.367000	0.66127	2.157000	0.67596	0.524000	0.50904	AAA		0.438	BRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339900.2	NM_018462		C	10167959	A	C	10167959	3	2	137	1	0	0	0	0	1	0	0	0	2209	15	1	5	218	5	C3orf10	3	10167959	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10		10167959	187854471	12	8088											
SETD2	29072	hgsc.bcm.edu	37	3	47155365	47155365	+	Splice_Site	SNP	C	C	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr3:47155365C>A	ENST00000409792.3	-	5	4758		c.e5+1			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAAGAACTTACGAAGGAAGGT	0.453			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													106	107	106					3																	47155365		2203	4300	6503	SO:0001630	splice_region_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4715+1G>T	3.37:g.47155365C>A			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317096	0.81469	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8075	0.88606	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47130369	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.256000	0.78350	2.518000	0.84900	0.585000	0.79938	.		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Intron	A	47155365	C	A	47155365	5	1	137	1	0	0	0	0	0	0	1	0	14137	550	19	4	3046	4	SETD2	3	47155365	Splice_Site	SNP	C	TCGA-B0-4718-01A-01D-1361-10	36987406	47155365	150867065	13	8089											
PBRM1	55193	ucsc.edu	37	3	52643806	52643806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	T	-	T	T	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr3:52643806delT	ENST00000296302.7	-	16	2091	c.2090delA	c.(2089-2091)tatfs	p.Y697fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.Y712fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.Y697fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.Y697fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.Y697fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.Y665fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.Y697fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.Y712fs			Q86U86	PB1_HUMAN	polybromo 1	697	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATAGTCAGATAGTAGTCAGG	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													117	122	121					3																	52643806		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2090delA	3.37:g.52643806delT	ENSP00000296302:p.Tyr697fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52643806	T	-	52643806	7	5	137	1	0	1	0	1	0	0	0	0	11493	1406	49	0	2870	0	PBRM1	3	52643806	Frame_Shift_Del	DEL	T	TCGA-B0-4718-01A-01D-1361-10	5488441	52643806	145378624	14	8090											
SLC25A26	26018	hgsc.bcm.edu	37	3	66428112	66428112	+	IGR	SNP	A	A	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr3:66428112A>C	ENST00000273261.3	-	0	5273				SLC25A26_ENST00000536651.1_Splice_Site|LRIG1_ENST00000496559.2_5'Flank|SLC25A26_ENST00000413054.1_Splice_Site|SLC25A26_ENST00000336733.6_Splice_Site|SLC25A26_ENST00000354883.6_Splice_Site	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1						innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTTTTCCCCTAGATTATTTGC	0.433																																																0													105	109	108					3																	66428112		2203	4300	6503	SO:0001628	intergenic_variant	115286			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727		3.37:g.66428112A>C			Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Splice_Site	SNP	ENST00000273261.3	37	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.074014	0.55646	.	.	ENSG00000144741	ENST00000354883;ENST00000336733	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A26	66510802	1.000000	0.71417	0.941000	0.38009	0.369000	0.29798	8.631000	0.90991	2.326000	0.78906	0.533000	0.62120	.		0.433	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66428112	A	C	66428112	1	2	137	0	1	0	0	0	0	0	0	0	14495	434	15	5		5	SLC25A26	3	66428112	IGR	SNP	A	TCGA-B0-4718-01A-01D-1361-10	13784306	66428112	131594318	15	8091											
POLQ	10721	hgsc.bcm.edu	37	3	121158955	121158955	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr3:121158955G>T	ENST00000264233.5	-	27	7401	c.7273C>A	c.(7273-7275)Caa>Aaa	p.Q2425K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2425					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTCATGAATTGATTAATCCCT	0.358								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											0													76	76	76					3																	121158955		2201	4299	6500	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7273C>A	3.37:g.121158955G>T	ENSP00000264233:p.Gln2425Lys		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	1.428	-0.570929	0.03910	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96365	-3.99	4.85	3.01	0.34805	DNA-directed DNA polymerase, family A, palm domain (2);	0.910788	0.09715	N	0.765129	D	0.85057	0.5610	N	0.01668	-0.77	0.21445	N	0.999685	B;B	0.17465	0.022;0.003	B;B	0.16722	0.016;0.002	T	0.75786	-0.3195	10	0.05721	T	0.95	.	6.5595	0.22479	0.0877:0.0:0.4334:0.4789	.	2425;1597	O75417;O75417-2	DPOLQ_HUMAN;.	K	2048;2425;2561	ENSP00000264233:Q2425K	ENSP00000264233:Q2425K	Q	-	1	0	POLQ	122641645	0.978000	0.34361	1.000000	0.80357	0.834000	0.47266	1.586000	0.36611	0.620000	0.30215	0.563000	0.77884	CAA		0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		T	121158955	G	T	121158955	3	4	137	1	0	0	0	0	1	0	0	0	12210	1299	45	4	515	4	POLQ	3	121158955	Missense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10	54730843	121158955	76863475	16	8092											
ZBBX	79740	hgsc.bcm.edu	37	3	166960361	166960361	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr3:166960361T>C	ENST00000392766.2	-	20	2548	c.2208A>G	c.(2206-2208)atA>atG	p.I736M	ZBBX_ENST00000392767.2_Missense_Mutation_p.I736M|ZBBX_ENST00000392764.1_Missense_Mutation_p.I707M|ZBBX_ENST00000307529.5_Missense_Mutation_p.I775M|ZBBX_ENST00000455345.2_Missense_Mutation_p.I775M	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	736						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAATCTGACTTATATTCAGTG	0.368																																																0													96	94	95					3																	166960361		1827	4077	5904	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2208A>G	3.37:g.166960361T>C	ENSP00000376519:p.Ile736Met		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	4.980	0.181967	0.09495	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.48	1.9	0.25705	.	1.180180	0.06171	N	0.677624	T	0.40448	0.1117	L	0.29908	0.895	0.09310	N	0.999995	B;B	0.14438	0.007;0.01	B;B	0.14023	0.01;0.004	T	0.29971	-0.9994	10	0.41790	T	0.15	1.9145	6.3855	0.21558	0.0:0.2809:0.0:0.7191	.	775;736	A8MT70-2;A8MT70	.;ZBBX_HUMAN	M	736;736;775;775;707	ENSP00000376519:I736M;ENSP00000376520:I736M;ENSP00000390232:I775M;ENSP00000305065:I775M;ENSP00000376517:I707M	ENSP00000305065:I775M	I	-	3	3	ZBBX	168443055	0.005000	0.15991	0.232000	0.24009	0.005000	0.04900	0.072000	0.14617	0.396000	0.25283	-0.415000	0.06103	ATA		0.368	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		C	166960361	T	C	166960361	3	2	137	1	0	0	0	0	1	0	0	0	17521	1744	61	3	202	3	ZBBX	3	166960361	Missense_Mutation	SNP	T	TCGA-B0-4718-01A-01D-1361-10	45801406	166960361	31062069	17	8093											
SLC25A4	291	hgsc.bcm.edu	37	4	186067039	186067039	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr4:186067039C>G	ENST00000281456.6	+	3	857	c.725C>G	c.(724-726)tCc>tGc	p.S242C		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	242					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	ATGATGCAGTCCGGCCGGAAA	0.507																																																0													80	69	73					4																	186067039		2203	4300	6503	SO:0001583	missense	291			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"Solute carriers"	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.725C>G	4.37:g.186067039C>G	ENSP00000281456:p.Ser242Cys		D3DP59	Missense_Mutation	SNP	ENST00000281456.6	37	CCDS34114.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337197	0.60963	.	.	ENSG00000151729	ENST00000281456	T	0.80214	-1.35	5.27	5.27	0.74061	Mitochondrial carrier domain (2);	0.053328	0.85682	D	0.000000	D	0.93963	0.8067	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95850	0.8874	10	0.87932	D	0	-0.0879	19.0978	0.93260	0.0:1.0:0.0:0.0	.	242	P12235	ADT1_HUMAN	C	242	ENSP00000281456:S242C	ENSP00000281456:S242C	S	+	2	0	SLC25A4	186304033	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.638000	0.83328	2.735000	0.93741	0.655000	0.94253	TCC		0.507	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151		G	186067039	C	G	186067039	3	3	137	1	0	0	0	0	1	0	0	0	14510	855	30	4	735	4	SLC25A4	4	186067039	Missense_Mutation	SNP	C	TCGA-B0-4718-01A-01D-1361-10		186067039	5087237	18	8094											
AHRR	57491	hgsc.bcm.edu;ucsc.edu	37	5	413518	413518	+	Silent	SNP	A	A	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr5:413518A>G	ENST00000505113.1	+	5	467	c.423A>G	c.(421-423)gcA>gcG	p.A141A	AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000316418.5_Silent_p.A141A	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	141	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ATGCATCAGCAACGATCGTGG	0.398																																																0													135	124	128					5																	413518		1907	4115	6022	SO:0001819	synonymous_variant	57491			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.423A>G	5.37:g.413518A>G			A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	CCDS56355.1																																																																																				0.398	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		G	413518	A	G	413518	2	3	137	1	0	0	0	0	0	0	0	1	417	117	5	3		3	AHRR	5	413518	Silent	SNP	A	TCGA-B0-4718-01A-01D-1361-10		413518	180501742	19	8095											
GRIA1	2890	hgsc.bcm.edu;ucsc.edu	37	5	153149729	153149729	+	Splice_Site	SNP	G	G	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr5:153149729G>A	ENST00000285900.5	+	13	2367	c.2024G>A	c.(2023-2025)aGg>aAg	p.R675K	GRIA1_ENST00000521843.2_Splice_Site_p.R606K|GRIA1_ENST00000448073.4_Splice_Site_p.R685K|GRIA1_ENST00000340592.5_Splice_Site_p.R675K|GRIA1_ENST00000518783.1_Splice_Site_p.R685K|GRIA1_ENST00000518142.1_Splice_Site_p.R595K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	675					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCCTACCAGAGGTCTAAAATT	0.463																																																0													151	147	149					5																	153149729		2203	4300	6503	SO:0001630	splice_region_variant	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2023-1G>A	5.37:g.153149729G>A			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958531	0.74016	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	N	0.12182	0.205	0.80722	D	1	D;D;B;D;B	0.71674	0.998;0.998;0.012;0.997;0.238	D;D;B;D;B	0.80764	0.994;0.994;0.016;0.99;0.145	T	0.26849	-1.0091	10	0.15499	T	0.54	.	18.1724	0.89751	0.0:0.0:1.0:0.0	.	685;685;595;675;675	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	K	675;675;595;629;675;608;606;685;685	ENSP00000285900:R675K;ENSP00000427920:R595K;ENSP00000339343:R675K;ENSP00000427864:R608K;ENSP00000442108:R606K;ENSP00000428994:R685K;ENSP00000415569:R685K	ENSP00000285900:R675K	R	+	2	0	GRIA1	153129922	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.640000	0.98453	2.525000	0.85131	0.655000	0.94253	AGG		0.463	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		Missense_Mutation	A	153149729	G	A	153149729	5	1	137	1	0	0	0	0	0	0	1	0	6769	1014	35	2	2074	2	GRIA1	5	153149729	Splice_Site	SNP	G	TCGA-B0-4718-01A-01D-1361-10	152736211	153149729	27765531	20	8096											
FGFR4	2264	hgsc.bcm.edu;ucsc.edu	37	5	176516674	176516674	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr5:176516674C>T	ENST00000292408.4	+	2	316	c.71C>T	c.(70-72)gCc>gTc	p.A24V	FGFR4_ENST00000292410.3_Missense_Mutation_p.A24V|FGFR4_ENST00000393648.2_Missense_Mutation_p.A24V|FGFR4_ENST00000393637.1_Missense_Mutation_p.A24V|FGFR4_ENST00000502906.1_Missense_Mutation_p.A24V|FGFR4_ENST00000507708.1_3'UTR	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	24	Ig-like C2-type 1.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TCCCTGGAGGCCTCTGAGGAA	0.642										TSP Lung(9;0.080)																																						0													54	50	51					5																	176516674		2203	4300	6503	SO:0001583	missense	2264			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.71C>T	5.37:g.176516674C>T	ENSP00000292408:p.Ala24Val		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964768	0.34659	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000514472;ENST00000502906;ENST00000292410;ENST00000510911;ENST00000513166;ENST00000393637	T;T;T;D;T;T;T;D;T	0.89681	-1.19;-0.96;-1.15;-2.55;-1.19;-1.18;0.63;-2.52;-1.18	4.63	2.85	0.33270	.	.	.	.	.	T	0.79341	0.4429	N	0.22421	0.69	0.27093	N	0.962812	B;B;B;B;B	0.12630	0.003;0.0;0.0;0.006;0.0	B;B;B;B;B	0.18263	0.002;0.001;0.001;0.021;0.001	T	0.63998	-0.6510	9	0.22109	T	0.4	.	7.3654	0.26770	0.0:0.7938:0.0:0.2062	.	24;24;24;24;24	B5A965;B4DVP5;P22455-2;E7EWF4;P22455	.;.;.;.;FGFR4_HUMAN	V	24	ENSP00000292408:A24V;ENSP00000424905:A24V;ENSP00000377259:A24V;ENSP00000426492:A24V;ENSP00000424960:A24V;ENSP00000292410:A24V;ENSP00000427222:A24V;ENSP00000422889:A24V;ENSP00000377254:A24V	ENSP00000292408:A24V	A	+	2	0	FGFR4	176449280	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	1.687000	0.37680	0.513000	0.28278	0.491000	0.48974	GCC		0.642	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			T	176516674	C	T	176516674	3	4	137	1	0	0	0	0	1	0	0	0	5870	739	26	2	73	2	FGFR4	5	176516674	Missense_Mutation	SNP	C	TCGA-B0-4718-01A-01D-1361-10	23366945	176516674	4398586	21	8097											
LRRC16A	55604	hgsc.bcm.edu;ucsc.edu	37	6	25538187	25538187	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr6:25538187G>T	ENST00000329474.6	+	25	2540	c.2172G>T	c.(2170-2172)atG>atT	p.M724I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	724					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCGGCTCATGCGTGATGCTA	0.388																																																0													48	46	47					6																	25538187		1882	4119	6001	SO:0001583	missense	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2172G>T	6.37:g.25538187G>T	ENSP00000331983:p.Met724Ile		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	5.934	0.356365	0.11239	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.08720	3.06	5.79	5.79	0.91817	.	0.076532	0.85682	D	0.000000	T	0.01189	0.0039	N	0.01168	-0.975	0.80722	D	1	B;B;B;B	0.25441	0.045;0.077;0.126;0.045	B;B;B;B	0.25140	0.026;0.017;0.058;0.026	T	0.40813	-0.9543	10	0.02654	T	1	-26.1428	19.6157	0.95633	0.0:0.0:1.0:0.0	.	724;724;724;724	Q5VZK9;B2RTQ5;Q5VZK9-2;B8X1J0	LR16A_HUMAN;.;.;.	I	724	ENSP00000331983:M724I	ENSP00000331983:M724I	M	+	3	0	LRRC16A	25646166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.376000	0.59556	2.731000	0.93534	0.591000	0.81541	ATG		0.388	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		T	25538187	G	T	25538187	3	4	137	1	0	0	0	0	1	0	0	0	8973	1319	46	4	2270	4	LRRC16A	6	25538187	Missense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10		25538187	145576880	22	8098											
PTK7	5754	hgsc.bcm.edu;ucsc.edu	37	6	43109480	43109480	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr6:43109480G>T	ENST00000230419.4	+	11	1914	c.1693G>T	c.(1693-1695)Gct>Tct	p.A565S	PTK7_ENST00000349241.2_Missense_Mutation_p.A435S|PTK7_ENST00000352931.2_Missense_Mutation_p.A565S|PTK7_ENST00000481273.1_Missense_Mutation_p.A573S|PTK7_ENST00000345201.2_Missense_Mutation_p.A525S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	565	Ig-like C2-type 6.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCGAGATGACGCTGGCAACTA	0.612																																																0													141	136	138					6																	43109480		2203	4300	6503	SO:0001583	missense	5754			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1693G>T	6.37:g.43109480G>T	ENSP00000230419:p.Ala565Ser		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402708	0.62288	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273	T;T;T;T;T	0.26373	1.74;2.81;1.74;2.81;1.74	5.23	5.23	0.72850	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106076	0.64402	D	0.000005	T	0.14614	0.0353	N	0.17872	0.535	0.58432	D	0.999995	B;P;B;P;P	0.44659	0.058;0.824;0.383;0.84;0.592	B;P;B;P;B	0.49922	0.176;0.626;0.273;0.532;0.279	T	0.05178	-1.0901	10	0.23891	T	0.37	.	14.6159	0.68547	0.0:0.0:0.845:0.155	.	573;435;525;565;565	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308	.;.;.;.;PTK7_HUMAN	S	565;435;565;525;573	ENSP00000230419:A565S;ENSP00000325462:A435S;ENSP00000326029:A565S;ENSP00000325992:A525S;ENSP00000418754:A573S	ENSP00000230418:A565S	A	+	1	0	PTK7	43217458	1.000000	0.71417	0.262000	0.24481	0.519000	0.34347	4.793000	0.62474	2.440000	0.82611	0.561000	0.74099	GCT		0.612	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			T	43109480	G	T	43109480	3	4	137	1	0	0	0	0	1	0	0	0	12771	1087	38	4	1735	4	PTK7	6	43109480	Missense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10	17571293	43109480	128005587	23	8099											
SAMD3	154075	hgsc.bcm.edu;ucsc.edu	37	6	130505739	130505739	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr6:130505739C>A	ENST00000368134.2	-	8	1021	c.413G>T	c.(412-414)aGc>aTc	p.S138I	SAMD3_ENST00000439090.2_Missense_Mutation_p.S138I|SAMD3_ENST00000532763.1_Missense_Mutation_p.S136I|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Missense_Mutation_p.S138I|SAMD3_ENST00000437477.2_Missense_Mutation_p.S138I|SAMD3_ENST00000457563.2_Missense_Mutation_p.S162I	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	138										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TAATGCTTTGCTTCTTGCTAG	0.368																																																0													97	88	91					6																	130505739		2203	4300	6503	SO:0001583	missense	154075			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.413G>T	6.37:g.130505739C>A	ENSP00000357116:p.Ser138Ile		B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	6.031	0.374018	0.11409	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.44083	0.94;0.93;0.94;0.94;0.96;0.95;0.96;0.96;0.96	5.67	3.29	0.37713	.	0.398707	0.26616	N	0.023387	T	0.07234	0.0183	N	0.08118	0	0.20764	N	0.999852	B;P;B;B	0.44521	0.229;0.837;0.167;0.105	B;B;B;B	0.32022	0.063;0.139;0.044;0.029	T	0.07424	-1.0773	10	0.72032	D	0.01	.	8.5343	0.33353	0.0:0.2228:0.0:0.7772	.	162;137;138;138	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	I	138;162;138;138;136;138;137;138;135	ENSP00000357116:S138I;ENSP00000402092:S162I;ENSP00000403565:S138I;ENSP00000391163:S138I;ENSP00000436088:S136I;ENSP00000324874:S138I;ENSP00000436115:S137I;ENSP00000435875:S138I;ENSP00000434139:S135I	ENSP00000324874:S138I	S	-	2	0	SAMD3	130547432	0.992000	0.36948	0.996000	0.52242	0.096000	0.18686	0.884000	0.28214	0.426000	0.26116	-0.793000	0.03317	AGC		0.368	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		A	130505739	C	A	130505739	3	1	137	1	0	0	0	0	1	0	0	0	13826	797	28	4	1193	4	SAMD3	6	130505739	Missense_Mutation	SNP	C	TCGA-B0-4718-01A-01D-1361-10	87396259	130505739	40609328	24	8100											
C6orf211	79624	hgsc.bcm.edu	37	6	151790069	151790069	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr6:151790069C>T	ENST00000367294.3	+	5	1409	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	C6orf211_ENST00000545879.1_Missense_Mutation_p.P265S	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	384										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GTTTTCTGTTCCATTTCATCA	0.418																																																0													64	69	67					6																	151790069		2203	4300	6503	SO:0001583	missense	79624			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.1150C>T	6.37:g.151790069C>T	ENSP00000356263:p.Pro384Ser		Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844358	0.32606	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.08282	3.11;3.11	6.16	5.29	0.74685	Domain of unknown function DUF89 (2);	0.287421	0.39210	N	0.001434	T	0.05777	0.0151	L	0.39566	1.225	0.29831	N	0.830056	B	0.31519	0.327	B	0.41619	0.361	T	0.24048	-1.0171	10	0.33940	T	0.23	.	14.9931	0.71406	0.0:0.9326:0.0:0.0674	.	384	Q9H993	CF211_HUMAN	S	384;265	ENSP00000356263:P384S;ENSP00000444121:P265S	ENSP00000356263:P384S	P	+	1	0	C6orf211	151831762	0.408000	0.25360	0.264000	0.24511	0.877000	0.50540	1.744000	0.38268	2.937000	0.99478	0.650000	0.86243	CCA		0.418	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		T	151790069	C	T	151790069	3	4	137	1	0	0	0	0	1	0	0	0	2356	855	30	2	1168	2	C6orf211	6	151790069	Missense_Mutation	SNP	C	TCGA-B0-4718-01A-01D-1361-10	21284330	151790069	19324998	25	8101											
POM121C	100101267	hgsc.bcm.edu	37	7	75055733	75055733	+	Silent	SNP	G	G	C	rs372291559		TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr7:75055733G>C	ENST00000257665.5	-	6	1208	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L	POM121C_ENST00000473168.1_Intron|POM121C_ENST00000453279.2_Silent_p.L161L			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	403	Pore side. {ECO:0000255}.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTCTCTTCCAGAGCTAAAAAT	0.448																																																0													36	45	42					7																	75055733		1138	3018	4156	SO:0001819	synonymous_variant	100101267				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1209C>G	7.37:g.75055733G>C			O75115|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000257665.5	37																																																																																					0.448	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		C	75055733	G	C	75055733	2	2	137	1	0	0	0	0	0	0	0	1	12242	929	33	4		4	POM121C	7	75055733	Silent	SNP	G	TCGA-B0-4718-01A-01D-1361-10		75055733	84082930	26	8102											
CBLL1	79872	hgsc.bcm.edu;ucsc.edu	37	7	107393906	107393906	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr7:107393906C>G	ENST00000440859.3	+	3	699	c.232C>G	c.(232-234)Ctg>Gtg	p.L78V	CBLL1_ENST00000222597.2_Missense_Mutation_p.L77V|CBLL1_ENST00000415884.2_Missense_Mutation_p.L78V	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	78					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AGGGGGTGAGCTGTTTGCAAA	0.299																																																0													67	75	72					7																	107393906		2203	4300	6503	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.232C>G	7.37:g.107393906C>G	ENSP00000401277:p.Leu78Val		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	C	6.502	0.460876	0.12342	.	.	ENSG00000105879	ENST00000440859;ENST00000222597;ENST00000420796;ENST00000415884;ENST00000417616	T;T;T	0.32023	1.49;1.47;1.53	5.67	3.87	0.44632	.	0.429133	0.23149	N	0.051373	T	0.17831	0.0428	L	0.36672	1.1	0.25024	N	0.991311	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30563	-0.9974	10	0.08837	T	0.75	-1.2181	4.1847	0.10392	0.2354:0.459:0.2317:0.0739	.	77;78	B7ZM03;Q75N03	.;HAKAI_HUMAN	V	78;77;28;28;24	ENSP00000401277:L78V;ENSP00000222597:L77V;ENSP00000410615:L28V	ENSP00000222597:L77V	L	+	1	2	CBLL1	107181142	0.992000	0.36948	0.268000	0.24571	0.320000	0.28249	1.149000	0.31626	0.754000	0.32968	0.563000	0.77884	CTG		0.299	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		G	107393906	C	G	107393906	3	3	137	1	0	0	0	0	1	0	0	0	2705	796	28	4	242	4	CBLL1	7	107393906	Missense_Mutation	SNP	C	TCGA-B0-4718-01A-01D-1361-10	32338173	107393906	51744757	27	8103											
LPL	4023	hgsc.bcm.edu;ucsc.edu	37	8	19819627	19819627	+	Splice_Site	SNP	G	G	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr8:19819627G>A	ENST00000311322.8	+	9	1794	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	442	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CTTCCACAGGGTGATCTTCTG	0.403																																																0													142	132	135					8																	19819627		2203	4300	6503	SO:0001630	splice_region_variant	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1323-1G>A	8.37:g.19819627G>A			B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	9.899	1.206253	0.22205	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	T	0.68025	-0.3	5.89	5.02	0.67125	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.476837	0.24256	N	0.040122	T	0.55433	0.1920	N	0.20357	0.565	0.38057	D	0.935966	P	0.37663	0.604	P	0.45712	0.491	T	0.63747	-0.6567	8	.	.	.	-16.0923	7.6812	0.28515	0.0818:0.0:0.7558:0.1623	.	442	P06858	LIPL_HUMAN	M	442;428	ENSP00000309757:V442M	.	V	+	1	0	LPL	19863907	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	1.349000	0.33998	1.504000	0.48704	0.655000	0.94253	GTG		0.403	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		Missense_Mutation	A	19819627	G	A	19819627	5	1	137	1	0	0	0	0	0	0	1	0	8923	1275	44	2	1358	2	LPL	8	19819627	Splice_Site	SNP	G	TCGA-B0-4718-01A-01D-1361-10		19819627	126544395	28	8104											
PLAT	5327	hgsc.bcm.edu;ucsc.edu	37	8	42046557	42046557	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr8:42046557A>G	ENST00000220809.4	-	4	404	c.148T>C	c.(148-150)Tac>Cac	p.Y50H	PLAT_ENST00000429089.2_Missense_Mutation_p.Y50H|PLAT_ENST00000519510.1_Missense_Mutation_p.Y50H|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.Y50H|PLAT_ENST00000524009.1_Missense_Mutation_p.Y50H|PLAT_ENST00000429710.2_Missense_Mutation_p.Y50H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	50	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.|Important for binding to annexin A2.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TGTTGCTGGTATATCATCTGC	0.502																																																0													175	169	171					8																	42046557		2203	4300	6503	SO:0001583	missense	5327				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.148T>C	8.37:g.42046557A>G	ENSP00000220809:p.Tyr50His		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.595683	0.28445	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000519510;ENST00000429710;ENST00000524009;ENST00000520523;ENST00000521694	T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.25	5.25	0.73442	Fibronectin, type I (4);Complement control module (1);	0.308175	0.31461	N	0.007609	D	0.83575	0.5284	M	0.70903	2.155	0.43965	D	0.99664	P;P;P;B	0.41978	0.767;0.642;0.767;0.058	P;P;P;B	0.52424	0.698;0.698;0.505;0.096	D	0.84312	0.0511	10	0.49607	T	0.09	.	13.7746	0.63046	1.0:0.0:0.0:0.0	.	50;50;50;50	B4DNJ1;B4DN26;B4DV92;P00750	.;.;.;TPA_HUMAN	H	50	ENSP00000270189:Y50H;ENSP00000392045:Y50H;ENSP00000220809:Y50H;ENSP00000428886:Y50H;ENSP00000407861:Y50H;ENSP00000429401:Y50H;ENSP00000428797:Y50H;ENSP00000429801:Y50H	ENSP00000220809:Y50H	Y	-	1	0	PLAT	42165714	0.999000	0.42202	0.174000	0.22961	0.053000	0.15095	4.878000	0.63093	1.995000	0.58328	0.477000	0.44152	TAC		0.502	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		G	42046557	A	G	42046557	3	3	137	1	0	0	0	0	1	0	0	0	12023	449	16	3	1584	3	PLAT	8	42046557	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10	22226930	42046557	104317465	29	8105											
CDK20	23552	hgsc.bcm.edu	37	9	90585696	90585696	+	Silent	SNP	G	G	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr9:90585696G>T	ENST00000325303.8	-	4	800	c.495C>A	c.(493-495)gcC>gcA	p.A165A	CDK20_ENST00000375871.4_Silent_p.A165A|CDK20_ENST00000375883.3_Silent_p.A165A|CDK20_ENST00000336654.5_Silent_p.A178A|CDK20_ENST00000605159.1_Silent_p.A165A	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						CCTACCTGGTGGCCACCTGGT	0.602																																																0													44	47	46					9																	90585696		2203	4300	6503	SO:0001819	synonymous_variant	23552			AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"Cyclin-dependent kinases"	21420	protein-coding gene	gene with protein product		610076	"cell cycle related kinase"	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.495C>A	9.37:g.90585696G>T			A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Silent	SNP	ENST00000325303.8	37	CCDS35060.1																																																																																				0.602	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119		T	90585696	G	T	90585696	2	4	137	1	0	0	0	0	0	0	0	1	3139	1335	47	4		4	CDK20	9	90585696	Silent	SNP	G	TCGA-B0-4718-01A-01D-1361-10		90585696	50627735	30	8106											
PTCH1	5727	hgsc.bcm.edu	37	9	98231217	98231217	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr9:98231217G>T	ENST00000331920.6	-	14	2365	c.2066C>A	c.(2065-2067)cCc>cAc	p.P689H	PTCH1_ENST00000421141.1_Missense_Mutation_p.P538H|PTCH1_ENST00000375274.2_Missense_Mutation_p.P688H|PTCH1_ENST00000430669.2_Missense_Mutation_p.P623H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P538H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P538H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P623H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	689					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.P689L(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACGGTGACGGGCTGCACAGA	0.632																																																2	Substitution - Missense(2)	skin(2)											123	116	119					9																	98231217		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2066C>A	9.37:g.98231217G>T	ENSP00000332353:p.Pro689His		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782729	0.90282	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90955	-2.75;-2.74;-2.73;-2.73;-2.74;-2.73;-2.76	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.93552	0.7942	M	0.74881	2.28	0.80722	D	1	D;D;D;B	0.59357	0.985;0.975;0.964;0.237	P;P;P;B	0.55161	0.77;0.694;0.688;0.122	D	0.93150	0.6549	10	0.41790	T	0.15	-20.4818	18.1325	0.89606	0.0:0.0:1.0:0.0	.	538;623;688;689	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	H	689;623;538;538;125;623;538;688	ENSP00000332353:P689H;ENSP00000389744:P623H;ENSP00000399981:P538H;ENSP00000396135:P538H;ENSP00000410287:P623H;ENSP00000414823:P538H;ENSP00000364423:P688H	ENSP00000332353:P689H	P	-	2	0	PTCH1	97271038	1.000000	0.71417	0.964000	0.40570	0.942000	0.58702	9.308000	0.96247	2.505000	0.84491	0.557000	0.71058	CCC		0.632	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98231217	G	T	98231217	3	4	137	1	0	0	0	0	1	0	0	0	12735	1232	43	4	2317	4	PTCH1	9	98231217	Missense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10	7645521	98231217	42982214	31	8107											
ROD1	9991	hgsc.bcm.edu;ucsc.edu	37	9	114993689	114993689	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr9:114993689A>C	ENST00000374255.2	-	11	1256	c.1109T>G	c.(1108-1110)aTc>aGc	p.I370S	PTBP3_ENST00000458258.1_Missense_Mutation_p.I376S|PTBP3_ENST00000334318.6_Missense_Mutation_p.I373S|PTBP3_ENST00000374257.1_Missense_Mutation_p.I342S|PTBP3_ENST00000343327.2_Missense_Mutation_p.I275S			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	370	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ATGTGGTGTGATAAGCTGTAA	0.274																																																0													78	78	78					9																	114993689		2203	4299	6502	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1109T>G	9.37:g.114993689A>C	ENSP00000363373:p.Ile370Ser		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	ENST00000374255.2	37	CCDS6784.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.734525	0.48939	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.56776	3.26;3.26;0.44;3.26;1.46	5.36	4.2	0.49525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.339109	0.29752	N	0.011294	T	0.47948	0.1473	L	0.49699	1.58	0.49687	D	0.999812	B;B;B;P;B;B	0.42518	0.228;0.09;0.114;0.782;0.107;0.171	B;B;B;B;B;B	0.41174	0.091;0.124;0.066;0.349;0.058;0.124	T	0.44452	-0.9327	10	0.49607	T	0.09	-0.6126	11.2789	0.49181	0.8629:0.0:0.0:0.1371	.	342;342;275;373;370;376	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	S	342;373;376;370;275	ENSP00000363375:I342S;ENSP00000334499:I373S;ENSP00000414921:I376S;ENSP00000363373:I370S;ENSP00000340705:I275S	ENSP00000334499:I373S	I	-	2	0	ROD1	114033510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.132000	0.77251	0.841000	0.35020	0.533000	0.62120	ATC		0.274	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1			C	114993689	A	C	114993689	3	2	137	1	0	0	0	0	1	0	0	0	13525	333	12	5	569	5	ROD1	9	114993689	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10	16762472	114993689	26219742	32	8108											
PARD3	56288	hgsc.bcm.edu;ucsc.edu	37	10	34671492	34671492	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr10:34671492T>A	ENST00000374789.3	-	9	1700	c.1375A>T	c.(1375-1377)Agg>Tgg	p.R459W	PARD3_ENST00000350537.4_Missense_Mutation_p.R459W|PARD3_ENST00000374794.3_Missense_Mutation_p.R415W|PARD3_ENST00000374773.1_Missense_Mutation_p.R459W|PARD3_ENST00000374790.3_Missense_Mutation_p.R415W|PARD3_ENST00000340077.5_Missense_Mutation_p.R459W|PARD3_ENST00000374788.3_Missense_Mutation_p.R459W|PARD3_ENST00000374776.1_Missense_Mutation_p.R459W|PARD3_ENST00000545693.1_Missense_Mutation_p.R459W|PARD3_ENST00000545260.1_Missense_Mutation_p.R415W|PARD3_ENST00000544292.1_Missense_Mutation_p.R189W|PARD3_ENST00000346874.4_Missense_Mutation_p.R459W	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	459					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATATTAAGCCTCTTGCCTATT	0.418																																																0													119	120	120					10																	34671492		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1375A>T	10.37:g.34671492T>A	ENSP00000363921:p.Arg459Trp		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287097	0.80803	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.88	2.08	0.27032	PDZ/DHR/GLGF (1);	0.170844	0.64402	D	0.000008	T	0.36936	0.0985	M	0.61703	1.905	0.50813	D	0.999899	D;D;D;D;D;D;D;P;P;D;D;D;D;D;D	0.71674	0.991;0.989;0.965;0.996;0.965;0.996;0.996;0.934;0.892;0.993;0.997;0.997;0.993;0.998;0.992	P;P;P;D;P;D;D;P;P;P;P;P;D;D;P	0.71870	0.901;0.744;0.856;0.926;0.856;0.926;0.926;0.633;0.516;0.846;0.9;0.856;0.937;0.975;0.798	T	0.10683	-1.0619	10	0.72032	D	0.01	.	14.6114	0.68519	0.0:0.0:0.4761:0.5239	.	415;415;459;459;459;459;459;459;415;459;459;459;459;459;189	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	W	459;415;459;459;459;415;459;415;459;459;459;189	ENSP00000443147:R459W;ENSP00000440857:R415W;ENSP00000363921:R459W;ENSP00000363920:R459W;ENSP00000340591:R459W;ENSP00000363926:R415W;ENSP00000311986:R459W;ENSP00000363922:R415W;ENSP00000363908:R459W;ENSP00000341844:R459W;ENSP00000363905:R459W;ENSP00000444429:R189W	ENSP00000341844:R459W	R	-	1	2	PARD3	34711498	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	3.638000	0.54332	0.090000	0.17273	0.533000	0.62120	AGG		0.418	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		A	34671492	T	A	34671492	3	1	137	1	0	0	0	0	1	0	0	0	11445	1550	54	5	2798	5	PARD3	10	34671492	Missense_Mutation	SNP	T	TCGA-B0-4718-01A-01D-1361-10		34671492	100863255	33	8109											
ATRNL1	26033	hgsc.bcm.edu;ucsc.edu	37	10	117075206	117075206	+	Silent	SNP	C	C	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr10:117075206C>T	ENST00000355044.3	+	18	3123	c.2997C>T	c.(2995-2997)ccC>ccT	p.P999P	ATRNL1_ENST00000423111.2_Silent_p.P96P|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	999	PSI 5.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATCTTTGCCCCAAAGAAAAGA	0.408																																																0													103	98	100					10																	117075206		2203	4300	6503	SO:0001819	synonymous_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2997C>T	10.37:g.117075206C>T			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	9.052	0.992449	0.18966	.	.	ENSG00000107518	ENST00000526373	.	.	.	5.34	-0.14	0.13456	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.0648	3.6639	0.08249	0.2646:0.3933:0.0:0.3421	.	.	.	.	X	129	.	.	Q	+	1	0	ATRNL1	117065196	0.067000	0.21026	0.997000	0.53966	0.992000	0.81027	-0.578000	0.05841	-0.076000	0.12775	0.455000	0.32223	CAA		0.408	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		T	117075206	C	T	117075206	2	4	137	1	0	0	0	0	0	0	0	1	1207	581	21	2		2	ATRNL1	10	117075206	Silent	SNP	C	TCGA-B0-4718-01A-01D-1361-10	82403714	117075206	18459541	34	8110											
DMBT1	1755	hgsc.bcm.edu	37	10	124358420	124358420	+	Silent	SNP	C	C	G	rs2277242	byFrequency	TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr10:124358420C>G	ENST00000338354.3	+	26	3193	c.3087C>G	c.(3085-3087)gtC>gtG	p.V1029V	DMBT1_ENST00000368955.3_Silent_p.V1019V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.V1019V|DMBT1_ENST00000368956.2_Silent_p.V530V|DMBT1_ENST00000330163.4_Silent_p.V530V|DMBT1_ENST00000368909.3_Silent_p.V1029V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1029	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGCCAATGTCGTCTGCAGGC	0.602													g|||	642	0.128195	0.1566	0.1052	5008	,	,		20028	0.2093		0.0368	False		,,,				2504	0.1166				Ovarian(182;93 2026 18125 22222 38972)											0								G	,,	605,3461		52,501,1480	264	263	263		1590,3087,3057	-0.8	0.9	10	dbSNP_100	263	241,8183		3,235,3974	no	coding-synonymous,coding-synonymous,coding-synonymous	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,,	55,736,5454	GG,GC,CC		2.8609,14.8795,6.7734	,,	530/1786,1029/2414,1019/2404	124358420	846,11644	2033	4212	6245	SO:0001819	synonymous_variant	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3087C>G	10.37:g.124358420C>G			A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37																																																																																					0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		G	124358420	C	G	124358420	2	3	137	1	0	0	0	0	0	0	0	1	4579	871	31	4		4	DMBT1	10	124358420	Silent	SNP	C	TCGA-B0-4718-01A-01D-1361-10	7283214	124358420	11176327	35	8111											
CHID1	66005	hgsc.bcm.edu;ucsc.edu	37	11	902972	902972	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr11:902972T>C	ENST00000449825.1	-	3	607	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	CHID1_ENST00000323578.8_Missense_Mutation_p.Y84C|CHID1_ENST00000436108.2_Missense_Mutation_p.Y84C|CHID1_ENST00000429789.2_Missense_Mutation_p.Y84C|CHID1_ENST00000336845.5_Missense_Mutation_p.Y109C|CHID1_ENST00000454838.2_Missense_Mutation_p.Y109C|CHID1_ENST00000323541.7_Missense_Mutation_p.Y114C|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000528581.1_Missense_Mutation_p.Y109C	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	84					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TGGAGTGACATAGCCCAGTAC	0.607																																					Pancreas(117;992 2327 5172 41921)											0													102	80	88					11																	902972		2203	4299	6502	SO:0001583	missense	66005			AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.251A>G	11.37:g.902972T>C	ENSP00000391255:p.Tyr84Cys		B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.107600	0.56291	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859;ENST00000533056;ENST00000533059;ENST00000530939;ENST00000525225	T;T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08	4.64	4.64	0.57946	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80008	0.4545	M	0.91818	3.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.84800	0.0784	10	0.87932	D	0	-29.7576	13.3395	0.60537	0.0:0.0:0.0:1.0	.	145;114;84;109;84	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	C	114;84;109;84;84;109;109;84;84;84;84;84;84	ENSP00000324821:Y114C;ENSP00000391255:Y84C;ENSP00000398722:Y109C;ENSP00000325055:Y84C;ENSP00000416034:Y84C;ENSP00000435503:Y109C;ENSP00000338838:Y109C;ENSP00000388156:Y84C	ENSP00000324821:Y114C	Y	-	2	0	CHID1	892972	1.000000	0.71417	0.998000	0.56505	0.542000	0.35054	5.668000	0.68074	1.876000	0.54355	0.379000	0.24179	TAT		0.607	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		C	902972	T	C	902972	3	2	137	1	0	0	0	0	1	0	0	0	3347	1406	49	3	974	3	CHID1	11	902972	Missense_Mutation	SNP	T	TCGA-B0-4718-01A-01D-1361-10		902972	134103544	36	8112											
DNHD1	144132	hgsc.bcm.edu	37	11	6584780	6584780	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr11:6584780G>A	ENST00000527990.2	+	28	9838	c.9838G>A	c.(9838-9840)Gag>Aag	p.E3280K	DNHD1_ENST00000254579.6_Missense_Mutation_p.E3280K			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3280					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTTATGCACTGAGGATTTTTA	0.507																																																0													110	99	103					11																	6584780		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.9838G>A	11.37:g.6584780G>A	ENSP00000436180:p.Glu3280Lys		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694150	0.88735	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000526486;ENST00000526027	T;T	0.74002	-0.8;-0.8	5.21	5.21	0.72293	Dynein heavy chain, coiled coil stalk (1);	.	.	.	.	T	0.74366	0.3707	N	0.14661	0.345	0.38409	D	0.945884	D;D	0.89917	0.999;1.0	D;D	0.80764	0.989;0.994	T	0.71244	-0.4650	9	0.13108	T	0.6	.	17.5396	0.87843	0.0:0.0:1.0:0.0	.	192;3280	E9PNB2;Q96M86	.;DNHD1_HUMAN	K	3280;3280;192;192	ENSP00000254579:E3280K;ENSP00000436180:E3280K	ENSP00000254579:E3280K	E	+	1	0	DNHD1	6541356	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	2.862000	0.48388	2.438000	0.82558	0.467000	0.42956	GAG		0.507	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		A	6584780	G	A	6584780	3	1	137	1	0	0	0	0	1	0	0	0	4670	1291	45	2	9957	2	DNHD1	11	6584780	Missense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10	5681808	6584780	128421736	37	8113											
USH1C	10083	hgsc.bcm.edu	37	11	17523513	17523513	+	Nonsense_Mutation	SNP	A	A	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr11:17523513A>C	ENST00000318024.4	-	16	1407	c.1299T>G	c.(1297-1299)taT>taG	p.Y433*	USH1C_ENST00000527720.1_Nonsense_Mutation_p.Y402*|USH1C_ENST00000527020.1_Nonsense_Mutation_p.Y414*|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000005226.7_Nonsense_Mutation_p.Y733*	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	433					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.Y733*(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGCCTTCCTCATATTTCCGGA	0.527																																																1	Substitution - Nonsense(1)	large_intestine(1)											101	93	96					11																	17523513		2200	4293	6493	SO:0001587	stop_gained	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1299T>G	11.37:g.17523513A>C	ENSP00000317018:p.Tyr433*		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Nonsense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	39	7.480544	0.98309	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	.	.	.	5.37	-1.29	0.09288	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	9.4852	0.38924	0.5993:0.0:0.4007:0.0	.	.	.	.	X	433;402;414;733	.	ENSP00000005226:Y733X	Y	-	3	2	USH1C	17480089	0.927000	0.31430	0.996000	0.52242	0.998000	0.95712	-0.016000	0.12613	-0.235000	0.09767	0.528000	0.53228	TAT		0.527	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		C	17523513	A	C	17523513	4	2	137	1	0	0	0	0	0	1	0	0	17039	224	8	5	528	5	USH1C	11	17523513	Nonsense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10	10938733	17523513	117483003	38	8114											
FSHB	2488	hgsc.bcm.edu;ucsc.edu	37	11	30253599	30253599	+	Silent	SNP	C	C	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr11:30253599C>T	ENST00000417547.1	+	2	189	c.150C>T	c.(148-150)tgC>tgT	p.C50C	FSHB_ENST00000254122.3_Silent_p.C50C|FSHB_ENST00000533718.1_Silent_p.C50C	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	50					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						CTGGCTACTGCTACACCAGGG	0.423																																																0													76	69	71					11																	30253599		2202	4299	6501	SO:0001819	synonymous_variant	2488				CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"Endogenous ligands"	3964	protein-coding gene	gene with protein product	"follitropin, beta chain", "follicle-stimulating hormone beta subunit"	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.150C>T	11.37:g.30253599C>T			A2TF08|A5JVV3|Q14D61	Silent	SNP	ENST00000417547.1	37	CCDS7868.1																																																																																				0.423	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		T	30253599	C	T	30253599	2	4	137	1	0	0	0	0	0	0	0	1	6074	805	28	2		2	FSHB	11	30253599	Silent	SNP	C	TCGA-B0-4718-01A-01D-1361-10	12730086	30253599	104752917	39	8115											
VWCE	220001	hgsc.bcm.edu	37	11	61053852	61053852	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr11:61053852C>G	ENST00000335613.5	-	5	861	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	159	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACCCACCTTCTGTGTTCACA	0.572																																																0													125	112	117					11																	61053852		2203	4299	6502	SO:0001583	missense	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.475G>C	11.37:g.61053852C>G	ENSP00000334186:p.Glu159Gln		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060112	0.76074	.	.	ENSG00000167992	ENST00000335613	D	0.92099	-2.97	5.28	5.28	0.74379	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000051	D	0.89438	0.6715	N	0.02345	-0.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89024	0.3437	10	0.19147	T	0.46	.	18.5131	0.90925	0.0:1.0:0.0:0.0	.	159	Q96DN2	VWCE_HUMAN	Q	159	ENSP00000334186:E159Q	ENSP00000301770:E159Q	E	-	1	0	VWCE	60810428	0.998000	0.40836	0.955000	0.39395	0.547000	0.35210	5.059000	0.64306	2.465000	0.83290	0.655000	0.94253	GAA		0.572	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		G	61053852	C	G	61053852	3	3	137	1	0	0	0	0	1	0	0	0	17250	922	32	4	2456	4	VWCE	11	61053852	Missense_Mutation	SNP	C	TCGA-B0-4718-01A-01D-1361-10	30800253	61053852	73952664	40	8116											
CLEC1A	51267	hgsc.bcm.edu	37	12	10225998	10225998	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr12:10225998A>G	ENST00000315330.4	-	5	618	c.556T>C	c.(556-558)Tct>Cct	p.S186P	CLEC1A_ENST00000420265.2_Missense_Mutation_p.S94P|CLEC1A_ENST00000457018.2_Missense_Mutation_p.S153P	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	186	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TAGCTCTGAGACGCGGCAAAT	0.488																																																0													74	69	71					12																	10225998		2203	4300	6503	SO:0001583	missense	51267			AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.556T>C	12.37:g.10225998A>G	ENSP00000326407:p.Ser186Pro		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	A	2.673	-0.277063	0.05679	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.19669	2.13;2.13;2.13	5.4	4.5	0.54988	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.342835	0.25604	N	0.029522	T	0.11750	0.0286	N	0.16037	0.36	0.21697	N	0.999588	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.21999	-1.0229	10	0.26408	T	0.33	.	9.6637	0.39972	0.099:0.0:0.901:0.0	.	94;153;186	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	P	186;153;94	ENSP00000326407:S186P;ENSP00000415048:S153P;ENSP00000417010:S94P	ENSP00000326407:S186P	S	-	1	0	CLEC1A	10117265	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	2.038000	0.41184	1.382000	0.46385	-0.242000	0.12053	TCT		0.488	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		G	10225998	A	G	10225998	3	3	137	1	0	0	0	0	1	0	0	0	3507	275	10	3	294	3	CLEC1A	12	10225998	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10		10225998	123625897	41	8117											
BCL2L14	79370	hgsc.bcm.edu;ucsc.edu	37	12	12232325	12232325	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr12:12232325A>T	ENST00000308721.5	+	2	292	c.86A>T	c.(85-87)tAc>tTc	p.Y29F	BCL2L14_ENST00000266434.4_Missense_Mutation_p.Y29F|BCL2L14_ENST00000589718.1_Missense_Mutation_p.Y29F|BCL2L14_ENST00000396369.1_Missense_Mutation_p.Y29F|BCL2L14_ENST00000396367.1_Missense_Mutation_p.Y29F|BCL2L14_ENST00000586576.1_Missense_Mutation_p.Y62F	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	29					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		ATCCTCGCCTACTACACCAGA	0.488																																																0													136	120	125					12																	12232325		2203	4300	6503	SO:0001583	missense	79370			AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.86A>T	12.37:g.12232325A>T	ENSP00000309132:p.Tyr29Phe		A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.181943	0.00308	.	.	ENSG00000121380	ENST00000464885;ENST00000461264;ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	.	.	.	4.11	-1.58	0.08479	.	0.361702	0.26590	N	0.023539	T	0.06781	0.0173	N	0.00788	-1.185	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.003	T	0.40194	-0.9576	9	0.02654	T	1	-11.4484	9.151	0.36962	0.7094:0.0:0.0:0.2906	.	29;29	Q9BZR8-2;Q9BZR8	.;B2L14_HUMAN	F	29;32;29;29;29;29	.	ENSP00000266434:Y29F	Y	+	2	0	BCL2L14	12123592	0.924000	0.31332	0.113000	0.21522	0.029000	0.11900	0.314000	0.19432	-0.251000	0.09542	0.460000	0.39030	TAC		0.488	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		T	12232325	A	T	12232325	3	4	137	1	0	0	0	0	1	0	0	0	1372	391	14	5	88	5	BCL2L14	12	12232325	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10	2006327	12232325	121619570	42	8118											
PRPF40B	25766	hgsc.bcm.edu;ucsc.edu	37	12	50029153	50029153	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr12:50029153C>T	ENST00000380281.1	+	13	1170	c.1106C>T	c.(1105-1107)gCa>gTa	p.A369V	PRPF40B_ENST00000261897.1_Missense_Mutation_p.A363V|PRPF40B_ENST00000548825.2_Missense_Mutation_p.A391V|FMNL3_ENST00000550668.1_5'Flank			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	369	FF 2.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CACAGGCGGGCAGAACAGACC	0.557																																																0													113	120	117					12																	50029153		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1106C>T	12.37:g.50029153C>T	ENSP00000369634:p.Ala369Val		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	C	29.1	4.977474	0.92982	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.27402	1.67;1.68	5.0	5.0	0.66597	FF domain (1);	0.000000	0.64402	D	0.000012	T	0.40094	0.1103	L	0.60455	1.87	0.80722	D	1	P;P;P	0.40302	0.589;0.537;0.712	B;B;P	0.45794	0.298;0.316;0.493	T	0.08513	-1.0718	9	.	.	.	-9.8155	17.599	0.88021	0.0:1.0:0.0:0.0	.	369;363;369	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	V	363;369	ENSP00000261897:A363V;ENSP00000369634:A369V	.	A	+	2	0	PRPF40B	48315420	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.447000	0.80620	2.775000	0.95449	0.563000	0.77884	GCA		0.557	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		T	50029153	C	T	50029153	3	4	137	1	0	0	0	0	1	0	0	0	12577	710	25	2	1156	2	PRPF40B	12	50029153	Missense_Mutation	SNP	C	TCGA-B0-4718-01A-01D-1361-10	37796828	50029153	83822742	43	8119											
XRCC6BP1	91419	hgsc.bcm.edu;ucsc.edu	37	12	58347427	58347427	+	Silent	SNP	C	C	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr12:58347427C>T	ENST00000300145.3	+	5	617	c.492C>T	c.(490-492)gtC>gtT	p.V164V	XRCC6BP1_ENST00000546709.1_3'UTR	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	164					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GCTCACTTGTCAATGAAATAT	0.353																																																0													156	136	142					12																	58347427		1839	4109	5948	SO:0001819	synonymous_variant	91419			AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"Ku70 binding protein 3"					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.492C>T	12.37:g.58347427C>T			Q1RLM4|Q96E81	Silent	SNP	ENST00000300145.3	37	CCDS41802.1																																																																																				0.353	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276		T	58347427	C	T	58347427	2	4	137	1	0	0	0	0	0	0	0	1	17463	813	29	2		2	XRCC6BP1	12	58347427	Silent	SNP	C	TCGA-B0-4718-01A-01D-1361-10	8318274	58347427	75504468	44	8120											
E2F7	144455	hgsc.bcm.edu;ucsc.edu	37	12	77426862	77426862	+	Silent	SNP	A	A	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr12:77426862A>G	ENST00000322886.7	-	9	1585	c.1350T>C	c.(1348-1350)gcT>gcC	p.A450A	E2F7_ENST00000416496.2_Silent_p.A450A	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	450					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GTCTATAGACAGCTGCCAGGC	0.353																																																0													80	84	83					12																	77426862		2203	4300	6503	SO:0001819	synonymous_variant	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1350T>C	12.37:g.77426862A>G			A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	CCDS9016.1																																																																																				0.353	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		G	77426862	A	G	77426862	2	3	137	1	0	0	0	0	0	0	0	1	4874	175	7	3		3	E2F7	12	77426862	Silent	SNP	A	TCGA-B0-4718-01A-01D-1361-10	19079435	77426862	56425033	45	8121											
E2F7	144455	hgsc.bcm.edu;ucsc.edu	37	12	77427723	77427723	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr12:77427723T>C	ENST00000322886.7	-	8	1458	c.1223A>G	c.(1222-1224)cAt>cGt	p.H408R	E2F7_ENST00000416496.2_Missense_Mutation_p.H408R	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	408					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AAAAGAACCATGGCGAGCCAG	0.463																																																0													124	111	116					12																	77427723		2203	4300	6503	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1223A>G	12.37:g.77427723T>C	ENSP00000323246:p.His408Arg		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.737191	0.49045	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.22539	2.19;1.95;1.96	6.17	5.03	0.67393	.	0.089583	0.85682	N	0.000000	T	0.25158	0.0611	M	0.68952	2.095	0.41032	D	0.985163	B	0.14012	0.009	B	0.14023	0.01	T	0.03453	-1.1035	10	0.66056	D	0.02	-10.4684	11.5972	0.50981	0.0:0.0688:0.0:0.9312	.	408	Q96AV8	E2F7_HUMAN	R	408	ENSP00000323246:H408R;ENSP00000393639:H408R;ENSP00000448245:H408R	ENSP00000323246:H408R	H	-	2	0	E2F7	75951854	1.000000	0.71417	0.684000	0.30055	0.942000	0.58702	4.675000	0.61619	1.155000	0.42497	0.533000	0.62120	CAT		0.463	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		C	77427723	T	C	77427723	3	2	137	1	0	0	0	0	1	0	0	0	4874	1464	51	3	1536	3	E2F7	12	77427723	Missense_Mutation	SNP	T	TCGA-B0-4718-01A-01D-1361-10	861	77427723	56424172	46	8122											
ANAPC7	51434	hgsc.bcm.edu	37	12	110820691	110820691	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr12:110820691A>T	ENST00000455511.3	-	7	994	c.994T>A	c.(994-996)Ttc>Atc	p.F332I	ANAPC7_ENST00000450008.2_Missense_Mutation_p.F332I	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	332					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GAGATATTGAAAAGGCGGCAT	0.453																																																0													213	205	208					12																	110820691		2203	4300	6503	SO:0001583	missense	51434			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.994T>A	12.37:g.110820691A>T	ENSP00000394394:p.Phe332Ile		Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	A	11.75	1.730450	0.30684	.	.	ENSG00000196510	ENST00000455511;ENST00000450008;ENST00000471602;ENST00000548234	T;T	0.61742	0.08;0.75	5.89	5.89	0.94794	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	N	0.10874	0.06	0.58432	D	0.999999	D;B	0.57899	0.981;0.055	D;B	0.69142	0.962;0.008	T	0.50931	-0.8769	10	0.02654	T	1	-5.4396	16.3158	0.82923	1.0:0.0:0.0:0.0	.	332;332	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	I	332;332;25;34	ENSP00000394394:F332I;ENSP00000402314:F332I	ENSP00000402314:F332I	F	-	1	0	ANAPC7	109305074	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.930000	0.92872	2.254000	0.74563	0.533000	0.62120	TTC		0.453	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		T	110820691	A	T	110820691	3	4	137	1	0	0	0	0	1	0	0	0	606	14	1	5	829	5	ANAPC7	12	110820691	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10	33392968	110820691	23031204	47	8123											
GPR133	283383	hgsc.bcm.edu;ucsc.edu	37	12	131488769	131488769	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr12:131488769T>A	ENST00000261654.5	+	11	1742	c.1183T>A	c.(1183-1185)Tcc>Acc	p.S395T	GPR133_ENST00000376682.4_Missense_Mutation_p.S81T|GPR133_ENST00000535015.1_Missense_Mutation_p.S427T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	395					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GACCGTGAATTCCTCCCATTA	0.612																																																0													86	76	79					12																	131488769		2203	4300	6503	SO:0001583	missense	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1183T>A	12.37:g.131488769T>A	ENSP00000261654:p.Ser395Thr		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996916	0.35226	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.40476	1.05;1.05;1.03	4.95	-9.25	0.00666	.	0.940610	0.08950	N	0.870251	T	0.24851	0.0603	L	0.42245	1.32	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.21827	-1.0234	10	0.16420	T	0.52	.	8.0851	0.30767	0.2894:0.0:0.5396:0.1709	.	427;395	B7ZLF7;Q6QNK2	.;GP133_HUMAN	T	395;427;86;91;81	ENSP00000261654:S395T;ENSP00000444425:S427T;ENSP00000365872:S81T	ENSP00000261654:S395T	S	+	1	0	GPR133	130054722	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.586000	0.05787	-1.347000	0.02208	-0.678000	0.03780	TCC		0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		A	131488769	T	A	131488769	3	1	137	1	0	0	0	0	1	0	0	0	6645	1783	62	5	1225	5	GPR133	12	131488769	Missense_Mutation	SNP	T	TCGA-B0-4718-01A-01D-1361-10	20668078	131488769	2363126	48	8124											
EP400	57634	hgsc.bcm.edu	37	12	132512584	132512584	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr12:132512584A>G	ENST00000333577.4	+	28	5349	c.5240A>G	c.(5239-5241)aAa>aGa	p.K1747R	EP400_ENST00000389561.2_Missense_Mutation_p.K1711R|EP400_ENST00000389562.2_Missense_Mutation_p.K1710R|EP400_ENST00000332482.4_Missense_Mutation_p.K1674R|EP400_ENST00000330386.6_Missense_Mutation_p.K1630R			Q96L91	EP400_HUMAN	E1A binding protein p400	1747					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGACTCTTGAAAGAGCGCCTG	0.463																																																0													38	41	40					12																	132512584		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5240A>G	12.37:g.132512584A>G	ENSP00000333602:p.Lys1747Arg		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	A	14.10	2.435109	0.43224	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90900	-2.75;-2.74;-2.75;-2.75;-2.74	6.07	-3.59	0.04583	.	0.263584	0.43416	N	0.000574	T	0.81716	0.4881	L	0.31371	0.925	0.26132	N	0.980394	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.12156	0.007;0.007;0.007	T	0.64360	-0.6426	10	0.32370	T	0.25	.	12.6763	0.56895	0.5485:0.0:0.4515:0.0	.	1711;1630;1710	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	R	1747;1711;1710;1674;1630;1711;1630	ENSP00000333602:K1747R;ENSP00000374212:K1711R;ENSP00000374213:K1710R;ENSP00000331737:K1674R;ENSP00000330620:K1630R	ENSP00000330620:K1630R	K	+	2	0	EP400	131078537	1.000000	0.71417	0.022000	0.16811	0.925000	0.55904	1.975000	0.40569	-0.936000	0.03723	0.533000	0.62120	AAA		0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		G	132512584	A	G	132512584	3	3	137	1	0	0	0	0	1	0	0	0	5151	14	1	3	5231	3	EP400	12	132512584	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10	1023815	132512584	1339311	49	8125											
PARP4	143	hgsc.bcm.edu;ucsc.edu	37	13	25074499	25074499	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr13:25074499C>T	ENST00000381989.3	-	4	461	c.356G>A	c.(355-357)tGc>tAc	p.C119Y		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	119					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ACTGTCCGGGCATAGACCTTC	0.398																																																0													115	110	112					13																	25074499		2203	4300	6503	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.356G>A	13.37:g.25074499C>T	ENSP00000371419:p.Cys119Tyr		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.290430	0.00248	.	.	ENSG00000102699	ENST00000381989	T	0.41065	1.01	3.38	0.491	0.16867	.	2.572970	0.01284	N	0.009827	T	0.26376	0.0644	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27606	-1.0069	10	0.02654	T	1	0.0154	11.6264	0.51147	0.0:0.6475:0.3525:0.0	.	119	Q9UKK3	PARP4_HUMAN	Y	119	ENSP00000371419:C119Y	ENSP00000371419:C119Y	C	-	2	0	PARP4	23972499	0.076000	0.21285	0.005000	0.12908	0.002000	0.02628	0.357000	0.20199	0.055000	0.16094	-0.385000	0.06624	TGC		0.398	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		T	25074499	C	T	25074499	3	4	137	1	0	0	0	0	1	0	0	0	11465	710	25	2	4942	2	PARP4	13	25074499	Missense_Mutation	SNP	C	TCGA-B0-4718-01A-01D-1361-10		25074499	90095379	50	8126											
RNF17	56163	hgsc.bcm.edu;ucsc.edu	37	13	25367463	25367463	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr13:25367463A>T	ENST00000255324.5	+	10	1271	c.1219A>T	c.(1219-1221)Att>Ttt	p.I407F	RNF17_ENST00000381921.1_Missense_Mutation_p.I407F|RNF17_ENST00000255325.6_Missense_Mutation_p.I407F|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	407					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATTGAAGAAATTATTGAAGA	0.393																																																0													121	119	120					13																	25367463		2203	4300	6503	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1219A>T	13.37:g.25367463A>T	ENSP00000255324:p.Ile407Phe		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924933	0.73213	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.28255	2.74;2.75;1.62	5.29	4.1	0.47936	.	0.466245	0.19463	N	0.113658	T	0.47581	0.1453	M	0.64997	1.995	0.35590	D	0.807023	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.96;0.998	T	0.53114	-0.8484	10	0.25106	T	0.35	.	9.1002	0.36664	0.9158:0.0:0.0842:0.0	.	407;407;407	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	F	407;407;266;408;407	ENSP00000255324:I407F;ENSP00000371346:I407F;ENSP00000255325:I408F	ENSP00000255324:I407F	I	+	1	0	RNF17	24265463	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.717000	0.37991	1.025000	0.39708	0.528000	0.53228	ATT		0.393	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		T	25367463	A	T	25367463	3	4	137	1	0	0	0	0	1	0	0	0	13467	101	4	5	1257	5	RNF17	13	25367463	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10	292964	25367463	89802415	51	8127											
TMEM62	80021	hgsc.bcm.edu;ucsc.edu	37	15	43476766	43476766	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr15:43476766A>C	ENST00000260403.2	+	14	2193	c.1914A>C	c.(1912-1914)aaA>aaC	p.K638N	CCNDBP1_ENST00000356633.5_5'Flank|EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000300213.4_5'Flank|RP11-473C18.3_ENST00000565685.1_RNA	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	638						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TGCAGTTAAAAAGCCACCTGA	0.552																																																0													61	62	62					15																	43476766		2203	4299	6502	SO:0001583	missense	80021			BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1914A>C	15.37:g.43476766A>C	ENSP00000260403:p.Lys638Asn		Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820400	0.50633	.	.	ENSG00000137842	ENST00000260403	.	.	.	5.4	5.4	0.78164	.	0.329807	0.33327	N	0.005032	T	0.62146	0.2404	N	0.22421	0.69	0.44956	D	0.997974	D	0.76494	0.999	D	0.63283	0.913	T	0.67039	-0.5771	9	0.72032	D	0.01	-11.5502	15.5811	0.76439	1.0:0.0:0.0:0.0	.	638	Q0P6H9	TMM62_HUMAN	N	638	.	ENSP00000260403:K638N	K	+	3	2	TMEM62	41264058	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	4.288000	0.59007	2.270000	0.75569	0.459000	0.35465	AAA		0.552	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		C	43476766	A	C	43476766	3	2	137	1	0	0	0	0	1	0	0	0	16194	11	1	5	1968	5	TMEM62	15	43476766	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10		43476766	59054626	52	8128											
COG7	91949	hgsc.bcm.edu;ucsc.edu	37	16	23417539	23417539	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr16:23417539G>A	ENST00000307149.5	-	12	1705	c.1520C>T	c.(1519-1521)cCc>cTc	p.P507L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	507					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAGGCTCCGGGGGCTGCAGGA	0.453																																																0													70	76	74					16																	23417539		2197	4300	6497	SO:0001583	missense	91949			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1520C>T	16.37:g.23417539G>A	ENSP00000305442:p.Pro507Leu		Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611805	0.87258	.	.	ENSG00000168434	ENST00000307149	T	0.47177	0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.50406	-0.8832	10	0.26408	T	0.33	-26.8027	18.8096	0.92053	0.0:0.0:1.0:0.0	.	507	P83436	COG7_HUMAN	L	507	ENSP00000305442:P507L	ENSP00000305442:P507L	P	-	2	0	COG7	23325040	1.000000	0.71417	0.998000	0.56505	0.650000	0.38633	9.869000	0.99810	2.679000	0.91253	0.650000	0.86243	CCC		0.453	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			A	23417539	G	A	23417539	3	1	137	1	0	0	0	0	1	0	0	0	3665	1232	43	2	816	2	COG7	16	23417539	Missense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10		23417539	66937214	53	8129											
ARHGAP17	55114	hgsc.bcm.edu	37	16	24960732	24960732	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr16:24960732T>A	ENST00000289968.6	-	13	1189	c.1120A>T	c.(1120-1122)Aac>Tac	p.N374Y	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.N374Y|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	374	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TACCTAAAGTTAACAAAATTT	0.363																																																0													110	98	102					16																	24960732		2196	4300	6496	SO:0001583	missense	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1120A>T	16.37:g.24960732T>A	ENSP00000289968:p.Asn374Tyr		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686981	0.88639	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.18338	2.22;2.22	6.06	6.06	0.98353	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.45867	D	0.000328	T	0.50086	0.1595	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.59236	-0.7492	10	0.72032	D	0.01	.	14.5614	0.68140	0.0:0.0:0.0:1.0	.	374;374;374	C9IZD3;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	Y	374	ENSP00000289968:N374Y;ENSP00000303130:N374Y	ENSP00000289968:N374Y	N	-	1	0	ARHGAP17	24868233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.111000	0.77077	2.324000	0.78689	0.533000	0.62120	AAC		0.363	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		A	24960732	T	A	24960732	3	1	137	1	0	0	0	0	1	0	0	0	867	1754	61	5	1557	5	ARHGAP17	16	24960732	Missense_Mutation	SNP	T	TCGA-B0-4718-01A-01D-1361-10	1543193	24960732	65394021	54	8130											
NFAT5	10725	hgsc.bcm.edu	37	16	69727924	69727924	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr16:69727924T>C	ENST00000354436.2	+	12	4460	c.4142T>C	c.(4141-4143)aTg>aCg	p.M1381T	NFAT5_ENST00000567239.1_Missense_Mutation_p.M1398T|NFAT5_ENST00000393742.2_Missense_Mutation_p.M1305T|NFAT5_ENST00000432919.1_Missense_Mutation_p.M1399T|NFAT5_ENST00000349945.1_Missense_Mutation_p.M1305T|NFAT5_ENST00000566899.1_Missense_Mutation_p.M1305T	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1381					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						CCAGCATCCATGTCTGCCTTG	0.463																																																0													141	118	126					16																	69727924		2198	4300	6498	SO:0001583	missense	10725			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.4142T>C	16.37:g.69727924T>C	ENSP00000346420:p.Met1381Thr		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327730	0.41197	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.54866	0.55;0.56;0.55;0.56	5.87	5.87	0.94306	.	0.036775	0.85682	D	0.000000	T	0.51534	0.1680	L	0.56769	1.78	0.53005	D	0.999968	D;P;D	0.59357	0.985;0.956;0.985	B;B;B	0.40940	0.344;0.344;0.344	T	0.60229	-0.7304	10	0.87932	D	0	-2.7108	16.2674	0.82597	0.0:0.0:0.0:1.0	.	1398;1381;1399	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	T	1399;1398;1305;1381;1305	ENSP00000396538:M1399T;ENSP00000338806:M1305T;ENSP00000346420:M1381T;ENSP00000377343:M1305T	ENSP00000338806:M1305T	M	+	2	0	NFAT5	68285425	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.212000	0.72188	2.242000	0.73789	0.533000	0.62120	ATG		0.463	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		C	69727924	T	C	69727924	3	2	137	1	0	0	0	0	1	0	0	0	10362	1464	51	3	4246	3	NFAT5	16	69727924	Missense_Mutation	SNP	T	TCGA-B0-4718-01A-01D-1361-10	44767192	69727924	20626829	55	8131											
RHBDL3	162494	hgsc.bcm.edu	37	17	30621399	30621399	+	Silent	SNP	T	T	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr17:30621399T>G	ENST00000269051.4	+	5	620	c.606T>G	c.(604-606)gtT>gtG	p.V202V	RHBDL3_ENST00000536287.1_Silent_p.V104V|RHBDL3_ENST00000538145.1_Silent_p.V194V	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	202						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				ACTCCCTGGTTTACCACCCAC	0.483																																																0													173	141	151					17																	30621399		2203	4300	6503	SO:0001819	synonymous_variant	162494			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.606T>G	17.37:g.30621399T>G			A6NMH1|Q495Y4|Q495Y5|Q495Y6	Silent	SNP	ENST00000269051.4	37	CCDS32613.1																																																																																				0.483	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		G	30621399	T	G	30621399	2	3	137	1	0	0	0	0	0	0	0	1	13329	1828	64	5		5	RHBDL3	17	30621399	Silent	SNP	T	TCGA-B0-4718-01A-01D-1361-10		30621399	50573811	56	8132											
MED24	9862	hgsc.bcm.edu;ucsc.edu	37	17	38176135	38176135	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr17:38176135G>T	ENST00000394128.2	-	25	2837	c.2756C>A	c.(2755-2757)cCc>cAc	p.P919H	MED24_ENST00000394126.1_Missense_Mutation_p.P944H|MED24_ENST00000501516.3_Missense_Mutation_p.P938H|MED24_ENST00000394127.2_Missense_Mutation_p.P906H|MED24_ENST00000356271.3_Missense_Mutation_p.P906H	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	919					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CTGGGTGTGGGGGCCAGCGGT	0.627																																																0													33	30	31					17																	38176135		2195	4296	6491	SO:0001583	missense	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2756C>A	17.37:g.38176135G>T	ENSP00000377686:p.Pro919His		A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230967	0.39399	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000394127;ENST00000536318;ENST00000431269	T;T	0.55760	0.5;0.5	5.05	5.05	0.67936	Mediator complex, subunit Med24, N-terminal (1);	0.112431	0.64402	D	0.000006	T	0.67325	0.2881	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.99;0.995;0.982;0.986;0.99;0.999	P;D;P;P;P;P	0.64237	0.73;0.923;0.73;0.823;0.73;0.905	T	0.68542	-0.5381	10	0.56958	D	0.05	-25.5742	18.2135	0.89878	0.0:0.0:1.0:0.0	.	829;829;906;919;861;496	F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1;B4E0S3	.;.;.;MED24_HUMAN;.;.	H	919;919;919;906;861;829	ENSP00000377686:P919H;ENSP00000377685:P906H	ENSP00000348610:P919H	P	-	2	0	MED24	35429661	1.000000	0.71417	0.998000	0.56505	0.382000	0.30200	9.625000	0.98406	2.621000	0.88768	0.650000	0.86243	CCC		0.627	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		T	38176135	G	T	38176135	3	4	137	1	0	0	0	0	1	0	0	0	9444	1232	43	4	221	4	MED24	17	38176135	Missense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10	7554736	38176135	43019075	57	8133											
SGCA	6442	hgsc.bcm.edu	37	17	48245918	48245918	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr17:48245918A>G	ENST00000262018.3	+	5	605	c.569A>G	c.(568-570)gAg>gGg	p.E190G	SGCA_ENST00000344627.6_Missense_Mutation_p.E190G|SGCA_ENST00000543315.1_Missense_Mutation_p.E190G|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000451235.2_Missense_Mutation_p.E88G|SGCA_ENST00000513942.1_3'UTR	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	190					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTTCCCATTGAGGGCCGAAAA	0.592																																																0													22	23	23					17																	48245918		2197	4294	6491	SO:0001583	missense	6442			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"50kD DAG", "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)", "adhalin (limb girdle muscular dystrophy 2D)"	600119	"sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.569A>G	17.37:g.48245918A>G	ENSP00000262018:p.Glu190Gly		A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	CCDS32679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.01|12.01	1.810263|1.810263	0.32053|0.32053	.|.	.|.	ENSG00000108823|ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000543315;ENST00000451235;ENST00000511303|ENST00000504073	D;D;D;D;D|.	0.97831|.	-4.56;-4.56;-4.56;-4.56;-4.56|.	4.58|4.58	3.5|3.5	0.40072|0.40072	.|.	0.313613|.	0.28425|.	N|.	0.015385|.	T|.	0.39332|.	0.1074|.	L|L	0.33485|0.33485	1.01|1.01	0.33000|0.33000	D|D	0.526087|0.526087	B;B;B|.	0.23442|.	0.016;0.085;0.004|.	B;B;B|.	0.22753|.	0.03;0.041;0.015|.	T|.	0.48127|.	-0.9062|.	10|.	0.26408|.	T|.	0.33|.	-6.7071|-6.7071	7.7404|7.7404	0.28837|0.28837	0.9:0.0:0.1:0.0|0.9:0.0:0.1:0.0	.|.	88;190;190|.	B7Z1L1;Q16586-2;Q16586|.	.;.;SGCA_HUMAN|.	G|W	190;190;190;88;97|12	ENSP00000345522:E190G;ENSP00000262018:E190G;ENSP00000444539:E190G;ENSP00000390371:E88G;ENSP00000426104:E97G|.	ENSP00000262018:E190G|.	E|X	+|+	2|3	0|0	SGCA|SGCA	45600917|45600917	0.958000|0.958000	0.32768|0.32768	0.956000|0.956000	0.39512|0.39512	0.824000|0.824000	0.46624|0.46624	2.159000|2.159000	0.42339|0.42339	0.721000|0.721000	0.32231|0.32231	0.379000|0.379000	0.24179|0.24179	GAG|TGA		0.592	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		G	48245918	A	G	48245918	3	3	137	1	0	0	0	0	1	0	0	0	14205	304	11	3	587	3	SGCA	17	48245918	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10	10069783	48245918	32949292	58	8134											
DHX40	79665	hgsc.bcm.edu	37	17	57656854	57656854	+	Silent	SNP	C	C	T	rs375795771		TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr17:57656854C>T	ENST00000251241.4	+	9	1242	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	DHX40_ENST00000451169.2_Silent_p.F317F|DHX40_ENST00000425628.3_Silent_p.F288F	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	365	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGGTGGCTTCGTGAAGCAGT	0.358																																																0													38	57	53					17																	57656854		984	4080	5064	SO:0001819	synonymous_variant	79665			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"DEAH-boxes"	18018	protein-coding gene	gene with protein product		607570	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1095C>T	17.37:g.57656854C>T			B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Silent	SNP	ENST00000251241.4	37	CCDS11617.1																																																																																				0.358	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		T	57656854	C	T	57656854	2	4	137	1	0	0	0	0	0	0	0	1	4514	883	31	1		1	DHX40	17	57656854	Silent	SNP	C	TCGA-B0-4718-01A-01D-1361-10	9410936	57656854	23538356	59	8135											
FTSJ3	11325	hgsc.bcm.edu	37	17	61899416	61899416	+	IGR	SNP	G	G	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr17:61899416G>C	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.S468C	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ACTATCCAGAGATGTGTCATC	0.522																																																0													130	106	114					17																	61899416		2203	4300	6503	SO:0001628	intergenic_variant	117246			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899416G>C			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996002	0.54147	.	.	ENSG00000108592	ENST00000427159	T	0.32515	1.45	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.49029	0.1533	L	0.46157	1.445	0.53688	D	0.999973	D	0.89917	1.0	D	0.83275	0.996	T	0.32079	-0.9920	10	0.42905	T	0.14	-15.436	16.3053	0.82846	0.0:0.0:1.0:0.0	.	468	Q8IY81	RRMJ3_HUMAN	C	468	ENSP00000396673:S468C	ENSP00000396673:S468C	S	-	2	0	FTSJ3	59253148	1.000000	0.71417	0.561000	0.28357	0.004000	0.04260	6.126000	0.71635	2.716000	0.92895	0.650000	0.86243	TCT		0.522	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		C	61899416	G	C	61899416	1	2	137	0	1	0	0	0	0	0	0	0	6091	942	33	4		4	FTSJ3	17	61899416	IGR	SNP	G	TCGA-B0-4718-01A-01D-1361-10	4242562	61899416	19295794	60	8136											
CHMP1B	57132	hgsc.bcm.edu;ucsc.edu	37	18	11851688	11851688	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr18:11851688A>C	ENST00000526991.2	+	1	294	c.178A>C	c.(178-180)Aac>Cac	p.N60H	GNAL_ENST00000535121.1_Intron|GNAL_ENST00000334049.6_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000269162.5_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	60					cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						CCGCCAGAAGAACCAGGCGGT	0.537																																																0													75	81	79					18																	11851688		2122	4246	6368	SO:0001583	missense	57132			AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"Charged multivesicular body proteins"	24287	protein-coding gene	gene with protein product		606486	"chromatin modifying protein 1B"			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.178A>C	18.37:g.11851688A>C	ENSP00000432279:p.Asn60His		Q96E89|Q9HD41	Missense_Mutation	SNP	ENST00000526991.2	37	CCDS54180.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048327	0.75846	.	.	ENSG00000255112	ENST00000526991	T	0.72505	-0.66	5.54	5.54	0.83059	.	.	.	.	.	T	0.79370	0.4434	M	0.87682	2.9	0.80722	D	1	B	0.30526	0.283	B	0.40565	0.333	T	0.80348	-0.1420	9	0.54805	T	0.06	.	13.9287	0.63981	1.0:0.0:0.0:0.0	.	60	Q7LBR1	CHM1B_HUMAN	H	60	ENSP00000432279:N60H	ENSP00000432279:N60H	N	+	1	0	CHMP1B	11841688	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	2.235000	0.73313	0.533000	0.62120	AAC		0.537	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2	NM_020412		C	11851688	A	C	11851688	3	2	137	1	0	0	0	0	1	0	0	0	3355	246	9	5	180	5	CHMP1B	18	11851688	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10		11851688	66225560	61	8137											
SERPINB13	5275	hgsc.bcm.edu	37	18	61264230	61264230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr18:61264230G>A	ENST00000344731.5	+	8	911	c.809G>A	c.(808-810)tGg>tAg	p.W270*	SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.W218*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	270					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTGGTAGAGTGGACTAGTCCA	0.408																																																0													80	85	83					18																	61264230		2203	4300	6503	SO:0001587	stop_gained	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.809G>A	18.37:g.61264230G>A	ENSP00000341584:p.Trp270*		A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Nonsense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444662	0.96187	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	.	.	.	5.43	4.53	0.55603	.	0.000000	0.46442	D	0.000281	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7012	0.69157	0.0:0.0:0.8549:0.1451	.	.	.	.	X	218;188;270	.	ENSP00000269489:W218X	W	+	2	0	SERPINB13	59415210	1.000000	0.71417	0.994000	0.49952	0.733000	0.41908	5.304000	0.65744	2.563000	0.86464	0.650000	0.86243	TGG		0.408	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		A	61264230	G	A	61264230	4	1	137	1	0	0	0	0	0	1	0	0	14106	1357	47	2	835	2	SERPINB13	18	61264230	Nonsense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10	49412542	61264230	16813018	62	8138											
ADNP2	22850	hgsc.bcm.edu;ucsc.edu	37	18	77894041	77894041	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr18:77894041T>G	ENST00000262198.4	+	4	1200	c.745T>G	c.(745-747)Tct>Gct	p.S249A		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	249					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TAAGCTTAGATCTGTGATTTC	0.433																																																0													75	76	75					18																	77894041		2203	4300	6503	SO:0001583	missense	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.745T>G	18.37:g.77894041T>G	ENSP00000262198:p.Ser249Ala		A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740047	0.30865	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.41	5.41	0.78517	.	0.094910	0.46145	D	0.000303	T	0.19327	0.0464	N	0.19112	0.55	0.28984	N	0.888481	P	0.40970	0.734	B	0.35470	0.203	T	0.10497	-1.0627	8	.	.	.	-29.2533	6.876	0.24147	0.0:0.0751:0.1524:0.7725	.	249	Q6IQ32	ADNP2_HUMAN	A	249	.	.	S	+	1	0	ADNP2	75995032	0.969000	0.33509	0.931000	0.37212	0.999000	0.98932	1.504000	0.35726	2.281000	0.76405	0.533000	0.62120	TCT		0.433	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		G	77894041	T	G	77894041	3	3	137	1	0	0	0	0	1	0	0	0	324	1435	50	5	755	5	ADNP2	18	77894041	Missense_Mutation	SNP	T	TCGA-B0-4718-01A-01D-1361-10	16629811	77894041	183207	63	8139											
DIRAS1	148252	hgsc.bcm.edu	37	19	2717570	2717570	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr19:2717570C>A	ENST00000323469.4	-	2	418	c.235G>T	c.(235-237)Ggc>Tgc	p.G79C	DIRAS1_ENST00000585334.1_Missense_Mutation_p.G79C	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	79					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G79C(1)		kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCGTGGCCCTTGGAGATG	0.622																																																1	Substitution - Missense(1)	kidney(1)											70	59	62					19																	2717570		2201	4299	6500	SO:0001583	missense	148252			BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.235G>T	19.37:g.2717570C>A	ENSP00000325836:p.Gly79Cys			Missense_Mutation	SNP	ENST00000323469.4	37	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462126	0.63513	.	.	ENSG00000176490	ENST00000323469	T	0.69561	-0.41	4.07	4.07	0.47477	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78841	-0.2045	10	0.87932	D	0	.	13.7485	0.62890	0.0:1.0:0.0:0.0	.	79	O95057	DIRA1_HUMAN	C	79	ENSP00000325836:G79C	ENSP00000325836:G79C	G	-	1	0	DIRAS1	2668570	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	7.539000	0.82063	1.813000	0.52934	0.549000	0.68633	GGC		0.622	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			A	2717570	C	A	2717570	3	1	137	1	0	0	0	0	1	0	0	0	4532	623	22	4	365	4	DIRAS1	19	2717570	Missense_Mutation	SNP	C	TCGA-B0-4718-01A-01D-1361-10		2717570	56411413	64	8140											
SLC25A23	79085	hgsc.bcm.edu	37	19	6454351	6454351	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr19:6454351A>G	ENST00000301454.4	-	6	884	c.778T>C	c.(778-780)Ttc>Ctc	p.F260L	SLC25A23_ENST00000334510.5_Missense_Mutation_p.F260L|SLC25A23_ENST00000414491.2_Missense_Mutation_p.F77L	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	260					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TAGGCCATGAACTTGATAGCT	0.542																																																0													132	129	130					19																	6454351		2203	4300	6503	SO:0001583	missense	79085			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.778T>C	19.37:g.6454351A>G	ENSP00000301454:p.Phe260Leu		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682624	0.88542	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000414491;ENST00000334510	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.79	5.79	0.91817	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91385	0.7282	M	0.84511	2.7	0.80722	D	1	D;D	0.60575	0.988;0.975	D;P	0.67382	0.951;0.883	D	0.92665	0.6145	10	0.87932	D	0	-34.024	15.1042	0.72306	1.0:0.0:0.0:0.0	.	77;260	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	L	307;260;77;260	ENSP00000264088:F307L;ENSP00000301454:F260L;ENSP00000408814:F77L;ENSP00000334537:F260L	ENSP00000264088:F307L	F	-	1	0	SLC25A23	6405351	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.898000	0.92538	2.217000	0.71921	0.533000	0.62120	TTC		0.542	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		G	6454351	A	G	6454351	3	3	137	1	0	0	0	0	1	0	0	0	14492	43	2	3	648	3	SLC25A23	19	6454351	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10	3736781	6454351	52674632	65	8141											
PRX	57716	hgsc.bcm.edu	37	19	40902613	40902613	+	Missense_Mutation	SNP	G	G	A	rs150582069		TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr19:40902613G>A	ENST00000324001.7	-	7	1916	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	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)		p.E545_P549delEVQLP(1)|p.P549Q(1)		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)			TGACACTTTCGGCAGCTGTAC	0.577													g|||	1	0.000199681	0.0	0.0	5008	,	,		16952	0.001		0.0	False		,,,				2504	0.0															2	Substitution - Missense(1)|Deletion - In frame(1)	breast(1)|kidney(1)											88	101	96					19																	40902613		2202	4297	6499	SO:0001583	missense	57716			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.1646C>T	19.37:g.40902613G>A	ENSP00000326018:p.Pro549Leu		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	g	4.883	0.164188	0.09287	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.03580	3.88	4.14	3.11	0.35812	.	.	.	.	.	T	0.05502	0.0145	M	0.77820	2.39	0.09310	N	0.999996	P	0.40332	0.713	B	0.30401	0.115	T	0.29640	-1.0005	9	0.66056	D	0.02	-6.8118	7.829	0.29332	0.1975:0.0:0.8025:0.0	.	549	Q9BXM0	PRAX_HUMAN	L	549	ENSP00000326018:P549L	ENSP00000326018:P549L	P	-	2	0	PRX	45594453	0.005000	0.15991	0.169000	0.22859	0.015000	0.08874	0.659000	0.24994	0.962000	0.38057	-0.185000	0.12909	CCG		0.577	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		A	40902613	G	A	40902613	3	1	137	1	0	0	0	0	1	0	0	0	12647	1116	39	1	2743	1	PRX	19	40902613	Missense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10	34448262	40902613	18226370	66	8142											
RALGAPA2	57186	hgsc.bcm.edu;ucsc.edu	37	20	20486076	20486076	+	Silent	SNP	A	A	G			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr20:20486076A>G	ENST00000202677.7	-	34	5038	c.5031T>C	c.(5029-5031)ttT>ttC	p.F1677F		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1677	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTCCAGCAACAAAGTCTTCAT	0.393																																																0													74	70	71					20																	20486076		1940	4180	6120	SO:0001819	synonymous_variant	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5031T>C	20.37:g.20486076A>G			Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	A	8.080	0.772267	0.16051	.	.	ENSG00000188559	ENST00000430436;ENST00000427175	.	.	.	5.97	2.43	0.29744	.	.	.	.	.	T	0.58935	0.2157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51132	-0.8744	4	.	.	.	.	10.0558	0.42244	0.8075:0.0:0.1925:0.0	.	.	.	.	S	1494;88	.	.	L	-	2	0	RALGAPA2	20434076	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.145000	0.50623	0.137000	0.18759	-0.256000	0.11100	TTG		0.393	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		G	20486076	A	G	20486076	2	3	137	1	0	0	0	0	0	0	0	1	13020	127	5	3		3	RALGAPA2	20	20486076	Silent	SNP	A	TCGA-B0-4718-01A-01D-1361-10		20486076	42539444	67	8143											
CHRNA4	1137	hgsc.bcm.edu	37	20	61981763	61981763	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr20:61981763A>T	ENST00000370263.4	-	5	1221	c.1000T>A	c.(1000-1002)Tcg>Acg	p.S334T	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	334					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GTGCGTGGCGAGCGGTGGTGC	0.607																																																0													182	127	146					20																	61981763		2203	4300	6503	SO:0001583	missense	1137				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1000T>A	20.37:g.61981763A>T	ENSP00000359285:p.Ser334Thr		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.909198	0.52439	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.71461	-0.57	5.15	4.04	0.47022	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.70193	0.3196	L	0.39514	1.22	0.58432	D	0.999999	P;B	0.41450	0.75;0.029	P;B	0.53401	0.725;0.121	T	0.62548	-0.6831	10	0.13470	T	0.59	.	12.0761	0.53644	0.8556:0.1443:0.0:0.0	.	263;334	Q4VAQ5;P43681	.;ACHA4_HUMAN	T	240;334;263	ENSP00000359285:S334T	ENSP00000359280:S240T	S	-	1	0	CHRNA4	61452207	1.000000	0.71417	0.913000	0.36048	0.368000	0.29767	9.042000	0.93793	0.777000	0.33496	-0.313000	0.08912	TCG		0.607	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			T	61981763	A	T	61981763	3	4	137	1	0	0	0	0	1	0	0	0	3387	304	11	5	891	5	CHRNA4	20	61981763	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10	41495687	61981763	1043757	68	8144											
POTED	317754	hgsc.bcm.edu	37	21	15013735	15013735	+	Missense_Mutation	SNP	A	A	G	rs78643169	byFrequency	TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr21:15013735A>G	ENST00000299443.5	+	11	1655	c.1603A>G	c.(1603-1605)Atg>Gtg	p.M535V		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	535				M -> V (in Ref. 1; AAO23914). {ECO:0000305}.		plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGAAATTGCCATGCTAAGACT	0.353																																																0													36	52	48					21																	15013735		1440	3652	5092	SO:0001583	missense	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1603A>G	21.37:g.15013735A>G	ENSP00000299443:p.Met535Val		C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	a	4.658	0.122353	0.08931	.	.	ENSG00000166351	ENST00000299443	T	0.14391	2.51	2.1	2.1	0.27182	.	.	.	.	.	T	0.08447	0.0210	L	0.42581	1.335	0.09310	N	0.999995	B	0.21225	0.053	B	0.12156	0.007	T	0.42292	-0.9460	9	0.05620	T	0.96	.	3.8841	0.09091	0.8091:0.0:0.1909:0.0	.	535	Q86YR6	POTED_HUMAN	V	535	ENSP00000299443:M535V	ENSP00000299443:M535V	M	+	1	0	POTED	13935606	0.045000	0.20229	0.309000	0.25155	0.004000	0.04260	1.396000	0.34531	0.975000	0.38392	0.352000	0.21897	ATG		0.353	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		G	15013735	A	G	15013735	3	3	137	1	0	0	0	0	1	0	0	0	12265	217	8	3	1645	3	POTED	21	15013735	Missense_Mutation	SNP	A	TCGA-B0-4718-01A-01D-1361-10		15013735	33116160	69	8145											
ARVCF	421	hgsc.bcm.edu;ucsc.edu	37	22	19969473	19969473	+	Missense_Mutation	SNP	G	G	C	rs372018220		TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr22:19969473G>C	ENST00000263207.3	-	4	643	c.352C>G	c.(352-354)Cgg>Ggg	p.R118G	ARVCF_ENST00000401994.1_Missense_Mutation_p.R55G|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406259.1_Missense_Mutation_p.R118G|ARVCF_ENST00000406522.1_Missense_Mutation_p.R55G|ARVCF_ENST00000344269.3_Missense_Mutation_p.R55G	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	118					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCGGTGCGCCGGGTTGTGCCA	0.632																																																0													99	75	83					22																	19969473		2203	4299	6502	SO:0001583	missense	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.352C>G	22.37:g.19969473G>C	ENSP00000263207:p.Arg118Gly		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763701	0.49574	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	3.45	3.45	0.39498	.	.	.	.	.	T	0.48642	0.1511	M	0.66939	2.045	0.54753	D	0.999988	D	0.69078	0.997	D	0.76071	0.987	T	0.42932	-0.9422	8	.	.	.	-13.4396	9.1927	0.37209	0.0:0.0:0.6131:0.3869	.	118	O00192	ARVC_HUMAN	G	118;55;55;55;118	ENSP00000263207:R118G;ENSP00000342042:R55G;ENSP00000384341:R55G;ENSP00000384732:R55G;ENSP00000385444:R118G	.	R	-	1	2	ARVCF	18349473	0.623000	0.27094	0.952000	0.39060	0.591000	0.36615	0.874000	0.28065	2.217000	0.71921	0.462000	0.41574	CGG		0.632	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		C	19969473	G	C	19969473	3	2	137	1	0	0	0	0	1	0	0	0	1003	1115	39	4	2600	4	ARVCF	22	19969473	Missense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10		19969473	31335093	70	8146											
SRRD	402055	hgsc.bcm.edu;ucsc.edu	37	22	26884408	26884408	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chr22:26884408T>C	ENST00000215917.7	+	4	577	c.563T>C	c.(562-564)aTt>aCt	p.I188T		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	188					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CAACTTGAAATTGAAGTCCTT	0.438																																																0													183	181	182					22																	26884408		1912	4127	6039	SO:0001583	missense	402055			BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"hepatocellular carcinoma complicating hemochromatosis"	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.563T>C	22.37:g.26884408T>C	ENSP00000215917:p.Ile188Thr		Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	T	9.951	1.220114	0.22373	.	.	ENSG00000100104	ENST00000215917	T	0.47177	0.85	5.46	-0.111	0.13576	Sensitivity To Red Light Reduced-like, SRR1 (1);	1.047530	0.07355	N	0.882984	T	0.39655	0.1086	L	0.46157	1.445	0.09310	N	1	B;B	0.22211	0.066;0.066	B;B	0.22880	0.042;0.042	T	0.31336	-0.9947	10	0.22706	T	0.39	-4.6276	9.5964	0.39576	0.0:0.3626:0.0:0.6374	.	188;181	Q9UH36;B4DF37	SRR1L_HUMAN;.	T	188	ENSP00000215917:I188T	ENSP00000215917:I188T	I	+	2	0	SRRD	25214408	0.014000	0.17966	0.001000	0.08648	0.274000	0.26718	0.017000	0.13399	-0.266000	0.09339	-0.264000	0.10439	ATT		0.438	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		C	26884408	T	C	26884408	3	2	137	1	0	0	0	0	1	0	0	0	15172	1493	52	3	577	3	SRRD	22	26884408	Missense_Mutation	SNP	T	TCGA-B0-4718-01A-01D-1361-10	6914935	26884408	24420158	71	8147											
KDM5C	8242	hgsc.bcm.edu	37	X	53230752	53230752	+	Nonsense_Mutation	SNP	G	G	A	rs370032584		TCGA-B0-4718-01A-01D-1361-10	TCGA-B0-4718-11A-01D-1361-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	698af929-547a-47d9-b7b6-3c096b1b3c75	d427b9ce-b2aa-4b47-97d5-0a74096d4e02	g.chrX:53230752G>A	ENST00000375401.3	-	14	2573	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.R680*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.R681*|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.R614*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.R640*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	681					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R681*(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGGGCCTTTCGTAGACGCCGC	0.562			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)											86	82	83					X																	53230752		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2041C>T	X.37:g.53230752G>A	ENSP00000364550:p.Arg681*		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	45	11.613684	0.99582	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	5.43	5.43	0.79202	.	0.059417	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.565	15.5376	0.76016	0.0:0.0:1.0:0.0	.	.	.	.	X	614;681;680;681;640	.	ENSP00000364528:R681X	R	-	1	2	KDM5C	53247477	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.048000	0.49862	2.263000	0.75096	0.600000	0.82982	CGA		0.562	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53230752	G	A	53230752	4	1	137	1	0	0	0	0	0	1	0	0	8137	1153	40	1	2791	1	KDM5C	23	53230752	Nonsense_Mutation	SNP	G	TCGA-B0-4718-01A-01D-1361-10		53230752	102039808	72	8148											
CCDC27	148870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	3669160	3669160	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr1:3669160C>A	ENST00000294600.2	+	1	199	c.115C>A	c.(115-117)Ctt>Att	p.L39I		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	39								p.L39I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CTCACTTGGTCTTTGCATCCC	0.587																																																1	Substitution - Missense(1)	kidney(1)											163	136	145					1																	3669160		2203	4300	6503	SO:0001583	missense	148870				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.115C>A	1.37:g.3669160C>A	ENSP00000294600:p.Leu39Ile		Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	C	4.287	0.052390	0.08291	.	.	ENSG00000162592	ENST00000294600	T	0.21361	2.01	2.84	-0.312	0.12758	.	2.851890	0.01697	N	0.026983	T	0.09774	0.0240	N	0.08118	0	0.09310	N	1	P	0.42518	0.782	B	0.37144	0.242	T	0.07271	-1.0781	10	0.31617	T	0.26	1.1614	2.4835	0.04593	0.2335:0.4889:0.0:0.2776	.	39	Q2M243	CCD27_HUMAN	I	39	ENSP00000294600:L39I	ENSP00000294600:L39I	L	+	1	0	CCDC27	3659020	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.374000	0.07484	-0.043000	0.13513	-0.145000	0.13849	CTT		0.587	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		A	3669160	C	A	3669160	3	1	138	1	0	0	0	0	1	0	0	0	2803	913	32	4	117	4	CCDC27	1	3669160	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10		3669160	245581461	1	8149											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11184589	11184589	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr1:11184589C>G	ENST00000361445.4	-	47	6704	c.6628G>C	c.(6628-6630)Gcc>Ccc	p.A2210P	MTOR_ENST00000376838.1_Missense_Mutation_p.A415P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2210	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A2210P(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGGTCATTGGCCAGAAGGGTG	0.463																																																1	Substitution - Missense(1)	kidney(1)											112	105	108					1																	11184589		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6628G>C	1.37:g.11184589C>G	ENSP00000354558:p.Ala2210Pro		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658527	0.88154	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.78595	-1.19;-1.19	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.84773	2.715	0.80722	D	1	D	0.57571	0.98	P	0.49047	0.599	D	0.83652	0.0156	10	0.30854	T	0.27	-15.1283	18.2956	0.90145	0.0:1.0:0.0:0.0	.	2210	P42345	MTOR_HUMAN	P	2210;415	ENSP00000354558:A2210P;ENSP00000366034:A415P	ENSP00000354558:A2210P	A	-	1	0	MTOR	11107176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.401000	0.79962	2.761000	0.94854	0.650000	0.86243	GCC		0.463	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11184589	C	G	11184589	3	3	138	1	0	0	0	0	1	0	0	0	9956	739	26	4	1069	4	MTOR	1	11184589	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10	7515429	11184589	238066032	2	8150											
COL11A1	1301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	103468818	103468818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr1:103468818G>A	ENST00000370096.3	-	21	2263	c.1951C>T	c.(1951-1953)Cga>Tga	p.R651*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.R612*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.R535*|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.R663*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	651	Collagen-like 4.|Collagen-like 5.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R663*(1)|p.R651*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGCAAACCTCGTGGGCCCTAG	0.418																																																2	Substitution - Nonsense(2)	kidney(2)											29	32	31					1																	103468818		2202	4300	6502	SO:0001587	stop_gained	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1951C>T	1.37:g.103468818G>A	ENSP00000359114:p.Arg651*		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	39	7.507290	0.98325	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	5.81	0.354	0.16063	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8276	0.85935	0.0:0.0:0.3043:0.6957	.	.	.	.	X	651;663;612;535	.	ENSP00000302551:R612X	R	-	1	2	COL11A1	103241406	0.552000	0.26505	0.813000	0.32504	0.595000	0.36748	0.746000	0.26275	-0.186000	0.10533	-0.230000	0.12252	CGA		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		A	103468818	G	A	103468818	4	1	138	1	0	0	0	0	0	1	0	0	3669	1153	40	1	3657	1	COL11A1	1	103468818	Nonsense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10	92284229	103468818	145781803	3	8151											
TXNIP	10628	broad.mit.edu	37	1	145440928	145440928	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr1:145440928C>G	ENST00000369317.4	+	7	1349	c.1015C>G	c.(1015-1017)Cct>Gct	p.P339A	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	339					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.P339A(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGTCATTCCTGAAGATCA	0.458																																																1	Substitution - Missense(1)	kidney(1)											151	149	150					1																	145440928		2203	4300	6503	SO:0001583	missense	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1015C>G	1.37:g.145440928C>G	ENSP00000358323:p.Pro339Ala		B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	CCDS913.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385769	0.25031	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.11385	3.11;2.78	5.05	3.15	0.36227	Immunoglobulin E-set (1);	0.212263	0.31685	N	0.007222	T	0.02848	0.0085	L	0.29908	0.895	0.36460	D	0.866625	B;B	0.22983	0.078;0.077	B;B	0.21917	0.037;0.013	T	0.33471	-0.9867	10	0.15499	T	0.54	-35.7427	13.4662	0.61256	0.0:0.7009:0.2991:0.0	.	284;339	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	A	339;284	ENSP00000358323:P339A;ENSP00000396322:P284A	ENSP00000358323:P339A	P	+	1	0	TXNIP	144152285	0.047000	0.20315	1.000000	0.80357	0.958000	0.62258	0.205000	0.17356	0.708000	0.31955	0.563000	0.77884	CCT		0.458	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		G	145440928	C	G	145440928	3	3	138	1	0	0	0	0	1	0	0	0	16808	855	30	4	1041	4	TXNIP	1	145440928	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10	41972110	145440928	103809693	4	8152											
FAM49A	81553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	16742257	16742257	+	Splice_Site	SNP	C	C	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr2:16742257C>T	ENST00000381323.3	-	9	931		c.e9+1		FAM49A_ENST00000355549.2_Splice_Site|FAM49A_ENST00000406434.1_Splice_Site	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A							intracellular (GO:0005622)		p.?(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATTTAACTTACGGAGTTTCCA	0.413																																																1	Unknown(1)	kidney(1)											186	165	172					2																	16742257		2203	4300	6503	SO:0001630	splice_region_variant	81553			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.710+1G>A	2.37:g.16742257C>T			B3KNZ1|Q53QW2	Splice_Site	SNP	ENST00000381323.3	37	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035503	0.75617	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	.	.	.	5.38	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4246	0.61018	0.0:0.9243:0.0:0.0757	.	.	.	.	.	-1	.	.	.	-	.	.	FAM49A	16605738	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	1.424000	0.47217	0.655000	0.94253	.		0.413	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797	Intron	T	16742257	C	T	16742257	5	4	138	1	0	0	0	0	0	0	1	0	5577	550	19	1	276	1	FAM49A	2	16742257	Splice_Site	SNP	C	TCGA-B0-4810-01A-01D-1501-10		16742257	226457116	5	8153											
MGAT5	4249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	135107382	135107382	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr2:135107382G>A	ENST00000409645.1	+	10	1371	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	MGAT5_ENST00000281923.2_Missense_Mutation_p.M373I			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	373					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.M373I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TCAGGTGCATGCTCCGAGTCC	0.408																																																1	Substitution - Missense(1)	kidney(1)											144	133	136					2																	135107382		2203	4300	6503	SO:0001583	missense	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1119G>A	2.37:g.135107382G>A	ENSP00000386377:p.Met373Ile		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547584	0.45383	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.02	4.15	0.48705	.	0.037478	0.85682	D	0.000000	T	0.57666	0.2069	L	0.54323	1.7	0.80722	D	1	B	0.21520	0.057	B	0.18561	0.022	T	0.58278	-0.7664	9	0.59425	D	0.04	-34.2743	13.7427	0.62857	0.075:0.0:0.925:0.0	.	373	Q09328	MGT5A_HUMAN	I	373	.	ENSP00000281923:M373I	M	+	3	0	MGAT5	134823852	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	9.809000	0.99208	1.223000	0.43536	-0.140000	0.14226	ATG		0.408	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		A	135107382	G	A	135107382	3	1	138	1	0	0	0	0	1	0	0	0	9550	1319	46	2	1153	2	MGAT5	2	135107382	Missense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10	118365125	135107382	108091991	6	8154											
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141135789	141135789	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr2:141135789C>A	ENST00000389484.3	-	68	11569	c.10598G>T	c.(10597-10599)tGg>tTg	p.W3533L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3533	LDL-receptor class A 26. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.W3533L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCATCACACCAAAACCTTGA	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	kidney(1)											118	105	110					2																	141135789		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10598G>T	2.37:g.141135789C>A	ENSP00000374135:p.Trp3533Leu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953496	0.73902	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94966	-3.57	5.48	5.48	0.80851	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.079166	0.53938	D	0.000043	T	0.79405	0.4440	N	0.00462	-1.47	0.36165	D	0.848397	B	0.33777	0.425	B	0.34418	0.182	T	0.83287	-0.0035	10	0.09843	T	0.71	.	12.6699	0.56862	0.0:0.9244:0.0:0.0756	.	3533	Q9NZR2	LRP1B_HUMAN	L	3533;3471	ENSP00000374135:W3533L	ENSP00000374135:W3533L	W	-	2	0	LRP1B	140852259	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.640000	0.61368	2.571000	0.86741	0.591000	0.81541	TGG		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141135789	C	A	141135789	3	1	138	1	0	0	0	0	1	0	0	0	8957	595	21	4	3297	4	LRP1B	2	141135789	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10	6028407	141135789	102063584	7	8155											
CLK1	1195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201721415	201721415	+	Silent	SNP	T	T	C			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr2:201721415T>C	ENST00000321356.4	-	9	1182	c.1047A>G	c.(1045-1047)gaA>gaG	p.E349E	CLK1_ENST00000434813.2_Silent_p.E391E|CLK1_ENST00000409769.2_Silent_p.E172E	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	349	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E391E(1)|p.E349E(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTAAAATAACTTCAGGTGCTC	0.323																																																2	Substitution - coding silent(2)	kidney(2)											123	120	121					2																	201721415		2202	4300	6502	SO:0001819	synonymous_variant	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1047A>G	2.37:g.201721415T>C			B4DFW7|Q0P694|Q8N5V8	Silent	SNP	ENST00000321356.4	37	CCDS2331.1																																																																																				0.323	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			C	201721415	T	C	201721415	2	2	138	1	0	0	0	0	0	0	0	1	3538	1606	56	3		3	CLK1	2	201721415	Silent	SNP	T	TCGA-B0-4810-01A-01D-1501-10	60585626	201721415	41477958	8	8156											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188224	10188224	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr3:10188224delG	ENST00000256474.2	+	2	1207	c.367delG	c.(367-369)gggfs	p.G123fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	123	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)|p.G123W(1)|p.R120fs*34(1)|p.L118_G123>P(1)|p.G123fs*8(1)|p.A122fs*7(1)|p.D121fs*35(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAGAGATGCAGGGACACACGA	0.507		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Deletion - Frameshift(4)|Substitution - Missense(1)|Unknown(1)|Complex - deletion inframe(1)	kidney(6)|lung(1)											192	178	183					3																	10188224		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.367delG	3.37:g.10188224delG	ENSP00000256474:p.Gly123fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188224	G	-	10188224	7	5	138	1	0	1	0	1	0	0	0	0	17167	1000	35	0	373	0	VHL	3	10188224	Frame_Shift_Del	DEL	G	TCGA-B0-4810-01A-01D-1501-10		10188224	187834206	9	8157											
CCDC13	152206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	42781196	42781196	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr3:42781196G>T	ENST00000310232.6	-	9	1177	c.1094C>A	c.(1093-1095)aCc>aAc	p.T365N	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	365								p.T365N(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACTCTTGAGGGTCTTCATCTC	0.562																																																1	Substitution - Missense(1)	kidney(1)											186	162	170					3																	42781196		2203	4300	6503	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1094C>A	3.37:g.42781196G>T	ENSP00000309836:p.Thr365Asn			Missense_Mutation	SNP	ENST00000310232.6	37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290479	0.80914	.	.	ENSG00000244607	ENST00000310232	T	0.23950	1.88	5.42	5.42	0.78866	.	0.167744	0.52532	D	0.000078	T	0.48095	0.1481	M	0.73598	2.24	0.32491	N	0.540122	D	0.76494	0.999	D	0.71656	0.974	T	0.60052	-0.7338	10	0.48119	T	0.1	.	11.4761	0.50300	0.084:0.0:0.916:0.0	.	365	Q8IYE1	CCD13_HUMAN	N	365	ENSP00000309836:T365N	ENSP00000309836:T365N	T	-	2	0	CCDC13	42756200	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.264000	0.58859	2.553000	0.86117	0.561000	0.74099	ACC		0.562	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		T	42781196	G	T	42781196	3	4	138	1	0	0	0	0	1	0	0	0	2767	1261	44	4	1085	4	CCDC13	3	42781196	Missense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10	32592972	42781196	155241234	10	8158											
GRM2	2912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	51749554	51749555	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr3:51749554_51749555delTT	ENST00000395052.3	+	4	1999_2000	c.1765_1766delTT	c.(1765-1767)tttfs	p.F589fs	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	589					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTGGGTGTCTTTGTGCGGCAC	0.619																																																0																																										SO:0001589	frameshift_variant	2912			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1765_1766delTT	3.37:g.51749554_51749555delTT	ENSP00000378492:p.Phe589fs		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Frame_Shift_Del	DEL	ENST00000395052.3	37	CCDS2834.1																																																																																				0.619	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			-	51749555	TT	-	51749554	7	5	138	1	0	1	0	1	0	0	0	0	6799	1609	56	0	1775	0	GRM2	3	51749554	Frame_Shift_Del	DEL	TT	TCGA-B0-4810-01A-01D-1501-10	8968358	51749554	146272876	11	8159											
ANAPC4	29945	hgsc.bcm.edu;ucsc.edu	37	4	25418164	25418164	+	Frame_Shift_Del	DEL	A	A	-	rs77845163	byFrequency	TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr4:25418164delA	ENST00000315368.3	+	27	2161	c.2019delA	c.(2017-2019)ttafs	p.L673fs	ANAPC4_ENST00000510092.1_Frame_Shift_Del_p.L674fs	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	673					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CTTTGTCTTTAGTATATAACA	0.353																																																0													109	105	106					4																	25418164		2203	4300	6503	SO:0001589	frameshift_variant	29945			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2019delA	4.37:g.25418164delA	ENSP00000318775:p.Leu673fs		A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Frame_Shift_Del	DEL	ENST00000315368.3	37	CCDS3434.1																																																																																				0.353	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		-	25418164	A	-	25418164	7	5	138	1	0	1	0	1	0	0	0	0	604	417	15	0	2121	0	ANAPC4	4	25418164	Frame_Shift_Del	DEL	A	TCGA-B0-4810-01A-01D-1501-10		25418164	165736112	12	8160											
ART3	419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77003637	77003637	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr4:77003637C>T	ENST00000355810.4	+	3	849	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	ART3_ENST00000349321.3_Missense_Mutation_p.L244F|ART3_ENST00000341029.5_Missense_Mutation_p.L244F|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	244					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L244F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAACCTTATCCTTCAAAGCAT	0.418																																																1	Substitution - Missense(1)	kidney(1)											121	115	117					4																	77003637		2203	4300	6503	SO:0001583	missense	419			X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.730C>T	4.37:g.77003637C>T	ENSP00000348064:p.Leu244Phe		Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	ENST00000355810.4	37	CCDS47079.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795416	0.70452	.	.	ENSG00000156219	ENST00000341029;ENST00000355810;ENST00000349321	T;T;T	0.27402	1.67;1.67;1.67	6.04	4.3	0.51218	.	0.422171	0.24447	N	0.038445	T	0.51686	0.1689	M	0.77486	2.375	0.33256	D	0.559143	D;P;D;P;D	0.67145	0.991;0.955;0.996;0.947;0.996	P;P;D;P;D	0.65573	0.905;0.841;0.936;0.779;0.919	T	0.62756	-0.6787	9	.	.	.	-2.5939	11.1414	0.48404	0.0:0.8696:0.0:0.1304	.	214;244;244;244;244	D6RBN3;B4DHX3;Q13508;Q13508-3;Q13508-2	.;.;NAR3_HUMAN;.;.	F	244	ENSP00000343843:L244F;ENSP00000348064:L244F;ENSP00000304313:L244F	.	L	+	1	0	ART3	77222661	0.907000	0.30839	1.000000	0.80357	0.841000	0.47740	2.320000	0.43797	2.873000	0.98535	0.563000	0.77884	CTT		0.418	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		T	77003637	C	T	77003637	3	4	138	1	0	0	0	0	1	0	0	0	998	681	24	2	736	2	ART3	4	77003637	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10	51585473	77003637	114150639	13	8161											
BMP2K	55589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	79831928	79831928	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr4:79831928G>T	ENST00000335016.5	+	16	2393	c.2227G>T	c.(2227-2229)Gat>Tat	p.D743Y	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	743					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.D743Y(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCTGAAAGTGATTTTGAATC	0.423																																																1	Substitution - Missense(1)	kidney(1)											93	87	89					4																	79831928		1886	4102	5988	SO:0001583	missense	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.2227G>T	4.37:g.79831928G>T	ENSP00000334836:p.Asp743Tyr		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.46|12.46	1.943796|1.943796	0.34283|0.34283	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000335016|ENST00000502613	D|.	0.82433|.	-1.61|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73361|.	0.3577|.	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.69142|.	0.962|.	T|.	0.69680|.	-0.5080|.	10|.	0.72032|.	D|.	0.01|.	-15.5313|-15.5313	19.7695|19.7695	0.96357|0.96357	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	743|.	Q9NSY1|.	BMP2K_HUMAN|.	Y|L	743|435	ENSP00000334836:D743Y|.	ENSP00000334836:D743Y|.	D|X	+|+	1|2	0|2	BMP2K|BMP2K	80050952|80050952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.070000|0.070000	0.16714|0.16714	9.231000|9.231000	0.95317|0.95317	2.688000|2.688000	0.91661|0.91661	0.555000|0.555000	0.69702|0.69702	GAT|TGA		0.423	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		T	79831928	G	T	79831928	3	4	138	1	0	0	0	0	1	0	0	0	1460	1290	45	4	2327	4	BMP2K	4	79831928	Missense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10	2828291	79831928	111322348	14	8162											
NHEDC2	133308	broad.mit.edu;ucsc.edu	37	4	103971409	103971409	+	Silent	SNP	A	A	G			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr4:103971409A>G	ENST00000394785.3	-	5	1204	c.573T>C	c.(571-573)ggT>ggC	p.G191G	SLC9B2_ENST00000362026.3_Silent_p.G191G|SLC9B2_ENST00000339611.4_Silent_p.G191G|SLC9B2_ENST00000503103.1_Silent_p.G134G|SLC9B2_ENST00000503230.1_Silent_p.G134G	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	191					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)	p.G191G(2)									TTGAATCCAGACCAAGGCCAG	0.383																																																2	Substitution - coding silent(2)	kidney(2)											102	87	92					4																	103971409		2203	4300	6503	SO:0001819	synonymous_variant	0			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.573T>C	4.37:g.103971409A>G			B5ME52|Q6ZMD8|Q96D95	Silent	SNP	ENST00000394785.3	37	CCDS3662.1																																																																																				0.383	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		G	103971409	A	G	103971409	2	3	138	1	0	0	0	0	0	0	0	1	10403	262	10	3		3	NHEDC2	4	103971409	Silent	SNP	A	TCGA-B0-4810-01A-01D-1501-10	24139481	103971409	87182867	15	8163											
ANKRD50	57182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	125590855	125590855	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr4:125590855T>C	ENST00000504087.1	-	4	4614	c.3577A>G	c.(3577-3579)Aga>Gga	p.R1193G	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R1014G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1193	Ser-rich.							p.R1193G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GAAGTAGTTCTCAAAGATGAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											98	99	99					4																	125590855		2203	4300	6503	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3577A>G	4.37:g.125590855T>C	ENSP00000425658:p.Arg1193Gly		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.248349	0.39797	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.67865	-0.29;-0.25	5.29	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	N	0.08118	0	0.41794	D	0.989889	B	0.27498	0.18	B	0.26969	0.075	T	0.31586	-0.9938	10	0.27082	T	0.32	.	11.6138	0.51076	0.0:0.0:0.4845:0.5155	.	1193	Q9ULJ7	ANR50_HUMAN	G	1193;1014	ENSP00000425658:R1193G;ENSP00000425355:R1014G	ENSP00000425658:R1193G	R	-	1	2	ANKRD50	125810305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.748000	0.55142	0.982000	0.38575	0.459000	0.35465	AGA		0.393	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		C	125590855	T	C	125590855	3	2	138	1	0	0	0	0	1	0	0	0	677	1559	54	3	716	3	ANKRD50	4	125590855	Missense_Mutation	SNP	T	TCGA-B0-4810-01A-01D-1501-10	21619446	125590855	65563421	16	8164											
NEK1	4750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	170510619	170510619	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr4:170510619C>T	ENST00000439128.2	-	6	1083	c.443G>A	c.(442-444)gGa>gAa	p.G148E	NEK1_ENST00000512193.1_Missense_Mutation_p.G148E|NEK1_ENST00000507142.1_Missense_Mutation_p.G148E|NEK1_ENST00000511633.1_Missense_Mutation_p.G148E|NEK1_ENST00000510533.1_Missense_Mutation_p.G148E	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.G148E(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTAGCAATTCCAAAATCTCC	0.289																																																2	Substitution - Missense(2)	kidney(2)											45	41	42					4																	170510619		1692	3896	5588	SO:0001583	missense	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.443G>A	4.37:g.170510619C>T	ENSP00000408020:p.Gly148Glu		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345850	0.95807	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	D	0.94122	0.8115	H	0.97758	4.07	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;1.0;1.0	D	0.95261	0.8369	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	148;148;148;148;148;148	Q96PY6-5;Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;.;NEK1_HUMAN	E	148	ENSP00000408020:G148E;ENSP00000423332:G148E;ENSP00000427653:G148E;ENSP00000424757:G148E;ENSP00000424938:G148E	ENSP00000408020:G148E	G	-	2	0	NEK1	170747194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.472000	0.80996	2.857000	0.98124	0.650000	0.86243	GGA		0.289	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			T	170510619	C	T	170510619	3	4	138	1	0	0	0	0	1	0	0	0	10323	855	30	2	3449	2	NEK1	4	170510619	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10	44919764	170510619	20643657	17	8165											
SHROOM1	134549	broad.mit.edu;ucsc.edu	37	5	132158628	132158629	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr5:132158628_132158629CC>TA	ENST00000378679.3	-	10	3222_3223	c.2418_2419GG>TA	c.(2416-2421)ctGGac>ctTAac	p.D807N	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000378676.1_Missense_Mutation_p.D738N|SHROOM1_ENST00000319854.3_Missense_Mutation_p.D802N	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	807	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)	p.D802N(1)|p.L801L(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCGCTCGTCCAGGTTGCGCT	0.708																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2418_2419delinsTA	5.37:g.132158628_132158629delinsTA	ENSP00000367950:p.Asp807Asn		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation|Silent	SNP	ENST00000378679.3	37	CCDS54902.1																																																																																				0.708	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		TA	132158629	CC	TA	132158628	3	4	138	1	0	0	0	0	1	0	0	0	14299	855	30	2	143	2	SHROOM1	5	132158628	Missense_Mutation	DNP	CC	TCGA-B0-4810-01A-01D-1501-10		132158628	48756632	18	8166											
FAM114A2	10827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	153390869	153390869	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr5:153390869A>T	ENST00000351797.4	-	9	1001	c.925T>A	c.(925-927)Ttt>Att	p.F309I	FAM114A2_ENST00000522858.1_Missense_Mutation_p.F309I|FAM114A2_ENST00000520313.1_Missense_Mutation_p.F239I|FAM114A2_ENST00000520667.1_Missense_Mutation_p.F309I	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	309							purine nucleotide binding (GO:0017076)	p.F309I(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCCTTGGTAAAATCTTCATCC	0.448																																																1	Substitution - Missense(1)	kidney(1)											94	91	92					5																	153390869		2203	4300	6503	SO:0001583	missense	10827			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 3"	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.925T>A	5.37:g.153390869A>T	ENSP00000341597:p.Phe309Ile		B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296041	0.81025	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.23754	2.12;2.12;2.12;1.89	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.84948	2.725	0.52099	D	0.999947	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.61103	-0.7130	10	0.66056	D	0.02	-13.2382	12.6522	0.56768	1.0:0.0:0.0:0.0	.	239;309	E7ESJ7;Q9NRY5	.;F1142_HUMAN	I	309;309;309;239	ENSP00000341597:F309I;ENSP00000430489:F309I;ENSP00000430384:F309I;ENSP00000429088:F239I	ENSP00000341597:F309I	F	-	1	0	FAM114A2	153371062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.405000	0.59741	1.873000	0.54277	0.460000	0.39030	TTT		0.448	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		T	153390869	A	T	153390869	3	4	138	1	0	0	0	0	1	0	0	0	5406	14	1	5	616	5	FAM114A2	5	153390869	Missense_Mutation	SNP	A	TCGA-B0-4810-01A-01D-1501-10	21232241	153390869	27524391	19	8167											
IFNGR1	3459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	137519168	137519168	+	Nonstop_Mutation	SNP	T	T	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr6:137519168T>A	ENST00000367739.4	-	7	1591	c.1470A>T	c.(1468-1470)tgA>tgT	p.*490C	IFNGR1_ENST00000543628.1_Nonstop_Mutation_p.*462C	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	0					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)	p.*490C(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TTAGCTGATCTCATGAAAATT	0.353																																																1	Nonstop extension(1)	kidney(1)											79	80	80					6																	137519168		2203	4300	6503	SO:0001578	stop_lost	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1470A>T	6.37:g.137519168T>A			B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.307048	0.23821	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	.	.	.	5.58	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5825	0.22602	0.0:0.2721:0.0:0.7279	.	.	.	.	C	490;462	.	.	X	-	3	0	IFNGR1	137560861	0.001000	0.12720	0.003000	0.11579	0.119000	0.20118	0.964000	0.29306	0.825000	0.34637	0.533000	0.62120	TGA		0.353	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			A	137519168	T	A	137519168	4	1	138	1	0	0	0	0	0	0	0	0	7551	1564	54	5	3	5	IFNGR1	6	137519168	Nonstop_Mutation	SNP	T	TCGA-B0-4810-01A-01D-1501-10		137519168	33595899	20	8168											
NT5C3	51251	broad.mit.edu;hgsc.bcm.edu	37	7	33054375	33054375	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr7:33054375T>G	ENST00000242210.7	-	9	1054	c.978A>C	c.(976-978)gaA>gaC	p.E326D	NT5C3A_ENST00000405342.1_Missense_Mutation_p.E287D|NT5C3A_ENST00000396152.2_Missense_Mutation_p.E287D|NT5C3A_ENST00000381626.2_Missense_Mutation_p.E275D|NT5C3A_ENST00000409467.1_Missense_Mutation_p.E275D|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000610140.1_Missense_Mutation_p.E321D	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	326					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.E326D(1)|p.E287D(1)									AGTTGGCTACTTCTAATGATT	0.348																																																2	Substitution - Missense(2)	kidney(2)											104	105	105					7																	33054375		2203	4298	6501	SO:0001583	missense	51251			AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"lupin"	606224	"5'-nucleotidase, cytosolic III"	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.978A>C	7.37:g.33054375T>G	ENSP00000242210:p.Glu326Asp		A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	T	2.207	-0.381569	0.05000	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.94	-7.24	0.01475	HAD-like domain (1);	0.211976	0.48286	N	0.000190	T	0.42086	0.1187	N	0.04387	-0.21	0.27569	N	0.949945	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.57093	-0.7870	10	0.02654	T	1	.	1.584	0.02640	0.3956:0.0963:0.1506:0.3575	.	326;287	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	D	275;287;326;287;275	ENSP00000371039:E275D;ENSP00000379456:E287D;ENSP00000242210:E326D;ENSP00000385261:E287D;ENSP00000387166:E275D	ENSP00000242210:E326D	E	-	3	2	NT5C3	33020900	0.000000	0.05858	0.012000	0.15200	0.864000	0.49448	-2.230000	0.01207	-1.784000	0.01272	-0.248000	0.11899	GAA		0.348	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		G	33054375	T	G	33054375	3	3	138	1	0	0	0	0	1	0	0	0	10690	1606	56	5	36	5	NT5C3	7	33054375	Missense_Mutation	SNP	T	TCGA-B0-4810-01A-01D-1501-10		33054375	126084288	21	8169											
MLL3	58508	hgsc.bcm.edu	37	7	151921164	151921167	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	AGGA	AGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr7:151921164_151921167delAGGA	ENST00000262189.6	-	20	3474_3477	c.3256_3259delTCCT	c.(3256-3261)tcctgtfs	p.SC1086fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.SC1086fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1086					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAGACTGGACAGGAAGATAAGCTT	0.407																																																0																																										SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3256_3259delTCCT	7.37:g.151921164_151921167delAGGA	ENSP00000262189:p.Ser1086fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	CCDS5931.1																																																																																				0.407	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	151921167	AGGA	-	151921164	7	5	138	1	0	1	0	1	0	0	0	0	9624	188	7	0	11636	0	MLL3	7	151921164	Frame_Shift_Del	DEL	AGGA	TCGA-B0-4810-01A-01D-1501-10	118866789	151921164	7217499	22	8170											
XKR6	286046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	10782233	10782233	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr8:10782233C>T	ENST00000416569.2	-	2	898	c.872G>A	c.(871-873)cGc>cAc	p.R291H	XKR6_ENST00000304437.2_Missense_Mutation_p.R12H	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	291						integral component of membrane (GO:0016021)		p.R291H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CTCCAGGAGGCGCAGCATGTT	0.592																																																1	Substitution - Missense(1)	kidney(1)											109	100	103					8																	10782233		2203	4300	6503	SO:0001583	missense	286046			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 7", "chromosome 8 open reading frame 21", "X Kell blood group precursor-related family, member 6", "chromosome 8 open reading frame 5"	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.872G>A	8.37:g.10782233C>T	ENSP00000416707:p.Arg291His		Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	CCDS5978.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.4|24.4	4.531591|4.531591	0.85706|0.85706	.|.	.|.	ENSG00000171044|ENSG00000171044	ENST00000382461|ENST00000304437;ENST00000416569	.|T;T	.|0.69926	.|-0.44;-0.44	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73908|0.73908	0.3647|0.3647	L|L	0.31845|0.31845	0.965|0.965	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.73959|0.73959	-0.3818|-0.3818	5|10	.|0.39692	.|T	.|0.17	-2.1414|-2.1414	16.9339|16.9339	0.86198|0.86198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|291	.|Q5GH73	.|XKR6_HUMAN	T|H	68|12;291	.|ENSP00000307120:R12H;ENSP00000416707:R291H	.|ENSP00000307120:R12H	A|R	-|-	1|2	0|0	XKR6|XKR6	10819643|10819643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.639000|7.639000	0.83342|0.83342	2.215000|2.215000	0.71742|0.71742	0.457000|0.457000	0.33378|0.33378	GCC|CGC		0.592	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		T	10782233	C	T	10782233	3	4	138	1	0	0	0	0	1	0	0	0	17440	768	27	1	1061	1	XKR6	8	10782233	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10		10782233	135581789	23	8171											
RP1	6101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	55542355	55542355	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr8:55542355C>A	ENST00000220676.1	+	4	6061	c.5913C>A	c.(5911-5913)aaC>aaA	p.N1971K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1971					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.N1971K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGAAGAGAACAATAAAGCAA	0.299																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	kidney(1)											52	57	55					8																	55542355		2200	4296	6496	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5913C>A	8.37:g.55542355C>A	ENSP00000220676:p.Asn1971Lys			Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	6.411	0.443938	0.12164	.	.	ENSG00000104237	ENST00000220676	T	0.25085	1.82	5.77	2.61	0.31194	.	0.227321	0.30510	N	0.009480	T	0.19685	0.0473	L	0.59436	1.845	0.09310	N	1	B	0.24721	0.11	B	0.17979	0.02	T	0.35599	-0.9782	10	0.87932	D	0	.	1.1198	0.01722	0.1522:0.4052:0.148:0.2946	.	1971	P56715	RP1_HUMAN	K	1971	ENSP00000220676:N1971K	ENSP00000220676:N1971K	N	+	3	2	RP1	55704908	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.883000	0.04170	0.200000	0.20447	0.655000	0.94253	AAC		0.299	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		A	55542355	C	A	55542355	3	1	138	1	0	0	0	0	1	0	0	0	13538	477	17	4	5923	4	RP1	8	55542355	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10	44760122	55542355	90821667	24	8172											
VPS13B	157680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	100711812	100711812	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr8:100711812G>T	ENST00000358544.2	+	36	6292	c.6181G>T	c.(6181-6183)Gat>Tat	p.D2061Y	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D2036Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2061					protein transport (GO:0015031)			p.D2061Y(1)|p.D2036Y(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACCAAACTGGATCAGATAAA	0.348																																					Colon(161;2205 2542 7338 31318)											2	Substitution - Missense(2)	kidney(2)											53	57	56					8																	100711812		2203	4299	6502	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6181G>T	8.37:g.100711812G>T	ENSP00000351346:p.Asp2061Tyr		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.740890	0.49151	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70516	-0.49;-0.49	5.58	4.7	0.59300	.	0.058865	0.64402	D	0.000004	T	0.69378	0.3104	L	0.38175	1.15	0.80722	D	1	P;P	0.37276	0.589;0.454	B;B	0.44108	0.441;0.256	T	0.72554	-0.4258	10	0.72032	D	0.01	.	16.6434	0.85138	0.0:0.1297:0.8703:0.0	.	2036;2061	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Y	2036;2061	ENSP00000349685:D2036Y;ENSP00000351346:D2061Y	ENSP00000349685:D2036Y	D	+	1	0	VPS13B	100780988	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.029000	0.70895	1.316000	0.45131	0.655000	0.94253	GAT		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100711812	G	T	100711812	3	4	138	1	0	0	0	0	1	0	0	0	17195	1174	41	4	6513	4	VPS13B	8	100711812	Missense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10	45169457	100711812	45652210	25	8173											
DSCC1	79075	broad.mit.edu;ucsc.edu	37	8	120865431	120865431	+	Missense_Mutation	SNP	G	G	T	rs374668937	byFrequency	TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr8:120865431G>T	ENST00000313655.4	-	2	421	c.207C>A	c.(205-207)gaC>gaA	p.D69E		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	69					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.D69E(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAGCTTGCTCGTCTTTATCAC	0.388																																																2	Substitution - Missense(2)	kidney(2)											143	130	134					8																	120865431		2203	4300	6503	SO:0001583	missense	79075				CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"	613203	"defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.207C>A	8.37:g.120865431G>T	ENSP00000322180:p.Asp69Glu		Q969N5	Missense_Mutation	SNP	ENST00000313655.4	37	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230255	0.39399	.	.	ENSG00000136982	ENST00000313655	T	0.44482	0.92	5.55	-6.05	0.02172	.	0.151172	0.56097	N	0.000021	T	0.18923	0.0454	L	0.28608	0.87	0.43499	D	0.995745	B	0.09022	0.002	B	0.12156	0.007	T	0.05937	-1.0855	10	0.19590	T	0.45	-13.5098	3.5565	0.07866	0.3345:0.1973:0.3717:0.0964	.	69	Q9BVC3	DCC1_HUMAN	E	69	ENSP00000322180:D69E	ENSP00000322180:D69E	D	-	3	2	DSCC1	120934612	0.435000	0.25577	0.947000	0.38551	0.848000	0.48234	-0.167000	0.09940	-0.867000	0.04063	-0.793000	0.03317	GAC		0.388	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		T	120865431	G	T	120865431	3	4	138	1	0	0	0	0	1	0	0	0	4772	1136	40	4	1006	4	DSCC1	8	120865431	Missense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10	20153619	120865431	25498591	26	8174											
KIAA1045	23349	broad.mit.edu	37	9	34971509	34971509	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr9:34971509A>G	ENST00000242315.3	+	2	296	c.214A>G	c.(214-216)Agt>Ggt	p.S72G	KIAA1045_ENST00000544237.1_Missense_Mutation_p.S72G|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	72							metal ion binding (GO:0046872)	p.S72G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAGGAAGAGAGTAGTGCCGG	0.642																																																1	Substitution - Missense(1)	kidney(1)											64	77	72					9																	34971509		2028	4177	6205	SO:0001583	missense	23349			AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.214A>G	9.37:g.34971509A>G	ENSP00000242315:p.Ser72Gly		B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	a	8.833	0.940340	0.18281	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.8	4.68	0.58851	.	0.467701	0.25291	N	0.031727	T	0.14098	0.0341	N	0.02011	-0.69	0.23391	N	0.997775	B	0.06786	0.001	B	0.08055	0.003	T	0.13335	-1.0513	9	0.27785	T	0.31	-5.6363	9.455	0.38750	0.8641:0.0:0.1359:0.0	.	72	Q9UPV7	K1045_HUMAN	G	72	.	ENSP00000242315:S72G	S	+	1	0	KIAA1045	34961509	1.000000	0.71417	0.994000	0.49952	0.378000	0.30076	1.063000	0.30567	2.216000	0.71823	0.533000	0.62120	AGT		0.642	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		G	34971509	A	G	34971509	3	3	138	1	0	0	0	0	1	0	0	0	8209	304	11	3	216	3	KIAA1045	9	34971509	Missense_Mutation	SNP	A	TCGA-B0-4810-01A-01D-1501-10		34971509	106241922	27	8175											
C10orf18	54906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5789390	5789390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr10:5789390G>T	ENST00000328090.5	+	15	4631	c.4006G>T	c.(4006-4008)Gaa>Taa	p.E1336*		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1336								p.E1336*(1)									AGAAAGCAGAGAAGTGAGTTC	0.423																																																1	Substitution - Nonsense(1)	kidney(1)											113	115	115					10																	5789390		1872	4098	5970	SO:0001587	stop_gained	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4006G>T	10.37:g.5789390G>T	ENSP00000328426:p.Glu1336*		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Nonsense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	44	10.668810	0.99447	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	.	.	.	5.55	1.5	0.22942	.	0.754781	0.12379	N	0.474078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.2888	0.15716	0.2611:0.1612:0.5777:0.0	.	.	.	.	X	1336;531	.	ENSP00000328426:E1336X	E	+	1	0	C10orf18	5829396	0.002000	0.14202	0.557000	0.28306	0.027000	0.11550	0.923000	0.28757	0.275000	0.22094	0.491000	0.48974	GAA		0.423	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		T	5789390	G	T	5789390	4	4	138	1	0	0	0	0	0	1	0	0	1598	943	33	4	4052	4	C10orf18	10	5789390	Nonsense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10		5789390	129745357	28	8176											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	10	89725043	89725043	+	Splice_Site	SNP	G	G	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr10:89725043G>A	ENST00000371953.3	+	9	2383		c.e9-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(7)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTTCTCTAGGTGAAGCTGT	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	54	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(7)|Deletion - In frame(1)	prostate(16)|central_nervous_system(12)|skin(5)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|kidney(1)											42	39	40					10																	89725043		2203	4300	6503	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1027-1G>A	10.37:g.89725043G>A			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033253	0.54896	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4116	0.94675	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89715023	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.426000	0.97469	2.652000	0.90054	0.586000	0.80456	.		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	A	89725043	G	A	89725043	5	1	138	1	0	0	0	0	0	0	1	0	12743	1014	35	2	1060	2	PTEN	10	89725043	Splice_Site	SNP	G	TCGA-B0-4810-01A-01D-1501-10	83935653	89725043	45809704	29	8177											
CCDC73	493860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32635626	32635626	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr11:32635626T>G	ENST00000335185.5	-	16	2281	c.2238A>C	c.(2236-2238)aaA>aaC	p.K746N	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	746								p.K746N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TACACATAGTTTTTCCCCCAG	0.333																																																1	Substitution - Missense(1)	kidney(1)											102	92	95					11																	32635626		1801	4068	5869	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2238A>C	11.37:g.32635626T>G	ENSP00000335325:p.Lys746Asn		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	1.794	-0.478832	0.04414	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.12	1.09	0.20402	.	1.017320	0.07834	N	0.961842	T	0.17280	0.0415	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.26416	0.069	T	0.26916	-1.0089	9	0.41790	T	0.15	.	1.9704	0.03405	0.2414:0.0827:0.1367:0.5392	.	746	Q6ZRK6	CCD73_HUMAN	N	746	.	ENSP00000335325:K746N	K	-	3	2	CCDC73	32592202	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	1.206000	0.32321	0.324000	0.23333	0.482000	0.46254	AAA		0.333	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		G	32635626	T	G	32635626	3	3	138	1	0	0	0	0	1	0	0	0	2848	1838	64	5	1013	5	CCDC73	11	32635626	Missense_Mutation	SNP	T	TCGA-B0-4810-01A-01D-1501-10		32635626	102370890	30	8178											
OR4C6	219432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55432900	55432900	+	Missense_Mutation	SNP	G	G	T	rs199670684		TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr11:55432900G>T	ENST00000314259.3	+	1	287	c.258G>T	c.(256-258)aaG>aaT	p.K86N		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K86N(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCCTCTCCAAGAGCACTACCA	0.488																																																1	Substitution - Missense(1)	kidney(1)											181	158	166					11																	55432900		2200	4296	6496	SO:0001583	missense	219432			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.258G>T	11.37:g.55432900G>T	ENSP00000324769:p.Lys86Asn		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	9.649	1.140990	0.21205	.	.	ENSG00000181903	ENST00000314259	T	0.03004	4.08	3.83	0.775	0.18527	GPCR, rhodopsin-like superfamily (1);	0.398819	0.17999	N	0.154945	T	0.02888	0.0086	L	0.28054	0.825	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.39881	-0.9592	10	0.56958	D	0.05	.	7.0553	0.25095	0.4074:0.0:0.5926:0.0	.	86	Q8NH72	OR4C6_HUMAN	N	86	ENSP00000324769:K86N	ENSP00000324769:K86N	K	+	3	2	OR4C6	55189476	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.446000	0.06837	0.148000	0.19059	0.543000	0.68304	AAG		0.488	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		T	55432900	G	T	55432900	3	4	138	1	0	0	0	0	1	0	0	0	11054	933	33	4	260	4	OR4C6	11	55432900	Missense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10	22797274	55432900	79573616	31	8179											
PYGM	5837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64527310	64527310	+	Missense_Mutation	SNP	C	C	T	rs145881639	byFrequency	TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr11:64527310C>T	ENST00000164139.3	-	1	459	c.61G>A	c.(61-63)Ggc>Agc	p.G21S	PYGM_ENST00000377432.3_Missense_Mutation_p.G21S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	21					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.G21S(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCTCCACGCCGGCCAGGCCA	0.572																																																1	Substitution - Missense(1)	kidney(1)						C	SER/GLY,SER/GLY	0,4402		0,0,2201	168	156	160		61,61	5.4	1	11	dbSNP_134	160	7,8587	5.7+/-21.5	0,7,4290	yes	missense,missense	PYGM	NM_001164716.1,NM_005609.2	56,56	0,7,6491	TT,TC,CC		0.0815,0.0,0.0539	benign,benign	21/755,21/843	64527310	7,12989	2201	4297	6498	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.61G>A	11.37:g.64527310C>T	ENSP00000164139:p.Gly21Ser		A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281070	0.80692	0.0	8.15E-4	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93307	-3.01;-3.2	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000014	D	0.95306	0.8477	L	0.53249	1.67	0.80722	D	1	D;B	0.89917	1.0;0.025	D;B	0.76071	0.987;0.004	D	0.93606	0.6934	10	0.25106	T	0.35	-26.1792	16.6868	0.85310	0.0:1.0:0.0:0.0	.	21;21	A6NDY6;P11217	.;PYGM_HUMAN	S	21	ENSP00000366650:G21S;ENSP00000164139:G21S	ENSP00000164139:G21S	G	-	1	0	PYGM	64283886	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.889000	0.69766	2.562000	0.86427	0.655000	0.94253	GGC		0.572	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		T	64527310	C	T	64527310	3	4	138	1	0	0	0	0	1	0	0	0	12868	652	23	1	2547	1	PYGM	11	64527310	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10	9094410	64527310	70479206	32	8180											
LRP5	4041	broad.mit.edu;hgsc.bcm.edu	37	11	68216349	68216349	+	Silent	SNP	C	C	T	rs112415702		TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr11:68216349C>T	ENST00000294304.7	+	23	4765	c.4659C>T	c.(4657-4659)agC>agT	p.S1553S	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1553	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S1553S(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCGACTACAGCGCCAGCCGCT	0.632																																																1	Substitution - coding silent(1)	kidney(1)											77	59	65					11																	68216349		2200	4294	6494	SO:0001819	synonymous_variant	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4659C>T	11.37:g.68216349C>T			Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	0.073	-1.199318	0.01581	.	.	ENSG00000162337	ENST00000529702	.	.	.	4.73	-9.46	0.00597	.	.	.	.	.	T	0.47060	0.1425	.	.	.	0.44685	D	0.997673	.	.	.	.	.	.	T	0.56080	-0.8038	4	.	.	.	.	8.8015	0.34912	0.0698:0.2623:0.0694:0.5986	.	.	.	.	V	110	.	.	A	+	2	0	LRP5	67972925	0.000000	0.05858	0.304000	0.25085	0.008000	0.06430	-4.626000	0.00206	-1.995000	0.00971	-0.477000	0.04895	GCG		0.632	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		T	68216349	C	T	68216349	2	4	138	1	0	0	0	0	0	0	0	1	8962	767	27	1		1	LRP5	11	68216349	Silent	SNP	C	TCGA-B0-4810-01A-01D-1501-10	3689039	68216349	66790167	33	8181											
PRB3	5544	broad.mit.edu	37	12	11420779	11420779	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr12:11420779G>A	ENST00000279573.7	-	3	539	c.404C>T	c.(403-405)cCg>cTg	p.P135L	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.P135L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	135	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.P135L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CGGACGAGGCGGGGGACCTTG	0.642																																																1	Substitution - Missense(1)	kidney(1)											29	35	33					12																	11420779		1507	3449	4956	SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.404C>T	12.37:g.11420779G>A	ENSP00000279573:p.Pro135Leu		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37		.	.	.	.	.	.	.	.	.	.	.	7.301	0.613025	0.14066	.	.	ENSG00000197870	ENST00000381842	T	0.06371	3.31	0.707	0.707	0.18139	.	0.651352	0.10932	U	0.618237	T	0.13586	0.0329	.	.	.	0.09310	N	0.999993	D	0.89917	1.0	P	0.58873	0.847	T	0.18935	-1.0321	9	0.45353	T	0.12	.	7.3619	0.26752	0.0:0.0:1.0:0.0	.	135	Q04118	PRB3_HUMAN	L	135	ENSP00000371264:P135L	ENSP00000279573:P135L	P	-	2	0	PRB3	11312046	0.001000	0.12720	0.002000	0.10522	0.026000	0.11368	0.715000	0.25822	0.686000	0.31488	0.134000	0.15878	CCG		0.642	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		A	11420779	G	A	11420779	3	1	138	1	0	0	0	0	1	0	0	0	12449	1116	39	1	533	1	PRB3	12	11420779	Missense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10		11420779	122431116	34	8182											
DENND5B	160518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	31540556	31540556	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr12:31540556A>T	ENST00000389082.5	-	21	4070	c.3806T>A	c.(3805-3807)aTc>aAc	p.I1269N	DENND5B_ENST00000536562.1_Missense_Mutation_p.I1304N|DENND5B_ENST00000306833.6_Missense_Mutation_p.I1304N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1269					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I1269N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CACTCCTTTGATGAGTGATCC	0.502																																																1	Substitution - Missense(1)	kidney(1)											92	86	88					12																	31540556		1939	4140	6079	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3806T>A	12.37:g.31540556A>T	ENSP00000373734:p.Ile1269Asn		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640269	0.47153	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.04275	3.66;3.77;3.77	4.98	3.85	0.44370	.	0.404056	0.24836	N	0.035220	T	0.05593	0.0147	N	0.22421	0.69	0.38027	D	0.935039	B;B	0.33345	0.286;0.409	B;B	0.40982	0.123;0.345	T	0.42531	-0.9446	10	0.72032	D	0.01	-16.6854	10.2458	0.43341	0.9225:0.0:0.0775:0.0	.	1269;1304	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	N	1269;1304;1304	ENSP00000373734:I1269N;ENSP00000306482:I1304N;ENSP00000444889:I1304N	ENSP00000306482:I1304N	I	-	2	0	DENND5B	31431823	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.912000	0.69948	0.948000	0.37687	0.482000	0.46254	ATC		0.502	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		T	31540556	A	T	31540556	3	4	138	1	0	0	0	0	1	0	0	0	4439	333	12	5	22	5	DENND5B	12	31540556	Missense_Mutation	SNP	A	TCGA-B0-4810-01A-01D-1501-10	20119777	31540556	102311339	35	8183											
PRICKLE1	144165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	42864091	42864091	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr12:42864091C>G	ENST00000455697.1	-	3	488	c.203G>C	c.(202-204)cGg>cCg	p.R68P	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R68P|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R68P|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R68P|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R68P	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	68	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R68P(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTGTTTAATCCGATGCTTCTC	0.398																																																1	Substitution - Missense(1)	kidney(1)											128	115	119					12																	42864091		2203	4300	6503	SO:0001583	missense	144165			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.203G>C	12.37:g.42864091C>G	ENSP00000401060:p.Arg68Pro		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021240	0.93462	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108;ENST00000551050;ENST00000547113	D;D;D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.38	5.38	0.77491	PET domain (2);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97815	1.0253	10	0.87932	D	0	-0.3777	19.5701	0.95409	0.0:1.0:0.0:0.0	.	68	Q96MT3	PRIC1_HUMAN	P	68	ENSP00000401060:R68P;ENSP00000398947:R68P;ENSP00000448359:R68P;ENSP00000345064:R68P;ENSP00000449819:R68P;ENSP00000447870:R68P;ENSP00000446970:R68P;ENSP00000446699:R68P	ENSP00000345064:R68P	R	-	2	0	PRICKLE1	41150358	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.702000	0.92279	0.556000	0.70494	CGG		0.398	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			G	42864091	C	G	42864091	3	3	138	1	0	0	0	0	1	0	0	0	12491	652	23	4	2316	4	PRICKLE1	12	42864091	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10	11323535	42864091	90987804	36	8184											
KCNMB4	27345	hgsc.bcm.edu	37	12	70760617	70760617	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr12:70760617delT	ENST00000258111.4	+	1	562	c.103delT	c.(103-105)ttcfs	p.F35fs		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	35					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GCTCTTCATCTTCGGCTTCTG	0.617																																																0													54	44	47					12																	70760617		2203	4300	6503	SO:0001589	frameshift_variant	27345			AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"Potassium channels"	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.103delT	12.37:g.70760617delT	ENSP00000258111:p.Phe35fs		Q8IVR3|Q9NPA4|Q9P0G5	Frame_Shift_Del	DEL	ENST00000258111.4	37	CCDS8997.1																																																																																				0.617	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		-	70760617	T	-	70760617	7	5	138	1	0	1	0	1	0	0	0	0	8079	1609	56	0	105	0	KCNMB4	12	70760617	Frame_Shift_Del	DEL	T	TCGA-B0-4810-01A-01D-1501-10	27896526	70760617	63091278	37	8185	67	2									
KCNMB4	27345	hgsc.bcm.edu	37	12	70760620	70760621	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr12:70760620_70760621delGG	ENST00000258111.4	+	1	565_566	c.106_107delGG	c.(106-108)ggcfs	p.G36fs		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	36					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	CTTCATCTTCGGCTTCTGCTGG	0.614																																																0																																										SO:0001589	frameshift_variant	27345			AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"Potassium channels"	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.106_107delGG	12.37:g.70760620_70760621delGG	ENSP00000258111:p.Gly36fs		Q8IVR3|Q9NPA4|Q9P0G5	Frame_Shift_Del	DEL	ENST00000258111.4	37	CCDS8997.1																																																																																				0.614	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		-	70760621	GG	-	70760620	7	5	138	1	0	1	0	1	0	0	0	0	8079	1116	39	0	108	0	KCNMB4	12	70760620	Frame_Shift_Del	DEL	GG	TCGA-B0-4810-01A-01D-1501-10	3	70760620	63091275	38	8186	67	2									
NOS1	4842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117728169	117728169	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr12:117728169G>T	ENST00000338101.4	-	3	919	c.915C>A	c.(913-915)ttC>ttA	p.F305L	NOS1_ENST00000317775.6_Missense_Mutation_p.F305L|NOS1_ENST00000344089.3_Missense_Mutation_p.S324Y			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.F305L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGACCTTGAGGAAGCGTGGAC	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)											1	Substitution - Missense(1)	kidney(1)											56	59	58					12																	117728169		2050	4195	6245	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.915C>A	12.37:g.117728169G>T	ENSP00000337459:p.Phe305Leu			Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.981114|2.981114	0.53827|0.53827	.|.	.|.	ENSG00000089250|ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101|ENST00000344089	T;T|T	0.39997|0.06068	1.05;1.05|3.35	5.13|5.13	3.16|3.16	0.36331|0.36331	Nitric oxide synthase, oxygenase domain (1);|.	0.272597|.	0.41938|.	D|.	0.000798|.	T|T	0.14570|0.14570	0.0352|0.0352	M|M	0.81239|0.81239	2.535|2.535	0.24347|0.24347	N|N	0.994935|0.994935	P|.	0.39535|.	0.677|.	B|.	0.28553|.	0.091|.	T|T	0.13575|0.13575	-1.0504|-1.0504	10|7	0.13108|0.87932	T|D	0.6|0	-25.4787|-25.4787	4.3721|4.3721	0.11253|0.11253	0.4214:0.0:0.5786:0.0|0.4214:0.0:0.5786:0.0	.|.	305|.	P29475|.	NOS1_HUMAN|.	L|Y	305|324	ENSP00000320758:F305L;ENSP00000337459:F305L|ENSP00000339862:S324Y	ENSP00000320758:F305L|ENSP00000339862:S324Y	F|S	-|-	3|2	2|0	NOS1|NOS1	116212552|116212552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.654000|0.654000	0.24918|0.24918	1.409000|1.409000	0.46915|0.46915	0.467000|0.467000	0.42956|0.42956	TTC|TCC		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			T	117728169	G	T	117728169	3	4	138	1	0	0	0	0	1	0	0	0	10543	1165	41	4	3493	4	NOS1	12	117728169	Missense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10	46967549	117728169	16123726	39	8187											
ATP8A2	51761	broad.mit.edu;ucsc.edu	37	13	26125480	26125480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr13:26125480C>A	ENST00000381655.2	+	11	1038	c.896C>A	c.(895-897)tCa>tAa	p.S299*	ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.S259*	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	259					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S299*(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GTGTAGAATTCAACCAAAGCG	0.463																																																1	Substitution - Nonsense(1)	kidney(1)											102	98	99					13																	26125480		1897	4118	6015	SO:0001587	stop_gained	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.896C>A	13.37:g.26125480C>A	ENSP00000371070:p.Ser299*		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Nonsense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	40	8.022192	0.98613	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	.	.	.	5.91	5.07	0.68467	.	0.061993	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1937	0.73067	0.0:0.9325:0.0:0.0675	.	.	.	.	X	299;259;79	.	ENSP00000255283:S259X	S	+	2	0	ATP8A2	25023480	1.000000	0.71417	0.990000	0.47175	0.477000	0.33069	7.776000	0.85560	1.514000	0.48869	0.549000	0.68633	TCA		0.463	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		A	26125480	C	A	26125480	4	1	138	1	0	0	0	0	0	1	0	0	1193	838	29	4	938	4	ATP8A2	13	26125480	Nonsense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10		26125480	89044398	40	8188											
CDX2	1045	broad.mit.edu	37	13	28542693	28542693	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr13:28542693delC	ENST00000381020.7	-	1	2583	c.451delG	c.(451-453)gctfs	p.A153fs	CDX2_ENST00000548877.1_5'Flank	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	153					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		TCGGCGGCAGCGGTGGCGGCG	0.736			T	ETV6	AML																																		Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0										66,3450		0,66,1692	8	12	10			4.7	0	13		10	77,6869		4,69,3400	no	frameshift	CDX2	NM_001265.3		4,135,5092	A1A1,A1R,RR		1.1086,1.8771,1.3669			28542693	143,10319	1852	3675	5527	SO:0001589	frameshift_variant	1045			Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"Homeoboxes / ANTP class : HOXL subclass"	1806	protein-coding gene	gene with protein product		600297	"caudal type homeo box transcription factor 2"	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.451delG	13.37:g.28542693delC	ENSP00000370408:p.Ala153fs		O00503|Q5VTU7|Q969L8|Q9UD92	Frame_Shift_Del	DEL	ENST00000381020.7	37	CCDS9328.1																																																																																				0.736	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5			-	28542693	C	-	28542693	7	5	138	1	0	1	0	1	0	0	0	0	3185	768	27	0	502	0	CDX2	13	28542693	Frame_Shift_Del	DEL	C	TCGA-B0-4810-01A-01D-1501-10	2417213	28542693	86627185	41	8189											
MED4	29079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	48651403	48651403	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr13:48651403T>C	ENST00000258648.2	-	7	710	c.685A>G	c.(685-687)Atg>Gtg	p.M229V	MED4_ENST00000378586.1_Missense_Mutation_p.M183V|MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	229					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.M229V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AACATATTCATCGACATGTCA	0.373																																					Pancreas(38;399 1016 9170 13426 20145)											1	Substitution - Missense(1)	kidney(1)											97	89	92					13																	48651403		2203	4300	6503	SO:0001583	missense	29079			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"vitamin D receptor interacting protein", "mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.685A>G	13.37:g.48651403T>C	ENSP00000258648:p.Met229Val		B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	T	9.935	1.215816	0.22373	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.72	-1.02	0.10135	.	0.313086	0.41712	N	0.000828	T	0.21509	0.0518	N	0.19112	0.55	0.28705	N	0.903847	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09100	-1.0690	9	0.33940	T	0.23	-5.4152	6.4712	0.22009	0.0:0.3175:0.1269:0.5555	.	207;229	E9PDW1;Q9NPJ6	.;MED4_HUMAN	V	229;207;183;207	.	ENSP00000258648:M229V	M	-	1	0	MED4	47549404	0.877000	0.30153	0.636000	0.29352	0.642000	0.38348	1.371000	0.34250	0.131000	0.18576	-0.353000	0.07706	ATG		0.373	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		C	48651403	T	C	48651403	3	2	138	1	0	0	0	0	1	0	0	0	9452	1435	50	3	131	3	MED4	13	48651403	Missense_Mutation	SNP	T	TCGA-B0-4810-01A-01D-1501-10	20108710	48651403	66518475	42	8190											
ARHGAP5	394	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	32560363	32560363	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr14:32560363T>G	ENST00000345122.3	+	2	803	c.488T>G	c.(487-489)aTt>aGt	p.I163S	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I163S|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I163S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I163S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	163					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.I163S(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTATTATGCATTGATGTAAGT	0.333																																					NSCLC(9;77 350 3443 29227 41353)											1	Substitution - Missense(1)	kidney(1)											90	86	87					14																	32560363		2203	4296	6499	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.488T>G	14.37:g.32560363T>G	ENSP00000371897:p.Ile163Ser		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262773	0.39995	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.78	4.62	0.57501	.	0.151725	0.56097	D	0.000026	D	0.84079	0.5393	L	0.54323	1.7	0.51482	D	0.999929	D;D	0.71674	0.997;0.998	D;D	0.70487	0.948;0.969	D	0.84659	0.0705	10	0.72032	D	0.01	.	12.3398	0.55087	0.1266:0.0:0.0:0.8734	.	163;163	Q13017-2;Q13017	.;RHG05_HUMAN	S	163	ENSP00000452222:I163S;ENSP00000441692:I163S;ENSP00000371897:I163S;ENSP00000393307:I163S	ENSP00000371897:I163S	I	+	2	0	ARHGAP5	31630114	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.186000	0.72026	0.984000	0.38629	0.533000	0.62120	ATT		0.333	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		G	32560363	T	G	32560363	3	3	138	1	0	0	0	0	1	0	0	0	886	1493	52	5	490	5	ARHGAP5	14	32560363	Missense_Mutation	SNP	T	TCGA-B0-4810-01A-01D-1501-10		32560363	74789177	43	8191											
MDGA2	161357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	47613333	47613333	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr14:47613333A>T	ENST00000399232.2	-	4	897	c.533T>A	c.(532-534)tTg>tAg	p.L178*	MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.L247*	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	178	Ig-like 2.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L247*(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCTTGCAGCAAGACCTCCTG	0.433																																																1	Substitution - Nonsense(1)	kidney(1)											137	120	125					14																	47613333		692	1591	2283	SO:0001587	stop_gained	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.533T>A	14.37:g.47613333A>T	ENSP00000382178:p.Leu178*		F6W3S7|J3KPX6	Nonsense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	A	37	6.152945	0.97329	.	.	ENSG00000139915	ENST00000439988;ENST00000399232	.	.	.	5.73	5.73	0.89815	.	0.000000	0.40144	U	0.001165	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8496	0.70286	1.0:0.0:0.0:0.0	.	.	.	.	X	178;247	.	ENSP00000382178:L247X	L	-	2	0	MDGA2	46683083	1.000000	0.71417	0.966000	0.40874	0.988000	0.76386	8.870000	0.92336	2.195000	0.70347	0.477000	0.44152	TTG		0.433	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		T	47613333	A	T	47613333	4	4	138	1	0	0	0	0	0	1	0	0	9409	131	5	5	2393	5	MDGA2	14	47613333	Nonsense_Mutation	SNP	A	TCGA-B0-4810-01A-01D-1501-10	15052970	47613333	59736207	44	8192											
SLC5A11	115584	broad.mit.edu;ucsc.edu	37	16	24918068	24918068	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr16:24918068T>C	ENST00000347898.3	+	11	1719	c.1097T>C	c.(1096-1098)cTg>cCg	p.L366P	SLC5A11_ENST00000569071.1_Silent_p.A233A|SLC5A11_ENST00000568579.1_Missense_Mutation_p.L296P|SLC5A11_ENST00000449109.2_Silent_p.A233A|SLC5A11_ENST00000545376.1_Missense_Mutation_p.L296P|SLC5A11_ENST00000539472.1_Missense_Mutation_p.L302P|SLC5A11_ENST00000567758.1_Missense_Mutation_p.L331P|SLC5A11_ENST00000565769.1_Missense_Mutation_p.L302P|SLC5A11_ENST00000424767.2_Missense_Mutation_p.L331P	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.L366P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AAACTCGTGCTGGAACTCCTG	0.557											OREG0023688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											96	78	84					16																	24918068		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1097T>C	16.37:g.24918068T>C	ENSP00000289932:p.Leu366Pro	775		Missense_Mutation	SNP	ENST00000347898.3	37	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.988080	0.53934	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.73	5.73	0.89815	.	0.166320	0.56097	D	0.000029	D	0.90827	0.7119	M	0.86268	2.805	0.58432	D	0.999999	B;B;B	0.30542	0.284;0.241;0.183	B;B;B	0.35312	0.2;0.126;0.166	D	0.90599	0.4543	10	0.87932	D	0	.	13.9636	0.64196	0.0:0.0:0.0:1.0	.	296;331;366	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	P	366;331;296;302	ENSP00000289932:L366P;ENSP00000416782:L331P;ENSP00000441384:L296P;ENSP00000441018:L302P	ENSP00000289932:L366P	L	+	2	0	SLC5A11	24825569	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.138000	0.71717	2.187000	0.69744	0.460000	0.39030	CTG		0.557	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		C	24918068	T	C	24918068	3	2	138	1	0	0	0	0	1	0	0	0	14669	1580	55	3	1135	3	SLC5A11	16	24918068	Missense_Mutation	SNP	T	TCGA-B0-4810-01A-01D-1501-10		24918068	65436685	45	8193											
FHOD1	29109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67264547	67264547	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr16:67264547G>T	ENST00000258201.4	-	18	3062	c.2815C>A	c.(2815-2817)Cgt>Agt	p.R939S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	939	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.R939S(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATGGCAACACGGCGGGCACAC	0.652																																																1	Substitution - Missense(1)	kidney(1)											140	142	142					16																	67264547		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2815C>A	16.37:g.67264547G>T	ENSP00000258201:p.Arg939Ser		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803589	0.70682	.	.	ENSG00000135723	ENST00000258201	T	0.16196	2.36	5.61	5.61	0.85477	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.046268	0.85682	D	0.000000	T	0.44286	0.1286	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.37798	-0.9690	10	0.52906	T	0.07	.	13.2058	0.59795	0.0:0.0:0.8407:0.1592	.	939	Q9Y613	FHOD1_HUMAN	S	939	ENSP00000258201:R939S	ENSP00000258201:R939S	R	-	1	0	FHOD1	65822048	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.832000	0.55783	2.644000	0.89710	0.561000	0.74099	CGT		0.652	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			T	67264547	G	T	67264547	3	4	138	1	0	0	0	0	1	0	0	0	5884	1116	39	4	699	4	FHOD1	16	67264547	Missense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10	42346479	67264547	23090206	46	8194											
NLRP1	22861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5462474	5462474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr17:5462474C>T	ENST00000572272.1	-	4	1541	c.1542G>A	c.(1540-1542)tgG>tgA	p.W514*	NLRP1_ENST00000269280.4_Nonsense_Mutation_p.W514*|NLRP1_ENST00000345221.3_Nonsense_Mutation_p.W514*|NLRP1_ENST00000577119.1_Nonsense_Mutation_p.W514*|NLRP1_ENST00000262467.5_Nonsense_Mutation_p.W514*|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.W514*			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	514	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.W514*(3)|p.W514C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GACACAGGGCCCAGAGCTCTT	0.488																																																4	Substitution - Nonsense(3)|Substitution - Missense(1)	kidney(3)|large_intestine(1)											100	97	98					17																	5462474		2203	4300	6503	SO:0001587	stop_gained	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1542G>A	17.37:g.5462474C>T	ENSP00000460475:p.Trp514*		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Nonsense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	39	7.788427	0.98489	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	.	.	.	4.44	-0.224	0.13115	.	0.622916	0.12234	N	0.487136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	4.5986	0.12341	0.0:0.4421:0.3541:0.2038	.	.	.	.	X	514	.	ENSP00000262467:W514X	W	-	3	0	NLRP1	5403198	0.000000	0.05858	0.002000	0.10522	0.048000	0.14542	-0.846000	0.04336	0.217000	0.20800	0.650000	0.86243	TGG		0.488	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		T	5462474	C	T	5462474	4	4	138	1	0	0	0	0	0	1	0	0	10473	624	22	2	3010	2	NLRP1	17	5462474	Nonsense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10		5462474	75732736	47	8195											
SHMT1	6470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18250958	18250958	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr17:18250958T>A	ENST00000316694.3	-	5	505	c.371A>T	c.(370-372)aAc>aTc	p.N124I	SHMT1_ENST00000354098.3_Missense_Mutation_p.N124I|SHMT1_ENST00000539052.1_5'UTR|SHMT1_ENST00000352886.6_Missense_Mutation_p.N124I	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	124					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.N124I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CACAGCAAAGTTTGCAGGGGA	0.567																																																1	Substitution - Missense(1)	kidney(1)											69	72	71					17																	18250958		2203	4300	6503	SO:0001583	missense	6470				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.371A>T	17.37:g.18250958T>A	ENSP00000318868:p.Asn124Ile		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077700	0.36662	.	.	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000354098;ENST00000395685	T;T;T	0.58940	0.3;0.3;0.3	5.06	5.06	0.68205	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	H	0.99650	4.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92797	0.6253	10	0.87932	D	0	-38.6122	15.1444	0.72637	0.0:0.0:0.0:1.0	.	124;124;124;124	B4DZB5;A8MYA6;P34896-2;P34896	.;.;.;GLYC_HUMAN	I	124	ENSP00000318868:N124I;ENSP00000345881:N124I;ENSP00000318805:N124I	ENSP00000318868:N124I	N	-	2	0	SHMT1	18191683	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	7.862000	0.87013	2.035000	0.60131	0.379000	0.24179	AAC		0.567	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		A	18250958	T	A	18250958	3	1	138	1	0	0	0	0	1	0	0	0	14291	1725	60	5	1112	5	SHMT1	17	18250958	Missense_Mutation	SNP	T	TCGA-B0-4810-01A-01D-1501-10	12788484	18250958	62944252	48	8196											
SLC4A1	6521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42335974	42335974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr17:42335974delG	ENST00000262418.6	-	10	1049	c.894delC	c.(892-894)gccfs	p.A298fs	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	298					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAGCCATGTAGGCATCTATGC	0.657																																																0													24	25	25					17																	42335974		2199	4297	6496	SO:0001589	frameshift_variant	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.894delC	17.37:g.42335974delG	ENSP00000262418:p.Ala298fs		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Frame_Shift_Del	DEL	ENST00000262418.6	37	CCDS11481.1																																																																																				0.657	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		-	42335974	G	-	42335974	7	5	138	1	0	1	0	1	0	0	0	0	14656	987	35	0	1885	0	SLC4A1	17	42335974	Frame_Shift_Del	DEL	G	TCGA-B0-4810-01A-01D-1501-10	24085016	42335974	38859236	49	8197											
OR4D2	124538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56247641	56247641	+	Missense_Mutation	SNP	G	G	A	rs149114670		TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr17:56247641G>A	ENST00000545221.1	+	1	625	c.625G>A	c.(625-627)Gtc>Atc	p.V209I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V209I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCTGGATGTCGTCTGGTTCTT	0.527																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)						A	ILE/VAL	2,4404	826.0+/-416.6	0,2,2201	174	130	145		625	4.6	0.9	17	dbSNP_134	145	0,8600		0,0,4300	yes	missense	OR4D2	NM_001004707.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	209/308	56247641	2,13004	2203	4300	6503	SO:0001583	missense	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.625G>A	17.37:g.56247641G>A	ENSP00000441354:p.Val209Ile		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.670560	0.00758	4.54E-4	0.0	ENSG00000255713	ENST00000545221	T	0.35236	1.32	5.71	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.114355	0.39274	N	0.001415	T	0.17492	0.0420	N	0.16130	0.375	0.18873	N	0.999984	B	0.06786	0.001	B	0.09377	0.004	T	0.33574	-0.9863	10	0.02654	T	1	-40.4738	9.1704	0.37076	0.8488:0.0:0.1512:0.0	.	209	P58180	OR4D2_HUMAN	I	209	ENSP00000441354:V209I	ENSP00000441354:V209I	V	+	1	0	OR4D2	53602640	0.000000	0.05858	0.867000	0.34043	0.054000	0.15201	-0.064000	0.11636	0.516000	0.28340	-0.308000	0.09152	GTC		0.527	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			A	56247641	G	A	56247641	3	1	138	1	0	0	0	0	1	0	0	0	11058	1145	40	1	627	1	OR4D2	17	56247641	Missense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10	13911667	56247641	24947569	50	8198											
TCF4	6925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	52937099	52937099	+	Silent	SNP	G	G	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr18:52937099G>A	ENST00000356073.4	-	11	1496	c.885C>T	c.(883-885)tcC>tcT	p.S295S	TCF4_ENST00000543082.1_Silent_p.S253S|TCF4_ENST00000561992.1_Silent_p.S165S|TCF4_ENST00000567880.1_Silent_p.S235S|TCF4_ENST00000544241.2_Silent_p.S224S|TCF4_ENST00000570287.2_Silent_p.S135S|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000537578.1_Silent_p.S271S|TCF4_ENST00000354452.3_Silent_p.S295S|TCF4_ENST00000564403.2_Silent_p.S301S|TCF4_ENST00000568673.1_Silent_p.S271S|TCF4_ENST00000564999.1_Silent_p.S295S|TCF4_ENST00000540999.1_Silent_p.S271S|TCF4_ENST00000566286.1_Silent_p.S293S|TCF4_ENST00000568740.1_Silent_p.S270S|TCF4_ENST00000565018.2_Silent_p.S295S|TCF4_ENST00000564228.1_Silent_p.S224S|TCF4_ENST00000561831.3_Silent_p.S135S|TCF4_ENST00000570177.2_Silent_p.S165S|TCF4_ENST00000398339.1_Silent_p.S397S|TCF4_ENST00000457482.3_Silent_p.S135S|TCF4_ENST00000566279.1_Silent_p.S235S|TCF4_ENST00000537856.3_Silent_p.S165S	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	295					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.S397S(1)|p.S295S(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAGGCGTACAGGAAGAGGTGC	0.458																																																2	Substitution - coding silent(2)	kidney(2)											177	144	155					18																	52937099		2203	4300	6503	SO:0001819	synonymous_variant	6925			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.885C>T	18.37:g.52937099G>A			B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	ENST00000356073.4	37	CCDS11960.1																																																																																				0.458	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		A	52937099	G	A	52937099	2	1	138	1	0	0	0	0	0	0	0	1	15700	987	35	2		2	TCF4	18	52937099	Silent	SNP	G	TCGA-B0-4810-01A-01D-1501-10		52937099	25140149	51	8199											
TNFSF14	8740	broad.mit.edu	37	19	6665221	6665221	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr19:6665221C>A	ENST00000599359.1	-	5	820	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	TNFSF14_ENST00000326176.9_Missense_Mutation_p.V111L|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V111L			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	147					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)	p.V147L(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCCAGCTGCACCTTGGAGTAG	0.647																																																1	Substitution - Missense(1)	kidney(1)											49	41	44					19																	6665221		2203	4299	6502	SO:0001583	missense	8740			AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.439G>T	19.37:g.6665221C>A	ENSP00000469049:p.Val147Leu		A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307819	0.40795	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.48201	0.82	4.96	3.92	0.45320	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.177879	0.35436	N	0.003202	T	0.40979	0.1139	L	0.49699	1.58	0.28051	N	0.933353	P;P	0.40197	0.706;0.657	B;B	0.39840	0.311;0.073	T	0.35943	-0.9768	10	0.46703	T	0.11	-7.3133	8.807	0.34943	0.1541:0.5622:0.2837:0.0	.	147;111	O43557;O43557-2	TNF14_HUMAN;.	L	147;111	ENSP00000326940:V111L	ENSP00000245912:V147L	V	-	1	0	TNFSF14	6616221	0.999000	0.42202	0.998000	0.56505	0.629000	0.37895	1.066000	0.30604	1.085000	0.41206	-0.310000	0.09108	GTG		0.647	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			A	6665221	C	A	6665221	3	1	138	1	0	0	0	0	1	0	0	0	16312	507	18	4	287	4	TNFSF14	19	6665221	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10		6665221	52463762	52	8200											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9085732	9085732	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr19:9085732G>A	ENST00000397910.4	-	1	6286	c.6083C>T	c.(6082-6084)tCt>tTt	p.S2028F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2028	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2028F(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAATATGGAGAGGATGTGCT	0.488																																																2	Substitution - Missense(2)	kidney(2)											128	123	125					19																	9085732		2013	4178	6191	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6083C>T	19.37:g.9085732G>A	ENSP00000381008:p.Ser2028Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-1.969420	0.00457	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.21309	0.054	B	0.21151	0.033	T	0.48969	-0.8987	7	0.87932	D	0	.	.	.	.	.	2028	B5ME49	.	F	2028	ENSP00000381008:S2028F	ENSP00000381008:S2028F	S	-	2	0	MUC16	8946732	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.189000	0.03061	-1.808000	0.01234	-1.786000	0.00637	TCT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9085732	G	A	9085732	3	1	138	1	0	0	0	0	1	0	0	0	9975	942	33	2	37776	2	MUC16	19	9085732	Missense_Mutation	SNP	G	TCGA-B0-4810-01A-01D-1501-10	2420511	9085732	50043251	53	8201											
OR1I1	126370	broad.mit.edu	37	19	15198934	15198934	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr19:15198934A>G	ENST00000209540.2	+	1	1144	c.1058A>G	c.(1057-1059)gAc>gGc	p.D353G		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	353						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D353G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						gggaacagagacatggaataa	0.458																																																1	Substitution - Missense(1)	kidney(1)											35	26	29					19																	15198934		2194	4267	6461	SO:0001583	missense	126370			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"GPCR / Class A : Olfactory receptors"	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.1058A>G	19.37:g.15198934A>G	ENSP00000209540:p.Asp353Gly		Q96R92	Missense_Mutation	SNP	ENST00000209540.2	37	CCDS32937.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901806	0.33535	.	.	ENSG00000094661	ENST00000209540	T	0.00631	6.09	2.46	-2.76	0.05896	.	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47209	-0.9135	9	0.62326	D	0.03	.	0.3355	0.00325	0.3411:0.1992:0.2647:0.195	.	353	O60431	OR1I1_HUMAN	G	353	ENSP00000209540:D353G	ENSP00000209540:D353G	D	+	2	0	OR1I1	15059934	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.810000	0.04505	-0.827000	0.04278	-0.425000	0.05940	GAC		0.458	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			G	15198934	A	G	15198934	3	3	138	1	0	0	0	0	1	0	0	0	10960	275	10	3	1060	3	OR1I1	19	15198934	Missense_Mutation	SNP	A	TCGA-B0-4810-01A-01D-1501-10	6113202	15198934	43930049	54	8202											
AKAP8	10270	broad.mit.edu;ucsc.edu	37	19	15465831	15465831	+	Silent	SNP	T	T	C			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr19:15465831T>C	ENST00000269701.2	-	14	2034	c.1974A>G	c.(1972-1974)gcA>gcG	p.A658A		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	658					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A658A(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTTCTGCCTCTGCTGCCATTG	0.587																																					GBM(190;1671 2163 3274 27186 30476)											1	Substitution - coding silent(1)	kidney(1)											74	66	68					19																	15465831		2203	4300	6503	SO:0001819	synonymous_variant	10270			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1974A>G	19.37:g.15465831T>C				Silent	SNP	ENST00000269701.2	37	CCDS12329.1																																																																																				0.587	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		C	15465831	T	C	15465831	2	2	138	1	0	0	0	0	0	0	0	1	457	1567	55	3		3	AKAP8	19	15465831	Silent	SNP	T	TCGA-B0-4810-01A-01D-1501-10	266897	15465831	43663152	55	8203											
PIK3R2	5296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18278085	18278085	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr19:18278085C>A	ENST00000593731.1	+	13	2265	c.1705C>A	c.(1705-1707)Cag>Aag	p.Q569K	PIK3R2_ENST00000222254.8_Missense_Mutation_p.Q569K			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	569					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.Q569K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GGACCTCATGCAGCTGCGCAA	0.622																																																1	Substitution - Missense(1)	kidney(1)											76	81	80					19																	18278085		2203	4300	6503	SO:0001583	missense	5296				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1705C>A	19.37:g.18278085C>A	ENSP00000471914:p.Gln569Lys		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968675	0.74131	.	.	ENSG00000105647	ENST00000222254	T	0.29655	1.56	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.80028	2.48	0.80722	D	1	D	0.61080	0.989	P	0.58266	0.836	T	0.62455	-0.6851	10	0.66056	D	0.02	-36.2329	16.4813	0.84158	0.0:1.0:0.0:0.0	.	569	O00459	P85B_HUMAN	K	569	ENSP00000222254:Q569K	ENSP00000222254:Q569K	Q	+	1	0	PIK3R2	18139085	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.663000	0.83820	2.288000	0.76882	0.561000	0.74099	CAG		0.622	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		A	18278085	C	A	18278085	3	1	138	1	0	0	0	0	1	0	0	0	11921	711	25	4	1751	4	PIK3R2	19	18278085	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10	2812254	18278085	40850898	56	8204											
RPL18	6141	broad.mit.edu;hgsc.bcm.edu	37	19	49121088	49121088	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr19:49121088T>G	ENST00000549920.1	-	2	442	c.50A>C	c.(49-51)gAg>gCg	p.E17A	AC022154.7_ENST00000594850.1_RNA|RPL18_ENST00000549273.1_Missense_Mutation_p.E17A|FAM83E_ENST00000595110.1_5'Flank|SPHK2_ENST00000245222.4_5'Flank|RPL18_ENST00000552588.1_Intron|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000601712.1_5'Flank|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000600537.1_5'Flank|SPHK2_ENST00000340932.3_5'Flank|SPHK2_ENST00000598088.1_5'Flank|RPL18_ENST00000550645.1_Missense_Mutation_p.E17A	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	17					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.E17A(1)		cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GCTCTTGGGCTCCTTGCGCCG	0.572																																																1	Substitution - Missense(1)	kidney(1)											111	86	94					19																	49121088		2203	4300	6503	SO:0001583	missense	6141			L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"L ribosomal proteins"	10310	protein-coding gene	gene with protein product	"60S ribosomal protein L18"	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.50A>C	19.37:g.49121088T>G	ENSP00000447001:p.Glu17Ala		F8VWC5|Q8WTZ6	Missense_Mutation	SNP	ENST00000549920.1	37	CCDS12726.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559884	0.27827	.	.	ENSG00000063177	ENST00000549920;ENST00000550645;ENST00000549273;ENST00000450952	.	.	.	4.86	4.86	0.63082	Ribosomal protein L18e/L15P (1);	0.052999	0.64402	D	0.000001	T	0.36853	0.0982	N	0.12471	0.22	0.80722	D	1	B;B	0.19200	0.034;0.001	B;B	0.24974	0.057;0.013	T	0.20174	-1.0283	9	0.07813	T	0.8	-37.0666	13.034	0.58859	0.0:0.0:0.0:1.0	.	17;17	B4DDY5;Q07020	.;RL18_HUMAN	A	17	.	ENSP00000407348:E17A	E	-	2	0	RPL18	53812900	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.947000	0.75959	2.131000	0.65755	0.533000	0.62120	GAG		0.572	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405732.2	NM_000979		G	49121088	T	G	49121088	3	3	138	1	0	0	0	0	1	0	0	0	13570	1551	54	5	540	5	RPL18	19	49121088	Missense_Mutation	SNP	T	TCGA-B0-4810-01A-01D-1501-10	30843003	49121088	10007895	57	8205											
COMT	1312	broad.mit.edu;ucsc.edu	37	22	19956115	19956115	+	Silent	SNP	A	A	G			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chr22:19956115A>G	ENST00000361682.6	+	6	1054	c.672A>G	c.(670-672)ccA>ccG	p.P224P	COMT_ENST00000403710.1_Silent_p.P224P|COMT_ENST00000406520.3_Silent_p.P224P|COMT_ENST00000449653.1_Silent_p.P174P|COMT_ENST00000407537.1_Silent_p.P174P	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	224					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)	p.P224P(1)		kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	TGATCTGCCCAGGTGCGCCAG	0.622																																																1	Substitution - coding silent(1)	kidney(1)											92	72	79					22																	19956115		2203	4300	6503	SO:0001819	synonymous_variant	1312				CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.672A>G	22.37:g.19956115A>G			A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Silent	SNP	ENST00000361682.6	37	CCDS13770.1																																																																																				0.622	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2	NM_000754		G	19956115	A	G	19956115	2	3	138	1	0	0	0	0	0	0	0	1	3727	175	7	3		3	COMT	22	19956115	Silent	SNP	A	TCGA-B0-4810-01A-01D-1501-10		19956115	31348451	58	8206											
FAM9A	171482	broad.mit.edu;hgsc.bcm.edu	37	X	8763259	8763259	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chrX:8763259C>T	ENST00000543214.1	-	7	826	c.691G>A	c.(691-693)Gag>Aag	p.E231K	FAM9A_ENST00000381003.3_Missense_Mutation_p.E231K	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	231	Glu-rich.					nucleus (GO:0005634)		p.E231K(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tctttctcctcctcctcctcc	0.517																																																1	Substitution - Missense(1)	kidney(1)											24	20	22					X																	8763259		2160	4211	6371	SO:0001583	missense	171482				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.691G>A	X.37:g.8763259C>T	ENSP00000440163:p.Glu231Lys		B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	c	7.892	0.732446	0.15507	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	.	.	.	.	.	.	.	.	T	0.23249	0.0562	N	0.08118	0	0.09310	N	1	P	0.37398	0.593	P	0.45577	0.486	T	0.25152	-1.0140	6	0.46703	T	0.11	.	.	.	.	.	231	Q8IZU1	FAM9A_HUMAN	K	231	.	ENSP00000370391:E231K	E	-	1	0	FAM9A	8723259	0.011000	0.17503	0.053000	0.19242	0.053000	0.15095	0.276000	0.18716	0.099000	0.17552	0.100000	0.15512	GAG		0.517	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		T	8763259	C	T	8763259	3	4	138	1	0	0	0	0	1	0	0	0	5661	864	30	2	319	2	FAM9A	23	8763259	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10		8763259	146507301	59	8207											
BMX	660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	15540571	15540571	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chrX:15540571C>A	ENST00000357607.2	+	7	801	c.613C>A	c.(613-615)Cag>Aag	p.Q205K	BMX_ENST00000342014.6_Missense_Mutation_p.Q205K|BMX_ENST00000348343.6_Missense_Mutation_p.Q205K			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	205					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.Q205K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CTATGGCTCCCAGCCACCATC	0.443																																																1	Substitution - Missense(1)	kidney(1)											138	118	125					X																	15540571		2203	4300	6503	SO:0001583	missense	660			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.613C>A	X.37:g.15540571C>A	ENSP00000350224:p.Gln205Lys		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.528779	0.00959	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.75154	-0.91;-0.91;-0.91	0.226	0.226	0.15353	.	.	.	.	.	T	0.45657	0.1353	N	0.08118	0	0.09310	N	1	B	0.26041	0.14	B	0.22880	0.042	T	0.34428	-0.9829	8	0.06365	T	0.9	.	.	.	.	.	205	P51813	BMX_HUMAN	K	205	ENSP00000350224:Q205K;ENSP00000308774:Q205K;ENSP00000340082:Q205K	ENSP00000340082:Q205K	Q	+	1	0	BMX	15450492	0.004000	0.15560	0.025000	0.17156	0.034000	0.12701	0.302000	0.19192	0.283000	0.22279	0.287000	0.19450	CAG		0.443	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		A	15540571	C	A	15540571	3	1	138	1	0	0	0	0	1	0	0	0	1473	595	21	4	635	4	BMX	23	15540571	Missense_Mutation	SNP	C	TCGA-B0-4810-01A-01D-1501-10	6777312	15540571	139729989	60	8208											
RPGR	6103	hgsc.bcm.edu	37	X	38145180	38145180	+	Intron	SNP	C	C	T	rs373542041|rs199896738		TCGA-B0-4810-01A-01D-1501-10	TCGA-B0-4810-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e014eeeb-c48e-42bb-a683-93299087a3cf	0ca418e3-1de1-40b8-bd40-cb8f47bc0658	g.chrX:38145180C>T	ENST00000339363.3	-	14	2688				RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000378505.2_Silent_p.E1024E|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.E1024E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccccttccacctccccttcca	0.562																																																1	Substitution - coding silent(1)	endometrium(1)											60	41	48					X																	38145180		2177	4269	6446	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1166G>A	X.37:g.38145180C>T			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37																																																																																					0.562	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		T	38145180	C	T	38145180	1	4	138	0	1	0	0	0	0	0	0	0	13554	680	24	2		2	RPGR	23	38145180	Intron	SNP	C	TCGA-B0-4810-01A-01D-1501-10	22604609	38145180	117125380	61	8209											
IPO13	9670	broad.mit.edu	37	1	44433044	44433044	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:44433044G>T	ENST00000372343.3	+	19	3333	c.2671G>T	c.(2671-2673)Gcc>Tcc	p.A891S	DPH2_ENST00000412950.2_5'Flank|DPH2_ENST00000255108.3_5'Flank|DPH2_ENST00000396758.2_5'Flank|IPO13_ENST00000372339.3_Missense_Mutation_p.A109S	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	891					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A891S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TATCCTGTTCGCCCTGAACAA	0.622																																																1	Substitution - Missense(1)	kidney(1)											75	73	74					1																	44433044		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2671G>T	1.37:g.44433044G>T	ENSP00000361418:p.Ala891Ser		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.724373	0.30593	.	.	ENSG00000117408	ENST00000372343;ENST00000372339	.	.	.	4.7	3.74	0.42951	.	0.429421	0.25335	N	0.031419	T	0.41328	0.1154	N	0.21373	0.66	0.38263	D	0.941925	B;B	0.27140	0.087;0.169	B;B	0.27380	0.079;0.078	T	0.38628	-0.9652	9	0.23891	T	0.37	-21.2926	12.1205	0.53889	0.0:0.0:0.6924:0.3076	.	109;891	Q5T4X2;O94829	.;IPO13_HUMAN	S	891;109	.	ENSP00000361414:A109S	A	+	1	0	IPO13	44205631	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.452000	0.35156	2.136000	0.66102	0.394000	0.25966	GCC		0.622	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		T	44433044	G	T	44433044	3	4	139	1	0	0	0	0	1	0	0	0	7796	1087	38	4	2745	4	IPO13	1	44433044	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10		44433044	204817577	1	8210											
MOBKL2C	148932	broad.mit.edu	37	1	47075867	47075867	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:47075867A>T	ENST00000319928.3	-	3	658	c.428T>A	c.(427-429)tTc>tAc	p.F143Y	MOB3C_ENST00000271139.8_Missense_Mutation_p.F195Y|MOB3C_ENST00000371940.1_Missense_Mutation_p.F166Y|MOB3C_ENST00000477318.1_5'UTR|MKNK1_ENST00000545730.1_Intron	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	143							metal ion binding (GO:0046872)	p.F195Y(1)									GTTCTTAGGGAAGGGAACTCC	0.552																																																1	Substitution - Missense(1)	kidney(1)											59	56	57					1																	47075867		2203	4300	6503	SO:0001583	missense	0			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.428T>A	1.37:g.47075867A>T	ENSP00000315113:p.Phe143Tyr		D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	CCDS540.1	.	.	.	.	.	.	.	.	.	.	A	34	5.356331	0.95854	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	M	0.81802	2.56	0.80722	D	1	D	0.62365	0.991	P	0.61397	0.888	T	0.80439	-0.1382	9	0.56958	D	0.05	-30.3237	14.2729	0.66162	1.0:0.0:0.0:0.0	.	143	Q70IA8	MOB3C_HUMAN	Y	143;195;166	.	ENSP00000271139:F195Y	F	-	2	0	MOBKL2C	46848454	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.327000	0.96396	2.024000	0.59613	0.379000	0.24179	TTC		0.552	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		T	47075867	A	T	47075867	3	4	139	1	0	0	0	0	1	0	0	0	9688	246	9	5	230	5	MOBKL2C	1	47075867	Missense_Mutation	SNP	A	TCGA-B0-4811-01A-01D-1501-10	2642823	47075867	202174754	2	8211											
NOTCH2	4853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120497758	120497758	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:120497758G>A	ENST00000256646.2	-	13	2343	c.2124C>T	c.(2122-2124)tgC>tgT	p.C708C		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	708	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C708C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCCTCGGGGCATATACAGC	0.532			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - coding silent(1)	kidney(1)											181	136	151					1																	120497758		2203	4300	6503	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2124C>T	1.37:g.120497758G>A			Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.532	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120497758	G	A	120497758	2	1	139	1	0	0	0	0	0	0	0	1	10550	1195	42	2		2	NOTCH2	1	120497758	Silent	SNP	G	TCGA-B0-4811-01A-01D-1501-10	73421891	120497758	128752863	3	8212											
FLG2	388698	hgsc.bcm.edu;ucsc.edu	37	1	152327665	152327670	+	In_Frame_Del	DEL	CCCGAA	CCCGAA	-	rs12738471|rs371756979	byFrequency	TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	CCCGAA	CCCGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:152327665_152327670delCCCGAA	ENST00000388718.5	-	3	2664_2669	c.2592_2597delTTCGGG	c.(2590-2598)agttcggga>aga	p.864_866SSG>R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	864	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGTCTGTCCCGAACTTGACCCAT	0.5																																																0										8,4250		4,0,2125						-8.8	0			345	86,8154		27,32,4061	no	coding	FLG2	NM_001014342.2		31,32,6186	A1A1,A1R,RR		1.0437,0.1879,0.7521				94,12404				SO:0001651	inframe_deletion	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2592_2597delTTCGGG	1.37:g.152327665_152327670delCCCGAA	ENSP00000373370:p.Ser864_Gly866delinsArg		Q9H4U1	In_Frame_Del	DEL	ENST00000388718.5	37	CCDS30861.1																																																																																				0.5	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		-	152327670	CCCGAA	-	152327665	7	5	139	1	0	1	0	1	0	0	0	0	5925	855	30	0	4582	0	FLG2	1	152327665	In_Frame_Del	DEL	CCCGAA	TCGA-B0-4811-01A-01D-1501-10	31829907	152327665	96922956	4	8213											
GATAD2B	57459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153782691	153782691	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:153782691G>A	ENST00000368655.4	-	11	1987	c.1744C>T	c.(1744-1746)Ccc>Tcc	p.P582S		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	582					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P582S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATAGACCGGGGAGGGATCATG	0.493																																																1	Substitution - Missense(1)	kidney(1)											148	130	137					1																	153782691		2203	4300	6503	SO:0001583	missense	57459			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1744C>T	1.37:g.153782691G>A	ENSP00000357644:p.Pro582Ser		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449479	0.63178	.	.	ENSG00000143614	ENST00000368655	T	0.30981	1.51	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	L	0.28344	0.845	0.58432	D	0.999999	B	0.13594	0.008	B	0.12156	0.007	T	0.07578	-1.0765	10	0.09843	T	0.71	-0.3926	18.0328	0.89290	0.0:0.0:1.0:0.0	.	582	Q8WXI9	P66B_HUMAN	S	582	ENSP00000357644:P582S	ENSP00000357644:P582S	P	-	1	0	GATAD2B	152049315	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.477000	0.73591	2.783000	0.95769	0.655000	0.94253	CCC		0.493	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		A	153782691	G	A	153782691	3	1	139	1	0	0	0	0	1	0	0	0	6263	1174	41	2	41	2	GATAD2B	1	153782691	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	1455026	153782691	95467930	5	8214											
C1orf114	57821	hgsc.bcm.edu;ucsc.edu	37	1	169394116	169394117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:169394116_169394117insC	ENST00000367806.3	-	2	201_202	c.49_50insG	c.(49-51)gatfs	p.D17fs	CCDC181_ENST00000545005.1_Frame_Shift_Ins_p.D17fs|CCDC181_ENST00000367805.3_Frame_Shift_Ins_p.D17fs|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	17						nucleus (GO:0005634)											TTCAAAGTCATCTTCGTATTCT	0.287																																																0																																										SO:0001589	frameshift_variant	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.50dupG	1.37:g.169394117_169394117dupC	ENSP00000356780:p.Asp17fs		O60780|Q53FD5|Q5TID9|Q8TC48	Frame_Shift_Ins	INS	ENST00000367806.3	37																																																																																					0.287	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		C	169394117	-	C	169394116	7	5	139	1	0	1	1	0	0	0	0	0	1989	1435	50	0	1496	0	C1orf114	1	169394116	Frame_Shift_Ins	INS	-	TCGA-B0-4811-01A-01D-1501-10	15611425	169394116	79856505	6	8215											
USH2A	7399	hgsc.bcm.edu;ucsc.edu	37	1	216595674	216595674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:216595674delT	ENST00000307340.3	-	2	391	c.5delA	c.(4-6)aatfs	p.N2fs	USH2A_ENST00000366943.2_Frame_Shift_Del_p.N2fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.N2fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACTGGGCAATTCATGTTTAC	0.398										HNSCC(13;0.011)																																						0													38	40	39					1																	216595674		2203	4300	6503	SO:0001589	frameshift_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5delA	1.37:g.216595674delT	ENSP00000305941:p.Asn2fs		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Del	DEL	ENST00000307340.3	37	CCDS31025.1																																																																																				0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		-	216595674	T	-	216595674	7	5	139	1	0	1	0	1	0	0	0	0	17041	1493	52	0	15901	0	USH2A	1	216595674	Frame_Shift_Del	DEL	T	TCGA-B0-4811-01A-01D-1501-10	47201558	216595674	32654947	7	8216											
ZNF496	84838	broad.mit.edu;ucsc.edu	37	1	247463877	247463877	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:247463877G>C	ENST00000294753.4	-	9	2172	c.1708C>G	c.(1708-1710)Cgc>Ggc	p.R570G	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R606G	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	570					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R570G(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGCTCGTGGCGGAGGAGGTCA	0.652																																																1	Substitution - Missense(1)	kidney(1)											57	59	58					1																	247463877		2203	4300	6503	SO:0001583	missense	84838			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1708C>G	1.37:g.247463877G>C	ENSP00000294753:p.Arg570Gly		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379470	0.61845	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.56103	0.48;0.48	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000142	T	0.68805	0.3041	M	0.73217	2.22	0.32052	N	0.596854	D;D	0.71674	0.998;0.99	D;P	0.65987	0.94;0.894	T	0.75202	-0.3401	10	0.54805	T	0.06	-40.7577	14.6891	0.69070	0.0:0.0:1.0:0.0	.	606;570	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	G	570;606	ENSP00000294753:R570G;ENSP00000355454:R606G	ENSP00000294753:R570G	R	-	1	0	ZNF496	245530500	0.000000	0.05858	1.000000	0.80357	0.726000	0.41606	-0.130000	0.10498	2.388000	0.81334	0.591000	0.81541	CGC		0.652	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		C	247463877	G	C	247463877	3	2	139	1	0	0	0	0	1	0	0	0	17950	1116	39	4	59	4	ZNF496	1	247463877	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	30868203	247463877	1786744	8	8217											
GREB1	9687	broad.mit.edu;hgsc.bcm.edu	37	2	11767208	11767208	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:11767208T>A	ENST00000381486.2	+	25	4727	c.4427T>A	c.(4426-4428)aTg>aAg	p.M1476K	GREB1_ENST00000234142.5_Missense_Mutation_p.M1476K|GREB1_ENST00000396123.1_Missense_Mutation_p.M474K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1476						integral component of membrane (GO:0016021)		p.M1476K(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CACCAGTACATGGGCTTCCAC	0.582																																					Ovarian(39;850 945 2785 23371 33093)											1	Substitution - Missense(1)	kidney(1)											62	69	66					2																	11767208		2121	4227	6348	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4427T>A	2.37:g.11767208T>A	ENSP00000370896:p.Met1476Lys		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048052	0.75846	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.51574	0.7;0.7;0.7	5.58	5.58	0.84498	.	0.169448	0.64402	D	0.000009	T	0.51941	0.1704	M	0.68317	2.08	0.80722	D	1	B	0.20052	0.041	B	0.28849	0.095	T	0.52638	-0.8549	10	0.62326	D	0.03	-34.088	15.738	0.77863	0.0:0.0:0.0:1.0	.	1476	Q4ZG55	GREB1_HUMAN	K	1476;1476;474	ENSP00000370896:M1476K;ENSP00000234142:M1476K;ENSP00000379429:M474K	ENSP00000234142:M1476K	M	+	2	0	GREB1	11684659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.544000	0.82117	2.120000	0.65058	0.533000	0.62120	ATG		0.582	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11767208	T	A	11767208	3	1	139	1	0	0	0	0	1	0	0	0	6762	1464	51	5	4629	5	GREB1	2	11767208	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10		11767208	231432165	9	8218											
ADCY3	109	broad.mit.edu;ucsc.edu	37	2	25050900	25050900	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:25050900A>T	ENST00000260600.5	-	13	3154	c.2303T>A	c.(2302-2304)cTg>cAg	p.L768Q	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron|RP11-443B20.1_ENST00000606114.1_RNA	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	768					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.L768Q(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GACCTGCACCAGCATGATGGT	0.587											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											107	82	91					2																	25050900		2203	4300	6503	SO:0001583	missense	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2303T>A	2.37:g.25050900A>T	ENSP00000260600:p.Leu768Gln	776	B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.960771	0.92791	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T	0.73469	-0.75;-0.75;-0.75	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.74183	0.3683	L	0.56769	1.78	0.80722	D	1	P;P	0.50617	0.874;0.937	B;P	0.45138	0.391;0.471	T	0.77744	-0.2473	10	0.56958	D	0.05	.	14.9788	0.71296	1.0:0.0:0.0:0.0	.	768;768	B7ZLX9;O60266	.;ADCY3_HUMAN	Q	768;743;107;111	ENSP00000260600:L768Q;ENSP00000402008:L107Q;ENSP00000410972:L111Q	ENSP00000260600:L768Q	L	-	2	0	ADCY3	24904404	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.043000	0.93799	2.200000	0.70718	0.459000	0.35465	CTG		0.587	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			T	25050900	A	T	25050900	3	4	139	1	0	0	0	0	1	0	0	0	295	188	7	5	1167	5	ADCY3	2	25050900	Missense_Mutation	SNP	A	TCGA-B0-4811-01A-01D-1501-10	13283692	25050900	218148473	10	8219											
PAPOLG	64895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61021866	61021866	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:61021866delT	ENST00000238714.3	+	20	2260	c.2011delT	c.(2011-2013)tttfs	p.F671fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	671					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TGAATCAACATTTAAGGACCC	0.303																																					GBM(183;1497 2932 21839 46797)											0													65	68	67					2																	61021866		2202	4292	6494	SO:0001589	frameshift_variant	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.2011delT	2.37:g.61021866delT	ENSP00000238714:p.Phe671fs		B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Frame_Shift_Del	DEL	ENST00000238714.3	37	CCDS1863.1																																																																																				0.303	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		-	61021866	T	-	61021866	7	5	139	1	0	1	0	1	0	0	0	0	11433	1493	52	0	2089	0	PAPOLG	2	61021866	Frame_Shift_Del	DEL	T	TCGA-B0-4811-01A-01D-1501-10	35970966	61021866	182177507	11	8220											
ALMS1	7840	broad.mit.edu	37	2	73680749	73680749	+	Silent	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:73680749A>G	ENST00000264448.6	+	8	7203	c.7092A>G	c.(7090-7092)gaA>gaG	p.E2364E	ALMS1_ENST00000377715.1_Silent_p.E2364E|ALMS1_ENST00000409009.1_Silent_p.E2322E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2364					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E2364E(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCTACAGGAAGCAGAGAGCA	0.418																																																1	Substitution - coding silent(1)	kidney(1)											71	65	67					2																	73680749		1879	4119	5998	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7092A>G	2.37:g.73680749A>G			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.418	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		G	73680749	A	G	73680749	2	3	139	1	0	0	0	0	0	0	0	1	535	69	3	3		3	ALMS1	2	73680749	Silent	SNP	A	TCGA-B0-4811-01A-01D-1501-10	12658883	73680749	169518624	12	8221											
REV1	51455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	100055089	100055089	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:100055089C>G	ENST00000258428.3	-	6	1415	c.1187G>C	c.(1186-1188)aGg>aCg	p.R396T	REV1_ENST00000393445.3_Missense_Mutation_p.R396T|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	396					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.R396T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGTGCAGACCTGCCTGTTTT	0.343								Direct reversal of damage																																								1	Substitution - Missense(1)	kidney(1)											66	73	71					2																	100055089		2201	4300	6501	SO:0001583	missense	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1187G>C	2.37:g.100055089C>G	ENSP00000258428:p.Arg396Thr		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.229988	0.58777	.	.	ENSG00000135945	ENST00000393445;ENST00000258428;ENST00000450415	T;T;T	0.46451	1.52;1.52;0.87	5.99	5.99	0.97316	.	0.154015	0.64402	D	0.000020	T	0.52386	0.1731	M	0.70275	2.135	0.43259	D	0.995196	P;P;P	0.49253	0.921;0.651;0.646	P;B;B	0.50590	0.645;0.15;0.196	T	0.49283	-0.8956	10	0.38643	T	0.18	.	12.8984	0.58111	0.0:0.9261:0.0:0.0739	.	375;396;396	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	T	396;396;34	ENSP00000377091:R396T;ENSP00000258428:R396T;ENSP00000414875:R34T	ENSP00000258428:R396T	R	-	2	0	REV1	99421521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.255000	0.51484	2.840000	0.97914	0.655000	0.94253	AGG		0.343	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		G	100055089	C	G	100055089	3	3	139	1	0	0	0	0	1	0	0	0	13245	681	24	4	2640	4	REV1	2	100055089	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	26374340	100055089	143144284	13	8222											
CKAP2L	150468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	113509843	113509843	+	Splice_Site	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:113509843C>A	ENST00000302450.6	-	5	1681		c.e5+1		CKAP2L_ENST00000541405.1_Splice_Site	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.?(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TCTTCACTTACCCCTTCGATG	0.363																																																1	Unknown(1)	kidney(1)											212	210	211					2																	113509843		2203	4300	6503	SO:0001630	splice_region_variant	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1602+1G>T	2.37:g.113509843C>A			A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Splice_Site	SNP	ENST00000302450.6	37	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262847	0.59431	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1302	0.86724	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CKAP2L	113226314	0.999000	0.42202	0.976000	0.42696	0.695000	0.40330	4.494000	0.60347	2.648000	0.89879	0.585000	0.79938	.		0.363	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	Intron	A	113509843	C	A	113509843	5	1	139	1	0	0	0	0	0	0	1	0	3445	521	18	4	654	4	CKAP2L	2	113509843	Splice_Site	SNP	C	TCGA-B0-4811-01A-01D-1501-10	13454754	113509843	129689530	14	8223											
SCTR	6344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	120204412	120204412	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:120204412A>G	ENST00000019103.5	-	11	1330	c.1063T>C	c.(1063-1065)Tac>Cac	p.Y355H		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	355					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.Y355H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AAGACGATGTAGTGGATGCCA	0.582																																																1	Substitution - Missense(1)	kidney(1)											97	96	96					2																	120204412		2203	4300	6503	SO:0001583	missense	6344				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.1063T>C	2.37:g.120204412A>G	ENSP00000019103:p.Tyr355His		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657330	0.88154	.	.	ENSG00000080293	ENST00000019103	T	0.51325	0.71	5.34	5.34	0.76211	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000048	T	0.70902	0.3277	M	0.83603	2.65	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.76024	-0.3110	10	0.87932	D	0	.	14.6547	0.68825	1.0:0.0:0.0:0.0	.	355	P47872	SCTR_HUMAN	H	355	ENSP00000019103:Y355H	ENSP00000019103:Y355H	Y	-	1	0	SCTR	119920882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.071000	0.76770	2.240000	0.73641	0.533000	0.62120	TAC		0.582	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			G	120204412	A	G	120204412	3	3	139	1	0	0	0	0	1	0	0	0	13949	420	15	3	271	3	SCTR	2	120204412	Missense_Mutation	SNP	A	TCGA-B0-4811-01A-01D-1501-10	6694569	120204412	122994961	15	8224											
MGAT5	4249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	135012082	135012082	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:135012082G>A	ENST00000409645.1	+	2	360	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MGAT5_ENST00000281923.2_Silent_p.Q36Q|MGAT5_ENST00000468758.1_3'UTR			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	36					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.Q36Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CCATCCAGCAGCGAACTCAGC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											119	104	109					2																	135012082		2203	4300	6503	SO:0001819	synonymous_variant	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.108G>A	2.37:g.135012082G>A			D3DP70	Silent	SNP	ENST00000409645.1	37	CCDS2171.1																																																																																				0.512	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		A	135012082	G	A	135012082	2	1	139	1	0	0	0	0	0	0	0	1	9550	962	34	2		2	MGAT5	2	135012082	Silent	SNP	G	TCGA-B0-4811-01A-01D-1501-10	14807670	135012082	108187291	16	8225											
BAZ2B	29994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160245882	160245882	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:160245882C>G	ENST00000392783.2	-	21	3685	c.3190G>C	c.(3190-3192)Gaa>Caa	p.E1064Q	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1030Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1028Q|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E964Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1064					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1064Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CACATGTCTTCATTAGGCTTC	0.333																																																1	Substitution - Missense(1)	kidney(1)											245	225	231					2																	160245882		1854	4105	5959	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3190G>C	2.37:g.160245882C>G	ENSP00000376534:p.Glu1064Gln		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.877326|4.877326	0.91664|0.91664	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000294905	T;T;T;T|.	0.29917|.	1.55;1.55;1.55;2.28|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.000000|.	0.38058|.	U|.	0.001839|.	T|.	0.75982|.	0.3924|.	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.997|.	T|.	0.74881|.	-0.3513|.	10|.	0.87932|.	D|.	0|.	-16.9736|-16.9736	19.2239|19.2239	0.93810|0.93810	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1028;1064|.	Q9UIF8-5;Q9UIF8|.	.;BAZ2B_HUMAN|.	Q|S	1028;1064;1030;964|124	ENSP00000376533:E1028Q;ENSP00000376534:E1064Q;ENSP00000348087:E1030Q;ENSP00000339670:E964Q|.	ENSP00000339670:E964Q|.	E|X	-|-	1|2	0|2	BAZ2B|BAZ2B	159954128|159954128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.562000|2.562000	0.86427|0.86427	0.591000|0.591000	0.81541|0.81541	GAA|TGA		0.333	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			G	160245882	C	G	160245882	3	3	139	1	0	0	0	0	1	0	0	0	1332	835	29	4	3384	4	BAZ2B	2	160245882	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	25233800	160245882	82953491	17	8226											
KCNH7	90134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	163241253	163241253	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:163241253T>G	ENST00000332142.5	-	13	3006	c.2907A>C	c.(2905-2907)gaA>gaC	p.E969D		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	969					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E969D(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGGCACTGTTTCTTCAAAAT	0.438																																					GBM(196;1492 2208 17507 24132 45496)											1	Substitution - Missense(1)	kidney(1)											176	170	172					2																	163241253		2203	4299	6502	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2907A>C	2.37:g.163241253T>G	ENSP00000331727:p.Glu969Asp		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	7.200	0.593207	0.13875	.	.	ENSG00000184611	ENST00000332142	D	0.98602	-5.02	5.3	1.49	0.22878	.	0.431030	0.27768	N	0.017939	D	0.91304	0.7258	N	0.08118	0	0.44825	D	0.997839	B	0.12630	0.006	B	0.08055	0.003	T	0.81600	-0.0859	10	0.13108	T	0.6	.	4.9726	0.14123	0.0:0.2095:0.2754:0.5151	.	969	Q9NS40	KCNH7_HUMAN	D	969	ENSP00000331727:E969D	ENSP00000331727:E969D	E	-	3	2	KCNH7	162949499	0.991000	0.36638	0.275000	0.24674	0.645000	0.38454	1.246000	0.32803	0.077000	0.16863	-0.313000	0.08912	GAA		0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		G	163241253	T	G	163241253	3	3	139	1	0	0	0	0	1	0	0	0	8039	1838	64	5	699	5	KCNH7	2	163241253	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	2995371	163241253	79958120	18	8227											
ABCB11	8647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	169869900	169869900	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:169869900T>C	ENST00000263817.6	-	5	395	c.271A>G	c.(271-273)Att>Gtt	p.I91V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	91	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.I91V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCGTAGTCAATAAAAACATCT	0.428																																																1	Substitution - Missense(1)	kidney(1)											193	184	187					2																	169869900		1890	4129	6019	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.271A>G	2.37:g.169869900T>C	ENSP00000263817:p.Ile91Val		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	T	1.340	-0.594352	0.03771	.	.	ENSG00000073734	ENST00000263817	T	0.80123	-1.34	5.41	2.95	0.34219	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.091654	0.64402	N	0.000001	T	0.58836	0.2150	N	0.11284	0.12	0.50171	D	0.999858	B	0.09022	0.002	B	0.17979	0.02	T	0.45818	-0.9235	10	0.06891	T	0.86	.	9.981	0.41813	0.0:0.1402:0.0:0.8598	.	91	O95342	ABCBB_HUMAN	V	91	ENSP00000263817:I91V	ENSP00000263817:I91V	I	-	1	0	ABCB11	169578146	1.000000	0.71417	0.991000	0.47740	0.636000	0.38137	1.689000	0.37700	0.327000	0.23409	0.454000	0.30748	ATT		0.428	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		C	169869900	T	C	169869900	3	2	139	1	0	0	0	0	1	0	0	0	42	1406	49	3	3790	3	ABCB11	2	169869900	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	6628647	169869900	73329473	19	8228											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179516214	179516219	+	In_Frame_Del	DEL	CACCAG	CACCAG	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	CACCAG	CACCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:179516214_179516219delCACCAG	ENST00000591111.1	-	162	35211_35216	c.34987_34992delCTGGTG	c.(34987-34992)ctggtgdel	p.LV11663del	TTN_ENST00000342992.6_In_Frame_Del_p.LV10736del|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.LV13170del|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11663	Glu-rich.|Pro-rich.				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)			TTTTGGGAACCACCAGAGGCACCTTC	0.466																																																0																																										SO:0001651	inframe_deletion	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34987_34992delCTGGTG	2.37:g.179516214_179516219delCACCAG	ENSP00000465570:p.Leu11663_Val11664del		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	In_Frame_Del	DEL	ENST00000591111.1	37																																																																																					0.466	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179516219	CACCAG	-	179516214	7	5	139	1	0	1	0	1	0	0	0	0	16740	581	21	0	68382	0	TTN	2	179516214	In_Frame_Del	DEL	CACCAG	TCGA-B0-4811-01A-01D-1501-10	9646314	179516214	63683159	20	8229											
USP37	57695	broad.mit.edu;ucsc.edu	37	2	219353073	219353073	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:219353073G>T	ENST00000258399.3	-	15	1956	c.1544C>A	c.(1543-1545)cCa>cAa	p.P515Q	USP37_ENST00000415516.1_Missense_Mutation_p.P443Q|USP37_ENST00000475553.1_5'Flank|USP37_ENST00000454775.1_Missense_Mutation_p.P515Q|USP37_ENST00000418019.1_Missense_Mutation_p.P515Q	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	515	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.P515Q(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AGGAGGGAGTGGTTTTTTCCT	0.323																																																1	Substitution - Missense(1)	kidney(1)											115	116	116					2																	219353073		2203	4300	6503	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1544C>A	2.37:g.219353073G>T	ENSP00000258399:p.Pro515Gln		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073828	0.76415	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.43688	0.94;0.94;0.96;0.94	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.184108	0.47093	D	0.000249	T	0.25531	0.0621	N	0.12182	0.205	0.80722	D	1	P;P	0.41265	0.744;0.68	B;B	0.38880	0.272;0.284	T	0.09292	-1.0681	10	0.72032	D	0.01	-10.9939	10.2975	0.43633	0.1223:0.0:0.8777:0.0	.	443;515	Q86T82-2;Q86T82	.;UBP37_HUMAN	Q	515;515;443;515	ENSP00000258399:P515Q;ENSP00000393662:P515Q;ENSP00000400902:P443Q;ENSP00000396585:P515Q	ENSP00000258399:P515Q	P	-	2	0	USP37	219061317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.437000	0.59955	2.587000	0.87381	0.655000	0.94253	CCA		0.323	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		T	219353073	G	T	219353073	3	4	139	1	0	0	0	0	1	0	0	0	17073	1348	47	4	1443	4	USP37	2	219353073	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	39836859	219353073	23846300	21	8230											
RNF25	64320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219532706	219532706	+	Splice_Site	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:219532706T>C	ENST00000295704.2	-	5	728		c.e5-2			NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTAAGATCCTGGAGGAAGAG	0.517																																																1	Unknown(1)	kidney(1)											120	125	124					2																	219532706		2203	4300	6503	SO:0001630	splice_region_variant	64320				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.288-2A>G	2.37:g.219532706T>C			A8K0D6|Q53HQ5|Q9H874	Splice_Site	SNP	ENST00000295704.2	37	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073977	0.55646	.	.	ENSG00000163481	ENST00000295704	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0405	0.71788	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF25	219240950	0.998000	0.40836	0.999000	0.59377	0.680000	0.39746	2.998000	0.49465	2.225000	0.72522	0.379000	0.24179	.		0.517	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453	Intron	C	219532706	T	C	219532706	5	2	139	1	0	0	0	0	0	0	1	0	13491	1594	55	3	1117	3	RNF25	2	219532706	Splice_Site	SNP	T	TCGA-B0-4811-01A-01D-1501-10	179633	219532706	23666667	22	8231											
UGT1A7	54577	broad.mit.edu;hgsc.bcm.edu	37	2	234591121	234591121	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:234591121G>A	ENST00000373426.3	+	1	538	c.538G>A	c.(538-540)Ggt>Agt	p.G180S	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	180					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.G180S(1)|p.G180C(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TCTTGAAGAAGGTGCACAGTG	0.483																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											162	168	166					2																	234591121		2203	4300	6503	SO:0001583	missense	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.538G>A	2.37:g.234591121G>A	ENSP00000362525:p.Gly180Ser		B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909648	0.33721	.	.	ENSG00000244122	ENST00000373426	T	0.05925	3.37	4.34	1.45	0.22620	.	.	.	.	.	T	0.03739	0.0106	N	0.16708	0.43	0.09310	N	1	B;B	0.20368	0.044;0.044	B;B	0.27887	0.084;0.084	T	0.46359	-0.9197	9	0.06099	T	0.92	.	8.303	0.32025	0.3222:0.0:0.6778:0.0	.	180;180	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	S	180	ENSP00000362525:G180S	ENSP00000362525:G180S	G	+	1	0	UGT1A7	234255860	0.000000	0.05858	0.122000	0.21767	0.861000	0.49209	0.723000	0.25939	0.469000	0.27268	0.491000	0.48974	GGT		0.483	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		A	234591121	G	A	234591121	3	1	139	1	0	0	0	0	1	0	0	0	16955	1000	35	2	540	2	UGT1A7	2	234591121	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	15058415	234591121	8608252	23	8232											
ZNF621	285268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	40574189	40574189	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr3:40574189C>A	ENST00000339296.5	+	5	1380	c.928C>A	c.(928-930)Cag>Aag	p.Q310K	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.Q310K|ZNF621_ENST00000431278.1_Missense_Mutation_p.Q199K|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q310K(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CATTCAGCATCAGAGAGTTCA	0.428																																																1	Substitution - Missense(1)	kidney(1)											77	74	75					3																	40574189		2203	4300	6503	SO:0001583	missense	285268			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"Zinc fingers, C2H2-type", "-"	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.928C>A	3.37:g.40574189C>A	ENSP00000340841:p.Gln310Lys		Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.260892	0.39995	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.07216	3.21;3.21;3.21	3.43	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10294	0.0252	N	0.05554	-0.025	0.80722	D	1	P;D	0.54047	0.952;0.964	P;P	0.58454	0.647;0.839	T	0.35624	-0.9781	9	0.66056	D	0.02	.	13.1945	0.59730	0.0:1.0:0.0:0.0	.	199;310	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	K	310;310;199	ENSP00000386051:Q310K;ENSP00000340841:Q310K;ENSP00000413236:Q199K	ENSP00000340841:Q310K	Q	+	1	0	ZNF621	40549193	0.000000	0.05858	0.994000	0.49952	0.929000	0.56500	0.384000	0.20668	2.222000	0.72286	0.650000	0.86243	CAG		0.428	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		A	40574189	C	A	40574189	3	1	139	1	0	0	0	0	1	0	0	0	18050	827	29	4	942	4	ZNF621	3	40574189	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10		40574189	157448241	24	8233											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47127749	47127749	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr3:47127749delA	ENST00000409792.3	-	11	5375	c.5333delT	c.(5332-5334)ttgfs	p.L1779fs	snoU13_ENST00000516129.1_RNA|SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1779					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GATCCACAACAAAGACAGCCC	0.498			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													138	119	126					3																	47127749		2203	4300	6503	SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5333delT	3.37:g.47127749delA	ENSP00000386759:p.Leu1779fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																				0.498	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47127749	A	-	47127749	7	5	139	1	0	1	0	1	0	0	0	0	14137	131	5	0	2405	0	SETD2	3	47127749	Frame_Shift_Del	DEL	A	TCGA-B0-4811-01A-01D-1501-10	6553560	47127749	150894681	25	8234											
PLXNB1	5364	broad.mit.edu	37	3	48461366	48461366	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr3:48461366C>G	ENST00000358536.4	-	11	2598	c.2329G>C	c.(2329-2331)Gac>Cac	p.D777H	PLXNB1_ENST00000296440.6_Missense_Mutation_p.D777H|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	777	Pro-rich.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.D777H(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTCTGAAGTCAGTGGGGGCA	0.657																																																1	Substitution - Missense(1)	kidney(1)											20	24	22					3																	48461366		2203	4299	6502	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2329G>C	3.37:g.48461366C>G	ENSP00000351338:p.Asp777His		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301877	0.40694	.	.	ENSG00000164050	ENST00000296440;ENST00000358536	T;T	0.03212	4.01;4.01	4.55	4.55	0.56014	.	2.666490	0.01316	N	0.010761	T	0.04497	0.0123	N	0.08118	0	0.80722	D	1	P	0.34462	0.454	B	0.36959	0.237	T	0.41998	-0.9477	10	0.44086	T	0.13	.	14.4689	0.67501	0.0:1.0:0.0:0.0	.	777	O43157	PLXB1_HUMAN	H	777	ENSP00000296440:D777H;ENSP00000351338:D777H	ENSP00000296440:D777H	D	-	1	0	PLXNB1	48436370	0.002000	0.14202	0.244000	0.24202	0.328000	0.28507	0.740000	0.26188	2.072000	0.62099	0.455000	0.32223	GAC		0.657	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		G	48461366	C	G	48461366	3	3	139	1	0	0	0	0	1	0	0	0	12125	826	29	4	4190	4	PLXNB1	3	48461366	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	1333617	48461366	149561064	26	8235											
WDR52	55779	broad.mit.edu	37	3	113128137	113128137	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr3:113128137A>G	ENST00000295868.2	-	7	868	c.706T>C	c.(706-708)Ttt>Ctt	p.F236L	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.F236L|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2												p.F236L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTGTAGTTAAAGTCCACATAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											113	106	108					3																	113128137		2203	4300	6503	SO:0001583	missense	55779																														ENST00000295868.2:c.706T>C	3.37:g.113128137A>G	ENSP00000295868:p.Phe236Leu			Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071270	0.76301	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.09350	4.68;2.99	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.40546	0.1121	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.41324	-0.9515	9	0.72032	D	0.01	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	236	Q96MT7	WDR52_HUMAN	L	236	ENSP00000377428:F236L;ENSP00000295868:F236L	ENSP00000295868:F236L	F	-	1	0	WDR52	114610827	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	8.642000	0.91036	2.317000	0.78254	0.460000	0.39030	TTT		0.383	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			G	113128137	A	G	113128137	3	3	139	1	0	0	0	0	1	0	0	0	17309	72	3	3	4989	3	WDR52	3	113128137	Missense_Mutation	SNP	A	TCGA-B0-4811-01A-01D-1501-10	64666771	113128137	84894293	27	8236											
PIK3R4	30849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130452841	130452841	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr3:130452841T>A	ENST00000356763.3	-	4	1558	c.1001A>T	c.(1000-1002)gAa>gTa	p.E334V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	334					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E334V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAGAAACGTTTCCTTGGCAAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											101	102	102					3																	130452841		2203	4300	6503	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1001A>T	3.37:g.130452841T>A	ENSP00000349205:p.Glu334Val		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987967	0.53934	.	.	ENSG00000196455	ENST00000356763	T	0.05925	3.37	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.049316	0.85682	D	0.000000	T	0.06690	0.0171	N	0.25890	0.77	0.80722	D	1	B	0.15141	0.012	B	0.10450	0.005	T	0.40251	-0.9573	10	0.30078	T	0.28	-34.5456	16.8061	0.85666	0.0:0.0:0.0:1.0	.	334	Q99570	PI3R4_HUMAN	V	334	ENSP00000349205:E334V	ENSP00000349205:E334V	E	-	2	0	PIK3R4	131935531	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	GAA		0.428	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		A	130452841	T	A	130452841	3	1	139	1	0	0	0	0	1	0	0	0	11923	1783	62	5	3143	5	PIK3R4	3	130452841	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	17324704	130452841	67569589	28	8237											
TBC1D1	23216	broad.mit.edu;ucsc.edu	37	4	38023333	38023333	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr4:38023333A>T	ENST00000261439.4	+	6	1559	c.1204A>T	c.(1204-1206)Ata>Tta	p.I402L	TBC1D1_ENST00000508802.1_Missense_Mutation_p.I402L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	402	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.I402L(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTGTGAGAGGATAGAGGGTGA	0.557																																																1	Substitution - Missense(1)	kidney(1)											32	30	31					4																	38023333		2203	4300	6503	SO:0001583	missense	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1204A>T	4.37:g.38023333A>T	ENSP00000261439:p.Ile402Leu		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.149612|5.149612	0.94645|0.94645	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000508802;ENST00000261439;ENST00000446803	.|T;T;T	.|0.28895	.|2.84;3.25;1.59	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.51363|0.51363	0.1670|0.1670	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.998;0.998;0.985;0.998	.|D;D;D;D	.|0.77557	.|0.966;0.99;0.952;0.966	T|T	0.48068|0.48068	-0.9067|-0.9067	5|10	.|0.48119	.|T	.|0.1	-23.0355|-23.0355	16.0742|16.0742	0.80958|0.80958	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|402;402;134;402	.|B9A6J6;E9PGH8;Q6PJJ8;Q86TI0	.|.;.;.;TBCD1_HUMAN	V|L	49|402;402;273	.|ENSP00000423651:I402L;ENSP00000261439:I402L;ENSP00000396877:I273L	.|ENSP00000261439:I402L	D|I	+|+	2|1	0|0	TBC1D1|TBC1D1	37699728|37699728	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.982000|0.982000	0.71751|0.71751	8.932000|8.932000	0.92897|0.92897	2.204000|2.204000	0.70986|0.70986	0.482000|0.482000	0.46254|0.46254	GAT|ATA		0.557	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		T	38023333	A	T	38023333	3	4	139	1	0	0	0	0	1	0	0	0	15602	333	12	5	1222	5	TBC1D1	4	38023333	Missense_Mutation	SNP	A	TCGA-B0-4811-01A-01D-1501-10		38023333	153130943	29	8238											
TECRL	253017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	65147225	65147225	+	Silent	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr4:65147225A>G	ENST00000381210.3	-	10	995	c.885T>C	c.(883-885)ttT>ttC	p.F295F	TECRL_ENST00000507440.1_Silent_p.F295F	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	295					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.F295F(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAACCAGGAAAAACATCCATG	0.338																																																1	Substitution - coding silent(1)	kidney(1)											104	101	102					4																	65147225		2203	4300	6503	SO:0001819	synonymous_variant	253017			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.885T>C	4.37:g.65147225A>G				Silent	SNP	ENST00000381210.3	37	CCDS33990.1																																																																																				0.338	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		G	65147225	A	G	65147225	2	3	139	1	0	0	0	0	0	0	0	1	15751	11	1	3		3	TECRL	4	65147225	Silent	SNP	A	TCGA-B0-4811-01A-01D-1501-10	27123892	65147225	126007051	30	8239											
NUDT12	83594	hgsc.bcm.edu;ucsc.edu	37	5	102894735	102894736	+	In_Frame_Ins	INS	-	-	CAG			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr5:102894735_102894736insCAG	ENST00000230792.2	-	3	736_737	c.640_641insCTG	c.(640-642)ggt>gCTGgt	p.213_214insA	NUDT12_ENST00000515407.1_5'Flank|NUDT12_ENST00000507423.1_In_Frame_Ins_p.195_196insA	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	213					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CGGGACTTCACCAGCATAATTA	0.391																																																0																																										SO:0001652	inframe_insertion	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.638_640dupCTG	5.37:g.102894736_102894738dupCAG	ENSP00000230792:p.Ala213_Ala213dup		B3KUW2|Q8TAL7	In_Frame_Ins	INS	ENST00000230792.2	37	CCDS4096.1																																																																																				0.391	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		CAG	102894736	-	CAG	102894735	7	5	139	1	0	1	1	0	0	0	0	0	10730	507	18	0	767	0	NUDT12	5	102894735	In_Frame_Ins	INS	-	TCGA-B0-4811-01A-01D-1501-10		102894735	78020525	31	8240											
PCDHB6	56130	hgsc.bcm.edu;ucsc.edu	37	5	140529900	140529900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr5:140529900delT	ENST00000231136.1	+	1	62	c.62delT	c.(61-63)cttfs	p.L21fs	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	21					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATTGATGCTTTGGGGAGAG	0.423																																																0													177	176	176					5																	140529900		2203	4300	6503	SO:0001589	frameshift_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.62delT	5.37:g.140529900delT	ENSP00000231136:p.Leu21fs		B2R8R9	Frame_Shift_Del	DEL	ENST00000231136.1	37	CCDS4248.1																																																																																				0.423	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		-	140529900	T	-	140529900	7	5	139	1	0	1	0	1	0	0	0	0	11548	1609	56	0	64	0	PCDHB6	5	140529900	Frame_Shift_Del	DEL	T	TCGA-B0-4811-01A-01D-1501-10	37635165	140529900	40385360	32	8241											
TREML1	340205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41117371	41117371	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:41117371G>T	ENST00000426005.2	-	6	950	c.907C>A	c.(907-909)Cca>Aca	p.P303T	TREML1_ENST00000373127.4_3'UTR|TREML1_ENST00000437044.2_Missense_Mutation_p.P192T	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	303					calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)		p.P303T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGTTAGGTGGATTCTGGGCT	0.542																																																1	Substitution - Missense(1)	kidney(1)											179	162	168					6																	41117371		2203	4300	6503	SO:0001583	missense	340205			AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"Immunoglobulin superfamily / V-set domain containing"	20434	protein-coding gene	gene with protein product	"TREM-like transcript 1"	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.907C>A	6.37:g.41117371G>T	ENSP00000402855:p.Pro303Thr		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250628	0.39797	.	.	ENSG00000161911	ENST00000373127;ENST00000437044	T	0.48522	0.81	5.17	4.29	0.51040	.	0.801721	0.11043	N	0.605885	T	0.23171	0.0560	L	0.46157	1.445	0.09310	N	1	B;B	0.22909	0.077;0.025	B;B	0.19391	0.025;0.011	T	0.20505	-1.0273	10	0.40728	T	0.16	.	10.8135	0.46562	0.0:0.0:0.8112:0.1888	.	192;303	Q86YW5-3;Q86YW5	.;TRML1_HUMAN	T	303;192	ENSP00000400405:P192T	ENSP00000362219:P303T	P	-	1	0	TREML1	41225349	0.001000	0.12720	0.122000	0.21767	0.274000	0.26718	0.773000	0.26661	1.376000	0.46267	0.655000	0.94253	CCA		0.542	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174		T	41117371	G	T	41117371	3	4	139	1	0	0	0	0	1	0	0	0	16477	1174	41	4	30	4	TREML1	6	41117371	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10		41117371	129997696	33	8242											
SLC35B2	347734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44224429	44224429	+	Silent	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:44224429C>T	ENST00000393812.3	-	2	341	c.198G>A	c.(196-198)ctG>ctA	p.L66L	SLC35B2_ENST00000393810.1_Silent_p.L66L|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_Nonsense_Mutation_p.W25*|SLC35B2_ENST00000537814.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	66					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)	p.L66L(1)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCGGTCTCCAGGTAGTTCT	0.547																																																1	Substitution - coding silent(1)	kidney(1)											123	132	129					6																	44224429		2203	4300	6503	SO:0001819	synonymous_variant	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.198G>A	6.37:g.44224429C>T			B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	c	37	6.507053	0.97620	.	.	ENSG00000157593	ENST00000538577	.	.	.	4.23	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8467	4.3706	0.11246	0.1687:0.5577:0.0:0.2735	.	.	.	.	X	25	.	ENSP00000443845:W25X	W	-	2	0	SLC35B2	44332407	0.462000	0.25791	1.000000	0.80357	0.962000	0.63368	-0.255000	0.08769	0.990000	0.38787	0.561000	0.74099	TGG		0.547	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			T	44224429	C	T	44224429	2	4	139	1	0	0	0	0	0	0	0	1	14582	581	21	2		2	SLC35B2	6	44224429	Silent	SNP	C	TCGA-B0-4811-01A-01D-1501-10	3107058	44224429	126890638	34	8243											
COL12A1	1303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	75864169	75864169	+	Silent	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:75864169G>C	ENST00000322507.8	-	17	3837	c.3528C>G	c.(3526-3528)acC>acG	p.T1176T	COL12A1_ENST00000483888.2_Silent_p.T1176T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.T1176T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1176	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.T1176T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGTCGGAAAGGGTTGTCATTT	0.358																																																1	Substitution - coding silent(1)	kidney(1)											128	125	126					6																	75864169		1851	4093	5944	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3528C>G	6.37:g.75864169G>C			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1																																																																																				0.358	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		C	75864169	G	C	75864169	2	2	139	1	0	0	0	0	0	0	0	1	3671	1219	43	4		4	COL12A1	6	75864169	Silent	SNP	G	TCGA-B0-4811-01A-01D-1501-10	31639740	75864169	95250898	35	8244											
CTAGE9	643854	hgsc.bcm.edu	37	6	132032041	132032041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:132032041delA	ENST00000314099.8	-	1	165	c.117delT	c.(115-117)tttfs	p.F39fs	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	39						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GTTCCGATGGAAAACCATAAG	0.483																																																0													39	121	109					6																	132032041		131	727	858	SO:0001589	frameshift_variant	643854				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.117delT	6.37:g.132032041delA	ENSP00000395587:p.Phe39fs			Frame_Shift_Del	DEL	ENST00000314099.8	37	CCDS47475.1																																																																																				0.483	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		-	132032041	A	-	132032041	7	5	139	1	0	1	0	1	0	0	0	0	3998	243	9	0	2220	0	CTAGE9	6	132032041	Frame_Shift_Del	DEL	A	TCGA-B0-4811-01A-01D-1501-10	56167872	132032041	39083026	36	8245											
RAET1E	135250	broad.mit.edu	37	6	150211277	150211277	+	Silent	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:150211277A>G	ENST00000357183.4	-	2	222	c.90T>C	c.(88-90)ggT>ggC	p.G30G	RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000532335.1_Silent_p.G30G|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Silent_p.G30G|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Intron	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	30					antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.G30G(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AAAGAGAGTGACCACCTGTGA	0.507																																																1	Substitution - coding silent(1)	kidney(1)											46	43	44					6																	150211277		2203	4300	6503	SO:0001819	synonymous_variant	135250			AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.90T>C	6.37:g.150211277A>G			A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	CCDS5221.1																																																																																				0.507	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		G	150211277	A	G	150211277	2	3	139	1	0	0	0	0	0	0	0	1	13005	262	10	3		3	RAET1E	6	150211277	Silent	SNP	A	TCGA-B0-4811-01A-01D-1501-10	18179236	150211277	20903790	37	8246											
C6orf118	168090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	165715542	165715542	+	Missense_Mutation	SNP	C	C	T	rs143539145		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:165715542C>T	ENST00000230301.8	-	2	289	c.269G>A	c.(268-270)cGc>cAc	p.R90H	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	90								p.R90H(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTCAGAGGCGCGCTCCCCCTT	0.652																																																1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69	78	75		269	-5.7	0	6	dbSNP_134	75	0,8600		0,0,4300	no	missense	C6orf118	NM_144980.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	90/470	165715542	1,13005	2203	4300	6503	SO:0001583	missense	168090				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.269G>A	6.37:g.165715542C>T	ENSP00000230301:p.Arg90His		Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846345	0.51164	2.27E-4	0.0	ENSG00000112539	ENST00000230301	T	0.12774	2.65	4.79	-5.66	0.02451	.	2.282010	0.01599	N	0.021977	T	0.05410	0.0143	L	0.47716	1.5	0.09310	N	0.999998	D	0.61697	0.99	P	0.48982	0.597	T	0.20472	-1.0274	10	0.59425	D	0.04	.	0.9406	0.01355	0.1822:0.2698:0.1544:0.3936	.	90	Q5T5N4	CF118_HUMAN	H	90	ENSP00000230301:R90H	ENSP00000230301:R90H	R	-	2	0	C6orf118	165635532	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.168000	0.01270	-0.945000	0.03681	-0.844000	0.03045	CGC		0.652	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		T	165715542	C	T	165715542	3	4	139	1	0	0	0	0	1	0	0	0	2325	768	27	1	1172	1	C6orf118	6	165715542	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	15504265	165715542	5399525	38	8247											
CALD1	800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134618404	134618404	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr7:134618404T>G	ENST00000361675.2	+	5	1113	c.884T>G	c.(883-885)aTt>aGt	p.I295S	CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	295					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.I295S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CGAGCAAGAATTGAAGCAGAA	0.473																																																1	Substitution - Missense(1)	kidney(1)											69	79	76					7																	134618404		2203	4300	6503	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.884T>G	7.37:g.134618404T>G	ENSP00000354826:p.Ile295Ser		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	T	5.797	0.331395	0.10956	.	.	ENSG00000122786	ENST00000361675	T	0.39997	1.05	4.66	0.621	0.17643	.	2.462060	0.01903	N	0.039341	T	0.29093	0.0723	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.08086	-1.0739	9	.	.	.	2.739	1.5901	0.02652	0.1452:0.1549:0.1385:0.5614	.	295	Q05682	CALD1_HUMAN	S	295	ENSP00000354826:I295S	.	I	+	2	0	CALD1	134268944	0.000000	0.05858	0.006000	0.13384	0.988000	0.76386	0.115000	0.15540	0.134000	0.18681	0.460000	0.39030	ATT		0.473	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		G	134618404	T	G	134618404	3	3	139	1	0	0	0	0	1	0	0	0	2583	1493	52	5	951	5	CALD1	7	134618404	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10		134618404	24520259	39	8248											
CLCN1	1180	hgsc.bcm.edu;ucsc.edu	37	7	143048913	143048913	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr7:143048913delC	ENST00000343257.2	+	23	2909	c.2822delC	c.(2821-2823)tccfs	p.S941fs		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	941					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCCCTCTCTCCCTGGCCCCA	0.657																																																0													39	38	38					7																	143048913		2203	4300	6503	SO:0001589	frameshift_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2822delC	7.37:g.143048913delC	ENSP00000339867:p.Ser941fs		A4D2H5|Q2M202	Frame_Shift_Del	DEL	ENST00000343257.2	37	CCDS5881.1																																																																																				0.657	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		-	143048913	C	-	143048913	7	5	139	1	0	1	0	1	0	0	0	0	3464	855	30	0	2912	0	CLCN1	7	143048913	Frame_Shift_Del	DEL	C	TCGA-B0-4811-01A-01D-1501-10	8430509	143048913	16089750	40	8249											
PABPC1	26986	broad.mit.edu;hgsc.bcm.edu	37	8	101725345	101725345	+	Silent	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:101725345T>G	ENST00000318607.5	-	5	1836	c.708A>C	c.(706-708)gtA>gtC	p.V236V	PABPC1_ENST00000519004.1_Silent_p.V191V|PABPC1_ENST00000522387.1_Silent_p.V204V|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	236	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.V236V(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTCAAAGCTTACAAATCCAA	0.368																																																1	Substitution - coding silent(1)	kidney(1)											71	65	67					8																	101725345		2203	4300	6503	SO:0001819	synonymous_variant	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.708A>C	8.37:g.101725345T>G			Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.74|10.74	1.434730|1.434730	0.25813|0.25813	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519596|ENST00000519100	.|.	.|.	.|.	4.97|4.97	-3.53|-3.53	0.04667|0.04667	.|.	.|.	.|.	.|.	.|.	T|.	0.38746|.	0.1052|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36720|.	-0.9736|.	4|.	.|.	.|.	.|.	.|.	1.9476|1.9476	0.03360|0.03360	0.1726:0.403:0.2156:0.2088|0.1726:0.403:0.2156:0.2088	.|.	.|.	.|.	.|.	Q|S	69|105	.|.	.|.	K|X	-|-	1|2	0|2	PABPC1|PABPC1	101794521|101794521	0.959000|0.959000	0.32827|0.32827	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	0.022000|0.022000	0.13511|0.13511	-0.346000|-0.346000	0.08312|0.08312	0.383000|0.383000	0.25322|0.25322	AAG|TAA		0.368	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		G	101725345	T	G	101725345	2	3	139	1	0	0	0	0	0	0	0	1	11365	1741	61	5		5	PABPC1	8	101725345	Silent	SNP	T	TCGA-B0-4811-01A-01D-1501-10		101725345	44638677	41	8250			1	17		2	2	22	T		7.800911e-05
PABPC1	26986	broad.mit.edu;hgsc.bcm.edu	37	8	101725366	101725366	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:101725366T>A	ENST00000318607.5	-	5	1815	c.687A>T	c.(685-687)aaA>aaT	p.K229N	PABPC1_ENST00000519004.1_Missense_Mutation_p.K184N|PABPC1_ENST00000522387.1_Missense_Mutation_p.K197N|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	229	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.K229N(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATCCTTTGGATTTTCCACTTT	0.358																																																1	Substitution - Missense(1)	kidney(1)											59	56	57					8																	101725366		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.687A>T	8.37:g.101725366T>A	ENSP00000313007:p.Lys229Asn		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	16.89|16.89|16.89	3.248509|3.248509|3.248509	0.59103|0.59103|0.59103	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000519596|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	.|D;D;T|.	.|0.93712|.	.|-3.27;-3.27;2.26|.	4.97|4.97|4.97	4.97|4.97|4.97	0.65823|0.65823|0.65823	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	.|0.000000|.	.|0.64402|.	.|U|.	.|0.000012|.	T|T|T	0.54695|0.54695|0.54695	0.1874|0.1874|0.1874	L|L|L	0.41236|0.41236|0.41236	1.265|1.265|1.265	0.58432|0.58432|0.58432	D|D|D	0.999992|0.999992|0.999992	.|B;B;B|.	.|0.22909|.	.|0.012;0.077;0.069|.	.|B;B;B|.	.|0.39152|.	.|0.075;0.292;0.272|.	T|T|T	0.52162|0.52162|0.52162	-0.8612|-0.8612|-0.8612	5|10|5	.|0.62326|.	.|D|.	.|0.03|.	.|.|.	9.494|9.494|9.494	0.38978|0.38978|0.38978	0.0:0.0802:0.0:0.9198|0.0:0.0802:0.0:0.9198|0.0:0.0802:0.0:0.9198	.|.|.	.|197;229;229|.	.|E7ERJ7;B3KT93;P11940|.	.|.;.;PABP1_HUMAN|.	F|N|I	62|229;229;184;197|98	.|ENSP00000313007:K229N;ENSP00000429594:K184N;ENSP00000429395:K197N|.	.|ENSP00000313007:K229N|.	I|K|N	-|-|-	1|3|2	0|2|0	PABPC1|PABPC1|PABPC1	101794542|101794542|101794542	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	2.874000|2.874000|2.874000	0.48483|0.48483|0.48483	1.992000|1.992000|1.992000	0.58205|0.58205|0.58205	0.383000|0.383000|0.383000	0.25322|0.25322|0.25322	ATC|AAA|AAT		0.358	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101725366	T	A	101725366	3	1	139	1	0	0	0	0	1	0	0	0	11365	1490	52	5	1263	5	PABPC1	8	101725366	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	21	101725366	44638656	42	8251			1	17		2	2	22	T		7.800911e-05
TM7SF4	81501	broad.mit.edu;ucsc.edu	37	8	105361373	105361373	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:105361373A>G	ENST00000297581.2	+	2	642	c.593A>G	c.(592-594)tAc>tGc	p.Y198C	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.Y198C|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	198					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.Y198C(1)									AGCGTCTTGTACCAGATGGCA	0.547																																																1	Substitution - Missense(1)	kidney(1)											106	97	100					8																	105361373		2203	4300	6503	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.593A>G	8.37:g.105361373A>G	ENSP00000297581:p.Tyr198Cys		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	0.575	-0.839688	0.02692	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.30448	1.53	5.53	3.09	0.35607	.	1.027660	0.07662	N	0.933828	T	0.27027	0.0662	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29852	-0.9998	9	.	.	.	-0.2571	8.8698	0.35309	0.8512:0.0:0.1488:0.0	.	198	Q9H295	TM7S4_HUMAN	C	198	ENSP00000297581:Y198C	.	Y	+	2	0	TM7SF4	105430549	0.003000	0.15002	0.002000	0.10522	0.008000	0.06430	1.498000	0.35660	0.384000	0.24942	-0.379000	0.06801	TAC		0.547	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		G	105361373	A	G	105361373	3	3	139	1	0	0	0	0	1	0	0	0	15981	391	14	3	595	3	TM7SF4	8	105361373	Missense_Mutation	SNP	A	TCGA-B0-4811-01A-01D-1501-10	3636007	105361373	41002649	43	8252											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113349913	113349913	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:113349913A>C	ENST00000297405.5	-	43	6944	c.6700T>G	c.(6700-6702)Ttt>Gtt	p.F2234V	CSMD3_ENST00000352409.3_Missense_Mutation_p.F2164V|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2194V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2130V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2234	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F2234V(1)|p.F2194V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAATTACAAAACCATTTCGA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - Missense(2)	kidney(2)											98	100	99					8																	113349913		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6700T>G	8.37:g.113349913A>C	ENSP00000297405:p.Phe2234Val		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.783055	0.31593	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.64	5.64	0.86602	Complement control module (2);Sushi/SCR/CCP (3);	0.074181	0.56097	D	0.000038	T	0.13157	0.0319	N	0.04787	-0.16	0.46396	D	0.999029	B;B;B	0.23937	0.013;0.009;0.094	B;B;B	0.32928	0.013;0.01;0.155	T	0.22977	-1.0201	10	0.14656	T	0.56	.	16.0238	0.80522	1.0:0.0:0.0:0.0	.	2130;2234;2194	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	2194;2234;1504;2130;2164	ENSP00000345799:F2194V;ENSP00000297405:F2234V;ENSP00000341558:F1504V;ENSP00000412263:F2130V;ENSP00000343124:F2164V	ENSP00000297405:F2234V	F	-	1	0	CSMD3	113419089	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.332000	0.65911	2.367000	0.80283	0.528000	0.53228	TTT		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113349913	A	C	113349913	3	2	139	1	0	0	0	0	1	0	0	0	3948	14	1	5	4539	5	CSMD3	8	113349913	Missense_Mutation	SNP	A	TCGA-B0-4811-01A-01D-1501-10	7988540	113349913	33014109	44	8253											
ASAP1	50807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	131136342	131136342	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:131136342C>G	ENST00000518721.1	-	18	1751	c.1524G>C	c.(1522-1524)aaG>aaC	p.K508N	ASAP1_ENST00000357668.1_Missense_Mutation_p.K508N	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	508	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.K508N(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTCCTACATTCTTGGCCAGCT	0.328																																																1	Substitution - Missense(1)	kidney(1)											80	90	86					8																	131136342		2203	4300	6503	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1524G>C	8.37:g.131136342C>G	ENSP00000429900:p.Lys508Asn		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.281169|4.281169	0.80692|0.80692	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.46451	.|0.87;0.87	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.199162	.|0.51477	.|D	.|0.000092	T|T	0.61776|0.61776	0.2374|0.2374	L|L	0.50993|0.50993	1.605|1.605	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.987;0.987;0.999	T|T	0.58747|0.58747	-0.7582|-0.7582	5|10	.|0.54805	.|T	.|0.06	.|.	19.3813|19.3813	0.94536|0.94536	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|508;508;511	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	Q|N	329|511;508;508	.|ENSP00000350297:K508N;ENSP00000429900:K508N	.|ENSP00000344591:K511N	E|K	-|-	1|3	0|2	ASAP1|ASAP1	131205524|131205524	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.440000|7.440000	0.80464|0.80464	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.328	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		G	131136342	C	G	131136342	3	3	139	1	0	0	0	0	1	0	0	0	1010	912	32	4	1917	4	ASAP1	8	131136342	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	17786429	131136342	15227680	45	8254											
TG	7038	broad.mit.edu;ucsc.edu	37	8	134030154	134030154	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:134030154C>T	ENST00000220616.4	+	38	6734	c.6694C>T	c.(6694-6696)Cca>Tca	p.P2232S	TG_ENST00000542445.1_Missense_Mutation_p.P602S|TG_ENST00000377869.1_Missense_Mutation_p.P2175S|TG_ENST00000519543.1_Missense_Mutation_p.P365S|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2232					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.P2232S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTGGAGTTCCATATGCTGC	0.617																																																1	Substitution - Missense(1)	kidney(1)											63	60	61					8																	134030154		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6694C>T	8.37:g.134030154C>T	ENSP00000220616:p.Pro2232Ser		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.355943|4.355943	0.82243|0.82243	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|.	0.80909|.	-1.43;-1.43;-1.43;-1.43|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Carboxylesterase, type B (1);|.	0.135872|.	0.49305|.	D|.	0.000145|.	D|D	0.88976|0.88976	0.6584|0.6584	H|H	0.98754|0.98754	4.32|4.32	0.44085|0.44085	D|D	0.996846|0.996846	D;D;D|.	0.89917|.	0.999;0.998;1.0|.	D;D;D|.	0.97110|.	0.974;0.97;1.0|.	D|D	0.92527|0.92527	0.6030|0.6030	10|5	0.87932|.	D|.	0|.	.|.	14.5343|14.5343	0.67950|0.67950	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	365;602;2232|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	S|F	2175;1038;2232;602;365|687	ENSP00000367100:P2175S;ENSP00000220616:P2232S;ENSP00000441693:P602S;ENSP00000430430:P365S|.	ENSP00000220616:P2232S|.	P|S	+|+	1|2	0|0	TG|TG	134099336|134099336	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.952000|0.952000	0.60782|0.60782	5.606000|5.606000	0.67641|0.67641	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	CCA|TCC		0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	134030154	C	T	134030154	3	4	139	1	0	0	0	0	1	0	0	0	15818	855	30	2	6844	2	TG	8	134030154	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	2893812	134030154	12333868	46	8255											
EEF1D	1936	broad.mit.edu;hgsc.bcm.edu	37	8	144668953	144668953	+	Silent	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:144668953T>A	ENST00000529272.1	-	2	463	c.63A>T	c.(61-63)gcA>gcT	p.A21A	EEF1D_ENST00000317198.6_Silent_p.A21A|EEF1D_ENST00000395119.3_Silent_p.A21A|EEF1D_ENST00000442189.2_Silent_p.A387A|EEF1D_ENST00000423316.2_Silent_p.A387A|EEF1D_ENST00000528610.1_Silent_p.A21A|EEF1D_ENST00000531621.1_Silent_p.A21A|EEF1D_ENST00000532400.1_Silent_p.A21A|EEF1D_ENST00000526838.1_Silent_p.A21A|EEF1D_ENST00000419152.2_Silent_p.A21A|EEF1D_ENST00000524624.1_Silent_p.A21A|EEF1D_ENST00000532741.1_Silent_p.A437A			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	21					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.A387A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ATCTCCTTTCTGCGTCGTCAT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											106	105	105					8																	144668953		2203	4300	6503	SO:0001819	synonymous_variant	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.63A>T	8.37:g.144668953T>A			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	CCDS6405.1																																																																																				0.567	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		A	144668953	T	A	144668953	2	1	139	1	0	0	0	0	0	0	0	1	4928	1567	55	5		5	EEF1D	8	144668953	Silent	SNP	T	TCGA-B0-4811-01A-01D-1501-10	10638799	144668953	1695069	47	8256											
PARP10	84875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145059205	145059205	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:145059205G>A	ENST00000313028.7	-	5	1059	c.965C>T	c.(964-966)aCa>aTa	p.T322I	PARP10_ENST00000524918.1_Missense_Mutation_p.T322I|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.T334I	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	322					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T322I(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCAGAGCCTGTTGTCATAAT	0.622																																																1	Substitution - Missense(1)	kidney(1)											81	80	80					8																	145059205		2203	4300	6503	SO:0001583	missense	84875			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.965C>T	8.37:g.145059205G>A	ENSP00000325618:p.Thr322Ile		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480997	0.26598	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.30981	2.95;2.94;2.94;1.51	0.999	-0.0451	0.13853	.	.	.	.	.	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.22347	-1.0219	9	0.59425	D	0.04	.	2.9507	0.05861	0.3953:0.0:0.6047:0.0	.	334;322;322	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	I	322;28;322;334;237	ENSP00000431620:T322I;ENSP00000325618:T322I;ENSP00000434776:T334I;ENSP00000314320:T237I	ENSP00000325618:T322I	T	-	2	0	PARP10	145131193	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	-0.128000	0.10531	-0.029000	0.13827	0.177000	0.17058	ACA		0.622	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		A	145059205	G	A	145059205	3	1	139	1	0	0	0	0	1	0	0	0	11457	1377	48	2	2140	2	PARP10	8	145059205	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	390252	145059205	1304817	48	8257											
TJP2	9414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	71855060	71855060	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:71855060A>G	ENST00000377245.4	+	17	2771	c.2563A>G	c.(2563-2565)Aca>Gca	p.T855A	TJP2_ENST00000265384.7_Missense_Mutation_p.T855A|TJP2_ENST00000348208.4_Missense_Mutation_p.T855A|TJP2_ENST00000535702.1_Missense_Mutation_p.T859A|TJP2_ENST00000453658.2_Missense_Mutation_p.T832A|TJP2_ENST00000539225.1_Missense_Mutation_p.T886A	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	855	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.T855A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACACCTTTTTACAGGTAAGTG	0.313																																																1	Substitution - Missense(1)	kidney(1)											41	40	40					9																	71855060		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2563A>G	9.37:g.71855060A>G	ENSP00000366453:p.Thr855Ala		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657321	0.88154	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28	5.93	5.93	0.95920	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.988;0.996;0.999;0.998	T	0.61178	-0.7115	10	0.87932	D	0	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	886;859;855;855;855	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	A	832;855;855;855;859;886	ENSP00000392178:T832A;ENSP00000366453:T855A;ENSP00000345893:T855A;ENSP00000265384:T855A;ENSP00000442090:T859A;ENSP00000438262:T886A	ENSP00000265384:T855A	T	+	1	0	TJP2	71044880	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	ACA		0.313	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		G	71855060	A	G	71855060	3	3	139	1	0	0	0	0	1	0	0	0	15935	391	14	3	2786	3	TJP2	9	71855060	Missense_Mutation	SNP	A	TCGA-B0-4811-01A-01D-1501-10		71855060	69358371	49	8258											
GRIN3A	116443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104499650	104499650	+	Silent	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:104499650G>T	ENST00000361820.3	-	1	1212	c.612C>A	c.(610-612)ggC>ggA	p.G204G		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	204					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.G204G(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCATCATTTCGCCCTGGCTCT	0.597																																																1	Substitution - coding silent(1)	kidney(1)											80	74	76					9																	104499650		2203	4300	6503	SO:0001819	synonymous_variant	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.612C>A	9.37:g.104499650G>T			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																				0.597	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104499650	G	T	104499650	2	4	139	1	0	0	0	0	0	0	0	1	6785	1074	38	4		4	GRIN3A	9	104499650	Silent	SNP	G	TCGA-B0-4811-01A-01D-1501-10	32644590	104499650	36713781	50	8259											
SLC44A1	23446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	108147762	108147762	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:108147762T>A	ENST00000374720.3	+	15	2176	c.1929T>A	c.(1927-1929)gaT>gaA	p.D643E	SLC44A1_ENST00000343170.7_Missense_Mutation_p.D435E|SLC44A1_ENST00000374723.1_Missense_Mutation_p.D643E|SLC44A1_ENST00000374724.1_Missense_Mutation_p.D643E	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	643					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.D643E(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCGTCGCTGATTCCAGAGAGC	0.468																																																1	Substitution - Missense(1)	kidney(1)											54	51	52					9																	108147762		2198	4295	6493	SO:0001583	missense	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1929T>A	9.37:g.108147762T>A	ENSP00000363852:p.Asp643Glu		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.859034	0.32884	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.16196	3.25;3.24;3.21;2.36	5.71	1.88	0.25563	.	0.407952	0.30771	N	0.008917	T	0.05181	0.0138	N	0.08118	0	0.26484	N	0.97506	B;B;B	0.11235	0.002;0.004;0.0	B;B;B	0.12837	0.008;0.005;0.001	T	0.38200	-0.9672	10	0.02654	T	1	-17.0125	1.7916	0.03053	0.1055:0.2153:0.2033:0.4759	.	643;643;643	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	E	643;643;643;435	ENSP00000363855:D643E;ENSP00000363852:D643E;ENSP00000363856:D643E;ENSP00000341856:D435E	ENSP00000341856:D435E	D	+	3	2	SLC44A1	107187583	0.996000	0.38824	0.999000	0.59377	0.980000	0.70556	0.162000	0.16501	0.065000	0.16485	0.533000	0.62120	GAT		0.468	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		A	108147762	T	A	108147762	3	1	139	1	0	0	0	0	1	0	0	0	14641	1490	52	5	1987	5	SLC44A1	9	108147762	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	3648112	108147762	33065669	51	8260											
PKN3	29941	broad.mit.edu;ucsc.edu	37	9	131480826	131480826	+	Splice_Site	SNP	A	A	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:131480826A>C	ENST00000291906.4	+	18	2441		c.e18-1		PKN3_ENST00000485301.1_Splice_Site|ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3						epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CCTTGCCCTCAGGGACCTGAA	0.602																																																1	Unknown(1)	kidney(1)											96	93	94					9																	131480826		2203	4300	6503	SO:0001630	splice_region_variant	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2049-1A>C	9.37:g.131480826A>C			Q9UM03	Splice_Site	SNP	ENST00000291906.4	37	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340488	0.81911	.	.	ENSG00000160447	ENST00000291906	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1805	0.65572	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKN3	130520647	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	8.627000	0.90974	2.236000	0.73375	0.533000	0.62120	.		0.602	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355	Intron	C	131480826	A	C	131480826	5	2	139	1	0	0	0	0	0	0	1	0	11983	202	7	5	2117	5	PKN3	9	131480826	Splice_Site	SNP	A	TCGA-B0-4811-01A-01D-1501-10	23333064	131480826	9732605	52	8261											
ADAMTSL2	9719	broad.mit.edu;ucsc.edu	37	9	136412244	136412244	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:136412244T>C	ENST00000354484.4	+	9	1405	c.848T>C	c.(847-849)gTg>gCg	p.V283A	ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.V392A|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.V283A	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	283					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V283A(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCAGGCACGGTGGTCAAGTAC	0.562																																																1	Substitution - Missense(1)	kidney(1)											192	180	184					9																	136412244		2203	4300	6503	SO:0001583	missense	9719			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.848T>C	9.37:g.136412244T>C	ENSP00000346478:p.Val283Ala		B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676919	0.67928	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.54479	0.57;0.57;0.57	5.16	5.16	0.70880	ADAM-TS Spacer 1 (1);	0.192781	0.31747	N	0.007133	T	0.53481	0.1799	M	0.68317	2.08	0.48696	D	0.999693	B	0.30584	0.286	B	0.35859	0.212	T	0.50575	-0.8812	10	0.18710	T	0.47	.	14.9878	0.71362	0.0:0.0:0.0:1.0	.	283	Q86TH1	ATL2_HUMAN	A	283;392;283	ENSP00000346478:V283A;ENSP00000376781:V392A;ENSP00000376780:V283A	ENSP00000346478:V283A	V	+	2	0	ADAMTSL2	135402065	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.920000	0.87521	1.931000	0.55961	0.459000	0.35465	GTG		0.562	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		C	136412244	T	C	136412244	3	2	139	1	0	0	0	0	1	0	0	0	275	1696	59	3	878	3	ADAMTSL2	9	136412244	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	4931418	136412244	4801187	53	8262											
IDI1	3422	hgsc.bcm.edu;ucsc.edu	37	10	1088643	1088643	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr10:1088643delT	ENST00000381344.3	-	4	632	c.466delA	c.(466-468)agtfs	p.S156fs	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	99	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.			R -> G (in Ref. 9; BAD96595). {ECO:0000305}.	cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AGGGCGTCACTTTCCTCAAGC	0.463																																																0													112	99	103					10																	1088643		2203	4300	6503	SO:0001589	frameshift_variant	3422			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"IPP isomerase"	604055	"isopentenyl-diphosphate delta isomerase"			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.466delA	10.37:g.1088643delT	ENSP00000370748:p.Ser156fs		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Frame_Shift_Del	DEL	ENST00000381344.3	37	CCDS7056.1																																																																																				0.463	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		-	1088643	T	-	1088643	7	5	139	1	0	1	0	1	0	0	0	0	7501	1609	56	0	396	0	IDI1	10	1088643	Frame_Shift_Del	DEL	T	TCGA-B0-4811-01A-01D-1501-10		1088643	134446104	54	8263											
ITGB1	3688	broad.mit.edu;hgsc.bcm.edu	37	10	33199330	33199330	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr10:33199330G>A	ENST00000396033.2	-	14	2120	c.1985C>T	c.(1984-1986)aCa>aTa	p.T662I	ITGB1_ENST00000302278.3_Missense_Mutation_p.T662I|ITGB1_ENST00000423113.1_Missense_Mutation_p.T662I|ITGB1_ENST00000374956.4_Missense_Mutation_p.T662I	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	662					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)	p.T662I(2)		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)	ACATTCCTGTGTGCATGTGTC	0.378																																																2	Substitution - Missense(2)	kidney(2)											49	50	50					10																	33199330		2203	4297	6500	SO:0001583	missense	3688			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.1985C>T	10.37:g.33199330G>A	ENSP00000379350:p.Thr662Ile		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786752	0.31593	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.64	3.77	0.43336	Integrin beta subunit, tail (2);	0.762789	0.13099	N	0.413926	T	0.76744	0.4030	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002	B;B;B;B;B	0.17433	0.0;0.001;0.0;0.0;0.018	T	0.63341	-0.6659	10	0.44086	T	0.13	.	5.8428	0.18643	0.1906:0.0:0.6616:0.1478	.	662;662;662;662;662	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	I	662	ENSP00000379350:T662I;ENSP00000388694:T662I;ENSP00000303351:T662I;ENSP00000364094:T662I	ENSP00000303351:T662I	T	-	2	0	ITGB1	33239336	0.500000	0.26091	0.923000	0.36655	0.811000	0.45836	2.684000	0.46951	2.673000	0.90976	0.555000	0.69702	ACA		0.378	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		A	33199330	G	A	33199330	3	1	139	1	0	0	0	0	1	0	0	0	7892	1377	48	2	661	2	ITGB1	10	33199330	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	32110687	33199330	102335417	55	8264											
INSC	387755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	15267524	15267524	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:15267524G>A	ENST00000379554.3	+	13	1724	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I	INSC_ENST00000424273.1_Missense_Mutation_p.V471I|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.V513I|INSC_ENST00000530161.1_Missense_Mutation_p.V513I|INSC_ENST00000528567.1_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.V471I	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	560					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.V560I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCAGCAGTTGGTCCAGCCTCG	0.542																																																1	Substitution - Missense(1)	kidney(1)											115	119	118					11																	15267524		1987	4149	6136	SO:0001583	missense	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1678G>A	11.37:g.15267524G>A	ENSP00000368872:p.Val560Ile		A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093826	0.56075	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000530161;ENST00000525218	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	6.17	5.26	0.73747	Armadillo-type fold (1);	0.131369	0.52532	N	0.000075	T	0.40719	0.1128	L	0.42245	1.32	0.34652	D	0.721762	B;B;B	0.26602	0.051;0.154;0.047	B;B;B	0.23716	0.036;0.048;0.017	T	0.50311	-0.8843	10	0.27785	T	0.31	-31.529	14.3928	0.66991	0.0715:0.0:0.9285:0.0	.	548;471;560	Q1MX18-5;Q1MX18-4;Q1MX18	.;.;INSC_HUMAN	I	560;513;471;513;471	ENSP00000368872:V560I;ENSP00000368874:V513I;ENSP00000389161:V471I;ENSP00000436194:V513I;ENSP00000436113:V471I	ENSP00000368872:V560I	V	+	1	0	INSC	15224100	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.357000	0.59436	1.616000	0.50265	0.655000	0.94253	GTC		0.542	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		A	15267524	G	A	15267524	3	1	139	1	0	0	0	0	1	0	0	0	7766	1261	44	2	1728	2	INSC	11	15267524	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10		15267524	119738992	56	8265											
MUC15	143662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	26582750	26582750	+	Silent	SNP	C	C	T	rs201499877		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:26582750C>T	ENST00000455601.2	-	4	985	c.867G>A	c.(865-867)ccG>ccA	p.P289P	MUC15_ENST00000529533.1_Silent_p.P316P|MUC15_ENST00000527569.1_Silent_p.P266P|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000436318.2_Silent_p.P316P|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Silent_p.P266P|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000529242.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	289					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P289P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CATAAGGTTCCGGTGCATTGT	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16320	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											127	114	119					11																	26582750		2203	4300	6503	SO:0001819	synonymous_variant	143662			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.867G>A	11.37:g.26582750C>T			B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	CCDS7859.1																																																																																				0.383	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		T	26582750	C	T	26582750	2	4	139	1	0	0	0	0	0	0	0	1	9974	639	23	1		1	MUC15	11	26582750	Silent	SNP	C	TCGA-B0-4811-01A-01D-1501-10	11315226	26582750	108423766	57	8266											
DGKZ	8525	broad.mit.edu	37	11	46388175	46388175	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:46388175G>A	ENST00000454345.1	+	2	494	c.369G>A	c.(367-369)caG>caA	p.Q123Q	DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000525434.1_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000532868.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	123					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.Q123Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGGTGTCCAGGAGGATGTGG	0.677																																																1	Substitution - coding silent(1)	kidney(1)											22	28	26					11																	46388175		2131	4225	6356	SO:0001819	synonymous_variant	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.369G>A	11.37:g.46388175G>A			B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	CCDS41640.1																																																																																				0.677	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		A	46388175	G	A	46388175	2	1	139	1	0	0	0	0	0	0	0	1	4476	991	35	2		2	DGKZ	11	46388175	Silent	SNP	G	TCGA-B0-4811-01A-01D-1501-10	19805425	46388175	88618341	58	8267											
DPF2	5977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65113420	65113420	+	Silent	SNP	A	A	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:65113420A>C	ENST00000528416.1	+	8	928	c.795A>C	c.(793-795)ggA>ggC	p.G265G	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Silent_p.G279G|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	265					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)	p.G265G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GTCCTGATGGATTGGCCTTGC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											125	125	125					11																	65113420		2201	4297	6498	SO:0001819	synonymous_variant	5977			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.795A>C	11.37:g.65113420A>C			A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	37	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.513536	0.44763	.	.	ENSG00000133884	ENST00000531989	D	0.91686	-2.89	5.92	-7.62	0.01294	.	.	.	.	.	T	0.75874	0.3909	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62407	-0.6861	6	0.07644	T	0.81	-11.556	1.3808	0.02230	0.2:0.3121:0.2839:0.204	.	.	.	.	A	28	ENSP00000435887:D28A	ENSP00000435887:D28A	D	+	2	0	DPF2	64869996	0.000000	0.05858	0.218000	0.23776	0.940000	0.58332	-5.289000	0.00134	-1.763000	0.01307	0.459000	0.35465	GAT		0.512	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		C	65113420	A	C	65113420	2	2	139	1	0	0	0	0	0	0	0	1	4719	320	12	5		5	DPF2	11	65113420	Silent	SNP	A	TCGA-B0-4811-01A-01D-1501-10	18725245	65113420	69893096	59	8268											
GPR83	10888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94113463	94113463	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:94113463G>A	ENST00000243673.2	-	4	1295	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	GPR83_ENST00000539203.2_Missense_Mutation_p.P333L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	375					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.P375L(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AACTGGGGAGGGTGGCCTGTC	0.552																																																1	Substitution - Missense(1)	kidney(1)											102	94	97					11																	94113463		2201	4298	6499	SO:0001583	missense	10888			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.1124C>T	11.37:g.94113463G>A	ENSP00000243673:p.Pro375Leu		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550812	0.27739	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.37235	1.21;1.21	5.75	5.75	0.90469	.	0.055430	0.64402	D	0.000001	T	0.32912	0.0845	L	0.43923	1.385	0.80722	D	1	B	0.25441	0.126	B	0.20955	0.032	T	0.06409	-1.0828	10	0.19590	T	0.45	.	18.5085	0.90907	0.0:0.0:1.0:0.0	.	375	Q9NYM4	GPR83_HUMAN	L	375;333	ENSP00000243673:P375L;ENSP00000441550:P333L	ENSP00000243673:P375L	P	-	2	0	GPR83	93753111	1.000000	0.71417	0.997000	0.53966	0.116000	0.19942	6.940000	0.75917	2.719000	0.93026	0.655000	0.94253	CCC		0.552	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		A	94113463	G	A	94113463	3	1	139	1	0	0	0	0	1	0	0	0	6715	1232	43	2	151	2	GPR83	11	94113463	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	29000043	94113463	40893053	60	8269											
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103057148	103057148	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:103057148G>C	ENST00000375735.2	+	42	6955	c.6811G>C	c.(6811-6813)Ggt>Cgt	p.G2271R	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G2271R	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2271	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATGCAACGAGGTCTAGATTA	0.403																																																0													85	78	80					11																	103057148		1863	4112	5975	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6811G>C	11.37:g.103057148G>C	ENSP00000364887:p.Gly2271Arg		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066106	0.36470	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.26373	1.74;1.74	5.7	1.66	0.24008	.	.	.	.	.	T	0.24275	0.0588	L	0.29908	0.895	0.38178	D	0.939548	B;B	0.29552	0.248;0.208	B;B	0.41299	0.353;0.163	T	0.09662	-1.0664	9	0.25751	T	0.34	.	12.5281	0.56098	0.195:0.0:0.805:0.0	.	2271;2271	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	R	2271	ENSP00000364887:G2271R;ENSP00000381167:G2271R	ENSP00000364887:G2271R	G	+	1	0	DYNC2H1	102562358	1.000000	0.71417	0.440000	0.26846	0.803000	0.45373	2.419000	0.44671	0.042000	0.15717	-1.175000	0.01729	GGT		0.403	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		C	103057148	G	C	103057148	3	2	139	1	0	0	0	0	1	0	0	0	4848	1000	35	4	6977	4	DYNC2H1	11	103057148	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	8943685	103057148	31949368	61	8270											
SLC2A14	144195	broad.mit.edu;hgsc.bcm.edu	37	12	7967042	7967042	+	Missense_Mutation	SNP	C	C	T	rs140568143	byFrequency	TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:7967042C>T	ENST00000543909.1	-	16	2192	c.1433G>A	c.(1432-1434)cGt>cAt	p.R478H	SLC2A14_ENST00000431042.2_Missense_Mutation_p.R455H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R455H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R478H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R369H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R369H|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R119H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R493H			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	478					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.R478H(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGTCCTGCCACGGGTCTCAGG	0.498																																																1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	81	72	75		1433	2.9	1	12	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC2A14	NM_153449.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	478/521	7967042	2,13004	2203	4300	6503	SO:0001583	missense	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1433G>A	12.37:g.7967042C>T	ENSP00000440480:p.Arg478His		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530447	0.45073	2.27E-4	1.16E-4	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	3.81	2.89	0.33648	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.264168	0.34484	N	0.003935	T	0.73713	0.3622	M	0.83384	2.64	0.31510	N	0.663752	B;B;B;B	0.32717	0.371;0.241;0.381;0.108	B;B;B;B	0.33690	0.117;0.082;0.073;0.168	T	0.76399	-0.2973	10	0.87932	D	0	.	8.5593	0.33501	0.0:0.8765:0.0:0.1235	.	493;369;455;478	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	H	455;478;455;119;478;369;369;493	ENSP00000340450:R455H;ENSP00000440480:R478H;ENSP00000407287:R455H;ENSP00000438484:R119H;ENSP00000379834:R478H;ENSP00000440492:R369H;ENSP00000443903:R369H;ENSP00000445929:R493H	ENSP00000340450:R455H	R	-	2	0	SLC2A14	7858309	0.140000	0.22579	0.997000	0.53966	0.991000	0.79684	0.193000	0.17116	0.675000	0.31264	0.460000	0.39030	CGT		0.498	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		T	7967042	C	T	7967042	3	4	139	1	0	0	0	0	1	0	0	0	14549	536	19	1	133	1	SLC2A14	12	7967042	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10		7967042	125884853	62	8271											
MLL2	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49436557	49436558	+	Missense_Mutation	DNP	TG	TG	CC			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T|G	T|G	T|G	C	T|G	T|G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:49436557_49436558TG>CC	ENST00000301067.7	-	26	5747_5748	c.5748_5749CA>GG	c.(5746-5751)ggCAgc>ggGGgc	p.S1917G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1917					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G1916G(1)|p.S1917G(1)|p.S1647G(1)|p.G1646G(1)									GGCGTACGGCTGCCTTCTAGGC	0.55																																																4	Substitution - Missense(2)|Substitution - coding silent(2)	kidney(4)																																								SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5748_5749delinsCC	12.37:g.49436557_49436558delinsCC	ENSP00000301067:p.Ser1917Gly		O14687	Missense_Mutation|Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.55	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			CC	49436558	TG	CC	49436557	3	2	139	1	0	0	0	0	1	0	0	0	9623	1580	55	3	10980	3	MLL2	12	49436557	Missense_Mutation	DNP	TG	TCGA-B0-4811-01A-01D-1501-10	41469515	49436557	84415338	63	8272											
LMBR1L	55716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49495927	49495927	+	Silent	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:49495927A>G	ENST00000267102.8	-	11	1248	c.906T>C	c.(904-906)gcT>gcC	p.A302A	LMBR1L_ENST00000395141.4_Silent_p.A297A|LMBR1L_ENST00000547382.1_Silent_p.A302A|LMBR1L_ENST00000553204.1_5'Flank	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	302					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A297A(1)|p.A302A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCACAGCATAGCCAGGGGGT	0.607																																																2	Substitution - coding silent(2)	kidney(2)											104	93	96					12																	49495927		2203	4300	6503	SO:0001819	synonymous_variant	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.906T>C	12.37:g.49495927A>G			Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	CCDS8780.2																																																																																				0.607	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		G	49495927	A	G	49495927	2	3	139	1	0	0	0	0	0	0	0	1	8843	407	15	3		3	LMBR1L	12	49495927	Silent	SNP	A	TCGA-B0-4811-01A-01D-1501-10	59370	49495927	84355968	64	8273											
NR4A1	3164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52448382	52448382	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:52448382G>A	ENST00000243050.1	+	3	584	c.270G>A	c.(268-270)tcG>tcA	p.S90S	NR4A1_ENST00000394824.2_Silent_p.S90S|NR4A1_ENST00000548232.1_Silent_p.S90S|NR4A1_ENST00000550082.1_Silent_p.S103S|NR4A1_ENST00000360284.3_Silent_p.S103S|NR4A1_ENST00000394825.1_Silent_p.S90S|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000545748.1_Silent_p.S144S	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	90	Poly-Ser.				cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S90S(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		ccacatcctcgtcctcagcca	0.637																																																1	Substitution - coding silent(1)	kidney(1)											116	93	101					12																	52448382		2203	4300	6503	SO:0001819	synonymous_variant	3164			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.270G>A	12.37:g.52448382G>A			B4DML7|Q15627|Q53Y00|Q6IBU8	Silent	SNP	ENST00000243050.1	37	CCDS8818.1																																																																																				0.637	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			A	52448382	G	A	52448382	2	1	139	1	0	0	0	0	0	0	0	1	10634	1132	40	1		1	NR4A1	12	52448382	Silent	SNP	G	TCGA-B0-4811-01A-01D-1501-10	2952455	52448382	81403513	65	8274											
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53685805	53685805	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:53685805T>C	ENST00000257934.4	+	27	5820	c.5729T>C	c.(5728-5730)cTc>cCc	p.L1910P	ESPL1_ENST00000552462.1_Missense_Mutation_p.L1910P	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1910					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.L1910P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATGCCCAGCCTCCAAGCACTG	0.572																																					Colon(53;1069 1201 2587 5382)											1	Substitution - Missense(1)	kidney(1)											78	75	76					12																	53685805		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5729T>C	12.37:g.53685805T>C	ENSP00000257934:p.Leu1910Pro			Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905726	0.72868	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.23754	1.89;1.89	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	T	0.59280	0.2182	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70270	-0.4918	10	0.87932	D	0	.	13.3175	0.60415	0.0:0.0:0.0:1.0	.	1910	Q14674	ESPL1_HUMAN	P	1910;1585;1910	ENSP00000257934:L1910P;ENSP00000449831:L1910P	ENSP00000257934:L1910P	L	+	2	0	ESPL1	51972072	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.388000	0.79795	2.054000	0.61138	0.528000	0.53228	CTC		0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		C	53685805	T	C	53685805	3	2	139	1	0	0	0	0	1	0	0	0	5255	1551	54	3	5831	3	ESPL1	12	53685805	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	1237423	53685805	80166090	66	8275											
NR2C1	7181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	95422176	95422176	+	Silent	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:95422176T>C	ENST00000333003.5	-	12	1848	c.1518A>G	c.(1516-1518)gtA>gtG	p.V506V	NR2C1_ENST00000545833.1_5'Flank	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	506					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V506V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GACTGAAGAGTACTATTGCCT	0.358																																																1	Substitution - coding silent(1)	kidney(1)											104	93	97					12																	95422176		2203	4300	6503	SO:0001819	synonymous_variant	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1518A>G	12.37:g.95422176T>C			A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	CCDS9051.1																																																																																				0.358	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		C	95422176	T	C	95422176	2	2	139	1	0	0	0	0	0	0	0	1	10624	1625	57	3		3	NR2C1	12	95422176	Silent	SNP	T	TCGA-B0-4811-01A-01D-1501-10	41736371	95422176	38429719	67	8276											
PSMA6	9692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	35777199	35777199	+	Splice_Site	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr14:35777199G>C	ENST00000557565.1	+	10	3024		c.e10-1		PSMA6_ENST00000261479.4_Splice_Site|PSMA6_ENST00000540871.1_Splice_Site|PSMA6_ENST00000553809.1_Splice_Site|PSMA6_ENST00000556506.1_Splice_Site|PSMA6_ENST00000555764.1_Splice_Site	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391						tRNA processing (GO:0008033)	mitochondrion (GO:0005739)		p.?(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTTTCCAGAATATGCTTT	0.348																																																1	Unknown(1)	kidney(1)											60	57	58					14																	35777199		2203	4300	6503	SO:0001630	splice_region_variant	5687			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1750-1G>C	14.37:g.35777199G>C			B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Splice_Site	SNP	ENST00000557565.1	37	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526600	0.64860	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000556506	.	.	.	5.33	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4519	0.67392	0.0717:0.0:0.9283:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMA6	34846950	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.737000	0.98831	1.368000	0.46115	-0.150000	0.13652	.		0.348	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672	Intron	C	35777199	G	C	35777199	5	2	139	1	0	0	0	0	0	0	1	0	12676	956	33	4	82	4	PSMA6	14	35777199	Splice_Site	SNP	G	TCGA-B0-4811-01A-01D-1501-10		35777199	71572341	68	8277											
NEK9	91754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75553771	75553771	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr14:75553771T>C	ENST00000238616.5	-	21	2925	c.2767A>G	c.(2767-2769)Att>Gtt	p.I923V	NEK9_ENST00000555763.1_5'Flank	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	923					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.I923V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TGGGTAAAAATCTGGAGGTTT	0.443																																																1	Substitution - Missense(1)	kidney(1)											122	126	125					14																	75553771		2203	4300	6503	SO:0001583	missense	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2767A>G	14.37:g.75553771T>C	ENSP00000238616:p.Ile923Val		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568973	0.45798	.	.	ENSG00000119638	ENST00000238616	T	0.71222	-0.55	6.17	5.03	0.67393	.	0.294745	0.30185	N	0.010207	T	0.53206	0.1782	N	0.19112	0.55	0.22226	N	0.999275	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.47799	-0.9089	10	0.56958	D	0.05	.	7.254	0.26166	0.0:0.0767:0.1887:0.7346	.	923;266	Q8TD19;Q6PKF2	NEK9_HUMAN;.	V	923	ENSP00000238616:I923V	ENSP00000238616:I923V	I	-	1	0	NEK9	74623524	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.856000	0.48341	1.149000	0.42402	0.533000	0.62120	ATT		0.443	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		C	75553771	T	C	75553771	3	2	139	1	0	0	0	0	1	0	0	0	10333	1435	50	3	180	3	NEK9	14	75553771	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	39776572	75553771	31795769	69	8278											
SEMA6D	80031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48063502	48063502	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr15:48063502G>A	ENST00000316364.5	+	19	3181	c.2742G>A	c.(2740-2742)tcG>tcA	p.S914S	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Silent_p.S852S|SEMA6D_ENST00000558014.1_Silent_p.S852S|SEMA6D_ENST00000389432.2_Silent_p.S871S|SEMA6D_ENST00000537942.1_Silent_p.S852S|SEMA6D_ENST00000536845.2_Silent_p.S914S|SEMA6D_ENST00000389433.2_Silent_p.S895S|SEMA6D_ENST00000354744.4_Silent_p.S858S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Silent_p.S839S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	914					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S852S(2)|p.S914S(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCATGGGATCGATGTCTGAGG	0.517																																																4	Substitution - coding silent(4)	lung(2)|kidney(2)											122	108	113					15																	48063502		2198	4297	6495	SO:0001819	synonymous_variant	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2742G>A	15.37:g.48063502G>A			A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	CCDS32225.1																																																																																				0.517	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		A	48063502	G	A	48063502	2	1	139	1	0	0	0	0	0	0	0	1	14048	1045	37	1		1	SEMA6D	15	48063502	Silent	SNP	G	TCGA-B0-4811-01A-01D-1501-10		48063502	54467890	70	8279											
VPS13C	54832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	62254726	62254726	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr15:62254726T>C	ENST00000261517.5	-	34	3520	c.3447A>G	c.(3445-3447)atA>atG	p.I1149M	VPS13C_ENST00000249837.3_Missense_Mutation_p.I1106M|VPS13C_ENST00000395898.3_Missense_Mutation_p.I1106M|VPS13C_ENST00000395896.4_Missense_Mutation_p.I1149M	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.I1149M(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATTTCCCATTATTGACACAG	0.363																																																2	Substitution - Missense(2)	kidney(2)											90	93	92					15																	62254726		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3447A>G	15.37:g.62254726T>C	ENSP00000261517:p.Ile1149Met			Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.555374	0.65425	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.43688	0.94;0.94;0.94	5.82	5.82	0.92795	.	0.055194	0.64402	D	0.000002	T	0.63450	0.2512	M	0.80508	2.5	0.45747	D	0.99864	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;D	0.69654	0.949;0.944;0.965;0.942	T	0.65479	-0.6158	10	0.42905	T	0.14	.	11.8758	0.52546	0.1306:0.0:0.0:0.8694	.	1106;1149;1106;1149	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	M	1106;1149;1149;1149	ENSP00000249837:I1106M;ENSP00000261517:I1149M;ENSP00000379233:I1149M	ENSP00000249837:I1106M	I	-	3	3	VPS13C	60042018	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.206000	0.32321	2.218000	0.71995	0.533000	0.62120	ATA		0.363	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62254726	T	C	62254726	3	2	139	1	0	0	0	0	1	0	0	0	17196	1744	61	3	8050	3	VPS13C	15	62254726	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	14191224	62254726	40276666	71	8280											
ALPK3	57538	hgsc.bcm.edu;ucsc.edu	37	15	85407697	85407697	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr15:85407697delC	ENST00000258888.5	+	12	5297	c.5130delC	c.(5128-5130)tacfs	p.Y1710fs		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1710	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATCTGATCTACCGGCCTGCAA	0.532																																																0													103	92	96					15																	85407697		2203	4299	6502	SO:0001589	frameshift_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5130delC	15.37:g.85407697delC	ENSP00000258888:p.Tyr1710fs		Q9P2L6	Frame_Shift_Del	DEL	ENST00000258888.5	37	CCDS10333.1																																																																																				0.532	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		-	85407697	C	-	85407697	7	5	139	1	0	1	0	1	0	0	0	0	546	518	18	0	5176	0	ALPK3	15	85407697	Frame_Shift_Del	DEL	C	TCGA-B0-4811-01A-01D-1501-10	23152971	85407697	17123695	72	8281											
OR4F6	390648	hgsc.bcm.edu;ucsc.edu	37	15	102346601	102346601	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr15:102346601delA	ENST00000328882.4	+	1	700	c.679delA	c.(679-681)aaafs	p.K228fs		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GACTGTTCAGAAAAAATCTTC	0.348																																																0													135	136	136					15																	102346601		2202	4300	6502	SO:0001589	frameshift_variant	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.679delA	15.37:g.102346601delA	ENSP00000327525:p.Lys228fs		B9EH28|Q6IF95	Frame_Shift_Del	DEL	ENST00000328882.4	37	CCDS32341.1																																																																																				0.348	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			-	102346601	A	-	102346601	7	5	139	1	0	1	0	1	0	0	0	0	11068	247	9	0	681	0	OR4F6	15	102346601	Frame_Shift_Del	DEL	A	TCGA-B0-4811-01A-01D-1501-10	16938904	102346601	184791	73	8282											
HN1L	90861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1735538	1735538	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:1735538T>G	ENST00000248098.3	+	2	200	c.143T>G	c.(142-144)tTt>tGt	p.F48C	HN1L_ENST00000382710.4_Missense_Mutation_p.F36C|HN1L_ENST00000562684.1_Missense_Mutation_p.F76C|LA16c-431H6.6_ENST00000454337.1_3'UTR|HN1L_ENST00000569765.1_Missense_Mutation_p.F76C|HN1L_ENST00000561516.1_Missense_Mutation_p.F48C|HN1L_ENST00000382711.5_Missense_Mutation_p.F32C|HN1L_ENST00000569256.1_Intron	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	48						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F48C(1)		endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						TCTAATATTTTTGGACCAACA	0.473																																																1	Substitution - Missense(1)	kidney(1)											85	86	85					16																	1735538		2199	4300	6499	SO:0001583	missense	90861			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 34"	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.143T>G	16.37:g.1735538T>G	ENSP00000248098:p.Phe48Cys		B1AJY2|Q6EIC7	Missense_Mutation	SNP	ENST00000248098.3	37	CCDS10441.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678280	0.88542	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000414325;ENST00000382710	T;T	0.42513	0.97;0.97	5.99	5.99	0.97316	.	0.051151	0.85682	D	0.000000	T	0.71039	0.3293	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.77164	-0.2688	10	0.87932	D	0	-39.7054	16.4943	0.84223	0.0:0.0:0.0:1.0	.	36;76;76;48;48	A6NGP5;B4E1P3;B4DLH4;B4DL85;Q9H910	.;.;.;.;HN1L_HUMAN	C	48;76;48;36	ENSP00000248098:F48C;ENSP00000372157:F36C	ENSP00000248098:F48C	F	+	2	0	HN1L	1675539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.739000	0.68622	2.291000	0.77112	0.533000	0.62120	TTT		0.473	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2	NM_144570		G	1735538	T	G	1735538	3	3	139	1	0	0	0	0	1	0	0	0	7252	1841	64	5	149	5	HN1L	16	1735538	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10		1735538	88619215	74	8283											
FAM18A	780776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10864178	10864178	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:10864178C>A	ENST00000299866.8	-	7	884	c.593G>T	c.(592-594)gGt>gTt	p.G198V	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	198						integral component of membrane (GO:0016021)		p.G198V(1)									CTGAAAGTCACCTGGGCAGGC	0.537																																																1	Substitution - Missense(1)	kidney(1)											33	34	34					16																	10864178		1773	3841	5614	SO:0001583	missense	0				CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"family with sequence similarity 18, member A"	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.593G>T	16.37:g.10864178C>A	ENSP00000299866:p.Gly198Val		B2RUV4|B7ZW18	Missense_Mutation	SNP	ENST00000299866.8	37	CCDS45408.1	.	.	.	.	.	.	.	.	.	.	C	4.399	0.073752	0.08485	.	.	ENSG00000166676	ENST00000456096;ENST00000299866	T	0.29142	1.58	5.38	2.03	0.26663	.	1.862920	0.02394	N	0.079998	T	0.19846	0.0477	N	0.14661	0.345	0.09310	N	0.999999	B	0.13594	0.008	B	0.11329	0.006	T	0.16364	-1.0405	10	0.30854	T	0.27	-1.4583	5.4614	0.16619	0.0:0.6067:0.0:0.3933	.	198	A6NH52	FA18A_HUMAN	V	173;198	ENSP00000299866:G198V	ENSP00000299866:G198V	G	-	2	0	FAM18A	10771679	0.000000	0.05858	0.003000	0.11579	0.243000	0.25628	0.350000	0.20079	0.657000	0.30906	-0.263000	0.10527	GGT		0.537	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1	NM_001079512		A	10864178	C	A	10864178	3	1	139	1	0	0	0	0	1	0	0	0	5520	507	18	4	52	4	FAM18A	16	10864178	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	9128640	10864178	79490575	75	8284											
QPRT	23475	broad.mit.edu;ucsc.edu	37	16	29706503	29706503	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:29706503G>C	ENST00000395384.4	+	2	693	c.532G>C	c.(532-534)Gcc>Ccc	p.A178P	QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	178				AA -> PP (in Ref. 1; BAA11242). {ECO:0000305}.	NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)	p.A178P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TGTGGTGGCCGCCGGTGGCGT	0.682																																																1	Substitution - Missense(1)	kidney(1)											19	34	29					16																	29706503		2068	4115	6183	SO:0001583	missense	23475			D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"nicotinate-nucleotide pyrophosphorylase (carboxylating)"	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.532G>C	16.37:g.29706503G>C	ENSP00000378782:p.Ala178Pro		Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	ENST00000395384.4	37	CCDS10651.1	.	.	.	.	.	.	.	.	.	.	.	14.74	2.624447	0.46840	.	.	ENSG00000103485	ENST00000395384	T	0.34667	1.35	3.88	3.88	0.44766	Aldolase-type TIM barrel (1);Quinolinate phosphoribosyl transferase, C-terminal (2);	0.246638	0.34959	N	0.003546	T	0.43188	0.1236	M	0.90870	3.155	0.45777	D	0.99866	B	0.23058	0.079	B	0.20955	0.032	T	0.48445	-0.9035	9	.	.	.	-9.8616	7.5379	0.27721	0.117:0.0:0.883:0.0	.	178	Q15274	NADC_HUMAN	P	178	ENSP00000378782:A178P	.	A	+	1	0	QPRT	29614004	0.794000	0.28838	0.107000	0.21349	0.420000	0.31355	2.766000	0.47629	2.166000	0.68216	0.461000	0.40582	GCC		0.682	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2	NM_014298		C	29706503	G	C	29706503	3	2	139	1	0	0	0	0	1	0	0	0	12882	1087	38	4	538	4	QPRT	16	29706503	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	18842325	29706503	60648250	76	8285											
SEPHS2	22928	broad.mit.edu;ucsc.edu	37	16	30456187	30456187	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:30456187A>G	ENST00000478753.2	-	1	1315	c.862T>C	c.(862-864)Tat>Cat	p.Y288H	SEPHS2_ENST00000542752.1_Missense_Mutation_p.Y231H|SEPHS2_ENST00000500504.2_Missense_Mutation_p.Y288H			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	288					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)	p.Y288H(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GCTTCCTGATAGGCCAGCTCC	0.483																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)											1	Substitution - Missense(1)	kidney(1)											105	103	104					16																	30456187		1992	4169	6161	SO:0001583	missense	22928			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.862T>C	16.37:g.30456187A>G	ENSP00000418669:p.Tyr288His		Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37		.	.	.	.	.	.	.	.	.	.	A	16.73	3.204409	0.58234	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.16897	2.31;2.31;2.31	5.74	4.65	0.58169	AIR synthase-related protein, C-terminal (2);	0.126712	0.56097	D	0.000038	T	0.31167	0.0788	M	0.69248	2.105	0.80722	D	1	P;P	0.37636	0.572;0.603	P;P	0.50970	0.596;0.655	T	0.02275	-1.1184	10	0.42905	T	0.14	-8.5777	10.0596	0.42266	0.9204:0.0:0.0796:0.0	.	288;231	Q99611;F5H8F9	SPS2_HUMAN;.	H	288;231;239;288	ENSP00000418669:Y288H;ENSP00000443601:Y231H;ENSP00000426234:Y288H	ENSP00000390233:Y239H	Y	-	1	0	SEPHS2	30363688	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	9.249000	0.95470	1.111000	0.41721	0.533000	0.62120	TAT		0.483	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		G	30456187	A	G	30456187	3	3	139	1	0	0	0	0	1	0	0	0	14061	420	15	3	488	3	SEPHS2	16	30456187	Missense_Mutation	SNP	A	TCGA-B0-4811-01A-01D-1501-10	749684	30456187	59898566	77	8286											
PRR14	78994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30667486	30667486	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:30667486G>A	ENST00000542965.2	+	11	2068	c.1612G>A	c.(1612-1614)Gtc>Atc	p.V538I	FBRS_ENST00000356166.6_5'Flank|PRR14_ENST00000300835.4_Missense_Mutation_p.V538I			Q9BWN1	PRR14_HUMAN	proline rich 14	538								p.V538I(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GTCCCGTGGGGTCCGGGCTGC	0.642																																																1	Substitution - Missense(1)	kidney(1)											58	66	63					16																	30667486		2197	4300	6497	SO:0001583	missense	78994			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1612G>A	16.37:g.30667486G>A	ENSP00000441641:p.Val538Ile		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	8.656	0.899312	0.17686	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.47177	0.85;0.85	6.07	4.13	0.48395	.	0.420046	0.24247	N	0.040209	T	0.32585	0.0834	L	0.29908	0.895	0.20196	N	0.999921	B	0.21821	0.061	B	0.16289	0.015	T	0.15321	-1.0441	10	0.20519	T	0.43	-1.6421	10.3433	0.43891	0.1532:0.0:0.8468:0.0	.	538	Q9BWN1	PRR14_HUMAN	I	511;538;538	ENSP00000300835:V538I;ENSP00000441641:V538I	ENSP00000287463:V511I	V	+	1	0	PRR14	30574987	0.991000	0.36638	0.813000	0.32504	0.154000	0.21943	2.640000	0.46579	0.911000	0.36747	-0.145000	0.13849	GTC		0.642	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		A	30667486	G	A	30667486	3	1	139	1	0	0	0	0	1	0	0	0	12591	1261	44	2	1654	2	PRR14	16	30667486	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	211299	30667486	59687267	78	8287											
IRX6	79190	broad.mit.edu	37	16	55362619	55362619	+	Silent	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:55362619T>C	ENST00000290552.7	+	5	2061	c.729T>C	c.(727-729)acT>acC	p.T243T	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	243					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T243T(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CAGAAGTTACTGCTAGCCAGG	0.587																																																1	Substitution - coding silent(1)	kidney(1)											42	50	47					16																	55362619		2174	4242	6416	SO:0001819	synonymous_variant	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.729T>C	16.37:g.55362619T>C			B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																				0.587	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		C	55362619	T	C	55362619	2	2	139	1	0	0	0	0	0	0	0	1	7850	1567	55	3		3	IRX6	16	55362619	Silent	SNP	T	TCGA-B0-4811-01A-01D-1501-10	24695133	55362619	34992134	79	8288											
CDH8	1006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	61854956	61854956	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:61854956C>G	ENST00000577390.1	-	6	1851	c.897G>C	c.(895-897)aaG>aaC	p.K299N	CDH8_ENST00000584337.1_Missense_Mutation_p.K299N|CDH8_ENST00000299345.6_Missense_Mutation_p.K299N|CDH8_ENST00000577730.1_Missense_Mutation_p.K299N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	299	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.K299N(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATCATTGGCCTTCACCCTTC	0.433																																																1	Substitution - Missense(1)	kidney(1)											148	111	123					16																	61854956		2203	4300	6503	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.897G>C	16.37:g.61854956C>G	ENSP00000462701:p.Lys299Asn		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650797	0.67472	.	.	ENSG00000150394	ENST00000299345	T	0.01745	4.66	6.16	-1.03	0.10102	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.03263	0.0095	N	0.17278	0.47	0.53688	D	0.999971	D;B	0.76494	0.999;0.338	D;B	0.78314	0.991;0.241	T	0.51284	-0.8725	10	0.51188	T	0.08	.	10.7283	0.46081	0.0:0.4093:0.0:0.5907	.	115;299	Q3LID3;P55286	.;CADH8_HUMAN	N	299	ENSP00000299345:K299N	ENSP00000299345:K299N	K	-	3	2	CDH8	60412457	0.826000	0.29277	0.997000	0.53966	0.998000	0.95712	-0.079000	0.11357	-0.025000	0.13918	0.650000	0.86243	AAG		0.433	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		G	61854956	C	G	61854956	3	3	139	1	0	0	0	0	1	0	0	0	3118	680	24	4	1530	4	CDH8	16	61854956	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	6492337	61854956	28499797	80	8289											
ESRP2	80004	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68264909	68264909	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:68264909G>C	ENST00000565858.1	-	13	1849	c.1763C>G	c.(1762-1764)aCc>aGc	p.T588S	ESRP2_ENST00000473183.2_Missense_Mutation_p.T578S|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	588					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T578S(2)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TTGGAAGGTGGTGTAGGTAGG	0.627																																																2	Substitution - Missense(2)	kidney(2)											145	140	142					16																	68264909		2198	4300	6498	SO:0001583	missense	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1763C>G	16.37:g.68264909G>C	ENSP00000454554:p.Thr588Ser		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37		.	.	.	.	.	.	.	.	.	.	G	11.68	1.712089	0.30322	.	.	ENSG00000103067	ENST00000473183	T	0.09817	2.94	5.94	3.94	0.45596	.	0.212986	0.48767	D	0.000166	T	0.05547	0.0146	N	0.08118	0	0.18873	N	0.999983	B;B	0.15930	0.0;0.015	B;B	0.13407	0.001;0.009	T	0.40365	-0.9567	10	0.15952	T	0.53	-6.4195	11.7534	0.51862	0.0:0.1333:0.7277:0.139	.	588;578	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	S	578	ENSP00000418748:T578S	ENSP00000418748:T578S	T	-	2	0	ESRP2	66822410	1.000000	0.71417	0.968000	0.41197	0.974000	0.67602	7.291000	0.78721	0.811000	0.34303	0.563000	0.77884	ACC		0.627	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		C	68264909	G	C	68264909	3	2	139	1	0	0	0	0	1	0	0	0	5261	1261	44	4	432	4	ESRP2	16	68264909	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	6409953	68264909	22089844	81	8290											
FTSJD1	55783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71318090	71318090	+	Silent	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:71318090T>A	ENST00000338099.5	-	3	2070	c.1734A>T	c.(1732-1734)atA>atT	p.I578I	CMTR2_ENST00000434935.2_Silent_p.I578I			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	578					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.I578I(1)									GCAGGCACTTTATTTGATTGC	0.423																																																1	Substitution - coding silent(1)	kidney(1)											51	49	50					16																	71318090		2198	4299	6497	SO:0001819	synonymous_variant	55783			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1734A>T	16.37:g.71318090T>A			B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Silent	SNP	ENST00000338099.5	37	CCDS10898.1																																																																																				0.423	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		A	71318090	T	A	71318090	2	1	139	1	0	0	0	0	0	0	0	1	6092	1744	61	5		5	FTSJD1	16	71318090	Silent	SNP	T	TCGA-B0-4811-01A-01D-1501-10	3053181	71318090	19036663	82	8291											
PRPF8	10594	broad.mit.edu;ucsc.edu	37	17	1564002	1564002	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:1564002T>A	ENST00000572621.1	-	28	4893	c.4628A>T	c.(4627-4629)aAt>aTt	p.N1543I	PRPF8_ENST00000304992.6_Missense_Mutation_p.N1543I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1543	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.N1543I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATTGGCTCGATTAATGGTCGG	0.493																																																1	Substitution - Missense(1)	kidney(1)											109	103	105					17																	1564002		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4628A>T	17.37:g.1564002T>A	ENSP00000460348:p.Asn1543Ile		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	t	22.5	4.304404	0.81136	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.86627	-2.15	6.17	6.17	0.99709	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95283	0.8388	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1543	Q6P2Q9	PRP8_HUMAN	I	1543;70	ENSP00000304350:N1543I	ENSP00000304350:N1543I	N	-	2	0	PRPF8	1510752	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.931000	0.87625	2.371000	0.80710	0.533000	0.62120	AAT		0.493	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			A	1564002	T	A	1564002	3	1	139	1	0	0	0	0	1	0	0	0	12580	1493	52	5	2439	5	PRPF8	17	1564002	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10		1564002	79631208	83	8292											
VMO1	284013	broad.mit.edu	37	17	4689557	4689557	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:4689557C>T	ENST00000328739.5	-	1	170	c.91G>A	c.(91-93)Ggc>Agc	p.G31S	VMO1_ENST00000416307.2_Missense_Mutation_p.G31S|VMO1_ENST00000441199.2_Missense_Mutation_p.G31S|VMO1_ENST00000354194.4_Missense_Mutation_p.G31S|GLTPD2_ENST00000331264.7_5'Flank	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	31						extracellular vesicular exosome (GO:0070062)		p.G31S(1)		kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GCCGTGTAGCCGTTCCGGCCA	0.652																																																1	Substitution - Missense(1)	kidney(1)											30	33	32					17																	4689557		2203	4300	6503	SO:0001583	missense	284013			AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.91G>A	17.37:g.4689557C>T	ENSP00000328397:p.Gly31Ser		C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	C	8.874	0.949900	0.18431	.	.	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000354194;ENST00000441199	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	4.71	1.63	0.23807	.	0.959470	0.08674	N	0.910511	T	0.55194	0.1905	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.27117	0.026;0.023;0.168;0.052	B;B;B;B	0.21708	0.003;0.007;0.036;0.005	T	0.36504	-0.9745	10	0.09338	T	0.73	-5.9514	5.9438	0.19207	0.0:0.6721:0.0:0.3279	.	31;31;31;31	C9JQ15;E9PAU9;E9PGP4;Q7Z5L0	.;.;.;VMO1_HUMAN	S	31	ENSP00000328397:G31S;ENSP00000390450:G31S;ENSP00000346133:G31S;ENSP00000408166:G31S	ENSP00000328397:G31S	G	-	1	0	VMO1	4636297	0.000000	0.05858	0.007000	0.13788	0.039000	0.13416	-0.136000	0.10405	0.426000	0.26116	0.563000	0.77884	GGC		0.652	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		T	4689557	C	T	4689557	3	4	139	1	0	0	0	0	1	0	0	0	17182	652	23	1	563	1	VMO1	17	4689557	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	3125555	4689557	76505653	84	8293											
CAMTA2	23125	broad.mit.edu;ucsc.edu	37	17	4877038	4877038	+	Silent	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:4877038T>C	ENST00000348066.3	-	13	2166	c.2043A>G	c.(2041-2043)gaA>gaG	p.E681E	CAMTA2_ENST00000358183.4_Silent_p.E681E|CAMTA2_ENST00000572543.1_Silent_p.E686E|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Silent_p.E683E|CAMTA2_ENST00000414043.3_Silent_p.E704E|CAMTA2_ENST00000361571.5_Silent_p.E680E	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	681					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.E681E(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTACCCGTGCTTCGAACCCAG	0.597																																																1	Substitution - coding silent(1)	kidney(1)											80	72	74					17																	4877038		2203	4300	6503	SO:0001819	synonymous_variant	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2043A>G	17.37:g.4877038T>C			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	ENST00000348066.3	37	CCDS11063.1																																																																																				0.597	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		C	4877038	T	C	4877038	2	2	139	1	0	0	0	0	0	0	0	1	2616	1606	56	3		3	CAMTA2	17	4877038	Silent	SNP	T	TCGA-B0-4811-01A-01D-1501-10	187481	4877038	76318172	85	8294											
ZNF232	7775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5009701	5009701	+	Silent	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:5009701A>G	ENST00000250076.3	-	5	1407	c.753T>C	c.(751-753)acT>acC	p.T251T	ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.T242T	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	224					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T251T(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TAGAGGTGTCAGTAGCAAGTT	0.493																																																1	Substitution - coding silent(1)	kidney(1)											111	107	108					17																	5009701		2203	4300	6503	SO:0001819	synonymous_variant	7775			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.753T>C	17.37:g.5009701A>G				Silent	SNP	ENST00000250076.3	37	CCDS11068.1																																																																																				0.493	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		G	5009701	A	G	5009701	2	3	139	1	0	0	0	0	0	0	0	1	17790	175	7	3		3	ZNF232	17	5009701	Silent	SNP	A	TCGA-B0-4811-01A-01D-1501-10	132663	5009701	76185509	86	8295											
MYH1	4619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10404734	10404734	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:10404734G>A	ENST00000226207.5	-	27	3525	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1144					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1144F(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCTCCCGGGAGAGATCAGA	0.597																																																1	Substitution - Missense(1)	kidney(1)											56	63	61					17																	10404734		2203	4299	6502	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3431C>T	17.37:g.10404734G>A	ENSP00000226207:p.Ser1144Phe		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997303	0.93167	.	.	ENSG00000109061	ENST00000226207	D	0.83419	-1.72	5.3	5.3	0.74995	Myosin tail (1);	0.000000	0.42964	U	0.000627	D	0.88104	0.6347	M	0.87269	2.87	0.80722	D	1	B	0.22541	0.071	B	0.33454	0.164	D	0.86811	0.1998	10	0.87932	D	0	.	19.3291	0.94278	0.0:0.0:1.0:0.0	.	1144	P12882	MYH1_HUMAN	F	1144	ENSP00000226207:S1144F	ENSP00000226207:S1144F	S	-	2	0	MYH1	10345459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.788000	0.99064	2.641000	0.89580	0.650000	0.86243	TCC		0.597	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10404734	G	A	10404734	3	1	139	1	0	0	0	0	1	0	0	0	10031	1174	41	2	2444	2	MYH1	17	10404734	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	5395033	10404734	70790476	87	8296											
SLC5A10	125206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18863863	18863863	+	Silent	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:18863863C>T	ENST00000395645.3	+	5	369	c.351C>T	c.(349-351)atC>atT	p.I117I	SLC5A10_ENST00000395643.2_Silent_p.I117I|SLC5A10_ENST00000417251.2_Silent_p.I117I|SLC5A10_ENST00000395647.2_Silent_p.I117I|SLC5A10_ENST00000395642.1_Silent_p.I61I|SLC5A10_ENST00000317977.6_Silent_p.I61I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	117					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I117I(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CTTCCCAGATCGTCACCTTAC	0.582											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											192	163	173					17																	18863863		2203	4300	6503	SO:0001819	synonymous_variant	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.351C>T	17.37:g.18863863C>T		728	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																				0.582	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		T	18863863	C	T	18863863	2	4	139	1	0	0	0	0	0	0	0	1	14668	874	31	1		1	SLC5A10	17	18863863	Silent	SNP	C	TCGA-B0-4811-01A-01D-1501-10	8459129	18863863	62331347	88	8297											
MYO18A	399687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27438508	27438508	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:27438508C>A	ENST00000527372.1	-	17	3014	c.2834G>T	c.(2833-2835)tGg>tTg	p.W945L	MYO18A_ENST00000531253.1_Missense_Mutation_p.W945L|MYO18A_ENST00000533112.1_Missense_Mutation_p.W945L|MYO18A_ENST00000354329.4_Missense_Mutation_p.W945L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	945	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.W945L(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTAGTTCAGCCAGCCAGTCAC	0.592											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(182;472 2015 7001 15270 22562)											2	Substitution - Missense(2)	kidney(2)											118	119	119					17																	27438508		2022	4182	6204	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2834G>T	17.37:g.27438508C>A	ENSP00000437073:p.Trp945Leu	794	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003567	0.93287	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	5.29	5.29	0.74685	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94532	0.8239	M	0.86953	2.85	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.99;0.997;0.997;0.997;0.999	D	0.95232	0.8343	10	0.87932	D	0	.	18.9329	0.92574	0.0:1.0:0.0:0.0	.	614;557;945;945;945	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	L	945;945;945;945;945;557	ENSP00000346291:W945L;ENSP00000435932:W945L;ENSP00000434228:W945L;ENSP00000437073:W945L	ENSP00000346291:W945L	W	-	2	0	MYO18A	24462634	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.399000	0.79935	2.468000	0.83385	0.563000	0.77884	TGG		0.592	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		A	27438508	C	A	27438508	3	1	139	1	0	0	0	0	1	0	0	0	10067	595	21	4	3434	4	MYO18A	17	27438508	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	8574645	27438508	53756702	89	8298			2	18		2	2	13	N	T_C	4.457738e-05
MYO18A	399687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27438520	27438520	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:27438520T>G	ENST00000527372.1	-	17	3002	c.2822A>C	c.(2821-2823)aAt>aCt	p.N941T	MYO18A_ENST00000531253.1_Missense_Mutation_p.N941T|MYO18A_ENST00000533112.1_Missense_Mutation_p.N941T|MYO18A_ENST00000354329.4_Missense_Mutation_p.N941T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	941	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.N941T(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCCAGTCACATTGTACTCTAC	0.592											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(182;472 2015 7001 15270 22562)											2	Substitution - Missense(2)	kidney(2)											118	122	121					17																	27438520		2045	4196	6241	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2822A>C	17.37:g.27438520T>G	ENSP00000437073:p.Asn941Thr	794	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371312	0.42003	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.29	4.22	0.49857	Myosin head, motor domain (2);	0.207796	0.49916	D	0.000122	T	0.70090	0.3184	L	0.46885	1.475	0.36559	D	0.872339	B;P;P;P;P	0.46142	0.1;0.873;0.873;0.873;0.837	B;B;P;B;P	0.49683	0.087;0.367;0.461;0.367;0.619	T	0.74153	-0.3757	10	0.46703	T	0.11	.	10.9548	0.47351	0.0:0.0737:0.0:0.9263	.	610;553;941;941;941	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	T	941;941;941;941;941;553	ENSP00000346291:N941T;ENSP00000435932:N941T;ENSP00000434228:N941T;ENSP00000437073:N941T	ENSP00000346291:N941T	N	-	2	0	MYO18A	24462646	1.000000	0.71417	0.724000	0.30704	0.470000	0.32858	5.894000	0.69806	0.855000	0.35359	-0.376000	0.06991	AAT		0.592	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		G	27438520	T	G	27438520	3	3	139	1	0	0	0	0	1	0	0	0	10067	1493	52	5	3446	5	MYO18A	17	27438520	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	12	27438520	53756690	90	8299			2	18		2	2	13	N	T_C	4.457738e-05
TAF15	8148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34147197	34147197	+	Silent	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:34147197T>C	ENST00000588240.1	+	4	244	c.129T>C	c.(127-129)gaT>gaC	p.D43D	TAF15_ENST00000311979.3_Silent_p.D43D|TAF15_ENST00000592237.1_5'UTR|AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.D43D(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAACGACTGATTCCTCTTATG	0.348			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																		Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	1	Substitution - coding silent(1)	kidney(1)											139	140	140					17																	34147197		2203	4300	6503	SO:0001819	synonymous_variant	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.129T>C	17.37:g.34147197T>C			D3DPM5|Q15775|Q5T077	Silent	SNP	ENST00000588240.1	37	CCDS32623.1																																																																																				0.348	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		C	34147197	T	C	34147197	2	2	139	1	0	0	0	0	0	0	0	1	15523	1490	52	3		3	TAF15	17	34147197	Silent	SNP	T	TCGA-B0-4811-01A-01D-1501-10	6708677	34147197	47048013	91	8300											
COASY	80347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40715165	40715165	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:40715165G>A	ENST00000393818.2	+	1	981	c.525G>A	c.(523-525)agG>agA	p.R175R	COASY_ENST00000420359.1_Silent_p.R175R|COASY_ENST00000590958.1_Silent_p.R204R|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000421097.2_Silent_p.R175R|COASY_ENST00000449624.1_5'UTR	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	175					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.R175R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCACGATCAGGCCAGCTTCCC	0.642																																																1	Substitution - coding silent(1)	kidney(1)											62	66	65					17																	40715165		2203	4300	6503	SO:0001819	synonymous_variant	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.525G>A	17.37:g.40715165G>A			B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416321	0.25552	.	.	ENSG00000068120	ENST00000426807	.	.	.	4.72	1.49	0.22878	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57154	-0.7860	5	0.87932	D	0	-13.1065	4.3297	0.11057	0.22:0.1851:0.595:0.0	.	.	.	.	T	151	.	ENSP00000390306:A151T	A	+	1	0	COASY	37968691	0.997000	0.39634	0.988000	0.46212	0.840000	0.47671	1.722000	0.38042	0.261000	0.21753	0.561000	0.74099	GCC		0.642	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		A	40715165	G	A	40715165	2	1	139	1	0	0	0	0	0	0	0	1	3654	1194	42	2		2	COASY	17	40715165	Silent	SNP	G	TCGA-B0-4811-01A-01D-1501-10	6567968	40715165	40480045	92	8301											
TMUB2	79089	broad.mit.edu	37	17	42266658	42266658	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:42266658C>A	ENST00000587989.1	+	3	457	c.304C>A	c.(304-306)Cca>Aca	p.P102T	ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000357984.3_Missense_Mutation_p.P82T|TMUB2_ENST00000587172.1_Missense_Mutation_p.P82T|TMUB2_ENST00000589785.1_Missense_Mutation_p.P82T|TMUB2_ENST00000538716.2_Missense_Mutation_p.P102T|TMUB2_ENST00000589856.1_Missense_Mutation_p.P82T|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000592825.1_Missense_Mutation_p.P82T|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000319511.6_Missense_Mutation_p.P82T|ASB16-AS1_ENST00000585457.1_RNA|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000590235.1_Missense_Mutation_p.P82T|TMUB2_ENST00000446571.3_Missense_Mutation_p.P82T			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	102						integral component of membrane (GO:0016021)		p.P82T(1)|p.P102T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACTCCCCCATCCATCAGAGGG	0.622																																																2	Substitution - Missense(2)	kidney(2)											71	73	72					17																	42266658		2203	4300	6503	SO:0001583	missense	79089				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.304C>A	17.37:g.42266658C>A	ENSP00000466971:p.Pro102Thr		B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279854	0.40294	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.43294	0.95;0.98;0.96;0.98	5.2	3.16	0.36331	.	0.330157	0.31461	N	0.007610	T	0.42899	0.1223	L	0.47716	1.5	0.31149	N	0.705671	B;D;B;P	0.55385	0.281;0.971;0.16;0.651	B;P;B;B	0.52957	0.027;0.714;0.056;0.122	T	0.44283	-0.9338	10	0.31617	T	0.26	.	8.3835	0.32486	0.0:0.6172:0.2991:0.0836	.	82;82;82;102	E7ESS3;Q71RG4-3;Q71RG4-4;Q71RG4	.;.;.;TMUB2_HUMAN	T	82;82;102;82	ENSP00000413127:P82T;ENSP00000350672:P82T;ENSP00000444565:P102T;ENSP00000313214:P82T	ENSP00000313214:P82T	P	+	1	0	TMUB2	39622184	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.101000	0.15251	1.126000	0.42016	0.555000	0.69702	CCA		0.622	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		A	42266658	C	A	42266658	3	1	139	1	0	0	0	0	1	0	0	0	16270	855	30	4	310	4	TMUB2	17	42266658	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	1551493	42266658	38928552	93	8302											
CLTC	1213	broad.mit.edu;ucsc.edu	37	17	57746161	57746161	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:57746161A>T	ENST00000269122.3	+	14	2426	c.2152A>T	c.(2152-2154)Att>Ttt	p.I718F	CLTC_ENST00000393043.1_Missense_Mutation_p.I718F|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	718	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.I718F(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCTGGGATCCATTGTTAACTT	0.333			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	1	Substitution - Missense(1)	kidney(1)											127	120	123					17																	57746161		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2152A>T	17.37:g.57746161A>T	ENSP00000269122:p.Ile718Phe		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.925400	0.92319	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.51817	0.69;0.69	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71567	0.3355	M	0.83012	2.62	0.80722	D	1	D;B	0.54207	0.965;0.121	D;P	0.74674	0.984;0.495	T	0.75513	-0.3291	10	0.62326	D	0.03	.	15.9993	0.80280	1.0:0.0:0.0:0.0	.	718;718	Q00610;Q00610-2	CLH1_HUMAN;.	F	718	ENSP00000269122:I718F;ENSP00000376763:I718F	ENSP00000269122:I718F	I	+	1	0	CLTC	55100943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.184000	0.69523	0.383000	0.25322	ATT		0.333	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		T	57746161	A	T	57746161	3	4	139	1	0	0	0	0	1	0	0	0	3568	217	8	5	2206	5	CLTC	17	57746161	Missense_Mutation	SNP	A	TCGA-B0-4811-01A-01D-1501-10	15479503	57746161	23449049	94	8303											
RAC3	5881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79990881	79990881	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:79990881C>T	ENST00000306897.4	+	4	422	c.284C>T	c.(283-285)gCc>gTc	p.A95V		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	95					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A95V(1)		NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AATGTTCGTGCCAAGGTAGGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											64	71	69					17																	79990881		2203	4300	6503	SO:0001583	missense	5881			AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"Endogenous ligands"	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.284C>T	17.37:g.79990881C>T	ENSP00000304283:p.Ala95Val		O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205156	0.79127	.	.	ENSG00000169750	ENST00000306897	T	0.69806	-0.43	3.72	3.72	0.42706	Small GTP-binding protein domain (1);	0.129140	0.52532	D	0.000079	T	0.56337	0.1978	N	0.19112	0.55	0.80722	D	1	B	0.25105	0.118	B	0.36922	0.236	T	0.52109	-0.8619	9	.	.	.	.	15.6871	0.77421	0.0:1.0:0.0:0.0	.	95	P60763	RAC3_HUMAN	V	95	ENSP00000304283:A95V	.	A	+	2	0	RAC3	77584170	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.442000	0.80503	1.909000	0.55274	0.561000	0.74099	GCC		0.602	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			T	79990881	C	T	79990881	3	4	139	1	0	0	0	0	1	0	0	0	12982	739	26	2	298	2	RAC3	17	79990881	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	22244720	79990881	1204329	95	8304											
EPB41L3	23136	broad.mit.edu;hgsc.bcm.edu	37	18	5396318	5396318	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr18:5396318T>A	ENST00000341928.2	-	19	3195	c.2855A>T	c.(2854-2856)aAg>aTg	p.K952M	EPB41L3_ENST00000540638.2_Missense_Mutation_p.K730M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K730M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K952M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K783M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.K257M|EPB41L3_ENST00000427684.2_Missense_Mutation_p.K249M|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	952	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.K952M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTTTCCGTCTTCACCGTTGA	0.453																																																1	Substitution - Missense(1)	kidney(1)											149	129	136					18																	5396318		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2855A>T	18.37:g.5396318T>A	ENSP00000343158:p.Lys952Met		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254797	0.59212	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;T;T;D;D	0.85702	-1.72;-1.85;-0.4;-0.41;-1.72;-2.02	5.84	3.36	0.38483	.	0.387514	0.30101	N	0.010412	D	0.90010	0.6881	M	0.71581	2.175	0.41702	D	0.989409	D;D;D;D;P;D;D;D	0.76494	0.983;0.999;0.999;0.994;0.828;0.971;0.998;0.996	P;D;D;P;P;D;D;D	0.74348	0.885;0.983;0.978;0.873;0.514;0.919;0.95;0.928	D	0.88793	0.3279	10	0.87932	D	0	.	9.0764	0.36525	0.0:0.0653:0.1255:0.8092	.	783;249;257;344;621;730;952;187	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	M	952;621;783;621;249;257;952;730	ENSP00000343158:K952M;ENSP00000441174:K783M;ENSP00000392195:K249M;ENSP00000442233:K257M;ENSP00000341138:K952M;ENSP00000382981:K730M	ENSP00000343158:K952M	K	-	2	0	EPB41L3	5386318	1.000000	0.71417	0.991000	0.47740	0.416000	0.31233	3.470000	0.53100	0.426000	0.26116	0.528000	0.53228	AAG		0.453	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		A	5396318	T	A	5396318	3	1	139	1	0	0	0	0	1	0	0	0	5156	1609	56	5	424	5	EPB41L3	18	5396318	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10		5396318	72680930	96	8305											
FAM59A	64762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29847906	29847906	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr18:29847906C>A	ENST00000269209.6	-	6	2562	c.2559G>T	c.(2557-2559)gaG>gaT	p.E853D	GAREM_ENST00000399218.4_Missense_Mutation_p.E852D			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	853	SAM.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.E852D(1)									ATTTGAAATCCTCTGAGAGGA	0.413																																																1	Substitution - Missense(1)	kidney(1)											42	43	42					18																	29847906		2203	4300	6503	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2559G>T	18.37:g.29847906C>A	ENSP00000269209:p.Glu853Asp		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	3.651	-0.071449	0.07228	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.12879	2.64;2.64	5.6	4.72	0.59763	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	N	0.21583	0.68	0.58432	D	0.999999	D;P	0.69078	0.997;0.724	D;B	0.72625	0.978;0.183	T	0.03443	-1.1036	10	0.06099	T	0.92	-28.1458	11.1972	0.48719	0.0:0.8612:0.0:0.1388	.	853;852	Q9H706;Q9H706-3	FA59A_HUMAN;.	D	852;853	ENSP00000382165:E852D;ENSP00000269209:E853D	ENSP00000269209:E853D	E	-	3	2	FAM59A	28101904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.718000	0.38001	2.649000	0.89929	0.650000	0.86243	GAG		0.413	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		A	29847906	C	A	29847906	3	1	139	1	0	0	0	0	1	0	0	0	5594	680	24	4	75	4	FAM59A	18	29847906	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	24451588	29847906	48229342	97	8306											
SERPINB8	5271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61654390	61654390	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr18:61654390G>A	ENST00000397985.2	+	7	1259	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.V335I|SERPINB8_ENST00000542677.1_Missense_Mutation_p.V153I	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	335					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V335I(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CACTGCTGTGGTCAGGAATTC	0.517																																																1	Substitution - Missense(1)	kidney(1)											69	67	67					18																	61654390		2203	4300	6503	SO:0001583	missense	5271			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.1003G>A	18.37:g.61654390G>A	ENSP00000381072:p.Val335Ile		B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	G	1.854	-0.464309	0.04476	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;D	0.84516	-1.86;-1.86;-1.86	5.65	0.64	0.17752	Serpin domain (3);	0.645425	0.16298	N	0.220586	T	0.63616	0.2526	N	0.08118	0	0.09310	N	0.999994	B	0.06786	0.001	B	0.15484	0.013	T	0.48592	-0.9022	10	0.11485	T	0.65	.	5.324	0.15896	0.3962:0.0:0.4641:0.1397	.	335	P50452	SPB8_HUMAN	I	335;335;153	ENSP00000381072:V335I;ENSP00000331368:V335I;ENSP00000438328:V153I	ENSP00000331368:V335I	V	+	1	0	SERPINB8	59805370	0.000000	0.05858	0.996000	0.52242	0.646000	0.38490	-0.152000	0.10159	0.259000	0.21709	0.655000	0.94253	GTC		0.517	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		A	61654390	G	A	61654390	3	1	139	1	0	0	0	0	1	0	0	0	14113	1261	44	2	1038	2	SERPINB8	18	61654390	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	31806484	61654390	16422858	98	8307											
MUC16	94025	hgsc.bcm.edu	37	19	9048364	9048369	+	In_Frame_Del	DEL	AGTTGG	AGTTGG	-	rs184817144	byFrequency	TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	AGTTGG	AGTTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:9048364_9048369delAGTTGG	ENST00000397910.4	-	5	33465_33470	c.33262_33267delCCAACT	c.(33262-33267)ccaactdel	p.PT11088del		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11090	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P11088Q(1)|p.P6721Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGTGAAACAGTTGGAGTTGGAACA	0.485																																																2	Substitution - Missense(2)	lung(2)																																								SO:0001651	inframe_deletion	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33262_33267delCCAACT	19.37:g.9048370_9048375delAGTTGG	ENSP00000381008:p.Pro11088_Thr11089del		Q6ZQW5|Q96RK2	In_Frame_Del	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																				0.485	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		-	9048369	AGTTGG	-	9048364	7	5	139	1	0	1	0	1	0	0	0	0	9975	175	7	0	10576	0	MUC16	19	9048364	In_Frame_Del	DEL	AGTTGG	TCGA-B0-4811-01A-01D-1501-10		9048364	50080619	99	8308											
ZNF799	90576	broad.mit.edu;hgsc.bcm.edu	37	19	12501322	12501322	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:12501322delA	ENST00000430385.3	-	4	2090	c.1890delT	c.(1888-1890)tttfs	p.F630fs	ZNF799_ENST00000419318.1_Frame_Shift_Del_p.F598fs|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGAGAGAAGCAAATGCTTTCC	0.368																																																0													107	112	110					19																	12501322		2203	4299	6502	SO:0001589	frameshift_variant	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1890delT	19.37:g.12501322delA	ENSP00000411084:p.Phe630fs			Frame_Shift_Del	DEL	ENST00000430385.3	37	CCDS45989.1																																																																																				0.368	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		-	12501322	A	-	12501322	7	5	139	1	0	1	0	1	0	0	0	0	18171	127	5	0	45	0	ZNF799	19	12501322	Frame_Shift_Del	DEL	A	TCGA-B0-4811-01A-01D-1501-10	3452958	12501322	46627661	100	8309											
SLC27A1	376497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17611618	17611618	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:17611618G>T	ENST00000252595.7	+	10	1666	c.1569G>T	c.(1567-1569)gaG>gaT	p.E523D	SLC27A1_ENST00000442725.1_Missense_Mutation_p.E523D|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000598424.1_Missense_Mutation_p.E344D|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	523					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.E523D(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCACCACCGAGGTGGAGGGCG	0.657																																																2	Substitution - Missense(2)	kidney(2)											58	55	56					19																	17611618		2203	4300	6503	SO:0001583	missense	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1569G>T	19.37:g.17611618G>T	ENSP00000252595:p.Glu523Asp		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414432	0.62511	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.72835	-0.69;-0.69	4.54	2.4	0.29515	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	M	0.93854	3.465	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.83643	0.0151	10	0.87932	D	0	-34.2203	5.7376	0.18075	0.3205:0.0:0.6795:0.0	.	344;523	B7Z662;Q6PCB7	.;S27A1_HUMAN	D	523	ENSP00000413424:E523D;ENSP00000252595:E523D	ENSP00000252595:E523D	E	+	3	2	SLC27A1	17472618	1.000000	0.71417	0.997000	0.53966	0.665000	0.39181	1.695000	0.37763	0.916000	0.36871	0.561000	0.74099	GAG		0.657	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		T	17611618	G	T	17611618	3	4	139	1	0	0	0	0	1	0	0	0	14531	991	35	4	1607	4	SLC27A1	19	17611618	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	5110296	17611618	41517365	101	8310											
PDE4C	5143	broad.mit.edu	37	19	18322678	18322678	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:18322678G>A	ENST00000355502.3	-	18	2553	c.1682C>T	c.(1681-1683)aCg>aTg	p.T561M	AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000262805.12_Missense_Mutation_p.T529M|PDE4C_ENST00000594465.3_Missense_Mutation_p.T561M|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.T561M|PDE4C_ENST00000447275.3_Missense_Mutation_p.T455M|PDE4C_ENST00000598111.2_Missense_Mutation_p.T276M|PDE4C_ENST00000539010.1_Missense_Mutation_p.T330M|PDE4C_ENST00000597297.1_Missense_Mutation_p.T331M			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	561					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.T561M(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GATGCGGTCCGTCCACTGGCG	0.617																																																1	Substitution - Missense(1)	kidney(1)											95	77	83					19																	18322678		2203	4300	6503	SO:0001583	missense	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1682C>T	19.37:g.18322678G>A	ENSP00000347689:p.Thr561Met		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186100	0.78789	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.85	4.85	0.62838	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.89206	0.6649	L	0.58302	1.8	0.48632	D	0.999688	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.90392	0.4396	10	0.87932	D	0	.	15.4628	0.75373	0.0:0.0:1.0:0.0	.	561;529;367;276	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	M	640;561;549;529;455;367;275;330;670	ENSP00000347689:T561M;ENSP00000262805:T529M;ENSP00000402091:T455M;ENSP00000439470:T330M	ENSP00000262805:T529M	T	-	2	0	PDE4C	18183678	1.000000	0.71417	0.928000	0.36995	0.543000	0.35085	9.377000	0.97184	2.249000	0.74217	0.561000	0.74099	ACG		0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			A	18322678	G	A	18322678	3	1	139	1	0	0	0	0	1	0	0	0	11643	1145	40	1	464	1	PDE4C	19	18322678	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	711060	18322678	40806305	102	8311											
ZNF345	25850	hgsc.bcm.edu	37	19	37368165	37368166	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:37368165_37368166insT	ENST00000529555.1	+	2	1221_1222	c.433_434insT	c.(433-435)cccfs	p.P145fs	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Frame_Shift_Ins_p.P145fs|ZNF345_ENST00000589046.1_Frame_Shift_Ins_p.P145fs|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	145					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGTGAGAAACCCTATGAGTGT	0.426																																																0																																										SO:0001589	frameshift_variant	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	Exception_encountered	19.37:g.37368165_37368166insT	ENSP00000431202:p.Pro145fs			Frame_Shift_Ins	INS	ENST00000529555.1	37	CCDS12497.1																																																																																				0.426	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			T	37368166	-	T	37368165	7	5	139	1	0	1	1	0	0	0	0	0	17864	507	18	0	435	0	ZNF345	19	37368165	Frame_Shift_Ins	INS	-	TCGA-B0-4811-01A-01D-1501-10	19045487	37368165	21760818	103	8312	68	2									
ZNF345	25850	hgsc.bcm.edu	37	19	37368169	37368169	+	Frame_Shift_Del	DEL	A	A	-	rs559952114		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:37368169delA	ENST00000529555.1	+	2	1225	c.437delA	c.(436-438)tatfs	p.Y146fs	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Frame_Shift_Del_p.Y146fs|ZNF345_ENST00000589046.1_Frame_Shift_Del_p.Y146fs|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	146					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCCTATGAGTGTAAG	0.428																																																0													68	67	67					19																	37368169		2203	4300	6503	SO:0001589	frameshift_variant	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.437delA	19.37:g.37368169delA	ENSP00000431202:p.Tyr146fs			Frame_Shift_Del	DEL	ENST00000529555.1	37	CCDS12497.1																																																																																				0.428	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			-	37368169	A	-	37368169	7	5	139	1	0	1	0	1	0	0	0	0	17864	449	16	0	439	0	ZNF345	19	37368169	Frame_Shift_Del	DEL	A	TCGA-B0-4811-01A-01D-1501-10	4	37368169	21760814	104	8313	68	2									
LENG9	94059	broad.mit.edu;ucsc.edu	37	19	54973869	54973869	+	Missense_Mutation	SNP	G	G	C	rs373957553		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:54973869G>C	ENST00000333834.4	-	1	1025	c.907C>G	c.(907-909)Ccc>Gcc	p.P303A		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	303							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)	p.P281A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		TTGTCCTCGGGCCAGGCCGCA	0.662																																																1	Substitution - Missense(1)	kidney(1)											36	38	38					19																	54973869		2203	4300	6503	SO:0001583	missense	94059			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.907C>G	19.37:g.54973869G>C	ENSP00000331647:p.Pro303Ala		B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	G	6.460	0.452961	0.12283	.	.	ENSG00000182909	ENST00000333834	T	0.32988	1.43	2.83	-1.41	0.08941	.	0.397506	0.18072	U	0.152585	T	0.15392	0.0371	L	0.32530	0.975	0.09310	N	1	B	0.21452	0.056	B	0.19148	0.024	T	0.12293	-1.0553	10	0.33940	T	0.23	-0.8068	0.5313	0.00629	0.1924:0.2323:0.3393:0.2361	.	303	Q96B70	LENG9_HUMAN	A	303	ENSP00000331647:P303A	ENSP00000331647:P303A	P	-	1	0	LENG9	59665681	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.252000	0.08806	-0.205000	0.10219	0.555000	0.69702	CCC		0.662	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		C	54973869	G	C	54973869	3	2	139	1	0	0	0	0	1	0	0	0	8727	1203	42	4	602	4	LENG9	19	54973869	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	17605700	54973869	4155114	105	8314											
ZNF256	10172	broad.mit.edu	37	19	58453894	58453894	+	Silent	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:58453894T>A	ENST00000282308.3	-	3	478	c.282A>T	c.(280-282)atA>atT	p.I94I	ZNF256_ENST00000598928.1_Missense_Mutation_p.Y52F	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	94	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I94I(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CTGGGCCACATATCTCACAGG	0.502																																					NSCLC(55;1313 1552 8040 11996)											2	Substitution - coding silent(2)	kidney(2)											155	145	148					19																	58453894		2203	4300	6503	SO:0001819	synonymous_variant	10172			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"Zinc fingers, C2H2-type", "-"	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.282A>T	19.37:g.58453894T>A			B2RA92|Q53Y85|Q9BV71	Silent	SNP	ENST00000282308.3	37	CCDS12966.1																																																																																				0.502	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			A	58453894	T	A	58453894	2	1	139	1	0	0	0	0	0	0	0	1	17804	1396	49	5		5	ZNF256	19	58453894	Silent	SNP	T	TCGA-B0-4811-01A-01D-1501-10	3480025	58453894	675089	106	8315	69	2									
ZNF256	10172	broad.mit.edu	37	19	58453896	58453896	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:58453896T>G	ENST00000282308.3	-	3	476	c.280A>C	c.(280-282)Ata>Cta	p.I94L	ZNF256_ENST00000598928.1_Missense_Mutation_p.R51S	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	94	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I94L(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGGCCACATATCTCACAGGGG	0.502																																					NSCLC(55;1313 1552 8040 11996)											2	Substitution - Missense(2)	kidney(2)											151	142	145					19																	58453896		2203	4300	6503	SO:0001583	missense	10172			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"Zinc fingers, C2H2-type", "-"	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.280A>C	19.37:g.58453896T>G	ENSP00000282308:p.Ile94Leu		B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	12.93	2.086416	0.36855	.	.	ENSG00000152454	ENST00000282308	T	0.27557	1.66	3.42	2.39	0.29439	Zinc finger, C2H2-like (1);Krueppel-associated box (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.18593	0.0446	N	0.16233	0.39	0.09310	N	1	B	0.17465	0.022	B	0.23716	0.048	T	0.24440	-1.0160	9	0.39692	T	0.17	.	6.8699	0.24115	0.0:0.1174:0.0:0.8826	.	94	Q9Y2P7	ZN256_HUMAN	L	94	ENSP00000282308:I94L	ENSP00000282308:I94L	I	-	1	0	ZNF256	63145708	0.000000	0.05858	0.001000	0.08648	0.513000	0.34164	0.741000	0.26202	0.513000	0.28278	0.383000	0.25322	ATA		0.502	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			G	58453896	T	G	58453896	3	3	139	1	0	0	0	0	1	0	0	0	17804	1435	50	5	1607	5	ZNF256	19	58453896	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	2	58453896	675087	107	8316	69	2									
ANGPT4	51378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	896710	896710	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr20:896710G>A	ENST00000381922.3	-	1	250	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	ANGPT4_ENST00000546022.1_Missense_Mutation_p.P50S	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	50					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.P50S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCAGACTTGGGCAGCAAGAAG	0.612																																					Pancreas(181;481 2077 3259 31286 49856)											1	Substitution - Missense(1)	kidney(1)											115	111	113					20																	896710		2203	4300	6503	SO:0001583	missense	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.148C>T	20.37:g.896710G>A	ENSP00000371347:p.Pro50Ser		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578707	0.46006	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13538	2.58;2.58	4.57	3.62	0.41486	.	0.000000	0.45126	D	0.000385	T	0.20577	0.0495	M	0.74647	2.275	0.45594	D	0.998539	D;P	0.56968	0.978;0.901	P;B	0.47134	0.539;0.406	T	0.01810	-1.1269	10	0.62326	D	0.03	.	8.2372	0.31634	0.108:0.0:0.892:0.0	.	50;50	B4E3J9;Q9Y264	.;ANGP4_HUMAN	S	50	ENSP00000371347:P50S;ENSP00000439605:P50S	ENSP00000371347:P50S	P	-	1	0	ANGPT4	844710	1.000000	0.71417	0.873000	0.34254	0.232000	0.25224	5.750000	0.68712	1.151000	0.42436	0.305000	0.20034	CCC		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		A	896710	G	A	896710	3	1	139	1	0	0	0	0	1	0	0	0	612	1203	42	2	1399	2	ANGPT4	20	896710	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10		896710	62128810	108	8317											
GZF1	64412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	23345603	23345603	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr20:23345603G>T	ENST00000338121.5	+	2	660	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	GZF1_ENST00000377051.2_Missense_Mutation_p.D195Y|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	195					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.D195Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CATGTCTTCAGATTTGCCACC	0.542																																																1	Substitution - Missense(1)	kidney(1)											48	51	50					20																	23345603		2203	4300	6503	SO:0001583	missense	64412			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.583G>T	20.37:g.23345603G>T	ENSP00000338290:p.Asp195Tyr		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783014	0.16189	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.10382	2.88;2.88	4.08	1.99	0.26369	.	0.399304	0.19906	N	0.103409	T	0.09335	0.0230	L	0.29908	0.895	0.21740	N	0.99957	P	0.49447	0.924	P	0.44732	0.459	T	0.14924	-1.0455	10	0.72032	D	0.01	.	8.3783	0.32455	0.0879:0.1549:0.7572:0.0	.	195	Q9H116	GZF1_HUMAN	Y	195	ENSP00000338290:D195Y;ENSP00000366250:D195Y	ENSP00000338290:D195Y	D	+	1	0	GZF1	23293603	0.001000	0.12720	0.005000	0.12908	0.007000	0.05969	0.905000	0.28504	0.939000	0.37446	0.637000	0.83480	GAT		0.542	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		T	23345603	G	T	23345603	3	4	139	1	0	0	0	0	1	0	0	0	6916	942	33	4	585	4	GZF1	20	23345603	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	22448893	23345603	39679917	109	8318											
PDRG1	81572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30538174	30538174	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr20:30538174G>A	ENST00000202017.4	-	2	234	c.104C>T	c.(103-105)aCt>aTt	p.T35I		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	35					protein folding (GO:0006457)	cytoplasm (GO:0005737)|prefoldin complex (GO:0016272)		p.T35I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATTCCTTTTAGTGTCCAGGTC	0.527																																																1	Substitution - Missense(1)	kidney(1)											83	81	82					20																	30538174		2203	4300	6503	SO:0001583	missense	81572			AL031658	CCDS13194.1	20q11.21	2009-06-12	2009-06-12	2004-10-07	ENSG00000088356	ENSG00000088356			16119	protein-coding gene	gene with protein product		610789	"chromosome 20 open reading frame 126"	C20orf126		14562055	Standard	NM_030815		Approved	dJ310O13.3	uc002wxd.3	Q9NUG6	OTTHUMG00000032196	ENST00000202017.4:c.104C>T	20.37:g.30538174G>A	ENSP00000202017:p.Thr35Ile		B2R511|Q96GP3|Q9BUW8	Missense_Mutation	SNP	ENST00000202017.4	37	CCDS13194.1	.	.	.	.	.	.	.	.	.	.	G	7.860	0.725861	0.15439	.	.	ENSG00000088356	ENST00000202017	T	0.46819	0.86	4.18	3.22	0.36961	Prefoldin beta-like (1);	0.936195	0.09135	N	0.843835	T	0.29158	0.0725	N	0.16478	0.41	0.27362	N	0.955934	B	0.19817	0.039	B	0.15870	0.014	T	0.09357	-1.0678	10	0.23302	T	0.38	-5.0751	7.1673	0.25698	0.1186:0.0:0.8814:0.0	.	35	Q9NUG6	PDRG1_HUMAN	I	35	ENSP00000202017:T35I	ENSP00000202017:T35I	T	-	2	0	PDRG1	30001835	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.722000	0.38042	2.302000	0.77476	0.563000	0.77884	ACT		0.527	PDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078593.2	NM_030815		A	30538174	G	A	30538174	3	1	139	1	0	0	0	0	1	0	0	0	11692	1029	36	2	313	2	PDRG1	20	30538174	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10	7192571	30538174	32487346	110	8319											
ARFGEF2	10564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47604916	47604916	+	Silent	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr20:47604916C>T	ENST00000371917.4	+	17	2352	c.2352C>T	c.(2350-2352)caC>caT	p.H784H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	784	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.H784H(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGACTTGCACAGTCCTCAGG	0.348																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											1	Substitution - coding silent(1)	kidney(1)											69	56	61					20																	47604916		2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2352C>T	20.37:g.47604916C>T			Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	CCDS13411.1																																																																																				0.348	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		T	47604916	C	T	47604916	2	4	139	1	0	0	0	0	0	0	0	1	853	477	17	2		2	ARFGEF2	20	47604916	Silent	SNP	C	TCGA-B0-4811-01A-01D-1501-10	17066742	47604916	15420604	111	8320											
LAMA5	3911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	60895846	60895846	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr20:60895846G>A	ENST00000252999.3	-	49	6663	c.6597C>T	c.(6595-6597)tcC>tcT	p.S2199S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2199	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.S2199S(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCCAGGCCATGGAGCTGGCAT	0.662																																																1	Substitution - coding silent(1)	kidney(1)											48	43	45					20																	60895846		2179	4280	6459	SO:0001819	synonymous_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6597C>T	20.37:g.60895846G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																				0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		A	60895846	G	A	60895846	2	1	139	1	0	0	0	0	0	0	0	1	8611	1335	47	2		2	LAMA5	20	60895846	Silent	SNP	G	TCGA-B0-4811-01A-01D-1501-10	13290930	60895846	2129674	112	8321											
MCM3AP	8888	broad.mit.edu;ucsc.edu	37	21	47685911	47685911	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr21:47685911T>A	ENST00000397708.1	-	12	3213	c.2959A>T	c.(2959-2961)Aac>Tac	p.N987Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.N987Y			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	987	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.N987Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATGTACTTGTTCTGGGAGTTG	0.607																																																1	Substitution - Missense(1)	kidney(1)											102	107	106					21																	47685911		2203	4300	6503	SO:0001583	missense	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2959A>T	21.37:g.47685911T>A	ENSP00000380820:p.Asn987Tyr		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029397	0.75504	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.04454	3.62;3.62	5.67	3.26	0.37387	.	0.079888	0.85682	D	0.000000	T	0.12987	0.0315	M	0.61703	1.905	0.48087	D	0.999587	D	0.64830	0.994	P	0.62089	0.898	T	0.02037	-1.1225	10	0.34782	T	0.22	-24.2391	8.3183	0.32113	0.0:0.0689:0.1336:0.7975	.	987	O60318	MCM3A_HUMAN	Y	987	ENSP00000380820:N987Y;ENSP00000291688:N987Y	ENSP00000291688:N987Y	N	-	1	0	MCM3AP	46510339	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.756000	0.62205	0.408000	0.25621	0.533000	0.62120	AAC		0.607	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		A	47685911	T	A	47685911	3	1	139	1	0	0	0	0	1	0	0	0	9390	1783	62	5	3055	5	MCM3AP	21	47685911	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10		47685911	443984	113	8322											
IL2RB	3560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	37539570	37539570	+	Missense_Mutation	SNP	G	G	A	rs371340355		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr22:37539570G>A	ENST00000216223.5	-	3	392	c.194C>T	c.(193-195)cCg>cTg	p.P65L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	65					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)	p.P65L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCGTCTGTCCGGCCAGGCATG	0.537																																																1	Substitution - Missense(1)	kidney(1)						G	LEU/PRO	0,4406		0,0,2203	69	59	63		194	3.7	0	22		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL2RB	NM_000878.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	65/552	37539570	1,13005	2203	4300	6503	SO:0001583	missense	3560			M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.194C>T	22.37:g.37539570G>A	ENSP00000216223:p.Pro65Leu		B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066410	0.55539	0.0	1.16E-4	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	4.75	3.71	0.42584	Fibronectin, type III (1);	1.080800	0.07065	N	0.834429	D	0.96034	0.8708	L	0.44542	1.39	0.09310	N	0.999995	D	0.76494	0.999	P	0.57152	0.814	D	0.88535	0.3105	10	0.22706	T	0.39	-1.7339	10.5674	0.45181	0.0:0.0:0.8067:0.1933	.	65	P14784	IL2RB_HUMAN	L	65	ENSP00000216223:P65L;ENSP00000403731:P65L;ENSP00000402685:P65L;ENSP00000401020:P65L	ENSP00000216223:P65L	P	-	2	0	IL2RB	35869516	0.041000	0.20044	0.001000	0.08648	0.001000	0.01503	2.882000	0.48546	1.072000	0.40860	0.561000	0.74099	CCG		0.537	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			A	37539570	G	A	37539570	3	1	139	1	0	0	0	0	1	0	0	0	7689	1116	39	1	1493	1	IL2RB	22	37539570	Missense_Mutation	SNP	G	TCGA-B0-4811-01A-01D-1501-10		37539570	13764996	114	8323											
EP300	2033	broad.mit.edu;ucsc.edu	37	22	41573737	41573737	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr22:41573737T>C	ENST00000263253.7	+	31	7241	c.6022T>C	c.(6022-6024)Tct>Cct	p.S2008P	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2008	Interaction with HTLV-1 Tax.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.S2008P(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCAACTACAGTCTGGGATGCC	0.592			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	1	Substitution - Missense(1)	kidney(1)											65	61	62					22																	41573737		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6022T>C	22.37:g.41573737T>C	ENSP00000263253:p.Ser2008Pro		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	T	1.633	-0.518398	0.04171	.	.	ENSG00000100393	ENST00000263253	D	0.83163	-1.69	5.2	-3.82	0.04281	Nuclear receptor coactivator, CREB-bp-like, interlocking (1);	0.484331	0.17151	N	0.185051	T	0.42268	0.1195	N	0.00621	-1.32	0.30207	N	0.798058	B	0.02656	0.0	B	0.01281	0.0	T	0.55016	-0.8206	10	0.05620	T	0.96	-0.0098	4.2909	0.10878	0.1432:0.5276:0.1451:0.1841	.	2008	Q09472	EP300_HUMAN	P	2008	ENSP00000263253:S2008P	ENSP00000263253:S2008P	S	+	1	0	EP300	39903683	0.787000	0.28750	0.272000	0.24630	0.773000	0.43773	0.304000	0.19228	-0.294000	0.08973	0.459000	0.35465	TCT		0.592	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		C	41573737	T	C	41573737	3	2	139	1	0	0	0	0	1	0	0	0	5150	1667	58	3	6144	3	EP300	22	41573737	Missense_Mutation	SNP	T	TCGA-B0-4811-01A-01D-1501-10	4034167	41573737	9730829	115	8324											
DCAF8L2	347442	broad.mit.edu	37	X	27765420	27765421	+	In_Frame_Ins	INS	-	-	ATACAA			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chrX:27765420_27765421insATACAA	ENST00000451261.2	+	5	807_808	c.408_409insATACAA	c.(409-411)gag>ATACAAgag	p.136_137insIQ		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	136	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaggaggaggaggaggagga	0.589																																																0																																										SO:0001652	inframe_insertion	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		Exception_encountered	X.37:g.27765420_27765421insATACAA	ENSP00000462745:p.Glu136_Glu137insIleGln		B2RXH9|J3KT06	In_Frame_Ins	INS	ENST00000451261.2	37	CCDS59162.1																																																																																				0.589	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		ATACAA	27765421	-	ATACAA	27765420	7	5	139	1	0	1	1	0	0	0	0	0	4280	991	35	0	410	0	DCAF8L2	23	27765420	In_Frame_Ins	INS	-	TCGA-B0-4811-01A-01D-1501-10		27765420	127505140	116	8325											
COL4A6	1288	broad.mit.edu	37	X	107400258	107400258	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chrX:107400258C>T	ENST00000372216.4	-	45	5148	c.5048G>A	c.(5047-5049)cGc>cAc	p.R1683H	COL4A6_ENST00000545689.1_Missense_Mutation_p.R1658H|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1625H|COL4A6_ENST00000334504.7_Missense_Mutation_p.R1682H|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1683H|COL4A6_ENST00000418180.1_Missense_Mutation_p.R217H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1683	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.R1682H(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CACCTGGCAGCGACTGACTCG	0.572									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Substitution - Missense(1)	kidney(1)											72	71	71					X																	107400258		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.5048G>A	X.37:g.107400258C>T	ENSP00000361290:p.Arg1683His		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328483	0.60743	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	4.99	4.99	0.66335	C-type lectin fold (1);	0.000000	0.39834	N	0.001258	D	0.99096	0.9689	H	0.97707	4.06	0.51482	D	0.999925	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;1.0;0.993;0.996;0.986	D	0.99194	1.0871	10	0.87932	D	0	.	18.0603	0.89374	0.0:1.0:0.0:0.0	.	1658;217;1625;1683;1682	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	H	217;1683;1682;1683;1670;1658;1625	ENSP00000406002:R217H;ENSP00000361290:R1683H;ENSP00000334733:R1682H;ENSP00000378340:R1683H;ENSP00000443707:R1658H;ENSP00000445236:R1625H	ENSP00000334733:R1682H	R	-	2	0	COL4A6	107286914	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.961000	0.63681	2.396000	0.81511	0.513000	0.50165	CGC		0.572	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			T	107400258	C	T	107400258	3	4	139	1	0	0	0	0	1	0	0	0	3697	768	27	1	31	1	COL4A6	23	107400258	Missense_Mutation	SNP	C	TCGA-B0-4811-01A-01D-1501-10	79634838	107400258	47870302	117	8326											
FCRL5	83416	hgsc.bcm.edu;ucsc.edu	37	1	157490914	157490914	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr1:157490914G>A	ENST00000361835.3	-	11	2565	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V	FCRL5_ENST00000356953.4_Missense_Mutation_p.A803V|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	803	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.A803E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTTTAAGGACGCTCCTCCAGA	0.557																																																1	Substitution - Missense(1)	lung(1)											78	84	82					1																	157490914		2203	4300	6503	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2408C>T	1.37:g.157490914G>A	ENSP00000354691:p.Ala803Val		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	9.537	1.112376	0.20795	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.03745	3.82;3.82	5.34	-0.217	0.13149	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	89.059200	0.00531	U	0.000200	T	0.01320	0.0043	L	0.35542	1.07	0.36542	D	0.871369	B;P	0.50156	0.303;0.932	B;B	0.39027	0.007;0.288	T	0.50972	-0.8764	10	0.37606	T	0.19	.	7.8573	0.29489	0.5523:0.0:0.4477:0.0	.	803;803	A6NJE8;Q96RD9	.;FCRL5_HUMAN	V	803	ENSP00000354691:A803V;ENSP00000349434:A803V	ENSP00000349434:A803V	A	-	2	0	FCRL5	155757538	0.000000	0.05858	0.009000	0.14445	0.240000	0.25518	-0.419000	0.07071	-0.178000	0.10672	0.650000	0.86243	GCG		0.557	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		A	157490914	G	A	157490914	3	1	140	1	0	0	0	0	1	0	0	0	5800	1087	38	1	553	1	FCRL5	1	157490914	Missense_Mutation	SNP	G	TCGA-B0-4813-01A-01D-1361-10		157490914	91759707	1	8327											
TRMT61B	55006	hgsc.bcm.edu	37	2	29093128	29093128	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:29093128A>G	ENST00000306108.5	-	1	39	c.16T>C	c.(16-18)Tgc>Cgc	p.C6R		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	6					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GGACCGCGGCACCATGCCATT	0.647																																																0													22	27	26					2																	29093128		2194	4283	6477	SO:0001583	missense	55006			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.16T>C	2.37:g.29093128A>G	ENSP00000302801:p.Cys6Arg		Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	A	0.855	-0.737232	0.03111	.	.	ENSG00000171103	ENST00000306108	T	0.40225	1.04	4.65	-5.65	0.02459	.	1.004860	0.08015	N	0.991044	T	0.12050	0.0293	N	0.02916	-0.46	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29912	-0.9996	10	0.05620	T	0.96	.	4.3031	0.10933	0.3227:0.0:0.1972:0.48	.	6;6	F8WDR2;Q9BVS5	.;TR61B_HUMAN	R	6	ENSP00000302801:C6R	ENSP00000302801:C6R	C	-	1	0	TRMT61B	28946632	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.146000	0.03191	-0.869000	0.04052	-1.670000	0.00746	TGC		0.647	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		G	29093128	A	G	29093128	3	3	140	1	0	0	0	0	1	0	0	0	16575	159	6	3	1445	3	TRMT61B	2	29093128	Missense_Mutation	SNP	A	TCGA-B0-4813-01A-01D-1361-10		29093128	214106245	2	8328											
REL	5966	hgsc.bcm.edu	37	2	61147174	61147174	+	Splice_Site	SNP	A	A	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:61147174A>C	ENST00000295025.8	+	8	1173		c.e8-1		REL_ENST00000394479.3_Splice_Site	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CTTTCTAATCAGATACTTACG	0.303			A		Hodgkin Lymphoma																																		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													65	68	67					2																	61147174		2203	4299	6502	SO:0001630	splice_region_variant	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.854-1A>C	2.37:g.61147174A>C			Q17RU2|Q2PNZ7|Q6LDY0	Splice_Site	SNP	ENST00000295025.8	37	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547408	0.65311	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3303	0.60483	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	REL	61000678	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.212000	0.65225	2.226000	0.72624	0.482000	0.46254	.		0.303	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908	Intron	C	61147174	A	C	61147174	5	2	140	1	0	0	0	0	0	0	1	0	13221	202	7	5	882	5	REL	2	61147174	Splice_Site	SNP	A	TCGA-B0-4813-01A-01D-1361-10	32054046	61147174	182052199	3	8329											
FABP1	2168	hgsc.bcm.edu	37	2	88427489	88427489	+	Silent	SNP	T	T	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:88427489T>C	ENST00000295834.3	-	1	146	c.48A>G	c.(46-48)gaA>gaG	p.E16E	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000393750.3_Silent_p.E16E	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	16					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TCATGAAGGCTTCAAAGTTTT	0.537																																																0													194	167	176					2																	88427489		2203	4300	6503	SO:0001819	synonymous_variant	2168			M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"Fatty acid binding protein family"	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.48A>G	2.37:g.88427489T>C				Silent	SNP	ENST00000295834.3	37	CCDS2001.1																																																																																				0.537	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		C	88427489	T	C	88427489	2	2	140	1	0	0	0	0	0	0	0	1	5357	1606	56	3		3	FABP1	2	88427489	Silent	SNP	T	TCGA-B0-4813-01A-01D-1361-10	27280315	88427489	154771884	4	8330											
CHST10	9486	hgsc.bcm.edu;ucsc.edu	37	2	101009958	101009958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:101009958C>A	ENST00000264249.3	-	7	1205	c.820G>T	c.(820-822)Gag>Tag	p.E274*	CHST10_ENST00000542617.1_Nonsense_Mutation_p.E322*|CHST10_ENST00000409701.1_Nonsense_Mutation_p.E274*	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	274					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TACATTATCTCACAGGGAGCA	0.537																																																0													226	189	202					2																	101009958		2203	4300	6503	SO:0001587	stop_gained	9486			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.820G>T	2.37:g.101009958C>A	ENSP00000264249:p.Glu274*		Q53T18	Nonsense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	38	6.981780	0.97979	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	.	.	.	5.91	5.91	0.95273	.	0.087797	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-41.1322	20.2963	0.98556	0.0:1.0:0.0:0.0	.	.	.	.	X	274;322;274	.	ENSP00000264249:E274X	E	-	1	0	CHST10	100376390	1.000000	0.71417	0.997000	0.53966	0.790000	0.44656	2.553000	0.45837	2.813000	0.96785	0.655000	0.94253	GAG		0.537	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		A	101009958	C	A	101009958	4	1	140	1	0	0	0	0	0	1	0	0	3400	835	29	4	254	4	CHST10	2	101009958	Nonsense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10	12582469	101009958	142189415	5	8331											
PSD4	23550	hgsc.bcm.edu	37	2	113940963	113940963	+	Silent	SNP	T	T	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:113940963T>G	ENST00000245796.6	+	2	1125	c.930T>G	c.(928-930)gcT>gcG	p.A310A	PSD4_ENST00000441564.3_Silent_p.A310A	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	310					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGACGGCGCTGCTATCAGTG	0.612																																																0													61	51	54					2																	113940963		2203	4299	6502	SO:0001819	synonymous_variant	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.930T>G	2.37:g.113940963T>G			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	CCDS33276.1																																																																																				0.612	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		G	113940963	T	G	113940963	2	3	140	1	0	0	0	0	0	0	0	1	12654	1567	55	5		5	PSD4	2	113940963	Silent	SNP	T	TCGA-B0-4813-01A-01D-1361-10	12931005	113940963	129258410	6	8332											
PROC	5624	hgsc.bcm.edu;ucsc.edu	37	2	128178989	128178989	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:128178989G>C	ENST00000234071.3	+	3	288	c.201G>C	c.(199-201)gaG>gaC	p.E67D	PROC_ENST00000453608.2_Missense_Mutation_p.E88D|MIR4783_ENST00000580343.1_RNA|PROC_ENST00000422777.3_Missense_Mutation_p.E67D|PROC_ENST00000409048.1_Missense_Mutation_p.E67D	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	67	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GTGACTTCGAGGAGGCCAAGG	0.587																																																0													81	68	72					2																	128178989		2203	4300	6503	SO:0001583	missense	5624			X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.201G>C	2.37:g.128178989G>C	ENSP00000234071:p.Glu67Asp		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	CCDS2145.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915982	0.73098	.	.	ENSG00000115718	ENST00000234071;ENST00000429925;ENST00000442644;ENST00000453608;ENST00000427769;ENST00000409048;ENST00000422777	D;D;D;D;D;D;D	0.99905	-7.72;-7.72;-7.72;-7.72;-7.72;-7.72;-7.72	5.2	1.94	0.25998	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.171412	0.28262	N	0.015983	D	0.99891	0.9948	M	0.89163	3.01	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.973;1.0;1.0	D	0.96886	0.9649	10	0.87932	D	0	.	11.3533	0.49600	0.2343:0.0:0.7657:0.0	.	88;88;67;67	B4DPQ7;B4DPQ3;E7END6;P04070	.;.;.;PROC_HUMAN	D	67;67;67;88;67;67;67	ENSP00000234071:E67D;ENSP00000412697:E67D;ENSP00000411241:E67D;ENSP00000404030:E88D;ENSP00000406295:E67D;ENSP00000386679:E67D;ENSP00000409543:E67D	ENSP00000234071:E67D	E	+	3	2	PROC	127895459	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	1.594000	0.36697	0.583000	0.29574	0.561000	0.74099	GAG		0.587	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		C	128178989	G	C	128178989	3	2	140	1	0	0	0	0	1	0	0	0	12550	991	35	4	207	4	PROC	2	128178989	Missense_Mutation	SNP	G	TCGA-B0-4813-01A-01D-1361-10	14238026	128178989	115020384	7	8333											
CCDC150	284992	hgsc.bcm.edu;ucsc.edu	37	2	197530388	197530388	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:197530388T>C	ENST00000389175.4	+	6	878	c.743T>C	c.(742-744)gTg>gCg	p.V248A	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	248										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGATCAACAGTGGAGGTAGAA	0.368																																																0													64	61	62					2																	197530388		1880	4112	5992	SO:0001583	missense	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.743T>C	2.37:g.197530388T>C	ENSP00000373827:p.Val248Ala		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015543	0.54468	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.28666	1.6	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000006	T	0.39809	0.1092	M	0.64997	1.995	0.80722	D	1	P;P	0.48162	0.61;0.906	B;P	0.49085	0.3;0.6	T	0.28964	-1.0027	10	0.52906	T	0.07	.	12.1261	0.53917	0.0:0.0:0.0:1.0	.	248;248	Q8NCX0;F5H6M2	CC150_HUMAN;.	A	248	ENSP00000373827:V248A	ENSP00000373827:V248A	V	+	2	0	CCDC150	197238633	1.000000	0.71417	0.992000	0.48379	0.885000	0.51271	4.607000	0.61133	2.053000	0.61076	0.402000	0.26972	GTG		0.368	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		C	197530388	T	C	197530388	3	2	140	1	0	0	0	0	1	0	0	0	2787	1696	59	3	765	3	CCDC150	2	197530388	Missense_Mutation	SNP	T	TCGA-B0-4813-01A-01D-1361-10	69351399	197530388	45668985	8	8334											
AOX1	316	hgsc.bcm.edu	37	2	201474083	201474083	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:201474083G>A	ENST00000374700.2	+	12	1340	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	367	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCCAGATTCAGATCTGAATCC	0.373																																																0													92	87	89					2																	201474083		2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1099G>A	2.37:g.201474083G>A	ENSP00000363832:p.Asp367Asn		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873904	0.72180	.	.	ENSG00000138356	ENST00000374700	T	0.44881	0.91	5.48	5.48	0.80851	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	H	0.98238	4.18	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.87163	0.2216	10	0.87932	D	0	-41.4331	19.363	0.94448	0.0:0.0:1.0:0.0	.	367	Q06278	ADO_HUMAN	N	367	ENSP00000363832:D367N	ENSP00000363832:D367N	D	+	1	0	AOX1	201182328	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	9.085000	0.94083	2.584000	0.87258	0.563000	0.77884	GAT		0.373	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		A	201474083	G	A	201474083	3	1	140	1	0	0	0	0	1	0	0	0	729	942	33	2	1145	2	AOX1	2	201474083	Missense_Mutation	SNP	G	TCGA-B0-4813-01A-01D-1361-10	3943695	201474083	41725290	9	8335											
PIKFYVE	200576	hgsc.bcm.edu	37	2	209190805	209190805	+	Silent	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:209190805C>A	ENST00000264380.4	+	20	3428	c.3270C>A	c.(3268-3270)ctC>ctA	p.L1090L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1090					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGTCTCCTCTCCTCAATAAAG	0.448																																																0													60	66	64					2																	209190805		2203	4300	6503	SO:0001819	synonymous_variant	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3270C>A	2.37:g.209190805C>A			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	CCDS2382.1																																																																																				0.448	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		A	209190805	C	A	209190805	2	1	140	1	0	0	0	0	0	0	0	1	11926	842	30	4		4	PIKFYVE	2	209190805	Silent	SNP	C	TCGA-B0-4813-01A-01D-1361-10	7716722	209190805	34008568	10	8336											
IQCB1	9657	hgsc.bcm.edu	37	3	121544945	121544945	+	Silent	SNP	G	G	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr3:121544945G>A	ENST00000310864.6	-	5	560	c.346C>T	c.(346-348)Cta>Tta	p.L116L	IQCB1_ENST00000349820.6_Silent_p.L116L	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	116					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CCCAAAACTAGAAAATTTTCT	0.363																																																0													67	65	66					3																	121544945		2203	4300	6503	SO:0001819	synonymous_variant	9657			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.346C>T	3.37:g.121544945G>A			Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Silent	SNP	ENST00000310864.6	37	CCDS33837.1																																																																																				0.363	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		A	121544945	G	A	121544945	2	1	140	1	0	0	0	0	0	0	0	1	7805	933	33	2		2	IQCB1	3	121544945	Silent	SNP	G	TCGA-B0-4813-01A-01D-1361-10		121544945	76477485	11	8337											
COL6A5	256076	hgsc.bcm.edu	37	3	130095639	130095639	+	Silent	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr3:130095639A>G	ENST00000432398.2	+	3	1121	c.627A>G	c.(625-627)gtA>gtG	p.V209V	COL6A5_ENST00000265379.6_Silent_p.V209V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	209	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCAAGGATGTAACCAAGTATA	0.483																																																0													91	75	80					3																	130095639		692	1591	2283	SO:0001819	synonymous_variant	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.627A>G	3.37:g.130095639A>G			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37																																																																																					0.483	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		G	130095639	A	G	130095639	2	3	140	1	0	0	0	0	0	0	0	1	3704	349	13	3		3	COL6A5	3	130095639	Silent	SNP	A	TCGA-B0-4813-01A-01D-1361-10	8550694	130095639	67926791	12	8338											
GAK	2580	hgsc.bcm.edu	37	4	860311	860311	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr4:860311C>G	ENST00000314167.4	-	22	2994	c.2884G>C	c.(2884-2886)Ggc>Cgc	p.G962R	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.G883R	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	962			G -> D (in a lung neuroendocrine carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGAAGCGGGCCAAAGGGGTCA	0.617																																																0													70	71	71					4																	860311		2203	4300	6503	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2884G>C	4.37:g.860311C>G	ENSP00000314499:p.Gly962Arg		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.047176|3.047176	0.55110|0.55110	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	T;T|.	0.78924|.	-0.8;-1.22|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.161388|.	0.53938|.	D|.	0.000054|.	T|T	0.55657|0.55657	0.1934|0.1934	L|L	0.29908|0.29908	0.895|0.895	0.35685|0.35685	D|D	0.814364|0.814364	D;D;P|.	0.56035|.	0.974;0.974;0.918|.	B;P;B|.	0.48425|.	0.372;0.577;0.372|.	T|T	0.61352|0.61352	-0.7080|-0.7080	10|5	0.72032|.	D|.	0.01|.	-25.1032|-25.1032	16.0863|16.0863	0.81056|0.81056	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	864;883;962|.	B4DS37;E9PGR2;O14976|.	.;.;GAK_HUMAN|.	R|F	238;962;883|73	ENSP00000314499:G962R;ENSP00000421361:G883R|.	ENSP00000314499:G962R|.	G|L	-|-	1|3	0|2	GAK|GAK	850311|850311	1.000000|1.000000	0.71417|0.71417	0.541000|0.541000	0.28102|0.28102	0.032000|0.032000	0.12392|0.12392	5.747000|5.747000	0.68689|0.68689	2.388000|2.388000	0.81334|0.81334	0.561000|0.561000	0.74099|0.74099	GGC|TTG		0.617	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		G	860311	C	G	860311	3	3	140	1	0	0	0	0	1	0	0	0	6197	594	21	4	1079	4	GAK	4	860311	Missense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10		860311	190293965	13	8339											
LIAS	11019	hgsc.bcm.edu;ucsc.edu	37	4	39469138	39469138	+	Splice_Site	SNP	G	G	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr4:39469138G>T	ENST00000513731.1	+	3	271	c.219G>T	c.(217-219)agG>agT	p.R73S	LIAS_ENST00000261434.3_Splice_Site_p.R203S|LIAS_ENST00000381846.1_Intron|LIAS_ENST00000340169.2_Splice_Site_p.R203S					lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						TTCCCCTTAGGAATCCAAAAA	0.368																																																0													107	107	107					4																	39469138		2203	4300	6503	SO:0001630	splice_region_variant	11019			AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000513731.1:c.219-1G>T	4.37:g.39469138G>T				Missense_Mutation	SNP	ENST00000513731.1	37		.	.	.	.	.	.	.	.	.	.	G	17.49	3.402172	0.62288	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731	T;T;T	0.80304	-1.08;-1.08;-1.36	5.89	3.23	0.37069	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.039466	0.85682	D	0.000000	T	0.82051	0.4953	M	0.75884	2.315	0.80722	D	1	P;B	0.51147	0.942;0.292	P;B	0.49887	0.625;0.41	T	0.80605	-0.1308	9	.	.	.	.	8.9783	0.35950	0.2833:0.0:0.7167:0.0	.	73;203	D6RCP8;O43766	.;LIAS_HUMAN	S	203;203;73	ENSP00000340676:R203S;ENSP00000261434:R203S;ENSP00000425580:R73S	.	R	+	3	2	LIAS	39145533	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	1.944000	0.40263	0.837000	0.34925	0.557000	0.71058	AGG		0.368	LIAS-006	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000361037.1	NM_194451	Missense_Mutation	T	39469138	G	T	39469138	5	4	140	1	0	0	0	0	0	0	1	0	8780	1188	41	4	635	4	LIAS	4	39469138	Splice_Site	SNP	G	TCGA-B0-4813-01A-01D-1361-10	38608827	39469138	151685138	14	8340											
LPHN3	23284	hgsc.bcm.edu;ucsc.edu	37	4	62801740	62801740	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr4:62801740C>A	ENST00000514591.1	+	14	2521	c.2192C>A	c.(2191-2193)aCc>aAc	p.T731N	LPHN3_ENST00000514996.1_Missense_Mutation_p.T731N|LPHN3_ENST00000514157.1_Missense_Mutation_p.T731N|LPHN3_ENST00000506720.1_Missense_Mutation_p.T799N|LPHN3_ENST00000506746.1_Missense_Mutation_p.T799N|LPHN3_ENST00000545650.1_Missense_Mutation_p.T731N|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000507164.1_Missense_Mutation_p.T799N|LPHN3_ENST00000509896.1_Missense_Mutation_p.T799N|LPHN3_ENST00000508946.1_Missense_Mutation_p.T731N|LPHN3_ENST00000508693.1_Missense_Mutation_p.T799N|LPHN3_ENST00000507625.1_Missense_Mutation_p.T799N|LPHN3_ENST00000506700.1_Missense_Mutation_p.T731N|LPHN3_ENST00000504896.1_Missense_Mutation_p.T731N|LPHN3_ENST00000511324.1_Missense_Mutation_p.T799N|LPHN3_ENST00000512091.2_Missense_Mutation_p.T731N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	718					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCTGCAAATACCTTAAAGCAA	0.393																																																0													42	41	42					4																	62801740		1865	4096	5961	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2192C>A	4.37:g.62801740C>A	ENSP00000422533:p.Thr731Asn		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.474376|4.474376	0.84640|0.84640	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.11385|.	2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Domain of unknown function DUF3497 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73118|.	0.3546|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D|.	0.64830|.	0.994;0.994;0.988|.	D;D;P|.	0.66716|.	0.946;0.946;0.844|.	T|.	0.72200|.	-0.4362|.	10|.	0.87932|.	D|.	0|.	.|.	18.2931|18.2931	0.90137|0.90137	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	731;718;731|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	N|X	731;731;799;799;731;731;718;731;799;799;799;731;731;731;799;799;731|188	ENSP00000423388:T731N;ENSP00000422533:T731N;ENSP00000423787:T799N;ENSP00000425033:T799N;ENSP00000424120:T731N;ENSP00000439831:T731N;ENSP00000421476:T799N;ENSP00000424030:T799N;ENSP00000421372:T799N;ENSP00000425201:T731N;ENSP00000423434:T731N;ENSP00000421627:T731N;ENSP00000420931:T799N;ENSP00000425884:T799N;ENSP00000424258:T731N|.	ENSP00000280009:T731N|.	T|Y	+|+	2|3	0|2	LPHN3|LPHN3	62484335|62484335	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.971000|0.971000	0.66376|0.66376	7.263000|7.263000	0.78421|0.78421	2.326000|2.326000	0.78906|0.78906	0.585000|0.585000	0.79938|0.79938	ACC|TAC		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			A	62801740	C	A	62801740	3	1	140	1	0	0	0	0	1	0	0	0	8919	507	18	4	2238	4	LPHN3	4	62801740	Missense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10	23332602	62801740	128352536	15	8341											
MAP9	79884	hgsc.bcm.edu	37	4	156276291	156276291	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr4:156276291C>A	ENST00000311277.4	-	10	1575	c.1312G>T	c.(1312-1314)Gtg>Ttg	p.V438L	AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.V414L|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000596754.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	438					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGTAAATACACATTTTTCTTT	0.244																																																0													55	59	58					4																	156276291		2184	4261	6445	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1312G>T	4.37:g.156276291C>A	ENSP00000310593:p.Val438Leu		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	9.288	1.049849	0.19827	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024	T;T;T	0.30448	2.25;3.13;1.53	4.98	0.00389	0.14056	.	1.035180	0.07672	N	0.935637	T	0.16981	0.0408	N	0.22421	0.69	0.24573	N	0.993917	B;P;P	0.40909	0.004;0.732;0.732	B;B;B	0.37888	0.01;0.26;0.26	T	0.17531	-1.0366	10	0.29301	T	0.29	-3.2388	3.393	0.07295	0.1776:0.4275:0.0:0.3949	.	413;438;438	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	L	438;414;437	ENSP00000310593:V438L;ENSP00000427402:V414L;ENSP00000394048:V437L	ENSP00000310593:V438L	V	-	1	0	MAP9	156495741	0.000000	0.05858	0.621000	0.29145	0.648000	0.38561	-0.739000	0.04866	0.238000	0.21222	-0.225000	0.12378	GTG		0.244	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		A	156276291	C	A	156276291	3	1	140	1	0	0	0	0	1	0	0	0	9272	478	17	4	651	4	MAP9	4	156276291	Missense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10	93474551	156276291	34877985	16	8342											
HAPLN1	1404	hgsc.bcm.edu	37	5	82937598	82937598	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr5:82937598A>T	ENST00000274341.4	-	5	1632	c.782T>A	c.(781-783)tTt>tAt	p.F261Y		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	261	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CAGATAGTAAAAACGGCCTGT	0.453																																																0													111	113	112					5																	82937598		2203	4300	6503	SO:0001583	missense	1404				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.782T>A	5.37:g.82937598A>T	ENSP00000274341:p.Phe261Tyr		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702057	0.48307	.	.	ENSG00000145681	ENST00000274341	T	0.08282	3.11	5.1	5.1	0.69264	Link (3);	0.094270	0.85682	D	0.000000	T	0.10594	0.0259	L	0.44542	1.39	0.80722	D	1	B	0.13594	0.008	B	0.19666	0.026	T	0.04467	-1.0949	10	0.72032	D	0.01	.	15.2043	0.73165	1.0:0.0:0.0:0.0	.	261	P10915	HPLN1_HUMAN	Y	261	ENSP00000274341:F261Y	ENSP00000274341:F261Y	F	-	2	0	HAPLN1	82973354	1.000000	0.71417	0.560000	0.28344	0.896000	0.52359	9.283000	0.95860	2.041000	0.60428	0.533000	0.62120	TTT		0.453	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		T	82937598	A	T	82937598	3	4	140	1	0	0	0	0	1	0	0	0	6956	14	1	5	286	5	HAPLN1	5	82937598	Missense_Mutation	SNP	A	TCGA-B0-4813-01A-01D-1361-10		82937598	97977662	17	8343											
PDSS2	57107	hgsc.bcm.edu	37	6	107655456	107655456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr6:107655456delC	ENST00000369037.4	-	2	654	c.377delG	c.(376-378)agcfs	p.S127fs	PDSS2_ENST00000369031.4_Frame_Shift_Del_p.S127fs|PDSS2_ENST00000453874.2_Frame_Shift_Del_p.S127fs	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	127					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GTTCACGCTGCTGGGCCCAGC	0.478																																																0													99	89	92					6																	107655456		2203	4300	6503	SO:0001589	frameshift_variant	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"chromosome 6 open reading frame 210"	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.377delG	6.37:g.107655456delC	ENSP00000358033:p.Ser127fs		Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Frame_Shift_Del	DEL	ENST00000369037.4	37	CCDS5059.1																																																																																				0.478	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		-	107655456	C	-	107655456	7	5	140	1	0	1	0	1	0	0	0	0	11696	797	28	0	850	0	PDSS2	6	107655456	Frame_Shift_Del	DEL	C	TCGA-B0-4813-01A-01D-1361-10		107655456	63459611	18	8344											
MTHFD1L	25902	hgsc.bcm.edu;ucsc.edu	37	6	151358209	151358209	+	Missense_Mutation	SNP	C	C	T	rs552580428		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr6:151358209C>T	ENST00000367321.3	+	26	3077	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	935	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CAGTGACGTCCGGGCCAGCAT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18701	0.0		0.001	False		,,,				2504	0.0															0													87	83	84					6																	151358209		2203	4300	6503	SO:0001583	missense	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2803C>T	6.37:g.151358209C>T	ENSP00000356290:p.Arg935Trp		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228637	0.39399	.	.	ENSG00000120254	ENST00000367321;ENST00000453602;ENST00000450635	T;T;T	0.25579	1.79;1.79;1.79	5.27	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.981;0.996	T	0.68599	-0.5366	10	0.87932	D	0	.	9.6599	0.39950	0.2024:0.7259:0.0:0.0717	.	936;690;935	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	W	935;60;34	ENSP00000356290:R935W;ENSP00000391022:R60W;ENSP00000399804:R34W	ENSP00000356290:R935W	R	+	1	2	MTHFD1L	151399902	1.000000	0.71417	0.990000	0.47175	0.309000	0.27889	2.002000	0.40835	1.217000	0.43442	-0.119000	0.15052	CGG		0.502	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		T	151358209	C	T	151358209	3	4	140	1	0	0	0	0	1	0	0	0	9930	643	23	1	2905	1	MTHFD1L	6	151358209	Missense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10	43702753	151358209	19756858	19	8345											
LPA	4018	hgsc.bcm.edu	37	6	161027525	161027525	+	Silent	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr6:161027525C>T	ENST00000316300.5	-	17	2813	c.2769G>A	c.(2767-2769)gaG>gaA	p.E923E	LPA_ENST00000447678.1_Silent_p.E923E			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3431	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAGAAGGAGCCTCTAGGCTTG	0.542																																																0													85	87	86					6																	161027525		1948	4193	6141	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2769G>A	6.37:g.161027525C>T			Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.542	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		T	161027525	C	T	161027525	2	4	140	1	0	0	0	0	0	0	0	1	8905	680	24	2		2	LPA	6	161027525	Silent	SNP	C	TCGA-B0-4813-01A-01D-1361-10	9669316	161027525	10087542	20	8346											
THBS2	7058	hgsc.bcm.edu;ucsc.edu	37	6	169649025	169649025	+	Silent	SNP	G	G	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr6:169649025G>T	ENST00000366787.3	-	4	345	c.96C>A	c.(94-96)atC>atA	p.I32I		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	32	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGATGTTGCTGATACTGAAAA	0.612																																					Esophageal Squamous(91;219 1934 18562 44706)											0													99	70	80					6																	169649025		2203	4300	6503	SO:0001819	synonymous_variant	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.96C>A	6.37:g.169649025G>T			A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.612	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		T	169649025	G	T	169649025	2	4	140	1	0	0	0	0	0	0	0	1	15859	1280	45	4		4	THBS2	6	169649025	Silent	SNP	G	TCGA-B0-4813-01A-01D-1361-10	8621500	169649025	1466042	21	8347											
RADIL	55698	hgsc.bcm.edu;ucsc.edu	37	7	4839090	4839090	+	Silent	SNP	G	G	A	rs376538057		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr7:4839090G>A	ENST00000399583.3	-	15	3334	c.3147C>T	c.(3145-3147)ggC>ggT	p.G1049G	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Silent_p.G809G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1049	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCTTCTTCCCGCCATGACGGA	0.642																																																0								G		1,3995		0,1,1997	61	69	67		3147	-7	0.1	7		67	2,8328		0,2,4163	no	coding-synonymous	RADIL	NM_018059.4		0,3,6160	AA,AG,GG		0.024,0.025,0.0243		1049/1076	4839090	3,12323	1998	4165	6163	SO:0001819	synonymous_variant	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.3147C>T	7.37:g.4839090G>A			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	CCDS43544.1																																																																																				0.642	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		A	4839090	G	A	4839090	2	1	140	1	0	0	0	0	0	0	0	1	13003	1074	38	1		1	RADIL	7	4839090	Silent	SNP	G	TCGA-B0-4813-01A-01D-1361-10		4839090	154299573	22	8348											
MYO1G	64005	hgsc.bcm.edu	37	7	45009718	45009718	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr7:45009718T>A	ENST00000258787.7	-	10	1389	c.1253A>T	c.(1252-1254)aAg>aTg	p.K418M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	418	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGCTGCAGCTTCTCGTTGCA	0.587																																																0													76	69	72					7																	45009718		2203	4300	6503	SO:0001583	missense	64005			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1253A>T	7.37:g.45009718T>A	ENSP00000258787:p.Lys418Met		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309039	0.81247	.	.	ENSG00000136286	ENST00000258787	D	0.90004	-2.6	4.25	4.25	0.50352	Myosin head, motor domain (3);	0.000000	0.42548	D	0.000687	D	0.94152	0.8124	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.999;0.973	D;P	0.72625	0.978;0.895	D	0.94616	0.7809	10	0.62326	D	0.03	.	12.6185	0.56590	0.0:0.0:0.0:1.0	.	418;418	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	M	418	ENSP00000258787:K418M	ENSP00000258787:K418M	K	-	2	0	MYO1G	44976243	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.657000	0.83745	1.912000	0.55364	0.454000	0.30748	AAG		0.587	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			A	45009718	T	A	45009718	3	1	140	1	0	0	0	0	1	0	0	0	10076	1609	56	5	1855	5	MYO1G	7	45009718	Missense_Mutation	SNP	T	TCGA-B0-4813-01A-01D-1361-10	40170628	45009718	114128945	23	8349											
SLC25A13	10165	hgsc.bcm.edu	37	7	95799395	95799395	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr7:95799395A>G	ENST00000265631.5	-	13	1409	c.1273T>C	c.(1273-1275)Tcg>Ccg	p.S425P	SLC25A13_ENST00000542654.1_Missense_Mutation_p.S317P|SLC25A13_ENST00000416240.2_Missense_Mutation_p.S426P			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	425					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AGTGGGACCGAACCATCTTTG	0.348																																																0													115	118	117					7																	95799395		2203	4300	6503	SO:0001583	missense	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1273T>C	7.37:g.95799395A>G	ENSP00000265631:p.Ser425Pro		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210411	0.58343	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.78126	-1.15;-1.15;-1.15	4.92	4.92	0.64577	Mitochondrial carrier domain (2);	0.967373	0.08499	N	0.936803	T	0.71871	0.3391	N	0.17800	0.525	0.47737	D	0.999507	P;P;P	0.42203	0.594;0.773;0.773	B;B;B	0.43838	0.306;0.433;0.433	T	0.65676	-0.6110	10	0.40728	T	0.16	-10.7135	15.0347	0.71734	1.0:0.0:0.0:0.0	.	317;426;425	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	P	425;426;317	ENSP00000265631:S425P;ENSP00000400101:S426P;ENSP00000440484:S317P	ENSP00000265631:S425P	S	-	1	0	SLC25A13	95637331	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	5.606000	0.67641	2.204000	0.70986	0.383000	0.25322	TCG		0.348	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		G	95799395	A	G	95799395	3	3	140	1	0	0	0	0	1	0	0	0	14481	246	9	3	778	3	SLC25A13	7	95799395	Missense_Mutation	SNP	A	TCGA-B0-4813-01A-01D-1361-10	50789677	95799395	63339268	24	8350											
SPAM1	6677	hgsc.bcm.edu	37	7	123594531	123594531	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr7:123594531T>A	ENST00000439500.1	+	4	1520	c.907T>A	c.(907-909)Tat>Aat	p.Y303N	SPAM1_ENST00000223028.7_Missense_Mutation_p.Y303N|SPAM1_ENST00000340011.5_Missense_Mutation_p.Y303N|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y303N	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	303					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTTTTTGCATATACCCGCAT	0.403																																																0													41	40	40					7																	123594531		2202	4299	6501	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.907T>A	7.37:g.123594531T>A	ENSP00000402123:p.Tyr303Asn		Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607770	0.87258	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	H	0.96365	3.81	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82086	-0.0631	9	.	.	.	-61.0096	16.0034	0.80327	0.0:0.0:0.0:1.0	.	303;303	Q8TC30;P38567	.;HYALP_HUMAN	N	303	ENSP00000386028:Y303N;ENSP00000417934:Y303N;ENSP00000345849:Y303N;ENSP00000402123:Y303N;ENSP00000223028:Y303N	.	Y	+	1	0	SPAM1	123381767	1.000000	0.71417	0.501000	0.27601	0.007000	0.05969	7.587000	0.82613	2.371000	0.80710	0.533000	0.62120	TAT		0.403	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123594531	T	A	123594531	3	1	140	1	0	0	0	0	1	0	0	0	14992	1406	49	5	909	5	SPAM1	7	123594531	Missense_Mutation	SNP	T	TCGA-B0-4813-01A-01D-1361-10	27795136	123594531	35544132	25	8351											
CHD7	55636	hgsc.bcm.edu	37	8	61763833	61763833	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr8:61763833T>C	ENST00000423902.2	+	28	6099	c.5620T>C	c.(5620-5622)Tct>Cct	p.S1874P	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1874					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATTTGCAAATTCTCCTTCAGA	0.383																																																0													59	56	57					8																	61763833		1901	4097	5998	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5620T>C	8.37:g.61763833T>C	ENSP00000392028:p.Ser1874Pro		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661308	0.67700	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.90004	-2.6	5.58	5.58	0.84498	.	0.139743	0.49916	D	0.000124	D	0.90590	0.7050	M	0.66939	2.045	0.80722	D	1	D	0.53312	0.959	P	0.49887	0.625	D	0.90415	0.4412	10	0.42905	T	0.14	-16.1324	16.0298	0.80570	0.0:0.0:0.0:1.0	.	1874	Q9P2D1	CHD7_HUMAN	P	1874	ENSP00000392028:S1874P	ENSP00000307304:S1874P	S	+	1	0	CHD7	61926387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.869000	0.75521	2.247000	0.74100	0.528000	0.53228	TCT		0.383	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		C	61763833	T	C	61763833	3	2	140	1	0	0	0	0	1	0	0	0	3332	1783	62	3	5726	3	CHD7	8	61763833	Missense_Mutation	SNP	T	TCGA-B0-4813-01A-01D-1361-10		61763833	84600189	26	8352											
FER1L6	654463	hgsc.bcm.edu;ucsc.edu	37	8	124987507	124987507	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr8:124987507C>A	ENST00000522917.1	+	8	850	c.644C>A	c.(643-645)aCc>aAc	p.T215N	FER1L6_ENST00000399018.1_Missense_Mutation_p.T215N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	215						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTCTTGAAGACCAGCCCTAAA	0.473																																																0													126	122	123					8																	124987507		1963	4149	6112	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.644C>A	8.37:g.124987507C>A	ENSP00000428280:p.Thr215Asn			Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	8.402	0.842191	0.16963	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.71341	-0.56;-0.56	5.46	3.62	0.41486	C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.562931	0.17258	U	0.180883	T	0.70307	0.3209	L	0.57536	1.79	0.09310	N	1	B	0.22851	0.076	B	0.30179	0.112	T	0.62955	-0.6744	10	0.51188	T	0.08	.	16.2053	0.82122	0.0:0.7486:0.2514:0.0	.	215	Q2WGJ9	FR1L6_HUMAN	N	215	ENSP00000428280:T215N;ENSP00000381982:T215N	ENSP00000381982:T215N	T	+	2	0	FER1L6	125056688	0.470000	0.25854	0.995000	0.50966	0.030000	0.12068	2.954000	0.49113	0.776000	0.33473	0.555000	0.69702	ACC		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		A	124987507	C	A	124987507	3	1	140	1	0	0	0	0	1	0	0	0	5817	507	18	4	670	4	FER1L6	8	124987507	Missense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10	63223674	124987507	21376515	27	8353											
PHF20L1	51105	hgsc.bcm.edu	37	8	133816091	133816091	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr8:133816091G>A	ENST00000395386.2	+	7	834	c.535G>A	c.(535-537)Gct>Act	p.A179T	PHF20L1_ENST00000395379.1_Missense_Mutation_p.A179T|PHF20L1_ENST00000395390.2_Missense_Mutation_p.A153T|PHF20L1_ENST00000337920.4_Missense_Mutation_p.A153T|PHF20L1_ENST00000395376.1_Missense_Mutation_p.A183T|PHF20L1_ENST00000220847.7_De_novo_Start_OutOfFrame	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	179							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAAAGCAGCTGCTGCAGCTGC	0.348																																																0													44	45	44					8																	133816091		2202	4298	6500	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.535G>A	8.37:g.133816091G>A	ENSP00000378784:p.Ala179Thr		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016770	0.93404	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.59502	0.26;0.62;0.76;1.21;0.5;0.8;0.38;1.41	5.89	5.89	0.94794	.	0.276668	0.41712	D	0.000831	T	0.68924	0.3054	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;0.999;1.0;0.998	D;D;D;D;D	0.91635	0.995;0.997;0.995;0.999;0.995	T	0.63910	-0.6530	10	0.33141	T	0.24	-5.0361	19.239	0.93875	0.0:0.0:1.0:0.0	.	153;18;179;179;153	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	T	183;179;153;179;179;153;183;49;153;18	ENSP00000378781:A183T;ENSP00000378777:A179T;ENSP00000355301:A153T;ENSP00000378784:A179T;ENSP00000324519:A179T;ENSP00000338269:A153T;ENSP00000378775:A183T;ENSP00000378788:A153T	ENSP00000324519:A179T	A	+	1	0	PHF20L1	133885273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.484000	0.60271	2.788000	0.95919	0.585000	0.79938	GCT		0.348	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		A	133816091	G	A	133816091	3	1	140	1	0	0	0	0	1	0	0	0	11834	1319	46	2	557	2	PHF20L1	8	133816091	Missense_Mutation	SNP	G	TCGA-B0-4813-01A-01D-1361-10	8828584	133816091	12547931	28	8354											
SVIL	6840	hgsc.bcm.edu	37	10	29840075	29840075	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr10:29840075A>G	ENST00000355867.4	-	6	1030	c.278T>C	c.(277-279)aTg>aCg	p.M93T	SVIL_ENST00000375400.3_Missense_Mutation_p.M93T|SVIL_ENST00000375398.2_Missense_Mutation_p.M93T	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	93	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTGGGTGTCCATGGTACCCGA	0.502																																																0													152	129	137					10																	29840075		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.278T>C	10.37:g.29840075A>G	ENSP00000348128:p.Met93Thr		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.514222	0.00975	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.39592	1.07;1.07;1.07	5.27	1.54	0.23209	.	0.502533	0.23674	N	0.045684	T	0.33933	0.0880	M	0.66939	2.045	0.80722	D	1	B;P	0.37914	0.002;0.611	B;B	0.33750	0.002;0.169	T	0.04811	-1.0925	9	.	.	.	-14.1323	6.4929	0.22125	0.7281:0.1317:0.1403:0.0	.	93;93	O95425-2;O95425	.;SVIL_HUMAN	T	93	ENSP00000364549:M93T;ENSP00000364547:M93T;ENSP00000348128:M93T	.	M	-	2	0	SVIL	29880081	1.000000	0.71417	0.637000	0.29366	0.296000	0.27459	3.850000	0.55918	0.009000	0.14813	0.482000	0.46254	ATG		0.502	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			G	29840075	A	G	29840075	3	3	140	1	0	0	0	0	1	0	0	0	15426	217	8	3	6498	3	SVIL	10	29840075	Missense_Mutation	SNP	A	TCGA-B0-4813-01A-01D-1361-10		29840075	105694672	29	8355											
KCNMA1	3778	hgsc.bcm.edu;ucsc.edu	37	10	78669819	78669819	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr10:78669819C>T	ENST00000286628.8	-	25	3051	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N	KCNMA1_ENST00000286627.5_Missense_Mutation_p.D960N|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D1021N|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D1022N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D1018N|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D987N|RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D960N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D1001N	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1018					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCATCATCATCGTCTTGGTCC	0.478																																																0													165	126	139					10																	78669819		2203	4300	6503	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3052G>A	10.37:g.78669819C>T	ENSP00000286628:p.Asp1018Asn		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.455310|5.455310	0.96223|0.96223	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	T;T;T;T;T;T;T;T;T|.	0.60672|.	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Potassium channel, calcium-activated, BK, alpha subunit (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77280|0.77280	0.4107|0.4107	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.999|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.998;0.936;0.981;1.0;0.981;0.914;0.971;0.957|.	T|T	0.74328|0.74328	-0.3701|-0.3701	10|5	0.72032|.	D|.	0.01|.	-14.3036|-14.3036	20.428|20.428	0.99075|0.99075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	989;990;1001;1018;960;771;1021;987|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	N|Q	960;897;953;992;955;987;960;992;1022;1021;1001;771|948;667	ENSP00000361517:D960N;ENSP00000361485:D897N;ENSP00000361514:D953N;ENSP00000396608:D992N;ENSP00000361520:D987N;ENSP00000286627:D960N;ENSP00000385552:D1022N;ENSP00000346321:D1021N;ENSP00000385806:D1001N|.	ENSP00000286627:D960N|.	D|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78339825|78339825	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.907000|0.907000	0.53573|0.53573	7.818000|7.818000	0.86416|0.86416	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.478	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		T	78669819	C	T	78669819	3	4	140	1	0	0	0	0	1	0	0	0	8075	884	31	1	703	1	KCNMA1	10	78669819	Missense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10	48829744	78669819	56864928	30	8356											
SYT12	91683	hgsc.bcm.edu;ucsc.edu	37	11	66811136	66811136	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr11:66811136T>G	ENST00000393946.2	+	8	1811	c.649T>G	c.(649-651)Ttt>Gtt	p.F217V	SYT12_ENST00000527043.1_Missense_Mutation_p.F217V|SYT12_ENST00000525457.1_Missense_Mutation_p.F217V			Q8IV01	SYT12_HUMAN	synaptotagmin XII	217	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTCCATCTTCTTTGATGAGAA	0.562																																					Ovarian(65;2862 3307)											0													92	97	96					11																	66811136		2200	4295	6495	SO:0001583	missense	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.649T>G	11.37:g.66811136T>G	ENSP00000377520:p.Phe217Val			Missense_Mutation	SNP	ENST00000393946.2	37	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642903	0.87859	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.72167	-0.63;-0.63;-0.63	5.25	5.25	0.73442	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.75860	0.3907	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.70487	0.969	T	0.78750	-0.2082	10	0.87932	D	0	.	13.1482	0.59474	0.0:0.0:0.0:1.0	.	217	Q8IV01	SYT12_HUMAN	V	217	ENSP00000377520:F217V;ENSP00000431400:F217V;ENSP00000435316:F217V	ENSP00000377520:F217V	F	+	1	0	SYT12	66567712	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.922000	0.87538	1.999000	0.58509	0.459000	0.35465	TTT		0.562	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		G	66811136	T	G	66811136	3	3	140	1	0	0	0	0	1	0	0	0	15473	1609	56	5	663	5	SYT12	11	66811136	Missense_Mutation	SNP	T	TCGA-B0-4813-01A-01D-1361-10		66811136	68195380	31	8357											
CNTN1	1272	hgsc.bcm.edu	37	12	41327530	41327530	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr12:41327530C>A	ENST00000551295.2	+	9	952	c.835C>A	c.(835-837)Cta>Ata	p.L279I	CNTN1_ENST00000360099.3_Missense_Mutation_p.L279I|CNTN1_ENST00000348761.2_Missense_Mutation_p.L268I|CNTN1_ENST00000547702.1_Missense_Mutation_p.L279I|CNTN1_ENST00000347616.1_Missense_Mutation_p.L279I|CNTN1_ENST00000547849.1_Missense_Mutation_p.L279I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	279	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCGGAAGGTTCTAGAACCAAT	0.398																																																0													95	96	96					12																	41327530		2202	4299	6501	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.835C>A	12.37:g.41327530C>A	ENSP00000447006:p.Leu279Ile		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491514	0.44249	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.48	4.57	0.56435	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.460512	0.22646	N	0.057387	T	0.55065	0.1897	N	0.20483	0.58	0.27352	N	0.956227	B;B;B	0.31274	0.317;0.174;0.209	B;B;B	0.35470	0.203;0.083;0.135	T	0.57219	-0.7849	10	0.87932	D	0	.	13.5298	0.61615	0.2835:0.7165:0.0:0.0	.	279;268;279	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	I	279;279;279;279;279;268	ENSP00000448004:L279I;ENSP00000447006:L279I;ENSP00000448653:L279I;ENSP00000325660:L279I;ENSP00000353213:L279I;ENSP00000261160:L268I	ENSP00000325660:L279I	L	+	1	2	CNTN1	39613797	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	2.720000	0.47252	1.412000	0.46977	0.650000	0.86243	CTA		0.398	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		A	41327530	C	A	41327530	3	1	140	1	0	0	0	0	1	0	0	0	3642	912	32	4	865	4	CNTN1	12	41327530	Missense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10		41327530	92524365	32	8358											
SLC16A7	9194	hgsc.bcm.edu	37	12	60165123	60165123	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr12:60165123T>G	ENST00000261187.4	+	3	505	c.341T>G	c.(340-342)cTc>cGc	p.L114R	SLC16A7_ENST00000547379.1_Missense_Mutation_p.L114R|SLC16A7_ENST00000543448.1_Missense_Mutation_p.L15R|SLC16A7_ENST00000552024.1_Missense_Mutation_p.L114R|SLC16A7_ENST00000552432.1_Missense_Mutation_p.L114R	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	114					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	CAGCTGTACCTCACTATGGGA	0.423																																																0													223	195	205					12																	60165123		2203	4300	6503	SO:0001583	missense	9194			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.341T>G	12.37:g.60165123T>G	ENSP00000261187:p.Leu114Arg		Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335270	0.81801	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.94	5.94	0.96194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.618933	0.16830	N	0.197793	T	0.77239	0.4101	M	0.88181	2.935	0.49299	D	0.999779	D	0.53745	0.962	D	0.66979	0.948	T	0.79680	-0.1702	9	.	.	.	.	16.3908	0.83537	0.0:0.0:0.0:1.0	.	114	O60669	MOT2_HUMAN	R	114;114;114;114;114;15	ENSP00000449547:L114R;ENSP00000448071:L114R;ENSP00000448742:L114R;ENSP00000446722:L114R;ENSP00000261187:L114R;ENSP00000443731:L15R	.	L	+	2	0	SLC16A7	58451390	1.000000	0.71417	0.087000	0.20705	0.030000	0.12068	7.948000	0.87774	2.269000	0.75478	0.455000	0.32223	CTC		0.423	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		G	60165123	T	G	60165123	3	3	140	1	0	0	0	0	1	0	0	0	14419	1551	54	5	347	5	SLC16A7	12	60165123	Missense_Mutation	SNP	T	TCGA-B0-4813-01A-01D-1361-10	18837593	60165123	73686772	33	8359											
BEST3	144453	hgsc.bcm.edu;ucsc.edu	37	12	70048909	70048909	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr12:70048909G>T	ENST00000330891.5	-	10	2011	c.1785C>A	c.(1783-1785)ttC>ttA	p.F595L	BEST3_ENST00000488961.1_Missense_Mutation_p.F382L|BEST3_ENST00000553096.1_Missense_Mutation_p.F489L|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	595					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGGACCCCAGGAATCCCGGAA	0.498																																																0													65	62	63					12																	70048909		1847	4101	5948	SO:0001583	missense	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1785C>A	12.37:g.70048909G>T	ENSP00000332413:p.Phe595Leu		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	7.590	0.670658	0.14776	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98178	-4.59;-4.76;-4.77	5.2	-2.5	0.06384	.	0.440966	0.23563	N	0.046837	D	0.91821	0.7412	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.003	D	0.84481	0.0605	10	0.11182	T	0.66	-6.8811	5.0912	0.14710	0.3831:0.271:0.3459:0.0	.	595;382	Q8N1M1;B5MDI8	BEST3_HUMAN;.	L	382;595;489	ENSP00000433213:F382L;ENSP00000332413:F595L;ENSP00000449548:F489L	ENSP00000332413:F595L	F	-	3	2	BEST3	68335176	0.916000	0.31088	0.001000	0.08648	0.017000	0.09413	0.324000	0.19610	-0.297000	0.08934	0.563000	0.77884	TTC		0.498	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		T	70048909	G	T	70048909	3	4	140	1	0	0	0	0	1	0	0	0	1406	1165	41	4	225	4	BEST3	12	70048909	Missense_Mutation	SNP	G	TCGA-B0-4813-01A-01D-1361-10	9883786	70048909	63802986	34	8360											
RBM19	9904	hgsc.bcm.edu;ucsc.edu	37	12	114380203	114380203	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr12:114380203C>T	ENST00000545145.2	-	14	1741	c.1663G>A	c.(1663-1665)Ggg>Agg	p.G555R	RBM19_ENST00000261741.5_Missense_Mutation_p.G555R|RBM19_ENST00000392561.3_Missense_Mutation_p.G555R	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	555					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G555R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGGGTTTCCCCCAGAGCCACG	0.622																																																1	Substitution - Missense(1)	breast(1)											39	36	37					12																	114380203		2203	4300	6503	SO:0001583	missense	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1663G>A	12.37:g.114380203C>T	ENSP00000442053:p.Gly555Arg		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574353	0.65878	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05925	3.37;3.37;3.37	4.48	4.48	0.54585	Nucleotide-binding, alpha-beta plait (1);	0.054850	0.64402	D	0.000001	T	0.29423	0.0733	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.14448	-1.0472	10	0.51188	T	0.08	-35.0945	17.156	0.86791	0.0:1.0:0.0:0.0	.	555	Q9Y4C8	RBM19_HUMAN	R	555	ENSP00000442053:G555R;ENSP00000376344:G555R;ENSP00000261741:G555R	ENSP00000261741:G555R	G	-	1	0	RBM19	112864586	1.000000	0.71417	0.998000	0.56505	0.200000	0.23975	7.375000	0.79646	2.046000	0.60703	0.484000	0.47621	GGG		0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114380203	C	T	114380203	3	4	140	1	0	0	0	0	1	0	0	0	13127	623	22	2	1263	2	RBM19	12	114380203	Missense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10	44331294	114380203	19471692	35	8361											
NOS1	4842	hgsc.bcm.edu	37	12	117662919	117662919	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr12:117662919C>A	ENST00000338101.4	-	25	3834	c.3830G>T	c.(3829-3831)cGg>cTg	p.R1277L	NOS1_ENST00000317775.6_Missense_Mutation_p.R1243L|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	67					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTGGGGGTTCCGGGGCAGGTG	0.542																																					Esophageal Squamous(162;1748 2599 51982 52956)											0													83	95	91					12																	117662919		1920	4135	6055	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3830G>T	12.37:g.117662919C>A	ENSP00000337459:p.Arg1277Leu			Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610575	0.46527	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	T;T	0.76186	-1.0;-1.0	4.93	2.06	0.26882	.	0.240558	0.41938	D	0.000795	T	0.52789	0.1756	N	0.12961	0.28	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42616	-0.9441	10	0.42905	T	0.14	-6.3683	6.863	0.24077	0.0:0.5177:0.0:0.4823	.	1243	P29475	NOS1_HUMAN	L	1138;1243;1277	ENSP00000320758:R1243L;ENSP00000337459:R1277L	ENSP00000320758:R1243L	R	-	2	0	NOS1	116147302	0.992000	0.36948	0.996000	0.52242	0.990000	0.78478	0.914000	0.28624	0.679000	0.31345	0.561000	0.74099	CGG		0.542	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117662919	C	A	117662919	3	1	140	1	0	0	0	0	1	0	0	0	10543	652	23	4	596	4	NOS1	12	117662919	Missense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10	3282716	117662919	16188976	36	8362											
SYNE2	23224	hgsc.bcm.edu;ucsc.edu	37	14	64496675	64496675	+	Silent	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr14:64496675A>G	ENST00000344113.4	+	44	6989	c.6777A>G	c.(6775-6777)acA>acG	p.T2259T	SYNE2_ENST00000554584.1_Silent_p.T2259T|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.T2259T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2259					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGCGTCACAGACCTGAATA	0.383																																																0													88	84	85					14																	64496675		1828	4089	5917	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6777A>G	14.37:g.64496675A>G			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64496675	A	G	64496675	2	3	140	1	0	0	0	0	0	0	0	1	15451	175	7	3		3	SYNE2	14	64496675	Silent	SNP	A	TCGA-B0-4813-01A-01D-1361-10		64496675	42852865	37	8363											
KIAA0284	283638	hgsc.bcm.edu;ucsc.edu	37	14	105356097	105356097	+	Splice_Site	SNP	T	T	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr14:105356097T>G	ENST00000414716.3	+	13	4106		c.e13+2		CEP170B_ENST00000453495.1_Splice_Site|CEP170B_ENST00000556508.1_Splice_Site|CEP170B_ENST00000418279.1_Splice_Site	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B							cytoplasm (GO:0005737)|microtubule (GO:0005874)											GATTGCCAGGTGAGTAGCCCA	0.607																																																0													66	69	68					14																	105356097		2039	4166	6205	SO:0001630	splice_region_variant	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3878+2T>G	14.37:g.105356097T>G			Q2KHR7|Q86TI7	Splice_Site	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926602	0.34002	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.717	0.62702	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0284	104427142	1.000000	0.71417	0.994000	0.49952	0.130000	0.20726	7.525000	0.81892	1.637000	0.50538	0.391000	0.25812	.		0.607	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	Intron	G	105356097	T	G	105356097	5	3	140	1	0	0	0	0	0	0	1	0	8168	1710	59	5	3926	5	KIAA0284	14	105356097	Splice_Site	SNP	T	TCGA-B0-4813-01A-01D-1361-10	40859422	105356097	1993443	38	8364											
GABRB3	2562	hgsc.bcm.edu;ucsc.edu	37	15	26812770	26812770	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr15:26812770A>C	ENST00000311550.5	-	7	904	c.793T>G	c.(793-795)Ttc>Gtc	p.F265V	GABRB3_ENST00000299267.4_Missense_Mutation_p.F265V|GABRB3_ENST00000545868.1_Missense_Mutation_p.F180V|GABRB3_ENST00000541819.2_Missense_Mutation_p.F321V|GABRB3_ENST00000400188.3_Missense_Mutation_p.F194V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	265					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGATCCAGAAGGACACCCAC	0.388																																																0													133	113	120					15																	26812770		2203	4300	6503	SO:0001583	missense	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.793T>G	15.37:g.26812770A>C	ENSP00000308725:p.Phe265Val		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.938037	0.92526	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.98015	0.9346	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98877	1.0768	10	0.87932	D	0	.	15.7938	0.78394	1.0:0.0:0.0:0.0	.	321;265;265	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	265;321;265;194;180	ENSP00000308725:F265V;ENSP00000442408:F321V;ENSP00000299267:F265V;ENSP00000383049:F194V;ENSP00000439169:F180V	ENSP00000299267:F265V	F	-	1	0	GABRB3	24363863	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.204000	0.95041	2.322000	0.78497	0.528000	0.53228	TTC		0.388	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			C	26812770	A	C	26812770	3	2	140	1	0	0	0	0	1	0	0	0	6170	72	3	5	640	5	GABRB3	15	26812770	Missense_Mutation	SNP	A	TCGA-B0-4813-01A-01D-1361-10		26812770	75718622	39	8365											
GATM	2628	hgsc.bcm.edu;ucsc.edu	37	15	45654362	45654362	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr15:45654362T>C	ENST00000396659.3	-	9	1556	c.1217A>G	c.(1216-1218)cAt>cGt	p.H406R		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	406					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GGTCCAGCAATGGAAGCCTCC	0.498																																																0													93	79	84					15																	45654362		2198	4298	6496	SO:0001583	missense	2628			S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.1217A>G	15.37:g.45654362T>C	ENSP00000379895:p.His406Arg		B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335036	0.81801	.	.	ENSG00000171766	ENST00000396659	T	0.43294	0.95	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74163	-0.3754	10	0.21540	T	0.41	-17.9422	13.7746	0.63046	0.0:0.0:0.0:1.0	.	406	P50440	GATM_HUMAN	R	406	ENSP00000379895:H406R	ENSP00000379895:H406R	H	-	2	0	GATM	43441654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.198000	0.70561	0.533000	0.62120	CAT		0.498	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		C	45654362	T	C	45654362	3	2	140	1	0	0	0	0	1	0	0	0	6265	1464	51	3	58	3	GATM	15	45654362	Missense_Mutation	SNP	T	TCGA-B0-4813-01A-01D-1361-10	18841592	45654362	56877030	40	8366											
RNPS1	10921	hgsc.bcm.edu;ucsc.edu	37	16	2314218	2314218	+	Silent	SNP	G	G	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr16:2314218G>C	ENST00000565678.1	-	3	731	c.186C>G	c.(184-186)acC>acG	p.T62T	RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000397086.2_Silent_p.T62T|RNPS1_ENST00000320225.5_Silent_p.T62T|RNPS1_ENST00000301730.8_Silent_p.T62T|RNPS1_ENST00000568631.1_Silent_p.T62T|RNPS1_ENST00000567147.1_Silent_p.T39T|RNPS1_ENST00000566458.1_Silent_p.T39T|RNPS1_ENST00000566397.1_5'UTR			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	62	Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						GCCTCTTTCGGGTTTTGTCCC	0.607																																																0													72	75	74					16																	2314218		2198	4300	6498	SO:0001819	synonymous_variant	10921			AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"RNA binding motif (RRM) containing"	10080	protein-coding gene	gene with protein product		606447	"RNA-binding protein S1, serine-rich domain"			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.186C>G	16.37:g.2314218G>C			A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Silent	SNP	ENST00000565678.1	37	CCDS10465.1																																																																																				0.607	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		C	2314218	G	C	2314218	2	2	140	1	0	0	0	0	0	0	0	1	13517	1219	43	4		4	RNPS1	16	2314218	Silent	SNP	G	TCGA-B0-4813-01A-01D-1361-10		2314218	88040535	41	8367											
PRKAR1A	5573	hgsc.bcm.edu;ucsc.edu	37	17	66511547	66511547	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr17:66511547T>A	ENST00000589228.1	+	2	135	c.7T>A	c.(7-9)Tct>Act	p.S3T	PRKAR1A_ENST00000392711.1_Missense_Mutation_p.S3T|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.S3T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.S3T|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.S3T|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.S3T	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	3	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AACCATGGAGTCTGGCAGTAC	0.433			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"		"E, M"	0													63	55	58					17																	66511547		2203	4300	6503	SO:0001583	missense	5573	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.7T>A	17.37:g.66511547T>A	ENSP00000464977:p.Ser3Thr		K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.375088	0.42105	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D;D	0.88818	-2.19;-2.19;-2.43;-2.19	5.1	2.51	0.30379	.	0.466245	0.23930	N	0.043149	D	0.83871	0.5348	M	0.65320	2	0.42482	D	0.992866	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.76537	-0.2923	10	0.36615	T	0.2	-15.5971	5.387	0.16224	0.3122:0.0:0.2666:0.4212	.	3;3	B2R5T5;P10644	.;KAP0_HUMAN	T	3	ENSP00000351410:S3T;ENSP00000376475:S3T;ENSP00000376474:S3T;ENSP00000445625:S3T	ENSP00000351410:S3T	S	+	1	0	PRKAR1A	64023142	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.404000	0.52623	0.733000	0.32492	0.528000	0.53228	TCT		0.433	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			A	66511547	T	A	66511547	3	1	140	1	0	0	0	0	1	0	0	0	12508	1667	58	5	9	5	PRKAR1A	17	66511547	Missense_Mutation	SNP	T	TCGA-B0-4813-01A-01D-1361-10		66511547	14683663	42	8368											
MOCOS	55034	hgsc.bcm.edu	37	18	33793366	33793366	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr18:33793366G>A	ENST00000261326.5	+	7	1277	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.R419Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATCCACCTGCGAACTGGCTGC	0.498																																																1	Substitution - Missense(1)	large_intestine(1)											70	62	65					18																	33793366		2203	4300	6503	SO:0001583	missense	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1256G>A	18.37:g.33793366G>A	ENSP00000261326:p.Arg419Gln			Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657160	0.88154	.	.	ENSG00000075643	ENST00000261326	D	0.88896	-2.44	5.56	5.56	0.83823	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.96256	0.8779	H	0.96365	3.81	0.51767	D	0.999939	D	0.89917	1.0	D	0.85130	0.997	D	0.97216	0.9874	10	0.87932	D	0	-14.882	15.0208	0.71630	0.0:0.0:1.0:0.0	.	419	Q96EN8	MOCOS_HUMAN	Q	419	ENSP00000261326:R419Q	ENSP00000261326:R419Q	R	+	2	0	MOCOS	32047364	1.000000	0.71417	0.987000	0.45799	0.464000	0.32679	9.452000	0.97615	2.619000	0.88677	0.555000	0.69702	CGA		0.498	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			A	33793366	G	A	33793366	3	1	140	1	0	0	0	0	1	0	0	0	9691	1058	37	1	1282	1	MOCOS	18	33793366	Missense_Mutation	SNP	G	TCGA-B0-4813-01A-01D-1361-10		33793366	44283882	43	8369											
DCC	1630	hgsc.bcm.edu;ucsc.edu	37	18	50923805	50923805	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr18:50923805C>T	ENST00000442544.2	+	18	3432	c.2816C>T	c.(2815-2817)aCg>aTg	p.T939M	DCC_ENST00000581580.1_Missense_Mutation_p.T574M|DCC_ENST00000412726.1_Missense_Mutation_p.T767M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	939	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CATGCCACCACGTATGAAGCA	0.443																																																0													105	90	95					18																	50923805		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2816C>T	18.37:g.50923805C>T	ENSP00000389140:p.Thr939Met			Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776257	0.49786	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.64991	-0.13;-0.13	5.8	5.8	0.92144	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83665	0.0163	10	0.87932	D	0	.	18.8301	0.92135	0.0:1.0:0.0:0.0	.	767;767;939	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	M	939;767	ENSP00000389140:T939M;ENSP00000397322:T767M	ENSP00000397322:T767M	T	+	2	0	DCC	49177803	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	7.722000	0.84778	2.741000	0.93983	0.650000	0.86243	ACG		0.443	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		T	50923805	C	T	50923805	3	4	140	1	0	0	0	0	1	0	0	0	4284	536	19	1	2886	1	DCC	18	50923805	Missense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10	17130439	50923805	27153443	44	8370											
ZFR2	23217	hgsc.bcm.edu	37	19	3833722	3833722	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr19:3833722A>T	ENST00000262961.4	-	3	329	c.319T>A	c.(319-321)Tac>Aac	p.Y107N	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	107							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GACTGGAAGTACGGCCTGTCC	0.627																																																0													38	46	43					19																	3833722		2198	4294	6492	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.319T>A	19.37:g.3833722A>T	ENSP00000262961:p.Tyr107Asn			Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	A	9.541	1.113345	0.20795	.	.	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.18960	2.99;2.18	3.03	-4.06	0.03986	.	0.840574	0.10362	U	0.683940	T	0.14098	0.0341	L	0.46157	1.445	0.09310	N	0.999999	P	0.35011	0.48	B	0.28553	0.091	T	0.08066	-1.0740	10	0.72032	D	0.01	1.1747	6.903	0.24293	0.2822:0.6018:0.116:0.0	.	107	Q9UPR6	ZFR2_HUMAN	N	107	ENSP00000262961:Y107N;ENSP00000388974:Y107N	ENSP00000262961:Y107N	Y	-	1	0	ZFR2	3784722	0.047000	0.20315	0.000000	0.03702	0.001000	0.01503	0.807000	0.27140	-1.149000	0.02843	-0.558000	0.04189	TAC		0.627	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		T	3833722	A	T	3833722	3	4	140	1	0	0	0	0	1	0	0	0	17665	391	14	5	2568	5	ZFR2	19	3833722	Missense_Mutation	SNP	A	TCGA-B0-4813-01A-01D-1361-10		3833722	55295261	45	8371											
ZNF791	163049	hgsc.bcm.edu;ucsc.edu	37	19	12739350	12739350	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr19:12739350C>T	ENST00000343325.4	+	4	1169	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F	ZNF791_ENST00000540038.1_Missense_Mutation_p.S227F|ZNF791_ENST00000458122.3_Missense_Mutation_p.S304F|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTGGGAAATCTTTCAGTGCA	0.408																																																0													51	56	54					19																	12739350		2203	4300	6503	SO:0001583	missense	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1007C>T	19.37:g.12739350C>T	ENSP00000342974:p.Ser336Phe		B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471736	0.26423	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.51574	0.7;0.7;0.7	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38585	0.1046	L	0.49699	1.58	0.09310	N	1	P	0.45126	0.851	B	0.41374	0.355	T	0.33394	-0.9870	9	0.72032	D	0.01	.	4.3047	0.10940	0.0:0.7871:0.0:0.2129	.	336	Q3KP31	ZN791_HUMAN	F	336;318;304;227	ENSP00000342974:S336F;ENSP00000441761:S304F;ENSP00000441038:S227F	ENSP00000342974:S336F	S	+	2	0	ZNF791	12600350	0.000000	0.05858	0.039000	0.18376	0.807000	0.45602	-0.027000	0.12371	1.007000	0.39238	0.491000	0.48974	TCT		0.408	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		T	12739350	C	T	12739350	3	4	140	1	0	0	0	0	1	0	0	0	18168	913	32	2	1021	2	ZNF791	19	12739350	Missense_Mutation	SNP	C	TCGA-B0-4813-01A-01D-1361-10	8905628	12739350	46389633	46	8372											
PDE4C	5143	hgsc.bcm.edu	37	19	18327573	18327573	+	Missense_Mutation	SNP	A	A	T	rs144273719		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr19:18327573A>T	ENST00000355502.3	-	16	2334	c.1463T>A	c.(1462-1464)cTg>cAg	p.L488Q	PDE4C_ENST00000262805.12_Missense_Mutation_p.L456Q|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.L488Q|PDE4C_ENST00000539010.1_Missense_Mutation_p.L257Q|PDE4C_ENST00000594465.3_Missense_Mutation_p.L488Q|PDE4C_ENST00000598111.2_Missense_Mutation_p.L203Q|PDE4C_ENST00000447275.3_Missense_Mutation_p.L382Q|PDE4C_ENST00000597297.1_Missense_Mutation_p.L258Q			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	488					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.L488P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CATCCTGCGCAGACTCAGTCG	0.617																																																1	Substitution - Missense(1)	skin(1)											97	90	92					19																	18327573		2203	4300	6503	SO:0001583	missense	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1463T>A	19.37:g.18327573A>T	ENSP00000347689:p.Leu488Gln		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	a	19.47	3.833054	0.71258	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	4.52	4.52	0.55395	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000003	D	0.93413	0.7899	M	0.92923	3.36	0.37188	D	0.90379	D;D;D;D	0.89917	0.998;1.0;0.999;0.998	D;D;D;D	0.85130	0.959;0.997;0.994;0.988	D	0.95786	0.8821	10	0.87932	D	0	.	11.8181	0.52222	1.0:0.0:0.0:0.0	.	488;456;294;203	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	Q	567;488;476;456;382;294;202;257;597	ENSP00000347689:L488Q;ENSP00000262805:L456Q;ENSP00000402091:L382Q;ENSP00000439470:L257Q	ENSP00000262805:L456Q	L	-	2	0	PDE4C	18188573	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	8.803000	0.91915	1.682000	0.51000	0.392000	0.25879	CTG		0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			T	18327573	A	T	18327573	3	4	140	1	0	0	0	0	1	0	0	0	11643	188	7	5	691	5	PDE4C	19	18327573	Missense_Mutation	SNP	A	TCGA-B0-4813-01A-01D-1361-10	5588223	18327573	40801410	47	8373											
ZNF100	163227	hgsc.bcm.edu	37	19	21910451	21910451	+	Silent	SNP	A	A	C	rs35587380	byFrequency	TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr19:21910451A>C	ENST00000358296.6	-	5	861	c.663T>G	c.(661-663)acT>acG	p.T221T	ZNF100_ENST00000305570.6_Silent_p.T157T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTTTATGTTGAGTTAGGTGTA	0.318													N|||	514	0.102636	0.1369	0.0533	5008	,	,		19858	0.0218		0.0596	False		,,,				2504	0.2188															0								A		621,3465		51,519,1473	53	55	55		663	1	0	19	dbSNP_126	55	631,7821		23,585,3618	no	coding-synonymous	ZNF100	NM_173531.3		74,1104,5091	CC,CA,AA		7.4657,15.1982,9.9856		221/543	21910451	1252,11286	2043	4226	6269	SO:0001819	synonymous_variant	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.663T>G	19.37:g.21910451A>C			Q7M4M0	Silent	SNP	ENST00000358296.6	37	CCDS42538.1																																																																																				0.318	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		C	21910451	A	C	21910451	2	2	140	1	0	0	0	0	0	0	0	1	17718	291	11	5		5	ZNF100	19	21910451	Silent	SNP	A	TCGA-B0-4813-01A-01D-1361-10	3582878	21910451	37218532	48	8374											
ZNF574	64763	hgsc.bcm.edu	37	19	42584386	42584386	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr19:42584386T>G	ENST00000600245.1	+	2	2283	c.1628T>G	c.(1627-1629)cTc>cGc	p.L543R	ZNF574_ENST00000359044.4_Missense_Mutation_p.L543R|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.L633R			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CGCCACCGGCTCACACACACA	0.652																																																0													98	111	107					19																	42584386		2203	4300	6503	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1628T>G	19.37:g.42584386T>G	ENSP00000469029:p.Leu543Arg		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836666	0.50951	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.12255	2.7;2.7	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.09423	0.0232	N	0.00602	-1.34	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.41893	-0.9483	10	0.02654	T	1	-20.6526	14.0101	0.64490	0.0:0.0:0.0:1.0	.	543;632	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	R	633;543;150	ENSP00000222339:L633R;ENSP00000351939:L543R	ENSP00000222339:L633R	L	+	2	0	ZNF574	47276226	0.004000	0.15560	1.000000	0.80357	0.759000	0.43091	1.423000	0.34837	1.958000	0.56883	0.528000	0.53228	CTC		0.652	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		G	42584386	T	G	42584386	3	3	140	1	0	0	0	0	1	0	0	0	18011	1551	54	5	1630	5	ZNF574	19	42584386	Missense_Mutation	SNP	T	TCGA-B0-4813-01A-01D-1361-10	20673935	42584386	16544597	49	8375											
SLC4A11	83959	hgsc.bcm.edu	37	20	3210301	3210301	+	Silent	SNP	G	G	A	rs41281860	byFrequency	TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr20:3210301G>A	ENST00000380056.3	-	13	1706	c.1659C>T	c.(1657-1659)aaC>aaT	p.N553N	SLC4A11_ENST00000380059.3_Silent_p.N580N|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Silent_p.N537N	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	553	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGAAGCTGGCGTTGAGGGCAG	0.642													G|||	243	0.0485224	0.0166	0.0749	5008	,	,		16738	0.003		0.1471	False		,,,				2504	0.0184				NSCLC(190;922 2139 10266 10292 38692)											0								G	,,	170,4236	112.1+/-150.2	2,166,2035	64	66	65		1611,1740,1659	0.6	0.1	20	dbSNP_127	65	1050,7550	222.4+/-259.5	74,902,3324	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A11	NM_001174089.1,NM_001174090.1,NM_032034.3	,,	76,1068,5359	AA,AG,GG		12.2093,3.8584,9.3803	,,	537/876,580/919,553/892	3210301	1220,11786	2203	4300	6503	SO:0001819	synonymous_variant	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1659C>T	20.37:g.3210301G>A			B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																				0.642	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			A	3210301	G	A	3210301	2	1	140	1	0	0	0	0	0	0	0	1	14658	1136	40	1		1	SLC4A11	20	3210301	Silent	SNP	G	TCGA-B0-4813-01A-01D-1361-10		3210301	59815219	50	8376											
PLCB1	23236	hgsc.bcm.edu;ucsc.edu	37	20	8713925	8713925	+	Silent	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr20:8713925C>T	ENST00000338037.6	+	19	1956	c.1929C>T	c.(1927-1929)aaC>aaT	p.N643N	PLCB1_ENST00000378641.3_Silent_p.N643N|PLCB1_ENST00000378637.2_Silent_p.N643N|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	643	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATGAATACAACGGGAAGAGTG	0.408																																																0													127	120	122					20																	8713925		2203	4300	6503	SO:0001819	synonymous_variant	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1929C>T	20.37:g.8713925C>T			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	CCDS13102.1																																																																																				0.408	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			T	8713925	C	T	8713925	2	4	140	1	0	0	0	0	0	0	0	1	12029	535	19	1		1	PLCB1	20	8713925	Silent	SNP	C	TCGA-B0-4813-01A-01D-1361-10	5503624	8713925	54311595	51	8377											
KRTAP10-8	386681	hgsc.bcm.edu	37	21	46032305	46032305	+	Silent	SNP	T	T	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr21:46032305T>C	ENST00000334662.2	+	1	310	c.288T>C	c.(286-288)ccT>ccC	p.P96P	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	96	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CCTGCACACCTTCATGCTGCC	0.657																																																0													88	83	85					21																	46032305		2203	4300	6503	SO:0001819	synonymous_variant	386681			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"Keratin associated proteins"	20525	protein-coding gene	gene with protein product			"keratin associated protein 18-8"	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.288T>C	21.37:g.46032305T>C			A0JNW4	Silent	SNP	ENST00000334662.2	37	CCDS13713.1																																																																																				0.657	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		C	46032305	T	C	46032305	2	2	140	1	0	0	0	0	0	0	0	1	8517	1596	56	3		3	KRTAP10-8	21	46032305	Silent	SNP	T	TCGA-B0-4813-01A-01D-1361-10		46032305	2097590	52	8378											
USP18	11274	hgsc.bcm.edu	37	22	18655999	18655999	+	Missense_Mutation	SNP	A	A	G	rs138527339		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr22:18655999A>G	ENST00000215794.7	+	9	1404	c.974A>G	c.(973-975)aAt>aGt	p.N325S		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	325	USP.				cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TACATCCGGAATGCTGTGGAT	0.493																																																0													24	22	23					22																	18655999		2188	4270	6458	SO:0001583	missense	11274			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.974A>G	22.37:g.18655999A>G	ENSP00000215794:p.Asn325Ser		Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	CCDS13752.1	165	0.07554945054945054	49	0.09959349593495935	12	0.03314917127071823	22	0.038461538461538464	82	0.10817941952506596	.	1.766	-0.485694	0.04352	.	.	ENSG00000184979	ENST00000215794;ENST00000441683	T	0.05513	3.43	4.83	3.8	0.43715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.273193	0.42172	N	0.000760	T	0.00109	0.0003	L	0.33339	1.005	0.22989	N	0.998462	B	0.18310	0.027	B	0.18871	0.023	T	0.48103	-0.9064	10	0.07175	T	0.84	.	6.5499	0.22427	0.8058:0.0:0.1942:0.0	.	325	Q9UMW8	UBP18_HUMAN	S	325;157	ENSP00000215794:N325S	ENSP00000215794:N325S	N	+	2	0	USP18	17035999	0.964000	0.33143	0.892000	0.35008	0.256000	0.26092	1.980000	0.40618	0.798000	0.33994	0.519000	0.50382	AAT		0.493	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			G	18655999	A	G	18655999	3	3	140	1	0	0	0	0	1	0	0	0	17054	101	4	3	1004	3	USP18	22	18655999	Missense_Mutation	SNP	A	TCGA-B0-4813-01A-01D-1361-10		18655999	32648567	53	8379											
CYTH4	27128	hgsc.bcm.edu	37	22	37708130	37708130	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr22:37708130G>C	ENST00000248901.6	+	12	1214	c.1027G>C	c.(1027-1029)Ggc>Cgc	p.G343R		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	343	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CGATGGCGACGGCAGGGTGGT	0.622																																																0													128	112	118					22																	37708130		2203	4300	6503	SO:0001583	missense	27128			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.1027G>C	22.37:g.37708130G>C	ENSP00000248901:p.Gly343Arg		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	CCDS13946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.089952|4.089952	0.76756|0.76756	.|.	.|.	ENSG00000100055|ENSG00000100055	ENST00000248901|ENST00000446506	T|.	0.17054|.	2.3|.	4.71|4.71	4.71|4.71	0.59529|0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83220|0.83220	0.5207|0.5207	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.86641|0.86641	0.1892|0.1892	10|5	0.87932|.	D|.	0|.	.|.	16.8051|16.8051	0.85625|0.85625	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	343|.	Q9UIA0|.	CYH4_HUMAN|.	R|P	343|95	ENSP00000248901:G343R|.	ENSP00000248901:G343R|.	G|R	+|+	1|2	0|0	CYTH4|CYTH4	36038076|36038076	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.456000|0.456000	0.32438|0.32438	7.943000|7.943000	0.87716|0.87716	2.339000|2.339000	0.79563|0.79563	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.622	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			C	37708130	G	C	37708130	3	2	140	1	0	0	0	0	1	0	0	0	4208	1116	39	4	1073	4	CYTH4	22	37708130	Missense_Mutation	SNP	G	TCGA-B0-4813-01A-01D-1361-10	19052131	37708130	13596436	54	8380											
PLXNB2	23654	hgsc.bcm.edu;ucsc.edu	37	22	50720489	50720489	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr22:50720489A>G	ENST00000449103.1	-	20	3279	c.3139T>C	c.(3139-3141)Ttc>Ctc	p.F1047L	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1047L			O15031	PLXB2_HUMAN	plexin B2	1047	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCATTGTGGAACACGTAGTCT	0.652																																																0													52	58	56					22																	50720489		2139	4234	6373	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3139T>C	22.37:g.50720489A>G	ENSP00000409171:p.Phe1047Leu		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	A	0.304	-0.971815	0.02215	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.76316	-1.01;-1.01	4.45	1.14	0.20703	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.238380	0.05493	N	0.556932	T	0.62060	0.2397	N	0.15975	0.35	0.09310	N	1	B	0.18610	0.029	B	0.24701	0.055	T	0.45041	-0.9288	10	0.15952	T	0.53	.	7.9256	0.29872	0.7418:0.0:0.2582:0.0	.	1047	O15031	PLXB2_HUMAN	L	1047	ENSP00000409171:F1047L;ENSP00000352288:F1047L	ENSP00000352288:F1047L	F	-	1	0	PLXNB2	49062616	0.000000	0.05858	0.002000	0.10522	0.085000	0.17905	0.201000	0.17276	-0.028000	0.13850	-0.736000	0.03550	TTC		0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		G	50720489	A	G	50720489	3	3	140	1	0	0	0	0	1	0	0	0	12126	43	2	3	2449	3	PLXNB2	22	50720489	Missense_Mutation	SNP	A	TCGA-B0-4813-01A-01D-1361-10	13012359	50720489	584077	55	8381											
ASMTL	8623	hgsc.bcm.edu	37	X	1546876	1546876	+	Silent	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chrX:1546876A>G	ENST00000381317.3	-	7	680	c.648T>C	c.(646-648)cgT>cgC	p.R216R	ASMTL_ENST00000416733.2_Silent_p.R140R|ASMTL_ENST00000381333.4_Silent_p.R200R|ASMTL_ENST00000534940.1_Silent_p.R158R|ASMTL_ENST00000463763.1_5'UTR	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	216	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTCCTCCGGACGGGGCGGGT	0.647													a|||	3574	0.713658	0.503	0.7205	5008	,	,		15061	0.8562		0.7028	False		,,,				2504	0.8579															0								G	,,	2104,1822		553,998,412	42	48	46		474,600,648	-0.2	0	X	dbSNP_134	46	5719,2511		1970,1779,366	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	2523,2777,778	GG,GA,AA		30.5103,46.4086,35.6449	,,	158/564,200/606,216/622	1546876	7823,4333	1963	4115	6078	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.648T>C	X.37:g.1546876A>G			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	CCDS43917.1																																																																																				0.647	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		G	1546876	A	G	1546876	2	3	140	1	0	0	0	0	0	0	0	1	1046	262	10	3		3	ASMTL	23	1546876	Silent	SNP	A	TCGA-B0-4813-01A-01D-1361-10		1546876	153723684	56	8382											
ARSD	414	hgsc.bcm.edu	37	X	2836007	2836007	+	Missense_Mutation	SNP	G	G	C	rs113556864		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chrX:2836007G>C	ENST00000381154.1	-	5	776	c.701C>G	c.(700-702)gCc>gGc	p.A234G	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	234					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCACGCCGGCCATGCCGGT	0.592																																																0													23	26	25					X																	2836007		2203	4300	6503	SO:0001583	missense	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.701C>G	X.37:g.2836007G>C	ENSP00000370546:p.Ala234Gly		Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	g	5.944	0.358234	0.11239	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93953	-3.32	2.91	1.73	0.24493	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.954305	0.08621	U	0.918475	D	0.93151	0.7819	M	0.87971	2.92	0.09310	N	1	B;B	0.17038	0.02;0.02	B;B	0.24006	0.044;0.05	D	0.84722	0.0740	10	0.34782	T	0.22	.	8.3904	0.32524	0.2179:0.0:0.7821:0.0	.	234;234	E9PAW5;P51689	.;ARSD_HUMAN	G	234	ENSP00000370546:A234G	ENSP00000217890:A234G	A	-	2	0	ARSD	2846007	0.005000	0.15991	0.004000	0.12327	0.014000	0.08584	1.484000	0.35508	1.119000	0.41883	0.273000	0.19326	GCC		0.592	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			C	2836007	G	C	2836007	3	2	140	1	0	0	0	0	1	0	0	0	989	1203	42	4	1257	4	ARSD	23	2836007	Missense_Mutation	SNP	G	TCGA-B0-4813-01A-01D-1361-10	1289131	2836007	152434553	57	8383											
TP73	7161	hgsc.bcm.edu	37	1	3624323	3624323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:3624323C>T	ENST00000378295.4	+	4	552	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	TP73_ENST00000378280.1_Nonsense_Mutation_p.Q84*|TP73_ENST00000357733.3_Nonsense_Mutation_p.Q133*|TP73_ENST00000604074.1_Nonsense_Mutation_p.Q133*|TP73_ENST00000603362.1_Nonsense_Mutation_p.Q133*|TP73_ENST00000346387.4_Nonsense_Mutation_p.Q133*|TP73_ENST00000378290.4_Nonsense_Mutation_p.Q62*|TP73_ENST00000378285.1_Nonsense_Mutation_p.Q84*|TP73_ENST00000604479.1_Nonsense_Mutation_p.Q133*|TP73_ENST00000354437.4_Nonsense_Mutation_p.Q133*|TP73_ENST00000378288.4_Nonsense_Mutation_p.Q84*	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	133	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CACTTTCCAGCAGTCCAGCAC	0.662																																																0													51	47	48					1																	3624323		2202	4300	6502	SO:0001587	stop_gained	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.397C>T	1.37:g.3624323C>T	ENSP00000367545:p.Gln133*		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Nonsense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	38	7.203745	0.98132	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-19.9436	16.3935	0.83548	0.0:1.0:0.0:0.0	.	.	.	.	X	133;133;133;133;84;84;84;62	.	ENSP00000340740:Q133X	Q	+	1	0	TP73	3614183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.671000	0.83941	2.096000	0.63516	0.491000	0.48974	CAG		0.662	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		T	3624323	C	T	3624323	4	4	141	1	0	0	0	0	0	1	0	0	16398	711	25	2	450	2	TP73	1	3624323	Nonsense_Mutation	SNP	C	TCGA-B0-4814-01A-01D-1361-10		3624323	245626298	1	8384											
CATSPER4	378807	hgsc.bcm.edu;ucsc.edu	37	1	26520358	26520358	+	Silent	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:26520358T>C	ENST00000456354.2	+	3	505	c.438T>C	c.(436-438)aaT>aaC	p.N146N		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	146					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCTCAATGGCTTCTGGA	0.517																																																0													171	144	153					1																	26520358		2203	4300	6503	SO:0001819	synonymous_variant	378807			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.438T>C	1.37:g.26520358T>C			A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	CCDS30645.1																																																																																				0.517	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		C	26520358	T	C	26520358	2	2	141	1	0	0	0	0	0	0	0	1	2692	1461	51	3		3	CATSPER4	1	26520358	Silent	SNP	T	TCGA-B0-4814-01A-01D-1361-10	22896035	26520358	222730263	2	8385											
RLF	6018	hgsc.bcm.edu	37	1	40627266	40627266	+	Silent	SNP	G	G	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:40627266G>C	ENST00000372771.4	+	1	222	c.195G>C	c.(193-195)gtG>gtC	p.V65V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	65					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGCAAGAGGTGTCGGAGGTCT	0.667																																																0													77	81	80					1																	40627266		2203	4300	6503	SO:0001819	synonymous_variant	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.195G>C	1.37:g.40627266G>C			Q14CQ1|Q9NU60	Silent	SNP	ENST00000372771.4	37	CCDS448.1																																																																																				0.667	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		C	40627266	G	C	40627266	2	2	141	1	0	0	0	0	0	0	0	1	13395	1364	48	4		4	RLF	1	40627266	Silent	SNP	G	TCGA-B0-4814-01A-01D-1361-10	14106908	40627266	208623355	3	8386											
ZNF687	5298	hgsc.bcm.edu;ucsc.edu	37	1	151261955	151261955	+	IGR	SNP	T	T	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:151261955T>G	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.F858C			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCAGTGTCTTTAAGTGCCCG	0.537																																					Colon(154;765 1838 9854 28443 37492)											0													168	145	153					1																	151261955		2203	4300	6503	SO:0001628	intergenic_variant	57592			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151261955T>G			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.067982|4.067982	0.76301|0.76301	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879|ENST00000426871	T;T;T|.	0.33654|.	1.4;1.4;1.4|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);|.	0.000000|.	0.36002|.	N|.	0.002842|.	T|T	0.65228|0.65228	0.2671|0.2671	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.66744|0.66744	-0.5846|-0.5846	10|5	0.87932|.	D|.	0|.	-12.7306|-12.7306	14.0604|14.0604	0.64797|0.64797	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	858;858|.	Q8N1G0-2;Q8N1G0|.	.;ZN687_HUMAN|.	C|V	858|461	ENSP00000336620:F858C;ENSP00000319829:F858C;ENSP00000357874:F858C|.	ENSP00000319829:F858C|.	F|L	+|+	2|1	0|2	ZNF687|ZNF687	149528579|149528579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.819000|7.819000	0.86621|0.86621	2.153000|2.153000	0.67306|0.67306	0.459000|0.459000	0.35465|0.35465	TTT|TTA		0.537	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		G	151261955	T	G	151261955	1	3	141	0	1	0	0	0	0	0	0	0	18097	1841	64	5		5	ZNF687	1	151261955	IGR	SNP	T	TCGA-B0-4814-01A-01D-1361-10	110634689	151261955	97988666	4	8387											
BCAN	63827	hgsc.bcm.edu	37	1	156626162	156626162	+	Silent	SNP	G	G	T	rs368128491		TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:156626162G>T	ENST00000329117.5	+	9	2367	c.2031G>T	c.(2029-2031)ggG>ggT	p.G677G	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	677	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGGCTATGGGGGGGACCTGT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16218	0.0		0.0	False		,,,				2504	0.001															0													83	75	78					1																	156626162		2203	4300	6503	SO:0001819	synonymous_variant	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2031G>T	1.37:g.156626162G>T			D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	CCDS1149.1																																																																																				0.627	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		T	156626162	G	T	156626162	2	4	141	1	0	0	0	0	0	0	0	1	1345	1219	43	4		4	BCAN	1	156626162	Silent	SNP	G	TCGA-B0-4814-01A-01D-1361-10	5364207	156626162	92624459	5	8388											
CDK18	5129	hgsc.bcm.edu;ucsc.edu	37	1	205494268	205494268	+	Splice_Site	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:205494268C>T	ENST00000360066.2	+	5	702	c.401C>T	c.(400-402)tCa>tTa	p.S134L	CDK18_ENST00000506784.1_Splice_Site_p.S164L|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Splice_Site_p.S134L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	132							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCCTCTCAGTCAGACATTGGC	0.542											OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(180;489 2072 28461 40831 44265)											0													130	115	120					1																	205494268		2203	4300	6503	SO:0001630	splice_region_variant	5129			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"Cyclin-dependent kinases"	8751	protein-coding gene	gene with protein product		169190	"PCTAIRE protein kinase 3"	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.400-1C>T	1.37:g.205494268C>T		2152	Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038871	0.93630	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000478560;ENST00000443813;ENST00000419301	T;T;T;T;T;T	0.71103	-0.54;-0.53;-0.54;0.09;1.14;1.42	4.73	4.73	0.59995	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.82056	2.57	0.80722	D	1	D;D;D;P	0.71674	0.997;0.997;0.998;0.684	D;D;D;P	0.78314	0.973;0.98;0.991;0.614	D	0.86912	0.2061	10	0.87932	D	0	-7.7081	16.4336	0.83861	0.0:1.0:0.0:0.0	.	96;132;164;134	Q59G02;Q07002;Q07002-3;Q07002-2	.;CDK18_HUMAN;.;.	L	134;164;134;45;143;164	ENSP00000399082:S134L;ENSP00000423665:S164L;ENSP00000353176:S134L;ENSP00000423408:S45L;ENSP00000397831:S143L;ENSP00000391324:S164L	ENSP00000353176:S134L	S	+	2	0	CDK18	203760891	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.629000	0.83207	2.456000	0.83038	0.561000	0.74099	TCA		0.542	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596	Missense_Mutation	T	205494268	C	T	205494268	5	4	141	1	0	0	0	0	0	0	1	0	3136	840	29	2	505	2	CDK18	1	205494268	Splice_Site	SNP	C	TCGA-B0-4814-01A-01D-1361-10	48868106	205494268	43756353	6	8389											
FAM72A	729533	hgsc.bcm.edu	37	1	206153974	206153974	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:206153974T>C	ENST00000367128.3	+	4	1221	c.373T>C	c.(373-375)Tgg>Cgg	p.W125R	FAM72A_ENST00000341209.5_Missense_Mutation_p.W85R|FAM72A_ENST00000367129.2_Missense_Mutation_p.W125R|FAM72A_ENST00000470041.1_3'UTR			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	125						mitochondrion (GO:0005739)				endometrium(2)	2						CGTCCTACTTTGGGGCAACTT	0.308																																																0													94	87	89					1																	206153974		1568	3579	5147	SO:0001583	missense	729533			CR407567	CCDS73016.1	1q32.1	2008-03-26			ENSG00000196550	ENSG00000196550			24044	protein-coding gene	gene with protein product		614710				12477932	Standard	NM_001123168		Approved	MGC57827, RP11-312O7.1	uc001hdr.4	Q5TYM5	OTTHUMG00000042552	ENST00000367128.3:c.373T>C	1.37:g.206153974T>C	ENSP00000356096:p.Trp125Arg		B2RV15|Q5TYM4	Missense_Mutation	SNP	ENST00000367128.3	37	CCDS41458.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.240705	0.58995	.	.	ENSG00000196550	ENST00000367129;ENST00000367128;ENST00000341209	T;T;T	0.36520	1.25;1.25;1.25	3.34	3.34	0.38264	.	0.082348	0.53938	U	0.000057	T	0.56001	0.1956	M	0.73598	2.24	0.52501	D	0.999959	D	0.89917	1.0	D	0.91635	0.999	T	0.59005	-0.7535	10	0.62326	D	0.03	.	9.6461	0.39868	0.0:0.0:0.0:1.0	.	125	Q5TYM5	FA72A_HUMAN	R	125;125;85	ENSP00000356097:W125R;ENSP00000356096:W125R;ENSP00000340661:W85R	ENSP00000340661:W85R	W	+	1	0	FAM72A	204320597	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.842000	0.75379	1.535000	0.49220	0.392000	0.25879	TGG		0.308	FAM72A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100825.1			C	206153974	T	C	206153974	3	2	141	1	0	0	0	0	1	0	0	0	5616	1812	63	3	387	3	FAM72A	1	206153974	Missense_Mutation	SNP	T	TCGA-B0-4814-01A-01D-1361-10	659706	206153974	43096647	7	8390											
OR2T29	343563	hgsc.bcm.edu	37	1	248722722	248722722	+	Missense_Mutation	SNP	T	T	C	rs199528787	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr1:248722722T>C	ENST00000328570.3	-	1	75	c.71A>G	c.(70-72)cAa>cGa	p.Q24R	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGTTTGGATTGTCTGAAGAG	0.493													.|||	2997	0.598442	0.5877	0.6455	5008	,	,		17311	0.5228		0.7247	False		,,,				2504	0.5276															0													51	31	38					1																	248722722		2197	4234	6431	SO:0001583	missense	343563				CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"GPCR / Class A : Olfactory receptors"	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.71A>G	1.37:g.248722722T>C	ENSP00000331774:p.Gln24Arg			Missense_Mutation	SNP	ENST00000328570.3	37	CCDS55695.1	.	.	.	.	.	.	.	.	.	.	t	2.580	-0.297595	0.05532	.	.	ENSG00000182783	ENST00000328570	T	0.00321	8.11	2.73	2.73	0.32206	.	0.522929	0.16025	N	0.233106	T	0.00144	0.0004	N	0.16656	0.425	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.01416	-1.1360	9	0.37606	T	0.19	.	8.6547	0.34055	0.0:0.0:0.0:1.0	.	24	Q8NH02	O2T29_HUMAN	R	24	ENSP00000331774:Q24R	ENSP00000331774:Q24R	Q	-	2	0	OR2T29	246789345	0.000000	0.05858	0.889000	0.34880	0.103000	0.19146	-1.412000	0.02476	1.126000	0.42016	0.165000	0.16767	CAA		0.493	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1	NM_001004694		C	248722722	T	C	248722722	3	2	141	1	0	0	0	0	1	0	0	0	11024	1812	63	3	880	3	OR2T29	1	248722722	Missense_Mutation	SNP	T	TCGA-B0-4814-01A-01D-1361-10	42568748	248722722	527899	8	8391											
APOB	338	hgsc.bcm.edu;ucsc.edu	37	2	21224845	21224845	+	Silent	SNP	C	C	A	rs138421941	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:21224845C>A	ENST00000233242.1	-	29	13576	c.13449G>T	c.(13447-13449)gcG>gcT	p.A4483A	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4483					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCTTCGTCGCAATGGCCT	0.368																																																0													85	91	89					2																	21224845		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13449G>T	2.37:g.21224845C>A			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21224845	C	A	21224845	2	1	141	1	0	0	0	0	0	0	0	1	785	871	31	4		4	APOB	2	21224845	Silent	SNP	C	TCGA-B0-4814-01A-01D-1361-10		21224845	221974528	9	8392											
IL18R1	8809	hgsc.bcm.edu;ucsc.edu	37	2	103013085	103013085	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:103013085A>C	ENST00000409599.1	+	12	1721	c.1365A>C	c.(1363-1365)gaA>gaC	p.E455D	IL18R1_ENST00000233957.1_Missense_Mutation_p.E455D			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	455	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCAGGTATGAACTTGAAAGTG	0.353																																																0													65	67	66					2																	103013085		2203	4300	6503	SO:0001583	missense	8809			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1365A>C	2.37:g.103013085A>C	ENSP00000387211:p.Glu455Asp		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200010	0.79015	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.20200	2.09;2.09;2.09	5.59	1.91	0.25777	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000001	T	0.40522	0.1120	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.12915	-1.0529	10	0.51188	T	0.08	.	6.1401	0.20255	0.7171:0.1375:0.1454:0.0	.	454;455	B7ZKV7;Q13478	.;IL18R_HUMAN	D	455	ENSP00000386663:E455D;ENSP00000387211:E455D;ENSP00000233957:E455D	ENSP00000233957:E455D	E	+	3	2	IL18R1	102379517	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.253000	0.43205	0.480000	0.27534	0.460000	0.39030	GAA		0.353	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		C	103013085	A	C	103013085	3	2	141	1	0	0	0	0	1	0	0	0	7649	40	2	5	1403	5	IL18R1	2	103013085	Missense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10	81788240	103013085	140186288	10	8393											
COBLL1	22837	hgsc.bcm.edu	37	2	165560994	165560994	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:165560994A>T	ENST00000392717.2	-	9	1303	c.1299T>A	c.(1297-1299)agT>agA	p.S433R	COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000194871.6_Missense_Mutation_p.S461R|COBLL1_ENST00000342193.4_Missense_Mutation_p.S395R|COBLL1_ENST00000375458.2_Missense_Mutation_p.S395R|COBLL1_ENST00000409184.3_Missense_Mutation_p.S433R			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	433						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						CTTCTGAAGCACTGTCTGGAG	0.398																																																0													111	111	111					2																	165560994		2203	4300	6503	SO:0001583	missense	22837			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.1299T>A	2.37:g.165560994A>T	ENSP00000376478:p.Ser433Arg		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	A	18.03	3.533490	0.64972	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.8	-2.53	0.06326	.	0.385129	0.25200	N	0.032395	T	0.19446	0.0467	L	0.32530	0.975	0.09310	N	1	P;P;P	0.50443	0.893;0.893;0.935	B;B;P	0.45610	0.312;0.387;0.487	T	0.22871	-1.0204	9	0.31617	T	0.26	-6.3443	5.4446	0.16527	0.4317:0.0:0.4226:0.1456	.	433;461;433	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	R	395;395;433;433;461	.	ENSP00000194871:S461R	S	-	3	2	COBLL1	165269240	0.042000	0.20092	0.010000	0.14722	0.058000	0.15608	0.165000	0.16564	-0.336000	0.08438	0.482000	0.46254	AGT		0.398	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		T	165560994	A	T	165560994	3	4	141	1	0	0	0	0	1	0	0	0	3656	156	6	5	2343	5	COBLL1	2	165560994	Missense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10	62547909	165560994	77638379	11	8394											
DNAJC10	54431	hgsc.bcm.edu	37	2	183622513	183622513	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:183622513G>A	ENST00000264065.7	+	19	2319	c.1904G>A	c.(1903-1905)aGa>aAa	p.R635K		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	635	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCTGAGATAAGATTTTTTCCC	0.313																																					Pancreas(56;860 1183 25669 35822 48585)											0													69	75	73					2																	183622513		2203	4300	6503	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1904G>A	2.37:g.183622513G>A	ENSP00000264065:p.Arg635Lys		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581695	0.96565	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.36878	1.23	5.87	5.87	0.94306	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	N	0.17764	0.52	0.80722	D	1	D;D	0.55605	0.972;0.972	P;P	0.58130	0.833;0.779	T	0.03325	-1.1048	10	0.07990	T	0.79	.	20.193	0.98233	0.0:0.0:1.0:0.0	.	589;635	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	K	635;589	ENSP00000264065:R635K	ENSP00000264065:R635K	R	+	2	0	DNAJC10	183330758	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.693000	0.74582	2.941000	0.99782	0.655000	0.94253	AGA		0.313	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		A	183622513	G	A	183622513	3	1	141	1	0	0	0	0	1	0	0	0	4631	942	33	2	1970	2	DNAJC10	2	183622513	Missense_Mutation	SNP	G	TCGA-B0-4814-01A-01D-1361-10	18061519	183622513	59576860	12	8395											
ABI2	10152	hgsc.bcm.edu;ucsc.edu	37	2	204259531	204259531	+	Silent	SNP	G	G	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:204259531G>T	ENST00000422511.2	+	6	718	c.687G>T	c.(685-687)gtG>gtT	p.V229V	ABI2_ENST00000261017.5_Silent_p.V223V|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000295851.5_Silent_p.V229V|ABI2_ENST00000430418.1_Intron|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000261016.6_Silent_p.V178V|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000424558.1_Silent_p.V223V			Q9NYB9	ABI2_HUMAN	abl-interactor 2	229	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGAGCCCTGTGAGGACAGCTT	0.478																																																0													144	133	137					2																	204259531		2203	4300	6503	SO:0001819	synonymous_variant	10152			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.687G>T	2.37:g.204259531G>T			B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Silent	SNP	ENST00000422511.2	37		.	.	.	.	.	.	.	.	.	.	G	8.778	0.927565	0.18056	.	.	ENSG00000138443	ENST00000451591;ENST00000454023	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0888	9.9138	0.41421	0.0:0.1175:0.595:0.2874	.	.	.	.	L	95;70	.	.	X	+	2	2	ABI2	203967776	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.918000	0.40006	2.806000	0.96561	0.655000	0.94253	TGA		0.478	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		T	204259531	G	T	204259531	2	4	141	1	0	0	0	0	0	0	0	1	89	1277	45	4		4	ABI2	2	204259531	Silent	SNP	G	TCGA-B0-4814-01A-01D-1361-10	20637018	204259531	38939842	13	8396											
MAP2	4133	hgsc.bcm.edu;ucsc.edu	37	2	210559008	210559008	+	Missense_Mutation	SNP	C	C	T	rs146432517		TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr2:210559008C>T	ENST00000360351.4	+	7	2620	c.2114C>T	c.(2113-2115)cCg>cTg	p.P705L	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P701L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	705			P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P705L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATCAATTTGCCGATGTCTTGC	0.438																																					Pancreas(27;423 979 28787 29963)											1	Substitution - Missense(1)	large_intestine(1)						C	,LEU/PRO,,	0,4406		0,0,2203	241	231	234		,2114,,	6.1	1	2	dbSNP_134	234	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,98,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,,	,705/1828,,	210559008	1,13005	2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2114C>T	2.37:g.210559008C>T	ENSP00000353508:p.Pro705Leu		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342024	0.81911	0.0	1.16E-4	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.28666	1.6;1.6	6.06	6.06	0.98353	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000006	T	0.55832	0.1945	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	T	0.52682	-0.8543	10	0.87932	D	0	-13.3508	20.6244	0.99512	0.0:1.0:0.0:0.0	.	701;705	P11137-3;P11137	.;MAP2_HUMAN	L	705;701	ENSP00000353508:P705L;ENSP00000392164:P701L	ENSP00000353508:P705L	P	+	2	0	MAP2	210267253	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.238000	0.78173	2.879000	0.98667	0.650000	0.86243	CCG		0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		T	210559008	C	T	210559008	3	4	141	1	0	0	0	0	1	0	0	0	9237	652	23	1	2128	1	MAP2	2	210559008	Missense_Mutation	SNP	C	TCGA-B0-4814-01A-01D-1361-10	6299477	210559008	32640365	14	8397											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188321	10188321	+	Splice_Site	SNP	G	G	T	rs5030814	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr3:10188321G>T	ENST00000256474.2	+	2	1303		c.e2+1		VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(13)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACACTGCCAGGTACTGACGTT	0.403		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	13	Unknown(13)	kidney(12)|endometrium(1)	GRCh37	CS004297|CS961708	VHL	S	rs5030814						166	158	161					3																	10188321		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.463+1G>T	3.37:g.10188321G>T			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561929	0.65538	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4002	0.74834	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163321	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.278000	0.78587	2.310000	0.77875	0.462000	0.41574	.		0.403	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	T	10188321	G	T	10188321	5	4	141	1	0	0	0	0	0	0	1	0	17167	1275	44	4	470	4	VHL	3	10188321	Splice_Site	SNP	G	TCGA-B0-4814-01A-01D-1361-10		10188321	187834109	15	8398											
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47162268	47162269	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	AT	AT	AT	-	AT	AT	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr3:47162268_47162269delAT	ENST00000409792.3	-	3	3899_3900	c.3857_3858delAT	c.(3856-3858)tatfs	p.Y1286fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1286					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CATTTTGCTGATACTTGTGTCC	0.48			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3857_3858delAT	3.37:g.47162268_47162269delAT	ENSP00000386759:p.Tyr1286fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																				0.48	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47162269	AT	-	47162268	7	5	141	1	0	1	0	1	0	0	0	0	14137	340	12	0	3912	0	SETD2	3	47162268	Frame_Shift_Del	DEL	AT	TCGA-B0-4814-01A-01D-1361-10	36973947	47162268	150860162	16	8399											
POLQ	10721	hgsc.bcm.edu	37	3	121207099	121207099	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr3:121207099T>A	ENST00000264233.5	-	16	4807	c.4679A>T	c.(4678-4680)gAa>gTa	p.E1560V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1560					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAATCCATTTCTGAAAATAT	0.338								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											0													56	57	57					3																	121207099		2203	4299	6502	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4679A>T	3.37:g.121207099T>A	ENSP00000264233:p.Glu1560Val		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473368	0.63737	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.58210	0.35	6.17	6.17	0.99709	.	0.202471	0.50627	D	0.000105	T	0.62466	0.2430	L	0.34521	1.04	0.29325	N	0.867112	D;D	0.76494	0.993;0.999	P;D	0.65010	0.881;0.931	T	0.62723	-0.6794	10	0.66056	D	0.02	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1560;732	O75417;O75417-2	DPOLQ_HUMAN;.	V	1183;1560;1696	ENSP00000264233:E1560V	ENSP00000264233:E1560V	E	-	2	0	POLQ	122689789	1.000000	0.71417	0.978000	0.43139	0.694000	0.40290	4.249000	0.58766	2.371000	0.80710	0.533000	0.62120	GAA		0.338	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		A	121207099	T	A	121207099	3	1	141	1	0	0	0	0	1	0	0	0	12210	1783	62	5	3153	5	POLQ	3	121207099	Missense_Mutation	SNP	T	TCGA-B0-4814-01A-01D-1361-10	74044831	121207099	76815331	17	8400											
SLCO2A1	6578	hgsc.bcm.edu	37	3	133674025	133674025	+	Missense_Mutation	SNP	C	C	T	rs202244173		TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr3:133674025C>T	ENST00000310926.4	-	4	683	c.410G>A	c.(409-411)cGc>cAc	p.R137H	SLCO2A1_ENST00000478651.1_5'Flank|SLCO2A1_ENST00000493729.1_Intron	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	137					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GGCCTGCAAGCGGCTGTTGTT	0.637																																																0													44	44	44					3																	133674025		2203	4300	6503	SO:0001583	missense	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.410G>A	3.37:g.133674025C>T	ENSP00000311291:p.Arg137His		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	0.415	-0.911160	0.02434	.	.	ENSG00000174640	ENST00000310926	T	0.39406	1.08	5.5	-11.0	0.00169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.303740	0.01346	N	0.011720	T	0.17916	0.0430	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36529	-0.9744	10	0.37606	T	0.19	.	8.7006	0.34323	0.2149:0.1949:0.0:0.5901	.	137	Q92959	SO2A1_HUMAN	H	137	ENSP00000311291:R137H	ENSP00000311291:R137H	R	-	2	0	SLCO2A1	135156715	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.320000	0.02700	-4.546000	0.00043	-2.754000	0.00123	CGC		0.637	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		T	133674025	C	T	133674025	3	4	141	1	0	0	0	0	1	0	0	0	14732	768	27	1	1565	1	SLCO2A1	3	133674025	Missense_Mutation	SNP	C	TCGA-B0-4814-01A-01D-1361-10	12466926	133674025	64348405	18	8401											
GK2	2712	hgsc.bcm.edu	37	4	80328113	80328113	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr4:80328113G>T	ENST00000358842.3	-	1	1259	c.1242C>A	c.(1240-1242)gaC>gaA	p.D414E		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GAATTCCACAGTCACGGTTCA	0.403																																																0													131	124	126					4																	80328113		2203	4300	6503	SO:0001583	missense	2712			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1242C>A	4.37:g.80328113G>T	ENSP00000351706:p.Asp414Glu		Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074026	0.55646	.	.	ENSG00000196475	ENST00000358842	D	0.85955	-2.05	4.19	2.47	0.30058	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87557	0.6207	L	0.49350	1.555	0.54753	D	0.999981	D	0.76494	0.999	D	0.91635	0.999	D	0.85677	0.1298	10	0.87932	D	0	-24.7715	6.1664	0.20392	0.3003:0.0:0.6997:0.0	.	414	Q14410	GLPK2_HUMAN	E	414	ENSP00000351706:D414E	ENSP00000351706:D414E	D	-	3	2	GK2	80547137	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.331000	0.52075	0.729000	0.32403	0.585000	0.79938	GAC		0.403	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		T	80328113	G	T	80328113	3	4	141	1	0	0	0	0	1	0	0	0	6423	1020	36	4	423	4	GK2	4	80328113	Missense_Mutation	SNP	G	TCGA-B0-4814-01A-01D-1361-10		80328113	110826163	19	8402											
HELQ	113510	hgsc.bcm.edu;ucsc.edu	37	4	84362515	84362515	+	Nonsense_Mutation	SNP	A	A	C	rs371635045		TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr4:84362515A>C	ENST00000295488.3	-	7	1767	c.1605T>G	c.(1603-1605)taT>taG	p.Y535*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.Y468*	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	535					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGTCAACTTCATATATTGTAT	0.294								Other identified genes with known or suspected DNA repair function																																								0													69	67	68					4																	84362515		2201	4299	6500	SO:0001587	stop_gained	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1605T>G	4.37:g.84362515A>C	ENSP00000295488:p.Tyr535*		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Nonsense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	A	39	7.400993	0.98262	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	.	.	.	5.59	4.41	0.53225	.	0.056614	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2327	10.1783	0.42952	0.8612:0.0:0.1388:0.0	.	.	.	.	X	535;468	.	ENSP00000295488:Y535X	Y	-	3	2	HELQ	84581539	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.591000	0.46163	1.057000	0.40506	0.533000	0.62120	TAT		0.294	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		C	84362515	A	C	84362515	4	2	141	1	0	0	0	0	0	1	0	0	7049	224	8	5	1748	5	HELQ	4	84362515	Nonsense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10	4034402	84362515	106791761	20	8403											
PAPD7	11044	hgsc.bcm.edu;ucsc.edu	37	5	6749688	6749688	+	Silent	SNP	C	C	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:6749688C>A	ENST00000230859.6	+	9	984	c.855C>A	c.(853-855)atC>atA	p.I285I		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	515					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAGAATCATCAAAGTAACTC	0.483																																					NSCLC(7;212 333 5667 23379 46547)											0													158	164	162					5																	6749688		2203	4300	6503	SO:0001819	synonymous_variant	11044			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.855C>A	5.37:g.6749688C>A			A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Silent	SNP	ENST00000230859.6	37	CCDS3871.1																																																																																				0.483	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		A	6749688	C	A	6749688	2	1	141	1	0	0	0	0	0	0	0	1	11428	816	29	4		4	PAPD7	5	6749688	Silent	SNP	C	TCGA-B0-4814-01A-01D-1361-10		6749688	174165572	21	8404											
NNT	23530	hgsc.bcm.edu;ucsc.edu	37	5	43659277	43659277	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:43659277T>A	ENST00000264663.5	+	17	2680	c.2459T>A	c.(2458-2460)gTg>gAg	p.V820E	NNT_ENST00000512996.2_Missense_Mutation_p.V689E|NNT_ENST00000344920.4_Missense_Mutation_p.V820E	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	820					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TTCTAGGGTGTGACTTTGACA	0.428																																																0													145	145	145					5																	43659277		2203	4300	6503	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2459T>A	5.37:g.43659277T>A	ENSP00000264663:p.Val820Glu		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239558	0.79800	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.92149	-2.98;-2.98;-2.98	5.92	5.92	0.95590	.	0.054814	0.64402	D	0.000001	D	0.96818	0.8961	M	0.93150	3.385	0.80722	D	1	D	0.57899	0.981	D	0.64687	0.928	D	0.96824	0.9606	10	0.40728	T	0.16	-18.67	16.3742	0.83379	0.0:0.0:0.0:1.0	.	820	Q13423	NNTM_HUMAN	E	335;820;820;689	ENSP00000264663:V820E;ENSP00000343873:V820E;ENSP00000426343:V689E	ENSP00000264663:V820E	V	+	2	0	NNT	43695034	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.698000	0.84413	2.263000	0.75096	0.533000	0.62120	GTG		0.428	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		A	43659277	T	A	43659277	3	1	141	1	0	0	0	0	1	0	0	0	10512	1696	59	5	2521	5	NNT	5	43659277	Missense_Mutation	SNP	T	TCGA-B0-4814-01A-01D-1361-10	36909589	43659277	137255983	22	8405											
EDIL3	10085	hgsc.bcm.edu	37	5	83402558	83402558	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:83402558T>C	ENST00000296591.5	-	6	978	c.560A>G	c.(559-561)cAa>cGa	p.Q187R	EDIL3_ENST00000380138.3_Missense_Mutation_p.Q177R	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	187	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATACCATTTTTGGAGTCCAAA	0.443																																																0													187	193	191					5																	83402558		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.560A>G	5.37:g.83402558T>C	ENSP00000296591:p.Gln187Arg		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705556	0.89018	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98221	-4.8;-4.8	5.55	5.55	0.83447	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.057906	0.64402	N	0.000001	D	0.98362	0.9456	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.81914	0.979;0.995	D	0.99297	1.0900	10	0.49607	T	0.09	-12.9936	15.7058	0.77580	0.0:0.0:0.0:1.0	.	177;187	O43854-2;O43854	.;EDIL3_HUMAN	R	187;177	ENSP00000296591:Q187R;ENSP00000369483:Q177R	ENSP00000296591:Q187R	Q	-	2	0	EDIL3	83438314	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.482000	0.81143	2.126000	0.65437	0.528000	0.53228	CAA		0.443	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		C	83402558	T	C	83402558	3	2	141	1	0	0	0	0	1	0	0	0	4917	1812	63	3	906	3	EDIL3	5	83402558	Missense_Mutation	SNP	T	TCGA-B0-4814-01A-01D-1361-10	39743281	83402558	97512702	23	8406											
BRD8	10902	hgsc.bcm.edu	37	5	137488285	137488285	+	Silent	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:137488285T>C	ENST00000254900.5	-	21	3113	c.2742A>G	c.(2740-2742)gaA>gaG	p.E914E		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	914					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCGGGCTGCTTTCCTCTAGTT	0.557																																																0													217	216	216					5																	137488285		2203	4300	6503	SO:0001819	synonymous_variant	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2742A>G	5.37:g.137488285T>C			O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	CCDS4198.1																																																																																				0.557	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		C	137488285	T	C	137488285	2	2	141	1	0	0	0	0	0	0	0	1	1508	1838	64	3		3	BRD8	5	137488285	Silent	SNP	T	TCGA-B0-4814-01A-01D-1361-10	54085727	137488285	43426975	24	8407											
ANKHD1	54882	hgsc.bcm.edu	37	5	139864831	139864831	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:139864831A>G	ENST00000360839.2	+	12	2150	c.1996A>G	c.(1996-1998)Aag>Gag	p.K666E	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.K666E|ANKHD1_ENST00000297183.6_Missense_Mutation_p.K666E	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	666						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCGACTCAAGGTAGTCTA	0.502																																																0													72	63	66					5																	139864831		2203	4300	6503	SO:0001583	missense	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1996A>G	5.37:g.139864831A>G	ENSP00000354085:p.Lys666Glu		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	A	32	5.126260	0.94429	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.64803	0.09;0.09;-0.12;-0.12;0.09	5.29	5.29	0.74685	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.42686	1.345	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.997	D;D;D;D	0.81914	0.991;0.995;0.995;0.992	T	0.75199	-0.3402	10	0.62326	D	0.03	.	15.5234	0.75881	1.0:0.0:0.0:0.0	.	666;685;666;666	Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;ANKH1_HUMAN	E	666;699;666;666;200;146;685;72;666	ENSP00000354085:K666E;ENSP00000297183:K666E;ENSP00000394489:K685E;ENSP00000405602:K72E;ENSP00000432016:K666E	ENSP00000432016:K666E	K	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139845015	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.262000	0.95591	2.125000	0.65367	0.459000	0.35465	AAG		0.502	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		G	139864831	A	G	139864831	3	3	141	1	0	0	0	0	1	0	0	0	628	131	5	3	2148	3	ANKHD1	5	139864831	Missense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10	2376546	139864831	41050429	25	8408											
UIMC1	51720	hgsc.bcm.edu	37	5	176338345	176338345	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr5:176338345C>A	ENST00000377227.4	-	11	1775	c.1643G>T	c.(1642-1644)gGg>gTg	p.G548V	UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Missense_Mutation_p.G382V|UIMC1_ENST00000377219.2_Missense_Mutation_p.G549V|UIMC1_ENST00000511320.1_Missense_Mutation_p.G548V			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	548	Zinc-finger-like region.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGCTGTCCCACTGTCACT	0.388																																																0													172	157	162					5																	176338345		2203	4300	6503	SO:0001583	missense	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1643G>T	5.37:g.176338345C>A	ENSP00000366434:p.Gly548Val		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370664	0.42003	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000323774	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.31	4.44	0.53790	.	0.355531	0.26792	N	0.022472	T	0.12860	0.0312	L	0.33485	1.01	0.29960	N	0.819476	B;B;B	0.27498	0.145;0.18;0.105	B;B;B	0.25884	0.064;0.064;0.044	T	0.09143	-1.0688	10	0.31617	T	0.26	.	10.2781	0.43523	0.1526:0.7005:0.1469:0.0	.	548;178;470	Q96RL1;Q96RL1-4;Q96RL1-3	UIMC1_HUMAN;.;.	V	548;549;548;382;471;179	ENSP00000366434:G548V;ENSP00000366425:G549V;ENSP00000421926:G548V;ENSP00000427480:G382V	ENSP00000314909:G179V	G	-	2	0	UIMC1	176270951	0.000000	0.05858	0.790000	0.31976	0.921000	0.55340	0.386000	0.20702	1.221000	0.43506	0.650000	0.86243	GGG		0.388	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		A	176338345	C	A	176338345	3	1	141	1	0	0	0	0	1	0	0	0	16976	623	22	4	536	4	UIMC1	5	176338345	Missense_Mutation	SNP	C	TCGA-B0-4814-01A-01D-1361-10	36473514	176338345	4576915	26	8409											
SIRT5	23408	hgsc.bcm.edu	37	6	13601129	13601129	+	Missense_Mutation	SNP	G	G	A	rs146449652	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr6:13601129G>A	ENST00000606117.1	+	9	1101	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	SIRT5_ENST00000397350.2_Missense_Mutation_p.V161M|SIRT5_ENST00000359782.3_Missense_Mutation_p.V251M|SIRT5_ENST00000379262.4_Missense_Mutation_p.V269M	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGCCAGGGGCGTGCCAGTGGC	0.577													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18039	0.0		0.001	False		,,,				2504	0.0															0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	71	60	64		751,481,805,805	4.2	0.4	6	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	SIRT5	NM_001193267.2,NM_001242827.1,NM_012241.4,NM_031244.3	21,21,21,21	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	251/293,161/203,269/311,269/300	13601129	3,13003	2203	4300	6503	SO:0001583	missense	23408			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5", "sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.805G>A	6.37:g.13601129G>A	ENSP00000476228:p.Val269Met			Missense_Mutation	SNP	ENST00000606117.1	37	CCDS4526.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.32	3.805329	0.70682	2.27E-4	2.33E-4	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000397350;ENST00000379250	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.07	4.18	0.49190	.	0.060048	0.64402	D	0.000003	T	0.45115	0.1326	M	0.70108	2.13	0.58432	D	0.999999	D;D;D	0.62365	0.99;0.983;0.991	P;P;P	0.54401	0.751;0.568;0.616	T	0.49409	-0.8943	10	0.66056	D	0.02	-36.0998	11.9821	0.53125	0.1395:0.0:0.8605:0.0	.	251;269;269	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	M	251;269;161;269	ENSP00000352830:V251M;ENSP00000368564:V269M;ENSP00000380509:V161M;ENSP00000368552:V269M	ENSP00000352830:V251M	V	+	1	0	SIRT5	13709108	1.000000	0.71417	0.376000	0.26042	0.972000	0.66771	5.199000	0.65152	2.514000	0.84764	0.591000	0.81541	GTG		0.577	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			A	13601129	G	A	13601129	3	1	141	1	0	0	0	0	1	0	0	0	14347	1145	40	1	831	1	SIRT5	6	13601129	Missense_Mutation	SNP	G	TCGA-B0-4814-01A-01D-1361-10		13601129	157513938	27	8410											
THBS2	7058	hgsc.bcm.edu;ucsc.edu	37	6	169634863	169634863	+	Silent	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr6:169634863C>T	ENST00000366787.3	-	11	1866	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	539	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACATCTGACGCTCCTGCACAT	0.632																																					Esophageal Squamous(91;219 1934 18562 44706)											0													57	56	57					6																	169634863		2203	4300	6503	SO:0001819	synonymous_variant	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1617G>A	6.37:g.169634863C>T			A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.632	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		T	169634863	C	T	169634863	2	4	141	1	0	0	0	0	0	0	0	1	15859	796	28	2		2	THBS2	6	169634863	Silent	SNP	C	TCGA-B0-4814-01A-01D-1361-10	156033734	169634863	1480204	28	8411											
KCNU1	157855	hgsc.bcm.edu;ucsc.edu	37	8	36694387	36694387	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr8:36694387G>C	ENST00000399881.3	+	14	1479	c.1442G>C	c.(1441-1443)gGa>gCa	p.G481A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	481	RCK N-terminal.|Segment S7.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTAAAACTTGGATTTATCGCC	0.433																																																0													169	165	167					8																	36694387		1868	4115	5983	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1442G>C	8.37:g.36694387G>C	ENSP00000382770:p.Gly481Ala			Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660752	0.67700	.	.	ENSG00000215262	ENST00000399881	T	0.39229	1.09	5.34	5.34	0.76211	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.000000	0.37136	U	0.002227	T	0.68540	0.3012	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72497	-0.4275	10	0.87932	D	0	-4.0016	18.9859	0.92769	0.0:0.0:1.0:0.0	.	481	A8MYU2	KCNU1_HUMAN	A	481	ENSP00000382770:G481A	ENSP00000382770:G481A	G	+	2	0	KCNU1	36813545	1.000000	0.71417	0.984000	0.44739	0.197000	0.23852	9.234000	0.95347	2.657000	0.90304	0.585000	0.79938	GGA		0.433	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		C	36694387	G	C	36694387	3	2	141	1	0	0	0	0	1	0	0	0	8095	1174	41	4	1496	4	KCNU1	8	36694387	Missense_Mutation	SNP	G	TCGA-B0-4814-01A-01D-1361-10		36694387	109669635	29	8412											
FER1L6	654463	hgsc.bcm.edu	37	8	125015549	125015549	+	Silent	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr8:125015549C>T	ENST00000522917.1	+	13	1868	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	FER1L6_ENST00000399018.1_Silent_p.T554T|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	554						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGCCTCCACCACTCACCCGG	0.517																																																0													43	45	44					8																	125015549		1960	4145	6105	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1662C>T	8.37:g.125015549C>T				Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.517	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	125015549	C	T	125015549	2	4	141	1	0	0	0	0	0	0	0	1	5817	581	21	2		2	FER1L6	8	125015549	Silent	SNP	C	TCGA-B0-4814-01A-01D-1361-10	88321162	125015549	21348473	30	8413											
C9orf131	138724	hgsc.bcm.edu;ucsc.edu	37	9	35043871	35043871	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr9:35043871A>C	ENST00000312292.5	+	2	1292	c.1245A>C	c.(1243-1245)gaA>gaC	p.E415D	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.E342D|C9orf131_ENST00000421362.2_Missense_Mutation_p.E367D	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	415										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCCAGTGGGAATGCAGAGAAA	0.537																																																0													75	83	80					9																	35043871		2203	4300	6503	SO:0001583	missense	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1245A>C	9.37:g.35043871A>C	ENSP00000308279:p.Glu415Asp		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970334	0.34754	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.15372	2.43;2.43;2.43	4.89	1.08	0.20341	.	1.344200	0.04916	N	0.454189	T	0.14917	0.0360	L	0.55481	1.735	0.09310	N	1	B;B;B	0.31290	0.318;0.318;0.318	B;B;B	0.26416	0.069;0.069;0.069	T	0.31752	-0.9932	10	0.16420	T	0.52	0.6798	5.3514	0.16038	0.4742:0.3547:0.0:0.1712	.	415;342;367	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	D	367;342;415	ENSP00000393683:E367D;ENSP00000346472:E342D;ENSP00000308279:E415D	ENSP00000308279:E415D	E	+	3	2	C9orf131	35033871	0.000000	0.05858	0.002000	0.10522	0.593000	0.36681	0.934000	0.28910	0.854000	0.35336	0.533000	0.62120	GAA		0.537	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		C	35043871	A	C	35043871	3	2	141	1	0	0	0	0	1	0	0	0	2459	98	4	5	1267	5	C9orf131	9	35043871	Missense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10		35043871	106169560	31	8414											
VPS13A	23230	hgsc.bcm.edu	37	9	79910474	79910474	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr9:79910474T>A	ENST00000360280.3	+	33	3784	c.3524T>A	c.(3523-3525)tTt>tAt	p.F1175Y	VPS13A_ENST00000376634.4_Missense_Mutation_p.F1175Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.F1136Y|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.F1175Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1175					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATAGATAATTTTCAGGCAGCT	0.358																																																0													43	44	44					9																	79910474		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3524T>A	9.37:g.79910474T>A	ENSP00000353422:p.Phe1175Tyr		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.795262	0.90453	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.70749	0.03;-0.51;-0.09;0.02	5.5	5.5	0.81552	.	0.133960	0.52532	D	0.000080	D	0.84768	0.5545	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.993;0.999;0.999	D	0.87008	0.2121	10	0.87932	D	0	.	15.9147	0.79503	0.0:0.0:0.0:1.0	.	1136;1175;1175;1175	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	1175;1136;1175;1175	ENSP00000365821:F1175Y;ENSP00000365823:F1136Y;ENSP00000353422:F1175Y;ENSP00000349985:F1175Y	ENSP00000349985:F1175Y	F	+	2	0	VPS13A	79100294	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.543000	0.82106	2.227000	0.72691	0.460000	0.39030	TTT		0.358	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		A	79910474	T	A	79910474	3	1	141	1	0	0	0	0	1	0	0	0	17194	1841	64	5	3654	5	VPS13A	9	79910474	Missense_Mutation	SNP	T	TCGA-B0-4814-01A-01D-1361-10	44866603	79910474	61302957	32	8415											
ZCCHC6	79670	hgsc.bcm.edu;ucsc.edu	37	9	88903626	88903626	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr9:88903626T>C	ENST00000375963.3	-	27	4626	c.4454A>G	c.(4453-4455)aAa>aGa	p.K1485R	ZCCHC6_ENST00000375957.1_Missense_Mutation_p.K385R|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.K1447R|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.K774R|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.K1249R	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1485					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CGCTGAGGCTTTTCCCTGAGT	0.443																																																0													119	95	103					9																	88903626		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.4454A>G	9.37:g.88903626T>C	ENSP00000365130:p.Lys1485Arg		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.971712	0.34754	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T	0.56103	0.48;0.92;0.91;0.89	5.32	4.19	0.49359	.	0.176473	0.38837	N	0.001557	T	0.32466	0.0830	N	0.16478	0.41	0.29429	N	0.859991	B;B;B	0.27997	0.002;0.197;0.029	B;B;B	0.30716	0.003;0.119;0.013	T	0.24261	-1.0165	10	0.08381	T	0.77	-3.7492	10.1418	0.42740	0.0:0.0802:0.0:0.9198	.	1447;1249;1485	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	R	774;1249;1447;385;1485	ENSP00000277141:K774R;ENSP00000365127:K1249R;ENSP00000365128:K1447R;ENSP00000365130:K1485R	ENSP00000277141:K774R	K	-	2	0	ZCCHC6	88093446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.462000	0.45049	1.043000	0.40175	0.482000	0.46254	AAA		0.443	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		C	88903626	T	C	88903626	3	2	141	1	0	0	0	0	1	0	0	0	17597	1841	64	3	37	3	ZCCHC6	9	88903626	Missense_Mutation	SNP	T	TCGA-B0-4814-01A-01D-1361-10	8993152	88903626	52309805	33	8416											
PTCH1	5727	hgsc.bcm.edu	37	9	98240363	98240363	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr9:98240363G>T	ENST00000331920.6	-	9	1620	c.1321C>A	c.(1321-1323)Cgc>Agc	p.R441S	PTCH1_ENST00000375274.2_Missense_Mutation_p.R440S|PTCH1_ENST00000421141.1_Missense_Mutation_p.R290S|PTCH1_ENST00000437951.1_Missense_Mutation_p.R375S|PTCH1_ENST00000418258.1_Missense_Mutation_p.R290S|PTCH1_ENST00000430669.2_Missense_Mutation_p.R375S|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000429896.2_Missense_Mutation_p.R290S	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	441	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTGGCCACGCGGATGACACTG	0.517																																																0													185	148	160					9																	98240363		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1321C>A	9.37:g.98240363G>T	ENSP00000332353:p.Arg441Ser		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890865	0.72524	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.91521	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.86	5.63	5.63	0.86233	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.92925	0.7749	L	0.51914	1.62	0.58432	D	0.999998	D;P;D;P	0.89917	1.0;0.747;0.999;0.787	D;P;D;P	0.91635	0.999;0.493;0.989;0.627	D	0.90334	0.4354	10	0.22109	T	0.4	-12.5345	14.1182	0.65169	0.0:0.0:0.7281:0.2719	.	290;375;440;441	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	S	441;375;290;290;375;290;440;158	ENSP00000332353:R441S;ENSP00000389744:R375S;ENSP00000399981:R290S;ENSP00000396135:R290S;ENSP00000410287:R375S;ENSP00000414823:R290S;ENSP00000364423:R440S;ENSP00000364420:R158S	ENSP00000332353:R441S	R	-	1	0	PTCH1	97280184	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	2.831000	0.48144	2.669000	0.90835	0.655000	0.94253	CGC		0.517	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98240363	G	T	98240363	3	4	141	1	0	0	0	0	1	0	0	0	12735	1116	39	4	3082	4	PTCH1	9	98240363	Missense_Mutation	SNP	G	TCGA-B0-4814-01A-01D-1361-10	9336737	98240363	42973068	34	8417											
ASTN2	23245	hgsc.bcm.edu	37	9	119976858	119976858	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr9:119976858C>A	ENST00000313400.4	-	3	894	c.794G>T	c.(793-795)cGg>cTg	p.R265L	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R265L|ASTN2_ENST00000361209.2_Missense_Mutation_p.R265L			O75129	ASTN2_HUMAN	astrotactin 2	265					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.R265Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAAGCTCTCCCGCGCCTGGGG	0.597																																																1	Substitution - Missense(1)	ovary(1)											84	75	78					9																	119976858		2203	4300	6503	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.794G>T	9.37:g.119976858C>A	ENSP00000314038:p.Arg265Leu		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	16.81	3.226189	0.58668	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.24538	2.01;2.0;1.85	5.51	4.6	0.57074	.	0.081526	0.49305	D	0.000150	T	0.36248	0.0960	N	0.24115	0.695	0.48087	D	0.999581	D;B;D	0.76494	0.998;0.156;0.999	D;B;D	0.80764	0.994;0.024;0.97	T	0.10776	-1.0615	9	.	.	.	-19.6359	15.8965	0.79338	0.0:0.864:0.136:0.0	.	265;265;265	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	L	265	ENSP00000314038:R265L;ENSP00000363108:R265L;ENSP00000354504:R265L	.	R	-	2	0	ASTN2	119016679	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.867000	0.69597	1.298000	0.44778	0.655000	0.94253	CGG		0.597	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		A	119976858	C	A	119976858	3	1	141	1	0	0	0	0	1	0	0	0	1065	652	23	4	3384	4	ASTN2	9	119976858	Missense_Mutation	SNP	C	TCGA-B0-4814-01A-01D-1361-10	21736495	119976858	21236573	35	8418											
ZNF248	57209	hgsc.bcm.edu;ucsc.edu	37	10	38121983	38121983	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr10:38121983A>T	ENST00000395867.3	-	6	850	c.300T>A	c.(298-300)ttT>ttA	p.F100L	ZNF248_ENST00000374648.3_Missense_Mutation_p.F100L|ZNF248_ENST00000357328.4_Missense_Mutation_p.F100L|ZNF248_ENST00000494133.1_5'UTR|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GAAGCTCCCAAAAATGGTCAT	0.363																																																0													79	74	76					10																	38121983		2203	4300	6503	SO:0001583	missense	57209			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"Zinc fingers, C2H2-type", "-"	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.300T>A	10.37:g.38121983A>T	ENSP00000379208:p.Phe100Leu		Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	A	6.466	0.454175	0.12283	.	.	ENSG00000198105	ENST00000395867;ENST00000374648;ENST00000357328;ENST00000395873	T;T;T;T	0.03553	3.89;5.91;3.89;5.78	4.86	1.18	0.20946	.	0.000000	0.48767	D	0.000177	T	0.01092	0.0036	N	0.02225	-0.63	0.33510	D	0.590973	B;B	0.15930	0.005;0.015	B;B	0.09377	0.003;0.004	T	0.42120	-0.9470	10	0.05620	T	0.96	.	3.0372	0.06126	0.6263:0.0:0.1945:0.1792	.	100;100	Q8NDW4;Q8NDV8	ZN248_HUMAN;.	L	100	ENSP00000379208:F100L;ENSP00000363778:F100L;ENSP00000349882:F100L;ENSP00000379214:F100L	ENSP00000349882:F100L	F	-	3	2	ZNF248	38161989	0.011000	0.17503	1.000000	0.80357	0.567000	0.35839	0.942000	0.29017	0.398000	0.25338	0.460000	0.39030	TTT		0.363	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		T	38121983	A	T	38121983	3	4	141	1	0	0	0	0	1	0	0	0	17798	11	1	5	1443	5	ZNF248	10	38121983	Missense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10		38121983	97412764	36	8419											
TPP1	1200	hgsc.bcm.edu	37	11	6638044	6638044	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr11:6638044C>T	ENST00000299427.6	-	7	794	c.734G>A	c.(733-735)cGc>cAc	p.R245H	TPP1_ENST00000533371.1_Missense_Mutation_p.R2H|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	ACCGAAGAGGCGCATGAACTG	0.597																																																0													103	104	104					11																	6638044		2201	4296	6497	SO:0001583	missense	1200			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"TPP I"	607998	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.734G>A	11.37:g.6638044C>T	ENSP00000299427:p.Arg245His		Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804242	0.31869	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.99005	-5.32;-5.17	4.48	-2.76	0.05896	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.885835	0.09869	N	0.745169	D	0.96620	0.8897	L	0.52206	1.635	0.09310	N	1	B	0.15719	0.014	B	0.09377	0.004	D	0.92064	0.5659	10	0.46703	T	0.11	-4.2063	6.4955	0.22140	0.1218:0.3384:0.0:0.5397	.	245	O14773	TPP1_HUMAN	H	245;2	ENSP00000299427:R245H;ENSP00000437066:R2H	ENSP00000299427:R245H	R	-	2	0	TPP1	6594620	0.000000	0.05858	0.991000	0.47740	0.974000	0.67602	-2.281000	0.01157	-0.422000	0.07405	0.455000	0.32223	CGC		0.597	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2			T	6638044	C	T	6638044	3	4	141	1	0	0	0	0	1	0	0	0	16416	768	27	1	985	1	TPP1	11	6638044	Missense_Mutation	SNP	C	TCGA-B0-4814-01A-01D-1361-10		6638044	128368472	37	8420											
ABTB2	25841	hgsc.bcm.edu	37	11	34175904	34175904	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr11:34175904A>T	ENST00000435224.2	-	16	3212	c.2788T>A	c.(2788-2790)Ttc>Atc	p.F930I	ABTB2_ENST00000298992.2_Missense_Mutation_p.F744I	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	930					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCCAGCTGGAACAGGCTGGCA	0.612																																																0													65	54	57					11																	34175904		2202	4298	6500	SO:0001583	missense	25841			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2788T>A	11.37:g.34175904A>T	ENSP00000410157:p.Phe930Ile		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	A	29.7	5.028224	0.93518	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.69806	-0.43;-0.43	4.83	4.83	0.62350	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.80874	0.4707	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.83946	0.0314	10	0.87932	D	0	-2.0694	14.397	0.67018	1.0:0.0:0.0:0.0	.	744	Q8N961	ABTB2_HUMAN	I	930;744	ENSP00000410157:F930I;ENSP00000298992:F744I	ENSP00000298992:F744I	F	-	1	0	ABTB2	34132480	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	9.339000	0.96797	1.805000	0.52779	0.260000	0.18958	TTC		0.612	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		T	34175904	A	T	34175904	3	4	141	1	0	0	0	0	1	0	0	0	103	43	2	5	297	5	ABTB2	11	34175904	Missense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10	27537860	34175904	100830612	38	8421											
COMMD9	29099	hgsc.bcm.edu;ucsc.edu	37	11	36298648	36298648	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr11:36298648C>A	ENST00000263401.5	-	4	359	c.343G>T	c.(343-345)Gca>Tca	p.A115S	COMMD9_ENST00000533308.1_5'Flank|COMMD9_ENST00000532705.1_Intron|COMMD9_ENST00000452374.2_Missense_Mutation_p.A73S	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	115										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CTCTGATTTGCCTGGGCTTCG	0.473																																																0													152	141	145					11																	36298648		2202	4298	6500	SO:0001583	missense	29099			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.343G>T	11.37:g.36298648C>A	ENSP00000263401:p.Ala115Ser		E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	CCDS7900.1	.	.	.	.	.	.	.	.	.	.	C	2.209	-0.381152	0.05000	.	.	ENSG00000110442	ENST00000263401;ENST00000537683;ENST00000452374	T;T	0.09350	2.99;2.99	5.48	2.59	0.31030	.	0.474096	0.24417	N	0.038718	T	0.06781	0.0173	L	0.33485	1.01	0.09310	N	0.999999	B;B;B	0.17268	0.006;0.006;0.021	B;B;B	0.18871	0.023;0.011;0.019	T	0.41752	-0.9491	10	0.08381	T	0.77	-18.2858	7.3153	0.26498	0.0:0.6462:0.0:0.3538	.	115;73;115	B4DIH0;Q9P000-2;Q9P000	.;.;COMD9_HUMAN	S	115;115;73	ENSP00000263401:A115S;ENSP00000392510:A73S	ENSP00000263401:A115S	A	-	1	0	COMMD9	36255224	0.000000	0.05858	0.961000	0.40146	0.683000	0.39861	0.101000	0.15251	0.800000	0.34041	0.563000	0.77884	GCA		0.473	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186		A	36298648	C	A	36298648	3	1	141	1	0	0	0	0	1	0	0	0	3725	739	26	4	265	4	COMMD9	11	36298648	Missense_Mutation	SNP	C	TCGA-B0-4814-01A-01D-1361-10	2122744	36298648	98707868	39	8422											
NOX4	50507	hgsc.bcm.edu	37	11	89088168	89088168	+	Silent	SNP	G	G	A	rs75735530	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr11:89088168G>A	ENST00000263317.4	-	13	1417	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	NOX4_ENST00000535633.1_Silent_p.S369S|NOX4_ENST00000527626.1_Silent_p.S227S|NOX4_ENST00000531342.1_Silent_p.S86S|NOX4_ENST00000424319.1_Silent_p.S369S|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Silent_p.S368S|NOX4_ENST00000534731.1_Silent_p.S393S|NOX4_ENST00000413594.2_Silent_p.S414S|NOX4_ENST00000343727.5_Silent_p.S369S|NOX4_ENST00000375979.3_Silent_p.S86S|NOX4_ENST00000532825.1_Silent_p.S369S|NOX4_ENST00000542487.1_Silent_p.S369S|NOX4_ENST00000527956.1_Silent_p.S369S			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	393	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GCAGAATTTCGGAGTCTTGAC	0.373													G|||	433	0.0864617	0.0023	0.1686	5008	,	,		15054	0.0883		0.0815	False		,,,				2504	0.1452															0								G	,,	70,4332	61.1+/-98.1	1,68,2132	52	52	52		1179,1107,1179	-4.4	1	11	dbSNP_131	52	637,7953	159.7+/-212.9	25,587,3683	no	coding-synonymous,coding-synonymous,coding-synonymous	NOX4	NM_001143836.1,NM_001143837.1,NM_016931.3	,,	26,655,5815	AA,AG,GG		7.4156,1.5902,5.4418	,,	393/539,369/555,393/579	89088168	707,12285	2201	4295	6496	SO:0001819	synonymous_variant	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1179C>T	11.37:g.89088168G>A			A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	CCDS8285.1																																																																																				0.373	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		A	89088168	G	A	89088168	2	1	141	1	0	0	0	0	0	0	0	1	10560	1103	39	1		1	NOX4	11	89088168	Silent	SNP	G	TCGA-B0-4814-01A-01D-1361-10	52789520	89088168	45918348	40	8423											
ITGB7	3695	hgsc.bcm.edu	37	12	53591327	53591327	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr12:53591327C>G	ENST00000267082.5	-	5	755	c.524G>C	c.(523-525)gGg>gCg	p.G175A	ITGB7_ENST00000422257.3_Missense_Mutation_p.G175A|ITGB7_ENST00000338737.4_Missense_Mutation_p.G175A|ITGB7_ENST00000550743.2_Missense_Mutation_p.G175A	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	175	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.G175A(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGAGCGTGCCCGAGCTGGCG	0.617																																																1	Substitution - Missense(1)	large_intestine(1)											79	70	73					12																	53591327		2203	4300	6503	SO:0001583	missense	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.524G>C	12.37:g.53591327C>G	ENSP00000267082:p.Gly175Ala		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310534	0.95629	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	4.91	4.91	0.64330	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.35436	N	0.003220	D	0.97256	0.9103	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.967;0.999	D	0.97787	1.0236	10	0.66056	D	0.02	.	17.3056	0.87194	0.0:1.0:0.0:0.0	.	175;175	B7Z769;P26010	.;ITB7_HUMAN	A	175	ENSP00000408741:G175A;ENSP00000267082:G175A;ENSP00000345501:G175A;ENSP00000437375:G175A	ENSP00000267082:G175A	G	-	2	0	ITGB7	51877594	1.000000	0.71417	0.816000	0.32577	0.995000	0.86356	7.598000	0.82745	2.459000	0.83118	0.555000	0.69702	GGG		0.617	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			G	53591327	C	G	53591327	3	3	141	1	0	0	0	0	1	0	0	0	7902	623	22	4	1920	4	ITGB7	12	53591327	Missense_Mutation	SNP	C	TCGA-B0-4814-01A-01D-1361-10		53591327	80260568	41	8424											
NR2C1	7181	hgsc.bcm.edu;ucsc.edu	37	12	95452258	95452258	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr12:95452258A>T	ENST00000333003.5	-	5	702	c.372T>A	c.(370-372)caT>caA	p.H124Q	NR2C1_ENST00000330677.7_Missense_Mutation_p.H124Q|NR2C1_ENST00000393101.3_Missense_Mutation_p.H124Q|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	124	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGCTCCATAATGACGTCCTA	0.303																																																0													54	56	55					12																	95452258		2203	4300	6503	SO:0001583	missense	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.372T>A	12.37:g.95452258A>T	ENSP00000333275:p.His124Gln		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.472427	0.63737	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.98889	-5.21;-5.21;-5.21	5.46	4.32	0.51571	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.99391	4.545	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.989;0.999;0.994	D	0.97909	1.0307	10	0.87932	D	0	.	9.794	0.40724	0.8564:0.0:0.1436:0.0	.	124;124;124;124	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	Q	124	ENSP00000333275:H124Q;ENSP00000376813:H124Q;ENSP00000328843:H124Q	ENSP00000328843:H124Q	H	-	3	2	NR2C1	93976389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.365000	0.34182	0.920000	0.36970	0.454000	0.30748	CAT		0.303	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		T	95452258	A	T	95452258	3	4	141	1	0	0	0	0	1	0	0	0	10624	98	4	5	1557	5	NR2C1	12	95452258	Missense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10	41860931	95452258	38399637	42	8425											
OAS1	4938	hgsc.bcm.edu;ucsc.edu	37	12	113348901	113348901	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr12:113348901A>G	ENST00000202917.5	+	3	778	c.515A>G	c.(514-516)aAg>aGg	p.K172R	OAS1_ENST00000551241.1_Missense_Mutation_p.K172R|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.K172R|OAS1_ENST00000452357.2_Missense_Mutation_p.K172R	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	172					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ATCTATGTCAAGCTCATCGAG	0.512																																																0													94	82	86					12																	113348901		2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.515A>G	12.37:g.113348901A>G	ENSP00000202917:p.Lys172Arg		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.686|4.686	0.127551|0.127551	0.08981|0.08981	.|.	.|.	ENSG00000089127|ENSG00000089127	ENST00000549820|ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689	.|T;T;T;T;T	.|0.08984	.|3.03;3.03;3.03;3.03;3.03	4.31|4.31	-3.05|-3.05	0.05396|0.05396	.|-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.|3.318120	.|0.00953	.|N	.|0.002989	.|T	.|0.05044	.|0.0135	N|N	0.16602|0.16602	0.42|0.42	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.001;0.0	.|B;B;B;B;B	.|0.09377	.|0.001;0.004;0.001;0.003;0.001	.|T	.|0.34428	.|-0.9829	.|10	.|0.16420	.|T	.|0.52	.|1.2721	5.031|5.031	0.14409|0.14409	0.3557:0.0:0.4749:0.1694|0.3557:0.0:0.4749:0.1694	.|.	.|172;172;172;172;172	.|E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.|.;.;OAS1_HUMAN;.;.	.|R	-1|172;172;172;172;172;168	.|ENSP00000202917:K172R;ENSP00000388001:K172R;ENSP00000415721:K172R;ENSP00000448790:K172R;ENSP00000448348:K168R	.|ENSP00000202917:K172R	.|K	+|+	.|2	.|0	OAS1|OAS1	111833284|111833284	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.056000|0.056000	0.15407|0.15407	-0.900000|-0.900000	0.04097|0.04097	-0.678000|-0.678000	0.05224|0.05224	0.459000|0.459000	0.35465|0.35465	.|AAG		0.512	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			G	113348901	A	G	113348901	3	3	141	1	0	0	0	0	1	0	0	0	10801	72	3	3	525	3	OAS1	12	113348901	Missense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10	17896643	113348901	20502994	43	8426											
EAPP	55837	hgsc.bcm.edu;ucsc.edu	37	14	34985595	34985595	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr14:34985595G>C	ENST00000250454.3	-	6	860	c.779C>G	c.(778-780)aCt>aGt	p.T260S		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	260					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GGAACATTCAGTGCACATGAC	0.443																																																0													216	209	211					14																	34985595		1988	4159	6147	SO:0001583	missense	55837			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"chromosome 14 open reading frame 11"	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.779C>G	14.37:g.34985595G>C	ENSP00000250454:p.Thr260Ser		Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698194	0.30142	.	.	ENSG00000129518	ENST00000250454	T	0.39056	1.1	5.44	5.44	0.79542	.	0.249977	0.45867	D	0.000339	T	0.27134	0.0665	N	0.20766	0.605	0.45284	D	0.998284	B	0.23854	0.092	B	0.23716	0.048	T	0.07309	-1.0779	10	0.08381	T	0.77	-1.5813	14.4857	0.67616	0.0:0.0:0.8531:0.1469	.	260	Q56P03	EAPP_HUMAN	S	260	ENSP00000250454:T260S	ENSP00000250454:T260S	T	-	2	0	EAPP	34055346	1.000000	0.71417	0.867000	0.34043	0.922000	0.55478	5.511000	0.67024	2.720000	0.93068	0.650000	0.86243	ACT		0.443	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		C	34985595	G	C	34985595	3	2	141	1	0	0	0	0	1	0	0	0	4879	1029	36	4	82	4	EAPP	14	34985595	Missense_Mutation	SNP	G	TCGA-B0-4814-01A-01D-1361-10		34985595	72363945	44	8427											
UNC13C	440279	hgsc.bcm.edu	37	15	54435838	54435838	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr15:54435838G>T	ENST00000260323.11	+	3	3028	c.3028G>T	c.(3028-3030)Gat>Tat	p.D1010Y	UNC13C_ENST00000545554.1_Missense_Mutation_p.D1010Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1010Y	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1010					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGTGGCAATGATTTGGATGC	0.388																																																0													148	139	142					15																	54435838		1885	4124	6009	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3028G>T	15.37:g.54435838G>T	ENSP00000260323:p.Asp1010Tyr		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219309	0.22373	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79845	-1.31;-1.29;-1.31	5.57	5.57	0.84162	.	.	.	.	.	T	0.70290	0.3207	N	0.19112	0.55	0.09310	N	1	P	0.34462	0.454	B	0.34722	0.188	T	0.66180	-0.5988	9	0.72032	D	0.01	.	12.2205	0.54431	0.0:0.0:0.7309:0.2691	.	1010	Q8NB66	UN13C_HUMAN	Y	1010	ENSP00000260323:D1010Y;ENSP00000438156:D1010Y;ENSP00000442569:D1010Y	ENSP00000260323:D1010Y	D	+	1	0	UNC13C	52223130	0.983000	0.35010	0.494000	0.27515	0.748000	0.42578	2.677000	0.46892	2.636000	0.89361	0.484000	0.47621	GAT		0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		T	54435838	G	T	54435838	3	4	141	1	0	0	0	0	1	0	0	0	16991	1290	45	4	3038	4	UNC13C	15	54435838	Missense_Mutation	SNP	G	TCGA-B0-4814-01A-01D-1361-10		54435838	48095554	45	8428											
ACAN	176	hgsc.bcm.edu	37	15	89398671	89398671	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr15:89398671G>A	ENST00000561243.1	+	11	2855	c.2855G>A	c.(2854-2856)gGg>gAg	p.G952E	ACAN_ENST00000352105.7_Missense_Mutation_p.G952E|ACAN_ENST00000559004.1_Missense_Mutation_p.G952E|ACAN_ENST00000439576.2_Missense_Mutation_p.G952E			P16112	PGCA_HUMAN	aggrecan	951	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCTGGAGTTGGGGATCTCAGT	0.552																																																0													77	82	81					15																	89398671		1859	4111	5970	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2855G>A	15.37:g.89398671G>A	ENSP00000453342:p.Gly952Glu		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.225151	0.01530	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.92699	-3.09;-3.09	4.49	-4.63	0.03359	.	.	.	.	.	T	0.67795	0.2931	N	0.01242	-0.935	0.09310	N	1	P;P	0.42827	0.791;0.791	B;B	0.40702	0.338;0.338	T	0.71925	-0.4445	9	0.02654	T	1	-0.1837	1.5117	0.02497	0.4953:0.1204:0.1943:0.1901	.	952;952	E7ENV9;E7EX88	.;.	E	952	ENSP00000387356:G952E;ENSP00000341615:G952E	ENSP00000268134:G952E	G	+	2	0	ACAN	87199675	0.000000	0.05858	0.021000	0.16686	0.161000	0.22273	-1.334000	0.02665	-0.378000	0.07918	-0.253000	0.11424	GGG		0.552	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89398671	G	A	89398671	3	1	141	1	0	0	0	0	1	0	0	0	117	1232	43	2	2897	2	ACAN	15	89398671	Missense_Mutation	SNP	G	TCGA-B0-4814-01A-01D-1361-10	34962833	89398671	13132721	46	8429											
BTBD12	84464	hgsc.bcm.edu;ucsc.edu	37	16	3652234	3652234	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr16:3652234C>T	ENST00000294008.3	-	4	1475	c.835G>A	c.(835-837)Gta>Ata	p.V279I		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	279	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GATGCTCCTACCCGTGCAAAC	0.567								Direct reversal of damage																																								0													125	111	116					16																	3652234		2197	4300	6497	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.835G>A	16.37:g.3652234C>T	ENSP00000294008:p.Val279Ile		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	10.35	1.327083	0.24080	.	.	ENSG00000188827	ENST00000294008	T	0.01113	5.32	5.83	3.85	0.44370	.	0.359775	0.30593	N	0.009291	T	0.01124	0.0037	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.47315	-0.9127	10	0.66056	D	0.02	.	9.135	0.36868	0.0:0.6478:0.2779:0.0743	.	279	Q8IY92	SLX4_HUMAN	I	279	ENSP00000294008:V279I	ENSP00000294008:V279I	V	-	1	0	SLX4	3592235	0.943000	0.32029	0.020000	0.16555	0.062000	0.15995	2.625000	0.46452	0.795000	0.33922	-0.136000	0.14681	GTA		0.567	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		T	3652234	C	T	3652234	3	4	141	1	0	0	0	0	1	0	0	0	1542	507	18	2	4717	2	BTBD12	16	3652234	Missense_Mutation	SNP	C	TCGA-B0-4814-01A-01D-1361-10		3652234	86702519	47	8430											
ERCC4	2072	hgsc.bcm.edu	37	16	14015889	14015889	+	Splice_Site	SNP	A	A	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr16:14015889A>G	ENST00000311895.7	+	2	218	c.209A>G	c.(208-210)gAg>gGg	p.E70G	ERCC4_ENST00000575156.1_Splice_Site_p.E70G	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	70	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTGATTTAGGAGTATTTTATC	0.348			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0													56	52	53					16																	14015889		2197	4300	6497	SO:0001630	splice_region_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.208-1A>G	16.37:g.14015889A>G			A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769381	0.90020	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.57595	0.39	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	L	0.55103	1.725	0.80722	D	1	D;D	0.76494	0.999;0.983	D;D	0.72982	0.979;0.914	T	0.69250	-0.5194	10	0.56958	D	0.05	-29.641	14.4856	0.67614	1.0:0.0:0.0:0.0	.	70;70	A5PKV6;Q92889	.;XPF_HUMAN	G	70;59;59	ENSP00000310520:E70G	ENSP00000310520:E70G	E	+	2	0	ERCC4	13923390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.907000	0.92634	2.000000	0.58554	0.533000	0.62120	GAG		0.348	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	Missense_Mutation	G	14015889	A	G	14015889	5	3	141	1	0	0	0	0	0	0	1	0	5217	318	11	3	215	3	ERCC4	16	14015889	Splice_Site	SNP	A	TCGA-B0-4814-01A-01D-1361-10	10363655	14015889	76338864	48	8431											
WWP2	11060	hgsc.bcm.edu	37	16	69964089	69964089	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr16:69964089G>C	ENST00000359154.2	+	13	1474	c.1373G>C	c.(1372-1374)gGg>gCg	p.G458A	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.G458A|WWP2_ENST00000356003.2_Missense_Mutation_p.G458A|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000568684.1_Missense_Mutation_p.G19A|WWP2_ENST00000542271.1_Missense_Mutation_p.G342A	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	458	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAGCGAGGGGGTGCGATAC	0.572											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													70	68	69					16																	69964089		2198	4300	6498	SO:0001583	missense	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1373G>C	16.37:g.69964089G>C	ENSP00000352069:p.Gly458Ala	1118	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495510	0.85069	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	5.52	5.52	0.82312	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.98194	0.9403	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99063	1.0831	9	.	.	.	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	458	O00308	WWP2_HUMAN	A	458;19;458;458;345;342	ENSP00000352069:G458A;ENSP00000396871:G458A;ENSP00000348283:G458A;ENSP00000445616:G342A	.	G	+	2	0	WWP2	68521590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.597000	0.87782	0.655000	0.94253	GGG		0.572	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		C	69964089	G	C	69964089	3	2	141	1	0	0	0	0	1	0	0	0	17421	1232	43	4	1423	4	WWP2	16	69964089	Missense_Mutation	SNP	G	TCGA-B0-4814-01A-01D-1361-10	55948200	69964089	20390664	49	8432											
CCDC144B	348254	hgsc.bcm.edu;ucsc.edu	37	17	18486814	18486815	+	IGR	INS	-	-	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:18486814_18486815insT								CTD-2303H24.2 (41580 upstream) : CCDC144B (4777 downstream)																							TTCTTTTCTCCCATTTTCTTGT	0.317																																																0																																										SO:0001628	intergenic_variant	284047																															17.37:g.18486814_18486815insT				Frame_Shift_Ins	INS		37																																																																																				0	0.317									T	18486815	-	T	18486814	6	5	141	0	1	1	1	0	0	0	0	0	2780	623	22	0		0	CCDC144B	17	18486814	IGR	INS	-	TCGA-B0-4814-01A-01D-1361-10		18486814	62708396	50	8433											
FAM18B	51030	hgsc.bcm.edu	37	17	18694277	18694277	+	Missense_Mutation	SNP	G	G	A	rs61075345	byFrequency	TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:18694277G>A	ENST00000307767.8	+	3	463	c.164G>A	c.(163-165)gGg>gAg	p.G55E	TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Missense_Mutation_p.G55E	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	55			G -> E (in dbSNP:rs61075345). {ECO:0000269|PubMed:10810093, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.2}.			integral component of membrane (GO:0016021)											CTTCTCTGTGGGTTGCTCAGC	0.373													N|||	4222	0.843051	0.8744	0.8516	5008	,	,		14722	0.8948		0.8519	False		,,,				2504	0.7321															0								A	GLU/GLY	3642,764		1644,354,205	166	169	168		164	3.8	1	17	dbSNP_129	168	6975,1625		3019,937,344	no	missense	FAM18B1	NM_016078.4	98	4663,1291,549	AA,AG,GG		18.8953,17.34,18.3684	benign	55/206	18694277	10617,2389	2203	4300	6503	SO:0001583	missense	0			AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B", "family with sequence similarity 18, member B1"	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.164G>A	17.37:g.18694277G>A	ENSP00000305654:p.Gly55Glu		A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	ENST00000307767.8	37	CCDS42274.1	1773	0.8118131868131868	380	0.7723577235772358	296	0.8176795580110497	484	0.8461538461538461	613	0.8087071240105541	A	0.007	-1.936877	0.00484	0.8266	0.811047	ENSG00000171928	ENST00000307767	T	0.41758	0.99	3.76	3.76	0.43208	.	0.228704	0.44902	N	0.000404	T	0.00012	0.0000	N	0.03948	-0.315	0.09310	P	1.0	B	0.02656	0.0	B	0.06405	0.002	T	0.40001	-0.9586	9	0.05721	T	0.95	-2.6581	5.3949	0.16263	0.7633:0.0:0.2367:0.0	rs61075345;rs62075103	55	Q9NYZ1	F18B1_HUMAN	E	55	ENSP00000305654:G55E	ENSP00000305654:G55E	G	+	2	0	FAM18B1	18635002	1.000000	0.71417	0.997000	0.53966	0.153000	0.21895	3.641000	0.54360	0.496000	0.27904	-0.966000	0.02617	GGG		0.373	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		A	18694277	G	A	18694277	3	1	141	1	0	0	0	0	1	0	0	0	5521	1232	43	2	174	2	FAM18B	17	18694277	Missense_Mutation	SNP	G	TCGA-B0-4814-01A-01D-1361-10	207463	18694277	62500933	51	8434											
EFCAB3	146779	hgsc.bcm.edu;ucsc.edu	37	17	60484560	60484560	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:60484560A>G	ENST00000305286.3	+	8	932	c.854A>G	c.(853-855)gAc>gGc	p.D285G	EFCAB3_ENST00000450662.2_Missense_Mutation_p.D337G	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	285							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CATAAAAGAGACTGGAAAACA	0.328																																																0													60	63	62					17																	60484560		2203	4300	6503	SO:0001583	missense	146779			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.854A>G	17.37:g.60484560A>G	ENSP00000302649:p.Asp285Gly		J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809348	0.70797	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.60797	0.16;0.2	5.91	5.91	0.95273	.	0.195674	0.36034	N	0.002829	T	0.56702	0.2003	M	0.62723	1.935	0.39499	D	0.96816	P	0.46987	0.888	B	0.42163	0.378	T	0.63726	-0.6572	10	0.52906	T	0.07	.	12.735	0.57218	1.0:0.0:0.0:0.0	.	285	Q8N7B9	EFCB3_HUMAN	G	337;285	ENSP00000403932:D337G;ENSP00000302649:D285G	ENSP00000302649:D285G	D	+	2	0	EFCAB3	57838292	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.855000	0.62925	2.263000	0.75096	0.377000	0.23210	GAC		0.328	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		G	60484560	A	G	60484560	3	3	141	1	0	0	0	0	1	0	0	0	4937	275	10	3	1048	3	EFCAB3	17	60484560	Missense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10	41790283	60484560	20710650	52	8435											
SDK2	54549	hgsc.bcm.edu	37	17	71361527	71361527	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:71361527G>T	ENST00000392650.3	-	38	5175	c.5175C>A	c.(5173-5175)agC>agA	p.S1725R	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S1706R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1725					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGCTGGGAGCGCTGGGGGCTG	0.577																																																0													28	25	26					17																	71361527		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5175C>A	17.37:g.71361527G>T	ENSP00000376421:p.Ser1725Arg		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235611	0.58886	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.58210	0.35;0.35;0.35	4.95	-7.97	0.01139	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.044941	0.85682	D	0.000000	T	0.70395	0.3219	M	0.88704	2.975	0.41118	D	0.985795	D;D;D	0.76494	0.999;0.994;0.992	D;D;D	0.78314	0.991;0.972;0.952	T	0.80634	-0.1295	10	0.72032	D	0.01	.	16.3939	0.83550	0.6679:0.0:0.3321:0.0	.	1725;1725;1706	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	R	1349;1725;1706;882;1725;66	ENSP00000376421:S1725R;ENSP00000373378:S1706R;ENSP00000407098:S882R	ENSP00000324967:S1725R	S	-	3	2	SDK2	68873122	0.000000	0.05858	0.372000	0.25991	0.854000	0.48673	-2.295000	0.01143	-1.644000	0.01517	-0.742000	0.03525	AGC		0.577	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		T	71361527	G	T	71361527	3	4	141	1	0	0	0	0	1	0	0	0	13975	1078	38	4	1375	4	SDK2	17	71361527	Missense_Mutation	SNP	G	TCGA-B0-4814-01A-01D-1361-10	10876967	71361527	9833683	53	8436											
TTYH2	94015	hgsc.bcm.edu;ucsc.edu	37	17	72256287	72256287	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr17:72256287C>T	ENST00000269346.4	+	14	1618	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	CTD-2514K5.4_ENST00000583018.1_RNA|TTYH2_ENST00000441391.2_Missense_Mutation_p.A194V|TTYH2_ENST00000529107.1_Missense_Mutation_p.A494V	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	515						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						AGCATGAGAGCCACCTACCTG	0.567																																																0													171	156	161					17																	72256287		2203	4300	6503	SO:0001583	missense	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1544C>T	17.37:g.72256287C>T	ENSP00000269346:p.Ala515Val		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081015	0.76528	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.54279	0.58;0.58;0.58	4.55	4.55	0.56014	.	0.060960	0.64402	D	0.000005	T	0.51958	0.1705	M	0.66939	2.045	0.48135	D	0.999597	P;P	0.45348	0.704;0.856	B;B	0.38803	0.175;0.282	T	0.63497	-0.6624	10	0.72032	D	0.01	-20.6877	16.2542	0.82503	0.0:1.0:0.0:0.0	.	494;515	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	V	515;494;194	ENSP00000269346:A515V;ENSP00000433089:A494V;ENSP00000394576:A194V	ENSP00000269346:A515V	A	+	2	0	TTYH2	69767882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.055000	0.76656	2.364000	0.80123	0.650000	0.86243	GCC		0.567	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			T	72256287	C	T	72256287	3	4	141	1	0	0	0	0	1	0	0	0	16745	739	26	2	1598	2	TTYH2	17	72256287	Missense_Mutation	SNP	C	TCGA-B0-4814-01A-01D-1361-10	894760	72256287	8938923	54	8437											
CELF4	56853	hgsc.bcm.edu	37	18	35145518	35145518	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr18:35145518A>T	ENST00000591282.1	-	1	86	c.87T>A	c.(85-87)agT>agA	p.S29R	CELF4_ENST00000603232.1_Missense_Mutation_p.S29R|CELF4_ENST00000601019.1_Missense_Mutation_p.S29R|CELF4_ENST00000412753.1_Missense_Mutation_p.S29R|CELF4_ENST00000588597.1_Missense_Mutation_p.S29R|CELF4_ENST00000361795.5_Missense_Mutation_p.S29R|CELF4_ENST00000591287.1_Missense_Mutation_p.S29R|CELF4_ENST00000420428.2_Missense_Mutation_p.S29R|CELF4_ENST00000334919.5_Missense_Mutation_p.S29R			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	29	Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGTGCCCGGCACTGCCCGGGC	0.562																																																0													57	54	55					18																	35145518		2203	4300	6503	SO:0001583	missense	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.87T>A	18.37:g.35145518A>T	ENSP00000464794:p.Ser29Arg		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257391	0.39896	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T;T	0.74632	-0.8;-0.79;-0.78;-0.86	5.13	3.22	0.36961	.	0.136527	0.44483	D	0.000460	T	0.56077	0.1961	N	0.22421	0.69	0.29827	N	0.83037	B;B;B;B;B	0.33477	0.027;0.0;0.413;0.0;0.034	B;B;B;B;B	0.26416	0.01;0.0;0.069;0.001;0.031	T	0.60234	-0.7303	10	0.72032	D	0.01	-9.8614	9.1865	0.37174	0.0826:0.145:0.7724:0.0	.	29;29;29;29;29	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	R	29	ENSP00000355089:S29R;ENSP00000406823:S29R;ENSP00000410584:S29R;ENSP00000335631:S29R	ENSP00000335631:S29R	S	-	3	2	CELF4	33399516	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.387000	0.52501	1.268000	0.44264	-0.248000	0.11899	AGT		0.562	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		T	35145518	A	T	35145518	3	4	141	1	0	0	0	0	1	0	0	0	3220	156	6	5	1421	5	CELF4	18	35145518	Missense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10		35145518	42931730	55	8438											
DCC	1630	hgsc.bcm.edu;ucsc.edu	37	18	50918089	50918089	+	Silent	SNP	C	C	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr18:50918089C>G	ENST00000442544.2	+	17	3136	c.2520C>G	c.(2518-2520)ctC>ctG	p.L840L	DCC_ENST00000581580.1_Silent_p.L475L|DCC_ENST00000412726.1_Silent_p.L668L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	840					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCCAGATCTCTCCACCCCCA	0.493																																																0													133	125	127					18																	50918089		2203	4300	6503	SO:0001819	synonymous_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2520C>G	18.37:g.50918089C>G				Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																				0.493	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		G	50918089	C	G	50918089	2	3	141	1	0	0	0	0	0	0	0	1	4284	900	32	4		4	DCC	18	50918089	Silent	SNP	C	TCGA-B0-4814-01A-01D-1361-10	15772571	50918089	27159159	56	8439											
RANBP3	8498	hgsc.bcm.edu	37	19	5923257	5923257	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr19:5923257A>C	ENST00000340578.6	-	13	1214	c.1157T>G	c.(1156-1158)tTg>tGg	p.L386W	RANBP3_ENST00000034275.8_Missense_Mutation_p.L318W|RANBP3_ENST00000541471.1_Missense_Mutation_p.L258W|RANBP3_ENST00000439268.2_Missense_Mutation_p.L381W|RANBP3_ENST00000591092.1_Missense_Mutation_p.L313W	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	386	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CACTTTTTCCAACAAACACTT	0.567																																																0													118	122	121					19																	5923257		1966	4154	6120	SO:0001583	missense	8498			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1157T>G	19.37:g.5923257A>C	ENSP00000341483:p.Leu386Trp		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650326	0.87958	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.41400	1.02;1.01;1.76;1.0	5.59	5.59	0.84812	Pleckstrin homology-type (1);Ran binding protein 1 (2);	0.000000	0.64402	D	0.000001	T	0.72890	0.3517	H	0.94306	3.52	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;1.0;1.0;1.0;1.0;1.0	T	0.79325	-0.1850	10	0.46703	T	0.11	-12.854	13.7176	0.62708	1.0:0.0:0.0:0.0	.	258;381;258;313;318;381;386	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	W	386;381;318;317;258	ENSP00000341483:L386W;ENSP00000404837:L381W;ENSP00000034275:L318W;ENSP00000445071:L258W	ENSP00000034275:L318W	L	-	2	0	RANBP3	5874257	1.000000	0.71417	0.471000	0.27229	0.982000	0.71751	8.850000	0.92190	2.133000	0.65898	0.379000	0.24179	TTG		0.567	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		C	5923257	A	C	5923257	3	2	141	1	0	0	0	0	1	0	0	0	13035	131	5	5	566	5	RANBP3	19	5923257	Missense_Mutation	SNP	A	TCGA-B0-4814-01A-01D-1361-10		5923257	53205726	57	8440											
ILVBL	10994	hgsc.bcm.edu	37	19	15228699	15228699	+	Silent	SNP	A	A	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr19:15228699A>T	ENST00000263383.3	-	10	1318	c.1179T>A	c.(1177-1179)gcT>gcA	p.A393A	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Silent_p.A286A	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	393						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.A393A(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCCTGCACAGCCTCCTGGG	0.557																																																1	Substitution - coding silent(1)	ovary(1)											89	83	85					19																	15228699		2203	4300	6503	SO:0001819	synonymous_variant	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1179T>A	19.37:g.15228699A>T			O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	37	CCDS12325.1																																																																																				0.557	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		T	15228699	A	T	15228699	2	4	141	1	0	0	0	0	0	0	0	1	7717	175	7	5		5	ILVBL	19	15228699	Silent	SNP	A	TCGA-B0-4814-01A-01D-1361-10	9305442	15228699	43900284	58	8441											
ZNF43	7594	hgsc.bcm.edu	37	19	21992281	21992281	+	Silent	SNP	A	A	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr19:21992281A>C	ENST00000354959.4	-	4	727	c.558T>G	c.(556-558)ctT>ctG	p.L186L	ZNF43_ENST00000595461.1_Silent_p.L180L|ZNF43_ENST00000598381.1_Silent_p.L180L|ZNF43_ENST00000594012.1_Silent_p.L180L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTAGATGTGGAAGCATGCAAA	0.313																																																0													43	43	43					19																	21992281		2202	4298	6500	SO:0001819	synonymous_variant	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.558T>G	19.37:g.21992281A>C			A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																				0.313	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		C	21992281	A	C	21992281	2	2	141	1	0	0	0	0	0	0	0	1	17908	233	9	5		5	ZNF43	19	21992281	Silent	SNP	A	TCGA-B0-4814-01A-01D-1361-10	6763582	21992281	37136702	59	8442											
CCDC114	93233	hgsc.bcm.edu	37	19	48809521	48809521	+	Silent	SNP	G	G	A			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr19:48809521G>A	ENST00000315396.7	-	6	1228	c.546C>T	c.(544-546)taC>taT	p.Y182Y		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	182					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		ACCTGACGGCGTAGGCAGAGG	0.557																																																0													106	125	119					19																	48809521		692	1591	2283	SO:0001819	synonymous_variant	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.546C>T	19.37:g.48809521G>A			Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	CCDS12714.2																																																																																				0.557	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		A	48809521	G	A	48809521	2	1	141	1	0	0	0	0	0	0	0	1	2753	1140	40	1		1	CCDC114	19	48809521	Silent	SNP	G	TCGA-B0-4814-01A-01D-1361-10	26817240	48809521	10319462	60	8443											
ZNF304	57343	hgsc.bcm.edu	37	19	57867886	57867886	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr19:57867886T>C	ENST00000282286.5	+	3	822	c.649T>C	c.(649-651)Tat>Cat	p.Y217H	ZNF304_ENST00000598744.1_Missense_Mutation_p.Y175H|ZNF304_ENST00000443917.2_Missense_Mutation_p.Y264H|ZNF304_ENST00000391705.3_Missense_Mutation_p.Y217H			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y217H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CCAAGGAGACTATGATGGACA	0.507																																																1	Substitution - Missense(1)	ovary(1)											108	87	94					19																	57867886		2203	4300	6503	SO:0001583	missense	57343			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.649T>C	19.37:g.57867886T>C	ENSP00000282286:p.Tyr217His			Missense_Mutation	SNP	ENST00000282286.5	37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	t	0.167	-1.075261	0.01903	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.06068	3.35;3.35;3.35	3.45	-0.0844	0.13690	.	.	.	.	.	T	0.00754	0.0025	N	0.00014	-2.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46400	-0.9194	9	0.02654	T	1	.	4.5128	0.11919	0.1724:0.6023:0.0:0.2253	.	217;264	Q9HCX3;E7EQD3	ZN304_HUMAN;.	H	217;217;264	ENSP00000282286:Y217H;ENSP00000375586:Y217H;ENSP00000401642:Y264H	ENSP00000282286:Y217H	Y	+	1	0	ZNF304	62559698	0.000000	0.05858	0.005000	0.12908	0.382000	0.30200	-0.052000	0.11865	0.059000	0.16252	0.451000	0.29950	TAT		0.507	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			C	57867886	T	C	57867886	3	2	141	1	0	0	0	0	1	0	0	0	17838	1522	53	3	659	3	ZNF304	19	57867886	Missense_Mutation	SNP	T	TCGA-B0-4814-01A-01D-1361-10	9058365	57867886	1261097	61	8444											
PIGT	51604	hgsc.bcm.edu	37	20	44054403	44054403	+	Silent	SNP	A	A	C			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr20:44054403A>C	ENST00000279036.6	+	12	1754	c.1674A>C	c.(1672-1674)acA>acC	p.T558T	PIGT_ENST00000372689.5_Silent_p.T491T|PIGT_ENST00000545755.1_Silent_p.T296T|PIGT_ENST00000543458.2_Silent_p.T502T|PIGT_ENST00000279035.9_Silent_p.T456T|PIGT_ENST00000535404.1_Silent_p.T403T|PIGT_ENST00000341555.5_Silent_p.T364T	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	558					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.T558T(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				AGCCCCGCACAGGTGGCCTGG	0.622																																																1	Substitution - coding silent(1)	large_intestine(1)											38	33	34					20																	44054403		2203	4300	6503	SO:0001819	synonymous_variant	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1674A>C	20.37:g.44054403A>C			B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	CCDS13353.1																																																																																				0.622	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		C	44054403	A	C	44054403	2	2	141	1	0	0	0	0	0	0	0	1	11901	175	7	5		5	PIGT	20	44054403	Silent	SNP	A	TCGA-B0-4814-01A-01D-1361-10		44054403	18971117	62	8445											
DSCAM	1826	hgsc.bcm.edu	37	21	41516473	41516474	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr21:41516473_41516474insT	ENST00000400454.1	-	17	3680_3681	c.3203_3204insA	c.(3202-3204)aacfs	p.N1068fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1068	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCCGGCCCGGTTACAGGCCTG	0.579																																					Melanoma(134;970 1778 1785 21664 32388)											0																																										SO:0001589	frameshift_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3204dupA	21.37:g.41516475_41516475dupT	ENSP00000383303:p.Asn1068fs		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	CCDS42929.1																																																																																				0.579	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		T	41516474	-	T	41516473	7	5	141	1	0	1	1	0	0	0	0	0	4770	1252	44	0	2902	0	DSCAM	21	41516473	Frame_Shift_Ins	INS	-	TCGA-B0-4814-01A-01D-1361-10		41516473	6613422	63	8446											
AIFM3	150209	hgsc.bcm.edu;ucsc.edu	37	22	21331182	21331182	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr22:21331182C>G	ENST00000399167.2	+	13	1413	c.1173C>G	c.(1171-1173)ttC>ttG	p.F391L	AIFM3_ENST00000399163.2_Missense_Mutation_p.F391L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Missense_Mutation_p.F391L|AIFM3_ENST00000405089.1_Missense_Mutation_p.F397L|AIFM3_ENST00000440238.2_Missense_Mutation_p.F391L|AIFM3_ENST00000335375.5_Missense_Mutation_p.F379L	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	391					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGTGAAGTTCTACATGCAGA	0.642																																																0													116	119	118					22																	21331182		2203	4300	6503	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1173C>G	22.37:g.21331182C>G	ENSP00000382120:p.Phe391Leu		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796322	0.70567	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	5.48	4.26	0.50523	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	L	0.41961	1.31	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;0.988;0.985;0.985;0.988	D;D;P;P;P	0.97110	1.0;0.944;0.868;0.868;0.893	T	0.56135	-0.8029	10	0.37606	T	0.19	-23.1053	8.3863	0.32501	0.0:0.8158:0.0:0.1842	.	379;379;397;391;391	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	L	391;391;397;379;391;391	ENSP00000382120:F391L;ENSP00000382116:F391L;ENSP00000385800:F397L;ENSP00000335369:F379L;ENSP00000390798:F391L;ENSP00000327671:F391L	ENSP00000327671:F391L	F	+	3	2	AIFM3	19661182	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.653000	0.37323	2.588000	0.87417	0.561000	0.74099	TTC		0.642	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		G	21331182	C	G	21331182	3	3	141	1	0	0	0	0	1	0	0	0	428	912	32	4	1237	4	AIFM3	22	21331182	Missense_Mutation	SNP	C	TCGA-B0-4814-01A-01D-1361-10		21331182	29973384	64	8447											
EWSR1	2130	hgsc.bcm.edu	37	22	29694787	29694787	+	Silent	SNP	A	A	G			TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr22:29694787A>G	ENST00000397938.2	+	14	1801	c.1482A>G	c.(1480-1482)agA>agG	p.R494R	EWSR1_ENST00000414183.2_Silent_p.R499R|EWSR1_ENST00000406548.1_Silent_p.R493R|EWSR1_ENST00000332035.6_Silent_p.R438R|EWSR1_ENST00000331029.7_Silent_p.R456R|EWSR1_ENST00000332050.6_Silent_p.R421R	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	494	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGAGATAGAGGAGGCTTCC	0.602			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	0													73	81	79					22																	29694787		2203	4300	6503	SO:0001819	synonymous_variant	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1482A>G	22.37:g.29694787A>G			B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Silent	SNP	ENST00000397938.2	37	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	A	9.859	1.195650	0.22037	.	.	ENSG00000182944	ENST00000360091	T	0.48836	0.8	5.52	4.43	0.53597	.	0.000000	0.85682	U	0.000000	T	0.29524	0.0736	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12604	-1.0541	7	0.10377	T	0.69	.	4.1253	0.10125	0.6962:0.0:0.1211:0.1827	.	.	.	.	G	150	ENSP00000353204:R150G	ENSP00000353204:R150G	R	+	1	2	EWSR1	28024787	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.674000	0.37544	2.100000	0.63781	0.379000	0.24179	AGG		0.602	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		G	29694787	A	G	29694787	2	3	141	1	0	0	0	0	0	0	0	1	5298	301	11	3		3	EWSR1	22	29694787	Silent	SNP	A	TCGA-B0-4814-01A-01D-1361-10	8363605	29694787	21609779	65	8448											
MTMR3	8897	hgsc.bcm.edu	37	22	30408372	30408372	+	Silent	SNP	T	T	C	rs147773147		TCGA-B0-4814-01A-01D-1361-10	TCGA-B0-4814-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	434bfcd7-ba14-4ace-8e0d-e78592f0af0d	c063ccb3-5795-44c6-b655-45560b9cd982	g.chr22:30408372T>C	ENST00000401950.2	+	13	1479	c.1137T>C	c.(1135-1137)ctT>ctC	p.L379L	MTMR3_ENST00000406629.1_Silent_p.L379L|MTMR3_ENST00000323630.5_Silent_p.L243L|MTMR3_ENST00000351488.3_Silent_p.L379L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Silent_p.L379L	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	379	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TATCAGCTCTTGAAAGCACAA	0.413																																																0								T	,,	0,4406		0,0,2203	120	120	120		1137,1137,1137	-3.9	1	22	dbSNP_134	120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	MTMR3	NM_021090.3,NM_153050.2,NM_153051.2	,,	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	,,	379/1199,379/1171,379/1162	30408372	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1137T>C	22.37:g.30408372T>C			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																				0.413	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		C	30408372	T	C	30408372	2	2	141	1	0	0	0	0	0	0	0	1	9947	1799	63	3		3	MTMR3	22	30408372	Silent	SNP	T	TCGA-B0-4814-01A-01D-1361-10	713585	30408372	20896194	66	8449											
EXOSC10	5394	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11128077	11128077	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:11128077C>G	ENST00000376936.4	-	24	2664	c.2615G>C	c.(2614-2616)gGa>gCa	p.G872A	RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000304457.7_Missense_Mutation_p.G847A|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	872					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G872A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTCTGACTTTCCAGTTGGAAA	0.527																																					Colon(179;105 1987 14326 27364 29542)											1	Substitution - Missense(1)	kidney(1)											140	134	136					1																	11128077		2203	4300	6503	SO:0001583	missense	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2615G>C	1.37:g.11128077C>G	ENSP00000366135:p.Gly872Ala		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359810	0.24598	.	.	ENSG00000171824	ENST00000376936;ENST00000304457	.	.	.	5.25	2.3	0.28687	.	0.228803	0.44285	D	0.000467	T	0.32466	0.0830	N	0.19112	0.55	0.40617	D	0.981729	B;B	0.28378	0.204;0.209	B;B	0.27076	0.076;0.063	T	0.11591	-1.0581	9	0.46703	T	0.11	-10.3441	6.3365	0.21298	0.0:0.5538:0.2873:0.159	.	847;872	Q01780-2;Q01780	.;EXOSX_HUMAN	A	872;847	.	ENSP00000307307:G847A	G	-	2	0	EXOSC10	11050664	0.979000	0.34478	0.011000	0.14972	0.138000	0.21146	2.890000	0.48609	0.704000	0.31869	-0.302000	0.09304	GGA		0.527	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		G	11128077	C	G	11128077	3	3	142	1	0	0	0	0	1	0	0	0	5316	855	30	4	50	4	EXOSC10	1	11128077	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10		11128077	238122544	1	8450											
FAM54B	56181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26153147	26153147	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:26153147C>A	ENST00000374301.3	+	5	589	c.281C>A	c.(280-282)cCt>cAt	p.P94H	MTFR1L_ENST00000466284.1_Missense_Mutation_p.P94H|MTFR1L_ENST00000469815.1_Intron|MTFR1L_ENST00000374300.3_Missense_Mutation_p.P94H|MTFR1L_ENST00000474295.1_Missense_Mutation_p.P94H|MTFR1L_ENST00000374303.2_Missense_Mutation_p.P94H|MTFR1L_ENST00000374307.5_Missense_Mutation_p.P94H|MTFR1L_ENST00000526894.1_Missense_Mutation_p.P94H|MTFR1L_ENST00000524618.1_5'UTR	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	94								p.P94H(1)									AAACCCAGCCCTCTGATTGTC	0.597																																																1	Substitution - Missense(1)	kidney(1)											130	134	132					1																	26153147		2011	4177	6188	SO:0001583	missense	0				CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"family with sequence similarity 54, member B"	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.281C>A	1.37:g.26153147C>A	ENSP00000363419:p.Pro94His		A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432366	0.83776	.	.	ENSG00000117640	ENST00000424294;ENST00000374303;ENST00000529116;ENST00000474295;ENST00000526894;ENST00000374307;ENST00000525713;ENST00000374301;ENST00000526158;ENST00000374300;ENST00000466284	T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.8	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.989;0.999;0.999;0.999	T	0.57619	-0.7780	10	0.33940	T	0.23	-3.356	14.6251	0.68616	0.0:0.9306:0.0:0.0694	.	127;94;94;94	B4DRE5;Q9H019-3;Q9H019-2;Q9H019	.;.;.;FA54B_HUMAN	H	94	ENSP00000390841:P94H;ENSP00000363421:P94H;ENSP00000434038:P94H;ENSP00000435461:P94H;ENSP00000432227:P94H;ENSP00000363426:P94H;ENSP00000434120:P94H;ENSP00000363419:P94H;ENSP00000431278:P94H;ENSP00000363418:P94H;ENSP00000434751:P94H	ENSP00000363418:P94H	P	+	2	0	FAM54B	26025734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	1.461000	0.47929	0.655000	0.94253	CCT		0.597	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557		A	26153147	C	A	26153147	3	1	142	1	0	0	0	0	1	0	0	0	5585	681	24	4	295	4	FAM54B	1	26153147	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	15025070	26153147	223097474	2	8451											
TMEM59	9528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54506474	54506474	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:54506474A>C	ENST00000234831.5	-	6	911	c.662T>G	c.(661-663)tTt>tGt	p.F221C	TMEM59_ENST00000371341.1_Missense_Mutation_p.F90C|TMEM59_ENST00000371348.1_Missense_Mutation_p.F90C|TMEM59_ENST00000371344.1_Missense_Mutation_p.F90C	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	221					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.F221C(1)		kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						ATCTTCAAGAAAATTCCTGTG	0.343																																																1	Substitution - Missense(1)	kidney(1)											104	104	104					1																	54506474		2203	4300	6503	SO:0001583	missense	9528			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 8"	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.662T>G	1.37:g.54506474A>C	ENSP00000234831:p.Phe221Cys		B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	ENST00000234831.5	37	CCDS586.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407889	0.25378	.	.	ENSG00000116209	ENST00000371348;ENST00000371344;ENST00000234831;ENST00000371341;ENST00000371338;ENST00000420738;ENST00000440019;ENST00000452421	T;T	0.43688	0.95;0.94	5.23	0.0639	0.14351	.	0.827388	0.11191	N	0.589926	T	0.34919	0.0914	L	0.44542	1.39	0.19575	N	0.999962	P;P;B;P	0.43938	0.56;0.822;0.0;0.56	P;P;B;B	0.46543	0.52;0.52;0.0;0.205	T	0.17349	-1.0372	10	0.39692	T	0.17	-8.048	2.6503	0.04996	0.5232:0.0796:0.1099:0.2873	.	232;232;222;221	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	C	90;90;221;90;232;90;90;232	ENSP00000234831:F221C;ENSP00000397772:F232C	ENSP00000234831:F221C	F	-	2	0	TMEM59	54279062	0.820000	0.29190	0.936000	0.37596	0.748000	0.42578	0.825000	0.27393	-0.165000	0.10908	-0.347000	0.07816	TTT		0.343	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	NM_004872		C	54506474	A	C	54506474	3	2	142	1	0	0	0	0	1	0	0	0	16190	14	1	5	321	5	TMEM59	1	54506474	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10	28353327	54506474	194744147	3	8452											
JUN	3725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	59247909	59247909	+	Silent	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:59247909G>C	ENST00000371222.2	-	1	1876	c.834C>G	c.(832-834)gcC>gcG	p.A278A	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	278	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A278A(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	CCTCCAGCCGGGCGATTCTCT	0.562			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		1	1p32-p31	3725	jun oncogene		M	1	Substitution - coding silent(1)	kidney(1)											91	91	91					1																	59247909		2203	4300	6503	SO:0001819	synonymous_variant	3725			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.834C>G	1.37:g.59247909G>C		1037	Q6FHM7|Q96G93	Silent	SNP	ENST00000371222.2	37	CCDS610.1																																																																																				0.562	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		C	59247909	G	C	59247909	2	2	142	1	0	0	0	0	0	0	0	1	7971	1219	43	4		4	JUN	1	59247909	Silent	SNP	G	TCGA-B0-4815-01A-01D-1501-10	4741435	59247909	190002712	4	8453											
CCDC18	343099	hgsc.bcm.edu;ucsc.edu	37	1	93657661	93657661	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:93657661G>C	ENST00000343253.7	+	5	1069	c.567G>C	c.(565-567)ttG>ttC	p.L189F	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.L307F|CCDC18_ENST00000401026.3_Missense_Mutation_p.L189F			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	189										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ATAAAGTTTTGAGGTAAATAT	0.333																																																0													59	56	57					1																	93657661		1790	4065	5855	SO:0001583	missense	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.567G>C	1.37:g.93657661G>C	ENSP00000343377:p.Leu189Phe		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.76|16.76	3.212094|3.212094	0.58452|0.58452	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000370276	.|.	.|.	.|.	5.2|5.2	3.34|3.34	0.38264|0.38264	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|.	0.46639|.	0.1403|.	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|.	0.42310|.	-0.9459|.	9|.	0.72032|.	D|.	0.01|.	.|.	8.8941|8.8941	0.35453|0.35453	0.1748:0.0:0.8252:0.0|0.1748:0.0:0.8252:0.0	.|.	307|.	G3V388|.	.|.	F|S	189;189;307|243	.|.	ENSP00000343377:L189F|.	L|X	+|+	3|2	2|2	CCDC18|CCDC18	93430249|93430249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	0.536000|0.536000	0.23129|0.23129	0.604000|0.604000	0.29930|0.29930	-0.259000|-0.259000	0.10710|0.10710	TTG|TGA		0.333	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		C	93657661	G	C	93657661	3	2	142	1	0	0	0	0	1	0	0	0	2796	1281	45	4	939	4	CCDC18	1	93657661	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10	34409752	93657661	155592960	5	8454											
ARHGEF2	9181	broad.mit.edu	37	1	155932492	155932492	+	Silent	SNP	C	C	G	rs75834511	byFrequency	TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:155932492C>G	ENST00000361247.4	-	9	1092	c.993G>C	c.(991-993)gcG>gcC	p.A331A	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Silent_p.A303A|ARHGEF2_ENST00000313695.7_Silent_p.A303A|ARHGEF2_ENST00000313667.4_Silent_p.A330A|ARHGEF2_ENST00000368315.4_Silent_p.A332A|ARHGEF2_ENST00000462460.2_Silent_p.A376A	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	331	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A303A(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACATCTGCTCCGCACTAGGAC	0.537																																					Melanoma(178;35 2768 6610 28839)											1	Substitution - coding silent(1)	kidney(1)											71	69	69					1																	155932492		2203	4300	6503	SO:0001819	synonymous_variant	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.993G>C	1.37:g.155932492C>G			D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	CCDS53376.1																																																																																				0.537	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		G	155932492	C	G	155932492	2	3	142	1	0	0	0	0	0	0	0	1	903	639	23	4		4	ARHGEF2	1	155932492	Silent	SNP	C	TCGA-B0-4815-01A-01D-1501-10	62274831	155932492	93318129	6	8455											
OR10J5	127385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159505240	159505240	+	Silent	SNP	A	A	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:159505240A>C	ENST00000334857.2	-	1	602	c.558T>G	c.(556-558)ctT>ctG	p.L186L		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L186L(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAATGCAAGAAAGTTTCATGA	0.393																																																1	Substitution - coding silent(1)	kidney(1)											81	75	77					1																	159505240		2203	4300	6503	SO:0001819	synonymous_variant	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.558T>G	1.37:g.159505240A>C			B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	CCDS30910.1																																																																																				0.393	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		C	159505240	A	C	159505240	2	2	142	1	0	0	0	0	0	0	0	1	10914	1	1	5		5	OR10J5	1	159505240	Silent	SNP	A	TCGA-B0-4815-01A-01D-1501-10	3572748	159505240	89745381	7	8456											
SLC9A11	284525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	173526501	173526501	+	Missense_Mutation	SNP	C	C	T	rs528983665		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:173526501C>T	ENST00000367714.3	-	10	1615	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R296Q|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	398					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.R398Q(2)									TTCCACTTTTCGTTCAGCGAG	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		17442	0.0		0.0	False		,,,				2504	0.001															2	Substitution - Missense(2)	kidney(1)|skin(1)											104	113	110					1																	173526501		2203	4300	6503	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1193G>A	1.37:g.173526501C>T	ENSP00000356687:p.Arg398Gln		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	4.407	0.075265	0.08485	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.20598	2.06;2.06	5.56	0.186	0.15105	Cation/H+ exchanger (1);	1.946090	0.02262	N	0.067620	T	0.02304	0.0071	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32508	-0.9904	10	0.27785	T	0.31	-0.0524	2.3114	0.04187	0.1443:0.0856:0.33:0.44	.	398	Q5TAH2	S9A11_HUMAN	Q	398;296	ENSP00000356687:R398Q;ENSP00000445437:R296Q	ENSP00000356687:R398Q	R	-	2	0	SLC9A11	171793124	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.220000	0.17660	0.067000	0.16545	-0.324000	0.08512	CGA		0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		T	173526501	C	T	173526501	3	4	142	1	0	0	0	0	1	0	0	0	14717	884	31	1	2257	1	SLC9A11	1	173526501	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	14021261	173526501	75724120	8	8457											
CDC73	79577	broad.mit.edu;ucsc.edu	37	1	193181526	193181526	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:193181526G>A	ENST00000367435.3	+	13	1257	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	358	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R358Q(1)|p.R358L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ATAGGATCTCGAACACCCATT	0.279																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											122	136	131					1																	193181526		2203	4299	6502	SO:0001583	missense	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1073G>A	1.37:g.193181526G>A	ENSP00000356405:p.Arg358Gln		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	36	5.633362	0.96682	.	.	ENSG00000134371	ENST00000367435	T	0.69435	-0.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.81675	-0.0825	10	0.32370	T	0.25	-8.1698	20.6593	0.99626	0.0:0.0:1.0:0.0	.	358	Q6P1J9	CDC73_HUMAN	Q	358	ENSP00000356405:R358Q	ENSP00000356405:R358Q	R	+	2	0	CDC73	191448149	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.732000	0.91534	2.885000	0.99019	0.655000	0.94253	CGA		0.279	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		A	193181526	G	A	193181526	3	1	142	1	0	0	0	0	1	0	0	0	3087	1058	37	1	1123	1	CDC73	1	193181526	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10	19655025	193181526	56069095	9	8458											
RBBP5	5929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205084987	205084987	+	Splice_Site	SNP	T	T	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:205084987T>C	ENST00000264515.6	-	2	185	c.44A>G	c.(43-45)gAg>gGg	p.E15G	RBBP5_ENST00000367164.1_Splice_Site_p.E15G|RBBP5_ENST00000484379.1_Intron	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	15					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.E15G(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACTCTTACCTCTGGATAGTT	0.378																																																1	Substitution - Missense(1)	kidney(1)											190	191	190					1																	205084987		2203	4300	6503	SO:0001630	splice_region_variant	5929			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.45+1A>G	1.37:g.205084987T>C			A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732163	0.89390	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.64991	-0.13;-0.07	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.82490	0.5048	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.988;0.972	D	0.86374	0.1725	10	0.87932	D	0	.	13.2527	0.60060	0.0:0.0:0.0:1.0	.	50;15;15	B4DMM7;Q15291-2;Q15291	.;.;RBBP5_HUMAN	G	15	ENSP00000264515:E15G;ENSP00000356132:E15G	ENSP00000264515:E15G	E	-	2	0	RBBP5	203351610	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.587000	0.74071	2.151000	0.67156	0.397000	0.26171	GAG		0.378	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057	Missense_Mutation	C	205084987	T	C	205084987	5	2	142	1	0	0	0	0	0	0	1	0	13108	1565	54	3	1624	3	RBBP5	1	205084987	Splice_Site	SNP	T	TCGA-B0-4815-01A-01D-1501-10	11903461	205084987	44165634	10	8459											
C4BPA	722	broad.mit.edu;ucsc.edu	37	1	207304992	207304992	+	Missense_Mutation	SNP	C	C	T	rs200186980		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:207304992C>T	ENST00000367070.3	+	8	1185	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	331	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.R331C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTTAAGGTACCGCTGTCATCC	0.443																																																1	Substitution - Missense(1)	kidney(1)											195	140	159					1																	207304992		2203	4300	6503	SO:0001583	missense	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.991C>T	1.37:g.207304992C>T	ENSP00000356037:p.Arg331Cys		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.677984	0.47886	.	.	ENSG00000123838	ENST00000367070	T	0.65916	-0.18	4.66	-9.31	0.00646	Complement control module (2);Sushi/SCR/CCP (3);	4.082580	0.00357	N	0.000039	T	0.62356	0.2421	L	0.43152	1.355	0.09310	N	1	D	0.71674	0.998	D	0.63703	0.917	T	0.69128	-0.5227	10	0.59425	D	0.04	.	2.2178	0.03964	0.4868:0.1242:0.0917:0.2973	.	331	P04003	C4BPA_HUMAN	C	331	ENSP00000356037:R331C	ENSP00000356037:R331C	R	+	1	0	C4BPA	205371615	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-4.151000	0.00285	-2.115000	0.00831	0.655000	0.94253	CGC		0.443	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			T	207304992	C	T	207304992	3	4	142	1	0	0	0	0	1	0	0	0	2251	652	23	1	1017	1	C4BPA	1	207304992	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	2220005	207304992	41945629	11	8460											
SLC35F3	148641	broad.mit.edu;ucsc.edu	37	1	234458836	234458836	+	Silent	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr1:234458836C>T	ENST00000366617.3	+	7	1341	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	SLC35F3_ENST00000366618.3_Silent_p.L440L			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	371					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.L440L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTTTTCTCCTCCTGCTCCTGC	0.562											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											131	114	120					1																	234458836		2203	4300	6503	SO:0001819	synonymous_variant	148641				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.1113C>T	1.37:g.234458836C>T		2373	Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366617.3	37																																																																																					0.562	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		T	234458836	C	T	234458836	2	4	142	1	0	0	0	0	0	0	0	1	14596	842	30	2		2	SLC35F3	1	234458836	Silent	SNP	C	TCGA-B0-4815-01A-01D-1501-10	27153844	234458836	14791785	12	8461											
C2orf89	129293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	85066361	85066361	+	Silent	SNP	G	G	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr2:85066361G>T	ENST00000409520.2	-	4	945	c.903C>A	c.(901-903)atC>atA	p.I301I	TRABD2A_ENST00000409133.1_Silent_p.I301I|TRABD2A_ENST00000335459.5_Silent_p.I252I	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	301					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.I252I(1)|p.I301I(1)									TCCGCTTGTAGATCAGCTCCC	0.507																																																2	Substitution - coding silent(2)	kidney(2)											79	79	79					2																	85066361		1913	4122	6035	SO:0001819	synonymous_variant	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.903C>A	2.37:g.85066361G>T			B4DKK8|I6UMB9	Silent	SNP	ENST00000409520.2	37																																																																																					0.507	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		T	85066361	G	T	85066361	2	4	142	1	0	0	0	0	0	0	0	1	2205	932	33	4		4	C2orf89	2	85066361	Silent	SNP	G	TCGA-B0-4815-01A-01D-1501-10		85066361	158133012	13	8462											
PAX8	7849	broad.mit.edu	37	2	113999705	113999705	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr2:113999705G>A	ENST00000429538.3	-	6	675	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P161S|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.P161S|AC016683.6_ENST00000437551.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.P161S|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.P161S|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000436293.2_RNA|RP11-65I12.1_ENST00000553319.1_RNA|AC016683.6_ENST00000451179.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	161					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)	p.P161S(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCTGAGCTGGGGACTGCAGTG	0.642			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	1	Substitution - Missense(1)	kidney(1)											20	21	21					2																	113999705		1946	4145	6091	SO:0001583	missense	7849			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.481C>T	2.37:g.113999705G>A	ENSP00000395498:p.Pro161Ser		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	g	13.48	2.249123	0.39797	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.97831	-4.56;-4.55;-4.33;-3.92;-4.33	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	N	0.25332	0.735	0.80722	D	1	D;B;D;B;B	0.89917	0.996;0.244;1.0;0.036;0.026	D;B;D;B;B	0.80764	0.986;0.067;0.994;0.03;0.012	D	0.96723	0.9534	10	0.31617	T	0.26	.	16.4726	0.84115	0.0:0.0:1.0:0.0	.	161;161;161;161;161	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	S	161	ENSP00000263335:P161S;ENSP00000380768:P161S;ENSP00000314750:P161S;ENSP00000395498:P161S;ENSP00000263334:P161S	ENSP00000263334:P161S	P	-	1	0	PAX8	113716175	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	3.409000	0.52657	2.550000	0.86006	0.552000	0.68991	CCC		0.642	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			A	113999705	G	A	113999705	3	1	142	1	0	0	0	0	1	0	0	0	11487	1232	43	2	774	2	PAX8	2	113999705	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10	28933344	113999705	129199668	14	8463											
POTEF	728378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	130832626	130832626	+	Missense_Mutation	SNP	C	C	T	rs368389320		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr2:130832626C>T	ENST00000409914.2	-	17	2818	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K	POTEF_ENST00000357462.5_Missense_Mutation_p.E807K	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	807	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E807K(2)|p.E807*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGGGTGGCCTCGGTCAGCAGG	0.587																																																3	Substitution - Missense(2)|Substitution - Nonsense(1)	lung(1)|breast(1)|kidney(1)						C	LYS/GLU	0,4406		0,0,2203	123	132	129		2419		0.1	2		129	1,8599		0,1,4299	no	missense	POTEF	NM_001099771.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	807/1076	130832626	1,13005	2203	4300	6503	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2419G>A	2.37:g.130832626C>T	ENSP00000386786:p.Glu807Lys		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	16.32	3.090688	0.55968	0.0	1.16E-4	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.96940	-4.18;-4.18	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98378	0.9461	H	0.98068	4.14	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.96321	0.9236	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	807	A5A3E0	POTEF_HUMAN	K	807	ENSP00000350052:E807K;ENSP00000386786:E807K	ENSP00000350052:E807K	E	-	1	0	POTEF	130549096	1.000000	0.71417	0.065000	0.19835	0.066000	0.16364	5.244000	0.65400	0.119000	0.18210	0.121000	0.15741	GAG		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130832626	C	T	130832626	3	4	142	1	0	0	0	0	1	0	0	0	12267	893	31	1	812	1	POTEF	2	130832626	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	16832921	130832626	112366747	15	8464											
BAZ2B	29994	broad.mit.edu;ucsc.edu	37	2	160206389	160206389	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr2:160206389G>C	ENST00000392783.2	-	28	5188	c.4693C>G	c.(4693-4695)Cga>Gga	p.R1565G	BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1465G|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1529G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1531G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1565G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAGGGTGTTCGTGGCAAAAGA	0.458																																																1	Substitution - Missense(1)	kidney(1)											195	192	193					2																	160206389		2105	4234	6339	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4693C>G	2.37:g.160206389G>C	ENSP00000376534:p.Arg1565Gly		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	8.572	0.880273	0.17467	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.67698	-0.28;-0.25;-0.28;-0.28	6.17	5.03	0.67393	.	0.185472	0.25546	U	0.029938	T	0.76285	0.3966	M	0.66939	2.045	0.41069	D	0.985439	P;D	0.59357	0.787;0.985	P;P	0.57244	0.469;0.816	T	0.79014	-0.1976	10	0.87932	D	0	-13.7468	13.3736	0.60726	0.0:0.0:0.2569:0.7431	.	1529;1565	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	G	1529;1565;1531;1465	ENSP00000376533:R1529G;ENSP00000376534:R1565G;ENSP00000348087:R1531G;ENSP00000339670:R1465G	ENSP00000339670:R1465G	R	-	1	2	BAZ2B	159914635	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.935000	0.56560	1.162000	0.42619	-0.262000	0.10625	CGA		0.458	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			C	160206389	G	C	160206389	3	2	142	1	0	0	0	0	1	0	0	0	1332	1153	40	4	1853	4	BAZ2B	2	160206389	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10	29373763	160206389	82992984	16	8465											
SLC19A3	80704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228563604	228563604	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr2:228563604T>G	ENST00000258403.3	-	3	898	c.827A>C	c.(826-828)aAa>aCa	p.K276T	SLC19A3_ENST00000541617.1_Missense_Mutation_p.K272T|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	276					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.K276T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GAAAAGACGTTTTGAGGAGTA	0.468																																																1	Substitution - Missense(1)	kidney(1)											106	99	102					2																	228563604		2203	4300	6503	SO:0001583	missense	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.827A>C	2.37:g.228563604T>G	ENSP00000258403:p.Lys276Thr			Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.567788	0.28003	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	D;D	0.82167	-1.58;-1.58	5.76	2.12	0.27331	Major facilitator superfamily domain, general substrate transporter (1);	0.343572	0.32918	N	0.005487	T	0.71796	0.3382	L	0.47716	1.5	0.09310	N	1	P;B	0.35575	0.51;0.037	B;B	0.35770	0.21;0.14	T	0.57015	-0.7883	10	0.19590	T	0.45	-4.8363	4.5576	0.12143	0.1465:0.3623:0.0:0.4911	.	272;276	F5H2M8;Q9BZV2	.;S19A3_HUMAN	T	276;272	ENSP00000258403:K276T;ENSP00000445519:K272T	ENSP00000258403:K276T	K	-	2	0	SLC19A3	228271848	0.000000	0.05858	0.260000	0.24451	0.933000	0.57130	0.360000	0.20250	0.131000	0.18576	0.533000	0.62120	AAA		0.468	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			G	228563604	T	G	228563604	3	3	142	1	0	0	0	0	1	0	0	0	14436	1841	64	5	679	5	SLC19A3	2	228563604	Missense_Mutation	SNP	T	TCGA-B0-4815-01A-01D-1501-10	68357215	228563604	14635769	17	8466											
IL17RC	84818	hgsc.bcm.edu;ucsc.edu	37	3	9965582	9965582	+	Missense_Mutation	SNP	G	G	A	rs75692599	byFrequency	TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr3:9965582G>A	ENST00000295981.3	+	8	1071	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	IL17RC_ENST00000383812.4_Missense_Mutation_p.V199M|IL17RC_ENST00000403601.3_Missense_Mutation_p.V214M|IL17RC_ENST00000413608.1_Missense_Mutation_p.V214M|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.V199M|IL17RC_ENST00000416074.2_Missense_Mutation_p.V70M	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	285					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGGCTCAACGTGTCAGCAGA	0.567													G|||	24	0.00479233	0.003	0.0058	5008	,	,		19241	0.0		0.0159	False		,,,				2504	0.0															0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	10,4396	16.8+/-37.8	0,10,2193	83	76	78		640,640,595,595,640,853	2.2	0.1	3	dbSNP_131	78	202,8398	87.9+/-150.2	5,192,4103	yes	missense,missense,missense,missense,missense,missense	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	21,21,21,21,21,21	5,202,6296	AA,AG,GG		2.3488,0.227,1.63	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	214/708,214/691,199/689,199/706,214/721,285/792	9965582	212,12794	2203	4300	6503	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.853G>A	3.37:g.9965582G>A	ENSP00000295981:p.Val285Met		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	15	0.006868131868131868	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	11	0.014511873350923483	G	8.788	0.929765	0.18131	0.00227	0.023488	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1	5.47	2.2	0.27929	.	0.636179	0.13137	N	0.410970	T	0.17577	0.0422	M	0.64997	1.995	0.09310	N	1	D;D;P;P;D;D;D;D;D	0.76494	0.981;0.999;0.943;0.943;0.994;0.99;0.966;0.997;0.997	B;P;B;B;P;P;B;P;P	0.57283	0.428;0.817;0.246;0.246;0.557;0.557;0.428;0.654;0.704	T	0.06625	-1.0816	10	0.62326	D	0.03	-8.7325	4.2685	0.10775	0.0961:0.1562:0.5875:0.1602	.	199;70;199;214;214;214;199;285;214	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	M	199;174;285;189;214;70;199;214	ENSP00000373323:V199M;ENSP00000414609:V174M;ENSP00000295981:V285M;ENSP00000401128:V189M;ENSP00000384969:V214M;ENSP00000395315:V70M;ENSP00000407894:V199M;ENSP00000396064:V214M	ENSP00000295981:V285M	V	+	1	0	IL17RC	9940582	0.951000	0.32395	0.104000	0.21259	0.258000	0.26162	1.493000	0.35605	0.687000	0.31509	0.638000	0.83543	GTG		0.567	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		A	9965582	G	A	9965582	3	1	142	1	0	0	0	0	1	0	0	0	7643	1145	40	1	883	1	IL17RC	3	9965582	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10		9965582	188056848	18	8467											
FGD5	152273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	14862883	14862883	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr3:14862883G>A	ENST00000285046.5	+	1	2415	c.2305G>A	c.(2305-2307)Gct>Act	p.A769T	FGD5_ENST00000543601.1_Missense_Mutation_p.A528T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	769					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A769T(1)|p.A528T(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTTCCCCAGCGCTGACACTTC	0.592																																																2	Substitution - Missense(2)	kidney(2)											155	166	162					3																	14862883		2052	4199	6251	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2305G>A	3.37:g.14862883G>A	ENSP00000285046:p.Ala769Thr		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579163	0.86645	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.78481	-1.18;-0.98	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000020	T	0.77980	0.4212	L	0.61036	1.89	0.58432	D	0.999999	D;D	0.64830	0.994;0.994	B;B	0.43478	0.41;0.421	T	0.81084	-0.1093	10	0.51188	T	0.08	-22.1484	18.7482	0.91802	0.0:0.0:1.0:0.0	.	528;769	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	T	769;528	ENSP00000285046:A769T;ENSP00000445949:A528T	ENSP00000285046:A769T	A	+	1	0	FGD5	14837887	1.000000	0.71417	0.123000	0.21794	0.949000	0.60115	7.326000	0.79133	2.495000	0.84180	0.591000	0.81541	GCT		0.592	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		A	14862883	G	A	14862883	3	1	142	1	0	0	0	0	1	0	0	0	5838	1087	38	1	2307	1	FGD5	3	14862883	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10	4897301	14862883	183159547	19	8468											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52668807	52668807	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr3:52668807G>C	ENST00000296302.7	-	11	1113	c.1112C>G	c.(1111-1113)tCa>tGa	p.S371*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S371*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.S339*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S371*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S371*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S371*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S371*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S371*			Q86U86	PB1_HUMAN	polybromo 1	371					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S371*(2)|p.S339*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCTGCTTCTGACTCTCCCTC	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											80	78	79					3																	52668807		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1112C>G	3.37:g.52668807G>C	ENSP00000296302:p.Ser371*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	38	6.860062	0.97893	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-25.5488	20.2566	0.98424	0.0:0.0:1.0:0.0	.	.	.	.	X	339;371;371;371;371;371;371;371;371;315	.	ENSP00000296302:S371X	S	-	2	0	PBRM1	52643847	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.476000	0.97823	2.793000	0.96121	0.561000	0.74099	TCA		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52668807	G	C	52668807	4	2	142	1	0	0	0	0	0	1	0	0	11493	1294	45	4	3868	4	PBRM1	3	52668807	Nonsense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10	37805924	52668807	145353623	20	8469											
MFSD1	64747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	158545109	158545109	+	Silent	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr3:158545109A>T	ENST00000264266.8	+	15	1439	c.1377A>T	c.(1375-1377)atA>atT	p.I459I	MFSD1_ENST00000415822.2_Silent_p.I508I|MFSD1_ENST00000392813.4_Silent_p.I469I			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	459					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.I508I(1)|p.I459I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGGAAGAAATAAAATTTTCCC	0.284																																					Pancreas(62;1186 1654 36636 37908)											2	Substitution - coding silent(2)	kidney(2)											66	70	69					3																	158545109		2200	4290	6490	SO:0001819	synonymous_variant	64747			BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.1377A>T	3.37:g.158545109A>T			B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	37																																																																																					0.284	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		T	158545109	A	T	158545109	2	4	142	1	0	0	0	0	0	0	0	1	9529	352	13	5		5	MFSD1	3	158545109	Silent	SNP	A	TCGA-B0-4815-01A-01D-1501-10	105876302	158545109	39477321	21	8470											
CCDC149	91050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	24810062	24810062	+	Silent	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr4:24810062G>A	ENST00000389609.4	-	13	1682	c.1539C>T	c.(1537-1539)gaC>gaT	p.D513D	CCDC149_ENST00000502801.1_3'UTR|CCDC149_ENST00000428116.2_3'UTR|CCDC149_ENST00000504487.1_Silent_p.D513D	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	458								p.D513D(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TCCCTTTGCCGTCTTCCGGTG	0.617																																																1	Substitution - coding silent(1)	kidney(1)											24	25	25					4																	24810062		692	1591	2283	SO:0001819	synonymous_variant	91050				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.1539C>T	4.37:g.24810062G>A			A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	ENST00000389609.4	37	CCDS33967.2																																																																																				0.617	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		A	24810062	G	A	24810062	2	1	142	1	0	0	0	0	0	0	0	1	2785	1136	40	1		1	CCDC149	4	24810062	Silent	SNP	G	TCGA-B0-4815-01A-01D-1501-10		24810062	166344214	22	8471											
LGI2	55203	broad.mit.edu;ucsc.edu	37	4	25032128	25032128	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr4:25032128A>G	ENST00000382114.4	-	1	373	c.188T>C	c.(187-189)aTc>aCc	p.I63T		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	63	LRRNT.					extracellular region (GO:0005576)		p.I63T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGAGCTGATGTCGCCCGG	0.716																																																1	Substitution - Missense(1)	kidney(1)											16	20	19					4																	25032128		2191	4286	6477	SO:0001583	missense	55203			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.188T>C	4.37:g.25032128A>G	ENSP00000371548:p.Ile63Thr		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	CCDS3431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.49|17.49	3.401691|3.401691	0.62288|0.62288	.|.	.|.	ENSG00000153012|ENSG00000153012	ENST00000382114|ENST00000512108	D|.	0.90069|.	-2.61|.	4.23|4.23	4.23|4.23	0.50019|0.50019	.|.	0.184401|.	0.45606|.	D|.	0.000342|.	T|T	0.56891|0.56891	0.2016|0.2016	L|L	0.41824|0.41824	1.3|1.3	0.53005|0.53005	D|D	0.999962|0.999962	P|.	0.34892|.	0.474|.	B|.	0.41088|.	0.347|.	T|T	0.54309|0.54309	-0.8313|-0.8313	10|5	0.17369|.	T|.	0.5|.	-19.8279|-19.8279	12.5958|12.5958	0.56468|0.56468	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	63|.	Q8N0V4|.	LGI2_HUMAN|.	T|P	63|54	ENSP00000371548:I63T|.	ENSP00000371548:I63T|.	I|S	-|-	2|1	0|0	LGI2|LGI2	24641226|24641226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.809000|6.809000	0.75211|0.75211	1.675000|1.675000	0.50919|0.50919	0.459000|0.459000	0.35465|0.35465	ATC|TCA		0.716	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			G	25032128	A	G	25032128	3	3	142	1	0	0	0	0	1	0	0	0	8754	333	12	3	1481	3	LGI2	4	25032128	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10	222066	25032128	166122148	23	8472											
UGT2A3	79799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	69817431	69817431	+	Silent	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr4:69817431G>A	ENST00000251566.4	-	1	78	c.48C>T	c.(46-48)ttC>ttT	p.F16F	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	16					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.F16F(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCCAACACAGAAGAGCTGCA	0.473																																																1	Substitution - coding silent(1)	kidney(1)											59	57	58					4																	69817431		2203	4300	6503	SO:0001819	synonymous_variant	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.48C>T	4.37:g.69817431G>A			Q9H6S4	Silent	SNP	ENST00000251566.4	37	CCDS3525.1																																																																																				0.473	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		A	69817431	G	A	69817431	2	1	142	1	0	0	0	0	0	0	0	1	16960	933	33	2		2	UGT2A3	4	69817431	Silent	SNP	G	TCGA-B0-4815-01A-01D-1501-10	44785303	69817431	121336845	24	8473											
SLC9A3	6550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	482713	482713	+	Silent	SNP	G	G	A	rs150200197		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:482713G>A	ENST00000264938.3	-	7	1315	c.1306C>T	c.(1306-1308)Ctg>Ttg	p.L436L	SLC9A3_ENST00000514375.1_Silent_p.L436L|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	436					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.L436L(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTGACGAACAGGTTCTTCTCC	0.652																																																1	Substitution - coding silent(1)	kidney(1)						G		0,4404		0,0,2202	97	86	90		1306	3.2	1	5	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A3	NM_004174.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		436/835	482713	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	6550				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1306C>T	5.37:g.482713G>A			B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	CCDS3855.1																																																																																				0.652	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		A	482713	G	A	482713	2	1	142	1	0	0	0	0	0	0	0	1	14719	991	35	2		2	SLC9A3	5	482713	Silent	SNP	G	TCGA-B0-4815-01A-01D-1501-10		482713	180432547	25	8474											
MED10	84246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	6372701	6372701	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:6372701A>T	ENST00000255764.3	-	4	433	c.323T>A	c.(322-324)cTg>cAg	p.L108Q		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	108					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L108Q(1)		kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						TTGAATCAACAGGCTTTTAAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											64	70	68					5																	6372701		2203	4300	6503	SO:0001583	missense	84246				CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"NUT2 homolog (S. cerevisiae)"	612382	"mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.323T>A	5.37:g.6372701A>T	ENSP00000255764:p.Leu108Gln		C6G491	Missense_Mutation	SNP	ENST00000255764.3	37	CCDS34134.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829019	0.71258	.	.	ENSG00000133398	ENST00000255764	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.62267	-0.6890	9	0.25106	T	0.35	-19.4188	15.4893	0.75593	1.0:0.0:0.0:0.0	.	108	Q9BTT4	MED10_HUMAN	Q	108	.	ENSP00000255764:L108Q	L	-	2	0	MED10	6425701	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.269000	0.78482	2.254000	0.74563	0.533000	0.62120	CTG		0.393	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	NM_032286		T	6372701	A	T	6372701	3	4	142	1	0	0	0	0	1	0	0	0	9428	188	7	5	88	5	MED10	5	6372701	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10	5889988	6372701	174542559	26	8475											
CDC20B	166979	broad.mit.edu;hgsc.bcm.edu	37	5	54415634	54415634	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:54415634A>C	ENST00000381375.2	-	11	1599	c.1454T>G	c.(1453-1455)tTt>tGt	p.F485C	CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.F443C			Q86Y33	CD20B_HUMAN	cell division cycle 20B	485								p.?(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CTTACCAAAAAACCCACCTGA	0.463																																																1	Unknown(1)	kidney(1)											130	120	123					5																	54415634		2203	4300	6503	SO:0001583	missense	166979			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1454T>G	5.37:g.54415634A>C	ENSP00000370781:p.Phe485Cys		B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751505	0.69533	.	.	ENSG00000164287	ENST00000381375;ENST00000322374	T;T	0.63255	-0.03;-0.03	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.255261	0.27846	N	0.017601	T	0.75459	0.3852	M	0.78285	2.405	0.80722	D	1	D;D	0.63880	0.992;0.993	P;P	0.59948	0.789;0.866	T	0.79412	-0.1814	10	0.87932	D	0	-26.9515	12.5559	0.56252	1.0:0.0:0.0:0.0	.	443;485	Q86Y33-3;Q86Y33	.;CD20B_HUMAN	C	485;443	ENSP00000370781:F485C;ENSP00000315720:F443C	ENSP00000315720:F443C	F	-	2	0	CDC20B	54451391	0.808000	0.29022	0.850000	0.33497	0.996000	0.88848	3.368000	0.52357	1.973000	0.57446	0.533000	0.62120	TTT		0.463	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		C	54415634	A	C	54415634	3	2	142	1	0	0	0	0	1	0	0	0	3062	14	1	5	113	5	CDC20B	5	54415634	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10	48042933	54415634	126499626	27	8476											
IQGAP2	10788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	75932958	75932958	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:75932958C>T	ENST00000274364.6	+	16	2177	c.1880C>T	c.(1879-1881)tCa>tTa	p.S627L	IQGAP2_ENST00000502745.1_Missense_Mutation_p.S180L|IQGAP2_ENST00000379730.3_Missense_Mutation_p.S186L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.S180L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	627	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.S627L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACACCTGAATCATGCTTGTAT	0.388																																																1	Substitution - Missense(1)	kidney(1)											112	108	109					5																	75932958		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1880C>T	5.37:g.75932958C>T	ENSP00000274364:p.Ser627Leu		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551467	0.27739	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.72	0.354	0.16063	WW/Rsp5/WWP (1);	1.226290	0.05738	N	0.600830	T	0.31949	0.0813	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.003;0.001	T	0.16837	-1.0389	10	0.25106	T	0.35	1.8235	1.4396	0.02351	0.2991:0.3987:0.1328:0.1694	.	186;577;180;627	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	L	627;186;600;577;180;180;180;180	ENSP00000274364:S627L;ENSP00000442313:S186L;ENSP00000423672:S600L;ENSP00000421097:S577L;ENSP00000422661:S180L;ENSP00000379535:S180L;ENSP00000426027:S180L	ENSP00000274364:S627L	S	+	2	0	IQGAP2	75968714	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.177000	0.09796	0.327000	0.23409	0.585000	0.79938	TCA		0.388	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		T	75932958	C	T	75932958	3	4	142	1	0	0	0	0	1	0	0	0	7817	838	29	2	1942	2	IQGAP2	5	75932958	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	21517324	75932958	104982302	28	8477											
PKD2L2	27039	broad.mit.edu;hgsc.bcm.edu	37	5	137257415	137257415	+	Silent	SNP	T	T	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:137257415T>G	ENST00000508883.1	+	9	1445	c.1419T>G	c.(1417-1419)acT>acG	p.T473T	PKD2L2_ENST00000290431.5_Silent_p.T473T|PKD2L2_ENST00000508638.1_Intron|PKD2L2_ENST00000350250.4_Silent_p.T439T|PKD2L2_ENST00000502810.1_Silent_p.T451T			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	473					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.T473T(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTTCATCACTTTCATCTTTT	0.294																																																1	Substitution - coding silent(1)	kidney(1)											175	160	165					5																	137257415		1804	4074	5878	SO:0001819	synonymous_variant	27039			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1419T>G	5.37:g.137257415T>G			A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	37																																																																																					0.294	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		G	137257415	T	G	137257415	2	3	142	1	0	0	0	0	0	0	0	1	11970	1596	56	5		5	PKD2L2	5	137257415	Silent	SNP	T	TCGA-B0-4815-01A-01D-1501-10	61324457	137257415	43657845	29	8478											
GABRA1	2554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	161277823	161277823	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr5:161277823A>T	ENST00000428797.2	+	3	362	c.7A>T	c.(7-9)Aaa>Taa	p.K3*	GABRA1_ENST00000437025.2_Nonsense_Mutation_p.K3*|GABRA1_ENST00000420560.1_Nonsense_Mutation_p.K3*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.K3*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.K3*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.K3*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	3					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K3*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CGCGATGAGGAAAAGTCCAGG	0.468																																																1	Substitution - Nonsense(1)	kidney(1)											106	103	104					5																	161277823		2203	4300	6503	SO:0001587	stop_gained	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.7A>T	5.37:g.161277823A>T	ENSP00000393097:p.Lys3*		D3DQK6|Q8N629	Nonsense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	38	7.063126	0.98036	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000521339;ENST00000420560;ENST00000522651;ENST00000444819;ENST00000519621	.	.	.	5.37	4.21	0.49690	.	0.722255	0.13625	N	0.374146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7864	0.40679	0.9219:0.0:0.0781:0.0	.	.	.	.	X	3;3;3;3;9;3;3;3;3	.	ENSP00000023897:K3X	K	+	1	0	GABRA1	161210401	0.998000	0.40836	0.852000	0.33557	0.955000	0.61496	4.315000	0.59172	0.897000	0.36392	0.524000	0.50904	AAA		0.468	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		T	161277823	A	T	161277823	4	4	142	1	0	0	0	0	0	1	0	0	6162	247	9	5	9	5	GABRA1	5	161277823	Nonsense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10	24020408	161277823	19637437	30	8479											
GTPBP2	54676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43592732	43592732	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:43592732A>T	ENST00000307126.5	-	6	772	c.773T>A	c.(772-774)tTc>tAc	p.F258Y	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.F170Y	NM_019096.3	NP_061969.3			GTP binding protein 2									p.F258Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CAGGTCGATGAAGGTGATCAT	0.582																																					GBM(116;405 1620 28302 32150 44768)											1	Substitution - Missense(1)	kidney(1)											199	155	170					6																	43592732		2203	4300	6503	SO:0001583	missense	54676			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.773T>A	6.37:g.43592732A>T	ENSP00000303997:p.Phe258Tyr			Missense_Mutation	SNP	ENST00000307126.5	37	CCDS4903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.786067|4.786067	0.90282|0.90282	.|.	.|.	ENSG00000172432|ENSG00000172432	ENST00000307126;ENST00000307114|ENST00000442748	T;T|.	0.47528|.	0.84;0.84|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Protein synthesis factor, GTP-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83871|0.83871	0.5348|0.5348	H|H	0.94542|0.94542	3.55|3.55	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;0.995|.	D;D|.	0.76575|.	0.988;0.946|.	D|D	0.88909|0.88909	0.3358|0.3358	10|5	0.87932|.	D|.	0|.	-14.0382|-14.0382	15.109|15.109	0.72340|0.72340	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	250;258|.	Q9BX10-4;Q9BX10|.	.;GTPB2_HUMAN|.	Y|T	258;170|224	ENSP00000303997:F258Y;ENSP00000304893:F170Y|.	ENSP00000304893:F170Y|.	F|S	-|-	2|1	0|0	GTPBP2|GTPBP2	43700710|43700710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.339000|9.339000	0.96797|0.96797	1.958000|1.958000	0.56883|0.56883	0.454000|0.454000	0.30748|0.30748	TTC|TCA		0.582	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			T	43592732	A	T	43592732	3	4	142	1	0	0	0	0	1	0	0	0	6882	246	9	5	1063	5	GTPBP2	6	43592732	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10		43592732	127522335	31	8480											
GSTA2	2939	broad.mit.edu;hgsc.bcm.edu	37	6	52622679	52622679	+	Silent	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:52622679G>A	ENST00000493422.1	-	2	222	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	23	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L23L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GCTGCAGCCAGGAGCCACCGG	0.488																																																1	Substitution - coding silent(1)	kidney(1)											111	106	107					6																	52622679		2203	4300	6503	SO:0001819	synonymous_variant	2939			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.67C>T	6.37:g.52622679G>A			Q12759|Q16491|Q9NTY6	Silent	SNP	ENST00000493422.1	37	CCDS4944.1																																																																																				0.488	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		A	52622679	G	A	52622679	2	1	142	1	0	0	0	0	0	0	0	1	6833	991	35	2		2	GSTA2	6	52622679	Silent	SNP	G	TCGA-B0-4815-01A-01D-1501-10	9029947	52622679	118492388	32	8481											
FIG4	9896	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	110053850	110053850	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:110053850A>G	ENST00000230124.3	+	5	581	c.457A>G	c.(457-459)Ata>Gta	p.I153V	FIG4_ENST00000368941.1_Missense_Mutation_p.I76V|FIG4_ENST00000441478.2_Missense_Mutation_p.I7V	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	153					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.I153V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GTATCTACGAATATTTCAAAA	0.274																																																1	Substitution - Missense(1)	kidney(1)											90	91	91					6																	110053850		2201	4293	6494	SO:0001583	missense	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.457A>G	6.37:g.110053850A>G	ENSP00000230124:p.Ile153Val		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877811	0.51801	.	.	ENSG00000112367	ENST00000441478;ENST00000230124;ENST00000454215;ENST00000368941	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.23	5.23	0.72850	Synaptojanin, N-terminal (1);	0.165159	0.51477	D	0.000082	T	0.41880	0.1178	L	0.50993	1.605	0.28455	N	0.916146	P;P	0.36712	0.551;0.566	B;B	0.43990	0.283;0.438	T	0.44757	-0.9307	10	0.54805	T	0.06	-22.1717	15.1108	0.72355	1.0:0.0:0.0:0.0	.	7;153	F5H8L9;Q92562	.;FIG4_HUMAN	V	7;153;132;76	ENSP00000399443:I7V;ENSP00000230124:I153V;ENSP00000412156:I132V;ENSP00000357937:I76V	ENSP00000230124:I153V	I	+	1	0	FIG4	110160543	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.924000	0.92827	1.980000	0.57719	0.477000	0.44152	ATA		0.274	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		G	110053850	A	G	110053850	3	3	142	1	0	0	0	0	1	0	0	0	5890	101	4	3	475	3	FIG4	6	110053850	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10	57431171	110053850	61061217	33	8482											
ROS1	6098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	117665413	117665413	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:117665413A>T	ENST00000368508.3	-	27	4532	c.4334T>A	c.(4333-4335)cTg>cAg	p.L1445Q	ROS1_ENST00000368507.3_Missense_Mutation_p.L1439Q|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1445					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L1445Q(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGCTAGAGACAGAAACGCTTT	0.338			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	2	Substitution - Missense(2)	kidney(2)											172	165	168					6																	117665413		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4334T>A	6.37:g.117665413A>T	ENSP00000357494:p.Leu1445Gln		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894335	0.52121	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.83419	-1.72;-1.7	5.16	5.16	0.70880	.	0.136949	0.33309	N	0.005043	T	0.81093	0.4751	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.84833	0.0803	10	0.87932	D	0	.	11.6564	0.51320	1.0:0.0:0.0:0.0	.	1445	P08922	ROS1_HUMAN	Q	1445;1439	ENSP00000357494:L1445Q;ENSP00000357493:L1439Q	ENSP00000357493:L1439Q	L	-	2	0	ROS1	117772106	0.978000	0.34361	1.000000	0.80357	0.462000	0.32619	5.814000	0.69208	2.077000	0.62373	0.459000	0.35465	CTG		0.338	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117665413	A	T	117665413	3	4	142	1	0	0	0	0	1	0	0	0	13537	188	7	5	2777	5	ROS1	6	117665413	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10	7611563	117665413	53449654	34	8483											
TAAR2	9287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132938953	132938953	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:132938953A>G	ENST00000367931.1	-	2	391	c.392T>C	c.(391-393)aTt>aCt	p.I131T	TAAR2_ENST00000537809.1_Missense_Mutation_p.I86T|TAAR2_ENST00000275191.2_Missense_Mutation_p.I86T			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	131					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.I131T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AAGATGAAAAATGGATGTTAT	0.338																																																1	Substitution - Missense(1)	kidney(1)											72	71	71					6																	132938953		2203	4300	6503	SO:0001583	missense	9287			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.392T>C	6.37:g.132938953A>G	ENSP00000356908:p.Ile131Thr		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.415772	0.62511	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.19806	2.12;2.12;2.12	6.0	6.0	0.97389	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.90922	3.16	0.49582	D	0.999803	D	0.71674	0.998	D	0.69824	0.966	T	0.61491	-0.7052	10	0.87932	D	0	-53.1762	16.5044	0.84266	1.0:0.0:0.0:0.0	.	131	Q9P1P5	TAAR2_HUMAN	T	86;131;86	ENSP00000275191:I86T;ENSP00000356908:I131T;ENSP00000441263:I86T	ENSP00000275191:I86T	I	-	2	0	TAAR2	132980646	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	9.220000	0.95180	2.295000	0.77249	0.528000	0.53228	ATT		0.338	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		G	132938953	A	G	132938953	3	3	142	1	0	0	0	0	1	0	0	0	15495	101	4	3	667	3	TAAR2	6	132938953	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10	15273540	132938953	38176114	35	8484											
MAP3K5	4217	broad.mit.edu;ucsc.edu	37	6	136932484	136932484	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr6:136932484C>A	ENST00000359015.4	-	18	2817	c.2457G>T	c.(2455-2457)aaG>aaT	p.K819N	MAP3K5_ENST00000355845.4_Missense_Mutation_p.K66N	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	819	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.K819N(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTCAGAGATCTTGAGAACAC	0.373																																																1	Substitution - Missense(1)	kidney(1)											156	147	150					6																	136932484		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2457G>T	6.37:g.136932484C>A	ENSP00000351908:p.Lys819Asn		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231407	0.79688	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.39406	1.08;1.08	5.17	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.093758	0.64402	D	0.000001	T	0.69214	0.3086	H	0.98111	4.15	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79019	-0.1974	10	0.87932	D	0	.	10.1232	0.42634	0.0:0.8456:0.0:0.1544	.	899;819	Q59GL6;Q99683	.;M3K5_HUMAN	N	819;66;899	ENSP00000351908:K819N;ENSP00000348104:K66N	ENSP00000348104:K66N	K	-	3	2	MAP3K5	136974177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.093000	0.41710	1.294000	0.44707	0.555000	0.69702	AAG		0.373	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			A	136932484	C	A	136932484	3	1	142	1	0	0	0	0	1	0	0	0	9255	912	32	4	1719	4	MAP3K5	6	136932484	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	3993531	136932484	34182583	36	8485											
MICALL2	79778	broad.mit.edu;ucsc.edu	37	7	1478560	1478560	+	Missense_Mutation	SNP	G	G	A	rs569986164	byFrequency	TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:1478560G>A	ENST00000297508.7	-	10	2213	c.2038C>T	c.(2038-2040)Ctt>Ttt	p.L680F	MICALL2_ENST00000405088.4_Missense_Mutation_p.L468F|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	680	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.L680F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCCGGCCGAAGCCAGTTGTCA	0.672													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16879	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											40	43	42					7																	1478560		2202	4300	6502	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2038C>T	7.37:g.1478560G>A	ENSP00000297508:p.Leu680Phe		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287431	0.40494	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.71222	2.29;-0.55	3.32	3.32	0.38043	.	0.352941	0.16820	N	0.198213	T	0.74928	0.3781	L	0.36672	1.1	0.35744	D	0.818906	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.982	T	0.78023	-0.2366	10	0.44086	T	0.13	.	10.8508	0.46769	0.0:0.0:1.0:0.0	.	680;468	Q8IY33;D3YTD2	MILK2_HUMAN;.	F	468;680	ENSP00000385928:L468F;ENSP00000297508:L680F	ENSP00000297508:L680F	L	-	1	0	MICALL2	1445086	1.000000	0.71417	0.832000	0.32986	0.042000	0.13812	2.074000	0.41529	1.782000	0.52362	0.462000	0.41574	CTT		0.672	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		A	1478560	G	A	1478560	3	1	142	1	0	0	0	0	1	0	0	0	9576	971	34	2	708	2	MICALL2	7	1478560	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10		1478560	157660103	37	8486											
GTF2IRD1	9569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	73973274	73973274	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:73973274C>A	ENST00000265755.3	+	21	2629	c.2236C>A	c.(2236-2238)Ctg>Atg	p.L746M	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.L731M|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L763M|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L731M	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	746					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L746M(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATCGAGGGGCTGCCCCCAGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											84	79	81					7																	73973274		2203	4300	6503	SO:0001583	missense	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2236C>A	7.37:g.73973274C>A	ENSP00000265755:p.Leu746Met		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.219718|4.219718	0.79464|0.79464	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000470715|ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	.|T;T;T;T	.|0.61980	.|0.06;0.06;0.06;0.06	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.152670	.|0.44902	.|D	.|0.000410	T|T	0.64505|0.64505	0.2604|0.2604	N|N	0.20445|0.20445	0.575|0.575	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D;D	.|0.76494	.|0.999;0.961;0.999;0.999	.|D;D;D;D	.|0.91635	.|0.999;0.955;0.996;0.978	T|T	0.65212|0.65212	-0.6223|-0.6223	5|10	.|0.41790	.|T	.|0.15	-13.8141|-13.8141	11.9579|11.9579	0.52991|0.52991	0.0:0.9118:0.0:0.0882|0.0:0.9118:0.0:0.0882	.|.	.|763;731;746;731	.|Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.|.;.;GT2D1_HUMAN;.	D|M	108|746;763;731;731	.|ENSP00000265755:L746M;ENSP00000397566:L763M;ENSP00000408477:L731M;ENSP00000418383:L731M	.|ENSP00000265755:L746M	A|L	+|+	2|1	0|2	GTF2IRD1|GTF2IRD1	73611210|73611210	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	2.820000|2.820000	0.48057|0.48057	2.096000|2.096000	0.63516|0.63516	0.555000|0.555000	0.69702|0.69702	GCT|CTG		0.597	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		A	73973274	C	A	73973274	3	1	142	1	0	0	0	0	1	0	0	0	6870	796	28	4	2314	4	GTF2IRD1	7	73973274	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	72494714	73973274	85165389	38	8487											
RHBDD2	57414	broad.mit.edu;ucsc.edu	37	7	75517559	75517559	+	Silent	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:75517559C>T	ENST00000006777.6	+	4	1122	c.987C>T	c.(985-987)ggC>ggT	p.G329G	RHBDD2_ENST00000428119.1_Silent_p.G188G|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000318622.4_Silent_p.G188G	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	329						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)	p.G329G(1)|p.G188G(1)		kidney(1)|lung(4)|prostate(1)	6						CCTCCCTGGGCATCCAGCCCC	0.652																																																2	Substitution - coding silent(2)	kidney(2)											74	83	80					7																	75517559		1978	4161	6139	SO:0001819	synonymous_variant	57414			AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"rhomboid, veinlet-like 7 (Drosophila)"	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.987C>T	7.37:g.75517559C>T			Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	CCDS43602.1																																																																																				0.652	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		T	75517559	C	T	75517559	2	4	142	1	0	0	0	0	0	0	0	1	13323	697	25	2		2	RHBDD2	7	75517559	Silent	SNP	C	TCGA-B0-4815-01A-01D-1501-10	1544285	75517559	83621104	39	8488											
KRIT1	889	broad.mit.edu;ucsc.edu	37	7	91855963	91855963	+	Silent	SNP	T	T	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:91855963T>C	ENST00000340022.2	-	11	2041	c.1023A>G	c.(1021-1023)ttA>ttG	p.L341L	KRIT1_ENST00000394507.1_Silent_p.L341L|KRIT1_ENST00000412043.2_Silent_p.L341L|KRIT1_ENST00000394503.2_Silent_p.L293L|KRIT1_ENST00000394505.2_Silent_p.L341L	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	341					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.L341L(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCCTTTCTCTAACAATATGC	0.348																																																1	Substitution - coding silent(1)	kidney(1)											105	100	101					7																	91855963		2203	4300	6503	SO:0001819	synonymous_variant	889			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1023A>G	7.37:g.91855963T>C			A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	CCDS5624.1																																																																																				0.348	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			C	91855963	T	C	91855963	2	2	142	1	0	0	0	0	0	0	0	1	8447	1519	53	3		3	KRIT1	7	91855963	Silent	SNP	T	TCGA-B0-4815-01A-01D-1501-10	16338404	91855963	67282700	40	8489											
SLC26A5	375611	hgsc.bcm.edu;ucsc.edu	37	7	103018052	103018052	+	Silent	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:103018052C>A	ENST00000306312.3	-	18	2241	c.1980G>T	c.(1978-1980)ctG>ctT	p.L660L	SLC26A5_ENST00000432958.2_Silent_p.L628L|SLC26A5_ENST00000339444.6_Silent_p.L660L|SLC26A5_ENST00000393727.1_Silent_p.L662L|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Silent_p.L93L|SLC26A5_ENST00000393729.1_Silent_p.L623L|SLC26A5_ENST00000393723.1_Silent_p.L630L|SLC26A5_ENST00000393730.1_Silent_p.L628L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	660	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTACCCCTGCCAGAGTTTTCA	0.438																																																0													63	63	63					7																	103018052		2203	4300	6503	SO:0001819	synonymous_variant	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1980G>T	7.37:g.103018052C>A			Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	CCDS5733.1																																																																																				0.438	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		A	103018052	C	A	103018052	2	1	142	1	0	0	0	0	0	0	0	1	14526	581	21	4		4	SLC26A5	7	103018052	Silent	SNP	C	TCGA-B0-4815-01A-01D-1501-10	11162089	103018052	56120611	41	8490											
MGAM	8972	broad.mit.edu	37	7	141762388	141762388	+	Silent	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr7:141762388C>T	ENST00000549489.2	+	35	4238	c.4143C>T	c.(4141-4143)gcC>gcT	p.A1381A	MGAM_ENST00000475668.2_Silent_p.A1381A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1381	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.A1381A(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTATGTGGCCTTCCCAGACT	0.388																																																3	Substitution - coding silent(3)	kidney(3)											37	32	33					7																	141762388		1797	4041	5838	SO:0001819	synonymous_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4143C>T	7.37:g.141762388C>T			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																				0.388	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			T	141762388	C	T	141762388	2	4	142	1	0	0	0	0	0	0	0	1	9543	668	24	2		2	MGAM	7	141762388	Silent	SNP	C	TCGA-B0-4815-01A-01D-1501-10	38744336	141762388	17376275	42	8491											
NDRG1	10397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	134270635	134270635	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr8:134270635C>T	ENST00000414097.2	-	7	1291	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	NDRG1_ENST00000537882.1_Missense_Mutation_p.G61S|NDRG1_ENST00000323851.7_Missense_Mutation_p.G142S|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000354944.5_Splice_Site|NDRG1_ENST00000522476.1_Missense_Mutation_p.G76S|NDRG1_ENST00000518066.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	142					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)	p.G142S(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGTAGGCGCCTGCTCCTGTT	0.428			T	ERG	prostate																																		Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	1	Substitution - Missense(1)	kidney(1)											67	62	64					8																	134270635		2203	4300	6503	SO:0001583	missense	10397			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.424G>A	8.37:g.134270635C>T	ENSP00000404854:p.Gly142Ser		B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	CCDS34945.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.314422|4.314422	0.81358|0.81358	.|.	.|.	ENSG00000104419|ENSG00000104419	ENST00000354944|ENST00000323851;ENST00000414097;ENST00000537882;ENST00000522476;ENST00000520230;ENST00000518480;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943	.|D;D;T;T;T;T;T;T;T;T	.|0.87571	.|-2.27;-2.27;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.95564	.|0.8558	H|H	0.94306|0.94306	3.52|3.52	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	.|D	.|0.96530	.|0.9392	.|10	.|0.87932	.|D	.|0	.|-36.5119	18.1007|18.1007	0.89505|0.89505	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|142	.|Q92597	.|NDRG1_HUMAN	.|S	-1|142;142;61;76;159;76;142;142;142;153	.|ENSP00000319977:G142S;ENSP00000404854:G142S;ENSP00000437443:G61S;ENSP00000427894:G76S;ENSP00000428345:G159S;ENSP00000428802:G76S;ENSP00000429994:G142S;ENSP00000429272:G142S;ENSP00000428384:G142S;ENSP00000429840:G153S	.|ENSP00000319977:G142S	.|G	-|-	.|1	.|0	NDRG1|NDRG1	134339817|134339817	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.984000|0.984000	0.73092|0.73092	7.187000|7.187000	0.77730|0.77730	2.599000|2.599000	0.87857|0.87857	0.555000|0.555000	0.69702|0.69702	.|GGC		0.428	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			T	134270635	C	T	134270635	3	4	142	1	0	0	0	0	1	0	0	0	10253	681	24	2	800	2	NDRG1	8	134270635	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10		134270635	12093387	43	8492											
KIAA0368	23392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	114184459	114184459	+	Silent	SNP	A	A	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr9:114184459A>T	ENST00000338205.5	-	13	1506	c.1287T>A	c.(1285-1287)acT>acA	p.T429T	KIAA0368_ENST00000259335.4_Silent_p.T607T			Q5VYK3	ECM29_HUMAN	KIAA0368	435					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.T607T(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTATATCCTTAGTGAATAAAT	0.378																																																1	Substitution - coding silent(1)	kidney(1)											73	71	71					9																	114184459		1848	4097	5945	SO:0001819	synonymous_variant	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1287T>A	9.37:g.114184459A>T			O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37																																																																																					0.378	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		T	114184459	A	T	114184459	2	4	142	1	0	0	0	0	0	0	0	1	8173	407	15	5		5	KIAA0368	9	114184459	Silent	SNP	A	TCGA-B0-4815-01A-01D-1501-10		114184459	27028972	44	8493											
ENTPD2	954	broad.mit.edu	37	9	139944970	139944970	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr9:139944970delG	ENST00000355097.2	-	6	842	c.795delC	c.(793-795)tgcfs	p.C265fs	ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000312665.5_Frame_Shift_Del_p.C265fs	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	265					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCTCGGCCAGCAGGGGTGGA	0.642											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													27	24	25					9																	139944970		2197	4296	6493	SO:0001589	frameshift_variant	954			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.795delC	9.37:g.139944970delG	ENSP00000347213:p.Cys265fs	1652	O15464|Q5SPY6|Q5SPY7	Frame_Shift_Del	DEL	ENST00000355097.2	37	CCDS7026.1																																																																																				0.642	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		-	139944970	G	-	139944970	7	5	142	1	0	1	0	1	0	0	0	0	5141	963	34	0	708	0	ENTPD2	9	139944970	Frame_Shift_Del	DEL	G	TCGA-B0-4815-01A-01D-1501-10	25760511	139944970	1268461	45	8494											
C10orf76	79591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103789421	103789421	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr10:103789421A>G	ENST00000370033.4	-	5	507	c.388T>C	c.(388-390)Ttt>Ctt	p.F130L	C10orf76_ENST00000311122.5_Missense_Mutation_p.F130L	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	130						integral component of membrane (GO:0016021)		p.F130L(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GCCTTGTCAAAGCCCATCAGC	0.493																																																2	Substitution - Missense(2)	kidney(2)											146	144	145					10																	103789421		2071	4222	6293	SO:0001583	missense	79591			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.388T>C	10.37:g.103789421A>G	ENSP00000359050:p.Phe130Leu		Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.841866	0.91197	.	.	ENSG00000120029	ENST00000370033;ENST00000311122	T;T	0.65364	-0.15;2.35	5.77	5.77	0.91146	.	0.131902	0.64402	D	0.000001	T	0.74581	0.3735	L	0.56769	1.78	0.80722	D	1	P;D	0.71674	0.894;0.998	P;D	0.76071	0.495;0.987	T	0.70414	-0.4878	10	0.20519	T	0.43	-4.2734	16.1403	0.81517	1.0:0.0:0.0:0.0	.	130;130	Q5T2E6;Q5T2E7	CJ076_HUMAN;.	L	130	ENSP00000359050:F130L;ENSP00000312408:F130L	ENSP00000312408:F130L	F	-	1	0	C10orf76	103779411	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.238000	0.95380	2.210000	0.71456	0.454000	0.30748	TTT		0.493	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		G	103789421	A	G	103789421	3	3	142	1	0	0	0	0	1	0	0	0	1618	72	3	3	1769	3	C10orf76	10	103789421	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10		103789421	31745326	46	8495											
NRXN2	9379	broad.mit.edu;ucsc.edu	37	11	64427892	64427892	+	Silent	SNP	T	T	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr11:64427892T>G	ENST00000377551.1	-	10	2512	c.2301A>C	c.(2299-2301)ggA>ggC	p.G767G	NRXN2_ENST00000265459.6_Silent_p.G767G|NRXN2_ENST00000496291.1_5'Flank|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Silent_p.G760G|NRXN2_ENST00000377559.3_Silent_p.G736G			Q9P2S2	NRX2A_HUMAN	neurexin 2	767	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.G767G(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCATCATGAGTCCGTAGGCCC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											181	136	151					11																	64427892		2201	4297	6498	SO:0001819	synonymous_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2301A>C	11.37:g.64427892T>G			A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																				0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		G	64427892	T	G	64427892	2	3	142	1	0	0	0	0	0	0	0	1	10668	1654	58	5		5	NRXN2	11	64427892	Silent	SNP	T	TCGA-B0-4815-01A-01D-1501-10		64427892	70578624	47	8496											
B3GNT6	192134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	76750646	76750646	+	Silent	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr11:76750646C>T	ENST00000533140.1	+	2	189	c.51C>T	c.(49-51)ctC>ctT	p.L17L	B3GNT6_ENST00000421061.1_Silent_p.L17L|B3GNT6_ENST00000354301.5_Silent_p.L17L			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)	p.L17L(2)		central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						TGGCCTGCCTCCTGGTGGGCG	0.642											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - coding silent(2)	kidney(2)											86	90	89					11																	76750646		2017	4170	6187	SO:0001819	synonymous_variant	192134			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"Beta 3-glycosyltransferases"	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.51C>T	11.37:g.76750646C>T		1170	Q4TTN0	Silent	SNP	ENST00000533140.1	37	CCDS53681.1																																																																																				0.642	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		T	76750646	C	T	76750646	2	4	142	1	0	0	0	0	0	0	0	1	1261	842	30	2		2	B3GNT6	11	76750646	Silent	SNP	C	TCGA-B0-4815-01A-01D-1501-10	12322754	76750646	58255870	48	8497											
CD3E	916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118185183	118185184	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr11:118185183_118185184CC>AT	ENST00000361763.4	+	8	832_833	c.541_542CC>AT	c.(541-543)CCa>ATa	p.P181I	CD3E_ENST00000528600.1_Missense_Mutation_p.P175I	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	181	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)	p.P181T(1)|p.P181L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GGAGAGGCCACCACCTGTTCCC	0.559																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	916			X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"CD molecules"	1674	protein-coding gene	gene with protein product		186830	"CD3e antigen, epsilon polypeptide (TiT3 complex)"				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	Exception_encountered	11.37:g.118185183_118185184delinsAT	ENSP00000354566:p.Pro181Ile		A8K997	Missense_Mutation	SNP	ENST00000361763.4	37	CCDS31685.1																																																																																				0.559	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		AT	118185184	CC	AT	118185183	3	1	142	1	0	0	0	0	1	0	0	0	3013	507	18	4	567	4	CD3E	11	118185183	Missense_Mutation	DNP	CC	TCGA-B0-4815-01A-01D-1501-10	41434537	118185183	16821333	49	8498											
MCAM	4162	broad.mit.edu	37	11	119187759	119187761	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr11:119187759_119187761delCAG	ENST00000264036.4	-	1	65_67	c.51_53delCTG	c.(49-54)tgctgt>tgt	p.17_18CC>C	MCAM_ENST00000392814.1_5'Flank|MCAM_ENST00000530144.2_Intron	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	17					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GACGCGAGGACAGCAGCAGCAGG	0.744																																																0										6,3438		0,6,1716						1.2	1			7	14,6786		2,10,3388	no	coding	MCAM	NM_006500.2		2,16,5104	A1A1,A1R,RR		0.2059,0.1742,0.1952				20,10224				SO:0001651	inframe_deletion	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.51_53delCTG	11.37:g.119187768_119187770delCAG	ENSP00000264036:p.Cys18del		O95812|Q59E86|Q6PHR3|Q6ZTR2	In_Frame_Del	DEL	ENST00000264036.4	37	CCDS31690.1																																																																																				0.744	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			-	119187761	CAG	-	119187759	7	5	142	1	0	1	0	1	0	0	0	0	9370	478	17	0	1951	0	MCAM	11	119187759	In_Frame_Del	DEL	CAG	TCGA-B0-4815-01A-01D-1501-10	1002576	119187759	15818757	50	8499											
TMEM117	84216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	44537365	44537365	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr12:44537365G>A	ENST00000266534.3	+	4	575	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	TMEM117_ENST00000536799.1_Intron|TMEM117_ENST00000551577.1_Missense_Mutation_p.E150K	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	150						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E150K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CATCCGAAATGAAAGTTTCAT	0.403																																																1	Substitution - Missense(1)	kidney(1)											121	120	120					12																	44537365		2203	4300	6503	SO:0001583	missense	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.448G>A	12.37:g.44537365G>A	ENSP00000266534:p.Glu150Lys			Missense_Mutation	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907521	0.92107	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.46451	0.87;0.87	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	L	0.40543	1.245	0.80722	D	1	D;D	0.67145	0.974;0.996	D;D	0.73708	0.953;0.981	T	0.46456	-0.9190	10	0.30078	T	0.28	-22.6354	19.5549	0.95342	0.0:0.0:1.0:0.0	.	150;150	F8VS00;Q9H0C3	.;TM117_HUMAN	K	150	ENSP00000448595:E150K;ENSP00000266534:E150K	ENSP00000266534:E150K	E	+	1	0	TMEM117	42823632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.297000	0.96120	2.716000	0.92895	0.655000	0.94253	GAA		0.403	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		A	44537365	G	A	44537365	3	1	142	1	0	0	0	0	1	0	0	0	16036	1291	45	2	458	2	TMEM117	12	44537365	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10		44537365	89314530	51	8500											
SFRS2IP	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46355548	46355548	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr12:46355548C>T	ENST00000369367.3	-	3	387	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	SCAF11_ENST00000395454.2_Missense_Mutation_p.E52K|SCAF11_ENST00000395453.2_Missense_Mutation_p.E52K|SCAF11_ENST00000419565.2_Missense_Mutation_p.E52K	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	52					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E52K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AAACCAACTTCCTTTTCTAAT	0.353																																																1	Substitution - Missense(1)	kidney(1)											95	92	93					12																	46355548		1852	4101	5953	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.154G>A	12.37:g.46355548C>T	ENSP00000358374:p.Glu52Lys		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	31	5.086846	0.94100	.	.	ENSG00000139218	ENST00000369367;ENST00000419565;ENST00000266589;ENST00000395454;ENST00000395453	T;T;T;T;T	0.66995	-0.24;-0.24;0.78;0.78;0.78	6.16	6.16	0.99307	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.45606	U	0.000341	T	0.79251	0.4414	L	0.55743	1.74	0.33722	D	0.617133	D;D	0.71674	0.998;0.993	D;D	0.71870	0.975;0.968	T	0.78703	-0.2101	10	0.33141	T	0.24	-18.395	20.4702	0.99162	0.0:1.0:0.0:0.0	.	52;52	A8MUK0;Q99590	.;SCAFB_HUMAN	K	52;52;68;52;52	ENSP00000358374:E52K;ENSP00000413036:E52K;ENSP00000266589:E68K;ENSP00000378840:E52K;ENSP00000378839:E52K	ENSP00000266589:E68K	E	-	1	0	SCAF11	44641815	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.741000	0.55090	2.937000	0.99478	0.650000	0.86243	GAA		0.353	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		T	46355548	C	T	46355548	3	4	142	1	0	0	0	0	1	0	0	0	14183	864	30	2	4289	2	SFRS2IP	12	46355548	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	1818183	46355548	87496347	52	8501											
KRT79	338785	broad.mit.edu;ucsc.edu	37	12	53216799	53216799	+	Splice_Site	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr12:53216799C>T	ENST00000330553.5	-	7	1402		c.e7+1			NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79							extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGGGCCACCACCTGCTCTCCT	0.647																																																1	Unknown(1)	kidney(1)											37	35	36					12																	53216799		2203	4300	6503	SO:0001630	splice_region_variant	338785			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1367+1G>A	12.37:g.53216799C>T			Q6P465|Q7Z793	Splice_Site	SNP	ENST00000330553.5	37	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994928	0.74703	.	.	ENSG00000185640	ENST00000330553;ENST00000549255	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8817	0.79208	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT79	51503066	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.573000	0.82421	2.393000	0.81446	0.555000	0.69702	.		0.647	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834	Intron	T	53216799	C	T	53216799	5	4	142	1	0	0	0	0	0	0	1	0	8494	521	18	2	251	2	KRT79	12	53216799	Splice_Site	SNP	C	TCGA-B0-4815-01A-01D-1501-10	6861251	53216799	80635096	53	8502											
ZNF740	283337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53579212	53579212	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr12:53579212T>G	ENST00000416904.3	+	4	646	c.201T>G	c.(199-201)gaT>gaG	p.D67E		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D67E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						GCCGCAAAGATGATGACAGCT	0.443																																																1	Substitution - Missense(1)	kidney(1)											78	78	78					12																	53579212		1888	4117	6005	SO:0001583	missense	283337			BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"Zinc fingers, C2H2-type"	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.201T>G	12.37:g.53579212T>G	ENSP00000409463:p.Asp67Glu		A8K9M9	Missense_Mutation	SNP	ENST00000416904.3	37	CCDS44896.1	.	.	.	.	.	.	.	.	.	.	T	8.302	0.820181	0.16678	.	.	ENSG00000139651	ENST00000416904	T	0.06528	3.29	4.85	-4.11	0.03928	.	0.165226	0.40302	N	0.001129	T	0.02418	0.0074	N	0.08118	0	0.24569	N	0.993936	B	0.27416	0.178	B	0.19666	0.026	T	0.33445	-0.9868	10	0.54805	T	0.06	-3.9385	6.4793	0.22053	0.0:0.3322:0.3857:0.282	.	67	Q8NDX6	ZN740_HUMAN	E	67	ENSP00000409463:D67E	ENSP00000409463:D67E	D	+	3	2	ZNF740	51865479	0.929000	0.31497	0.964000	0.40570	0.946000	0.59487	-0.457000	0.06745	-0.827000	0.04278	-0.609000	0.04063	GAT		0.443	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406890.2	NM_001004304		G	53579212	T	G	53579212	3	3	142	1	0	0	0	0	1	0	0	0	18133	1461	51	5	211	5	ZNF740	12	53579212	Missense_Mutation	SNP	T	TCGA-B0-4815-01A-01D-1501-10	362413	53579212	80272683	54	8503											
P2RX4	5025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121655012	121655012	+	Silent	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr12:121655012C>T	ENST00000337233.4	+	2	518	c.210C>T	c.(208-210)ggC>ggT	p.G70G	P2RX4_ENST00000359949.7_Silent_p.G86G|P2RX4_ENST00000541532.1_Silent_p.G70G|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000543171.1_Intron	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	70					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.G70G(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTCAAGGGCGTGGCTGTGA	0.498																																																1	Substitution - coding silent(1)	kidney(1)											484	294	358					12																	121655012		2203	4300	6503	SO:0001819	synonymous_variant	5025			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.210C>T	12.37:g.121655012C>T			E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	ENST00000337233.4	37	CCDS9214.1																																																																																				0.498	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		T	121655012	C	T	121655012	2	4	142	1	0	0	0	0	0	0	0	1	11344	755	27	1		1	P2RX4	12	121655012	Silent	SNP	C	TCGA-B0-4815-01A-01D-1501-10	68075800	121655012	12196883	55	8504											
PSMB11	122706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23511574	23511574	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr14:23511574C>A	ENST00000408907.2	+	1	199	c.140C>A	c.(139-141)gCc>gAc	p.A47D		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	47					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)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.A47D(3)		endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCCAGACTGGCCCACGGCACC	0.647																																																3	Substitution - Missense(3)	kidney(3)											59	70	66					14																	23511574		2168	4258	6426	SO:0001583	missense	122706				CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.140C>A	14.37:g.23511574C>A	ENSP00000386212:p.Ala47Asp			Missense_Mutation	SNP	ENST00000408907.2	37	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648147	0.67358	.	.	ENSG00000222028	ENST00000408907	T	0.21932	1.98	5.4	5.4	0.78164	.	0.088670	0.46758	D	0.000266	T	0.33789	0.0875	L	0.33093	0.98	0.35751	D	0.819449	D	0.71674	0.998	D	0.67900	0.954	T	0.16247	-1.0409	10	0.19590	T	0.45	0.0968	17.9805	0.89139	0.0:1.0:0.0:0.0	.	47	A5LHX3	PSB11_HUMAN	D	47	ENSP00000386212:A47D	ENSP00000386212:A47D	A	+	2	0	PSMB11	22581414	0.028000	0.19301	1.000000	0.80357	0.765000	0.43378	3.080000	0.50112	2.536000	0.85505	0.563000	0.77884	GCC		0.647	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		A	23511574	C	A	23511574	3	1	142	1	0	0	0	0	1	0	0	0	12681	739	26	4	142	4	PSMB11	14	23511574	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10		23511574	83837966	56	8505											
MAP4K5	11183	hgsc.bcm.edu;ucsc.edu	37	14	50904202	50904202	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr14:50904202delC	ENST00000013125.4	-	25	2192	c.1874delG	c.(1873-1875)tgtfs	p.C626fs		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	626	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ACCTATGCAACATTTGTGGCA	0.343																																																0													85	73	77					14																	50904202		1831	4097	5928	SO:0001589	frameshift_variant	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1874delG	14.37:g.50904202delC	ENSP00000013125:p.Cys626fs		Q8IYF6	Frame_Shift_Del	DEL	ENST00000013125.4	37																																																																																					0.343	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		-	50904202	C	-	50904202	7	5	142	1	0	1	0	1	0	0	0	0	9265	478	17	0	698	0	MAP4K5	14	50904202	Frame_Shift_Del	DEL	C	TCGA-B0-4815-01A-01D-1501-10	27392628	50904202	56445338	57	8506											
SPRED1	161742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	38643311	38643311	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr15:38643311T>C	ENST00000299084.4	+	7	1641	c.781T>C	c.(781-783)Tac>Cac	p.Y261H		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	261	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.Y261H(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTATGCAGACTACAGACATCC	0.378									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)											1	Substitution - Missense(1)	kidney(1)											82	79	80					15																	38643311		2200	4297	6497	SO:0001583	missense	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.781T>C	15.37:g.38643311T>C	ENSP00000299084:p.Tyr261His		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688747	0.68271	.	.	ENSG00000166068	ENST00000299084	D	0.91068	-2.78	5.83	5.83	0.93111	c-Kit-binding domain (1);	0.052973	0.85682	D	0.000000	D	0.94679	0.8284	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95136	0.8259	10	0.87932	D	0	-11.1003	16.1894	0.81975	0.0:0.0:0.0:1.0	.	261	Q7Z699	SPRE1_HUMAN	H	261	ENSP00000299084:Y261H	ENSP00000299084:Y261H	Y	+	1	0	SPRED1	36430603	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.217000	0.71921	0.528000	0.53228	TAC		0.378	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			C	38643311	T	C	38643311	3	2	142	1	0	0	0	0	1	0	0	0	15097	1522	53	3	807	3	SPRED1	15	38643311	Missense_Mutation	SNP	T	TCGA-B0-4815-01A-01D-1501-10		38643311	63888081	58	8507											
AAGAB	79719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	67524205	67524205	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr15:67524205C>T	ENST00000261880.5	-	5	586	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	AAGAB_ENST00000542650.1_Missense_Mutation_p.R52Q|AAGAB_ENST00000561452.1_Missense_Mutation_p.R52Q	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	161					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R161Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TTGGACAATTCGCTTTACTCC	0.373																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											253	240	244					15																	67524205		1919	4136	6055	SO:0001583	missense	79719			AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.482G>A	15.37:g.67524205C>T	ENSP00000261880:p.Arg161Gln		B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732569	0.89482	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.70164	-0.35;-0.46	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.69823	2.125	0.80722	D	1	D	0.58970	0.984	P	0.48189	0.57	T	0.78094	-0.2338	10	0.72032	D	0.01	-12.3836	18.9506	0.92640	0.0:1.0:0.0:0.0	.	161	Q6PD74	AAGAB_HUMAN	Q	161;52	ENSP00000261880:R161Q;ENSP00000440735:R52Q	ENSP00000261880:R161Q	R	-	2	0	AAGAB	65311259	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	7.225000	0.78051	2.699000	0.92147	0.650000	0.86243	CGA		0.373	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		T	67524205	C	T	67524205	3	4	142	1	0	0	0	0	1	0	0	0	15	884	31	1	489	1	AAGAB	15	67524205	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	28880894	67524205	35007187	59	8508											
PGPEP1L	145814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	99511748	99511748	+	Missense_Mutation	SNP	C	C	T	rs369052790		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr15:99511748C>T	ENST00000378919.6	-	5	755	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	PGPEP1L_ENST00000535714.1_Missense_Mutation_p.E130K|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	184							cysteine-type peptidase activity (GO:0008234)	p.E184K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GAGTTTTCTTCGAACTGGGCT	0.532													c|||	1	0.000199681	0.0	0.0014	5008	,	,		17406	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											58	57	57					15																	99511748		1918	4111	6029	SO:0001583	missense	145814				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.550G>A	15.37:g.99511748C>T	ENSP00000368199:p.Glu184Lys		H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	c	3.982	-0.006274	0.07773	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.33654	1.4	4.74	-2.15	0.07102	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	9	0.06757	T	0.87	.	6.2698	0.20949	0.0:0.554:0.1303:0.3157	.	184	A6NFU8	PGPIL_HUMAN	K	184;177	ENSP00000368199:E184K	ENSP00000368199:E184K	E	-	1	0	PGPEP1L	97329271	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.335000	0.07873	-0.712000	0.04988	-1.088000	0.02184	GAA		0.532	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		T	99511748	C	T	99511748	3	4	142	1	0	0	0	0	1	0	0	0	11806	893	31	1	44	1	PGPEP1L	15	99511748	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	31987543	99511748	3019644	60	8509											
ZNF629	23361	hgsc.bcm.edu;ucsc.edu	37	16	30794783	30794783	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr16:30794783G>C	ENST00000262525.4	-	3	1073	c.866C>G	c.(865-867)cCc>cGc	p.P289R		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GCACTTGTAGGGTTTCTCGCC	0.647																																																0													72	81	78					16																	30794783		2187	4295	6482	SO:0001583	missense	23361			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.866C>G	16.37:g.30794783G>C	ENSP00000262525:p.Pro289Arg		Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682643	0.47991	.	.	ENSG00000102870	ENST00000262525	T	0.56444	0.46	5.59	5.59	0.84812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000387	T	0.70745	0.3259	L	0.58428	1.81	0.37456	D	0.915006	D	0.89917	1.0	D	0.97110	1.0	T	0.75348	-0.3349	10	0.87932	D	0	-37.0264	18.352	0.90342	0.0:0.0:1.0:0.0	.	289	Q9UEG4	ZN629_HUMAN	R	289	ENSP00000262525:P289R	ENSP00000262525:P289R	P	-	2	0	ZNF629	30702284	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.622000	0.46427	2.629000	0.89072	0.561000	0.74099	CCC		0.647	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		C	30794783	G	C	30794783	3	2	142	1	0	0	0	0	1	0	0	0	18058	1232	43	4	1747	4	ZNF629	16	30794783	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10		30794783	59559970	61	8510											
PABPN1L	390748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88931430	88931430	+	Splice_Site	SNP	C	C	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr16:88931430C>A	ENST00000419291.2	-	4	577	c.566G>T	c.(565-567)gGt>gTt	p.G189V	PABPN1L_ENST00000411789.2_Splice_Site_p.G189V|PABPN1L_ENST00000378358.4_Splice_Site_p.G189V|PABPN1L_ENST00000427766.1_Intron	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	189	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G189V(2)		kidney(1)	1						CCACACTGACCCCTTGGGGTG	0.657																																																2	Substitution - Missense(2)	kidney(2)											14	17	16					16																	88931430		1922	4106	6028	SO:0001630	splice_region_variant	390748				CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"RNA binding motif (RRM) containing"	37237	protein-coding gene	gene with protein product	"embryonic poly(A) binding protein 2"					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.566+1G>T	16.37:g.88931430C>A			A1L3B3|A2VDI2	Missense_Mutation	SNP	ENST00000419291.2	37	CCDS45547.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920778	0.92249	.	.	ENSG00000205022	ENST00000378358;ENST00000419291;ENST00000411789	D;D;D	0.83591	-1.74;-1.74;-1.74	5.41	5.41	0.78517	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049232	0.85682	D	0.000000	D	0.94932	0.8361	H	0.98089	4.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96726	0.9536	9	.	.	.	.	18.7832	0.91942	0.0:1.0:0.0:0.0	.	189;189;189	A6NDY0;A6NDY0-4;A6NDY0-2	EPAB2_HUMAN;.;.	V	189	ENSP00000367609:G189V;ENSP00000408598:G189V;ENSP00000405259:G189V	.	G	-	2	0	PABPN1L	87458931	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.256000	0.78350	2.537000	0.85549	0.511000	0.50034	GGT;GGT;GGG		0.657	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407502.1	NM_001080487	Missense_Mutation	A	88931430	C	A	88931430	5	1	142	1	0	0	0	0	0	0	1	0	11371	637	22	4	318	4	PABPN1L	16	88931430	Splice_Site	SNP	C	TCGA-B0-4815-01A-01D-1501-10	58136647	88931430	1423323	62	8511											
WDR81	124997	broad.mit.edu;hgsc.bcm.edu	37	17	1633695	1633695	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr17:1633695G>T	ENST00000409644.1	+	2	3689	c.3689G>T	c.(3688-3690)cGc>cTc	p.R1230L	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000309182.5_Missense_Mutation_p.R179L|WDR81_ENST00000437219.2_Missense_Mutation_p.R27L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.R3L	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1230					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R179L(2)|p.R27L(2)|p.R1230L(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAGATGGTCCGCTGGCTGTCT	0.657																																																5	Substitution - Missense(5)	kidney(3)|prostate(2)											31	30	30					17																	1633695		2203	4300	6503	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3689G>T	17.37:g.1633695G>T	ENSP00000386609:p.Arg1230Leu		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026019	0.54683	.	.	ENSG00000167716	ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.49;2.12	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	0.967;1.0;0.983	B;D;P	0.81914	0.435;0.995;0.533	T	0.04360	-1.0957	10	0.23302	T	0.38	.	19.3746	0.94503	0.0:0.0:1.0:0.0	.	27;357;179	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	L	27;27;179;3;1230	ENSP00000395226:R27L;ENSP00000391074:R27L;ENSP00000312074:R179L;ENSP00000407845:R3L;ENSP00000386609:R1230L	ENSP00000312074:R179L	R	+	2	0	WDR81	1580445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.394000	0.97261	2.584000	0.87258	0.563000	0.77884	CGC		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		T	1633695	G	T	1633695	3	4	142	1	0	0	0	0	1	0	0	0	17335	1087	38	4	3757	4	WDR81	17	1633695	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10		1633695	79561515	63	8512											
FBXO39	162517	broad.mit.edu;ucsc.edu	37	17	6684202	6684202	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr17:6684202A>C	ENST00000321535.4	+	2	1145	c.1015A>C	c.(1015-1017)Act>Cct	p.T339P		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	339								p.T339P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CTTCCGGCACACTCTGCAGGT	0.547																																																1	Substitution - Missense(1)	kidney(1)											52	50	50					17																	6684202		2203	4300	6503	SO:0001583	missense	162517			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1015A>C	17.37:g.6684202A>C	ENSP00000321386:p.Thr339Pro			Missense_Mutation	SNP	ENST00000321535.4	37	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331325	0.60853	.	.	ENSG00000177294	ENST00000321535	T	0.54479	0.57	5.02	5.02	0.67125	.	0.190662	0.37053	N	0.002280	T	0.58250	0.2109	L	0.27053	0.805	0.38377	D	0.945028	D	0.71674	0.998	D	0.76071	0.987	T	0.63328	-0.6662	10	0.54805	T	0.06	-19.4195	11.7215	0.51685	1.0:0.0:0.0:0.0	.	339	Q8N4B4	FBX39_HUMAN	P	339	ENSP00000321386:T339P	ENSP00000321386:T339P	T	+	1	0	FBXO39	6624926	0.986000	0.35501	0.994000	0.49952	0.943000	0.58893	1.952000	0.40343	2.188000	0.69820	0.528000	0.53228	ACT		0.547	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		C	6684202	A	C	6684202	3	2	142	1	0	0	0	0	1	0	0	0	5749	159	6	5	1017	5	FBXO39	17	6684202	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10	5050507	6684202	74511008	64	8513											
ACACA	31	broad.mit.edu;ucsc.edu	37	17	35487038	35487038	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr17:35487038A>G	ENST00000394406.2	-	46	5865	c.5675T>C	c.(5674-5676)gTt>gCt	p.V1892A	ACACA_ENST00000353139.5_Missense_Mutation_p.V1929A|ACACA_ENST00000335166.5_Missense_Mutation_p.V1814A|ACACA_ENST00000360679.3_Missense_Mutation_p.V1834A|ACACA_ENST00000361253.5_Missense_Mutation_p.V18A	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1892	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.V1929A(1)|p.V1834A(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GACAGTGAAAACCCCTTCAAA	0.552																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											2	Substitution - Missense(2)	kidney(2)											191	162	172					17																	35487038		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5675T>C	17.37:g.35487038A>G	ENSP00000377928:p.Val1892Ala		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	A	30	5.051732	0.93793	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59;-4.59	5.83	5.83	0.93111	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	M	0.68952	2.095	0.80722	D	1	P;D;D;D	0.63046	0.951;0.992;0.97;0.963	P;D;P;P	0.64595	0.769;0.927;0.858;0.777	D	0.98425	1.0579	10	0.41790	T	0.15	-18.5243	16.1846	0.81942	1.0:0.0:0.0:0.0	.	591;1929;1892;1834	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	A	1929;1834;1892;1916;1814;591;18	ENSP00000344789:V1929A;ENSP00000353898:V1834A;ENSP00000377928:V1892A;ENSP00000335323:V1814A;ENSP00000354565:V18A	ENSP00000335323:V1814A	V	-	2	0	ACACA	32561151	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.339000	0.96797	2.229000	0.72834	0.533000	0.62120	GTT		0.552	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		G	35487038	A	G	35487038	3	3	142	1	0	0	0	0	1	0	0	0	106	43	2	3	1409	3	ACACA	17	35487038	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10	28802836	35487038	45708172	65	8514											
SFRS1	6426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56084396	56084396	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr17:56084396C>T	ENST00000258962.4	-	1	311	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	SRSF1_ENST00000584773.1_Missense_Mutation_p.V35M|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000585096.1_Missense_Mutation_p.V35M|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.V35M	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	35	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V35M(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGTAGAACACGTCCTCAATG	0.602																																																1	Substitution - Missense(1)	kidney(1)											213	162	179					17																	56084396		2203	4300	6503	SO:0001583	missense	6426				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.103G>A	17.37:g.56084396C>T	ENSP00000258962:p.Val35Met		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401948	0.42613	.	.	ENSG00000136450	ENST00000258962	T	0.16597	2.33	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	T	0.15652	0.0377	L	0.28274	0.84	0.80722	D	1	B;B	0.32829	0.386;0.269	B;B	0.29524	0.103;0.041	T	0.02345	-1.1173	10	0.66056	D	0.02	.	19.5057	0.95114	0.0:1.0:0.0:0.0	.	67;35	Q59FA2;Q07955	.;SRSF1_HUMAN	M	35	ENSP00000258962:V35M	ENSP00000258962:V35M	V	-	1	0	SRSF1	53439395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.253000	0.65452	2.906000	0.99361	0.655000	0.94253	GTG		0.602	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		T	56084396	C	T	56084396	3	4	142	1	0	0	0	0	1	0	0	0	14171	536	19	1	713	1	SFRS1	17	56084396	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	20597358	56084396	25110814	66	8515											
ATP8B3	148229	broad.mit.edu	37	19	1792020	1792020	+	Missense_Mutation	SNP	G	G	A	rs185225335		TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr19:1792020G>A	ENST00000310127.6	-	19	2408	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	ATP8B3_ENST00000539485.1_Missense_Mutation_p.R724W|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R677W	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	724					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R724W(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGTGCCCGGTTCTGCAGC	0.677													.|||	1	0.000199681	0.0	0.0	5008	,	,		13422	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											13	14	14					19																	1792020		1939	4121	6060	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2170C>T	19.37:g.1792020G>A	ENSP00000311336:p.Arg724Trp		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	CCDS45901.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.20	3.054941	0.55325	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.81078	0.37;-1.45;-1.45	4.58	4.58	0.56647	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.067746	0.64402	D	0.000010	D	0.93969	0.8069	H	0.98936	4.375	0.38517	D	0.94862	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97456	1.0031	10	0.87932	D	0	.	15.9045	0.79412	0.0:0.0:1.0:0.0	.	724;677	O60423;Q7Z485	AT8B3_HUMAN;.	W	724;724;677	ENSP00000311336:R724W;ENSP00000443574:R724W;ENSP00000437115:R677W	ENSP00000311336:R724W	R	-	1	2	ATP8B3	1743020	0.725000	0.28048	0.990000	0.47175	0.112000	0.19704	2.194000	0.42668	2.089000	0.63090	0.555000	0.69702	CGG		0.677	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		A	1792020	G	A	1792020	3	1	142	1	0	0	0	0	1	0	0	0	1196	1115	39	1	1806	1	ATP8B3	19	1792020	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10		1792020	57336963	67	8516											
ZNF846	162993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9868360	9868360	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr19:9868360G>C	ENST00000397902.2	-	6	1806	c.1393C>G	c.(1393-1395)Ctt>Gtt	p.L465V	ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L465V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TGCATATTAAGATTTGTGGAA	0.443																																																1	Substitution - Missense(1)	kidney(1)											95	104	101					19																	9868360		2148	4275	6423	SO:0001583	missense	162993			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1393C>G	19.37:g.9868360G>C	ENSP00000380999:p.Leu465Val		A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	13.08	2.130862	0.37630	.	.	ENSG00000196605	ENST00000397902	T	0.52983	0.64	2.01	0.947	0.19555	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66713	0.2817	M	0.86740	2.835	0.09310	N	1	D	0.71674	0.998	D	0.68192	0.956	T	0.53599	-0.8416	8	.	.	.	.	6.8284	0.23897	0.1571:0.0:0.8429:0.0	.	465	Q147U1	ZN846_HUMAN	V	465	ENSP00000380999:L465V	.	L	-	1	0	ZNF846	9729360	0.531000	0.26338	0.003000	0.11579	0.247000	0.25773	1.469000	0.35343	0.420000	0.25954	0.456000	0.33151	CTT		0.443	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		C	9868360	G	C	9868360	3	2	142	1	0	0	0	0	1	0	0	0	18197	942	33	4	212	4	ZNF846	19	9868360	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10	8076340	9868360	49260623	68	8517											
KEAP1	9817	broad.mit.edu;ucsc.edu	37	19	10599946	10599946	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr19:10599946A>G	ENST00000171111.5	-	5	2177	c.1630T>C	c.(1630-1632)Tgg>Cgg	p.W544R	KEAP1_ENST00000393623.2_Missense_Mutation_p.W544R|KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	544					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.W544R(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ACGAAAGTCCACGTCTCTGTT	0.602																																																1	Substitution - Missense(1)	kidney(1)											81	61	68					19																	10599946		2203	4300	6503	SO:0001583	missense	9817			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1630T>C	19.37:g.10599946A>G	ENSP00000171111:p.Trp544Arg		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.084002	0.55861	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.96940	-4.18;-4.18	5.73	5.73	0.89815	Kelch-type beta propeller (1);	0.059099	0.64402	D	0.000001	D	0.99121	0.9697	H	0.99863	4.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98579	1.0649	10	0.87932	D	0	.	14.01	0.64490	1.0:0.0:0.0:0.0	.	544	Q14145	KEAP1_HUMAN	R	544	ENSP00000171111:W544R;ENSP00000377245:W544R	ENSP00000171111:W544R	W	-	1	0	KEAP1	10460946	1.000000	0.71417	0.553000	0.28255	0.080000	0.17528	8.845000	0.92153	2.200000	0.70718	0.477000	0.44152	TGG		0.602	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		G	10599946	A	G	10599946	3	3	142	1	0	0	0	0	1	0	0	0	8143	159	6	3	252	3	KEAP1	19	10599946	Missense_Mutation	SNP	A	TCGA-B0-4815-01A-01D-1501-10	731586	10599946	48529037	69	8518											
PRKACA	5566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14204026	14204026	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr19:14204026C>G	ENST00000308677.4	-	10	1150	c.954G>C	c.(952-954)aaG>aaC	p.K318N	SAMD1_ENST00000541938.1_5'Flank|PRKACA_ENST00000589994.1_Missense_Mutation_p.K310N|PRKACA_ENST00000350356.3_5'UTR|SAMD1_ENST00000533683.2_5'Flank|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	318	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)	p.K318N(1)|p.K310N(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GGCCTTTAAACTTTGGTATGA	0.433																																																2	Substitution - Missense(2)	kidney(2)											77	70	72					19																	14204026		2203	4300	6503	SO:0001583	missense	5566				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.954G>C	19.37:g.14204026C>G	ENSP00000309591:p.Lys318Asn		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618780	0.46736	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695	T	0.07908	3.15	4.08	4.08	0.47627	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.48767	D	0.000171	T	0.13927	0.0337	M	0.74467	2.265	0.38676	D	0.952421	B;B	0.21309	0.005;0.054	B;B	0.24541	0.039;0.054	T	0.04870	-1.0921	10	0.59425	D	0.04	.	14.2262	0.65860	0.0:1.0:0.0:0.0	.	318;310	P17612;P17612-2	KAPCA_HUMAN;.	N	318;310;318	ENSP00000309591:K318N	ENSP00000309591:K318N	K	-	3	2	PRKACA	14065026	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.821000	0.55700	2.296000	0.77279	0.423000	0.28283	AAG		0.433	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		G	14204026	C	G	14204026	3	3	142	1	0	0	0	0	1	0	0	0	12502	564	20	4	105	4	PRKACA	19	14204026	Missense_Mutation	SNP	C	TCGA-B0-4815-01A-01D-1501-10	3604080	14204026	44924957	70	8519											
CHD6	84181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	40126106	40126106	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr20:40126106T>C	ENST00000373233.3	-	8	1187	c.1010A>G	c.(1009-1011)gAg>gGg	p.E337G	CHD6_ENST00000373222.3_3'UTR|CHD6_ENST00000309279.7_Missense_Mutation_p.E337G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	337	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.E337G(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTTTTCGAGCTCTTCCATTGT	0.408																																																1	Substitution - Missense(1)	kidney(1)											131	114	119					20																	40126106		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1010A>G	20.37:g.40126106T>C	ENSP00000362330:p.Glu337Gly		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	34|34	5.394622|5.394622	0.96009|0.96009	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	T;T|.	0.74002|.	-0.8;-0.8|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (1);|.	0.000000|.	0.56097|.	D|.	0.000034|.	T|T	0.78805|0.78805	0.4341|0.4341	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	P|.	0.51653|.	0.947|.	P|.	0.60789|.	0.879|.	T|T	0.81475|0.81475	-0.0916|-0.0916	10|5	0.87932|.	D|.	0|.	-22.29|-22.29	15.4125|15.4125	0.74937|0.74937	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	337|.	Q8TD26|.	CHD6_HUMAN|.	G|G	337|40	ENSP00000362330:E337G;ENSP00000308684:E337G|.	ENSP00000308684:E337G|.	E|S	-|-	2|1	0|0	CHD6|CHD6	39559520|39559520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.997000|7.997000	0.88414|0.88414	2.035000|2.035000	0.60131|0.60131	0.533000|0.533000	0.62120|0.62120	GAG|AGC		0.408	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			C	40126106	T	C	40126106	3	2	142	1	0	0	0	0	1	0	0	0	3331	1551	54	3	7257	3	CHD6	20	40126106	Missense_Mutation	SNP	T	TCGA-B0-4815-01A-01D-1501-10		40126106	22899414	71	8520											
SCARF2	91179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	20783904	20783904	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chr22:20783904G>A	ENST00000266214.5	-	8	1447	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	SCARF2_ENST00000405555.3_Missense_Mutation_p.A448V	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	448					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.A448V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GACGAGCAGCGCGCCCGCGCC	0.682																																																1	Substitution - Missense(1)	kidney(1)											54	63	60					22																	20783904		2203	4300	6503	SO:0001583	missense	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1343C>T	22.37:g.20783904G>A	ENSP00000266214:p.Ala448Val		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764861	0.49574	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.29142	1.58;1.58	4.49	4.49	0.54785	.	0.450083	0.20653	N	0.088175	T	0.17066	0.0410	L	0.28274	0.84	0.80722	D	1	D;D	0.54047	0.964;0.964	B;B	0.35607	0.206;0.206	T	0.05767	-1.0865	10	0.13853	T	0.58	-20.81	13.025	0.58810	0.0:0.0:1.0:0.0	.	448;448	E5RFB8;Q96GP6	.;SREC2_HUMAN	V	448	ENSP00000385589:A448V;ENSP00000266214:A448V	ENSP00000266214:A448V	A	-	2	0	SCARF2	19113904	0.980000	0.34600	1.000000	0.80357	0.604000	0.37047	2.960000	0.49161	2.207000	0.71202	0.561000	0.74099	GCG		0.682	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			A	20783904	G	A	20783904	3	1	142	1	0	0	0	0	1	0	0	0	13890	1087	38	1	1285	1	SCARF2	22	20783904	Missense_Mutation	SNP	G	TCGA-B0-4815-01A-01D-1501-10		20783904	30520662	72	8521											
DGKK	139189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	50147057	50147057	+	RNA	SNP	G	G	T			TCGA-B0-4815-01A-01D-1501-10	TCGA-B0-4815-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe091054-41d3-44fa-86a2-fad3ae58423f	6a44057f-671c-497d-b694-512161943617	g.chrX:50147057G>T	ENST00000376025.2	-	0	1127							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.I152I(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTCACAGATGATGGCATCTC	0.443																																																1	Substitution - coding silent(1)	kidney(1)											82	75	77					X																	50147057		1973	4141	6114			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50147057G>T			B2RP91	Silent	SNP	ENST00000376025.2	37																																																																																					0.443	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		T	50147057	G	T	50147057	1	4	142	0	1	0	0	0	0	0	0	0	4474	1280	45	4		4	DGKK	23	50147057	RNA	SNP	G	TCGA-B0-4815-01A-01D-1501-10		50147057	105123503	73	8522											
MACF1	23499	broad.mit.edu;ucsc.edu	37	1	39919424	39919425	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:39919424_39919425GC>AT	ENST00000372915.3	+	87	20572_20573	c.20485_20486GC>AT	c.(20485-20487)GCa>ATa	p.A6829I	MACF1_ENST00000361689.2_Missense_Mutation_p.A4871I|MACF1_ENST00000564288.1_Missense_Mutation_p.A6930I|MACF1_ENST00000539005.1_Missense_Mutation_p.A4741I|MACF1_ENST00000317713.7_Missense_Mutation_p.A4871I|MACF1_ENST00000289893.4_Missense_Mutation_p.A5373I|MACF1_ENST00000567887.1_Missense_Mutation_p.A6967I|MACF1_ENST00000545844.1_Missense_Mutation_p.A4871I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6829					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.A4871T(1)|p.A4871V(1)|p.A5373T(1)|p.A5373V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGTTAACTCAGCAGTAGCCATG	0.446																																																4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	Exception_encountered	1.37:g.39919424_39919425delinsAT	ENSP00000362006:p.Ala6829Ile		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37																																																																																					0.446	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		AT	39919425	GC	AT	39919424	3	1	143	1	0	0	0	0	1	0	0	0	9146	971	34	2	21096	2	MACF1	1	39919424	Missense_Mutation	DNP	GC	TCGA-B0-4816-01A-01D-1501-10		39919424	209331197	1	8523											
KANK4	163782	broad.mit.edu	37	1	62740313	62740313	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:62740313C>T	ENST00000371153.4	-	3	841	c.463G>A	c.(463-465)Gga>Aga	p.G155R	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	155						cytoplasm (GO:0005737)		p.G155R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGGGGCCGTCCACTCCCAAAA	0.642																																																1	Substitution - Missense(1)	kidney(1)											31	36	34					1																	62740313		2203	4300	6503	SO:0001583	missense	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.463G>A	1.37:g.62740313C>T	ENSP00000360195:p.Gly155Arg		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161292	0.57368	.	.	ENSG00000132854	ENST00000371153	T	0.76316	-1.01	4.88	3.02	0.34903	.	0.218384	0.23442	N	0.048121	T	0.71492	0.3346	L	0.56769	1.78	0.26682	N	0.971516	B	0.15930	0.015	B	0.15052	0.012	T	0.60757	-0.7200	10	0.34782	T	0.22	-2.8325	10.6987	0.45913	0.0:0.844:0.0:0.156	.	155	Q5T7N3	KANK4_HUMAN	R	155	ENSP00000360195:G155R	ENSP00000360195:G155R	G	-	1	0	KANK4	62512901	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	0.520000	0.22878	0.670000	0.31165	0.563000	0.77884	GGA		0.642	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		T	62740313	C	T	62740313	3	4	143	1	0	0	0	0	1	0	0	0	7981	603	21	2	2556	2	KANK4	1	62740313	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	22820889	62740313	186510308	2	8524											
WDR78	79819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	67340463	67340463	+	Splice_Site	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:67340463C>T	ENST00000371026.3	-	5	856		c.e5+1		WDR78_ENST00000371022.3_Splice_Site|WDR78_ENST00000431318.1_Splice_Site|WDR78_ENST00000371023.3_Splice_Site	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78						hematopoietic progenitor cell differentiation (GO:0002244)			p.?(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACCATACATACGTTACTTTCT	0.403																																																1	Unknown(1)	kidney(1)											160	153	155					1																	67340463		2203	4300	6503	SO:0001630	splice_region_variant	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.800+1G>A	1.37:g.67340463C>T			A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Splice_Site	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538982	0.45176	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000371022	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2912	0.49252	0.0:0.9151:0.0:0.0849	.	.	.	.	.	-1	.	.	.	-	.	.	WDR78	67113051	0.998000	0.40836	0.914000	0.36105	0.611000	0.37282	4.129000	0.57957	2.467000	0.83353	0.591000	0.81541	.		0.403	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	Intron	T	67340463	C	T	67340463	5	4	143	1	0	0	0	0	0	0	1	0	17333	550	19	1	1854	1	WDR78	1	67340463	Splice_Site	SNP	C	TCGA-B0-4816-01A-01D-1501-10	4600150	67340463	181910158	3	8525											
FUBP1	8880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78425928	78425928	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:78425928G>C	ENST00000370768.2	-	16	1598	c.1517C>G	c.(1516-1518)gCt>gGt	p.A506G	FUBP1_ENST00000370767.1_Missense_Mutation_p.A506G|FUBP1_ENST00000436586.2_Missense_Mutation_p.A527G	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	506	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.A506G(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCCCTGGGGAGCATATGGGGC	0.433			"F, N"		oligodendroglioma																																		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	1	Substitution - Missense(1)	kidney(1)											50	54	52					1																	78425928		2203	4300	6503	SO:0001583	missense	8880			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1517C>G	1.37:g.78425928G>C	ENSP00000359804:p.Ala506Gly		Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	CCDS683.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638188	0.47153	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.32753	1.44;1.44;1.46	5.6	5.6	0.85130	.	0.179148	0.50627	D	0.000117	T	0.15478	0.0373	L	0.40543	1.245	0.40950	D	0.984539	B;B	0.19817	0.039;0.039	B;B	0.17098	0.017;0.01	T	0.06991	-1.0796	10	0.16420	T	0.52	-18.9362	19.6187	0.95647	0.0:0.0:1.0:0.0	.	527;506	B4DT31;Q96AE4	.;FUBP1_HUMAN	G	505;506;506;491;527	ENSP00000359803:A506G;ENSP00000359804:A506G;ENSP00000389536:A527G	ENSP00000294623:A505G	A	-	2	0	FUBP1	78198516	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.046000	0.76592	2.627000	0.88993	0.650000	0.86243	GCT		0.433	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		C	78425928	G	C	78425928	3	2	143	1	0	0	0	0	1	0	0	0	6094	971	34	4	437	4	FUBP1	1	78425928	Missense_Mutation	SNP	G	TCGA-B0-4816-01A-01D-1501-10	11085465	78425928	170824693	4	8526											
LPHN2	23266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	82372717	82372717	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:82372717C>A	ENST00000370728.1	+	6	734	c.89C>A	c.(88-90)gCt>gAt	p.A30D	LPHN2_ENST00000271029.4_Missense_Mutation_p.A30D|LPHN2_ENST00000370730.1_Missense_Mutation_p.A30D|LPHN2_ENST00000370721.1_Missense_Mutation_p.A30D|LPHN2_ENST00000370727.1_Missense_Mutation_p.A30D|LPHN2_ENST00000359929.3_Missense_Mutation_p.A30D|LPHN2_ENST00000319517.6_Missense_Mutation_p.A30D|LPHN2_ENST00000370713.1_Missense_Mutation_p.A30D|LPHN2_ENST00000370717.2_Missense_Mutation_p.A30D|LPHN2_ENST00000370725.1_Missense_Mutation_p.A30D|LPHN2_ENST00000335786.5_Missense_Mutation_p.A30D|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370715.1_Missense_Mutation_p.A30D|LPHN2_ENST00000370723.1_Missense_Mutation_p.A30D|LPHN2_ENST00000394879.1_Missense_Mutation_p.A30D			O95490	LPHN2_HUMAN	latrophilin 2	30					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.A30D(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGCAGAGCAGCTTTACCATTT	0.348																																																2	Substitution - Missense(2)	kidney(2)											59	58	58					1																	82372717		2203	4300	6503	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.89C>A	1.37:g.82372717C>A	ENSP00000359763:p.Ala30Asp		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	C	28.3	4.904321	0.92035	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70282	-0.44;-0.47;-0.45;-0.38;-0.41;-0.37;-0.41;-0.43;-0.42;-0.41;-0.41;-0.37;-0.38;-0.45	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.999;0.994	D;D;D;D	0.81914	0.94;0.995;0.956;0.946	T	0.78658	-0.2118	10	0.87932	D	0	.	19.1389	0.93439	0.0:1.0:0.0:0.0	.	30;30;30;30	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	D	30	ENSP00000359756:A30D;ENSP00000359763:A30D;ENSP00000359765:A30D;ENSP00000359762:A30D;ENSP00000359760:A30D;ENSP00000359758:A30D;ENSP00000353006:A30D;ENSP00000359750:A30D;ENSP00000359748:A30D;ENSP00000322270:A30D;ENSP00000359752:A30D;ENSP00000378344:A30D;ENSP00000271029:A30D;ENSP00000337306:A30D	ENSP00000271029:A30D	A	+	2	0	LPHN2	82145305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.684000	0.84104	2.587000	0.87381	0.557000	0.71058	GCT		0.348	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		A	82372717	C	A	82372717	3	1	143	1	0	0	0	0	1	0	0	0	8918	797	28	4	95	4	LPHN2	1	82372717	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	3946789	82372717	166877904	5	8527											
TGFBR3	7049	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	92184975	92184975	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:92184975C>A	ENST00000525962.1	-	9	1521	c.1460G>T	c.(1459-1461)tGc>tTc	p.C487F	TGFBR3_ENST00000370399.2_Missense_Mutation_p.C486F|TGFBR3_ENST00000212355.4_Missense_Mutation_p.C487F			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	487	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.C487F(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTTGGCCTTGCAGGTAGGATC	0.542																																																1	Substitution - Missense(1)	kidney(1)											155	133	141					1																	92184975		2203	4300	6503	SO:0001583	missense	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1460G>T	1.37:g.92184975C>A	ENSP00000436127:p.Cys487Phe		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842737	0.71488	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.99884	-7.49;-7.49;-7.49;-7.49	5.88	5.88	0.94601	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.961;0.997	D	0.96416	0.9308	10	0.87932	D	0	-15.811	18.4171	0.90574	0.0:1.0:0.0:0.0	.	487;486;487	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	F	487;486;487;486	ENSP00000212355:C487F;ENSP00000359426:C486F;ENSP00000436127:C487F;ENSP00000432638:C486F	ENSP00000212355:C487F	C	-	2	0	TGFBR3	91957563	1.000000	0.71417	0.998000	0.56505	0.500000	0.33767	6.365000	0.73090	2.792000	0.96026	0.557000	0.71058	TGC		0.542	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		A	92184975	C	A	92184975	3	1	143	1	0	0	0	0	1	0	0	0	15828	710	25	4	1127	4	TGFBR3	1	92184975	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	9812258	92184975	157065646	6	8528											
LRIG2	9860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113633959	113633959	+	Silent	SNP	T	T	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:113633959T>C	ENST00000361127.5	+	2	457	c.259T>C	c.(259-261)Ttg>Ctg	p.L87L		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	87					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L87L(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCATAATCGGTTGTCTAACTG	0.299																																																1	Substitution - coding silent(1)	kidney(1)											78	78	78					1																	113633959		2203	4300	6503	SO:0001819	synonymous_variant	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.259T>C	1.37:g.113633959T>C			Q9NSN2	Silent	SNP	ENST00000361127.5	37	CCDS30808.1																																																																																				0.299	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		C	113633959	T	C	113633959	2	2	143	1	0	0	0	0	0	0	0	1	8947	1722	60	3		3	LRIG2	1	113633959	Silent	SNP	T	TCGA-B0-4816-01A-01D-1501-10	21448984	113633959	135616662	7	8529											
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237947442	237947442	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr1:237947442C>T	ENST00000366574.2	+	90	12747	c.12430C>T	c.(12430-12432)Cgc>Tgc	p.R4144C	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R4150C|RYR2_ENST00000542537.1_Missense_Mutation_p.R4128C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4144					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4142C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCGCCAAACGCATCGAGAG	0.498																																																1	Substitution - Missense(1)	kidney(1)											78	79	78					1																	237947442		1920	4143	6063	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12430C>T	1.37:g.237947442C>T	ENSP00000355533:p.Arg4144Cys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237775	0.79800	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97752	-4.52;-4.52;-4.52	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	D	0.98295	0.9435	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.76071	0.891;0.987	D	0.98891	1.0773	10	0.87932	D	0	.	14.3396	0.66617	0.1482:0.8518:0.0:0.0	.	1118;4144	B4DGV4;Q92736	.;RYR2_HUMAN	C	4144;4150;4128;1118	ENSP00000355533:R4144C;ENSP00000353174:R4150C;ENSP00000443798:R4128C	ENSP00000353174:R4150C	R	+	1	0	RYR2	236014065	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.793000	0.55484	2.610000	0.88304	0.655000	0.94253	CGC		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237947442	C	T	237947442	3	4	143	1	0	0	0	0	1	0	0	0	13775	536	19	1	12788	1	RYR2	1	237947442	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	124313483	237947442	11303179	8	8530											
THADA	63892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43805654	43805654	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr2:43805654A>T	ENST00000405006.4	-	9	1165	c.814T>A	c.(814-816)Ttg>Atg	p.L272M	THADA_ENST00000404790.1_Missense_Mutation_p.L272M|THADA_ENST00000405975.2_Missense_Mutation_p.L272M|THADA_ENST00000402360.2_Missense_Mutation_p.L272M|THADA_ENST00000415080.2_De_novo_Start_InFrame|THADA_ENST00000330266.7_5'Flank|THADA_ENST00000403856.1_Missense_Mutation_p.L272M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	272								p.L272M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCACTTACCAAATGAGGAATC	0.348																																																1	Substitution - Missense(1)	kidney(1)											54	54	54					2																	43805654		1825	4084	5909	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.814T>A	2.37:g.43805654A>T	ENSP00000385995:p.Leu272Met		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.301829	0.60195	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.39787	2.54;2.54;1.16;1.13;1.06	4.85	3.69	0.42338	.	0.198010	0.36268	N	0.002690	T	0.58466	0.2124	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.955;1.0	D;D;P;D	0.79108	0.992;0.988;0.596;0.991	T	0.56153	-0.8026	10	0.37606	T	0.19	-0.5067	9.2736	0.37686	0.9178:0.0:0.0822:0.0	.	272;272;272;272	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	M	272	ENSP00000386088:L272M;ENSP00000385995:L272M;ENSP00000385441:L272M;ENSP00000384266:L272M;ENSP00000385469:L272M	ENSP00000349464:L272M	L	-	1	2	THADA	43659158	0.732000	0.28121	0.780000	0.31762	0.792000	0.44763	2.101000	0.41787	0.979000	0.38497	0.533000	0.62120	TTG		0.348	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		T	43805654	A	T	43805654	3	4	143	1	0	0	0	0	1	0	0	0	15845	11	1	5	5167	5	THADA	2	43805654	Missense_Mutation	SNP	A	TCGA-B0-4816-01A-01D-1501-10		43805654	199393719	9	8531											
DQX1	165545	broad.mit.edu;ucsc.edu	37	2	74746760	74746760	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr2:74746760A>C	ENST00000404568.3	-	10	1948	c.1729T>G	c.(1729-1731)Ttg>Gtg	p.L577V	DQX1_ENST00000393951.2_Missense_Mutation_p.L577V	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	577						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.L459V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GGTAGGGACAAGGGAAGTTCA	0.522																																																1	Substitution - Missense(1)	kidney(1)											147	142	144					2																	74746760		2203	4300	6503	SO:0001583	missense	165545			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1729T>G	2.37:g.74746760A>C	ENSP00000384621:p.Leu577Val		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	A	4.037	0.004525	0.07866	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02863	4.13;4.13	5.69	-3.27	0.05048	Domain of unknown function DUF1605 (1);	0.110918	0.38111	N	0.001815	T	0.01287	0.0042	N	0.10707	0.03	0.22745	N	0.998782	B	0.14805	0.011	B	0.23574	0.047	T	0.48043	-0.9069	10	0.15066	T	0.55	-16.6152	6.0856	0.19964	0.298:0.2921:0.41:0.0	.	577	Q8TE96	DQX1_HUMAN	V	577	ENSP00000377523:L577V;ENSP00000384621:L577V	ENSP00000377523:L577V	L	-	1	2	DQX1	74600268	0.001000	0.12720	0.976000	0.42696	0.987000	0.75469	-0.083000	0.11286	-0.167000	0.10871	-0.290000	0.09829	TTG		0.522	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		C	74746760	A	C	74746760	3	2	143	1	0	0	0	0	1	0	0	0	4753	69	3	5	436	5	DQX1	2	74746760	Missense_Mutation	SNP	A	TCGA-B0-4816-01A-01D-1501-10	30941106	74746760	168452613	10	8532											
SF3B1	23451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	198260796	198260796	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr2:198260796C>A	ENST00000335508.6	-	23	3614	c.3523G>T	c.(3523-3525)Gat>Tat	p.D1175Y		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1175					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.D1175Y(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTAAAGCATCTTCAAGTAAC	0.308			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	1	Substitution - Missense(1)	kidney(1)											96	93	94					2																	198260796		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3523G>T	2.37:g.198260796C>A	ENSP00000335321:p.Asp1175Tyr		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.30|17.30	3.354225|3.354225	0.61293|0.61293	.|.	.|.	ENSG00000115524|ENSG00000115524	ENST00000335508|ENST00000424674	T|.	0.66638|.	-0.22|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85923|0.85923	0.5810|0.5810	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.88278|0.88278	0.2934|0.2934	10|5	0.87932|.	D|.	0|.	.|.	19.0887|19.0887	0.93217|0.93217	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1175|.	O75533|.	SF3B1_HUMAN|.	Y|N	1175|190	ENSP00000335321:D1175Y|.	ENSP00000335321:D1175Y|.	D|K	-|-	1|3	0|2	SF3B1|SF3B1	197969041|197969041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.534000|7.534000	0.82004|0.82004	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.308	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			A	198260796	C	A	198260796	3	1	143	1	0	0	0	0	1	0	0	0	14155	913	32	4	403	4	SF3B1	2	198260796	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	123514036	198260796	44938577	11	8533											
ALPI	248	broad.mit.edu;ucsc.edu	37	2	233322764	233322764	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr2:233322764C>A	ENST00000295463.3	+	8	990	c.913C>A	c.(913-915)Ccc>Acc	p.P305T		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	305					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.P305T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACACTGGACCCCTCCCTGAT	0.632																																																1	Substitution - Missense(1)	kidney(1)											82	89	87					2																	233322764		2203	4300	6503	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.913C>A	2.37:g.233322764C>A	ENSP00000295463:p.Pro305Thr		B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828650	0.71258	.	.	ENSG00000163295	ENST00000295463	D	0.99474	-5.97	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98218	4.175	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.96969	0.9707	10	0.87932	D	0	.	16.2794	0.82664	0.0:1.0:0.0:0.0	.	305	P09923	PPBI_HUMAN	T	305	ENSP00000295463:P305T	ENSP00000295463:P305T	P	+	1	0	ALPI	233031008	1.000000	0.71417	0.990000	0.47175	0.578000	0.36192	7.299000	0.78831	2.318000	0.78349	0.561000	0.74099	CCC		0.632	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		A	233322764	C	A	233322764	3	1	143	1	0	0	0	0	1	0	0	0	543	623	22	4	943	4	ALPI	2	233322764	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	35061968	233322764	9876609	12	8534											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52637689	52637689	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr3:52637689C>A	ENST00000296302.7	-	17	2628	c.2627G>T	c.(2626-2628)cGt>cTt	p.R876L	PBRM1_ENST00000356770.4_Missense_Mutation_p.R844L|PBRM1_ENST00000409114.3_Missense_Mutation_p.R891L|PBRM1_ENST00000409767.1_Missense_Mutation_p.R891L|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876L|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876L|PBRM1_ENST00000410007.1_Missense_Mutation_p.R876L|PBRM1_ENST00000394830.3_Missense_Mutation_p.R876L			Q86U86	PB1_HUMAN	polybromo 1	876					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R876L(2)|p.R844L(1)|p.R844H(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAGTTCATCACGAATTTTAAT	0.353			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	4	Substitution - Missense(4)	kidney(3)|NS(1)											68	65	66					3																	52637689		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2627G>T	3.37:g.52637689C>A	ENSP00000296302:p.Arg876Leu		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	34	5.335196	0.95758	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.60171	0.22;0.28;0.21;0.21;0.22;0.25;0.69;0.22;0.28;0.34	5.72	5.72	0.89469	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.79263	0.4416	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;0.999;1.0;1.0;1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-20.1551	20.2504	0.98404	0.0:1.0:0.0:0.0	.	876;876;876;876;891;891;876;844;876	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	L	844;876;876;876;876;876;891;891;876;835	ENSP00000349213:R844L;ENSP00000378307:R876L;ENSP00000296302:R876L;ENSP00000338302:R876L;ENSP00000386593:R876L;ENSP00000386529:R876L;ENSP00000386643:R891L;ENSP00000386601:R891L;ENSP00000387775:R876L;ENSP00000397662:R835L	ENSP00000296302:R876L	R	-	2	0	PBRM1	52612729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.750000	0.85110	2.850000	0.98022	0.650000	0.86243	CGT		0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52637689	C	A	52637689	3	1	143	1	0	0	0	0	1	0	0	0	11493	536	19	4	2329	4	PBRM1	3	52637689	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10		52637689	145384741	13	8535											
BOD1L	259282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	13610222	13610222	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr4:13610222T>A	ENST00000040738.5	-	8	1809	c.1674A>T	c.(1672-1674)gaA>gaT	p.E558D		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	558	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E558D(1)									CTTTAAGGACTTCTTTAATTC	0.333																																																1	Substitution - Missense(1)	kidney(1)											53	51	52					4																	13610222		2202	4296	6498	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1674A>T	4.37:g.13610222T>A	ENSP00000040738:p.Glu558Asp		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881729	0.72294	.	.	ENSG00000038219	ENST00000040738	T	0.09073	3.02	5.35	4.18	0.49190	.	0.000000	0.45126	D	0.000396	T	0.07413	0.0187	M	0.62723	1.935	0.25045	N	0.991171	B	0.32467	0.372	B	0.25614	0.062	T	0.32693	-0.9897	10	0.17832	T	0.49	-7.983	4.9327	0.13925	0.2059:0.0879:0.0:0.7062	.	558	Q8NFC6	BOD1L_HUMAN	D	558	ENSP00000040738:E558D	ENSP00000040738:E558D	E	-	3	2	BOD1L	13219320	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.968000	0.40500	0.883000	0.36040	0.528000	0.53228	GAA		0.333	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		A	13610222	T	A	13610222	3	1	143	1	0	0	0	0	1	0	0	0	1483	1606	56	5	7557	5	BOD1L	4	13610222	Missense_Mutation	SNP	T	TCGA-B0-4816-01A-01D-1501-10		13610222	177544054	14	8536											
SEL1L3	23231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	25819801	25819801	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr4:25819801G>T	ENST00000399878.3	-	9	1645	c.1523C>A	c.(1522-1524)cCc>cAc	p.P508H	SEL1L3_ENST00000502949.1_Missense_Mutation_p.P355H|SEL1L3_ENST00000264868.5_Missense_Mutation_p.P473H	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	508						integral component of membrane (GO:0016021)		p.P508H(1)|p.P355H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GAACAAGCTGGGGTGTTTGTC	0.552																																																2	Substitution - Missense(2)	kidney(2)											74	76	75					4																	25819801		1967	4159	6126	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1523C>A	4.37:g.25819801G>T	ENSP00000382767:p.Pro508His		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	2.175	-0.388908	0.04932	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.14022	2.75;2.75;2.54	5.95	0.64	0.17752	.	0.878737	0.10361	N	0.683956	T	0.06962	0.0177	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44236	-0.9341	10	0.12766	T	0.61	-5.1565	4.7615	0.13110	0.0865:0.4535:0.3155:0.1444	.	508	Q68CR1	SE1L3_HUMAN	H	508;473;355	ENSP00000382767:P508H;ENSP00000264868:P473H;ENSP00000425438:P355H	ENSP00000264868:P473H	P	-	2	0	SEL1L3	25428899	0.390000	0.25213	0.060000	0.19600	0.443000	0.32047	0.132000	0.15891	0.404000	0.25506	0.655000	0.94253	CCC		0.552	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		T	25819801	G	T	25819801	3	4	143	1	0	0	0	0	1	0	0	0	14018	1232	43	4	1939	4	SEL1L3	4	25819801	Missense_Mutation	SNP	G	TCGA-B0-4816-01A-01D-1501-10	12209579	25819801	165334475	15	8537											
RBPJ	3516	broad.mit.edu;ucsc.edu	37	4	26432360	26432360	+	Missense_Mutation	SNP	C	C	G	rs1064382		TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr4:26432360C>G	ENST00000361572.6	+	11	1428	c.1234C>G	c.(1234-1236)Cga>Gga	p.R412G	RBPJ_ENST00000355476.3_Missense_Mutation_p.R398G|RBPJ_ENST00000342295.1_Missense_Mutation_p.R412G|RBPJ_ENST00000342320.4_Missense_Mutation_p.R398G|RBPJ_ENST00000345843.3_Missense_Mutation_p.R397G|RBPJ_ENST00000504907.1_Missense_Mutation_p.P363R|RBPJ_ENST00000507561.1_Missense_Mutation_p.R377G|RBPJ_ENST00000348160.4_Missense_Mutation_p.R399G			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	412	IPT/TIG.				angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R398G(1)|p.R399G(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TTCTGCATTCCGAGAAGGTTG	0.438																																																2	Substitution - Missense(2)	kidney(2)											81	82	82					4																	26432360		2203	4300	6503	SO:0001583	missense	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1234C>G	4.37:g.26432360C>G	ENSP00000354528:p.Arg412Gly		B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	CCDS3437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.91|14.91	2.675893|2.675893	0.47886|0.47886	.|.	.|.	ENSG00000168214|ENSG00000168214	ENST00000504907|ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320;ENST00000504423	T|T;T;T;T;T;T;T;T	0.56941|0.14266	0.43|2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33731|0.33731	0.0873|0.0873	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	B|P;P;P;P	0.24186|0.51351	0.099|0.944;0.931;0.931;0.944	B|P;P;P;P	0.25759|0.55055	0.063|0.767;0.655;0.655;0.767	T|T	0.02411|0.02411	-1.1163|-1.1163	9|10	0.40728|0.25751	T|T	0.16|0.34	-9.992|-9.992	19.3944|19.3944	0.94601|0.94601	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	363|399;398;397;412	D6R927|B4DY22;Q06330-6;Q06330-4;Q06330	.|.;.;.;SUH_HUMAN	R|G	363|397;412;412;399;398;377;398;98	ENSP00000423703:P363R|ENSP00000305815:R397G;ENSP00000345206:R412G;ENSP00000354528:R412G;ENSP00000339699:R399G;ENSP00000347659:R398G;ENSP00000423907:R377G;ENSP00000340124:R398G;ENSP00000421804:R98G	ENSP00000423703:P363R|ENSP00000345206:R412G	P|R	+|+	2|1	0|2	RBPJ|RBPJ	26041458|26041458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.479000|4.479000	0.60236|0.60236	2.598000|2.598000	0.87819|0.87819	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.438	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		G	26432360	C	G	26432360	3	3	143	1	0	0	0	0	1	0	0	0	13167	644	23	4	1339	4	RBPJ	4	26432360	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	612559	26432360	164721916	16	8538											
KLB	152831	broad.mit.edu;hgsc.bcm.edu	37	4	39436298	39436298	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr4:39436298G>T	ENST00000257408.4	+	2	1391	c.1294G>T	c.(1294-1296)Gcc>Tcc	p.A432S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	432	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.A432S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGACACCACGGCCATCTACAT	0.393																																																1	Substitution - Missense(1)	kidney(1)											60	60	60					4																	39436298		2203	4300	6503	SO:0001583	missense	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1294G>T	4.37:g.39436298G>T	ENSP00000257408:p.Ala432Ser		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076910	0.36662	.	.	ENSG00000134962	ENST00000257408	T	0.29142	1.58	6.06	6.06	0.98353	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.159988	0.56097	D	0.000034	T	0.23886	0.0578	L	0.36672	1.1	0.33597	D	0.601819	P;P	0.39809	0.689;0.689	B;B	0.37091	0.241;0.241	T	0.33471	-0.9867	10	0.36615	T	0.2	-16.2588	10.8732	0.46896	0.1388:0.0:0.8612:0.0	.	432;432	B7ZL50;Q86Z14	.;KLOTB_HUMAN	S	432	ENSP00000257408:A432S	ENSP00000257408:A432S	A	+	1	0	KLB	39112693	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	4.575000	0.60908	2.871000	0.98454	0.655000	0.94253	GCC		0.393	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		T	39436298	G	T	39436298	3	4	143	1	0	0	0	0	1	0	0	0	8334	1203	42	4	1300	4	KLB	4	39436298	Missense_Mutation	SNP	G	TCGA-B0-4816-01A-01D-1501-10	13003938	39436298	151717978	17	8539											
PTPN13	5783	broad.mit.edu;ucsc.edu	37	4	87643378	87643378	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr4:87643378A>C	ENST00000411767.2	+	10	1462	c.1399A>C	c.(1399-1401)Aca>Cca	p.T467P	PTPN13_ENST00000436978.1_Missense_Mutation_p.T467P|PTPN13_ENST00000427191.2_Missense_Mutation_p.T467P|PTPN13_ENST00000316707.6_Missense_Mutation_p.T467P|PTPN13_ENST00000511467.1_Missense_Mutation_p.T467P			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	467					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.T467P(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAATATGAAACACCCTTTGA	0.383																																																1	Substitution - Missense(1)	kidney(1)											66	60	62					4																	87643378		1853	4104	5957	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1399A>C	4.37:g.87643378A>C	ENSP00000407249:p.Thr467Pro		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.569216	0.45798	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.51574	0.7;0.72;0.79;0.7;0.72	4.79	3.59	0.41128	.	0.500057	0.16583	N	0.208135	T	0.48607	0.1509	L	0.51422	1.61	0.27696	N	0.945965	D;P;P;P	0.56968	0.978;0.82;0.725;0.82	P;P;B;P	0.52646	0.705;0.527;0.424;0.628	T	0.34675	-0.9819	10	0.35671	T	0.21	.	7.0731	0.25189	0.7469:0.0:0.2531:0.0	.	467;467;467;467	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	P	467;467;467;467;467;435	ENSP00000408368:T467P;ENSP00000394794:T467P;ENSP00000322675:T467P;ENSP00000407249:T467P;ENSP00000426626:T467P	ENSP00000322675:T467P	T	+	1	0	PTPN13	87862402	0.997000	0.39634	0.999000	0.59377	0.988000	0.76386	0.728000	0.26013	0.754000	0.32968	0.460000	0.39030	ACA		0.383	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			C	87643378	A	C	87643378	3	2	143	1	0	0	0	0	1	0	0	0	12788	43	2	5	1433	5	PTPN13	4	87643378	Missense_Mutation	SNP	A	TCGA-B0-4816-01A-01D-1501-10	48207080	87643378	103510898	18	8540											
SPEF2	79925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	35759818	35759818	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:35759818T>C	ENST00000356031.3	+	25	3771	c.3617T>C	c.(3616-3618)cTt>cCt	p.L1206P	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.L1201P	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1206					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.L1206P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAAGCCAGCTTAGGTAAGGC	0.348																																																1	Substitution - Missense(1)	kidney(1)											85	83	84					5																	35759818		1849	4078	5927	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3617T>C	5.37:g.35759818T>C	ENSP00000348314:p.Leu1206Pro		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.069990	0.36566	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.29142	1.58;1.58	5.33	-0.0587	0.13796	.	1.148590	0.06373	N	0.713787	T	0.33294	0.0858	M	0.65975	2.015	0.09310	N	1	P;P	0.47677	0.899;0.697	P;B	0.44990	0.466;0.201	T	0.31024	-0.9958	10	0.35671	T	0.21	.	5.1804	0.15158	0.5629:0.0847:0.0:0.3523	.	1201;1206	Q9C093-2;Q9C093	.;SPEF2_HUMAN	P	1206;1201	ENSP00000348314:L1206P;ENSP00000412125:L1201P	ENSP00000348314:L1206P	L	+	2	0	SPEF2	35795575	0.003000	0.15002	0.144000	0.22314	0.016000	0.09150	0.395000	0.20850	0.385000	0.24970	-0.336000	0.08194	CTT		0.348	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		C	35759818	T	C	35759818	3	2	143	1	0	0	0	0	1	0	0	0	15040	1609	56	3	3736	3	SPEF2	5	35759818	Missense_Mutation	SNP	T	TCGA-B0-4816-01A-01D-1501-10		35759818	145155442	19	8541											
RAB3C	115827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	57913493	57913493	+	Silent	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:57913493G>A	ENST00000282878.4	+	2	217	c.48G>A	c.(46-48)agG>agA	p.R16R		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	16					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.R16R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AAGATGCCAGGTACGGCCAGA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											72	68	70					5																	57913493		2203	4300	6503	SO:0001819	synonymous_variant	115827			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"RAB, member RAS oncogene"	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.48G>A	5.37:g.57913493G>A				Silent	SNP	ENST00000282878.4	37	CCDS3976.1																																																																																				0.398	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		A	57913493	G	A	57913493	2	1	143	1	0	0	0	0	0	0	0	1	12939	1252	44	2		2	RAB3C	5	57913493	Silent	SNP	G	TCGA-B0-4816-01A-01D-1501-10	22153675	57913493	123001767	20	8542											
NSA2	10412	broad.mit.edu;hgsc.bcm.edu	37	5	74069762	74069762	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:74069762G>A	ENST00000296802.5	+	5	961	c.592G>A	c.(592-594)Ggt>Agt	p.G198S		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	198					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.G198S(1)		breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ACCAATACTTGGTGTAAAGAA	0.413																																																1	Substitution - Missense(1)	kidney(1)											105	93	97					5																	74069762		2203	4300	6503	SO:0001583	missense	10412			AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"hairy cell leukemia protein 1", "TGF beta-inducible nuclear protein 1"	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.592G>A	5.37:g.74069762G>A	ENSP00000296802:p.Gly198Ser			Missense_Mutation	SNP	ENST00000296802.5	37	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058709	0.76074	.	.	ENSG00000164346	ENST00000296802	T	0.29917	1.55	5.4	5.4	0.78164	.	0.046129	0.85682	D	0.000000	T	0.26666	0.0652	L	0.37630	1.12	0.80722	D	1	B	0.34255	0.445	B	0.32289	0.143	T	0.03278	-1.1053	10	0.18276	T	0.48	.	19.5387	0.95266	0.0:0.0:1.0:0.0	.	198	O95478	NSA2_HUMAN	S	198	ENSP00000296802:G198S	ENSP00000296802:G198S	G	+	1	0	NSA2	74105518	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.345000	0.97053	2.686000	0.91538	0.555000	0.69702	GGT		0.413	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		A	74069762	G	A	74069762	3	1	143	1	0	0	0	0	1	0	0	0	10670	1348	47	2	610	2	NSA2	5	74069762	Missense_Mutation	SNP	G	TCGA-B0-4816-01A-01D-1501-10	16156269	74069762	106845498	21	8543											
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127700355	127700355	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:127700355C>A	ENST00000508053.1	-	24	3340	c.2366G>T	c.(2365-2367)gGt>gTt	p.G789V	FBN2_ENST00000262464.4_Missense_Mutation_p.G789V|FBN2_ENST00000511489.1_5'Flank|FBN2_ENST00000508989.1_Missense_Mutation_p.G756V			P35556	FBN2_HUMAN	fibrillin 2	789	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G789V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACGGTAACTACCACGTAAGTT	0.338																																																2	Substitution - Missense(2)	kidney(2)											95	89	91					5																	127700355		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2366G>T	5.37:g.127700355C>A	ENSP00000424571:p.Gly789Val		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720084	0.89205	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99557	-6.16;-6.16;-6.16	4.43	4.43	0.53597	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.99796	0.9913	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.87578	0.998;0.935	D	0.96801	0.9589	10	0.87932	D	0	.	18.3499	0.90335	0.0:1.0:0.0:0.0	.	756;789	D6RJI3;P35556	.;FBN2_HUMAN	V	789;789;756	ENSP00000262464:G789V;ENSP00000424571:G789V;ENSP00000425596:G756V	ENSP00000262464:G789V	G	-	2	0	FBN2	127728254	0.998000	0.40836	0.995000	0.50966	0.976000	0.68499	7.609000	0.82925	2.756000	0.94617	0.655000	0.94253	GGT		0.338	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127700355	C	A	127700355	3	1	143	1	0	0	0	0	1	0	0	0	5705	507	18	4	6564	4	FBN2	5	127700355	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	53630593	127700355	53214905	22	8544											
RAD50	10111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131894990	131894990	+	Silent	SNP	T	T	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:131894990T>C	ENST00000265335.6	+	2	531	c.144T>C	c.(142-144)tgT>tgC	p.C48C	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	48					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.C48C(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATTGAATGTCTAAAATATA	0.284								Homologous recombination																																								1	Substitution - coding silent(1)	kidney(1)											45	50	49					5																	131894990		2201	4283	6484	SO:0001819	synonymous_variant	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.144T>C	5.37:g.131894990T>C			B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	CCDS34233.1																																																																																				0.284	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		C	131894990	T	C	131894990	2	2	143	1	0	0	0	0	0	0	0	1	12990	1673	58	3		3	RAD50	5	131894990	Silent	SNP	T	TCGA-B0-4816-01A-01D-1501-10	4194635	131894990	49020270	23	8545											
FAT2	2196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150948482	150948482	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr5:150948482G>A	ENST00000261800.5	-	1	23	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A4V(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCAGCAGGGCAATAGTCAT	0.478																																																1	Substitution - Missense(1)	kidney(1)											64	67	66					5																	150948482		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11C>T	5.37:g.150948482G>A	ENSP00000261800:p.Ala4Val		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	1.585	-0.530651	0.04112	.	.	ENSG00000086570	ENST00000261800	T	0.70282	-0.47	5.46	3.31	0.37934	.	0.804157	0.11318	N	0.576313	T	0.47710	0.1460	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27502	-1.0072	10	0.09084	T	0.74	.	8.4325	0.32766	0.3312:0.0:0.6688:0.0	.	4	Q9NYQ8	FAT2_HUMAN	V	4	ENSP00000261800:A4V	ENSP00000261800:A4V	A	-	2	0	FAT2	150928675	0.065000	0.20965	0.980000	0.43619	0.880000	0.50808	-0.001000	0.12947	1.274000	0.44362	0.561000	0.74099	GCC		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150948482	G	A	150948482	3	1	143	1	0	0	0	0	1	0	0	0	5692	1203	42	2	13130	2	FAT2	5	150948482	Missense_Mutation	SNP	G	TCGA-B0-4816-01A-01D-1501-10	19053492	150948482	29966778	24	8546											
FKBPL	63943	broad.mit.edu;ucsc.edu	37	6	32097100	32097100	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr6:32097100T>C	ENST00000375156.3	-	2	728	c.458A>G	c.(457-459)gAg>gGg	p.E153G	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	153					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.E153G(1)									CCAAGTTTCCTCCCTCCATGG	0.592																																																1	Substitution - Missense(1)	kidney(1)											195	209	204					6																	32097100		2203	4300	6503	SO:0001583	missense	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.458A>G	6.37:g.32097100T>C	ENSP00000364298:p.Glu153Gly		A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.546444	0.45383	.	.	ENSG00000204315	ENST00000375156	D	0.81739	-1.53	5.23	5.23	0.72850	.	0.521070	0.18963	N	0.126342	T	0.57475	0.2056	N	0.24115	0.695	0.33773	D	0.62327	B	0.27498	0.18	B	0.25405	0.06	T	0.63492	-0.6625	10	0.62326	D	0.03	-10.9275	13.1165	0.59303	0.0:0.0:0.0:1.0	.	153	Q9UIM3	FKBPL_HUMAN	G	153	ENSP00000364298:E153G	ENSP00000364298:E153G	E	-	2	0	FKBPL	32205078	0.950000	0.32346	0.920000	0.36463	0.945000	0.59286	1.784000	0.38674	2.202000	0.70862	0.379000	0.24179	GAG		0.592	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			C	32097100	T	C	32097100	3	2	143	1	0	0	0	0	1	0	0	0	5918	1551	54	3	595	3	FKBPL	6	32097100	Missense_Mutation	SNP	T	TCGA-B0-4816-01A-01D-1501-10		32097100	139017967	25	8547											
PKHD1	5314	hgsc.bcm.edu;ucsc.edu	37	6	51777241	51777241	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr6:51777241T>A	ENST00000371117.3	-	38	6530	c.6255A>T	c.(6253-6255)aaA>aaT	p.K2085N	PKHD1_ENST00000340994.4_Missense_Mutation_p.K2085N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2085					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTTGGCACCTTTAACACCTG	0.488																																																0													183	167	172					6																	51777241		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6255A>T	6.37:g.51777241T>A	ENSP00000360158:p.Lys2085Asn		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	6.910	0.537588	0.13188	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92397	-3.03;-3.03	5.99	3.55	0.40652	.	0.746945	0.12817	N	0.436712	T	0.66137	0.2759	N	0.08118	0	0.09310	N	1	B;B;B	0.24426	0.001;0.103;0.029	B;B;B	0.26094	0.002;0.066;0.019	T	0.58261	-0.7667	10	0.20519	T	0.43	.	6.0887	0.19983	0.0:0.083:0.1634:0.7537	.	2085;2085;2085	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	N	2085	ENSP00000360158:K2085N;ENSP00000341097:K2085N	ENSP00000341097:K2085N	K	-	3	2	PKHD1	51885200	0.136000	0.22515	0.051000	0.19133	0.173000	0.22820	1.317000	0.33631	0.483000	0.27608	0.533000	0.62120	AAA		0.488	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51777241	T	A	51777241	3	1	143	1	0	0	0	0	1	0	0	0	11973	1606	56	5	6128	5	PKHD1	6	51777241	Missense_Mutation	SNP	T	TCGA-B0-4816-01A-01D-1501-10	19680141	51777241	119337826	26	8548											
MTO1	25821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	74192199	74192199	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr6:74192199A>T	ENST00000370300.4	+	10	1658	c.1568A>T	c.(1567-1569)cAa>cTa	p.Q523L	MTO1_ENST00000415954.2_Missense_Mutation_p.Q538L|MTO1_ENST00000498286.1_Missense_Mutation_p.Q498L|MTO1_ENST00000370305.1_Missense_Mutation_p.Q449L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	523					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)	p.Q523L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGTGTGTCCCAACAACGATAT	0.358																																																1	Substitution - Missense(1)	kidney(1)											87	88	88					6																	74192199		2203	4300	6503	SO:0001583	missense	25821			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1568A>T	6.37:g.74192199A>T	ENSP00000359323:p.Gln523Leu		B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687162	0.48097	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300;ENST00000521156	.	.	.	5.37	1.57	0.23409	.	0.572974	0.19931	N	0.102854	T	0.17916	0.0430	M	0.64404	1.975	0.23689	N	0.997109	P;P;B;B	0.36412	0.552;0.493;0.082;0.084	B;B;B;B	0.31614	0.133;0.109;0.133;0.063	T	0.07520	-1.0768	9	0.87932	D	0	-2.9502	7.6566	0.28379	0.6531:0.2764:0.0705:0.0	.	538;401;498;523	Q9Y2Z2-6;Q9Y2Z2-2;Q9Y2Z2-4;Q9Y2Z2	.;.;.;MTO1_HUMAN	L	538;498;401;449;523;53	.	ENSP00000350506:Q401L	Q	+	2	0	MTO1	74248920	1.000000	0.71417	0.982000	0.44146	0.924000	0.55760	2.338000	0.43957	0.406000	0.25560	0.378000	0.23410	CAA		0.358	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		T	74192199	A	T	74192199	3	4	143	1	0	0	0	0	1	0	0	0	9955	130	5	5	1730	5	MTO1	6	74192199	Missense_Mutation	SNP	A	TCGA-B0-4816-01A-01D-1501-10	22414958	74192199	96922868	27	8549											
SEC63	11231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	108204350	108204350	+	Splice_Site	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr6:108204350C>T	ENST00000369002.4	-	17	1854	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	559					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.E559K(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ACTGCAGCTTCCTAAAAGGGA	0.363																																																1	Substitution - Missense(1)	kidney(1)											99	86	91					6																	108204350		2203	4300	6503	SO:0001630	splice_region_variant	11231			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1675-1G>A	6.37:g.108204350C>T			O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187350	0.38609	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.70399	-0.48	5.15	5.15	0.70609	Sec63 domain (2);	0.179695	0.64402	D	0.000013	T	0.39253	0.1071	L	0.27053	0.805	0.80722	D	1	B;P	0.34522	0.007;0.455	B;B	0.27076	0.004;0.076	T	0.50524	-0.8818	10	0.07813	T	0.8	-10.7889	18.9898	0.92786	0.0:1.0:0.0:0.0	.	559;559	Q9UGP8;B3KQF0	SEC63_HUMAN;.	K	559;210	ENSP00000357998:E559K	ENSP00000357998:E559K	E	-	1	0	SEC63	108311043	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	4.776000	0.62354	2.555000	0.86185	0.650000	0.86243	GAA		0.363	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214	Missense_Mutation	T	108204350	C	T	108204350	5	4	143	1	0	0	0	0	0	0	1	0	14011	869	30	2	627	2	SEC63	6	108204350	Splice_Site	SNP	C	TCGA-B0-4816-01A-01D-1501-10	34012151	108204350	62910717	28	8550											
HOXA2	3199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	27140542	27140542	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr7:27140542C>T	ENST00000222718.5	-	2	1244	c.934G>A	c.(934-936)Gac>Aac	p.D312N	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	312					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D312N(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TCAGGACTGTCATTGTTTAGG	0.498																																																1	Substitution - Missense(1)	kidney(1)											89	87	87					7																	27140542		2203	4300	6503	SO:0001583	missense	3199				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"Homeoboxes / ANTP class : HOXL subclass"	5103	protein-coding gene	gene with protein product		604685	"homeo box A2"	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.934G>A	7.37:g.27140542C>T	ENSP00000222718:p.Asp312Asn		A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334481	0.24253	.	.	ENSG00000105996	ENST00000222718	T	0.09723	2.95	4.89	4.89	0.63831	.	0.095718	0.64402	D	0.000001	T	0.10165	0.0249	L	0.34521	1.04	0.47819	D	0.999528	B	0.09022	0.002	B	0.09377	0.004	T	0.17930	-1.0353	10	0.16420	T	0.52	.	18.0474	0.89337	0.0:1.0:0.0:0.0	.	312	O43364	HXA2_HUMAN	N	312	ENSP00000222718:D312N	ENSP00000222718:D312N	D	-	1	0	HOXA2	27107067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.491000	0.66887	2.415000	0.81967	0.655000	0.94253	GAC		0.498	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			T	27140542	C	T	27140542	3	4	143	1	0	0	0	0	1	0	0	0	7294	826	29	2	200	2	HOXA2	7	27140542	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10		27140542	131998121	29	8551											
SND1	27044	hgsc.bcm.edu;ucsc.edu	37	7	127343341	127343341	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr7:127343341delC	ENST00000354725.3	+	7	998	c.804delC	c.(802-804)tgcfs	p.C268fs		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	268	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TGGAGAGCTGCCACAACCAGA	0.493																																																0													77	70	72					7																	127343341		2203	4300	6503	SO:0001589	frameshift_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.804delC	7.37:g.127343341delC	ENSP00000346762:p.Cys268fs		Q13122|Q96AG0	Frame_Shift_Del	DEL	ENST00000354725.3	37	CCDS34747.1																																																																																				0.493	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		-	127343341	C	-	127343341	7	5	143	1	0	1	0	1	0	0	0	0	14850	747	26	0	830	0	SND1	7	127343341	Frame_Shift_Del	DEL	C	TCGA-B0-4816-01A-01D-1501-10	100202799	127343341	31795322	30	8552											
RBM28	55131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127950874	127950874	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr7:127950874C>G	ENST00000223073.2	-	19	2370	c.2256G>C	c.(2254-2256)aaG>aaC	p.K752N	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Missense_Mutation_p.K611N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	752					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K752N(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ATTTGCTCCTCTTTGCAAGAG	0.483																																																1	Substitution - Missense(1)	kidney(1)											175	170	172					7																	127950874		2203	4300	6503	SO:0001583	missense	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.2256G>C	7.37:g.127950874C>G	ENSP00000223073:p.Lys752Asn		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466183	0.63625	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.25579	2.75;1.79	5.6	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.71581	2.175	0.48632	D	0.999686	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.959;0.991;0.988	T	0.36163	-0.9759	10	0.72032	D	0.01	-19.1546	7.6175	0.28167	0.0:0.7422:0.0:0.2578	.	611;752;611	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	N	752;611	ENSP00000223073:K752N;ENSP00000390517:K611N	ENSP00000223073:K752N	K	-	3	2	RBM28	127738110	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	0.879000	0.28146	0.735000	0.32537	-0.258000	0.10820	AAG		0.483	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		G	127950874	C	G	127950874	3	3	143	1	0	0	0	0	1	0	0	0	13134	912	32	4	27	4	RBM28	7	127950874	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	607533	127950874	31187789	31	8553											
FAM160B2	64760	broad.mit.edu;ucsc.edu	37	8	21951993	21951994	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr8:21951993_21951994delTG	ENST00000289921.7	+	2	134_135	c.88_89delTG	c.(88-90)tggfs	p.W30fs		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	30										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CGTGGAGCACTGGAAGGGCATC	0.668																																																0																																										SO:0001589	frameshift_variant	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.88_89delTG	8.37:g.21951993_21951994delTG	ENSP00000289921:p.Trp30fs		B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Frame_Shift_Del	DEL	ENST00000289921.7	37	CCDS6021.2																																																																																				0.668	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			-	21951994	TG	-	21951993	7	5	143	1	0	1	0	1	0	0	0	0	5473	1580	55	0	94	0	FAM160B2	8	21951993	Frame_Shift_Del	DEL	TG	TCGA-B0-4816-01A-01D-1501-10		21951993	124412029	32	8554											
NDUFB6	4712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32571008	32571008	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr9:32571008C>A	ENST00000379847.3	-	2	324	c.223G>T	c.(223-225)Gta>Tta	p.V75L	NDUFB6_ENST00000350021.2_Missense_Mutation_p.V75L	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	75					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 membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.V75L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		GGTACAAGTACATGAGTGAAA	0.308																																																1	Substitution - Missense(1)	kidney(1)											52	52	52					9																	32571008		2203	4296	6499	SO:0001583	missense	4712			AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"Mitochondrial respiratory chain complex / Complex I"	7701	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase beta subunit, 6", "NADH-ubiquinone oxidoreductase B17 subunit", "complex I, mitochondrial respiratory chain, B17 subunit"	603322	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.223G>T	9.37:g.32571008C>A	ENSP00000369176:p.Val75Leu		A8K0Y7|Q5VYT2|Q6IB84	Missense_Mutation	SNP	ENST00000379847.3	37	CCDS6528.1	.	.	.	.	.	.	.	.	.	.	C	0.783	-0.761689	0.02996	.	.	ENSG00000165264	ENST00000379847;ENST00000350021	.	.	.	5.41	-1.24	0.09435	.	0.448463	0.24052	N	0.041993	T	0.22003	0.0530	L	0.33189	0.99	0.22266	N	0.999246	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.08994	-1.0695	9	0.20519	T	0.43	-24.0646	2.8638	0.05595	0.1146:0.4224:0.1035:0.3595	.	75;75	Q5VYT2;O95139	.;NDUB6_HUMAN	L	75	.	ENSP00000297983:V75L	V	-	1	0	NDUFB6	32561008	0.606000	0.26949	0.845000	0.33349	0.001000	0.01503	-0.105000	0.10907	-0.066000	0.12998	-1.916000	0.00518	GTA		0.308	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052001.1	NM_002493		A	32571008	C	A	32571008	3	1	143	1	0	0	0	0	1	0	0	0	10287	478	17	4	175	4	NDUFB6	9	32571008	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10		32571008	108642423	33	8555											
ZNF169	169841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	97062172	97062172	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr9:97062172C>T	ENST00000395395.2	+	5	422	c.332C>T	c.(331-333)gCg>gTg	p.A111V	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A111V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGACAATATGCGCTAAGTGGC	0.498																																																1	Substitution - Missense(1)	kidney(1)											72	71	72					9																	97062172		2203	4300	6503	SO:0001583	missense	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.332C>T	9.37:g.97062172C>T	ENSP00000378792:p.Ala111Val		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.620357	0.00828	.	.	ENSG00000175787	ENST00000395395	T	0.06294	3.32	2.59	1.46	0.22682	.	.	.	.	.	T	0.01870	0.0059	N	0.01493	-0.835	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48293	-0.9048	9	0.10377	T	0.69	.	4.1834	0.10387	0.0:0.1726:0.0:0.8274	.	111	Q14929	ZN169_HUMAN	V	111	ENSP00000378792:A111V	ENSP00000378792:A111V	A	+	2	0	ZNF169	96101993	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.237000	0.17985	0.440000	0.26502	-0.438000	0.05819	GCG		0.498	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		T	97062172	C	T	97062172	3	4	143	1	0	0	0	0	1	0	0	0	17747	768	27	1	346	1	ZNF169	9	97062172	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	64491164	97062172	44151259	34	8556											
FKTN	2218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	108363427	108363427	+	Splice_Site	SNP	G	G	A	rs146951171	byFrequency	TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr9:108363427G>A	ENST00000223528.2	+	4	291	c.167G>A	c.(166-168)cGt>cAt	p.R56H	FKTN_ENST00000602661.1_Splice_Site_p.R56H|FKTN_ENST00000448551.2_Splice_Site_p.R56H|FKTN_ENST00000540160.1_Splice_Site_p.R56H|FKTN_ENST00000357998.5_Splice_Site_p.R56H	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	56			R -> C (in dbSNP:rs41277797).		muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.R56H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						CTCAAACAGCGTGCAGTTAAA	0.289													g|||	12	0.00239617	0.0091	0.0	5008	,	,		17992	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						A	HIS/ARG,HIS/ARG,HIS/ARG	27,4373	33.5+/-64.1	0,27,2173	46	47	47		167,167,167	4.8	1	9	dbSNP_134	47	0,8592		0,0,4296	yes	missense-near-splice,missense-near-splice,missense-near-splice	FKTN	NM_001079802.1,NM_001198963.1,NM_006731.2	29,29,29	0,27,6469	AA,AG,GG		0.0,0.6136,0.2078	benign,benign,benign	56/462,56/431,56/462	108363427	27,12965	2200	4296	6496	SO:0001630	splice_region_variant	2218				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.166-1G>A	9.37:g.108363427G>A			B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	CCDS6766.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	12.95	2.091871	0.36952	0.006136	0.0	ENSG00000106692	ENST00000223528;ENST00000448551;ENST00000540160;ENST00000357998;ENST00000374705	D;D;D;D;D	0.90900	-2.42;-2.75;-1.56;-2.75;-1.55	5.65	4.76	0.60689	.	0.219502	0.47455	N	0.000231	T	0.76948	0.4059	L	0.27053	0.805	0.40629	D	0.98183	B;B;B	0.30211	0.273;0.014;0.006	B;B;B	0.22880	0.042;0.002;0.002	T	0.75766	-0.3202	10	0.22706	T	0.39	-11.9669	10.2882	0.43579	0.1658:0.0:0.8342:0.0	.	56;56;56	B4E2W4;B4DUX9;O75072	.;.;FKTN_HUMAN	H	56;56;56;56;33	ENSP00000223528:R56H;ENSP00000399140:R56H;ENSP00000439423:R56H;ENSP00000350687:R56H;ENSP00000363837:R33H	ENSP00000223528:R56H	R	+	2	0	FKTN	107403248	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.259000	0.43259	1.410000	0.46936	-0.349000	0.07799	CGT		0.289	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731	Missense_Mutation	A	108363427	G	A	108363427	5	1	143	1	0	0	0	0	0	0	1	0	5921	1159	40	1	177	1	FKTN	9	108363427	Splice_Site	SNP	G	TCGA-B0-4816-01A-01D-1501-10	11301255	108363427	32850004	35	8557											
ITIH5	80760	broad.mit.edu	37	10	7621991	7621991	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:7621991C>G	ENST00000256861.6	-	9	1223	c.1145G>C	c.(1144-1146)aGg>aCg	p.R382T	ITIH5_ENST00000397145.2_Missense_Mutation_p.R382T|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R382T|ITIH5_ENST00000298441.6_Missense_Mutation_p.R168T|ITIH5_ENST00000446830.2_Missense_Mutation_p.R164T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	382	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R382T(2)|p.R382M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTTGAGGAGCCTGATGGCCCT	0.612																																																3	Substitution - Missense(3)	kidney(2)|lung(1)											45	41	43					10																	7621991		2203	4300	6503	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1145G>C	10.37:g.7621991C>G	ENSP00000256861:p.Arg382Thr		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	C	3.636	-0.074473	0.07184	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.33	0.808	0.18719	von Willebrand factor, type A (3);	1.046220	0.07308	N	0.875263	T	0.64571	0.2610	.	.	.	0.09310	N	1	B;B;B	0.33000	0.062;0.393;0.341	B;B;B	0.33846	0.171;0.124;0.076	T	0.50432	-0.8829	9	0.24483	T	0.36	-1.6162	8.0759	0.30716	0.0:0.4466:0.0:0.5534	.	382;382;168	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	T	382;382;168;164;382	ENSP00000256861:R382T;ENSP00000380333:R382T;ENSP00000298441:R168T;ENSP00000387969:R164T;ENSP00000380332:R382T	ENSP00000256861:R382T	R	-	2	0	ITIH5	7661997	0.048000	0.20356	0.757000	0.31301	0.156000	0.22039	0.618000	0.24373	0.247000	0.21414	0.561000	0.74099	AGG		0.612	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		G	7621991	C	G	7621991	3	3	143	1	0	0	0	0	1	0	0	0	7909	681	24	4	1830	4	ITIH5	10	7621991	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10		7621991	127912756	36	8558											
ANKRD26	22852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	27324608	27324608	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:27324608A>C	ENST00000376087.4	-	24	2936	c.2771T>G	c.(2770-2772)cTa>cGa	p.L924R	ANKRD26_ENST00000376070.3_Missense_Mutation_p.L481R|ANKRD26_ENST00000436985.2_Missense_Mutation_p.L940R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	923					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.L924R(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCTAGTCTTAGCATAGCAAT	0.308																																																1	Substitution - Missense(1)	kidney(1)											57	47	50					10																	27324608		1811	4078	5889	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2771T>G	10.37:g.27324608A>C	ENSP00000365255:p.Leu924Arg		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120229	0.56613	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.21932	1.98;1.98;1.98	5.64	4.49	0.54785	.	0.000000	0.43416	D	0.000565	T	0.48132	0.1483	M	0.84846	2.72	0.18873	N	0.999989	D;D;D	0.89917	1.0;0.999;0.966	D;D;P	0.72338	0.977;0.95;0.452	T	0.47156	-0.9139	10	0.87932	D	0	.	11.0529	0.47901	0.8439:0.1561:0.0:0.0	.	924;923;940	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	R	481;924;940	ENSP00000365238:L481R;ENSP00000365255:L924R;ENSP00000405112:L940R	ENSP00000365238:L481R	L	-	2	0	ANKRD26	27364614	0.919000	0.31177	0.043000	0.18650	0.980000	0.70556	5.934000	0.70138	0.956000	0.37904	0.482000	0.46254	CTA		0.308	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			C	27324608	A	C	27324608	3	2	143	1	0	0	0	0	1	0	0	0	654	420	15	5	2405	5	ANKRD26	10	27324608	Missense_Mutation	SNP	A	TCGA-B0-4816-01A-01D-1501-10	19702617	27324608	108210139	37	8559											
ZNF33A	7581	hgsc.bcm.edu	37	10	38343924	38343924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:38343924delC	ENST00000458705.2	+	5	1027	c.869delC	c.(868-870)tctfs	p.S290fs	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Frame_Shift_Del_p.S290fs|ZNF33A_ENST00000432900.2_Frame_Shift_Del_p.S297fs|ZNF33A_ENST00000374618.3_Frame_Shift_Del_p.S291fs			Q06730	ZN33A_HUMAN	zinc finger protein 33A	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TCCACCCTTTCTAAACCTCAT	0.393																																																0													74	74	74					10																	38343924		2203	4299	6502	SO:0001589	frameshift_variant	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.869delC	10.37:g.38343924delC	ENSP00000387713:p.Ser290fs		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Frame_Shift_Del	DEL	ENST00000458705.2	37	CCDS31182.1																																																																																				0.393	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		-	38343924	C	-	38343924	7	5	143	1	0	1	0	1	0	0	0	0	17859	913	32	0	886	0	ZNF33A	10	38343924	Frame_Shift_Del	DEL	C	TCGA-B0-4816-01A-01D-1501-10	11019316	38343924	97190823	38	8560											
PANK1	53354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	91344174	91344174	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:91344174C>A	ENST00000307534.4	-	7	1941	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	PANK1_ENST00000322191.6_Missense_Mutation_p.D312Y|PANK1_ENST00000342512.3_Missense_Mutation_p.D371Y|PANK1_ENST00000371774.2_Missense_Mutation_p.D398Y	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	596					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.D596Y(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TACTTGTCATCAGTCATTTTG	0.438																																																1	Substitution - Missense(1)	kidney(1)											173	168	169					10																	91344174		2203	4300	6503	SO:0001583	missense	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1786G>T	10.37:g.91344174C>A	ENSP00000302108:p.Asp596Tyr		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388926	0.42308	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99704	-6.2;-6.01;-6.27;-6.46	4.8	4.8	0.61643	.	0.189189	0.44097	D	0.000495	D	0.98438	0.9480	N	0.08118	0	0.53005	D	0.999968	P;P;P;P	0.48407	0.763;0.91;0.676;0.891	P;P;P;B	0.47673	0.452;0.554;0.447;0.347	D	0.99490	1.0950	10	0.66056	D	0.02	.	17.3704	0.87376	0.0:1.0:0.0:0.0	.	398;596;312;371	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	Y	371;312;398;596;459	ENSP00000345118:D371Y;ENSP00000318526:D312Y;ENSP00000360839:D398Y;ENSP00000302108:D596Y	ENSP00000302108:D596Y	D	-	1	0	PANK1	91334154	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	2.941000	0.49011	2.642000	0.89623	0.655000	0.94253	GAT		0.438	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	91344174	C	A	91344174	3	1	143	1	0	0	0	0	1	0	0	0	11418	826	29	4	14	4	PANK1	10	91344174	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	53000250	91344174	44190573	39	8561											
BTAF1	9044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93784687	93784687	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:93784687A>G	ENST00000265990.6	+	35	5346	c.5038A>G	c.(5038-5040)Agc>Ggc	p.S1680G	BTAF1_ENST00000544642.1_Missense_Mutation_p.S508G	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1680	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1680G(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTAGATGGCAGCATACCTCC	0.388																																																1	Substitution - Missense(1)	kidney(1)											145	135	139					10																	93784687		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5038A>G	10.37:g.93784687A>G	ENSP00000265990:p.Ser1680Gly		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323096	0.81580	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.74737	-0.87;-0.87	5.99	5.99	0.97316	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	L	0.55834	1.745	0.80722	D	1	P	0.41131	0.739	P	0.48873	0.593	T	0.77378	-0.2610	10	0.41790	T	0.15	-10.9014	16.4892	0.84195	1.0:0.0:0.0:0.0	.	1680	O14981	BTAF1_HUMAN	G	1680;508;530	ENSP00000265990:S1680G;ENSP00000439924:S508G	ENSP00000265990:S1680G	S	+	1	0	BTAF1	93774667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.300000	0.96151	2.296000	0.77279	0.533000	0.62120	AGC		0.388	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		G	93784687	A	G	93784687	3	3	143	1	0	0	0	0	1	0	0	0	1538	188	7	3	5176	3	BTAF1	10	93784687	Missense_Mutation	SNP	A	TCGA-B0-4816-01A-01D-1501-10	2440513	93784687	41750060	40	8562											
SEMA4G	57715	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102738875	102738875	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr10:102738875A>T	ENST00000370250.4	+	8	1203	c.830A>T	c.(829-831)aAg>aTg	p.K277M	RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.K277M|MRPL43_ENST00000318325.2_3'UTR|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.K277M	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	277	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K277M(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTGGGAGGGAAGAAGATCCTG	0.592																																																1	Substitution - Missense(1)	kidney(1)											86	78	81					10																	102738875		2203	4300	6503	SO:0001583	missense	57715			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.830A>T	10.37:g.102738875A>T	ENSP00000359270:p.Lys277Met		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		.	.	.	.	.	.	.	.	.	.	a	18.42	3.620926	0.66787	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.76	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.139743	0.64402	D	0.000003	T	0.27663	0.0680	L	0.60455	1.87	0.40355	D	0.979174	P;P;B	0.52463	0.723;0.953;0.017	P;P;B	0.59761	0.705;0.863;0.053	T	0.01504	-1.1338	10	0.62326	D	0.03	.	10.0695	0.42324	0.914:0.0:0.086:0.0	.	277;277;277	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	M	277	ENSP00000428896:K277M;ENSP00000359270:K277M;ENSP00000430175:K277M;ENSP00000210633:K277M	ENSP00000210633:K277M	K	+	2	0	SEMA4G	102728865	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.652000	0.46682	0.958000	0.37956	0.392000	0.25879	AAG		0.592	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			T	102738875	A	T	102738875	3	4	143	1	0	0	0	0	1	0	0	0	14042	72	3	5	860	5	SEMA4G	10	102738875	Missense_Mutation	SNP	A	TCGA-B0-4816-01A-01D-1501-10	8954188	102738875	32795872	41	8563											
OR51D1	390038	hgsc.bcm.edu;ucsc.edu	37	11	4661043	4661044	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr11:4661043_4661044insCC	ENST00000357605.2	+	1	99_100	c.23_24insCC	c.(22-27)gtccctfs	p.VP8fs		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCTCTTGGTCCCTATCATAG	0.48																																																0																																										SO:0001589	frameshift_variant	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.24_25dupCC	11.37:g.4661044_4661045dupCC	ENSP00000350222:p.Val8fs		B9EIK4	Frame_Shift_Ins	INS	ENST00000357605.2	37	CCDS31357.1																																																																																				0.48	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		CC	4661044	-	CC	4661043	7	5	143	1	0	1	1	0	0	0	0	0	11095	1667	58	0	25	0	OR51D1	11	4661043	Frame_Shift_Ins	INS	-	TCGA-B0-4816-01A-01D-1501-10		4661043	130345473	42	8564											
DNHD1	144132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6592961	6592961	+	Silent	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr11:6592961C>T	ENST00000527990.2	+	41	14007	c.14007C>T	c.(14005-14007)gcC>gcT	p.A4669A	DNHD1_ENST00000254579.6_Silent_p.A4669A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4669					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.A4669A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TAGCTGGAGCCTTGCAGGACA	0.637																																																1	Substitution - coding silent(1)	kidney(1)											39	51	47					11																	6592961		2127	4236	6363	SO:0001819	synonymous_variant	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.14007C>T	11.37:g.6592961C>T			Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																				0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6592961	C	T	6592961	2	4	143	1	0	0	0	0	0	0	0	1	4670	668	24	2		2	DNHD1	11	6592961	Silent	SNP	C	TCGA-B0-4816-01A-01D-1501-10	1931918	6592961	128413555	43	8565											
NXF1	10482	broad.mit.edu;ucsc.edu	37	11	62569079	62569079	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr11:62569079C>G	ENST00000532297.1	-	8	1293	c.664G>C	c.(664-666)Ggc>Cgc	p.G222R	NXF1_ENST00000531709.2_Missense_Mutation_p.G222R|NXF1_ENST00000294172.2_Missense_Mutation_p.G222R|NXF1_ENST00000439713.2_Missense_Mutation_p.G222R|NXF1_ENST00000531131.1_Missense_Mutation_p.G85R			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	222					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G222R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTGGGAGCCATCGTATCGT	0.512																																																1	Substitution - Missense(1)	kidney(1)											167	166	167					11																	62569079		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.664G>C	11.37:g.62569079C>G	ENSP00000436679:p.Gly222Arg		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194396	0.78902	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.46	5.46	0.80206	.	0.049894	0.85682	D	0.000000	T	0.53932	0.1827	L	0.38175	1.15	0.80722	D	1	P;D;D;D	0.89917	0.804;0.976;1.0;0.997	B;B;D;P	0.91635	0.319;0.361;0.999;0.767	T	0.41574	-0.9501	10	0.22706	T	0.39	-28.0921	16.8154	0.85733	0.0:1.0:0.0:0.0	.	85;265;235;222	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	R	222;222;265;222	ENSP00000294172:G222R;ENSP00000436679:G222R;ENSP00000435742:G265R;ENSP00000408864:G222R	ENSP00000294172:G222R	G	-	1	0	NXF1	62325655	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.174000	0.65015	2.573000	0.86826	0.655000	0.94253	GGC		0.512	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		G	62569079	C	G	62569079	3	3	143	1	0	0	0	0	1	0	0	0	10784	594	21	4	1310	4	NXF1	11	62569079	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	55976118	62569079	72437437	44	8566											
CD163L1	283316	broad.mit.edu;ucsc.edu	37	12	7527159	7527159	+	Silent	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr12:7527159C>T	ENST00000313599.3	-	13	3345	c.3288G>A	c.(3286-3288)ggG>ggA	p.G1096G	CD163L1_ENST00000416109.2_Silent_p.G1106G|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000396630.1_Silent_p.G1096G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1096	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.G1096G(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCAGATGGGCCCTGACCCCT	0.632											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											88	80	83					12																	7527159		2203	4300	6503	SO:0001819	synonymous_variant	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3288G>A	12.37:g.7527159C>T		642	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																				0.632	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		T	7527159	C	T	7527159	2	4	143	1	0	0	0	0	0	0	0	1	2970	726	26	2		2	CD163L1	12	7527159	Silent	SNP	C	TCGA-B0-4816-01A-01D-1501-10		7527159	126324736	45	8567											
RIMBP2	23504	broad.mit.edu	37	12	130926698	130926698	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr12:130926698G>A	ENST00000261655.4	-	8	1311	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	RIMBP2_ENST00000536002.1_Missense_Mutation_p.T291M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T291M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	383	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T383M(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CACCAGCAGCGTGCACTGCAG	0.637																																																1	Substitution - Missense(1)	kidney(1)											114	102	106					12																	130926698		2203	4300	6503	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1148C>T	12.37:g.130926698G>A	ENSP00000261655:p.Thr383Met		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	g	17.47	3.398389	0.62177	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.55052	0.54;0.54;0.54	4.23	4.23	0.50019	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	M	0.83953	2.67	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.83275	0.826;0.972;0.996	T	0.80491	-0.1359	10	0.72032	D	0.01	-24.31	16.6129	0.84899	0.0:0.0:1.0:0.0	.	291;291;383	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	M	383;291;291;291	ENSP00000261655:T383M;ENSP00000440347:T291M;ENSP00000439159:T291M	ENSP00000261655:T383M	T	-	2	0	RIMBP2	129492651	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	4.555000	0.60767	1.867000	0.54127	0.537000	0.68136	ACG		0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		A	130926698	G	A	130926698	3	1	143	1	0	0	0	0	1	0	0	0	13369	1145	40	1	2058	1	RIMBP2	12	130926698	Missense_Mutation	SNP	G	TCGA-B0-4816-01A-01D-1501-10	123399539	130926698	2925197	46	8568											
TECPR2	9895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	102906859	102906859	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr14:102906859G>A	ENST00000359520.7	+	11	2891	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K	TECPR2_ENST00000558678.1_Missense_Mutation_p.E889K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	889					autophagy (GO:0006914)|cell death (GO:0008219)			p.E889K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCACTGGTACGAAGCCCTGCC	0.547																																																1	Substitution - Missense(1)	kidney(1)											73	74	74					14																	102906859		2203	4300	6503	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2665G>A	14.37:g.102906859G>A	ENSP00000352510:p.Glu889Lys		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036452	0.75617	.	.	ENSG00000196663	ENST00000359520	T	0.80393	-1.37	5.86	5.86	0.93980	.	0.049705	0.85682	D	0.000000	T	0.71476	0.3344	N	0.14661	0.345	0.48696	D	0.999694	B;D;P	0.54964	0.315;0.969;0.92	B;B;B	0.43536	0.018;0.423;0.313	T	0.71437	-0.4593	10	0.31617	T	0.26	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	72;889;889	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	K	889	ENSP00000352510:E889K	ENSP00000352510:E889K	E	+	1	0	TECPR2	101976612	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.558000	0.82253	2.937000	0.99478	0.650000	0.86243	GAA		0.547	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		A	102906859	G	A	102906859	3	1	143	1	0	0	0	0	1	0	0	0	15749	1059	37	1	2703	1	TECPR2	14	102906859	Missense_Mutation	SNP	G	TCGA-B0-4816-01A-01D-1501-10		102906859	4442681	47	8569											
PPIB	5479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	64448267	64448268	+	Missense_Mutation	DNP	GC	GC	AT	rs143287832		TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr15:64448267_64448268GC>AT	ENST00000300026.3	-	5	823_824	c.605_606GC>AT	c.(604-606)tGC>tAT	p.C202Y	PPIB_ENST00000558492.1_5'Flank|SNX22_ENST00000325881.4_3'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	202	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)	p.C202C(1)|p.C202Y(1)		kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CGATCTTGCCGCAGTCTGCGAT	0.569																																					GBM(105;399 1481 32889 33051 36637)											2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	5479				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.605_606delinsAT	15.37:g.64448267_64448268delinsAT	ENSP00000300026:p.Cys202Tyr		A8K534|Q6IBH5|Q9BVK5	Silent|Missense_Mutation	SNP	ENST00000300026.3	37	CCDS10191.1																																																																																				0.569	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1			AT	64448268	GC	AT	64448267	3	1	143	1	0	0	0	0	1	0	0	0	12324	1079	38	1	48	1	PPIB	15	64448267	Missense_Mutation	DNP	GC	TCGA-B0-4816-01A-01D-1501-10		64448267	38083125	48	8570											
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3945845	3945845	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr17:3945845C>T	ENST00000381638.2	-	39	6308	c.6184G>A	c.(6184-6186)Gtg>Atg	p.V2062M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2062							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.V2062M(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGAGATGACACTTCTGAATCT	0.448																																																1	Substitution - Missense(1)	kidney(1)											110	104	106					17																	3945845		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6184G>A	17.37:g.3945845C>T	ENSP00000371051:p.Val2062Met		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369325	0.24771	.	.	ENSG00000074755	ENST00000381638	T	0.23348	1.91	5.07	0.657	0.17850	.	2.058680	0.01745	N	0.029612	T	0.13628	0.0330	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.0	T	0.23797	-1.0178	10	0.41790	T	0.15	6.5226	7.2273	0.26022	0.0:0.6656:0.1219:0.2125	.	2062;2062	O43149-2;O43149	.;ZZEF1_HUMAN	M	2062	ENSP00000371051:V2062M	ENSP00000371051:V2062M	V	-	1	0	ZZEF1	3892594	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	1.619000	0.36965	-0.008000	0.14320	0.591000	0.81541	GTG		0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		T	3945845	C	T	3945845	3	4	143	1	0	0	0	0	1	0	0	0	18260	565	20	2	2769	2	ZZEF1	17	3945845	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10		3945845	77249365	49	8571											
NEURL4	84461	hgsc.bcm.edu;ucsc.edu	37	17	7222420	7222420	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr17:7222420delT	ENST00000399464.2	-	22	3648	c.3633delA	c.(3631-3633)aaafs	p.K1211fs	RP11-542C16.2_ENST00000575474.1_Frame_Shift_Del_p.N25fs|NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Frame_Shift_Del_p.K1187fs|NEURL4_ENST00000315614.7_Frame_Shift_Del_p.K1209fs	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1211	NHR 6. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGCTGCCCGTTTGAGGGCAC	0.587																																																0													52	62	59					17																	7222420		2008	4163	6171	SO:0001589	frameshift_variant	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3633delA	17.37:g.7222420delT	ENSP00000382390:p.Lys1211fs		Q6GPI8|Q96IU9|Q9H0B0	Frame_Shift_Del	DEL	ENST00000399464.2	37	CCDS42251.1																																																																																				0.587	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		-	7222420	T	-	7222420	7	5	143	1	0	1	0	1	0	0	0	0	10349	1722	60	0	1087	0	NEURL4	17	7222420	Frame_Shift_Del	DEL	T	TCGA-B0-4816-01A-01D-1501-10	3276575	7222420	73972790	50	8572											
MAP3K14	9020	hgsc.bcm.edu;ucsc.edu	37	17	43368049	43368049	+	RNA	DEL	T	T	-			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr17:43368049delT	ENST00000344686.2	-	0	171							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTTGGGGAGTTCCTTCTGCT	0.587																																																0													68	74	72					17																	43368049		1957	4134	6091			9020			Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6853	protein-coding gene	gene with protein product	"serine/threonine protein-kinase"	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43368049delT			A8K2D8|D3DX67|Q8IYN1	Frame_Shift_Del	DEL	ENST00000344686.2	37																																																																																					0.587	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		-	43368049	T	-	43368049	6	5	143	0	1	1	0	1	0	0	0	0	9250	1722	60	0		0	MAP3K14	17	43368049	RNA	DEL	T	TCGA-B0-4816-01A-01D-1501-10	36145629	43368049	37827161	51	8573											
TMEM100	55273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	53798317	53798317	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr17:53798317C>G	ENST00000575734.1	-	4	923	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	TMEM100_ENST00000570586.1_5'Flank|TMEM100_ENST00000424486.2_Missense_Mutation_p.E39Q	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	39					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.E39Q(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						AACTGAATCTCACTGACCAGA	0.567																																																1	Substitution - Missense(1)	kidney(1)											142	136	138					17																	53798317		2203	4300	6503	SO:0001583	missense	55273			AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.115G>C	17.37:g.53798317C>G	ENSP00000465638:p.Glu39Gln		D3DTY7|I3L214|Q96FZ0	Missense_Mutation	SNP	ENST00000575734.1	37	CCDS11587.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053235	0.93793	.	.	ENSG00000166292	ENST00000299377;ENST00000424486	.	.	.	5.91	5.91	0.95273	.	0.095882	0.64402	D	0.000001	T	0.79747	0.4499	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79541	-0.1761	9	0.59425	D	0.04	.	19.2867	0.94077	0.0:1.0:0.0:0.0	.	39	Q9NV29	TM100_HUMAN	Q	39	.	ENSP00000299377:E39Q	E	-	1	0	TMEM100	51153316	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.136000	0.77285	2.793000	0.96121	0.655000	0.94253	GAG		0.567	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2	NM_018286		G	53798317	C	G	53798317	3	3	143	1	0	0	0	0	1	0	0	0	16020	835	29	4	293	4	TMEM100	17	53798317	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10	10430268	53798317	27396893	52	8574											
ZNF57	126295	broad.mit.edu;hgsc.bcm.edu	37	19	2917940	2917940	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr19:2917940A>T	ENST00000306908.5	+	4	1469	c.1321A>T	c.(1321-1323)Att>Ttt	p.I441F	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.I409F	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I441F(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATGTGAGAATTCACACGCA	0.463																																					NSCLC(150;910 1964 4303 10464 26498)											1	Substitution - Missense(1)	kidney(1)											111	101	104					19																	2917940		2203	4300	6503	SO:0001583	missense	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1321A>T	19.37:g.2917940A>T	ENSP00000303696:p.Ile441Phe		Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958034	0.73902	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.08807	3.05;3.05	2.02	2.02	0.26589	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19565	0.0470	L	0.58925	1.835	0.31557	N	0.658023	D	0.71674	0.998	D	0.65874	0.939	T	0.08046	-1.0741	9	0.66056	D	0.02	.	7.6452	0.28316	1.0:0.0:0.0:0.0	.	441	Q68EA5	ZNF57_HUMAN	F	441;443;409	ENSP00000303696:I441F;ENSP00000430223:I409F	ENSP00000303696:I441F	I	+	1	0	ZNF57	2868940	0.000000	0.05858	0.005000	0.12908	0.649000	0.38597	0.278000	0.18753	0.939000	0.37446	0.418000	0.28097	ATT		0.463	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		T	2917940	A	T	2917940	3	4	143	1	0	0	0	0	1	0	0	0	18006	101	4	5	1335	5	ZNF57	19	2917940	Missense_Mutation	SNP	A	TCGA-B0-4816-01A-01D-1501-10		2917940	56211043	53	8575											
GMIP	51291	broad.mit.edu	37	19	19744707	19744708	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr19:19744707_19744708insA	ENST00000203556.4	-	19	2513_2514	c.2376_2377insT	c.(2374-2379)gacccafs	p.P793fs	GMIP_ENST00000445806.2_Frame_Shift_Ins_p.P764fs|GMIP_ENST00000587238.1_Frame_Shift_Ins_p.P767fs|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	793	Pro-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						tgggagtctgggtcaaggtgcg	0.693																																																0																																										SO:0001589	frameshift_variant	51291			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2376_2377insT	19.37:g.19744707_19744708insA	ENSP00000203556:p.Pro793fs		A0AVN9|B7ZLZ0	Frame_Shift_Ins	INS	ENST00000203556.4	37	CCDS12408.1																																																																																				0.693	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		A	19744708	-	A	19744707	7	5	143	1	0	1	1	0	0	0	0	0	6493	1232	43	0	547	0	GMIP	19	19744707	Frame_Shift_Ins	INS	-	TCGA-B0-4816-01A-01D-1501-10	16826767	19744707	39384276	54	8576											
ZNF829	374899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37382715	37382715	+	Silent	SNP	A	A	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr19:37382715A>G	ENST00000391711.3	-	6	1342	c.978T>C	c.(976-978)tgT>tgC	p.C326C	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Silent_p.C407C|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C326C(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACACTGCTTACATTCATAAG	0.398																																																1	Substitution - coding silent(1)	kidney(1)											75	76	75					19																	37382715		2199	4300	6499	SO:0001819	synonymous_variant	374899			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.978T>C	19.37:g.37382715A>G			Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	ENST00000391711.3	37	CCDS42557.1																																																																																				0.398	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		G	37382715	A	G	37382715	2	3	143	1	0	0	0	0	0	0	0	1	18187	389	14	3		3	ZNF829	19	37382715	Silent	SNP	A	TCGA-B0-4816-01A-01D-1501-10	17638008	37382715	21746268	55	8577											
LTBP4	8425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41105107	41105107	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chr19:41105107G>A	ENST00000308370.7	+	2	151	c.151G>A	c.(151-153)Gct>Act	p.A51T	LTBP4_ENST00000204005.9_Silent_p.L7L|LTBP4_ENST00000545697.1_De_novo_Start_InFrame|LTBP4_ENST00000396819.3_5'Flank|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	51					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.A51T(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTATAGCGTTGCTGTTTGTCG	0.572											OREG0025473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											39	41	40					19																	41105107		1963	4134	6097	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.151G>A	19.37:g.41105107G>A	ENSP00000311905:p.Ala51Thr	898	O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	G	12.23	1.875342	0.33162	.	.	ENSG00000090006	ENST00000308370	T	0.80909	-1.43	3.5	2.43	0.29744	.	.	.	.	.	T	0.67429	0.2892	.	.	.	0.09310	N	0.999997	B	0.27498	0.18	B	0.19391	0.025	T	0.54476	-0.8288	8	0.33940	T	0.23	.	8.7961	0.34881	0.0:0.2324:0.7676:0.0	.	51	Q8N2S1	LTBP4_HUMAN	T	51	ENSP00000311905:A51T	ENSP00000311905:A51T	A	+	1	0	LTBP4	45796947	0.000000	0.05858	0.005000	0.12908	0.802000	0.45316	0.459000	0.21908	0.795000	0.33922	0.455000	0.32223	GCT		0.572	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		A	41105107	G	A	41105107	3	1	143	1	0	0	0	0	1	0	0	0	9078	1319	46	2	177	2	LTBP4	19	41105107	Missense_Mutation	SNP	G	TCGA-B0-4816-01A-01D-1501-10	3722392	41105107	18023876	56	8578											
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53239736	53239736	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chrX:53239736C>A	ENST00000375401.3	-	12	2138	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	KDM5C_ENST00000452825.3_Missense_Mutation_p.G469W|KDM5C_ENST00000404049.3_Missense_Mutation_p.G535W|KDM5C_ENST00000375383.3_Missense_Mutation_p.G495W|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375379.3_Missense_Mutation_p.G536W|KDM5C-IT1_ENST00000412242.1_RNA	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	536	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.G536W(1)|p.G469W(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GAGGGCACCCCATACCAGGTC	0.517			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Missense(2)	kidney(2)											128	115	119					X																	53239736		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1606G>T	X.37:g.53239736C>A	ENSP00000364550:p.Gly536Trp		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587682	0.66105	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.41	5.41	0.78517	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92028	0.5631	10	0.87932	D	0	-25.7564	15.4841	0.75551	0.0:1.0:0.0:0.0	.	469;535;536	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	W	469;536;535;536;495	ENSP00000445176:G469W;ENSP00000364550:G536W;ENSP00000385394:G535W;ENSP00000364528:G536W;ENSP00000364532:G495W	ENSP00000364528:G536W	G	-	1	0	KDM5C	53256461	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.818000	0.86416	2.248000	0.74166	0.600000	0.82982	GGG		0.517	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53239736	C	A	53239736	3	1	143	1	0	0	0	0	1	0	0	0	8137	594	21	4	3234	4	KDM5C	23	53239736	Missense_Mutation	SNP	C	TCGA-B0-4816-01A-01D-1501-10		53239736	102030824	57	8579											
CYLC1	1538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	83128364	83128364	+	Silent	SNP	A	A	G			TCGA-B0-4816-01A-01D-1501-10	TCGA-B0-4816-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aa690c54-aeb4-4aa8-ae5a-5119cdfcf7cf	7a97955f-563e-41e5-b450-2af011108d71	g.chrX:83128364A>G	ENST00000329312.4	+	4	685	c.648A>G	c.(646-648)acA>acG	p.T216T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	216					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T215T(1)|p.T216T(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCCTACATACAAAGAACAATC	0.313																																																2	Substitution - coding silent(2)	kidney(2)											25	24	25					X																	83128364		2194	4277	6471	SO:0001819	synonymous_variant	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.648A>G	X.37:g.83128364A>G			A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	CCDS35341.1																																																																																				0.313	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		G	83128364	A	G	83128364	2	3	143	1	0	0	0	0	0	0	0	1	4143	117	5	3		3	CYLC1	23	83128364	Silent	SNP	A	TCGA-B0-4816-01A-01D-1501-10	29888628	83128364	72142196	58	8580											
VHL	7428	hgsc.bcm.edu	37	3	10183755	10183755	+	Frame_Shift_Del	DEL	T	T	-	rs5030648		TCGA-B0-4816-01A-01W-1528-10	TCGA-B0-4816-11A-02W-1528-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	d5ee9c73-2794-4e3c-bcaa-9d6b3bd63024	076ea472-3ea0-410f-b24f-f2e5659e0b90	g.chr3:10183755delT	ENST00000256474.2	+	1	1064	c.224delT	c.(223-225)atcfs	p.I75fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Del_p.I75fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	75			Missing (in VHLD). {ECO:0000269|PubMed:8493574}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.F76del(3)|p.S72_V87>L(1)|p.R60fs*35(1)|p.V74fs*51(1)|p.I75fs*54(1)|p.I75fs*57(1)|p.P71fs*56(1)|p.V74fs*77(1)|p.V74fs*82(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCCCAGGTCATCTTCTGCAAT	0.731		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(10)|soft_tissue(1)	GRCh37	CM071136	VHL	M							11	14	13					3																	10183755		2171	4237	6408	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.224delT	3.37:g.10183755delT	ENSP00000256474:p.Ile75fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.731	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183755	T	-	10183755	7	5	144	1	0	1	0	1	0	0	0	0	17167	1435	50	0	226	0	VHL	3	10183755	Frame_Shift_Del	DEL	T	TCGA-B0-4816-01A-01W-1528-10		10183755	187838675	1	8581											
ATAD3C	219293	hgsc.bcm.edu	37	1	1391244	1391244	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr1:1391244G>C	ENST00000378785.2	+	6	1507	c.512G>C	c.(511-513)aGg>aCg	p.R171T		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	171							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCTGTACAGGCACATCCTG	0.627																																																0													90	100	97					1																	1391244		692	1591	2283	SO:0001583	missense	219293			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.512G>C	1.37:g.1391244G>C	ENSP00000368062:p.Arg171Thr		Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	4.651	0.121094	0.08881	.	.	ENSG00000215915	ENST00000378785	T	0.79352	-1.26	2.52	2.52	0.30459	ATPase, AAA+ type, core (1);	0.049403	0.85682	D	0.000000	D	0.88522	0.6459	M	0.91406	3.205	0.58432	D	0.999997	D	0.76494	0.999	D	0.66716	0.946	D	0.90447	0.4436	10	0.87932	D	0	.	12.0152	0.53309	0.0:0.0:1.0:0.0	.	171	Q5T2N8	ATD3C_HUMAN	T	171	ENSP00000368062:R171T	ENSP00000368062:R171T	R	+	2	0	ATAD3C	1381107	1.000000	0.71417	0.003000	0.11579	0.001000	0.01503	9.043000	0.93799	1.229000	0.43630	0.205000	0.17691	AGG		0.627	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		C	1391244	G	C	1391244	3	2	145	1	0	0	0	0	1	0	0	0	1075	1000	35	4	534	4	ATAD3C	1	1391244	Missense_Mutation	SNP	G	TCGA-B0-4817-01A-01D-1361-10		1391244	247859377	1	8582											
ANKRD35	148741	hgsc.bcm.edu	37	1	145566760	145566760	+	Silent	SNP	T	T	C			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr1:145566760T>C	ENST00000355594.4	+	11	2949	c.2862T>C	c.(2860-2862)ctT>ctC	p.L954L		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	954										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGCTCGCCTTGCCCTGCAGC	0.498																																					Melanoma(9;127 754 22988 51047)											0													90	86	87					1																	145566760		2203	4300	6503	SO:0001819	synonymous_variant	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2862T>C	1.37:g.145566760T>C			A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	CCDS919.1																																																																																				0.498	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		C	145566760	T	C	145566760	2	2	145	1	0	0	0	0	0	0	0	1	664	1799	63	3		3	ANKRD35	1	145566760	Silent	SNP	T	TCGA-B0-4817-01A-01D-1361-10	144175516	145566760	103683861	2	8583											
FAM129A	116496	hgsc.bcm.edu	37	1	184859343	184859343	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr1:184859343C>A	ENST00000367511.3	-	4	525	c.332G>T	c.(331-333)gGa>gTa	p.G111V		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	111					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGGAGCAGCTCCTCTCTGATA	0.433																																																0													71	72	72					1																	184859343		2203	4300	6503	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.332G>T	1.37:g.184859343C>A	ENSP00000356481:p.Gly111Val		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316925	0.60524	.	.	ENSG00000135842	ENST00000367511	T	0.15256	2.44	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.28554	-1.0040	10	0.72032	D	0.01	-23.069	15.358	0.74443	0.0:1.0:0.0:0.0	.	111	Q9BZQ8	NIBAN_HUMAN	V	111	ENSP00000356481:G111V	ENSP00000356481:G111V	G	-	2	0	FAM129A	183125966	1.000000	0.71417	0.988000	0.46212	0.434000	0.31775	4.572000	0.60886	2.687000	0.91594	0.655000	0.94253	GGA		0.433	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			A	184859343	C	A	184859343	3	1	145	1	0	0	0	0	1	0	0	0	5438	855	30	4	2498	4	FAM129A	1	184859343	Missense_Mutation	SNP	C	TCGA-B0-4817-01A-01D-1361-10	39292583	184859343	64391278	3	8584											
IRF2BP2	359948	hgsc.bcm.edu;ucsc.edu	37	1	234743339	234743339	+	Silent	SNP	C	C	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr1:234743339C>A	ENST00000366609.3	-	2	1338	c.1308G>T	c.(1306-1308)ggG>ggT	p.G436G	IRF2BP2_ENST00000366610.3_Silent_p.G420G|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CATGACTGCCCCCTGCATTGT	0.577																																																0													127	127	127					1																	234743339		2203	4300	6503	SO:0001819	synonymous_variant	359948			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1308G>T	1.37:g.234743339C>A			B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	37	CCDS1602.1																																																																																				0.577	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		A	234743339	C	A	234743339	2	1	145	1	0	0	0	0	0	0	0	1	7832	610	22	4		4	IRF2BP2	1	234743339	Silent	SNP	C	TCGA-B0-4817-01A-01D-1361-10	49883996	234743339	14507282	4	8585											
CDC42EP3	10602	hgsc.bcm.edu;ucsc.edu	37	2	37873389	37873389	+	Silent	SNP	T	T	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr2:37873389T>A	ENST00000295324.3	-	2	1342	c.342A>T	c.(340-342)ggA>ggT	p.G114G	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	114					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				GAGCTTGGGATCCTCCAATGG	0.547																																																0													74	75	75					2																	37873389		2203	4300	6503	SO:0001819	synonymous_variant	10602			AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.342A>T	2.37:g.37873389T>A			B2R8S0|O95353|Q9UQJ0	Silent	SNP	ENST00000295324.3	37	CCDS1791.1																																																																																				0.547	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		A	37873389	T	A	37873389	2	1	145	1	0	0	0	0	0	0	0	1	3079	1422	50	5		5	CDC42EP3	2	37873389	Silent	SNP	T	TCGA-B0-4817-01A-01D-1361-10		37873389	205325984	5	8586											
SSFA2	6744	hgsc.bcm.edu	37	2	182765606	182765606	+	Silent	SNP	A	A	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr2:182765606A>T	ENST00000431877.2	+	7	866	c.687A>T	c.(685-687)gtA>gtT	p.V229V	SSFA2_ENST00000428267.2_Silent_p.V76V|SSFA2_ENST00000320370.7_Silent_p.V229V|SSFA2_ENST00000409001.1_Silent_p.V229V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	229						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V229V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGATGGAAGTAGAAAACCCAA	0.303																																																1	Substitution - coding silent(1)	central_nervous_system(1)											51	53	52					2																	182765606		2203	4298	6501	SO:0001819	synonymous_variant	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.687A>T	2.37:g.182765606A>T			A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP	ENST00000431877.2	37	CCDS46467.1																																																																																				0.303	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		T	182765606	A	T	182765606	2	4	145	1	0	0	0	0	0	0	0	1	15188	407	15	5		5	SSFA2	2	182765606	Silent	SNP	A	TCGA-B0-4817-01A-01D-1361-10	144892217	182765606	60433767	6	8587											
ALPI	248	hgsc.bcm.edu	37	2	233322958	233322958	+	Silent	SNP	T	T	C	rs41265121	byFrequency	TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr2:233322958T>C	ENST00000295463.3	+	9	1100	c.1023T>C	c.(1021-1023)ggT>ggC	p.G341G		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	341					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATCATGAGGGTGTGGCTTACC	0.662													T|||	490	0.0978435	0.1089	0.0764	5008	,	,		16877	0.1012		0.1093	False		,,,				2504	0.0828															0								T		471,3935	221.7+/-238.7	29,413,1761	77	73	75		1023	0.2	0	2	dbSNP_127	75	740,7860	178.9+/-228.2	31,678,3591	no	coding-synonymous	ALPI	NM_001631.3		60,1091,5352	CC,CT,TT		8.6047,10.69,9.3111		341/529	233322958	1211,11795	2203	4300	6503	SO:0001819	synonymous_variant	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1023T>C	2.37:g.233322958T>C			B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	37	CCDS2492.1																																																																																				0.662	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		C	233322958	T	C	233322958	2	2	145	1	0	0	0	0	0	0	0	1	543	1683	59	3		3	ALPI	2	233322958	Silent	SNP	T	TCGA-B0-4817-01A-01D-1361-10	50557352	233322958	9876415	7	8588											
ZNF619	285267	hgsc.bcm.edu	37	3	40528385	40528385	+	Silent	SNP	A	A	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr3:40528385A>T	ENST00000314686.5	+	6	741	c.336A>T	c.(334-336)ggA>ggT	p.G112G	ZNF619_ENST00000522736.1_Silent_p.G119G|ZNF619_ENST00000429348.2_Silent_p.G128G|ZNF619_ENST00000521353.1_Silent_p.G168G|ZNF619_ENST00000432264.2_Silent_p.G128G|ZNF619_ENST00000447116.2_Silent_p.G168G|ZNF619_ENST00000456778.1_Silent_p.G84G|ZNF619_ENST00000520737.1_3'UTR			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TAGTGGAGGGACTGCTGATGG	0.443																																																0													65	66	66					3																	40528385		2203	4300	6503	SO:0001819	synonymous_variant	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.336A>T	3.37:g.40528385A>T			B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	37																																																																																					0.443	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		T	40528385	A	T	40528385	2	4	145	1	0	0	0	0	0	0	0	1	18048	262	10	5		5	ZNF619	3	40528385	Silent	SNP	A	TCGA-B0-4817-01A-01D-1361-10		40528385	157494045	8	8589											
PTPN23	25930	hgsc.bcm.edu	37	3	47449932	47449932	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr3:47449932C>A	ENST00000265562.4	+	15	1359	c.1282C>A	c.(1282-1284)Ctc>Atc	p.L428I	PTPN23_ENST00000431726.1_Missense_Mutation_p.L302I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	428					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGCGCGGCTCTCAGCGTCCG	0.577																																																0													95	81	85					3																	47449932		2203	4300	6503	SO:0001583	missense	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1282C>A	3.37:g.47449932C>A	ENSP00000265562:p.Leu428Ile		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981630	0.74474	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.29917	1.55	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.74647	2.275	0.80722	D	1	B;D	0.71674	0.079;0.998	B;D	0.67548	0.408;0.952	T	0.60571	-0.7237	10	0.66056	D	0.02	-30.3846	15.8363	0.78799	0.0:1.0:0.0:0.0	.	302;428	B4DST5;Q9H3S7	.;PTN23_HUMAN	I	393;428	ENSP00000265562:L428I	ENSP00000265562:L428I	L	+	1	0	PTPN23	47424936	1.000000	0.71417	0.970000	0.41538	0.295000	0.27426	7.567000	0.82357	2.274000	0.75844	0.557000	0.71058	CTC		0.577	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		A	47449932	C	A	47449932	3	1	145	1	0	0	0	0	1	0	0	0	12794	913	32	4	1340	4	PTPN23	3	47449932	Missense_Mutation	SNP	C	TCGA-B0-4817-01A-01D-1361-10	6921547	47449932	150572498	9	8590											
DOCK3	1795	hgsc.bcm.edu	37	3	51400103	51400103	+	Missense_Mutation	SNP	G	G	A	rs375984390		TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr3:51400103G>A	ENST00000266037.9	+	49	5314	c.5291G>A	c.(5290-5292)cGa>cAa	p.R1764Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1764	Ser-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1764Q(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCAGTGCCCGAGGTAAGGAT	0.562																																																1	Substitution - Missense(1)	ovary(1)											45	46	46					3																	51400103		2033	4194	6227	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5291G>A	3.37:g.51400103G>A	ENSP00000266037:p.Arg1764Gln		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281009	0.95489	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.22134	1.97	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	M	0.72118	2.19	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.23868	-1.0176	10	0.11794	T	0.64	.	19.2304	0.93836	0.0:0.0:1.0:0.0	.	1764	Q8IZD9	DOCK3_HUMAN	Q	1764;560	ENSP00000266037:R1764Q	ENSP00000266037:R1764Q	R	+	2	0	DOCK3	51375143	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.395000	0.97266	2.605000	0.88082	0.563000	0.77884	CGA		0.562	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		A	51400103	G	A	51400103	3	1	145	1	0	0	0	0	1	0	0	0	4690	1058	37	1	5485	1	DOCK3	3	51400103	Missense_Mutation	SNP	G	TCGA-B0-4817-01A-01D-1361-10	3950171	51400103	146622327	10	8591											
XRN1	54464	hgsc.bcm.edu;ucsc.edu	37	3	142051287	142051287	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr3:142051287T>A	ENST00000264951.4	-	36	4266	c.4149A>T	c.(4147-4149)gaA>gaT	p.E1383D	XRN1_ENST00000392981.2_Missense_Mutation_p.E1384D	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1383					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AAACAGGGATTTCATTAGCAA	0.318																																																0													129	122	124					3																	142051287		2203	4300	6503	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4149A>T	3.37:g.142051287T>A	ENSP00000264951:p.Glu1383Asp		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	9.172	1.021399	0.19433	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.32272	1.46;1.46	5.76	3.36	0.38483	.	0.420734	0.27486	N	0.019146	T	0.15003	0.0362	N	0.14661	0.345	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.003	T	0.09058	-1.0692	10	0.27082	T	0.32	-10.4744	5.1503	0.15005	0.1402:0.1486:0.0:0.7112	.	1384;1383	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	D	1383;1384	ENSP00000264951:E1383D;ENSP00000376707:E1384D	ENSP00000264951:E1383D	E	-	3	2	XRN1	143533977	0.965000	0.33210	0.670000	0.29842	0.340000	0.28889	1.476000	0.35420	0.448000	0.26722	0.459000	0.35465	GAA		0.318	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		A	142051287	T	A	142051287	3	1	145	1	0	0	0	0	1	0	0	0	17464	1838	64	5	999	5	XRN1	3	142051287	Missense_Mutation	SNP	T	TCGA-B0-4817-01A-01D-1361-10	90651184	142051287	55971143	11	8592											
ATP13A5	344905	hgsc.bcm.edu;ucsc.edu	37	3	193036861	193036861	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr3:193036861G>A	ENST00000342358.4	-	17	2069	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	651						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCCTTGCACCGTGTAACTCCT	0.473																																																0													154	156	155					3																	193036861		2203	4300	6503	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1952C>T	3.37:g.193036861G>A	ENSP00000341942:p.Thr651Met		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716744	0.68844	.	.	ENSG00000187527	ENST00000342358	T	0.70631	-0.5	5.89	5.89	0.94794	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000001	D	0.88926	0.6570	M	0.94142	3.5	0.47511	D	0.999447	D	0.89917	1.0	D	0.91635	0.999	D	0.91295	0.5062	10	0.87932	D	0	-14.8043	17.7418	0.88409	0.0:0.0:1.0:0.0	.	651	Q4VNC0	AT135_HUMAN	M	651	ENSP00000341942:T651M	ENSP00000341942:T651M	T	-	2	0	ATP13A5	194519555	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	7.714000	0.84703	2.790000	0.95986	0.655000	0.94253	ACG		0.473	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		A	193036861	G	A	193036861	3	1	145	1	0	0	0	0	1	0	0	0	1127	1145	40	1	1758	1	ATP13A5	3	193036861	Missense_Mutation	SNP	G	TCGA-B0-4817-01A-01D-1361-10	50985574	193036861	4985569	12	8593											
JAKMIP1	152789	hgsc.bcm.edu	37	4	6087193	6087193	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr4:6087193T>C	ENST00000282924.5	-	4	1273	c.788A>G	c.(787-789)gAg>gGg	p.E263G	JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E263G|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E98G|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E263G|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E98G	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	263	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCGGGAGCTCTCTCTTTGG	0.627																																																0													59	61	60					4																	6087193		2203	4300	6503	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.788A>G	4.37:g.6087193T>C	ENSP00000282924:p.Glu263Gly		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805936	0.70682	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.29	4.29	0.51040	.	0.000000	0.56097	D	0.000022	T	0.59770	0.2218	M	0.79258	2.445	0.50467	D	0.99987	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.996;0.991;0.991;0.991;0.996	T	0.65586	-0.6132	10	0.87932	D	0	.	12.7897	0.57526	0.0:0.0:0.0:1.0	.	98;263;98;263;263	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	G	263;98;263;263;155;263;263;98	ENSP00000386711:E263G;ENSP00000387042:E98G;ENSP00000282924:E263G;ENSP00000386925:E263G;ENSP00000386745:E98G	ENSP00000282924:E263G	E	-	2	0	JAKMIP1	6138094	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	7.400000	0.79949	1.818000	0.53035	0.533000	0.62120	GAG		0.627	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		C	6087193	T	C	6087193	3	2	145	1	0	0	0	0	1	0	0	0	7942	1551	54	3	1854	3	JAKMIP1	4	6087193	Missense_Mutation	SNP	T	TCGA-B0-4817-01A-01D-1361-10		6087193	185067083	13	8594											
SAP30	8819	hgsc.bcm.edu	37	4	174292632	174292632	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr4:174292632T>C	ENST00000296504.3	+	1	539	c.299T>C	c.(298-300)aTc>aCc	p.I100T	RP11-798M19.6_ENST00000609153.1_RNA|RP11-798M19.6_ENST00000608794.1_RNA|RP11-798M19.6_ENST00000608892.1_RNA|RP11-798M19.6_ENST00000609900.1_RNA	NM_003864.3	NP_003855.1			Sin3A-associated protein, 30kDa											large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		AAGGTGAAGATCGAGCTGGAT	0.672																																																0													31	30	30					4																	174292632		2188	4276	6464	SO:0001583	missense	8819			AF055993	CCDS3817.1	4q34.1	2008-02-05	2006-02-02		ENSG00000164105	ENSG00000164105			10532	protein-coding gene	gene with protein product		603378	"sin3A-associated protein, 30kDa"			9651585	Standard	NM_003864		Approved		uc003itd.3	O75446	OTTHUMG00000160798	ENST00000296504.3:c.299T>C	4.37:g.174292632T>C	ENSP00000296504:p.Ile100Thr			Missense_Mutation	SNP	ENST00000296504.3	37	CCDS3817.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431197	0.83776	.	.	ENSG00000164105	ENST00000296504	.	.	.	4.24	3.02	0.34903	.	0.189823	0.35291	N	0.003315	T	0.49047	0.1534	L	0.38175	1.15	0.51233	D	0.999916	P	0.47841	0.901	P	0.49421	0.61	T	0.47935	-0.9078	9	0.87932	D	0	-24.6958	9.5964	0.39576	0.1571:0.0:0.0:0.8429	.	100	O75446	SAP30_HUMAN	T	100	.	ENSP00000296504:I100T	I	+	2	0	SAP30	174529207	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.369000	0.79578	0.479000	0.27511	0.379000	0.24179	ATC		0.672	SAP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362360.1	NM_003864		C	174292632	T	C	174292632	3	2	145	1	0	0	0	0	1	0	0	0	13839	1435	50	3	301	3	SAP30	4	174292632	Missense_Mutation	SNP	T	TCGA-B0-4817-01A-01D-1361-10	168205439	174292632	16861644	14	8595											
MGC42105	167359	hgsc.bcm.edu	37	5	43280310	43280310	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr5:43280310A>G	ENST00000512796.1	+	4	2289	c.790A>G	c.(790-792)Atg>Gtg	p.M264V	NIM1_ENST00000326035.2_Missense_Mutation_p.M264V			Q8IY84	NIM1_HUMAN		264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										TTTGTACTTCATGGTGACTGG	0.562																																																0													88	77	80					5																	43280310		2203	4300	6503	SO:0001583	missense	0																														ENST00000512796.1:c.790A>G	5.37:g.43280310A>G	ENSP00000420849:p.Met264Val		B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013899	0.75161	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.27256	1.68;1.68	5.73	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042426	0.85682	D	0.000000	T	0.52108	0.1714	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.57260	-0.7842	10	0.87932	D	0	.	12.9724	0.58520	0.8648:0.1352:0.0:0.0	.	264	Q8IY84	NIM1_HUMAN	V	264	ENSP00000313572:M264V;ENSP00000420849:M264V	ENSP00000313572:M264V	M	+	1	0	AC114947.1	43316067	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.520000	0.81821	0.987000	0.38709	0.533000	0.62120	ATG		0.562	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			G	43280310	A	G	43280310	3	3	145	1	0	0	0	0	1	0	0	0	9554	217	8	3	800	3	MGC42105	5	43280310	Missense_Mutation	SNP	A	TCGA-B0-4817-01A-01D-1361-10		43280310	137634950	15	8596											
PWWP2A	114825	hgsc.bcm.edu	37	5	159520688	159520688	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr5:159520688A>T	ENST00000307063.7	-	2	1003	c.969T>A	c.(967-969)gaT>gaA	p.D323E	PWWP2A_ENST00000523662.1_Missense_Mutation_p.D323E|PWWP2A_ENST00000456329.3_Missense_Mutation_p.D323E	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	323										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTTACATTTATCACACAGAA	0.353																																																0													123	109	114					5																	159520688		1830	4095	5925	SO:0001583	missense	114825				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.969T>A	5.37:g.159520688A>T	ENSP00000305151:p.Asp323Glu		G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000307063.7	37	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	A	7.608	0.674192	0.14841	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.38401	1.14;1.14;1.14	5.27	1.07	0.20283	.	0.098794	0.64402	D	0.000002	T	0.20941	0.0504	N	0.11673	0.155	0.48632	D	0.999682	D;P;P	0.56521	0.976;0.884;0.884	P;B;B	0.49085	0.6;0.292;0.292	T	0.03717	-1.1010	10	0.10636	T	0.68	-14.8781	9.6014	0.39607	0.344:0.0:0.656:0.0	.	323;323;323	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	E	323	ENSP00000390462:D323E;ENSP00000428143:D323E;ENSP00000305151:D323E	ENSP00000305151:D323E	D	-	3	2	PWWP2A	159453266	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	1.281000	0.33214	0.217000	0.20800	-0.371000	0.07208	GAT		0.353	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			T	159520688	A	T	159520688	3	4	145	1	0	0	0	0	1	0	0	0	12851	446	16	5	1444	5	PWWP2A	5	159520688	Missense_Mutation	SNP	A	TCGA-B0-4817-01A-01D-1361-10	116240378	159520688	21394572	16	8597											
MOCS1	4337	hgsc.bcm.edu	37	6	39893450	39893450	+	Silent	SNP	A	A	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr6:39893450A>T	ENST00000340692.5	-	3	393	c.390T>A	c.(388-390)ctT>ctA	p.L130L	MOCS1_ENST00000432280.2_Silent_p.L101L|MOCS1_ENST00000373186.4_Silent_p.L130L|MOCS1_ENST00000373195.3_Silent_p.L43L|MOCS1_ENST00000373175.4_Silent_p.L101L|MOCS1_ENST00000373188.2_Silent_p.L130L|MOCS1_ENST00000425303.2_Silent_p.L130L|MOCS1_ENST00000308559.7_Silent_p.L130L			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	130	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCGGCCGGATAAGCGGCTCTC	0.592																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)											0													61	55	57					6																	39893450		2203	4293	6496	SO:0001819	synonymous_variant	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.390T>A	6.37:g.39893450A>T			B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37																																																																																					0.592	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		T	39893450	A	T	39893450	2	4	145	1	0	0	0	0	0	0	0	1	9692	349	13	5		5	MOCS1	6	39893450	Silent	SNP	A	TCGA-B0-4817-01A-01D-1361-10		39893450	131221617	17	8598											
RIMS1	22999	hgsc.bcm.edu	37	6	73000565	73000565	+	Splice_Site	SNP	G	G	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr6:73000565G>A	ENST00000521978.1	+	25	3737		c.e25+1		RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000425662.2_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTCTGACAAGGTCGCTATTCA	0.537																																																0													64	66	65					6																	73000565		2132	4242	6374	SO:0001630	splice_region_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3737+1G>A	6.37:g.73000565G>A			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Splice_Site	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154260	0.78114	.	.	ENSG00000079841	ENST00000521978	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.403	0.87465	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIMS1	73057286	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.645000	0.74343	2.640000	0.89533	0.563000	0.77884	.		0.537	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		Intron	A	73000565	G	A	73000565	5	1	145	1	0	0	0	0	0	0	1	0	13373	1275	44	2	3999	2	RIMS1	6	73000565	Splice_Site	SNP	G	TCGA-B0-4817-01A-01D-1361-10	33107115	73000565	98114502	18	8599											
SFRS18	25957	hgsc.bcm.edu	37	6	99848473	99848473	+	Silent	SNP	A	A	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr6:99848473A>T	ENST00000369239.5	-	12	2565	c.2361T>A	c.(2359-2361)tcT>tcA	p.S787S	PNISR_ENST00000438806.1_Silent_p.S787S	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	787	Ser-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAGACCTTTGAGATTTCTCCA	0.398																																																0													189	190	190					6																	99848473		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.2361T>A	6.37:g.99848473A>T			A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Silent	SNP	ENST00000369239.5	37	CCDS5043.1																																																																																				0.398	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		T	99848473	A	T	99848473	2	4	145	1	0	0	0	0	0	0	0	1	14180	291	11	5		5	SFRS18	6	99848473	Silent	SNP	A	TCGA-B0-4817-01A-01D-1361-10	26847908	99848473	71266594	19	8600											
NKAIN2	154215	hgsc.bcm.edu;ucsc.edu	37	6	124979433	124979433	+	Silent	SNP	C	C	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr6:124979433C>T	ENST00000368417.1	+	4	435	c.375C>T	c.(373-375)gaC>gaT	p.D125D	NKAIN2_ENST00000368416.1_Silent_p.D125D|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Silent_p.D110D	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CTGCCCCAGACTGGGCCCCAG	0.507																																																0													158	128	138					6																	124979433		2203	4300	6503	SO:0001819	synonymous_variant	154215			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"Na+/K+ transporting ATPase interacting"	16443	protein-coding gene	gene with protein product		609758	"T-cell lymphoma breakpoint associated target 1"	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.375C>T	6.37:g.124979433C>T			Q8IYR4|Q8TF67	Silent	SNP	ENST00000368417.1	37	CCDS34526.1																																																																																				0.507	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		T	124979433	C	T	124979433	2	4	145	1	0	0	0	0	0	0	0	1	10438	564	20	2		2	NKAIN2	6	124979433	Silent	SNP	C	TCGA-B0-4817-01A-01D-1361-10	25130960	124979433	46135634	20	8601											
FKBP9	11328	hgsc.bcm.edu	37	7	33039811	33039811	+	Silent	SNP	C	C	T	rs201284807		TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr7:33039811C>T	ENST00000242209.4	+	8	1480	c.1311C>T	c.(1309-1311)tgC>tgT	p.C437C	FKBP9_ENST00000538336.1_Silent_p.C490C|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.C299C|FKBP9_ENST00000490776.2_Silent_p.C205C|RNU6-388P_ENST00000517012.1_RNA	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	437	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GAGAGATGTGCGTTGGCGAGA	0.512																																																0													109	102	104					7																	33039811		2203	4297	6500	SO:0001819	synonymous_variant	11328			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1311C>T	7.37:g.33039811C>T			B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	CCDS5439.1																																																																																				0.512	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		T	33039811	C	T	33039811	2	4	145	1	0	0	0	0	0	0	0	1	5917	776	27	1		1	FKBP9	7	33039811	Silent	SNP	C	TCGA-B0-4817-01A-01D-1361-10		33039811	126098852	21	8602											
GTF2I	2969	hgsc.bcm.edu;ucsc.edu	37	7	74129238	74129238	+	Splice_Site	SNP	T	T	C			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr7:74129238T>C	ENST00000324896.4	+	10	1212		c.e10+2		GTF2I_ENST00000416070.1_Intron|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Intron|GTF2I_ENST00000346152.4_Splice_Site|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000443166.1_Intron|AC083884.8_ENST00000594967.1_RNA	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi						negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CTTTGCAAGGTATAATCTTTT	0.358																																																0													128	124	125					7																	74129238		2203	4300	6503	SO:0001630	splice_region_variant	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.823+2T>C	7.37:g.74129238T>C			O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Splice_Site	SNP	ENST00000324896.4	37	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.373508	0.24857	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000346152	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7509	0.51847	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GTF2I	73767174	1.000000	0.71417	0.996000	0.52242	0.161000	0.22273	3.650000	0.54424	2.258000	0.74832	0.533000	0.62120	.		0.358	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999	Intron	C	74129238	T	C	74129238	5	2	145	1	0	0	0	0	0	0	1	0	6869	1652	57	3	859	3	GTF2I	7	74129238	Splice_Site	SNP	T	TCGA-B0-4817-01A-01D-1361-10	41089427	74129238	85009425	22	8603											
C7orf58	79974	hgsc.bcm.edu;ucsc.edu	37	7	120907350	120907350	+	Silent	SNP	A	A	G			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr7:120907350A>G	ENST00000310396.5	+	21	3182	c.2715A>G	c.(2713-2715)ttA>ttG	p.L905L		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	905						endoplasmic reticulum (GO:0005783)											tacatttcttaacacaggtaa	0.373																																																0													69	65	67					7																	120907350		2193	4288	6481	SO:0001819	synonymous_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2715A>G	7.37:g.120907350A>G			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	CCDS34739.1																																																																																				0.373	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		G	120907350	A	G	120907350	2	3	145	1	0	0	0	0	0	0	0	1	2407	359	13	3		3	C7orf58	7	120907350	Silent	SNP	A	TCGA-B0-4817-01A-01D-1361-10	46778112	120907350	38231313	23	8604											
EZH2	2146	hgsc.bcm.edu;ucsc.edu	37	7	148506483	148506483	+	Splice_Site	SNP	C	C	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr7:148506483C>T	ENST00000460911.1	-	18	2103		c.e18-1		EZH2_ENST00000541220.1_Splice_Site|EZH2_ENST00000350995.2_Splice_Site|EZH2_ENST00000478654.1_Splice_Site|EZH2_ENST00000483967.1_Splice_Site|EZH2_ENST00000476773.1_Splice_Site|EZH2_ENST00000320356.2_Splice_Site			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit						cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACCACAAAATCTAAAAAGAAA	0.363			Mis		DLBCL																																		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													76	79	78					7																	148506483		2203	4300	6503	SO:0001630	splice_region_variant	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2015-1G>A	7.37:g.148506483C>T			B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Splice_Site	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298651	0.81025	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5938	0.91223	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EZH2	148137416	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	7.574000	0.82434	2.375000	0.81037	0.655000	0.94253	.		0.363	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	Intron	T	148506483	C	T	148506483	5	4	145	1	0	0	0	0	0	0	1	0	5336	927	32	2	238	2	EZH2	7	148506483	Splice_Site	SNP	C	TCGA-B0-4817-01A-01D-1361-10	27599133	148506483	10632180	24	8605											
SSPO	23145	hgsc.bcm.edu	37	7	149516805	149516805	+	RNA	SNP	G	G	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr7:149516805G>A	ENST00000378016.2	+	0	12007							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTTCCCACAGTGCCCGGGGG	0.667																																																0													10	12	11					7																	149516805		1593	3529	5122			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516805G>A			Q76B61	Splice_Site	SNP	ENST00000378016.2	37																																																																																					0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149516805	G	A	149516805	1	1	145	0	1	0	0	0	0	0	0	0	15194	1043	36	2		2	SSPO	7	149516805	RNA	SNP	G	TCGA-B0-4817-01A-01D-1361-10	1010322	149516805	9621858	25	8606											
ACTR3B	57180	hgsc.bcm.edu	37	7	152522195	152522195	+	Silent	SNP	C	C	T	rs200914813	byFrequency	TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr7:152522195C>T	ENST00000256001.8	+	9	1073	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ACTR3B_ENST00000377776.3_Silent_p.R313R|ACTR3B_ENST00000537264.1_Silent_p.R225R|ACTR3B_ENST00000397282.2_Silent_p.R225R	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	313						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ATGTGCGGCGCCCGCTGTATA	0.413																																																0													85	79	81					7																	152522195		2203	4300	6503	SO:0001819	synonymous_variant	57180				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.939C>T	7.37:g.152522195C>T			A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	ENST00000256001.8	37	CCDS5934.1																																																																																				0.413	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		T	152522195	C	T	152522195	2	4	145	1	0	0	0	0	0	0	0	1	213	726	26	2		2	ACTR3B	7	152522195	Silent	SNP	C	TCGA-B0-4817-01A-01D-1361-10	3005390	152522195	6616468	26	8607											
ESYT2	57488	hgsc.bcm.edu	37	7	158529819	158529819	+	Silent	SNP	A	A	G			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr7:158529819A>G	ENST00000251527.5	-	19	2465	c.2400T>C	c.(2398-2400)taT>taC	p.Y800Y	ESYT2_ENST00000435514.2_Silent_p.Y235Y	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	828	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CTGGTAATAAATACATGCGGA	0.428																																																0													159	141	147					7																	158529819		2203	4300	6503	SO:0001819	synonymous_variant	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2400T>C	7.37:g.158529819A>G			A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	ENST00000251527.5	37	CCDS34791.1																																																																																				0.428	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		G	158529819	A	G	158529819	2	3	145	1	0	0	0	0	0	0	0	1	5267	108	4	3		3	ESYT2	7	158529819	Silent	SNP	A	TCGA-B0-4817-01A-01D-1361-10	6007624	158529819	608844	27	8608											
NRG1	3084	hgsc.bcm.edu	37	8	32621790	32621790	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr8:32621790G>C	ENST00000405005.3	+	12	1793	c.1793G>C	c.(1792-1794)aGt>aCt	p.S598T	NRG1_ENST00000287845.5_Missense_Mutation_p.S569T|NRG1_ENST00000539990.1_Missense_Mutation_p.S441T|NRG1_ENST00000356819.4_Missense_Mutation_p.S603T|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000338921.4_Missense_Mutation_p.S606T|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.S595T|NRG1_ENST00000519301.1_Missense_Mutation_p.S548T			Q02297	NRG1_HUMAN	neuregulin 1	598					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTGGCAGCCAGTCTTGAGGCA	0.542																																																0													56	62	60					8																	32621790		2203	4300	6503	SO:0001583	missense	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1793G>C	8.37:g.32621790G>C	ENSP00000384620:p.Ser598Thr		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087141	0.36855	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.95	5.08	0.68730	Neuregulin 1-related, C-terminal (1);	0.242622	0.48286	D	0.000188	T	0.56529	0.1991	L	0.40543	1.245	0.09310	N	0.999999	P;B;B;B;P;P;B	0.41450	0.583;0.246;0.29;0.013;0.75;0.453;0.246	B;B;P;B;P;P;B	0.48114	0.401;0.354;0.555;0.022;0.474;0.567;0.419	T	0.50750	-0.8791	9	.	.	.	-0.0746	12.3887	0.55347	0.1353:0.0:0.8647:0.0	.	441;569;603;606;595;598;603	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	T	548;671;606;603;598;569;595;598;441	ENSP00000429582:S548T;ENSP00000429067:S671T;ENSP00000343395:S606T;ENSP00000349275:S603T;ENSP00000287840:S598T;ENSP00000287845:S569T;ENSP00000287842:S595T;ENSP00000384620:S598T;ENSP00000439276:S441T	.	S	+	2	0	NRG1	32741332	0.984000	0.35163	0.444000	0.26895	0.969000	0.65631	1.988000	0.40697	1.532000	0.49169	0.563000	0.77884	AGT		0.542	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			C	32621790	G	C	32621790	3	2	145	1	0	0	0	0	1	0	0	0	10649	1029	36	4	3564	4	NRG1	8	32621790	Missense_Mutation	SNP	G	TCGA-B0-4817-01A-01D-1361-10		32621790	113742232	28	8609											
C9orf82	79886	hgsc.bcm.edu;ucsc.edu	37	9	26861129	26861129	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr9:26861129A>C	ENST00000333916.5	-	5	762	c.674T>G	c.(673-675)aTc>aGc	p.I225S	CAAP1_ENST00000520187.1_Intron|CAAP1_ENST00000495958.1_5'UTR|CAAP1_ENST00000535437.1_Missense_Mutation_p.I80S	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	225					apoptotic process (GO:0006915)												ATCTATACAGATGTCTTGCCT	0.333																																																0													94	102	99					9																	26861129		2203	4300	6503	SO:0001583	missense	0			BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"conserved anti-apoptotic protein"		"chromosome 9 open reading frame 82"	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.674T>G	9.37:g.26861129A>C	ENSP00000369431:p.Ile225Ser		B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Missense_Mutation	SNP	ENST00000333916.5	37	CCDS6516.1	.	.	.	.	.	.	.	.	.	.	A	5.398	0.258576	0.10239	.	.	ENSG00000120159	ENST00000333916;ENST00000535437	T;T	0.41065	1.01;1.07	5.71	-3.52	0.04682	.	0.489534	0.22272	N	0.062241	T	0.10594	0.0259	N	0.03608	-0.345	0.22581	N	0.998967	B	0.02656	0.0	B	0.04013	0.001	T	0.25537	-1.0129	10	0.05351	T	0.99	2.1984	1.708	0.02886	0.1761:0.2608:0.379:0.1841	.	225	Q9H8G2	CI082_HUMAN	S	225;80	ENSP00000369431:I225S;ENSP00000444885:I80S	ENSP00000369431:I225S	I	-	2	0	C9orf82	26851129	0.084000	0.21492	0.524000	0.27887	0.981000	0.71138	0.031000	0.13710	-0.384000	0.07845	0.377000	0.23210	ATC		0.333	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		C	26861129	A	C	26861129	3	2	145	1	0	0	0	0	1	0	0	0	2501	333	12	5	419	5	C9orf82	9	26861129	Missense_Mutation	SNP	A	TCGA-B0-4817-01A-01D-1361-10		26861129	114352302	29	8610											
CH25H	9023	hgsc.bcm.edu;ucsc.edu	37	10	90966472	90966472	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr10:90966472A>T	ENST00000371852.2	-	1	599	c.578T>A	c.(577-579)cTc>cAc	p.L193H		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	193					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GTGGCACCCGAGCAGTGTGAC	0.567																																																0													156	150	152					10																	90966472		2203	4300	6503	SO:0001583	missense	9023			AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"Fatty acid hydroxylase domain containing"	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.578T>A	10.37:g.90966472A>T	ENSP00000360918:p.Leu193His		B2RBY3	Missense_Mutation	SNP	ENST00000371852.2	37	CCDS7400.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525267	0.85600	.	.	ENSG00000138135	ENST00000371852	D	0.85556	-2.0	4.99	4.99	0.66335	Fatty acid hydroxylase (1);	0.069987	0.56097	D	0.000025	D	0.93452	0.7911	M	0.91612	3.225	0.53688	D	0.999972	D	0.89917	1.0	D	0.81914	0.995	D	0.94266	0.7506	10	0.52906	T	0.07	-52.109	14.5742	0.68235	1.0:0.0:0.0:0.0	.	193	O95992	CH25H_HUMAN	H	193	ENSP00000360918:L193H	ENSP00000360918:L193H	L	-	2	0	CH25H	90956452	1.000000	0.71417	0.849000	0.33467	0.988000	0.76386	9.104000	0.94239	2.179000	0.69175	0.460000	0.39030	CTC		0.567	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049291.1	NM_003956		T	90966472	A	T	90966472	3	4	145	1	0	0	0	0	1	0	0	0	3309	304	11	5	244	5	CH25H	10	90966472	Missense_Mutation	SNP	A	TCGA-B0-4817-01A-01D-1361-10		90966472	44568275	30	8611											
OR10A3	26496	hgsc.bcm.edu;ucsc.edu	37	11	7960851	7960851	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr11:7960851A>C	ENST00000360759.3	-	1	290	c.217T>G	c.(217-219)Ttc>Gtc	p.F73V		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	73					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)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTGCACTGAAACTCACCTCC	0.453																																																0													133	119	123					11																	7960851		2201	4296	6497	SO:0001583	missense	26496			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.217T>G	11.37:g.7960851A>C	ENSP00000353988:p.Phe73Val		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.442821	0.25987	.	.	ENSG00000170683	ENST00000360759	T	0.00380	7.64	4.95	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.163850	0.28093	U	0.016628	T	0.00300	0.0009	L	0.48935	1.535	0.19300	N	0.999978	B	0.25105	0.118	B	0.21546	0.035	T	0.43065	-0.9414	10	0.87932	D	0	.	9.5207	0.39133	0.842:0.0:0.0:0.1579	.	73	P58181	O10A3_HUMAN	V	73	ENSP00000353988:F73V	ENSP00000353988:F73V	F	-	1	0	OR10A3	7917427	0.001000	0.12720	0.998000	0.56505	0.496000	0.33645	1.610000	0.36869	1.006000	0.39211	0.528000	0.53228	TTC		0.453	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		C	7960851	A	C	7960851	3	2	145	1	0	0	0	0	1	0	0	0	10893	14	1	5	730	5	OR10A3	11	7960851	Missense_Mutation	SNP	A	TCGA-B0-4817-01A-01D-1361-10		7960851	127045665	31	8612											
LRP4	4038	hgsc.bcm.edu	37	11	46914588	46914588	+	Missense_Mutation	SNP	G	G	A	rs371763360		TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr11:46914588G>A	ENST00000378623.1	-	13	1875	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	545					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AACACTTTCCGGTGGGCCCCA	0.582																																																0								G	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	46	42	44		1633	1.5	1	11		44	0,8598		0,0,4299	no	missense	LRP4	NM_002334.3	101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	545/1906	46914588	1,12999	2201	4299	6500	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1633C>T	11.37:g.46914588G>A	ENSP00000367888:p.Arg545Trp		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010275	0.75046	2.27E-4	0.0	ENSG00000134569	ENST00000378623	D	0.97665	-4.48	5.73	1.5	0.22942	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	H	0.99211	4.47	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99243	1.0885	10	0.72032	D	0.01	.	16.6463	0.85178	0.0:0.0:0.3395:0.6605	.	545	O75096	LRP4_HUMAN	W	545	ENSP00000367888:R545W	ENSP00000367888:R545W	R	-	1	2	LRP4	46871164	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	2.263000	0.43293	0.013000	0.14918	-0.314000	0.08810	CGG		0.582	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46914588	G	A	46914588	3	1	145	1	0	0	0	0	1	0	0	0	8961	1115	39	1	4188	1	LRP4	11	46914588	Missense_Mutation	SNP	G	TCGA-B0-4817-01A-01D-1361-10	38953737	46914588	88091928	32	8613											
SIAE	54414	hgsc.bcm.edu;ucsc.edu	37	11	124509622	124509622	+	Missense_Mutation	SNP	C	C	A	rs146397917	byFrequency	TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr11:124509622C>A	ENST00000263593.3	-	8	1280	c.1108G>T	c.(1108-1110)Gac>Tac	p.D370Y	SIAE_ENST00000545756.1_Missense_Mutation_p.D335Y			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	370					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		AAAGGCGAGTCTCTATCACAG	0.473																																																0													180	150	160					11																	124509622		2201	4299	6500	SO:0001583	missense	54414			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.1108G>T	11.37:g.124509622C>A	ENSP00000263593:p.Asp370Tyr		B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588355	0.46110	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.94897	-3.55;-3.55	5.92	-1.39	0.08997	Esterase, SGNH hydrolase-type (1);	0.723646	0.13808	N	0.361286	D	0.90573	0.7045	L	0.31120	0.905	0.09310	N	1	P	0.41597	0.756	P	0.45681	0.49	T	0.83334	-0.0011	10	0.37606	T	0.19	-20.9485	11.5006	0.50435	0.0:0.4272:0.0:0.5728	.	370	Q9HAT2	SIAE_HUMAN	Y	370;335	ENSP00000263593:D370Y;ENSP00000437877:D335Y	ENSP00000263593:D370Y	D	-	1	0	SIAE	124014832	0.000000	0.05858	0.002000	0.10522	0.648000	0.38561	-0.186000	0.09670	-0.169000	0.10834	0.650000	0.86243	GAC		0.473	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		A	124509622	C	A	124509622	3	1	145	1	0	0	0	0	1	0	0	0	14304	913	32	4	475	4	SIAE	11	124509622	Missense_Mutation	SNP	C	TCGA-B0-4817-01A-01D-1361-10	77595034	124509622	10496894	33	8614											
PAN2	9924	hgsc.bcm.edu	37	12	56720445	56720445	+	Silent	SNP	T	T	C			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr12:56720445T>C	ENST00000425394.2	-	7	1594	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	PAN2_ENST00000257931.5_Silent_p.T406T|PAN2_ENST00000440411.3_Silent_p.T406T|PAN2_ENST00000548043.1_Silent_p.T406T	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CAGAGAGAAGTGTGTCAGTGG	0.587																																																0													60	53	55					12																	56720445		2203	4299	6502	SO:0001819	synonymous_variant	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1218A>G	12.37:g.56720445T>C				Silent	SNP	ENST00000425394.2	37	CCDS44922.1																																																																																				0.587	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		C	56720445	T	C	56720445	2	2	145	1	0	0	0	0	0	0	0	1	11416	1683	59	3		3	PAN2	12	56720445	Silent	SNP	T	TCGA-B0-4817-01A-01D-1361-10		56720445	77131450	34	8615											
NXPH4	11247	hgsc.bcm.edu	37	12	57619000	57619000	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr12:57619000A>T	ENST00000349394.5	+	2	572	c.397A>T	c.(397-399)Aac>Tac	p.N133Y	NXPH4_ENST00000555154.1_3'UTR|Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	133	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GGACCATGTGAACGGTACCTT	0.582																																																0													79	62	67					12																	57619000		2203	4300	6503	SO:0001583	missense	11247			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.397A>T	12.37:g.57619000A>T	ENSP00000333593:p.Asn133Tyr		A8K4I4|Q7Z6L3|Q8N462	Missense_Mutation	SNP	ENST00000349394.5	37	CCDS8933.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138000	0.77775	.	.	ENSG00000182379	ENST00000349394	.	.	.	3.97	3.97	0.46021	.	0.000000	0.53938	D	0.000060	T	0.76227	0.3958	M	0.71036	2.16	0.48185	D	0.999608	D	0.89917	1.0	D	0.91635	0.999	T	0.79329	-0.1848	9	0.87932	D	0	-12.8347	12.2539	0.54613	1.0:0.0:0.0:0.0	.	133	O95158	NXPH4_HUMAN	Y	133	.	ENSP00000333593:N133Y	N	+	1	0	NXPH4	55905267	1.000000	0.71417	0.997000	0.53966	0.899000	0.52679	8.761000	0.91691	1.794000	0.52575	0.379000	0.24179	AAC		0.582	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		T	57619000	A	T	57619000	3	4	145	1	0	0	0	0	1	0	0	0	10795	246	9	5	403	5	NXPH4	12	57619000	Missense_Mutation	SNP	A	TCGA-B0-4817-01A-01D-1361-10	898555	57619000	76232895	35	8616											
SHMT2	6472	hgsc.bcm.edu;ucsc.edu	37	12	57625269	57625269	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr12:57625269C>A	ENST00000328923.3	+	3	689	c.237C>A	c.(235-237)ttC>ttA	p.F79L	SHMT2_ENST00000449049.3_Missense_Mutation_p.F58L|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Missense_Mutation_p.F58L|SHMT2_ENST00000393827.4_Intron|SHMT2_ENST00000553474.1_Missense_Mutation_p.F58L|SHMT2_ENST00000557487.1_Missense_Mutation_p.F79L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	79					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CCCAGAACTTCTGCAGCCGAG	0.622																																					Esophageal Squamous(150;1369 2416 49071 49364)											0													42	43	42					12																	57625269		2203	4300	6503	SO:0001583	missense	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.237C>A	12.37:g.57625269C>A	ENSP00000333667:p.Phe79Leu		B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387402	0.82902	.	.	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737	T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	1.45;0.91;0.91;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	4.49	3.6	0.41247	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	T	0.65335	-0.6193	10	0.72032	D	0.01	.	9.0184	0.36184	0.0:0.8188:0.0:0.1812	.	79;79	Q8N1A5;P34897	.;GLYM_HUMAN	L	79;79;79;58;58;58;58;58;58;58;58;58;58	ENSP00000333667:F79L;ENSP00000452315:F79L;ENSP00000452035:F79L;ENSP00000406881:F58L;ENSP00000450452:F58L;ENSP00000452161:F58L;ENSP00000450893:F58L;ENSP00000452045:F58L;ENSP00000452419:F58L;ENSP00000451968:F58L;ENSP00000452404:F58L;ENSP00000413770:F58L;ENSP00000451495:F58L	ENSP00000333667:F79L	F	+	3	2	SHMT2	55911536	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.956000	0.29202	1.263000	0.44181	0.561000	0.74099	TTC		0.622	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		A	57625269	C	A	57625269	3	1	145	1	0	0	0	0	1	0	0	0	14292	912	32	4	247	4	SHMT2	12	57625269	Missense_Mutation	SNP	C	TCGA-B0-4817-01A-01D-1361-10	6269	57625269	76226626	36	8617											
PRDM4	11108	hgsc.bcm.edu	37	12	108147767	108147767	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr12:108147767T>G	ENST00000228437.5	-	4	724	c.265A>C	c.(265-267)Aac>Cac	p.N89H	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	89					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AGGGTGTAGTTTCTTTCAGGT	0.478																																																0													130	117	121					12																	108147767		2203	4300	6503	SO:0001583	missense	11108			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.265A>C	12.37:g.108147767T>G	ENSP00000228437:p.Asn89His		Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.003664	0.93287	.	.	ENSG00000110851	ENST00000228437	T	0.15834	2.39	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.05716	-1.0868	10	0.87932	D	0	-28.3563	16.192	0.81996	0.0:0.0:0.0:1.0	.	89	Q9UKN5	PRDM4_HUMAN	H	89	ENSP00000228437:N89H	ENSP00000228437:N89H	N	-	1	0	PRDM4	106671897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.795000	0.85887	2.229000	0.72834	0.482000	0.46254	AAC		0.478	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		G	108147767	T	G	108147767	3	3	145	1	0	0	0	0	1	0	0	0	12464	1841	64	5	2176	5	PRDM4	12	108147767	Missense_Mutation	SNP	T	TCGA-B0-4817-01A-01D-1361-10	50522498	108147767	25704128	37	8618											
KCTD10	83892	hgsc.bcm.edu	37	12	109907503	109907503	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr12:109907503A>T	ENST00000228495.6	-	2	315	c.34T>A	c.(34-36)Tca>Aca	p.S12T	KCTD10_ENST00000424763.2_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.S9T	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	12					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GGCACCGCTGAGCTCACCACA	0.557																																																0													67	60	63					12																	109907503		2203	4300	6503	SO:0001583	missense	83892			BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"BTB/POZ domain containing"	23236	protein-coding gene	gene with protein product		613421	"potassium channel tetramerisation domain containing 10"			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.34T>A	12.37:g.109907503A>T	ENSP00000228495:p.Ser12Thr		Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	CCDS9128.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367326	0.61513	.	.	ENSG00000110906	ENST00000228495;ENST00000540411;ENST00000542262;ENST00000542858	T;T;T;T	0.46063	0.88;0.93;0.91;0.92	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	T	0.41190	0.1148	N	0.14661	0.345	0.80722	D	1	B;P;B	0.52577	0.452;0.954;0.323	P;D;P	0.63597	0.68;0.916;0.481	T	0.15896	-1.0421	10	0.07990	T	0.79	-4.2984	14.3043	0.66375	1.0:0.0:0.0:0.0	.	9;12;12	F5GWA4;Q9H3F6-2;Q9H3F6	.;.;BACD3_HUMAN	T	12;9;12;12	ENSP00000228495:S12T;ENSP00000441672:S9T;ENSP00000437348:S12T;ENSP00000445129:S12T	ENSP00000228495:S12T	S	-	1	0	KCTD10	108391886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.252000	0.89840	2.157000	0.67596	0.533000	0.62120	TCA		0.557	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		T	109907503	A	T	109907503	3	4	145	1	0	0	0	0	1	0	0	0	8099	304	11	5	931	5	KCTD10	12	109907503	Missense_Mutation	SNP	A	TCGA-B0-4817-01A-01D-1361-10	1759736	109907503	23944392	38	8619											
ZFYVE26	23503	hgsc.bcm.edu	37	14	68251809	68251809	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr14:68251809C>A	ENST00000347230.4	-	19	3628	c.3490G>T	c.(3490-3492)Gca>Tca	p.A1164S	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1164S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1164			A -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGAGAACTGCAGCAAGGGTG	0.517																																																0													159	167	164					14																	68251809		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3490G>T	14.37:g.68251809C>A	ENSP00000251119:p.Ala1164Ser		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	7.849	0.723526	0.15439	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.24908	1.97;1.83	5.54	1.21	0.21127	.	0.563103	0.19635	N	0.109597	T	0.11580	0.0282	N	0.21448	0.665	0.19575	N	0.999966	B;B	0.19583	0.037;0.006	B;B	0.16289	0.015;0.002	T	0.34527	-0.9825	10	0.06494	T	0.89	-0.4997	5.6463	0.17592	0.1643:0.5817:0.0:0.2539	.	1164;1164	G3V2D8;Q68DK2	.;ZFY26_HUMAN	S	1164;1143;1164	ENSP00000251119:A1164S;ENSP00000450603:A1164S	ENSP00000251119:A1164S	A	-	1	0	ZFYVE26	67321562	0.024000	0.19004	0.246000	0.24233	0.992000	0.81027	0.194000	0.17135	0.287000	0.22375	0.655000	0.94253	GCA		0.517	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		A	68251809	C	A	68251809	3	1	145	1	0	0	0	0	1	0	0	0	17673	710	25	4	4225	4	ZFYVE26	14	68251809	Missense_Mutation	SNP	C	TCGA-B0-4817-01A-01D-1361-10		68251809	39097731	39	8620											
JMJD7-PLA2G4B	100137049	hgsc.bcm.edu;ucsc.edu	37	15	42133008	42133008	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr15:42133008G>A	ENST00000452633.1	+	5	608	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.V86M|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.V317M|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.V317M|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.V317M			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	86	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CCAGGACCTGGTGACCGGAGA	0.592																																																0													112	101	105					15																	42133008		2203	4300	6503	SO:0001583	missense	100137049			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.256G>A	15.37:g.42133008G>A	ENSP00000396045:p.Val86Met		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	7.424	0.637270	0.14386	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.04	-10.1	0.00402	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.832329	0.10229	N	0.699938	T	0.07863	0.0197	L	0.60904	1.88	0.09310	N	1	B;B;B	0.26363	0.147;0.001;0.001	B;B;B	0.30105	0.111;0.002;0.002	T	0.30327	-0.9982	10	0.66056	D	0.02	-15.3008	1.8476	0.03162	0.2148:0.1015:0.2376:0.4461	.	86;317;317	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	M	317;317;86;86	ENSP00000371886:V317M;ENSP00000342785:V317M;ENSP00000416610:V86M;ENSP00000396045:V86M	ENSP00000342785:V317M	V	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39920300	0.000000	0.05858	0.196000	0.23383	0.055000	0.15305	-3.278000	0.00529	-2.048000	0.00907	-1.053000	0.02334	GTG		0.592	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		A	42133008	G	A	42133008	3	1	145	1	0	0	0	0	1	0	0	0	7957	1261	44	2	983	2	JMJD7-PLA2G4B	15	42133008	Missense_Mutation	SNP	G	TCGA-B0-4817-01A-01D-1361-10		42133008	60398384	40	8621											
DUOX1	53905	hgsc.bcm.edu	37	15	45440634	45440634	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr15:45440634T>A	ENST00000321429.4	+	22	3214	c.2807T>A	c.(2806-2808)cTc>cAc	p.L936H	DUOX1_ENST00000389037.3_Missense_Mutation_p.L936H|DUOX1_ENST00000561166.1_Missense_Mutation_p.L582H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	936					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTCACGCAGCTCTGTGTCAAA	0.517																																																0													67	64	65					15																	45440634		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2807T>A	15.37:g.45440634T>A	ENSP00000317997:p.Leu936His		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279024	0.80692	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73469	-0.75;-0.75	4.9	4.9	0.64082	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83820	0.5337	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.85435	0.1151	10	0.72032	D	0.01	-45.9378	12.7942	0.57551	0.0:0.0:0.0:1.0	.	69;936	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	H	936	ENSP00000317997:L936H;ENSP00000373689:L936H	ENSP00000317997:L936H	L	+	2	0	DUOX1	43227926	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.841000	0.86834	2.189000	0.69895	0.459000	0.35465	CTC		0.517	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		A	45440634	T	A	45440634	3	1	145	1	0	0	0	0	1	0	0	0	4802	1551	54	5	2885	5	DUOX1	15	45440634	Missense_Mutation	SNP	T	TCGA-B0-4817-01A-01D-1361-10	3307626	45440634	57090758	41	8622											
SCG3	29106	hgsc.bcm.edu	37	15	51975597	51975597	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr15:51975597C>A	ENST00000220478.3	+	4	766	c.363C>A	c.(361-363)gaC>gaA	p.D121E	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	121					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATGATTATGACTCTACTAAGA	0.333																																																0													99	105	102					15																	51975597		2194	4292	6486	SO:0001583	missense	29106			AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.363C>A	15.37:g.51975597C>A	ENSP00000220478:p.Asp121Glu		A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177644	0.78564	.	.	ENSG00000104112	ENST00000220478	T	0.36699	1.24	6.07	-3.47	0.04753	.	0.090654	0.85682	D	0.000000	T	0.33381	0.0861	L	0.34521	1.04	0.80722	D	1	D	0.57571	0.98	P	0.54856	0.762	T	0.17992	-1.0351	10	0.87932	D	0	-9.7195	9.368	0.38237	0.1297:0.5874:0.0:0.2829	.	121	Q8WXD2	SCG3_HUMAN	E	121	ENSP00000220478:D121E	ENSP00000220478:D121E	D	+	3	2	SCG3	49762889	1.000000	0.71417	0.975000	0.42487	0.981000	0.71138	0.881000	0.28173	-0.637000	0.05516	-0.238000	0.12139	GAC		0.333	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		A	51975597	C	A	51975597	3	1	145	1	0	0	0	0	1	0	0	0	13898	564	20	4	377	4	SCG3	15	51975597	Missense_Mutation	SNP	C	TCGA-B0-4817-01A-01D-1361-10	6534963	51975597	50555795	42	8623											
LRRK1	79705	hgsc.bcm.edu	37	15	101593136	101593136	+	Silent	SNP	G	G	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr15:101593136G>T	ENST00000388948.3	+	25	4058	c.3699G>T	c.(3697-3699)ctG>ctT	p.L1233L	LRRK1_ENST00000284395.5_Silent_p.L1230L|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCTCTTCCTGGAGAACAGCA	0.692																																																0													21	30	27					15																	101593136		2179	4275	6454	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3699G>T	15.37:g.101593136G>T				Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																				0.692	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101593136	G	T	101593136	2	4	145	1	0	0	0	0	0	0	0	1	9034	1335	47	4		4	LRRK1	15	101593136	Silent	SNP	G	TCGA-B0-4817-01A-01D-1361-10	49617539	101593136	938256	43	8624											
NOMO2	283820	hgsc.bcm.edu	37	16	18528574	18528574	+	Silent	SNP	A	A	G			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr16:18528574A>G	ENST00000381474.3	-	23	2759	c.2694T>C	c.(2692-2694)agT>agC	p.S898S	NOMO2_ENST00000330537.6_Silent_p.S898S|NOMO2_ENST00000543392.1_Silent_p.S731S	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	898						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						ACAGGCCACCACTCAGGGATA	0.507																																																0																																										SO:0001819	synonymous_variant	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2694T>C	16.37:g.18528574A>G			Q4G177	Silent	SNP	ENST00000381474.3	37	CCDS32394.1																																																																																				0.507	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		G	18528574	A	G	18528574	2	3	145	1	0	0	0	0	0	0	0	1	10534	156	6	3		3	NOMO2	16	18528574	Silent	SNP	A	TCGA-B0-4817-01A-01D-1361-10		18528574	71826179	44	8625											
PPP4C	5531	hgsc.bcm.edu	37	16	30096007	30096007	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr16:30096007A>G	ENST00000279387.7	+	8	793	c.625A>G	c.(625-627)Agc>Ggc	p.S209G	PPP4C_ENST00000561610.1_Missense_Mutation_p.S209G	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	209					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CTGGGGCGTGAGCCCCCGAGG	0.617																																																0													72	78	76					16																	30096007		2197	4300	6497	SO:0001583	missense	5531				CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9319	protein-coding gene	gene with protein product	"protein phosphatase X, catalytic subunit"	602035	"protein phosphatase 4 (formerly X), catalytic subunit"			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.625A>G	16.37:g.30096007A>G	ENSP00000279387:p.Ser209Gly		P33172	Missense_Mutation	SNP	ENST00000279387.7	37	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755274	0.69648	.	.	ENSG00000149923	ENST00000279387	T	0.68479	-0.33	5.79	4.71	0.59529	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.077757	0.85682	D	0.000000	D	0.89646	0.6775	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91836	0.5479	10	0.87932	D	0	-10.033	11.1182	0.48273	0.9266:0.0:0.0734:0.0	.	209	P60510	PP4C_HUMAN	G	209	ENSP00000279387:S209G	ENSP00000279387:S209G	S	+	1	0	PPP4C	30003508	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	3.748000	0.55142	1.025000	0.39708	-0.375000	0.07067	AGC		0.617	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		G	30096007	A	G	30096007	3	3	145	1	0	0	0	0	1	0	0	0	12407	304	11	3	651	3	PPP4C	16	30096007	Missense_Mutation	SNP	A	TCGA-B0-4817-01A-01D-1361-10	11567433	30096007	60258746	45	8626											
DEF8	54849	hgsc.bcm.edu	37	16	90025607	90025607	+	Intron	SNP	A	A	G			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr16:90025607A>G	ENST00000268676.7	+	6	786				DEF8_ENST00000563848.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000418391.2_Silent_p.Q186Q|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)						intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		agagagaccaaagttcctgcc	0.512																																																0													45	48	47					16																	90025607		2198	4300	6498	SO:0001627	intron_variant	54849			AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.697+44A>G	16.37:g.90025607A>G			B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	CCDS10989.1																																																																																				0.512	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		G	90025607	A	G	90025607	1	3	145	0	1	0	0	0	0	0	0	0	4389	11	1	3		3	DEF8	16	90025607	Intron	SNP	A	TCGA-B0-4817-01A-01D-1361-10	59929600	90025607	329146	46	8627											
STAT5B	6777	hgsc.bcm.edu	37	17	40375493	40375493	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr17:40375493G>C	ENST00000293328.3	-	5	625	c.457C>G	c.(457-459)Ctg>Gtg	p.L153V		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	153					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGCGTGACCAGTCGCAGCTCC	0.542																																																0													101	88	93					17																	40375493		2203	4300	6503	SO:0001583	missense	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.457C>G	17.37:g.40375493G>C	ENSP00000293328:p.Leu153Val		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	G	5.222	0.226538	0.09916	.	.	ENSG00000173757	ENST00000293328;ENST00000415845	T;T	0.58652	0.32;1.12	5.15	5.15	0.70609	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.144011	0.48767	D	0.000171	T	0.35856	0.0946	N	0.13043	0.29	0.30377	N	0.782283	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.21109	-1.0255	10	0.19590	T	0.45	-14.6112	8.9005	0.35493	0.078:0.151:0.771:0.0	.	153;153	Q8WW55;P51692	.;STA5B_HUMAN	V	153	ENSP00000293328:L153V;ENSP00000398379:L153V	ENSP00000293328:L153V	L	-	1	2	STAT5B	37629019	0.994000	0.37717	0.996000	0.52242	0.998000	0.95712	2.220000	0.42908	2.667000	0.90743	0.561000	0.74099	CTG		0.542	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		C	40375493	G	C	40375493	3	2	145	1	0	0	0	0	1	0	0	0	15274	1020	36	4	1966	4	STAT5B	17	40375493	Missense_Mutation	SNP	G	TCGA-B0-4817-01A-01D-1361-10		40375493	40819717	47	8628											
RGS9	8787	hgsc.bcm.edu	37	17	63221255	63221255	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr17:63221255C>T	ENST00000262406.9	+	18	1610	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	RGS9_ENST00000443584.3_Missense_Mutation_p.R512W|RGS9_ENST00000449996.3_Missense_Mutation_p.R512W	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	515					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCGCTTCATCCGGCGACCCAG	0.662																																																0													92	110	104					17																	63221255		2071	4212	6283	SO:0001583	missense	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1543C>T	17.37:g.63221255C>T	ENSP00000262406:p.Arg515Trp		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067180	0.55539	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.32988	1.43;1.43	3.91	-1.38	0.09027	.	0.303719	0.23598	N	0.046463	T	0.29684	0.0741	L	0.51422	1.61	0.22185	N	0.999301	D;D;D	0.63880	0.993;0.983;0.99	P;B;P	0.50352	0.638;0.424;0.627	T	0.16630	-1.0396	10	0.56958	D	0.05	.	6.4721	0.22013	0.522:0.3071:0.1709:0.0	.	515;515;512	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	W	515;512	ENSP00000262406:R515W;ENSP00000396329:R512W	ENSP00000262406:R515W	R	+	1	2	RGS9	60651717	0.017000	0.18338	0.944000	0.38274	0.898000	0.52572	0.020000	0.13466	0.015000	0.14971	0.561000	0.74099	CGG		0.662	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		T	63221255	C	T	63221255	3	4	145	1	0	0	0	0	1	0	0	0	13319	643	23	1	1668	1	RGS9	17	63221255	Missense_Mutation	SNP	C	TCGA-B0-4817-01A-01D-1361-10	22845762	63221255	17973955	48	8629											
SMARCA4	6597	hgsc.bcm.edu	37	19	11144113	11144113	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr19:11144113G>T	ENST00000429416.3	+	27	3975	c.3694G>T	c.(3694-3696)Ggc>Tgc	p.G1232C	SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1232C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1232C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1232C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1232C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1232C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1232C|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1232C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1232C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1232	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G1232S(5)|p.G1232C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GATCCAGGCCGGCATGTTCGA	0.637			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	7	Substitution - Missense(6)|Unknown(1)	lung(3)|endometrium(2)|central_nervous_system(2)											118	114	115					19																	11144113		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3694G>T	19.37:g.11144113G>T	ENSP00000395654:p.Gly1232Cys		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.053424|4.053424	0.75960|0.75960	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806|ENST00000538456	T;T;T;D;D;D;D|.	0.95656|.	-1.08;-1.08;-1.08;-3.77;-3.77;-3.77;-3.77|.	4.74|4.74	4.74|4.74	0.60224|0.60224	Helicase, C-terminal (1);|.	0.120502|.	0.56097|.	D|.	0.000034|.	D|D	0.87497|0.87497	0.6192|0.6192	H|H	0.95850|0.95850	3.73|3.73	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998;1.0;1.0;0.999|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.99;0.998;1.0;0.993|.	D|D	0.91547|0.91547	0.5254|0.5254	10|5	0.87932|.	D|.	0|.	-28.4816|-28.4816	16.7067|16.7067	0.85374|0.85374	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1232;1232;1232;1232;1232;452;1232|.	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532|.	.;.;.;.;.;.;SMCA4_HUMAN|.	C|L	1232;1232;1296;1232;1232;1232;1232;1232|1	ENSP00000395654:G1232C;ENSP00000350720:G1232C;ENSP00000343896:G1232C;ENSP00000445036:G1232C;ENSP00000392837:G1232C;ENSP00000397783:G1232C;ENSP00000414727:G1232C|.	ENSP00000343896:G1232C|.	G|R	+|+	1|2	0|0	SMARCA4|SMARCA4	11005113|11005113	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.976000|0.976000	0.68499|0.68499	9.264000|9.264000	0.95635|0.95635	2.488000|2.488000	0.83962|0.83962	0.558000|0.558000	0.71614|0.71614	GGC|CGG		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11144113	G	T	11144113	3	4	145	1	0	0	0	0	1	0	0	0	14776	1116	39	4	3792	4	SMARCA4	19	11144113	Missense_Mutation	SNP	G	TCGA-B0-4817-01A-01D-1361-10		11144113	47984870	49	8630											
UBA2	10054	hgsc.bcm.edu	37	19	34935995	34935995	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr19:34935995C>A	ENST00000246548.4	+	8	810	c.740C>A	c.(739-741)aCt>aAt	p.T247N	UBA2_ENST00000439527.2_Missense_Mutation_p.T151N	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	247					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GCTAAATCAACTGGATATGAT	0.358																																																0													93	92	92					19																	34935995		2203	4300	6503	SO:0001583	missense	10054			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.740C>A	19.37:g.34935995C>A	ENSP00000246548:p.Thr247Asn		B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866638	0.51588	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.58652	0.32;1.5	5.5	5.5	0.81552	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.043912	0.85682	D	0.000000	T	0.47911	0.1471	L	0.29908	0.895	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.31336	-0.9947	10	0.25106	T	0.35	-22.2949	18.524	0.90965	0.0:1.0:0.0:0.0	.	247	Q9UBT2	SAE2_HUMAN	N	120;247;151	ENSP00000246548:T247N;ENSP00000437484:T151N	ENSP00000246548:T247N	T	+	2	0	UBA2	39627835	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.222000	0.65277	2.736000	0.93811	0.591000	0.81541	ACT		0.358	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		A	34935995	C	A	34935995	3	1	145	1	0	0	0	0	1	0	0	0	16833	565	20	4	770	4	UBA2	19	34935995	Missense_Mutation	SNP	C	TCGA-B0-4817-01A-01D-1361-10	23791882	34935995	24192988	50	8631											
ATP4A	495	hgsc.bcm.edu	37	19	36049926	36049927	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr19:36049926_36049927delGA	ENST00000262623.3	-	8	1251_1252	c.1223_1224delTC	c.(1222-1224)atcfs	p.I408fs		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	408					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CAGCTGTGTGGATGTGGTTGTC	0.584																																																0																																										SO:0001589	frameshift_variant	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1223_1224delTC	19.37:g.36049926_36049927delGA	ENSP00000262623:p.Ile408fs		O00738	Frame_Shift_Del	DEL	ENST00000262623.3	37	CCDS12467.1																																																																																				0.584	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		-	36049927	GA	-	36049926	7	5	145	1	0	1	0	1	0	0	0	0	1145	1164	41	0	1943	0	ATP4A	19	36049926	Frame_Shift_Del	DEL	GA	TCGA-B0-4817-01A-01D-1361-10	1113931	36049926	23079057	51	8632											
ZNF780B	163131	hgsc.bcm.edu;ucsc.edu	37	19	40540306	40540306	+	Silent	SNP	G	G	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr19:40540306G>A	ENST00000434248.1	-	5	2525	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	ZNF780B_ENST00000221355.6_Silent_p.I672I	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	820					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I820I(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTTGCTACTGATGTCTGAAG	0.388																																																2	Substitution - coding silent(2)	kidney(2)											62	67	65					19																	40540306		2177	4289	6466	SO:0001819	synonymous_variant	163131			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.2460C>T	19.37:g.40540306G>A			B9EH00	Silent	SNP	ENST00000434248.1	37	CCDS46077.1																																																																																				0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		A	40540306	G	A	40540306	2	1	145	1	0	0	0	0	0	0	0	1	18158	1280	45	2		2	ZNF780B	19	40540306	Silent	SNP	G	TCGA-B0-4817-01A-01D-1361-10	4490380	40540306	18588677	52	8633											
ZNF329	79673	hgsc.bcm.edu;ucsc.edu	37	19	58639319	58639319	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr19:58639319T>G	ENST00000598312.1	-	4	1785	c.1552A>C	c.(1552-1554)Aaa>Caa	p.K518Q	ZNF329_ENST00000358067.4_Missense_Mutation_p.K518Q	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGGAACATTTTTCCACACTGA	0.517																																																0													181	165	171					19																	58639319		2203	4300	6503	SO:0001583	missense	79673			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"Zinc fingers, C2H2-type"	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1552A>C	19.37:g.58639319T>G	ENSP00000470008:p.Lys518Gln		B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628134	0.46944	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.60424	0.19;0.19	4.34	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000987	T	0.73916	0.3648	M	0.78285	2.405	0.33773	D	0.623288	D	0.71674	0.998	D	0.67548	0.952	D	0.83539	0.0095	10	0.87932	D	0	-18.5093	13.4688	0.61271	0.0:0.0:0.0:1.0	.	518	Q86UD4	ZN329_HUMAN	Q	518	ENSP00000350773:K518Q;ENSP00000439527:K518Q	ENSP00000350773:K518Q	K	-	1	0	ZNF329	63331131	1.000000	0.71417	0.913000	0.36048	0.859000	0.49053	4.391000	0.59652	2.194000	0.70268	0.533000	0.62120	AAA		0.517	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		G	58639319	T	G	58639319	3	3	145	1	0	0	0	0	1	0	0	0	17852	1850	64	5	77	5	ZNF329	19	58639319	Missense_Mutation	SNP	T	TCGA-B0-4817-01A-01D-1361-10	18099013	58639319	489664	53	8634											
PCIF1	63935	hgsc.bcm.edu	37	20	44572023	44572023	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chr20:44572023T>A	ENST00000372409.3	+	9	1230	c.866T>A	c.(865-867)tTt>tAt	p.F289Y		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	289					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CGCCTGCTCTTTAAATATGCG	0.552																																																0													39	44	42					20																	44572023		2203	4300	6503	SO:0001583	missense	63935			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.866T>A	20.37:g.44572023T>A	ENSP00000361486:p.Phe289Tyr		E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745704	0.89663	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	T	0.43294	0.95	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	L	0.54323	1.7	0.58432	D	0.999998	D	0.65815	0.995	P	0.55615	0.78	T	0.44742	-0.9308	10	0.05620	T	0.96	-13.192	14.0642	0.64819	0.0:0.0:0.0:1.0	.	289	Q9H4Z3	PCIF1_HUMAN	Y	289	ENSP00000361486:F289Y	ENSP00000361486:F289Y	F	+	2	0	PCIF1	44005430	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.868000	0.87116	2.107000	0.64212	0.533000	0.62120	TTT		0.552	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		A	44572023	T	A	44572023	3	1	145	1	0	0	0	0	1	0	0	0	11582	1841	64	5	892	5	PCIF1	20	44572023	Missense_Mutation	SNP	T	TCGA-B0-4817-01A-01D-1361-10		44572023	18453497	54	8635											
WDR13	64743	hgsc.bcm.edu	37	X	48458031	48458031	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chrX:48458031G>T	ENST00000218056.5	+	4	954	c.449G>T	c.(448-450)gGg>gTg	p.G150V	WDR13_ENST00000376729.5_Missense_Mutation_p.G150V|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	150						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCCATGGCCGGGGACACGTCA	0.612																																																0													100	83	89					X																	48458031		2203	4300	6503	SO:0001583	missense	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.449G>T	X.37:g.48458031G>T	ENSP00000218056:p.Gly150Val		Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119260	0.94385	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.72394	-0.65;-0.65	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.79516	0.4459	L	0.58101	1.795	0.80722	D	1	D;P	0.64830	0.994;0.822	P;P	0.60949	0.881;0.534	T	0.79909	-0.1604	10	0.48119	T	0.1	-20.0815	15.6128	0.76740	0.0:0.0:1.0:0.0	.	28;150	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	V	150	ENSP00000365919:G150V;ENSP00000218056:G150V	ENSP00000218056:G150V	G	+	2	0	WDR13	48342975	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	8.609000	0.90898	2.281000	0.76405	0.529000	0.55759	GGG		0.612	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			T	48458031	G	T	48458031	3	4	145	1	0	0	0	0	1	0	0	0	17280	1232	43	4	463	4	WDR13	23	48458031	Missense_Mutation	SNP	G	TCGA-B0-4817-01A-01D-1361-10		48458031	106812529	55	8636											
RLIM	51132	hgsc.bcm.edu	37	X	73811648	73811648	+	Missense_Mutation	SNP	G	G	A	rs200629905		TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chrX:73811648G>A	ENST00000332687.6	-	4	1720	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	RLIM_ENST00000349225.2_Missense_Mutation_p.S501L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	501	Poly-Ser.|Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S501L(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTGATGATGAGCTTCCTTC	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											3	Substitution - Missense(3)	prostate(2)|ovary(1)											45	38	40					X																	73811648		2203	4300	6503	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1502C>T	X.37:g.73811648G>A	ENSP00000328059:p.Ser501Leu		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	7.117	0.577275	0.13686	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08984	3.03;3.03	5.41	4.55	0.56014	.	0.666655	0.15400	N	0.264373	T	0.10121	0.0248	L	0.49126	1.545	0.38573	D	0.949983	B	0.02656	0.0	B	0.01281	0.0	T	0.08764	-1.0706	10	0.23891	T	0.37	-0.2985	13.4694	0.61273	0.0772:0.0:0.9228:0.0	.	501	Q9NVW2	RNF12_HUMAN	L	501	ENSP00000328059:S501L;ENSP00000253571:S501L	ENSP00000328059:S501L	S	-	2	0	RLIM	73728373	0.997000	0.39634	0.969000	0.41365	0.831000	0.47069	2.664000	0.46783	1.072000	0.40860	-0.192000	0.12808	TCA		0.488	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		A	73811648	G	A	73811648	3	1	145	1	0	0	0	0	1	0	0	0	13396	1294	45	2	376	2	RLIM	23	73811648	Missense_Mutation	SNP	G	TCGA-B0-4817-01A-01D-1361-10	25353617	73811648	81458912	56	8637											
APOOL	139322	hgsc.bcm.edu;ucsc.edu	37	X	84310894	84310894	+	Silent	SNP	A	A	G			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chrX:84310894A>G	ENST00000373173.2	+	5	444	c.357A>G	c.(355-357)acA>acG	p.T119T		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	119						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGTTATTACAGTTTCAGGAT	0.343																																																0													54	46	48					X																	84310894		1796	4058	5854	SO:0001819	synonymous_variant	139322			AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"chromosome X open reading frame 33", "family with sequence similarity 121A"	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.357A>G	X.37:g.84310894A>G			Q3KNU7|Q5H9D1	Silent	SNP	ENST00000373173.2	37	CCDS48138.1																																																																																				0.343	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057385.2	NM_198450		G	84310894	A	G	84310894	2	3	145	1	0	0	0	0	0	0	0	1	814	175	7	3		3	APOOL	23	84310894	Silent	SNP	A	TCGA-B0-4817-01A-01D-1361-10	10499246	84310894	70959666	57	8638											
TCEAL3	85012	hgsc.bcm.edu;ucsc.edu	37	X	102864442	102864442	+	Silent	SNP	A	A	G			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chrX:102864442A>G	ENST00000372628.1	+	3	808	c.450A>G	c.(448-450)caA>caG	p.Q150Q	TCEAL3_ENST00000372627.5_Silent_p.Q150Q|TCEAL3_ENST00000243286.3_Silent_p.Q150Q|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q150Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CAAGGGCTCAAGAGGAGCTAA	0.512																																																1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)											293	254	267					X																	102864442		2203	4300	6503	SO:0001819	synonymous_variant	85012			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.450A>G	X.37:g.102864442A>G			D3DXA4	Silent	SNP	ENST00000372628.1	37	CCDS14511.1																																																																																				0.512	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		G	102864442	A	G	102864442	2	3	145	1	0	0	0	0	0	0	0	1	15677	69	3	3		3	TCEAL3	23	102864442	Silent	SNP	A	TCGA-B0-4817-01A-01D-1361-10	18553548	102864442	52406118	58	8639											
DOCK11	139818	hgsc.bcm.edu	37	X	117707902	117707902	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chrX:117707902G>T	ENST00000276202.7	+	12	1373	c.1310G>T	c.(1309-1311)aGt>aTt	p.S437I	DOCK11_ENST00000276204.6_Missense_Mutation_p.S437I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	437					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAACTGGCCAGTGACGGTAGC	0.458																																																0													96	88	91					X																	117707902		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1310G>T	X.37:g.117707902G>T	ENSP00000276202:p.Ser437Ile		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338643	0.24253	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.41758	0.99;0.99	6.02	-0.732	0.11147	.	1.409310	0.03730	N	0.253290	T	0.24661	0.0598	N	0.08118	0	0.09310	N	1	B;B	0.26744	0.158;0.019	B;B	0.32149	0.141;0.028	T	0.22417	-1.0217	10	0.33141	T	0.24	-13.7539	5.2522	0.15529	0.4692:0.266:0.2647:0.0	.	437;437	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	437	ENSP00000276204:S437I;ENSP00000276202:S437I	ENSP00000276202:S437I	S	+	2	0	DOCK11	117591930	0.000000	0.05858	0.000000	0.03702	0.406000	0.30931	0.214000	0.17541	-0.086000	0.12550	0.600000	0.82982	AGT		0.458	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		T	117707902	G	T	117707902	3	4	145	1	0	0	0	0	1	0	0	0	4688	1029	36	4	1356	4	DOCK11	23	117707902	Missense_Mutation	SNP	G	TCGA-B0-4817-01A-01D-1361-10	14843460	117707902	37562658	59	8640											
ACTRT1	139741	hgsc.bcm.edu	37	X	127185630	127185630	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chrX:127185630T>A	ENST00000371124.3	-	1	752	c.556A>T	c.(556-558)Agg>Tgg	p.R186W		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	186						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GTGATGTCCCTCCCTGCCATA	0.532																																																0													86	78	81					X																	127185630		2203	4300	6503	SO:0001583	missense	139741			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.556A>T	X.37:g.127185630T>A	ENSP00000360165:p.Arg186Trp		Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.340184	0.60963	.	.	ENSG00000123165	ENST00000371124	D	0.94862	-3.54	3.48	3.48	0.39840	.	0.285022	0.28706	N	0.014418	D	0.97111	0.9056	M	0.92077	3.27	0.32987	D	0.524476	D	0.76494	0.999	D	0.79784	0.993	D	0.96788	0.9580	10	0.87932	D	0	.	6.1582	0.20350	0.0:0.0:0.2589:0.7411	.	186	Q8TDG2	ACTT1_HUMAN	W	186	ENSP00000360165:R186W	ENSP00000360165:R186W	R	-	1	2	ACTRT1	127013311	0.001000	0.12720	0.267000	0.24556	0.969000	0.65631	0.751000	0.26348	1.604000	0.50143	0.441000	0.28932	AGG		0.532	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		A	127185630	T	A	127185630	3	1	145	1	0	0	0	0	1	0	0	0	218	1550	54	5	578	5	ACTRT1	23	127185630	Missense_Mutation	SNP	T	TCGA-B0-4817-01A-01D-1361-10	9477728	127185630	28084930	60	8641											
GPR50	9248	hgsc.bcm.edu	37	X	150349562	150349562	+	Frame_Shift_Del	DEL	A	A	-	rs377556761|rs68058591		TCGA-B0-4817-01A-01D-1361-10	TCGA-B0-4817-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	304941d8-b999-4192-91d7-517f468c4156	27a4c2a2-b90f-4046-b6ca-373e91ba70f3	g.chrX:150349562delA	ENST00000218316.3	+	2	1576	c.1507delA	c.(1507-1509)actfs	p.T503fs	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	503	Pro-rich.		Missing (lower fasting circulating triglyceride levels). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8647286, ECO:0000269|Ref.2}.		cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TAAACCCACCACTGGCCACAT	0.602																																																1	Deletion - In frame(1)	ovary(1)											68	80	77					X																	150349562		1875	3867	5742	SO:0001589	frameshift_variant	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1507delA	X.37:g.150349562delA	ENSP00000218316:p.Thr503fs		Q0VGG3|Q3ZAR0	Frame_Shift_Del	DEL	ENST00000218316.3	37	CCDS44012.1																																																																																				0.602	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		-	150349562	A	-	150349562	7	5	145	1	0	1	0	1	0	0	0	0	6699	159	6	0	1513	0	GPR50	23	150349562	Frame_Shift_Del	DEL	A	TCGA-B0-4817-01A-01D-1361-10	23163932	150349562	4920998	61	8642											
CASZ1	54897	broad.mit.edu	37	1	10699617	10699618	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:10699617_10699618insAA	ENST00000377022.3	-	21	4978_4979	c.4661_4662insTT	c.(4660-4662)agcfs	p.S1554fs	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1554					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCAGTCGGCGCTGGAGCTGAA	0.658																																																0																																										SO:0001589	frameshift_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4661_4662insTT	1.37:g.10699617_10699618insAA	ENSP00000366221:p.Ser1554fs		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Ins	INS	ENST00000377022.3	37	CCDS41246.1																																																																																				0.658	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		AA	10699618	-	AA	10699617	7	5	146	1	0	1	1	0	0	0	0	0	2687	1078	38	0	621	0	CASZ1	1	10699617	Frame_Shift_Ins	INS	-	TCGA-B0-4818-01A-01D-1501-10		10699617	238551004	1	8643											
CCBL2	56267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	89454019	89454019	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:89454019C>A	ENST00000260508.4	-	2	352	c.15G>T	c.(13-15)caG>caT	p.Q5H	RBMXL1_ENST00000413769.1_5'UTR|RBMXL1_ENST00000321792.5_Intron|RBMXL1_ENST00000399794.2_5'UTR|CCBL2_ENST00000370485.2_Missense_Mutation_p.Q5H|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	5					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.Q5H(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		AGAGGCTCCTCTGGGCCAAAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											42	45	44					1																	89454019		2201	4300	6501	SO:0001583	missense	56267			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.15G>T	1.37:g.89454019C>A	ENSP00000260508:p.Gln5His		B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	C	8.184	0.794505	0.16327	.	.	ENSG00000137944	ENST00000260508;ENST00000370485;ENST00000370486	T;T	0.72505	-0.66;-0.5	5.25	-0.404	0.12396	.	1.310480	0.05252	N	0.514239	T	0.35913	0.0948	L	0.44542	1.39	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.07654	-1.0761	10	0.24483	T	0.36	2.5175	4.9696	0.14108	0.0:0.4176:0.3151:0.2672	.	5	Q6YP21	KAT3_HUMAN	H	5	ENSP00000260508:Q5H;ENSP00000359517:Q5H	ENSP00000260508:Q5H	Q	-	3	2	CCBL2	89226607	0.000000	0.05858	0.269000	0.24586	0.770000	0.43624	-0.558000	0.05978	-0.352000	0.08237	0.460000	0.39030	CAG		0.383	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		A	89454019	C	A	89454019	3	1	146	1	0	0	0	0	1	0	0	0	2735	912	32	4	1401	4	CCBL2	1	89454019	Missense_Mutation	SNP	C	TCGA-B0-4818-01A-01D-1501-10	78754402	89454019	159796602	2	8644											
SORT1	6272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109884661	109884661	+	Silent	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:109884661T>C	ENST00000256637.6	-	9	1141	c.1083A>G	c.(1081-1083)gtA>gtG	p.V361V	SORT1_ENST00000538502.1_Silent_p.V224V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	361					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.V361V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CATGCATGAATACCATGTCAT	0.443																																																1	Substitution - coding silent(1)	kidney(1)											155	141	145					1																	109884661		2203	4300	6503	SO:0001819	synonymous_variant	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1083A>G	1.37:g.109884661T>C			B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	ENST00000256637.6	37	CCDS798.1																																																																																				0.443	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		C	109884661	T	C	109884661	2	2	146	1	0	0	0	0	0	0	0	1	14941	1393	49	3		3	SORT1	1	109884661	Silent	SNP	T	TCGA-B0-4818-01A-01D-1501-10	20430642	109884661	139365960	3	8645											
HAO2	51179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	119923771	119923771	+	Silent	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:119923771T>C	ENST00000325945.3	+	2	136	c.63T>C	c.(61-63)acT>acC	p.T21T	HAO2_ENST00000361035.4_Silent_p.T34T	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	21	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.T21T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CTAAGTCAACTCGGGATTTTA	0.463																																																1	Substitution - coding silent(1)	kidney(1)											195	184	188					1																	119923771		2203	4300	6503	SO:0001819	synonymous_variant	51179			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.63T>C	1.37:g.119923771T>C			Q2TU86|Q5QP00|Q9UJS6	Silent	SNP	ENST00000325945.3	37	CCDS901.1																																																																																				0.463	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		C	119923771	T	C	119923771	2	2	146	1	0	0	0	0	0	0	0	1	6954	1538	54	3		3	HAO2	1	119923771	Silent	SNP	T	TCGA-B0-4818-01A-01D-1501-10	10039110	119923771	129326850	4	8646											
NOS1AP	9722	broad.mit.edu	37	1	162040040	162040040	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:162040040G>A	ENST00000361897.5	+	1	475	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	NOS1AP_ENST00000530878.1_Missense_Mutation_p.A25T	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	25					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.A25T(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CAACGAGGACGCCTTCCAGCA	0.632																																																2	Substitution - Missense(2)	kidney(2)											90	78	82					1																	162040040		2203	4300	6503	SO:0001583	missense	9722			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.73G>A	1.37:g.162040040G>A	ENSP00000355133:p.Ala25Thr		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488124	0.96323	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.13901	2.55;2.55	4.65	4.65	0.58169	Pleckstrin homology-type (1);	0.132702	0.49916	D	0.000121	T	0.26085	0.0636	M	0.65975	2.015	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.964;0.983;0.951	T	0.02925	-1.1093	9	0.51188	T	0.08	.	16.1164	0.81306	0.0:0.0:1.0:0.0	.	25;25;25	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	T	25	ENSP00000431586:A25T;ENSP00000355133:A25T	ENSP00000355133:A25T	A	+	1	0	NOS1AP	160306664	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.638000	0.74309	2.101000	0.63845	0.462000	0.41574	GCC		0.632	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		A	162040040	G	A	162040040	3	1	146	1	0	0	0	0	1	0	0	0	10544	1087	38	1	75	1	NOS1AP	1	162040040	Missense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10	42116269	162040040	87210581	5	8647											
FMO2	2327	hgsc.bcm.edu;ucsc.edu	37	1	171174636	171174637	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:171174636_171174637insA	ENST00000209929.7	+	7	1204_1205	c.1046_1047insA	c.(1045-1050)atggtcfs	p.MV349fs	FMO2_ENST00000441535.1_Frame_Shift_Ins_p.MV349fs|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	348					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAATAATATGGTCTCACTGT	0.436																																																0																																										SO:0001589	frameshift_variant	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	Exception_encountered	1.37:g.171174636_171174637insA	ENSP00000209929:p.Met349fs		Q53XR0	Frame_Shift_Ins	INS	ENST00000209929.7	37	CCDS1293.1																																																																																				0.436	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		A	171174637	-	A	171174636	7	5	146	1	0	1	1	0	0	0	0	0	5957	1464	51	0	1068	0	FMO2	1	171174636	Frame_Shift_Ins	INS	-	TCGA-B0-4818-01A-01D-1501-10	9134596	171174636	78075985	6	8648											
HMCN1	83872	hgsc.bcm.edu;ucsc.edu	37	1	186114885	186114885	+	Splice_Site	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:186114885T>C	ENST00000271588.4	+	93	14667	c.14438T>C	c.(14437-14439)gTg>gCg	p.V4813A	HMCN1_ENST00000367492.2_Splice_Site_p.V4813A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4813					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTCACAGTGGATGGAAGT	0.483																																																0													63	64	64					1																	186114885		2203	4300	6503	SO:0001630	splice_region_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14438-1T>C	1.37:g.186114885T>C			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117599	0.77323	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.62364	0.03;0.03	5.44	5.44	0.79542	.	0.054434	0.64402	D	0.000001	T	0.55337	0.1914	M	0.66378	2.025	0.53005	D	0.999964	P	0.37636	0.603	B	0.32149	0.141	T	0.57481	-0.7804	9	.	.	.	.	9.934	0.41539	0.0:0.0759:0.0:0.9241	.	4813	Q96RW7	HMCN1_HUMAN	A	4813	ENSP00000271588:V4813A;ENSP00000356462:V4813A	.	V	+	2	0	HMCN1	184381508	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.917000	0.69989	2.063000	0.61619	0.533000	0.62120	GTG		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	C	186114885	T	C	186114885	5	2	146	1	0	0	0	0	0	0	1	0	7222	1710	59	3	14808	3	HMCN1	1	186114885	Splice_Site	SNP	T	TCGA-B0-4818-01A-01D-1501-10	14940249	186114885	63135736	7	8649											
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237947723	237947723	+	Silent	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr1:237947723C>T	ENST00000366574.2	+	90	13028	c.12711C>T	c.(12709-12711)tcC>tcT	p.S4237S	RYR2_ENST00000542537.1_Silent_p.S4221S|RYR2_ENST00000360064.6_Silent_p.S4243S|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4237					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S4235S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTCTTCTCCATTCTGACGG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											56	62	60					1																	237947723		1969	4146	6115	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12711C>T	1.37:g.237947723C>T			Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237947723	C	T	237947723	2	4	146	1	0	0	0	0	0	0	0	1	13775	581	21	2		2	RYR2	1	237947723	Silent	SNP	C	TCGA-B0-4818-01A-01D-1501-10	51832838	237947723	11302898	8	8650											
CEP68	23177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	65298597	65298597	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:65298597A>T	ENST00000377990.2	+	3	570	c.367A>T	c.(367-369)Acc>Tcc	p.T123S	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.T123S|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.T123S	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	123					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.T123S(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTGGAGAAGACCAAGCTTTC	0.453																																																1	Substitution - Missense(1)	kidney(1)											72	73	73					2																	65298597		2203	4300	6503	SO:0001583	missense	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.367A>T	2.37:g.65298597A>T	ENSP00000367229:p.Thr123Ser		B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009858	0.35415	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.26067	1.76;1.76;1.76	5.88	-8.4	0.00965	.	1.284470	0.05259	N	0.515449	T	0.11153	0.0272	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.16802	0.019;0.019;0.019;0.019;0.019	B;B;B;B;B	0.14578	0.011;0.011;0.011;0.011;0.011	T	0.30563	-0.9974	10	0.09084	T	0.74	0.075	1.3349	0.02142	0.2434:0.2151:0.3319:0.2096	.	111;123;123;123;123	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	S	123;123;123;111	ENSP00000367229:T123S;ENSP00000438306:T123S;ENSP00000260569:T123S	ENSP00000260569:T123S	T	+	1	0	CEP68	65152101	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.534000	0.06150	-1.672000	0.01464	-1.155000	0.01812	ACC		0.453	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		T	65298597	A	T	65298597	3	4	146	1	0	0	0	0	1	0	0	0	3260	275	10	5	373	5	CEP68	2	65298597	Missense_Mutation	SNP	A	TCGA-B0-4818-01A-01D-1501-10		65298597	177900776	9	8651											
EXOC6B	23233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	72411218	72411218	+	Silent	SNP	C	C	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:72411218C>G	ENST00000272427.6	-	21	2425	c.2295G>C	c.(2293-2295)ctG>ctC	p.L765L	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	765					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)		p.L765L(1)|p.L302L(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CAAGCAGGGTCAGAGCAGTCA	0.512																																																2	Substitution - coding silent(2)	kidney(2)											44	43	44					2																	72411218		1947	4132	6079	SO:0001819	synonymous_variant	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.2295G>C	2.37:g.72411218C>G			B8ZZY3	Silent	SNP	ENST00000272427.6	37	CCDS46333.1																																																																																				0.512	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		G	72411218	C	G	72411218	2	3	146	1	0	0	0	0	0	0	0	1	5311	813	29	4		4	EXOC6B	2	72411218	Silent	SNP	C	TCGA-B0-4818-01A-01D-1501-10	7112621	72411218	170788155	10	8652											
TBC1D8	11138	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	101624288	101624288	+	Missense_Mutation	SNP	A	A	T	rs576024231		TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:101624288A>T	ENST00000376840.4	-	20	3417	c.3418T>A	c.(3418-3420)Ttg>Atg	p.L1140M	RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.L1155M|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1140					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.L1140M(1)|p.L1155M(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCTTGCTACAAGTTACTCAGC	0.428																																																2	Substitution - Missense(2)	kidney(2)											176	184	181					2																	101624288		2001	4178	6179	SO:0001583	missense	11138			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.3418T>A	2.37:g.101624288A>T	ENSP00000366036:p.Leu1140Met		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	A	1.162	-0.643459	0.03531	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03496	3.92;3.91	4.71	1.78	0.24846	.	0.336290	0.21172	N	0.078973	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.28011	0.085	T	0.46470	-0.9189	10	0.20519	T	0.43	.	2.5605	0.04771	0.1168:0.1402:0.5367:0.2063	.	1140	O95759	TBCD8_HUMAN	M	1140;1155	ENSP00000366036:L1140M;ENSP00000386856:L1155M	ENSP00000366036:L1140M	L	-	1	2	TBC1D8	100990720	0.000000	0.05858	0.076000	0.20297	0.086000	0.17979	-0.129000	0.10515	0.146000	0.19002	-0.250000	0.11733	TTG		0.428	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		T	101624288	A	T	101624288	3	4	146	1	0	0	0	0	1	0	0	0	15630	69	3	5	8	5	TBC1D8	2	101624288	Missense_Mutation	SNP	A	TCGA-B0-4818-01A-01D-1501-10	29213070	101624288	141575085	11	8653											
R3HDM1	23518	broad.mit.edu;hgsc.bcm.edu	37	2	136418887	136418888	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:136418887_136418888TC>AA	ENST00000264160.4	+	18	2341_2342	c.1971_1972TC>AA	c.(1969-1974)ccTCag>ccAAag	p.Q658K	R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q603K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q530K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q529K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q659K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	658							poly(A) RNA binding (GO:0044822)	p.Q658K(1)|p.P657P(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCAGCCAACCTCAGTATCGCCC	0.436																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	23518			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	Exception_encountered	2.37:g.136418887_136418888delinsAA	ENSP00000264160:p.Gln658Lys		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent|Missense_Mutation	SNP	ENST00000264160.4	37	CCDS2177.1																																																																																				0.436	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		AA	136418888	TC	AA	136418887	3	1	146	1	0	0	0	0	1	0	0	0	12893	1538	54	5	2033	5	R3HDM1	2	136418887	Missense_Mutation	DNP	TC	TCGA-B0-4818-01A-01D-1501-10	34794599	136418887	106780486	12	8654											
ITGA6	3655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	173354378	173354378	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:173354378A>G	ENST00000264106.6	+	21	2991	c.2788A>G	c.(2788-2790)Aac>Gac	p.N930D	ITGA6_ENST00000375221.2_Missense_Mutation_p.N930D|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.N772D|ITGA6_ENST00000343713.4_Missense_Mutation_p.N886D|ITGA6_ENST00000409080.1_Missense_Mutation_p.N891D|ITGA6_ENST00000264107.7_Missense_Mutation_p.N891D			P23229	ITA6_HUMAN	integrin, alpha 6	930					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.N891D(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAACTCCCTGAACCTAACGGT	0.363																																																2	Substitution - Missense(2)	kidney(2)											66	60	62					2																	173354378		2203	4300	6503	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2788A>G	2.37:g.173354378A>G	ENSP00000264106:p.Asn930Asp		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	A	5.405	0.259894	0.10239	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.36	2.87	0.33458	.	0.729179	0.14159	N	0.337495	T	0.28366	0.0701	N	0.25890	0.77	0.21020	N	0.999806	B;B;B	0.21520	0.01;0.057;0.057	B;B;B	0.25405	0.015;0.038;0.06	T	0.27872	-1.0061	10	0.06891	T	0.86	.	6.1788	0.20459	0.598:0.256:0.146:0.0	.	886;891;891	P23229-4;G5E9H1;P23229-2	.;.;.	D	772;891;930;930;886;891;930;886	ENSP00000386614:N772D;ENSP00000264107:N891D;ENSP00000264106:N930D;ENSP00000364369:N930D;ENSP00000341078:N886D;ENSP00000386896:N891D;ENSP00000406694:N930D;ENSP00000394169:N886D	ENSP00000264106:N930D	N	+	1	0	ITGA6	173062624	0.000000	0.05858	0.019000	0.16419	0.006000	0.05464	0.171000	0.16685	0.877000	0.35895	0.482000	0.46254	AAC		0.363	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				G	173354378	A	G	173354378	3	3	146	1	0	0	0	0	1	0	0	0	7882	246	9	3	2749	3	ITGA6	2	173354378	Missense_Mutation	SNP	A	TCGA-B0-4818-01A-01D-1501-10	36935491	173354378	69844995	13	8655											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179438104	179438111	+	Frame_Shift_Del	DEL	CTTCCACC	CTTCCACC	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	CTTCCACC	CTTCCACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:179438104_179438111delCTTCCACC	ENST00000591111.1	-	276	68049_68056	c.67825_67832delGGTGGAAG	c.(67825-67833)ggtggaagtfs	p.GGS22609fs	TTN_ENST00000342992.6_Frame_Shift_Del_p.GGS21682fs|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.GGS15310fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.GGS15377fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.GGS24250fs|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.GGS15185fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22609	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGATTTCACTTCCACCATCAGAATCA	0.409																																																0																																										SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67825_67832delGGTGGAAG	2.37:g.179438104_179438111delCTTCCACC	ENSP00000465570:p.Gly22609fs		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	ENST00000591111.1	37																																																																																					0.409	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179438111	CTTCCACC	-	179438104	7	5	146	1	0	1	0	1	0	0	0	0	16740	565	20	0	35372	0	TTN	2	179438104	Frame_Shift_Del	DEL	CTTCCACC	TCGA-B0-4818-01A-01D-1501-10	6083726	179438104	63761269	14	8656											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179472591	179472591	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:179472591delT	ENST00000591111.1	-	226	48224	c.48000delA	c.(47998-48000)aaafs	p.K16000fs	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K15073fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.K8701fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K8768fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.K17641fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.K8576fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16000	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCCGAAGTTTGTAATCAG	0.493																																																0													124	121	122					2																	179472591		1987	4155	6142	SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48000delA	2.37:g.179472591delT	ENSP00000465570:p.Lys16000fs		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	ENST00000591111.1	37																																																																																					0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179472591	T	-	179472591	7	5	146	1	0	1	0	1	0	0	0	0	16740	1722	60	0	55118	0	TTN	2	179472591	Frame_Shift_Del	DEL	T	TCGA-B0-4818-01A-01D-1501-10	34487	179472591	63726782	15	8657											
NEUROD1	4760	hgsc.bcm.edu	37	2	182542656	182542657	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:182542656_182542657insC	ENST00000295108.3	-	2	1388_1389	c.931_932insG	c.(931-933)gccfs	p.A311fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	311					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTGGCTTTGGGCCCCTGCCAGT	0.51																																																0																																										SO:0001589	frameshift_variant	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.932dupG	2.37:g.182542660_182542660dupC	ENSP00000295108:p.Ala311fs		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	CCDS2283.1																																																																																				0.51	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		C	182542657	-	C	182542656	7	5	146	1	0	1	1	0	0	0	0	0	10350	1203	42	0	142	0	NEUROD1	2	182542656	Frame_Shift_Ins	INS	-	TCGA-B0-4818-01A-01D-1501-10	3070065	182542656	60656717	16	8658											
ABCB6	10058	broad.mit.edu;ucsc.edu	37	2	220075789	220075789	+	Silent	SNP	G	G	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:220075789G>C	ENST00000265316.3	-	15	2326	c.2010C>G	c.(2008-2010)ccC>ccG	p.P670P	ABCB6_ENST00000439002.2_Silent_p.P624P	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	670	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.P670P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTGTCTTGGGGCACAACTC	0.572																																																1	Substitution - coding silent(1)	kidney(1)											120	113	115					2																	220075789		2203	4300	6503	SO:0001819	synonymous_variant	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2010C>G	2.37:g.220075789G>C			O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	5.085	0.201414	0.09652	.	.	ENSG00000115657	ENST00000295750	D	0.94138	-3.36	4.7	2.84	0.33178	.	0.000000	0.85682	D	0.000000	D	0.93465	0.7915	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91618	0.5308	7	0.87932	D	0	-20.9253	5.8773	0.18836	0.1604:0.0:0.6848:0.1548	.	.	.	.	R	518	ENSP00000295750:P518R	ENSP00000295750:P518R	P	-	2	0	ABCB6	219784033	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	0.865000	0.27940	0.649000	0.30751	-0.143000	0.13931	CCC		0.572	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		C	220075789	G	C	220075789	2	2	146	1	0	0	0	0	0	0	0	1	45	1219	43	4		4	ABCB6	2	220075789	Silent	SNP	G	TCGA-B0-4818-01A-01D-1501-10	37533133	220075789	23123584	17	8659											
OBSL1	23363	broad.mit.edu	37	2	220435111	220435111	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr2:220435111delC	ENST00000404537.1	-	1	900	c.844delG	c.(844-846)gagfs	p.E282fs	OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.E282fs|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.E282fs|OBSL1_ENST00000373876.1_Frame_Shift_Del_p.E282fs|INHA_ENST00000489456.1_Intron|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.E282fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	282	Ig-like 3.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGGCGGCCCTCCCAGTGCCAT	0.667																																																0													25	32	30					2																	220435111		2034	4154	6188	SO:0001589	frameshift_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.844delG	2.37:g.220435111delC	ENSP00000385636:p.Glu282fs		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Frame_Shift_Del	DEL	ENST00000404537.1	37	CCDS46520.1																																																																																				0.667	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			-	220435111	C	-	220435111	7	5	146	1	0	1	0	1	0	0	0	0	10815	864	30	0	5082	0	OBSL1	2	220435111	Frame_Shift_Del	DEL	C	TCGA-B0-4818-01A-01D-1501-10	359322	220435111	22764262	18	8660											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191645	10191646	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:10191645_10191646insT	ENST00000256474.2	+	3	1478_1479	c.638_639insT	c.(637-642)gattgafs	p.*214fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.*173fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	0					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.D213fs(1)|p.D213fs*>2(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGGATGGGAGATTGAAGATTTC	0.455		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	2	Complex - frameshift(1)|Insertion - Frameshift(1)	kidney(2)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.640dupT	3.37:g.10191647_10191647dupT	ENSP00000256474:p.*214fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.455	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191646	-	T	10191645	7	5	146	1	0	1	1	0	0	0	0	0	17167	333	12	0	648	0	VHL	3	10191645	Frame_Shift_Ins	INS	-	TCGA-B0-4818-01A-01D-1501-10		10191645	187830785	19	8661											
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52637738	52637738	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:52637738C>T	ENST00000296302.7	-	17	2579	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	PBRM1_ENST00000409057.1_Missense_Mutation_p.E860K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E860K|PBRM1_ENST00000356770.4_Missense_Mutation_p.E828K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E860K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E860K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E875K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E875K			Q86U86	PB1_HUMAN	polybromo 1	860	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E860K(2)|p.E828K(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATATATTTCTGAATCTGTC	0.323			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											45	43	44					3																	52637738		2203	4296	6499	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2578G>A	3.37:g.52637738C>T	ENSP00000296302:p.Glu860Lys		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	25.6	4.650801	0.87958	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.72	5.72	0.89469	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	L	0.54323	1.7	0.80722	D	1	D;D;P;D;D;D;D;D;D	0.69078	0.997;0.982;0.947;0.997;0.992;0.997;0.991;0.997;0.997	D;P;D;D;D;D;P;D;D	0.77004	0.984;0.785;0.924;0.978;0.968;0.989;0.852;0.978;0.978	T	0.51411	-0.8709	10	0.72032	D	0.01	-28.662	20.2504	0.98404	0.0:1.0:0.0:0.0	.	860;860;860;860;875;875;860;828;860	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	K	828;860;860;860;860;860;875;875;860;819	ENSP00000349213:E828K;ENSP00000378307:E860K;ENSP00000296302:E860K;ENSP00000338302:E860K;ENSP00000386593:E860K;ENSP00000386529:E860K;ENSP00000386643:E875K;ENSP00000386601:E875K;ENSP00000387775:E860K;ENSP00000397662:E819K	ENSP00000296302:E860K	E	-	1	0	PBRM1	52612778	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.750000	0.85110	2.850000	0.98022	0.650000	0.86243	GAA		0.323	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52637738	C	T	52637738	3	4	146	1	0	0	0	0	1	0	0	0	11493	922	32	2	2378	2	PBRM1	3	52637738	Missense_Mutation	SNP	C	TCGA-B0-4818-01A-01D-1501-10	42446093	52637738	145384692	20	8662	70	2									
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52637740	52637740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:52637740G>T	ENST00000296302.7	-	17	2577	c.2576C>A	c.(2575-2577)tCa>tAa	p.S859*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S859*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S859*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.S827*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S859*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S859*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S874*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S874*			Q86U86	PB1_HUMAN	polybromo 1	859	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S859*(2)|p.S827*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATATATTTCTGAATCTGTCCT	0.323			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											45	43	44					3																	52637740		2203	4296	6499	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2576C>A	3.37:g.52637740G>T	ENSP00000296302:p.Ser859*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	41	8.897938	0.98994	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6319	20.2504	0.98404	0.0:0.0:1.0:0.0	.	.	.	.	X	827;859;859;859;859;859;874;874;859;818	.	ENSP00000296302:S859X	S	-	2	0	PBRM1	52612780	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.779000	0.99018	2.850000	0.98022	0.650000	0.86243	TCA		0.323	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52637740	G	T	52637740	4	4	146	1	0	0	0	0	0	1	0	0	11493	1294	45	4	2380	4	PBRM1	3	52637740	Nonsense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10	2	52637740	145384690	21	8663	70	2									
GPR128	84873	broad.mit.edu;ucsc.edu	37	3	100356181	100356181	+	Silent	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:100356181C>T	ENST00000273352.3	+	6	901	c.633C>T	c.(631-633)ctC>ctT	p.L211L	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	211					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L211L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGAGTCAACTCCTAGATGCCA	0.378																																					Pancreas(87;185 1975 7223 18722)											1	Substitution - coding silent(1)	kidney(1)											155	137	143					3																	100356181		2203	4300	6503	SO:0001819	synonymous_variant	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.633C>T	3.37:g.100356181C>T			Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	CCDS2938.1																																																																																				0.378	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			T	100356181	C	T	100356181	2	4	146	1	0	0	0	0	0	0	0	1	6643	842	30	2		2	GPR128	3	100356181	Silent	SNP	C	TCGA-B0-4818-01A-01D-1501-10	47718441	100356181	97666249	22	8664											
PTPLB	201562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	123301066	123301066	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:123301066A>G	ENST00000383657.5	-	2	423	c.266T>C	c.(265-267)tTa>tCa	p.L89S		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	89					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)	p.L89S(1)		kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		TACCTCCAATAAGGCTCCAGT	0.383																																																1	Substitution - Missense(1)	kidney(1)											43	39	40					3																	123301066		1818	4076	5894	SO:0001583	missense	201562			AK074605	CCDS46895.1	3q21.1	2010-04-30			ENSG00000206527	ENSG00000206527			9640	protein-coding gene	gene with protein product		615939				15024066	Standard	NM_198402		Approved		uc003egj.2	Q6Y1H2	OTTHUMG00000159529	ENST00000383657.5:c.266T>C	3.37:g.123301066A>G	ENSP00000373153:p.Leu89Ser			Missense_Mutation	SNP	ENST00000383657.5	37	CCDS46895.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336689	0.60963	.	.	ENSG00000206527	ENST00000383657	T	0.32515	1.45	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000002	T	0.38214	0.1032	M	0.69185	2.1	0.80722	D	1	B	0.29212	0.237	B	0.35114	0.196	T	0.34279	-0.9835	10	0.59425	D	0.04	-10.0674	14.8272	0.70122	1.0:0.0:0.0:0.0	.	89	Q6Y1H2	HACD2_HUMAN	S	89	ENSP00000373153:L89S	ENSP00000373153:L89S	L	-	2	0	PTPLB	124783756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.688000	0.91260	2.091000	0.63221	0.533000	0.62120	TTA		0.383	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356021.3	NM_198402		G	123301066	A	G	123301066	3	3	146	1	0	0	0	0	1	0	0	0	12783	372	13	3	522	3	PTPLB	3	123301066	Missense_Mutation	SNP	A	TCGA-B0-4818-01A-01D-1501-10	22944885	123301066	74721364	23	8665											
BFSP2	8419	broad.mit.edu	37	3	133119014	133119014	+	Silent	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:133119014G>A	ENST00000302334.2	+	1	176	c.87G>A	c.(85-87)ggG>ggA	p.G29G		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	29	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.G29G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCTTCAGGGGGCCACGGTCAT	0.642																																																1	Substitution - coding silent(1)	kidney(1)											61	71	67					3																	133119014		2203	4300	6503	SO:0001819	synonymous_variant	8419			U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"Intermediate filaments type VI, eye lens intermediate filaments"	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.87G>A	3.37:g.133119014G>A			Q14D32|Q9HBW5	Silent	SNP	ENST00000302334.2	37	CCDS33859.1																																																																																				0.642	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			A	133119014	G	A	133119014	2	1	146	1	0	0	0	0	0	0	0	1	1416	1190	42	2		2	BFSP2	3	133119014	Silent	SNP	G	TCGA-B0-4818-01A-01D-1501-10	9817948	133119014	64903416	24	8666											
EHHADH	1962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184947235	184947235	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:184947235C>T	ENST00000231887.3	-	4	523	c.448G>A	c.(448-450)Gac>Aac	p.D150N	EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_Missense_Mutation_p.D54N	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	150	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.D150N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GTAATTAAGTCAAGTGCAGCA	0.463																																																1	Substitution - Missense(1)	kidney(1)											79	73	75					3																	184947235		2203	4300	6503	SO:0001583	missense	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.448G>A	3.37:g.184947235C>T	ENSP00000231887:p.Asp150Asn		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.800055	0.70567	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.69306	-0.39;-0.39	6.07	6.07	0.98685	Crotonase, core (1);	0.220504	0.53938	D	0.000056	T	0.68751	0.3035	M	0.66439	2.03	0.80722	D	1	P	0.42556	0.783	B	0.40256	0.324	T	0.69669	-0.5083	10	0.45353	T	0.12	-30.5334	19.4153	0.94694	0.0:1.0:0.0:0.0	.	150	Q08426	ECHP_HUMAN	N	150;150;54	ENSP00000231887:D150N;ENSP00000387746:D54N	ENSP00000231887:D150N	D	-	1	0	EHHADH	186429929	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	4.248000	0.58760	2.890000	0.99128	0.650000	0.86243	GAC		0.463	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			T	184947235	C	T	184947235	3	4	146	1	0	0	0	0	1	0	0	0	4984	826	29	2	1739	2	EHHADH	3	184947235	Missense_Mutation	SNP	C	TCGA-B0-4818-01A-01D-1501-10	51828221	184947235	13075195	25	8667											
LPP	4026	broad.mit.edu;hgsc.bcm.edu	37	3	188426055	188426055	+	Splice_Site	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr3:188426055G>T	ENST00000312675.4	+	7	1360	c.1114G>T	c.(1114-1116)Ggt>Tgt	p.G372C	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Splice_Site_p.G372C|LPP_ENST00000543006.1_Splice_Site_p.G372C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	372		Breakpoint for translocation to form HMGA2-LPP.			cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.G372C(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TGCCTTTCAGGGTGGCCATTC	0.517			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	1	Substitution - Missense(1)	kidney(1)											94	86	88					3																	188426055		2203	4300	6503	SO:0001630	splice_region_variant	4026			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1114-1G>T	3.37:g.188426055G>T			A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224385	0.39300	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.57273	1.69;0.41;0.41;1.29	5.74	0.867	0.19085	.	0.313426	0.27846	N	0.017613	T	0.51160	0.1658	L	0.48642	1.525	0.53005	D	0.999969	P;D;P	0.61697	0.898;0.99;0.805	P;P;B	0.53593	0.455;0.73;0.285	T	0.42310	-0.9459	9	.	.	.	.	8.1565	0.31171	0.4873:0.0:0.5127:0.0	.	225;372;372	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	C	372;372;372;209	ENSP00000393602:G372C;ENSP00000318089:G372C;ENSP00000438891:G372C;ENSP00000393008:G209C	.	G	+	1	0	LPP	189908749	0.998000	0.40836	0.998000	0.56505	0.122000	0.20287	0.297000	0.19101	0.076000	0.16826	0.563000	0.77884	GGT		0.517	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578	Missense_Mutation	T	188426055	G	T	188426055	5	4	146	1	0	0	0	0	0	0	1	0	8925	1246	43	4	1132	4	LPP	3	188426055	Splice_Site	SNP	G	TCGA-B0-4818-01A-01D-1501-10	3478820	188426055	9596375	26	8668											
PIGG	54872	broad.mit.edu;ucsc.edu	37	4	520921	520921	+	Silent	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr4:520921G>A	ENST00000453061.2	+	10	2269	c.2163G>A	c.(2161-2163)aaG>aaA	p.K721K	PIGG_ENST00000383028.4_Silent_p.K588K|PIGG_ENST00000310340.5_Silent_p.K713K|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Silent_p.K632K	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	721					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.K713K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTGTGTCCAAGGCTGCCCTGG	0.637																																																1	Substitution - coding silent(1)	kidney(1)											46	40	42					4																	520921		2203	4300	6503	SO:0001819	synonymous_variant	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2163G>A	4.37:g.520921G>A			B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	CCDS46992.1																																																																																				0.637	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		A	520921	G	A	520921	2	1	146	1	0	0	0	0	0	0	0	1	11890	991	35	2		2	PIGG	4	520921	Silent	SNP	G	TCGA-B0-4818-01A-01D-1501-10		520921	190633355	27	8669											
SEPT11	55752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77949832	77949832	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr4:77949832A>G	ENST00000264893.6	+	8	1205	c.1004A>G	c.(1003-1005)cAg>cGg	p.Q335R	SEPT11_ENST00000510515.1_Missense_Mutation_p.Q345R|SEPT11_ENST00000505788.1_Missense_Mutation_p.Q335R|SEPT11_ENST00000512575.1_3'UTR|SEPT11_ENST00000502584.1_Missense_Mutation_p.Q335R|SEPT11_ENST00000541121.1_Missense_Mutation_p.Q345R	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	335					cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.Q335R(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GGAGAACTGCAGAAGAAAGAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											87	90	89					4																	77949832		2203	4300	6503	SO:0001583	missense	55752			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.1004A>G	4.37:g.77949832A>G	ENSP00000264893:p.Gln335Arg		B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	CCDS34018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.4|22.4	4.289441|4.289441	0.80914|0.80914	.|.	.|.	ENSG00000138758|ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121|ENST00000506731	D;D;D;D;D;D|.	0.83075|.	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.74772|0.74772	0.3760|0.3760	M|M	0.71581|0.71581	2.175|2.175	0.53688|0.53688	D|D	0.999975|0.999975	B;B|.	0.19331|.	0.035;0.021|.	B;B|.	0.29663|.	0.105;0.049|.	T|T	0.74176|0.74176	-0.3750|-0.3750	10|5	0.51188|.	T|.	0.08|.	.|.	16.5763|16.5763	0.84648|0.84648	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	345;335|.	Q9NVA2-2;Q9NVA2|.	.;SEP11_HUMAN|.	R|G	335;335;327;335;345;345|64	ENSP00000264893:Q335R;ENSP00000426344:Q335R;ENSP00000420839:Q327R;ENSP00000424925:Q335R;ENSP00000422896:Q345R;ENSP00000443701:Q345R|.	ENSP00000264893:Q335R|.	Q|R	+|+	2|1	0|2	SEPT11|SEPT11	78168856|78168856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.832000|8.832000	0.92079|0.92079	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	CAG|AGA		0.393	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		G	77949832	A	G	77949832	3	3	146	1	0	0	0	0	1	0	0	0	14067	188	7	3	1034	3	SEPT11	4	77949832	Missense_Mutation	SNP	A	TCGA-B0-4818-01A-01D-1501-10	77428911	77949832	113204444	28	8670											
C5orf23	4883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32789575	32789575	+	3'UTR	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr5:32789575G>T	ENST00000265074.8	+	0	5093				AC026703.1_ENST00000326958.1_Missense_Mutation_p.R23M	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.R23M(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTGAACCACAGGAATGGTTCT	0.418																																																1	Substitution - Missense(1)	kidney(1)											88	90	89					5																	32789575		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3124G>T	5.37:g.32789575G>T			A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600631	0.13939	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.58	0.759	0.18438	.	.	.	.	.	T	0.35711	0.0941	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36890	-0.9729	5	0.87932	D	0	.	3.1388	0.06448	0.2998:0.0:0.5105:0.1897	.	.	.	.	M	23	.	ENSP00000318340:R23M	R	+	2	0	AC026703.1	32825332	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.187000	0.09656	0.261000	0.21753	0.591000	0.81541	AGG		0.418	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		T	32789575	G	T	32789575	1	4	146	0	1	0	0	0	0	0	0	0	2288	1000	35	4		4	C5orf23	5	32789575	3'UTR	SNP	G	TCGA-B0-4818-01A-01D-1501-10		32789575	148125685	29	8671											
SNCAIP	9627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	121759046	121759046	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr5:121759046C>T	ENST00000261368.8	+	4	876	c.614C>T	c.(613-615)gCa>gTa	p.A205V	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.A205V|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.A252V|SNCAIP_ENST00000503116.2_Missense_Mutation_p.A252V|SNCAIP_ENST00000261367.7_Missense_Mutation_p.A252V|SNCAIP_ENST00000504884.2_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	205					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.A252V(2)|p.A205V(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCCAACATGGCACCATTTTGT	0.463																																																3	Substitution - Missense(3)	kidney(3)											92	94	93					5																	121759046		2203	4300	6503	SO:0001583	missense	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.614C>T	5.37:g.121759046C>T	ENSP00000261368:p.Ala205Val		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784637	0.49997	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.12879	4.96;2.68;2.64;4.96;2.64;4.43	5.88	5.88	0.94601	.	0.414945	0.29699	N	0.011427	T	0.09291	0.0229	N	0.14661	0.345	0.58432	D	0.999998	B;B;B;B	0.31274	0.055;0.317;0.073;0.044	B;B;B;B	0.30572	0.02;0.117;0.053;0.014	T	0.37502	-0.9703	9	.	.	.	-2.9168	15.3324	0.74223	0.0:0.9317:0.0:0.0683	.	205;252;252;205	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	V	205;205;252;205;252;252	ENSP00000422106:A205V;ENSP00000261368:A205V;ENSP00000368848:A252V;ENSP00000368851:A205V;ENSP00000261367:A252V;ENSP00000423199:A252V	.	A	+	2	0	SNCAIP	121786945	0.541000	0.26417	0.014000	0.15608	0.927000	0.56198	3.321000	0.51999	2.797000	0.96272	0.561000	0.74099	GCA		0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			T	121759046	C	T	121759046	3	4	146	1	0	0	0	0	1	0	0	0	14847	710	25	2	624	2	SNCAIP	5	121759046	Missense_Mutation	SNP	C	TCGA-B0-4818-01A-01D-1501-10	88969471	121759046	59156214	30	8672											
SOX30	11063	broad.mit.edu;hgsc.bcm.edu	37	5	157078237	157078237	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr5:157078237T>C	ENST00000265007.6	-	1	1191	c.850A>G	c.(850-852)Ata>Gta	p.I284V	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.I284V	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	284					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I284V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCAATCTTATCAGCTCTGAA	0.557																																					Esophageal Squamous(31;525 799 19355 21125 41744)											1	Substitution - Missense(1)	kidney(1)											77	86	83					5																	157078237		2203	4300	6503	SO:0001583	missense	11063			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.850A>G	5.37:g.157078237T>C	ENSP00000265007:p.Ile284Val		O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849631	0.32699	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.98207	-4.79;-4.39	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000007	D	0.96352	0.8810	L	0.32530	0.975	0.80722	D	1	B;P	0.41214	0.336;0.742	P;B	0.44447	0.45;0.313	D	0.96769	0.9567	10	0.87932	D	0	.	12.8364	0.57775	0.0:0.0:0.0:1.0	.	284;284	O94993-2;O94993	.;SOX30_HUMAN	V	284	ENSP00000309343:I284V;ENSP00000265007:I284V	ENSP00000265007:I284V	I	-	1	0	SOX30	157010815	1.000000	0.71417	0.999000	0.59377	0.083000	0.17756	1.443000	0.35057	1.960000	0.56953	0.377000	0.23210	ATA		0.557	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		C	157078237	T	C	157078237	3	2	146	1	0	0	0	0	1	0	0	0	14958	1435	50	3	1431	3	SOX30	5	157078237	Missense_Mutation	SNP	T	TCGA-B0-4818-01A-01D-1501-10	35319191	157078237	23837023	31	8673											
HIST1H1C	3006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	26056217	26056217	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr6:26056217G>A	ENST00000343677.2	-	1	482	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	147					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.P147L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCTCTTCTTCGGAGTTGCGCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											67	79	75					6																	26056217		2202	4296	6498	SO:0001583	missense	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.440C>T	6.37:g.26056217G>A	ENSP00000339566:p.Pro147Leu		A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	G	7.033	0.560946	0.13498	.	.	ENSG00000187837	ENST00000343677	T	0.04654	3.58	4.76	3.9	0.45041	.	0.501449	0.19452	N	0.113911	T	0.01156	0.0038	N	0.14661	0.345	0.19945	N	0.999943	B	0.06786	0.001	B	0.04013	0.001	T	0.46303	-0.9201	10	0.62326	D	0.03	-9.3723	8.9634	0.35860	0.1017:0.0:0.8983:0.0	.	147	P16403	H12_HUMAN	L	147	ENSP00000339566:P147L	ENSP00000339566:P147L	P	-	2	0	HIST1H1C	26164196	0.035000	0.19736	0.034000	0.17996	0.039000	0.13416	1.155000	0.31700	1.364000	0.46038	0.655000	0.94253	CCG		0.577	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		A	26056217	G	A	26056217	3	1	146	1	0	0	0	0	1	0	0	0	7126	1116	39	1	205	1	HIST1H1C	6	26056217	Missense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10		26056217	145058850	32	8674											
VEGFA	7422	broad.mit.edu	37	6	43742101	43742101	+	Silent	SNP	A	A	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr6:43742101A>G	ENST00000523873.1	+	2	128	c.90A>G	c.(88-90)gcA>gcG	p.A30A	VEGFA_ENST00000372067.3_Silent_p.A210A|VEGFA_ENST00000230480.6_Silent_p.A2A|VEGFA_ENST00000520948.1_Silent_p.A30A|VEGFA_ENST00000372077.4_Silent_p.A30A|VEGFA_ENST00000413642.3_Silent_p.A210A|VEGFA_ENST00000372055.4_Silent_p.A210A|VEGFA_ENST00000324450.6_Silent_p.A210A|VEGFA_ENST00000482630.2_Silent_p.A210A|VEGFA_ENST00000523950.1_Silent_p.A30A|VEGFA_ENST00000457104.2_Silent_p.A30A|VEGFA_ENST00000372064.4_Silent_p.A210A|VEGFA_ENST00000518689.1_Silent_p.A30A|VEGFA_ENST00000425836.2_Silent_p.A210A|VEGFA_ENST00000523125.1_Silent_p.A30A|VEGFA_ENST00000417285.2_Silent_p.A210A|VEGFA_ENST00000518824.1_Silent_p.A30A			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	30					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)	p.A210A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	CACCCATGGCAGAAGGAGGAG	0.617											OREG0017458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											86	72	77					6																	43742101		2203	4300	6503	SO:0001819	synonymous_variant	7422			AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"vascular endothelial growth factor"	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.90A>G	6.37:g.43742101A>G		918	B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Silent	SNP	ENST00000523873.1	37	CCDS55010.1	.	.	.	.	.	.	.	.	.	.	A	2.864	-0.235458	0.05983	.	.	ENSG00000112715	ENST00000519767	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	T	0.49695	0.1572	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51340	-0.8718	4	.	.	.	-1.2834	10.3072	0.43687	1.0:0.0:0.0:0.0	.	.	.	.	G	182	.	.	R	+	1	2	VEGFA	43850079	0.971000	0.33674	0.975000	0.42487	0.011000	0.07611	0.724000	0.25954	1.935000	0.56089	0.459000	0.35465	AGA		0.617	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		G	43742101	A	G	43742101	2	3	146	1	0	0	0	0	0	0	0	1	17155	175	7	3		3	VEGFA	6	43742101	Silent	SNP	A	TCGA-B0-4818-01A-01D-1501-10	17685884	43742101	127372966	33	8675											
C6orf97	80129	hgsc.bcm.edu	37	6	151936781	151936781	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr6:151936781A>C	ENST00000239374.7	+	10	2013	c.1914A>C	c.(1912-1914)aaA>aaC	p.K638N	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.K645N	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	638																	CACTAAAAAAATCTCTGGAAG	0.388																																																0													131	128	129					6																	151936781		1823	4076	5899	SO:0001583	missense	0			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1914A>C	6.37:g.151936781A>C	ENSP00000239374:p.Lys638Asn		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.270679	0.59540	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09163	3.01;3.01	5.95	-8.3	0.01005	.	0.390641	0.28853	N	0.013923	T	0.03390	0.0098	M	0.72118	2.19	0.09310	N	0.999997	P	0.47762	0.9	B	0.42386	0.386	T	0.12941	-1.0528	10	0.28530	T	0.3	-8.5428	7.3777	0.26837	0.3705:0.0876:0.4624:0.0795	.	638	Q8IYT3	CF097_HUMAN	N	638;645	ENSP00000239374:K638N;ENSP00000356259:K645N	ENSP00000239374:K638N	K	+	3	2	C6orf97	151978474	0.051000	0.20477	0.039000	0.18376	0.967000	0.64934	-0.357000	0.07651	-1.145000	0.02858	0.533000	0.62120	AAA		0.388	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		C	151936781	A	C	151936781	3	2	146	1	0	0	0	0	1	0	0	0	2376	98	4	5	1952	5	C6orf97	6	151936781	Missense_Mutation	SNP	A	TCGA-B0-4818-01A-01D-1501-10	108194680	151936781	19178286	34	8676											
BZW2	28969	broad.mit.edu;ucsc.edu	37	7	16720980	16720980	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr7:16720980G>A	ENST00000433922.2	+	4	468	c.290G>A	c.(289-291)tGt>tAt	p.C97Y	BZW2_ENST00000258761.3_Missense_Mutation_p.C97Y|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000452975.2_Missense_Mutation_p.C97Y|BZW2_ENST00000405202.1_Missense_Mutation_p.C21Y	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	97					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)		p.C97Y(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		ACCAACCACTGTGTGTTTTCA	0.418																																																1	Substitution - Missense(1)	kidney(1)											153	134	141					7																	16720980		2203	4300	6503	SO:0001583	missense	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.290G>A	7.37:g.16720980G>A	ENSP00000397249:p.Cys97Tyr		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030745	0.93575	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000405202;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.995	D;D;D	0.87578	0.979;0.998;0.979	D	0.83619	0.0138	10	0.87932	D	0	-16.0122	20.2527	0.98410	0.0:0.0:1.0:0.0	.	97;97;97	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	Y	97;97;97;97;21;97;97;97	ENSP00000403481:C97Y;ENSP00000258761:C97Y;ENSP00000397249:C97Y;ENSP00000411715:C97Y;ENSP00000385577:C21Y;ENSP00000412750:C97Y;ENSP00000415924:C97Y;ENSP00000416531:C97Y	ENSP00000258761:C97Y	C	+	2	0	BZW2	16687505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.810000	0.99221	2.788000	0.95919	0.557000	0.71058	TGT		0.418	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		A	16720980	G	A	16720980	3	1	146	1	0	0	0	0	1	0	0	0	1581	1377	48	2	300	2	BZW2	7	16720980	Missense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10		16720980	142417683	35	8677											
MFHAS1	9258	broad.mit.edu	37	8	8749266	8749266	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr8:8749266delC	ENST00000276282.6	-	1	1889	c.1303delG	c.(1303-1305)gagfs	p.E435fs		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	435	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GGGCATCCCTCCACTCTCTCC	0.647																																					Melanoma(103;1201 2045 17515 28966)											0													66	56	60					8																	8749266		2203	4300	6503	SO:0001589	frameshift_variant	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1303delG	8.37:g.8749266delC	ENSP00000276282:p.Glu435fs		Q96CI0	Frame_Shift_Del	DEL	ENST00000276282.6	37	CCDS34844.1																																																																																				0.647	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		-	8749266	C	-	8749266	7	5	146	1	0	1	0	1	0	0	0	0	9523	864	30	0	1867	0	MFHAS1	8	8749266	Frame_Shift_Del	DEL	C	TCGA-B0-4818-01A-01D-1501-10		8749266	137614756	36	8678											
PTDSS1	9791	broad.mit.edu;ucsc.edu	37	8	97316399	97316399	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr8:97316399T>A	ENST00000517309.1	+	7	1210	c.884T>A	c.(883-885)aTc>aAc	p.I295N	PTDSS1_ENST00000455950.2_Missense_Mutation_p.I149N|PTDSS1_ENST00000522072.1_Missense_Mutation_p.I92N	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	295					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.I295N(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTTTTCATGATCATCTGGCAG	0.383																																																1	Substitution - Missense(1)	kidney(1)											164	166	165					8																	97316399		2203	4300	6503	SO:0001583	missense	9791			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.884T>A	8.37:g.97316399T>A	ENSP00000430548:p.Ile295Asn		E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711593	0.89112	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.50813	0.76;0.77;0.73	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	M	0.72894	2.215	0.80722	D	1	D	0.58970	0.984	D	0.65140	0.932	T	0.69450	-0.5142	10	0.66056	D	0.02	-33.3483	14.741	0.69455	0.0:0.0:0.0:1.0	.	295	P48651	PTSS1_HUMAN	N	295;149;92	ENSP00000430548:I295N;ENSP00000401248:I149N;ENSP00000430928:I92N	ENSP00000401248:I149N	I	+	2	0	PTDSS1	97385575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.003000	0.88520	2.217000	0.71921	0.533000	0.62120	ATC		0.383	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			A	97316399	T	A	97316399	3	1	146	1	0	0	0	0	1	0	0	0	12741	1435	50	5	910	5	PTDSS1	8	97316399	Missense_Mutation	SNP	T	TCGA-B0-4818-01A-01D-1501-10	88567133	97316399	49047623	37	8679											
MPDZ	8777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	13224388	13224388	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr9:13224388G>C	ENST00000319217.7	-	4	625	c.378C>G	c.(376-378)atC>atG	p.I126M	MPDZ_ENST00000447879.1_Missense_Mutation_p.I126M|MPDZ_ENST00000546205.1_Missense_Mutation_p.I126M|MPDZ_ENST00000536827.1_Missense_Mutation_p.I126M|MPDZ_ENST00000541718.1_Missense_Mutation_p.I126M|MPDZ_ENST00000381022.2_Missense_Mutation_p.I126M|MPDZ_ENST00000381015.4_Missense_Mutation_p.I126M	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	126					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.I126M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCATATTTTTGATAAGCTGAT	0.333																																																2	Substitution - Missense(2)	kidney(2)											111	105	107					9																	13224388		1826	4080	5906	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.378C>G	9.37:g.13224388G>C	ENSP00000320006:p.Ile126Met		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	G	16.72	3.200820	0.58234	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.16743	2.38;2.33;2.33;2.32;2.36;2.38;2.38	5.72	0.0386	0.14201	.	0.142508	0.32055	N	0.006648	T	0.22898	0.0553	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.83275	0.994;0.989;0.996	T	0.09357	-1.0678	10	0.87932	D	0	.	3.0449	0.06151	0.2132:0.1188:0.5456:0.1224	.	126;126;126	B7ZMI4;O75970-3;O75970-2	.;.;.	M	126	ENSP00000320006:I126M;ENSP00000439807:I126M;ENSP00000370410:I126M;ENSP00000444151:I126M;ENSP00000415208:I126M;ENSP00000370403:I126M;ENSP00000446358:I126M	ENSP00000320006:I126M	I	-	3	3	MPDZ	13214388	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.130000	0.31393	0.007000	0.14760	0.655000	0.94253	ATC		0.333	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		C	13224388	G	C	13224388	3	2	146	1	0	0	0	0	1	0	0	0	9724	1280	45	4	5919	4	MPDZ	9	13224388	Missense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10		13224388	127989043	38	8680											
TOPORS	10210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32543675	32543675	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr9:32543675G>A	ENST00000360538.2	-	3	964	c.848C>T	c.(847-849)gCt>gTt	p.A283V	TOPORS_ENST00000379858.1_Missense_Mutation_p.A218V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	283	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A283V(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GAAAAATTCAGCTGAAATATC	0.383																																																1	Substitution - Missense(1)	kidney(1)											59	63	62					9																	32543675		2203	4300	6503	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.848C>T	9.37:g.32543675G>A	ENSP00000353735:p.Ala283Val		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430283	0.62844	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.24350	1.86;1.9	5.93	5.93	0.95920	.	0.000000	0.50627	D	0.000118	T	0.52025	0.1709	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	T	0.46219	-0.9207	10	0.54805	T	0.06	-37.1905	19.1082	0.93305	0.0:0.0:1.0:0.0	.	283	Q9NS56	TOPRS_HUMAN	V	283;218	ENSP00000353735:A283V;ENSP00000369187:A218V	ENSP00000353735:A283V	A	-	2	0	TOPORS	32533675	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.439000	0.97543	2.805000	0.96524	0.655000	0.94253	GCT		0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		A	32543675	G	A	32543675	3	1	146	1	0	0	0	0	1	0	0	0	16375	971	34	2	2293	2	TOPORS	9	32543675	Missense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10	19319287	32543675	108669756	39	8681											
C9orf64	84267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86571091	86571091	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr9:86571091C>G	ENST00000376344.3	-	1	541	c.325G>C	c.(325-327)Gcc>Ccc	p.A109P	C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	109								p.A109P(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TCGTCGAGGGCTCTGTTGACG	0.557																																																1	Substitution - Missense(1)	kidney(1)											127	124	125					9																	86571091		2064	4193	6257	SO:0001583	missense	84267			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.325G>C	9.37:g.86571091C>G	ENSP00000365522:p.Ala109Pro		B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	C	34	5.304995	0.95601	.	.	ENSG00000165118	ENST00000376344	.	.	.	5.3	4.38	0.52667	.	0.056913	0.64402	D	0.000001	D	0.85444	0.5698	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88845	0.3315	9	0.72032	D	0.01	-18.0841	14.8353	0.70177	0.0:0.927:0.0:0.073	.	109	Q5T6V5	CI064_HUMAN	P	109	.	ENSP00000365522:A109P	A	-	1	0	C9orf64	85760911	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.741000	0.68638	2.645000	0.89757	0.563000	0.77884	GCC		0.557	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		G	86571091	C	G	86571091	3	3	146	1	0	0	0	0	1	0	0	0	2491	797	28	4	716	4	C9orf64	9	86571091	Missense_Mutation	SNP	C	TCGA-B0-4818-01A-01D-1501-10	54027416	86571091	54642340	40	8682											
TDRD7	23424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100234634	100234635	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr9:100234634_100234635GG>CT	ENST00000355295.4	+	10	2096_2097	c.1801_1802GG>CT	c.(1801-1803)GGa>CTa	p.G601L	TDRD7_ENST00000422139.2_Missense_Mutation_p.G527L|TDRD7_ENST00000540902.1_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	601					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.G601V(1)|p.G601R(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TTTAACTTGTGGAAAGATCTTT	0.371																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	23424			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	Exception_encountered	9.37:g.100234634_100234635delinsCT	ENSP00000347444:p.Gly601Leu		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	CCDS6725.1																																																																																				0.371	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		CT	100234635	GG	CT	100234634	3	2	146	1	0	0	0	0	1	0	0	0	15740	1349	47	4	1835	4	TDRD7	9	100234634	Missense_Mutation	DNP	GG	TCGA-B0-4818-01A-01D-1501-10	13663543	100234634	40978797	41	8683											
TNC	3371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	117840320	117840320	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr9:117840320G>T	ENST00000350763.4	-	7	2987	c.2576C>A	c.(2575-2577)tCc>tAc	p.S859Y	TNC_ENST00000346706.3_Missense_Mutation_p.S859Y|TNC_ENST00000345230.3_Missense_Mutation_p.S859Y|TNC_ENST00000542877.1_Missense_Mutation_p.S859Y|TNC_ENST00000340094.3_Missense_Mutation_p.S859Y|TNC_ENST00000423613.2_Missense_Mutation_p.S859Y|TNC_ENST00000535648.1_Missense_Mutation_p.S859Y|TNC_ENST00000537320.1_Missense_Mutation_p.S859Y|TNC_ENST00000341037.4_Missense_Mutation_p.S859Y	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	859	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.S859Y(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTTCCCGATGGAGTACTGGTT	0.557																																																1	Substitution - Missense(1)	kidney(1)											238	166	190					9																	117840320		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2576C>A	9.37:g.117840320G>T	ENSP00000265131:p.Ser859Tyr		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793108	0.70452	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.48	3.64	0.41730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.476291	0.25975	N	0.027109	T	0.70675	0.3251	M	0.78801	2.425	0.50813	D	0.999898	D;D	0.71674	0.998;0.998	D;D	0.79108	0.989;0.992	T	0.71623	-0.4537	10	0.48119	T	0.1	.	12.7824	0.57485	0.0:0.1253:0.7441:0.1306	.	859;859	E9PC84;P24821	.;TENA_HUMAN	Y	859	ENSP00000344400:S859Y;ENSP00000438152:S859Y;ENSP00000344555:S859Y;ENSP00000345861:S859Y;ENSP00000265131:S859Y;ENSP00000339553:S859Y;ENSP00000411406:S859Y;ENSP00000443478:S859Y;ENSP00000442242:S859Y	ENSP00000344400:S859Y	S	-	2	0	TNC	116880141	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.738000	0.38207	0.794000	0.33899	0.655000	0.94253	TCC		0.557	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117840320	G	T	117840320	3	4	146	1	0	0	0	0	1	0	0	0	16275	1174	41	4	4117	4	TNC	9	117840320	Missense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10	17605686	117840320	23373111	42	8684											
AGAP7	653268	broad.mit.edu;hgsc.bcm.edu	37	10	51464817	51464817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr10:51464817T>A	ENST00000374095.5	-	7	1764	c.1639A>T	c.(1639-1641)Aaa>Taa	p.K547*		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		547	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K547*(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCCTCATATTTGGAACGGATC	0.592																																																1	Substitution - Nonsense(1)	kidney(1)											55	71	66					10																	51464817		2197	4293	6490	SO:0001587	stop_gained	653268																														ENST00000374095.5:c.1639A>T	10.37:g.51464817T>A	ENSP00000363208:p.Lys547*		A6NGH4	Nonsense_Mutation	SNP	ENST00000374095.5	37	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.935843	0.73442	.	.	ENSG00000204169	ENST00000374095	.	.	.	.	.	.	.	0.101382	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6093	0.12395	0.0:5.0E-4:0.0:0.9995	.	.	.	.	X	547	.	ENSP00000363208:K547X	K	-	1	0	AGAP7	51134823	0.999000	0.42202	0.036000	0.18154	0.036000	0.12997	3.762000	0.55250	0.149000	0.19098	0.147000	0.16070	AAA		0.592	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			A	51464817	T	A	51464817	4	1	146	1	0	0	0	0	0	1	0	0	373	1821	63	5	356	5	AGAP7	10	51464817	Nonsense_Mutation	SNP	T	TCGA-B0-4818-01A-01D-1501-10		51464817	84069930	43	8685											
SLC16A9	220963	hgsc.bcm.edu	37	10	61412636	61412653	+	In_Frame_Del	DEL	CCTCCCAGCAGGACGCAG	CCTCCCAGCAGGACGCAG	-	rs200128557|rs76116242|rs576698927	byFrequency	TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	CCTCCCAGCAGGACGCAG	CCTCCCAGCAGGACGCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr10:61412636_61412653delCCTCCCAGCAGGACGCAG	ENST00000395348.3	-	6	2043_2060	c.1407_1424delCTGCGTCCTGCTGGGAGG	c.(1405-1425)ttctgcgtcctgctgggaggt>ttt	p.CVLLGG470del	SLC16A9_ENST00000395347.1_In_Frame_Del_p.CVLLGG470del	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	470					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGAATAAAACCTCCCAGCAGGACGCAGAAGCCACTAA	0.427																																																0										11,4253		0,11,2121						-11.1	0			77	30,8224		0,30,4097	no	coding	SLC16A9	NM_194298.2		0,41,6218	A1A1,A1R,RR		0.3635,0.258,0.3275				41,12477				SO:0001651	inframe_deletion	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1407_1424delCTGCGTCCTGCTGGGAGG	10.37:g.61412636_61412653delCCTCCCAGCAGGACGCAG	ENSP00000378757:p.Cys470_Gly475del		Q6ZMI2|Q9UFH8	In_Frame_Del	DEL	ENST00000395348.3	37	CCDS7256.1																																																																																				0.427	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		-	61412653	CCTCCCAGCAGGACGCAG	-	61412636	7	5	146	1	0	1	0	1	0	0	0	0	14421	507	18	0	109	0	SLC16A9	10	61412636	In_Frame_Del	DEL	CCTCCCAGCAGGACGCAG	TCGA-B0-4818-01A-01D-1501-10	9947819	61412636	74122111	44	8686											
C10orf118	55088	hgsc.bcm.edu;ucsc.edu	37	10	115894782	115894782	+	Silent	SNP	T	T	A	rs112902585	byFrequency	TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr10:115894782T>A	ENST00000369287.3	-	10	1811	c.1545A>T	c.(1543-1545)acA>acT	p.T515T	C10orf118_ENST00000543782.1_Silent_p.T113T	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		515										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ATTCATCTTCTGTTCTTAATC	0.313																																																0													93	92	93					10																	115894782		2203	4298	6501	SO:0001819	synonymous_variant	55088																														ENST00000369287.3:c.1545A>T	10.37:g.115894782T>A			Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Silent	SNP	ENST00000369287.3	37	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.355239	0.24512	.	.	ENSG00000165813	ENST00000428953	.	.	.	6.14	2.53	0.30540	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6824	0.17784	0.0:0.1979:0.1319:0.6703	.	.	.	.	X	144	.	.	R	-	1	2	C10orf118	115884772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.373000	0.34272	0.196000	0.20367	0.529000	0.55759	AGA		0.313	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			A	115894782	T	A	115894782	2	1	146	1	0	0	0	0	0	0	0	1	1589	1567	55	5		5	C10orf118	10	115894782	Silent	SNP	T	TCGA-B0-4818-01A-01D-1501-10	54482146	115894782	19639965	45	8687											
NUP98	4928	broad.mit.edu;ucsc.edu	37	11	3700799	3700799	+	Silent	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr11:3700799G>A	ENST00000324932.7	-	31	5478	c.5058C>T	c.(5056-5058)ctC>ctT	p.L1686L	NUP98_ENST00000355260.3_Silent_p.L1612L|NUP98_ENST00000359171.4_Silent_p.L1612L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1703					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.L1686L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTATATGGCGGAGCATTTCAA	0.463			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	1	Substitution - coding silent(1)	kidney(1)											91	88	89					11																	3700799		2201	4298	6499	SO:0001819	synonymous_variant	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5058C>T	11.37:g.3700799G>A			Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.664|1.664	-0.510698|-0.510698	0.04231|0.04231	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000533346	.|.	.|.	.|.	5.58|5.58	0.227|0.227	0.15359|0.15359	.|.	.|.	.|.	.|.	.|.	T|T	0.42494|0.42494	0.1205|0.1205	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.22977|0.22977	-1.0201|-1.0201	4|4	.|.	.|.	.|.	-4.8082|-4.8082	2.1117|2.1117	0.03704|0.03704	0.2293:0.2538:0.399:0.1179|0.2293:0.2538:0.399:0.1179	.|.	.|.	.|.	.|.	S|F	639|40	.|.	.|.	P|S	-|-	1|2	0|0	NUP98|NUP98	3657375|3657375	0.974000|0.974000	0.33945|0.33945	0.990000|0.990000	0.47175|0.47175	0.300000|0.300000	0.27592|0.27592	0.139000|0.139000	0.16036|0.16036	0.074000|0.074000	0.16767|0.16767	-0.384000|-0.384000	0.06662|0.06662	CCG|TCC		0.463	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		A	3700799	G	A	3700799	2	1	146	1	0	0	0	0	0	0	0	1	10775	1161	41	2		2	NUP98	11	3700799	Silent	SNP	G	TCGA-B0-4818-01A-01D-1501-10		3700799	131305717	46	8688											
TCP11L1	55346	hgsc.bcm.edu;ucsc.edu	37	11	33065367	33065367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr11:33065367delA	ENST00000334274.4	+	2	448	c.48delA	c.(46-48)tcafs	p.S16fs	TCP11L1_ENST00000432887.1_Frame_Shift_Del_p.S16fs|TCP11L1_ENST00000530171.1_3'UTR|TCP11L1_ENST00000531632.2_Frame_Shift_Del_p.S16fs	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	16						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CAGGAAAATCAAAATCCAATG	0.378																																																0													179	186	184					11																	33065367		2202	4298	6500	SO:0001589	frameshift_variant	55346			BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.48delA	11.37:g.33065367delA	ENSP00000335595:p.Ser16fs		D3DR01|Q8IVX4	Frame_Shift_Del	DEL	ENST00000334274.4	37	CCDS7882.1																																																																																				0.378	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		-	33065367	A	-	33065367	7	5	146	1	0	1	0	1	0	0	0	0	15719	117	5	0	50	0	TCP11L1	11	33065367	Frame_Shift_Del	DEL	A	TCGA-B0-4818-01A-01D-1501-10	29364568	33065367	101941149	47	8689											
OR4C12	283093	broad.mit.edu;hgsc.bcm.edu	37	11	50003804	50003804	+	Missense_Mutation	SNP	C	C	A	rs372332230		TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr11:50003804C>A	ENST00000335238.4	-	1	267	c.234G>T	c.(232-234)aaG>aaT	p.K78N		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K78N(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CCACAATCAACTTAGGAGCTG	0.433																																																1	Substitution - Missense(1)	kidney(1)											79	82	81					11																	50003804		2201	4296	6497	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.234G>T	11.37:g.50003804C>A	ENSP00000334418:p.Lys78Asn		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	8.500	0.864060	0.17250	.	.	ENSG00000221954	ENST00000335238	T	0.01359	4.98	3.31	-1.12	0.09808	GPCR, rhodopsin-like superfamily (1);	0.154905	0.28815	U	0.014054	T	0.02267	0.0070	M	0.78344	2.41	0.09310	N	0.999995	P	0.38078	0.617	B	0.40375	0.327	T	0.33828	-0.9853	10	0.54805	T	0.06	.	3.5676	0.07905	0.1761:0.3764:0.0:0.4475	.	78	Q96R67	OR4CC_HUMAN	N	78	ENSP00000334418:K78N	ENSP00000334418:K78N	K	-	3	2	OR4C12	49960380	0.000000	0.05858	0.017000	0.16124	0.796000	0.44982	-1.681000	0.01937	-0.339000	0.08401	0.398000	0.26397	AAG		0.433	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		A	50003804	C	A	50003804	3	1	146	1	0	0	0	0	1	0	0	0	11048	564	20	4	699	4	OR4C12	11	50003804	Missense_Mutation	SNP	C	TCGA-B0-4818-01A-01D-1501-10	16938437	50003804	85002712	48	8690											
PLEKHA5	54477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	19514587	19514587	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr12:19514587A>T	ENST00000299275.6	+	23	3063	c.3057A>T	c.(3055-3057)gaA>gaT	p.E1019D	PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E1185D|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E1077D|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E1082D|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E777D|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E1008D|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E963D|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E1077D|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E1001D	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1019					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.E1180D(1)|p.E1019D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATTCTGTGGAAATGATGGATA	0.284																																					Pancreas(196;329 2193 11246 14234 19524)											2	Substitution - Missense(2)	kidney(2)											67	71	69					12																	19514587		2203	4300	6503	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.3057A>T	12.37:g.19514587A>T	ENSP00000299275:p.Glu1019Asp		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702417	0.48307	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.11712	2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.75;2.95	4.37	4.37	0.52481	.	0.057597	0.64402	D	0.000002	T	0.18882	0.0453	L	0.29908	0.895	0.28548	N	0.911759	D;B;B;B;D;B;B;B	0.67145	0.979;0.007;0.004;0.189;0.996;0.007;0.0;0.003	P;B;B;B;D;B;B;B	0.72625	0.789;0.008;0.004;0.142;0.978;0.006;0.001;0.009	T	0.01464	-1.1348	10	0.52906	T	0.07	-12.0557	10.1805	0.42965	1.0:0.0:0.0:0.0	.	1082;1001;1008;1180;963;1185;1019;1077	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	D	1082;1077;963;1181;1185;1019;777;1077;1008;1001;974;300	ENSP00000325155:E1082D;ENSP00000347560:E1077D;ENSP00000352104:E963D;ENSP00000404296:E1185D;ENSP00000299275:E1019D;ENSP00000440611:E777D;ENSP00000439673:E1077D;ENSP00000400411:E1008D;ENSP00000439837:E1001D;ENSP00000440371:E974D;ENSP00000443553:E300D	ENSP00000299275:E1019D	E	+	3	2	PLEKHA5	19405854	0.145000	0.22656	0.888000	0.34837	0.841000	0.47740	0.234000	0.17930	1.949000	0.56562	0.378000	0.23410	GAA		0.284	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		T	19514587	A	T	19514587	3	4	146	1	0	0	0	0	1	0	0	0	12061	11	1	5	3465	5	PLEKHA5	12	19514587	Missense_Mutation	SNP	A	TCGA-B0-4818-01A-01D-1501-10		19514587	114337308	49	8691											
CCDC65	85478	hgsc.bcm.edu;ucsc.edu	37	12	49312242	49312242	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr12:49312242delT	ENST00000320516.4	+	5	982	c.794delT	c.(793-795)atafs	p.I265fs	CCDC65_ENST00000266984.5_Frame_Shift_Del_p.I265fs|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	265										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						ATGAAAAAAATACAGAAACTA	0.453																																																0													51	52	51					12																	49312242		2203	4300	6503	SO:0001589	frameshift_variant	85478				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.794delT	12.37:g.49312242delT	ENSP00000312706:p.Ile265fs		A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Frame_Shift_Del	DEL	ENST00000320516.4	37	CCDS8772.1																																																																																				0.453	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		-	49312242	T	-	49312242	7	5	146	1	0	1	0	1	0	0	0	0	2839	1406	49	0	812	0	CCDC65	12	49312242	Frame_Shift_Del	DEL	T	TCGA-B0-4818-01A-01D-1501-10	29797655	49312242	84539653	50	8692											
CRYL1	51084	broad.mit.edu;ucsc.edu	37	13	21063530	21063530	+	Silent	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr13:21063530T>C	ENST00000298248.7	-	3	317	c.255A>G	c.(253-255)gtA>gtG	p.V85V	CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000382812.1_Silent_p.V63V	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	85					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)	p.V85V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TGGCACCCTCTACTGCTTCTT	0.557											OREG0022283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											83	90	88					13																	21063530		2021	4181	6202	SO:0001819	synonymous_variant	51084			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"crystallin, lamda 1", "L-gulonate 3-dehydrogenase", "lambda-crystallin homolog"	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.255A>G	13.37:g.21063530T>C		745	A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Silent	SNP	ENST00000298248.7	37	CCDS41871.1																																																																																				0.557	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		C	21063530	T	C	21063530	2	2	146	1	0	0	0	0	0	0	0	1	3922	1509	53	3		3	CRYL1	13	21063530	Silent	SNP	T	TCGA-B0-4818-01A-01D-1501-10		21063530	94106348	51	8693											
C13orf18	80183	broad.mit.edu;ucsc.edu	37	13	46919715	46919715	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr13:46919715T>C	ENST00000429979.1	-	13	2256	c.1652A>G	c.(1651-1653)cAg>cGg	p.Q551R	KIAA0226L_ENST00000534925.1_Missense_Mutation_p.Q416R|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.Q484R|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.Q394R|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.Q394R|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.Q551R|KIAA0226L_ENST00000378781.3_3'UTR	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	551								p.Q551R(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCCCGGCACCTGCTCGAACTC	0.522																																																1	Substitution - Missense(1)	kidney(1)											45	44	45					13																	46919715		1944	4139	6083	SO:0001583	missense	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1652A>G	13.37:g.46919715T>C	ENSP00000396935:p.Gln551Arg		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	T	16.06	3.014893	0.54468	.	.	ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T	0.46819	0.86;0.86;0.86;0.88	5.35	5.35	0.76521	.	.	.	.	.	T	0.38348	0.1037	L	0.45422	1.42	0.80722	D	1	B;B;B;B;B	0.24963	0.013;0.013;0.115;0.055;0.087	B;B;B;B;B	0.30401	0.036;0.036;0.115;0.06;0.064	T	0.16188	-1.0411	9	0.10377	T	0.69	-12.1972	10.6057	0.45392	0.0:0.0779:0.0:0.9221	.	394;394;551;416;484	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.;.;K226L_HUMAN;.;.	R	551;484;551;394;394;416	ENSP00000396935:Q551R;ENSP00000368061:Q484R;ENSP00000374558:Q551R;ENSP00000437501:Q416R	ENSP00000315633:Q394R	Q	-	2	0	KIAA0226L	45817716	0.993000	0.37304	1.000000	0.80357	0.950000	0.60333	1.497000	0.35649	2.016000	0.59253	0.533000	0.62120	CAG		0.522	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		C	46919715	T	C	46919715	3	2	146	1	0	0	0	0	1	0	0	0	1722	1580	55	3	348	3	C13orf18	13	46919715	Missense_Mutation	SNP	T	TCGA-B0-4818-01A-01D-1501-10	25856185	46919715	68250163	52	8694											
FAM179B	23116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45433557	45433557	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr14:45433557T>A	ENST00000361577.3	+	1	2147	c.1933T>A	c.(1933-1935)Tgt>Agt	p.C645S	FAM179B_ENST00000382233.2_Missense_Mutation_p.C645S|KLHL28_ENST00000553817.1_Intron|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.C645S	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	645								p.C645S(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCCAACTATCTGTACCCGAAG	0.453																																																1	Substitution - Missense(1)	kidney(1)											76	71	73					14																	45433557		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1933T>A	14.37:g.45433557T>A	ENSP00000355045:p.Cys645Ser		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.487935	0.26686	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04406	3.63;3.63;3.63	4.93	4.93	0.64822	Armadillo-type fold (1);	0.325242	0.29594	N	0.011710	T	0.02807	0.0084	N	0.14661	0.345	0.34911	D	0.747464	B;P;B;B	0.42248	0.063;0.774;0.05;0.063	B;B;B;B	0.36608	0.04;0.229;0.02;0.04	T	0.53121	-0.8483	10	0.12103	T	0.63	-8.7338	10.9056	0.47078	0.0:0.0:0.0:1.0	.	645;645;645;645	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	S	645	ENSP00000355045:C645S;ENSP00000354917:C645S;ENSP00000371668:C645S	ENSP00000354917:C645S	C	+	1	0	FAM179B	44503307	0.846000	0.29590	0.965000	0.40720	0.547000	0.35210	1.258000	0.32944	2.077000	0.62373	0.459000	0.35465	TGT		0.453	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		A	45433557	T	A	45433557	3	1	146	1	0	0	0	0	1	0	0	0	5508	1580	55	5	1935	5	FAM179B	14	45433557	Missense_Mutation	SNP	T	TCGA-B0-4818-01A-01D-1501-10		45433557	61915983	53	8695											
HERC2	8924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	28436294	28436294	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr15:28436294C>A	ENST00000261609.7	-	54	8656	c.8548G>T	c.(8548-8550)Gta>Tta	p.V2850L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.V2850L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTGACACTACAACCAGGGAC	0.373																																																1	Substitution - Missense(1)	kidney(1)											113	113	113					15																	28436294		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8548G>T	15.37:g.28436294C>A	ENSP00000261609:p.Val2850Leu			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705082	0.68615	.	.	ENSG00000128731	ENST00000261609	T	0.71579	-0.58	5.56	5.56	0.83823	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	D	0.83922	0.5359	M	0.72353	2.195	0.80722	D	1	P;D	0.69078	0.704;0.997	B;D	0.79108	0.197;0.992	T	0.82585	-0.0384	10	0.44086	T	0.13	.	19.8813	0.96900	0.0:1.0:0.0:0.0	.	317;2850	A8KAQ8;O95714	.;HERC2_HUMAN	L	2850	ENSP00000261609:V2850L	ENSP00000261609:V2850L	V	-	1	0	HERC2	26109889	1.000000	0.71417	0.182000	0.23118	0.732000	0.41865	7.776000	0.85560	2.770000	0.95276	0.643000	0.83706	GTA		0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28436294	C	A	28436294	3	1	146	1	0	0	0	0	1	0	0	0	7060	478	17	4	6116	4	HERC2	15	28436294	Missense_Mutation	SNP	C	TCGA-B0-4818-01A-01D-1501-10		28436294	74095098	54	8696											
UBR1	197131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43360146	43360146	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr15:43360146C>T	ENST00000290650.4	-	6	826	c.748G>A	c.(748-750)Gac>Aac	p.D250N	UBR1_ENST00000382177.2_Missense_Mutation_p.D250N	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	250					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D250N(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGCTCACAGTCAAGAGCTCTT	0.423																																																1	Substitution - Missense(1)	kidney(1)											121	112	115					15																	43360146		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.748G>A	15.37:g.43360146C>T	ENSP00000290650:p.Asp250Asn		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	8.571	0.880036	0.17467	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.69926	0.39;-0.44	5.73	4.62	0.57501	Adaptor protein ClpS, core (1);Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like (2);	0.268407	0.43260	D	0.000592	T	0.36468	0.0968	N	0.01729	-0.75	0.30055	N	0.811435	B;B	0.12013	0.002;0.005	B;B	0.11329	0.006;0.004	T	0.08743	-1.0707	10	0.05351	T	0.99	-4.8412	15.6135	0.76748	0.0:0.9232:0.0:0.0768	.	250;250	B4DYL2;Q8IWV7	.;UBR1_HUMAN	N	250	ENSP00000290650:D250N;ENSP00000371612:D250N	ENSP00000290650:D250N	D	-	1	0	UBR1	41147438	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.882000	0.48546	2.688000	0.91661	0.650000	0.86243	GAC		0.423	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		T	43360146	C	T	43360146	3	4	146	1	0	0	0	0	1	0	0	0	16906	826	29	2	4669	2	UBR1	15	43360146	Missense_Mutation	SNP	C	TCGA-B0-4818-01A-01D-1501-10	14923852	43360146	59171246	55	8697											
CELF6	60677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72579669	72579669	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr15:72579669T>A	ENST00000569547.1	-	12	1454	c.1383A>T	c.(1381-1383)caA>caT	p.Q461H	CELF6_ENST00000569311.1_5'Flank|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Missense_Mutation_p.Q348H|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.Q434H|CELF6_ENST00000539635.1_Missense_Mutation_p.Q322H|CELF6_ENST00000287202.5_Missense_Mutation_p.Q461H|CELF6_ENST00000543764.2_Missense_Mutation_p.Q324H			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	461	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q461H(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TCATGCCAATTTGAAAGCCAT	0.522																																																1	Substitution - Missense(1)	kidney(1)											125	117	120					15																	72579669		2199	4297	6496	SO:0001583	missense	60677			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.1383A>T	15.37:g.72579669T>A	ENSP00000454749:p.Gln461His		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	37	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356533	0.61293	.	.	ENSG00000140488	ENST00000287202;ENST00000437872;ENST00000543764;ENST00000379915;ENST00000395258;ENST00000539635	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.79	-4.49	0.03504	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000006	T	0.28599	0.0708	L	0.37850	1.14	0.48901	D	0.999725	D;D;B;B;D	0.76494	0.999;0.971;0.049;0.012;0.993	D;D;B;B;D	0.87578	0.998;0.99;0.165;0.146;0.997	T	0.01993	-1.1233	10	0.87932	D	0	-7.5353	18.2163	0.89886	0.0:0.8302:0.0:0.1698	.	434;324;348;322;461	B4DJB6;B4DG28;Q96J87-2;B3KWE6;Q96J87	.;.;.;.;CELF6_HUMAN	H	461;434;324;285;348;322	ENSP00000287202:Q461H;ENSP00000439956:Q324H;ENSP00000378677:Q348H;ENSP00000443162:Q322H	ENSP00000287202:Q461H	Q	-	3	2	CELF6	70366723	1.000000	0.71417	0.969000	0.41365	0.954000	0.61252	0.767000	0.26575	-0.726000	0.04895	0.459000	0.35465	CAA		0.522	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		A	72579669	T	A	72579669	3	1	146	1	0	0	0	0	1	0	0	0	3222	1838	64	5	66	5	CELF6	15	72579669	Missense_Mutation	SNP	T	TCGA-B0-4818-01A-01D-1501-10	29219523	72579669	29951723	56	8698											
KLHL25	64410	broad.mit.edu	37	15	86312584	86312584	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr15:86312584A>G	ENST00000337975.5	-	2	732	c.458T>C	c.(457-459)aTg>aCg	p.M153T	KLHL25_ENST00000536947.1_Missense_Mutation_p.M153T|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	153	BACK.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.M153T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CGAGAGCAGCATCATGCCCAG	0.617																																																1	Substitution - Missense(1)	kidney(1)											84	82	82					15																	86312584		2202	4299	6501	SO:0001583	missense	64410				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.458T>C	15.37:g.86312584A>G	ENSP00000336800:p.Met153Thr		B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.099770	0.37048	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.68624	-0.34;-0.34	4.85	4.85	0.62838	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	M	0.84773	2.715	0.51012	D	0.999905	B	0.20368	0.044	B	0.43360	0.417	T	0.80360	-0.1415	10	0.72032	D	0.01	.	13.6216	0.62140	1.0:0.0:0.0:0.0	.	153	Q9H0H3	ENC2_HUMAN	T	153;122;153	ENSP00000336800:M153T;ENSP00000444739:M153T	ENSP00000336800:M153T	M	-	2	0	KLHL25	84113588	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	1.824000	0.53156	0.379000	0.24179	ATG		0.617	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		G	86312584	A	G	86312584	3	3	146	1	0	0	0	0	1	0	0	0	8382	217	8	3	1315	3	KLHL25	15	86312584	Missense_Mutation	SNP	A	TCGA-B0-4818-01A-01D-1501-10	13732915	86312584	16218808	57	8699											
ACSM3	6296	hgsc.bcm.edu;ucsc.edu	37	16	20803368	20803369	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr16:20803368_20803369insAA	ENST00000289416.5	+	11	1846_1847	c.1371_1372insAA	c.(1372-1374)atcfs	p.I458fs	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Frame_Shift_Ins_p.I450fs|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	458					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GCAATTTCTATATCACTGGGGA	0.371																																																0																																										SO:0001589	frameshift_variant	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	Exception_encountered	16.37:g.20803368_20803369insAA	ENSP00000289416:p.Ile458fs		O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Frame_Shift_Ins	INS	ENST00000289416.5	37	CCDS10589.1																																																																																				0.371	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		AA	20803369	-	AA	20803368	7	5	146	1	0	1	1	0	0	0	0	0	185	1413	49	0	1502	0	ACSM3	16	20803368	Frame_Shift_Ins	INS	-	TCGA-B0-4818-01A-01D-1501-10		20803368	69551385	58	8700											
SRCAP	10847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30747584	30747584	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr16:30747584G>T	ENST00000262518.4	+	32	7178	c.6793G>T	c.(6793-6795)Gtg>Ttg	p.V2265L	SRCAP_ENST00000344771.4_Missense_Mutation_p.V2107L|SRCAP_ENST00000395059.2_Missense_Mutation_p.V2203L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2265	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.V2265L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCTGAACAGGTGGCTGAGCT	0.542																																																1	Substitution - Missense(1)	kidney(1)											81	78	79					16																	30747584		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6793G>T	16.37:g.30747584G>T	ENSP00000262518:p.Val2265Leu		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544840	0.65198	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91464	-2.83;-2.85;-2.84	5.23	5.23	0.72850	.	0.298348	0.24037	N	0.042131	D	0.93259	0.7852	L	0.46157	1.445	0.44871	D	0.997886	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.987	D	0.91352	0.5105	10	0.29301	T	0.29	-11.6222	17.7328	0.88383	0.0:0.0:1.0:0.0	.	2203;2265	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	2265;2203;2107	ENSP00000262518:V2265L;ENSP00000378499:V2203L;ENSP00000343042:V2107L	ENSP00000262518:V2265L	V	+	1	0	SRCAP	30655085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.118000	0.94355	2.714000	0.92807	0.563000	0.77884	GTG		0.542	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30747584	G	T	30747584	3	4	146	1	0	0	0	0	1	0	0	0	15140	1261	44	4	6911	4	SRCAP	16	30747584	Missense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10	9944216	30747584	59607169	59	8701											
GPT2	84706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	46950590	46950590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr16:46950590G>T	ENST00000340124.4	+	7	983	c.871G>T	c.(871-873)Gaa>Taa	p.E291*	GPT2_ENST00000440783.2_Nonsense_Mutation_p.E191*	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	291					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.E291*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CTTTGCCTGGGAAGAGAAGCT	0.473																																																1	Substitution - Nonsense(1)	kidney(1)											261	255	257					16																	46950590		2203	4300	6503	SO:0001587	stop_gained	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.871G>T	16.37:g.46950590G>T	ENSP00000345282:p.Glu291*		Q8N9E2	Nonsense_Mutation	SNP	ENST00000340124.4	37	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	G	38	6.705586	0.97776	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	.	.	.	5.31	5.31	0.75309	.	0.124745	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	.	.	.	X	291;191	.	ENSP00000345282:E291X	E	+	1	0	GPT2	45508091	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.584000	0.53936	2.629000	0.89072	0.650000	0.86243	GAA		0.473	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			T	46950590	G	T	46950590	4	4	146	1	0	0	0	0	0	1	0	0	6740	1175	41	4	893	4	GPT2	16	46950590	Nonsense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10	16203006	46950590	43404163	60	8702											
CEP76	79959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	12697299	12697299	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr18:12697299G>A	ENST00000262127.2	-	5	854	c.629C>T	c.(628-630)tCa>tTa	p.S210L	CEP76_ENST00000423709.2_Missense_Mutation_p.S135L|CEP76_ENST00000586887.1_5'Flank|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	210					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.S210L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGAAAATATGATGCTACTAA	0.378																																																1	Substitution - Missense(1)	kidney(1)											158	126	137					18																	12697299		2203	4300	6503	SO:0001583	missense	79959			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.629C>T	18.37:g.12697299G>A	ENSP00000262127:p.Ser210Leu		B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433912	0.96150	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	D;T	0.81499	-1.5;-1.42	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	M	0.74881	2.28	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.975	P;P;P	0.62089	0.898;0.898;0.668	D	0.88316	0.2959	10	0.49607	T	0.09	-9.3721	19.8025	0.96515	0.0:0.0:1.0:0.0	.	135;210;32	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	L	210;135	ENSP00000262127:S210L;ENSP00000403074:S135L	ENSP00000262127:S210L	S	-	2	0	CEP76	12687299	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.775000	0.98995	2.762000	0.94881	0.467000	0.42956	TCA		0.378	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		A	12697299	G	A	12697299	3	1	146	1	0	0	0	0	1	0	0	0	3263	1294	45	2	1382	2	CEP76	18	12697299	Missense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10		12697299	65379949	61	8703											
SS18	6760	hgsc.bcm.edu;ucsc.edu	37	18	23632629	23632629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr18:23632629delT	ENST00000415083.2	-	5	621	c.566delA	c.(565-567)aacfs	p.N189fs	SS18_ENST00000545952.1_Frame_Shift_Del_p.N137fs|SS18_ENST00000269137.7_Frame_Shift_Del_p.N189fs|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000542743.1_Frame_Shift_Del_p.N137fs|SS18_ENST00000542420.2_Frame_Shift_Del_p.N166fs|SS18_ENST00000539849.1_Frame_Shift_Del_p.N107fs	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	189	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GGGACCATAGTTTCCCATTGG	0.433			T	"SSX1,  SSX2"	synovial sarcoma																																		Dom	yes		18	18q11.2	6760	"synovial sarcoma translocation, chromosome 18"		M	0													296	249	265					18																	23632629		2203	4300	6503	SO:0001589	frameshift_variant	6760			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.566delA	18.37:g.23632629delT	ENSP00000414516:p.Asn189fs		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Frame_Shift_Del	DEL	ENST00000415083.2	37	CCDS32807.1																																																																																				0.433	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			-	23632629	T	-	23632629	7	5	146	1	0	1	0	1	0	0	0	0	15180	1725	60	0	718	0	SS18	18	23632629	Frame_Shift_Del	DEL	T	TCGA-B0-4818-01A-01D-1501-10	10935330	23632629	54444619	62	8704											
ST8SIA3	51046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	55027490	55027490	+	Silent	SNP	T	T	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr18:55027490T>A	ENST00000324000.3	+	4	3159	c.1125T>A	c.(1123-1125)acT>acA	p.T375T		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	375					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.T375T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCAAGCTGACTCTGTCACACT	0.488																																																1	Substitution - coding silent(1)	kidney(1)											49	42	44					18																	55027490		2203	4300	6503	SO:0001819	synonymous_variant	51046			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.1125T>A	18.37:g.55027490T>A			A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	CCDS32834.1																																																																																				0.488	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		A	55027490	T	A	55027490	2	1	146	1	0	0	0	0	0	0	0	1	15238	1538	54	5		5	ST8SIA3	18	55027490	Silent	SNP	T	TCGA-B0-4818-01A-01D-1501-10	31394861	55027490	23049758	63	8705											
ZNF536	9745	broad.mit.edu	37	19	30935867	30935867	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr19:30935867delG	ENST00000355537.3	+	2	1545	c.1398delG	c.(1396-1398)ctgfs	p.L466fs		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	466					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGAAGCGCTGGGGAAGCTGC	0.647																																																0													35	38	37					19																	30935867		2203	4300	6503	SO:0001589	frameshift_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1398delG	19.37:g.30935867delG	ENSP00000347730:p.Leu466fs		A2RU18	Frame_Shift_Del	DEL	ENST00000355537.3	37	CCDS32984.1																																																																																				0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		-	30935867	G	-	30935867	7	5	146	1	0	1	0	1	0	0	0	0	17979	1335	47	0	1400	0	ZNF536	19	30935867	Frame_Shift_Del	DEL	G	TCGA-B0-4818-01A-01D-1501-10		30935867	28193116	64	8706											
C19orf46	163183	broad.mit.edu;ucsc.edu	37	19	36494533	36494533	+	Missense_Mutation	SNP	C	C	G	rs565733225		TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr19:36494533C>G	ENST00000324444.3	-	7	1124	c.1013G>C	c.(1012-1014)aGg>aCg	p.R338T	SYNE4_ENST00000340477.5_Missense_Mutation_p.R225T	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	338					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)		p.R338T(1)									CCCCTCCAGCCTCACATCCTG	0.507																																																1	Substitution - Missense(1)	kidney(1)											61	66	64					19																	36494533		1986	4161	6147	SO:0001583	missense	0			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"chromosome 19 open reading frame 46", "deafness, autosomal recessive 76"	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.1013G>C	19.37:g.36494533C>G	ENSP00000316130:p.Arg338Thr		A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	CCDS42553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.74|10.74	1.436681|1.436681	0.25900|0.25900	.|.	.|.	ENSG00000181392|ENSG00000181392	ENST00000490730|ENST00000340477;ENST00000324444	T|T;T	0.56611|0.30182	0.45|1.54;1.54	4.67|4.67	-0.563|-0.563	0.11778|0.11778	.|.	.|125.427000	.|0.00166	.|N	.|0.000000	T|T	0.18759|0.18759	0.0450|0.0450	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|B;B	0.02656|0.06786	0.0|0.001;0.0	B|B;B	0.01281|0.04013	0.0|0.001;0.001	T|T	0.22695|0.22695	-1.0209|-1.0209	9|10	0.37606|0.59425	T|D	0.19|0.04	-1.7271|-1.7271	0.2286|0.2286	0.00177|0.00177	0.3546:0.1958:0.241:0.2087|0.3546:0.1958:0.241:0.2087	.|.	278|225;338	D6RAE3|Q8N205-2;Q8N205	.|.;SYNE4_HUMAN	D|T	278|225;338	ENSP00000422716:E278D|ENSP00000343152:R225T;ENSP00000316130:R338T	ENSP00000422716:E278D|ENSP00000316130:R338T	E|R	-|-	3|2	2|0	C19orf46|C19orf46	41186373|41186373	0.026000|0.026000	0.19158|0.19158	0.004000|0.004000	0.12327|0.12327	0.000000|0.000000	0.00434|0.00434	-0.020000|-0.020000	0.12525|0.12525	-0.163000|-0.163000	0.10946|0.10946	-0.211000|-0.211000	0.12701|0.12701	GAG|AGG		0.507	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		G	36494533	C	G	36494533	3	3	146	1	0	0	0	0	1	0	0	0	1931	681	24	4	209	4	C19orf46	19	36494533	Missense_Mutation	SNP	C	TCGA-B0-4818-01A-01D-1501-10	5558666	36494533	22634450	65	8707											
TMEM145	284339	broad.mit.edu;ucsc.edu	37	19	42821063	42821063	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr19:42821063A>C	ENST00000301204.3	+	11	889	c.848A>C	c.(847-849)tAc>tCc	p.Y283S	TMEM145_ENST00000598766.1_Missense_Mutation_p.Y307S	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	283					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.Y283S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TTGTCTGTCTACATGACCCTG	0.657																																																1	Substitution - Missense(1)	kidney(1)											56	45	49					19																	42821063		2203	4300	6503	SO:0001583	missense	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.848A>C	19.37:g.42821063A>C	ENSP00000301204:p.Tyr283Ser			Missense_Mutation	SNP	ENST00000301204.3	37	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750389	0.49257	.	.	ENSG00000167619	ENST00000301204	T	0.42900	0.96	3.98	3.98	0.46160	Rhodopsin-like GPCR transmembrane domain (1);	0.191120	0.36591	N	0.002520	T	0.36386	0.0965	L	0.51422	1.61	0.58432	D	0.999997	B	0.17038	0.02	B	0.17433	0.018	T	0.19418	-1.0306	10	0.37606	T	0.19	-18.5865	11.1366	0.48378	1.0:0.0:0.0:0.0	.	283	Q8NBT3	TM145_HUMAN	S	283	ENSP00000301204:Y283S	ENSP00000301204:Y283S	Y	+	2	0	TMEM145	47512903	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.387000	0.79785	1.574000	0.49760	0.416000	0.27883	TAC		0.657	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		C	42821063	A	C	42821063	3	2	146	1	0	0	0	0	1	0	0	0	16064	391	14	5	890	5	TMEM145	19	42821063	Missense_Mutation	SNP	A	TCGA-B0-4818-01A-01D-1501-10	6326530	42821063	16307920	66	8708											
PROKR2	128674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	5294646	5294646	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr20:5294646C>A	ENST00000217270.3	-	1	369	c.370G>T	c.(370-372)Ggc>Tgc	p.G124C	PROKR2_ENST00000546004.1_Missense_Mutation_p.G124C	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	124					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.G124C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGCACGTGGCCATGCTCCCAG	0.597										HNSCC(71;0.22)																																						1	Substitution - Missense(1)	kidney(1)											129	96	107					20																	5294646		2203	4300	6503	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.370G>T	20.37:g.5294646C>A	ENSP00000217270:p.Gly124Cys		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605198	0.87157	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.51325	0.71;0.71	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.100986	0.64402	D	0.000002	T	0.76083	0.3938	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82536	-0.0408	10	0.87932	D	0	.	16.398	0.83630	0.0:1.0:0.0:0.0	.	124	Q8NFJ6	PKR2_HUMAN	C	124	ENSP00000440790:G124C;ENSP00000217270:G124C	ENSP00000217270:G124C	G	-	1	0	PROKR2	5242646	1.000000	0.71417	0.981000	0.43875	0.977000	0.68977	7.740000	0.84986	2.525000	0.85131	0.643000	0.83706	GGC		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		A	5294646	C	A	5294646	3	1	146	1	0	0	0	0	1	0	0	0	12558	594	21	4	791	4	PROKR2	20	5294646	Missense_Mutation	SNP	C	TCGA-B0-4818-01A-01D-1501-10		5294646	57730874	67	8709											
SLC5A3	6526	hgsc.bcm.edu;ucsc.edu	37	21	35468377	35468377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chr21:35468377delC	ENST00000381151.3	+	2	1392	c.880delC	c.(880-882)catfs	p.H294fs	SLC5A3_ENST00000608209.1_Frame_Shift_Del_p.H294fs|MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	294					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AAACATTGCTCATGCCAAAGG	0.473																																																0													100	99	100					21																	35468377		2203	4300	6503	SO:0001589	frameshift_variant	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.880delC	21.37:g.35468377delC	ENSP00000370543:p.His294fs		O43489	Frame_Shift_Del	DEL	ENST00000381151.3	37	CCDS33549.1																																																																																				0.473	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			-	35468377	C	-	35468377	7	5	146	1	0	1	0	1	0	0	0	0	14672	826	29	0	882	0	SLC5A3	21	35468377	Frame_Shift_Del	DEL	C	TCGA-B0-4818-01A-01D-1501-10		35468377	12661518	68	8710											
EFHC2	80258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	44108155	44108155	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chrX:44108155G>T	ENST00000420999.1	-	6	949	c.866C>A	c.(865-867)cCa>cAa	p.P289Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	289	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)	p.P289Q(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GACTCTAGGTGGGCAATTCTG	0.433																																																1	Substitution - Missense(1)	kidney(1)											59	52	54					X																	44108155		1869	4093	5962	SO:0001583	missense	80258			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.866C>A	X.37:g.44108155G>T	ENSP00000404232:p.Pro289Gln		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563531	0.65651	.	.	ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056	T;T	0.68765	-0.34;-0.35	5.74	5.74	0.90152	Uncharacterised domain DM10 (2);	0.066369	0.64402	D	0.000013	T	0.81226	0.4778	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80638	-0.1293	10	0.42905	T	0.14	-13.3283	17.3512	0.87324	0.0:0.0:1.0:0.0	.	289	Q5JST6	EFHC2_HUMAN	Q	289;317;93	ENSP00000333823:P289Q;ENSP00000404232:P317Q	ENSP00000333823:P289Q	P	-	2	0	EFHC2	43993099	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	4.921000	0.63397	2.415000	0.81967	0.600000	0.82982	CCA		0.433	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		T	44108155	G	T	44108155	3	4	146	1	0	0	0	0	1	0	0	0	4949	1348	47	4	1423	4	EFHC2	23	44108155	Missense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10		44108155	111162405	69	8711											
FAAH2	158584	hgsc.bcm.edu;ucsc.edu	37	X	57367784	57367784	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chrX:57367784G>A	ENST00000374900.4	+	5	823	c.703G>A	c.(703-705)Gct>Act	p.A235T		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	235						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TCGAATGCCTGCTTTCTTCAA	0.423										HNSCC(52;0.14)																																						0													221	201	208					X																	57367784		2203	4300	6503	SO:0001583	missense	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.703G>A	X.37:g.57367784G>A	ENSP00000364035:p.Ala235Thr		Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080399	0.55753	.	.	ENSG00000165591	ENST00000374900	D	0.83250	-1.7	2.21	2.21	0.28008	Amidase, conserved site (1);Amidase signature domain (2);	0.687784	0.13262	U	0.401206	D	0.92639	0.7661	H	0.95187	3.635	0.32964	D	0.521387	D	0.71674	0.998	D	0.80764	0.994	D	0.92126	0.5708	10	0.72032	D	0.01	.	9.611	0.39663	0.0:0.0:1.0:0.0	.	235	Q6GMR7	FAAH2_HUMAN	T	235	ENSP00000364035:A235T	ENSP00000364035:A235T	A	+	1	0	FAAH2	57384509	0.971000	0.33674	0.998000	0.56505	0.995000	0.86356	1.719000	0.38011	1.116000	0.41820	0.600000	0.82982	GCT		0.423	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		A	57367784	G	A	57367784	3	1	146	1	0	0	0	0	1	0	0	0	5356	1319	46	2	721	2	FAAH2	23	57367784	Missense_Mutation	SNP	G	TCGA-B0-4818-01A-01D-1501-10	13259629	57367784	97902776	70	8712											
UTP14A	10813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129045756	129045756	+	Silent	SNP	A	A	T			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chrX:129045756A>T	ENST00000394422.3	+	6	424	c.396A>T	c.(394-396)gtA>gtT	p.V132V	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000371042.3_5'Flank|UTP14A_ENST00000371051.5_Silent_p.V78V	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	132					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.V132V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						ACAGAGAAGTAGCATTCAATA	0.478																																																1	Substitution - coding silent(1)	kidney(1)											139	132	134					X																	129045756		2203	4300	6503	SO:0001819	synonymous_variant	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.396A>T	X.37:g.129045756A>T			A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	CCDS14615.1																																																																																				0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		T	129045756	A	T	129045756	2	4	146	1	0	0	0	0	0	0	0	1	17100	407	15	5		5	UTP14A	23	129045756	Silent	SNP	A	TCGA-B0-4818-01A-01D-1501-10	71677972	129045756	26224804	71	8713											
FGF13	2258	broad.mit.edu;ucsc.edu	37	X	137793084	137793084	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4818-01A-01D-1501-10	TCGA-B0-4818-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	213bf382-c2ca-45d4-95ae-329e6653620f	c7fb63a2-c509-4f88-bfcd-53adc064c740	g.chrX:137793084C>A	ENST00000315930.6	-	1	743	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F	FGF13_ENST00000305414.4_Intron|FGF13-AS1_ENST00000446383.1_RNA|FGF13_ENST00000370603.3_Intron|FGF13_ENST00000441825.2_Intron|FGF13-AS1_ENST00000438238.1_RNA|FGF13_ENST00000541469.1_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	28	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.V28F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGCTGACACACTTGCAG	0.587																																																1	Substitution - Missense(1)	kidney(1)											129	119	123					X																	137793084		2203	4300	6503	SO:0001583	missense	2258			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.82G>T	X.37:g.137793084C>A	ENSP00000322390:p.Val28Phe		B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552452	0.65311	.	.	ENSG00000129682	ENST00000315930	T	0.76839	-1.05	4.5	4.5	0.54988	.	.	.	.	.	T	0.60495	0.2273	N	0.08118	0	0.80722	D	1	B	0.20459	0.045	B	0.29663	0.105	T	0.56050	-0.8043	9	0.09843	T	0.71	.	15.7214	0.77713	0.0:1.0:0.0:0.0	.	28	Q92913	FGF13_HUMAN	F	28	ENSP00000322390:V28F	ENSP00000322390:V28F	V	-	1	0	FGF13	137620750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.536000	0.60636	1.986000	0.57962	0.529000	0.55759	GTC		0.587	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		A	137793084	C	A	137793084	3	1	146	1	0	0	0	0	1	0	0	0	5844	478	17	4	675	4	FGF13	23	137793084	Missense_Mutation	SNP	C	TCGA-B0-4818-01A-01D-1501-10	8747328	137793084	17477476	72	8714											
KIF1B	23095	hgsc.bcm.edu;ucsc.edu	37	1	10397234	10397234	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr1:10397234G>A	ENST00000377086.1	+	30	3434	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E1032K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1078K			O60333	KIF1B_HUMAN	kinesin family member 1B	1078					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACTCCTCCAGAAGAAATCAG	0.438																																																0													178	174	175					1																	10397234		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3232G>A	1.37:g.10397234G>A	ENSP00000366290:p.Glu1078Lys		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.961745	0.74016	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.73258	-0.73;-0.73;-0.73	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	L	0.39245	1.2	0.58432	D	0.999997	P;B;P;P;B;D	0.56035	0.615;0.304;0.862;0.773;0.276;0.974	B;B;B;B;B;D	0.70487	0.2;0.072;0.278;0.41;0.121;0.969	T	0.74297	-0.3711	10	0.35671	T	0.21	.	14.5329	0.67939	0.0713:0.0:0.9286:0.0	.	1064;1038;1078;1052;1078;1032	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	K	1078;1032;1078;1078	ENSP00000263934:E1032K;ENSP00000366290:E1078K;ENSP00000366284:E1078K	ENSP00000263934:E1032K	E	+	1	0	KIF1B	10319821	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.447000	0.97595	2.824000	0.97209	0.655000	0.94253	GAA		0.438	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			A	10397234	G	A	10397234	3	1	147	1	0	0	0	0	1	0	0	0	8286	943	33	2	4689	2	KIF1B	1	10397234	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10		10397234	238853387	1	8715											
PRAMEF12	390999	hgsc.bcm.edu	37	1	12835193	12835193	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr1:12835193C>A	ENST00000357726.4	+	1	210	c.183C>A	c.(181-183)ttC>ttA	p.F61L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	61					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)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGCCCTTCACCTGCCTTC	0.572																																																0													79	83	82					1																	12835193		2203	4300	6503	SO:0001583	missense	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.183C>A	1.37:g.12835193C>A	ENSP00000350358:p.Phe61Leu			Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	15.98	2.993596	0.54041	.	.	ENSG00000116726	ENST00000357726	T	0.13089	2.62	2.68	-2.52	0.06346	.	0.361997	0.27181	N	0.020555	T	0.31104	0.0786	M	0.83312	2.635	0.18873	N	0.999983	D	0.76494	0.999	D	0.80764	0.994	T	0.05131	-1.0904	10	0.49607	T	0.09	.	7.8437	0.29414	0.0:0.4529:0.0:0.5471	.	61	O95522	PRA12_HUMAN	L	61	ENSP00000350358:F61L	ENSP00000350358:F61L	F	+	3	2	PRAMEF12	12757780	0.000000	0.05858	0.036000	0.18154	0.329000	0.28539	-2.353000	0.01090	-0.579000	0.05952	0.195000	0.17529	TTC		0.572	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		A	12835193	C	A	12835193	3	1	147	1	0	0	0	0	1	0	0	0	12433	825	29	4	185	4	PRAMEF12	1	12835193	Missense_Mutation	SNP	C	TCGA-B0-4819-01A-01D-1361-10	2437959	12835193	236415428	2	8716											
SFRS4	6429	hgsc.bcm.edu	37	1	29475160	29475160	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr1:29475160T>A	ENST00000373795.4	-	6	1481	c.1247A>T	c.(1246-1248)gAa>gTa	p.E416V	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'Flank|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	416	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CTTGGCATGTTCCCGCTCCTT	0.562																																																0													198	206	204					1																	29475160		2203	4300	6503	SO:0001583	missense	6429			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	protein-coding gene	gene with protein product	"SR splicing factor 4"	601940	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1247A>T	1.37:g.29475160T>A	ENSP00000362900:p.Glu416Val		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	CCDS333.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700063	0.48307	.	.	ENSG00000116350	ENST00000373795	T	0.13420	2.59	5.72	5.72	0.89469	.	1.240360	0.05072	N	0.481937	T	0.31606	0.0802	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	P	0.56278	0.795	T	0.00161	-1.1972	10	0.72032	D	0.01	.	15.2015	0.73142	0.0:0.0:0.0:1.0	.	416	Q08170	SRSF4_HUMAN	V	416	ENSP00000362900:E416V	ENSP00000362900:E416V	E	-	2	0	SRSF4	29347747	1.000000	0.71417	0.400000	0.26346	0.747000	0.42532	7.318000	0.79029	2.174000	0.68829	0.533000	0.62120	GAA		0.562	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		A	29475160	T	A	29475160	3	1	147	1	0	0	0	0	1	0	0	0	14185	1783	62	5	241	5	SFRS4	1	29475160	Missense_Mutation	SNP	T	TCGA-B0-4819-01A-01D-1361-10	16639967	29475160	219775461	3	8717											
FAM167B	84734	hgsc.bcm.edu	37	1	32713083	32713083	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr1:32713083G>A	ENST00000373582.3	+	1	250	c.61G>A	c.(61-63)Ggg>Agg	p.G21R		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	21								p.G21W(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						GGATGAGGAGGGGGAGAGCCT	0.617																																																1	Substitution - Missense(1)	ovary(1)											53	65	61					1																	32713083		2077	4204	6281	SO:0001583	missense	84734			BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 90"	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.61G>A	1.37:g.32713083G>A	ENSP00000362684:p.Gly21Arg		Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	11.94	1.787437	0.31593	.	.	ENSG00000183615	ENST00000373582	T	0.28454	1.61	5.02	2.11	0.27256	.	0.540328	0.15603	U	0.253791	T	0.14485	0.0350	N	0.08118	0	0.23168	N	0.998182	B	0.02656	0.0	B	0.01281	0.0	T	0.23261	-1.0193	10	0.31617	T	0.26	.	8.08	0.30739	0.1464:0.1312:0.7224:0.0	.	21	Q9BTA0	F167B_HUMAN	R	21	ENSP00000362684:G21R	ENSP00000362684:G21R	G	+	1	0	FAM167B	32485670	1.000000	0.71417	0.262000	0.24481	0.875000	0.50365	4.347000	0.59373	0.254000	0.21573	-0.136000	0.14681	GGG		0.617	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		A	32713083	G	A	32713083	3	1	147	1	0	0	0	0	1	0	0	0	5486	1232	43	2	63	2	FAM167B	1	32713083	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10	3237923	32713083	216537538	4	8718											
MACF1	23499	hgsc.bcm.edu	37	1	39900149	39900149	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr1:39900149G>A	ENST00000372915.3	+	67	17404	c.17317G>A	c.(17317-17319)Gcc>Acc	p.A5773T	MACF1_ENST00000545844.1_Missense_Mutation_p.A3815T|MACF1_ENST00000564288.1_Missense_Mutation_p.A5877T|MACF1_ENST00000317713.7_Missense_Mutation_p.A3815T|MACF1_ENST00000567887.1_Missense_Mutation_p.A5914T|MACF1_ENST00000361689.2_Missense_Mutation_p.A3815T|MACF1_ENST00000289893.4_Missense_Mutation_p.A4317T|MACF1_ENST00000539005.1_Missense_Mutation_p.A3685T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5773					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGCGTTATGCCCGCCTAGA	0.423																																																0													56	61	59					1																	39900149		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17317G>A	1.37:g.39900149G>A	ENSP00000362006:p.Ala5773Thr		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.883291|1.883291	0.33255|0.33255	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52057|.	0.68;1.34;0.68;0.68;0.68;0.68|.	6.03|6.03	5.09|5.09	0.68999|0.68999	.|.	0.092722|.	0.47093|.	N|.	0.000247|.	T|T	0.68072|0.68072	0.2961|0.2961	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;B;B|.	0.18610|.	0.02;0.029;0.002|.	B;B;B|.	0.20577|.	0.027;0.03;0.008|.	T|T	0.66404|0.66404	-0.5932|-0.5932	10|5	0.25106|.	T|.	0.35|.	.|.	14.4743|14.4743	0.67537|0.67537	0.0725:0.0:0.9275:0.0|0.0725:0.0:0.9275:0.0	.|.	5773;3815;3759|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	T|Y	3815;5773;3815;3815;3685;4317|2818	ENSP00000439537:A3815T;ENSP00000362006:A5773T;ENSP00000354573:A3815T;ENSP00000313438:A3815T;ENSP00000444364:A3685T;ENSP00000289893:A4317T|.	ENSP00000289893:A4317T|.	A|C	+|+	1|2	0|0	MACF1|MACF1	39672736|39672736	0.249000|0.249000	0.23941|0.23941	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.794000|1.794000	0.38774|0.38774	1.492000|1.492000	0.48499|0.48499	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39900149	G	A	39900149	3	1	147	1	0	0	0	0	1	0	0	0	9146	1319	46	2	17848	2	MACF1	1	39900149	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10	7187066	39900149	209350472	5	8719											
TRIM45	80263	hgsc.bcm.edu	37	1	117660996	117660996	+	Silent	SNP	C	C	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr1:117660996C>T	ENST00000256649.4	-	2	1408	c.882G>A	c.(880-882)aaG>aaA	p.K294K	TRIM45_ENST00000369461.3_Silent_p.K237K|TRIM45_ENST00000369464.3_Silent_p.K294K	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	294					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GCTTCAGCAGCTTGTCCCGAT	0.557																																																0													78	76	77					1																	117660996		2203	4300	6503	SO:0001819	synonymous_variant	80263				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.882G>A	1.37:g.117660996C>T			Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Silent	SNP	ENST00000256649.4	37	CCDS893.1																																																																																				0.557	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		T	117660996	C	T	117660996	2	4	147	1	0	0	0	0	0	0	0	1	16525	796	28	2		2	TRIM45	1	117660996	Silent	SNP	C	TCGA-B0-4819-01A-01D-1361-10	77760847	117660996	131589625	6	8720											
FAM78B	149297	hgsc.bcm.edu	37	1	166135418	166135418	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr1:166135418A>G	ENST00000338353.3	-	2	657	c.68T>C	c.(67-69)gTg>gCg	p.V23A	FAM78B_ENST00000354422.3_Missense_Mutation_p.V23A|RP11-9L18.3_ENST00000451784.1_RNA			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	23										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GGTGGCGCACACATCGTACAC	0.667																																																0													77	53	61					1																	166135418		2202	4299	6501	SO:0001583	missense	149297			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.68T>C	1.37:g.166135418A>G	ENSP00000339681:p.Val23Ala		B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153412	0.57259	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	4.29	4.29	0.51040	.	0.066607	0.64402	D	0.000014	T	0.39358	0.1075	L	0.59436	1.845	0.41782	D	0.989828	B	0.25809	0.135	B	0.27796	0.083	T	0.51725	-0.8669	8	0.72032	D	0.01	-3.0919	11.4309	0.50041	1.0:0.0:0.0:0.0	.	23	Q5VT40	FA78B_HUMAN	A	23	.	ENSP00000339681:V23A	V	-	2	0	FAM78B	164402042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.491000	0.90468	1.789000	0.52484	0.383000	0.25322	GTG		0.667	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		G	166135418	A	G	166135418	3	3	147	1	0	0	0	0	1	0	0	0	5629	159	6	3	725	3	FAM78B	1	166135418	Missense_Mutation	SNP	A	TCGA-B0-4819-01A-01D-1361-10	48474422	166135418	83115203	7	8721											
CLK1	1195	hgsc.bcm.edu	37	2	201718657	201718657	+	Missense_Mutation	SNP	C	C	G	rs200718703		TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr2:201718657C>G	ENST00000321356.4	-	12	1415	c.1280G>C	c.(1279-1281)aGa>aCa	p.R427T	CLK1_ENST00000434813.2_Missense_Mutation_p.R469T|CLK1_ENST00000409769.2_Missense_Mutation_p.R250T	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	427	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGAAACATATCTGCCGGCAGA	0.383																																																0													122	117	119					2																	201718657		2203	4300	6503	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1280G>C	2.37:g.201718657C>G	ENSP00000326830:p.Arg427Thr		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181797	0.57800	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.20069	2.1;2.1;2.1	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	L	0.45285	1.41	0.53688	D	0.999974	D;D;D;D	0.55385	0.971;0.971;0.971;0.968	D;D;D;P	0.68765	0.96;0.96;0.96;0.811	T	0.09773	-1.0659	10	0.87932	D	0	.	16.2271	0.82306	0.0:0.8672:0.1328:0.0	.	469;397;427;250	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	T	427;397;250;469	ENSP00000326830:R427T;ENSP00000386358:R250T;ENSP00000394734:R469T	ENSP00000326830:R427T	R	-	2	0	CLK1	201426902	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	4.049000	0.57397	2.619000	0.88677	0.462000	0.41574	AGA		0.383	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			G	201718657	C	G	201718657	3	3	147	1	0	0	0	0	1	0	0	0	3538	913	32	4	182	4	CLK1	2	201718657	Missense_Mutation	SNP	C	TCGA-B0-4819-01A-01D-1361-10		201718657	41480716	8	8722											
PLEKHM3	389072	hgsc.bcm.edu	37	2	208795801	208795801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr2:208795801C>A	ENST00000427836.2	-	5	2224	c.1735G>T	c.(1735-1737)Gag>Tag	p.E579*	PLEKHM3_ENST00000457206.1_Nonsense_Mutation_p.E579*|PLEKHM3_ENST00000389247.4_Nonsense_Mutation_p.E579*	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	579					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGAGCGGCTCTTCGTACACG	0.617																																																0													77	82	80					2																	208795801		2046	4213	6259	SO:0001587	stop_gained	389072			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1735G>T	2.37:g.208795801C>A	ENSP00000417003:p.Glu579*		B9EKV2|Q8WW68	Nonsense_Mutation	SNP	ENST00000427836.2	37	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.434148|10.434148	0.99404|0.99404	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80082	.|0.4558	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77718	.|-0.2483	.|3	0.42905|.	T|.	0.14|.	.|.	20.0292|20.0292	0.97532|0.97532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	579|330	.|.	ENSP00000373899:E579X|.	E|R	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208504046|208504046	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.765000|0.765000	0.43378|0.43378	7.773000|7.773000	0.85462|0.85462	2.740000|2.740000	0.93945|0.93945	0.460000|0.460000	0.39030|0.39030	GAG|AGA		0.617	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		A	208795801	C	A	208795801	4	1	147	1	0	0	0	0	0	1	0	0	12084	922	32	4	566	4	PLEKHM3	2	208795801	Nonsense_Mutation	SNP	C	TCGA-B0-4819-01A-01D-1361-10	7077144	208795801	34403572	9	8723											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191470	10191470	+	Splice_Site	SNP	G	G	A	rs5030817		TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr3:10191470G>A	ENST00000256474.2	+	3	1303		c.e3-1		VHL_ENST00000345392.2_Splice_Site|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(23)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCCCTTCCAGTGTATACTCT	0.493		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	23	Unknown(23)	kidney(21)|soft_tissue(2)	GRCh37	CS071276|CS941547|CS961706	VHL	S	rs5030817						88	80	83					3																	10191470		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.464-1G>A	3.37:g.10191470G>A			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983329	0.35036	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2774	0.73753	0.0:0.0:1.0:0.0	rs5030817	.	.	.	.	-1	.	.	.	+	.	.	VHL	10166470	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	7.062000	0.76706	2.535000	0.85469	0.655000	0.94253	.		0.493	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	A	10191470	G	A	10191470	5	1	147	1	0	0	0	0	0	0	1	0	17167	1043	36	2	473	2	VHL	3	10191470	Splice_Site	SNP	G	TCGA-B0-4819-01A-01D-1361-10		10191470	187830960	10	8724											
SCN10A	6336	hgsc.bcm.edu;ucsc.edu	37	3	38798643	38798643	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr3:38798643G>A	ENST00000449082.2	-	8	957	c.958C>T	c.(958-960)Cct>Tct	p.P320S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	320					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TAACCATCAGGGCAGTGGCTG	0.483																																																0													89	92	91					3																	38798643		2203	4300	6503	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.958C>T	3.37:g.38798643G>A	ENSP00000390600:p.Pro320Ser		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477336	0.84640	.	.	ENSG00000185313	ENST00000449082	D	0.97303	-4.33	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	M	0.82193	2.58	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.99379	1.0922	10	0.87932	D	0	.	18.7053	0.91635	0.0:0.0:1.0:0.0	.	320	Q9Y5Y9	SCNAA_HUMAN	S	320	ENSP00000390600:P320S	ENSP00000390600:P320S	P	-	1	0	SCN10A	38773647	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	7.816000	0.86201	2.728000	0.93425	0.655000	0.94253	CCT		0.483	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38798643	G	A	38798643	3	1	147	1	0	0	0	0	1	0	0	0	13918	1232	43	2	4992	2	SCN10A	3	38798643	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10	28607173	38798643	159223787	11	8725											
DHX30	22907	hgsc.bcm.edu;ucsc.edu	37	3	47891146	47891146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr3:47891146G>A	ENST00000445061.1	+	21	3625	c.3218G>A	c.(3217-3219)tGg>tAg	p.W1073*	DHX30_ENST00000348968.4_Nonsense_Mutation_p.W1045*|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Nonsense_Mutation_p.W1101*|DHX30_ENST00000446256.2_Nonsense_Mutation_p.W1034*	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1073						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGGAGCCGATGGCTGACGTAT	0.627																																																0													85	77	80					3																	47891146		2203	4300	6503	SO:0001587	stop_gained	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3218G>A	3.37:g.47891146G>A	ENSP00000405620:p.Trp1073*		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Nonsense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	43	9.887651	0.99288	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3489	0.87317	0.0:0.0:1.0:0.0	.	.	.	.	X	1034;1073;1045;1101	.	ENSP00000343442:W1045X	W	+	2	0	DHX30	47866150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.353000	0.73032	2.315000	0.78130	0.561000	0.74099	TGG		0.627	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		A	47891146	G	A	47891146	4	1	147	1	0	0	0	0	0	1	0	0	4506	1357	47	2	3303	2	DHX30	3	47891146	Nonsense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10	9092503	47891146	150131284	12	8726											
SST	6750	hgsc.bcm.edu	37	3	187388007	187388007	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr3:187388007C>T	ENST00000287641.3	-	1	180	c.73G>A	c.(73-75)Gct>Act	p.A25T		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	25					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)	p.A25T(1)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	TCCGAGGGAGCGCCGGTGACA	0.677																																																1	Substitution - Missense(1)	pancreas(1)											22	22	22					3																	187388007		2200	4296	6496	SO:0001583	missense	6750				CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"Endogenous ligands"	11329	protein-coding gene	gene with protein product	"somatostatin-14", "somatostatin-28", "prepro-somatostatin"	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.73G>A	3.37:g.187388007C>T	ENSP00000287641:p.Ala25Thr		B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636072	0.67130	.	.	ENSG00000157005	ENST00000287641	T	0.34275	1.37	5.48	5.48	0.80851	.	0.210763	0.47852	D	0.000207	T	0.39091	0.1065	M	0.78049	2.395	0.54753	D	0.999982	P	0.36874	0.572	B	0.21546	0.035	T	0.46555	-0.9183	10	0.54805	T	0.06	-3.1289	17.9406	0.89025	0.0:1.0:0.0:0.0	.	25	P61278	SMS_HUMAN	T	25	ENSP00000287641:A25T	ENSP00000287641:A25T	A	-	1	0	SST	188870701	1.000000	0.71417	0.982000	0.44146	0.853000	0.48598	6.073000	0.71245	2.560000	0.86352	0.563000	0.77884	GCT		0.677	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		T	187388007	C	T	187388007	3	4	147	1	0	0	0	0	1	0	0	0	15201	768	27	1	285	1	SST	3	187388007	Missense_Mutation	SNP	C	TCGA-B0-4819-01A-01D-1361-10	139496861	187388007	10634423	13	8727											
GRXCR1	389207	hgsc.bcm.edu;ucsc.edu	37	4	42895568	42895568	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr4:42895568A>T	ENST00000399770.2	+	1	285	c.285A>T	c.(283-285)agA>agT	p.R95S	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	95					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTGGTACAAGAAGAGTCAACA	0.438																																																0													126	130	129					4																	42895568		1986	4176	6162	SO:0001583	missense	389207				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.285A>T	4.37:g.42895568A>T	ENSP00000382670:p.Arg95Ser			Missense_Mutation	SNP	ENST00000399770.2	37	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057189	0.36277	.	.	ENSG00000215203	ENST00000399770	T	0.36157	1.27	5.87	0.422	0.16457	.	0.068097	0.56097	U	0.000032	T	0.20740	0.0499	L	0.36672	1.1	0.31906	N	0.615355	B	0.19331	0.035	B	0.19946	0.027	T	0.19321	-1.0309	10	0.14252	T	0.57	-0.9729	4.9052	0.13795	0.5583:0.0:0.3097:0.132	.	95	A8MXD5	GRCR1_HUMAN	S	95	ENSP00000382670:R95S	ENSP00000382670:R95S	R	+	3	2	GRXCR1	42590325	1.000000	0.71417	0.981000	0.43875	0.611000	0.37282	2.158000	0.42329	0.140000	0.18849	-0.297000	0.09499	AGA		0.438	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		T	42895568	A	T	42895568	3	4	147	1	0	0	0	0	1	0	0	0	6814	243	9	5	287	5	GRXCR1	4	42895568	Missense_Mutation	SNP	A	TCGA-B0-4819-01A-01D-1361-10		42895568	148258708	14	8728											
GALNT7	51809	hgsc.bcm.edu	37	4	174223217	174223217	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr4:174223217G>C	ENST00000265000.4	+	7	1251	c.1168G>C	c.(1168-1170)Gga>Cga	p.G390R		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	390	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G390R(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CATGGCTGGGGGATTATTTGC	0.438																																																1	Substitution - Missense(1)	central_nervous_system(1)											222	228	226					4																	174223217		2203	4300	6503	SO:0001583	missense	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1168G>C	4.37:g.174223217G>C	ENSP00000265000:p.Gly390Arg		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081035	0.94050	.	.	ENSG00000109586	ENST00000265000;ENST00000458613	D	0.90844	-2.74	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97483	1.0048	10	0.87932	D	0	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	167;390	B4DIB4;Q86SF2	.;GALT7_HUMAN	R	390;167	ENSP00000265000:G390R	ENSP00000265000:G390R	G	+	1	0	GALNT7	174459792	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	9.869000	0.99810	2.828000	0.97474	0.655000	0.94253	GGA		0.438	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		C	174223217	G	C	174223217	3	2	147	1	0	0	0	0	1	0	0	0	6220	1233	43	4	1194	4	GALNT7	4	174223217	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10	131327649	174223217	16931059	15	8729											
RAPGEF6	51735	hgsc.bcm.edu;ucsc.edu	37	5	130788816	130788816	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr5:130788816G>T	ENST00000509018.1	-	21	3336	c.3131C>A	c.(3130-3132)tCc>tAc	p.S1044Y	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1044Y|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.S759Y|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S1044Y|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1049Y|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1094Y|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1044Y	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1044	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GATTTCCTTGGAAATCATTCT	0.328																																					Melanoma(168;435 1955 13113 13877 23213)											0													93	93	93					5																	130788816		2203	4300	6503	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3131C>A	5.37:g.130788816G>T	ENSP00000421684:p.Ser1044Tyr		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922019	0.73213	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61	4.94	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.107165	0.64402	D	0.000006	T	0.32406	0.0828	N	0.21240	0.645	0.80722	D	1	B;B;B;B;B;B;B	0.31949	0.236;0.0;0.325;0.035;0.236;0.348;0.129	B;B;B;B;B;B;B	0.42030	0.206;0.006;0.3;0.044;0.206;0.373;0.372	T	0.30650	-0.9971	10	0.87932	D	0	.	18.5281	0.90980	0.0:0.0:1.0:0.0	.	1044;1044;1044;759;1094;1049;1044	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	Y	1044;1049;1044;1044;1049;759;1044;1094	ENSP00000421684:S1044Y;ENSP00000309298:S1049Y;ENSP00000426081:S1044Y;ENSP00000296859:S1044Y;ENSP00000426910:S759Y;ENSP00000311419:S1044Y;ENSP00000426948:S1094Y	ENSP00000426948:S1094Y	S	-	2	0	RAPGEF6;FNIP1	130816715	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.832000	0.99423	2.460000	0.83146	0.467000	0.42956	TCC		0.328	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		T	130788816	G	T	130788816	3	4	147	1	0	0	0	0	1	0	0	0	13054	1174	41	4	2169	4	RAPGEF6	5	130788816	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10		130788816	50126444	16	8730											
ANKRD43	134548	hgsc.bcm.edu;ucsc.edu	37	5	132150878	132150878	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr5:132150878G>C	ENST00000378693.2	+	1	1846	c.1565G>C	c.(1564-1566)gGt>gCt	p.G522A	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	522																	ATCCGCGGTGGTCTGCCAGCC	0.572																																																0													33	39	37					5																	132150878		2203	4298	6501	SO:0001583	missense	0			AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1565G>C	5.37:g.132150878G>C	ENSP00000367965:p.Gly522Ala		Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273983	0.59649	.	.	ENSG00000198944	ENST00000378693	T	0.20332	2.08	6.15	-1.63	0.08345	.	1.479250	0.04456	N	0.373586	T	0.19485	0.0468	N	0.21448	0.665	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.40156	-0.9578	10	0.38643	T	0.18	-5.6533	19.2419	0.93887	0.0:0.6512:0.2535:0.0953	.	522	Q2M3V2	ANR43_HUMAN	A	522	ENSP00000367965:G522A	ENSP00000367965:G522A	G	+	2	0	ANKRD43	132178777	0.000000	0.05858	0.000000	0.03702	0.741000	0.42261	-0.001000	0.12947	-0.659000	0.05359	0.643000	0.83706	GGT		0.572	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		C	132150878	G	C	132150878	3	2	147	1	0	0	0	0	1	0	0	0	671	1261	44	4	1567	4	ANKRD43	5	132150878	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10	1362062	132150878	48764382	17	8731											
ARAP3	64411	hgsc.bcm.edu	37	5	141046056	141046056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr5:141046056G>T	ENST00000239440.4	-	17	2572	c.2507C>A	c.(2506-2508)tCa>tAa	p.S836*	ARAP3_ENST00000508305.1_Nonsense_Mutation_p.S738*|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Nonsense_Mutation_p.S498*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	836					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.S836*(2)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCCCGGCGCTGAGCACAGGAA	0.677																																																2	Substitution - Nonsense(2)	breast(2)											19	25	23					5																	141046056		2201	4292	6493	SO:0001587	stop_gained	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2507C>A	5.37:g.141046056G>T	ENSP00000239440:p.Ser836*		B4DIT1|D3DQE3	Nonsense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	40	8.500045	0.98838	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	.	.	.	5.53	5.53	0.82687	.	0.057711	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.0492	0.93036	0.0:0.0:1.0:0.0	.	.	.	.	X	738;836;498	.	ENSP00000239440:S836X	S	-	2	0	ARAP3	141026240	1.000000	0.71417	0.992000	0.48379	0.309000	0.27889	8.156000	0.89645	2.593000	0.87608	0.655000	0.94253	TCA		0.677	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		T	141046056	G	T	141046056	4	4	147	1	0	0	0	0	0	1	0	0	840	1294	45	4	2195	4	ARAP3	5	141046056	Nonsense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10	8895178	141046056	39869204	18	8732											
C5orf25	375484	hgsc.bcm.edu	37	5	175740819	175740819	+	Silent	SNP	T	T	G			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr5:175740819T>G	ENST00000443967.1	+	7	2210	c.1803T>G	c.(1801-1803)ctT>ctG	p.L601L	SIMC1_ENST00000341199.6_Silent_p.L186L|SIMC1_ENST00000332772.4_Silent_p.L62L|SIMC1_ENST00000430704.2_Silent_p.L186L			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	601							SUMO polymer binding (GO:0032184)										ACATGGTGCTTTCCTGTGACA	0.532																																																0													102	96	98					5																	175740819		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1803T>G	5.37:g.175740819T>G			J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37																																																																																					0.532	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		G	175740819	T	G	175740819	2	3	147	1	0	0	0	0	0	0	0	1	2290	1828	64	5		5	C5orf25	5	175740819	Silent	SNP	T	TCGA-B0-4819-01A-01D-1361-10	34694763	175740819	5174441	19	8733											
HLA-C	3107	hgsc.bcm.edu	37	6	31237786	31237786	+	Silent	SNP	A	A	T	rs41556617	byFrequency	TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr6:31237786A>T	ENST00000376228.5	-	5	986	c.972T>A	c.(970-972)ctT>ctA	p.L324L	HLA-C_ENST00000383329.3_Silent_p.L324L	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	330					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCACAGCTCCAAGGACAGCTA	0.577																																																0								T		3008,1352		1348,312,520	42	46	45		972	-4.9	0	6	dbSNP_127	45	4845,3673		1931,983,1345	no	coding-synonymous	HLA-C	NM_002117.5		3279,1295,1865	TT,TA,AA		43.1205,31.0092,39.02		324/367	31237786	7853,5025	2180	4259	6439	SO:0001819	synonymous_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.972T>A	6.37:g.31237786A>T			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1																																																																																				0.577	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31237786	A	T	31237786	2	4	147	1	0	0	0	0	0	0	0	1	7199	117	5	5		5	HLA-C	6	31237786	Silent	SNP	A	TCGA-B0-4819-01A-01D-1361-10		31237786	139877281	20	8734											
ZNF704	619279	hgsc.bcm.edu;ucsc.edu	37	8	81577134	81577134	+	Silent	SNP	G	G	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr8:81577134G>T	ENST00000327835.3	-	6	1074	c.843C>A	c.(841-843)gcC>gcA	p.A281A	ZNF704_ENST00000520336.1_5'Flank	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	281							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCTCCGTTTTGGCACAAGGAG	0.587																																																0													143	126	131					8																	81577134		2203	4300	6503	SO:0001819	synonymous_variant	619279			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.843C>A	8.37:g.81577134G>T			B2RNE6|B9EGW6	Silent	SNP	ENST00000327835.3	37	CCDS34913.1																																																																																				0.587	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		T	81577134	G	T	81577134	2	4	147	1	0	0	0	0	0	0	0	1	18112	1335	47	4		4	ZNF704	8	81577134	Silent	SNP	G	TCGA-B0-4819-01A-01D-1361-10		81577134	64786888	21	8735											
SPAG1	6674	hgsc.bcm.edu	37	8	101196265	101196265	+	Silent	SNP	A	A	G			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr8:101196265A>G	ENST00000388798.2	+	6	761	c.570A>G	c.(568-570)aaA>aaG	p.K190K	Y_RNA_ENST00000362797.1_RNA|SPAG1_ENST00000251809.3_Silent_p.K190K|SPAG1_ENST00000520643.1_Silent_p.K190K|SPAG1_ENST00000520508.1_Silent_p.K190K	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	190					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ACTTGTCTAAAATTGAGACAA	0.269																																																0													49	49	49					8																	101196265		2202	4290	6492	SO:0001819	synonymous_variant	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.570A>G	8.37:g.101196265A>G			A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Silent	SNP	ENST00000388798.2	37	CCDS34930.1																																																																																				0.269	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		G	101196265	A	G	101196265	2	3	147	1	0	0	0	0	0	0	0	1	14981	11	1	3		3	SPAG1	8	101196265	Silent	SNP	A	TCGA-B0-4819-01A-01D-1361-10	19619131	101196265	45167757	22	8736											
SEMA4D	10507	hgsc.bcm.edu	37	9	92017852	92017852	+	Silent	SNP	C	C	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr9:92017852C>T	ENST00000450295.1	-	4	962	c.186G>A	c.(184-186)ttG>ttA	p.L62L	SEMA4D_ENST00000339861.4_Silent_p.L62L|SEMA4D_ENST00000438547.2_Silent_p.L62L|SEMA4D_ENST00000420987.1_Silent_p.L62L|SEMA4D_ENST00000455551.2_Silent_p.L62L|SEMA4D_ENST00000356444.2_Silent_p.L62L|SEMA4D_ENST00000422704.2_Silent_p.L62L|SEMA4D_ENST00000343780.4_Silent_p.L62L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	62	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CACCTATGTACAAGGTGTCCT	0.577																																																0													123	96	105					9																	92017852		2203	4300	6503	SO:0001819	synonymous_variant	10507			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.186G>A	9.37:g.92017852C>T			B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	CCDS6685.1																																																																																				0.577	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		T	92017852	C	T	92017852	2	4	147	1	0	0	0	0	0	0	0	1	14040	477	17	2		2	SEMA4D	9	92017852	Silent	SNP	C	TCGA-B0-4819-01A-01D-1361-10		92017852	49195579	23	8737											
PTCH1	5727	hgsc.bcm.edu	37	9	98239880	98239880	+	Silent	SNP	T	T	C			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr9:98239880T>C	ENST00000331920.6	-	10	1751	c.1452A>G	c.(1450-1452)ggA>ggG	p.G484G	PTCH1_ENST00000437951.1_Silent_p.G418G|PTCH1_ENST00000418258.1_Silent_p.G333G|PTCH1_ENST00000429896.2_Silent_p.G333G|PTCH1_ENST00000375274.2_Silent_p.G483G|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000430669.2_Silent_p.G418G|PTCH1_ENST00000421141.1_Silent_p.G333G	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	484	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACAGGCCCAGTCCTGCAGCCA	0.572																																																0													52	54	53					9																	98239880		2203	4300	6503	SO:0001819	synonymous_variant	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1452A>G	9.37:g.98239880T>C			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				0.572	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		C	98239880	T	C	98239880	2	2	147	1	0	0	0	0	0	0	0	1	12735	1654	58	3		3	PTCH1	9	98239880	Silent	SNP	T	TCGA-B0-4819-01A-01D-1361-10	6222028	98239880	42973551	24	8738											
ALOX5	240	hgsc.bcm.edu	37	10	45935953	45935953	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr10:45935953A>T	ENST00000374391.2	+	8	1110	c.1057A>T	c.(1057-1059)Atc>Ttc	p.I353F	ALOX5_ENST00000542434.1_Missense_Mutation_p.I353F	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	353	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TTTGGCCAAAATCTGGGTGCG	0.502																																																0													98	85	90					10																	45935953		2203	4300	6503	SO:0001583	missense	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1057A>T	10.37:g.45935953A>T	ENSP00000363512:p.Ile353Phe		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311247	0.81358	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.77358	-1.09;-1.09	5.96	5.96	0.96718	Lipoxygenase, C-terminal (4);	0.204255	0.51477	D	0.000084	T	0.81211	0.4775	L	0.53617	1.68	0.80722	D	1	D;P;D	0.63046	0.992;0.849;0.988	P;P;P	0.59288	0.855;0.624;0.771	T	0.79969	-0.1579	10	0.35671	T	0.21	-39.8169	9.6476	0.39877	0.8446:0.0:0.0:0.1553	.	353;353;353	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	F	353	ENSP00000437634:I353F;ENSP00000363512:I353F	ENSP00000363512:I353F	I	+	1	0	ALOX5	45255959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.285000	0.76669	0.528000	0.53228	ATC		0.502	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			T	45935953	A	T	45935953	3	4	147	1	0	0	0	0	1	0	0	0	540	101	4	5	1087	5	ALOX5	10	45935953	Missense_Mutation	SNP	A	TCGA-B0-4819-01A-01D-1361-10		45935953	89598794	25	8739											
GLYAT	10249	hgsc.bcm.edu	37	11	58482866	58482866	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr11:58482866C>T	ENST00000344743.3	-	3	253	c.112G>A	c.(112-114)Gga>Aga	p.G38R	GLYAT_ENST00000278400.3_Missense_Mutation_p.G38R|GLYAT_ENST00000529732.1_Missense_Mutation_p.G38R	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	38					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	AATGGATTTCCATGGTTTATG	0.398																																																0													101	87	92					11																	58482866		2201	4295	6496	SO:0001583	missense	10249			AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.112G>A	11.37:g.58482866C>T	ENSP00000340200:p.Gly38Arg		O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883462	0.33255	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.19669	2.13;2.13;2.13	5.55	3.65	0.41850	Glycine N-acyltransferase, N-terminal (1);	0.157274	0.42053	D	0.000772	T	0.48624	0.1510	M	0.89785	3.06	0.29298	N	0.868857	D;D	0.69078	0.996;0.997	D;D	0.72075	0.969;0.976	T	0.51772	-0.8663	10	0.87932	D	0	-13.513	8.4595	0.32919	0.0:0.822:0.0:0.178	.	38;38	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	R	38	ENSP00000340200:G38R;ENSP00000431688:G38R;ENSP00000278400:G38R	ENSP00000278400:G38R	G	-	1	0	GLYAT	58239442	0.947000	0.32204	0.920000	0.36463	0.010000	0.07245	2.002000	0.40835	1.586000	0.49944	0.585000	0.79938	GGA		0.398	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			T	58482866	C	T	58482866	3	4	147	1	0	0	0	0	1	0	0	0	6481	603	21	2	798	2	GLYAT	11	58482866	Missense_Mutation	SNP	C	TCGA-B0-4819-01A-01D-1361-10		58482866	76523650	26	8740											
HEPHL1	341208	hgsc.bcm.edu	37	11	93754553	93754553	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr11:93754553G>T	ENST00000315765.9	+	1	27	c.19G>T	c.(19-21)Gct>Tct	p.A7S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	7					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAAGCAGCCAGCTGGCTGCAT	0.542																																																0													105	106	106					11																	93754553		1925	4125	6050	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.19G>T	11.37:g.93754553G>T	ENSP00000313699:p.Ala7Ser		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886900	0.33348	.	.	ENSG00000181333	ENST00000315765	D	0.99232	-5.6	5.87	1.79	0.24919	.	0.892845	0.09742	N	0.761788	D	0.96166	0.8750	N	0.22421	0.69	0.09310	N	1	B	0.15930	0.015	B	0.15870	0.014	D	0.92040	0.5640	10	0.09843	T	0.71	.	7.1531	0.25622	0.2069:0.2105:0.5826:0.0	.	7	Q6MZM0	HPHL1_HUMAN	S	7	ENSP00000313699:A7S	ENSP00000313699:A7S	A	+	1	0	HEPHL1	93394201	0.167000	0.22975	0.897000	0.35233	0.944000	0.59088	0.426000	0.21363	0.952000	0.37798	-0.137000	0.14449	GCT		0.542	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		T	93754553	G	T	93754553	3	4	147	1	0	0	0	0	1	0	0	0	7057	971	34	4	21	4	HEPHL1	11	93754553	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10	35271687	93754553	41251963	27	8741											
ATP2A2	488	hgsc.bcm.edu	37	12	110778549	110778549	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr12:110778549C>T	ENST00000539276.2	+	14	1956	c.1847C>T	c.(1846-1848)gCa>gTa	p.A616V	ATP2A2_ENST00000308664.6_Missense_Mutation_p.A616V|ATP2A2_ENST00000395494.2_Missense_Mutation_p.A589V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	616					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCCGGCAAGCAGGCATCCGG	0.582																																																0													95	92	93					12																	110778549		2203	4300	6503	SO:0001583	missense	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1847C>T	12.37:g.110778549C>T	ENSP00000440045:p.Ala616Val		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	36	5.924784	0.97110	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.96992	-4.2;-4.2;-4.2	6.07	6.07	0.98685	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.98833	4.345	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.79784	0.993;0.951;0.971	D	0.98732	1.0713	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	589;616;616	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	V	616;589;616	ENSP00000311186:A616V;ENSP00000378872:A589V;ENSP00000440045:A616V	ENSP00000311186:A616V	A	+	2	0	ATP2A2	109262932	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GCA		0.582	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		T	110778549	C	T	110778549	3	4	147	1	0	0	0	0	1	0	0	0	1137	710	25	2	1901	2	ATP2A2	12	110778549	Missense_Mutation	SNP	C	TCGA-B0-4819-01A-01D-1361-10		110778549	23073346	28	8742											
DHX37	57647	hgsc.bcm.edu	37	12	125448980	125448980	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr12:125448980C>T	ENST00000308736.2	-	15	2103	c.2005G>A	c.(2005-2007)Gcg>Acg	p.A669T	DHX37_ENST00000544745.1_Missense_Mutation_p.A456T	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	669	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCTCTGCCCGCTCGCTGGTCA	0.637																																																0													89	81	84					12																	125448980		2203	4300	6503	SO:0001583	missense	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2005G>A	12.37:g.125448980C>T	ENSP00000311135:p.Ala669Thr		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835511	0.91117	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.76578	-1.03;-1.03	5.17	5.17	0.71159	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88477	0.6447	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89621	0.3848	10	0.66056	D	0.02	-13.2301	18.2623	0.90039	0.0:1.0:0.0:0.0	.	669	Q8IY37	DHX37_HUMAN	T	669;456	ENSP00000311135:A669T;ENSP00000439009:A456T	ENSP00000311135:A669T	A	-	1	0	DHX37	124014933	1.000000	0.71417	0.998000	0.56505	0.357000	0.29423	7.501000	0.81600	2.419000	0.82065	0.462000	0.41574	GCG		0.637	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		T	125448980	C	T	125448980	3	4	147	1	0	0	0	0	1	0	0	0	4512	797	28	2	1520	2	DHX37	12	125448980	Missense_Mutation	SNP	C	TCGA-B0-4819-01A-01D-1361-10	14670431	125448980	8402915	29	8743											
ZBTB25	7597	hgsc.bcm.edu	37	14	64953924	64953924	+	Missense_Mutation	SNP	G	G	T	rs142507817		TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr14:64953924G>T	ENST00000608382.1	-	3	1216	c.1025C>A	c.(1024-1026)tCt>tAt	p.S342Y	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000394715.1_Missense_Mutation_p.S342Y|ZBTB25_ENST00000555220.1_Intron	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	342					gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S342F(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		CCTTGAAAAAGAAAAATTACA	0.403																																																1	Substitution - Missense(1)	skin(1)											104	111	108					14																	64953924		2203	4300	6503	SO:0001583	missense	7597			X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13112	protein-coding gene	gene with protein product		194541	"zinc finger protein 46 (KUP)", "chromosome 14 open reading frame 51"	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.1025C>A	14.37:g.64953924G>T	ENSP00000476746:p.Ser342Tyr		B3KUX6|Q8IYH9	Missense_Mutation	SNP	ENST00000608382.1	37	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399506	0.62177	.	.	ENSG00000089775	ENST00000261683;ENST00000394715	T;T	0.24350	1.86;1.86	5.97	5.97	0.96955	.	0.140827	0.49916	D	0.000139	T	0.38799	0.1054	L	0.27053	0.805	0.44380	D	0.99728	D	0.69078	0.997	D	0.63597	0.916	T	0.03175	-1.1064	10	0.39692	T	0.17	-16.2397	20.0492	0.97617	0.0:0.0:1.0:0.0	.	342	P24278	ZBT25_HUMAN	Y	342	ENSP00000261683:S342Y;ENSP00000378204:S342Y	ENSP00000261683:S342Y	S	-	2	0	ZBTB25	64023677	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.191000	0.89716	2.836000	0.97738	0.655000	0.94253	TCT		0.403	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		T	64953924	G	T	64953924	3	4	147	1	0	0	0	0	1	0	0	0	17537	942	33	4	286	4	ZBTB25	14	64953924	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10		64953924	42395616	30	8744											
SPESP1	246777	hgsc.bcm.edu	37	15	69237966	69237966	+	Silent	SNP	A	A	G			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr15:69237966A>G	ENST00000310673.3	+	2	247	c.93A>G	c.(91-93)caA>caG	p.Q31Q	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	31					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGAAGAGCAAAACTTGAATC	0.343																																																0													51	54	53					15																	69237966		2200	4298	6498	SO:0001819	synonymous_variant	246777			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.93A>G	15.37:g.69237966A>G			Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	CCDS10230.1																																																																																				0.343	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		G	69237966	A	G	69237966	2	3	147	1	0	0	0	0	0	0	0	1	15045	11	1	3		3	SPESP1	15	69237966	Silent	SNP	A	TCGA-B0-4819-01A-01D-1361-10		69237966	33293426	31	8745											
BLM	641	hgsc.bcm.edu	37	15	91306293	91306293	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr15:91306293T>A	ENST00000355112.3	+	8	2098	c.1980T>A	c.(1978-1980)caT>caA	p.H660Q	BLM_ENST00000560509.1_Missense_Mutation_p.H660Q|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	660					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGATTTTTCATAAAAAATTTG	0.373			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	0													75	81	79					15																	91306293		2198	4298	6496	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1980T>A	15.37:g.91306293T>A	ENSP00000347232:p.His660Gln		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.417277	0.42918	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.75704	-0.96	5.15	-0.187	0.13268	.	0.155036	0.56097	D	0.000026	T	0.64527	0.2606	L	0.59436	1.845	0.45330	D	0.998322	B;B;B	0.18863	0.031;0.018;0.031	B;B;B	0.14578	0.011;0.011;0.011	T	0.54523	-0.8281	10	0.36615	T	0.2	-0.0773	8.2381	0.31638	0.0:0.5608:0.0:0.4392	.	660;285;660	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	Q	660;313	ENSP00000347232:H660Q	ENSP00000347232:H660Q	H	+	3	2	BLM	89107297	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	0.561000	0.23515	0.075000	0.16796	0.482000	0.46254	CAT		0.373	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			A	91306293	T	A	91306293	3	1	147	1	0	0	0	0	1	0	0	0	1445	1403	49	5	2006	5	BLM	15	91306293	Missense_Mutation	SNP	T	TCGA-B0-4819-01A-01D-1361-10	22068327	91306293	11225099	32	8746											
IFT140	9742	hgsc.bcm.edu	37	16	1636198	1636198	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr16:1636198G>A	ENST00000426508.2	-	10	1451	c.1088C>T	c.(1087-1089)gCa>gTa	p.A363V	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	363					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CTTGCCCTCTGCCCCGGGGCT	0.582																																																0													124	109	114					16																	1636198		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1088C>T	16.37:g.1636198G>A	ENSP00000406012:p.Ala363Val		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	3.799	-0.042014	0.07452	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.58652	0.32	5.13	-7.12	0.01537	WD40/YVTN repeat-like-containing domain (1);	2.390590	0.01081	N	0.004999	T	0.42698	0.1214	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24476	-1.0159	10	0.21014	T	0.42	.	13.07	0.59055	0.2453:0.1088:0.6459:0.0	.	363	Q96RY7	IF140_HUMAN	V	363	ENSP00000406012:A363V	ENSP00000380562:A363V	A	-	2	0	IFT140	1576199	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-1.025000	0.03600	-1.625000	0.01554	-0.282000	0.10007	GCA		0.582	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1636198	G	A	1636198	3	1	147	1	0	0	0	0	1	0	0	0	7558	1319	46	2	3388	2	IFT140	16	1636198	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10		1636198	88718555	33	8747											
ATF7IP2	80063	hgsc.bcm.edu;ucsc.edu	37	16	10525097	10525097	+	Nonsense_Mutation	SNP	C	C	G			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr16:10525097C>G	ENST00000396560.2	+	3	847	c.620C>G	c.(619-621)tCa>tGa	p.S207*	ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.S207*|ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.S207*|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.S207*	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AACTCCAATTCAGAATCACAT	0.393																																																0													121	115	117					16																	10525097		2197	4300	6497	SO:0001587	stop_gained	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.620C>G	16.37:g.10525097C>G	ENSP00000379808:p.Ser207*		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Nonsense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733262	0.69189	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	.	.	.	5.43	2.41	0.29592	.	0.839135	0.09990	N	0.729790	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.6038	7.765	0.28974	0.0:0.7304:0.0:0.2696	.	.	.	.	X	207	.	ENSP00000322811:S207X	S	+	2	0	ATF7IP2	10432598	0.003000	0.15002	0.001000	0.08648	0.030000	0.12068	-0.001000	0.12947	0.678000	0.31325	0.491000	0.48974	TCA		0.393	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		G	10525097	C	G	10525097	4	3	147	1	0	0	0	0	0	1	0	0	1088	838	29	4	622	4	ATF7IP2	16	10525097	Nonsense_Mutation	SNP	C	TCGA-B0-4819-01A-01D-1361-10	8888899	10525097	79829656	34	8748											
NFATC3	4775	hgsc.bcm.edu	37	16	68225473	68225473	+	Silent	SNP	C	C	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr16:68225473C>T	ENST00000346183.3	+	9	2925	c.2901C>T	c.(2899-2901)acC>acT	p.T967T	NFATC3_ENST00000575270.1_Silent_p.T967T|NFATC3_ENST00000329524.4_Silent_p.T967T|NFATC3_ENST00000349223.5_Silent_p.T967T|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	967					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTCCAGCCACCAGAATGCATT	0.522																																																0													119	115	117					16																	68225473		2198	4300	6498	SO:0001819	synonymous_variant	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2901C>T	16.37:g.68225473C>T			O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	CCDS10860.1																																																																																				0.522	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		T	68225473	C	T	68225473	2	4	147	1	0	0	0	0	0	0	0	1	10366	581	21	2		2	NFATC3	16	68225473	Silent	SNP	C	TCGA-B0-4819-01A-01D-1361-10	57700376	68225473	22129280	35	8749											
ADAMTS18	170692	hgsc.bcm.edu	37	16	77468336	77468336	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr16:77468336C>G	ENST00000282849.5	-	2	575	c.157G>C	c.(157-159)Ggc>Cgc	p.G53R	AC025284.1_ENST00000401312.1_RNA|ADAMTS18_ENST00000567121.1_5'Flank|RP11-449J10.1_ENST00000564358.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	53					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCGCTGGCGCCGCTGCTGCTG	0.597																																																0													8	9	9					16																	77468336		2180	4266	6446	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.157G>C	16.37:g.77468336C>G	ENSP00000282849:p.Gly53Arg		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751087	0.69533	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.59502	0.26;2.82	4.67	2.59	0.31030	.	0.403999	0.25197	N	0.032411	T	0.45296	0.1335	L	0.29908	0.895	0.29984	N	0.81747	P	0.47106	0.89	P	0.46299	0.511	T	0.39143	-0.9628	10	0.21540	T	0.41	.	8.7539	0.34635	0.0:0.7333:0.0:0.2667	.	53	Q8TE60	ATS18_HUMAN	R	53	ENSP00000282849:G53R;ENSP00000392540:G53R	ENSP00000282849:G53R	G	-	1	0	ADAMTS18	76025837	1.000000	0.71417	0.945000	0.38365	0.991000	0.79684	1.811000	0.38942	0.868000	0.35678	0.462000	0.41574	GGC		0.597	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			G	77468336	C	G	77468336	3	3	147	1	0	0	0	0	1	0	0	0	263	652	23	4	3596	4	ADAMTS18	16	77468336	Missense_Mutation	SNP	C	TCGA-B0-4819-01A-01D-1361-10	9242863	77468336	12886417	36	8750											
YWHAE	7531	hgsc.bcm.edu	37	17	1257623	1257623	+	Silent	SNP	A	A	G			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr17:1257623A>G	ENST00000264335.8	-	5	864	c.597T>C	c.(595-597)ttT>ttC	p.F199F	YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Silent_p.F177F	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	199					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TTGCATCATCAAAAGCTGCTT	0.353			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																																Dom	yes		17	17p13.3	7531	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	M	0													96	77	83					17																	1257623		2203	4300	6503	SO:0001819	synonymous_variant	7531			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.597T>C	17.37:g.1257623A>G			B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Silent	SNP	ENST00000264335.8	37	CCDS11001.1																																																																																				0.353	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		G	1257623	A	G	1257623	2	3	147	1	0	0	0	0	0	0	0	1	17507	127	5	3		3	YWHAE	17	1257623	Silent	SNP	A	TCGA-B0-4819-01A-01D-1361-10		1257623	79937587	37	8751											
PITPNM3	83394	hgsc.bcm.edu	37	17	6367535	6367535	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr17:6367535G>C	ENST00000262483.8	-	16	2198	c.2111C>G	c.(2110-2112)cCc>cGc	p.P704R	PITPNM3_ENST00000421306.3_Missense_Mutation_p.P668R|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	704					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CAGGCGCCGGGGCCGCGGCAC	0.572																																																0													75	75	75					17																	6367535		2203	4300	6503	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2111C>G	17.37:g.6367535G>C	ENSP00000262483:p.Pro704Arg		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	9.889	1.203782	0.22121	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.41065	1.01;1.01	4.65	4.65	0.58169	.	0.278251	0.40554	N	0.001066	T	0.30198	0.0757	N	0.22421	0.69	0.27806	N	0.942323	B;B	0.28605	0.217;0.183	B;B	0.31946	0.138;0.054	T	0.24512	-1.0158	10	0.48119	T	0.1	.	10.6135	0.45436	0.0:0.0:0.8077:0.1923	.	668;704	F8WEW5;Q9BZ71	.;PITM3_HUMAN	R	704;668	ENSP00000262483:P704R;ENSP00000407882:P668R	ENSP00000262483:P704R	P	-	2	0	PITPNM3	6308259	0.990000	0.36364	1.000000	0.80357	0.754000	0.42855	2.254000	0.43214	2.288000	0.76882	0.511000	0.50034	CCC		0.572	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		C	6367535	G	C	6367535	3	2	147	1	0	0	0	0	1	0	0	0	11954	1232	43	4	833	4	PITPNM3	17	6367535	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10	5109912	6367535	74827675	38	8752											
USP32	84669	hgsc.bcm.edu;ucsc.edu	37	17	58343414	58343414	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr17:58343414G>A	ENST00000300896.4	-	8	1044	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F	USP32_ENST00000393003.3_Missense_Mutation_p.L284F	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	284	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACCCTGGAGAGAACTCCATCA	0.368																																																0													125	118	121					17																	58343414		2203	4300	6503	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.850C>T	17.37:g.58343414G>A	ENSP00000300896:p.Leu284Phe		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074578	0.55646	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.54675	0.56;0.56	5.6	5.6	0.85130	EF-hand-like domain (1);	0.063999	0.64402	D	0.000004	T	0.71316	0.3325	M	0.76170	2.325	0.80722	D	1	D;B	0.76494	0.999;0.293	D;B	0.83275	0.996;0.212	T	0.72975	-0.4128	10	0.56958	D	0.05	.	13.531	0.61621	0.0755:0.0:0.9245:0.0	.	284;284	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	F	284	ENSP00000300896:L284F;ENSP00000376727:L284F	ENSP00000300896:L284F	L	-	1	0	USP32	55698196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.517000	0.53443	2.643000	0.89663	0.591000	0.81541	CTC		0.368	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		A	58343414	G	A	58343414	3	1	147	1	0	0	0	0	1	0	0	0	17068	942	33	2	4072	2	USP32	17	58343414	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10	51975879	58343414	22851796	39	8753											
SLC38A10	124565	hgsc.bcm.edu	37	17	79268692	79268692	+	Silent	SNP	C	C	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr17:79268692C>T	ENST00000374759.3	-	1	413	c.30G>A	c.(28-30)ggG>ggA	p.G10G	SLC38A10_ENST00000288439.5_Silent_p.G10G	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	10					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCGTGATCAGCCCCCAGTTGG	0.672																																																0													63	58	60					17																	79268692		2203	4300	6503	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.30G>A	17.37:g.79268692C>T			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																				0.672	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		T	79268692	C	T	79268692	2	4	147	1	0	0	0	0	0	0	0	1	14608	726	26	2		2	SLC38A10	17	79268692	Silent	SNP	C	TCGA-B0-4819-01A-01D-1361-10	20925278	79268692	1926518	40	8754											
DNMT1	1786	hgsc.bcm.edu	37	19	10244940	10244940	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr19:10244940A>G	ENST00000340748.4	-	39	5004	c.4769T>C	c.(4768-4770)tTg>tCg	p.L1590S	DNMT1_ENST00000359526.4_Missense_Mutation_p.L1606S|DNMT1_ENST00000540357.1_Missense_Mutation_p.L1593S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1590	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTTGATCTCCAAGCCAATGGC	0.642																																																0													66	58	60					19																	10244940		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4769T>C	19.37:g.10244940A>G	ENSP00000345739:p.Leu1590Ser		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.956279	0.53293	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.83837	-1.77;-1.77;-1.77	4.74	3.69	0.42338	.	0.165270	0.41294	D	0.000905	T	0.79179	0.4402	L	0.39692	1.235	0.51012	D	0.999909	P;P;P	0.36733	0.511;0.511;0.567	B;B;P	0.46419	0.288;0.381;0.516	T	0.74490	-0.3648	10	0.42905	T	0.14	-13.9443	5.5285	0.16970	0.7333:0.1768:0.0899:0.0	.	1593;1606;1590	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	S	1606;1593;1590;1458	ENSP00000352516:L1606S;ENSP00000440457:L1593S;ENSP00000345739:L1590S	ENSP00000345739:L1590S	L	-	2	0	DNMT1	10105940	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.571000	0.67404	0.804000	0.34136	0.454000	0.30748	TTG		0.642	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		G	10244940	A	G	10244940	3	3	147	1	0	0	0	0	1	0	0	0	4677	131	5	3	89	3	DNMT1	19	10244940	Missense_Mutation	SNP	A	TCGA-B0-4819-01A-01D-1361-10		10244940	48884043	41	8755											
NWD1	284434	hgsc.bcm.edu;ucsc.edu	37	19	16875873	16875873	+	Silent	SNP	C	C	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr19:16875873C>T	ENST00000552788.1	+	8	2280	c.2280C>T	c.(2278-2280)ggC>ggT	p.G760G	NWD1_ENST00000549814.1_Silent_p.G760G|NWD1_ENST00000523826.1_Silent_p.G554G|NWD1_ENST00000339803.6_Silent_p.G625G|NWD1_ENST00000379808.3_Silent_p.G760G|NWD1_ENST00000524140.2_Silent_p.G760G			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	760							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTGCCGGGGCATCTCTGGGG	0.607																																																0													93	88	90					19																	16875873		2203	4300	6503	SO:0001819	synonymous_variant	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2280C>T	19.37:g.16875873C>T			C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37																																																																																					0.607	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		T	16875873	C	T	16875873	2	4	147	1	0	0	0	0	0	0	0	1	10783	697	25	2		2	NWD1	19	16875873	Silent	SNP	C	TCGA-B0-4819-01A-01D-1361-10	6630933	16875873	42253110	42	8756											
TGM6	343641	hgsc.bcm.edu	37	20	2375966	2375966	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr20:2375966G>T	ENST00000202625.2	+	3	369	c.308G>T	c.(307-309)aGc>aTc	p.S103I	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.S103I	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	103					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGTCTCGCCAGCCCTCCCAGT	0.587																																																0													75	63	67					20																	2375966		2203	4300	6503	SO:0001583	missense	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.308G>T	20.37:g.2375966G>T	ENSP00000202625:p.Ser103Ile		Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127137	0.37533	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.82433	-1.61;-1.61	4.64	3.68	0.42216	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.350897	0.33092	N	0.005298	D	0.88206	0.6374	M	0.77406	2.37	0.33928	D	0.641672	D;D	0.55800	0.966;0.973	P;P	0.58721	0.758;0.844	D	0.91963	0.5580	10	0.87932	D	0	-30.0151	10.8784	0.46925	0.0931:0.0:0.9069:0.0	.	103;103	O95932-2;O95932	.;TGM3L_HUMAN	I	103	ENSP00000202625:S103I;ENSP00000370831:S103I	ENSP00000202625:S103I	S	+	2	0	TGM6	2323966	1.000000	0.71417	0.998000	0.56505	0.181000	0.23173	3.807000	0.55591	1.160000	0.42584	0.655000	0.94253	AGC		0.587	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		T	2375966	G	T	2375966	3	4	147	1	0	0	0	0	1	0	0	0	15839	971	34	4	318	4	TGM6	20	2375966	Missense_Mutation	SNP	G	TCGA-B0-4819-01A-01D-1361-10		2375966	60649554	43	8757											
LSS	4047	hgsc.bcm.edu	37	21	47642638	47642638	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4819-01A-01D-1361-10	TCGA-B0-4819-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	5df3f4f0-5000-42a2-9e85-c3b0e93eae49	d02a7555-9cad-43ac-883c-031847eba9e2	g.chr21:47642638A>T	ENST00000397728.3	-	4	412	c.334T>A	c.(334-336)Tgc>Agc	p.C112S	AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000522411.1_Missense_Mutation_p.C112S|LSS_ENST00000356396.4_Missense_Mutation_p.C112S|LSS_ENST00000457828.2_Missense_Mutation_p.C32S	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	112					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GCCACGTGGCAAGTGATCAGG	0.607																																					Pancreas(114;955 2313 34923 50507)											0													100	81	87					21																	47642638		2203	4300	6503	SO:0001583	missense	4047			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.334T>A	21.37:g.47642638A>T	ENSP00000380837:p.Cys112Ser		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.453131	0.43531	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.17	3.99	0.46301	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.050281	0.85682	N	0.000000	T	0.28001	0.0690	L	0.42581	1.335	0.58432	D	0.999998	D;D	0.59357	0.985;0.975	P;B	0.49477	0.612;0.408	T	0.01393	-1.1366	10	0.32370	T	0.25	.	11.1115	0.48235	0.8612:0.0:0.0:0.1388	.	112;112	E9PEI9;P48449	.;ERG7_HUMAN	S	112;32;112;112;113	ENSP00000348762:C112S;ENSP00000409191:C32S;ENSP00000380837:C112S;ENSP00000429133:C112S;ENSP00000391368:C113S	ENSP00000348762:C112S	C	-	1	0	LSS	46467066	1.000000	0.71417	0.060000	0.19600	0.813000	0.45954	7.043000	0.76572	0.872000	0.35775	0.496000	0.49642	TGC		0.607	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			T	47642638	A	T	47642638	3	4	147	1	0	0	0	0	1	0	0	0	9067	130	5	5	1940	5	LSS	21	47642638	Missense_Mutation	SNP	A	TCGA-B0-4819-01A-01D-1361-10		47642638	487257	44	8758											
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	A	rs5030807		TCGA-B0-4822-01A-01W-1359-10	TCGA-B0-4822-11A-01W-1359-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	fb40db0a-2dc7-4bb4-83e8-dde7422ad257	292bd8b7-b79c-475d-b7e0-b5549a8886d4	g.chr3:10183797T>A	ENST00000256474.2	+	1	1106	c.266T>A	c.(265-267)cTc>cAc	p.L89H	VHL_ENST00000345392.2_Missense_Mutation_p.L89H|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13	16	15					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>A	3.37:g.10183797T>A	ENSP00000256474:p.Leu89His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986585	0.93106	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99576	0.9847	L	0.41492	1.28	0.33129	D	0.542832	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.957	D	0.97755	1.0217	10	0.87932	D	0	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	.	89;89	P40337-2;P40337	.;VHL_HUMAN	H	89	ENSP00000256474:L89H;ENSP00000344757:L89H	ENSP00000256474:L89H	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183797	T	A	10183797	3	1	148	1	0	0	0	0	1	0	0	0	17167	1551	54	5	268	5	VHL	3	10183797	Missense_Mutation	SNP	T	TCGA-B0-4822-01A-01W-1359-10		10183797	187838633	1	8759											
SDF4	51150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1153053	1153053	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:1153053T>C	ENST00000360001.6	-	7	1190	c.928A>G	c.(928-930)Atg>Gtg	p.M310V	SDF4_ENST00000263741.7_Silent_p.P348P			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	310	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for intracellular retention in Golgi apparatus lumen. {ECO:0000250}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)	p.M310V(1)|p.P348P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TACTCGTTCATGGGGTCCATG	0.637																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)											137	139	138					1																	1153053		2203	4300	6503	SO:0001583	missense	51150				CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"EF-hand domain containing"	24188	protein-coding gene	gene with protein product	"calcium binding protein"	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.928A>G	1.37:g.1153053T>C	ENSP00000353094:p.Met310Val		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	t	14.94	2.685018	0.47991	.	.	ENSG00000078808	ENST00000360001	T	0.08720	3.06	5.33	2.86	0.33363	EF-hand-like domain (1);	0.076117	0.85682	D	0.000000	T	0.07683	0.0193	.	.	.	0.80722	D	1	B	0.22851	0.076	B	0.24394	0.053	T	0.25745	-1.0123	9	0.33141	T	0.24	-28.1149	11.2631	0.49095	0.0:0.0:0.2915:0.7085	.	310	Q9BRK5	CAB45_HUMAN	V	310	ENSP00000353094:M310V	ENSP00000353094:M310V	M	-	1	0	SDF4	1142916	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.940000	0.70187	0.283000	0.22279	0.392000	0.25879	ATG		0.637	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		C	1153053	T	C	1153053	3	2	149	1	0	0	0	0	1	0	0	0	13968	1464	51	3	164	3	SDF4	1	1153053	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08		1153053	248097568	1	8760											
VPS13D	55187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12409404	12409404	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:12409404T>G	ENST00000358136.3	+	46	9534	c.9404T>G	c.(9403-9405)aTg>aGg	p.M3135R	VPS13D_ENST00000356315.4_Missense_Mutation_p.M3110R	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.M3135R(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGCCACTCTATGGACACAGAA	0.398																																																1	Substitution - Missense(1)	kidney(1)											84	87	86					1																	12409404		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9404T>G	1.37:g.12409404T>G	ENSP00000350854:p.Met3135Arg			Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.95|14.95	2.688239|2.688239	0.48097|0.48097	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.51325|.	0.72;0.71|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.129815|.	0.64402|.	D|.	0.000001|.	T|T	0.48804|0.48804	0.1520|0.1520	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B|.	0.22683|.	0.073;0.028|.	B;B|.	0.16722|.	0.015;0.016|.	T|T	0.45862|0.45862	-0.9232|-0.9232	10|5	0.15066|.	T|.	0.55|.	.|.	16.0421|16.0421	0.80691|0.80691	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3110;3134|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	R|G	3110;3135|1957	ENSP00000348666:M3110R;ENSP00000350854:M3135R|.	ENSP00000348666:M3110R|.	M|W	+|+	2|1	0|0	VPS13D|VPS13D	12331991|12331991	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.996000|0.996000	0.88848|0.88848	4.142000|4.142000	0.58044|0.58044	2.242000|2.242000	0.73789|0.73789	0.533000|0.533000	0.62120|0.62120	ATG|TGG		0.398	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		G	12409404	T	G	12409404	3	3	149	1	0	0	0	0	1	0	0	0	17197	1464	51	5	9582	5	VPS13D	1	12409404	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	11256351	12409404	236841217	2	8761											
TMEM54	113452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33360935	33360935	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:33360935G>A	ENST00000373463.3	-	5	684	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Missense_Mutation_p.P136S	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	189						integral component of membrane (GO:0016021)		p.P189S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCCACCAGGGCCTCAGCTCC	0.637																																																1	Substitution - Missense(1)	kidney(1)											59	46	50					1																	33360935		2203	4300	6503	SO:0001583	missense	113452				CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.565C>T	1.37:g.33360935G>A	ENSP00000362562:p.Pro189Ser		Q6UV18|Q8IVD0|Q9UM12	Missense_Mutation	SNP	ENST00000373463.3	37	CCDS371.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451256	0.84209	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T;T	0.48522	0.81;0.81	5.38	5.38	0.77491	.	0.098003	0.64402	D	0.000001	T	0.66458	0.2791	M	0.75777	2.31	0.45129	D	0.998147	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.71870	0.943;0.975;0.966	T	0.69057	-0.5246	10	0.72032	D	0.01	.	12.4798	0.55836	0.0812:0.0:0.9188:0.0	.	169;136;189	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	S	189;136	ENSP00000362562:P189S;ENSP00000328630:P136S	ENSP00000328630:P136S	P	-	1	0	TMEM54	33133522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.489000	0.60309	2.712000	0.92718	0.650000	0.86243	CCC		0.637	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		A	33360935	G	A	33360935	3	1	149	1	0	0	0	0	1	0	0	0	16185	1203	42	2	111	2	TMEM54	1	33360935	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	20951531	33360935	215889686	3	8762											
EIF2C1	26523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36372683	36372683	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:36372683C>T	ENST00000373204.4	+	12	1758	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	AGO1_ENST00000373206.1_Silent_p.L440L	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	515	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L515L(1)									GGCTGCAGCTCATTATTGTCA	0.522																																																1	Substitution - coding silent(1)	kidney(1)											125	101	109					1																	36372683		2203	4300	6503	SO:0001819	synonymous_variant	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1545C>T	1.37:g.36372683C>T			Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	CCDS398.1																																																																																				0.522	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			T	36372683	C	T	36372683	2	4	149	1	0	0	0	0	0	0	0	1	5007	813	29	2		2	EIF2C1	1	36372683	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08	3011748	36372683	212877938	4	8763											
PTPRF	5792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44085866	44085866	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:44085866C>G	ENST00000359947.4	+	30	5552	c.5212C>G	c.(5212-5214)Ctg>Gtg	p.L1738V	PTPRF_ENST00000438120.1_Missense_Mutation_p.L1729V|PTPRF_ENST00000422171.2_Missense_Mutation_p.L1097V|PTPRF_ENST00000372413.3_Missense_Mutation_p.L1729V|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.L1738V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1738	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1728V(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCGTCATGCTGACCAAGCT	0.617																																																1	Substitution - Missense(1)	kidney(1)											123	117	119					1																	44085866		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5212C>G	1.37:g.44085866C>G	ENSP00000353030:p.Leu1738Val		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.48|19.48|19.48	3.836315|3.836315|3.836315	0.71373|0.71373|0.71373	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|.|D;D;D;D;D;D	.|.|0.89196	.|.|-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.97|4.97|4.97	4.97|4.97|4.97	0.65823|0.65823|0.65823	.|.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|.|0.000000	.|.|0.27906	.|.|N	.|.|0.017377	D|D|D	0.93562|0.93562|0.93562	0.7945|0.7945|0.7945	M|M|M	0.74546|0.74546|0.74546	2.27|2.27|2.27	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D;P;D;D	.|.|0.69078	.|.|0.934;0.96;0.922;0.974;0.997	.|.|P;P;P;D;D	.|.|0.85130	.|.|0.639;0.881;0.89;0.961;0.997	D|D|D	0.93646|0.93646|0.93646	0.6969|0.6969|0.6969	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	.|.|.	13.0366|13.0366|13.0366	0.58875|0.58875|0.58875	0.0:0.9136:0.0:0.0864|0.0:0.9136:0.0:0.0864|0.0:0.9136:0.0:0.0864	.|.|.	.|.|1383;1097;1315;1729;1738	.|.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.|.;.;.;.;PTPRF_HUMAN	G|W|V	1121;1162|1383|1738;1729;1738;1729;1097;810	.|.|ENSP00000353030:L1738V;ENSP00000398822:L1729V;ENSP00000361491:L1738V;ENSP00000361490:L1729V;ENSP00000387885:L1097V;ENSP00000361484:L810V	.|.|ENSP00000353030:L1738V	A|C|L	+|+|+	2|3|1	0|2|2	PTPRF|PTPRF|PTPRF	43858453|43858453|43858453	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	4.032000|4.032000|4.032000	0.57274|0.57274|0.57274	2.700000|2.700000|2.700000	0.92200|0.92200|0.92200	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCT|TGC|CTG		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			G	44085866	C	G	44085866	3	3	149	1	0	0	0	0	1	0	0	0	12807	796	28	4	5322	4	PTPRF	1	44085866	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	7713183	44085866	205164755	5	8764											
DOCK7	85440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	63021612	63021612	+	Missense_Mutation	SNP	C	C	T	rs78144896		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:63021612C>T	ENST00000340370.5	-	21	2497	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	DOCK7_ENST00000251157.5_Missense_Mutation_p.R827Q	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	827					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.R827Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTGTGAAGTCGATTTATAAT	0.348																																																1	Substitution - Missense(1)	kidney(1)											176	170	172					1																	63021612		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2480G>A	1.37:g.63021612C>T	ENSP00000340742:p.Arg827Gln		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582463	0.46006	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.32753	1.44;1.44	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.17365	0.0417	N	0.04636	-0.2	0.80722	D	1	B;B;B;B;B	0.20550	0.037;0.022;0.037;0.041;0.046	B;B;B;B;B	0.18263	0.021;0.006;0.004;0.006;0.013	T	0.11299	-1.0593	10	0.17369	T	0.5	.	19.4782	0.94998	0.0:1.0:0.0:0.0	.	827;827;827;827;827	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	Q	827	ENSP00000251157:R827Q;ENSP00000340742:R827Q	ENSP00000251157:R827Q	R	-	2	0	DOCK7	62794200	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.838000	0.97847	0.655000	0.94253	CGA		0.348	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		T	63021612	C	T	63021612	3	4	149	1	0	0	0	0	1	0	0	0	4694	884	31	1	3965	1	DOCK7	1	63021612	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	18935746	63021612	186229009	6	8765											
PRG4	10216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186275897	186275897	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:186275897A>G	ENST00000445192.2	+	7	1091	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G	PRG4_ENST00000367485.4_Missense_Mutation_p.E256G|PRG4_ENST00000367483.4_Missense_Mutation_p.E308G|PRG4_ENST00000367486.3_Missense_Mutation_p.E306G|PRG4_ENST00000367484.3_Missense_Mutation_p.E308G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	349	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E349G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACTCCCAAGGAGCCCACGCCC	0.552																																																1	Substitution - Missense(1)	kidney(1)											140	147	144					1																	186275897		2203	4300	6503	SO:0001583	missense	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1046A>G	1.37:g.186275897A>G	ENSP00000399679:p.Glu349Gly		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.600	0.295497	0.10622	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05786	3.44;3.39;3.56;3.45;3.56	3.06	0.235	0.15431	.	.	.	.	.	T	0.04724	0.0128	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.45056	-0.9287	8	.	.	.	.	5.864	0.18765	0.4105:0.4785:0.1109:0.0	.	215;256;349;308	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	G	306;308;215;308;256;349	ENSP00000356456:E306G;ENSP00000356454:E308G;ENSP00000356453:E308G;ENSP00000356455:E256G;ENSP00000399679:E349G	.	E	+	2	0	PRG4	184542520	0.028000	0.19301	0.001000	0.08648	0.079000	0.17450	3.159000	0.50731	-0.196000	0.10366	0.357000	0.21978	GAG		0.552	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		G	186275897	A	G	186275897	3	3	149	1	0	0	0	0	1	0	0	0	12486	304	11	3	1068	3	PRG4	1	186275897	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	123254285	186275897	62974724	7	8766											
USH2A	7399	broad.mit.edu;hgsc.bcm.edu	37	1	215820889	215820889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:215820889C>T	ENST00000307340.3	-	67	15152	c.14766G>A	c.(14764-14766)tgG>tgA	p.W4922*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.W4922*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4922	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.W4922*(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAACTGATCCACTCGGAAG	0.542										HNSCC(13;0.011)																																						2	Substitution - Nonsense(2)	lung(1)|kidney(1)											94	76	82					1																	215820889		2203	4300	6503	SO:0001587	stop_gained	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14766G>A	1.37:g.215820889C>T	ENSP00000305941:p.Trp4922*		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	57	27.957722	0.99972	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.62	5.62	0.85841	.	0.000000	0.41396	D	0.000898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.2851	0.94067	0.0:1.0:0.0:0.0	.	.	.	.	X	4922	.	ENSP00000305941:W4922X	W	-	3	0	USH2A	213887512	1.000000	0.71417	0.942000	0.38095	0.856000	0.48823	7.306000	0.78905	2.648000	0.89879	0.650000	0.86243	TGG		0.542	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215820889	C	T	215820889	4	4	149	1	0	0	0	0	0	1	0	0	17041	856	30	2	866	2	USH2A	1	215820889	Nonsense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	29544992	215820889	33429732	8	8767											
RRP15	51018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	218458677	218458677	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr1:218458677G>C	ENST00000366932.3	+	1	49	c.19G>C	c.(19-21)Gac>Cac	p.D7H		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	7						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D7H(1)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CGCCGCTCCGGACTCACGTGT	0.547																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	51018				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"KIAA0507"	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.19G>C	1.37:g.218458677G>C	ENSP00000355899:p.Asp7His			Missense_Mutation	SNP	ENST00000366932.3	37	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785257	0.31593	.	.	ENSG00000067533	ENST00000366932	T	0.30448	1.53	4.12	-1.07	0.09968	.	0.769527	0.12169	N	0.493200	T	0.20414	0.0491	L	0.27053	0.805	0.09310	N	1	B	0.28512	0.214	B	0.31751	0.135	T	0.27262	-1.0079	10	0.62326	D	0.03	0.0582	7.4208	0.27071	0.5586:0.0:0.4414:0.0	.	7	Q9Y3B9	RRP15_HUMAN	H	7	ENSP00000355899:D7H	ENSP00000355899:D7H	D	+	1	0	RRP15	216525300	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.220000	0.17660	-0.199000	0.10317	-0.827000	0.03088	GAC		0.547	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052		C	218458677	G	C	218458677	3	2	149	1	0	0	0	0	1	0	0	0	13693	1174	41	4	21	4	RRP15	1	218458677	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	2637788	218458677	30791944	9	8768											
PXDN	7837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1647244	1647244	+	Missense_Mutation	SNP	C	C	G	rs534514319		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:1647244C>G	ENST00000252804.4	-	19	3898	c.3848G>C	c.(3847-3849)cGg>cCg	p.R1283P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1283					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R1283P(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTCTGCACCCGGGTGATGTT	0.627																																																1	Substitution - Missense(1)	kidney(1)											83	92	89					2																	1647244		2111	4221	6332	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3848G>C	2.37:g.1647244C>G	ENSP00000252804:p.Arg1283Pro		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693210	0.68386	.	.	ENSG00000130508	ENST00000252804	T	0.69685	-0.42	5.17	4.09	0.47781	.	0.447619	0.18810	N	0.130544	T	0.77980	0.4212	M	0.83384	2.64	0.40731	D	0.982747	P	0.52061	0.95	P	0.57911	0.829	T	0.80645	-0.1290	10	0.66056	D	0.02	-28.1783	9.5741	0.39447	0.0:0.7776:0.0:0.2224	.	1283	Q92626	PXDN_HUMAN	P	1283	ENSP00000252804:R1283P	ENSP00000252804:R1283P	R	-	2	0	PXDN	1626251	0.009000	0.17119	0.983000	0.44433	0.593000	0.36681	0.918000	0.28678	2.410000	0.81850	0.563000	0.77884	CGG		0.627	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		G	1647244	C	G	1647244	3	3	149	1	0	0	0	0	1	0	0	0	12853	652	23	4	611	4	PXDN	2	1647244	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08		1647244	241552129	10	8769											
ABHD1	84696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27346840	27346840	+	Silent	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:27346840C>G	ENST00000316470.4	+	1	138	c.24C>G	c.(22-24)ccC>ccG	p.P8P		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	8						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.P8P(1)		endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGAGCCCCCAGAATGGCA	0.637																																																1	Substitution - coding silent(1)	kidney(1)											134	112	120					2																	27346840		2203	4300	6503	SO:0001819	synonymous_variant	84696			AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"Abhydrolase domain containing"	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.24C>G	2.37:g.27346840C>G			B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Silent	SNP	ENST00000316470.4	37	CCDS1736.1																																																																																				0.637	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		G	27346840	C	G	27346840	2	3	149	1	0	0	0	0	0	0	0	1	73	610	22	4		4	ABHD1	2	27346840	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08	25699596	27346840	215852533	11	8770											
RPIA	22934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	89036070	89036070	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:89036070C>T	ENST00000283646.4	+	7	670	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	205					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.L205L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CGAAGAATCTCGGGGATCAGT	0.483																																																1	Substitution - coding silent(1)	kidney(1)											82	85	84					2																	89036070		1932	4145	6077	SO:0001819	synonymous_variant	22934			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"ribose 5-phosphate epimerase"	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.615C>T	2.37:g.89036070C>T			Q541P9|Q96BJ6	Silent	SNP	ENST00000283646.4	37	CCDS2004.2																																																																																				0.483	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			T	89036070	C	T	89036070	2	4	149	1	0	0	0	0	0	0	0	1	13559	871	31	1		1	RPIA	2	89036070	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08	61689230	89036070	154163303	12	8771											
THSD7B	80731	hgsc.bcm.edu;ucsc.edu	37	2	138208421	138208421	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:138208421T>G	ENST00000409968.1	+	15	3144	c.2966T>G	c.(2965-2967)aTt>aGt	p.I989S	THSD7B_ENST00000272643.3_Missense_Mutation_p.I989S|THSD7B_ENST00000413152.2_Missense_Mutation_p.I958S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	989	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.I958S(1)|p.I989S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCAGGTTACATTCAAGAAAAA	0.353																																																2	Substitution - Missense(2)	kidney(2)											95	89	91					2																	138208421		1838	4099	5937	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2966T>G	2.37:g.138208421T>G	ENSP00000387145:p.Ile989Ser			Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	T	11.50	1.656973	0.29425	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.59772	0.24;0.24;0.24	5.53	5.53	0.82687	.	0.319686	0.30151	N	0.010287	T	0.59074	0.2167	M	0.65498	2.005	0.80722	D	1	B	0.26775	0.159	B	0.36418	0.224	T	0.55153	-0.8185	10	0.09590	T	0.72	.	15.7104	0.77623	0.0:0.0:0.0:1.0	.	958	C9JKN6	.	S	989;989;958	ENSP00000387145:I989S;ENSP00000272643:I989S;ENSP00000413841:I958S	ENSP00000272643:I989S	I	+	2	0	THSD7B	137924891	1.000000	0.71417	0.997000	0.53966	0.224000	0.24922	6.137000	0.71710	2.112000	0.64535	0.529000	0.55759	ATT		0.353	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		G	138208421	T	G	138208421	3	3	149	1	0	0	0	0	1	0	0	0	15885	1493	52	5	2927	5	THSD7B	2	138208421	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	49172351	138208421	104990952	13	8772											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179481863	179481863	+	Silent	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:179481863G>T	ENST00000591111.1	-	205	43160	c.42936C>A	c.(42934-42936)acC>acA	p.T14312T	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342175.6_Silent_p.T7080T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.T15953T|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342992.6_Silent_p.T13385T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.T7013T|TTN_ENST00000460472.2_Silent_p.T6888T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14312	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T13385T(2)|p.T6888T(1)|p.T7080T(1)|p.T7013T(1)		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)			CATCGTCAGCGGTGAGAGGAC	0.373																																																5	Substitution - coding silent(5)	kidney(5)											57	56	56					2																	179481863		1856	4094	5950	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42936C>A	2.37:g.179481863G>T			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179481863	G	T	179481863	2	4	149	1	0	0	0	0	0	0	0	1	16740	1103	39	4		4	TTN	2	179481863	Silent	SNP	G	TCGA-B0-4823-01A-02D-1421-08	41273442	179481863	63717510	14	8773											
TFPI	7035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	188349545	188349545	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:188349545T>G	ENST00000233156.3	-	5	822	c.528A>C	c.(526-528)gaA>gaC	p.E176D	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.E176D|TFPI_ENST00000409676.1_Missense_Mutation_p.E176D|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.E176D	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	176					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E176D(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TACGACCATCTTCACAAATGT	0.343																																																2	Substitution - Missense(2)	kidney(2)											109	106	107					2																	188349545		2202	4298	6500	SO:0001583	missense	7035				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.528A>C	2.37:g.188349545T>G	ENSP00000233156:p.Glu176Asp		O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814837	0.32053	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.71	-2.35	0.06684	Proteinase inhibitor I2, Kunitz metazoa (3);	0.296964	0.37304	N	0.002151	T	0.34193	0.0889	L	0.43701	1.375	0.09310	N	1	B;B	0.20368	0.015;0.044	B;B	0.23150	0.012;0.044	T	0.26985	-1.0087	10	0.13470	T	0.59	.	6.5523	0.22442	0.1328:0.2755:0.0:0.5917	.	176;176	P10646-2;P10646	.;TFPI1_HUMAN	D	176;176;176;163;176;176	ENSP00000376172:E176D;ENSP00000233156:E176D;ENSP00000397248:E176D;ENSP00000409177:E163D;ENSP00000386344:E176D;ENSP00000342306:E176D	ENSP00000233156:E176D	E	-	3	2	TFPI	188057790	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.391000	0.07323	-0.533000	0.06323	-0.467000	0.05162	GAA		0.343	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		G	188349545	T	G	188349545	3	3	149	1	0	0	0	0	1	0	0	0	15813	1606	56	5	534	5	TFPI	2	188349545	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	8867682	188349545	54849828	15	8774											
DNAH7	56171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	196753118	196753118	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:196753118A>T	ENST00000312428.6	-	33	5370	c.5270T>A	c.(5269-5271)tTa>tAa	p.L1757*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1757	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L1757*(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTCCAGCCTAACATGTGAGG	0.393																																																1	Substitution - Nonsense(1)	kidney(1)											56	51	53					2																	196753118		1901	4121	6022	SO:0001587	stop_gained	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5270T>A	2.37:g.196753118A>T	ENSP00000311273:p.Leu1757*		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	47	13.012527	0.99713	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9736	0.80040	1.0:0.0:0.0:0.0	.	.	.	.	X	1757	.	ENSP00000311273:L1757X	L	-	2	0	DNAH7	196461363	1.000000	0.71417	0.892000	0.35008	0.986000	0.74619	9.135000	0.94478	2.308000	0.77769	0.533000	0.62120	TTA		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196753118	A	T	196753118	4	4	149	1	0	0	0	0	0	1	0	0	4608	372	13	5	6936	5	DNAH7	2	196753118	Nonsense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	8403573	196753118	46446255	16	8775											
DOCK10	55619	broad.mit.edu	37	2	225661099	225661099	+	Silent	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:225661099T>C	ENST00000258390.7	-	44	4939	c.4872A>G	c.(4870-4872)ggA>ggG	p.G1624G	DOCK10_ENST00000409592.3_Silent_p.G1618G	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1624					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G162G(1)|p.G1622G(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACCGAGAGCCTCCAATCCCAG	0.378																																																2	Substitution - coding silent(2)	kidney(2)											63	57	59					2																	225661099		1834	4070	5904	SO:0001819	synonymous_variant	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4872A>G	2.37:g.225661099T>C			B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	CCDS46528.1																																																																																				0.378	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			C	225661099	T	C	225661099	2	2	149	1	0	0	0	0	0	0	0	1	4687	1538	54	3		3	DOCK10	2	225661099	Silent	SNP	T	TCGA-B0-4823-01A-02D-1421-08	28907981	225661099	17538274	17	8776											
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238267874	238267874	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:238267874C>G	ENST00000295550.4	-	19	6781	c.6329G>C	c.(6328-6330)gGa>gCa	p.G2110A	COL6A3_ENST00000353578.4_Missense_Mutation_p.G1904A|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1503A|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1909A|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1904A|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1910A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2110	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2110A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCATCCAGTCCAATTTCTCC	0.408																																																1	Substitution - Missense(1)	kidney(1)											95	96	96					2																	238267874		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6329G>C	2.37:g.238267874C>G	ENSP00000295550:p.Gly2110Ala		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048185	0.19827	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99607	-6.27;-5.75;-4.81;-4.81;-4.81;-5.75	5.14	5.14	0.70334	.	0.000000	0.49305	D	0.000142	D	0.99796	0.9913	H	0.97051	3.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.96873	0.9641	10	0.87932	D	0	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	1503;1904;2110	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	A	2110;1909;1904;1503;1904;1910	ENSP00000295550:G2110A;ENSP00000315609:G1909A;ENSP00000315873:G1904A;ENSP00000418285:G1503A;ENSP00000386844:G1904A;ENSP00000295546:G1910A	ENSP00000295550:G2110A	G	-	2	0	COL6A3	237932613	1.000000	0.71417	0.462000	0.27118	0.108000	0.19459	7.060000	0.76692	2.398000	0.81561	0.655000	0.94253	GGA		0.408	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		G	238267874	C	G	238267874	3	3	149	1	0	0	0	0	1	0	0	0	3703	855	30	4	3308	4	COL6A3	2	238267874	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	12606775	238267874	4931499	18	8777											
SNED1	25992	broad.mit.edu	37	2	241976725	241976725	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr2:241976725C>T	ENST00000310397.8	+	6	1000	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	SNED1_ENST00000342631.6_Missense_Mutation_p.R334C|SNED1_ENST00000401884.1_Missense_Mutation_p.R334C|SNED1_ENST00000405547.3_Missense_Mutation_p.R334C|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	334	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R334C(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CAACAGTTTCCGCTGCCAGTG	0.647																																																1	Substitution - Missense(1)	kidney(1)											36	41	39					2																	241976725		2053	4195	6248	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1000C>T	2.37:g.241976725C>T	ENSP00000308893:p.Arg334Cys		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.036979|2.036979	0.35893|0.35893	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000401644|ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	.|D;D;D;D	.|0.88354	.|-2.37;-2.37;-2.37;-2.37	4.72|4.72	2.25|2.25	0.28309|0.28309	.|EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.|0.283156	.|0.29884	.|N	.|0.010956	D|D	0.89767|0.89767	0.6810|0.6810	M|M	0.89658|0.89658	3.05|3.05	0.39792|0.39792	D|D	0.972452|0.972452	.|D	.|0.57571	.|0.98	.|P	.|0.44897	.|0.463	D|D	0.88518|0.88518	0.3094|0.3094	5|10	.|0.56958	.|D	.|0.05	.|.	7.6032|7.6032	0.28087|0.28087	0.7808:0.1426:0.0767:0.0|0.7808:0.1426:0.0767:0.0	.|.	.|334	.|Q8TER0	.|SNED1_HUMAN	L|C	30|334	.|ENSP00000384871:R334C;ENSP00000386007:R334C;ENSP00000308893:R334C;ENSP00000342992:R334C	.|ENSP00000308893:R334C	P|R	+|+	2|1	0|0	SNED1|SNED1	241625398|241625398	0.003000|0.003000	0.15002|0.15002	1.000000|1.000000	0.80357|0.80357	0.400000|0.400000	0.30750|0.30750	0.094000|0.094000	0.15107|0.15107	0.649000|0.649000	0.30751|0.30751	-0.388000|-0.388000	0.06559|0.06559	CCG|CGC		0.647	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		T	241976725	C	T	241976725	3	4	149	1	0	0	0	0	1	0	0	0	14851	652	23	1	1022	1	SNED1	2	241976725	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	3708851	241976725	1222648	19	8778											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188204	10188205	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	TT	TT	TT	-	TT	TT	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:10188204_10188205delTT	ENST00000256474.2	+	2	1187_1188	c.347_348delTT	c.(346-348)cttfs	p.L116fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)|p.W117fs*14(2)|p.L116L(1)|p.H115fs*15(1)|p.W117fs*40(1)|p.W117fs*42(1)|p.H115fs*41(1)|p.H115fs*42(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATAGGTCACCTTTGGCTCTTCA	0.525		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Deletion - Frameshift(7)|Unknown(2)|Substitution - coding silent(1)	kidney(10)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.347_348delTT	3.37:g.10188204_10188205delTT	ENSP00000256474:p.Leu116fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.525	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188205	TT	-	10188204	7	5	149	1	0	1	0	1	0	0	0	0	17167	1609	56	0	353	0	VHL	3	10188204	Frame_Shift_Del	DEL	TT	TCGA-B0-4823-01A-02D-1421-08		10188204	187834226	20	8779											
MCM2	4171	hgsc.bcm.edu	37	3	127323892	127323893	+	Frame_Shift_Ins	INS	-	-	G	rs555504342		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:127323892_127323893insG	ENST00000265056.7	+	4	810_811	c.566_567insG	c.(565-570)gcgggcfs	p.AG189fs		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	189	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GTGAGCATGGCGGGCCCCCGGC	0.629																																																0																																										SO:0001589	frameshift_variant	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.569dupG	3.37:g.127323895_127323895dupG	ENSP00000265056:p.Ala189fs		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Frame_Shift_Ins	INS	ENST00000265056.7	37	CCDS3043.1																																																																																				0.629	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			G	127323893	-	G	127323892	7	5	149	1	0	1	1	0	0	0	0	0	9388	768	27	0	580	0	MCM2	3	127323892	Frame_Shift_Ins	INS	-	TCGA-B0-4823-01A-02D-1421-08	117135688	127323892	70698538	21	8780											
MCM2	4171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	127325478	127325478	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:127325478C>A	ENST00000265056.7	+	6	1163	c.919C>A	c.(919-921)Cgc>Agc	p.R307S		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	307					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.R307S(1)		ovary(3)|skin(2)|stomach(1)	6						CCAGCTGATCCGCACCAGTGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											60	56	57					3																	127325478		2203	4300	6503	SO:0001583	missense	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.919C>A	3.37:g.127325478C>A	ENSP00000265056:p.Arg307Ser		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346420	0.82022	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.09445	2.98	4.99	4.99	0.66335	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	M	0.82823	2.61	0.80722	D	1	D;D;D	0.69078	0.997;0.982;0.967	D;P;P	0.75484	0.986;0.862;0.809	T	0.39901	-0.9591	10	0.87932	D	0	-20.494	18.3029	0.90169	0.0:1.0:0.0:0.0	.	288;177;307	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	S	307;211;288	ENSP00000265056:R307S	ENSP00000265056:R307S	R	+	1	0	MCM2	128808168	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.118000	0.50414	2.302000	0.77476	0.585000	0.79938	CGC		0.602	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			A	127325478	C	A	127325478	3	1	149	1	0	0	0	0	1	0	0	0	9388	652	23	4	941	4	MCM2	3	127325478	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	1586	127325478	70696952	22	8781											
MECOM	2122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	168802758	168802758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:168802758C>T	ENST00000464456.1	-	15	4268	c.3068G>A	c.(3067-3069)tGg>tAg	p.W1023*	MECOM_ENST00000392736.3_Nonsense_Mutation_p.W1032*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.W1033*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.W1032*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.W1211*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.W1033*|MECOM_ENST00000264674.3_Nonsense_Mutation_p.W1097*|MECOM_ENST00000460814.1_3'UTR	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W1032*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATACTGTGCCACACGTTGGA	0.517																																																1	Substitution - Nonsense(1)	kidney(1)											177	153	161					3																	168802758		2203	4300	6503	SO:0001587	stop_gained	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.3068G>A	3.37:g.168802758C>T	ENSP00000419770:p.Trp1023*		Q13466|Q6FH90	Nonsense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	40	8.071459	0.98640	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000433243	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.535	20.0368	0.97565	0.0:1.0:0.0:0.0	.	.	.	.	X	1097;1032;1023;1033;1211;1032;1033	.	ENSP00000264674:W1097X	W	-	2	0	MECOM	170285452	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.141000	0.77330	2.735000	0.93741	0.563000	0.77884	TGG		0.517	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		T	168802758	C	T	168802758	4	4	149	1	0	0	0	0	0	1	0	0	9424	595	21	2	64	2	MECOM	3	168802758	Nonsense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	41477280	168802758	29219672	23	8782											
EIF4G1	1981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184049133	184049133	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:184049133G>C	ENST00000346169.2	+	29	4512	c.4241G>C	c.(4240-4242)gGt>gCt	p.G1414A	EIF4G1_ENST00000350481.5_Missense_Mutation_p.G1250A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G1421A|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G1218A|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G1327A|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G1421A|EIF4G1_ENST00000342981.4_Missense_Mutation_p.G1415A|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G1421A|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G1375A|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G1328A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G1374A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G1219A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G1414A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G1251A	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1414					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.G1414A(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGACATTGGTGCATTCGTC	0.517																																																1	Substitution - Missense(1)	kidney(1)											164	174	171					3																	184049133		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4241G>C	3.37:g.184049133G>C	ENSP00000316879:p.Gly1414Ala		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	9.138	1.013198	0.19277	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.41	-1.11	0.09840	Armadillo-type fold (1);	0.326804	0.33217	N	0.005155	T	0.14527	0.0351	N	0.12182	0.205	0.24148	N	0.995704	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11743	-1.0575	10	0.08599	T	0.76	0.9768	0.9879	0.01450	0.3581:0.2821:0.2173:0.1425	.	1421;1415;1414	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	A	1414;1374;1327;1421;1250;1421;1328;1415;1414;1421;1375;1251;1219;1218	ENSP00000316879:G1414A;ENSP00000391935:G1374A;ENSP00000376320:G1327A;ENSP00000371767:G1421A;ENSP00000317600:G1250A;ENSP00000338020:G1421A;ENSP00000407682:G1328A;ENSP00000343450:G1415A;ENSP00000323737:G1414A;ENSP00000416255:G1421A;ENSP00000395974:G1375A;ENSP00000399858:G1251A;ENSP00000411826:G1219A;ENSP00000404754:G1218A	ENSP00000323737:G1414A	G	+	2	0	EIF4G1	185531827	0.429000	0.25530	0.014000	0.15608	0.965000	0.64279	2.924000	0.48876	0.009000	0.14813	-0.259000	0.10710	GGT		0.517	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		C	184049133	G	C	184049133	3	2	149	1	0	0	0	0	1	0	0	0	5038	1261	44	4	4347	4	EIF4G1	3	184049133	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	15246375	184049133	13973297	24	8783											
C3orf59	151963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	192516184	192516184	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr3:192516184T>A	ENST00000392452.2	-	2	1787	c.1467A>T	c.(1465-1467)aaA>aaT	p.K489N		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	489							protein complex binding (GO:0032403)	p.K487N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CTCAGAAAAATTTGTCATCAA	0.378																																																1	Substitution - Missense(1)	kidney(1)											75	79	78					3																	192516184		2203	4300	6503	SO:0001583	missense	0			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1467A>T	3.37:g.192516184T>A	ENSP00000376246:p.Lys489Asn		Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919444	0.52653	.	.	ENSG00000180611	ENST00000392452	T	0.61742	0.08	5.62	1.93	0.25924	.	0.045994	0.85682	D	0.000000	T	0.61236	0.2331	L	0.36672	1.1	0.54753	D	0.999984	D	0.57899	0.981	D	0.67231	0.95	T	0.60454	-0.7260	10	0.87932	D	0	-0.3117	8.3704	0.32412	0.0:0.2952:0.0:0.7048	.	489	Q8IYB1	M21D2_HUMAN	N	489	ENSP00000376246:K489N	ENSP00000376246:K489N	K	-	3	2	MB21D2	193998878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.830000	0.39131	0.426000	0.26116	0.528000	0.53228	AAA		0.378	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		A	192516184	T	A	192516184	3	1	149	1	0	0	0	0	1	0	0	0	2239	1490	52	5	12	5	C3orf59	3	192516184	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	8467051	192516184	5506246	25	8784											
CD38	952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	15818217	15818217	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr4:15818217A>G	ENST00000226279.3	+	2	454	c.317A>G	c.(316-318)tAt>tGt	p.Y106C		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	106					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GAAGAAGACTATCAGCCACTA	0.408																																																1	Substitution - Missense(1)	kidney(1)											100	94	96					4																	15818217		2203	4300	6503	SO:0001583	missense	952			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"CD molecules"	1667	protein-coding gene	gene with protein product	"ADP-ribosyl cyclase 1", "NAD(+) nucleosidase"	107270	"CD38 antigen (p45)"			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.317A>G	4.37:g.15818217A>G	ENSP00000226279:p.Tyr106Cys		O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273788	0.59649	.	.	ENSG00000004468	ENST00000226279;ENST00000540195	T	0.37235	1.21	5.57	5.57	0.84162	.	0.063699	0.64402	D	0.000004	T	0.64638	0.2616	M	0.87180	2.865	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71381	-0.4610	10	0.87932	D	0	-35.1676	13.2605	0.60102	1.0:0.0:0.0:0.0	.	106;106	P28907;B2R880	CD38_HUMAN;.	C	106	ENSP00000226279:Y106C	ENSP00000226279:Y106C	Y	+	2	0	CD38	15427315	0.998000	0.40836	0.917000	0.36280	0.608000	0.37181	5.084000	0.64462	2.120000	0.65058	0.460000	0.39030	TAT		0.408	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		G	15818217	A	G	15818217	3	3	149	1	0	0	0	0	1	0	0	0	3011	449	16	3	323	3	CD38	4	15818217	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08		15818217	175336059	26	8785											
UGT2A1	10941	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	70464995	70464995	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr4:70464995A>C	ENST00000503640.1	-	2	888	c.833T>G	c.(832-834)tTg>tGg	p.L278W	UGT2A2_ENST00000457664.2_Missense_Mutation_p.L287W|UGT2A1_ENST00000286604.4_Missense_Mutation_p.L322W|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L488W|UGT2A1_ENST00000512704.1_Missense_Mutation_p.L278W	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	278					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L287W(1)|p.L278W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTGCAGTGCAATCCTCCAAC	0.348																																																2	Substitution - Missense(2)	kidney(2)											66	62	63					4																	70464995		2203	4300	6503	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.833T>G	4.37:g.70464995A>C	ENSP00000424478:p.Leu278Trp		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.358787	0.61403	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.68331	-0.1;-0.1;-0.32;-0.32;-0.18	4.64	4.64	0.57946	.	0.153399	0.40302	N	0.001126	D	0.85544	0.5721	H	0.94582	3.555	.	.	.	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.989;0.996;0.979;0.999;1.0	D	0.91186	0.4980	9	0.87932	D	0	.	12.3396	0.55087	1.0:0.0:0.0:0.0	.	488;488;278;287;278	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	W	287;278;278;488;322	ENSP00000387888:L287W;ENSP00000424478:L278W;ENSP00000421432:L278W;ENSP00000425497:L488W;ENSP00000286604:L322W	ENSP00000286604:L322W	L	-	2	0	UGT2A1	70499584	1.000000	0.71417	0.992000	0.48379	0.706000	0.40770	8.783000	0.91813	2.069000	0.61940	0.460000	0.39030	TTG		0.348	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		C	70464995	A	C	70464995	3	2	149	1	0	0	0	0	1	0	0	0	16958	131	5	5	770	5	UGT2A1	4	70464995	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	54646778	70464995	120689281	27	8786											
SHROOM3	57619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77677855	77677855	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr4:77677855G>A	ENST00000296043.6	+	8	5916	c.4963G>A	c.(4963-4965)Gtc>Atc	p.V1655I	RP11-359D14.2_ENST00000452412.1_RNA|RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1655					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.V1654I(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGAAAAGAAAGTCAGTCCTGA	0.498																																																1	Substitution - Missense(1)	kidney(1)											77	81	80					4																	77677855		2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4963G>A	4.37:g.77677855G>A	ENSP00000296043:p.Val1655Ile		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793484	0.50102	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	T	0.19669	2.13	4.75	2.98	0.34508	.	2.740240	0.01184	N	0.007170	T	0.18635	0.0447	L	0.46157	1.445	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.22695	-1.0209	10	0.24483	T	0.36	-3.2336	0.8649	0.01201	0.3166:0.1552:0.3685:0.1597	.	1655	Q8TF72	SHRM3_HUMAN	I	1655;132	ENSP00000296043:V1655I	ENSP00000264907:V132I	V	+	1	0	SHROOM3	77896879	0.007000	0.16637	0.012000	0.15200	0.954000	0.61252	0.360000	0.20250	0.688000	0.31529	0.585000	0.79938	GTC		0.498	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		A	77677855	G	A	77677855	3	1	149	1	0	0	0	0	1	0	0	0	14301	1029	36	2	4993	2	SHROOM3	4	77677855	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	7212860	77677855	113476421	28	8787											
SCLT1	132320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	129812271	129812271	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr4:129812271T>G	ENST00000281142.5	-	19	2354	c.1851A>C	c.(1849-1851)aaA>aaC	p.K617N	SCLT1_ENST00000439369.2_Missense_Mutation_p.K104N|SCLT1_ENST00000503215.1_Missense_Mutation_p.K213N|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Missense_Mutation_p.K236N	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	617					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.K617N(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GGGTATGAAGTTTCTGTCGAC	0.398																																																2	Substitution - Missense(2)	kidney(2)											116	109	112					4																	129812271		2203	4300	6503	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1851A>C	4.37:g.129812271T>G	ENSP00000281142:p.Lys617Asn		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090111	0.36855	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215	T;T;T	0.55760	0.5;2.94;2.94	4.13	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.29908	0.895	0.19945	N	0.999949	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.994;0.996;0.991	T	0.38866	-0.9641	9	.	.	.	-23.2199	7.408	0.27001	0.0:0.1039:0.0:0.8961	.	104;236;617;213	Q96NL6-3;Q96NL6-2;Q96NL6;D6RBP0	.;.;SCLT1_HUMAN;.	N	617;236;104;213	ENSP00000281142:K617N;ENSP00000401539:K236N;ENSP00000424029:K213N	.	K	-	3	2	SCLT1	130031721	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.680000	0.46918	0.762000	0.33152	0.477000	0.44152	AAA		0.398	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		G	129812271	T	G	129812271	3	3	149	1	0	0	0	0	1	0	0	0	13912	1722	60	5	227	5	SCLT1	4	129812271	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	52134416	129812271	61342005	29	8788											
ELF2	1998	broad.mit.edu;hgsc.bcm.edu	37	4	139980658	139980658	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr4:139980658T>C	ENST00000394235.2	-	10	1727	c.1225A>G	c.(1225-1227)Acc>Gcc	p.T409A	ELF2_ENST00000379549.2_Missense_Mutation_p.T332A|ELF2_ENST00000358635.3_Missense_Mutation_p.T361A|ELF2_ENST00000510408.1_Missense_Mutation_p.T349A|ELF2_ENST00000379550.1_Missense_Mutation_p.T421A|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000265495.4_Missense_Mutation_p.T409A	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.T409A(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTAGTGCTGGTTATTAATGGT	0.438																																																1	Substitution - Missense(1)	kidney(1)											84	78	80					4																	139980658		2203	4297	6500	SO:0001583	missense	1998			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1225A>G	4.37:g.139980658T>C	ENSP00000377782:p.Thr409Ala			Missense_Mutation	SNP	ENST00000394235.2	37	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	T	3.016	-0.202864	0.06219	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	T;T;T;T;T;T	0.10192	2.93;3.09;3.11;3.09;3.12;2.9	5.6	5.6	0.85130	.	0.359749	0.34362	N	0.004037	T	0.06781	0.0173	N	0.17082	0.46	0.37889	D	0.930647	B;B;B;B;B	0.11235	0.0;0.004;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.002;0.003;0.001;0.0;0.001	T	0.37197	-0.9716	9	.	.	.	.	10.1736	0.42924	0.0:0.0743:0.0:0.9257	.	224;409;332;349;361	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	A	361;409;421;409;332;224;349	ENSP00000351458:T361A;ENSP00000377782:T409A;ENSP00000368868:T421A;ENSP00000265495:T409A;ENSP00000368867:T332A;ENSP00000426997:T349A	.	T	-	1	0	ELF2	140200108	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	3.135000	0.50546	2.124000	0.65301	0.528000	0.53228	ACC		0.438	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		C	139980658	T	C	139980658	3	2	149	1	0	0	0	0	1	0	0	0	5056	1725	60	3	524	3	ELF2	4	139980658	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	10168387	139980658	51173618	30	8789											
SLC12A7	10723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	1073766	1073766	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:1073766C>T	ENST00000264930.5	-	17	2266	c.2223G>A	c.(2221-2223)gaG>gaA	p.E741E		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	741					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.E741E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCGCTGAGCCTCCATGTGCT	0.687																																																1	Substitution - coding silent(1)	kidney(1)											50	56	54					5																	1073766		2201	4298	6499	SO:0001819	synonymous_variant	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2223G>A	5.37:g.1073766C>T			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	c	0.122	-1.124751	0.01770	.	.	ENSG00000113504	ENST00000513223	.	.	.	4.04	1.14	0.20703	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48210	-0.9055	4	.	.	.	.	8.5362	0.33364	0.0:0.6333:0.0:0.3667	.	.	.	.	S	99	.	.	G	-	1	0	SLC12A7	1126766	1.000000	0.71417	0.583000	0.28640	0.004000	0.04260	1.913000	0.39956	0.290000	0.22444	-0.373000	0.07131	GGC		0.687	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		T	1073766	C	T	1073766	2	4	149	1	0	0	0	0	0	0	0	1	14394	680	24	2		2	SLC12A7	5	1073766	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08		1073766	179841494	31	8790											
C5orf22	55322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	31538683	31538683	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:31538683G>T	ENST00000325366.9	+	4	821	c.694G>T	c.(694-696)Gct>Tct	p.A232S	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	232								p.A232S(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						ATGCCAGACTGCTGCCAGCAC	0.408																																																1	Substitution - Missense(1)	kidney(1)											53	52	52					5																	31538683		2203	4300	6503	SO:0001583	missense	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.694G>T	5.37:g.31538683G>T	ENSP00000326879:p.Ala232Ser		Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.246656	0.01481	.	.	ENSG00000082213	ENST00000325366	T	0.28895	1.59	5.99	-2.43	0.06522	.	0.536090	0.22619	N	0.057723	T	0.09379	0.0231	N	0.04203	-0.255	0.09310	N	0.999998	B	0.06786	0.001	B	0.11329	0.006	T	0.34875	-0.9811	10	0.07175	T	0.84	-0.3239	6.6926	0.23181	0.499:0.0:0.3858:0.1151	.	232	Q49AR2	CE022_HUMAN	S	232	ENSP00000326879:A232S	ENSP00000326879:A232S	A	+	1	0	C5orf22	31574440	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.314000	0.08092	-0.324000	0.08589	-0.290000	0.09829	GCT		0.408	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		T	31538683	G	T	31538683	3	4	149	1	0	0	0	0	1	0	0	0	2287	1319	46	4	708	4	C5orf22	5	31538683	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	30464917	31538683	149376577	32	8791											
MCCC2	64087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	70928000	70928000	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:70928000A>G	ENST00000340941.6	+	8	920	c.791A>G	c.(790-792)gAt>gGt	p.D264G	MCCC2_ENST00000323375.8_Missense_Mutation_p.D226G|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Missense_Mutation_p.D264G	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	264	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.D264G(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GGAGGTGCTGATCTTCATTGC	0.393																																																1	Substitution - Missense(1)	kidney(1)											308	292	298					5																	70928000		2203	4300	6503	SO:0001583	missense	64087			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.791A>G	5.37:g.70928000A>G	ENSP00000343657:p.Asp264Gly		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769472	0.90020	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375;ENST00000509539	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	5.16	5.16	0.70880	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	M	0.87456	2.885	0.80722	D	1	D;P;P	0.61697	0.99;0.907;0.912	D;P;P	0.67231	0.95;0.792;0.877	D	0.99686	1.1000	10	0.87932	D	0	-31.4804	14.2713	0.66154	1.0:0.0:0.0:0.0	.	264;133;264	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	G	264;264;226;39	ENSP00000343657:D264G;ENSP00000420994:D264G;ENSP00000327308:D226G;ENSP00000425474:D39G	ENSP00000327308:D226G	D	+	2	0	MCCC2	70963756	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.486000	0.90451	2.088000	0.63022	0.454000	0.30748	GAT		0.393	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			G	70928000	A	G	70928000	3	3	149	1	0	0	0	0	1	0	0	0	9377	333	12	3	821	3	MCCC2	5	70928000	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	39389317	70928000	109987260	33	8792											
AFF4	27125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132228042	132228042	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:132228042C>T	ENST00000265343.5	-	13	2830	c.2451G>A	c.(2449-2451)ggG>ggA	p.G817G	AFF4_ENST00000378595.3_Silent_p.G817G	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	817					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G817G(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGAACAGGCCCAGCGGGAG	0.448																																					Ovarian(126;889 1733 2942 10745 11605)											1	Substitution - coding silent(1)	kidney(1)											112	114	114					5																	132228042		2203	4300	6503	SO:0001819	synonymous_variant	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2451G>A	5.37:g.132228042C>T			B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	37	CCDS4164.1																																																																																				0.448	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		T	132228042	C	T	132228042	2	4	149	1	0	0	0	0	0	0	0	1	359	726	26	2		2	AFF4	5	132228042	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08	61300042	132228042	48687218	34	8793											
PCDHGA10	56102	hgsc.bcm.edu	37	5	140795208	140795209	+	Intron	INS	-	-	A	rs113784532		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:140795208_140795209insA	ENST00000576222.1	+	1	2546				PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	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)			TTACTTTTGTTAAAAAAAAAAA	0.317																																																0																																										SO:0001627	intron_variant	56106			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+42832->A	5.37:g.140795219_140795219dupA			A7E229|Q9Y5C7	Frame_Shift_Ins	INS	ENST00000576222.1	37	CCDS58980.1																																																																																				0.317	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140795209	-	A	140795208	6	5	149	0	1	1	1	0	0	0	0	0	11553	1741	61	0		0	PCDHGA10	5	140795208	Intron	INS	-	TCGA-B0-4823-01A-02D-1421-08	8567166	140795208	40120052	35	8794											
GALNT10	55568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	153755895	153755895	+	Silent	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr5:153755895T>G	ENST00000297107.6	+	5	764	c.627T>G	c.(625-627)ctT>ctG	p.L209L	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Silent_p.L209L	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	209	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L209L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGAGGATTCTTCGAACCAAGA	0.502																																																1	Substitution - coding silent(1)	kidney(1)											117	117	117					5																	153755895		2203	4300	6503	SO:0001819	synonymous_variant	55568			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.627T>G	5.37:g.153755895T>G			B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	CCDS4325.1																																																																																				0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		G	153755895	T	G	153755895	2	3	149	1	0	0	0	0	0	0	0	1	6210	1770	62	5		5	GALNT10	5	153755895	Silent	SNP	T	TCGA-B0-4823-01A-02D-1421-08	12960687	153755895	27159365	36	8795											
KIF13A	63971	hgsc.bcm.edu;ucsc.edu	37	6	17764666	17764666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:17764666delG	ENST00000259711.6	-	39	5198	c.5093delC	c.(5092-5094)tcafs	p.S1698fs	KIF13A_ENST00000378816.5_Frame_Shift_Del_p.S1663fs|KIF13A_ENST00000378814.5_Frame_Shift_Del_p.S1650fs|KIF13A_ENST00000378826.2_Frame_Shift_Del_p.S1663fs|KIF13A_ENST00000378843.2_Frame_Shift_Del_p.S1650fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1698					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTCTGAACATGAGCCAGTCCT	0.527																																																0													95	87	90					6																	17764666		1961	4159	6120	SO:0001589	frameshift_variant	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.5093delC	6.37:g.17764666delG	ENSP00000259711:p.Ser1698fs		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Del	DEL	ENST00000259711.6	37	CCDS47381.1																																																																																				0.527	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			-	17764666	G	-	17764666	7	5	149	1	0	1	0	1	0	0	0	0	8276	1294	45	0	353	0	KIF13A	6	17764666	Frame_Shift_Del	DEL	G	TCGA-B0-4823-01A-02D-1421-08		17764666	153350401	37	8796											
MTCH1	23787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36938212	36938212	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:36938212A>G	ENST00000373627.5	-	10	1116	c.992T>C	c.(991-993)gTt>gCt	p.V331A	MTCH1_ENST00000373616.5_Missense_Mutation_p.V314A|MTCH1_ENST00000538808.1_Missense_Mutation_p.V158A|MTCH1_ENST00000471737.1_5'UTR	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	331					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.V314A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GAGGTCGCCAACTAGCAGGAA	0.627																																																1	Substitution - Missense(1)	kidney(1)											91	82	85					6																	36938212		2203	4300	6503	SO:0001583	missense	23787			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"Solute carriers"	17586	protein-coding gene	gene with protein product	"solute carrier family 25, member 49"	610449	"mitochondrial carrier homolog 1 (C. elegans)"			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.992T>C	6.37:g.36938212A>G	ENSP00000362730:p.Val331Ala		A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	37		.	.	.	.	.	.	.	.	.	.	A	22.3	4.270913	0.80469	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855;ENST00000373565;ENST00000460219;ENST00000538808	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.52	5.52	0.82312	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000013	D	0.86644	0.5982	M	0.74546	2.27	0.53005	D	0.999962	D;D;D;D	0.76494	0.999;0.998;0.997;0.99	D;D;D;D	0.78314	0.991;0.984;0.978;0.98	D	0.88309	0.2955	10	0.62326	D	0.03	-11.2963	14.2274	0.65868	1.0:0.0:0.0:0.0	.	158;313;331;314	B4E0C5;Q8IW90;Q9NZJ7;Q9NZJ7-2	.;.;MTCH1_HUMAN;.	A	314;331;250;144;298;158	ENSP00000362718:V314A;ENSP00000362730:V331A;ENSP00000419739:V298A;ENSP00000437660:V158A	ENSP00000338712:V250A	V	-	2	0	MTCH1	37046190	1.000000	0.71417	0.937000	0.37676	0.926000	0.56050	5.547000	0.67249	2.100000	0.63781	0.533000	0.62120	GTT		0.627	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		G	36938212	A	G	36938212	3	3	149	1	0	0	0	0	1	0	0	0	9915	43	2	3	189	3	MTCH1	6	36938212	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	19173546	36938212	134176855	38	8797											
TRDN	10345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	123545248	123545248	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:123545248C>T	ENST00000398178.3	-	39	2025	c.2004G>A	c.(2002-2004)aaG>aaA	p.K668K	TRDN_ENST00000334268.4_Silent_p.K660K	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	668					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.K668K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTTTAGCTTTCTTTGAAGCTG	0.328																																																1	Substitution - coding silent(1)	kidney(1)											86	83	84					6																	123545248		1818	4080	5898	SO:0001819	synonymous_variant	10345			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.2004G>A	6.37:g.123545248C>T			A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	CCDS55053.1																																																																																				0.328	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	123545248	C	T	123545248	2	4	149	1	0	0	0	0	0	0	0	1	16473	912	32	2		2	TRDN	6	123545248	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08	86607036	123545248	47569819	39	8798											
ECHDC1	55862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	127652111	127652111	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:127652111delT	ENST00000531967.1	-	2	584	c.81delA	c.(79-81)acafs	p.T27fs	ECHDC1_ENST00000454859.3_Frame_Shift_Del_p.T21fs|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000430841.2_Frame_Shift_Del_p.T21fs|ECHDC1_ENST00000368291.2_Frame_Shift_Del_p.T21fs|ECHDC1_ENST00000309620.9_Frame_Shift_Del_p.T21fs|ECHDC1_ENST00000368289.2_Frame_Shift_Del_p.T21fs|ECHDC1_ENST00000474289.2_Frame_Shift_Del_p.T21fs|ECHDC1_ENST00000528402.1_Intron	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	27						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GTGACAATCCTGTTTGATGTA	0.393																																																0													83	80	81					6																	127652111		2203	4300	6503	SO:0001589	frameshift_variant	55862			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"enoyl Coenzyme A hydratase domain containing 1"			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.81delA	6.37:g.127652111delT	ENSP00000436585:p.Thr27fs		A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Frame_Shift_Del	DEL	ENST00000531967.1	37	CCDS47471.1																																																																																				0.393	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			-	127652111	T	-	127652111	7	5	149	1	0	1	0	1	0	0	0	0	4895	1567	55	0	862	0	ECHDC1	6	127652111	Frame_Shift_Del	DEL	T	TCGA-B0-4823-01A-02D-1421-08	4106863	127652111	43462956	40	8799											
EPB41L2	2037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	131179363	131179363	+	Silent	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:131179363C>T	ENST00000337057.3	-	19	3112	c.2931G>A	c.(2929-2931)agG>agA	p.R977R	EPB41L2_ENST00000368128.2_Silent_p.R977R|EPB41L2_ENST00000528282.1_Silent_p.R719R|EPB41L2_ENST00000445890.2_Silent_p.R719R|EPB41L2_ENST00000524581.1_Silent_p.R355R|EPB41L2_ENST00000531410.1_Silent_p.R98R|EPB41L2_ENST00000527411.1_Silent_p.R907R|EPB41L2_ENST00000527659.1_Silent_p.R783R|EPB41L2_ENST00000530481.1_Silent_p.R824R|EPB41L2_ENST00000525193.1_Silent_p.R678R|EPB41L2_ENST00000529208.1_Silent_p.R907R|EPB41L2_ENST00000392427.3_Silent_p.R645R|EPB41L2_ENST00000530757.1_Silent_p.R173R|EPB41L2_ENST00000525271.1_Silent_p.R645R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	977	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.R977R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCTGGCTTCCCTGATCGCCT	0.537																																																1	Substitution - coding silent(1)	kidney(1)											231	180	197					6																	131179363		2203	4300	6503	SO:0001819	synonymous_variant	2037			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2931G>A	6.37:g.131179363C>T			B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	CCDS5141.1																																																																																				0.537	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			T	131179363	C	T	131179363	2	4	149	1	0	0	0	0	0	0	0	1	5155	622	22	2		2	EPB41L2	6	131179363	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08	3527252	131179363	39935704	41	8800											
PPIL4	85313	broad.mit.edu;hgsc.bcm.edu	37	6	149838586	149838586	+	Splice_Site	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr6:149838586C>A	ENST00000253329.2	-	11	1015	c.983G>T	c.(982-984)gGt>gTt	p.G328V	PPIL4_ENST00000340881.2_5'UTR|RNU7-3P_ENST00000516435.1_RNA	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	328	Lys-rich.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.G328V(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GTATTTCCCACCTATTTATTA	0.299																																																1	Substitution - Missense(1)	kidney(1)											80	70	73					6																	149838586		2202	4297	6499	SO:0001630	splice_region_variant	85313				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.983-1G>T	6.37:g.149838586C>A			B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423198	0.83559	.	.	ENSG00000131013	ENST00000253329	T	0.15256	2.44	5.83	5.83	0.93111	.	0.044220	0.85682	D	0.000000	T	0.34483	0.0899	M	0.72353	2.195	0.80722	D	1	P;D	0.76494	0.839;0.999	P;D	0.63597	0.448;0.916	T	0.03212	-1.1060	10	0.59425	D	0.04	.	20.1133	0.97917	0.0:1.0:0.0:0.0	.	328;328	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	V	328	ENSP00000253329:G328V	ENSP00000253329:G328V	G	-	2	0	PPIL4	149880279	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.174000	0.77620	2.766000	0.95052	0.491000	0.48974	GGT		0.299	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1		Missense_Mutation	A	149838586	C	A	149838586	5	1	149	1	0	0	0	0	0	0	1	0	12334	521	18	4	507	4	PPIL4	6	149838586	Splice_Site	SNP	C	TCGA-B0-4823-01A-02D-1421-08	18659223	149838586	21276481	42	8801											
NUPL2	11097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23240190	23240190	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:23240190T>A	ENST00000258742.5	+	7	1357	c.1098T>A	c.(1096-1098)aaT>aaA	p.N366K		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	366	Interaction with GLE1.|Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)	p.N366K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTTTGGAAATAGCAGCATAT	0.463																																																1	Substitution - Missense(1)	kidney(1)											148	141	143					7																	23240190		2203	4300	6503	SO:0001583	missense	11097			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.1098T>A	7.37:g.23240190T>A	ENSP00000258742:p.Asn366Lys		A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	T	2.604	-0.292389	0.05568	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.29917	1.64;1.55	5.6	-1.65	0.08291	.	1.188620	0.05651	N	0.585190	T	0.19446	0.0467	L	0.36672	1.1	0.09310	N	1	B	0.34015	0.435	B	0.28139	0.086	T	0.20107	-1.0285	10	0.12103	T	0.63	-0.2438	7.8602	0.29506	0.0:0.4332:0.1235:0.4432	.	366	O15504	NUPL2_HUMAN	K	366;391	ENSP00000258742:N366K;ENSP00000401475:N391K	ENSP00000258742:N366K	N	+	3	2	NUPL2	23206715	0.000000	0.05858	0.097000	0.21041	0.661000	0.39034	-0.039000	0.12124	-0.167000	0.10871	-0.250000	0.11733	AAT		0.463	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		A	23240190	T	A	23240190	3	1	149	1	0	0	0	0	1	0	0	0	10777	1403	49	5	1124	5	NUPL2	7	23240190	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08		23240190	135898473	43	8802											
NOD1	10392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	30486629	30486629	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:30486629A>T	ENST00000222823.4	-	8	2848	c.2323T>A	c.(2323-2325)Tac>Aac	p.Y775N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	775					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.Y775N(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTGGTGACGTACCTGGCTCCG	0.463																																																1	Substitution - Missense(1)	kidney(1)											202	179	187					7																	30486629		2203	4300	6503	SO:0001583	missense	10392			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2323T>A	7.37:g.30486629A>T	ENSP00000222823:p.Tyr775Asn		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.821279	0.71028	.	.	ENSG00000106100	ENST00000222823	T	0.52754	0.65	5.95	5.95	0.96441	.	0.215520	0.43579	D	0.000546	T	0.55847	0.1946	L	0.54323	1.7	0.80722	D	1	D	0.60160	0.987	P	0.53809	0.735	T	0.52064	-0.8625	10	0.30854	T	0.27	.	15.6048	0.76658	1.0:0.0:0.0:0.0	.	775	Q9Y239	NOD1_HUMAN	N	775	ENSP00000222823:Y775N	ENSP00000222823:Y775N	Y	-	1	0	NOD1	30453154	0.997000	0.39634	0.901000	0.35422	0.869000	0.49853	4.626000	0.61269	2.279000	0.76181	0.533000	0.62120	TAC		0.463	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			T	30486629	A	T	30486629	3	4	149	1	0	0	0	0	1	0	0	0	10518	391	14	5	566	5	NOD1	7	30486629	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	7246439	30486629	128652034	44	8803											
PSMA2	5683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	42964387	42964387	+	Silent	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:42964387C>A	ENST00000223321.4	-	4	325	c.261G>T	c.(259-261)gtG>gtT	p.V87V	PSMA2_ENST00000442788.1_Silent_p.V87V|PSMA2_ENST00000445517.1_Silent_p.V17V|PSMA2_ENST00000538645.1_Silent_p.V9V	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	87					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)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|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)	p.V87V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						GAGCTCTGTGCACAAGCACTC	0.413																																																2	Substitution - coding silent(2)	ovary(1)|kidney(1)											94	83	86					7																	42964387		2203	4300	6503	SO:0001819	synonymous_variant	5683			D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"Proteasome (prosome, macropain) subunits"	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.261G>T	7.37:g.42964387C>A			Q6ICS6|Q9BU45	Silent	SNP	ENST00000223321.4	37	CCDS5467.1																																																																																				0.413	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		A	42964387	C	A	42964387	2	1	149	1	0	0	0	0	0	0	0	1	12672	697	25	4		4	PSMA2	7	42964387	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08	12477758	42964387	116174276	45	8804											
MAGI2	9863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	79082436	79082436	+	Silent	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:79082436C>A	ENST00000354212.4	-	1	454	c.201G>T	c.(199-201)ctG>ctT	p.L67L	MAGI2_ENST00000522391.1_Silent_p.L67L|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA|MAGI2_ENST00000419488.1_Silent_p.L67L|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	67	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.L67L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CGTTCACCTCCAGCAGCAGCT	0.637																																																1	Substitution - coding silent(1)	kidney(1)											51	56	54					7																	79082436		2203	4300	6503	SO:0001819	synonymous_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.201G>T	7.37:g.79082436C>A			A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	CCDS5594.1																																																																																				0.637	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		A	79082436	C	A	79082436	2	1	149	1	0	0	0	0	0	0	0	1	9193	581	21	4		4	MAGI2	7	79082436	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08	36118049	79082436	80056227	46	8805											
C7orf63	79846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	89937153	89937153	+	Silent	SNP	C	C	T	rs558288448		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:89937153C>T	ENST00000389297.4	+	21	2786	c.2535C>T	c.(2533-2535)aaC>aaT	p.N845N	C7orf63_ENST00000316089.8_Silent_p.N799N|C7orf63_ENST00000497910.1_Silent_p.N827N	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		845								p.N799N(1)|p.N845N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GAACATCAAACGCTAAAACGT	0.343																																																2	Substitution - coding silent(2)	kidney(2)											65	64	65					7																	89937153		1840	4093	5933	SO:0001819	synonymous_variant	79846																														ENST00000389297.4:c.2535C>T	7.37:g.89937153C>T			A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	7.421	0.636675	0.14386	.	.	ENSG00000105792	ENST00000412839;ENST00000445156	.	.	.	5.17	2.82	0.32997	.	.	.	.	.	T	0.54013	0.1832	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47209	-0.9135	4	.	.	.	-21.6192	5.6758	0.17747	0.0:0.3563:0.0:0.6437	.	.	.	.	C	74;32	.	.	R	+	1	0	C7orf63	89775089	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.710000	0.25748	0.797000	0.33971	-0.295000	0.09555	CGC		0.343	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			T	89937153	C	T	89937153	2	4	149	1	0	0	0	0	0	0	0	1	2411	535	19	1		1	C7orf63	7	89937153	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08	10854717	89937153	69201510	47	8806											
ZC3HC1	51530	hgsc.bcm.edu;ucsc.edu	37	7	129663471	129663471	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:129663471delG	ENST00000358303.4	-	8	1197	c.1113delC	c.(1111-1113)cccfs	p.P371fs	RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000311873.5_Frame_Shift_Del_p.P350fs|ZC3HC1_ENST00000360708.5_Intron|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000481503.1_Frame_Shift_Del_p.P328fs	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	371					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TTCTGGTGGTGGGGCTAGCAG	0.612																																					Melanoma(115;540 1606 16325 28853 48167)											0													113	97	102					7																	129663471		2203	4300	6503	SO:0001589	frameshift_variant	51530			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.1113delC	7.37:g.129663471delG	ENSP00000351052:p.Pro371fs		A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Frame_Shift_Del	DEL	ENST00000358303.4	37	CCDS34753.1																																																																																				0.612	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		-	129663471	G	-	129663471	7	5	149	1	0	1	0	1	0	0	0	0	17582	1335	47	0	407	0	ZC3HC1	7	129663471	Frame_Shift_Del	DEL	G	TCGA-B0-4823-01A-02D-1421-08	39726318	129663471	29475192	48	8807											
ACCN3	9311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150748965	150748965	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:150748965C>T	ENST00000349064.5	+	7	1481	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	ASIC3_ENST00000297512.8_Missense_Mutation_p.A428V|ASIC3_ENST00000357922.4_Missense_Mutation_p.A428V	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	428					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.A428V(2)									CAGAAGAAGGCCTATGAGATG	0.592																																																2	Substitution - Missense(2)	kidney(2)											112	101	104					7																	150748965		2203	4300	6503	SO:0001583	missense	0			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1283C>T	7.37:g.150748965C>T	ENSP00000344838:p.Ala428Val		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	CCDS5916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	29.3|29.3	4.996635|4.996635	0.93167|0.93167	.|.	.|.	ENSG00000213199|ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512;ENST00000490540|ENST00000485929	T;T;T;T|.	0.67171|.	-0.25;-0.25;-0.25;-0.25|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.000000|.	0.37857|.	U|.	0.001905|.	T|T	0.73434|0.73434	0.3586|0.3586	M|M	0.67397|0.67397	2.05|2.05	0.51767|0.51767	D|D	0.999932|0.999932	D;D;D|.	0.89917|.	0.985;1.0;0.999|.	D;D;D|.	0.83275|.	0.945;0.994;0.996|.	T|T	0.77419|0.77419	-0.2595|-0.2595	10|6	0.72032|0.87932	D|D	0.01|0	-17.16|-17.16	15.1448|15.1448	0.72641|0.72641	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	428;428;428|.	Q9UHC3-2;Q9UHC3-3;Q9UHC3|.	.;.;ACCN3_HUMAN|.	V|S	428;428;428;59|54	ENSP00000350600:A428V;ENSP00000344838:A428V;ENSP00000297512:A428V;ENSP00000418361:A59V|.	ENSP00000297512:A428V|ENSP00000367136:P379S	A|P	+|+	2|1	0|0	ACCN3|ACCN3	150379898|150379898	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.707000|0.707000	0.40811|0.40811	4.847000|4.847000	0.62867|0.62867	2.147000|2.147000	0.66899|0.66899	0.586000|0.586000	0.80456|0.80456	GCC|CCT		0.592	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		T	150748965	C	T	150748965	3	4	149	1	0	0	0	0	1	0	0	0	130	739	26	2	1309	2	ACCN3	7	150748965	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	21085494	150748965	8389698	49	8808											
INSIG1	3638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	155094505	155094505	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr7:155094505A>G	ENST00000340368.4	+	5	964	c.753A>G	c.(751-753)atA>atG	p.I251M	INSIG1_ENST00000342407.5_Missense_Mutation_p.Y154C|INSIG1_ENST00000344756.4_Missense_Mutation_p.I99M	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	251					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.I251M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCTTGTATATTTTTCTCAG	0.418																																																1	Substitution - Missense(1)	kidney(1)											189	182	184					7																	155094505		2203	4300	6503	SO:0001583	missense	3638				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"INSIG-1 membrane protein"	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.753A>G	7.37:g.155094505A>G	ENSP00000344741:p.Ile251Met		A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	37	CCDS5938.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	21.3|21.3|21.3	4.132653|4.132653|4.132653	0.77662|0.77662|0.77662	.|.|.	.|.|.	ENSG00000186480|ENSG00000186480|ENSG00000186480	ENST00000340368;ENST00000344756|ENST00000476756|ENST00000342407	T;T|.|T	0.56776|.|0.49720	0.51;0.44|.|0.77	5.19|5.19|5.19	-4.56|-4.56|-4.56	0.03431|0.03431|0.03431	.|.|.	0.044110|0.044110|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.57975|0.57975|0.57975	0.2090|0.2090|0.2090	M|M|M	0.77820|0.77820|0.77820	2.39|2.39|2.39	0.51233|0.51233|0.51233	D|D|D	0.999918|0.999918|0.999918	D;D|.|D	0.89917|.|0.71674	0.999;1.0|.|0.998	D;D|.|P	0.91635|.|0.60173	0.983;0.999|.|0.87	T|T|T	0.66822|0.66822|0.66822	-0.5826|-0.5826|-0.5826	10|7|9	0.72032|0.07030|0.72032	D|T|D	0.01|0.85|0.01	.|.|.	8.9444|8.9444|8.9444	0.35749|0.35749|0.35749	0.4632:0.3675:0.0:0.1693|0.4632:0.3675:0.0:0.1693|0.4632:0.3675:0.0:0.1693	.|.|.	99;251|.|154	F5H6P3;O15503|.|A4D2N1	.;INSI1_HUMAN|.|.	M|V|C	251;99|160|154	ENSP00000344741:I251M;ENSP00000340010:I99M|.|ENSP00000344035:Y154C	ENSP00000344741:I251M|ENSP00000420198:I160V|ENSP00000344035:Y154C	I|I|Y	+|+|+	3|1|2	3|0|0	INSIG1|INSIG1|INSIG1	154725440|154725440|154725440	0.937000|0.937000|0.937000	0.31787|0.31787|0.31787	0.887000|0.887000|0.887000	0.34795|0.34795|0.34795	0.927000|0.927000|0.927000	0.56198|0.56198|0.56198	0.108000|0.108000|0.108000	0.15396|0.15396|0.15396	-0.524000|-0.524000|-0.524000	0.06400|0.06400|0.06400	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	ATA|ATT|TAT		0.418	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		G	155094505	A	G	155094505	3	3	149	1	0	0	0	0	1	0	0	0	7767	449	16	3	767	3	INSIG1	7	155094505	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	4345540	155094505	4044158	50	8809											
CDCA2	157313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	25325823	25325823	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:25325823C>A	ENST00000330560.3	+	6	1106	c.629C>A	c.(628-630)tCt>tAt	p.S210Y	CDCA2_ENST00000380665.3_Missense_Mutation_p.S195Y	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	210					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S210Y(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CAGAGAGACTCTGATGAAAAT	0.443																																																1	Substitution - Missense(1)	kidney(1)											95	96	96					8																	25325823		2203	4300	6503	SO:0001583	missense	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.629C>A	8.37:g.25325823C>A	ENSP00000328228:p.Ser210Tyr		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	1.384	-0.582517	0.03827	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.35236	1.32;1.32	5.06	-1.65	0.08291	.	1.455170	0.03867	N	0.274940	T	0.28732	0.0712	L	0.51422	1.61	0.09310	N	1	B;B;B	0.21452	0.037;0.056;0.056	B;B;B	0.26864	0.018;0.074;0.074	T	0.13683	-1.0500	10	0.24483	T	0.36	1.0798	0.9882	0.01451	0.1548:0.3207:0.1514:0.373	.	210;195;210	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	Y	210;195	ENSP00000328228:S210Y;ENSP00000370040:S195Y	ENSP00000328228:S210Y	S	+	2	0	CDCA2	25381740	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-0.271000	0.08572	-0.178000	0.10672	-0.291000	0.09656	TCT		0.443	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		A	25325823	C	A	25325823	3	1	149	1	0	0	0	0	1	0	0	0	3088	913	32	4	647	4	CDCA2	8	25325823	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08		25325823	121038199	51	8810											
IDO2	169355	broad.mit.edu;hgsc.bcm.edu	37	8	39836668	39836668	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:39836668G>C	ENST00000389060.4	+	3	278	c.278G>C	c.(277-279)gGt>gCt	p.G93A	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Missense_Mutation_p.G106A			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	93					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.G93A(1)|p.G106A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTCACCATGGGTTATGTCTGG	0.612																																																2	Substitution - Missense(2)	kidney(2)											32	35	34					8																	39836668		2023	4183	6206	SO:0001583	missense	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.278G>C	8.37:g.39836668G>C	ENSP00000426447:p.Gly93Ala		A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37		.	.	.	.	.	.	.	.	.	.	G	12.76	2.034699	0.35893	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.35789	1.29;1.29	5.36	5.36	0.76844	.	0.103335	0.64402	D	0.000003	T	0.37972	0.1023	N	0.21617	0.685	0.42214	D	0.991825	P	0.47677	0.899	P	0.54060	0.741	T	0.07404	-1.0774	9	.	.	.	.	14.5911	0.68365	0.0:0.0:1.0:0.0	.	106	F5H5G0	.	A	106;93	ENSP00000443432:G106A;ENSP00000426447:G93A	.	G	+	2	0	IDO2	39955825	1.000000	0.71417	0.882000	0.34594	0.438000	0.31896	7.396000	0.79891	2.533000	0.85409	0.467000	0.42956	GGT		0.612	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		C	39836668	G	C	39836668	3	2	149	1	0	0	0	0	1	0	0	0	7504	1261	44	4	331	4	IDO2	8	39836668	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	14510845	39836668	106527354	52	8811											
ANK1	286	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	41552240	41552240	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:41552240A>C	ENST00000347528.4	-	28	3280	c.3197T>G	c.(3196-3198)aTg>aGg	p.M1066R	ANK1_ENST00000396945.1_Missense_Mutation_p.M1066R|ANK1_ENST00000289734.7_Missense_Mutation_p.M1066R|ANK1_ENST00000352337.4_Missense_Mutation_p.M1066R|ANK1_ENST00000265709.8_Missense_Mutation_p.M1107R|ANK1_ENST00000396942.1_Missense_Mutation_p.M1066R|ANK1_ENST00000379758.2_Missense_Mutation_p.M1066R	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1066	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.M1066R(1)|p.M1107R(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGCCGTGACATGATCACGAA	0.597																																																2	Substitution - Missense(2)	kidney(2)											173	138	150					8																	41552240		2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3197T>G	8.37:g.41552240A>C	ENSP00000339620:p.Met1066Arg		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.45|18.45	3.627692|3.627692	0.66901|0.66901	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.1;-0.08;-0.1;-0.09;-0.12	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.047589	.|0.85682	.|D	.|0.000000	T|T	0.67608|0.67608	0.2911|0.2911	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P;D	.|0.69078	.|0.971;0.995;0.992;0.995;0.95;0.997	.|D;D;D;D;D;D	.|0.73708	.|0.922;0.948;0.922;0.91;0.922;0.981	T|T	0.72782|0.72782	-0.4189|-0.4189	5|10	.|0.87932	.|D	.|0	.|.	15.1014|15.1014	0.72279|0.72279	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1107;1066;1066;1066;1066;382	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	Q|R	387|1066;1066;1066;1066;1066;1066;1107;1066	.|ENSP00000339620:M1066R;ENSP00000289734:M1066R;ENSP00000369082:M1066R;ENSP00000380149:M1066R;ENSP00000380147:M1066R;ENSP00000309131:M1066R;ENSP00000265709:M1107R	.|ENSP00000265709:M1107R	H|M	-|-	3|2	2|0	ANK1|ANK1	41671397|41671397	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.416000|0.416000	0.31233|0.31233	7.445000|7.445000	0.80570|0.80570	2.020000|2.020000	0.59435|0.59435	0.379000|0.379000	0.24179|0.24179	CAT|ATG		0.597	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		C	41552240	A	C	41552240	3	2	149	1	0	0	0	0	1	0	0	0	620	217	8	5	2834	5	ANK1	8	41552240	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	1715572	41552240	104811782	53	8812											
CHD7	55636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	61761689	61761689	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:61761689C>A	ENST00000423902.2	+	25	5859	c.5380C>A	c.(5380-5382)Ctc>Atc	p.L1794I	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1794					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L1794I(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGACAAATCCCTCTTAATTGG	0.393																																																2	Substitution - Missense(2)	kidney(2)											201	197	198					8																	61761689		1893	4121	6014	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5380C>A	8.37:g.61761689C>A	ENSP00000392028:p.Leu1794Ile		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134087	0.77662	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.95069	-3.6	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000004	D	0.97570	0.9204	M	0.86651	2.83	0.80722	D	1	D	0.59767	0.986	D	0.65323	0.934	D	0.97744	1.0210	10	0.87932	D	0	-13.4799	20.2227	0.98327	0.0:1.0:0.0:0.0	.	1794	Q9P2D1	CHD7_HUMAN	I	1794	ENSP00000392028:L1794I	ENSP00000307304:L1794I	L	+	1	0	CHD7	61924243	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.778000	0.95560	0.650000	0.86243	CTC		0.393	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61761689	C	A	61761689	3	1	149	1	0	0	0	0	1	0	0	0	3332	681	24	4	5474	4	CHD7	8	61761689	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	20209449	61761689	84602333	54	8813											
TSNARE1	203062	broad.mit.edu	37	8	143425602	143425602	+	Missense_Mutation	SNP	G	G	T	rs534912864	byFrequency	TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:143425602G>T	ENST00000307180.3	-	4	587	c.470C>A	c.(469-471)cCc>cAc	p.P157H	TSNARE1_ENST00000524325.1_Missense_Mutation_p.P157H|TSNARE1_ENST00000520166.1_Missense_Mutation_p.P157H|TSNARE1_ENST00000519651.1_Intron	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	157					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.P157H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTGCGAGTGGGCTCGGCCTT	0.652																																																1	Substitution - Missense(1)	kidney(1)											52	53	53					8																	143425602		2203	4300	6503	SO:0001583	missense	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.470C>A	8.37:g.143425602G>T	ENSP00000303437:p.Pro157His		B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158042	0.57368	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	T;T;T	0.11821	2.74;2.74;2.74	3.64	3.64	0.41730	.	0.231783	0.21405	U	0.075066	T	0.23133	0.0559	N	0.25647	0.755	0.22684	N	0.998855	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.975;0.975;0.975	T	0.03221	-1.1059	10	0.87932	D	0	-2.0391	13.1651	0.59567	0.0:0.0:1.0:0.0	.	157;157;157	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	H	157	ENSP00000428763:P157H;ENSP00000303437:P157H;ENSP00000427770:P157H	ENSP00000303437:P157H	P	-	2	0	TSNARE1	143423509	0.328000	0.24687	0.573000	0.28510	0.773000	0.43773	1.947000	0.40293	1.741000	0.51731	0.609000	0.83330	CCC		0.652	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		T	143425602	G	T	143425602	3	4	149	1	0	0	0	0	1	0	0	0	16635	1232	43	4	1111	4	TSNARE1	8	143425602	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	81663913	143425602	2938420	55	8814											
DGAT1	8694	broad.mit.edu;hgsc.bcm.edu	37	8	145540325	145540325	+	Silent	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr8:145540325G>C	ENST00000332324.4	-	17	1632	c.1359C>G	c.(1357-1359)ggC>ggG	p.G453G	DGAT1_ENST00000527438.1_5'UTR|GS1-393G12.12_ENST00000525023.1_RNA	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	453					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)	p.G453G(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAGCTGCGTTGCCATAGTTGC	0.612																																																1	Substitution - coding silent(1)	kidney(1)											52	42	45					8																	145540325		2196	4295	6491	SO:0001819	synonymous_variant	8694			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1359C>G	8.37:g.145540325G>C			B2RWQ2|D3DWL6|Q96BB8	Silent	SNP	ENST00000332324.4	37	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.796115	0.31777	.	.	ENSG00000185000	ENST00000526479	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	T	0.64338	0.2589	.	.	.	0.80722	D	1	P	0.49090	0.919	P	0.50082	0.63	T	0.69680	-0.5080	7	0.72032	D	0.01	-30.3282	14.8306	0.70146	0.0:0.0:1.0:0.0	.	288	E9PS80	.	E	288	.	ENSP00000435883:Q288E	Q	-	1	0	DGAT1	145511133	0.999000	0.42202	1.000000	0.80357	0.692000	0.40212	0.259000	0.18405	2.368000	0.80403	0.561000	0.74099	CAA		0.612	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		C	145540325	G	C	145540325	2	2	149	1	0	0	0	0	0	0	0	1	4459	1306	46	4		4	DGAT1	8	145540325	Silent	SNP	G	TCGA-B0-4823-01A-02D-1421-08	2114723	145540325	823697	56	8815											
RMI1	80010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86616068	86616068	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:86616068G>T	ENST00000325875.3	+	3	499	c.167G>T	c.(166-168)tGg>tTg	p.W56L		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	56					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.W56L(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TTTGAGCAGTGGCTCCTTACT	0.388																																																1	Substitution - Missense(1)	kidney(1)											105	109	108					9																	86616068		2203	4300	6503	SO:0001583	missense	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.167G>T	9.37:g.86616068G>T	ENSP00000317039:p.Trp56Leu		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268283	0.59540	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.37584	1.19;1.19	5.86	5.86	0.93980	Domain of unknown function DUF1767 (1);	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.51325	-0.8720	10	0.22706	T	0.39	-0.1985	20.5632	0.99335	0.0:0.0:1.0:0.0	.	56	Q9H9A7	RMI1_HUMAN	L	56	ENSP00000402433:W56L;ENSP00000317039:W56L	ENSP00000317039:W56L	W	+	2	0	RMI1	85805888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.118000	0.89577	2.937000	0.99478	0.650000	0.86243	TGG		0.388	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		T	86616068	G	T	86616068	3	4	149	1	0	0	0	0	1	0	0	0	13401	1357	47	4	169	4	RMI1	9	86616068	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08		86616068	54597363	57	8816	71	2									
RMI1	80010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86616070	86616070	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:86616070C>T	ENST00000325875.3	+	3	501	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	57					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.L57F(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGAGCAGTGGCTCCTTACTGA	0.378																																																1	Substitution - Missense(1)	kidney(1)											105	108	107					9																	86616070		2203	4300	6503	SO:0001583	missense	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.169C>T	9.37:g.86616070C>T	ENSP00000317039:p.Leu57Phe		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255887	0.59321	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.72051	-0.62;-0.62	5.86	4.03	0.46877	Domain of unknown function DUF1767 (1);	0.000000	0.64402	D	0.000001	D	0.83963	0.5368	M	0.83953	2.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.85665	0.1291	10	0.87932	D	0	-6.6513	12.6004	0.56494	0.0:0.8666:0.0:0.1334	.	57	Q9H9A7	RMI1_HUMAN	F	57	ENSP00000402433:L57F;ENSP00000317039:L57F	ENSP00000317039:L57F	L	+	1	0	RMI1	85805890	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.776000	0.55356	0.939000	0.37446	0.650000	0.86243	CTC		0.378	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		T	86616070	C	T	86616070	3	4	149	1	0	0	0	0	1	0	0	0	13401	797	28	2	171	2	RMI1	9	86616070	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	2	86616070	54597361	58	8817	71	2									
ABCA1	19	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	107651383	107651383	+	Splice_Site	SNP	A	A	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:107651383A>T	ENST00000374736.3	-	3	554	c.160T>A	c.(160-162)Tgc>Agc	p.C54S	ABCA1_ENST00000374733.1_5'UTR|ABCA1_ENST00000423487.2_Splice_Site_p.C54S	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	54					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.C54S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTTACTTACATTCATGTTGT	0.478																																																1	Substitution - Missense(1)	kidney(1)											82	79	80					9																	107651383		2203	4300	6503	SO:0001630	splice_region_variant	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.160+1T>A	9.37:g.107651383A>T			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	A	33	5.237967	0.95240	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	D;D	0.99167	-5.51;-5.51	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.99290	0.9752	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.99305	1.0902	9	.	.	.	.	16.5319	0.84362	1.0:0.0:0.0:0.0	.	54	O95477	ABCA1_HUMAN	S	54	ENSP00000363868:C54S;ENSP00000416623:C54S	.	C	-	1	0	ABCA1	106691204	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.267000	0.95665	2.295000	0.77249	0.523000	0.50628	TGC		0.478	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Missense_Mutation	T	107651383	A	T	107651383	5	4	149	1	0	0	0	0	0	0	1	0	28	231	8	5	6817	5	ABCA1	9	107651383	Splice_Site	SNP	A	TCGA-B0-4823-01A-02D-1421-08	21035313	107651383	33562048	59	8818											
SEC16A	9919	hgsc.bcm.edu;ucsc.edu	37	9	139369004	139369006	+	In_Frame_Del	DEL	TTT	TTT	-	rs377041553		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:139369004_139369006delTTT	ENST00000371706.3	-	1	2561_2563	c.2528_2530delAAA	c.(2527-2532)caaagt>cgt	p.843_844QS>R	SEC16A_ENST00000290037.6_In_Frame_Del_p.843_844QS>R|SEC16A_ENST00000313050.7_In_Frame_Del_p.1021_1022QS>R|SEC16A_ENST00000431893.2_In_Frame_Del_p.843_844QS>R			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	843					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGGCAACACTTTGCTGAGAAGC	0.532																																																0																																										SO:0001651	inframe_deletion	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2528_2530delAAA	9.37:g.139369004_139369006delTTT	ENSP00000360771:p.Gln843_Ser844delinsArg		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	In_Frame_Del	DEL	ENST00000371706.3	37																																																																																					0.532	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		-	139369006	TTT	-	139369004	7	5	149	1	0	1	0	1	0	0	0	0	13992	1609	56	0	4129	0	SEC16A	9	139369004	In_Frame_Del	DEL	TTT	TCGA-B0-4823-01A-02D-1421-08	31717621	139369004	1844427	60	8819											
C9orf86	55684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139722995	139722995	+	Silent	SNP	G	G	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:139722995G>A	ENST00000311502.7	+	4	599	c.363G>A	c.(361-363)caG>caA	p.Q121Q	RABL6_ENST00000432842.2_Silent_p.Q83Q|RABL6_ENST00000371675.3_Silent_p.Q6Q|RABL6_ENST00000371671.4_Silent_p.Q121Q|RABL6_ENST00000371663.4_Silent_p.Q121Q|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000357466.2_Silent_p.Q121Q|MIR4292_ENST00000585012.1_RNA			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	121	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.Q199Q(1)|p.Q121Q(1)									ACGACCCCCAGGAGGTGAGTG	0.572																																																2	Substitution - coding silent(2)	kidney(2)											68	80	76					9																	139722995		1973	4150	6123	SO:0001819	synonymous_variant	0			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.363G>A	9.37:g.139722995G>A			A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	G	9.985	1.229159	0.22542	.	.	ENSG00000196642	ENST00000436380;ENST00000425121	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	T	0.69913	0.3164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69548	-0.5116	4	.	.	.	-31.1383	14.1845	0.65595	0.0:0.0:1.0:0.0	.	.	.	.	R	78;32	.	.	G	+	1	0	C9orf86	138842816	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.750000	0.38329	2.103000	0.63969	0.561000	0.74099	GGA		0.572	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		A	139722995	G	A	139722995	2	1	149	1	0	0	0	0	0	0	0	1	2504	991	35	2		2	C9orf86	9	139722995	Silent	SNP	G	TCGA-B0-4823-01A-02D-1421-08	353991	139722995	1490436	61	8820											
MAN1B1	11253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140002045	140002045	+	Silent	SNP	C	C	T	rs201933207		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr9:140002045C>T	ENST00000371589.4	+	12	1900	c.1827C>T	c.(1825-1827)cgC>cgT	p.R609R	MAN1B1_ENST00000474902.1_Silent_p.R312R|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	609					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R609R(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ACCTGTACCGCGTCACAGGGG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		18486	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											110	100	104					9																	140002045		2203	4300	6503	SO:0001819	synonymous_variant	11253			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1827C>T	9.37:g.140002045C>T			Q5VSG3|Q9BRS9|Q9Y5K7	Silent	SNP	ENST00000371589.4	37	CCDS7029.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.139	0.393868	0.11638	.	.	ENSG00000177239	ENST00000535144;ENST00000475449;ENST00000550113	D;D;D	0.89875	-2.58;-2.58;-2.58	5.19	-3.49	0.04724	.	.	.	.	.	T	0.82148	0.4974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71027	-0.4711	5	.	.	.	.	1.8002	0.03070	0.1624:0.3824:0.2481:0.207	.	.	.	.	C	583;83;47	ENSP00000441398:R583C;ENSP00000448658:R83C;ENSP00000450147:R47C	.	R	+	1	0	MAN1B1	139121866	0.002000	0.14202	0.058000	0.19502	0.644000	0.38419	-0.166000	0.09954	-0.201000	0.10284	-0.224000	0.12420	CGT		0.647	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		T	140002045	C	T	140002045	2	4	149	1	0	0	0	0	0	0	0	1	9214	755	27	1		1	MAN1B1	9	140002045	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08	279050	140002045	1211386	62	8821											
FBXO18	84893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5948166	5948166	+	Silent	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr10:5948166T>C	ENST00000362091.4	+	3	439	c.324T>C	c.(322-324)agT>agC	p.S108S	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Silent_p.S159S	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	108					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.S159S(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGGAAGGCAGTGCAGGGCCGG	0.612																																																1	Substitution - coding silent(1)	kidney(1)											40	45	43					10																	5948166		2203	4300	6503	SO:0001819	synonymous_variant	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.324T>C	10.37:g.5948166T>C			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	CCDS7072.1																																																																																				0.612	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		C	5948166	T	C	5948166	2	2	149	1	0	0	0	0	0	0	0	1	5733	1693	59	3		3	FBXO18	10	5948166	Silent	SNP	T	TCGA-B0-4823-01A-02D-1421-08		5948166	129586581	63	8822											
MYO3A	53904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26414398	26414398	+	Missense_Mutation	SNP	G	G	A	rs201181958	byFrequency	TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr10:26414398G>A	ENST00000265944.5	+	19	2141	c.1975G>A	c.(1975-1977)Gga>Aga	p.G659R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	659	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G659R(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTCACTAGAGGAGAAACAAT	0.423													G|||	6	0.00119808	0.0	0.0	5008	,	,		17572	0.0		0.0	False		,,,				2504	0.0061															1	Substitution - Missense(1)	kidney(1)											108	103	105					10																	26414398		2203	4300	6503	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1975G>A	10.37:g.26414398G>A	ENSP00000265944:p.Gly659Arg		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412567	0.96072	.	.	ENSG00000095777	ENST00000265944	D	0.86030	-2.06	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91810	0.5459	10	0.87932	D	0	.	20.2872	0.98536	0.0:0.0:1.0:0.0	.	659	Q8NEV4	MYO3A_HUMAN	R	659	ENSP00000265944:G659R	ENSP00000265944:G659R	G	+	1	0	MYO3A	26454404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.799000	0.96334	0.585000	0.79938	GGA		0.423	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		A	26414398	G	A	26414398	3	1	149	1	0	0	0	0	1	0	0	0	10078	1001	35	2	2041	2	MYO3A	10	26414398	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	20466232	26414398	109120349	64	8823											
ANKRD26	22852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	27301965	27301967	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	GTG	GTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr10:27301965_27301967delGTG	ENST00000376087.4	-	32	4962_4964	c.4797_4799delCAC	c.(4795-4800)accact>act	p.1599_1600TT>T	ANKRD26_ENST00000436985.2_In_Frame_Del_p.1615_1616TT>T|ANKRD26_ENST00000376070.3_In_Frame_Del_p.1156_1157TT>T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1598					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGTAGTGAGAGTGGTGAACAAAG	0.414																																																0																																										SO:0001651	inframe_deletion	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4797_4799delCAC	10.37:g.27301968_27301970delGTG	ENSP00000365255:p.Thr1600del		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	In_Frame_Del	DEL	ENST00000376087.4	37	CCDS41499.1																																																																																				0.414	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			-	27301967	GTG	-	27301965	7	5	149	1	0	1	0	1	0	0	0	0	654	1029	36	0	345	0	ANKRD26	10	27301965	In_Frame_Del	DEL	GTG	TCGA-B0-4823-01A-02D-1421-08	887567	27301965	108232782	65	8824											
PPRC1	23082	broad.mit.edu;hgsc.bcm.edu	37	10	103899302	103899302	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr10:103899302T>A	ENST00000278070.2	+	5	1076	c.1037T>A	c.(1036-1038)cTg>cAg	p.L346Q	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.L346Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L346Q(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGCGTAGTGCTGGAGATTGTG	0.607																																																1	Substitution - Missense(1)	kidney(1)											116	114	115					10																	103899302		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1037T>A	10.37:g.103899302T>A	ENSP00000278070:p.Leu346Gln		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.197338	0.58126	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.57907	0.37;0.37	5.94	5.94	0.96194	.	0.718839	0.12941	N	0.426605	T	0.64724	0.2624	L	0.32530	0.975	0.48288	D	0.999624	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.63941	-0.6523	10	0.87932	D	0	.	14.6395	0.68714	0.0:0.0:0.0:1.0	.	346;226;346	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Q	346	ENSP00000278070:L346Q;ENSP00000399743:L346Q	ENSP00000278070:L346Q	L	+	2	0	PPRC1	103889292	1.000000	0.71417	0.996000	0.52242	0.183000	0.23260	3.779000	0.55379	2.279000	0.76181	0.459000	0.35465	CTG		0.607	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		A	103899302	T	A	103899302	3	1	149	1	0	0	0	0	1	0	0	0	12415	1580	55	5	1055	5	PPRC1	10	103899302	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	76597337	103899302	31635445	66	8825											
SLC22A10	387775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63059039	63059039	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:63059039C>A	ENST00000332793.6	+	2	432	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.L92M|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	144						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.L144M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TTATCAGTCACTGAAATCAGT	0.468																																																1	Substitution - Missense(1)	kidney(1)											154	151	152					11																	63059039		2099	4259	6358	SO:0001583	missense	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.430C>A	11.37:g.63059039C>A	ENSP00000327569:p.Leu144Met		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011755	0.35511	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	T;T	0.79554	-1.28;-1.28	3.17	1.25	0.21368	Major facilitator superfamily domain (1);	0.405345	0.21834	U	0.068429	D	0.84696	0.5529	M	0.73962	2.25	0.09310	N	1	P;D	0.89917	0.73;1.0	B;D	0.80764	0.366;0.994	T	0.72286	-0.4338	10	0.44086	T	0.13	.	2.9094	0.05732	0.2163:0.5344:0.0:0.2492	.	92;144	E9PJB1;Q63ZE4	.;S22AA_HUMAN	M	144;92	ENSP00000327569:L144M;ENSP00000433908:L92M	ENSP00000327569:L144M	L	+	1	2	SLC22A10	62815615	0.000000	0.05858	0.001000	0.08648	0.098000	0.18820	-0.205000	0.09411	0.214000	0.20742	-0.249000	0.11873	CTG		0.468	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		A	63059039	C	A	63059039	3	1	149	1	0	0	0	0	1	0	0	0	14447	564	20	4	436	4	SLC22A10	11	63059039	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08		63059039	71947477	67	8826											
RCOR2	283248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63682222	63682222	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:63682222T>C	ENST00000301459.4	-	5	772	c.385A>G	c.(385-387)Acc>Gcc	p.T129A	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	129	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T129A(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GGGAATGGGGTGAAGTTGGCC	0.587																																																1	Substitution - Missense(1)	kidney(1)											189	197	194					11																	63682222		2201	4297	6498	SO:0001583	missense	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.385A>G	11.37:g.63682222T>C	ENSP00000301459:p.Thr129Ala		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923568	0.73213	.	.	ENSG00000167771	ENST00000301459	T	0.47869	0.83	4.75	4.75	0.60458	ELM2 domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.65498	2.005	0.58432	D	0.999998	P	0.38473	0.633	B	0.26969	0.075	T	0.47623	-0.9103	10	0.45353	T	0.12	.	13.5509	0.61732	0.0:0.0:0.0:1.0	.	129	Q8IZ40	RCOR2_HUMAN	A	129	ENSP00000301459:T129A	ENSP00000301459:T129A	T	-	1	0	RCOR2	63438798	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.118000	0.64673	1.897000	0.54924	0.459000	0.35465	ACC		0.587	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		C	63682222	T	C	63682222	3	2	149	1	0	0	0	0	1	0	0	0	13189	1696	59	3	1218	3	RCOR2	11	63682222	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	623183	63682222	71324294	68	8827											
PRDX5	25824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64088367	64088367	+	Missense_Mutation	SNP	T	T	G	rs372183360		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:64088367T>G	ENST00000265462.4	+	4	597	c.469T>G	c.(469-471)Ttt>Gtt	p.F157V	TRMT112_ENST00000544844.1_5'Flank|PRDX5_ENST00000347941.4_Missense_Mutation_p.F68V|PRDX5_ENST00000352435.4_Missense_Mutation_p.F113V	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	157	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.		F -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)	p.F157L(1)|p.F157V(1)		breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CACTGGGGCCTTTGGGAAGGT	0.577																																																2	Substitution - Missense(2)	breast(1)|kidney(1)						T	VAL/PHE,VAL/PHE,VAL/PHE	0,4402		0,0,2201	124	141	136		469,337,202	4.7	1	11		136	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	PRDX5	NM_012094.4,NM_181651.2,NM_181652.2	50,50,50	0,1,6497	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	157/215,113/171,68/126	64088367	1,12995	2201	4297	6498	SO:0001583	missense	25824			AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"antioxidant enzyme B166", "thioredoxin peroxidase PMP20", "peroxisomal antioxidant enzyme", "TPx type VI", "liver tissue 2D-page spot 71B", "Alu co-repressor 1"	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.469T>G	11.37:g.64088367T>G	ENSP00000265462:p.Phe157Val		A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Missense_Mutation	SNP	ENST00000265462.4	37	CCDS8069.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962158	0.74016	0.0	1.16E-4	ENSG00000126432	ENST00000265462;ENST00000352435;ENST00000347941	T;T;T	0.56776	0.44;0.58;0.51	4.66	4.66	0.58398	Redoxin (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.998	D;D;D	0.87578	0.992;0.998;0.967	T	0.75682	-0.3233	10	0.87932	D	0	-8.0883	7.2715	0.26260	0.0:0.0999:0.0:0.9001	.	68;113;157	A6NC19;A6NG06;P30044	.;.;PRDX5_HUMAN	V	157;113;68	ENSP00000265462:F157V;ENSP00000335334:F113V;ENSP00000335363:F68V	ENSP00000265462:F157V	F	+	1	0	PRDX5	63844943	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.141000	0.50593	1.887000	0.54652	0.529000	0.55759	TTT		0.577	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401148.1	NM_181651		G	64088367	T	G	64088367	3	3	149	1	0	0	0	0	1	0	0	0	12473	1609	56	5	483	5	PRDX5	11	64088367	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	406145	64088367	70918149	69	8828											
CCDC88B	283234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64111946	64111946	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:64111946G>T	ENST00000356786.5	+	14	1977	c.1933G>T	c.(1933-1935)Ggc>Tgc	p.G645C	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	645						membrane (GO:0016020)		p.G645C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGACAGGAGGGCCCTGAGCA	0.652																																																1	Substitution - Missense(1)	kidney(1)											23	28	26					11																	64111946		2196	4297	6493	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1933G>T	11.37:g.64111946G>T	ENSP00000349238:p.Gly645Cys		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	16.52	3.145377	0.57044	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.22743	1.94	3.72	2.77	0.32553	.	.	.	.	.	T	0.15089	0.0364	N	0.19112	0.55	0.80722	D	1	P;B;P	0.45283	0.855;0.008;0.855	B;B;B	0.44163	0.443;0.015;0.443	T	0.03403	-1.1040	9	0.51188	T	0.08	.	8.8638	0.35274	0.1234:0.0:0.8766:0.0	.	645;294;645	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	C	645	ENSP00000349238:G645C	ENSP00000349238:G645C	G	+	1	0	CCDC88B	63868522	0.585000	0.26774	0.138000	0.22173	0.283000	0.27025	1.153000	0.31676	0.828000	0.34709	0.299000	0.19835	GGC		0.652	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		T	64111946	G	T	64111946	3	4	149	1	0	0	0	0	1	0	0	0	2866	1232	43	4	1987	4	CCDC88B	11	64111946	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	23579	64111946	70894570	70	8829											
MMP12	4321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	102742668	102742668	+	RNA	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:102742668G>C	ENST00000532855.1	-	0	461							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T122R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	CATGTCAGGTGTGTAATTATT	0.378																																																1	Substitution - Missense(1)	kidney(1)											60	59	59					11																	102742668		1907	4130	6037			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742668G>C			B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37																																																																																					0.378	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		C	102742668	G	C	102742668	1	2	149	0	1	0	0	0	0	0	0	0	9653	1377	48	4		4	MMP12	11	102742668	RNA	SNP	G	TCGA-B0-4823-01A-02D-1421-08	38630722	102742668	32263848	71	8830											
CARD17	440068	hgsc.bcm.edu;ucsc.edu	37	11	104971490	104971490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:104971490delC	ENST00000375707.1	-	2	40	c.24delG	c.(22-24)gagfs	p.E8fs	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	8	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						GCTTTCTCTTCTCCTTCAGGA	0.448																																																0													206	193	198					11																	104971490		2202	4299	6501	SO:0001589	frameshift_variant	440068				CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"Inhibitory CARD"	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.24delG	11.37:g.104971490delC	ENSP00000364859:p.Glu8fs			Frame_Shift_Del	DEL	ENST00000375707.1	37	CCDS31662.1																																																																																				0.448	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		-	104971490	C	-	104971490	7	5	149	1	0	1	0	1	0	0	0	0	2650	912	32	0	316	0	CARD17	11	104971490	Frame_Shift_Del	DEL	C	TCGA-B0-4823-01A-02D-1421-08	2228822	104971490	30035026	72	8831											
ZW10	9183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	113607443	113607443	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr11:113607443G>T	ENST00000200135.3	-	15	2262	c.2118C>A	c.(2116-2118)aaC>aaA	p.N706K		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	706					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.N706K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GATATTTCTTGTTCTTGCTTT	0.393																																																1	Substitution - Missense(1)	kidney(1)											323	297	306					11																	113607443		2201	4296	6497	SO:0001583	missense	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.2118C>A	11.37:g.113607443G>T	ENSP00000200135:p.Asn706Lys		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213219	0.39102	.	.	ENSG00000086827	ENST00000200135	T	0.44083	0.93	6.03	0.323	0.15893	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.56769	1.78	0.58432	D	0.999998	B	0.24317	0.101	B	0.20384	0.029	T	0.17684	-1.0361	10	0.12103	T	0.63	-19.2355	12.0956	0.53752	0.4283:0.0:0.5717:0.0	.	706	O43264	ZW10_HUMAN	K	706	ENSP00000200135:N706K	ENSP00000200135:N706K	N	-	3	2	ZW10	113112653	0.978000	0.34361	0.999000	0.59377	0.997000	0.91878	0.183000	0.16919	0.141000	0.18875	0.655000	0.94253	AAC		0.393	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		T	113607443	G	T	113607443	3	4	149	1	0	0	0	0	1	0	0	0	18252	1368	48	4	229	4	ZW10	11	113607443	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	8635953	113607443	21399073	73	8832											
A2ML1	144568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9000255	9000255	+	Silent	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:9000255C>A	ENST00000299698.7	+	15	1974	c.1794C>A	c.(1792-1794)gtC>gtA	p.V598V	A2ML1_ENST00000539547.1_Silent_p.V107V|A2ML1_ENST00000540049.1_3'UTR	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.V598V(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATGAGAGTGTCTTACTGCTTA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											102	101	101					12																	9000255		1966	4158	6124	SO:0001819	synonymous_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1794C>A	12.37:g.9000255C>A				Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.587	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		A	9000255	C	A	9000255	2	1	149	1	0	0	0	0	0	0	0	1	5	900	32	4		4	A2ML1	12	9000255	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08		9000255	124851640	74	8833											
PZP	5858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9316306	9316306	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:9316306C>G	ENST00000261336.2	-	21	2722	c.2694G>C	c.(2692-2694)gaG>gaC	p.E898D	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Intron	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	898					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E898D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTCTTTTAATCTCAGGGACCT	0.433																																					Melanoma(125;1402 1695 4685 34487 38571)											1	Substitution - Missense(1)	kidney(1)											118	106	110					12																	9316306		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2694G>C	12.37:g.9316306C>G	ENSP00000261336:p.Glu898Asp		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	4.277	0.050636	0.08243	.	.	ENSG00000126838	ENST00000261336	T	0.32753	1.44	3.85	-0.237	0.13061	.	0.113870	0.37437	U	0.002092	T	0.28400	0.0702	M	0.66378	2.025	0.31511	N	0.663571	P	0.41420	0.749	B	0.40741	0.339	T	0.29488	-1.0010	10	0.35671	T	0.21	.	8.2071	0.31463	0.0:0.4236:0.0:0.5764	.	898	P20742	PZP_HUMAN	D	898	ENSP00000261336:E898D	ENSP00000261336:E898D	E	-	3	2	PZP	9207573	0.000000	0.05858	0.048000	0.18961	0.275000	0.26752	-2.103000	0.01341	-0.170000	0.10816	-0.373000	0.07131	GAG		0.433	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		G	9316306	C	G	9316306	3	3	149	1	0	0	0	0	1	0	0	0	12875	912	32	4	1818	4	PZP	12	9316306	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	316051	9316306	124535589	75	8834											
PLBD1	79887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14689601	14689601	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:14689601T>A	ENST00000240617.5	-	5	1254	c.602A>T	c.(601-603)gAt>gTt	p.D201V		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	201					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.D201V(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						ATCCAATAGATCTCCAACACT	0.438																																																1	Substitution - Missense(1)	kidney(1)											157	143	147					12																	14689601		2203	4300	6503	SO:0001583	missense	79887			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.602A>T	12.37:g.14689601T>A	ENSP00000240617:p.Asp201Val		A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558080	0.65538	.	.	ENSG00000121316	ENST00000240617	T	0.28069	1.63	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78727	-0.2091	10	0.87932	D	0	-20.9302	13.8006	0.63196	0.0:0.0:0.0:1.0	.	201	Q6P4A8	PLBL1_HUMAN	V	201	ENSP00000240617:D201V	ENSP00000240617:D201V	D	-	2	0	PLBD1	14580868	1.000000	0.71417	0.917000	0.36280	0.161000	0.22273	6.923000	0.75817	2.247000	0.74100	0.482000	0.46254	GAT		0.438	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		A	14689601	T	A	14689601	3	1	149	1	0	0	0	0	1	0	0	0	12027	1435	50	5	1087	5	PLBD1	12	14689601	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	5373295	14689601	119162294	76	8835											
ACVR1B	91	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52374824	52374824	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:52374824T>A	ENST00000257963.4	+	4	729	c.652T>A	c.(652-654)Ttt>Att	p.F218I	ACVR1B_ENST00000415850.2_Missense_Mutation_p.F218I|ACVR1B_ENST00000541224.1_Missense_Mutation_p.F218I|ACVR1B_ENST00000426655.2_Missense_Mutation_p.F218I|ACVR1B_ENST00000542485.1_Missense_Mutation_p.F166I	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.F218I(2)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CAAGGGTCGGTTTGGGGAAGT	0.507											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(2)											71	73	72					12																	52374824		2203	4300	6503	SO:0001583	missense	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.652T>A	12.37:g.52374824T>A	ENSP00000257963:p.Phe218Ile	984	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	T	34	5.354863	0.95854	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	H	0.94620	3.56	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.995;0.997	D;D;P;D	0.74674	0.984;0.963;0.865;0.943	D	0.99218	1.0878	10	0.87932	D	0	.	15.2561	0.73585	0.0:0.0:0.0:1.0	.	218;218;218;218	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	I	218;218;218;218;166	ENSP00000257963:F218I;ENSP00000442656:F218I;ENSP00000390477:F218I;ENSP00000397550:F218I;ENSP00000442885:F166I	ENSP00000257963:F218I	F	+	1	0	ACVR1B	50661091	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.040000	0.89188	2.074000	0.62210	0.528000	0.53228	TTT		0.507	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		A	52374824	T	A	52374824	3	1	149	1	0	0	0	0	1	0	0	0	221	1725	60	5	666	5	ACVR1B	12	52374824	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	37685223	52374824	81477071	77	8836											
KRT74	121391	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52967395	52967395	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:52967395T>A	ENST00000305620.2	-	1	214	c.167A>T	c.(166-168)aAt>aTt	p.N56I	KRT74_ENST00000549343.1_Missense_Mutation_p.N56I	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	56	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.N56I(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		AATACGCCGATTCCCTCCAAG	0.622																																																1	Substitution - Missense(1)	kidney(1)											54	59	57					12																	52967395		2203	4300	6503	SO:0001583	missense	121391			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.167A>T	12.37:g.52967395T>A	ENSP00000307240:p.Asn56Ile		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	T	4.912	0.169550	0.09339	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.19394	2.15;2.15	4.41	-1.35	0.09114	.	0.418775	0.17691	N	0.165258	T	0.13841	0.0335	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.19224	-1.0312	10	0.49607	T	0.09	.	1.414	0.02298	0.1481:0.3099:0.3039:0.2382	.	56	Q7RTS7	K2C74_HUMAN	I	56	ENSP00000447447:N56I;ENSP00000307240:N56I	ENSP00000307240:N56I	N	-	2	0	KRT74	51253662	0.000000	0.05858	0.002000	0.10522	0.097000	0.18754	-0.925000	0.03992	-0.014000	0.14175	0.459000	0.35465	AAT		0.622	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		A	52967395	T	A	52967395	3	1	149	1	0	0	0	0	1	0	0	0	8489	1493	52	5	1458	5	KRT74	12	52967395	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08	592571	52967395	80884500	78	8837	72	2									
KRT74	121391	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52967397	52967397	+	Silent	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:52967397C>A	ENST00000305620.2	-	1	212	c.165G>T	c.(163-165)ggG>ggT	p.G55G	KRT74_ENST00000549343.1_Silent_p.G55G	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	55	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.G55G(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TACGCCGATTCCCTCCAAGGC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											54	59	57					12																	52967397		2203	4300	6503	SO:0001819	synonymous_variant	121391			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.165G>T	12.37:g.52967397C>A			B5MD61|Q86Y45	Silent	SNP	ENST00000305620.2	37	CCDS8832.1																																																																																				0.627	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		A	52967397	C	A	52967397	2	1	149	1	0	0	0	0	0	0	0	1	8489	842	30	4		4	KRT74	12	52967397	Silent	SNP	C	TCGA-B0-4823-01A-02D-1421-08	2	52967397	80884498	79	8838	72	2									
TENC1	23371	broad.mit.edu;ucsc.edu	37	12	53453510	53453510	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:53453510G>C	ENST00000314250.6	+	18	2375	c.2085G>C	c.(2083-2085)gaG>gaC	p.E695D	TENC1_ENST00000549700.1_Missense_Mutation_p.E695D|TENC1_ENST00000546602.1_Missense_Mutation_p.E695D|TENC1_ENST00000314276.3_Missense_Mutation_p.E705D|TENC1_ENST00000552570.1_Missense_Mutation_p.E695D|TENC1_ENST00000379902.3_Missense_Mutation_p.E571D|TENC1_ENST00000451358.1_Intron	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	695					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.E695D(1)|p.E705D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCTGCGAGGAGAAGCTGGCGC	0.662																																																2	Substitution - Missense(2)	kidney(2)											37	36	37					12																	53453510		2203	4297	6500	SO:0001583	missense	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2085G>C	12.37:g.53453510G>C	ENSP00000319684:p.Glu695Asp		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	7.931	0.740693	0.15642	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D	0.94497	-3.43;-3.43;-3.43;-3.42;-3.43;-3.44	4.54	1.74	0.24563	.	0.254563	0.33610	N	0.004735	D	0.90188	0.6933	N	0.19112	0.55	0.80722	D	1	D;D;P;D	0.56287	0.958;0.958;0.93;0.975	P;P;P;P	0.53062	0.681;0.681;0.482;0.717	D	0.84840	0.0807	10	0.25751	T	0.34	.	6.9122	0.24340	0.2835:0.0:0.7165:0.0	.	695;695;695;705	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	D	571;705;695;695;695;695	ENSP00000369232:E571D;ENSP00000319756:E705D;ENSP00000319684:E695D;ENSP00000449363:E695D;ENSP00000447021:E695D;ENSP00000449361:E695D	ENSP00000319684:E695D	E	+	3	2	TENC1	51739777	0.996000	0.38824	1.000000	0.80357	0.523000	0.34469	1.167000	0.31847	0.277000	0.22141	-1.008000	0.02478	GAG		0.662	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		C	53453510	G	C	53453510	3	2	149	1	0	0	0	0	1	0	0	0	15763	933	33	4	2264	4	TENC1	12	53453510	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	486113	53453510	80398385	80	8839											
PRR13	54458	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53837461	53837461	+	Silent	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:53837461A>G	ENST00000429243.2	+	3	514	c.306A>G	c.(304-306)gcA>gcG	p.A102A	PRR13_ENST00000549924.1_Silent_p.A102A|PRR13_ENST00000549581.1_Silent_p.A52A|PRR13_ENST00000551003.1_Silent_p.A70A|PRR13_ENST00000549135.1_Silent_p.A102A|PRR13_ENST00000379786.4_Silent_p.A52A|PRR13_ENST00000549068.1_Missense_Mutation_p.S44G|PCBP2_ENST00000541275.1_5'UTR|PRR13_ENST00000546581.1_Splice_Site|PRR13_ENST00000549740.1_Silent_p.A102A|RP11-793H13.8_ENST00000547717.1_RNA|PRR13_ENST00000547368.1_Silent_p.A116A	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A102A(1)|p.A52A(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						TTGGACCAGCAGTGATAGTAG	0.517																																																2	Substitution - coding silent(2)	kidney(2)											53	48	50					12																	53837461		2203	4300	6503	SO:0001819	synonymous_variant	54458			AF217517	CCDS31811.1, CCDS44899.1	12q13.13	2014-05-28			ENSG00000205352	ENSG00000205352			24528	protein-coding gene	gene with protein product		610459				11230166	Standard	NM_018457		Approved	FLJ23818, DKFZP564J157	uc001scz.4	Q9NZ81	OTTHUMG00000170049	ENST00000429243.2:c.306A>G	12.37:g.53837461A>G			Q0V8U0|Q6FIG7|Q6MZP8|Q6NXQ6|Q6PKF9	Silent	SNP	ENST00000429243.2	37	CCDS44899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.105|0.105	-1.146864|-1.146864	0.01714|0.01714	.|.	.|.	ENSG00000205352|ENSG00000205352	ENST00000546581|ENST00000549068	.|.	.|.	.|.	4.04|4.04	-0.0182|-0.0182	0.13965|0.13965	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27933	.|0.0688	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.36311	.|-0.9753	.|5	.|0.87932	.|D	.|0	.|5.217	0.7208|0.7208	0.00940|0.00940	0.3818:0.1746:0.1043:0.3392|0.3818:0.1746:0.1043:0.3392	.|.	.|.	.|.	.|.	.|G	-1|44	.|.	.|ENSP00000449513:S44G	.|S	+|+	.|1	.|0	PRR13|PRR13	52123728|52123728	0.844000|0.844000	0.29557|0.29557	0.002000|0.002000	0.10522|0.10522	0.009000|0.009000	0.06853|0.06853	0.008000|0.008000	0.13197|0.13197	0.216000|0.216000	0.20781|0.20781	-0.250000|-0.250000	0.11733|0.11733	.|AGT		0.517	PRR13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407055.1	NM_018457		G	53837461	A	G	53837461	2	3	149	1	0	0	0	0	0	0	0	1	12590	175	7	3		3	PRR13	12	53837461	Silent	SNP	A	TCGA-B0-4823-01A-02D-1421-08	383951	53837461	80014434	81	8840											
MON2	23041	hgsc.bcm.edu;ucsc.edu	37	12	62892790	62892790	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:62892790delT	ENST00000393632.2	+	5	918	c.527delT	c.(526-528)gttfs	p.V176fs	MON2_ENST00000552115.1_Frame_Shift_Del_p.V176fs|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000546600.1_Frame_Shift_Del_p.V176fs|MON2_ENST00000280379.6_Frame_Shift_Del_p.V176fs|MON2_ENST00000393630.3_Frame_Shift_Del_p.V176fs|MON2_ENST00000393629.2_Frame_Shift_Del_p.V176fs|MON2_ENST00000552738.1_Frame_Shift_Del_p.V176fs	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	176					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GTTACTGTTGTTTTTGAGAGG	0.368																																																0													250	239	243					12																	62892790		2203	4300	6503	SO:0001589	frameshift_variant	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.527delT	12.37:g.62892790delT	ENSP00000377252:p.Val176fs		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Frame_Shift_Del	DEL	ENST00000393632.2	37	CCDS31849.1																																																																																				0.368	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		-	62892790	T	-	62892790	7	5	149	1	0	1	0	1	0	0	0	0	9702	1725	60	0	545	0	MON2	12	62892790	Frame_Shift_Del	DEL	T	TCGA-B0-4823-01A-02D-1421-08	9055329	62892790	70959105	82	8841											
LTA4H	4048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96421288	96421288	+	Silent	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr12:96421288A>G	ENST00000228740.2	-	3	486	c.345T>C	c.(343-345)gcT>gcC	p.A115A	LTA4H_ENST00000413268.2_Silent_p.A91A|LTA4H_ENST00000552789.1_Silent_p.A91A|RP11-256L6.2_ENST00000547346.1_RNA	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	115				A -> T (in Ref. 6; BX647158). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A115A(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GCCACTGGAGAGCAGAAGATT	0.373																																																1	Substitution - coding silent(1)	kidney(1)											74	77	76					12																	96421288		2203	4300	6503	SO:0001819	synonymous_variant	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.345T>C	12.37:g.96421288A>G			B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Silent	SNP	ENST00000228740.2	37	CCDS9059.1																																																																																				0.373	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		G	96421288	A	G	96421288	2	3	149	1	0	0	0	0	0	0	0	1	9071	291	11	3		3	LTA4H	12	96421288	Silent	SNP	A	TCGA-B0-4823-01A-02D-1421-08	33528498	96421288	37430607	83	8842											
ZMYM2	7750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	20567391	20567391	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr13:20567391T>A	ENST00000382874.2	+	4	369	c.179T>A	c.(178-180)gTt>gAt	p.V60D	ZMYM2_ENST00000382881.3_Missense_Mutation_p.V60D|ZMYM2_ENST00000382869.3_Missense_Mutation_p.V60D|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V60D	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	60					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.V60D(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GATGATGATGTTGTTTTTATC	0.383																																																2	Substitution - Missense(2)	kidney(2)											110	103	105					13																	20567391		1964	4170	6134	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.179T>A	13.37:g.20567391T>A	ENSP00000372327:p.Val60Asp		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881121	0.72294	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.16	5.16	0.70880	.	0.000000	0.49305	D	0.000146	T	0.53318	0.1789	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.47156	-0.9139	10	0.13853	T	0.58	-0.3003	15.2831	0.73806	0.0:0.0:0.0:1.0	.	60;60;60	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	D	60	ENSP00000372322:V60D;ENSP00000372334:V60D;ENSP00000372327:V60D;ENSP00000372324:V60D	ENSP00000372322:V60D	V	+	2	0	ZMYM2	19465391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.100000	0.71473	2.069000	0.61940	0.533000	0.62120	GTT		0.383	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		A	20567391	T	A	20567391	3	1	149	1	0	0	0	0	1	0	0	0	17705	1725	60	5	181	5	ZMYM2	13	20567391	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08		20567391	94602487	84	8843											
GRTP1	79774	broad.mit.edu;ucsc.edu	37	13	114018185	114018185	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr13:114018185C>A	ENST00000375431.4	-	2	147	c.73G>T	c.(73-75)Gac>Tac	p.D25Y	GRTP1_ENST00000375430.4_Missense_Mutation_p.D25Y|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1_ENST00000476439.1_5'UTR	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	25							Rab GTPase activator activity (GO:0005097)	p.D25Y(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TAGGCGGCGTCGTCGAAGTCC	0.662																																																1	Substitution - Missense(1)	kidney(1)											27	32	31					13																	114018185		1901	4104	6005	SO:0001583	missense	79774			AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.73G>T	13.37:g.114018185C>A	ENSP00000364580:p.Asp25Tyr		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	ENST00000375431.4	37	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.301498	0.01364	.	.	ENSG00000139835	ENST00000375431;ENST00000375430	T;T	0.11712	2.95;2.75	4.29	3.11	0.35812	.	0.069328	0.64402	N	0.000013	T	0.01421	0.0046	N	0.00017	-2.83	0.27476	N	0.952722	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39941	-0.9589	10	0.08837	T	0.75	.	9.2612	0.37614	0.8069:0.193:0.0:0.0	.	25;25	B9A6K2;Q5TC63	.;GRTP1_HUMAN	Y	25	ENSP00000364580:D25Y;ENSP00000364579:D25Y	ENSP00000364579:D25Y	D	-	1	0	GRTP1	113066186	1.000000	0.71417	0.300000	0.25030	0.015000	0.08874	4.107000	0.57811	0.608000	0.30000	-0.516000	0.04426	GAC		0.662	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		A	114018185	C	A	114018185	3	1	149	1	0	0	0	0	1	0	0	0	6812	884	31	4	965	4	GRTP1	13	114018185	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	93450794	114018185	1151693	85	8844											
MYH6	4624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23872974	23872974	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr14:23872974C>T	ENST00000356287.3	-	8	778	c.749G>A	c.(748-750)aGg>aAg	p.R250K	MYH6_ENST00000405093.3_Missense_Mutation_p.R250K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	250	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R250K(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AAAGTGGATCCTAATGAATTT	0.577																																																1	Substitution - Missense(1)	kidney(1)											44	39	40					14																	23872974		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.749G>A	14.37:g.23872974C>T	ENSP00000348634:p.Arg250Lys		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.406063	0.83230	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.71103	-0.54;-0.54	3.54	3.54	0.40534	Myosin head, motor domain (3);	.	.	.	.	D	0.82536	0.5058	M	0.78801	2.425	0.45005	D	0.998025	B;B	0.28971	0.229;0.229	P;P	0.50490	0.642;0.642	D	0.85224	0.1028	9	0.87932	D	0	.	15.2521	0.73556	0.0:1.0:0.0:0.0	.	250;250	D9YZU2;P13533	.;MYH6_HUMAN	K	250	ENSP00000386041:R250K;ENSP00000348634:R250K	ENSP00000348634:R250K	R	-	2	0	MYH6	22942814	0.976000	0.34144	1.000000	0.80357	0.729000	0.41735	5.561000	0.67339	1.979000	0.57680	0.462000	0.41574	AGG		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			T	23872974	C	T	23872974	3	4	149	1	0	0	0	0	1	0	0	0	10040	681	24	2	5194	2	MYH6	14	23872974	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08		23872974	83476566	86	8845											
SIX6	4990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	60977812	60977812	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr14:60977812C>G	ENST00000327720.5	+	2	1031	c.583C>G	c.(583-585)Cag>Gag	p.Q195E		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	195					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.Q195E(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		ACTCCAGCAGCAGGTCCTGTC	0.711																																																1	Substitution - Missense(1)	kidney(1)											15	16	16					14																	60977812		2173	4255	6428	SO:0001583	missense	4990			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.583C>G	14.37:g.60977812C>G	ENSP00000328596:p.Gln195Glu		Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095899	0.56075	.	.	ENSG00000184302	ENST00000327720	D	0.91011	-2.77	5.39	5.39	0.77823	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	L	0.48642	1.525	0.80722	D	1	B	0.25521	0.128	B	0.25987	0.065	T	0.82123	-0.0613	10	0.07644	T	0.81	.	18.3173	0.90225	0.0:1.0:0.0:0.0	.	195	O95475	SIX6_HUMAN	E	195	ENSP00000328596:Q195E	ENSP00000328596:Q195E	Q	+	1	0	SIX6	60047565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.434000	0.80377	2.791000	0.96007	0.655000	0.94253	CAG		0.711	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			G	60977812	C	G	60977812	3	3	149	1	0	0	0	0	1	0	0	0	14357	711	25	4	589	4	SIX6	14	60977812	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	37104838	60977812	46371728	87	8846											
ENTPD5	957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74454758	74454758	+	Silent	SNP	A	A	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr14:74454758A>G	ENST00000334696.6	-	4	367	c.48T>C	c.(46-48)tgT>tgC	p.C16C	ENTPD5_ENST00000557325.1_Silent_p.C16C|ENTPD5_ENST00000556242.1_Silent_p.C16C|ENTPD5_ENST00000554664.1_5'Flank	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	16					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)	p.C16C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CGCTGCAAACACAGGATACCA	0.522																																																1	Substitution - coding silent(1)	kidney(1)											89	72	78					14																	74454758		2203	4300	6503	SO:0001819	synonymous_variant	957			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"proto-oncogene CPH"	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.48T>C	14.37:g.74454758A>G			A1L4C5|Q96RX0	Silent	SNP	ENST00000334696.6	37	CCDS9825.1																																																																																				0.522	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		G	74454758	A	G	74454758	2	3	149	1	0	0	0	0	0	0	0	1	5144	157	6	3		3	ENTPD5	14	74454758	Silent	SNP	A	TCGA-B0-4823-01A-02D-1421-08	13476946	74454758	32894782	88	8847											
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	105416511	105416511	+	Silent	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr14:105416511G>C	ENST00000333244.5	-	7	5396	c.5277C>G	c.(5275-5277)ccC>ccG	p.P1759P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1759						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P1759P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTCCATCTGGGGGCCCTTGA	0.667																																																1	Substitution - coding silent(1)	kidney(1)											93	106	102					14																	105416511		1817	4038	5855	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5277C>G	14.37:g.105416511G>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.667	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105416511	G	C	105416511	2	2	149	1	0	0	0	0	0	0	0	1	415	1219	43	4		4	AHNAK2	14	105416511	Silent	SNP	G	TCGA-B0-4823-01A-02D-1421-08	30961753	105416511	1933029	89	8848											
MTA1	9112	broad.mit.edu	37	14	105930474	105930474	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr14:105930474G>C	ENST00000331320.7	+	13	1396	c.1182G>C	c.(1180-1182)gaG>gaC	p.E394D	MTA1_ENST00000405646.1_Missense_Mutation_p.E377D|MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000406191.1_Missense_Mutation_p.E394D	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	394					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E394D(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GGGCCTGCGAGAGCTGTTACA	0.692																																																1	Substitution - Missense(1)	kidney(1)											27	33	31					14																	105930474		2198	4296	6494	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1182G>C	14.37:g.105930474G>C	ENSP00000333633:p.Glu394Asp		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182330	0.78677	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050	D;D;D;D	0.99548	-6.14;-6.14;-6.14;-6.14	4.61	3.57	0.40892	Zinc finger, GATA-type (2);	0.000000	0.85682	D	0.000000	D	0.99366	0.9777	M	0.84082	2.675	0.80722	D	1	P;D	0.56287	0.891;0.975	P;D	0.67382	0.84;0.951	D	0.99848	1.1068	10	0.87932	D	0	-39.3703	3.5463	0.07829	0.3685:0.0:0.6315:0.0	.	186;394	Q59FW1;Q13330	.;MTA1_HUMAN	D	303;394;394;377;186	ENSP00000333633:E394D;ENSP00000385702:E394D;ENSP00000384180:E377D;ENSP00000394106:E186D	ENSP00000333633:E394D	E	+	3	2	MTA1	105001519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.817000	0.39002	2.113000	0.64589	0.563000	0.77884	GAG		0.692	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			C	105930474	G	C	105930474	3	2	149	1	0	0	0	0	1	0	0	0	9910	933	33	4	1232	4	MTA1	14	105930474	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	513963	105930474	1419066	90	8849											
PSMA4	5685	broad.mit.edu	37	15	78838990	78838990	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr15:78838990T>G	ENST00000044462.7	+	8	731	c.581T>G	c.(580-582)aTc>aGc	p.I194S	PSMA4_ENST00000559082.1_Missense_Mutation_p.I194S|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000413382.2_Missense_Mutation_p.I123S|PSMA4_ENST00000558094.1_Intron|PSMA4_ENST00000558281.1_Intron|PSMA4_ENST00000560217.1_Missense_Mutation_p.I163S	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	194					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)	cytoplasmic mRNA processing body (GO:0000932)|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)	p.I194S(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTTTAGCTATCAAAGTACTA	0.348																																																1	Substitution - Missense(1)	kidney(1)											104	103	104					15																	78838990		2196	4293	6489	SO:0001583	missense	5685			BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"Proteasome (prosome, macropain) subunits"	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.581T>G	15.37:g.78838990T>G	ENSP00000044462:p.Ile194Ser		D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.982305	0.93044	.	.	ENSG00000041357	ENST00000413382;ENST00000044462	T;T	0.22743	1.94;1.94	6.02	6.02	0.97574	.	0.110661	0.64402	D	0.000004	T	0.49423	0.1556	M	0.86953	2.85	0.80722	D	1	D	0.65815	0.995	P	0.59115	0.852	T	0.57728	-0.7761	10	0.87932	D	0	-15.278	16.5446	0.84426	0.0:0.0:0.0:1.0	.	194	P25789	PSA4_HUMAN	S	123;194	ENSP00000402118:I123S;ENSP00000044462:I194S	ENSP00000044462:I194S	I	+	2	0	PSMA4	76626045	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.809000	0.86057	2.311000	0.77944	0.533000	0.62120	ATC		0.348	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		G	78838990	T	G	78838990	3	3	149	1	0	0	0	0	1	0	0	0	12674	1435	50	5	607	5	PSMA4	15	78838990	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08		78838990	23692402	91	8850											
ALPK3	57538	broad.mit.edu;ucsc.edu	37	15	85360311	85360311	+	Silent	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr15:85360311G>T	ENST00000258888.5	+	1	401	c.234G>T	c.(232-234)ggG>ggT	p.G78G		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	78					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G78G(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGGTCCCGGGAGCTCCACGA	0.726																																																2	Substitution - coding silent(2)	kidney(2)											7	9	8					15																	85360311		2141	4223	6364	SO:0001819	synonymous_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.234G>T	15.37:g.85360311G>T			Q9P2L6	Silent	SNP	ENST00000258888.5	37	CCDS10333.1																																																																																				0.726	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		T	85360311	G	T	85360311	2	4	149	1	0	0	0	0	0	0	0	1	546	1161	41	4		4	ALPK3	15	85360311	Silent	SNP	G	TCGA-B0-4823-01A-02D-1421-08	6521321	85360311	17171081	92	8851											
PRC1	9055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91517903	91517903	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr15:91517903A>T	ENST00000361188.5	-	10	2473	c.1262T>A	c.(1261-1263)tTt>tAt	p.F421Y	Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.F380Y|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.F421Y|PRC1_ENST00000394249.3_Missense_Mutation_p.F421Y|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1									p.F421Y(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATTCACCATAAATGCCTTTGA	0.423																																																1	Substitution - Missense(1)	kidney(1)											398	349	366					15																	91517903		2198	4298	6496	SO:0001583	missense	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1262T>A	15.37:g.91517903A>T	ENSP00000354679:p.Phe421Tyr			Missense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248504	0.80024	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87473	0.2415	10	0.87932	D	0	-22.2588	15.6824	0.77381	1.0:0.0:0.0:0.0	.	380;421;421	O43663-3;F8W9B5;O43663	.;.;PRC1_HUMAN	Y	421;421;421;24;380	ENSP00000377793:F421Y;ENSP00000354618:F421Y;ENSP00000354679:F421Y;ENSP00000409549:F380Y	ENSP00000354679:F421Y	F	-	2	0	PRC1	89318907	1.000000	0.71417	0.808000	0.32385	0.180000	0.23129	8.220000	0.89772	2.367000	0.80283	0.528000	0.53228	TTT		0.423	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		T	91517903	A	T	91517903	3	4	149	1	0	0	0	0	1	0	0	0	12451	14	1	5	624	5	PRC1	15	91517903	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	6157592	91517903	11013489	93	8852											
ABCC11	85320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	48256589	48256589	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr16:48256589T>A	ENST00000394747.1	-	5	1046	c.697A>T	c.(697-699)Agg>Tgg	p.R233W	ABCC11_ENST00000394748.1_Missense_Mutation_p.R233W|ABCC11_ENST00000353782.5_Missense_Mutation_p.R233W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R233W|ABCC11_ENST00000537808.1_Missense_Mutation_p.R233W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	233	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.R233W(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GCTCGGAACCTGATGGCTGTG	0.493																																																1	Substitution - Missense(1)	kidney(1)											123	113	116					16																	48256589		2201	4300	6501	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.697A>T	16.37:g.48256589T>A	ENSP00000378230:p.Arg233Trp		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298227	0.40694	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.77	3.62	0.41486	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	M	0.80422	2.495	0.20403	N	0.999907	D;P	0.89917	1.0;0.754	D;P	0.91635	0.999;0.615	D	0.88906	0.3356	10	0.87932	D	0	.	9.1046	0.36689	0.0:0.0:0.2563:0.7437	.	233;233	Q96J66-2;Q96J66	.;ABCCB_HUMAN	W	233	ENSP00000311326:R233W;ENSP00000349017:R233W;ENSP00000378231:R233W;ENSP00000378230:R233W;ENSP00000438530:R233W	ENSP00000311326:R233W	R	-	1	2	ABCC11	46814090	0.000000	0.05858	0.008000	0.14137	0.155000	0.21991	-0.078000	0.11375	0.590000	0.29694	0.460000	0.39030	AGG		0.493	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48256589	T	A	48256589	3	1	149	1	0	0	0	0	1	0	0	0	51	1579	55	5	3551	5	ABCC11	16	48256589	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08		48256589	42098164	94	8853											
NLRC5	84166	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57104485	57104485	+	Missense_Mutation	SNP	C	C	G	rs377644369		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr16:57104485C>G	ENST00000262510.6	+	38	4847	c.4622C>G	c.(4621-4623)gCg>gGg	p.A1541G	NLRC5_ENST00000308149.7_Missense_Mutation_p.A1512G|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1512G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1541					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.A1541G(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGCACCAAGGCGCTGATGAGG	0.557																																																1	Substitution - Missense(1)	kidney(1)											154	126	135					16																	57104485		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4622C>G	16.37:g.57104485C>G	ENSP00000262510:p.Ala1541Gly		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705171	0.68615	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.69435	-0.4;-0.4;-0.4	4.21	-0.836	0.10770	.	.	.	.	.	T	0.38161	0.1030	N	0.20766	0.605	0.09310	N	1	P	0.43578	0.811	B	0.33521	0.165	T	0.25222	-1.0138	9	0.21540	T	0.41	.	3.1407	0.06455	0.1911:0.2867:0.0:0.5222	.	1541	Q86WI3	NLRC5_HUMAN	G	1541;1512;1512	ENSP00000262510:A1541G;ENSP00000308886:A1512G;ENSP00000441727:A1512G	ENSP00000262510:A1541G	A	+	2	0	NLRC5	55661986	0.004000	0.15560	0.002000	0.10522	0.592000	0.36648	-1.051000	0.03507	-0.168000	0.10853	0.579000	0.79373	GCG		0.557	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		G	57104485	C	G	57104485	3	3	149	1	0	0	0	0	1	0	0	0	10472	768	27	4	4764	4	NLRC5	16	57104485	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	8847896	57104485	33250268	95	8854											
DUS2L	54920	hgsc.bcm.edu;ucsc.edu	37	16	68112666	68112666	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr16:68112666A>C	ENST00000565263.1	+	17	1753	c.1259A>C	c.(1258-1260)aAa>aCa	p.K420T	DUS2_ENST00000358896.6_Missense_Mutation_p.K420T|DUS2_ENST00000432752.1_Missense_Mutation_p.K385T|RP11-67A1.2_ENST00000548144.1_RNA	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	420	DRBM.				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)										AAGTCCAAGAAACTGGCGGAG	0.602																																																0													25	28	27					16																	68112666		2188	4285	6473	SO:0001583	missense	54920				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.1259A>C	16.37:g.68112666A>C	ENSP00000455229:p.Lys420Thr		A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739817	0.89573	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	D;D	0.86562	-2.14;-2.14	5.39	5.39	0.77823	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.95281	0.8469	H	0.95712	3.71	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.994	D	0.96430	0.9318	10	0.87932	D	0	-22.9279	13.6682	0.62409	1.0:0.0:0.0:0.0	.	385;420	E7EUN9;Q9NX74	.;DUS2L_HUMAN	T	420;385	ENSP00000351769:K420T;ENSP00000409498:K385T	ENSP00000351769:K420T	K	+	2	0	DUS2L	66670167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.452000	0.90346	2.049000	0.60858	0.533000	0.62120	AAA		0.602	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		C	68112666	A	C	68112666	3	2	149	1	0	0	0	0	1	0	0	0	4808	14	1	5	1317	5	DUS2L	16	68112666	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	11008181	68112666	22242087	96	8855											
PLA2G15	23659	broad.mit.edu;hgsc.bcm.edu	37	16	68283194	68283194	+	Splice_Site	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr16:68283194C>T	ENST00000219345.5	+	2	212	c.129C>T	c.(127-129)gtC>gtT	p.V43V	PLA2G15_ENST00000568599.1_3'UTR|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000566188.1_Splice_Site_p.V43V|PLA2G15_ENST00000413021.2_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	43					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)	p.V43V(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCCCTGCAGTCCCTGGTGATT	0.557																																																1	Substitution - coding silent(1)	kidney(1)											74	55	62					16																	68283194		2198	4300	6498	SO:0001630	splice_region_variant	23659			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.128-1C>T	16.37:g.68283194C>T			B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	CCDS10864.1																																																																																				0.557	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320	Silent	T	68283194	C	T	68283194	5	4	149	1	0	0	0	0	0	0	1	0	11994	869	30	2	135	2	PLA2G15	16	68283194	Splice_Site	SNP	C	TCGA-B0-4823-01A-02D-1421-08	170528	68283194	22071559	97	8856											
PIGL	9487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	16120578	16120578	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:16120578T>C	ENST00000225609.5	+	1	55	c.38T>C	c.(37-39)gTc>gCc	p.V13A	PIGL_ENST00000395844.4_Missense_Mutation_p.V13A|PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000581006.1_Missense_Mutation_p.V13A|NCOR1_ENST00000268712.3_5'Flank|PIGL_ENST00000498772.2_Missense_Mutation_p.V13A	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	13					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)	p.V13A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GCGTTGGCGGTCTTGGCATGG	0.617																																																1	Substitution - Missense(1)	kidney(1)											115	97	103					17																	16120578		2203	4300	6503	SO:0001583	missense	9487			AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"Phosphatidylinositol glycan anchor biosynthesis"	8966	protein-coding gene	gene with protein product	"N-acetylglucosaminylphosphatidylinositol deacetylase"	605947	"phosphatidylinositol glycan, class L"			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.38T>C	17.37:g.16120578T>C	ENSP00000225609:p.Val13Ala		A8KA67|B4DYN4	Missense_Mutation	SNP	ENST00000225609.5	37	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.324784	0.24080	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	T;T	0.78126	-1.07;-1.15	5.22	0.175	0.15045	.	0.904510	0.09371	N	0.811322	T	0.63534	0.2519	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46527	-0.9185	10	0.27785	T	0.31	-6.2874	7.746	0.28869	0.0:0.3813:0.0:0.6187	.	13;13	B4DYN4;Q9Y2B2	.;PIGL_HUMAN	A	13	ENSP00000225609:V13A;ENSP00000379185:V13A	ENSP00000225609:V13A	V	+	2	0	PIGL	16061303	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	0.050000	0.14120	0.025000	0.15241	0.533000	0.62120	GTC		0.617	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			C	16120578	T	C	16120578	3	2	149	1	0	0	0	0	1	0	0	0	11893	1667	58	3	40	3	PIGL	17	16120578	Missense_Mutation	SNP	T	TCGA-B0-4823-01A-02D-1421-08		16120578	65074632	98	8857											
THRA	7067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38243108	38243108	+	Splice_Site	SNP	T	T	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:38243108T>A	ENST00000264637.4	+	7	1303		c.e7+2		THRA_ENST00000546243.1_Splice_Site|THRA_ENST00000394121.4_Splice_Site|THRA_ENST00000450525.2_Splice_Site|THRA_ENST00000584985.1_Splice_Site	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha						cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTCCGAGGTGAGTGGCAGA	0.567											OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Unknown(2)	kidney(2)											130	101	111					17																	38243108		2203	4300	6503	SO:0001630	splice_region_variant	7067			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.723+2T>A	17.37:g.38243108T>A		876	A8K3B5|P21205|Q8N6A1|Q96H73	Splice_Site	SNP	ENST00000264637.4	37	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.192559	0.58017	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3566	0.60631	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	THRA	35496634	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	7.842000	0.86851	1.963000	0.57068	0.477000	0.44152	.		0.567	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2		Intron	A	38243108	T	A	38243108	5	1	149	1	0	0	0	0	0	0	1	0	15878	1710	59	5	747	5	THRA	17	38243108	Splice_Site	SNP	T	TCGA-B0-4823-01A-02D-1421-08	22122530	38243108	42952102	99	8858											
STAT3	6774	broad.mit.edu;hgsc.bcm.edu	37	17	40476790	40476790	+	Silent	SNP	G	G	A	rs1064115		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:40476790G>A	ENST00000264657.5	-	17	1851	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	STAT3_ENST00000404395.3_Silent_p.S513S|STAT3_ENST00000588969.1_Silent_p.S513S|STAT3_ENST00000389272.3_Silent_p.S415S|STAT3_ENST00000585517.1_Silent_p.S513S	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	513					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S513S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGGTGGTGGAGGAGAACTGCC	0.542									Hyperimmunoglobulin E Recurrent Infection Syndrome																																							1	Substitution - coding silent(1)	kidney(1)											86	80	82					17																	40476790		2203	4300	6503	SO:0001819	synonymous_variant	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1539C>T	17.37:g.40476790G>A			A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	ENST00000264657.5	37	CCDS32656.1																																																																																				0.542	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		A	40476790	G	A	40476790	2	1	149	1	0	0	0	0	0	0	0	1	15271	987	35	2		2	STAT3	17	40476790	Silent	SNP	G	TCGA-B0-4823-01A-02D-1421-08	2233682	40476790	40718420	100	8859											
FMNL1	752	broad.mit.edu;hgsc.bcm.edu	37	17	43318890	43318890	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:43318890C>A	ENST00000331495.3	+	14	1810	c.1474C>A	c.(1474-1476)Ctg>Atg	p.L492M	FMNL1_ENST00000328118.3_Missense_Mutation_p.L492M|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.L70M|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	492	Pro-rich.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.L492M(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AATCCGTATTCTGCGGGGGCC	0.692																																					GBM(164;1247 1997 8702 11086 51972)											1	Substitution - Missense(1)	kidney(1)											14	8	10					17																	43318890		2041	4053	6094	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1474C>A	17.37:g.43318890C>A	ENSP00000329219:p.Leu492Met		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700791	0.30142	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.79749	-1.3;-1.3	3.73	0.576	0.17380	.	0.354761	0.25798	N	0.028224	T	0.75057	0.3798	L	0.34521	1.04	0.09310	N	1	D	0.61080	0.989	P	0.53809	0.735	T	0.66244	-0.5972	10	0.46703	T	0.11	.	7.0291	0.24956	0.0:0.6758:0.0:0.3242	.	492	O95466	FMNL_HUMAN	M	492;492;210	ENSP00000327442:L492M;ENSP00000329219:L492M	ENSP00000327442:L492M	L	+	1	2	FMNL1	40674673	0.039000	0.19947	0.693000	0.30195	0.788000	0.44548	0.731000	0.26058	-0.014000	0.14175	-0.481000	0.04817	CTG		0.692	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		A	43318890	C	A	43318890	3	1	149	1	0	0	0	0	1	0	0	0	5953	912	32	4	1528	4	FMNL1	17	43318890	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	2842100	43318890	37876320	101	8860											
SAMD14	201191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48191795	48191795	+	Intron	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:48191795G>T	ENST00000330175.4	-	8	1140				SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Missense_Mutation_p.L278M	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14									p.L278M(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GCATGAGCCAGGAGCTGGGCC	0.587																																																1	Substitution - Missense(1)	kidney(1)											45	38	40					17																	48191795		2203	4300	6503	SO:0001627	intron_variant	201191				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.823-125C>A	17.37:g.48191795G>T			A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393533	0.25205	.	.	ENSG00000167100	ENST00000503131	.	.	.	3.75	1.58	0.23477	.	3.951410	0.01119	U	0.005753	T	0.32912	0.0845	.	.	.	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.21314	-1.0249	8	0.48119	T	0.1	4.657	6.1982	0.20561	0.0:0.2092:0.5749:0.2158	.	278	Q8IZD0-2	.	M	278	.	ENSP00000424474:L278M	L	-	1	2	SAMD14	45546794	0.000000	0.05858	0.279000	0.24732	0.374000	0.29953	-0.200000	0.09478	0.315000	0.23110	0.561000	0.74099	CTG		0.587	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		T	48191795	G	T	48191795	1	4	149	0	1	0	0	0	0	0	0	0	13825	991	35	4		4	SAMD14	17	48191795	Intron	SNP	G	TCGA-B0-4823-01A-02D-1421-08	4872905	48191795	33003415	102	8861											
BPTF	2186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65909128	65909128	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr17:65909128A>T	ENST00000321892.4	+	13	5567	c.5506A>T	c.(5506-5508)Aaa>Taa	p.K1836*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.K1836*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.K1710*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.K1697*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1836					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K1710*(1)|p.K1836*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCCTATAGAAAATTTGTTAC	0.403																																																2	Substitution - Nonsense(2)	kidney(2)											79	77	78					17																	65909128		2203	4300	6503	SO:0001587	stop_gained	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5506A>T	17.37:g.65909128A>T	ENSP00000315454:p.Lys1836*		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	A	45	11.517457	0.99570	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3491	16.2002	0.82067	1.0:0.0:0.0:0.0	.	.	.	.	X	1710;1836;1836	.	ENSP00000307208:K1710X	K	+	1	0	BPTF	63339590	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.285000	0.76669	0.528000	0.53228	AAA		0.403	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65909128	A	T	65909128	4	4	149	1	0	0	0	0	0	1	0	0	1497	15	1	5	5556	5	BPTF	17	65909128	Nonsense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	17717333	65909128	15286082	103	8862											
CDH2	1000	hgsc.bcm.edu	37	18	25570227	25570228	+	Frame_Shift_Ins	INS	-	-	C	rs1628684	byFrequency	TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr18:25570227_25570228insC	ENST00000269141.3	-	10	1854_1855	c.1431_1432insG	c.(1429-1434)ccccctfs	p.P478fs	CDH2_ENST00000399380.3_Frame_Shift_Ins_p.P447fs	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	478	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTGACTGAGGGGGGTGCTGAA	0.426																																																0										71,4193		0,71,2061						6.2	1			92	51,8203		0,51,4076	no	frameshift	CDH2	NM_001792.3		0,122,6137	A1A1,A1R,RR		0.6179,1.6651,0.9746				122,12396				SO:0001589	frameshift_variant	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1431_1432insG	18.37:g.25570227_25570228insC	ENSP00000269141:p.Pro478fs		A8MWK3|B0YIY6|Q14923|Q8N173	Frame_Shift_Ins	INS	ENST00000269141.3	37	CCDS11891.1																																																																																				0.426	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		C	25570228	-	C	25570227	7	5	149	1	0	1	1	0	0	0	0	0	3107	1232	43	0	1316	0	CDH2	18	25570227	Frame_Shift_Ins	INS	-	TCGA-B0-4823-01A-02D-1421-08		25570227	52507021	104	8863											
ASXL3	80816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	31311969	31311969	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr18:31311969C>G	ENST00000269197.5	+	9	917	c.917C>G	c.(916-918)gCt>gGt	p.A306G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A13G(1)|p.A306G(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGTACTTCAGCTCTAAATAAT	0.373																																																2	Substitution - Missense(2)	kidney(2)											136	127	130					18																	31311969		1882	4107	5989	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.917C>G	18.37:g.31311969C>G	ENSP00000269197:p.Ala306Gly		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228461	0.95173	.	.	ENSG00000141431	ENST00000269197	T	0.34472	1.36	6.04	6.04	0.98038	.	0.305920	0.31542	N	0.007473	T	0.59335	0.2186	L	0.55213	1.73	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	T	0.55451	-0.8139	10	0.59425	D	0.04	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	306	Q9C0F0	ASXL3_HUMAN	G	306	ENSP00000269197:A306G	ENSP00000269197:A306G	A	+	2	0	ASXL3	29565967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.109000	0.77062	2.873000	0.98535	0.563000	0.77884	GCT		0.373	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			G	31311969	C	G	31311969	3	3	149	1	0	0	0	0	1	0	0	0	1068	797	28	4	951	4	ASXL3	18	31311969	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	5741742	31311969	46765279	105	8864											
CELF4	56853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	34833794	34833794	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr18:34833794C>G	ENST00000591282.1	-	12	1440	c.1441G>C	c.(1441-1443)Gac>Cac	p.D481H	CELF4_ENST00000601019.1_Missense_Mutation_p.D479H|CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000361795.5_Missense_Mutation_p.D479H|CELF4_ENST00000591287.1_Missense_Mutation_p.D479H|CELF4_ENST00000603232.1_Missense_Mutation_p.D480H|CELF4_ENST00000412753.1_Missense_Mutation_p.D480H|CELF4_ENST00000334919.5_Missense_Mutation_p.D443H|CELF4_ENST00000420428.2_Missense_Mutation_p.D481H			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	481					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.D481H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CGATTGGCGTCTTTGGGCCGC	0.701																																																1	Substitution - Missense(1)	kidney(1)											59	58	58					18																	34833794		2203	4300	6503	SO:0001583	missense	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1441G>C	18.37:g.34833794C>G	ENSP00000464794:p.Asp481His		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083021	0.94050	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T	0.07114	3.22;3.22	4.11	4.11	0.48088	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	L	0.37507	1.11	0.80722	D	1	D;D;D;D	0.89917	0.996;0.998;0.99;1.0	D;D;D;D	0.71184	0.952;0.957;0.947;0.972	T	0.02121	-1.1210	10	0.87932	D	0	-11.2026	16.6199	0.84927	0.0:1.0:0.0:0.0	.	479;443;479;481	Q9BZC1-3;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;CELF4_HUMAN	H	481;480;479;443	ENSP00000406823:D480H;ENSP00000335631:D443H	ENSP00000335631:D443H	D	-	1	0	CELF4	33087792	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.635000	0.67841	2.137000	0.66172	0.473000	0.43528	GAC		0.701	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		G	34833794	C	G	34833794	3	3	149	1	0	0	0	0	1	0	0	0	3220	913	32	4	23	4	CELF4	18	34833794	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	3521825	34833794	43243454	106	8865											
ZNF77	58492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2934740	2934740	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr19:2934740G>C	ENST00000314531.4	-	4	477	c.385C>G	c.(385-387)Ctt>Gtt	p.L129V		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L129V(1)|p.L129fs*11(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACAAGAAGGTTCGCAGTC	0.493																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|kidney(1)											139	126	130					19																	2934740		2203	4300	6503	SO:0001583	missense	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.385C>G	19.37:g.2934740G>C	ENSP00000319053:p.Leu129Val		Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	G	6.267	0.417464	0.11870	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.26957	1.7	2.58	1.53	0.23141	.	.	.	.	.	T	0.37019	0.0988	L	0.60957	1.885	0.09310	N	1	D	0.65815	0.995	P	0.58721	0.844	T	0.11372	-1.0590	9	0.56958	D	0.05	.	6.8324	0.23917	0.1504:0.0:0.8496:0.0	.	129	Q15935	ZNF77_HUMAN	V	21;129	ENSP00000319053:L129V	ENSP00000319053:L129V	L	-	1	0	ZNF77	2885740	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	0.866000	0.27954	0.427000	0.26145	0.491000	0.48974	CTT		0.493	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		C	2934740	G	C	2934740	3	2	149	1	0	0	0	0	1	0	0	0	18147	1000	35	4	1256	4	ZNF77	19	2934740	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08		2934740	56194243	107	8866											
SMARCA4	6597	hgsc.bcm.edu;ucsc.edu	37	19	11100029	11100030	+	In_Frame_Ins	INS	-	-	GAA	rs201099398		TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr19:11100029_11100030insGAA	ENST00000429416.3	+	8	1436_1437	c.1155_1156insGAA	c.(1156-1158)gaa>GAAgaa	p.386_386E>EE	SMARCA4_ENST00000589677.1_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000444061.3_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000358026.2_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000413806.3_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000590574.1_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000541122.2_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000450717.3_In_Frame_Ins_p.386_386E>EE|SMARCA4_ENST00000344626.4_In_Frame_Ins_p.386_386E>EE	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	386					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCAGGAACTTGAAAACCTTCC	0.604			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)																																								SO:0001652	inframe_insertion	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1156_1158dupGAA	19.37:g.11100030_11100032dupGAA	ENSP00000395654:p.Glu386dup		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Ins	INS	ENST00000429416.3	37	CCDS12253.1																																																																																				0.604	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		GAA	11100030	-	GAA	11100029	7	5	149	1	0	1	1	0	0	0	0	0	14776	1799	63	0	1177	0	SMARCA4	19	11100029	In_Frame_Ins	INS	-	TCGA-B0-4823-01A-02D-1421-08	8165289	11100029	48028954	108	8867											
CHERP	84167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	16634081	16634081	+	IGR	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr19:16634081G>T	ENST00000221671.3	+	0	3427				CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.H599N|CHERP_ENST00000546361.2_Missense_Mutation_p.H588N	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44									p.H588N(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGGCCAGGGTGGTGGTGAGGG	0.652																																																1	Substitution - Missense(1)	kidney(1)											46	57	54					19																	16634081		2074	4217	6291	SO:0001628	intergenic_variant	10523			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16634081G>T			Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491607	0.64074	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.22945	1.93;1.94	5.09	5.09	0.68999	.	.	.	.	.	T	0.34193	0.0889	L	0.47716	1.5	0.54753	D	0.999983	D	0.53885	0.963	P	0.53006	0.715	T	0.03043	-1.1079	9	0.13853	T	0.58	-30.9534	17.4823	0.87675	0.0:0.0:1.0:0.0	.	588	Q8IWX8	CHERP_HUMAN	N	588;599	ENSP00000439856:H588N;ENSP00000198939:H599N	ENSP00000198939:H599N	H	-	1	0	CHERP	16495081	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.022000	0.93678	2.377000	0.81083	0.561000	0.74099	CAC		0.652	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		T	16634081	G	T	16634081	1	4	149	0	1	0	0	0	0	0	0	0	3338	1348	47	4		4	CHERP	19	16634081	IGR	SNP	G	TCGA-B0-4823-01A-02D-1421-08	5534052	16634081	42494902	109	8868											
SIGLEC1	6614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3677901	3677901	+	Silent	SNP	G	G	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:3677901G>C	ENST00000344754.4	-	9	2210	c.2211C>G	c.(2209-2211)ggC>ggG	p.G737G	SIGLEC1_ENST00000202578.4_Silent_p.G737G	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	737	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G737G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TAGCAGGGCTGCCAGCAGCTT	0.617																																																1	Substitution - coding silent(1)	kidney(1)											88	83	85					20																	3677901		2203	4300	6503	SO:0001819	synonymous_variant	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2211C>G	20.37:g.3677901G>C			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1																																																																																				0.617	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		C	3677901	G	C	3677901	2	2	149	1	0	0	0	0	0	0	0	1	14311	1306	46	4		4	SIGLEC1	20	3677901	Silent	SNP	G	TCGA-B0-4823-01A-02D-1421-08		3677901	59347619	110	8869											
HCK	3055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30671834	30671834	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:30671834G>A	ENST00000520553.1	+	7	853	c.607G>A	c.(607-609)Gac>Aac	p.D203N	HCK_ENST00000538448.1_Missense_Mutation_p.D203N|HCK_ENST00000534862.1_Missense_Mutation_p.D204N|HCK_ENST00000518730.1_Missense_Mutation_p.D202N|HCK_ENST00000375862.2_Missense_Mutation_p.D223N|HCK_ENST00000375852.2_Missense_Mutation_p.D224N	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	224	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D203N(1)|p.D224N(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GGAGCTGGTGGACCACTACAA	0.597																																																2	Substitution - Missense(2)	kidney(2)											46	44	45					20																	30671834		2203	4300	6503	SO:0001583	missense	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.607G>A	20.37:g.30671834G>A	ENSP00000429848:p.Asp203Asn		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170974	0.38315	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78	5.0	1.79	0.24919	SH2 motif (5);	0.562880	0.18569	N	0.137383	T	0.13114	0.0318	N	0.11818	0.18	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20140	-1.0284	10	0.48119	T	0.1	.	8.1797	0.31302	0.1534:0.4589:0.3877:0.0	.	202;224	P08631-3;P08631	.;HCK_HUMAN	N	204;203;223;203;202;224	ENSP00000444986:D204N;ENSP00000441169:D203N;ENSP00000365022:D223N;ENSP00000429848:D203N;ENSP00000427757:D202N;ENSP00000365012:D224N	ENSP00000365012:D224N	D	+	1	0	HCK	30135495	0.415000	0.25416	0.993000	0.49108	0.957000	0.61999	1.025000	0.30090	0.694000	0.31654	0.555000	0.69702	GAC		0.597	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			A	30671834	G	A	30671834	3	1	149	1	0	0	0	0	1	0	0	0	6996	1174	41	2	702	2	HCK	20	30671834	Missense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	26993933	30671834	32353686	111	8870											
DNMT3B	1789	hgsc.bcm.edu;ucsc.edu	37	20	31386266	31386266	+	Splice_Site	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:31386266G>T	ENST00000328111.2	+	15	1812	c.1491G>T	c.(1489-1491)cgG>cgT	p.R497R	DNMT3B_ENST00000344505.4_Splice_Site_p.R477R|DNMT3B_ENST00000201963.3_Splice_Site_p.R489R|DNMT3B_ENST00000353855.2_Splice_Site_p.R477R|DNMT3B_ENST00000348286.2_Splice_Site_p.R477R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Splice_Site_p.R435R|DNMT3B_ENST00000456297.2_Splice_Site_p.R401R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	497	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.R489R(1)|p.R497R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGGTCCAGGTGTTTCTGTG	0.612																																																2	Substitution - coding silent(2)	kidney(2)											40	43	42					20																	31386266		2203	4300	6503	SO:0001630	splice_region_variant	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1491-1G>T	20.37:g.31386266G>T			A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	CCDS13205.1																																																																																				0.612	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	Silent	T	31386266	G	T	31386266	5	4	149	1	0	0	0	0	0	0	1	0	4679	1275	44	4	1585	4	DNMT3B	20	31386266	Splice_Site	SNP	G	TCGA-B0-4823-01A-02D-1421-08	714432	31386266	31639254	112	8871											
MAP1LC3A	84557	broad.mit.edu;hgsc.bcm.edu	37	20	33147238	33147238	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:33147238G>T	ENST00000360668.3	+	3	945	c.184G>T	c.(184-186)Gag>Tag	p.E62*	MAP1LC3A_ENST00000374837.3_Nonsense_Mutation_p.E66*|MAP1LC3A_ENST00000397709.1_Nonsense_Mutation_p.E62*|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	62					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)	p.E66*(1)		cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CAACATGAGCGAGTTGGTCAA	0.642																																																1	Substitution - Nonsense(1)	kidney(1)											46	44	45					20																	33147238		2200	4297	6497	SO:0001587	stop_gained	84557				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.184G>T	20.37:g.33147238G>T	ENSP00000353886:p.Glu62*		E1P5P4|E1P5P5|Q9BXW5	Nonsense_Mutation	SNP	ENST00000360668.3	37	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	G	37	6.065572	0.97251	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	.	.	.	5.08	5.08	0.68730	.	0.045827	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.0995	18.0581	0.89369	0.0:0.0:1.0:0.0	.	.	.	.	X	66;62;62	.	ENSP00000353886:E62X	E	+	1	0	MAP1LC3A	32610899	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.927000	0.87577	2.357000	0.79964	0.313000	0.20887	GAG		0.642	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509		T	33147238	G	T	33147238	4	4	149	1	0	0	0	0	0	1	0	0	9232	1059	37	4	250	4	MAP1LC3A	20	33147238	Nonsense_Mutation	SNP	G	TCGA-B0-4823-01A-02D-1421-08	1760972	33147238	29878282	113	8872											
SLC32A1	140679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37356752	37356752	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:37356752C>T	ENST00000217420.1	+	2	1311	c.1048C>T	c.(1048-1050)Ctc>Ttc	p.L350F		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	350					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.L350F(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGCCTGCGTGCTCAAGGGCCT	0.617																																																1	Substitution - Missense(1)	kidney(1)											71	63	66					20																	37356752		2203	4300	6503	SO:0001583	missense	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1048C>T	20.37:g.37356752C>T	ENSP00000217420:p.Leu350Phe		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	8.999	0.979629	0.18812	.	.	ENSG00000101438	ENST00000217420	T	0.02974	4.09	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.02380	0.0073	N	0.10972	0.075	0.80722	D	1	B	0.23442	0.085	B	0.29440	0.102	T	0.61068	-0.7137	10	0.24483	T	0.36	-28.0493	15.0612	0.71955	0.0:1.0:0.0:0.0	.	350	Q9H598	VIAAT_HUMAN	F	350	ENSP00000217420:L350F	ENSP00000217420:L350F	L	+	1	0	SLC32A1	36790166	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.756000	0.85195	2.239000	0.73571	0.462000	0.41574	CTC		0.617	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		T	37356752	C	T	37356752	3	4	149	1	0	0	0	0	1	0	0	0	14571	797	28	2	1054	2	SLC32A1	20	37356752	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08	4209514	37356752	25668768	114	8873											
RNF114	55905	hgsc.bcm.edu;ucsc.edu	37	20	48561952	48561952	+	Missense_Mutation	SNP	A	A	G	rs143932352	byFrequency	TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr20:48561952A>G	ENST00000244061.2	+	3	327	c.325A>G	c.(325-327)Act>Gct	p.T109A		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	109					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T109A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CCACGTGGCTACTTGTTCCAA	0.458																																																1	Substitution - Missense(1)	kidney(1)											161	130	140					20																	48561952		2203	4300	6503	SO:0001583	missense	55905			AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"RING-type (C3HC4) zinc fingers"	13094	protein-coding gene	gene with protein product		612451	"zinc finger protein 313"	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.325A>G	20.37:g.48561952A>G	ENSP00000244061:p.Thr109Ala		B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080430	0.36662	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	T	0.80480	-1.38	5.97	3.59	0.41128	.	0.343160	0.35291	N	0.003308	T	0.56949	0.2020	N	0.05230	-0.09	0.23903	N	0.996517	B;B	0.18461	0.028;0.001	B;B	0.17979	0.02;0.004	T	0.41787	-0.9489	10	0.25751	T	0.34	0.1336	5.4995	0.16821	0.5885:0.0:0.0816:0.3299	.	109;109	Q9Y508-2;Q9Y508	.;RN114_HUMAN	A	109	ENSP00000244061:T109A	ENSP00000244061:T109A	T	+	1	0	RNF114	47995359	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	1.240000	0.32731	1.039000	0.40074	0.477000	0.44152	ACT		0.458	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	NM_018683		G	48561952	A	G	48561952	3	3	149	1	0	0	0	0	1	0	0	0	13435	391	14	3	335	3	RNF114	20	48561952	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08	11205200	48561952	14463568	115	8874											
KRTAP10-4	386672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	45993662	45993662	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr21:45993662C>G	ENST00000400374.3	+	1	57	c.27C>G	c.(25-27)agC>agG	p.S9R	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'UTR	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	9						keratin filament (GO:0045095)		p.S9R(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCGACCTGAGCTACAGCAGCC	0.652																																																1	Substitution - Missense(1)	kidney(1)											79	99	92					21																	45993662		2176	4275	6451	SO:0001583	missense	386672			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.27C>G	21.37:g.45993662C>G	ENSP00000383225:p.Ser9Arg		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	16.16	3.043124	0.55003	.	.	ENSG00000215454	ENST00000400374	T	0.01152	5.26	4.38	4.38	0.52667	.	.	.	.	.	T	0.05914	0.0154	M	0.78456	2.415	0.19575	N	0.999966	D	0.71674	0.998	D	0.75484	0.986	T	0.17137	-1.0379	9	0.87932	D	0	.	8.3137	0.32086	0.0:0.8891:0.0:0.1109	.	9	P60372	KR104_HUMAN	R	9	ENSP00000383225:S9R	ENSP00000383225:S9R	S	+	3	2	KRTAP10-4	44818090	0.398000	0.25279	0.985000	0.45067	0.741000	0.42261	1.421000	0.34815	1.968000	0.57251	0.484000	0.47621	AGC		0.652	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		G	45993662	C	G	45993662	3	3	149	1	0	0	0	0	1	0	0	0	8513	796	28	4	29	4	KRTAP10-4	21	45993662	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08		45993662	2136233	116	8875											
FBXO7	25793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32875201	32875201	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chr22:32875201A>C	ENST00000266087.7	+	2	683	c.356A>C	c.(355-357)cAa>cCa	p.Q119P	FBXO7_ENST00000382058.3_Missense_Mutation_p.Q40P|FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_Missense_Mutation_p.Q5P	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	119	Important for interaction with PINK1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.Q119P(2)|p.Q40P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGATGAACAACCAAGTGAT	0.438																																																3	Substitution - Missense(3)	kidney(3)											85	84	85					22																	32875201		2203	4300	6503	SO:0001583	missense	25793			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.356A>C	22.37:g.32875201A>C	ENSP00000266087:p.Gln119Pro		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739323	0.69304	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.36	4.32	0.51571	.	0.997755	0.08119	N	0.994929	T	0.48150	0.1484	M	0.76574	2.34	0.09310	N	0.999997	P;B;P	0.42692	0.787;0.016;0.475	B;B;B	0.40782	0.34;0.003;0.188	T	0.48525	-0.9028	10	0.54805	T	0.06	-4.2935	3.4823	0.07607	0.6503:0.0:0.1837:0.166	.	40;119;5	Q9Y3I1-2;Q9Y3I1;Q5TI86	.;FBX7_HUMAN;.	P	119;40;40;5;5	ENSP00000266087:Q119P;ENSP00000388547:Q40P;ENSP00000371490:Q40P;ENSP00000380571:Q5P;ENSP00000404388:Q5P	ENSP00000266087:Q119P	Q	+	2	0	FBXO7	31205201	0.000000	0.05858	0.313000	0.25210	0.664000	0.39144	-0.131000	0.10482	0.882000	0.36016	0.397000	0.26171	CAA		0.438	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			C	32875201	A	C	32875201	3	2	149	1	0	0	0	0	1	0	0	0	5762	130	5	5	403	5	FBXO7	22	32875201	Missense_Mutation	SNP	A	TCGA-B0-4823-01A-02D-1421-08		32875201	18429365	117	8876											
FIGF	2277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	15402054	15402054	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chrX:15402054C>A	ENST00000297904.3	-	1	444	c.15G>T	c.(13-15)tgG>tgT	p.W5C		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	5					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.W5C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TCACCACTACCCACTCTCTGT	0.413																																																1	Substitution - Missense(1)	kidney(1)											162	128	139					X																	15402054		2203	4300	6503	SO:0001583	missense	2277			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.15G>T	X.37:g.15402054C>A	ENSP00000297904:p.Trp5Cys		B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625264	0.66901	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.47	5.47	0.80525	.	0.182670	0.37809	N	0.001936	T	0.73560	0.3602	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.77435	-0.2589	9	0.87932	D	0	-0.451	17.23	0.86982	0.0:1.0:0.0:0.0	.	5	O43915	VEGFD_HUMAN	C	5	.	ENSP00000297904:W5C	W	-	3	0	FIGF	15311975	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.625000	0.54238	2.280000	0.76307	0.513000	0.50165	TGG		0.413	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		A	15402054	C	A	15402054	3	1	149	1	0	0	0	0	1	0	0	0	5891	624	22	4	1077	4	FIGF	23	15402054	Missense_Mutation	SNP	C	TCGA-B0-4823-01A-02D-1421-08		15402054	139868506	118	8877											
HDAC6	10013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48681371	48681371	+	Silent	SNP	G	G	A			TCGA-B0-4823-01A-02D-1421-08	TCGA-B0-4823-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9f790e7e-3475-4242-82fc-cbdd461ce5ef	48a6852a-43e1-453d-a792-b46e6d01e275	g.chrX:48681371G>A	ENST00000334136.5	+	25	2740	c.2562G>A	c.(2560-2562)aaG>aaA	p.K854K	HDAC6_ENST00000444343.2_Silent_p.K868K|HDAC6_ENST00000376619.2_Silent_p.K854K			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	854					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.K854K(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TCACCAAGAAGGCACCCCAAC	0.537																																					Pancreas(112;205 1675 2305 8976 15959)											1	Substitution - coding silent(1)	kidney(1)											67	54	58					X																	48681371		2203	4300	6503	SO:0001819	synonymous_variant	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2562G>A	X.37:g.48681371G>A			O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	CCDS14306.1																																																																																				0.537	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		A	48681371	G	A	48681371	2	1	149	1	0	0	0	0	0	0	0	1	7013	991	35	2		2	HDAC6	23	48681371	Silent	SNP	G	TCGA-B0-4823-01A-02D-1421-08	33279317	48681371	106589189	119	8878											
VHL	7428	hgsc.bcm.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-B0-4824-01A-01W-1359-10	TCGA-B0-4824-11A-01D-2279-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	7161a7de-b571-4937-a5a9-d869dd975912	52b4edfa-cd2c-4197-ad0c-be9c465f7f35	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7	11	9					3																	10183725		2133	4211	6344	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>A	3.37:g.10183725C>A	ENSP00000256474:p.Ser65*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576281	0.86645	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.54	4.67	0.58626	.	0.055860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	rs5030826	.	.	.	X	65	.	ENSP00000256474:S65X	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183725	C	A	10183725	4	1	150	1	0	0	0	0	0	1	0	0	17167	893	31	4	196	4	VHL	3	10183725	Nonsense_Mutation	SNP	C	TCGA-B0-4824-01A-01W-1359-10		10183725	187838705	1	8879											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11188164	11188164	+	Missense_Mutation	SNP	G	G	T	rs587777893		TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr1:11188164G>T	ENST00000361445.4	-	43	6006	c.5930C>A	c.(5929-5931)aCa>aAa	p.T1977K	MTOR_ENST00000376838.1_Missense_Mutation_p.T182K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1977	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.T1977R(2)|p.T1977K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGAAGCCACTGTCAGTGGGTA	0.478																																																3	Substitution - Missense(3)	kidney(2)|prostate(1)											117	121	120					1																	11188164		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5930C>A	1.37:g.11188164G>T	ENSP00000354558:p.Thr1977Lys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883448	0.91740	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.81247	-1.47;-1.47	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.91389	0.7283	M	0.88704	2.975	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.92259	0.5815	10	0.87932	D	0	-18.9382	20.063	0.97692	0.0:0.0:1.0:0.0	.	1977	P42345	MTOR_HUMAN	K	1977;182	ENSP00000354558:T1977K;ENSP00000366034:T182K	ENSP00000354558:T1977K	T	-	2	0	MTOR	11110751	1.000000	0.71417	0.968000	0.41197	0.902000	0.53008	9.188000	0.94921	2.735000	0.93741	0.655000	0.94253	ACA		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11188164	G	T	11188164	3	4	151	1	0	0	0	0	1	0	0	0	9956	1377	48	4	1783	4	MTOR	1	11188164	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08		11188164	238062457	1	8880											
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16259441	16259441	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr1:16259441C>T	ENST00000375759.3	+	11	6910	c.6706C>T	c.(6706-6708)Cct>Tct	p.P2236S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2236	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P2236S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTTCCCAGCACCTCCACCTTA	0.567																																																1	Substitution - Missense(1)	kidney(1)											64	70	68					1																	16259441		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6706C>T	1.37:g.16259441C>T	ENSP00000364912:p.Pro2236Ser		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	5.691	0.312087	0.10789	.	.	ENSG00000065526	ENST00000375759	T	0.10668	2.85	5.05	2.01	0.26516	.	.	.	.	.	T	0.08582	0.0213	L	0.43152	1.355	0.41845	D	0.990148	B	0.18461	0.028	B	0.18263	0.021	T	0.20874	-1.0262	9	0.09084	T	0.74	-2.2375	10.1534	0.42807	0.0:0.5169:0.4104:0.0728	.	2236	Q96T58	MINT_HUMAN	S	2236	ENSP00000364912:P2236S	ENSP00000364912:P2236S	P	+	1	0	SPEN	16132028	0.144000	0.22641	0.189000	0.23252	0.597000	0.36814	0.559000	0.23485	0.119000	0.18210	0.462000	0.41574	CCT		0.567	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16259441	C	T	16259441	3	4	151	1	0	0	0	0	1	0	0	0	15043	507	18	2	6748	2	SPEN	1	16259441	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	5071277	16259441	232991180	2	8881											
KIAA0467	23334	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43905719	43905719	+	Splice_Site	SNP	G	G	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr1:43905719G>A	ENST00000562955.1	+	50	7039	c.7039G>A	c.(7039-7041)Gga>Aga	p.G2347R	SZT2_ENST00000372442.1_Splice_Site_p.G1505R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2404					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.G1505R(2)|p.G2347R(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CACACCCACAGGTATGCAAGT	0.577																																																3	Substitution - Missense(3)	kidney(3)											60	60	60					1																	43905719		2203	4300	6503	SO:0001630	splice_region_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7039+1G>A	1.37:g.43905719G>A			A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038661	0.35989	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.05	5.05	0.67936	.	0.206888	0.40064	N	0.001187	T	0.62744	0.2453	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57780	-0.7752	9	0.27785	T	0.31	.	9.3362	0.38051	0.0942:0.0:0.9058:0.0	.	2347	Q5T011-5	.	R	1505	.	ENSP00000361519:G1505R	G	+	1	0	SZT2	43678306	1.000000	0.71417	0.976000	0.42696	0.221000	0.24807	5.796000	0.69080	2.611000	0.88343	0.655000	0.94253	GGA		0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	Missense_Mutation	A	43905719	G	A	43905719	5	1	151	1	0	0	0	0	0	0	1	0	8180	1014	35	2	4647	2	KIAA0467	1	43905719	Splice_Site	SNP	G	TCGA-B0-4827-01A-02D-1421-08	27646278	43905719	205344902	3	8882											
PRUNE	58497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151001376	151001376	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr1:151001376C>T	ENST00000271620.3	+	7	1045	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000368934.1_Intron|PRUNE_ENST00000368936.1_Missense_Mutation_p.R115W	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	297						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)	p.R297W(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGCCAGTGCGGCAGTTGGC	0.498																																																1	Substitution - Missense(1)	kidney(1)											158	118	131					1																	151001376		2203	4300	6503	SO:0001583	missense	58497			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"prune homolog (Drosophila)"			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.889C>T	1.37:g.151001376C>T	ENSP00000271620:p.Arg297Trp		B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	ENST00000271620.3	37	CCDS977.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222733	0.79464	.	.	ENSG00000143363	ENST00000450884;ENST00000271620;ENST00000302413;ENST00000368936	T;T	0.59638	0.25;0.41	5.12	4.17	0.49024	DHHA2 (1);	0.000000	0.64402	D	0.000003	T	0.68550	0.3013	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71721	-0.4507	10	0.87932	D	0	.	11.0437	0.47846	0.3015:0.6985:0.0:0.0	.	297	Q86TP1	PRUNE_HUMAN	W	115;297;230;115	ENSP00000271620:R297W;ENSP00000357932:R115W	ENSP00000271620:R297W	R	+	1	2	PRUNE	149268000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.731000	0.26058	2.661000	0.90470	0.603000	0.83216	CGG		0.498	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222		T	151001376	C	T	151001376	3	4	151	1	0	0	0	0	1	0	0	0	12645	759	27	1	915	1	PRUNE	1	151001376	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	107095657	151001376	98249245	4	8883											
TDRKH	11022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151751219	151751219	+	Silent	SNP	A	A	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr1:151751219A>G	ENST00000368822.1	-	6	1458	c.825T>C	c.(823-825)agT>agC	p.S275S	TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368827.6_Silent_p.S275S|TDRKH_ENST00000368823.1_Silent_p.S271S|TDRKH_ENST00000368824.3_Silent_p.S275S|TDRKH_ENST00000458431.2_Silent_p.S275S|TDRKH_ENST00000368825.3_Silent_p.S230S|TDRKH_ENST00000440583.2_Silent_p.S51S			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	275					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)	p.S275S(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTGTCATCACTAGGTTTCT	0.507																																																1	Substitution - coding silent(1)	kidney(1)											60	60	60					1																	151751219		2002	4192	6194	SO:0001819	synonymous_variant	11022			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.825T>C	1.37:g.151751219A>G			D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	CCDS41394.1																																																																																				0.507	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		G	151751219	A	G	151751219	2	3	151	1	0	0	0	0	0	0	0	1	15742	156	6	3		3	TDRKH	1	151751219	Silent	SNP	A	TCGA-B0-4827-01A-02D-1421-08	749843	151751219	97499402	5	8884											
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186136027	186136027	+	Missense_Mutation	SNP	G	G	A	rs150494959	byFrequency	TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr1:186136027G>A	ENST00000271588.4	+	100	15756	c.15527G>A	c.(15526-15528)cGt>cAt	p.R5176H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5176	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R5176H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGTGGTCCGTTGTGGAAGT	0.463													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19991	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	HIS/ARG	9,4397	15.5+/-35.6	0,9,2194	225	192	203		15527	-10.8	0	1	dbSNP_134	203	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HMCN1	NM_031935.2	29	0,11,6492	AA,AG,GG		0.0233,0.2043,0.0846	benign	5176/5636	186136027	11,12995	2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15527G>A	1.37:g.186136027G>A	ENSP00000271588:p.Arg5176His		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990593	0.18966	0.002043	2.33E-4	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.87412	-2.25;-2.25	5.39	-10.8	0.00216	EGF-like calcium-binding (2);	0.402712	0.27764	N	0.017956	T	0.72716	0.3495	L	0.33093	0.98	0.09310	N	0.999995	B	0.13594	0.008	B	0.10450	0.005	T	0.48091	-0.9065	10	0.19147	T	0.46	.	13.2854	0.60241	0.657:0.0807:0.2623:0.0	.	5176	Q96RW7	HMCN1_HUMAN	H	5176	ENSP00000271588:R5176H;ENSP00000356462:R5176H	ENSP00000271588:R5176H	R	+	2	0	HMCN1	184402650	0.003000	0.15002	0.000000	0.03702	0.444000	0.32077	0.271000	0.18626	-2.778000	0.00362	-1.170000	0.01741	CGT		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	186136027	G	A	186136027	3	1	151	1	0	0	0	0	1	0	0	0	7222	1145	40	1	15925	1	HMCN1	1	186136027	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	34384808	186136027	63114594	6	8885											
KIDINS220	57498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	8919170	8919170	+	Silent	SNP	G	G	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr2:8919170G>T	ENST00000256707.3	-	19	2651	c.2470C>A	c.(2470-2472)Cgg>Agg	p.R824R	KIDINS220_ENST00000319688.5_Silent_p.R825R|KIDINS220_ENST00000473731.1_Silent_p.R824R|KIDINS220_ENST00000427284.1_Silent_p.R824R|KIDINS220_ENST00000418530.1_Silent_p.R782R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	824	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.R824R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTGAATCCCGAAGCACACTA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											234	211	218					2																	8919170		1881	4116	5997	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2470C>A	2.37:g.8919170G>T			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	CCDS42650.1																																																																																				0.408	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		T	8919170	G	T	8919170	2	4	151	1	0	0	0	0	0	0	0	1	8273	1057	37	4		4	KIDINS220	2	8919170	Silent	SNP	G	TCGA-B0-4827-01A-02D-1421-08		8919170	234280203	7	8886											
ASXL2	55252	broad.mit.edu;hgsc.bcm.edu	37	2	26029201	26029201	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr2:26029201G>A	ENST00000435504.4	-	4	442	c.149C>T	c.(148-150)aCt>aTt	p.T50I	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.T22I|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	50					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.T50I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGGAGAAGTCCCACTGCA	0.373																																																1	Substitution - Missense(1)	kidney(1)											44	42	42					2																	26029201		1903	4124	6027	SO:0001583	missense	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.149C>T	2.37:g.26029201G>A	ENSP00000391447:p.Thr50Ile		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	G	24.2	4.505443	0.85282	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.28666	1.85;1.6	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58457	-0.7633	10	0.87932	D	0	-17.0653	17.5725	0.87939	0.0:0.0:1.0:0.0	.	50	Q76L83	ASXL2_HUMAN	I	50;22	ENSP00000391447:T50I;ENSP00000337250:T22I	ENSP00000337250:T22I	T	-	2	0	ASXL2	25882705	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.285000	0.95894	2.572000	0.86782	0.563000	0.77884	ACT		0.373	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		A	26029201	G	A	26029201	3	1	151	1	0	0	0	0	1	0	0	0	1067	1029	36	2	4198	2	ASXL2	2	26029201	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	17110031	26029201	217170172	8	8887											
NFU1	27247	hgsc.bcm.edu;ucsc.edu	37	2	69650750	69650751	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr2:69650750_69650751insT	ENST00000410022.2	-	3	470_471	c.265_266insA	c.(265-267)cccfs	p.P89fs	NFU1_ENST00000394305.1_Intron|NFU1_ENST00000303698.3_Frame_Shift_Ins_p.P65fs|NFU1_ENST00000471185.1_Intron	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	89					iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						AGCTGGGGTGGGAAAATCCATG	0.391																																																0																																										SO:0001589	frameshift_variant	27247			AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"HIRA interacting protein 5", "NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.265_266insA	2.37:g.69650750_69650751insT	ENSP00000387219:p.Pro89fs		B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Frame_Shift_Ins	INS	ENST00000410022.2	37	CCDS33217.1																																																																																				0.391	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		T	69650751	-	T	69650750	7	5	151	1	0	1	1	0	0	0	0	0	10388	1232	43	0	522	0	NFU1	2	69650750	Frame_Shift_Ins	INS	-	TCGA-B0-4827-01A-02D-1421-08	43621549	69650750	173548623	9	8888											
SCN2A	6326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	166183424	166183424	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr2:166183424T>G	ENST00000375437.2	+	13	2369	c.2079T>G	c.(2077-2079)gaT>gaG	p.D693E	SCN2A_ENST00000283256.6_Missense_Mutation_p.D693E|SCN2A_ENST00000375427.2_Missense_Mutation_p.D693E|SCN2A_ENST00000357398.3_Missense_Mutation_p.D693E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	693					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D693E(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTCCATGGATTTATTGGAAG	0.373																																																2	Substitution - Missense(2)	kidney(2)											174	165	168					2																	166183424		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2079T>G	2.37:g.166183424T>G	ENSP00000364586:p.Asp693Glu		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634778	0.29068	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.8	4.65	0.58169	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000002	D	0.84334	0.5449	L	0.37850	1.14	0.42940	D	0.994342	B;B	0.09022	0.002;0.0	B;B	0.19391	0.025;0.006	T	0.76735	-0.2850	10	0.24483	T	0.36	.	8.8661	0.35286	0.0:0.1647:0.0:0.8353	.	693;693	Q99250-2;Q99250	.;SCN2A_HUMAN	E	693	ENSP00000364586:D693E;ENSP00000349973:D693E;ENSP00000283256:D693E;ENSP00000364576:D693E	ENSP00000283256:D693E	D	+	3	2	SCN2A	165891670	0.998000	0.40836	0.998000	0.56505	0.958000	0.62258	0.526000	0.22971	1.032000	0.39892	0.528000	0.53228	GAT		0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		G	166183424	T	G	166183424	3	3	151	1	0	0	0	0	1	0	0	0	13922	1490	52	5	2221	5	SCN2A	2	166183424	Missense_Mutation	SNP	T	TCGA-B0-4827-01A-02D-1421-08	96532674	166183424	77015949	10	8889											
ZDBF2	57683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	207170060	207170060	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr2:207170060G>T	ENST00000374423.3	+	5	1194	c.808G>T	c.(808-810)Gtt>Ttt	p.V270F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	270							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V270F(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGATAAGTTGGTTTTGTGGAA	0.363																																																2	Substitution - Missense(2)	kidney(2)											31	29	30					2																	207170060		1832	4073	5905	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.808G>T	2.37:g.207170060G>T	ENSP00000363545:p.Val270Phe		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.488747	0.26686	.	.	ENSG00000204186	ENST00000374423	T	0.18960	2.18	4.92	-9.85	0.00476	.	1.045340	0.07730	N	0.945183	T	0.08582	0.0213	N	0.22421	0.69	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.35001	-0.9806	10	0.56958	D	0.05	.	0.3635	0.00368	0.2959:0.2307:0.257:0.2164	.	270	Q9HCK1	ZDBF2_HUMAN	F	270	ENSP00000363545:V270F	ENSP00000363545:V270F	V	+	1	0	ZDBF2	206878305	0.002000	0.14202	0.002000	0.10522	0.179000	0.23085	-1.174000	0.03105	-1.375000	0.02129	0.650000	0.86243	GTT		0.363	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		T	207170060	G	T	207170060	3	4	151	1	0	0	0	0	1	0	0	0	17604	1261	44	4	818	4	ZDBF2	2	207170060	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	40986636	207170060	36029313	11	8890											
MSL3L2	151507	broad.mit.edu;ucsc.edu	37	2	234775439	234775439	+	RNA	SNP	T	T	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr2:234775439T>A	ENST00000438684.1	-	0	675					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CTCCTATTAGTATTTGTGGCA	0.468																																																0													63	51	55					2																	234775439		692	1591	2283			0			BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"male-specific lethal 3-like 2 (Drosophila)"	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775439T>A				Missense_Mutation	SNP	ENST00000438684.1	37																																																																																					0.468	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		A	234775439	T	A	234775439	1	1	151	0	1	0	0	0	0	0	0	0	9882	1638	57	5		5	MSL3L2	2	234775439	RNA	SNP	T	TCGA-B0-4827-01A-02D-1421-08	27605379	234775439	8423934	12	8891											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191479	10191479	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr3:10191479C>G	ENST00000256474.2	+	3	1312	c.472C>G	c.(472-474)Ctg>Gtg	p.L158V	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.L117V	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158V(12)|p.V155fs*15(2)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158fs*1(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGTGTATACTCTGAAAGAGCG	0.498		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(12)|Deletion - Frameshift(7)|Deletion - In frame(3)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(23)|soft_tissue(1)	GRCh37	CM941380	VHL	M							89	81	84					3																	10191479		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.472C>G	3.37:g.10191479C>G	ENSP00000256474:p.Leu158Val		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090345	0.55968	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99830	-7.01;-7.01	4.86	3.07	0.35406	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000003	D	0.99680	0.9880	M	0.75777	2.31	0.39234	D	0.963723	D;D	0.76494	0.999;0.99	D;D	0.80764	0.994;0.992	D	0.98323	1.0529	10	0.87932	D	0	-5.6982	9.2424	0.37504	0.0:0.8287:0.0:0.1713	.	117;158	P40337-2;P40337	.;VHL_HUMAN	V	158;117;76	ENSP00000256474:L158V;ENSP00000344757:L117V	ENSP00000256474:L158V	L	+	1	2	VHL	10166479	0.995000	0.38212	0.989000	0.46669	0.613000	0.37349	1.729000	0.38115	0.765000	0.33221	0.655000	0.94253	CTG		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10191479	C	G	10191479	3	3	151	1	0	0	0	0	1	0	0	0	17167	912	32	4	482	4	VHL	3	10191479	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08		10191479	187830951	13	8892											
CCDC51	79714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48474087	48474088	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr3:48474087_48474088GC>CT	ENST00000395694.2	-	4	1051_1052	c.966_967GC>AG	c.(964-969)gaGCag>gaAGag	p.Q323E	CCDC51_ENST00000412398.2_Missense_Mutation_p.Q214E|PLXNB1_ENST00000296440.6_5'Flank|CCDC51_ENST00000447018.1_Missense_Mutation_p.Q214E|CCDC51_ENST00000442740.1_Missense_Mutation_p.Q214E|CCDC51_ENST00000395696.1_Missense_Mutation_p.Q323E|PLXNB1_ENST00000448774.2_5'Flank	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	323						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.Q323E(2)|p.E322E(1)		endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCATCAAGCTGCTCTCGTAAGC	0.53																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	79714			AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.966_967delinsCT	3.37:g.48474087_48474088delinsCT	ENSP00000379047:p.Gln323Glu		Q9HA01	Missense_Mutation|Silent	SNP	ENST00000395694.2	37	CCDS2766.2																																																																																				0.53	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		CT	48474088	GC	CT	48474087	3	2	151	1	0	0	0	0	1	0	0	0	2823	1328	46	4	272	4	CCDC51	3	48474087	Missense_Mutation	DNP	GC	TCGA-B0-4827-01A-02D-1421-08	38282608	48474087	149548343	14	8893											
BAP1	8314	hgsc.bcm.edu;ucsc.edu	37	3	52439864	52439864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr3:52439864delT	ENST00000460680.1	-	10	1319	c.848delA	c.(847-849)gagfs	p.E284fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.E266fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	195					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E283_S285del(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTTGGACTCCTCAGGCAGCTG	0.562			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - In frame(1)	eye(1)											67	67	67					3																	52439864		2203	4300	6503	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.848delA	3.37:g.52439864delT	ENSP00000417132:p.Glu284fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																				0.562	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52439864	T	-	52439864	7	5	151	1	0	1	0	1	0	0	0	0	1311	1551	54	0	1373	0	BAP1	3	52439864	Frame_Shift_Del	DEL	T	TCGA-B0-4827-01A-02D-1421-08	3965777	52439864	145582566	15	8894											
CACNA1D	776	broad.mit.edu;hgsc.bcm.edu	37	3	53845422	53845422	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr3:53845422A>T	ENST00000350061.5	+	48	6986	c.6475A>T	c.(6475-6477)Acc>Tcc	p.T2159S	CACNA1D_ENST00000422281.2_Missense_Mutation_p.T2135S|CACNA1D_ENST00000288139.4_Missense_Mutation_p.T2179S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2159					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.T2179S(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GATATGCATCACCACCTTGTA	0.582																																																1	Substitution - Missense(1)	kidney(1)											37	35	35					3																	53845422		2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6475A>T	3.37:g.53845422A>T	ENSP00000288133:p.Thr2159Ser		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.005872	0.35415	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.96651	-4.04;-4.08;-4.04;-4.07	5.74	5.74	0.90152	.	0.337294	0.27159	N	0.020647	D	0.96491	0.8855	L	0.46157	1.445	0.80722	D	1	B;B;D;P	0.76494	0.209;0.298;0.999;0.783	B;B;D;B	0.75484	0.068;0.114;0.986;0.314	D	0.94083	0.7346	10	0.05436	T	0.98	.	16.3545	0.83230	1.0:0.0:0.0:0.0	.	2135;1852;2159;2179	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	S	2159;2179;2135;1852	ENSP00000288133:T2159S;ENSP00000288139:T2179S;ENSP00000409174:T2135S;ENSP00000418014:T1852S	ENSP00000288139:T2179S	T	+	1	0	CACNA1D	53820462	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.122000	0.71608	2.326000	0.78906	0.533000	0.62120	ACC		0.582	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		T	53845422	A	T	53845422	3	4	151	1	0	0	0	0	1	0	0	0	2543	159	6	5	6837	5	CACNA1D	3	53845422	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08	1405558	53845422	144177008	16	8895											
SLC7A14	57709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170185029	170185029	+	Silent	SNP	G	G	A	rs201486833		TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr3:170185029G>A	ENST00000231706.5	-	8	2445	c.2130C>T	c.(2128-2130)taC>taT	p.Y710Y	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	710					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.Y710Y(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCTCTGTGGCGTAGGAGAAAC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		13869	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	68	69	68		2130	-4.5	0.5	3		68	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC7A14	NM_020949.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		710/772	170185029	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2130C>T	3.37:g.170185029G>A			B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	CCDS33892.1																																																																																				0.587	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		A	170185029	G	A	170185029	2	1	151	1	0	0	0	0	0	0	0	1	14702	1140	40	1		1	SLC7A14	3	170185029	Silent	SNP	G	TCGA-B0-4827-01A-02D-1421-08	116339607	170185029	27837401	17	8896											
VPS8	23355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184689536	184689536	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr3:184689536G>A	ENST00000437079.3	+	40	3587	c.3416G>A	c.(3415-3417)cGt>cAt	p.R1139H	VPS8_ENST00000436792.2_Missense_Mutation_p.R1137H|VPS8_ENST00000446204.2_Missense_Mutation_p.R1047H|VPS8_ENST00000287546.4_Missense_Mutation_p.R1139H	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1139							zinc ion binding (GO:0008270)	p.R1139H(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CAGCAGCAACGTGAGGTAGGA	0.468																																																1	Substitution - Missense(1)	kidney(1)											108	100	103					3																	184689536		1897	4128	6025	SO:0001583	missense	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3416G>A	3.37:g.184689536G>A	ENSP00000397879:p.Arg1139His		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716481	0.89205	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.19938	2.12;2.12;2.12;2.11	5.75	5.75	0.90469	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	M	0.81341	2.54	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.974;0.998;0.979	T	0.45086	-0.9285	10	0.45353	T	0.12	-12.5682	16.8669	0.86032	0.0:0.0:1.0:0.0	.	1139;1047;1137	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	H	1139;1139;1137;1047	ENSP00000287546:R1139H;ENSP00000397879:R1139H;ENSP00000404704:R1137H;ENSP00000405483:R1047H	ENSP00000287546:R1139H	R	+	2	0	VPS8	186172230	1.000000	0.71417	0.959000	0.39883	0.990000	0.78478	6.133000	0.71682	2.732000	0.93576	0.655000	0.94253	CGT		0.468	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		A	184689536	G	A	184689536	3	1	151	1	0	0	0	0	1	0	0	0	17223	1145	40	1	3566	1	VPS8	3	184689536	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	14504507	184689536	13332894	18	8897											
NDST4	64579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	115769372	115769372	+	Splice_Site	SNP	A	A	C			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr4:115769372A>C	ENST00000264363.2	-	9	2617	c.1939T>G	c.(1939-1941)Tgg>Ggg	p.W647G		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	647	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.W647G(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTTCTTACCAGTCTATTCCT	0.348																																																1	Substitution - Missense(1)	kidney(1)											162	152	155					4																	115769372		2203	4299	6502	SO:0001630	splice_region_variant	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1940+1T>G	4.37:g.115769372A>C			Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004993	0.74932	.	.	ENSG00000138653	ENST00000264363	T	0.59224	0.28	5.71	5.71	0.89125	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.82287	0.5004	M	0.93462	3.42	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.87165	0.2217	10	0.87932	D	0	.	15.9869	0.80160	1.0:0.0:0.0:0.0	.	647	Q9H3R1	NDST4_HUMAN	G	647	ENSP00000264363:W647G	ENSP00000264363:W647G	W	-	1	0	NDST4	115988821	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.910000	0.92685	2.171000	0.68590	0.533000	0.62120	TGG		0.348	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	Missense_Mutation	C	115769372	A	C	115769372	5	2	151	1	0	0	0	0	0	0	1	0	10260	202	7	5	703	5	NDST4	4	115769372	Splice_Site	SNP	A	TCGA-B0-4827-01A-02D-1421-08		115769372	75384904	19	8898											
TRIM2	23321	broad.mit.edu;hgsc.bcm.edu	37	4	154216562	154216562	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr4:154216562C>A	ENST00000437508.2	+	6	1004	c.803C>A	c.(802-804)aCc>aAc	p.T268N	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Missense_Mutation_p.T295N	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	268					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T295N(1)|p.T268N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GGCACGGAGACCGAGGTCCTA	0.602																																																2	Substitution - Missense(2)	kidney(2)											58	50	53					4																	154216562		2203	4300	6503	SO:0001583	missense	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.803C>A	4.37:g.154216562C>A	ENSP00000415812:p.Thr268Asn		D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741288	0.69304	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.70749	-0.51;-0.5	5.31	5.31	0.75309	B-box, C-terminal (1);	0.091864	0.85682	D	0.000000	T	0.63616	0.2526	L	0.34521	1.04	0.53688	D	0.999977	B;B	0.34214	0.442;0.308	B;B	0.31869	0.137;0.137	T	0.66728	-0.5850	10	0.66056	D	0.02	-1.6814	19.3326	0.94297	0.0:1.0:0.0:0.0	.	295;268	D3DP09;Q9C040	.;TRIM2_HUMAN	N	268;295	ENSP00000415812:T268N;ENSP00000339659:T295N	ENSP00000339659:T295N	T	+	2	0	TRIM2	154436012	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.411000	0.80078	2.639000	0.89480	0.561000	0.74099	ACC		0.602	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			A	154216562	C	A	154216562	3	1	151	1	0	0	0	0	1	0	0	0	16499	507	18	4	906	4	TRIM2	4	154216562	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	38447190	154216562	36937714	20	8899											
SNX25	83891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	186188308	186188308	+	Splice_Site	SNP	A	A	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr4:186188308A>T	ENST00000504273.1	+	5	892	c.598A>T	c.(598-600)Agg>Tgg	p.R200W	SNX25_ENST00000264694.8_Splice_Site_p.R200W			Q9H3E2	SNX25_HUMAN	sorting nexin 25	200					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R200W(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GAAGCAACTAAGGTATTTGGT	0.413																																																1	Substitution - Missense(1)	kidney(1)											104	103	104					4																	186188308		2203	4300	6503	SO:0001630	splice_region_variant	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.599+1A>T	4.37:g.186188308A>T			Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862179	0.91511	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.15487	2.42;2.42	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.80422	2.495	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.46275	-0.9203	10	0.87932	D	0	-16.804	13.2399	0.59992	1.0:0.0:0.0:0.0	.	200	Q9H3E2	SNX25_HUMAN	W	200	ENSP00000426255:R200W;ENSP00000264694:R200W	ENSP00000264694:R200W	R	+	1	2	SNX25	186425302	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	6.763000	0.74955	2.055000	0.61198	0.533000	0.62120	AGG		0.413	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	Missense_Mutation	T	186188308	A	T	186188308	5	4	151	1	0	0	0	0	0	0	1	0	14902	86	3	5	612	5	SNX25	4	186188308	Splice_Site	SNP	A	TCGA-B0-4827-01A-02D-1421-08	31971746	186188308	4965968	21	8900											
SFRS12	140890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	65458025	65458025	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr5:65458025C>G	ENST00000380918.3	+	5	812	c.152C>G	c.(151-153)cCa>cGa	p.P51R	SREK1_ENST00000334121.6_Missense_Mutation_p.P167R|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	51					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P51R(1)|p.P167R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						CCACAGCCACCACTTATGGGA	0.413																																					GBM(10;31 347 27684 38976 41583)											2	Substitution - Missense(2)	kidney(2)											90	85	87					5																	65458025		2203	4300	6503	SO:0001583	missense	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"RNA binding motif (RRM) containing"	17882	protein-coding gene	gene with protein product	"serine-arginine-rich splicing regulatory protein 508"	609268	"splicing factor, arginine/serine-rich 12"	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.152C>G	5.37:g.65458025C>G	ENSP00000370305:p.Pro51Arg		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825632	0.71143	.	.	ENSG00000153914	ENST00000521691;ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.74421	-0.84;-0.84	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.81437	-0.0933	10	0.39692	T	0.17	.	19.245	0.93898	0.0:1.0:0.0:0.0	.	51;51;167	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	R	51;167;167;51	ENSP00000334538:P167R;ENSP00000370305:P51R	ENSP00000334538:P167R	P	+	2	0	SREK1	65493781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.418000	0.80167	2.614000	0.88457	0.655000	0.94253	CCA		0.413	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		G	65458025	C	G	65458025	3	3	151	1	0	0	0	0	1	0	0	0	14173	594	21	4	514	4	SFRS12	5	65458025	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08		65458025	115457235	22	8901											
CCDC125	202243	hgsc.bcm.edu;ucsc.edu	37	5	68607025	68607025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr5:68607025delC	ENST00000396496.2	-	4	480	c.373delG	c.(373-375)gaafs	p.E125fs	CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000383374.2_Frame_Shift_Del_p.E124fs|CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000396499.1_Frame_Shift_Del_p.E125fs			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	125						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TTTAACATTTCTACCTCCTGA	0.363																																																0													117	108	111					5																	68607025		2202	4298	6500	SO:0001589	frameshift_variant	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.373delG	5.37:g.68607025delC	ENSP00000379754:p.Glu125fs		Q86Z19	Frame_Shift_Del	DEL	ENST00000396496.2	37	CCDS4000.1																																																																																				0.363	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		-	68607025	C	-	68607025	7	5	151	1	0	1	0	1	0	0	0	0	2763	922	32	0	1198	0	CCDC125	5	68607025	Frame_Shift_Del	DEL	C	TCGA-B0-4827-01A-02D-1421-08	3149000	68607025	112308235	23	8902											
FCHO2	115548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	72333026	72333026	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr5:72333026A>G	ENST00000430046.2	+	10	1014	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E	FCHO2_ENST00000512348.1_Missense_Mutation_p.K267E|FCHO2_ENST00000287761.6_Missense_Mutation_p.K300E|FCHO2_ENST00000341845.6_Missense_Mutation_p.K300E	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	300					clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.K300E(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TAAAAAGGAAAAAGATGCAGA	0.259																																																2	Substitution - Missense(2)	kidney(2)											39	42	41					5																	72333026		1785	4046	5831	SO:0001583	missense	115548			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.898A>G	5.37:g.72333026A>G	ENSP00000393776:p.Lys300Glu		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199534	0.79015	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348;ENST00000287761	T;T;T;T	0.58506	1.14;1.1;3.46;0.33	4.86	4.86	0.63082	.	0.419476	0.27302	N	0.019987	T	0.64724	0.2624	L	0.42686	1.345	0.44073	D	0.996828	D;P;D;P	0.69078	0.997;0.64;0.984;0.633	D;B;P;B	0.73380	0.98;0.417;0.885;0.34	T	0.59284	-0.7483	10	0.08179	T	0.78	-13.1585	14.7513	0.69528	1.0:0.0:0.0:0.0	.	267;267;300;300	B4DHK0;E9PG79;Q0JRZ9-2;Q0JRZ9	.;.;.;FCHO2_HUMAN	E	300;300;267;300	ENSP00000393776:K300E;ENSP00000344034:K300E;ENSP00000427296:K267E;ENSP00000287761:K300E	ENSP00000287761:K300E	K	+	1	0	FCHO2	72368782	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.660000	0.74417	1.924000	0.55735	0.383000	0.25322	AAA		0.259	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		G	72333026	A	G	72333026	3	3	151	1	0	0	0	0	1	0	0	0	5790	15	1	3	936	3	FCHO2	5	72333026	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08	3726001	72333026	108582234	24	8903											
MDN1	23195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90388338	90388338	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr6:90388338A>C	ENST00000369393.3	-	75	12507	c.12392T>G	c.(12391-12393)tTt>tGt	p.F4131C	MDN1_ENST00000428876.1_Missense_Mutation_p.F4131C|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4131					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.F4131C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGGTGTTTAAAGAGGTCTGA	0.443																																																1	Substitution - Missense(1)	kidney(1)											173	158	163					6																	90388338		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12392T>G	6.37:g.90388338A>C	ENSP00000358400:p.Phe4131Cys		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	9.967	1.224507	0.22457	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.04083	3.71;3.71	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	M	0.83012	2.62	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.01021	-1.1478	10	0.87932	D	0	.	14.5645	0.68165	1.0:0.0:0.0:0.0	.	4131	Q9NU22	MDN1_HUMAN	C	4131	ENSP00000358400:F4131C;ENSP00000413970:F4131C	ENSP00000358400:F4131C	F	-	2	0	MDN1	90445059	1.000000	0.71417	0.999000	0.59377	0.257000	0.26127	8.808000	0.91939	1.847000	0.53656	0.459000	0.35465	TTT		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90388338	A	C	90388338	3	2	151	1	0	0	0	0	1	0	0	0	9417	14	1	5	4510	5	MDN1	6	90388338	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08		90388338	80726729	25	8904											
ROS1	6098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	117677884	117677884	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr6:117677884G>T	ENST00000368508.3	-	25	4247	c.4049C>A	c.(4048-4050)cCa>cAa	p.P1350Q	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1345Q	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1350					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P1350Q(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTATATCAATGGTTTCTCTAG	0.408			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	2	Substitution - Missense(2)	kidney(2)											179	145	157					6																	117677884		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4049C>A	6.37:g.117677884G>T	ENSP00000357494:p.Pro1350Gln		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506277	0.26949	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.72725	-0.67;-0.68	5.08	4.2	0.49525	.	0.000000	0.64402	D	0.000005	T	0.58481	0.2125	L	0.34521	1.04	0.80722	D	1	P	0.50443	0.935	P	0.50490	0.642	T	0.66412	-0.5930	10	0.87932	D	0	.	13.09	0.59162	0.0:0.0:0.839:0.161	.	1350	P08922	ROS1_HUMAN	Q	1350;1345	ENSP00000357494:P1350Q;ENSP00000357493:P1345Q	ENSP00000357493:P1345Q	P	-	2	0	ROS1	117784577	0.990000	0.36364	0.128000	0.21923	0.014000	0.08584	4.328000	0.59253	1.445000	0.47624	-0.182000	0.12963	CCA		0.408	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117677884	G	T	117677884	3	4	151	1	0	0	0	0	1	0	0	0	13537	1348	47	4	3070	4	ROS1	6	117677884	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	27289546	117677884	53437183	26	8905											
CARD11	84433	broad.mit.edu;ucsc.edu	37	7	2946320	2946320	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr7:2946320G>C	ENST00000396946.4	-	25	3820	c.3417C>G	c.(3415-3417)atC>atG	p.I1139M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1139	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.I1132M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTCCTCGCCGATCTTGTCCT	0.652			Mis		DLBCL																																		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	1	Substitution - Missense(1)	kidney(1)											93	77	82					7																	2946320		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3417C>G	7.37:g.2946320G>C	ENSP00000380150:p.Ile1139Met		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512926	0.44660	.	.	ENSG00000198286	ENST00000396946	T	0.25414	1.8	3.68	-1.88	0.07713	.	0.000000	0.64402	D	0.000004	T	0.38506	0.1043	M	0.71036	2.16	0.30324	N	0.787324	D	0.89917	1.0	D	0.75484	0.986	T	0.32851	-0.9891	10	0.87932	D	0	-21.8247	3.2545	0.06827	0.3319:0.102:0.4529:0.1132	.	1139	Q9BXL7	CAR11_HUMAN	M	1139	ENSP00000380150:I1139M	ENSP00000380150:I1139M	I	-	3	3	CARD11	2912846	0.007000	0.16637	0.141000	0.22245	0.991000	0.79684	-0.005000	0.12855	-0.213000	0.10094	0.511000	0.50034	ATC		0.652	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		C	2946320	G	C	2946320	3	2	151	1	0	0	0	0	1	0	0	0	2647	1048	37	4	51	4	CARD11	7	2946320	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08		2946320	156192343	27	8906											
PHF14	9678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	11078422	11078422	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr7:11078422T>G	ENST00000403050.3	+	11	2468	c.2016T>G	c.(2014-2016)aaT>aaG	p.N672K	PHF14_ENST00000445996.2_Missense_Mutation_p.N387K	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	672					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N672K(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AAAACCTGAATGGAAAACTTC	0.348																																																1	Substitution - Missense(1)	kidney(1)											76	72	73					7																	11078422		1836	4077	5913	SO:0001583	missense	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.2016T>G	7.37:g.11078422T>G	ENSP00000385795:p.Asn672Lys		A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413564	0.25465	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.70045	-0.1;-0.45	4.62	3.47	0.39725	.	0.103751	0.64402	D	0.000004	T	0.66577	0.2803	N	0.24115	0.695	0.51482	D	0.999928	D;D;D;B	0.63880	0.989;0.981;0.993;0.035	D;D;D;B	0.72982	0.969;0.932;0.979;0.011	T	0.61422	-0.7066	10	0.25106	T	0.35	.	10.3996	0.44222	0.0:0.0773:0.0:0.9227	.	387;387;672;672	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	K	672;387	ENSP00000385795:N672K;ENSP00000403907:N387K	ENSP00000385795:N672K	N	+	3	2	PHF14	11044947	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.429000	0.34903	0.925000	0.37094	0.533000	0.62120	AAT		0.348	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		G	11078422	T	G	11078422	3	3	151	1	0	0	0	0	1	0	0	0	11827	1461	51	5	2058	5	PHF14	7	11078422	Missense_Mutation	SNP	T	TCGA-B0-4827-01A-02D-1421-08	8132102	11078422	148060241	28	8907											
C7orf63	79846	hgsc.bcm.edu;ucsc.edu	37	7	89891285	89891285	+	Frame_Shift_Del	DEL	T	T	-	rs575988791		TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr7:89891285delT	ENST00000389297.4	+	4	522	c.271delT	c.(271-273)tttfs	p.F91fs	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Frame_Shift_Del_p.F91fs|C7orf63_ENST00000316089.8_Frame_Shift_Del_p.F91fs	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		91										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGCACAGATATTTAAAATTCT	0.254																																																0													38	40	39					7																	89891285		1776	4035	5811	SO:0001589	frameshift_variant	79846																														ENST00000389297.4:c.271delT	7.37:g.89891285delT	ENSP00000373948:p.Phe91fs		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Frame_Shift_Del	DEL	ENST00000389297.4	37	CCDS43613.2																																																																																				0.254	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			-	89891285	T	-	89891285	7	5	151	1	0	1	0	1	0	0	0	0	2411	1493	52	0	285	0	C7orf63	7	89891285	Frame_Shift_Del	DEL	T	TCGA-B0-4827-01A-02D-1421-08	78812863	89891285	69247378	29	8908											
AKAP9	10142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91668040	91668040	+	Nonsense_Mutation	SNP	C	C	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr7:91668040C>G	ENST00000359028.2	+	18	4907	c.4682C>G	c.(4681-4683)tCa>tGa	p.S1561*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.S1561*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.S1549*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1561					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.S1549*(1)|p.S1561*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGACTATTTCAGAAGAAATG	0.308			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Nonsense(2)	kidney(2)											58	66	64					7																	91668040		2202	4293	6495	SO:0001587	stop_gained	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4682C>G	7.37:g.91668040C>G	ENSP00000351922:p.Ser1561*		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	44	10.896752	0.99485	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.24	5.24	0.73138	.	0.000000	0.32548	N	0.005951	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.3736	0.87385	0.0:1.0:0.0:0.0	.	.	.	.	X	1549;1561;1561;1561;1561	.	ENSP00000348573:S1549X	S	+	2	0	AKAP9	91505976	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.265000	0.51561	2.602000	0.87976	0.591000	0.81541	TCA		0.308	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		G	91668040	C	G	91668040	4	3	151	1	0	0	0	0	0	1	0	0	459	838	29	4	4712	4	AKAP9	7	91668040	Nonsense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	1776755	91668040	67470623	30	8909											
C7orf58	79974	broad.mit.edu;hgsc.bcm.edu	37	7	120911339	120911339	+	Splice_Site	SNP	G	G	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr7:120911339G>A	ENST00000310396.5	+	22	3190	c.2723G>A	c.(2722-2724)aGt>aAt	p.S908N		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	908						endoplasmic reticulum (GO:0005783)		p.S908N(1)									TCCAATCAGAGTGAAGTACAG	0.323																																																1	Substitution - Missense(1)	kidney(1)											69	71	70					7																	120911339		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2722-1G>A	7.37:g.120911339G>A			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	8.302	0.820073	0.16678	.	.	ENSG00000106034	ENST00000310396	T	0.17854	2.25	5.93	3.06	0.35304	.	0.748284	0.13888	N	0.355784	T	0.07954	0.0199	N	0.17474	0.49	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.21381	-1.0247	10	0.12430	T	0.62	-4.4235	2.4311	0.04471	0.225:0.1973:0.4689:0.1087	.	908	A4D0V7	CG058_HUMAN	N	908	ENSP00000309772:S908N	ENSP00000309772:S908N	S	+	2	0	C7orf58	120698575	0.095000	0.21747	1.000000	0.80357	0.989000	0.77384	-0.059000	0.11731	0.803000	0.34113	0.555000	0.69702	AGT		0.323	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	Missense_Mutation	A	120911339	G	A	120911339	5	1	151	1	0	0	0	0	0	0	1	0	2407	1043	36	2	2851	2	C7orf58	7	120911339	Splice_Site	SNP	G	TCGA-B0-4827-01A-02D-1421-08	29243299	120911339	38227324	31	8910											
EPHB6	2051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	142568043	142568043	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr7:142568043T>G	ENST00000392957.2	+	18	3471	c.2684T>G	c.(2683-2685)tTg>tGg	p.L895W	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.L895W|EPHB6_ENST00000411471.2_Missense_Mutation_p.L618W	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	895	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.L880W(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTACTTATGTTGGACACTTGG	0.562																																																1	Substitution - Missense(1)	kidney(1)											122	141	135					7																	142568043		2203	4300	6503	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2684T>G	7.37:g.142568043T>G	ENSP00000376684:p.Leu895Trp		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735408	0.89482	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.83419	-1.72;-1.72;-1.72	5.58	5.58	0.84498	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37809	N	0.001923	D	0.91978	0.7459	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93307	0.6681	10	0.87932	D	0	.	14.9267	0.70884	0.0:0.0:0.0:1.0	.	895;618	O15197;O15197-2	EPHB6_HUMAN;.	W	895;895;618	ENSP00000376684:L895W;ENSP00000410789:L895W;ENSP00000409061:L618W	ENSP00000376684:L895W	L	+	2	0	EPHB6	142278165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.845000	0.86875	2.107000	0.64212	0.533000	0.62120	TTG		0.562	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			G	142568043	T	G	142568043	3	3	151	1	0	0	0	0	1	0	0	0	5180	1821	63	5	2738	5	EPHB6	7	142568043	Missense_Mutation	SNP	T	TCGA-B0-4827-01A-02D-1421-08	21656704	142568043	16570620	32	8911											
KCNB2	9312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	73848635	73848635	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr8:73848635T>C	ENST00000523207.1	+	3	1633	c.1045T>C	c.(1045-1047)Ttt>Ctt	p.F349L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	349					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.F349L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GATAATGATATTTTCCAGCCT	0.473																																																1	Substitution - Missense(1)	kidney(1)											117	120	119					8																	73848635		2203	4300	6503	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1045T>C	8.37:g.73848635T>C	ENSP00000430846:p.Phe349Leu		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	33	5.201501	0.94997	.	.	ENSG00000182674	ENST00000523207	D	0.97870	-4.58	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.46758	D	0.000266	D	0.98520	0.9506	M	0.76727	2.345	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.99827	1.1051	10	0.87932	D	0	.	15.7481	0.77962	0.0:0.0:0.0:1.0	.	349	Q92953	KCNB2_HUMAN	L	349	ENSP00000430846:F349L	ENSP00000430846:F349L	F	+	1	0	KCNB2	74011189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.121000	0.65114	0.533000	0.62120	TTT		0.473	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		C	73848635	T	C	73848635	3	2	151	1	0	0	0	0	1	0	0	0	8015	1493	52	3	1051	3	KCNB2	8	73848635	Missense_Mutation	SNP	T	TCGA-B0-4827-01A-02D-1421-08		73848635	72515387	33	8912											
RANBP6	26953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	6013437	6013437	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr9:6013437T>G	ENST00000259569.5	-	1	2181	c.2171A>C	c.(2170-2172)cAt>cCt	p.H724P	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	724					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H724P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AACATTGTCATGGAAATAAAA	0.418																																																1	Substitution - Missense(1)	kidney(1)											96	97	97					9																	6013437		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2171A>C	9.37:g.6013437T>G	ENSP00000259569:p.His724Pro		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839900	0.51057	.	.	ENSG00000137040	ENST00000259569	T	0.25749	1.78	3.79	2.64	0.31445	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.54095	0.1837	M	0.92317	3.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.961;0.979	T	0.58463	-0.7632	10	0.87932	D	0	-11.0545	7.6993	0.28613	0.0:0.1039:0.0:0.8961	.	312;724	B4DTX6;O60518	.;RNBP6_HUMAN	P	724	ENSP00000259569:H724P	ENSP00000259569:H724P	H	-	2	0	RANBP6	6003437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.590000	0.46154	0.808000	0.34231	0.528000	0.53228	CAT		0.418	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		G	6013437	T	G	6013437	3	3	151	1	0	0	0	0	1	0	0	0	13037	1464	51	5	1150	5	RANBP6	9	6013437	Missense_Mutation	SNP	T	TCGA-B0-4827-01A-02D-1421-08		6013437	135199994	34	8913											
FANCG	2189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35078167	35078167	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr9:35078167A>T	ENST00000378643.3	-	4	972	c.481T>A	c.(481-483)Ttg>Atg	p.L161M	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	161					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.L161M(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTAGTAACAAGGCCAGGTCC	0.592			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		Fanconi anaemia G	9	9p13	2189	"Fanconi anemia, complementation group G"		L	1	Substitution - Missense(1)	kidney(1)											72	76	75					9																	35078167		2203	4300	6503	SO:0001583	missense	2189			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.481T>A	9.37:g.35078167A>T	ENSP00000367910:p.Leu161Met			Missense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.079831	0.36662	.	.	ENSG00000221829	ENST00000378643;ENST00000543657;ENST00000448890	T;T	0.78003	0.58;-1.14	5.51	0.138	0.14793	.	.	.	.	.	T	0.69663	0.3136	M	0.63428	1.95	0.09310	N	1	P	0.40476	0.718	B	0.42422	0.387	T	0.58103	-0.7695	9	0.30078	T	0.28	-1.8724	0.6979	0.00902	0.371:0.164:0.109:0.3561	.	161	O15287	FANCG_HUMAN	M	161	ENSP00000367910:L161M;ENSP00000409607:L161M	ENSP00000367910:L161M	L	-	1	2	FANCG	35068167	0.004000	0.15560	0.933000	0.37362	0.442000	0.32017	0.872000	0.28037	0.357000	0.24183	0.533000	0.62120	TTG		0.592	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		T	35078167	A	T	35078167	3	4	151	1	0	0	0	0	1	0	0	0	5670	69	3	5	1431	5	FANCG	9	35078167	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08	29064730	35078167	106135264	35	8914											
RNF38	152006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	36376116	36376116	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr9:36376116A>T	ENST00000259605.6	-	3	278	c.171T>A	c.(169-171)gaT>gaA	p.D57E	RNF38_ENST00000353739.4_Missense_Mutation_p.D7E|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000357058.3_5'UTR|RNF38_ENST00000350199.4_5'UTR|RNF38_ENST00000377877.4_5'UTR|RNF38_ENST00000377885.2_5'UTR	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	57					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D57E(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GACTTGGACTATCTTCACTCT	0.423																																																1	Substitution - Missense(1)	kidney(1)											193	169	177					9																	36376116		2203	4300	6503	SO:0001583	missense	152006				CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"RING-type (C3HC4) zinc fingers"	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.171T>A	9.37:g.36376116A>T	ENSP00000259605:p.Asp57Glu		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612315	0.28712	.	.	ENSG00000137075	ENST00000259605;ENST00000353739	T;T	0.08370	3.1;3.15	5.91	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	L	0.41236	1.265	0.80722	D	1	D;D	0.61697	0.99;0.984	D;D	0.72625	0.978;0.952	T	0.18524	-1.0334	10	0.09590	T	0.72	-7.9479	7.8302	0.29338	0.8413:0.0:0.1587:0.0	.	7;57	Q9H0F5-2;Q9H0F5	.;RNF38_HUMAN	E	57;7	ENSP00000259605:D57E;ENSP00000335239:D7E	ENSP00000259605:D57E	D	-	3	2	RNF38	36366116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.005000	0.40864	2.254000	0.74563	0.533000	0.62120	GAT		0.423	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		T	36376116	A	T	36376116	3	4	151	1	0	0	0	0	1	0	0	0	13496	446	16	5	1416	5	RNF38	9	36376116	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08	1297949	36376116	104837315	36	8915											
TMOD1	7111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100286582	100286582	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr9:100286582G>A	ENST00000259365.4	+	2	325	c.112G>A	c.(112-114)Gac>Aac	p.D38N	TMOD1_ENST00000395211.2_Missense_Mutation_p.D38N	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	38					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)		p.D38N(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GGATGAGCTGGACCCTGATGT	0.512																																																1	Substitution - Missense(1)	kidney(1)											138	112	121					9																	100286582		2203	4300	6503	SO:0001583	missense	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.112G>A	9.37:g.100286582G>A	ENSP00000259365:p.Asp38Asn		B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821210	0.90873	.	.	ENSG00000136842	ENST00000395211;ENST00000259365	T;T	0.54279	0.58;0.58	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	M	0.87097	2.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81468	-0.0919	10	0.87932	D	0	-31.3023	17.3565	0.87337	0.0:0.0:1.0:0.0	.	38	P28289	TMOD1_HUMAN	N	38	ENSP00000378637:D38N;ENSP00000259365:D38N	ENSP00000259365:D38N	D	+	1	0	TMOD1	99326403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.283000	0.78640	2.534000	0.85438	0.585000	0.79938	GAC		0.512	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		A	100286582	G	A	100286582	3	1	151	1	0	0	0	0	1	0	0	0	16238	1174	41	2	114	2	TMOD1	9	100286582	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	63910466	100286582	40926849	37	8916											
GOLGA1	2800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	127690521	127690521	+	Silent	SNP	G	G	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr9:127690521G>A	ENST00000373555.4	-	6	678	c.345C>T	c.(343-345)gcC>gcT	p.A115A		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	115					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.A115A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGGCTCTGTTGGCTTGGAATG	0.428																																																1	Substitution - coding silent(1)	kidney(1)											122	97	105					9																	127690521		2203	4300	6503	SO:0001819	synonymous_variant	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.345C>T	9.37:g.127690521G>A			Q5T164|Q8IYZ9	Silent	SNP	ENST00000373555.4	37	CCDS6860.1																																																																																				0.428	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		A	127690521	G	A	127690521	2	1	151	1	0	0	0	0	0	0	0	1	6553	1335	47	2		2	GOLGA1	9	127690521	Silent	SNP	G	TCGA-B0-4827-01A-02D-1421-08	27403939	127690521	13522910	38	8917											
LCN1	3933	broad.mit.edu	37	9	138416709	138416709	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr9:138416709A>G	ENST00000263598.2	+	5	497	c.437A>G	c.(436-438)gAg>gGg	p.E146G	LCN1_ENST00000371781.3_Missense_Mutation_p.E146G	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	146					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.E146G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GAAGCCTTGGAGGACTTTGAG	0.652																																																2	Substitution - Missense(2)	kidney(1)|central_nervous_system(1)											34	30	32					9																	138416709		2201	4300	6501	SO:0001583	missense	3933				CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"Lipocalins"	6525	protein-coding gene	gene with protein product	"Von Ebner gland protein", "tear lipocalin", "lipocalin 1-like 2", "tear prealbumin"	151675	"lipocalin 1 (protein migrating faster than albumin, tear prealbumin)", "lipocalin 1 (tear prealbumin)"			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.437A>G	9.37:g.138416709A>G	ENSP00000263598:p.Glu146Gly		Q5T8A1	Missense_Mutation	SNP	ENST00000263598.2	37	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.988307	0.35036	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.12361	2.69;2.69	3.28	-3.09	0.05331	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.847626	0.10026	N	0.725343	T	0.19604	0.0471	M	0.87180	2.865	0.09310	N	1	B	0.30870	0.298	B	0.26310	0.068	T	0.26121	-1.0112	10	0.87932	D	0	.	11.2067	0.48773	0.2934:0.7065:0.0:0.0	.	146	P31025	LCN1_HUMAN	G	146	ENSP00000263598:E146G;ENSP00000360846:E146G	ENSP00000263598:E146G	E	+	2	0	LCN1	137556530	0.251000	0.23961	0.000000	0.03702	0.296000	0.27459	0.261000	0.18442	-0.543000	0.06240	0.519000	0.50382	GAG		0.652	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		G	138416709	A	G	138416709	3	3	151	1	0	0	0	0	1	0	0	0	8682	304	11	3	455	3	LCN1	9	138416709	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08	10726188	138416709	2796722	39	8918											
BTAF1	9044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93768666	93768666	+	Silent	SNP	T	T	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr10:93768666T>G	ENST00000265990.6	+	27	4202	c.3894T>G	c.(3892-3894)acT>acG	p.T1298T	BTAF1_ENST00000544642.1_Silent_p.T126T	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1298	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T1298T(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TAGGAAAAACTTTACAGTCCA	0.333																																																1	Substitution - coding silent(1)	kidney(1)											89	91	90					10																	93768666		2202	4300	6502	SO:0001819	synonymous_variant	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3894T>G	10.37:g.93768666T>G			B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	CCDS7419.1																																																																																				0.333	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		G	93768666	T	G	93768666	2	3	151	1	0	0	0	0	0	0	0	1	1538	1596	56	5		5	BTAF1	10	93768666	Silent	SNP	T	TCGA-B0-4827-01A-02D-1421-08		93768666	41766081	40	8919											
ACTR1A	10121	hgsc.bcm.edu	37	10	104248835	104248859	+	Frame_Shift_Del	DEL	AATGAAGATGTCGCCTTCAAGGGCT	AATGAAGATGTCGCCTTCAAGGGCT	-	rs34205116|rs145976767		TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	AATGAAGATGTCGCCTTCAAGGGCT	AATGAAGATGTCGCCTTCAAGGGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr10:104248835_104248859delAATGAAGATGTCGCCTTCAAGGGCT	ENST00000369905.4	-	3	213_237	c.150_174delAGCCCTTGAAGGCGACATCTTCATT	c.(148-174)ggagcccttgaaggcgacatcttcattfs	p.GALEGDIFI50fs	ACTR1A_ENST00000446605.2_Frame_Shift_Del_p.GALEGDIFI3fs|ACTR1A_ENST00000487599.1_Frame_Shift_Del_p.GALEGDIFI50fs|ACTR1A_ENST00000545684.1_Intron	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	50					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CTTTGGGGCCAATGAAGATGTCGCCTTCAAGGGCTCCTGCCATGA	0.489																																																0																																										SO:0001589	frameshift_variant	10121			X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.150_174delAGCCCTTGAAGGCGACATCTTCATT	10.37:g.104248835_104248859delAATGAAGATGTCGCCTTCAAGGGCT	ENSP00000358921:p.Gly50fs		B2R6B0|P42024	Frame_Shift_Del	DEL	ENST00000369905.4	37	CCDS7536.1																																																																																				0.489	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050053.1			-	104248859	AATGAAGATGTCGCCTTCAAGGGCT	-	104248835	7	5	151	1	0	1	0	1	0	0	0	0	209	126	5	0	992	0	ACTR1A	10	104248835	Frame_Shift_Del	DEL	AATGAAGATGTCGCCTTCAAGGGCT	TCGA-B0-4827-01A-02D-1421-08	10480169	104248835	31285912	41	8920											
ABLIM1	3983	hgsc.bcm.edu	37	10	116417921	116417922	+	Frame_Shift_Ins	INS	-	-	AAAA			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr10:116417921_116417922insAAAA	ENST00000277895.5	-	1	135_136	c.38_39insTTTT	c.(37-39)ttgfs	p.L13fs	ABLIM1_ENST00000369252.4_Intron|ABLIM1_ENST00000533213.2_Intron|snoU13_ENST00000458910.1_RNA	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	13					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CAGAGCTGCACAATTTCCCCAG	0.54																																																0																																										SO:0001589	frameshift_variant	3983			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.38_39insTTTT	10.37:g.116417921_116417922insAAAA	ENSP00000277895:p.Leu13fs		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Frame_Shift_Ins	INS	ENST00000277895.5	37	CCDS7590.1																																																																																				0.54	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			AAAA	116417922	-	AAAA	116417921	7	5	151	1	0	1	1	0	0	0	0	0	94	477	17	0	2473	0	ABLIM1	10	116417921	Frame_Shift_Ins	INS	-	TCGA-B0-4827-01A-02D-1421-08	12169086	116417921	19116826	42	8921											
CLRN3	119467	hgsc.bcm.edu;ucsc.edu	37	10	129676520	129676523	+	Frame_Shift_Del	DEL	TATT	TATT	-	rs34656572	byFrequency	TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	TATT	TATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr10:129676520_129676523delTATT	ENST00000368671.3	-	3	733_736	c.571_574delAATA	c.(571-576)aatatafs	p.NI191fs		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	191						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				ACAGTGACTATATTTAGAAGAATG	0.461																																																0																																										SO:0001589	frameshift_variant	119467			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"transmembrane protein 12"	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.571_574delAATA	10.37:g.129676520_129676523delTATT	ENSP00000357660:p.Asn191fs		Q6MZX8	Frame_Shift_Del	DEL	ENST00000368671.3	37	CCDS7656.1																																																																																				0.461	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311		-	129676523	TATT	-	129676520	7	5	151	1	0	1	0	1	0	0	0	0	3561	1406	49	0	110	0	CLRN3	10	129676520	Frame_Shift_Del	DEL	TATT	TCGA-B0-4827-01A-02D-1421-08	13258599	129676520	5858227	43	8922											
OR51T1	401665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4903629	4903629	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr11:4903629C>T	ENST00000322049.1	+	1	500	c.500C>T	c.(499-501)aCt>aTt	p.T167I	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.T194I|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T167I(1)|p.T194I(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATAAACACTGTGTCTTTT	0.453																																																2	Substitution - Missense(2)	kidney(2)											169	158	162					11																	4903629		2201	4298	6499	SO:0001583	missense	401665			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.500C>T	11.37:g.4903629C>T	ENSP00000322679:p.Thr167Ile		Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37		.	.	.	.	.	.	.	.	.	.	C	6.718	0.501246	0.12822	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.72394	-0.65;-0.65	4.8	-9.59	0.00556	GPCR, rhodopsin-like superfamily (1);	2.089500	0.02057	N	0.050485	T	0.64360	0.2591	L	0.47016	1.485	0.09310	N	1	P	0.39157	0.662	B	0.42138	0.377	T	0.68401	-0.5418	10	0.72032	D	0.01	.	9.5857	0.39514	0.4635:0.3548:0.1817:0.0	.	167	Q8NGJ9	O51T1_HUMAN	I	194;167	ENSP00000369738:T194I;ENSP00000322679:T167I	ENSP00000322679:T167I	T	+	2	0	OR51T1	4860205	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.572000	0.00912	-3.054000	0.00259	0.484000	0.47621	ACT		0.453	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		T	4903629	C	T	4903629	3	4	151	1	0	0	0	0	1	0	0	0	11108	565	20	2	583	2	OR51T1	11	4903629	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08		4903629	130102887	44	8923											
OR10A4	283297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6897950	6897950	+	Silent	SNP	T	T	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr11:6897950T>G	ENST00000379829.2	+	1	95	c.72T>G	c.(70-72)ctT>ctG	p.L24L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	24					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L24L(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCACTGAGCTTCAGGCTCTAC	0.453																																																1	Substitution - coding silent(1)	kidney(1)											190	177	181					11																	6897950		2201	4296	6497	SO:0001819	synonymous_variant	283297			AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"GPCR / Class A : Olfactory receptors"	15130	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily A, member 4 pseudogene"	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.72T>G	11.37:g.6897950T>G			B2RNP5|B9EH36|Q96R20	Silent	SNP	ENST00000379829.2	37	CCDS7774.1																																																																																				0.453	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		G	6897950	T	G	6897950	2	3	151	1	0	0	0	0	0	0	0	1	10894	1770	62	5		5	OR10A4	11	6897950	Silent	SNP	T	TCGA-B0-4827-01A-02D-1421-08	1994321	6897950	128108566	45	8924											
C11orf41	25758	broad.mit.edu;hgsc.bcm.edu	37	11	33566496	33566496	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr11:33566496C>G	ENST00000321505.4	+	2	2246	c.2066C>G	c.(2065-2067)aCa>aGa	p.T689R	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T695R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T695R			Q6ZVL6	K154L_HUMAN	KIAA1549-like	689						integral component of membrane (GO:0016021)		p.T689R(1)|p.T695R(1)									AAAAATGTCACAAACAAGGCC	0.542																																																2	Substitution - Missense(2)	kidney(2)											66	75	72					11																	33566496		2024	4171	6195	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2066C>G	11.37:g.33566496C>G	ENSP00000315295:p.Thr689Arg		B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.35|14.35	2.509604|2.509604	0.44660|0.44660	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.112351	.|0.39759	.|N	.|0.001280	T|T	0.75474|0.75474	0.3854|0.3854	M|M	0.74881|0.74881	2.28|2.28	0.38549|0.38549	D|D	0.9494|0.9494	.|D;B	.|0.71674	.|0.998;0.413	.|P;B	.|0.58721	.|0.844;0.217	T|T	0.81391|0.81391	-0.0954|-0.0954	5|9	.|0.72032	.|D	.|0.01	-8.291|-8.291	16.1171|16.1171	0.81314|0.81314	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|695;695	.|E9PAT2;Q6ZVL6-2	.|.;.	E|R	87|689;695;695;529	.|.	.|ENSP00000265654:T695R	Q|T	+|+	1|2	0|0	C11orf41|C11orf41	33523072|33523072	0.995000|0.995000	0.38212|0.38212	0.795000|0.795000	0.32087|0.32087	0.198000|0.198000	0.23893|0.23893	3.442000|3.442000	0.52900|0.52900	2.248000|2.248000	0.74166|0.74166	0.537000|0.537000	0.68136|0.68136	CAA|ACA		0.542	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		G	33566496	C	G	33566496	3	3	151	1	0	0	0	0	1	0	0	0	1642	478	17	4	2090	4	C11orf41	11	33566496	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	26668546	33566496	101440020	46	8925											
ABTB2	25841	hgsc.bcm.edu	37	11	34378374	34378374	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr11:34378374C>A	ENST00000435224.2	-	1	1181	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	ABTB2_ENST00000298992.2_Missense_Mutation_p.D67Y	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	253					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCTCCGCCATCAGGGCTGTGG	0.662																																																0													22	20	21					11																	34378374		2202	4297	6499	SO:0001583	missense	25841			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.757G>T	11.37:g.34378374C>A	ENSP00000410157:p.Asp253Tyr		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809138	0.50421	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60299	0.2;0.2	4.96	4.96	0.65561	Histone-fold (2);	0.296847	0.31347	N	0.007807	T	0.64907	0.2641	M	0.83223	2.63	0.50813	D	0.999897	P	0.51653	0.947	P	0.44561	0.453	T	0.73225	-0.4050	10	0.59425	D	0.04	-14.9652	15.4021	0.74849	0.0:1.0:0.0:0.0	.	67	Q8N961	ABTB2_HUMAN	Y	253;67	ENSP00000410157:D253Y;ENSP00000298992:D67Y	ENSP00000298992:D67Y	D	-	1	0	ABTB2	34334950	0.989000	0.36119	0.994000	0.49952	0.708000	0.40852	3.265000	0.51561	2.296000	0.77279	0.455000	0.32223	GAT		0.662	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		A	34378374	C	A	34378374	3	1	151	1	0	0	0	0	1	0	0	0	103	826	29	4	2388	4	ABTB2	11	34378374	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	811878	34378374	100628142	47	8926											
TNKS1BP1	85456	broad.mit.edu;ucsc.edu	37	11	57076184	57076184	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr11:57076184A>T	ENST00000532437.1	-	5	4312	c.4001T>A	c.(4000-4002)cTa>cAa	p.L1334Q	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L1334Q			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1334	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.L1334Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACATCCCCGTAGCCCCTGAGA	0.607																																																1	Substitution - Missense(1)	kidney(1)											133	144	141					11																	57076184		2201	4296	6497	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4001T>A	11.37:g.57076184A>T	ENSP00000437271:p.Leu1334Gln		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	A	1.846	-0.466237	0.04476	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30714	1.52;1.52	3.64	2.71	0.32032	.	1.094760	0.07289	N	0.872167	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.29955	0.263	B	0.23716	0.048	T	0.23226	-1.0194	10	0.54805	T	0.06	.	6.3792	0.21525	0.1496:0.0:0.8504:0.0	.	1334	Q9C0C2	TB182_HUMAN	Q	1334	ENSP00000350990:L1334Q;ENSP00000437271:L1334Q	ENSP00000350990:L1334Q	L	-	2	0	TNKS1BP1	56832760	0.000000	0.05858	0.016000	0.15963	0.181000	0.23173	-1.027000	0.03592	0.497000	0.27926	-0.464000	0.05259	CTA		0.607	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		T	57076184	A	T	57076184	3	4	151	1	0	0	0	0	1	0	0	0	16325	420	15	5	1212	5	TNKS1BP1	11	57076184	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08	22697810	57076184	77930332	48	8927											
AAAS	8086	broad.mit.edu	37	12	53708552	53708552	+	Silent	SNP	A	A	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr12:53708552A>T	ENST00000209873.4	-	6	693	c.528T>A	c.(526-528)cgT>cgA	p.R176R	AAAS_ENST00000550286.1_Silent_p.R52R|AAAS_ENST00000394384.3_Intron|AAAS_ENST00000549983.1_5'UTR	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	176					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)		p.R176R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CATTATACACACGGACTGAGT	0.547																																																1	Substitution - coding silent(1)	kidney(1)											88	69	76					12																	53708552		2203	4300	6503	SO:0001819	synonymous_variant	8086			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.528T>A	12.37:g.53708552A>T			Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	CCDS8856.1																																																																																				0.547	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			T	53708552	A	T	53708552	2	4	151	1	0	0	0	0	0	0	0	1	8	146	6	5		5	AAAS	12	53708552	Silent	SNP	A	TCGA-B0-4827-01A-02D-1421-08		53708552	80143343	49	8928											
CD63	967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56121064	56121064	+	Silent	SNP	G	G	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr12:56121064G>A	ENST00000549117.1	-	3	562	c.126C>T	c.(124-126)acC>acT	p.T42T	CD63_ENST00000548160.1_5'Flank|CD63_ENST00000420846.3_Silent_p.T42T|CD63_ENST00000552692.1_Silent_p.T42T|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000257857.4_Silent_p.T42T|CD63_ENST00000552754.1_Intron|CD63_ENST00000550776.1_5'UTR|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000548898.1_5'Flank|CD63_ENST00000552067.1_5'Flank	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	42					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)		p.T42T(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCTGGATTATGGTCTGACTCA	0.572																																					Pancreas(123;1459 1747 6717 18841 37380)											1	Substitution - coding silent(1)	kidney(1)											103	98	100					12																	56121064		2203	4300	6503	SO:0001819	synonymous_variant	967			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.126C>T	12.37:g.56121064G>A			F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Silent	SNP	ENST00000549117.1	37	CCDS8890.1																																																																																				0.572	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			A	56121064	G	A	56121064	2	1	151	1	0	0	0	0	0	0	0	1	3031	1335	47	2		2	CD63	12	56121064	Silent	SNP	G	TCGA-B0-4827-01A-02D-1421-08	2412512	56121064	77730831	50	8929											
IRAK3	11213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	66638963	66638963	+	Missense_Mutation	SNP	G	G	A	rs146885838		TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr12:66638963G>A	ENST00000261233.4	+	11	1656	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	IRAK3_ENST00000457197.2_Missense_Mutation_p.R351Q	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.R412Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CCCTGCCCTCGGAATTTCTCT	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		16506	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)						G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	77	78	77		1052,1235	0.2	1	12	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	IRAK3	NM_001142523.1,NM_007199.2	43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	351/536,412/597	66638963	2,13004	2203	4300	6503	SO:0001583	missense	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1235G>A	12.37:g.66638963G>A	ENSP00000261233:p.Arg412Gln			Missense_Mutation	SNP	ENST00000261233.4	37	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179269	0.38511	0.0	2.33E-4	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.34472	1.36;1.36	5.89	0.206	0.15208	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.555348	0.17856	N	0.159681	T	0.14700	0.0355	N	0.05467	-0.045	0.28564	N	0.910972	B;B	0.29115	0.196;0.233	B;B	0.20384	0.017;0.029	T	0.23404	-1.0189	9	.	.	.	-3.6624	9.0567	0.36410	0.4439:0.0:0.5561:0.0	.	351;412	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	Q	412;351	ENSP00000261233:R412Q;ENSP00000409852:R351Q	.	R	+	2	0	IRAK3	64925230	0.832000	0.29368	0.998000	0.56505	0.884000	0.51177	-0.066000	0.11598	0.097000	0.17492	0.561000	0.74099	CGG		0.478	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			A	66638963	G	A	66638963	3	1	151	1	0	0	0	0	1	0	0	0	7826	1116	39	1	1277	1	IRAK3	12	66638963	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	10517899	66638963	67212932	51	8930											
NT5DC3	51559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104171814	104171814	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr12:104171814G>T	ENST00000392876.3	-	14	1480	c.1440C>A	c.(1438-1440)ttC>ttA	p.F480L		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	480						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.F480L(1)|p.F405L(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGTCTGTGCGGAACAGGCTTC	0.478																																																2	Substitution - Missense(2)	kidney(2)											84	84	84					12																	104171814		2203	4300	6503	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1440C>A	12.37:g.104171814G>T	ENSP00000376615:p.Phe480Leu		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954872	0.53293	.	.	ENSG00000111696	ENST00000392876	T	0.23348	1.91	5.8	2.64	0.31445	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	M	0.88377	2.95	0.49687	D	0.999817	D	0.89917	1.0	D	0.97110	1.0	T	0.60556	-0.7240	10	0.87932	D	0	-34.7602	10.8689	0.46872	0.2629:0.0:0.7371:0.0	.	480	Q86UY8	NT5D3_HUMAN	L	480	ENSP00000376615:F480L	ENSP00000376615:F480L	F	-	3	2	NT5DC3	102695944	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	2.142000	0.42177	0.801000	0.34066	-0.136000	0.14681	TTC		0.478	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		T	104171814	G	T	104171814	3	4	151	1	0	0	0	0	1	0	0	0	10694	1165	41	4	210	4	NT5DC3	12	104171814	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	37532851	104171814	29680081	52	8931											
MYO1H	283446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109826583	109826583	+	Silent	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr12:109826583C>T	ENST00000431443.2	+	1	60	c.60C>T	c.(58-60)gaC>gaT	p.D20D	MYO1H_ENST00000310903.5_Silent_p.D20D	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	20	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D20D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGCTATTGGACGCGTACACCA	0.532																																																2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											216	223	220					12																	109826583		2103	4233	6336	SO:0001819	synonymous_variant	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.60C>T	12.37:g.109826583C>T			F5H3C6	Silent	SNP	ENST00000431443.2	37																																																																																					0.532	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		T	109826583	C	T	109826583	2	4	151	1	0	0	0	0	0	0	0	1	10077	535	19	1		1	MYO1H	12	109826583	Silent	SNP	C	TCGA-B0-4827-01A-02D-1421-08	5654769	109826583	24025312	53	8932											
NOS1	4842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117672492	117672492	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr12:117672492A>T	ENST00000338101.4	-	21	3219	c.3215T>A	c.(3214-3216)cTg>cAg	p.L1072Q	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.L1038Q			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.L1038Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GAAGACACCCAGGTGGTCCCC	0.592																																					Esophageal Squamous(162;1748 2599 51982 52956)											1	Substitution - Missense(1)	kidney(1)											47	51	50					12																	117672492		2027	4184	6211	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3215T>A	12.37:g.117672492A>T	ENSP00000337459:p.Leu1072Gln			Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.022675	0.93462	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.52983	0.64;0.64	5.05	5.05	0.67936	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.64402	D	0.000001	T	0.76737	0.4029	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84119	0.0405	10	0.87932	D	0	-20.3439	14.9474	0.71042	1.0:0.0:0.0:0.0	.	1038	P29475	NOS1_HUMAN	Q	933;1038;1038;1072	ENSP00000320758:L1038Q;ENSP00000337459:L1072Q	ENSP00000320758:L1038Q	L	-	2	0	NOS1	116156875	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.015000	0.93640	2.113000	0.64589	0.459000	0.35465	CTG		0.592	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			T	117672492	A	T	117672492	3	4	151	1	0	0	0	0	1	0	0	0	10543	188	7	5	1227	5	NOS1	12	117672492	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08	7845909	117672492	16179403	54	8933											
RNF10	9921	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121002894	121002894	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr12:121002894G>T	ENST00000325954.4	+	11	2146	c.1685G>T	c.(1684-1686)aGa>aTa	p.R562I	RNF10_ENST00000413266.2_Missense_Mutation_p.R567I	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	562					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R562I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCGTCACAGATATCTCTCT	0.473																																																1	Substitution - Missense(1)	kidney(1)											215	201	206					12																	121002894		2203	4300	6503	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1685G>T	12.37:g.121002894G>T	ENSP00000322242:p.Arg562Ile		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366262	0.61513	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000546262;ENST00000540046	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.982	T	0.54761	-0.8245	10	0.87932	D	0	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	567;562	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	I	562;562;567;10;106	ENSP00000322242:R562I;ENSP00000415682:R567I;ENSP00000439221:R10I;ENSP00000439859:R106I	ENSP00000322242:R562I	R	+	2	0	RNF10	119487277	1.000000	0.71417	0.976000	0.42696	0.039000	0.13416	7.990000	0.88215	2.709000	0.92574	0.655000	0.94253	AGA		0.473	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			T	121002894	G	T	121002894	3	4	151	1	0	0	0	0	1	0	0	0	13428	942	33	4	1727	4	RNF10	12	121002894	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	3330402	121002894	12849001	55	8934											
ATP12A	479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25281239	25281239	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr13:25281239G>A	ENST00000381946.3	+	16	2415	c.2248G>A	c.(2248-2250)Ggg>Agg	p.G750R	ATP12A_ENST00000218548.6_Missense_Mutation_p.G756R			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	750					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.G750R(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GATTGCCATGGGGATAGCAGG	0.552																																					Pancreas(156;1582 1935 18898 22665 26498)											1	Substitution - Missense(1)	kidney(1)											98	81	87					13																	25281239		2203	4300	6503	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2248G>A	13.37:g.25281239G>A	ENSP00000371372:p.Gly750Arg		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978037	0.74360	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.99051	-5.37;-5.37	5.81	5.81	0.92471	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99609	0.9858	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97810	1.0250	10	0.87932	D	0	.	17.5599	0.87903	0.0:0.0:1.0:0.0	.	756;750	P54707-2;P54707	.;AT12A_HUMAN	R	756;750	ENSP00000218548:G756R;ENSP00000371372:G750R	ENSP00000218548:G756R	G	+	1	0	ATP12A	24179239	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	9.742000	0.98846	2.739000	0.93911	0.563000	0.77884	GGG		0.552	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		A	25281239	G	A	25281239	3	1	151	1	0	0	0	0	1	0	0	0	1122	1232	43	2	2328	2	ATP12A	13	25281239	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08		25281239	89888639	56	8935											
ALG5	29880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	37567752	37567752	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr13:37567752G>C	ENST00000239891.3	-	4	409	c.343C>G	c.(343-345)Cag>Gag	p.Q115E	ALG5_ENST00000443765.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.Q115E|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	115					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)	p.Q115E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTTGAGGTCTGATCTTTACTG	0.343																																																1	Substitution - Missense(1)	kidney(1)											130	125	126					13																	37567752		2203	4300	6503	SO:0001583	missense	29880			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"Glycosyltransferase family 2 domain containing"	20266	protein-coding gene	gene with protein product		604565	"asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)", "asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.343C>G	13.37:g.37567752G>C	ENSP00000239891:p.Gln115Glu		B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	G	0.105	-1.146190	0.01714	.	.	ENSG00000120697	ENST00000239891;ENST00000413537	T;T	0.56776	0.44;0.44	5.51	1.51	0.23008	Glycosyl transferase, family 2 (1);	0.345278	0.33916	N	0.004438	T	0.34279	0.0892	N	0.20357	0.565	0.33107	D	0.540003	B	0.02656	0.0	B	0.09377	0.004	T	0.29366	-1.0014	10	0.30078	T	0.28	-20.5088	11.5955	0.50970	0.0:0.3077:0.4795:0.2128	.	115	Q9Y673	ALG5_HUMAN	E	115	ENSP00000239891:Q115E;ENSP00000389647:Q115E	ENSP00000239891:Q115E	Q	-	1	0	ALG5	36465752	1.000000	0.71417	0.995000	0.50966	0.176000	0.22953	1.646000	0.37249	0.016000	0.14998	-1.357000	0.01221	CAG		0.343	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		C	37567752	G	C	37567752	3	2	151	1	0	0	0	0	1	0	0	0	521	1299	45	4	659	4	ALG5	13	37567752	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	12286513	37567752	77602126	57	8936											
FNTB	2342	broad.mit.edu;hgsc.bcm.edu	37	14	65511120	65511120	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr14:65511120C>T	ENST00000246166.2	+	9	1148	c.914C>T	c.(913-915)gCg>gTg	p.A305V	MIR4706_ENST00000582134.1_RNA|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.A340V|FNTB_ENST00000447296.2_Missense_Mutation_p.A339V|FNTB_ENST00000542227.1_Missense_Mutation_p.A259V	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	305					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)	p.A305V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTCTGGCAGGCGGGGCTCCTG	0.602																																																1	Substitution - Missense(1)	kidney(1)											95	94	94					14																	65511120		2203	4300	6503	SO:0001583	missense	2342				CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.914C>T	14.37:g.65511120C>T	ENSP00000246166:p.Ala305Val		B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	CCDS9769.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330964	0.95733	.	.	ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000257365	ENST00000542227;ENST00000549987;ENST00000447296;ENST00000448390;ENST00000246166	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.47	5.47	0.80525	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.052650	0.85682	D	0.000000	T	0.33206	0.0855	L	0.45051	1.395	0.80722	D	1	P;P;P;D	0.60575	0.597;0.926;0.855;0.988	B;B;B;P	0.47864	0.05;0.231;0.057;0.559	T	0.01456	-1.1350	10	0.40728	T	0.16	-19.7838	13.9225	0.63940	0.0:0.8474:0.1526:0.0	.	308;259;339;305	Q86TX8;B4E1A0;B4DL54;P49356	.;.;.;FNTB_HUMAN	V	259;340;339;61;305	ENSP00000443140:A259V;ENSP00000447121:A340V;ENSP00000406393:A339V;ENSP00000399362:A61V;ENSP00000246166:A305V	ENSP00000246166:A305V	A	+	2	0	FNTB;AL139022.1	64580873	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	5.798000	0.69095	2.849000	0.98006	0.609000	0.83330	GCG		0.602	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		T	65511120	C	T	65511120	3	4	151	1	0	0	0	0	1	0	0	0	5980	768	27	1	948	1	FNTB	14	65511120	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08		65511120	41838420	58	8937											
ABCD4	5826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74757105	74757105	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr14:74757105C>G	ENST00000356924.4	-	12	1359	c.1216G>C	c.(1216-1218)Gat>Cat	p.D406H	ABCD4_ENST00000298816.7_Missense_Mutation_p.D302H|ABCD4_ENST00000557554.1_5'UTR|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	406	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.D406H(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AGGCTCAGATCCTTGATTAGG	0.607											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											134	137	136					14																	74757105		2203	4300	6503	SO:0001583	missense	5826			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1216G>C	14.37:g.74757105C>G	ENSP00000349396:p.Asp406His	1155	A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	CCDS9828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.879677|4.879677	0.91740|0.91740	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816|ENST00000556517	D;D|.	0.99872|.	-2.84;-7.37|.	4.99|4.99	4.99|4.99	0.66335|0.66335	ABC transporter-like (1);|.	0.049027|.	0.85682|.	D|.	0.000000|.	T|T	0.73265|0.73265	0.3565|0.3565	M|M	0.62209|0.62209	1.925|1.925	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;0.999;0.999|.	D;D;D;D|.	0.74348|.	0.983;0.971;0.962;0.96|.	T|T	0.71649|0.71649	-0.4529|-0.4529	10|5	0.59425|.	D|.	0.04|.	.|.	18.4618|18.4618	0.90741|0.90741	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	302;302;406;406|.	F8W7M4;B7Z4V6;A8K5L7;O14678|.	.;.;.;ABCD4_HUMAN|.	H|S	406;302|17	ENSP00000349396:D406H;ENSP00000298816:D302H|.	ENSP00000298816:D302H|.	D|R	-|-	1|3	0|2	ABCD4|ABCD4	73826858|73826858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.280000|7.280000	0.78610|0.78610	2.577000|2.577000	0.86979|0.86979	0.561000|0.561000	0.74099|0.74099	GAT|AGG		0.607	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		G	74757105	C	G	74757105	3	3	151	1	0	0	0	0	1	0	0	0	63	855	30	4	636	4	ABCD4	14	74757105	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	9245985	74757105	32592435	59	8938											
PPIP5K1	9677	broad.mit.edu	37	15	43873430	43873430	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr15:43873430A>G	ENST00000396923.3	-	8	1055	c.934T>C	c.(934-936)Ttc>Ctc	p.F312L	PPIP5K1_ENST00000360135.4_Missense_Mutation_p.F312L|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.F312L|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.F312L|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.F312L|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.F312L|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.F312L|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.F312L			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	312					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.F312L(1)		large_intestine(1)	1						TCTACCTTGAAAGCTACGCAG	0.498																																																1	Substitution - Missense(1)	kidney(1)											65	88	80					15																	43873430		2196	4295	6491	SO:0001583	missense	9677			AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"histidine acid phosphatase domain containing 2A"	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.934T>C	15.37:g.43873430A>G	ENSP00000380129:p.Phe312Leu		O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560904	0.86335	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.58060	0.36;0.44;1.06;0.44;0.36;0.36;0.41;1.06	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	H	0.94808	3.585	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;P;D;D	0.64237	0.923;0.839;0.923;0.923	D	0.84556	0.0647	10	0.62326	D	0.03	-11.7494	14.4623	0.67459	1.0:0.0:0.0:0.0	.	312;312;312;312	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	L	312;312;312;312;312;312;312;312;312;312;313	ENSP00000371309:F312L;ENSP00000353446:F312L;ENSP00000353253:F312L;ENSP00000334779:F312L;ENSP00000380129:F312L;ENSP00000400887:F312L;ENSP00000371303:F312L;ENSP00000308773:F312L	ENSP00000304750:F312L	F	-	1	0	PPIP5K1	41660722	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.121000	0.94375	1.978000	0.57642	0.524000	0.50904	TTC		0.498	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		G	43873430	A	G	43873430	3	3	151	1	0	0	0	0	1	0	0	0	12337	14	1	3	3583	3	PPIP5K1	15	43873430	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08		43873430	58657962	60	8939											
PARP6	56965	broad.mit.edu;hgsc.bcm.edu	37	15	72542434	72542434	+	Splice_Site	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr15:72542434C>T	ENST00000569795.1	-	19	2106		c.e19-1		PARP6_ENST00000287196.9_Splice_Site|PARP6_ENST00000260376.7_Splice_Site|PARP6_ENST00000413097.2_Splice_Site			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6								NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.?(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GTGGGACCCACTGTAAGGCAG	0.512																																																1	Unknown(1)	kidney(1)											118	119	119					15																	72542434		2016	4184	6200	SO:0001630	splice_region_variant	56965			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1419-1G>A	15.37:g.72542434C>T			Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Splice_Site	SNP	ENST00000569795.1	37	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237319	0.79800	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9545	0.86254	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARP6	70329488	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.483000	0.81158	2.592000	0.87571	0.555000	0.69702	.		0.512	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214	Intron	T	72542434	C	T	72542434	5	4	151	1	0	0	0	0	0	0	1	0	11466	579	20	2	498	2	PARP6	15	72542434	Splice_Site	SNP	C	TCGA-B0-4827-01A-02D-1421-08	28669004	72542434	29988958	61	8940											
DCUN1D3	123879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20871576	20871576	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr16:20871576A>G	ENST00000324344.4	-	3	832	c.547T>C	c.(547-549)Tac>Cac	p.Y183H	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.Y183H	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	183	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)		p.Y183H(1)		NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GTAAACCGGTAGAGATCCTTG	0.478																																																1	Substitution - Missense(1)	kidney(1)											133	137	135					16																	20871576		2201	4300	6501	SO:0001583	missense	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.547T>C	16.37:g.20871576A>G	ENSP00000319482:p.Tyr183His		B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428683	0.83667	.	.	ENSG00000188215	ENST00000324344	.	.	.	5.92	5.92	0.95590	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.88187	0.6369	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92036	0.5637	9	0.87932	D	0	-4.016	16.3662	0.83325	1.0:0.0:0.0:0.0	.	183	Q8IWE4	DCNL3_HUMAN	H	183	.	ENSP00000319482:Y183H	Y	-	1	0	DCUN1D3	20779077	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.268000	0.95675	2.274000	0.75844	0.533000	0.62120	TAC		0.478	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		G	20871576	A	G	20871576	3	3	151	1	0	0	0	0	1	0	0	0	4317	420	15	3	371	3	DCUN1D3	16	20871576	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08		20871576	69483177	62	8941											
SRCAP	10847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30734516	30734516	+	Silent	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr16:30734516C>T	ENST00000262518.4	+	24	4510	c.4125C>T	c.(4123-4125)ctC>ctT	p.L1375L	SRCAP_ENST00000344771.4_Silent_p.L1217L|SRCAP_ENST00000395059.2_Silent_p.L1313L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1375	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.L1375L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCTCTTCTCAAGCTGGTCC	0.602																																																1	Substitution - coding silent(1)	kidney(1)											91	85	87					16																	30734516		2197	4300	6497	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4125C>T	16.37:g.30734516C>T			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30734516	C	T	30734516	2	4	151	1	0	0	0	0	0	0	0	1	15140	813	29	2		2	SRCAP	16	30734516	Silent	SNP	C	TCGA-B0-4827-01A-02D-1421-08	9862940	30734516	59620237	63	8942											
LPCAT2	54947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	55565881	55565881	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr16:55565881A>T	ENST00000262134.5	+	5	882	c.698A>T	c.(697-699)aAa>aTa	p.K233I		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	233					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)	p.K233I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						ATTACTTTTAAACCAGGTGAG	0.264																																																1	Substitution - Missense(1)	kidney(1)											57	66	63					16																	55565881		2193	4281	6474	SO:0001583	missense	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.698A>T	16.37:g.55565881A>T	ENSP00000262134:p.Lys233Ile		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257252	0.80246	.	.	ENSG00000087253	ENST00000262134	D	0.95171	-3.63	5.29	5.29	0.74685	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.98080	0.9367	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99470	1.0945	10	0.87932	D	0	-33.089	15.5099	0.75772	1.0:0.0:0.0:0.0	.	233	Q7L5N7	PCAT2_HUMAN	I	233	ENSP00000262134:K233I	ENSP00000262134:K233I	K	+	2	0	LPCAT2	54123382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.882000	0.87258	2.128000	0.65567	0.459000	0.35465	AAA		0.264	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		T	55565881	A	T	55565881	3	4	151	1	0	0	0	0	1	0	0	0	8913	14	1	5	716	5	LPCAT2	16	55565881	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08	24831365	55565881	34788872	64	8943											
RANBP10	57610	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67778202	67778202	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr16:67778202C>T	ENST00000317506.3	-	4	672	c.557G>A	c.(556-558)gGc>gAc	p.G186D	RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602677.1_Missense_Mutation_p.G186D|RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000425512.2_Missense_Mutation_p.G54D|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000411657.2_Missense_Mutation_p.G69D	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	186	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.G186D(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AAGGCTGTGGCCATTCTTGGT	0.577																																																1	Substitution - Missense(1)	kidney(1)											169	127	141					16																	67778202		2198	4300	6498	SO:0001583	missense	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.557G>A	16.37:g.67778202C>T	ENSP00000316589:p.Gly186Asp		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	35	5.415539	0.96092	.	.	ENSG00000141084	ENST00000317506;ENST00000411657;ENST00000425512	T;T;T	0.64438	-0.1;-0.1;-0.1	6.08	6.08	0.98989	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.86531	0.5955	H	0.95151	3.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.89249	0.3589	10	0.87932	D	0	-17.397	20.2672	0.98462	0.0:1.0:0.0:0.0	.	54;186;69;186	B4DHL9;B4E1Y2;B4DID0;Q6VN20	.;.;.;RBP10_HUMAN	D	186;69;54	ENSP00000316589:G186D;ENSP00000416460:G69D;ENSP00000410617:G54D	ENSP00000316589:G186D	G	-	2	0	RANBP10	66335703	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GGC		0.577	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		T	67778202	C	T	67778202	3	4	151	1	0	0	0	0	1	0	0	0	13032	739	26	2	1349	2	RANBP10	16	67778202	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	12212321	67778202	22576551	65	8944											
NFATC3	4775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68208354	68208354	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr16:68208354A>G	ENST00000346183.3	+	6	1876	c.1852A>G	c.(1852-1854)Atg>Gtg	p.M618V	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.M618V|NFATC3_ENST00000329524.4_Missense_Mutation_p.M618V|NFATC3_ENST00000349223.5_Missense_Mutation_p.M618V	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	618					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.M618V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGGTCATGAAATGGTTGTGAC	0.343																																																2	Substitution - Missense(2)	kidney(2)											178	185	182					16																	68208354		2198	4300	6498	SO:0001583	missense	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1852A>G	16.37:g.68208354A>G	ENSP00000300659:p.Met618Val		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	A	6.949	0.544962	0.13312	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.11277	2.79;2.79;2.79	5.62	4.51	0.55191	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.036954	0.85682	D	0.000000	T	0.09642	0.0237	L	0.46670	1.46	0.44807	D	0.997816	B;P;B;B	0.39480	0.194;0.675;0.194;0.194	B;B;B;B	0.34779	0.026;0.189;0.026;0.026	T	0.07252	-1.0782	10	0.87932	D	0	-8.6546	7.5684	0.27894	0.5905:0.2767:0.0:0.1328	.	618;618;618;618	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	V	618;618;618;139	ENSP00000264008:M618V;ENSP00000300659:M618V;ENSP00000331324:M618V	ENSP00000331324:M618V	M	+	1	0	NFATC3	66765855	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	6.009000	0.70745	0.948000	0.37687	-0.435000	0.05868	ATG		0.343	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		G	68208354	A	G	68208354	3	3	151	1	0	0	0	0	1	0	0	0	10366	101	4	3	1874	3	NFATC3	16	68208354	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08	430152	68208354	22146399	66	8945											
POLR2A	5430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7405412	7405412	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr17:7405412T>C	ENST00000322644.6	+	15	2942	c.2543T>C	c.(2542-2544)aTt>aCt	p.I848T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	848					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.I848T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAGGGGCTCATTGACACGGCT	0.587																																																1	Substitution - Missense(1)	kidney(1)											41	36	37					17																	7405412		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2543T>C	17.37:g.7405412T>C	ENSP00000314949:p.Ile848Thr		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.398059	0.83120	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.71698	-0.59	5.92	5.92	0.95590	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90538	0.4500	10	0.87932	D	0	-10.549	15.3488	0.74368	0.0:0.0:0.0:1.0	.	848	P24928	RPB1_HUMAN	T	804;848	ENSP00000314949:I848T	ENSP00000314949:I848T	I	+	2	0	SLC35G6	7346136	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.106000	0.64597	2.274000	0.75844	0.533000	0.62120	ATT		0.587	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		C	7405412	T	C	7405412	3	2	151	1	0	0	0	0	1	0	0	0	12216	1493	52	3	2601	3	POLR2A	17	7405412	Missense_Mutation	SNP	T	TCGA-B0-4827-01A-02D-1421-08		7405412	73789798	67	8946											
MYH3	4621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10535165	10535165	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr17:10535165C>A	ENST00000583535.1	-	35	5212	c.5125G>T	c.(5125-5127)Gac>Tac	p.D1709Y	MYH3_ENST00000226209.7_Missense_Mutation_p.D1709Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1709					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.D1709Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCGTTGGAGTCCAGGAGCTCC	0.647																																																1	Substitution - Missense(1)	kidney(1)											63	63	63					17																	10535165		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5125G>T	17.37:g.10535165C>A	ENSP00000464317:p.Asp1709Tyr		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745517	0.89663	.	.	ENSG00000109063	ENST00000226209	T	0.80824	-1.42	4.85	4.85	0.62838	Myosin tail (1);	.	.	.	.	D	0.92335	0.7568	M	0.93197	3.39	0.52099	D	0.999946	D	0.76494	0.999	D	0.73708	0.981	D	0.94108	0.7368	9	0.87932	D	0	.	18.5202	0.90950	0.0:1.0:0.0:0.0	.	1709	P11055	MYH3_HUMAN	Y	1709	ENSP00000226209:D1709Y	ENSP00000226209:D1709Y	D	-	1	0	MYH3	10475890	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.613000	0.82986	2.665000	0.90641	0.561000	0.74099	GAC		0.647	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		A	10535165	C	A	10535165	3	1	151	1	0	0	0	0	1	0	0	0	10038	855	30	4	725	4	MYH3	17	10535165	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	3129753	10535165	70660045	68	8947											
RGS9	8787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	63149596	63149596	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr17:63149596C>A	ENST00000262406.9	+	2	181	c.114C>A	c.(112-114)aaC>aaA	p.N38K	RGS9_ENST00000443584.3_Missense_Mutation_p.N38K|RGS9_ENST00000449996.3_Missense_Mutation_p.N38K|RGS9_ENST00000577186.1_3'UTR	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	38	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.N38K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GAATGCAGAACCAGAGGGTCC	0.532																																																1	Substitution - Missense(1)	kidney(1)											136	141	139					17																	63149596		1961	4145	6106	SO:0001583	missense	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.114C>A	17.37:g.63149596C>A	ENSP00000262406:p.Asn38Lys		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.799102	0.31777	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T;T	0.22336	1.96;1.96;1.96	5.49	0.934	0.19477	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.682279	0.14929	N	0.290192	T	0.14056	0.0340	L	0.46157	1.445	0.27537	N	0.950907	P;P;B	0.35328	0.495;0.473;0.417	B;B;B	0.28916	0.074;0.096;0.058	T	0.15037	-1.0451	10	0.54805	T	0.06	.	4.2086	0.10500	0.16:0.5761:0.0:0.2639	.	38;38;38	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	K	38	ENSP00000262406:N38K;ENSP00000396329:N38K;ENSP00000405814:N38K	ENSP00000262406:N38K	N	+	3	2	RGS9	60580058	0.382000	0.25148	0.998000	0.56505	0.977000	0.68977	0.026000	0.13599	0.693000	0.31634	0.561000	0.74099	AAC		0.532	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		A	63149596	C	A	63149596	3	1	151	1	0	0	0	0	1	0	0	0	13319	506	18	4	120	4	RGS9	17	63149596	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	52614431	63149596	18045614	69	8948											
NOL11	25926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65735643	65735643	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr17:65735643G>C	ENST00000253247.4	+	16	1969	c.1854G>C	c.(1852-1854)aaG>aaC	p.K618N	NOL11_ENST00000535137.1_Missense_Mutation_p.K436N|SNORA38B_ENST00000363524.1_RNA	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	618					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.K618N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTTTCTTAAGTATTTGTATT	0.328																																																1	Substitution - Missense(1)	kidney(1)											91	88	89					17																	65735643		2203	4300	6503	SO:0001583	missense	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1854G>C	17.37:g.65735643G>C	ENSP00000253247:p.Lys618Asn		B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441694	0.25900	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.48201	0.82	5.0	4.01	0.46588	.	0.458821	0.25529	N	0.030052	T	0.30854	0.0778	N	0.22421	0.69	0.22601	N	0.998948	B	0.23937	0.094	B	0.19666	0.026	T	0.22977	-1.0201	10	0.66056	D	0.02	0.0049	6.651	0.22961	0.0916:0.0:0.729:0.1794	.	618	Q9H8H0	NOL11_HUMAN	N	618;436	ENSP00000253247:K618N	ENSP00000253247:K618N	K	+	3	2	NOL11	63166105	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	2.357000	0.44125	1.198000	0.43158	0.579000	0.79373	AAG		0.328	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		C	65735643	G	C	65735643	3	2	151	1	0	0	0	0	1	0	0	0	10523	1020	36	4	1916	4	NOL11	17	65735643	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	2586047	65735643	15459567	70	8949											
WIPI1	55062	broad.mit.edu;hgsc.bcm.edu	37	17	66422217	66422217	+	Splice_Site	SNP	G	G	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr17:66422217G>A	ENST00000262139.5	-	12	1291	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	RP11-120M18.2_ENST00000592030.1_RNA|MIR635_ENST00000384830.1_RNA|WIPI1_ENST00000546360.1_Splice_Site_p.P349L|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	431					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)	p.P431L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AATGCTCACAGGAGGAAACTC	0.517																																																1	Substitution - Missense(1)	kidney(1)											97	76	83					17																	66422217		2203	4300	6503	SO:0001630	splice_region_variant	55062				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"WD repeat domain containing"	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1293+1C>T	17.37:g.66422217G>A			Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160158	0.94727	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.70399	0.02;-0.48	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.84106	0.5399	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84686	0.0720	10	0.87932	D	0	-12.7522	20.04	0.97581	0.0:0.0:1.0:0.0	.	431	Q5MNZ9	WIPI1_HUMAN	L	431;349	ENSP00000262139:P431L;ENSP00000437345:P349L	ENSP00000262139:P431L	P	-	2	0	WIPI1	63933812	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.955000	0.93058	2.733000	0.93635	0.655000	0.94253	CCT		0.517	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983	Missense_Mutation	A	66422217	G	A	66422217	5	1	151	1	0	0	0	0	0	0	1	0	17375	1014	35	2	56	2	WIPI1	17	66422217	Splice_Site	SNP	G	TCGA-B0-4827-01A-02D-1421-08	686574	66422217	14772993	71	8950											
ABCA10	10349	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	67189998	67189998	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr17:67189998A>T	ENST00000269081.4	-	14	2387	c.1478T>A	c.(1477-1479)tTt>tAt	p.F493Y	ABCA10_ENST00000416101.2_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	493	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F493Y(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATTTTAGCAAATACCCTGAG	0.333																																																1	Substitution - Missense(1)	kidney(1)											132	135	134					17																	67189998		2203	4300	6503	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1478T>A	17.37:g.67189998A>T	ENSP00000269081:p.Phe493Tyr		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059916	0.76074	.	.	ENSG00000154263	ENST00000269081	T	0.38887	1.11	3.71	2.54	0.30619	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.33235	U	0.005137	T	0.36880	0.0983	L	0.31578	0.945	0.80722	D	1	D;P	0.60575	0.988;0.872	P;P	0.52454	0.699;0.699	T	0.05632	-1.0873	10	0.27785	T	0.31	.	9.3042	0.37865	0.84:0.0:0.0:0.16	.	493;493	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	Y	493	ENSP00000269081:F493Y	ENSP00000269081:F493Y	F	-	2	0	ABCA10	64701593	1.000000	0.71417	0.422000	0.26621	0.989000	0.77384	6.316000	0.72857	1.531000	0.49152	0.455000	0.32223	TTT		0.333	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		T	67189998	A	T	67189998	3	4	151	1	0	0	0	0	1	0	0	0	29	14	1	5	3261	5	ABCA10	17	67189998	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08	767781	67189998	14005212	72	8951											
TSEN54	283989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73519837	73519837	+	Silent	SNP	C	C	G			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr17:73519837C>G	ENST00000333213.6	+	10	1443	c.1407C>G	c.(1405-1407)ccC>ccG	p.P469P	LLGL2_ENST00000578363.1_5'Flank|LLGL2_ENST00000392550.3_5'Flank|LLGL2_ENST00000167462.5_5'Flank|LLGL2_ENST00000375227.4_5'Flank	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	469					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)		p.P469P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGCAAACCCTATGCCCGGA	0.552																																																1	Substitution - coding silent(1)	kidney(1)											59	57	58					17																	73519837		2203	4300	6503	SO:0001819	synonymous_variant	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1407C>G	17.37:g.73519837C>G			Q86WV3|Q86XE4|Q8N9H2	Silent	SNP	ENST00000333213.6	37	CCDS11724.1																																																																																				0.552	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		G	73519837	C	G	73519837	2	3	151	1	0	0	0	0	0	0	0	1	16619	668	24	4		4	TSEN54	17	73519837	Silent	SNP	C	TCGA-B0-4827-01A-02D-1421-08	6329839	73519837	7675373	73	8952											
THEG	51298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	362387	362387	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr19:362387T>A	ENST00000342640.4	-	8	995	c.953A>T	c.(952-954)gAt>gTt	p.D318V	THEG_ENST00000346878.2_Missense_Mutation_p.D294V	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	318					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.D318V(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCGAGGATCTCGGTCAGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											104	96	99					19																	362387		2203	4300	6503	SO:0001583	missense	51298			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.953A>T	19.37:g.362387T>A	ENSP00000340088:p.Asp318Val		A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	CCDS12025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.72|14.72	2.618289|2.618289	0.46736|0.46736	.|.	.|.	ENSG00000105549|ENSG00000105549	ENST00000342640;ENST00000346878|ENST00000530711	T;T|.	0.29397|.	1.57;1.57|.	3.85|3.85	-0.119|-0.119	0.13543|0.13543	.|.	0.925155|.	0.09166|.	N|.	0.839514|.	T|T	0.39937|0.39937	0.1097|0.1097	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	D;P|.	0.57899|.	0.981;0.731|.	P;B|.	0.54026|.	0.74;0.186|.	T|T	0.42015|0.42015	-0.9476|-0.9476	10|6	0.59425|0.87932	D|D	0.04|0	-22.8218|-22.8218	3.7178|3.7178	0.08445|0.08445	0.0:0.173:0.4606:0.3664|0.0:0.173:0.4606:0.3664	.|.	294;318|.	Q9P2T0-2;Q9P2T0|.	.;THEG_HUMAN|.	V|F	318;294|96	ENSP00000340088:D318V;ENSP00000264820:D294V|.	ENSP00000340088:D318V|ENSP00000431699:I96F	D|I	-|-	2|1	0|0	THEG|THEG	313387|313387	0.036000|0.036000	0.19791|0.19791	0.814000|0.814000	0.32528|0.32528	0.873000|0.873000	0.50193|0.50193	-0.241000|-0.241000	0.08940|0.08940	0.108000|0.108000	0.17862|0.17862	0.413000|0.413000	0.27773|0.27773	GAT|ATC		0.597	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			A	362387	T	A	362387	3	1	151	1	0	0	0	0	1	0	0	0	15862	1435	50	5	190	5	THEG	19	362387	Missense_Mutation	SNP	T	TCGA-B0-4827-01A-02D-1421-08		362387	58766596	74	8953											
C19orf21	126353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	757806	757806	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr19:757806C>T	ENST00000215582.6	+	2	963	c.860C>T	c.(859-861)aCc>aTc	p.T287I		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	287					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T287I(1)									TCCCCGGGGACCCCCAAGGAG	0.657																																																1	Substitution - Missense(1)	kidney(1)											44	46	46					19																	757806		2203	4300	6503	SO:0001583	missense	126353			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.860C>T	19.37:g.757806C>T	ENSP00000215582:p.Thr287Ile			Missense_Mutation	SNP	ENST00000215582.6	37	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	9.082	0.999564	0.19121	.	.	ENSG00000099812	ENST00000215582	T	0.14766	2.48	4.46	2.19	0.27852	.	1.793870	0.03008	N	0.149009	T	0.12860	0.0312	L	0.51422	1.61	0.09310	N	1	B	0.31318	0.319	B	0.25759	0.063	T	0.26573	-1.0099	10	0.33141	T	0.24	-2.5429	2.9926	0.05988	0.2978:0.461:0.1486:0.0926	.	287	Q8IVT2	CS021_HUMAN	I	287	ENSP00000215582:T287I	ENSP00000215582:T287I	T	+	2	0	C19orf21	708806	0.000000	0.05858	0.013000	0.15412	0.058000	0.15608	-0.874000	0.04210	0.870000	0.35726	0.491000	0.48974	ACC		0.657	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		T	757806	C	T	757806	3	4	151	1	0	0	0	0	1	0	0	0	1915	507	18	2	862	2	C19orf21	19	757806	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	395419	757806	58371177	75	8954											
ATP8B3	148229	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1807166	1807166	+	Splice_Site	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr19:1807166C>T	ENST00000310127.6	-	6	854		c.e6+1		ATP8B3_ENST00000539485.1_Splice_Site|ATP8B3_ENST00000525591.1_Splice_Site|ATP8B3_ENST00000526092.2_Splice_Site	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3						binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.?(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGCACTCACCATGTCGTCC	0.662																																																1	Unknown(1)	kidney(1)											110	122	118					19																	1807166		2135	4243	6378	SO:0001630	splice_region_variant	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.615+1G>A	19.37:g.1807166C>T			Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Splice_Site	SNP	ENST00000310127.6	37	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430001	0.25726	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339;ENST00000533993	.	.	.	3.9	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8619	0.70387	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8B3	1758166	1.000000	0.71417	0.519000	0.27824	0.025000	0.11179	5.308000	0.65768	1.696000	0.51158	0.561000	0.74099	.		0.662	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813	Intron	T	1807166	C	T	1807166	5	4	151	1	0	0	0	0	0	0	1	0	1196	521	18	2	3430	2	ATP8B3	19	1807166	Splice_Site	SNP	C	TCGA-B0-4827-01A-02D-1421-08	1049360	1807166	57321817	76	8955											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9066745	9066745	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr19:9066745G>T	ENST00000397910.4	-	3	20904	c.20701C>A	c.(20701-20703)Caa>Aaa	p.Q6901K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6903	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q6901K(2)|p.Q2534K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGAGGATTGTGACCCATGT	0.488																																																3	Substitution - Missense(3)	kidney(3)											271	258	262					19																	9066745		2121	4236	6357	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20701C>A	19.37:g.9066745G>T	ENSP00000381008:p.Gln6901Lys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.408	0.260390	0.10239	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.57	0.226	0.15353	.	.	.	.	.	T	0.16385	0.0394	L	0.29908	0.895	.	.	.	B	0.31968	0.349	B	0.34385	0.181	T	0.26677	-1.0096	8	0.87932	D	0	.	2.8799	0.05644	0.1613:0.0:0.5667:0.2721	.	6901	B5ME49	.	K	6901	ENSP00000381008:Q6901K	ENSP00000381008:Q6901K	Q	-	1	0	MUC16	8927745	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.046000	0.11983	0.125000	0.18397	0.407000	0.27541	CAA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9066745	G	T	9066745	3	4	151	1	0	0	0	0	1	0	0	0	9975	1386	48	4	23150	4	MUC16	19	9066745	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08	7259579	9066745	50062238	77	8956											
OR10H2	26538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15839672	15839672	+	Silent	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr19:15839672C>T	ENST00000305899.3	+	1	839	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T273T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					AGGGTGACACCCTGATGGCCA	0.552																																																1	Substitution - coding silent(1)	kidney(1)											150	120	130					19																	15839672		2203	4300	6503	SO:0001819	synonymous_variant	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.819C>T	19.37:g.15839672C>T			Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	CCDS12333.1																																																																																				0.552	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			T	15839672	C	T	15839672	2	4	151	1	0	0	0	0	0	0	0	1	10908	610	22	2		2	OR10H2	19	15839672	Silent	SNP	C	TCGA-B0-4827-01A-02D-1421-08	6772927	15839672	43289311	78	8957											
RINL	126432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39360340	39360340	+	Silent	SNP	G	G	C			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr19:39360340G>C	ENST00000591812.1	-	10	1433	c.1347C>G	c.(1345-1347)ccC>ccG	p.P449P	RINL_ENST00000340740.3_Silent_p.P335P|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Silent_p.P335P			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	449	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.P335P(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						CGGCCCCCAGGGGATCTGGGA	0.612											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											47	55	52					19																	39360340		2203	4300	6503	SO:0001819	synonymous_variant	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1347C>G	19.37:g.39360340G>C		885	B4DPG5	Silent	SNP	ENST00000591812.1	37	CCDS59386.1																																																																																				0.612	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		C	39360340	G	C	39360340	2	2	151	1	0	0	0	0	0	0	0	1	13381	1219	43	4		4	RINL	19	39360340	Silent	SNP	G	TCGA-B0-4827-01A-02D-1421-08	23520668	39360340	19768643	79	8958											
AKT2	208	broad.mit.edu	37	19	40742001	40742001	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr19:40742001T>C	ENST00000392038.2	-	11	1269	c.971A>G	c.(970-972)gAc>gGc	p.D324G	AKT2_ENST00000424901.1_Missense_Mutation_p.D324G|AKT2_ENST00000311278.6_Missense_Mutation_p.D281G|AKT2_ENST00000579047.1_Missense_Mutation_p.D262G	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.D324G(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			ATAGTCATTGTCCTCCAGCAC	0.637			A		"ovarian, pancreatic "																																		Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	1	Substitution - Missense(1)	kidney(1)											72	58	62					19																	40742001		2203	4300	6503	SO:0001583	missense	208			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.971A>G	19.37:g.40742001T>C	ENSP00000375892:p.Asp324Gly		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661738	0.88154	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.20069	2.1;2.1;2.1	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042391	0.85682	D	0.000000	T	0.18173	0.0436	N	0.00778	-1.195	0.80722	D	1	B;B;D	0.76494	0.02;0.11;0.999	B;B;D	0.77004	0.116;0.196;0.989	T	0.56444	-0.7978	10	0.39692	T	0.17	.	14.8659	0.70416	0.0:0.0:0.0:1.0	.	262;281;324	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	G	324;225;324;281;144	ENSP00000375892:D324G;ENSP00000399532:D324G;ENSP00000309428:D281G	ENSP00000309428:D281G	D	-	2	0	AKT2	45433841	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.994000	0.88315	2.159000	0.67721	0.459000	0.35465	GAC		0.637	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		C	40742001	T	C	40742001	3	2	151	1	0	0	0	0	1	0	0	0	480	1667	58	3	490	3	AKT2	19	40742001	Missense_Mutation	SNP	T	TCGA-B0-4827-01A-02D-1421-08	1381661	40742001	18386982	80	8959											
CYP2A13	1553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41594410	41594410	+	Silent	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr19:41594410C>T	ENST00000330436.3	+	1	34	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	12					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.L12L(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GGTGACCTTGCTGGCCTGCCT	0.577																																																1	Substitution - coding silent(1)	kidney(1)											71	59	63					19																	41594410		2203	4300	6503	SO:0001819	synonymous_variant	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.34C>T	19.37:g.41594410C>T			Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	CCDS12571.1																																																																																				0.577	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		T	41594410	C	T	41594410	2	4	151	1	0	0	0	0	0	0	0	1	4163	796	28	2		2	CYP2A13	19	41594410	Silent	SNP	C	TCGA-B0-4827-01A-02D-1421-08	852409	41594410	17534573	81	8960											
C20orf196	149840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	5843933	5843933	+	Missense_Mutation	SNP	G	G	T	rs372237912		TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr20:5843933G>T	ENST00000303142.6	+	3	529	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	148								p.A148S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						TTTTCAAATGGCCCGGGTGAT	0.517																																																1	Substitution - Missense(1)	kidney(1)											53	52	53					20																	5843933		2203	4300	6503	SO:0001583	missense	149840			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.442G>T	20.37:g.5843933G>T	ENSP00000305875:p.Ala148Ser		A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544914	0.86022	.	.	ENSG00000171984	ENST00000303142;ENST00000442185	T;T	0.59502	0.26;0.26	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000006	T	0.73505	0.3595	M	0.61703	1.905	0.39766	D	0.972099	D	0.89917	1.0	D	0.91635	0.999	T	0.76594	-0.2902	10	0.87932	D	0	-13.9098	15.2004	0.73132	0.0:0.0:1.0:0.0	.	148	Q8IYI0	CT196_HUMAN	S	148;195	ENSP00000305875:A148S;ENSP00000410534:A195S	ENSP00000305875:A148S	A	+	1	0	C20orf196	5791933	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.981000	0.63819	2.657000	0.90304	0.655000	0.94253	GCC		0.517	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		T	5843933	G	T	5843933	3	4	151	1	0	0	0	0	1	0	0	0	2103	1203	42	4	448	4	C20orf196	20	5843933	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08		5843933	57181587	82	8961											
PLCG1	5335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39798840	39798840	+	Silent	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr20:39798840C>T	ENST00000373271.1	+	24	3144	c.2739C>T	c.(2737-2739)gcC>gcT	p.A913A	PLCG1_ENST00000373272.2_Silent_p.A913A|PLCG1_ENST00000244007.3_Silent_p.A913A	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	913	PH 2; second part. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.A913A(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ATGTTGCTGCCGACTCACAGG	0.612																																																1	Substitution - coding silent(1)	kidney(1)											89	90	90					20																	39798840		2203	4300	6503	SO:0001819	synonymous_variant	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2739C>T	20.37:g.39798840C>T			B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	CCDS13314.1																																																																																				0.612	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		T	39798840	C	T	39798840	2	4	151	1	0	0	0	0	0	0	0	1	12037	639	23	1		1	PLCG1	20	39798840	Silent	SNP	C	TCGA-B0-4827-01A-02D-1421-08	33954907	39798840	23226680	83	8962											
SAMD10	140700	broad.mit.edu	37	20	62607109	62607109	+	Silent	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr20:62607109C>T	ENST00000369886.3	-	4	696	c.522G>A	c.(520-522)gtG>gtA	p.V174V	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron|SAMD10_ENST00000498830.1_5'UTR	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	174	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.							p.V174V(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTGCTGCAGCACCTCCTGCC	0.687																																																1	Substitution - coding silent(1)	kidney(1)											26	31	29					20																	62607109		2201	4297	6498	SO:0001819	synonymous_variant	140700				CCDS13549.1	20q13.33	2013-01-10	2004-07-15	2004-07-16	ENSG00000130590	ENSG00000130590		"Sterile alpha motif (SAM) domain containing"	16129	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 136"	C20orf136			Standard	NM_080621		Approved		uc002yhm.2	Q9BYL1	OTTHUMG00000033011	ENST00000369886.3:c.522G>A	20.37:g.62607109C>T				Silent	SNP	ENST00000369886.3	37	CCDS13549.1																																																																																				0.687	SAMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080255.1	NM_080621		T	62607109	C	T	62607109	2	4	151	1	0	0	0	0	0	0	0	1	13821	697	25	2		2	SAMD10	20	62607109	Silent	SNP	C	TCGA-B0-4827-01A-02D-1421-08	22808269	62607109	418411	84	8963											
CBR3	874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37518699	37518699	+	Silent	SNP	C	C	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chr21:37518699C>A	ENST00000290354.5	+	3	1004	c.723C>A	c.(721-723)atC>atA	p.I241I	CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608690.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	241					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)	p.I241I(1)		kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	AAGACAGCATCAGGACTGTGG	0.567																																																1	Substitution - coding silent(1)	kidney(1)											92	90	91					21																	37518699		2203	4300	6503	SO:0001819	synonymous_variant	874			AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1549	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 2"	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.723C>A	21.37:g.37518699C>A			Q6FHP2	Silent	SNP	ENST00000290354.5	37	CCDS13642.1																																																																																				0.567	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			A	37518699	C	A	37518699	2	1	151	1	0	0	0	0	0	0	0	1	2711	816	29	4		4	CBR3	21	37518699	Silent	SNP	C	TCGA-B0-4827-01A-02D-1421-08		37518699	10611196	85	8964											
ZFX	7543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	24228654	24228654	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chrX:24228654G>A	ENST00000379177.1	+	11	2006	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	ZFX_ENST00000338565.3_Missense_Mutation_p.E477K|ZFX_ENST00000379188.3_Missense_Mutation_p.E527K|ZFX_ENST00000539115.1_Missense_Mutation_p.E298K|ZFX_ENST00000304543.5_Missense_Mutation_p.E527K|ZFX_ENST00000540034.1_Missense_Mutation_p.E566K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	527					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.E527K(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTGTGAATACGAGACAGCTGA	0.443																																					Esophageal Squamous(20;306 562 7346 32868 37983)											1	Substitution - Missense(1)	kidney(1)											140	129	133					X																	24228654		2203	4300	6503	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1579G>A	X.37:g.24228654G>A	ENSP00000368475:p.Glu527Lys		B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862392	0.71949	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000002	T	0.32941	0.0846	N	0.02368	-0.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.58154	-0.7686	10	0.62326	D	0.03	-8.3466	18.0859	0.89457	0.0:0.0:1.0:0.0	.	566;249;527	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	K	298;527;249;527;527;566;477	ENSP00000438233:E298K;ENSP00000368486:E527K;ENSP00000368475:E527K;ENSP00000304985:E527K;ENSP00000441382:E566K;ENSP00000343384:E477K	ENSP00000304985:E527K	E	+	1	0	ZFX	24138575	1.000000	0.71417	0.974000	0.42286	0.979000	0.70002	9.869000	0.99810	2.207000	0.71202	0.600000	0.82982	GAG		0.443	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		A	24228654	G	A	24228654	3	1	151	1	0	0	0	0	1	0	0	0	17666	1059	37	1	1664	1	ZFX	23	24228654	Missense_Mutation	SNP	G	TCGA-B0-4827-01A-02D-1421-08		24228654	131041906	86	8965											
HDX	139324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	83724059	83724059	+	Silent	SNP	T	T	C			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chrX:83724059T>C	ENST00000297977.5	-	3	783	c.672A>G	c.(670-672)ccA>ccG	p.P224P	HDX_ENST00000506585.2_Silent_p.P166P|HDX_ENST00000373177.2_Silent_p.P224P	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	224						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P224P(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GAATCCCAACTGGTTCAATTT	0.418																																					Pancreas(53;231 1169 36156 43751 51139)											1	Substitution - coding silent(1)	kidney(1)											136	119	124					X																	83724059		2203	4300	6503	SO:0001819	synonymous_variant	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.672A>G	X.37:g.83724059T>C			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	CCDS35342.1																																																																																				0.418	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		C	83724059	T	C	83724059	2	2	151	1	0	0	0	0	0	0	0	1	7028	1567	55	3		3	HDX	23	83724059	Silent	SNP	T	TCGA-B0-4827-01A-02D-1421-08	59495405	83724059	71546501	87	8966											
TBC1D8B	54885	broad.mit.edu;hgsc.bcm.edu	37	X	106092530	106092530	+	Intron	SNP	G	G	A			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chrX:106092530G>A	ENST00000357242.5	+	12	2011				TBC1D8B_ENST00000310452.2_Silent_p.E631E|TBC1D8B_ENST00000276175.3_Intron	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)								calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.E631E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATTGGGGAGAAGTAGAAAA	0.333																																																1	Substitution - coding silent(1)	kidney(1)											40	43	42					X																	106092530		2201	4298	6499	SO:0001627	intron_variant	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1838-725G>A	X.37:g.106092530G>A			B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Silent	SNP	ENST00000357242.5	37	CCDS14522.1																																																																																				0.333	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		A	106092530	G	A	106092530	1	1	151	0	1	0	0	0	0	0	0	0	15631	933	33	2		2	TBC1D8B	23	106092530	Intron	SNP	G	TCGA-B0-4827-01A-02D-1421-08	22368471	106092530	49178030	88	8967											
GPR112	139378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135431578	135431578	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chrX:135431578A>T	ENST00000394143.1	+	6	6004	c.5713A>T	c.(5713-5715)Aat>Tat	p.N1905Y	GPR112_ENST00000412101.1_Missense_Mutation_p.N1700Y|GPR112_ENST00000287534.4_Missense_Mutation_p.N1842Y|GPR112_ENST00000394141.1_Missense_Mutation_p.N1700Y|GPR112_ENST00000370652.1_Missense_Mutation_p.N1905Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1905					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N1905Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCTACATCCAATGAGATGGA	0.433																																																1	Substitution - Missense(1)	kidney(1)											140	134	136					X																	135431578		2203	4299	6502	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5713A>T	X.37:g.135431578A>T	ENSP00000377699:p.Asn1905Tyr		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	7.635	0.679658	0.14907	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39997	1.09;1.09;1.05;1.15;1.05	3.78	1.17	0.20885	.	.	.	.	.	T	0.26738	0.0654	N	0.24115	0.695	0.09310	N	1	P;P;P	0.48016	0.815;0.904;0.845	B;B;B	0.39935	0.178;0.314;0.166	T	0.10154	-1.0642	9	0.87932	D	0	.	7.738	0.28825	0.6141:0.3859:0.0:0.0	.	1842;1700;1905	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Y	1905;1905;1700;1842;1700	ENSP00000377699:N1905Y;ENSP00000359686:N1905Y;ENSP00000416526:N1700Y;ENSP00000287534:N1842Y;ENSP00000377697:N1700Y	ENSP00000287534:N1842Y	N	+	1	0	GPR112	135259244	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	0.376000	0.20535	-0.048000	0.13401	0.430000	0.28490	AAT		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			T	135431578	A	T	135431578	3	4	151	1	0	0	0	0	1	0	0	0	6631	130	5	5	5723	5	GPR112	23	135431578	Missense_Mutation	SNP	A	TCGA-B0-4827-01A-02D-1421-08	29339048	135431578	19838982	89	8968											
MAGEC1	9947	broad.mit.edu;hgsc.bcm.edu	37	X	140994211	140994211	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chrX:140994211C>T	ENST00000285879.4	+	4	1307	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	341								p.P341S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGATTCCTATGACCTC	0.468										HNSCC(15;0.026)																																						1	Substitution - Missense(1)	kidney(1)											120	123	122					X																	140994211		2202	4295	6497	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1021C>T	X.37:g.140994211C>T	ENSP00000285879:p.Pro341Ser		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	9.043	0.990060	0.18966	.	.	ENSG00000155495	ENST00000285879	T	0.06608	3.28	.	.	.	.	.	.	.	.	T	0.04998	0.0134	N	0.08118	0	0.80722	D	1	P	0.48350	0.909	P	0.50440	0.641	T	0.50849	-0.8779	8	0.66056	D	0.02	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	341	O60732	MAGC1_HUMAN	S	341	ENSP00000285879:P341S	ENSP00000285879:P341S	P	+	1	0	MAGEC1	140821877	0.133000	0.22466	0.045000	0.18777	0.045000	0.14185	1.674000	0.37544	0.148000	0.19059	0.150000	0.16122	CCT		0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		T	140994211	C	T	140994211	3	4	151	1	0	0	0	0	1	0	0	0	9182	855	30	2	1027	2	MAGEC1	23	140994211	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	5562633	140994211	14276349	90	8969											
GABRE	2564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151123279	151123279	+	Missense_Mutation	SNP	C	C	T	rs80186670	byFrequency	TCGA-B0-4827-01A-02D-1421-08	TCGA-B0-4827-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02f83f9a-4e4d-44f3-8d67-b4fc2d35102b	bb38d638-fc05-4d25-bbb9-180592399803	g.chrX:151123279C>T	ENST00000370328.3	-	9	1468	c.1415G>A	c.(1414-1416)cGc>cAc	p.R472H	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR|AF274855.1_ENST00000582865.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	472					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R359H(1)|p.R472H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GATGCAGAGGCGGCCCTGCTG	0.522													C|||	2	0.000529801	0.0	0.0014	3775	,	,		13567	0.0		0.0	False		,,,				2504	0.001															2	Substitution - Missense(2)	kidney(2)						C	HIS/ARG	2,3833		0,2,0,1630,571	43	43	43		1415	2.8	1	X	dbSNP_131	43	15,6713		0,10,5,2418,1867	yes	missense	GABRE	NM_004961.3	29	0,12,5,4048,2438	TT,TC,T,CC,C		0.2229,0.0522,0.1609	probably-damaging	472/507	151123279	17,10546	2203	4300	6503	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1415G>A	X.37:g.151123279C>T	ENSP00000359353:p.Arg472His		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.75	2.331461	0.41297	5.22E-4	0.002229	ENSG00000102287	ENST00000370328	D	0.85629	-2.01	5.68	2.79	0.32731	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.918420	0.09130	N	0.844470	T	0.81009	0.4734	L	0.60904	1.88	0.58432	D	0.999999	B	0.32800	0.385	B	0.29353	0.101	T	0.71576	-0.4551	10	0.66056	D	0.02	.	6.8835	0.24187	0.0:0.6742:0.0:0.3258	.	472	P78334	GBRE_HUMAN	H	472	ENSP00000359353:R472H	ENSP00000359353:R472H	R	-	2	0	GABRE	150873935	1.000000	0.71417	0.967000	0.41034	0.720000	0.41350	3.321000	0.51999	0.130000	0.18549	-0.191000	0.12829	CGC		0.522	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		T	151123279	C	T	151123279	3	4	151	1	0	0	0	0	1	0	0	0	6172	768	27	1	109	1	GABRE	23	151123279	Missense_Mutation	SNP	C	TCGA-B0-4827-01A-02D-1421-08	10129068	151123279	4147281	91	8970											
PRAMEF7	441871	hgsc.bcm.edu	37	1	12980127	12980127	+	Missense_Mutation	SNP	C	C	T	rs1832597	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:12980127C>T	ENST00000361079.2	+	4	1402	c.1319C>T	c.(1318-1320)cCg>cTg	p.P440L	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	440					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)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	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)		ATGAAGACACCGAGGGACTTA	0.592																																																0													128	125	126					1																	12980127		1875	3788	5663	SO:0001583	missense	441871				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1319C>T	1.37:g.12980127C>T	ENSP00000354371:p.Pro440Leu		B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	CCDS30593.1	249	0.11401098901098901	59	0.11991869918699187	36	0.09944751381215469	45	0.07867132867132867	109	0.1437994722955145	.	0.011	-1.699667	0.00725	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.42513	0.97;0.97	1.68	0.406	0.16366	.	0.340702	0.23365	N	0.048961	T	0.00039	0.0001	N	0.00050	-2.405	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.19943	-1.0290	9	0.02654	T	1	.	1.6667	0.02803	0.2892:0.1932:0.0:0.5176	.	440	Q5VXH5	PRAM7_HUMAN	L	440	ENSP00000354371:P440L;ENSP00000328915:P440L	ENSP00000328915:P440L	P	+	2	0	PRAMEF7	12902714	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	0.019000	0.13444	-0.295000	0.08960	-0.848000	0.03037	CCG		0.592	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		T	12980127	C	T	12980127	3	4	152	1	0	0	0	0	1	0	0	0	12444	652	23	1	1329	1	PRAMEF7	1	12980127	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10		12980127	236270494	1	8971											
SRRM1	10250	hgsc.bcm.edu	37	1	24995884	24995884	+	Silent	SNP	C	C	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:24995884C>G	ENST00000323848.9	+	14	2325	c.2010C>G	c.(2008-2010)acC>acG	p.T670T	SRRM1_ENST00000447431.2_Silent_p.T682T|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Silent_p.T679T	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	670	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCCGCTCTACCCGGGAGGCCC	0.562																																					Ovarian(68;897 1494 3282 17478)											0													62	61	61					1																	24995884		2203	4300	6503	SO:0001819	synonymous_variant	10250			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2010C>G	1.37:g.24995884C>G			O60585|Q5VVN4	Silent	SNP	ENST00000323848.9	37	CCDS255.1																																																																																				0.562	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		G	24995884	C	G	24995884	2	3	152	1	0	0	0	0	0	0	0	1	15173	610	22	4		4	SRRM1	1	24995884	Silent	SNP	C	TCGA-B0-4828-01A-01D-1361-10	12015757	24995884	224254737	2	8972											
ZNHIT6	54680	hgsc.bcm.edu;ucsc.edu	37	1	86123567	86123567	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:86123567C>G	ENST00000370574.3	-	9	1468	c.1335G>C	c.(1333-1335)ttG>ttC	p.L445F	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.L406F			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	445					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TGGATCCTTTCAATACCACAT	0.299																																																0													121	123	122					1																	86123567		2202	4292	6494	SO:0001583	missense	54680			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1335G>C	1.37:g.86123567C>G	ENSP00000359606:p.Leu445Phe		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400446	0.62177	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.56611	0.53;0.45	5.67	1.48	0.22813	.	0.000000	0.64402	D	0.000004	T	0.50034	0.1592	L	0.52905	1.665	0.41281	D	0.986912	D;D	0.89917	0.999;1.0	D;D	0.85130	0.985;0.997	T	0.51996	-0.8634	10	0.59425	D	0.04	-10.4535	6.6773	0.23102	0.0:0.5322:0.0:0.4678	.	406;445	B4DP13;Q9NWK9	.;BCD1_HUMAN	F	406;445	ENSP00000414344:L406F;ENSP00000359606:L445F	ENSP00000359606:L445F	L	-	3	2	ZNHIT6	85896155	0.998000	0.40836	0.949000	0.38748	0.981000	0.71138	0.247000	0.18179	0.057000	0.16193	-0.150000	0.13652	TTG		0.299	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		G	86123567	C	G	86123567	3	3	152	1	0	0	0	0	1	0	0	0	18214	825	29	4	85	4	ZNHIT6	1	86123567	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	61127683	86123567	163127054	3	8973	73	2									
ZNHIT6	54680	hgsc.bcm.edu;ucsc.edu	37	1	86123569	86123569	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:86123569A>T	ENST00000370574.3	-	9	1466	c.1333T>A	c.(1333-1335)Ttg>Atg	p.L445M	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.L406M			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	445					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GATCCTTTCAATACCACATGT	0.294																																																0													121	122	122					1																	86123569		2202	4292	6494	SO:0001583	missense	54680			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1333T>A	1.37:g.86123569A>T	ENSP00000359606:p.Leu445Met		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833741	0.71258	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.56275	0.55;0.47	5.67	4.55	0.56014	.	0.000000	0.64402	D	0.000004	T	0.55497	0.1924	L	0.52905	1.665	0.40469	D	0.980326	D;D	0.89917	0.999;1.0	D;D	0.87578	0.989;0.998	T	0.60979	-0.7155	10	0.59425	D	0.04	-10.4535	10.1145	0.42583	0.9235:0.0:0.0765:0.0	.	406;445	B4DP13;Q9NWK9	.;BCD1_HUMAN	M	406;445	ENSP00000414344:L406M;ENSP00000359606:L445M	ENSP00000359606:L445M	L	-	1	2	ZNHIT6	85896157	0.968000	0.33430	0.875000	0.34327	0.982000	0.71751	2.312000	0.43726	1.091000	0.41335	0.533000	0.62120	TTG		0.294	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		T	86123569	A	T	86123569	3	4	152	1	0	0	0	0	1	0	0	0	18214	98	4	5	87	5	ZNHIT6	1	86123569	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	2	86123569	163127052	4	8974	73	2									
HIAT1	64645	hgsc.bcm.edu;ucsc.edu	37	1	100503799	100503799	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:100503799G>C	ENST00000370152.3	+	1	147	c.11G>C	c.(10-12)gGg>gCg	p.G4A	RP4-714D9.5_ENST00000564623.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	4					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATGACCCAGGGGAAGAAGAAG	0.637																																																0													67	60	62					1																	100503799		2180	4243	6423	SO:0001583	missense	64645			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.11G>C	1.37:g.100503799G>C	ENSP00000359171:p.Gly4Ala		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	CCDS763.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416469	0.42918	.	.	ENSG00000156875	ENST00000370152	T	0.31247	1.5	4.8	2.91	0.33838	Major facilitator superfamily domain, general substrate transporter (1);	0.175896	0.37623	N	0.002003	T	0.06962	0.0177	L	0.29908	0.895	0.32793	N	0.500945	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.12103	T	0.63	-4.6341	8.593	0.33699	0.1813:0.0:0.8187:0.0	.	4	Q96MC6	HIAT1_HUMAN	A	4	ENSP00000359171:G4A	ENSP00000359171:G4A	G	+	2	0	HIAT1	100276387	0.998000	0.40836	0.997000	0.53966	0.995000	0.86356	0.865000	0.27940	1.003000	0.39130	0.462000	0.41574	GGG		0.637	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		C	100503799	G	C	100503799	3	2	152	1	0	0	0	0	1	0	0	0	7099	1232	43	4	13	4	HIAT1	1	100503799	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	14380230	100503799	148746822	5	8975											
OTUD7B	56957	hgsc.bcm.edu;ucsc.edu	37	1	149921598	149921598	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:149921598C>T	ENST00000369135.4	-	9	1351	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	353	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGATCATAGGCGAGCACCAGA	0.517																																																0													77	78	78					1																	149921598		1985	4175	6160	SO:0001583	missense	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1057G>A	1.37:g.149921598C>T	ENSP00000358131:p.Ala353Thr		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587529	0.86851	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.31247	1.5;1.5	5.05	5.05	0.67936	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.35542	1.07	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.02539	-1.1144	9	.	.	.	-11.681	17.5711	0.87934	0.0:1.0:0.0:0.0	.	353	Q6GQQ9	OTU7B_HUMAN	T	353	ENSP00000358131:A353T;ENSP00000408231:A353T	.	A	-	1	0	OTUD7B	148188222	1.000000	0.71417	0.992000	0.48379	0.835000	0.47333	7.320000	0.79064	2.633000	0.89246	0.591000	0.81541	GCC		0.517	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		T	149921598	C	T	149921598	3	4	152	1	0	0	0	0	1	0	0	0	11321	768	27	1	1490	1	OTUD7B	1	149921598	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	49417799	149921598	99329023	6	8976											
USP21	27005	hgsc.bcm.edu;ucsc.edu	37	1	161134659	161134660	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:161134659_161134660insA	ENST00000289865.8	+	11	1640_1641	c.1419_1420insA	c.(1420-1422)aaafs	p.K474fs	PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368002.3_Frame_Shift_Ins_p.K474fs|USP21_ENST00000368001.1_Frame_Shift_Ins_p.K474fs|PPOX_ENST00000432542.2_5'Flank|PPOX_ENST00000535223.1_5'Flank|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000544598.1_5'Flank|PPOX_ENST00000352210.5_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	474	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGCTCCATCAAAAAAAGTTC	0.515																																																0																																										SO:0001589	frameshift_variant	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1426dupA	1.37:g.161134666_161134666dupA	ENSP00000289865:p.Lys474fs		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Frame_Shift_Ins	INS	ENST00000289865.8	37	CCDS30920.1																																																																																				0.515	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			A	161134660	-	A	161134659	7	5	152	1	0	1	1	0	0	0	0	0	17058	816	29	0	1457	0	USP21	1	161134659	Frame_Shift_Ins	INS	-	TCGA-B0-4828-01A-01D-1361-10	11213061	161134659	88115962	7	8977											
PLEKHA6	22874	hgsc.bcm.edu	37	1	204242841	204242841	+	Silent	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:204242841T>C	ENST00000272203.3	-	3	331	c.15A>G	c.(13-15)acA>acG	p.T5T	PLEKHA6_ENST00000414478.1_Silent_p.T5T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	5										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTTTCCCACCTGTTTTATTGG	0.527																																																0													147	133	138					1																	204242841		2203	4300	6503	SO:0001819	synonymous_variant	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.15A>G	1.37:g.204242841T>C			A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	CCDS1444.1																																																																																				0.527	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		C	204242841	T	C	204242841	2	2	152	1	0	0	0	0	0	0	0	1	12062	1567	55	3		3	PLEKHA6	1	204242841	Silent	SNP	T	TCGA-B0-4828-01A-01D-1361-10	43108182	204242841	45007780	8	8978											
SMC6	79677	hgsc.bcm.edu;ucsc.edu	37	2	17877627	17877627	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:17877627T>G	ENST00000448223.2	-	22	2730	c.2461A>C	c.(2461-2463)Aaa>Caa	p.K821Q	SMC6_ENST00000381272.4_Missense_Mutation_p.K847Q|SMC6_ENST00000351948.4_Missense_Mutation_p.K821Q|SMC6_ENST00000402989.1_Missense_Mutation_p.K821Q	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	821					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTTTTGTTTTTCTTCATAA	0.308																																																0													158	149	152					2																	17877627		2202	4300	6502	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2461A>C	2.37:g.17877627T>G	ENSP00000404092:p.Lys821Gln		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145353	0.77888	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	5.27	5.27	0.74061	RecF/RecN/SMC (1);	0.093521	0.64402	D	0.000001	T	0.10809	0.0264	L	0.39245	1.2	0.40262	D	0.97818	P;P	0.49358	0.907;0.923	P;P	0.51415	0.607;0.669	T	0.35051	-0.9804	10	0.16420	T	0.52	.	15.1645	0.72811	0.0:0.0:0.0:1.0	.	847;821	Q96SB8-2;Q96SB8	.;SMC6_HUMAN	Q	821;821;847;821	ENSP00000404092:K821Q;ENSP00000323439:K821Q;ENSP00000370672:K847Q;ENSP00000384539:K821Q	ENSP00000323439:K821Q	K	-	1	0	SMC6	17741108	1.000000	0.71417	0.982000	0.44146	0.984000	0.73092	4.952000	0.63618	2.135000	0.66039	0.482000	0.46254	AAA		0.308	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		G	17877627	T	G	17877627	3	3	152	1	0	0	0	0	1	0	0	0	14793	1850	64	5	842	5	SMC6	2	17877627	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10		17877627	225321746	9	8979											
SDC1	6382	hgsc.bcm.edu;ucsc.edu	37	2	20402566	20402566	+	Silent	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:20402566G>C	ENST00000254351.4	-	5	1138	c.894C>G	c.(892-894)gcC>gcG	p.A298A	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000381150.1_Silent_p.A298A	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	298					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCTTCTGGTAGGCCCCGCCGT	0.597																																																0													108	109	109					2																	20402566		2203	4300	6503	SO:0001819	synonymous_variant	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.894C>G	2.37:g.20402566G>C			D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	CCDS1697.1																																																																																				0.597	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		C	20402566	G	C	20402566	2	2	152	1	0	0	0	0	0	0	0	1	13957	987	35	4		4	SDC1	2	20402566	Silent	SNP	G	TCGA-B0-4828-01A-01D-1361-10	2524939	20402566	222796807	10	8980											
HS1BP3	64342	hgsc.bcm.edu;ucsc.edu	37	2	20824634	20824634	+	Silent	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:20824634T>C	ENST00000304031.3	-	5	667	c.642A>G	c.(640-642)aaA>aaG	p.K214K		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	214	Pro-rich.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGGGATGTTTCTTGGGCT	0.597																																																0													85	88	87					2																	20824634		2203	4300	6503	SO:0001819	synonymous_variant	64342				CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.642A>G	2.37:g.20824634T>C			B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	37	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	T	9.091	1.001792	0.19121	.	.	ENSG00000118960	ENST00000445102	.	.	.	4.7	-0.426	0.12314	.	.	.	.	.	T	0.31513	0.0799	.	.	.	0.26541	N	0.974073	.	.	.	.	.	.	T	0.31166	-0.9953	4	.	.	.	-7.3151	7.5798	0.27959	0.0:0.4435:0.0:0.5565	.	.	.	.	A	7	.	.	T	-	1	0	HS1BP3	20688115	0.021000	0.18746	0.288000	0.24862	0.358000	0.29455	-0.189000	0.09629	0.021000	0.15133	0.533000	0.62120	ACA		0.597	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		C	20824634	T	C	20824634	2	2	152	1	0	0	0	0	0	0	0	1	7363	1722	60	3		3	HS1BP3	2	20824634	Silent	SNP	T	TCGA-B0-4828-01A-01D-1361-10	422068	20824634	222374739	11	8981											
LOXL3	84695	hgsc.bcm.edu;ucsc.edu	37	2	74763244	74763244	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:74763244C>T	ENST00000264094.3	-	7	1198	c.1127G>A	c.(1126-1128)tGc>tAc	p.C376Y	LOXL3_ENST00000409986.1_Missense_Mutation_p.C231Y|LOXL3_ENST00000409549.1_Missense_Mutation_p.C376Y|LOXL3_ENST00000393937.2_Missense_Mutation_p.C231Y|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	376	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTGTCCAGAGCAGCGAACTTC	0.537																																																0													84	85	85					2																	74763244		2203	4300	6503	SO:0001583	missense	84695			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1127G>A	2.37:g.74763244C>T	ENSP00000264094:p.Cys376Tyr		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947618	0.73787	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.09	5.09	0.68999	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.92084	0.7491	H	0.99922	4.955	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	D	0.95324	0.8423	10	0.87932	D	0	.	16.3805	0.83460	0.0:1.0:0.0:0.0	.	231;376;231;376	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	Y	376;231;376;231	ENSP00000264094:C376Y;ENSP00000377512:C231Y;ENSP00000386696:C376Y;ENSP00000386545:C231Y	ENSP00000264094:C376Y	C	-	2	0	LOXL3	74616752	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.452000	0.80683	2.806000	0.96561	0.551000	0.68910	TGC		0.537	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		T	74763244	C	T	74763244	3	4	152	1	0	0	0	0	1	0	0	0	8903	710	25	2	1166	2	LOXL3	2	74763244	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	53938610	74763244	168436129	12	8982											
LY75	4065	hgsc.bcm.edu	37	2	160697359	160697359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:160697359C>A	ENST00000263636.4	-	25	3415	c.3388G>T	c.(3388-3390)Gag>Tag	p.E1130*	LY75_ENST00000553424.1_Nonsense_Mutation_p.E1130*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.E1130*|LY75_ENST00000554112.1_Nonsense_Mutation_p.E1130*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.E1130*	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1130	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCAGACACTCCCTTTTAGCA	0.448																																																0													231	221	224					2																	160697359		2203	4300	6503	SO:0001587	stop_gained	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3388G>T	2.37:g.160697359C>A	ENSP00000263636:p.Glu1130*		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Nonsense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588106	0.97684	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-9.6886	16.3193	0.82939	0.0:1.0:0.0:0.0	.	.	.	.	X	1130	.	ENSP00000423463:E1130X	E	-	1	0	LY75;LY75-CD302	160405605	0.953000	0.32496	0.377000	0.26055	0.029000	0.11900	2.133000	0.42093	2.577000	0.86979	0.655000	0.94253	GAG		0.448	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			A	160697359	C	A	160697359	4	1	152	1	0	0	0	0	0	1	0	0	9101	864	30	4	1824	4	LY75	2	160697359	Nonsense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	85934115	160697359	82502014	13	8983											
GLS	2744	hgsc.bcm.edu	37	2	191792046	191792046	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:191792046A>C	ENST00000320717.3	+	12	1521	c.1263A>C	c.(1261-1263)gaA>gaC	p.E421D	GLS_ENST00000409626.1_5'UTR|GLS_ENST00000409428.1_5'Flank|GLS_ENST00000338435.4_Missense_Mutation_p.E421D|GLS_ENST00000409215.1_5'Flank	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	421					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GCTCCATTGAAGTGACTTGTG	0.383																																																0													114	107	109					2																	191792046		2203	4300	6503	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1263A>C	2.37:g.191792046A>C	ENSP00000317379:p.Glu421Asp		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932328	0.73442	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.48522	0.81;0.81	5.62	0.721	0.18219	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.82923	2.615	0.80722	D	1	P;P;P;P	0.40534	0.72;0.557;0.72;0.673	P;B;P;B	0.47162	0.54;0.404;0.54;0.405	T	0.57230	-0.7847	10	0.59425	D	0.04	-27.0246	9.0797	0.36545	0.7215:0.0:0.2785:0.0	.	421;75;421;421	A8K132;Q68D38;O94925;O94925-3	.;.;GLSK_HUMAN;.	D	421	ENSP00000317379:E421D;ENSP00000340689:E421D	ENSP00000317379:E421D	E	+	3	2	GLS	191500291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.374000	0.34283	0.160000	0.19432	0.528000	0.53228	GAA		0.383	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			C	191792046	A	C	191792046	3	2	152	1	0	0	0	0	1	0	0	0	6465	69	3	5	1309	5	GLS	2	191792046	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	31094687	191792046	51407327	14	8984											
MDH1B	130752	hgsc.bcm.edu	37	2	207619861	207619861	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:207619861A>C	ENST00000374412.3	-	5	1057	c.782T>G	c.(781-783)gTa>gGa	p.V261G	MDH1B_ENST00000454776.2_Missense_Mutation_p.V261G|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.V163G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	261					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTTCAGGTTTACAAAGGTTCT	0.507																																					Pancreas(76;29 1355 28675 37177 51207)											0													130	116	120					2																	207619861		2203	4300	6503	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.782T>G	2.37:g.207619861A>C	ENSP00000363533:p.Val261Gly		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.459830	0.26248	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.12465	2.68;2.68;2.68	5.69	5.69	0.88448	NAD(P)-binding domain (1);	0.252122	0.39341	N	0.001382	T	0.20414	0.0491	M	0.64997	1.995	0.80722	D	1	P;P	0.40970	0.734;0.615	P;B	0.44597	0.454;0.266	T	0.00849	-1.1541	10	0.87932	D	0	-22.9862	10.3651	0.44019	0.8843:0.0:0.1157:0.0	.	261;261	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	G	261;163;261	ENSP00000363533:V261G;ENSP00000416577:V163G;ENSP00000389916:V261G	ENSP00000363533:V261G	V	-	2	0	MDH1B	207328106	1.000000	0.71417	0.870000	0.34147	0.009000	0.06853	4.566000	0.60843	2.291000	0.77112	0.533000	0.62120	GTA		0.507	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		C	207619861	A	C	207619861	3	2	152	1	0	0	0	0	1	0	0	0	9411	391	14	5	806	5	MDH1B	2	207619861	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	15827815	207619861	35579512	15	8985											
SLC16A14	151473	hgsc.bcm.edu	37	2	230911157	230911157	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:230911157G>C	ENST00000295190.4	-	4	1143	c.685C>G	c.(685-687)Ctg>Gtg	p.L229V		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGCGCTGGCAGGCCACGCACA	0.567																																																0													71	77	75					2																	230911157		2203	4300	6503	SO:0001583	missense	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.685C>G	2.37:g.230911157G>C	ENSP00000295190:p.Leu229Val		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.605423	0.00123	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.08634	3.07;3.08;3.09	4.84	1.98	0.26296	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.634660	0.00935	N	0.002761	T	0.08492	0.0211	L	0.38175	1.15	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.18871	0.008;0.023	T	0.34625	-0.9821	10	0.24483	T	0.36	.	4.594	0.12320	0.0731:0.1341:0.5155:0.2773	.	229;229	E7EMG7;Q7RTX9	.;MOT14_HUMAN	V	229	ENSP00000295190:L229V;ENSP00000400352:L229V;ENSP00000395775:L229V	ENSP00000295190:L229V	L	-	1	2	SLC16A14	230619401	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.187000	0.16998	0.218000	0.20820	-0.126000	0.14955	CTG		0.567	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		C	230911157	G	C	230911157	3	2	152	1	0	0	0	0	1	0	0	0	14413	991	35	4	855	4	SLC16A14	2	230911157	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	23291296	230911157	12288216	16	8986											
VHL	7428	ucsc.edu	37	3	10188197	10188197	+	Splice_Site	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	G	C	G	G	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:10188197G>C	ENST00000256474.2	+	2	1180		c.e2-1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(10)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGTCCCGATAGGTCACCTTTG	0.537		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Unknown(10)	kidney(10)	GRCh37	CS014769|CS984220	VHL	S							164	152	156					3																	10188197		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.341-1G>C	3.37:g.10188197G>C			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703243	0.30232	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3181	0.82935	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163197	1.000000	0.71417	0.999000	0.59377	0.124000	0.20399	7.278000	0.78587	2.530000	0.85305	0.563000	0.77884	.		0.537	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	C	10188197	G	C	10188197	5	2	152	1	0	0	0	0	0	0	1	0	17167	1014	35	4	346	4	VHL	3	10188197	Splice_Site	SNP	G	TCGA-B0-4828-01A-01D-1361-10		10188197	187834233	17	8987											
PBRM1	55193	hgsc.bcm.edu	37	3	52651528	52651528	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:52651528A>C	ENST00000296302.7	-	14	1569	c.1568T>G	c.(1567-1569)aTg>aGg	p.M523R	PBRM1_ENST00000337303.4_Missense_Mutation_p.M523R|PBRM1_ENST00000394830.3_Missense_Mutation_p.M523R|PBRM1_ENST00000409767.1_Missense_Mutation_p.M538R|PBRM1_ENST00000410007.1_Missense_Mutation_p.M523R|PBRM1_ENST00000356770.4_Missense_Mutation_p.M491R|PBRM1_ENST00000409114.3_Missense_Mutation_p.M538R|PBRM1_ENST00000409057.1_Missense_Mutation_p.M523R			Q86U86	PB1_HUMAN	polybromo 1	523			M -> I (found in a case of clear cell renal carcinoma; somatic mutation). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAAGATTTTCATTCGCTGCTT	0.373			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													72	72	72					3																	52651528		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1568T>G	3.37:g.52651528A>C	ENSP00000296302:p.Met523Arg		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	22.2	4.264590	0.80358	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.84	5.84	0.93424	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D;P;D;D	0.97110	0.998;0.985;0.984;0.998;0.984;1.0;0.837;0.997;0.997	T	0.05750	-1.0866	10	0.72032	D	0.01	-45.0812	16.2167	0.82231	1.0:0.0:0.0:0.0	.	523;523;523;523;538;538;523;491;523	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	R	491;523;523;523;523;523;538;538;523;482	ENSP00000349213:M491R;ENSP00000378307:M523R;ENSP00000296302:M523R;ENSP00000338302:M523R;ENSP00000386593:M523R;ENSP00000386529:M523R;ENSP00000386643:M538R;ENSP00000386601:M538R;ENSP00000387775:M523R;ENSP00000397662:M482R	ENSP00000296302:M523R	M	-	2	0	PBRM1	52626568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.231000	0.72958	0.533000	0.62120	ATG		0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52651528	A	C	52651528	3	2	152	1	0	0	0	0	1	0	0	0	11493	217	8	5	3400	5	PBRM1	3	52651528	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	42463331	52651528	145370902	18	8988											
KIAA2018	205717	hgsc.bcm.edu	37	3	113379781	113379782	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:113379781_113379782delCA	ENST00000478658.1	-	5	764_765	c.747_748delTG	c.(745-750)cttggtfs	p.G250fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.G250fs			Q68DE3	K2018_HUMAN	KIAA2018	250						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTAGTGGCACCAAGCACATTTG	0.446																																																0																																										SO:0001589	frameshift_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.747_748delTG	3.37:g.113379781_113379782delCA	ENSP00000420721:p.Gly250fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	CCDS43133.1																																																																																				0.446	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		-	113379782	CA	-	113379781	7	5	152	1	0	1	0	1	0	0	0	0	8270	594	21	0	5993	0	KIAA2018	3	113379781	Frame_Shift_Del	DEL	CA	TCGA-B0-4828-01A-01D-1361-10	60728253	113379781	84642649	19	8989											
PCCB	5096	hgsc.bcm.edu	37	3	136012687	136012687	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:136012687G>C	ENST00000251654.4	+	7	814	c.744G>C	c.(742-744)aaG>aaC	p.K248N	PCCB_ENST00000482086.1_Missense_Mutation_p.K132N|PCCB_ENST00000490504.1_Missense_Mutation_p.K191N|PCCB_ENST00000471595.1_Missense_Mutation_p.K248N|PCCB_ENST00000478469.1_Missense_Mutation_p.K248N|PCCB_ENST00000469217.1_Missense_Mutation_p.K268N|PCCB_ENST00000462637.1_Missense_Mutation_p.K225N|PCCB_ENST00000466072.1_Missense_Mutation_p.K248N|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000468777.1_Missense_Mutation_p.K279N|PCCB_ENST00000483687.1_Missense_Mutation_p.K229N	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	248	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GTGGTGCCAAGACCCACACCA	0.488																																																0													149	141	144					3																	136012687		2203	4300	6503	SO:0001583	missense	5096				CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"propionyl Coenzyme A carboxylase, beta polypeptide"			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.744G>C	3.37:g.136012687G>C	ENSP00000251654:p.Lys248Asn		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782663	0.31502	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217;ENST00000478469	D;D;D;D;D;D;D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46	5.02	4.14	0.48551	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.084638	0.85682	D	0.000000	D	0.94125	0.8116	L	0.56199	1.76	0.58432	D	0.999999	B;B;B;B	0.12013	0.005;0.002;0.003;0.001	B;B;B;B	0.20384	0.029;0.014;0.022;0.014	D	0.89638	0.3860	10	0.19590	T	0.45	.	8.4138	0.32659	0.2418:0.0:0.7582:0.0	.	165;268;248;248	B7Z7U9;B7Z2Z4;E9PDR0;P05166	.;.;.;PCCB_HUMAN	N	248;191;229;279;225;248;132;248;268;248	ENSP00000251654:K248N;ENSP00000418307:K191N;ENSP00000420639:K229N;ENSP00000419129:K279N;ENSP00000420391:K225N;ENSP00000420158:K248N;ENSP00000417253:K132N;ENSP00000417549:K248N;ENSP00000419027:K268N;ENSP00000420759:K248N	ENSP00000251654:K248N	K	+	3	2	PCCB	137495377	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.092000	0.41700	1.237000	0.43756	0.650000	0.86243	AAG		0.488	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			C	136012687	G	C	136012687	3	2	152	1	0	0	0	0	1	0	0	0	11507	933	33	4	834	4	PCCB	3	136012687	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	22632906	136012687	62009743	20	8990											
SI	6476	hgsc.bcm.edu	37	3	164776805	164776805	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:164776805G>T	ENST00000264382.3	-	12	1406	c.1344C>A	c.(1342-1344)aaC>aaA	p.N448K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	448	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CATGTTGTGTGTTTCCCCTCT	0.353										HNSCC(35;0.089)																																						0													112	100	104					3																	164776805		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1344C>A	3.37:g.164776805G>T	ENSP00000264382:p.Asn448Lys		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	0.121	-1.125343	0.01770	.	.	ENSG00000090402	ENST00000264382	D	0.92299	-3.01	5.57	1.42	0.22433	Glycoside hydrolase, superfamily (1);	0.811303	0.11769	N	0.531288	T	0.76695	0.4023	N	0.11427	0.14	0.09310	N	1	B	0.20261	0.043	B	0.16722	0.016	T	0.63739	-0.6569	10	0.05959	T	0.93	.	1.3569	0.02184	0.5256:0.1102:0.1678:0.1964	.	448	P14410	SUIS_HUMAN	K	448	ENSP00000264382:N448K	ENSP00000264382:N448K	N	-	3	2	SI	166259499	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.244000	0.18124	0.400000	0.25396	-0.300000	0.09419	AAC		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		T	164776805	G	T	164776805	3	4	152	1	0	0	0	0	1	0	0	0	14303	1368	48	4	4287	4	SI	3	164776805	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	28764118	164776805	33245625	21	8991											
LRRC15	131578	hgsc.bcm.edu	37	3	194081358	194081358	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:194081358G>T	ENST00000347624.3	-	2	500	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	LRRC15_ENST00000428839.1_Missense_Mutation_p.Q145K|LRRC15_ENST00000439944.2_Missense_Mutation_p.Q145K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	139					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGCTGGATCTGCAACAGCTGG	0.597																																																0													64	66	65					3																	194081358		2203	4300	6503	SO:0001583	missense	131578			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.415C>A	3.37:g.194081358G>T	ENSP00000306276:p.Gln139Lys		Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	5.085	0.201352	0.09652	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.23147	1.92;3.69;3.69	4.8	4.8	0.61643	.	0.319686	0.27270	N	0.020139	T	0.14399	0.0348	N	0.10629	0.01	0.35576	D	0.805885	P;P	0.42941	0.514;0.794	B;B	0.39805	0.216;0.31	T	0.10291	-1.0636	10	0.09084	T	0.74	.	18.7514	0.91818	0.0:0.0:1.0:0.0	.	139;145	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	K	139;145;145	ENSP00000306276:Q139K;ENSP00000389128:Q145K;ENSP00000413707:Q145K	ENSP00000306276:Q139K	Q	-	1	0	LRRC15	195562653	0.880000	0.30214	1.000000	0.80357	0.863000	0.49368	3.708000	0.54845	2.602000	0.87976	0.462000	0.41574	CAG		0.597	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			T	194081358	G	T	194081358	3	4	152	1	0	0	0	0	1	0	0	0	8972	1328	46	4	1334	4	LRRC15	3	194081358	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	29304553	194081358	3941072	22	8992											
TET2	54790	hgsc.bcm.edu;ucsc.edu	37	4	106156048	106156048	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr4:106156048C>A	ENST00000540549.1	+	3	1809	c.949C>A	c.(949-951)Cag>Aag	p.Q317K	TET2_ENST00000305737.2_Missense_Mutation_p.Q317K|TET2_ENST00000413648.2_Missense_Mutation_p.Q317K|TET2_ENST00000380013.4_Missense_Mutation_p.Q317K|TET2_ENST00000513237.1_Missense_Mutation_p.Q338K|TET2_ENST00000394764.1_Missense_Mutation_p.Q317K|TET2_ENST00000545826.1_Missense_Mutation_p.Q317K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	317					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.Q317*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTGTTCCTTTCAGAAACCAGA	0.453			"Mis N, F"		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											85	82	83					4																	106156048		2203	4300	6503	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.949C>A	4.37:g.106156048C>A	ENSP00000442788:p.Gln317Lys		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099435	0.37048	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.08546	3.08;4.05;3.08;4.04;4.05;3.08;3.13	4.98	4.98	0.66077	.	2.910710	0.02505	U	0.090939	T	0.12732	0.0309	L	0.29908	0.895	0.25368	N	0.988726	P;P;P	0.44139	0.455;0.455;0.827	B;B;B	0.44133	0.135;0.135;0.442	T	0.38200	-0.9672	10	0.87932	D	0	.	12.3828	0.55315	0.168:0.832:0.0:0.0	.	338;317;317	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	K	317;317;317;338;317;317;317;317	ENSP00000306705:Q317K;ENSP00000442788:Q317K;ENSP00000442867:Q317K;ENSP00000425443:Q338K;ENSP00000369351:Q317K;ENSP00000378245:Q317K;ENSP00000391448:Q317K	ENSP00000265149:Q317K	Q	+	1	0	TET2	106375497	1.000000	0.71417	0.963000	0.40424	0.240000	0.25518	2.309000	0.43699	2.325000	0.78763	0.655000	0.94253	CAG		0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		A	106156048	C	A	106156048	3	1	152	1	0	0	0	0	1	0	0	0	15775	827	29	4	951	4	TET2	4	106156048	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10		106156048	84998228	23	8993											
GSTCD	79807	hgsc.bcm.edu	37	4	106638847	106638847	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr4:106638847T>G	ENST00000515279.1	+	2	297	c.77T>G	c.(76-78)aTc>aGc	p.I26S	GSTCD_ENST00000394728.3_Missense_Mutation_p.I26S|GSTCD_ENST00000394730.3_Missense_Mutation_p.I26S|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Missense_Mutation_p.I26S|GSTCD_ENST00000360505.5_Missense_Mutation_p.I26S			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	26						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GAAGGATGCATCTTTCCTCTT	0.348																																																0													96	93	94					4																	106638847		2203	4300	6503	SO:0001583	missense	79807			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.77T>G	4.37:g.106638847T>G	ENSP00000422354:p.Ile26Ser		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450313	0.26074	.	.	ENSG00000138780	ENST00000512828;ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.71	5.71	0.89125	.	0.411800	0.29699	N	0.011432	T	0.60157	0.2247	L	0.55481	1.735	0.39701	D	0.971188	B;B	0.27316	0.126;0.175	B;B	0.27887	0.032;0.084	T	0.60777	-0.7196	9	0.48119	T	0.1	-10.322	15.9924	0.80217	0.0:0.0:0.0:1.0	.	26;26	Q8NEC7;D6RCC9	GSTCD_HUMAN;.	S	26	.	ENSP00000353695:I26S	I	+	2	0	GSTCD	106858296	1.000000	0.71417	0.980000	0.43619	0.749000	0.42624	4.329000	0.59260	2.187000	0.69744	0.533000	0.62120	ATC		0.348	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		G	106638847	T	G	106638847	3	3	152	1	0	0	0	0	1	0	0	0	6837	1435	50	5	79	5	GSTCD	4	106638847	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10	482799	106638847	84515429	24	8994											
ODZ3	55714	hgsc.bcm.edu	37	4	183601821	183601821	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr4:183601821G>T	ENST00000511685.1	+	10	1888	c.1765G>T	c.(1765-1767)Ggt>Tgt	p.G589C	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G589C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	589	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACAGTGTGGGGGTCGTGGGAT	0.512																																																0													103	102	102					4																	183601821		1895	4119	6014	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1765G>T	4.37:g.183601821G>T	ENSP00000424226:p.Gly589Cys		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608372	0.87258	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.34072	1.38;1.38	5.5	5.5	0.81552	Epidermal growth factor-like (1);	.	.	.	.	T	0.72503	0.3468	H	0.96269	3.795	0.80722	D	1	D	0.61697	0.99	D	0.65323	0.934	T	0.81355	-0.0970	9	0.87932	D	0	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	589	Q9P273	TEN3_HUMAN	C	589	ENSP00000424226:G589C;ENSP00000385276:G589C	ENSP00000385276:G589C	G	+	1	0	ODZ3	183838815	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.861000	0.98227	0.655000	0.94253	GGT		0.512	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183601821	G	T	183601821	3	4	152	1	0	0	0	0	1	0	0	0	10838	1232	43	4	1799	4	ODZ3	4	183601821	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	76962974	183601821	7552455	25	8995											
DNAH5	1767	hgsc.bcm.edu;ucsc.edu	37	5	13922428	13922428	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:13922428A>C	ENST00000265104.4	-	5	552	c.448T>G	c.(448-450)Ttt>Gtt	p.F150V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	150	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACATGTTAAAACTCACCTCC	0.443									Kartagener syndrome																																							0													36	35	35					5																	13922428		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.448T>G	5.37:g.13922428A>C	ENSP00000265104:p.Phe150Val		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.128386	0.37533	.	.	ENSG00000039139	ENST00000265104	T	0.23950	1.88	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.78049	2.395	0.80722	D	1	B	0.20261	0.043	B	0.21546	0.035	T	0.09796	-1.0658	10	0.32370	T	0.25	.	15.6918	0.77461	1.0:0.0:0.0:0.0	.	150	Q8TE73	DYH5_HUMAN	V	150	ENSP00000265104:F150V	ENSP00000265104:F150V	F	-	1	0	DNAH5	13975428	1.000000	0.71417	0.996000	0.52242	0.200000	0.23975	7.070000	0.76763	2.109000	0.64355	0.459000	0.35465	TTT		0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13922428	A	C	13922428	3	2	152	1	0	0	0	0	1	0	0	0	4606	14	1	5	13726	5	DNAH5	5	13922428	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10		13922428	166992832	26	8996											
FAM105A	54491	hgsc.bcm.edu	37	5	14602319	14602319	+	Missense_Mutation	SNP	C	C	A	rs144733724		TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:14602319C>A	ENST00000274217.3	+	5	496	c.376C>A	c.(376-378)Cac>Aac	p.H126N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	126										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TTGGCGGCATCACATTAAATG	0.343																																																0								C	ASN/HIS	1,4405	2.1+/-5.4	0,1,2202	102	98	99		376	4.7	0.1	5	dbSNP_134	99	0,8600		0,0,4300	yes	missense	FAM105A	NM_019018.2	68	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	126/357	14602319	1,13005	2203	4300	6503	SO:0001583	missense	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.376C>A	5.37:g.14602319C>A	ENSP00000274217:p.His126Asn		Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.380014	0.24944	2.27E-4	0.0	ENSG00000145569	ENST00000274217	T	0.17691	2.26	4.7	4.7	0.59300	.	0.236225	0.36628	N	0.002490	T	0.17916	0.0430	L	0.51422	1.61	0.24338	N	0.994979	P	0.35272	0.493	B	0.36845	0.234	T	0.13045	-1.0524	10	0.20519	T	0.43	-13.5922	14.5074	0.67762	0.0:0.8527:0.1473:0.0	.	126	Q9NUU6	F105A_HUMAN	N	126	ENSP00000274217:H126N	ENSP00000274217:H126N	H	+	1	0	FAM105A	14655319	0.222000	0.23652	0.146000	0.22360	0.994000	0.84299	3.961000	0.56759	2.311000	0.77944	0.555000	0.69702	CAC		0.343	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		A	14602319	C	A	14602319	3	1	152	1	0	0	0	0	1	0	0	0	5389	826	29	4	394	4	FAM105A	5	14602319	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	679891	14602319	166312941	27	8997											
CDH18	1016	hgsc.bcm.edu;ucsc.edu	37	5	19747281	19747281	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:19747281C>T	ENST00000507958.1	-	6	1283	c.293G>A	c.(292-294)gGg>gAg	p.G98E	CDH18_ENST00000274170.4_Missense_Mutation_p.G98E|CDH18_ENST00000502796.1_Missense_Mutation_p.G98E|CDH18_ENST00000382275.1_Missense_Mutation_p.G98E|CDH18_ENST00000511273.1_Missense_Mutation_p.G98E|CDH18_ENST00000506372.1_Missense_Mutation_p.G98E			Q13634	CAD18_HUMAN	cadherin 18, type 2	98	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G98V(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAATATAGTCCCAGCACCCTC	0.413																																																2	Substitution - Missense(2)	lung(2)											162	146	152					5																	19747281		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.293G>A	5.37:g.19747281C>T	ENSP00000425093:p.Gly98Glu		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935784	0.92458	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.984	T	0.68435	-0.5409	9	.	.	.	.	17.6173	0.88071	0.0:1.0:0.0:0.0	.	98;98	B4DHG6;Q13634	.;CAD18_HUMAN	E	98;98;98;98;98;98;44;98	ENSP00000371710:G98E;ENSP00000425093:G98E;ENSP00000274170:G98E;ENSP00000424931:G98E;ENSP00000422138:G98E;ENSP00000427383:G44E;ENSP00000425854:G98E	.	G	-	2	0	CDH18	19783038	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.412000	0.80091	2.501000	0.84356	0.591000	0.81541	GGG		0.413	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19747281	C	T	19747281	3	4	152	1	0	0	0	0	1	0	0	0	3105	623	22	2	2119	2	CDH18	5	19747281	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	5144962	19747281	161167979	28	8998											
AP3B1	8546	hgsc.bcm.edu	37	5	77316582	77316582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:77316582G>A	ENST00000255194.6	-	25	3101	c.2926C>T	c.(2926-2928)Cag>Tag	p.Q976*	AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Nonsense_Mutation_p.Q927*	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	976					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACAGGTGGCTGAATATTAACA	0.333									Hermansky-Pudlak syndrome																																							0													104	98	100					5																	77316582		2203	4300	6503	SO:0001587	stop_gained	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2926C>T	5.37:g.77316582G>A	ENSP00000255194:p.Gln976*		E5RJ68|O00580|Q7Z393|Q9HD66	Nonsense_Mutation	SNP	ENST00000255194.6	37	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	41	8.740994	0.98935	.	.	ENSG00000132842	ENST00000255194;ENST00000519295	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8836	20.2084	0.98285	0.0:0.0:1.0:0.0	.	.	.	.	X	976;927	.	ENSP00000255194:Q976X	Q	-	1	0	AP3B1	77352338	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.796000	0.85898	2.774000	0.95407	0.650000	0.86243	CAG		0.333	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			A	77316582	G	A	77316582	4	1	152	1	0	0	0	0	0	1	0	0	744	1299	45	2	370	2	AP3B1	5	77316582	Nonsense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	57569301	77316582	103598678	29	8999											
GNPDA1	10007	hgsc.bcm.edu	37	5	141391485	141391485	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:141391485A>T	ENST00000508177.1	-	1	874	c.116T>A	c.(115-117)cTc>cAc	p.L39H	GNPDA1_ENST00000458112.2_Missense_Mutation_p.L39H|GNPDA1_ENST00000542860.1_Missense_Mutation_p.L39H|GNPDA1_ENST00000503794.1_Missense_Mutation_p.L39H|GNPDA1_ENST00000500692.2_Missense_Mutation_p.L39H|GNPDA1_ENST00000311337.6_Missense_Mutation_p.L39H|GNPDA1_ENST00000513454.1_Missense_Mutation_p.L39H			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	39					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGTGGGGAGCCCCAGGGT	0.582																																																0													84	81	82					5																	141391485		2203	4300	6503	SO:0001583	missense	10007			AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"glucosamine-6-phosphate deaminase", "oscillin"	601798	"glucosamine-6-phosphate isomerase"	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.116T>A	5.37:g.141391485A>T	ENSP00000423674:p.Leu39His		B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.959348	0.92726	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000504139;ENST00000505689;ENST00000510194;ENST00000503229	T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;0.45;-0.12;-0.12;-0.12;-0.12	5.18	5.18	0.71444	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.87954	0.6308	H	0.99074	4.42	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93016	0.6436	10	0.87932	D	0	-22.3852	15.3299	0.74200	1.0:0.0:0.0:0.0	.	39;39	E7EVU7;P46926	.;GNPI1_HUMAN	H	39	ENSP00000423494:L39H;ENSP00000311876:L39H;ENSP00000387718:L39H;ENSP00000424275:L39H;ENSP00000423674:L39H;ENSP00000423485:L39H;ENSP00000445143:L39H;ENSP00000424625:L39H;ENSP00000421524:L39H;ENSP00000424537:L39H;ENSP00000422173:L39H	ENSP00000311876:L39H	L	-	2	0	GNPDA1	141371669	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.917000	0.92751	2.087000	0.62958	0.533000	0.62120	CTC		0.582	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		T	141391485	A	T	141391485	3	4	152	1	0	0	0	0	1	0	0	0	6544	304	11	5	777	5	GNPDA1	5	141391485	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	64074903	141391485	39523775	30	9000											
BTNL8	79908	hgsc.bcm.edu	37	5	180377470	180377470	+	Missense_Mutation	SNP	G	G	A	rs113820381	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:180377470G>A	ENST00000340184.4	+	8	1635	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.A270T|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.A293T|BTNL8_ENST00000511704.1_Missense_Mutation_p.A361T|BTNL8_ENST00000400707.3_Missense_Mutation_p.A352T	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	477			A -> T (in dbSNP:rs113820381). {ECO:0000269|PubMed:15489334}.		immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGGCCTCTGCAATCCCAGA	0.507													a|||	1213	0.242212	0.556	0.1153	5008	,	,		16171	0.1171		0.1143	False		,,,				2504	0.1687															0								A	THR/ALA,THR/ALA,,THR/ALA,THR/ALA,	1953,1869		598,757,556	83	71	75		1429,1081,,1054,877,	-2	0	5	dbSNP_132	75	1063,6535		289,485,3025	yes	missense,missense,utr-3,missense,missense,utr-3	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_001159710.1,NM_024850.2	58,58,,58,58,	887,1242,3581	AA,AG,GG		13.9905,48.9011,26.4098	benign,benign,,benign,benign,	477/501,361/385,,352/376,293/317,	180377470	3016,8404	1911	3799	5710	SO:0001583	missense	79908			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1429G>A	5.37:g.180377470G>A	ENSP00000342197:p.Ala477Thr		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	CCDS43413.1	498	0.22802197802197802	291	0.5914634146341463	50	0.13812154696132597	64	0.11188811188811189	93	0.12269129287598944	A	0.009	-1.822179	0.00589	0.510989	0.139905	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.60171	1.35;0.66;0.64;0.21;0.25	0.981	-1.96	0.07525	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43507	-0.9387	8	0.13853	T	0.58	.	6.7613	0.23542	0.5773:0.0:0.4227:0.0	.	352;361;477	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	T	477;352;361;270;293	ENSP00000342197:A477T;ENSP00000383543:A352T;ENSP00000425207:A361T;ENSP00000427441:A270T;ENSP00000435098:A293T	ENSP00000342197:A477T	A	+	1	0	BTNL8	180310076	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.136000	0.15974	-2.423000	0.00562	-2.245000	0.00285	GCA		0.507	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		A	180377470	G	A	180377470	3	1	152	1	0	0	0	0	1	0	0	0	1569	1319	46	2	1615	2	BTNL8	5	180377470	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	38985985	180377470	537790	31	9001											
TDRD6	221400	hgsc.bcm.edu	37	6	46656689	46656689	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:46656689A>C	ENST00000316081.6	+	1	824	c.824A>C	c.(823-825)gAg>gCg	p.E275A	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.E275A|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	275					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTCTCGCAGGAGATCCACCGC	0.637																																																0													31	29	30					6																	46656689		2202	4300	6502	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.824A>C	6.37:g.46656689A>C	ENSP00000346065:p.Glu275Ala		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.544486	0.65198	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.08984	3.03;3.03	6.07	6.07	0.98685	Maternal tudor protein (1);	0.047416	0.85682	D	0.000000	T	0.13114	0.0318	L	0.38175	1.15	0.41794	D	0.989888	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.05053	-1.0909	10	0.41790	T	0.15	-6.4796	16.3023	0.82830	1.0:0.0:0.0:0.0	.	275;275	F5H5M3;O60522	.;TDRD6_HUMAN	A	275	ENSP00000443299:E275A;ENSP00000346065:E275A	ENSP00000346065:E275A	E	+	2	0	TDRD6	46764648	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.417000	0.90247	2.326000	0.78906	0.533000	0.62120	GAG		0.637	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		C	46656689	A	C	46656689	3	2	152	1	0	0	0	0	1	0	0	0	15739	304	11	5	826	5	TDRD6	6	46656689	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10		46656689	124458378	32	9002											
HIVEP2	3097	hgsc.bcm.edu;ucsc.edu	37	6	143091371	143091371	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:143091371G>A	ENST00000367604.1	-	4	5144	c.4505C>T	c.(4504-4506)tCt>tTt	p.S1502F	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1502F|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1502F			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTTGGCTCAGAAGCACATCC	0.542																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											0													99	109	105					6																	143091371		2056	4186	6242	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4505C>T	6.37:g.143091371G>A	ENSP00000356576:p.Ser1502Phe		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760906	0.69763	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02498	4.27;4.27;4.27	6.17	6.17	0.99709	.	0.326994	0.36444	N	0.002597	T	0.04907	0.0132	L	0.50333	1.59	0.48830	D	0.999718	D	0.54397	0.966	P	0.50440	0.641	T	0.38200	-0.9672	10	0.62326	D	0.03	-20.2207	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1502	P31629	ZEP2_HUMAN	F	1502	ENSP00000356576:S1502F;ENSP00000356575:S1502F;ENSP00000012134:S1502F	ENSP00000012134:S1502F	S	-	2	0	HIVEP2	143133064	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	8.683000	0.91236	2.941000	0.99782	0.655000	0.94253	TCT		0.542	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			A	143091371	G	A	143091371	3	1	152	1	0	0	0	0	1	0	0	0	7189	942	33	2	2859	2	HIVEP2	6	143091371	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	96434682	143091371	28023696	33	9003											
SYNJ2	8871	hgsc.bcm.edu	37	6	158499241	158499241	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:158499241A>C	ENST00000355585.4	+	18	2570	c.2495A>C	c.(2494-2496)aAa>aCa	p.K832T	SYNJ2_ENST00000367121.3_Missense_Mutation_p.K832T|SYNJ2_ENST00000367112.1_5'UTR|SYNJ2_ENST00000367122.2_Missense_Mutation_p.K832T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	832					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTTGACACCAAAGTCAGACAC	0.502																																																0													181	158	166					6																	158499241		2203	4300	6503	SO:0001583	missense	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2495A>C	6.37:g.158499241A>C	ENSP00000347792:p.Lys832Thr		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	A	6.420	0.445538	0.12164	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.94687	-3.21;-3.49;-3.25	5.45	-1.59	0.08453	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.937138	0.08969	N	0.867556	D	0.85296	0.5664	M	0.65975	2.015	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.18871	0.023;0.008	T	0.74551	-0.3628	10	0.42905	T	0.14	.	5.6969	0.17861	0.5395:0.2555:0.205:0.0	.	832;832	O15056;O15056-3	SYNJ2_HUMAN;.	T	832	ENSP00000356089:K832T;ENSP00000356088:K832T;ENSP00000347792:K832T	ENSP00000347792:K832T	K	+	2	0	SYNJ2	158419229	0.000000	0.05858	0.003000	0.11579	0.102000	0.19082	0.292000	0.19011	-0.526000	0.06383	-0.250000	0.11733	AAA		0.502	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			C	158499241	A	C	158499241	3	2	152	1	0	0	0	0	1	0	0	0	15458	14	1	5	2565	5	SYNJ2	6	158499241	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	15407870	158499241	12615826	34	9004											
SYTL3	94120	hgsc.bcm.edu	37	6	159166676	159166676	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:159166676G>T	ENST00000297239.9	+	11	1214	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	SYTL3_ENST00000367081.3_Missense_Mutation_p.K66N|SYTL3_ENST00000360448.3_Missense_Mutation_p.K272N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	340	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AAGAAAAGAAGAAAAAGTGCA	0.313																																																0													61	59	60					6																	159166676		2203	4300	6503	SO:0001583	missense	94120			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1020G>T	6.37:g.159166676G>T	ENSP00000297239:p.Lys340Asn		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405492	0.62288	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.68479	-0.33;-0.33;-0.33	5.51	2.74	0.32292	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.247406	0.38217	N	0.001770	T	0.59473	0.2196	L	0.47016	1.485	0.49051	D	0.999745	D;P;P	0.62365	0.991;0.666;0.803	P;B;P	0.60286	0.872;0.274;0.452	T	0.58797	-0.7573	10	0.37606	T	0.19	.	9.5735	0.39442	0.227:0.0:0.773:0.0	.	66;340;272	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	N	272;340;340;66	ENSP00000353631:K272N;ENSP00000297239:K340N;ENSP00000356048:K66N	ENSP00000297239:K340N	K	+	3	2	SYTL3	159086664	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	3.136000	0.50554	0.688000	0.31529	0.655000	0.94253	AAG		0.313	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			T	159166676	G	T	159166676	3	4	152	1	0	0	0	0	1	0	0	0	15489	933	33	4	842	4	SYTL3	6	159166676	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	667435	159166676	11948391	35	9005											
TCP10	6953	hgsc.bcm.edu	37	6	167791530	167791530	+	Missense_Mutation	SNP	G	G	C	rs17855837	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:167791530G>C	ENST00000397829.4	-	4	497	c.330C>G	c.(328-330)gaC>gaG	p.D110E	TCP10_ENST00000366827.2_Missense_Mutation_p.D110E	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	137						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TGGGCGTTGTGTCTTCATCAG	0.448													c|||	2911	0.58127	0.8343	0.4049	5008	,	,		12661	0.4821		0.4612	False		,,,				2504	0.59															0													35	73	60					6																	167791530		2165	4271	6436	SO:0001583	missense	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.330C>G	6.37:g.167791530G>C	ENSP00000380929:p.Asp110Glu		Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	CCDS43527.1	929	0.42536630036630035	277	0.5630081300813008	121	0.3342541436464088	232	0.40559440559440557	299	0.3944591029023747	C	0.005	-2.201231	0.00296	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000460930	T;T;T	0.29917	1.92;1.96;1.55	1.4	-1.83	0.07833	.	.	.	.	.	T	0.01124	0.0037	N	0.00308	-1.67	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26883	-1.0090	8	0.02654	T	1	.	3.3528	0.07158	0.0:0.2983:0.219:0.4827	rs17855837	110;137;137	D1MPS5;Q12799;Q12799-2	.;TCP10_HUMAN;.	E	110;110;106	ENSP00000355792:D110E;ENSP00000380929:D110E;ENSP00000426065:D106E	ENSP00000355792:D110E	D	-	3	2	TCP10	167711520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.989000	0.00658	-1.300000	0.02341	-0.647000	0.03941	GAC		0.448	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		C	167791530	G	C	167791530	3	2	152	1	0	0	0	0	1	0	0	0	15715	1368	48	4	670	4	TCP10	6	167791530	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	8624854	167791530	3323537	36	9006											
MLLT4	4301	hgsc.bcm.edu	37	6	168273013	168273013	+	Silent	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:168273013A>T	ENST00000447894.2	+	4	534	c.534A>T	c.(532-534)cgA>cgT	p.R178R	MLLT4_ENST00000366806.2_Silent_p.R178R|MLLT4_ENST00000392112.1_Silent_p.R177R|MLLT4_ENST00000351017.4_Silent_p.R178R|MLLT4_ENST00000400822.3_Silent_p.R177R|MLLT4_ENST00000344191.4_Silent_p.R178R|MLLT4_ENST00000392108.3_Silent_p.R178R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	178					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		agGCATTGCGACAGGCATCTG	0.393			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													102	107	105					6																	168273013		2203	4299	6502	SO:0001819	synonymous_variant	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.534A>T	6.37:g.168273013A>T			O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37																																																																																					0.393	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		T	168273013	A	T	168273013	2	4	152	1	0	0	0	0	0	0	0	1	9631	262	10	5		5	MLLT4	6	168273013	Silent	SNP	A	TCGA-B0-4828-01A-01D-1361-10	481483	168273013	2842054	37	9007											
ADCYAP1R1	117	hgsc.bcm.edu;ucsc.edu	37	7	31121334	31121334	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr7:31121334C>G	ENST00000304166.4	+	6	582	c.293C>G	c.(292-294)tCt>tGt	p.S98C	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.S98C|ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.S98C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	98					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCAGGAGAGTCTGATTTTGGT	0.502																																					Ovarian(44;225 1186 2158 11092)											0													161	142	149					7																	31121334		2203	4300	6503	SO:0001583	missense	117				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.293C>G	7.37:g.31121334C>G	ENSP00000306620:p.Ser98Cys		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020424	0.19433	.	.	ENSG00000078549	ENST00000304166;ENST00000396211;ENST00000409489	T;T;T	0.49720	1.09;0.77;0.78	4.7	-0.229	0.13094	GPCR, family 2, extracellular hormone receptor domain (3);	1.512350	0.03274	N	0.185233	T	0.44180	0.1281	L	0.34521	1.04	0.09310	N	1	P;P;B;B	0.36599	0.56;0.487;0.0;0.427	B;B;B;B	0.43809	0.401;0.432;0.002;0.148	T	0.37244	-0.9714	10	0.36615	T	0.2	.	7.3114	0.26477	0.0:0.4486:0.0:0.5514	.	98;98;98;98	B7ZLA7;Q17S10;E9PFU5;P41586	.;.;.;PACR_HUMAN	C	98	ENSP00000306620:S98C;ENSP00000379514:S98C;ENSP00000386395:S98C	ENSP00000306620:S98C	S	+	2	0	ADCYAP1R1	31087859	0.004000	0.15560	0.003000	0.11579	0.969000	0.65631	0.134000	0.15932	-0.121000	0.11787	-0.302000	0.09304	TCT		0.502	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		G	31121334	C	G	31121334	3	3	152	1	0	0	0	0	1	0	0	0	303	913	32	4	311	4	ADCYAP1R1	7	31121334	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10		31121334	128017329	38	9008											
TXNDC3	51314	hgsc.bcm.edu;ucsc.edu	37	7	37903001	37903001	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr7:37903001C>T	ENST00000199447.4	+	8	763	c.391C>T	c.(391-393)Cct>Tct	p.P131S	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.P131S	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	131					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TTCATAGTATCCTGAAATTCC	0.294																																																0													101	105	104					7																	37903001		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.391C>T	7.37:g.37903001C>T	ENSP00000199447:p.Pro131Ser		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.459354	0.01062	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T	0.35236	1.32;1.32	3.95	-1.71	0.08133	.	1.889970	0.02547	N	0.095237	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.17531	-1.0366	10	0.09843	T	0.71	-0.9595	7.5174	0.27608	0.5687:0.2785:0.1528:0.0	.	131	Q8N427	TXND3_HUMAN	S	131;76;76;131	ENSP00000199447:P131S;ENSP00000397063:P131S	ENSP00000199447:P131S	P	+	1	0	TXNDC3	37869526	0.001000	0.12720	0.114000	0.21550	0.047000	0.14425	-1.270000	0.02831	-0.349000	0.08274	-0.282000	0.10007	CCT		0.294	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		T	37903001	C	T	37903001	3	4	152	1	0	0	0	0	1	0	0	0	16803	855	30	2	413	2	TXNDC3	7	37903001	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	6781667	37903001	121235662	39	9009											
ZNF716	441234	hgsc.bcm.edu;ucsc.edu	37	7	57528629	57528629	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr7:57528629C>A	ENST00000420713.1	+	4	574	c.462C>A	c.(460-462)aaC>aaA	p.N154K		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						CTACCCAAAACAAAACATTTC	0.328																																																0													163	151	154					7																	57528629		692	1591	2283	SO:0001583	missense	441234			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.462C>A	7.37:g.57528629C>A	ENSP00000394248:p.Asn154Lys			Missense_Mutation	SNP	ENST00000420713.1	37	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	4.629	0.116989	0.08881	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.04809	3.55	0.195	0.195	0.15151	.	.	.	.	.	T	0.02083	0.0065	N	0.11427	0.14	0.09310	N	1	P	0.40144	0.704	B	0.32762	0.152	T	0.43278	-0.9401	9	0.51188	T	0.08	.	2.6947	0.05130	0.0:0.5591:0.0:0.4409	.	142	A6NP11	ZN716_HUMAN	K	154;142	ENSP00000394248:N154K	ENSP00000387687:N142K	N	+	3	2	ZNF716	57532571	0.115000	0.22152	0.129000	0.21949	0.127000	0.20565	1.447000	0.35101	0.300000	0.22699	0.306000	0.20318	AAC		0.328	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		A	57528629	C	A	57528629	3	1	152	1	0	0	0	0	1	0	0	0	18124	477	17	4	476	4	ZNF716	7	57528629	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	19625628	57528629	101610034	40	9010											
GIGYF1	64599	hgsc.bcm.edu	37	7	100282980	100282980	+	Silent	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr7:100282980G>A	ENST00000275732.5	-	10	2388	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	393					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGGCCGCTGGGGGCTCTTTCT	0.667																																																0													58	58	58					7																	100282980		2203	4300	6503	SO:0001819	synonymous_variant	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1179C>T	7.37:g.100282980G>A			Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	CCDS34708.1																																																																																				0.667	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		A	100282980	G	A	100282980	2	1	152	1	0	0	0	0	0	0	0	1	6379	1219	43	2		2	GIGYF1	7	100282980	Silent	SNP	G	TCGA-B0-4828-01A-01D-1361-10	42754351	100282980	58855683	41	9011											
SLC4A2	6522	hgsc.bcm.edu	37	7	150769065	150769065	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr7:150769065C>T	ENST00000485713.1	+	16	3417	c.2377C>T	c.(2377-2379)Cgt>Tgt	p.R793C	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R779C|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R711C|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R793C|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R784C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	793	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.R793C(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGGTGGGCCGTGTGTGGAT	0.642																																																1	Substitution - Missense(1)	prostate(1)											146	140	142					7																	150769065		2203	4300	6503	SO:0001583	missense	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2377C>T	7.37:g.150769065C>T	ENSP00000419412:p.Arg793Cys		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380045	0.82682	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	4.99	4.99	0.66335	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96997	0.9726	10	0.87932	D	0	.	15.8342	0.78787	0.0:1.0:0.0:0.0	.	784;779;793	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	C	793;793;711;784;779	ENSP00000419412:R793C;ENSP00000405600:R793C;ENSP00000311402:R711C;ENSP00000376571:R784C;ENSP00000419164:R779C	ENSP00000311402:R711C	R	+	1	0	SLC4A2	150399998	0.614000	0.27017	0.998000	0.56505	0.946000	0.59487	1.130000	0.31393	2.593000	0.87608	0.655000	0.94253	CGT		0.642	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		T	150769065	C	T	150769065	3	4	152	1	0	0	0	0	1	0	0	0	14660	652	23	1	2435	1	SLC4A2	7	150769065	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	50486085	150769065	8369598	42	9012											
EBF2	64641	hgsc.bcm.edu;ucsc.edu	37	8	25744374	25744374	+	Silent	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr8:25744374T>C	ENST00000520164.1	-	10	1443	c.906A>G	c.(904-906)agA>agG	p.R302R	EBF2_ENST00000535548.1_Silent_p.R33R|EBF2_ENST00000408929.3_Silent_p.R154R	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	302	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GAGTCTGTACTCTGATGGCAT	0.458																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											0													82	81	81					8																	25744374		1940	4148	6088	SO:0001819	synonymous_variant	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.906A>G	8.37:g.25744374T>C			A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	CCDS43726.1																																																																																				0.458	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		C	25744374	T	C	25744374	2	2	152	1	0	0	0	0	0	0	0	1	4883	1548	54	3		3	EBF2	8	25744374	Silent	SNP	T	TCGA-B0-4828-01A-01D-1361-10		25744374	120619648	43	9013											
PXDNL	137902	hgsc.bcm.edu;ucsc.edu	37	8	52320891	52320891	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr8:52320891T>A	ENST00000356297.4	-	17	3393	c.3293A>T	c.(3292-3294)gAc>gTc	p.D1098V	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1098V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1098					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAGAACCGGGTCTATCCCACC	0.552																																																0													54	57	56					8																	52320891		1875	4095	5970	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3293A>T	8.37:g.52320891T>A	ENSP00000348645:p.Asp1098Val		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.69|11.69	1.714847|1.714847	0.30413|0.30413	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.77489|.	-1.1;-1.1|.	3.82|3.82	2.57|2.57	0.30868|0.30868	.|.	0.111433|.	0.39020|.	N|.	0.001490|.	T|T	0.81163|0.81163	0.4765|0.4765	H|H	0.96518|0.96518	3.835|3.835	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.80372|0.80372	-0.1410|-0.1410	10|5	0.87932|.	D|.	0|.	.|.	7.2987|7.2987	0.26408|0.26408	0.1974:0.0:0.0:0.8026|0.1974:0.0:0.0:0.8026	.|.	1098|.	A1KZ92|.	PXDNL_HUMAN|.	V|S	1098|217	ENSP00000348645:D1098V;ENSP00000444865:D1098V|.	ENSP00000348645:D1098V|.	D|T	-|-	2|1	0|0	PXDNL|PXDNL	52483444|52483444	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	6.893000|6.893000	0.75649|0.75649	0.296000|0.296000	0.22592|0.22592	0.533000|0.533000	0.62120|0.62120	GAC|ACC		0.552	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		A	52320891	T	A	52320891	3	1	152	1	0	0	0	0	1	0	0	0	12854	1667	58	5	1126	5	PXDNL	8	52320891	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10	26576517	52320891	94043131	44	9014											
LAPTM4B	55353	hgsc.bcm.edu	37	8	98817636	98817636	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr8:98817636A>G	ENST00000521545.2	+	2	389	c.155A>G	c.(154-156)cAg>cGg	p.Q52R	LAPTM4B_ENST00000445593.2_Missense_Mutation_p.Q143R			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	196					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GATCCGGATCAGTATAACTTT	0.378																																																0													155	150	152					8																	98817636		2203	4300	6503	SO:0001583	missense	55353			AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.155A>G	8.37:g.98817636A>G	ENSP00000428409:p.Gln52Arg		Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	ENST00000521545.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.08|12.08	1.829645|1.829645	0.32329|0.32329	.|.	.|.	ENSG00000104341|ENSG00000104341	ENST00000445593;ENST00000378722;ENST00000521545|ENST00000517924	T;T|.	0.45276|.	0.9;0.94|.	5.07|5.07	3.91|3.91	0.45181|0.45181	.|.	0.128696|.	0.53938|.	D|.	0.000051|.	T|T	0.36717|0.36717	0.0977|0.0977	N|N	0.13043|0.13043	0.29|0.29	0.39585|0.39585	D|D	0.969493|0.969493	B|.	0.23128|.	0.08|.	B|.	0.20955|.	0.032|.	T|T	0.18587|0.18587	-1.0332|-1.0332	10|5	0.42905|.	T|.	0.14|.	-8.3472|-8.3472	8.2245|8.2245	0.31560|0.31560	0.907:0.0:0.093:0.0|0.907:0.0:0.093:0.0	.|.	196|.	Q86VI4|.	LAP4B_HUMAN|.	R|G	143;189;52|106	ENSP00000402301:Q143R;ENSP00000428409:Q52R|.	ENSP00000367995:Q189R|.	Q|S	+|+	2|1	0|0	LAPTM4B|LAPTM4B	98886812|98886812	1.000000|1.000000	0.71417|0.71417	0.496000|0.496000	0.27539|0.27539	0.395000|0.395000	0.30598|0.30598	4.715000|4.715000	0.61909|0.61909	2.036000|2.036000	0.60181|0.60181	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.378	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380016.2			G	98817636	A	G	98817636	3	3	152	1	0	0	0	0	1	0	0	0	8627	188	7	3	434	3	LAPTM4B	8	98817636	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	46496745	98817636	47546386	45	9015											
PKHD1L1	93035	hgsc.bcm.edu;ucsc.edu	37	8	110464467	110464467	+	Silent	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr8:110464467T>A	ENST00000378402.5	+	42	6569	c.6465T>A	c.(6463-6465)gcT>gcA	p.A2155A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2155	IPT/TIG 14.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGGGTGGGCTCCAGTTTGTG	0.448										HNSCC(38;0.096)																																						0													120	114	116					8																	110464467		1941	4155	6096	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6465T>A	8.37:g.110464467T>A			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110464467	T	A	110464467	2	1	152	1	0	0	0	0	0	0	0	1	11974	1538	54	5		5	PKHD1L1	8	110464467	Silent	SNP	T	TCGA-B0-4828-01A-01D-1361-10	11646831	110464467	35899555	46	9016											
SAMD12	401474	hgsc.bcm.edu;ucsc.edu	37	8	119452167	119452167	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr8:119452167G>C	ENST00000314727.4	-	3	362	c.226C>G	c.(226-228)Cta>Gta	p.L76V	SAMD12_ENST00000409003.4_Missense_Mutation_p.L76V	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	76										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TGGGTCCATAGAGCCACCGGT	0.428																																																0													147	128	135					8																	119452167		2203	4300	6503	SO:0001583	missense	401474			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"Sterile alpha motif (SAM) domain containing"	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.226C>G	8.37:g.119452167G>C	ENSP00000314173:p.Leu76Val		Q0P502	Missense_Mutation	SNP	ENST00000314727.4	37	CCDS6325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.27|18.27	3.586581|3.586581	0.66105|0.66105	.|.	.|.	ENSG00000177570|ENSG00000177570	ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328|ENST00000453675	D;D;D;D|.	0.84298|.	-1.83;-1.83;-1.83;-1.83|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.080328|.	0.51477|.	D|.	0.000095|.	T|T	0.61110|0.61110	0.2321|0.2321	L|L	0.54323|0.54323	1.7|1.7	0.40924|0.40924	D|D	0.984331|0.984331	P;D|.	0.76494|.	0.942;0.999|.	P;D|.	0.72338|.	0.64;0.977|.	T|T	0.60326|0.60326	-0.7285|-0.7285	9|5	.|.	.|.	.|.	-10.0957|-10.0957	9.9465|9.9465	0.41611|0.41611	0.1557:0.0:0.8443:0.0|0.1557:0.0:0.8443:0.0	.|.	76;76|.	B8ZZB7;Q8N8I0|.	.;SAM12_HUMAN|.	V|C	76;68;76;76|72	ENSP00000387133:L76V;ENSP00000435927:L68V;ENSP00000314173:L76V;ENSP00000431360:L76V|.	.|.	L|S	-|-	1|2	2|0	SAMD12|SAMD12	119521348|119521348	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.453000|5.453000	0.66645|0.66645	2.677000|2.677000	0.91161|0.91161	0.561000|0.561000	0.74099|0.74099	CTA|TCT		0.428	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		C	119452167	G	C	119452167	3	2	152	1	0	0	0	0	1	0	0	0	13823	933	33	4	414	4	SAMD12	8	119452167	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	8987700	119452167	26911855	47	9017											
C9orf82	79886	hgsc.bcm.edu	37	9	26842572	26842572	+	Silent	SNP	G	G	A	rs146970170		TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:26842572G>A	ENST00000333916.5	-	6	901	c.813C>T	c.(811-813)aaC>aaT	p.N271N	CAAP1_ENST00000520187.1_3'UTR|CAAP1_ENST00000535437.1_Silent_p.N126N	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	271					apoptotic process (GO:0006915)												CTGCTTCTTCGTTGCATGGGC	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19216	0.0		0.0	False		,,,				2504	0.0															0								G	,	2,4404	4.2+/-10.8	0,2,2201	228	226	227		378,813	-10.4	0.1	9	dbSNP_134	227	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C9orf82	NM_001167575.1,NM_024828.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	126/217,271/362	26842572	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"conserved anti-apoptotic protein"		"chromosome 9 open reading frame 82"	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.813C>T	9.37:g.26842572G>A			B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Silent	SNP	ENST00000333916.5	37	CCDS6516.1																																																																																				0.438	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		A	26842572	G	A	26842572	2	1	152	1	0	0	0	0	0	0	0	1	2501	1136	40	1		1	C9orf82	9	26842572	Silent	SNP	G	TCGA-B0-4828-01A-01D-1361-10		26842572	114370859	48	9018											
FLJ46321	389763	hgsc.bcm.edu	37	9	84608502	84608502	+	Silent	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:84608502A>T	ENST00000344803.2	+	4	3164	c.3117A>T	c.(3115-3117)tcA>tcT	p.S1039S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1039					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATTAGATTCAACAAGCTCAT	0.443																																																0													155	160	159					9																	84608502		1868	4097	5965	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3117A>T	9.37:g.84608502A>T				Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																				0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84608502	A	T	84608502	2	4	152	1	0	0	0	0	0	0	0	1	5934	117	5	5		5	FLJ46321	9	84608502	Silent	SNP	A	TCGA-B0-4828-01A-01D-1361-10	57765930	84608502	56604929	49	9019											
SPTLC1	10558	hgsc.bcm.edu	37	9	94843154	94843154	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:94843154T>C	ENST00000262554.2	-	4	357	c.352A>G	c.(352-354)Aag>Gag	p.K118E	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.K118E	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	118					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CTACTCACCTTAACCCTAGGG	0.413																																																0													107	90	96					9																	94843154		2203	4300	6503	SO:0001583	missense	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.352A>G	9.37:g.94843154T>C	ENSP00000262554:p.Lys118Glu		A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	T	7.912	0.736718	0.15574	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.95171	-2.64;-3.63	5.0	5.0	0.66597	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.88062	0.6336	N	0.16833	0.445	0.80722	D	1	B;B;B;B	0.20261	0.009;0.043;0.002;0.027	B;B;B;B	0.28011	0.085;0.042;0.01;0.085	T	0.82575	-0.0389	10	0.05721	T	0.95	-25.5988	14.8244	0.70101	0.0:0.0:0.0:1.0	.	118;118;113;118	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	E	118	ENSP00000262554:K118E;ENSP00000337635:K118E	ENSP00000262554:K118E	K	-	1	0	SPTLC1	93882975	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.806000	0.69150	2.227000	0.72691	0.455000	0.32223	AAG		0.413	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		C	94843154	T	C	94843154	3	2	152	1	0	0	0	0	1	0	0	0	15128	1763	61	3	1126	3	SPTLC1	9	94843154	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10	10234652	94843154	46370277	50	9020											
ZNF782	158431	hgsc.bcm.edu;ucsc.edu	37	9	99580432	99580432	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:99580432T>A	ENST00000481138.1	-	6	2534	c.1873A>T	c.(1873-1875)Aaa>Taa	p.K625*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K493*|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CTGAAAGCTTTTCCACATTCA	0.433																																																0													122	114	116					9																	99580432		2203	4300	6503	SO:0001587	stop_gained	158431			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1873A>T	9.37:g.99580432T>A	ENSP00000419397:p.Lys625*		B2RNR0	Nonsense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	35|35	5.421240|5.421240	0.96111|0.96111	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338	.|.	.|.	.|.	3.06|3.06	3.06|3.06	0.35304|0.35304	.|.	0.000000|0.000000	0.35646|0.35646	N|N	0.003064|0.003064	T|.	0.59280|.	0.2182|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57487|.	-0.7803|.	5|.	.|.	.|.	.|.	.|.	9.8434|9.8434	0.41013|0.41013	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	I|X	613|625;493	.|.	.|.	K|K	-|-	2|1	0|0	ZNF782|ZNF782	98620253|98620253	0.903000|0.903000	0.30736|0.30736	0.994000|0.994000	0.49952|0.49952	0.998000|0.998000	0.95712|0.95712	1.398000|1.398000	0.34554|0.34554	1.635000|1.635000	0.50512|0.50512	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		A	99580432	T	A	99580432	4	1	152	1	0	0	0	0	0	1	0	0	18160	1850	64	5	230	5	ZNF782	9	99580432	Nonsense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10	4737278	99580432	41632999	51	9021											
PHF19	26147	hgsc.bcm.edu	37	9	123620470	123620470	+	Missense_Mutation	SNP	G	G	C	rs150031973	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:123620470G>C	ENST00000373896.3	-	15	1747	c.1495C>G	c.(1495-1497)Ccc>Gcc	p.P499A	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.P290A	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	499					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTCCGAGGGGCAGCGTCCA	0.602																																																0													82	74	76					9																	123620470		2203	4300	6503	SO:0001583	missense	26147			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1495C>G	9.37:g.123620470G>C	ENSP00000363003:p.Pro499Ala		Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956113	0.34471	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155	T;T	0.47177	1.88;0.85	4.97	1.56	0.23342	.	0.564035	0.19473	N	0.113393	T	0.24353	0.0590	N	0.11560	0.145	0.27867	N	0.940169	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.13853	T	0.58	-6.9268	10.6184	0.45465	0.0:0.3572:0.5131:0.1296	.	499	Q5T6S3	PHF19_HUMAN	A	499;499;290	ENSP00000363003:P499A;ENSP00000407433:P290A	ENSP00000363003:P499A	P	-	1	0	PHF19	122660291	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.627000	0.37050	0.472000	0.27344	0.561000	0.74099	CCC		0.602	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		C	123620470	G	C	123620470	3	2	152	1	0	0	0	0	1	0	0	0	11831	1232	43	4	251	4	PHF19	9	123620470	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	24040038	123620470	17592961	52	9022											
FAM129B	64855	hgsc.bcm.edu;ucsc.edu	37	9	130294041	130294041	+	Silent	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:130294041G>A	ENST00000373312.3	-	2	285	c.72C>T	c.(70-72)atC>atT	p.I24I	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Silent_p.I11I	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	24					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACTCCGTCAGGATCTTCCCGG	0.572																																																0													82	73	76					9																	130294041		2203	4300	6503	SO:0001819	synonymous_variant	64855			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.72C>T	9.37:g.130294041G>A			Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	CCDS35145.1																																																																																				0.572	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		A	130294041	G	A	130294041	2	1	152	1	0	0	0	0	0	0	0	1	5439	1164	41	2		2	FAM129B	9	130294041	Silent	SNP	G	TCGA-B0-4828-01A-01D-1361-10	6673571	130294041	10919390	53	9023											
SLC39A12	221074	hgsc.bcm.edu	37	10	18280180	18280180	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr10:18280180G>A	ENST00000377369.2	+	8	1643	c.1370G>A	c.(1369-1371)gGa>gAa	p.G457E	SLC39A12_ENST00000539911.1_Missense_Mutation_p.G323E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G457E|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G457E	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	457					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGCATCCATGGATTTTTCTTG	0.328																																																0													92	99	96					10																	18280180		2203	4300	6503	SO:0001583	missense	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1370G>A	10.37:g.18280180G>A	ENSP00000366586:p.Gly457Glu		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304167	0.81136	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.92	5.92	0.95590	.	0.049668	0.85682	D	0.000000	T	0.70245	0.3202	M	0.76328	2.33	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.81914	0.995;0.971;0.993	T	0.65656	-0.6115	10	0.35671	T	0.21	-17.1745	20.3248	0.98698	0.0:0.0:1.0:0.0	.	457;457;457	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	E	457;457;457;323;377	ENSP00000366586:G457E;ENSP00000366591:G457E;ENSP00000366588:G457E;ENSP00000440445:G323E	ENSP00000366586:G457E	G	+	2	0	SLC39A12	18320186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.731000	0.62022	2.818000	0.97014	0.655000	0.94253	GGA		0.328	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		A	18280180	G	A	18280180	3	1	152	1	0	0	0	0	1	0	0	0	14621	1174	41	2	1396	2	SLC39A12	10	18280180	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10		18280180	117254567	54	9024											
ZNF488	118738	hgsc.bcm.edu;ucsc.edu	37	10	48371284	48371284	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr10:48371284C>T	ENST00000395702.2	+	2	979	c.752C>T	c.(751-753)cCc>cTc	p.P251L	ZNF488_ENST00000586537.1_Missense_Mutation_p.P144L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	251					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GTGCCCCCACCCTCATCATCC	0.592																																																0													93	83	86					10																	48371284		2203	4300	6503	SO:0001583	missense	118738			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.752C>T	10.37:g.48371284C>T	ENSP00000379054:p.Pro251Leu		Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770232	0.49680	.	.	ENSG00000165388	ENST00000395702	T	0.22539	1.95	4.97	4.97	0.65823	.	2.183520	0.02114	N	0.055021	T	0.36468	0.0968	L	0.47716	1.5	0.09310	N	0.999999	D	0.59767	0.986	P	0.51582	0.674	T	0.52449	-0.8574	10	0.20519	T	0.43	.	17.5931	0.88003	0.0:1.0:0.0:0.0	.	251	Q96MN9	ZN488_HUMAN	L	251	ENSP00000379054:P251L	ENSP00000379054:P251L	P	+	2	0	ZNF488	47991290	0.093000	0.21703	0.006000	0.13384	0.014000	0.08584	2.718000	0.47236	2.466000	0.83321	0.655000	0.94253	CCC		0.592	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		T	48371284	C	T	48371284	3	4	152	1	0	0	0	0	1	0	0	0	17945	623	22	2	754	2	ZNF488	10	48371284	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	30091104	48371284	87163463	55	9025											
CDH23	414152	hgsc.bcm.edu	37	10	73483833	73483833	+	Intron	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr10:73483833T>A	ENST00000398786.2	-	2	97				CDH23_ENST00000224721.6_Missense_Mutation_p.F1139Y	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GAGGGCGAGTTTGGGCGTGTG	0.587																																																0													64	73	70					10																	73483833		2055	4163	6218	SO:0001627	intron_variant	64072			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.5-7734A>T	10.37:g.73483833T>A				Missense_Mutation	SNP	ENST00000398786.2	37	CCDS44430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	15.87|15.87	2.960940|2.960940	0.53400|0.53400	.|.	.|.	ENSG00000107736|ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721|ENST00000398792	.|.	.|.	.|.	4.89|4.89	3.7|3.7	0.42460|0.42460	Cadherin (4);Cadherin-like (1);|.	0.136086|.	0.45361|.	D|.	0.000373|.	T|T	0.40719|0.40719	0.1128|0.1128	N|N	0.13327|0.13327	0.33|0.33	0.80722|0.80722	D|D	1|1	B;B|.	0.15719|.	0.014;0.001|.	B;B|.	0.16722|.	0.016;0.01|.	T|T	0.42396|0.42396	-0.9454|-0.9454	9|6	0.56958|0.87932	D|D	0.05|0	.|.	7.6788|7.6788	0.28500|0.28500	0.4629:0.0:0.0:0.5371|0.4629:0.0:0.0:0.5371	.|.	1134;1134|.	Q6P152;Q9H251|.	.;CAD23_HUMAN|.	Y|M	1139;1134;1137|5	.|.	ENSP00000224721:F1139Y|ENSP00000381772:L5M	F|L	+|+	2|1	0|2	CDH23|CDH23	73153839|73153839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.761000|0.761000	0.43186|0.43186	5.557000|5.557000	0.67313|0.67313	1.827000|1.827000	0.53221|0.53221	0.449000|0.449000	0.29647|0.29647	TTT|TTG		0.587	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		A	73483833	T	A	73483833	1	1	152	0	1	0	0	0	0	0	0	0	3110	1841	64	5		5	CDH23	10	73483833	Intron	SNP	T	TCGA-B0-4828-01A-01D-1361-10	25112549	73483833	62050914	56	9026											
C10orf82	143379	hgsc.bcm.edu;ucsc.edu	37	10	118424301	118424301	+	Silent	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr10:118424301G>A	ENST00000369210.3	-	4	486	c.432C>T	c.(430-432)gcC>gcT	p.A144A	C10orf82_ENST00000588184.1_Silent_p.A144A	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	144										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GTGCCTTCTTGGCCCTCTCCG	0.532																																																0													170	139	150					10																	118424301		2203	4300	6503	SO:0001819	synonymous_variant	143379			BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.432C>T	10.37:g.118424301G>A			B3KUM9|D3DRC3	Silent	SNP	ENST00000369210.3	37	CCDS7596.1																																																																																				0.532	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		A	118424301	G	A	118424301	2	1	152	1	0	0	0	0	0	0	0	1	1622	1335	47	2		2	C10orf82	10	118424301	Silent	SNP	G	TCGA-B0-4828-01A-01D-1361-10	44940468	118424301	17110446	57	9027											
HSPA12A	259217	hgsc.bcm.edu;ucsc.edu	37	10	118435938	118435938	+	Silent	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr10:118435938C>T	ENST00000369209.3	-	11	1466	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	454						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TATCGATGGTCGGCTTAAAAA	0.552																																																0													145	144	144					10																	118435938		2096	4239	6335	SO:0001819	synonymous_variant	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1362G>A	10.37:g.118435938C>T				Silent	SNP	ENST00000369209.3	37	CCDS41569.1																																																																																				0.552	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		T	118435938	C	T	118435938	2	4	152	1	0	0	0	0	0	0	0	1	7406	871	31	1		1	HSPA12A	10	118435938	Silent	SNP	C	TCGA-B0-4828-01A-01D-1361-10	11637	118435938	17098809	58	9028											
OVCH2	341277	hgsc.bcm.edu;ucsc.edu	37	11	7713157	7713157	+	RNA	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr11:7713157C>T	ENST00000533663.1	-	0	201				OVCH2_ENST00000534193.2_RNA|OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CTTTCTACATCGCTGTGCACT	0.458																																																0													109	119	116					11																	7713157		1973	4151	6124			341277			BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"ovochymase 2"			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7713157C>T				Missense_Mutation	SNP	ENST00000533663.1	37		.	.	.	.	.	.	.	.	.	.	C	18.49	3.635822	0.67130	.	.	ENSG00000183378	ENST00000454689	T	0.18338	2.22	5.09	5.09	0.68999	CUB (5);	0.000000	0.45606	D	0.000354	T	0.29652	0.0740	L	0.55481	1.735	0.26104	N	0.980777	D	0.71674	0.998	P	0.56434	0.798	T	0.06954	-1.0798	10	0.33141	T	0.24	-21.4935	14.3542	0.66724	0.0:1.0:0.0:0.0	.	495	Q7RTZ1	OVCH2_HUMAN	N	495	ENSP00000407158:D495N	ENSP00000407158:D495N	D	-	1	0	OVCH2	7669733	0.991000	0.36638	0.844000	0.33320	0.451000	0.32288	3.178000	0.50879	2.543000	0.85770	0.563000	0.77884	GAT		0.458	OVCH2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000383928.1	NM_198185		T	7713157	C	T	7713157	1	4	152	0	1	0	0	0	0	0	0	0	11326	884	31	1		1	OVCH2	11	7713157	RNA	SNP	C	TCGA-B0-4828-01A-01D-1361-10		7713157	127293359	59	9029											
SAA1	6288	hgsc.bcm.edu;ucsc.edu	37	11	18291358	18291358	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr11:18291358G>C	ENST00000405158.2	+	4	509	c.325G>C	c.(325-327)Gac>Cac	p.D109H	SAA1_ENST00000356524.4_Missense_Mutation_p.D109H|SAA1_ENST00000532858.1_Missense_Mutation_p.D109H	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	109					acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GAGTGGCAAAGACCCCAATCA	0.562																																																0													119	103	109					11																	18291358		2199	4293	6492	SO:0001583	missense	6288			M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"Endogenous ligands"	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.325G>C	11.37:g.18291358G>C	ENSP00000384906:p.Asp109His		P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000405158.2	37	CCDS7835.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612138	0.46631	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.14022	2.54;2.54;2.54	3.55	1.59	0.23543	.	0.061103	0.64402	D	0.000007	T	0.36635	0.0974	M	0.89353	3.025	0.34172	D	0.66988	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.48758	-0.9007	10	0.54805	T	0.06	.	6.7477	0.23470	0.1047:0.1795:0.7157:0.0	.	109;109	D3DQX7;P02735	.;SAA_HUMAN	H	109	ENSP00000348918:D109H;ENSP00000436866:D109H;ENSP00000384906:D109H	ENSP00000348918:D109H	D	+	1	0	SAA1	18247934	1.000000	0.71417	0.473000	0.27253	0.151000	0.21798	4.477000	0.60223	0.453000	0.26858	-0.304000	0.09214	GAC		0.562	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1	NM_199161		C	18291358	G	C	18291358	3	2	152	1	0	0	0	0	1	0	0	0	13804	942	33	4	335	4	SAA1	11	18291358	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	10578201	18291358	116715158	60	9030											
RPUSD4	84881	hgsc.bcm.edu	37	11	126080885	126080885	+	Silent	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr11:126080885T>A	ENST00000298317.4	-	2	308	c.255A>T	c.(253-255)cgA>cgT	p.R85R	RPUSD4_ENST00000534393.1_5'UTR|FAM118B_ENST00000529731.1_5'Flank|FAM118B_ENST00000360194.4_5'Flank|RPUSD4_ENST00000533628.1_Silent_p.R85R|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000533050.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	85					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TGGGGTGGACTCGCTGCAGCT	0.562																																																0													160	147	152					11																	126080885		2201	4299	6500	SO:0001819	synonymous_variant	84881			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.255A>T	11.37:g.126080885T>A			E9PML2|Q96K56	Silent	SNP	ENST00000298317.4	37	CCDS8469.1																																																																																				0.562	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		A	126080885	T	A	126080885	2	1	152	1	0	0	0	0	0	0	0	1	13675	1538	54	5		5	RPUSD4	11	126080885	Silent	SNP	T	TCGA-B0-4828-01A-01D-1361-10	107789527	126080885	8925631	61	9031											
CAPRIN2	65981	hgsc.bcm.edu;ucsc.edu	37	12	30872063	30872063	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:30872063T>A	ENST00000395805.2	-	12	2687	c.2140A>T	c.(2140-2142)Agt>Tgt	p.S714C	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.S749C|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.S749C|CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.S416C	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAACTACTACTTGCTGGAGGT	0.473																																																0													231	206	214					12																	30872063		2203	4300	6503	SO:0001583	missense	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2140A>T	12.37:g.30872063T>A	ENSP00000379150:p.Ser714Cys			Missense_Mutation	SNP	ENST00000395805.2	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027610	0.75390	.	.	ENSG00000110888	ENST00000433722;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.35	5.35	0.76521	.	1.274000	0.05111	N	0.488864	T	0.45418	0.1341	L	0.50333	1.59	0.45139	D	0.998157	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.995;0.997	D;D;D;P;D	0.68483	0.958;0.947;0.944;0.905;0.947	T	0.00423	-1.1748	10	0.62326	D	0.03	-10.096	13.9176	0.63908	0.0:0.0:0.0:1.0	.	440;714;749;749;749	E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;E4NKG2	.;.;.;CAPR2_HUMAN;.	C	495;714;749;416;749;440;668	ENSP00000415407:S495C;ENSP00000379150:S714C;ENSP00000251071:S749C;ENSP00000309785:S416C;ENSP00000391479:S749C;ENSP00000438010:S668C	ENSP00000251071:S749C	S	-	1	0	CAPRIN2	30763330	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.474000	0.45154	2.019000	0.59389	0.528000	0.53228	AGT		0.473	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		A	30872063	T	A	30872063	3	1	152	1	0	0	0	0	1	0	0	0	2638	1609	56	5	1162	5	CAPRIN2	12	30872063	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10		30872063	102979832	62	9032											
INHBE	83729	hgsc.bcm.edu;ucsc.edu	37	12	57850460	57850460	+	Missense_Mutation	SNP	C	C	G	rs375663495		TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:57850460C>G	ENST00000266646.2	+	2	1098	c.882C>G	c.(880-882)ttC>ttG	p.F294L	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	294					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CTGCCTCTTTCCATTCTGCCG	0.612											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)											0													105	80	88					12																	57850460		2203	4300	6503	SO:0001583	missense	83729				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.882C>G	12.37:g.57850460C>G	ENSP00000266646:p.Phe294Leu	1026		Missense_Mutation	SNP	ENST00000266646.2	37	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935066	0.92458	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;D	0.83075	-1.68;-1.68	4.79	4.79	0.61399	Transforming growth factor-beta, C-terminal (3);	0.052180	0.85682	D	0.000000	D	0.87103	0.6094	L	0.61218	1.895	0.80722	D	1	P	0.50066	0.931	P	0.53988	0.739	D	0.87471	0.2414	10	0.51188	T	0.08	-15.3388	17.1522	0.86781	0.0:1.0:0.0:0.0	.	294	P58166	INHBE_HUMAN	L	239;294	ENSP00000450212:F239L;ENSP00000266646:F294L	ENSP00000266646:F294L	F	+	3	2	INHBE	56136727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.853000	0.55941	2.653000	0.90120	0.655000	0.94253	TTC		0.612	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		G	57850460	C	G	57850460	3	3	152	1	0	0	0	0	1	0	0	0	7746	854	30	4	888	4	INHBE	12	57850460	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	26978397	57850460	76001435	63	9033											
LRIG3	121227	hgsc.bcm.edu;ucsc.edu	37	12	59271294	59271294	+	Silent	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:59271294C>A	ENST00000320743.3	-	15	2710	c.2424G>T	c.(2422-2424)gtG>gtT	p.V808V	LRIG3_ENST00000379141.4_Silent_p.V748V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	808					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCACGACACCCACAGTGGCCC	0.567			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													204	117	147					12																	59271294		2203	4300	6503	SO:0001819	synonymous_variant	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2424G>T	12.37:g.59271294C>A			Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	CCDS8960.1																																																																																				0.567	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		A	59271294	C	A	59271294	2	1	152	1	0	0	0	0	0	0	0	1	8948	581	21	4		4	LRIG3	12	59271294	Silent	SNP	C	TCGA-B0-4828-01A-01D-1361-10	1420834	59271294	74580601	64	9034											
E2F7	144455	hgsc.bcm.edu;ucsc.edu	37	12	77417897	77417897	+	Silent	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:77417897G>T	ENST00000322886.7	-	13	2869	c.2634C>A	c.(2632-2634)ggC>ggA	p.G878G	E2F7_ENST00000416496.2_3'UTR	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	878					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTCCAAGGCTGCCGGGTGTCT	0.517																																																0													103	98	100					12																	77417897		2203	4300	6503	SO:0001819	synonymous_variant	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2634C>A	12.37:g.77417897G>T			A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	CCDS9016.1																																																																																				0.517	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		T	77417897	G	T	77417897	2	4	152	1	0	0	0	0	0	0	0	1	4874	1306	46	4		4	E2F7	12	77417897	Silent	SNP	G	TCGA-B0-4828-01A-01D-1361-10	18146603	77417897	56433998	65	9035											
LTA4H	4048	hgsc.bcm.edu	37	12	96421314	96421314	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:96421314A>G	ENST00000228740.2	-	3	460	c.319T>C	c.(319-321)Ttt>Ctt	p.F107L	LTA4H_ENST00000413268.2_Missense_Mutation_p.F83L|LTA4H_ENST00000552789.1_Missense_Mutation_p.F83L|RP11-256L6.2_ENST00000547346.1_RNA	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	107					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GAGGTCTCAAAAGAAATTTCT	0.348																																																0													56	59	58					12																	96421314		2203	4300	6503	SO:0001583	missense	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.319T>C	12.37:g.96421314A>G	ENSP00000228740:p.Phe107Leu		B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.579180	0.46006	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.03441	3.93;3.93;3.93	5.79	5.79	0.91817	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.305862	0.38058	N	0.001827	T	0.04182	0.0116	N	0.17474	0.49	0.50313	D	0.999863	B;B;B	0.28667	0.219;0.099;0.022	B;B;B	0.32583	0.148;0.096;0.098	T	0.52533	-0.8563	10	0.59425	D	0.04	-24.7051	16.1376	0.81497	1.0:0.0:0.0:0.0	.	83;83;107	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	L	107;83;83	ENSP00000228740:F107L;ENSP00000449958:F83L;ENSP00000395051:F83L	ENSP00000228740:F107L	F	-	1	0	LTA4H	94945445	1.000000	0.71417	0.974000	0.42286	0.021000	0.10359	6.907000	0.75724	2.212000	0.71576	0.533000	0.62120	TTT		0.348	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		G	96421314	A	G	96421314	3	3	152	1	0	0	0	0	1	0	0	0	9071	14	1	3	1584	3	LTA4H	12	96421314	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	19003417	96421314	37430581	66	9036											
NEDD1	121441	hgsc.bcm.edu	37	12	97303545	97303545	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:97303545A>T	ENST00000266742.4	+	3	347	c.8A>T	c.(7-9)gAa>gTa	p.E3V	NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000429527.2_Missense_Mutation_p.E3V|NEDD1_ENST00000557644.1_Missense_Mutation_p.E10V|NEDD1_ENST00000457368.2_5'Flank	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	3					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GTCATGCAGGAAAACCTCAGA	0.328																																																0													85	82	83					12																	97303545		2203	4300	6503	SO:0001583	missense	121441				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"WD repeat domain containing"	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.8A>T	12.37:g.97303545A>T	ENSP00000266742:p.Glu3Val		B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228693	0.79576	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000554226;ENST00000557478;ENST00000557092;ENST00000557644	T;T;T;T;T	0.59364	0.27;0.27;0.98;0.78;0.56	5.46	5.46	0.80206	WD40-repeat-containing domain (1);	0.094457	0.64402	D	0.000001	T	0.69780	0.3149	L	0.53249	1.67	0.80722	D	1	D;D	0.67145	0.996;0.988	P;P	0.62298	0.9;0.723	T	0.73269	-0.4036	10	0.87932	D	0	-24.0788	15.5369	0.76011	1.0:0.0:0.0:0.0	.	10;3	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	V	3;3;10;3;3;10	ENSP00000266742:E3V;ENSP00000404978:E3V;ENSP00000450881:E10V;ENSP00000451869:E3V;ENSP00000451211:E10V	ENSP00000266742:E3V	E	+	2	0	NEDD1	95827676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.239000	0.78182	2.087000	0.62958	0.459000	0.35465	GAA		0.328	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			T	97303545	A	T	97303545	3	4	152	1	0	0	0	0	1	0	0	0	10311	246	9	5	35	5	NEDD1	12	97303545	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	882231	97303545	36548350	67	9037											
RNF17	56163	hgsc.bcm.edu	37	13	25367296	25367296	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr13:25367296C>G	ENST00000255324.5	+	10	1104	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	RNF17_ENST00000255325.6_Missense_Mutation_p.S351C|RNF17_ENST00000381921.1_Missense_Mutation_p.S351C|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	351					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTTGACATGTCTGTCCTAACC	0.373																																																0													189	176	180					13																	25367296		2203	4300	6503	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1052C>G	13.37:g.25367296C>G	ENSP00000255324:p.Ser351Cys		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	6.821	0.520569	0.13005	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.19938	3.37;3.38;2.11	5.03	4.18	0.49190	.	2.311560	0.01412	N	0.014047	T	0.32971	0.0847	N	0.24115	0.695	0.09310	N	1	P;P;D	0.69078	0.923;0.923;0.997	B;B;P	0.60236	0.436;0.338;0.871	T	0.32295	-0.9912	10	0.72032	D	0.01	-0.9547	9.6363	0.39809	0.0:0.9045:0.0:0.0955	.	351;351;351	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	C	351;351;210;352;351	ENSP00000255324:S351C;ENSP00000371346:S351C;ENSP00000255325:S352C	ENSP00000255324:S351C	S	+	2	0	RNF17	24265296	0.009000	0.17119	0.010000	0.14722	0.143000	0.21401	0.693000	0.25497	1.334000	0.45468	0.650000	0.86243	TCT		0.373	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		G	25367296	C	G	25367296	3	3	152	1	0	0	0	0	1	0	0	0	13467	913	32	4	1090	4	RNF17	13	25367296	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10		25367296	89802582	68	9038											
FREM2	341640	hgsc.bcm.edu	37	13	39264018	39264018	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr13:39264018T>C	ENST00000280481.7	+	1	2753	c.2537T>C	c.(2536-2538)aTc>aCc	p.I846T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	846					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTCACCACATCCTGAGTGAG	0.512																																																0													110	104	106					13																	39264018		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2537T>C	13.37:g.39264018T>C	ENSP00000280481:p.Ile846Thr		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	0.492	-0.875048	0.02550	.	.	ENSG00000150893	ENST00000280481	T	0.26957	1.7	5.8	4.61	0.57282	.	0.407398	0.27117	N	0.020848	T	0.15522	0.0374	N	0.20357	0.565	0.42558	D	0.993131	B	0.09022	0.002	B	0.14023	0.01	T	0.08330	-1.0727	10	0.13108	T	0.6	.	12.1068	0.53818	0.0:0.0683:0.0:0.9317	.	846	Q5SZK8	FREM2_HUMAN	T	846	ENSP00000280481:I846T	ENSP00000280481:I846T	I	+	2	0	FREM2	38162018	0.167000	0.22975	0.989000	0.46669	0.988000	0.76386	2.874000	0.48483	2.224000	0.72417	0.533000	0.62120	ATC		0.512	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		C	39264018	T	C	39264018	3	2	152	1	0	0	0	0	1	0	0	0	6047	1435	50	3	2539	3	FREM2	13	39264018	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10	13896722	39264018	75905860	69	9039											
KTN1	3895	hgsc.bcm.edu;ucsc.edu	37	14	56103977	56103977	+	Silent	SNP	A	A	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr14:56103977A>G	ENST00000395314.3	+	11	1679	c.1611A>G	c.(1609-1611)acA>acG	p.T537T	KTN1_ENST00000395309.3_Silent_p.T537T|KTN1_ENST00000395311.1_Silent_p.T537T|KTN1_ENST00000416613.1_Silent_p.T537T|KTN1_ENST00000413890.2_Silent_p.T537T|KTN1_ENST00000438792.2_Silent_p.T537T|KTN1_ENST00000395308.1_Silent_p.T537T	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	537					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GTAAGCTTACAGATACCTTGG	0.358			T	RET	papillary thryoid																																		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													105	107	106					14																	56103977		2202	4300	6502	SO:0001819	synonymous_variant	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1611A>G	14.37:g.56103977A>G			B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	CCDS41957.1																																																																																				0.358	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			G	56103977	A	G	56103977	2	3	152	1	0	0	0	0	0	0	0	1	8587	175	7	3		3	KTN1	14	56103977	Silent	SNP	A	TCGA-B0-4828-01A-01D-1361-10		56103977	51245563	70	9040											
ZFYVE26	23503	hgsc.bcm.edu	37	14	68229089	68229089	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr14:68229089T>C	ENST00000347230.4	-	34	6338	c.6200A>G	c.(6199-6201)cAt>cGt	p.H2067R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H2067R|ZFYVE26_ENST00000557306.1_5'Flank	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2067					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCCCAAGCATGCCACGCCCC	0.542																																																0													68	57	61					14																	68229089		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6200A>G	14.37:g.68229089T>C	ENSP00000251119:p.His2067Arg		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922746	0.52653	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26957	1.84;1.7	5.65	5.65	0.86999	.	0.055763	0.64402	D	0.000001	T	0.30759	0.0775	L	0.29908	0.895	0.40492	D	0.980557	D;P	0.56287	0.975;0.915	P;P	0.54060	0.741;0.471	T	0.03335	-1.1047	10	0.22706	T	0.39	-14.585	15.8848	0.79238	0.0:0.0:0.0:1.0	.	2067;2067	G3V2D8;Q68DK2	.;ZFY26_HUMAN	R	2067;2046;2067	ENSP00000251119:H2067R;ENSP00000450603:H2067R	ENSP00000251119:H2067R	H	-	2	0	ZFYVE26	67298842	1.000000	0.71417	0.976000	0.42696	0.724000	0.41520	6.289000	0.72696	2.156000	0.67533	0.533000	0.62120	CAT		0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		C	68229089	T	C	68229089	3	2	152	1	0	0	0	0	1	0	0	0	17673	1464	51	3	1455	3	ZFYVE26	14	68229089	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10	12125112	68229089	39120451	71	9041											
BRF1	2972	hgsc.bcm.edu	37	14	105695184	105695184	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr14:105695184T>G	ENST00000546474.1	-	7	15720	c.761A>C	c.(760-762)aAa>aCa	p.K254T	BRF1_ENST00000392557.4_Missense_Mutation_p.K50T|BRF1_ENST00000446501.2_Missense_Mutation_p.K16T|BRF1_ENST00000379932.4_Missense_Mutation_p.K50T|BRF1_ENST00000551787.1_Missense_Mutation_p.K50T|BRF1_ENST00000379937.2_Missense_Mutation_p.K227T|BRF1_ENST00000440513.3_Missense_Mutation_p.K139T|BRF1_ENST00000327359.3_Missense_Mutation_p.K139T	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	254					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CTCACACACTTTGACCACACT	0.582																																																0													411	376	388					14																	105695184		2203	4300	6503	SO:0001583	missense	2972			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.761A>C	14.37:g.105695184T>G	ENSP00000448323:p.Lys254Thr		B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	CCDS10001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.5|25.5	4.643679|4.643679	0.87859|0.87859	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000446501;ENST00000551787;ENST00000379932;ENST00000332890;ENST00000327359;ENST00000440513;ENST00000549655;ENST00000552127|ENST00000546417	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81069|0.81069	0.4746|0.4746	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.85130|.	0.994;0.996;0.997|.	D|D	0.85345|0.85345	0.1098|0.1098	9|5	0.66056|.	D|.	0.02|.	.|.	12.9512|12.9512	0.58401|0.58401	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	139;227;254|.	F5H5Z7;Q92994-5;Q92994|.	.;.;TF3B_HUMAN|.	T|H	50;227;254;16;50;50;50;139;139;50;50|107	.|.	ENSP00000329029:K139T|.	K|Q	-|-	2|3	0|2	BRF1|BRF1	104766229|104766229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.231000|7.231000	0.78106|0.78106	1.943000|1.943000	0.56356|0.56356	0.482000|0.482000	0.46254|0.46254	AAA|CAA		0.582	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		G	105695184	T	G	105695184	3	3	152	1	0	0	0	0	1	0	0	0	1512	1841	64	5	1320	5	BRF1	14	105695184	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10	37466095	105695184	1654356	72	9042											
DISP2	85455	hgsc.bcm.edu	37	15	40661375	40661375	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr15:40661375T>C	ENST00000267889.3	+	8	3149	c.3062T>C	c.(3061-3063)tTt>tCt	p.F1021S	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1021					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GAGGCCCTGTTTCTCTCTGCC	0.597																																																0													77	73	74					15																	40661375		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3062T>C	15.37:g.40661375T>C	ENSP00000267889:p.Phe1021Ser		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.750549	0.31046	.	.	ENSG00000140323	ENST00000267889	D	0.91686	-2.89	4.88	4.88	0.63580	.	0.050869	0.85682	D	0.000000	D	0.92954	0.7758	L	0.40543	1.245	0.45272	D	0.998276	D	0.76494	0.999	D	0.68943	0.961	D	0.90932	0.4791	10	0.21014	T	0.42	-12.7758	14.6562	0.68835	0.0:0.0:0.0:1.0	.	1021	A7MBM2	DISP2_HUMAN	S	1021	ENSP00000267889:F1021S	ENSP00000267889:F1021S	F	+	2	0	DISP2	38448667	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	4.105000	0.57797	2.045000	0.60652	0.418000	0.28097	TTT		0.597	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		C	40661375	T	C	40661375	3	2	152	1	0	0	0	0	1	0	0	0	4542	1841	64	3	3092	3	DISP2	15	40661375	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10		40661375	61870017	73	9043											
LCMT2	9836	hgsc.bcm.edu	37	15	43621544	43621544	+	Silent	SNP	G	G	T	rs561380150		TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr15:43621544G>T	ENST00000305641.5	-	1	1259	c.1144C>A	c.(1144-1146)Cgg>Agg	p.R382R	ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	382					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CGGCAGTGCCGCCCCTCCTGC	0.547																																																0													68	68	68					15																	43621544		2201	4299	6500	SO:0001819	synonymous_variant	9836			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1144C>A	15.37:g.43621544G>T			Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	CCDS10094.1																																																																																				0.547	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		T	43621544	G	T	43621544	2	4	152	1	0	0	0	0	0	0	0	1	8681	1086	38	4		4	LCMT2	15	43621544	Silent	SNP	G	TCGA-B0-4828-01A-01D-1361-10	2960169	43621544	58909848	74	9044											
LMAN1L	79748	hgsc.bcm.edu;ucsc.edu	37	15	75115023	75115023	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr15:75115023C>G	ENST00000309664.5	+	11	1311	c.1172C>G	c.(1171-1173)aCt>aGt	p.T391S	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.T379S	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	391						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGACAGTGGACTCTGCTCCAG	0.602																																																0													53	52	52					15																	75115023		2197	4296	6493	SO:0001583	missense	79748			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1172C>G	15.37:g.75115023C>G	ENSP00000310431:p.Thr391Ser		Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422097	0.25639	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.39997	1.13;1.05	4.85	2.92	0.33932	.	0.722003	0.12846	N	0.434387	T	0.45337	0.1337	N	0.22421	0.69	0.21740	N	0.999567	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	T	0.19063	-1.0317	10	0.41790	T	0.15	.	6.7087	0.23264	0.0:0.7241:0.1794:0.0965	.	379;391	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	S	391;379	ENSP00000310431:T391S;ENSP00000369031:T379S	ENSP00000310431:T391S	T	+	2	0	LMAN1L	72902076	0.970000	0.33590	0.786000	0.31890	0.105000	0.19272	1.157000	0.31724	0.732000	0.32470	0.462000	0.41574	ACT		0.602	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			G	75115023	C	G	75115023	3	3	152	1	0	0	0	0	1	0	0	0	8839	565	20	4	1214	4	LMAN1L	15	75115023	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	31493479	75115023	27416369	75	9045											
TPSB2	64499	hgsc.bcm.edu	37	16	1278744	1278744	+	RNA	SNP	C	C	T	rs62012862	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr16:1278744C>T	ENST00000339687.6	-	0	757				TPSB2_ENST00000430512.2_RNA|TPSB2_ENST00000445910.1_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				ACAGCCCTCGCCCCAGCTGAC	0.652																																																0													29	30	29					16																	1278744		2170	4273	6443			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1278744C>T			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	ENST00000339687.6	37		778	0.35622710622710624	144	0.2926829268292683	103	0.2845303867403315	270	0.47202797202797203	261	0.34432717678100266	C	8.160	0.789294	0.16258	.	.	ENSG00000197253	ENST00000430512	D	0.86432	-2.12	3.8	1.75	0.24633	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.691412	0.12501	N	0.463392	T	0.00012	0.0000	.	.	.	0.37969	P	0.06676899999999997	B	0.29378	0.243	B	0.30105	0.111	T	0.18429	-1.0337	8	0.59425	D	0.04	.	9.6078	0.39643	0.0:0.7626:0.1442:0.0932	rs62012862	245	P20231	TRYB2_HUMAN	D	244	ENSP00000412409:G244D	ENSP00000412409:G244D	G	-	2	0	TPSB2	1218745	0.438000	0.25602	0.145000	0.22337	0.061000	0.15899	1.805000	0.38883	-0.052000	0.13311	-1.134000	0.01955	GGC		0.652	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164		T	1278744	C	T	1278744	1	4	152	0	1	0	0	0	0	0	0	0	16429	739	26	2		2	TPSB2	16	1278744	RNA	SNP	C	TCGA-B0-4828-01A-01D-1361-10		1278744	89076009	76	9046											
UQCRC2	7385	hgsc.bcm.edu	37	16	21974117	21974117	+	Missense_Mutation	SNP	C	C	T	rs139500759		TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr16:21974117C>T	ENST00000268379.4	+	6	1189	c.425C>T	c.(424-426)aCa>aTa	p.T142I	UQCRC2_ENST00000561553.1_Missense_Mutation_p.T142I	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	142					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AATGTCACCACAGCACCAGAA	0.413																																					Colon(123;450 1645 12841 25393 45623)											0								C	ILE/THR	1,4395	2.1+/-5.4	0,1,2197	133	121	125		425	4.9	1	16	dbSNP_134	125	0,8600		0,0,4300	no	missense	UQCRC2	NM_003366.2	89	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	142/454	21974117	1,12995	2198	4300	6498	SO:0001583	missense	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.425C>T	16.37:g.21974117C>T	ENSP00000268379:p.Thr142Ile		B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526071	0.64860	2.27E-4	0.0	ENSG00000140740	ENST00000268379	T	0.16457	2.34	4.88	4.88	0.63580	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	M	0.85859	2.78	0.80722	D	1	B	0.22746	0.074	B	0.29524	0.103	T	0.18871	-1.0323	10	0.54805	T	0.06	-11.1939	16.9872	0.86342	0.0:1.0:0.0:0.0	.	142	P22695	QCR2_HUMAN	I	142	ENSP00000268379:T142I	ENSP00000268379:T142I	T	+	2	0	UQCRC2	21881618	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	7.374000	0.79633	2.411000	0.81874	0.563000	0.77884	ACA		0.413	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		T	21974117	C	T	21974117	3	4	152	1	0	0	0	0	1	0	0	0	17025	478	17	2	447	2	UQCRC2	16	21974117	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	20695373	21974117	68380636	77	9047											
SF3B3	23450	hgsc.bcm.edu;ucsc.edu	37	16	70605091	70605091	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr16:70605091T>A	ENST00000302516.5	+	25	3713	c.3502T>A	c.(3502-3504)Ttc>Atc	p.F1168I		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1168					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTCCTACTACTTCCCTGTGAA	0.552																																																0													99	87	91					16																	70605091		2198	4300	6498	SO:0001583	missense	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3502T>A	16.37:g.70605091T>A	ENSP00000305790:p.Phe1168Ile		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.202102	0.58234	.	.	ENSG00000189091	ENST00000302516	T	0.41400	1.0	5.78	5.78	0.91487	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.056318	0.64402	D	0.000001	T	0.46444	0.1393	M	0.68728	2.09	0.80722	D	1	B	0.30146	0.27	B	0.35931	0.214	T	0.36480	-0.9746	10	0.22109	T	0.4	.	16.1146	0.81295	0.0:0.0:0.0:1.0	.	1168	Q15393	SF3B3_HUMAN	I	1168	ENSP00000305790:F1168I	ENSP00000305790:F1168I	F	+	1	0	SF3B3	69162592	1.000000	0.71417	0.992000	0.48379	0.838000	0.47535	7.961000	0.87903	2.200000	0.70718	0.460000	0.39030	TTC		0.552	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		A	70605091	T	A	70605091	3	1	152	1	0	0	0	0	1	0	0	0	14158	1609	56	5	3596	5	SF3B3	16	70605091	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10	48630974	70605091	19749662	78	9048											
MARVELD3	91862	hgsc.bcm.edu	37	16	71663303	71663303	+	Silent	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr16:71663303C>T	ENST00000268485.3	+	2	545	c.501C>T	c.(499-501)acC>acT	p.T167T	MARVELD3_ENST00000299952.4_Silent_p.T167T|MARVELD3_ENST00000565261.1_Missense_Mutation_p.P113L|MARVELD3_ENST00000567566.1_Silent_p.T167T|RP11-432I5.2_ENST00000562763.1_RNA|MARVELD3_ENST00000567501.1_5'UTR	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	167	Pro-rich.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TGCCCTCGACCCCCAGGCCTG	0.507																																																0													94	88	90					16																	71663303		2198	4300	6498	SO:0001819	synonymous_variant	91862			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.501C>T	16.37:g.71663303C>T			A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000268485.3	37	CCDS10904.1																																																																																				0.507	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		T	71663303	C	T	71663303	2	4	152	1	0	0	0	0	0	0	0	1	9321	610	22	2		2	MARVELD3	16	71663303	Silent	SNP	C	TCGA-B0-4828-01A-01D-1361-10	1058212	71663303	18691450	79	9049											
ALOX15B	247	hgsc.bcm.edu;ucsc.edu	37	17	7945736	7945736	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr17:7945736G>T	ENST00000380183.4	+	4	638	c.499G>T	c.(499-501)Gtg>Ttg	p.V167L	ALOX15B_ENST00000572022.1_Missense_Mutation_p.V167L|ALOX15B_ENST00000573359.1_Missense_Mutation_p.V167L|ALOX15B_ENST00000380173.2_Missense_Mutation_p.V167L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	167	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				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						TGAAAAGACAGTGGAAGACTT	0.542																																																0													106	93	97					17																	7945736		2203	4300	6503	SO:0001583	missense	247			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.499G>T	17.37:g.7945736G>T	ENSP00000369530:p.Val167Leu		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	G	2.185	-0.386736	0.04966	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.89552	-2.53;-2.53	4.39	0.0668	0.14363	Lipoxygenase, C-terminal (2);	0.588812	0.17391	N	0.175916	T	0.69931	0.3166	N	0.08118	0	0.09310	N	1	B;B;B;B	0.09022	0.001;0.002;0.002;0.001	B;B;B;B	0.12837	0.002;0.008;0.003;0.002	T	0.55392	-0.8148	10	0.11485	T	0.65	-7.5759	4.0109	0.09623	0.3456:0.2695:0.3849:0.0	.	167;167;167;167	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	L	167	ENSP00000369520:V167L;ENSP00000369530:V167L	ENSP00000344337:V167L	V	+	1	0	ALOX15B	7886461	0.000000	0.05858	0.009000	0.14445	0.040000	0.13550	0.217000	0.17603	0.361000	0.24292	0.561000	0.74099	GTG		0.542	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			T	7945736	G	T	7945736	3	4	152	1	0	0	0	0	1	0	0	0	539	1029	36	4	513	4	ALOX15B	17	7945736	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10		7945736	73249474	80	9050											
GAS2L2	246176	hgsc.bcm.edu	37	17	34071950	34071950	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr17:34071950G>T	ENST00000254466.6	-	6	2593	c.2566C>A	c.(2566-2568)Ccc>Acc	p.P856T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P840T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	856					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGGTTGGGGGCTGCTCTCC	0.602																																																0													85	66	73					17																	34071950		2203	4300	6503	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2566C>A	17.37:g.34071950G>T	ENSP00000254466:p.Pro856Thr		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	9.577	1.122521	0.20877	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	T	0.17528	2.27	4.92	0.0716	0.14383	.	1.057410	0.07377	N	0.886803	T	0.09468	0.0233	N	0.24115	0.695	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.40646	-0.9552	10	0.18276	T	0.48	0.1639	3.3423	0.07123	0.2146:0.0:0.3927:0.3926	.	856	Q8NHY3	GA2L2_HUMAN	T	856;270	ENSP00000254466:P856T	ENSP00000254466:P856T	P	-	1	0	GAS2L2	31096063	0.001000	0.12720	0.006000	0.13384	0.058000	0.15608	0.122000	0.15687	0.212000	0.20703	0.462000	0.41574	CCC		0.602	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		T	34071950	G	T	34071950	3	4	152	1	0	0	0	0	1	0	0	0	6249	1232	43	4	80	4	GAS2L2	17	34071950	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	26126214	34071950	47123260	81	9051											
ACSF2	80221	hgsc.bcm.edu;ucsc.edu	37	17	48549808	48549808	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr17:48549808A>T	ENST00000300441.4	+	12	1447	c.1343A>T	c.(1342-1344)gAg>gTg	p.E448V	ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000427954.2_Missense_Mutation_p.E473V|ACSF2_ENST00000502667.1_Missense_Mutation_p.E435V|ACSF2_ENST00000541920.1_Missense_Mutation_p.E288V|ACSF2_ENST00000504392.1_Missense_Mutation_p.E405V	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	448					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ATGAACATGGAGGCAGGGACG	0.587																																																0													63	57	59					17																	48549808		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1343A>T	17.37:g.48549808A>T	ENSP00000300441:p.Glu448Val		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.299332	0.40694	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.09	3.99	0.46301	AMP-dependent synthetase/ligase (1);	0.574688	0.18588	N	0.136812	T	0.43299	0.1241	L	0.48362	1.52	0.28237	N	0.925844	B;B;B;B	0.26147	0.031;0.143;0.031;0.031	B;B;B;B	0.32211	0.1;0.142;0.1;0.142	T	0.41645	-0.9497	10	0.51188	T	0.08	-5.1502	10.4112	0.44294	0.6848:0.3151:0.0:0.0	.	435;473;405;448	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	V	448;288;405;473;435	ENSP00000300441:E448V;ENSP00000437987:E288V;ENSP00000425964:E405V;ENSP00000401831:E473V;ENSP00000421884:E435V	ENSP00000300441:E448V	E	+	2	0	ACSF2	45904807	0.986000	0.35501	0.002000	0.10522	0.071000	0.16799	2.916000	0.48813	0.754000	0.32968	0.454000	0.30748	GAG		0.587	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		T	48549808	A	T	48549808	3	4	152	1	0	0	0	0	1	0	0	0	175	304	11	5	1389	5	ACSF2	17	48549808	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	14477858	48549808	32645402	82	9052											
CACNA1G	8913	hgsc.bcm.edu	37	17	48680508	48680508	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr17:48680508A>T	ENST00000359106.5	+	21	4117	c.4117A>T	c.(4117-4119)Atc>Ttc	p.I1373F	CACNA1G_ENST00000512389.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000502264.1_Missense_Mutation_p.I1350F|CACNA1G_ENST00000358244.5_Missense_Mutation_p.I1350F|CACNA1G_ENST00000510366.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000354983.4_Missense_Mutation_p.I1350F|CACNA1G_ENST00000514717.1_Missense_Mutation_p.I1350F|CACNA1G_ENST00000429973.2_Missense_Mutation_p.I1373F|CACNA1G_ENST00000352832.5_Missense_Mutation_p.I1350F|CACNA1G_ENST00000514181.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000442258.2_Missense_Mutation_p.I1350F|CACNA1G_ENST00000513964.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000503485.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000510115.1_Missense_Mutation_p.I1350F|CACNA1G_ENST00000505165.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000507510.2_Missense_Mutation_p.I1373F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.I1373F|CACNA1G_ENST00000515165.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000360761.4_Missense_Mutation_p.I1350F|CACNA1G_ENST00000507896.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000514079.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000507609.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000416767.4_Missense_Mutation_p.I1373F	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1373					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGCACCAAGATCCTGGGCAT	0.647																																																0													94	103	100					17																	48680508		2197	4284	6481	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4117A>T	17.37:g.48680508A>T	ENSP00000352011:p.Ile1373Phe		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	a	27.8	4.867976	0.91587	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	4.82	4.82	0.62117	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97387	0.9145	L	0.43701	1.375	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.982;1.0;0.999;0.992;1.0;0.999;0.985;1.0;0.985;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.993;1.0;1.0;0.992;1.0;1.0;1.0;0.971;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.98;1.0;0.999;0.992;0.999;0.998;0.992;0.999;0.992;1.0;0.999;0.994;0.991;0.999;0.999;0.999;1.0;0.987;0.999;1.0;0.99;0.999;0.999;1.0;0.953;1.0	D	0.98085	1.0406	10	0.62326	D	0.03	.	14.3855	0.66942	1.0:0.0:0.0:0.0	.	403;1350;1373;1373;1373;1373;1373;1373;1373;1373;1373;1373;1350;1373;1373;1373;1373;1373;1350;1373;1350;1350;1350;1350;1373;1350;1373	B4DKD3;Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	F	1350;1350;1373;1350;1350;1350;1373;1373;1350;1373;1373;1373;1373;1373;1373;1350;1373;1373;1373;1373;1350;1373;1373;1373;1373;1373;188	ENSP00000353990:I1350F;ENSP00000339302:I1350F;ENSP00000392390:I1373F;ENSP00000347078:I1350F;ENSP00000409759:I1350F;ENSP00000425522:I1350F;ENSP00000426261:I1373F;ENSP00000425451:I1373F;ENSP00000422407:I1350F;ENSP00000426814:I1373F;ENSP00000427238:I1373F;ENSP00000423112:I1373F;ENSP00000420918:I1373F;ENSP00000426172:I1373F;ENSP00000423045:I1373F;ENSP00000427173:I1350F;ENSP00000426098:I1373F;ENSP00000425698:I1373F;ENSP00000426232:I1373F;ENSP00000423317:I1373F;ENSP00000350979:I1350F;ENSP00000352011:I1373F;ENSP00000414388:I1373F;ENSP00000423155:I1373F;ENSP00000422268:I1373F;ENSP00000421518:I1373F;ENSP00000427697:I188F	ENSP00000339302:I1350F	I	+	1	0	CACNA1G	46035507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.320000	0.96346	1.812000	0.52913	0.402000	0.26972	ATC		0.647	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		T	48680508	A	T	48680508	3	4	152	1	0	0	0	0	1	0	0	0	2546	333	12	5	4199	5	CACNA1G	17	48680508	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	130700	48680508	32514702	83	9053											
ABCA9	10350	hgsc.bcm.edu	37	17	67016618	67016618	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr17:67016618A>T	ENST00000340001.4	-	19	2722	c.2511T>A	c.(2509-2511)agT>agA	p.S837R	ABCA9_ENST00000453985.2_Missense_Mutation_p.S837R|ABCA9_ENST00000370732.2_Missense_Mutation_p.S837R|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	837					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCGCCACGCCACTGATTGTTT	0.438																																																0													117	109	112					17																	67016618		2203	4300	6503	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2511T>A	17.37:g.67016618A>T	ENSP00000342216:p.Ser837Arg		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.482196	0.63962	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.78003	-1.14;-1.14	5.08	-9.72	0.00515	.	0.235184	0.29119	N	0.013097	T	0.72252	0.3437	M	0.76727	2.345	0.21473	N	0.999678	B;B	0.26975	0.165;0.137	B;B	0.34346	0.135;0.18	T	0.59332	-0.7474	10	0.56958	D	0.05	.	13.2467	0.60028	0.1628:0.0:0.7436:0.0935	.	837;837	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	R	837;820;837;832	ENSP00000342216:S837R;ENSP00000359767:S837R	ENSP00000342216:S837R	S	-	3	2	ABCA9	64528213	0.000000	0.05858	0.001000	0.08648	0.633000	0.38033	-3.588000	0.00422	-1.918000	0.01072	0.443000	0.29094	AGT		0.438	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		T	67016618	A	T	67016618	3	4	152	1	0	0	0	0	1	0	0	0	39	156	6	5	2447	5	ABCA9	17	67016618	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	18336110	67016618	14178592	84	9054											
ASXL3	80816	hgsc.bcm.edu	37	18	31324446	31324446	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr18:31324446C>A	ENST00000269197.5	+	12	4634	c.4634C>A	c.(4633-4635)gCa>gAa	p.A1545E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTTCGGCAGCAAAACAAGAC	0.502											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													33	34	34					18																	31324446		2025	4183	6208	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4634C>A	18.37:g.31324446C>A	ENSP00000269197:p.Ala1545Glu	823	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	4.578	0.107306	0.08780	.	.	ENSG00000141431	ENST00000269197	T	0.15718	2.4	6.17	2.46	0.29980	.	.	.	.	.	T	0.09202	0.0227	N	0.24115	0.695	0.09310	N	1	P	0.45902	0.868	B	0.33392	0.163	T	0.17379	-1.0371	9	0.54805	T	0.06	.	7.9588	0.30060	0.0:0.6939:0.1166:0.1894	.	1545	Q9C0F0	ASXL3_HUMAN	E	1545	ENSP00000269197:A1545E	ENSP00000269197:A1545E	A	+	2	0	ASXL3	29578444	0.019000	0.18553	0.020000	0.16555	0.010000	0.07245	1.317000	0.33631	0.491000	0.27793	-0.140000	0.14226	GCA		0.502	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			A	31324446	C	A	31324446	3	1	152	1	0	0	0	0	1	0	0	0	1068	710	25	4	4680	4	ASXL3	18	31324446	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10		31324446	46752802	85	9055											
CXXC1	30827	hgsc.bcm.edu	37	18	47810394	47810394	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr18:47810394T>A	ENST00000285106.6	-	10	1997	c.1283A>T	c.(1282-1284)aAg>aTg	p.K428M	MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.K428M|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.K432M|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000424334.2_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	428					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TTCGAGCAGCTTCTTGCCGTG	0.592																																																0													75	69	71					18																	47810394		2203	4300	6503	SO:0001583	missense	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1283A>T	18.37:g.47810394T>A	ENSP00000285106:p.Lys428Met		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816555	0.70912	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.26518	1.73;1.73	4.63	4.63	0.57726	CpG binding protein, C-terminal (1);	0.000000	0.85682	U	0.000000	T	0.43523	0.1251	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;1.0	D;D;D;D	0.79784	0.992;0.93;0.958;0.993	T	0.37244	-0.9714	10	0.72032	D	0.01	-27.2817	12.2813	0.54765	0.0:0.0:0.0:1.0	.	428;432;428;295	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	M	428;432	ENSP00000285106:K428M;ENSP00000390475:K432M	ENSP00000285106:K428M	K	-	2	0	CXXC1	46064392	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	5.565000	0.67365	1.849000	0.53698	0.372000	0.22366	AAG		0.592	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		A	47810394	T	A	47810394	3	1	152	1	0	0	0	0	1	0	0	0	4099	1609	56	5	711	5	CXXC1	18	47810394	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10	16485948	47810394	30266854	86	9056											
LONP1	25873	hgsc.bcm.edu	37	19	5693589	5693589	+	IGR	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr19:5693589A>T	ENST00000577222.1	+	0	874				LONP1_ENST00000590729.1_Missense_Mutation_p.S708T|LONP1_ENST00000585374.1_Missense_Mutation_p.S724T|LONP1_ENST00000360614.3_Missense_Mutation_p.S838T|LONP1_ENST00000540670.2_Missense_Mutation_p.S642T|LONP1_ENST00000593119.1_Missense_Mutation_p.S774T			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						TGGATGTGTGAGGTCACCAGG	0.662																																																0													145	111	122					19																	5693589		2203	4300	6503	SO:0001628	intergenic_variant	9361				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5693589A>T			B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815716	0.50527	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.29142	1.58;1.58	4.48	4.48	0.54585	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.139328	0.50627	D	0.000118	T	0.22282	0.0537	L	0.31294	0.92	0.42035	D	0.991041	B;B;B	0.30193	0.272;0.037;0.114	B;B;B	0.28232	0.087;0.061;0.087	T	0.06144	-1.0843	10	0.36615	T	0.2	-11.0707	11.7256	0.51708	1.0:0.0:0.0:0.0	.	838;774;838	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	T	838;802;642	ENSP00000353826:S838T;ENSP00000441523:S642T	ENSP00000351177:S802T	S	-	1	0	LONP1	5644589	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	5.411000	0.66386	1.641000	0.50575	0.448000	0.29417	TCA		0.662	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		T	5693589	A	T	5693589	1	4	152	0	1	0	0	0	0	0	0	0	8894	304	11	5		5	LONP1	19	5693589	IGR	SNP	A	TCGA-B0-4828-01A-01D-1361-10		5693589	53435394	87	9057											
OR7G3	390883	hgsc.bcm.edu;ucsc.edu	37	19	9237030	9237030	+	Silent	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr19:9237030C>A	ENST00000305444.2	-	1	596	c.597G>T	c.(595-597)gtG>gtT	p.V199V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCACCAAATACACCAGGATGT	0.443																																																0													72	72	72					19																	9237030		2203	4300	6503	SO:0001819	synonymous_variant	390883				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.597G>T	19.37:g.9237030C>A			Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	CCDS32899.1																																																																																				0.443	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			A	9237030	C	A	9237030	2	1	152	1	0	0	0	0	0	0	0	1	11226	465	17	4		4	OR7G3	19	9237030	Silent	SNP	C	TCGA-B0-4828-01A-01D-1361-10	3543441	9237030	49891953	88	9058											
NTN5	126147	hgsc.bcm.edu	37	19	49167834	49167834	+	Splice_Site	SNP	A	A	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr19:49167834A>G	ENST00000270235.4	-	3	916		c.e3+1		SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GGCCACACTCACCTCTGCAGG	0.677																																																0													28	25	26					19																	49167834		2202	4300	6502	SO:0001630	splice_region_variant	126147				CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.820+1T>C	19.37:g.49167834A>G			Q8N4X9|Q8WU63	Splice_Site	SNP	ENST00000270235.4	37	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113659	0.56398	.	.	ENSG00000142233	ENST00000270235	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2273	0.59922	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NTN5	53859646	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	7.007000	0.76335	2.093000	0.63338	0.454000	0.30748	.		0.677	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807	Intron	G	49167834	A	G	49167834	5	3	152	1	0	0	0	0	0	0	1	0	10705	173	6	3	667	3	NTN5	19	49167834	Splice_Site	SNP	A	TCGA-B0-4828-01A-01D-1361-10	39930804	49167834	9961149	89	9059											
MYH14	79784	hgsc.bcm.edu	37	19	50762505	50762505	+	Silent	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr19:50762505C>T	ENST00000596571.1	+	16	2214	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	MYH14_ENST00000440075.2_Silent_p.F779F|MYH14_ENST00000262269.8_Silent_p.F779F|MYH14_ENST00000425460.1_Silent_p.F746F|MYH14_ENST00000376970.2_Silent_p.F771F|MYH14_ENST00000601313.1_Silent_p.F779F|MYH14_ENST00000598205.1_Silent_p.F746F			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	738	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCATCCTCTTCCAGGAGTTCC	0.682																																																0													13	16	15					19																	50762505		2176	4281	6457	SO:0001819	synonymous_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2214C>T	19.37:g.50762505C>T			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																				0.682	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		T	50762505	C	T	50762505	2	4	152	1	0	0	0	0	0	0	0	1	10035	854	30	2		2	MYH14	19	50762505	Silent	SNP	C	TCGA-B0-4828-01A-01D-1361-10	1594671	50762505	8366478	90	9060											
ZNF587	84914	hgsc.bcm.edu	37	19	58370298	58370298	+	Missense_Mutation	SNP	G	G	A	rs144186084	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr19:58370298G>A	ENST00000339656.5	+	3	700	c.518G>A	c.(517-519)cGc>cAc	p.R173H	ZNF587_ENST00000423137.1_Missense_Mutation_p.R172H|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000595295.1_Silent_p.R30R|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.R130H	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TTTGTCTTCCGCGAGTTTGGG	0.473																																					Pancreas(59;641 1233 1885 20055 50741)											0													95	86	89					19																	58370298		2189	4289	6478	SO:0001583	missense	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.518G>A	19.37:g.58370298G>A	ENSP00000345479:p.Arg173His		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.906134	0.00512	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.07114	3.35;3.34;3.22	1.4	-2.8	0.05823	.	.	.	.	.	T	0.04952	0.0133	N	0.20483	0.58	0.21984	N	0.999437	B;B	0.12630	0.006;0.0	B;B	0.11329	0.006;0.0	T	0.32214	-0.9915	8	0.40728	T	0.16	.	6.7746	0.23613	0.6235:0.0:0.3765:0.0	.	172;173	G3V0H5;Q96SQ5	.;ZN587_HUMAN	H	130;172;173;173;130	ENSP00000393865:R172H;ENSP00000345479:R173H;ENSP00000406999:R130H	ENSP00000345479:R173H	R	+	2	0	ZNF587	63062110	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.323000	0.07997	-1.917000	0.01074	-2.766000	0.00121	CGC		0.473	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		A	58370298	G	A	58370298	3	1	152	1	0	0	0	0	1	0	0	0	18025	1087	38	1	528	1	ZNF587	19	58370298	Missense_Mutation	SNP	G	TCGA-B0-4828-01A-01D-1361-10	7607793	58370298	758685	91	9061											
C20orf107	388799	hgsc.bcm.edu	37	20	55108625	55108625	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr20:55108625A>C	ENST00000371325.1	+	1	324	c.228A>C	c.(226-228)caA>caC	p.Q76H		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	76						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TGCAGTGTCAAAGAGACAGTG	0.463																																																0													139	127	131					20																	55108625		2203	4300	6503	SO:0001583	missense	0			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 107"	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.228A>C	20.37:g.55108625A>C	ENSP00000360376:p.Gln76His		Q3KRB5	Missense_Mutation	SNP	ENST00000371325.1	37	CCDS33494.1	.	.	.	.	.	.	.	.	.	.	A	5.128	0.209258	0.09757	.	.	ENSG00000213714	ENST00000371325	T	0.08720	3.06	2.8	1.67	0.24075	.	0.400794	0.18456	N	0.140688	T	0.05960	0.0155	L	0.36672	1.1	0.09310	N	1	P	0.36944	0.574	B	0.34931	0.192	T	0.31110	-0.9955	10	0.44086	T	0.13	-9.3987	4.5392	0.12049	0.8356:0.0:0.1644:0.0	.	76	Q5JX69	CT107_HUMAN	H	76	ENSP00000360376:Q76H	ENSP00000360376:Q76H	Q	+	3	2	C20orf107	54542032	1.000000	0.71417	0.050000	0.19076	0.059000	0.15707	1.275000	0.33144	0.297000	0.22615	0.323000	0.21402	CAA		0.463	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			C	55108625	A	C	55108625	3	2	152	1	0	0	0	0	1	0	0	0	2079	11	1	5	230	5	C20orf107	20	55108625	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10		55108625	7916895	92	9062											
IFNGR2	3460	hgsc.bcm.edu	37	21	34809269	34809269	+	Nonstop_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr21:34809269A>T	ENST00000290219.6	+	7	1662	c.1014A>T	c.(1012-1014)tgA>tgT	p.*338C	TMEM50B_ENST00000468874.2_5'UTR|IFNGR2_ENST00000405436.1_Nonstop_Mutation_p.*259C|IFNGR2_ENST00000381995.1_Nonstop_Mutation_p.*357C	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	0					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	AAACGCTTTGAACCAAAGCAT	0.507																																																0													86	72	76					21																	34809269		2203	4300	6503	SO:0001578	stop_lost	3460				CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.1014A>T	21.37:g.34809269A>T	ENSP00000290219:p.*338Cysext*6		Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904242	0.33628	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	.	.	.	4.67	0.764	0.18465	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0616	0.14560	0.5385:0.3642:0.0973:0.0	.	.	.	.	C	338;357;259	.	.	X	+	3	0	IFNGR2	33731139	0.030000	0.19436	0.001000	0.08648	0.118000	0.20060	0.909000	0.28558	0.040000	0.15660	0.460000	0.39030	TGA		0.507	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			T	34809269	A	T	34809269	4	4	152	1	0	0	0	0	0	0	0	0	7552	259	9	5	1040	5	IFNGR2	21	34809269	Nonstop_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10		34809269	13320626	93	9063											
COL6A1	1291	hgsc.bcm.edu	37	21	47422537	47422537	+	Silent	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr21:47422537C>A	ENST00000361866.3	+	33	2461	c.2347C>A	c.(2347-2349)Cgg>Agg	p.R783R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	783	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)	p.R783G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		ATCCCAGGGCCGGCCCGGCCT	0.587																																																1	Substitution - Missense(1)	ovary(1)											93	87	89					21																	47422537		2202	4300	6502	SO:0001819	synonymous_variant	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2347C>A	21.37:g.47422537C>A			O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	CCDS13727.1																																																																																				0.587	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		A	47422537	C	A	47422537	2	1	152	1	0	0	0	0	0	0	0	1	3701	643	23	4		4	COL6A1	21	47422537	Silent	SNP	C	TCGA-B0-4828-01A-01D-1361-10	12613268	47422537	707358	94	9064											
TOB2	10766	hgsc.bcm.edu	37	22	41832415	41832415	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr22:41832415A>T	ENST00000327492.3	-	2	1641	c.935T>A	c.(934-936)cTc>cAc	p.L312H		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	312				QGSGTPGPFGGSGAGTCNSSSFDMAQVFGGGANSLFLEKT -> RAAAPQARLEAVGLAPATAAALTWPRYLEVVPTASSWR RH (in Ref. 1; BAA10971). {ECO:0000305}.	female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCCAGGAAGAGGCTGTTGGC	0.607																																																0													82	79	80					22																	41832415		2203	4300	6503	SO:0001583	missense	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.935T>A	22.37:g.41832415A>T	ENSP00000331305:p.Leu312His		Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.494393	0.64186	.	.	ENSG00000183864	ENST00000327492	T	0.46063	0.88	6.17	6.17	0.99709	.	0.213898	0.40818	N	0.001002	T	0.48786	0.1519	L	0.47716	1.5	0.36066	D	0.841793	D	0.56035	0.974	P	0.51355	0.667	T	0.53892	-0.8374	10	0.31617	T	0.26	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	312	Q14106	TOB2_HUMAN	H	312	ENSP00000331305:L312H	ENSP00000331305:L312H	L	-	2	0	TOB2	40162361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.710000	0.61873	2.371000	0.80710	0.533000	0.62120	CTC		0.607	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		T	41832415	A	T	41832415	3	4	152	1	0	0	0	0	1	0	0	0	16353	304	11	5	103	5	TOB2	22	41832415	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10		41832415	9472151	95	9065											
POLDIP3	84271	hgsc.bcm.edu	37	22	42988071	42988071	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr22:42988071C>A	ENST00000252115.5	-	7	1015	c.911G>T	c.(910-912)gGg>gTg	p.G304V	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.G275V|POLDIP3_ENST00000451060.2_Missense_Mutation_p.G148V	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	304	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CTTGAGGGCCCCACACACACA	0.557																																					Ovarian(52;967 1128 5875 19997 42537)											0													137	125	129					22																	42988071		2203	4300	6503	SO:0001583	missense	84271				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"RNA binding motif (RRM) containing"	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.911G>T	22.37:g.42988071C>A	ENSP00000252115:p.Gly304Val		A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554167	0.86231	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000451060	T;T;T	0.47177	0.85;0.85;0.85	6.08	5.06	0.68205	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048576	0.85682	D	0.000000	T	0.77315	0.4112	H	0.94886	3.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84657	0.0704	10	0.87932	D	0	-11.6658	15.4398	0.75173	0.0:0.9337:0.0:0.0663	.	321;300;275;304	B4E0L0;Q96DI9;Q9BY77-2;Q9BY77	.;.;.;PDIP3_HUMAN	V	275;304;148	ENSP00000252116:G275V;ENSP00000252115:G304V;ENSP00000397927:G148V	ENSP00000252115:G304V	G	-	2	0	POLDIP3	41318015	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.398000	0.79919	1.591000	0.50007	-0.140000	0.14226	GGG		0.557	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		A	42988071	C	A	42988071	3	1	152	1	0	0	0	0	1	0	0	0	12197	623	22	4	366	4	POLDIP3	22	42988071	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	1155656	42988071	8316495	96	9066											
USP11	8237	hgsc.bcm.edu	37	X	47100845	47100845	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:47100845T>A	ENST00000218348.3	+	8	1145	c.1145T>A	c.(1144-1146)tTc>tAc	p.F382Y	USP11_ENST00000377107.2_Missense_Mutation_p.F339Y	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	382	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCACATGTGTTCAAGGTGTGA	0.587																																																0													111	82	92					X																	47100845		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1145T>A	X.37:g.47100845T>A	ENSP00000218348:p.Phe382Tyr		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420742	0.83559	.	.	ENSG00000102226	ENST00000377107;ENST00000218348;ENST00000377078	T;T;T	0.37411	1.2;1.2;1.2	5.11	5.11	0.69529	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	M	0.89214	3.015	0.54753	D	0.999985	B;D	0.67145	0.1;0.996	P;D	0.63957	0.685;0.92	T	0.70934	-0.4737	10	0.72032	D	0.01	-20.4083	12.9578	0.58441	0.0:0.0:0.0:1.0	.	109;382	B3KP28;P51784	.;UBP11_HUMAN	Y	339;382;109	ENSP00000366311:F339Y;ENSP00000218348:F382Y;ENSP00000366279:F109Y	ENSP00000218348:F382Y	F	+	2	0	USP11	46985789	1.000000	0.71417	0.997000	0.53966	0.710000	0.40934	7.967000	0.87967	1.700000	0.51204	0.486000	0.48141	TTC		0.587	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		A	47100845	T	A	47100845	3	1	152	1	0	0	0	0	1	0	0	0	17047	1783	62	5	1175	5	USP11	23	47100845	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10		47100845	108169715	97	9067											
GPR173	54328	hgsc.bcm.edu	37	X	53106303	53106303	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:53106303T>G	ENST00000332582.4	+	2	991	c.500T>G	c.(499-501)tTt>tGt	p.F167C		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	167					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						ACCTACAAGTTTATTCGGGAG	0.562																																																0													56	49	51					X																	53106303		2203	4300	6503	SO:0001583	missense	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.500T>G	X.37:g.53106303T>G	ENSP00000331600:p.Phe167Cys		B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607801	0.46527	.	.	ENSG00000184194	ENST00000332582	T	0.38077	1.16	4.17	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.72118	2.19	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.48614	-0.9020	10	0.51188	T	0.08	-3.6789	7.0784	0.25217	0.0:0.1124:0.0:0.8876	.	167	Q9NS66	GP173_HUMAN	C	167	ENSP00000331600:F167C	ENSP00000331600:F167C	F	+	2	0	GPR173	53123028	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.868000	0.87116	0.502000	0.28037	0.430000	0.28490	TTT		0.562	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		G	53106303	T	G	53106303	3	3	152	1	0	0	0	0	1	0	0	0	6673	1841	64	5	502	5	GPR173	23	53106303	Missense_Mutation	SNP	T	TCGA-B0-4828-01A-01D-1361-10	6005458	53106303	102164257	98	9068											
KDM5C	8242	hgsc.bcm.edu	37	X	53245090	53245090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:53245090C>A	ENST00000375401.3	-	7	1382	c.850G>T	c.(850-852)Gag>Tag	p.E284*	KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E284*|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.E217*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E243*|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E283*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	284					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GATGTTGACTCCACCTTCACA	0.552			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													203	149	168					X																	53245090		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.850G>T	X.37:g.53245090C>A	ENSP00000364550:p.Glu284*		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	39	7.519673	0.98335	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	5.18	5.18	0.71444	.	0.224235	0.44902	D	0.000416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-7.7864	13.0906	0.59166	0.0:1.0:0.0:0.0	.	.	.	.	X	217;284;283;284;243	.	ENSP00000364528:E284X	E	-	1	0	KDM5C	53261815	0.997000	0.39634	0.998000	0.56505	0.380000	0.30137	3.442000	0.52900	2.149000	0.67028	0.483000	0.47432	GAG		0.552	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53245090	C	A	53245090	4	1	152	1	0	0	0	0	0	1	0	0	8137	864	30	4	4010	4	KDM5C	23	53245090	Nonsense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	138787	53245090	102025470	99	9069											
KIF4A	24137	hgsc.bcm.edu	37	X	69637742	69637742	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:69637742C>T	ENST00000374403.3	+	29	3342	c.3260C>T	c.(3259-3261)tCc>tTc	p.S1087F		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1087	Globular.|Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGCAGTGTTCCTGCAAGGGC	0.453																																																0													108	82	91					X																	69637742		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.3260C>T	X.37:g.69637742C>T	ENSP00000363524:p.Ser1087Phe		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	c	12.95	2.092685	0.36952	.	.	ENSG00000090889	ENST00000374403;ENST00000544650	D	0.90261	-2.64	5.24	5.24	0.73138	.	0.253914	0.31335	N	0.007835	D	0.83294	0.5223	L	0.31294	0.92	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.77070	-0.2724	9	.	.	.	.	10.7125	0.45993	0.0:0.9073:0.0:0.0927	.	1087	O95239	KIF4A_HUMAN	F	1087;389	ENSP00000363524:S1087F	.	S	+	2	0	KIF4A	69554467	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.247000	0.43151	2.440000	0.82611	0.479000	0.44913	TCC		0.453	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		T	69637742	C	T	69637742	3	4	152	1	0	0	0	0	1	0	0	0	8305	855	30	2	3370	2	KIF4A	23	69637742	Missense_Mutation	SNP	C	TCGA-B0-4828-01A-01D-1361-10	16392652	69637742	85632818	100	9070											
BRWD3	254065	hgsc.bcm.edu;ucsc.edu	37	X	79939596	79939596	+	Silent	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:79939596T>C	ENST00000373275.4	-	37	4362	c.4146A>G	c.(4144-4146)ggA>ggG	p.G1382G	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1382	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TACCATAGTTTCCTGCTTCCA	0.338																																																0													80	75	77					X																	79939596		2203	4298	6501	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4146A>G	X.37:g.79939596T>C			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	CCDS14447.1																																																																																				0.338	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		C	79939596	T	C	79939596	2	2	152	1	0	0	0	0	0	0	0	1	1528	1770	62	3		3	BRWD3	23	79939596	Silent	SNP	T	TCGA-B0-4828-01A-01D-1361-10	10301854	79939596	75330964	101	9071											
SLC6A8	6535	hgsc.bcm.edu	37	X	152957540	152957540	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:152957540A>G	ENST00000253122.5	+	4	1231	c.755A>G	c.(754-756)aAg>aGg	p.K252R	SLC6A8_ENST00000430077.2_Missense_Mutation_p.K137R	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	252					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TGTGTCTGGAAGGGGGTCAAA	0.627																																																0													58	39	45					X																	152957540		2201	4300	6501	SO:0001583	missense	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.755A>G	X.37:g.152957540A>G	ENSP00000253122:p.Lys252Arg		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	a	24.0	4.483372	0.84854	.	.	ENSG00000130821	ENST00000253122;ENST00000430077	T;T	0.79653	-1.29;-1.29	4.09	4.09	0.47781	.	.	.	.	.	D	0.83376	0.5241	M	0.64567	1.98	0.58432	D	0.999999	P;P;B	0.46327	0.471;0.876;0.388	P;P;B	0.52554	0.51;0.702;0.439	D	0.84935	0.0862	9	0.87932	D	0	.	11.3446	0.49552	1.0:0.0:0.0:0.0	.	252;271;252	D3DWV2;Q59EV7;P48029	.;.;SC6A8_HUMAN	R	252;137	ENSP00000253122:K252R;ENSP00000403041:K137R	ENSP00000253122:K252R	K	+	2	0	SLC6A8	152610734	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	9.076000	0.94009	1.511000	0.48818	0.430000	0.28490	AAG		0.627	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			G	152957540	A	G	152957540	3	3	152	1	0	0	0	0	1	0	0	0	14696	72	3	3	769	3	SLC6A8	23	152957540	Missense_Mutation	SNP	A	TCGA-B0-4828-01A-01D-1361-10	73017944	152957540	2313020	102	9072											
VHL	7428	hgsc.bcm.edu	37	3	10183749	10183750	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4833-01A-01W-1369-10	TCGA-B0-4833-11A-01W-1369-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	af3730c7-3843-41a1-ab79-9a4ad490f44f	a66c6d9c-b480-4268-882f-f99d7ff875b9	g.chr3:10183749_10183750insG	ENST00000256474.2	+	1	1058_1059	c.218_219insG	c.(217-222)caggtcfs	p.V74fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.V74fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	74			V -> G (in VHLD; type I-II; dbSNP:rs5030803). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q73fs*86(2)|p.V74fs*85(2)|p.E70fs*85(1)|p.S72_V87>L(1)|p.Q73Q(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.P71fs*56(1)|p.V74fs*58(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GAGCCCTCCCAGGTCATCTTCT	0.723		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	13	Deletion - Frameshift(9)|Substitution - coding silent(1)|Complex - deletion inframe(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(11)|endometrium(1)|soft_tissue(1)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.220dupG	3.37:g.10183751_10183751dupG	ENSP00000256474:p.Val74fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.723	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183750	-	G	10183749	7	5	153	1	0	1	1	0	0	0	0	0	17167	188	7	0	220	0	VHL	3	10183749	Frame_Shift_Ins	INS	-	TCGA-B0-4833-01A-01W-1369-10		10183749	187838681	1	9073											
CHD5	26038	hgsc.bcm.edu;ucsc.edu	37	1	6228284	6228284	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr1:6228284C>T	ENST00000262450.3	-	2	232	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	CHD5_ENST00000378021.1_De_novo_Start_InFrame	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0	Interaction with ASNA1/TRC40.				tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V45M(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAAGGCTCACGGGCTCCACA	0.512																																																1	Substitution - Missense(1)	breast(1)											165	166	166					1																	6228284		2203	4300	6503	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.133G>A	1.37:g.6228284C>T	ENSP00000262450:p.Val45Met		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873609	0.51695	.	.	ENSG00000116254	ENST00000262450	D	0.90504	-2.68	4.9	0.667	0.17907	.	0.437881	0.14928	U	0.290260	D	0.83138	0.5189	L	0.40543	1.245	0.53688	D	0.999976	B	0.21071	0.051	B	0.14023	0.01	T	0.72734	-0.4204	10	0.46703	T	0.11	-16.9959	5.2688	0.15613	0.0:0.491:0.3251:0.1839	.	45	Q8TDI0	CHD5_HUMAN	M	45	ENSP00000262450:V45M	ENSP00000262450:V45M	V	-	1	0	CHD5	6150871	0.059000	0.20769	0.800000	0.32199	0.934000	0.57294	0.075000	0.14686	0.076000	0.16826	0.313000	0.20887	GTG		0.512	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		T	6228284	C	T	6228284	3	4	154	1	0	0	0	0	1	0	0	0	3330	536	19	1	5891	1	CHD5	1	6228284	Missense_Mutation	SNP	C	TCGA-B0-4836-01A-01D-1373-10		6228284	243022337	1	9074											
RTCD1	8634	hgsc.bcm.edu;ucsc.edu	37	1	100741273	100741273	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr1:100741273G>A	ENST00000370128.4	+	7	903	c.734G>A	c.(733-735)gGa>gAa	p.G245E	RTCA_ENST00000260563.4_Missense_Mutation_p.G258E	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	245					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										AATGGAAATGGAATAATGTGA	0.353																																																0													92	95	94					1																	100741273		2203	4300	6503	SO:0001583	missense	0			Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"RTC domain containing 1", "RNA terminal phosphate cyclase domain 1"	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.734G>A	1.37:g.100741273G>A	ENSP00000359146:p.Gly245Glu		Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	CCDS768.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473387	0.84640	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.23	5.23	0.72850	-terminal phosphate cyclase, subset, insert domain (2);-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase domain (1);RNA 3&apos (5);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	M	0.85542	2.76	0.80722	D	1	D;D	0.63046	0.99;0.992	D;D	0.70016	0.962;0.967	D	0.84711	0.0734	9	0.87932	D	0	-5.0086	18.8312	0.92141	0.0:0.0:1.0:0.0	.	258;245	O00442-2;O00442	.;RTC1_HUMAN	E	245;258	.	ENSP00000260563:G258E	G	+	2	0	RTCD1	100513861	1.000000	0.71417	0.996000	0.52242	0.759000	0.43091	9.209000	0.95087	2.453000	0.82957	0.655000	0.94253	GGA		0.353	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2			A	100741273	G	A	100741273	3	1	154	1	0	0	0	0	1	0	0	0	13724	1174	41	2	803	2	RTCD1	1	100741273	Missense_Mutation	SNP	G	TCGA-B0-4836-01A-01D-1373-10	94512989	100741273	148509348	2	9075											
SLC22A15	55356	hgsc.bcm.edu	37	1	116534699	116534699	+	Silent	SNP	G	G	C			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr1:116534699G>C	ENST00000369503.4	+	2	265	c.135G>C	c.(133-135)acG>acC	p.T45T	SLC22A15_ENST00000369502.1_Silent_p.T45T	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	45					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTGGGGCCACGCCATCCTACC	0.557																																																0													40	42	42					1																	116534699		2038	4189	6227	SO:0001819	synonymous_variant	55356			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.135G>C	1.37:g.116534699G>C			A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Silent	SNP	ENST00000369503.4	37	CCDS44198.1																																																																																				0.557	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		C	116534699	G	C	116534699	2	2	154	1	0	0	0	0	0	0	0	1	14452	1074	38	4		4	SLC22A15	1	116534699	Silent	SNP	G	TCGA-B0-4836-01A-01D-1373-10	15793426	116534699	132715922	3	9076											
MAT2A	4144	hgsc.bcm.edu;ucsc.edu	37	2	85769804	85769804	+	Silent	SNP	T	T	C			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr2:85769804T>C	ENST00000306434.3	+	7	1008	c.885T>C	c.(883-885)gcT>gcC	p.A295A	MAT2A_ENST00000409017.1_Silent_p.A232A	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	295					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTTCAGCTGCTTATGCTGCTC	0.473																																																0													132	133	133					2																	85769804		2203	4300	6503	SO:0001819	synonymous_variant	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.885T>C	2.37:g.85769804T>C			A8K511|B4DN45|D6W5L1|Q53SP5	Silent	SNP	ENST00000306434.3	37	CCDS1977.1																																																																																				0.473	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		C	85769804	T	C	85769804	2	2	154	1	0	0	0	0	0	0	0	1	9332	1596	56	3		3	MAT2A	2	85769804	Silent	SNP	T	TCGA-B0-4836-01A-01D-1373-10		85769804	157429569	4	9077											
SNED1	25992	hgsc.bcm.edu	37	2	241991875	241991875	+	Silent	SNP	G	G	A	rs57214830	byFrequency	TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr2:241991875G>A	ENST00000310397.8	+	15	2073	c.2073G>A	c.(2071-2073)cgG>cgA	p.R691R	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Silent_p.R691R|SNED1_ENST00000342631.6_Silent_p.R691R|SNED1_ENST00000405547.3_Silent_p.R691R	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	691	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGGGACGCCGGTGCCAGGCAG	0.637													G|||	1286	0.256789	0.2126	0.245	5008	,	,		17592	0.4067		0.1928	False		,,,				2504	0.2362															0								G		800,3316		93,614,1351	43	49	47		2073	2.2	1	2	dbSNP_129	47	1433,6939		134,1165,2887	yes	coding-synonymous	SNED1	NM_001080437.1		227,1779,4238	AA,AG,GG		17.1166,19.4363,17.8812		691/1414	241991875	2233,10255	2058	4186	6244	SO:0001819	synonymous_variant	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2073G>A	2.37:g.241991875G>A			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1																																																																																				0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		A	241991875	G	A	241991875	2	1	154	1	0	0	0	0	0	0	0	1	14851	1248	44	2		2	SNED1	2	241991875	Silent	SNP	G	TCGA-B0-4836-01A-01D-1373-10	156222071	241991875	1207498	5	9078											
DLEC1	9940	hgsc.bcm.edu	37	3	38139284	38139284	+	Missense_Mutation	SNP	G	G	C	rs183009787|rs34757481		TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr3:38139284G>C	ENST00000308059.6	+	18	2636	c.2615G>C	c.(2614-2616)cGc>cCc	p.R872P	DLEC1_ENST00000452631.2_Missense_Mutation_p.R872P|DLEC1_ENST00000346219.3_Missense_Mutation_p.R872P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGTCTGCTCCGCCTGGGGCAG	0.617																																																0													63	70	68					3																	38139284		2109	4214	6323	SO:0001583	missense	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2615G>C	3.37:g.38139284G>C	ENSP00000308597:p.Arg872Pro			Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999286	0.74818	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05258	3.48;3.47;3.71	5.16	4.28	0.50868	.	0.182425	0.36268	N	0.002686	T	0.15955	0.0384	M	0.71581	2.175	0.32399	N	0.55217	D;D;D	0.71674	0.996;0.998;0.996	P;P;P	0.61132	0.844;0.884;0.844	T	0.12630	-1.0540	10	0.30854	T	0.27	-17.4076	6.6353	0.22879	0.0911:0.0:0.7292:0.1798	.	872;872;872	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	P	872	ENSP00000308597:R872P;ENSP00000315914:R872P;ENSP00000410427:R872P	ENSP00000308597:R872P	R	+	2	0	DLEC1	38114288	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	2.503000	0.45407	1.153000	0.42468	0.462000	0.41574	CGC		0.617	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		C	38139284	G	C	38139284	3	2	154	1	0	0	0	0	1	0	0	0	4554	1087	38	4	2685	4	DLEC1	3	38139284	Missense_Mutation	SNP	G	TCGA-B0-4836-01A-01D-1373-10		38139284	159883146	6	9079											
KBTBD12	166348	hgsc.bcm.edu;ucsc.edu	37	3	127642834	127642834	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr3:127642834C>G	ENST00000405109.1	+	2	1397	c.930C>G	c.(928-930)ttC>ttG	p.F310L	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.F310L			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	310										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AAACCTATTTCATCTCATCTC	0.418																																																0													131	126	128					3																	127642834		1920	4112	6032	SO:0001583	missense	166348				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.930C>G	3.37:g.127642834C>G	ENSP00000385957:p.Phe310Leu		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444706	0.25987	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.64803	-0.12;-0.12	5.62	2.1	0.27182	Kelch-type beta propeller (1);	.	.	.	.	T	0.48059	0.1479	L	0.59436	1.845	0.34694	D	0.726063	P	0.44006	0.824	B	0.34418	0.182	T	0.54569	-0.8274	9	0.11485	T	0.65	.	9.5693	0.39418	0.0:0.7231:0.0:0.2769	.	310	Q3ZCT8	KBTBC_HUMAN	L	310	ENSP00000385957:F310L;ENSP00000385879:F310L	ENSP00000385957:F310L	F	+	3	2	KBTBD12	129125524	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	2.297000	0.43593	0.153000	0.19213	0.585000	0.79938	TTC		0.418	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		G	127642834	C	G	127642834	3	3	154	1	0	0	0	0	1	0	0	0	7993	825	29	4	932	4	KBTBD12	3	127642834	Missense_Mutation	SNP	C	TCGA-B0-4836-01A-01D-1373-10	89503550	127642834	70379596	7	9080											
NAA15	80155	hgsc.bcm.edu;ucsc.edu	37	4	140282956	140282956	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr4:140282956G>A	ENST00000296543.5	+	14	1941	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N	NAA15_ENST00000398947.1_Missense_Mutation_p.D540N	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	540	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATCATATGTGGACTTATTAAA	0.333																																																0													81	76	77					4																	140282956		1857	4087	5944	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1618G>A	4.37:g.140282956G>A	ENSP00000296543:p.Asp540Asn		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066568	0.76187	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.46819	0.86;0.86	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.61218	1.895	0.80722	D	1	B	0.20459	0.045	B	0.27608	0.081	T	0.41360	-0.9513	10	0.33141	T	0.24	-16.3388	20.5666	0.99351	0.0:0.0:1.0:0.0	.	540	Q9BXJ9	NAA15_HUMAN	N	540;414;540	ENSP00000296543:D540N;ENSP00000381920:D540N	ENSP00000296543:D540N	D	+	1	0	NAA15	140502406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.854000	0.98071	0.655000	0.94253	GAC		0.333	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		A	140282956	G	A	140282956	3	1	154	1	0	0	0	0	1	0	0	0	10120	1174	41	2	1672	2	NAA15	4	140282956	Missense_Mutation	SNP	G	TCGA-B0-4836-01A-01D-1373-10		140282956	50871320	8	9081											
RAPGEF6	51735	hgsc.bcm.edu	37	5	130815212	130815212	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr5:130815212A>G	ENST00000509018.1	-	16	2280	c.2075T>C	c.(2074-2076)cTa>cCa	p.L692P	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.L692P|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.L407P|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.L692P|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.L692P|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.L692P|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.L742P|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.L692P	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	692					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTACCTAAATAGCTTTGGAGG	0.373																																					Melanoma(168;435 1955 13113 13877 23213)											0													98	94	95					5																	130815212		2203	4300	6503	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2075T>C	5.37:g.130815212A>G	ENSP00000421684:p.Leu692Pro		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047371	0.36085	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.26373	1.99;1.89;1.89;1.99;1.74;1.75;2.26;2.08	5.91	4.74	0.60224	Ras guanine nucleotide exchange factor, domain (1);	0.157587	0.43110	D	0.000618	T	0.12689	0.0308	N	0.05554	-0.025	0.80722	D	1	B;B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.001;0.001;0.002;0.001	B;B;B;B;B;B;B	0.12837	0.003;0.002;0.008;0.003;0.003;0.008;0.002	T	0.10428	-1.0630	10	0.26408	T	0.33	.	9.1515	0.36967	0.8608:0.0:0.1392:0.0	.	692;692;692;407;742;692;692	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	P	692;692;692;692;692;407;692;692;742	ENSP00000421684:L692P;ENSP00000309298:L692P;ENSP00000426081:L692P;ENSP00000296859:L692P;ENSP00000426910:L407P;ENSP00000311419:L692P;ENSP00000425389:L692P;ENSP00000426948:L742P	ENSP00000426948:L742P	L	-	2	0	RAPGEF6;FNIP1	130843111	1.000000	0.71417	0.391000	0.26233	0.976000	0.68499	5.385000	0.66231	1.052000	0.40392	0.533000	0.62120	CTA		0.373	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		G	130815212	A	G	130815212	3	3	154	1	0	0	0	0	1	0	0	0	13054	420	15	3	3268	3	RAPGEF6	5	130815212	Missense_Mutation	SNP	A	TCGA-B0-4836-01A-01D-1373-10		130815212	50100048	9	9082											
FAM153C	653316	hgsc.bcm.edu	37	5	177473898	177473899	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr5:177473898_177473899delCT	ENST00000507848.1	+	10	500_501	c.299_300delCT	c.(298-300)cctfs	p.P100fs	FAM153C_ENST00000398106.2_Frame_Shift_Del_p.P100fs|FAM153C_ENST00000511189.1_Frame_Shift_Del_p.P129fs			Q494X1	F153C_HUMAN	family with sequence similarity 153, member C	100										kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTCTGCACCTGCAGAAGAAG	0.52																																																0																																										SO:0001589	frameshift_variant	653316			BC101338		5q35.3	2008-01-09				ENSG00000204677			33936	protein-coding gene	gene with protein product							Standard	NR_038353		Approved	NY-REN-7-like	uc011dge.2	Q494X1		ENST00000507848.1:c.299_300delCT	5.37:g.177473898_177473899delCT	ENSP00000424623:p.Pro100fs		A4IF33|B2RUV5|B7ZW12	Frame_Shift_Del	DEL	ENST00000507848.1	37																																																																																					0.52	FAM153C-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000373556.1	NM_001079527		-	177473899	CT	-	177473898	7	5	154	1	0	1	0	1	0	0	0	0	5464	681	24	0	329	0	FAM153C	5	177473898	Frame_Shift_Del	DEL	CT	TCGA-B0-4836-01A-01D-1373-10	46658686	177473898	3441362	10	9083											
KIAA0240	23506	hgsc.bcm.edu;ucsc.edu	37	6	42832830	42832830	+	Silent	SNP	G	G	T	rs140608307		TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr6:42832830G>T	ENST00000314073.5	+	13	3062	c.2886G>T	c.(2884-2886)tcG>tcT	p.S962S	GLTSCR1L_ENST00000394168.1_Silent_p.S962S			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	962																	TAGCAGATTCGCACTTGGAGA	0.498																																																0													77	76	76					6																	42832830		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2886G>T	6.37:g.42832830G>T			A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	CCDS34451.1																																																																																				0.498	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		T	42832830	G	T	42832830	2	4	154	1	0	0	0	0	0	0	0	1	8166	1074	38	4		4	KIAA0240	6	42832830	Silent	SNP	G	TCGA-B0-4836-01A-01D-1373-10		42832830	128282237	11	9084											
PKHD1	5314	hgsc.bcm.edu	37	6	51524622	51524622	+	Silent	SNP	A	A	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr6:51524622A>G	ENST00000371117.3	-	61	10577	c.10302T>C	c.(10300-10302)acT>acC	p.T3434T		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3434					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAAACCACTAGTCACAGATA	0.408																																																0													106	97	100					6																	51524622		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10302T>C	6.37:g.51524622A>G			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51524622	A	G	51524622	2	3	154	1	0	0	0	0	0	0	0	1	11973	407	15	3		3	PKHD1	6	51524622	Silent	SNP	A	TCGA-B0-4836-01A-01D-1373-10	8691792	51524622	119590445	12	9085											
UNC93A	54346	hgsc.bcm.edu;ucsc.edu	37	6	167705042	167705042	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr6:167705042A>G	ENST00000230256.3	+	1	240	c.65A>G	c.(64-66)tAt>tGt	p.Y22C	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.Y22C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTTACAGCCTATGGAGGTCTG	0.468																																																0													179	164	169					6																	167705042		2203	4300	6503	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.65A>G	6.37:g.167705042A>G	ENSP00000230256:p.Tyr22Cys		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.498828	0.26861	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	T;T;T	0.46451	0.87;0.87;0.87	5.57	1.7	0.24286	Major facilitator superfamily domain, general substrate transporter (1);	0.356815	0.29767	N	0.011251	T	0.50120	0.1597	M	0.87547	2.89	0.47949	D	0.999552	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.967	T	0.51474	-0.8701	10	0.62326	D	0.03	-22.5079	5.4334	0.16466	0.5395:0.0:0.0709:0.3896	.	22;22	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	C	22	ENSP00000421484:Y22C;ENSP00000230256:Y22C;ENSP00000355794:Y22C	ENSP00000230256:Y22C	Y	+	2	0	UNC93A	167625032	0.998000	0.40836	0.688000	0.30117	0.013000	0.08279	3.382000	0.52463	0.053000	0.16036	-0.261000	0.10672	TAT		0.468	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		G	167705042	A	G	167705042	3	3	154	1	0	0	0	0	1	0	0	0	17001	449	16	3	67	3	UNC93A	6	167705042	Missense_Mutation	SNP	A	TCGA-B0-4836-01A-01D-1373-10	116180420	167705042	3410025	13	9086											
SLC18A2	6571	hgsc.bcm.edu	37	10	119029905	119029905	+	Silent	SNP	G	G	T			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr10:119029905G>T	ENST00000298472.5	+	15	1514	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	457					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CAATTATTGGGATAATTGATA	0.388																																																0													203	187	193					10																	119029905		2203	4300	6503	SO:0001819	synonymous_variant	6571			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1371G>T	10.37:g.119029905G>T			B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	CCDS7599.1																																																																																				0.388	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		T	119029905	G	T	119029905	2	4	154	1	0	0	0	0	0	0	0	1	14432	1161	41	4		4	SLC18A2	10	119029905	Silent	SNP	G	TCGA-B0-4836-01A-01D-1373-10		119029905	16504842	14	9087											
TTC17	55761	hgsc.bcm.edu	37	11	43427495	43427495	+	Silent	SNP	A	A	C			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr11:43427495A>C	ENST00000039989.4	+	13	1769	c.1755A>C	c.(1753-1755)gcA>gcC	p.A585A	TTC17_ENST00000299240.6_Silent_p.A585A|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	585					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATGACCATGCACGAAAAGTAA	0.418																																																0													68	64	65					11																	43427495		2203	4300	6503	SO:0001819	synonymous_variant	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1755A>C	11.37:g.43427495A>C			G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	CCDS31466.1																																																																																				0.418	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		C	43427495	A	C	43427495	2	2	154	1	0	0	0	0	0	0	0	1	16689	146	6	5		5	TTC17	11	43427495	Silent	SNP	A	TCGA-B0-4836-01A-01D-1373-10		43427495	91579021	15	9088											
C11orf85	283129	hgsc.bcm.edu	37	11	64717341	64717341	+	Splice_Site	SNP	C	C	T			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr11:64717341C>T	ENST00000301896.5	-	6	297		c.e6-1		C11orf85_ENST00000432175.1_Splice_Site|C11orf85_ENST00000536065.1_Splice_Site|C11orf85_ENST00000530444.1_Intron	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85											breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTGCTTTTATCTGGAAAATGG	0.413																																																0													103	103	103					11																	64717341		2201	4297	6498	SO:0001630	splice_region_variant	283129			AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.224-1G>A	11.37:g.64717341C>T			B3KS99	Splice_Site	SNP	ENST00000301896.5	37	CCDS31603.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975518	0.74360	.	.	ENSG00000168070	ENST00000301896;ENST00000432175	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8361	0.85957	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C11orf85	64473917	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.246000	0.65411	2.659000	0.90383	0.644000	0.83932	.		0.413	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385477.1	NM_001037225	Intron	T	64717341	C	T	64717341	5	4	154	1	0	0	0	0	0	0	1	0	1670	927	32	2	447	2	C11orf85	11	64717341	Splice_Site	SNP	C	TCGA-B0-4836-01A-01D-1373-10	21289846	64717341	70289175	16	9089											
UHRF1BP1L	23074	hgsc.bcm.edu;ucsc.edu	37	12	100433530	100433530	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr12:100433530T>G	ENST00000279907.7	-	20	4331	c.4119A>C	c.(4117-4119)gaA>gaC	p.E1373D	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.E1023D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1373										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTTGACATTTTCTTTCAAAT	0.388																																																0													88	76	80					12																	100433530		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4119A>C	12.37:g.100433530T>G	ENSP00000279907:p.Glu1373Asp		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.37|10.37	1.331924|1.331924	0.24167|0.24167	.|.	.|.	ENSG00000111647|ENSG00000111647	ENST00000279907;ENST00000545232|ENST00000548712	T;T|.	0.09911|.	2.93;2.93|.	4.76|4.76	-0.455|-0.455	0.12193|0.12193	.|.	1.322250|.	0.04705|.	N|.	0.416679|.	T|T	0.13372|0.13372	0.0324|0.0324	N|N	0.04636|0.04636	-0.2|-0.2	0.23555|0.23555	N|N	0.997425|0.997425	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.28106|0.28106	-1.0054|-1.0054	10|5	0.11485|.	T|.	0.65|.	-3.9537|-3.9537	4.8412|4.8412	0.13491|0.13491	0.0:0.1939:0.3518:0.4543|0.0:0.1939:0.3518:0.4543	.|.	1373|.	A0JNW5|.	UH1BL_HUMAN|.	D|T	1373;1023|134	ENSP00000279907:E1373D;ENSP00000444824:E1023D|.	ENSP00000279907:E1373D|.	E|K	-|-	3|2	2|0	UHRF1BP1L|UHRF1BP1L	98957661|98957661	0.518000|0.518000	0.26234|0.26234	0.118000|0.118000	0.21660|0.21660	0.935000|0.935000	0.57460|0.57460	0.614000|0.614000	0.24314|0.24314	-0.010000|-0.010000	0.14271|0.14271	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.388	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		G	100433530	T	G	100433530	3	3	154	1	0	0	0	0	1	0	0	0	16974	1838	64	5	283	5	UHRF1BP1L	12	100433530	Missense_Mutation	SNP	T	TCGA-B0-4836-01A-01D-1373-10		100433530	33418365	17	9090											
SLITRK6	84189	hgsc.bcm.edu;ucsc.edu	37	13	86369855	86369855	+	Silent	SNP	C	C	T			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr13:86369855C>T	ENST00000400286.2	-	2	1387	c.789G>A	c.(787-789)aaG>aaA	p.K263K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	263	LRRCT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAATAGATTCCTTCTTTAGTC	0.403																																																0													110	98	102					13																	86369855		1895	4114	6009	SO:0001819	synonymous_variant	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.789G>A	13.37:g.86369855C>T			A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	CCDS41903.1																																																																																				0.403	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		T	86369855	C	T	86369855	2	4	154	1	0	0	0	0	0	0	0	1	14753	680	24	2		2	SLITRK6	13	86369855	Silent	SNP	C	TCGA-B0-4836-01A-01D-1373-10		86369855	28800023	18	9091											
FSCB	84075	hgsc.bcm.edu	37	14	44973866	44973866	+	Silent	SNP	C	C	A	rs200610473		TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr14:44973866C>A	ENST00000340446.4	-	1	2616	c.2325G>T	c.(2323-2325)tcG>tcT	p.S775S	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	775			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CCAAAACAACCGATCCTAATT	0.418																																																0													82	89	87					14																	44973866		2203	4300	6503	SO:0001819	synonymous_variant	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2325G>T	14.37:g.44973866C>A			Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	CCDS9679.1																																																																																				0.418	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		A	44973866	C	A	44973866	2	1	154	1	0	0	0	0	0	0	0	1	6068	639	23	4		4	FSCB	14	44973866	Silent	SNP	C	TCGA-B0-4836-01A-01D-1373-10		44973866	62375674	19	9092											
CIITA	4261	hgsc.bcm.edu;ucsc.edu	37	16	10997702	10997702	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr16:10997702A>T	ENST00000324288.8	+	9	1020	c.887A>T	c.(886-888)gAc>gTc	p.D296V	CIITA_ENST00000381835.5_Missense_Mutation_p.D247V|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	296					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCAGCCACTGACCTGCCCAGC	0.622			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													110	99	103					16																	10997702		2197	4300	6497	SO:0001583	missense	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.887A>T	16.37:g.10997702A>T	ENSP00000316328:p.Asp296Val		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110106	0.56398	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.74737	-0.87;0.82	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000020	D	0.84465	0.5478	M	0.74258	2.255	0.50171	D	0.999858	D;D;P;D;P;D	0.76494	0.999;0.982;0.864;0.995;0.916;0.997	D;P;P;D;P;D	0.72982	0.979;0.642;0.452;0.92;0.721;0.921	D	0.86122	0.1569	10	0.72032	D	0.01	.	11.937	0.52878	1.0:0.0:0.0:0.0	.	296;247;296;296;248;296	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	V	296;247;248;296	ENSP00000316328:D296V;ENSP00000371257:D247V	ENSP00000316328:D296V	D	+	2	0	CIITA	10905203	1.000000	0.71417	0.988000	0.46212	0.759000	0.43091	3.920000	0.56446	2.076000	0.62316	0.533000	0.62120	GAC		0.622	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		T	10997702	A	T	10997702	3	4	154	1	0	0	0	0	1	0	0	0	3430	275	10	5	921	5	CIITA	16	10997702	Missense_Mutation	SNP	A	TCGA-B0-4836-01A-01D-1373-10		10997702	79357051	20	9093											
KCTD19	146212	hgsc.bcm.edu	37	16	67327642	67327642	+	Missense_Mutation	SNP	C	C	T	rs145649592	byFrequency	TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr16:67327642C>T	ENST00000304372.5	-	12	2078	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	675					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GAAGCAGCCTCGCTTCCCAAG	0.617													C|||	14	0.00279553	0.0	0.0029	5008	,	,		17949	0.0		0.006	False		,,,				2504	0.0061															0								C	LYS/GLU	2,4160		0,2,2079	76	86	83		2023	4.9	0.9	16	dbSNP_134	83	43,8353		0,43,4155	yes	missense	KCTD19	NM_001100915.1	56	0,45,6234	TT,TC,CC		0.5121,0.0481,0.3583	probably-damaging	675/927	67327642	45,12513	2081	4198	6279	SO:0001583	missense	146212			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2023G>A	16.37:g.67327642C>T	ENSP00000305702:p.Glu675Lys		B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	CCDS42179.1	7	0.003205128205128205	0	0.0	0	0.0	0	0.0	7	0.009234828496042216	C	13.27	2.187741	0.38609	4.81E-4	0.005121	ENSG00000168676	ENST00000304372	T	0.58940	0.3	5.86	4.92	0.64577	.	0.101032	0.43747	D	0.000539	T	0.37945	0.1022	N	0.24115	0.695	0.27940	N	0.937539	D	0.67145	0.996	P	0.48063	0.565	T	0.31052	-0.9957	10	0.32370	T	0.25	-21.685	9.3289	0.38010	0.0:0.8369:0.0:0.1631	.	675	Q17RG1	KCD19_HUMAN	K	675	ENSP00000305702:E675K	ENSP00000305702:E675K	E	-	1	0	KCTD19	65885143	0.747000	0.28283	0.940000	0.37924	0.914000	0.54420	1.272000	0.33109	1.493000	0.48517	-0.244000	0.11960	GAG		0.617	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		T	67327642	C	T	67327642	3	4	154	1	0	0	0	0	1	0	0	0	8108	893	31	1	777	1	KCTD19	16	67327642	Missense_Mutation	SNP	C	TCGA-B0-4836-01A-01D-1373-10	56329940	67327642	23027111	21	9094											
RANGRF	29098	hgsc.bcm.edu	37	17	8193196	8193196	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr17:8193196T>G	ENST00000226105.6	+	5	795	c.503T>G	c.(502-504)tTt>tGt	p.F168C	SLC25A35_ENST00000580340.1_Missense_Mutation_p.K279T|RANGRF_ENST00000439238.3_3'UTR|SLC25A35_ENST00000579192.1_Missense_Mutation_p.K279T|RANGRF_ENST00000407006.4_3'UTR|SLC25A35_ENST00000380067.2_Missense_Mutation_p.K279T|SLC25A35_ENST00000581320.1_5'Flank|RANGRF_ENST00000580434.1_3'UTR|SLC25A35_ENST00000396278.1_3'UTR	NM_016492.4	NP_057576.2	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	168					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein localization to cell surface (GO:2000010)|protein exit from endoplasmic reticulum (GO:0032527)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization (GO:0003254)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	guanyl-nucleotide exchange factor activity (GO:0005085)|ion channel binding (GO:0044325)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)|sodium channel regulator activity (GO:0017080)			endometrium(1)	1						CTGGGTGACTTTGAACAGCTG	0.542																																																0													145	143	144					17																	8193196		2203	4300	6503	SO:0001583	missense	29098			AF151070	CCDS11137.1, CCDS54086.1, CCDS54087.1	17p13	2014-05-09				ENSG00000108961			17679	protein-coding gene	gene with protein product	"MOG1 homolog (S. cerevisiae)"	607954				11290418	Standard	NM_016492		Approved	MOG1, HSPC165, HSPC236, RANGNRF	uc002gkv.3	Q9HD47		ENST00000226105.6:c.503T>G	17.37:g.8193196T>G	ENSP00000226105:p.Phe168Cys		D3DTR6|Q68DI3|Q9BR68|Q9HD48|Q9NRU9|Q9P001|Q9P0P2	Missense_Mutation	SNP	ENST00000226105.6	37	CCDS11137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.60|19.60	3.858233|3.858233	0.71834|0.71834	.|.	.|.	ENSG00000108961|ENSG00000125434	ENST00000226105|ENST00000380067	T|T	0.79247|0.80738	-1.25|-1.41	5.74|5.74	5.74|5.74	0.90152|0.90152	Mog1/PsbP, alpha/beta/alpha sandwich (1);Mog1/PsbP/DUF1795, alpha/beta/alpha sandwich (1);|.	.|1.162190	.|0.06123	.|N	.|0.669220	T|T	0.79873|0.79873	0.4521|0.4521	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D|B	0.76494|0.34290	0.999|0.447	D|B	0.73380|0.41332	0.98|0.354	T|T	0.66826|0.66826	-0.5825|-0.5825	9|10	0.46703|0.87932	T|D	0.11|0	1.0676|1.0676	12.436|12.436	0.55600|0.55600	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	168|279	Q9HD47|Q3KQZ1-4	MOG1_HUMAN|.	C|T	168|279	ENSP00000226105:F168C|ENSP00000369407:K279T	ENSP00000226105:F168C|ENSP00000369407:K279T	F|K	+|-	2|2	0|0	RANGRF|SLC25A35	8133921|8133921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.859000|3.859000	0.55987|0.55987	2.182000|2.182000	0.69389|0.69389	0.496000|0.496000	0.49642|0.49642	TTT|AAA		0.542	RANGRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442127.1	NM_016492		G	8193196	T	G	8193196	3	3	154	1	0	0	0	0	1	0	0	0	13040	1841	64	5	609	5	RANGRF	17	8193196	Missense_Mutation	SNP	T	TCGA-B0-4836-01A-01D-1373-10		8193196	73002014	22	9095											
FLII	2314	hgsc.bcm.edu	37	17	18156613	18156613	+	Splice_Site	SNP	A	A	C			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr17:18156613A>C	ENST00000327031.4	-	9	1239		c.e9+1		FLII_ENST00000379450.4_Splice_Site|FLII_ENST00000579294.1_Splice_Site|FLII_ENST00000584444.1_5'Flank|FLII_ENST00000545457.2_Splice_Site|FLII_ENST00000578558.1_Splice_Site	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)						multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCTGCCCAGCACCTGCAGAGA	0.577																																																0													45	43	44					17																	18156613		2203	4300	6503	SO:0001630	splice_region_variant	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1013+1T>G	17.37:g.18156613A>C			B4DIL0|F5H407|J3QLG3	Splice_Site	SNP	ENST00000327031.4	37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155552	0.57259	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1063	0.81225	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLII	18097338	1.000000	0.71417	0.995000	0.50966	0.446000	0.32137	8.928000	0.92853	2.205000	0.71048	0.528000	0.53228	.		0.577	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018	Intron	C	18156613	A	C	18156613	5	2	154	1	0	0	0	0	0	0	1	0	5927	173	6	5	2882	5	FLII	17	18156613	Splice_Site	SNP	A	TCGA-B0-4836-01A-01D-1373-10	9963417	18156613	63038597	23	9096											
MYCBPAP	84073	hgsc.bcm.edu;ucsc.edu	37	17	48600354	48600354	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr17:48600354A>C	ENST00000323776.5	+	11	1603	c.1441A>C	c.(1441-1443)Acc>Ccc	p.T481P	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.T444P	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGGCGAGAAAACCTCCTCAGA	0.517																																																0													106	104	104					17																	48600354		2203	4300	6503	SO:0001583	missense	84073			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1441A>C	17.37:g.48600354A>C	ENSP00000323184:p.Thr481Pro			Missense_Mutation	SNP	ENST00000323776.5	37	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574808	0.45902	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.45668	0.89;0.89	5.83	3.61	0.41365	.	0.112239	0.64402	D	0.000014	T	0.55178	0.1904	M	0.72479	2.2	0.37464	D	0.915324	D	0.76494	0.999	D	0.64776	0.929	T	0.60424	-0.7266	10	0.59425	D	0.04	-9.7277	5.6724	0.17729	0.646:0.0:0.354:0.0	.	444	Q8TBZ2	MYBPP_HUMAN	P	481;444	ENSP00000323184:T481P;ENSP00000397209:T444P	ENSP00000323184:T481P	T	+	1	0	MYCBPAP	45955353	1.000000	0.71417	0.783000	0.31826	0.019000	0.09904	3.869000	0.56062	1.006000	0.39211	0.533000	0.62120	ACC		0.517	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		C	48600354	A	C	48600354	3	2	154	1	0	0	0	0	1	0	0	0	10021	43	2	5	1483	5	MYCBPAP	17	48600354	Missense_Mutation	SNP	A	TCGA-B0-4836-01A-01D-1373-10	30443741	48600354	32594856	24	9097											
FAM187B	148109	hgsc.bcm.edu	37	19	35719577	35719577	+	Missense_Mutation	SNP	G	G	A	rs34873156	byFrequency	TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr19:35719577G>A	ENST00000324675.3	-	1	55	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	3			P -> S (in dbSNP:rs34873156). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CACAGCATGGGTGGCATGGTG	0.612													-|||	864	0.172524	0.112	0.2435	5008	,	,		16647	0.0159		0.3718	False		,,,				2504	0.1605															0								G	SER/PRO	590,3804		38,514,1645	25	28	27		7	-3.6	0	19	dbSNP_126	27	3231,5367		596,2039,1664	yes	missense	FAM187B	NM_152481.1	74	634,2553,3309	AA,AG,GG		37.5785,13.4274,29.4104	benign	3/370	35719577	3821,9171	2197	4299	6496	SO:0001583	missense	148109			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.7C>T	19.37:g.35719577G>A	ENSP00000323355:p.Pro3Ser		Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	CCDS12448.1	458	0.2097069597069597	65	0.13211382113821138	92	0.2541436464088398	14	0.024475524475524476	287	0.3786279683377309	G	2.096	-0.407252	0.04832	0.134274	0.375785	ENSG00000177558	ENST00000324675	T	0.21543	2.0	5.3	-3.6	0.04570	.	0.804889	0.11107	N	0.599034	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.46034	-0.9220	9	0.09338	T	0.73	-17.2885	2.0071	0.03480	0.128:0.3374:0.2819:0.2527	rs34873156;rs62111448	3	Q17R55	F187B_HUMAN	S	3	ENSP00000323355:P3S	ENSP00000323355:P3S	P	-	1	0	FAM187B	40411417	0.000000	0.05858	0.013000	0.15412	0.002000	0.02628	-1.237000	0.02922	-0.394000	0.07727	-1.105000	0.02106	CCC		0.612	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		A	35719577	G	A	35719577	3	1	154	1	0	0	0	0	1	0	0	0	5515	1261	44	2	1110	2	FAM187B	19	35719577	Missense_Mutation	SNP	G	TCGA-B0-4836-01A-01D-1373-10		35719577	23409406	25	9098											
ZNF343	79175	hgsc.bcm.edu;ucsc.edu	37	20	2464883	2464883	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chr20:2464883T>A	ENST00000278772.4	-	6	1211	c.724A>T	c.(724-726)Aac>Tac	p.N242Y	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCTCTACAGTTGATTGCTCCA	0.463																																																0													106	105	105					20																	2464883		2203	4300	6503	SO:0001583	missense	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.724A>T	20.37:g.2464883T>A	ENSP00000278772:p.Asn242Tyr		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837739	0.32513	.	.	ENSG00000088876	ENST00000278772	T	0.08634	3.07	2.55	2.55	0.30701	.	.	.	.	.	T	0.05273	0.0140	L	0.31371	0.925	0.41129	D	0.985871	P	0.42908	0.793	B	0.33846	0.171	T	0.39901	-0.9591	9	0.66056	D	0.02	.	7.0135	0.24875	0.0:0.0:0.0:1.0	.	242	Q6P1L6	ZN343_HUMAN	Y	242	ENSP00000278772:N242Y	ENSP00000278772:N242Y	N	-	1	0	ZNF343	2412883	0.000000	0.05858	0.012000	0.15200	0.377000	0.30045	0.269000	0.18589	1.432000	0.47375	0.482000	0.46254	AAC		0.463	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		A	2464883	T	A	2464883	3	1	154	1	0	0	0	0	1	0	0	0	17863	1812	63	5	1079	5	ZNF343	20	2464883	Missense_Mutation	SNP	T	TCGA-B0-4836-01A-01D-1373-10		2464883	60560637	26	9099											
ASMTL	8623	hgsc.bcm.edu	37	X	1537002	1537002	+	Silent	SNP	C	C	G			TCGA-B0-4836-01A-01D-1373-10	TCGA-B0-4836-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ae185e8-5361-48e7-932e-618ffb3fa8a4	797b658e-45e3-4663-a14d-272a16f7e321	g.chrX:1537002C>G	ENST00000381317.3	-	11	1418	c.1386G>C	c.(1384-1386)acG>acC	p.T462T	ASMTL_ENST00000416733.2_Silent_p.T386T|ASMTL_ENST00000381333.4_Silent_p.T446T|ASMTL_ENST00000534940.1_Silent_p.T404T	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	462	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGTGCACCCGTGCAGCCTG	0.582													c|||	3352	0.669329	0.3699	0.7161	5008	,	,		19444	0.8294		0.6859	False		,,,				2504	0.8589															0									,,	1770,2444		379,1012,716	82	99	93		1212,1338,1386	-2.9	0.5	X		93	5876,2566		2051,1774,396	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	2430,2786,1112	GG,GC,CC		30.3956,42.0028,39.586	,,	404/564,446/606,462/622	1537002	7646,5010	2107	4221	6328	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1386G>C	X.37:g.1537002C>G			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	CCDS43917.1																																																																																				0.582	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		G	1537002	C	G	1537002	2	3	154	1	0	0	0	0	0	0	0	1	1046	639	23	4		4	ASMTL	23	1537002	Silent	SNP	C	TCGA-B0-4836-01A-01D-1373-10		1537002	153733558	27	9100											
PLCH2	9651	hgsc.bcm.edu	37	1	2421272	2421272	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr1:2421272A>T	ENST00000419816.2	+	10	1755	c.1481A>T	c.(1480-1482)gAg>gTg	p.E494V	RP3-395M20.2_ENST00000424657.1_RNA|PLCH2_ENST00000449969.1_Missense_Mutation_p.E467V|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.E494V|PLCH2_ENST00000378488.3_Missense_Mutation_p.E494V			O75038	PLCH2_HUMAN	phospholipase C, eta 2	494					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGTGCTGATGAGATTGACGAT	0.612																																																0													126	137	133					1																	2421272		2186	4287	6473	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1481A>T	1.37:g.2421272A>T	ENSP00000389803:p.Glu494Val		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.	.	.	.	.	.	.	.	.	.	A	24.5	4.541373	0.85917	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.50277	0.75;0.75;0.75	4.84	4.84	0.62591	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.576765	0.17258	N	0.180864	T	0.70072	0.3182	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.91635	0.979;0.979;0.999;0.937	T	0.74084	-0.3779	10	0.87932	D	0	.	13.9085	0.63850	1.0:0.0:0.0:0.0	.	341;282;467;494	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	V	467;494;494;341;282	ENSP00000397289:E467V;ENSP00000367747:E494V;ENSP00000367749:E494V	ENSP00000278878:E282V	E	+	2	0	PLCH2	2411132	1.000000	0.71417	0.953000	0.39169	0.703000	0.40648	7.275000	0.78548	1.940000	0.56252	0.459000	0.35465	GAG		0.612	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		T	2421272	A	T	2421272	3	4	155	1	0	0	0	0	1	0	0	0	12040	304	11	5	1519	5	PLCH2	1	2421272	Missense_Mutation	SNP	A	TCGA-B0-4837-01A-01D-1373-10		2421272	246829349	1	9101											
CHD5	26038	hgsc.bcm.edu	37	1	6171886	6171886	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr1:6171886T>C	ENST00000262450.3	-	36	5297	c.5198A>G	c.(5197-5199)tAc>tGc	p.Y1733C	CHD5_ENST00000378021.1_Missense_Mutation_p.Y590C	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCAGATGTCGTAGATTTTCCC	0.627																																																0													56	58	57					1																	6171886		2203	4299	6502	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5198A>G	1.37:g.6171886T>C	ENSP00000262450:p.Tyr1733Cys		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	t	27.0	4.791025	0.90367	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.91407	-2.84;2.12	4.64	4.64	0.57946	CHD, C-terminal 2 (1);	0.174219	0.39274	N	0.001414	D	0.92590	0.7646	L	0.48642	1.525	0.48901	D	0.999721	D;D	0.67145	0.996;0.992	D;P	0.64506	0.926;0.873	D	0.92942	0.6373	10	0.54805	T	0.06	-28.4947	14.3782	0.66892	0.0:0.0:0.0:1.0	.	1733;590	Q8TDI0;Q5TG85	CHD5_HUMAN;.	C	1733;590;590	ENSP00000262450:Y1733C;ENSP00000367260:Y590C	ENSP00000262450:Y1733C	Y	-	2	0	CHD5	6094473	1.000000	0.71417	0.973000	0.42090	0.980000	0.70556	7.924000	0.87555	1.860000	0.53959	0.459000	0.35465	TAC		0.627	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		C	6171886	T	C	6171886	3	2	155	1	0	0	0	0	1	0	0	0	3330	1638	57	3	690	3	CHD5	1	6171886	Missense_Mutation	SNP	T	TCGA-B0-4837-01A-01D-1373-10	3750614	6171886	243078735	2	9102											
ABCA4	24	hgsc.bcm.edu;ucsc.edu	37	1	94568673	94568673	+	Silent	SNP	G	G	T	rs148091207	byFrequency	TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr1:94568673G>T	ENST00000370225.3	-	5	554	c.468C>A	c.(466-468)atC>atA	p.I156I	ABCA4_ENST00000535735.1_Silent_p.I156I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	156			I -> V (in STGD1; dbSNP:rs62646863). {ECO:0000269|PubMed:18977788}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATCTTTCAAGATATCCCTTA	0.413																																																0													251	240	244					1																	94568673		2203	4300	6503	SO:0001819	synonymous_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.468C>A	1.37:g.94568673G>T			O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				0.413	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94568673	G	T	94568673	2	4	155	1	0	0	0	0	0	0	0	1	34	932	33	4		4	ABCA4	1	94568673	Silent	SNP	G	TCGA-B0-4837-01A-01D-1373-10	88396787	94568673	154681948	3	9103											
NRBP1	29959	hgsc.bcm.edu;ucsc.edu	37	2	27663325	27663325	+	Silent	SNP	C	C	T			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr2:27663325C>T	ENST00000233557.3	+	13	1924	c.1092C>T	c.(1090-1092)gcC>gcT	p.A364A	KRTCAP3_ENST00000288873.3_5'Flank|NRBP1_ENST00000379863.3_Silent_p.A372A|NRBP1_ENST00000379852.3_Silent_p.A364A|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	364					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATACTAGTGCCGTACTGGCTG	0.488																																																0													105	101	102					2																	27663325		2203	4300	6503	SO:0001819	synonymous_variant	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1092C>T	2.37:g.27663325C>T			B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	CCDS1753.1																																																																																				0.488	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		T	27663325	C	T	27663325	2	4	155	1	0	0	0	0	0	0	0	1	10644	639	23	1		1	NRBP1	2	27663325	Silent	SNP	C	TCGA-B0-4837-01A-01D-1373-10		27663325	215536048	4	9104											
NFE2L2	4780	hgsc.bcm.edu;ucsc.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	4	Substitution - Missense(4)	lung(2)|endometrium(2)											75	68	70					2																	178098945		1847	4103	5950	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.100C>G	2.37:g.178098945G>C	ENSP00000380252:p.Arg34Gly		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190279	0.58017	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.78	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.86740	2.835	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.998;0.998	T	0.66862	-0.5816	10	0.72032	D	0.01	.	14.8506	0.70295	0.0:0.0:0.6243:0.3757	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	18;34;18;18;18;18;18	ENSP00000380253:R18G;ENSP00000380252:R34G;ENSP00000411575:R18G;ENSP00000391590:R18G;ENSP00000400073:R18G;ENSP00000412191:R18G;ENSP00000410015:R18G	ENSP00000380252:R34G	R	-	1	2	NFE2L2	177807191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.376000	0.73141	0.300000	0.22699	0.563000	0.77884	CGA		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		C	178098945	G	C	178098945	3	2	155	1	0	0	0	0	1	0	0	0	10370	1066	37	4	1733	4	NFE2L2	2	178098945	Missense_Mutation	SNP	G	TCGA-B0-4837-01A-01D-1373-10	150435620	178098945	65100428	5	9105											
SETD2	29072	ucsc.edu	37	3	47059132	47059132	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	C	G	C	C	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr3:47059132C>G	ENST00000409792.3	-	20	7571	c.7529G>C	c.(7528-7530)cGc>cCc	p.R2510P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2510	Interaction with POLR2A.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R2510H(1)|p.R2007H(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGTACCTTGCGAGCCAGATG	0.453			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											125	102	110					3																	47059132		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7529G>C	3.37:g.47059132C>G	ENSP00000386759:p.Arg2510Pro		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716824	0.89205	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.93133	-3.17	5.44	5.44	0.79542	SRI, Set2 Rpb1 interacting (1);	0.000000	0.56097	D	0.000037	D	0.96549	0.8874	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.988;0.998	D	0.96652	0.9482	10	0.87932	D	0	.	18.2031	0.89846	0.0:1.0:0.0:0.0	.	2510;2510	F2Z317;Q9BYW2	.;SETD2_HUMAN	P	2510	ENSP00000386759:R2510P	ENSP00000386759:R2510P	R	-	2	0	SETD2	47034136	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.390000	0.79816	2.837000	0.97791	0.655000	0.94253	CGC		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47059132	C	G	47059132	3	3	155	1	0	0	0	0	1	0	0	0	14137	768	27	4	173	4	SETD2	3	47059132	Missense_Mutation	SNP	C	TCGA-B0-4837-01A-01D-1373-10		47059132	150963298	6	9106											
PRKCD	5580	hgsc.bcm.edu	37	3	53219628	53219628	+	Silent	SNP	C	C	T			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr3:53219628C>T	ENST00000394729.2	+	10	1225	c.897C>T	c.(895-897)tcC>tcT	p.S299S	PRKCD_ENST00000330452.3_Silent_p.S299S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	299					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.S299S(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGAGAGCCTCCCGGAGATCAG	0.572																																																1	Substitution - coding silent(1)	lung(1)											83	92	89					3																	53219628		2203	4300	6503	SO:0001819	synonymous_variant	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.897C>T	3.37:g.53219628C>T			B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	CCDS2870.1																																																																																				0.572	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			T	53219628	C	T	53219628	2	4	155	1	0	0	0	0	0	0	0	1	12514	610	22	2		2	PRKCD	3	53219628	Silent	SNP	C	TCGA-B0-4837-01A-01D-1373-10	6160496	53219628	144802802	7	9107											
MASP1	5648	hgsc.bcm.edu;ucsc.edu	37	3	186937985	186937985	+	Silent	SNP	G	G	A			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr3:186937985G>A	ENST00000337774.5	-	16	2363	c.1974C>T	c.(1972-1974)ggC>ggT	p.G658G		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	658	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGTACCACTGGCCTCTTTCTC	0.532											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													91	85	87					3																	186937985		2203	4300	6503	SO:0001819	synonymous_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1974C>T	3.37:g.186937985G>A		2011	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	CCDS33907.1																																																																																				0.532	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		A	186937985	G	A	186937985	2	1	155	1	0	0	0	0	0	0	0	1	9324	1190	42	2		2	MASP1	3	186937985	Silent	SNP	G	TCGA-B0-4837-01A-01D-1373-10	133718357	186937985	11084445	8	9108											
RGS12	6002	hgsc.bcm.edu;ucsc.edu	37	4	3432133	3432133	+	Splice_Site	SNP	G	G	T			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr4:3432133G>T	ENST00000344733.5	+	17	4469		c.e17-1		RGS12_ENST00000538395.1_Splice_Site|RGS12_ENST00000306648.7_Splice_Site|RGS12_ENST00000336727.3_Splice_Site|RGS12_ENST00000382788.3_Splice_Site|RGS12_ENST00000338806.4_Splice_Site	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12						positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTTCCAATAGAGTTTTTTGA	0.458																																																0													106	106	106					4																	3432133		2203	4300	6503	SO:0001630	splice_region_variant	6002			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3566-1G>T	4.37:g.3432133G>T			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Splice_Site	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175503	0.78564	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7743	0.85547	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGS12	3401931	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	9.405000	0.97313	2.193000	0.70182	0.655000	0.94253	.		0.458	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	Intron	T	3432133	G	T	3432133	5	4	155	1	0	0	0	0	0	0	1	0	13301	956	33	4	3685	4	RGS12	4	3432133	Splice_Site	SNP	G	TCGA-B0-4837-01A-01D-1373-10		3432133	187722143	9	9109											
KLHL5	51088	hgsc.bcm.edu;ucsc.edu	37	4	39116919	39116919	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr4:39116919C>T	ENST00000504108.1	+	10	2463	c.2180C>T	c.(2179-2181)gCt>gTt	p.A727V	RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000261425.3_Missense_Mutation_p.A681V|KLHL5_ENST00000261426.5_Missense_Mutation_p.A666V|KLHL5_ENST00000359687.2_Missense_Mutation_p.A727V|KLHL5_ENST00000381930.3_Missense_Mutation_p.A727V|KLHL5_ENST00000508137.2_Missense_Mutation_p.A540V	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	727						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACTGTGGAGGCTTATGATCCC	0.408																																																0													103	92	96					4																	39116919		2203	4300	6503	SO:0001583	missense	51088			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.2180C>T	4.37:g.39116919C>T	ENSP00000423897:p.Ala727Val		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267776	0.59540	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	6.06	6.06	0.98353	Kelch-type beta propeller (1);	0.044840	0.85682	D	0.000000	T	0.64494	0.2603	N	0.02296	-0.605	0.80722	D	1	P;P;P	0.52463	0.523;0.582;0.953	P;P;P	0.55087	0.535;0.768;0.657	T	0.64266	-0.6448	10	0.10377	T	0.69	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	666;727;727	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	V	761;681;540;727;727;727;666;321	ENSP00000261425:A681V;ENSP00000423080:A540V;ENSP00000423897:A727V;ENSP00000352716:A727V;ENSP00000371355:A727V;ENSP00000261426:A666V	ENSP00000261425:A681V	A	+	2	0	KLHL5	38793314	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.629000	0.83207	2.882000	0.98803	0.655000	0.94253	GCT		0.408	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			T	39116919	C	T	39116919	3	4	155	1	0	0	0	0	1	0	0	0	8394	797	28	2	2218	2	KLHL5	4	39116919	Missense_Mutation	SNP	C	TCGA-B0-4837-01A-01D-1373-10	35684786	39116919	152037357	10	9110											
ANKRD17	26057	hgsc.bcm.edu;ucsc.edu	37	4	74021354	74021354	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr4:74021354A>T	ENST00000358602.4	-	5	1110	c.994T>A	c.(994-996)Tca>Aca	p.S332T	ANKRD17_ENST00000509867.2_Missense_Mutation_p.S219T|ANKRD17_ENST00000330838.6_Missense_Mutation_p.S332T|ANKRD17_ENST00000514252.1_5'Flank	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	332					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGACCTGTTGAAGACTGTGCA	0.353																																																0													125	110	115					4																	74021354		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.994T>A	4.37:g.74021354A>T	ENSP00000351416:p.Ser332Thr		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.393168	0.83011	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.15834	2.39;2.39;2.39	5.87	5.87	0.94306	Ankyrin repeat-containing domain (4);	0.000000	0.53938	D	0.000045	T	0.15869	0.0382	N	0.12831	0.26	0.38182	D	0.939636	P;P;P;P	0.46578	0.541;0.88;0.596;0.596	B;P;B;B	0.47102	0.234;0.537;0.444;0.262	T	0.09552	-1.0669	10	0.49607	T	0.09	.	16.2806	0.82678	1.0:0.0:0.0:0.0	.	332;332;332;219	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	332;332;332;219;332	ENSP00000351416:S332T;ENSP00000332265:S332T;ENSP00000427151:S219T	ENSP00000332265:S332T	S	-	1	0	ANKRD17	74240218	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.248000	0.95456	2.248000	0.74166	0.533000	0.62120	TCA		0.353	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	74021354	A	T	74021354	3	4	155	1	0	0	0	0	1	0	0	0	646	246	9	5	6937	5	ANKRD17	4	74021354	Missense_Mutation	SNP	A	TCGA-B0-4837-01A-01D-1373-10	34904435	74021354	117132922	11	9111											
ANK2	287	hgsc.bcm.edu	37	4	114179233	114179233	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr4:114179233T>C	ENST00000357077.4	+	12	1269	c.1216T>C	c.(1216-1218)Tgc>Cgc	p.C406R	ANK2_ENST00000264366.6_Missense_Mutation_p.C406R|ANK2_ENST00000506722.1_Missense_Mutation_p.C385R|ANK2_ENST00000394537.3_Missense_Mutation_p.C406R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	406					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCACATTGCCTGCAAGAAAAA	0.403																																																0													117	108	111					4																	114179233		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1216T>C	4.37:g.114179233T>C	ENSP00000349588:p.Cys406Arg		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059442	0.76074	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.65178	-0.14;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.95	5.95	0.96441	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000012	T	0.78355	0.4270	M	0.67569	2.06	0.80722	D	1	B;B;B;B;D	0.65815	0.045;0.285;0.016;0.044;0.995	B;B;B;B;D	0.83275	0.05;0.234;0.02;0.03;0.996	T	0.80358	-0.1416	10	0.87932	D	0	.	16.4069	0.83677	0.0:0.0:0.0:1.0	.	406;406;406;385;385	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	385;385;385;421;406;406;406;385	ENSP00000423799:C385R;ENSP00000421011:C385R;ENSP00000421067:C385R;ENSP00000424722:C421R;ENSP00000378044:C406R;ENSP00000349588:C406R;ENSP00000264366:C406R	ENSP00000264366:C406R	C	+	1	0	ANK2	114398682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.272000	0.75746	0.460000	0.39030	TGC		0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		C	114179233	T	C	114179233	3	2	155	1	0	0	0	0	1	0	0	0	621	1580	55	3	1287	3	ANK2	4	114179233	Missense_Mutation	SNP	T	TCGA-B0-4837-01A-01D-1373-10	40157879	114179233	76975043	12	9112											
DNAH5	1767	hgsc.bcm.edu;ucsc.edu	37	5	13830726	13830726	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr5:13830726C>A	ENST00000265104.4	-	36	6145	c.6041G>T	c.(6040-6042)gGa>gTa	p.G2014V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2014	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCGTCCAAGTCCTCGGAAATC	0.413									Kartagener syndrome																																							0													103	103	103					5																	13830726		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6041G>T	5.37:g.13830726C>A	ENSP00000265104:p.Gly2014Val		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496751	0.85069	.	.	ENSG00000039139	ENST00000265104	T	0.39592	1.07	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64300	-0.6440	10	0.87932	D	0	.	19.4895	0.95044	0.0:1.0:0.0:0.0	.	2014	Q8TE73	DYH5_HUMAN	V	2014	ENSP00000265104:G2014V	ENSP00000265104:G2014V	G	-	2	0	DNAH5	13883726	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.596000	0.87737	0.655000	0.94253	GGA		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13830726	C	A	13830726	3	1	155	1	0	0	0	0	1	0	0	0	4606	855	30	4	8009	4	DNAH5	5	13830726	Missense_Mutation	SNP	C	TCGA-B0-4837-01A-01D-1373-10		13830726	167084534	13	9113											
FBXO4	26272	hgsc.bcm.edu;ucsc.edu	37	5	41929897	41929897	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr5:41929897A>G	ENST00000281623.3	+	3	580	c.524A>G	c.(523-525)aAt>aGt	p.N175S	FBXO4_ENST00000509134.1_Missense_Mutation_p.N175S|FBXO4_ENST00000296812.2_Missense_Mutation_p.N175S	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	175					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ATCATTCAGAATGAACCACGA	0.428																																																0													256	232	240					5																	41929897		2203	4300	6503	SO:0001583	missense	26272			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"F-boxes /  "other""	13583	protein-coding gene	gene with protein product		609090	"F-box only protein 4"			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.524A>G	5.37:g.41929897A>G	ENSP00000281623:p.Asn175Ser		Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.408042	0.25378	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.38240	1.15;1.15;1.15	5.76	3.47	0.39725	.	0.281830	0.40640	N	0.001046	T	0.12092	0.0294	N	0.02011	-0.69	0.26804	N	0.969136	B;B;B	0.12013	0.001;0.005;0.002	B;B;B	0.09377	0.002;0.001;0.004	T	0.24190	-1.0167	10	0.14656	T	0.56	-19.8497	7.1555	0.25635	0.5352:0.3727:0.092:0.0	.	175;175;175	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	S	175	ENSP00000296812:N175S;ENSP00000281623:N175S;ENSP00000421749:N175S	ENSP00000281623:N175S	N	+	2	0	FBXO4	41965654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.183000	0.58317	1.004000	0.39156	0.533000	0.62120	AAT		0.428	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			G	41929897	A	G	41929897	3	3	155	1	0	0	0	0	1	0	0	0	5750	101	4	3	534	3	FBXO4	5	41929897	Missense_Mutation	SNP	A	TCGA-B0-4837-01A-01D-1373-10	28099171	41929897	138985363	14	9114											
POLH	5429	hgsc.bcm.edu;ucsc.edu	37	6	43550779	43550779	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr6:43550779G>T	ENST00000372236.4	+	3	468	c.173G>T	c.(172-174)gGa>gTa	p.G58V	POLH_ENST00000535400.1_5'UTR|POLH_ENST00000372226.1_Missense_Mutation_p.G58V	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CGTGCATTTGGAGTCACTAGA	0.388								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																																							0													114	97	103					6																	43550779		2203	4300	6503	SO:0001583	missense	5429	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.173G>T	6.37:g.43550779G>T	ENSP00000361310:p.Gly58Val		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175943	0.94846	.	.	ENSG00000170734	ENST00000372236;ENST00000372226	D;D	0.94793	-3.52;-3.52	6.17	6.17	0.99709	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.98510	0.9503	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98797	1.0738	10	0.87932	D	0	-8.8694	20.4745	0.99168	0.0:0.0:1.0:0.0	.	58	Q9Y253	POLH_HUMAN	V	58	ENSP00000361310:G58V;ENSP00000361300:G58V	ENSP00000361300:G58V	G	+	2	0	POLH	43658757	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	8.568000	0.90741	2.941000	0.99782	0.655000	0.94253	GGA		0.388	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		T	43550779	G	T	43550779	3	4	155	1	0	0	0	0	1	0	0	0	12204	1174	41	4	179	4	POLH	6	43550779	Missense_Mutation	SNP	G	TCGA-B0-4837-01A-01D-1373-10		43550779	127564288	15	9115											
ZNF292	23036	hgsc.bcm.edu	37	6	87966157	87966157	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr6:87966157T>A	ENST00000369577.3	+	8	2853	c.2810T>A	c.(2809-2811)gTg>gAg	p.V937E	ZNF292_ENST00000339907.4_Missense_Mutation_p.V932E	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	937						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAAGTAGCTGTGTCCATTAAG	0.453																																																0													78	74	75					6																	87966157		1908	4122	6030	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2810T>A	6.37:g.87966157T>A	ENSP00000358590:p.Val937Glu		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	6.209	0.406629	0.11754	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07114	3.22;3.23	5.55	4.18	0.49190	.	0.558633	0.17067	N	0.188334	T	0.02047	0.0064	N	0.19112	0.55	0.32882	D	0.510642	P	0.34462	0.454	B	0.24394	0.053	T	0.44877	-0.9299	10	0.45353	T	0.12	.	12.0058	0.53259	0.0:0.0789:0.0:0.9211	.	937	O60281	ZN292_HUMAN	E	937;932	ENSP00000358590:V937E;ENSP00000342847:V932E	ENSP00000342847:V932E	V	+	2	0	ZNF292	88022876	0.993000	0.37304	1.000000	0.80357	0.986000	0.74619	1.797000	0.38804	2.111000	0.64477	0.482000	0.46254	GTG		0.453	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		A	87966157	T	A	87966157	3	1	155	1	0	0	0	0	1	0	0	0	17831	1696	59	5	2840	5	ZNF292	6	87966157	Missense_Mutation	SNP	T	TCGA-B0-4837-01A-01D-1373-10	44415378	87966157	83148910	16	9116											
IGFBP3	3486	hgsc.bcm.edu	37	7	45957039	45957039	+	Splice_Site	SNP	C	C	G			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr7:45957039C>G	ENST00000275521.6	-	2	537		c.e2-1		IGFBP3_ENST00000381086.5_Splice_Site|IGFBP3_ENST00000465642.1_Splice_Site|IGFBP3_ENST00000381083.4_Splice_Site	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3						apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CTAGCATTTCCTTAAAACGCC	0.498											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													33	35	34					7																	45957039		2203	4300	6503	SO:0001630	splice_region_variant	3486				CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"growth hormone-dependent binding protein", "acid stable subunit of the 140 K IGF complex", "binding protein 53", "binding protein 29", "IGF-binding protein 3"	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.404-1G>C	7.37:g.45957039C>G		935	A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Splice_Site	SNP	ENST00000275521.6	37	CCDS5505.1	.	.	.	.	.	.	.	.	.	.	C	9.608	1.130467	0.21041	.	.	ENSG00000146674	ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7691	0.69662	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGFBP3	45923564	1.000000	0.71417	0.989000	0.46669	0.159000	0.22180	5.629000	0.67798	2.542000	0.85734	0.655000	0.94253	.		0.498	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398	Intron	G	45957039	C	G	45957039	5	3	155	1	0	0	0	0	0	0	1	0	7582	695	24	4	484	4	IGFBP3	7	45957039	Splice_Site	SNP	C	TCGA-B0-4837-01A-01D-1373-10		45957039	113181624	17	9117											
USP17L2	377630	hgsc.bcm.edu	37	8	11995987	11995987	+	Silent	SNP	G	G	A	rs3988861	byFrequency	TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr8:11995987G>A	ENST00000333796.3	-	1	599	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	95	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L95L(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AGGCACTGCAGGGAAGCGTTC	0.567																																																1	Substitution - coding silent(1)	skin(1)											35	42	40					8																	11995987		1440	2909	4349	SO:0001819	synonymous_variant	377630			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.283C>T	8.37:g.11995987G>A				Silent	SNP	ENST00000333796.3	37	CCDS43713.1																																																																																				0.567	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		A	11995987	G	A	11995987	2	1	155	1	0	0	0	0	0	0	0	1	17053	991	35	2		2	USP17L2	8	11995987	Silent	SNP	G	TCGA-B0-4837-01A-01D-1373-10		11995987	134368035	18	9118											
PUF60	22827	hgsc.bcm.edu;ucsc.edu	37	8	144898831	144898831	+	Silent	SNP	G	G	C	rs367957619		TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr8:144898831G>C	ENST00000526683.1	-	12	2094	c.1539C>G	c.(1537-1539)gtC>gtG	p.V513V	PUF60_ENST00000349157.6_Silent_p.V496V|PUF60_ENST00000453551.2_Silent_p.V470V|PUF60_ENST00000527197.1_Silent_p.V467V|SCRIB_ENST00000356994.2_5'Flank|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000456095.2_Silent_p.V484V|PUF60_ENST00000524570.1_5'Flank|PUF60_ENST00000313352.7_Silent_p.V453V|SCRIB_ENST00000320476.3_5'Flank	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	513	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAAAGATCTTGACAATGATTT	0.542																																																0								G	,,	1,4159		0,1,2079	329	347	341		1410,1488,1539	2.2	1	8		341	0,8416		0,0,4208	no	coding-synonymous,coding-synonymous,coding-synonymous	PUF60	NM_001136033.1,NM_014281.3,NM_078480.1	,,	0,1,6287	CC,CG,GG		0.0,0.024,0.0080	,,	470/517,496/543,513/560	144898831	1,12575	2080	4208	6288	SO:0001819	synonymous_variant	22827			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1539C>G	8.37:g.144898831G>C			A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Silent	SNP	ENST00000526683.1	37	CCDS47934.1																																																																																				0.542	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		C	144898831	G	C	144898831	2	2	155	1	0	0	0	0	0	0	0	1	12830	1277	45	4		4	PUF60	8	144898831	Silent	SNP	G	TCGA-B0-4837-01A-01D-1373-10	132902844	144898831	1465191	19	9119											
KIAA2026	158358	hgsc.bcm.edu;ucsc.edu	37	9	5968196	5968196	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr9:5968196T>A	ENST00000399933.3	-	3	2034	c.2035A>T	c.(2035-2037)Aaa>Taa	p.K679*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.K679*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	679	Lys-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GCCCTCATTTTAGTTAGTTTG	0.343																																																0													62	56	58					9																	5968196		1806	4070	5876	SO:0001587	stop_gained	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2035A>T	9.37:g.5968196T>A	ENSP00000382815:p.Lys679*		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Nonsense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	T	37	6.104943	0.97286	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	5.88	5.88	0.94601	.	0.113470	0.36972	U	0.002310	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2851	0.82714	0.0:0.0:0.0:1.0	.	.	.	.	X	679;679;612	.	ENSP00000370870:K679X	K	-	1	0	KIAA2026	5958196	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.897000	0.69831	2.252000	0.74401	0.402000	0.26972	AAA		0.343	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		A	5968196	T	A	5968196	4	1	155	1	0	0	0	0	0	1	0	0	8272	1763	61	5	4300	5	KIAA2026	9	5968196	Nonsense_Mutation	SNP	T	TCGA-B0-4837-01A-01D-1373-10		5968196	135245235	20	9120											
TIMM23	100287932	hgsc.bcm.edu;ucsc.edu	37	10	51592504	51592504	+	Nonstop_Mutation	SNP	T	T	C			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr10:51592504T>C	ENST00000260867.4	-	7	753	c.630A>G	c.(628-630)tgA>tgG	p.*210W	TIMM23_ENST00000485812.1_5'UTR|TIMM23_ENST00000374064.3_Nonstop_Mutation_p.*162W|TIMM23_ENST00000374065.3_Nonstop_Mutation_p.*173W	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			endometrium(1)|large_intestine(1)|pancreas(1)	3						GGCAAAATCTTCAGAGTGACT	0.418																																																0													131	125	127					10																	51592504		2203	4300	6503	SO:0001578	stop_lost	100287932			AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.630A>G	10.37:g.51592504T>C	ENSP00000260867:p.*210Cysext*40		Q53FF8|Q5T1E6|Q6P5S5	Missense_Mutation	SNP	ENST00000260867.4	37	CCDS7238.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152810	0.57259	.	.	ENSG00000138297	ENST00000260867;ENST00000374064;ENST00000374065	.	.	.	5.55	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7274	0.51716	0.0:0.0777:0.0:0.9223	.	.	.	.	W	210;162;173	.	.	X	-	3	0	TIMM23	51262510	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.968000	0.56809	2.326000	0.78906	0.533000	0.62120	TGA		0.418	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048040.1	NM_006327.2		C	51592504	T	C	51592504	4	2	155	1	0	0	0	0	0	0	0	0	15916	1796	62	3	3	3	TIMM23	10	51592504	Nonstop_Mutation	SNP	T	TCGA-B0-4837-01A-01D-1373-10		51592504	83942243	21	9121											
PNLIPRP2	5408	hgsc.bcm.edu	37	10	118383462	118383463	+	RNA	INS	-	-	A	rs56189579|rs201271480|rs200853665		TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr10:118383462_118383463insA	ENST00000298771.7	+	0	81_82				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CCTAGGAAAAGAGTCTGCTACG	0.49																																																0																																												5408			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118383463_118383463dupA			A8K627|Q6IB55	Frame_Shift_Ins	INS	ENST00000298771.7	37																																																																																					0.49	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		A	118383463	-	A	118383462	6	5	155	0	1	1	1	0	0	0	0	0	12153	943	33	0		0	PNLIPRP2	10	118383462	RNA	INS	-	TCGA-B0-4837-01A-01D-1373-10	66790958	118383462	17151285	22	9122											
TRIM22	10346	hgsc.bcm.edu;ucsc.edu	37	11	5717667	5717667	+	Nonsense_Mutation	SNP	C	C	T	rs199731307		TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr11:5717667C>T	ENST00000379965.3	+	2	482	c.205C>T	c.(205-207)Cga>Tga	p.R69*	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	69					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGGGAACCTCCGACCTAATCG	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20783	0.0		0.0	False		,,,				2504	0.001				GBM(104;491 2336 5222)											0								C	stop/ARG,stop/ARG	0,4392		0,0,2196	74	79	77		205,205	-7.9	0	11		77	2,8590	2.2+/-6.3	0,2,4294	yes	stop-gained,stop-gained	TRIM22	NM_001199573.1,NM_006074.4	,	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	,	69/495,69/499	5717667	2,12982	2196	4296	6492	SO:0001587	stop_gained	10346			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.205C>T	11.37:g.5717667C>T	ENSP00000369299:p.Arg69*		Q05CQ0|Q15521	Nonsense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159688	0.94727	0.0	2.33E-4	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000454828;ENST00000414641;ENST00000455293	.	.	.	4.82	-7.95	0.01148	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0002	0.14261	0.4655:0.2625:0.0:0.272	.	.	.	.	X	69	.	ENSP00000369299:R69X	R	+	1	2	TRIM22	5674243	0.000000	0.05858	0.000000	0.03702	0.301000	0.27625	-3.011000	0.00647	-1.941000	0.01042	0.467000	0.42956	CGA		0.522	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		T	5717667	C	T	5717667	4	4	155	1	0	0	0	0	0	1	0	0	16501	644	23	1	207	1	TRIM22	11	5717667	Nonsense_Mutation	SNP	C	TCGA-B0-4837-01A-01D-1373-10		5717667	129288849	23	9123											
FAM160A2	84067	hgsc.bcm.edu	37	11	6239139	6239139	+	Silent	SNP	A	A	G	rs11040809	byFrequency	TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr11:6239139A>G	ENST00000449352.2	-	9	1940	c.1677T>C	c.(1675-1677)cgT>cgC	p.R559R	FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Silent_p.R573R|FAM160A2_ENST00000524416.1_Silent_p.R559R			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	559					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCACACCACGACGTGCCTCAC	0.642													A|||	547	0.109225	0.0106	0.1167	5008	,	,		11293	0.0456		0.2336	False		,,,				2504	0.1748															0								A	,	207,4195	127.0+/-164.0	7,193,2001	65	61	62		1677,1719	1.6	1	11	dbSNP_120	62	2176,6416	366.5+/-334.3	280,1616,2400	no	coding-synonymous,coding-synonymous	FAM160A2	NM_001098794.1,NM_032127.3	,	287,1809,4401	GG,GA,AA		25.3259,4.7024,18.3392	,	559/973,573/987	6239139	2383,10611	2201	4296	6497	SO:0001819	synonymous_variant	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1677T>C	11.37:g.6239139A>G			Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	CCDS44530.1																																																																																				0.642	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		G	6239139	A	G	6239139	2	3	155	1	0	0	0	0	0	0	0	1	5471	262	10	3		3	FAM160A2	11	6239139	Silent	SNP	A	TCGA-B0-4837-01A-01D-1373-10	521472	6239139	128767377	24	9124											
RTN3	10313	hgsc.bcm.edu;ucsc.edu	37	11	63486754	63486754	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr11:63486754A>C	ENST00000377819.5	+	3	934	c.780A>C	c.(778-780)gaA>gaC	p.E260D	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.E241D|RTN3_ENST00000540798.1_Missense_Mutation_p.E148D	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	260					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTGACAAAGAATTTAAAGACT	0.373																																																0													73	76	75					11																	63486754		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.780A>C	11.37:g.63486754A>C	ENSP00000367050:p.Glu260Asp		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752416	0.69533	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.17370	2.28;2.28;2.28	5.98	2.71	0.32032	.	0.247523	0.28409	N	0.015456	T	0.25344	0.0616	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.77557	0.99;0.978;0.99	T	0.01839	-1.1263	10	0.72032	D	0.01	-24.914	6.2132	0.20642	0.4486:0.0:0.5514:0.0	.	148;260;241	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	D	260;241;148	ENSP00000367050:E260D;ENSP00000344106:E241D;ENSP00000442733:E148D	ENSP00000344106:E241D	E	+	3	2	RTN3	63243330	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	0.887000	0.28254	0.192000	0.20272	0.482000	0.46254	GAA		0.373	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		C	63486754	A	C	63486754	3	2	155	1	0	0	0	0	1	0	0	0	13733	98	4	5	790	5	RTN3	11	63486754	Missense_Mutation	SNP	A	TCGA-B0-4837-01A-01D-1373-10	57247615	63486754	71519762	25	9125											
MMP10	4319	hgsc.bcm.edu;ucsc.edu	37	11	102650297	102650297	+	Silent	SNP	G	G	A	rs140654514	byFrequency	TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr11:102650297G>A	ENST00000279441.4	-	2	321	c.285C>T	c.(283-285)gaC>gaT	p.D95D		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	95					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	AGTGACCAACGTCAGGAACTC	0.483													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18750	0.0		0.0	False		,,,				2504	0.0															0								G		3,4403	6.2+/-15.9	0,3,2200	109	89	96		285	-7.6	0	11	dbSNP_134	96	0,8598		0,0,4299	no	coding-synonymous	MMP10	NM_002425.2		0,3,6499	AA,AG,GG		0.0,0.0681,0.0231		95/477	102650297	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	4319			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.285C>T	11.37:g.102650297G>A			B2R9X9|Q53HH9	Silent	SNP	ENST00000279441.4	37	CCDS8321.1																																																																																				0.483	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			A	102650297	G	A	102650297	2	1	155	1	0	0	0	0	0	0	0	1	9651	1136	40	1		1	MMP10	11	102650297	Silent	SNP	G	TCGA-B0-4837-01A-01D-1373-10	39163543	102650297	32356219	26	9126											
SORL1	6653	hgsc.bcm.edu	37	11	121483478	121483478	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr11:121483478T>C	ENST00000260197.7	+	40	5485	c.5356T>C	c.(5356-5358)Ttt>Ctt	p.F1786L	SORL1_ENST00000527934.1_Missense_Mutation_p.F401L|SORL1_ENST00000534286.1_Missense_Mutation_p.F696L|SORL1_ENST00000525532.1_Missense_Mutation_p.F730L|SORL1_ENST00000532694.1_Missense_Mutation_p.F632L	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1786	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTCTGGGCATTTGACACCCA	0.468																																																0													130	102	112					11																	121483478		2202	4299	6501	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5356T>C	11.37:g.121483478T>C	ENSP00000260197:p.Phe1786Leu		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701702	0.68501	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.060398	0.64402	D	0.000003	T	0.52256	0.1723	N	0.14661	0.345	0.58432	D	0.999999	D;P	0.69078	0.997;0.615	D;B	0.70716	0.97;0.219	T	0.58929	-0.7549	10	0.56958	D	0.05	.	15.7457	0.77939	0.0:0.0:0.0:1.0	.	401;1786	E9PKB0;Q92673	.;SORL_HUMAN	L	1786;730;632;696;401	ENSP00000260197:F1786L;ENSP00000434634:F730L;ENSP00000432131:F632L;ENSP00000436447:F696L;ENSP00000435405:F401L	ENSP00000260197:F1786L	F	+	1	0	SORL1	120988688	1.000000	0.71417	0.860000	0.33809	0.868000	0.49771	7.000000	0.76290	2.191000	0.70037	0.533000	0.62120	TTT		0.468	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		C	121483478	T	C	121483478	3	2	155	1	0	0	0	0	1	0	0	0	14940	1493	52	3	5514	3	SORL1	11	121483478	Missense_Mutation	SNP	T	TCGA-B0-4837-01A-01D-1373-10	18833181	121483478	13523038	27	9127											
KIAA1467	57613	hgsc.bcm.edu;ucsc.edu	37	12	13208556	13208556	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr12:13208556C>G	ENST00000197268.8	+	2	229	c.109C>G	c.(109-111)Ctg>Gtg	p.L37V		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	37						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CGAAGACGATCTGGTGCTTAA	0.512																																																0													80	80	80					12																	13208556		2203	4300	6503	SO:0001583	missense	57613			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.109C>G	12.37:g.13208556C>G	ENSP00000197268:p.Leu37Val		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592974	0.66219	.	.	ENSG00000084444	ENST00000197268	T	0.26518	1.73	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	M	0.66939	2.045	0.53005	D	0.999962	D	0.89917	1.0	D	0.87578	0.998	T	0.47381	-0.9122	10	0.46703	T	0.11	-17.1588	19.2345	0.93853	0.0:1.0:0.0:0.0	.	37	A2RU67	K1467_HUMAN	V	37	ENSP00000197268:L37V	ENSP00000197268:L37V	L	+	1	2	KIAA1467	13099823	1.000000	0.71417	0.897000	0.35233	0.366000	0.29705	6.494000	0.73661	2.534000	0.85438	0.650000	0.86243	CTG		0.512	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		G	13208556	C	G	13208556	3	3	155	1	0	0	0	0	1	0	0	0	8237	912	32	4	115	4	KIAA1467	12	13208556	Missense_Mutation	SNP	C	TCGA-B0-4837-01A-01D-1373-10		13208556	120643339	28	9128											
KIAA1467	57613	hgsc.bcm.edu;ucsc.edu	37	12	13224254	13224254	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr12:13224254C>G	ENST00000197268.8	+	10	1568	c.1448C>G	c.(1447-1449)aCc>aGc	p.T483S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	483						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		ACGCCAGCCACCTCAGCAGTT	0.527																																																0													128	120	122					12																	13224254		2203	4300	6503	SO:0001583	missense	57613			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1448C>G	12.37:g.13224254C>G	ENSP00000197268:p.Thr483Ser		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	c	8.717	0.913392	0.17907	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.35048	1.33	5.45	1.48	0.22813	.	0.561062	0.20863	N	0.084310	T	0.20333	0.0489	L	0.41236	1.265	0.24042	N	0.996071	B	0.18610	0.029	B	0.16289	0.015	T	0.20240	-1.0281	10	0.07990	T	0.79	-10.7065	3.8871	0.09103	0.0:0.4793:0.1897:0.331	.	483	A2RU67	K1467_HUMAN	S	483;259	ENSP00000197268:T483S	ENSP00000197268:T483S	T	+	2	0	KIAA1467	13115521	0.768000	0.28519	0.931000	0.37212	0.682000	0.39822	0.865000	0.27940	0.640000	0.30582	0.558000	0.71614	ACC		0.527	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		G	13224254	C	G	13224254	3	3	155	1	0	0	0	0	1	0	0	0	8237	507	18	4	1486	4	KIAA1467	12	13224254	Missense_Mutation	SNP	C	TCGA-B0-4837-01A-01D-1373-10	15698	13224254	120627641	29	9129											
DBX2	440097	hgsc.bcm.edu;ucsc.edu	37	12	45429899	45429899	+	Splice_Site	SNP	T	T	G			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr12:45429899T>G	ENST00000332700.6	-	2	575		c.e2-2			NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.?(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		tggaaggtgctgcagagaaag	0.453																																																1	Unknown(1)	lung(1)											77	83	81					12																	45429899		2203	4300	6503	SO:0001630	splice_region_variant	440097				CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"Homeoboxes / ANTP class : NKL subclass"	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.404-2A>C	12.37:g.45429899T>G				Splice_Site	SNP	ENST00000332700.6	37	CCDS31781.1																																																																																				0.453	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329	Intron	G	45429899	T	G	45429899	5	3	155	1	0	0	0	0	0	0	1	0	4262	1594	55	5	629	5	DBX2	12	45429899	Splice_Site	SNP	T	TCGA-B0-4837-01A-01D-1373-10	32205645	45429899	88421996	30	9130											
ESYT1	23344	hgsc.bcm.edu;ucsc.edu	37	12	56531335	56531335	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr12:56531335G>A	ENST00000394048.5	+	18	2255	c.1991G>A	c.(1990-1992)cGt>cAt	p.R664H	ESYT1_ENST00000267113.4_Missense_Mutation_p.R674H|ESYT1_ENST00000541590.1_Missense_Mutation_p.R674H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	664	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GCCAAAGACCGTTTCTTGGGG	0.542																																																0													162	166	164					12																	56531335		2203	4300	6503	SO:0001583	missense	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1991G>A	12.37:g.56531335G>A	ENSP00000377612:p.Arg664His		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706857	0.89018	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.09723	2.95;2.95;2.95	5.22	4.32	0.51571	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.171239	0.50627	D	0.000111	T	0.19725	0.0474	L	0.51422	1.61	0.42390	D	0.992526	D;D	0.76494	0.998;0.999	P;D	0.64042	0.774;0.921	T	0.00385	-1.1773	10	0.42905	T	0.14	-8.1659	6.2772	0.20987	0.246:0.0:0.754:0.0	.	674;664	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	H	664;618;674;674	ENSP00000377612:R664H;ENSP00000267113:R674H;ENSP00000445952:R674H	ENSP00000267113:R674H	R	+	2	0	ESYT1	54817602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.880000	0.56145	2.608000	0.88229	0.655000	0.94253	CGT		0.542	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		A	56531335	G	A	56531335	3	1	155	1	0	0	0	0	1	0	0	0	5266	1145	40	1	2091	1	ESYT1	12	56531335	Missense_Mutation	SNP	G	TCGA-B0-4837-01A-01D-1373-10	11101436	56531335	77320560	31	9131											
TIMELESS	8914	hgsc.bcm.edu;ucsc.edu	37	12	56814823	56814823	+	Silent	SNP	C	C	G			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr12:56814823C>G	ENST00000553532.1	-	24	3114	c.2964G>C	c.(2962-2964)ggG>ggC	p.G988G	TIMELESS_ENST00000554616.1_Silent_p.G485G|TIMELESS_ENST00000229201.4_Silent_p.G987G					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTCTGAGCCCCCTTCTTCTT	0.488																																																0													131	125	127					12																	56814823		2203	4300	6503	SO:0001819	synonymous_variant	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2964G>C	12.37:g.56814823C>G				Silent	SNP	ENST00000553532.1	37	CCDS8918.1																																																																																				0.488	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		G	56814823	C	G	56814823	2	3	155	1	0	0	0	0	0	0	0	1	15909	610	22	4		4	TIMELESS	12	56814823	Silent	SNP	C	TCGA-B0-4837-01A-01D-1373-10	283488	56814823	77037072	32	9132											
MYH11	4629	hgsc.bcm.edu;ucsc.edu	37	16	15932004	15932004	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr16:15932004C>G	ENST00000300036.5	-	2	215	c.106G>C	c.(106-108)Gtc>Ctc	p.V36L	MYH11_ENST00000396324.3_Missense_Mutation_p.V36L|MYH11_ENST00000576790.2_Missense_Mutation_p.V36L|MYH11_ENST00000452625.2_Missense_Mutation_p.V36L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	36					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGGACCCAGACGAGTCTCTTG	0.572			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													107	108	108					16																	15932004		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.106G>C	16.37:g.15932004C>G	ENSP00000300036:p.Val36Leu		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041683	0.93685	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.82	5.82	0.92795	Myosin, N-terminal, SH3-like (1);	0.000000	0.64402	D	0.000001	D	0.96200	0.8761	M	0.93594	3.435	0.80722	D	1	D;D;D;D;D	0.76494	0.982;0.999;0.999;0.999;0.999	P;D;D;D;D	0.91635	0.708;0.999;0.999;0.999;0.999	D	0.96621	0.9459	10	0.72032	D	0.01	.	19.0811	0.93182	0.0:1.0:0.0:0.0	.	36;36;36;36;36	Q4G140;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	L	36	ENSP00000300036:V36L;ENSP00000345136:V36L;ENSP00000379616:V36L;ENSP00000407821:V36L	ENSP00000300036:V36L	V	-	1	0	MYH11	15839505	1.000000	0.71417	0.989000	0.46669	0.861000	0.49209	7.776000	0.85560	2.756000	0.94617	0.561000	0.74099	GTC		0.572	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		G	15932004	C	G	15932004	3	3	155	1	0	0	0	0	1	0	0	0	10033	536	19	4	6032	4	MYH11	16	15932004	Missense_Mutation	SNP	C	TCGA-B0-4837-01A-01D-1373-10		15932004	74422749	33	9133											
SYT17	51760	hgsc.bcm.edu	37	16	19195087	19195087	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr16:19195087T>G	ENST00000355377.2	+	5	967	c.569T>G	c.(568-570)tTc>tGc	p.F190C	SYT17_ENST00000562034.1_Missense_Mutation_p.F129C|SYT17_ENST00000568115.1_Missense_Mutation_p.F129C|SYT17_ENST00000562711.2_Missense_Mutation_p.F186C	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	190	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ATGCTGCACTTCAGCACTCAG	0.612																																																0													119	97	104					16																	19195087		2197	4300	6497	SO:0001583	missense	51760				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.569T>G	16.37:g.19195087T>G	ENSP00000347538:p.Phe190Cys		O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	t	32	5.187061	0.94923	.	.	ENSG00000103528	ENST00000355377	T	0.09723	2.95	5.38	5.38	0.77491	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.37999	0.1024	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.981;0.989	T	0.38351	-0.9665	10	0.87932	D	0	.	15.3867	0.74706	0.0:0.0:0.0:1.0	.	190;129	Q9BSW7;B4DJB2	SYT17_HUMAN;.	C	190	ENSP00000347538:F190C	ENSP00000347538:F190C	F	+	2	0	SYT17	19102588	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.994000	0.88315	2.026000	0.59711	0.375000	0.23000	TTC		0.612	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		G	19195087	T	G	19195087	3	3	155	1	0	0	0	0	1	0	0	0	15478	1783	62	5	587	5	SYT17	16	19195087	Missense_Mutation	SNP	T	TCGA-B0-4837-01A-01D-1373-10	3263083	19195087	71159666	34	9134											
CDH8	1006	hgsc.bcm.edu;ucsc.edu	37	16	61687743	61687743	+	Missense_Mutation	SNP	T	T	G	rs201669981		TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr16:61687743T>G	ENST00000577390.1	-	12	3123	c.2169A>C	c.(2167-2169)gaA>gaC	p.E723D	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	723					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTATAAATTCATCGACAT	0.448																																																0													94	98	97					16																	61687743		2203	4300	6503	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2169A>C	16.37:g.61687743T>G	ENSP00000462701:p.Glu723Asp		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	T	0.112	-1.137197	0.01742	.	.	ENSG00000150394	ENST00000299345	.	.	.	5.7	2.3	0.28687	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	N	0.01128	-1	0.80722	D	1	B	0.11235	0.004	B	0.15870	0.014	T	0.29336	-1.0015	9	0.02654	T	1	.	8.7095	0.34376	0.0:0.2167:0.0:0.7833	.	723	P55286	CADH8_HUMAN	D	723	.	ENSP00000299345:E723D	E	-	3	2	CDH8	60245244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.752000	0.38349	0.440000	0.26502	-0.264000	0.10439	GAA		0.448	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		G	61687743	T	G	61687743	3	3	155	1	0	0	0	0	1	0	0	0	3118	1490	52	5	234	5	CDH8	16	61687743	Missense_Mutation	SNP	T	TCGA-B0-4837-01A-01D-1373-10	42492656	61687743	28667010	35	9135											
PRPF8	10594	hgsc.bcm.edu	37	17	1584776	1584776	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr17:1584776G>C	ENST00000572621.1	-	5	1127	c.862C>G	c.(862-864)Cta>Gta	p.L288V	PRPF8_ENST00000304992.6_Missense_Mutation_p.L288V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	288					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACTCACTGTAGGTTGATGTCT	0.398																																																0													182	185	184					17																	1584776		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.862C>G	17.37:g.1584776G>C	ENSP00000460348:p.Leu288Val		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	8.553	0.875910	0.17395	.	.	ENSG00000174231	ENST00000304992	T	0.79554	-1.28	5.84	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	N	0.12961	0.28	0.53005	D	0.999961	B	0.02656	0.0	B	0.04013	0.001	T	0.56583	-0.7955	10	0.30854	T	0.27	.	12.0664	0.53590	0.1865:0.0:0.8135:0.0	.	288	Q6P2Q9	PRP8_HUMAN	V	288	ENSP00000304350:L288V	ENSP00000304350:L288V	L	-	1	2	PRPF8	1531526	1.000000	0.71417	0.978000	0.43139	0.485000	0.33311	5.395000	0.66291	0.791000	0.33826	0.650000	0.86243	CTA		0.398	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			C	1584776	G	C	1584776	3	2	155	1	0	0	0	0	1	0	0	0	12580	991	35	4	6297	4	PRPF8	17	1584776	Missense_Mutation	SNP	G	TCGA-B0-4837-01A-01D-1373-10		1584776	79610434	36	9136											
SPEM1	374768	hgsc.bcm.edu;ucsc.edu	37	17	7324560	7324560	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr17:7324560C>T	ENST00000323675.3	+	3	591	c.566C>T	c.(565-567)cCc>cTc	p.P189L	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	189					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GAGGAAAGGCCCCTCAAAACA	0.612																																																0													45	50	49					17																	7324560		1930	4120	6050	SO:0001583	missense	374768			AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.566C>T	17.37:g.7324560C>T	ENSP00000315554:p.Pro189Leu			Missense_Mutation	SNP	ENST00000323675.3	37	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172433	0.78452	.	.	ENSG00000181323	ENST00000323675	.	.	.	5.77	5.77	0.91146	.	0.267510	0.26421	N	0.024475	T	0.54013	0.1832	L	0.34521	1.04	0.22305	N	0.999212	D	0.76494	0.999	D	0.72075	0.976	T	0.50701	-0.8797	9	0.87932	D	0	-11.2291	15.4838	0.75548	0.0:1.0:0.0:0.0	.	189	Q8N4L4	SPEM1_HUMAN	L	189	.	ENSP00000315554:P189L	P	+	2	0	SPEM1	7265284	0.089000	0.21612	0.957000	0.39632	0.037000	0.13140	2.323000	0.43823	2.723000	0.93209	0.655000	0.94253	CCC		0.612	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		T	7324560	C	T	7324560	3	4	155	1	0	0	0	0	1	0	0	0	15042	623	22	2	576	2	SPEM1	17	7324560	Missense_Mutation	SNP	C	TCGA-B0-4837-01A-01D-1373-10	5739784	7324560	73870650	37	9137											
TNS4	84951	hgsc.bcm.edu	37	17	38652467	38652467	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr17:38652467G>T	ENST00000254051.6	-	2	369	c.211C>A	c.(211-213)Cag>Aag	p.Q71K		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	71					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCCTCCACCTGTGGGGCTTGC	0.647																																																0													41	43	43					17																	38652467		2203	4300	6503	SO:0001583	missense	84951			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.211C>A	17.37:g.38652467G>T	ENSP00000254051:p.Gln71Lys		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	G	7.940	0.742630	0.15642	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.17528	2.27	5.43	3.33	0.38152	.	7.203950	0.00166	N	0.000000	T	0.15219	0.0367	L	0.29908	0.895	0.09310	N	1	B	0.19331	0.035	B	0.19946	0.027	T	0.38564	-0.9655	10	0.06099	T	0.92	-6.739	12.596	0.56470	0.0:0.3154:0.6846:0.0	.	71	Q8IZW8	TENS4_HUMAN	K	71	ENSP00000254051:Q71K	ENSP00000254051:Q71K	Q	-	1	0	TNS4	35905993	0.017000	0.18338	0.519000	0.27824	0.163000	0.22366	1.335000	0.33839	1.251000	0.43983	0.637000	0.83480	CAG		0.647	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		T	38652467	G	T	38652467	3	4	155	1	0	0	0	0	1	0	0	0	16350	1386	48	4	1984	4	TNS4	17	38652467	Missense_Mutation	SNP	G	TCGA-B0-4837-01A-01D-1373-10	31327907	38652467	42542743	38	9138											
ABCC3	8714	hgsc.bcm.edu;ucsc.edu	37	17	48765029	48765029	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr17:48765029G>C	ENST00000285238.8	+	30	4493	c.4413G>C	c.(4411-4413)caG>caC	p.Q1471H		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1471	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCCGCACCCAGTTTGATACCT	0.577																																																0													178	131	147					17																	48765029		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.4413G>C	17.37:g.48765029G>C	ENSP00000285238:p.Gln1471His		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704286	0.68615	.	.	ENSG00000108846	ENST00000285238	T	0.77489	-1.1	4.87	2.9	0.33743	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.069338	0.64402	D	0.000011	T	0.56171	0.1967	N	0.00864	-1.135	0.58432	D	0.999998	D	0.56035	0.974	P	0.50617	0.646	T	0.67444	-0.5669	10	0.87932	D	0	-15.8807	9.7672	0.40567	0.2225:0.0:0.7775:0.0	.	1471	O15438	MRP3_HUMAN	H	1471	ENSP00000285238:Q1471H	ENSP00000285238:Q1471H	Q	+	3	2	ABCC3	46120028	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	1.423000	0.34837	0.669000	0.31146	-0.736000	0.03550	CAG		0.577	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		C	48765029	G	C	48765029	3	2	155	1	0	0	0	0	1	0	0	0	54	1020	36	4	4615	4	ABCC3	17	48765029	Missense_Mutation	SNP	G	TCGA-B0-4837-01A-01D-1373-10	10112562	48765029	32430181	39	9139											
FHOD3	80206	hgsc.bcm.edu	37	18	34191947	34191947	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr18:34191947C>G	ENST00000359247.4	+	9	846	c.846C>G	c.(844-846)ttC>ttG	p.F282L	FHOD3_ENST00000590592.1_Missense_Mutation_p.F282L|FHOD3_ENST00000257209.4_Missense_Mutation_p.F282L|FHOD3_ENST00000445677.1_Missense_Mutation_p.F282L|FHOD3_ENST00000591635.1_5'UTR	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	282	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAGACACCTTCTACGACGTCG	0.527																																																0													122	99	107					18																	34191947		2203	4300	6503	SO:0001583	missense	80206			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.846C>G	18.37:g.34191947C>G	ENSP00000352186:p.Phe282Leu		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.550513	0.86127	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	D;D;D	0.83591	-1.74;-1.74;-1.74	5.37	5.37	0.77165	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.053973	0.85682	D	0.000000	D	0.88727	0.6515	M	0.66939	2.045	0.41451	D	0.98798	D;P;D;D	0.71674	0.993;0.952;0.995;0.998	D;P;P;D	0.69654	0.912;0.818;0.659;0.965	D	0.89387	0.3686	10	0.87932	D	0	.	11.5358	0.50636	0.0:0.9171:0.0:0.0829	.	282;282;282;282	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	L	282	ENSP00000257209:F282L;ENSP00000352186:F282L;ENSP00000411430:F282L	ENSP00000257209:F282L	F	+	3	2	FHOD3	32445945	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.035000	0.57297	2.676000	0.91093	0.561000	0.74099	TTC		0.527	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		G	34191947	C	G	34191947	3	3	155	1	0	0	0	0	1	0	0	0	5885	912	32	4	880	4	FHOD3	18	34191947	Missense_Mutation	SNP	C	TCGA-B0-4837-01A-01D-1373-10		34191947	43885301	40	9140											
CCDC68	80323	hgsc.bcm.edu;ucsc.edu	37	18	52610015	52610015	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr18:52610015G>T	ENST00000591504.1	-	3	282	c.8C>A	c.(7-9)aCa>aAa	p.T3K	CCDC68_ENST00000432185.1_Missense_Mutation_p.T3K|CCDC68_ENST00000337363.4_Missense_Mutation_p.T3K	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	3										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		CACTGTCACTGTTGTCATTGT	0.368																																																0													142	130	134					18																	52610015		2203	4300	6503	SO:0001583	missense	80323				CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma associated antigen"					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.8C>A	18.37:g.52610015G>T	ENSP00000466690:p.Thr3Lys		B2R9I3	Missense_Mutation	SNP	ENST00000591504.1	37	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265349	0.59431	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.28069	1.63;1.63	5.36	5.36	0.76844	.	0.248873	0.28630	N	0.014669	T	0.43077	0.1231	M	0.65975	2.015	0.32063	N	0.595457	D	0.56746	0.977	P	0.53593	0.73	T	0.57154	-0.7860	10	0.72032	D	0.01	-2.0577	9.9154	0.41430	0.0896:0.0:0.9104:0.0	.	3	Q9H2F9	CCD68_HUMAN	K	3	ENSP00000337209:T3K;ENSP00000413406:T3K	ENSP00000337209:T3K	T	-	2	0	CCDC68	50761013	0.995000	0.38212	0.993000	0.49108	0.499000	0.33736	3.369000	0.52365	2.779000	0.95612	0.650000	0.86243	ACA		0.368	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214		T	52610015	G	T	52610015	3	4	155	1	0	0	0	0	1	0	0	0	2842	1377	48	4	1039	4	CCDC68	18	52610015	Missense_Mutation	SNP	G	TCGA-B0-4837-01A-01D-1373-10	18418068	52610015	25467233	41	9141											
PRX	57716	hgsc.bcm.edu	37	19	40902613	40902613	+	Missense_Mutation	SNP	G	G	A	rs150582069		TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr19:40902613G>A	ENST00000324001.7	-	7	1916	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	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)		p.E545_P549delEVQLP(1)|p.P549Q(1)		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)			TGACACTTTCGGCAGCTGTAC	0.577													g|||	1	0.000199681	0.0	0.0	5008	,	,		16952	0.001		0.0	False		,,,				2504	0.0															2	Substitution - Missense(1)|Deletion - In frame(1)	breast(1)|kidney(1)											88	101	96					19																	40902613		2202	4297	6499	SO:0001583	missense	57716			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.1646C>T	19.37:g.40902613G>A	ENSP00000326018:p.Pro549Leu		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	g	4.883	0.164188	0.09287	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.03580	3.88	4.14	3.11	0.35812	.	.	.	.	.	T	0.05502	0.0145	M	0.77820	2.39	0.09310	N	0.999996	P	0.40332	0.713	B	0.30401	0.115	T	0.29640	-1.0005	9	0.66056	D	0.02	-6.8118	7.829	0.29332	0.1975:0.0:0.8025:0.0	.	549	Q9BXM0	PRAX_HUMAN	L	549	ENSP00000326018:P549L	ENSP00000326018:P549L	P	-	2	0	PRX	45594453	0.005000	0.15991	0.169000	0.22859	0.015000	0.08874	0.659000	0.24994	0.962000	0.38057	-0.185000	0.12909	CCG		0.577	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		A	40902613	G	A	40902613	3	1	155	1	0	0	0	0	1	0	0	0	12647	1116	39	1	2743	1	PRX	19	40902613	Missense_Mutation	SNP	G	TCGA-B0-4837-01A-01D-1373-10		40902613	18226370	42	9142											
C20orf26	26074	hgsc.bcm.edu	37	20	20140084	20140084	+	Missense_Mutation	SNP	C	C	G	rs201733475	byFrequency	TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chr20:20140084C>G	ENST00000245957.5	+	10	1098	c.1022C>G	c.(1021-1023)cCg>cGg	p.P341R	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.P341R|C20orf26_ENST00000377306.1_Missense_Mutation_p.P341R	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		341										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTTAGTGAACCGGAGGTAGGG	0.483																																																0													139	105	116					20																	20140084		2203	4300	6503	SO:0001583	missense	26074																														ENST00000245957.5:c.1022C>G	20.37:g.20140084C>G	ENSP00000245957:p.Pro341Arg		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	4.378	0.069693	0.08436	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000442372;ENST00000377297	T;T;T	0.07688	3.17;3.17;3.17	3.82	-5.09	0.02920	.	1.875700	0.02171	N	0.059707	T	0.06508	0.0167	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.003;0.0	T	0.35549	-0.9784	10	0.16420	T	0.52	.	6.2679	0.20939	0.0:0.3581:0.1327:0.5092	.	341;341;296;341	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	R	296;341;341;341;341;341;100;133	ENSP00000245957:P341R;ENSP00000366521:P341R;ENSP00000414537:P341R	ENSP00000245957:P341R	P	+	2	0	C20orf26	20088084	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.361000	0.07612	-1.086000	0.03084	-1.615000	0.00797	CCG		0.483	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			G	20140084	C	G	20140084	3	3	155	1	0	0	0	0	1	0	0	0	2108	652	23	4	1056	4	C20orf26	20	20140084	Missense_Mutation	SNP	C	TCGA-B0-4837-01A-01D-1373-10		20140084	42885436	43	9143											
KDM5C	8242	ucsc.edu	37	X	53222653	53222656	+	Frame_Shift_Del	DEL	GGCT	GGCT	-			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	GGCT	GGCT	GGCT	-	GGCT	GGCT	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chrX:53222653_53222656delGGCT	ENST00000375401.3	-	25	4812_4815	c.4280_4283delAGCC	c.(4279-4284)cagcccfs	p.QP1427fs	KDM5C_ENST00000375379.3_Frame_Shift_Del_p.QP1424fs|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.QP1383fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.QP1426fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1427					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CAGGTCTGGGGGCTGTCCAGCCTG	0.657			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0																																										SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4280_4283delAGCC	X.37:g.53222653_53222656delGGCT	ENSP00000364550:p.Gln1427fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.657	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		-	53222656	GGCT	-	53222653	7	5	155	1	0	1	0	1	0	0	0	0	8137	1232	43	0	505	0	KDM5C	23	53222653	Frame_Shift_Del	DEL	GGCT	TCGA-B0-4837-01A-01D-1373-10		53222653	102047907	44	9144											
HUWE1	10075	hgsc.bcm.edu	37	X	53579772	53579772	+	Silent	SNP	T	T	A			TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chrX:53579772T>A	ENST00000342160.3	-	61	9034	c.8577A>T	c.(8575-8577)acA>acT	p.T2859T	HUWE1_ENST00000262854.6_Silent_p.T2859T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2859					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCAGGCTGCTTGTATCCATAG	0.567																																																0													47	42	44					X																	53579772		2203	4300	6503	SO:0001819	synonymous_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8577A>T	X.37:g.53579772T>A			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.255649	0.22965	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.88	2.16	0.27623	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8669	0.18781	0.2303:0.0:0.6307:0.139	.	.	.	.	X	1893	.	.	K	-	1	0	HUWE1	53596497	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.154000	0.42291	0.251000	0.21505	-0.223000	0.12442	AAG		0.567	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53579772	T	A	53579772	2	1	155	1	0	0	0	0	0	0	0	1	7463	1799	63	5		5	HUWE1	23	53579772	Silent	SNP	T	TCGA-B0-4837-01A-01D-1373-10	357119	53579772	101690788	45	9145											
OGT	8473	hgsc.bcm.edu	37	X	70775921	70775921	+	Missense_Mutation	SNP	C	C	A	rs267606503		TCGA-B0-4837-01A-01D-1373-10	TCGA-B0-4837-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	078b4a67-3a8a-40f4-928c-768fa3c91450	05cbbbd4-67af-4685-b4d8-80ebe715333c	g.chrX:70775921C>A	ENST00000373719.3	+	8	1259	c.1042C>A	c.(1042-1044)Cgc>Agc	p.R348S	OGT_ENST00000373701.3_Missense_Mutation_p.R338S	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	348					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGAGGCAGTTCGCTTGTATCG	0.438																																																0													158	122	134					X																	70775921		2203	4300	6503	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1042C>A	X.37:g.70775921C>A	ENSP00000362824:p.Arg348Ser		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313550	0.40996	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.59502	0.26;0.26	5.16	5.16	0.70880	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.050374	0.85682	D	0.000000	T	0.53190	0.1781	L	0.56396	1.775	0.80722	D	1	B;B;B	0.31817	0.341;0.034;0.271	B;B;B	0.36666	0.142;0.028;0.23	T	0.47341	-0.9125	10	0.08837	T	0.75	-2.2586	13.4978	0.61436	0.1563:0.8437:0.0:0.0	.	222;338;348	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	S	348;338	ENSP00000362824:R348S;ENSP00000362805:R338S	ENSP00000362805:R338S	R	+	1	0	OGT	70692646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.783000	0.68982	2.385000	0.81259	0.600000	0.82982	CGC		0.438	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		A	70775921	C	A	70775921	3	1	155	1	0	0	0	0	1	0	0	0	10849	884	31	4	1072	4	OGT	23	70775921	Missense_Mutation	SNP	C	TCGA-B0-4837-01A-01D-1373-10	17196149	70775921	84494639	46	9146											
NDUFS2	4720	hgsc.bcm.edu;ucsc.edu	37	1	161183209	161183209	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr1:161183209A>C	ENST00000367993.3	+	12	1604	c.1156A>C	c.(1156-1158)Act>Cct	p.T386P	NDUFS2_ENST00000392179.4_Missense_Mutation_p.T386P|NDUFS2_ENST00000465923.1_3'UTR|FCER1G_ENST00000367992.3_5'Flank|FCER1G_ENST00000289902.1_5'Flank	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	386					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TAAGTTGTATACTGAGGGCTA	0.468																																																0													74	67	70					1																	161183209		2203	4300	6503	SO:0001583	missense	4720			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7708	protein-coding gene	gene with protein product	"complex I 49kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"	602985	"NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.1156A>C	1.37:g.161183209A>C	ENSP00000356972:p.Thr386Pro		D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.823693	0.90873	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	D;D	0.86366	-2.11;-2.11	5.53	5.53	0.82687	NADH-quinone oxidoreductase, subunit D (1);	0.103999	0.64402	D	0.000004	D	0.93327	0.7873	M	0.89478	3.035	0.53005	D	0.999966	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.74674	0.976;0.984;0.984	D	0.94538	0.7742	9	0.87932	D	0	.	14.7802	0.69760	1.0:0.0:0.0:0.0	.	335;386;386	B7Z792;Q53HG2;O75306	.;.;NDUS2_HUMAN	P	386	ENSP00000356972:T386P;ENSP00000376018:T386P	ENSP00000356972:T386P	T	+	1	0	NDUFS2	159449833	1.000000	0.71417	0.486000	0.27416	0.971000	0.66376	8.200000	0.89733	2.324000	0.78689	0.533000	0.62120	ACT		0.468	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		C	161183209	A	C	161183209	3	2	156	1	0	0	0	0	1	0	0	0	10294	391	14	5	1198	5	NDUFS2	1	161183209	Missense_Mutation	SNP	A	TCGA-B0-4838-01A-01D-1373-10		161183209	88067412	1	9147											
BAT2L2	23215	hgsc.bcm.edu;ucsc.edu	37	1	171553099	171553099	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr1:171553099C>G	ENST00000338920.4	+	29	7645	c.7408C>G	c.(7408-7410)Cag>Gag	p.Q2470E	PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q2472E|PRRC2C_ENST00000367742.3_Missense_Mutation_p.Q2472E|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q2405E	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2470	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ATGTAGATCTCAGCCAGCTTT	0.378																																																0													92	85	88					1																	171553099		2203	4300	6503	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7408C>G	1.37:g.171553099C>G	ENSP00000343629:p.Gln2470Glu		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154490	0.57259	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.03496	3.91;3.94;3.93;3.93	5.98	5.98	0.97165	.	0.000000	0.44688	D	0.000435	T	0.12518	0.0304	L	0.61218	1.895	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.00704	-1.1602	10	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	2470	Q9Y520-4	.	E	2472;2424;2405;2472;2470;2227	ENSP00000375928:Q2472E;ENSP00000410219:Q2405E;ENSP00000356716:Q2472E;ENSP00000343629:Q2470E	ENSP00000343629:Q2470E	Q	+	1	0	PRRC2C	169819723	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.194000	0.77789	2.835000	0.97688	0.650000	0.86243	CAG		0.378	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		G	171553099	C	G	171553099	3	3	156	1	0	0	0	0	1	0	0	0	1321	827	29	4	7518	4	BAT2L2	1	171553099	Missense_Mutation	SNP	C	TCGA-B0-4838-01A-01D-1373-10	10369890	171553099	77697522	2	9148											
LYPLAL1	127018	hgsc.bcm.edu	37	1	219347283	219347283	+	Silent	SNP	A	A	G			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr1:219347283A>G	ENST00000366928.5	+	1	98	c.51A>G	c.(49-51)gcA>gcG	p.A17A	RP11-135J2.4_ENST00000441331.1_RNA|LYPLAL1_ENST00000366927.3_Silent_p.A17A|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	17					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGTCGCCGGCAGGGAGGCATA	0.612																																																0													83	74	77					1																	219347283		2203	4300	6503	SO:0001819	synonymous_variant	127018			BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.51A>G	1.37:g.219347283A>G			A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Silent	SNP	ENST00000366928.5	37	CCDS1522.1																																																																																				0.612	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		G	219347283	A	G	219347283	2	3	156	1	0	0	0	0	0	0	0	1	9120	175	7	3		3	LYPLAL1	1	219347283	Silent	SNP	A	TCGA-B0-4838-01A-01D-1373-10	47794184	219347283	29903338	3	9149											
EPRS	2058	hgsc.bcm.edu;ucsc.edu	37	1	220153534	220153534	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr1:220153534C>T	ENST00000366923.3	-	26	3873	c.3604G>A	c.(3604-3606)Gca>Aca	p.A1202T		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1202	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ACAGGAATTGCCAGGAGTTCT	0.343																																																0													132	124	127					1																	220153534		2203	4300	6503	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3604G>A	1.37:g.220153534C>T	ENSP00000355890:p.Ala1202Thr		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	36	5.844362	0.97016	.	.	ENSG00000136628	ENST00000366923	T	0.67865	-0.29	5.96	5.96	0.96718	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.046152	0.85682	D	0.000000	D	0.90283	0.6961	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93418	0.6774	10	0.87932	D	0	-24.6693	20.422	0.99049	0.0:1.0:0.0:0.0	.	1202	P07814	SYEP_HUMAN	T	1202	ENSP00000355890:A1202T	ENSP00000355890:A1202T	A	-	1	0	EPRS	218220157	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.807000	0.86032	2.832000	0.97577	0.655000	0.94253	GCA		0.343	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		T	220153534	C	T	220153534	3	4	156	1	0	0	0	0	1	0	0	0	5193	739	26	2	962	2	EPRS	1	220153534	Missense_Mutation	SNP	C	TCGA-B0-4838-01A-01D-1373-10	806251	220153534	29097087	4	9150											
SIPA1L2	57568	hgsc.bcm.edu;ucsc.edu	37	1	232600814	232600814	+	Missense_Mutation	SNP	G	G	C	rs376260317		TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr1:232600814G>C	ENST00000366630.1	-	8	2950	c.2592C>G	c.(2590-2592)ttC>ttG	p.F864L	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.F864L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	864					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGACTGGCCGAAGTCCCGGG	0.473																																																0													103	102	102					1																	232600814		1968	4146	6114	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2592C>G	1.37:g.232600814G>C	ENSP00000355589:p.Phe864Leu		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913193	0.52439	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.43688	0.94;0.94	6.06	-2.08	0.07254	.	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.55990	1.75	0.43430	D	0.995599	P	0.48589	0.912	P	0.49752	0.621	T	0.31724	-0.9933	10	0.26408	T	0.33	-24.3418	11.6055	0.51029	0.5504:0.0:0.4496:0.0	.	864	Q9P2F8	SI1L2_HUMAN	L	864	ENSP00000355589:F864L;ENSP00000262861:F864L	ENSP00000262861:F864L	F	-	3	2	SIPA1L2	230667437	0.079000	0.21365	0.992000	0.48379	0.923000	0.55619	-0.364000	0.07583	-0.343000	0.08351	-0.142000	0.14014	TTC		0.473	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		C	232600814	G	C	232600814	3	2	156	1	0	0	0	0	1	0	0	0	14336	1049	37	4	2636	4	SIPA1L2	1	232600814	Missense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10	12447280	232600814	16649807	5	9151											
TANC1	85461	hgsc.bcm.edu;ucsc.edu	37	2	159992709	159992709	+	Silent	SNP	C	C	G	rs375201296	byFrequency	TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr2:159992709C>G	ENST00000263635.6	+	5	501	c.264C>G	c.(262-264)ccC>ccG	p.P88P	TANC1_ENST00000454300.1_Silent_p.P88P	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	88					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.P88P(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTACAGGTCCCGTCAGGAAGC	0.483																																																2	Substitution - coding silent(2)	lung(2)											140	144	143					2																	159992709		1921	4127	6048	SO:0001819	synonymous_variant	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.264C>G	2.37:g.159992709C>G			C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	CCDS42766.1																																																																																				0.483	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			G	159992709	C	G	159992709	2	3	156	1	0	0	0	0	0	0	0	1	15549	639	23	4		4	TANC1	2	159992709	Silent	SNP	C	TCGA-B0-4838-01A-01D-1373-10		159992709	83206664	6	9152											
LTF	4057	hgsc.bcm.edu	37	3	46479585	46479585	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr3:46479585G>T	ENST00000231751.4	-	16	2239	c.1944C>A	c.(1942-1944)gaC>gaA	p.D648E	LTF_ENST00000426532.2_Missense_Mutation_p.D604E|LTF_ENST00000493056.1_5'UTR|LTF_ENST00000417439.1_Missense_Mutation_p.D646E	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	648	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		AGCAAAACTTGTCCGGGCAGT	0.418																																																0													135	137	136					3																	46479585		2203	4300	6503	SO:0001583	missense	4057				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1944C>A	3.37:g.46479585G>T	ENSP00000231751:p.Asp648Glu		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	g	4.562	0.104290	0.08731	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	5.1	-3.59	0.04583	.	1.206060	0.05621	N	0.579881	T	0.03739	0.0106	N	0.25031	0.7	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.45366	-0.9266	10	0.23302	T	0.38	-2.5142	2.7529	0.05286	0.1822:0.4364:0.2116:0.1698	.	646;635;648	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	E	648;604;646;635	ENSP00000231751:D648E;ENSP00000405719:D604E;ENSP00000405546:D646E;ENSP00000397427:D635E	ENSP00000231751:D648E	D	-	3	2	LTF	46454589	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.473000	0.06615	-0.445000	0.07159	-0.127000	0.14921	GAC		0.418	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		T	46479585	G	T	46479585	3	4	156	1	0	0	0	0	1	0	0	0	9081	1368	48	4	196	4	LTF	3	46479585	Missense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10		46479585	151542845	7	9153											
PPP2R3A	5523	hgsc.bcm.edu;ucsc.edu	37	3	135820908	135820908	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr3:135820908A>T	ENST00000264977.3	+	11	3604	c.2987A>T	c.(2986-2988)gAg>gTg	p.E996V	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E260V|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E375V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	996	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCATGTATGAGCTGGAGTAC	0.473																																																0													194	165	174					3																	135820908		2203	4300	6503	SO:0001583	missense	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2987A>T	3.37:g.135820908A>T	ENSP00000264977:p.Glu996Val		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.746494	0.89663	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	D;D;D	0.86865	-2.18;-2.18;-2.18	5.34	5.34	0.76211	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96963	0.9703	10	0.66056	D	0.02	.	14.7926	0.69854	1.0:0.0:0.0:0.0	.	375;996	Q06190-2;Q06190	.;P2R3A_HUMAN	V	996;260;375	ENSP00000264977:E996V;ENSP00000419344:E260V;ENSP00000334748:E375V	ENSP00000264977:E996V	E	+	2	0	PPP2R3A	137303598	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.287000	0.95975	2.131000	0.65755	0.460000	0.39030	GAG		0.473	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		T	135820908	A	T	135820908	3	4	156	1	0	0	0	0	1	0	0	0	12393	304	11	5	3161	5	PPP2R3A	3	135820908	Missense_Mutation	SNP	A	TCGA-B0-4838-01A-01D-1373-10	89341323	135820908	62201522	8	9154											
SPOCK1	6695	hgsc.bcm.edu	37	5	136403473	136403473	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr5:136403473T>A	ENST00000394945.1	-	6	689	c.520A>T	c.(520-522)Acc>Tcc	p.T174S	SPOCK1_ENST00000282223.7_Missense_Mutation_p.T174S	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	174	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCACAGAGGGTGGCGAGGCTT	0.522																																																0													157	141	146					5																	136403473		2203	4300	6503	SO:0001583	missense	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.520A>T	5.37:g.136403473T>A	ENSP00000378401:p.Thr174Ser		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.224357	0.39300	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000510689	T;T;T	0.04156	3.69;3.69;3.69	5.29	1.56	0.23342	Proteinase inhibitor I1, Kazal (1);EF-hand-like domain (1);Protease inhibitor, Kazal-type (1);	0.539797	0.20296	N	0.095138	T	0.03827	0.0108	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.37957	-0.9683	10	0.46703	T	0.11	.	3.5743	0.07929	0.1708:0.1815:0.0:0.6478	.	174	Q08629	TICN1_HUMAN	S	174;174;29	ENSP00000378401:T174S;ENSP00000282223:T174S;ENSP00000421677:T29S	ENSP00000282223:T174S	T	-	1	0	SPOCK1	136431372	0.644000	0.27277	0.764000	0.31436	0.905000	0.53344	0.644000	0.24766	0.307000	0.22880	0.459000	0.35465	ACC		0.522	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		A	136403473	T	A	136403473	3	1	156	1	0	0	0	0	1	0	0	0	15084	1696	59	5	823	5	SPOCK1	5	136403473	Missense_Mutation	SNP	T	TCGA-B0-4838-01A-01D-1373-10		136403473	44511787	9	9155											
FAM13B	51306	hgsc.bcm.edu;ucsc.edu	37	5	137347568	137347568	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr5:137347568T>G	ENST00000033079.3	-	5	888	c.437A>C	c.(436-438)aAt>aCt	p.N146T	FAM13B_ENST00000420893.2_Missense_Mutation_p.N146T|FAM13B_ENST00000425075.2_Missense_Mutation_p.N28T	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	146	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						CAAACTATAATTAACAGGTGG	0.323																																																0													48	51	50					5																	137347568		2203	4300	6503	SO:0001583	missense	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.437A>C	5.37:g.137347568T>G	ENSP00000033079:p.Asn146Thr		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.538722	0.85917	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.54675	0.56;1.53;0.56	5.52	5.52	0.82312	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.73458	0.3589	M	0.79123	2.44	0.80722	D	1	P;D;D	0.76494	0.747;0.998;0.999	P;D;D	0.85130	0.479;0.995;0.997	T	0.77525	-0.2555	10	0.87932	D	0	-17.0208	15.655	0.77126	0.0:0.0:0.0:1.0	.	28;146;146	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	T	146;28;146	ENSP00000033079:N146T;ENSP00000394669:N28T;ENSP00000388521:N146T	ENSP00000033079:N146T	N	-	2	0	FAM13B	137375467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.491000	0.81471	2.106000	0.64143	0.519000	0.50382	AAT		0.323	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			G	137347568	T	G	137347568	3	3	156	1	0	0	0	0	1	0	0	0	5455	1493	52	5	2456	5	FAM13B	5	137347568	Missense_Mutation	SNP	T	TCGA-B0-4838-01A-01D-1373-10	944095	137347568	43567692	10	9156											
SLC36A1	206358	hgsc.bcm.edu	37	5	150847285	150847285	+	Missense_Mutation	SNP	T	T	A	rs144783326		TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr5:150847285T>A	ENST00000243389.3	+	7	745	c.522T>A	c.(520-522)aaT>aaA	p.N174K	SLC36A1_ENST00000429484.2_Missense_Mutation_p.N174K|SLC36A1_ENST00000521925.1_Missense_Mutation_p.N174K|SLC36A1_ENST00000520701.1_Missense_Mutation_p.N174K	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	174					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	AAGCGGCCAATGGGACCACCA	0.537																																					Melanoma(151;1534 1860 12947 32979 37872)											0													200	185	190					5																	150847285		2203	4300	6503	SO:0001583	missense	206358			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.522T>A	5.37:g.150847285T>A	ENSP00000243389:p.Asn174Lys		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659715	0.67586	.	.	ENSG00000123643	ENST00000520701;ENST00000429484;ENST00000243389;ENST00000456739;ENST00000521925	T;T;T;T	0.02258	4.37;4.37;4.37;4.37	5.39	-7.09	0.01553	.	0.000000	0.85682	D	0.000000	T	0.04861	0.0131	L	0.37697	1.125	0.45307	D	0.998307	P;D	0.67145	0.891;0.996	P;D	0.67382	0.544;0.951	T	0.00091	-1.2084	10	0.29301	T	0.29	.	17.251	0.87042	0.0:0.6044:0.0:0.3956	.	174;174	E7EW39;Q7Z2H8	.;S36A1_HUMAN	K	174	ENSP00000428140:N174K;ENSP00000395640:N174K;ENSP00000243389:N174K;ENSP00000430305:N174K	ENSP00000243389:N174K	N	+	3	2	SLC36A1	150827478	0.058000	0.20735	0.852000	0.33557	0.910000	0.53928	-0.664000	0.05292	-1.310000	0.02312	-0.994000	0.02522	AAT		0.537	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		A	150847285	T	A	150847285	3	1	156	1	0	0	0	0	1	0	0	0	14599	1461	51	5	544	5	SLC36A1	5	150847285	Missense_Mutation	SNP	T	TCGA-B0-4838-01A-01D-1373-10	13499717	150847285	30067975	11	9157											
CACNA2D1	781	hgsc.bcm.edu;ucsc.edu	37	7	81594953	81594953	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr7:81594953C>T	ENST00000356253.5	-	32	2822	c.2567G>A	c.(2566-2568)gGt>gAt	p.G856D	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.G56D|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G844D			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	856					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AAGAAACCCACCATCATCCAG	0.373																																																0													155	138	144					7																	81594953		2203	4300	6503	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2567G>A	7.37:g.81594953C>T	ENSP00000348589:p.Gly856Asp		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.378696	0.82682	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	D;D;D	0.86230	-2.09;-2.09;-2.09	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.93687	0.7983	M	0.83012	2.62	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.988	D	0.92674	0.6152	10	0.33141	T	0.24	-21.2313	18.672	0.91514	0.0:1.0:0.0:0.0	.	56;844	B7Z658;P54289-2	.;.	D	844;863;856;56	ENSP00000349320:G844D;ENSP00000348589:G856D;ENSP00000443124:G56D	ENSP00000284088:G863D	G	-	2	0	CACNA2D1	81432889	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.295000	0.78780	2.407000	0.81776	0.591000	0.81541	GGT		0.373	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81594953	C	T	81594953	3	4	156	1	0	0	0	0	1	0	0	0	2550	507	18	2	776	2	CACNA2D1	7	81594953	Missense_Mutation	SNP	C	TCGA-B0-4838-01A-01D-1373-10		81594953	77543710	12	9158											
SYPL1	6856	hgsc.bcm.edu;ucsc.edu	37	7	105739686	105739686	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr7:105739686C>T	ENST00000011473.2	-	3	212	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	SYPL1_ENST00000470347.1_Missense_Mutation_p.G38S|SYPL1_ENST00000455385.2_Missense_Mutation_p.G38S	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	56	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						TCTGTTTGGCCCTTAAAACCT	0.338																																																0													82	80	81					7																	105739686		2203	4300	6503	SO:0001583	missense	6856				CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"synaptophysin-like protein"	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.166G>A	7.37:g.105739686C>T	ENSP00000011473:p.Gly56Ser		A4D0R2|Q96AR8	Missense_Mutation	SNP	ENST00000011473.2	37	CCDS5736.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765473	0.90020	.	.	ENSG00000008282	ENST00000455385;ENST00000011473;ENST00000470347	T;T;T	0.26373	1.74;1.74;1.74	4.97	4.97	0.65823	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.56938	-0.7896	10	0.62326	D	0.03	1.5793	17.3596	0.87346	0.0:1.0:0.0:0.0	.	56	Q16563	SYPL1_HUMAN	S	38;56;38	ENSP00000388336:G38S;ENSP00000011473:G56S;ENSP00000419070:G38S	ENSP00000011473:G56S	G	-	1	0	SYPL1	105526922	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.915000	0.69973	2.475000	0.83589	0.460000	0.39030	GGC		0.338	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1			T	105739686	C	T	105739686	3	4	156	1	0	0	0	0	1	0	0	0	15467	623	22	2	629	2	SYPL1	7	105739686	Missense_Mutation	SNP	C	TCGA-B0-4838-01A-01D-1373-10	24144733	105739686	53398977	13	9159											
PPP1R3A	5506	hgsc.bcm.edu	37	7	113518387	113518387	+	Silent	SNP	A	A	G			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr7:113518387A>G	ENST00000284601.3	-	4	2828	c.2760T>C	c.(2758-2760)caT>caC	p.H920H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	920					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAATTTCAGTATGATGTTTGG	0.373																																																0													100	101	100					7																	113518387		2203	4299	6502	SO:0001819	synonymous_variant	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2760T>C	7.37:g.113518387A>G			A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	CCDS5759.1																																																																																				0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		G	113518387	A	G	113518387	2	3	156	1	0	0	0	0	0	0	0	1	12376	446	16	3		3	PPP1R3A	7	113518387	Silent	SNP	A	TCGA-B0-4838-01A-01D-1373-10	7778701	113518387	45620276	14	9160											
CLEC5A	23601	hgsc.bcm.edu;ucsc.edu	37	7	141635627	141635627	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr7:141635627G>A	ENST00000546910.1	-	5	528	c.332C>T	c.(331-333)aCg>aTg	p.T111M	CLEC5A_ENST00000438351.1_Missense_Mutation_p.T88M|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.T88M	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	111	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TTTCTCTGGCGTGTTGACAAT	0.463																																					GBM(154;1592 2613 3360 42983)											0													168	141	150					7																	141635627		2203	4300	6503	SO:0001583	missense	23601				CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"C-type lectin domain containing"	2054	protein-coding gene	gene with protein product		604987	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.332C>T	7.37:g.141635627G>A	ENSP00000449999:p.Thr111Met		Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297552	0.40694	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000438351	T;T;T	0.19532	2.14;2.14;2.14	4.75	2.74	0.32292	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.265559	0.27591	N	0.018681	T	0.43765	0.1262	M	0.84326	2.69	0.31889	N	0.617457	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.966;0.958;0.975	T	0.53662	-0.8407	10	0.87932	D	0	-11.5498	7.2545	0.26168	0.0:0.1884:0.617:0.1947	.	88;88;111;111	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	M	111;88;88	ENSP00000449999:T111M;ENSP00000446890:T88M;ENSP00000414897:T88M	ENSP00000265306:T111M	T	-	2	0	CLEC5A	141282096	0.846000	0.29590	0.860000	0.33809	0.584000	0.36387	0.984000	0.29565	1.302000	0.44855	0.549000	0.68633	ACG		0.463	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252		A	141635627	G	A	141635627	3	1	156	1	0	0	0	0	1	0	0	0	3521	1145	40	1	246	1	CLEC5A	7	141635627	Missense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10	28117240	141635627	17503036	15	9161											
FGF20	26281	hgsc.bcm.edu;ucsc.edu	37	8	16850793	16850793	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr8:16850793G>C	ENST00000180166.5	-	3	572	c.424C>G	c.(424-426)Cag>Gag	p.Q142E		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	142					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCTTCAAACTGCTCCCTAAAG	0.353																																																0													134	137	136					8																	16850793		2203	4300	6503	SO:0001583	missense	26281			AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.424C>G	8.37:g.16850793G>C	ENSP00000180166:p.Gln142Glu		B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	37	CCDS5998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.35|16.35	3.098579|3.098579	0.56183|0.56183	.|.	.|.	ENSG00000078579|ENSG00000078579	ENST00000519941|ENST00000180166	.|T	.|0.80566	.|-1.39	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77082|0.77082	0.4078|0.4078	L|L	0.39566|0.39566	1.225|1.225	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.19706	.|0.038	.|B	.|0.20384	.|0.029	T|T	0.69359|0.69359	-0.5166|-0.5166	5|10	.|0.40728	.|T	.|0.16	.|.	20.5471|20.5471	0.99284|0.99284	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|142	.|Q9NP95	.|FGF20_HUMAN	G|E	43|142	.|ENSP00000180166:Q142E	.|ENSP00000180166:Q142E	A|Q	-|-	2|1	0|0	FGF20|FGF20	16895164|16895164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	7.928000|7.928000	0.87587|0.87587	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.353	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1			C	16850793	G	C	16850793	3	2	156	1	0	0	0	0	1	0	0	0	5851	1328	46	4	215	4	FGF20	8	16850793	Missense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10		16850793	129513229	16	9162											
CCDC107	203260	hgsc.bcm.edu	37	9	35660625	35660625	+	Silent	SNP	C	C	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr9:35660625C>T	ENST00000426546.2	+	4	457	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000421582.2_3'UTR|RMRP_ENST00000602361.1_lincRNA|CCDC107_ENST00000327351.2_Silent_p.L131L|ARHGEF39_ENST00000490970.1_5'Flank|CCDC107_ENST00000378407.3_Silent_p.L131L|CCDC107_ENST00000378406.1_Silent_p.L131L|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378409.3_Silent_p.L131L|ARHGEF39_ENST00000378395.2_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	131						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATGGCCCAGCTGGACCCCCT	0.547																																																0													70	75	74					9																	35660625		2203	4300	6503	SO:0001819	synonymous_variant	203260			AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.391C>T	9.37:g.35660625C>T			A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Silent	SNP	ENST00000426546.2	37	CCDS6583.1																																																																																				0.547	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		T	35660625	C	T	35660625	2	4	156	1	0	0	0	0	0	0	0	1	2744	796	28	2		2	CCDC107	9	35660625	Silent	SNP	C	TCGA-B0-4838-01A-01D-1373-10		35660625	105552806	17	9163											
NAA35	60560	hgsc.bcm.edu;ucsc.edu	37	9	88631485	88631485	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr9:88631485A>G	ENST00000361671.5	+	18	1733	c.1600A>G	c.(1600-1602)Atg>Gtg	p.M534V		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	534					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CGCATGGTTGATGTCAACATT	0.363																																																0													115	107	110					9																	88631485		2203	4300	6503	SO:0001583	missense	60560			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1600A>G	9.37:g.88631485A>G	ENSP00000354972:p.Met534Val		Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	A	6.275	0.418909	0.11870	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	N	0.00332	-1.63	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.25984	-1.0116	9	0.11485	T	0.65	-14.7879	15.4186	0.74991	1.0:0.0:0.0:0.0	.	534	Q5VZE5	NAA35_HUMAN	V	534	.	ENSP00000354972:M534V	M	+	1	0	NAA35	87821305	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.033000	0.93741	2.044000	0.60594	0.402000	0.26972	ATG		0.363	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		G	88631485	A	G	88631485	3	3	156	1	0	0	0	0	1	0	0	0	10125	333	12	3	1666	3	NAA35	9	88631485	Missense_Mutation	SNP	A	TCGA-B0-4838-01A-01D-1373-10	52970860	88631485	52581946	18	9164											
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123169477	123169477	+	Missense_Mutation	SNP	G	G	C	rs374793213		TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr9:123169477G>C	ENST00000349780.4	-	32	4955	c.4776C>G	c.(4774-4776)caC>caG	p.H1592Q	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1551Q|CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1560Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1592					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCAGGAGGCTGTGCAGGTCCC	0.572																																																0													79	72	75					9																	123169477		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4776C>G	9.37:g.123169477G>C	ENSP00000343818:p.His1592Gln		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	8.067	0.769314	0.15983	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T	0.21543	3.98;3.9;3.99;2.31;2.0	5.44	-6.71	0.01760	.	0.119134	0.37906	N	0.001891	T	0.13286	0.0322	L	0.41236	1.265	0.18873	N	0.999988	B;B;B;B	0.25048	0.082;0.091;0.117;0.082	B;B;B;B	0.25291	0.059;0.026;0.039;0.059	T	0.07328	-1.0778	10	0.46703	T	0.11	.	11.0202	0.47713	0.6292:0.0917:0.2791:0.0	.	602;1560;1592;986	Q5JTU8;Q96SN8-2;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	Q	1560;1551;1592;986;602;1364	ENSP00000354065:H1560Q;ENSP00000352258:H1551Q;ENSP00000343818:H1592Q;ENSP00000400395:H986Q;ENSP00000409941:H602Q	ENSP00000341695:H1364Q	H	-	3	2	CDK5RAP2	122209298	0.002000	0.14202	0.456000	0.27044	0.724000	0.41520	-1.175000	0.03102	-1.269000	0.02436	-0.136000	0.14681	CAC		0.572	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		C	123169477	G	C	123169477	3	2	156	1	0	0	0	0	1	0	0	0	3148	1368	48	4	933	4	CDK5RAP2	9	123169477	Missense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10	34537992	123169477	18043954	19	9165											
CDH23	64072	hgsc.bcm.edu;ucsc.edu	37	10	73199633	73199633	+	Missense_Mutation	SNP	G	G	C	rs397517331		TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr10:73199633G>C	ENST00000224721.6	+	1	50	c.45G>C	c.(43-45)ttG>ttC	p.L15F	CDH23_ENST00000299366.7_Missense_Mutation_p.L60F|CDH23_ENST00000398809.4_Missense_Mutation_p.L15F|CDH23_ENST00000398842.3_Missense_Mutation_p.L15F|CDH23_ENST00000461841.3_Missense_Mutation_p.L60F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	15					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTGGCTTTTGGTGCTGATCT	0.622																																																0													57	61	60					10																	73199633		2084	4187	6271	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.45G>C	10.37:g.73199633G>C	ENSP00000224721:p.Leu15Phe		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	9.686	1.150563	0.21371	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721	T;T	0.60424	0.19;0.22	4.59	-1.99	0.07457	.	1.047880	0.07645	N	0.931022	T	0.32585	0.0834	N	0.08118	0	0.18873	N	0.999981	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.20107	-1.0285	10	0.49607	T	0.09	.	5.5254	0.16955	0.0:0.4672:0.1938:0.339	.	15;15;15	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	F	15	ENSP00000381789:L15F;ENSP00000381822:L15F	ENSP00000224721:L15F	L	+	3	2	CDH23	72869639	0.018000	0.18449	0.101000	0.21167	0.887000	0.51463	-1.226000	0.02953	-0.240000	0.09696	0.313000	0.20887	TTG		0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		C	73199633	G	C	73199633	3	2	156	1	0	0	0	0	1	0	0	0	3110	1339	47	4	47	4	CDH23	10	73199633	Missense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10		73199633	62335114	20	9166											
SMC3	9126	hgsc.bcm.edu;ucsc.edu	37	10	112328742	112328742	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr10:112328742A>T	ENST00000361804.4	+	2	188	c.62A>T	c.(61-63)gAt>gTt	p.D21V	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	21					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ACAATTGTAGATCCCTTCAGT	0.308																																																0													185	183	183					10																	112328742		2203	4298	6501	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.62A>T	10.37:g.112328742A>T	ENSP00000354720:p.Asp21Val		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456533	0.84317	.	.	ENSG00000108055	ENST00000361804	D	0.91577	-2.87	5.53	5.53	0.82687	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.86083	0.5848	L	0.35414	1.06	0.80722	D	1	P	0.44877	0.845	B	0.39935	0.314	D	0.87838	0.2649	10	0.66056	D	0.02	.	14.8501	0.70289	1.0:0.0:0.0:0.0	.	21	Q9UQE7	SMC3_HUMAN	V	21	ENSP00000354720:D21V	ENSP00000354720:D21V	D	+	2	0	SMC3	112318732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.451000	0.90343	2.092000	0.63282	0.460000	0.39030	GAT		0.308	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		T	112328742	A	T	112328742	3	4	156	1	0	0	0	0	1	0	0	0	14790	333	12	5	68	5	SMC3	10	112328742	Missense_Mutation	SNP	A	TCGA-B0-4838-01A-01D-1373-10	39129109	112328742	23206005	21	9167											
DUSP8	1850	hgsc.bcm.edu;ucsc.edu	37	11	1580186	1580186	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr11:1580186G>T	ENST00000397374.3	-	4	597	c.470C>A	c.(469-471)cCc>cAc	p.P157H	DUSP8_ENST00000331588.4_Missense_Mutation_p.P157H|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	157					inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GCCCACGCTGGGCACAGGCAG	0.662																																																0													74	62	66					11																	1580186		2202	4299	6501	SO:0001583	missense	1850				CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.470C>A	11.37:g.1580186G>T	ENSP00000380530:p.Pro157His		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367850	0.61513	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.61158	0.13;0.13	4.34	4.34	0.51931	.	0.421699	0.23563	N	0.046835	T	0.48429	0.1499	L	0.36672	1.1	0.33003	D	0.52644	B	0.30584	0.286	B	0.23716	0.048	T	0.63545	-0.6613	10	0.59425	D	0.04	.	17.0423	0.86493	0.0:0.0:1.0:0.0	.	157	Q13202	DUS8_HUMAN	H	157	ENSP00000380530:P157H;ENSP00000329539:P157H	ENSP00000329539:P157H	P	-	2	0	DUSP8	1536762	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	7.498000	0.81546	2.247000	0.74100	0.549000	0.68633	CCC		0.662	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		T	1580186	G	T	1580186	3	4	156	1	0	0	0	0	1	0	0	0	4833	1232	43	4	1423	4	DUSP8	11	1580186	Missense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10		1580186	133426330	22	9168											
TMPRSS13	84000	hgsc.bcm.edu	37	11	117772955	117772955	+	Silent	SNP	T	T	C	rs73020481	byFrequency	TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr11:117772955T>C	ENST00000524993.1	-	13	1760	c.1703A>G	c.(1702-1704)tAa>tGa	p.*568*	TMPRSS13_ENST00000528626.1_Silent_p.*533*	NM_001077263.2	NP_001070731.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	0						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCCAGCTGGTTAGGATTTTCT	0.602													T|||	308	0.0615016	0.0802	0.0706	5008	,	,		17737	0.0069		0.0964	False		,,,				2504	0.0501															0								T	,	267,3769		7,253,1758	42	47	46		1703,1598	1.2	0.9	11	dbSNP_130	46	727,7661		36,655,3503	no	coding-synonymous,coding-synonymous	TMPRSS13	NM_001077263.2,NM_001206789.1	,	43,908,5261	CC,CT,TT		8.6671,6.6155,8.0006	,	568/568,533/533	117772955	994,11430	2018	4194	6212	SO:0001819	synonymous_variant	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000524993.1:c.1703A>G	11.37:g.117772955T>C			B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000524993.1	37	CCDS41721.1																																																																																				0.602	TMPRSS13-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392317.1	NM_032046		C	117772955	T	C	117772955	2	2	156	1	0	0	0	0	0	0	0	1	16250	1761	61	3		3	TMPRSS13	11	117772955	Silent	SNP	T	TCGA-B0-4838-01A-01D-1373-10	116192769	117772955	17233561	23	9169											
DNAJC14	85406	hgsc.bcm.edu	37	12	56221611	56221611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr12:56221611G>A	ENST00000357606.3	-	3	1121	c.832C>T	c.(832-834)Caa>Taa	p.Q278*	DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.Q278*|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.Q278*|RP11-762I7.5_ENST00000546837.1_5'Flank			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	278					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTTTTCAGTTGCCTGCAGGCA	0.507																																																0													94	80	85					12																	56221611		2203	4300	6503	SO:0001587	stop_gained	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.832C>T	12.37:g.56221611G>A	ENSP00000350223:p.Gln278*		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Nonsense_Mutation	SNP	ENST00000357606.3	37	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	39	7.373284	0.98245	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287	.	.	.	5.18	3.3	0.37823	.	0.596334	0.17554	N	0.170070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.9963	4.8829	0.13688	0.178:0.0:0.645:0.177	.	.	.	.	X	278	.	.	Q	-	1	0	DNAJC14	54507878	0.999000	0.42202	0.997000	0.53966	0.995000	0.86356	1.798000	0.38814	0.637000	0.30526	0.655000	0.94253	CAA		0.507	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		A	56221611	G	A	56221611	4	1	156	1	0	0	0	0	0	1	0	0	4635	1328	46	2	1300	2	DNAJC14	12	56221611	Nonsense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10		56221611	77630284	24	9170											
C12orf64	283310	hgsc.bcm.edu;ucsc.edu	37	12	80750654	80750654	+	Silent	SNP	A	A	G			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr12:80750654A>G	ENST00000547103.1	+	48	5922	c.5916A>G	c.(5914-5916)caA>caG	p.Q1972Q	OTOGL_ENST00000546620.1_Silent_p.Q3Q|OTOGL_ENST00000458043.2_Silent_p.Q1984Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1972	Cys-rich.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCATGATTCAAGTTCGACAGG	0.348																																																0													110	99	102					12																	80750654		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5916A>G	12.37:g.80750654A>G			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	A	9.678	1.148470	0.21288	.	.	ENSG00000165899	ENST00000298820	.	.	.	5.47	1.56	0.23342	.	.	.	.	.	T	0.50701	0.1631	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33394	-0.9870	4	.	.	.	.	4.446	0.11597	0.64:0.0:0.2272:0.1328	.	.	.	.	R	427	.	.	K	+	2	0	OTOGL	79274785	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	0.677000	0.25262	0.016000	0.14998	0.455000	0.32223	AAG		0.348	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		G	80750654	A	G	80750654	2	3	156	1	0	0	0	0	0	0	0	1	1709	69	3	3		3	C12orf64	12	80750654	Silent	SNP	A	TCGA-B0-4838-01A-01D-1373-10	24529043	80750654	53101241	25	9171											
DHX37	57647	hgsc.bcm.edu	37	12	125455876	125455876	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr12:125455876A>G	ENST00000308736.2	-	8	1261	c.1163T>C	c.(1162-1164)cTg>cCg	p.L388P	DHX37_ENST00000544745.1_Missense_Mutation_p.L175P	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	388	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AATGCGGGACAGGAGGCCGAT	0.662																																																0													78	59	66					12																	125455876		2203	4300	6503	SO:0001583	missense	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1163T>C	12.37:g.125455876A>G	ENSP00000311135:p.Leu388Pro		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527255	0.85706	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.63744	-0.06;-0.06	5.22	5.22	0.72569	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.88937	0.6573	H	0.99838	4.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93857	0.7150	10	0.87932	D	0	-9.8489	14.8025	0.69926	1.0:0.0:0.0:0.0	.	388	Q8IY37	DHX37_HUMAN	P	388;175	ENSP00000311135:L388P;ENSP00000439009:L175P	ENSP00000311135:L388P	L	-	2	0	DHX37	124021829	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.165000	0.94761	1.980000	0.57719	0.454000	0.30748	CTG		0.662	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		G	125455876	A	G	125455876	3	3	156	1	0	0	0	0	1	0	0	0	4512	188	7	3	2390	3	DHX37	12	125455876	Missense_Mutation	SNP	A	TCGA-B0-4838-01A-01D-1373-10	44705222	125455876	8396019	26	9172											
RIMBP2	23504	hgsc.bcm.edu;ucsc.edu	37	12	130897239	130897239	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr12:130897239C>T	ENST00000261655.4	-	15	2909	c.2746G>A	c.(2746-2748)Gca>Aca	p.A916T		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	916	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCATCATCTGCTTGTATCTCA	0.478																																																0													121	115	117					12																	130897239		2203	4300	6503	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2746G>A	12.37:g.130897239C>T	ENSP00000261655:p.Ala916Thr		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	5.756	0.323892	0.10900	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.29397	1.57;1.57	5.06	5.06	0.68205	Src homology-3 domain (2);	0.057706	0.64402	D	0.000001	T	0.17280	0.0415	N	0.04636	-0.2	0.80722	D	1	P	0.47677	0.899	B	0.42112	0.376	T	0.10222	-1.0639	10	0.13853	T	0.58	-24.594	18.4389	0.90658	0.0:1.0:0.0:0.0	.	916	O15034	RIMB2_HUMAN	T	916;53	ENSP00000261655:A916T;ENSP00000439030:A53T	ENSP00000261655:A916T	A	-	1	0	RIMBP2	129463192	1.000000	0.71417	0.127000	0.21898	0.064000	0.16182	4.678000	0.61641	2.339000	0.79563	0.655000	0.94253	GCA		0.478	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130897239	C	T	130897239	3	4	156	1	0	0	0	0	1	0	0	0	13369	797	28	2	432	2	RIMBP2	12	130897239	Missense_Mutation	SNP	C	TCGA-B0-4838-01A-01D-1373-10	5441363	130897239	2954656	27	9173											
NBEA	26960	hgsc.bcm.edu;ucsc.edu	37	13	35758117	35758117	+	Silent	SNP	G	G	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr13:35758117G>T	ENST00000400445.3	+	30	5370	c.4836G>T	c.(4834-4836)gtG>gtT	p.V1612V	NBEA_ENST00000310336.4_Silent_p.V1612V|NBEA_ENST00000540320.1_Silent_p.V1612V|NBEA_ENST00000379939.2_Silent_p.V1609V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1612					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCACAGTTGTGGTCATACCAT	0.418																																																0													114	104	108					13																	35758117		1926	4131	6057	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4836G>T	13.37:g.35758117G>T			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.418	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		T	35758117	G	T	35758117	2	4	156	1	0	0	0	0	0	0	0	1	10189	1335	47	4		4	NBEA	13	35758117	Silent	SNP	G	TCGA-B0-4838-01A-01D-1373-10		35758117	79411761	28	9174											
OR6S1	341799	hgsc.bcm.edu;ucsc.edu	37	14	21109071	21109071	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr14:21109071A>T	ENST00000320704.3	-	1	779	c.780T>A	c.(778-780)ttT>ttA	p.F260L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GCACATAGAGAAAAATGGCAC	0.498																																																0													126	111	116					14																	21109071		2203	4300	6503	SO:0001583	missense	341799			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.780T>A	14.37:g.21109071A>T	ENSP00000313110:p.Phe260Leu		Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019787	0.75275	.	.	ENSG00000181803	ENST00000320704	T	0.00241	8.46	5.7	0.965	0.19661	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000109	T	0.00384	0.0012	L	0.58925	1.835	0.32904	D	0.513609	D	0.89917	1.0	D	0.97110	1.0	T	0.61252	-0.7100	10	0.87932	D	0	-18.5856	8.2284	0.31584	0.6714:0.0:0.3286:0.0	.	260	Q8NH40	OR6S1_HUMAN	L	260	ENSP00000313110:F260L	ENSP00000313110:F260L	F	-	3	2	OR6S1	20178911	0.829000	0.29322	1.000000	0.80357	0.994000	0.84299	0.040000	0.13905	0.450000	0.26774	0.533000	0.62120	TTT		0.498	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			T	21109071	A	T	21109071	3	4	156	1	0	0	0	0	1	0	0	0	11211	243	9	5	219	5	OR6S1	14	21109071	Missense_Mutation	SNP	A	TCGA-B0-4838-01A-01D-1373-10		21109071	86240469	29	9175											
MTHFD1	4522	hgsc.bcm.edu;ucsc.edu	37	14	64882205	64882205	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr14:64882205G>A	ENST00000545908.1	+	5	767	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	MTHFD1_ENST00000216605.8_Missense_Mutation_p.V124M			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	124	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CGAGAAGGATGTGGATGGGTA	0.388																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											0													233	215	221					14																	64882205		2203	4300	6503	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.538G>A	14.37:g.64882205G>A	ENSP00000438588:p.Val180Met		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	G	19.40	3.820520	0.71028	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.45668	1.61;1.7;1.64;0.89	4.96	4.96	0.65561	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75939	0.3918	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.84316	0.0513	10	0.87932	D	0	-17.7092	18.5926	0.91218	0.0:0.0:1.0:0.0	.	180;124;124	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	M	180;124;180;104	ENSP00000438588:V180M;ENSP00000450560:V124M;ENSP00000216605:V180M;ENSP00000451309:V104M	ENSP00000216605:V124M	V	+	1	0	MTHFD1	63951958	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	7.506000	0.81665	2.462000	0.83206	0.455000	0.32223	GTG		0.388	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			A	64882205	G	A	64882205	3	1	156	1	0	0	0	0	1	0	0	0	9929	1377	48	2	388	2	MTHFD1	14	64882205	Missense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10	43773134	64882205	42467335	30	9176											
POMT2	29954	hgsc.bcm.edu;ucsc.edu	37	14	77746380	77746380	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr14:77746380T>G	ENST00000261534.4	-	17	1971	c.1769A>C	c.(1768-1770)tAt>tCt	p.Y590S		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	590						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GCCAAGCAGATAGACTCGGAA	0.597																																																0													129	110	117					14																	77746380		2203	4300	6503	SO:0001583	missense	29954			AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1769A>C	14.37:g.77746380T>G	ENSP00000261534:p.Tyr590Ser		Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	CCDS9857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.2|26.2	4.714966|4.714966	0.89112|0.89112	.|.	.|.	ENSG00000009830|ENSG00000009830	ENST00000556171|ENST00000261534	.|D	.|0.95377	.|-3.69	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98232|0.98232	0.9415|0.9415	M|M	0.92412|0.92412	3.305|3.305	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.99429|0.99429	1.0935|1.0935	5|10	.|0.87932	.|D	.|0	-11.6585|-11.6585	15.9165|15.9165	0.79524|0.79524	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|590	.|Q9UKY4	.|POMT2_HUMAN	L|S	58|590	.|ENSP00000261534:Y590S	.|ENSP00000261534:Y590S	I|Y	-|-	1|2	0|0	POMT2|POMT2	76816133|76816133	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.982000|0.982000	0.71751|0.71751	7.707000|7.707000	0.84623|0.84623	2.169000|2.169000	0.68431|0.68431	0.460000|0.460000	0.39030|0.39030	ATC|TAT		0.597	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		G	77746380	T	G	77746380	3	3	156	1	0	0	0	0	1	0	0	0	12248	1406	49	5	503	5	POMT2	14	77746380	Missense_Mutation	SNP	T	TCGA-B0-4838-01A-01D-1373-10	12864175	77746380	29603160	31	9177											
VWA3A	146177	hgsc.bcm.edu	37	16	22135024	22135024	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr16:22135024A>C	ENST00000389398.5	+	16	1624	c.1528A>C	c.(1528-1530)Aaa>Caa	p.K510Q	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	510						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGTCTGTGAAAAAAGGTACCT	0.502																																																0													101	105	104					16																	22135024		1983	4163	6146	SO:0001583	missense	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1528A>C	16.37:g.22135024A>C	ENSP00000374049:p.Lys510Gln		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829229	0.71258	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.22743	1.94	5.83	5.83	0.93111	.	0.257576	0.38897	N	0.001532	T	0.32675	0.0837	L	0.57536	1.79	0.80722	D	1	P;P	0.43024	0.735;0.798	P;B	0.48368	0.575;0.384	T	0.02797	-1.1109	10	0.56958	D	0.05	.	15.0387	0.71770	1.0:0.0:0.0:0.0	.	510;134	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	Q	510;133	ENSP00000374049:K510Q	ENSP00000299840:K133Q	K	+	1	0	VWA3A	22042525	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.412000	0.52679	2.231000	0.72958	0.460000	0.39030	AAA		0.502	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			C	22135024	A	C	22135024	3	2	156	1	0	0	0	0	1	0	0	0	17245	15	1	5	1590	5	VWA3A	16	22135024	Missense_Mutation	SNP	A	TCGA-B0-4838-01A-01D-1373-10		22135024	68219729	32	9178											
SALL1	6299	hgsc.bcm.edu	37	16	51171109	51171109	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr16:51171109G>T	ENST00000251020.4	-	3	3922	c.3889C>A	c.(3889-3891)Ctg>Atg	p.L1297M	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.L1200M|SALL1_ENST00000541611.1_Missense_Mutation_p.L120M	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1297					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATTTTCTCCAGGCCGGCCAGG	0.592																																					GBM(103;1352 1446 1855 4775 8890)											0													75	69	71					16																	51171109		2198	4300	6498	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3889C>A	16.37:g.51171109G>T	ENSP00000251020:p.Leu1297Met		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316574	0.40996	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.59364	0.27;0.27;0.27	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	L	0.36672	1.1	0.53005	D	0.999969	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.965	T	0.66590	-0.5885	10	0.40728	T	0.16	.	20.0486	0.97617	0.0:0.0:1.0:0.0	.	1297;120	Q9NSC2;F5H733	SALL1_HUMAN;.	M	1297;1200;1261;120	ENSP00000251020:L1297M;ENSP00000407914:L1200M;ENSP00000442827:L120M	ENSP00000251020:L1297M	L	-	1	2	SALL1	49728610	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.701000	0.61810	2.752000	0.94435	0.643000	0.83706	CTG		0.592	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		T	51171109	G	T	51171109	3	4	156	1	0	0	0	0	1	0	0	0	13816	991	35	4	89	4	SALL1	16	51171109	Missense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10	29036085	51171109	39183644	33	9179											
CES1	1066	hgsc.bcm.edu	37	16	55862682	55862682	+	Missense_Mutation	SNP	G	G	A	rs144498758	byFrequency	TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr16:55862682G>A	ENST00000361503.4	-	2	384	c.254C>T	c.(253-255)cCt>cTt	p.P85L	CES1_ENST00000360526.3_Missense_Mutation_p.P86L|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000422046.2_Missense_Mutation_p.P85L			P23141	EST1_HUMAN	carboxylesterase 1	85					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	AGCTTACATAGGAGGGTACGA	0.552													.|||	5	0.000998403	0.0	0.0029	5008	,	,		31724	0.0		0.003	False		,,,				2504	0.0				NSCLC(162;1801 2756 42904 52896)											0													97	97	97					16																	55862682		2198	4300	6498	SO:0001583	missense	1066			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.254C>T	16.37:g.55862682G>A	ENSP00000355193:p.Pro85Leu		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	13.92	2.381373	0.42207	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.71222	-0.55;-0.55;-0.55	4.48	4.48	0.54585	Carboxylesterase, type B (1);	0.000000	0.48286	D	0.000200	D	0.86760	0.6010	M	0.91249	3.19	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90023	0.4129	10	0.87932	D	0	.	14.6933	0.69101	0.0:0.0:1.0:0.0	.	85;85;86	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	L	86;85;85	ENSP00000353720:P86L;ENSP00000355193:P85L;ENSP00000390492:P85L	ENSP00000353720:P86L	P	-	2	0	CES1	54420183	0.998000	0.40836	0.982000	0.44146	0.104000	0.19210	4.002000	0.57053	2.051000	0.60960	0.393000	0.25936	CCT		0.552	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		A	55862682	G	A	55862682	3	1	156	1	0	0	0	0	1	0	0	0	3271	1000	35	2	1501	2	CES1	16	55862682	Missense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10	4691573	55862682	34492071	34	9180											
MYO18A	399687	hgsc.bcm.edu;ucsc.edu	37	17	27417887	27417887	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr17:27417887C>G	ENST00000527372.1	-	35	5425	c.5245G>C	c.(5245-5247)Gag>Cag	p.E1749Q	MYO18A_ENST00000533112.1_Missense_Mutation_p.E1712Q|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1749Q|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1749Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1749					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.E1749Q(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGATCTTCCTCCAGCCGGTTC	0.582																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											1	Substitution - Missense(1)	ovary(1)											179	175	176					17																	27417887		2068	4215	6283	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5245G>C	17.37:g.27417887C>G	ENSP00000437073:p.Glu1749Gln		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976249	0.53720	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	T;D;T;T	0.83673	-1.42;-1.75;-1.42;-1.42	4.93	3.95	0.45737	Myosin tail (1);	0.047186	0.85682	D	0.000000	D	0.90324	0.6973	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.76494	0.976;0.999;0.998;0.999	P;D;P;D	0.70487	0.743;0.943;0.898;0.969	D	0.91686	0.5362	10	0.66056	D	0.02	.	15.3615	0.74478	0.0:0.8597:0.1403:0.0	.	1352;1712;1749;1749	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	Q	1749;1712;1712;1749;1749;645;645;1352;30	ENSP00000346291:E1749Q;ENSP00000435932:E1712Q;ENSP00000434228:E1749Q;ENSP00000437073:E1749Q	ENSP00000346291:E1749Q	E	-	1	0	MYO18A	24442013	1.000000	0.71417	0.992000	0.48379	0.052000	0.14988	7.261000	0.78400	1.423000	0.47198	-0.176000	0.13171	GAG		0.582	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		G	27417887	C	G	27417887	3	3	156	1	0	0	0	0	1	0	0	0	10067	864	30	4	951	4	MYO18A	17	27417887	Missense_Mutation	SNP	C	TCGA-B0-4838-01A-01D-1373-10		27417887	53777323	35	9181											
PGS1	9489	hgsc.bcm.edu;ucsc.edu	37	17	76396757	76396757	+	Splice_Site	SNP	G	G	A			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr17:76396757G>A	ENST00000262764.6	+	6	727		c.e6-1		SNORA30_ENST00000363193.1_RNA|PGS1_ENST00000329897.7_Splice_Site|PGS1_ENST00000588281.1_Splice_Site	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CCTCCCTGTAGTGCAAACCTG	0.587																																					Esophageal Squamous(45;182 1126 10685 43198)											0													116	124	121					17																	76396757		2152	4242	6394	SO:0001630	splice_region_variant	9489				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.702-1G>A	17.37:g.76396757G>A			B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Splice_Site	SNP	ENST00000262764.6	37	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384841	0.95967	.	.	ENSG00000087157	ENST00000262764;ENST00000329897;ENST00000335081	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.905	0.92456	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PGS1	73908352	1.000000	0.71417	0.607000	0.28956	0.927000	0.56198	9.116000	0.94341	2.626000	0.88956	0.557000	0.71058	.		0.587	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419	Intron	A	76396757	G	A	76396757	5	1	156	1	0	0	0	0	0	0	1	0	11810	1043	36	2	723	2	PGS1	17	76396757	Splice_Site	SNP	G	TCGA-B0-4838-01A-01D-1373-10	48978870	76396757	4798453	36	9182											
KIAA0802	23255	hgsc.bcm.edu	37	18	8819154	8819154	+	Missense_Mutation	SNP	C	C	T	rs367943286		TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr18:8819154C>T	ENST00000306329.11	+	11	4010	c.4010C>T	c.(4009-4011)tCg>tTg	p.S1337L	SOGA2_ENST00000359865.3_Missense_Mutation_p.S1018L|SOGA2_ENST00000518815.1_Missense_Mutation_p.S343L|SOGA2_ENST00000400050.3_Missense_Mutation_p.S977L|SOGA2_ENST00000517570.1_Missense_Mutation_p.S977L|SOGA2_ENST00000306285.7_Missense_Mutation_p.S343L																							GACAGGTGCTCGGCCAGTGAG	0.622																																																0								C	LEU/SER	0,4406		0,0,2203	53	50	51		3053	5.8	1	18		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC165	NM_015210.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1018/1587	8819154	1,13005	2203	4300	6503	SO:0001583	missense	0																														ENST00000306329.11:c.4010C>T	18.37:g.8819154C>T	ENSP00000305027:p.Ser1337Leu			Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	C	17.79	3.476085	0.63737	0.0	1.16E-4	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.77	5.77	0.91146	.	0.163302	0.29572	N	0.011768	T	0.33147	0.0853	M	0.65975	2.015	0.26939	N	0.966293	D;D	0.55172	0.97;0.962	B;B	0.33042	0.122;0.157	T	0.50363	-0.8837	10	0.33141	T	0.24	-9.8281	9.3862	0.38345	0.0:0.6702:0.254:0.0758	.	1328;1018	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	L	1039;977;1018;977;343	ENSP00000429556:S977L;ENSP00000352927:S1018L;ENSP00000382924:S977L;ENSP00000303670:S343L	ENSP00000303670:S343L	S	+	2	0	CCDC165	8809154	0.948000	0.32251	0.970000	0.41538	0.998000	0.95712	1.860000	0.39428	2.884000	0.98904	0.655000	0.94253	TCG		0.622	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8819154	C	T	8819154	3	4	156	1	0	0	0	0	1	0	0	0	8196	893	31	1	3095	1	KIAA0802	18	8819154	Missense_Mutation	SNP	C	TCGA-B0-4838-01A-01D-1373-10		8819154	69258094	37	9183											
SGTA	6449	hgsc.bcm.edu	37	19	2769005	2769005	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr19:2769005T>G	ENST00000221566.2	-	2	223	c.62A>C	c.(61-63)cAc>cCc	p.H21P		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	21					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCCCGTGCCGGAGCTG	0.632																																																0													75	81	79					19																	2769005		2203	4300	6503	SO:0001583	missense	6449			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.62A>C	19.37:g.2769005T>G	ENSP00000221566:p.His21Pro		D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	T	7.511	0.654722	0.14580	.	.	ENSG00000104969	ENST00000221566	T	0.34072	1.38	4.71	4.71	0.59529	.	0.178511	0.47455	D	0.000228	T	0.32255	0.0823	L	0.47716	1.5	0.30422	N	0.777993	B	0.19331	0.035	B	0.24394	0.053	T	0.24728	-1.0152	10	0.31617	T	0.26	-13.8022	12.1435	0.54010	0.0:0.0:0.0:1.0	.	21	O43765	SGTA_HUMAN	P	21	ENSP00000221566:H21P	ENSP00000221566:H21P	H	-	2	0	SGTA	2720005	0.605000	0.26941	1.000000	0.80357	0.488000	0.33401	1.553000	0.36255	1.758000	0.51981	0.402000	0.26972	CAC		0.632	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		G	2769005	T	G	2769005	3	3	156	1	0	0	0	0	1	0	0	0	14231	1696	59	5	919	5	SGTA	19	2769005	Missense_Mutation	SNP	T	TCGA-B0-4838-01A-01D-1373-10		2769005	56359978	38	9184											
COL5A3	50509	hgsc.bcm.edu	37	19	10071434	10071434	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr19:10071434T>C	ENST00000264828.3	-	66	5069	c.4984A>G	c.(4984-4986)Acg>Gcg	p.T1662A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1662	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TAGTCACCCGTGGCTTCGTCC	0.592																																																0													73	65	67					19																	10071434		2203	4300	6503	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4984A>G	19.37:g.10071434T>C	ENSP00000264828:p.Thr1662Ala		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	T	0.208	-1.038792	0.02013	.	.	ENSG00000080573	ENST00000264828	T	0.73258	-0.73	4.03	0.487	0.16842	Fibrillar collagen, C-terminal (4);	0.795441	0.11200	N	0.588890	T	0.38374	0.1038	N	0.05574	-0.02	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29397	-1.0013	10	0.02654	T	1	.	2.019	0.03505	0.3484:0.3748:0.1706:0.1062	.	1662	P25940	CO5A3_HUMAN	A	1662	ENSP00000264828:T1662A	ENSP00000264828:T1662A	T	-	1	0	COL5A3	9932434	0.000000	0.05858	0.004000	0.12327	0.055000	0.15305	-0.737000	0.04877	0.009000	0.14813	-0.464000	0.05259	ACG		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		C	10071434	T	C	10071434	3	2	156	1	0	0	0	0	1	0	0	0	3700	1696	59	3	261	3	COL5A3	19	10071434	Missense_Mutation	SNP	T	TCGA-B0-4838-01A-01D-1373-10	7302429	10071434	49057549	39	9185											
CD97	976	hgsc.bcm.edu	37	19	14517988	14517988	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr19:14517988A>C	ENST00000242786.5	+	18	2403	c.2323A>C	c.(2323-2325)Aac>Cac	p.N775H	DDX39A_ENST00000592927.1_5'Flank|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.N726H|CD97_ENST00000358600.3_Missense_Mutation_p.N682H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	775					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TACCATCCTCAACTGCCTGCA	0.602																																																0													152	128	136					19																	14517988		2203	4300	6503	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2323A>C	19.37:g.14517988A>C	ENSP00000242786:p.Asn775His		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763777	0.69878	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.55760	0.5;0.5;0.5	5.16	5.16	0.70880	GPCR, family 2-like (1);	0.000000	0.36628	N	0.002497	T	0.77877	0.4196	M	0.93016	3.37	0.36144	D	0.846964	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86742	0.1955	10	0.87932	D	0	.	12.9243	0.58252	1.0:0.0:0.0:0.0	.	682;726;775	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	H	775;726;682;725	ENSP00000242786:N775H;ENSP00000349918:N726H;ENSP00000351413:N682H	ENSP00000242786:N775H	N	+	1	0	CD97	14378988	1.000000	0.71417	0.995000	0.50966	0.672000	0.39443	6.676000	0.74498	1.935000	0.56089	0.533000	0.62120	AAC		0.602	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		C	14517988	A	C	14517988	3	2	156	1	0	0	0	0	1	0	0	0	3051	130	5	5	2393	5	CD97	19	14517988	Missense_Mutation	SNP	A	TCGA-B0-4838-01A-01D-1373-10	4446554	14517988	44610995	40	9186											
ZNF574	64763	hgsc.bcm.edu	37	19	42584326	42584326	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr19:42584326T>A	ENST00000600245.1	+	2	2223	c.1568T>A	c.(1567-1569)tTc>tAc	p.F523Y	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.F613Y|ZNF574_ENST00000359044.4_Missense_Mutation_p.F523Y			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GAGCGGCCCTTCCCCTGCCCT	0.622																																																0													168	186	180					19																	42584326		2203	4300	6503	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1568T>A	19.37:g.42584326T>A	ENSP00000469029:p.Phe523Tyr		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.432886	0.25813	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.17054	2.3;2.3	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.067484	0.64402	D	0.000014	T	0.05044	0.0135	N	0.04335	-0.225	0.38491	D	0.947979	P;P	0.40619	0.561;0.724	B;B	0.30943	0.097;0.122	T	0.31752	-0.9932	10	0.02654	T	1	-15.8964	9.2006	0.37256	0.1621:0.0:0.0:0.8379	.	523;612	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	Y	613;523;130	ENSP00000222339:F613Y;ENSP00000351939:F523Y	ENSP00000222339:F613Y	F	+	2	0	ZNF574	47276166	0.995000	0.38212	1.000000	0.80357	0.452000	0.32318	1.296000	0.33389	1.896000	0.54893	0.528000	0.53228	TTC		0.622	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		A	42584326	T	A	42584326	3	1	156	1	0	0	0	0	1	0	0	0	18011	1783	62	5	1570	5	ZNF574	19	42584326	Missense_Mutation	SNP	T	TCGA-B0-4838-01A-01D-1373-10	28066338	42584326	16544657	41	9187											
PCSK2	5126	hgsc.bcm.edu	37	20	17437054	17437054	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr20:17437054C>A	ENST00000262545.2	+	10	1478	c.1163C>A	c.(1162-1164)cCc>cAc	p.P388H	PCSK2_ENST00000377899.1_Missense_Mutation_p.P369H|PCSK2_ENST00000536609.1_Missense_Mutation_p.P353H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	388	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCAGCTGCCCCCGAGGCAGCT	0.532																																																0													143	146	145					20																	17437054		2203	4300	6503	SO:0001583	missense	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1163C>A	20.37:g.17437054C>A	ENSP00000262545:p.Pro388His		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028029	0.93518	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.79454	-1.27;-1.27;-1.27	5.93	5.93	0.95920	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.93106	0.7805	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95012	0.8152	10	0.87932	D	0	-25.567	18.8972	0.92429	0.0:1.0:0.0:0.0	.	353;388	B4DFQ3;P16519	.;NEC2_HUMAN	H	369;388;353	ENSP00000367131:P369H;ENSP00000262545:P388H;ENSP00000437458:P353H	ENSP00000262545:P388H	P	+	2	0	PCSK2	17385054	1.000000	0.71417	0.970000	0.41538	0.905000	0.53344	7.744000	0.85034	2.818000	0.97014	0.591000	0.81541	CCC		0.532	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		A	17437054	C	A	17437054	3	1	156	1	0	0	0	0	1	0	0	0	11603	623	22	4	1201	4	PCSK2	20	17437054	Missense_Mutation	SNP	C	TCGA-B0-4838-01A-01D-1373-10		17437054	45588466	42	9188											
BPI	671	hgsc.bcm.edu;ucsc.edu	37	20	36940337	36940337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chr20:36940337C>T	ENST00000262865.4	+	5	699	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	204					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GATGAACAGCCAGGTAGGAGG	0.507																																																0													72	68	70					20																	36940337		2203	4300	6503	SO:0001587	stop_gained	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.610C>T	20.37:g.36940337C>T	ENSP00000262865:p.Gln204*		B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Nonsense_Mutation	SNP	ENST00000262865.4	37	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960302	0.53400	.	.	ENSG00000101425	ENST00000262865	.	.	.	3.49	-1.56	0.08532	.	0.438759	0.23199	N	0.050818	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8999	4.0741	0.09895	0.4016:0.3781:0.2203:0.0	.	.	.	.	X	204	.	ENSP00000262865:Q204X	Q	+	1	0	BPI	36373751	0.163000	0.22920	0.038000	0.18304	0.008000	0.06430	0.298000	0.19120	-0.339000	0.08401	-1.325000	0.01285	CAG		0.507	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		T	36940337	C	T	36940337	4	4	156	1	0	0	0	0	0	1	0	0	1492	595	21	2	628	2	BPI	20	36940337	Nonsense_Mutation	SNP	C	TCGA-B0-4838-01A-01D-1373-10	19503283	36940337	26085183	43	9189											
PAGE1	8712	hgsc.bcm.edu	37	X	49454063	49454063	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chrX:49454063A>T	ENST00000376150.3	-	5	508	c.376T>A	c.(376-378)Ttg>Atg	p.L126M		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	126					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GGCAGGCCCAACTCCTGGACA	0.488																																																0													104	91	96					X																	49454063		2203	4300	6503	SO:0001583	missense	8712			AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"G antigen, family B, 1 (prostate associated)"	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.376T>A	X.37:g.49454063A>T	ENSP00000365320:p.Leu126Met		Q6FGM3|Q9BSS7	Missense_Mutation	SNP	ENST00000376150.3	37	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.319359	0.01320	.	.	ENSG00000068985	ENST00000376150	T	0.09163	3.01	1.03	-2.06	0.07298	.	.	.	.	.	T	0.02649	0.0080	N	0.01297	-0.9	0.09310	N	1	B	0.31383	0.321	B	0.29785	0.107	T	0.35375	-0.9791	9	0.34782	T	0.22	.	1.4793	0.02433	0.3268:0.2577:0.0:0.4155	.	126	O75459	GAGB1_HUMAN	M	126	ENSP00000365320:L126M	ENSP00000365320:L126M	L	-	1	2	PAGE1	49341017	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.199000	0.17237	-1.071000	0.03145	-1.432000	0.01085	TTG		0.488	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1			T	49454063	A	T	49454063	3	4	156	1	0	0	0	0	1	0	0	0	11391	40	2	5	72	5	PAGE1	23	49454063	Missense_Mutation	SNP	A	TCGA-B0-4838-01A-01D-1373-10		49454063	105816497	44	9190											
F9	2158	hgsc.bcm.edu;ucsc.edu	37	X	138633386	138633386	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4838-01A-01D-1373-10	TCGA-B0-4838-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	6e9ffa47-f919-459c-bde8-0384d717db08	a4eff4fa-ce80-4e09-84b5-265feec77f84	g.chrX:138633386G>T	ENST00000218099.2	+	6	693	c.686G>T	c.(685-687)gGt>gTt	p.G229V	F9_ENST00000394090.2_Missense_Mutation_p.G191V	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	229	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CGGGTTGTTGGTGGAGAAGAT	0.448																																																0													133	109	118					X																	138633386		2203	4300	6503	SO:0001583	missense	2158			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.686G>T	X.37:g.138633386G>T	ENSP00000218099:p.Gly229Val		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992920	0.74703	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.95724	-3.79;-3.79	5.31	5.31	0.75309	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.106395	0.64402	D	0.000003	D	0.98689	0.9560	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.976	D	0.99802	1.1036	10	0.87932	D	0	.	16.5357	0.84372	0.0:0.0:1.0:0.0	.	191;229	Q5FBE1;P00740	.;FA9_HUMAN	V	229;191	ENSP00000218099:G229V;ENSP00000377650:G191V	ENSP00000218099:G229V	G	+	2	0	F9	138461052	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.858000	0.69532	2.211000	0.71520	0.600000	0.82982	GGT		0.448	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			T	138633386	G	T	138633386	3	4	156	1	0	0	0	0	1	0	0	0	5353	1261	44	4	708	4	F9	23	138633386	Missense_Mutation	SNP	G	TCGA-B0-4838-01A-01D-1373-10	89179323	138633386	16637174	45	9191											
C1orf135	79000	hgsc.bcm.edu	37	1	26162205	26162205	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr1:26162205G>A	ENST00000374298.3	-	3	407	c.353C>T	c.(352-354)cCt>cTt	p.P118L	AUNIP_ENST00000538789.1_Missense_Mutation_p.P118L|AUNIP_ENST00000481602.1_Intron	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	118					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AGTGGCTAAAGGGGATGCCAT	0.483																																																0													174	163	167					1																	26162205		2203	4300	6503	SO:0001583	missense	0				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 135"	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.353C>T	1.37:g.26162205G>A	ENSP00000363416:p.Pro118Leu		C9EI59|Q53F70	Missense_Mutation	SNP	ENST00000374298.3	37	CCDS266.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547982	0.65311	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.56275	0.47;0.47	5.14	5.14	0.70334	.	0.000000	0.50627	D	0.000118	T	0.59945	0.2231	L	0.36672	1.1	0.47778	D	0.999515	D	0.67145	0.996	D	0.63381	0.914	T	0.59332	-0.7474	10	0.49607	T	0.09	-10.7659	13.9704	0.64237	0.0:0.0:1.0:0.0	.	118	Q9H7T9	CA135_HUMAN	L	118	ENSP00000443647:P118L;ENSP00000363416:P118L	ENSP00000363416:P118L	P	-	2	0	C1orf135	26034792	1.000000	0.71417	0.989000	0.46669	0.630000	0.37929	4.235000	0.58666	2.671000	0.90904	0.585000	0.79938	CCT		0.483	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		A	26162205	G	A	26162205	3	1	157	1	0	0	0	0	1	0	0	0	2001	1000	35	2	724	2	C1orf135	1	26162205	Missense_Mutation	SNP	G	TCGA-B0-4839-01A-01D-1373-10		26162205	223088416	1	9192											
FRRS1	391059	hgsc.bcm.edu;ucsc.edu	37	1	100206440	100206440	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr1:100206440A>G	ENST00000414213.1	-	6	1086	c.485T>C	c.(484-486)aTt>aCt	p.I162T	FRRS1_ENST00000287474.5_Missense_Mutation_p.I162T			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	162	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGGTTGTGAAATTATAGGACC	0.398																																																0													219	217	217					1																	100206440		2203	4300	6503	SO:0001583	missense	391059			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.485T>C	1.37:g.100206440A>G	ENSP00000393884:p.Ile162Thr		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37		.	.	.	.	.	.	.	.	.	.	A	18.29	3.590694	0.66219	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.58	5.58	0.84498	.	0.170585	0.48286	D	0.000198	T	0.56441	0.1985	L	0.52573	1.65	0.58432	D	0.999997	D	0.62365	0.991	P	0.53954	0.738	T	0.62831	-0.6771	9	0.72032	D	0.01	-21.069	15.7486	0.77967	1.0:0.0:0.0:0.0	.	162	Q6ZNA5-2	.	T	162	.	ENSP00000287474:I162T	I	-	2	0	FRRS1	99979028	1.000000	0.71417	0.950000	0.38849	0.520000	0.34377	7.099000	0.76981	2.122000	0.65172	0.533000	0.62120	ATT		0.398	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		G	100206440	A	G	100206440	3	3	157	1	0	0	0	0	1	0	0	0	6062	101	4	3	1443	3	FRRS1	1	100206440	Missense_Mutation	SNP	A	TCGA-B0-4839-01A-01D-1373-10	74044235	100206440	149044181	2	9193											
RC3H1	149041	hgsc.bcm.edu;ucsc.edu	37	1	173916561	173916561	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr1:173916561G>C	ENST00000367696.2	-	15	3034	c.2683C>G	c.(2683-2685)Cca>Gca	p.P895A	RC3H1_ENST00000258349.4_Missense_Mutation_p.P895A|RC3H1_ENST00000367694.2_Missense_Mutation_p.P895A			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	895					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCCTGCATTGGACCAGCACCC	0.453																																																0													127	128	128					1																	173916561		2203	4300	6503	SO:0001583	missense	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2683C>G	1.37:g.173916561G>C	ENSP00000356669:p.Pro895Ala		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786790	0.90367	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.71222	-0.54;-0.54;-0.55	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.80555	0.4645	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.994;0.994;0.997;0.994	T	0.81072	-0.1098	10	0.59425	D	0.04	-11.2999	19.3109	0.94187	0.0:0.0:1.0:0.0	.	895;895;895;895	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	A	895	ENSP00000356669:P895A;ENSP00000258349:P895A;ENSP00000356667:P895A	ENSP00000258349:P895A	P	-	1	0	RC3H1	172183184	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.338000	0.96553	2.555000	0.86185	0.591000	0.81541	CCA		0.453	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		C	173916561	G	C	173916561	3	2	157	1	0	0	0	0	1	0	0	0	13172	1174	41	4	742	4	RC3H1	1	173916561	Missense_Mutation	SNP	G	TCGA-B0-4839-01A-01D-1373-10	73710121	173916561	75334060	3	9194											
NFASC	23114	hgsc.bcm.edu;ucsc.edu	37	1	204957785	204957785	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr1:204957785A>T	ENST00000401399.1	+	22	2817	c.2618A>T	c.(2617-2619)cAg>cTg	p.Q873L	NFASC_ENST00000360049.4_Missense_Mutation_p.Q976L|NFASC_ENST00000339876.6_Missense_Mutation_p.Q873L|NFASC_ENST00000367170.4_Missense_Mutation_p.Q980L|NFASC_ENST00000539706.1_Missense_Mutation_p.Q976L|NFASC_ENST00000338586.6_Missense_Mutation_p.Q980L|NFASC_ENST00000404076.1_Missense_Mutation_p.Q959L|NFASC_ENST00000367169.4_Missense_Mutation_p.Q873L|NFASC_ENST00000338515.6_Missense_Mutation_p.Q980L|NFASC_ENST00000367172.4_Missense_Mutation_p.Q980L|NFASC_ENST00000513543.1_Missense_Mutation_p.Q976L|NFASC_ENST00000404907.1_Missense_Mutation_p.Q976L|NFASC_ENST00000367171.4_Missense_Mutation_p.Q965L|NFASC_ENST00000495396.1_3'UTR			O94856	NFASC_HUMAN	neurofascin	881	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTAGGAAAGCAGATAGTGGAA	0.483																																																0													89	82	85					1																	204957785		2203	4300	6503	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2618A>T	1.37:g.204957785A>T	ENSP00000385637:p.Gln873Leu		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.24|12.24	1.877745|1.877745	0.33162|0.33162	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173;ENST00000425360	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.56275|.	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47|.	5.38|5.38	1.66|1.66	0.24008|0.24008	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.509962|.	0.16030|.	N|.	0.232940|.	T|.	0.25680|.	0.0625|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B;B;B;B;B|.	0.11235|.	0.004;0.0;0.0;0.003;0.0;0.003;0.003;0.003;0.001|.	B;B;B;B;B;B;B;B;B|.	0.15870|.	0.014;0.0;0.001;0.004;0.004;0.012;0.001;0.001;0.01|.	T|.	0.20472|.	-1.0274|.	10|.	0.22706|.	T|.	0.39|.	.|.	14.1273|14.1273	0.65230|0.65230	0.297:0.703:0.0:0.0|0.297:0.703:0.0:0.0	.|.	980;991;976;980;980;873;965;873;976|.	O94856;O94856-11;O94856-8;O94856-7;F8W8X7;O94856-4;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.;.;.;.|.	L|X	980;965;980;980;873;980;991;976;976;873;959;873;976;976;967|843;105	ENSP00000356140:Q980L;ENSP00000356139:Q965L;ENSP00000356138:Q980L;ENSP00000342128:Q980L;ENSP00000344786:Q873L;ENSP00000343509:Q980L;ENSP00000438614:Q976L;ENSP00000353154:Q976L;ENSP00000356137:Q873L;ENSP00000385676:Q959L;ENSP00000385637:Q873L;ENSP00000384061:Q976L;ENSP00000425908:Q976L;ENSP00000415031:Q967L|.	ENSP00000295776:Q991L|.	Q|R	+|+	2|1	0|2	NFASC|NFASC	203224408|203224408	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.716000|1.716000	0.37981|0.37981	0.305000|0.305000	0.22832|0.22832	-0.313000|-0.313000	0.08912|0.08912	CAG|AGA		0.483	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		T	204957785	A	T	204957785	3	4	157	1	0	0	0	0	1	0	0	0	10361	188	7	5	3113	5	NFASC	1	204957785	Missense_Mutation	SNP	A	TCGA-B0-4839-01A-01D-1373-10	31041224	204957785	44292836	4	9195											
USH2A	7399	hgsc.bcm.edu;ucsc.edu	37	1	216061915	216061915	+	Silent	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr1:216061915T>C	ENST00000307340.3	-	41	8462	c.8076A>G	c.(8074-8076)ccA>ccG	p.P2692P	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Silent_p.P2692P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2692	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTTGTCCATGGGCTAAGAG	0.468										HNSCC(13;0.011)																																						0													93	91	92					1																	216061915		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8076A>G	1.37:g.216061915T>C			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216061915	T	C	216061915	2	2	157	1	0	0	0	0	0	0	0	1	17041	1451	51	3		3	USH2A	1	216061915	Silent	SNP	T	TCGA-B0-4839-01A-01D-1373-10	11104130	216061915	33188706	5	9196											
EPT1	85465	hgsc.bcm.edu;ucsc.edu	37	2	26587766	26587766	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr2:26587766T>A	ENST00000260585.7	+	3	312	c.193T>A	c.(193-195)Ttt>Att	p.F65I		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	65					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										CGTATTCAATTTTCTGCTAAT	0.308																																																0													97	88	91					2																	26587766		1807	4061	5868	SO:0001583	missense	85465				CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"selenoprotein I"	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.193T>A	2.37:g.26587766T>A	ENSP00000260585:p.Phe65Ile		Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	T	31	5.101733	0.94245	.	.	ENSG00000138018	ENST00000442141;ENST00000260585;ENST00000447170	T;T	0.39997	1.05;1.05	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.65483	-0.6157	10	0.34782	T	0.22	-22.7793	15.2725	0.73717	0.0:0.0:0.0:1.0	.	65	Q9C0D9	EPT1_HUMAN	I	33;65;65	ENSP00000415280:F33I;ENSP00000260585:F65I	ENSP00000260585:F65I	F	+	1	0	EPT1	26441270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.272000	0.78516	2.285000	0.76669	0.533000	0.62120	TTT		0.308	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2		A	26587766	T	A	26587766	3	1	157	1	0	0	0	0	1	0	0	0	5201	1841	64	5	203	5	EPT1	2	26587766	Missense_Mutation	SNP	T	TCGA-B0-4839-01A-01D-1373-10		26587766	216611607	6	9197											
ARHGAP25	9938	hgsc.bcm.edu;ucsc.edu	37	2	69034512	69034512	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr2:69034512G>A	ENST00000295381.3	+	5	990	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G185S|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G185S|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G184S|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G166S|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G152S|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G192S	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	191	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.G185C(2)|p.G192C(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTGGAGCACGGCCGGAATGA	0.582																																																4	Substitution - Missense(4)	lung(4)											124	110	115					2																	69034512		2203	4300	6503	SO:0001583	missense	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.571G>A	2.37:g.69034512G>A	ENSP00000295381:p.Gly191Ser		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	G	27.7	4.859396	0.91433	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.57107	0.42;0.42;2.28;2.28;0.42;2.28;2.28	4.88	4.88	0.63580	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.052772	0.85682	D	0.000000	T	0.79137	0.4395	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;0.999	D;D;P;P;P;P;D	0.81914	0.986;0.995;0.88;0.88;0.88;0.864;0.981	D	0.84747	0.0754	10	0.87932	D	0	.	17.1999	0.86903	0.0:0.0:1.0:0.0	.	152;166;192;185;184;185;191	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	S	166;191;192;152;184;185;185;185;176	ENSP00000439917:G166S;ENSP00000295381:G191S;ENSP00000386911:G192S;ENSP00000420583:G152S;ENSP00000386863:G184S;ENSP00000386241:G185S;ENSP00000417139:G185S	ENSP00000295381:G191S	G	+	1	0	ARHGAP25	68888016	1.000000	0.71417	0.942000	0.38095	0.579000	0.36224	9.374000	0.97172	2.545000	0.85829	0.555000	0.69702	GGC		0.582	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		A	69034512	G	A	69034512	3	1	157	1	0	0	0	0	1	0	0	0	874	1116	39	1	632	1	ARHGAP25	2	69034512	Missense_Mutation	SNP	G	TCGA-B0-4839-01A-01D-1373-10	42446746	69034512	174164861	7	9198											
RTKN	6242	hgsc.bcm.edu	37	2	74657145	74657145	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr2:74657145A>T	ENST00000233330.6	-	6	732	c.415T>A	c.(415-417)Ttt>Att	p.F139I	RTKN_ENST00000272430.5_Missense_Mutation_p.F189I|RTKN_ENST00000484453.1_5'Flank|RTKN_ENST00000305557.5_Missense_Mutation_p.F176I	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CGCAGTTCAAAGTCTGGCCCC	0.627																																																0													42	47	45					2																	74657145		2169	4284	6453	SO:0001583	missense	6242			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"Pleckstrin homology (PH) domain containing"	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.415T>A	2.37:g.74657145A>T	ENSP00000233330:p.Phe139Ile			Missense_Mutation	SNP	ENST00000233330.6	37	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	A	33	5.235981	0.95240	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.58652	0.32;0.32;0.32	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.75917	0.3915	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79650	-0.1715	10	0.87932	D	0	.	12.7821	0.57483	1.0:0.0:0.0:0.0	.	189;176	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	I	176;189;139	ENSP00000305298:F176I;ENSP00000272430:F189I;ENSP00000233330:F139I	ENSP00000233330:F139I	F	-	1	0	RTKN	74510653	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.586000	0.90806	2.117000	0.64856	0.459000	0.35465	TTT		0.627	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		T	74657145	A	T	74657145	3	4	157	1	0	0	0	0	1	0	0	0	13728	72	3	5	1154	5	RTKN	2	74657145	Missense_Mutation	SNP	A	TCGA-B0-4839-01A-01D-1373-10	5622633	74657145	168542228	8	9199											
ZC3H6	376940	hgsc.bcm.edu;ucsc.edu	37	2	113067654	113067654	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr2:113067654G>A	ENST00000409871.1	+	4	930	c.529G>A	c.(529-531)Gct>Act	p.A177T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.A177T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	177							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATACAGGCAAGCTAAAGAAAC	0.373																																																0													79	74	75					2																	113067654		1852	4100	5952	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.529G>A	2.37:g.113067654G>A	ENSP00000386764:p.Ala177Thr		A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048445	0.75846	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.21031	2.03;2.03	5.86	0.481	0.16809	.	2.518930	0.01712	N	0.027760	T	0.34048	0.0884	M	0.74647	2.275	0.33006	D	0.526947	P	0.50819	0.939	P	0.47744	0.556	T	0.33111	-0.9881	10	0.56958	D	0.05	-1.3108	7.0719	0.25183	0.1276:0.0:0.4985:0.3739	.	177	P61129	ZC3H6_HUMAN	T	177;177;154	ENSP00000386764:A177T;ENSP00000340298:A177T	ENSP00000340298:A177T	A	+	1	0	ZC3H6	112784125	1.000000	0.71417	0.957000	0.39632	0.921000	0.55340	2.213000	0.42844	0.061000	0.16311	-0.291000	0.09656	GCT		0.373	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		A	113067654	G	A	113067654	3	1	157	1	0	0	0	0	1	0	0	0	17576	971	34	2	543	2	ZC3H6	2	113067654	Missense_Mutation	SNP	G	TCGA-B0-4839-01A-01D-1373-10	38410509	113067654	130131719	9	9200											
C2orf67	151050	hgsc.bcm.edu	37	2	210896230	210896230	+	Silent	SNP	A	A	T	rs200159428		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr2:210896230A>T	ENST00000281772.9	-	9	2333	c.2070T>A	c.(2068-2070)ccT>ccA	p.P690P	KANSL1L_ENST00000418791.1_Intron|AC007038.7_ENST00000452057.1_RNA|RP11-260M2.1_ENST00000608095.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	690						histone acetyltransferase complex (GO:0000123)											GCTTACATATAGGTGAATATC	0.338																																																0													181	177	179					2																	210896230		2203	4299	6502	SO:0001819	synonymous_variant	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2070T>A	2.37:g.210896230A>T			B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	CCDS33370.1																																																																																				0.338	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		T	210896230	A	T	210896230	2	4	157	1	0	0	0	0	0	0	0	1	2188	407	15	5		5	C2orf67	2	210896230	Silent	SNP	A	TCGA-B0-4839-01A-01D-1373-10	97828576	210896230	32303143	10	9201											
NISCH	11188	hgsc.bcm.edu	37	3	52504925	52504925	+	Splice_Site	SNP	T	T	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr3:52504925T>A	ENST00000479054.1	+	5	481		c.e5+2		NISCH_ENST00000420808.2_Splice_Site|NISCH_ENST00000345716.4_Splice_Site|NISCH_ENST00000488380.1_Splice_Site			Q9Y2I1	NISCH_HUMAN	nischarin						actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TTGAGAAAGGTATGTGGCCAC	0.502																																																0													186	170	175					3																	52504925		2203	4300	6503	SO:0001630	splice_region_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.409+2T>A	3.37:g.52504925T>A			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Splice_Site	SNP	ENST00000479054.1	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743389	0.69418	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2904	0.66273	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NISCH	52479965	1.000000	0.71417	0.909000	0.35828	0.726000	0.41606	6.915000	0.75770	2.122000	0.65172	0.459000	0.35465	.		0.502	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184	Intron	A	52504925	T	A	52504925	5	1	157	1	0	0	0	0	0	0	1	0	10434	1652	57	5	425	5	NISCH	3	52504925	Splice_Site	SNP	T	TCGA-B0-4839-01A-01D-1373-10		52504925	145517505	11	9202											
STX19	415117	hgsc.bcm.edu;ucsc.edu	37	3	93733631	93733631	+	Silent	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr3:93733631C>T	ENST00000315099.2	-	2	739	c.483G>A	c.(481-483)aaG>aaA	p.K161K	ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	161					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						ATGTCTTGCACTTCTCTTGCT	0.363																																																0													142	136	138					3																	93733631		2203	4300	6503	SO:0001819	synonymous_variant	415117			AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.483G>A	3.37:g.93733631C>T				Silent	SNP	ENST00000315099.2	37	CCDS33793.1																																																																																				0.363	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		T	93733631	C	T	93733631	2	4	157	1	0	0	0	0	0	0	0	1	15347	564	20	2		2	STX19	3	93733631	Silent	SNP	C	TCGA-B0-4839-01A-01D-1373-10	41228706	93733631	104288799	12	9203											
CCDC80	151887	hgsc.bcm.edu;ucsc.edu	37	3	112357865	112357865	+	Silent	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr3:112357865G>A	ENST00000206423.3	-	2	1841	c.888C>T	c.(886-888)gaC>gaT	p.D296D	CCDC80_ENST00000439685.2_Silent_p.D296D|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	296					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.D296D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCCCTCCACCGTCATTCCCCT	0.592																																																1	Substitution - coding silent(1)	breast(1)											118	102	108					3																	112357865		2203	4300	6503	SO:0001819	synonymous_variant	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.888C>T	3.37:g.112357865G>A			D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	CCDS2968.1																																																																																				0.592	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		A	112357865	G	A	112357865	2	1	157	1	0	0	0	0	0	0	0	1	2856	1136	40	1		1	CCDC80	3	112357865	Silent	SNP	G	TCGA-B0-4839-01A-01D-1373-10	18624234	112357865	85664565	13	9204											
PPP2R2C	5522	hgsc.bcm.edu	37	4	6374376	6374376	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr4:6374376T>C	ENST00000382599.4	-	5	715	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I150V|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.I167V|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I160V|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I160V			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	167					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TTGGCAAAGATCCTCCGAGGG	0.582																																																0													211	175	187					4																	6374376		2203	4300	6503	SO:0001583	missense	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.499A>G	4.37:g.6374376T>C	ENSP00000372042:p.Ile167Val		A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37		.	.	.	.	.	.	.	.	.	.	T	2.158	-0.392877	0.04899	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	4.15	2.09	0.27110	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.259965	0.37053	N	0.002265	T	0.09818	0.0241	N	0.04018	-0.295	0.32668	N	0.517188	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;0.003;0.001;0.0;0.001	T	0.33497	-0.9866	10	0.02654	T	1	-27.6013	5.8373	0.18615	0.0:0.204:0.0:0.796	.	160;263;167;150;167	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	V	167;160;150;167;160	ENSP00000335083:I167V;ENSP00000423649:I160V;ENSP00000422374:I150V;ENSP00000372042:I167V;ENSP00000425247:I160V	ENSP00000335083:I167V	I	-	1	0	PPP2R2C	6425277	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.641000	0.46587	0.898000	0.36418	0.260000	0.18958	ATC		0.582	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		C	6374376	T	C	6374376	3	2	157	1	0	0	0	0	1	0	0	0	12391	1435	50	3	864	3	PPP2R2C	4	6374376	Missense_Mutation	SNP	T	TCGA-B0-4839-01A-01D-1373-10		6374376	184779900	14	9205											
CWH43	80157	hgsc.bcm.edu;ucsc.edu	37	4	49005767	49005767	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr4:49005767C>T	ENST00000226432.4	+	7	1001	c.818C>T	c.(817-819)gCg>gTg	p.A273V	CWH43_ENST00000513409.1_Missense_Mutation_p.A246V	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	273					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTTCAGCTGCGGGGCTCCTT	0.493																																																0													77	77	77					4																	49005767		2203	4300	6503	SO:0001583	missense	80157				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.818C>T	4.37:g.49005767C>T	ENSP00000226432:p.Ala273Val		B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	C	9.485	1.099198	0.20552	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.46451	1.45;0.87	3.78	-2.58	0.06228	.	0.841053	0.10224	N	0.700536	T	0.28433	0.0703	L	0.35723	1.085	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24835	-1.0149	9	.	.	.	.	9.3891	0.38361	0.0:0.458:0.0:0.542	.	273	Q9H720	PG2IP_HUMAN	V	273;246	ENSP00000226432:A273V;ENSP00000422802:A246V	.	A	+	2	0	CWH43	48700524	0.008000	0.16893	0.000000	0.03702	0.003000	0.03518	0.195000	0.17155	-0.665000	0.05317	-0.424000	0.05967	GCG		0.493	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		T	49005767	C	T	49005767	3	4	157	1	0	0	0	0	1	0	0	0	4075	768	27	1	844	1	CWH43	4	49005767	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10	42631391	49005767	142148509	15	9206											
ANKRD17	26057	hgsc.bcm.edu;ucsc.edu	37	4	73986632	73986632	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr4:73986632A>G	ENST00000358602.4	-	20	3931	c.3815T>C	c.(3814-3816)cTt>cCt	p.L1272P	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1159P|ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1021P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1272					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTCTATCAAGCAGAAGACT	0.373																																																0													118	109	112					4																	73986632		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3815T>C	4.37:g.73986632A>G	ENSP00000351416:p.Leu1272Pro		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486837	0.84854	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.19806	2.12;2.12;2.12	5.88	5.88	0.94601	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000018	T	0.60599	0.2281	H	0.95328	3.655	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.997;0.982;0.982;0.99;0.999	T	0.73733	-0.3890	10	0.87932	D	0	.	16.2881	0.82732	1.0:0.0:0.0:0.0	.	793;1271;1021;1272;1159	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	P	1272;1021;1159	ENSP00000351416:L1272P;ENSP00000332265:L1021P;ENSP00000427151:L1159P	ENSP00000332265:L1021P	L	-	2	0	ANKRD17	74205496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.227000	0.72691	0.528000	0.53228	CTT		0.373	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		G	73986632	A	G	73986632	3	3	157	1	0	0	0	0	1	0	0	0	646	72	3	3	4056	3	ANKRD17	4	73986632	Missense_Mutation	SNP	A	TCGA-B0-4839-01A-01D-1373-10	24980865	73986632	117167644	16	9207											
SDAD1	55153	hgsc.bcm.edu;ucsc.edu	37	4	76878693	76878693	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr4:76878693T>C	ENST00000356260.5	-	19	1865	c.1747A>G	c.(1747-1749)Ata>Gta	p.I583V	SDAD1_ENST00000395711.4_Missense_Mutation_p.I546V|SDAD1_ENST00000513089.1_5'Flank	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	583					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCACTGTCTATTTCAATGTAT	0.423																																																0													135	134	135					4																	76878693		2203	4300	6503	SO:0001583	missense	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1747A>G	4.37:g.76878693T>C	ENSP00000348596:p.Ile583Val		Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	T	1.327	-0.597966	0.03771	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.21543	2.0;2.0	5.15	2.54	0.30619	SDA1 (1);	0.462012	0.24029	N	0.042220	T	0.09158	0.0226	N	0.11560	0.145	0.09310	N	1	B;B	0.21071	0.004;0.051	B;B	0.20577	0.007;0.03	T	0.33954	-0.9848	10	0.16420	T	0.52	-10.0509	6.9385	0.24481	0.0:0.0849:0.1493:0.7657	.	546;583	E7EW05;Q9NVU7	.;SDA1_HUMAN	V	583;546	ENSP00000348596:I583V;ENSP00000379061:I546V	ENSP00000348596:I583V	I	-	1	0	SDAD1	77097717	1.000000	0.71417	0.679000	0.29978	0.510000	0.34073	1.654000	0.37334	0.925000	0.37094	0.528000	0.53228	ATA		0.423	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		C	76878693	T	C	76878693	3	2	157	1	0	0	0	0	1	0	0	0	13956	1493	52	3	332	3	SDAD1	4	76878693	Missense_Mutation	SNP	T	TCGA-B0-4839-01A-01D-1373-10	2892061	76878693	114275583	17	9208											
HNRPDL	9987	hgsc.bcm.edu;ucsc.edu	37	4	83347663	83347663	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr4:83347663T>C	ENST00000295470.5	-	6	1320	c.1145A>G	c.(1144-1146)tAt>tGt	p.Y382C	HNRNPDL_ENST00000602300.1_Missense_Mutation_p.Y263C|HNRNPDL_ENST00000349655.4_Intron|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.Y382C|HNRNPDL_ENST00000514511.1_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	382	Gly-rich.|Necessary for interaction with TNPO1.|Tyr-rich.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CCCATAGTTATACCCAGTATA	0.323																																																0													120	115	116					4																	83347663		2203	4300	6503	SO:0001583	missense	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.1145A>G	4.37:g.83347663T>C	ENSP00000295470:p.Tyr382Cys		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	t	9.067	0.996060	0.19043	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	D;D	0.86230	-2.09;-2.09	5.74	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.84334	0.5449	M	0.63208	1.945	0.80722	D	1	D	0.55172	0.97	B	0.40741	0.339	D	0.83937	0.0309	10	0.51188	T	0.08	.	12.2825	0.54771	0.1272:0.0:0.0:0.8728	.	382	O14979	HNRDL_HUMAN	C	382	ENSP00000295470:Y382C;ENSP00000422040:Y382C	ENSP00000295470:Y382C	Y	-	2	0	HNRPDL	83566687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.523000	0.67099	1.069000	0.40788	0.459000	0.35465	TAT		0.323	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		C	83347663	T	C	83347663	3	2	157	1	0	0	0	0	1	0	0	0	7278	1406	49	3	125	3	HNRPDL	4	83347663	Missense_Mutation	SNP	T	TCGA-B0-4839-01A-01D-1373-10	6468970	83347663	107806613	18	9209											
RANBP3L	202151	hgsc.bcm.edu;ucsc.edu	37	5	36301485	36301485	+	Silent	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr5:36301485G>A	ENST00000296604.3	-	1	519	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	RANBP3L_ENST00000515759.1_Silent_p.L12L|RANBP3L_ENST00000502994.1_Silent_p.L12L	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	12					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CTGCCAGGCAGGTGGCTGCTG	0.532																																																0													157	145	149					5																	36301485		2203	4300	6503	SO:0001819	synonymous_variant	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.34C>T	5.37:g.36301485G>A			B7Z866|E9PGP9|Q96LK2	Silent	SNP	ENST00000296604.3	37	CCDS3918.1																																																																																				0.532	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		A	36301485	G	A	36301485	2	1	157	1	0	0	0	0	0	0	0	1	13036	991	35	2		2	RANBP3L	5	36301485	Silent	SNP	G	TCGA-B0-4839-01A-01D-1373-10		36301485	144613775	19	9210											
FTMT	94033	hgsc.bcm.edu;ucsc.edu	37	5	121188165	121188165	+	Missense_Mutation	SNP	C	C	A	rs180751758	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr5:121188165C>A	ENST00000321339.1	+	1	516	c.507C>A	c.(505-507)aaC>aaA	p.N169K		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	169	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGAAAAGAACGTGAACCAGT	0.542																																																0													121	112	115					5																	121188165		2203	4300	6503	SO:0001583	missense	94033			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.507C>A	5.37:g.121188165C>A	ENSP00000313691:p.Asn169Lys			Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347567	0.24426	.	.	ENSG00000181867	ENST00000321339	T	0.61274	0.12	3.53	-6.21	0.02065	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.339756	0.28125	N	0.016502	T	0.40272	0.1110	L	0.43554	1.36	0.34129	D	0.665	B	0.21452	0.056	B	0.22601	0.04	T	0.04242	-1.0966	10	0.36615	T	0.2	.	9.4804	0.38898	0.0:0.6103:0.1465:0.2432	.	169	Q8N4E7	FTMT_HUMAN	K	169	ENSP00000313691:N169K	ENSP00000313691:N169K	N	+	3	2	FTMT	121216064	0.000000	0.05858	0.015000	0.15790	0.956000	0.61745	-2.596000	0.00895	-1.260000	0.02465	-1.480000	0.00990	AAC		0.542	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		A	121188165	C	A	121188165	3	1	157	1	0	0	0	0	1	0	0	0	6087	535	19	4	509	4	FTMT	5	121188165	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10	84886680	121188165	59727095	20	9211											
PPARGC1B	133522	hgsc.bcm.edu	37	5	149210396	149210396	+	Missense_Mutation	SNP	G	G	C	rs189353551		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr5:149210396G>C	ENST00000309241.5	+	4	564	c.532G>C	c.(532-534)Gcc>Ccc	p.A178P	PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A178P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	178					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAAGGGACCGCCTGGCGCCA	0.577																																																0													99	104	102					5																	149210396		2203	4300	6503	SO:0001583	missense	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.532G>C	5.37:g.149210396G>C	ENSP00000312649:p.Ala178Pro		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839278	0.71373	.	.	ENSG00000155846	ENST00000394320;ENST00000309241	T;T	0.09723	2.95;2.96	5.29	-9.07	0.00724	.	0.903404	0.09510	N	0.792383	T	0.09862	0.0242	L	0.59436	1.845	0.36951	D	0.892856	B;B;B;P	0.51537	0.003;0.018;0.002;0.946	B;B;B;P	0.49683	0.013;0.019;0.003;0.619	T	0.49293	-0.8955	10	0.25751	T	0.34	-6.896	1.4094	0.02287	0.3069:0.083:0.2312:0.3789	.	157;157;178;178	Q86YN6-2;Q86YN6-4;Q86YN6;Q86YN6-3	.;.;PRGC2_HUMAN;.	P	178	ENSP00000377855:A178P;ENSP00000312649:A178P	ENSP00000312649:A178P	A	+	1	0	PPARGC1B	149190589	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	-0.281000	0.08456	-1.252000	0.02491	0.561000	0.74099	GCC		0.577	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		C	149210396	G	C	149210396	3	2	157	1	0	0	0	0	1	0	0	0	12303	1087	38	4	553	4	PPARGC1B	5	149210396	Missense_Mutation	SNP	G	TCGA-B0-4839-01A-01D-1373-10	28022231	149210396	31704864	21	9212											
HAND1	9421	hgsc.bcm.edu	37	5	153857038	153857038	+	Silent	SNP	C	C	G	rs34198899	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr5:153857038C>G	ENST00000231121.2	-	1	786	c.531G>C	c.(529-531)cgG>cgC	p.R177R		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	177					angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCTCCCTTTTCCGCTTGCTCT	0.617													C|||	138	0.0275559	0.0015	0.0663	5008	,	,		17868	0.001		0.0596	False		,,,				2504	0.0297															0								C		43,4363	44.6+/-78.6	1,41,2161	78	78	78		531	3.3	1	5	dbSNP_126	78	499,8101	143.0+/-199.1	20,459,3821	no	coding-synonymous	HAND1	NM_004821.2		21,500,5982	GG,GC,CC		5.8023,0.9759,4.1673		177/216	153857038	542,12464	2203	4300	6503	SO:0001819	synonymous_variant	9421			AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"Basic helix-loop-helix proteins"	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.531G>C	5.37:g.153857038C>G				Silent	SNP	ENST00000231121.2	37	CCDS4327.1																																																																																				0.617	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252511.1	NM_004821		G	153857038	C	G	153857038	2	3	157	1	0	0	0	0	0	0	0	1	6951	842	30	4		4	HAND1	5	153857038	Silent	SNP	C	TCGA-B0-4839-01A-01D-1373-10	4646642	153857038	27058222	22	9213											
ODZ2	57451	hgsc.bcm.edu	37	5	167689204	167689204	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr5:167689204A>C	ENST00000518659.1	+	29	7753	c.7714A>C	c.(7714-7716)Atc>Ctc	p.I2572L	TENM2_ENST00000519204.1_Missense_Mutation_p.I2451L|TENM2_ENST00000403607.2_Missense_Mutation_p.I2396L|TENM2_ENST00000545108.1_Missense_Mutation_p.I2571L|TENM2_ENST00000520394.1_Missense_Mutation_p.I2333L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2572					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGGCAAAGGCATCATGTTTGC	0.557																																																0													29	32	31					5																	167689204		2040	4207	6247	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7714A>C	5.37:g.167689204A>C	ENSP00000429430:p.Ile2572Leu		Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	A	11.93	1.785016	0.31593	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.91464	-2.37;-2.36;-2.49;-2.83;-2.85	5.42	3.02	0.34903	.	0.201159	0.51477	D	0.000082	D	0.85613	0.5737	L	0.43923	1.385	0.36907	D	0.890709	B;B;B	0.23249	0.082;0.049;0.007	B;B;B	0.24394	0.053;0.024;0.006	T	0.81230	-0.1027	10	0.46703	T	0.11	.	9.8695	0.41166	0.8602:0.0:0.1398:0.0	.	2571;2572;2333	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	2572;2571;2451;2333;2396	ENSP00000429430:I2572L;ENSP00000438635:I2571L;ENSP00000428964:I2451L;ENSP00000427874:I2333L;ENSP00000384905:I2396L	ENSP00000384905:I2396L	I	+	1	0	ODZ2	167621782	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.537000	0.60643	0.438000	0.26450	0.533000	0.62120	ATC		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		C	167689204	A	C	167689204	3	2	157	1	0	0	0	0	1	0	0	0	10837	217	8	5	7801	5	ODZ2	5	167689204	Missense_Mutation	SNP	A	TCGA-B0-4839-01A-01D-1373-10	13832166	167689204	13226056	23	9214											
TCP11	6954	hgsc.bcm.edu;ucsc.edu	37	6	35089937	35089937	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr6:35089937C>G	ENST00000512012.1	-	4	691	c.535G>C	c.(535-537)Gtg>Ctg	p.V179L	TCP11_ENST00000412155.2_Missense_Mutation_p.V141L|TCP11_ENST00000373979.2_Missense_Mutation_p.V117L|TCP11_ENST00000311875.5_Missense_Mutation_p.V192L|TCP11_ENST00000418521.2_Missense_Mutation_p.V116L|TCP11_ENST00000444780.2_Missense_Mutation_p.V187L|TCP11_ENST00000244645.3_Missense_Mutation_p.V117L|TCP11_ENST00000373974.4_Missense_Mutation_p.V146L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	179					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGTTTCTGCACTGCTTCATCT	0.488																																																0													137	125	129					6																	35089937		2203	4300	6503	SO:0001583	missense	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.535G>C	6.37:g.35089937C>G	ENSP00000425995:p.Val179Leu		B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37		.	.	.	.	.	.	.	.	.	.	C	12.21	1.868704	0.32977	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638	T;T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	4.18	2.39	0.29439	.	0.152547	0.42964	N	0.000623	T	0.13200	0.0320	M	0.87682	2.9	0.46499	D	0.999072	B;B;B;B;B;B	0.28470	0.087;0.087;0.087;0.213;0.087;0.074	B;B;B;B;B;B	0.35813	0.133;0.133;0.133;0.211;0.133;0.104	T	0.02698	-1.1122	10	0.48119	T	0.1	.	4.9112	0.13823	0.0:0.5905:0.1859:0.2236	.	146;141;187;252;179;117	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	L	117;141;117;141;192;187;146;116;179;38	ENSP00000363091:V117L;ENSP00000402816:V141L;ENSP00000244645:V117L;ENSP00000308708:V192L;ENSP00000404479:V187L;ENSP00000363085:V146L;ENSP00000415320:V116L;ENSP00000425995:V179L;ENSP00000421103:V38L	ENSP00000244645:V117L	V	-	1	0	TCP11	35197915	0.095000	0.21747	0.982000	0.44146	0.628000	0.37860	0.520000	0.22878	1.124000	0.41980	-0.223000	0.12442	GTG		0.488	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		G	35089937	C	G	35089937	3	3	157	1	0	0	0	0	1	0	0	0	15718	565	20	4	1000	4	TCP11	6	35089937	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10		35089937	136025130	24	9215											
FAM83B	222584	hgsc.bcm.edu	37	6	54804856	54804856	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr6:54804856G>T	ENST00000306858.7	+	5	1203	c.1087G>T	c.(1087-1089)Gtt>Ttt	p.V363F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	363										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACCTCATTTTGTTCCTAACTT	0.343																																																0													62	61	61					6																	54804856		2203	4299	6502	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1087G>T	6.37:g.54804856G>T	ENSP00000304078:p.Val363Phe		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	5.478	0.273252	0.10403	.	.	ENSG00000168143	ENST00000306858	T	0.07216	3.21	5.28	-1.68	0.08212	.	1.333630	0.04776	N	0.428878	T	0.01695	0.0054	L	0.51422	1.61	0.24333	N	0.994991	B	0.22003	0.063	B	0.21917	0.037	T	0.40175	-0.9577	10	0.07482	T	0.82	-1.1156	2.869	0.05610	0.2504:0.2807:0.3734:0.0955	.	363	Q5T0W9	FA83B_HUMAN	F	363	ENSP00000304078:V363F	ENSP00000304078:V363F	V	+	1	0	FAM83B	54912815	0.000000	0.05858	0.904000	0.35570	0.273000	0.26683	-1.277000	0.02812	-0.207000	0.10187	-0.350000	0.07774	GTT		0.343	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		T	54804856	G	T	54804856	3	4	157	1	0	0	0	0	1	0	0	0	5636	1377	48	4	1101	4	FAM83B	6	54804856	Missense_Mutation	SNP	G	TCGA-B0-4839-01A-01D-1373-10	19714919	54804856	116310211	25	9216											
IFNGR1	3459	hgsc.bcm.edu;ucsc.edu	37	6	137519571	137519571	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr6:137519571A>C	ENST00000367739.4	-	7	1188	c.1067T>G	c.(1066-1068)gTg>gGg	p.V356G	IFNGR1_ENST00000543628.1_Missense_Mutation_p.V328G	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	356					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TTCAGTAGTCACCACTTCTGT	0.453																																																0													129	126	127					6																	137519571		2203	4300	6503	SO:0001583	missense	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1067T>G	6.37:g.137519571A>C	ENSP00000356713:p.Val356Gly		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858686	0.32791	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.73469	-0.75;-0.59	6.06	-0.681	0.11342	.	2.049640	0.02149	N	0.057840	T	0.45034	0.1322	L	0.39898	1.24	0.09310	N	1	B;B	0.22683	0.063;0.073	B;B	0.19946	0.027;0.022	T	0.39354	-0.9618	10	0.72032	D	0.01	-0.0011	4.6803	0.12732	0.4724:0.293:0.2345:0.0	.	328;356	F5H5M7;P15260	.;INGR1_HUMAN	G	356;328	ENSP00000356713:V356G;ENSP00000443282:V328G	ENSP00000356713:V356G	V	-	2	0	IFNGR1	137561264	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.255000	0.18333	-0.091000	0.12440	0.533000	0.62120	GTG		0.453	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			C	137519571	A	C	137519571	3	2	157	1	0	0	0	0	1	0	0	0	7551	159	6	5	406	5	IFNGR1	6	137519571	Missense_Mutation	SNP	A	TCGA-B0-4839-01A-01D-1373-10	82714715	137519571	33595496	26	9217											
ABCA13	154664	hgsc.bcm.edu	37	7	48428725	48428725	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr7:48428725C>A	ENST00000435803.1	+	37	11586	c.11562C>A	c.(11560-11562)caC>caA	p.H3854Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3854	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGAGGGCCACAAGGCTGTGG	0.562																																																0													70	72	71					7																	48428725		1919	4145	6064	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11562C>A	7.37:g.48428725C>A	ENSP00000411096:p.His3854Gln		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	6.516	0.463477	0.12402	.	.	ENSG00000179869	ENST00000435803	D	0.93076	-3.16	4.59	4.59	0.56863	ABC transporter-like (1);	0.513490	0.16367	N	0.217507	D	0.83031	0.5166	N	0.04132	-0.27	0.23192	N	0.998146	B;B	0.27140	0.169;0.158	B;B	0.26864	0.031;0.074	T	0.73116	-0.4084	10	0.33141	T	0.24	.	9.1258	0.36814	0.0:0.897:0.0:0.103	.	1556;3854	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	Q	3854	ENSP00000411096:H3854Q	ENSP00000411096:H3854Q	H	+	3	2	ABCA13	48399271	0.000000	0.05858	0.182000	0.23118	0.277000	0.26821	-0.060000	0.11712	2.254000	0.74563	0.655000	0.94253	CAC		0.562	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48428725	C	A	48428725	3	1	157	1	0	0	0	0	1	0	0	0	31	477	17	4	11537	4	ABCA13	7	48428725	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10		48428725	110709938	27	9218											
STC1	6781	hgsc.bcm.edu	37	8	23702339	23702339	+	Silent	SNP	G	G	T	rs143563807		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr8:23702339G>T	ENST00000290271.2	-	4	971	c.688C>A	c.(688-690)Cga>Aga	p.R230R	STC1_ENST00000524323.1_Silent_p.R161R	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	230					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R230G(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCCTCACCTCGGAGGTTCCTG	0.527																																																1	Substitution - Missense(1)	skin(1)											132	111	118					8																	23702339		2203	4300	6503	SO:0001819	synonymous_variant	6781				CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.688C>A	8.37:g.23702339G>T			B4DN22|Q71UE5	Silent	SNP	ENST00000290271.2	37	CCDS6043.1																																																																																				0.527	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			T	23702339	G	T	23702339	2	4	157	1	0	0	0	0	0	0	0	1	15280	1124	39	4		4	STC1	8	23702339	Silent	SNP	G	TCGA-B0-4839-01A-01D-1373-10		23702339	122661683	28	9219											
WHSC1L1	54904	hgsc.bcm.edu;ucsc.edu	37	8	38205403	38205403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr8:38205403G>T	ENST00000317025.8	-	2	804	c.287C>A	c.(286-288)tCa>tAa	p.S96*	WHSC1L1_ENST00000316985.3_Nonsense_Mutation_p.S96*|WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.S96*|WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.S96*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	96					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GCCATTGGCTGACCCATTAGG	0.393			T	NUP98	AML																																		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													200	188	192					8																	38205403		2203	4300	6503	SO:0001587	stop_gained	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.287C>A	8.37:g.38205403G>T	ENSP00000313983:p.Ser96*		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	38	7.150770	0.98096	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000527502;ENST00000316985;ENST00000529223	.	.	.	5.69	5.69	0.88448	.	0.000000	0.40064	U	0.001188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8068	0.96534	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000313410:S96X	S	-	2	0	WHSC1L1	38324560	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.415000	0.97375	2.658000	0.90341	0.655000	0.94253	TCA		0.393	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		T	38205403	G	T	38205403	4	4	157	1	0	0	0	0	0	1	0	0	17368	1294	45	4	4205	4	WHSC1L1	8	38205403	Nonsense_Mutation	SNP	G	TCGA-B0-4839-01A-01D-1373-10	14503064	38205403	108158619	29	9220											
KCNK9	51305	hgsc.bcm.edu	37	8	140631095	140631095	+	Silent	SNP	G	G	A	rs192943243		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr8:140631095G>A	ENST00000520439.1	-	2	594	c.531C>T	c.(529-531)gcC>gcT	p.A177A	KCNK9_ENST00000303015.1_Silent_p.A177A|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	177					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	ACTGGGAGAAGGCGGCCGCCC	0.577																																																0													99	93	95					8																	140631095		2203	4300	6503	SO:0001819	synonymous_variant	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.531C>T	8.37:g.140631095G>A			Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	CCDS6377.1																																																																																				0.577	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		A	140631095	G	A	140631095	2	1	157	1	0	0	0	0	0	0	0	1	8074	987	35	2		2	KCNK9	8	140631095	Silent	SNP	G	TCGA-B0-4839-01A-01D-1373-10	102425692	140631095	5732927	30	9221											
BNC2	54796	hgsc.bcm.edu;ucsc.edu	37	9	16419303	16419303	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr9:16419303C>G	ENST00000380672.4	-	7	3041	c.2984G>C	c.(2983-2985)gGg>gCg	p.G995A	BNC2_ENST00000380667.2_Missense_Mutation_p.G928A|BNC2_ENST00000545497.1_Missense_Mutation_p.G900A	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTCACTCGCCCCGTCAATGTC	0.592																																																0													84	80	82					9																	16419303		2203	4300	6503	SO:0001583	missense	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2984G>C	9.37:g.16419303C>G	ENSP00000370047:p.Gly995Ala			Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963156	0.34659	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.29917	1.55;1.56;1.56	6.08	6.08	0.98989	.	0.152356	0.64402	D	0.000017	T	0.36717	0.0977	L	0.55481	1.735	0.80722	D	1	P;P;P	0.46987	0.827;0.734;0.888	B;B;B	0.44133	0.442;0.321;0.355	T	0.02398	-1.1165	10	0.20046	T	0.44	-18.0841	20.6721	0.99693	0.0:1.0:0.0:0.0	.	900;995;760	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	A	995;928;900	ENSP00000370047:G995A;ENSP00000370042:G928A;ENSP00000444640:G900A	ENSP00000370042:G928A	G	-	2	0	BNC2	16409303	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.593000	0.54001	2.894000	0.99253	0.591000	0.81541	GGG		0.592	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		G	16419303	C	G	16419303	3	3	157	1	0	0	0	0	1	0	0	0	1475	623	22	4	319	4	BNC2	9	16419303	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10		16419303	124794128	31	9222											
AMBP	259	hgsc.bcm.edu	37	9	116839007	116839007	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr9:116839007C>A	ENST00000265132.3	-	2	393	c.131G>T	c.(130-132)tGg>tTg	p.W44L		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	44					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGGTTGTACCACTTCCCATA	0.597																																																0													113	80	91					9																	116839007		2203	4300	6503	SO:0001583	missense	259			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.131G>T	9.37:g.116839007C>A	ENSP00000265132:p.Trp44Leu		P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590052	0.66105	.	.	ENSG00000106927	ENST00000265132	D	0.99552	-6.15	3.86	3.86	0.44501	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.99557	0.9841	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98070	1.0398	10	0.87932	D	0	.	11.1857	0.48655	0.0:1.0:0.0:0.0	.	44	P02760	AMBP_HUMAN	L	44	ENSP00000265132:W44L	ENSP00000265132:W44L	W	-	2	0	AMBP	115878828	1.000000	0.71417	0.975000	0.42487	0.965000	0.64279	4.577000	0.60922	1.994000	0.58287	0.561000	0.74099	TGG		0.597	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		A	116839007	C	A	116839007	3	1	157	1	0	0	0	0	1	0	0	0	564	595	21	4	963	4	AMBP	9	116839007	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10	100419704	116839007	24374424	32	9223											
IL15RA	3601	hgsc.bcm.edu	37	10	6001726	6001726	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr10:6001726C>G	ENST00000379977.3	-	5	704	c.607G>C	c.(607-609)Gac>Cac	p.D203H	IL15RA_ENST00000530685.1_Missense_Mutation_p.D170H|IL15RA_ENST00000397251.3_Missense_Mutation_p.D138H|IL15RA_ENST00000528354.1_Missense_Mutation_p.D170H|IL15RA_ENST00000397250.2_Missense_Mutation_p.D105H|IL15RA_ENST00000379971.1_Missense_Mutation_p.D105H|IL15RA_ENST00000525219.2_Missense_Mutation_p.D167H|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397248.2_Missense_Mutation_p.D167H|IL15RA_ENST00000397255.3_Missense_Mutation_p.D203H			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	203					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCAGTGGTGTCGCTGTGGCCC	0.582																																																0													128	88	102					10																	6001726		2203	4300	6503	SO:0001583	missense	3601			U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"Interleukins and interleukin receptors", "CD molecules"	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.607G>C	10.37:g.6001726C>G	ENSP00000369312:p.Asp203His		B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	ENST00000379977.3	37	CCDS7074.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575944	0.28092	.	.	ENSG00000134470	ENST00000397246;ENST00000397251;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000397250;ENST00000379971;ENST00000530685;ENST00000397255;ENST00000525219;ENST00000429135	T;T;T;T;T;T;T;T;T	0.45668	1.56;1.56;1.56;1.56;1.56;0.89;1.92;1.56;1.9	3.62	-1.46	0.08800	.	3.884320	0.00664	N	0.000605	T	0.25382	0.0617	N	0.03608	-0.345	0.09310	N	1	D;D;P	0.54772	0.968;0.968;0.833	P;P;B	0.45856	0.495;0.495;0.437	T	0.16012	-1.0417	10	0.44086	T	0.13	-6.0432	7.3632	0.26758	0.0:0.4193:0.0:0.5807	.	170;203;167	Q13261-3;Q13261;E7ETI1	.;I15RA_HUMAN;.	H	167;138;203;167;167;170;105;105;170;203;138;170	ENSP00000380423:D138H;ENSP00000369312:D203H;ENSP00000380421:D167H;ENSP00000435454:D170H;ENSP00000380422:D105H;ENSP00000369306:D105H;ENSP00000435995:D170H;ENSP00000380426:D203H;ENSP00000395113:D170H	ENSP00000322245:D167H	D	-	1	0	IL15RA	6041732	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.220000	0.02971	-0.316000	0.08690	-0.672000	0.03802	GAC		0.582	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	NM_172200, NM_002189		G	6001726	C	G	6001726	3	3	157	1	0	0	0	0	1	0	0	0	7634	884	31	4	208	4	IL15RA	10	6001726	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10		6001726	129533021	33	9224											
ZNF438	220929	hgsc.bcm.edu;ucsc.edu	37	10	31137593	31137593	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr10:31137593C>A	ENST00000361310.3	-	6	2070	c.1741G>T	c.(1741-1743)Gtc>Ttc	p.V581F	ZNF438_ENST00000538351.2_Missense_Mutation_p.V532F|ZNF438_ENST00000331737.6_Missense_Mutation_p.V571F|ZNF438_ENST00000436087.2_Missense_Mutation_p.V581F|ZNF438_ENST00000375311.1_Missense_Mutation_p.V145F|ZNF438_ENST00000442986.1_Missense_Mutation_p.V581F|ZNF438_ENST00000413025.1_Missense_Mutation_p.V581F|ZNF438_ENST00000444692.2_Missense_Mutation_p.V571F|ZNF438_ENST00000452305.1_Missense_Mutation_p.V571F			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	581					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CCAAAATAGACTCGGATGTGG	0.478																																																0													134	125	128					10																	31137593		2203	4300	6503	SO:0001583	missense	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1741G>T	10.37:g.31137593C>A	ENSP00000354663:p.Val581Phe		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281386	0.80692	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84;2.84;2.84;2.84	5.24	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.056368	0.64402	D	0.000001	T	0.29684	0.0741	M	0.72894	2.215	0.54753	D	0.999987	D;D	0.89917	0.999;1.0	D;D	0.69824	0.925;0.966	T	0.01670	-1.1299	10	0.44086	T	0.13	-19.416	12.9016	0.58128	0.0:0.9208:0.0:0.0792	.	581;571	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	F	571;581;581;581;581;571;571;532;300;145	ENSP00000333571:V571F;ENSP00000354663:V581F;ENSP00000406934:V581F;ENSP00000412363:V581F;ENSP00000387546:V581F;ENSP00000413060:V571F;ENSP00000410898:V571F;ENSP00000445461:V532F;ENSP00000364460:V145F	ENSP00000333571:V571F	V	-	1	0	ZNF438	31177599	1.000000	0.71417	0.963000	0.40424	0.977000	0.68977	5.471000	0.66762	1.202000	0.43218	0.467000	0.42956	GTC		0.478	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		A	31137593	C	A	31137593	3	1	157	1	0	0	0	0	1	0	0	0	17915	565	20	4	753	4	ZNF438	10	31137593	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10	25135867	31137593	104397154	34	9225											
DCLRE1A	9937	hgsc.bcm.edu;ucsc.edu	37	10	115609997	115609997	+	Silent	SNP	T	T	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr10:115609997T>A	ENST00000361384.2	-	2	1784	c.867A>T	c.(865-867)ccA>ccT	p.P289P	DCLRE1A_ENST00000369305.1_Silent_p.P289P	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	289					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGTCATTTTCTGGCAATGGCA	0.378								Other identified genes with known or suspected DNA repair function																																								0													116	111	113					10																	115609997		2203	4300	6503	SO:0001819	synonymous_variant	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.867A>T	10.37:g.115609997T>A			D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	ENST00000361384.2	37	CCDS7584.1																																																																																				0.378	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		A	115609997	T	A	115609997	2	1	157	1	0	0	0	0	0	0	0	1	4296	1567	55	5		5	DCLRE1A	10	115609997	Silent	SNP	T	TCGA-B0-4839-01A-01D-1373-10	84472404	115609997	19924750	35	9226											
NLRP10	338322	hgsc.bcm.edu	37	11	7981300	7981300	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:7981300G>A	ENST00000328600.2	-	2	2020	c.1859C>T	c.(1858-1860)tCt>tTt	p.S620F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	620					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCATGGACAGAAGGACATTT	0.393																																																0													93	86	89					11																	7981300		2201	4295	6496	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1859C>T	11.37:g.7981300G>A	ENSP00000327763:p.Ser620Phe		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.543940	0.00934	.	.	ENSG00000182261	ENST00000328600	T	0.79940	-1.32	3.25	-6.5	0.01884	.	4.693950	0.00924	N	0.002634	T	0.55800	0.1943	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50808	-0.8784	10	0.41790	T	0.15	.	1.4505	0.02374	0.1823:0.231:0.3541:0.2326	.	620	Q86W26	NAL10_HUMAN	F	620	ENSP00000327763:S620F	ENSP00000327763:S620F	S	-	2	0	NLRP10	7937876	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.226000	0.02953	-3.014000	0.00272	-1.008000	0.02478	TCT		0.393	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		A	7981300	G	A	7981300	3	1	157	1	0	0	0	0	1	0	0	0	10474	942	33	2	112	2	NLRP10	11	7981300	Missense_Mutation	SNP	G	TCGA-B0-4839-01A-01D-1373-10		7981300	127025216	36	9227	74	2									
NLRP10	338322	hgsc.bcm.edu	37	11	7981306	7981306	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:7981306C>A	ENST00000328600.2	-	2	2014	c.1853G>T	c.(1852-1854)tGt>tTt	p.C618F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	618					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACAGAAGGACATTTTTGCTC	0.398																																																0													97	89	91					11																	7981306		2201	4295	6496	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1853G>T	11.37:g.7981306C>A	ENSP00000327763:p.Cys618Phe		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	9.233	1.036302	0.19669	.	.	ENSG00000182261	ENST00000328600	D	0.87571	-2.27	3.25	2.34	0.29019	.	1.346570	0.05421	N	0.544148	T	0.74658	0.3745	N	0.19112	0.55	0.09310	N	1	P	0.46277	0.875	B	0.38327	0.271	T	0.64504	-0.6392	10	0.09843	T	0.71	.	6.7198	0.23325	0.0:0.8703:0.0:0.1297	.	618	Q86W26	NAL10_HUMAN	F	618	ENSP00000327763:C618F	ENSP00000327763:C618F	C	-	2	0	NLRP10	7937882	0.000000	0.05858	0.007000	0.13788	0.016000	0.09150	0.179000	0.16840	0.970000	0.38263	-0.217000	0.12591	TGT		0.398	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		A	7981306	C	A	7981306	3	1	157	1	0	0	0	0	1	0	0	0	10474	478	17	4	118	4	NLRP10	11	7981306	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10	6	7981306	127025210	37	9228	74	2									
LRP4	4038	hgsc.bcm.edu	37	11	46914588	46914588	+	Silent	SNP	G	G	T	rs371763360		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:46914588G>T	ENST00000378623.1	-	13	1875	c.1633C>A	c.(1633-1635)Cgg>Agg	p.R545R		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	545					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AACACTTTCCGGTGGGCCCCA	0.582																																																0													46	42	44					11																	46914588		2201	4299	6500	SO:0001819	synonymous_variant	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1633C>A	11.37:g.46914588G>T			B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																				0.582	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		T	46914588	G	T	46914588	2	4	157	1	0	0	0	0	0	0	0	1	8961	1115	39	4		4	LRP4	11	46914588	Silent	SNP	G	TCGA-B0-4839-01A-01D-1373-10	38933282	46914588	88091928	38	9229											
SSRP1	6749	hgsc.bcm.edu;ucsc.edu	37	11	57100524	57100524	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:57100524T>G	ENST00000278412.2	-	5	712	c.446A>C	c.(445-447)gAa>gCa	p.E149A		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	149					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TTGGTGGAATTCCAGTGTCAC	0.552																																					Colon(89;1000 1340 6884 23013 41819)											0													192	159	170					11																	57100524		2201	4296	6497	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.446A>C	11.37:g.57100524T>G	ENSP00000278412:p.Glu149Ala		Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769881	0.90020	.	.	ENSG00000149136	ENST00000278412;ENST00000526696;ENST00000529002	T;T;T	0.60171	0.21;0.21;0.21	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.81973	0.4936	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.83275	0.996;0.992	D	0.86334	0.1700	10	0.87932	D	0	.	16.2378	0.82389	0.0:0.0:0.0:1.0	.	448;149	Q59GH7;Q08945	.;SSRP1_HUMAN	A	149;52;52	ENSP00000278412:E149A;ENSP00000431154:E52A;ENSP00000434546:E52A	ENSP00000278412:E149A	E	-	2	0	SSRP1	56857100	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.615000	0.83006	2.317000	0.78254	0.459000	0.35465	GAA		0.552	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		G	57100524	T	G	57100524	3	3	157	1	0	0	0	0	1	0	0	0	15199	1783	62	5	1735	5	SSRP1	11	57100524	Missense_Mutation	SNP	T	TCGA-B0-4839-01A-01D-1373-10	10185936	57100524	77905992	39	9230											
GRIK4	2900	hgsc.bcm.edu;ucsc.edu	37	11	120833224	120833224	+	Silent	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:120833224C>T	ENST00000527524.2	+	18	2387	c.2100C>T	c.(2098-2100)agC>agT	p.S700S	GRIK4_ENST00000438375.2_Silent_p.S700S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	700					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		AGCAGCCCAGCGTGTTCGTGA	0.502																																																0													75	67	69					11																	120833224		2203	4299	6502	SO:0001819	synonymous_variant	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2100C>T	11.37:g.120833224C>T			A8K9L1	Silent	SNP	ENST00000527524.2	37	CCDS8433.1																																																																																				0.502	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		T	120833224	C	T	120833224	2	4	157	1	0	0	0	0	0	0	0	1	6778	767	27	1		1	GRIK4	11	120833224	Silent	SNP	C	TCGA-B0-4839-01A-01D-1373-10	63732700	120833224	14173292	40	9231											
HYLS1	219844	hgsc.bcm.edu;ucsc.edu	37	11	125769715	125769715	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:125769715C>T	ENST00000425380.2	+	3	1233	c.452C>T	c.(451-453)tCa>tTa	p.S151L	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.S151L|HYLS1_ENST00000356438.3_Missense_Mutation_p.S151L	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	151						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		TTTGATGTTTCACAAAAATTT	0.393																																					Esophageal Squamous(172;2590 2636 8884 10471)											0													101	100	101					11																	125769715		2201	4299	6500	SO:0001583	missense	219844			AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.452C>T	11.37:g.125769715C>T	ENSP00000414884:p.Ser151Leu		B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	C	9.637	1.138035	0.21123	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.67698	-0.28;-0.28;-0.28	5.49	5.49	0.81192	.	0.708561	0.12543	N	0.459696	T	0.58481	0.2125	L	0.44542	1.39	0.34592	D	0.715647	B	0.19073	0.033	B	0.17979	0.02	T	0.58561	-0.7615	10	0.27082	T	0.32	.	11.3553	0.49613	0.0:0.9116:0.0:0.0884	.	151	Q96M11	HYLS1_HUMAN	L	151	ENSP00000348815:S151L;ENSP00000414884:S151L;ENSP00000436833:S151L	ENSP00000348815:S151L	S	+	2	0	HYLS1	125274925	0.623000	0.27094	0.731000	0.30826	0.239000	0.25481	2.289000	0.43523	2.865000	0.98341	0.655000	0.94253	TCA		0.393	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		T	125769715	C	T	125769715	3	4	157	1	0	0	0	0	1	0	0	0	7471	838	29	2	454	2	HYLS1	11	125769715	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10	4936491	125769715	9236801	41	9232											
KRT2	3849	hgsc.bcm.edu	37	12	53039079	53039079	+	Silent	SNP	G	G	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr12:53039079G>T	ENST00000309680.3	-	9	1665	c.1644C>A	c.(1642-1644)tcC>tcA	p.S548S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	548	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TACCGCCTCTGGAGCCAGACT	0.582																																																0													114	121	118					12																	53039079		2203	4300	6503	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1644C>A	12.37:g.53039079G>T			Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																				0.582	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		T	53039079	G	T	53039079	2	4	157	1	0	0	0	0	0	0	0	1	8459	1335	47	4		4	KRT2	12	53039079	Silent	SNP	G	TCGA-B0-4839-01A-01D-1373-10		53039079	80812816	42	9233											
ISCU	23479	hgsc.bcm.edu	37	12	108959179	108959179	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr12:108959179T>C	ENST00000311893.9	+	3	333	c.311T>C	c.(310-312)tTa>tCa	p.L104S	ISCU_ENST00000539593.1_Missense_Mutation_p.L104S|ISCU_ENST00000338291.4_Missense_Mutation_p.L79S|ISCU_ENST00000535729.1_Missense_Mutation_p.L104S|ISCU_ENST00000392807.4_Missense_Mutation_p.L79S|ISCU_ENST00000547005.1_Missense_Mutation_p.L104S|ISCU_ENST00000431221.2_Missense_Mutation_p.L104S	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	104					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TCCAGCTCATTAGCCACTGAA	0.383																																																0													104	105	105					12																	108959179		2203	4300	6503	SO:0001583	missense	23479			U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"NifU-like N-terminal domain containing", "IscU iron-sulfur cluster scaffold homolog (E. coli)", "iron-sulfur cluster scaffold homolog (E. coli)"	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.311T>C	12.37:g.108959179T>C	ENSP00000310623:p.Leu104Ser		Q6P713|Q99617|Q9H1K2	Missense_Mutation	SNP	ENST00000311893.9	37	CCDS44966.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183481	0.78677	.	.	ENSG00000136003	ENST00000535729;ENST00000431221;ENST00000547005;ENST00000311893;ENST00000392807;ENST00000338291;ENST00000539593	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.53	5.53	0.82687	NIF system FeS cluster assembly, NifU, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91304	0.7258	H	0.95645	3.7	0.37447	D	0.914668	D;D;D;D;D;D	0.71674	0.988;0.997;0.995;0.996;0.969;0.998	D;D;D;D;D;D	0.78314	0.935;0.991;0.974;0.978;0.919;0.989	D	0.95107	0.8235	10	0.87932	D	0	.	14.6302	0.68650	0.0:0.0:0.0:1.0	.	104;104;104;104;79;79	B3KQ30;Q9H1K1;B4DNC9;F5H5N2;B1P7G3;Q9H1K1-2	.;ISCU_HUMAN;.;.;.;.	S	104;104;104;104;79;79;104	ENSP00000445598:L104S;ENSP00000411108:L104S;ENSP00000446606:L104S;ENSP00000310623:L104S;ENSP00000376554:L79S;ENSP00000344584:L79S;ENSP00000443272:L104S	ENSP00000310623:L104S	L	+	2	0	ISCU	107483308	0.992000	0.36948	0.086000	0.20670	0.995000	0.86356	7.334000	0.79224	2.103000	0.63969	0.533000	0.62120	TTA		0.383	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399693.1	NM_014301		C	108959179	T	C	108959179	3	2	157	1	0	0	0	0	1	0	0	0	7854	1764	61	3	246	3	ISCU	12	108959179	Missense_Mutation	SNP	T	TCGA-B0-4839-01A-01D-1373-10	55920100	108959179	24892716	43	9234											
PABPC3	5042	hgsc.bcm.edu	37	13	25671755	25671755	+	Silent	SNP	G	G	A	rs116223079	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr13:25671755G>A	ENST00000281589.3	+	1	1456	c.1419G>A	c.(1417-1419)acG>acA	p.T473T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	473					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCATGTCAACGCAGCGTGTTG	0.537																																																0													96	87	90					13																	25671755		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1419G>A	13.37:g.25671755G>A			Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																				0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671755	G	A	25671755	2	1	157	1	0	0	0	0	0	0	0	1	11367	1074	38	1		1	PABPC3	13	25671755	Silent	SNP	G	TCGA-B0-4839-01A-01D-1373-10		25671755	89498123	44	9235	75	2									
PABPC3	5042	hgsc.bcm.edu	37	13	25671759	25671759	+	Missense_Mutation	SNP	C	C	T	rs115121649	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr13:25671759C>T	ENST00000281589.3	+	1	1460	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	475					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTCAACGCAGCGTGTTGCTAA	0.532																																																0													93	84	87					13																	25671759		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1423C>T	13.37:g.25671759C>T	ENSP00000281589:p.Arg475Cys		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	7.042	0.562727	0.13498	.	.	ENSG00000151846	ENST00000281589	T	0.29142	1.58	0.875	-1.75	0.08031	.	0.000000	0.48767	U	0.000176	T	0.32346	0.0826	M	0.86740	2.835	0.52501	D	0.999952	B	0.11235	0.004	B	0.06405	0.002	T	0.03750	-1.1007	10	0.48119	T	0.1	.	6.6426	0.22917	0.0:0.732:0.0:0.268	.	475	Q9H361	PABP3_HUMAN	C	475	ENSP00000281589:R475C	ENSP00000281589:R475C	R	+	1	0	PABPC3	24569759	1.000000	0.71417	0.869000	0.34112	0.045000	0.14185	1.663000	0.37429	-0.898000	0.03906	-1.305000	0.01319	CGT		0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671759	C	T	25671759	3	4	157	1	0	0	0	0	1	0	0	0	11367	768	27	1	1425	1	PABPC3	13	25671759	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10	4	25671759	89498119	45	9236	75	2									
CDK8	1024	hgsc.bcm.edu;ucsc.edu	37	13	26911753	26911753	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr13:26911753T>C	ENST00000381527.3	+	2	681	c.178T>C	c.(178-180)Tct>Cct	p.S60P	CDK8_ENST00000536792.1_Missense_Mutation_p.S60P	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AACTGGGATCTCTATGTCGGC	0.299																																																0													97	110	105					13																	26911753		2203	4292	6495	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.178T>C	13.37:g.26911753T>C	ENSP00000370938:p.Ser60Pro		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.942252	0.73672	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.66995	-0.24;-0.24	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	N	0.04820	-0.15	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.972;0.984	T	0.63198	-0.6691	10	0.15952	T	0.53	-12.7518	15.5157	0.75822	0.0:0.0:0.0:1.0	.	60;60	P49336-2;P49336	.;CDK8_HUMAN	P	60	ENSP00000370938:S60P;ENSP00000437696:S60P	ENSP00000370938:S60P	S	+	1	0	CDK8	25809753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.224000	0.78042	2.144000	0.66660	0.460000	0.39030	TCT		0.299	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			C	26911753	T	C	26911753	3	2	157	1	0	0	0	0	1	0	0	0	3152	1551	54	3	184	3	CDK8	13	26911753	Missense_Mutation	SNP	T	TCGA-B0-4839-01A-01D-1373-10	1239994	26911753	88258125	46	9237											
COMMD6	170622	hgsc.bcm.edu	37	13	76101979	76101979	+	Intron	SNP	G	G	A	rs77512031	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr13:76101979G>A	ENST00000377615.3	-	5	372				COMMD6_ENST00000460675.1_Intron|COMMD6_ENST00000355801.4_Silent_p.L72L|COMMD6_ENST00000377619.5_Intron|COMMD6_ENST00000406936.3_Intron			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6						negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		aggttgccaggagctgaggct	0.408													G|||	97	0.019369	0.003	0.0331	5008	,	,		16772	0.0		0.0626	False		,,,				2504	0.0072															0								G	,	58,4348	55.5+/-91.7	0,58,2145	81	82	82		,216	-0.8	0	13	dbSNP_132	82	527,8073	146.2+/-201.8	15,497,3788	no	intron,coding-synonymous	COMMD6	NM_203495.2,NM_203497.2	,	15,555,5933	AA,AG,GG		6.1279,1.3164,4.4979	,	,72/99	76101979	585,12421	2203	4300	6503	SO:0001627	intron_variant	170622			AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.208-1204C>T	13.37:g.76101979G>A			A6NF28|B7ZLN0|Q5TBK4	Silent	SNP	ENST00000377615.3	37	CCDS9451.1																																																																																				0.408	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	XM_085023		A	76101979	G	A	76101979	1	1	157	0	1	0	0	0	0	0	0	0	3722	1161	41	2		2	COMMD6	13	76101979	Intron	SNP	G	TCGA-B0-4839-01A-01D-1373-10	49190226	76101979	39067899	47	9238											
NFATC4	4776	hgsc.bcm.edu	37	14	24842419	24842419	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr14:24842419A>G	ENST00000250373.4	+	4	1543	c.1402A>G	c.(1402-1404)Atc>Gtc	p.I468V	NFATC4_ENST00000556759.1_Missense_Mutation_p.I3V|NFATC4_ENST00000555453.1_Missense_Mutation_p.I456V|NFATC4_ENST00000422617.3_Missense_Mutation_p.I456V|NFATC4_ENST00000555167.1_Missense_Mutation_p.I3V|NFATC4_ENST00000424781.2_Missense_Mutation_p.I481V|NFATC4_ENST00000556279.1_Missense_Mutation_p.I500V|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000553879.1_Missense_Mutation_p.I398V|NFATC4_ENST00000555590.1_Missense_Mutation_p.I481V|NFATC4_ENST00000413692.2_Missense_Mutation_p.I531V|NFATC4_ENST00000554050.1_Missense_Mutation_p.I468V|NFATC4_ENST00000539237.2_Missense_Mutation_p.I500V|NFATC4_ENST00000554661.1_Missense_Mutation_p.I398V|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000554473.1_Missense_Mutation_p.I3V|NFATC4_ENST00000557451.1_Missense_Mutation_p.I398V|NFATC4_ENST00000553469.1_Missense_Mutation_p.I500V|NFATC4_ENST00000553708.1_Missense_Mutation_p.I468V|NFATC4_ENST00000554344.1_Missense_Mutation_p.I398V|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000556169.1_Missense_Mutation_p.I456V|NFATC4_ENST00000554591.1_Missense_Mutation_p.I531V|NFATC4_ENST00000554966.1_Missense_Mutation_p.I481V	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	468	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ACAGATGTTCATCGGCACTGC	0.552																																																0													68	61	64					14																	24842419		2203	4300	6503	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1402A>G	14.37:g.24842419A>G	ENSP00000250373:p.Ile468Val		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175687	0.38413	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.96	4.96	0.65561	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.251891	0.39407	N	0.001379	T	0.49321	0.1550	L	0.48362	1.52	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;P;B;B	0.44478	0.194;0.383;0.017;0.383;0.017;0.346;0.383;0.383;0.383;0.383;0.346;0.346;0.836;0.03;0.398	B;B;B;B;B;P;B;B;B;B;P;P;B;B;P	0.52481	0.113;0.159;0.068;0.159;0.042;0.575;0.159;0.159;0.159;0.159;0.575;0.575;0.345;0.068;0.7	T	0.52193	-0.8608	10	0.87932	D	0	0.167	12.6838	0.56936	1.0:0.0:0.0:0.0	.	456;456;500;500;481;481;481;531;531;456;398;500;445;531;468	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	V	531;531;481;481;481;500;500;500;468;468;468;398;398;398;456;398;456;456;3;3;3	ENSP00000388910:I531V;ENSP00000452039:I531V;ENSP00000451224:I481V;ENSP00000450644:I481V;ENSP00000388668:I481V;ENSP00000439350:I500V;ENSP00000452270:I500V;ENSP00000451502:I500V;ENSP00000451151:I468V;ENSP00000250373:I468V;ENSP00000450590:I468V;ENSP00000452349:I398V;ENSP00000450469:I398V;ENSP00000450733:I398V;ENSP00000451454:I456V;ENSP00000451284:I398V;ENSP00000396788:I456V;ENSP00000450686:I456V;ENSP00000450810:I3V;ENSP00000451183:I3V;ENSP00000451395:I3V	ENSP00000250373:I468V	I	+	1	0	NFATC4	23912259	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.310000	0.78947	2.088000	0.63022	0.529000	0.55759	ATC		0.552	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		G	24842419	A	G	24842419	3	3	157	1	0	0	0	0	1	0	0	0	10367	217	8	3	1609	3	NFATC4	14	24842419	Missense_Mutation	SNP	A	TCGA-B0-4839-01A-01D-1373-10		24842419	82507121	48	9239											
SNAP23	8773	hgsc.bcm.edu;ucsc.edu	37	15	42822003	42822003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr15:42822003C>T	ENST00000249647.3	+	7	1024	c.556C>T	c.(556-558)Cga>Tga	p.R186*	SNAP23_ENST00000349777.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000564153.1_Intron|RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000397138.1_Nonsense_Mutation_p.R133*	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	186	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		ACAAATAAAACGAATCACAGA	0.418																																																0													102	96	98					15																	42822003		2203	4299	6502	SO:0001587	stop_gained	8773			Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"synaptosomal-associated protein, 23kD"			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.556C>T	15.37:g.42822003C>T	ENSP00000249647:p.Arg186*		O00162|Q13602|Q6IAE3	Nonsense_Mutation	SNP	ENST00000249647.3	37	CCDS10087.1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299903	0.05532	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	1.16	0.20824	.	0.507597	0.22362	N	0.061079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4173	9.2908	0.37786	0.3635:0.5694:0.0:0.0672	.	.	.	.	X	186;133;133	.	ENSP00000249647:R186X	R	+	1	2	SNAP23	40609295	0.594000	0.26849	0.002000	0.10522	0.213000	0.24496	1.417000	0.34770	0.334000	0.23590	0.655000	0.94253	CGA		0.418	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	NM_003825		T	42822003	C	T	42822003	4	4	157	1	0	0	0	0	0	1	0	0	14835	528	19	1	578	1	SNAP23	15	42822003	Nonsense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10		42822003	59709389	49	9240											
BCL2L10	10017	hgsc.bcm.edu;ucsc.edu	37	15	52402092	52402092	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr15:52402092A>G	ENST00000561198.1	-	2	679	c.638T>C	c.(637-639)aTg>aCg	p.M213T	BCL2L10_ENST00000260442.3_Missense_Mutation_p.C190R			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		GTTAACAAGCATGACAGAAAA	0.438																																																0													133	148	143					15																	52402092		2195	4293	6488	SO:0001583	missense	10017			AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000561198.1:c.638T>C	15.37:g.52402092A>G	ENSP00000453562:p.Met213Thr		Q3SX80|Q52LQ9|Q8TCS9	Missense_Mutation	SNP	ENST00000561198.1	37		.	.	.	.	.	.	.	.	.	.	A	3.101	-0.184677	0.06340	.	.	ENSG00000137875	ENST00000260442	T	0.29142	1.58	3.94	1.47	0.22746	.	2.695610	0.01024	N	0.004025	T	0.25121	0.0610	N	0.19112	0.55	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.24584	-1.0156	10	0.25106	T	0.35	-15.0333	8.1833	0.31324	0.5985:0.4015:0.0:0.0	.	180	Q9HD36	B2L10_HUMAN	R	190	ENSP00000260442:C190R	ENSP00000260442:C190R	C	-	1	0	BCL2L10	50189384	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	1.746000	0.38288	0.289000	0.22422	0.533000	0.62120	TGC		0.438	BCL2L10-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419386.1			G	52402092	A	G	52402092	3	3	157	1	0	0	0	0	1	0	0	0	1368	217	8	3	50	3	BCL2L10	15	52402092	Missense_Mutation	SNP	A	TCGA-B0-4839-01A-01D-1373-10	9580089	52402092	50129300	50	9241											
VPS13C	54832	hgsc.bcm.edu	37	15	62243164	62243164	+	Silent	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr15:62243164G>A	ENST00000261517.5	-	40	4589	c.4516C>T	c.(4516-4518)Ctg>Ttg	p.L1506L	VPS13C_ENST00000395898.3_Silent_p.L1463L|VPS13C_ENST00000249837.3_Silent_p.L1463L|VPS13C_ENST00000395896.4_Silent_p.L1506L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACATTTTCAGAAGGGGTTCG	0.289																																																0													45	45	45					15																	62243164		2202	4294	6496	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4516C>T	15.37:g.62243164G>A				Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																				0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		A	62243164	G	A	62243164	2	1	157	1	0	0	0	0	0	0	0	1	17196	933	33	2		2	VPS13C	15	62243164	Silent	SNP	G	TCGA-B0-4839-01A-01D-1373-10	9841072	62243164	40288228	51	9242											
BBS2	583	hgsc.bcm.edu;ucsc.edu	37	16	56535332	56535332	+	Silent	SNP	C	C	T	rs199944942		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr16:56535332C>T	ENST00000245157.5	-	10	1578	c.1158G>A	c.(1156-1158)acG>acA	p.T386T	BBS2_ENST00000568104.1_Silent_p.T386T|BBS2_ENST00000561951.1_5'Flank	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	386					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGACTGAGAGCGTGGTGTGGA	0.517									Bardet-Biedl syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		16563	0.001		0.0	False		,,,				2504	0.0															0													223	198	207					16																	56535332		2198	4300	6498	SO:0001819	synonymous_variant	583	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1158G>A	16.37:g.56535332C>T			Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	CCDS32451.1																																																																																				0.517	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		T	56535332	C	T	56535332	2	4	157	1	0	0	0	0	0	0	0	1	1338	755	27	1		1	BBS2	16	56535332	Silent	SNP	C	TCGA-B0-4839-01A-01D-1373-10		56535332	33819421	52	9243											
TPPP3	51673	hgsc.bcm.edu;ucsc.edu	37	16	67424948	67424948	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr16:67424948G>A	ENST00000564104.1	-	1	908	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	TPPP3_ENST00000290942.5_Missense_Mutation_p.P23S|TPPP3_ENST00000393957.2_Missense_Mutation_p.P23S|TPPP3_ENST00000562206.1_Missense_Mutation_p.P23S|RNU1-123P_ENST00000458950.1_RNA			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	23					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CTGGCCTTGGGGTCACCATGG	0.592																																																0													142	113	123					16																	67424948		2198	4300	6498	SO:0001583	missense	51673			BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.67C>T	16.37:g.67424948G>A	ENSP00000462435:p.Pro23Ser		Q49AH9|Q9Y326|Q9Y6H0	Missense_Mutation	SNP	ENST00000564104.1	37	CCDS10835.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360905	0.24684	.	.	ENSG00000159713	ENST00000393957;ENST00000290942	T;T	0.42513	0.97;0.97	5.03	4.02	0.46733	EF-hand-like domain (1);	0.056739	0.64402	D	0.000002	T	0.14098	0.0341	N	0.00926	-1.1	0.44890	D	0.9979	B	0.02656	0.0	B	0.06405	0.002	T	0.15492	-1.0435	10	0.15499	T	0.54	-25.6026	10.4793	0.44684	0.0:0.0:0.6645:0.3354	.	23	Q9BW30	TPPP3_HUMAN	S	23	ENSP00000377529:P23S;ENSP00000290942:P23S	ENSP00000290942:P23S	P	-	1	0	TPPP3	65982449	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.172000	0.50832	2.619000	0.88677	0.491000	0.48974	CCC		0.592	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		A	67424948	G	A	67424948	3	1	157	1	0	0	0	0	1	0	0	0	16420	1232	43	2	475	2	TPPP3	16	67424948	Missense_Mutation	SNP	G	TCGA-B0-4839-01A-01D-1373-10	10889616	67424948	22929805	53	9244											
ZNF778	197320	hgsc.bcm.edu	37	16	89294595	89294595	+	Silent	SNP	C	C	T	rs74466939	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr16:89294595C>T	ENST00000433976.2	+	6	2147	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	ZNF778_ENST00000306502.6_Silent_p.I563I|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CACACCTTATCGTGCACATAA	0.473													C|||	813	0.16234	0.1248	0.2651	5008	,	,		22985	0.1746		0.0815	False		,,,				2504	0.2106															0								C	,	557,3831	227.8+/-242.9	39,479,1676	92	96	95		1899,1815	-1.7	0	16	dbSNP_131	95	860,7738	190.1+/-236.7	45,770,3484	no	coding-synonymous,coding-synonymous	ZNF778	NM_001201407.1,NM_182531.3	,	84,1249,5160	TT,TC,CC		10.0023,12.6937,10.9118	,	633/758,605/730	89294595	1417,11569	2194	4299	6493	SO:0001819	synonymous_variant	197320			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1815C>T	16.37:g.89294595C>T			Q08AG0	Silent	SNP	ENST00000433976.2	37	CCDS45550.1																																																																																				0.473	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		T	89294595	C	T	89294595	2	4	157	1	0	0	0	0	0	0	0	1	18156	874	31	1		1	ZNF778	16	89294595	Silent	SNP	C	TCGA-B0-4839-01A-01D-1373-10	21869647	89294595	1060158	54	9245											
FTSJ3	5705	hgsc.bcm.edu;ucsc.edu	37	17	61903958	61903958	+	5'Flank	SNP	A	A	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr17:61903958A>C	ENST00000310144.6	+	0	0				PSMC5_ENST00000375812.4_5'Flank|FTSJ3_ENST00000427159.2_Missense_Mutation_p.L48V|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein 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)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AGGTCCAGCAAGGCTCGGGCT	0.572																																																0													53	52	52					17																	61903958		2203	4300	6503	SO:0001631	upstream_gene_variant	117246			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61903958A>C	Exception_encountered		A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.512068	0.44660	.	.	ENSG00000108592	ENST00000427159	T	0.26223	1.75	5.51	2.02	0.26589	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.64402	D	0.000001	T	0.12732	0.0309	N	0.01405	-0.89	0.36943	D	0.892463	P	0.46064	0.872	P	0.56563	0.801	T	0.18777	-1.0326	10	0.07325	T	0.83	-9.1839	7.7128	0.28688	0.6717:0.0:0.3283:0.0	.	48	Q8IY81	RRMJ3_HUMAN	V	48	ENSP00000396673:L48V	ENSP00000396673:L48V	L	-	1	2	FTSJ3	59257690	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.871000	0.28023	0.518000	0.28383	0.459000	0.35465	TTG		0.572	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		C	61903958	A	C	61903958	1	2	157	0	1	0	0	0	0	0	0	0	6091	69	3	5		5	FTSJ3	17	61903958	5'Flank	SNP	A	TCGA-B0-4839-01A-01D-1373-10		61903958	19291252	55	9246											
TXNL1	9352	hgsc.bcm.edu	37	18	54281810	54281810	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr18:54281810C>A	ENST00000217515.6	-	6	784	c.580G>T	c.(580-582)Gta>Tta	p.V194L	TXNL1_ENST00000540155.1_Missense_Mutation_p.V71L|TXNL1_ENST00000590954.1_Missense_Mutation_p.V194L	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	194	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		AAAATTTTTACATATTTAGGG	0.348																																																0													74	71	72					18																	54281810		2203	4300	6503	SO:0001583	missense	9352			AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"thioredoxin-like, 32kD"	603049	"thioredoxin-like, 32kDa"	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.580G>T	18.37:g.54281810C>A	ENSP00000217515:p.Val194Leu			Missense_Mutation	SNP	ENST00000217515.6	37	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714875	0.48622	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.19394	2.15	5.51	4.45	0.53987	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.112810	0.64402	D	0.000017	T	0.17238	0.0414	L	0.33753	1.03	0.54753	D	0.99998	B;B	0.06786	0.001;0.0	B;B	0.20577	0.03;0.008	T	0.03597	-1.1021	10	0.31617	T	0.26	.	13.2017	0.59772	0.0:0.8749:0.0:0.1251	.	194;194	B2R960;O43396	.;TXNL1_HUMAN	L	194;71	ENSP00000217515:V194L	ENSP00000217515:V194L	V	-	1	0	TXNL1	52432808	0.934000	0.31675	1.000000	0.80357	0.998000	0.95712	1.792000	0.38754	2.574000	0.86865	0.650000	0.86243	GTA		0.348	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			A	54281810	C	A	54281810	3	1	157	1	0	0	0	0	1	0	0	0	16809	478	17	4	301	4	TXNL1	18	54281810	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10		54281810	23795438	56	9247											
ZNF532	55205	hgsc.bcm.edu;ucsc.edu	37	18	56585627	56585627	+	Silent	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr18:56585627C>T	ENST00000336078.4	+	4	884	c.108C>T	c.(106-108)gaC>gaT	p.D36D	ZNF532_ENST00000591230.1_Silent_p.D36D|ZNF532_ENST00000589288.1_Silent_p.D36D|ZNF532_ENST00000591083.1_Silent_p.D36D|ZNF532_ENST00000591808.1_Silent_p.D36D	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GACACGATGACCATGAAAGCC	0.498																																																0													101	82	88					18																	56585627		2203	4300	6503	SO:0001819	synonymous_variant	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.108C>T	18.37:g.56585627C>T			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	CCDS11969.1																																																																																				0.498	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		T	56585627	C	T	56585627	2	4	157	1	0	0	0	0	0	0	0	1	17977	506	18	2		2	ZNF532	18	56585627	Silent	SNP	C	TCGA-B0-4839-01A-01D-1373-10	2303817	56585627	21491621	57	9248											
PPAP2C	8612	hgsc.bcm.edu	37	19	287592	287592	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr19:287592G>A	ENST00000269812.3	-	3	413	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	PPAP2C_ENST00000327790.3_Missense_Mutation_p.R143C|PPAP2C_ENST00000434325.2_Missense_Mutation_p.R66C	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	122					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTCAGACGCCCAATCATG	0.597																																																0													108	111	110					19																	287592		2203	4300	6503	SO:0001583	missense	8612			AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.364C>T	19.37:g.287592G>A	ENSP00000269812:p.Arg122Cys		A6NLV0|E9PAY8	Missense_Mutation	SNP	ENST00000269812.3	37	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419645	0.62622	.	.	ENSG00000141934	ENST00000269812;ENST00000327790;ENST00000434325	D;D;D	0.82711	-1.64;-1.64;-1.64	4.93	4.93	0.64822	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.058944	0.64402	D	0.000001	D	0.95538	0.8550	H	0.99619	4.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97967	1.0341	10	0.87932	D	0	-12.3435	16.7212	0.85410	0.0:0.0:1.0:0.0	.	122;143	O43688;O43688-2	LPP2_HUMAN;.	C	122;143;66	ENSP00000269812:R122C;ENSP00000329697:R143C;ENSP00000388565:R66C	ENSP00000269812:R122C	R	-	1	0	PPAP2C	238592	1.000000	0.71417	0.972000	0.41901	0.009000	0.06853	7.466000	0.80914	2.281000	0.76405	0.655000	0.94253	CGT		0.597	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			A	287592	G	A	287592	3	1	157	1	0	0	0	0	1	0	0	0	12294	1087	38	1	518	1	PPAP2C	19	287592	Missense_Mutation	SNP	G	TCGA-B0-4839-01A-01D-1373-10		287592	58841391	58	9249											
MUC16	94025	hgsc.bcm.edu	37	19	8996451	8996451	+	Silent	SNP	G	G	A	rs77062145		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr19:8996451G>A	ENST00000397910.4	-	61	41324	c.41121C>T	c.(41119-41121)tgC>tgT	p.C13707C	MUC16_ENST00000380951.5_Silent_p.C348C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13709	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGTGGGTGCAGATGGCAT	0.557																																																0													72	68	69					19																	8996451		1939	4142	6081	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41121C>T	19.37:g.8996451G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	4.284	0.051851	0.08291	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.36	-0.114	0.13564	.	.	.	.	.	T	0.31827	0.0809	.	.	.	.	.	.	.	.	.	.	.	.	T	0.39121	-0.9629	3	.	.	.	-20.7794	5.501	0.16829	0.3931:0.0:0.6069:0.0	.	.	.	.	V	547	.	.	A	-	2	0	MUC16	8857451	0.956000	0.32656	0.651000	0.29564	0.022000	0.10575	0.523000	0.22925	0.247000	0.21414	-0.403000	0.06358	GCA		0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	8996451	G	A	8996451	2	1	157	1	0	0	0	0	0	0	0	1	9975	1311	46	2		2	MUC16	19	8996451	Silent	SNP	G	TCGA-B0-4839-01A-01D-1373-10	8708859	8996451	50132532	59	9250											
BRD4	23476	hgsc.bcm.edu	37	19	15364972	15364972	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr19:15364972A>G	ENST00000263377.2	-	11	2370	c.2149T>C	c.(2149-2151)Tcc>Ccc	p.S717P	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.S717P|BRD4_ENST00000371835.4_Missense_Mutation_p.S717P	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	717	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCTGTTTCGGAGTCTTCGCTG	0.542			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													77	67	70					19																	15364972		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2149T>C	19.37:g.15364972A>G	ENSP00000263377:p.Ser717Pro		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.834934	0.71373	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.47177	0.85;0.85;0.85	5.05	5.05	0.67936	.	0.237227	0.30177	N	0.010233	T	0.61937	0.2387	L	0.54323	1.7	0.50171	D	0.999859	D;D;D	0.76494	0.999;0.994;0.997	D;P;D	0.66196	0.942;0.76;0.916	T	0.64313	-0.6437	10	0.59425	D	0.04	-22.4212	14.0967	0.65027	1.0:0.0:0.0:0.0	.	717;717;717	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	P	717	ENSP00000263377:S717P;ENSP00000360901:S717P;ENSP00000353112:S717P	ENSP00000263377:S717P	S	-	1	0	BRD4	15225972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.861000	0.92277	2.043000	0.60533	0.379000	0.24179	TCC		0.542	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		G	15364972	A	G	15364972	3	3	157	1	0	0	0	0	1	0	0	0	1506	304	11	3	1994	3	BRD4	19	15364972	Missense_Mutation	SNP	A	TCGA-B0-4839-01A-01D-1373-10	6368521	15364972	43764011	60	9251											
PAF1	55095	hgsc.bcm.edu;ucsc.edu	37	19	39876968	39876968	+	IGR	SNP	C	C	T	rs145620122		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr19:39876968C>T	ENST00000314471.6	+	0	4519				PAF1_ENST00000221265.3_Missense_Mutation_p.R420Q|PAF1_ENST00000595564.1_Intron|PAF1_ENST00000221266.7_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACCTTCCTCCCGTTCACTCTC	0.602																																																0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	207	178	188		1259	3.2	0.6	19	dbSNP_134	188	0,8600		0,0,4300	no	missense	PAF1	NM_019088.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	420/532	39876968	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	54623				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39876968C>T			A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	c	8.695	0.908265	0.17833	2.27E-4	0.0	ENSG00000006712	ENST00000221265	.	.	.	5.36	3.23	0.37069	.	0.738722	0.13009	N	0.420997	T	0.41190	0.1148	N	0.22421	0.69	0.80722	D	1	B	0.20671	0.047	B	0.11329	0.006	T	0.11446	-1.0587	9	0.29301	T	0.29	-6.5496	9.6306	0.39776	0.0:0.8287:0.0:0.1713	.	420	Q8N7H5	PAF1_HUMAN	Q	420	.	ENSP00000221265:R420Q	R	-	2	0	PAF1	44568808	0.001000	0.12720	0.593000	0.28771	0.065000	0.16274	0.194000	0.17135	0.649000	0.30751	0.450000	0.29827	CGG		0.602	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		T	39876968	C	T	39876968	1	4	157	0	1	0	0	0	0	0	0	0	11385	652	23	1		1	PAF1	19	39876968	IGR	SNP	C	TCGA-B0-4839-01A-01D-1373-10	24511996	39876968	19252015	61	9252											
CDH4	1002	hgsc.bcm.edu	37	20	60348075	60348075	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr20:60348075A>C	ENST00000360469.5	+	4	501	c.413A>C	c.(412-414)aAg>aCg	p.K138T	CDH4_ENST00000543233.1_Missense_Mutation_p.K64T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	138					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AAAGGAAAGAAGGTCGTGGCT	0.577																																																0													41	41	41					20																	60348075		2203	4300	6503	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.413A>C	20.37:g.60348075A>C	ENSP00000353656:p.Lys138Thr		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	A	3.653	-0.071136	0.07228	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.56611	0.45;0.47	4.84	-0.373	0.12516	Cadherin-like (1);	0.870561	0.10045	N	0.722955	T	0.25158	0.0611	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16897	-1.0387	9	.	.	.	.	3.3606	0.07185	0.5309:0.2725:0.0726:0.124	.	138	P55283	CADH4_HUMAN	T	138;46;64	ENSP00000353656:K138T;ENSP00000443301:K64T	.	K	+	2	0	CDH4	59781470	0.993000	0.37304	0.007000	0.13788	0.015000	0.08874	2.607000	0.46300	-0.401000	0.07644	0.533000	0.62120	AAG		0.577	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		C	60348075	A	C	60348075	3	2	157	1	0	0	0	0	1	0	0	0	3114	72	3	5	427	5	CDH4	20	60348075	Missense_Mutation	SNP	A	TCGA-B0-4839-01A-01D-1373-10		60348075	2677445	62	9253											
DRP2	1821	hgsc.bcm.edu	37	X	100497381	100497381	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chrX:100497381T>A	ENST00000395209.3	+	8	1423	c.896T>A	c.(895-897)cTt>cAt	p.L299H	DRP2_ENST00000541709.1_Missense_Mutation_p.L221H|DRP2_ENST00000402866.1_Missense_Mutation_p.L299H|DRP2_ENST00000538510.1_Missense_Mutation_p.L299H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	299					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GCCCACCAACTTGCCATTTCT	0.498																																																0													179	165	169					X																	100497381		2203	4300	6503	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.896T>A	X.37:g.100497381T>A	ENSP00000378635:p.Leu299His		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035589	0.75617	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81484	-0.0912	10	0.87932	D	0	-8.831	14.2984	0.66329	0.0:0.0:0.0:1.0	.	299	Q13474	DRP2_HUMAN	H	299;299;221;299	ENSP00000385038:L299H;ENSP00000378635:L299H;ENSP00000444752:L221H;ENSP00000441051:L299H	ENSP00000362007:L299H	L	+	2	0	DRP2	100384037	1.000000	0.71417	0.967000	0.41034	0.856000	0.48823	7.698000	0.84413	1.754000	0.51921	0.481000	0.45027	CTT		0.498	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		A	100497381	T	A	100497381	3	1	157	1	0	0	0	0	1	0	0	0	4766	1609	56	5	918	5	DRP2	23	100497381	Missense_Mutation	SNP	T	TCGA-B0-4839-01A-01D-1373-10		100497381	54773179	63	9254											
GPRASP1	9737	hgsc.bcm.edu	37	X	101911560	101911560	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chrX:101911560T>G	ENST00000361600.5	+	5	3520	c.2719T>G	c.(2719-2721)Ttt>Gtt	p.F907V	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.F907V|GPRASP1_ENST00000537097.1_Missense_Mutation_p.F907V|GPRASP1_ENST00000415986.1_Missense_Mutation_p.F907V	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	907	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGAAACCATTTTTGGGTCCTG	0.488																																																0													90	92	91					X																	101911560		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2719T>G	X.37:g.101911560T>G	ENSP00000355146:p.Phe907Val		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	T	9.879	1.200989	0.22121	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	2.43	1.17	0.20885	.	.	.	.	.	T	0.07954	0.0199	L	0.54323	1.7	0.09310	N	1	P	0.39809	0.689	B	0.28553	0.091	T	0.29822	-0.9999	9	0.28530	T	0.3	-5.0532	6.288	0.21043	0.0:0.0:0.5295:0.4705	.	907	Q5JY77	GASP1_HUMAN	V	907	ENSP00000393691:F907V;ENSP00000409420:F907V;ENSP00000355146:F907V;ENSP00000445683:F907V	ENSP00000355146:F907V	F	+	1	0	GPRASP1	101798216	0.000000	0.05858	0.009000	0.14445	0.848000	0.48234	0.190000	0.17057	0.225000	0.20959	0.242000	0.17961	TTT		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		G	101911560	T	G	101911560	3	3	157	1	0	0	0	0	1	0	0	0	6724	1841	64	5	2721	5	GPRASP1	23	101911560	Missense_Mutation	SNP	T	TCGA-B0-4839-01A-01D-1373-10	1414179	101911560	53359000	64	9255											
NXF3	56000	hgsc.bcm.edu	37	X	102337711	102337711	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chrX:102337711C>T	ENST00000395065.3	-	8	858	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	NXF3_ENST00000425463.2_Missense_Mutation_p.V164I|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	253					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCTTCATGGACGTCCAGGGAG	0.478																																																0													174	145	154					X																	102337711		2203	4300	6503	SO:0001583	missense	56000			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.757G>A	X.37:g.102337711C>T	ENSP00000378504:p.Val253Ile		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.019|0.019	-1.461864|-1.461864	0.01062|0.01062	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000427570|ENST00000395065;ENST00000425463	.|T;T	.|0.33865	.|1.39;1.39	3.64|3.64	1.2|1.2	0.21068|0.21068	.|.	.|0.308479	.|0.33364	.|N	.|0.004994	T|T	0.07638|0.07638	0.0192|0.0192	N|N	0.00686|0.00686	-1.255|-1.255	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.17852	.|0.024;0.011;0.004	.|B;B;B	.|0.10450	.|0.005;0.003;0.001	T|T	0.37314|0.37314	-0.9711|-0.9711	5|10	.|0.02654	.|T	.|1	-12.7344|-12.7344	4.8575|4.8575	0.13566|0.13566	0.0:0.2749:0.0:0.7251|0.0:0.2749:0.0:0.7251	.|.	.|253;149;253	.|B4DYI1;E9PEY7;Q9H4D5	.|.;.;NXF3_HUMAN	H|I	129|253;164	.|ENSP00000378504:V253I;ENSP00000404347:V164I	.|ENSP00000378504:V253I	R|V	-|-	2|1	0|0	NXF3|NXF3	102224367|102224367	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.923000|0.923000	0.28757|0.28757	0.139000|0.139000	0.18822|0.18822	-0.881000|-0.881000	0.02953|0.02953	CGT|GTC		0.478	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		T	102337711	C	T	102337711	3	4	157	1	0	0	0	0	1	0	0	0	10787	536	19	1	886	1	NXF3	23	102337711	Missense_Mutation	SNP	C	TCGA-B0-4839-01A-01D-1373-10	426151	102337711	52932849	65	9256											
MASP2	10747	hgsc.bcm.edu;ucsc.edu	37	1	11087333	11087333	+	Missense_Mutation	SNP	T	T	A	rs373806675		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:11087333T>A	ENST00000400897.3	-	11	1685	c.1670A>T	c.(1669-1671)gAa>gTa	p.E557V	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	557	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGATTCAGCTTCTTTTCTTGG	0.383																																					GBM(35;611 746 20780 22741 36496)											0													145	144	144					1																	11087333		2203	4300	6503	SO:0001583	missense	10747			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1670A>T	1.37:g.11087333T>A	ENSP00000383690:p.Glu557Val		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	CCDS123.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576224	0.28092	.	.	ENSG00000009724	ENST00000400897	D	0.89270	-2.49	5.06	-5.46	0.02608	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.714038	0.13301	N	0.398225	D	0.82453	0.5040	L	0.41824	1.3	0.09310	N	1	B	0.24368	0.102	B	0.26310	0.068	T	0.66027	-0.6025	10	0.62326	D	0.03	.	13.6119	0.62083	0.0:0.066:0.6622:0.2717	.	557	O00187	MASP2_HUMAN	V	557	ENSP00000383690:E557V	ENSP00000383690:E557V	E	-	2	0	MASP2	11009920	0.012000	0.17670	0.000000	0.03702	0.734000	0.41952	0.152000	0.16302	-1.423000	0.02002	-0.460000	0.05396	GAA		0.383	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		A	11087333	T	A	11087333	3	1	158	1	0	0	0	0	1	0	0	0	9325	1783	62	5	394	5	MASP2	1	11087333	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10		11087333	238163288	1	9257											
VPS13D	55187	hgsc.bcm.edu;ucsc.edu	37	1	12401915	12401915	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:12401915T>G	ENST00000358136.3	+	41	8835	c.8705T>G	c.(8704-8706)tTt>tGt	p.F2902C	VPS13D_ENST00000356315.4_Missense_Mutation_p.F2877C	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACTTTGTGGTTTGCCACCCTG	0.547																																																0													93	92	92					1																	12401915		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8705T>G	1.37:g.12401915T>G	ENSP00000350854:p.Phe2902Cys			Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.688915|4.688915	0.88735|0.88735	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.49720|.	0.77;0.77|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74053|0.74053	0.3666|0.3666	M|M	0.69523|0.69523	2.12|2.12	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;P|.	0.68192|.	0.956;0.905|.	T|T	0.73814|0.73814	-0.3864|-0.3864	10|5	0.54805|.	T|.	0.06|.	.|.	16.0226|16.0226	0.80509|0.80509	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2877;2901|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	C|V	2877;2902|1724	ENSP00000348666:F2877C;ENSP00000350854:F2902C|.	ENSP00000348666:F2877C|.	F|L	+|+	2|1	0|2	VPS13D|VPS13D	12324502|12324502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.698000|7.698000	0.84413|0.84413	2.182000|2.182000	0.69389|0.69389	0.482000|0.482000	0.46254|0.46254	TTT|TTG		0.547	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		G	12401915	T	G	12401915	3	3	158	1	0	0	0	0	1	0	0	0	17197	1841	64	5	8863	5	VPS13D	1	12401915	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	1314582	12401915	236848706	2	9258											
TIE1	7075	hgsc.bcm.edu;ucsc.edu	37	1	43777725	43777725	+	Missense_Mutation	SNP	G	G	A	rs141628049		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:43777725G>A	ENST00000372476.3	+	11	1632	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H	TIE1_ENST00000433781.2_Missense_Mutation_p.R163H	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	518	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACAGTGTTCGTGTGCAGCTG	0.597																																																0								G	HIS/ARG	0,4406		0,0,2203	89	83	85		1553	2.3	0.9	1	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIE1	NM_005424.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	518/1139	43777725	1,13005	2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1553G>A	1.37:g.43777725G>A	ENSP00000361554:p.Arg518His		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236302	0.39498	0.0	1.16E-4	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.60920	0.15;0.15	5.67	2.33	0.28932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.419874	0.17569	N	0.169544	T	0.56470	0.1987	L	0.50333	1.59	0.09310	N	0.999999	B;B;D;B;B	0.58620	0.001;0.005;0.983;0.001;0.005	B;B;P;B;B	0.54210	0.002;0.007;0.745;0.003;0.007	T	0.44421	-0.9329	10	0.42905	T	0.14	.	4.5919	0.12312	0.0927:0.1213:0.511:0.275	.	163;473;518;163;518	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	H	518;163	ENSP00000361554:R518H;ENSP00000411728:R163H	ENSP00000361554:R518H	R	+	2	0	TIE1	43550312	0.272000	0.24172	0.874000	0.34290	0.978000	0.69477	1.861000	0.39438	0.709000	0.31976	0.563000	0.77884	CGT		0.597	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		A	43777725	G	A	43777725	3	1	158	1	0	0	0	0	1	0	0	0	15898	1145	40	1	1595	1	TIE1	1	43777725	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	31375810	43777725	205472896	3	9259											
C1orf52	148423	hgsc.bcm.edu;ucsc.edu	37	1	85718361	85718361	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:85718361G>T	ENST00000471115.1	-	3	508	c.500C>A	c.(499-501)tCt>tAt	p.S167Y	C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	167							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		GCGCTTTTTAGAAGTATGCTC	0.318																																																0													133	119	124					1																	85718361		2202	4297	6499	SO:0001583	missense	148423			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.500C>A	1.37:g.85718361G>T	ENSP00000419417:p.Ser167Tyr		B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP	ENST00000471115.1	37	CCDS703.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783138	0.70222	.	.	ENSG00000162642	ENST00000471115	.	.	.	5.82	5.82	0.92795	.	0.411817	0.26967	N	0.021592	T	0.53465	0.1798	L	0.36672	1.1	0.80722	D	1	P	0.49559	0.925	P	0.54100	0.742	T	0.58086	-0.7698	9	0.87932	D	0	-11.9558	15.5931	0.76554	0.0:0.0:1.0:0.0	.	167	Q8N6N3	CA052_HUMAN	Y	167	.	ENSP00000419417:S167Y	S	-	2	0	C1orf52	85490949	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.856000	0.55964	2.756000	0.94617	0.561000	0.74099	TCT		0.318	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077		T	85718361	G	T	85718361	3	4	158	1	0	0	0	0	1	0	0	0	2046	942	33	4	52	4	C1orf52	1	85718361	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	41940636	85718361	163532260	4	9260											
STXBP3	6814	hgsc.bcm.edu	37	1	109325070	109325070	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:109325070A>G	ENST00000370008.3	+	10	886	c.836A>G	c.(835-837)gAg>gGg	p.E279G		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	279					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AAAGAAAAGGAGGCCATCCTT	0.333																																																0													100	98	99					1																	109325070		2203	4300	6503	SO:0001583	missense	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.836A>G	1.37:g.109325070A>G	ENSP00000359025:p.Glu279Gly		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	CCDS790.1	.	.	.	.	.	.	.	.	.	.	A	31	5.091938	0.94149	.	.	ENSG00000116266	ENST00000370008	T	0.79141	-1.24	5.56	5.56	0.83823	.	0.103414	0.64402	N	0.000004	D	0.86016	0.5832	M	0.85373	2.75	0.80722	D	1	D	0.69078	0.997	D	0.63793	0.918	D	0.88776	0.3267	10	0.87932	D	0	-22.3667	15.3769	0.74615	1.0:0.0:0.0:0.0	.	279	O00186	STXB3_HUMAN	G	279	ENSP00000359025:E279G	ENSP00000359025:E279G	E	+	2	0	STXBP3	109126593	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.138000	0.77305	2.100000	0.63781	0.528000	0.53228	GAG		0.333	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		G	109325070	A	G	109325070	3	3	158	1	0	0	0	0	1	0	0	0	15359	304	11	3	874	3	STXBP3	1	109325070	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	23606709	109325070	139925551	5	9261											
KCNA10	3744	hgsc.bcm.edu;ucsc.edu	37	1	111060345	111060345	+	Silent	SNP	C	C	T	rs566195238	byFrequency	TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:111060345C>T	ENST00000369771.2	-	1	1452	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	355					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.S355S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TGGAGTGGCGCGAGAGCTTGA	0.572													C|||	4	0.000798722	0.003	0.0	5008	,	,		20447	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	endometrium(1)											114	110	111					1																	111060345		2203	4300	6503	SO:0001819	synonymous_variant	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1065G>A	1.37:g.111060345C>T				Silent	SNP	ENST00000369771.2	37	CCDS826.1																																																																																				0.572	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		T	111060345	C	T	111060345	2	4	158	1	0	0	0	0	0	0	0	1	8004	755	27	1		1	KCNA10	1	111060345	Silent	SNP	C	TCGA-B0-4841-01A-01D-1361-10	1735275	111060345	138190276	6	9262											
ADAMTSL4	54507	hgsc.bcm.edu;ucsc.edu	37	1	150531786	150531786	+	Silent	SNP	C	C	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:150531786C>A	ENST00000369038.2	+	15	2988	c.2787C>A	c.(2785-2787)ggC>ggA	p.G929G	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.G929G|ADAMTSL4_ENST00000369039.5_Silent_p.G952G			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	929	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTGGCTCTGGCACACAGCGTA	0.597											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													95	74	81					1																	150531786		2203	4300	6503	SO:0001819	synonymous_variant	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2787C>A	1.37:g.150531786C>A		1733	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	CCDS955.1																																																																																				0.597	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		A	150531786	C	A	150531786	2	1	158	1	0	0	0	0	0	0	0	1	277	697	25	4		4	ADAMTSL4	1	150531786	Silent	SNP	C	TCGA-B0-4841-01A-01D-1361-10	39471441	150531786	98718835	7	9263											
SETDB1	9869	hgsc.bcm.edu	37	1	150923098	150923098	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:150923098G>A	ENST00000271640.5	+	13	1935	c.1745G>A	c.(1744-1746)tGt>tAt	p.C582Y	SETDB1_ENST00000368969.4_Missense_Mutation_p.C582Y|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	582					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCTATACCTGTCTGTCTCGA	0.572																																																0													99	97	98					1																	150923098		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1745G>A	1.37:g.150923098G>A	ENSP00000271640:p.Cys582Tyr		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281188	0.80692	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.97811	-4.55;-0.8;-4.54;-0.97	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.997;0.995	D;D;D;D	0.85130	0.996;0.997;0.994;0.986	D	0.99509	1.0955	10	0.87932	D	0	.	17.7942	0.88565	0.0:0.0:1.0:0.0	.	582;583;582;582	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	Y	582;583;582;582	ENSP00000271640:C582Y;ENSP00000436148:C583Y;ENSP00000357965:C582Y;ENSP00000432348:C582Y	ENSP00000271640:C582Y	C	+	2	0	SETDB1	149189722	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.486000	0.97944	2.540000	0.85666	0.655000	0.94253	TGT		0.572	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			A	150923098	G	A	150923098	3	1	158	1	0	0	0	0	1	0	0	0	14144	1377	48	2	1791	2	SETDB1	1	150923098	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	391312	150923098	98327523	8	9264											
POGZ	23126	hgsc.bcm.edu	37	1	151377553	151377553	+	Missense_Mutation	SNP	G	G	T	rs527918314		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:151377553G>T	ENST00000271715.2	-	19	4272	c.3958C>A	c.(3958-3960)Cag>Aag	p.Q1320K	POGZ_ENST00000368863.2_Missense_Mutation_p.Q1225K|POGZ_ENST00000361398.3_Missense_Mutation_p.Q1267K|POGZ_ENST00000491586.1_Missense_Mutation_p.Q1276K|POGZ_ENST00000540984.1_Missense_Mutation_p.Q682K|POGZ_ENST00000531094.1_Missense_Mutation_p.Q1258K|POGZ_ENST00000392723.1_Missense_Mutation_p.Q1267K|POGZ_ENST00000409503.1_Missense_Mutation_p.Q1311K	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1320	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAGGAGCGCTGAACTAGCTCT	0.527											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													108	102	104					1																	151377553		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3958C>A	1.37:g.151377553G>T	ENSP00000271715:p.Gln1320Lys	1739	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588331	0.66105	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.22539	5.9;5.93;5.9;5.88;5.92;5.91;1.95;5.4	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000004	T	0.26702	0.0653	L	0.29908	0.895	0.44373	D	0.99727	P;P;P;P;P;P	0.48911	0.634;0.634;0.917;0.917;0.811;0.634	B;B;D;D;P;B	0.63488	0.168;0.231;0.915;0.915;0.879;0.298	T	0.00747	-1.1583	10	0.46703	T	0.11	-14.7913	19.0415	0.93002	0.0:0.0:1.0:0.0	.	1258;1311;1225;1276;1267;1320	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	K	1267;1320;1267;1225;1311;1258;682;1276	ENSP00000376484:Q1267K;ENSP00000271715:Q1320K;ENSP00000354467:Q1267K;ENSP00000357856:Q1225K;ENSP00000386836:Q1311K;ENSP00000431259:Q1258K;ENSP00000443547:Q682K;ENSP00000418408:Q1276K	ENSP00000271715:Q1320K	Q	-	1	0	POGZ	149644177	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.095000	0.71439	2.840000	0.97914	0.655000	0.94253	CAG		0.527	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		T	151377553	G	T	151377553	3	4	158	1	0	0	0	0	1	0	0	0	12188	1299	45	4	278	4	POGZ	1	151377553	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	454455	151377553	97873068	9	9265											
FLG	2312	hgsc.bcm.edu	37	1	152281097	152281097	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:152281097A>T	ENST00000368799.1	-	3	6300	c.6265T>A	c.(6265-6267)Tct>Act	p.S2089T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2089	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGGAAAGACCCTGAACGT	0.567									Ichthyosis																																							0													311	241	265					1																	152281097		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6265T>A	1.37:g.152281097A>T	ENSP00000357789:p.Ser2089Thr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	a	4.967	0.179580	0.09443	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	2.47	-4.95	0.03048	.	.	.	.	.	T	0.00552	0.0018	M	0.76574	2.34	0.09310	N	1	B	0.28350	0.208	B	0.19148	0.024	T	0.45659	-0.9246	9	0.12103	T	0.63	.	4.5984	0.12341	0.3137:0.3399:0.3464:0.0	.	2089	P20930	FILA_HUMAN	T	2089	ENSP00000357789:S2089T	ENSP00000357789:S2089T	S	-	1	0	FLG	150547721	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.318000	0.01121	-1.441000	0.01958	-0.611000	0.04053	TCT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152281097	A	T	152281097	3	4	158	1	0	0	0	0	1	0	0	0	5924	275	10	5	5924	5	FLG	1	152281097	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	903544	152281097	96969524	10	9266											
INTS3	65123	hgsc.bcm.edu	37	1	153701140	153701140	+	Silent	SNP	A	A	C	rs146230825		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:153701140A>C	ENST00000318967.2	+	1	598	c.30A>C	c.(28-30)gcA>gcC	p.A10A	INTS3_ENST00000435409.2_Silent_p.A10A|INTS3_ENST00000456435.1_5'UTR|Y_RNA_ENST00000362695.1_RNA	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	0	Ala/Gly-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGGGGCGGCAGCAGCAGCAG	0.622																																																0													30	40	37					1																	153701140		2183	4262	6445	SO:0001819	synonymous_variant	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.30A>C	1.37:g.153701140A>C			A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	CCDS1052.1																																																																																				0.622	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		C	153701140	A	C	153701140	2	2	158	1	0	0	0	0	0	0	0	1	7781	175	7	5		5	INTS3	1	153701140	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10	1420043	153701140	95549481	11	9267											
FCRL4	83417	hgsc.bcm.edu;ucsc.edu	37	1	157557715	157557715	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:157557715T>C	ENST00000271532.1	-	4	637	c.502A>G	c.(502-504)Att>Gtt	p.I168V	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	168	Ig-like C2-type 2.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCATATCCAATGCATCGATAA	0.303																																																0													57	55	56					1																	157557715		2203	4300	6503	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.502A>G	1.37:g.157557715T>C	ENSP00000271532:p.Ile168Val		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.621029	0.00820	.	.	ENSG00000163518	ENST00000271532	T	0.11604	2.76	3.97	-3.65	0.04502	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.606230	0.01788	N	0.032142	T	0.02929	0.0087	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.16722	0.016	T	0.40831	-0.9542	10	0.30078	T	0.28	.	4.7254	0.12938	0.4139:0.0915:0.0:0.4946	.	168	Q96PJ5	FCRL4_HUMAN	V	168	ENSP00000271532:I168V	ENSP00000271532:I168V	I	-	1	0	FCRL4	155824339	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.691000	0.05133	-0.883000	0.03982	-1.973000	0.00462	ATT		0.303	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		C	157557715	T	C	157557715	3	2	158	1	0	0	0	0	1	0	0	0	5799	1464	51	3	1081	3	FCRL4	1	157557715	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	3856575	157557715	91692906	12	9268											
TADA1	117143	hgsc.bcm.edu;ucsc.edu	37	1	166839078	166839078	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:166839078G>C	ENST00000367874.4	-	2	181	c.88C>G	c.(88-90)Cta>Gta	p.L30V		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	30					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						CACAGCTTTAGGTTAGCCCAG	0.388																																																0													107	108	108					1																	166839078		2203	4300	6503	SO:0001583	missense	117143			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.88C>G	1.37:g.166839078G>C	ENSP00000356848:p.Leu30Val		A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172771	0.57584	.	.	ENSG00000152382	ENST00000367874	T	0.59083	0.29	5.44	-6.41	0.01938	.	0.000000	0.64402	D	0.000003	T	0.41026	0.1141	L	0.38175	1.15	0.43819	D	0.996380	D;P	0.55605	0.972;0.889	P;P	0.51615	0.675;0.581	T	0.59653	-0.7414	9	0.66056	D	0.02	-16.7824	18.1714	0.89746	0.1852:0.0:0.8148:0.0	.	30;30	A8K4J9;Q96BN2	.;TADA1_HUMAN	V	30	ENSP00000356848:L30V	ENSP00000356848:L30V	L	-	1	2	TADA1	165105702	0.988000	0.35896	0.026000	0.17262	0.944000	0.59088	0.166000	0.16583	-1.160000	0.02804	-0.345000	0.07892	CTA		0.388	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		C	166839078	G	C	166839078	3	2	158	1	0	0	0	0	1	0	0	0	15514	991	35	4	947	4	TADA1	1	166839078	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	9281363	166839078	82411543	13	9269											
PROX1	5629	hgsc.bcm.edu	37	1	214170552	214170552	+	Missense_Mutation	SNP	T	T	A	rs146788962		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr1:214170552T>A	ENST00000366958.4	+	2	1282	c.674T>A	c.(673-675)gTt>gAt	p.V225D	PROX1_ENST00000498508.2_Missense_Mutation_p.V225D|PROX1_ENST00000261454.4_Missense_Mutation_p.V225D|PROX1_ENST00000435016.1_Missense_Mutation_p.V225D	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	225					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAGCAGCTGGTTTCAGCCCGA	0.542																																																0													34	39	38					1																	214170552		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.674T>A	1.37:g.214170552T>A	ENSP00000355925:p.Val225Asp		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.907367	0.52333	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.93	4.81	0.61882	.	0.113131	0.64402	D	0.000012	T	0.43433	0.1247	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.19095	-1.0316	10	0.41790	T	0.15	-2.9286	11.6533	0.51301	0.0:0.0697:0.0:0.9303	.	225	Q92786	PROX1_HUMAN	D	225	ENSP00000420283:V225D;ENSP00000355925:V225D;ENSP00000400694:V225D;ENSP00000261454:V225D	ENSP00000261454:V225D	V	+	2	0	PROX1	212237175	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.276000	0.72601	1.069000	0.40788	0.533000	0.62120	GTT		0.542	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		A	214170552	T	A	214170552	3	1	158	1	0	0	0	0	1	0	0	0	12565	1725	60	5	676	5	PROX1	1	214170552	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	47331474	214170552	35080069	14	9270											
HS1BP3	64342	hgsc.bcm.edu	37	2	20838372	20838372	+	Silent	SNP	A	A	G	rs113332675		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr2:20838372A>G	ENST00000304031.3	-	4	472	c.447T>C	c.(445-447)gaT>gaC	p.D149D	HS1BP3_ENST00000402541.1_Silent_p.D149D	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	149							phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACAGAGGAATCTCTGCTGG	0.562																																																0													101	96	97					2																	20838372		2203	4300	6503	SO:0001819	synonymous_variant	64342				CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.447T>C	2.37:g.20838372A>G			B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	37	CCDS1700.1																																																																																				0.562	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		G	20838372	A	G	20838372	2	3	158	1	0	0	0	0	0	0	0	1	7363	98	4	3		3	HS1BP3	2	20838372	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10		20838372	222361001	15	9271											
USP34	9736	hgsc.bcm.edu	37	2	61571101	61571101	+	Silent	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr2:61571101T>C	ENST00000398571.2	-	16	2425	c.2349A>G	c.(2347-2349)gcA>gcG	p.A783A		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	783					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTCTGATTTTGCACTAACCT	0.393																																																0													111	100	103					2																	61571101		1891	4120	6011	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2349A>G	2.37:g.61571101T>C			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1																																																																																				0.393	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			C	61571101	T	C	61571101	2	2	158	1	0	0	0	0	0	0	0	1	17070	1799	63	3		3	USP34	2	61571101	Silent	SNP	T	TCGA-B0-4841-01A-01D-1361-10	40732729	61571101	181628272	16	9272											
TTN	7273	hgsc.bcm.edu	37	2	179648812	179648812	+	Missense_Mutation	SNP	G	G	T	rs138788406	byFrequency	TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr2:179648812G>T	ENST00000591111.1	-	16	2984	c.2760C>A	c.(2758-2760)caC>caA	p.H920Q	TTN_ENST00000342992.6_Missense_Mutation_p.H920Q|TTN_ENST00000460472.2_Missense_Mutation_p.H874Q|TTN_ENST00000342175.6_Missense_Mutation_p.H874Q|TTN_ENST00000589042.1_Missense_Mutation_p.H920Q|TTN_ENST00000360870.5_Missense_Mutation_p.H920Q|TTN_ENST00000359218.5_Missense_Mutation_p.H874Q			Q8WZ42	TITIN_HUMAN	titin	33619					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)			CTTCGCGTCCGTGCAGTACTT	0.532																																																0													126	104	111					2																	179648812		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2760C>A	2.37:g.179648812G>T	ENSP00000465570:p.His920Gln		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	10.33	1.320054	0.23994	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.61859	0.07;0.31;0.29;0.3;0.48	5.52	-7.75	0.01236	Ribonuclease H-like (1);	.	.	.	.	T	0.27629	0.0679	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.11235	0.0;0.0;0.0;0.0;0.004	B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.002	T	0.22034	-1.0228	9	0.87932	D	0	.	2.8763	0.05632	0.5216:0.1684:0.176:0.1339	.	874;874;874;920;920	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	920;874;874;874;874;920	ENSP00000343764:H920Q;ENSP00000434586:H874Q;ENSP00000340554:H874Q;ENSP00000352154:H874Q;ENSP00000354117:H920Q	ENSP00000340554:H874Q	H	-	3	2	TTN	179357057	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.637000	0.05459	-1.177000	0.02744	0.655000	0.94253	CAC		0.532	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179648812	G	T	179648812	3	4	158	1	0	0	0	0	1	0	0	0	16740	1136	40	4	108616	4	TTN	2	179648812	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	118077711	179648812	63550561	17	9273											
ADAM23	8745	hgsc.bcm.edu	37	2	207424812	207424812	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr2:207424812A>T	ENST00000264377.3	+	11	1467	c.1139A>T	c.(1138-1140)aAg>aTg	p.K380M	ADAM23_ENST00000374415.3_Missense_Mutation_p.K380M|ADAM23_ENST00000374416.1_Missense_Mutation_p.K380M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	380	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAGCGCATTAAGCAGCATGCT	0.473																																					Melanoma(194;1127 2130 19620 24042 27855)											0													116	91	99					2																	207424812		2203	4300	6503	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1139A>T	2.37:g.207424812A>T	ENSP00000264377:p.Lys380Met		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762270	0.49468	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.09255	3.0;3.0;3.0	5.64	3.15	0.36227	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.189972	0.36134	N	0.002764	T	0.25494	0.0620	L	0.60455	1.87	0.43536	D	0.99582	D	0.57899	0.981	D	0.64321	0.924	T	0.00127	-1.2019	10	0.87932	D	0	.	12.0194	0.53333	0.8639:0.0:0.1361:0.0	.	380	O75077	ADA23_HUMAN	M	380;380;274;380	ENSP00000264377:K380M;ENSP00000363537:K380M;ENSP00000363536:K380M	ENSP00000264377:K380M	K	+	2	0	ADAM23	207133057	1.000000	0.71417	0.988000	0.46212	0.716000	0.41182	4.139000	0.58024	0.052000	0.16007	-1.447000	0.01057	AAG		0.473	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		T	207424812	A	T	207424812	3	4	158	1	0	0	0	0	1	0	0	0	245	72	3	5	1181	5	ADAM23	2	207424812	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	27776000	207424812	35774561	18	9274											
C2orf24	27013	hgsc.bcm.edu	37	2	220038162	220038162	+	Silent	SNP	T	T	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr2:220038162T>A	ENST00000409789.1	-	8	1027	c.600A>T	c.(598-600)cgA>cgT	p.R200R	CNPPD1_ENST00000360507.5_Silent_p.R200R			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	200					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TGTACCAGCCTCGCCACCGTC	0.622																																																0													44	43	44					2																	220038162		2203	4300	6503	SO:0001819	synonymous_variant	0			AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 24"	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.600A>T	2.37:g.220038162T>A			B2RC77|O75548|Q9H4N0|Q9UQN0	Silent	SNP	ENST00000409789.1	37	CCDS2433.1																																																																																				0.622	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		A	220038162	T	A	220038162	2	1	158	1	0	0	0	0	0	0	0	1	2161	1538	54	5		5	C2orf24	2	220038162	Silent	SNP	T	TCGA-B0-4841-01A-01D-1361-10	12613350	220038162	23161211	19	9275											
CIDEC	63924	hgsc.bcm.edu	37	3	9908860	9908860	+	Silent	SNP	C	C	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr3:9908860C>T	ENST00000336832.2	-	6	814	c.675G>A	c.(673-675)aaG>aaA	p.K225K	CIDEC_ENST00000423850.1_Silent_p.K151K|CIDEC_ENST00000443115.1_Missense_Mutation_p.G110S|CIDEC_ENST00000430427.1_Silent_p.K235K|CIDEC_ENST00000383817.1_Missense_Mutation_p.G110S|CIDEC_ENST00000455015.1_Silent_p.K151K	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	225					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GGGATGAGGCCTTGCCCTTGG	0.587																																																0													109	107	108					3																	9908860		2203	4300	6503	SO:0001819	synonymous_variant	63924				CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.675G>A	3.37:g.9908860C>T			C9JMN7|Q67DW9|Q9GZY9	Silent	SNP	ENST00000336832.2	37	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	c	9.217	1.032363	0.19590	.	.	ENSG00000187288	ENST00000383817;ENST00000443115	.	.	.	5.04	-0.228	0.13098	.	.	.	.	.	T	0.29126	0.0724	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.17098	0.017	T	0.30387	-0.9980	7	0.87932	D	0	-7.4783	5.9144	0.19048	0.0:0.4658:0.2745:0.2597	.	110	Q96AQ7-3	.	S	110	.	ENSP00000373328:G110S	G	-	1	0	CIDEC	9883860	0.000000	0.05858	0.118000	0.21660	0.616000	0.37450	-0.156000	0.10100	0.044000	0.15775	-0.253000	0.11424	GGC		0.587	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		T	9908860	C	T	9908860	2	4	158	1	0	0	0	0	0	0	0	1	3429	680	24	2		2	CIDEC	3	9908860	Silent	SNP	C	TCGA-B0-4841-01A-01D-1361-10		9908860	188113570	20	9276											
XPC	7508	hgsc.bcm.edu	37	3	14193901	14193901	+	Silent	SNP	A	A	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr3:14193901A>T	ENST00000285021.7	-	11	2263	c.2049T>A	c.(2047-2049)acT>acA	p.T683T	XPC_ENST00000449060.2_Silent_p.T646T	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	683	DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGAATGCAGAGTGTGCACAC	0.582			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"xeroderma pigmentosum, complementation group C"		E	0													95	102	100					3																	14193901		2086	4209	6295	SO:0001819	synonymous_variant	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2049T>A	3.37:g.14193901A>T			B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	A	0.131	-1.113627	0.01799	.	.	ENSG00000154767	ENST00000538683	.	.	.	5.05	-1.47	0.08772	.	.	.	.	.	T	0.40670	0.1126	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27400	-1.0075	4	.	.	.	-12.1997	2.3679	0.04324	0.3029:0.295:0.3025:0.0996	.	.	.	.	T	126	.	.	S	-	1	0	XPC	14168902	0.000000	0.05858	0.674000	0.29902	0.026000	0.11368	-2.311000	0.01128	-0.104000	0.12154	-1.247000	0.01520	TCT		0.582	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		T	14193901	A	T	14193901	2	4	158	1	0	0	0	0	0	0	0	1	17446	291	11	5		5	XPC	3	14193901	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10	4285041	14193901	183828529	21	9277											
IL1RAP	3556	hgsc.bcm.edu;ucsc.edu	37	3	190322001	190322001	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr3:190322001T>G	ENST00000412504.2	+	3	401	c.149T>G	c.(148-150)tTt>tGt	p.F50C	IL1RAP_ENST00000439062.1_Missense_Mutation_p.F50C|IL1RAP_ENST00000422485.1_Missense_Mutation_p.F50C|IL1RAP_ENST00000422940.1_Missense_Mutation_p.F50C|IL1RAP_ENST00000447382.1_Missense_Mutation_p.F50C|IL1RAP_ENST00000443369.2_Missense_Mutation_p.F50C|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000072516.3_Missense_Mutation_p.F50C|IL1RAP_ENST00000317757.3_Missense_Mutation_p.F50C			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	50	Ig-like C2-type 1.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGCCCACTCTTTGAACACTTC	0.483																																																0													110	99	103					3																	190322001		2203	4300	6503	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.149T>G	3.37:g.190322001T>G	ENSP00000412053:p.Phe50Cys		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663279	0.67700	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422625;ENST00000422485;ENST00000422940;ENST00000317757;ENST00000453359	T;T;T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.46	5.46	0.80206	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	L	0.58428	1.81	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.997	D	0.87242	0.2267	10	0.87932	D	0	.	15.0142	0.71570	0.0:0.0:0.0:1.0	.	50;50;50	Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;IL1AP_HUMAN;.	C	50	ENSP00000072516:F50C;ENSP00000408893:F50C;ENSP00000412053:F50C;ENSP00000401132:F50C;ENSP00000390541:F50C;ENSP00000389149:F50C;ENSP00000409352:F50C;ENSP00000387371:F50C;ENSP00000314807:F50C;ENSP00000412008:F50C	ENSP00000072516:F50C	F	+	2	0	IL1RAP	191804695	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.366000	0.79548	2.206000	0.71126	0.533000	0.62120	TTT		0.483	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			G	190322001	T	G	190322001	3	3	158	1	0	0	0	0	1	0	0	0	7662	1841	64	5	155	5	IL1RAP	3	190322001	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	176128100	190322001	7700429	22	9278											
TMPRSS11F	389208	hgsc.bcm.edu	37	4	68930482	68930482	+	Silent	SNP	A	A	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr4:68930482A>G	ENST00000356291.2	-	8	995	c.936T>C	c.(934-936)gtT>gtC	p.V312V	UBA6-AS1_ENST00000500538.2_RNA|RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	312	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CTGGGAGGCAAACTCTCTGGA	0.378																																																0													66	65	66					4																	68930482		2203	4300	6503	SO:0001819	synonymous_variant	389208			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.936T>C	4.37:g.68930482A>G			A8MXX2	Silent	SNP	ENST00000356291.2	37	CCDS3520.1																																																																																				0.378	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		G	68930482	A	G	68930482	2	3	158	1	0	0	0	0	0	0	0	1	16248	1	1	3		3	TMPRSS11F	4	68930482	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10		68930482	122223794	23	9279											
UGT2B28	54490	hgsc.bcm.edu	37	4	70160277	70160277	+	Missense_Mutation	SNP	T	T	G	rs6843900	byFrequency	TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr4:70160277T>G	ENST00000335568.5	+	6	1342	c.1340T>G	c.(1339-1341)aTa>aGa	p.I447R	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	447			I -> R (in dbSNP:rs6843900). {ECO:0000269|PubMed:19054851}.		metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.I447R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATTATCAATAATTCAACAT	0.373													N|||	1888	0.376997	0.2678	0.4524	5008	,	,		13055	0.3819		0.4771	False		,,,				2504	0.363															1	Substitution - Missense(1)	stomach(1)						G	,ARG/ILE	1389,2641		443,503,1069	39	46	44		,1340	2.2	0	4	dbSNP_116	44	4242,4208		1321,1600,1304	no	utr-3,missense	UGT2B28	NM_001207004.1,NM_053039.1	,97	1764,2103,2373	GG,GT,TT		49.7988,34.4665,45.1202	,benign	,447/530	70160277	5631,6849	2015	4225	6240	SO:0001583	missense	54490			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1340T>G	4.37:g.70160277T>G	ENSP00000334276:p.Ile447Arg		B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	CCDS3528.1	804	0.36813186813186816	101	0.20528455284552846	146	0.40331491712707185	198	0.34615384615384615	359	0.4736147757255937	-	0	-2.861548	0.00064	0.344665	0.502012	ENSG00000135226	ENST00000335568	T	0.60040	0.22	2.17	2.17	0.27698	.	0.310296	0.24102	N	0.041536	T	0.00012	0.0000	N	0.00504	-1.425	0.09310	P	0.999999892799	B	0.02656	0.0	B	0.01281	0.0	T	0.46148	-0.9212	9	0.02654	T	1	.	7.8253	0.29311	0.0:0.0:0.7495:0.2504	rs6843900;rs52813205	447	Q9BY64	UDB28_HUMAN	R	447	ENSP00000334276:I447R	ENSP00000334276:I447R	I	+	2	0	UGT2B28	70194866	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	0.223000	0.17719	0.254000	0.21573	-1.122000	0.02009	ATA		0.373	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		G	70160277	T	G	70160277	3	3	158	1	0	0	0	0	1	0	0	0	16965	1406	49	5	1362	5	UGT2B28	4	70160277	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	1229795	70160277	120993999	24	9280											
KLHL8	57563	hgsc.bcm.edu;ucsc.edu	37	4	88099693	88099693	+	Silent	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr4:88099693G>A	ENST00000273963.5	-	5	1373	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N	KLHL8_ENST00000425278.2_Silent_p.N161N|KLHL8_ENST00000512111.1_Silent_p.N344N|KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000498875.2_Silent_p.N268N	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	344					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGAACCAACTGTTTTTGTTGA	0.433																																																0													156	144	148					4																	88099693		2203	4300	6503	SO:0001819	synonymous_variant	57563			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1032C>T	4.37:g.88099693G>A			Q53XA3|Q6N018	Silent	SNP	ENST00000273963.5	37	CCDS3617.1																																																																																				0.433	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			A	88099693	G	A	88099693	2	1	158	1	0	0	0	0	0	0	0	1	8397	1368	48	2		2	KLHL8	4	88099693	Silent	SNP	G	TCGA-B0-4841-01A-01D-1361-10	17939416	88099693	103054583	25	9281											
COL25A1	84570	hgsc.bcm.edu;ucsc.edu	37	4	109790280	109790280	+	Silent	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr4:109790280T>C	ENST00000399132.1	-	20	1577	c.1047A>G	c.(1045-1047)caA>caG	p.Q349Q	COL25A1_ENST00000399127.1_Silent_p.Q345Q|COL25A1_ENST00000399126.1_Silent_p.Q349Q	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTGGTTCTCCTTGAGGACCAA	0.323																																																0													80	80	80					4																	109790280		1823	4071	5894	SO:0001819	synonymous_variant	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1047A>G	4.37:g.109790280T>C				Silent	SNP	ENST00000399132.1	37	CCDS43258.1																																																																																				0.323	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		C	109790280	T	C	109790280	2	2	158	1	0	0	0	0	0	0	0	1	3686	1606	56	3		3	COL25A1	4	109790280	Silent	SNP	T	TCGA-B0-4841-01A-01D-1361-10	21690587	109790280	81363996	26	9282											
LRIT3	345193	hgsc.bcm.edu	37	4	110791088	110791090	+	In_Frame_Del	DEL	TCT	TCT	-	rs147608421	byFrequency	TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr4:110791088_110791090delTCT	ENST00000594814.1	+	4	1183_1185	c.1183_1185delTCT	c.(1183-1185)tctdel	p.S396del	LRIT3_ENST00000327908.3_In_Frame_Del_p.S213del|LRIT3_ENST00000409621.2_In_Frame_Del_p.S213del|LRIT3_ENST00000379920.3_In_Frame_Del_p.S351del	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	396	Ser-rich.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ctcccccacatcttctttttctg	0.468														51	0.0101837	0.0008	0.0144	5008	,	,		20485	0.0		0.0358	False		,,,				2504	0.0041															0										44,4218		0,44,2087						-0.7	0		dbSNP_134	191	335,7909		12,311,3799	no	coding	LRIT3	NM_198506.2		12,355,5886	A1A1,A1R,RR		4.0636,1.0324,3.0305				379,12127				SO:0001651	inframe_deletion	345193			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1183_1185delTCT	4.37:g.110791091_110791093delTCT	ENSP00000469759:p.Ser396del		C9J1C2|Q6ZTG1	In_Frame_Del	DEL	ENST00000594814.1	37	CCDS3688.3																																																																																				0.468	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		-	110791090	TCT	-	110791088	7	5	158	1	0	1	0	1	0	0	0	0	8951	1435	50	0	1058	0	LRIT3	4	110791088	In_Frame_Del	DEL	TCT	TCGA-B0-4841-01A-01D-1361-10	1000808	110791088	80363188	27	9283											
USP53	54532	hgsc.bcm.edu;ucsc.edu	37	4	120192821	120192821	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr4:120192821A>C	ENST00000274030.6	+	16	2985	c.1806A>C	c.(1804-1806)aaA>aaC	p.K602N	USP53_ENST00000450251.1_Missense_Mutation_p.K602N	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AAAGTGAAAAAAGACAGCATA	0.368																																																0													62	59	60					4																	120192821		1833	4077	5910	SO:0001583	missense	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1806A>C	4.37:g.120192821A>C	ENSP00000274030:p.Lys602Asn			Missense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759191	0.69763	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.34275	1.37;1.37	5.58	0.502	0.16932	.	0.125792	0.53938	D	0.000058	T	0.40909	0.1136	M	0.70595	2.14	0.26292	N	0.978115	P	0.52577	0.954	P	0.47981	0.563	T	0.39563	-0.9608	10	0.87932	D	0	-23.0851	10.019	0.42031	0.6751:0.0:0.3249:0.0	.	602	Q70EK8	UBP53_HUMAN	N	602	ENSP00000274030:K602N;ENSP00000409906:K602N	ENSP00000274030:K602N	K	+	3	2	USP53	120412269	0.141000	0.22595	1.000000	0.80357	0.976000	0.68499	0.472000	0.22116	0.375000	0.24679	0.460000	0.39030	AAA		0.368	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		C	120192821	A	C	120192821	3	2	158	1	0	0	0	0	1	0	0	0	17089	11	1	5	1852	5	USP53	4	120192821	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	9401733	120192821	70961455	28	9284											
CCRN4L	25819	hgsc.bcm.edu;ucsc.edu	37	4	139965861	139965861	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr4:139965861T>C	ENST00000280614.2	+	3	722	c.529T>C	c.(529-531)Tgt>Cgt	p.C177R	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	177					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					AGAAAGGAAATGTCTCATCCT	0.463																																					Ovarian(144;566 1842 19130 21379 22209)											0													92	87	89					4																	139965861		2203	4300	6503	SO:0001583	missense	25819			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.529T>C	4.37:g.139965861T>C	ENSP00000280614:p.Cys177Arg		D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	ENST00000280614.2	37	CCDS3743.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429813	0.25726	.	.	ENSG00000151014	ENST00000280614	T	0.26660	1.72	5.14	5.14	0.70334	Endonuclease/exonuclease/phosphatase (2);	0.060985	0.85682	D	0.000000	T	0.07683	0.0193	N	0.00419	-1.52	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.26985	-1.0087	9	.	.	.	-13.4123	14.9463	0.71035	0.0:0.0:0.0:1.0	.	177	Q9UK39	NOCT_HUMAN	R	177	ENSP00000280614:C177R	.	C	+	1	0	CCRN4L	140185311	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.030000	0.64128	1.938000	0.56188	0.454000	0.30748	TGT		0.463	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		C	139965861	T	C	139965861	3	2	158	1	0	0	0	0	1	0	0	0	2953	1464	51	3	539	3	CCRN4L	4	139965861	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	19773040	139965861	51188415	29	9285											
C4orf27	54969	hgsc.bcm.edu;ucsc.edu	37	4	170671701	170671701	+	Silent	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr4:170671701G>A	ENST00000393381.2	-	3	459	c.384C>T	c.(382-384)caC>caT	p.H128H		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	128						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		AATACCCCATGTGGTACTGAG	0.393																																																0													102	105	104					4																	170671701		2203	4300	6503	SO:0001819	synonymous_variant	54969			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.384C>T	4.37:g.170671701G>A				Silent	SNP	ENST00000393381.2	37	CCDS3813.1																																																																																				0.393	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		A	170671701	G	A	170671701	2	1	158	1	0	0	0	0	0	0	0	1	2260	1368	48	2		2	C4orf27	4	170671701	Silent	SNP	G	TCGA-B0-4841-01A-01D-1361-10	30705840	170671701	20482575	30	9286											
SKIV2L2	23517	hgsc.bcm.edu;ucsc.edu	37	5	54645468	54645468	+	Silent	SNP	A	A	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr5:54645468A>G	ENST00000230640.5	+	12	1562	c.1308A>G	c.(1306-1308)aaA>aaG	p.K436K	SKIV2L2_ENST00000545714.1_Silent_p.K335K	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	436	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATGAAGATAAAAAACTCCCTC	0.308																																					Melanoma(2;92 134 23744 29976 33782)											0													62	67	66					5																	54645468		2203	4299	6502	SO:0001819	synonymous_variant	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1308A>G	5.37:g.54645468A>G			Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																				0.308	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			G	54645468	A	G	54645468	2	3	158	1	0	0	0	0	0	0	0	1	14366	11	1	3		3	SKIV2L2	5	54645468	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10		54645468	126269792	31	9287											
BDP1	55814	hgsc.bcm.edu;ucsc.edu	37	5	70855948	70855948	+	Silent	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr5:70855948G>A	ENST00000358731.4	+	37	7643	c.7380G>A	c.(7378-7380)gtG>gtA	p.V2460V	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2460					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAAGAATGTGCCTCAGTTAC	0.438																																																0													131	120	124					5																	70855948		1963	4164	6127	SO:0001819	synonymous_variant	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7380G>A	5.37:g.70855948G>A			Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	CCDS43328.1																																																																																				0.438	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		A	70855948	G	A	70855948	2	1	158	1	0	0	0	0	0	0	0	1	1395	1306	46	2		2	BDP1	5	70855948	Silent	SNP	G	TCGA-B0-4841-01A-01D-1361-10	16210480	70855948	110059312	32	9288											
ADAMTS19	171019	hgsc.bcm.edu	37	5	128956323	128956323	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr5:128956323C>A	ENST00000274487.4	+	9	1618	c.1473C>A	c.(1471-1473)aaC>aaA	p.N491K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	491	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGGGCATTAACCATGACAATG	0.338																																																0													106	96	100					5																	128956323		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1473C>A	5.37:g.128956323C>A	ENSP00000274487:p.Asn491Lys			Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634563	0.47049	.	.	ENSG00000145808	ENST00000274487	T	0.62364	0.03	4.51	0.914	0.19360	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.063726	0.64402	D	0.000014	T	0.62036	0.2395	L	0.31578	0.945	0.48236	D	0.99961	D	0.63880	0.993	D	0.69654	0.965	T	0.55736	-0.8094	9	.	.	.	.	8.7657	0.34702	0.0:0.4112:0.0:0.5888	.	491	Q8TE59	ATS19_HUMAN	K	491	ENSP00000274487:N491K	.	N	+	3	2	ADAMTS19	128984222	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.717000	0.25851	0.150000	0.19136	-0.302000	0.09304	AAC		0.338	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		A	128956323	C	A	128956323	3	1	158	1	0	0	0	0	1	0	0	0	264	506	18	4	1507	4	ADAMTS19	5	128956323	Missense_Mutation	SNP	C	TCGA-B0-4841-01A-01D-1361-10	58100375	128956323	51958937	33	9289											
FAM135A	57579	hgsc.bcm.edu;ucsc.edu	37	6	71235353	71235353	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr6:71235353A>T	ENST00000418814.2	+	15	3180	c.2566A>T	c.(2566-2568)Aag>Tag	p.K856*	FAM135A_ENST00000361499.3_Nonsense_Mutation_p.K660*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.K643*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.K856*|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000370479.3_Nonsense_Mutation_p.K643*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	856										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGAAAATTCTAAGAAATCTGT	0.353																																																0													48	48	48					6																	71235353		2201	4294	6495	SO:0001587	stop_gained	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2566A>T	6.37:g.71235353A>T	ENSP00000410768:p.Lys856*		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Nonsense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	40	8.125103	0.98665	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	.	.	.	5.98	5.98	0.97165	.	0.063077	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	.	.	.	X	856;643;643;660;856	.	ENSP00000354913:K660X	K	+	1	0	FAM135A	71292074	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.599000	0.67592	2.289000	0.77006	0.482000	0.46254	AAG		0.353	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		T	71235353	A	T	71235353	4	4	158	1	0	0	0	0	0	1	0	0	5450	363	13	5	2694	5	FAM135A	6	71235353	Nonsense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10		71235353	99879714	34	9290											
SNX3	8724	hgsc.bcm.edu	37	6	108533446	108533446	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr6:108533446A>T	ENST00000230085.8	-	4	734	c.396T>A	c.(394-396)caT>caA	p.H132Q	SNX3_ENST00000349379.5_Missense_Mutation_p.H110Q|SNX3_ENST00000426155.2_Missense_Mutation_p.H100Q	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	132	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				hemoglobin biosynthetic process (GO:0042541)|intracellular protein transport (GO:0006886)|intralumenal vesicle formation (GO:0070676)|membrane invagination (GO:0010324)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein transport (GO:0051224)|negative regulation of viral entry into host cell (GO:0046597)|regulation of cellular protein metabolic process (GO:0032268)|regulation of intracellular protein transport (GO:0033157)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein phosphatase binding (GO:0019903)			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		GTGCCAGAGGATGACCAGCGA	0.333																																																0													68	63	65					6																	108533446		2203	4300	6503	SO:0001583	missense	8724			AF034546	CCDS5064.1, CCDS5065.1, CCDS75501.1	6q21	2010-08-05			ENSG00000112335	ENSG00000112335		"Sorting nexins"	11174	protein-coding gene	gene with protein product		605930				9819414	Standard	XM_005267192		Approved	Grd19	uc003psh.3	O60493	OTTHUMG00000015323	ENST00000230085.8:c.396T>A	6.37:g.108533446A>T	ENSP00000230085:p.His132Gln		A8K0B1|E1P5E4|E1P5E5|O60718|Q4TT29|Q4TT31|Q5JXJ7|Q5JXJ8|Q96AP9|Q9C0J5|Q9NU45	Missense_Mutation	SNP	ENST00000230085.8	37	CCDS5064.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.341944	0.61073	.	.	ENSG00000112335	ENST00000230085;ENST00000426155;ENST00000349379	T;T;T	0.43688	0.94;0.94;0.94	6.08	2.03	0.26663	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.61763	0.2373	H	0.95260	3.645	0.80722	D	1	D;D	0.71674	0.977;0.998	P;D	0.72625	0.907;0.978	T	0.68164	-0.5481	10	0.87932	D	0	-23.5158	8.4895	0.33091	0.6732:0.0:0.3268:0.0	.	100;132	O60493-2;O60493	.;SNX3_HUMAN	Q	132;100;110	ENSP00000230085:H132Q;ENSP00000401779:H100Q;ENSP00000296991:H110Q	ENSP00000230085:H132Q	H	-	3	2	SNX3	108640139	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.744000	0.26245	0.540000	0.28808	0.533000	0.62120	CAT		0.333	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041717.1			T	108533446	A	T	108533446	3	4	158	1	0	0	0	0	1	0	0	0	14905	330	12	5	96	5	SNX3	6	108533446	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	37298093	108533446	62581621	35	9291											
TPD52L1	7164	hgsc.bcm.edu;ucsc.edu	37	6	125569531	125569531	+	Splice_Site	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr6:125569531T>C	ENST00000534000.1	+	4	682		c.e4+2		TPD52L1_ENST00000534199.1_Splice_Site|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000368388.2_Splice_Site|TPD52L1_ENST00000368402.5_Splice_Site|TPD52L1_ENST00000532429.1_Splice_Site|TPD52L1_ENST00000527711.1_Splice_Site|TPD52L1_ENST00000392482.2_Splice_Site|TPD52L1_ENST00000528193.1_Splice_Site|TPD52L1_ENST00000530868.1_Splice_Site|TPD52L1_ENST00000524679.1_Splice_Site|TPD52L1_ENST00000304877.13_Splice_Site	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1						G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AGACATGAGGTACTGTGGGAA	0.473																																																0													113	91	99					6																	125569531		2203	4300	6503	SO:0001630	splice_region_variant	7164			U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.386+2T>C	6.37:g.125569531T>C			A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Splice_Site	SNP	ENST00000534000.1	37	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.385024	0.82792	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000368402;ENST00000368388;ENST00000527711;ENST00000528193;ENST00000532429;ENST00000534199;ENST00000392482;ENST00000524679;ENST00000392484	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7119	0.77635	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPD52L1	125611230	1.000000	0.71417	0.988000	0.46212	0.931000	0.56810	6.499000	0.73683	2.243000	0.73865	0.528000	0.53228	.		0.473	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2		Intron	C	125569531	T	C	125569531	5	2	158	1	0	0	0	0	0	0	1	0	16403	1652	57	3	402	3	TPD52L1	6	125569531	Splice_Site	SNP	T	TCGA-B0-4841-01A-01D-1361-10	17036085	125569531	45545536	36	9292											
PEX3	8504	hgsc.bcm.edu;ucsc.edu	37	6	143792575	143792575	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr6:143792575T>A	ENST00000367591.4	+	6	575	c.512T>A	c.(511-513)cTa>cAa	p.L171Q		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	171					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		ATTCAGCACCTACTTGGAGAT	0.299																																																0													99	101	101					6																	143792575		2203	4297	6500	SO:0001583	missense	8504			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.512T>A	6.37:g.143792575T>A	ENSP00000356563:p.Leu171Gln		Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659171	0.67586	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.67865	-0.29;-0.29	5.54	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.75882	0.3910	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.80248	-0.1461	10	0.87932	D	0	-7.2569	13.0049	0.58699	0.0:0.0:0.1349:0.8651	.	171;171	B4DV31;P56589	.;PEX3_HUMAN	Q	127;127;171	ENSP00000356564:L127Q;ENSP00000356563:L171Q	ENSP00000344195:L127Q	L	+	2	0	PEX3	143834268	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.295000	0.78780	1.008000	0.39264	0.482000	0.46254	CTA		0.299	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			A	143792575	T	A	143792575	3	1	158	1	0	0	0	0	1	0	0	0	11749	1522	53	5	534	5	PEX3	6	143792575	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	18223044	143792575	27322492	37	9293											
TCP10L2	401285	hgsc.bcm.edu	37	6	167595371	167595371	+	Silent	SNP	T	T	C	rs202096111	byFrequency	TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr6:167595371T>C	ENST00000366832.2	+	8	1160	c.1029T>C	c.(1027-1029)caT>caC	p.H343H		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	343										endometrium(1)|kidney(2)|lung(3)	6						GAGCTCTGCATGCCGCTCCCT	0.517													t|||	1572	0.313898	0.2784	0.3501	5008	,	,		7829	0.2867		0.3579	False		,,,				2504	0.319															0													63	45	50					6																	167595371		546	1228	1774	SO:0001819	synonymous_variant	401285				CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.1029T>C	6.37:g.167595371T>C				Silent	SNP	ENST00000366832.2	37	CCDS47514.1																																																																																				0.517	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		C	167595371	T	C	167595371	2	2	158	1	0	0	0	0	0	0	0	1	15717	1461	51	3		3	TCP10L2	6	167595371	Silent	SNP	T	TCGA-B0-4841-01A-01D-1361-10	23802796	167595371	3519696	38	9294											
PMS2	5395	hgsc.bcm.edu	37	7	6042131	6042131	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr7:6042131A>C	ENST00000265849.7	-	5	595	c.490T>G	c.(490-492)Tcc>Gcc	p.S164A	PMS2_ENST00000382321.4_Missense_Mutation_p.S164A|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.S58A|PMS2_ENST00000406569.3_Missense_Mutation_p.S164A|Y_RNA_ENST00000365120.1_RNA	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	164					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGTAGTGTGGAAAATAACTGC	0.438			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													72	83	79					7																	6042131		2203	4300	6503	SO:0001583	missense	5395	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		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.490T>G	7.37:g.6042131A>C	ENSP00000265849:p.Ser164Ala		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	A	2.215	-0.379763	0.05000	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476;ENST00000406569	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.4	5.4	0.78164	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.415239	0.26919	N	0.021838	T	0.64294	0.2585	L	0.39566	1.225	0.24408	N	0.994671	B;B;B;B	0.13594	0.001;0.005;0.002;0.008	B;B;B;B	0.27796	0.008;0.014;0.021;0.083	T	0.50415	-0.8831	10	0.15066	T	0.55	-10.54	9.7596	0.40524	0.8772:0.0:0.1228:0.0	.	164;164;164;58	P54278-3;P54278-2;P54278;C9J167	.;.;PMS2_HUMAN;.	A	164;117;164;58;164	ENSP00000265849:S164A;ENSP00000371758:S164A;ENSP00000392843:S58A;ENSP00000384308:S164A	ENSP00000265849:S164A	S	-	1	0	PMS2	6008657	1.000000	0.71417	0.031000	0.17742	0.062000	0.15995	3.498000	0.53302	2.056000	0.61249	0.455000	0.32223	TCC		0.438	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		C	6042131	A	C	6042131	3	2	158	1	0	0	0	0	1	0	0	0	12145	246	9	5	2142	5	PMS2	7	6042131	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10		6042131	153096532	39	9295											
ELMO1	9844	hgsc.bcm.edu;ucsc.edu	37	7	37311449	37311449	+	Silent	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr7:37311449T>C	ENST00000310758.4	-	5	878	c.231A>G	c.(229-231)ttA>ttG	p.L77L	ELMO1_ENST00000442504.1_Silent_p.L77L|ELMO1_ENST00000448602.1_Silent_p.L77L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	77					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGATGTGGTTAATCGAAGGA	0.353																																																0													145	148	147					7																	37311449		2203	4300	6503	SO:0001819	synonymous_variant	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.231A>G	7.37:g.37311449T>C			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	CCDS5449.1																																																																																				0.353	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		C	37311449	T	C	37311449	2	2	158	1	0	0	0	0	0	0	0	1	5067	1751	61	3		3	ELMO1	7	37311449	Silent	SNP	T	TCGA-B0-4841-01A-01D-1361-10	31269318	37311449	121827214	40	9296											
RAMP3	10268	hgsc.bcm.edu	37	7	45222989	45222989	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr7:45222989A>C	ENST00000242249.4	+	3	463	c.425A>C	c.(424-426)aAa>aCa	p.K142T	RAMP3_ENST00000481345.1_Missense_Mutation_p.K142T|RAMP3_ENST00000496212.1_Missense_Mutation_p.K142T	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	142					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TGGCGCAGCAAACGCACCGAC	0.627																																																0													105	97	100					7																	45222989		2203	4300	6503	SO:0001583	missense	10268			AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.425A>C	7.37:g.45222989A>C	ENSP00000242249:p.Lys142Thr		Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.624360	0.46840	.	.	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.55588	0.51;0.51;0.51	4.37	3.21	0.36854	.	0.105792	0.64402	D	0.000007	T	0.72455	0.3462	M	0.89095	3.005	0.48040	D	0.999573	D	0.76494	0.999	D	0.77004	0.989	T	0.72887	-0.4156	10	0.87932	D	0	-19.4188	7.8908	0.29677	0.8978:0.0:0.1022:0.0	.	142	O60896	RAMP3_HUMAN	T	142	ENSP00000242249:K142T;ENSP00000419012:K142T;ENSP00000418460:K142T	ENSP00000242249:K142T	K	+	2	0	RAMP3	45189514	1.000000	0.71417	0.492000	0.27490	0.116000	0.19942	3.313000	0.51935	0.533000	0.28675	0.533000	0.62120	AAA		0.627	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		C	45222989	A	C	45222989	3	2	158	1	0	0	0	0	1	0	0	0	13029	14	1	5	435	5	RAMP3	7	45222989	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	7911540	45222989	113915674	41	9297											
ZCWPW1	55063	hgsc.bcm.edu;ucsc.edu	37	7	100017327	100017327	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr7:100017327T>A	ENST00000398027.2	-	4	455	c.208A>T	c.(208-210)Aag>Tag	p.K70*	ZCWPW1_ENST00000360951.4_Nonsense_Mutation_p.K70*|ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000490721.1_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	70							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAACATTCTTCATGGTTGCT	0.483																																																0													155	142	146					7																	100017327		1860	4090	5950	SO:0001587	stop_gained	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.208A>T	7.37:g.100017327T>A	ENSP00000381109:p.Lys70*		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Nonsense_Mutation	SNP	ENST00000398027.2	37	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344262	0.41498	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	.	.	.	4.94	2.14	0.27477	.	0.306075	0.23716	N	0.045261	.	.	.	.	.	.	0.22342	N	0.999189	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.888	5.7601	0.18195	0.0:0.6678:0.0:0.3322	.	.	.	.	X	70	.	.	K	-	1	0	ZCWPW1	99855263	0.066000	0.20996	0.200000	0.23457	0.003000	0.03518	0.174000	0.16743	0.769000	0.33313	-0.242000	0.12053	AAG		0.483	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		A	100017327	T	A	100017327	4	1	158	1	0	0	0	0	0	1	0	0	17602	1792	62	5	1798	5	ZCWPW1	7	100017327	Nonsense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	54794338	100017327	59121336	42	9298											
ARHGEF5	7984	hgsc.bcm.edu;ucsc.edu	37	7	144070338	144070338	+	Silent	SNP	A	A	G	rs547539170	byFrequency	TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr7:144070338A>G	ENST00000056217.5	+	10	4275	c.4101A>G	c.(4099-4101)gaA>gaG	p.E1367E	ARHGEF5_ENST00000471847.2_Silent_p.E289E	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1367					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGACAGAGGAACTAATCTACC	0.522													G|||	36	0.0071885	0.0144	0.0014	5008	,	,		18804	0.0129		0.001	False		,,,				2504	0.002															0													155	140	145					7																	144070338		1993	4003	5996	SO:0001819	synonymous_variant	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4101A>G	7.37:g.144070338A>G			A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	3.868	-0.028589	0.07589	.	.	ENSG00000050327	ENST00000474817	.	.	.	4.54	0.331	0.15933	.	.	.	.	.	T	0.48059	0.1479	.	.	.	0.09310	P	0.9999999999999998	.	.	.	.	.	.	T	0.55036	-0.8203	3	.	.	.	-12.8845	9.8626	0.41123	0.3826:0.0:0.6174:0.0	.	.	.	.	S	621	.	.	N	+	2	0	ARHGEF5	143701271	0.999000	0.42202	0.988000	0.46212	0.452000	0.32318	0.526000	0.22971	-0.052000	0.13311	-0.716000	0.03619	AAC		0.522	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		G	144070338	A	G	144070338	2	3	158	1	0	0	0	0	0	0	0	1	909	40	2	3		3	ARHGEF5	7	144070338	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10	44053011	144070338	15068325	43	9299											
SSPO	23145	hgsc.bcm.edu	37	7	149480201	149480201	+	RNA	SNP	G	G	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr7:149480201G>T	ENST00000378016.2	+	0	2083							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGTGCAGGGTCTGTGTGG	0.597																																																0													83	89	87					7																	149480201		2174	4270	6444			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149480201G>T			Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.597	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149480201	G	T	149480201	1	4	158	0	1	0	0	0	0	0	0	0	15194	1232	43	4		4	SSPO	7	149480201	RNA	SNP	G	TCGA-B0-4841-01A-01D-1361-10	5409863	149480201	9658462	44	9300											
REPIN1	29803	hgsc.bcm.edu;ucsc.edu	37	7	150066808	150066808	+	5'UTR	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr7:150066808T>C	ENST00000397281.2	+	0	201				REPIN1_ENST00000540729.1_5'UTR|REPIN1_ENST00000466559.1_Intron|REPIN1_ENST00000479668.1_Missense_Mutation_p.I3T|REPIN1_ENST00000518462.1_Intron|REPIN1_ENST00000482680.1_Missense_Mutation_p.I3T|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Missense_Mutation_p.I3T|REPIN1_ENST00000444957.1_Intron|REPIN1_ENST00000425389.2_5'Flank|REPIN1_ENST00000518514.1_Intron	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1						DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCCATGGGGATAGGGGTGTCT	0.577																																																0													59	65	63					7																	150066808		1936	4134	6070	SO:0001623	5_prime_UTR_variant	29803			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000397281.2:c.-289T>C	7.37:g.150066808T>C			C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000397281.2	37	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682139	0.47991	.	.	ENSG00000214022	ENST00000479668;ENST00000489432;ENST00000482680;ENST00000461637	T	0.08720	3.06	3.93	3.93	0.45458	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.31998	-0.9923	9	0.72032	D	0.01	.	9.4703	0.38837	0.0:0.0:0.0:1.0	.	3	C9J3L7	.	T	3	ENSP00000417291:I3T	ENSP00000417756:I3T	I	+	2	0	REPIN1	149697741	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.767000	0.38501	2.021000	0.59480	0.482000	0.46254	ATA		0.577	REPIN1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_014374		C	150066808	T	C	150066808	1	2	158	0	1	0	0	0	0	0	0	0	13233	1406	49	3		3	REPIN1	7	150066808	5'UTR	SNP	T	TCGA-B0-4841-01A-01D-1361-10	586607	150066808	9071855	45	9301											
HMBOX1	79618	hgsc.bcm.edu;ucsc.edu	37	8	28827803	28827803	+	Silent	SNP	C	C	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr8:28827803C>T	ENST00000397358.3	+	4	971	c.267C>T	c.(265-267)tcC>tcT	p.S89S	HMBOX1_ENST00000444075.1_Silent_p.S89S|HMBOX1_ENST00000558662.1_Silent_p.S89S|HMBOX1_ENST00000355231.5_Silent_p.S89S|HMBOX1_ENST00000524238.1_Silent_p.S89S|HMBOX1_ENST00000403668.2_Silent_p.S89S|HMBOX1_ENST00000287701.10_Silent_p.S89S|HMBOX1_ENST00000519047.1_Silent_p.S89S|HMBOX1_ENST00000523613.1_Silent_p.S89S	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	89					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CTACAGCTTCCACACAGACGC	0.468																																																0													116	95	102					8																	28827803		2203	4300	6503	SO:0001819	synonymous_variant	79618			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"Homeoboxes / HNF class"	26137	protein-coding gene	gene with protein product	"homeobox telomere-binding protein 1"					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.267C>T	8.37:g.28827803C>T			A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Silent	SNP	ENST00000397358.3	37	CCDS6071.1																																																																																				0.468	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		T	28827803	C	T	28827803	2	4	158	1	0	0	0	0	0	0	0	1	7220	581	21	2		2	HMBOX1	8	28827803	Silent	SNP	C	TCGA-B0-4841-01A-01D-1361-10		28827803	117536219	46	9302											
RNF19A	25897	hgsc.bcm.edu;ucsc.edu	37	8	101271242	101271242	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr8:101271242T>C	ENST00000519449.1	-	11	2375	c.2059A>G	c.(2059-2061)Aat>Gat	p.N687D	RNF19A_ENST00000523255.1_5'Flank|RNF19A_ENST00000341084.2_Missense_Mutation_p.N687D	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	687	Interaction with CASR.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTCGTCTCATTTATCTTCATG	0.433											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													291	253	266					8																	101271242		2203	4300	6503	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.2059A>G	8.37:g.101271242T>C	ENSP00000428968:p.Asn687Asp	1357	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736107	0.49045	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84660	-1.88;-1.88	5.89	5.89	0.94794	.	0.044787	0.85682	D	0.000000	D	0.82884	0.5134	L	0.56769	1.78	0.80722	D	1	B	0.26635	0.155	B	0.23716	0.048	T	0.79140	-0.1926	10	0.31617	T	0.26	.	15.9805	0.80105	0.0:0.0:0.0:1.0	.	687	Q9NV58	RN19A_HUMAN	D	687	ENSP00000428968:N687D;ENSP00000342667:N687D	ENSP00000342667:N687D	N	-	1	0	RNF19A	101340418	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.841000	0.86834	2.250000	0.74265	0.477000	0.44152	AAT		0.433	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		C	101271242	T	C	101271242	3	2	158	1	0	0	0	0	1	0	0	0	13476	1841	64	3	461	3	RNF19A	8	101271242	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	72443439	101271242	45092780	47	9303											
GRHL2	79977	hgsc.bcm.edu;ucsc.edu	37	8	102586051	102586051	+	Splice_Site	SNP	G	G	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr8:102586051G>C	ENST00000251808.3	+	6	1228	c.890G>C	c.(889-891)aGg>aCg	p.R297T	GRHL2_ENST00000395927.1_Splice_Site_p.R281T	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	297					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGCAAAGTCAGGGTAGGGGCC	0.478																																																0													64	57	59					8																	102586051		2203	4300	6503	SO:0001630	splice_region_variant	79977			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.891+1G>C	8.37:g.102586051G>C			A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644145	0.87859	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.22945	1.93;1.93	5.7	5.7	0.88788	CP2 transcription factor (1);	0.085474	0.85682	D	0.000000	T	0.54743	0.1877	M	0.74881	2.28	0.80722	D	1	D;P	0.89917	1.0;0.616	D;B	0.87578	0.998;0.444	T	0.54912	-0.8222	10	0.62326	D	0.03	-36.5595	19.8232	0.96605	0.0:0.0:1.0:0.0	.	297;297	B4DL28;Q6ISB3	.;GRHL2_HUMAN	T	297;281;297	ENSP00000251808:R297T;ENSP00000379260:R281T	ENSP00000251808:R297T	R	+	2	0	GRHL2	102655227	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.835000	0.99442	2.684000	0.91462	0.650000	0.86243	AGG		0.478	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	Missense_Mutation	C	102586051	G	C	102586051	5	2	158	1	0	0	0	0	0	0	1	0	6766	1014	35	4	912	4	GRHL2	8	102586051	Splice_Site	SNP	G	TCGA-B0-4841-01A-01D-1361-10	1314809	102586051	43777971	48	9304											
TM7SF4	81501	hgsc.bcm.edu	37	8	105360797	105360797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr8:105360797C>A	ENST00000297581.2	+	2	66	c.17C>A	c.(16-18)tCa>tAa	p.S6*	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.S6*	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	6					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											ATCTGGACCTCAGGCACTGAT	0.458																																																0													78	74	75					8																	105360797		2203	4300	6503	SO:0001587	stop_gained	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.17C>A	8.37:g.105360797C>A	ENSP00000297581:p.Ser6*		B7ZVW2|E7ESG0|Q2M2D5	Nonsense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459061	0.26248	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	.	.	.	5.51	0.42	0.16444	.	1.287490	0.04936	N	0.457717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-0.2927	9.8908	0.41290	0.0:0.5781:0.0:0.4219	.	.	.	.	X	6	.	ENSP00000297581:S6X	S	+	2	0	TM7SF4	105429973	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.081000	0.11321	-0.217000	0.10033	-1.708000	0.00717	TCA		0.458	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		A	105360797	C	A	105360797	4	1	158	1	0	0	0	0	0	1	0	0	15981	838	29	4	19	4	TM7SF4	8	105360797	Nonsense_Mutation	SNP	C	TCGA-B0-4841-01A-01D-1361-10	2774746	105360797	41003225	49	9305											
FBP1	2203	hgsc.bcm.edu	37	9	97365720	97365720	+	Silent	SNP	T	T	C	rs1769257	byFrequency	TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr9:97365720T>C	ENST00000375326.4	-	7	1156	c.960A>G	c.(958-960)ggA>ggG	p.G320G	FBP1_ENST00000415431.1_Silent_p.G320G	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	320					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CGTCGGGGGATCCCAAGATCA	0.597											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	4543	0.907149	0.9826	0.9222	5008	,	,		18086	0.9563		0.8489	False		,,,				2504	0.8037				Ovarian(142;590 2466 25593 44496)											0			GRCh37	CI951932	FBP1	I	rs1769257	C	,	4243,163	108.6+/-147.0	2043,157,3	66	60	62		960,960	1.1	0.9	9	dbSNP_89	62	7271,1329	261.4+/-283.8	3060,1151,89	no	coding-synonymous,coding-synonymous	FBP1	NM_000507.3,NM_001127628.1	,	5103,1308,92	CC,CT,TT		15.4535,3.6995,11.4716	,	320/339,320/339	97365720	11514,1492	2203	4300	6503	SO:0001819	synonymous_variant	2203			M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.960A>G	9.37:g.97365720T>C		1327	O75571|Q53F94|Q96E46	Silent	SNP	ENST00000375326.4	37	CCDS6712.1																																																																																				0.597	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		C	97365720	T	C	97365720	2	2	158	1	0	0	0	0	0	0	0	1	5707	1422	50	3		3	FBP1	9	97365720	Silent	SNP	T	TCGA-B0-4841-01A-01D-1361-10		97365720	43847711	50	9306											
ZNF618	114991	hgsc.bcm.edu	37	9	116770786	116770786	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr9:116770786G>A	ENST00000374126.5	+	9	805	c.706G>A	c.(706-708)Gac>Aac	p.D236N	ZNF618_ENST00000288466.7_Missense_Mutation_p.D204N			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGTGGCCACGGACGAGGTGAA	0.667																																																0													47	55	53					9																	116770786		1945	4119	6064	SO:0001583	missense	114991			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.706G>A	9.37:g.116770786G>A	ENSP00000363241:p.Asp236Asn		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.119241	0.77323	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T	0.19669	4.43;2.7;2.13	5.98	5.98	0.97165	.	0.127353	0.56097	D	0.000036	T	0.16514	0.0397	N	0.14661	0.345	0.29584	N	0.848904	P;B;P;B;P	0.41848	0.651;0.094;0.653;0.143;0.763	B;B;B;B;B	0.41440	0.212;0.054;0.357;0.133;0.288	T	0.04229	-1.0967	10	0.28530	T	0.3	-26.0353	17.95	0.89050	0.0:0.0:1.0:0.0	.	204;204;236;204;204	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	N	236;204;192;204	ENSP00000288466:D204N;ENSP00000395400:D192N;ENSP00000363239:D204N	ENSP00000288466:D204N	D	+	1	0	ZNF618	115810607	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	8.692000	0.91284	2.847000	0.97988	0.591000	0.81541	GAC		0.667	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		A	116770786	G	A	116770786	3	1	158	1	0	0	0	0	1	0	0	0	18047	1174	41	2	640	2	ZNF618	9	116770786	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	19405066	116770786	24442645	51	9307											
DFNB31	25861	hgsc.bcm.edu	37	9	117168640	117168640	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr9:117168640G>A	ENST00000362057.3	-	9	2399	c.2231C>T	c.(2230-2232)aCg>aTg	p.T744M	DFNB31_ENST00000374059.3_Missense_Mutation_p.T393M|DFNB31_ENST00000265134.6_Missense_Mutation_p.T361M	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	744					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCACTGCGCGTCTGGGGCAG	0.612																																																0													84	76	79					9																	117168640		2203	4300	6503	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2231C>T	9.37:g.117168640G>A	ENSP00000354623:p.Thr744Met		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975643	0.34848	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.08282	3.98;3.97;3.11	5.29	4.4	0.53042	.	0.249383	0.40064	N	0.001193	T	0.12646	0.0307	L	0.60455	1.87	0.80722	D	1	D;B;P	0.54207	0.965;0.447;0.863	B;B;B	0.44224	0.444;0.058;0.232	T	0.02444	-1.1158	10	0.51188	T	0.08	-9.5537	14.1903	0.65635	0.0721:0.0:0.9278:0.0	.	744;744;393	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	M	361;393;744	ENSP00000265134:T361M;ENSP00000363172:T393M;ENSP00000354623:T744M	ENSP00000265134:T361M	T	-	2	0	DFNB31	116208461	0.997000	0.39634	0.776000	0.31678	0.418000	0.31294	6.028000	0.70889	1.252000	0.44001	-0.133000	0.14855	ACG		0.612	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		A	117168640	G	A	117168640	3	1	158	1	0	0	0	0	1	0	0	0	4457	1145	40	1	508	1	DFNB31	9	117168640	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	397854	117168640	24044791	52	9308											
GAPVD1	26130	hgsc.bcm.edu	37	9	128086083	128086083	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr9:128086083C>A	ENST00000495955.1	+	11	2029	c.1739C>A	c.(1738-1740)tCa>tAa	p.S580*	GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.S580*|GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.S580*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.S559*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.S580*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.S580*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.S580*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.S559*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	580					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTAGGTCCTTCAAATCGCTCC	0.418																																																0													88	77	81					9																	128086083		2203	4300	6503	SO:0001587	stop_gained	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1739C>A	9.37:g.128086083C>A	ENSP00000419063:p.Ser580*		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	ENST00000495955.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	41|41|41	8.573983|8.573983|8.573983	0.98868|0.98868|0.98868	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000431329|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.|.	.|.|.	.|.|.	4.87|4.87|4.87	4.87|4.87|4.87	0.63330|0.63330|0.63330	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|.	0.43634|0.43634|.	0.1256|0.1256|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.40997|0.40997|.	-0.9533|-0.9533|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	.|.|.	16.9822|16.9822|16.9822	0.86331|0.86331|0.86331	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	L|K|X	416|443|580;580;580;580;559;580;580;580;559	.|.|.	.|.|ENSP00000265956:S580X	F|Q|S	+|+|+	3|1|2	2|0|0	GAPVD1|GAPVD1|GAPVD1	127125904|127125904|127125904	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	7.412000|7.412000|7.412000	0.80091|0.80091|0.80091	2.270000|2.270000|2.270000	0.75569|0.75569|0.75569	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	TTC|CAA|TCA		0.418	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			A	128086083	C	A	128086083	4	1	158	1	0	0	0	0	0	1	0	0	6241	838	29	4	1769	4	GAPVD1	9	128086083	Nonsense_Mutation	SNP	C	TCGA-B0-4841-01A-01D-1361-10	10917443	128086083	13127348	53	9309											
MED27	9442	hgsc.bcm.edu	37	9	134889741	134889741	+	Silent	SNP	A	A	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr9:134889741A>G	ENST00000292035.5	-	3	525	c.462T>C	c.(460-462)acT>acC	p.T154T	MED27_ENST00000357028.2_Silent_p.T154T	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	154					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		GTAGGACAAGAGTTGTGGGCT	0.418																																					Colon(41;784 923 6932 42329 52483)											0													148	127	134					9																	134889741		2203	4300	6503	SO:0001819	synonymous_variant	9442			AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.462T>C	9.37:g.134889741A>G			O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Silent	SNP	ENST00000292035.5	37	CCDS6945.1																																																																																				0.418	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		G	134889741	A	G	134889741	2	3	158	1	0	0	0	0	0	0	0	1	9447	291	11	3		3	MED27	9	134889741	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10	6803658	134889741	6323690	54	9310											
HPSE2	60495	hgsc.bcm.edu;ucsc.edu	37	10	100503663	100503663	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr10:100503663T>C	ENST00000370552.3	-	4	820	c.761A>G	c.(760-762)aAc>aGc	p.N254S	HPSE2_ENST00000370546.1_Missense_Mutation_p.N254S|HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370549.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	254					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCAAGAAATGTTGTACTTTTT	0.408																																																0													133	127	129					10																	100503663		2203	4300	6503	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.761A>G	10.37:g.100503663T>C	ENSP00000359583:p.Asn254Ser		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287494	0.80803	.	.	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.33865	1.39;1.39	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	M	0.67397	2.05	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.77004	0.98;0.989	T	0.51403	-0.8710	10	0.19590	T	0.45	-14.1413	16.2237	0.82280	0.0:0.0:0.0:1.0	.	254;254	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	S	254	ENSP00000359583:N254S;ENSP00000359577:N254S	ENSP00000359577:N254S	N	-	2	0	HPSE2	100493653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.289000	0.77006	0.482000	0.46254	AAC		0.408	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		C	100503663	T	C	100503663	3	2	158	1	0	0	0	0	1	0	0	0	7347	1725	60	3	1091	3	HPSE2	10	100503663	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10		100503663	35031084	55	9311											
HPSE2	60495	hgsc.bcm.edu	37	10	100992144	100992144	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr10:100992144C>G	ENST00000370552.3	-	2	468	c.409G>C	c.(409-411)Ggc>Cgc	p.G137R	HPSE2_ENST00000370546.1_Missense_Mutation_p.G137R|HPSE2_ENST00000404542.1_Missense_Mutation_p.G137R|HPSE2_ENST00000370549.1_Missense_Mutation_p.G137R	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	137					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		gggcccgggcccccgcggcTT	0.572																																																0													9	10	10					10																	100992144		2000	3885	5885	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.409G>C	10.37:g.100992144C>G	ENSP00000359583:p.Gly137Arg		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368129	0.42003	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.06	5.06	0.68205	Glycoside hydrolase, superfamily (1);	0.095726	0.43747	D	0.000531	T	0.52613	0.1745	L	0.54323	1.7	0.36302	D	0.857128	P;D;D;D	0.89917	0.835;0.996;1.0;0.994	P;D;D;P	0.97110	0.628;0.936;1.0;0.864	T	0.51663	-0.8677	10	0.10111	T	0.7	.	17.1956	0.86891	0.0:1.0:0.0:0.0	.	137;137;137;137	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	R	137	ENSP00000359583:G137R;ENSP00000359580:G137R;ENSP00000359577:G137R;ENSP00000384384:G137R	ENSP00000359577:G137R	G	-	1	0	HPSE2	100982134	1.000000	0.71417	0.998000	0.56505	0.157000	0.22087	6.793000	0.75130	2.357000	0.79964	0.655000	0.94253	GGC		0.572	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		G	100992144	C	G	100992144	3	3	158	1	0	0	0	0	1	0	0	0	7347	623	22	4	1451	4	HPSE2	10	100992144	Missense_Mutation	SNP	C	TCGA-B0-4841-01A-01D-1361-10	488481	100992144	34542603	56	9312											
C10orf2	56652	hgsc.bcm.edu	37	10	102748452	102748452	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr10:102748452T>G	ENST00000311916.2	+	1	670	c.485T>G	c.(484-486)aTa>aGa	p.I162R	MRPL43_ENST00000370236.1_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.I162R|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	162					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AACCGAGCAATACCTCTCTGG	0.562																																																0													148	167	161					10																	102748452		2203	4300	6503	SO:0001583	missense	56652			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.485T>G	10.37:g.102748452T>G	ENSP00000309595:p.Ile162Arg		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.682383	0.29872	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.95103	-3.28;-3.61	5.71	5.71	0.89125	.	0.569631	0.18005	N	0.154764	D	0.88735	0.6517	N	0.22421	0.69	0.40583	D	0.981418	B;P	0.35923	0.374;0.528	B;B	0.31614	0.132;0.133	D	0.87407	0.2373	10	0.20519	T	0.43	-14.6287	14.8057	0.69952	0.0:0.0:0.0:1.0	.	162;162	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	R	162	ENSP00000309595:I162R;ENSP00000359248:I162R	ENSP00000309595:I162R	I	+	2	0	C10orf2	102738442	1.000000	0.71417	0.867000	0.34043	0.617000	0.37484	4.713000	0.61895	2.180000	0.69256	0.379000	0.24179	ATA		0.562	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		G	102748452	T	G	102748452	3	3	158	1	0	0	0	0	1	0	0	0	1599	1406	49	5	487	5	C10orf2	10	102748452	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	1756308	102748452	32786295	57	9313											
DMBT1	1755	hgsc.bcm.edu	37	10	124340398	124340398	+	Silent	SNP	G	G	T	rs113864071		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr10:124340398G>T	ENST00000338354.3	+	11	1126	c.1020G>T	c.(1018-1020)ccG>ccT	p.P340P	DMBT1_ENST00000330163.4_Silent_p.P340P|DMBT1_ENST00000368909.3_Silent_p.P340P|DMBT1_ENST00000368955.3_Silent_p.P340P|DMBT1_ENST00000359586.6_Silent_p.P208P|DMBT1_ENST00000368956.2_Silent_p.P340P|DMBT1_ENST00000344338.3_Silent_p.P340P			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	340					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.P340P(4)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGTCCCGGCCGACACCCAGCC	0.537																																					Ovarian(182;93 2026 18125 22222 38972)											4	Substitution - coding silent(4)	endometrium(3)|central_nervous_system(1)											447	388	406					10																	124340398		1908	4111	6019	SO:0001819	synonymous_variant	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1020G>T	10.37:g.124340398G>T			A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37																																																																																					0.537	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		T	124340398	G	T	124340398	2	4	158	1	0	0	0	0	0	0	0	1	4579	1045	37	4		4	DMBT1	10	124340398	Silent	SNP	G	TCGA-B0-4841-01A-01D-1361-10	21591946	124340398	11194349	58	9314											
KRTAP5-1	387264	hgsc.bcm.edu	37	11	1606129	1606129	+	Silent	SNP	A	A	C	rs76191756	byFrequency	TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr11:1606129A>C	ENST00000382171.2	-	1	384	c.351T>G	c.(349-351)ggT>ggG	p.G117G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	117	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCACAGCCACCCTTGGATC	0.652													-|||	2697	0.538538	0.59	0.5173	5008	,	,		5828	0.4732		0.5626	False		,,,				2504	0.5266															0													38	53	48					11																	1606129		2072	4041	6113	SO:0001819	synonymous_variant	387264			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.351T>G	11.37:g.1606129A>C				Silent	SNP	ENST00000382171.2	37	CCDS31330.1																																																																																				0.652	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		C	1606129	A	C	1606129	2	2	158	1	0	0	0	0	0	0	0	1	8560	146	6	5		5	KRTAP5-1	11	1606129	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10		1606129	133400387	59	9315											
HBB	3043	hgsc.bcm.edu	37	11	5247865	5247865	+	Missense_Mutation	SNP	A	A	C	rs35693898		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr11:5247865A>C	ENST00000335295.4	-	2	306	c.257T>G	c.(256-258)tTt>tGt	p.F86C	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	86					bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAGTGTGGCAAAGGTGCCCTT	0.522									Sickle Cell Trait																																							0			GRCh37	CM034661	HBB	M	rs35693898						137	115	123					11																	5247865		2201	4298	6499	SO:0001583	missense	3043	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.257T>G	11.37:g.5247865A>C	ENSP00000333994:p.Phe86Cys		A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	a	16.08	3.021462	0.54576	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.93076	-3.16;-3.16	5.24	-2.04	0.07343	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.96027	0.8706	M	0.86864	2.845	0.39098	D	0.961229	D	0.53619	0.961	D	0.66602	0.945	D	0.95497	0.8574	9	0.87932	D	0	-0.9634	12.0533	0.53520	0.3821:0.0:0.0:0.6179	.	86	P68871	HBB_HUMAN	C	86	ENSP00000333994:F86C;ENSP00000369671:F86C	ENSP00000333994:F86C	F	-	2	0	HBB	5204441	0.372000	0.25064	0.990000	0.47175	0.432000	0.31715	0.808000	0.27154	-0.109000	0.12044	0.528000	0.53228	TTT		0.522	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		C	5247865	A	C	5247865	3	2	158	1	0	0	0	0	1	0	0	0	6980	14	1	5	194	5	HBB	11	5247865	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	3641736	5247865	129758651	60	9316											
IPO7	10527	hgsc.bcm.edu;ucsc.edu	37	11	9424852	9424852	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr11:9424852A>C	ENST00000379719.3	+	2	242	c.100A>C	c.(100-102)Aat>Cat	p.N34H	IPO7_ENST00000533680.1_3'UTR	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	34	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAAGTCTCTGAATTTTGTCTC	0.348																																																0													111	100	104					11																	9424852		2201	4296	6497	SO:0001583	missense	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.100A>C	11.37:g.9424852A>C	ENSP00000369042:p.Asn34His		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370726	0.42003	.	.	ENSG00000205339	ENST00000379719	T	0.68181	-0.31	4.97	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.130758	0.64402	D	0.000002	T	0.55257	0.1909	L	0.34521	1.04	0.39245	D	0.963934	B	0.06786	0.001	B	0.15870	0.014	T	0.57676	-0.7770	10	0.66056	D	0.02	.	11.0147	0.47682	0.8441:0.1559:0.0:0.0	.	34	O95373	IPO7_HUMAN	H	34	ENSP00000369042:N34H	ENSP00000369042:N34H	N	+	1	0	IPO7	9381428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.658000	0.68003	1.984000	0.57885	0.477000	0.44152	AAT		0.348	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		C	9424852	A	C	9424852	3	2	158	1	0	0	0	0	1	0	0	0	7799	246	9	5	106	5	IPO7	11	9424852	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	4176987	9424852	125581664	61	9317											
SAA1	6288	hgsc.bcm.edu;ucsc.edu	37	11	18288477	18288477	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr11:18288477G>A	ENST00000405158.2	+	2	227	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	SAA1_ENST00000356524.4_Missense_Mutation_p.G15S|SAA1_ENST00000532858.1_Missense_Mutation_p.G15S|RNA5SP334_ENST00000364825.1_RNA	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	15			G -> S (in dbSNP:rs712021).		acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CTTGGTCCTGGGTGTCAGCAG	0.522																																																0													147	131	137					11																	18288477		2198	4291	6489	SO:0001583	missense	6288			M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"Endogenous ligands"	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.43G>A	11.37:g.18288477G>A	ENSP00000384906:p.Gly15Ser		P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000405158.2	37	CCDS7835.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595633	0.28445	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.09350	2.99;2.99;2.99	3.67	1.72	0.24424	.	0.327305	0.27951	N	0.017200	T	0.15176	0.0366	M	0.89095	3.005	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.20240	-1.0281	10	0.42905	T	0.14	.	4.5268	0.11985	0.1163:0.0:0.6669:0.2169	.	15	P02735	SAA_HUMAN	S	15	ENSP00000348918:G15S;ENSP00000436866:G15S;ENSP00000384906:G15S	ENSP00000348918:G15S	G	+	1	0	SAA1	18245053	0.511000	0.26179	0.005000	0.12908	0.034000	0.12701	0.969000	0.29370	0.512000	0.28257	-0.366000	0.07423	GGT		0.522	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1	NM_199161		A	18288477	G	A	18288477	3	1	158	1	0	0	0	0	1	0	0	0	13804	1232	43	2	45	2	SAA1	11	18288477	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	8863625	18288477	116718039	62	9318											
RTN3	10313	hgsc.bcm.edu;ucsc.edu	37	11	63486909	63486909	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr11:63486909G>A	ENST00000377819.5	+	3	1089	c.935G>A	c.(934-936)aGt>aAt	p.S312N	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S293N|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S200N	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	312					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GCATTGCTCAGTAGGCAGTTT	0.413																																																0													89	89	89					11																	63486909		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.935G>A	11.37:g.63486909G>A	ENSP00000367050:p.Ser312Asn		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771269	0.31320	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.18502	2.21;2.21;2.21	5.98	1.6	0.23607	.	0.984266	0.08288	N	0.968838	T	0.08802	0.0218	N	0.14661	0.345	0.09310	N	0.999993	B;B;B	0.32467	0.372;0.255;0.372	B;B;B	0.24394	0.053;0.024;0.053	T	0.36915	-0.9728	10	0.14656	T	0.56	0.5334	9.686	0.40098	0.1766:0.3948:0.4286:0.0	.	200;312;293	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	N	312;293;200	ENSP00000367050:S312N;ENSP00000344106:S293N;ENSP00000442733:S200N	ENSP00000344106:S293N	S	+	2	0	RTN3	63243485	0.010000	0.17322	0.077000	0.20336	0.967000	0.64934	-0.079000	0.11357	0.017000	0.15025	-0.469000	0.05056	AGT		0.413	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		A	63486909	G	A	63486909	3	1	158	1	0	0	0	0	1	0	0	0	13733	1029	36	2	945	2	RTN3	11	63486909	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	45198432	63486909	71519607	63	9319											
TSGA10IP	254187	hgsc.bcm.edu;ucsc.edu	37	11	65715562	65715562	+	RNA	SNP	C	C	G	rs375846484		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr11:65715562C>G	ENST00000532620.1	+	0	1325				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						TACGATGAAACTTTCGTGTCT	0.562																																																0													37	36	36					11																	65715562		1948	4130	6078			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715562C>G			Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.562	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		G	65715562	C	G	65715562	1	3	158	0	1	0	0	0	0	0	0	0	16623	565	20	4		4	TSGA10IP	11	65715562	RNA	SNP	C	TCGA-B0-4841-01A-01D-1361-10	2228653	65715562	69290954	64	9320											
NOX4	50507	hgsc.bcm.edu	37	11	89059930	89059930	+	Missense_Mutation	SNP	G	G	C	rs202068631		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr11:89059930G>C	ENST00000263317.4	-	18	1969	c.1731C>G	c.(1729-1731)ttC>ttG	p.F577L	NOX4_ENST00000542487.1_Missense_Mutation_p.F553L|NOX4_ENST00000534731.1_Missense_Mutation_p.F537L|NOX4_ENST00000527956.1_Missense_Mutation_p.F553L|NOX4_ENST00000375979.3_Missense_Mutation_p.F270L|NOX4_ENST00000531342.1_Missense_Mutation_p.F230L|NOX4_ENST00000527626.1_Missense_Mutation_p.F390L|NOX4_ENST00000343727.5_Missense_Mutation_p.F553L|NOX4_ENST00000413594.2_Missense_Mutation_p.F598L|NOX4_ENST00000532825.1_Missense_Mutation_p.F513L|NOX4_ENST00000525196.1_Missense_Mutation_p.F341L|NOX4_ENST00000424319.1_Missense_Mutation_p.F553L|NOX4_ENST00000535633.1_Missense_Mutation_p.F553L|NOX4_ENST00000528341.1_Missense_Mutation_p.F552L			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	577					bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GTTTTCAGCTGAAAGACTCTT	0.378																																																0													90	91	91					11																	89059930		2201	4299	6500	SO:0001583	missense	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1731C>G	11.37:g.89059930G>C	ENSP00000263317:p.Phe577Leu		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697344	0.48202	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99186	-5.32;-5.32;-5.32;-5.51;-5.27;-5.31;-5.53;-5.32;-5.32;-5.04;-5.33;-5.48;-4.66;-4.35	3.93	3.93	0.45458	.	0.000000	0.85682	U	0.000000	D	0.99444	0.9803	M	0.93594	3.435	0.42659	D	0.993479	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.974;1.0;1.0;0.99	D;D;D;D;D;D;D;D	0.97110	0.997;0.998;0.997;0.996;0.953;0.999;1.0;0.92	D	0.98374	1.0555	9	.	.	.	-9.6418	16.3115	0.82873	0.0:0.0:1.0:0.0	.	513;390;552;341;230;270;537;577	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	L	553;553;553;537;341;577;513;553;553;390;552;598;230;270	ENSP00000412446:F553L;ENSP00000440172:F553L;ENSP00000344747:F553L;ENSP00000436892:F537L;ENSP00000436716:F341L;ENSP00000263317:F577L;ENSP00000434924:F513L;ENSP00000433797:F553L;ENSP00000439373:F553L;ENSP00000436093:F390L;ENSP00000436970:F552L;ENSP00000405705:F598L;ENSP00000435039:F230L;ENSP00000365146:F270L	.	F	-	3	2	NOX4	88699578	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	5.144000	0.64832	1.880000	0.54463	0.467000	0.42956	TTC		0.378	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		C	89059930	G	C	89059930	3	2	158	1	0	0	0	0	1	0	0	0	10560	1281	45	4	9	4	NOX4	11	89059930	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	23344368	89059930	45946586	65	9321											
MAP3K12	7786	hgsc.bcm.edu	37	12	53878111	53878111	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr12:53878111A>G	ENST00000267079.2	-	8	1304	c.1079T>C	c.(1078-1080)aTc>aCc	p.I360T	MAP3K12_ENST00000547488.1_Missense_Mutation_p.I393T|MAP3K12_ENST00000547035.1_Missense_Mutation_p.I393T|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ATGCAGCAGGATCTGTCGGAA	0.483																																																0													172	117	136					12																	53878111		2203	4300	6503	SO:0001583	missense	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1079T>C	12.37:g.53878111A>G	ENSP00000267079:p.Ile360Thr		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567490	0.65651	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.91124	-2.79;-2.79;-2.79	5.14	5.14	0.70334	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42821	D	0.000653	D	0.94205	0.8140	M	0.91249	3.19	0.80722	D	1	P;P	0.41597	0.712;0.756	P;P	0.48654	0.45;0.585	D	0.94462	0.7677	10	0.46703	T	0.11	.	14.2494	0.66009	1.0:0.0:0.0:0.0	.	393;360	G3V1Y2;Q12852	.;M3K12_HUMAN	T	360;393;393	ENSP00000267079:I360T;ENSP00000449038:I393T;ENSP00000448689:I393T	ENSP00000267079:I360T	I	-	2	0	MAP3K12	52164378	0.997000	0.39634	1.000000	0.80357	0.894000	0.52154	2.179000	0.42528	2.089000	0.63090	0.379000	0.24179	ATC		0.483	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		G	53878111	A	G	53878111	3	3	158	1	0	0	0	0	1	0	0	0	9248	333	12	3	1532	3	MAP3K12	12	53878111	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10		53878111	79973784	66	9322											
DNAJC14	85406	hgsc.bcm.edu	37	12	56221621	56221621	+	Silent	SNP	A	A	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr12:56221621A>G	ENST00000357606.3	-	3	1111	c.822T>C	c.(820-822)taT>taC	p.Y274Y	TMEM198B_ENST00000478241.1_RNA|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317269.3_Silent_p.Y274Y|DNAJC14_ENST00000317287.5_Silent_p.Y274Y			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	274					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GCCTGCAGGCATAGATGAGAT	0.517																																																0													96	80	85					12																	56221621		2203	4300	6503	SO:0001819	synonymous_variant	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.822T>C	12.37:g.56221621A>G			A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Silent	SNP	ENST00000357606.3	37	CCDS8894.1																																																																																				0.517	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		G	56221621	A	G	56221621	2	3	158	1	0	0	0	0	0	0	0	1	4635	224	8	3		3	DNAJC14	12	56221621	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10	2343510	56221621	77630274	67	9323											
ESYT1	23344	hgsc.bcm.edu	37	12	56524688	56524688	+	Silent	SNP	A	A	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr12:56524688A>T	ENST00000394048.5	+	3	810	c.546A>T	c.(544-546)acA>acT	p.T182T	ESYT1_ENST00000541590.1_Silent_p.T182T|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000267113.4_Silent_p.T182T	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	182	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TTACATTTACACGAGTGGAAC	0.532																																																0													55	58	57					12																	56524688		2203	4300	6503	SO:0001819	synonymous_variant	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.546A>T	12.37:g.56524688A>T			A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	CCDS8904.1																																																																																				0.532	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		T	56524688	A	T	56524688	2	4	158	1	0	0	0	0	0	0	0	1	5266	146	6	5		5	ESYT1	12	56524688	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10	303067	56524688	77327207	68	9324											
CHFR	55743	hgsc.bcm.edu	37	12	133454224	133454224	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr12:133454224G>C	ENST00000432561.2	-	3	223	c.150C>G	c.(148-150)ttC>ttG	p.F50L	CHFR_ENST00000450056.2_Missense_Mutation_p.F50L|CHFR_ENST00000266880.7_Missense_Mutation_p.F50L|CHFR_ENST00000443047.2_Missense_Mutation_p.F50L|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Missense_Mutation_p.F50L			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	50	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TATTGCTGGGGAAGGAAAGGT	0.448																																																0													111	100	104					12																	133454224		2203	4300	6503	SO:0001583	missense	55743			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.150C>G	12.37:g.133454224G>C	ENSP00000392395:p.Phe50Leu		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163506	0.57476	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000432561;ENST00000540963	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.27	-1.03	0.10102	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.111524	0.64402	D	0.000008	T	0.57946	0.2088	N	0.02916	-0.46	0.50467	D	0.999872	B;P;P;P;B	0.49696	0.354;0.91;0.927;0.91;0.04	B;B;B;B;B	0.42827	0.057;0.278;0.399;0.278;0.019	T	0.54576	-0.8273	10	0.36615	T	0.2	-19.7452	6.3548	0.21395	0.3888:0.0:0.502:0.1092	.	50;50;50;50;50	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	L	50	ENSP00000320557:F50L;ENSP00000416431:F50L;ENSP00000398735:F50L;ENSP00000266880:F50L;ENSP00000392395:F50L;ENSP00000441837:F50L	ENSP00000266880:F50L	F	-	3	2	CHFR	131964297	0.947000	0.32204	0.356000	0.25785	0.885000	0.51271	0.015000	0.13355	-0.231000	0.09825	0.558000	0.71614	TTC		0.448	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			C	133454224	G	C	133454224	3	2	158	1	0	0	0	0	1	0	0	0	3339	1165	41	4	2005	4	CHFR	12	133454224	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	76929536	133454224	397671	69	9325											
PDS5B	23047	hgsc.bcm.edu	37	13	33281137	33281137	+	Silent	SNP	A	A	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr13:33281137A>T	ENST00000315596.10	+	18	2109	c.1923A>T	c.(1921-1923)ccA>ccT	p.P641P		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	641					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGGGTGTTCCAACTGATCAAG	0.313																																																0													110	107	108					13																	33281137		1882	4111	5993	SO:0001819	synonymous_variant	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1923A>T	13.37:g.33281137A>T			Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	CCDS41878.1																																																																																				0.313	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		T	33281137	A	T	33281137	2	4	158	1	0	0	0	0	0	0	0	1	11694	117	5	5		5	PDS5B	13	33281137	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10		33281137	81888741	70	9326											
GMFB	2764	hgsc.bcm.edu;ucsc.edu	37	14	54948885	54948885	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr14:54948885C>T	ENST00000358056.3	-	3	404	c.136G>A	c.(136-138)Gat>Aat	p.D46N	GMFB_ENST00000554908.1_Intron|GMFB_ENST00000553566.1_5'UTR	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	46	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of protein kinase activity (GO:0006469)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						AGCTCCTCATCCAGTACCACC	0.338																																																0													98	98	98					14																	54948885		2203	4300	6503	SO:0001583	missense	2764			M86492	CCDS9718.1	14q22.2	2010-07-06			ENSG00000197045	ENSG00000197045			4373	protein-coding gene	gene with protein product		601713				1712830	Standard	NM_004124		Approved	GMF	uc021rtf.1	P60983	OTTHUMG00000140307	ENST00000358056.3:c.136G>A	14.37:g.54948885C>T	ENSP00000350757:p.Asp46Asn		B2R499|P17774|Q9BS35	Missense_Mutation	SNP	ENST00000358056.3	37	CCDS9718.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915517	0.73098	.	.	ENSG00000197045	ENST00000358056;ENST00000354747;ENST00000553333	T;T	0.36520	1.25;1.25	5.12	5.12	0.69794	Actin-binding, cofilin/tropomyosin type (3);	0.051150	0.85682	D	0.000000	T	0.58509	0.2127	M	0.79258	2.445	0.58432	D	0.999996	B	0.23185	0.081	P	0.46144	0.505	T	0.62431	-0.6856	10	0.72032	D	0.01	.	17.1054	0.86662	0.0:1.0:0.0:0.0	.	46	P60983	GMFB_HUMAN	N	46;46;58	ENSP00000350757:D46N;ENSP00000451920:D58N	ENSP00000346789:D46N	D	-	1	0	GMFB	54018635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.327000	0.72910	2.534000	0.85438	0.585000	0.79938	GAT		0.338	GMFB-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276903.2	NM_004124		T	54948885	C	T	54948885	3	4	158	1	0	0	0	0	1	0	0	0	6491	855	30	2	312	2	GMFB	14	54948885	Missense_Mutation	SNP	C	TCGA-B0-4841-01A-01D-1361-10		54948885	52400655	71	9327											
DACT1	51339	hgsc.bcm.edu	37	14	59113726	59113726	+	Silent	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr14:59113726G>A	ENST00000335867.4	+	4	2409	c.2385G>A	c.(2383-2385)acG>acA	p.T795T	DACT1_ENST00000395153.3_Silent_p.T758T|DACT1_ENST00000556859.1_Silent_p.T514T|DACT1_ENST00000541264.2_Silent_p.T514T			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	795					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCATTCAAACGGTAACGGCCC	0.537																																																0													99	103	102					14																	59113726		2203	4300	6503	SO:0001819	synonymous_variant	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2385G>A	14.37:g.59113726G>A			A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	CCDS9736.1																																																																																				0.537	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		A	59113726	G	A	59113726	2	1	158	1	0	0	0	0	0	0	0	1	4224	1103	39	1		1	DACT1	14	59113726	Silent	SNP	G	TCGA-B0-4841-01A-01D-1361-10	4164841	59113726	48235814	72	9328											
ZBTB1	22890	hgsc.bcm.edu;ucsc.edu	37	14	64990159	64990159	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr14:64990159A>C	ENST00000554015.1	+	4	2368	c.1937A>C	c.(1936-1938)aAa>aCa	p.K646T	ZBTB1_ENST00000358738.3_Intron|ZBTB1_ENST00000394712.2_Missense_Mutation_p.K646T|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	646					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AACTTCAGAAAACATGACCAT	0.418																																																0													97	90	92					14																	64990159		2193	4297	6490	SO:0001583	missense	22890			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1937A>C	14.37:g.64990159A>C	ENSP00000451000:p.Lys646Thr		A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.766843	0.49574	.	.	ENSG00000126804	ENST00000554015;ENST00000394712	T;T	0.30448	1.53;1.53	5.47	4.3	0.51218	Zinc finger, C2H2-like (1);	2.253660	0.05066	U	0.480806	T	0.39600	0.1084	M	0.71036	2.16	0.50813	D	0.999894	P	0.44627	0.839	B	0.40444	0.329	T	0.11690	-1.0577	9	.	.	.	-17.7762	11.7189	0.51670	0.8676:0.0:0.0:0.1324	.	646	Q9Y2K1	ZBTB1_HUMAN	T	646	ENSP00000451000:K646T;ENSP00000378201:K646T	.	K	+	2	0	ZBTB1	64059912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.919000	0.92770	0.884000	0.36064	0.529000	0.55759	AAA		0.418	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			C	64990159	A	C	64990159	3	2	158	1	0	0	0	0	1	0	0	0	17527	14	1	5	1939	5	ZBTB1	14	64990159	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	5876433	64990159	42359381	73	9329											
NUMB	8650	hgsc.bcm.edu;ucsc.edu	37	14	73822411	73822411	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr14:73822411G>C	ENST00000355058.3	-	4	327	c.49C>G	c.(49-51)Cca>Gca	p.P17A	NUMB_ENST00000559312.1_Missense_Mutation_p.P17A|NUMB_ENST00000454166.4_Missense_Mutation_p.P17A|NUMB_ENST00000555738.2_Missense_Mutation_p.P17A|NUMB_ENST00000555394.1_Missense_Mutation_p.P17A|NUMB_ENST00000554521.2_Missense_Mutation_p.P17A|NUMB_ENST00000560335.1_Missense_Mutation_p.P17A|NUMB_ENST00000555238.1_Missense_Mutation_p.P17A|NUMB_ENST00000356296.4_Missense_Mutation_p.P17A|NUMB_ENST00000554546.1_Missense_Mutation_p.P17A|NUMB_ENST00000359560.3_Missense_Mutation_p.P17A|NUMB_ENST00000535282.1_Missense_Mutation_p.P17A|NUMB_ENST00000544991.3_Missense_Mutation_p.P17A|NUMB_ENST00000557597.1_Missense_Mutation_p.P17A			P49757	NUMB_HUMAN	numb homolog (Drosophila)	17					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CTGGCCTCTGGAACATAAACA	0.383																																																0													106	102	103					14																	73822411		2203	4300	6503	SO:0001583	missense	8650			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.49C>G	14.37:g.73822411G>C	ENSP00000347169:p.Pro17Ala		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	ENST00000355058.3	37	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513700	0.85389	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282;ENST00000326018;ENST00000555859;ENST00000555307;ENST00000554394;ENST00000555987;ENST00000554818	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62105	0.05;2.44;0.59;2.44;2.44;0.59;2.44;2.44;2.44;0.44;0.33;0.59;2.44;2.44;2.44;2.44;2.44	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.69823	2.125	0.80722	D	1	B;D;P;P;P;P;B;D;D;B;P	0.89917	0.23;0.999;0.768;0.533;0.911;0.768;0.434;1.0;0.998;0.383;0.897	B;D;P;B;P;B;B;D;D;B;P	0.91635	0.168;0.994;0.517;0.206;0.646;0.347;0.417;0.999;0.959;0.348;0.764	T	0.78481	-0.2187	10	0.49607	T	0.09	-7.9348	19.4279	0.94751	0.0:0.0:1.0:0.0	.	17;17;17;17;17;17;17;17;17;17;17	B1P2N6;B1P2N5;B1P2N8;B1P2N7;G3V3R1;Q86SW5;B2RCI6;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;.;.;NUMB_HUMAN	A	17	ENSP00000452416:P17A;ENSP00000348644:P17A;ENSP00000451117:P17A;ENSP00000451300:P17A;ENSP00000347169:P17A;ENSP00000352563:P17A;ENSP00000451625:P17A;ENSP00000446001:P17A;ENSP00000394025:P17A;ENSP00000452069:P17A;ENSP00000450817:P17A;ENSP00000441258:P17A;ENSP00000451326:P17A;ENSP00000452357:P17A;ENSP00000451374:P17A;ENSP00000451559:P17A;ENSP00000451959:P17A	ENSP00000315193:P17A	P	-	1	0	NUMB	72892164	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.581000	0.98210	2.824000	0.97209	0.655000	0.94253	CCA		0.383	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			C	73822411	G	C	73822411	3	2	158	1	0	0	0	0	1	0	0	0	10753	1174	41	4	1946	4	NUMB	14	73822411	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	8832252	73822411	33527129	74	9330											
INO80	54617	hgsc.bcm.edu	37	15	41280146	41280146	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr15:41280146G>T	ENST00000361937.3	-	30	4021	c.3597C>A	c.(3595-3597)aaC>aaA	p.N1199K	INO80_ENST00000401393.3_Missense_Mutation_p.N1199K|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1199	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCACAGTGGGGTTCCAGTCGC	0.498																																																0													119	120	119					15																	41280146		2203	4300	6503	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3597C>A	15.37:g.41280146G>T	ENSP00000355205:p.Asn1199Lys		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330843	0.81690	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	T;T	0.80393	-1.37;-1.37	5.23	5.23	0.72850	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95287	0.8391	10	0.87932	D	0	.	13.3063	0.60355	0.0753:0.0:0.9247:0.0	.	1199	Q9ULG1	INO80_HUMAN	K	1199	ENSP00000355205:N1199K;ENSP00000384686:N1199K	ENSP00000355205:N1199K	N	-	3	2	INO80	39067438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.136000	0.50554	2.725000	0.93324	0.460000	0.39030	AAC		0.498	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		T	41280146	G	T	41280146	3	4	158	1	0	0	0	0	1	0	0	0	7748	1252	44	4	1101	4	INO80	15	41280146	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10		41280146	61251246	75	9331											
PKM2	5315	hgsc.bcm.edu	37	15	72495427	72495427	+	Intron	SNP	C	C	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr15:72495427C>G	ENST00000335181.5	-	9	1244				PKM_ENST00000568883.1_Missense_Mutation_p.G250R|PKM_ENST00000565184.1_Missense_Mutation_p.G415R|PKM_ENST00000565154.1_Missense_Mutation_p.G415R|PKM_ENST00000319622.6_Missense_Mutation_p.G415R|PKM_ENST00000568459.1_Missense_Mutation_p.G415R|PKM_ENST00000449901.2_Intron|PKM_ENST00000389093.3_Missense_Mutation_p.G415R	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	TCCACGCTGCCCATGGCCATG	0.532																																																0													80	76	78					15																	72495427		2199	4297	6496	SO:0001627	intron_variant	0			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1141-466G>C	15.37:g.72495427C>G			A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013271	0.93346	.	.	ENSG00000067225	ENST00000319622;ENST00000327974;ENST00000389093	D;D	0.99023	-5.34;-5.34	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.99521	0.9829	M	0.93420	3.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.996;0.987;0.995	D	0.98421	1.0577	10	0.87932	D	0	-20.8517	19.9421	0.97168	0.0:1.0:0.0:0.0	.	395;395;415;250;250	B4DRT3;E7EUQ8;P14618-2;Q504U3;E7EUJ4	.;.;.;.;.	R	415;250;415	ENSP00000320171:G415R;ENSP00000373745:G415R	ENSP00000320171:G415R	G	-	1	0	PKM2	70282481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.714000	0.92807	0.561000	0.74099	GGC		0.532	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			G	72495427	C	G	72495427	1	3	158	0	1	0	0	0	0	0	0	0	11979	623	22	4		4	PKM2	15	72495427	Intron	SNP	C	TCGA-B0-4841-01A-01D-1361-10	31215281	72495427	30035965	76	9332											
PRSS22	64063	hgsc.bcm.edu	37	16	2905796	2905796	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr16:2905796T>G	ENST00000161006.3	-	4	403	c.338A>C	c.(337-339)aAc>aCc	p.N113T	PRSS22_ENST00000571228.1_Intron|PRSS22_ENST00000574768.1_5'UTR|LA16c-325D7.1_ENST00000577140.1_RNA	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	113	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGAGCCAGGGTTCCCCAGCTG	0.617																																																0													37	39	39					16																	2905796		2198	4300	6498	SO:0001583	missense	64063			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"Serine peptidases / Serine peptidases"	14368	protein-coding gene	gene with protein product	"brain-specific serine protease 4"	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.338A>C	16.37:g.2905796T>G	ENSP00000161006:p.Asn113Thr		O43342|Q6UXE0	Missense_Mutation	SNP	ENST00000161006.3	37	CCDS10481.1	.	.	.	.	.	.	.	.	.	.	t	0.150	-1.092519	0.01858	.	.	ENSG00000005001	ENST00000161006	D	0.88664	-2.41	4.62	-4.24	0.03777	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.877553	0.09845	N	0.748328	T	0.73830	0.3637	N	0.17564	0.495	0.37158	D	0.902489	B	0.14012	0.009	B	0.17722	0.019	T	0.55736	-0.8094	10	0.15952	T	0.53	.	5.3188	0.15870	0.0:0.3579:0.2964:0.3457	.	113	Q9GZN4	BSSP4_HUMAN	T	113	ENSP00000161006:N113T	ENSP00000161006:N113T	N	-	2	0	PRSS22	2845797	0.104000	0.21937	0.518000	0.27811	0.906000	0.53458	0.333000	0.19768	-0.548000	0.06199	-0.451000	0.05528	AAC		0.617	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		G	2905796	T	G	2905796	3	3	158	1	0	0	0	0	1	0	0	0	12624	1725	60	5	627	5	PRSS22	16	2905796	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10		2905796	87448957	77	9333											
ATP2A1	487	hgsc.bcm.edu	37	16	28913193	28913193	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr16:28913193G>T	ENST00000357084.3	+	16	2377	c.2110G>T	c.(2110-2112)Ggc>Tgc	p.G704C	ATP2A1_ENST00000395503.4_Missense_Mutation_p.G704C|ATP2A1_ENST00000536376.1_Missense_Mutation_p.G579C	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	704					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.G704C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GACAGGTGATGGCGTCAATGA	0.537																																																1	Substitution - Missense(1)	ovary(1)											47	40	43					16																	28913193		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2110G>T	16.37:g.28913193G>T	ENSP00000349595:p.Gly704Cys		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994955	0.54041	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99515	-6.06;-6.06;-6.06	5.27	4.31	0.51392	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.99783	4.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96743	0.9548	10	0.87932	D	0	.	12.9867	0.58596	0.0803:0.0:0.9197:0.0	.	579;704;704	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	C	704;704;741;579	ENSP00000349595:G704C;ENSP00000378879:G704C;ENSP00000443101:G579C	ENSP00000349595:G704C	G	+	1	0	ATP2A1	28820694	1.000000	0.71417	0.709000	0.30452	0.348000	0.29142	9.761000	0.98940	1.216000	0.43427	0.561000	0.74099	GGC		0.537	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		T	28913193	G	T	28913193	3	4	158	1	0	0	0	0	1	0	0	0	1136	1348	47	4	2172	4	ATP2A1	16	28913193	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	26007397	28913193	61441560	78	9334											
TBX6	6911	hgsc.bcm.edu;ucsc.edu	37	16	30097589	30097589	+	Missense_Mutation	SNP	G	G	T	rs201930048		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr16:30097589G>T	ENST00000395224.2	-	9	1327	c.1268C>A	c.(1267-1269)gCg>gAg	p.A423E	TBX6_ENST00000279386.2_Missense_Mutation_p.A423E	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	423					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GCCCCCAGGCGCGGTGTATGG	0.672																																																0													40	46	44					16																	30097589		2197	4300	6497	SO:0001583	missense	6911			AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"T-boxes"	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.1268C>A	16.37:g.30097589G>T	ENSP00000378650:p.Ala423Glu		Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	G	5.877	0.345911	0.11126	.	.	ENSG00000149922	ENST00000395224;ENST00000279386	D;D	0.86627	-2.15;-2.15	4.69	1.43	0.22495	.	1.793530	0.03144	N	0.167025	T	0.78407	0.4278	N	0.14661	0.345	0.09310	N	1	B	0.26975	0.165	B	0.21546	0.035	T	0.66528	-0.5901	10	0.44086	T	0.13	.	9.3975	0.38412	0.1386:0.5569:0.3046:0.0	.	423	O95947	TBX6_HUMAN	E	423	ENSP00000378650:A423E;ENSP00000279386:A423E	ENSP00000279386:A423E	A	-	2	0	TBX6	30005090	0.026000	0.19158	0.682000	0.30024	0.092000	0.18411	0.782000	0.26788	0.595000	0.29777	-1.295000	0.01343	GCG		0.672	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		T	30097589	G	T	30097589	3	4	158	1	0	0	0	0	1	0	0	0	15667	1087	38	4	46	4	TBX6	16	30097589	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	1184396	30097589	60257164	79	9335											
ZNF646	9726	hgsc.bcm.edu	37	16	31089315	31089315	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr16:31089315A>C	ENST00000394979.2	+	1	2093	c.1670A>C	c.(1669-1671)aAa>aCa	p.K557T	ZNF646_ENST00000300850.5_Missense_Mutation_p.K557T			O15015	ZN646_HUMAN	zinc finger protein 646	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CATGTGTGCAAACATGAAGAA	0.587																																																0													67	70	69					16																	31089315		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1670A>C	16.37:g.31089315A>C	ENSP00000378429:p.Lys557Thr		Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	A	4.535	0.099368	0.08681	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.09073	3.02;3.04	4.49	-0.556	0.11803	.	.	.	.	.	T	0.05135	0.0137	L	0.27053	0.805	0.20926	N	0.99982	B	0.23806	0.091	B	0.22386	0.039	T	0.44817	-0.9303	9	0.23302	T	0.38	-12.2414	5.2411	0.15471	0.6162:0.1412:0.2426:0.0	.	557	O15015-2	.	T	557	ENSP00000300850:K557T;ENSP00000378429:K557T	ENSP00000300850:K557T	K	+	2	0	ZNF646	30996816	0.000000	0.05858	0.078000	0.20375	0.321000	0.28281	-0.814000	0.04486	-0.211000	0.10124	0.533000	0.62120	AAA		0.587	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		C	31089315	A	C	31089315	3	2	158	1	0	0	0	0	1	0	0	0	18067	14	1	5	1672	5	ZNF646	16	31089315	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	991726	31089315	59265438	80	9336											
MYH4	4622	hgsc.bcm.edu;ucsc.edu	37	17	10353952	10353952	+	Silent	SNP	C	C	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr17:10353952C>T	ENST00000255381.2	-	30	4109	c.3999G>A	c.(3997-3999)ctG>ctA	p.L1333L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1333					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGCATGGGCCAGAGTGCTCT	0.488																																																0													84	73	77					17																	10353952		2203	4300	6503	SO:0001819	synonymous_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3999G>A	17.37:g.10353952C>T				Silent	SNP	ENST00000255381.2	37	CCDS11154.1																																																																																				0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		T	10353952	C	T	10353952	2	4	158	1	0	0	0	0	0	0	0	1	10039	581	21	2		2	MYH4	17	10353952	Silent	SNP	C	TCGA-B0-4841-01A-01D-1361-10		10353952	70841258	81	9337											
TRIM16	10626	hgsc.bcm.edu	37	17	15539426	15539426	+	Missense_Mutation	SNP	C	C	T	rs200176122		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr17:15539426C>T	ENST00000578237.1	-	8	1628	c.773G>A	c.(772-774)aGg>aAg	p.R258K	TRIM16_ENST00000581224.1_5'Flank|TRIM16_ENST00000577886.1_Missense_Mutation_p.R42K|TRIM16_ENST00000336708.7_Missense_Mutation_p.R258K|TRIM16_ENST00000416464.2_Missense_Mutation_p.R128K|TRIM16_ENST00000579219.1_Missense_Mutation_p.R42K|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.R258K			O95361	TRI16_HUMAN	tripartite motif containing 16	258					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CTCGGCACTCCTGTACTCCAG	0.597																																																0													127	103	111					17																	15539426		2188	4298	6486	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.773G>A	17.37:g.15539426C>T	ENSP00000463188:p.Arg258Lys		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	CCDS11171.1	28|28	0.01282051282051282|0.01282051282051282	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	24|24	0.0316622691292876|0.0316622691292876	c|c	11.63|11.63	1.694498|1.694498	0.30052|0.30052	.|.	.|.	ENSG00000251537|ENSG00000221926	ENST00000455584|ENST00000336708;ENST00000416464	.|T;T	.|0.65916	.|0.11;-0.18	3.97|3.97	3.0|3.0	0.34707|0.34707	.|.	.|0.204791	.|0.37053	.|U	.|0.002275	T|T	0.17195|0.17195	0.0413|0.0413	L|L	0.27053|0.27053	0.805|0.805	0.25712|0.25712	N|N	0.985473|0.985473	.|B;B;B	.|0.29805	.|0.257;0.072;0.023	.|B;B;B	.|0.23574	.|0.043;0.047;0.028	T|T	0.02646|0.02646	-1.1129|-1.1129	5|10	.|0.20519	.|T	.|0.43	.|.	5.3947|5.3947	0.16263|0.16263	0.0:0.7753:0.0:0.2247|0.0:0.7753:0.0:0.2247	.|.	.|128;258;272	.|B3KP96;O95361;Q59EB2	.|.;TRI16_HUMAN;.	R|K	273|258;128	.|ENSP00000338989:R258K;ENSP00000399918:R128K	.|ENSP00000338989:R258K	G|R	-|-	1|2	0|0	RP11-385D13.1|TRIM16	15480151|15480151	0.991000|0.991000	0.36638|0.36638	0.941000|0.941000	0.38009|0.38009	0.717000|0.717000	0.41224|0.41224	1.626000|1.626000	0.37039|0.37039	2.230000|2.230000	0.72887|0.72887	0.555000|0.555000	0.69702|0.69702	GGA|AGG		0.597	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		T	15539426	C	T	15539426	3	4	158	1	0	0	0	0	1	0	0	0	16496	681	24	2	937	2	TRIM16	17	15539426	Missense_Mutation	SNP	C	TCGA-B0-4841-01A-01D-1361-10	5185474	15539426	65655784	82	9338											
KIAA0100	9703	hgsc.bcm.edu;ucsc.edu	37	17	26966630	26966630	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr17:26966630C>T	ENST00000528896.2	-	10	1120	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R206H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R206H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	349						extracellular region (GO:0005576)		p.R349H(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCAGACAATGCGTTGGCGACT	0.493																																																1	Substitution - Missense(1)	endometrium(1)											144	126	132					17																	26966630		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1046G>A	17.37:g.26966630C>T	ENSP00000436773:p.Arg349His		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370112	0.95900	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.33865	1.66;1.39	5.78	5.78	0.91487	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.50659	-0.8802	10	0.56958	D	0.05	.	20.0119	0.97458	0.0:1.0:0.0:0.0	.	349;349	F6XS94;Q14667	.;K0100_HUMAN	H	349;349;349;206	ENSP00000436773:R349H;ENSP00000446443:R206H	ENSP00000005905:R349H	R	-	2	0	KIAA0100	23990757	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.181000	0.77682	2.733000	0.93635	0.591000	0.81541	CGC		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		T	26966630	C	T	26966630	3	4	158	1	0	0	0	0	1	0	0	0	8156	768	27	1	5781	1	KIAA0100	17	26966630	Missense_Mutation	SNP	C	TCGA-B0-4841-01A-01D-1361-10	11427204	26966630	54228580	83	9339											
CCL2	6347	hgsc.bcm.edu	37	17	32583304	32583304	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr17:32583304G>C	ENST00000225831.4	+	2	205	c.140G>C	c.(139-141)aGg>aCg	p.R47T	AC005549.3_ENST00000601918.1_5'Flank|CCL2_ENST00000580907.1_Missense_Mutation_p.R47T	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	47		Involved in GAG binding and receptor binding.			activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	TCAGTGCAGAGGCTCGCGAGC	0.453																																																0													85	87	86					17																	32583304		2203	4300	6503	SO:0001583	missense	6347			BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"Chemokine ligands", "Endogenous ligands"	10618	protein-coding gene	gene with protein product	"monocyte chemotactic protein 1, homologous to mouse Sig-je", "monocyte chemoattractant protein-1", "monocyte chemotactic and activating factor", "monocyte secretory protein JE", "small inducible cytokine subfamily A (Cys-Cys), member 2"	158105	"small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.140G>C	17.37:g.32583304G>C	ENSP00000225831:p.Arg47Thr		B2R4V3|Q9UDF3	Missense_Mutation	SNP	ENST00000225831.4	37	CCDS11277.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281191	0.59758	.	.	ENSG00000108691	ENST00000225831	T	0.04917	3.53	4.61	-1.17	0.09648	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.611961	0.15402	N	0.264231	T	0.12689	0.0308	.	.	.	0.20821	N	0.999843	D	0.57571	0.98	P	0.62740	0.906	T	0.10314	-1.0635	9	0.54805	T	0.06	.	3.4349	0.07442	0.397:0.0:0.4272:0.1758	.	47	P13500	CCL2_HUMAN	T	47	ENSP00000225831:R47T	ENSP00000225831:R47T	R	+	2	0	CCL2	29607417	0.723000	0.28027	0.134000	0.22075	0.395000	0.30598	0.015000	0.13355	0.034000	0.15491	0.491000	0.48974	AGG		0.453	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256384.2	NM_002982		C	32583304	G	C	32583304	3	2	158	1	0	0	0	0	1	0	0	0	2893	1000	35	4	146	4	CCL2	17	32583304	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	5616674	32583304	48611906	84	9340											
AP2B1	163	hgsc.bcm.edu	37	17	33951514	33951514	+	Silent	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr17:33951514G>A	ENST00000262325.7	+	6	1177	c.624G>A	c.(622-624)ctG>ctA	p.L208L	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Silent_p.L208L|AP2B1_ENST00000592545.1_Silent_p.L170L|AP2B1_ENST00000538556.1_Silent_p.L151L|AP2B1_ENST00000537622.2_Silent_p.L208L|AP2B1_ENST00000589344.1_Silent_p.L208L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	208					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATAAGCTGCTGACAGCCCTGA	0.473																																																0													107	92	97					17																	33951514		2203	4300	6503	SO:0001819	synonymous_variant	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.624G>A	17.37:g.33951514G>A			A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	CCDS32622.1																																																																																				0.473	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			A	33951514	G	A	33951514	2	1	158	1	0	0	0	0	0	0	0	1	741	1277	45	2		2	AP2B1	17	33951514	Silent	SNP	G	TCGA-B0-4841-01A-01D-1361-10	1368210	33951514	47243696	85	9341											
MPO	4353	hgsc.bcm.edu	37	17	56351014	56351014	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr17:56351014T>C	ENST00000225275.3	-	9	1558	c.1382A>G	c.(1381-1383)gAc>gGc	p.D461G	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.D493G	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	461					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GGGCAGGTAGTCCCGGTAAGT	0.582																																																0													178	144	155					17																	56351014		2203	4300	6503	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1382A>G	17.37:g.56351014T>C	ENSP00000225275:p.Asp461Gly		A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369087	0.82463	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.74106	-0.81;-0.81	4.38	4.38	0.52667	.	0.165679	0.52532	D	0.000075	D	0.88713	0.6511	M	0.93638	3.44	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.91373	0.5121	10	0.87932	D	0	-38.4701	12.9585	0.58444	0.0:0.0:0.0:1.0	.	461	P05164	PERM_HUMAN	G	493;461	ENSP00000344419:D493G;ENSP00000225275:D461G	ENSP00000225275:D461G	D	-	2	0	MPO	53706013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.847000	0.86896	1.850000	0.53721	0.459000	0.35465	GAC		0.582	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			C	56351014	T	C	56351014	3	2	158	1	0	0	0	0	1	0	0	0	9734	1667	58	3	871	3	MPO	17	56351014	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	22399500	56351014	24844196	86	9342											
METTL2A	339175	hgsc.bcm.edu	37	17	60501288	60501288	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr17:60501288G>T	ENST00000311506.5	+	1	61	c.25G>T	c.(25-27)Gca>Tca	p.A9S		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	9					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CCCTGAAGGTGCACCTGCAGT	0.592											OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													58	67	65					17																	60501288		692	1591	2283	SO:0001583	missense	339175			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.25G>T	17.37:g.60501288G>T	ENSP00000309610:p.Ala9Ser	1046	A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	ENST00000311506.5	37	CCDS45752.1	.	.	.	.	.	.	.	.	.	.	G	9.444	1.088760	0.20390	.	.	ENSG00000087995	ENST00000311506;ENST00000333483	T	0.11821	2.74	5.18	1.94	0.25998	.	1.732920	0.03290	N	0.187404	T	0.08223	0.0205	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32375	-0.9909	10	0.09338	T	0.73	-3.5118	4.4506	0.11619	0.0846:0.154:0.6018:0.1595	.	9	Q96IZ6	MTL2A_HUMAN	S	9	ENSP00000309610:A9S	ENSP00000309610:A9S	A	+	1	0	METTL2A	57855020	0.036000	0.19791	0.000000	0.03702	0.007000	0.05969	1.392000	0.34486	0.155000	0.19261	0.555000	0.69702	GCA		0.592	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		T	60501288	G	T	60501288	3	4	158	1	0	0	0	0	1	0	0	0	9501	1319	46	4	27	4	METTL2A	17	60501288	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	4150274	60501288	20693922	87	9343											
ASXL3	80816	hgsc.bcm.edu;ucsc.edu	37	18	31319454	31319454	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr18:31319454T>G	ENST00000269197.5	+	11	2086	c.2086T>G	c.(2086-2088)Tcc>Gcc	p.S696A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	696	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCTCTTATGTCCAACTTACC	0.373																																																0													182	175	177					18																	31319454		1917	4134	6051	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2086T>G	18.37:g.31319454T>G	ENSP00000269197:p.Ser696Ala		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495153	0.64186	.	.	ENSG00000141431	ENST00000269197	T	0.22134	1.97	5.91	5.91	0.95273	.	0.949808	0.08876	N	0.880841	T	0.49830	0.1580	M	0.71036	2.16	0.42590	D	0.993241	D	0.64830	0.994	D	0.72625	0.978	T	0.10428	-1.0630	10	0.45353	T	0.12	.	16.3432	0.83101	0.0:0.0:0.0:1.0	.	696	Q9C0F0	ASXL3_HUMAN	A	696	ENSP00000269197:S696A	ENSP00000269197:S696A	S	+	1	0	ASXL3	29573452	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.252000	0.65445	2.263000	0.75096	0.377000	0.23210	TCC		0.373	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			G	31319454	T	G	31319454	3	3	158	1	0	0	0	0	1	0	0	0	1068	1667	58	5	2128	5	ASXL3	18	31319454	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10		31319454	46757794	88	9344											
SERPINB7	8710	hgsc.bcm.edu	37	18	61471602	61471602	+	Silent	SNP	A	A	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr18:61471602A>G	ENST00000398019.2	+	8	1201	c.876A>G	c.(874-876)agA>agG	p.R292R	SERPINB7_ENST00000336429.2_Silent_p.R292R|SERPINB7_ENST00000546027.1_Silent_p.R292R|SERPINB7_ENST00000540675.1_Silent_p.R275R	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	292					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AATATTTGAGAGCCCTAGGGC	0.398																																																0													50	53	52					18																	61471602		2203	4300	6503	SO:0001819	synonymous_variant	8710			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.876A>G	18.37:g.61471602A>G			B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	CCDS11988.1																																																																																				0.398	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		G	61471602	A	G	61471602	2	3	158	1	0	0	0	0	0	0	0	1	14112	301	11	3		3	SERPINB7	18	61471602	Silent	SNP	A	TCGA-B0-4841-01A-01D-1361-10	30152148	61471602	16605646	89	9345											
ZNF823	55552	hgsc.bcm.edu;ucsc.edu	37	19	11833073	11833073	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr19:11833073T>A	ENST00000341191.6	-	4	1429	c.1276A>T	c.(1276-1278)Agt>Tgt	p.S426C	ZNF823_ENST00000545749.1_Missense_Mutation_p.S244C	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CCGGCAAGACTGAAGGCTTTA	0.433										HNSCC(68;0.2)																																						0													64	71	69					19																	11833073		2202	4299	6501	SO:0001583	missense	55552			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1276A>T	19.37:g.11833073T>A	ENSP00000340683:p.Ser426Cys		A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	N	9.776	1.174078	0.21704	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.07688	3.17;3.17;3.17	0.566	0.566	0.17317	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11110	0.0271	M	0.78285	2.405	0.20196	N	0.999925	B	0.09022	0.002	B	0.04013	0.001	T	0.25328	-1.0135	9	0.59425	D	0.04	.	5.4308	0.16452	0.0:1.0E-4:0.0:0.9999	.	426	P16415	ZN823_HUMAN	C	244;426;382	ENSP00000440162:S244C;ENSP00000340683:S426C;ENSP00000410654:S382C	ENSP00000340683:S426C	S	-	1	0	ZNF823	11694073	0.009000	0.17119	0.011000	0.14972	0.401000	0.30781	0.513000	0.22770	0.480000	0.27534	0.155000	0.16302	AGT		0.433	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		A	11833073	T	A	11833073	3	1	158	1	0	0	0	0	1	0	0	0	18184	1580	55	5	560	5	ZNF823	19	11833073	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10		11833073	47295910	90	9346											
RFX1	5989	hgsc.bcm.edu	37	19	14104647	14104647	+	Silent	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr19:14104647T>C	ENST00000254325.4	-	2	243	c.9A>G	c.(7-9)acA>acG	p.T3T		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	3					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TATACGCCTGTGTTGCCATGC	0.557																																																0													39	48	45					19																	14104647		1926	4122	6048	SO:0001819	synonymous_variant	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.9A>G	19.37:g.14104647T>C				Silent	SNP	ENST00000254325.4	37	CCDS12301.1																																																																																				0.557	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		C	14104647	T	C	14104647	2	2	158	1	0	0	0	0	0	0	0	1	13268	1683	59	3		3	RFX1	19	14104647	Silent	SNP	T	TCGA-B0-4841-01A-01D-1361-10	2271574	14104647	45024336	91	9347											
GATAD2A	54815	hgsc.bcm.edu	37	19	19616156	19616156	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr19:19616156G>T	ENST00000360315.3	+	12	2087	c.1775G>T	c.(1774-1776)gGg>gTg	p.G592V	GATAD2A_ENST00000252577.5_Missense_Mutation_p.G567V|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G592V|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G395V|GATAD2A_ENST00000537887.1_Missense_Mutation_p.G221V|GATAD2A_ENST00000404158.1_Missense_Mutation_p.G593V	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	592					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GTTGCAGGCGGGACCCTTGCG	0.652																																																0													89	90	89					19																	19616156		2203	4300	6503	SO:0001583	missense	54815			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1775G>T	19.37:g.19616156G>T	ENSP00000353463:p.Gly592Val		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244059	0.22796	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.38077	1.9;1.74;1.9;1.16	5.48	4.41	0.53225	.	0.106561	0.64402	D	0.000006	T	0.23846	0.0577	L	0.41824	1.3	0.80722	D	1	P;B;P	0.43519	0.489;0.391;0.809	B;B;B	0.35039	0.068;0.194;0.101	T	0.08391	-1.0724	10	0.05833	T	0.94	-15.2519	14.7676	0.69651	0.0:0.1455:0.8545:0.0	.	395;612;592	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	V	592;567;221;612;592;395	ENSP00000353463:G592V;ENSP00000252577:G567V;ENSP00000351552:G592V;ENSP00000388416:G395V	ENSP00000252577:G567V	G	+	2	0	GATAD2A	19477156	1.000000	0.71417	0.545000	0.28153	0.619000	0.37552	4.034000	0.57289	1.275000	0.44379	0.558000	0.71614	GGG		0.652	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		T	19616156	G	T	19616156	3	4	158	1	0	0	0	0	1	0	0	0	6262	1232	43	4	1817	4	GATAD2A	19	19616156	Missense_Mutation	SNP	G	TCGA-B0-4841-01A-01D-1361-10	5511509	19616156	39512827	92	9348											
TSHZ3	57616	hgsc.bcm.edu	37	19	31770083	31770083	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr19:31770083A>G	ENST00000240587.4	-	2	943	c.616T>C	c.(616-618)Tcc>Ccc	p.S206P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	206					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGAAGATGGAGCCATAGAGC	0.617																																																0													76	71	73					19																	31770083		2203	4300	6503	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.616T>C	19.37:g.31770083A>G	ENSP00000240587:p.Ser206Pro		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723955	0.68959	.	.	ENSG00000121297	ENST00000240587	T	0.15256	2.44	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.38838	1.175	0.80722	D	1	D	0.58620	0.983	D	0.77557	0.99	T	0.02581	-1.1138	10	0.49607	T	0.09	-26.3406	15.4586	0.75336	1.0:0.0:0.0:0.0	.	206	Q63HK5	TSH3_HUMAN	P	206	ENSP00000240587:S206P	ENSP00000240587:S206P	S	-	1	0	TSHZ3	36461923	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.957000	0.93082	2.030000	0.59900	0.533000	0.62120	TCC		0.617	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		G	31770083	A	G	31770083	3	3	158	1	0	0	0	0	1	0	0	0	16630	304	11	3	2633	3	TSHZ3	19	31770083	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	12153927	31770083	27358900	93	9349											
C20orf71	128861	hgsc.bcm.edu;ucsc.edu	37	20	31815351	31815351	+	Silent	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr20:31815351G>A	ENST00000375454.3	+	7	903	c.693G>A	c.(691-693)gaG>gaA	p.E231E	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.E195E	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	231						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CAGAACAGGAGGCTGCTCATG	0.557																																																0													96	107	103					20																	31815351		2057	4198	6255	SO:0001819	synonymous_variant	0				CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"BPI fold containing"	16204	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 71"	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.693G>A	20.37:g.31815351G>A			Q5JWG8|Q6NZ38	Silent	SNP	ENST00000375454.3	37	CCDS13216.2																																																																																				0.557	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		A	31815351	G	A	31815351	2	1	158	1	0	0	0	0	0	0	0	1	2119	991	35	2		2	C20orf71	20	31815351	Silent	SNP	G	TCGA-B0-4841-01A-01D-1361-10		31815351	31210169	94	9350											
RBM39	9584	hgsc.bcm.edu	37	20	34292616	34292616	+	Missense_Mutation	SNP	T	T	C	rs199587566	byFrequency	TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr20:34292616T>C	ENST00000253363.6	-	16	1489	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	RBM39_ENST00000528062.3_Missense_Mutation_p.N467S|RBM39_ENST00000361162.6_Missense_Mutation_p.N483S|RBM39_ENST00000407261.4_Missense_Mutation_p.N332S			Q14498	RBM39_HUMAN	RNA binding motif protein 39	489	Interaction with NCOA6. {ECO:0000250}.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ATGCAATGCATTGACAGCAGC	0.373													T|||	4	0.000798722	0.0008	0.0	5008	,	,		20234	0.0		0.0	False		,,,				2504	0.0031															0													120	119	119					20																	34292616		2203	4300	6503	SO:0001583	missense	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1466A>G	20.37:g.34292616T>C	ENSP00000253363:p.Asn489Ser		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	11.70	1.716255	0.30413	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	T;T;T;T	0.05580	3.42;3.42;3.42;3.42	4.82	4.82	0.62117	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.044478	0.85682	D	0.000000	T	0.05868	0.0153	L	0.33753	1.03	0.58432	D	0.999999	B;B;B;B;B	0.24882	0.113;0.113;0.016;0.043;0.02	B;B;B;B;B	0.21708	0.014;0.036;0.004;0.014;0.007	T	0.33163	-0.9879	10	0.10902	T	0.67	.	14.8355	0.70180	0.0:0.0:0.0:1.0	.	461;467;483;489;465	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	S	489;483;467;332	ENSP00000253363:N489S;ENSP00000354437:N483S;ENSP00000436747:N467S;ENSP00000384541:N332S	ENSP00000253363:N489S	N	-	2	0	RBM39	33756030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.644000	0.61397	2.154000	0.67381	0.528000	0.53228	AAT		0.373	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		C	34292616	T	C	34292616	3	2	158	1	0	0	0	0	1	0	0	0	13139	1493	52	3	134	3	RBM39	20	34292616	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	2477265	34292616	28732904	95	9351											
ZFP64	55734	hgsc.bcm.edu	37	20	50768804	50768804	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr20:50768804T>C	ENST00000216923.4	-	6	2276	c.1927A>G	c.(1927-1929)Aca>Gca	p.T643A	ZFP64_ENST00000346617.4_Missense_Mutation_p.T589A|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.T641A	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	643					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGTGGCGCTGTGGTGGCCACT	0.567																																																0													99	80	87					20																	50768804		2203	4300	6503	SO:0001583	missense	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1927A>G	20.37:g.50768804T>C	ENSP00000216923:p.Thr643Ala		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	T	3.151	-0.174129	0.06421	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083	T;T;T	0.06768	3.26;3.31;3.26	5.57	4.47	0.54385	.	0.203476	0.34507	N	0.003906	T	0.06280	0.0162	L	0.27053	0.805	0.27320	N	0.957063	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.007;0.002;0.002	T	0.29427	-1.0012	10	0.33141	T	0.24	-18.8896	8.3541	0.32321	0.0:0.0718:0.1413:0.7869	.	589;641;643	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	A	643;589;641;485	ENSP00000216923:T643A;ENSP00000344615:T589A;ENSP00000360570:T641A	ENSP00000216923:T643A	T	-	1	0	ZFP64	50202211	0.946000	0.32159	0.986000	0.45419	0.087000	0.18053	0.350000	0.20079	0.939000	0.37446	-0.297000	0.09499	ACA		0.567	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		C	50768804	T	C	50768804	3	2	158	1	0	0	0	0	1	0	0	0	17657	1696	59	3	1313	3	ZFP64	20	50768804	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	16476188	50768804	12256716	96	9352											
MAPK1	5594	hgsc.bcm.edu;ucsc.edu	37	22	22142570	22142570	+	Silent	SNP	G	G	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr22:22142570G>A	ENST00000215832.6	-	6	1020	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	MAPK1_ENST00000398822.3_Silent_p.L278L|MAPK1_ENST00000544786.1_Intron	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	TTTGGGAACAGCCTGTTCCAT	0.363																																																0													111	104	106					22																	22142570		2203	4300	6503	SO:0001819	synonymous_variant	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.832C>T	22.37:g.22142570G>A			A8CZ64	Silent	SNP	ENST00000215832.6	37	CCDS13795.1																																																																																				0.363	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			A	22142570	G	A	22142570	2	1	158	1	0	0	0	0	0	0	0	1	9273	962	34	2		2	MAPK1	22	22142570	Silent	SNP	G	TCGA-B0-4841-01A-01D-1361-10		22142570	29161996	97	9353											
SEZ6L	23544	hgsc.bcm.edu	37	22	26688760	26688760	+	Silent	SNP	G	G	T	rs569976807		TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr22:26688760G>T	ENST00000248933.6	+	2	578	c.483G>T	c.(481-483)acG>acT	p.T161T	SEZ6L_ENST00000404234.3_Silent_p.T161T|SEZ6L_ENST00000529632.2_Silent_p.T161T|SEZ6L_ENST00000343706.4_Silent_p.T161T|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.T161T|SEZ6L_ENST00000403121.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	161	O-glycosylated at one site.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTCCTCCACGGAGAAGCCTG	0.672																																																0													42	41	42					22																	26688760		2203	4300	6503	SO:0001819	synonymous_variant	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.483G>T	22.37:g.26688760G>T			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	CCDS13833.1																																																																																				0.672	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			T	26688760	G	T	26688760	2	4	158	1	0	0	0	0	0	0	0	1	14149	1103	39	4		4	SEZ6L	22	26688760	Silent	SNP	G	TCGA-B0-4841-01A-01D-1361-10	4546190	26688760	24615806	98	9354											
PATZ1	23598	hgsc.bcm.edu	37	22	31741483	31741483	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr22:31741483T>A	ENST00000266269.5	-	1	735	c.106A>T	c.(106-108)Aac>Tac	p.N36Y	AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Missense_Mutation_p.N36Y|PATZ1_ENST00000351933.4_Missense_Mutation_p.N36Y|PATZ1_ENST00000215919.3_Missense_Mutation_p.N36Y	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	36					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CGCCCGCCGTTTTTGCGCTGC	0.647																																																0													43	38	40					22																	31741483		2203	4299	6502	SO:0001583	missense	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.106A>T	22.37:g.31741483T>A	ENSP00000266269:p.Asn36Tyr		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846860	0.51164	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	4.09	4.09	0.47781	BTB/POZ (1);BTB/POZ fold (2);	0.296803	0.32802	N	0.005628	T	0.38268	0.1034	M	0.65975	2.015	0.40331	D	0.978927	P;P;D;P	0.56287	0.921;0.804;0.975;0.804	P;B;P;B	0.52217	0.693;0.26;0.686;0.26	T	0.40701	-0.9549	10	0.72032	D	0.01	-20.0611	12.2522	0.54605	0.0:0.0:0.0:1.0	.	36;36;36;36	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	Y	36	ENSP00000266269:N36Y;ENSP00000384173:N36Y;ENSP00000337520:N36Y;ENSP00000215919:N36Y	ENSP00000215919:N36Y	N	-	1	0	PATZ1	30071483	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.347000	0.52200	1.624000	0.50355	0.397000	0.26171	AAC		0.647	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		A	31741483	T	A	31741483	3	1	158	1	0	0	0	0	1	0	0	0	11478	1841	64	5	2260	5	PATZ1	22	31741483	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	5052723	31741483	19563083	99	9355											
SFI1	9814	hgsc.bcm.edu	37	22	31998685	31998685	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr22:31998685A>C	ENST00000400288.2	+	17	1824	c.1719A>C	c.(1717-1719)caA>caC	p.Q573H	SFI1_ENST00000443011.1_Missense_Mutation_p.Q420H|SFI1_ENST00000400289.1_Missense_Mutation_p.Q491H|SFI1_ENST00000540643.1_Missense_Mutation_p.Q518H|SFI1_ENST00000414585.1_Missense_Mutation_p.Q420H|SFI1_ENST00000432498.1_Missense_Mutation_p.Q542H|SFI1_ENST00000443326.1_Missense_Mutation_p.Q491H	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	573					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGGAGTGGCAAACAGTGGCCT	0.597																																																0													56	63	61					22																	31998685		2149	4241	6390	SO:0001583	missense	9814			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1719A>C	22.37:g.31998685A>C	ENSP00000383145:p.Gln573His		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	8.879	0.951197	0.18431	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.95	-0.464	0.12160	.	0.542750	0.18740	N	0.132484	T	0.30634	0.0771	N	0.08118	0	0.09310	N	1	B;B;D;B;B;P	0.71674	0.151;0.013;0.998;0.035;0.013;0.48	B;B;D;B;B;B	0.80764	0.066;0.016;0.994;0.033;0.016;0.204	T	0.12426	-1.0548	10	0.51188	T	0.08	.	5.0559	0.14533	0.5315:0.0:0.3332:0.1354	.	518;491;491;542;573;549	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	H	542;518;491;549;420;420;491;573;188	ENSP00000402679:Q542H;ENSP00000443025:Q518H;ENSP00000416469:Q491H;ENSP00000397148:Q420H;ENSP00000401199:Q420H;ENSP00000383146:Q491H;ENSP00000383145:Q573H;ENSP00000398871:Q188H	ENSP00000383145:Q573H	Q	+	3	2	SFI1	30328685	0.198000	0.23374	0.145000	0.22337	0.136000	0.21042	0.702000	0.25631	-0.074000	0.12820	0.533000	0.62120	CAA		0.597	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		C	31998685	A	C	31998685	3	2	158	1	0	0	0	0	1	0	0	0	14162	11	1	5	1781	5	SFI1	22	31998685	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10	257202	31998685	19305881	100	9356											
FBXO7	25793	hgsc.bcm.edu;ucsc.edu	37	22	32894289	32894290	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chr22:32894289_32894290delAT	ENST00000266087.7	+	9	1668_1669	c.1341_1342delAT	c.(1339-1344)gaatatfs	p.Y448fs	FBXO7_ENST00000397426.1_Frame_Shift_Del_p.Y334fs|FBXO7_ENST00000382058.3_Frame_Shift_Del_p.Y369fs	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	448	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCGGGGGTGAATATGACCAAAG	0.54																																																0																																										SO:0001589	frameshift_variant	25793			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1341_1342delAT	22.37:g.32894291_32894292delAT	ENSP00000266087:p.Tyr448fs		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Frame_Shift_Del	DEL	ENST00000266087.7	37	CCDS13907.1																																																																																				0.54	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			-	32894290	AT	-	32894289	7	5	158	1	0	1	0	1	0	0	0	0	5762	98	4	0	1416	0	FBXO7	22	32894289	Frame_Shift_Del	DEL	AT	TCGA-B0-4841-01A-01D-1361-10	895604	32894289	18410277	101	9357											
GPR174	84636	hgsc.bcm.edu;ucsc.edu	37	X	78426650	78426650	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chrX:78426650A>C	ENST00000276077.1	+	1	182	c.146A>C	c.(145-147)aAa>aCa	p.K49T		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GGTTATATGAAAGAAACAAAA	0.363										HNSCC(63;0.18)																																						0													93	75	81					X																	78426650		2203	4300	6503	SO:0001583	missense	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.146A>C	X.37:g.78426650A>C	ENSP00000276077:p.Lys49Thr		Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	a	10.09	1.255552	0.22965	.	.	ENSG00000147138	ENST00000276077	T	0.73681	-0.77	5.2	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.263003	0.37437	N	0.002087	T	0.74145	0.3678	M	0.84156	2.68	0.38155	D	0.938846	P	0.48294	0.908	P	0.46208	0.507	T	0.72623	-0.4237	10	0.62326	D	0.03	.	4.3403	0.11106	0.6818:0.0:0.1683:0.1499	.	49	Q9BXC1	GP174_HUMAN	T	49	ENSP00000276077:K49T	ENSP00000276077:K49T	K	+	2	0	GPR174	78313306	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	2.941000	0.49011	0.180000	0.19960	-0.407000	0.06327	AAA		0.363	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		C	78426650	A	C	78426650	3	2	158	1	0	0	0	0	1	0	0	0	6674	14	1	5	148	5	GPR174	23	78426650	Missense_Mutation	SNP	A	TCGA-B0-4841-01A-01D-1361-10		78426650	76843910	102	9358											
FAM50A	9130	hgsc.bcm.edu	37	X	153674014	153674014	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4841-01A-01D-1361-10	TCGA-B0-4841-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	cd70430c-c9de-4d59-b72c-50e471dbbebb	9542799b-552f-42d3-aa1f-cadfeeffb85d	g.chrX:153674014T>C	ENST00000393600.3	+	2	255	c.145T>C	c.(145-147)Ttc>Ctc	p.F49L		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	49					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACAAGAAGTTCTCTGCGCA	0.617																																																0													89	67	74					X																	153674014		2203	4300	6503	SO:0001583	missense	9130			BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"DNA segment on chromosome X (unique) 9928 expressed sequence"	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.145T>C	X.37:g.153674014T>C	ENSP00000377225:p.Phe49Leu		A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	ENST00000393600.3	37	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	T	32	5.119068	0.94385	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	5.03	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.83774	2.66	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.80074	-0.1534	9	0.87932	D	0	-21.6671	9.3102	0.37900	0.0:0.0912:0.0:0.9088	.	49	Q14320	FA50A_HUMAN	L	49;9	.	ENSP00000158526:F9L	F	+	1	0	FAM50A	153327208	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.839000	0.69395	1.658000	0.50742	0.430000	0.28490	TTC		0.617	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		C	153674014	T	C	153674014	3	2	158	1	0	0	0	0	1	0	0	0	5579	1725	60	3	151	3	FAM50A	23	153674014	Missense_Mutation	SNP	T	TCGA-B0-4841-01A-01D-1361-10	75247364	153674014	1596546	103	9359											
EBNA1BP2	10969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43637236	43637236	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:43637236C>A	ENST00000236051.2	-	3	378	c.237G>T	c.(235-237)gaG>gaT	p.E79D	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.E134D|WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000472982.1_5'UTR	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	79					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E79D(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCCACCGATCTCCGGTACCG	0.502																																																1	Substitution - Missense(1)	kidney(1)											171	166	168					1																	43637236		2203	4300	6503	SO:0001583	missense	10969			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"EBNA1-binding protein 2"			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.237G>T	1.37:g.43637236C>A	ENSP00000236051:p.Glu79Asp		Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	4.152	0.026608	0.08054	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.48522	0.81;0.85	5.91	-0.822	0.10819	.	0.298915	0.41294	N	0.000911	T	0.21186	0.0510	N	0.17764	0.52	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.16722	0.016;0.002;0.002	T	0.10497	-1.0627	10	0.12766	T	0.61	-15.3178	0.9693	0.01412	0.2488:0.2352:0.1007:0.4153	.	79;79;79	B4DHA6;Q6IB29;Q99848	.;.;EBP2_HUMAN	D	134;79	ENSP00000407323:E134D;ENSP00000236051:E79D	ENSP00000236051:E79D	E	-	3	2	EBNA1BP2	43409823	0.033000	0.19621	0.000000	0.03702	0.000000	0.00434	-0.032000	0.12266	-0.438000	0.07232	-0.813000	0.03139	GAG		0.502	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			A	43637236	C	A	43637236	3	1	159	1	0	0	0	0	1	0	0	0	4887	912	32	4	711	4	EBNA1BP2	1	43637236	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08		43637236	205613385	1	9360											
FLG2	388698	broad.mit.edu;ucsc.edu	37	1	152324635	152324635	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:152324635C>A	ENST00000388718.5	-	3	5699	c.5627G>T	c.(5626-5628)aGg>aTg	p.R1876M	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1876					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1876M(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGATCTCCTTCTTCCAGT	0.507																																																1	Substitution - Missense(1)	kidney(1)											330	294	306					1																	152324635		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5627G>T	1.37:g.152324635C>A	ENSP00000373370:p.Arg1876Met		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524253	0.44866	.	.	ENSG00000143520	ENST00000388718	T	0.04119	3.7	4.43	3.51	0.40186	.	.	.	.	.	T	0.07279	0.0184	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	P	0.62885	0.908	T	0.18935	-1.0321	9	0.46703	T	0.11	-0.9508	8.9474	0.35767	0.0:0.897:0.0:0.103	.	1876	Q5D862	FILA2_HUMAN	M	1876	ENSP00000373370:R1876M	ENSP00000373370:R1876M	R	-	2	0	FLG2	150591259	.	.	0.008000	0.14137	0.026000	0.11368	.	.	1.246000	0.43901	0.543000	0.68304	AGG		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152324635	C	A	152324635	3	1	159	1	0	0	0	0	1	0	0	0	5925	681	24	4	1552	4	FLG2	1	152324635	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08	108687399	152324635	96925986	2	9361											
ARHGAP30	257106	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161018362	161018362	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:161018362C>T	ENST00000368013.3	-	12	2769	c.2449G>A	c.(2449-2451)Ggt>Agt	p.G817S	USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G640S|USF1_ENST00000435396.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	817	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.G817S(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTGTCTTCACCATCTCCTTGG	0.547																																																1	Substitution - Missense(1)	kidney(1)											199	186	190					1																	161018362		2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2449G>A	1.37:g.161018362C>T	ENSP00000356992:p.Gly817Ser		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	8.150	0.787094	0.16189	.	.	ENSG00000186517	ENST00000368013;ENST00000368015	T;T	0.32515	2.98;1.45	4.58	2.22	0.28083	.	1.012260	0.07934	N	0.978015	T	0.08044	0.0201	L	0.39633	1.23	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.38585	-0.9654	10	0.10902	T	0.67	.	7.209	0.25923	0.0:0.676:0.0:0.324	.	817	Q7Z6I6	RHG30_HUMAN	S	817;640	ENSP00000356992:G817S;ENSP00000356994:G640S	ENSP00000356992:G817S	G	-	1	0	ARHGAP30	159284986	0.000000	0.05858	0.511000	0.27724	0.821000	0.46438	-0.319000	0.08039	0.868000	0.35678	0.455000	0.32223	GGT		0.547	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		T	161018362	C	T	161018362	3	4	159	1	0	0	0	0	1	0	0	0	879	594	21	2	860	2	ARHGAP30	1	161018362	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08	8693727	161018362	88232259	3	9362											
CNTN2	6900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205041696	205041696	+	Silent	SNP	A	A	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:205041696A>C	ENST00000331830.4	+	21	3101	c.2817A>C	c.(2815-2817)cgA>cgC	p.R939R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	939	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.R939R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCCTTTCCGAAATGAGTCTG	0.532																																					Melanoma(183;2548 2817 37099 41192)											1	Substitution - coding silent(1)	kidney(1)											66	64	65					1																	205041696		2203	4300	6503	SO:0001819	synonymous_variant	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2817A>C	1.37:g.205041696A>C			P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	CCDS1449.1																																																																																				0.532	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		C	205041696	A	C	205041696	2	2	159	1	0	0	0	0	0	0	0	1	3643	233	9	5		5	CNTN2	1	205041696	Silent	SNP	A	TCGA-B0-4842-01A-02D-1421-08	44023334	205041696	44208925	4	9363											
DISP1	84976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223178568	223178568	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:223178568T>C	ENST00000284476.6	+	8	3993	c.3829T>C	c.(3829-3831)Tac>Cac	p.Y1277H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1277					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.Y1277H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCCAGATGCCTACAAACACTT	0.517																																																1	Substitution - Missense(1)	kidney(1)											134	123	127					1																	223178568		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3829T>C	1.37:g.223178568T>C	ENSP00000284476:p.Tyr1277His		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.883490	0.51908	.	.	ENSG00000154309	ENST00000284476	D	0.92752	-3.1	5.82	5.82	0.92795	.	0.321128	0.31145	N	0.008169	D	0.88175	0.6366	L	0.34521	1.04	0.32011	N	0.602141	B	0.18461	0.028	B	0.17433	0.018	D	0.87728	0.2577	10	0.87932	D	0	-31.4258	14.7488	0.69508	0.0:0.0:0.0:1.0	.	1277	Q96F81	DISP1_HUMAN	H	1277	ENSP00000284476:Y1277H	ENSP00000284476:Y1277H	Y	+	1	0	DISP1	221245191	1.000000	0.71417	0.792000	0.32020	0.350000	0.29205	3.640000	0.54350	2.225000	0.72522	0.459000	0.35465	TAC		0.517	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		C	223178568	T	C	223178568	3	2	159	1	0	0	0	0	1	0	0	0	4541	1522	53	3	3855	3	DISP1	1	223178568	Missense_Mutation	SNP	T	TCGA-B0-4842-01A-02D-1421-08	18136872	223178568	26072053	5	9364											
PYCR2	29920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	226109762	226109762	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr1:226109762C>A	ENST00000343818.6	-	4	484	c.336G>T	c.(334-336)caG>caT	p.Q112H	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Intron	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	112					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)	p.Q112H(1)		kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	TGGGGGCTGGCTGGAATGCCA	0.607																																																1	Substitution - Missense(1)	kidney(1)											41	42	42					1																	226109762		2203	4300	6503	SO:0001583	missense	29920			AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.336G>T	1.37:g.226109762C>A	ENSP00000342502:p.Gln112His		A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	ENST00000343818.6	37	CCDS31043.1	.	.	.	.	.	.	.	.	.	.	c	1.502	-0.551859	0.03996	.	.	ENSG00000143811	ENST00000343818;ENST00000316940;ENST00000316918	T	0.63417	-0.04	4.79	2.92	0.33932	NAD(P)-binding domain (1);	0.175044	0.52532	D	0.000070	T	0.40015	0.1100	N	0.16903	0.455	0.26780	N	0.969618	B;B	0.11235	0.001;0.004	B;B	0.15052	0.004;0.012	T	0.21655	-1.0239	10	0.44086	T	0.13	.	4.568	0.12196	0.174:0.6431:0.0:0.1829	.	112;111	Q96C36;E7EUS9	P5CR2_HUMAN;.	H	112;111;65	ENSP00000342502:Q112H	ENSP00000321499:Q65H	Q	-	3	2	PYCR2	224176385	0.909000	0.30893	0.987000	0.45799	0.185000	0.23345	0.010000	0.13242	0.733000	0.32492	0.655000	0.94253	CAG		0.607	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		A	226109762	C	A	226109762	3	1	159	1	0	0	0	0	1	0	0	0	12862	796	28	4	642	4	PYCR2	1	226109762	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08	2931194	226109762	23140859	6	9365											
PXDN	7837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1664726	1664726	+	Silent	SNP	G	G	A	rs558268059		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr2:1664726G>A	ENST00000252804.4	-	14	1814	c.1764C>T	c.(1762-1764)gaC>gaT	p.D588D		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	588	Ig-like C2-type 4.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D588D(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGCGACCTGCGTCTGCAGGGC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		20076	0.001		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											98	102	101					2																	1664726		2039	4181	6220	SO:0001819	synonymous_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1764C>T	2.37:g.1664726G>A			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	0.068	-1.207619	0.01568	.	.	ENSG00000130508	ENST00000433670	.	.	.	5.05	-6.55	0.01854	.	.	.	.	.	T	0.62196	0.2408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65319	-0.6197	4	.	.	.	-25.229	15.011	0.71550	0.725:0.0:0.275:0.0	.	.	.	.	M	584	.	.	T	-	2	0	PXDN	1643733	0.003000	0.15002	0.002000	0.10522	0.012000	0.07955	-0.830000	0.04410	-1.250000	0.02497	-0.229000	0.12294	ACG		0.527	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		A	1664726	G	A	1664726	2	1	159	1	0	0	0	0	0	0	0	1	12853	1136	40	1		1	PXDN	2	1664726	Silent	SNP	G	TCGA-B0-4842-01A-02D-1421-08		1664726	241534647	7	9366											
NRBP1	29959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27663740	27663740	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr2:27663740C>T	ENST00000233557.3	+	15	2094	c.1262C>T	c.(1261-1263)aCa>aTa	p.T421I	NRBP1_ENST00000379863.3_Missense_Mutation_p.T429I|KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.T421I|KRTCAP3_ENST00000543753.1_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	421					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.T421I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GAGGAGGTGACATCACCTGTC	0.602																																																1	Substitution - Missense(1)	kidney(1)											62	63	63					2																	27663740		2203	4300	6503	SO:0001583	missense	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1262C>T	2.37:g.27663740C>T	ENSP00000233557:p.Thr421Ile		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895344	0.33442	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.29142	1.58;1.58;1.58	5.95	5.95	0.96441	.	0.044063	0.85682	D	0.000000	T	0.14313	0.0346	N	0.02539	-0.55	0.35126	D	0.767502	B;B;B	0.20459	0.045;0.0;0.0	B;B;B	0.21546	0.035;0.004;0.002	T	0.21759	-1.0236	10	0.33141	T	0.24	-8.8035	12.6205	0.56600	0.2561:0.7439:0.0:0.0	.	401;429;421	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	I	421;401;421;429	ENSP00000233557:T421I;ENSP00000369181:T421I;ENSP00000369192:T429I	ENSP00000233557:T421I	T	+	2	0	NRBP1	27517244	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.151000	0.58105	2.821000	0.97095	0.561000	0.74099	ACA		0.602	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		T	27663740	C	T	27663740	3	4	159	1	0	0	0	0	1	0	0	0	10644	478	17	2	1312	2	NRBP1	2	27663740	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08	25999014	27663740	215535633	8	9367											
NRXN1	9378	broad.mit.edu	37	2	50724852	50724852	+	Splice_Site	SNP	C	C	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr2:50724852C>G	ENST00000406316.2	-	14	3974	c.2498G>C	c.(2497-2499)gGt>gCt	p.G833A	NRXN1_ENST00000401669.2_Splice_Site_p.G833A|NRXN1_ENST00000404971.1_Splice_Site_p.G873A|NRXN1_ENST00000402717.3_Splice_Site_p.G825A|NRXN1_ENST00000405472.3_Splice_Site_p.G825A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Splice_Site_p.G833A|NRXN1_ENST00000401710.1_5'Flank	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	833	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G874A(1)|p.G873A(1)|p.G833A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCCATTTGACCTAAAAGAGA	0.373																																																3	Substitution - Missense(3)	kidney(3)											69	64	66					2																	50724852		1877	4098	5975	SO:0001630	splice_region_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2498-1G>C	2.37:g.50724852C>G			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359664	0.82353	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	M	0.67569	2.06	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.974;1.0;1.0	T	0.79619	-0.1728	10	0.08179	T	0.78	.	20.434	0.99088	0.0:1.0:0.0:0.0	.	873;833;825	Q9ULB1-3;F8WB18;A7E294	.;.;.	A	873;833;825;833;874;825;833	ENSP00000385142:G873A;ENSP00000384311:G833A;ENSP00000434015:G825A;ENSP00000385017:G833A;ENSP00000385434:G825A;ENSP00000385681:G833A	ENSP00000385017:G833A	G	-	2	0	NRXN1	50578356	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.625000	0.83145	2.838000	0.97847	0.561000	0.74099	GGT		0.373	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		Missense_Mutation	G	50724852	C	G	50724852	5	3	159	1	0	0	0	0	0	0	1	0	10667	521	18	4	2328	4	NRXN1	2	50724852	Splice_Site	SNP	C	TCGA-B0-4842-01A-02D-1421-08	23061112	50724852	192474521	9	9368											
SPTBN1	6711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	54883108	54883108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr2:54883108G>T	ENST00000356805.4	+	29	6300	c.6019G>T	c.(6019-6021)Gaa>Taa	p.E2007*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.E1994*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2007	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.E1994*(1)|p.E2007*(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGACAAGTGGGAAGACCGATG	0.388																																																2	Substitution - Nonsense(2)	kidney(2)											127	115	119					2																	54883108		2203	4300	6503	SO:0001587	stop_gained	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6019G>T	2.37:g.54883108G>T	ENSP00000349259:p.Glu2007*		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	50	16.226723	0.99858	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.6087	0.99469	0.0:0.0:1.0:0.0	.	.	.	.	X	2007;1994	.	ENSP00000334156:E1994X	E	+	1	0	SPTBN1	54736612	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.802000	0.99131	2.866000	0.98385	0.650000	0.86243	GAA		0.388	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54883108	G	T	54883108	4	4	159	1	0	0	0	0	0	1	0	0	15124	1175	41	4	6242	4	SPTBN1	2	54883108	Nonsense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08	4158256	54883108	188316265	10	9369											
ORC4L	5000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	148693257	148693257	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr2:148693257T>C	ENST00000392857.5	-	14	1240	c.1133A>G	c.(1132-1134)cAc>cGc	p.H378R	ORC4_ENST00000535373.1_Missense_Mutation_p.H378R|ORC4_ENST00000488761.1_5'Flank|ORC4_ENST00000540442.1_Missense_Mutation_p.H304R|ORC4_ENST00000542387.1_Missense_Mutation_p.H161R|ORC4_ENST00000536575.1_Missense_Mutation_p.H294R|ORC4_ENST00000392858.1_Missense_Mutation_p.H378R|ORC4_ENST00000264169.2_Missense_Mutation_p.H378R	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	378					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.H378R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TTGCTGCAAGTGTTCAAAAGC	0.383																																																1	Substitution - Missense(1)	kidney(1)											84	87	86					2																	148693257		2203	4300	6503	SO:0001583	missense	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"ATPases / AAA-type"	8490	protein-coding gene	gene with protein product		603056	"origin recognition complex, subunit 4 (yeast homolog)-like", "origin recognition complex, subunit 4-like (yeast)", "origin recognition complex, subunit 4-like (S. cerevisiae)", "origin recognition complex, subunit 4 homolog (S. cerevisiae)"	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.1133A>G	2.37:g.148693257T>C	ENSP00000376597:p.His378Arg		B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	37	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015545	0.75161	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.46	5.46	0.80206	.	0.095179	0.64402	D	0.000001	T	0.81828	0.4905	L	0.50993	1.605	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.77744	-0.2473	10	0.12103	T	0.63	-12.5317	15.5338	0.75986	0.0:0.0:0.0:1.0	.	378	O43929	ORC4_HUMAN	R	378;378;378;304;294;378;161	ENSP00000264169:H378R;ENSP00000441953:H378R;ENSP00000376598:H378R;ENSP00000438326:H304R;ENSP00000441502:H294R;ENSP00000376597:H378R;ENSP00000437440:H161R	ENSP00000264169:H378R	H	-	2	0	ORC4	148409727	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.519000	0.81809	2.058000	0.61347	0.528000	0.53228	CAC		0.383	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		C	148693257	T	C	148693257	3	2	159	1	0	0	0	0	1	0	0	0	11266	1696	59	3	181	3	ORC4L	2	148693257	Missense_Mutation	SNP	T	TCGA-B0-4842-01A-02D-1421-08	93810149	148693257	94506116	11	9370											
VHL	7428	broad.mit.edu	37	3	10191470	10191470	+	Splice_Site	SNP	G	G	A	rs5030817		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:10191470G>A	ENST00000256474.2	+	3	1303		c.e3-1		VHL_ENST00000345392.2_Splice_Site|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(23)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCCCTTCCAGTGTATACTCT	0.493		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	23	Unknown(23)	kidney(21)|soft_tissue(2)	GRCh37	CS071276|CS941547|CS961706	VHL	S	rs5030817						88	80	83					3																	10191470		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.464-1G>A	3.37:g.10191470G>A			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983329	0.35036	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2774	0.73753	0.0:0.0:1.0:0.0	rs5030817	.	.	.	.	-1	.	.	.	+	.	.	VHL	10166470	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	7.062000	0.76706	2.535000	0.85469	0.655000	0.94253	.		0.493	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	A	10191470	G	A	10191470	5	1	159	1	0	0	0	0	0	0	1	0	17167	1043	36	2	473	2	VHL	3	10191470	Splice_Site	SNP	G	TCGA-B0-4842-01A-02D-1421-08		10191470	187830960	12	9371											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52439306	52439306	+	Silent	SNP	A	A	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:52439306A>C	ENST00000460680.1	-	11	1407	c.936T>G	c.(934-936)ggT>ggG	p.G312G	BAP1_ENST00000296288.5_Silent_p.G294G	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G312G(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCTCCTCTGCACCATCTGAGA	0.592			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - coding silent(1)	kidney(1)											85	88	87					3																	52439306		2203	4300	6503	SO:0001819	synonymous_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.936T>G	3.37:g.52439306A>C			B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	ENST00000460680.1	37	CCDS2853.1																																																																																				0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			C	52439306	A	C	52439306	2	2	159	1	0	0	0	0	0	0	0	1	1311	146	6	5		5	BAP1	3	52439306	Silent	SNP	A	TCGA-B0-4842-01A-02D-1421-08	42247836	52439306	145583124	13	9372											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52620674	52620674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:52620674G>A	ENST00000296302.7	-	20	3155	c.3154C>T	c.(3154-3156)Cga>Tga	p.R1052*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1067*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1052*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1052*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1067*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1027*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1027*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R1020*			Q86U86	PB1_HUMAN	polybromo 1	1052	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1052*(3)|p.R1020*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCCTCATCTCGGAAGTTTTCT	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	5	Substitution - Nonsense(5)	kidney(3)|central_nervous_system(2)											59	64	62					3																	52620674		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3154C>T	3.37:g.52620674G>A	ENSP00000296302:p.Arg1052*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	38	6.964974	0.97967	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.24	0.945	0.19543	.	0.148125	0.43747	D	0.000526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-38.8081	10.2479	0.43352	0.0:0.1033:0.4046:0.4922	.	.	.	.	X	1020;1027;1052;1052;1052;1027;1067;1067;1051;1010	.	ENSP00000296302:R1052X	R	-	1	2	PBRM1	52595714	0.990000	0.36364	0.995000	0.50966	0.972000	0.66771	0.386000	0.20702	0.160000	0.19432	-0.324000	0.08512	CGA		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52620674	G	A	52620674	4	1	159	1	0	0	0	0	0	1	0	0	11493	1124	39	1	1790	1	PBRM1	3	52620674	Nonsense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08	181368	52620674	145401756	14	9373											
IGSF10	285313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	151165112	151165112	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:151165112G>A	ENST00000282466.3	-	4	2656	c.2657C>T	c.(2656-2658)aCc>aTc	p.T886I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	886					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.T886I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGTTGATTGGTTGTGCCTTG	0.418																																																1	Substitution - Missense(1)	kidney(1)											358	357	357					3																	151165112		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2657C>T	3.37:g.151165112G>A	ENSP00000282466:p.Thr886Ile		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	9.795	1.179102	0.21787	.	.	ENSG00000152580	ENST00000282466	T	0.68903	-0.36	5.41	-2.63	0.06133	.	1.367560	0.04948	N	0.459768	T	0.39253	0.1071	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.11421	-1.0588	10	0.34782	T	0.22	.	0.8884	0.01249	0.2716:0.102:0.2872:0.3392	.	886	Q6WRI0	IGS10_HUMAN	I	886	ENSP00000282466:T886I	ENSP00000282466:T886I	T	-	2	0	IGSF10	152647802	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-0.802000	0.04545	-0.316000	0.08690	0.591000	0.81541	ACC		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		A	151165112	G	A	151165112	3	1	159	1	0	0	0	0	1	0	0	0	7599	1261	44	2	5274	2	IGSF10	3	151165112	Missense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08	98544438	151165112	46857318	15	9374											
DHX36	170506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	154018456	154018456	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:154018456T>A	ENST00000496811.1	-	11	1468	c.1388A>T	c.(1387-1389)gAa>gTa	p.E463V	DHX36_ENST00000308361.6_Missense_Mutation_p.E463V|DHX36_ENST00000329463.5_Missense_Mutation_p.E463V|DHX36_ENST00000544526.1_Missense_Mutation_p.E463V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	463					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.E463V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTCCATCATTTCTATAACATC	0.308																																																1	Substitution - Missense(1)	kidney(1)											116	112	113					3																	154018456		2203	4297	6500	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1388A>T	3.37:g.154018456T>A	ENSP00000417078:p.Glu463Val		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179727	0.57800	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1	5.75	4.59	0.56863	.	0.136539	0.64402	D	0.000002	T	0.04907	0.0132	L	0.46157	1.445	0.38015	D	0.934673	B;B;B	0.30146	0.27;0.27;0.177	B;B;B	0.37015	0.239;0.239;0.12	T	0.41197	-0.9522	10	0.41790	T	0.15	.	12.1564	0.54079	0.0:0.0671:0.0:0.9329	.	463;463;463	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	V	463;463;463;463;377	ENSP00000417078:E463V;ENSP00000309296:E463V;ENSP00000444247:E463V;ENSP00000330113:E463V;ENSP00000419862:E377V	ENSP00000309296:E463V	E	-	2	0	DHX36	155501150	1.000000	0.71417	0.933000	0.37362	0.938000	0.57974	5.771000	0.68881	1.097000	0.41459	0.528000	0.53228	GAA		0.308	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		A	154018456	T	A	154018456	3	1	159	1	0	0	0	0	1	0	0	0	4511	1783	62	5	1698	5	DHX36	3	154018456	Missense_Mutation	SNP	T	TCGA-B0-4842-01A-02D-1421-08	2853344	154018456	44003974	16	9375											
MFSD1	64747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	158523240	158523240	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:158523240G>T	ENST00000264266.8	+	3	368	c.306G>T	c.(304-306)ttG>ttT	p.L102F	MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000415822.2_Missense_Mutation_p.L151F			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	102					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.L102F(1)|p.L151F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTGGCTTTTTGATAGACCGAG	0.358																																					Pancreas(62;1186 1654 36636 37908)											2	Substitution - Missense(2)	kidney(2)											212	196	201					3																	158523240		2203	4300	6503	SO:0001583	missense	64747			BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.306G>T	3.37:g.158523240G>T	ENSP00000264266:p.Leu102Phe		B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37		.	.	.	.	.	.	.	.	.	.	G	18.03	3.531458	0.64972	.	.	ENSG00000118855	ENST00000486568;ENST00000465739;ENST00000415822;ENST00000264266;ENST00000361159;ENST00000474670;ENST00000482835	T;D;T;T;T;D	0.85861	-0.33;-2.04;-0.29;-0.29;-0.29;-2.04	5.57	3.77	0.43336	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	M	0.81239	2.535	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.91362	0.5112	10	0.52906	T	0.07	.	11.5025	0.50446	0.1505:0.0:0.8495:0.0	.	102	Q9H3U5	MFSD1_HUMAN	F	86;29;151;102;102;75;91	ENSP00000417414:L86F;ENSP00000418055:L29F;ENSP00000403117:L151F;ENSP00000264266:L102F;ENSP00000419708:L75F;ENSP00000418503:L91F	ENSP00000264266:L102F	L	+	3	2	MFSD1	160005934	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.644000	0.37228	1.358000	0.45922	-0.262000	0.10625	TTG		0.358	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		T	158523240	G	T	158523240	3	4	159	1	0	0	0	0	1	0	0	0	9529	1281	45	4	463	4	MFSD1	3	158523240	Missense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08	4504784	158523240	39499190	17	9376											
ATP13A5	344905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	193007828	193007828	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr3:193007828G>T	ENST00000342358.4	-	26	2986	c.2869C>A	c.(2869-2871)Cca>Aca	p.P957T	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	957						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.P957T(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCCAGCTTTGGGTAGGCATGA	0.378																																																1	Substitution - Missense(1)	kidney(1)											98	98	98					3																	193007828		2203	4300	6503	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2869C>A	3.37:g.193007828G>T	ENSP00000341942:p.Pro957Thr		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287035	0.59867	.	.	ENSG00000187527	ENST00000342358	D	0.89617	-2.54	5.61	4.74	0.60224	.	0.073585	0.64402	D	0.000019	D	0.87561	0.6208	M	0.66297	2.02	0.35403	D	0.791746	P	0.45672	0.864	B	0.43194	0.411	D	0.88715	0.3225	10	0.27082	T	0.32	-6.7864	12.2734	0.54719	0.0821:0.0:0.9179:0.0	.	957	Q4VNC0	AT135_HUMAN	T	957	ENSP00000341942:P957T	ENSP00000341942:P957T	P	-	1	0	ATP13A5	194490522	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.666000	0.61554	1.380000	0.46344	-0.142000	0.14014	CCA		0.378	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		T	193007828	G	T	193007828	3	4	159	1	0	0	0	0	1	0	0	0	1127	1232	43	4	805	4	ATP13A5	3	193007828	Missense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08	34484588	193007828	5014602	18	9377											
NOP14	8602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2955338	2955338	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr4:2955338T>C	ENST00000314262.6	-	5	695	c.647A>G	c.(646-648)gAg>gGg	p.E216G	NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.E216G|NOP14_ENST00000416614.2_Missense_Mutation_p.E216G|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.E216G	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	216					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)	p.E216G(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTCCGTGAGCTCGAGGGCATC	0.478																																																1	Substitution - Missense(1)	kidney(1)											260	242	248					4																	2955338		2203	4300	6503	SO:0001583	missense	8602			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.647A>G	4.37:g.2955338T>C	ENSP00000315674:p.Glu216Gly		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.672890	0.67928	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.64	4.64	0.57946	.	0.055041	0.64402	D	0.000001	T	0.60650	0.2285	M	0.88704	2.975	0.53688	D	0.99997	D;D	0.67145	0.992;0.996	D;D	0.65874	0.939;0.939	T	0.67039	-0.5771	10	0.87932	D	0	-39.3663	8.7496	0.34607	0.0:0.0867:0.0:0.9133	.	216;216	E9PFK5;P78316	.;NOP14_HUMAN	G	216;216;216;216;115	ENSP00000405068:E216G;ENSP00000315674:E216G;ENSP00000427415:E216G;ENSP00000381146:E216G	ENSP00000315674:E216G	E	-	2	0	NOP14	2925136	1.000000	0.71417	0.995000	0.50966	0.671000	0.39405	7.540000	0.82074	1.867000	0.54127	0.402000	0.26972	GAG		0.478	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		C	2955338	T	C	2955338	3	2	159	1	0	0	0	0	1	0	0	0	10538	1551	54	3	1982	3	NOP14	4	2955338	Missense_Mutation	SNP	T	TCGA-B0-4842-01A-02D-1421-08		2955338	188198938	19	9378											
ANKRD50	57182	broad.mit.edu;ucsc.edu	37	4	125590998	125590998	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr4:125590998T>G	ENST00000504087.1	-	4	4471	c.3434A>C	c.(3433-3435)gAt>gCt	p.D1145A	ANKRD50_ENST00000515641.1_Missense_Mutation_p.D966A	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1145	Ser-rich.							p.D1145A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AGGCTGCATATCCCCTCCACC	0.428																																																1	Substitution - Missense(1)	kidney(1)											149	142	145					4																	125590998		2203	4300	6503	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3434A>C	4.37:g.125590998T>G	ENSP00000425658:p.Asp1145Ala		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.071741	0.36566	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66815	-0.23;-0.19	5.19	5.19	0.71726	.	0.102905	0.64402	D	0.000005	T	0.49729	0.1574	L	0.27053	0.805	0.58432	D	0.999997	B	0.29627	0.252	B	0.24155	0.051	T	0.48317	-0.9046	10	0.08179	T	0.78	.	15.2021	0.73147	0.0:0.0:0.0:1.0	.	1145	Q9ULJ7	ANR50_HUMAN	A	1145;966	ENSP00000425658:D1145A;ENSP00000425355:D966A	ENSP00000425658:D1145A	D	-	2	0	ANKRD50	125810448	1.000000	0.71417	0.852000	0.33557	0.976000	0.68499	7.365000	0.79537	2.179000	0.69175	0.459000	0.35465	GAT		0.428	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		G	125590998	T	G	125590998	3	3	159	1	0	0	0	0	1	0	0	0	677	1435	50	5	859	5	ANKRD50	4	125590998	Missense_Mutation	SNP	T	TCGA-B0-4842-01A-02D-1421-08	122635660	125590998	65563278	20	9379											
TERT	7015	broad.mit.edu	37	5	1255447	1255447	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:1255447C>T	ENST00000310581.5	-	14	3169	c.3112G>A	c.(3112-3114)Gac>Aac	p.D1038N	TERT_ENST00000334602.6_Missense_Mutation_p.D975N|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1038	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.D1026N(1)|p.D1038N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GAGGCCGTGTCAGAGATGACG	0.567									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																							2	Substitution - Missense(2)	kidney(2)											72	78	76					5																	1255447		2124	4235	6359	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3112G>A	5.37:g.1255447C>T	ENSP00000309572:p.Asp1038Asn		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	c	9.944	1.218370	0.22373	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.96802	-4.13;-4.01	4.63	3.74	0.42951	.	0.111988	0.64402	N	0.000016	D	0.93106	0.7805	L	0.49640	1.575	0.80722	D	1	B;B	0.27732	0.185;0.187	B;B	0.29716	0.106;0.063	D	0.88801	0.3285	10	0.33940	T	0.23	-32.4099	7.4942	0.27479	0.0:0.7322:0.1696:0.0982	.	975;1038	O14746-3;O14746	.;TERT_HUMAN	N	1038;975	ENSP00000309572:D1038N;ENSP00000334346:D975N	ENSP00000309572:D1038N	D	-	1	0	TERT	1308447	0.967000	0.33354	0.027000	0.17364	0.010000	0.07245	2.287000	0.43505	0.909000	0.36697	0.655000	0.94253	GAC		0.567	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			T	1255447	C	T	1255447	3	4	159	1	0	0	0	0	1	0	0	0	15769	826	29	2	298	2	TERT	5	1255447	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08		1255447	179659813	21	9380											
LIFR	3977	hgsc.bcm.edu;ucsc.edu	37	5	38486023	38486023	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:38486023delC	ENST00000263409.4	-	17	2557	c.2395delG	c.(2395-2397)gctfs	p.A799fs	LIFR_ENST00000453190.2_Frame_Shift_Del_p.A799fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	799	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGAAGATCAGCAATTCTCAGT	0.398			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													125	115	118					5																	38486023		2203	4300	6503	SO:0001589	frameshift_variant	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2395delG	5.37:g.38486023delC	ENSP00000263409:p.Ala799fs		Q6LCD9	Frame_Shift_Del	DEL	ENST00000263409.4	37	CCDS3927.1																																																																																				0.398	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		-	38486023	C	-	38486023	7	5	159	1	0	1	0	1	0	0	0	0	8782	710	25	0	914	0	LIFR	5	38486023	Frame_Shift_Del	DEL	C	TCGA-B0-4842-01A-02D-1421-08	37230576	38486023	142429237	22	9381											
HEATR7B2	133558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	41064635	41064635	+	Silent	SNP	G	G	T	rs374206277		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:41064635G>T	ENST00000399564.4	-	5	849	c.399C>A	c.(397-399)ctC>ctA	p.L133L		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	133								p.L133L(1)									TTTGCATGGTGAGCAGGGTCA	0.463																																																1	Substitution - coding silent(1)	kidney(1)											87	84	84					5																	41064635		1936	4164	6100	SO:0001819	synonymous_variant	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.399C>A	5.37:g.41064635G>T			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																				0.463	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41064635	G	T	41064635	2	4	159	1	0	0	0	0	0	0	0	1	7037	1277	45	4		4	HEATR7B2	5	41064635	Silent	SNP	G	TCGA-B0-4842-01A-02D-1421-08	2578612	41064635	139850625	23	9382											
SV2C	22987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	75427933	75427933	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:75427933C>T	ENST00000502798.2	+	2	800	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	SV2C_ENST00000322285.7_Missense_Mutation_p.R120W	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	120					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.R120W(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GTACAAGGACCGGCGGGAGCT	0.547																																																1	Substitution - Missense(1)	kidney(1)											95	112	106					5																	75427933		2068	4208	6276	SO:0001583	missense	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.358C>T	5.37:g.75427933C>T	ENSP00000423541:p.Arg120Trp		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461230	0.84317	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.46063	0.88;0.88	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);	0.477209	0.23746	N	0.044969	T	0.61974	0.2390	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.62478	-0.6846	10	0.66056	D	0.02	-12.5835	19.8415	0.96690	0.0:1.0:0.0:0.0	.	120	Q496J9	SV2C_HUMAN	W	120	ENSP00000423541:R120W;ENSP00000316983:R120W	ENSP00000316983:R120W	R	+	1	2	SV2C	75463689	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	2.855000	0.48333	2.700000	0.92200	0.655000	0.94253	CGG		0.547	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			T	75427933	C	T	75427933	3	4	159	1	0	0	0	0	1	0	0	0	15424	643	23	1	360	1	SV2C	5	75427933	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08	34363298	75427933	105487327	24	9383											
ACSL6	23305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131323842	131323842	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:131323842G>T	ENST00000379240.1	-	7	808	c.655C>A	c.(655-657)Cca>Aca	p.P219T	ACSL6_ENST00000379244.1_Missense_Mutation_p.P219T|ACSL6_ENST00000379264.2_Missense_Mutation_p.P244T|ACSL6_ENST00000543479.1_Missense_Mutation_p.P219T|ACSL6_ENST00000296869.4_Missense_Mutation_p.P244T|ACSL6_ENST00000379255.1_Missense_Mutation_p.P184T|ACSL6_ENST00000544770.1_Missense_Mutation_p.P128T|ACSL6_ENST00000357096.1_Missense_Mutation_p.P184T|ACSL6_ENST00000379272.2_Missense_Mutation_p.P234T|ACSL6_ENST00000379249.3_Missense_Mutation_p.P219T|ACSL6_ENST00000431707.1_Missense_Mutation_p.P199T|ACSL6_ENST00000379246.1_Missense_Mutation_p.P230T			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	219					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.P244T(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGAGGCCTGGAGTCTCCTTC	0.562																																																2	Substitution - Missense(2)	kidney(2)											335	306	316					5																	131323842		2203	4300	6503	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.655C>A	5.37:g.131323842G>T	ENSP00000368542:p.Pro219Thr		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.201965	0.79127	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.92	5.92	0.95590	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.73217	2.22	0.80722	D	1	B;B;B;B;B;B;B	0.28820	0.042;0.188;0.224;0.124;0.181;0.019;0.188	B;B;B;B;B;B;B	0.39152	0.098;0.292;0.257;0.191;0.172;0.292;0.167	T	0.01904	-1.1250	10	0.52906	T	0.07	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	219;234;209;219;184;244;244	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	T	219;244;234;184;184;244;230;219;128;219;199;219;184	ENSP00000368551:P219T;ENSP00000368566:P244T;ENSP00000368574:P234T;ENSP00000349608:P184T;ENSP00000368557:P184T;ENSP00000296869:P244T;ENSP00000368548:P230T;ENSP00000368546:P219T;ENSP00000445154:P128T;ENSP00000368542:P219T;ENSP00000413329:P199T;ENSP00000442124:P219T;ENSP00000397507:P184T	ENSP00000296869:P244T	P	-	1	0	ACSL6	131351741	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	9.687000	0.98667	2.811000	0.96726	0.555000	0.69702	CCA		0.562	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		T	131323842	G	T	131323842	3	4	159	1	0	0	0	0	1	0	0	0	181	1174	41	4	1580	4	ACSL6	5	131323842	Missense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08	55895909	131323842	49591418	25	9384											
PCDHA13	56136	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140263639	140263639	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:140263639G>A	ENST00000289272.2	+	1	1786	c.1786G>A	c.(1786-1788)Gcg>Acg	p.A596T	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A596T|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	596	Cadherin 6. {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)	p.A596T(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTGCGCGCGGTGGACGC	0.706																																					Melanoma(147;1739 1852 5500 27947 37288)											1	Substitution - Missense(1)	kidney(1)											62	67	65					5																	140263639		2202	4298	6500	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1786G>A	5.37:g.140263639G>A	ENSP00000289272:p.Ala596Thr		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422154	0.62622	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.61392	0.11;0.11	4.21	4.21	0.49690	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85195	0.5641	H	0.98295	4.195	0.37234	D	0.905811	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.99;0.996;0.998	D	0.92959	0.6387	9	0.87932	D	0	.	16.3687	0.83346	0.0:0.0:1.0:0.0	.	596;596;596	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	T	596	ENSP00000386821:A596T;ENSP00000289272:A596T	ENSP00000289272:A596T	A	+	1	0	PCDHA13	140243823	1.000000	0.71417	0.985000	0.45067	0.423000	0.31445	5.333000	0.65917	2.144000	0.66660	0.655000	0.94253	GCG		0.706	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		A	140263639	G	A	140263639	3	1	159	1	0	0	0	0	1	0	0	0	11525	1087	38	1	1788	1	PCDHA13	5	140263639	Missense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08	8939797	140263639	40651621	26	9385											
RBM27	54439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145610355	145610355	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:145610355T>C	ENST00000265271.5	+	6	891	c.725T>C	c.(724-726)gTg>gCg	p.V242A	RBM27_ENST00000506502.1_Missense_Mutation_p.V242A	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	242					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V242A(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGTTACTGTGATCGCACCT	0.463																																																1	Substitution - Missense(1)	kidney(1)											141	121	127					5																	145610355		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.725T>C	5.37:g.145610355T>C	ENSP00000265271:p.Val242Ala		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.537360	0.65085	.	.	ENSG00000091009	ENST00000265271	T	0.48522	0.81	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.49201	0.1543	L	0.59436	1.845	0.58432	D	0.999999	P;D	0.55605	0.93;0.972	P;P	0.49085	0.482;0.6	T	0.48885	-0.8995	10	0.06757	T	0.87	-7.8814	15.5301	0.75952	0.0:0.0:0.0:1.0	.	242;242	Q9P2N5;B3KY61	RBM27_HUMAN;.	A	242	ENSP00000265271:V242A	ENSP00000265271:V242A	V	+	2	0	RBM27	145590548	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.237000	0.65360	2.071000	0.62044	0.460000	0.39030	GTG		0.463	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		C	145610355	T	C	145610355	3	2	159	1	0	0	0	0	1	0	0	0	13133	1696	59	3	747	3	RBM27	5	145610355	Missense_Mutation	SNP	T	TCGA-B0-4842-01A-02D-1421-08	5346716	145610355	35304905	27	9386	76	2									
RBM27	54439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145610357	145610357	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr5:145610357A>T	ENST00000265271.5	+	6	893	c.727A>T	c.(727-729)Atc>Ttc	p.I243F	RBM27_ENST00000506502.1_Missense_Mutation_p.I243F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	243					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I243F(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTACTGTGATCGCACCTGC	0.463																																																1	Substitution - Missense(1)	kidney(1)											142	122	128					5																	145610357		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.727A>T	5.37:g.145610357A>T	ENSP00000265271:p.Ile243Phe		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.031690	0.54790	.	.	ENSG00000091009	ENST00000265271	T	0.47528	0.84	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	L	0.55481	1.735	0.47214	D	0.99935	P;D	0.60160	0.838;0.987	B;P	0.53912	0.218;0.737	T	0.46247	-0.9205	10	0.12430	T	0.62	-8.8832	11.455	0.50176	0.9278:0.0:0.0722:0.0	.	243;243	Q9P2N5;B3KY61	RBM27_HUMAN;.	F	243	ENSP00000265271:I243F	ENSP00000265271:I243F	I	+	1	0	RBM27	145590550	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.151000	0.50670	2.071000	0.62044	0.460000	0.39030	ATC		0.463	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		T	145610357	A	T	145610357	3	4	159	1	0	0	0	0	1	0	0	0	13133	333	12	5	749	5	RBM27	5	145610357	Missense_Mutation	SNP	A	TCGA-B0-4842-01A-02D-1421-08	2	145610357	35304903	28	9387	76	2									
HLA-E	3133	broad.mit.edu;hgsc.bcm.edu	37	6	30457316	30457316	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr6:30457316A>G	ENST00000376630.4	+	1	73	c.8A>G	c.(7-9)gAt>gGt	p.D3G		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	3					antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)	p.D3G(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						ATCATGGTAGATGGAACCCTC	0.582																																																1	Substitution - Missense(1)	kidney(1)											78	83	81					6																	30457316		2203	4300	6503	SO:0001583	missense	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.8A>G	6.37:g.30457316A>G	ENSP00000365817:p.Asp3Gly		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	a	4.087	0.014150	0.07959	.	.	ENSG00000204592	ENST00000376630	T	0.00662	5.93	0.885	-1.77	0.07982	.	2412.190000	0.00669	U	0.000627	T	0.00144	0.0004	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50118	-0.8865	10	0.87932	D	0	.	0.0901	0.00039	0.2534:0.237:0.2464:0.2631	.	3	Q6DU44	.	G	3	ENSP00000365817:D3G	ENSP00000365817:D3G	D	+	2	0	HLA-E	30565295	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.899000	0.04101	-1.716000	0.01387	-1.112000	0.02068	GAT		0.582	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		G	30457316	A	G	30457316	3	3	159	1	0	0	0	0	1	0	0	0	7212	333	12	3	10	3	HLA-E	6	30457316	Missense_Mutation	SNP	A	TCGA-B0-4842-01A-02D-1421-08		30457316	140657751	29	9388											
ABRA	137735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	107773573	107773573	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr8:107773573G>A	ENST00000311955.3	-	2	892	c.838C>T	c.(838-840)Cac>Tac	p.H280Y		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.H280Y(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TCTCCTTTGTGTAGGCGGGTG	0.517																																																1	Substitution - Missense(1)	kidney(1)											109	94	99					8																	107773573		2203	4300	6503	SO:0001583	missense	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.838C>T	8.37:g.107773573G>A	ENSP00000311436:p.His280Tyr			Missense_Mutation	SNP	ENST00000311955.3	37	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717630	0.89205	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.06	5.16	0.70880	.	0.046407	0.85682	D	0.000000	T	0.73552	0.3601	M	0.65975	2.015	0.58432	D	0.999998	D	0.63880	0.993	P	0.56563	0.801	T	0.76280	-0.3017	9	0.87932	D	0	-23.3133	16.8247	0.85927	0.0:0.0:0.8709:0.1291	.	280	Q8N0Z2	ABRA_HUMAN	Y	280	.	ENSP00000311436:H280Y	H	-	1	0	ABRA	107842749	1.000000	0.71417	0.957000	0.39632	0.821000	0.46438	8.001000	0.88508	2.882000	0.98803	0.655000	0.94253	CAC		0.517	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		A	107773573	G	A	107773573	3	1	159	1	0	0	0	0	1	0	0	0	100	1377	48	2	311	2	ABRA	8	107773573	Missense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08		107773573	38590449	30	9389	77	3									
ABRA	137735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	107773580	107773580	+	Silent	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr8:107773580G>A	ENST00000311955.3	-	2	885	c.831C>T	c.(829-831)acC>acT	p.T277T		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.T277T(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGTGTAGGCGGGTGGACATGG	0.512																																																1	Substitution - coding silent(1)	kidney(1)											110	96	101					8																	107773580		2203	4300	6503	SO:0001819	synonymous_variant	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.831C>T	8.37:g.107773580G>A				Silent	SNP	ENST00000311955.3	37	CCDS6305.1																																																																																				0.512	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		A	107773580	G	A	107773580	2	1	159	1	0	0	0	0	0	0	0	1	100	1219	43	2		2	ABRA	8	107773580	Silent	SNP	G	TCGA-B0-4842-01A-02D-1421-08	7	107773580	38590442	31	9390	77	3									
ABRA	137735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	107773583	107773583	+	Silent	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr8:107773583G>A	ENST00000311955.3	-	2	882	c.828C>T	c.(826-828)tcC>tcT	p.S276S		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.S276S(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTAGGCGGGTGGACATGGCCA	0.517																																																1	Substitution - coding silent(1)	kidney(1)											108	94	99					8																	107773583		2203	4300	6503	SO:0001819	synonymous_variant	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.828C>T	8.37:g.107773583G>A				Silent	SNP	ENST00000311955.3	37	CCDS6305.1																																																																																				0.517	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		A	107773583	G	A	107773583	2	1	159	1	0	0	0	0	0	0	0	1	100	1335	47	2		2	ABRA	8	107773583	Silent	SNP	G	TCGA-B0-4842-01A-02D-1421-08	3	107773583	38590439	32	9391	77	3									
ANKRD20A1	84210	hgsc.bcm.edu	37	9	67938638	67938641	+	Frame_Shift_Del	DEL	TACT	TACT	-	rs28645645		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	TACT	TACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr9:67938638_67938641delTACT	ENST00000377477.2	+	6	885_888	c.773_776delTACT	c.(772-777)atacttfs	p.IL258fs	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	258						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAAAAGAAGATACTTAAAAAGGAG	0.245																																																0																																										SO:0001589	frameshift_variant	84210			AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"Ankyrin repeat domain containing"	23665	protein-coding gene	gene with protein product			"ankyrin repeat domain 20A"	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.773_776delTACT	9.37:g.67938638_67938641delTACT	ENSP00000366697:p.Ile258fs		Q9H0H6	Frame_Shift_Del	DEL	ENST00000377477.2	37	CCDS6620.1																																																																																				0.245	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			-	67938641	TACT	-	67938638	7	5	159	1	0	1	0	1	0	0	0	0	648	1406	49	0	795	0	ANKRD20A1	9	67938638	Frame_Shift_Del	DEL	TACT	TCGA-B0-4842-01A-02D-1421-08		67938638	73274793	33	9392											
TSC1	7248	hgsc.bcm.edu;ucsc.edu	37	9	135782693	135782693	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr9:135782693delC	ENST00000298552.3	-	13	1549	c.1328delG	c.(1327-1329)ggafs	p.G443fs	TSC1_ENST00000545250.1_Frame_Shift_Del_p.G392fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.G443fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	443					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TTTACCTGATCCTCTGTCATT	0.363			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)											145	127	133					9																	135782693		2203	4300	6503	SO:0001589	frameshift_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1328delG	9.37:g.135782693delC	ENSP00000298552:p.Gly443fs		B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	CCDS6956.1																																																																																				0.363	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			-	135782693	C	-	135782693	7	5	159	1	0	1	0	1	0	0	0	0	16610	855	30	0	2210	0	TSC1	9	135782693	Frame_Shift_Del	DEL	C	TCGA-B0-4842-01A-02D-1421-08	67844055	135782693	5430738	34	9393											
OR51F1	256892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4790883	4790883	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr11:4790883A>T	ENST00000380383.1	-	1	285	c.286T>A	c.(286-288)Ttt>Att	p.F96I	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.F89I|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F89I(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGTGCCTCAAACCAGAGGATA	0.428																																																1	Substitution - Missense(1)	kidney(1)											76	73	74					11																	4790883		2201	4298	6499	SO:0001583	missense	256892			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.286T>A	11.37:g.4790883A>T	ENSP00000369744:p.Phe96Ile			Missense_Mutation	SNP	ENST00000380383.1	37		.	.	.	.	.	.	.	.	.	.	a	10.75	1.438561	0.25900	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.02763	4.17;4.17	4.91	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.268827	0.27048	N	0.021197	T	0.06645	0.0170	M	0.89658	3.05	0.26680	N	0.971567	P	0.51147	0.942	B	0.43251	0.413	T	0.35276	-0.9795	10	0.62326	D	0.03	.	3.3022	0.06987	0.6496:0.0:0.1801:0.1703	.	96	A6NGY5	O51F1_HUMAN	I	89;96	ENSP00000345163:F89I;ENSP00000369744:F96I	ENSP00000345163:F89I	F	-	1	0	OR51F1	4747459	0.651000	0.27340	0.996000	0.52242	0.255000	0.26057	1.199000	0.32235	0.914000	0.36822	-0.369000	0.07265	TTT		0.428	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		T	4790883	A	T	4790883	3	4	159	1	0	0	0	0	1	0	0	0	11098	43	2	5	676	5	OR51F1	11	4790883	Missense_Mutation	SNP	A	TCGA-B0-4842-01A-02D-1421-08		4790883	130215633	35	9394											
NELL1	4745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	21250960	21250960	+	Silent	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr11:21250960C>T	ENST00000357134.5	+	14	1661	c.1509C>T	c.(1507-1509)acC>acT	p.T503T	NELL1_ENST00000298925.5_Silent_p.T531T|NELL1_ENST00000532434.1_Silent_p.T503T|NELL1_ENST00000325319.5_Silent_p.T446T	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	503	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.T503T(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACAGCTGCACCTGCAAACCGG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											108	77	88					11																	21250960		2203	4300	6503	SO:0001819	synonymous_variant	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1509C>T	11.37:g.21250960C>T			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	CCDS7855.1																																																																																				0.572	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		T	21250960	C	T	21250960	2	4	159	1	0	0	0	0	0	0	0	1	10335	668	24	2		2	NELL1	11	21250960	Silent	SNP	C	TCGA-B0-4842-01A-02D-1421-08	16460077	21250960	113755556	36	9395											
LARP4	113251	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50821653	50821653	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr12:50821653T>A	ENST00000398473.2	+	2	239	c.127T>A	c.(127-129)Tgg>Agg	p.W43R	LARP4_ENST00000347328.5_Missense_Mutation_p.W43R|LARP4_ENST00000518444.1_Missense_Mutation_p.W42R|LARP4_ENST00000518561.1_5'UTR|LARP4_ENST00000293618.8_Missense_Mutation_p.W43R|LARP4_ENST00000429001.3_Missense_Mutation_p.W43R|LARP4_ENST00000522085.1_Missense_Mutation_p.W43R	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	43					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.W43R(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TGAAAGCTCTTGGCATGAAAT	0.398																																																1	Substitution - Missense(1)	kidney(1)											94	88	90					12																	50821653		1865	4103	5968	SO:0001583	missense	113251			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.127T>A	12.37:g.50821653T>A	ENSP00000381490:p.Trp43Arg		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438936	0.83885	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000548174;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000520064;ENST00000347328;ENST00000550260	T;T;T;T;T;T	0.58210	1.05;0.79;0.86;0.35;0.9;0.97	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	M	0.69823	2.125	0.48901	D	0.999727	D;D;P;D;D	0.89917	1.0;0.999;0.569;1.0;1.0	D;D;P;D;D	0.97110	0.999;0.997;0.55;0.999;1.0	T	0.74799	-0.3542	10	0.87932	D	0	.	14.0867	0.64962	0.0:0.0:0.0:1.0	.	42;43;43;43;43	Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	R	43;43;51;43;43;43;42;43;42;43;42	ENSP00000293618:W43R;ENSP00000415464:W43R;ENSP00000381490:W43R;ENSP00000429781:W43R;ENSP00000429077:W42R;ENSP00000340901:W43R	ENSP00000293618:W43R	W	+	1	0	LARP4	49107920	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.452000	0.60054	2.126000	0.65437	0.533000	0.62120	TGG		0.398	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		A	50821653	T	A	50821653	3	1	159	1	0	0	0	0	1	0	0	0	8632	1812	63	5	133	5	LARP4	12	50821653	Missense_Mutation	SNP	T	TCGA-B0-4842-01A-02D-1421-08		50821653	83030242	37	9396											
LETMD1	25875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51450212	51450212	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr12:51450212C>G	ENST00000262055.4	+	7	881	c.842C>G	c.(841-843)aCt>aGt	p.T281S	LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.T225S|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000552739.1_Missense_Mutation_p.T164S|LETMD1_ENST00000547008.1_Missense_Mutation_p.T157S|LETMD1_ENST00000418425.2_Missense_Mutation_p.T294S	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	281	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.T281S(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ACTCATACAACTGTGATTCAC	0.488																																																1	Substitution - Missense(1)	kidney(1)											143	127	133					12																	51450212		2203	4300	6503	SO:0001583	missense	25875			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.842C>G	12.37:g.51450212C>G	ENSP00000262055:p.Thr281Ser		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	2.899|2.899|2.899	-0.228013|-0.228013|-0.228013	0.06022|0.06022|0.06022	.|.|.	.|.|.	ENSG00000050426|ENSG00000050426|ENSG00000050426	ENST00000551931|ENST00000553043|ENST00000551477;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000548251;ENST00000550814;ENST00000547660;ENST00000418425;ENST00000448283;ENST00000547008;ENST00000552739;ENST00000547256	.|.|T;T;T;T;T;T;T;T;T	.|.|0.40756	.|.|1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.49|5.49|5.49	3.66|3.66|3.66	0.41972|0.41972|0.41972	.|.|LETM1-like (1);	.|.|0.688768	.|.|0.15028	.|.|N	.|.|0.284649	T|T|T	0.30665|0.30665|0.30665	0.0772|0.0772|0.0772	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.21499|0.21499|0.21499	N|N|N	0.99967|0.99967|0.99967	.|B;B|B;B;P;B;B	.|0.18610|0.48089	.|0.029;0.022|0.328;0.125;0.905;0.274;0.125	.|B;B|B;B;P;B;B	.|0.13407|0.45276	.|0.009;0.008|0.085;0.183;0.475;0.16;0.119	T|T|T	0.06789|0.06789|0.06789	-1.0807|-1.0807|-1.0807	5|8|10	.|0.87932|0.16896	.|D|T	.|0|0.51	-1.2913|-1.2913|-1.2913	4.6194|4.6194|4.6194	0.12442|0.12442|0.12442	0.0:0.5955:0.1688:0.2357|0.0:0.5955:0.1688:0.2357|0.0:0.5955:0.1688:0.2357	.|.|.	.|118;118|231;294;157;164;281	.|B7Z9A7;F8W6J0|F8VVQ3;B3KXK7;F8W1Z2;F8VP71;Q6P1Q0	.|.;.|.;.;.;.;LTMD1_HUMAN	V|K|S	65|49|248;225;281;231;164;89;36;294;231;157;164;63	.|.|ENSP00000446862:T248S;ENSP00000450163:T225S;ENSP00000262055:T281S;ENSP00000449896:T231S;ENSP00000447166:T164S;ENSP00000450391:T36S;ENSP00000389903:T294S;ENSP00000447419:T157S;ENSP00000450333:T164S	.|ENSP00000369478:N118K|ENSP00000262055:T281S	L|N|T	+|+|+	1|3|2	2|2|0	LETMD1|LETMD1|LETMD1	49736479|49736479|49736479	0.027000|0.027000|0.027000	0.19231|0.19231|0.19231	0.943000|0.943000|0.943000	0.38184|0.38184|0.38184	0.021000|0.021000|0.021000	0.10359|0.10359|0.10359	0.386000|0.386000|0.386000	0.20702|0.20702|0.20702	1.473000|1.473000|1.473000	0.48159|0.48159|0.48159	-0.140000|-0.140000|-0.140000	0.14226|0.14226|0.14226	CTG|AAC|ACT		0.488	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		G	51450212	C	G	51450212	3	3	159	1	0	0	0	0	1	0	0	0	8738	565	20	4	868	4	LETMD1	12	51450212	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08	628559	51450212	82401683	38	9397											
DNAH10	196385	broad.mit.edu;hgsc.bcm.edu	37	12	124371778	124371778	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr12:124371778C>G	ENST00000409039.3	+	51	8584	c.8559C>G	c.(8557-8559)aaC>aaG	p.N2853K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2853	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N2853K(1)|p.N1445K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATTGAGAACAAAGCGATGA	0.532																																																2	Substitution - Missense(2)	kidney(2)											63	65	64					12																	124371778		1964	4158	6122	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8559C>G	12.37:g.124371778C>G	ENSP00000386770:p.Asn2853Lys		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	7.755	0.704143	0.15172	.	.	ENSG00000197653	ENST00000409039	T	0.53857	0.6	5.02	4.12	0.48240	Dynein heavy chain, P-loop containing D4 domain (1);	0.064498	0.64402	U	0.000013	T	0.48995	0.1531	M	0.69823	2.125	0.41689	D	0.989337	B	0.28128	0.201	B	0.32090	0.14	T	0.41538	-0.9503	10	0.21014	T	0.42	.	8.2051	0.31449	0.0:0.7083:0.0:0.2917	.	2853	Q8IVF4	DYH10_HUMAN	K	2853	ENSP00000386770:N2853K	ENSP00000386770:N2853K	N	+	3	2	DNAH10	122937731	1.000000	0.71417	0.997000	0.53966	0.231000	0.25187	0.745000	0.26259	1.328000	0.45358	0.591000	0.81541	AAC		0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			G	124371778	C	G	124371778	3	3	159	1	0	0	0	0	1	0	0	0	4600	477	17	4	8761	4	DNAH10	12	124371778	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08	72921566	124371778	9480117	39	9398											
KLHL1	57626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	70681442	70681442	+	Silent	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr13:70681442C>A	ENST00000377844.4	-	1	1149	c.390G>T	c.(388-390)gtG>gtT	p.V130V	ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	130					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.V130V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCATGCCTGGCACCACCTCCT	0.582																																																1	Substitution - coding silent(1)	kidney(1)											97	79	85					13																	70681442		2203	4300	6503	SO:0001819	synonymous_variant	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.390G>T	13.37:g.70681442C>A			A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	CCDS9445.1																																																																																				0.582	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		A	70681442	C	A	70681442	2	1	159	1	0	0	0	0	0	0	0	1	8367	697	25	4		4	KLHL1	13	70681442	Silent	SNP	C	TCGA-B0-4842-01A-02D-1421-08		70681442	44488436	40	9399											
MEFV	4210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3304667	3304667	+	Missense_Mutation	SNP	G	G	A	rs377250147		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr16:3304667G>A	ENST00000219596.1	-	2	440	c.401C>T	c.(400-402)cCg>cTg	p.P134L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	134					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.P134L(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GCCCCCGTACGGCCGAGGGCC	0.692																																																1	Substitution - Missense(1)	kidney(1)						G	,LEU/PRO	1,4357		0,1,2178	16	18	18		,401	0.6	0	16		18	0,8522		0,0,4261	no	intron,missense	MEFV	NM_001198536.1,NM_000243.2	,98	0,1,6439	AA,AG,GG		0.0,0.0229,0.0078	,benign	,134/782	3304667	1,12879	2179	4261	6440	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.401C>T	16.37:g.3304667G>A	ENSP00000219596:p.Pro134Leu		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347675	0.24426	2.29E-4	0.0	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.62941	-0.01	4.08	0.61	0.17580	.	0.440226	0.19374	N	0.115839	T	0.33030	0.0849	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.14578	0.011	T	0.11567	-1.0582	10	0.33940	T	0.23	-15.6301	4.9534	0.14027	0.0:0.1027:0.3087:0.5887	.	134	O15553	MEFV_HUMAN	L	134	ENSP00000219596:P134L	ENSP00000219596:P134L	P	-	2	0	MEFV	3244668	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.448000	0.21726	0.065000	0.16485	-0.470000	0.05040	CCG		0.692	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		A	3304667	G	A	3304667	3	1	159	1	0	0	0	0	1	0	0	0	9461	1116	39	1	1980	1	MEFV	16	3304667	Missense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08		3304667	87050086	41	9400											
MVP	9961	broad.mit.edu	37	16	29853112	29853112	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr16:29853112C>A	ENST00000357402.5	+	9	1525	c.1387C>A	c.(1387-1389)Ccc>Acc	p.P463T	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.P463T	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	463					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.P463T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTACCGCGTGCCCCACAACGC	0.662																																																1	Substitution - Missense(1)	kidney(1)											46	41	43					16																	29853112		2197	4300	6497	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1387C>A	16.37:g.29853112C>A	ENSP00000349977:p.Pro463Thr		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160328	0.78226	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.39592	1.07;1.07	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.73768	0.3629	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79415	-0.1813	10	0.72032	D	0.01	-16.8814	17.825	0.88662	0.0:1.0:0.0:0.0	.	463	Q14764	MVP_HUMAN	T	463	ENSP00000349977:P463T;ENSP00000378760:P463T	ENSP00000349977:P463T	P	+	1	0	MVP	29760613	1.000000	0.71417	0.181000	0.23098	0.377000	0.30045	6.447000	0.73465	2.797000	0.96272	0.655000	0.94253	CCC		0.662	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		A	29853112	C	A	29853112	3	1	159	1	0	0	0	0	1	0	0	0	9998	739	26	4	1417	4	MVP	16	29853112	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08	26548445	29853112	60501641	42	9401											
ZNF646	9726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31087733	31087733	+	Missense_Mutation	SNP	C	C	G	rs201805037	byFrequency	TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr16:31087733C>G	ENST00000394979.2	+	1	511	c.88C>G	c.(88-90)Ctc>Gtc	p.L30V	ZNF668_ENST00000538906.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.L30V|ZNF668_ENST00000300849.4_5'Flank|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000394983.2_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L30V(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCGAGAACTGCTCCATCCATC	0.647																																																1	Substitution - Missense(1)	kidney(1)											110	97	102					16																	31087733		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.88C>G	16.37:g.31087733C>G	ENSP00000378429:p.Leu30Val		Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	C	16.50	3.141177	0.56936	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.08370	3.39;3.1;3.13	5.9	5.9	0.94986	.	.	.	.	.	T	0.14141	0.0342	N	0.24115	0.695	0.25379	N	0.988631	D	0.53619	0.961	P	0.54590	0.756	T	0.19031	-1.0318	9	0.35671	T	0.21	-4.8001	17.7661	0.88478	0.0:1.0:0.0:0.0	.	30	O15015-2	.	V	30	ENSP00000391271:L30V;ENSP00000300850:L30V;ENSP00000378429:L30V	ENSP00000300850:L30V	L	+	1	0	ZNF646	30995234	0.991000	0.36638	1.000000	0.80357	0.883000	0.51084	2.543000	0.45752	2.793000	0.96121	0.563000	0.77884	CTC		0.647	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		G	31087733	C	G	31087733	3	3	159	1	0	0	0	0	1	0	0	0	18067	797	28	4	90	4	ZNF646	16	31087733	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08	1234621	31087733	59267020	43	9402											
PDP2	57546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66919397	66919397	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr16:66919397G>A	ENST00000311765.2	+	2	1544	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	PDP2_ENST00000568720.1_Intron|RP11-61A14.2_ENST00000561475.1_lincRNA	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	404					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.D404N(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GAGGCCCCAGGATAAGTTCCT	0.582																																																1	Substitution - Missense(1)	kidney(1)											113	101	105					16																	66919397		2200	4300	6500	SO:0001583	missense	57546			AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	30263	protein-coding gene	gene with protein product	"protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.1210G>A	16.37:g.66919397G>A	ENSP00000309548:p.Asp404Asn		A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833657	0.91036	.	.	ENSG00000172840	ENST00000311765	T	0.26067	1.76	5.65	5.65	0.86999	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65965	-0.6040	10	0.59425	D	0.04	-17.2222	19.7268	0.96166	0.0:0.0:1.0:0.0	.	404	Q9P2J9	PDP2_HUMAN	N	404	ENSP00000309548:D404N	ENSP00000309548:D404N	D	+	1	0	PDP2	65476898	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.843000	0.99491	2.676000	0.91093	0.563000	0.77884	GAT		0.582	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		A	66919397	G	A	66919397	3	1	159	1	0	0	0	0	1	0	0	0	11688	1174	41	2	1212	2	PDP2	16	66919397	Missense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08	35831664	66919397	23435356	44	9403											
INPP5K	51763	hgsc.bcm.edu	37	17	1401343	1401344	+	Frame_Shift_Ins	INS	-	-	G	rs149283703		TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr17:1401343_1401344insG	ENST00000421807.2	-	8	1237_1238	c.849_850insC	c.(847-852)cccgacfs	p.D284fs	INPP5K_ENST00000397335.3_Frame_Shift_Ins_p.D192fs|INPP5K_ENST00000542125.1_Frame_Shift_Ins_p.D188fs|INPP5K_ENST00000320345.6_Frame_Shift_Ins_p.D208fs|INPP5K_ENST00000406424.4_Frame_Shift_Ins_p.D208fs	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	284	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						ATGGGAGTGTCGGGGCCAGCAC	0.614																																																0									,,	4,4260		0,4,2128					,,	-8.4	0			115	15,8237		0,15,4111	no	frameshift,frameshift,frameshift	INPP5K	NM_130766.2,NM_016532.3,NM_001135642.1	,,	0,19,6239	A1A1,A1R,RR		0.1818,0.0938,0.1518	,,	,,		19,12497				SO:0001589	frameshift_variant	51763				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"skeletal muscle and kidney enriched inositol phosphatase"	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.850dupC	17.37:g.1401347_1401347dupG	ENSP00000413937:p.Asp284fs		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Frame_Shift_Ins	INS	ENST00000421807.2	37	CCDS11004.1																																																																																				0.614	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			G	1401344	-	G	1401343	7	5	159	1	0	1	1	0	0	0	0	0	7762	884	31	0	516	0	INPP5K	17	1401343	Frame_Shift_Ins	INS	-	TCGA-B0-4842-01A-02D-1421-08		1401343	79793867	45	9404											
ASGR2	433	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7010447	7010447	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr17:7010447C>A	ENST00000380952.2	-	7	799	c.535G>T	c.(535-537)Gtc>Ttc	p.V179F	ASGR2_ENST00000254850.7_Missense_Mutation_p.V155F|ASGR2_ENST00000446679.2_Missense_Mutation_p.V160F|ASGR2_ENST00000355035.5_Missense_Mutation_p.V179F	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	179	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)	p.V179F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCCAGTTGACGGGGCAGCAG	0.662																																																1	Substitution - Missense(1)	kidney(1)											79	75	76					17																	7010447		2203	4300	6503	SO:0001583	missense	433			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.535G>T	17.37:g.7010447C>A	ENSP00000370339:p.Val179Phe		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588127	0.28268	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	4.45	0.559	0.17272	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.193267	0.25487	N	0.030327	T	0.18800	0.0451	L	0.37630	1.12	0.09310	N	1	D;P;P;D;P	0.60575	0.988;0.905;0.77;0.974;0.955	P;P;P;P;P	0.60068	0.868;0.692;0.562;0.746;0.692	T	0.07046	-1.0793	10	0.37606	T	0.19	.	2.3379	0.04252	0.1736:0.4643:0.2495:0.1127	.	155;179;174;160;179	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	F	179;155;179;160	ENSP00000347140:V179F;ENSP00000254850:V155F;ENSP00000370339:V179F;ENSP00000405844:V160F	ENSP00000254850:V155F	V	-	1	0	ASGR2	6951171	0.000000	0.05858	0.109000	0.21407	0.052000	0.14988	-1.024000	0.03603	0.400000	0.25396	-0.170000	0.13304	GTC		0.662	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		A	7010447	C	A	7010447	3	1	159	1	0	0	0	0	1	0	0	0	1040	536	19	4	412	4	ASGR2	17	7010447	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08	5609104	7010447	74184763	46	9405											
NCOR1	9611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15964798	15964798	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr17:15964798A>G	ENST00000268712.3	-	37	6055	c.5798T>C	c.(5797-5799)aTa>aCa	p.I1933T	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.I517T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1933	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.I1933T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GATCACGTCTATGAAGTTAGC	0.478																																																1	Substitution - Missense(1)	kidney(1)											304	278	287					17																	15964798		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5798T>C	17.37:g.15964798A>G	ENSP00000268712:p.Ile1933Thr		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.490693	0.84962	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.56275	0.47;0.47	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.72676	0.3490	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.997;0.994;0.999;1.0	D;D;D;D	0.87578	0.993;0.985;0.991;0.998	T	0.75642	-0.3247	10	0.66056	D	0.02	-11.622	15.4474	0.75240	1.0:0.0:0.0:0.0	.	743;1837;1933;453	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	T	1933;1837;517	ENSP00000268712:I1933T;ENSP00000379198:I517T	ENSP00000268712:I1933T	I	-	2	0	NCOR1	15905523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.901000	0.92560	2.247000	0.74100	0.528000	0.53228	ATA		0.478	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		G	15964798	A	G	15964798	3	3	159	1	0	0	0	0	1	0	0	0	10237	449	16	3	1564	3	NCOR1	17	15964798	Missense_Mutation	SNP	A	TCGA-B0-4842-01A-02D-1421-08	8954351	15964798	65230412	47	9406											
HEXDC	284004	broad.mit.edu;ucsc.edu	37	17	80394586	80394586	+	Silent	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr17:80394586C>T	ENST00000327949.9	+	6	686	c.675C>T	c.(673-675)taC>taT	p.Y225Y	HEXDC_ENST00000337014.6_Silent_p.Y225Y|HEXDC_ENST00000577944.1_Silent_p.Y225Y			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	225					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)	p.Y225Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCTGGGACTACACGGCCGACC	0.657																																																1	Substitution - coding silent(1)	kidney(1)											70	83	78					17																	80394586		2150	4269	6419	SO:0001819	synonymous_variant	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.675C>T	17.37:g.80394586C>T			B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37																																																																																					0.657	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		T	80394586	C	T	80394586	2	4	159	1	0	0	0	0	0	0	0	1	7077	489	17	2		2	HEXDC	17	80394586	Silent	SNP	C	TCGA-B0-4842-01A-02D-1421-08	64429788	80394586	800624	48	9407											
RTTN	25914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	67776858	67776858	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr18:67776858A>G	ENST00000255674.6	-	28	4065	c.3779T>C	c.(3778-3780)cTg>cCg	p.L1260P	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.L1260P	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1260					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L1260P(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAGGGACGGCAGGCCATAGAA	0.517																																																1	Substitution - Missense(1)	kidney(1)											73	74	74					18																	67776858		1974	4160	6134	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3779T>C	18.37:g.67776858A>G	ENSP00000255674:p.Leu1260Pro		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207914	0.79240	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.63744	-0.06;-0.06	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000002	T	0.77909	0.4201	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80781	-0.1229	10	0.72032	D	0.01	.	14.8771	0.70501	1.0:0.0:0.0:0.0	.	1260	Q86VV8	RTTN_HUMAN	P	1260	ENSP00000255674:L1260P;ENSP00000399520:L1260P	ENSP00000255674:L1260P	L	-	2	0	RTTN	65927838	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.771000	0.85420	1.917000	0.55516	0.460000	0.39030	CTG		0.517	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		G	67776858	A	G	67776858	3	3	159	1	0	0	0	0	1	0	0	0	13743	188	7	3	2989	3	RTTN	18	67776858	Missense_Mutation	SNP	A	TCGA-B0-4842-01A-02D-1421-08		67776858	10300390	49	9408											
CSNK1G2	1455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1980183	1980183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr19:1980183C>A	ENST00000255641.8	+	12	1724	c.1229C>A	c.(1228-1230)tCg>tAg	p.S410*		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	410					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)	p.S410*(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGAAAATCGCTGCAGCGA	0.662																																					Ovarian(91;880 1392 21236 36928 37598)											1	Substitution - Nonsense(1)	kidney(1)											53	55	54					19																	1980183		2203	4300	6503	SO:0001587	stop_gained	1455			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.1229C>A	19.37:g.1980183C>A	ENSP00000255641:p.Ser410*		B5BU42|O00704|Q8WUB1	Nonsense_Mutation	SNP	ENST00000255641.8	37	CCDS12077.1	.	.	.	.	.	.	.	.	.	.	.	40	8.426199	0.98806	.	.	ENSG00000133275	ENST00000255641	.	.	.	4.52	3.4	0.38934	.	0.488453	0.19072	U	0.123472	.	.	.	.	.	.	0.40149	D	0.976926	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0155	0.47687	0.0:0.8106:0.1894:0.0	.	.	.	.	X	410	.	ENSP00000255641:S410X	S	+	2	0	CSNK1G2	1931183	0.982000	0.34865	0.743000	0.31040	0.660000	0.38997	3.185000	0.50934	2.053000	0.61076	0.462000	0.41574	TCG		0.662	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1	NM_001319		A	1980183	C	A	1980183	4	1	159	1	0	0	0	0	0	1	0	0	3957	893	31	4	1271	4	CSNK1G2	19	1980183	Nonsense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08		1980183	57148800	50	9409											
ZNF91	7644	broad.mit.edu;hgsc.bcm.edu	37	19	23543382	23543382	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr19:23543382C>T	ENST00000300619.7	-	4	2604	c.2399G>A	c.(2398-2400)tGt>tAt	p.C800Y	ZNF91_ENST00000397082.2_Missense_Mutation_p.C768Y|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	800					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C800Y(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTCTTCACATTTGTAGGG	0.393																																																1	Substitution - Missense(1)	kidney(1)											64	69	67					19																	23543382		2179	4283	6462	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2399G>A	19.37:g.23543382C>T	ENSP00000300619:p.Cys800Tyr		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295369	0.40594	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	D;D	0.85088	-1.94;-1.94	1.52	1.52	0.23074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93006	0.7774	M	0.93594	3.435	0.40082	D	0.976143	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92946	0.6376	9	0.87932	D	0	.	9.9557	0.41666	0.0:1.0:0.0:0.0	.	768;800	Q05481-2;Q05481	.;ZNF91_HUMAN	Y	800;768	ENSP00000300619:C800Y;ENSP00000380272:C768Y	ENSP00000300619:C800Y	C	-	2	0	ZNF91	23335222	0.987000	0.35691	0.115000	0.21578	0.107000	0.19398	3.702000	0.54800	0.798000	0.33994	0.205000	0.17691	TGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		T	23543382	C	T	23543382	3	4	159	1	0	0	0	0	1	0	0	0	18205	478	17	2	1180	2	ZNF91	19	23543382	Missense_Mutation	SNP	C	TCGA-B0-4842-01A-02D-1421-08	21563199	23543382	35585601	51	9410											
DMPK	1760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46281778	46281778	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr19:46281778G>A	ENST00000291270.4	-	5	679	c.554C>T	c.(553-555)tCg>tTg	p.S185L	DMPK_ENST00000600757.1_Missense_Mutation_p.S195L|DMPK_ENST00000343373.4_Missense_Mutation_p.S195L|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000447742.2_Missense_Mutation_p.S185L|DMPK_ENST00000458663.2_Missense_Mutation_p.S185L|DMPK_ENST00000354227.5_Missense_Mutation_p.S185L	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)	p.S195L(1)|p.S185L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCGGTGCACCGAGTCTATGGC	0.627																																					Esophageal Squamous(35;307 869 9153 24033 28903)											2	Substitution - Missense(2)	kidney(2)											72	66	68					19																	46281778		2203	4300	6503	SO:0001583	missense	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.554C>T	19.37:g.46281778G>A	ENSP00000291270:p.Ser185Leu		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	g	36	5.601829	0.96614	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37393	N	0.002120	T	0.73753	0.3627	L	0.46947	1.48	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.95;0.999;0.999;0.998;0.996;1.0;0.996;1.0	T	0.76094	-0.3085	10	0.87932	D	0	.	15.7624	0.78096	0.0:0.0:1.0:0.0	.	185;185;211;185;185;185;232;195	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	L	185;211;185;185;185;195;195;185	ENSP00000401753:S185L;ENSP00000291270:S185L;ENSP00000413417:S185L;ENSP00000345997:S195L;ENSP00000346168:S185L	ENSP00000291270:S185L	S	-	2	0	DMPK	50973618	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	9.308000	0.96247	2.579000	0.87056	0.655000	0.94253	TCG		0.627	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		A	46281778	G	A	46281778	3	1	159	1	0	0	0	0	1	0	0	0	4586	1059	37	1	1386	1	DMPK	19	46281778	Missense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08	22738396	46281778	12847205	52	9411											
CACNA1I	8911	broad.mit.edu;ucsc.edu	37	22	40075845	40075845	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr22:40075845G>A	ENST00000402142.3	+	33	5513	c.5513G>A	c.(5512-5514)tGc>tAc	p.C1838Y	CACNA1I_ENST00000404898.1_Missense_Mutation_p.C1803Y|CACNA1I_ENST00000336649.4_Missense_Mutation_p.C1844Y|CACNA1I_ENST00000407673.1_Missense_Mutation_p.C1803Y|CACNA1I_ENST00000401624.1_Missense_Mutation_p.C1838Y|CACNA1I_ENST00000400164.3_Missense_Mutation_p.C1803Y	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1838					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.C1838Y(1)|p.C1803Y(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGCCGGCTGCAAGAAGTGT	0.612																																																2	Substitution - Missense(2)	kidney(2)											36	40	39					22																	40075845		2029	4184	6213	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5513G>A	22.37:g.40075845G>A	ENSP00000385019:p.Cys1838Tyr		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	g	6.941	0.543442	0.13250	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97430	-4.36;-4.33;-4.29;-4.25;-4.38;-4.3	4.13	1.89	0.25635	.	1.713560	0.03567	N	0.227921	D	0.96661	0.8910	M	0.62723	1.935	0.35331	D	0.785666	B;B;P;P	0.42620	0.207;0.4;0.785;0.679	B;B;P;B	0.48063	0.221;0.221;0.565;0.362	D	0.88675	0.3198	10	0.18276	T	0.48	.	9.6877	0.40109	0.1824:0.0:0.8176:0.0	.	1803;1838;1803;1838	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Y	1838;1803;1838;1803;1844;1803	ENSP00000385019:C1838Y;ENSP00000384093:C1803Y;ENSP00000383887:C1838Y;ENSP00000385680:C1803Y;ENSP00000337829:C1844Y;ENSP00000383028:C1803Y	ENSP00000337829:C1844Y	C	+	2	0	CACNA1I	38405791	1.000000	0.71417	0.041000	0.18516	0.000000	0.00434	6.289000	0.72696	0.265000	0.21872	-1.163000	0.01768	TGC		0.612	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		A	40075845	G	A	40075845	3	1	159	1	0	0	0	0	1	0	0	0	2548	1319	46	2	5643	2	CACNA1I	22	40075845	Missense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08		40075845	11228721	53	9412											
ALG12	79087	hgsc.bcm.edu	37	22	50297496	50297497	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chr22:50297496_50297497insG	ENST00000330817.6	-	10	1729_1730	c.1456_1457insC	c.(1456-1458)cggfs	p.R486fs	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	486					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGGACGGCCGGGGGAGCCTC	0.594																																																0																																										SO:0001589	frameshift_variant	79087			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1457dupC	22.37:g.50297501_50297501dupG	ENSP00000333813:p.Arg486fs		A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Frame_Shift_Ins	INS	ENST00000330817.6	37	CCDS14081.1																																																																																				0.594	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		G	50297497	-	G	50297496	7	5	159	1	0	1	1	0	0	0	0	0	514	652	23	0	13	0	ALG12	22	50297496	Frame_Shift_Ins	INS	-	TCGA-B0-4842-01A-02D-1421-08	10221651	50297496	1007070	54	9413											
SH3KBP1	30011	hgsc.bcm.edu	37	X	19560246	19560247	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chrX:19560246_19560247insG	ENST00000397821.3	-	16	1978_1979	c.1688_1689insC	c.(1687-1689)ccafs	p.P563fs	SH3KBP1_ENST00000541422.1_Frame_Shift_Ins_p.P302fs|SH3KBP1_ENST00000379716.1_Frame_Shift_Ins_p.P325fs|SH3KBP1_ENST00000379698.4_Frame_Shift_Ins_p.P526fs	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	563					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACAGAGGGGCTGGCCCACCGCC	0.653																																																0																																										SO:0001589	frameshift_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1689dupC	X.37:g.19560248_19560248dupG	ENSP00000380921:p.Pro563fs		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Frame_Shift_Ins	INS	ENST00000397821.3	37	CCDS14193.1																																																																																				0.653	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		G	19560247	-	G	19560246	7	5	159	1	0	1	1	0	0	0	0	0	14261	1567	55	0	320	0	SH3KBP1	23	19560246	Frame_Shift_Ins	INS	-	TCGA-B0-4842-01A-02D-1421-08		19560246	135710314	55	9414											
TAF1	6872	broad.mit.edu;hgsc.bcm.edu	37	X	70613248	70613248	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chrX:70613248G>A	ENST00000373790.4	+	21	3197	c.3146G>A	c.(3145-3147)cGt>cAt	p.R1049H	TAF1_ENST00000449580.1_Missense_Mutation_p.R1049H|TAF1_ENST00000276072.3_Missense_Mutation_p.R1070H|TAF1_ENST00000423759.1_Missense_Mutation_p.R1070H	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1049					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R1049H(1)|p.R1070H(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAATTTGCCCGTGGATCAAGG	0.483																																																2	Substitution - Missense(2)	kidney(2)											117	105	109					X																	70613248		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3146G>A	X.37:g.70613248G>A	ENSP00000362895:p.Arg1049His		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	34	5.302956	0.95601	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.18016	2.26;2.35;2.29;2.24	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.56080	-0.8038	10	0.87932	D	0	.	18.8318	0.92143	0.0:0.0:1.0:0.0	.	1049;1049;1070	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	H	1049;1049;1070;1070	ENSP00000362895:R1049H;ENSP00000389000:R1049H;ENSP00000406549:R1070H;ENSP00000276072:R1070H	ENSP00000276072:R1070H	R	+	2	0	TAF1	70529973	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	9.209000	0.95087	2.394000	0.81467	0.600000	0.82982	CGT		0.483	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		A	70613248	G	A	70613248	3	1	159	1	0	0	0	0	1	0	0	0	15518	1145	40	1	3291	1	TAF1	23	70613248	Missense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08	51053002	70613248	84657312	56	9415											
ZNF75D	7626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	134427942	134427942	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chrX:134427942T>G	ENST00000370766.3	-	3	2834	c.125A>C	c.(124-126)aAt>aCt	p.N42T	ZNF75D_ENST00000370764.1_Missense_Mutation_p.N42T|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	42					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N42T(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGGACCAAGATTCTCTATTTT	0.488																																																1	Substitution - Missense(1)	kidney(1)											103	96	98					X																	134427942		2203	4300	6503	SO:0001583	missense	7626			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.125A>C	X.37:g.134427942T>G	ENSP00000359802:p.Asn42Thr		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.583432	0.00872	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.05855	3.38;3.38	3.13	0.112	0.14623	Retrovirus capsid, C-terminal (1);	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.09377	0.004;0.004	T	0.48375	-0.9041	9	0.18710	T	0.47	.	5.1785	0.15148	0.0:0.4896:0.0:0.5104	.	42;42	P51815;A6NK62	ZN75D_HUMAN;.	T	42	ENSP00000359802:N42T;ENSP00000359800:N42T	ENSP00000359800:N42T	N	-	2	0	ZNF75D	134255608	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.403000	0.07214	-0.080000	0.12685	-0.300000	0.09419	AAT		0.488	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		G	134427942	T	G	134427942	3	3	159	1	0	0	0	0	1	0	0	0	18139	1493	52	5	1427	5	ZNF75D	23	134427942	Missense_Mutation	SNP	T	TCGA-B0-4842-01A-02D-1421-08	63814694	134427942	20842618	57	9416											
MCF2	4168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	138713618	138713618	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chrX:138713618T>A	ENST00000370576.4	-	3	433	c.224A>T	c.(223-225)cAa>cTa	p.Q75L	MCF2_ENST00000370578.4_Missense_Mutation_p.Q220L|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000520602.1_Missense_Mutation_p.Q135L|MCF2_ENST00000338585.6_Missense_Mutation_p.Q75L|MCF2_ENST00000414978.1_Missense_Mutation_p.Q135L|MCF2_ENST00000519895.1_Missense_Mutation_p.Q135L|MCF2_ENST00000370573.4_Missense_Mutation_p.Q75L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	75	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q75L(2)|p.Q135L(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGGGGTTAATTGCTTGTCATC	0.408																																																3	Substitution - Missense(3)	kidney(3)											178	141	154					X																	138713618		2203	4300	6503	SO:0001583	missense	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.224A>T	X.37:g.138713618T>A	ENSP00000359608:p.Gln75Leu		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575638	0.86645	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.91	5.91	0.95273	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	M	0.88450	2.955	0.48696	D	0.999694	D;D;D;D;D;D	0.76494	0.999;0.994;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.83275	0.996;0.953;0.994;0.996;0.973;0.996	D	0.87229	0.2259	10	0.87932	D	0	.	13.9959	0.64402	0.0:0.0:0.0:1.0	.	135;220;75;220;75;75	E9PH77;B7Z3Z2;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;MCF2_HUMAN	L	135;75;220;135;135;75;75	ENSP00000427745:Q135L;ENSP00000359608:Q75L;ENSP00000359610:Q220L;ENSP00000397055:Q135L;ENSP00000430276:Q135L;ENSP00000359605:Q75L;ENSP00000342204:Q75L	ENSP00000342204:Q75L	Q	-	2	0	MCF2	138541284	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.391000	0.79828	1.986000	0.57962	0.481000	0.45027	CAA		0.408	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		A	138713618	T	A	138713618	3	1	159	1	0	0	0	0	1	0	0	0	9380	1812	63	5	2725	5	MCF2	23	138713618	Missense_Mutation	SNP	T	TCGA-B0-4842-01A-02D-1421-08	4285676	138713618	16556942	58	9417											
IRAK1	3654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153283528	153283528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4842-01A-02D-1421-08	TCGA-B0-4842-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ae765ade-6a06-439c-a1cd-67222a70f44e	fc3394f3-58d8-4886-9c72-d6a8f56887df	g.chrX:153283528G>A	ENST00000369980.3	-	7	1005	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	IRAK1_ENST00000393687.2_Nonsense_Mutation_p.Q280*|IRAK1_ENST00000393682.1_Nonsense_Mutation_p.Q306*|IRAK1_ENST00000429936.2_Nonsense_Mutation_p.Q306*|IRAK1_ENST00000369974.2_Nonsense_Mutation_p.Q280*|IRAK1_ENST00000477274.1_5'UTR|MIR718_ENST00000390190.2_RNA	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.Q280*(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCGTTCTGAGCACAGTAG	0.602																																																2	Substitution - Nonsense(2)	kidney(2)											125	89	101					X																	153283528		2203	4300	6503	SO:0001587	stop_gained	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.838C>T	X.37:g.153283528G>A	ENSP00000358997:p.Gln280*		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Nonsense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	32|32	5.112105|5.112105	0.94339|0.94339	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936|ENST00000443220	.|.	.|.	.|.	5.07|5.07	0.958|0.958	0.19619|0.19619	.|.	0.462954|.	0.18626|.	N|.	0.135720|.	.|T	.|0.70535	.|0.3235	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74478	.|-0.3652	.|3	0.54805|.	T|.	0.06|.	-10.2744|-10.2744	18.1033|18.1033	0.89513|0.89513	0.0:0.7255:0.2745:0.0|0.0:0.7255:0.2745:0.0	.|.	.|.	.|.	.|.	X|L	280;280;306;280;306|50	.|.	ENSP00000358991:Q280X|.	Q|S	-|-	1|2	0|0	IRAK1|IRAK1	152936722|152936722	0.670000|0.670000	0.27512|0.27512	0.099000|0.099000	0.21106|0.21106	0.529000|0.529000	0.34654|0.34654	1.251000|1.251000	0.32862|0.32862	0.041000|0.041000	0.15688|0.15688	0.529000|0.529000	0.55759|0.55759	CAG|TCA		0.602	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			A	153283528	G	A	153283528	4	1	159	1	0	0	0	0	0	1	0	0	7823	1299	45	2	1332	2	IRAK1	23	153283528	Nonsense_Mutation	SNP	G	TCGA-B0-4842-01A-02D-1421-08	14569910	153283528	1987032	59	9418											
KIF1B	23095	hgsc.bcm.edu	37	1	10318706	10318706	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:10318706A>C	ENST00000377086.1	+	4	541	c.339A>C	c.(337-339)gaA>gaC	p.E113D	KIF1B_ENST00000377081.1_Missense_Mutation_p.E113D|KIF1B_ENST00000377083.1_Missense_Mutation_p.E113D|KIF1B_ENST00000263934.6_Missense_Mutation_p.E113D|KIF1B_ENST00000377093.4_Missense_Mutation_p.E113D			O60333	KIF1B_HUMAN	kinesin family member 1B	113	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AACAAGAAGAAAGCCAGGCTG	0.348																																																0													98	95	96					1																	10318706		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.339A>C	1.37:g.10318706A>C	ENSP00000366290:p.Glu113Asp		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	A	15.12	2.739029	0.49045	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.69	0.863	0.19062	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	N	0.13299	0.325	0.58432	D	0.999992	B;B;P;B;B;D;B	0.57257	0.361;0.011;0.542;0.249;0.135;0.979;0.04	P;B;B;B;B;P;B	0.50405	0.464;0.021;0.348;0.348;0.115;0.64;0.039	T	0.54105	-0.8343	10	0.23891	T	0.37	.	10.4526	0.44531	0.4376:0.0:0.5624:0.0	.	113;113;113;113;113;113;113	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	D	113	ENSP00000263934:E113D;ENSP00000366297:E113D;ENSP00000366290:E113D;ENSP00000366287:E113D;ENSP00000366284:E113D	ENSP00000263934:E113D	E	+	3	2	KIF1B	10241293	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.096000	0.30976	-0.084000	0.12595	0.377000	0.23210	GAA		0.348	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			C	10318706	A	C	10318706	3	2	160	1	0	0	0	0	1	0	0	0	8286	11	1	5	349	5	KIF1B	1	10318706	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10		10318706	238931915	1	9419											
SSX2IP	117178	hgsc.bcm.edu;ucsc.edu	37	1	85117601	85117601	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:85117601G>C	ENST00000342203.3	-	12	1732	c.1469C>G	c.(1468-1470)tCa>tGa	p.S490*	SSX2IP_ENST00000437941.2_Nonsense_Mutation_p.S463*|SSX2IP_ENST00000370612.4_Nonsense_Mutation_p.S490*|SSX2IP_ENST00000605755.1_Nonsense_Mutation_p.S463*|SSX2IP_ENST00000603677.1_Nonsense_Mutation_p.S9*	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	490					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CACATTTTCTGAGTTCTGGTG	0.323																																																0													127	121	123					1																	85117601		2203	4300	6503	SO:0001587	stop_gained	117178				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1469C>G	1.37:g.85117601G>C	ENSP00000340279:p.Ser490*		A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Nonsense_Mutation	SNP	ENST00000342203.3	37	CCDS699.1	.	.	.	.	.	.	.	.	.	.	G	40	8.202105	0.98704	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000370612	.	.	.	5.82	4.9	0.64082	.	0.353995	0.29940	N	0.010810	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.7045	0.40207	0.1521:0.0:0.8479:0.0	.	.	.	.	X	490;463;490	.	ENSP00000340279:S490X	S	-	2	0	SSX2IP	84890189	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.040000	0.49799	2.753000	0.94483	0.557000	0.71058	TCA		0.323	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		C	85117601	G	C	85117601	4	2	160	1	0	0	0	0	0	1	0	0	15209	1294	45	4	387	4	SSX2IP	1	85117601	Nonsense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10	74798895	85117601	164133020	2	9420											
MCOLN3	55283	hgsc.bcm.edu	37	1	85487844	85487844	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:85487844G>T	ENST00000370589.2	-	11	1281	c.1229C>A	c.(1228-1230)cCc>cAc	p.P410H	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.P354H|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	410					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GATGACATTGGGCAGCGCTGC	0.473																																																0													88	85	86					1																	85487844		2203	4300	6503	SO:0001583	missense	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1229C>A	1.37:g.85487844G>T	ENSP00000359621:p.Pro410His		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362884	0.82353	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.70282	-0.47;-0.47	5.52	5.52	0.82312	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88976	0.3404	10	0.72032	D	0.01	-24.3128	19.4397	0.94813	0.0:0.0:1.0:0.0	.	354;410	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	H	410;410;354;354	ENSP00000359621:P410H;ENSP00000342698:P354H	ENSP00000304843:P410H	P	-	2	0	MCOLN3	85260432	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.415000	0.97375	2.578000	0.87016	0.563000	0.77884	CCC		0.473	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		T	85487844	G	T	85487844	3	4	160	1	0	0	0	0	1	0	0	0	9399	1232	43	4	444	4	MCOLN3	1	85487844	Missense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10	370243	85487844	163762777	3	9421											
ARNT	405	hgsc.bcm.edu	37	1	150789853	150789853	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:150789853C>G	ENST00000358595.5	-	16	1762	c.1562G>C	c.(1561-1563)aGc>aCc	p.S521T	ARNT_ENST00000505755.1_Missense_Mutation_p.S506T|ARNT_ENST00000515192.1_Missense_Mutation_p.S507T|ARNT_ENST00000354396.2_Missense_Mutation_p.S521T	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	521					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGATTGTAGCTGGCCAGTCC	0.423			T	ETV6	AML																																		Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	0													156	133	141					1																	150789853		2203	4300	6503	SO:0001583	missense	405			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"Basic helix-loop-helix proteins"	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1562G>C	1.37:g.150789853C>G	ENSP00000351407:p.Ser521Thr		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130722	0.37630	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.05855	3.48;3.49;3.48;3.38	5.6	4.68	0.58851	.	0.642979	0.17371	N	0.176694	T	0.03263	0.0095	L	0.55481	1.735	0.24617	N	0.993691	B;B;B;B;B	0.28512	0.102;0.214;0.214;0.214;0.06	B;B;B;B;B	0.31946	0.034;0.138;0.138;0.138;0.034	T	0.31558	-0.9939	10	0.46703	T	0.11	.	10.3371	0.43856	0.0:0.7939:0.1345:0.0716	.	506;521;507;506;521	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	T	521;521;507;473;506	ENSP00000351407:S521T;ENSP00000346372:S521T;ENSP00000423851:S507T;ENSP00000427571:S506T	ENSP00000346372:S521T	S	-	2	0	ARNT	149056477	0.247000	0.23920	1.000000	0.80357	0.993000	0.82548	0.903000	0.28475	1.343000	0.45638	0.591000	0.81541	AGC		0.423	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			G	150789853	C	G	150789853	3	3	160	1	0	0	0	0	1	0	0	0	965	797	28	4	835	4	ARNT	1	150789853	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	65302009	150789853	98460768	4	9422											
CGN	57530	hgsc.bcm.edu;ucsc.edu	37	1	151498197	151498197	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:151498197C>T	ENST00000271636.7	+	9	1827	c.1694C>T	c.(1693-1695)tCa>tTa	p.S565L	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	559	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGAGACTTCAGAGGAGACA	0.552																																																0													87	74	79					1																	151498197		2203	4300	6503	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1694C>T	1.37:g.151498197C>T	ENSP00000271636:p.Ser565Leu		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679609	0.47886	.	.	ENSG00000143375	ENST00000271636	T	0.64618	-0.11	4.35	4.35	0.52113	.	0.305900	0.34531	N	0.003890	T	0.39860	0.1094	M	0.65975	2.015	0.32024	N	0.600444	P	0.43094	0.799	B	0.33339	0.162	T	0.46898	-0.9158	10	0.34782	T	0.22	-5.8786	11.9462	0.52930	0.0:0.8242:0.1758:0.0	.	559	Q9P2M7	CING_HUMAN	L	565	ENSP00000271636:S565L	ENSP00000271636:S565L	S	+	2	0	CGN	149764821	0.944000	0.32072	0.996000	0.52242	0.993000	0.82548	1.741000	0.38238	2.409000	0.81822	0.655000	0.94253	TCA		0.552	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		T	151498197	C	T	151498197	3	4	160	1	0	0	0	0	1	0	0	0	3305	838	29	2	1724	2	CGN	1	151498197	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	708344	151498197	97752424	5	9423											
TDRD5	163589	hgsc.bcm.edu;ucsc.edu	37	1	179561765	179561765	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:179561765G>T	ENST00000367614.1	+	2	374	c.15G>T	c.(13-15)gaG>gaT	p.E5D	TDRD5_ENST00000294848.8_Missense_Mutation_p.E5D|TDRD5_ENST00000444136.1_Missense_Mutation_p.E5D|RP11-545A16.4_ENST00000567150.1_RNA	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	5					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTGAACAAGAGCGTATACAGG	0.443																																																0													136	130	132					1																	179561765		2203	4300	6503	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.15G>T	1.37:g.179561765G>T	ENSP00000356586:p.Glu5Asp		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321593	0.41096	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.14391	2.51;2.51;2.67	5.91	2.01	0.26516	.	0.121167	0.53938	D	0.000044	T	0.06645	0.0170	N	0.19112	0.55	0.35362	D	0.788326	P;P	0.44521	0.837;0.7	B;B	0.36244	0.22;0.081	T	0.45264	-0.9273	10	0.20046	T	0.44	-25.7807	8.742	0.34562	0.3604:0.0:0.6396:0.0	.	5;5	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	D	5	ENSP00000356586:E5D;ENSP00000294848:E5D;ENSP00000406052:E5D	ENSP00000294848:E5D	E	+	3	2	TDRD5	177828388	0.278000	0.24230	0.866000	0.34008	0.843000	0.47879	0.651000	0.24873	0.124000	0.18369	0.655000	0.94253	GAG		0.443	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		T	179561765	G	T	179561765	3	4	160	1	0	0	0	0	1	0	0	0	15738	962	34	4	17	4	TDRD5	1	179561765	Missense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10	28063568	179561765	69688856	6	9424											
PTGS2	5743	hgsc.bcm.edu;ucsc.edu	37	1	186646028	186646028	+	Silent	SNP	G	G	A	rs200000802	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:186646028G>A	ENST00000367468.5	-	6	796	c.660C>T	c.(658-660)taC>taT	p.Y220Y	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	220					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GAGTTTCACCGTAAATATGAT	0.308													G|||	2	0.000399361	0.0	0.0029	5008	,	,		12800	0.0		0.0	False		,,,				2504	0.0															0													113	127	122					1																	186646028		2203	4299	6502	SO:0001819	synonymous_variant	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.660C>T	1.37:g.186646028G>A			A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	CCDS1371.1																																																																																				0.308	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		A	186646028	G	A	186646028	2	1	160	1	0	0	0	0	0	0	0	1	12762	1140	40	1		1	PTGS2	1	186646028	Silent	SNP	G	TCGA-B0-4843-01A-01D-1361-10	7084263	186646028	62604593	7	9425											
PROX1	5629	hgsc.bcm.edu	37	1	214170598	214170598	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:214170598A>T	ENST00000366958.4	+	2	1328	c.720A>T	c.(718-720)aaA>aaT	p.K240N	PROX1_ENST00000261454.4_Missense_Mutation_p.K240N|PROX1_ENST00000498508.2_Missense_Mutation_p.K240N|PROX1_ENST00000435016.1_Missense_Mutation_p.K240N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	240					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GACAGCTGAAACAGCAGCTGG	0.507																																																0													41	44	43					1																	214170598		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.720A>T	1.37:g.214170598A>T	ENSP00000355925:p.Lys240Asn		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867395	0.51588	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.93	-7.51	0.01346	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	M	0.69823	2.125	0.53005	D	0.999965	D	0.89917	1.0	D	0.87578	0.998	T	0.62296	-0.6884	10	0.87932	D	0	-4.9014	19.5311	0.95230	0.3571:0.0:0.6429:0.0	.	240	Q92786	PROX1_HUMAN	N	240	ENSP00000420283:K240N;ENSP00000355925:K240N;ENSP00000400694:K240N;ENSP00000261454:K240N	ENSP00000261454:K240N	K	+	3	2	PROX1	212237221	0.827000	0.29292	0.739000	0.30968	0.995000	0.86356	0.052000	0.14163	-1.602000	0.01599	-0.290000	0.09829	AAA		0.507	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		T	214170598	A	T	214170598	3	4	160	1	0	0	0	0	1	0	0	0	12565	40	2	5	722	5	PROX1	1	214170598	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10	27524570	214170598	35080023	8	9426											
OR2T34	127068	hgsc.bcm.edu	37	1	248737664	248737664	+	Missense_Mutation	SNP	C	C	T	rs147489167	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:248737664C>T	ENST00000328782.2	-	1	416	c.395G>A	c.(394-396)tGc>tAc	p.C132Y		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGAGGTCTGCAAACAGCAGC	0.562																																																0													13	15	14					1																	248737664		2167	4277	6444	SO:0001583	missense	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.395G>A	1.37:g.248737664C>T	ENSP00000330904:p.Cys132Tyr		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	CCDS31120.1	346	0.15842490842490842	94	0.1910569105691057	45	0.12430939226519337	111	0.19405594405594406	96	0.1266490765171504	.	15.43	2.830281	0.50845	.	.	ENSG00000183310	ENST00000328782	T	0.02158	4.42	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	M	0.84773	2.715	0.34880	P	0.255475	D	0.89917	1.0	D	0.91635	0.999	T	0.13072	-1.0523	8	0.87932	D	0	.	11.5675	0.50813	0.0:1.0:0.0:0.0	.	132	Q8NGX1	O2T34_HUMAN	Y	132	ENSP00000330904:C132Y	ENSP00000330904:C132Y	C	-	2	0	OR2T34	246804287	0.998000	0.40836	0.002000	0.10522	0.083000	0.17756	4.201000	0.58439	1.154000	0.42482	0.389000	0.25775	TGC		0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		T	248737664	C	T	248737664	3	4	160	1	0	0	0	0	1	0	0	0	11027	710	25	2	565	2	OR2T34	1	248737664	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	34567066	248737664	512957	9	9427											
LRP2	4036	hgsc.bcm.edu;ucsc.edu	37	2	170027076	170027076	+	Missense_Mutation	SNP	C	C	A	rs71430659		TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr2:170027076C>A	ENST00000263816.3	-	59	11650	c.11365G>T	c.(11365-11367)Gat>Tat	p.D3789Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3789	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCCCGTTCATCTGAGTTGTCC	0.463																																																0													180	154	163					2																	170027076		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11365G>T	2.37:g.170027076C>A	ENSP00000263816:p.Asp3789Tyr		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934495	0.92458	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.99232	-5.6	5.56	5.56	0.83823	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96522	0.9386	10	0.87932	D	0	.	19.9052	0.97004	0.0:1.0:0.0:0.0	.	3789	P98164	LRP2_HUMAN	Y	3789;484	ENSP00000263816:D3789Y	ENSP00000263816:D3789Y	D	-	1	0	LRP2	169735322	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.776000	0.95493	0.655000	0.94253	GAT		0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170027076	C	A	170027076	3	1	160	1	0	0	0	0	1	0	0	0	8958	913	32	4	2686	4	LRP2	2	170027076	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10		170027076	73172297	10	9428											
COL4A3	1285	hgsc.bcm.edu	37	2	228131178	228131178	+	Missense_Mutation	SNP	C	C	T	rs374905404		TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr2:228131178C>T	ENST00000396578.3	+	22	1523	c.1361C>T	c.(1360-1362)cCa>cTa	p.P454L	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	454	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CACGGACTGCCAGGCTATCTA	0.403																																																0													72	70	71					2																	228131178		1850	4096	5946	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1361C>T	2.37:g.228131178C>T	ENSP00000379823:p.Pro454Leu		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407085	0.62399	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.92299	-3.01	5.69	5.69	0.88448	.	0.000000	0.56097	D	0.000036	D	0.94604	0.8261	L	0.50993	1.605	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.999;0.999	D	0.94793	0.7964	10	0.87932	D	0	.	15.3121	0.74042	0.0:1.0:0.0:0.0	.	454;454;454;454	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	454	ENSP00000379823:P454L	ENSP00000323334:P454L	P	+	2	0	COL4A3	227839422	0.994000	0.37717	0.990000	0.47175	0.286000	0.27126	2.663000	0.46774	2.685000	0.91497	0.655000	0.94253	CCA		0.403	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		T	228131178	C	T	228131178	3	4	160	1	0	0	0	0	1	0	0	0	3693	594	21	2	1447	2	COL4A3	2	228131178	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	58104102	228131178	15068195	11	9429											
C3orf67	200844	hgsc.bcm.edu	37	3	58739534	58739534	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr3:58739534T>G	ENST00000482387.1	-	12	2015	c.1919A>C	c.(1918-1920)gAg>gCg	p.E640A	C3orf67_ENST00000295966.7_Missense_Mutation_p.E514A			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	640										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TGGACGCTGCTCAGCCGGCTG	0.383																																																0													55	57	56					3																	58739534		2203	4300	6503	SO:0001583	missense	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1919A>C	3.37:g.58739534T>G	ENSP00000417122:p.Glu640Ala		B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.195|9.195	1.027017|1.027017	0.19512|0.19512	.|.	.|.	ENSG00000163689|ENSG00000163689	ENST00000295966;ENST00000482387|ENST00000486145	T;T|.	0.20598|.	2.06;2.07|.	5.77|5.77	4.61|4.61	0.57282|0.57282	.|.	0.410133|.	0.26180|.	N|.	0.025865|.	T|.	0.34279|.	0.0892|.	L|L	0.38175|0.38175	1.15|1.15	0.24442|0.24442	N|N	0.994528|0.994528	P;P|.	0.45531|.	0.51;0.86|.	B;P|.	0.44561|.	0.23;0.453|.	T|.	0.24476|.	-1.0159|.	10|.	0.31617|.	T|.	0.26|.	-2.641|-2.641	5.4234|5.4234	0.16413|0.16413	0.1518:0.0876:0.0:0.7606|0.1518:0.0876:0.0:0.7606	.|.	514;640|.	Q6ZVT6-2;Q6ZVT6|.	.;CC067_HUMAN|.	A|C	514;640|53	ENSP00000295966:E514A;ENSP00000417122:E640A|.	ENSP00000295966:E514A|.	E|X	-|-	2|3	0|0	C3orf67|C3orf67	58714574|58714574	0.138000|0.138000	0.22547|0.22547	0.031000|0.031000	0.17742|0.17742	0.226000|0.226000	0.24999|0.24999	2.201000|2.201000	0.42734|0.42734	1.105000|1.105000	0.41606|0.41606	0.528000|0.528000	0.53228|0.53228	GAG|TGA		0.383	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		G	58739534	T	G	58739534	3	3	160	1	0	0	0	0	1	0	0	0	2243	1551	54	5	158	5	C3orf67	3	58739534	Missense_Mutation	SNP	T	TCGA-B0-4843-01A-01D-1361-10		58739534	139282896	12	9430											
KIAA0226	9711	hgsc.bcm.edu;ucsc.edu	37	3	197427934	197427934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr3:197427934G>A	ENST00000296343.5	-	7	810	c.811C>T	c.(811-813)Caa>Taa	p.Q271*	KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000389665.5_Nonsense_Mutation_p.Q271*|KIAA0226_ENST00000449205.1_Nonsense_Mutation_p.Q271*|KIAA0226_ENST00000273582.5_Nonsense_Mutation_p.Q211*	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	271	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGGATGGTTTGATCCTCTGCT	0.512																																					Esophageal Squamous(3;167 355 3763 15924)											0													56	58	57					3																	197427934		1904	4131	6035	SO:0001587	stop_gained	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.811C>T	3.37:g.197427934G>A	ENSP00000296343:p.Gln271*		Q96CK5	Nonsense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.726612|2.726612	0.48833|0.48833	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205|ENST00000413360	.|.	.|.	.|.	5.85|5.85	4.97|4.97	0.65823|0.65823	.|.	0.773402|.	0.12519|.	N|.	0.461838|.	.|T	.|0.67192	.|0.2867	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71672	.|-0.4522	.|3	0.18710|.	T|.	0.47|.	.|.	15.3477|15.3477	0.74355|0.74355	0.0:0.139:0.861:0.0|0.0:0.139:0.861:0.0	.|.	.|.	.|.	.|.	X|L	211;271;271;271|249	.|.	ENSP00000273582:Q211X|.	Q|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198912331|198912331	0.058000|0.058000	0.20735|0.20735	0.084000|0.084000	0.20598|0.20598	0.087000|0.087000	0.18053|0.18053	1.718000|1.718000	0.38001|0.38001	1.448000|1.448000	0.47680|0.47680	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.512	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		A	197427934	G	A	197427934	4	1	160	1	0	0	0	0	0	1	0	0	8164	1299	45	2	2212	2	KIAA0226	3	197427934	Nonsense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10	138688400	197427934	594496	13	9431											
UGT3A1	133688	hgsc.bcm.edu;ucsc.edu	37	5	35988576	35988576	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:35988576G>C	ENST00000274278.3	-	2	529	c.172C>G	c.(172-174)Cag>Gag	p.Q58E	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.Q4E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.Q58E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	58						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTCCACTCTGATGAAGCATA	0.343																																																0													80	75	77					5																	35988576		2203	4300	6503	SO:0001583	missense	133688				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.172C>G	5.37:g.35988576G>C	ENSP00000274278:p.Gln58Glu		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	9.279	1.047686	0.19827	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000333811	T;T;T	0.61392	0.11;0.11;0.98	3.21	-6.29	0.02013	.	0.453654	0.16591	U	0.207772	T	0.36799	0.0980	L	0.39245	1.2	0.09310	N	1	B;B;B	0.24882	0.034;0.113;0.098	B;B;B	0.29440	0.102;0.024;0.055	T	0.25984	-1.0116	10	0.66056	D	0.02	.	0.8538	0.01178	0.1826:0.2521:0.2938:0.2714	.	58;4;58	B7Z8Q8;G5E961;Q6NUS8	.;.;UD3A1_HUMAN	E	58;58;4	ENSP00000274278:Q58E;ENSP00000427079:Q58E;ENSP00000328033:Q4E	ENSP00000274278:Q58E	Q	-	1	0	UGT3A1	36024333	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.737000	0.01843	-1.754000	0.01321	-0.448000	0.05591	CAG		0.343	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		C	35988576	G	C	35988576	3	2	160	1	0	0	0	0	1	0	0	0	16968	1299	45	4	1505	4	UGT3A1	5	35988576	Missense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10		35988576	144926684	14	9432											
MRPS36	92259	hgsc.bcm.edu;ucsc.edu	37	5	68522165	68522165	+	Splice_Site	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:68522165G>A	ENST00000256441.4	+	2	113	c.43G>A	c.(43-45)Gta>Ata	p.V15I	MRPS36_ENST00000512880.1_Intron|MRPS36_ENST00000507022.1_Intron|MRPS36_ENST00000602380.1_5'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	15					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		TTTCATTTAGGTAGTCAAACC	0.274																																																0													86	85	86					5																	68522165		2203	4295	6498	SO:0001630	splice_region_variant	92259				CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"Mitochondrial ribosomal proteins / small subunits"	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.43-1G>A	5.37:g.68522165G>A			Q9H2H4	Missense_Mutation	SNP	ENST00000256441.4	37	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866107	0.51588	.	.	ENSG00000134056	ENST00000256441	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000002	T	0.66665	0.2812	L	0.36672	1.1	0.80722	D	1	D	0.61697	0.99	D	0.75484	0.986	T	0.63037	-0.6726	8	.	.	.	-0.0248	15.7145	0.77658	0.0:0.0:1.0:0.0	.	15	P82909	RT36_HUMAN	I	15	.	.	V	+	1	0	MRPS36	68557921	1.000000	0.71417	0.997000	0.53966	0.055000	0.15305	5.322000	0.65852	2.685000	0.91497	0.650000	0.86243	GTA		0.274	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	NM_033281	Missense_Mutation	A	68522165	G	A	68522165	5	1	160	1	0	0	0	0	0	0	1	0	9847	1275	44	2	49	2	MRPS36	5	68522165	Splice_Site	SNP	G	TCGA-B0-4843-01A-01D-1361-10	32533589	68522165	112393095	15	9433											
GPR98	84059	hgsc.bcm.edu	37	5	89999583	89999583	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:89999583A>T	ENST00000405460.2	+	35	8353	c.8257A>T	c.(8257-8259)Aac>Tac	p.N2753Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2753	Calx-beta 19. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAATTTTGCTAACTTTAGCGG	0.338																																																0													67	65	65					5																	89999583		1806	4075	5881	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8257A>T	5.37:g.89999583A>T	ENSP00000384582:p.Asn2753Tyr		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653284	0.29425	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27256	1.68	5.15	5.15	0.70609	.	0.316247	0.38720	N	0.001598	T	0.43010	0.1228	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.64042	0.921;0.921	T	0.32052	-0.9921	10	0.59425	D	0.04	.	11.5135	0.50507	0.8661:0.0:0.0:0.1339	.	2753;2753	E7ETI5;Q8WXG9	.;GPR98_HUMAN	Y	2753	ENSP00000384582:N2753Y	ENSP00000296619:N2753Y	N	+	1	0	GPR98	90035339	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	2.212000	0.42835	2.173000	0.68751	0.528000	0.53228	AAC		0.338	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89999583	A	T	89999583	3	4	160	1	0	0	0	0	1	0	0	0	6723	362	13	5	8395	5	GPR98	5	89999583	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10	21477418	89999583	90915677	16	9434											
ARRDC3	57561	hgsc.bcm.edu;ucsc.edu	37	5	90671371	90671371	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:90671371T>C	ENST00000265138.3	-	4	836	c.570A>G	c.(568-570)ccA>ccG	p.P190P	ARRDC3_ENST00000503192.1_5'UTR	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	190					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TTAAGGATATTGGGCCTGAGG	0.393																																																0													123	131	128					5																	90671371		2203	4300	6503	SO:0001819	synonymous_variant	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.570A>G	5.37:g.90671371T>C			A8K6T8|Q9P2H1	Silent	SNP	ENST00000265138.3	37	CCDS34202.1																																																																																				0.393	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		C	90671371	T	C	90671371	2	2	160	1	0	0	0	0	0	0	0	1	984	1799	63	3		3	ARRDC3	5	90671371	Silent	SNP	T	TCGA-B0-4843-01A-01D-1361-10	671788	90671371	90243889	17	9435											
APC	324	hgsc.bcm.edu	37	5	112177363	112177363	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:112177363C>G	ENST00000457016.1	+	16	6452	c.6072C>G	c.(6070-6072)aaC>aaG	p.N2024K	APC_ENST00000257430.4_Missense_Mutation_p.N2024K|APC_ENST00000508376.2_Missense_Mutation_p.N2024K|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2024	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		tctCAAGAAACAGTTCTCTCA	0.428		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)											90	91	90					5																	112177363		2201	4300	6501	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6072C>G	5.37:g.112177363C>G	ENSP00000413133:p.Asn2024Lys		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345240	0.41498	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.77489	-1.1;-1.1;-1.1	5.86	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	L	0.50333	1.59	0.48511	D	0.999665	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80741	-0.1247	9	.	.	.	-18.9906	10.5966	0.45341	0.0:0.7434:0.0:0.2566	.	2026;2024	Q4LE70;P25054	.;APC_HUMAN	K	2024	ENSP00000413133:N2024K;ENSP00000257430:N2024K;ENSP00000427089:N2024K	.	N	+	3	2	APC	112205262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.997000	0.29731	0.831000	0.34780	0.650000	0.86243	AAC		0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112177363	C	G	112177363	3	3	160	1	0	0	0	0	1	0	0	0	763	477	17	4	6130	4	APC	5	112177363	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	21505992	112177363	68737897	18	9436											
SLC4A9	83697	hgsc.bcm.edu	37	5	139747071	139747071	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:139747071G>A	ENST00000230993.6	+	15	2187	c.2152G>A	c.(2152-2154)Gca>Aca	p.A718T	SLC4A9_ENST00000507527.1_Missense_Mutation_p.A718T|SLC4A9_ENST00000506757.2_Missense_Mutation_p.A694T|SLC4A9_ENST00000506545.1_Missense_Mutation_p.A631T|SLC4A9_ENST00000432095.2_Missense_Mutation_p.A680T	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	718	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGTGTGGCAGCTGCCCT	0.582																																																0													26	32	30					5																	139747071		2100	4237	6337	SO:0001583	missense	83697			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2152G>A	5.37:g.139747071G>A	ENSP00000230993:p.Ala718Thr		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286465	0.80803	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.02	5.02	0.67125	Bicarbonate transporter, C-terminal (1);	0.283439	0.30126	N	0.010345	D	0.90998	0.7169	M	0.91920	3.255	0.37566	D	0.919243	P;D;D;D	0.71674	0.722;0.998;0.998;0.998	B;D;D;D	0.68765	0.419;0.96;0.934;0.934	D	0.93635	0.6959	10	0.87932	D	0	.	14.5949	0.68397	0.0:0.2635:0.7365:0.0	.	631;718;680;694	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	T	718;694;680;631;718	ENSP00000230993:A718T;ENSP00000424424:A694T;ENSP00000410056:A680T;ENSP00000422855:A631T;ENSP00000427661:A718T	ENSP00000230993:A718T	A	+	1	0	SLC4A9	139727255	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.417000	0.66423	2.779000	0.95612	0.655000	0.94253	GCA		0.582	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		A	139747071	G	A	139747071	3	1	160	1	0	0	0	0	1	0	0	0	14666	1203	42	2	2138	2	SLC4A9	5	139747071	Missense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10	27569708	139747071	41168189	19	9437											
AFAP1L1	134265	hgsc.bcm.edu	37	5	148685879	148685879	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:148685879C>A	ENST00000296721.4	+	6	545	c.447C>A	c.(445-447)agC>agA	p.S149R	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.S149R|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	149						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCTGCAGCCCCTCACACT	0.582																																																0													49	42	44					5																	148685879		2203	4300	6503	SO:0001583	missense	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.447C>A	5.37:g.148685879C>A	ENSP00000296721:p.Ser149Arg		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851607	0.51270	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.32515	1.45;1.45	5.35	4.48	0.54585	.	0.492287	0.22594	N	0.058042	T	0.49218	0.1544	M	0.73598	2.24	0.51767	D	0.99993	D;P;D	0.57571	0.957;0.624;0.98	P;B;P	0.61397	0.888;0.307;0.711	T	0.51012	-0.8759	10	0.66056	D	0.02	-11.11	8.9216	0.35615	0.0:0.7756:0.0:0.2244	.	149;149;149	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	R	149	ENSP00000296721:S149R;ENSP00000424427:S149R	ENSP00000296721:S149R	S	+	3	2	AFAP1L1	148666072	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.258000	0.32944	1.391000	0.46566	0.561000	0.74099	AGC		0.582	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		A	148685879	C	A	148685879	3	1	160	1	0	0	0	0	1	0	0	0	354	738	26	4	469	4	AFAP1L1	5	148685879	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	8938808	148685879	32229381	20	9438											
ZNF192	7745	hgsc.bcm.edu	37	6	28116332	28116332	+	Silent	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:28116332G>A	ENST00000330236.6	+	2	331	c.147G>A	c.(145-147)gtG>gtA	p.V49V	ZKSCAN8_ENST00000457389.2_Silent_p.V49V	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	49					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCCAAGAAGTGTTCCGCCTGC	0.537																																																0													136	116	123					6																	28116332		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.147G>A	6.37:g.28116332G>A			A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Silent	SNP	ENST00000330236.6	37	CCDS4645.1																																																																																				0.537	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			A	28116332	G	A	28116332	2	1	160	1	0	0	0	0	0	0	0	1	17761	1364	48	2		2	ZNF192	6	28116332	Silent	SNP	G	TCGA-B0-4843-01A-01D-1361-10		28116332	142998735	21	9439											
CDC5L	988	hgsc.bcm.edu	37	6	44414438	44414438	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:44414438C>A	ENST00000371477.3	+	16	2698	c.2399C>A	c.(2398-2400)tCa>tAa	p.S800*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	800	Interaction with PLRG1.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTTTAAAGTCAAAATTCTGA	0.338																																																0													90	96	94					6																	44414438		2203	4299	6502	SO:0001587	stop_gained	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.2399C>A	6.37:g.44414438C>A	ENSP00000360532:p.Ser800*		Q76N46|Q99974	Nonsense_Mutation	SNP	ENST00000371477.3	37	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	C	41	8.982324	0.99025	.	.	ENSG00000096401	ENST00000371477	.	.	.	6.01	5.14	0.70334	.	0.481269	0.24988	N	0.034018	.	.	.	.	.	.	0.44843	D	0.997855	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6061	15.1954	0.73084	0.0:0.9327:0.0:0.0673	.	.	.	.	X	800	.	ENSP00000360532:S800X	S	+	2	0	CDC5L	44522416	1.000000	0.71417	0.996000	0.52242	0.770000	0.43624	6.636000	0.74299	1.552000	0.49463	0.650000	0.86243	TCA		0.338	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			A	44414438	C	A	44414438	4	1	160	1	0	0	0	0	0	1	0	0	3084	838	29	4	2461	4	CDC5L	6	44414438	Nonsense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	16298106	44414438	126700629	22	9440											
GPR115	221393	hgsc.bcm.edu;ucsc.edu	37	6	47681783	47681783	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:47681783G>C	ENST00000283303.2	+	6	1060	c.802G>C	c.(802-804)Gat>Cat	p.D268H	GPR115_ENST00000371220.1_Missense_Mutation_p.D325H|GPR115_ENST00000327753.3_Missense_Mutation_p.D268H|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	268					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TACCACAGAAGATATCTTAGG	0.433																																					GBM(22;431 510 9010 26644 32828)											0													63	64	64					6																	47681783		2203	4300	6503	SO:0001583	missense	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.802G>C	6.37:g.47681783G>C	ENSP00000283303:p.Asp268His		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	2.260	-0.369512	0.05069	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.37584	1.43;1.19;1.19	5.19	2.47	0.30058	.	1.061930	0.07255	N	0.866610	T	0.12732	0.0309	L	0.36672	1.1	0.09310	N	1	P	0.38148	0.62	B	0.38225	0.268	T	0.33445	-0.9868	10	0.62326	D	0.03	-0.4729	4.4773	0.11750	0.3803:0.0:0.4769:0.1429	.	268	Q8IZF3	GP115_HUMAN	H	325;268;268	ENSP00000360264:D325H;ENSP00000328319:D268H;ENSP00000283303:D268H	ENSP00000283303:D268H	D	+	1	0	GPR115	47789742	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	0.651000	0.24873	0.301000	0.22738	0.655000	0.94253	GAT		0.433	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		C	47681783	G	C	47681783	3	2	160	1	0	0	0	0	1	0	0	0	6634	942	33	4	820	4	GPR115	6	47681783	Missense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10	3267345	47681783	123433284	23	9441											
CD109	135228	hgsc.bcm.edu;ucsc.edu	37	6	74407205	74407205	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:74407205C>A	ENST00000287097.5	+	2	269	c.157C>A	c.(157-159)Cct>Act	p.P53T	RP11-553A21.3_ENST00000428865.2_RNA|CD109_ENST00000437994.2_Missense_Mutation_p.P53T|CD109_ENST00000422508.2_Missense_Mutation_p.P53T			Q6YHK3	CD109_HUMAN	CD109 molecule	53					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAACACTGCCCTTCACAGGT	0.512																																																0													111	113	112					6																	74407205		2203	4300	6503	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.157C>A	6.37:g.74407205C>A	ENSP00000287097:p.Pro53Thr		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253107	0.80135	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.58940	1.86;0.3;1.85	5.31	5.31	0.75309	.	0.391099	0.21264	N	0.077422	T	0.47021	0.1423	N	0.08118	0	0.26873	N	0.967716	D;D;B;B	0.89917	1.0;1.0;0.251;0.404	D;D;B;B	0.91635	0.998;0.999;0.242;0.146	T	0.52056	-0.8626	10	0.44086	T	0.13	.	16.0095	0.80391	0.0:1.0:0.0:0.0	.	53;53;53;53	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	T	53	ENSP00000388062:P53T;ENSP00000404475:P53T;ENSP00000287097:P53T	ENSP00000287097:P53T	P	+	1	0	CD109	74463926	0.968000	0.33430	0.999000	0.59377	0.953000	0.61014	4.154000	0.58125	2.779000	0.95612	0.655000	0.94253	CCT		0.512	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		A	74407205	C	A	74407205	3	1	160	1	0	0	0	0	1	0	0	0	2965	623	22	4	163	4	CD109	6	74407205	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	26725422	74407205	96707862	24	9442											
CD109	135228	hgsc.bcm.edu	37	6	74517871	74517871	+	Silent	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:74517871C>T	ENST00000287097.5	+	26	3367	c.3255C>T	c.(3253-3255)gaC>gaT	p.D1085D	CD109_ENST00000437994.2_Silent_p.D1085D|CD109_ENST00000422508.2_Silent_p.D1008D			Q6YHK3	CD109_HUMAN	CD109 molecule	1085					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAATTTCAGACAATTATACTC	0.373																																																0													84	82	83					6																	74517871		2203	4300	6503	SO:0001819	synonymous_variant	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3255C>T	6.37:g.74517871C>T			A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1																																																																																				0.373	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		T	74517871	C	T	74517871	2	4	160	1	0	0	0	0	0	0	0	1	2965	477	17	2		2	CD109	6	74517871	Silent	SNP	C	TCGA-B0-4843-01A-01D-1361-10	110666	74517871	96597196	25	9443											
BVES	11149	hgsc.bcm.edu;ucsc.edu	37	6	105549032	105549032	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:105549032C>A	ENST00000314641.5	-	8	1231	c.1015G>T	c.(1015-1017)Gca>Tca	p.A339S	BVES_ENST00000336775.5_Missense_Mutation_p.A339S|BVES_ENST00000446408.2_Missense_Mutation_p.A339S	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	339					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TCATCTTCTGCTCCTTCTTCT	0.458																																																0													208	176	187					6																	105549032		2203	4300	6503	SO:0001583	missense	11149			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.1015G>T	6.37:g.105549032C>A	ENSP00000313172:p.Ala339Ser		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.439872	0.25900	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17528	2.27;2.27;2.27	5.3	3.51	0.40186	.	0.243961	0.40144	N	0.001168	T	0.02012	0.0063	N	0.08118	0	0.20873	N	0.999834	B	0.06786	0.001	B	0.08055	0.003	T	0.47341	-0.9125	10	0.12766	T	0.61	-29.0836	8.071	0.30689	0.0:0.7558:0.1579:0.0863	.	339	Q8NE79	POPD1_HUMAN	S	339	ENSP00000313172:A339S;ENSP00000337259:A339S;ENSP00000397310:A339S	ENSP00000313172:A339S	A	-	1	0	BVES	105655725	0.031000	0.19500	0.971000	0.41717	0.220000	0.24768	0.955000	0.29188	0.710000	0.31997	-0.133000	0.14855	GCA		0.458	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		A	105549032	C	A	105549032	3	1	160	1	0	0	0	0	1	0	0	0	1577	797	28	4	71	4	BVES	6	105549032	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	31031161	105549032	65566035	26	9444											
SERAC1	84947	hgsc.bcm.edu	37	6	158565367	158565367	+	Silent	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:158565367A>G	ENST00000367104.3	-	7	704	c.573T>C	c.(571-573)ttT>ttC	p.F191F	SERAC1_ENST00000367102.2_Silent_p.F191F|SERAC1_ENST00000367101.1_Silent_p.F191F	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	191					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GTAGGAGAAAAAAGCGAAGAT	0.333																																																0													79	82	81					6																	158565367		2203	4300	6503	SO:0001819	synonymous_variant	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.573T>C	6.37:g.158565367A>G			Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	CCDS5255.1																																																																																				0.333	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		G	158565367	A	G	158565367	2	3	160	1	0	0	0	0	0	0	0	1	14080	11	1	3		3	SERAC1	6	158565367	Silent	SNP	A	TCGA-B0-4843-01A-01D-1361-10	53016335	158565367	12549700	27	9445											
STARD3NL	83930	hgsc.bcm.edu;ucsc.edu	37	7	38256830	38256830	+	Silent	SNP	T	T	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr7:38256830T>A	ENST00000009041.7	+	6	734	c.477T>A	c.(475-477)atT>atA	p.I159I	STARD3NL_ENST00000434197.1_Silent_p.I141I|STARD3NL_ENST00000396013.1_Silent_p.I159I|STARD3NL_ENST00000544203.1_Silent_p.I152I	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	159	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TGCCCATCATTTCATTCATCC	0.438																																																0													225	207	213					7																	38256830		2203	4300	6503	SO:0001819	synonymous_variant	83930			AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.477T>A	7.37:g.38256830T>A			A4D1X0	Silent	SNP	ENST00000009041.7	37	CCDS5455.1																																																																																				0.438	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2			A	38256830	T	A	38256830	2	1	160	1	0	0	0	0	0	0	0	1	15263	1829	64	5		5	STARD3NL	7	38256830	Silent	SNP	T	TCGA-B0-4843-01A-01D-1361-10		38256830	120881833	28	9446											
PION	54103	hgsc.bcm.edu	37	7	76955572	76955572	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr7:76955572A>T	ENST00000257626.7	-	23	1862	c.1784T>A	c.(1783-1785)cTc>cAc	p.L595H	GSAP_ENST00000441833.2_5'Flank|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	595					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CTCCTGCAGGAGGGGTGTTAA	0.522																																																0													81	82	81					7																	76955572		1863	4097	5960	SO:0001583	missense	54103				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1784T>A	7.37:g.76955572A>T	ENSP00000257626:p.Leu595His		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673707	0.67928	.	.	ENSG00000186088	ENST00000257626;ENST00000415112	T;T	0.53206	1.39;0.63	5.54	5.54	0.83059	.	0.088595	0.47455	U	0.000239	T	0.64427	0.2597	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.67473	-0.5662	10	0.72032	D	0.01	.	11.9958	0.53201	1.0:0.0:0.0:0.0	.	595	A4D1B5	GSAP_HUMAN	H	595;80	ENSP00000257626:L595H;ENSP00000396230:L80H	ENSP00000257626:L595H	L	-	2	0	PION	76793508	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.853000	0.62911	2.326000	0.78906	0.533000	0.62120	CTC		0.522	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		T	76955572	A	T	76955572	3	4	160	1	0	0	0	0	1	0	0	0	11936	304	11	5	816	5	PION	7	76955572	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10	38698742	76955572	82183091	29	9447											
MAGI2	9863	hgsc.bcm.edu;ucsc.edu	37	7	78119122	78119122	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr7:78119122C>T	ENST00000354212.4	-	6	1254	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	MAGI2_ENST00000419488.1_Missense_Mutation_p.R334Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.R334Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.R166Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.R171Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	334	Interaction with DDN.|WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTCGCAAGTCGTGGATCCAG	0.368																																																0													189	191	190					7																	78119122		2203	4300	6503	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1001G>A	7.37:g.78119122C>T	ENSP00000346151:p.Arg334Gln		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797054	0.90453	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.18502	2.31;2.29;2.21;3.12;3.17	5.49	5.49	0.81192	WW/Rsp5/WWP (3);	0.000000	0.29293	U	0.012568	T	0.54191	0.1843	M	0.92317	3.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.999;1.0;0.978	T	0.64786	-0.6325	10	0.87932	D	0	.	18.7237	0.91705	0.0:1.0:0.0:0.0	.	171;166;334;334	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	Q	334;334;334;334;166;171	ENSP00000405766:R334Q;ENSP00000346151:R334Q;ENSP00000428389:R334Q;ENSP00000441584:R166Q;ENSP00000441603:R171Q	ENSP00000346151:R334Q	R	-	2	0	MAGI2	77957058	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.021000	0.76425	2.732000	0.93576	0.557000	0.71058	CGA		0.368	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		T	78119122	C	T	78119122	3	4	160	1	0	0	0	0	1	0	0	0	9193	884	31	1	3434	1	MAGI2	7	78119122	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	1163550	78119122	81019541	30	9448											
CSGALNACT1	55790	hgsc.bcm.edu	37	8	19263574	19263574	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr8:19263574A>C	ENST00000454498.2	-	10	2329	c.1316T>G	c.(1315-1317)tTt>tGt	p.F439C	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.F439C|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.F439C|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.F439C|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.F439C	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	439					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GTCCAGATCAAACCCACCTGT	0.498																																																0													100	97	98					8																	19263574		2203	4300	6503	SO:0001583	missense	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1316T>G	8.37:g.19263574A>C	ENSP00000411816:p.Phe439Cys		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.209483	0.79240	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85109	0.0962	10	0.87932	D	0	-20.6369	14.9982	0.71449	1.0:0.0:0.0:0.0	.	439	Q8TDX6	CGAT1_HUMAN	C	439	ENSP00000411816:F439C;ENSP00000330805:F439C;ENSP00000310891:F439C;ENSP00000429809:F439C;ENSP00000442155:F439C	ENSP00000310891:F439C	F	-	2	0	CSGALNACT1	19307854	1.000000	0.71417	0.917000	0.36280	0.800000	0.45204	8.879000	0.92398	2.223000	0.72356	0.482000	0.46254	TTT		0.498	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		C	19263574	A	C	19263574	3	2	160	1	0	0	0	0	1	0	0	0	3940	14	1	5	286	5	CSGALNACT1	8	19263574	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10		19263574	127100448	31	9449											
STAU2	27067	hgsc.bcm.edu	37	8	74515976	74515976	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr8:74515976T>C	ENST00000521451.1	-	5	730	c.354A>G	c.(352-354)cgA>cgG	p.R118R	STAU2_ENST00000521727.1_Silent_p.R318R|STAU2_ENST00000523558.1_Silent_p.R166R|STAU2_ENST00000355780.5_Silent_p.R306R|STAU2_ENST00000517542.1_Silent_p.R300R|STAU2_ENST00000524300.1_Silent_p.R338R|STAU2_ENST00000521210.1_Silent_p.R234R|STAU2_ENST00000522509.1_Silent_p.R306R|STAU2_ENST00000519961.1_Silent_p.R338R|STAU2_ENST00000522695.1_Silent_p.R306R			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	338	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.R306R(1)|p.R234R(1)|p.R338R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCACAAATTCTCGACGTCGAG	0.428																																																3	Substitution - coding silent(3)	lung(3)											78	77	78					8																	74515976		2203	4300	6503	SO:0001819	synonymous_variant	27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.354A>G	8.37:g.74515976T>C			B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Silent	SNP	ENST00000521451.1	37																																																																																					0.428	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		C	74515976	T	C	74515976	2	2	160	1	0	0	0	0	0	0	0	1	15278	1538	54	3		3	STAU2	8	74515976	Silent	SNP	T	TCGA-B0-4843-01A-01D-1361-10	55252402	74515976	71848046	32	9450											
LINGO2	158038	hgsc.bcm.edu;ucsc.edu	37	9	27948987	27948987	+	Silent	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr9:27948987A>C	ENST00000379992.2	-	6	2132	c.1683T>G	c.(1681-1683)ctT>ctG	p.L561L	LINGO2_ENST00000308675.3_Silent_p.L561L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	561						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CAAAAAGGAGAAGAAAACAAA	0.453																																																0													90	83	85					9																	27948987		2203	4300	6503	SO:0001819	synonymous_variant	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1683T>G	9.37:g.27948987A>C			A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	CCDS6524.1																																																																																				0.453	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		C	27948987	A	C	27948987	2	2	160	1	0	0	0	0	0	0	0	1	8817	233	9	5		5	LINGO2	9	27948987	Silent	SNP	A	TCGA-B0-4843-01A-01D-1361-10		27948987	113264444	33	9451											
KIF27	55582	hgsc.bcm.edu;ucsc.edu	37	9	86502010	86502010	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr9:86502010G>A	ENST00000297814.2	-	9	2328	c.2185C>T	c.(2185-2187)Ctt>Ttt	p.L729F	KIF27_ENST00000413982.1_Missense_Mutation_p.L729F|KIF27_ENST00000376347.1_Missense_Mutation_p.L120F|KIF27_ENST00000334204.2_Missense_Mutation_p.L729F	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	729					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTAATTGTAAGTTCTCTCATT	0.289																																																0													113	104	107					9																	86502010		2201	4298	6499	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2185C>T	9.37:g.86502010G>A	ENSP00000297814:p.Leu729Phe		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429364	0.62844	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	4.27	3.35	0.38373	.	0.000000	0.45606	D	0.000345	T	0.69655	0.3135	M	0.69185	2.1	0.38306	D	0.943115	P;D;D	0.89917	0.94;1.0;0.999	P;D;D	0.91635	0.699;0.999;0.997	T	0.73681	-0.3906	10	0.66056	D	0.02	.	8.438	0.32799	0.1788:0.0:0.8212:0.0	.	729;729;729	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	F	729;729;729;120	ENSP00000297814:L729F;ENSP00000401688:L729F;ENSP00000333928:L729F;ENSP00000365525:L120F	ENSP00000297814:L729F	L	-	1	0	KIF27	85691830	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.890000	0.63178	2.086000	0.62901	0.305000	0.20034	CTT		0.289	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		A	86502010	G	A	86502010	3	1	160	1	0	0	0	0	1	0	0	0	8298	1029	36	2	2060	2	KIF27	9	86502010	Missense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10	58553023	86502010	54711421	34	9452											
C9orf79	286234	hgsc.bcm.edu	37	9	90498959	90498959	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr9:90498959A>G	ENST00000325643.5	+	2	428	c.362A>G	c.(361-363)aAa>aGa	p.K121R		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	121					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCAGCTCTGAAAGGTGAGGCT	0.592																																																0													55	45	49					9																	90498959		2203	4299	6502	SO:0001583	missense	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.362A>G	9.37:g.90498959A>G	ENSP00000322640:p.Lys121Arg		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	13.79	2.342193	0.41498	.	.	ENSG00000177992	ENST00000325643	T	0.04317	3.65	2.37	1.21	0.21127	.	0.702407	0.11765	N	0.531744	T	0.05777	0.0151	L	0.39514	1.22	0.20074	N	0.999935	P	0.49559	0.925	P	0.49752	0.621	T	0.34129	-0.9841	10	0.15499	T	0.54	.	4.136	0.10170	0.8222:0.0:0.1778:0.0	.	121	Q6ZUB1	CI079_HUMAN	R	121	ENSP00000322640:K121R	ENSP00000322640:K121R	K	+	2	0	C9orf79	89688779	0.002000	0.14202	0.834000	0.33040	0.044000	0.14063	0.040000	0.13905	0.337000	0.23665	0.416000	0.27883	AAA		0.592	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		G	90498959	A	G	90498959	3	3	160	1	0	0	0	0	1	0	0	0	2499	14	1	3	368	3	C9orf79	9	90498959	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10	3996949	90498959	50714472	35	9453											
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123307998	123307998	+	Missense_Mutation	SNP	T	T	C	rs567442825		TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr9:123307998T>C	ENST00000349780.4	-	5	556	c.377A>G	c.(376-378)aAa>aGa	p.K126R	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.K126R|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.K126R|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.K126R	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	126					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCACGAGGCTTTGATGAGCAG	0.453													T|||	1	0.000199681	0.0	0.0	5008	,	,		18431	0.001		0.0	False		,,,				2504	0.0															0													173	162	166					9																	123307998		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.377A>G	9.37:g.123307998T>C	ENSP00000343818:p.Lys126Arg		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541998	0.85917	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.62	5.62	0.85841	Spindle associated (1);	0.000000	0.64402	D	0.000007	T	0.42832	0.1220	L	0.52206	1.635	0.34086	D	0.660175	D;D;D	0.89917	0.998;0.995;1.0	D;D;D	0.81914	0.98;0.972;0.995	T	0.51276	-0.8726	10	0.23302	T	0.38	.	13.7664	0.62997	0.0:0.0:0.0:1.0	.	126;126;126	Q96SN8-2;Q96SN8-4;Q96SN8	.;.;CK5P2_HUMAN	R	126	ENSP00000354065:K126R;ENSP00000352258:K126R;ENSP00000343818:K126R;ENSP00000353317:K126R	ENSP00000341695:K126R	K	-	2	0	CDK5RAP2	122347819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.714000	0.37961	2.130000	0.65690	0.528000	0.53228	AAA		0.453	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		C	123307998	T	C	123307998	3	2	160	1	0	0	0	0	1	0	0	0	3148	1841	64	3	5440	3	CDK5RAP2	9	123307998	Missense_Mutation	SNP	T	TCGA-B0-4843-01A-01D-1361-10	32809039	123307998	17905433	36	9454											
PTEN	5728	ucsc.edu	37	10	89685305	89685306	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	-	-	-	A	-	-	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr10:89685305_89685306insA	ENST00000371953.3	+	3	1557_1558	c.200_201insA	c.(199-204)atatacfs	p.Y68fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	68	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		Y -> H (in CWS1 and BRRS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117, ECO:0000269|PubMed:9600246}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.Y27fs*1(2)|p.I67K(1)|p.I67T(1)|p.I67_Y68insY(1)|p.I67del(1)|p.V54fs*29(1)|p.I67R(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CATTACAAGATATACAATCTGT	0.277		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	58	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(6)|Substitution - Missense(3)|Deletion - In frame(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	prostate(16)|central_nervous_system(13)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|ovary(3)|urinary_tract(2)|breast(2)|stomach(1)|soft_tissue(1)	GRCh37	CM981666	PTEN	M																																				SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.201dupA	10.37:g.89685306_89685306dupA	ENSP00000361021:p.Tyr68fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	CCDS31238.1																																																																																				0.277	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89685306	-	A	89685305	7	5	160	1	0	1	1	0	0	0	0	0	12743	1406	49	0	210	0	PTEN	10	89685305	Frame_Shift_Ins	INS	-	TCGA-B0-4843-01A-01D-1361-10		89685305	45849442	37	9455											
CYB5R2	51700	hgsc.bcm.edu;ucsc.edu	37	11	7686754	7686754	+	Missense_Mutation	SNP	C	C	T	rs112522871	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr11:7686754C>T	ENST00000533558.1	-	9	1238	c.682G>A	c.(682-684)Gtt>Att	p.V228I	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.V228I|CYB5R2_ENST00000524790.1_3'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	228					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGGCAGTAACGAAGCCTGAG	0.602											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													89	76	81					11																	7686754		2201	4296	6497	SO:0001583	missense	51700			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.682G>A	11.37:g.7686754C>T	ENSP00000437041:p.Val228Ile	643	Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	37	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.496425	0.01001	.	.	ENSG00000166394	ENST00000299498;ENST00000533558	D;D	0.90732	-2.72;-2.72	5.8	-4.05	0.03998	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.403083	0.26948	N	0.021693	T	0.74951	0.3784	N	0.12527	0.23	0.46222	D	0.998934	B	0.06786	0.001	B	0.09377	0.004	T	0.61544	-0.7041	10	0.02654	T	1	-2.7325	13.153	0.59500	0.0:0.4847:0.0:0.5153	.	228	Q6BCY4	NB5R2_HUMAN	I	228	ENSP00000299498:V228I;ENSP00000437041:V228I	ENSP00000299498:V228I	V	-	1	0	CYB5R2	7643330	0.001000	0.12720	0.000000	0.03702	0.061000	0.15899	-0.099000	0.11007	-0.795000	0.04462	-0.727000	0.03589	GTT		0.602	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		T	7686754	C	T	7686754	3	4	160	1	0	0	0	0	1	0	0	0	4129	536	19	1	152	1	CYB5R2	11	7686754	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10		7686754	127319762	38	9456											
PDHX	8050	hgsc.bcm.edu;ucsc.edu	37	11	35016578	35016578	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr11:35016578A>C	ENST00000227868.4	+	11	1449	c.1365A>C	c.(1363-1365)gaA>gaC	p.E455D	PDHX_ENST00000430469.2_Missense_Mutation_p.E228D|PDHX_ENST00000448838.3_Missense_Mutation_p.E440D|PDHX_ENST00000477173.3_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	455					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTGAGGATGAAGAGGGAAATG	0.498																																																0													129	121	124					11																	35016578		2202	4298	6500	SO:0001583	missense	8050			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.1365A>C	11.37:g.35016578A>C	ENSP00000227868:p.Glu455Asp		B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	CCDS7896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.35|12.35	1.911262|1.911262	0.33721|0.33721	.|.	.|.	ENSG00000110435|ENSG00000110435	ENST00000448838;ENST00000227868;ENST00000430469|ENST00000526309	T;T;T|.	0.47528|.	0.84;0.84;0.84|.	6.04|6.04	3.73|3.73	0.42828|0.42828	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);|.	0.089300|.	0.85682|.	D|.	0.000000|.	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.03016|0.03016	-0.435|-0.435	0.42662|0.42662	D|D	0.993487|0.993487	B;B;B|.	0.19935|.	0.001;0.04;0.005|.	B;B;B|.	0.23419|.	0.007;0.046;0.02|.	T|T	0.04400|0.04400	-1.0954|-1.0954	10|5	0.34782|.	T|.	0.22|.	-23.7515|-23.7515	5.75|5.75	0.18142|0.18142	0.7154:0.1433:0.1413:0.0|0.7154:0.1433:0.1413:0.0	.|.	228;440;455|.	E9PBP7;E9PB14;O00330|.	.;.;ODPX_HUMAN|.	D|T	440;455;228|143	ENSP00000389404:E440D;ENSP00000227868:E455D;ENSP00000415695:E228D|.	ENSP00000227868:E455D|.	E|K	+|+	3|2	2|0	PDHX|PDHX	34973154|34973154	0.960000|0.960000	0.32886|0.32886	1.000000|1.000000	0.80357|0.80357	0.705000|0.705000	0.40729|0.40729	0.673000|0.673000	0.25203|0.25203	0.527000|0.527000	0.28560|0.28560	0.460000|0.460000	0.39030|0.39030	GAA|AAG		0.498	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		C	35016578	A	C	35016578	3	2	160	1	0	0	0	0	1	0	0	0	11669	69	3	5	1526	5	PDHX	11	35016578	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10	27329824	35016578	99989938	39	9457											
CD82	3732	hgsc.bcm.edu	37	11	44640632	44640632	+	Missense_Mutation	SNP	C	C	T	rs201405906	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr11:44640632C>T	ENST00000227155.4	+	10	1008	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Missense_Mutation_p.R229W	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	254						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				large_intestine(1)|ovary(1)	2						CTGCTTGTGCCGGCACGTCCA	0.652													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17715	0.001		0.0	False		,,,				2504	0.0															0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	142	120	128		685,760	3.2	1	11		128	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	CD82	NM_001024844.1,NM_002231.3	101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	229/243,254/268	44640632	1,13003	2203	4299	6502	SO:0001583	missense	3732			U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"CD molecules", "Tetraspanins"	6210	protein-coding gene	gene with protein product	"suppression of tumorigenicity 6", "R2 leukocyte antigen"	600623	"kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))", "CD82 antigen"	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.760C>T	11.37:g.44640632C>T	ENSP00000227155:p.Arg254Trp		D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Missense_Mutation	SNP	ENST00000227155.4	37	CCDS7909.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409932	0.42715	0.0	1.16E-4	ENSG00000085117	ENST00000227155;ENST00000342935;ENST00000524750	T;T	0.81078	-1.45;-1.45	4.23	3.24	0.37175	.	0.184882	0.43416	D	0.000571	T	0.81683	0.4874	M	0.88105	2.93	0.44162	D	0.996966	P;P	0.50710	0.938;0.691	B;B	0.42798	0.398;0.152	D	0.84520	0.0627	10	0.87932	D	0	.	8.4405	0.32812	0.2328:0.7672:0.0:0.0	.	229;254	E9PC70;P27701	.;CD82_HUMAN	W	254;229;44	ENSP00000227155:R254W;ENSP00000339686:R229W	ENSP00000227155:R254W	R	+	1	2	CD82	44597208	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.611000	0.46334	1.896000	0.54893	0.462000	0.41574	CGG		0.652	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			T	44640632	C	T	44640632	3	4	160	1	0	0	0	0	1	0	0	0	3042	643	23	1	790	1	CD82	11	44640632	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	9624054	44640632	90365884	40	9458											
GPR152	390212	hgsc.bcm.edu;ucsc.edu	37	11	67218864	67218864	+	Silent	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr11:67218864G>A	ENST00000312457.2	-	1	1336	c.1332C>T	c.(1330-1332)gaC>gaT	p.D444D	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	444						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GTGTGGCTGGGTCCTCAAGGG	0.677																																					Pancreas(102;800 1581 2723 7382 33622)											0													36	40	39					11																	67218864		2200	4293	6493	SO:0001819	synonymous_variant	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.1332C>T	11.37:g.67218864G>A			Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	CCDS8165.1																																																																																				0.677	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			A	67218864	G	A	67218864	2	1	160	1	0	0	0	0	0	0	0	1	6660	1252	44	2		2	GPR152	11	67218864	Silent	SNP	G	TCGA-B0-4843-01A-01D-1361-10	22578232	67218864	67787652	41	9459											
MPZL3	196264	hgsc.bcm.edu	37	11	118106270	118106270	+	Silent	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr11:118106270A>G	ENST00000278949.4	-	4	541	c.486T>C	c.(484-486)ctT>ctC	p.L162L	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Silent_p.L150L			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	162					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CAAGGATGGAAAGAAGGGCCA	0.542																																																0													116	102	107					11																	118106270		2200	4296	6496	SO:0001819	synonymous_variant	196264			AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"Immunoglobulin superfamily / V-set domain containing"	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.486T>C	11.37:g.118106270A>G			A8K025|B4DLD5|B4E2I8	Silent	SNP	ENST00000278949.4	37	CCDS8392.1																																																																																				0.542	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		G	118106270	A	G	118106270	2	3	160	1	0	0	0	0	0	0	0	1	9753	1	1	3		3	MPZL3	11	118106270	Silent	SNP	A	TCGA-B0-4843-01A-01D-1361-10	50887406	118106270	16900246	42	9460											
LRRK2	120892	hgsc.bcm.edu;ucsc.edu	37	12	40758835	40758835	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:40758835T>G	ENST00000298910.7	+	49	7431	c.7373T>G	c.(7372-7374)aTg>aGg	p.M2458R		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2458					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCAGAGTCATGATGACAGCA	0.348																																																0													80	74	76					12																	40758835		2203	4299	6502	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7373T>G	12.37:g.40758835T>G	ENSP00000298910:p.Met2458Arg		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.644049	0.67244	.	.	ENSG00000188906	ENST00000298910	T	0.36520	1.25	5.29	5.29	0.74685	WD40 repeat-like-containing domain (1);	0.074410	0.85682	D	0.000000	T	0.48768	0.1518	M	0.66939	2.045	0.53005	D	0.999965	D;D	0.56035	0.974;0.974	P;P	0.50754	0.649;0.649	T	0.54886	-0.8226	10	0.87932	D	0	.	15.2476	0.73517	0.0:0.0:0.0:1.0	.	2458;2458	Q17RV3;Q5S007	.;LRRK2_HUMAN	R	2458	ENSP00000298910:M2458R	ENSP00000298910:M2458R	M	+	2	0	LRRK2	39045102	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.768000	0.68858	1.996000	0.58369	0.477000	0.44152	ATG		0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		G	40758835	T	G	40758835	3	3	160	1	0	0	0	0	1	0	0	0	9035	1464	51	5	7567	5	LRRK2	12	40758835	Missense_Mutation	SNP	T	TCGA-B0-4843-01A-01D-1361-10		40758835	93093060	43	9461											
MLL2	8085	hgsc.bcm.edu	37	12	49442448	49442448	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:49442448T>C	ENST00000301067.7	-	13	4124	c.4125A>G	c.(4123-4125)ctA>ctG	p.L1375L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1375					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTACCTGCATTAGGACAAATT	0.463																																																0													244	245	245					12																	49442448		2012	4175	6187	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4125A>G	12.37:g.49442448T>C			O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.463	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49442448	T	C	49442448	2	2	160	1	0	0	0	0	0	0	0	1	9623	1741	61	3		3	MLL2	12	49442448	Silent	SNP	T	TCGA-B0-4843-01A-01D-1361-10	8683613	49442448	84409447	44	9462											
DNAJC14	85406	hgsc.bcm.edu	37	12	56221611	56221611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:56221611G>A	ENST00000357606.3	-	3	1121	c.832C>T	c.(832-834)Caa>Taa	p.Q278*	DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.Q278*|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.Q278*|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	278					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTTTTCAGTTGCCTGCAGGCA	0.507																																																0													94	80	85					12																	56221611		2203	4300	6503	SO:0001587	stop_gained	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.832C>T	12.37:g.56221611G>A	ENSP00000350223:p.Gln278*		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Nonsense_Mutation	SNP	ENST00000357606.3	37	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	39	7.373284	0.98245	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287	.	.	.	5.18	3.3	0.37823	.	0.596334	0.17554	N	0.170070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.9963	4.8829	0.13688	0.178:0.0:0.645:0.177	.	.	.	.	X	278	.	.	Q	-	1	0	DNAJC14	54507878	0.999000	0.42202	0.997000	0.53966	0.995000	0.86356	1.798000	0.38814	0.637000	0.30526	0.655000	0.94253	CAA		0.507	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		A	56221611	G	A	56221611	4	1	160	1	0	0	0	0	0	1	0	0	4635	1328	46	2	1300	2	DNAJC14	12	56221611	Nonsense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10	6779163	56221611	77630284	45	9463											
PLEKHG7	440107	hgsc.bcm.edu	37	12	93147906	93147906	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:93147906C>G	ENST00000344636.3	+	6	540	c.356C>G	c.(355-357)cCa>cGa	p.P119R		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	119	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CTCCACGTGCCAGAGCTGCTA	0.502																																																0													104	92	96					12																	93147906		2203	4300	6503	SO:0001583	missense	440107			AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.356C>G	12.37:g.93147906C>G	ENSP00000344961:p.Pro119Arg		B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	C	7.545	0.661593	0.14645	.	.	ENSG00000187510	ENST00000344636	T	0.62105	0.05	5.32	4.43	0.53597	Dbl homology (DH) domain (4);	0.410373	0.28544	N	0.014974	T	0.46718	0.1407	N	0.25890	0.77	0.28372	N	0.919944	B	0.09022	0.002	B	0.12156	0.007	T	0.27673	-1.0067	10	0.13470	T	0.59	-5.6757	13.2001	0.59763	0.0:0.9222:0.0:0.0778	.	119	Q6ZR37	PKHG7_HUMAN	R	119	ENSP00000344961:P119R	ENSP00000344961:P119R	P	+	2	0	PLEKHG7	91672037	0.084000	0.21492	0.990000	0.47175	0.461000	0.32589	3.457000	0.53007	1.240000	0.43803	0.491000	0.48974	CCA		0.502	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		G	93147906	C	G	93147906	3	3	160	1	0	0	0	0	1	0	0	0	12077	594	21	4	374	4	PLEKHG7	12	93147906	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	36926295	93147906	40703989	46	9464											
C12orf51	283450	hgsc.bcm.edu	37	12	112616787	112616787	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:112616787G>A	ENST00000430131.2	-	63	11190	c.10045C>T	c.(10045-10047)Cgg>Tgg	p.R3349W	HECTD4_ENST00000550722.1_Missense_Mutation_p.R3625W|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3599W			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3349					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGATAGGCCGCTTGGTGCTC	0.622																																																0													30	33	32					12																	112616787		2054	4201	6255	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10045C>T	12.37:g.112616787G>A	ENSP00000404379:p.Arg3349Trp		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	26.5	4.742191	0.89573	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.55052	0.54;0.55;0.54	5.7	5.7	0.88788	.	.	.	.	.	T	0.58466	0.2124	N	0.19112	0.55	0.54753	D	0.999987	D	0.89917	1.0	D	0.74023	0.982	T	0.62900	-0.6756	9	0.87932	D	0	.	14.6392	0.68711	0.0:0.0:0.8545:0.1455	.	3349	Q9Y4D8	K0614_HUMAN	W	3599;3349;3625	ENSP00000366783:R3599W;ENSP00000404379:R3349W;ENSP00000449784:R3625W	ENSP00000366783:R3599W	R	-	1	2	C12orf51	111101170	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.789000	0.62446	2.678000	0.91216	0.655000	0.94253	CGG		0.622	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		A	112616787	G	A	112616787	3	1	160	1	0	0	0	0	1	0	0	0	1698	1086	38	1	1997	1	C12orf51	12	112616787	Missense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10	19468881	112616787	21235108	47	9465											
MSI1	4440	hgsc.bcm.edu;ucsc.edu	37	12	120805824	120805824	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:120805824A>C	ENST00000257552.2	-	4	342	c.254T>G	c.(253-255)cTc>cGc	p.L85R	RPS27P25_ENST00000477404.1_RNA	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	85	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGGAGTCGAGCTCGTGCCG	0.647																																																0													40	33	35					12																	120805824		2202	4299	6501	SO:0001583	missense	4440			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.254T>G	12.37:g.120805824A>C	ENSP00000257552:p.Leu85Arg		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.30|14.30	2.494599|2.494599	0.44352|0.44352	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000257552|ENST00000546985	D|.	0.86366|.	-2.11|.	3.24|3.24	3.24|3.24	0.37175|0.37175	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.103590|.	0.38778|.	N|.	0.001561|.	D|D	0.86171|0.86171	0.5869|0.5869	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	B|.	0.33477|.	0.413|.	P|.	0.44477|.	0.451|.	D|D	0.89592|0.89592	0.3828|0.3828	10|5	0.66056|.	D|.	0.02|.	.|.	11.6848|11.6848	0.51479|0.51479	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	85|.	O43347|.	MSI1H_HUMAN|.	R|A	85|17	ENSP00000257552:L85R|.	ENSP00000257552:L85R|.	L|S	-|-	2|1	0|0	MSI1|MSI1	119290207|119290207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	8.672000|8.672000	0.91181|0.91181	1.476000|1.476000	0.48215|0.48215	0.254000|0.254000	0.18369|0.18369	CTC|TCG		0.647	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		C	120805824	A	C	120805824	3	2	160	1	0	0	0	0	1	0	0	0	9877	304	11	5	878	5	MSI1	12	120805824	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10	8189037	120805824	13046071	48	9466											
TGM1	7051	hgsc.bcm.edu	37	14	24724346	24724346	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr14:24724346C>G	ENST00000206765.6	-	12	1882	c.1759G>C	c.(1759-1761)Gac>Cac	p.D587H	TGM1_ENST00000544573.1_Missense_Mutation_p.D145H	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	587					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ATCACCGCGTCCTGTGCCTCC	0.592																																																0													93	76	82					14																	24724346		2203	4300	6503	SO:0001583	missense	7051			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1759G>C	14.37:g.24724346C>G	ENSP00000206765:p.Asp587His		B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840742	0.51057	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.69175	-0.38;-0.38	5.18	4.29	0.51040	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.746413	0.13156	N	0.409429	T	0.73621	0.3610	L	0.59436	1.845	0.44104	D	0.996876	P	0.43542	0.81	P	0.52066	0.689	T	0.73522	-0.3956	10	0.66056	D	0.02	-38.449	12.9133	0.58192	0.0:0.92:0.0:0.08	.	587	P22735	TGM1_HUMAN	H	587;145	ENSP00000206765:D587H;ENSP00000439446:D145H	ENSP00000206765:D587H	D	-	1	0	TGM1	23794186	0.989000	0.36119	0.961000	0.40146	0.115000	0.19883	6.795000	0.75140	1.410000	0.46936	0.655000	0.94253	GAC		0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		G	24724346	C	G	24724346	3	3	160	1	0	0	0	0	1	0	0	0	15834	855	30	4	710	4	TGM1	14	24724346	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10		24724346	82625194	49	9467											
YLPM1	56252	hgsc.bcm.edu	37	14	75266224	75266224	+	Silent	SNP	T	T	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr14:75266224T>A	ENST00000325680.7	+	5	4348	c.4224T>A	c.(4222-4224)tcT>tcA	p.S1408S	YLPM1_ENST00000238571.3_Silent_p.S1213S|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1213					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGTACCCATCTGATGTGGATA	0.493																																																0													235	219	224					14																	75266224		1961	4145	6106	SO:0001819	synonymous_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4224T>A	14.37:g.75266224T>A			P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	CCDS45135.1																																																																																				0.493	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		A	75266224	T	A	75266224	2	1	160	1	0	0	0	0	0	0	0	1	17491	1567	55	5		5	YLPM1	14	75266224	Silent	SNP	T	TCGA-B0-4843-01A-01D-1361-10	50541878	75266224	32083316	50	9468											
RIN3	79890	hgsc.bcm.edu	37	14	93118739	93118739	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr14:93118739C>G	ENST00000216487.7	+	6	1504	c.1345C>G	c.(1345-1347)Ctg>Gtg	p.L449V	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	449	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CATGCCAGAGCTGCCCAGGAC	0.632																																																0													96	116	109					14																	93118739		2203	4300	6503	SO:0001583	missense	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1345C>G	14.37:g.93118739C>G	ENSP00000216487:p.Leu449Val		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.419695	0.00188	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.05786	3.39	4.22	3.25	0.37280	.	1.253670	0.05566	N	0.570223	T	0.05640	0.0148	N	0.25647	0.755	0.09310	N	0.999992	P;B;B;P	0.46220	0.874;0.001;0.001;0.801	B;B;B;B	0.41723	0.365;0.002;0.002;0.201	T	0.32929	-0.9888	10	0.32370	T	0.25	-1.4713	3.6432	0.08174	0.1456:0.477:0.2782:0.0991	.	449;495;374;449	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	V	449;373	ENSP00000216487:L449V	ENSP00000216487:L449V	L	+	1	2	RIN3	92188492	0.940000	0.31905	0.005000	0.12908	0.061000	0.15899	2.129000	0.42055	0.652000	0.30806	0.313000	0.20887	CTG		0.632	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			G	93118739	C	G	93118739	3	3	160	1	0	0	0	0	1	0	0	0	13379	796	28	4	1367	4	RIN3	14	93118739	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	17852515	93118739	14230801	51	9469											
SERPINA12	145264	hgsc.bcm.edu;ucsc.edu	37	14	94964183	94964183	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr14:94964183T>G	ENST00000341228.2	-	3	1347	c.552A>C	c.(550-552)aaA>aaC	p.K184N	SERPINA12_ENST00000556881.1_Missense_Mutation_p.K184N	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	184					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCCCATGGGTTTTTTGACTGA	0.398																																																0													92	88	89					14																	94964183		2203	4300	6503	SO:0001583	missense	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.552A>C	14.37:g.94964183T>G	ENSP00000342109:p.Lys184Asn			Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.062029	0.36373	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.85411	-1.98;-1.98	5.49	-0.758	0.11049	Serpin domain (3);	0.095661	0.45361	D	0.000365	D	0.86197	0.5875	M	0.77820	2.39	0.36413	D	0.863876	D	0.52996	0.957	P	0.50754	0.649	D	0.86427	0.1758	10	0.72032	D	0.01	.	9.5369	0.39229	0.0:0.3852:0.0:0.6148	.	184	Q8IW75	SPA12_HUMAN	N	184	ENSP00000451738:K184N;ENSP00000342109:K184N	ENSP00000342109:K184N	K	-	3	2	SERPINA12	94033936	1.000000	0.71417	0.554000	0.28268	0.076000	0.17211	1.101000	0.31037	-0.135000	0.11495	0.533000	0.62120	AAA		0.398	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		G	94964183	T	G	94964183	3	3	160	1	0	0	0	0	1	0	0	0	14095	1838	64	5	708	5	SERPINA12	14	94964183	Missense_Mutation	SNP	T	TCGA-B0-4843-01A-01D-1361-10	1845444	94964183	12385357	52	9470											
DYNC1H1	1778	hgsc.bcm.edu;ucsc.edu	37	14	102505179	102505179	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr14:102505179C>T	ENST00000360184.4	+	59	11364	c.11200C>T	c.(11200-11202)Ctt>Ttt	p.L3734F	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3734	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCTTCTTAAACTTCAAGGTAG	0.443																																																0													152	146	148					14																	102505179		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11200C>T	14.37:g.102505179C>T	ENSP00000348965:p.Leu3734Phe		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.004053|5.004053	0.93287|0.93287	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000360184|ENST00000553423	T|.	0.63417|.	-0.04|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87732|0.87732	0.6251|0.6251	H|H	0.94423|0.94423	3.535|3.535	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	D|D	0.90474|0.90474	0.4455|0.4455	10|5	0.56958|.	D|.	0.05|.	.|.	19.8182|19.8182	0.96579|0.96579	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3734|.	Q14204|.	DYHC1_HUMAN|.	F|I	3734|160	ENSP00000348965:L3734F|.	ENSP00000348965:L3734F|.	L|T	+|+	1|2	0|0	DYNC1H1|DYNC1H1	101574932|101574932	1.000000|1.000000	0.71417|0.71417	0.136000|0.136000	0.22124|0.22124	0.909000|0.909000	0.53808|0.53808	6.088000|6.088000	0.71371|0.71371	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	CTT|ACT		0.443	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		T	102505179	C	T	102505179	3	4	160	1	0	0	0	0	1	0	0	0	4843	565	20	2	11434	2	DYNC1H1	14	102505179	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	7540996	102505179	4844361	53	9471											
DISP2	85455	hgsc.bcm.edu;ucsc.edu	37	15	40661375	40661375	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr15:40661375T>C	ENST00000267889.3	+	8	3149	c.3062T>C	c.(3061-3063)tTt>tCt	p.F1021S	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1021					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GAGGCCCTGTTTCTCTCTGCC	0.597																																																0													77	73	74					15																	40661375		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3062T>C	15.37:g.40661375T>C	ENSP00000267889:p.Phe1021Ser		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.750549	0.31046	.	.	ENSG00000140323	ENST00000267889	D	0.91686	-2.89	4.88	4.88	0.63580	.	0.050869	0.85682	D	0.000000	D	0.92954	0.7758	L	0.40543	1.245	0.45272	D	0.998276	D	0.76494	0.999	D	0.68943	0.961	D	0.90932	0.4791	10	0.21014	T	0.42	-12.7758	14.6562	0.68835	0.0:0.0:0.0:1.0	.	1021	A7MBM2	DISP2_HUMAN	S	1021	ENSP00000267889:F1021S	ENSP00000267889:F1021S	F	+	2	0	DISP2	38448667	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	4.105000	0.57797	2.045000	0.60652	0.418000	0.28097	TTT		0.597	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		C	40661375	T	C	40661375	3	2	160	1	0	0	0	0	1	0	0	0	4542	1841	64	3	3092	3	DISP2	15	40661375	Missense_Mutation	SNP	T	TCGA-B0-4843-01A-01D-1361-10		40661375	61870017	54	9472											
LEO1	123169	hgsc.bcm.edu;ucsc.edu	37	15	52242167	52242167	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr15:52242167A>G	ENST00000299601.5	-	10	1696	c.1636T>C	c.(1636-1638)Tcc>Ccc	p.S546P	LEO1_ENST00000315141.5_Missense_Mutation_p.S486P	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	546					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CTACGTATGGAAGCCCTCAAA	0.468																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)											0													61	55	57					15																	52242167		2195	4293	6488	SO:0001583	missense	123169			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1636T>C	15.37:g.52242167A>G	ENSP00000299601:p.Ser546Pro		Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	.	27.9	4.874660	0.91664	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.38	5.38	0.77491	.	0.103529	0.64402	D	0.000002	T	0.68284	0.2984	L	0.58810	1.83	0.80722	D	1	P;D	0.58620	0.935;0.983	P;P	0.59288	0.786;0.855	T	0.66156	-0.5994	9	0.31617	T	0.26	.	15.7037	0.77560	1.0:0.0:0.0:0.0	.	486;546	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	P	546;524;486	.	ENSP00000299601:S546P	S	-	1	0	LEO1	50029459	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.129000	0.94430	2.171000	0.68590	0.533000	0.62120	TCC		0.468	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		G	52242167	A	G	52242167	3	3	160	1	0	0	0	0	1	0	0	0	8728	246	9	3	376	3	LEO1	15	52242167	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10	11580792	52242167	50289225	55	9473											
ZNF598	90850	hgsc.bcm.edu	37	16	2050421	2050421	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr16:2050421T>C	ENST00000563630.1	-	8	1340	c.1098A>G	c.(1096-1098)ccA>ccG	p.P366P	ZNF598_ENST00000562103.1_Silent_p.P366P|ZNF598_ENST00000431526.1_Silent_p.P421P|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	421							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CTGGGGCGGCTGGGCCTGTCA	0.647																																																0													49	60	56					16																	2050421		1952	4130	6082	SO:0001819	synonymous_variant	90850			BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1098A>G	16.37:g.2050421T>C			Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37																																																																																					0.647	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		C	2050421	T	C	2050421	2	2	160	1	0	0	0	0	0	0	0	1	18033	1567	55	3		3	ZNF598	16	2050421	Silent	SNP	T	TCGA-B0-4843-01A-01D-1361-10		2050421	88304332	56	9474											
UQCRC2	7385	hgsc.bcm.edu	37	16	21982911	21982911	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr16:21982911T>C	ENST00000268379.4	+	9	1500	c.736T>C	c.(736-738)Tta>Cta	p.L246L	UQCRC2_ENST00000561553.1_Silent_p.L246L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	246					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TGGGCTTGGTTTATCTGGTGC	0.428																																					Colon(123;450 1645 12841 25393 45623)											0													132	120	124					16																	21982911		2198	4300	6498	SO:0001819	synonymous_variant	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.736T>C	16.37:g.21982911T>C			B3KSN4|Q9BQ05	Silent	SNP	ENST00000268379.4	37	CCDS10601.1																																																																																				0.428	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		C	21982911	T	C	21982911	2	2	160	1	0	0	0	0	0	0	0	1	17025	1838	64	3		3	UQCRC2	16	21982911	Silent	SNP	T	TCGA-B0-4843-01A-01D-1361-10	19932490	21982911	68371842	57	9475											
NEURL4	84461	hgsc.bcm.edu	37	17	7224230	7224230	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr17:7224230C>T	ENST00000399464.2	-	21	3388	c.3373G>A	c.(3373-3375)Gtg>Atg	p.V1125M	NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000315614.7_Missense_Mutation_p.V1123M|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.V1101M	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1125						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATAATACCCACTTCATTCTGG	0.547																																																0													122	124	123					17																	7224230		2007	4177	6184	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3373G>A	17.37:g.7224230C>T	ENSP00000382390:p.Val1125Met		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	5.408	0.260405	0.10239	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.32023	1.47;1.47	4.6	2.62	0.31277	.	0.684102	0.14287	N	0.329128	T	0.16085	0.0387	N	0.14661	0.345	0.19575	N	0.999964	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19192	-1.0313	10	0.34782	T	0.22	-6.4703	6.095	0.20015	0.0:0.6906:0.0:0.3094	.	1123;1125	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	M	1123;1125	ENSP00000319826:V1123M;ENSP00000382390:V1125M	ENSP00000319826:V1123M	V	-	1	0	NEURL4	7164954	1.000000	0.71417	0.852000	0.33557	0.318000	0.28184	0.689000	0.25437	0.566000	0.29273	0.462000	0.41574	GTG		0.547	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		T	7224230	C	T	7224230	3	4	160	1	0	0	0	0	1	0	0	0	10349	565	20	2	1351	2	NEURL4	17	7224230	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10		7224230	73970980	58	9476											
LGALS9C	654346	hgsc.bcm.edu;ucsc.edu	37	17	18387268	18387268	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr17:18387268G>C	ENST00000328114.6	+	2	200	c.119G>C	c.(118-120)tGc>tCc	p.C40S	LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000581545.1_Missense_Mutation_p.C40S|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.C40S|LGALS9C_ENST00000584941.1_Missense_Mutation_p.C40S	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	40	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						GTTCTCAGCTGCAGTGGAACC	0.547																																																0													198	132	156					17																	18387268		2131	3751	5882	SO:0001583	missense	654346				CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"Lectins, galactoside-binding"	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.119G>C	17.37:g.18387268G>C	ENSP00000329932:p.Cys40Ser		B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	N	3.575	-0.086727	0.07097	.	.	ENSG00000171916	ENST00000328114	T	0.09163	3.01	2.77	-3.41	0.04839	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.238380	0.05452	N	0.549674	T	0.02418	0.0074	N	0.00801	-1.175	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	9	0.02654	T	1	.	5.4589	0.16606	0.0:0.2643:0.4886:0.2471	.	40	Q6DKI2	LEG9C_HUMAN	S	40	ENSP00000329932:C40S	ENSP00000329932:C40S	C	+	2	0	LGALS9C	18327993	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.264000	0.18497	-1.421000	0.02007	-1.123000	0.02005	TGC		0.547	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		C	18387268	G	C	18387268	3	2	160	1	0	0	0	0	1	0	0	0	8752	1319	46	4	125	4	LGALS9C	17	18387268	Missense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10	11163038	18387268	62807942	59	9477											
PCGF2	7703	hgsc.bcm.edu	37	17	36895856	36895856	+	Silent	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr17:36895856C>T	ENST00000580830.1	-	5	893	c.192G>A	c.(190-192)cgG>cgA	p.R64R	PCGF2_ENST00000360797.2_Silent_p.R64R|PCGF2_ENST00000585100.1_Silent_p.R64R|PCGF2_ENST00000578109.1_Silent_p.R10R|PCGF2_ENST00000581345.1_Silent_p.R64R|PCGF2_ENST00000579882.1_Silent_p.R64R			P35227	PCGF2_HUMAN	polycomb group ring finger 2	64					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCAGCAGCGGCCGGGTTTTAT	0.617																																																0													142	114	124					17																	36895856		2203	4300	6503	SO:0001819	synonymous_variant	7703			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.192G>A	17.37:g.36895856C>T			A6NGD8	Silent	SNP	ENST00000580830.1	37	CCDS32638.1																																																																																				0.617	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		T	36895856	C	T	36895856	2	4	160	1	0	0	0	0	0	0	0	1	11577	726	26	2		2	PCGF2	17	36895856	Silent	SNP	C	TCGA-B0-4843-01A-01D-1361-10	18508588	36895856	44299354	60	9478											
HELZ	9931	hgsc.bcm.edu	37	17	65119196	65119196	+	Silent	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr17:65119196A>G	ENST00000358691.5	-	26	3686	c.3520T>C	c.(3520-3522)Ttg>Ctg	p.L1174L	HELZ_ENST00000580168.1_Silent_p.L1175L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1174						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GATTTTCCCAAATTTGGGTGA	0.418																																																0													93	90	91					17																	65119196		1857	4090	5947	SO:0001819	synonymous_variant	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3520T>C	17.37:g.65119196A>G			I6L9H4	Silent	SNP	ENST00000358691.5	37	CCDS42374.1																																																																																				0.418	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		G	65119196	A	G	65119196	2	3	160	1	0	0	0	0	0	0	0	1	7051	11	1	3		3	HELZ	17	65119196	Silent	SNP	A	TCGA-B0-4843-01A-01D-1361-10	28223340	65119196	16076014	61	9479											
CD300LB	124599	hgsc.bcm.edu	37	17	72527588	72527588	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr17:72527588A>T	ENST00000392621.1	-	1	17	c.13T>A	c.(13-15)Tgc>Agc	p.C5S	CD300LB_ENST00000314401.3_Missense_Mutation_p.C5S	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	0					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCTGGCTTGCACCTTCTGCAC	0.488																																																0													79	71	74					17																	72527588		2203	4300	6503	SO:0001583	missense	124599			AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.13T>A	17.37:g.72527588A>T	ENSP00000376397:p.Cys5Ser		Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	A	7.436	0.639761	0.14386	.	.	ENSG00000178789	ENST00000314401	T	0.05258	3.47	3.94	-5.63	0.02474	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B	0.22346	0.068	B	0.15052	0.012	T	0.45542	-0.9254	9	0.15952	T	0.53	.	0.8166	0.01103	0.2502:0.2646:0.2989:0.1863	.	5	B4DQ71	.	S	5	ENSP00000317337:C5S	ENSP00000317337:C5S	C	-	1	0	CD300LB	70039183	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.823000	0.04443	-1.435000	0.01972	0.383000	0.25322	TGC		0.488	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		T	72527588	A	T	72527588	3	4	160	1	0	0	0	0	1	0	0	0	3001	159	6	5	719	5	CD300LB	17	72527588	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10	7408392	72527588	8667622	62	9480											
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9074004	9074004	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr19:9074004G>T	ENST00000397910.4	-	3	13645	c.13442C>A	c.(13441-13443)tCt>tAt	p.S4481Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4483	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGTCGCAGAAACAGGAGA	0.468																																																0													137	130	132					19																	9074004		2023	4174	6197	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13442C>A	19.37:g.9074004G>T	ENSP00000381008:p.Ser4481Tyr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.796	-0.250300	0.05867	.	.	ENSG00000181143	ENST00000397910	T	0.23348	1.91	2.22	-1.64	0.08318	.	.	.	.	.	T	0.25082	0.0609	L	0.29908	0.895	.	.	.	D	0.53462	0.96	P	0.56865	0.808	T	0.28902	-1.0029	8	0.87932	D	0	.	2.7296	0.05223	0.3419:0.2547:0.4033:0.0	.	4481	B5ME49	.	Y	4481	ENSP00000381008:S4481Y	ENSP00000381008:S4481Y	S	-	2	0	MUC16	8935004	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.741000	0.26202	-0.283000	0.09115	0.313000	0.20887	TCT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9074004	G	T	9074004	3	4	160	1	0	0	0	0	1	0	0	0	9975	942	33	4	30409	4	MUC16	19	9074004	Missense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10		9074004	50054979	63	9481											
SMARCA4	6597	hgsc.bcm.edu	37	19	11145750	11145750	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr19:11145750C>A	ENST00000429416.3	+	30	4393	c.4112C>A	c.(4111-4113)tCc>tAc	p.S1371Y	SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1338Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1371Y|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1338Y|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1338Y|SMARCA4_ENST00000358026.2_Missense_Mutation_p.S1371Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1338Y|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1338Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1338Y	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1371					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCGTGGCTCCCGCCACCGC	0.647			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											44	36	39					19																	11145750		2203	4299	6502	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4112C>A	19.37:g.11145750C>A	ENSP00000395654:p.Ser1371Tyr		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	c	26.2	4.715526	0.89112	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.87491	-2.24;-2.19;-2.24;-2.26;-2.26;-2.26;-2.26	4.59	4.59	0.56863	.	0.082414	0.64402	D	0.000020	D	0.93654	0.7973	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;P;D	0.89917	0.994;0.988;0.988;0.994;1.0;0.939;0.988	D;P;P;D;D;P;D	0.87578	0.921;0.885;0.885;0.921;0.998;0.535;0.921	D	0.94616	0.7809	10	0.87932	D	0	-32.9733	16.3525	0.83220	0.0:1.0:0.0:0.0	.	1338;1338;1338;1371;1338;558;1371	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	Y	1371;1371;1402;1371;1338;1338;1338;1338	ENSP00000395654:S1371Y;ENSP00000350720:S1371Y;ENSP00000343896:S1371Y;ENSP00000445036:S1338Y;ENSP00000392837:S1338Y;ENSP00000397783:S1338Y;ENSP00000414727:S1338Y	ENSP00000343896:S1371Y	S	+	2	0	SMARCA4	11006750	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.546000	0.82137	2.385000	0.81259	0.558000	0.71614	TCC		0.647	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		A	11145750	C	A	11145750	3	1	160	1	0	0	0	0	1	0	0	0	14776	855	30	4	4222	4	SMARCA4	19	11145750	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	2071746	11145750	47983233	64	9482											
ZNF43	7594	hgsc.bcm.edu;ucsc.edu	37	19	21992281	21992281	+	Silent	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr19:21992281A>C	ENST00000354959.4	-	4	727	c.558T>G	c.(556-558)ctT>ctG	p.L186L	ZNF43_ENST00000595461.1_Silent_p.L180L|ZNF43_ENST00000598381.1_Silent_p.L180L|ZNF43_ENST00000594012.1_Silent_p.L180L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTAGATGTGGAAGCATGCAAA	0.313																																																0													43	43	43					19																	21992281		2202	4298	6500	SO:0001819	synonymous_variant	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.558T>G	19.37:g.21992281A>C			A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																				0.313	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		C	21992281	A	C	21992281	2	2	160	1	0	0	0	0	0	0	0	1	17908	233	9	5		5	ZNF43	19	21992281	Silent	SNP	A	TCGA-B0-4843-01A-01D-1361-10	10846531	21992281	37136702	65	9483											
CEACAM5	1048	hgsc.bcm.edu	37	19	42213868	42213868	+	Missense_Mutation	SNP	A	A	G	rs34155934	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr19:42213868A>G	ENST00000221992.6	+	2	448	c.334A>G	c.(334-336)Atc>Gtc	p.I112V	CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000398599.4_Missense_Mutation_p.I112V|CEA_ENST00000598976.1_Missense_Mutation_p.I112V|CEACAM5_ENST00000405816.1_Missense_Mutation_p.I112V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	112	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GATCCAGAACATCATCCAGAA	0.453													a|||	649	0.129593	0.2799	0.0865	5008	,	,		19981	0.0		0.1958	False		,,,				2504	0.0225															0								A	VAL/ILE	1093,3313		181,731,1291	230	234	233		334	-0.9	0	19	dbSNP_126	233	1294,7306		115,1064,3121	no	missense	CEACAM5	NM_004363.2	29	296,1795,4412	GG,GA,AA		15.0465,24.8071,18.3531	benign	112/703	42213868	2387,10619	2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.334A>G	19.37:g.42213868A>G	ENSP00000221992:p.Ile112Val		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	261|261	0.11950549450549451|0.11950549450549451	96|96	0.1951219512195122|0.1951219512195122	34|34	0.09392265193370165|0.09392265193370165	0|0	0.0|0.0	131|131	0.17282321899736147|0.17282321899736147	-|-	0.008|0.008	-1.883991|-1.883991	0.00532|0.00532	0.248071|0.248071	0.150465|0.150465	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.63255	.|-0.03;-0.03	3.09|3.09	-0.944|-0.944	0.10392|0.10392	.|Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00026|0.00026	-2.66|-2.66	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.18741	.|0.03;0.0;0.0	.|B;B;B	.|0.28305	.|0.088;0.002;0.002	T|T	0.30563|0.30563	-0.9974|-0.9974	4|8	.|0.02654	.|T	.|1	.|.	3.103|3.103	0.06333|0.06333	0.3082:0.2268:0.465:0.0|0.3082:0.2268:0.465:0.0	rs34155934|rs34155934	.|112;112;112	.|Q8N4D0;P06731;Q53G30	.|.;CEAM5_HUMAN;.	R|V	108|112	.|ENSP00000221992:I112V;ENSP00000385072:I112V	.|ENSP00000221992:I112V	H|I	+|+	2|1	0|0	CEACAM5|CEACAM5	46905708|46905708	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.011000|0.011000	0.07611|0.07611	-0.152000|-0.152000	0.10159|0.10159	0.127000|0.127000	0.18452|0.18452	-0.769000|-0.769000	0.03391|0.03391	CAT|ATC		0.453	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		G	42213868	A	G	42213868	3	3	160	1	0	0	0	0	1	0	0	0	3197	217	8	3	340	3	CEACAM5	19	42213868	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10	20221587	42213868	16915115	66	9484											
EXOC3L2	90332	hgsc.bcm.edu;ucsc.edu	37	19	45731306	45731306	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr19:45731306T>C	ENST00000252482.3	-	3	246	c.219A>G	c.(217-219)gcA>gcG	p.A73A	EXOC3L2_ENST00000413988.1_Silent_p.A73A			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	73					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TGATGCGGGGTGCTCGCTCTG	0.637																																																0													59	52	54					19																	45731306		2203	4300	6503	SO:0001819	synonymous_variant	90332			AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.219A>G	19.37:g.45731306T>C			Q8N9W2|Q96GV2	Silent	SNP	ENST00000252482.3	37	CCDS12657.1																																																																																				0.637	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		C	45731306	T	C	45731306	2	2	160	1	0	0	0	0	0	0	0	1	5307	1683	59	3		3	EXOC3L2	19	45731306	Silent	SNP	T	TCGA-B0-4843-01A-01D-1361-10	3517438	45731306	13397677	67	9485											
RALGAPB	57148	hgsc.bcm.edu;ucsc.edu	37	20	37146211	37146211	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr20:37146211C>G	ENST00000262879.6	+	8	1398	c.1114C>G	c.(1114-1116)Caa>Gaa	p.Q372E	RALGAPB_ENST00000397040.1_Missense_Mutation_p.Q372E|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397038.1_Missense_Mutation_p.Q150E|RALGAPB_ENST00000537204.1_Missense_Mutation_p.Q372E|RALGAPB_ENST00000397042.3_Missense_Mutation_p.Q372E			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	372					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAGTATGCCTCAAAGTGCTGC	0.438																																																0													142	133	136					20																	37146211		2203	4300	6503	SO:0001583	missense	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1114C>G	20.37:g.37146211C>G	ENSP00000262879:p.Gln372Glu		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	7.011	0.556711	0.13436	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.07	5.07	0.68467	.	0.053488	0.85682	D	0.000000	T	0.42585	0.1209	N	0.22421	0.69	0.49389	D	0.999788	B;B;B;B;B	0.18863	0.031;0.009;0.017;0.009;0.009	B;B;B;B;B	0.16722	0.016;0.009;0.016;0.009;0.009	T	0.34229	-0.9837	9	0.07175	T	0.84	.	17.8087	0.88609	0.0:1.0:0.0:0.0	.	372;200;372;372;372	B4E2E8;A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;.;RLGPB_HUMAN	E	372;372;372;150;372;372;200	.	ENSP00000262879:Q372E	Q	+	1	0	RALGAPB	36579625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.955000	0.76007	2.515000	0.84797	0.555000	0.69702	CAA		0.438	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		G	37146211	C	G	37146211	3	3	160	1	0	0	0	0	1	0	0	0	13021	827	29	4	1140	4	RALGAPB	20	37146211	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10		37146211	25879309	68	9486											
DPM1	8813	hgsc.bcm.edu	37	20	49574946	49574946	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr20:49574946T>A	ENST00000371588.5	-	1	141	c.115A>T	c.(115-117)Aac>Tac	p.N39Y	MOCS3_ENST00000244051.1_5'Flank|DPM1_ENST00000371583.5_Missense_Mutation_p.N39Y|DPM1_ENST00000371582.4_Missense_Mutation_p.N39Y|DPM1_ENST00000466152.1_5'UTR	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	39					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AGCGGCAGGTTCTCGCGCTCG	0.587																																																0													52	45	47					20																	49574946		2203	4300	6503	SO:0001583	missense	8813			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.115A>T	20.37:g.49574946T>A	ENSP00000360644:p.Asn39Tyr		O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.245986|5.245986	0.95272|0.95272	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371584|ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082	T|T;T;T;T	0.62498|0.57595	0.02|0.39;0.39;0.39;0.39	5.8|5.8	5.8|5.8	0.92144|0.92144	.|Glycosyl transferase, family 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85818|0.85818	0.5785|0.5785	H|H	0.99838|0.99838	4.83|4.83	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.92449|0.92449	0.5968|0.5968	6|9	.|.	.|.	.|.	-17.8902|-17.8902	15.8123|15.8123	0.78573|0.78573	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|39	.|O60762	.|DPM1_HUMAN	V|Y	38|39	ENSP00000360640:E38V|ENSP00000360644:N39Y;ENSP00000360638:N39Y;ENSP00000360639:N39Y;ENSP00000394921:N39Y	.|.	E|N	-|-	2|1	0|0	DPM1|DPM1	49008353|49008353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	5.268000|5.268000	0.65536|0.65536	2.207000|2.207000	0.71202|0.71202	0.528000|0.528000	0.53228|0.53228	GAA|AAC		0.587	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		A	49574946	T	A	49574946	3	1	160	1	0	0	0	0	1	0	0	0	4726	1783	62	5	703	5	DPM1	20	49574946	Missense_Mutation	SNP	T	TCGA-B0-4843-01A-01D-1361-10	12428735	49574946	13450574	69	9487											
BACH1	571	hgsc.bcm.edu	37	21	30714963	30714963	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr21:30714963G>T	ENST00000399921.1	+	5	2263	c.2020G>T	c.(2020-2022)Gac>Tac	p.D674Y	BACH1_ENST00000286800.3_Missense_Mutation_p.D674Y	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CAGTTTATCTGACCGGCCTCC	0.507																																																0													67	72	70					21																	30714963		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.2020G>T	21.37:g.30714963G>T	ENSP00000382805:p.Asp674Tyr		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643119	0.29246	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.72167	-0.63;-0.63	4.98	1.81	0.25067	.	0.501018	0.18788	N	0.131121	T	0.56485	0.1988	L	0.29908	0.895	0.09310	N	1	B	0.25169	0.119	B	0.26517	0.07	T	0.53570	-0.8420	10	0.72032	D	0.01	-0.2668	8.9164	0.35585	0.1564:0.2415:0.6021:0.0	.	674	O14867	BACH1_HUMAN	Y	674	ENSP00000286800:D674Y;ENSP00000382805:D674Y	ENSP00000286800:D674Y	D	+	1	0	BACH1	29636834	0.347000	0.24853	0.010000	0.14722	0.199000	0.23934	1.894000	0.39768	0.603000	0.29913	-0.355000	0.07637	GAC		0.507	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		T	30714963	G	T	30714963	3	4	160	1	0	0	0	0	1	0	0	0	1283	1290	45	4	2034	4	BACH1	21	30714963	Missense_Mutation	SNP	G	TCGA-B0-4843-01A-01D-1361-10		30714963	17414932	70	9488											
KRTAP12-3	386683	hgsc.bcm.edu	37	21	46078132	46078132	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr21:46078132C>A	ENST00000397907.1	+	1	284	c.236C>A	c.(235-237)cCc>cAc	p.P79H	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	79	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGCCAGCCCCCCTGCACCACT	0.642																																																0													62	70	67					21																	46078132		2089	4211	6300	SO:0001583	missense	386683			AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"Keratin associated proteins"	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.236C>A	21.37:g.46078132C>A	ENSP00000381005:p.Pro79His			Missense_Mutation	SNP	ENST00000397907.1	37	CCDS42964.1	.	.	.	.	.	.	.	.	.	.	c	4.670	0.124563	0.08931	.	.	ENSG00000205439	ENST00000546091;ENST00000397907	T	0.06371	3.31	4.06	2.18	0.27775	.	.	.	.	.	T	0.04634	0.0126	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37776	-0.9691	8	0.40728	T	0.16	.	5.0833	0.14668	0.205:0.684:0.0:0.111	.	79	P60328	KR123_HUMAN	H	63;79	ENSP00000381005:P79H	ENSP00000381005:P79H	P	+	2	0	KRTAP12-3	44902560	0.000000	0.05858	0.357000	0.25798	0.011000	0.07611	0.309000	0.19332	0.899000	0.36444	-0.488000	0.04728	CCC		0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			A	46078132	C	A	46078132	3	1	160	1	0	0	0	0	1	0	0	0	8522	623	22	4	238	4	KRTAP12-3	21	46078132	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	15363169	46078132	2051763	71	9489											
GSTT2	653689	hgsc.bcm.edu	37	22	24300634	24300634	+	Silent	SNP	G	G	T	rs56104230	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr22:24300634G>T	ENST00000290765.4	-	4	417	c.363C>A	c.(361-363)ccC>ccA	p.P121P	GSTT2B_ENST00000404172.3_Silent_p.P121P	NM_001080843.2	NP_001074312.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2B (gene/pseudogene)	121	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)										CCCCAATGAGGGGCCCCAACA	0.622													.|||	4258	0.85024	0.9425	0.6758	5008	,	,		11754	0.8056		0.834	False		,,,				2504	0.9121															0													8	12	11					22																	24300634		1689	3381	5070	SO:0001819	synonymous_variant	653689			BC071700	CCDS33617.1	22q11.23	2012-06-21			ENSG00000133433	ENSG00000133433	2.5.1.18	"Glutathione S-transferases / Soluble"	33437	protein-coding gene	gene with protein product						9729470	Standard	NM_001080843		Approved	GSTT2P		P0CG30	OTTHUMG00000150774	ENST00000290765.4:c.363C>A	22.37:g.24300634G>T			O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	ENST00000290765.4	37	CCDS33617.1																																																																																				0.622	GSTT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320012.1	NM_001080843		T	24300634	G	T	24300634	2	4	160	1	0	0	0	0	0	0	0	1	6848	1219	43	4		4	GSTT2	22	24300634	Silent	SNP	G	TCGA-B0-4843-01A-01D-1361-10		24300634	27003932	72	9490											
PIWIL3	440822	hgsc.bcm.edu	37	22	25145728	25145728	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr22:25145728C>A	ENST00000332271.5	-	10	1564	c.1148G>T	c.(1147-1149)tGg>tTg	p.W383L	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.W274L|PIWIL3_ENST00000533313.1_Missense_Mutation_p.W274L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	383	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCCCTTTTTCCATCTGCCCTG	0.473																																																0													152	119	130					22																	25145728		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1148G>T	22.37:g.25145728C>A	ENSP00000330031:p.Trp383Leu			Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	4.115	0.019430	0.08006	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.13307	2.6;2.6;2.6	2.29	2.29	0.28610	Argonaute/Dicer protein, PAZ (4);	0.258179	0.22912	U	0.054126	T	0.14527	0.0351	L	0.28115	0.83	0.28204	N	0.927228	P;B;B	0.38788	0.647;0.012;0.29	P;B;B	0.48873	0.593;0.009;0.356	T	0.07790	-1.0754	10	0.33141	T	0.24	-11.1612	10.673	0.45770	0.0:1.0:0.0:0.0	.	274;383;383	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	L	383;274;274	ENSP00000330031:W383L;ENSP00000431843:W274L;ENSP00000435718:W274L	ENSP00000330031:W383L	W	-	2	0	PIWIL3	23475728	0.969000	0.33509	0.805000	0.32314	0.293000	0.27360	1.203000	0.32284	1.610000	0.50200	0.313000	0.20887	TGG		0.473	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		A	25145728	C	A	25145728	3	1	160	1	0	0	0	0	1	0	0	0	11961	595	21	4	1548	4	PIWIL3	22	25145728	Missense_Mutation	SNP	C	TCGA-B0-4843-01A-01D-1361-10	845094	25145728	26158838	73	9491											
ASB12	142689	hgsc.bcm.edu	37	X	63445177	63445177	+	Silent	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chrX:63445177A>G	ENST00000396130.2	-	1	326	c.327T>C	c.(325-327)caT>caC	p.H109H	MTMR8_ENST00000453546.1_Silent_p.H493H|ASB12_ENST00000362002.2_Silent_p.H118H			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	109					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						CACAGTCCAGATGGCCATGAC	0.532																																																2	Whole gene deletion(2)	ovary(1)|large_intestine(1)											112	65	81					X																	63445177		2203	4300	6503	SO:0001819	synonymous_variant	142689			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.327T>C	X.37:g.63445177A>G			J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37																																																																																					0.532	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				G	63445177	A	G	63445177	2	3	160	1	0	0	0	0	0	0	0	1	1016	330	12	3		3	ASB12	23	63445177	Silent	SNP	A	TCGA-B0-4843-01A-01D-1361-10		63445177	91825383	74	9492											
LRCH2	57631	hgsc.bcm.edu	37	X	114357118	114357118	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chrX:114357118T>C	ENST00000317135.8	-	20	2180	c.2150A>G	c.(2149-2151)gAt>gGt	p.D717G	LRCH2_ENST00000538422.1_Missense_Mutation_p.D700G	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	717	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTTACAAGCATCAAGAAAATT	0.328																																																0													92	78	82					X																	114357118		1821	4071	5892	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2150A>G	X.37:g.114357118T>C	ENSP00000325091:p.Asp717Gly		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887328	0.72410	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.95238	-3.65;-3.65	5.37	5.37	0.77165	Calponin homology domain (5);	0.052453	0.85682	D	0.000000	D	0.96228	0.8770	L	0.59436	1.845	0.58432	D	0.999999	D;B	0.76494	0.999;0.041	D;B	0.85130	0.997;0.087	D	0.96607	0.9449	10	0.87932	D	0	-18.2758	13.1767	0.59630	0.0:0.0:0.0:1.0	.	717;700	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	G	717;196;700	ENSP00000325091:D717G;ENSP00000439366:D700G	ENSP00000325091:D717G	D	-	2	0	LRCH2	114263374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.326000	0.79133	1.993000	0.58246	0.441000	0.28932	GAT		0.328	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		C	114357118	T	C	114357118	3	2	160	1	0	0	0	0	1	0	0	0	8935	1435	50	3	155	3	LRCH2	23	114357118	Missense_Mutation	SNP	T	TCGA-B0-4843-01A-01D-1361-10	50911941	114357118	40913442	75	9493											
MAGEC1	9947	hgsc.bcm.edu	37	X	140994462	140994462	+	Missense_Mutation	SNP	A	A	C	rs56675069	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chrX:140994462A>C	ENST00000285879.4	+	4	1558	c.1272A>C	c.(1270-1272)ttA>ttC	p.L424F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	424										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTATTTTACAGAGTTCTC	0.463										HNSCC(15;0.026)																																						0								C	PHE/LEU	6,3815		0,4,2,1625,561	101	111	108		1272		0	X	dbSNP_129	108	4,6712		0,0,4,2428,1856	no	missense	MAGEC1	NM_005462.4	22	0,4,6,4053,2417	CC,CA,C,AA,A		0.0596,0.157,0.0949	benign	424/1143	140994462	10,10527	2192	4288	6480	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1272A>C	X.37:g.140994462A>C	ENSP00000285879:p.Leu424Phe		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	0.306	-0.970781	0.02232	0.00157	5.96E-4	ENSG00000155495	ENST00000285879	T	0.02301	4.35	.	.	.	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	0.999995	B	0.06786	0.001	B	0.01281	0.0	T	0.46091	-0.9216	8	0.36615	T	0.2	.	4.7536	0.13073	0.3553:0.6447:0.0:0.0	rs56675069	424	O60732	MAGC1_HUMAN	F	424	ENSP00000285879:L424F	ENSP00000285879:L424F	L	+	3	2	MAGEC1	140822128	0.003000	0.15002	0.005000	0.12908	0.005000	0.04900	-0.028000	0.12350	-2.064000	0.00888	-2.222000	0.00295	TTA		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		C	140994462	A	C	140994462	3	2	160	1	0	0	0	0	1	0	0	0	9182	388	14	5	1278	5	MAGEC1	23	140994462	Missense_Mutation	SNP	A	TCGA-B0-4843-01A-01D-1361-10	26637344	140994462	14276098	76	9494											
ENO1	2023	hgsc.bcm.edu	37	1	8925490	8925490	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:8925490A>G	ENST00000234590.4	-	8	838	c.719T>C	c.(718-720)gTg>gCg	p.V240A		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	240					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCGATGACCACCTTATCAGT	0.537																																					Esophageal Squamous(21;302 608 19946 22210 33560)											0													93	86	88					1																	8925490		2203	4300	6503	SO:0001583	missense	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.719T>C	1.37:g.8925490A>G	ENSP00000234590:p.Val240Ala		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	CCDS97.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866022	0.91511	.	.	ENSG00000074800	ENST00000234590	T	0.59638	0.25	5.8	5.8	0.92144	Enolase, C-terminal (1);	0.175999	0.49916	D	0.000129	T	0.80048	0.4552	M	0.89030	3	0.39721	D	0.971472	P;P;P;P	0.43701	0.688;0.815;0.638;0.815	D;D;P;D	0.65233	0.933;0.911;0.89;0.911	D	0.84095	0.0392	10	0.87932	D	0	-58.5505	15.3296	0.74196	1.0:0.0:0.0:0.0	.	144;78;147;240	E2DRY6;Q9BT62;P06733-2;P06733	.;.;.;ENOA_HUMAN	A	240	ENSP00000234590:V240A	ENSP00000234590:V240A	V	-	2	0	ENO1	8848077	1.000000	0.71417	0.980000	0.43619	0.771000	0.43674	9.253000	0.95501	2.226000	0.72624	0.459000	0.35465	GTG		0.537	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		G	8925490	A	G	8925490	3	3	161	1	0	0	0	0	1	0	0	0	5123	159	6	3	605	3	ENO1	1	8925490	Missense_Mutation	SNP	A	TCGA-B0-4844-01A-01D-1361-10		8925490	240325131	1	9495											
ALDH4A1	8659	hgsc.bcm.edu	37	1	19212058	19212058	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:19212058A>G	ENST00000375341.3	-	5	619	c.362T>C	c.(361-363)aTt>aCt	p.I121T	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.I61T|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.I121T|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.I121T|ALDH4A1_ENST00000454547.1_5'UTR|MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	121					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGTCTGCAATAGGCTTCAG	0.622																																																0													42	38	40					1																	19212058		2203	4300	6503	SO:0001583	missense	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.362T>C	1.37:g.19212058A>G	ENSP00000364490:p.Ile121Thr		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	CCDS188.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155960	0.57259	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.41	5.41	0.78517	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.281446	0.34725	N	0.003722	T	0.68229	0.2978	N	0.19112	0.55	0.34453	D	0.70089	B	0.19935	0.04	B	0.29440	0.102	T	0.74009	-0.3802	10	0.62326	D	0.03	-12.0511	14.2726	0.66159	1.0:0.0:0.0:0.0	.	121	P30038	AL4A1_HUMAN	T	121;121;121;61;105;19;61;105	ENSP00000290597:I121T;ENSP00000364490:I121T;ENSP00000446071:I121T;ENSP00000442988:I61T;ENSP00000393209:I105T	ENSP00000290597:I121T	I	-	2	0	ALDH4A1	19084645	0.951000	0.32395	0.203000	0.23512	0.884000	0.51177	8.600000	0.90860	2.063000	0.61619	0.459000	0.35465	ATT		0.622	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			G	19212058	A	G	19212058	3	3	161	1	0	0	0	0	1	0	0	0	501	101	4	3	1373	3	ALDH4A1	1	19212058	Missense_Mutation	SNP	A	TCGA-B0-4844-01A-01D-1361-10	10286568	19212058	230038563	2	9496											
ZMPSTE24	10269	hgsc.bcm.edu;ucsc.edu	37	1	40735725	40735725	+	Silent	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:40735725C>T	ENST00000372759.3	+	5	718	c.553C>T	c.(553-555)Cta>Tta	p.L185L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	185					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GTCTTCACTTCTACTTTACAT	0.338																																																0													186	196	192					1																	40735725		2203	4300	6503	SO:0001819	synonymous_variant	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog"	606480	"zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)"			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.553C>T	1.37:g.40735725C>T			B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Silent	SNP	ENST00000372759.3	37	CCDS449.1																																																																																				0.338	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			T	40735725	C	T	40735725	2	4	161	1	0	0	0	0	0	0	0	1	17703	912	32	2		2	ZMPSTE24	1	40735725	Silent	SNP	C	TCGA-B0-4844-01A-01D-1361-10	21523667	40735725	208514896	3	9497											
DOCK7	85440	hgsc.bcm.edu;ucsc.edu	37	1	62954615	62954615	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:62954615A>G	ENST00000340370.5	-	41	5407	c.5390T>C	c.(5389-5391)aTt>aCt	p.I1797T	DOCK7_ENST00000251157.5_Missense_Mutation_p.I1819T	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1828	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGATGAACAATTTTGCTGAA	0.338																																																0													132	135	134					1																	62954615		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5390T>C	1.37:g.62954615A>G	ENSP00000340742:p.Ile1797Thr		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.285423	0.80803	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	T;T	0.05996	3.36;3.36	5.93	5.93	0.95920	.	0.047969	0.85682	D	0.000000	T	0.31327	0.0793	H	0.94462	3.54	0.80722	D	1	B;B;B;B;B;B	0.32862	0.087;0.078;0.068;0.043;0.387;0.35	B;B;B;B;B;P	0.48227	0.06;0.301;0.068;0.1;0.415;0.571	T	0.13710	-1.0499	10	0.87932	D	0	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	1828;1819;1797;1788;1788;1819	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	DOCK7_HUMAN;.;.;.;.;.	T	1828;1819;1797;558	ENSP00000251157:I1819T;ENSP00000340742:I1797T	ENSP00000251157:I1819T	I	-	2	0	DOCK7	62727203	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.270000	0.75569	0.482000	0.46254	ATT		0.338	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		G	62954615	A	G	62954615	3	3	161	1	0	0	0	0	1	0	0	0	4694	101	4	3	975	3	DOCK7	1	62954615	Missense_Mutation	SNP	A	TCGA-B0-4844-01A-01D-1361-10	22218890	62954615	186296006	4	9498											
MOV10	4343	hgsc.bcm.edu	37	1	113234325	113234325	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:113234325G>C	ENST00000413052.2	+	6	1265	c.875G>C	c.(874-876)gGg>gCg	p.G292A	MOV10_ENST00000357443.2_Missense_Mutation_p.G292A|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369644.1_Missense_Mutation_p.G236A|MOV10_ENST00000369645.1_Missense_Mutation_p.G292A|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	292					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ATGGCGCTGGGGACATACTAC	0.542																																																0													132	131	132					1																	113234325		2203	4300	6503	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.875G>C	1.37:g.113234325G>C	ENSP00000399797:p.Gly292Ala		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805140	0.50315	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91843	-2.92;-2.92;-2.9;-2.92	5.01	1.95	0.26073	.	0.548640	0.22301	N	0.061861	T	0.68118	0.2966	L	0.29908	0.895	0.80722	D	1	B;P;B	0.35872	0.124;0.525;0.124	B;B;B	0.30401	0.08;0.115;0.054	T	0.67635	-0.5620	10	0.08179	T	0.78	-14.3719	4.7307	0.12962	0.1923:0.1792:0.6285:0.0	.	236;292;292	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	A	292;292;292;236;292;230	ENSP00000399797:G292A;ENSP00000358659:G292A;ENSP00000358658:G236A;ENSP00000350028:G292A	ENSP00000285733:G292A	G	+	2	0	MOV10	113035848	0.940000	0.31905	0.998000	0.56505	0.996000	0.88848	1.239000	0.32719	0.829000	0.34733	0.561000	0.74099	GGG		0.542	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		C	113234325	G	C	113234325	3	2	161	1	0	0	0	0	1	0	0	0	9720	1232	43	4	893	4	MOV10	1	113234325	Missense_Mutation	SNP	G	TCGA-B0-4844-01A-01D-1361-10	50279710	113234325	136016296	5	9499											
IQGAP3	128239	hgsc.bcm.edu;ucsc.edu	37	1	156501004	156501009	+	In_Frame_Del	DEL	TGGAAC	TGGAAC	-			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	TGGAAC	TGGAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:156501004_156501009delTGGAAC	ENST00000361170.2	-	33	4144_4149	c.4134_4139delGTTCCA	c.(4132-4140)cagttccat>cat	p.QF1378del	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1378					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCCCCAGGATGGAACTGTATGATAT	0.597																																																0																																										SO:0001651	inframe_deletion	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4134_4139delGTTCCA	1.37:g.156501004_156501009delTGGAAC	ENSP00000354451:p.Gln1378_Phe1379del		Q5T3H8	In_Frame_Del	DEL	ENST00000361170.2	37	CCDS1144.1																																																																																				0.597	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		-	156501009	TGGAAC	-	156501004	7	5	161	1	0	1	0	1	0	0	0	0	7818	1464	51	0	780	0	IQGAP3	1	156501004	In_Frame_Del	DEL	TGGAAC	TCGA-B0-4844-01A-01D-1361-10	43266679	156501004	92749617	6	9500											
ATF6	22926	hgsc.bcm.edu;ucsc.edu	37	1	161762092	161762092	+	Silent	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:161762092C>T	ENST00000367942.3	+	6	730	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	221					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AACCAATTATCAGTTTACAAC	0.408																																																0													164	168	166					1																	161762092		2203	4300	6503	SO:0001819	synonymous_variant	22926			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.663C>T	1.37:g.161762092C>T			O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	CCDS1235.1																																																																																				0.408	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		T	161762092	C	T	161762092	2	4	161	1	0	0	0	0	0	0	0	1	1084	816	29	2		2	ATF6	1	161762092	Silent	SNP	C	TCGA-B0-4844-01A-01D-1361-10	5261088	161762092	87488529	7	9501											
OLFML2B	25903	hgsc.bcm.edu	37	1	161993198	161993198	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:161993198A>T	ENST00000294794.3	-	1	446	c.23T>A	c.(22-24)gTt>gAt	p.V8D	OLFML2B_ENST00000367940.2_Missense_Mutation_p.V8D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	8					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GAAGTAGAGAACTAGCAGCCG	0.627																																																0													53	54	54					1																	161993198		2203	4300	6503	SO:0001583	missense	25903			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.23T>A	1.37:g.161993198A>T	ENSP00000294794:p.Val8Asp		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746631	0.30955	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.88896	-2.44;-2.44	4.85	-0.177	0.13307	.	.	.	.	.	T	0.66086	0.2754	N	0.24115	0.695	0.29200	N	0.875263	B;B	0.23650	0.089;0.089	B;B	0.18871	0.023;0.023	T	0.50083	-0.8869	8	0.87932	D	0	.	7.1834	0.25786	0.5626:0.0:0.4374:0.0	.	8;8	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	D	8	ENSP00000294794:V8D;ENSP00000356917:V8D	ENSP00000294794:V8D	V	-	2	0	OLFML2B	160259822	0.000000	0.05858	0.008000	0.14137	0.537000	0.34900	0.254000	0.18314	0.041000	0.15688	-0.379000	0.06801	GTT		0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		T	161993198	A	T	161993198	3	4	161	1	0	0	0	0	1	0	0	0	10860	43	2	5	2261	5	OLFML2B	1	161993198	Missense_Mutation	SNP	A	TCGA-B0-4844-01A-01D-1361-10	231106	161993198	87257423	8	9502											
RPS27A	6233	hgsc.bcm.edu;ucsc.edu	37	2	55462091	55462091	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr2:55462091A>T	ENST00000272317.6	+	5	638	c.314A>T	c.(313-315)tAt>tTt	p.Y105F	RPS27A_ENST00000404735.1_Missense_Mutation_p.Y105F|CLHC1_ENST00000407122.1_5'Flank|CLHC1_ENST00000406076.1_5'Flank|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank|CLHC1_ENST00000494539.1_5'Flank|RPS27A_ENST00000402285.3_Missense_Mutation_p.Y105F	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	105					activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						GTCCTGAAATATTATAAGGTG	0.378																																																0													44	43	44					2																	55462091		2203	4300	6503	SO:0001583	missense	6233			AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"S ribosomal proteins"	10417	protein-coding gene	gene with protein product	"ubiquitin carboxyl extension protein 80"	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.314A>T	2.37:g.55462091A>T	ENSP00000272317:p.Tyr105Phe		P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061631	0.55432	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.01	5.01	0.66863	Ribosomal protein S27a (1);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	L	0.33668	1.02	0.80722	D	1	P	0.39404	0.672	P	0.44732	0.459	T	0.64449	-0.6405	10	0.16896	T	0.51	.	14.7212	0.69308	1.0:0.0:0.0:0.0	.	105	P62979	RS27A_HUMAN	F	105	ENSP00000383981:Y105F;ENSP00000272317:Y105F;ENSP00000408482:Y105F;ENSP00000385659:Y105F	ENSP00000272317:Y105F	Y	+	2	0	RPS27A	55315595	1.000000	0.71417	0.987000	0.45799	0.940000	0.58332	8.969000	0.93411	1.882000	0.54519	0.477000	0.44152	TAT		0.378	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			T	55462091	A	T	55462091	3	4	161	1	0	0	0	0	1	0	0	0	13645	449	16	5	328	5	RPS27A	2	55462091	Missense_Mutation	SNP	A	TCGA-B0-4844-01A-01D-1361-10		55462091	187737282	9	9503											
ZC3H6	376940	hgsc.bcm.edu;ucsc.edu	37	2	113060908	113060908	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr2:113060908T>A	ENST00000409871.1	+	3	717	c.316T>A	c.(316-318)Tat>Aat	p.Y106N	ZC3H6_ENST00000343936.4_Missense_Mutation_p.Y106N	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	106							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTACAGGGATTATGACATTCC	0.328																																																0													58	58	58					2																	113060908		1825	4086	5911	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.316T>A	2.37:g.113060908T>A	ENSP00000386764:p.Tyr106Asn		A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249892	0.39797	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.16743	2.32;2.32	4.63	3.47	0.39725	.	1.093020	0.06859	N	0.798730	T	0.23289	0.0563	M	0.74258	2.255	0.44117	D	0.996892	B	0.33694	0.421	B	0.30495	0.116	T	0.02617	-1.1133	10	0.39692	T	0.17	-5.8792	10.1662	0.42882	0.0:0.0796:0.0:0.9204	.	106	P61129	ZC3H6_HUMAN	N	106;106;83	ENSP00000386764:Y106N;ENSP00000340298:Y106N	ENSP00000340298:Y106N	Y	+	1	0	ZC3H6	112777379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.193000	0.58385	0.729000	0.32403	0.528000	0.53228	TAT		0.328	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		A	113060908	T	A	113060908	3	1	161	1	0	0	0	0	1	0	0	0	17576	1754	61	5	326	5	ZC3H6	2	113060908	Missense_Mutation	SNP	T	TCGA-B0-4844-01A-01D-1361-10	57598817	113060908	130138465	10	9504											
TTN	7273	hgsc.bcm.edu	37	2	179614187	179614187	+	Intron	SNP	T	T	C			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr2:179614187T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.T4314A			Q8WZ42	TITIN_HUMAN	titin						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)			TGCTCAATAGTCTCAAGGCTT	0.388																																																0													72	75	74					2																	179614187		2203	4298	6501	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3663A>G	2.37:g.179614187T>C			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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.34	1.609116	0.28623	.	.	ENSG00000155657	ENST00000360870	T	0.58210	0.35	6.17	5.03	0.67393	.	.	.	.	.	T	0.31575	0.0801	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.14980	-1.0453	9	0.20519	T	0.43	.	8.1697	0.31247	0.0:0.1477:0.0:0.8523	.	4314	Q8WZ42-6	.	A	4314	ENSP00000354117:T4314A	ENSP00000354117:T4314A	T	-	1	0	TTN	179322432	0.921000	0.31238	0.940000	0.37924	0.190000	0.23558	1.205000	0.32308	2.371000	0.80710	0.533000	0.62120	ACT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179614187	T	C	179614187	1	2	161	0	1	0	0	0	0	0	0	0	16740	1667	58	3		3	TTN	2	179614187	Intron	SNP	T	TCGA-B0-4844-01A-01D-1361-10	66553279	179614187	63585186	11	9505											
FRZB	2487	hgsc.bcm.edu;ucsc.edu	37	2	183730988	183730988	+	Missense_Mutation	SNP	A	A	T	rs139461108		TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr2:183730988A>T	ENST00000295113.4	-	1	902	c.293T>A	c.(292-294)aTt>aAt	p.I98N		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	98	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CTGGAAGTCAATGGTGCAGAT	0.622																																																0													76	70	72					2																	183730988		2203	4300	6503	SO:0001583	missense	2487			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.293T>A	2.37:g.183730988A>T	ENSP00000295113:p.Ile98Asn		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423094	0.83559	.	.	ENSG00000162998	ENST00000295113	T	0.75050	-0.9	4.78	4.78	0.61160	Frizzled domain (5);	0.131843	0.53938	D	0.000044	T	0.77883	0.4197	L	0.41710	1.295	0.80722	D	1	D	0.61697	0.99	P	0.58620	0.842	T	0.80027	-0.1554	10	0.59425	D	0.04	.	14.463	0.67465	1.0:0.0:0.0:0.0	.	98	Q92765	SFRP3_HUMAN	N	98	ENSP00000295113:I98N	ENSP00000295113:I98N	I	-	2	0	FRZB	183439233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.031000	0.93731	1.992000	0.58205	0.379000	0.24179	ATT		0.622	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		T	183730988	A	T	183730988	3	4	161	1	0	0	0	0	1	0	0	0	6067	101	4	5	708	5	FRZB	2	183730988	Missense_Mutation	SNP	A	TCGA-B0-4844-01A-01D-1361-10	4116801	183730988	59468385	12	9506											
PARP9	83666	hgsc.bcm.edu	37	3	122277192	122277192	+	Silent	SNP	G	G	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr3:122277192G>T	ENST00000360356.2	-	3	365	c.138C>A	c.(136-138)ctC>ctA	p.L46L	PARP9_ENST00000462315.1_Intron|PARP9_ENST00000477522.2_Intron|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	46					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ACTTGTAGGGGAGACATTCTT	0.502																																																0													126	110	116					3																	122277192		2203	4300	6503	SO:0001819	synonymous_variant	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.138C>A	3.37:g.122277192G>T			A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	CCDS3014.1																																																																																				0.502	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		T	122277192	G	T	122277192	2	4	161	1	0	0	0	0	0	0	0	1	11468	1161	41	4		4	PARP9	3	122277192	Silent	SNP	G	TCGA-B0-4844-01A-01D-1361-10		122277192	75745238	13	9507											
HLTF	6596	hgsc.bcm.edu	37	3	148766680	148766680	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr3:148766680A>T	ENST00000310053.5	-	16	1919	c.1726T>A	c.(1726-1728)Tta>Ata	p.L576I	HLTF_ENST00000465259.1_Missense_Mutation_p.L575I|HLTF_ENST00000392912.2_Missense_Mutation_p.L576I|HLTF_ENST00000494055.1_Missense_Mutation_p.L576I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	576	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTGATTCTAAGTCAAGTACA	0.343																																																0													171	157	162					3																	148766680		2203	4299	6502	SO:0001583	missense	6596			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1726T>A	3.37:g.148766680A>T	ENSP00000308944:p.Leu576Ile		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334197	0.81801	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.83	3.16	0.36331	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.94771	0.8312	L	0.49256	1.55	0.47511	D	0.999442	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.92015	0.5621	9	0.31617	T	0.26	-2.6376	6.6017	0.22705	0.6837:0.0:0.3163:0.0	.	576;576;576	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	I	575;576;576;576;40	ENSP00000420745:L575I;ENSP00000308944:L576I;ENSP00000376644:L576I;ENSP00000420429:L576I;ENSP00000420106:L40I	ENSP00000308944:L576I	L	-	1	2	HLTF	150249370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.955000	0.40372	1.038000	0.40049	0.528000	0.53228	TTA		0.343	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			T	148766680	A	T	148766680	3	4	161	1	0	0	0	0	1	0	0	0	7217	69	3	5	1343	5	HLTF	3	148766680	Missense_Mutation	SNP	A	TCGA-B0-4844-01A-01D-1361-10	26489488	148766680	49255750	14	9508											
WDR49	151790	hgsc.bcm.edu	37	3	167250750	167250750	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr3:167250750T>G	ENST00000308378.3	-	8	1219	c.914A>C	c.(913-915)gAa>gCa	p.E305A	WDR49_ENST00000453925.2_Missense_Mutation_p.E369A|WDR49_ENST00000476376.1_Missense_Mutation_p.E130A|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	305								p.E305A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TAGAACAATTTCTCCATCATA	0.373																																																1	Substitution - Missense(1)	ovary(1)											110	95	100					3																	167250750		2203	4299	6502	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.914A>C	3.37:g.167250750T>G	ENSP00000311343:p.Glu305Ala		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.75|19.75	3.885506|3.885506	0.72410|0.72410	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.59772|.	0.24;0.24;0.24|.	5.82|5.82	5.82|5.82	0.92795|0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);|.	0.103264|.	0.64402|.	D|.	0.000004|.	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.41961|0.41961	1.31|1.31	0.31488|0.31488	N|N	0.666302|0.666302	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.76071|.	0.987;0.987|.	T|T	0.56583|0.56583	-0.7955|-0.7955	10|5	0.36615|.	T|.	0.2|.	.|.	15.1777|15.1777	0.72927|0.72927	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	369;305|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	A|Q	305;130;369|381	ENSP00000311343:E305A;ENSP00000420508:E130A;ENSP00000410863:E369A|.	ENSP00000311343:E305A|.	E|K	-|-	2|1	0|0	WDR49|WDR49	168733444|168733444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	5.036000|5.036000	0.64164|0.64164	2.228000|2.228000	0.72767|0.72767	0.460000|0.460000	0.39030|0.39030	GAA|AAA		0.373	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		G	167250750	T	G	167250750	3	3	161	1	0	0	0	0	1	0	0	0	17307	1783	62	5	1211	5	WDR49	3	167250750	Missense_Mutation	SNP	T	TCGA-B0-4844-01A-01D-1361-10	18484070	167250750	30771680	15	9509											
GRIA2	2891	hgsc.bcm.edu	37	4	158257863	158257863	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr4:158257863G>A	ENST00000264426.9	+	11	2087	c.1808G>A	c.(1807-1809)gGt>gAt	p.G603D	GRIA2_ENST00000296526.7_Missense_Mutation_p.G603D|GRIA2_ENST00000507898.1_Missense_Mutation_p.G556D|GRIA2_ENST00000449365.1_Missense_Mutation_p.G556D|GRIA2_ENST00000393815.2_Missense_Mutation_p.G556D	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	603					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTTTCCTTGGGTGCCTTTATG	0.413																																																0													135	136	136					4																	158257863		2203	4300	6503	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1808G>A	4.37:g.158257863G>A	ENSP00000264426:p.Gly603Asp		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546794	0.86022	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.66	5.66	0.87406	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	H	0.95043	3.615	0.80722	D	1	D;D;D	0.89917	0.985;1.0;1.0	P;D;D	0.97110	0.846;1.0;0.999	D	0.88182	0.2871	10	0.87932	D	0	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	603;603;556	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	D	556;556;603;603;556	ENSP00000426845:G556D;ENSP00000377403:G556D;ENSP00000296526:G603D;ENSP00000264426:G603D;ENSP00000389837:G556D	ENSP00000264426:G603D	G	+	2	0	GRIA2	158477313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.826000	0.97356	0.655000	0.94253	GGT		0.413	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			A	158257863	G	A	158257863	3	1	161	1	0	0	0	0	1	0	0	0	6770	1261	44	2	1850	2	GRIA2	4	158257863	Missense_Mutation	SNP	G	TCGA-B0-4844-01A-01D-1361-10		158257863	32896413	16	9510											
TMEM161B	153396	hgsc.bcm.edu	37	5	87516401	87516401	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr5:87516401A>G	ENST00000296595.6	-	5	549	c.425T>C	c.(424-426)cTa>cCa	p.L142P	TMEM161B_ENST00000509387.1_Missense_Mutation_p.L15P|TMEM161B_ENST00000512429.1_Missense_Mutation_p.L131P|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000514135.1_Missense_Mutation_p.L142P|TMEM161B_ENST00000511218.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	142						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CAAAACAAGTAGGCACCAGAC	0.333																																																0													63	70	68					5																	87516401		2203	4300	6503	SO:0001583	missense	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.425T>C	5.37:g.87516401A>G	ENSP00000296595:p.Leu142Pro		Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418039	0.83449	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.74	5.74	0.90152	.	0.137235	0.50627	D	0.000106	T	0.72819	0.3508	L	0.55213	1.73	0.80722	D	1	D	0.56287	0.975	P	0.59424	0.857	T	0.74743	-0.3562	9	0.59425	D	0.04	-6.7827	16.0294	0.80567	1.0:0.0:0.0:0.0	.	142	Q8NDZ6	T161B_HUMAN	P	142;142;131;142;15	.	ENSP00000296595:L142P	L	-	2	0	TMEM161B	87552157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.190000	0.69967	0.477000	0.44152	CTA		0.333	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		G	87516401	A	G	87516401	3	3	161	1	0	0	0	0	1	0	0	0	16082	420	15	3	1070	3	TMEM161B	5	87516401	Missense_Mutation	SNP	A	TCGA-B0-4844-01A-01D-1361-10		87516401	93398859	17	9511											
SEPT8	23176	hgsc.bcm.edu;ucsc.edu	37	5	132096903	132096903	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr5:132096903C>A	ENST00000378719.2	-	8	1254	c.1017G>T	c.(1015-1017)agG>agT	p.R339S	SEPT8_ENST00000378699.2_Missense_Mutation_p.R279S|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000448933.1_Missense_Mutation_p.R279S|SEPT8_ENST00000296873.7_Missense_Mutation_p.R339S|SEPT8_ENST00000378721.4_Missense_Mutation_p.R337S|SEPT8_ENST00000458488.2_Missense_Mutation_p.R339S|SEPT8_ENST00000378701.1_Missense_Mutation_p.R337S|SEPT8_ENST00000378706.1_Missense_Mutation_p.R339S	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	339					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCCTCCTTCCTCTGCAGCT	0.527																																																0													210	203	205					5																	132096903		2042	4203	6245	SO:0001583	missense	23176			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.1017G>T	5.37:g.132096903C>A	ENSP00000367991:p.Arg339Ser		A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879648	0.51801	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.38	5.38	0.77491	.	0.110341	0.56097	D	0.000033	T	0.75488	0.3856	M	0.64676	1.99	0.50632	D	0.999889	B;B;B;B	0.34181	0.236;0.44;0.121;0.44	B;B;B;B	0.24701	0.05;0.05;0.055;0.05	T	0.77286	-0.2644	10	0.59425	D	0.04	.	12.4819	0.55847	0.0:0.9239:0.0:0.0761	.	337;337;339;339	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	S	339;337;339;279;339;279;337;339	ENSP00000367991:R339S;ENSP00000367993:R337S;ENSP00000296873:R339S;ENSP00000399840:R279S;ENSP00000367978:R339S;ENSP00000367971:R279S;ENSP00000367973:R337S;ENSP00000394766:R339S	ENSP00000296873:R339S	R	-	3	2	SEPT8	132124802	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.956000	0.29202	2.528000	0.85240	0.561000	0.74099	AGG		0.527	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		A	132096903	C	A	132096903	3	1	161	1	0	0	0	0	1	0	0	0	14076	854	30	4	501	4	SEPT8	5	132096903	Missense_Mutation	SNP	C	TCGA-B0-4844-01A-01D-1361-10	44580502	132096903	48818357	18	9512											
SYNE1	23345	hgsc.bcm.edu;ucsc.edu	37	6	152779924	152779924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr6:152779924G>A	ENST00000367255.5	-	22	3137	c.2536C>T	c.(2536-2538)Caa>Taa	p.Q846*	SYNE1_ENST00000367248.3_Nonsense_Mutation_p.Q836*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q853*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q846*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.Q846*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q853*|SYNE1_ENST00000495090.2_Nonsense_Mutation_p.Q413*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q853*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.Q846*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	846					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCACTCGATTGTGCCTCACGC	0.398										HNSCC(10;0.0054)																																						0													123	115	118					6																	152779924		2203	4300	6503	SO:0001587	stop_gained	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2536C>T	6.37:g.152779924G>A	ENSP00000356224:p.Gln846*		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	44	11.115092	0.99518	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	.	.	.	5.34	5.34	0.76211	.	0.000000	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	19.408	0.94656	0.0:0.0:1.0:0.0	.	.	.	.	X	846;853;846;853;853;846;836;846;413	.	ENSP00000265368:Q846X	Q	-	1	0	SYNE1	152821617	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.058000	0.89460	2.643000	0.89663	0.650000	0.86243	CAA		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152779924	G	A	152779924	4	1	161	1	0	0	0	0	0	1	0	0	15450	1386	48	2	24430	2	SYNE1	6	152779924	Nonsense_Mutation	SNP	G	TCGA-B0-4844-01A-01D-1361-10		152779924	18335143	19	9513											
TTLL2	83887	hgsc.bcm.edu	37	6	167753863	167753863	+	Silent	SNP	T	T	C	rs146650729	byFrequency	TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr6:167753863T>C	ENST00000239587.5	+	3	563	c.475T>C	c.(475-477)Ttg>Ctg	p.L159L		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	159	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GAAAGACTGTTTGGCCAAACA	0.507																																																0													151	150	150					6																	167753863		2203	4300	6503	SO:0001819	synonymous_variant	83887			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.475T>C	6.37:g.167753863T>C			B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	CCDS5301.1																																																																																				0.507	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		C	167753863	T	C	167753863	2	2	161	1	0	0	0	0	0	0	0	1	16732	1838	64	3		3	TTLL2	6	167753863	Silent	SNP	T	TCGA-B0-4844-01A-01D-1361-10	14973939	167753863	3361204	20	9514											
DBNL	28988	hgsc.bcm.edu	37	7	44099692	44099692	+	Missense_Mutation	SNP	C	C	A	rs151003280		TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr7:44099692C>A	ENST00000448521.1	+	12	1191	c.1093C>A	c.(1093-1095)Cag>Aag	p.Q365K	DBNL_ENST00000452943.1_Missense_Mutation_p.Q341K|DBNL_ENST00000440166.1_Missense_Mutation_p.Q262K|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Missense_Mutation_p.Q374K|DBNL_ENST00000494774.1_Missense_Mutation_p.Q366K|DBNL_ENST00000456905.1_Missense_Mutation_p.Q317K|DBNL_ENST00000490734.2_Missense_Mutation_p.Q271K	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	365					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)	p.Q366*(1)		breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CCACCACATTCAGGGCCAGGG	0.617																																					NSCLC(68;573 1327 18604 34760 37992)											1	Substitution - Nonsense(1)	skin(1)											58	49	52					7																	44099692		2203	4300	6503	SO:0001583	missense	28988			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.1093C>A	7.37:g.44099692C>A	ENSP00000411701:p.Gln365Lys		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	CCDS34623.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	0.711|0.711|0.711	-0.787050|-0.787050|-0.787050	0.02907|0.02907|0.02907	.|.|.	.|.|.	ENSG00000136279|ENSG00000136279|ENSG00000136279	ENST00000452661|ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475|ENST00000432854	.|T;T;T;T;T;T;T|.	.|0.30182|.	.|1.94;2.26;2.27;2.27;1.54;1.95;2.27|.	4.17|4.17|4.17	2.23|2.23|2.23	0.28157|0.28157|0.28157	.|Src homology-3 domain (1);|.	.|1.497680|.	.|0.03947|.	.|N|.	.|0.287853|.	T|T|.	0.32010|0.32010|.	0.0815|0.0815|.	N|N|N	0.22421|0.22421|0.22421	0.69|0.69|0.69	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B;B;B;B;B;B;B|.	.|0.34399|.	.|0.255;0.179;0.011;0.278;0.054;0.278;0.452;0.003;0.452|.	.|B;B;B;B;B;B;B;B;B|.	.|0.33454|.	.|0.104;0.057;0.006;0.057;0.091;0.057;0.164;0.017;0.164|.	T|T|.	0.20505|0.20505|.	-1.0273|-1.0273|.	5|10|.	.|0.29301|.	.|T|.	.|0.29|.	-13.7865|-13.7865|-13.7865	11.8902|11.8902|11.8902	0.52624|0.52624|0.52624	0.0:0.4733:0.5267:0.0|0.0:0.4733:0.5267:0.0|0.0:0.4733:0.5267:0.0	.|.|.	.|262;314;295;317;271;341;374;365;366|.	.|B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2|.	.|.;.;.;.;.;.;.;DBNL_HUMAN;.|.	L|K|X	72|365;317;262;341;374;366;271;295|293	.|ENSP00000411701:Q365K;ENSP00000416421:Q317K;ENSP00000415173:Q262K;ENSP00000405343:Q341K;ENSP00000417653:Q374K;ENSP00000419992:Q366K;ENSP00000417749:Q271K|.	.|ENSP00000415173:Q262K|.	F|Q|S	+|+|+	3|1|2	2|0|0	DBNL|DBNL|DBNL	44066217|44066217|44066217	.|.|.	.|.|.	0.164000|0.164000|0.164000	0.22755|0.22755|0.22755	0.485000|0.485000|0.485000	0.33311|0.33311|0.33311	.|.|.	.|.|.	0.180000|0.180000|0.180000	0.19960|0.19960|0.19960	0.558000|0.558000|0.558000	0.71614|0.71614|0.71614	TTC|CAG|TCA		0.617	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		A	44099692	C	A	44099692	3	1	161	1	0	0	0	0	1	0	0	0	4257	827	29	4	1166	4	DBNL	7	44099692	Missense_Mutation	SNP	C	TCGA-B0-4844-01A-01D-1361-10		44099692	115038971	21	9515											
ASB15	142685	hgsc.bcm.edu;ucsc.edu	37	7	123257653	123257653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr7:123257653G>T	ENST00000451558.1	+	9	834	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	ASB15_ENST00000451215.1_Nonsense_Mutation_p.E105*|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000275699.3_Nonsense_Mutation_p.E105*|ASB15_ENST00000434204.1_Nonsense_Mutation_p.E105*|RP11-390E23.3_ENST00000429396.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000540573.1_Nonsense_Mutation_p.E105*|RP11-390E23.3_ENST00000418409.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	105					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GACACTCTGGGAATTCAAGAC	0.383																																																0													134	133	133					7																	123257653		2203	4300	6503	SO:0001587	stop_gained	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.313G>T	7.37:g.123257653G>T	ENSP00000397655:p.Glu105*		Q3ZCP3|Q3ZCP5|Q68D37	Nonsense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	36	5.610376	0.96637	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	.	.	.	5.69	5.69	0.88448	.	0.145206	0.46758	D	0.000267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.6735	19.4196	0.94715	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000275699:E105X	E	+	1	0	ASB15	123044889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.049000	0.71053	2.695000	0.91970	0.650000	0.86243	GAA		0.383	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			T	123257653	G	T	123257653	4	4	161	1	0	0	0	0	0	1	0	0	1019	1175	41	4	327	4	ASB15	7	123257653	Nonsense_Mutation	SNP	G	TCGA-B0-4844-01A-01D-1361-10	79157961	123257653	35881010	22	9516											
TACC1	6867	hgsc.bcm.edu;ucsc.edu	37	8	38684806	38684806	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr8:38684806G>A	ENST00000317827.4	+	5	1952	c.1573G>A	c.(1573-1575)Ggt>Agt	p.G525S	TACC1_ENST00000276520.8_Missense_Mutation_p.G115S|TACC1_ENST00000520973.1_Splice_Site_p.G330S|TACC1_ENST00000348567.4_Missense_Mutation_p.G87S|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000443286.2_Splice_Site_p.G541S|TACC1_ENST00000518415.1_Splice_Site_p.G480S|TACC1_ENST00000379931.3_Missense_Mutation_p.G537S|TACC1_ENST00000330691.6_Missense_Mutation_p.G99S|TACC1_ENST00000520340.1_Splice_Site_p.G489S|TACC1_ENST00000520611.1_De_novo_Start_OutOfFrame|TACC1_ENST00000520615.1_Missense_Mutation_p.G330S|TACC1_ENST00000519416.1_Missense_Mutation_p.G329S	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	525					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CGAGGTGAAAGGTGAGCCAGA	0.463																																																0													234	179	198					8																	38684806		2203	4300	6503	SO:0001583	missense	6867			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1573G>A	8.37:g.38684806G>A	ENSP00000321703:p.Gly525Ser		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231508	0.79688	.	.	ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000521642;ENST00000521050;ENST00000522904;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973	T;T;T;T;T;T;T;T;T;T;T	0.47177	2.86;2.9;2.89;2.88;2.43;0.88;0.85;3.05;3.01;0.87;2.76	5.53	5.53	0.82687	.	0.061160	0.64402	D	0.000004	T	0.60971	0.2310	L	0.49350	1.555	0.36582	D	0.873592	D;D;D;D;D;P;B;P;B;P;D	0.89917	1.0;0.996;0.996;1.0;0.999;0.787;0.105;0.753;0.211;0.787;0.991	D;P;P;D;D;B;B;B;B;B;P	0.91635	0.999;0.873;0.873;0.998;0.964;0.322;0.062;0.182;0.04;0.241;0.861	T	0.55724	-0.8096	10	0.08837	T	0.75	-10.5013	18.0095	0.89219	0.0:0.0:1.0:0.0	.	330;330;330;541;537;525;116;115;99;329;480	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-5;O75410-6;O75410-4;E7ET87;O75410-7	.;.;.;.;.;TACC1_HUMAN;.;.;.;.;.	S	329;330;330;541;480;87;99;497;99;87;525;537;115;330	ENSP00000428687:G329S;ENSP00000428450:G330S;ENSP00000393647:G541S;ENSP00000428706:G480S;ENSP00000430355:G497S;ENSP00000332794:G99S;ENSP00000327818:G87S;ENSP00000321703:G525S;ENSP00000369263:G537S;ENSP00000276520:G115S;ENSP00000430959:G330S	ENSP00000276520:G115S	G	+	1	0	TACC1	38803963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.769000	0.85360	2.749000	0.94314	0.655000	0.94253	GGT;GGT;GGT;GGC;GGC;GGT;GGT;GGC;GGT;GGT;GGT;GGT;GGT;GGC		0.463	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		A	38684806	G	A	38684806	3	1	161	1	0	0	0	0	1	0	0	0	15506	1000	35	2	1591	2	TACC1	8	38684806	Missense_Mutation	SNP	G	TCGA-B0-4844-01A-01D-1361-10		38684806	107679216	23	9517											
RCL1	10171	hgsc.bcm.edu;ucsc.edu	37	9	4849485	4849485	+	Silent	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr9:4849485A>G	ENST00000381750.4	+	8	1129	c.906A>G	c.(904-906)ctA>ctG	p.L302L	MIR101-2_ENST00000362195.2_RNA|RCL1_ENST00000381730.1_Silent_p.L116L|RCL1_ENST00000381728.1_Silent_p.L116L|RP11-125K10.5_ENST00000443970.1_RNA|RCL1_ENST00000448872.2_Silent_p.L116L	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	302					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		GCCTGGCGCTACTACTCATGA	0.453																																																0													148	123	132					9																	4849485		2203	4300	6503	SO:0001819	synonymous_variant	10171			AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.906A>G	9.37:g.4849485A>G			D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Silent	SNP	ENST00000381750.4	37	CCDS6456.1																																																																																				0.453	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		G	4849485	A	G	4849485	2	3	161	1	0	0	0	0	0	0	0	1	13184	378	14	3		3	RCL1	9	4849485	Silent	SNP	A	TCGA-B0-4844-01A-01D-1361-10		4849485	136363946	24	9518											
NOTCH1	4851	hgsc.bcm.edu	37	9	139409100	139409100	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr9:139409100C>A	ENST00000277541.6	-	13	2144	c.2069G>T	c.(2068-2070)gGg>gTg	p.G690V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	690	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGGTGCCCCCGTTGTGGCA	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													33	44	40					9																	139409100		2136	4243	6379	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2069G>T	9.37:g.139409100C>A	ENSP00000277541:p.Gly690Val		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522911	0.64747	.	.	ENSG00000148400	ENST00000277541	D	0.96587	-4.06	5.45	5.45	0.79879	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98985	1.0806	10	0.72032	D	0.01	.	18.2788	0.90092	0.0:1.0:0.0:0.0	.	690	P46531	NOTC1_HUMAN	V	690	ENSP00000277541:G690V	ENSP00000277541:G690V	G	-	2	0	NOTCH1	138528921	1.000000	0.71417	0.844000	0.33320	0.003000	0.03518	7.633000	0.83260	2.565000	0.86533	0.655000	0.94253	GGG		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		A	139409100	C	A	139409100	3	1	161	1	0	0	0	0	1	0	0	0	10549	623	22	4	5686	4	NOTCH1	9	139409100	Missense_Mutation	SNP	C	TCGA-B0-4844-01A-01D-1361-10	134559615	139409100	1804331	25	9519											
TBC1D12	23232	hgsc.bcm.edu	37	10	96281773	96281773	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr10:96281773T>A	ENST00000225235.4	+	10	1933	c.1823T>A	c.(1822-1824)tTt>tAt	p.F608Y	TBC1D12_ENST00000485048.1_Intron	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	608	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GCAGATGCCTTTATCGCATTT	0.413																																																0													154	140	144					10																	96281773		1906	4137	6043	SO:0001583	missense	23232			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1823T>A	10.37:g.96281773T>A	ENSP00000225235:p.Phe608Tyr		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769651	0.90020	.	.	ENSG00000108239	ENST00000225235	T	0.13778	2.56	5.07	5.07	0.68467	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50693	-0.8798	10	0.87932	D	0	-13.3492	13.1049	0.59241	0.0:0.0:0.0:1.0	.	608	O60347	TBC12_HUMAN	Y	608	ENSP00000225235:F608Y	ENSP00000225235:F608Y	F	+	2	0	TBC1D12	96271763	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.809000	0.86057	2.254000	0.74563	0.460000	0.39030	TTT		0.413	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			A	96281773	T	A	96281773	3	1	161	1	0	0	0	0	1	0	0	0	15606	1841	64	5	1861	5	TBC1D12	10	96281773	Missense_Mutation	SNP	T	TCGA-B0-4844-01A-01D-1361-10		96281773	39252974	26	9520											
DPYSL4	10570	hgsc.bcm.edu;ucsc.edu	37	10	134013907	134013907	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr10:134013907G>A	ENST00000338492.4	+	9	1023	c.859G>A	c.(859-861)Ggt>Agt	p.G287S	DPYSL4_ENST00000368627.1_Missense_Mutation_p.G187S|DPYSL4_ENST00000368629.1_Missense_Mutation_p.G187S	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	287					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.G287S(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGGCACCGACGGTTCACACTA	0.667																																																1	Substitution - Missense(1)	lung(1)											122	110	114					10																	134013907		2203	4300	6503	SO:0001583	missense	10570			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.859G>A	10.37:g.134013907G>A	ENSP00000339850:p.Gly287Ser		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843898	0.71488	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.89485	-2.52;-2.52;-2.52	4.58	4.58	0.56647	Amidohydrolase 1 (1);	0.112094	0.64402	D	0.000013	D	0.93953	0.8064	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94482	0.7694	10	0.72032	D	0.01	-26.0084	18.0064	0.89211	0.0:0.0:1.0:0.0	.	287	O14531	DPYL4_HUMAN	S	287;187;187	ENSP00000339850:G287S;ENSP00000357618:G187S;ENSP00000357616:G187S	ENSP00000339850:G287S	G	+	1	0	DPYSL4	133863897	1.000000	0.71417	0.573000	0.28510	0.043000	0.13939	7.263000	0.78421	2.558000	0.86282	0.555000	0.69702	GGT		0.667	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			A	134013907	G	A	134013907	3	1	161	1	0	0	0	0	1	0	0	0	4751	1116	39	1	893	1	DPYSL4	10	134013907	Missense_Mutation	SNP	G	TCGA-B0-4844-01A-01D-1361-10	37732134	134013907	1520840	27	9521											
OR10W1	81341	hgsc.bcm.edu;ucsc.edu	37	11	58035202	58035202	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr11:58035202T>G	ENST00000395079.2	-	1	530	c.129A>C	c.(127-129)gaA>gaC	p.E43D		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				ATAGACAGGTTTCTGTGTGAA	0.493																																																0													102	86	92					11																	58035202		2201	4295	6496	SO:0001583	missense	81341			AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"GPCR / Class A : Olfactory receptors"	15139	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily W, member 1 pseudogene"	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.129A>C	11.37:g.58035202T>G	ENSP00000378516:p.Glu43Asp		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	T	3.214	-0.160993	0.06502	.	.	ENSG00000172772	ENST00000395079	T	0.00588	6.37	5.76	-1.01	0.10169	GPCR, rhodopsin-like superfamily (1);	0.122706	0.37012	N	0.002285	T	0.00144	0.0004	N	0.00465	-1.465	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.45101	-0.9284	10	0.02654	T	1	.	0.6511	0.00826	0.4015:0.1386:0.2127:0.2473	.	43	Q8NGF6	O10W1_HUMAN	D	43	ENSP00000378516:E43D	ENSP00000378516:E43D	E	-	3	2	OR10W1	57791778	0.000000	0.05858	0.010000	0.14722	0.222000	0.24845	-1.538000	0.02204	0.093000	0.17368	0.533000	0.62120	GAA		0.493	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		G	58035202	T	G	58035202	3	3	161	1	0	0	0	0	1	0	0	0	10923	1838	64	5	792	5	OR10W1	11	58035202	Missense_Mutation	SNP	T	TCGA-B0-4844-01A-01D-1361-10		58035202	76971314	28	9522											
CTSW	1521	hgsc.bcm.edu	37	11	65650835	65650835	+	Silent	SNP	T	T	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr11:65650835T>A	ENST00000307886.3	+	9	1006	c.960T>A	c.(958-960)ccT>ccA	p.P320P	FIBP_ENST00000426652.2_5'Flank|CTSW_ENST00000528419.1_Silent_p.P320P	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	320					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		AGCCTCAGCCTCCACACCCCA	0.587																																																0													96	94	94					11																	65650835		2201	4296	6497	SO:0001819	synonymous_variant	1521			AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"Cathepsins"	2546	protein-coding gene	gene with protein product		602364	"cathepsin W (lymphopain)"			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.960T>A	11.37:g.65650835T>A			Q86VT4	Silent	SNP	ENST00000307886.3	37	CCDS8117.1																																																																																				0.587	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		A	65650835	T	A	65650835	2	1	161	1	0	0	0	0	0	0	0	1	4044	1538	54	5		5	CTSW	11	65650835	Silent	SNP	T	TCGA-B0-4844-01A-01D-1361-10	7615633	65650835	69355681	29	9523											
RBM14	10432	hgsc.bcm.edu	37	11	66392256	66392256	+	Silent	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr11:66392256C>T	ENST00000310137.4	+	2	1048	c.909C>T	c.(907-909)ggC>ggT	p.G303G	RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	303	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTTCACTCGGCCCATATGGTG	0.627																																																0													51	49	50					11																	66392256		2200	4295	6495	SO:0001819	synonymous_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.909C>T	11.37:g.66392256C>T			B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	ENST00000310137.4	37	CCDS8147.1																																																																																				0.627	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		T	66392256	C	T	66392256	2	4	161	1	0	0	0	0	0	0	0	1	13121	726	26	2		2	RBM14	11	66392256	Silent	SNP	C	TCGA-B0-4844-01A-01D-1361-10	741421	66392256	68614260	30	9524											
CCDC83	220047	hgsc.bcm.edu;ucsc.edu	37	11	85630410	85630410	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr11:85630410C>T	ENST00000342404.3	+	11	1315	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	CCDC83_ENST00000280245.4_Missense_Mutation_p.P398S|RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000376067.1_Missense_Mutation_p.P267S			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	367										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAACTTGGGCCCCCTGGGAGT	0.408																																																0													130	126	128					11																	85630410		2203	4299	6502	SO:0001583	missense	220047			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.1099C>T	11.37:g.85630410C>T	ENSP00000344512:p.Pro367Ser		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37		.	.	.	.	.	.	.	.	.	.	C	19.37	3.815528	0.70912	.	.	ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404	T;T;T	0.41065	1.01;1.01;1.01	5.62	4.7	0.59300	.	0.083447	0.52532	D	0.000066	T	0.54271	0.1848	M	0.72118	2.19	0.38993	D	0.959191	D;D;D	0.60160	0.987;0.976;0.976	P;P;P	0.57425	0.82;0.698;0.698	T	0.56709	-0.7934	9	.	.	.	-11.6947	9.7788	0.40637	0.0:0.9083:0.0:0.0917	.	267;367;398	Q8IWF9-3;Q8IWF9;Q8IWF9-2	.;CCD83_HUMAN;.	S	398;267;367	ENSP00000280245:P398S;ENSP00000365235:P267S;ENSP00000344512:P367S	.	P	+	1	0	CCDC83	85308058	0.431000	0.25546	1.000000	0.80357	0.861000	0.49209	2.272000	0.43373	2.822000	0.97130	0.650000	0.86243	CCC		0.408	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		T	85630410	C	T	85630410	3	4	161	1	0	0	0	0	1	0	0	0	2859	623	22	2	1234	2	CCDC83	11	85630410	Missense_Mutation	SNP	C	TCGA-B0-4844-01A-01D-1361-10	19238154	85630410	49376106	31	9525											
CACNA1C	775	hgsc.bcm.edu	37	12	2786309	2786310	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr12:2786309_2786310delGT	ENST00000347598.4	+	42	5022_5023	c.5022_5023delGT	c.(5020-5025)gagtacfs	p.Y1675fs	CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.Y1668fs|CACNA1C_ENST00000399655.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399634.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399641.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399617.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.Y1644fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.Y1647fs|CACNA1C_ENST00000406454.3_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.Y1652fs|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.Y1646fs|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.Y1646fs|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.Y1633fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.Y1646fs|CACNA1C_ENST00000399603.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.Y1635fs|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.Y1635fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.Y1655fs	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1675					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGATCCAGGAGTACTTCCGGAA	0.604																																																0																																										SO:0001589	frameshift_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5022_5023delGT	12.37:g.2786309_2786310delGT	ENSP00000266376:p.Tyr1675fs		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Frame_Shift_Del	DEL	ENST00000347598.4	37	CCDS44788.1																																																																																				0.604	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		-	2786310	GT	-	2786309	7	5	161	1	0	1	0	1	0	0	0	0	2542	1020	36	0	5419	0	CACNA1C	12	2786309	Frame_Shift_Del	DEL	GT	TCGA-B0-4844-01A-01D-1361-10		2786309	131065586	32	9526											
LIN7A	8825	hgsc.bcm.edu	37	12	81239680	81239680	+	Silent	SNP	G	G	C			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr12:81239680G>C	ENST00000552864.1	-	4	514	c.312C>G	c.(310-312)tcC>tcG	p.S104S		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	104					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CTCGAGGGTGGGAGTGGCCTT	0.403																																																0													51	50	50					12																	81239680		2203	4300	6503	SO:0001819	synonymous_variant	8825			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"mammalian LIN-7 1"	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.312C>G	12.37:g.81239680G>C			A4FTY3|Q147W1|Q6LES3|Q7LDS4	Silent	SNP	ENST00000552864.1	37	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	G	0.424	-0.906775	0.02434	.	.	ENSG00000111052	ENST00000552093	.	.	.	5.27	2.42	0.29668	.	.	.	.	.	T	0.43255	0.1239	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26467	-1.0102	4	.	.	.	-5.7752	1.4165	0.02302	0.294:0.1272:0.4312:0.1476	.	.	.	.	R	70	.	.	P	-	2	0	LIN7A	79763811	0.989000	0.36119	1.000000	0.80357	0.126000	0.20510	0.213000	0.17521	0.296000	0.22592	-0.150000	0.13652	CCC		0.403	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			C	81239680	G	C	81239680	2	2	161	1	0	0	0	0	0	0	0	1	8812	1219	43	4		4	LIN7A	12	81239680	Silent	SNP	G	TCGA-B0-4844-01A-01D-1361-10	78453371	81239680	52612215	33	9527											
SPATA13	221178	hgsc.bcm.edu	37	13	24860482	24860482	+	Missense_Mutation	SNP	G	G	T	rs267603784		TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr13:24860482G>T	ENST00000382095.4	+	5	964	c.557G>T	c.(556-558)tGg>tTg	p.W186L	SPATA13_ENST00000382108.3_Missense_Mutation_p.W811L|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.W689L|SPATA13_ENST00000399949.2_Missense_Mutation_p.W108L|SPATA13_ENST00000409126.1_Missense_Mutation_p.W108L|SPATA13_ENST00000343003.6_Missense_Mutation_p.W130L|SPATA13_ENST00000424834.2_Missense_Mutation_p.W811L	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	186	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.W186*(2)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GACTGGTGGTGGGGCCGCAGT	0.582																																																2	Substitution - Nonsense(2)	skin(2)											69	65	67					13																	24860482		2203	4300	6503	SO:0001583	missense	221178			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.557G>T	13.37:g.24860482G>T	ENSP00000371527:p.Trp186Leu		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002742	0.93227	.	.	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083	T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.25	5.25	0.73442	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	L	0.31065	0.9	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.996;0.998;0.996;0.996;0.998	D;D;D;D;D;D	0.83275	0.996;0.966;0.994;0.966;0.966;0.98	T	0.43065	-0.9414	10	0.23891	T	0.37	.	17.8523	0.88751	0.0:0.0:1.0:0.0	.	108;130;132;132;108;186	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.;.;.;.;.;SPT13_HUMAN	L	811;186;146;132;108;108;130;130	ENSP00000371542:W811L;ENSP00000371527:W186L;ENSP00000401605:W146L;ENSP00000382830:W108L;ENSP00000386471:W108L;ENSP00000343631:W130L;ENSP00000397498:W130L	ENSP00000343631:W130L	W	+	2	0	SPATA13	23758482	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.471000	0.97696	2.462000	0.83206	0.655000	0.94253	TGG		0.582	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		T	24860482	G	T	24860482	3	4	161	1	0	0	0	0	1	0	0	0	15005	1357	47	4	2450	4	SPATA13	13	24860482	Missense_Mutation	SNP	G	TCGA-B0-4844-01A-01D-1361-10		24860482	90309396	34	9528											
IL16	3603	hgsc.bcm.edu;ucsc.edu	37	15	81582852	81582852	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr15:81582852G>T	ENST00000302987.4	+	10	1391	c.1391G>T	c.(1390-1392)gGa>gTa	p.G464V	IL16_ENST00000394660.2_Missense_Mutation_p.G464V			Q14005	IL16_HUMAN	interleukin 16	464					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACCAAGTTTGGAAAGGAGAGG	0.408																																																0													123	131	128					15																	81582852		1909	4127	6036	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1391G>T	15.37:g.81582852G>T	ENSP00000302935:p.Gly464Val		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002323	0.54254	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.11063	2.81;2.81	4.89	4.89	0.63831	.	0.000000	0.43579	D	0.000558	T	0.25717	0.0626	M	0.65975	2.015	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.64237	0.84;0.923	T	0.00402	-1.1762	10	0.72032	D	0.01	.	9.051	0.36376	0.1604:0.0:0.8396:0.0	.	464;464	Q14005;Q14005-2	IL16_HUMAN;.	V	464;296;464	ENSP00000378155:G464V;ENSP00000302935:G464V	ENSP00000302935:G464V	G	+	2	0	IL16	79369907	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	1.930000	0.40124	2.537000	0.85549	0.655000	0.94253	GGA		0.408	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		T	81582852	G	T	81582852	3	4	161	1	0	0	0	0	1	0	0	0	7635	1174	41	4	1429	4	IL16	15	81582852	Missense_Mutation	SNP	G	TCGA-B0-4844-01A-01D-1361-10		81582852	20948540	35	9529											
ITGAX	3687	hgsc.bcm.edu	37	16	31373161	31373161	+	Silent	SNP	G	G	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr16:31373161G>T	ENST00000268296.4	+	10	1138	c.1017G>T	c.(1015-1017)acG>acT	p.T339T	ITGAX_ENST00000562522.1_Silent_p.T339T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	339	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.T339T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCCAGGTACGGAGACCACAA	0.577																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)											134	114	121					16																	31373161		2197	4300	6497	SO:0001819	synonymous_variant	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1017G>T	16.37:g.31373161G>T			Q8IVA6	Silent	SNP	ENST00000268296.4	37	CCDS10711.1																																																																																				0.577	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		T	31373161	G	T	31373161	2	4	161	1	0	0	0	0	0	0	0	1	7891	1103	39	4		4	ITGAX	16	31373161	Silent	SNP	G	TCGA-B0-4844-01A-01D-1361-10		31373161	58981592	36	9530											
GPR179	440435	hgsc.bcm.edu;ucsc.edu	37	17	36492024	36492024	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr17:36492024T>A	ENST00000342292.4	-	5	1251	c.1231A>T	c.(1231-1233)Atc>Ttc	p.I411F		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	411					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GATGCCCAGATCCTCTGTGAA	0.542																																																0													71	71	71					17																	36492024		2050	4198	6248	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1231A>T	17.37:g.36492024T>A	ENSP00000345060:p.Ile411Phe			Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945869	0.73672	.	.	ENSG00000188888	ENST00000342292	D	0.88896	-2.44	5.55	3.35	0.38373	GPCR, family 3, C-terminal (2);	0.148947	0.41194	D	0.000925	D	0.93138	0.7815	M	0.80616	2.505	0.45648	D	0.998576	D	0.76494	0.999	D	0.71414	0.973	D	0.92044	0.5643	10	0.72032	D	0.01	-14.2104	9.118	0.36769	0.0:0.1505:0.0:0.8495	.	411	Q6PRD1	GP179_HUMAN	F	411	ENSP00000345060:I411F	ENSP00000345060:I411F	I	-	1	0	GPR179	33745550	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.778000	0.68940	0.542000	0.28846	-0.290000	0.09829	ATC		0.542	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			A	36492024	T	A	36492024	3	1	161	1	0	0	0	0	1	0	0	0	6676	1435	50	5	5900	5	GPR179	17	36492024	Missense_Mutation	SNP	T	TCGA-B0-4844-01A-01D-1361-10		36492024	44703186	37	9531											
LAMA3	3909	hgsc.bcm.edu;ucsc.edu	37	18	21406683	21406683	+	Silent	SNP	C	C	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr18:21406683C>A	ENST00000313654.9	+	22	2830	c.2589C>A	c.(2587-2589)ctC>ctA	p.L863L	LAMA3_ENST00000399516.3_Silent_p.L863L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	863	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGGTGCTGCTCCCCAGGGACT	0.453																																																0													41	42	42					18																	21406683		1896	4119	6015	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2589C>A	18.37:g.21406683C>A			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.453	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21406683	C	A	21406683	2	1	161	1	0	0	0	0	0	0	0	1	8609	842	30	4		4	LAMA3	18	21406683	Silent	SNP	C	TCGA-B0-4844-01A-01D-1361-10		21406683	56670565	38	9532											
LAMA3	3909	hgsc.bcm.edu	37	18	21470048	21470048	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr18:21470048G>C	ENST00000313654.9	+	42	5618	c.5377G>C	c.(5377-5379)Ggc>Cgc	p.G1793R	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1793R|LAMA3_ENST00000269217.6_Missense_Mutation_p.G184R|LAMA3_ENST00000587184.1_Missense_Mutation_p.G184R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1793	Domain III A.|Laminin EGF-like 15; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TAACAGCAATGGCCAGCTGGG	0.498																																																0													98	95	96					18																	21470048		2203	4300	6503	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5377G>C	18.37:g.21470048G>C	ENSP00000324532:p.Gly1793Arg		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977526	0.53720	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.23754	1.89;1.93;2.92	5.48	5.48	0.80851	.	.	.	.	.	T	0.52725	0.1752	M	0.69823	2.125	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.992	T	0.54669	-0.8259	9	0.87932	D	0	.	18.1428	0.89646	0.0:0.0:1.0:0.0	.	184;184;1793;1793	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	R	1793;1793;184	ENSP00000324532:G1793R;ENSP00000382432:G1793R;ENSP00000269217:G184R	ENSP00000269217:G184R	G	+	1	0	LAMA3	19724046	1.000000	0.71417	0.996000	0.52242	0.020000	0.10135	6.141000	0.71744	2.575000	0.86900	0.655000	0.94253	GGC		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		C	21470048	G	C	21470048	3	2	161	1	0	0	0	0	1	0	0	0	8609	1348	47	4	5718	4	LAMA3	18	21470048	Missense_Mutation	SNP	G	TCGA-B0-4844-01A-01D-1361-10	63365	21470048	56607200	39	9533											
LASS4	79603	hgsc.bcm.edu	37	19	8316056	8316056	+	Silent	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr19:8316056C>T	ENST00000251363.5	+	3	396	c.96C>T	c.(94-96)gtC>gtT	p.V32V	CERS4_ENST00000595722.1_Intron|CERS4_ENST00000559450.1_Silent_p.V32V|CERS4_ENST00000559336.1_Silent_p.V32V|CERS4_ENST00000558331.1_5'UTR	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	32					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.V32V(1)									ATGGCCGTGTCTACCCCCACC	0.597																																																1	Substitution - coding silent(1)	endometrium(1)											192	194	194					19																	8316056		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.96C>T	19.37:g.8316056C>T			D6W665	Silent	SNP	ENST00000251363.5	37	CCDS12197.1																																																																																				0.597	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		T	8316056	C	T	8316056	2	4	161	1	0	0	0	0	0	0	0	1	8643	900	32	2		2	LASS4	19	8316056	Silent	SNP	C	TCGA-B0-4844-01A-01D-1361-10		8316056	50812927	40	9534											
GPCPD1	56261	hgsc.bcm.edu;ucsc.edu	37	20	5559154	5559154	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr20:5559154C>A	ENST00000379019.4	-	8	789	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	193					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						AACTCATTGTCGCTTATTAAG	0.473																																																0													132	108	116					20																	5559154		2203	4300	6503	SO:0001583	missense	56261				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.577G>T	20.37:g.5559154C>A	ENSP00000368305:p.Asp193Tyr		D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793604	0.70452	.	.	ENSG00000125772	ENST00000379019	T	0.47869	0.83	5.35	4.41	0.53225	.	0.103309	0.64402	D	0.000004	T	0.32615	0.0835	N	0.24115	0.695	0.46798	D	0.999209	D	0.54964	0.969	B	0.42625	0.393	T	0.06481	-1.0824	10	0.35671	T	0.21	-9.7939	9.8733	0.41189	0.0:0.7847:0.0:0.2153	.	193	Q9NPB8	GPCP1_HUMAN	Y	193	ENSP00000368305:D193Y	ENSP00000368305:D193Y	D	-	1	0	GPCPD1	5507154	0.443000	0.25641	0.995000	0.50966	0.992000	0.81027	1.030000	0.30153	1.397000	0.46682	0.655000	0.94253	GAC		0.473	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		A	5559154	C	A	5559154	3	1	161	1	0	0	0	0	1	0	0	0	6605	884	31	4	1493	4	GPCPD1	20	5559154	Missense_Mutation	SNP	C	TCGA-B0-4844-01A-01D-1361-10		5559154	57466366	41	9535											
PLAGL2	5326	hgsc.bcm.edu	37	20	30785078	30785078	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr20:30785078T>A	ENST00000246229.4	-	3	932	c.668A>T	c.(667-669)tAc>tTc	p.Y223F		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	223					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGGGCACAGTACTGGCACAG	0.587																																					Colon(163;15 1893 11280 16306 47518)											0													65	44	51					20																	30785078		2203	4300	6503	SO:0001583	missense	5326				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.668A>T	20.37:g.30785078T>A	ENSP00000246229:p.Tyr223Phe		A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092641	0.36952	.	.	ENSG00000126003	ENST00000246229	T	0.77229	-1.08	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	N	0.12637	0.245	0.52501	D	0.999958	P	0.44816	0.844	P	0.50825	0.651	T	0.65533	-0.6145	10	0.09590	T	0.72	.	15.3068	0.73998	0.0:0.0:0.0:1.0	.	223	Q9UPG8	PLAL2_HUMAN	F	223	ENSP00000246229:Y223F	ENSP00000246229:Y223F	Y	-	2	0	PLAGL2	30248739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.977000	0.70492	2.208000	0.71279	0.454000	0.30748	TAC		0.587	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		A	30785078	T	A	30785078	3	1	161	1	0	0	0	0	1	0	0	0	12022	1638	57	5	826	5	PLAGL2	20	30785078	Missense_Mutation	SNP	T	TCGA-B0-4844-01A-01D-1361-10	25225924	30785078	32240442	42	9536											
SAMHD1	25939	hgsc.bcm.edu;ucsc.edu	37	20	35547821	35547821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr20:35547821G>T	ENST00000262878.4	-	7	997	c.798C>A	c.(796-798)tgC>tgA	p.C266*	SAMHD1_ENST00000373694.5_Nonsense_Mutation_p.C51*	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	266	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CCTTTATAAAGCAAATATCTT	0.353																																																0													123	114	117					20																	35547821		2202	4300	6502	SO:0001587	stop_gained	25939			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.798C>A	20.37:g.35547821G>T	ENSP00000262878:p.Cys266*		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Nonsense_Mutation	SNP	ENST00000262878.4	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	36	5.626674	0.96671	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	.	.	.	5.71	-0.0481	0.13840	.	0.691890	0.15664	N	0.250776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-0.5118	2.6173	0.04907	0.4125:0.1215:0.3526:0.1133	.	.	.	.	X	266;51	.	ENSP00000262878:C266X	C	-	3	2	SAMHD1	34981235	0.002000	0.14202	0.827000	0.32855	0.992000	0.81027	-0.080000	0.11339	-0.191000	0.10448	0.557000	0.71058	TGC		0.353	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		T	35547821	G	T	35547821	4	4	161	1	0	0	0	0	0	1	0	0	13834	963	34	4	1122	4	SAMHD1	20	35547821	Nonsense_Mutation	SNP	G	TCGA-B0-4844-01A-01D-1361-10	4762743	35547821	27477699	43	9537											
RNF160	26046	hgsc.bcm.edu	37	21	30331797	30331797	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr21:30331797T>G	ENST00000361371.5	-	13	2655	c.2576A>C	c.(2575-2577)gAa>gCa	p.E859A	LTN1_ENST00000389194.2_Missense_Mutation_p.E905A			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	859					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATGTGTTTTTTCTTTGCTCTG	0.403																																																0													98	101	100					21																	30331797		2203	4300	6503	SO:0001583	missense	0			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2576A>C	21.37:g.30331797T>G	ENSP00000354977:p.Glu859Ala		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	T	10.99	1.508078	0.27036	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.18174	2.23;2.24	5.55	4.38	0.52667	.	0.338803	0.32868	N	0.005545	T	0.10035	0.0246	N	0.19112	0.55	0.30949	N	0.724976	B	0.02656	0.0	B	0.04013	0.001	T	0.15838	-1.0423	10	0.20519	T	0.43	.	8.6741	0.34167	0.0:0.0679:0.1299:0.8021	.	859	O94822	LTN1_HUMAN	A	905;859	ENSP00000373846:E905A;ENSP00000354977:E859A	ENSP00000354977:E859A	E	-	2	0	LTN1	29253668	0.988000	0.35896	0.996000	0.52242	0.999000	0.98932	2.007000	0.40883	1.087000	0.41251	0.533000	0.62120	GAA		0.403	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		G	30331797	T	G	30331797	3	3	161	1	0	0	0	0	1	0	0	0	13461	1783	62	5	2796	5	RNF160	21	30331797	Missense_Mutation	SNP	T	TCGA-B0-4844-01A-01D-1361-10		30331797	17798098	44	9538											
MICAL3	57553	hgsc.bcm.edu;ucsc.edu	37	22	18362165	18362165	+	Intron	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr22:18362165A>G	ENST00000441493.2	-	16	2594				MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000429452.1_Missense_Mutation_p.Y782H|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.Y782H	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGATCCCTGTATGTCTGTTGG	0.493																																																0													149	125	133					22																	18362165		1568	3582	5150	SO:0001627	intron_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2241+6478T>C	22.37:g.18362165A>G			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	A	9.493	1.101083	0.20552	.	.	ENSG00000093100	ENST00000429452	T	0.67345	-0.26	5.45	3.32	0.38043	.	.	.	.	.	T	0.44030	0.1274	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.25916	-1.0118	8	0.15066	T	0.55	.	4.9877	0.14198	0.7186:0.0:0.1476:0.1338	.	782	B2RXJ5	.	H	782	ENSP00000414846:Y782H	ENSP00000414846:Y782H	Y	-	1	0	XXbac-B461K10.4	16742165	0.000000	0.05858	0.545000	0.28153	0.998000	0.95712	0.247000	0.18179	0.441000	0.26529	0.533000	0.62120	TAC		0.493	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			G	18362165	A	G	18362165	1	3	161	0	1	0	0	0	0	0	0	0	9573	449	16	3		3	MICAL3	22	18362165	Intron	SNP	A	TCGA-B0-4844-01A-01D-1361-10		18362165	32942401	45	9539											
USP18	11274	hgsc.bcm.edu	37	22	18640563	18640563	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr22:18640563C>T	ENST00000215794.7	+	2	563	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	45					cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.P45S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CAGAGAGCGTCCCAGGGCCTG	0.562																																																1	Substitution - Missense(1)	breast(1)											107	106	106					22																	18640563		2203	4300	6503	SO:0001583	missense	11274			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.133C>T	22.37:g.18640563C>T	ENSP00000215794:p.Pro45Ser		Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	CCDS13752.1	.	.	.	.	.	.	.	.	.	.	.	0.813	-0.751330	0.03041	.	.	ENSG00000184979	ENST00000215794	T	0.06218	3.33	4.61	-1.42	0.08913	.	2.021530	0.01938	N	0.041685	T	0.04452	0.0122	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40136	-0.9579	10	0.21540	T	0.41	.	7.5855	0.27991	0.0:0.4226:0.0:0.5774	.	45	Q9UMW8	UBP18_HUMAN	S	45	ENSP00000215794:P45S	ENSP00000215794:P45S	P	+	1	0	USP18	17020563	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.592000	0.05747	-0.037000	0.13646	0.591000	0.81541	CCC		0.562	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			T	18640563	C	T	18640563	3	4	161	1	0	0	0	0	1	0	0	0	17054	855	30	2	135	2	USP18	22	18640563	Missense_Mutation	SNP	C	TCGA-B0-4844-01A-01D-1361-10	278398	18640563	32664003	46	9540											
KDM5C	8242	hgsc.bcm.edu;ucsc.edu	37	X	53228214	53228214	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chrX:53228214A>G	ENST00000375401.3	-	15	2720	c.2188T>C	c.(2188-2190)Tgc>Cgc	p.C730R	KDM5C_ENST00000404049.3_Missense_Mutation_p.C729R|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000452825.3_Missense_Mutation_p.C663R|KDM5C_ENST00000375383.3_Missense_Mutation_p.C689R|KDM5C_ENST00000375379.3_Missense_Mutation_p.C730R	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	730					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGGGAAAGGCAGACAAGGCCG	0.567			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													144	109	121					X																	53228214		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2188T>C	X.37:g.53228214A>G	ENSP00000364550:p.Cys730Arg		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	a	21.7	4.194712	0.78902	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.99791	-6.76;-6.76;-6.76;-6.76;-6.76	4.69	4.69	0.59074	Zinc finger, C5HC2-type (1);	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	M	0.92738	3.34	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.76071	0.978;0.987;0.987	D	0.97320	0.9943	10	0.87932	D	0	-4.307	11.2689	0.49127	1.0:0.0:0.0:0.0	.	663;729;730	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	R	663;730;729;730;689	ENSP00000445176:C663R;ENSP00000364550:C730R;ENSP00000385394:C729R;ENSP00000364528:C730R;ENSP00000364532:C689R	ENSP00000364528:C730R	C	-	1	0	KDM5C	53244939	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.213000	0.95133	1.556000	0.49512	0.422000	0.28245	TGC		0.567	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		G	53228214	A	G	53228214	3	3	161	1	0	0	0	0	1	0	0	0	8137	188	7	3	2640	3	KDM5C	23	53228214	Missense_Mutation	SNP	A	TCGA-B0-4844-01A-01D-1361-10		53228214	102042346	47	9541											
LAS1L	81887	hgsc.bcm.edu	37	X	64744051	64744051	+	Silent	SNP	C	C	A	rs373278066		TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chrX:64744051C>A	ENST00000374811.3	-	10	1225	c.1185G>T	c.(1183-1185)acG>acT	p.T395T	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Silent_p.T378T|LAS1L_ENST00000374804.5_Silent_p.T336T	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	395					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T395T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ATAGGGCCTGCGTGAAGTTCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)											44	38	40					X																	64744051		2203	4300	6503	SO:0001819	synonymous_variant	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1185G>T	X.37:g.64744051C>A			A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	CCDS14381.1																																																																																				0.572	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		A	64744051	C	A	64744051	2	1	161	1	0	0	0	0	0	0	0	1	8638	755	27	4		4	LAS1L	23	64744051	Silent	SNP	C	TCGA-B0-4844-01A-01D-1361-10	11515837	64744051	90526509	48	9542											
PAK3	5063	hgsc.bcm.edu;ucsc.edu	37	X	110366370	110366370	+	Silent	SNP	T	T	C			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chrX:110366370T>C	ENST00000372010.1	+	5	481	c.39T>C	c.(37-39)gcT>gcC	p.A13A	PAK3_ENST00000262836.4_Silent_p.A13A|PAK3_ENST00000360648.4_Silent_p.A13A|PAK3_ENST00000446737.1_Silent_p.A13A|PAK3_ENST00000417227.1_Silent_p.A13A|PAK3_ENST00000518291.1_Silent_p.A13A|PAK3_ENST00000425146.1_Silent_p.A13A|PAK3_ENST00000519681.1_Silent_p.A13A|PAK3_ENST00000372007.5_Silent_p.A13A			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	13					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACCCCCGGCTCCTCCACTGA	0.458										TSP Lung(19;0.15)																																						0													113	115	115					X																	110366370		2203	4300	6503	SO:0001819	synonymous_variant	5063			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.39T>C	X.37:g.110366370T>C			A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	CCDS48153.1																																																																																				0.458	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		C	110366370	T	C	110366370	2	2	161	1	0	0	0	0	0	0	0	1	11404	1538	54	3		3	PAK3	23	110366370	Silent	SNP	T	TCGA-B0-4844-01A-01D-1361-10	45622319	110366370	44904190	49	9543											
VHL	7428	hgsc.bcm.edu	37	3	10183794	10183794	+	Nonsense_Mutation	SNP	G	G	A	rs119103277		TCGA-B0-4845-01A-01W-1359-10	TCGA-B0-4845-11A-01D-2279-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	6262bfe5-6b54-4461-a4dd-fe4d910e4164	13825051-a2a4-4f7b-af1b-fb223197630e	g.chr3:10183794G>A	ENST00000256474.2	+	1	1103	c.263G>A	c.(262-264)tGg>tAg	p.W88*	VHL_ENST00000345392.2_Nonsense_Mutation_p.W88*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	88			W -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|W -> S (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W88*(6)|p.W88L(3)|p.W88fs*71(3)|p.V87_W88del(2)|p.W88S(2)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGCCCGTATGGCTCAACTTC	0.726		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	19	Substitution - Nonsense(6)|Substitution - Missense(5)|Deletion - Frameshift(5)|Deletion - In frame(2)|Complex - deletion inframe(1)	kidney(17)|endometrium(1)|soft_tissue(1)	GRCh37	CM951277|HX971376	VHL	M|X	rs119103277						13	16	15					3																	10183794		2111	4166	6277	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.263G>A	3.37:g.10183794G>A	ENSP00000256474:p.Trp88*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.880416	0.97062	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5857	16.0203	0.80478	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000256474:W88X	W	+	2	0	VHL	10158794	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	5.961000	0.70356	2.368000	0.80403	0.479000	0.44913	TGG		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183794	G	A	10183794	4	1	162	1	0	0	0	0	0	1	0	0	17167	1357	47	2	265	2	VHL	3	10183794	Nonsense_Mutation	SNP	G	TCGA-B0-4845-01A-01W-1359-10		10183794	187838636	1	9544											
MTOR	2475	hgsc.bcm.edu;ucsc.edu	37	1	11189847	11189847	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr1:11189847A>T	ENST00000361445.4	-	40	5738	c.5662T>A	c.(5662-5664)Ttc>Atc	p.F1888I	MTOR_ENST00000376838.1_Missense_Mutation_p.F93I|MTOR_ENST00000495435.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1888	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GAACGGAAGAAGCCCTGGACG	0.522																																																0													177	141	153					1																	11189847		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5662T>A	1.37:g.11189847A>T	ENSP00000354558:p.Phe1888Ile		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	35	5.581516	0.96565	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.76839	-1.05;-1.05	5.79	5.79	0.91817	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.91693	0.7374	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94029	0.7299	10	0.87932	D	0	-25.9408	16.1354	0.81481	1.0:0.0:0.0:0.0	.	1888	P42345	MTOR_HUMAN	I	1888;93	ENSP00000354558:F1888I;ENSP00000366034:F93I	ENSP00000354558:F1888I	F	-	1	0	MTOR	11112434	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.920000	0.92779	2.207000	0.71202	0.533000	0.62120	TTC		0.522	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11189847	A	T	11189847	3	4	163	1	0	0	0	0	1	0	0	0	9956	72	3	5	2063	5	MTOR	1	11189847	Missense_Mutation	SNP	A	TCGA-B0-4846-01A-01D-1361-10		11189847	238060774	1	9545											
FAF1	11124	hgsc.bcm.edu;ucsc.edu	37	1	50941223	50941223	+	Silent	SNP	G	G	A			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr1:50941223G>A	ENST00000396153.2	-	18	2233	c.1782C>T	c.(1780-1782)aaC>aaT	p.N594N	FAF1_ENST00000371778.4_Silent_p.N594N|FAF1_ENST00000545823.1_Silent_p.N352N	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	594	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCTGGAGCTTGTTGCTGGCCA	0.507																																																0													87	90	89					1																	50941223		2203	4300	6503	SO:0001819	synonymous_variant	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1782C>T	1.37:g.50941223G>A			Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Silent	SNP	ENST00000396153.2	37	CCDS554.1																																																																																				0.507	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		A	50941223	G	A	50941223	2	1	163	1	0	0	0	0	0	0	0	1	5371	1368	48	2		2	FAF1	1	50941223	Silent	SNP	G	TCGA-B0-4846-01A-01D-1361-10	39751376	50941223	198309398	2	9546											
PTGFR	5737	hgsc.bcm.edu;ucsc.edu	37	1	78958563	78958563	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr1:78958563C>G	ENST00000370757.3	+	2	372	c.135C>G	c.(133-135)agC>agG	p.S45R	PTGFR_ENST00000370756.3_Missense_Mutation_p.S45R|PTGFR_ENST00000370758.1_Missense_Mutation_p.S45R	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	45					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TGTCAAACAGCCTTGCCATCG	0.458																																																0													106	105	105					1																	78958563		2203	4300	6503	SO:0001583	missense	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.135C>G	1.37:g.78958563C>G	ENSP00000359793:p.Ser45Arg		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895528	0.52121	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.39056	1.1;1.1;1.1	5.55	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.193604	0.53938	D	0.000056	T	0.36166	0.0957	L	0.40543	1.245	0.48762	D	0.999709	D;D	0.76494	0.998;0.999	D;D	0.72075	0.976;0.973	T	0.13229	-1.0517	10	0.27785	T	0.31	-18.9624	7.9512	0.30017	0.0:0.7308:0.0:0.2692	.	45;45	P43088;P43088-2	PF2R_HUMAN;.	R	45	ENSP00000359794:S45R;ENSP00000359793:S45R;ENSP00000359792:S45R	ENSP00000359792:S45R	S	+	3	2	PTGFR	78731151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.853000	0.39358	1.488000	0.48433	0.655000	0.94253	AGC		0.458	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		G	78958563	C	G	78958563	3	3	163	1	0	0	0	0	1	0	0	0	12755	738	26	4	137	4	PTGFR	1	78958563	Missense_Mutation	SNP	C	TCGA-B0-4846-01A-01D-1361-10	28017340	78958563	170292058	3	9547											
PKN2	5586	hgsc.bcm.edu;ucsc.edu	37	1	89298945	89298945	+	Silent	SNP	T	T	C			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr1:89298945T>C	ENST00000370521.3	+	22	3128	c.2769T>C	c.(2767-2769)gcT>gcC	p.A923A	PKN2_ENST00000544045.1_Silent_p.A597A|PKN2_ENST00000370513.5_Silent_p.A875A|PKN2_ENST00000370505.3_Silent_p.A766A|PKN2_ENST00000495119.1_3'UTR	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	923	AGC-kinase C-terminal.|Necessary for the catalytic activity.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ATTGGAGCGCTCTGATGGACA	0.318																																																0													103	94	97					1																	89298945		1834	4080	5914	SO:0001819	synonymous_variant	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2769T>C	1.37:g.89298945T>C			B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Silent	SNP	ENST00000370521.3	37	CCDS714.1																																																																																				0.318	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		C	89298945	T	C	89298945	2	2	163	1	0	0	0	0	0	0	0	1	11982	1538	54	3		3	PKN2	1	89298945	Silent	SNP	T	TCGA-B0-4846-01A-01D-1361-10	10340382	89298945	159951676	4	9548											
AMY1A	277	hgsc.bcm.edu	37	1	104238207	104238207	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr1:104238207A>G	ENST00000330330.5	-	2	349	c.55T>C	c.(55-57)Tca>Cca	p.S19P	AMY1B_ENST00000464691.1_5'Flank|AMY1B_ENST00000370080.3_Missense_Mutation_p.S19P	NM_001008218.1	NP_001008219.1	P04745	AMY1_HUMAN	amylase, alpha 1B (salivary)	19					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TGTGTATTTGAGGAATACTGA	0.398																																																0													1	1	1					1																	104238207		3	6	9	SO:0001583	missense	277				CCDS30783.1	1p21	2012-10-02	2007-05-03		ENSG00000174876	ENSG00000174876	3.2.1.1		475	protein-coding gene	gene with protein product		104701	"amylase, alpha 1B; salivary"	AMY1			Standard	XM_005270758		Approved			P04745	OTTHUMG00000011021	ENST00000330330.5:c.55T>C	1.37:g.104238207A>G	ENSP00000330484:p.Ser19Pro		A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP	ENST00000330330.5	37	CCDS30783.1	.	.	.	.	.	.	.	.	.	.	-	0.011	-1.704669	0.00719	.	.	ENSG00000174876	ENST00000416771;ENST00000370080;ENST00000330330;ENST00000446703;ENST00000425410	.	.	.	2.08	2.08	0.27032	.	0.000000	0.85682	N	0.000000	T	0.03608	0.0103	.	.	.	0.23802	N	0.996809	.	.	.	.	.	.	T	0.45659	-0.9246	6	0.02654	T	1	.	8.8097	0.34961	0.121:0.0:0.879:0.0	.	.	.	.	P	19	.	ENSP00000330484:S19P	S	-	1	0	AMY1B	104039730	1.000000	0.71417	0.014000	0.15608	0.178000	0.23041	6.955000	0.76007	0.210000	0.20664	-1.160000	0.01791	TCA		0.398	AMY1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030309.1	NM_001008218		G	104238207	A	G	104238207	3	3	163	1	0	0	0	0	1	0	0	0	591	304	11	3	3096	3	AMY1A	1	104238207	Missense_Mutation	SNP	A	TCGA-B0-4846-01A-01D-1361-10	14939262	104238207	145012414	5	9549											
SLC25A44	9673	hgsc.bcm.edu;ucsc.edu	37	1	156169866	156169866	+	Silent	SNP	G	G	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr1:156169866G>T	ENST00000359511.4	+	2	400	c.228G>T	c.(226-228)ggG>ggT	p.G76G	SLC25A44_ENST00000423538.2_Silent_p.G76G|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	76					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TCTACCGAGGGTTCCTGGTCA	0.527																																																0													114	105	108					1																	156169866		2203	4300	6503	SO:0001819	synonymous_variant	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.228G>T	1.37:g.156169866G>T			O75034	Silent	SNP	ENST00000359511.4	37	CCDS1133.1																																																																																				0.527	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		T	156169866	G	T	156169866	2	4	163	1	0	0	0	0	0	0	0	1	14515	1248	44	4		4	SLC25A44	1	156169866	Silent	SNP	G	TCGA-B0-4846-01A-01D-1361-10	51931659	156169866	93080755	6	9550											
TNN	63923	hgsc.bcm.edu	37	1	175053032	175053032	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr1:175053032C>T	ENST00000239462.4	+	5	1308	c.1195C>T	c.(1195-1197)Ccc>Tcc	p.P399S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	399	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTCACTGTGCCCAAGAGCAG	0.537																																																0													132	107	116					1																	175053032		2203	4300	6503	SO:0001583	missense	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1195C>T	1.37:g.175053032C>T	ENSP00000239462:p.Pro399Ser		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738693	0.49045	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57752	0.38	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.381500	0.30732	N	0.008984	T	0.52789	0.1756	L	0.53617	1.68	0.30437	N	0.77655	P;P	0.36354	0.549;0.47	B;B	0.42138	0.228;0.377	T	0.58567	-0.7614	10	0.39692	T	0.17	.	12.4042	0.55430	0.0:0.9225:0.0:0.0775	.	399;399	B3KXB6;Q9UQP3	.;TENN_HUMAN	S	399	ENSP00000239462:P399S	ENSP00000239462:P399S	P	+	1	0	TNN	173319655	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	3.071000	0.50041	2.572000	0.86782	0.591000	0.81541	CCC		0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		T	175053032	C	T	175053032	3	4	163	1	0	0	0	0	1	0	0	0	16328	739	26	2	1209	2	TNN	1	175053032	Missense_Mutation	SNP	C	TCGA-B0-4846-01A-01D-1361-10	18883166	175053032	74197589	7	9551											
MAP4K3	8491	hgsc.bcm.edu;ucsc.edu	37	2	39552914	39552914	+	Missense_Mutation	SNP	G	G	A	rs182117796		TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr2:39552914G>A	ENST00000263881.3	-	11	1088	c.764C>T	c.(763-765)aCc>aTc	p.T255I	RP11-449G16.1_ENST00000609671.1_RNA|MAP4K3_ENST00000437545.1_Missense_Mutation_p.T192I|MAP4K3_ENST00000341681.5_Missense_Mutation_p.T255I|MAP4K3_ENST00000536018.1_5'UTR	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CGGATTTTTGGTAAGTGCCAT	0.259																																																0													61	69	67					2																	39552914		2200	4291	6491	SO:0001583	missense	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.764C>T	2.37:g.39552914G>A	ENSP00000263881:p.Thr255Ile		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	24.3	4.519891	0.85495	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.66460	-0.21;-0.21;-0.21	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	N	0.13327	0.33	0.80722	D	1	P;P	0.40638	0.555;0.725	B;P	0.54706	0.211;0.759	T	0.62793	-0.6779	9	.	.	.	.	20.1739	0.98173	0.0:0.0:1.0:0.0	.	255;255	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	I	255;192;255	ENSP00000263881:T255I;ENSP00000416958:T192I;ENSP00000345434:T255I	.	T	-	2	0	MAP4K3	39406418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.155000	0.71833	2.774000	0.95407	0.585000	0.79938	ACC		0.259	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		A	39552914	G	A	39552914	3	1	163	1	0	0	0	0	1	0	0	0	9263	1261	44	2	2016	2	MAP4K3	2	39552914	Missense_Mutation	SNP	G	TCGA-B0-4846-01A-01D-1361-10		39552914	203646459	8	9552											
BBX	56987	hgsc.bcm.edu;ucsc.edu	37	3	107429337	107429337	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr3:107429337T>G	ENST00000325805.8	+	4	317	c.30T>G	c.(28-30)caT>caG	p.H10Q	BBX_ENST00000416476.2_Missense_Mutation_p.H10Q|BBX_ENST00000415149.2_Missense_Mutation_p.H10Q|BBX_ENST00000406780.1_Missense_Mutation_p.H10Q|BBX_ENST00000402543.1_Missense_Mutation_p.H10Q			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	10					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ATAAGGATCATTCAGCAGAAG	0.418																																																0													107	101	103					3																	107429337		2203	4300	6503	SO:0001583	missense	56987			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.30T>G	3.37:g.107429337T>G	ENSP00000319974:p.His10Gln		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676146	0.67928	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000454540;ENST00000431630;ENST00000449335;ENST00000456817;ENST00000458458;ENST00000437908;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449271;ENST00000425868;ENST00000449213;ENST00000457496;ENST00000429270	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98978	-4.67;-4.69;-4.7;-4.99;-5.19;-4.97;-5.0;-5.29;-4.67;-4.44;-1.72;-4.55;-4.56	5.66	3.28	0.37604	.	0.090097	0.85682	D	0.000000	D	0.98245	0.9419	L	0.29908	0.895	0.33454	D	0.584098	D;D;P;D	0.76494	0.999;0.999;0.868;0.984	D;D;B;D	0.73708	0.958;0.981;0.312;0.974	D	0.99406	1.0929	10	0.87932	D	0	-1.1274	9.8178	0.40862	0.0:0.2007:0.0:0.7993	.	10;10;10;10	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	Q	10	ENSP00000408358:H10Q;ENSP00000385317:H10Q;ENSP00000319974:H10Q;ENSP00000413320:H10Q;ENSP00000403860:H10Q;ENSP00000408297:H10Q;ENSP00000413274:H10Q;ENSP00000385518:H10Q;ENSP00000385530:H10Q;ENSP00000403806:H10Q;ENSP00000406554:H10Q;ENSP00000407662:H10Q;ENSP00000414673:H10Q	ENSP00000319974:H10Q	H	+	3	2	BBX	108912027	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	0.119000	0.15626	0.515000	0.28320	0.528000	0.53228	CAT		0.418	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		G	107429337	T	G	107429337	3	3	163	1	0	0	0	0	1	0	0	0	1343	1490	52	5	32	5	BBX	3	107429337	Missense_Mutation	SNP	T	TCGA-B0-4846-01A-01D-1361-10		107429337	90593093	9	9553											
PARP15	165631	hgsc.bcm.edu;ucsc.edu	37	3	122324838	122324838	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr3:122324838C>A	ENST00000464300.2	+	2	308	c.242C>A	c.(241-243)gCt>gAt	p.A81D	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Missense_Mutation_p.A81D	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	81	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AATGTTGTAGCTTCAATCCAA	0.388																																																0													220	186	197					3																	122324838		692	1591	2283	SO:0001583	missense	165631			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.242C>A	3.37:g.122324838C>A	ENSP00000417214:p.Ala81Asp		J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	C	7.161	0.585773	0.13749	.	.	ENSG00000173200	ENST00000464300;ENST00000483793	T;T	0.16324	2.65;2.35	2.34	1.42	0.22433	Appr-1-p processing (1);	.	.	.	.	T	0.10809	0.0264	N	0.24115	0.695	0.09310	N	1	B;B	0.14805	0.004;0.011	B;B	0.10450	0.005;0.005	T	0.31223	-0.9951	9	0.35671	T	0.21	.	7.4671	0.27328	0.2585:0.7415:0.0:0.0	.	81;59	C9J7L3;Q460N3	.;PAR15_HUMAN	D	81	ENSP00000417214:A81D;ENSP00000417785:A81D	ENSP00000417214:A81D	A	+	2	0	PARP15	123807528	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.145000	0.10265	0.316000	0.23135	-0.182000	0.12963	GCT		0.388	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		A	122324838	C	A	122324838	3	1	163	1	0	0	0	0	1	0	0	0	11461	797	28	4	248	4	PARP15	3	122324838	Missense_Mutation	SNP	C	TCGA-B0-4846-01A-01D-1361-10	14895501	122324838	75697592	10	9554											
TOPBP1	11073	hgsc.bcm.edu;ucsc.edu	37	3	133347540	133347540	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr3:133347540C>T	ENST00000260810.5	-	15	2689	c.2558G>A	c.(2557-2559)aGc>aAc	p.S853N		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	853					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTCTGTTGGCTGGGACGTCC	0.458								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)											0													77	77	77					3																	133347540		1979	4160	6139	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2558G>A	3.37:g.133347540C>T	ENSP00000260810:p.Ser853Asn		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	5.864	0.343511	0.11069	.	.	ENSG00000163781	ENST00000260810	T	0.22336	1.96	5.31	4.41	0.53225	.	0.626869	0.18913	N	0.127712	T	0.12518	0.0304	L	0.28192	0.835	0.34795	D	0.736168	B	0.12013	0.005	B	0.10450	0.005	T	0.18335	-1.0340	10	0.16420	T	0.52	.	6.4983	0.22153	0.0:0.662:0.1491:0.1889	.	853	Q92547	TOPB1_HUMAN	N	853	ENSP00000260810:S853N	ENSP00000260810:S853N	S	-	2	0	TOPBP1	134830230	0.134000	0.22483	0.490000	0.27465	0.137000	0.21094	0.085000	0.14912	1.298000	0.44778	0.650000	0.86243	AGC		0.458	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		T	133347540	C	T	133347540	3	4	163	1	0	0	0	0	1	0	0	0	16374	797	28	2	2066	2	TOPBP1	3	133347540	Missense_Mutation	SNP	C	TCGA-B0-4846-01A-01D-1361-10	11022702	133347540	64674890	11	9555											
ADCY2	108	hgsc.bcm.edu;ucsc.edu	37	5	7706858	7706858	+	Splice_Site	SNP	A	A	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr5:7706858A>T	ENST00000338316.4	+	8	1200	c.1111A>T	c.(1111-1113)Aaa>Taa	p.K371*	ADCY2_ENST00000537121.1_Splice_Site_p.K191*|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	371					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCTCTTTAGGAAAGTGAGGGA	0.418																																																0													227	204	212					5																	7706858		2203	4300	6503	SO:0001630	splice_region_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1110-1A>T	5.37:g.7706858A>T			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Nonsense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	A	34	5.305217	0.95601	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	15.1404	0.72607	1.0:0.0:0.0:0.0	.	.	.	.	X	371;222;191	.	ENSP00000342952:K371X	K	+	1	0	ADCY2	7759858	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	7.117000	0.77129	1.980000	0.57719	0.533000	0.62120	AAA		0.418	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	Nonsense_Mutation	T	7706858	A	T	7706858	5	4	163	1	0	0	0	0	0	0	1	0	294	260	9	5	1141	5	ADCY2	5	7706858	Splice_Site	SNP	A	TCGA-B0-4846-01A-01D-1361-10		7706858	173208402	12	9556											
RGNEF	64283	hgsc.bcm.edu;ucsc.edu	37	5	73144821	73144821	+	Silent	SNP	T	T	C			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr5:73144821T>C	ENST00000426542.2	+	12	1676	c.1656T>C	c.(1654-1656)gtT>gtC	p.V552V	ARHGEF28_ENST00000437974.1_Silent_p.V552V|ARHGEF28_ENST00000287898.5_Silent_p.V552V|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000296794.6_Silent_p.V552V|ARHGEF28_ENST00000545377.1_Silent_p.V552V|ARHGEF28_ENST00000513042.2_Silent_p.V552V|ARHGEF28_ENST00000296799.4_Silent_p.V239V			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	552					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TTTCTGGAGTTCGCTCACGTT	0.333																																																0													55	51	52					5																	73144821		1820	4080	5900	SO:0001819	synonymous_variant	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1656T>C	5.37:g.73144821T>C			B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	CCDS54870.1																																																																																				0.333	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			C	73144821	T	C	73144821	2	2	163	1	0	0	0	0	0	0	0	1	13289	1770	62	3		3	RGNEF	5	73144821	Silent	SNP	T	TCGA-B0-4846-01A-01D-1361-10	65437963	73144821	107770439	13	9557											
RIOK1	83732	hgsc.bcm.edu;ucsc.edu	37	6	7410657	7410657	+	Silent	SNP	G	G	A			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr6:7410657G>A	ENST00000379834.2	+	13	1749	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	414	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					AGGAAGAACGGTCTAGCCAAG	0.373																																																0													143	136	139					6																	7410657		2203	4300	6503	SO:0001819	synonymous_variant	83732			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1242G>A	6.37:g.7410657G>A			B2RB28|Q8NDC8|Q96NV9	Silent	SNP	ENST00000379834.2	37	CCDS4500.1																																																																																				0.373	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		A	7410657	G	A	7410657	2	1	163	1	0	0	0	0	0	0	0	1	13383	1248	44	2		2	RIOK1	6	7410657	Silent	SNP	G	TCGA-B0-4846-01A-01D-1361-10		7410657	163704410	14	9558											
FBXO9	26268	hgsc.bcm.edu	37	6	52957228	52957228	+	Splice_Site	SNP	G	G	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr6:52957228G>T	ENST00000244426.6	+	7	857	c.685G>T	c.(685-687)Gac>Tac	p.D229Y	RN7SL244P_ENST00000493405.2_RNA|FBXO9_ENST00000323557.7_Splice_Site_p.D219Y|FBXO9_ENST00000370939.3_Splice_Site_p.D185Y	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	229	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					ATTCCCTAGAGACCCTGAAAT	0.388																																																0													115	105	108					6																	52957228		1844	4089	5933	SO:0001630	splice_region_variant	26268			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"F-boxes /  "other""	13588	protein-coding gene	gene with protein product		609091	"F-box only protein 9"			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.684-1G>T	6.37:g.52957228G>T			A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	CCDS55023.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823958	0.90873	.	.	ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426	T;T;T	0.34667	1.35;1.35;1.35	5.41	5.41	0.78517	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.996	T	0.70575	-0.4834	10	0.87932	D	0	-24.2157	19.5526	0.95328	0.0:0.0:1.0:0.0	.	219;336;229	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	Y	185;219;229	ENSP00000359977:D185Y;ENSP00000326968:D219Y;ENSP00000244426:D229Y	ENSP00000244426:D229Y	D	+	1	0	FBXO9	53065187	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.701000	0.92244	0.563000	0.77884	GAC		0.388	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3		Missense_Mutation	T	52957228	G	T	52957228	5	4	163	1	0	0	0	0	0	0	1	0	5764	956	33	4	718	4	FBXO9	6	52957228	Splice_Site	SNP	G	TCGA-B0-4846-01A-01D-1361-10	45546571	52957228	118157839	15	9559											
C7orf11	136647	hgsc.bcm.edu;ucsc.edu	37	7	40172756	40172756	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr7:40172756G>T	ENST00000306984.6	-	2	533	c.442C>A	c.(442-444)Cct>Act	p.P148T	C7orf10_ENST00000309930.5_5'Flank|C7orf10_ENST00000401647.2_5'Flank|C7orf10_ENST00000540834.1_5'Flank|C7orf10_ENST00000335693.4_5'Flank	NM_138701.3	NP_619646.1	Q8TAP9	MPLKI_HUMAN	M-phase specific PLK1 interacting protein	148					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)											CCAGCCCAAGGATCTTCAAGC	0.383																																																0													155	152	153					7																	40172756		2203	4300	6503	SO:0001583	missense	0			AX048113	CCDS5463.1	7p14	2014-09-17	2012-03-01	2012-03-01	ENSG00000168303	ENSG00000168303			16002	protein-coding gene	gene with protein product	tricothiodystrophy, non-photosensitive 1	609188	"chromosome 7 open reading frame 11"	C7orf11		11829489	Standard	NM_138701		Approved	ORF20, TTDN1	uc003thl.4	Q8TAP9	OTTHUMG00000128797	ENST00000306984.6:c.442C>A	7.37:g.40172756G>T	ENSP00000304553:p.Pro148Thr			Missense_Mutation	SNP	ENST00000306984.6	37	CCDS5463.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293097	0.80914	.	.	ENSG00000168303	ENST00000306984	D	0.98987	-5.3	5.55	5.55	0.83447	.	0.397675	0.27604	N	0.018636	D	0.99105	0.9692	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99901	1.1163	10	0.87932	D	0	-13.9474	19.7069	0.96076	0.0:0.0:1.0:0.0	.	148	Q8TAP9	TTDN1_HUMAN	T	148	ENSP00000304553:P148T	ENSP00000304553:P148T	P	-	1	0	C7orf11	40139281	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.344000	0.79328	2.894000	0.99253	0.591000	0.81541	CCT		0.383	MPLKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250729.3	NM_138701		T	40172756	G	T	40172756	3	4	163	1	0	0	0	0	1	0	0	0	2379	1174	41	4	101	4	C7orf11	7	40172756	Missense_Mutation	SNP	G	TCGA-B0-4846-01A-01D-1361-10		40172756	118965907	16	9560											
TGS1	96764	hgsc.bcm.edu	37	8	56717519	56717519	+	Silent	SNP	C	C	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr8:56717519C>T	ENST00000260129.5	+	10	2544	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	689	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GTCAGTCCTTCAAGTGTGACG	0.443																																					Esophageal Squamous(34;275 823 4842 34837 48447)											0													226	180	195					8																	56717519		2203	4300	6503	SO:0001819	synonymous_variant	96764			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2067C>T	8.37:g.56717519C>T			A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Silent	SNP	ENST00000260129.5	37	CCDS34894.1																																																																																				0.443	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		T	56717519	C	T	56717519	2	4	163	1	0	0	0	0	0	0	0	1	15842	825	29	2		2	TGS1	8	56717519	Silent	SNP	C	TCGA-B0-4846-01A-01D-1361-10		56717519	89646503	17	9561											
WWP1	11059	hgsc.bcm.edu;ucsc.edu	37	8	87424056	87424056	+	Silent	SNP	T	T	C			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr8:87424056T>C	ENST00000517970.1	+	9	1321	c.1014T>C	c.(1012-1014)ccT>ccC	p.P338P	WWP1_ENST00000265428.4_Silent_p.P338P|WWP1_ENST00000349423.2_Silent_p.P120P|WWP1_ENST00000341922.2_Silent_p.P208P	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	338					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GTATGGATCCTGTACGGCAGC	0.428																																																0													64	63	63					8																	87424056		2203	4300	6503	SO:0001819	synonymous_variant	11059			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1014T>C	8.37:g.87424056T>C			O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	CCDS6242.1																																																																																				0.428	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		C	87424056	T	C	87424056	2	2	163	1	0	0	0	0	0	0	0	1	17420	1567	55	3		3	WWP1	8	87424056	Silent	SNP	T	TCGA-B0-4846-01A-01D-1361-10	30706537	87424056	58939966	18	9562											
KIAA1797	54914	hgsc.bcm.edu;ucsc.edu	37	9	20758088	20758088	+	Splice_Site	SNP	G	G	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr9:20758088G>T	ENST00000380249.1	+	8	756		c.e8-1		FOCAD_ENST00000338382.6_Splice_Site	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin							focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GTGTCTTTCAGAAATCATCCT	0.433																																																0													113	101	105					9																	20758088		2203	4300	6503	SO:0001630	splice_region_variant	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.393-1G>T	9.37:g.20758088G>T			D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Splice_Site	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608174	0.66558	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8915	0.86088	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1797	20748088	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.575000	0.74018	2.521000	0.84997	0.555000	0.69702	.		0.433	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	Intron	T	20758088	G	T	20758088	5	4	163	1	0	0	0	0	0	0	1	0	8260	956	33	4	410	4	KIAA1797	9	20758088	Splice_Site	SNP	G	TCGA-B0-4846-01A-01D-1361-10		20758088	120455343	19	9563											
IARS	3376	hgsc.bcm.edu;ucsc.edu	37	9	95050488	95050488	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr9:95050488C>T	ENST00000375643.3	-	3	462	c.196G>A	c.(196-198)Gat>Aat	p.D66N	IARS_ENST00000447699.2_Intron|IARS_ENST00000443024.2_Missense_Mutation_p.D66N|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	66					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GTAACTATATCTTTAATTGTA	0.393																																																0													108	100	103					9																	95050488		2203	4300	6503	SO:0001583	missense	3376			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.196G>A	9.37:g.95050488C>T	ENSP00000364794:p.Asp66Asn		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	36	5.930980	0.97116	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000375660;ENST00000395554	T;T;T	0.43294	0.95;0.95;0.95	6.03	6.03	0.97812	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	H	0.99949	5.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91363	0.5113	10	0.87932	D	0	-28.7695	20.1519	0.98089	0.0:1.0:0.0:0.0	.	66	P41252	SYIC_HUMAN	N	66	ENSP00000364794:D66N;ENSP00000406448:D66N;ENSP00000378922:D66N	ENSP00000364794:D66N	D	-	1	0	IARS	94090309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.765000	0.85310	2.861000	0.98227	0.655000	0.94253	GAT		0.393	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		T	95050488	C	T	95050488	3	4	163	1	0	0	0	0	1	0	0	0	7475	913	32	2	3720	2	IARS	9	95050488	Missense_Mutation	SNP	C	TCGA-B0-4846-01A-01D-1361-10	74292400	95050488	46162943	20	9564											
SUPV3L1	6832	hgsc.bcm.edu;ucsc.edu	37	10	70960220	70960220	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr10:70960220A>C	ENST00000359655.4	+	11	1543	c.1483A>C	c.(1483-1485)Aag>Cag	p.K495Q		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	495	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGTTTATTAAAGGAAATTTT	0.443																																																0													78	81	80					10																	70960220		2203	4300	6503	SO:0001583	missense	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1483A>C	10.37:g.70960220A>C	ENSP00000352678:p.Lys495Gln		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170667	0.57584	.	.	ENSG00000156502	ENST00000359655	T	0.46451	0.87	5.77	5.77	0.91146	Helicase, C-terminal (1);	0.048339	0.85682	D	0.000000	T	0.37705	0.1013	L	0.45228	1.405	0.80722	D	1	B	0.19706	0.038	B	0.21708	0.036	T	0.13656	-1.0501	10	0.21540	T	0.41	-1.5678	16.0985	0.81148	1.0:0.0:0.0:0.0	.	495	Q8IYB8	SUV3_HUMAN	Q	495	ENSP00000352678:K495Q	ENSP00000352678:K495Q	K	+	1	0	SUPV3L1	70630226	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.090000	0.94144	2.197000	0.70478	0.455000	0.32223	AAG		0.443	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		C	70960220	A	C	70960220	3	2	163	1	0	0	0	0	1	0	0	0	15407	15	1	5	1525	5	SUPV3L1	10	70960220	Missense_Mutation	SNP	A	TCGA-B0-4846-01A-01D-1361-10		70960220	64574527	21	9565											
FAR1	84188	hgsc.bcm.edu;ucsc.edu	37	11	13734516	13734516	+	Silent	SNP	A	A	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr11:13734516A>T	ENST00000354817.3	+	8	1035	c.891A>T	c.(889-891)ccA>ccT	p.P297P	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	297					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TTTGCAGACCAAGAAACATCA	0.358																																																0													207	202	204					11																	13734516		2200	4294	6494	SO:0001819	synonymous_variant	84188			AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	26222	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 1"		"male sterility domain containing 2"	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.891A>T	11.37:g.13734516A>T			D3DQW8|Q5CZA3	Silent	SNP	ENST00000354817.3	37	CCDS7813.1																																																																																				0.358	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		T	13734516	A	T	13734516	2	4	163	1	0	0	0	0	0	0	0	1	5676	117	5	5		5	FAR1	11	13734516	Silent	SNP	A	TCGA-B0-4846-01A-01D-1361-10		13734516	121272000	22	9566											
FERMT3	83706	hgsc.bcm.edu;ucsc.edu	37	11	63990880	63990880	+	Silent	SNP	C	C	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr11:63990880C>T	ENST00000279227.5	+	15	2015	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F	NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000540472.1_5'Flank|NUDT22_ENST00000441250.2_5'Flank|FERMT3_ENST00000345728.5_Silent_p.F636F	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	640					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTACATTTTCCTGTCGACGC	0.587																																																0													64	63	63					11																	63990880		2201	4297	6498	SO:0001819	synonymous_variant	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1920C>T	11.37:g.63990880C>T			Q8IUA1|Q8N207|Q9BT48	Silent	SNP	ENST00000279227.5	37	CCDS8060.1																																																																																				0.587	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		T	63990880	C	T	63990880	2	4	163	1	0	0	0	0	0	0	0	1	5821	854	30	2		2	FERMT3	11	63990880	Silent	SNP	C	TCGA-B0-4846-01A-01D-1361-10	50256364	63990880	71015636	23	9567											
TRIM29	23650	hgsc.bcm.edu	37	11	119996484	119996484	+	Silent	SNP	C	C	G			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr11:119996484C>G	ENST00000341846.5	-	4	1669	c.1248G>C	c.(1246-1248)ctG>ctC	p.L416L	TRIM29_ENST00000529044.1_Silent_p.L155L|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000524816.3_5'Flank|TRIM29_ENST00000541857.1_Silent_p.L149L	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	416					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATACATTGAGCAGGTCGTCCT	0.567																																																0													104	90	95					11																	119996484		2199	4295	6494	SO:0001819	synonymous_variant	23650			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1248G>C	11.37:g.119996484C>G			Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	CCDS8428.1																																																																																				0.567	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		G	119996484	C	G	119996484	2	3	163	1	0	0	0	0	0	0	0	1	16508	697	25	4		4	TRIM29	11	119996484	Silent	SNP	C	TCGA-B0-4846-01A-01D-1361-10	56005604	119996484	15010032	24	9568											
VPS26B	112936	hgsc.bcm.edu	37	11	134095128	134095128	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr11:134095128T>G	ENST00000281187.5	+	1	590	c.112T>G	c.(112-114)Ttc>Gtc	p.F38V	NCAPD3_ENST00000526422.1_5'Flank|NCAPD3_ENST00000534548.2_5'Flank|VPS26B_ENST00000525095.2_Missense_Mutation_p.F38V	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	38					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		GGAGAAATATTTCCTCTTCTA	0.577																																					Colon(171;1263 1952 15904 45703 47982)											0													103	105	104					11																	134095128		2201	4297	6498	SO:0001583	missense	112936				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.112T>G	11.37:g.134095128T>G	ENSP00000281187:p.Phe38Val		Q96A55	Missense_Mutation	SNP	ENST00000281187.5	37	CCDS8495.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974624	0.74360	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	L	0.56769	1.78	0.80722	D	1	B	0.31153	0.31	P	0.45946	0.498	T	0.62604	-0.6819	9	0.17369	T	0.5	-22.4865	14.5485	0.68050	0.0:0.0:0.0:1.0	.	38	Q4G0F5	VP26B_HUMAN	V	38	.	ENSP00000281187:F38V	F	+	1	0	VPS26B	133600338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.832000	0.86757	1.828000	0.53243	0.460000	0.39030	TTC		0.577	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		G	134095128	T	G	134095128	3	3	163	1	0	0	0	0	1	0	0	0	17203	1841	64	5	114	5	VPS26B	11	134095128	Missense_Mutation	SNP	T	TCGA-B0-4846-01A-01D-1361-10	14098644	134095128	911388	25	9569											
ADAMTS20	80070	hgsc.bcm.edu;ucsc.edu	37	12	43819454	43819454	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr12:43819454C>T	ENST00000389420.3	-	28	4146	c.4147G>A	c.(4147-4149)Gta>Ata	p.V1383I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.V1383I|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.V501I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1383	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGACATATTACAAGTCTTGAT	0.343																																																0													145	126	132					12																	43819454		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4147G>A	12.37:g.43819454C>T	ENSP00000374071:p.Val1383Ile		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403056	0.83230	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.71	4.71	0.59529	.	0.000000	0.45867	D	0.000331	T	0.76856	0.4046	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.80355	-0.1417	10	0.52906	T	0.07	.	18.5834	0.91180	0.0:1.0:0.0:0.0	.	1383;501	P59510;E9PBD5	ATS20_HUMAN;.	I	1383;513;501;1383;1383	ENSP00000374071:V1383I;ENSP00000447427:V513I;ENSP00000378911:V501I;ENSP00000448341:V1383I	ENSP00000374068:V1383I	V	-	1	0	ADAMTS20	42105721	1.000000	0.71417	0.968000	0.41197	0.819000	0.46315	7.252000	0.78309	2.546000	0.85860	0.650000	0.86243	GTA		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		T	43819454	C	T	43819454	3	4	163	1	0	0	0	0	1	0	0	0	266	478	17	2	1632	2	ADAMTS20	12	43819454	Missense_Mutation	SNP	C	TCGA-B0-4846-01A-01D-1361-10		43819454	90032441	26	9570											
KRT75	9119	hgsc.bcm.edu	37	12	52824455	52824455	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr12:52824455G>T	ENST00000252245.5	-	5	1125	c.905C>A	c.(904-906)aCa>aAa	p.T302K	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	302	Linker 12.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CACCACGGATGTGTCACCGAC	0.527																																																0													161	138	146					12																	52824455		2203	4300	6503	SO:0001583	missense	9119			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.905C>A	12.37:g.52824455G>T	ENSP00000252245:p.Thr302Lys		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382134	0.61845	.	.	ENSG00000170454	ENST00000252245	D	0.86694	-2.16	5.62	5.62	0.85841	Prefoldin (1);Filament (1);	0.000000	0.56097	D	0.000033	D	0.94948	0.8366	H	0.94698	3.57	0.54753	D	0.99998	D	0.76494	0.999	D	0.76071	0.987	D	0.95684	0.8734	10	0.87932	D	0	.	12.9223	0.58239	0.0741:0.0:0.9259:0.0	.	302	O95678	K2C75_HUMAN	K	302	ENSP00000252245:T302K	ENSP00000252245:T302K	T	-	2	0	KRT75	51110722	1.000000	0.71417	0.958000	0.39756	0.066000	0.16364	6.622000	0.74233	2.647000	0.89833	0.655000	0.94253	ACA		0.527	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		T	52824455	G	T	52824455	3	4	163	1	0	0	0	0	1	0	0	0	8490	1377	48	4	770	4	KRT75	12	52824455	Missense_Mutation	SNP	G	TCGA-B0-4846-01A-01D-1361-10	9005001	52824455	81027440	27	9571											
EXOSC8	11340	hgsc.bcm.edu;ucsc.edu	37	13	37580087	37580087	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr13:37580087C>T	ENST00000389704.3	+	6	534	c.269C>T	c.(268-270)tCa>tTa	p.S90L	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	90					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CCCCTGTGTTCATCGAGATTC	0.398																																																0													94	93	93					13																	37580087		2203	4300	6503	SO:0001583	missense	11340			AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"CBP-interacting protein 3", "Opa interacting protein 2"	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.269C>T	13.37:g.37580087C>T	ENSP00000374354:p.Ser90Leu		O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	37	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	C	35	5.476686	0.96291	.	.	ENSG00000120699	ENST00000389704	T	0.66815	-0.23	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.86531	0.5955	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87282	0.2293	10	0.52906	T	0.07	-13.5948	20.3539	0.98825	0.0:1.0:0.0:0.0	.	90	Q96B26	EXOS8_HUMAN	L	90	ENSP00000374354:S90L	ENSP00000374354:S90L	S	+	2	0	EXOSC8	36478087	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	7.433000	0.80362	2.826000	0.97356	0.655000	0.94253	TCA		0.398	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503		T	37580087	C	T	37580087	3	4	163	1	0	0	0	0	1	0	0	0	5322	838	29	2	291	2	EXOSC8	13	37580087	Missense_Mutation	SNP	C	TCGA-B0-4846-01A-01D-1361-10		37580087	77589791	28	9572											
SYNE2	23224	hgsc.bcm.edu;ucsc.edu	37	14	64493398	64493399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr14:64493398_64493399insG	ENST00000344113.4	+	42	6566_6567	c.6354_6355insG	c.(6355-6357)atcfs	p.I2119fs	SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.I2119fs|SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.I2119fs|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2119					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCCTCACTGACATCAGCAACCA	0.52																																																0																																										SO:0001589	frameshift_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	Exception_encountered	14.37:g.64493398_64493399insG	ENSP00000341781:p.Ile2119fs		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Ins	INS	ENST00000344113.4	37	CCDS41963.1																																																																																				0.52	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64493399	-	G	64493398	7	5	163	1	0	1	1	0	0	0	0	0	15451	477	17	0	6516	0	SYNE2	14	64493398	Frame_Shift_Ins	INS	-	TCGA-B0-4846-01A-01D-1361-10		64493398	42856142	29	9573											
DICER1	23405	hgsc.bcm.edu;ucsc.edu	37	14	95582928	95582928	+	Silent	SNP	A	A	G			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr14:95582928A>G	ENST00000526495.1	-	12	1905	c.1614T>C	c.(1612-1614)gaT>gaC	p.D538D	DICER1_ENST00000527414.1_Silent_p.D538D|DICER1_ENST00000541352.1_Silent_p.D538D|DICER1_ENST00000343455.3_Silent_p.D538D|DICER1_ENST00000393063.1_Silent_p.D538D			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	538	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGTGGGCAAATCAAAACGAA	0.373			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													162	173	169					14																	95582928		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1614T>C	14.37:g.95582928A>G			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	CCDS9931.1																																																																																				0.373	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			G	95582928	A	G	95582928	2	3	163	1	0	0	0	0	0	0	0	1	4523	98	4	3		3	DICER1	14	95582928	Silent	SNP	A	TCGA-B0-4846-01A-01D-1361-10	31089530	95582928	11766612	30	9574											
C15orf27	123591	hgsc.bcm.edu;ucsc.edu	37	15	76449034	76449034	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr15:76449034C>T	ENST00000388942.3	+	4	593	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	106					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTCCTGGTAGCCTGTGTAATA	0.463																																																0													138	137	137					15																	76449034		1947	4155	6102	SO:0001583	missense	123591			AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.317C>T	15.37:g.76449034C>T	ENSP00000373594:p.Ala106Val		Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804146	0.90623	.	.	ENSG00000169758	ENST00000388942	D	0.97279	-4.32	5.3	5.3	0.74995	.	0.070453	0.53938	D	0.000054	D	0.96562	0.8878	M	0.75264	2.295	0.58432	D	0.999998	P	0.39326	0.668	B	0.41374	0.355	D	0.96010	0.9001	10	0.29301	T	0.29	-17.038	17.9623	0.89089	0.0:1.0:0.0:0.0	.	106	Q2M3C6	CO027_HUMAN	V	106	ENSP00000373594:A106V	ENSP00000373594:A106V	A	+	2	0	C15orf27	74236089	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.216000	0.77974	2.490000	0.84030	0.655000	0.94253	GCC		0.463	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		T	76449034	C	T	76449034	3	4	163	1	0	0	0	0	1	0	0	0	1790	739	26	2	327	2	C15orf27	15	76449034	Missense_Mutation	SNP	C	TCGA-B0-4846-01A-01D-1361-10		76449034	26082358	31	9575											
NOMO2	283820	hgsc.bcm.edu	37	16	18522873	18522873	+	Silent	SNP	C	C	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr16:18522873C>T	ENST00000381474.3	-	27	3281	c.3216G>A	c.(3214-3216)acG>acA	p.T1072T	NOMO2_ENST00000543392.1_Silent_p.T905T|NOMO2_ENST00000330537.6_Silent_p.T1072T	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	1072						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TTACCCATAACGTAGGAAGGT	0.393																																																0													1	1	1					16																	18522873		2	1	3	SO:0001819	synonymous_variant	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.3216G>A	16.37:g.18522873C>T			Q4G177	Silent	SNP	ENST00000381474.3	37	CCDS32394.1																																																																																				0.393	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		T	18522873	C	T	18522873	2	4	163	1	0	0	0	0	0	0	0	1	10534	523	19	1		1	NOMO2	16	18522873	Silent	SNP	C	TCGA-B0-4846-01A-01D-1361-10		18522873	71831880	32	9576											
LONP2	83752	hgsc.bcm.edu;ucsc.edu	37	16	48385510	48385510	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr16:48385510A>G	ENST00000285737.4	+	15	2449	c.2356A>G	c.(2356-2358)Aaa>Gaa	p.K786E	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.K742E	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATTAAAGACAAAGTGCTGGC	0.453																																																0													57	60	59					16																	48385510		2200	4300	6500	SO:0001583	missense	83752			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2356A>G	16.37:g.48385510A>G	ENSP00000285737:p.Lys786Glu			Missense_Mutation	SNP	ENST00000285737.4	37	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	A	30	5.057851	0.93846	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.49139	0.79;0.79	5.78	5.78	0.91487	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.042329	0.85682	D	0.000000	T	0.81903	0.4921	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89462	0.3737	10	0.87932	D	0	-25.0464	16.1579	0.81677	1.0:0.0:0.0:0.0	.	742;786	B7ZKL7;Q86WA8	.;LONP2_HUMAN	E	786;515;742	ENSP00000285737:K786E;ENSP00000445426:K742E	ENSP00000285737:K786E	K	+	1	0	LONP2	46943011	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.300000	0.96151	2.220000	0.72140	0.477000	0.44152	AAA		0.453	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		G	48385510	A	G	48385510	3	3	163	1	0	0	0	0	1	0	0	0	8895	131	5	3	2414	3	LONP2	16	48385510	Missense_Mutation	SNP	A	TCGA-B0-4846-01A-01D-1361-10	29862637	48385510	41969243	33	9577											
IRX6	79190	hgsc.bcm.edu	37	16	55360271	55360271	+	Silent	SNP	C	C	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr16:55360271C>T	ENST00000290552.7	+	2	1401	c.69C>T	c.(67-69)agC>agT	p.S23S	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	23					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CAAGTTCCAGCACCACATGCT	0.642																																																0													53	51	52					16																	55360271		2198	4300	6498	SO:0001819	synonymous_variant	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.69C>T	16.37:g.55360271C>T			B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																				0.642	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		T	55360271	C	T	55360271	2	4	163	1	0	0	0	0	0	0	0	1	7850	709	25	2		2	IRX6	16	55360271	Silent	SNP	C	TCGA-B0-4846-01A-01D-1361-10	6974761	55360271	34994482	34	9578											
ADAMTS18	170692	hgsc.bcm.edu;ucsc.edu	37	16	77401389	77401389	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr16:77401389A>T	ENST00000282849.5	-	4	1145	c.727T>A	c.(727-729)Tat>Aat	p.Y243N	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	243					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGATGGTGATACTCTGTCTCT	0.488																																																0													89	83	85					16																	77401389		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.727T>A	16.37:g.77401389A>T	ENSP00000282849:p.Tyr243Asn		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.390661	0.25118	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.59083	0.29;2.85	4.57	1.02	0.19986	.	0.891438	0.09836	N	0.749521	T	0.45256	0.1333	L	0.43152	1.355	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.30149	-0.9988	10	0.27785	T	0.31	.	6.7511	0.23487	0.6061:0.0:0.3939:0.0	.	243	Q8TE60	ATS18_HUMAN	N	243	ENSP00000282849:Y243N;ENSP00000392540:Y243N	ENSP00000282849:Y243N	Y	-	1	0	ADAMTS18	75958890	0.998000	0.40836	0.003000	0.11579	0.845000	0.48019	3.536000	0.53582	0.020000	0.15106	0.454000	0.30748	TAT		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77401389	A	T	77401389	3	4	163	1	0	0	0	0	1	0	0	0	263	391	14	5	3018	5	ADAMTS18	16	77401389	Missense_Mutation	SNP	A	TCGA-B0-4846-01A-01D-1361-10	22041118	77401389	12953364	35	9579											
ABCC3	8714	hgsc.bcm.edu;ucsc.edu	37	17	48761334	48761334	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr17:48761334G>T	ENST00000285238.8	+	28	4059	c.3979G>T	c.(3979-3981)Gct>Tct	p.A1327S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1327	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCGCACTGGGGCTGGCAAGTC	0.622																																																0													49	50	50					17																	48761334		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3979G>T	17.37:g.48761334G>T	ENSP00000285238:p.Ala1327Ser		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	g	35	5.477608	0.96291	.	.	ENSG00000108846	ENST00000285238	D	0.94687	-3.49	5.38	5.38	0.77491	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.91998	0.7465	N	0.03917	-0.325	0.80722	D	1	D	0.62365	0.991	P	0.57204	0.815	D	0.94450	0.7666	10	0.87932	D	0	-11.7779	19.4929	0.95059	0.0:0.0:1.0:0.0	.	1327	O15438	MRP3_HUMAN	S	1327	ENSP00000285238:A1327S	ENSP00000285238:A1327S	A	+	1	0	ABCC3	46116333	1.000000	0.71417	0.969000	0.41365	0.976000	0.68499	9.734000	0.98822	2.672000	0.90937	0.651000	0.88453	GCT		0.622	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		T	48761334	G	T	48761334	3	4	163	1	0	0	0	0	1	0	0	0	54	1203	42	4	4173	4	ABCC3	17	48761334	Missense_Mutation	SNP	G	TCGA-B0-4846-01A-01D-1361-10		48761334	32433876	36	9580											
AKAP1	8165	hgsc.bcm.edu	37	17	55184151	55184151	+	Silent	SNP	T	T	C			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr17:55184151T>C	ENST00000337714.3	+	2	1559	c.1326T>C	c.(1324-1326)ctT>ctC	p.L442L	AKAP1_ENST00000314126.3_Silent_p.L442L|AKAP1_ENST00000572557.1_Silent_p.L442L|AKAP1_ENST00000571629.1_Silent_p.L442L|AKAP1_ENST00000539273.1_Silent_p.L442L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	442					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGAAGAGCCTTCTGTCCAGCC	0.622																																																0													90	74	79					17																	55184151		2203	4300	6503	SO:0001819	synonymous_variant	8165			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1326T>C	17.37:g.55184151T>C			A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	CCDS11594.1																																																																																				0.622	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			C	55184151	T	C	55184151	2	2	163	1	0	0	0	0	0	0	0	1	445	1770	62	3		3	AKAP1	17	55184151	Silent	SNP	T	TCGA-B0-4846-01A-01D-1361-10	6422817	55184151	26011059	37	9581											
SETBP1	26040	hgsc.bcm.edu;ucsc.edu	37	18	42281648	42281648	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr18:42281648G>T	ENST00000282030.5	+	2	633	c.337G>T	c.(337-339)Gct>Tct	p.A113S	SETBP1_ENST00000426838.4_Missense_Mutation_p.A113S	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	113						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACAAAGCGGGCTAAGAAACC	0.473									Schinzel-Giedion syndrome																																							0													80	84	83					18																	42281648		2203	4300	6503	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.337G>T	18.37:g.42281648G>T	ENSP00000282030:p.Ala113Ser		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142668	0.77888	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.70045	-0.45	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	L	0.47716	1.5	0.42866	D	0.994125	D;D	0.65815	0.994;0.995	D;D	0.68765	0.96;0.926	T	0.77247	-0.2658	10	0.49607	T	0.09	.	19.7784	0.96405	0.0:0.0:1.0:0.0	.	113;113	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	S	113	ENSP00000282030:A113S	ENSP00000282030:A113S	A	+	1	0	SETBP1	40535646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.302000	0.72788	2.658000	0.90341	0.591000	0.81541	GCT		0.473	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		T	42281648	G	T	42281648	3	4	163	1	0	0	0	0	1	0	0	0	14135	1203	42	4	339	4	SETBP1	18	42281648	Missense_Mutation	SNP	G	TCGA-B0-4846-01A-01D-1361-10		42281648	35795600	38	9582											
CPAMD8	27151	hgsc.bcm.edu	37	19	17104239	17104239	+	Missense_Mutation	SNP	T	T	C	rs151335087	byFrequency	TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr19:17104239T>C	ENST00000443236.1	-	12	1425	c.1394A>G	c.(1393-1395)cAc>cGc	p.H465R	CPAMD8_ENST00000388925.4_Missense_Mutation_p.H418R	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	418						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGCCACACGTGCTGGGCTGA	0.587													T|||	24	0.00479233	0.0008	0.0115	5008	,	,		19735	0.0		0.007	False		,,,				2504	0.0082															0								T	ARG/HIS	13,3909		0,13,1948	46	45	45		1394	1.8	0.7	19	dbSNP_134	45	122,8178		3,116,4031	yes	missense	CPAMD8	NM_015692.2	29	3,129,5979	CC,CT,TT		1.4699,0.3315,1.1046	possibly-damaging	465/1933	17104239	135,12087	1961	4150	6111	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1394A>G	19.37:g.17104239T>C	ENSP00000402505:p.His465Arg		Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	9|9	0.004120879120879121|0.004120879120879121	0|0	0.0|0.0	4|4	0.011049723756906077|0.011049723756906077	0|0	0.0|0.0	5|5	0.006596306068601583|0.006596306068601583	T|T	10.97|10.97	1.501383|1.501383	0.26861|0.26861	0.003315|0.003315	0.014699|0.014699	ENSG00000160111|ENSG00000160111	ENST00000291440;ENST00000388925|ENST00000443236	T;T|.	0.51071|.	0.72;0.74|.	2.86|2.86	1.82|1.82	0.25136|0.25136	.|.	0.203094|.	0.33670|.	N|.	0.004673|.	T|T	0.26268|0.26268	0.0641|0.0641	L|L	0.36672|0.36672	1.1|1.1	0.27826|0.27826	N|N	0.941622|0.941622	P|.	0.39665|.	0.682|.	B|.	0.34489|.	0.184|.	T|T	0.20207|0.20207	-1.0282|-1.0282	10|5	0.25106|.	T|.	0.35|.	.|.	7.5834|7.5834	0.27978|0.27978	0.0:0.108:0.0:0.892|0.0:0.108:0.0:0.892	.|.	418|.	Q8IZJ3|.	CPMD8_HUMAN|.	R|A	465;418|476	ENSP00000291440:H465R;ENSP00000373577:H418R|.	ENSP00000291440:H465R|.	H|T	-|-	2|1	0|0	CPAMD8|CPAMD8	16965239|16965239	1.000000|1.000000	0.71417|0.71417	0.727000|0.727000	0.30756|0.30756	0.980000|0.980000	0.70556|0.70556	4.878000|4.878000	0.63093|0.63093	0.184000|0.184000	0.20083|0.20083	0.533000|0.533000	0.62120|0.62120	CAC|ACG		0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		C	17104239	T	C	17104239	3	2	163	1	0	0	0	0	1	0	0	0	3797	1696	59	3	4528	3	CPAMD8	19	17104239	Missense_Mutation	SNP	T	TCGA-B0-4846-01A-01D-1361-10		17104239	42024744	39	9583											
PDE4C	5143	hgsc.bcm.edu	37	19	18327665	18327665	+	Silent	SNP	C	C	A			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr19:18327665C>A	ENST00000355502.3	-	16	2242	c.1371G>T	c.(1369-1371)ctG>ctT	p.L457L	PDE4C_ENST00000447275.3_Silent_p.L351L|PDE4C_ENST00000598111.2_Silent_p.L172L|PDE4C_ENST00000539010.1_Silent_p.L226L|PDE4C_ENST00000594617.3_Silent_p.L457L|PDE4C_ENST00000597297.1_Silent_p.L227L|PDE4C_ENST00000594465.3_Silent_p.L457L|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000262805.12_Silent_p.L425L			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	457					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GATGGTTCTCCAGCACCGAGG	0.587																																																0													93	86	88					19																	18327665		2203	4300	6503	SO:0001819	synonymous_variant	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1371G>T	19.37:g.18327665C>A			B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	CCDS12373.1																																																																																				0.587	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			A	18327665	C	A	18327665	2	1	163	1	0	0	0	0	0	0	0	1	11643	581	21	4		4	PDE4C	19	18327665	Silent	SNP	C	TCGA-B0-4846-01A-01D-1361-10	1223426	18327665	40801318	40	9584											
BFSP1	631	hgsc.bcm.edu;ucsc.edu	37	20	17475631	17475631	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr20:17475631T>A	ENST00000377873.3	-	8	1125	c.1086A>T	c.(1084-1086)agA>agT	p.R362S	BFSP1_ENST00000544874.1_Missense_Mutation_p.R223S|BFSP1_ENST00000377868.2_Missense_Mutation_p.R237S|BFSP1_ENST00000536626.1_Missense_Mutation_p.R223S	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	362	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GGGCTTTTTGTCTTGGTTTTG	0.398																																																0													126	132	130					20																	17475631		2203	4300	6503	SO:0001583	missense	631			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"Intermediate filaments type VI, eye lens intermediate filaments"	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1086A>T	20.37:g.17475631T>A	ENSP00000367104:p.Arg362Ser		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.599835	0.66332	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.94232	-3.38;0.46;0.45;0.45	5.33	3.04	0.35103	.	0.000000	0.85682	D	0.000000	D	0.95287	0.8471	M	0.75264	2.295	0.42656	D	0.993467	D;D	0.89917	0.999;1.0	D;D	0.74023	0.982;0.972	D	0.93643	0.6966	10	0.87932	D	0	-18.7643	7.1474	0.25591	0.0:0.0777:0.1477:0.7746	.	237;362	Q12934-2;Q12934	.;BFSP1_HUMAN	S	362;237;223;223	ENSP00000367104:R362S;ENSP00000367099:R237S;ENSP00000442522:R223S;ENSP00000439870:R223S	ENSP00000367099:R237S	R	-	3	2	BFSP1	17423631	0.987000	0.35691	0.975000	0.42487	0.976000	0.68499	0.109000	0.15417	0.322000	0.23283	0.533000	0.62120	AGA		0.398	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		A	17475631	T	A	17475631	3	1	163	1	0	0	0	0	1	0	0	0	1415	1664	58	5	915	5	BFSP1	20	17475631	Missense_Mutation	SNP	T	TCGA-B0-4846-01A-01D-1361-10		17475631	45549889	41	9585											
C22orf30	253143	hgsc.bcm.edu;ucsc.edu	37	22	32113207	32113207	+	Silent	SNP	C	C	G			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chr22:32113207C>G	ENST00000327423.6	-	4	807	c.618G>C	c.(616-618)ggG>ggC	p.G206G	PRR14L_ENST00000397493.2_Silent_p.G206G|PRR14L_ENST00000434485.1_Silent_p.G206G|PRR14L_ENST00000461722.1_5'UTR	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	206										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CCGTCTTAGTCCCATTGACCT	0.373																																																0													346	274	296					22																	32113207		692	1591	2283	SO:0001819	synonymous_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.618G>C	22.37:g.32113207C>G			Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Silent	SNP	ENST00000327423.6	37	CCDS13900.2																																																																																				0.373	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		G	32113207	C	G	32113207	2	3	163	1	0	0	0	0	0	0	0	1	2144	842	30	4		4	C22orf30	22	32113207	Silent	SNP	C	TCGA-B0-4846-01A-01D-1361-10		32113207	19191359	42	9586											
P2RY8	286530	hgsc.bcm.edu	37	X	1585211	1585211	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chrX:1585211A>C	ENST00000381297.4	-	2	451	c.241T>G	c.(241-243)Tac>Gac	p.Y81D	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAATGGTAGTAGATTTGGAAA	0.567			T	CRLF2	"B-ALL, Downs associated ALL"																																		Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	0													139	126	131					X																	1585211		2202	4296	6498	SO:0001583	missense	286530			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.241T>G	X.37:g.1585211A>C	ENSP00000370697:p.Tyr81Asp			Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	a	1.181	-0.638132	0.03557	.	.	ENSG00000182162	ENST00000381297	T	0.37058	1.22	2.1	0.629	0.17687	GPCR, rhodopsin-like superfamily (1);	0.678111	0.13104	U	0.413553	T	0.23210	0.0561	L	0.33137	0.985	0.09310	N	1	B	0.30973	0.302	B	0.33121	0.158	T	0.17410	-1.0370	10	0.35671	T	0.21	.	3.6011	0.08024	0.4296:0.1917:0.0:0.3787	.	81	Q86VZ1	P2RY8_HUMAN	D	81	ENSP00000370697:Y81D	ENSP00000370697:Y81D	Y	-	1	0	P2RY8	1545211	0.124000	0.22315	0.676000	0.29932	0.022000	0.10575	-0.142000	0.10311	0.528000	0.28580	0.230000	0.17803	TAC		0.567	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		C	1585211	A	C	1585211	3	2	163	1	0	0	0	0	1	0	0	0	11357	420	15	5	842	5	P2RY8	23	1585211	Missense_Mutation	SNP	A	TCGA-B0-4846-01A-01D-1361-10		1585211	153685349	43	9587											
UPF3B	65109	hgsc.bcm.edu;ucsc.edu	37	X	118974623	118974623	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chrX:118974623C>T	ENST00000276201.2	-	8	901	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Intron	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	278	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTCTGATTCACAGCTTGTAAC	0.373																																																0													144	98	114					X																	118974623		2203	4300	6503	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.832G>A	X.37:g.118974623C>T	ENSP00000276201:p.Val278Met		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820063	0.50633	.	.	ENSG00000125351	ENST00000276201	T	0.78126	-1.15	4.89	4.89	0.63831	.	0.420915	0.18866	N	0.128990	T	0.75049	0.3797	L	0.43152	1.355	0.80722	D	1	D	0.55385	0.971	P	0.47299	0.543	T	0.77464	-0.2578	10	0.59425	D	0.04	.	12.8007	0.57584	0.0:1.0:0.0:0.0	.	278	Q9BZI7	REN3B_HUMAN	M	278	ENSP00000276201:V278M	ENSP00000276201:V278M	V	-	1	0	UPF3B	118858651	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.663000	0.54518	2.168000	0.68352	0.415000	0.27848	GTG		0.373	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			T	118974623	C	T	118974623	3	4	163	1	0	0	0	0	1	0	0	0	17011	478	17	2	635	2	UPF3B	23	118974623	Missense_Mutation	SNP	C	TCGA-B0-4846-01A-01D-1361-10	117389412	118974623	36295937	44	9588											
LAMP2	3920	hgsc.bcm.edu;ucsc.edu	37	X	119581775	119581775	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4846-01A-01D-1361-10	TCGA-B0-4846-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	808ee2fa-13a3-49c1-9814-622ece3fad6a	0f9057ba-aca4-4d39-b624-9a8e1464beed	g.chrX:119581775C>A	ENST00000200639.4	-	5	798	c.662G>T	c.(661-663)gGa>gTa	p.G221V	LAMP2_ENST00000434600.2_Missense_Mutation_p.G221V|LAMP2_ENST00000538785.1_Missense_Mutation_p.G110V|LAMP2_ENST00000371335.4_Missense_Mutation_p.G221V|LAMP2_ENST00000540603.1_Missense_Mutation_p.G174V			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	221	Hinge.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGAATAGGTTCCAGCTTCTGG	0.443																																																0													273	228	243					X																	119581775		2203	4300	6503	SO:0001583	missense	3920			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.662G>T	X.37:g.119581775C>A	ENSP00000200639:p.Gly221Val		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.293192	0.80914	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.70274	-0.4917	10	0.72032	D	0.01	-14.0679	18.3507	0.90337	0.0:1.0:0.0:0.0	.	174;110;221;221;221	B4E2S7;B7Z2R9;P13473-2;P13473;Q6Q3G8	.;.;.;LAMP2_HUMAN;.	V	221;110;221;221;174	ENSP00000408411:G221V;ENSP00000440506:G110V;ENSP00000200639:G221V;ENSP00000360386:G221V;ENSP00000440479:G174V	ENSP00000200639:G221V	G	-	2	0	LAMP2	119465803	1.000000	0.71417	0.166000	0.22797	0.065000	0.16274	4.372000	0.59530	2.559000	0.86315	0.597000	0.82753	GGA		0.443	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			A	119581775	C	A	119581775	3	1	163	1	0	0	0	0	1	0	0	0	8620	855	30	4	881	4	LAMP2	23	119581775	Missense_Mutation	SNP	C	TCGA-B0-4846-01A-01D-1361-10	607152	119581775	35688785	45	9589											
LUZP1	7798	hgsc.bcm.edu;ucsc.edu	37	1	23418897	23418897	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr1:23418897A>G	ENST00000302291.4	-	4	2659	c.1858T>C	c.(1858-1860)Tca>Cca	p.S620P	LUZP1_ENST00000418342.1_Missense_Mutation_p.S620P|LUZP1_ENST00000314174.5_Missense_Mutation_p.S620P|LUZP1_ENST00000374623.3_Missense_Mutation_p.S620P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	620					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGTGAGGTTGAAAATCCCTGA	0.473																																																0													161	163	162					1																	23418897		2203	4300	6503	SO:0001583	missense	7798			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1858T>C	1.37:g.23418897A>G	ENSP00000303758:p.Ser620Pro		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357239	0.41801	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.17054	2.51;2.51;2.51;2.3	5.88	2.3	0.28687	.	0.192895	0.25848	N	0.027910	T	0.12050	0.0293	L	0.51422	1.61	0.18873	N	0.999987	B;B	0.14438	0.002;0.01	B;B	0.11329	0.006;0.006	T	0.20605	-1.0270	10	0.54805	T	0.06	.	0.4807	0.00547	0.4469:0.1476:0.1592:0.2464	.	620;620	Q86V48-2;Q86V48	.;LUZP1_HUMAN	P	620	ENSP00000393460:S620P;ENSP00000363752:S620P;ENSP00000303758:S620P;ENSP00000313705:S620P	ENSP00000303758:S620P	S	-	1	0	LUZP1	23291484	0.987000	0.35691	0.996000	0.52242	0.654000	0.38779	1.030000	0.30153	2.262000	0.75019	0.529000	0.55759	TCA		0.473	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		G	23418897	A	G	23418897	3	3	164	1	0	0	0	0	1	0	0	0	9088	246	9	3	1380	3	LUZP1	1	23418897	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10		23418897	225831724	1	9590											
HS2ST1	9653	hgsc.bcm.edu	37	1	87380814	87380814	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr1:87380814A>G	ENST00000370550.5	+	1	458	c.95A>G	c.(94-96)cAg>cGg	p.Q32R	SEP15_ENST00000401030.3_5'Flank|HS2ST1_ENST00000370551.4_Missense_Mutation_p.Q32R|SEP15_ENST00000469566.1_5'Flank|SEP15_ENST00000370554.1_5'Flank|SEP15_ENST00000331835.5_5'Flank	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	32					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AACCAGATCCAGAAACTGGAG	0.622																																																0													63	68	66					1																	87380814		2203	4300	6503	SO:0001583	missense	9653			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"Sulfotransferases, membrane-bound"	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.95A>G	1.37:g.87380814A>G	ENSP00000359581:p.Gln32Arg		D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	CCDS711.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.256694	0.59321	.	.	ENSG00000153936	ENST00000370551;ENST00000370550	.	.	.	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	L	0.27053	0.805	0.80722	D	1	D	0.54601	0.967	P	0.62382	0.901	T	0.37619	-0.9698	9	0.13853	T	0.58	-0.3694	13.3976	0.60863	1.0:0.0:0.0:0.0	.	32	Q7LGA3	HS2ST_HUMAN	R	32	.	ENSP00000359581:Q32R	Q	+	2	0	HS2ST1	87153402	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.330000	0.90019	1.838000	0.53458	0.260000	0.18958	CAG		0.622	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		G	87380814	A	G	87380814	3	3	164	1	0	0	0	0	1	0	0	0	7364	188	7	3	97	3	HS2ST1	1	87380814	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10	63961917	87380814	161869807	2	9591											
HCN3	57657	hgsc.bcm.edu;ucsc.edu	37	1	155256964	155256964	+	Splice_Site	SNP	A	A	G			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr1:155256964A>G	ENST00000368358.3	+	7	1486	c.1478A>G	c.(1477-1479)gAg>gGg	p.E493G	HCN3_ENST00000496230.1_Intron	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	493					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATTTCTGCAGAGATCTGCCTG	0.567																																																0													54	53	53					1																	155256964		2203	4300	6503	SO:0001630	splice_region_variant	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1478-1A>G	1.37:g.155256964A>G			D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.741613	0.89573	.	.	ENSG00000143630	ENST00000368358	D	0.98264	-4.83	4.75	4.75	0.60458	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.46758	D	0.000278	D	0.99402	0.9789	H	0.99273	4.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98285	1.0510	9	.	.	.	.	12.4986	0.55942	1.0:0.0:0.0:0.0	.	188;493	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	G	493	ENSP00000357342:E493G	.	E	+	2	0	HCN3	153523588	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.910000	0.92685	1.906000	0.55180	0.460000	0.39030	GAG		0.567	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897	Missense_Mutation	G	155256964	A	G	155256964	5	3	164	1	0	0	0	0	0	0	1	0	7000	318	11	3	1504	3	HCN3	1	155256964	Splice_Site	SNP	A	TCGA-B0-4847-01A-01D-1361-10	67876150	155256964	93993657	3	9592											
ACTN2	88	hgsc.bcm.edu;ucsc.edu	37	1	236912534	236912534	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr1:236912534G>T	ENST00000366578.4	+	14	1792	c.1626G>T	c.(1624-1626)atG>atT	p.M542I	ACTN2_ENST00000546208.1_Missense_Mutation_p.M36I|ACTN2_ENST00000542672.1_Missense_Mutation_p.M542I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	542					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCAAGATATGTTCATTGTCC	0.448																																																0													114	103	107					1																	236912534		2203	4300	6503	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1626G>T	1.37:g.236912534G>T	ENSP00000355537:p.Met542Ile		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688114	0.48097	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.50277	0.75;0.75;0.75	5.55	5.55	0.83447	.	0.193717	0.64402	D	0.000005	T	0.60932	0.2307	M	0.66939	2.045	0.80722	D	1	B;B;B;P	0.39071	0.203;0.011;0.172;0.658	B;B;B;P	0.51055	0.173;0.015;0.078;0.657	T	0.52328	-0.8590	10	0.15952	T	0.53	.	19.5083	0.95130	0.0:0.0:1.0:0.0	.	327;542;312;542	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	I	542;542;36;311	ENSP00000443495:M542I;ENSP00000355537:M542I;ENSP00000438384:M36I	ENSP00000355537:M542I	M	+	3	0	ACTN2	234979157	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.725000	0.74752	2.600000	0.87896	0.655000	0.94253	ATG		0.448	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		T	236912534	G	T	236912534	3	4	164	1	0	0	0	0	1	0	0	0	205	1377	48	4	1680	4	ACTN2	1	236912534	Missense_Mutation	SNP	G	TCGA-B0-4847-01A-01D-1361-10	81655570	236912534	12338087	4	9593											
WDR35	57539	hgsc.bcm.edu	37	2	20133224	20133224	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr2:20133224T>A	ENST00000345530.3	-	23	2744	c.2629A>T	c.(2629-2631)Act>Tct	p.T877S	WDR35_ENST00000281405.4_Missense_Mutation_p.T866S|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	877					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAAATGCAGTCACTGCTTGT	0.383																																																0													160	136	144					2																	20133224		2203	4300	6503	SO:0001583	missense	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2629A>T	2.37:g.20133224T>A	ENSP00000314444:p.Thr877Ser		B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	T	4.940	0.174653	0.09391	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.22134	1.97;1.97	5.29	0.152	0.14893	.	0.887914	0.10097	N	0.716483	T	0.07593	0.0191	N	0.02802	-0.49	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31888	-0.9927	10	0.40728	T	0.16	-1.0E-4	3.8587	0.08986	0.2447:0.3611:0.0:0.3942	.	866;877	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	S	877;866	ENSP00000314444:T877S;ENSP00000281405:T866S	ENSP00000281405:T866S	T	-	1	0	WDR35	19996705	0.000000	0.05858	0.158000	0.22627	0.976000	0.68499	0.101000	0.15251	0.429000	0.26202	0.460000	0.39030	ACT		0.383	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		A	20133224	T	A	20133224	3	1	164	1	0	0	0	0	1	0	0	0	17294	1667	58	5	940	5	WDR35	2	20133224	Missense_Mutation	SNP	T	TCGA-B0-4847-01A-01D-1361-10		20133224	223066149	5	9594											
PLEKHH2	130271	hgsc.bcm.edu	37	2	43991494	43991494	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr2:43991494C>A	ENST00000282406.4	+	29	4396	c.4286C>A	c.(4285-4287)gCa>gAa	p.A1429E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1429	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTGCCATGGCAAAACCCAAG	0.373																																																0													78	81	80					2																	43991494		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.4286C>A	2.37:g.43991494C>A	ENSP00000282406:p.Ala1429Glu		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455204	0.63401	.	.	ENSG00000152527	ENST00000282406	T	0.72615	-0.67	5.64	5.64	0.86602	FERM domain (1);	0.231012	0.43260	D	0.000598	T	0.69424	0.3109	L	0.46614	1.455	0.45567	D	0.998518	P	0.38455	0.632	B	0.40825	0.341	T	0.66312	-0.5955	10	0.30854	T	0.27	-25.5431	19.7009	0.96052	0.0:1.0:0.0:0.0	.	1429	Q8IVE3	PKHH2_HUMAN	E	1429	ENSP00000282406:A1429E	ENSP00000282406:A1429E	A	+	2	0	PLEKHH2	43844998	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.511000	0.53400	2.646000	0.89796	0.563000	0.77884	GCA		0.373	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		A	43991494	C	A	43991494	3	1	164	1	0	0	0	0	1	0	0	0	12079	710	25	4	4396	4	PLEKHH2	2	43991494	Missense_Mutation	SNP	C	TCGA-B0-4847-01A-01D-1361-10	23858270	43991494	199207879	6	9595											
SNRNP27	11017	hgsc.bcm.edu;ucsc.edu	37	2	70124540	70124540	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr2:70124540A>C	ENST00000244227.3	+	4	725	c.300A>C	c.(298-300)gaA>gaC	p.E100D	SNRNP27_ENST00000409116.1_Missense_Mutation_p.E100D|SNRNP27_ENST00000488986.1_3'UTR	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	100					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						CAGAGGAAGAAATAGAAATGA	0.328																																																0													108	118	115					2																	70124540		2203	4300	6503	SO:0001583	missense	11017			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"nucleic acid binding protein RY 1"					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.300A>C	2.37:g.70124540A>C	ENSP00000244227:p.Glu100Asp		Q15410	Missense_Mutation	SNP	ENST00000244227.3	37	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047488	0.75846	.	.	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.34072	1.38;1.38	5.4	4.25	0.50352	Domain of unknown function DUF1777 (1);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.60845	1.875	0.80722	D	1	D;P	0.63046	0.992;0.941	D;D	0.77004	0.989;0.973	T	0.49000	-0.8984	10	0.46703	T	0.11	.	9.3024	0.37853	0.9158:0.0:0.0842:0.0	.	100;100	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	D	100	ENSP00000244227:E100D;ENSP00000386608:E100D	ENSP00000244227:E100D	E	+	3	2	SNRNP27	69978044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.466000	0.45084	1.072000	0.40860	0.477000	0.44152	GAA		0.328	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		C	70124540	A	C	70124540	3	2	164	1	0	0	0	0	1	0	0	0	14860	11	1	5	314	5	SNRNP27	2	70124540	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10	26133046	70124540	173074833	7	9596											
BAZ2B	29994	hgsc.bcm.edu;ucsc.edu	37	2	160289486	160289486	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr2:160289486C>T	ENST00000392783.2	-	9	2177	c.1682G>A	c.(1681-1683)aGt>aAt	p.S561N	BAZ2B_ENST00000343439.5_Missense_Mutation_p.S559N|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S559N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.S561N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTCCCTTGACTATGCAGGAT	0.453																																																0													193	179	184					2																	160289486		1911	4122	6033	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1682G>A	2.37:g.160289486C>T	ENSP00000376534:p.Ser561Asn		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491194	0.26774	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.92	2.11	0.27256	.	0.199018	0.25291	U	0.031724	T	0.34890	0.0913	L	0.36672	1.1	0.21105	N	0.99978	B;B;B;B;B	0.25169	0.119;0.001;0.0;0.0;0.0	B;B;B;B;B	0.26202	0.067;0.003;0.002;0.002;0.001	T	0.21484	-1.0244	10	0.44086	T	0.13	-2.9636	8.2314	0.31601	0.0:0.6976:0.1136:0.1888	.	561;365;559;559;561	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	N	559;561;561;559;498	ENSP00000376533:S559N;ENSP00000376534:S561N;ENSP00000348087:S561N;ENSP00000339670:S559N	ENSP00000339670:S559N	S	-	2	0	BAZ2B	159997732	0.101000	0.21875	0.998000	0.56505	0.987000	0.75469	0.454000	0.21827	0.111000	0.17947	0.655000	0.94253	AGT		0.453	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			T	160289486	C	T	160289486	3	4	164	1	0	0	0	0	1	0	0	0	1332	565	20	2	4940	2	BAZ2B	2	160289486	Missense_Mutation	SNP	C	TCGA-B0-4847-01A-01D-1361-10	90164946	160289486	82909887	8	9597	78	2									
BAZ2B	29994	hgsc.bcm.edu;ucsc.edu	37	2	160289488	160289488	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr2:160289488A>T	ENST00000392783.2	-	9	2175	c.1680T>A	c.(1678-1680)caT>caA	p.H560Q	BAZ2B_ENST00000343439.5_Missense_Mutation_p.H558Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.H558Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.H560Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCCCTTGACTATGCAGGATGG	0.453																																																0													191	177	181					2																	160289488		1909	4122	6031	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1680T>A	2.37:g.160289488A>T	ENSP00000376534:p.His560Gln		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256776	0.39896	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.92	3.53	0.40419	.	0.000000	0.38217	U	0.001767	T	0.41213	0.1149	L	0.27053	0.805	0.21675	N	0.999597	D;B;B;B;B	0.62365	0.991;0.001;0.0;0.001;0.0	D;B;B;B;B	0.68943	0.961;0.003;0.001;0.003;0.001	T	0.18524	-1.0334	10	0.25106	T	0.35	-5.8967	3.5489	0.07839	0.6541:0.1403:0.0716:0.1341	.	560;364;558;558;560	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	Q	558;560;560;558;497	ENSP00000376533:H558Q;ENSP00000376534:H560Q;ENSP00000348087:H560Q;ENSP00000339670:H558Q	ENSP00000339670:H558Q	H	-	3	2	BAZ2B	159997734	0.024000	0.19004	1.000000	0.80357	0.973000	0.67179	0.500000	0.22562	0.490000	0.27771	0.533000	0.62120	CAT		0.453	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			T	160289488	A	T	160289488	3	4	164	1	0	0	0	0	1	0	0	0	1332	446	16	5	4942	5	BAZ2B	2	160289488	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10	2	160289488	82909885	9	9598	78	2									
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191572	10191572	+	Nonsense_Mutation	SNP	G	G	T	rs121913345		TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr3:10191572G>T	ENST00000256474.2	+	3	1405	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.E148*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	189					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E189K(3)|p.E189*(2)|p.E189fs*12(1)|p.E189fs*13(1)|p.E189fs*25(1)|p.Y185fs*11(1)|p.L188>?(1)|p.D187_N193del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGAAGATCTGGAAGACCACCC	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Deletion - Frameshift(4)|Substitution - Missense(3)|Substitution - Nonsense(2)|Complex(1)|Deletion - In frame(1)	kidney(11)	GRCh37	CD983007	VHL	D							77	70	72					3																	10191572		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.565G>T	3.37:g.10191572G>T	ENSP00000256474:p.Glu189*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850148	0.91277	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.97	4.97	0.65823	.	0.057481	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-3.955	16.1249	0.81386	0.0:0.0:1.0:0.0	.	.	.	.	X	189;148;107	.	ENSP00000256474:E189X	E	+	1	0	VHL	10166572	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.062000	0.76706	2.735000	0.93741	0.655000	0.94253	GAA		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191572	G	T	10191572	4	4	164	1	0	0	0	0	0	1	0	0	17167	1175	41	4	575	4	VHL	3	10191572	Nonsense_Mutation	SNP	G	TCGA-B0-4847-01A-01D-1361-10		10191572	187830858	10	9599											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52643328	52643328	+	Splice_Site	SNP	C	C	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr3:52643328C>T	ENST00000296302.7	-	16	2569		c.e16+1		PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGAAAACATACCGATTCATCC	0.318			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													49	50	50					3																	52643328		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2567+1G>A	3.37:g.52643328C>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	22.9	4.353189	0.82132	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52618368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.894000	0.99253	0.655000	0.94253	.		0.318	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	T	52643328	C	T	52643328	5	4	164	1	0	0	0	0	0	0	1	0	11493	521	18	2	2392	2	PBRM1	3	52643328	Splice_Site	SNP	C	TCGA-B0-4847-01A-01D-1361-10	42451756	52643328	145379102	11	9600											
DZIP1L	199221	hgsc.bcm.edu;ucsc.edu	37	3	137787177	137787177	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr3:137787177C>T	ENST00000327532.2	-	13	2010	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	550					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGCTGGGCCTCTCTGGTGACC	0.577											OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													68	76	73					3																	137787177		2203	4300	6503	SO:0001583	missense	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1648G>A	3.37:g.137787177C>T	ENSP00000332148:p.Glu550Lys	1636	C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174601	0.57692	.	.	ENSG00000158163	ENST00000327532	T	0.36699	1.24	4.91	3.14	0.36123	.	0.576719	0.16944	N	0.193146	T	0.39708	0.1088	L	0.56769	1.78	0.22213	N	0.999287	D	0.57257	0.979	P	0.49252	0.604	T	0.24368	-1.0162	10	0.72032	D	0.01	-15.4977	7.354	0.26709	0.0:0.8044:0.0:0.1956	.	550	Q8IYY4	DZI1L_HUMAN	K	550	ENSP00000332148:E550K	ENSP00000332148:E550K	E	-	1	0	DZIP1L	139269867	0.027000	0.19231	0.020000	0.16555	0.131000	0.20780	0.316000	0.19469	0.669000	0.31146	0.650000	0.86243	GAG		0.577	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		T	137787177	C	T	137787177	3	4	164	1	0	0	0	0	1	0	0	0	4866	922	32	2	671	2	DZIP1L	3	137787177	Missense_Mutation	SNP	C	TCGA-B0-4847-01A-01D-1361-10	85143849	137787177	60235253	12	9601											
TET2	54790	hgsc.bcm.edu;ucsc.edu	37	4	106156075	106156075	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr4:106156075A>T	ENST00000540549.1	+	3	1836	c.976A>T	c.(976-978)Aaa>Taa	p.K326*	TET2_ENST00000394764.1_Nonsense_Mutation_p.K326*|TET2_ENST00000513237.1_Nonsense_Mutation_p.K347*|TET2_ENST00000305737.2_Nonsense_Mutation_p.K326*|TET2_ENST00000413648.2_Nonsense_Mutation_p.K326*|TET2_ENST00000545826.1_Nonsense_Mutation_p.K326*|TET2_ENST00000380013.4_Nonsense_Mutation_p.K326*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	326					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACAACAACAAAAATCAGTTTT	0.428			"Mis N, F"		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													84	79	81					4																	106156075		2203	4300	6503	SO:0001587	stop_gained	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.976A>T	4.37:g.106156075A>T	ENSP00000442788:p.Lys326*		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200031	0.79015	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	.	.	.	4.98	-0.502	0.12004	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6733	0.12699	0.5169:0.314:0.169:0.0	.	.	.	.	X	326;326;326;347;326;326;326;326	.	ENSP00000265149:K326X	K	+	1	0	TET2	106375524	0.005000	0.15991	0.002000	0.10522	0.377000	0.30045	0.591000	0.23969	0.252000	0.21531	0.533000	0.62120	AAA		0.428	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		T	106156075	A	T	106156075	4	4	164	1	0	0	0	0	0	1	0	0	15775	15	1	5	978	5	TET2	4	106156075	Nonsense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10		106156075	84998201	13	9602											
SLC27A6	28965	hgsc.bcm.edu;ucsc.edu	37	5	128302059	128302059	+	Missense_Mutation	SNP	G	G	A	rs200731740		TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr5:128302059G>A	ENST00000262462.4	+	1	1239	c.229G>A	c.(229-231)Gga>Aga	p.G77R	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G77R|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G77R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	77					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CATCTATGAGGGAGACATCTA	0.478																																																0													114	109	111					5																	128302059		2203	4300	6503	SO:0001583	missense	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.229G>A	5.37:g.128302059G>A	ENSP00000262462:p.Gly77Arg		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878096	0.51801	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.52754	0.65;0.65;0.65	4.18	4.18	0.49190	.	0.051230	0.85682	D	0.000000	T	0.58032	0.2094	M	0.74258	2.255	0.58432	D	0.999997	P	0.41748	0.761	P	0.46320	0.512	T	0.65158	-0.6236	10	0.56958	D	0.05	-3.8213	17.8102	0.88613	0.0:0.0:1.0:0.0	.	77	Q9Y2P4	S27A6_HUMAN	R	77	ENSP00000262462:G77R;ENSP00000378684:G77R;ENSP00000421024:G77R	ENSP00000262462:G77R	G	+	1	0	SLC27A6	128329958	1.000000	0.71417	0.983000	0.44433	0.271000	0.26615	5.926000	0.70070	2.619000	0.88677	0.557000	0.71058	GGA		0.478	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		A	128302059	G	A	128302059	3	1	164	1	0	0	0	0	1	0	0	0	14536	1233	43	2	231	2	SLC27A6	5	128302059	Missense_Mutation	SNP	G	TCGA-B0-4847-01A-01D-1361-10		128302059	52613201	14	9603											
DSP	1832	hgsc.bcm.edu	37	6	7559606	7559606	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr6:7559606A>C	ENST00000379802.3	+	4	911	c.570A>C	c.(568-570)gaA>gaC	p.E190D	DSP_ENST00000418664.2_Missense_Mutation_p.E190D	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	190	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCACCAGTGAATGTTTGGGGT	0.572																																																0													98	90	93					6																	7559606		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.570A>C	6.37:g.7559606A>C	ENSP00000369129:p.Glu190Asp		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447342	0.25987	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	D;D	0.94576	-3.46;-3.46	5.66	-10.8	0.00216	.	0.261068	0.32987	N	0.005410	T	0.66187	0.2764	N	0.24115	0.695	0.28759	N	0.901039	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.67090	-0.5758	10	0.09084	T	0.74	.	5.6032	0.17365	0.5795:0.1704:0.1702:0.0799	.	237;190	Q4LE79;P15924	.;DESP_HUMAN	D	190	ENSP00000369129:E190D;ENSP00000396591:E190D	ENSP00000369129:E190D	E	+	3	2	DSP	7504605	0.066000	0.20996	0.469000	0.27204	0.912000	0.54170	-1.088000	0.03379	-1.947000	0.01034	-0.331000	0.08364	GAA		0.572	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		C	7559606	A	C	7559606	3	2	164	1	0	0	0	0	1	0	0	0	4783	98	4	5	584	5	DSP	6	7559606	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10		7559606	163555461	15	9604											
FAM65B	9750	hgsc.bcm.edu;ucsc.edu	37	6	24843257	24843257	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr6:24843257A>T	ENST00000259698.4	-	14	1928	c.1753T>A	c.(1753-1755)Tct>Act	p.S585T	FAM65B_ENST00000473070.1_5'UTR|AL512428.1_ENST00000583229.1_RNA|FAM65B_ENST00000378023.4_Missense_Mutation_p.S535T|FAM65B_ENST00000538035.1_Missense_Mutation_p.S564T|FAM65B_ENST00000540914.1_Missense_Mutation_p.S535T|FAM65B_ENST00000510784.2_Missense_Mutation_p.S569T	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	585					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GAACCCTCAGAGAGCAGCCTG	0.493																																																0													163	167	166					6																	24843257		1960	4165	6125	SO:0001583	missense	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1753T>A	6.37:g.24843257A>T	ENSP00000259698:p.Ser585Thr		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	A	0.771	-0.765887	0.02974	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.39	4.24	0.50183	.	0.850236	0.10802	N	0.632635	T	0.09686	0.0238	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.31625	0.332;0.082;0.163;0.163	B;B;B;B	0.35510	0.204;0.075;0.102;0.064	T	0.21759	-1.0236	10	0.11794	T	0.64	0.3556	10.6415	0.45596	0.9247:0.0:0.0753:0.0	.	569;564;535;585	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	T	585;564;535;535;569	ENSP00000259698:S585T;ENSP00000441138:S564T;ENSP00000367262:S535T;ENSP00000438425:S535T;ENSP00000441305:S569T	ENSP00000259698:S585T	S	-	1	0	FAM65B	24951236	0.031000	0.19500	0.006000	0.13384	0.082000	0.17680	3.055000	0.49916	2.032000	0.59987	0.460000	0.39030	TCT		0.493	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			T	24843257	A	T	24843257	3	4	164	1	0	0	0	0	1	0	0	0	5602	304	11	5	1503	5	FAM65B	6	24843257	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10	17283651	24843257	146271810	16	9605											
RSPH10B	222967	hgsc.bcm.edu	37	7	5984721	5984721	+	Silent	SNP	C	C	T	rs201017159	byFrequency	TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr7:5984721C>T	ENST00000405415.1	-	12	1889	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	RSPH10B_ENST00000441023.2_Silent_p.A501A|RSPH10B_ENST00000535104.1_Intron|RSPH10B_ENST00000404406.1_Silent_p.A501A|RSPH10B_ENST00000539903.1_Silent_p.A267A|RSPH10B_ENST00000337579.3_Silent_p.A501A			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	501										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		AAATGTGGTACGCCAAATGCA	0.368																																																0													3	4	4					7																	5984721		1780	3764	5544	SO:0001819	synonymous_variant	222967				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.1503G>A	7.37:g.5984721C>T			A6NMW7|Q86ST9|Q8NE68	Silent	SNP	ENST00000405415.1	37	CCDS34598.1																																																																																				0.368	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		T	5984721	C	T	5984721	2	4	164	1	0	0	0	0	0	0	0	1	13709	523	19	1		1	RSPH10B	7	5984721	Silent	SNP	C	TCGA-B0-4847-01A-01D-1361-10		5984721	153153942	17	9606											
RSPH10B	728194	hgsc.bcm.edu	37	7	6806405	6806405	+	Missense_Mutation	SNP	T	T	C	rs201147032		TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr7:6806405T>C	ENST00000403107.1	+	7	1064	c.677T>C	c.(676-678)aTa>aCa	p.I226T	RSPH10B2_ENST00000404077.1_Missense_Mutation_p.I226T|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.I226T|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.I226T|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000463354.2_3'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	226										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TCTGGAAATATATACGAAGGC	0.473																																																0																																										SO:0001583	missense	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.677T>C	7.37:g.6806405T>C	ENSP00000384766:p.Ile226Thr		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000403107.1	37	CCDS43552.1	132	0.06043956043956044	60	0.12195121951219512	10	0.027624309392265192	12	0.02097902097902098	50	0.06596306068601583	T	8.283	0.816055	0.16607	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859;ENST00000540958	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	3.55	3.55	0.40652	.	0.278846	0.33217	N	0.005148	T	0.00412	0.0013	N	0.12471	0.22	0.80722	D	1	B	0.21520	0.057	B	0.24269	0.052	T	0.02781	-1.1111	10	0.41790	T	0.15	.	10.2518	0.43372	0.0:0.0:0.0:1.0	.	226	B2RC85	R10B2_HUMAN	T	226;226;226;226;85	ENSP00000384766:I226T;ENSP00000386102:I226T;ENSP00000297186:I226T;ENSP00000416710:I226T	ENSP00000297186:I226T	I	+	2	0	RSPH10B2	6772930	0.253000	0.23982	0.974000	0.42286	0.840000	0.47671	1.481000	0.35476	1.491000	0.48482	0.310000	0.20435	ATA		0.473	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		C	6806405	T	C	6806405	3	2	164	1	0	0	0	0	1	0	0	0	13709	1406	49	3	3388	3	RSPH10B	7	6806405	Missense_Mutation	SNP	T	TCGA-B0-4847-01A-01D-1361-10	821684	6806405	152332258	18	9607											
ABCA13	154664	hgsc.bcm.edu;ucsc.edu	37	7	48556371	48556371	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr7:48556371C>T	ENST00000435803.1	+	52	13715	c.13691C>T	c.(13690-13692)tCg>tTg	p.S4564L	ABCA13_ENST00000544596.1_Missense_Mutation_p.S294L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4564					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTCCAGTTCGGACGTGGCT	0.393																																																0													286	280	282					7																	48556371		1916	4125	6041	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13691C>T	7.37:g.48556371C>T	ENSP00000411096:p.Ser4564Leu		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434536	0.62955	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87729	-2.29;-2.29;-2.29	5.35	4.47	0.54385	.	0.000000	0.42172	D	0.000744	D	0.92231	0.7536	M	0.80183	2.485	0.23519	N	0.997502	P;D;D	0.89917	0.936;0.98;1.0	B;B;D	0.65323	0.388;0.418;0.934	D	0.85959	0.1469	10	0.87932	D	0	.	11.3508	0.49587	0.0:0.916:0.0:0.084	.	294;2266;4564	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	L	4564;337;294	ENSP00000411096:S4564L;ENSP00000391042:S337L;ENSP00000442634:S294L	ENSP00000391042:S337L	S	+	2	0	ABCA13	48526917	0.051000	0.20477	0.009000	0.14445	0.708000	0.40852	3.476000	0.53143	1.227000	0.43598	0.655000	0.94253	TCG		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48556371	C	T	48556371	3	4	164	1	0	0	0	0	1	0	0	0	31	893	31	1	13726	1	ABCA13	7	48556371	Missense_Mutation	SNP	C	TCGA-B0-4847-01A-01D-1361-10	41749966	48556371	110582292	19	9608											
GRM3	2913	hgsc.bcm.edu	37	7	86416162	86416162	+	Missense_Mutation	SNP	C	C	T	rs184377536		TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr7:86416162C>T	ENST00000361669.2	+	3	2153	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	GRM3_ENST00000394720.2_Missense_Mutation_p.R350W|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.R224W|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.R352W	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	352					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R352W(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCCCTGGTTCCGGGACTTCTG	0.612																																					GBM(52;969 1098 3139 52280)											1	Substitution - Missense(1)	skin(1)											46	47	46					7																	86416162		2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1054C>T	7.37:g.86416162C>T	ENSP00000355316:p.Arg352Trp		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.0	4.088000	0.76642	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.93	4.98	0.66077	Extracellular ligand-binding receptor (1);	0.276343	0.41605	D	0.000856	D	0.93281	0.7859	M	0.87180	2.865	0.45554	D	0.9985	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.73708	0.968;0.916;0.981	D	0.93435	0.6789	10	0.72032	D	0.01	.	11.3639	0.49660	0.3424:0.6576:0.0:0.0	.	224;352;352	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	W	352;224;352;350	ENSP00000355316:R352W;ENSP00000441407:R224W;ENSP00000398767:R352W;ENSP00000378209:R350W	ENSP00000355316:R352W	R	+	1	2	GRM3	86254098	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.653000	0.67967	2.805000	0.96524	0.655000	0.94253	CGG		0.612	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			T	86416162	C	T	86416162	3	4	164	1	0	0	0	0	1	0	0	0	6800	643	23	1	1060	1	GRM3	7	86416162	Missense_Mutation	SNP	C	TCGA-B0-4847-01A-01D-1361-10	37859791	86416162	72722501	20	9609											
EFCAB1	79645	hgsc.bcm.edu;ucsc.edu	37	8	49643118	49643118	+	Silent	SNP	A	A	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr8:49643118A>T	ENST00000262103.3	-	3	380	c.300T>A	c.(298-300)tcT>tcA	p.S100S	EFCAB1_ENST00000523092.1_Silent_p.S48S|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Silent_p.S48S	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	100	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTTCTTCCAAAGATCCTCGAA	0.353																																																0													111	99	103					8																	49643118		2203	4300	6503	SO:0001819	synonymous_variant	79645				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.300T>A	8.37:g.49643118A>T			B4DSB4|E7EVN7	Silent	SNP	ENST00000262103.3	37	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	A	9.665	1.145240	0.21288	.	.	ENSG00000034239	ENST00000522254	.	.	.	4.44	1.95	0.26073	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38265	-0.9669	4	.	.	.	.	4.8758	0.13655	0.7421:0.0:0.0938:0.1641	.	.	.	.	I	18	.	.	F	-	1	0	EFCAB1	49805671	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	1.776000	0.38594	0.290000	0.22444	0.460000	0.39030	TTT		0.353	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		T	49643118	A	T	49643118	2	4	164	1	0	0	0	0	0	0	0	1	4935	59	3	5		5	EFCAB1	8	49643118	Silent	SNP	A	TCGA-B0-4847-01A-01D-1361-10		49643118	96720904	21	9610											
KCNB2	9312	hgsc.bcm.edu	37	8	73849010	73849010	+	Missense_Mutation	SNP	G	G	A	rs140088625		TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr8:73849010G>A	ENST00000523207.1	+	3	2008	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	474					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E474K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GAAGGCCGGAGAGTCCGCCAA	0.532																																																2	Substitution - Missense(2)	skin(2)											70	77	75					8																	73849010		2203	4300	6503	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1420G>A	8.37:g.73849010G>A	ENSP00000430846:p.Glu474Lys		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968467	0.53614	.	.	ENSG00000182674	ENST00000523207	T	0.30182	1.54	5.74	5.74	0.90152	.	1.435080	0.04497	N	0.380571	T	0.47875	0.1469	L	0.55990	1.75	0.58432	D	0.999997	P	0.38020	0.615	P	0.44696	0.458	T	0.31024	-0.9958	10	0.38643	T	0.18	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	474	Q92953	KCNB2_HUMAN	K	474	ENSP00000430846:E474K	ENSP00000430846:E474K	E	+	1	0	KCNB2	74011564	1.000000	0.71417	0.941000	0.38009	0.162000	0.22319	6.621000	0.74228	2.702000	0.92279	0.655000	0.94253	GAG		0.532	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		A	73849010	G	A	73849010	3	1	164	1	0	0	0	0	1	0	0	0	8015	943	33	2	1426	2	KCNB2	8	73849010	Missense_Mutation	SNP	G	TCGA-B0-4847-01A-01D-1361-10	24205892	73849010	72515012	22	9611											
SNX16	64089	hgsc.bcm.edu;ucsc.edu	37	8	82751992	82751992	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr8:82751992A>T	ENST00000345957.4	-	2	508	c.230T>A	c.(229-231)tTt>tAt	p.F77Y	SNX16_ENST00000396330.2_Missense_Mutation_p.F77Y|SNX16_ENST00000353788.4_Missense_Mutation_p.F77Y	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	77					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						TGTACCTGTAAATTTAGTCCT	0.378																																																0													124	120	121					8																	82751992		2203	4300	6503	SO:0001583	missense	64089			AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"Sorting nexins"	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.230T>A	8.37:g.82751992A>T	ENSP00000322652:p.Phe77Tyr		A8K4D8|Q658L0|Q8N4U3	Missense_Mutation	SNP	ENST00000345957.4	37	CCDS6234.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546968	0.86022	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957;ENST00000520618;ENST00000521810;ENST00000519817;ENST00000518183	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.88	5.88	0.94601	.	0.207652	0.51477	D	0.000082	T	0.52693	0.1750	M	0.70595	2.14	0.39227	D	0.963612	D;D	0.62365	0.99;0.991	P;P	0.61003	0.882;0.834	T	0.52668	-0.8545	10	0.10111	T	0.7	-26.2165	15.4799	0.75517	1.0:0.0:0.0:0.0	.	77;77	Q658L0;P57768	.;SNX16_HUMAN	Y	77	ENSP00000322631:F77Y;ENSP00000379621:F77Y;ENSP00000322652:F77Y;ENSP00000428699:F77Y;ENSP00000428734:F77Y	ENSP00000322652:F77Y	F	-	2	0	SNX16	82914547	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	7.474000	0.81024	2.257000	0.74773	0.459000	0.35465	TTT		0.378	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		T	82751992	A	T	82751992	3	4	164	1	0	0	0	0	1	0	0	0	14893	14	1	5	832	5	SNX16	8	82751992	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10	8902982	82751992	63612030	23	9612											
ADCY8	114	hgsc.bcm.edu;ucsc.edu	37	8	131848556	131848556	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr8:131848556A>T	ENST00000286355.5	-	12	4734	c.2642T>A	c.(2641-2643)tTt>tAt	p.F881Y	ADCY8_ENST00000377928.3_Missense_Mutation_p.F750Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	881			F -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATAACGCAGAAAGAGGCCTGC	0.532										HNSCC(32;0.087)																																						0													151	120	131					8																	131848556		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2642T>A	8.37:g.131848556A>T	ENSP00000286355:p.Phe881Tyr			Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038701	0.55003	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.81247	-1.47;-1.44	5.29	5.29	0.74685	.	0.058536	0.64402	D	0.000002	T	0.78084	0.4228	L	0.40543	1.245	0.34893	D	0.745707	P;B	0.46621	0.881;0.293	P;B	0.48166	0.569;0.093	T	0.81024	-0.1120	10	0.23302	T	0.38	.	14.4064	0.67086	1.0:0.0:0.0:0.0	.	750;881	E7EVL1;P40145	.;ADCY8_HUMAN	Y	881;750	ENSP00000286355:F881Y;ENSP00000367161:F750Y	ENSP00000286355:F881Y	F	-	2	0	ADCY8	131917738	1.000000	0.71417	0.999000	0.59377	0.199000	0.23934	6.901000	0.75693	2.000000	0.58554	0.459000	0.35465	TTT		0.532	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			T	131848556	A	T	131848556	3	4	164	1	0	0	0	0	1	0	0	0	300	14	1	5	1141	5	ADCY8	8	131848556	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10	49096564	131848556	14515466	24	9613											
PTPN3	5774	hgsc.bcm.edu	37	9	112151594	112151594	+	Silent	SNP	G	G	C			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr9:112151594G>C	ENST00000374541.2	-	22	2276	c.2172C>G	c.(2170-2172)acC>acG	p.T724T	PTPN3_ENST00000446349.1_Silent_p.T548T|PTPN3_ENST00000394827.3_Silent_p.T192T|PTPN3_ENST00000412145.1_Silent_p.T593T|PTPN3_ENST00000262539.3_Silent_p.T570T|PTPN3_ENST00000497739.1_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	724	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACTGTGCACAGGTATGCGGCA	0.468																																																0													86	77	80					9																	112151594		2203	4300	6503	SO:0001819	synonymous_variant	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2172C>G	9.37:g.112151594G>C			A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	CCDS6776.1																																																																																				0.468	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			C	112151594	G	C	112151594	2	2	164	1	0	0	0	0	0	0	0	1	12795	987	35	4		4	PTPN3	9	112151594	Silent	SNP	G	TCGA-B0-4847-01A-01D-1361-10		112151594	29061837	25	9614											
C5	727	hgsc.bcm.edu;ucsc.edu	37	9	123797085	123797085	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr9:123797085G>C	ENST00000223642.1	-	5	609	c.580C>G	c.(580-582)Cct>Gct	p.P194A		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	194					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	ACATACCTAGGATTAGACGGA	0.358																																																0													59	56	57					9																	123797085		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.580C>G	9.37:g.123797085G>C	ENSP00000223642:p.Pro194Ala		Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935196	0.73442	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.69306	-0.39	5.87	5.87	0.94306	Alpha-2-macroglobulin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	L	0.58925	1.835	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75789	-0.3194	10	0.36615	T	0.2	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	265;194	Q59GS8;P01031	.;CO5_HUMAN	A	194;265	ENSP00000223642:P194A	ENSP00000223642:P194A	P	-	1	0	C5	122836906	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	6.191000	0.72063	2.941000	0.99782	0.655000	0.94253	CCT		0.358	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		C	123797085	G	C	123797085	3	2	164	1	0	0	0	0	1	0	0	0	2282	1174	41	4	4598	4	C5	9	123797085	Missense_Mutation	SNP	G	TCGA-B0-4847-01A-01D-1361-10	11645491	123797085	17416346	26	9615											
KRT82	3888	hgsc.bcm.edu	37	12	52797691	52797691	+	Silent	SNP	G	G	A	rs145667835		TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr12:52797691G>A	ENST00000257974.2	-	2	491	c.414C>T	c.(412-414)gtC>gtT	p.V138V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	138	Coil 1A.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.V138V(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCAGGAAACGGACCTGCAGCC	0.542																																																1	Substitution - coding silent(1)	skin(1)											30	28	29					12																	52797691		2203	4300	6503	SO:0001819	synonymous_variant	3888			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.414C>T	12.37:g.52797691G>A				Silent	SNP	ENST00000257974.2	37	CCDS8826.1																																																																																				0.542	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		A	52797691	G	A	52797691	2	1	164	1	0	0	0	0	0	0	0	1	8498	1161	41	2		2	KRT82	12	52797691	Silent	SNP	G	TCGA-B0-4847-01A-01D-1361-10		52797691	81054204	27	9616											
LTA4H	4048	hgsc.bcm.edu	37	12	96421314	96421314	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr12:96421314A>G	ENST00000228740.2	-	3	460	c.319T>C	c.(319-321)Ttt>Ctt	p.F107L	LTA4H_ENST00000413268.2_Missense_Mutation_p.F83L|LTA4H_ENST00000552789.1_Missense_Mutation_p.F83L|RP11-256L6.2_ENST00000547346.1_RNA	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	107					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GAGGTCTCAAAAGAAATTTCT	0.348																																																0													56	59	58					12																	96421314		2203	4300	6503	SO:0001583	missense	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.319T>C	12.37:g.96421314A>G	ENSP00000228740:p.Phe107Leu		B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.579180	0.46006	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.03441	3.93;3.93;3.93	5.79	5.79	0.91817	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.305862	0.38058	N	0.001827	T	0.04182	0.0116	N	0.17474	0.49	0.50313	D	0.999863	B;B;B	0.28667	0.219;0.099;0.022	B;B;B	0.32583	0.148;0.096;0.098	T	0.52533	-0.8563	10	0.59425	D	0.04	-24.7051	16.1376	0.81497	1.0:0.0:0.0:0.0	.	83;83;107	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	L	107;83;83	ENSP00000228740:F107L;ENSP00000449958:F83L;ENSP00000395051:F83L	ENSP00000228740:F107L	F	-	1	0	LTA4H	94945445	1.000000	0.71417	0.974000	0.42286	0.021000	0.10359	6.907000	0.75724	2.212000	0.71576	0.533000	0.62120	TTT		0.348	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		G	96421314	A	G	96421314	3	3	164	1	0	0	0	0	1	0	0	0	9071	14	1	3	1584	3	LTA4H	12	96421314	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10	43623623	96421314	37430581	28	9617											
DNAH10	196385	hgsc.bcm.edu;ucsc.edu	37	12	124317763	124317763	+	Missense_Mutation	SNP	G	G	A	rs373563221		TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr12:124317763G>A	ENST00000409039.3	+	26	4319	c.4294G>A	c.(4294-4296)Gaa>Aaa	p.E1432K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1432	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1432K(1)|p.E24K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCTGTTGACGAAATTATTCA	0.433																																																2	Substitution - Missense(2)	large_intestine(2)						G	LYS/GLU	0,3868		0,0,1934	72	69	70		4294	5.8	0.1	12		70	1,8303		0,1,4151	no	missense	DNAH10	NM_207437.3	56	0,1,6085	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	1432/4472	124317763	1,12171	1934	4152	6086	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4294G>A	12.37:g.124317763G>A	ENSP00000386770:p.Glu1432Lys		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327240	0.60743	0.0	1.2E-4	ENSG00000197653	ENST00000409039	T	0.64618	-0.11	5.83	5.83	0.93111	Dynein heavy chain, domain-2 (1);	0.304390	0.30302	U	0.009923	D	0.85124	0.5625	H	0.95712	3.71	0.51482	D	0.99992	D	0.64830	0.994	P	0.62382	0.901	D	0.88730	0.3236	10	0.72032	D	0.01	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	1432	Q8IVF4	DYH10_HUMAN	K	1432	ENSP00000386770:E1432K	ENSP00000386770:E1432K	E	+	1	0	DNAH10	122883716	1.000000	0.71417	0.085000	0.20634	0.008000	0.06430	8.010000	0.88615	2.756000	0.94617	0.655000	0.94253	GAA		0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124317763	G	A	124317763	3	1	164	1	0	0	0	0	1	0	0	0	4600	1059	37	1	4396	1	DNAH10	12	124317763	Missense_Mutation	SNP	G	TCGA-B0-4847-01A-01D-1361-10	27896449	124317763	9534132	29	9618											
KDELC1	79070	hgsc.bcm.edu;ucsc.edu	37	13	103450921	103450921	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr13:103450921T>A	ENST00000376004.4	-	1	436	c.100A>T	c.(100-102)Ata>Tta	p.I34L	BIVM_ENST00000419638.1_5'Flank|KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000257336.1_5'Flank|BIVM_ENST00000448849.2_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	34						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGTCCCCATATTTCGCTCTTC	0.522																																																0													74	70	71					13																	103450921		2203	4300	6503	SO:0001583	missense	79070			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.100A>T	13.37:g.103450921T>A	ENSP00000365172:p.Ile34Leu		Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557743	0.65425	.	.	ENSG00000134901	ENST00000376004	T	0.22134	1.97	5.32	-5.5	0.02576	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.507646	0.23243	N	0.050323	T	0.10852	0.0265	N	0.19112	0.55	0.20074	N	0.999936	B	0.02656	0.0	B	0.06405	0.002	T	0.16958	-1.0385	10	0.52906	T	0.07	.	11.7162	0.51655	0.0:0.5733:0.1138:0.3129	.	34	Q6UW63	KDEL1_HUMAN	L	34	ENSP00000365172:I34L	ENSP00000365172:I34L	I	-	1	0	KDELC1	102248922	0.099000	0.21834	0.946000	0.38457	0.998000	0.95712	0.071000	0.14594	-0.742000	0.04790	0.528000	0.53228	ATA		0.522	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			A	103450921	T	A	103450921	3	1	164	1	0	0	0	0	1	0	0	0	8119	1493	52	5	1448	5	KDELC1	13	103450921	Missense_Mutation	SNP	T	TCGA-B0-4847-01A-01D-1361-10		103450921	11718957	30	9619											
OR10G3	26533	hgsc.bcm.edu	37	14	22038056	22038056	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr14:22038056C>T	ENST00000303532.1	-	1	819	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GGGACTAGGGCAGCTGCCCCA	0.567																																																0													74	78	76					14																	22038056		2203	4300	6503	SO:0001583	missense	26533				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.820G>A	14.37:g.22038056C>T	ENSP00000302437:p.Ala274Thr		Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870642	0.51588	.	.	ENSG00000169208	ENST00000303532	T	0.37752	1.18	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000501	T	0.43545	0.1252	L	0.29908	0.895	0.37615	D	0.921092	D	0.71674	0.998	D	0.67382	0.951	T	0.43097	-0.9412	10	0.42905	T	0.14	-9.6368	10.922	0.47169	0.1877:0.8123:0.0:0.0	.	274	Q8NGC4	O10G3_HUMAN	T	274	ENSP00000302437:A274T	ENSP00000302437:A274T	A	-	1	0	OR10G3	21107896	0.211000	0.23529	1.000000	0.80357	0.401000	0.30781	0.838000	0.27572	2.376000	0.81061	0.305000	0.20034	GCC		0.567	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			T	22038056	C	T	22038056	3	4	164	1	0	0	0	0	1	0	0	0	10902	710	25	2	124	2	OR10G3	14	22038056	Missense_Mutation	SNP	C	TCGA-B0-4847-01A-01D-1361-10		22038056	85311484	31	9620											
AHNAK2	113146	hgsc.bcm.edu	37	14	105408995	105408995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr14:105408995C>A	ENST00000333244.5	-	7	12912	c.12793G>T	c.(12793-12795)Gag>Tag	p.E4265*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4265						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCCACCTCCATGCTGGGC	0.637																																																0													130	144	139					14																	105408995		1953	4142	6095	SO:0001587	stop_gained	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12793G>T	14.37:g.105408995C>A	ENSP00000353114:p.Glu4265*		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	53	21.266554	0.99939	.	.	ENSG00000185567	ENST00000333244	.	.	.	3.82	1.47	0.22746	.	0.203934	0.22669	U	0.057097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-22.1568	9.8674	0.41152	0.0:0.7902:0.0:0.2098	.	.	.	.	X	4265	.	ENSP00000353114:E4265X	E	-	1	0	AHNAK2	104480040	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.072000	0.11486	0.582000	0.29556	0.313000	0.20887	GAG		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105408995	C	A	105408995	4	1	164	1	0	0	0	0	0	1	0	0	415	864	30	4	4598	4	AHNAK2	14	105408995	Nonsense_Mutation	SNP	C	TCGA-B0-4847-01A-01D-1361-10	83370939	105408995	1940545	32	9621											
GOLGA6A	342096	hgsc.bcm.edu	37	15	74370974	74370974	+	Silent	SNP	T	T	C			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr15:74370974T>C	ENST00000290438.3	-	3	301	c.261A>G	c.(259-261)caA>caG	p.Q87Q		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	87						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TTTCATTGAGTTGACTGATTG	0.512																																																0													1	1	1					15																	74370974		1	2	3	SO:0001819	synonymous_variant	342096			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.261A>G	15.37:g.74370974T>C			A8K959|Q9NYA7	Silent	SNP	ENST00000290438.3	37	CCDS32290.1																																																																																				0.512	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		C	74370974	T	C	74370974	2	2	164	1	0	0	0	0	0	0	0	1	6559	1722	60	3		3	GOLGA6A	15	74370974	Silent	SNP	T	TCGA-B0-4847-01A-01D-1361-10		74370974	28160418	33	9622											
RASGRF1	5923	hgsc.bcm.edu;ucsc.edu	37	15	79356835	79356835	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr15:79356835G>T	ENST00000419573.3	-	2	584	c.310C>A	c.(310-312)Cag>Aag	p.Q104K	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q104K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	104	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGGCTTTCTGGTTCTCATGG	0.502																																																0													303	247	266					15																	79356835		2196	4293	6489	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.310C>A	15.37:g.79356835G>T	ENSP00000405963:p.Gln104Lys		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722041	0.89298	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.39997	1.05	4.95	4.95	0.65309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.144057	0.48767	D	0.000170	T	0.62816	0.2459	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.998;0.997	D;D;D;D	0.75484	0.953;0.986;0.986;0.977	T	0.66089	-0.6010	10	0.87932	D	0	.	15.7119	0.77635	0.0:0.0:1.0:0.0	.	104;104;104;104	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	K	104	ENSP00000405963:Q104K	ENSP00000378224:Q104K	Q	-	1	0	RASGRF1	77143890	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.865000	0.92300	2.564000	0.86499	0.561000	0.74099	CAG		0.502	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		T	79356835	G	T	79356835	3	4	164	1	0	0	0	0	1	0	0	0	13078	1357	47	4	3619	4	RASGRF1	15	79356835	Missense_Mutation	SNP	G	TCGA-B0-4847-01A-01D-1361-10	4985861	79356835	23174557	34	9623											
ABCC6	368	hgsc.bcm.edu	37	16	16282704	16282704	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr16:16282704A>G	ENST00000205557.7	-	13	1792	c.1763T>C	c.(1762-1764)aTc>aCc	p.I588T	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	588	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GAGGGAGTGGATGGAGAAGGG	0.577																																																0													70	62	64					16																	16282704		2196	4300	6496	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1763T>C	16.37:g.16282704A>G	ENSP00000205557:p.Ile588Thr		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.471188	0.43942	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.91464	-2.85;-2.85	5.47	3.19	0.36642	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.734910	0.11062	U	0.603857	D	0.91985	0.7461	M	0.79343	2.45	0.80722	D	1	P;P	0.44429	0.835;0.736	P;B	0.48400	0.576;0.221	D	0.87707	0.2564	10	0.66056	D	0.02	.	8.3586	0.32346	0.8345:0.0:0.1655:0.0	.	600;588	F5GWQ0;O95255	.;MRP6_HUMAN	T	588;588;600	ENSP00000205557:I588T;ENSP00000405002:I588T	ENSP00000205557:I588T	I	-	2	0	ABCC6	16190205	1.000000	0.71417	0.855000	0.33649	0.841000	0.47740	4.626000	0.61269	0.362000	0.24319	0.533000	0.62120	ATC		0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			G	16282704	A	G	16282704	3	3	164	1	0	0	0	0	1	0	0	0	57	333	12	3	2824	3	ABCC6	16	16282704	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10		16282704	74072049	35	9624											
COG7	91949	hgsc.bcm.edu;ucsc.edu	37	16	23409386	23409386	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr16:23409386G>T	ENST00000307149.5	-	14	2053	c.1868C>A	c.(1867-1869)cCt>cAt	p.P623H		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	623					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTACTCGAGAGGGGTGAGACT	0.502																																																0													169	134	146					16																	23409386		2197	4300	6497	SO:0001583	missense	91949			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1868C>A	16.37:g.23409386G>T	ENSP00000305442:p.Pro623His		Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766814	0.90020	.	.	ENSG00000168434	ENST00000307149	T	0.75938	-0.98	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86778	0.1977	10	0.87932	D	0	-26.5482	16.7811	0.85563	0.0:0.0:1.0:0.0	.	623	P83436	COG7_HUMAN	H	623	ENSP00000305442:P623H	ENSP00000305442:P623H	P	-	2	0	COG7	23316887	1.000000	0.71417	0.747000	0.31113	0.943000	0.58893	9.341000	0.97041	2.636000	0.89361	0.655000	0.94253	CCT		0.502	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			T	23409386	G	T	23409386	3	4	164	1	0	0	0	0	1	0	0	0	3665	1000	35	4	460	4	COG7	16	23409386	Missense_Mutation	SNP	G	TCGA-B0-4847-01A-01D-1361-10	7126682	23409386	66945367	36	9625											
PALB2	79728	hgsc.bcm.edu;ucsc.edu	37	16	23634440	23634440	+	Missense_Mutation	SNP	C	C	G	rs587778588		TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr16:23634440C>G	ENST00000261584.4	-	9	2998	c.2846G>C	c.(2845-2847)tGt>tCt	p.C949S	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	949	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ATCAGAGGAACAAAACAATGC	0.363			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0													56	51	53					16																	23634440		2197	4300	6497	SO:0001583	missense	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2846G>C	16.37:g.23634440C>G	ENSP00000261584:p.Cys949Ser		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	9.361	1.067898	0.20067	.	.	ENSG00000083093	ENST00000261584	T	0.39406	1.08	5.93	0.156	0.14910	WD40 repeat-like-containing domain (1);	0.305729	0.36134	N	0.002767	T	0.31199	0.0789	L	0.59436	1.845	0.22226	N	0.999272	B	0.32507	0.373	B	0.31812	0.136	T	0.12630	-1.0540	10	0.34782	T	0.22	0.1867	4.3792	0.11286	0.0:0.444:0.1615:0.3945	.	949	Q86YC2	PALB2_HUMAN	S	949	ENSP00000261584:C949S	ENSP00000261584:C949S	C	-	2	0	PALB2	23541941	0.977000	0.34250	0.149000	0.22428	0.203000	0.24098	0.039000	0.13884	0.020000	0.15106	0.555000	0.69702	TGT		0.363	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		G	23634440	C	G	23634440	3	3	164	1	0	0	0	0	1	0	0	0	11408	478	17	4	734	4	PALB2	16	23634440	Missense_Mutation	SNP	C	TCGA-B0-4847-01A-01D-1361-10	225054	23634440	66720313	37	9626											
MBTD1	54799	hgsc.bcm.edu;ucsc.edu	37	17	49281222	49281222	+	Silent	SNP	A	A	G			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr17:49281222A>G	ENST00000586178.1	-	8	1012	c.669T>C	c.(667-669)aaT>aaC	p.N223N	MBTD1_ENST00000415868.1_Silent_p.N223N|MBTD1_ENST00000376381.2_Silent_p.N223N	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	223					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AACCACATATATTGCACCAGA	0.383																																																0													162	162	162					17																	49281222		2203	4300	6503	SO:0001819	synonymous_variant	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.669T>C	17.37:g.49281222A>G			Q6ZVU7|Q9NXU1	Silent	SNP	ENST00000586178.1	37	CCDS11581.2																																																																																				0.383	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			G	49281222	A	G	49281222	2	3	164	1	0	0	0	0	0	0	0	1	9362	446	16	3		3	MBTD1	17	49281222	Silent	SNP	A	TCGA-B0-4847-01A-01D-1361-10		49281222	31913988	38	9627											
BZRAP1	9256	hgsc.bcm.edu	37	17	56386671	56386672	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr17:56386671_56386672insG	ENST00000343736.4	-	22	4124_4125	c.3961_3962insC	c.(3961-3963)ctcfs	p.L1321fs	BZRAP1_ENST00000268893.6_Frame_Shift_Ins_p.L1261fs|BZRAP1_ENST00000355701.3_Frame_Shift_Ins_p.L1321fs			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1321						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAACTGCTGGAGGGGCAGCTCC	0.584																																																0																																										SO:0001589	frameshift_variant	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3962dupC	17.37:g.56386675_56386675dupG	ENSP00000345824:p.Leu1321fs		O75111|Q8N5W3	Frame_Shift_Ins	INS	ENST00000343736.4	37	CCDS11605.1																																																																																				0.584	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		G	56386672	-	G	56386671	7	5	164	1	0	1	1	0	0	0	0	0	1579	304	11	0	1651	0	BZRAP1	17	56386671	Frame_Shift_Ins	INS	-	TCGA-B0-4847-01A-01D-1361-10	7105449	56386671	24808539	39	9628											
EIF3G	8666	hgsc.bcm.edu;ucsc.edu	37	19	10229837	10229837	+	Silent	SNP	G	G	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr19:10229837G>T	ENST00000253108.4	-	3	120	c.78C>A	c.(76-78)gtC>gtA	p.V26V	EIF3G_ENST00000587168.1_5'UTR	NM_003755.3	NP_003746.2			eukaryotic translation initiation factor 3, subunit G											central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GCTCGCTGGTGACACATTTGT	0.617																																					Colon(124;1100 1638 3822 4510 4876)											0													29	26	27					19																	10229837		2201	4300	6501	SO:0001819	synonymous_variant	8666			U96074	CCDS12227.1	19p13.2	2013-02-12	2007-07-27	2007-07-27		ENSG00000130811		"RNA binding motif (RRM) containing"	3274	protein-coding gene	gene with protein product		603913	"eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa"	EIF3S4		9822659	Standard	NM_003755		Approved	eIF3-delta, eIF3-p44, eIF3g	uc002mnd.3	O75821		ENST00000253108.4:c.78C>A	19.37:g.10229837G>T				Silent	SNP	ENST00000253108.4	37	CCDS12227.1																																																																																				0.617	EIF3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451144.1			T	10229837	G	T	10229837	2	4	164	1	0	0	0	0	0	0	0	1	5019	1277	45	4		4	EIF3G	19	10229837	Silent	SNP	G	TCGA-B0-4847-01A-01D-1361-10		10229837	48899146	40	9629											
CNOT3	4849	hgsc.bcm.edu	37	19	54649542	54649542	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr19:54649542T>A	ENST00000406403.1	+	7	2295	c.692T>A	c.(691-693)cTc>cAc	p.L231H	CNOT3_ENST00000358389.3_Missense_Mutation_p.L50H|CNOT3_ENST00000221232.5_Missense_Mutation_p.L231H			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	231					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GACCTGGACCTCGAGGACATT	0.577																																																0													98	86	90					19																	54649542		2203	4300	6503	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.692T>A	19.37:g.54649542T>A	ENSP00000383954:p.Leu231His		Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.0|25.0	4.594981|4.594981	0.86953|0.86953	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000440571	T;T;T|.	0.63744|.	0.17;-0.06;0.17|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Not CCR4-Not complex component, N-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.79975|0.79975	0.4539|0.4539	M|M	0.88842|0.88842	2.985|2.985	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79784|.	0.993;0.989;0.993|.	D|D	0.83531|0.83531	0.0091|0.0091	10|5	0.87932|.	D|.	0|.	-28.751|-28.751	14.3342|14.3342	0.66578|0.66578	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	231;231;155|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	H|T	231;50;231|153	ENSP00000221232:L231H;ENSP00000351159:L50H;ENSP00000383954:L231H|.	ENSP00000221232:L231H|.	L|S	+|+	2|1	0|0	CNOT3|CNOT3	59341354|59341354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.801000|7.801000	0.85960|0.85960	2.102000|2.102000	0.63906|0.63906	0.533000|0.533000	0.62120|0.62120	CTC|TCG		0.577	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		A	54649542	T	A	54649542	3	1	164	1	0	0	0	0	1	0	0	0	3622	1551	54	5	718	5	CNOT3	19	54649542	Missense_Mutation	SNP	T	TCGA-B0-4847-01A-01D-1361-10	44419705	54649542	4479441	41	9630											
PANK2	80025	hgsc.bcm.edu;ucsc.edu	37	20	3891254	3891254	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr20:3891254G>A	ENST00000316562.4	+	3	1018	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PANK2_ENST00000610179.1_Missense_Mutation_p.E215K|PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000497424.1_Missense_Mutation_p.E47K	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	338					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAAACTGGATGAACTAGATTG	0.348																																																0													121	121	121					20																	3891254		2203	4300	6503	SO:0001583	missense	80025			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1012G>A	20.37:g.3891254G>A	ENSP00000313377:p.Glu338Lys		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	G	34	5.367201	0.95900	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.99488	-6.0;-6.0	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97556	1.0095	10	0.87932	D	0	.	15.622	0.76813	0.0:0.0:1.0:0.0	.	338	Q9BZ23	PANK2_HUMAN	K	47;338;154	ENSP00000417609:E47K;ENSP00000313377:E338K	ENSP00000313377:E338K	E	+	1	0	PANK2	3839254	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.563000	0.98148	2.555000	0.86185	0.591000	0.81541	GAA		0.348	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		A	3891254	G	A	3891254	3	1	164	1	0	0	0	0	1	0	0	0	11419	1291	45	2	1022	2	PANK2	20	3891254	Missense_Mutation	SNP	G	TCGA-B0-4847-01A-01D-1361-10		3891254	59134266	42	9631											
MYH7B	26133	hgsc.bcm.edu	37	20	33587603	33587603	+	IGR	SNP	G	G	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr20:33587603G>T	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Nonsense_Mutation_p.E1601*			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGGGCCCTGGAGCTGGAGGA	0.652																																																0													41	48	46					20																	33587603		1930	4130	6060	SO:0001628	intergenic_variant	57644			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33587603G>T			E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Nonsense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	44	10.681059	0.99449	.	.	ENSG00000078814	ENST00000262873	.	.	.	4.57	4.57	0.56435	.	0.000000	0.35179	N	0.003391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6036	0.88032	0.0:0.0:1.0:0.0	.	.	.	.	X	1601	.	ENSP00000262873:E1601X	E	+	1	0	MYH7B	33051264	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.597000	0.98273	2.381000	0.81170	0.558000	0.71614	GAG		0.652	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		T	33587603	G	T	33587603	1	4	164	0	1	0	0	0	0	0	0	0	10042	1175	41	4		4	MYH7B	20	33587603	IGR	SNP	G	TCGA-B0-4847-01A-01D-1361-10	29696349	33587603	29437917	43	9632											
ADAMTS1	9510	hgsc.bcm.edu;ucsc.edu	37	21	28214876	28214876	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chr21:28214876A>T	ENST00000284984.3	-	2	1313	c.859T>A	c.(859-861)Tcg>Acg	p.S287T		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	287	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCTGCCACCGAAAACAACGTG	0.512																																																0													93	78	83					21																	28214876		2203	4300	6503	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.859T>A	21.37:g.28214876A>T	ENSP00000284984:p.Ser287Thr		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.785959|4.785959	0.90282|0.90282	.|.	.|.	ENSG00000154734|ENSG00000154734	ENST00000451462|ENST00000284984;ENST00000517777;ENST00000517452	T|D;D;D	0.61627|0.87103	0.09|-2.21;-2.21;-2.21	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.|.	.|.	.|.	.|.	D|D	0.93265|0.93265	0.7854|0.7854	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|P	.|0.43094	.|0.799	.|D	.|0.64877	.|0.93	D|D	0.93827|0.93827	0.7124|0.7124	7|9	0.46703|0.72032	T|D	0.11|0.01	.|.	15.5408|15.5408	0.76043|0.76043	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|287	.|Q9UHI8	.|ATS1_HUMAN	L|T	68|287;25;49	ENSP00000403404:F68L|ENSP00000284984:S287T;ENSP00000429557:S25T;ENSP00000431065:S49T	ENSP00000403404:F68L|ENSP00000284984:S287T	F|S	-|-	3|1	2|0	ADAMTS1|ADAMTS1	27136747|27136747	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	5.548000|5.548000	0.67255|0.67255	2.252000|2.252000	0.74401|0.74401	0.533000|0.533000	0.62120|0.62120	TTT|TCG		0.512	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			T	28214876	A	T	28214876	3	4	164	1	0	0	0	0	1	0	0	0	255	246	9	5	2076	5	ADAMTS1	21	28214876	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10		28214876	19915019	44	9633											
BCOR	54880	hgsc.bcm.edu	37	X	39911578	39911578	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4847-01A-01D-1361-10	TCGA-B0-4847-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfeaf113-e264-4df2-8e4f-cde34b625cad	a43f6665-39f0-460f-8b5d-2672f6adc253	g.chrX:39911578A>C	ENST00000378444.4	-	15	5280	c.5052T>G	c.(5050-5052)ttT>ttG	p.F1684L	BCOR_ENST00000378455.4_Missense_Mutation_p.F1632L|BCOR_ENST00000397354.3_Missense_Mutation_p.F1650L|BCOR_ENST00000378463.1_Missense_Mutation_p.F527L|BCOR_ENST00000342274.4_Missense_Mutation_p.F1650L	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1684	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCACGTTTGGAAAATTGCAGC	0.438			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													52	50	50					X																	39911578		2202	4300	6502	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5052T>G	X.37:g.39911578A>C	ENSP00000367705:p.Phe1684Leu		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077194	0.55753	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274	T;T;T;T;T;T	0.73897	-0.79;0.54;0.74;0.72;0.65;0.72	5.5	0.959	0.19624	.	.	.	.	.	T	0.74741	0.3756	L	0.61218	1.895	0.42929	D	0.994315	P;B;P	0.41673	0.759;0.214;0.759	P;B;P	0.47251	0.542;0.123;0.542	T	0.74917	-0.3501	9	0.72032	D	0.01	-15.6225	10.5775	0.45235	0.2407:0.0:0.7593:0.0	.	1632;1684;1650	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	L	554;527;1632;1650;1684;1650	ENSP00000408006:F554L;ENSP00000367724:F527L;ENSP00000367716:F1632L;ENSP00000380512:F1650L;ENSP00000367705:F1684L;ENSP00000345923:F1650L	ENSP00000345923:F1650L	F	-	3	2	BCOR	39796522	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	4.173000	0.58249	0.305000	0.22832	0.481000	0.45027	TTT		0.438	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		C	39911578	A	C	39911578	3	2	164	1	0	0	0	0	1	0	0	0	1386	243	9	5	219	5	BCOR	23	39911578	Missense_Mutation	SNP	A	TCGA-B0-4847-01A-01D-1361-10		39911578	115358982	45	9634											
MLL2	8085	hgsc.bcm.edu	37	12	49448367	49448367	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4848-01A-01W-1359-10	TCGA-B0-4848-11A-01W-1359-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	e1f8ad3f-9bbd-48b1-83bf-13972f408470	d898b6cb-2bd5-4507-ba0a-673510b19be3	g.chr12:49448367A>T	ENST00000301067.7	-	3	343	c.344T>A	c.(343-345)cTa>cAa	p.L115Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	115					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AATCTGTGATAGGTCCTCACT	0.597																																																0													24	28	27					12																	49448367		1937	4134	6071	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.344T>A	12.37:g.49448367A>T	ENSP00000301067:p.Leu115Gln		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.150455	0.37923	.	.	ENSG00000167548	ENST00000301067;ENST00000547610	D	0.85411	-1.98	4.9	2.44	0.29823	.	.	.	.	.	T	0.76485	0.3994	N	0.24115	0.695	0.22982	N	0.998472	P	0.36733	0.567	B	0.39840	0.311	T	0.66148	-0.5996	9	0.87932	D	0	.	7.4821	0.27411	0.747:0.0:0.253:0.0	.	115	O14686	MLL2_HUMAN	Q	115	ENSP00000301067:L115Q	ENSP00000301067:L115Q	L	-	2	0	MLL2	47734634	1.000000	0.71417	0.905000	0.35620	0.982000	0.71751	3.622000	0.54217	0.199000	0.20427	0.455000	0.32223	CTA		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49448367	A	T	49448367	3	4	165	1	0	0	0	0	1	0	0	0	9623	420	15	5	16477	5	MLL2	12	49448367	Missense_Mutation	SNP	A	TCGA-B0-4848-01A-01W-1359-10		49448367	84403528	1	9635											
WDR47	22911	hgsc.bcm.edu	37	1	109553950	109553950	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr1:109553950A>T	ENST00000369962.3	-	5	940	c.718T>A	c.(718-720)Ttg>Atg	p.L240M	WDR47_ENST00000369965.4_Missense_Mutation_p.L240M|WDR47_ENST00000357672.3_Missense_Mutation_p.L212M|WDR47_ENST00000361054.3_Missense_Mutation_p.L212M|WDR47_ENST00000400794.3_Missense_Mutation_p.L247M			O94967	WDR47_HUMAN	WD repeat domain 47	240					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTCAGATCCAAATCATCACAA	0.378																																																0													196	198	197					1																	109553950		2203	4296	6499	SO:0001583	missense	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.718T>A	1.37:g.109553950A>T	ENSP00000358979:p.Leu240Met		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233350	0.58886	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.57595	0.39;0.43;0.39;0.39;0.39	5.46	4.33	0.51752	.	0.000000	0.64402	D	0.000002	T	0.50480	0.1618	L	0.44542	1.39	0.51482	D	0.999925	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.55927	-0.8063	10	0.59425	D	0.04	-3.3925	8.4471	0.32849	0.8491:0.0:0.1509:0.0	.	212;247;240;240	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	M	247;240;212;240;212	ENSP00000383599:L247M;ENSP00000358979:L240M;ENSP00000354339:L212M;ENSP00000358982:L240M;ENSP00000350301:L212M	ENSP00000350301:L212M	L	-	1	2	WDR47	109355473	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	5.137000	0.64789	0.890000	0.36211	0.460000	0.39030	TTG		0.378	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		T	109553950	A	T	109553950	3	4	166	1	0	0	0	0	1	0	0	0	17305	11	1	5	2088	5	WDR47	1	109553950	Missense_Mutation	SNP	A	TCGA-B0-4849-01A-01D-1361-10		109553950	139696671	1	9636											
GBA	2629	hgsc.bcm.edu	37	1	155209553	155209553	+	Splice_Site	SNP	C	C	G			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr1:155209553C>G	ENST00000327247.5	-	5	540	c.308G>C	c.(307-309)gGc>gCc	p.G103A	GBA_ENST00000428024.3_Splice_Site_p.G16A|GBA_ENST00000536770.1_Intron|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000427500.3_Intron|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Splice_Site_p.G103A	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	103					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	CAGTAGCAGGCCTGAGGACAT	0.547									Gaucher disease type I																																							0													76	68	71					1																	155209553		2203	4300	6503	SO:0001630	splice_region_variant	2629	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.308-1G>C	1.37:g.155209553C>G			A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	C	3.730	-0.055723	0.07362	.	.	ENSG00000177628	ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536555;ENST00000402928	D;D;D	0.99226	-5.59;-4.5;-4.5	3.32	1.37	0.22104	Glycoside hydrolase, subgroup, catalytic domain (1);	0.080579	0.48767	D	0.000173	D	0.90741	0.7094	N	0.17082	0.46	0.31028	N	0.71775	B	0.23058	0.079	B	0.15484	0.013	D	0.85230	0.1032	10	0.08837	T	0.75	.	5.473	0.16680	0.0:0.7225:0.0:0.2775	.	103	P04062	GLCM_HUMAN	A	16;103;103;60;103	ENSP00000397986:G16A;ENSP00000357357:G103A;ENSP00000314508:G103A	ENSP00000314508:G103A	G	-	2	0	GBA	153476177	0.981000	0.34729	0.183000	0.23137	0.614000	0.37383	2.122000	0.41987	0.231000	0.21079	0.313000	0.20887	GGC		0.547	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157	Missense_Mutation	G	155209553	C	G	155209553	5	3	166	1	0	0	0	0	0	0	1	0	6268	753	26	4	1334	4	GBA	1	155209553	Splice_Site	SNP	C	TCGA-B0-4849-01A-01D-1361-10	45655603	155209553	94041068	2	9637											
F5	2153	hgsc.bcm.edu	37	1	169510437	169510437	+	Silent	SNP	T	T	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr1:169510437T>C	ENST00000367797.3	-	13	4092	c.3891A>G	c.(3889-3891)gaA>gaG	p.E1297E	F5_ENST00000367796.3_Silent_p.E1302E	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1297	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATGGCTGAGTTCTGGAGAGA	0.517																																																0													256	281	272					1																	169510437		2203	4300	6503	SO:0001819	synonymous_variant	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3891A>G	1.37:g.169510437T>C			A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																				0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169510437	T	C	169510437	2	2	166	1	0	0	0	0	0	0	0	1	5350	1722	60	3		3	F5	1	169510437	Silent	SNP	T	TCGA-B0-4849-01A-01D-1361-10	14300884	169510437	79740184	3	9638											
LAMB3	3914	hgsc.bcm.edu	37	1	209807972	209807972	+	Silent	SNP	G	G	A	rs1130667	byFrequency	TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr1:209807972G>A	ENST00000356082.4	-	6	518	c.384C>T	c.(382-384)ccC>ccT	p.P128P	LAMB3_ENST00000391911.1_Silent_p.P128P|LAMB3_ENST00000367030.3_Silent_p.P128P	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	128	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCATGCCGGCGGGCATGGGCC	0.652													G|||	1229	0.245407	0.0908	0.2421	5008	,	,		16590	0.2381		0.3887	False		,,,				2504	0.317															0								G	,,	678,3728	275.4+/-272.5	54,570,1579	32	28	30		384,384,384	-8.5	0.4	1	dbSNP_86	30	3402,5198	476.1+/-369.3	669,2064,1567	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	,,	723,2634,3146	AA,AG,GG		39.5581,15.3881,31.3701	,,	128/1173,128/1173,128/1173	209807972	4080,8926	2203	4300	6503	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.384C>T	1.37:g.209807972G>A			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	CCDS1487.1																																																																																				0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		A	209807972	G	A	209807972	2	1	166	1	0	0	0	0	0	0	0	1	8614	1103	39	1		1	LAMB3	1	209807972	Silent	SNP	G	TCGA-B0-4849-01A-01D-1361-10	40297535	209807972	39442649	4	9639											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52678735	52678735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr3:52678735G>T	ENST00000296302.7	-	8	885	c.884C>A	c.(883-885)tCa>tAa	p.S295*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S295*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.S295*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S295*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S295*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S295*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S295*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S295*			Q86U86	PB1_HUMAN	polybromo 1	295					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCGAAGACTTGACTTAGCCAT	0.383			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													114	98	103					3																	52678735		2202	4300	6502	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.884C>A	3.37:g.52678735G>T	ENSP00000296302:p.Ser295*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	37	6.487611	0.97607	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.69	5.69	0.88448	.	0.063669	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0192	17.995	0.89181	0.0:0.0:1.0:0.0	.	.	.	.	X	295;295;295;295;295;295;295;295;295;239	.	ENSP00000296302:S295X	S	-	2	0	PBRM1	52653775	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.815000	0.86186	2.683000	0.91414	0.563000	0.77884	TCA		0.383	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52678735	G	T	52678735	4	4	166	1	0	0	0	0	0	1	0	0	11493	1294	45	4	4108	4	PBRM1	3	52678735	Nonsense_Mutation	SNP	G	TCGA-B0-4849-01A-01D-1361-10		52678735	145343695	5	9640											
SLC4A4	8671	hgsc.bcm.edu;ucsc.edu	37	4	72338634	72338634	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr4:72338634T>C	ENST00000264485.5	+	14	1967	c.1850T>C	c.(1849-1851)tTc>tCc	p.F617S	SLC4A4_ENST00000512686.1_Missense_Mutation_p.F573S|SLC4A4_ENST00000425175.1_Missense_Mutation_p.F617S|SLC4A4_ENST00000351898.6_Missense_Mutation_p.F617S|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Missense_Mutation_p.F573S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	617					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AACTCCAACTTCAAAGTGGGC	0.453																																																0													136	138	137					4																	72338634		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1850T>C	4.37:g.72338634T>C	ENSP00000264485:p.Phe617Ser		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.579332	0.46006	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.44	5.44	0.79542	Bicarbonate transporter, C-terminal (1);	0.091907	0.85682	D	0.000000	T	0.80628	0.4659	L	0.31578	0.945	0.58432	D	0.999998	D;D;D;P;P;D	0.69078	0.996;0.997;0.99;0.58;0.607;0.984	D;D;D;B;P;D	0.71184	0.968;0.972;0.945;0.311;0.686;0.968	T	0.77905	-0.2413	10	0.23891	T	0.37	.	15.509	0.75766	0.0:0.0:0.0:1.0	.	617;617;573;573;597;617	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	S	617;617;617;573;573	ENSP00000264485:F617S;ENSP00000393557:F617S;ENSP00000307349:F617S;ENSP00000422400:F573S;ENSP00000344272:F573S	ENSP00000264485:F617S	F	+	2	0	SLC4A4	72557498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.915000	0.48805	2.065000	0.61736	0.533000	0.62120	TTC		0.453	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		C	72338634	T	C	72338634	3	2	166	1	0	0	0	0	1	0	0	0	14662	1783	62	3	2021	3	SLC4A4	4	72338634	Missense_Mutation	SNP	T	TCGA-B0-4849-01A-01D-1361-10		72338634	118815642	6	9641											
FAT4	79633	hgsc.bcm.edu;ucsc.edu	37	4	126373477	126373477	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr4:126373477A>C	ENST00000394329.3	+	9	11319	c.11306A>C	c.(11305-11307)aAt>aCt	p.N3769T	FAT4_ENST00000335110.5_Missense_Mutation_p.N2067T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3769					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGAAGCGAAATCATAATCAG	0.463																																																0													91	89	90					4																	126373477		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11306A>C	4.37:g.126373477A>C	ENSP00000377862:p.Asn3769Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	1.747	-0.490279	0.04322	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.45668	0.89;0.89	5.76	-2.3	0.06785	.	0.406639	0.17036	U	0.189512	T	0.15262	0.0368	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.19200	0.034;0.02;0.013	B;B;B	0.18871	0.023;0.006;0.015	T	0.27297	-1.0078	10	0.13108	T	0.6	.	13.8892	0.63729	0.2914:0.0:0.7086:0.0	.	2067;3769;3769	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	3769;2067	ENSP00000377862:N3769T;ENSP00000335169:N2067T	ENSP00000335169:N2067T	N	+	2	0	FAT4	126592927	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	0.043000	0.13971	-0.366000	0.08064	0.454000	0.30748	AAT		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		C	126373477	A	C	126373477	3	2	166	1	0	0	0	0	1	0	0	0	5694	101	4	5	11340	5	FAT4	4	126373477	Missense_Mutation	SNP	A	TCGA-B0-4849-01A-01D-1361-10	54034843	126373477	64780799	7	9642											
ASCC3	10973	hgsc.bcm.edu;ucsc.edu	37	6	101296058	101296058	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr6:101296058G>C	ENST00000369162.2	-	4	1111	c.767C>G	c.(766-768)gCt>gGt	p.A256G	ASCC3_ENST00000522650.1_Missense_Mutation_p.A256G	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	256					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTTAATAGAAGCAAGCATATC	0.299																																																0													67	69	68					6																	101296058		2203	4300	6503	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.767C>G	6.37:g.101296058G>C	ENSP00000358159:p.Ala256Gly		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401043	0.42613	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.58060	0.43;0.36	5.76	5.76	0.90799	.	0.114714	0.64402	D	0.000017	T	0.57198	0.2037	L	0.56769	1.78	0.80722	D	1	D;D;B	0.76494	0.999;0.991;0.02	P;P;B	0.62813	0.907;0.787;0.007	T	0.48422	-0.9037	10	0.11794	T	0.64	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	256;256;256	Q4G1A0;E7EW23;Q8N3C0	.;.;HELC1_HUMAN	G	256	ENSP00000358159:A256G;ENSP00000430769:A256G	ENSP00000358159:A256G	A	-	2	0	ASCC3	101402779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.303000	0.78871	2.721000	0.93114	0.591000	0.81541	GCT		0.299	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		C	101296058	G	C	101296058	3	2	166	1	0	0	0	0	1	0	0	0	1033	971	34	4	5997	4	ASCC3	6	101296058	Missense_Mutation	SNP	G	TCGA-B0-4849-01A-01D-1361-10		101296058	69819009	8	9643											
EGFR	1956	hgsc.bcm.edu	37	7	55259454	55259454	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr7:55259454C>A	ENST00000275493.2	+	21	2689	c.2512C>A	c.(2512-2514)Ctg>Atg	p.L838M	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.L793M|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L785M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> V (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L838V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCACCGCGACCTGGCAGCCAG	0.537		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	1	Substitution - Missense(1)	lung(1)											117	102	107					7																	55259454		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2512C>A	7.37:g.55259454C>A	ENSP00000275493:p.Leu838Met		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671846	0.67928	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.74421	-0.84;-0.84;-0.84	5.82	2.62	0.31277	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	H	0.96015	3.755	0.44085	D	0.996844	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87429	0.2387	10	0.87932	D	0	.	7.3005	0.26418	0.0:0.5788:0.0:0.4212	.	793;838	Q504U8;P00533	.;EGFR_HUMAN	M	793;708;838;785	ENSP00000415559:L793M;ENSP00000275493:L838M;ENSP00000395243:L785M	ENSP00000275493:L838M	L	+	1	2	EGFR	55226948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.132000	0.31418	0.779000	0.33543	0.650000	0.86243	CTG		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55259454	C	A	55259454	3	1	166	1	0	0	0	0	1	0	0	0	4969	680	24	4	2858	4	EGFR	7	55259454	Missense_Mutation	SNP	C	TCGA-B0-4849-01A-01D-1361-10		55259454	103879209	9	9644											
ZNF800	168850	hgsc.bcm.edu;ucsc.edu	37	7	127017270	127017270	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr7:127017270A>T	ENST00000393313.1	-	4	862	c.271T>A	c.(271-273)Tac>Aac	p.Y91N	ZNF800_ENST00000393312.1_Missense_Mutation_p.Y91N|ZNF800_ENST00000265827.3_Missense_Mutation_p.Y91N			Q2TB10	ZN800_HUMAN	zinc finger protein 800	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GGTGGGCAGTAGAATTTTTTA	0.318																																																0													91	101	98					7																	127017270		2203	4295	6498	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.271T>A	7.37:g.127017270A>T	ENSP00000376989:p.Tyr91Asn		Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.836786	0.91117	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602;ENST00000436992;ENST00000439506	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.52905	1.665	0.37958	D	0.932883	D	0.76494	0.999	D	0.87578	0.998	T	0.63260	-0.6677	9	0.72032	D	0.01	-6.005	15.301	0.73952	1.0:0.0:0.0:0.0	.	91	Q2TB10	ZN800_HUMAN	N	91	ENSP00000376989:Y91N;ENSP00000265827:Y91N;ENSP00000376988:Y91N;ENSP00000403945:Y91N;ENSP00000401109:Y91N;ENSP00000389776:Y91N	ENSP00000265827:Y91N	Y	-	1	0	ZNF800	126804506	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.194000	0.70268	0.533000	0.62120	TAC		0.318	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		T	127017270	A	T	127017270	3	4	166	1	0	0	0	0	1	0	0	0	18174	420	15	5	1735	5	ZNF800	7	127017270	Missense_Mutation	SNP	A	TCGA-B0-4849-01A-01D-1361-10	71757816	127017270	32121393	10	9645											
CNTNAP2	26047	hgsc.bcm.edu;ucsc.edu	37	7	147092819	147092819	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr7:147092819G>T	ENST00000361727.3	+	10	2133	c.1617G>T	c.(1615-1617)agG>agT	p.R539S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	539	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGCACAAAGGAAGCCGGGAA	0.433										HNSCC(39;0.1)																																						0													170	154	159					7																	147092819		2203	4299	6502	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1617G>T	7.37:g.147092819G>T	ENSP00000354778:p.Arg539Ser		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543792	0.45280	.	.	ENSG00000174469	ENST00000361727	T	0.76060	-0.99	5.27	0.633	0.17712	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.082655	0.48286	D	0.000192	T	0.52008	0.1708	N	0.20986	0.625	0.80722	D	1	B	0.15930	0.015	B	0.17098	0.017	T	0.24905	-1.0147	10	0.09338	T	0.73	.	7.159	0.25652	0.6795:0.0:0.3205:0.0	.	539	Q9UHC6	CNTP2_HUMAN	S	539	ENSP00000354778:R539S	ENSP00000354778:R539S	R	+	3	2	CNTNAP2	146723752	0.996000	0.38824	0.986000	0.45419	0.970000	0.65996	0.367000	0.20382	0.194000	0.20326	0.591000	0.81541	AGG		0.433	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			T	147092819	G	T	147092819	3	4	166	1	0	0	0	0	1	0	0	0	3649	1165	41	4	1655	4	CNTNAP2	7	147092819	Missense_Mutation	SNP	G	TCGA-B0-4849-01A-01D-1361-10	20075549	147092819	12045844	11	9646											
ZNF706	51123	hgsc.bcm.edu;ucsc.edu	37	8	102213933	102213933	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr8:102213933T>C	ENST00000520347.1	-	2	2993	c.37A>G	c.(37-39)Aaa>Gaa	p.K13E	ZNF706_ENST00000519744.1_Missense_Mutation_p.K13E|ZNF706_ENST00000311212.4_Missense_Mutation_p.K13E|ZNF706_ENST00000520984.1_Missense_Mutation_p.K13E|ZNF706_ENST00000519882.1_Missense_Mutation_p.K13E|ZNF706_ENST00000517844.1_Missense_Mutation_p.K13E|ZNF706_ENST00000518336.1_Missense_Mutation_p.K13E|ZNF706_ENST00000521272.1_Missense_Mutation_p.K13E			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	13							metal ion binding (GO:0046872)			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			TTGGCATTTTTCTGCTGAGAC	0.408																																																0													126	110	116					8																	102213933		2203	4300	6503	SO:0001583	missense	51123			AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.37A>G	8.37:g.102213933T>C	ENSP00000430823:p.Lys13Glu		A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258313	0.80246	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	.	.	.	0.80722	D	1	D	0.62365	0.991	D	0.66602	0.945	T	0.81850	-0.0743	8	0.87932	D	0	-7.5589	15.4421	0.75190	0.0:0.0:0.0:1.0	.	13	Q9Y5V0	ZN706_HUMAN	E	13	.	ENSP00000311768:K13E	K	-	1	0	ZNF706	102283109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.054000	0.61138	0.533000	0.62120	AAA		0.408	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1	NM_016096		C	102213933	T	C	102213933	3	2	166	1	0	0	0	0	1	0	0	0	18115	1792	62	3	201	3	ZNF706	8	102213933	Missense_Mutation	SNP	T	TCGA-B0-4849-01A-01D-1361-10		102213933	44150089	12	9647											
LRSAM1	90678	hgsc.bcm.edu;ucsc.edu	37	9	130241215	130241215	+	Silent	SNP	C	C	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr9:130241215C>T	ENST00000323301.4	+	11	1357	c.753C>T	c.(751-753)aaC>aaT	p.N251N	LRSAM1_ENST00000373324.4_Silent_p.N251N|LRSAM1_ENST00000300417.6_Silent_p.N251N|LRSAM1_ENST00000373322.1_Silent_p.N251N	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	251					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCTCCCAGAACAGGTTCTCAG	0.453																																																0													93	83	86					9																	130241215		2203	4300	6503	SO:0001819	synonymous_variant	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.753C>T	9.37:g.130241215C>T			Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	CCDS6873.1																																																																																				0.453	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		T	130241215	C	T	130241215	2	4	166	1	0	0	0	0	0	0	0	1	9045	477	17	2		2	LRSAM1	9	130241215	Silent	SNP	C	TCGA-B0-4849-01A-01D-1361-10		130241215	10972216	13	9648											
ZEB1	6935	hgsc.bcm.edu;ucsc.edu	37	10	31812969	31812969	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr10:31812969T>C	ENST00000320985.10	+	8	2820	c.2710T>C	c.(2710-2712)Tat>Cat	p.Y904H	ZEB1_ENST00000560721.2_Missense_Mutation_p.Y884H|ZEB1_ENST00000542815.3_Missense_Mutation_p.Y837H|ZEB1_ENST00000446923.2_Missense_Mutation_p.Y888H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Y905H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	904					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATGGAATGTATGCTTGTGA	0.363																																					Ovarian(40;423 959 14296 36701 49589)											0													122	121	121					10																	31812969		2203	4300	6503	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2710T>C	10.37:g.31812969T>C	ENSP00000319248:p.Tyr904His		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.817543	0.90790	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.596133	0.16045	N	0.232236	D	0.87904	0.6295	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.97110	1.0;0.994;0.999;0.994;0.994	D	0.87679	0.2546	10	0.62326	D	0.03	-15.3877	15.9942	0.80228	0.0:0.0:0.0:1.0	.	837;888;884;905;904	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	H	686;904;905;899;837;904;884;795;888	ENSP00000444282:Y686H;ENSP00000354487:Y905H;ENSP00000444891:Y837H;ENSP00000319248:Y904H;ENSP00000391612:Y888H	ENSP00000319248:Y904H	Y	+	1	0	ZEB1	31852975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.193000	0.70182	0.477000	0.44152	TAT		0.363	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		C	31812969	T	C	31812969	3	2	166	1	0	0	0	0	1	0	0	0	17628	1638	57	3	2754	3	ZEB1	10	31812969	Missense_Mutation	SNP	T	TCGA-B0-4849-01A-01D-1361-10		31812969	103721778	14	9649											
ZNF33A	7581	hgsc.bcm.edu;ucsc.edu	37	10	38343549	38343549	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr10:38343549A>T	ENST00000458705.2	+	5	652	c.494A>T	c.(493-495)aAg>aTg	p.K165M	ZNF33A_ENST00000307441.9_Missense_Mutation_p.K165M|ZNF33A_ENST00000432900.2_Missense_Mutation_p.K172M|ZNF33A_ENST00000374618.3_Missense_Mutation_p.K166M|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TTAGGAAAAAAGTCTGATGAA	0.313																																																0													60	61	61					10																	38343549		2203	4298	6501	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.494A>T	10.37:g.38343549A>T	ENSP00000387713:p.Lys165Met		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	6.245	0.413329	0.11812	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	2.26	2.26	0.28386	.	0.414645	0.17733	N	0.163811	T	0.47911	0.1471	L	0.51422	1.61	0.09310	N	1	D;B;P	0.89917	1.0;0.451;0.798	D;B;B	0.68943	0.961;0.112;0.439	T	0.19095	-1.0316	10	0.87932	D	0	.	8.0427	0.30532	1.0:0.0:0.0:0.0	.	172;165;166	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	M	166;172;165;165	ENSP00000363747:K166M;ENSP00000402467:K172M;ENSP00000387713:K165M;ENSP00000304268:K165M	ENSP00000304268:K165M	K	+	2	0	ZNF33A	38383555	0.111000	0.22076	0.640000	0.29408	0.182000	0.23217	0.459000	0.21908	1.021000	0.39600	0.377000	0.23210	AAG		0.313	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		T	38343549	A	T	38343549	3	4	166	1	0	0	0	0	1	0	0	0	17859	72	3	5	511	5	ZNF33A	10	38343549	Missense_Mutation	SNP	A	TCGA-B0-4849-01A-01D-1361-10	6530580	38343549	97191198	15	9650											
C10orf118	55088	hgsc.bcm.edu;ucsc.edu	37	10	115891000	115891000	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr10:115891000C>G	ENST00000369287.3	-	12	2273	c.2007G>C	c.(2005-2007)ttG>ttC	p.L669F	C10orf118_ENST00000543782.1_Missense_Mutation_p.L267F|C10orf118_ENST00000497592.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		669										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CCTGGGTACTCAATGCTTTAA	0.398																																																0													275	284	281					10																	115891000		2203	4300	6503	SO:0001583	missense	55088																														ENST00000369287.3:c.2007G>C	10.37:g.115891000C>G	ENSP00000358293:p.Leu669Phe		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.00|15.00	2.703724|2.703724	0.48412|0.48412	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	.|T	.|0.36340	.|1.26	5.88|5.88	2.68|2.68	0.31781|0.31781	.|.	.|0.072169	.|0.56097	.|D	.|0.000029	T|T	0.52322|0.52322	0.1727|0.1727	M|M	0.69185|0.69185	2.1|2.1	0.41927|0.41927	D|D	0.990543|0.990543	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.76575	.|0.956;0.988	T|T	0.52275|0.52275	-0.8597|-0.8597	5|10	.|0.62326	.|D	.|0.03	.|.	7.9309|7.9309	0.29901|0.29901	0.0:0.6382:0.0:0.3618|0.0:0.6382:0.0:0.3618	.|.	.|267;669	.|F6VCB7;Q7Z3E2	.|.;CJ118_HUMAN	Q|F	298|669;267;775	.|ENSP00000358293:L669F	.|ENSP00000358293:L669F	E|L	-|-	1|3	0|2	C10orf118|C10orf118	115880990|115880990	0.993000|0.993000	0.37304|0.37304	0.906000|0.906000	0.35671|0.35671	0.525000|0.525000	0.34531|0.34531	0.461000|0.461000	0.21940|0.21940	0.842000|0.842000	0.35045|0.35045	0.585000|0.585000	0.79938|0.79938	GAG|TTG		0.398	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			G	115891000	C	G	115891000	3	3	166	1	0	0	0	0	1	0	0	0	1589	825	29	4	709	4	C10orf118	10	115891000	Missense_Mutation	SNP	C	TCGA-B0-4849-01A-01D-1361-10	77547451	115891000	19643747	16	9651			1	19		2	2	84	N	C_A	6.702673e-05
C10orf118	55088	hgsc.bcm.edu;ucsc.edu	37	10	115891083	115891083	+	Silent	SNP	A	A	G			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr10:115891083A>G	ENST00000369287.3	-	12	2190	c.1924T>C	c.(1924-1926)Ttg>Ctg	p.L642L	C10orf118_ENST00000543782.1_Silent_p.L240L|C10orf118_ENST00000497592.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		642										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCCTCTTTCAACAACCTACTT	0.358																																																0													169	178	175					10																	115891083		2203	4300	6503	SO:0001819	synonymous_variant	55088																														ENST00000369287.3:c.1924T>C	10.37:g.115891083A>G			Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Silent	SNP	ENST00000369287.3	37	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	A	2.872	-0.233680	0.05983	.	.	ENSG00000165813	ENST00000428953	.	.	.	5.98	-0.988	0.10245	.	.	.	.	.	T	0.58652	0.2137	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55730	-0.8095	4	.	.	.	.	12.1029	0.53794	0.3148:0.0:0.6852:0.0	.	.	.	.	A	270	.	.	V	-	2	0	C10orf118	115881073	0.996000	0.38824	0.799000	0.32177	0.297000	0.27493	0.582000	0.23834	-0.140000	0.11394	0.477000	0.44152	GTT		0.358	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			G	115891083	A	G	115891083	2	3	166	1	0	0	0	0	0	0	0	1	1589	40	2	3		3	C10orf118	10	115891083	Silent	SNP	A	TCGA-B0-4849-01A-01D-1361-10	83	115891083	19643664	17	9652			1	19		2	2	84	N	C_A	6.702673e-05
EIF4G2	1982	hgsc.bcm.edu;ucsc.edu	37	11	10825559	10825559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr11:10825559C>A	ENST00000526148.1	-	8	1099	c.589G>T	c.(589-591)Gag>Tag	p.E197*	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000525681.1_Nonsense_Mutation_p.E197*|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Nonsense_Mutation_p.E197*|EIF4G2_ENST00000396525.2_Nonsense_Mutation_p.E197*	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCTGTTCCTCCTCCTCGGGG	0.393																																																0													92	88	90					11																	10825559		2201	4294	6495	SO:0001587	stop_gained	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.589G>T	11.37:g.10825559C>A	ENSP00000433664:p.Glu197*			Nonsense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	43	10.085577	0.99333	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082;ENST00000524932	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.0886	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	197;197;197;197;270;197;197;197	.	ENSP00000340281:E197X	E	-	1	0	EIF4G2	10782135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.838000	0.97847	0.591000	0.81541	GAG		0.393	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		A	10825559	C	A	10825559	4	1	166	1	0	0	0	0	0	1	0	0	5039	864	30	4	2194	4	EIF4G2	11	10825559	Nonsense_Mutation	SNP	C	TCGA-B0-4849-01A-01D-1361-10		10825559	124180957	18	9653											
TPH1	7166	hgsc.bcm.edu;ucsc.edu	37	11	18050851	18050851	+	Silent	SNP	G	G	A	rs150277860	byFrequency	TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr11:18050851G>A	ENST00000250018.2	-	5	1090	c.528C>T	c.(526-528)acC>acT	p.T176T	TPH1_ENST00000341556.2_Silent_p.T176T	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	176					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CTTGGAATACGGTTCCCCAGG	0.403													G|||	14	0.00279553	0.0098	0.0	5008	,	,		15128	0.0		0.001	False		,,,				2504	0.0															0								G		13,4387	22.3+/-47.3	0,13,2187	250	256	254		528	-11.6	0.1	11	dbSNP_134	254	3,8583	3.0+/-9.4	0,3,4290	no	coding-synonymous	TPH1	NM_004179.2		0,16,6477	AA,AG,GG		0.0349,0.2955,0.1232		176/445	18050851	16,12970	2200	4293	6493	SO:0001819	synonymous_variant	7166			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.528C>T	11.37:g.18050851G>A			D3DQX6|O95188|O95189|Q16736|Q3KPG8	Silent	SNP	ENST00000250018.2	37	CCDS7829.1																																																																																				0.403	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		A	18050851	G	A	18050851	2	1	166	1	0	0	0	0	0	0	0	1	16406	1103	39	1		1	TPH1	11	18050851	Silent	SNP	G	TCGA-B0-4849-01A-01D-1361-10	7225292	18050851	116955665	19	9654											
CLEC12A	160364	hgsc.bcm.edu;ucsc.edu	37	12	10131627	10131627	+	Silent	SNP	C	C	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr12:10131627C>T	ENST00000304361.4	+	2	336	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	CLEC12A_ENST00000355690.4_Silent_p.L62L|CLEC12A_ENST00000434319.2_Silent_p.L52L|CLEC12A_ENST00000350667.4_Intron	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCTGTGCCTTCTGTTGCTCAT	0.438																																					Melanoma(197;1487 2125 16611 22221 34855)											0													227	210	216					12																	10131627		2203	4300	6503	SO:0001819	synonymous_variant	160364			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.154C>T	12.37:g.10131627C>T			B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Silent	SNP	ENST00000304361.4	37	CCDS8608.1																																																																																				0.438	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		T	10131627	C	T	10131627	2	4	166	1	0	0	0	0	0	0	0	1	3499	912	32	2		2	CLEC12A	12	10131627	Silent	SNP	C	TCGA-B0-4849-01A-01D-1361-10		10131627	123720268	20	9655											
KRT75	9119	hgsc.bcm.edu;ucsc.edu	37	12	52818423	52818423	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr12:52818423G>T	ENST00000252245.5	-	9	1754	c.1534C>A	c.(1534-1536)Ctg>Atg	p.L512M	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	512	Tail.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCTGCACCCAGGCTATGCCCA	0.612																																																0													102	105	104					12																	52818423		2203	4300	6503	SO:0001583	missense	9119			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1534C>A	12.37:g.52818423G>T	ENSP00000252245:p.Leu512Met		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509528	0.27036	.	.	ENSG00000170454	ENST00000252245	D	0.87412	-2.25	4.74	1.92	0.25849	.	0.000000	0.31495	N	0.007560	T	0.80529	0.4640	L	0.50333	1.59	0.28552	N	0.911582	P	0.38195	0.622	B	0.40477	0.33	T	0.68648	-0.5353	10	0.21540	T	0.41	.	4.796	0.13272	0.1945:0.177:0.6285:0.0	.	512	O95678	K2C75_HUMAN	M	512	ENSP00000252245:L512M	ENSP00000252245:L512M	L	-	1	2	KRT75	51104690	0.993000	0.37304	0.989000	0.46669	0.856000	0.48823	0.516000	0.22817	0.226000	0.20979	0.491000	0.48974	CTG		0.612	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		T	52818423	G	T	52818423	3	4	166	1	0	0	0	0	1	0	0	0	8490	991	35	4	125	4	KRT75	12	52818423	Missense_Mutation	SNP	G	TCGA-B0-4849-01A-01D-1361-10	42686796	52818423	81033472	21	9656											
TRPC4	7223	hgsc.bcm.edu;ucsc.edu	37	13	38266223	38266223	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr13:38266223C>A	ENST00000379705.3	-	4	2004	c.1147G>T	c.(1147-1149)Gcc>Tcc	p.A383S	TRPC4_ENST00000379679.1_Missense_Mutation_p.A210S|TRPC4_ENST00000379681.3_Missense_Mutation_p.A383S|TRPC4_ENST00000358477.2_Missense_Mutation_p.A383S|TRPC4_ENST00000426868.2_Missense_Mutation_p.A383S|TRPC4_ENST00000379673.2_Missense_Mutation_p.A383S|TRPC4_ENST00000447043.1_Missense_Mutation_p.A383S|TRPC4_ENST00000355779.2_Missense_Mutation_p.A383S|TRPC4_ENST00000338947.5_Missense_Mutation_p.A210S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	383					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGCTGAGAGGCAAGCAGCAGC	0.488																																																0													118	109	112					13																	38266223		2203	4300	6503	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1147G>T	13.37:g.38266223C>A	ENSP00000369027:p.Ala383Ser		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928338	0.92389	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79179	0.4402	M	0.68728	2.09	0.80722	D	1	D;D;D;D;D;D	0.76494	0.994;0.999;0.996;0.999;0.984;0.997	D;D;D;D;D;D	0.77557	0.947;0.976;0.99;0.989;0.918;0.947	T	0.79342	-0.1843	10	0.62326	D	0.03	-15.3861	19.942	0.97168	0.0:1.0:0.0:0.0	.	383;383;383;210;383;383	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	S	383;383;210;210;383;383;383;383;383	ENSP00000369027:A383S;ENSP00000369003:A383S;ENSP00000342580:A210S;ENSP00000369001:A210S;ENSP00000410133:A383S;ENSP00000348025:A383S;ENSP00000351264:A383S;ENSP00000368995:A383S;ENSP00000414316:A383S	ENSP00000342580:A210S	A	-	1	0	TRPC4	37164223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.700000	0.92200	0.563000	0.77884	GCC		0.488	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		A	38266223	C	A	38266223	3	1	166	1	0	0	0	0	1	0	0	0	16585	710	25	4	1833	4	TRPC4	13	38266223	Missense_Mutation	SNP	C	TCGA-B0-4849-01A-01D-1361-10		38266223	76903655	22	9657											
MYH13	8735	hgsc.bcm.edu	37	17	10219054	10219054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr17:10219054G>A	ENST00000418404.3	-	28	4103	c.3940C>T	c.(3940-3942)Cag>Tag	p.Q1314*	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.Q1314*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1314					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCAGCTGCTGGGTGAGGGCC	0.512																																																0													84	84	84					17																	10219054		2008	4180	6188	SO:0001587	stop_gained	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3940C>T	17.37:g.10219054G>A	ENSP00000404570:p.Gln1314*		O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	43	10.402324	0.99398	.	.	ENSG00000006788	ENST00000252172	.	.	.	4.1	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.3042	0.54891	0.0988:0.0:0.9012:0.0	.	.	.	.	X	1314	.	ENSP00000252172:Q1314X	Q	-	1	0	MYH13	10159779	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.481000	0.73608	2.115000	0.64714	0.453000	0.30009	CAG		0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		A	10219054	G	A	10219054	4	1	166	1	0	0	0	0	0	1	0	0	10034	1357	47	2	1928	2	MYH13	17	10219054	Nonsense_Mutation	SNP	G	TCGA-B0-4849-01A-01D-1361-10		10219054	70976156	23	9658											
EMILIN2	84034	hgsc.bcm.edu	37	18	2890860	2890860	+	Silent	SNP	G	G	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr18:2890860G>T	ENST00000254528.3	+	4	894	c.735G>T	c.(733-735)acG>acT	p.T245T		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	245					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACACAGAAACGGGCCAGAGTC	0.498																																																0													53	59	57					18																	2890860		2203	4300	6503	SO:0001819	synonymous_variant	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.735G>T	18.37:g.2890860G>T			B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	CCDS11828.1																																																																																				0.498	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		T	2890860	G	T	2890860	2	4	166	1	0	0	0	0	0	0	0	1	5096	1103	39	4		4	EMILIN2	18	2890860	Silent	SNP	G	TCGA-B0-4849-01A-01D-1361-10		2890860	75186388	24	9659											
VPS16	64601	hgsc.bcm.edu;ucsc.edu	37	20	2844667	2844667	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr20:2844667G>T	ENST00000380445.3	+	16	1621	c.1549G>T	c.(1549-1551)Gtc>Ttc	p.V517F	VPS16_ENST00000380443.3_Missense_Mutation_p.V203F|VPS16_ENST00000380469.3_Missense_Mutation_p.V373F|VPS16_ENST00000481812.2_3'UTR|PTPRA_ENST00000380393.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	517					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CACGCCTGGTGTCTCTTACTC	0.582																																																0													95	91	92					20																	2844667		2203	4300	6503	SO:0001583	missense	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1549G>T	20.37:g.2844667G>T	ENSP00000369810:p.Val517Phe		Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159034	0.38119	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000380443	T;T;T	0.55588	0.51;0.51;0.51	4.96	4.96	0.65561	Vps16, C-terminal (1);	0.176186	0.49305	D	0.000152	T	0.40767	0.1130	L	0.35414	1.06	0.46631	D	0.999137	B;P;B	0.41710	0.013;0.76;0.013	B;B;B	0.39771	0.018;0.309;0.018	T	0.37979	-0.9682	10	0.56958	D	0.05	-31.9039	9.1713	0.37083	0.0965:0.0:0.9035:0.0	.	203;373;517	Q5JUA8;Q9H269-2;Q9H269	.;.;VPS16_HUMAN	F	517;373;255;203	ENSP00000369810:V517F;ENSP00000369836:V373F;ENSP00000369808:V203F	ENSP00000369808:V203F	V	+	1	0	VPS16	2792667	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.322000	0.59215	2.571000	0.86741	0.561000	0.74099	GTC		0.582	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		T	2844667	G	T	2844667	3	4	166	1	0	0	0	0	1	0	0	0	17198	1377	48	4	1611	4	VPS16	20	2844667	Missense_Mutation	SNP	G	TCGA-B0-4849-01A-01D-1361-10		2844667	60180853	25	9660											
MTOR	2475	broad.mit.edu;ucsc.edu	37	1	11187799	11187799	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr1:11187799T>A	ENST00000361445.4	-	44	6174	c.6098A>T	c.(6097-6099)gAg>gTg	p.E2033V	MTOR_ENST00000376838.1_Missense_Mutation_p.E238V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2033	Sufficient for interaction with the FKBP1A/rapamycin complex. {ECO:0000250}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.E2033V(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACGAGATGCCTCTTCCAGGCC	0.537																																																1	Substitution - Missense(1)	kidney(1)											218	224	222					1																	11187799		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6098A>T	1.37:g.11187799T>A	ENSP00000354558:p.Glu2033Val		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.916112	0.92178	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.13089	2.84;2.62	5.8	5.8	0.92144	FKBP12-rapamycin-associated protein, FKBP12-rapamycin-binding (3);	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	M	0.89414	3.03	0.80722	D	1	P	0.49635	0.926	P	0.54706	0.759	T	0.45264	-0.9273	10	0.87932	D	0	-13.1711	16.1549	0.81657	0.0:0.0:0.0:1.0	.	2033	P42345	MTOR_HUMAN	V	2033;238	ENSP00000354558:E2033V;ENSP00000366034:E238V	ENSP00000354558:E2033V	E	-	2	0	MTOR	11110386	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.665000	0.83852	2.209000	0.71365	0.533000	0.62120	GAG		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		A	11187799	T	A	11187799	3	1	167	1	0	0	0	0	1	0	0	0	9956	1551	54	5	1611	5	MTOR	1	11187799	Missense_Mutation	SNP	T	TCGA-B0-4852-01A-01D-1501-10		11187799	238062822	1	9661											
BCL9	607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	147096204	147096204	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr1:147096204C>A	ENST00000234739.3	+	10	4465	c.3725C>A	c.(3724-3726)tCt>tAt	p.S1242Y		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1242	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.S1242Y(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATTATTCCATCTGAGAAGCCC	0.552			T	"IGH@, IGL@"	B-ALL																																		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	1	Substitution - Missense(1)	kidney(1)											57	61	60					1																	147096204		2203	4300	6503	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3725C>A	1.37:g.147096204C>A	ENSP00000234739:p.Ser1242Tyr		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751244	0.69533	.	.	ENSG00000116128	ENST00000234739	T	0.54279	0.58	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.67221	-0.5725	10	0.72032	D	0.01	-11.6976	18.49	0.90843	0.0:1.0:0.0:0.0	.	1242;1242	Q1JQ81;O00512	.;BCL9_HUMAN	Y	1242	ENSP00000234739:S1242Y	ENSP00000234739:S1242Y	S	+	2	0	BCL9	145562828	1.000000	0.71417	0.910000	0.35882	0.976000	0.68499	7.776000	0.85560	2.437000	0.82529	0.655000	0.94253	TCT		0.552	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		A	147096204	C	A	147096204	3	1	167	1	0	0	0	0	1	0	0	0	1381	913	32	4	3751	4	BCL9	1	147096204	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10	135908405	147096204	102154417	2	9662											
CD1E	913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158324301	158324301	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr1:158324301C>A	ENST00000368167.3	+	2	432	c.193C>A	c.(193-195)Cat>Aat	p.H65N	CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.H65N|CD1E_ENST00000368160.3_Missense_Mutation_p.H65N|CD1E_ENST00000368165.3_Missense_Mutation_p.H65N|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.H63N|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.H65N|CD1E_ENST00000368156.1_Missense_Mutation_p.H65N|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.H65N|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	65					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.H65N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCTGCAGACTCATGGCTGGGA	0.557																																																1	Substitution - Missense(1)	kidney(1)											67	72	70					1																	158324301		2181	4299	6480	SO:0001583	missense	913			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.193C>A	1.37:g.158324301C>A	ENSP00000357149:p.His65Asn		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717359	0.30413	.	.	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	T;T;T;T;T;T;T;T	0.07800	3.16;3.16;3.28;3.16;3.16;3.16;3.5;3.41	3.8	2.88	0.33553	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.354296	0.20738	N	0.086581	T	0.19927	0.0479	M	0.89287	3.02	0.34900	D	0.746392	D;P;P;D;D;D;B;D	0.71674	0.989;0.944;0.944;0.979;0.969;0.998;0.131;0.993	D;P;P;D;P;D;B;D	0.72075	0.929;0.624;0.624;0.959;0.844;0.976;0.046;0.967	T	0.05582	-1.0876	10	0.72032	D	0.01	-11.0716	9.4353	0.38635	0.0:0.7828:0.2172:0.0	.	63;65;65;65;65;65;65;65	E7ET31;P15812-5;P15812-7;P15812-2;P15812;P15812-3;P15812-6;P15812-4	.;.;.;.;CD1E_HUMAN;.;.;.	N	63;65;65;65;65;65;65;65	ENSP00000401957:H63N;ENSP00000357149:H65N;ENSP00000357147:H65N;ENSP00000357145:H65N;ENSP00000357142:H65N;ENSP00000357143:H65N;ENSP00000357138:H65N;ENSP00000357137:H65N	ENSP00000357137:H65N	H	+	1	0	CD1E	156590925	0.017000	0.18338	0.533000	0.28001	0.035000	0.12851	0.314000	0.19432	1.171000	0.42768	0.563000	0.77884	CAT		0.557	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		A	158324301	C	A	158324301	3	1	167	1	0	0	0	0	1	0	0	0	2980	826	29	4	199	4	CD1E	1	158324301	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10	11228097	158324301	90926320	3	9663											
PPP2R5A	5525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	212506854	212506854	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr1:212506854T>A	ENST00000261461.2	+	3	968	c.394T>A	c.(394-396)Ttc>Atc	p.F132I	RP11-384C4.7_ENST00000442146.1_RNA|PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.F75I	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	132					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)	p.F132I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TGCTAACATCTTCCGTACACT	0.368																																																1	Substitution - Missense(1)	kidney(1)											109	104	106					1																	212506854		2203	4300	6503	SO:0001583	missense	5525			BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.394T>A	1.37:g.212506854T>A	ENSP00000261461:p.Phe132Ile		B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411331	0.83340	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.29	5.29	0.74685	Armadillo-type fold (1);	0.045421	0.85682	D	0.000000	T	0.77212	0.4097	M	0.90425	3.115	0.80722	D	1	B;B	0.31153	0.31;0.31	B;B	0.38562	0.276;0.276	T	0.80493	-0.1358	9	0.87932	D	0	-9.2483	15.2237	0.73333	0.0:0.0:0.0:1.0	.	75;132	B7Z7L2;Q15172	.;2A5A_HUMAN	I	132;132;75	.	ENSP00000261461:F132I	F	+	1	0	PPP2R5A	210573477	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.809000	0.86057	2.013000	0.59113	0.454000	0.30748	TTC		0.368	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		A	212506854	T	A	212506854	3	1	167	1	0	0	0	0	1	0	0	0	12397	1609	56	5	404	5	PPP2R5A	1	212506854	Missense_Mutation	SNP	T	TCGA-B0-4852-01A-01D-1501-10	54182553	212506854	36743767	4	9664											
OTOF	9381	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	26684967	26684967	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr2:26684967C>A	ENST00000272371.2	-	42	5401	c.5275G>T	c.(5275-5277)Gac>Tac	p.D1759Y	OTOF_ENST00000339598.3_Missense_Mutation_p.D992Y|OTOF_ENST00000338581.6_Missense_Mutation_p.D992Y|OTOF_ENST00000402415.3_Missense_Mutation_p.D1069Y|OTOF_ENST00000403946.3_Missense_Mutation_p.D1759Y	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1759					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.D1069N(1)|p.D1759Y(1)|p.D992N(1)|p.D1759N(1)|p.D1069Y(1)|p.D992Y(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGAAGATGTCACTGGACTTC	0.617																																					GBM(102;732 1451 20652 24062 31372)											6	Substitution - Missense(6)	urinary_tract(3)|kidney(3)											179	162	168					2																	26684967		2203	4300	6503	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5275G>T	2.37:g.26684967C>A	ENSP00000272371:p.Asp1759Tyr		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416266	0.83449	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	4.84	4.84	0.62591	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	H	0.96889	3.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97031	0.9750	10	0.87932	D	0	-36.4813	17.5497	0.87872	0.0:1.0:0.0:0.0	.	1759;992;1069;992	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	Y	992;992;1069;1759;1759	ENSP00000345137:D992Y;ENSP00000344521:D992Y;ENSP00000383906:D1069Y;ENSP00000272371:D1759Y;ENSP00000385255:D1759Y	ENSP00000272371:D1759Y	D	-	1	0	OTOF	26538471	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.773000	0.85462	2.245000	0.73994	0.561000	0.74099	GAC		0.617	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26684967	C	A	26684967	3	1	167	1	0	0	0	0	1	0	0	0	11305	826	29	4	923	4	OTOF	2	26684967	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10		26684967	216514406	5	9665											
KCNG3	170850	hgsc.bcm.edu;ucsc.edu	37	2	42671444	42671444	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr2:42671444A>G	ENST00000306078.1	-	2	1536	c.941T>C	c.(940-942)tTg>tCg	p.L314S	KCNG3_ENST00000394973.4_Missense_Mutation_p.L303S	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	314					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TTTGAGAGTCAAACCGAGTGT	0.453																																																0													105	98	100					2																	42671444		2203	4300	6503	SO:0001583	missense	170850			AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.941T>C	2.37:g.42671444A>G	ENSP00000304127:p.Leu314Ser		Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.283425	0.59867	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	T;T	0.51325	0.71;0.71	5.22	5.22	0.72569	Ion transport (1);	0.000000	0.64402	D	0.000001	T	0.61937	0.2387	L	0.46885	1.475	0.48830	D	0.999717	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.61671	-0.7015	10	0.44086	T	0.13	.	15.1298	0.72514	1.0:0.0:0.0:0.0	.	314;303	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	S	314;303	ENSP00000304127:L314S;ENSP00000378424:L303S	ENSP00000304127:L314S	L	-	2	0	KCNG3	42524948	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.345000	0.79337	1.972000	0.57404	0.460000	0.39030	TTG		0.453	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		G	42671444	A	G	42671444	3	3	167	1	0	0	0	0	1	0	0	0	8031	131	5	3	373	3	KCNG3	2	42671444	Missense_Mutation	SNP	A	TCGA-B0-4852-01A-01D-1501-10	15986477	42671444	200527929	6	9666											
AAK1	22848	broad.mit.edu;ucsc.edu	37	2	69704092	69704092	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr2:69704092A>G	ENST00000409085.4	-	21	3087	c.2711T>C	c.(2710-2712)tTt>tCt	p.F904S	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	904					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.F904S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AGGGACATCAAAACCTGAGAT	0.418																																																1	Substitution - Missense(1)	kidney(1)											88	84	86					2																	69704092		1879	4110	5989	SO:0001583	missense	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2711T>C	2.37:g.69704092A>G	ENSP00000386456:p.Phe904Ser		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137091	0.77775	.	.	ENSG00000115977	ENST00000409085	T	0.32988	1.43	5.71	5.71	0.89125	.	.	.	.	.	T	0.19644	0.0472	L	0.27053	0.805	0.80722	D	1	P	0.34864	0.473	B	0.24848	0.056	T	0.06862	-1.0803	9	0.16896	T	0.51	.	15.1717	0.72878	1.0:0.0:0.0:0.0	.	904	Q2M2I8	AAK1_HUMAN	S	904	ENSP00000386456:F904S	ENSP00000386456:F904S	F	-	2	0	AAK1	69557596	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.270000	0.65547	2.176000	0.68965	0.533000	0.62120	TTT		0.418	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		G	69704092	A	G	69704092	3	3	167	1	0	0	0	0	1	0	0	0	16	14	1	3	182	3	AAK1	2	69704092	Missense_Mutation	SNP	A	TCGA-B0-4852-01A-01D-1501-10	27032648	69704092	173495281	7	9667											
AUP1	165545	broad.mit.edu;ucsc.edu	37	2	74754424	74754424	+	5'Flank	SNP	T	T	C			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr2:74754424T>C	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.E343G|DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000258080.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.E343G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GGTGATGTCTTCAGGCATGAA	0.547																																																1	Substitution - Missense(1)	kidney(1)											52	53	53					2																	74754424		1971	4142	6113	SO:0001631	upstream_gene_variant	550			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754424T>C	Exception_encountered		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	T	16.71	3.197906	0.58126	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.15	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.63908	0.2551	L	0.40543	1.245	0.52099	D	0.999941	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.87578	0.994;0.991;0.998	T	0.63207	-0.6689	9	0.54805	T	0.06	-7.2361	7.5904	0.28017	0.0:0.0946:0.0:0.9054	.	400;409;343	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	G	343;407;345	.	ENSP00000258081:E407G	E	-	2	0	AUP1	74607932	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.150000	0.64869	0.978000	0.38470	0.533000	0.62120	GAA		0.547	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		C	74754424	T	C	74754424	1	2	167	0	1	0	0	0	0	0	0	0	1220	1783	62	3		3	AUP1	2	74754424	5'Flank	SNP	T	TCGA-B0-4852-01A-01D-1501-10	5050332	74754424	168444949	8	9668											
SCN7A	6332	broad.mit.edu;ucsc.edu	37	2	167289087	167289087	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr2:167289087A>T	ENST00000409855.1	-	15	2459	c.2333T>A	c.(2332-2334)aTg>aAg	p.M778K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	778					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M778K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TACATGGTCCATTGTGTCCTT	0.343																																																2	Substitution - Missense(2)	kidney(2)											182	172	175					2																	167289087		1843	4092	5935	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2333T>A	2.37:g.167289087A>T	ENSP00000386796:p.Met778Lys			Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	0.046	-1.265996	0.01433	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.82433	-1.61;-1.61	5.51	-3.24	0.05094	Sodium ion transport-associated (1);	1.096010	0.06855	N	0.798094	T	0.62332	0.2419	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51028	-0.8757	10	0.06365	T	0.9	.	0.3394	0.00331	0.3095:0.1327:0.2537:0.3042	.	778	Q01118	SCN7A_HUMAN	K	778	ENSP00000386796:M778K;ENSP00000413699:M778K	ENSP00000259060:M778K	M	-	2	0	SCN7A	166997333	0.000000	0.05858	0.004000	0.12327	0.581000	0.36288	-0.169000	0.09911	-0.299000	0.08909	0.459000	0.35465	ATG		0.343	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			T	167289087	A	T	167289087	3	4	167	1	0	0	0	0	1	0	0	0	13929	217	8	5	2759	5	SCN7A	2	167289087	Missense_Mutation	SNP	A	TCGA-B0-4852-01A-01D-1501-10	92534663	167289087	75910286	9	9669											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179622487	179622487	+	Intron	SNP	C	C	A	rs531271853		TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr2:179622487C>A	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R3441M|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R3487M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						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)	p.R3441M(1)		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)			GCCAGAAACCCTCGCATGAAA	0.483																																																1	Substitution - Missense(1)	kidney(1)											116	115	115					2																	179622487		1880	4112	5992	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+1223G>T	2.37:g.179622487C>A			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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.13	2.146447	0.37923	.	.	ENSG00000155657	ENST00000359218	T	0.68331	-0.32	6.16	6.16	0.99307	.	.	.	.	.	T	0.73087	0.3542	.	.	.	0.24944	N	0.991834	P	0.45634	0.863	P	0.49597	0.616	T	0.69072	-0.5242	8	0.87932	D	0	.	15.5636	0.76269	0.1378:0.8622:0.0:0.0	.	3441	E7EQE6	.	M	3441	ENSP00000352154:R3441M	ENSP00000352154:R3441M	R	-	2	0	TTN	179330732	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.123000	0.50453	2.937000	0.99478	0.650000	0.86243	AGG		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179622487	C	A	179622487	1	1	167	0	1	0	0	0	0	0	0	0	16740	681	24	4		4	TTN	2	179622487	Intron	SNP	C	TCGA-B0-4852-01A-01D-1501-10	12333400	179622487	63576886	10	9670											
ZFAND2B	130617	broad.mit.edu;ucsc.edu	37	2	220072989	220072989	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr2:220072989T>C	ENST00000289528.5	+	5	641	c.446T>C	c.(445-447)aTc>aCc	p.I149T	ZFAND2B_ENST00000409097.1_Missense_Mutation_p.I149T|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.I149T|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.I149T|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.I149T|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.I149T|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.I149T	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	149						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)	p.I149T(1)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGCTGCCATCTCCAGAGCA	0.532																																																1	Substitution - Missense(1)	kidney(1)											75	62	66					2																	220072989		2203	4300	6503	SO:0001583	missense	130617			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.446T>C	2.37:g.220072989T>C	ENSP00000289528:p.Ile149Thr		Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286451	0.40494	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T;T;T	0.44881	0.95;0.95;0.91;0.92;0.91;0.91;0.92;0.91	5.32	5.32	0.75619	Zinc finger, AN1-type (1);	0.400654	0.26646	N	0.023223	T	0.38480	0.1042	L	0.54323	1.7	0.38030	D	0.93514	P;B;B	0.36438	0.553;0.019;0.149	B;B;B	0.35470	0.203;0.022;0.053	T	0.44283	-0.9338	10	0.48119	T	0.1	-15.7601	11.5973	0.50981	0.0:0.0:0.0:1.0	.	40;149;149	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	T	149	ENSP00000386824:I149T;ENSP00000386399:I149T;ENSP00000289528:I149T;ENSP00000409931:I149T;ENSP00000387179:I149T;ENSP00000386898:I149T;ENSP00000386370:I149T;ENSP00000411334:I149T	ENSP00000289528:I149T	I	+	2	0	ZFAND2B	219781233	0.998000	0.40836	1.000000	0.80357	0.961000	0.63080	3.720000	0.54933	2.233000	0.73108	0.533000	0.62120	ATC		0.532	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		C	220072989	T	C	220072989	3	2	167	1	0	0	0	0	1	0	0	0	17633	1435	50	3	464	3	ZFAND2B	2	220072989	Missense_Mutation	SNP	T	TCGA-B0-4852-01A-01D-1501-10	40450502	220072989	23126384	11	9671											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10191469	10191469	+	Splice_Site	SNP	A	A	G	rs5030816		TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr3:10191469A>G	ENST00000256474.2	+	3	1303		c.e3-1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(8)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTGCCCTTCCAGTGTATACTC	0.498		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Unknown(8)	kidney(7)|adrenal_gland(1)	GRCh37	CS941546|CS961704|CS961705	VHL	S	rs5030816						87	79	82					3																	10191469		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.464-1A>G	3.37:g.10191469A>G			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147006	0.37923	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2441	0.54560	1.0:0.0:0.0:0.0	rs5030816	.	.	.	.	-1	.	.	.	+	.	.	VHL	10166469	1.000000	0.71417	0.996000	0.52242	0.357000	0.29423	6.694000	0.74587	2.052000	0.61016	0.533000	0.62120	.		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	G	10191469	A	G	10191469	5	3	167	1	0	0	0	0	0	0	1	0	17167	202	7	3	472	3	VHL	3	10191469	Splice_Site	SNP	A	TCGA-B0-4852-01A-01D-1501-10		10191469	187830961	12	9672											
ULK4	54986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	41795894	41795895	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr3:41795894_41795895insA	ENST00000301831.4	-	22	2741_2742	c.2279_2280insT	c.(2278-2280)ttgfs	p.L760fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	760					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGTTATAAATCAAAATATATAG	0.381																																																0																																										SO:0001589	frameshift_variant	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2280dupT	3.37:g.41795898_41795898dupA	ENSP00000301831:p.Leu760fs		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Ins	INS	ENST00000301831.4	37	CCDS43071.1																																																																																				0.381	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		A	41795895	-	A	41795894	7	5	167	1	0	1	1	0	0	0	0	0	16983	825	29	0	1611	0	ULK4	3	41795894	Frame_Shift_Ins	INS	-	TCGA-B0-4852-01A-01D-1501-10	31604425	41795894	156226536	13	9673											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47144873	47144873	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr3:47144873A>C	ENST00000409792.3	-	7	4922	c.4880T>G	c.(4879-4881)aTg>aGg	p.M1627R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1627	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.M1627R(1)|p.M1124R(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCTGTGATTCATGAAACGAGA	0.333			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											166	154	158					3																	47144873		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4880T>G	3.37:g.47144873A>C	ENSP00000386759:p.Met1627Arg		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	25.1	4.598492	0.87055	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.81908	-1.55	5.83	5.83	0.93111	SET domain (3);	0.000000	0.64402	D	0.000003	D	0.91161	0.7216	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.987;0.997	D	0.92242	0.5801	10	0.87932	D	0	.	14.7708	0.69675	1.0:0.0:0.0:0.0	.	1627;1627	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1627	ENSP00000386759:M1627R	ENSP00000386759:M1627R	M	-	2	0	SETD2	47119877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.890000	0.92477	2.240000	0.73641	0.528000	0.53228	ATG		0.333	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		C	47144873	A	C	47144873	3	2	167	1	0	0	0	0	1	0	0	0	14137	217	8	5	2874	5	SETD2	3	47144873	Missense_Mutation	SNP	A	TCGA-B0-4852-01A-01D-1501-10	5348979	47144873	150877557	14	9674											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52623124	52623124	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr3:52623124delT	ENST00000296302.7	-	18	2928	c.2927delA	c.(2926-2928)catfs	p.H976fs	PBRM1_ENST00000409114.3_Frame_Shift_Del_p.H991fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.H976fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.H976fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.H991fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.H944fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.H976fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.H976fs			Q86U86	PB1_HUMAN	polybromo 1	976	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACAGACGATATGTGGTTGTAG	0.418			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													175	168	170					3																	52623124		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2927delA	3.37:g.52623124delT	ENSP00000296302:p.His976fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.418	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52623124	T	-	52623124	7	5	167	1	0	1	0	1	0	0	0	0	11493	1464	51	0	2025	0	PBRM1	3	52623124	Frame_Shift_Del	DEL	T	TCGA-B0-4852-01A-01D-1501-10	5478251	52623124	145399306	15	9675											
HCLS1	3059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121366274	121366274	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr3:121366274T>G	ENST00000314583.3	-	4	271	c.180A>C	c.(178-180)aaA>aaC	p.K60N	HCLS1_ENST00000428394.2_Missense_Mutation_p.K60N	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	60	Involved in HAX-1 binding.				actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.K60N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTCTGATACTTTGTTCCTCA	0.483																																																1	Substitution - Missense(1)	kidney(1)											148	139	142					3																	121366274		2203	4300	6503	SO:0001583	missense	3059				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.180A>C	3.37:g.121366274T>G	ENSP00000320176:p.Lys60Asn		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	T	3.966	-0.009335	0.07727	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.20200	2.09;2.1	5.64	3.28	0.37604	.	0.094646	0.64402	D	0.000001	T	0.06462	0.0166	N	0.04297	-0.235	0.53005	D	0.99996	B;P;B	0.39480	0.001;0.675;0.397	B;B;B	0.30105	0.001;0.111;0.057	T	0.32798	-0.9893	10	0.09338	T	0.73	-17.3361	8.4714	0.32988	0.0:0.1572:0.0:0.8428	.	60;60;60	B4DTP2;E7EVW7;P14317	.;.;HCLS1_HUMAN	N	60	ENSP00000320176:K60N;ENSP00000387645:K60N	ENSP00000320176:K60N	K	-	3	2	HCLS1	122848964	0.998000	0.40836	1.000000	0.80357	0.574000	0.36063	0.439000	0.21575	0.568000	0.29311	-0.297000	0.09499	AAA		0.483	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		G	121366274	T	G	121366274	3	3	167	1	0	0	0	0	1	0	0	0	6997	1606	56	5	1324	5	HCLS1	3	121366274	Missense_Mutation	SNP	T	TCGA-B0-4852-01A-01D-1501-10	68743150	121366274	76656156	16	9676											
MED12L	116931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	150874118	150874118	+	Splice_Site	SNP	G	G	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr3:150874118G>T	ENST00000474524.1	+	5	764		c.e5+1		MED12L_ENST00000309237.4_Splice_Site|MED12L_ENST00000422248.2_Splice_Site|MED12L_ENST00000273432.4_Splice_Site	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGTTCCAGGTAACCTTTTG	0.453																																																1	Unknown(1)	kidney(1)											128	118	121					3																	150874118		2203	4300	6503	SO:0001630	splice_region_variant	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.726+1G>T	3.37:g.150874118G>T			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Splice_Site	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603499	0.87157	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4315	0.90627	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED12L	152356808	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	9.250000	0.95477	2.515000	0.84797	0.557000	0.71058	.		0.453	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	Intron	T	150874118	G	T	150874118	5	4	167	1	0	0	0	0	0	0	1	0	9431	1275	44	4	745	4	MED12L	3	150874118	Splice_Site	SNP	G	TCGA-B0-4852-01A-01D-1501-10	29507844	150874118	47148312	17	9677											
ATP13A4	84239	broad.mit.edu;ucsc.edu	37	3	193158423	193158423	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr3:193158423A>C	ENST00000342695.4	-	21	2765	c.2443T>G	c.(2443-2445)Ttg>Gtg	p.L815V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L796V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	815						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L815V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCATTGATCAATATCTGTAAG	0.403																																																1	Substitution - Missense(1)	kidney(1)											74	76	75					3																	193158423		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2443T>G	3.37:g.193158423A>C	ENSP00000339182:p.Leu815Val		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857570	0.51376	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.87650	-1.99;-2.28	5.7	0.953	0.19590	HAD-like domain (2);	0.000000	0.53938	D	0.000051	D	0.87755	0.6257	L	0.60012	1.86	0.80722	D	1	P;B;P	0.50156	0.88;0.419;0.932	P;B;P	0.55087	0.768;0.422;0.708	D	0.83539	0.0095	10	0.40728	T	0.16	-14.0576	9.4145	0.38512	0.4179:0.0:0.5821:0.0	.	796;815;815	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	V	796;815	ENSP00000376238:L796V;ENSP00000339182:L815V	ENSP00000339182:L815V	L	-	1	2	ATP13A4	194641117	0.527000	0.26306	0.995000	0.50966	0.872000	0.50106	0.371000	0.20450	-0.109000	0.12044	-0.147000	0.13772	TTG		0.403	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		C	193158423	A	C	193158423	3	2	167	1	0	0	0	0	1	0	0	0	1126	98	4	5	1187	5	ATP13A4	3	193158423	Missense_Mutation	SNP	A	TCGA-B0-4852-01A-01D-1501-10	42284305	193158423	4864007	18	9678											
TEC	7006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	48148400	48148400	+	Silent	SNP	A	A	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr4:48148400A>T	ENST00000381501.3	-	12	1180	c.1023T>A	c.(1021-1023)ctT>ctA	p.L341L	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	341	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L341L(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTGGGTACCGAAGCCTGGTGA	0.413																																																1	Substitution - coding silent(1)	kidney(1)											153	148	149					4																	48148400		2203	4300	6503	SO:0001819	synonymous_variant	100124696			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1023T>A	4.37:g.48148400A>T			B7ZKZ6|Q3MIS5	Silent	SNP	ENST00000381501.3	37	CCDS3481.1																																																																																				0.413	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			T	48148400	A	T	48148400	2	4	167	1	0	0	0	0	0	0	0	1	15747	233	9	5		5	TEC	4	48148400	Silent	SNP	A	TCGA-B0-4852-01A-01D-1501-10		48148400	143005876	19	9679											
SEC24D	9871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	119718966	119718966	+	Splice_Site	SNP	C	C	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr4:119718966C>T	ENST00000280551.6	-	8	1152		c.e8-1		SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000379735.5_Splice_Site			O94855	SC24D_HUMAN	SEC24 family member D						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.?(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTGGCATTTCCTGAAACATTC	0.353																																																1	Unknown(1)	kidney(1)											91	78	82					4																	119718966		2203	4300	6503	SO:0001630	splice_region_variant	9871			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.914-1G>A	4.37:g.119718966C>T			Q8IYI7	Splice_Site	SNP	ENST00000280551.6	37	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397650	0.83120	.	.	ENSG00000150961	ENST00000280551;ENST00000379735	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2733	0.90074	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC24D	119938414	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.394000	0.79862	2.616000	0.88540	0.655000	0.94253	.		0.353	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		Intron	T	119718966	C	T	119718966	5	4	167	1	0	0	0	0	0	0	1	0	14003	695	24	2	2249	2	SEC24D	4	119718966	Splice_Site	SNP	C	TCGA-B0-4852-01A-01D-1501-10	71570566	119718966	71435310	20	9680											
GRIA2	2891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	158282180	158282180	+	Silent	SNP	A	A	C			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr4:158282180A>C	ENST00000264426.9	+	14	2589	c.2310A>C	c.(2308-2310)gcA>gcC	p.A770A	GRIA2_ENST00000449365.1_Intron|GRIA2_ENST00000296526.7_Intron|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000507898.1_Intron	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	770					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A770A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTAACCTCGCAGTACTAAAAC	0.393																																																1	Substitution - coding silent(1)	kidney(1)											71	72	71					4																	158282180		2203	4300	6503	SO:0001819	synonymous_variant	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2310A>C	4.37:g.158282180A>C			A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	CCDS43274.1																																																																																				0.393	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			C	158282180	A	C	158282180	2	2	167	1	0	0	0	0	0	0	0	1	6770	175	7	5		5	GRIA2	4	158282180	Silent	SNP	A	TCGA-B0-4852-01A-01D-1501-10	38563214	158282180	32872096	21	9681											
MARCH1	55016	broad.mit.edu;ucsc.edu	37	4	164450028	164450028	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr4:164450028G>T	ENST00000503008.1	-	8	1718	c.742C>A	c.(742-744)Ctg>Atg	p.L248M	MARCH1_ENST00000339875.5_Missense_Mutation_p.L231M|MARCH1_ENST00000274056.7_Missense_Mutation_p.L248M|MARCH1_ENST00000514618.1_Missense_Mutation_p.L504M|RP11-218F10.3_ENST00000609356.1_lincRNA	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	248	Responsible for down-regulation of CD86 and MHC class II cell surface expression. {ECO:0000250}.				antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L231M(1)|p.L248M(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCTTCTCCAGTTTTTTGGCA	0.453																																																2	Substitution - Missense(2)	kidney(2)											121	108	112					4																	164450028		2203	4299	6502	SO:0001583	missense	55016			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.742C>A	4.37:g.164450028G>T	ENSP00000427223:p.Leu248Met		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382310	0.61845	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.33865	1.83;1.83;1.39;1.42	5.58	4.73	0.59995	.	0.555807	0.16237	N	0.223339	T	0.44201	0.1282	L	0.47716	1.5	0.27242	N	0.959123	P;P	0.35714	0.517;0.508	B;P	0.49140	0.289;0.601	T	0.39078	-0.9631	10	0.45353	T	0.12	-32.2407	10.2151	0.43164	0.0708:0.1373:0.7919:0.0	.	248;231	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	M	248;248;504;231	ENSP00000274056:L248M;ENSP00000427223:L248M;ENSP00000421322:L504M;ENSP00000345676:L231M	ENSP00000274056:L248M	L	-	1	2	MARCH1	164669478	0.983000	0.35010	0.997000	0.53966	0.999000	0.98932	0.526000	0.22971	1.481000	0.48307	0.655000	0.94253	CTG		0.453	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		T	164450028	G	T	164450028	3	4	167	1	0	0	0	0	1	0	0	0	9300	1020	36	4	131	4	MARCH1	4	164450028	Missense_Mutation	SNP	G	TCGA-B0-4852-01A-01D-1501-10	6167848	164450028	26704248	22	9682											
ADAMTS6	11174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	64483842	64483842	+	Splice_Site	SNP	C	C	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr5:64483842C>G	ENST00000314351.5	-	3	570		c.e3+1					Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GATTTCCTTACCTCAGACCAG	0.433																																																2	Unknown(2)	kidney(2)											88	88	88					5																	64483842		2203	4300	6503	SO:0001630	splice_region_variant	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.752+1G>C	5.37:g.64483842C>G			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Splice_Site	SNP	ENST00000314351.5	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.364473	0.82463	.	.	ENSG00000049192	ENST00000381055	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6423	0.91399	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS6	64519598	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.484000	0.81180	2.385000	0.81259	0.591000	0.81541	.		0.433	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941	Intron	G	64483842	C	G	64483842	5	3	167	1	0	0	0	0	0	0	1	0	270	521	18	4	458	4	ADAMTS6	5	64483842	Splice_Site	SNP	C	TCGA-B0-4852-01A-01D-1501-10		64483842	116431418	23	9683											
DNAH8	1769	hgsc.bcm.edu;ucsc.edu	37	6	38957910	38957910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr6:38957910delC	ENST00000359357.3	+	86	12779	c.12525delC	c.(12523-12525)aacfs	p.N4175fs	DNAH8_ENST00000441566.1_Frame_Shift_Del_p.N4139fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4175					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCTAGATAACCCTGAAGTCT	0.403																																																0													210	196	201					6																	38957910		2203	4300	6503	SO:0001589	frameshift_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12525delC	6.37:g.38957910delC	ENSP00000352312:p.Asn4175fs		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37																																																																																					0.403	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		-	38957910	C	-	38957910	7	5	167	1	0	1	0	1	0	0	0	0	4609	506	18	0	12859	0	DNAH8	6	38957910	Frame_Shift_Del	DEL	C	TCGA-B0-4852-01A-01D-1501-10		38957910	132157157	24	9684											
OPRM1	4988	broad.mit.edu;hgsc.bcm.edu	37	6	154412543	154412543	+	Missense_Mutation	SNP	G	G	T	rs201516315		TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr6:154412543G>T	ENST00000330432.7	+	3	1337	c.1100G>T	c.(1099-1101)cGa>cTa	p.R367L	OPRM1_ENST00000428397.2_Missense_Mutation_p.R367L|OPRM1_ENST00000522236.1_Missense_Mutation_p.R267L|OPRM1_ENST00000518759.1_Missense_Mutation_p.R286L|OPRM1_ENST00000337049.4_Missense_Mutation_p.R367L|OPRM1_ENST00000452687.2_Missense_Mutation_p.R367L|OPRM1_ENST00000435918.2_Missense_Mutation_p.R367L|OPRM1_ENST00000520708.1_Missense_Mutation_p.R267L|OPRM1_ENST00000360422.4_Missense_Mutation_p.R367L|OPRM1_ENST00000414028.2_Missense_Mutation_p.R367L|OPRM1_ENST00000522555.1_Missense_Mutation_p.R267L|OPRM1_ENST00000434900.2_Missense_Mutation_p.R460L|OPRM1_ENST00000524163.1_Missense_Mutation_p.R367L|OPRM1_ENST00000419506.2_Missense_Mutation_p.R367L|OPRM1_ENST00000229768.5_Missense_Mutation_p.R367L	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	367					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.R367L(2)|p.R460L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AACTCCACTCGAATTCGTCAG	0.443																																																3	Substitution - Missense(3)	kidney(3)											59	58	58					6																	154412543		1916	4124	6040	SO:0001583	missense	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1100G>T	6.37:g.154412543G>T	ENSP00000328264:p.Arg367Leu		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578391	0.86645	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	6.16	5.3	0.74995	.	0.291378	0.34067	N	0.004299	T	0.53642	0.1809	M	0.77616	2.38	0.52501	D	0.999955	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;0.993;0.98;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;P;D;D;D;D;D	0.91635	0.999;0.988;0.991;0.999;0.993;0.937;0.895;0.994;0.98;0.99;0.997;0.988	T	0.62539	-0.6833	10	0.87932	D	0	.	15.319	0.74105	0.0662:0.0:0.9338:0.0	.	367;367;367;367;460;286;267;367;367;367;367;367	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	L	460;267;286;367;367;367;367;367;367;367;367;367;367;267;267	ENSP00000394624:R460L;ENSP00000430876:R267L;ENSP00000430260:R286L;ENSP00000328264:R367L;ENSP00000353598:R367L;ENSP00000411903:R367L;ENSP00000410497:R367L;ENSP00000229768:R367L;ENSP00000403549:R367L;ENSP00000430097:R367L;ENSP00000399359:R367L;ENSP00000413752:R367L;ENSP00000338381:R367L;ENSP00000429719:R267L;ENSP00000429373:R267L	ENSP00000229768:R367L	R	+	2	0	OPRM1	154454236	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	6.535000	0.73838	1.626000	0.50381	0.650000	0.86243	CGA		0.443	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		T	154412543	G	T	154412543	3	4	167	1	0	0	0	0	1	0	0	0	10889	1058	37	4	1444	4	OPRM1	6	154412543	Missense_Mutation	SNP	G	TCGA-B0-4852-01A-01D-1501-10	115454633	154412543	16702524	25	9685											
KLHL7	55975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23183605	23183605	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr7:23183605C>G	ENST00000339077.5	+	6	997	c.754C>G	c.(754-756)Ctt>Gtt	p.L252V	KLHL7_ENST00000409689.1_Missense_Mutation_p.L204V|KLHL7_ENST00000539124.1_Missense_Mutation_p.L176V|KLHL7_ENST00000545443.1_Missense_Mutation_p.L230V|KLHL7_ENST00000542558.1_Missense_Mutation_p.L27V|KLHL7_ENST00000322231.7_Missense_Mutation_p.L230V	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	252					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.L230V(1)|p.L252V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCTGAACCACTTATTCAAGA	0.363																																																2	Substitution - Missense(2)	kidney(2)											105	99	101					7																	23183605		2203	4300	6503	SO:0001583	missense	55975				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.754C>G	7.37:g.23183605C>G	ENSP00000343273:p.Leu252Val		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823173	0.90873	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443;ENST00000414163	T;T;T;T;T;T;D	0.90069	-0.92;-0.94;-0.93;-1.17;-0.91;-0.92;-2.61	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.91284	0.7252	M	0.66297	2.02	0.58432	D	0.999998	D;D;P	0.56968	0.978;0.978;0.932	P;P;B	0.49829	0.623;0.623;0.444	D	0.91841	0.5483	10	0.62326	D	0.03	.	19.5857	0.95489	0.0:1.0:0.0:0.0	.	27;252;230	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	V	93;218;230;252;176;27;204;230;20	ENSP00000322958:L230V;ENSP00000343273:L252V;ENSP00000441136:L176V;ENSP00000442367:L27V;ENSP00000386263:L204V;ENSP00000442366:L230V;ENSP00000404181:L20V	ENSP00000322958:L230V	L	+	1	0	KLHL7	23150130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.199000	0.77831	2.696000	0.92011	0.591000	0.81541	CTT		0.363	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		G	23183605	C	G	23183605	3	3	167	1	0	0	0	0	1	0	0	0	8396	565	20	4	839	4	KLHL7	7	23183605	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10		23183605	135955058	26	9686											
WASL	8976	broad.mit.edu	37	7	123332892	123332892	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr7:123332892C>A	ENST00000223023.4	-	9	1188	c.856G>T	c.(856-858)Ggg>Tgg	p.G286W		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	286	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.G286W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ggaggtggCCCTCCCCTTGAT	0.522																																																1	Substitution - Missense(1)	kidney(1)											49	55	53					7																	123332892		2197	4292	6489	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.856G>T	7.37:g.123332892C>A	ENSP00000223023:p.Gly286Trp		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768733	0.49680	.	.	ENSG00000106299	ENST00000223023	D	0.91237	-2.81	5.72	5.72	0.89469	Wiscott-Aldrich syndrome, C-terminal (1);	0.050242	0.85682	D	0.000000	D	0.93654	0.7973	M	0.71206	2.165	0.58432	D	0.999999	D	0.56287	0.975	P	0.53649	0.731	D	0.93831	0.7128	10	0.72032	D	0.01	-3.3564	19.9234	0.97095	0.0:1.0:0.0:0.0	.	286	O00401	WASL_HUMAN	W	286	ENSP00000223023:G286W	ENSP00000223023:G286W	G	-	1	0	WASL	123120128	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.342000	0.65970	2.718000	0.92993	0.644000	0.83932	GGG		0.522	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		A	123332892	C	A	123332892	3	1	167	1	0	0	0	0	1	0	0	0	17261	681	24	4	673	4	WASL	7	123332892	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10	100149287	123332892	35805771	27	9687											
ADCK2	90956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	140387007	140387007	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr7:140387007T>A	ENST00000072869.4	+	5	1701	c.1523T>A	c.(1522-1524)tTc>tAc	p.F508Y	ADCK2_ENST00000476491.1_Missense_Mutation_p.F508Y	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	508	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F508Y(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTGAGGAATTTCCGGGCAGTT	0.562																																																1	Substitution - Missense(1)	kidney(1)											34	26	29					7																	140387007		2202	4298	6500	SO:0001583	missense	90956			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1523T>A	7.37:g.140387007T>A	ENSP00000072869:p.Phe508Tyr		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.59|16.59	3.164389|3.164389	0.57476|0.57476	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000483369|ENST00000072869;ENST00000476491;ENST00000473512	.|T;T;T	.|0.46819	.|0.86;0.86;2.1	4.91|4.91	3.73|3.73	0.42828|0.42828	.|.	0.140157|0.140157	0.49305|0.49305	D|D	0.000142|0.000142	T|T	0.62889|0.62889	0.2465|0.2465	M|M	0.61703|0.61703	1.905|1.905	0.46586|0.46586	D|D	0.999115|0.999115	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.71656	.|0.974;0.959	T|T	0.64875|0.64875	-0.6304|-0.6304	6|10	.|0.72032	.|D	.|0.01	-9.9628|-9.9628	11.7986|11.7986	0.52114|0.52114	0.0:0.0:0.1472:0.8528|0.0:0.0:0.1472:0.8528	.|.	.|508;508	.|C9JE15;Q7Z695	.|.;ADCK2_HUMAN	L|Y	345|508;508;148	.|ENSP00000072869:F508Y;ENSP00000420512:F508Y;ENSP00000420288:F148Y	.|ENSP00000072869:F508Y	F|F	+|+	3|2	2|0	ADCK2|ADCK2	140033476|140033476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.112000|0.112000	0.19704|0.19704	7.490000|7.490000	0.81461|0.81461	0.878000|0.878000	0.35920|0.35920	-0.619000|-0.619000	0.04042|0.04042	TTT|TTC		0.562	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		A	140387007	T	A	140387007	3	1	167	1	0	0	0	0	1	0	0	0	289	1783	62	5	1541	5	ADCK2	7	140387007	Missense_Mutation	SNP	T	TCGA-B0-4852-01A-01D-1501-10	17054115	140387007	18751656	28	9688											
CTSL1	1514	broad.mit.edu;hgsc.bcm.edu	37	9	90343025	90343026	+	Frame_Shift_Del	DEL	AC	AC	-	rs147396029|rs141209993	byFrequency	TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr9:90343025_90343026delAC	ENST00000343150.5	+	3	1100_1101	c.210_211delAC	c.(208-213)aaacacfs	p.H71fs	CTSL_ENST00000342020.5_Frame_Shift_Del_p.H71fs|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Frame_Shift_Del_p.H71fs			P07711	CATL1_HUMAN	cathepsin L	71					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										GGGAAGGGAAACACAGCTTCAC	0.465																																																0																																										SO:0001589	frameshift_variant	1514			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.210_211delAC	9.37:g.90343027_90343028delAC	ENSP00000345344:p.His71fs		Q6IAV1|Q96QJ0	Frame_Shift_Del	DEL	ENST00000343150.5	37	CCDS6675.1																																																																																				0.465	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		-	90343026	AC	-	90343025	7	5	167	1	0	1	0	1	0	0	0	0	4040	40	2	0	216	0	CTSL1	9	90343025	Frame_Shift_Del	DEL	AC	TCGA-B0-4852-01A-01D-1501-10		90343025	50870406	29	9689											
CEP110	11064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123870184	123870184	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr9:123870184A>T	ENST00000373855.1	+	8	1173	c.913A>T	c.(913-915)Aaa>Taa	p.K305*	CNTRL_ENST00000373865.2_Nonsense_Mutation_p.K305*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.K305*			Q7Z7A1	CNTRL_HUMAN	centriolin	305					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.K305*(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAATCAAGATAAATTGAATAA	0.333																																																1	Substitution - Nonsense(1)	kidney(1)											42	45	44					9																	123870184		2203	4299	6502	SO:0001587	stop_gained	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.913A>T	9.37:g.123870184A>T	ENSP00000362962:p.Lys305*		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Nonsense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	38	6.945976	0.97956	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	.	.	.	5.98	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	5.6448	0.17584	0.7421:0.0:0.2579:0.0	.	.	.	.	X	305	.	ENSP00000238341:K305X	K	+	1	0	CNTRL	122910005	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	2.824000	0.48088	2.296000	0.77279	0.482000	0.46254	AAA		0.333	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		T	123870184	A	T	123870184	4	4	167	1	0	0	0	0	0	1	0	0	3247	363	13	5	935	5	CEP110	9	123870184	Nonsense_Mutation	SNP	A	TCGA-B0-4852-01A-01D-1501-10	33527159	123870184	17343247	30	9690											
DIP2C	22982	broad.mit.edu;hgsc.bcm.edu	37	10	375486	375486	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr10:375486G>T	ENST00000280886.6	-	30	3727	c.3640C>A	c.(3640-3642)Ccc>Acc	p.P1214T		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1214						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P1214T(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACAAGGCGGGGTTGGTTTCC	0.582																																																1	Substitution - Missense(1)	kidney(1)											57	51	53					10																	375486		2203	4300	6503	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3640C>A	10.37:g.375486G>T	ENSP00000280886:p.Pro1214Thr		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.03|18.03	3.531270|3.531270	0.64972|0.64972	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000434695|ENST00000280886;ENST00000535541;ENST00000381503	.|T	.|0.13196	.|2.61	5.71|5.71	5.71|5.71	0.89125|0.89125	.|AMP-dependent synthetase/ligase (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.39759|0.39759	0.1090|0.1090	M|M	0.75884|0.75884	2.315|2.315	0.80722|0.80722	D|D	1|1	.|D	.|0.56521	.|0.976	.|D	.|0.64877	.|0.93	T|T	0.12553|0.12553	-1.0543|-1.0543	6|10	.|0.87932	.|D	.|0	-19.9|-19.9	19.8535|19.8535	0.96748|0.96748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1214	.|Q9Y2E4	.|DIP2C_HUMAN	H|T	19|1214;139;63	.|ENSP00000280886:P1214T	.|ENSP00000280886:P1214T	P|P	-|-	2|1	0|0	DIP2C|DIP2C	365486|365486	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.014000|0.014000	0.08584|0.08584	8.008000|8.008000	0.88588|0.88588	2.694000|2.694000	0.91930|0.91930	0.557000|0.557000	0.71058|0.71058	CCC|CCC		0.582	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	375486	G	T	375486	3	4	167	1	0	0	0	0	1	0	0	0	4531	1232	43	4	1062	4	DIP2C	10	375486	Missense_Mutation	SNP	G	TCGA-B0-4852-01A-01D-1501-10		375486	135159261	31	9691											
C10orf47	254427	broad.mit.edu;hgsc.bcm.edu	37	10	11894170	11894170	+	Silent	SNP	C	C	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr10:11894170C>T	ENST00000277570.5	+	2	248	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000474155.1_3'UTR	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	32	Ser-rich.							p.L32L(1)									AGGCGGCAGCCTGGAGAGTCG	0.552																																																1	Substitution - coding silent(1)	kidney(1)											57	45	49					10																	11894170		2203	4299	6502	SO:0001819	synonymous_variant	0			BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.94C>T	10.37:g.11894170C>T			D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Silent	SNP	ENST00000277570.5	37	CCDS7085.1																																																																																				0.552	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		T	11894170	C	T	11894170	2	4	167	1	0	0	0	0	0	0	0	1	1607	680	24	2		2	C10orf47	10	11894170	Silent	SNP	C	TCGA-B0-4852-01A-01D-1501-10	11518684	11894170	123640577	32	9692											
CCAR1	55749	hgsc.bcm.edu;ucsc.edu	37	10	70520853	70520857	+	Frame_Shift_Del	DEL	TAAAG	TAAAG	-			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	TAAAG	TAAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr10:70520853_70520857delTAAAG	ENST00000265872.6	+	16	2129_2133	c.2010_2014delTAAAG	c.(2008-2016)cttaaagtafs	p.KV671fs	MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.KV656fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.KV656fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	671					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CAAAACAGCTTAAAGTAGAGGAACA	0.361																																																0																																										SO:0001589	frameshift_variant	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2010_2014delTAAAG	10.37:g.70520853_70520857delTAAAG	ENSP00000265872:p.Lys671fs		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Del	DEL	ENST00000265872.6	37	CCDS7282.1																																																																																				0.361	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		-	70520857	TAAAG	-	70520853	7	5	167	1	0	1	0	1	0	0	0	0	2732	1741	61	0	2068	0	CCAR1	10	70520853	Frame_Shift_Del	DEL	TAAAG	TCGA-B0-4852-01A-01D-1501-10	58626683	70520853	65013894	33	9693											
ITPRIP	85450	hgsc.bcm.edu	37	10	106074435	106074435	+	Missense_Mutation	SNP	G	G	A	rs145628846		TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr10:106074435G>A	ENST00000337478.1	-	2	1546	c.1375C>T	c.(1375-1377)Cac>Tac	p.H459Y	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.H459Y|ITPRIP_ENST00000278071.2_Missense_Mutation_p.H459Y	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	459						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AGCAACTCGTGCAGACGAGCG	0.632																																																0													50	54	53					10																	106074435		2203	4300	6503	SO:0001583	missense	85450			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1375C>T	10.37:g.106074435G>A	ENSP00000337178:p.His459Tyr		D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	G	9.726	1.160871	0.21538	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.07567	3.18;3.18;3.18	4.97	2.99	0.34606	.	0.861642	0.10408	N	0.678281	T	0.07143	0.0181	N	0.22421	0.69	0.09310	N	1	B	0.28178	0.202	B	0.32090	0.14	T	0.22800	-1.0206	10	0.51188	T	0.08	-7.4517	8.6195	0.33853	0.078:0.0:0.6744:0.2476	.	459	Q8IWB1	IPRI_HUMAN	Y	459	ENSP00000337178:H459Y;ENSP00000278071:H459Y;ENSP00000350915:H459Y	ENSP00000278071:H459Y	H	-	1	0	ITPRIP	106064425	0.764000	0.28473	0.858000	0.33744	0.514000	0.34195	3.807000	0.55591	2.462000	0.83206	0.561000	0.74099	CAC		0.632	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		A	106074435	G	A	106074435	3	1	167	1	0	0	0	0	1	0	0	0	7925	1319	46	2	272	2	ITPRIP	10	106074435	Missense_Mutation	SNP	G	TCGA-B0-4852-01A-01D-1501-10	35553582	106074435	29460312	34	9694											
NHLRC2	374354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	115664580	115664580	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr10:115664580C>G	ENST00000369301.3	+	10	1921	c.1709C>G	c.(1708-1710)cCc>cGc	p.P570R		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	570								p.P570R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TCCTAGCTCCCCATCTTCAGA	0.338																																																1	Substitution - Missense(1)	kidney(1)											54	53	53					10																	115664580		2203	4300	6503	SO:0001583	missense	374354			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1709C>G	10.37:g.115664580C>G	ENSP00000358307:p.Pro570Arg		Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975378	0.34848	.	.	ENSG00000196865	ENST00000369301	T	0.43688	0.94	5.79	5.79	0.91817	.	0.055226	0.64402	D	0.000001	T	0.33352	0.0860	L	0.29908	0.895	0.80722	D	1	P	0.39862	0.692	B	0.37422	0.249	T	0.04723	-1.0931	10	0.19147	T	0.46	-13.9198	18.2154	0.89884	0.0:1.0:0.0:0.0	.	570	Q8NBF2	NHLC2_HUMAN	R	570	ENSP00000358307:P570R	ENSP00000358307:P570R	P	+	2	0	NHLRC2	115654570	1.000000	0.71417	0.904000	0.35570	0.169000	0.22640	6.472000	0.73567	2.744000	0.94065	0.650000	0.86243	CCC		0.338	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		G	115664580	C	G	115664580	3	3	167	1	0	0	0	0	1	0	0	0	10408	623	22	4	1747	4	NHLRC2	10	115664580	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10	9590145	115664580	19870167	35	9695											
BUB3	9184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	124917322	124917322	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr10:124917322A>G	ENST00000368865.4	+	4	552	c.343A>G	c.(343-345)Agt>Ggt	p.S115G	BUB3_ENST00000538238.1_Missense_Mutation_p.S35G|BUB3_ENST00000368859.2_Missense_Mutation_p.S115G|BUB3_ENST00000368858.5_Missense_Mutation_p.S115G	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	115					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)		p.S115G(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GGTCACTGGAAGTTGGGATCA	0.433																																					GBM(161;1111 1985 17553 20049 26037)											2	Substitution - Missense(2)	kidney(2)											118	115	116					10																	124917322		2203	4300	6503	SO:0001583	missense	9184			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"WD repeat domain containing"	1151	protein-coding gene	gene with protein product		603719	"BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog", "budding uninhibited by benzimidazoles 3 homolog (yeast)"			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.343A>G	10.37:g.124917322A>G	ENSP00000357858:p.Ser115Gly		A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.681169	0.68042	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368859;ENST00000368858;ENST00000407911	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.219310	0.52532	D	0.000069	T	0.65575	0.2704	L	0.43152	1.355	0.80722	D	1	B;B	0.17465	0.022;0.002	B;B	0.20955	0.032;0.004	T	0.60915	-0.7168	10	0.40728	T	0.16	-5.679	16.1141	0.81289	1.0:0.0:0.0:0.0	.	115;115	O43684;O43684-2	BUB3_HUMAN;.	G	115;35;115;115;115	ENSP00000357858:S115G;ENSP00000444354:S35G;ENSP00000357852:S115G;ENSP00000357851:S115G;ENSP00000383941:S115G	ENSP00000357851:S115G	S	+	1	0	BUB3	124907312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.307000	0.96226	2.214000	0.71695	0.528000	0.53228	AGT		0.433	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1			G	124917322	A	G	124917322	3	3	167	1	0	0	0	0	1	0	0	0	1574	72	3	3	353	3	BUB3	10	124917322	Missense_Mutation	SNP	A	TCGA-B0-4852-01A-01D-1501-10	9252742	124917322	10617425	36	9696											
OR56A3	390083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5969272	5969272	+	Silent	SNP	C	C	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr11:5969272C>A	ENST00000329564.6	+	1	703	c.696C>A	c.(694-696)ctC>ctA	p.L232L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L232L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGAGACTCAAGGCAGAGG	0.517																																																1	Substitution - coding silent(1)	kidney(1)											203	198	200					11																	5969272		2186	4288	6474	SO:0001819	synonymous_variant	390083				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.696C>A	11.37:g.5969272C>A			A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	CCDS41614.1																																																																																				0.517	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		A	5969272	C	A	5969272	2	1	167	1	0	0	0	0	0	0	0	1	11136	813	29	4		4	OR56A3	11	5969272	Silent	SNP	C	TCGA-B0-4852-01A-01D-1501-10		5969272	129037244	37	9697											
RRP8	23378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6621799	6621800	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr11:6621799_6621800insT	ENST00000254605.6	-	6	1284_1285	c.1167_1168insA	c.(1165-1170)aaagtgfs	p.V390fs	RRP8_ENST00000534343.1_Frame_Shift_Ins_p.V74fs	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	390					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						ACCTCAGCCACTTTCAGGAGAC	0.525																																																0																																										SO:0001589	frameshift_variant	23378			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.1168dupA	11.37:g.6621802_6621802dupT	ENSP00000254605:p.Val390fs		Q7KZ78|Q9BVM6	Frame_Shift_Ins	INS	ENST00000254605.6	37	CCDS31411.1																																																																																				0.525	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		T	6621800	-	T	6621799	7	5	167	1	0	1	1	0	0	0	0	0	13696	565	20	0	210	0	RRP8	11	6621799	Frame_Shift_Ins	INS	-	TCGA-B0-4852-01A-01D-1501-10	652527	6621799	128384717	38	9698											
GRAMD1B	57476	hgsc.bcm.edu	37	11	123480598	123480599	+	Frame_Shift_Ins	INS	-	-	C	rs201009984|rs139670625		TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr11:123480598_123480599insC	ENST00000529750.1	+	12	1651_1652	c.1324_1325insC	c.(1324-1326)actfs	p.T442fs	GRAMD1B_ENST00000456860.2_Frame_Shift_Ins_p.T449fs|GRAMD1B_ENST00000450171.2_Frame_Shift_Ins_p.T133fs|GRAMD1B_ENST00000322282.7_Frame_Shift_Ins_p.T442fs	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	442						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GGCTCCCAAAACTGCCACTGTC	0.5																																																0																																										SO:0001589	frameshift_variant	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1325dupC	11.37:g.123480599_123480599dupC	ENSP00000436500:p.Thr442fs		Q6UW85|Q9ULL9	Frame_Shift_Ins	INS	ENST00000529750.1	37	CCDS53720.1																																																																																				0.5	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		C	123480599	-	C	123480598	7	5	167	1	0	1	1	0	0	0	0	0	6750	43	2	0	1370	0	GRAMD1B	11	123480598	Frame_Shift_Ins	INS	-	TCGA-B0-4852-01A-01D-1501-10	116858799	123480598	11525918	39	9699											
ADAMTS20	80070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	43769952	43769952	+	Splice_Site	SNP	C	C	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr12:43769952C>T	ENST00000389420.3	-	35	5220		c.e35-1			NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20						extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CACAATAAATCTAAAGAAAAA	0.303																																																2	Unknown(2)	kidney(2)											61	60	61					12																	43769952		2203	4300	6503	SO:0001630	splice_region_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5221-1G>A	12.37:g.43769952C>T			A6NNC9|J3QT00	Splice_Site	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930499	0.52866	.	.	ENSG00000173157	ENST00000389420	.	.	.	5.14	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0476	0.64714	0.0:0.9267:0.0:0.0733	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS20	42056219	1.000000	0.71417	0.582000	0.28627	0.710000	0.40934	3.361000	0.52306	1.305000	0.44909	0.650000	0.86243	.		0.303	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	Intron	T	43769952	C	T	43769952	5	4	167	1	0	0	0	0	0	0	1	0	266	927	32	2	531	2	ADAMTS20	12	43769952	Splice_Site	SNP	C	TCGA-B0-4852-01A-01D-1501-10		43769952	90081943	40	9700											
AVIL	10677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58202005	58202005	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr12:58202005A>G	ENST00000257861.3	-	10	1596	c.1166T>C	c.(1165-1167)aTg>aCg	p.M389T	AVIL_ENST00000550083.1_5'Flank|AVIL_ENST00000537081.1_Missense_Mutation_p.M382T|RNU6-1083P_ENST00000384022.1_RNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	389	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.M389T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATCATCGACCATTCTTTCCTG	0.512																																																1	Substitution - Missense(1)	kidney(1)											188	181	183					12																	58202005		2203	4300	6503	SO:0001583	missense	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1166T>C	12.37:g.58202005A>G	ENSP00000257861:p.Met389Thr		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032471	0.75504	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.32515	1.45;1.45	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.66448	-0.5921	10	0.72032	D	0.01	-32.1139	14.1407	0.65318	1.0:0.0:0.0:0.0	.	382;389	O75366-2;O75366	.;AVIL_HUMAN	T	382;389	ENSP00000443207:M382T;ENSP00000257861:M389T	ENSP00000257861:M389T	M	-	2	0	AVIL	56488272	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.062000	0.93920	2.176000	0.68965	0.379000	0.24179	ATG		0.512	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		G	58202005	A	G	58202005	3	3	167	1	0	0	0	0	1	0	0	0	1227	217	8	3	1333	3	AVIL	12	58202005	Missense_Mutation	SNP	A	TCGA-B0-4852-01A-01D-1501-10	14432053	58202005	75649890	41	9701											
TMCC3	57458	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	94975953	94975953	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr12:94975953C>A	ENST00000261226.4	-	2	571	c.440G>T	c.(439-441)gGa>gTa	p.G147V	TMCC3_ENST00000551457.1_Missense_Mutation_p.G116V	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	147						integral component of membrane (GO:0016021)		p.G147V(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCTAGAGGCTCCATTCTGCTC	0.478																																																1	Substitution - Missense(1)	kidney(1)											93	93	93					12																	94975953		2203	4300	6503	SO:0001583	missense	57458			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.440G>T	12.37:g.94975953C>A	ENSP00000261226:p.Gly147Val		Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650913	0.67472	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.44881	0.91;0.91;0.91	5.74	5.74	0.90152	.	0.089261	0.85682	D	0.000000	T	0.63236	0.2494	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55903	-0.8067	10	0.36615	T	0.2	-28.2242	20.2825	0.98528	0.0:1.0:0.0:0.0	.	147	Q9ULS5	TMCC3_HUMAN	V	147;116;116	ENSP00000261226:G147V;ENSP00000449888:G116V;ENSP00000450078:G116V	ENSP00000261226:G147V	G	-	2	0	TMCC3	93500084	0.995000	0.38212	0.710000	0.30468	0.983000	0.72400	3.471000	0.53107	2.873000	0.98535	0.561000	0.74099	GGA		0.478	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		A	94975953	C	A	94975953	3	1	167	1	0	0	0	0	1	0	0	0	15999	855	30	4	1005	4	TMCC3	12	94975953	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10	36773948	94975953	38875942	42	9702											
NTN4	59277	hgsc.bcm.edu;ucsc.edu	37	12	96107078	96107078	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr12:96107078delG	ENST00000343702.4	-	4	1351	c.903delC	c.(901-903)ggcfs	p.G301fs	NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000538383.1_Frame_Shift_Del_p.G264fs|NTN4_ENST00000344911.4_Frame_Shift_Del_p.G264fs|NTN4_ENST00000553059.1_Frame_Shift_Del_p.G301fs	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	301	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GGCAGTGGCTGCCTGCTGTGT	0.517																																																0													109	95	100					12																	96107078		2203	4300	6503	SO:0001589	frameshift_variant	59277			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.903delC	12.37:g.96107078delG	ENSP00000340998:p.Gly301fs		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Frame_Shift_Del	DEL	ENST00000343702.4	37	CCDS9054.1																																																																																				0.517	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		-	96107078	G	-	96107078	7	5	167	1	0	1	0	1	0	0	0	0	10704	1306	46	0	1011	0	NTN4	12	96107078	Frame_Shift_Del	DEL	G	TCGA-B0-4852-01A-01D-1501-10	1131125	96107078	37744817	43	9703											
RBM19	9904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	114364985	114364985	+	Silent	SNP	T	T	C			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr12:114364985T>C	ENST00000545145.2	-	17	2196	c.2118A>G	c.(2116-2118)gcA>gcG	p.A706A	RBM19_ENST00000392561.3_Silent_p.A706A|RBM19_ENST00000261741.5_Silent_p.A706A	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	706					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A706A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AAGAGTTGTCTGCTCCTTCCT	0.418																																																1	Substitution - coding silent(1)	kidney(1)											44	40	41					12																	114364985		2203	4300	6503	SO:0001819	synonymous_variant	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2118A>G	12.37:g.114364985T>C			A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																				0.418	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		C	114364985	T	C	114364985	2	2	167	1	0	0	0	0	0	0	0	1	13127	1567	55	3		3	RBM19	12	114364985	Silent	SNP	T	TCGA-B0-4852-01A-01D-1501-10	18257907	114364985	19486910	44	9704											
PCDH9	5101	broad.mit.edu;ucsc.edu	37	13	67801923	67801923	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr13:67801923G>T	ENST00000377865.2	-	1	784	c.650C>A	c.(649-651)aCc>aAc	p.T217N	PCDH9_ENST00000328454.5_Missense_Mutation_p.T217N|PCDH9_ENST00000544246.1_Missense_Mutation_p.T217N|PCDH9_ENST00000456367.1_Missense_Mutation_p.T217N|PCDH9_ENST00000377861.3_Missense_Mutation_p.T217N			Q9HC56	PCDH9_HUMAN	protocadherin 9	217	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T217N(2)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CATCACATAGGTATCTTTCTG	0.453																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											145	139	141					13																	67801923		2203	4300	6503	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.650C>A	13.37:g.67801923G>T	ENSP00000367096:p.Thr217Asn		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062885	0.36373	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	6.17	5.32	0.75619	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59128	0.2171	L	0.31065	0.9	0.58432	D	0.999997	B;D;D;D	0.89917	0.392;1.0;1.0;1.0	B;D;D;D	0.85130	0.374;0.995;0.991;0.997	T	0.63862	-0.6541	10	0.72032	D	0.01	.	16.966	0.86286	0.0:0.0:0.8712:0.1288	.	217;217;217;217	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	217	ENSP00000442186:T217N;ENSP00000367096:T217N;ENSP00000401699:T217N;ENSP00000332060:T217N;ENSP00000367092:T217N	ENSP00000332060:T217N	T	-	2	0	PCDH9	66699924	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	8.062000	0.89475	1.607000	0.50170	-0.181000	0.13052	ACC		0.453	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		T	67801923	G	T	67801923	3	4	167	1	0	0	0	0	1	0	0	0	11520	1261	44	4	3079	4	PCDH9	13	67801923	Missense_Mutation	SNP	G	TCGA-B0-4852-01A-01D-1501-10		67801923	47367955	45	9705											
KCTD12	115207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	77459423	77459423	+	Silent	SNP	C	C	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr13:77459423C>G	ENST00000377474.2	-	1	1102	c.861G>C	c.(859-861)tcG>tcC	p.S287S	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Silent_p.S287S	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	287					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)	p.S287S(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		TGTGGAAGCCCGACTCGGACA	0.632											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											48	40	43					13																	77459423		2203	4300	6503	SO:0001819	synonymous_variant	115207			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"predominantly fetal expressed T1 domain"	610521	"chromosome 13 open reading frame 2", "potassium channel tetramerisation domain containing 12"	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.861G>C	13.37:g.77459423C>G		1175		Silent	SNP	ENST00000377474.2	37	CCDS9455.1																																																																																				0.632	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		G	77459423	C	G	77459423	2	3	167	1	0	0	0	0	0	0	0	1	8101	639	23	4		4	KCTD12	13	77459423	Silent	SNP	C	TCGA-B0-4852-01A-01D-1501-10	9657500	77459423	37710455	46	9706											
SPTLC2	9517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	78045381	78045381	+	Silent	SNP	G	G	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr14:78045381G>A	ENST00000216484.2	-	3	592	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	133					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.N133N(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GCCGATTCCAGTTGTCTCTTA	0.418																																																1	Substitution - coding silent(1)	kidney(1)											88	83	85					14																	78045381		2203	4300	6503	SO:0001819	synonymous_variant	9517			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.399C>T	14.37:g.78045381G>A			Q16685	Silent	SNP	ENST00000216484.2	37	CCDS9865.1																																																																																				0.418	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		A	78045381	G	A	78045381	2	1	167	1	0	0	0	0	0	0	0	1	15129	1020	36	2		2	SPTLC2	14	78045381	Silent	SNP	G	TCGA-B0-4852-01A-01D-1501-10		78045381	29304159	47	9707											
VPS18	57617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41192166	41192166	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr15:41192166C>T	ENST00000220509.5	+	4	1489	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	384					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)	p.R384W(1)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTACACTGAGCGGGCTGTCTT	0.597																																																1	Substitution - Missense(1)	kidney(1)											62	61	61					15																	41192166		2203	4300	6503	SO:0001583	missense	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1150C>T	15.37:g.41192166C>T	ENSP00000220509:p.Arg384Trp		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033737	0.54896	.	.	ENSG00000104142	ENST00000220509	T	0.22134	1.97	5.3	5.3	0.74995	Pep3/Vps18/deep orange (1);	0.157107	0.51477	D	0.000091	T	0.39064	0.1064	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.09378	-1.0677	10	0.72032	D	0.01	-29.433	12.4906	0.55897	0.2786:0.7214:0.0:0.0	.	384	Q9P253	VPS18_HUMAN	W	384	ENSP00000220509:R384W	ENSP00000220509:R384W	R	+	1	2	VPS18	38979458	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.030000	0.41108	2.633000	0.89246	0.561000	0.74099	CGG		0.597	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			T	41192166	C	T	41192166	3	4	167	1	0	0	0	0	1	0	0	0	17199	759	27	1	1164	1	VPS18	15	41192166	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10		41192166	61339226	48	9708											
TYRO3	7301	hgsc.bcm.edu	37	15	41862436	41862436	+	Splice_Site	SNP	A	A	G	rs201371674	byFrequency	TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr15:41862436A>G	ENST00000263798.3	+	11	1606		c.e11-1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTTTTCCTTTAGGCAAGCCTT	0.587																																																0																																										SO:0001630	splice_region_variant	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1383-1A>G	15.37:g.41862436A>G			O14953|Q86VR3	Splice_Site	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862477	0.71949	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0491	0.58944	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39649728	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	7.007000	0.76335	2.208000	0.71279	0.533000	0.62120	.		0.587	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		Intron	G	41862436	A	G	41862436	5	3	167	1	0	0	0	0	0	0	1	0	16819	434	15	3	1423	3	TYRO3	15	41862436	Splice_Site	SNP	A	TCGA-B0-4852-01A-01D-1501-10	670270	41862436	60668956	49	9709											
PLA2G4D	283748	broad.mit.edu;ucsc.edu	37	15	42386652	42386652	+	Silent	SNP	C	C	T	rs148416017		TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr15:42386652C>T	ENST00000290472.3	-	1	100	c.6G>A	c.(4-6)gaG>gaA	p.E2E		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	2					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.E2E(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GTGACAGGCTCTCCATGCTAG	0.632																																																1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	116	93	101		6	0.3	0.8	15	dbSNP_134	101	0,8598		0,0,4299	no	coding-synonymous	PLA2G4D	NM_178034.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		2/819	42386652	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	283748			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.6G>A	15.37:g.42386652C>T			Q8N176	Silent	SNP	ENST00000290472.3	37	CCDS32203.1																																																																																				0.632	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		T	42386652	C	T	42386652	2	4	167	1	0	0	0	0	0	0	0	1	12006	912	32	2		2	PLA2G4D	15	42386652	Silent	SNP	C	TCGA-B0-4852-01A-01D-1501-10	524216	42386652	60144740	50	9710											
CDAN1	146059	broad.mit.edu;hgsc.bcm.edu	37	15	43021465	43021465	+	Silent	SNP	G	G	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr15:43021465G>A	ENST00000356231.3	-	18	2526	c.2503C>T	c.(2503-2505)Ctg>Ttg	p.L835L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	835					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L835L(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGGGCTCCCAGGCTGGTGGTA	0.647																																																1	Substitution - coding silent(1)	kidney(1)											34	38	37					15																	43021465		2203	4299	6502	SO:0001819	synonymous_variant	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2503C>T	15.37:g.43021465G>A			Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	ENST00000356231.3	37	CCDS32209.1																																																																																				0.647	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		A	43021465	G	A	43021465	2	1	167	1	0	0	0	0	0	0	0	1	3056	991	35	2		2	CDAN1	15	43021465	Silent	SNP	G	TCGA-B0-4852-01A-01D-1501-10	634813	43021465	59509927	51	9711											
DMXL2	23312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51741365	51741365	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr15:51741365A>G	ENST00000251076.5	-	43	9214	c.8927T>C	c.(8926-8928)cTa>cCa	p.L2976P	DMXL2_ENST00000543779.2_Missense_Mutation_p.L2977P|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.L2340P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2976						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.L2976P(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGAATGAATTAGGCCATGGCC	0.413																																																1	Substitution - Missense(1)	kidney(1)											99	90	93					15																	51741365		2196	4293	6489	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8927T>C	15.37:g.51741365A>G	ENSP00000251076:p.Leu2976Pro		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590623	0.66219	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.01313	5.02;5.02;5.02	5.6	5.6	0.85130	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.07143	0.0181	L	0.60455	1.87	0.80722	D	1	D;D;D;B	0.76494	0.999;0.998;0.999;0.343	D;D;D;P	0.85130	0.981;0.991;0.997;0.546	T	0.12967	-1.0527	10	0.54805	T	0.06	.	16.0786	0.80985	1.0:0.0:0.0:0.0	.	2977;2340;2976;2977	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	P	2976;2977;2340;542	ENSP00000251076:L2976P;ENSP00000441858:L2977P;ENSP00000400855:L2340P	ENSP00000251076:L2976P	L	-	2	0	DMXL2	49528657	1.000000	0.71417	0.211000	0.23655	0.986000	0.74619	8.859000	0.92264	2.254000	0.74563	0.460000	0.39030	CTA		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		G	51741365	A	G	51741365	3	3	167	1	0	0	0	0	1	0	0	0	4597	420	15	3	187	3	DMXL2	15	51741365	Missense_Mutation	SNP	A	TCGA-B0-4852-01A-01D-1501-10	8719900	51741365	50790027	52	9712											
DMXL2	23312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51839582	51839582	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr15:51839582C>G	ENST00000251076.5	-	7	878	c.591G>C	c.(589-591)tgG>tgC	p.W197C	DMXL2_ENST00000543779.2_Missense_Mutation_p.W197C|DMXL2_ENST00000449909.3_Missense_Mutation_p.W197C|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	197						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.W197C(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCATAGGATACCACACTTTCA	0.313																																																1	Substitution - Missense(1)	kidney(1)											77	76	76					15																	51839582		2195	4293	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.591G>C	15.37:g.51839582C>G	ENSP00000251076:p.Trp197Cys		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197312	0.58126	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	D;D;D	0.83506	-1.73;-1.73;-1.73	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94205	0.8140	H	0.95043	3.615	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.95544	0.8615	10	0.87932	D	0	.	19.3281	0.94270	0.0:1.0:0.0:0.0	.	197;197;197	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	C	197	ENSP00000251076:W197C;ENSP00000441858:W197C;ENSP00000400855:W197C	ENSP00000251076:W197C	W	-	3	0	DMXL2	49626874	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.398000	0.79919	2.588000	0.87417	0.585000	0.79938	TGG		0.313	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		G	51839582	C	G	51839582	3	3	167	1	0	0	0	0	1	0	0	0	4597	508	18	4	8670	4	DMXL2	15	51839582	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10	98217	51839582	50691810	53	9713											
FLYWCH1	84256	hgsc.bcm.edu;ucsc.edu	37	16	2983285	2983286	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr16:2983285_2983286delCA	ENST00000253928.9	+	5	1356_1357	c.951_952delCA	c.(949-954)atcaccfs	p.T318fs	FLYWCH1_ENST00000416288.2_Frame_Shift_Del_p.T317fs|FLYWCH1_ENST00000399667.2_Frame_Shift_Del_p.T318fs			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	318						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GCCGGGCCATCACCCAGGGACA	0.668																																																0																																										SO:0001589	frameshift_variant	84256			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.951_952delCA	16.37:g.2983285_2983286delCA	ENSP00000253928:p.Thr318fs		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Frame_Shift_Del	DEL	ENST00000253928.9	37																																																																																					0.668	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		-	2983286	CA	-	2983285	7	5	167	1	0	1	0	1	0	0	0	0	5949	816	29	0	958	0	FLYWCH1	16	2983285	Frame_Shift_Del	DEL	CA	TCGA-B0-4852-01A-01D-1501-10		2983285	87371468	54	9714											
OR3A2	4995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3181512	3181512	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr17:3181512C>A	ENST00000408891.2	-	1	756	c.718G>T	c.(718-720)Gtg>Ttg	p.V240L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	240					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)	p.V240L(1)		ovary(1)	1						CGGCCCTCCACTGAACGGATT	0.527																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)											1	Substitution - Missense(1)	kidney(1)											53	55	54					17																	3181512		2203	4300	6503	SO:0001583	missense	4995			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"GPCR / Class A : Olfactory receptors"	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.718G>T	17.37:g.3181512C>A	ENSP00000386180:p.Val240Leu		Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	C	5.376	0.254597	0.10185	.	.	ENSG00000221882	ENST00000408891	T	0.00054	8.8	4.9	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	1.150540	0.06726	N	0.775739	T	0.00109	0.0003	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.19549	-1.0302	10	0.51188	T	0.08	-0.9104	5.0734	0.14618	0.1477:0.6206:0.0:0.2316	.	240	P47893	OR3A2_HUMAN	L	240	ENSP00000386180:V240L	ENSP00000386180:V240L	V	-	1	0	OR3A2	3128262	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.257000	0.08745	0.324000	0.23333	0.561000	0.74099	GTG		0.527	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			A	3181512	C	A	3181512	3	1	167	1	0	0	0	0	1	0	0	0	11040	565	20	4	251	4	OR3A2	17	3181512	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10		3181512	78013698	55	9715											
ACACA	31	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35640308	35640308	+	Splice_Site	SNP	T	T	C			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr17:35640308T>C	ENST00000394406.2	-	5	551		c.e5-2		ACACA_ENST00000353139.5_Splice_Site|ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000360679.3_Splice_Site	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.?(2)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AATAAGAACCTGGGAGGGGGA	0.403																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											2	Unknown(2)	kidney(2)											61	55	57					17																	35640308		2203	4300	6503	SO:0001630	splice_region_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.361-2A>G	17.37:g.35640308T>C			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Splice_Site	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.696779	0.88830	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.226	0.82293	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACACA	32714421	1.000000	0.71417	0.915000	0.36163	0.927000	0.56198	7.932000	0.87634	2.230000	0.72887	0.528000	0.53228	.		0.403	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	Intron	C	35640308	T	C	35640308	5	2	167	1	0	0	0	0	0	0	1	0	106	1594	55	3	6889	3	ACACA	17	35640308	Splice_Site	SNP	T	TCGA-B0-4852-01A-01D-1501-10	32458796	35640308	45554902	56	9716											
NAGS	162417	broad.mit.edu	37	17	42083124	42083124	+	Silent	SNP	T	T	C			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr17:42083124T>C	ENST00000293404.3	+	2	664	c.546T>C	c.(544-546)gcT>gcC	p.A182A	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	182	Amino-acid kinase domain (AAK).				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)	p.A182A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCCTACGGCTCCCTCGGGCT	0.662																																																1	Substitution - coding silent(1)	kidney(1)											22	21	22					17																	42083124		2196	4297	6493	SO:0001819	synonymous_variant	162417			AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.546T>C	17.37:g.42083124T>C			B2RAZ9|Q8IWR4	Silent	SNP	ENST00000293404.3	37	CCDS11473.1																																																																																				0.662	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		C	42083124	T	C	42083124	2	2	167	1	0	0	0	0	0	0	0	1	10147	1538	54	3		3	NAGS	17	42083124	Silent	SNP	T	TCGA-B0-4852-01A-01D-1501-10	6442816	42083124	39112086	57	9717											
CLTC	1213	broad.mit.edu;ucsc.edu	37	17	57754361	57754361	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr17:57754361T>C	ENST00000269122.3	+	17	2882	c.2608T>C	c.(2608-2610)Tgt>Cgt	p.C870R	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.C870R|CLTC_ENST00000579815.1_3'UTR	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	870	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.C870R(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCATGAGGGCTGTGAGGAGCC	0.413			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	1	Substitution - Missense(1)	kidney(1)											54	58	57					17																	57754361		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2608T>C	17.37:g.57754361T>C	ENSP00000269122:p.Cys870Arg		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730410	0.89390	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.18016	2.24;2.24	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.57536	1.79	0.80722	D	1	D;B	0.69078	0.997;0.007	D;B	0.87578	0.998;0.123	T	0.12243	-1.0555	10	0.56958	D	0.05	.	15.5204	0.75862	0.0:0.0:0.0:1.0	.	870;870	Q00610;Q00610-2	CLH1_HUMAN;.	R	870	ENSP00000269122:C870R;ENSP00000376763:C870R	ENSP00000269122:C870R	C	+	1	0	CLTC	55109143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.946000	0.87746	2.077000	0.62373	0.455000	0.32223	TGT		0.413	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		C	57754361	T	C	57754361	3	2	167	1	0	0	0	0	1	0	0	0	3568	1580	55	3	2674	3	CLTC	17	57754361	Missense_Mutation	SNP	T	TCGA-B0-4852-01A-01D-1501-10	15671237	57754361	23440849	58	9718											
ACTG1	71	broad.mit.edu	37	17	79479120	79479120	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr17:79479120C>T	ENST00000575842.1	-	2	598	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	ACTG1_ENST00000575087.1_Missense_Mutation_p.A58T|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.A58T|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.A58T			P63261	ACTG_HUMAN	actin, gamma 1	58					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.A58T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TTGCTCTGGGCCTCGTCGCCC	0.632																																																1	Substitution - Missense(1)	kidney(1)											67	66	66					17																	79479120		2203	4300	6503	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.172G>A	17.37:g.79479120C>T	ENSP00000458162:p.Ala58Thr		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456560	0.43634	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.92149	-2.98	3.99	2.99	0.34606	Actin, conserved site (1);	0.000000	0.64402	U	0.000002	D	0.94732	0.8300	H	0.97415	4	0.47407	D	0.999413	B	0.19073	0.033	B	0.27170	0.077	D	0.93176	0.6570	10	0.87932	D	0	.	11.7036	0.51585	0.1787:0.8213:0.0:0.0	.	58	P63261	ACTG_HUMAN	T	58	ENSP00000331514:A58T	ENSP00000331514:A58T	A	-	1	0	ACTG1	77093715	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.227000	0.78070	0.859000	0.35456	0.563000	0.77884	GCC		0.632	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		T	79479120	C	T	79479120	3	4	167	1	0	0	0	0	1	0	0	0	196	739	26	2	971	2	ACTG1	17	79479120	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10	21724759	79479120	1716090	59	9719											
SERPINB11	89778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61390295	61390295	+	RNA	SNP	G	G	C			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr18:61390295G>C	ENST00000382749.5	+	0	1086				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E79Q(1)|p.E281Q(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GATGGAAAGAGAAGTTGAAGT	0.423																																					Ovarian(27;496 784 5942 8975 23930)											2	Substitution - Missense(2)	kidney(2)											43	39	40					18																	61390295		1886	4121	6007			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390295G>C			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37		.	.	.	.	.	.	.	.	.	.	G	9.102	1.004378	0.19199	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;D;D	0.84730	-1.89;-1.89;-1.89	5.05	4.18	0.49190	Serpin domain (3);	0.815699	0.10709	N	0.643045	D	0.82806	0.5117	L	0.35288	1.05	0.09310	N	1	P;D;B;P;P	0.53151	0.879;0.958;0.42;0.928;0.942	P;P;B;P;P	0.52386	0.572;0.483;0.099;0.572;0.697	T	0.70590	-0.4830	10	0.41790	T	0.15	.	6.9139	0.24349	0.278:0.0:0.722:0.0	.	106;79;194;281;281	F5GWT8;F5GY69;Q96P15-2;F5GYW9;Q96P15	.;.;.;.;SPB11_HUMAN	Q	281;79;106	ENSP00000441497:E281Q;ENSP00000440795:E79Q;ENSP00000441708:E106Q	ENSP00000421854:E281Q	E	+	1	0	SERPINB11	59541275	0.014000	0.17966	0.009000	0.14445	0.039000	0.13416	1.773000	0.38563	1.246000	0.43901	0.655000	0.94253	GAA		0.423	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		C	61390295	G	C	61390295	1	2	167	0	1	0	0	0	0	0	0	0	14104	943	33	4		4	SERPINB11	18	61390295	RNA	SNP	G	TCGA-B0-4852-01A-01D-1501-10		61390295	16686953	60	9720											
EMR3	84658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14736333	14736333	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr19:14736333T>C	ENST00000253673.5	-	15	1991	c.1891A>G	c.(1891-1893)Aag>Gag	p.K631E	EMR3_ENST00000443157.2_Missense_Mutation_p.K505E|EMR3_ENST00000599900.1_Missense_Mutation_p.K416E|EMR3_ENST00000344373.4_Missense_Mutation_p.K579E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	631					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.K631E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGACCCATCTTGCTGGAAAGT	0.388																																																1	Substitution - Missense(1)	kidney(1)											227	202	210					19																	14736333		2203	4300	6503	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1891A>G	19.37:g.14736333T>C	ENSP00000253673:p.Lys631Glu			Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	T	6.033	0.374372	0.11409	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.37584	1.19;1.19;1.19	3.79	2.73	0.32206	.	.	.	.	.	T	0.22085	0.0532	N	0.19112	0.55	0.22947	N	0.998527	P;P;B	0.38020	0.615;0.551;0.049	B;B;B	0.39258	0.155;0.295;0.028	T	0.12116	-1.0560	9	0.19590	T	0.45	.	7.0718	0.25183	0.0:0.0:0.2321:0.7679	.	505;579;631	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	E	505;631;579	ENSP00000396208:K505E;ENSP00000253673:K631E;ENSP00000340758:K579E	ENSP00000253673:K631E	K	-	1	0	EMR3	14597333	0.886000	0.30341	0.664000	0.29753	0.311000	0.27955	1.337000	0.33862	0.596000	0.29794	0.455000	0.32223	AAG		0.388	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		C	14736333	T	C	14736333	3	2	167	1	0	0	0	0	1	0	0	0	5108	1821	63	3	75	3	EMR3	19	14736333	Missense_Mutation	SNP	T	TCGA-B0-4852-01A-01D-1501-10		14736333	44392650	61	9721											
ZNF570	148268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37975687	37975687	+	Missense_Mutation	SNP	G	G	T	rs368632033		TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr19:37975687G>T	ENST00000330173.1	+	5	1692	c.1163G>T	c.(1162-1164)tGt>tTt	p.C388F	ZNF570_ENST00000586475.1_Missense_Mutation_p.C444F|ZNF570_ENST00000388801.3_Missense_Mutation_p.C185F	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C388F(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCTATGAATGTAAGGAATGT	0.408																																																1	Substitution - Missense(1)	kidney(1)											79	79	79					19																	37975687		2203	4300	6503	SO:0001583	missense	148268			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1163G>T	19.37:g.37975687G>T	ENSP00000331540:p.Cys388Phe		A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385896	0.61956	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	D;D	0.85088	-1.94;-1.94	4.17	4.17	0.49024	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	D	0.000833	D	0.95242	0.8457	H	0.98027	4.13	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97053	0.9765	10	0.87932	D	0	.	15.7538	0.78009	0.0:0.0:1.0:0.0	.	185;388	B4DMP1;Q96NI8	.;ZN570_HUMAN	F	388;185	ENSP00000331540:C388F;ENSP00000373453:C185F	ENSP00000331540:C388F	C	+	2	0	ZNF570	42667527	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.207000	0.72159	2.313000	0.78055	0.557000	0.71058	TGT		0.408	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		T	37975687	G	T	37975687	3	4	167	1	0	0	0	0	1	0	0	0	18007	1377	48	4	1177	4	ZNF570	19	37975687	Missense_Mutation	SNP	G	TCGA-B0-4852-01A-01D-1501-10	23239354	37975687	21153296	62	9722											
ERF	2077	broad.mit.edu;hgsc.bcm.edu	37	19	42753474	42753474	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr19:42753474delG	ENST00000222329.4	-	4	947	c.790delC	c.(790-792)ctcfs	p.L264fs	ERF_ENST00000440177.2_Frame_Shift_Del_p.L189fs|ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	264					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GCCGGGGAGAGCTGAGGGGGC	0.711																																																0													13	13	13					19																	42753474		2187	4258	6445	SO:0001589	frameshift_variant	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.790delC	19.37:g.42753474delG	ENSP00000222329:p.Leu264fs		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	ENST00000222329.4	37	CCDS12600.1																																																																																				0.711	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		-	42753474	G	-	42753474	7	5	167	1	0	1	0	1	0	0	0	0	5223	971	34	0	860	0	ERF	19	42753474	Frame_Shift_Del	DEL	G	TCGA-B0-4852-01A-01D-1501-10	4777787	42753474	16375509	63	9723											
C19orf75	284369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51767348	51767348	+	Splice_Site	SNP	G	G	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr19:51767348G>T	ENST00000316401.7	+	2	403	c.22G>T	c.(22-24)Gta>Tta	p.V8L	SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Splice_Site_p.G8*|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	0					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V8L(1)									GCTACAGCTGGGTAAGTAAGG	0.527																																																1	Substitution - Missense(1)	kidney(1)											140	115	123					19																	51767348		2203	4300	6503	SO:0001630	splice_region_variant	0			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 75", "sialic acid binding Ig-like lectin 23, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 7"	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.22+1G>T	19.37:g.51767348G>T			Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	G	5.857	0.342354	0.11069	.	.	ENSG00000179213	ENST00000316401	T	0.30448	1.53	2.94	0.787	0.18596	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	0.999999	B	0.19073	0.033	B	0.14023	0.01	T	0.34875	-0.9811	9	0.13108	T	0.6	-2.7619	5.1279	0.14894	0.2817:0.0:0.7183:0.0	.	8	Q8N7X8	CS075_HUMAN	L	8	ENSP00000321249:V8L	ENSP00000321249:V8L	V	+	1	0	C19orf75	56459160	0.853000	0.29707	0.170000	0.22879	0.015000	0.08874	0.960000	0.29253	0.284000	0.22305	0.650000	0.86243	GTA		0.527	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635	Missense_Mutation	T	51767348	G	T	51767348	5	4	167	1	0	0	0	0	0	0	1	0	1951	1246	43	4	24	4	C19orf75	19	51767348	Splice_Site	SNP	G	TCGA-B0-4852-01A-01D-1501-10	9013874	51767348	7361635	64	9724											
LILRA2	11027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55085805	55085805	+	Silent	SNP	C	C	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr19:55085805C>A	ENST00000251377.3	+	4	241	c.108C>A	c.(106-108)ggC>ggA	p.G36G	LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Silent_p.G36G|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.G24G|LILRA2_ENST00000391738.3_Silent_p.G36G			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	36	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G36G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGAGCCAGGCTCTGTGATCA	0.552																																																1	Substitution - coding silent(1)	kidney(1)											91	95	94					19																	55085805		2203	4300	6503	SO:0001819	synonymous_variant	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.108C>A	19.37:g.55085805C>A			O75020	Silent	SNP	ENST00000251377.3	37	CCDS46179.1																																																																																				0.552	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			A	55085805	C	A	55085805	2	1	167	1	0	0	0	0	0	0	0	1	8787	784	28	4		4	LILRA2	19	55085805	Silent	SNP	C	TCGA-B0-4852-01A-01D-1501-10	3318457	55085805	4043178	65	9725											
SLC13A3	64849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	45192089	45192089	+	Silent	SNP	G	G	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr20:45192089G>A	ENST00000279027.4	-	12	1614	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	SLC13A3_ENST00000472148.1_Silent_p.I450I|SLC13A3_ENST00000396360.1_Silent_p.I450I|SLC13A3_ENST00000290317.5_Silent_p.I485I|SLC13A3_ENST00000495082.1_Silent_p.I485I|SLC13A3_ENST00000413164.2_Silent_p.I482I|SLC13A3_ENST00000435032.1_Silent_p.I117I	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	532					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.I532I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGGCGAAGGCGATGGAGTTGG	0.632																																																1	Substitution - coding silent(1)	kidney(1)											47	41	43					20																	45192089		2203	4300	6503	SO:0001819	synonymous_variant	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1596C>T	20.37:g.45192089G>A			B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	CCDS13400.1																																																																																				0.632	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			A	45192089	G	A	45192089	2	1	167	1	0	0	0	0	0	0	0	1	14399	1048	37	1		1	SLC13A3	20	45192089	Silent	SNP	G	TCGA-B0-4852-01A-01D-1501-10		45192089	17833431	66	9726											
ZBTB46	140685	broad.mit.edu;hgsc.bcm.edu	37	20	62407316	62407316	+	Splice_Site	SNP	C	C	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr20:62407316C>T	ENST00000245663.4	-	3	1088		c.e3-1		ZBTB46_ENST00000395104.1_Splice_Site|ZBTB46_ENST00000302995.2_Splice_Site	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46						negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGGTCCGCATCTGGGGACAGA	0.617																																																1	Unknown(1)	kidney(1)											40	41	41					20																	62407316		2203	4300	6503	SO:0001630	splice_region_variant	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.938-1G>A	20.37:g.62407316C>T			E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Splice_Site	SNP	ENST00000245663.4	37	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	9.734	1.163087	0.21538	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2751	0.90080	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZBTB46	61877760	1.000000	0.71417	0.470000	0.27216	0.046000	0.14306	6.351000	0.73022	2.574000	0.86865	0.491000	0.48974	.		0.617	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224	Intron	T	62407316	C	T	62407316	5	4	167	1	0	0	0	0	0	0	1	0	17552	927	32	2	844	2	ZBTB46	20	62407316	Splice_Site	SNP	C	TCGA-B0-4852-01A-01D-1501-10	17215227	62407316	618204	67	9727											
BRWD1	54014	broad.mit.edu;ucsc.edu	37	21	40572254	40572254	+	Silent	SNP	A	A	G			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr21:40572254A>G	ENST00000333229.2	-	39	4971	c.4644T>C	c.(4642-4644)tcT>tcC	p.S1548S	BRWD1_ENST00000380800.3_Silent_p.S1548S|BRWD1_ENST00000342449.3_Silent_p.S1548S	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1548	Poly-Ser.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S1548S(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGCTTTCCTCAGAACTACTGG	0.428																																					Melanoma(170;988 1986 4794 16843 39731)											2	Substitution - coding silent(2)	kidney(2)											125	124	124					21																	40572254		2203	4300	6503	SO:0001819	synonymous_variant	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4644T>C	21.37:g.40572254A>G			C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	CCDS13662.1																																																																																				0.428	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		G	40572254	A	G	40572254	2	3	167	1	0	0	0	0	0	0	0	1	1527	175	7	3		3	BRWD1	21	40572254	Silent	SNP	A	TCGA-B0-4852-01A-01D-1501-10		40572254	7557641	68	9728											
USP18	11274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	18643020	18643020	+	Missense_Mutation	SNP	C	C	A	rs200425361		TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr22:18643020C>A	ENST00000215794.7	+	3	669	c.239C>A	c.(238-240)aCc>aAc	p.T80N		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	80	USP.				cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.T80N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GTGGACTTCACCAGGATATTG	0.423																																																1	Substitution - Missense(1)	kidney(1)											162	138	146					22																	18643020		2203	4300	6503	SO:0001583	missense	11274			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.239C>A	22.37:g.18643020C>A	ENSP00000215794:p.Thr80Asn		Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	CCDS13752.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.778419	0.31502	.	.	ENSG00000184979	ENST00000215794	T	0.30981	1.51	4.64	3.6	0.41247	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.171770	0.05996	N	0.646914	T	0.40791	0.1131	L	0.48362	1.52	0.23089	N	0.99832	P	0.44877	0.845	P	0.49332	0.607	T	0.32508	-0.9904	10	0.87932	D	0	.	10.3224	0.43773	0.0:0.7899:0.2101:0.0	.	80	Q9UMW8	UBP18_HUMAN	N	80	ENSP00000215794:T80N	ENSP00000215794:T80N	T	+	2	0	USP18	17023020	0.966000	0.33281	0.994000	0.49952	0.290000	0.27261	2.609000	0.46317	1.129000	0.42072	0.478000	0.44815	ACC		0.423	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			A	18643020	C	A	18643020	3	1	167	1	0	0	0	0	1	0	0	0	17054	507	18	4	245	4	USP18	22	18643020	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10		18643020	32661546	69	9729											
FBLN1	2192	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45928965	45928965	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chr22:45928965G>T	ENST00000327858.6	+	6	662	c.567G>T	c.(565-567)caG>caT	p.Q189H	FBLN1_ENST00000442170.2_Missense_Mutation_p.Q189H|FBLN1_ENST00000348697.2_Missense_Mutation_p.Q189H|FBLN1_ENST00000402984.3_Missense_Mutation_p.Q227H|FBLN1_ENST00000262722.7_Missense_Mutation_p.Q189H|FBLN1_ENST00000340923.5_Missense_Mutation_p.Q189H	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	189	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.Q189H(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCAAGCAGCAGTGCCGAGACA	0.627																																																3	Substitution - Missense(3)	kidney(3)											128	88	101					22																	45928965		2203	4300	6503	SO:0001583	missense	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.567G>T	22.37:g.45928965G>T	ENSP00000331544:p.Gln189His		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823288	0.50739	.	.	ENSG00000077942	ENST00000455233;ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000451475	T;T;T;T;T;T;T;T	0.71934	0.88;-0.61;1.56;1.56;1.56;1.56;1.56;-0.61	5.44	1.03	0.20045	Epidermal growth factor-like (1);	0.248513	0.42172	D	0.000758	T	0.75265	0.3826	L	0.46819	1.47	0.41129	D	0.985871	D;D;D;D	0.89917	1.0;0.998;0.997;1.0	D;D;P;D	0.91635	0.998;0.995;0.898;0.999	T	0.70718	-0.4795	10	0.41790	T	0.15	.	9.4322	0.38617	0.3511:0.0:0.6489:0.0	.	227;189;189;189	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	H	169;189;227;189;189;189;189;109	ENSP00000402963:Q169H;ENSP00000262723:Q189H;ENSP00000385521:Q227H;ENSP00000262722:Q189H;ENSP00000331544:Q189H;ENSP00000393812:Q189H;ENSP00000342212:Q189H;ENSP00000415160:Q109H	ENSP00000262722:Q189H	Q	+	3	2	FBLN1	44307629	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	1.061000	0.30542	0.024000	0.15214	0.484000	0.47621	CAG		0.627	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		T	45928965	G	T	45928965	3	4	167	1	0	0	0	0	1	0	0	0	5700	1020	36	4	589	4	FBLN1	22	45928965	Missense_Mutation	SNP	G	TCGA-B0-4852-01A-01D-1501-10	27285945	45928965	5375601	70	9730											
GLRA2	2742	broad.mit.edu;ucsc.edu	37	X	14748581	14748581	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chrX:14748581C>T	ENST00000218075.4	+	9	1863	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	GLRA2_ENST00000355020.4_Missense_Mutation_p.R445W|GLRA2_ENST00000443437.2_Missense_Mutation_p.R356W	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	445					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R445W(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	CAAGATCATTCGGCATGAAGA	0.438																																																2	Substitution - Missense(2)	kidney(2)											150	118	129					X																	14748581		2203	4300	6503	SO:0001583	missense	2742				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.1333C>T	X.37:g.14748581C>T	ENSP00000218075:p.Arg445Trp		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366413	0.41902	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	T;T;T	0.81247	-1.47;-1.47;-1.47	5.62	3.84	0.44239	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.85461	0.5702	L	0.58810	1.83	0.58432	D	0.999998	B;D;D	0.89917	0.118;1.0;1.0	B;D;D	0.79784	0.052;0.973;0.993	D	0.84018	0.0352	10	0.72032	D	0.01	.	8.0621	0.30640	0.2813:0.6448:0.0:0.0739	.	429;445;445	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	W	356;445;445	ENSP00000387756:R356W;ENSP00000218075:R445W;ENSP00000347123:R445W	ENSP00000218075:R445W	R	+	1	2	GLRA2	14658502	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.407000	0.44565	0.538000	0.28769	-0.330000	0.08379	CGG		0.438	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			T	14748581	C	T	14748581	3	4	167	1	0	0	0	0	1	0	0	0	6457	875	31	1	1439	1	GLRA2	23	14748581	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10		14748581	140521979	71	9731											
KLHL15	80311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	24007140	24007140	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chrX:24007140G>T	ENST00000328046.8	-	4	968	c.713C>A	c.(712-714)aCa>aAa	p.T238K		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	238					protein ubiquitination (GO:0016567)			p.T238K(1)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AAATTCTGATGTCTTAACCTA	0.373																																																1	Substitution - Missense(1)	kidney(1)											36	38	37					X																	24007140		2182	4275	6457	SO:0001583	missense	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.713C>A	X.37:g.24007140G>T	ENSP00000332791:p.Thr238Lys		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.850025	0.32699	.	.	ENSG00000174010	ENST00000328046	T	0.73258	-0.73	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	N	0.14661	0.345	0.80722	D	1	P	0.41673	0.759	B	0.37833	0.259	T	0.61603	-0.7029	10	0.42905	T	0.14	.	17.6255	0.88092	0.0:0.0:1.0:0.0	.	238	Q96M94	KLH15_HUMAN	K	238	ENSP00000332791:T238K	ENSP00000332791:T238K	T	-	2	0	KLHL15	23917061	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.420000	0.97426	2.178000	0.69098	0.523000	0.50628	ACA		0.373	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		T	24007140	G	T	24007140	3	4	167	1	0	0	0	0	1	0	0	0	8373	1377	48	4	1105	4	KLHL15	23	24007140	Missense_Mutation	SNP	G	TCGA-B0-4852-01A-01D-1501-10	9258559	24007140	131263420	72	9732											
UBA1	7317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	47062342	47062342	+	Splice_Site	SNP	G	G	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chrX:47062342G>A	ENST00000335972.6	+	12	1417	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T	INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Splice_Site_p.A412T|UBA1_ENST00000490869.1_3'UTR	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	412	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.A412T(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCTCTCCAGGCCTGCTCCGG	0.577																																																1	Substitution - Missense(1)	kidney(1)											52	44	47					X																	47062342		2203	4300	6503	SO:0001630	splice_region_variant	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1234-1G>A	X.37:g.47062342G>A			Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714239	0.89112	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.53857	0.6;0.6	5.42	5.42	0.78866	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	M	0.93720	3.45	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	D	0.84934	0.0861	9	.	.	.	-21.3664	17.144	0.86761	0.0:0.0:1.0:0.0	.	412	P22314	UBA1_HUMAN	T	412	ENSP00000366568:A412T;ENSP00000338413:A412T	.	A	+	1	0	UBA1	46947286	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.765000	0.98953	2.400000	0.81607	0.597000	0.82753	GCC		0.577	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	Missense_Mutation	A	47062342	G	A	47062342	5	1	167	1	0	0	0	0	0	0	1	0	16832	1217	42	2	1276	2	UBA1	23	47062342	Splice_Site	SNP	G	TCGA-B0-4852-01A-01D-1501-10	23055202	47062342	108208218	73	9733											
PCDH11X	27328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	91137907	91137907	+	Intron	SNP	C	C	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chrX:91137907C>A	ENST00000373094.1	+	2	3878				PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000395337.2_Splice_Site_p.T1012N|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000373088.1_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1012N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGTCCTAGACTGATTCCAGG	0.338																																					NSCLC(38;925 1092 2571 38200 45895)											1	Substitution - Missense(1)	kidney(1)											186	165	172					X																	91137907		2203	4299	6502	SO:0001627	intron_variant	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3033+3635C>A	X.37:g.91137907C>A			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570165	0.28003	.	.	ENSG00000102290	ENST00000395337	T	0.52295	0.67	3.64	2.77	0.32553	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.13415	-1.0510	8	0.42905	T	0.14	.	6.0254	0.19652	0.0:0.8554:0.0:0.1446	.	1012	Q9BZA7-2	.	N	1012	ENSP00000378746:T1012N	ENSP00000378746:T1012N	T	+	2	0	PCDH11X	91024563	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.515000	0.22801	0.894000	0.36317	0.523000	0.50628	ACT		0.338	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91137907	C	A	91137907	1	1	167	0	1	0	0	0	0	0	0	0	11510	579	20	4		4	PCDH11X	23	91137907	Intron	SNP	C	TCGA-B0-4852-01A-01D-1501-10	44075565	91137907	64132653	74	9734											
COL4A5	1287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107929324	107929324	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chrX:107929324G>T	ENST00000361603.2	+	46	4506	c.4262G>T	c.(4261-4263)gGg>gTg	p.G1421V	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1427V	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1421	Triple-helical region.		G -> W (in APSX; adult type). {ECO:0000269|PubMed:9452056}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G1421V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTGCAGGAGGGCGCAAAGGA	0.517									Alport syndrome with Diffuse Leiomyomatosis																																							1	Substitution - Missense(1)	kidney(1)											80	62	68					X																	107929324		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4262G>T	X.37:g.107929324G>T	ENSP00000354505:p.Gly1421Val		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.839606|4.839606	0.91117|0.91117	.|.	.|.	ENSG00000188153|ENSG00000188153	ENST00000515658|ENST00000328300;ENST00000361603;ENST00000508186	D|D;D	0.99369|0.99353	-5.78|-5.77;-5.77	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99638|0.99638	0.9867|0.9867	H|H	0.95884|0.95884	3.735|3.735	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.97593|0.97593	1.0118|1.0118	8|10	0.87932|0.87932	D|D	0|0	.|.	18.1848|18.1848	0.89789|0.89789	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1424;1421	.|E7EVY4;P29400	.|.;CO4A5_HUMAN	C|V	26|1427;1421;1427	ENSP00000423520:G26C|ENSP00000331902:G1427V;ENSP00000354505:G1421V	ENSP00000423520:G26C|ENSP00000331902:G1427V	G|G	+|+	1|2	0|0	COL4A5|COL4A5	107815980|107815980	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.507000|9.507000	0.97996|0.97996	2.318000|2.318000	0.78349|0.78349	0.600000|0.600000	0.82982|0.82982	GGC|GGG		0.517	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			T	107929324	G	T	107929324	3	4	167	1	0	0	0	0	1	0	0	0	3696	1232	43	4	4455	4	COL4A5	23	107929324	Missense_Mutation	SNP	G	TCGA-B0-4852-01A-01D-1501-10	16791417	107929324	47341236	75	9735											
OCRL	4952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	128720994	128720994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chrX:128720994C>T	ENST00000371113.4	+	20	2320	c.2155C>T	c.(2155-2157)Caa>Taa	p.Q719*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.Q711*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	719					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.Q719*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ATCCCTTCTGCAAATGGTTCC	0.423																																																1	Substitution - Nonsense(1)	kidney(1)											182	189	187					X																	128720994		2203	4300	6503	SO:0001587	stop_gained	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2155C>T	X.37:g.128720994C>T	ENSP00000360154:p.Gln719*		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Nonsense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	39	7.302291	0.98196	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	.	.	.	5.46	4.54	0.55810	.	0.467586	0.23452	N	0.048022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	13.4455	0.61138	0.0:0.8459:0.1541:0.0	.	.	.	.	X	719;711	.	ENSP00000349635:Q711X	Q	+	1	0	OCRL	128548675	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	1.751000	0.38339	2.286000	0.76751	0.594000	0.82650	CAA		0.423	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		T	128720994	C	T	128720994	4	4	167	1	0	0	0	0	0	1	0	0	10825	711	25	2	2233	2	OCRL	23	128720994	Nonsense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10	20791670	128720994	26549566	76	9736											
PRRG3	79057	broad.mit.edu;hgsc.bcm.edu	37	X	150869198	150869198	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chrX:150869198C>A	ENST00000370353.3	+	4	779	c.389C>A	c.(388-390)cCc>cAc	p.P130H	PRRG3_ENST00000538575.1_Missense_Mutation_p.P130H			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	130						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.P130H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CACACCCTCCCCCGGGTCATG	0.652																																																1	Substitution - Missense(1)	kidney(1)											62	64	64					X																	150869198		2203	4300	6503	SO:0001583	missense	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.389C>A	X.37:g.150869198C>A	ENSP00000359378:p.Pro130His		A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237067	0.79800	.	.	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98968	-5.28;-5.28	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.98479	0.9493	L	0.48642	1.525	0.49299	D	0.999773	D	0.89917	1.0	D	0.87578	0.998	D	0.98586	1.0652	9	.	.	.	-21.9768	14.3415	0.66630	0.0:1.0:0.0:0.0	.	130	Q9BZD7	TMG3_HUMAN	H	130	ENSP00000440217:P130H;ENSP00000359378:P130H	.	P	+	2	0	PRRG3	150619854	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.700000	0.74619	2.050000	0.60909	0.529000	0.55759	CCC		0.652	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		A	150869198	C	A	150869198	3	1	167	1	0	0	0	0	1	0	0	0	12612	623	22	4	399	4	PRRG3	23	150869198	Missense_Mutation	SNP	C	TCGA-B0-4852-01A-01D-1501-10	22148204	150869198	4401362	77	9737											
F8	2157	broad.mit.edu;ucsc.edu	37	X	154129670	154129670	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4852-01A-01D-1501-10	TCGA-B0-4852-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28dbeb57-c919-4f91-aa3c-7b8f3809011e	b19198c1-7ef5-4673-bb17-fbdce6183d7f	g.chrX:154129670G>A	ENST00000360256.4	-	20	6363	c.6163C>T	c.(6163-6165)Cag>Tag	p.Q2055*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2055	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.Q2055*(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCTGTAATCTGAAAATCTCTA	0.388																																																2	Substitution - Nonsense(2)	kidney(2)											116	115	115					X																	154129670		2203	4300	6503	SO:0001587	stop_gained	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6163C>T	X.37:g.154129670G>A	ENSP00000353393:p.Gln2055*		Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	48	14.713771	0.99807	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.5724	15.8005	0.78450	0.0:0.0:1.0:0.0	.	.	.	.	X	2055	.	ENSP00000353393:Q2055X	Q	-	1	0	F8	153782864	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.174000	0.89682	2.329000	0.79093	0.538000	0.68166	CAG		0.388	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			A	154129670	G	A	154129670	4	1	167	1	0	0	0	0	0	1	0	0	5352	1299	45	2	948	2	F8	23	154129670	Nonsense_Mutation	SNP	G	TCGA-B0-4852-01A-01D-1501-10	3260472	154129670	1140890	78	9738											
ARHGAP29	9411	broad.mit.edu	37	1	94649835	94649835	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr1:94649835G>A	ENST00000260526.6	-	19	2301	c.2119C>T	c.(2119-2121)Cgt>Tgt	p.R707C	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	707	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.R707C(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCACACACACGATAAATTCCC	0.284																																																1	Substitution - Missense(1)	kidney(1)											93	96	95					1																	94649835		2203	4298	6501	SO:0001583	missense	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2119C>T	1.37:g.94649835G>A	ENSP00000260526:p.Arg707Cys		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277783	0.80692	.	.	ENSG00000137962	ENST00000260526	T	0.52754	0.65	5.82	5.82	0.92795	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.37136	N	0.002235	D	0.83027	0.5165	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90382	0.4389	10	0.87932	D	0	-20.7685	20.0915	0.97822	0.0:0.0:1.0:0.0	.	707;707	F8VWZ8;Q52LW3	.;RHG29_HUMAN	C	707	ENSP00000260526:R707C	ENSP00000260526:R707C	R	-	1	0	ARHGAP29	94422423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.830000	0.69324	2.736000	0.93811	0.650000	0.86243	CGT		0.284	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		A	94649835	G	A	94649835	3	1	168	1	0	0	0	0	1	0	0	0	878	1058	37	1	1686	1	ARHGAP29	1	94649835	Missense_Mutation	SNP	G	TCGA-B0-4945-01A-01D-1421-08		94649835	154600786	1	9739											
INSRR	3645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156821582	156821582	+	Splice_Site	SNP	T	T	C			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr1:156821582T>C	ENST00000368195.3	-	4	1338		c.e4-2		NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor						actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGAATATGCTAGCAGGAGCA	0.607																																																1	Unknown(1)	kidney(1)											79	65	70					1																	156821582		2203	4300	6503	SO:0001630	splice_region_variant	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.942-2A>G	1.37:g.156821582T>C			O60724|Q5VZS3	Splice_Site	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.697190	0.68386	.	.	ENSG00000027644	ENST00000368195	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1419	0.59440	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	INSRR	155088206	1.000000	0.71417	0.914000	0.36105	0.927000	0.56198	7.710000	0.84655	1.970000	0.57323	0.379000	0.24179	.		0.607	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	Intron	C	156821582	T	C	156821582	5	2	168	1	0	0	0	0	0	0	1	0	7776	1536	53	3	3028	3	INSRR	1	156821582	Splice_Site	SNP	T	TCGA-B0-4945-01A-01D-1421-08	62171747	156821582	92429039	2	9740											
FCRL5	83416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157491077	157491077	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr1:157491077C>A	ENST00000361835.3	-	11	2402	c.2245G>T	c.(2245-2247)Gtg>Ttg	p.V749L	FCRL5_ENST00000356953.4_Missense_Mutation_p.V749L|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	749					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.V749L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGGCGAGACACCGGAACTGAA	0.498																																																1	Substitution - Missense(1)	kidney(1)											25	28	27					1																	157491077		2203	4298	6501	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2245G>T	1.37:g.157491077C>A	ENSP00000354691:p.Val749Leu		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427512	0.25726	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.02763	4.17;4.17	5.24	5.24	0.73138	.	2.377300	0.02149	N	0.057808	T	0.03263	0.0095	M	0.83774	2.66	0.80722	D	1	P;B	0.52842	0.956;0.016	B;B	0.42163	0.378;0.006	T	0.62840	-0.6769	10	0.08381	T	0.77	.	14.2019	0.65710	0.0:1.0:0.0:0.0	.	749;749	A6NJE8;Q96RD9	.;FCRL5_HUMAN	L	749	ENSP00000354691:V749L;ENSP00000349434:V749L	ENSP00000349434:V749L	V	-	1	0	FCRL5	155757701	0.997000	0.39634	0.958000	0.39756	0.038000	0.13279	1.937000	0.40193	2.717000	0.92951	0.650000	0.86243	GTG		0.498	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		A	157491077	C	A	157491077	3	1	168	1	0	0	0	0	1	0	0	0	5800	507	18	4	716	4	FCRL5	1	157491077	Missense_Mutation	SNP	C	TCGA-B0-4945-01A-01D-1421-08	669495	157491077	91759544	3	9741											
ITPKB	3707	broad.mit.edu	37	1	226836374	226836374	+	Splice_Site	SNP	T	T	C			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr1:226836374T>C	ENST00000272117.3	-	2	2030	c.2031A>G	c.(2029-2031)gcA>gcG	p.A677A	ITPKB_ENST00000429204.1_Splice_Site_p.A677A			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	677					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.A677A(1)|p.A203A(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGTGTCTACCTGCGTGTCCTG	0.542																																					Colon(84;110 1851 5306 33547)											2	Substitution - coding silent(2)	kidney(2)											151	147	148					1																	226836374		2203	4300	6503	SO:0001630	splice_region_variant	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2032+1A>G	1.37:g.226836374T>C			Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	CCDS1555.1																																																																																				0.542	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221	Silent	C	226836374	T	C	226836374	5	2	168	1	0	0	0	0	0	0	1	0	7920	1594	55	3	833	3	ITPKB	1	226836374	Splice_Site	SNP	T	TCGA-B0-4945-01A-01D-1421-08	69345297	226836374	22414247	4	9742											
SFRS7	6432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	38975784	38975784	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr2:38975784C>A	ENST00000313117.6	-	4	635	c.398G>T	c.(397-399)aGa>aTa	p.R133I	GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000446327.2_Missense_Mutation_p.R133I|SRSF7_ENST00000409276.1_Missense_Mutation_p.R133I	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	133	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R133I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGAATGTGATCTAGACCGTGA	0.403																																																1	Substitution - Missense(1)	kidney(1)											92	93	93					2																	38975784		2203	4300	6503	SO:0001583	missense	6432			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	protein-coding gene	gene with protein product	"SR splicing factor 7"	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.398G>T	2.37:g.38975784C>A	ENSP00000325905:p.Arg133Ile		B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	CCDS33183.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.36|13.36	2.213879|2.213879	0.39102|0.39102	.|.	.|.	ENSG00000115875|ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276|ENST00000452806	T;T;T|.	0.14022|.	2.55;2.54;3.02|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	D|.	0.84566|.	0.5500|.	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.995|.	D;D|.	0.78314|.	0.991;0.979|.	D|.	0.85108|.	0.0961|.	10|.	0.33141|.	T|.	0.24|.	.|.	20.3932|20.3932	0.98965|0.98965	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	133;133|.	G5E9M3;Q16629|.	.;SRSF7_HUMAN|.	I|Y	133|16	ENSP00000325905:R133I;ENSP00000402264:R133I;ENSP00000386806:R133I|.	ENSP00000325905:R133I|.	R|X	-|-	2|3	0|2	SRSF7|SRSF7	38829288|38829288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.430000|6.430000	0.73391|0.73391	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	AGA|TAG		0.403	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		A	38975784	C	A	38975784	3	1	168	1	0	0	0	0	1	0	0	0	14188	913	32	4	338	4	SFRS7	2	38975784	Missense_Mutation	SNP	C	TCGA-B0-4945-01A-01D-1421-08		38975784	204223589	5	9743											
GALNT5	11227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158167827	158167827	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr2:158167827A>T	ENST00000259056.4	+	10	3275	c.2790A>T	c.(2788-2790)caA>caT	p.Q930H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	930	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Q930H(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGCCATATCAAAAGTGGAAAT	0.318																																																1	Substitution - Missense(1)	kidney(1)											52	59	57					2																	158167827		2203	4300	6503	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2790A>T	2.37:g.158167827A>T	ENSP00000259056:p.Gln930His		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024843	0.75390	.	.	ENSG00000136542	ENST00000259056	T	0.65916	-0.18	5.93	3.59	0.41128	Ricin B-related lectin (1);Ricin B lectin (3);	0.445560	0.21726	N	0.070059	T	0.73048	0.3537	M	0.72894	2.215	0.42077	D	0.991237	D	0.89917	1.0	D	0.91635	0.999	T	0.73183	-0.4063	10	0.87932	D	0	.	4.9288	0.13907	0.6969:0.0:0.3031:0.0	.	930	Q7Z7M9	GALT5_HUMAN	H	930	ENSP00000259056:Q930H	ENSP00000259056:Q930H	Q	+	3	2	GALNT5	157876073	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	0.846000	0.27682	1.072000	0.40860	0.533000	0.62120	CAA		0.318	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		T	158167827	A	T	158167827	3	4	168	1	0	0	0	0	1	0	0	0	6218	11	1	5	2828	5	GALNT5	2	158167827	Missense_Mutation	SNP	A	TCGA-B0-4945-01A-01D-1421-08	119192043	158167827	85031546	6	9744											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191513	10191513	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr3:10191513T>C	ENST00000256474.2	+	3	1346	c.506T>C	c.(505-507)cTa>cCa	p.L169P	VHL_ENST00000345392.2_Missense_Mutation_p.L128P|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	169					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L169P(11)|p.L169fs*33(2)|p.S168fs*3(1)|p.V170fs*31(1)|p.L169_V170del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCCGGAGCCTAGTCAAGCCT	0.517		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	16	Substitution - Missense(11)|Deletion - Frameshift(4)|Deletion - In frame(1)	kidney(16)	GRCh37	CM003060	VHL	M							95	86	89					3																	10191513		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.506T>C	3.37:g.10191513T>C	ENSP00000256474:p.Leu169Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.866443	0.72065	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99856	-7.21;-7.21	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000004	D	0.99782	0.9909	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96607	0.9449	10	0.87932	D	0	-8.7798	12.7224	0.57149	0.0:0.0:0.0:1.0	.	128;169	P40337-2;P40337	.;VHL_HUMAN	P	169;128;87	ENSP00000256474:L169P;ENSP00000344757:L128P	ENSP00000256474:L169P	L	+	2	0	VHL	10166513	1.000000	0.71417	0.937000	0.37676	0.716000	0.41182	5.790000	0.69038	2.162000	0.67917	0.533000	0.62120	CTA		0.517	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10191513	T	C	10191513	3	2	168	1	0	0	0	0	1	0	0	0	17167	1522	53	3	516	3	VHL	3	10191513	Missense_Mutation	SNP	T	TCGA-B0-4945-01A-01D-1421-08		10191513	187830917	7	9745											
GRM2	2912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	51749885	51749885	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr3:51749885T>A	ENST00000395052.3	+	4	2330	c.2096T>A	c.(2095-2097)gTg>gAg	p.V699E	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	699					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.V699E(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCTGGCTGGTGGTGGAGGCA	0.662																																																1	Substitution - Missense(1)	kidney(1)											49	40	43					3																	51749885		2203	4299	6502	SO:0001583	missense	2912			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2096T>A	3.37:g.51749885T>A	ENSP00000378492:p.Val699Glu		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222482	0.79464	.	.	ENSG00000164082	ENST00000395052	D	0.89681	-2.55	5.14	5.14	0.70334	GPCR, family 3, C-terminal (2);	0.232218	0.37178	N	0.002214	D	0.88665	0.6498	L	0.55834	1.745	0.80722	D	1	P	0.38565	0.637	B	0.43701	0.428	D	0.88022	0.2769	10	0.39692	T	0.17	.	15.2689	0.73683	0.0:0.0:0.0:1.0	.	699	Q14416	GRM2_HUMAN	E	699	ENSP00000378492:V699E	ENSP00000378492:V699E	V	+	2	0	GRM2	51724925	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.257000	0.72480	2.075000	0.62263	0.448000	0.29417	GTG		0.662	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			A	51749885	T	A	51749885	3	1	168	1	0	0	0	0	1	0	0	0	6799	1696	59	5	2106	5	GRM2	3	51749885	Missense_Mutation	SNP	T	TCGA-B0-4945-01A-01D-1421-08	41558372	51749885	146272545	8	9746											
OTOP1	133060	broad.mit.edu;hgsc.bcm.edu	37	4	4199146	4199146	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr4:4199146A>C	ENST00000296358.4	-	5	1439	c.1415T>G	c.(1414-1416)aTg>aGg	p.M472R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	472					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.M472R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCAAGGGGCATGGTGTTGCC	0.542																																																1	Substitution - Missense(1)	kidney(1)											67	67	67					4																	4199146		2203	4300	6503	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1415T>G	4.37:g.4199146A>C	ENSP00000296358:p.Met472Arg		A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	A	6.348	0.432361	0.12045	.	.	ENSG00000163982	ENST00000296358	T	0.07800	3.16	4.45	-0.51	0.11973	.	1.799310	0.02363	N	0.077040	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	B	0.26809	0.16	B	0.20184	0.028	T	0.42032	-0.9475	10	0.59425	D	0.04	-9.0862	10.403	0.44241	0.6319:0.0:0.3681:0.0	.	472	Q7RTM1	OTOP1_HUMAN	R	472	ENSP00000296358:M472R	ENSP00000296358:M472R	M	-	2	0	OTOP1	4250047	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.633000	0.24598	-0.391000	0.07763	-0.585000	0.04130	ATG		0.542	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		C	4199146	A	C	4199146	3	2	168	1	0	0	0	0	1	0	0	0	11307	217	8	5	431	5	OTOP1	4	4199146	Missense_Mutation	SNP	A	TCGA-B0-4945-01A-01D-1421-08		4199146	186955130	9	9747											
LAP3	51056	broad.mit.edu	37	4	17579162	17579162	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr4:17579162G>T	ENST00000226299.4	+	1	348	c.74G>T	c.(73-75)cGg>cTg	p.R25L	LAP3_ENST00000606142.1_5'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	25					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.R25L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TTCGGGAGCCGGAGTCTCTCC	0.701																																																1	Substitution - Missense(1)	kidney(1)											21	21	21					4																	17579162		2198	4287	6485	SO:0001583	missense	51056			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.74G>T	4.37:g.17579162G>T	ENSP00000226299:p.Arg25Leu		B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	9.043	0.990127	0.18966	.	.	ENSG00000002549	ENST00000226299	T	0.42900	0.96	5.39	0.483	0.16820	.	0.476791	0.23979	N	0.042698	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09509	-1.0671	10	0.34782	T	0.22	-1.7785	2.442	0.04497	0.1613:0.2889:0.4115:0.1383	.	25	P28838	AMPL_HUMAN	L	25	ENSP00000226299:R25L	ENSP00000226299:R25L	R	+	2	0	LAP3	17188260	0.075000	0.21258	0.000000	0.03702	0.001000	0.01503	0.049000	0.14099	-0.164000	0.10927	-1.078000	0.02229	CGG		0.701	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			T	17579162	G	T	17579162	3	4	168	1	0	0	0	0	1	0	0	0	8625	1116	39	4	76	4	LAP3	4	17579162	Missense_Mutation	SNP	G	TCGA-B0-4945-01A-01D-1421-08	13380016	17579162	173575114	10	9748											
SCFD2	152579	hgsc.bcm.edu;ucsc.edu	37	4	53752026	53752026	+	Missense_Mutation	SNP	C	C	A	rs141706393	byFrequency	TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr4:53752026C>A	ENST00000401642.3	-	8	1983	c.1850G>T	c.(1849-1851)cGg>cTg	p.R617L	SCFD2_ENST00000388940.4_Missense_Mutation_p.R572L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	617					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.R617L(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGGATGAGGCCGGCTCACCTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											87	71	77					4																	53752026		2203	4300	6503	SO:0001583	missense	152579			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1850G>T	4.37:g.53752026C>A	ENSP00000384182:p.Arg617Leu		Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.068851	0.55539	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.79141	-0.96;-1.24	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	D	0.86719	0.6000	M	0.61703	1.905	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.88006	0.2759	10	0.72032	D	0.01	.	17.4297	0.87536	0.0:1.0:0.0:0.0	.	572;617	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	L	617;572	ENSP00000384182:R617L;ENSP00000373592:R572L	ENSP00000373592:R572L	R	-	2	0	SCFD2	53446783	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	5.410000	0.66381	2.373000	0.80994	0.561000	0.74099	CGG		0.498	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		A	53752026	C	A	53752026	3	1	168	1	0	0	0	0	1	0	0	0	13896	652	23	4	212	4	SCFD2	4	53752026	Missense_Mutation	SNP	C	TCGA-B0-4945-01A-01D-1421-08	36172864	53752026	137402250	11	9749											
ADAMTS3	9508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	73175164	73175164	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr4:73175164G>T	ENST00000286657.4	-	15	2165	c.2129C>A	c.(2128-2130)tCc>tAc	p.S710Y		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	710	Cys-rich.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S710Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCGGCAGTGGGAATTATCTCC	0.438																																					NSCLC(168;1941 2048 2918 13048 43078)											1	Substitution - Missense(1)	kidney(1)											147	134	139					4																	73175164		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2129C>A	4.37:g.73175164G>T	ENSP00000286657:p.Ser710Tyr		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786854	0.90367	.	.	ENSG00000156140	ENST00000286657	T	0.69306	-0.39	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.88562	0.6470	H	0.97186	3.955	0.54753	D	0.999988	D	0.89917	1.0	D	0.72338	0.977	D	0.91844	0.5486	10	0.87932	D	0	.	19.8115	0.96547	0.0:0.0:1.0:0.0	.	710	O15072	ATS3_HUMAN	Y	710	ENSP00000286657:S710Y	ENSP00000286657:S710Y	S	-	2	0	ADAMTS3	73394028	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.416000	0.97383	2.751000	0.94390	0.557000	0.71058	TCC		0.438	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			T	73175164	G	T	73175164	3	4	168	1	0	0	0	0	1	0	0	0	267	1174	41	4	1520	4	ADAMTS3	4	73175164	Missense_Mutation	SNP	G	TCGA-B0-4945-01A-01D-1421-08	19423138	73175164	117979112	12	9750											
SEC31A	22872	hgsc.bcm.edu;ucsc.edu	37	4	83800058	83800058	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr4:83800058delG	ENST00000395310.2	-	4	409	c.227delC	c.(226-228)cctfs	p.P76fs	SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.P71fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000508479.1_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.P76fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.P76fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	76					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CATTTTATAAGGCCCCCAAAT	0.318																																																0													46	45	46					4																	83800058		2203	4300	6503	SO:0001589	frameshift_variant	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.227delC	4.37:g.83800058delG	ENSP00000378721:p.Pro76fs		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	CCDS3596.1																																																																																				0.318	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		-	83800058	G	-	83800058	7	5	168	1	0	1	0	1	0	0	0	0	14004	1000	35	0	3531	0	SEC31A	4	83800058	Frame_Shift_Del	DEL	G	TCGA-B0-4945-01A-01D-1421-08	10624894	83800058	107354218	13	9751											
CDKN2AIP	55602	hgsc.bcm.edu;ucsc.edu	37	4	184368249	184368249	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr4:184368249delT	ENST00000504169.1	+	3	1619	c.1412delT	c.(1411-1413)attfs	p.I471fs	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	471	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AATGCAGCTATTGAGGCTCTG	0.398																																																0													132	137	135					4																	184368249		2203	4300	6503	SO:0001589	frameshift_variant	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1412delT	4.37:g.184368249delT	ENSP00000427108:p.Ile471fs		Q8TBM5|Q9NYH0	Frame_Shift_Del	DEL	ENST00000504169.1	37	CCDS34110.1																																																																																				0.398	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		-	184368249	T	-	184368249	7	5	168	1	0	1	0	1	0	0	0	0	3164	1493	52	0	1422	0	CDKN2AIP	4	184368249	Frame_Shift_Del	DEL	T	TCGA-B0-4945-01A-01D-1421-08	100568191	184368249	6786027	14	9752											
FCHSD1	89848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141027542	141027542	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr5:141027542A>C	ENST00000435817.2	-	8	748	c.698T>G	c.(697-699)cTg>cGg	p.L233R	FCHSD1_ENST00000522126.1_Missense_Mutation_p.L157R|FCHSD1_ENST00000522783.1_Missense_Mutation_p.L231R|FCHSD1_ENST00000519800.1_Missense_Mutation_p.L231R|FCHSD1_ENST00000523856.1_5'Flank	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	233								p.L233R(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTTGAGCAGAGCTGGCAG	0.572																																																1	Substitution - Missense(1)	kidney(1)											72	76	75					5																	141027542		1967	4159	6126	SO:0001583	missense	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.698T>G	5.37:g.141027542A>C	ENSP00000399259:p.Leu233Arg		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753357	0.69648	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783;ENST00000519800	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.48	5.48	0.80851	.	0.240661	0.29260	N	0.012670	T	0.31420	0.0796	L	0.43152	1.355	0.33469	D	0.585916	D	0.69078	0.997	D	0.64042	0.921	T	0.43972	-0.9358	10	0.72032	D	0.01	-10.0793	13.0934	0.59178	1.0:0.0:0.0:0.0	.	233	Q86WN1	FCSD1_HUMAN	R	233;157;231;231	ENSP00000399259:L233R;ENSP00000427796:L157R;ENSP00000428677:L231R;ENSP00000428776:L231R	ENSP00000399259:L233R	L	-	2	0	FCHSD1	141007726	1.000000	0.71417	0.966000	0.40874	0.942000	0.58702	6.432000	0.73400	2.084000	0.62774	0.379000	0.24179	CTG		0.572	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		C	141027542	A	C	141027542	3	2	168	1	0	0	0	0	1	0	0	0	5791	188	7	5	1426	5	FCHSD1	5	141027542	Missense_Mutation	SNP	A	TCGA-B0-4945-01A-01D-1421-08		141027542	39887718	15	9753											
WDR46	9277	broad.mit.edu;ucsc.edu	37	6	33255942	33255942	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr6:33255942T>G	ENST00000374617.4	-	5	900	c.544A>C	c.(544-546)Att>Ctt	p.I182L	PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000395131.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	182							poly(A) RNA binding (GO:0044822)	p.I182L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GCACTTGCAATGTCCACAGCC	0.522																																																1	Substitution - Missense(1)	kidney(1)											348	331	337					6																	33255942		2203	4300	6503	SO:0001583	missense	9277			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.544A>C	6.37:g.33255942T>G	ENSP00000363746:p.Ile182Leu		A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112963	0.56398	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.24151	2.0;1.87	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.14270	0.0345	L	0.46157	1.445	0.80722	D	1	P;P	0.49961	0.93;0.874	P;B	0.45138	0.471;0.279	T	0.02404	-1.1164	10	0.30078	T	0.28	-11.0961	11.4139	0.49941	0.0:0.0:0.0:1.0	.	128;182	B4DP15;O15213	.;WDR46_HUMAN	L	182;117	ENSP00000363746:I182L;ENSP00000405568:I117L	ENSP00000363746:I182L	I	-	1	0	WDR46	33363920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.471000	0.73562	1.802000	0.52723	0.368000	0.22195	ATT		0.522	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		G	33255942	T	G	33255942	3	3	168	1	0	0	0	0	1	0	0	0	17304	1464	51	5	1332	5	WDR46	6	33255942	Missense_Mutation	SNP	T	TCGA-B0-4945-01A-01D-1421-08		33255942	137859125	16	9754											
DAXX	1616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33288852	33288852	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr6:33288852G>A	ENST00000374542.5	-	3	904	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	DAXX_ENST00000266000.6_Missense_Mutation_p.R234C|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.R159C	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	234	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R234C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CCAAAGAGGCGGATCAGCTTA	0.577			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	1	Substitution - Missense(1)	kidney(1)											47	45	46					6																	33288852		2203	4300	6503	SO:0001583	missense	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.700C>T	6.37:g.33288852G>A	ENSP00000363668:p.Arg234Cys		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013874	0.35511	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.94	3.04	0.35103	.	0.222293	0.41194	D	0.000923	T	0.16171	0.0389	L	0.48362	1.52	0.47949	D	0.999554	P;P;P	0.45634	0.629;0.863;0.863	B;B;B	0.32980	0.156;0.145;0.145	T	0.08764	-1.0706	9	0.51188	T	0.08	-12.0737	3.035	0.06119	0.0983:0.1915:0.5366:0.1737	.	246;234;234	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	C	234;234;159	.	ENSP00000266000:R234C	R	-	1	0	DAXX	33396830	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.375000	0.34295	1.281000	0.44480	0.643000	0.83706	CGC		0.577	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			A	33288852	G	A	33288852	3	1	168	1	0	0	0	0	1	0	0	0	4245	1116	39	1	1546	1	DAXX	6	33288852	Missense_Mutation	SNP	G	TCGA-B0-4945-01A-01D-1421-08	32910	33288852	137826215	17	9755											
ZNF716	441234	broad.mit.edu	37	7	57529077	57529077	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr7:57529077G>A	ENST00000420713.1	+	4	1022	c.910G>A	c.(910-912)Gcc>Acc	p.A304T		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A304T(3)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATGTGGCAAAGCCTTTAGCCG	0.423																																																3	Substitution - Missense(3)	kidney(2)|skin(1)											38	38	38					7																	57529077		692	1591	2283	SO:0001583	missense	441234			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.910G>A	7.37:g.57529077G>A	ENSP00000394248:p.Ala304Thr			Missense_Mutation	SNP	ENST00000420713.1	37	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517455	0.27123	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.00848	5.62	0.109	0.109	0.14578	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00875	0.0029	N	0.11845	0.185	0.22127	N	0.999344	P	0.48230	0.907	P	0.48873	0.593	T	0.52837	-0.8522	9	0.49607	T	0.09	.	2.9432	0.05837	2.0E-4:2.0E-4:0.51:0.4896	.	292	A6NP11	ZN716_HUMAN	T	304;292	ENSP00000394248:A304T	ENSP00000387687:A292T	A	+	1	0	ZNF716	57533019	0.000000	0.05858	0.154000	0.22540	0.154000	0.21943	-0.510000	0.06328	0.181000	0.19994	0.184000	0.17185	GCC		0.423	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		A	57529077	G	A	57529077	3	1	168	1	0	0	0	0	1	0	0	0	18124	971	34	2	924	2	ZNF716	7	57529077	Missense_Mutation	SNP	G	TCGA-B0-4945-01A-01D-1421-08		57529077	101609586	18	9756											
CCDC132	55610	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92921015	92921015	+	Splice_Site	SNP	C	C	A			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr7:92921015C>A	ENST00000305866.5	+	13	1071	c.943C>A	c.(943-945)Cat>Aat	p.H315N	CCDC132_ENST00000541136.1_Splice_Site_p.H126N|CCDC132_ENST00000317751.6_Splice_Site_p.H46N|CCDC132_ENST00000544910.1_Splice_Site_p.H285N|CCDC132_ENST00000535481.1_Splice_Site_p.H35N	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	315						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.H315N(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCTTTAGCATGTTACACC	0.303																																																1	Substitution - Missense(1)	kidney(1)											79	70	73					7																	92921015		1830	4079	5909	SO:0001630	splice_region_variant	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.943-1C>A	7.37:g.92921015C>A			B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.18|10.18	1.279458|1.279458	0.23307|0.23307	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751|ENST00000458707	T|.	0.42131|.	0.98|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Vacuolar protein sorting-associated protein 54 (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.55816|0.55816	0.1944|0.1944	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	P;P;P|.	0.47253|.	0.771;0.892;0.771|.	P;B;P|.	0.45474|.	0.482;0.422;0.482|.	T|T	0.50320|0.50320	-0.8842|-0.8842	9|6	.|.	.|.	.|.	-27.9877|-27.9877	17.9099|17.9099	0.88930|0.88930	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	35;285;315|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	N|Q	315;285;126;35;46|101	ENSP00000325582:H46N|.	.|.	H|H	+|+	1|3	0|2	CCDC132|CCDC132	92758951|92758951	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.290000|0.290000	0.27261|0.27261	7.462000|7.462000	0.80851|0.80851	2.604000|2.604000	0.88044|0.88044	0.591000|0.591000	0.81541|0.81541	CAT|CAC		0.303	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	Missense_Mutation	A	92921015	C	A	92921015	5	1	168	1	0	0	0	0	0	0	1	0	2769	724	25	4	1035	4	CCDC132	7	92921015	Splice_Site	SNP	C	TCGA-B0-4945-01A-01D-1421-08	35391938	92921015	66217648	19	9757											
COG5	10466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	106924166	106924166	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr7:106924166G>A	ENST00000347053.3	-	13	1468	c.1418C>T	c.(1417-1419)gCt>gTt	p.A473V	COG5_ENST00000297135.3_Missense_Mutation_p.A473V|COG5_ENST00000393603.2_Missense_Mutation_p.A473V	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	473					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.A473V(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GTCTTTCAAAGCCTTTTCTGG	0.368																																																1	Substitution - Missense(1)	kidney(1)											112	126	121					7																	106924166		2203	4300	6503	SO:0001583	missense	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1418C>T	7.37:g.106924166G>A	ENSP00000334703:p.Ala473Val		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267615	0.40095	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.57273	0.41;0.41;0.41	5.57	4.69	0.59074	.	0.170115	0.51477	D	0.000094	T	0.43700	0.1259	L	0.45698	1.435	0.40661	D	0.982124	B;P	0.39424	0.177;0.673	B;B	0.39706	0.033;0.307	T	0.30679	-0.9970	10	0.15066	T	0.55	-17.1457	10.2464	0.43343	0.0709:0.1369:0.7922:0.0	.	473;473	Q9UP83;Q9UP83-2	COG5_HUMAN;.	V	473	ENSP00000334703:A473V;ENSP00000297135:A473V;ENSP00000377228:A473V	ENSP00000297135:A473V	A	-	2	0	COG5	106711402	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.983000	0.63832	1.473000	0.48159	0.563000	0.77884	GCT		0.368	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			A	106924166	G	A	106924166	3	1	168	1	0	0	0	0	1	0	0	0	3663	971	34	2	1208	2	COG5	7	106924166	Missense_Mutation	SNP	G	TCGA-B0-4945-01A-01D-1421-08	14003151	106924166	52214497	20	9758											
MLL3	58508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151878457	151878457	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr7:151878457G>T	ENST00000262189.6	-	36	6706	c.6488C>A	c.(6487-6489)cCt>cAt	p.P2163H	KMT2C_ENST00000355193.2_Missense_Mutation_p.P2163H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2163	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P2163H(2)									GGGAGTTCCAGGAGGTTGAGA	0.483																																																2	Substitution - Missense(2)	kidney(2)											124	130	128					7																	151878457		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6488C>A	7.37:g.151878457G>T	ENSP00000262189:p.Pro2163His		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296866	0.60086	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.89552	-2.5;-2.53	5.51	5.51	0.81932	.	0.000000	0.46145	D	0.000303	D	0.94558	0.8247	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.94909	0.8063	10	0.87932	D	0	.	18.203	0.89844	0.0:0.0:1.0:0.0	.	2163;1224	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	H	2163	ENSP00000262189:P2163H;ENSP00000347325:P2163H	ENSP00000262189:P2163H	P	-	2	0	MLL3	151509390	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.722000	0.74735	2.600000	0.87896	0.655000	0.94253	CCT		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151878457	G	T	151878457	3	4	168	1	0	0	0	0	1	0	0	0	9624	1000	35	4	8343	4	MLL3	7	151878457	Missense_Mutation	SNP	G	TCGA-B0-4945-01A-01D-1421-08	44954291	151878457	7260206	21	9759											
HINT2	84681	hgsc.bcm.edu;ucsc.edu	37	9	35813449	35813451	+	In_Frame_Del	DEL	TCT	TCT	-	rs145309300	byFrequency	TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr9:35813449_35813451delTCT	ENST00000259667.5	-	3	359_361	c.318_320delAGA	c.(316-321)gaagac>gac	p.E106del	SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000340291.2_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000396638.2_5'Flank|TMEM8B_ENST00000377996.1_5'Flank|HINT2_ENST00000474908.1_5'UTR|SPAG8_ENST00000484764.1_5'Flank	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	106	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				apoptotic process (GO:0006915)|steroid biosynthetic process (GO:0006694)	mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CACCTGCTGGTCTTCTTCTTCAG	0.576											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(185;1694 2122 5473 25431 37228)											0										2,4262		0,2,2130						0.4	1			62	0,8254		0,0,4127	no	coding	HINT2	NM_032593.2		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016				2,12516				SO:0001651	inframe_deletion	84681			AY033094	CCDS6594.1	9p11.2	2005-12-20			ENSG00000137133	ENSG00000137133			18344	protein-coding gene	gene with protein product		609997					Standard	NM_032593		Approved		uc003zyh.3	Q9BX68	OTTHUMG00000019886	ENST00000259667.5:c.318_320delAGA	9.37:g.35813455_35813457delTCT	ENSP00000259667:p.Glu106del	858	Q5TCW3	In_Frame_Del	DEL	ENST00000259667.5	37	CCDS6594.1																																																																																				0.576	HINT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052390.1	NM_032593		-	35813451	TCT	-	35813449	7	5	168	1	0	1	0	1	0	0	0	0	7114	1667	58	0	183	0	HINT2	9	35813449	In_Frame_Del	DEL	TCT	TCGA-B0-4945-01A-01D-1421-08		35813449	105399982	22	9760											
HSPA5	3309	broad.mit.edu;hgsc.bcm.edu	37	9	128001354	128001354	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr9:128001354G>C	ENST00000324460.6	-	5	1065	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	288					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.L288V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TCGCGCCGGAGTTTCTGCACA	0.458										Prostate(1;0.17)																																						1	Substitution - Missense(1)	kidney(1)											81	81	81					9																	128001354		2203	4300	6503	SO:0001583	missense	3309				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.862C>G	9.37:g.128001354G>C	ENSP00000324173:p.Leu288Val		B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527132	0.64860	.	.	ENSG00000044574	ENST00000324460	T	0.01787	4.64	4.16	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.00364	-1.1787	10	0.87932	D	0	-25.0776	10.3362	0.43852	0.0975:0.0:0.9025:0.0	.	288	P11021	GRP78_HUMAN	V	288	ENSP00000324173:L288V	ENSP00000324173:L288V	L	-	1	0	HSPA5	127041175	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	4.875000	0.63072	1.864000	0.54056	0.462000	0.41574	CTC		0.458	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			C	128001354	G	C	128001354	3	2	168	1	0	0	0	0	1	0	0	0	7416	1029	36	4	1118	4	HSPA5	9	128001354	Missense_Mutation	SNP	G	TCGA-B0-4945-01A-01D-1421-08	92187905	128001354	13212077	23	9761											
AGAP6	414189	broad.mit.edu	37	10	51769499	51769499	+	Silent	SNP	C	C	T			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr10:51769499C>T	ENST00000374056.4	+	7	1943	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	AGAP6_ENST00000412531.3_Silent_p.D538D			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	515	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.D538D(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TTGTCAATGACCTAGCCAACA	0.542																																																1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	414189				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1545C>T	10.37:g.51769499C>T				Silent	SNP	ENST00000374056.4	37																																																																																					0.542	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		T	51769499	C	T	51769499	2	4	168	1	0	0	0	0	0	0	0	1	372	506	18	2		2	AGAP6	10	51769499	Silent	SNP	C	TCGA-B0-4945-01A-01D-1421-08		51769499	83765248	24	9762											
SMC3	9126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	112340772	112340772	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr10:112340772A>T	ENST00000361804.4	+	8	666	c.540A>T	c.(538-540)aaA>aaT	p.K180N	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	180					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.K180N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CCTTAATGAAAGAAACAGGTA	0.368																																																1	Substitution - Missense(1)	kidney(1)											84	84	84					10																	112340772		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.540A>T	10.37:g.112340772A>T	ENSP00000354720:p.Lys180Asn		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157685	0.78114	.	.	ENSG00000108055	ENST00000361804	T	0.76186	-1.0	5.33	3.01	0.34805	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	N	0.20986	0.625	0.80722	D	1	D	0.67145	0.996	P	0.61658	0.892	T	0.63603	-0.6600	10	0.22109	T	0.4	.	8.8553	0.35225	0.8435:0.0:0.1565:0.0	.	180	Q9UQE7	SMC3_HUMAN	N	180	ENSP00000354720:K180N	ENSP00000354720:K180N	K	+	3	2	SMC3	112330762	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.191000	0.42640	0.447000	0.26695	0.472000	0.43445	AAA		0.368	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		T	112340772	A	T	112340772	3	4	168	1	0	0	0	0	1	0	0	0	14790	69	3	5	570	5	SMC3	10	112340772	Missense_Mutation	SNP	A	TCGA-B0-4945-01A-01D-1421-08	60571273	112340772	23193975	25	9763											
ZRANB1	54764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	126671767	126671767	+	Silent	SNP	G	G	A	rs75293113	byFrequency	TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr10:126671767G>A	ENST00000359653.4	+	7	1943	c.1572G>A	c.(1570-1572)acG>acA	p.T524T	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	524	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.T524T(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGGAGCAGACGCACATTTTTG	0.363																																																1	Substitution - coding silent(1)	kidney(1)											96	102	100					10																	126671767		2203	4300	6503	SO:0001819	synonymous_variant	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1572G>A	10.37:g.126671767G>A			B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Silent	SNP	ENST00000359653.4	37	CCDS7642.1																																																																																				0.363	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		A	126671767	G	A	126671767	2	1	168	1	0	0	0	0	0	0	0	1	18227	1074	38	1		1	ZRANB1	10	126671767	Silent	SNP	G	TCGA-B0-4945-01A-01D-1421-08	14330995	126671767	8862980	26	9764											
ARHGAP32	9743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	129062035	129062035	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr11:129062035G>A	ENST00000310343.9	-	1	58	c.59C>T	c.(58-60)tCt>tTt	p.S20F		NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	20					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.S20F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TATAACTTCAGACTCCAACCA	0.423																																																1	Substitution - Missense(1)	kidney(1)											291	269	275					11																	129062035		1566	3579	5145	SO:0001583	missense	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.59C>T	11.37:g.129062035G>A	ENSP00000310561:p.Ser20Phe		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	5.388	0.256808	0.10185	.	.	ENSG00000134909	ENST00000310343	T	0.09350	2.99	4.98	3.1	0.35709	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.18873	N	0.999983	B	0.25719	0.132	B	0.24701	0.055	T	0.34527	-0.9825	9	0.87932	D	0	.	7.1798	0.25765	0.092:0.171:0.7369:0.0	.	20	A7KAX9	RHG32_HUMAN	F	20	ENSP00000310561:S20F	ENSP00000310561:S20F	S	-	2	0	ARHGAP32	128567245	0.013000	0.17824	0.028000	0.17463	0.060000	0.15804	0.938000	0.28965	0.784000	0.33661	-0.136000	0.14681	TCT		0.423	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		A	129062035	G	A	129062035	3	1	168	1	0	0	0	0	1	0	0	0	881	942	33	2	6292	2	ARHGAP32	11	129062035	Missense_Mutation	SNP	G	TCGA-B0-4945-01A-01D-1421-08		129062035	5944481	27	9765											
DDX23	9416	hgsc.bcm.edu	37	12	49233688	49233689	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr12:49233688_49233689insG	ENST00000308025.3	-	5	497_498	c.418_419insC	c.(418-420)cagfs	p.Q140fs	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	140	Glu-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GGATAATGGCTGGGCCTGAAGA	0.455																																																0																																										SO:0001589	frameshift_variant	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.419dupC	12.37:g.49233691_49233691dupG	ENSP00000310723:p.Gln140fs		B2R600|B4DH15|O43188	Frame_Shift_Ins	INS	ENST00000308025.3	37	CCDS8770.1																																																																																				0.455	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		G	49233689	-	G	49233688	7	5	168	1	0	1	1	0	0	0	0	0	4352	1580	55	0	2095	0	DDX23	12	49233688	Frame_Shift_Ins	INS	-	TCGA-B0-4945-01A-01D-1421-08		49233688	84618207	28	9766											
RIC8B	55188	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	107237651	107237651	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr12:107237651C>G	ENST00000392839.2	+	6	1193	c.1087C>G	c.(1087-1089)Cta>Gta	p.L363V	RIC8B_ENST00000355478.2_Missense_Mutation_p.L323V|RIC8B_ENST00000392837.4_Missense_Mutation_p.L363V|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	363					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.L363V(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TAGAGAGGGTCTAACTCCAGT	0.353																																																1	Substitution - Missense(1)	kidney(1)											102	97	99					12																	107237651		2203	4300	6503	SO:0001583	missense	55188			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1087C>G	12.37:g.107237651C>G	ENSP00000376583:p.Leu363Val		A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696162	0.68386	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478	T;T;T	0.50277	0.75;0.75;0.75	5.51	5.51	0.81932	Synembryn (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	L	0.52266	1.64	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.87578	0.996;0.997;0.998	T	0.53760	-0.8393	10	0.13853	T	0.58	-3.1333	19.415	0.94690	0.0:1.0:0.0:0.0	.	323;363;363	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	V	363;363;323	ENSP00000376582:L363V;ENSP00000376583:L363V;ENSP00000347662:L323V	ENSP00000347662:L323V	L	+	1	2	RIC8B	105761781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.689000	0.61723	2.583000	0.87209	0.557000	0.71058	CTA		0.353	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		G	107237651	C	G	107237651	3	3	168	1	0	0	0	0	1	0	0	0	13362	912	32	4	1109	4	RIC8B	12	107237651	Missense_Mutation	SNP	C	TCGA-B0-4945-01A-01D-1421-08	58003963	107237651	26614244	29	9767											
TMEM132D	121256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	129559305	129559305	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr12:129559305G>T	ENST00000422113.2	-	9	2741	c.2415C>A	c.(2413-2415)aaC>aaA	p.N805K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.N343K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	805					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.N805K(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGTCACTGGTGTTGGGGTTAG	0.483																																																1	Substitution - Missense(1)	kidney(1)											179	143	155					12																	129559305		2203	4300	6503	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2415C>A	12.37:g.129559305G>T	ENSP00000408581:p.Asn805Lys		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	0.326	-0.958852	0.02267	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13089	2.62;2.62	4.2	0.102	0.14522	.	1.429480	0.04278	N	0.343274	T	0.10465	0.0256	L	0.32530	0.975	0.09310	N	1	B;P	0.39282	0.047;0.666	B;B	0.33454	0.02;0.164	T	0.34925	-0.9809	9	.	.	.	-45.0579	8.1504	0.31137	0.3358:0.0:0.6642:0.0	.	805;343	Q14C87;Q14C87-2	T132D_HUMAN;.	K	343;805	ENSP00000374092:N343K;ENSP00000408581:N805K	.	N	-	3	2	TMEM132D	128125258	0.002000	0.14202	0.069000	0.20011	0.380000	0.30137	0.017000	0.13399	-0.226000	0.09899	0.462000	0.41574	AAC		0.483	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129559305	G	T	129559305	3	4	168	1	0	0	0	0	1	0	0	0	16052	1368	48	4	888	4	TMEM132D	12	129559305	Missense_Mutation	SNP	G	TCGA-B0-4945-01A-01D-1421-08	22321654	129559305	4292590	30	9768											
C14orf2	9556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	104381489	104381489	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr14:104381489A>G	ENST00000554880.1	-	2	191	c.38T>C	c.(37-39)aTg>aCg	p.M13T	C14orf2_ENST00000553430.1_Missense_Mutation_p.M13T|C14orf2_ENST00000553449.1_Intron|C14orf2_ENST00000557040.1_Missense_Mutation_p.M13T|C14orf2_ENST00000554713.1_Missense_Mutation_p.M13T|C14orf2_ENST00000555030.1_Missense_Mutation_p.M13T|C14orf2_ENST00000414262.2_Missense_Mutation_p.M30T|C14orf2_ENST00000286953.3_Missense_Mutation_p.M13T			P56378	68MP_HUMAN	chromosome 14 open reading frame 2	13						integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)		p.M30T(1)|p.M13T(1)		kidney(1)	1				Epithelial(152;0.223)		GTAGGGCTTCATGGGGATCCA	0.373																																																2	Substitution - Missense(2)	kidney(2)											89	88	88					14																	104381489		2203	4300	6503	SO:0001583	missense	9556			AF054175	CCDS9986.1, CCDS45169.1	14q32.33	2013-02-18			ENSG00000156411	ENSG00000156411			1188	protein-coding gene	gene with protein product	"6.8 kDa mitochondrial proteolipid"	604573				9653160	Standard	NM_001127393		Approved	MP68	uc001yoi.4	P56378	OTTHUMG00000171601	ENST00000554880.1:c.38T>C	14.37:g.104381489A>G	ENSP00000452133:p.Met13Thr		B2R588|G3V5Q3|Q86TT7	Missense_Mutation	SNP	ENST00000554880.1	37	CCDS9986.1	.	.	.	.	.	.	.	.	.	.	A	7.074	0.568961	0.13560	.	.	ENSG00000156411	ENST00000286953;ENST00000554880;ENST00000555030;ENST00000414262;ENST00000553430;ENST00000557040;ENST00000554713	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.5	4.35	0.52113	.	0.310670	0.27151	N	0.020683	T	0.40145	0.1105	.	.	.	0.31876	N	0.61914	B;B;P	0.36354	0.026;0.017;0.549	B;B;B	0.34038	0.015;0.007;0.174	T	0.50668	-0.8801	9	0.45353	T	0.12	.	8.283	0.31910	0.9098:0.0:0.0902:0.0	.	13;13;13	G3V556;G3V5Q3;P56378	.;.;68MP_HUMAN	T	13;13;13;30;13;13;13	ENSP00000286953:M13T;ENSP00000452133:M13T;ENSP00000452186:M13T;ENSP00000401770:M30T;ENSP00000452462:M13T;ENSP00000450894:M13T;ENSP00000451500:M13T	ENSP00000286953:M13T	M	-	2	0	C14orf2	103451242	0.997000	0.39634	0.973000	0.42090	0.075000	0.17131	4.451000	0.60047	0.906000	0.36621	0.533000	0.62120	ATG		0.373	C14orf2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414398.1	NM_001127393		G	104381489	A	G	104381489	3	3	168	1	0	0	0	0	1	0	0	0	1770	217	8	3	150	3	C14orf2	14	104381489	Missense_Mutation	SNP	A	TCGA-B0-4945-01A-01D-1421-08		104381489	2968051	31	9769											
PLA2G4D	283748	hgsc.bcm.edu	37	15	42363043	42363043	+	Missense_Mutation	SNP	T	T	G	rs74678783	byFrequency	TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr15:42363043T>G	ENST00000290472.3	-	18	2009	c.1915A>C	c.(1915-1917)Aag>Cag	p.K639Q		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	639	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGGGCTCCTTGGGGGTCAGC	0.632													G|||	222	0.0443291	0.0144	0.0749	5008	,	,		17980	0.0		0.1083	False		,,,				2504	0.0429															0								G	GLN/LYS	142,4264		1,140,2062	61	65	64		1915	3	0.9	15	dbSNP_131	64	853,7745		43,767,3489	yes	missense	PLA2G4D	NM_178034.3	53	44,907,5551	GG,GT,TT		9.9209,3.2229,7.6515	benign	639/819	42363043	995,12009	2203	4299	6502	SO:0001583	missense	283748			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1915A>C	15.37:g.42363043T>G	ENSP00000290472:p.Lys639Gln		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	CCDS32203.1	128	0.05860805860805861	10	0.02032520325203252	31	0.0856353591160221	0	0.0	87	0.11477572559366754	G	0.496	-0.873328	0.02570	0.032229	0.099209	ENSG00000159337	ENST00000290472	T	0.10288	2.89	4.85	2.95	0.34219	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	1.129710	0.06570	N	0.748353	T	0.00073	0.0002	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.11485	T	0.65	-3.982	2.0561	0.03582	0.2199:0.1405:0.4948:0.1447	.	639	Q86XP0	PA24D_HUMAN	Q	639	ENSP00000290472:K639Q	ENSP00000290472:K639Q	K	-	1	0	PLA2G4D	40150335	0.000000	0.05858	0.864000	0.33941	0.260000	0.26232	0.081000	0.14823	0.253000	0.21552	-0.143000	0.13931	AAG		0.632	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		G	42363043	T	G	42363043	3	3	168	1	0	0	0	0	1	0	0	0	12006	1821	63	5	553	5	PLA2G4D	15	42363043	Missense_Mutation	SNP	T	TCGA-B0-4945-01A-01D-1421-08		42363043	60168349	32	9770											
MPP3	4356	broad.mit.edu	37	17	41898423	41898423	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr17:41898423A>T	ENST00000398389.4	-	11	853	c.688T>A	c.(688-690)Ttc>Atc	p.F230I	MPP3_ENST00000398393.1_Missense_Mutation_p.F255I	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	230	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)	p.F230I(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCGCGCATGAACACCTGCACA	0.627																																																1	Substitution - Missense(1)	kidney(1)											24	28	26					17																	41898423		2013	4164	6177	SO:0001583	missense	4356				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.688T>A	17.37:g.41898423A>T	ENSP00000381425:p.Phe230Ile		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.944466	0.92593	.	.	ENSG00000161647	ENST00000398393;ENST00000398389;ENST00000356492	T;T	0.08370	3.1;3.1	4.57	4.57	0.56435	Src homology-3 domain (3);Variant SH3 (1);	0.121027	0.64402	D	0.000016	T	0.30479	0.0766	M	0.84156	2.68	0.53688	D	0.999978	P;D;D	0.67145	0.92;0.996;0.996	P;D;D	0.70016	0.652;0.967;0.967	T	0.10520	-1.0626	10	0.66056	D	0.02	.	14.1216	0.65192	1.0:0.0:0.0:0.0	.	255;230;255	B4DS20;Q13368;D3DX46	.;MPP3_HUMAN;.	I	255;230;255	ENSP00000381430:F255I;ENSP00000381425:F230I	ENSP00000348885:F255I	F	-	1	0	MPP3	39253949	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.139000	0.94554	1.928000	0.55862	0.459000	0.35465	TTC		0.627	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		T	41898423	A	T	41898423	3	4	168	1	0	0	0	0	1	0	0	0	9737	43	2	5	1109	5	MPP3	17	41898423	Missense_Mutation	SNP	A	TCGA-B0-4945-01A-01D-1421-08		41898423	39296787	33	9771											
TCF3	6929	broad.mit.edu	37	19	1623968	1623968	+	Silent	SNP	C	C	T	rs199702817		TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr19:1623968C>T	ENST00000262965.5	-	8	875	c.531G>A	c.(529-531)ccG>ccA	p.P177P	TCF3_ENST00000395423.3_Silent_p.P126P|TCF3_ENST00000588136.1_Silent_p.P177P|TCF3_ENST00000344749.5_Silent_p.P177P|TCF3_ENST00000453954.2_Silent_p.P93P	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P177P(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGACCCGGCGGGACCTTCC	0.632			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	1	0.000199681	0.0	0.0014	5008	,	,		16329	0.0		0.0	False		,,,				2504	0.0						Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	2	Substitution - coding silent(2)	kidney(2)											55	58	57					19																	1623968		2202	4300	6502	SO:0001819	synonymous_variant	6929			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.531G>A	19.37:g.1623968C>T			Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																				0.632	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		T	1623968	C	T	1623968	2	4	168	1	0	0	0	0	0	0	0	1	15699	755	27	1		1	TCF3	19	1623968	Silent	SNP	C	TCGA-B0-4945-01A-01D-1421-08		1623968	57505015	34	9772											
UBA2	10054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	34959981	34959981	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr19:34959981A>C	ENST00000246548.4	+	17	1848	c.1778A>C	c.(1777-1779)gAt>gCt	p.D593A	UBA2_ENST00000439527.2_Missense_Mutation_p.D497A|UBA2_ENST00000592791.1_Missense_Mutation_p.D119A|UBA2_ENST00000588585.1_3'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	593					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.D593A(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GTTGATTCAGATGAAGAAGAT	0.413																																																1	Substitution - Missense(1)	kidney(1)											35	33	34					19																	34959981		2203	4300	6503	SO:0001583	missense	10054			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1778A>C	19.37:g.34959981A>C	ENSP00000246548:p.Asp593Ala		B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.678312	0.29783	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.59224	0.28;1.44	5.8	5.8	0.92144	.	0.095414	0.64402	D	0.000001	T	0.53498	0.1800	L	0.51422	1.61	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.49163	-0.8968	10	0.41790	T	0.15	-21.3697	15.1198	0.72434	1.0:0.0:0.0:0.0	.	593	Q9UBT2	SAE2_HUMAN	A	593;497	ENSP00000246548:D593A;ENSP00000437484:D497A	ENSP00000246548:D593A	D	+	2	0	UBA2	39651821	1.000000	0.71417	0.994000	0.49952	0.370000	0.29829	5.515000	0.67049	2.207000	0.71202	0.455000	0.32223	GAT		0.413	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		C	34959981	A	C	34959981	3	2	168	1	0	0	0	0	1	0	0	0	16833	333	12	5	1844	5	UBA2	19	34959981	Missense_Mutation	SNP	A	TCGA-B0-4945-01A-01D-1421-08	33336013	34959981	24169002	35	9773											
PTGIR	5739	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47124908	47124908	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr19:47124908C>G	ENST00000291294.2	-	3	923	c.790G>C	c.(790-792)Gtc>Ctc	p.V264L	PTGIR_ENST00000597185.1_5'UTR|PTGIR_ENST00000598865.1_Missense_Mutation_p.V52L|PTGIR_ENST00000594275.1_Missense_Mutation_p.V21L	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	264					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.V264L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	TCAGGGGCGACAGCCTGGGTG	0.632																																																1	Substitution - Missense(1)	kidney(1)											34	31	32					19																	47124908		2149	4213	6362	SO:0001583	missense	5739				CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.790G>C	19.37:g.47124908C>G	ENSP00000291294:p.Val264Leu			Missense_Mutation	SNP	ENST00000291294.2	37	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.026761	0.02045	.	.	ENSG00000160013	ENST00000291294	T	0.33654	1.4	4.39	1.03	0.20045	GPCR, rhodopsin-like superfamily (1);	0.378221	0.25086	N	0.033255	T	0.08891	0.0220	N	0.00554	-1.385	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.35649	-0.9780	10	0.15066	T	0.55	-23.7801	6.8264	0.23885	0.0:0.3524:0.0:0.6476	.	264	P43119	PI2R_HUMAN	L	264	ENSP00000291294:V264L	ENSP00000291294:V264L	V	-	1	0	PTGIR	51816748	0.000000	0.05858	0.993000	0.49108	0.399000	0.30720	-1.376000	0.02561	-0.040000	0.13580	-0.367000	0.07326	GTC		0.632	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			G	47124908	C	G	47124908	3	3	168	1	0	0	0	0	1	0	0	0	12757	478	17	4	374	4	PTGIR	19	47124908	Missense_Mutation	SNP	C	TCGA-B0-4945-01A-01D-1421-08	12164927	47124908	12004075	36	9774											
PABPC1L	80336	broad.mit.edu	37	20	43564119	43564119	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr20:43564119C>A	ENST00000217073.2	+	11	1532	c.1532C>A	c.(1531-1533)gCa>gAa	p.A511E	PABPC1L_ENST00000217075.2_Missense_Mutation_p.A65E|PABPC1L_ENST00000255136.3_Missense_Mutation_p.A511E|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000372824.1_Missense_Mutation_p.A65E|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000372819.1_Missense_Mutation_p.A65E			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	511					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A511E(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TGTTCCTCAGCAGCACATAGC	0.587																																																1	Substitution - Missense(1)	kidney(1)											44	43	44					20																	43564119		1568	3582	5150	SO:0001583	missense	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1532C>A	20.37:g.43564119C>A	ENSP00000217073:p.Ala511Glu		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	CCDS42878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.352|7.352	0.623104|0.623104	0.14193|0.14193	.|.	.|.	ENSG00000101104|ENSG00000101104	ENST00000255136;ENST00000421240;ENST00000372821;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075;ENST00000372822|ENST00000372826	T;T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94;0.94|.	4.73|4.73	2.72|2.72	0.32119|0.32119	Polyadenylate-binding protein/Hyperplastic disc protein (1);|.	0.374594|.	0.32328|.	N|.	0.006244|.	T|T	0.21227|0.21227	0.0511|0.0511	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.32653|.	0.006;0.379|.	B;B|.	0.30029|.	0.005;0.11|.	T|T	0.23013|0.23013	-1.0200|-1.0200	10|5	0.15952|.	T|.	0.53|.	.|.	7.5279|7.5279	0.27666|0.27666	0.1784:0.6167:0.2048:0.0|0.1784:0.6167:0.2048:0.0	.|.	511;65|.	Q4VXU2;G5E9L3|.	PAP1L_HUMAN;.|.	E|K	511;65;65;511;65;65;65;6|47	ENSP00000255136:A511E;ENSP00000217073:A511E;ENSP00000361911:A65E;ENSP00000361906:A65E;ENSP00000217075:A65E;ENSP00000361909:A6E|.	ENSP00000217073:A511E|.	A|Q	+|+	2|1	0|0	PABPC1L|PABPC1L	42997533|42997533	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.025000|0.025000	0.11179|0.11179	0.664000|0.664000	0.25068|0.25068	0.659000|0.659000	0.30945|0.30945	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.587	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			A	43564119	C	A	43564119	3	1	168	1	0	0	0	0	1	0	0	0	11366	710	25	4	1574	4	PABPC1L	20	43564119	Missense_Mutation	SNP	C	TCGA-B0-4945-01A-01D-1421-08		43564119	19461401	37	9775											
RIMBP3	85376	hgsc.bcm.edu	37	22	20458121	20458122	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr22:20458121_20458122insC	ENST00000426804.1	-	1	3664_3665	c.3180_3181insG	c.(3178-3183)ctgccafs	p.P1061fs	SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1061	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AAGTCCCGTGGCAGCCGCACCT	0.653																																																0																																										SO:0001589	frameshift_variant	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3181dupG	22.37:g.20458122_20458122dupC	ENSP00000391564:p.Pro1061fs		Q8IYP7|Q9BY94|Q9UFQ5	Frame_Shift_Ins	INS	ENST00000426804.1	37	CCDS46665.1																																																																																				0.653	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		C	20458122	-	C	20458121	7	5	168	1	0	1	1	0	0	0	0	0	13370	1203	42	0	1742	0	RIMBP3	22	20458121	Frame_Shift_Ins	INS	-	TCGA-B0-4945-01A-01D-1421-08		20458121	30846445	38	9776											
LIMK2	3985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	31664140	31664140	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chr22:31664140C>T	ENST00000331728.4	+	11	1385	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	LIMK2_ENST00000340552.4_Missense_Mutation_p.P403L|LIMK2_ENST00000333611.4_Missense_Mutation_p.P403L|LIMK2_ENST00000406516.1_Missense_Mutation_p.P346L|LIMK2_ENST00000444929.2_Missense_Mutation_p.P178L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	424	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.P403L(1)|p.P424L(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GATCCGTTCCCCTGGCAGCAG	0.577																																																2	Substitution - Missense(2)	kidney(2)											106	102	104					22																	31664140		2203	4300	6503	SO:0001583	missense	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1271C>T	22.37:g.31664140C>T	ENSP00000332687:p.Pro424Leu		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	33	5.251345	0.95305	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049715	0.85682	D	0.000000	D	0.93848	0.8032	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.982	D;D;D;D;P	0.79784	0.988;0.993;0.982;0.987;0.864	D	0.93812	0.7111	10	0.87932	D	0	-32.843	19.3095	0.94179	0.0:1.0:0.0:0.0	.	456;403;178;424;346	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	L	346;178;424;456;403;403	ENSP00000384602:P346L;ENSP00000409522:P178L;ENSP00000332687:P424L;ENSP00000330470:P403L;ENSP00000339916:P403L	ENSP00000332687:P424L	P	+	2	0	LIMK2	29994140	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.487000	0.81328	2.804000	0.96469	0.655000	0.94253	CCC		0.577	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		T	31664140	C	T	31664140	3	4	168	1	0	0	0	0	1	0	0	0	8804	623	22	2	1370	2	LIMK2	22	31664140	Missense_Mutation	SNP	C	TCGA-B0-4945-01A-01D-1421-08	11206019	31664140	19640426	39	9777											
SLC7A3	84889	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	70147814	70147814	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4945-01A-01D-1421-08	TCGA-B0-4945-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9fae377f-6c63-4f47-a769-a1396fb15f56	c3df2623-db3a-4d8f-a062-5d2a7ec550a7	g.chrX:70147814A>C	ENST00000374299.3	-	6	1021	c.877T>G	c.(877-879)Tct>Gct	p.S293A	SLC7A3_ENST00000298085.4_Missense_Mutation_p.S293A			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	293					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.S293A(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AAGCAGACAGACAGTGAGATC	0.517																																																1	Substitution - Missense(1)	kidney(1)											161	130	140					X																	70147814		2203	4300	6503	SO:0001583	missense	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.877T>G	X.37:g.70147814A>C	ENSP00000363417:p.Ser293Ala		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	A	7.911	0.736472	0.15574	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88664	-2.41;-2.41	5.25	4.09	0.47781	Amino acid permease domain (1);	0.534910	0.21778	N	0.069246	T	0.77691	0.4168	N	0.13235	0.315	0.09310	N	1	B	0.02656	0.0	B	0.16722	0.016	T	0.66716	-0.5853	10	0.56958	D	0.05	.	5.4545	0.16582	0.692:0.0:0.308:0.0	.	293	Q8WY07	CTR3_HUMAN	A	293	ENSP00000363417:S293A;ENSP00000298085:S293A	ENSP00000298085:S293A	S	-	1	0	SLC7A3	70064539	1.000000	0.71417	0.001000	0.08648	0.116000	0.19942	6.160000	0.71862	0.817000	0.34445	0.430000	0.28490	TCT		0.517	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		C	70147814	A	C	70147814	3	2	168	1	0	0	0	0	1	0	0	0	14704	275	10	5	1010	5	SLC7A3	23	70147814	Missense_Mutation	SNP	A	TCGA-B0-4945-01A-01D-1421-08		70147814	85122746	40	9778											
KDM6A	7403	hgsc.bcm.edu	37	X	44732886	44732886	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5075-01A-01D-1392-10	TCGA-B0-5075-11A-01D-1392-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	0807b5fd-c193-41c9-bc78-015db179bafd	a3072f6e-9882-45f3-a3f6-a4e3fa1d71f2	g.chrX:44732886C>T	ENST00000377967.4	+	1	130	c.89C>T	c.(88-90)gCg>gTg	p.A30V	KDM6A_ENST00000382899.4_Missense_Mutation_p.A30V|KDM6A_ENST00000536777.1_Missense_Mutation_p.A30V|KDM6A_ENST00000543216.1_Missense_Mutation_p.A30V	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	30	Interaction with SUPT6H. {ECO:0000250}.		A -> T (in dbSNP:rs6529).		canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(8)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCGGGAAAAGCGAGCGGCGAG	0.687			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	14	No detectable mRNA/protein(8)|Whole gene deletion(6)	haematopoietic_and_lymphoid_tissue(6)|oesophagus(4)|breast(2)|pancreas(2)											6	8	7					X																	44732886		2090	4093	6183	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.89C>T	X.37:g.44732886C>T	ENSP00000367203:p.Ala30Val		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896705	0.91962	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	3.82	3.82	0.43975	.	0.057844	0.64402	N	0.000002	T	0.73853	0.3640	M	0.70595	2.14	0.58432	D	0.999999	D;P;P;D;P	0.76494	0.999;0.948;0.95;0.999;0.95	D;P;P;D;P	0.76071	0.987;0.637;0.667;0.97;0.667	T	0.78633	-0.2128	10	0.87932	D	0	-4.1103	15.0117	0.71555	0.0:1.0:0.0:0.0	.	30;30;30;30;30	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	V	30	ENSP00000367203:A30V;ENSP00000437405:A30V;ENSP00000372355:A30V;ENSP00000443078:A30V	ENSP00000367203:A30V	A	+	2	0	KDM6A	44617830	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.458000	0.73509	1.886000	0.54624	0.523000	0.50628	GCG		0.687	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		T	44732886	C	T	44732886	3	4	169	1	0	0	0	0	1	0	0	0	8139	768	27	1	91	1	KDM6A	23	44732886	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1392-10		44732886	110537674	1	9779											
UBE4B	10277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10163026	10163026	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr1:10163026A>T	ENST00000253251.8	+	5	1295	c.456A>T	c.(454-456)gaA>gaT	p.E152D	UBE4B_ENST00000377157.3_Missense_Mutation_p.E36D|UBE4B_ENST00000343090.6_Missense_Mutation_p.E152D					ubiquitination factor E4B									p.E152D(2)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CGGGCCCTGAAGTGTCTGAAG	0.448																																																2	Substitution - Missense(2)	kidney(2)											82	77	79					1																	10163026		2203	4300	6503	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.456A>T	1.37:g.10163026A>T	ENSP00000253251:p.Glu152Asp			Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321114	0.60634	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.54479	0.68;0.69;0.57	5.98	-3.85	0.04243	.	0.046905	0.85682	D	0.000000	T	0.34454	0.0898	N	0.20986	0.625	0.27364	N	0.955891	B;B	0.09022	0.002;0.002	B;B	0.11329	0.004;0.006	T	0.12142	-1.0559	10	0.30854	T	0.27	-23.2899	16.0175	0.80455	0.4499:0.0:0.5501:0.0	.	152;152	O95155;O95155-2	UBE4B_HUMAN;.	D	152;36;152	ENSP00000253251:E152D;ENSP00000366362:E36D;ENSP00000343001:E152D	ENSP00000253251:E152D	E	+	3	2	UBE4B	10085613	0.996000	0.38824	0.973000	0.42090	0.996000	0.88848	0.391000	0.20784	-0.680000	0.05211	0.528000	0.53228	GAA		0.448	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		T	10163026	A	T	10163026	3	4	170	1	0	0	0	0	1	0	0	0	16888	69	3	5	474	5	UBE4B	1	10163026	Missense_Mutation	SNP	A	TCGA-B0-5075-01A-01D-1462-08		10163026	239087595	1	9780											
PRAMEF4	400735	broad.mit.edu;hgsc.bcm.edu	37	1	12943139	12943139	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr1:12943139G>A	ENST00000235349.5	-	2	147	c.77C>T	c.(76-78)gCc>gTc	p.A26V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	26					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)			p.A26V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		GGTGGACATGGCCAAAGCTTG	0.577																																																1	Substitution - Missense(1)	kidney(1)											110	111	111					1																	12943139		2183	4283	6466	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.77C>T	1.37:g.12943139G>A	ENSP00000235349:p.Ala26Val		Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	g	13.54	2.266238	0.40095	.	.	ENSG00000243073	ENST00000235349	T	0.05382	3.45	1.48	1.48	0.22813	.	0.158012	0.43416	D	0.000567	T	0.09335	0.0230	M	0.70595	2.14	0.09310	N	1	P	0.44521	0.837	B	0.44133	0.442	T	0.10753	-1.0616	10	0.54805	T	0.06	.	6.4564	0.21932	0.0:0.0:1.0:0.0	.	26	O60810	PRAM4_HUMAN	V	26	ENSP00000235349:A26V	ENSP00000235349:A26V	A	-	2	0	PRAMEF4	12865726	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.312000	0.19397	1.137000	0.42214	0.400000	0.26472	GCC		0.577	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		A	12943139	G	A	12943139	3	1	170	1	0	0	0	0	1	0	0	0	12442	1203	42	2	1371	2	PRAMEF4	1	12943139	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	2780113	12943139	236307482	2	9781											
COL16A1	1307	broad.mit.edu;hgsc.bcm.edu	37	1	32149718	32149718	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr1:32149718C>T	ENST00000373672.3	-	32	2791	c.2275G>A	c.(2275-2277)Ggt>Agt	p.G759S	COL16A1_ENST00000373668.3_Missense_Mutation_p.G759S|COL16A1_ENST00000271069.6_Missense_Mutation_p.G758S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	759	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.G759S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ACGGGTTTACCAGGTCGGCCC	0.692																																					Colon(143;498 1786 21362 25193 36625)											1	Substitution - Missense(1)	kidney(1)											21	28	26					1																	32149718		2022	4160	6182	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2275G>A	1.37:g.32149718C>T	ENSP00000362776:p.Gly759Ser		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366593	0.61513	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	D;D;D	0.97888	-4.59;-4.59;-4.59	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.99045	0.9673	H	0.95004	3.61	0.49483	D	0.999798	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.99226	1.0880	10	0.66056	D	0.02	.	15.1286	0.72503	0.0:1.0:0.0:0.0	.	759;759;759	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	S	759;758;759	ENSP00000362776:G759S;ENSP00000271069:G758S;ENSP00000362772:G759S	ENSP00000271069:G758S	G	-	1	0	COL16A1	31922305	0.950000	0.32346	0.837000	0.33122	0.258000	0.26162	5.346000	0.65992	2.724000	0.93272	0.491000	0.48974	GGT		0.692	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		T	32149718	C	T	32149718	3	4	170	1	0	0	0	0	1	0	0	0	3675	594	21	2	2699	2	COL16A1	1	32149718	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	19206579	32149718	217100903	3	9782											
PARS2	25973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	55224207	55224207	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr1:55224207A>G	ENST00000371279.3	-	2	710	c.628T>C	c.(628-630)Tac>Cac	p.Y210H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	210					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.Y210H(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TCAAAGGTGTACATATCCTTC	0.547																																																1	Substitution - Missense(1)	kidney(1)											64	62	63					1																	55224207		2203	4300	6503	SO:0001583	missense	25973			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.628T>C	1.37:g.55224207A>G	ENSP00000360327:p.Tyr210His		A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	CCDS597.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905160	0.72868	.	.	ENSG00000162396	ENST00000371279	T	0.80123	-1.34	4.68	4.68	0.58851	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.93334	0.7875	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95583	0.8648	10	0.87932	D	0	-19.4026	14.3325	0.66566	1.0:0.0:0.0:0.0	.	210	Q7L3T8	SYPM_HUMAN	H	210	ENSP00000360327:Y210H	ENSP00000360327:Y210H	Y	-	1	0	PARS2	54996795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.099000	0.94207	1.964000	0.57103	0.460000	0.39030	TAC		0.547	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		G	55224207	A	G	55224207	3	3	170	1	0	0	0	0	1	0	0	0	11469	391	14	3	803	3	PARS2	1	55224207	Missense_Mutation	SNP	A	TCGA-B0-5075-01A-01D-1462-08	23074489	55224207	194026414	4	9783											
ANGPTL3	27329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	63063407	63063407	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr1:63063407T>A	ENST00000371129.3	+	1	250	c.170T>A	c.(169-171)cTt>cAt	p.L57H	DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	57					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)	p.L57H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						GGACATGGTCTTAAAGACTTT	0.358																																																1	Substitution - Missense(1)	kidney(1)											73	73	73					1																	63063407		2203	4300	6503	SO:0001583	missense	27329			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"Fibrinogen C domain containing"	491	protein-coding gene	gene with protein product	"angiopoietin 5"	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.170T>A	1.37:g.63063407T>A	ENSP00000360170:p.Leu57His		A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	ENST00000371129.3	37	CCDS622.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.452722	0.84209	.	.	ENSG00000132855	ENST00000371129	T	0.68181	-0.31	6.02	6.02	0.97574	.	0.132257	0.50627	D	0.000102	T	0.78220	0.4249	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.81376	-0.0961	10	0.87932	D	0	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	57	Q9Y5C1	ANGL3_HUMAN	H	57	ENSP00000360170:L57H	ENSP00000360170:L57H	L	+	2	0	ANGPTL3	62835995	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.299000	0.77371	0.528000	0.53228	CTT		0.358	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		A	63063407	T	A	63063407	3	1	170	1	0	0	0	0	1	0	0	0	615	1609	56	5	172	5	ANGPTL3	1	63063407	Missense_Mutation	SNP	T	TCGA-B0-5075-01A-01D-1462-08	7839200	63063407	186187214	5	9784											
LMO4	8543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	87805218	87805218	+	Splice_Site	SNP	G	G	C			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr1:87805218G>C	ENST00000370544.5	+	3	1016		c.e3-1		LMO4_ENST00000489303.1_Splice_Site|LMO4_ENST00000370542.1_Splice_Site	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4						negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		CTTTGTTTCAGGTTATTTGGA	0.448																																																1	Unknown(1)	kidney(1)											90	88	88					1																	87805218		2203	4300	6503	SO:0001630	splice_region_variant	8543			U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.237-1G>C	1.37:g.87805218G>C			D3DT23|O00158|O88894	Splice_Site	SNP	ENST00000370544.5	37	CCDS713.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911622	0.92178	.	.	ENSG00000143013	ENST00000370544;ENST00000370542	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8737	0.96861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LMO4	87577806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.687000	0.91594	0.655000	0.94253	.		0.448	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2	NM_006769	Intron	C	87805218	G	C	87805218	5	2	170	1	0	0	0	0	0	0	1	0	8856	1014	35	4	242	4	LMO4	1	87805218	Splice_Site	SNP	G	TCGA-B0-5075-01A-01D-1462-08	24741811	87805218	161445403	6	9785											
LPPR4	9890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	99771434	99771434	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr1:99771434C>G	ENST00000370185.3	+	7	1657	c.1160C>G	c.(1159-1161)aCa>aGa	p.T387R	LPPR4_ENST00000370184.1_Missense_Mutation_p.T229R|LPPR4_ENST00000457765.1_Missense_Mutation_p.T329R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		387					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.T387R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCTCTCTGACAAATCTCAAA	0.478																																																1	Substitution - Missense(1)	kidney(1)											73	72	72					1																	99771434		2203	4300	6503	SO:0001583	missense	9890																														ENST00000370185.3:c.1160C>G	1.37:g.99771434C>G	ENSP00000359204:p.Thr387Arg		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850456	0.17034	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.22743	2.52;2.53;1.94	5.31	4.4	0.53042	.	0.309946	0.37577	N	0.002033	T	0.16514	0.0397	N	0.22421	0.69	0.50467	D	0.999874	D;B	0.67145	0.996;0.262	P;B	0.62184	0.899;0.096	T	0.03673	-1.1014	9	.	.	.	-15.3639	13.7847	0.63102	0.0:0.9259:0.0:0.0741	.	329;387	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	R	387;329;387;229	ENSP00000359204:T387R;ENSP00000394913:T329R;ENSP00000359203:T229R	.	T	+	2	0	RP4-788L13.1	99544022	1.000000	0.71417	0.969000	0.41365	0.338000	0.28826	3.565000	0.53798	1.223000	0.43536	0.557000	0.71058	ACA		0.478	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			G	99771434	C	G	99771434	3	3	170	1	0	0	0	0	1	0	0	0	8929	478	17	4	1186	4	LPPR4	1	99771434	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	11966216	99771434	149479187	7	9786											
SLC16A4	9122	hgsc.bcm.edu;ucsc.edu	37	1	110923620	110923623	+	Frame_Shift_Del	DEL	ATCT	ATCT	-	rs545257111		TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	ATCT	ATCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr1:110923620_110923623delATCT	ENST00000369779.4	-	5	756_759	c.507_510delAGAT	c.(505-510)atagatfs	p.ID169fs	SLC16A4_ENST00000437429.2_Frame_Shift_Del_p.ID59fs|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_Frame_Shift_Del_p.ID107fs|SLC16A4_ENST00000369781.4_Frame_Shift_Del_p.ID169fs|SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000472422.2_Frame_Shift_Del_p.ID121fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	169					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)	AGTCATACAGATCTATCAGGAATT	0.392																																																0																																										SO:0001589	frameshift_variant	9122			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.507_510delAGAT	1.37:g.110923620_110923623delATCT	ENSP00000358794:p.Ile169fs		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Frame_Shift_Del	DEL	ENST00000369779.4	37	CCDS823.1																																																																																				0.392	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		-	110923623	ATCT	-	110923620	7	5	170	1	0	1	0	1	0	0	0	0	14416	330	12	0	973	0	SLC16A4	1	110923620	Frame_Shift_Del	DEL	ATCT	TCGA-B0-5075-01A-01D-1462-08	11152186	110923620	138327001	8	9787											
THBS3	7059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155170785	155170785	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr1:155170785A>T	ENST00000368378.3	-	13	1471	c.1451T>A	c.(1450-1452)cTt>cAt	p.L484H	RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.L364H|THBS3_ENST00000541990.1_Missense_Mutation_p.L13H	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	484					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.L484H(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGTGTCAAAAGGCAGTTGTC	0.562																																																1	Substitution - Missense(1)	kidney(1)											272	244	253					1																	155170785		2203	4300	6503	SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1451T>A	1.37:g.155170785A>T	ENSP00000357362:p.Leu484His		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146146	0.37923	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000541990;ENST00000428962	D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.48	4.45	4.45	0.53987	.	0.422412	0.21485	N	0.073777	D	0.95617	0.8575	L	0.43923	1.385	0.31393	N	0.677595	P;P;P;P	0.48016	0.904;0.904;0.847;0.847	P;B;B;B	0.51866	0.682;0.401;0.401;0.401	D	0.93786	0.7088	10	0.52906	T	0.07	-11.2686	11.9754	0.53089	1.0:0.0:0.0:0.0	.	364;484;484;484	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	H	484;364;13;334	ENSP00000357362:L484H;ENSP00000392207:L364H;ENSP00000437353:L13H;ENSP00000404040:L334H	ENSP00000357362:L484H	L	-	2	0	THBS3	153437409	0.172000	0.23043	1.000000	0.80357	0.992000	0.81027	0.901000	0.28445	2.001000	0.58596	0.383000	0.25322	CTT		0.562	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		T	155170785	A	T	155170785	3	4	170	1	0	0	0	0	1	0	0	0	15860	72	3	5	1463	5	THBS3	1	155170785	Missense_Mutation	SNP	A	TCGA-B0-5075-01A-01D-1462-08	44247165	155170785	94079836	9	9788											
LAMC2	3918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183197726	183197726	+	Silent	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr1:183197726G>A	ENST00000264144.4	+	11	1751	c.1686G>A	c.(1684-1686)ttG>ttA	p.L562L	LAMC2_ENST00000493293.1_Silent_p.L562L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	562	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.L562L(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGGACCCATTGGCTCCCAACC	0.567											OREG0014041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											91	89	90					1																	183197726		2203	4300	6503	SO:0001819	synonymous_variant	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1686G>A	1.37:g.183197726G>A		1982	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	CCDS1352.1																																																																																				0.567	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		A	183197726	G	A	183197726	2	1	170	1	0	0	0	0	0	0	0	1	8617	1339	47	2		2	LAMC2	1	183197726	Silent	SNP	G	TCGA-B0-5075-01A-01D-1462-08	28026941	183197726	66052895	10	9789											
NBAS	51594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	15607839	15607839	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr2:15607839T>C	ENST00000281513.5	-	18	1992	c.1967A>G	c.(1966-1968)gAa>gGa	p.E656G	NBAS_ENST00000441750.1_Missense_Mutation_p.E656G	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	656					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E656G(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCTCCTTTTCCTTTTTATT	0.338																																																1	Substitution - Missense(1)	kidney(1)											113	103	106					2																	15607839		2202	4300	6502	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1967A>G	2.37:g.15607839T>C	ENSP00000281513:p.Glu656Gly		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742441	0.30865	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11604	2.76;2.9	5.65	1.93	0.25924	.	0.149773	0.64402	N	0.000015	T	0.10294	0.0252	L	0.57536	1.79	0.19775	N	0.999951	B	0.32573	0.376	B	0.29267	0.1	T	0.18085	-1.0348	10	0.87932	D	0	.	6.8093	0.23794	0.0:0.1345:0.128:0.7376	.	656	A2RRP1	NBAS_HUMAN	G	656	ENSP00000413201:E656G;ENSP00000281513:E656G	ENSP00000281513:E656G	E	-	2	0	NBAS	15525290	0.999000	0.42202	0.002000	0.10522	0.411000	0.31082	3.226000	0.51254	0.090000	0.17273	0.528000	0.53228	GAA		0.338	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		C	15607839	T	C	15607839	3	2	170	1	0	0	0	0	1	0	0	0	10188	1783	62	3	5288	3	NBAS	2	15607839	Missense_Mutation	SNP	T	TCGA-B0-5075-01A-01D-1462-08		15607839	227591534	11	9790											
ANKRD36B	57730	hgsc.bcm.edu	37	2	98165911	98165912	+	RNA	INS	-	-	C	rs1839230|rs112877086	byFrequency	TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr2:98165911_98165912insC	ENST00000443455.1	-	0	1557_1558							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		ATCCTTTTTTTCTCTGGCTATA	0.307																																																0																																												57730			AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98165912_98165912dupC			Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Frame_Shift_Ins	INS	ENST00000443455.1	37																																																																																					0.307	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		C	98165912	-	C	98165911	6	5	170	0	1	1	1	0	0	0	0	0	666	1783	62	0		0	ANKRD36B	2	98165911	RNA	INS	-	TCGA-B0-5075-01A-01D-1462-08	82558072	98165911	145033462	12	9791											
VHL	7428	broad.mit.edu	37	3	10183864	10183865	+	Frame_Shift_Ins	INS	-	-	A	rs104893824		TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq;PacBio			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr3:10183864_10183865insA	ENST00000256474.2	+	1	1173_1174	c.333_334insA	c.(334-336)tacfs	p.Y112fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Ins_p.Y112fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	112	Involved in binding to CCT complex.		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD). {ECO:0000269|PubMed:10533030}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S111R(3)|p.S111S(2)|p.?(1)|p.Y112D(1)|p.I109_R113del(1)|p.S111fs*45(1)|p.H110_S111del(1)|p.S111_Y112del(1)|p.Y112fs*47(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCATCCACAGCTACCGAGGTAC	0.693		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Substitution - Missense(4)|Deletion - In frame(3)|Deletion - Frameshift(2)|Substitution - coding silent(2)|Unknown(1)	kidney(12)	GRCh37	CM951281|CM951283|CM992977	VHL	M	rs104893824																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	Exception_encountered	3.37:g.10183864_10183865insA	ENSP00000256474:p.Tyr112fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.693	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183865	-	A	10183864	7	5	170	1	0	1	1	0	0	0	0	0	17167	796	28	0	335	0	VHL	3	10183864	Frame_Shift_Ins	INS	-	TCGA-B0-5075-01A-01D-1462-08		10183864	187838566	13	9792											
TBC1D5	9779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	17279709	17279709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr3:17279709G>A	ENST00000253692.7	-	17	3198	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	TBC1D5_ENST00000429924.2_Nonsense_Mutation_p.Q464*|TBC1D5_ENST00000446818.2_Nonsense_Mutation_p.Q512*|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Nonsense_Mutation_p.Q512*	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	512						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.Q512*(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TGCTGCTGCTGTTGCTGTTGC	0.473																																																1	Substitution - Nonsense(1)	kidney(1)											58	57	58					3																	17279709		2203	4300	6503	SO:0001587	stop_gained	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1534C>T	3.37:g.17279709G>A	ENSP00000253692:p.Gln512*		A6NP25|C9JP52	Nonsense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	36	5.886867	0.97068	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	.	.	.	5.5	4.55	0.56014	.	0.543665	0.21420	N	0.074826	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	6.9544	0.24562	0.0774:0.1195:0.6665:0.1366	.	.	.	.	X	512;512;512;464	.	ENSP00000253692:Q512X	Q	-	1	0	TBC1D5	17254713	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	3.473000	0.53122	2.573000	0.86826	0.555000	0.69702	CAG		0.473	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		A	17279709	G	A	17279709	4	1	170	1	0	0	0	0	0	1	0	0	15628	1386	48	2	947	2	TBC1D5	3	17279709	Nonsense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	7095845	17279709	180742721	14	9793											
OXSR1	9943	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38294372	38294372	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr3:38294372G>A	ENST00000311806.3	+	18	1946	c.1574G>A	c.(1573-1575)aGc>aAc	p.S525N		NM_005109.2	NP_005100.1			oxidative stress responsive 1									p.S525N(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCCAGCTCAGCATCAGCTAA	0.448																																																1	Substitution - Missense(1)	kidney(1)											112	103	106					3																	38294372		2203	4300	6503	SO:0001583	missense	9943			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1574G>A	3.37:g.38294372G>A	ENSP00000311713:p.Ser525Asn			Missense_Mutation	SNP	ENST00000311806.3	37	CCDS2675.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382546	0.82792	.	.	ENSG00000172939	ENST00000311806	T	0.74737	-0.87	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.86401	0.5924	M	0.79693	2.465	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.88086	0.2810	10	0.72032	D	0.01	-9.7419	15.9544	0.79871	0.0:0.0:1.0:0.0	.	525	O95747	OXSR1_HUMAN	N	525	ENSP00000311713:S525N	ENSP00000311713:S525N	S	+	2	0	OXSR1	38269376	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.218000	0.89768	2.519000	0.84933	0.585000	0.79938	AGC		0.448	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	NM_005109		A	38294372	G	A	38294372	3	1	170	1	0	0	0	0	1	0	0	0	11338	971	34	2	1644	2	OXSR1	3	38294372	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	21014663	38294372	159728058	15	9794											
BAP1	8314	hgsc.bcm.edu;ucsc.edu	37	3	52439219	52439238	+	Frame_Shift_Del	DEL	GCTGCCTGGAGGCTTCACCA	GCTGCCTGGAGGCTTCACCA	-			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	GCTGCCTGGAGGCTTCACCA	GCTGCCTGGAGGCTTCACCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr3:52439219_52439238delGCTGCCTGGAGGCTTCACCA	ENST00000460680.1	-	11	1475_1494	c.1004_1023delTGGTGAAGCCTCCAGGCAGC	c.(1003-1023)gtggtgaagcctccaggcagcfs	p.VVKPPGS335fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.VVKPPGS317fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G340S(1)|p.V335fs*10(1)|p.S341fs*21(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGG	0.586			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	3	Deletion - Frameshift(2)|Substitution - Missense(1)	pleura(1)|lung(1)|skin(1)																																								SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1004_1023delTGGTGAAGCCTCCAGGCAGC	3.37:g.52439219_52439238delGCTGCCTGGAGGCTTCACCA	ENSP00000417132:p.Val335fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																				0.586	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52439238	GCTGCCTGGAGGCTTCACCA	-	52439219	7	5	170	1	0	1	0	1	0	0	0	0	1311	1310	46	0	1194	0	BAP1	3	52439219	Frame_Shift_Del	DEL	GCTGCCTGGAGGCTTCACCA	TCGA-B0-5075-01A-01D-1462-08	14144847	52439219	145583211	16	9795											
COL8A1	1295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	99513362	99513362	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr3:99513362G>A	ENST00000261037.3	+	5	997	c.617G>A	c.(616-618)gGc>gAc	p.G206D	COL8A1_ENST00000273342.4_Missense_Mutation_p.G206D	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	206	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)		p.G206D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACTTCCTGGCATTGGGAAG	0.592																																																1	Substitution - Missense(1)	kidney(1)											50	53	52					3																	99513362		2202	4300	6502	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.617G>A	3.37:g.99513362G>A	ENSP00000261037:p.Gly206Asp		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970859	0.53614	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.99353	-5.77;-5.77	5.37	5.37	0.77165	.	0.048139	0.85682	D	0.000000	D	0.99651	0.9871	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.97593	1.0118	10	0.72032	D	0.01	.	16.5979	0.84801	0.0:0.0:1.0:0.0	.	207;206	E7EPK9;P27658	.;CO8A1_HUMAN	D	206	ENSP00000261037:G206D;ENSP00000273342:G206D	ENSP00000261037:G206D	G	+	2	0	COL8A1	100996052	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.858000	0.86971	2.511000	0.84671	0.655000	0.94253	GGC		0.592	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		A	99513362	G	A	99513362	3	1	170	1	0	0	0	0	1	0	0	0	3707	1203	42	2	623	2	COL8A1	3	99513362	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	47074143	99513362	98509068	17	9796											
KIAA2018	205717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113377055	113377055	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr3:113377055C>A	ENST00000478658.1	-	5	3491	c.3474G>T	c.(3472-3474)agG>agT	p.R1158S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.R1158S			Q68DE3	K2018_HUMAN	KIAA2018	1158						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R1158S(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGCAACTTCCCTTATATCAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											105	96	99					3																	113377055		1882	4111	5993	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3474G>T	3.37:g.113377055C>A	ENSP00000420721:p.Arg1158Ser		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	7.904	0.734977	0.15574	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.14766	2.48;2.48	5.43	1.72	0.24424	.	0.335327	0.30809	N	0.008821	T	0.05044	0.0135	N	0.19112	0.55	0.20074	N	0.999938	P	0.35433	0.501	B	0.22386	0.039	T	0.41197	-0.9522	10	0.09338	T	0.73	-5.8388	5.5968	0.17331	0.0:0.5795:0.1306:0.2898	.	1158	Q68DE3	K2018_HUMAN	S	1158	ENSP00000320794:R1158S;ENSP00000420721:R1158S	ENSP00000320794:R1158S	R	-	3	2	KIAA2018	114859745	0.238000	0.23825	0.370000	0.25965	0.952000	0.60782	0.158000	0.16422	0.043000	0.15746	-1.075000	0.02238	AGG		0.468	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		A	113377055	C	A	113377055	3	1	170	1	0	0	0	0	1	0	0	0	8270	622	22	4	3267	4	KIAA2018	3	113377055	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	13863693	113377055	84645375	18	9797											
PIK3R4	30849	hgsc.bcm.edu;ucsc.edu	37	3	130463485	130463487	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr3:130463485_130463487delCTC	ENST00000356763.3	-	2	1133_1135	c.576_578delGAG	c.(574-579)aggaga>aga	p.192_193RR>R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ATAGCAAGTTCTCCTCCGTGATG	0.404																																																0																																										SO:0001651	inframe_deletion	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.576_578delGAG	3.37:g.130463488_130463490delCTC	ENSP00000349205:p.Arg193del		Q2TBF4	In_Frame_Del	DEL	ENST00000356763.3	37	CCDS3067.1																																																																																				0.404	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		-	130463487	CTC	-	130463485	7	5	170	1	0	1	0	1	0	0	0	0	11923	913	32	0	3574	0	PIK3R4	3	130463485	In_Frame_Del	DEL	CTC	TCGA-B0-5075-01A-01D-1462-08	17086430	130463485	67558945	19	9798											
UBA5	79876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132387698	132387698	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr3:132387698A>G	ENST00000356232.4	+	4	1406	c.334A>G	c.(334-336)Aat>Gat	p.N112D	UBA5_ENST00000473651.1_Missense_Mutation_p.N112D|UBA5_ENST00000494238.2_Missense_Mutation_p.N56D|UBA5_ENST00000493720.2_Missense_Mutation_p.N112D|UBA5_ENST00000264991.4_Missense_Mutation_p.N56D	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	112					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)	p.N112D(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGAACTAGCCAATATGAATAG	0.323																																																1	Substitution - Missense(1)	kidney(1)											128	128	128					3																	132387698		2203	4298	6501	SO:0001583	missense	79876			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.334A>G	3.37:g.132387698A>G	ENSP00000348565:p.Asn112Asp		A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	A	31	5.086816	0.94100	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000468022;ENST00000473651;ENST00000494238;ENST00000464068;ENST00000489361	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.62	5.62	0.85841	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.039492	0.85682	D	0.000000	T	0.80979	0.4728	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86954	0.2087	10	0.87932	D	0	-19.7757	15.837	0.78805	1.0:0.0:0.0:0.0	.	112;112	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	D	56;112;112;56;112;56;22;56	ENSP00000264991:N56D;ENSP00000348565:N112D;ENSP00000417879:N112D;ENSP00000418569:N56D;ENSP00000424984:N112D;ENSP00000418807:N56D;ENSP00000420055:N22D;ENSP00000417905:N56D	ENSP00000264991:N56D	N	+	1	0	UBA5	133870388	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.265000	0.95647	2.140000	0.66376	0.460000	0.39030	AAT		0.323	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		G	132387698	A	G	132387698	3	3	170	1	0	0	0	0	1	0	0	0	16835	130	5	3	348	3	UBA5	3	132387698	Missense_Mutation	SNP	A	TCGA-B0-5075-01A-01D-1462-08	1924213	132387698	65634732	20	9799											
TFDP2	7029	hgsc.bcm.edu;ucsc.edu	37	3	141671843	141671843	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr3:141671843delG	ENST00000489671.1	-	12	1497	c.1067delC	c.(1066-1068)cctfs	p.P356fs	TFDP2_ENST00000397991.4_Frame_Shift_Del_p.P328fs|TFDP2_ENST00000317104.7_Frame_Shift_Del_p.P280fs|TFDP2_ENST00000477292.1_Frame_Shift_Del_p.P220fs|TFDP2_ENST00000495310.1_Frame_Shift_Del_p.P259fs|TFDP2_ENST00000499676.2_Frame_Shift_Del_p.P296fs|TFDP2_ENST00000310282.6_Frame_Shift_Del_p.P296fs|TFDP2_ENST00000486111.1_Frame_Shift_Del_p.P296fs|TFDP2_ENST00000467072.1_Frame_Shift_Del_p.P296fs|TFDP2_ENST00000479040.1_Frame_Shift_Del_p.P295fs			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	356					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						TAACCAAGAAGGTCCTGTGGA	0.428																																																0													98	98	98					3																	141671843		1850	4093	5943	SO:0001589	frameshift_variant	7029			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.1067delC	3.37:g.141671843delG	ENSP00000420616:p.Pro356fs		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Frame_Shift_Del	DEL	ENST00000489671.1	37	CCDS54650.1																																																																																				0.428	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		-	141671843	G	-	141671843	7	5	170	1	0	1	0	1	0	0	0	0	15803	1000	35	0	281	0	TFDP2	3	141671843	Frame_Shift_Del	DEL	G	TCGA-B0-5075-01A-01D-1462-08	9284145	141671843	56350587	21	9800											
FETUB	26998	broad.mit.edu;ucsc.edu	37	3	186364117	186364117	+	Silent	SNP	A	A	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr3:186364117A>T	ENST00000265029.3	+	5	776	c.675A>T	c.(673-675)tcA>tcT	p.S225S	FETUB_ENST00000450521.1_Silent_p.S225S|FETUB_ENST00000382134.3_Silent_p.S160S|FETUB_ENST00000382136.3_Silent_p.S188S|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Silent_p.S77S|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	225	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.S225S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCAGCTGTTCACTTCAGTCCT	0.413																																																1	Substitution - coding silent(1)	kidney(1)											143	148	146					3																	186364117		2203	4300	6503	SO:0001819	synonymous_variant	26998			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.675A>T	3.37:g.186364117A>T			B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Silent	SNP	ENST00000265029.3	37	CCDS3279.1																																																																																				0.413	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		T	186364117	A	T	186364117	2	4	170	1	0	0	0	0	0	0	0	1	5823	146	6	5		5	FETUB	3	186364117	Silent	SNP	A	TCGA-B0-5075-01A-01D-1462-08	44692274	186364117	11658313	22	9801											
N4BP2	55728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	40122527	40122527	+	Silent	SNP	C	C	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr4:40122527C>T	ENST00000261435.6	+	9	3212	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	932					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.G932G(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCTGTTGGGGCACAAGCTCTC	0.413																																																1	Substitution - coding silent(1)	kidney(1)											62	59	60					4																	40122527		2203	4300	6503	SO:0001819	synonymous_variant	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2796C>T	4.37:g.40122527C>T			A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.418226	0.01136	.	.	ENSG00000078177	ENST00000513269	.	.	.	5.62	-0.35	0.12606	.	.	.	.	.	T	0.42585	0.1209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22347	-1.0219	4	.	.	.	-0.805	2.7343	0.05236	0.1139:0.5098:0.1163:0.26	.	.	.	.	Y	579	.	.	H	+	1	0	N4BP2	39798922	0.993000	0.37304	0.886000	0.34754	0.111000	0.19643	0.947000	0.29082	-0.096000	0.12329	-0.136000	0.14681	CAC		0.413	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		T	40122527	C	T	40122527	2	4	170	1	0	0	0	0	0	0	0	1	10112	697	25	2		2	N4BP2	4	40122527	Silent	SNP	C	TCGA-B0-5075-01A-01D-1462-08		40122527	151031749	23	9802											
HERC5	51191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	89385020	89385020	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr4:89385020T>G	ENST00000264350.3	+	6	948	c.795T>G	c.(793-795)ttT>ttG	p.F265L		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	265					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.F265L(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGCTGCTGTTTACTTTCGGTG	0.388																																					Esophageal Squamous(39;887 1012 34045 50514)											1	Substitution - Missense(1)	kidney(1)											176	158	164					4																	89385020		2203	4300	6503	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.795T>G	4.37:g.89385020T>G	ENSP00000264350:p.Phe265Leu		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760532	0.69763	.	.	ENSG00000138646	ENST00000264350	D	0.87571	-2.27	4.85	-0.0555	0.13809	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.091054	0.47852	D	0.000219	D	0.89681	0.6785	M	0.63843	1.955	0.80722	D	1	D	0.63880	0.993	D	0.68483	0.958	D	0.87299	0.2304	10	0.72032	D	0.01	.	8.5037	0.33175	0.0:0.4529:0.0:0.5471	.	265	Q9UII4	HERC5_HUMAN	L	265	ENSP00000264350:F265L	ENSP00000264350:F265L	F	+	3	2	HERC5	89604043	0.953000	0.32496	0.999000	0.59377	0.996000	0.88848	-0.033000	0.12246	0.121000	0.18284	0.528000	0.53228	TTT		0.388	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		G	89385020	T	G	89385020	3	3	170	1	0	0	0	0	1	0	0	0	7063	1751	61	5	817	5	HERC5	4	89385020	Missense_Mutation	SNP	T	TCGA-B0-5075-01A-01D-1462-08	49262493	89385020	101769256	24	9803											
LARP1B	55132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	129043237	129043237	+	Missense_Mutation	SNP	G	G	C	rs142360155		TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr4:129043237G>C	ENST00000326639.6	+	11	1629	c.1418G>C	c.(1417-1419)cGg>cCg	p.R473P	LARP1B_ENST00000512292.1_Missense_Mutation_p.R473P|LARP1B_ENST00000441387.1_Missense_Mutation_p.R473P|LARP1B_ENST00000264584.5_Missense_Mutation_p.R426P|LARP1B_ENST00000427266.1_Missense_Mutation_p.R473P|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	473				R -> Q (in Ref. 1; BAC03970). {ECO:0000305}.		nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R473P(2)|p.R473L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CACATGTCTCGGGCAAAAATC	0.388																																																3	Substitution - Missense(3)	kidney(2)|large_intestine(1)											113	105	108					4																	129043237		2203	4300	6503	SO:0001583	missense	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1418G>C	4.37:g.129043237G>C	ENSP00000321997:p.Arg473Pro		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761733	0.31228	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T	0.53857	1.11;0.6;0.63;1.17;1.08;0.62	5.09	-1.77	0.07982	.	0.313899	0.34200	N	0.004170	T	0.53400	0.1794	M	0.84326	2.69	0.36025	D	0.839029	B;B;B	0.28439	0.212;0.031;0.008	B;B;B	0.31686	0.134;0.048;0.008	T	0.56673	-0.7940	10	0.72032	D	0.01	.	11.8238	0.52254	0.5243:0.0:0.4757:0.0	.	426;473;473	D6RJB0;Q659C4;G3XAJ5	.;LAR1B_HUMAN;.	P	473;473;426;426;473;473	ENSP00000321997:R473P;ENSP00000422850:R473P;ENSP00000427281:R426P;ENSP00000264584:R426P;ENSP00000396521:R473P;ENSP00000403586:R473P	ENSP00000264584:R426P	R	+	2	0	LARP1B	129262687	0.224000	0.23674	0.036000	0.18154	0.764000	0.43329	0.504000	0.22626	-0.700000	0.05070	0.585000	0.79938	CGG		0.388	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		C	129043237	G	C	129043237	3	2	170	1	0	0	0	0	1	0	0	0	8631	1116	39	4	1541	4	LARP1B	4	129043237	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	39658217	129043237	62111039	25	9804											
GPX3	10318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150407548	150407548	+	IGR	SNP	C	C	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr5:150407548C>A	ENST00000389378.2	-	0	3268				GPX3_ENST00000517973.1_3'UTR|GPX3_ENST00000388825.4_Missense_Mutation_p.R180S	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1						defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)	p.R180S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACGACATCCGCTGGAACTT	0.567																																																1	Substitution - Missense(1)	kidney(1)											55	57	56					5																	150407548		2031	4218	6249	SO:0001628	intergenic_variant	2878			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025			5.37:g.150407548C>A			A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	CCDS34280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.20|15.20	2.761744|2.761744	0.49468|0.49468	.|.	.|.	ENSG00000211445|ENSG00000211445	ENST00000521632|ENST00000388825	.|T	.|0.03982	.|3.74	5.33|5.33	4.47|4.47	0.54385|0.54385	.|Thioredoxin-like fold (2);	.|0.124148	.|0.50627	.|D	.|0.000119	T|T	0.11067|0.11067	0.0270|0.0270	L|L	0.45285|0.45285	1.41|1.41	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.66084	.|0.941	T|T	0.13150|0.13150	-1.0520|-1.0520	5|10	.|0.34782	.|T	.|0.22	.|.	7.4921|7.4921	0.27469|0.27469	0.2749:0.6417:0.0:0.0834|0.2749:0.6417:0.0:0.0834	.|.	.|180	.|P22352	.|GPX3_HUMAN	Q|S	116|180	.|ENSP00000373477:R180S	.|ENSP00000373477:R180S	P|R	+|+	2|1	0|0	GPX3|GPX3	150387741|150387741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.913000|3.913000	0.56394|0.56394	1.242000|1.242000	0.43836|0.43836	-0.136000|-0.136000	0.14681|0.14681	CCG|CGC		0.567	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		A	150407548	C	A	150407548	1	1	170	0	1	0	0	0	0	0	0	0	6743	652	23	4		4	GPX3	5	150407548	IGR	SNP	C	TCGA-B0-5075-01A-01D-1462-08		150407548	30507712	26	9805											
ABCF1	23	broad.mit.edu;hgsc.bcm.edu	37	6	30548295	30548295	+	Splice_Site	SNP	A	A	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr6:30548295A>G	ENST00000326195.8	+	8	789	c.677A>G	c.(676-678)cAg>cGg	p.Q226R	ABCF1_ENST00000376545.3_Splice_Site_p.Q226R|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	226	Glu-rich.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.Q226R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAGGCAGAGCAGGTGTGTATT	0.473																																																1	Substitution - Missense(1)	kidney(1)											30	24	26					6																	30548295		1509	2707	4216	SO:0001630	splice_region_variant	23			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.678+1A>G	6.37:g.30548295A>G			A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.301037	0.23650	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867	T;T;T	0.56103	0.48;0.64;0.94	5.0	3.8	0.43715	.	1.003210	0.08033	N	0.993855	T	0.16300	0.0392	N	0.14661	0.345	0.80722	D	1	B;B;B	0.26445	0.149;0.149;0.037	B;B;B	0.26202	0.067;0.067;0.025	T	0.16012	-1.0417	10	0.15952	T	0.53	-10.8409	8.6396	0.33970	0.9088:0.0:0.0912:0.0	.	226;226;226	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	R	226;226;227;227	ENSP00000313603:Q226R;ENSP00000365728:Q226R;ENSP00000405512:Q227R	ENSP00000313603:Q226R	Q	+	2	0	ABCF1	30656274	1.000000	0.71417	0.947000	0.38551	0.766000	0.43426	1.217000	0.32455	0.718000	0.32166	0.383000	0.25322	CAG		0.473	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		Missense_Mutation	G	30548295	A	G	30548295	5	3	170	1	0	0	0	0	0	0	1	0	65	202	7	3	707	3	ABCF1	6	30548295	Splice_Site	SNP	A	TCGA-B0-5075-01A-01D-1462-08		30548295	140566772	27	9806											
ZNF76	7629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35258122	35258122	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr6:35258122G>T	ENST00000373953.3	+	6	778	c.512G>T	c.(511-513)gGc>gTc	p.G171V	ZNF76_ENST00000339411.5_Missense_Mutation_p.G171V|ZNF76_ENST00000440666.2_Missense_Mutation_p.G145V	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	171					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G171V(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGCTACAAGGGCTGTGGGCGT	0.532																																					Esophageal Squamous(52;92 1039 20612 23956 34676)											1	Substitution - Missense(1)	kidney(1)											221	203	209					6																	35258122		2203	4300	6503	SO:0001583	missense	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.512G>T	6.37:g.35258122G>T	ENSP00000363064:p.Gly171Val		Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729151	0.89390	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000695	T	0.44180	0.1281	L	0.41415	1.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.44528	-0.9322	10	0.72032	D	0.01	.	16.7003	0.85348	0.0:0.0:1.0:0.0	.	171;171;171	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	V	171;171;171;171;145;171	ENSP00000419106:G171V;ENSP00000363064:G171V;ENSP00000392243:G145V;ENSP00000344097:G171V	ENSP00000344097:G171V	G	+	2	0	ZNF76	35366100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.591000	0.98241	2.505000	0.84491	0.561000	0.74099	GGC		0.532	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		T	35258122	G	T	35258122	3	4	170	1	0	0	0	0	1	0	0	0	18140	1203	42	4	530	4	ZNF76	6	35258122	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	4709827	35258122	135856945	28	9807											
C6orf64	55776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	39073238	39073238	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr6:39073238C>G	ENST00000229903.4	-	2	621	c.522G>C	c.(520-522)gaG>gaC	p.E174D	SAYSD1_ENST00000373249.1_Missense_Mutation_p.E107D	NM_018322.1	NP_060792.1	Q9NPB0	SMDC1_HUMAN	SAYSVFN motif domain containing 1	174						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)		p.E174D(1)									TCAACTGTAACTCGCGCTCCA	0.532																																																1	Substitution - Missense(1)	kidney(1)											103	106	105					6																	39073238		2203	4300	6503	SO:0001583	missense	0			BC022007	CCDS4840.1	6p21.1	2011-12-13	2011-12-13	2011-12-13	ENSG00000112167	ENSG00000112167			21025	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 64"	C6orf64			Standard	XM_005249222		Approved	FLJ11101	uc003ook.1	Q9NPB0	OTTHUMG00000014641	ENST00000229903.4:c.522G>C	6.37:g.39073238C>G	ENSP00000229903:p.Glu174Asp		Q9H0D8	Missense_Mutation	SNP	ENST00000229903.4	37	CCDS4840.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126582	0.56721	.	.	ENSG00000112167	ENST00000373249;ENST00000229903	.	.	.	5.75	4.7	0.59300	Uncharacterised domain SAYSvFN (1);	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.52206	1.635	0.58432	D	0.999998	D	0.71674	0.998	D	0.72982	0.979	T	0.62895	-0.6757	9	0.62326	D	0.03	-27.16	9.9268	0.41496	0.0:0.7936:0.0:0.2064	.	174	Q9NPB0	CF064_HUMAN	D	107;174	.	ENSP00000229903:E174D	E	-	3	2	C6orf64	39181216	0.995000	0.38212	0.968000	0.41197	0.904000	0.53231	2.472000	0.45136	2.720000	0.93068	0.563000	0.77884	GAG		0.532	SAYSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040448.1	NM_018322		G	39073238	C	G	39073238	3	3	170	1	0	0	0	0	1	0	0	0	2371	564	20	4	33	4	C6orf64	6	39073238	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	3815116	39073238	132041829	29	9808											
ABCC10	89845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43402438	43402438	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr6:43402438C>T	ENST00000372530.4	+	4	1675	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V	ABCC10_ENST00000244533.3_Missense_Mutation_p.A444V|ABCC10_ENST00000443426.2_3'UTR	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	487	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A444V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CGAGTAGAGGCCTGCCGGGCT	0.602																																																1	Substitution - Missense(1)	kidney(1)											90	100	96					6																	43402438		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1460C>T	6.37:g.43402438C>T	ENSP00000361608:p.Ala487Val		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324305	0.41197	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.89617	-2.54;-2.54;-2.54	5.93	4.99	0.66335	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.676502	0.15525	N	0.257839	T	0.79125	0.4393	L	0.37507	1.11	0.09310	N	1	B;P	0.38677	0.001;0.642	B;B	0.38106	0.005;0.265	T	0.73949	-0.3821	10	0.36615	T	0.2	-12.7575	17.1045	0.86658	0.1516:0.8484:0.0:0.0	.	444;487	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	V	43;487;444	ENSP00000361593:A43V;ENSP00000361608:A487V;ENSP00000244533:A444V	ENSP00000244533:A444V	A	+	2	0	ABCC10	43510416	0.069000	0.21087	1.000000	0.80357	0.955000	0.61496	0.457000	0.21875	2.826000	0.97356	0.655000	0.94253	GCC		0.602	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		T	43402438	C	T	43402438	3	4	170	1	0	0	0	0	1	0	0	0	50	739	26	2	1337	2	ABCC10	6	43402438	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	4329200	43402438	127712629	30	9809											
EPHA7	2045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	93964470	93964470	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr6:93964470C>A	ENST00000369303.4	-	14	2611	c.2427G>T	c.(2425-2427)caG>caT	p.Q809H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	809	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.Q809H(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTTCCGGTACTGGATGGCTT	0.363																																																1	Substitution - Missense(1)	kidney(1)											128	110	116					6																	93964470		2203	4300	6503	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2427G>T	6.37:g.93964470C>A	ENSP00000358309:p.Gln809His		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947516	0.73672	.	.	ENSG00000135333	ENST00000369303	D	0.83075	-1.68	5.51	-8.02	0.01118	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76292	0.3967	N	0.16201	0.385	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.91635	0.688;0.999;0.999	T	0.82335	-0.0508	10	0.87932	D	0	.	21.385	0.99952	0.0:0.7164:0.0:0.2836	.	805;804;809	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	H	809	ENSP00000358309:Q809H	ENSP00000358309:Q809H	Q	-	3	2	EPHA7	94021191	0.023000	0.18921	0.739000	0.30968	0.991000	0.79684	-0.749000	0.04813	-1.565000	0.01676	-0.302000	0.09304	CAG		0.363	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			A	93964470	C	A	93964470	3	1	170	1	0	0	0	0	1	0	0	0	5174	564	20	4	585	4	EPHA7	6	93964470	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	50562032	93964470	77150597	31	9810											
TIAM2	26230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	155498049	155498049	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr6:155498049G>A	ENST00000461783.3	+	12	3734	c.2461G>A	c.(2461-2463)Gga>Aga	p.G821R	TIAM2_ENST00000318981.5_Missense_Mutation_p.G821R|TIAM2_ENST00000456144.1_Missense_Mutation_p.G821R|TIAM2_ENST00000456877.2_Missense_Mutation_p.G133R|TIAM2_ENST00000360366.4_Missense_Mutation_p.G845R|TIAM2_ENST00000367174.2_Missense_Mutation_p.G197R|TIAM2_ENST00000529824.2_Missense_Mutation_p.G821R|TIAM2_ENST00000528391.2_Missense_Mutation_p.G157R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	821	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G821R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGACAATCACGGAGTTACTGT	0.423																																																1	Substitution - Missense(1)	kidney(1)											160	140	147					6																	155498049		2203	4300	6503	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2461G>A	6.37:g.155498049G>A	ENSP00000437188:p.Gly821Arg		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518873	0.44763	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.05199	3.65;3.54;3.61;3.65;3.48;3.65;3.61;3.48;3.48	5.55	5.55	0.83447	Raf-like Ras-binding (2);	0.260219	0.39544	N	0.001329	T	0.05868	0.0153	L	0.51422	1.61	0.41370	D	0.987482	P;D;D;P	0.53619	0.569;0.961;0.961;0.934	B;P;P;B	0.46172	0.112;0.506;0.506;0.214	T	0.47935	-0.9078	10	0.25751	T	0.34	.	18.0566	0.89365	0.0:0.0:1.0:0.0	.	157;821;845;821	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	R	821;1067;821;821;821;197;845;821;133;157	ENSP00000437188:G821R;ENSP00000434901:G821R;ENSP00000407746:G821R;ENSP00000327315:G821R;ENSP00000356142:G197R;ENSP00000353528:G845R;ENSP00000433348:G821R;ENSP00000407183:G133R;ENSP00000435335:G157R	ENSP00000327315:G821R	G	+	1	0	TIAM2	155539741	0.928000	0.31464	0.101000	0.21167	0.020000	0.10135	6.013000	0.70776	2.768000	0.95171	0.655000	0.94253	GGA		0.423	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		A	155498049	G	A	155498049	3	1	170	1	0	0	0	0	1	0	0	0	15896	1117	39	1	2487	1	TIAM2	6	155498049	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	61533579	155498049	15617018	32	9811											
TBP	6908	hgsc.bcm.edu;ucsc.edu	37	6	170878701	170878703	+	Splice_Site	DEL	GAA	GAA	-			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr6:170878701_170878703delGAA	ENST00000392092.2	+	6	958_960	c.679_681delGAA	c.(679-681)gaadel	p.E228del	TBP_ENST00000230354.6_Splice_Site_p.E228del|TBP_ENST00000540980.1_Splice_Site_p.E208del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	228					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TTTCCCTAGTGAAGAACAGTCCA	0.355																																																0																																										SO:0001630	splice_region_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.678-1GAA>-	6.37:g.170878704_170878706delGAA			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Del	DEL	ENST00000392092.2	37	CCDS5315.1																																																																																				0.355	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	In_Frame_Del	-	170878703	GAA	-	170878701	8	5	170	1	0	1	0	1	0	0	1	0	15649	1304	45	0	697	0	TBP	6	170878701	Splice_Site	DEL	GAA	TCGA-B0-5075-01A-01D-1462-08	15380652	170878701	236366	33	9812											
FBXL18	80028	broad.mit.edu;ucsc.edu	37	7	5541300	5541300	+	Silent	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr7:5541300G>A	ENST00000382368.3	-	3	723	c.600C>T	c.(598-600)taC>taT	p.Y200Y	FBXL18_ENST00000453700.3_Silent_p.Y200Y	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	200								p.Y200Y(2)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GAATCTCGAAGTAGAGCAGCA	0.647																																																2	Substitution - coding silent(2)	kidney(2)											21	26	24					7																	5541300		2056	4209	6265	SO:0001819	synonymous_variant	80028			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.600C>T	7.37:g.5541300G>A			Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	G	6.605	0.480032	0.12581	.	.	ENSG00000155034	ENST00000458142	.	.	.	5.4	4.32	0.51571	.	.	.	.	.	T	0.64182	0.2575	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62115	-0.6922	4	.	.	.	.	12.9446	0.58365	0.1351:0.0:0.8649:0.0	.	.	.	.	I	84	.	.	T	-	2	0	FBXL18	5507826	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.138000	0.31491	2.528000	0.85240	0.655000	0.94253	ACT		0.647	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		A	5541300	G	A	5541300	2	1	170	1	0	0	0	0	0	0	0	1	5716	1024	36	2		2	FBXL18	7	5541300	Silent	SNP	G	TCGA-B0-5075-01A-01D-1462-08		5541300	153597363	34	9813											
POU6F2	11281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	39247075	39247075	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr7:39247075A>T	ENST00000403058.1	+	5	521	c.367A>T	c.(367-369)Att>Ttt	p.I123F	POU6F2_ENST00000518318.2_Missense_Mutation_p.I123F|POU6F2_ENST00000559001.1_Missense_Mutation_p.I115F|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	123					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I123F(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCAATCCTCATTCCCTTCAA	0.597																																																1	Substitution - Missense(1)	kidney(1)											102	104	103					7																	39247075		2203	4300	6503	SO:0001583	missense	11281			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.367A>T	7.37:g.39247075A>T	ENSP00000384004:p.Ile123Phe		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	A	33	5.197428	0.94960	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.89746	-2.51;-2.56	6.17	6.17	0.99709	.	1.685670	0.03119	N	0.163488	D	0.94528	0.8238	L	0.50333	1.59	0.53005	D	0.999963	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.986	T	0.82727	-0.0314	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	123;123	P78424-2;P78424	.;PO6F2_HUMAN	F	123;123;124	ENSP00000384004:I123F;ENSP00000430514:I123F	ENSP00000384004:I123F	I	+	1	0	POU6F2	39213600	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	ATT		0.597	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		T	39247075	A	T	39247075	3	4	170	1	0	0	0	0	1	0	0	0	12287	217	8	5	381	5	POU6F2	7	39247075	Missense_Mutation	SNP	A	TCGA-B0-5075-01A-01D-1462-08	33705775	39247075	119891588	35	9814											
AMAC1L2	83650	broad.mit.edu;hgsc.bcm.edu	37	8	11188632	11188632	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr8:11188632C>A	ENST00000382435.4	+	1	236	c.17C>A	c.(16-18)cCc>cAc	p.P6H		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	6						integral component of membrane (GO:0016021)		p.P6H(1)									GGCAGTCACCCCTACTTCAAC	0.642																																																1	Substitution - Missense(1)	kidney(1)											46	47	47					8																	11188632		2202	4298	6500	SO:0001583	missense	0			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.17C>A	8.37:g.11188632C>A	ENSP00000371872:p.Pro6His		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336636	0.41398	.	.	ENSG00000177710	ENST00000382435	T	0.37058	1.22	0.34	0.34	0.15985	.	0.155085	0.30093	N	0.010435	T	0.39145	0.1067	N	0.24115	0.695	0.26545	N	0.974001	D	0.89917	1.0	D	0.85130	0.997	T	0.14587	-1.0467	9	0.72032	D	0.01	-11.4858	.	.	.	.	6	Q96KT7	S35G5_HUMAN	H	6	ENSP00000371872:P6H	ENSP00000371872:P6H	P	+	2	0	SLC35G5	11226042	0.597000	0.26874	0.979000	0.43373	0.354000	0.29330	0.657000	0.24963	0.426000	0.26116	0.089000	0.15464	CCC		0.642	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11188632	C	A	11188632	3	1	170	1	0	0	0	0	1	0	0	0	560	623	22	4	19	4	AMAC1L2	8	11188632	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08		11188632	135175390	36	9815											
MTUS1	57509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	17612616	17612616	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr8:17612616G>T	ENST00000262102.6	-	2	925	c.701C>A	c.(700-702)aCa>aAa	p.T234K	MTUS1_ENST00000381869.3_Missense_Mutation_p.T234K|MTUS1_ENST00000381862.3_Missense_Mutation_p.T234K|MTUS1_ENST00000519263.1_Missense_Mutation_p.T234K	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	234					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T234K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTCTGATGGTGTGACTTGAGG	0.393																																																1	Substitution - Missense(1)	kidney(1)											191	166	174					8																	17612616		1903	4125	6028	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.701C>A	8.37:g.17612616G>T	ENSP00000262102:p.Thr234Lys		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575404	0.28092	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.20069	3.1;3.09;3.1;2.1	4.14	2.31	0.28768	.	0.802457	0.11048	N	0.605308	T	0.14013	0.0339	L	0.27053	0.805	0.09310	N	1	B;B;B	0.32829	0.386;0.386;0.386	B;B;B	0.33521	0.165;0.087;0.124	T	0.27673	-1.0067	9	.	.	.	0.3378	7.3872	0.26888	0.0886:0.0:0.745:0.1664	.	234;234;234	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	K	234	ENSP00000371293:T234K;ENSP00000262102:T234K;ENSP00000430167:T234K;ENSP00000371286:T234K	.	T	-	2	0	MTUS1	17656896	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.252000	0.08806	0.681000	0.31386	0.655000	0.94253	ACA		0.393	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		T	17612616	G	T	17612616	3	4	170	1	0	0	0	0	1	0	0	0	9967	1377	48	4	3486	4	MTUS1	8	17612616	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	6423984	17612616	128751406	37	9816											
XPO7	23039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	21840307	21840307	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr8:21840307G>C	ENST00000252512.9	+	11	1361	c.1261G>C	c.(1261-1263)Gtg>Ctg	p.V421L	XPO7_ENST00000433566.4_Missense_Mutation_p.V422L|XPO7_ENST00000434536.1_Missense_Mutation_p.V430L	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	421				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)	p.V421L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GTTGGAATCTGTGCACATCAT	0.517																																																1	Substitution - Missense(1)	kidney(1)											153	152	152					8																	21840307		2036	4206	6242	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1261G>C	8.37:g.21840307G>C	ENSP00000252512:p.Val421Leu		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358393	0.95854	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.65549	-0.16;-0.16;-0.16	5.84	5.84	0.93424	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81880	0.4916	M	0.88512	2.96	0.80722	D	1	D;P;B	0.65815	0.995;0.691;0.353	D;B;B	0.65443	0.935;0.414;0.188	T	0.79904	-0.1606	10	0.28530	T	0.3	-17.3276	19.7463	0.96253	0.0:0.0:1.0:0.0	.	422;430;421	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	L	430;421;422	ENSP00000404853:V430L;ENSP00000252512:V421L;ENSP00000410249:V422L	ENSP00000252512:V421L	V	+	1	0	XPO7	21896253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.946000	0.87746	2.771000	0.95319	0.655000	0.94253	GTG		0.517	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		C	21840307	G	C	21840307	3	2	170	1	0	0	0	0	1	0	0	0	17454	1377	48	4	1355	4	XPO7	8	21840307	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	4227691	21840307	124523715	38	9817											
VCPIP1	80124	hgsc.bcm.edu;ucsc.edu	37	8	67546975	67546980	+	In_Frame_Del	DEL	CAACTT	CAACTT	-			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	CAACTT	CAACTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr8:67546975_67546980delCAACTT	ENST00000310421.4	-	3	3683_3688	c.3425_3430delAAGTTG	c.(3424-3432)gaagttgtg>gtg	p.EV1142del		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1142					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GAAGAACTCACAACTTCTGTTTTCCT	0.422																																					NSCLC(179;265 2915 6144 43644)											0																																										SO:0001651	inframe_deletion	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3425_3430delAAGTTG	8.37:g.67546975_67546980delCAACTT	ENSP00000309031:p.Glu1142_Val1143del		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	In_Frame_Del	DEL	ENST00000310421.4	37	CCDS6192.1																																																																																				0.422	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			-	67546980	CAACTT	-	67546975	7	5	170	1	0	1	0	1	0	0	0	0	17146	478	17	0	242	0	VCPIP1	8	67546975	In_Frame_Del	DEL	CAACTT	TCGA-B0-5075-01A-01D-1462-08	45706668	67546975	78817047	39	9818											
UQCRB	7381	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	97244062	97244062	+	Silent	SNP	T	T	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr8:97244062T>A	ENST00000287022.5	-	3	301	c.198A>T	c.(196-198)gcA>gcT	p.A66A	UQCRB_ENST00000523920.1_Silent_p.A66A|UQCRB_ENST00000517523.1_Silent_p.A34A|UQCRB_ENST00000518406.1_Silent_p.A66A	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	66					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)		p.A66A(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TCAGGTCCAGTGCCCTCTTAA	0.413																																																1	Substitution - coding silent(1)	kidney(1)											176	156	163					8																	97244062		2203	4300	6503	SO:0001819	synonymous_variant	7381			X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"Mitochondrial respiratory chain complex / Complex III"	12582	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VI", "cytochrome b-c1 complex subunit 7"	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.198A>T	8.37:g.97244062T>A			E5RJU0|Q6FGD1	Silent	SNP	ENST00000287022.5	37	CCDS6269.1																																																																																				0.413	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	NM_006294		A	97244062	T	A	97244062	2	1	170	1	0	0	0	0	0	0	0	1	17023	1683	59	5		5	UQCRB	8	97244062	Silent	SNP	T	TCGA-B0-5075-01A-01D-1462-08	29697087	97244062	49119960	40	9819											
UBR5	51366	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	103341598	103341598	+	Silent	SNP	A	A	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr8:103341598A>G	ENST00000520539.1	-	10	1734	c.1128T>C	c.(1126-1128)gcT>gcC	p.A376A	UBR5_ENST00000521922.1_Silent_p.A370A|UBR5_ENST00000220959.4_Silent_p.A376A	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	376					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.A376A(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGAATACAGAGCCCCAATAC	0.333																																					Ovarian(131;96 1741 5634 7352 27489)											1	Substitution - coding silent(1)	kidney(1)											113	123	120					8																	103341598		2203	4300	6503	SO:0001819	synonymous_variant	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1128T>C	8.37:g.103341598A>G			B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	CCDS34933.1																																																																																				0.333	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		G	103341598	A	G	103341598	2	3	170	1	0	0	0	0	0	0	0	1	16910	291	11	3		3	UBR5	8	103341598	Silent	SNP	A	TCGA-B0-5075-01A-01D-1462-08	6097536	103341598	43022424	41	9820											
DENND3	22898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	142178354	142178354	+	Silent	SNP	C	C	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr8:142178354C>A	ENST00000262585.2	+	13	2043	c.1765C>A	c.(1765-1767)Cgg>Agg	p.R589R	DENND3_ENST00000424248.1_Silent_p.R537R|DENND3_ENST00000519811.1_Silent_p.R669R	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	589					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R589R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AACAGACATACGGATCTTTCC	0.557																																																1	Substitution - coding silent(1)	kidney(1)											99	103	102					8																	142178354		2203	4300	6503	SO:0001819	synonymous_variant	22898			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1765C>A	8.37:g.142178354C>A			B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	2.871	-0.233885	0.05983	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.56	-10.1	0.00402	.	.	.	.	.	T	0.27765	0.0683	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33624	-0.9861	4	.	.	.	-14.9305	11.0772	0.48038	0.5438:0.2152:0.2409:0.0	.	.	.	.	K	593	.	.	T	+	2	0	DENND3	142247536	0.000000	0.05858	0.000000	0.03702	0.470000	0.32858	-0.498000	0.06420	-1.381000	0.02112	-0.467000	0.05162	ACG		0.557	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		A	142178354	C	A	142178354	2	1	170	1	0	0	0	0	0	0	0	1	4434	527	19	4		4	DENND3	8	142178354	Silent	SNP	C	TCGA-B0-5075-01A-01D-1462-08	38836756	142178354	4185668	42	9821											
SPATC1	375686	broad.mit.edu	37	8	145096167	145096167	+	Silent	SNP	T	T	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr8:145096167T>G	ENST00000377470.3	+	4	1443	c.1341T>G	c.(1339-1341)ggT>ggG	p.G447G	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	447						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.G447G(1)|p.G356G(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTGGTGGGTGAGATTGCCT	0.622																																																2	Substitution - coding silent(2)	kidney(2)											69	52	57					8																	145096167		2203	4300	6503	SO:0001819	synonymous_variant	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1341T>G	8.37:g.145096167T>G			B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	CCDS6413.2																																																																																				0.622	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		G	145096167	T	G	145096167	2	3	170	1	0	0	0	0	0	0	0	1	15022	1683	59	5		5	SPATC1	8	145096167	Silent	SNP	T	TCGA-B0-5075-01A-01D-1462-08	2917813	145096167	1267855	43	9822											
TXN	7295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113007067	113007067	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr9:113007067C>G	ENST00000374517.5	-	4	450	c.246G>C	c.(244-246)aaG>aaC	p.K82N	TXN_ENST00000487892.1_5'UTR|TXN_ENST00000374515.5_Missense_Mutation_p.K62N	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	82	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|glycerol ether metabolic process (GO:0006662)|innate immune response (GO:0045087)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oxidation-reduction process (GO:0055114)|positive regulation of DNA binding (GO:0043388)|regulation of protein import into nucleus, translocation (GO:0033158)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	peptide disulfide oxidoreductase activity (GO:0015037)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)	p.K82N(1)		kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		CCTTTTGTCCCTTCTTAAAAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											175	166	169					9																	113007067		2203	4300	6503	SO:0001583	missense	7295			X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810			12435	protein-coding gene	gene with protein product		187700					Standard	NM_003329		Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.246G>C	9.37:g.113007067C>G	ENSP00000363641:p.Lys82Asn		B1ALW1|O60744|Q53X69|Q96KI3|Q9UDG5	Missense_Mutation	SNP	ENST00000374517.5	37	CCDS35103.1	.	.	.	.	.	.	.	.	.	.	C	3.177	-0.168680	0.06461	.	.	ENSG00000136810	ENST00000374517;ENST00000374515	T;T	0.18810	4.03;2.19	5.67	2.55	0.30701	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.108823	0.64402	D	0.000012	T	0.03915	0.0110	N	0.00422	-1.515	0.38069	D	0.936307	B;B	0.12013	0.005;0.005	B;B	0.15484	0.007;0.013	T	0.35475	-0.9787	10	0.02654	T	1	-6.7777	6.4373	0.21831	0.4821:0.4275:0.0:0.0904	.	62;82	B1ALW1;P10599	.;THIO_HUMAN	N	82;62	ENSP00000363641:K82N;ENSP00000363639:K62N	ENSP00000363639:K62N	K	-	3	2	TXN	112046888	0.984000	0.35163	1.000000	0.80357	0.992000	0.81027	0.079000	0.14782	0.736000	0.32559	0.561000	0.74099	AAG		0.393	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053614.1			G	113007067	C	G	113007067	3	3	170	1	0	0	0	0	1	0	0	0	16795	680	24	4	79	4	TXN	9	113007067	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08		113007067	28206364	44	9823											
AKNA	80709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	117106062	117106062	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr9:117106062G>T	ENST00000307564.4	-	19	3844	c.3683C>A	c.(3682-3684)tCc>tAc	p.S1228Y	AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.S1147Y|AKNA_ENST00000223791.3_Missense_Mutation_p.S688Y|AKNA_ENST00000374079.4_Missense_Mutation_p.S173Y|AKNA_ENST00000374088.3_Missense_Mutation_p.S1228Y	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1228					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S1228Y(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGCCTTAGGGGACAGAACATG	0.522																																																1	Substitution - Missense(1)	kidney(1)											87	86	86					9																	117106062		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3683C>A	9.37:g.117106062G>T	ENSP00000303769:p.Ser1228Tyr		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.725|4.725	0.134793|0.134793	0.09032|0.09032	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000320310|ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	.|T;T;T;T;T	.|0.20069	.|2.52;2.1;2.52;2.29;2.51	4.06|4.06	2.23|2.23	0.28157|0.28157	.|.	.|1.020720	.|0.07815	.|N	.|0.958750	.|T	.|0.18964	.|0.0455	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|P;P	.|0.39782	.|0.561;0.688	.|B;B	.|0.40444	.|0.176;0.329	.|T	.|0.24512	.|-1.0158	.|10	.|0.72032	.|D	.|0.01	.|-4.9867	6.3913|6.3913	0.21589|0.21589	0.2183:0.0:0.7817:0.0|0.2183:0.0:0.7817:0.0	.|.	.|1228;1147	.|Q7Z591;Q7Z591-2	.|AKNA_HUMAN;.	.|Y	-1|1228;173;1228;688;1147	.|ENSP00000303769:S1228Y;ENSP00000363192:S173Y;ENSP00000363201:S1228Y;ENSP00000223791:S688Y;ENSP00000363188:S1147Y	.|ENSP00000223791:S688Y	.|S	-|-	.|2	.|0	AKNA|AKNA	116145883|116145883	0.944000|0.944000	0.32072|0.32072	0.099000|0.099000	0.21106|0.21106	0.025000|0.025000	0.11179|0.11179	1.574000|1.574000	0.36482|0.36482	0.689000|0.689000	0.31550|0.31550	0.650000|0.650000	0.86243|0.86243	.|TCC		0.522	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		T	117106062	G	T	117106062	3	4	170	1	0	0	0	0	1	0	0	0	463	1174	41	4	652	4	AKNA	9	117106062	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	4098995	117106062	24107369	45	9824											
DEC1	50514	broad.mit.edu;hgsc.bcm.edu	37	9	118163493	118163493	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr9:118163493A>G	ENST00000374016.1	+	7	628	c.109A>G	c.(109-111)Aga>Gga	p.R37G		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	37					negative regulation of cell proliferation (GO:0008285)			p.R37G(1)		kidney(1)|large_intestine(1)|ovary(1)	3						TGCCCTGCACAGAGAGAGGTC	0.473																																																1	Substitution - Missense(1)	kidney(1)											118	119	119					9																	118163493		2203	4300	6503	SO:0001583	missense	50514			AB022761	CCDS6812.1	9q32	2008-02-05			ENSG00000173077	ENSG00000173077			23658	protein-coding gene	gene with protein product		604767				8603412, 10612805	Standard	NM_017418		Approved	CTS9	uc004bjk.1	Q9P2X7	OTTHUMG00000020549	ENST00000374016.1:c.109A>G	9.37:g.118163493A>G	ENSP00000363128:p.Arg37Gly			Missense_Mutation	SNP	ENST00000374016.1	37	CCDS6812.1	.	.	.	.	.	.	.	.	.	.	A	3.734	-0.055012	0.07362	.	.	ENSG00000173077	ENST00000374016	T	0.58358	0.34	3.57	-5.35	0.02697	.	.	.	.	.	T	0.31451	0.0797	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29305	-1.0016	8	0.87932	D	0	.	0.1376	0.00080	0.283:0.259:0.196:0.2621	.	37	Q9P2X7	DEC1_HUMAN	G	37	ENSP00000363128:R37G	ENSP00000363128:R37G	R	+	1	2	DEC1	117203314	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.922000	0.04004	-1.271000	0.02430	-1.292000	0.01352	AGA		0.473	DEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053791.1	NM_017418		G	118163493	A	G	118163493	3	3	170	1	0	0	0	0	1	0	0	0	4383	180	7	3	119	3	DEC1	9	118163493	Missense_Mutation	SNP	A	TCGA-B0-5075-01A-01D-1462-08	1057431	118163493	23049938	46	9825											
SLC2A6	11182	hgsc.bcm.edu;ucsc.edu	37	9	136340534	136340534	+	Silent	SNP	G	G	A	rs115835881	byFrequency	TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr9:136340534G>A	ENST00000371899.4	-	5	839	c.762C>T	c.(760-762)aaC>aaT	p.N254N	SLC2A6_ENST00000371897.4_Silent_p.N254N|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	254					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GTCTCCGGACGTTGTCCTGGA	0.667													G|||	63	0.0125799	0.0454	0.0043	5008	,	,		16717	0.0		0.0	False		,,,				2504	0.0															0								G	,	202,4202	120.0+/-157.7	4,194,2004	40	30	34		762,762	0.3	1	9	dbSNP_132	34	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous,coding-synonymous	SLC2A6	NM_001145099.1,NM_017585.3	,	4,197,6300	AA,AG,GG		0.0349,4.5867,1.5767	,	254/446,254/508	136340534	205,12797	2202	4299	6501	SO:0001819	synonymous_variant	11182			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.762C>T	9.37:g.136340534G>A			A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	ENST00000371899.4	37	CCDS6975.1	30	0.013736263736263736	27	0.054878048780487805	3	0.008287292817679558	0	0.0	0	0.0	G	13.61	2.288037	0.40494	0.045867	3.49E-4	ENSG00000160326	ENST00000432868	D	0.91011	-2.77	5.39	0.337	0.15966	.	.	.	.	.	T	0.70596	0.3242	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.79443	-0.1801	6	0.56958	D	0.05	.	9.8337	0.40956	0.348:0.0:0.652:0.0	.	.	.	.	M	216	ENSP00000405124:T216M	ENSP00000405124:T216M	T	-	2	0	SLC2A6	135330355	0.084000	0.21492	0.984000	0.44739	0.870000	0.49936	-0.136000	0.10405	0.013000	0.14918	-1.036000	0.02392	ACG		0.667	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		A	136340534	G	A	136340534	2	1	170	1	0	0	0	0	0	0	0	1	14555	1136	40	1		1	SLC2A6	9	136340534	Silent	SNP	G	TCGA-B0-5075-01A-01D-1462-08	18177041	136340534	4872897	47	9826											
GRID1	2894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	87407078	87407078	+	Silent	SNP	G	G	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr10:87407078G>T	ENST00000327946.7	-	13	2159	c.2074C>A	c.(2074-2076)Cga>Aga	p.R692R	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Silent_p.R263R|RN7SKP238_ENST00000516483.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	692					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R692R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCCTTGGCTCGGAAGTACTCA	0.552										Multiple Myeloma(13;0.14)																																						1	Substitution - coding silent(1)	kidney(1)											277	259	265					10																	87407078		2203	4300	6503	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2074C>A	10.37:g.87407078G>T			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																				0.552	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		T	87407078	G	T	87407078	2	4	170	1	0	0	0	0	0	0	0	1	6773	1124	39	4		4	GRID1	10	87407078	Silent	SNP	G	TCGA-B0-5075-01A-01D-1462-08		87407078	48127669	48	9827											
MMRN2	79812	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	88702115	88702115	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr10:88702115C>G	ENST00000372027.5	-	6	2747	c.2426G>C	c.(2425-2427)gGg>gCg	p.G809A	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	809					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G809A(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGGCACAGGCCCTGTGACCCG	0.647																																																1	Substitution - Missense(1)	kidney(1)											76	71	72					10																	88702115		2203	4300	6503	SO:0001583	missense	79812			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2426G>C	10.37:g.88702115C>G	ENSP00000361097:p.Gly809Ala		Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	1.689	-0.504562	0.04261	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.14640	2.49	5.19	3.29	0.37713	.	0.464235	0.19156	N	0.121327	T	0.10208	0.0250	M	0.71581	2.175	0.09310	N	1	P;P;P	0.43788	0.817;0.524;0.524	B;B;B	0.28849	0.095;0.084;0.095	T	0.25502	-1.0130	10	0.11794	T	0.64	-19.3901	6.7154	0.23300	0.175:0.7331:0.0:0.0918	.	587;748;809	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	A	809;587	ENSP00000361097:G809A	ENSP00000361097:G809A	G	-	2	0	MMRN2	88692095	0.000000	0.05858	0.002000	0.10522	0.180000	0.23129	-0.047000	0.11963	0.650000	0.30769	0.462000	0.41574	GGG		0.647	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		G	88702115	C	G	88702115	3	3	170	1	0	0	0	0	1	0	0	0	9673	623	22	4	431	4	MMRN2	10	88702115	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	1295037	88702115	46832632	49	9828											
TLL2	7093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	98273269	98273269	+	Splice_Site	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr10:98273269G>A	ENST00000357947.3	-	1	399	c.174C>T	c.(172-174)gcC>gcT	p.A58A	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	58					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A58A(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGCACCTACCGGCTTTGCAAG	0.642																																																1	Substitution - coding silent(1)	kidney(1)											52	49	50					10																	98273269		2202	4298	6500	SO:0001630	splice_region_variant	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.175+1C>T	10.37:g.98273269G>A			A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	CCDS7449.1																																																																																				0.642	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		Silent	A	98273269	G	A	98273269	5	1	170	1	0	0	0	0	0	0	1	0	15951	1130	39	1	2957	1	TLL2	10	98273269	Splice_Site	SNP	G	TCGA-B0-5075-01A-01D-1462-08	9571154	98273269	37261478	50	9829											
SFXN4	119559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	120917388	120917388	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr10:120917388T>G	ENST00000355697.2	-	8	485	c.466A>C	c.(466-468)Agt>Cgt	p.S156R	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.S147R	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	156					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.S156R(1)		central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		CTCACGTAACTTCTGTTTCCA	0.408																																																1	Substitution - Missense(1)	kidney(1)											120	116	118					10																	120917388		2203	4300	6503	SO:0001583	missense	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.466A>C	10.37:g.120917388T>G	ENSP00000347924:p.Ser156Arg		Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286048	0.59867	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131;ENST00000419372	T;T;T	0.32023	1.47;1.47;1.47	4.64	4.64	0.57946	.	0.188882	0.44483	D	0.000458	T	0.50086	0.1595	M	0.68952	2.095	0.09310	N	0.999999	D	0.76494	0.999	D	0.75020	0.985	T	0.40059	-0.9583	10	0.56958	D	0.05	-15.5373	10.6157	0.45449	0.0:0.0:0.0:1.0	.	156	Q6P4A7	SFXN4_HUMAN	R	156;147;39;40;40	ENSP00000347924:S156R;ENSP00000333200:S147R;ENSP00000358127:S40R	ENSP00000333200:S147R	S	-	1	0	SFXN4	120907378	0.037000	0.19845	0.110000	0.21437	0.063000	0.16089	3.062000	0.49971	2.066000	0.61787	0.528000	0.53228	AGT		0.408	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		G	120917388	T	G	120917388	3	3	170	1	0	0	0	0	1	0	0	0	14203	1609	56	5	575	5	SFXN4	10	120917388	Missense_Mutation	SNP	T	TCGA-B0-5075-01A-01D-1462-08	22644119	120917388	14617359	51	9830											
WDR11	55717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	122663626	122663626	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr10:122663626G>A	ENST00000263461.6	+	24	3245	c.2999G>A	c.(2998-3000)tGt>tAt	p.C1000Y	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.C1000Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ACAAGGAAATGTACAGACCAG	0.338																																																1	Substitution - Missense(1)	kidney(1)											110	110	110					10																	122663626		2203	4300	6503	SO:0001583	missense	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2999G>A	10.37:g.122663626G>A	ENSP00000263461:p.Cys1000Tyr		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004802	0.93287	.	.	ENSG00000120008	ENST00000263461	D	0.91577	-2.87	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94860	0.8339	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.76494	0.998;0.995;0.999;0.99	D;D;D;P	0.78314	0.991;0.986;0.952;0.643	D	0.94614	0.7807	10	0.72032	D	0.01	-19.3312	20.1802	0.98196	0.0:0.0:1.0:0.0	.	1000;1000;291;529	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	Y	1000	ENSP00000263461:C1000Y	ENSP00000263461:C1000Y	C	+	2	0	WDR11	122653616	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	8.816000	0.91979	2.777000	0.95525	0.655000	0.94253	TGT		0.338	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			A	122663626	G	A	122663626	3	1	170	1	0	0	0	0	1	0	0	0	17278	1377	48	2	3093	2	WDR11	10	122663626	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	1746238	122663626	12871121	52	9831											
MUC2	4583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1086012	1086012	+	Missense_Mutation	SNP	C	C	T	rs575288673		TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr11:1086012C>T	ENST00000441003.2	+	22	2879	c.2852C>T	c.(2851-2853)aCg>aTg	p.T951M	MUC2_ENST00000359061.5_Missense_Mutation_p.T951M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	951	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T951M(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCTACACCACGCGGGAGGTG	0.617																																																2	Substitution - Missense(2)	kidney(2)											47	55	53					11																	1086012		2150	4229	6379	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2852C>T	11.37:g.1086012C>T	ENSP00000415183:p.Thr951Met		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	c	10.39	1.338193	0.24253	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.59906	0.23;0.23	3.85	1.95	0.26073	.	0.739095	0.11923	N	0.516434	T	0.48187	0.1486	L	0.37561	1.115	0.09310	N	1	P	0.48764	0.915	P	0.48425	0.577	T	0.42241	-0.9463	10	0.66056	D	0.02	.	1.1477	0.01779	0.2183:0.4402:0.1395:0.202	.	951	E7EUV1	.	M	951	ENSP00000415183:T951M;ENSP00000351956:T951M	ENSP00000351956:T951M	T	+	2	0	MUC2	1076012	0.033000	0.19621	0.104000	0.21259	0.893000	0.52053	0.321000	0.19558	0.312000	0.23038	0.486000	0.48141	ACG		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1086012	C	T	1086012	3	4	170	1	0	0	0	0	1	0	0	0	9977	536	19	1	2938	1	MUC2	11	1086012	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08		1086012	133920504	53	9832											
MUC2	4583	broad.mit.edu	37	11	1090371	1090371	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr11:1090371C>A	ENST00000441003.2	+	27	3694	c.3667C>A	c.(3667-3669)Ccg>Acg	p.P1223T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron|MUC2_ENST00000361558.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1223					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.P1223T(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGTCTGCAGGCCGGAGGAAGG	0.657																																																1	Substitution - Missense(1)	kidney(1)											60	65	63					11																	1090371		2190	4277	6467	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3667C>A	11.37:g.1090371C>A	ENSP00000415183:p.Pro1223Thr		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	c	1.990	-0.431969	0.04669	.	.	ENSG00000198788	ENST00000441003	T	0.12465	2.68	2.43	-2.26	0.06867	.	.	.	.	.	T	0.05868	0.0153	N	0.22421	0.69	0.09310	N	1	B	0.19073	0.033	B	0.19148	0.024	T	0.43032	-0.9416	9	0.05959	T	0.93	.	3.326	0.07067	0.0:0.3408:0.2161:0.4431	.	1223	E7EUV1	.	T	1223	ENSP00000415183:P1223T	ENSP00000415183:P1223T	P	+	1	0	MUC2	1080371	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.728000	0.04925	-0.534000	0.06315	0.441000	0.28932	CCG		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1090371	C	A	1090371	3	1	170	1	0	0	0	0	1	0	0	0	9977	739	26	4	3773	4	MUC2	11	1090371	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	4359	1090371	133916145	54	9833											
LDHC	3948	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18460186	18460186	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr11:18460186delT	ENST00000541669.1	+	6	815	c.704delT	c.(703-705)attfs	p.I235fs	LDHC_ENST00000544105.1_Frame_Shift_Del_p.I235fs|LDHC_ENST00000536880.1_Frame_Shift_Del_p.I221fs|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000546146.1_Frame_Shift_Del_p.I177fs|LDHC_ENST00000280704.4_Frame_Shift_Del_p.I235fs|LDHC_ENST00000535809.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	235					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAACAAGTTATTCAAAGGTAA	0.358																																																0													98	91	93					11																	18460186		2199	4293	6492	SO:0001589	frameshift_variant	3948			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"cancer/testis antigen 32"	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.704delT	11.37:g.18460186delT	ENSP00000437783:p.Ile235fs		D3DQY4|Q6GSG8|Q7Z7J4	Frame_Shift_Del	DEL	ENST00000541669.1	37	CCDS7840.1																																																																																				0.358	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		-	18460186	T	-	18460186	7	5	170	1	0	1	0	1	0	0	0	0	8704	1493	52	0	722	0	LDHC	11	18460186	Frame_Shift_Del	DEL	T	TCGA-B0-5075-01A-01D-1462-08	17369815	18460186	116546330	55	9834											
SPRYD5	84767	broad.mit.edu;ucsc.edu	37	11	55653128	55653128	+	Missense_Mutation	SNP	T	T	A	rs200343592	byFrequency	TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr11:55653128T>A	ENST00000449290.2	+	2	316	c.224T>A	c.(223-225)tTc>tAc	p.F75Y	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	75						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.F75Y(1)									AACATGGCTTTCATTGCCAGA	0.473																																																1	Substitution - Missense(1)	kidney(1)											26	22	23					11																	55653128		692	1591	2283	SO:0001583	missense	0			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.224T>A	11.37:g.55653128T>A	ENSP00000395086:p.Phe75Tyr		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	7.052	0.564746	0.13498	.	.	ENSG00000124900	ENST00000449290	D	0.84146	-1.81	0.803	-1.61	0.08399	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.65344	0.2682	N	0.08118	0	0.09310	N	1	B	0.26744	0.158	B	0.23716	0.048	T	0.50734	-0.8793	9	0.72032	D	0.01	.	2.3193	0.04207	0.4816:0.296:0.0:0.2223	.	75	Q9BSJ1	SPRY5_HUMAN	Y	75	ENSP00000395086:F75Y	ENSP00000395086:F75Y	F	+	2	0	SPRYD5	55409704	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.240000	0.08952	-1.515000	0.01784	-1.353000	0.01230	TTC		0.473	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		A	55653128	T	A	55653128	3	1	170	1	0	0	0	0	1	0	0	0	15116	1783	62	5	226	5	SPRYD5	11	55653128	Missense_Mutation	SNP	T	TCGA-B0-5075-01A-01D-1462-08	37192942	55653128	79353388	56	9835											
SLC22A9	114571	broad.mit.edu;hgsc.bcm.edu	37	11	63175588	63175588	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr11:63175588G>A	ENST00000279178.3	+	8	1542	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	431					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.M431I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTCCAGAAATGCAGACGCTGC	0.478																																																1	Substitution - Missense(1)	kidney(1)											77	72	74					11																	63175588		2201	4298	6499	SO:0001583	missense	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1293G>A	11.37:g.63175588G>A	ENSP00000279178:p.Met431Ile		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557516	0.45590	.	.	ENSG00000149742	ENST00000279178	T	0.58210	0.35	2.46	-0.565	0.11771	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.497971	0.22716	N	0.056506	T	0.69070	0.3070	M	0.90252	3.1	0.38373	D	0.944912	D	0.76494	0.999	D	0.71656	0.974	T	0.67205	-0.5729	10	0.51188	T	0.08	.	5.1628	0.15070	0.4586:0.0:0.5414:0.0	.	431	Q8IVM8	S22A9_HUMAN	I	431	ENSP00000279178:M431I	ENSP00000279178:M431I	M	+	3	0	SLC22A9	62932164	1.000000	0.71417	0.526000	0.27913	0.643000	0.38383	1.403000	0.34612	-0.124000	0.11724	0.205000	0.17691	ATG		0.478	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		A	63175588	G	A	63175588	3	1	170	1	0	0	0	0	1	0	0	0	14467	1319	46	2	1323	2	SLC22A9	11	63175588	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	7522460	63175588	71830928	57	9836											
TM7SF2	7108	broad.mit.edu	37	11	64879505	64879505	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr11:64879505delC	ENST00000279263.7	+	1	180	c.18delC	c.(16-18)ggcfs	p.G6fs	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_5'UTR|TM7SF2_ENST00000345348.5_Frame_Shift_Del_p.G6fs	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	6					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACTCAGGGCCCCCGGGCCC	0.642																																																0													12	14	14					11																	64879505		1800	4066	5866	SO:0001589	frameshift_variant	7108			BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.18delC	11.37:g.64879505delC	ENSP00000279263:p.Gly6fs		A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Frame_Shift_Del	DEL	ENST00000279263.7	37	CCDS41669.1																																																																																				0.642	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		-	64879505	C	-	64879505	7	5	170	1	0	1	0	1	0	0	0	0	15979	726	26	0	20	0	TM7SF2	11	64879505	Frame_Shift_Del	DEL	C	TCGA-B0-5075-01A-01D-1462-08	1703917	64879505	70127011	58	9837											
AASDHPPT	60496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	105962108	105962108	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr11:105962108A>T	ENST00000278618.4	+	4	819	c.597A>T	c.(595-597)gaA>gaT	p.E199D	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	199					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.E199D(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AGCGGCTTGAATTTGATCTAT	0.363																																																1	Substitution - Missense(1)	kidney(1)											107	117	114					11																	105962108		2200	4299	6499	SO:0001583	missense	60496			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.597A>T	11.37:g.105962108A>T	ENSP00000278618:p.Glu199Asp		B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750876	0.49257	.	.	ENSG00000149313	ENST00000533423;ENST00000524411;ENST00000278618	.	.	.	5.77	3.13	0.36017	4&apos (2);-phosphopantetheinyl transferase (2);	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	L	0.58510	1.815	0.40843	D	0.983685	B	0.19706	0.038	B	0.25987	0.065	T	0.52968	-0.8504	9	0.33141	T	0.24	.	9.2163	0.37348	0.7747:0.0:0.2253:0.0	.	199	Q9NRN7	ADPPT_HUMAN	D	134;134;199	.	ENSP00000278618:E199D	E	+	3	2	AASDHPPT	105467318	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.563000	0.45922	1.020000	0.39573	0.477000	0.44152	GAA		0.363	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		T	105962108	A	T	105962108	3	4	170	1	0	0	0	0	1	0	0	0	23	98	4	5	611	5	AASDHPPT	11	105962108	Missense_Mutation	SNP	A	TCGA-B0-5075-01A-01D-1462-08	41082603	105962108	29044408	59	9838											
C12orf11	55726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	27059272	27059272	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr12:27059272T>A	ENST00000261191.7	-	16	2580	c.2044A>T	c.(2044-2046)Aga>Tga	p.R682*	ASUN_ENST00000539625.1_Nonsense_Mutation_p.R581*	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	682					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R682*(1)									AGTTCAGCTCTGTTATTAACA	0.353																																																1	Substitution - Nonsense(1)	kidney(1)											133	139	137					12																	27059272		2202	4298	6500	SO:0001587	stop_gained	0			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.2044A>T	12.37:g.27059272T>A	ENSP00000261191:p.Arg682*		B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Nonsense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	T	37	6.140797	0.97320	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745	.	.	.	5.35	4.13	0.48395	.	0.051495	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-24.13	12.2507	0.54597	0.0:0.0:0.1417:0.8583	.	.	.	.	X	329;682;581;269	.	ENSP00000261191:R682X	R	-	1	2	C12orf11	26950539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.726000	0.61986	2.179000	0.69175	0.477000	0.44152	AGA		0.353	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		A	27059272	T	A	27059272	4	1	170	1	0	0	0	0	0	1	0	0	1677	1588	55	5	84	5	C12orf11	12	27059272	Nonsense_Mutation	SNP	T	TCGA-B0-5075-01A-01D-1462-08		27059272	106792623	60	9839											
GNS	2799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	65136922	65136922	+	Splice_Site	SNP	G	G	A	rs575544204		TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr12:65136922G>A	ENST00000258145.3	-	6	961	c.791C>T	c.(790-792)aCg>aTg	p.T264M	GNS_ENST00000418919.2_Splice_Site_p.T208M|GNS_ENST00000543646.1_Splice_Site_p.T296M|GNS_ENST00000542058.1_Splice_Site_p.T244M	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	264					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)	p.T264M(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		GGAAGCTACCGTTCCATGGAT	0.458																																																1	Substitution - Missense(1)	kidney(1)											217	208	211					12																	65136922		2203	4300	6503	SO:0001630	splice_region_variant	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.792+1C>T	12.37:g.65136922G>A			B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370620	0.24771	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471;ENST00000545273	D;D;D;D;D	0.99894	-4.6;-5.0;-4.63;-4.69;-7.58	5.47	-2.11	0.07187	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.358195	0.33732	N	0.004610	D	0.99130	0.9700	L	0.52126	1.63	0.33785	D	0.624746	B;B;B;B	0.24426	0.103;0.012;0.042;0.003	B;B;B;B	0.28011	0.085;0.013;0.046;0.003	D	0.99987	1.3452	9	.	.	.	-7.6662	5.1105	0.14806	0.4032:0.0:0.3582:0.2385	.	244;296;264;208	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	M	208;264;296;244;181;201;188	ENSP00000413130:T208M;ENSP00000258145:T264M;ENSP00000438497:T296M;ENSP00000444819:T244M;ENSP00000445055:T188M	.	T	-	2	0	GNS	63423189	1.000000	0.71417	0.994000	0.49952	0.677000	0.39632	1.659000	0.37387	-0.132000	0.11557	-1.073000	0.02249	ACG		0.458	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2		Missense_Mutation	A	65136922	G	A	65136922	5	1	170	1	0	0	0	0	0	0	1	0	6552	1159	40	1	903	1	GNS	12	65136922	Splice_Site	SNP	G	TCGA-B0-5075-01A-01D-1462-08	38077650	65136922	68714973	61	9840											
CAND1	55832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	67696132	67696132	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr12:67696132G>T	ENST00000545606.1	+	8	1467	c.1030G>T	c.(1030-1032)Gac>Tac	p.D344Y		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	344	Asp-rich.				cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.D344Y(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGATGATGATGACATGAGTTG	0.393																																																1	Substitution - Missense(1)	kidney(1)											200	191	194					12																	67696132		2203	4300	6503	SO:0001583	missense	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1030G>T	12.37:g.67696132G>T	ENSP00000442318:p.Asp344Tyr		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656993	0.88154	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	T;T	0.71817	-0.6;-0.6	5.29	5.29	0.74685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.91341	0.5097	9	.	.	.	-11.0003	19.3152	0.94208	0.0:0.0:1.0:0.0	.	344;344	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	Y	344;344;186;52	ENSP00000442318:D344Y;ENSP00000444089:D52Y	.	D	+	1	0	CAND1	65982399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.779000	0.99018	2.648000	0.89879	0.563000	0.77884	GAC		0.393	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		T	67696132	G	T	67696132	3	4	170	1	0	0	0	0	1	0	0	0	2617	1290	45	4	1060	4	CAND1	12	67696132	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	2559210	67696132	66155763	62	9841											
ANKS1B	56899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	99793525	99793525	+	Missense_Mutation	SNP	T	T	C	rs560515400		TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr12:99793525T>C	ENST00000547776.2	-	12	1639	c.1640A>G	c.(1639-1641)tAt>tGt	p.Y547C	ANKS1B_ENST00000329257.7_Missense_Mutation_p.Y547C|ANKS1B_ENST00000547010.1_Missense_Mutation_p.Y127C	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	547						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.Y547C(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GATTTCAAAATATTCTTGGTT	0.418													T|||	1	0.000199681	0.0	0.0	5008	,	,		16303	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											180	198	192					12																	99793525		1895	4116	6011	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1640A>G	12.37:g.99793525T>C	ENSP00000449629:p.Tyr547Cys		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.293890	0.60086	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.61040	0.95;0.14;0.95;0.87	5.73	5.73	0.89815	.	0.281820	0.30920	N	0.008603	T	0.58666	0.2138	L	0.36672	1.1	0.80722	D	1	D;D;P	0.61697	0.99;0.969;0.947	P;P;B	0.53593	0.726;0.73;0.339	T	0.57046	-0.7878	9	.	.	.	-10.5233	13.5328	0.61631	0.0:0.0:0.0:1.0	.	513;127;547	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	C	547;127;547;126;513	ENSP00000449629:Y547C;ENSP00000448512:Y127C;ENSP00000331381:Y547C;ENSP00000449894:Y513C	.	Y	-	2	0	ANKS1B	98317656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.708000	0.54845	2.184000	0.69523	0.477000	0.44152	TAT		0.418	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		C	99793525	T	C	99793525	3	2	170	1	0	0	0	0	1	0	0	0	689	1406	49	3	2454	3	ANKS1B	12	99793525	Missense_Mutation	SNP	T	TCGA-B0-5075-01A-01D-1462-08	32097393	99793525	34058370	63	9842											
TRPV4	59341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	110240804	110240804	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr12:110240804T>C	ENST00000418703.2	-	3	798	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	TRPV4_ENST00000541794.1_Missense_Mutation_p.Y235C|TRPV4_ENST00000261740.2_Missense_Mutation_p.Y235C|TRPV4_ENST00000537083.1_Missense_Mutation_p.Y235C|TRPV4_ENST00000392719.2_Missense_Mutation_p.Y235C|TRPV4_ENST00000346520.2_Missense_Mutation_p.Y235C|TRPV4_ENST00000544971.1_Missense_Mutation_p.Y235C|TRPV4_ENST00000536838.1_Missense_Mutation_p.Y201C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	235					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.Y235C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ACCTCGATAGTAGATGTCACG	0.607																																																1	Substitution - Missense(1)	kidney(1)											71	60	64					12																	110240804		2203	4300	6503	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.704A>G	12.37:g.110240804T>C	ENSP00000406191:p.Tyr235Cys		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528732	0.64860	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	4.51	4.51	0.55191	Ankyrin repeat-containing domain (1);	0.194522	0.46758	D	0.000269	T	0.73885	0.3644	L	0.27053	0.805	0.41466	D	0.988076	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.918;1.0	D;D;D;P;D	0.91635	0.996;0.988;0.996;0.749;0.999	T	0.74553	-0.3627	10	0.40728	T	0.16	-9.2943	12.9815	0.58567	0.0:0.0:0.0:1.0	.	235;235;235;235;201	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	235;235;235;235;235;235;235;201	ENSP00000406191:Y235C;ENSP00000261740:Y235C;ENSP00000376480:Y235C;ENSP00000319003:Y235C;ENSP00000443611:Y235C;ENSP00000442738:Y235C;ENSP00000442167:Y235C;ENSP00000444336:Y201C	ENSP00000261740:Y235C	Y	-	2	0	TRPV4	108725187	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	7.691000	0.84191	1.809000	0.52856	0.459000	0.35465	TAC		0.607	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		C	110240804	T	C	110240804	3	2	170	1	0	0	0	0	1	0	0	0	16603	1638	57	3	1963	3	TRPV4	12	110240804	Missense_Mutation	SNP	T	TCGA-B0-5075-01A-01D-1462-08	10447279	110240804	23611091	64	9843											
EBPL	84650	broad.mit.edu;hgsc.bcm.edu	37	13	50243946	50243947	+	Missense_Mutation	DNP	CG	CG	TT			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr13:50243946_50243947CG>TT	ENST00000242827.6	-	2	257_258	c.207_208CG>AA	c.(205-210)aaCGtt>aaAAtt	p.69_70NV>KI	EBPL_ENST00000378268.1_Missense_Mutation_p.69_70NV>KI|EBPL_ENST00000378284.2_Missense_Mutation_p.69_70NV>KI|EBPL_ENST00000378272.5_Missense_Mutation_p.69_70NV>KI|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000378282.5_Missense_Mutation_p.69_70NV>KI	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	69					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.N69K(1)|p.N69>?(1)|p.V70I(1)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GAATTTGCAACGTTTCCTACTA	0.401											OREG0022412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(39;857 1083 36109 42364 51411)											3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	84650			AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.207_208delinsTT	13.37:g.50243946_50243947delinsTT	ENSP00000242827:p.N69_V70delinsKI	968	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1																																																																																				0.401	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		TT	50243947	CG	TT	50243946	3	4	170	1	0	0	0	0	1	0	0	0	4889	536	19	1	424	1	EBPL	13	50243946	Missense_Mutation	DNP	CG	TCGA-B0-5075-01A-01D-1462-08		50243946	64925932	65	9844											
INSM2	84684	hgsc.bcm.edu;ucsc.edu	37	14	36005119	36005119	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr14:36005119delA	ENST00000307169.3	+	1	1872	c.1661delA	c.(1660-1662)caafs	p.Q554fs		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GAAAGCCGGCAAGTGCTGCTG	0.552																																																0													42	45	44					14																	36005119		2185	4254	6439	SO:0001589	frameshift_variant	84684			AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"Zinc fingers, C2H2-type"	17539	protein-coding gene	gene with protein product	"mlt 1"	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1661delA	14.37:g.36005119delA	ENSP00000306523:p.Gln554fs		A1L432|J9Y024|Q8N8K7|Q96Q84	Frame_Shift_Del	DEL	ENST00000307169.3	37	CCDS9657.1																																																																																				0.552	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			-	36005119	A	-	36005119	7	5	170	1	0	1	0	1	0	0	0	0	7774	130	5	0	1663	0	INSM2	14	36005119	Frame_Shift_Del	DEL	A	TCGA-B0-5075-01A-01D-1462-08		36005119	71344421	66	9845											
SEC23A	10484	broad.mit.edu;hgsc.bcm.edu	37	14	39511999	39511999	+	Nonsense_Mutation	SNP	A	A	C			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr14:39511999A>C	ENST00000307712.6	-	17	2494	c.1977T>G	c.(1975-1977)taT>taG	p.Y659*	SEC23A_ENST00000536508.1_Nonsense_Mutation_p.Y557*|SEC23A_ENST00000537403.1_Nonsense_Mutation_p.Y457*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.Y630*	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	659					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.Y659*(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CCTCACCATGATAAATCAAAA	0.338																																																1	Substitution - Nonsense(1)	kidney(1)											93	97	96					14																	39511999		2203	4300	6503	SO:0001587	stop_gained	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1977T>G	14.37:g.39511999A>C	ENSP00000306881:p.Tyr659*		B2R5P4|B3KXI2|Q8NE16	Nonsense_Mutation	SNP	ENST00000307712.6	37	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	A	43	10.044627	0.99324	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	.	.	.	5.55	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-17.2779	8.5012	0.33159	0.8543:0.0:0.1457:0.0	.	.	.	.	X	457;659;557;630	.	ENSP00000306881:Y659X	Y	-	3	2	SEC23A	38581750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.588000	0.46137	2.234000	0.73211	0.533000	0.62120	TAT		0.338	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			C	39511999	A	C	39511999	4	2	170	1	0	0	0	0	0	1	0	0	13997	340	12	5	336	5	SEC23A	14	39511999	Nonsense_Mutation	SNP	A	TCGA-B0-5075-01A-01D-1462-08	3506880	39511999	67837541	67	9846											
JMJD7	100137047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42127085	42127085	+	Missense_Mutation	SNP	A	A	G	rs148006565		TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr15:42127085A>G	ENST00000397299.4	+	2	252	c.212A>G	c.(211-213)tAt>tGt	p.Y71C	JMJD7_ENST00000408047.1_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.Y71C|PLA2G4B_ENST00000452633.1_5'Flank|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.Y71C|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.Y71C	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	71								p.Y71C(3)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						TCCCTCCCCTATTTCAGGTGG	0.622																																																3	Substitution - Missense(3)	kidney(3)						A	CYS/TYR,CYS/TYR,CYS/TYR	0,4406		0,0,2203	66	67	67		212,212,212	3.6	1	15	dbSNP_134	67	1,8599		0,1,4299	no	missense,missense,missense	JMJD7-PLA2G4B,JMJD7	NM_001114632.1,NM_001198588.1,NM_005090.3	194,194,194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	71/317,71/894,71/1013	42127085	1,13005	2203	4300	6503	SO:0001583	missense	100137047				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.212A>G	15.37:g.42127085A>G	ENSP00000380467:p.Tyr71Cys		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000397299.4	37	CCDS45240.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.032305	0.75504	0.0	1.16E-4	ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000542534;ENST00000382448;ENST00000342159	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.77	3.63	0.41609	.	0.000000	0.47455	D	0.000231	D	0.87362	0.6158	M	0.92604	3.325	0.80722	D	1	P;D;D	0.89917	0.617;1.0;1.0	B;D;D	0.81914	0.221;0.995;0.989	D	0.88993	0.3416	10	0.87932	D	0	-10.7494	9.7536	0.40490	0.9169:0.0:0.0831:0.0	.	71;71;71	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	C	71	ENSP00000380467:Y71C;ENSP00000441905:Y71C;ENSP00000371886:Y71C;ENSP00000342785:Y71C	ENSP00000380467:Y71C	Y	+	2	0	JMJD7-PLA2G4B;JMJD7	39914377	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.919000	0.70005	1.919000	0.55581	0.533000	0.62120	TAT		0.622	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326082.1	NM_001114632		G	42127085	A	G	42127085	3	3	170	1	0	0	0	0	1	0	0	0	7956	449	16	3	218	3	JMJD7	15	42127085	Missense_Mutation	SNP	A	TCGA-B0-5075-01A-01D-1462-08		42127085	60404307	68	9847											
THAP10	56906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	71174954	71174954	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr15:71174954G>T	ENST00000249861.4	-	3	1125	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	205							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L205M(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCATTACACAGTCTTTTTCCA	0.363																																																1	Substitution - Missense(1)	kidney(1)											121	116	118					15																	71174954		2199	4297	6496	SO:0001583	missense	56906			AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"THAP (C2CH-type zinc finger) domain containing"	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.613C>A	15.37:g.71174954G>T	ENSP00000249861:p.Leu205Met		B2R8R0	Missense_Mutation	SNP	ENST00000249861.4	37	CCDS10237.1	.	.	.	.	.	.	.	.	.	.	G	5.469	0.271648	0.10349	.	.	ENSG00000129028	ENST00000249861	.	.	.	2.89	2.89	0.33648	.	.	.	.	.	T	0.16214	0.0390	N	0.19112	0.55	0.09310	N	1	P	0.49090	0.919	B	0.34779	0.189	T	0.06463	-1.0825	8	0.45353	T	0.12	.	9.3393	0.38069	0.0:0.0:1.0:0.0	.	205	Q9P2Z0	THA10_HUMAN	M	205	.	ENSP00000249861:L205M	L	-	1	2	THAP10	68962008	0.865000	0.29922	0.002000	0.10522	0.208000	0.24298	1.477000	0.35431	1.628000	0.50416	0.460000	0.39030	CTG		0.363	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		T	71174954	G	T	71174954	3	4	170	1	0	0	0	0	1	0	0	0	15847	1020	36	4	164	4	THAP10	15	71174954	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	29047869	71174954	31356438	69	9848											
CCDC33	80125	broad.mit.edu;ucsc.edu	37	15	74622668	74622668	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr15:74622668G>A	ENST00000398814.3	+	12	1860	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	CCDC33_ENST00000558821.1_Missense_Mutation_p.G70S|CCDC33_ENST00000321288.5_Missense_Mutation_p.G680S|CCDC33_ENST00000268082.4_Missense_Mutation_p.G70S	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	680								p.G477S(1)|p.G70S(1)|p.G680S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGAGGGGCAGGGCAAAGCCAG	0.642																																																3	Substitution - Missense(3)	kidney(3)											32	43	39					15																	74622668		2046	4186	6232	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1429G>A	15.37:g.74622668G>A	ENSP00000381795:p.Gly477Ser		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	G	4.872	0.162004	0.09287	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.34072	1.38;2.46;2.09;2.09	4.62	1.03	0.20045	.	1.809800	0.02379	N	0.078623	T	0.19485	0.0468	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.14438	0.008;0.01;0.005;0.008	B;B;B;B	0.17433	0.013;0.018;0.006;0.003	T	0.17258	-1.0375	10	0.02654	T	1	.	3.4978	0.07661	0.2837:0.0:0.5259:0.1904	.	70;70;680;477	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	S	680;477;70;70	ENSP00000325012:G680S;ENSP00000381795:G477S;ENSP00000325661:G70S;ENSP00000268082:G70S	ENSP00000268082:G70S	G	+	1	0	CCDC33	72409721	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.472000	0.22116	0.345000	0.23873	0.643000	0.83706	GGC		0.642	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		A	74622668	G	A	74622668	3	1	170	1	0	0	0	0	1	0	0	0	2808	1232	43	2	1548	2	CCDC33	15	74622668	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	3447714	74622668	27908724	70	9849											
IL16	3603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	81601012	81601012	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr15:81601012C>T	ENST00000302987.4	+	18	3872	c.3872C>T	c.(3871-3873)gCc>gTc	p.A1291V	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.A590V|IL16_ENST00000394660.2_Missense_Mutation_p.A1290V			Q14005	IL16_HUMAN	interleukin 16	1291	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A1291V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGTGGCACTGCCATGCAGGGC	0.522																																																1	Substitution - Missense(1)	kidney(1)											99	87	91					15																	81601012		2203	4300	6503	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3872C>T	15.37:g.81601012C>T	ENSP00000302935:p.Ala1291Val		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659364	0.47467	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394652	T;T;T	0.27557	1.66;1.66;1.66	5.3	5.3	0.74995	PDZ/DHR/GLGF (4);	0.456522	0.18631	N	0.135597	T	0.24160	0.0585	L	0.31420	0.93	0.09310	N	1	P;B;B	0.36048	0.534;0.026;0.008	B;B;B	0.38458	0.274;0.056;0.013	T	0.16719	-1.0393	10	0.48119	T	0.1	.	9.0637	0.36449	0.0:0.7742:0.1487:0.0771	.	783;1291;1290	Q6ZTT5;Q14005;Q14005-2	.;IL16_HUMAN;.	V	1290;1122;1291;590	ENSP00000378155:A1290V;ENSP00000302935:A1291V;ENSP00000378147:A590V	ENSP00000302935:A1291V	A	+	2	0	IL16	79388067	0.000000	0.05858	0.343000	0.25615	0.937000	0.57800	0.441000	0.21611	2.462000	0.83206	0.655000	0.94253	GCC		0.522	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		T	81601012	C	T	81601012	3	4	170	1	0	0	0	0	1	0	0	0	7635	739	26	2	3942	2	IL16	15	81601012	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	6978344	81601012	20930380	71	9850											
RCCD1	91433	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91504264	91504264	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr15:91504264A>C	ENST00000394258.2	+	7	1161	c.959A>C	c.(958-960)gAg>gCg	p.E320A	RCCD1_ENST00000556618.1_Missense_Mutation_p.E320A|RCCD1_ENST00000555155.1_Missense_Mutation_p.E318A	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	320						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.E320A(1)		breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			GGAACAGGGGAGCTCTACACC	0.507																																																1	Substitution - Missense(1)	kidney(1)											102	100	101					15																	91504264		2198	4298	6496	SO:0001583	missense	91433				CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.959A>C	15.37:g.91504264A>C	ENSP00000377801:p.Glu320Ala		B2RTP9|Q29RX6	Missense_Mutation	SNP	ENST00000394258.2	37	CCDS32333.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.613035	0.87258	.	.	ENSG00000166965	ENST00000394258;ENST00000555155;ENST00000556618;ENST00000556333	D;D;D	0.84873	-1.91;-1.91;-1.91	5.65	5.65	0.86999	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.063667	0.64402	D	0.000008	D	0.84000	0.5376	L	0.39467	1.215	0.54753	D	0.999988	P;P	0.49783	0.911;0.928	P;P	0.50896	0.521;0.653	T	0.81254	-0.1016	10	0.20046	T	0.44	.	14.9067	0.70724	1.0:0.0:0.0:0.0	.	318;320	G3V2I3;A6NED2	.;RCCD1_HUMAN	A	320;318;320;109	ENSP00000377801:E320A;ENSP00000450678:E318A;ENSP00000451963:E320A	ENSP00000377801:E320A	E	+	2	0	RCCD1	89305268	1.000000	0.71417	0.993000	0.49108	0.797000	0.45037	7.960000	0.87893	2.167000	0.68274	0.454000	0.30748	GAG		0.507	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544		C	91504264	A	C	91504264	3	2	170	1	0	0	0	0	1	0	0	0	13181	304	11	5	981	5	RCCD1	15	91504264	Missense_Mutation	SNP	A	TCGA-B0-5075-01A-01D-1462-08	9903252	91504264	11027128	72	9851											
RHOT2	89941	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	720301	720301	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr16:720301A>G	ENST00000315082.4	+	7	496	c.382A>G	c.(382-384)Atg>Gtg	p.M128V	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	128	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.M128V(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GGGGAGCTCCATGGAGGCCGT	0.632																																																1	Substitution - Missense(1)	kidney(1)											76	80	79					16																	720301		2200	4300	6500	SO:0001583	missense	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.382A>G	16.37:g.720301A>G	ENSP00000321971:p.Met128Val		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.619954	0.28801	.	.	ENSG00000140983	ENST00000315082	T	0.67523	-0.27	4.98	2.64	0.31445	MIRO (1);	0.150498	0.64402	N	0.000001	T	0.55847	0.1946	L	0.35854	1.095	0.51012	D	0.999902	P;B	0.41345	0.746;0.228	B;B	0.43754	0.43;0.236	T	0.48779	-0.9005	10	0.44086	T	0.13	-23.4621	6.6003	0.22697	0.7614:0.1553:0.0833:0.0	.	1;128	Q8IXI1-2;Q8IXI1	.;MIRO2_HUMAN	V	128	ENSP00000321971:M128V	ENSP00000321971:M128V	M	+	1	0	RHOT2	660302	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	3.633000	0.54295	0.222000	0.20900	-0.464000	0.05259	ATG		0.632	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		G	720301	A	G	720301	3	3	170	1	0	0	0	0	1	0	0	0	13350	217	8	3	408	3	RHOT2	16	720301	Missense_Mutation	SNP	A	TCGA-B0-5075-01A-01D-1462-08		720301	89634452	73	9852											
ATXN2L	11273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28841977	28841977	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr16:28841977G>T	ENST00000336783.4	+	9	1243	c.1076G>T	c.(1075-1077)gGt>gTt	p.G359V	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G359V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G359V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G359V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G359V|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G359V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G359V	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	359					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.G359V(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTCCGGGAAGGTCCCCGGGGA	0.582																																																2	Substitution - Missense(2)	kidney(2)											43	43	43					16																	28841977		2197	4300	6497	SO:0001583	missense	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1076G>T	16.37:g.28841977G>T	ENSP00000338718:p.Gly359Val		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	16.07	3.017738	0.54576	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.45668	0.91;0.89;0.9;0.92;0.91	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	N	0.17474	0.49	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.76575	0.988;0.988;0.973;0.973;0.988;0.988;0.973;0.988	T	0.38373	-0.9664	10	0.22109	T	0.4	-9.3951	18.8117	0.92059	0.0:0.0:1.0:0.0	.	359;359;359;359;359;359;359;359	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	V	359	ENSP00000341459:G359V;ENSP00000378917:G359V;ENSP00000338718:G359V;ENSP00000372133:G359V;ENSP00000315650:G359V	ENSP00000315650:G359V	G	+	2	0	ATXN2L	28749478	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.889000	0.69766	2.750000	0.94351	0.563000	0.77884	GGT		0.582	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		T	28841977	G	T	28841977	3	4	170	1	0	0	0	0	1	0	0	0	1212	1261	44	4	1110	4	ATXN2L	16	28841977	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	28121676	28841977	61512776	74	9853											
DCTPP1	79077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30435760	30435760	+	Silent	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr16:30435760G>A	ENST00000319285.4	-	3	401	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	DCTPP1_ENST00000565758.1_5'UTR|DCTPP1_ENST00000567983.1_Intron|ZNF771_ENST00000566625.1_Intron|DCTPP1_ENST00000568434.1_5'UTR|DCTPP1_ENST00000568973.1_5'UTR	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	103					nucleoside triphosphate catabolic process (GO:0009143)|protein homotetramerization (GO:0051289)	cytosol (GO:0005829)	dCTP diphosphatase activity (GO:0047840)|magnesium ion binding (GO:0000287)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|pyrimidine deoxyribonucleotide binding (GO:0032556)	p.L103L(1)		kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						AATGCCACCAGGTAGATGAGG	0.622																																																1	Substitution - coding silent(1)	kidney(1)											61	55	57					16																	30435760		2197	4300	6497	SO:0001819	synonymous_variant	79077			BC001344	CCDS10680.1	16p11.2	2009-02-11			ENSG00000179958	ENSG00000179958	3.6.1.12		28777	protein-coding gene	gene with protein product	"XTP3-transactivated protein A"	615840				15740738	Standard	NM_024096		Approved	MGC5627, RS21C6, CDA03, XTP3TPA	uc002dyf.3	Q9H773	OTTHUMG00000132416	ENST00000319285.4:c.307C>T	16.37:g.30435760G>A				Silent	SNP	ENST00000319285.4	37	CCDS10680.1																																																																																				0.622	DCTPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255553.2	NM_024096		A	30435760	G	A	30435760	2	1	170	1	0	0	0	0	0	0	0	1	4314	991	35	2		2	DCTPP1	16	30435760	Silent	SNP	G	TCGA-B0-5075-01A-01D-1462-08	1593783	30435760	59918993	75	9854											
CYB5B	80777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69481136	69481138	+	Missense_Mutation	TNP	TGC	TGC	AAT	rs199873890		TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T|G|C	T|G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr16:69481136_69481138TGC>AAT	ENST00000512062.1	+	2	417_419	c.246_248TGC>AAT	c.(244-249)gaTGCc>gaAATc	p.82_83DA>EI	CYB5B_ENST00000561792.1_Missense_Mutation_p.82_83DA>EI|CYB5B_ENST00000515314.1_Missense_Mutation_p.82_83DA>EI|CYB5B_ENST00000307892.8_Missense_Mutation_p.86_87DA>EI			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	82	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)	p.D86E(1)|p.A87V(1)|p.A87T(1)		endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				ACTCTTCTGATGCCAGAGAAATG	0.443																																																3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	80777				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.246_248TGC>AAT	16.37:g.69481136TGC>AAT	ENSP00000423679:p.D82_A83delinsEI		A8K6B1|Q96CC3|Q9BT35	Missense_Mutation	SNP	ENST00000512062.1	37																																																																																					0.443	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256606.2	NM_030579		AAT	69481138	TGC	AAT	69481136	3	1	170	1	0	0	0	0	1	0	0	0	4125	1461	51	5	264	5	CYB5B	16	69481136	Missense_Mutation	TNP	TGC	TCGA-B0-5075-01A-01D-1462-08	39045376	69481136	20873617	76	9855											
ZC3H18	124245	broad.mit.edu;ucsc.edu	37	16	88696911	88696911	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr16:88696911C>T	ENST00000301011.5	+	17	2785	c.2585C>T	c.(2584-2586)tCa>tTa	p.S862L	ZC3H18_ENST00000452588.2_Missense_Mutation_p.S886L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	862						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S862L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GACCGGAAGTCAGGTGGGAGA	0.632																																					Ovarian(121;375 2276 20373 38669)											1	Substitution - Missense(1)	kidney(1)											53	49	50					16																	88696911		2197	4300	6497	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2585C>T	16.37:g.88696911C>T	ENSP00000301011:p.Ser862Leu		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.458495|4.458495	0.84317|0.84317	.|.	.|.	ENSG00000158545|ENSG00000158545	ENST00000289509|ENST00000301011;ENST00000452588	.|T;T	.|0.32272	.|1.46;1.47	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.369277	.|0.30492	.|N	.|0.009507	.|T	.|0.38268	.|0.1034	L|L	0.36672|0.36672	1.1|1.1	0.31694|0.31694	N|N	0.641501|0.641501	.|P;P	.|0.52692	.|0.955;0.955	.|P;P	.|0.53401	.|0.725;0.725	.|T	.|0.40961	.|-0.9535	.|10	0.87932|0.51188	D|T	0|0.08	-14.9406|-14.9406	15.8382|15.8382	0.78814|0.78814	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|886;862	.|E7ERS3;Q86VM9	.|.;ZCH18_HUMAN	X|L	688|862;886	.|ENSP00000301011:S862L;ENSP00000416951:S886L	ENSP00000289509:Q688X|ENSP00000301011:S862L	Q|S	+|+	1|2	0|0	ZC3H18|ZC3H18	87224412|87224412	0.998000|0.998000	0.40836|0.40836	0.965000|0.965000	0.40720|0.40720	0.966000|0.966000	0.64601|0.64601	3.238000|3.238000	0.51352|0.51352	2.517000|2.517000	0.84864|0.84864	0.462000|0.462000	0.41574|0.41574	CAG|TCA		0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		T	88696911	C	T	88696911	3	4	170	1	0	0	0	0	1	0	0	0	17573	838	29	2	2647	2	ZC3H18	16	88696911	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	19215775	88696911	1657842	77	9856											
EFCAB5	374786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	28384816	28384816	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr17:28384816G>C	ENST00000394835.3	+	13	2680	c.2488G>C	c.(2488-2490)Gac>Cac	p.D830H	RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000536908.2_Missense_Mutation_p.D774H|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000541045.1_Missense_Mutation_p.D487H|EFCAB5_ENST00000378738.3_Missense_Mutation_p.D830H|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000394832.2_Missense_Mutation_p.D830H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	830							calcium ion binding (GO:0005509)	p.D830H(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGTTGGTGAAGACGCTCCCTT	0.443																																																1	Substitution - Missense(1)	kidney(1)											123	115	117					17																	28384816		1861	4098	5959	SO:0001583	missense	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2488G>C	17.37:g.28384816G>C	ENSP00000378312:p.Asp830His		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987768	0.53934	.	.	ENSG00000176927	ENST00000536908;ENST00000541045;ENST00000394835;ENST00000394832;ENST00000378738;ENST00000423598	T;T;T;T;T	0.52754	1.66;0.65;2.8;2.06;1.73	5.51	5.51	0.81932	.	.	.	.	.	T	0.64972	0.2647	L	0.55103	1.725	0.33111	D	0.540466	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73380	0.956;0.98;0.98;0.98	T	0.70887	-0.4750	9	0.52906	T	0.07	-21.3082	17.2709	0.87102	0.0:0.0:1.0:0.0	.	774;774;830;830	B4DS75;F5GYL2;B5MEA3;A4FU69	.;.;.;EFCB5_HUMAN	H	774;487;830;830;830;774	ENSP00000440619:D774H;ENSP00000445575:D487H;ENSP00000378312:D830H;ENSP00000378309:D830H;ENSP00000368012:D830H	ENSP00000368012:D830H	D	+	1	0	EFCAB5	25408942	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	6.105000	0.71505	2.736000	0.93811	0.655000	0.94253	GAC		0.443	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		C	28384816	G	C	28384816	3	2	170	1	0	0	0	0	1	0	0	0	4940	942	33	4	2538	4	EFCAB5	17	28384816	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08		28384816	52810394	78	9857											
VAT1	3430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41168133	41168133	+	IGR	SNP	T	T	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr17:41168133T>G	ENST00000415816.2	+	0	1241				VAT1_ENST00000587173.1_Missense_Mutation_p.E308A|VAT1_ENST00000420567.3_Missense_Mutation_p.E242A|VAT1_ENST00000355653.3_Missense_Mutation_p.E376A	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.E376A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		ATTCTTCTTCTCCTGCATCTG	0.557																																																1	Substitution - Missense(1)	kidney(1)											341	315	324					17																	41168133		2203	4300	6503	SO:0001628	intergenic_variant	10493			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168133T>G			C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37		.	.	.	.	.	.	.	.	.	.	T	16.54	3.152071	0.57259	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.10960	3.55;2.82	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	L	0.41356	1.27	0.80722	D	1	D;B	0.54772	0.968;0.125	P;B	0.45343	0.477;0.082	T	0.01212	-1.1417	10	0.59425	D	0.04	-27.1017	15.1481	0.72674	0.0:0.0:0.0:1.0	.	308;376	B4DPX4;Q99536	.;VAT1_HUMAN	A	376;283;242	ENSP00000347872:E376A;ENSP00000408553:E242A	ENSP00000347872:E376A	E	-	2	0	VAT1	38421659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.432000	0.59922	1.998000	0.58463	0.459000	0.35465	GAG		0.557	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		G	41168133	T	G	41168133	1	3	170	0	1	0	0	0	0	0	0	0	17134	1551	54	5		5	VAT1	17	41168133	IGR	SNP	T	TCGA-B0-5075-01A-01D-1462-08	12783317	41168133	40027077	79	9858											
AXIN2	8313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	63532473	63532473	+	Silent	SNP	G	G	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr17:63532473G>T	ENST00000375702.5	-	6	2019	c.1911C>A	c.(1909-1911)cgC>cgA	p.R637R	AXIN2_ENST00000307078.5_Silent_p.R702R			Q9Y2T1	AXIN2_HUMAN	axin 2	702					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.R702R(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CAGCTAGCCTGCGACAGGCCT	0.652									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																							1	Substitution - coding silent(1)	kidney(1)											20	20	20					17																	63532473		2203	4299	6502	SO:0001819	synonymous_variant	8313	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1911C>A	17.37:g.63532473G>T			Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37																																																																																					0.652	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		T	63532473	G	T	63532473	2	4	170	1	0	0	0	0	0	0	0	1	1237	1306	46	4		4	AXIN2	17	63532473	Silent	SNP	G	TCGA-B0-5075-01A-01D-1462-08	22364340	63532473	17662737	80	9859											
ABCA8	10351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	66878106	66878106	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr17:66878106C>A	ENST00000269080.2	-	29	3861	c.3724G>T	c.(3724-3726)Gcc>Tcc	p.A1242S	ABCA8_ENST00000586539.1_Missense_Mutation_p.A1282S|ABCA8_ENST00000430352.2_Missense_Mutation_p.A1282S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1242					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A1242S(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGACAGCTGGCAATGATGACT	0.413																																																1	Substitution - Missense(1)	kidney(1)											130	122	125					17																	66878106		2203	4300	6503	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3724G>T	17.37:g.66878106C>A	ENSP00000269080:p.Ala1242Ser		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619502	0.87460	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.86097	-2.05;-2.07	4.75	4.75	0.60458	.	0.000000	0.52532	D	0.000066	D	0.93549	0.7941	M	0.90019	3.08	0.40766	D	0.983042	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.991;0.986;0.991	D	0.94550	0.7753	10	0.56958	D	0.05	.	17.2614	0.87071	0.0:1.0:0.0:0.0	.	1282;1282;1242	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	S	1242;1282	ENSP00000269080:A1242S;ENSP00000402814:A1282S	ENSP00000269080:A1242S	A	-	1	0	ABCA8	64389701	0.980000	0.34600	0.969000	0.41365	0.961000	0.63080	2.538000	0.45710	2.623000	0.88846	0.563000	0.77884	GCC		0.413	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		A	66878106	C	A	66878106	3	1	170	1	0	0	0	0	1	0	0	0	38	710	25	4	1061	4	ABCA8	17	66878106	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	3345633	66878106	14317104	81	9860											
TTC39C	125488	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	21694593	21694593	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr18:21694593G>A	ENST00000317571.3	+	7	1296	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I	RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000540918.2_Missense_Mutation_p.V47I|TTC39C_ENST00000304621.6_Missense_Mutation_p.V293I	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	354								p.V293I(1)|p.V354I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AATTCAACATGTCTGTCTGTA	0.378																																																2	Substitution - Missense(2)	kidney(2)											177	155	162					18																	21694593		2203	4300	6503	SO:0001583	missense	125488			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1060G>A	18.37:g.21694593G>A	ENSP00000323645:p.Val354Ile		B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076347	0.55753	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.42131	0.98;0.98;0.98	5.17	5.17	0.71159	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	L	0.45137	1.4	0.80722	D	1	B	0.31383	0.321	B	0.18871	0.023	T	0.10474	-1.0628	10	0.19590	T	0.45	-26.941	17.7852	0.88535	0.0:0.0:1.0:0.0	.	354	Q8N584	TT39C_HUMAN	I	293;354;47	ENSP00000306598:V293I;ENSP00000323645:V354I;ENSP00000443016:V47I	ENSP00000306598:V293I	V	+	1	0	TTC39C	19948591	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	7.246000	0.78247	2.581000	0.87130	0.655000	0.94253	GTC		0.378	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		A	21694593	G	A	21694593	3	1	170	1	0	0	0	0	1	0	0	0	16714	1377	48	2	1086	2	TTC39C	18	21694593	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08		21694593	56382655	82	9861											
CDH2	1000	broad.mit.edu;ucsc.edu	37	18	25591824	25591824	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr18:25591824G>A	ENST00000269141.3	-	4	955	c.532C>T	c.(532-534)Caa>Taa	p.Q178*	CDH2_ENST00000399380.3_Nonsense_Mutation_p.Q147*	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	178	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.Q178*(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACAAGCTCTTGAGGAAAAGGT	0.398																																																1	Substitution - Nonsense(1)	kidney(1)											148	141	144					18																	25591824		2203	4300	6503	SO:0001587	stop_gained	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.532C>T	18.37:g.25591824G>A	ENSP00000269141:p.Gln178*		A8MWK3|B0YIY6|Q14923|Q8N173	Nonsense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767298	0.90020	.	.	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492;ENST00000430882	.	.	.	5.93	5.93	0.95920	.	0.053328	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	X	178;147;127;93	.	ENSP00000269141:Q178X	Q	-	1	0	CDH2	23845822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.509000	0.81698	2.826000	0.97356	0.655000	0.94253	CAA		0.398	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		A	25591824	G	A	25591824	4	1	170	1	0	0	0	0	0	1	0	0	3107	1299	45	2	2240	2	CDH2	18	25591824	Nonsense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08	3897231	25591824	52485424	83	9862											
ABCA7	10347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1043790	1043790	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr19:1043790C>G	ENST00000263094.6	+	10	1228	c.997C>G	c.(997-999)Ccc>Gcc	p.P333A	ABCA7_ENST00000433129.1_Missense_Mutation_p.P333A|ABCA7_ENST00000435683.2_Missense_Mutation_p.P195A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	333					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.P333A(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGCTGGGACCCCGGATCTT	0.632																																																1	Substitution - Missense(1)	kidney(1)											172	170	170					19																	1043790		2203	4300	6503	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.997C>G	19.37:g.1043790C>G	ENSP00000263094:p.Pro333Ala		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576673	0.28092	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86230	-2.09;-2.09	4.33	3.28	0.37604	.	.	.	.	.	D	0.92064	0.7485	M	0.79693	2.465	0.32201	N	0.577854	D;P	0.67145	0.996;0.894	D;P	0.65233	0.933;0.682	D	0.91455	0.5184	9	0.40728	T	0.16	.	12.001	0.53230	0.0:0.8235:0.1765:0.0	.	195;333	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	A	333	ENSP00000263094:P333A;ENSP00000414062:P333A	ENSP00000263094:P333A	P	+	1	0	ABCA7	994790	0.995000	0.38212	0.569000	0.28460	0.324000	0.28378	3.510000	0.53393	0.793000	0.33875	0.455000	0.32223	CCC		0.632	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		G	1043790	C	G	1043790	3	3	170	1	0	0	0	0	1	0	0	0	37	507	18	4	1031	4	ABCA7	19	1043790	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08		1043790	58085193	84	9863											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9067241	9067242	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr19:9067241_9067242GA>TG	ENST00000397910.4	-	3	20407_20408	c.20204_20205TC>CA	c.(20203-20205)aTC>aCA	p.I6735T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6737	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.I6735T(4)|p.I6735I(4)|p.I2368I(2)|p.I2368T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCGAGTGATGATGGTCATATT	0.515																																																12	Substitution - Missense(6)|Substitution - coding silent(6)	kidney(9)|lung(3)																																								SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20204_20205delinsTG	19.37:g.9067241_9067242delinsTG	ENSP00000381008:p.Ile6735Thr		Q6ZQW5|Q96RK2	Silent|Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.515	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		TG	9067242	GA	TG	9067241	3	4	170	1	0	0	0	0	1	0	0	0	9975	1280	45	4	23646	4	MUC16	19	9067241	Missense_Mutation	DNP	GA	TCGA-B0-5075-01A-01D-1462-08	8023451	9067241	50061742	85	9864											
PDE4A	5141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10568586	10568586	+	Silent	SNP	C	C	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr19:10568586C>T	ENST00000352831.6	+	8	1019	c.909C>T	c.(907-909)ccC>ccT	p.P303P	PDE4A_ENST00000380702.2_Silent_p.P281P|PDE4A_ENST00000293683.5_Silent_p.P277P|PDE4A_ENST00000344979.3_Silent_p.P64P|PDE4A_ENST00000592685.1_Silent_p.P281P|PDE4A_ENST00000440014.2_Silent_p.P242P	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	303					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)	p.P242P(1)|p.P64P(1)|p.P277P(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TCCCATCACCCACGATGAAGG	0.557																																																3	Substitution - coding silent(3)	kidney(3)											72	80	77					19																	10568586		2203	4300	6503	SO:0001819	synonymous_variant	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.909C>T	19.37:g.10568586C>T			O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	CCDS45961.1																																																																																				0.557	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			T	10568586	C	T	10568586	2	4	170	1	0	0	0	0	0	0	0	1	11641	581	21	2		2	PDE4A	19	10568586	Silent	SNP	C	TCGA-B0-5075-01A-01D-1462-08	1501345	10568586	48560397	86	9865											
TNPO2	30000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12825697	12825697	+	Silent	SNP	C	C	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr19:12825697C>T	ENST00000592287.1	-	9	936	c.828G>A	c.(826-828)gaG>gaA	p.E276E	TNPO2_ENST00000588216.1_Silent_p.E276E|TNPO2_ENST00000356861.5_Silent_p.E276E|TNPO2_ENST00000450764.2_Silent_p.E276E|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000425528.1_Silent_p.E276E|TNPO2_ENST00000441499.1_Silent_p.E276E	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	276					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.E276E(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCAGCCAGAACTCACAGGCCT	0.627																																																2	Substitution - coding silent(2)	kidney(2)											122	132	129					19																	12825697		2141	4234	6375	SO:0001819	synonymous_variant	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.828G>A	19.37:g.12825697C>T			O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	CCDS45991.1																																																																																				0.627	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		T	12825697	C	T	12825697	2	4	170	1	0	0	0	0	0	0	0	1	16341	564	20	2		2	TNPO2	19	12825697	Silent	SNP	C	TCGA-B0-5075-01A-01D-1462-08	2257111	12825697	46303286	87	9866											
NR2C2AP	126382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19313200	19313200	+	Silent	SNP	C	C	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr19:19313200C>T	ENST00000331552.7	-	4	606	c.243G>A	c.(241-243)caG>caA	p.Q81Q	NR2C2AP_ENST00000538165.2_Silent_p.Q81Q|NR2C2AP_ENST00000544883.1_Missense_Mutation_p.R46K|NR2C2AP_ENST00000420605.3_Silent_p.Q81Q	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	81					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)		p.Q81Q(1)		breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			CCTGAGTGCCCTGTGAACCTT	0.582																																																1	Substitution - coding silent(1)	kidney(1)											160	162	161					19																	19313200		2203	4300	6503	SO:0001819	synonymous_variant	126382			AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"TR4 orphan receptor associated protein TRA16"	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.243G>A	19.37:g.19313200C>T			A6NGP7|B4DW92	Silent	SNP	ENST00000331552.7	37	CCDS32967.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761827	0.31228	.	.	ENSG00000184162	ENST00000544883	.	.	.	5.16	0.58	0.17402	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35425	-0.9789	5	0.02654	T	1	-16.0535	4.1088	0.10049	0.1612:0.5771:0.0:0.2617	.	.	.	.	K	46	.	ENSP00000438092:R46K	R	-	2	0	NR2C2AP	19174200	0.000000	0.05858	0.004000	0.12327	0.069000	0.16628	-0.032000	0.12266	0.062000	0.16340	0.462000	0.41574	AGG		0.582	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402936.4	NM_176880		T	19313200	C	T	19313200	2	4	170	1	0	0	0	0	0	0	0	1	10626	680	24	2		2	NR2C2AP	19	19313200	Silent	SNP	C	TCGA-B0-5075-01A-01D-1462-08	6487503	19313200	39815783	88	9867											
GRAMD1A	57655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35501023	35501023	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr19:35501023T>G	ENST00000317991.5	+	5	545	c.353T>G	c.(352-354)aTc>aGc	p.I118S	GRAMD1A_ENST00000504615.2_De_novo_Start_OutOfFrame|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.I111S|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.I205S|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.I118S	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	118	GRAM.					integral component of membrane (GO:0016021)		p.I118S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CAGCGTGAGATCCTGCTCCAG	0.657																																																1	Substitution - Missense(1)	kidney(1)											87	93	91					19																	35501023		1952	4132	6084	SO:0001583	missense	57655			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.353T>G	19.37:g.35501023T>G	ENSP00000441032:p.Ile118Ser		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631028	0.87660	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	D;D	0.88046	-2.33;-2.33	5.38	5.38	0.77491	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.95236	0.8455	H	0.95328	3.655	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	D;D;D;D	0.91635	0.988;0.998;0.999;0.991	D	0.96305	0.9224	10	0.87932	D	0	.	13.3999	0.60876	0.0:0.0:0.0:1.0	.	118;118;111;205	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	S	205;118;111	ENSP00000441032:I118S;ENSP00000439267:I111S	ENSP00000441032:I118S	I	+	2	0	GRAMD1A	40192863	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.716000	0.84723	2.254000	0.74563	0.533000	0.62120	ATC		0.657	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		G	35501023	T	G	35501023	3	3	170	1	0	0	0	0	1	0	0	0	6749	1435	50	5	371	5	GRAMD1A	19	35501023	Missense_Mutation	SNP	T	TCGA-B0-5075-01A-01D-1462-08	16187823	35501023	23627960	89	9868											
FCGBP	8857	broad.mit.edu	37	19	40376319	40376319	+	Silent	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr19:40376319G>A	ENST00000221347.6	-	25	11992	c.11985C>T	c.(11983-11985)taC>taT	p.Y3995Y	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3995	Cys-rich.					extracellular vesicular exosome (GO:0070062)		p.Y3995Y(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTACCTCATAGTAGACACCAT	0.547																																																1	Substitution - coding silent(1)	kidney(1)											61	56	57					19																	40376319		2199	4300	6499	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11985C>T	19.37:g.40376319G>A			O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40376319	G	A	40376319	2	1	170	1	0	0	0	0	0	0	0	1	5780	1024	36	2		2	FCGBP	19	40376319	Silent	SNP	G	TCGA-B0-5075-01A-01D-1462-08	4875296	40376319	18752664	90	9869											
CEACAM5	1048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42221409	42221409	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr19:42221409T>G	ENST00000221992.6	+	5	1108	c.994T>G	c.(994-996)Tcc>Gcc	p.S332A	CEACAM5_ENST00000398599.4_Missense_Mutation_p.S331A|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S332A	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	332	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.S332A(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAGCAACAACTCCAACCCCGT	0.522																																																1	Substitution - Missense(1)	kidney(1)											145	147	146					19																	42221409		2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.994T>G	19.37:g.42221409T>G	ENSP00000221992:p.Ser332Ala		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.22|11.22	1.573716|1.573716	0.28092|0.28092	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816	.|T;T	.|0.50001	.|0.76;0.76	2.77|2.77	-1.41|-1.41	0.08941|0.08941	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.62684|0.62684	0.2448|0.2448	M|M	0.85542|0.85542	2.76|2.76	0.09310|0.09310	N|N	1|1	.|D;B	.|0.69078	.|0.997;0.103	.|D;B	.|0.77557	.|0.99;0.153	T|T	0.51568|0.51568	-0.8689|-0.8689	5|9	.|0.45353	.|T	.|0.12	.|.	2.468|2.468	0.04557|0.04557	0.2135:0.2896:0.0:0.4968|0.2135:0.2896:0.0:0.4968	.|.	.|332;332	.|P06731;Q53G30	.|CEAM5_HUMAN;.	R|A	327|332	.|ENSP00000221992:S332A;ENSP00000385072:S332A	.|ENSP00000221992:S332A	L|S	+|+	2|1	0|0	CEACAM5|CEACAM5	46913249|46913249	0.001000|0.001000	0.12720|0.12720	0.021000|0.021000	0.16686|0.16686	0.189000|0.189000	0.23516|0.23516	0.023000|0.023000	0.13533|0.13533	-0.545000|-0.545000	0.06224|0.06224	0.392000|0.392000	0.25879|0.25879	CTC|TCC		0.522	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		G	42221409	T	G	42221409	3	3	170	1	0	0	0	0	1	0	0	0	3197	1551	54	5	1012	5	CEACAM5	19	42221409	Missense_Mutation	SNP	T	TCGA-B0-5075-01A-01D-1462-08	1845090	42221409	16907574	91	9870											
PLEKHA4	57664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49362923	49362923	+	Silent	SNP	A	A	C			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr19:49362923A>C	ENST00000263265.6	-	7	1050	c.495T>G	c.(493-495)ccT>ccG	p.P165P	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Silent_p.P165P	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	165	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)	p.P165P(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGGTCGTGCAGGTGACCTGG	0.607																																																1	Substitution - coding silent(1)	kidney(1)											20	20	20					19																	49362923		2199	4295	6494	SO:0001819	synonymous_variant	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.495T>G	19.37:g.49362923A>C			Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	CCDS12737.1																																																																																				0.607	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			C	49362923	A	C	49362923	2	2	170	1	0	0	0	0	0	0	0	1	12060	175	7	5		5	PLEKHA4	19	49362923	Silent	SNP	A	TCGA-B0-5075-01A-01D-1462-08	7141514	49362923	9766060	92	9871											
PIGU	128869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33245016	33245016	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr20:33245016C>A	ENST00000374820.2	-	2	183	c.163G>T	c.(163-165)Gta>Tta	p.V55L	PIGU_ENST00000452740.2_Missense_Mutation_p.V55L			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	55					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V55L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						TACGGAGATACTCCCAAGTCC	0.403																																																1	Substitution - Missense(1)	kidney(1)											111	98	102					20																	33245016		2203	4300	6503	SO:0001583	missense	128869			AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"Phosphatidylinositol glycan anchor biosynthesis"	15791	protein-coding gene	gene with protein product	"GPI transamidase subunit"	608528	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.163G>T	20.37:g.33245016C>A	ENSP00000363953:p.Val55Leu		Q7Z489|Q8N2F2	Missense_Mutation	SNP	ENST00000374820.2	37		.	.	.	.	.	.	.	.	.	.	C	16.17	3.046309	0.55110	.	.	ENSG00000101464	ENST00000217446;ENST00000374820;ENST00000452740	.	.	.	5.39	4.45	0.53987	.	0.123733	0.53938	D	0.000054	T	0.52403	0.1732	N	0.25957	0.775	0.51767	D	0.99993	D;B;B	0.63046	0.992;0.134;0.163	D;B;B	0.77004	0.989;0.103;0.165	T	0.50775	-0.8788	9	0.05620	T	0.96	.	11.0808	0.48059	0.0:0.9131:0.0:0.0869	.	55;55;55	E7EVL4;Q9H490-2;Q9H490	.;.;PIGU_HUMAN	L	55	.	ENSP00000217446:V55L	V	-	1	0	PIGU	32708677	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.326000	0.52037	1.272000	0.44329	0.585000	0.79938	GTA		0.403	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476		A	33245016	C	A	33245016	3	1	170	1	0	0	0	0	1	0	0	0	11902	565	20	4	1188	4	PIGU	20	33245016	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08		33245016	29780504	93	9872											
ZNF831	128611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	57766296	57766296	+	Silent	SNP	C	C	T			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr20:57766296C>T	ENST00000371030.2	+	1	222	c.222C>T	c.(220-222)cgC>cgT	p.R74R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	74	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R74R(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCAGCCCCGCGCCCCGCTAG	0.701																																																2	Substitution - coding silent(2)	kidney(1)|endometrium(1)											8	9	9					20																	57766296		1826	4018	5844	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.222C>T	20.37:g.57766296C>T			Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.701	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		T	57766296	C	T	57766296	2	4	170	1	0	0	0	0	0	0	0	1	18190	755	27	1		1	ZNF831	20	57766296	Silent	SNP	C	TCGA-B0-5075-01A-01D-1462-08	24521280	57766296	5259224	94	9873											
ADM2	79924	broad.mit.edu	37	22	50921276	50921276	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chr22:50921276G>A	ENST00000395738.2	+	2	683	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	ADM2_ENST00000362068.2_Silent_p.R47R|ADM2_ENST00000395737.1_Missense_Mutation_p.A131T	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	131					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.A131T(1)		breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGGGACCGGCCGGCCGGCA	0.706																																																1	Substitution - Missense(1)	kidney(1)											8	10	10					22																	50921276		2019	4061	6080	SO:0001583	missense	79924			AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"Endogenous ligands"	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.391G>A	22.37:g.50921276G>A	ENSP00000379087:p.Ala131Thr		Q3LFQ0	Missense_Mutation	SNP	ENST00000395738.2	37	CCDS33682.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332246	0.41297	.	.	ENSG00000128165	ENST00000395738;ENST00000395737	T;T	0.21932	1.98;1.98	4.62	0.716	0.18191	.	.	.	.	.	T	0.14356	0.0347	N	0.25647	0.755	0.09310	N	1	B	0.21520	0.057	B	0.28784	0.094	T	0.32079	-0.9920	9	0.62326	D	0.03	.	5.2203	0.15366	0.1992:0.0:0.5703:0.2306	.	131	Q7Z4H4	ADM2_HUMAN	T	131	ENSP00000379087:A131T;ENSP00000379086:A131T	ENSP00000379086:A131T	A	+	1	0	ADM2	49268142	0.050000	0.20438	0.001000	0.08648	0.095000	0.18619	1.644000	0.37228	0.359000	0.24239	0.448000	0.29417	GCC		0.706	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866		A	50921276	G	A	50921276	3	1	170	1	0	0	0	0	1	0	0	0	322	1203	42	2	397	2	ADM2	22	50921276	Missense_Mutation	SNP	G	TCGA-B0-5075-01A-01D-1462-08		50921276	383290	95	9874											
ARL13A	392509	hgsc.bcm.edu	37	X	100240888	100240889	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chrX:100240888_100240889insG	ENST00000450049.2	+	4	476_477	c.363_364insG	c.(364-366)gggfs	p.G122fs		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	122					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						AAAGAGTGGCAGGGAAACCCAT	0.446																																																0																																										SO:0001589	frameshift_variant	392509				CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	31709	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 13"	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.366dupG	X.37:g.100240891_100240891dupG	ENSP00000398637:p.Gly122fs		B2RTT6|B4DX50	Frame_Shift_Ins	INS	ENST00000450049.2	37	CCDS55463.1																																																																																				0.446	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		G	100240889	-	G	100240888	7	5	170	1	0	1	1	0	0	0	0	0	928	175	7	0	373	0	ARL13A	23	100240888	Frame_Shift_Ins	INS	-	TCGA-B0-5075-01A-01D-1462-08		100240888	55029672	96	9875											
CAPN6	827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	110491970	110491970	+	Silent	SNP	G	G	A			TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chrX:110491970G>A	ENST00000324068.1	-	10	1478	c.1311C>T	c.(1309-1311)caC>caT	p.H437H	CAPN6_ENST00000541758.1_Silent_p.H182H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	437	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.H437H(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGTAGAGGTGGTGGAGGCGGA	0.448																																																1	Substitution - coding silent(1)	kidney(1)											105	93	97					X																	110491970		2203	4300	6503	SO:0001819	synonymous_variant	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1311C>T	X.37:g.110491970G>A			D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	CCDS14555.1																																																																																				0.448	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			A	110491970	G	A	110491970	2	1	170	1	0	0	0	0	0	0	0	1	2632	1252	44	2		2	CAPN6	23	110491970	Silent	SNP	G	TCGA-B0-5075-01A-01D-1462-08	10251082	110491970	44778590	97	9876											
HPRT1	3251	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	133609298	133609298	+	Missense_Mutation	SNP	C	C	A	rs137852481		TCGA-B0-5075-01A-01D-1462-08	TCGA-B0-5075-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93237b8e-c9a1-45dd-b160-cfe97e648598	efae71ac-e747-402b-bb95-346f534076cd	g.chrX:133609298C>A	ENST00000298556.7	+	3	381	c.222C>A	c.(220-222)ttC>ttA	p.F74L	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	74			F -> L (in LNS; Flint/RJK 892/DW/Perth/ 1522, Japan). {ECO:0000269|PubMed:20544509, ECO:0000269|PubMed:2071157, ECO:0000269|PubMed:2347587, ECO:0000269|PubMed:3384338}.		adenine salvage (GO:0006168)|central nervous system neuron development (GO:0021954)|cerebral cortex neuron differentiation (GO:0021895)|cytolysis (GO:0019835)|dendrite morphogenesis (GO:0048813)|dopamine metabolic process (GO:0042417)|GMP catabolic process (GO:0046038)|GMP salvage (GO:0032263)|grooming behavior (GO:0007625)|guanine salvage (GO:0006178)|hypoxanthine metabolic process (GO:0046100)|hypoxanthine salvage (GO:0043103)|IMP metabolic process (GO:0046040)|IMP salvage (GO:0032264)|locomotory behavior (GO:0007626)|lymphocyte proliferation (GO:0046651)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of dopamine metabolic process (GO:0045964)|protein homotetramerization (GO:0051289)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside salvage (GO:0006166)|purine-containing compound salvage (GO:0043101)|response to amphetamine (GO:0001975)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanine phosphoribosyltransferase activity (GO:0052657)|hypoxanthine phosphoribosyltransferase activity (GO:0004422)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)	p.F74L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Azathioprine(DB00993)|Mercaptopurine(DB01033)|Tioguanine(DB00352)	GCTATAAATTCTTTGCTGACC	0.423																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM890066|CM952438	HPRT1	M	rs137852481						84	76	79					X																	133609298		2203	4300	6503	SO:0001583	missense	3251			M26434	CCDS14641.1	Xq26.2	2012-10-02	2008-08-01		ENSG00000165704	ENSG00000165704	2.4.2.8		5157	protein-coding gene	gene with protein product	"Lesch-Nyhan syndrome"	308000		HPRT		12175903	Standard	NM_000194		Approved	HGPRT	uc004exl.4	P00492	OTTHUMG00000022452	ENST00000298556.7:c.222C>A	X.37:g.133609298C>A	ENSP00000298556:p.Phe74Leu		A6NHF0|B2R8M9	Missense_Mutation	SNP	ENST00000298556.7	37	CCDS14641.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481127	0.63849	.	.	ENSG00000165704	ENST00000298556;ENST00000370796	D	0.99226	-5.59	4.68	2.91	0.33838	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	M	0.86097	2.795	0.80722	A	1	D	0.76494	0.999	D	0.73708	0.981	D	0.99936	1.1358	9	0.87932	D	0	-14.9482	7.8961	0.29708	0.0:0.7007:0.0:0.2993	.	74	P00492	HPRT_HUMAN	L	74	ENSP00000298556:F74L	ENSP00000298556:F74L	F	+	3	2	HPRT1	133436964	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.301000	0.33447	0.364000	0.24374	-0.208000	0.12717	TTC		0.423	HPRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058361.1	NM_000194		A	133609298	C	A	133609298	3	1	170	1	0	0	0	0	1	0	0	0	7340	912	32	4	232	4	HPRT1	23	133609298	Missense_Mutation	SNP	C	TCGA-B0-5075-01A-01D-1462-08	23117328	133609298	21661262	98	9877											
CA14	23632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150235516	150235516	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr1:150235516A>G	ENST00000369111.4	+	7	1608	c.638A>G	c.(637-639)aAt>aGt	p.N213S	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	213					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.N213S(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TTCCGCTACAATGGCTCGCTC	0.517																																																1	Substitution - Missense(1)	kidney(1)											91	89	89					1																	150235516		2203	4300	6503	SO:0001583	missense	23632			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.638A>G	1.37:g.150235516A>G	ENSP00000358107:p.Asn213Ser		Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	CCDS947.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327532	0.81690	.	.	ENSG00000118298	ENST00000369111	T	0.65549	-0.16	5.65	5.65	0.86999	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.091832	0.64402	D	0.000001	T	0.46347	0.1388	L	0.31804	0.96	0.51233	D	0.999911	D	0.67145	0.996	P	0.53861	0.736	T	0.42515	-0.9447	10	0.11794	T	0.64	.	13.8738	0.63638	1.0:0.0:0.0:0.0	.	213	Q9ULX7	CAH14_HUMAN	S	213	ENSP00000358107:N213S	ENSP00000358107:N213S	N	+	2	0	CA14	148502140	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.466000	0.90387	2.371000	0.80710	0.533000	0.62120	AAT		0.517	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		G	150235516	A	G	150235516	3	3	171	1	0	0	0	0	1	0	0	0	2517	101	4	3	664	3	CA14	1	150235516	Missense_Mutation	SNP	A	TCGA-B0-5077-01A-01D-1462-08		150235516	99015105	1	9878											
MEX3A	92312	broad.mit.edu	37	1	156046832	156046832	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr1:156046832C>A	ENST00000532414.2	-	2	1095	c.1096G>T	c.(1096-1098)Ggc>Tgc	p.G366C	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	366						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G366C(1)|p.G485C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGGTACCCGCCGTAGCCAAAG	0.677																																																2	Substitution - Missense(2)	kidney(2)											30	37	35					1																	156046832		1973	4132	6105	SO:0001583	missense	92312			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1096G>T	1.37:g.156046832C>A	ENSP00000432845:p.Gly366Cys			Missense_Mutation	SNP	ENST00000532414.2	37	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655649	0.47467	.	.	ENSG00000254726	ENST00000532414	T	0.58652	0.32	5.14	0.465	0.16711	.	0.236650	0.34133	N	0.004232	T	0.44052	0.1275	N	0.22421	0.69	0.40366	D	0.979293	D	0.89917	1.0	D	0.65010	0.931	T	0.47849	-0.9085	10	0.59425	D	0.04	.	9.8665	0.41148	0.0:0.6877:0.0:0.3123	.	366	A1L020	MEX3A_HUMAN	C	366	ENSP00000432845:G366C	ENSP00000432845:G366C	G	-	1	0	MEX3A	154313456	0.848000	0.29623	0.984000	0.44739	0.994000	0.84299	0.104000	0.15313	-0.066000	0.12998	0.551000	0.68910	GGC		0.677	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		A	156046832	C	A	156046832	3	1	171	1	0	0	0	0	1	0	0	0	9511	652	23	4	470	4	MEX3A	1	156046832	Missense_Mutation	SNP	C	TCGA-B0-5077-01A-01D-1462-08	5811316	156046832	93203789	2	9879											
PIGM	93183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160001252	160001252	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr1:160001252A>T	ENST00000368090.2	-	1	531	c.278T>A	c.(277-279)cTc>cAc	p.L93H		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	93					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.L93H(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTTCCAAAGAGCTCGCTGAG	0.617																																																1	Substitution - Missense(1)	kidney(1)											54	48	50					1																	160001252		2203	4300	6503	SO:0001583	missense	93183			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	18858	protein-coding gene	gene with protein product	"GPI mannosyltransferase 1", "DPM:GlcN-(acyl-)PI mannosyltransferase", "dol-P-Man dependent GPI mannosyltransferase"	610273	"phosphatidylinositol glycan, class M"			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.278T>A	1.37:g.160001252A>T	ENSP00000357069:p.Leu93His			Missense_Mutation	SNP	ENST00000368090.2	37	CCDS1192.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.014691	0.75161	.	.	ENSG00000143315	ENST00000368090	T	0.47177	0.85	5.51	4.38	0.52667	.	0.220709	0.38217	N	0.001775	T	0.15998	0.0385	L	0.28694	0.88	0.53005	D	0.999963	B	0.34241	0.444	B	0.29598	0.104	T	0.04825	-1.0924	9	.	.	.	-6.2979	9.6894	0.40118	0.9187:0.0:0.0813:0.0	.	93	Q9H3S5	PIGM_HUMAN	H	93	ENSP00000357069:L93H	.	L	-	2	0	PIGM	158267876	0.993000	0.37304	0.458000	0.27068	0.994000	0.84299	2.945000	0.49043	1.103000	0.41568	0.459000	0.35465	CTC		0.617	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167		T	160001252	A	T	160001252	3	4	171	1	0	0	0	0	1	0	0	0	11894	304	11	5	997	5	PIGM	1	160001252	Missense_Mutation	SNP	A	TCGA-B0-5077-01A-01D-1462-08	3954420	160001252	89249369	3	9880											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179642494	179642494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr2:179642494delT	ENST00000591111.1	-	25	4641	c.4417delA	c.(4417-4419)actfs	p.T1473fs	TTN_ENST00000360870.5_Frame_Shift_Del_p.T1473fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.T1427fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.T1427fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.T1473fs|TTN_ENST00000589042.1_Frame_Shift_Del_p.T1473fs|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.T1427fs			Q8WZ42	TITIN_HUMAN	titin	12340	Ig-like 6.			QTA -> ANC (in Ref. 1; CAA62188). {ECO:0000305}.	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)			AATCTGGCAGTTTGCCCTTCT	0.393																																																0													88	85	86					2																	179642494		2203	4300	6503	SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4417delA	2.37:g.179642494delT	ENSP00000465570:p.Thr1473fs		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	ENST00000591111.1	37																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179642494	T	-	179642494	7	5	171	1	0	1	0	1	0	0	0	0	16740	1725	60	0	106923	0	TTN	2	179642494	Frame_Shift_Del	DEL	T	TCGA-B0-5077-01A-01D-1462-08		179642494	63556879	4	9881											
SSFA2	6744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	182774683	182774683	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr2:182774683A>G	ENST00000431877.2	+	9	1650	c.1471A>G	c.(1471-1473)Acg>Gcg	p.T491A	SSFA2_ENST00000409136.1_5'Flank|SSFA2_ENST00000428267.2_Missense_Mutation_p.T338A|SSFA2_ENST00000409001.1_Missense_Mutation_p.T491A|SSFA2_ENST00000320370.7_Missense_Mutation_p.T491A	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	491						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T491A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCTAGGTCTTACGAAGTCGAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											66	57	60					2																	182774683		2203	4300	6503	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1471A>G	2.37:g.182774683A>G	ENSP00000388731:p.Thr491Ala		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	A	4.869	0.161452	0.09287	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.14391	2.74;2.51;2.74;2.75	5.98	2.4	0.29515	.	0.563870	0.19375	N	0.115818	T	0.09291	0.0229	L	0.33485	1.01	0.20489	N	0.999893	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.32981	-0.9886	10	0.23891	T	0.37	0.0	7.441	0.27183	0.7415:0.0:0.2585:0.0	.	338;491;491;491	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	A	491;491;491;338	ENSP00000388731:T491A;ENSP00000314669:T491A;ENSP00000387319:T491A;ENSP00000409867:T338A	ENSP00000314669:T491A	T	+	1	0	SSFA2	182482928	0.009000	0.17119	0.032000	0.17829	0.269000	0.26545	1.379000	0.34340	0.518000	0.28383	0.482000	0.46254	ACG		0.383	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		G	182774683	A	G	182774683	3	3	171	1	0	0	0	0	1	0	0	0	15188	391	14	3	1505	3	SSFA2	2	182774683	Missense_Mutation	SNP	A	TCGA-B0-5077-01A-01D-1462-08	3132189	182774683	60424690	5	9882											
IRS1	3667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	227661146	227661146	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr2:227661146G>T	ENST00000305123.5	-	1	3329	c.2309C>A	c.(2308-2310)tCc>tAc	p.S770Y	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	770					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.S770Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGCTTAAAGGATCTTGGCAA	0.627																																																1	Substitution - Missense(1)	kidney(1)											129	149	142					2																	227661146		2203	4300	6503	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2309C>A	2.37:g.227661146G>T	ENSP00000304895:p.Ser770Tyr			Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619931	0.66787	.	.	ENSG00000169047	ENST00000305123	T	0.74737	-0.87	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	D	0.82788	0.5113	L	0.55213	1.73	0.44685	D	0.997677	D	0.71674	0.998	D	0.65573	0.936	T	0.83200	-0.0079	10	0.49607	T	0.09	-17.0733	18.1615	0.89709	0.0:0.0:1.0:0.0	.	770	P35568	IRS1_HUMAN	Y	770	ENSP00000304895:S770Y	ENSP00000304895:S770Y	S	-	2	0	IRS1	227369390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.287000	0.78681	2.526000	0.85167	0.561000	0.74099	TCC		0.627	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		T	227661146	G	T	227661146	3	4	171	1	0	0	0	0	1	0	0	0	7842	1174	41	4	1423	4	IRS1	2	227661146	Missense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08	44886463	227661146	15538227	6	9883											
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Missense_Mutation	SNP	C	C	G	rs5030826		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:10183725C>G	ENST00000256474.2	+	1	1034	c.194C>G	c.(193-195)tCg>tGg	p.S65W	VHL_ENST00000345392.2_Missense_Mutation_p.S65W|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7	11	9					3																	10183725		2133	4211	6344	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>G	3.37:g.10183725C>G	ENSP00000256474:p.Ser65Trp		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689929	0.68271	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99834	-7.04;-7.04	5.54	4.67	0.58626	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.055860	0.85682	D	0.000000	D	0.99775	0.9907	M	0.83774	2.66	0.49130	D	0.999759	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97143	0.9826	10	0.87932	D	0	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	.	65;65	P40337-2;P40337	.;VHL_HUMAN	W	65	ENSP00000256474:S65W;ENSP00000344757:S65W	ENSP00000256474:S65W	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183725	C	G	10183725	3	3	171	1	0	0	0	0	1	0	0	0	17167	893	31	4	196	4	VHL	3	10183725	Missense_Mutation	SNP	C	TCGA-B0-5077-01A-01D-1462-08		10183725	187838705	7	9884											
CELSR3	1951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48697119	48697119	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:48697119G>C	ENST00000164024.4	-	1	3229	c.2949C>G	c.(2947-2949)atC>atG	p.I983M	CELSR3_ENST00000544264.1_Missense_Mutation_p.I983M	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	983	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I983M(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTGGCTGAGATCTGCAGGA	0.532																																																1	Substitution - Missense(1)	kidney(1)											62	62	62					3																	48697119		2203	4300	6503	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2949C>G	3.37:g.48697119G>C	ENSP00000164024:p.Ile983Met		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528675	0.44969	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.52983	0.64;0.64	5.78	4.9	0.64082	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.64057	0.2564	M	0.63169	1.94	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.81914	0.992;0.995	T	0.67055	-0.5767	9	0.87932	D	0	.	11.6174	0.51098	0.1422:0.0:0.8578:0.0	.	983;1053	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	983	ENSP00000164024:I983M;ENSP00000445694:I983M	ENSP00000164024:I983M	I	-	3	3	CELSR3	48672123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.352000	0.52239	1.442000	0.47568	0.561000	0.74099	ATC		0.532	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		C	48697119	G	C	48697119	3	2	171	1	0	0	0	0	1	0	0	0	3225	932	33	4	7129	4	CELSR3	3	48697119	Missense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08	38513394	48697119	149325311	8	9885											
QRICH1	54870	hgsc.bcm.edu	37	3	49094428	49094437	+	Frame_Shift_Del	DEL	ACAGCCTGCA	ACAGCCTGCA	-	rs576649534		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	ACAGCCTGCA	ACAGCCTGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:49094428_49094437delACAGCCTGCA	ENST00000395443.2	-	3	1668_1677	c.1196_1205delTGCAGGCTGT	c.(1195-1206)gtgcaggctgtgfs	p.VQAV399fs	QRICH1_ENST00000424300.1_Frame_Shift_Del_p.VQAV399fs|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Frame_Shift_Del_p.VQAV399fs	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	399	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGTGCCTGCCACAGCCTGCACAGCCACTGG	0.529																																																0																																										SO:0001589	frameshift_variant	54870				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1196_1205delTGCAGGCTGT	3.37:g.49094428_49094437delACAGCCTGCA	ENSP00000378830:p.Val399fs		Q4G0F7|Q7L621|Q8TEA5	Frame_Shift_Del	DEL	ENST00000395443.2	37	CCDS2787.1																																																																																				0.529	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		-	49094437	ACAGCCTGCA	-	49094428	7	5	171	1	0	1	0	1	0	0	0	0	12885	159	6	0	1157	0	QRICH1	3	49094428	Frame_Shift_Del	DEL	ACAGCCTGCA	TCGA-B0-5077-01A-01D-1462-08	397309	49094428	148928002	9	9886											
HYAL2	8692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	50357640	50357640	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:50357640C>G	ENST00000447092.1	-	1	2573	c.281G>C	c.(280-282)aGg>aCg	p.R94T	HYAL2_ENST00000357750.4_Missense_Mutation_p.R94T|HYAL2_ENST00000442581.1_Missense_Mutation_p.R94T|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000395139.3_Missense_Mutation_p.R94T			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	94					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)	p.R94T(1)		breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATGCACAGACCTTCCGGCAGA	0.537																																																1	Substitution - Missense(1)	kidney(1)											80	70	74					3																	50357640		2203	4300	6503	SO:0001583	missense	8692			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.281G>C	3.37:g.50357640C>G	ENSP00000401853:p.Arg94Thr		B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	C	5.560	0.288224	0.10513	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581;ENST00000458018;ENST00000424190	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.93	-7.72	0.01250	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	1.088380	0.06813	N	0.790768	T	0.05090	0.0136	N	0.02721	-0.515	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33085	-0.9882	10	0.13853	T	0.58	-1.2735	0.8419	0.01152	0.3447:0.1481:0.1332:0.374	.	94;94	B3KRZ2;Q12891	.;HYAL2_HUMAN	T	94	ENSP00000401853:R94T;ENSP00000350387:R94T;ENSP00000378571:R94T;ENSP00000406657:R94T;ENSP00000399677:R94T;ENSP00000398714:R94T	ENSP00000350387:R94T	R	-	2	0	HYAL2	50332644	0.000000	0.05858	0.000000	0.03702	0.397000	0.30659	-1.751000	0.01821	-1.052000	0.03222	0.557000	0.71058	AGG		0.537	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		G	50357640	C	G	50357640	3	3	171	1	0	0	0	0	1	0	0	0	7466	681	24	4	1152	4	HYAL2	3	50357640	Missense_Mutation	SNP	C	TCGA-B0-5077-01A-01D-1462-08	1263212	50357640	147664790	10	9887											
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130287096	130287096	+	Silent	SNP	C	C	T	rs61730501	byFrequency	TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:130287096C>T	ENST00000358511.6	+	5	2080	c.2049C>T	c.(2047-2049)agC>agT	p.S683S	COL6A6_ENST00000453409.2_Silent_p.S683S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	683	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTCCCAAAGCGACATTTCAA	0.478													C|||	67	0.0133786	0.0477	0.0029	5008	,	,		20256	0.0		0.001	False		,,,				2504	0.001															0								C		128,3762		1,126,1818	153	152	152		2049	-11.5	0	3	dbSNP_129	152	1,8267		0,1,4133	no	coding-synonymous	COL6A6	NM_001102608.1		1,127,5951	TT,TC,CC		0.0121,3.2905,1.061		683/2264	130287096	129,12029	1945	4134	6079	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2049C>T	3.37:g.130287096C>T			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		T	130287096	C	T	130287096	2	4	171	1	0	0	0	0	0	0	0	1	3705	767	27	1		1	COL6A6	3	130287096	Silent	SNP	C	TCGA-B0-5077-01A-01D-1462-08	79929456	130287096	67735334	11	9888											
MRAS	22808	broad.mit.edu;ucsc.edu	37	3	138117372	138117372	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:138117372A>T	ENST00000289104.4	+	4	1056	c.409A>T	c.(409-411)Acc>Tcc	p.T137S	MRAS_ENST00000423968.2_Missense_Mutation_p.T137S|MRAS_ENST00000464896.1_Missense_Mutation_p.T61S|MRAS_ENST00000474559.1_Missense_Mutation_p.T137S	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	137					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.T137S(1)		kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GAGGAAGATCACCAGGGAGCA	0.507																																																1	Substitution - Missense(1)	kidney(1)											159	141	147					3																	138117372		2203	4300	6503	SO:0001583	missense	22808			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.409A>T	3.37:g.138117372A>T	ENSP00000289104:p.Thr137Ser		B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	A	5.262	0.233712	0.09969	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.092891	0.85682	D	0.000000	T	0.41003	0.1140	N	0.01729	-0.75	0.40199	D	0.977499	B	0.02656	0.0	B	0.01281	0.0	T	0.45862	-0.9232	10	0.02654	T	1	.	7.78	0.29060	0.8137:0.0:0.0:0.1863	.	137	O14807	RASM_HUMAN	S	137;137;61;61;137	ENSP00000289104:T137S;ENSP00000389682:T137S;ENSP00000417685:T61S;ENSP00000419582:T61S;ENSP00000418356:T137S	ENSP00000289104:T137S	T	+	1	0	MRAS	139600062	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.831000	0.69330	1.745000	0.51790	0.459000	0.35465	ACC		0.507	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			T	138117372	A	T	138117372	3	4	171	1	0	0	0	0	1	0	0	0	9757	159	6	5	419	5	MRAS	3	138117372	Missense_Mutation	SNP	A	TCGA-B0-5077-01A-01D-1462-08	7830276	138117372	59905058	12	9889											
ADAM29	11086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	175898804	175898804	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr4:175898804G>T	ENST00000359240.3	+	5	2798	c.2128G>T	c.(2128-2130)Gtt>Ttt	p.V710F	ADAM29_ENST00000445694.1_Missense_Mutation_p.V710F|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.V710F|ADAM29_ENST00000514159.1_Missense_Mutation_p.V710F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	710					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V710F(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GCAGCAAGATGTTCAAACTCC	0.368																																					Ovarian(140;1727 1835 21805 25838 41440)											1	Substitution - Missense(1)	kidney(1)											55	57	57					4																	175898804		2203	4300	6503	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2128G>T	4.37:g.175898804G>T	ENSP00000352177:p.Val710Phe		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	8.715	0.913002	0.17907	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	2.31	2.31	0.28768	.	.	.	.	.	T	0.03871	0.0109	N	0.19112	0.55	0.09310	N	1	D	0.63046	0.992	P	0.60789	0.879	T	0.52034	-0.8629	8	.	.	.	.	8.2006	0.31421	0.0:0.0:1.0:0.0	.	710	Q9UKF5	ADA29_HUMAN	F	710	ENSP00000352177:V710F;ENSP00000414544:V710F;ENSP00000384229:V710F;ENSP00000423517:V710F	.	V	+	1	0	ADAM29	176135379	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.100000	0.15231	1.632000	0.50472	0.551000	0.68910	GTT		0.368	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				T	175898804	G	T	175898804	3	4	171	1	0	0	0	0	1	0	0	0	247	1377	48	4	2130	4	ADAM29	4	175898804	Missense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08		175898804	15255472	13	9890											
ADAMTS19	171019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	129015555	129015555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr5:129015555C>T	ENST00000274487.4	+	17	2732	c.2587C>T	c.(2587-2589)Cga>Tga	p.R863*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	863	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R863*(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTATGTAAGACGAGGCCTCTG	0.438																																																1	Substitution - Nonsense(1)	kidney(1)											101	99	100					5																	129015555		2203	4300	6503	SO:0001587	stop_gained	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2587C>T	5.37:g.129015555C>T	ENSP00000274487:p.Arg863*			Nonsense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	41	8.577380	0.98870	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.54	3.65	0.41850	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2787	0.49181	0.5039:0.4961:0.0:0.0	.	.	.	.	X	863	.	.	R	+	1	2	ADAMTS19	129043454	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.455000	0.44988	1.457000	0.47850	0.650000	0.86243	CGA		0.438	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		T	129015555	C	T	129015555	4	4	171	1	0	0	0	0	0	1	0	0	264	528	19	1	2653	1	ADAMTS19	5	129015555	Nonsense_Mutation	SNP	C	TCGA-B0-5077-01A-01D-1462-08		129015555	51899705	14	9891											
F12	2161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176831333	176831333	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr5:176831333C>A	ENST00000253496.3	-	9	930	c.882G>T	c.(880-882)caG>caT	p.Q294H	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	294	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.Q294H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GGGTCTGGCACTGTGCCAGGT	0.692									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											17	21	20					5																	176831333		2200	4295	6495	SO:0001583	missense	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.882G>T	5.37:g.176831333C>A	ENSP00000253496:p.Gln294His	1934	P78339	Missense_Mutation	SNP	ENST00000253496.3	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890719	0.72524	.	.	ENSG00000131187	ENST00000253496	T	0.67523	-0.27	5.45	-2.16	0.07080	Kringle (5);Kringle-like fold (1);	0.971785	0.08388	N	0.953400	T	0.65821	0.2728	M	0.65498	2.005	0.80722	D	1	P	0.49696	0.927	P	0.52109	0.69	T	0.66814	-0.5828	10	0.48119	T	0.1	.	0.6653	0.00849	0.1979:0.2926:0.1691:0.3404	.	294	P00748	FA12_HUMAN	H	294	ENSP00000253496:Q294H	ENSP00000253496:Q294H	Q	-	3	2	F12	176763939	0.000000	0.05858	0.058000	0.19502	0.275000	0.26752	-1.012000	0.03649	-0.148000	0.11234	0.561000	0.74099	CAG		0.692	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			A	176831333	C	A	176831333	3	1	171	1	0	0	0	0	1	0	0	0	5341	564	20	4	989	4	F12	5	176831333	Missense_Mutation	SNP	C	TCGA-B0-5077-01A-01D-1462-08	47815778	176831333	4083927	15	9892											
DBN1	1627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176893974	176893974	+	Silent	SNP	C	C	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr5:176893974C>A	ENST00000309007.5	-	7	864	c.645G>T	c.(643-645)cgG>cgT	p.R215R	DBN1_ENST00000393565.1_Silent_p.R215R|DBN1_ENST00000292385.5_Silent_p.R217R	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	215					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.R217R(1)|p.R215R(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGCTCCTGCCGCTCCTGCT	0.692																																																2	Substitution - coding silent(2)	kidney(2)											52	53	53					5																	176893974		2203	4300	6503	SO:0001819	synonymous_variant	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.645G>T	5.37:g.176893974C>A			A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	37	CCDS4420.1																																																																																				0.692	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		A	176893974	C	A	176893974	2	1	171	1	0	0	0	0	0	0	0	1	4254	726	26	4		4	DBN1	5	176893974	Silent	SNP	C	TCGA-B0-5077-01A-01D-1462-08	62641	176893974	4021286	16	9893											
TRIM41	90933	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180651530	180651530	+	Silent	SNP	T	T	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr5:180651530T>A	ENST00000315073.5	+	1	1241	c.531T>A	c.(529-531)ccT>ccA	p.P177P	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Silent_p.P177P	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	177					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P177P(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCAGCCCCTCGGAGGTGCT	0.632																																																2	Substitution - coding silent(2)	kidney(2)											34	39	38					5																	180651530		2203	4300	6503	SO:0001819	synonymous_variant	90933			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.531T>A	5.37:g.180651530T>A			B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Silent	SNP	ENST00000315073.5	37	CCDS4466.1																																																																																				0.632	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		A	180651530	T	A	180651530	2	1	171	1	0	0	0	0	0	0	0	1	16521	1538	54	5		5	TRIM41	5	180651530	Silent	SNP	T	TCGA-B0-5077-01A-01D-1462-08	3757556	180651530	263730	17	9894											
TDP2	51567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24658870	24658870	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr6:24658870G>A	ENST00000378198.4	-	3	514	c.344C>T	c.(343-345)tCt>tTt	p.S115F	TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000545995.1_Missense_Mutation_p.S145F|TDP2_ENST00000341060.3_Missense_Mutation_p.S57F			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	115					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)	p.S115F(1)		kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GGTAATGAGAGAGAACATGCT	0.408								Direct reversal of damage																																								1	Substitution - Missense(1)	kidney(1)											187	167	174					6																	24658870		2203	4300	6503	SO:0001583	missense	51567			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"TRAF and TNF receptor associated protein"	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.344C>T	6.37:g.24658870G>A	ENSP00000367440:p.Ser115Phe		B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978576	0.34942	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000341060	T;T;T	0.24350	1.86;1.86;1.86	5.55	3.67	0.42095	Endonuclease/exonuclease/phosphatase (2);	0.054417	0.85682	D	0.000000	T	0.41282	0.1152	M	0.71581	2.175	0.48236	D	0.999612	D;D	0.69078	0.997;0.99	D;P	0.71414	0.973;0.894	T	0.52041	-0.8628	10	0.72032	D	0.01	-4.1921	18.2517	0.90006	0.0:0.2264:0.7736:0.0	.	145;115	O95551-2;O95551	.;TYDP2_HUMAN	F	115;145;57	ENSP00000367440:S115F;ENSP00000437637:S145F;ENSP00000345345:S57F	ENSP00000345345:S57F	S	-	2	0	TDP2	24766849	1.000000	0.71417	0.678000	0.29963	0.010000	0.07245	4.579000	0.60936	0.714000	0.32081	-1.255000	0.01485	TCT		0.408	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			A	24658870	G	A	24658870	3	1	171	1	0	0	0	0	1	0	0	0	15734	942	33	2	764	2	TDP2	6	24658870	Missense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08		24658870	146456197	18	9895											
LRRC16A	55604	broad.mit.edu;ucsc.edu	37	6	25509937	25509937	+	Silent	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr6:25509937C>T	ENST00000329474.6	+	18	1817	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	483					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.N483N(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AAATACACAACATCACCAGCT	0.353																																																2	Substitution - coding silent(2)	kidney(2)											95	81	85					6																	25509937		1879	4112	5991	SO:0001819	synonymous_variant	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1449C>T	6.37:g.25509937C>T			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	CCDS54973.1																																																																																				0.353	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		T	25509937	C	T	25509937	2	4	171	1	0	0	0	0	0	0	0	1	8973	477	17	2		2	LRRC16A	6	25509937	Silent	SNP	C	TCGA-B0-5077-01A-01D-1462-08	851067	25509937	145605130	19	9896											
MDN1	23195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90513110	90513110	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr6:90513110T>G	ENST00000369393.3	-	2	381	c.266A>C	c.(265-267)gAt>gCt	p.D89A	MDN1_ENST00000428876.1_Missense_Mutation_p.D89A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	89					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.D89A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATGCAGATCATGGTTGAT	0.478																																																1	Substitution - Missense(1)	kidney(1)											274	238	250					6																	90513110		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.266A>C	6.37:g.90513110T>G	ENSP00000358400:p.Asp89Ala		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178768	0.57692	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.31769	1.48;1.48;1.48	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.39384	0.1076	M	0.63428	1.95	0.54753	D	0.999982	D;P	0.89917	1.0;0.568	D;B	0.63703	0.917;0.281	T	0.19745	-1.0296	10	0.40728	T	0.16	.	14.589	0.68351	0.0:0.0:0.0:1.0	.	89;89	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	A	89	ENSP00000358400:D89A;ENSP00000413970:D89A;ENSP00000409664:D89A	ENSP00000358400:D89A	D	-	2	0	MDN1	90569831	1.000000	0.71417	0.987000	0.45799	0.933000	0.57130	7.500000	0.81588	1.917000	0.55516	0.254000	0.18369	GAT		0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			G	90513110	T	G	90513110	3	3	171	1	0	0	0	0	1	0	0	0	9417	1435	50	5	16928	5	MDN1	6	90513110	Missense_Mutation	SNP	T	TCGA-B0-5077-01A-01D-1462-08	65003173	90513110	80601957	20	9897											
CAMK2B	816	hgsc.bcm.edu	37	7	44266158	44266159	+	Frame_Shift_Ins	INS	-	-	G	rs200866892	byFrequency	TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr7:44266158_44266159insG	ENST00000395749.2	-	20	1629_1630	c.1553_1554insC	c.(1552-1554)ccgfs	p.P518fs	CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000358707.3_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	518					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ATGGGCAGGGCGGGGGCCCCAC	0.703																																																0																																										SO:0001589	frameshift_variant	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1554dupC	7.37:g.44266163_44266163dupG	ENSP00000379098:p.Pro518fs		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Frame_Shift_Ins	INS	ENST00000395749.2	37	CCDS5483.1																																																																																				0.703	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		G	44266159	-	G	44266158	7	5	171	1	0	1	1	0	0	0	0	0	2602	755	27	0	462	0	CAMK2B	7	44266158	Frame_Shift_Ins	INS	-	TCGA-B0-5077-01A-01D-1462-08		44266158	114872505	21	9898											
OR2AE1	81392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99474477	99474477	+	Silent	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr7:99474477A>G	ENST00000316368.2	-	1	203	c.180T>C	c.(178-180)taT>taC	p.Y60Y		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y60Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGAGCAGGAAATACATTGGTG	0.478																																																1	Substitution - coding silent(1)	kidney(1)											98	88	91					7																	99474477		2203	4300	6503	SO:0001819	synonymous_variant	81392			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.180T>C	7.37:g.99474477A>G			B2RPD2	Silent	SNP	ENST00000316368.2	37	CCDS34696.1																																																																																				0.478	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			G	99474477	A	G	99474477	2	3	171	1	0	0	0	0	0	0	0	1	10985	108	4	3		3	OR2AE1	7	99474477	Silent	SNP	A	TCGA-B0-5077-01A-01D-1462-08	55208319	99474477	59664186	22	9899											
ZKSCAN1	7586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99631276	99631276	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr7:99631276G>C	ENST00000324306.6	+	6	1382	c.1148G>C	c.(1147-1149)gGt>gCt	p.G383A	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.G347A|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.G170A	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G383A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GATGAATGTGGTAAATGCTTC	0.458																																																1	Substitution - Missense(1)	kidney(1)											81	81	81					7																	99631276		2203	4300	6503	SO:0001583	missense	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1148G>C	7.37:g.99631276G>C	ENSP00000323148:p.Gly383Ala		A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958879	0.74016	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.07021	3.23;3.23;3.23	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	T	0.28466	0.0704	M	0.80982	2.52	0.44798	D	0.997804	D	0.76494	0.999	P	0.60473	0.875	T	0.00708	-1.1600	10	0.62326	D	0.03	.	16.6022	0.84819	0.0:0.0:1.0:0.0	.	383	P17029	ZKSC1_HUMAN	A	383;347;170	ENSP00000323148:G383A;ENSP00000409172:G347A;ENSP00000443508:G170A	ENSP00000323148:G383A	G	+	2	0	ZKSCAN1	99469212	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.114000	0.50383	2.868000	0.98415	0.557000	0.71058	GGT		0.458	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		C	99631276	G	C	99631276	3	2	171	1	0	0	0	0	1	0	0	0	17691	1261	44	4	1166	4	ZKSCAN1	7	99631276	Missense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08	156799	99631276	59507387	23	9900											
TNKS	8658	broad.mit.edu;hgsc.bcm.edu	37	8	9413533	9413533	+	Silent	SNP	G	G	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr8:9413533G>T	ENST00000310430.6	+	1	110	c.84G>T	c.(82-84)ccG>ccT	p.P28P	RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Silent_p.P28P|TNKS_ENST00000522110.1_Silent_p.P28P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	28	Poly-Pro.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.P28P(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CAGCGCCGCCGCCGCCACCTC	0.731																																																2	Substitution - coding silent(2)	kidney(2)											15	18	17					8																	9413533		2145	4220	6365	SO:0001819	synonymous_variant	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.84G>T	8.37:g.9413533G>T			O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	CCDS5974.1																																																																																				0.731	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		T	9413533	G	T	9413533	2	4	171	1	0	0	0	0	0	0	0	1	16324	1074	38	4		4	TNKS	8	9413533	Silent	SNP	G	TCGA-B0-5077-01A-01D-1462-08		9413533	136950489	24	9901											
LOXL2	4017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	23217701	23217701	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr8:23217701C>T	ENST00000389131.3	-	3	802	c.433G>A	c.(433-435)Gtc>Atc	p.V145I	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	145	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.V145I(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CAGTCAGTGACGCCCCAGCCA	0.542																																																1	Substitution - Missense(1)	kidney(1)											92	74	80					8																	23217701		2203	4300	6503	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.433G>A	8.37:g.23217701C>T	ENSP00000373783:p.Val145Ile		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529246	0.85706	.	.	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871;ENST00000518083	T;T;T;T	0.53206	0.63;0.63;0.63;1.31	5.62	5.62	0.85841	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	L	0.43152	1.355	0.58432	D	0.999995	B	0.27316	0.175	B	0.24394	0.053	T	0.18461	-1.0336	10	0.30854	T	0.27	.	18.5877	0.91196	0.0:1.0:0.0:0.0	.	145	Q9Y4K0	LOXL2_HUMAN	I	145;226;186;145	ENSP00000373783:V145I;ENSP00000427883:V226I;ENSP00000429778:V186I;ENSP00000430519:V145I	ENSP00000373783:V145I	V	-	1	0	LOXL2	23273646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.810000	0.62598	2.804000	0.96469	0.655000	0.94253	GTC		0.542	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			T	23217701	C	T	23217701	3	4	171	1	0	0	0	0	1	0	0	0	8902	536	19	1	1939	1	LOXL2	8	23217701	Missense_Mutation	SNP	C	TCGA-B0-5077-01A-01D-1462-08	13804168	23217701	123146321	25	9902											
CPSF1	29894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145634429	145634429	+	Silent	SNP	G	G	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr8:145634429G>C	ENST00000349769.3	-	2	208	c.114C>G	c.(112-114)ctC>ctG	p.L38L	GS1-393G12.14_ENST00000607491.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	38					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.L38L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGTACACGTAGAGCTGCGAGG	0.652																																					NSCLC(133;1088 1848 27708 34777 35269)											1	Substitution - coding silent(1)	kidney(1)											106	102	104					8																	145634429		2203	4300	6503	SO:0001819	synonymous_variant	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.114C>G	8.37:g.145634429G>C			Q96AF0	Silent	SNP	ENST00000349769.3	37	CCDS34966.1																																																																																				0.652	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		C	145634429	G	C	145634429	2	2	171	1	0	0	0	0	0	0	0	1	3826	929	33	4		4	CPSF1	8	145634429	Silent	SNP	G	TCGA-B0-5077-01A-01D-1462-08	122416728	145634429	729593	26	9903											
MPDZ	8777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	13221425	13221427	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr9:13221425_13221427delTCC	ENST00000319217.7	-	7	1067_1069	c.820_822delGGA	c.(820-822)ggadel	p.G274del	MPDZ_ENST00000381022.2_In_Frame_Del_p.G274del|MPDZ_ENST00000447879.1_In_Frame_Del_p.G274del|MPDZ_ENST00000541718.1_In_Frame_Del_p.G274del|MPDZ_ENST00000381015.4_In_Frame_Del_p.G274del|MPDZ_ENST00000536827.1_In_Frame_Del_p.G274del|MPDZ_ENST00000546205.1_In_Frame_Del_p.G274del	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	274	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAGTTGCTTTTCCTCCTATGATG	0.374																																																0																																										SO:0001651	inframe_deletion	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.820_822delGGA	9.37:g.13221428_13221430delTCC	ENSP00000320006:p.Gly274del		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	In_Frame_Del	DEL	ENST00000319217.7	37																																																																																					0.374	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		-	13221427	TCC	-	13221425	7	5	171	1	0	1	0	1	0	0	0	0	9724	1770	62	0	5463	0	MPDZ	9	13221425	In_Frame_Del	DEL	TCC	TCGA-B0-5077-01A-01D-1462-08		13221425	127992006	27	9904											
TTC39B	158219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	15211317	15211317	+	Silent	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr9:15211317C>T	ENST00000512701.2	-	5	597	c.561G>A	c.(559-561)caG>caA	p.Q187Q	TTC39B_ENST00000582994.1_5'Flank|TTC39B_ENST00000355694.2_Silent_p.Q121Q|TTC39B_ENST00000541445.1_Silent_p.Q121Q|TTC39B_ENST00000507285.1_Silent_p.Q22Q|TTC39B_ENST00000507993.1_Silent_p.Q22Q|TTC39B_ENST00000297615.5_Silent_p.Q118Q|TTC39B_ENST00000380850.4_Silent_p.Q187Q			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	187								p.Q187Q(1)|p.Q121Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TCTGGATGTCCTGTTGCTCGA	0.463																																																2	Substitution - coding silent(2)	kidney(2)											159	139	146					9																	15211317		2203	4300	6503	SO:0001819	synonymous_variant	158219			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.561G>A	9.37:g.15211317C>T			A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	CCDS6477.2																																																																																				0.463	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		T	15211317	C	T	15211317	2	4	171	1	0	0	0	0	0	0	0	1	16713	680	24	2		2	TTC39B	9	15211317	Silent	SNP	C	TCGA-B0-5077-01A-01D-1462-08	1989892	15211317	126002114	28	9905											
SURF4	6836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136233529	136233529	+	Silent	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr9:136233529G>A	ENST00000371989.3	-	3	387	c.258C>T	c.(256-258)agC>agT	p.S86S	SURF4_ENST00000545297.1_Silent_p.S86S|SURF4_ENST00000467910.1_Intron|SURF4_ENST00000371991.3_Silent_p.S86S|SURF4_ENST00000485435.2_Silent_p.S86S	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	86					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S86S(1)		kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGAAGTTCCTGCTCAACACCA	0.612																																																1	Substitution - coding silent(1)	kidney(1)											63	54	57					9																	136233529		2203	4300	6503	SO:0001819	synonymous_variant	6836				CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.258C>T	9.37:g.136233529G>A			B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	CCDS6968.1																																																																																				0.612	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		A	136233529	G	A	136233529	2	1	171	1	0	0	0	0	0	0	0	1	15410	1310	46	2		2	SURF4	9	136233529	Silent	SNP	G	TCGA-B0-5077-01A-01D-1462-08	121022212	136233529	4979902	29	9906											
HTR7	3363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	92508881	92508881	+	Missense_Mutation	SNP	G	G	T	rs563848390		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr10:92508881G>T	ENST00000336152.3	-	2	1036	c.1010C>A	c.(1009-1011)aCc>aAc	p.T337N	HTR7_ENST00000371721.3_Missense_Mutation_p.T337N|HTR7_ENST00000371719.2_Missense_Mutation_p.T337N|HTR7_ENST00000277874.6_Missense_Mutation_p.T337N	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	337					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.T337N(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CCAGCACACGGTAAAGGCCCC	0.532																																																2	Substitution - Missense(2)	kidney(2)											81	74	76					10																	92508881		2203	4300	6503	SO:0001583	missense	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1010C>A	10.37:g.92508881G>T	ENSP00000337949:p.Thr337Asn		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657031	0.88154	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	M	0.89601	3.045	0.80722	D	1	D;D	0.61080	0.981;0.989	P;P	0.56398	0.797;0.797	D	0.88349	0.2980	10	0.72032	D	0.01	.	19.0553	0.93062	0.0:0.0:1.0:0.0	.	337;337	P34969;P34969-2	5HT7R_HUMAN;.	N	337	ENSP00000337949:T337N;ENSP00000277874:T337N;ENSP00000360784:T337N;ENSP00000360786:T337N	ENSP00000277874:T337N	T	-	2	0	HTR7	92498861	1.000000	0.71417	0.963000	0.40424	0.993000	0.82548	7.877000	0.87225	2.499000	0.84300	0.650000	0.86243	ACC		0.532	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		T	92508881	G	T	92508881	3	4	171	1	0	0	0	0	1	0	0	0	7454	1261	44	4	445	4	HTR7	10	92508881	Missense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08		92508881	43025866	30	9907											
ZNF518A	9849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	97920188	97920188	+	RNA	SNP	T	T	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr10:97920188T>C	ENST00000534948.1	+	0	4964							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTGCTAAATTTAATGGACATG	0.328																																																0													104	102	103					10																	97920188		1831	4082	5913			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97920188T>C			A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37																																																																																					0.328	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		C	97920188	T	C	97920188	1	2	171	0	1	0	0	0	0	0	0	0	17967	1764	61	3		3	ZNF518A	10	97920188	RNA	SNP	T	TCGA-B0-5077-01A-01D-1462-08	5411307	97920188	37614559	31	9908											
KIAA1598	57698	broad.mit.edu	37	10	118645923	118645923	+	Missense_Mutation	SNP	C	C	T	rs368002468		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr10:118645923C>T	ENST00000355371.4	-	17	2325	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	KIAA1598_ENST00000260777.10_3'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E610K|KIAA1598_ENST00000497044.1_5'UTR|ENO4_ENST00000369207.2_Intron	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	610					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)		p.E610K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GGTTGAATTTCGCCTTCATCC	0.433																																																1	Substitution - Missense(1)	kidney(1)						C	LYS/GLU,	2,1382		0,2,690	385	286	316		1828,	-4.4	0	10		316	0,3182		0,0,1591	no	missense,utr-3	KIAA1598	NM_001127211.1,NM_018330.5	56,	0,2,2281	TT,TC,CC		0.0,0.1445,0.0438	benign,	610/632,	118645923	2,4564	692	1591	2283	SO:0001583	missense	57698			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1828G>A	10.37:g.118645923C>T	ENSP00000347532:p.Glu610Lys		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	C	0.532	-0.857596	0.02630	0.001445	0.0	ENSG00000187164	ENST00000392903;ENST00000355371	.	.	.	5.77	-4.37	0.03633	.	1.301940	0.04721	N	0.419439	T	0.20740	0.0499	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.31779	-0.9931	9	0.12103	T	0.63	-2.0E-4	13.7329	0.62799	0.0:0.3668:0.0:0.6332	.	610;580	A0MZ66;A0MZ66-6	SHOT1_HUMAN;.	K	610	.	ENSP00000347532:E610K	E	-	1	0	KIAA1598	118635913	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.265000	0.08644	-1.024000	0.03338	-2.018000	0.00433	GAA		0.433	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		T	118645923	C	T	118645923	3	4	171	1	0	0	0	0	1	0	0	0	8248	893	31	1	71	1	KIAA1598	10	118645923	Missense_Mutation	SNP	C	TCGA-B0-5077-01A-01D-1462-08	20725735	118645923	16888824	32	9909											
UBQLNL	143630	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5537653	5537653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:5537653G>A	ENST00000380184.1	-	1	282	c.19C>T	c.(19-21)Cga>Tga	p.R7*	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	7								p.R7*(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTGGATGTTCGAGAGATGGCA	0.537																																																1	Substitution - Nonsense(1)	kidney(1)											59	59	59					11																	5537653		2201	4296	6497	SO:0001587	stop_gained	143630			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.19C>T	11.37:g.5537653G>A	ENSP00000369531:p.Arg7*		Q6ZRU1|Q96EK3|Q96MB0	Nonsense_Mutation	SNP	ENST00000380184.1	37	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.892655	0.52121	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	.	.	.	4.84	-0.921	0.10472	.	0.445756	0.16839	N	0.197419	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0453	3.2463	0.06798	0.2711:0.0:0.3985:0.3304	.	.	.	.	X	7	.	ENSP00000369531:R7X	R	-	1	2	UBQLNL	5494229	0.008000	0.16893	0.041000	0.18516	0.003000	0.03518	0.367000	0.20382	0.006000	0.14734	-1.658000	0.00752	CGA		0.537	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		A	5537653	G	A	5537653	4	1	171	1	0	0	0	0	0	1	0	0	16905	1066	37	1	1412	1	UBQLNL	11	5537653	Nonsense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08		5537653	129468863	33	9910											
ANO5	203859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22242734	22242734	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:22242734A>G	ENST00000324559.8	+	5	589	c.272A>G	c.(271-273)aAg>aGg	p.K91R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	91					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.K91R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATGATGTAAAGAAAGACGCA	0.348																																																1	Substitution - Missense(1)	kidney(1)											88	85	86					11																	22242734		2203	4299	6502	SO:0001583	missense	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.272A>G	11.37:g.22242734A>G	ENSP00000315371:p.Lys91Arg			Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	A	2.186	-0.386393	0.04966	.	.	ENSG00000171714	ENST00000324559	T	0.66460	-0.21	4.99	2.65	0.31530	.	0.392722	0.26903	N	0.021918	T	0.47544	0.1451	L	0.28274	0.84	0.21861	N	0.999503	B	0.16166	0.016	B	0.15484	0.013	T	0.24870	-1.0148	10	0.20519	T	0.43	.	7.8866	0.29653	0.7693:0.0:0.2307:0.0	.	91	Q75V66	ANO5_HUMAN	R	91	ENSP00000315371:K91R	ENSP00000315371:K91R	K	+	2	0	ANO5	22199310	1.000000	0.71417	0.856000	0.33681	0.023000	0.10783	2.101000	0.41787	0.338000	0.23692	-0.290000	0.09829	AAG		0.348	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		G	22242734	A	G	22242734	3	3	171	1	0	0	0	0	1	0	0	0	700	72	3	3	290	3	ANO5	11	22242734	Missense_Mutation	SNP	A	TCGA-B0-5077-01A-01D-1462-08	16705081	22242734	112763782	34	9911											
MADD	8567	broad.mit.edu;hgsc.bcm.edu	37	11	47336865	47336865	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:47336865T>C	ENST00000311027.5	+	30	4529	c.4364T>C	c.(4363-4365)aTc>aCc	p.I1455T	MADD_ENST00000395336.3_Missense_Mutation_p.I1455T|MADD_ENST00000405573.2_Missense_Mutation_p.I265T|MADD_ENST00000395344.3_Missense_Mutation_p.I1349T|MADD_ENST00000402799.1_Missense_Mutation_p.I1353T|MADD_ENST00000406482.1_Missense_Mutation_p.I1353T|MADD_ENST00000342922.4_Missense_Mutation_p.I1396T|MADD_ENST00000402192.2_Missense_Mutation_p.I1395T|MADD_ENST00000407859.3_Missense_Mutation_p.I1373T|MADD_ENST00000349238.3_Missense_Mutation_p.I1416T	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.I1455T(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AACGGAGATATCTTTTTCATG	0.493																																																1	Substitution - Missense(1)	kidney(1)											111	103	106					11																	47336865		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4364T>C	11.37:g.47336865T>C	ENSP00000310933:p.Ile1455Thr			Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631478	0.87660	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.50277	3.4;3.28;3.28;3.4;3.35;3.27;3.27;3.35;3.4;0.75	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	N	0.14661	0.345	0.80722	D	1	P;D;P;D;P;D;P;P;P;P;P	0.56287	0.913;0.957;0.927;0.957;0.956;0.975;0.948;0.923;0.956;0.928;0.923	P;P;P;P;P;P;P;P;P;P;P	0.55260	0.535;0.529;0.529;0.772;0.72;0.72;0.571;0.772;0.72;0.597;0.72	T	0.54146	-0.8337	10	0.72032	D	0.01	-19.7875	15.2338	0.73413	0.0:0.0:0.0:1.0	.	265;1349;1349;1455;1353;1353;1353;1416;1373;1455;1396	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	T	1396;1353;1353;1353;1416;1455;1373;1349;1455;1395;265	ENSP00000343902:I1396T;ENSP00000385585:I1353T;ENSP00000384435:I1353T;ENSP00000304505:I1416T;ENSP00000310933:I1455T;ENSP00000384204:I1373T;ENSP00000378753:I1349T;ENSP00000378745:I1455T;ENSP00000384287:I1395T;ENSP00000384483:I265T	ENSP00000310933:I1455T	I	+	2	0	MADD	47293441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.646000	0.83445	1.985000	0.57927	0.460000	0.39030	ATC		0.493	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			C	47336865	T	C	47336865	3	2	171	1	0	0	0	0	1	0	0	0	9154	1435	50	3	4478	3	MADD	11	47336865	Missense_Mutation	SNP	T	TCGA-B0-5077-01A-01D-1462-08	25094131	47336865	87669651	35	9912											
NRXN2	9379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64434814	64434814	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:64434814A>C	ENST00000377551.1	-	8	1917	c.1706T>G	c.(1705-1707)aTg>aGg	p.M569R	NRXN2_ENST00000265459.6_Missense_Mutation_p.M569R|NRXN2_ENST00000409571.1_Missense_Mutation_p.M562R|NRXN2_ENST00000377559.3_Missense_Mutation_p.M538R			Q9P2S2	NRX2A_HUMAN	neurexin 2	569	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.M569R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCAGATCCCATGTCCAGCAG	0.622																																																1	Substitution - Missense(1)	kidney(1)											95	90	92					11																	64434814		2201	4297	6498	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1706T>G	11.37:g.64434814A>C	ENSP00000366774:p.Met569Arg		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156648	0.78114	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.63	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.51477	U	0.000089	D	0.83977	0.5371	L	0.52905	1.665	0.54753	D	0.999981	D;D;P	0.89917	1.0;0.999;0.701	D;D;B	0.74674	0.984;0.981;0.359	D	0.85509	0.1196	10	0.87932	D	0	.	12.0197	0.53336	1.0:0.0:0.0:0.0	.	538;569;315	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	R	569;538;569;538;562	ENSP00000366774:M569R;ENSP00000366782:M538R;ENSP00000265459:M569R;ENSP00000386416:M562R	ENSP00000265459:M569R	M	-	2	0	NRXN2	64191390	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.131000	0.94446	1.936000	0.56123	0.379000	0.24179	ATG		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		C	64434814	A	C	64434814	3	2	171	1	0	0	0	0	1	0	0	0	10668	217	8	5	3761	5	NRXN2	11	64434814	Missense_Mutation	SNP	A	TCGA-B0-5077-01A-01D-1462-08	17097949	64434814	70571702	36	9913											
ARHGEF17	9828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73066597	73066597	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:73066597T>C	ENST00000263674.3	+	4	3823	c.3473T>C	c.(3472-3474)gTa>gCa	p.V1158A	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1158	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V1158A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GATGTCCTAGTAAACATCTAT	0.517																																																1	Substitution - Missense(1)	kidney(1)											108	90	96					11																	73066597		2200	4293	6493	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3473T>C	11.37:g.73066597T>C	ENSP00000263674:p.Val1158Ala		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467248	0.26335	.	.	ENSG00000110237	ENST00000263674	T	0.68181	-0.31	6.08	4.96	0.65561	Dbl homology (DH) domain (5);	0.313124	0.33691	N	0.004660	T	0.49575	0.1565	N	0.16201	0.385	0.42144	D	0.991525	B	0.14805	0.011	B	0.15052	0.012	T	0.46442	-0.9191	10	0.66056	D	0.02	-8.779	11.154	0.48476	0.0:0.0723:0.0:0.9277	.	1158	Q96PE2	ARHGH_HUMAN	A	1158	ENSP00000263674:V1158A	ENSP00000263674:V1158A	V	+	2	0	ARHGEF17	72744245	1.000000	0.71417	0.987000	0.45799	0.362000	0.29581	4.768000	0.62293	1.123000	0.41961	0.533000	0.62120	GTA		0.517	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		C	73066597	T	C	73066597	3	2	171	1	0	0	0	0	1	0	0	0	900	1638	57	3	3487	3	ARHGEF17	11	73066597	Missense_Mutation	SNP	T	TCGA-B0-5077-01A-01D-1462-08	8631783	73066597	61939919	37	9914											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92590423	92590423	+	Silent	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:92590423G>A	ENST00000298047.6	+	19	11426	c.11409G>A	c.(11407-11409)ccG>ccA	p.P3803P	FAT3_ENST00000409404.2_Silent_p.P3803P|FAT3_ENST00000525166.1_Silent_p.P3653P|FAT3_ENST00000533797.1_Silent_p.P138P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3803	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P3803P(2)|p.P378P(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAGAAGCCGTGTCCAGGGG	0.557										TCGA Ovarian(4;0.039)																																						3	Substitution - coding silent(3)	kidney(3)											116	121	119					11																	92590423		2018	4187	6205	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11409G>A	11.37:g.92590423G>A			B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.557	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92590423	G	A	92590423	2	1	171	1	0	0	0	0	0	0	0	1	5693	1132	40	1		1	FAT3	11	92590423	Silent	SNP	G	TCGA-B0-5077-01A-01D-1462-08	19523826	92590423	42416093	38	9915											
CWC15	51503	hgsc.bcm.edu	37	11	94699507	94699508	+	Splice_Site	INS	-	-	T	rs200166995|rs34805065		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:94699507_94699508insT	ENST00000279839.6	-	6	633		c.e6+1		CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGCCAGTGAGATAAGGAGAGGG	0.431													TT|T|TT|deletion	5008	1.0	1.0	1.0	5008	,	,		15235	1.0		1.0	False		,,,				2504	1.0															0										3725,17		1857,11,3						2.5	1		dbSNP_130	139	7864,26		3921,22,2	no	frameshift	CWC15	NM_016403.3		5778,33,5	A1A1,A1R,RR		0.3295,0.4543,0.3697				11589,43				SO:0001630	splice_region_variant	51503			AF161497	CCDS73369.1	11q21	2014-07-03	2014-07-03			ENSG00000150316			26939	protein-coding gene	gene with protein product			"CWC15 homolog (S. cerevisiae)", "CWC15 spliceosome-associated protein homolog (S. cerevisiae)"			10873569, 11884590	Standard	NM_016403		Approved	C11orf5, HSPC148, Cwf15, AD002	uc001pfd.4	Q9P013		ENST00000279839.6:c.510+1->A	11.37:g.94699508_94699508dupT			B2RC17|Q05BV9|Q05DM1|Q9UI29	Frame_Shift_Ins	INS	ENST00000279839.6	37																																																																																					0.431	CWC15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016403	Intron	T	94699508	-	T	94699507	8	5	171	1	0	1	1	0	0	0	1	0	4069	333	12	0	184	0	CWC15	11	94699507	Splice_Site	INS	-	TCGA-B0-5077-01A-01D-1462-08	2109084	94699507	40307009	39	9916											
CEP57	9702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	95564238	95564238	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:95564238A>T	ENST00000325542.5	+	11	1559	c.1321A>T	c.(1321-1323)Aaa>Taa	p.K441*	CEP57_ENST00000541150.1_Nonsense_Mutation_p.K432*|CEP57_ENST00000325486.5_Nonsense_Mutation_p.K415*|CEP57_ENST00000537677.1_Nonsense_Mutation_p.K414*	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	441	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)	p.K441*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAGCTACCAAAAAGACTCT	0.368									Mosaic Variegated Aneuploidy Syndrome																																							1	Substitution - Nonsense(1)	kidney(1)											56	58	57					11																	95564238		2201	4298	6499	SO:0001587	stop_gained	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1321A>T	11.37:g.95564238A>T	ENSP00000317902:p.Lys441*		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Nonsense_Mutation	SNP	ENST00000325542.5	37	CCDS8304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.432628|4.432628	0.83776|0.83776	.|.	.|.	ENSG00000166037|ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150|ENST00000535224	.|.	.|.	.|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.482232|.	0.21493|.	N|.	0.073646|.	.|T	.|0.73305	.|0.3570	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72360	.|-0.4317	.|4	0.87932|.	D|.	0|.	-0.767|-0.767	16.3083|16.3083	0.82859|0.82859	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	414;441;415;432|230	.|.	ENSP00000317487:K415X|.	K|Q	+|+	1|2	0|0	CEP57|CEP57	95203886|95203886	0.891000|0.891000	0.30450|0.30450	0.216000|0.216000	0.23742|0.23742	0.843000|0.843000	0.47879|0.47879	6.071000|6.071000	0.71229|0.71229	2.250000|2.250000	0.74265|0.74265	0.455000|0.455000	0.32223|0.32223	AAA|CAA		0.368	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		T	95564238	A	T	95564238	4	4	171	1	0	0	0	0	0	1	0	0	3258	131	5	5	1363	5	CEP57	11	95564238	Nonsense_Mutation	SNP	A	TCGA-B0-5077-01A-01D-1462-08	864731	95564238	39442278	40	9917	79	2									
CEP57	9702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	95564248	95564248	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:95564248T>C	ENST00000325542.5	+	11	1569	c.1331T>C	c.(1330-1332)cTt>cCt	p.L444P	CEP57_ENST00000541150.1_Missense_Mutation_p.L435P|CEP57_ENST00000325486.5_Missense_Mutation_p.L418P|CEP57_ENST00000537677.1_Missense_Mutation_p.L417P	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	444	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)	p.L444P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAAGACTCTTGATGAAGAA	0.373									Mosaic Variegated Aneuploidy Syndrome																																							1	Substitution - Missense(1)	kidney(1)											56	58	57					11																	95564248		2201	4298	6499	SO:0001583	missense	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1331T>C	11.37:g.95564248T>C	ENSP00000317902:p.Leu444Pro		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	T	7.971	0.749132	0.15710	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150	T;T;T;T	0.33654	1.41;1.4;1.41;1.4	5.89	4.74	0.60224	.	0.984925	0.08296	N	0.967652	T	0.33118	0.0852	L	0.51422	1.61	0.47584	D	0.999465	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.002	T	0.30563	-0.9974	10	0.87932	D	0	-6.2315	4.5921	0.12312	0.0:0.2264:0.1571:0.6165	.	435;418;444	F5H5F7;Q86XR8-2;Q86XR8	.;.;CEP57_HUMAN	P	417;444;418;435	ENSP00000441392:L417P;ENSP00000317902:L444P;ENSP00000317487:L418P;ENSP00000443436:L435P	ENSP00000317487:L418P	L	+	2	0	CEP57	95203896	0.996000	0.38824	0.999000	0.59377	0.734000	0.41952	1.170000	0.31883	1.019000	0.39547	0.455000	0.32223	CTT		0.373	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		C	95564248	T	C	95564248	3	2	171	1	0	0	0	0	1	0	0	0	3258	1609	56	3	1373	3	CEP57	11	95564248	Missense_Mutation	SNP	T	TCGA-B0-5077-01A-01D-1462-08	10	95564248	39442268	41	9918	79	2									
BACE1	23621	hgsc.bcm.edu;ucsc.edu	37	11	117165880	117165894	+	In_Frame_Del	DEL	GCCTTCCCAGTTGGA	GCCTTCCCAGTTGGA	-			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	GCCTTCCCAGTTGGA	GCCTTCCCAGTTGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:117165880_117165894delGCCTTCCCAGTTGGA	ENST00000313005.6	-	3	980_994	c.520_534delTCCAACTGGGAAGGC	c.(520-534)tccaactgggaaggcdel	p.SNWEG174del	BACE1_ENST00000428381.2_Intron|BACE1_ENST00000392937.6_In_Frame_Del_p.SNWEG74del|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000528053.1_In_Frame_Del_p.SNWEG174del|BACE1_ENST00000513780.1_In_Frame_Del_p.SNWEG174del|BACE1_ENST00000510630.1_In_Frame_Del_p.SNWEG74del	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	174					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GCCCCAGGATGCCTTCCCAGTTGGAGCCGTTGATG	0.553																																																0																																										SO:0001651	inframe_deletion	23621			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.520_534delTCCAACTGGGAAGGC	11.37:g.117165880_117165894delGCCTTCCCAGTTGGA	ENSP00000318585:p.Ser174_Gly178del		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	In_Frame_Del	DEL	ENST00000313005.6	37	CCDS8383.1																																																																																				0.553	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			-	117165894	GCCTTCCCAGTTGGA	-	117165880	7	5	171	1	0	1	0	1	0	0	0	0	1281	1306	46	0	999	0	BACE1	11	117165880	In_Frame_Del	DEL	GCCTTCCCAGTTGGA	TCGA-B0-5077-01A-01D-1462-08	21601632	117165880	17840636	42	9919											
ABCG4	64137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119029566	119029566	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:119029566G>T	ENST00000449422.2	+	12	1552	c.1364G>T	c.(1363-1365)aGg>aTg	p.R455M	ABCG4_ENST00000531739.1_Missense_Mutation_p.R455M|ABCG4_ENST00000307417.3_Missense_Mutation_p.R455M|AP002956.1_ENST00000599663.1_5'Flank	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	455	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R455M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTCTTCATGAGGGAGCACCTC	0.627																																																1	Substitution - Missense(1)	kidney(1)											301	218	246					11																	119029566		2200	4295	6495	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1364G>T	11.37:g.119029566G>T	ENSP00000406874:p.Arg455Met		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056612	0.93793	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.77098	-1.07;-1.07;-1.07	5.36	5.36	0.76844	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	D	0.92515	0.7623	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94867	0.8027	10	0.87932	D	0	-24.4164	18.6851	0.91560	0.0:0.0:1.0:0.0	.	455	Q9H172	ABCG4_HUMAN	M	455	ENSP00000304111:R455M;ENSP00000406874:R455M;ENSP00000434318:R455M	ENSP00000304111:R455M	R	+	2	0	ABCG4	118534776	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.832000	0.99423	2.486000	0.83907	0.655000	0.94253	AGG		0.627	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		T	119029566	G	T	119029566	3	4	171	1	0	0	0	0	1	0	0	0	70	1000	35	4	1406	4	ABCG4	11	119029566	Missense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08	1863686	119029566	15976950	43	9920											
OVCH1	341350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	29629166	29629166	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr12:29629166C>T	ENST00000318184.5	-	13	1443	c.1444G>A	c.(1444-1446)Ggt>Agt	p.G482S	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	482	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.G482S(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCAGAATCACCGTAAATCACA	0.398																																																1	Substitution - Missense(1)	kidney(1)											193	184	187					12																	29629166		1894	4118	6012	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1444G>A	12.37:g.29629166C>T	ENSP00000326708:p.Gly482Ser			Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	1.675	-0.507876	0.04231	.	.	ENSG00000187950	ENST00000318184	T	0.16324	2.35	2.5	1.61	0.23674	CUB (5);	.	.	.	.	T	0.05731	0.0150	N	0.03238	-0.38	0.09310	N	1	B	0.31769	0.339	B	0.22152	0.038	T	0.37798	-0.9690	9	0.21014	T	0.42	.	6.457	0.21936	0.0:0.7384:0.0:0.2616	.	482	Q7RTY7	OVCH1_HUMAN	S	482	ENSP00000326708:G482S	ENSP00000326708:G482S	G	-	1	0	OVCH1	29520433	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.415000	0.07106	0.625000	0.30304	0.585000	0.79938	GGT		0.398	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		T	29629166	C	T	29629166	3	4	171	1	0	0	0	0	1	0	0	0	11325	652	23	1	2024	1	OVCH1	12	29629166	Missense_Mutation	SNP	C	TCGA-B0-5077-01A-01D-1462-08		29629166	104222729	44	9921											
MBD6	114785	hgsc.bcm.edu;ucsc.edu	37	12	57919663	57919663	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr12:57919663delG	ENST00000355673.3	+	6	1268	c.912delG	c.(910-912)ctgfs	p.L304fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.L304fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	304	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TGGGGCCCCTGGGAGGGGCCC	0.692																																																0													21	28	26					12																	57919663		2153	4264	6417	SO:0001589	frameshift_variant	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.912delG	12.37:g.57919663delG	ENSP00000347896:p.Leu304fs		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	CCDS8944.1																																																																																				0.692	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			-	57919663	G	-	57919663	7	5	171	1	0	1	0	1	0	0	0	0	9350	1335	47	0	926	0	MBD6	12	57919663	Frame_Shift_Del	DEL	G	TCGA-B0-5077-01A-01D-1462-08	28290497	57919663	75932232	45	9922	80	3									
MBD6	114785	hgsc.bcm.edu	37	12	57919667	57919667	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr12:57919667G>A	ENST00000355673.3	+	6	1272	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	MBD6_ENST00000431731.2_Missense_Mutation_p.G306R	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	306	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GCCCCTGGGAGGGGCCCCCAC	0.692																																																0													21	28	26					12																	57919667		2177	4279	6456	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.916G>A	12.37:g.57919667G>A	ENSP00000347896:p.Gly306Arg		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	g	10.92	1.487432	0.26686	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.09	3.09	0.35607	.	1.017700	0.07891	U	0.971168	T	0.34716	0.0907	N	0.08118	0	0.29435	N	0.859564	D;D	0.71674	0.998;0.994	D;P	0.68943	0.961;0.81	T	0.29731	-1.0002	8	.	.	.	-3.081	6.2814	0.21009	0.1348:0.0:0.8652:0.0	.	306;306	Q6P0P0;Q96DN6	.;MBD6_HUMAN	R	306	.	.	G	+	1	0	MBD6	56205934	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.339000	0.43965	2.023000	0.59567	0.544000	0.68410	GGG		0.692	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			A	57919667	G	A	57919667	3	1	171	1	0	0	0	0	1	0	0	0	9350	1000	35	2	930	2	MBD6	12	57919667	Missense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08	4	57919667	75932228	46	9923	80	3									
MBD6	114785	broad.mit.edu;hgsc.bcm.edu	37	12	57919671	57919671	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr12:57919671C>T	ENST00000355673.3	+	6	1276	c.920C>T	c.(919-921)gCc>gTc	p.A307V	MBD6_ENST00000431731.2_Missense_Mutation_p.A307V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	307	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A307V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTGGGAGGGGCCCCCACGGTG	0.682																																																1	Substitution - Missense(1)	kidney(1)											21	28	26					12																	57919671		2185	4280	6465	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.920C>T	12.37:g.57919671C>T	ENSP00000347896:p.Ala307Val		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	12.11	1.840498	0.32513	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.5	0.492	0.16872	.	1.182250	0.06450	N	0.727480	T	0.18341	0.0440	N	0.08118	0	0.23192	N	0.998149	B;B	0.19445	0.028;0.036	B;B	0.28139	0.086;0.039	T	0.32851	-0.9891	8	.	.	.	-0.0016	3.6367	0.08151	0.1679:0.5709:0.1632:0.098	.	307;307	Q6P0P0;Q96DN6	.;MBD6_HUMAN	V	307	.	.	A	+	2	0	MBD6	56205938	0.452000	0.25713	0.987000	0.45799	0.877000	0.50540	0.272000	0.18644	0.089000	0.17243	-0.256000	0.11100	GCC		0.682	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			T	57919671	C	T	57919671	3	4	171	1	0	0	0	0	1	0	0	0	9350	739	26	2	934	2	MBD6	12	57919671	Missense_Mutation	SNP	C	TCGA-B0-5077-01A-01D-1462-08	4	57919671	75932224	47	9924	80	3									
NAV3	89795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	78400326	78400326	+	Silent	SNP	C	C	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr12:78400326C>G	ENST00000397909.2	+	8	1181	c.1008C>G	c.(1006-1008)tcC>tcG	p.S336S	NAV3_ENST00000266692.7_Silent_p.S336S|NAV3_ENST00000536525.2_Silent_p.S336S|NAV3_ENST00000228327.6_Silent_p.S336S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	336						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S336S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCAGCAAGTCCATGAATGTCA	0.562										HNSCC(70;0.22)																																						1	Substitution - coding silent(1)	kidney(1)											61	63	63					12																	78400326		2101	4226	6327	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1008C>G	12.37:g.78400326C>G			Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	C	8.473	0.858020	0.17178	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.61	4.72	0.59763	.	.	.	.	.	T	0.70649	0.3248	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70081	-0.4970	4	.	.	.	-11.8103	14.7894	0.69827	0.0:0.9308:0.0:0.0692	.	.	.	.	D	160	.	.	H	+	1	0	NAV3	76924457	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.976000	0.40579	1.388000	0.46506	-0.224000	0.12420	CAT		0.562	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		G	78400326	C	G	78400326	2	3	171	1	0	0	0	0	0	0	0	1	10187	581	21	4		4	NAV3	12	78400326	Silent	SNP	C	TCGA-B0-5077-01A-01D-1462-08	20480655	78400326	55451569	48	9925											
BRCA2	675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32899270	32899270	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr13:32899270A>G	ENST00000380152.3	+	4	607	c.374A>G	c.(373-375)gAt>gGt	p.D125G	BRCA2_ENST00000544455.1_Missense_Mutation_p.D125G			P51587	BRCA2_HUMAN	breast cancer 2, early onset	125					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.D125G(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACTAAAATGGATCAAGCAGAT	0.318			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	2	Substitution - Missense(2)	kidney(2)											90	88	89					13																	32899270		2203	4299	6502	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.374A>G	13.37:g.32899270A>G	ENSP00000369497:p.Asp125Gly		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383863	0.25031	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00824	5.65;5.65	5.84	0.0832	0.14432	.	1.182340	0.05915	N	0.632390	T	0.00906	0.0030	L	0.42245	1.32	0.09310	N	1	B;P	0.49090	0.001;0.919	B;B	0.37550	0.001;0.253	T	0.45381	-0.9265	10	0.37606	T	0.19	.	1.5812	0.02635	0.5433:0.1446:0.172:0.1401	.	125;125	P51587;A1YBP1	BRCA2_HUMAN;.	G	125;125;123	ENSP00000369497:D125G;ENSP00000439902:D125G	ENSP00000369497:D125G	D	+	2	0	BRCA2	31797270	0.001000	0.12720	0.000000	0.03702	0.026000	0.11368	0.534000	0.23098	0.112000	0.17975	0.533000	0.62120	GAT		0.318	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		G	32899270	A	G	32899270	3	3	171	1	0	0	0	0	1	0	0	0	1501	333	12	3	384	3	BRCA2	13	32899270	Missense_Mutation	SNP	A	TCGA-B0-5077-01A-01D-1462-08		32899270	82270608	49	9926											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	15	42137191	42137191	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr15:42137191G>A	ENST00000452633.1	+	14	1514	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.E619K|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.E388K|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.E619K|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.E619K			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	388	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)	p.E619K(2)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GGAGCTGGCCGAGCGTGCCCG	0.677																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											18	19	18					15																	42137191		2199	4292	6491	SO:0001583	missense	8681			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1162G>A	15.37:g.42137191G>A	ENSP00000396045:p.Glu388Lys		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	4.620	0.115312	0.08831	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.51	4.6	0.57074	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.071496	0.53938	N	0.000055	T	0.07908	0.0198	L	0.49455	1.56	0.36235	D	0.85289	B;B;B;P	0.46578	0.015;0.019;0.005;0.88	B;B;B;B	0.34180	0.016;0.012;0.006;0.177	T	0.33904	-0.9850	10	0.27785	T	0.31	-26.4936	6.3345	0.21289	0.1614:0.1524:0.6862:0.0	.	388;619;89;619	P0C869;P0C869-7;P0C869-4;P0C869-6	PA24B_HUMAN;.;.;.	K	619;619;388;388	ENSP00000371886:E619K;ENSP00000342785:E619K;ENSP00000416610:E388K;ENSP00000396045:E388K	ENSP00000342785:E619K	E	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39924483	0.508000	0.26154	0.881000	0.34555	0.075000	0.17131	0.626000	0.24492	1.479000	0.48272	0.561000	0.74099	GAG		0.677	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		A	42137191	G	A	42137191	3	1	171	1	0	0	0	0	1	0	0	0	7957	1059	37	1	1925	1	JMJD7-PLA2G4B	15	42137191	Missense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08		42137191	60394201	50	9927											
TBX6	6911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30099894	30099894	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr16:30099894A>T	ENST00000395224.2	-	6	870	c.811T>A	c.(811-813)Ttc>Atc	p.F271I	TBX6_ENST00000279386.2_Missense_Mutation_p.F271I|TBX6_ENST00000553607.1_Missense_Mutation_p.F271I	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	271					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F271I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TTCTCCCGGAAGCCTTTGGCA	0.512																																																1	Substitution - Missense(1)	kidney(1)											128	124	125					16																	30099894		2197	4300	6497	SO:0001583	missense	6911			AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"T-boxes"	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.811T>A	16.37:g.30099894A>T	ENSP00000378650:p.Phe271Ile		Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	A	31	5.061297	0.93846	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.91180	-2.8;-2.8;-2.8	5.95	5.95	0.96441	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	M	0.91038	3.17	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.97027	0.9747	10	0.87932	D	0	.	15.3926	0.74758	1.0:0.0:0.0:0.0	.	271;271	O95947;Q9HA44	TBX6_HUMAN;.	I	271	ENSP00000378650:F271I;ENSP00000279386:F271I;ENSP00000461223:F271I	ENSP00000279386:F271I	F	-	1	0	TBX6	30007395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.280000	0.76307	0.460000	0.39030	TTC		0.512	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		T	30099894	A	T	30099894	3	4	171	1	0	0	0	0	1	0	0	0	15667	72	3	5	515	5	TBX6	16	30099894	Missense_Mutation	SNP	A	TCGA-B0-5077-01A-01D-1462-08		30099894	60254859	51	9928											
JPH3	57338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	87677876	87677876	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr16:87677876G>A	ENST00000284262.2	+	2	637	c.395G>A	c.(394-396)gGc>gAc	p.G132D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	132	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.G132D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ACCTACCAGGGCCAGTGGGTC	0.667																																																1	Substitution - Missense(1)	kidney(1)											40	46	44					16																	87677876		2189	4285	6474	SO:0001583	missense	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.395G>A	16.37:g.87677876G>A	ENSP00000284262:p.Gly132Asp		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619370	0.87460	.	.	ENSG00000154118	ENST00000284262	D	0.95588	-3.75	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99453	1.0941	10	0.87932	D	0	.	17.0497	0.86515	0.0:0.0:1.0:0.0	.	132	Q8WXH2	JPH3_HUMAN	D	132	ENSP00000284262:G132D	ENSP00000284262:G132D	G	+	2	0	JPH3	86235377	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.518000	0.98022	2.334000	0.79466	0.462000	0.41574	GGC		0.667	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			A	87677876	G	A	87677876	3	1	171	1	0	0	0	0	1	0	0	0	7964	1203	42	2	401	2	JPH3	16	87677876	Missense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08	57577982	87677876	2676877	52	9929											
USP43	124739	broad.mit.edu;ucsc.edu	37	17	9559806	9559806	+	Silent	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr17:9559806A>G	ENST00000285199.7	+	2	687	c.591A>G	c.(589-591)gtA>gtG	p.V197V	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.V197V	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	197	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.V198V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGGATCGTGTACATGAGGACC	0.483																																																1	Substitution - coding silent(1)	kidney(1)											72	70	71					17																	9559806		1866	4112	5978	SO:0001819	synonymous_variant	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.591A>G	17.37:g.9559806A>G			A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	CCDS45610.1																																																																																				0.483	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		G	9559806	A	G	9559806	2	3	171	1	0	0	0	0	0	0	0	1	17079	378	14	3		3	USP43	17	9559806	Silent	SNP	A	TCGA-B0-5077-01A-01D-1462-08		9559806	71635404	53	9930											
RAI1	10743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	17696713	17696713	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr17:17696713G>A	ENST00000353383.1	+	3	920	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	RAI1_ENST00000261641.6_Missense_Mutation_p.V151M	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	151					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.V151M(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAAGACAGCAGTGCCCCCCAG	0.662																																																1	Substitution - Missense(1)	kidney(1)											37	37	37					17																	17696713		2203	4300	6503	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.451G>A	17.37:g.17696713G>A	ENSP00000323074:p.Val151Met		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584727	0.46110	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.67865	-0.29;2.43;0.31	4.55	4.55	0.56014	.	0.262014	0.26939	N	0.021730	T	0.74650	0.3744	L	0.54323	1.7	0.36249	D	0.853781	D	0.65815	0.995	P	0.60886	0.88	T	0.78685	-0.2108	10	0.35671	T	0.21	.	15.0886	0.72174	0.0:0.0:1.0:0.0	.	151	Q7Z5J4	RAI1_HUMAN	M	151	ENSP00000323074:V151M;ENSP00000379120:V151M;ENSP00000261641:V151M	ENSP00000261641:V151M	V	+	1	0	RAI1	17637438	0.978000	0.34361	0.645000	0.29479	0.348000	0.29142	5.277000	0.65586	2.074000	0.62210	0.462000	0.41574	GTG		0.662	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		A	17696713	G	A	17696713	3	1	171	1	0	0	0	0	1	0	0	0	13013	1029	36	2	453	2	RAI1	17	17696713	Missense_Mutation	SNP	G	TCGA-B0-5077-01A-01D-1462-08	8136907	17696713	63498497	54	9931											
FAM83G	644815	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18907263	18907263	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr17:18907263T>C	ENST00000388995.6	-	2	315	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.Q31R|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.Q31R|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	31					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.Q31R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CGCCAGCCGCTGCTCCTCGCT	0.652																																																1	Substitution - Missense(1)	kidney(1)											25	31	29					17																	18907263		2089	4217	6306	SO:0001583	missense	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.92A>G	17.37:g.18907263T>C	ENSP00000373647:p.Gln31Arg		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251212	0.59212	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.12039	2.72;2.72	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	L	0.56769	1.78	0.58432	D	0.999997	D	0.76494	0.999	D	0.83275	0.996	T	0.08391	-1.0724	10	0.08837	T	0.75	-28.717	14.977	0.71281	0.0:0.0:0.0:1.0	.	31	A6ND36	FA83G_HUMAN	R	31	ENSP00000373647:Q31R;ENSP00000343279:Q31R	ENSP00000343279:Q31R	Q	-	2	0	FAM83G	18847988	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.204000	0.72143	1.960000	0.56953	0.402000	0.26972	CAG		0.652	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			C	18907263	T	C	18907263	3	2	171	1	0	0	0	0	1	0	0	0	5641	1580	55	3	2399	3	FAM83G	17	18907263	Missense_Mutation	SNP	T	TCGA-B0-5077-01A-01D-1462-08	1210550	18907263	62287947	55	9932											
ADAT3	113179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1913029	1913030	+	Missense_Mutation	DNP	CG	CG	GT	rs374083050		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr19:1913029_1913030CG>GT	ENST00000602400.1	+	2	1163_1164	c.935_936CG>GT	c.(934-936)tCG>tGT	p.S312C	SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000414057.2_Intron|ADAT3_ENST00000329478.2_Missense_Mutation_p.S328C			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	312					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.S312>?(1)|p.S312W(1)|p.S312S(1)		breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGCGCCCTCGCCCGACGGCG	0.708																																																3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	113179			BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	Exception_encountered	19.37:g.1913029_1913030delinsGT	ENSP00000473571:p.Ser312Cys			Missense_Mutation|Silent	SNP	ENST00000602400.1	37																																																																																					0.708	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		GT	1913030	CG	GT	1913029	3	3	171	1	0	0	0	0	1	0	0	0	286	893	31	4	937	4	ADAT3	19	1913029	Missense_Mutation	DNP	CG	TCGA-B0-5077-01A-01D-1462-08		1913029	57215954	56	9933											
SLC23A2	9962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	4880292	4880292	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr20:4880292C>T	ENST00000379333.1	-	6	783	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G131R|SLC23A2_ENST00000424750.2_Missense_Mutation_p.G131R	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	131					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.G131R(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGTCGTACCCCACACACATG	0.542																																																1	Substitution - Missense(1)	kidney(1)											172	150	157					20																	4880292		2203	4300	6503	SO:0001583	missense	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.391G>A	20.37:g.4880292C>T	ENSP00000368637:p.Gly131Arg		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	CCDS13085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.959702|4.959702	0.92791|0.92791	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000423430|ENST00000379333;ENST00000338244;ENST00000424750	.|T;T;T	.|0.20738	.|2.05;2.05;2.05	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51890|0.51890	0.1701|0.1701	M|M	0.84846|0.84846	2.72|2.72	0.43390|0.43390	D|D	0.995504|0.995504	.|D;D;D	.|0.89917	.|0.997;1.0;1.0	.|D;D;D	.|0.97110	.|0.992;1.0;1.0	T|T	0.57027|0.57027	-0.7881|-0.7881	6|10	.|0.49607	.|T	.|0.09	-14.2114|-14.2114	17.107|17.107	0.86666|0.86666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|131;131;131	.|B4DJZ1;A0MSJ5;Q9UGH3	.|.;.;S23A2_HUMAN	E|R	1|131	.|ENSP00000368637:G131R;ENSP00000344322:G131R;ENSP00000406601:G131R	.|ENSP00000344322:G131R	G|G	-|-	2|1	0|0	SLC23A2|SLC23A2	4828292|4828292	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.969000|0.969000	0.65631|0.65631	7.805000|7.805000	0.86005|0.86005	2.347000|2.347000	0.79759|0.79759	0.462000|0.462000	0.41574|0.41574	GGG|GGG		0.542	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			T	4880292	C	T	4880292	3	4	171	1	0	0	0	0	1	0	0	0	14469	623	22	2	1609	2	SLC23A2	20	4880292	Missense_Mutation	SNP	C	TCGA-B0-5077-01A-01D-1462-08		4880292	58145228	57	9934											
ARSH	347527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	2951181	2951181	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chrX:2951181C>A	ENST00000381130.2	+	9	1444	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	482					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.L482I(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCACCACTCCTCTTTGACAT	0.478																																																1	Substitution - Missense(1)	kidney(1)											102	75	84					X																	2951181		2203	4300	6503	SO:0001583	missense	347527			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1444C>A	X.37:g.2951181C>A	ENSP00000370522:p.Leu482Ile			Missense_Mutation	SNP	ENST00000381130.2	37	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	c	10.67	1.414972	0.25465	.	.	ENSG00000205667	ENST00000381130	D	0.98280	-4.84	3.06	3.06	0.35304	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.178683	0.36703	U	0.002443	D	0.98570	0.9522	M	0.84683	2.71	0.24844	N	0.992448	D	0.76494	0.999	D	0.97110	1.0	D	0.94494	0.7704	10	0.36615	T	0.2	.	8.1764	0.31285	0.0:0.8782:0.0:0.1218	.	482	Q5FYA8	ARSH_HUMAN	I	482	ENSP00000370522:L482I	ENSP00000370522:L482I	L	+	1	0	ARSH	2961181	1.000000	0.71417	0.051000	0.19133	0.046000	0.14306	1.123000	0.31308	1.307000	0.44944	0.513000	0.50165	CTC		0.478	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		A	2951181	C	A	2951181	3	1	171	1	0	0	0	0	1	0	0	0	993	681	24	4	1478	4	ARSH	23	2951181	Missense_Mutation	SNP	C	TCGA-B0-5077-01A-01D-1462-08		2951181	152319379	58	9935											
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53231127	53231127	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chrX:53231127T>A	ENST00000375401.3	-	13	2307	c.1775A>T	c.(1774-1776)gAg>gTg	p.E592V	KDM5C_ENST00000452825.3_Missense_Mutation_p.E525V|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.E592V|KDM5C_ENST00000375383.3_Missense_Mutation_p.E551V|KDM5C_ENST00000404049.3_Missense_Mutation_p.E591V	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	592	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E525V(1)|p.E592V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GATGACAAACTCTCCTGCACA	0.498			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Missense(2)	kidney(2)											121	104	110					X																	53231127		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1775A>T	X.37:g.53231127T>A	ENSP00000364550:p.Glu592Val		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.856970	0.91433	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.68	5.68	0.88126	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	H	0.96805	3.885	0.80722	D	1	P;B;B	0.45240	0.854;0.45;0.45	P;B;B	0.47299	0.543;0.426;0.426	D	0.90884	0.4756	10	0.87932	D	0	-5.7073	12.6825	0.56930	0.0:0.0:0.0:1.0	.	525;591;592	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	V	525;592;591;592;551	ENSP00000445176:E525V;ENSP00000364550:E592V;ENSP00000385394:E591V;ENSP00000364528:E592V;ENSP00000364532:E551V	ENSP00000364528:E592V	E	-	2	0	KDM5C	53247852	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.040000	0.89188	1.902000	0.55061	0.486000	0.48141	GAG		0.498	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53231127	T	A	53231127	3	1	171	1	0	0	0	0	1	0	0	0	8137	1551	54	5	3061	5	KDM5C	23	53231127	Missense_Mutation	SNP	T	TCGA-B0-5077-01A-01D-1462-08	50279946	53231127	102039433	59	9936											
LHFPL1	340596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	111874741	111874741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chrX:111874741delA	ENST00000371968.3	-	4	809	c.570delT	c.(568-570)gctfs	p.A190fs	LHFPL1_ENST00000478229.1_5'UTR|LHFPL1_ENST00000536453.1_Frame_Shift_Del_p.A157fs	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	190						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGTTTCTTCCAGCAAAGCAAG	0.507																																																0													94	84	88					X																	111874741		2203	4300	6503	SO:0001589	frameshift_variant	340596			AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.570delT	X.37:g.111874741delA	ENSP00000361036:p.Ala190fs		A8K1N1|Q496M9|Q496N0|Q6UXU2	Frame_Shift_Del	DEL	ENST00000371968.3	37	CCDS14562.1																																																																																				0.507	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		-	111874741	A	-	111874741	7	5	171	1	0	1	0	1	0	0	0	0	8766	175	7	0	96	0	LHFPL1	23	111874741	Frame_Shift_Del	DEL	A	TCGA-B0-5077-01A-01D-1462-08	58643614	111874741	43395819	60	9937											
C1QC	714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22973841	22973841	+	Silent	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:22973841C>A	ENST00000374639.3	+	3	421	c.303C>A	c.(301-303)ccC>ccA	p.P101P	C1QC_ENST00000374637.1_Silent_p.P101P|C1QC_ENST00000374640.4_Silent_p.P101P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	101	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P101P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCCCGGCCCCATGGGCATCC	0.642																																					Ovarian(26;671 750 8290 29071 43278)											1	Substitution - coding silent(1)	kidney(1)											45	51	49					1																	22973841		2203	4300	6503	SO:0001819	synonymous_variant	714			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.303C>A	1.37:g.22973841C>A			Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	CCDS227.1																																																																																				0.642	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		A	22973841	C	A	22973841	2	1	172	1	0	0	0	0	0	0	0	1	1959	581	21	4		4	C1QC	1	22973841	Silent	SNP	C	TCGA-B0-5080-01A-01D-1501-10		22973841	226276780	1	9938											
RCC1	1104	broad.mit.edu;hgsc.bcm.edu	37	1	28862846	28862846	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:28862846T>A	ENST00000373833.6	+	11	1175	c.890T>A	c.(889-891)gTg>gAg	p.V297E	RCC1_ENST00000373831.3_Missense_Mutation_p.V328E|RCC1_ENST00000398958.2_Missense_Mutation_p.V297E|RCC1_ENST00000373832.1_Missense_Mutation_p.V297E			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	297					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.V297E(1)|p.V328E(1)		breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCCTGGGTGGGCTTCTCT	0.562																																																2	Substitution - Missense(2)	kidney(2)											126	129	128					1																	28862846		2203	4300	6503	SO:0001583	missense	1104			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.890T>A	1.37:g.28862846T>A	ENSP00000362939:p.Val297Glu		Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	CCDS323.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.823077	0.71143	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	5.8	5.8	0.92144	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.171138	0.50627	D	0.000108	D	0.92799	0.7710	M	0.79123	2.44	0.80722	D	1	B;D;D	0.54772	0.028;0.968;0.961	B;D;D	0.65684	0.074;0.937;0.914	D	0.93094	0.6502	10	0.54805	T	0.06	-15.3774	14.9715	0.71238	0.0:0.0:0.0:1.0	.	328;314;297	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	E	297;297;297;328;314	ENSP00000381931:V297E;ENSP00000362939:V297E;ENSP00000362938:V297E;ENSP00000362937:V328E;ENSP00000413644:V314E	ENSP00000362937:V328E	V	+	2	0	RCC1	28735433	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.619000	0.83057	2.212000	0.71576	0.533000	0.62120	GTG		0.562	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		A	28862846	T	A	28862846	3	1	172	1	0	0	0	0	1	0	0	0	13179	1696	59	5	1013	5	RCC1	1	28862846	Missense_Mutation	SNP	T	TCGA-B0-5080-01A-01D-1501-10	5889005	28862846	220387775	2	9939											
CACHD1	57685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	65047954	65047954	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:65047954A>T	ENST00000371073.2	+	3	377	c.377A>T	c.(376-378)cAa>cTa	p.Q126L	MIR4794_ENST00000582305.1_RNA|CACHD1_ENST00000290039.5_Missense_Mutation_p.Q75L|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	126					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.Q75L(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACTGCAATTCAAGACTGCTGT	0.398																																																1	Substitution - Missense(1)	kidney(1)											211	189	196					1																	65047954		1883	4119	6002	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.377A>T	1.37:g.65047954A>T	ENSP00000360113:p.Gln126Leu		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	A	16.66	3.184070	0.57800	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24908	1.83;1.83	5.63	5.63	0.86233	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	N	0.08118	0	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	T	0.28138	-1.0053	10	0.31617	T	0.26	-19.4221	15.8498	0.78921	1.0:0.0:0.0:0.0	.	126	Q5VU97	CAHD1_HUMAN	L	126;75	ENSP00000360113:Q126L;ENSP00000290039:Q75L	ENSP00000290039:Q75L	Q	+	2	0	CACHD1	64820542	1.000000	0.71417	0.977000	0.42913	0.636000	0.38137	8.792000	0.91856	2.157000	0.67596	0.533000	0.62120	CAA		0.398	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		T	65047954	A	T	65047954	3	4	172	1	0	0	0	0	1	0	0	0	2539	130	5	5	234	5	CACHD1	1	65047954	Missense_Mutation	SNP	A	TCGA-B0-5080-01A-01D-1501-10	36185108	65047954	184202667	3	9940											
DDX20	11218	broad.mit.edu;ucsc.edu	37	1	112302139	112302139	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:112302139T>C	ENST00000369702.4	+	3	1134	c.514T>C	c.(514-516)Tca>Cca	p.S172P	DDX20_ENST00000536167.1_Intron|DDX20_ENST00000475700.1_5'Flank	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	172	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.S172P(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCCCATTATCACAAGACAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											128	125	126					1																	112302139		2203	4300	6503	SO:0001583	missense	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.514T>C	1.37:g.112302139T>C	ENSP00000358716:p.Ser172Pro		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004706	0.35320	.	.	ENSG00000064703	ENST00000369702	T	0.15603	2.41	4.97	3.84	0.44239	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.499782	0.21078	N	0.080521	T	0.03011	0.0089	N	0.15975	0.35	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.26360	-1.0105	10	0.44086	T	0.13	-2.4846	3.4821	0.07606	0.2101:0.1759:0.0:0.614	.	172	Q9UHI6	DDX20_HUMAN	P	172	ENSP00000358716:S172P	ENSP00000358716:S172P	S	+	1	0	DDX20	112103662	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.414000	0.52693	0.742000	0.32697	0.482000	0.46254	TCA		0.383	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		C	112302139	T	C	112302139	3	2	172	1	0	0	0	0	1	0	0	0	4350	1435	50	3	524	3	DDX20	1	112302139	Missense_Mutation	SNP	T	TCGA-B0-5080-01A-01D-1501-10	47254185	112302139	136948482	4	9941											
FCRL4	83417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157566118	157566118	+	Splice_Site	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:157566118C>T	ENST00000271532.1	-	2	187	c.52G>A	c.(52-54)Gca>Aca	p.A18T		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	18		Breakpoint for insertion to form FCRL4- IGHA1 fusion protein.			immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A18T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAGGACTTACCAGATTGTCCA	0.418																																																1	Substitution - Missense(1)	kidney(1)											73	78	76					1																	157566118		2203	4300	6503	SO:0001630	splice_region_variant	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.52+1G>A	1.37:g.157566118C>T			Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014359	0.75161	.	.	ENSG00000163518	ENST00000271532	T	0.20200	2.09	4.68	4.68	0.58851	.	0.268976	0.19814	N	0.105476	T	0.22820	0.0551	M	0.77406	2.37	0.41499	D	0.988272	P	0.46784	0.884	P	0.47162	0.54	T	0.02020	-1.1228	9	.	.	.	.	12.9675	0.58492	0.0:1.0:0.0:0.0	.	18	Q96PJ5	FCRL4_HUMAN	T	18	ENSP00000271532:A18T	.	A	-	1	0	FCRL4	155832742	0.905000	0.30787	0.940000	0.37924	0.867000	0.49689	1.604000	0.36804	2.420000	0.82092	0.467000	0.42956	GCA		0.418	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	Missense_Mutation	T	157566118	C	T	157566118	5	4	172	1	0	0	0	0	0	0	1	0	5799	608	21	2	1539	2	FCRL4	1	157566118	Splice_Site	SNP	C	TCGA-B0-5080-01A-01D-1501-10	45263979	157566118	91684503	5	9942											
CENPF	1063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214802408	214802408	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:214802408A>T	ENST00000366955.3	+	8	1256	c.1088A>T	c.(1087-1089)aAa>aTa	p.K363I		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.K363I(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGGAACAAAAACTGAAAAAA	0.289																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - Missense(1)	kidney(1)											47	53	51					1																	214802408		2202	4300	6502	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1088A>T	1.37:g.214802408A>T	ENSP00000355922:p.Lys363Ile		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.565902	0.86439	.	.	ENSG00000117724	ENST00000366955	T	0.79554	-1.28	5.61	5.61	0.85477	.	0.000000	0.37012	N	0.002284	D	0.89698	0.6790	.	.	.	0.49389	D	0.999786	D	0.76494	0.999	D	0.75020	0.985	D	0.91017	0.4854	9	0.72032	D	0.01	.	15.47	0.75434	1.0:0.0:0.0:0.0	.	363	P49454	CENPF_HUMAN	I	363	ENSP00000355922:K363I	ENSP00000355922:K363I	K	+	2	0	CENPF	212869031	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	7.356000	0.79445	2.134000	0.65973	0.533000	0.62120	AAA		0.289	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214802408	A	T	214802408	3	4	172	1	0	0	0	0	1	0	0	0	3233	14	1	5	1114	5	CENPF	1	214802408	Missense_Mutation	SNP	A	TCGA-B0-5080-01A-01D-1501-10	57236290	214802408	34448213	6	9943											
GALNT2	2590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	230398728	230398728	+	Silent	SNP	T	T	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:230398728T>A	ENST00000366672.4	+	13	1362	c.1290T>A	c.(1288-1290)ctT>ctA	p.L430L	GALNT2_ENST00000543760.1_Silent_p.L392L|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000541865.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	430					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L430L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AATGGTACCTTGAAAATGTCT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											86	90	89					1																	230398728		2203	4300	6503	SO:0001819	synonymous_variant	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1290T>A	1.37:g.230398728T>A			A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	CCDS1582.1																																																																																				0.428	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		A	230398728	T	A	230398728	2	1	172	1	0	0	0	0	0	0	0	1	6215	1799	63	5		5	GALNT2	1	230398728	Silent	SNP	T	TCGA-B0-5080-01A-01D-1501-10	15596320	230398728	18851893	7	9944											
APOB	338	broad.mit.edu;ucsc.edu	37	2	21256217	21256217	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:21256217C>G	ENST00000233242.1	-	9	1205	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	APOB_ENST00000399256.4_Missense_Mutation_p.D360H	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	360	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.D360H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCTTCATCACTGAGGCCT	0.423																																																1	Substitution - Missense(1)	kidney(1)											112	106	108					2																	21256217		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1078G>C	2.37:g.21256217C>G	ENSP00000233242:p.Asp360His		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304833	0.23736	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.39997	1.05;1.05	5.53	-8.69	0.00855	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	2.010790	0.02230	N	0.064859	T	0.16085	0.0387	N	0.02011	-0.69	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.17289	-1.0374	10	0.17832	T	0.49	.	10.7637	0.46279	0.0:0.4934:0.1796:0.327	.	360	P04114	APOB_HUMAN	H	360	ENSP00000233242:D360H;ENSP00000382200:D360H	ENSP00000233242:D360H	D	-	1	0	APOB	21109722	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.208000	0.09371	-1.541000	0.01727	-0.302000	0.09304	GAT		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			G	21256217	C	G	21256217	3	3	172	1	0	0	0	0	1	0	0	0	785	826	29	4	12697	4	APOB	2	21256217	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10		21256217	221943156	8	9945											
LRPPRC	10128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44201856	44201856	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:44201856G>T	ENST00000260665.7	-	8	963	c.906C>A	c.(904-906)gaC>gaA	p.D302E	LRPPRC_ENST00000409946.1_Missense_Mutation_p.D302E|LRPPRC_ENST00000409659.1_Missense_Mutation_p.D302E	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	302					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.D302E(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTAAATCACGGTCCATAAGGT	0.343																																																1	Substitution - Missense(1)	kidney(1)											51	54	53					2																	44201856		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.906C>A	2.37:g.44201856G>T	ENSP00000260665:p.Asp302Glu		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959599	0.53400	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	T;T;T;T	0.67171	0.36;0.35;0.34;-0.25	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.77948	0.4207	M	0.83953	2.67	0.54753	D	0.999985	D;P;D	0.76494	0.996;0.873;0.999	P;P;D	0.85130	0.849;0.533;0.997	T	0.78738	-0.2087	10	0.02654	T	1	-0.901	10.666	0.45731	0.1536:0.0:0.8464:0.0	.	202;276;302	F5H4J6;C9JCA9;P42704	.;.;LPPRC_HUMAN	E	202;302;302;302;276	ENSP00000260665:D302E;ENSP00000386234:D302E;ENSP00000386562:D302E;ENSP00000403637:D276E	ENSP00000260665:D302E	D	-	3	2	LRPPRC	44055360	0.999000	0.42202	1.000000	0.80357	0.633000	0.38033	0.595000	0.24029	1.422000	0.47177	0.655000	0.94253	GAC		0.343	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		T	44201856	G	T	44201856	3	4	172	1	0	0	0	0	1	0	0	0	8967	1252	44	4	3402	4	LRPPRC	2	44201856	Missense_Mutation	SNP	G	TCGA-B0-5080-01A-01D-1501-10	22945639	44201856	198997517	9	9946											
PAPOLG	64895	broad.mit.edu;ucsc.edu	37	2	60987314	60987314	+	Silent	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:60987314T>C	ENST00000238714.3	+	2	312	c.63T>C	c.(61-63)atT>atC	p.I21I		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	21					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.I21I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATTATGGAATTACCTCCCCAA	0.348																																					GBM(183;1497 2932 21839 46797)											1	Substitution - coding silent(1)	kidney(1)											92	89	90					2																	60987314		2203	4300	6503	SO:0001819	synonymous_variant	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.63T>C	2.37:g.60987314T>C			B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Silent	SNP	ENST00000238714.3	37	CCDS1863.1																																																																																				0.348	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		C	60987314	T	C	60987314	2	2	172	1	0	0	0	0	0	0	0	1	11433	1742	61	3		3	PAPOLG	2	60987314	Silent	SNP	T	TCGA-B0-5080-01A-01D-1501-10	16785458	60987314	182212059	10	9947											
THSD7B	80731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	138330034	138330034	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:138330034G>A	ENST00000409968.1	+	17	3509	c.3331G>A	c.(3331-3333)Gat>Aat	p.D1111N	THSD7B_ENST00000413152.2_Missense_Mutation_p.D1083N|THSD7B_ENST00000272643.3_Missense_Mutation_p.D1114N|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1113	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.D1083N(1)|p.D1114N(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGCAACCAGGATGAAATTCC	0.453																																																2	Substitution - Missense(2)	kidney(2)											99	102	101					2																	138330034		1966	4149	6115	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3331G>A	2.37:g.138330034G>A	ENSP00000387145:p.Asp1111Asn			Silent	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	G	9.781	1.175220	0.21704	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.22539	2.48;2.33;1.95	5.0	-0.271	0.12922	.	0.495783	0.23215	N	0.050623	T	0.09992	0.0245	N	0.20357	0.565	0.80722	D	1	B	0.27380	0.177	B	0.31495	0.131	T	0.21314	-1.0249	10	0.23302	T	0.38	.	2.4829	0.04592	0.1382:0.3416:0.2897:0.2305	.	1083	C9JKN6	.	N	1111;1114;1083	ENSP00000387145:D1111N;ENSP00000272643:D1114N;ENSP00000413841:D1083N	ENSP00000272643:D1114N	D	+	1	0	THSD7B	138046504	1.000000	0.71417	0.417000	0.26559	0.008000	0.06430	2.098000	0.41757	-0.032000	0.13758	-0.189000	0.12847	GAT		0.453	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	138330034	G	A	138330034	3	1	172	1	0	0	0	0	1	0	0	0	15885	1174	41	2	3305	2	THSD7B	2	138330034	Missense_Mutation	SNP	G	TCGA-B0-5080-01A-01D-1501-10	77342720	138330034	104869339	11	9948											
PMS1	5378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	190738266	190738266	+	Missense_Mutation	SNP	A	A	G	rs369909997		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:190738266A>G	ENST00000441310.2	+	12	2751	c.2518A>G	c.(2518-2520)Aat>Gat	p.N840D	PMS1_ENST00000447232.2_Missense_Mutation_p.N678D|PMS1_ENST00000432292.3_Missense_Mutation_p.N664D|PMS1_ENST00000418224.3_Missense_Mutation_p.N664D|PMS1_ENST00000409823.3_Missense_Mutation_p.N801D	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	840					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.N840D(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AGGAATGGCTAATTGTCTCCC	0.303			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	1	Substitution - Missense(1)	kidney(1)						A	ASP/ASN,ASP/ASN,ASP/ASN	0,4406		0,0,2203	45	50	48		2032,2401,2518	4.8	1	2		48	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	PMS1	NM_001128144.1,NM_001128143.1,NM_000534.4	23,23,23	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	678/771,801/894,840/933	190738266	1,12999	2203	4297	6500	SO:0001583	missense	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2518A>G	2.37:g.190738266A>G	ENSP00000406490:p.Asn840Asp		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844412	0.32606	0.0	1.16E-4	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593;ENST00000452382	D;D;D;D;D;D;T	0.96427	-2.33;-2.04;-2.5;-2.84;-2.04;-4.01;1.91	5.97	4.79	0.61399	.	0.321794	0.41194	D	0.000928	D	0.90092	0.6905	N	0.12182	0.205	0.26429	N	0.975979	B;B;P;B	0.46395	0.057;0.007;0.877;0.004	B;B;B;B	0.40741	0.01;0.003;0.339;0.002	T	0.82412	-0.0470	10	0.12766	T	0.61	-8.0473	13.1523	0.59496	0.8665:0.1335:0.0:0.0	.	463;801;678;840	Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;PMS1_HUMAN	D	840;664;801;678;664;463;228	ENSP00000406490:N840D;ENSP00000404492:N664D;ENSP00000387125:N801D;ENSP00000401064:N678D;ENSP00000398378:N664D;ENSP00000387169:N463D;ENSP00000396232:N228D	ENSP00000387169:N463D	N	+	1	0	PMS1	190446511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.036000	0.57304	1.033000	0.39918	0.528000	0.53228	AAT		0.303	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			G	190738266	A	G	190738266	3	3	172	1	0	0	0	0	1	0	0	0	12144	362	13	3	2560	3	PMS1	2	190738266	Missense_Mutation	SNP	A	TCGA-B0-5080-01A-01D-1501-10	52408232	190738266	52461107	12	9949											
DOCK10	55619	broad.mit.edu;ucsc.edu	37	2	225637922	225637922	+	Silent	SNP	C	C	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:225637922C>G	ENST00000258390.7	-	53	6223	c.6156G>C	c.(6154-6156)gtG>gtC	p.V2052V	DOCK10_ENST00000409592.3_Silent_p.V2046V	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2052	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V559V(2)|p.V2050V(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGATCATGTCCACTTCTTCCA	0.473																																																4	Substitution - coding silent(4)	kidney(4)											111	106	108					2																	225637922		2175	4275	6450	SO:0001819	synonymous_variant	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6156G>C	2.37:g.225637922C>G			B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	CCDS46528.1																																																																																				0.473	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			G	225637922	C	G	225637922	2	3	172	1	0	0	0	0	0	0	0	1	4687	581	21	4		4	DOCK10	2	225637922	Silent	SNP	C	TCGA-B0-5080-01A-01D-1501-10	34899656	225637922	17561451	13	9950											
STX19	415117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	93733283	93733283	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr3:93733283T>G	ENST00000315099.2	-	2	1087	c.831A>C	c.(829-831)agA>agC	p.R277S	ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000539730.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	277					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)		p.R277S(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TGCAAGGATTTCTTTTTTTGT	0.328																																																1	Substitution - Missense(1)	kidney(1)											54	53	53					3																	93733283		2202	4296	6498	SO:0001583	missense	415117			AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.831A>C	3.37:g.93733283T>G	ENSP00000320679:p.Arg277Ser			Missense_Mutation	SNP	ENST00000315099.2	37	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124637	0.37533	.	.	ENSG00000178750	ENST00000315099	T	0.44881	0.91	5.04	5.04	0.67666	.	0.230608	0.47852	D	0.000206	T	0.32164	0.0820	L	0.34521	1.04	0.39297	D	0.964833	B	0.32245	0.361	B	0.28139	0.086	T	0.16689	-1.0394	10	0.27785	T	0.31	.	15.4866	0.75573	0.0:0.0:0.0:1.0	.	277	Q8N4C7	STX19_HUMAN	S	277	ENSP00000320679:R277S	ENSP00000320679:R277S	R	-	3	2	STX19	95215973	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.721000	0.38032	2.199000	0.70637	0.528000	0.53228	AGA		0.328	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		G	93733283	T	G	93733283	3	3	172	1	0	0	0	0	1	0	0	0	15347	1780	62	5	57	5	STX19	3	93733283	Missense_Mutation	SNP	T	TCGA-B0-5080-01A-01D-1501-10		93733283	104289147	14	9951											
ABI3BP	25890	broad.mit.edu	37	3	100595388	100595388	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr3:100595388C>G	ENST00000284322.5	-	7	843	c.734G>C	c.(733-735)aGg>aCg	p.R245T	ABI3BP_ENST00000471714.1_Missense_Mutation_p.R245T|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R245T	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	245					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.R245T(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATTAGTTTCCTTGGGACATA	0.363																																																2	Substitution - Missense(2)	kidney(2)											162	153	156					3																	100595388		1869	4105	5974	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.734G>C	3.37:g.100595388C>G	ENSP00000284322:p.Arg245Thr		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.32|13.32	2.201532|2.201532	0.38905|0.38905	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000483129|ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258	.|T;T	.|0.23147	.|2.15;1.92	5.39|5.39	-2.11|-2.11	0.07187|0.07187	.|.	.|1.075440	.|0.07042	.|N	.|0.830377	T|T	0.29423|0.29423	0.0733|0.0733	L|L	0.44542|0.44542	1.39|1.39	0.54753|0.54753	D|D	0.999986|0.999986	.|P;P;P	.|0.46220	.|0.611;0.874;0.732	.|B;P;B	.|0.47402	.|0.159;0.546;0.204	T|T	0.47032|0.47032	-0.9148|-0.9148	5|10	.|0.72032	.|D	.|0.01	-1.7801|-1.7801	11.796|11.796	0.52100|0.52100	0.0:0.1958:0.0:0.8042|0.0:0.1958:0.0:0.8042	.|.	.|238;245;245	.|Q9H717;Q5JPC9;Q7Z7G0	.|.;.;TARSH_HUMAN	N|T	20|245;245;245;164	.|ENSP00000420524:R245T;ENSP00000284322:R245T	.|ENSP00000284322:R245T	K|R	-|-	3|2	2|0	ABI3BP|ABI3BP	102078078|102078078	0.151000|0.151000	0.22747|0.22747	0.902000|0.902000	0.35471|0.35471	0.849000|0.849000	0.48306|0.48306	-0.221000|-0.221000	0.09202|0.09202	-0.286000|-0.286000	0.09076|0.09076	-0.355000|-0.355000	0.07637|0.07637	AAG|AGG		0.363	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			G	100595388	C	G	100595388	3	3	172	1	0	0	0	0	1	0	0	0	91	681	24	4	2609	4	ABI3BP	3	100595388	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10	6862105	100595388	97427042	15	9952											
TP63	8626	broad.mit.edu;ucsc.edu	37	3	189608582	189608582	+	Silent	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr3:189608582T>C	ENST00000264731.3	+	13	1746	c.1657T>C	c.(1657-1659)Tta>Cta	p.L553L	TP63_ENST00000392460.3_Intron|TP63_ENST00000456148.1_Silent_p.L455L|TP63_ENST00000449992.1_Silent_p.L374L|TP63_ENST00000320472.5_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000354600.5_Silent_p.L459L|TP63_ENST00000440651.2_Silent_p.L549L|TP63_ENST00000392461.3_Intron|TP63_ENST00000382063.4_Silent_p.L468L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	553	SAM.		L -> F (in AEC). {ECO:0000269|PubMed:11159940}.		apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.L553L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTGCAGTTTCTTAGCGAGGTT	0.468										HNSCC(45;0.13)																																						1	Substitution - coding silent(1)	kidney(1)	GRCh37	CM010361	TP63	M							91	80	84					3																	189608582		2203	4300	6503	SO:0001819	synonymous_variant	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1657T>C	3.37:g.189608582T>C			O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	CCDS3293.1																																																																																				0.468	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		C	189608582	T	C	189608582	2	2	172	1	0	0	0	0	0	0	0	1	16397	1606	56	3		3	TP63	3	189608582	Silent	SNP	T	TCGA-B0-5080-01A-01D-1501-10	89013194	189608582	8413848	16	9953											
CENPC1	1060	broad.mit.edu;hgsc.bcm.edu	37	4	68384984	68384984	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr4:68384984C>T	ENST00000273853.6	-	6	818	c.568G>A	c.(568-570)Gta>Ata	p.V190I		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	190					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.V190I(1)									AGCATATTTACTGAATTTTCA	0.308																																																1	Substitution - Missense(1)	kidney(1)											69	68	68					4																	68384984		1802	4070	5872	SO:0001583	missense	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.568G>A	4.37:g.68384984C>T	ENSP00000273853:p.Val190Ile		Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	8.084	0.773127	0.16051	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.95	1.11	0.20524	.	1.079530	0.07210	N	0.859019	T	0.28566	0.0707	L	0.31926	0.97	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12156	0.007;0.007	T	0.25293	-1.0136	9	0.30854	T	0.27	0.2627	2.949	0.05855	0.3017:0.4398:0.1697:0.0888	.	190;190	Q8IW27;Q03188	.;CENPC_HUMAN	I	190	.	ENSP00000273853:V190I	V	-	1	0	CENPC1	68067579	0.622000	0.27085	0.022000	0.16811	0.483000	0.33249	-0.104000	0.10923	-0.025000	0.13918	-0.293000	0.09583	GTA		0.308	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			T	68384984	C	T	68384984	3	4	172	1	0	0	0	0	1	0	0	0	3231	565	20	2	2319	2	CENPC1	4	68384984	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10		68384984	122769292	17	9954											
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85642627	85642627	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr4:85642627A>T	ENST00000295888.4	-	47	7947	c.7540T>A	c.(7540-7542)Tcc>Acc	p.S2514T	WDFY3_ENST00000322366.6_Missense_Mutation_p.S2497T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2514	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.S2514T(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTTCTATGGAGCTGCCCTCA	0.473																																																1	Substitution - Missense(1)	kidney(1)											184	168	173					4																	85642627		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7540T>A	4.37:g.85642627A>T	ENSP00000295888:p.Ser2514Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322395	0.41096	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.64438	-0.1;-0.1;-0.07	5.77	3.29	0.37713	.	0.166906	0.56097	D	0.000033	T	0.39759	0.1090	N	0.11427	0.14	0.45899	D	0.998746	B	0.10296	0.003	B	0.09377	0.004	T	0.09818	-1.0657	10	0.15066	T	0.55	.	12.7805	0.57474	0.7212:0.2788:0.0:0.0	.	2514	Q8IZQ1	WDFY3_HUMAN	T	2497;2514;117	ENSP00000318466:S2497T;ENSP00000295888:S2514T;ENSP00000424987:S117T	ENSP00000295888:S2514T	S	-	1	0	WDFY3	85861651	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	3.445000	0.52921	0.506000	0.28125	0.477000	0.44152	TCC		0.473	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		T	85642627	A	T	85642627	3	4	172	1	0	0	0	0	1	0	0	0	17275	304	11	5	3128	5	WDFY3	4	85642627	Missense_Mutation	SNP	A	TCGA-B0-5080-01A-01D-1501-10	17257643	85642627	105511649	18	9955											
SLC45A2	51151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33951772	33951772	+	Missense_Mutation	SNP	C	C	T	rs554113064		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr5:33951772C>T	ENST00000296589.4	-	5	1189	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	SLC45A2_ENST00000382102.3_Missense_Mutation_p.R348H|SLC45A2_ENST00000342059.3_Missense_Mutation_p.R289H|SLC45A2_ENST00000509381.1_Silent_p.P239P|SLC45A2_ENST00000345083.5_Missense_Mutation_p.R240H	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	348			R -> C (in OCA4). {ECO:0000269|PubMed:17768386}.		developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R348H(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGGATCCCCGCGGTACACAAT	0.493																																					Ovarian(31;380 859 8490 22203 49048)											2	Substitution - Missense(2)	endometrium(1)|kidney(1)											143	132	136					5																	33951772		2203	4300	6503	SO:0001583	missense	51151			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1043G>A	5.37:g.33951772C>T	ENSP00000296589:p.Arg348His		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.278395	0.01410	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600;ENST00000345083	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.91	0.645	0.17782	Major facilitator superfamily domain, general substrate transporter (1);	0.558716	0.21419	N	0.074848	T	0.42337	0.1198	N	0.00210	-1.845	0.09310	N	0.999996	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.48364	-0.9042	10	0.18710	T	0.47	0.0115	10.1285	0.42665	0.0:0.2317:0.0:0.7683	.	348;348	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	H	348;289;348;173;240	ENSP00000296589:R348H;ENSP00000341014:R289H;ENSP00000371534:R348H;ENSP00000424010:R173H;ENSP00000340444:R240H	ENSP00000296589:R348H	R	-	2	0	SLC45A2	33987529	0.673000	0.27539	0.022000	0.16811	0.069000	0.16628	0.984000	0.29565	-0.052000	0.13311	-0.290000	0.09829	CGC		0.493	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		T	33951772	C	T	33951772	3	4	172	1	0	0	0	0	1	0	0	0	14647	768	27	1	576	1	SLC45A2	5	33951772	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10		33951772	146963488	19	9956											
IQGAP2	10788	hgsc.bcm.edu;ucsc.edu	37	5	75886315	75886315	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr5:75886315delT	ENST00000274364.6	+	8	1020	c.723delT	c.(721-723)aatfs	p.N241fs	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	241					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAACCCAAATGCGGTTTTAA	0.383																																																0													94	93	93					5																	75886315		2203	4300	6503	SO:0001589	frameshift_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.723delT	5.37:g.75886315delT	ENSP00000274364:p.Asn241fs		A8K4V1|B7Z8A4|J3KR91	Frame_Shift_Del	DEL	ENST00000274364.6	37	CCDS34188.1																																																																																				0.383	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		-	75886315	T	-	75886315	7	5	172	1	0	1	0	1	0	0	0	0	7817	1461	51	0	753	0	IQGAP2	5	75886315	Frame_Shift_Del	DEL	T	TCGA-B0-5080-01A-01D-1501-10	41934543	75886315	105028945	20	9957											
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89986798	89986798	+	Silent	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr5:89986798G>A	ENST00000405460.2	+	31	6987	c.6891G>A	c.(6889-6891)ggG>ggA	p.G2297G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2297	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G2297G(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCCCCTGGGGAAACCATTC	0.493																																																1	Substitution - coding silent(1)	kidney(1)											125	122	123					5																	89986798		1961	4152	6113	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6891G>A	5.37:g.89986798G>A			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281615	0.23392	.	.	ENSG00000164199	ENST00000399043	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.647	0.51267	0.1366:0.0:0.8634:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR98	90022554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.281000	0.51685	2.807000	0.96579	0.591000	0.81541	.		0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89986798	G	A	89986798	2	1	172	1	0	0	0	0	0	0	0	1	6723	1219	43	2		2	GPR98	5	89986798	Silent	SNP	G	TCGA-B0-5080-01A-01D-1501-10	14100483	89986798	90928462	21	9958											
PECI	10455	broad.mit.edu;ucsc.edu	37	6	4117641	4117641	+	Missense_Mutation	SNP	C	C	G	rs527578254		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr6:4117641C>G	ENST00000380118.3	-	9	966	c.930G>C	c.(928-930)gaG>gaC	p.E310D	C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.E280D|ECI2_ENST00000465828.1_Missense_Mutation_p.E280D|ECI2_ENST00000361538.2_Missense_Mutation_p.E280D|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000413766.2_Missense_Mutation_p.E143D			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	310	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)	p.E310D(1)|p.E280D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GAGCACATGCCTCTCCCGCTG	0.413																																																2	Substitution - Missense(2)	kidney(2)											113	118	117					6																	4117641		2203	4300	6503	SO:0001583	missense	0			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.930G>C	6.37:g.4117641C>G	ENSP00000369461:p.Glu310Asp		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377232	0.61735	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	6.16	1.7	0.24286	Crotonase, core (1);	0.194567	0.53938	N	0.000042	T	0.43656	0.1257	M	0.69463	2.115	0.44547	D	0.997506	P	0.46395	0.877	P	0.51324	0.666	T	0.38779	-0.9645	10	0.49607	T	0.09	.	7.9293	0.29893	0.0:0.3551:0.0:0.6449	.	310	O75521	ECI2_HUMAN	D	310;280;143;280;280	ENSP00000369461:E310D;ENSP00000369468:E280D;ENSP00000406969:E143D;ENSP00000354737:E280D;ENSP00000420309:E280D	ENSP00000354737:E280D	E	-	3	2	ECI2	4062640	1.000000	0.71417	0.902000	0.35471	0.768000	0.43524	1.326000	0.33735	0.063000	0.16370	-0.961000	0.02630	GAG		0.413	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		G	4117641	C	G	4117641	3	3	172	1	0	0	0	0	1	0	0	0	11718	680	24	4	262	4	PECI	6	4117641	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10		4117641	166997426	22	9959											
DPCR1	135656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	30919792	30919792	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr6:30919792C>T	ENST00000462446.1	+	2	3579	c.3551C>T	c.(3550-3552)cCa>cTa	p.P1184L	DPCR1_ENST00000304311.2_Missense_Mutation_p.P26L|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	314						integral component of membrane (GO:0016021)		p.P1184L(1)|p.P26L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ACAAGAACCCCAGAAAAGCCT	0.478																																																2	Substitution - Missense(2)	kidney(2)											158	158	158					6																	30919792		2203	4300	6503	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3551C>T	6.37:g.30919792C>T	ENSP00000417182:p.Pro1184Leu		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702319	0.30232	.	.	ENSG00000168631	ENST00000462446;ENST00000304311	T;T	0.24908	1.89;1.83	1.88	0.014	0.14098	.	.	.	.	.	T	0.10121	0.0248	L	0.38175	1.15	0.09310	N	1	D	0.62365	0.991	P	0.50405	0.64	T	0.08911	-1.0699	9	0.66056	D	0.02	.	2.005	0.03475	0.2608:0.3951:0.0:0.344	.	1184	E9PEI6	.	L	1184;26	ENSP00000417182:P1184L;ENSP00000305948:P26L	ENSP00000305948:P26L	P	+	2	0	DPCR1	31027771	0.000000	0.05858	0.002000	0.10522	0.191000	0.23601	-1.243000	0.02905	-0.037000	0.13646	0.448000	0.29417	CCA		0.478	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		T	30919792	C	T	30919792	3	4	172	1	0	0	0	0	1	0	0	0	4714	594	21	2	3557	2	DPCR1	6	30919792	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10	26802151	30919792	140195275	23	9960											
GPR110	266977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46977222	46977222	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr6:46977222G>A	ENST00000371253.2	-	11	2164	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	GPR110_ENST00000283297.5_Missense_Mutation_p.T453M|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	650					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T650M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGGTTCACCGTGGTGTCCAC	0.498																																																1	Substitution - Missense(1)	kidney(1)											113	87	96					6																	46977222		2203	4300	6503	SO:0001583	missense	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1949C>T	6.37:g.46977222G>A	ENSP00000360299:p.Thr650Met		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130063	0.01756	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.43294	0.95;0.95	5.77	0.257	0.15574	GPCR, family 2-like (1);	1.226040	0.05660	N	0.586652	T	0.14570	0.0352	L	0.39898	1.24	0.09310	N	1	B	0.19445	0.036	B	0.19148	0.024	T	0.33701	-0.9858	10	0.49607	T	0.09	0.3966	5.9942	0.19485	0.255:0.0831:0.5708:0.0911	.	650	Q5T601	GP110_HUMAN	M	650;453	ENSP00000360299:T650M;ENSP00000283297:T453M	ENSP00000283297:T453M	T	-	2	0	GPR110	47085181	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.216000	0.09266	-0.091000	0.12440	-0.813000	0.03139	ACG		0.498	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		A	46977222	G	A	46977222	3	1	172	1	0	0	0	0	1	0	0	0	6629	1145	40	1	803	1	GPR110	6	46977222	Missense_Mutation	SNP	G	TCGA-B0-5080-01A-01D-1501-10	16057430	46977222	124137845	24	9961											
GLI3	2737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	42003966	42003966	+	Missense_Mutation	SNP	G	G	C	rs35765130		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr7:42003966G>C	ENST00000395925.3	-	15	4789	c.4705C>G	c.(4705-4707)Cta>Gta	p.L1569V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1569					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L1569V(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTTCCGCTAGGGAGGTCAGC	0.507									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							1	Substitution - Missense(1)	kidney(1)											74	72	73					7																	42003966		2203	4300	6503	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4705C>G	7.37:g.42003966G>C	ENSP00000379258:p.Leu1569Val		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734111	0.89482	.	.	ENSG00000106571	ENST00000395925	T	0.54071	0.59	6.03	6.03	0.97812	.	0.119075	0.64402	D	0.000018	T	0.71813	0.3384	L	0.60067	1.865	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.71563	-0.4555	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1569	P10071	GLI3_HUMAN	V	1569	ENSP00000379258:L1569V	ENSP00000379258:L1569V	L	-	1	2	GLI3	41970491	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	7.955000	0.87856	2.861000	0.98227	0.655000	0.94253	CTA		0.507	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		C	42003966	G	C	42003966	3	2	172	1	0	0	0	0	1	0	0	0	6441	991	35	4	41	4	GLI3	7	42003966	Missense_Mutation	SNP	G	TCGA-B0-5080-01A-01D-1501-10		42003966	117134697	25	9962											
GRB10	2887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	50660657	50660657	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr7:50660657C>T	ENST00000401949.1	-	19	2246	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	GRB10_ENST00000406641.1_Missense_Mutation_p.A535T|GRB10_ENST00000439599.1_Missense_Mutation_p.A587T|GRB10_ENST00000398810.2_Missense_Mutation_p.A535T|GRB10_ENST00000398812.2_Missense_Mutation_p.A593T|GRB10_ENST00000335866.3_Missense_Mutation_p.A535T|GRB10_ENST00000407526.1_Missense_Mutation_p.A535T|GRB10_ENST00000402497.1_Missense_Mutation_p.A535T|GRB10_ENST00000402578.1_Missense_Mutation_p.A535T|GRB10_ENST00000357271.5_Missense_Mutation_p.A547T|GRB10_ENST00000403097.1_Missense_Mutation_p.A587T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	593					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.A587T(1)|p.A593T(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GGTCATAAGGCCACTCGGATG	0.517									Russell-Silver syndrome																																							2	Substitution - Missense(2)	kidney(2)											145	145	145					7																	50660657		2080	4224	6304	SO:0001583	missense	2887	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1777G>A	7.37:g.50660657C>T	ENSP00000385770:p.Ala593Thr		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500135	0.85176	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000398791;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.84730	-1.81;-1.81;-1.89;-1.89;-1.89;-1.81;-1.89;-1.59;-1.89;-1.81;-1.89	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78368	0.4272	N	0.22421	0.69	0.80722	D	1	P;P;P	0.42757	0.789;0.789;0.684	B;B;B	0.37015	0.239;0.239;0.121	T	0.81364	-0.0966	10	0.62326	D	0.03	-27.2829	19.7417	0.96234	0.0:1.0:0.0:0.0	.	587;547;593	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	T	593;587;535;535;535;587;535;547;535;593;125;535	ENSP00000381793:A593T;ENSP00000406716:A587T;ENSP00000338543:A535T;ENSP00000381790:A535T;ENSP00000385189:A535T;ENSP00000385544:A587T;ENSP00000385366:A535T;ENSP00000349818:A547T;ENSP00000385046:A535T;ENSP00000385770:A593T;ENSP00000385748:A535T	ENSP00000338543:A535T	A	-	1	0	GRB10	50628151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.661000	0.90470	0.655000	0.94253	GCC		0.517	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			T	50660657	C	T	50660657	3	4	172	1	0	0	0	0	1	0	0	0	6758	739	26	2	11	2	GRB10	7	50660657	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10	8656691	50660657	108478006	26	9963											
LUC7L2	100996928	broad.mit.edu;ucsc.edu	37	7	139097305	139097305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr7:139097305C>A	ENST00000354926.4	+	8	1142	c.788C>A	c.(787-789)tCa>tAa	p.S263*	C7orf55-LUC7L2_ENST00000541170.3_Nonsense_Mutation_p.S260*|LUC7L2_ENST00000541515.3_Nonsense_Mutation_p.S329*|C7orf55-LUC7L2_ENST00000263545.6_Nonsense_Mutation_p.S262*	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough									p.S263*(1)									AGGTCCCGATCACACAGCAAG	0.289																																																1	Substitution - Nonsense(1)	kidney(1)											119	117	118					7																	139097305		1807	4070	5877	SO:0001587	stop_gained	51631				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.788C>A	7.37:g.139097305C>A	ENSP00000347005:p.Ser263*			Nonsense_Mutation	SNP	ENST00000354926.4	37	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	C	38	6.641839	0.97726	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	.	.	.	5.49	5.49	0.81192	.	0.497073	0.19283	N	0.118110	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-4.891	17.5705	0.87933	0.0:1.0:0.0:0.0	.	.	.	.	X	260;329;263;263;262	.	ENSP00000263545:S262X	S	+	2	0	LUC7L2	138747845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.281000	0.65609	2.583000	0.87209	0.650000	0.86243	TCA		0.289	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			A	139097305	C	A	139097305	4	1	172	1	0	0	0	0	0	1	0	0	9085	838	29	4	818	4	LUC7L2	7	139097305	Nonsense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10	88436648	139097305	20041358	27	9964											
KIF13B	23303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	29018273	29018273	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr8:29018273C>T	ENST00000524189.1	-	13	1419	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	KIF13B_ENST00000521515.1_Missense_Mutation_p.E461K	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	461					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.E461K(2)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACCAGAAGCTCATTCAGAGCT	0.388																																																2	Substitution - Missense(2)	kidney(2)											84	80	82					8																	29018273		1862	4102	5964	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1381G>A	8.37:g.29018273C>T	ENSP00000427900:p.Glu461Lys		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046878	0.75846	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.80824	-1.42;-1.23	5.0	5.0	0.66597	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.91928	0.7444	M	0.91612	3.225	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.995	D;D;D	0.79784	0.98;0.993;0.981	D	0.93539	0.6876	10	0.87932	D	0	.	18.4925	0.90853	0.0:1.0:0.0:0.0	.	447;461;461	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	K	461	ENSP00000427900:E461K;ENSP00000429201:E461K	ENSP00000429201:E461K	E	-	1	0	KIF13B	29074192	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	7.593000	0.82686	2.607000	0.88179	0.655000	0.94253	GAG		0.388	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			T	29018273	C	T	29018273	3	4	172	1	0	0	0	0	1	0	0	0	8277	835	29	2	4211	2	KIF13B	8	29018273	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10		29018273	117345749	28	9965											
PCDH15	65217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	55663098	55663099	+	Missense_Mutation	DNP	CC	CC	AA	rs202206172		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr10:55663098_55663099CC>AA	ENST00000320301.6	-	26	3799_3800	c.3405_3406GG>TT	c.(3403-3408)caGGat>caTTat	p.1135_1136QD>HY	PCDH15_ENST00000395445.1_Missense_Mutation_p.1142_1143QD>HY|PCDH15_ENST00000373965.2_Missense_Mutation_p.1142_1143QD>HY|PCDH15_ENST00000395438.1_Missense_Mutation_p.1135_1136QD>HY|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.1113_1114QD>HY|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.1135_1136QD>HY|PCDH15_ENST00000409834.1_Missense_Mutation_p.746_747QD>HY|PCDH15_ENST00000395430.1_Missense_Mutation_p.1135_1136QD>HY|PCDH15_ENST00000414778.1_Missense_Mutation_p.1140_1141QD>HY|PCDH15_ENST00000395432.2_Missense_Mutation_p.1098_1099QD>HY|PCDH15_ENST00000437009.1_Missense_Mutation_p.1064_1065QD>HY|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1135	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.Q1140H(2)|p.D1136Y(2)|p.D1141Y(2)|p.Q1135H(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTATTTTCATCCTGAATCTCAA	0.371										HNSCC(58;0.16)																																						8	Substitution - Missense(8)	kidney(8)																																								SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3405_3406delinsAA	10.37:g.55663098_55663099delinsAA	ENSP00000322604:p.Q1135_D1136delinsHY		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.371	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		AA	55663099	CC	AA	55663098	3	1	172	1	0	0	0	0	1	0	0	0	11513	855	30	4	4112	4	PCDH15	10	55663098	Missense_Mutation	DNP	CC	TCGA-B0-5080-01A-01D-1501-10		55663098	79871649	29	9966											
SLC29A3	55315	broad.mit.edu	37	10	73121852	73121852	+	Silent	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr10:73121852G>A	ENST00000373189.5	+	6	967	c.915G>A	c.(913-915)acG>acA	p.T305T	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	305					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)	p.T305T(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGAAGAAGACGGCCAGCCTGG	0.592																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)											1	Substitution - coding silent(1)	kidney(1)											120	126	124					10																	73121852		2203	4300	6503	SO:0001819	synonymous_variant	55315			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.915G>A	10.37:g.73121852G>A			B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Silent	SNP	ENST00000373189.5	37	CCDS7310.1																																																																																				0.592	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		A	73121852	G	A	73121852	2	1	172	1	0	0	0	0	0	0	0	1	14542	1103	39	1		1	SLC29A3	10	73121852	Silent	SNP	G	TCGA-B0-5080-01A-01D-1501-10	17458754	73121852	62412895	30	9967											
RRP12	23223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99156039	99156040	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr10:99156039_99156040GC>TT	ENST00000370992.4	-	3	499_500	c.388_389GC>AA	c.(388-390)GCt>AAt	p.A130N	RRP12_ENST00000414986.1_Missense_Mutation_p.A130N|RRP12_ENST00000315563.6_Missense_Mutation_p.A130N	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	130						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.A130D(1)|p.A130T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTCAGTGACAGCAGCCAGAACA	0.569																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.388_389delinsTT	10.37:g.99156039_99156040delinsTT	ENSP00000360031:p.Ala130Asn		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																				0.569	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		TT	99156040	GC	TT	99156039	3	4	172	1	0	0	0	0	1	0	0	0	13692	971	34	4	3632	4	RRP12	10	99156039	Missense_Mutation	DNP	GC	TCGA-B0-5080-01A-01D-1501-10	26034187	99156039	36378708	31	9968											
CCDC73	493860	broad.mit.edu;ucsc.edu	37	11	32697453	32697453	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr11:32697453G>T	ENST00000335185.5	-	8	587	c.544C>A	c.(544-546)Cat>Aat	p.H182N	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	182								p.H182N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AACTTTTCATGATTCTCTTTT	0.289																																																1	Substitution - Missense(1)	kidney(1)											159	149	152					11																	32697453		1818	4070	5888	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.544C>A	11.37:g.32697453G>T	ENSP00000335325:p.His182Asn		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248443	0.80024	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	T	0.76543	0.4002	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.74023	0.797;0.982	T	0.69953	-0.5005	8	0.25751	T	0.34	.	20.2508	0.98407	0.0:0.0:1.0:0.0	.	182;182	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	N	182	.	ENSP00000335325:H182N	H	-	1	0	CCDC73	32654029	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.157000	0.77461	2.788000	0.95919	0.585000	0.79938	CAT		0.289	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		T	32697453	G	T	32697453	3	4	172	1	0	0	0	0	1	0	0	0	2848	1290	45	4	2739	4	CCDC73	11	32697453	Missense_Mutation	SNP	G	TCGA-B0-5080-01A-01D-1501-10		32697453	102309063	32	9969											
SYT12	91683	broad.mit.edu;hgsc.bcm.edu	37	11	66813240	66813240	+	Silent	SNP	G	G	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr11:66813240G>T	ENST00000393946.2	+	10	2146	c.984G>T	c.(982-984)ctG>ctT	p.L328L	SYT12_ENST00000527043.1_Silent_p.L328L|SYT12_ENST00000525457.1_Silent_p.L328L			Q8IV01	SYT12_HUMAN	synaptotagmin XII	328	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.L328L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TGTACCTGCTGCAGGATGGGA	0.587																																					Ovarian(65;2862 3307)											1	Substitution - coding silent(1)	kidney(1)											83	68	73					11																	66813240		2200	4295	6495	SO:0001819	synonymous_variant	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.984G>T	11.37:g.66813240G>T				Silent	SNP	ENST00000393946.2	37	CCDS8154.1																																																																																				0.587	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		T	66813240	G	T	66813240	2	4	172	1	0	0	0	0	0	0	0	1	15473	1306	46	4		4	SYT12	11	66813240	Silent	SNP	G	TCGA-B0-5080-01A-01D-1501-10	34115787	66813240	68193276	33	9970											
ACSM4	341392	hgsc.bcm.edu;ucsc.edu	37	12	7459281	7459281	+	Silent	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr12:7459281C>A	ENST00000399422.4	+	2	402	c.354C>A	c.(352-354)gcC>gcA	p.A118A		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	118					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACCGTTTGGCCGTGATTCTGC	0.512																																																0													75	84	81					12																	7459281		2086	4248	6334	SO:0001819	synonymous_variant	341392				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.354C>A	12.37:g.7459281C>A			A8MTI6	Silent	SNP	ENST00000399422.4	37	CCDS44825.1																																																																																				0.512	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		A	7459281	C	A	7459281	2	1	172	1	0	0	0	0	0	0	0	1	186	639	23	4		4	ACSM4	12	7459281	Silent	SNP	C	TCGA-B0-5080-01A-01D-1501-10		7459281	126392614	34	9971											
IRAK4	51135	broad.mit.edu	37	12	44176279	44176279	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr12:44176279T>C	ENST00000448290.2	+	9	1182	c.1111T>C	c.(1111-1113)Tac>Cac	p.Y371H	IRAK4_ENST00000440781.2_Missense_Mutation_p.Y247H|IRAK4_ENST00000431837.1_Missense_Mutation_p.Y247H|IRAK4_ENST00000551736.1_Missense_Mutation_p.Y371H	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Y371H(1)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATCTGATATTTACAGCTTTGG	0.348																																																1	Substitution - Missense(1)	kidney(1)											62	61	61					12																	44176279		2203	4300	6503	SO:0001583	missense	51135			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1111T>C	12.37:g.44176279T>C	ENSP00000390651:p.Tyr371His		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.599948	0.87055	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064391	0.64402	D	0.000007	D	0.97955	0.9327	M	0.89478	3.035	0.53005	D	0.999962	D	0.63880	0.993	D	0.72338	0.977	D	0.98928	1.0786	10	0.87932	D	0	-12.1557	15.8229	0.78673	0.0:0.0:0.0:1.0	.	371	Q9NWZ3	IRAK4_HUMAN	H	247;247;371;371	ENSP00000408734:Y247H;ENSP00000390327:Y247H;ENSP00000390651:Y371H;ENSP00000446490:Y371H	ENSP00000390327:Y247H	Y	+	1	0	IRAK4	42462546	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.130000	0.65690	0.477000	0.44152	TAC		0.348	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			C	44176279	T	C	44176279	3	2	172	1	0	0	0	0	1	0	0	0	7827	1754	61	3	1141	3	IRAK4	12	44176279	Missense_Mutation	SNP	T	TCGA-B0-5080-01A-01D-1501-10	36716998	44176279	89675616	35	9972											
USP15	9958	broad.mit.edu;hgsc.bcm.edu	37	12	62798002	62798002	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr12:62798002G>C	ENST00000280377.5	+	22	2851	c.2793G>C	c.(2791-2793)caG>caC	p.Q931H	USP15_ENST00000353364.3_Missense_Mutation_p.Q902H|USP15_ENST00000393654.3_Missense_Mutation_p.Q906H	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	931	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q902H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCTTCTACCAGAGACAAGACA	0.378																																					Melanoma(181;615 2041 39364 49691 50001)											1	Substitution - Missense(1)	kidney(1)											147	146	147					12																	62798002		2203	4300	6503	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2793G>C	12.37:g.62798002G>C	ENSP00000280377:p.Gln931His		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345333	0.41498	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.32515	4.01;4.01;1.45	5.51	5.51	0.81932	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	L	0.36672	1.1	0.54753	D	0.999989	D;D	0.89917	1.0;0.998	D;D	0.78314	0.991;0.957	T	0.12293	-1.0553	9	.	.	.	-5.0639	12.7199	0.57136	0.0751:0.0:0.9249:0.0	.	931;902	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	H	902;931;906	ENSP00000258123:Q902H;ENSP00000280377:Q931H;ENSP00000377264:Q906H	.	Q	+	3	2	USP15	61084269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.709000	0.74665	2.589000	0.87451	0.650000	0.86243	CAG		0.378	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		C	62798002	G	C	62798002	3	2	172	1	0	0	0	0	1	0	0	0	17051	933	33	4	2788	4	USP15	12	62798002	Missense_Mutation	SNP	G	TCGA-B0-5080-01A-01D-1501-10	18621723	62798002	71053893	36	9973											
USP8	9101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50791105	50791105	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr15:50791105C>G	ENST00000396444.3	+	20	3515	c.3177C>G	c.(3175-3177)caC>caG	p.H1059Q	RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000307179.4_Missense_Mutation_p.H1059Q|USP8_ENST00000433963.1_Missense_Mutation_p.H1059Q|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.H953Q|USP50_ENST00000530218.1_5'Flank	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1059	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.H1059Q(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CACAGAATCACTACGGTGGGC	0.358																																																1	Substitution - Missense(1)	kidney(1)											75	75	75					15																	50791105		2196	4294	6490	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.3177C>G	15.37:g.50791105C>G	ENSP00000379721:p.His1059Gln		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405166	0.62288	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.64	3.77	0.43336	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88413	0.3023	10	0.87932	D	0	-12.8234	9.1177	0.36769	0.0:0.7236:0.0:0.2764	.	953;1059	B4DKA8;P40818	.;UBP8_HUMAN	Q	1059;1059;1059;953;277;272	ENSP00000379721:H1059Q;ENSP00000405537:H1059Q;ENSP00000302239:H1059Q;ENSP00000412682:H953Q	ENSP00000302239:H1059Q	H	+	3	2	USP8	48578397	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.718000	0.38001	0.859000	0.35456	0.591000	0.81541	CAC		0.358	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		G	50791105	C	G	50791105	3	3	172	1	0	0	0	0	1	0	0	0	17094	564	20	4	3251	4	USP8	15	50791105	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10		50791105	51740287	37	9974											
ADAMTSL3	57188	hgsc.bcm.edu	37	15	84705613	84705614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr15:84705613_84705614insG	ENST00000286744.5	+	29	5067_5068	c.4843_4844insG	c.(4843-4845)aggfs	p.R1615fs	ADAMTSL3_ENST00000567476.1_Frame_Shift_Ins_p.R1615fs	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1615	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCCTGTGGCAGGGGTTTCCAG	0.52																																																0																																										SO:0001589	frameshift_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4847dupG	15.37:g.84705617_84705617dupG	ENSP00000286744:p.Arg1615fs		A1A566|A1A567|Q9ULI7	Frame_Shift_Ins	INS	ENST00000286744.5	37	CCDS10326.1																																																																																				0.52	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		G	84705614	-	G	84705613	7	5	172	1	0	1	1	0	0	0	0	0	276	179	7	0	4953	0	ADAMTSL3	15	84705613	Frame_Shift_Ins	INS	-	TCGA-B0-5080-01A-01D-1501-10	33914508	84705613	17825779	38	9975											
CDH5	1003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66430033	66430033	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr16:66430033A>T	ENST00000341529.3	+	8	1437	c.1289A>T	c.(1288-1290)gAg>gTg	p.E430V	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.E430V(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ATTTACAATGAGAAAGAACTG	0.522																																																1	Substitution - Missense(1)	kidney(1)											96	91	93					16																	66430033		2201	4300	6501	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1289A>T	16.37:g.66430033A>T	ENSP00000344115:p.Glu430Val		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	8.304	0.820479	0.16678	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.48836	0.8	4.96	3.81	0.43845	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26846	0.0657	N	0.12611	0.24	0.19300	N	0.99998	B	0.09022	0.002	B	0.12837	0.008	T	0.05886	-1.0858	9	0.39692	T	0.17	.	4.8264	0.13417	0.5623:0.1522:0.0:0.2855	.	430	P33151	CADH5_HUMAN	V	430;171	ENSP00000344115:E430V	ENSP00000344115:E430V	E	+	2	0	CDH5	64987534	0.009000	0.17119	1.000000	0.80357	0.806000	0.45545	1.309000	0.33539	2.094000	0.63399	0.459000	0.35465	GAG		0.522	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		T	66430033	A	T	66430033	3	4	172	1	0	0	0	0	1	0	0	0	3115	304	11	5	1315	5	CDH5	16	66430033	Missense_Mutation	SNP	A	TCGA-B0-5080-01A-01D-1501-10		66430033	23924720	39	9976											
PIRT	644139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10728777	10728777	+	Silent	SNP	G	G	A	rs555559126		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr17:10728777G>A	ENST00000580256.2	-	2	824	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	62						integral component of membrane (GO:0016021)		p.G62G(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GGATGGCACCGCCCACTGACA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19700	0.001		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											72	75	74					17																	10728777		2107	4215	6322	SO:0001819	synonymous_variant	644139			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"phosphoinositide-interacting regulator of TRPV1"	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.186C>T	17.37:g.10728777G>A			B7Z648	Silent	SNP	ENST00000580256.2	37	CCDS45614.1																																																																																				0.567	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2	NM_001101387		A	10728777	G	A	10728777	2	1	172	1	0	0	0	0	0	0	0	1	11947	1074	38	1		1	PIRT	17	10728777	Silent	SNP	G	TCGA-B0-5080-01A-01D-1501-10		10728777	70466433	40	9977											
ULK2	9706	broad.mit.edu;ucsc.edu	37	17	19705159	19705159	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr17:19705159C>T	ENST00000395544.4	-	16	1871	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Missense_Mutation_p.D458N	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	458					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D458N(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGTGCTGTGTCTGCTGGTACT	0.498																																																1	Substitution - Missense(1)	kidney(1)											185	184	184					17																	19705159		2203	4300	6503	SO:0001583	missense	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1372G>A	17.37:g.19705159C>T	ENSP00000378914:p.Asp458Asn		A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419721	0.83559	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.40476	1.03;1.03	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	L	0.60455	1.87	0.58432	D	0.999992	B	0.21606	0.058	B	0.14578	0.011	T	0.19095	-1.0316	10	0.34782	T	0.22	-19.4268	19.0427	0.93008	0.0:1.0:0.0:0.0	.	458	Q8IYT8	ULK2_HUMAN	N	458	ENSP00000354877:D458N;ENSP00000378914:D458N	ENSP00000354877:D458N	D	-	1	0	ULK2	19645751	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.261000	0.78400	2.748000	0.94277	0.655000	0.94253	GAC		0.498	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		T	19705159	C	T	19705159	3	4	172	1	0	0	0	0	1	0	0	0	16981	913	32	2	1786	2	ULK2	17	19705159	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10	8976382	19705159	61490051	41	9978											
TADA2A	6871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35804809	35804809	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr17:35804809T>G	ENST00000394395.2	+	8	716	c.543T>G	c.(541-543)aaT>aaG	p.N181K	TADA2A_ENST00000225396.6_Missense_Mutation_p.N181K|TADA2A_ENST00000586023.1_Missense_Mutation_p.N181K|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000417170.1_Missense_Mutation_p.N181K	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	181					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.N181K(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						AATTTGACAATTATGCAGAAT	0.388																																																2	Substitution - Missense(2)	kidney(2)											216	208	211					17																	35804809		2203	4300	6503	SO:0001583	missense	6871			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.543T>G	17.37:g.35804809T>G	ENSP00000377918:p.Asn181Lys		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900610	0.72754	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396;ENST00000417170	T;T;T	0.48201	0.82;0.82;0.82	5.93	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.90483	3.12	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.986	T	0.73164	-0.4069	10	0.66056	D	0.02	-25.5788	8.6674	0.34130	0.0:0.2826:0.0:0.7174	.	181;181	O75478-2;O75478	.;TAD2A_HUMAN	K	181;80;181;181	ENSP00000377918:N181K;ENSP00000225396:N181K;ENSP00000406699:N181K	ENSP00000225396:N181K	N	+	3	2	TADA2A	32878922	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.707000	0.37888	1.074000	0.40909	0.533000	0.62120	AAT		0.388	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		G	35804809	T	G	35804809	3	3	172	1	0	0	0	0	1	0	0	0	15515	1490	52	5	569	5	TADA2A	17	35804809	Missense_Mutation	SNP	T	TCGA-B0-5080-01A-01D-1501-10	16099650	35804809	45390401	42	9979											
SAMD14	201191	broad.mit.edu	37	17	48191586	48191586	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr17:48191586A>G	ENST00000330175.4	-	8	1224	c.907T>C	c.(907-909)Tac>Cac	p.Y303H	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Missense_Mutation_p.Y331H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	303								p.Y331H(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TGGTAGGGGTAAGAACATTTG	0.592																																																1	Substitution - Missense(1)	kidney(1)											69	67	68					17																	48191586		2203	4300	6503	SO:0001583	missense	201191				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.907T>C	17.37:g.48191586A>G	ENSP00000329144:p.Tyr303His		A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.482585	0.63962	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.24	5.24	0.73138	.	0.101878	0.39687	N	0.001292	T	0.54951	0.1890	L	0.44542	1.39	0.35109	D	0.765997	B;D	0.59767	0.004;0.986	B;P	0.54100	0.006;0.742	T	0.62676	-0.6804	9	0.26408	T	0.33	-12.5569	12.6764	0.56897	1.0:0.0:0.0:0.0	.	303;331	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	H	303;315;331	.	ENSP00000285206:Y315H	Y	-	1	0	SAMD14	45546585	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.733000	0.47360	1.983000	0.57843	0.459000	0.35465	TAC		0.592	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		G	48191586	A	G	48191586	3	3	172	1	0	0	0	0	1	0	0	0	13825	362	13	3	358	3	SAMD14	17	48191586	Missense_Mutation	SNP	A	TCGA-B0-5080-01A-01D-1501-10	12386777	48191586	33003624	43	9980											
KIF19	124602	broad.mit.edu	37	17	72342609	72342609	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr17:72342609G>T	ENST00000389916.4	+	8	1008	c.870G>T	c.(868-870)aaG>aaT	p.K290N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	290	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.K290N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGAGCGACAAGGGTAGCAACA	0.612																																																1	Substitution - Missense(1)	kidney(1)											83	50	61					17																	72342609		2163	4225	6388	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.870G>T	17.37:g.72342609G>T	ENSP00000374566:p.Lys290Asn		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	8.972	0.973142	0.18736	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.72282	-0.64;-0.64	5.8	2.74	0.32292	Kinesin, motor domain (3);	.	.	.	.	T	0.63307	0.2500	L	0.46741	1.465	0.09310	N	0.999999	B;B;B;B	0.21520	0.057;0.023;0.004;0.004	B;B;B;B	0.25506	0.042;0.061;0.008;0.021	T	0.56926	-0.7898	9	0.54805	T	0.06	.	9.1064	0.36701	0.2827:0.0:0.7173:0.0	.	290;248;248;290	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	N	248;290	ENSP00000449134:K248N;ENSP00000374566:K290N	ENSP00000374566:K290N	K	+	3	2	KIF19	69854204	0.992000	0.36948	0.113000	0.21522	0.018000	0.09664	0.859000	0.27858	0.813000	0.34350	-0.264000	0.10439	AAG		0.612	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		T	72342609	G	T	72342609	3	4	172	1	0	0	0	0	1	0	0	0	8284	991	35	4	900	4	KIF19	17	72342609	Missense_Mutation	SNP	G	TCGA-B0-5080-01A-01D-1501-10	24151023	72342609	8852601	44	9981											
PTBP1	5725	hgsc.bcm.edu	37	19	808433	808433	+	Silent	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:808433C>T	ENST00000349038.4	+	11	1222	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	PTBP1_ENST00000394601.4_Silent_p.D402D|PTBP1_ENST00000350092.4_Silent_p.D49D|PTBP1_ENST00000356948.6_Silent_p.D409D	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	383	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGGCGGACGGCAACCAGG	0.682																																																0													22	20	21					19																	808433		2194	4296	6490	SO:0001819	synonymous_variant	5725			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1149C>T	19.37:g.808433C>T			Q9BUQ0	Silent	SNP	ENST00000349038.4	37	CCDS32859.1																																																																																				0.682	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			T	808433	C	T	808433	2	4	172	1	0	0	0	0	0	0	0	1	12730	535	19	1		1	PTBP1	19	808433	Silent	SNP	C	TCGA-B0-5080-01A-01D-1501-10		808433	58320550	45	9982											
STX10	8677	broad.mit.edu	37	19	13260325	13260325	+	Silent	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:13260325T>C	ENST00000587230.1	-	3	352	c.288A>G	c.(286-288)cgA>cgG	p.R96R	IER2_ENST00000587885.1_5'Flank|IER2_ENST00000588173.1_5'Flank|STX10_ENST00000242770.5_Silent_p.R96R|STX10_ENST00000343587.5_Intron|STX10_ENST00000589083.1_Silent_p.R96R|IER2_ENST00000292433.3_5'Flank	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	96					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.R96R(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GGACTGCCTCTCGCATCCGCT	0.507																																																1	Substitution - coding silent(1)	kidney(1)											70	73	72					19																	13260325		2203	4300	6503	SO:0001819	synonymous_variant	8677			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.288A>G	19.37:g.13260325T>C			A6NC41|Q6IAP4|Q96AE8	Silent	SNP	ENST00000587230.1	37	CCDS32922.1																																																																																				0.507	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		C	13260325	T	C	13260325	2	2	172	1	0	0	0	0	0	0	0	1	15341	1538	54	3		3	STX10	19	13260325	Silent	SNP	T	TCGA-B0-5080-01A-01D-1501-10	12451892	13260325	45868658	46	9983											
PDE4C	5143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18328978	18328978	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:18328978G>T	ENST00000355502.3	-	15	2182	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	PDE4C_ENST00000594465.3_Missense_Mutation_p.N437K|PDE4C_ENST00000594617.3_Missense_Mutation_p.N437K|PDE4C_ENST00000598111.2_Missense_Mutation_p.N152K|PDE4C_ENST00000447275.3_Missense_Mutation_p.N331K|PDE4C_ENST00000539010.1_Missense_Mutation_p.N206K|PDE4C_ENST00000597297.1_Missense_Mutation_p.N207K|PDE4C_ENST00000262805.12_Missense_Mutation_p.N405K|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	437					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.N437K(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCAGAAACTGGTTGGAGACCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											108	105	106					19																	18328978		2203	4300	6503	SO:0001583	missense	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1311C>A	19.37:g.18328978G>T	ENSP00000347689:p.Asn437Lys		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087972	0.55968	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	4.61	2.43	0.29744	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.051327	0.85682	D	0.000000	D	0.96122	0.8736	H	0.99249	4.485	0.38680	D	0.952515	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.932;0.984;0.994;0.999	D	0.93821	0.7119	10	0.87932	D	0	.	6.3833	0.21546	0.3261:0.0:0.6739:0.0	.	437;405;243;152	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	K	516;437;425;405;331;243;151;206;546	ENSP00000347689:N437K;ENSP00000262805:N405K;ENSP00000402091:N331K;ENSP00000439470:N206K	ENSP00000262805:N405K	N	-	3	2	PDE4C	18189978	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	0.834000	0.27518	0.358000	0.24211	0.313000	0.20887	AAC		0.577	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			T	18328978	G	T	18328978	3	4	172	1	0	0	0	0	1	0	0	0	11643	1252	44	4	847	4	PDE4C	19	18328978	Missense_Mutation	SNP	G	TCGA-B0-5080-01A-01D-1501-10	5068653	18328978	40800005	47	9984											
ZNF792	126375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35449369	35449369	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:35449369C>T	ENST00000404801.1	-	4	1776	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	ZNF792_ENST00000605484.1_Missense_Mutation_p.D397N	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D464N(1)|p.D385N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCATGAGGTCAGAGCTTCGG	0.522																																					GBM(1;7 183 21053 22581 22847)											2	Substitution - Missense(2)	kidney(2)											125	121	123					19																	35449369		2203	4300	6503	SO:0001583	missense	126375			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1390G>A	19.37:g.35449369C>T	ENSP00000385099:p.Asp464Asn		B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	6.772	0.511366	0.12944	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.07567	3.18	2.83	-2.75	0.05914	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.04162	-0.26	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46857	-0.9161	9	0.13470	T	0.59	.	3.8457	0.08934	0.168:0.4184:0.0:0.4136	.	464	Q3KQV3	ZN792_HUMAN	N	464;224	ENSP00000385099:D464N	ENSP00000368487:D224N	D	-	1	0	ZNF792	40141209	0.000000	0.05858	0.000000	0.03702	0.950000	0.60333	-2.450000	0.01007	-0.531000	0.06340	0.563000	0.77884	GAC		0.522	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		T	35449369	C	T	35449369	3	4	172	1	0	0	0	0	1	0	0	0	18169	826	29	2	512	2	ZNF792	19	35449369	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10	17120391	35449369	23679614	48	9985											
HNRNPUL1	11100	broad.mit.edu;ucsc.edu	37	19	41811645	41811645	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:41811645C>G	ENST00000392006.3	+	14	2500	c.2327C>G	c.(2326-2328)cCt>cGt	p.P776R	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P687R|HNRNPUL1_ENST00000602130.1_Intron|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P676R|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P686R|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P676R|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P672R	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	776	Necessary for interaction with TP53.|Pro-rich.|Tyr-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P776R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCCCACCGCCTCCACCTCCA	0.612																																																1	Substitution - Missense(1)	kidney(1)											93	91	92					19																	41811645		2203	4300	6503	SO:0001583	missense	11100			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.2327C>G	19.37:g.41811645C>G	ENSP00000375863:p.Pro776Arg		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716025	0.48622	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	D;T;D	0.93307	-3.2;1.51;-3.2	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000014	D	0.91549	0.7331	N	0.14661	0.345	0.34026	D	0.653227	P;D;D;D;D;P	0.61697	0.841;0.99;0.982;0.98;0.965;0.901	B;P;P;P;B;B	0.61592	0.079;0.891;0.55;0.6;0.396;0.164	D	0.91893	0.5525	10	0.25106	T	0.35	-5.398	14.6599	0.68861	0.0:1.0:0.0:0.0	.	676;310;776;672;776;676	A8K3W4;Q9BUJ2-5;A8K5K0;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	R	676;776;672;687	ENSP00000375863:P776R;ENSP00000367460:P672R;ENSP00000263367:P687R	ENSP00000263367:P687R	P	+	2	0	HNRNPUL1	46503485	0.988000	0.35896	1.000000	0.80357	0.965000	0.64279	2.537000	0.45702	2.446000	0.82766	0.485000	0.47835	CCT		0.612	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		G	41811645	C	G	41811645	3	3	172	1	0	0	0	0	1	0	0	0	7276	681	24	4	2381	4	HNRNPUL1	19	41811645	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10	6362276	41811645	17317338	49	9986											
POLD1	5424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50906786	50906786	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:50906786G>A	ENST00000440232.2	+	10	1227	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	POLD1_ENST00000599857.1_Missense_Mutation_p.V392M|POLD1_ENST00000595904.1_Missense_Mutation_p.V392M	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	392					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.V392M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGACCCCGACGTGATCACCGG	0.607								DNA polymerases (catalytic subunits)																																								2	Substitution - Missense(2)	kidney(2)											251	214	226					19																	50906786		2203	4300	6503	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1174G>A	19.37:g.50906786G>A	ENSP00000406046:p.Val392Met		Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166628	0.57476	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.13089	2.62	3.84	2.8	0.32819	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.149824	0.44902	N	0.000413	T	0.21307	0.0513	L	0.60904	1.88	0.36617	D	0.87551	P;P	0.51537	0.946;0.946	P;P	0.54924	0.764;0.679	T	0.08911	-1.0699	10	0.66056	D	0.02	-27.567	5.6532	0.17629	0.3261:0.0:0.6739:0.0	.	392;392	E7EVW0;P28340	.;DPOD1_HUMAN	M	392;393	ENSP00000406046:V392M	ENSP00000366129:V393M	V	+	1	0	POLD1	55598598	1.000000	0.71417	0.701000	0.30321	0.655000	0.38815	4.235000	0.58666	0.948000	0.37687	0.561000	0.74099	GTG		0.607	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			A	50906786	G	A	50906786	3	1	172	1	0	0	0	0	1	0	0	0	12192	1145	40	1	1208	1	POLD1	19	50906786	Missense_Mutation	SNP	G	TCGA-B0-5080-01A-01D-1501-10	9095141	50906786	8222197	50	9987											
MYBPC2	4606	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50939919	50939919	+	Missense_Mutation	SNP	C	C	T	rs375154247		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:50939919C>T	ENST00000357701.5	+	5	442	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	131	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R131C(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACTGGGGGACCGTGGGTATTA	0.622																																																1	Substitution - Missense(1)	kidney(1)						C	CYS/ARG	2,4068		0,2,2033	104	102	103		391	2.2	1	19		103	0,8324		0,0,4162	no	missense	MYBPC2	NM_004533.3	180	0,2,6195	TT,TC,CC		0.0,0.0491,0.0161	probably-damaging	131/1142	50939919	2,12392	2035	4162	6197	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.391C>T	19.37:g.50939919C>T	ENSP00000350332:p.Arg131Cys		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	14.56	2.572297	0.45798	4.91E-4	0.0	ENSG00000086967	ENST00000357701	T	0.67698	-0.28	3.24	2.15	0.27550	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.480353	0.14618	U	0.308594	T	0.67230	0.2871	L	0.54323	1.7	0.37096	D	0.899668	P	0.51351	0.944	P	0.50617	0.646	T	0.71712	-0.4510	10	0.72032	D	0.01	.	8.8556	0.35225	0.5483:0.4517:0.0:0.0	.	131	Q14324	MYPC2_HUMAN	C	131	ENSP00000350332:R131C	ENSP00000350332:R131C	R	+	1	0	MYBPC2	55631731	0.996000	0.38824	0.986000	0.45419	0.535000	0.34838	1.338000	0.33873	0.911000	0.36747	0.450000	0.29827	CGT		0.622	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		T	50939919	C	T	50939919	3	4	172	1	0	0	0	0	1	0	0	0	10014	652	23	1	409	1	MYBPC2	19	50939919	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10	33133	50939919	8189064	51	9988											
SIGLEC8	27181	broad.mit.edu;hgsc.bcm.edu	37	19	51958703	51958703	+	Silent	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:51958703G>A	ENST00000321424.3	-	4	1086	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Silent_p.S231S|SIGLEC8_ENST00000340550.5_Silent_p.S247S	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	340	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S340S(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAGGCTCAGGGAAATGTGCT	0.632																																																1	Substitution - coding silent(1)	kidney(1)											52	50	51					19																	51958703		2203	4300	6503	SO:0001819	synonymous_variant	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1020C>T	19.37:g.51958703G>A			Q7Z728	Silent	SNP	ENST00000321424.3	37	CCDS33086.1																																																																																				0.632	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		A	51958703	G	A	51958703	2	1	172	1	0	0	0	0	0	0	0	1	14320	1219	43	2		2	SIGLEC8	19	51958703	Silent	SNP	G	TCGA-B0-5080-01A-01D-1501-10	1018784	51958703	7170280	52	9989											
VN1R2	317701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53762336	53762336	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:53762336C>A	ENST00000341702.3	+	1	792	c.708C>A	c.(706-708)agC>agA	p.S236R		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	236					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.S236R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GCAAATGGAGCAACAACAACA	0.423																																																1	Substitution - Missense(1)	kidney(1)											85	80	82					19																	53762336		2203	4300	6503	SO:0001583	missense	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.708C>A	19.37:g.53762336C>A	ENSP00000351244:p.Ser236Arg		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	C	6.929	0.541113	0.13250	.	.	ENSG00000196131	ENST00000341702	T	0.09817	2.94	2.94	-0.606	0.11619	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09024	0.0223	L	0.49126	1.545	0.09310	N	1	B	0.23442	0.085	B	0.26094	0.066	T	0.38779	-0.9645	9	0.45353	T	0.12	.	1.6757	0.02821	0.3662:0.3412:0.1793:0.1132	.	236	Q8NFZ6	VN1R2_HUMAN	R	236	ENSP00000351244:S236R	ENSP00000351244:S236R	S	+	3	2	VN1R2	58454148	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.660000	0.01974	-0.000000	0.14550	0.596000	0.82720	AGC		0.423	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		A	53762336	C	A	53762336	3	1	172	1	0	0	0	0	1	0	0	0	17184	709	25	4	710	4	VN1R2	19	53762336	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10	1803633	53762336	5366647	53	9990											
TMEM50B	757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34841149	34841149	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr21:34841149C>T	ENST00000542230.2	-	2	258	c.44G>A	c.(43-45)tGt>tAt	p.C15Y		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	15						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C15Y(1)		breast(1)|kidney(1)|ovary(1)|skin(1)	4						CCAGTCAATACATTCACATTC	0.383																																																1	Substitution - Missense(1)	kidney(1)											143	129	134					21																	34841149		2203	4300	6503	SO:0001583	missense	757			AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 4"	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.44G>A	21.37:g.34841149C>T	ENSP00000439768:p.Cys15Tyr		B2R4L4|D3DSF1|O60537|Q5PY47	Missense_Mutation	SNP	ENST00000542230.2	37	CCDS13625.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462239	0.84425	.	.	ENSG00000142188	ENST00000542230;ENST00000440644;ENST00000432504;ENST00000435619	T;T	0.29397	1.57;1.57	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.43163	-0.9408	10	0.51188	T	0.08	-35.2127	18.7918	0.91976	0.0:1.0:0.0:0.0	.	15	P56557	TM50B_HUMAN	Y	15	ENSP00000439768:C15Y;ENSP00000387622:C15Y	ENSP00000371390:C15Y	C	-	2	0	TMEM50B	33763019	1.000000	0.71417	0.835000	0.33067	0.965000	0.64279	6.621000	0.74228	2.730000	0.93505	0.655000	0.94253	TGT		0.383	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			T	34841149	C	T	34841149	3	4	172	1	0	0	0	0	1	0	0	0	16181	478	17	2	456	2	TMEM50B	21	34841149	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10		34841149	13288746	54	9991											
PRDM15	63977	broad.mit.edu	37	21	43230601	43230601	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr21:43230601T>A	ENST00000269844.3	-	28	3769	c.3659A>T	c.(3658-3660)gAc>gTc	p.D1220V	PRDM15_ENST00000422911.1_Missense_Mutation_p.D911V|PRDM15_ENST00000447207.2_Missense_Mutation_p.D854V|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.D891V|PRDM15_ENST00000538201.1_Missense_Mutation_p.D874V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.D1220V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTCCACCTTGTCGTGTGTGAG	0.617																																																1	Substitution - Missense(1)	kidney(1)											113	70	85					21																	43230601		2203	4300	6503	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3659A>T	21.37:g.43230601T>A	ENSP00000269844:p.Asp1220Val		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	t	21.6	4.168752	0.78339	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08458	4.79;4.79;4.79;4.79;3.09	3.96	3.96	0.45880	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	N	0.25332	0.735	0.80722	D	1	D;D;D	0.65815	0.995;0.988;0.995	P;P;P	0.58721	0.795;0.676;0.844	T	0.03325	-1.1048	9	0.54805	T	0.06	-34.8939	12.0092	0.53278	0.0:0.0:0.0:1.0	.	1220;911;891	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	911;891;874;854;1220	ENSP00000408592:D911V;ENSP00000381556:D891V;ENSP00000444044:D874V;ENSP00000390245:D854V;ENSP00000269844:D1220V	ENSP00000269844:D1220V	D	-	2	0	PRDM15	42103670	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.744000	0.85034	1.432000	0.47375	0.255000	0.18592	GAC		0.617	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		A	43230601	T	A	43230601	3	1	172	1	0	0	0	0	1	0	0	0	12461	1667	58	5	880	5	PRDM15	21	43230601	Missense_Mutation	SNP	T	TCGA-B0-5080-01A-01D-1501-10	8389452	43230601	4899294	55	9992											
TCF20	6942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42609019	42609019	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr22:42609019C>A	ENST00000359486.3	-	1	2429	c.2293G>T	c.(2293-2295)Gac>Tac	p.D765Y	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.D765Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D765Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TATCTCCTGTCAGGGTGGTGG	0.483																																																1	Substitution - Missense(1)	kidney(1)											107	87	94					22																	42609019		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2293G>T	22.37:g.42609019C>A	ENSP00000352463:p.Asp765Tyr		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111465	0.56398	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.69806	-0.43;-0.42	5.83	5.83	0.93111	.	0.071162	0.64402	D	0.000019	T	0.73118	0.3546	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.956	T	0.76528	-0.2926	10	0.87932	D	0	-22.9396	20.1208	0.97960	0.0:1.0:0.0:0.0	.	765;765	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	765	ENSP00000352463:D765Y;ENSP00000335561:D765Y	ENSP00000335561:D765Y	D	-	1	0	TCF20	40938963	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.736000	0.68597	2.758000	0.94735	0.655000	0.94253	GAC		0.483	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		A	42609019	C	A	42609019	3	1	172	1	0	0	0	0	1	0	0	0	15695	826	29	4	3627	4	TCF20	22	42609019	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10		42609019	8695547	56	9993											
FAM118A	55007	broad.mit.edu;ucsc.edu	37	22	45726594	45726595	+	Nonsense_Mutation	DNP	TC	TC	CT			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr22:45726594_45726595TC>CT	ENST00000216214.3	+	6	1467_1468	c.633_634TC>CT	c.(631-636)acTCaa>acCTaa	p.Q212*	FAM118A_ENST00000441876.2_Nonsense_Mutation_p.Q212*|FAM118A_ENST00000405548.3_Nonsense_Mutation_p.Q30*	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	212						integral component of membrane (GO:0016021)		p.Q212*(1)|p.T211T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGACGTCACTCAAGACGCAGA	0.589																																																2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001587	stop_gained	55007			BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	Exception_encountered	22.37:g.45726594_45726595delinsCT	ENSP00000216214:p.Gln212*		B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent|Nonsense_Mutation	SNP	ENST00000216214.3	37	CCDS14065.1																																																																																				0.589	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		CT	45726595	TC	CT	45726594	4	2	172	1	0	0	0	0	0	1	0	0	5413	1538	54	3	647	3	FAM118A	22	45726594	Nonsense_Mutation	DNP	TC	TCGA-B0-5080-01A-01D-1501-10	3117575	45726594	5577972	57	9994											
ZCCHC5	203430	broad.mit.edu;ucsc.edu	37	X	77913714	77913714	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chrX:77913714C>A	ENST00000321110.1	-	2	499	c.204G>T	c.(202-204)atG>atT	p.M68I		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	68	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.M68I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTGGGGGATTCATGTGCTCTG	0.587																																																1	Substitution - Missense(1)	kidney(1)											26	25	25					X																	77913714		2203	4300	6503	SO:0001583	missense	203430			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.204G>T	X.37:g.77913714C>A	ENSP00000316794:p.Met68Ile		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	7.072	0.568460	0.13560	.	.	ENSG00000179300	ENST00000321110	T	0.16743	2.32	3.24	1.39	0.22231	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33394	-0.9870	9	0.44086	T	0.13	.	2.4913	0.04611	0.2369:0.4936:0.0:0.2694	.	68	Q8N8U3	ZCHC5_HUMAN	I	68	ENSP00000316794:M68I	ENSP00000316794:M68I	M	-	3	0	ZCCHC5	77800370	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.255000	0.18333	0.223000	0.20920	0.513000	0.50165	ATG		0.587	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		A	77913714	C	A	77913714	3	1	172	1	0	0	0	0	1	0	0	0	17596	826	29	4	1227	4	ZCCHC5	23	77913714	Missense_Mutation	SNP	C	TCGA-B0-5080-01A-01D-1501-10		77913714	77356846	58	9995											
IGSF1	3547	broad.mit.edu;ucsc.edu	37	X	130409967	130409967	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chrX:130409967T>C	ENST00000361420.3	-	15	2943	c.2864A>G	c.(2863-2865)tAt>tGt	p.Y955C	IGSF1_ENST00000370910.1_Missense_Mutation_p.Y946C|IGSF1_ENST00000370904.1_Missense_Mutation_p.Y946C|IGSF1_ENST00000370903.3_Missense_Mutation_p.Y960C|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	955	Ig-like C2-type 9.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.Y955C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CATACTGAGATATGACCCCCT	0.502																																																1	Substitution - Missense(1)	kidney(1)											91	70	77					X																	130409967		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2864A>G	X.37:g.130409967T>C	ENSP00000355010:p.Tyr955Cys		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	4.429	0.079294	0.08533	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00737	5.76;5.76;5.76;5.76	5.2	2.68	0.31781	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.565866	0.13420	N	0.389267	T	0.01287	0.0042	L	0.34521	1.04	0.09310	N	1	P;B;D	0.56287	0.771;0.263;0.975	B;P;P	0.51657	0.296;0.676;0.526	T	0.56300	-0.8002	10	0.42905	T	0.14	.	9.0694	0.36482	0.0:0.0:0.3207:0.6793	.	946;399;955	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	C	946;955;946;960	ENSP00000359947:Y946C;ENSP00000355010:Y955C;ENSP00000359941:Y946C;ENSP00000359940:Y960C	ENSP00000355010:Y955C	Y	-	2	0	IGSF1	130237648	0.771000	0.28555	0.052000	0.19188	0.087000	0.18053	2.516000	0.45520	0.216000	0.20781	0.486000	0.48141	TAT		0.502	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			C	130409967	T	C	130409967	3	2	172	1	0	0	0	0	1	0	0	0	7598	1406	49	3	1170	3	IGSF1	23	130409967	Missense_Mutation	SNP	T	TCGA-B0-5080-01A-01D-1501-10	52496253	130409967	24860593	59	9996											
GPR101	83550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	136112591	136112591	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chrX:136112591A>T	ENST00000298110.1	-	1	1242	c.1243T>A	c.(1243-1245)Tac>Aac	p.Y415N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	415						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.Y415N(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AAAAAGCAGTAGGGCCCCAGG	0.517																																																1	Substitution - Missense(1)	kidney(1)											85	79	81					X																	136112591		2203	4300	6503	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1243T>A	X.37:g.136112591A>T	ENSP00000298110:p.Tyr415Asn		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394495	0.62066	.	.	ENSG00000165370	ENST00000298110	T	0.74526	-0.85	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30890	N	0.008678	T	0.81612	0.4859	L	0.48642	1.525	0.45791	D	0.998676	D	0.89917	1.0	D	0.87578	0.998	T	0.83349	-0.0004	10	0.87932	D	0	-21.0012	12.5824	0.56397	1.0:0.0:0.0:0.0	.	415	Q96P66	GP101_HUMAN	N	415	ENSP00000298110:Y415N	ENSP00000298110:Y415N	Y	-	1	0	GPR101	135940257	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	6.322000	0.72886	1.947000	0.56498	0.425000	0.28330	TAC		0.517	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			T	136112591	A	T	136112591	3	4	172	1	0	0	0	0	1	0	0	0	6624	420	15	5	286	5	GPR101	23	136112591	Missense_Mutation	SNP	A	TCGA-B0-5080-01A-01D-1501-10	5702624	136112591	19157969	60	9997											
HCFC1	3054	broad.mit.edu	37	X	153222975	153222975	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chrX:153222975G>A	ENST00000310441.7	-	13	3109	c.2143C>T	c.(2143-2145)Ccc>Tcc	p.P715S	HCFC1_ENST00000369984.4_Missense_Mutation_p.P715S|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.P646S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	715	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P618S(1)|p.P715S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGCAGGGGCCCTTTGGTC	0.637																																																2	Substitution - Missense(2)	kidney(2)											48	49	49					X																	153222975		2033	4160	6193	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2143C>T	X.37:g.153222975G>A	ENSP00000309555:p.Pro715Ser		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601279	0.66445	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03065	4.07;4.1;4.06	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	L	0.27053	0.805	0.50313	D	0.999869	P	0.51057	0.941	P	0.49332	0.607	T	0.34153	-0.9840	10	0.62326	D	0.03	.	16.9997	0.86378	0.0:0.0:1.0:0.0	.	715	P51610	HCFC1_HUMAN	S	715;715;646	ENSP00000309555:P715S;ENSP00000359001:P715S;ENSP00000346174:P646S	ENSP00000309555:P715S	P	-	1	0	HCFC1	152876169	1.000000	0.71417	0.996000	0.52242	0.498000	0.33706	5.932000	0.70121	2.277000	0.76020	0.600000	0.82982	CCC		0.637	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		A	153222975	G	A	153222975	3	1	172	1	0	0	0	0	1	0	0	0	6993	1203	42	2	4020	2	HCFC1	23	153222975	Missense_Mutation	SNP	G	TCGA-B0-5080-01A-01D-1501-10	17110384	153222975	2047585	61	9998											
TEKT2	27285	broad.mit.edu	37	1	36553613	36553613	+	Silent	SNP	G	G	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr1:36553613G>T	ENST00000207457.3	+	10	1246	c.1119G>T	c.(1117-1119)ctG>ctT	p.L373L	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	373					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.L373L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCCCGGCTGCAGGCTGACA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											40	30	34					1																	36553613		2203	4300	6503	SO:0001819	synonymous_variant	27285			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.1119G>T	1.37:g.36553613G>T			A6NIS6|O60638	Silent	SNP	ENST00000207457.3	37	CCDS401.1																																																																																				0.652	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		T	36553613	G	T	36553613	2	4	173	1	0	0	0	0	0	0	0	1	15758	1306	46	4		4	TEKT2	1	36553613	Silent	SNP	G	TCGA-B0-5081-01A-01D-1462-08		36553613	212697008	1	9999											
CD34	947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	208062095	208062095	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr1:208062095C>A	ENST00000310833.7	-	7	1225	c.904G>T	c.(904-906)Gct>Tct	p.A302S	CD34_ENST00000356522.4_Missense_Mutation_p.A302S|CD34_ENST00000367036.3_Missense_Mutation_p.A144S|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.A167S	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	302					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)	p.A302S(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCCAAGACAGCCAGCAGGGCT	0.552																																																1	Substitution - Missense(1)	kidney(1)											191	206	201					1																	208062095		2203	4300	6503	SO:0001583	missense	947			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"CD molecules"	1662	protein-coding gene	gene with protein product		142230	"CD34 antigen"			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.904G>T	1.37:g.208062095C>A	ENSP00000310036:p.Ala302Ser		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331168	0.60853	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.74881	2.28	0.46356	D	0.999007	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.998;0.999;0.999;0.996	T	0.52866	-0.8518	10	0.87932	D	0	-16.1433	13.0066	0.58707	0.0:1.0:0.0:0.0	.	167;302;302;144	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	S	302;302;144;167;272	ENSP00000310036:A302S;ENSP00000348916:A302S;ENSP00000356003:A144S;ENSP00000442874:A167S	ENSP00000310036:A302S	A	-	1	0	CD34	206128718	1.000000	0.71417	0.998000	0.56505	0.190000	0.23558	3.963000	0.56773	2.524000	0.85096	0.650000	0.86243	GCT		0.552	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		A	208062095	C	A	208062095	3	1	173	1	0	0	0	0	1	0	0	0	3008	739	26	4	280	4	CD34	1	208062095	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08	171508482	208062095	41188526	2	10000											
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	216405369	216405369	+	Silent	SNP	T	T	C	rs138484134		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr1:216405369T>C	ENST00000307340.3	-	14	3305	c.2919A>G	c.(2917-2919)caA>caG	p.Q973Q	USH2A_ENST00000366942.3_Silent_p.Q973Q|USH2A_ENST00000366943.2_Silent_p.Q973Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	973	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q973Q(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGAAGCATCTTGGCAAACAC	0.443										HNSCC(13;0.011)			T|||	1	0.000199681	0.0	0.0	5008	,	,		14525	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											149	134	139					1																	216405369		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2919A>G	1.37:g.216405369T>C			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216405369	T	C	216405369	2	2	173	1	0	0	0	0	0	0	0	1	17041	1606	56	3		3	USH2A	1	216405369	Silent	SNP	T	TCGA-B0-5081-01A-01D-1462-08	8343274	216405369	32845252	3	10001											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179395676	179395676	+	Silent	SNP	C	C	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr2:179395676C>T	ENST00000591111.1	-	308	100967	c.100743G>A	c.(100741-100743)agG>agA	p.R33581R	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.R26282R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.R26157R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000589042.1_Silent_p.R35222R|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Silent_p.R26349R|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Silent_p.R32654R|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33581					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)	p.R26349R(1)|p.R26282R(1)|p.R26157R(1)|p.R32652R(1)|p.R32654R(1)		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)			TTTCAGTTACCCTGGCCTTTT	0.483																																																5	Substitution - coding silent(5)	kidney(5)											191	185	187					2																	179395676		1896	4112	6008	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100743G>A	2.37:g.179395676C>T			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179395676	C	T	179395676	2	4	173	1	0	0	0	0	0	0	0	1	16740	622	22	2		2	TTN	2	179395676	Silent	SNP	C	TCGA-B0-5081-01A-01D-1462-08		179395676	63803697	4	10002											
AQP12A	375318	broad.mit.edu;hgsc.bcm.edu	37	2	241631447	241631447	+	Silent	SNP	G	G	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr2:241631447G>C	ENST00000337801.4	+	1	186	c.117G>C	c.(115-117)cgG>cgC	p.R39R	AQP12A_ENST00000429564.1_Silent_p.R39R|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	39						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.R39R(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TCTTCGCCCGGGAGGCGGTGG	0.692																																																1	Substitution - coding silent(1)	kidney(1)											26	36	33					2																	241631447		2169	4270	6439	SO:0001819	synonymous_variant	375318			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.117G>C	2.37:g.241631447G>C				Silent	SNP	ENST00000337801.4	37		.	.	.	.	.	.	.	.	.	.	.	0.818	-0.749510	0.03065	.	.	ENSG00000184945	ENST00000420599	.	.	.	2.43	0.452	0.16634	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31779	-0.9931	5	0.07813	T	0.8	1.1681	2.3508	0.04283	0.3052:0.0:0.4569:0.238	.	.	.	.	A	12	.	ENSP00000399666:G12A	G	+	2	0	AQP12A	241280120	0.360000	0.24964	0.019000	0.16419	0.077000	0.17291	-0.042000	0.12063	-0.018000	0.14079	0.186000	0.17326	GGG		0.692	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		C	241631447	G	C	241631447	2	2	173	1	0	0	0	0	0	0	0	1	824	1219	43	4		4	AQP12A	2	241631447	Silent	SNP	G	TCGA-B0-5081-01A-01D-1462-08	62235771	241631447	1567926	5	10003											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191513	10191513	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:10191513T>C	ENST00000256474.2	+	3	1346	c.506T>C	c.(505-507)cTa>cCa	p.L169P	VHL_ENST00000345392.2_Missense_Mutation_p.L128P|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	169					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L169P(11)|p.L169fs*33(2)|p.S168fs*3(1)|p.V170fs*31(1)|p.L169_V170del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCCGGAGCCTAGTCAAGCCT	0.517		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	16	Substitution - Missense(11)|Deletion - Frameshift(4)|Deletion - In frame(1)	kidney(16)	GRCh37	CM003060	VHL	M							95	86	89					3																	10191513		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.506T>C	3.37:g.10191513T>C	ENSP00000256474:p.Leu169Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.866443	0.72065	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99856	-7.21;-7.21	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000004	D	0.99782	0.9909	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96607	0.9449	10	0.87932	D	0	-8.7798	12.7224	0.57149	0.0:0.0:0.0:1.0	.	128;169	P40337-2;P40337	.;VHL_HUMAN	P	169;128;87	ENSP00000256474:L169P;ENSP00000344757:L128P	ENSP00000256474:L169P	L	+	2	0	VHL	10166513	1.000000	0.71417	0.937000	0.37676	0.716000	0.41182	5.790000	0.69038	2.162000	0.67917	0.533000	0.62120	CTA		0.517	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10191513	T	C	10191513	3	2	173	1	0	0	0	0	1	0	0	0	17167	1522	53	3	516	3	VHL	3	10191513	Missense_Mutation	SNP	T	TCGA-B0-5081-01A-01D-1462-08		10191513	187830917	6	10004											
UBE2E2	7325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	23541185	23541185	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:23541185T>C	ENST00000396703.1	+	4	494	c.314T>C	c.(313-315)tTt>tCt	p.F105S	UBE2E2_ENST00000425792.1_Missense_Mutation_p.F105S	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	105					ISG15-protein conjugation (GO:0032020)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)		ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.F105S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						GGGGTGTTCTTTCTTGACATT	0.388																																					GBM(85;1941 2083 9456)											1	Substitution - Missense(1)	kidney(1)											106	95	99					3																	23541185		2203	4300	6503	SO:0001583	missense	7325			AK057886	CCDS2637.1	3p24.2	2011-05-19	2011-05-19		ENSG00000182247	ENSG00000182247		"Ubiquitin-conjugating enzymes E2"	12478	protein-coding gene	gene with protein product		602163	"ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast)"			9371400	Standard	NM_152653		Approved	UbcH8, FLJ25157	uc003ccg.2	Q96LR5	OTTHUMG00000130482	ENST00000396703.1:c.314T>C	3.37:g.23541185T>C	ENSP00000379931:p.Phe105Ser			Missense_Mutation	SNP	ENST00000396703.1	37	CCDS2637.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690545	0.88735	.	.	ENSG00000182247	ENST00000425792;ENST00000452894;ENST00000396703	T;T;T	0.35973	1.28;1.28;1.28	5.7	5.7	0.88788	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	T	0.50922	0.1644	L	0.41824	1.3	0.58432	D	0.999999	D	0.69078	0.997	D	0.67725	0.953	T	0.52917	-0.8511	10	0.87932	D	0	.	15.6349	0.76944	0.0:0.0:0.0:1.0	.	105	Q96LR5	UB2E2_HUMAN	S	105;129;105	ENSP00000401053:F105S;ENSP00000392800:F129S;ENSP00000379931:F105S	ENSP00000379931:F105S	F	+	2	0	UBE2E2	23516189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	2.159000	0.67721	0.533000	0.62120	TTT		0.388	UBE2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252881.2	NM_152653		C	23541185	T	C	23541185	3	2	173	1	0	0	0	0	1	0	0	0	16858	1841	64	3	324	3	UBE2E2	3	23541185	Missense_Mutation	SNP	T	TCGA-B0-5081-01A-01D-1462-08	13349672	23541185	174481245	7	10005											
SUSD5	26032	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33194429	33194429	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:33194429G>T	ENST00000309558.3	-	5	2112	c.1695C>A	c.(1693-1695)gaC>gaA	p.D565E		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	565					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.D565E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGGACATCCGTCCCCCACAC	0.617																																																1	Substitution - Missense(1)	kidney(1)											57	63	61					3																	33194429		2197	4291	6488	SO:0001583	missense	26032			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1695C>A	3.37:g.33194429G>T	ENSP00000308727:p.Asp565Glu			Missense_Mutation	SNP	ENST00000309558.3	37	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	G	1.105	-0.660048	0.03454	.	.	ENSG00000173705	ENST00000309558	T	0.07800	3.16	5.8	-4.74	0.03249	.	0.444709	0.24564	N	0.037449	T	0.03477	0.0100	L	0.36672	1.1	0.09310	N	1	B	0.15719	0.014	B	0.13407	0.009	T	0.46205	-0.9208	10	0.02654	T	1	-6.1174	2.5204	0.04678	0.2999:0.2889:0.317:0.0942	.	565	O60279	SUSD5_HUMAN	E	565	ENSP00000308727:D565E	ENSP00000308727:D565E	D	-	3	2	SUSD5	33169433	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.374000	0.02566	-0.427000	0.07350	0.650000	0.86243	GAC		0.617	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		T	33194429	G	T	33194429	3	4	173	1	0	0	0	0	1	0	0	0	15416	1136	40	4	198	4	SUSD5	3	33194429	Missense_Mutation	SNP	G	TCGA-B0-5081-01A-01D-1462-08	9653244	33194429	164828001	8	10006											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu	37	3	47163945	47163945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:47163945G>T	ENST00000409792.3	-	3	2223	c.2181C>A	c.(2179-2181)tgC>tgA	p.C727*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	727					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.C224*(1)|p.C727*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTTTTCTTTGCACCTACTAA	0.393			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											104	104	104					3																	47163945		2202	4299	6501	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2181C>A	3.37:g.47163945G>T	ENSP00000386759:p.Cys727*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	37	6.502881	0.97620	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.18	3.11	0.35812	.	0.205916	0.34460	N	0.003943	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0431	0.19746	0.6645:0.0:0.3355:0.0	.	.	.	.	X	727;727;727;683	.	.	C	-	3	2	SETD2	47138949	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.997000	0.40786	0.607000	0.29982	0.655000	0.94253	TGC		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47163945	G	T	47163945	4	4	173	1	0	0	0	0	0	1	0	0	14137	1311	46	4	5589	4	SETD2	3	47163945	Nonsense_Mutation	SNP	G	TCGA-B0-5081-01A-01D-1462-08	13969516	47163945	150858485	9	10007											
CCDC51	79714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48475152	48475152	+	Silent	SNP	A	A	G			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:48475152A>G	ENST00000395694.2	-	3	527	c.442T>C	c.(442-444)Ttg>Ctg	p.L148L	CCDC51_ENST00000412398.2_Silent_p.L39L|CCDC51_ENST00000442740.1_Silent_p.L39L|CCDC51_ENST00000447018.1_Silent_p.L39L|CCDC51_ENST00000395696.1_Silent_p.L148L	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	148						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L148L(2)		endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCAGTTCCAAGTACTGACTG	0.602																																																2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											118	130	126					3																	48475152		2103	4213	6316	SO:0001819	synonymous_variant	79714			AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.442T>C	3.37:g.48475152A>G			Q9HA01	Silent	SNP	ENST00000395694.2	37	CCDS2766.2																																																																																				0.602	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		G	48475152	A	G	48475152	2	3	173	1	0	0	0	0	0	0	0	1	2823	69	3	3		3	CCDC51	3	48475152	Silent	SNP	A	TCGA-B0-5081-01A-01D-1462-08	1311207	48475152	149547278	10	10008											
CCDC80	151887	broad.mit.edu;ucsc.edu	37	3	112357811	112357811	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:112357811G>C	ENST00000206423.3	-	2	1895	c.942C>G	c.(940-942)gaC>gaG	p.D314E	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.D314E	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	314					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.D314E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCTCCTTGGGTCCTCTTTCT	0.617																																																1	Substitution - Missense(1)	kidney(1)											126	117	120					3																	112357811		2203	4300	6503	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.942C>G	3.37:g.112357811G>C	ENSP00000206423:p.Asp314Glu		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.683967	0.00745	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.39592	1.07;1.07	4.65	-2.25	0.06888	.	0.644610	0.16597	N	0.207502	T	0.15089	0.0364	N	0.14661	0.345	0.58432	D	0.999998	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.30592	-0.9973	10	0.06891	T	0.86	-13.6427	1.467	0.02408	0.3566:0.2735:0.2372:0.1328	.	325;314;314	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	E	314	ENSP00000206423:D314E;ENSP00000411814:D314E	ENSP00000206423:D314E	D	-	3	2	CCDC80	113840501	0.000000	0.05858	0.007000	0.13788	0.048000	0.14542	-0.821000	0.04452	-0.638000	0.05509	-1.164000	0.01763	GAC		0.617	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		C	112357811	G	C	112357811	3	2	173	1	0	0	0	0	1	0	0	0	2856	1252	44	4	1938	4	CCDC80	3	112357811	Missense_Mutation	SNP	G	TCGA-B0-5081-01A-01D-1462-08	63882659	112357811	85664619	11	10009											
COL6A6	131873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130300741	130300741	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:130300741G>A	ENST00000358511.6	+	8	3915	c.3884G>A	c.(3883-3885)cGa>cAa	p.R1295Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1295Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1295	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1295Q(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAGCTGCTCGAGGAAAGGTA	0.343																																																1	Substitution - Missense(1)	kidney(1)											149	141	144					3																	130300741		1844	4095	5939	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3884G>A	3.37:g.130300741G>A	ENSP00000351310:p.Arg1295Gln		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.215297|3.215297	0.58452|0.58452	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000511332|ENST00000358511;ENST00000453409	.|T;T	.|0.59502	.|0.26;0.26	5.95|5.95	5.95|5.95	0.96441|0.96441	.|von Willebrand factor, type A (2);	.|.	.|.	.|.	.|.	T|T	0.68366|0.68366	0.2993|0.2993	L|L	0.49126|0.49126	1.545|1.545	0.29019|0.29019	N|N	0.886394|0.886394	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.60835|0.60835	-0.7184|-0.7184	5|9	.|0.22706	.|T	.|0.39	.|.	12.4831|12.4831	0.55856|0.55856	0.0771:0.0:0.9229:0.0|0.0771:0.0:0.9229:0.0	.|.	.|1295	.|A6NMZ7	.|CO6A6_HUMAN	K|Q	53|1295	.|ENSP00000351310:R1295Q;ENSP00000399236:R1295Q	.|ENSP00000351310:R1295Q	E|R	+|+	1|2	0|0	COL6A6|COL6A6	131783431|131783431	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.500000|0.500000	0.33767|0.33767	3.909000|3.909000	0.56363|0.56363	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.343	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130300741	G	A	130300741	3	1	173	1	0	0	0	0	1	0	0	0	3705	1058	37	1	3914	1	COL6A6	3	130300741	Missense_Mutation	SNP	G	TCGA-B0-5081-01A-01D-1462-08	17942930	130300741	67721689	12	10010											
PYDC2	152138	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	191178998	191178998	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:191178998A>G	ENST00000518817.1	+	1	47	c.47A>G	c.(46-48)gAg>gGg	p.E16G		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	16	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E16G(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						GCTCTTCTGGAGCAGCTCAGC	0.542																																																1	Substitution - Missense(1)	kidney(1)											69	75	73					3																	191178998		2203	4300	6503	SO:0001583	missense	152138					3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.47A>G	3.37:g.191178998A>G	ENSP00000428325:p.Glu16Gly			Missense_Mutation	SNP	ENST00000518817.1	37		.	.	.	.	.	.	.	.	.	.	A	13.38	2.221095	0.39201	.	.	ENSG00000253548	ENST00000518817	T	0.60171	0.21	0.688	0.688	0.18027	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.70491	0.3230	.	.	.	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.56914	-0.7900	7	0.62326	D	0.03	.	.	.	.	.	16	Q56P42	PYDC2_HUMAN	G	16	ENSP00000428325:E16G	ENSP00000428325:E16G	E	+	2	0	PYDC2	192661692	0.767000	0.28508	0.408000	0.26446	0.194000	0.23727	0.954000	0.29175	0.530000	0.28619	0.260000	0.18958	GAG		0.542	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343231.2	NM_001083308		G	191178998	A	G	191178998	3	3	173	1	0	0	0	0	1	0	0	0	12865	304	11	3	49	3	PYDC2	3	191178998	Missense_Mutation	SNP	A	TCGA-B0-5081-01A-01D-1462-08	60878257	191178998	6843432	13	10011											
POLN	353497	broad.mit.edu	37	4	2073957	2073957	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr4:2073957C>A	ENST00000511885.2	-	26	2940	c.2587G>T	c.(2587-2589)Ggc>Tgc	p.G863C	POLN_ENST00000382865.1_Missense_Mutation_p.G863C			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	863					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.G863C(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GGCGGAGGGCCCCAGGCCTCC	0.697								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	kidney(1)											25	32	30					4																	2073957		2201	4298	6499	SO:0001583	missense	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2587G>T	4.37:g.2073957C>A	ENSP00000435506:p.Gly863Cys		A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.18|12.18	1.861585|1.861585	0.32884|0.32884	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000253313|ENST00000511885;ENST00000382865	.|T;T	.|0.08984	.|3.03;3.03	4.15|4.15	1.39|1.39	0.22231|0.22231	.|.	.|1.385230	.|0.04993	.|N	.|0.467674	.|T	.|0.12008	.|0.0292	L|L	0.27053|0.27053	0.805|0.805	0.20563|0.20563	N|N	0.999883|0.999883	.|D	.|0.69078	.|0.997	.|P	.|0.55667	.|0.781	.|T	.|0.18903	.|-1.0322	.|10	.|0.72032	.|D	.|0.01	.|0.26	3.697|3.697	0.08368|0.08368	0.1924:0.5947:0.0:0.2129|0.1924:0.5947:0.0:0.2129	.|.	.|863	.|Q7Z5Q5	.|DPOLN_HUMAN	.|C	-1|863	.|ENSP00000435506:G863C;ENSP00000372316:G863C	.|ENSP00000372316:G863C	.|G	-|-	.|1	.|0	POLN|POLN	2043755|2043755	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.252000|0.252000	0.25951|0.25951	-1.268000|-1.268000	0.02836|0.02836	0.057000|0.057000	0.16193|0.16193	-0.258000|-0.258000	0.10820|0.10820	.|GGC		0.697	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		A	2073957	C	A	2073957	3	1	173	1	0	0	0	0	1	0	0	0	12209	623	22	4	119	4	POLN	4	2073957	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08		2073957	189080319	14	10012											
C4orf41	60684	broad.mit.edu;ucsc.edu	37	4	184600619	184600619	+	Silent	SNP	T	T	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr4:184600619T>C	ENST00000334690.6	+	9	1147	c.945T>C	c.(943-945)caT>caC	p.H315H	TRAPPC11_ENST00000357207.4_Silent_p.H315H	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	315					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.H315H(1)									CTTTTGAGCATGATGCATGGA	0.353																																																1	Substitution - coding silent(1)	kidney(1)											105	105	105					4																	184600619		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.945T>C	4.37:g.184600619T>C			A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	CCDS34112.1																																																																																				0.353	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		C	184600619	T	C	184600619	2	2	173	1	0	0	0	0	0	0	0	1	2272	1461	51	3		3	C4orf41	4	184600619	Silent	SNP	T	TCGA-B0-5081-01A-01D-1462-08	182526662	184600619	6553657	15	10013											
IRX2	153572	broad.mit.edu	37	5	2748714	2748714	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr5:2748714A>T	ENST00000382611.6	-	3	1356	c.1108T>A	c.(1108-1110)Tcg>Acg	p.S370T	IRX2_ENST00000502957.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.S370T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	370					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S370T(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGGTAGGGCGAGCCTCCTGGC	0.731																																																1	Substitution - Missense(1)	kidney(1)											22	23	23					5																	2748714		2181	4252	6433	SO:0001583	missense	153572			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1108T>A	5.37:g.2748714A>T	ENSP00000372056:p.Ser370Thr		Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	A	0.102	-1.150758	0.01700	.	.	ENSG00000170561	ENST00000382611;ENST00000302057	T;T	0.64991	-0.13;-0.13	4.67	4.67	0.58626	.	0.393637	0.29342	N	0.012439	T	0.44435	0.1293	L	0.40543	1.245	0.30826	N	0.737191	B	0.34015	0.435	B	0.30401	0.115	T	0.42327	-0.9458	10	0.12766	T	0.61	-17.672	5.9132	0.19039	0.6781:0.2297:0.0922:0.0	.	370	Q9BZI1	IRX2_HUMAN	T	370	ENSP00000372056:S370T;ENSP00000307006:S370T	ENSP00000307006:S370T	S	-	1	0	IRX2	2801714	1.000000	0.71417	0.963000	0.40424	0.059000	0.15707	2.534000	0.45676	1.865000	0.54081	0.459000	0.35465	TCG		0.731	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			T	2748714	A	T	2748714	3	4	173	1	0	0	0	0	1	0	0	0	7846	304	11	5	315	5	IRX2	5	2748714	Missense_Mutation	SNP	A	TCGA-B0-5081-01A-01D-1462-08		2748714	178166546	16	10014											
PELO	53918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	52096856	52096856	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr5:52096856C>G	ENST00000274311.2	+	2	1613	c.628C>G	c.(628-630)Cca>Gca	p.P210A	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	210					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.P210A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGTGGCCAGCCCAGGATTTGT	0.517																																																1	Substitution - Missense(1)	kidney(1)											74	74	74					5																	52096856		2202	4300	6502	SO:0001583	missense	53918				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.628C>G	5.37:g.52096856C>G	ENSP00000274311:p.Pro210Ala		Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300459	0.81136	.	.	ENSG00000152684	ENST00000274311	T	0.73681	-0.77	5.25	5.25	0.73442	eRF1 domain 2 (1);	0.000000	0.85682	U	0.000000	D	0.90769	0.7102	H	0.96662	3.86	0.80722	D	1	D	0.61697	0.99	D	0.65987	0.94	D	0.93515	0.6856	10	0.87932	D	0	-5.0769	18.6403	0.91393	0.0:1.0:0.0:0.0	.	210	Q9BRX2	PELO_HUMAN	A	210	ENSP00000274311:P210A	ENSP00000274311:P210A	P	+	1	0	PELO	52132613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.872000	0.75536	2.737000	0.93849	0.563000	0.77884	CCA		0.517	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		G	52096856	C	G	52096856	3	3	173	1	0	0	0	0	1	0	0	0	11726	623	22	4	630	4	PELO	5	52096856	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08	49348142	52096856	128818404	17	10015											
IL6ST	3572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	55247810	55247810	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr5:55247810C>A	ENST00000381298.2	-	13	1958	c.1646G>T	c.(1645-1647)gGa>gTa	p.G549V	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.G488V|IL6ST_ENST00000336909.5_Missense_Mutation_p.G549V|IL6ST_ENST00000502326.3_Missense_Mutation_p.G549V|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000522633.2_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	549	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.G549V(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTGATAAATCCATTCTGAAC	0.333			O		hepatocellular ca																																		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	1	Substitution - Missense(1)	kidney(1)											52	46	48					5																	55247810		2203	4300	6503	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1646G>T	5.37:g.55247810C>A	ENSP00000370698:p.Gly549Val		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451607	0.84209	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.65549	-0.16;-0.16;1.9	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87937	0.2714	10	0.87932	D	0	.	19.8493	0.96733	0.0:1.0:0.0:0.0	.	549;488;549	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	V	549;549;488	ENSP00000370698:G549V;ENSP00000338799:G549V;ENSP00000370694:G488V	ENSP00000338799:G549V	G	-	2	0	IL6ST	55283567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.663000	0.68038	2.701000	0.92244	0.563000	0.77884	GGA		0.333	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		A	55247810	C	A	55247810	3	1	173	1	0	0	0	0	1	0	0	0	7705	855	30	4	1130	4	IL6ST	5	55247810	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08	3150954	55247810	125667450	18	10016											
TTC37	9652	broad.mit.edu;hgsc.bcm.edu	37	5	94803695	94803695	+	Splice_Site	SNP	T	T	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr5:94803695T>C	ENST00000358746.2	-	42	4795		c.e42-2			NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37							cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.?(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CGTGTCTCTCTGGAAAAAAAA	0.368																																																1	Unknown(1)	kidney(1)											60	59	59					5																	94803695		2203	4300	6503	SO:0001630	splice_region_variant	9652			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4497-2A>G	5.37:g.94803695T>C			O15077|Q6PJI3	Splice_Site	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648093	0.47258	.	.	ENSG00000198677	ENST00000358746	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8578	0.70355	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC37	94829451	1.000000	0.71417	0.958000	0.39756	0.395000	0.30598	6.429000	0.73387	2.000000	0.58554	0.459000	0.35465	.		0.368	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	Intron	C	94803695	T	C	94803695	5	2	173	1	0	0	0	0	0	0	1	0	16710	1594	55	3	207	3	TTC37	5	94803695	Splice_Site	SNP	T	TCGA-B0-5081-01A-01D-1462-08	39555885	94803695	86111565	19	10017											
KLHL3	26249	broad.mit.edu;ucsc.edu	37	5	136974757	136974757	+	Silent	SNP	G	G	A	rs373765961		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr5:136974757G>A	ENST00000309755.4	-	10	1547	c.1104C>T	c.(1102-1104)gaC>gaT	p.D368D	KLHL3_ENST00000508657.1_Silent_p.D336D|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506491.1_Silent_p.D286D|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	368					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.D368D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CCTTCACGCCGTCATACACAT	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18412	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	94	70	78		1104	-6.4	0.5	5		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL3	NM_017415.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		368/588	136974757	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26249			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1104C>T	5.37:g.136974757G>A			B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	CCDS4192.1																																																																																				0.607	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			A	136974757	G	A	136974757	2	1	173	1	0	0	0	0	0	0	0	1	8385	1136	40	1		1	KLHL3	5	136974757	Silent	SNP	G	TCGA-B0-5081-01A-01D-1462-08	42171062	136974757	43940503	20	10018											
SENP6	26054	hgsc.bcm.edu	37	6	76369015	76369015	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr6:76369015A>T	ENST00000447266.2	+	8	1066	c.588A>T	c.(586-588)caA>caT	p.Q196H	SENP6_ENST00000327284.8_Missense_Mutation_p.Q189H|SENP6_ENST00000370010.2_Missense_Mutation_p.Q189H|SENP6_ENST00000436928.3_3'UTR|SENP6_ENST00000370014.3_Missense_Mutation_p.Q196H	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	196					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CCGAATCACAAGTGGAGCCTG	0.353																																																0													83	76	78					6																	76369015		1842	4094	5936	SO:0001583	missense	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.588A>T	6.37:g.76369015A>T	ENSP00000402527:p.Gln196His		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.501151	0.26861	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.92	-3.29	0.05017	.	1.020380	0.07781	N	0.953369	T	0.04634	0.0126	N	0.02011	-0.69	0.35433	D	0.79418	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.21586	-1.0241	10	0.32370	T	0.25	-0.1492	3.2058	0.06665	0.5812:0.1132:0.081:0.2246	.	189;196;189	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	H	189;196;189;196;86;86	ENSP00000359027:Q189H;ENSP00000359031:Q196H;ENSP00000321820:Q189H;ENSP00000402527:Q196H;ENSP00000426480:Q86H;ENSP00000391426:Q86H	ENSP00000321820:Q189H	Q	+	3	2	SENP6	76425735	0.004000	0.15560	0.006000	0.13384	0.893000	0.52053	-0.089000	0.11180	-0.829000	0.04268	-0.331000	0.08364	CAA		0.353	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		T	76369015	A	T	76369015	3	4	173	1	0	0	0	0	1	0	0	0	14056	69	3	5	618	5	SENP6	6	76369015	Missense_Mutation	SNP	A	TCGA-B0-5081-01A-01D-1462-08		76369015	94746052	21	10019											
CCR6	1235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	167550763	167550763	+	Missense_Mutation	SNP	G	G	A	rs113115632		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr6:167550763G>A	ENST00000341935.5	+	3	1597	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.A349T|CCR6_ENST00000349984.4_Missense_Mutation_p.A349T	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	349					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.A349T(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTTCTCCTGTGCCGGGAGGTA	0.478																																																1	Substitution - Missense(1)	kidney(1)											67	66	66					6																	167550763		2203	4300	6503	SO:0001583	missense	1235			U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.1045G>A	6.37:g.167550763G>A	ENSP00000343952:p.Ala349Thr		E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	G	1.633	-0.518486	0.04171	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.66638	-0.22;-0.22;-0.22	5.06	0.15	0.14883	.	3.255590	0.01870	U	0.037178	T	0.21227	0.0511	N	0.08118	0	0.09310	N	0.999997	B	0.16166	0.016	B	0.14578	0.011	T	0.10132	-1.0643	10	0.13108	T	0.6	.	8.7198	0.34434	0.0:0.0786:0.4818:0.4396	.	349	P51684	CCR6_HUMAN	T	349	ENSP00000383715:A349T;ENSP00000343952:A349T;ENSP00000339393:A349T	ENSP00000343952:A349T	A	+	1	0	CCR6	167470753	0.002000	0.14202	0.031000	0.17742	0.001000	0.01503	0.447000	0.21710	0.063000	0.16370	-1.028000	0.02416	GCC		0.478	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			A	167550763	G	A	167550763	3	1	173	1	0	0	0	0	1	0	0	0	2947	1319	46	2	1051	2	CCR6	6	167550763	Missense_Mutation	SNP	G	TCGA-B0-5081-01A-01D-1462-08	91181748	167550763	3564304	22	10020											
CARD11	84433	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	2953040	2953040	+	Missense_Mutation	SNP	C	C	G	rs141751925	byFrequency	TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr7:2953040C>G	ENST00000396946.4	-	22	3303	c.2900G>C	c.(2899-2901)cGc>cCc	p.R967P		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	967					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R960P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTAGAAGGCGCGTACCAGGCT	0.677			Mis		DLBCL																																		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	1	Substitution - Missense(1)	kidney(1)											73	63	67					7																	2953040		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2900G>C	7.37:g.2953040C>G	ENSP00000380150:p.Arg967Pro		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332195	0.24167	.	.	ENSG00000198286	ENST00000396946	T	0.32753	1.44	4.36	3.47	0.39725	.	0.334784	0.27231	N	0.020313	T	0.19485	0.0468	N	0.24115	0.695	0.39614	D	0.969928	B	0.33000	0.393	B	0.32724	0.151	T	0.10753	-1.0616	10	0.72032	D	0.01	-24.9651	8.2371	0.31634	0.0:0.8208:0.0:0.1792	.	967	Q9BXL7	CAR11_HUMAN	P	967	ENSP00000380150:R967P	ENSP00000380150:R967P	R	-	2	0	CARD11	2919566	0.475000	0.25894	0.981000	0.43875	0.587000	0.36485	0.795000	0.26972	1.985000	0.57927	0.484000	0.47621	CGC		0.677	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		G	2953040	C	G	2953040	3	3	173	1	0	0	0	0	1	0	0	0	2647	768	27	4	580	4	CARD11	7	2953040	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08		2953040	156185623	23	10021											
COL15A1	1306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	101824283	101824284	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr9:101824283_101824284CT>AA	ENST00000375001.3	+	37	3856_3857	c.3433_3434CT>AA	c.(3433-3435)CTg>AAg	p.L1145K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1145	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.L1145>?(1)|p.L1145Q(1)|p.L1145M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGATGACATGCTGCAGAAAGCG	0.421																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	Exception_encountered	9.37:g.101824283_101824284delinsAA	ENSP00000364140:p.Leu1145Lys		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.421	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		AA	101824284	CT	AA	101824283	3	1	173	1	0	0	0	0	1	0	0	0	3674	796	28	4	3579	4	COL15A1	9	101824283	Missense_Mutation	DNP	CT	TCGA-B0-5081-01A-01D-1462-08		101824283	39389148	24	10022											
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113265449	113265449	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr9:113265449C>A	ENST00000401783.2	-	6	1688	c.1352G>T	c.(1351-1353)tGt>tTt	p.C451F	SVEP1_ENST00000302728.8_Missense_Mutation_p.C451F|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.C428F|SVEP1_ENST00000374469.1_Missense_Mutation_p.C428F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	451	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.C451F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTTGTAGAACAGCTGATGTG	0.388																																																1	Substitution - Missense(1)	kidney(1)											152	149	150					9																	113265449		1981	4155	6136	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1352G>T	9.37:g.113265449C>A	ENSP00000384917:p.Cys451Phe		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499782	0.85176	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.71	5.71	0.89125	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	M	0.88640	2.97	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.66606	-0.5881	10	0.66056	D	0.02	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	451;451;451	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	F	451;428;451;428	ENSP00000384917:C451F;ENSP00000363593:C428F;ENSP00000304118:C451F;ENSP00000363585:C428F	ENSP00000304118:C451F	C	-	2	0	SVEP1	112305270	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.930000	0.75858	2.687000	0.91594	0.655000	0.94253	TGT		0.388	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	113265449	C	A	113265449	3	1	173	1	0	0	0	0	1	0	0	0	15425	478	17	4	9535	4	SVEP1	9	113265449	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08	11441166	113265449	27947982	25	10023											
CACNA1B	774	broad.mit.edu;hgsc.bcm.edu	37	9	141015984	141015984	+	Missense_Mutation	SNP	G	G	A	rs538992240		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr9:141015984G>A	ENST00000371372.1	+	47	6698	c.6553G>A	c.(6553-6555)Ggt>Agt	p.G2185S	CACNA1B_ENST00000277549.5_Missense_Mutation_p.G1379S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G2186S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G2184S|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G2183S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2185					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.G2185S(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCCGGCCGCGGTGGGCGGAG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		12894	0.0		0.0	False		,,,				2504	0.001															2	Substitution - Missense(2)	endometrium(1)|kidney(1)											30	35	33					9																	141015984		1935	4114	6049	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6553G>A	9.37:g.141015984G>A	ENSP00000360423:p.Gly2185Ser		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069373	0.36470	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97731	-4.21;-4.51;-4.22;-4.21;-4.2	5.0	2.07	0.26955	.	0.208541	0.41500	N	0.000880	D	0.95089	0.8409	L	0.53249	1.67	0.39290	D	0.96472	D;D	0.58620	0.983;0.983	B;B	0.42771	0.397;0.397	D	0.91761	0.5420	10	0.54805	T	0.06	.	7.1047	0.25356	0.1492:0.0:0.7113:0.1395	.	2184;2183	B1AQK7;B1AQK6	.;.	S	2185;1379;2183;2184;2186	ENSP00000360423:G2185S;ENSP00000277549:G1379S;ENSP00000360414:G2183S;ENSP00000360408:G2184S;ENSP00000360406:G2186S	ENSP00000277549:G1379S	G	+	1	0	CACNA1B	140135805	1.000000	0.71417	0.095000	0.20976	0.270000	0.26580	3.061000	0.49963	0.132000	0.18615	0.561000	0.74099	GGT		0.617	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		A	141015984	G	A	141015984	3	1	173	1	0	0	0	0	1	0	0	0	2541	1116	39	1	6735	1	CACNA1B	9	141015984	Missense_Mutation	SNP	G	TCGA-B0-5081-01A-01D-1462-08	27750535	141015984	197447	26	10024											
KIAA1462	57608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	30316404	30316404	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr10:30316404C>A	ENST00000375377.1	-	3	2774	c.2673G>T	c.(2671-2673)gaG>gaT	p.E891D		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	891					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.E891D(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCGGCTGTGGCTCAACCCTCA	0.627																																																1	Substitution - Missense(1)	kidney(1)											62	68	66					10																	30316404		2112	4223	6335	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2673G>T	10.37:g.30316404C>A	ENSP00000364526:p.Glu891Asp		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900188	0.33535	.	.	ENSG00000165757	ENST00000375377	T	0.13089	2.62	5.04	4.12	0.48240	.	0.868989	0.10389	N	0.680624	T	0.13030	0.0316	L	0.43152	1.355	0.09310	N	1	P	0.42518	0.782	B	0.43536	0.423	T	0.20505	-1.0273	10	0.26408	T	0.33	-4.2652	3.6098	0.08055	0.2111:0.5619:0.1346:0.0924	.	891	Q9P266	K1462_HUMAN	D	891	ENSP00000364526:E891D	ENSP00000364526:E891D	E	-	3	2	KIAA1462	30356410	0.002000	0.14202	0.007000	0.13788	0.008000	0.06430	0.237000	0.17985	1.106000	0.41623	0.655000	0.94253	GAG		0.627	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		A	30316404	C	A	30316404	3	1	173	1	0	0	0	0	1	0	0	0	8236	796	28	4	1414	4	KIAA1462	10	30316404	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08		30316404	105218343	27	10025											
USP47	55031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	11964635	11964635	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr11:11964635G>A	ENST00000399455.2	+	21	3247	c.3127G>A	c.(3127-3129)Gaa>Aaa	p.E1043K	USP47_ENST00000527733.1_Missense_Mutation_p.E1023K|USP47_ENST00000339865.5_Missense_Mutation_p.E955K|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1043					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.E955K(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGCTGCAGATGAAGGTTCTGG	0.373																																																1	Substitution - Missense(1)	kidney(1)											94	87	89					11																	11964635		1896	4112	6008	SO:0001583	missense	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3127G>A	11.37:g.11964635G>A	ENSP00000382382:p.Glu1043Lys		B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37		.	.	.	.	.	.	.	.	.	.	G	15.21	2.765739	0.49574	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.04502	3.61;3.61;3.61	5.76	5.76	0.90799	.	0.184208	0.64402	D	0.000019	T	0.03136	0.0092	N	0.08118	0	0.80722	D	1	B;B;B	0.27498	0.18;0.079;0.13	B;B;B	0.19391	0.016;0.011;0.025	T	0.48603	-0.9021	10	0.07325	T	0.83	.	19.5491	0.95310	0.0:0.0:1.0:0.0	.	1043;1023;955	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	K	955;1023;1043	ENSP00000339957:E955K;ENSP00000433146:E1023K;ENSP00000382382:E1043K	ENSP00000339957:E955K	E	+	1	0	USP47	11921211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.728000	0.93425	0.467000	0.42956	GAA		0.373	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		A	11964635	G	A	11964635	3	1	173	1	0	0	0	0	1	0	0	0	17083	1291	45	2	2937	2	USP47	11	11964635	Missense_Mutation	SNP	G	TCGA-B0-5081-01A-01D-1462-08		11964635	123041881	28	10026											
OR8J3	81168	broad.mit.edu	37	11	55904779	55904779	+	Missense_Mutation	SNP	C	C	A	rs373232843		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr11:55904779C>A	ENST00000301529.1	-	1	415	c.416G>T	c.(415-417)cGg>cTg	p.R139L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139L(1)|p.R139Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGGCAGAGCCGCCGAGACAC	0.473																																																2	Substitution - Missense(2)	kidney(2)											111	107	109					11																	55904779		2201	4296	6497	SO:0001583	missense	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.416G>T	11.37:g.55904779C>A	ENSP00000301529:p.Arg139Leu		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512399	0.64522	.	.	ENSG00000167822	ENST00000301529	T	0.41758	0.99	3.26	-2.86	0.05717	GPCR, rhodopsin-like superfamily (1);	1.003870	0.08023	N	0.992227	T	0.50188	0.1601	M	0.78801	2.425	0.09310	N	1	P	0.36162	0.54	P	0.44860	0.462	T	0.57154	-0.7860	10	0.59425	D	0.04	.	9.911	0.41406	0.0:0.4758:0.0:0.5242	.	139	Q8NGG0	OR8J3_HUMAN	L	139	ENSP00000301529:R139L	ENSP00000301529:R139L	R	-	2	0	OR8J3	55661355	0.000000	0.05858	0.000000	0.03702	0.705000	0.40729	-1.311000	0.02723	-0.450000	0.07107	0.289000	0.19496	CGG		0.473	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		A	55904779	C	A	55904779	3	1	173	1	0	0	0	0	1	0	0	0	11244	652	23	4	533	4	OR8J3	11	55904779	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08	43940144	55904779	79101737	29	10027											
MRGPRD	116512	broad.mit.edu	37	11	68748065	68748065	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr11:68748065T>C	ENST00000309106.3	-	1	390	c.391A>G	c.(391-393)Atc>Gtc	p.I131V		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	131						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I131V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTGAACCAGATAGGGAAGAGG	0.582																																																1	Substitution - Missense(1)	kidney(1)											65	58	61					11																	68748065		2200	4294	6494	SO:0001583	missense	116512			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"GPCR / Class A : Orphans"	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.391A>G	11.37:g.68748065T>C	ENSP00000310631:p.Ile131Val		Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	T	6.384	0.439034	0.12104	.	.	ENSG00000172938	ENST00000309106	T	0.37058	1.22	4.87	-2.58	0.06228	GPCR, rhodopsin-like superfamily (1);	0.506034	0.16210	U	0.224518	T	0.30665	0.0772	L	0.52206	1.635	0.25239	N	0.989762	B	0.27910	0.193	B	0.40659	0.336	T	0.43147	-0.9409	10	0.13853	T	0.58	-21.387	6.0572	0.19819	0.0:0.3654:0.1334:0.5012	.	131	Q8TDS7	MRGRD_HUMAN	V	131	ENSP00000310631:I131V	ENSP00000310631:I131V	I	-	1	0	MRGPRD	68504641	0.000000	0.05858	0.055000	0.19348	0.033000	0.12548	-4.589000	0.00211	-0.412000	0.07519	0.377000	0.23210	ATC		0.582	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		C	68748065	T	C	68748065	3	2	173	1	0	0	0	0	1	0	0	0	9765	1406	49	3	577	3	MRGPRD	11	68748065	Missense_Mutation	SNP	T	TCGA-B0-5081-01A-01D-1462-08	12843286	68748065	66258451	30	10028											
OR8B8	26493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124310503	124310503	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr11:124310503G>T	ENST00000328064.2	-	1	551	c.479C>A	c.(478-480)aCa>aAa	p.T160K		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	160					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)	p.T160K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CATGCACGCTGTGTGGGCCAT	0.517																																																1	Substitution - Missense(1)	kidney(1)											128	110	116					11																	124310503		2201	4299	6500	SO:0001583	missense	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.479C>A	11.37:g.124310503G>T	ENSP00000330280:p.Thr160Lys		A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858799	0.32884	.	.	ENSG00000197125	ENST00000328064	T	0.00274	8.35	3.52	1.66	0.24008	GPCR, rhodopsin-like superfamily (1);	0.264468	0.26627	N	0.023329	T	0.00845	0.0028	H	0.96943	3.91	0.18873	N	0.999985	D	0.60575	0.988	D	0.67103	0.949	T	0.29912	-0.9996	10	0.87932	D	0	.	7.382	0.26862	0.2856:0.0:0.7144:0.0	.	160	Q15620	OR8B8_HUMAN	K	160	ENSP00000330280:T160K	ENSP00000330280:T160K	T	-	2	0	OR8B8	123815713	0.001000	0.12720	0.402000	0.26371	0.506000	0.33950	1.116000	0.31221	0.488000	0.27723	0.557000	0.71058	ACA		0.517	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		T	124310503	G	T	124310503	3	4	173	1	0	0	0	0	1	0	0	0	11232	1377	48	4	459	4	OR8B8	11	124310503	Missense_Mutation	SNP	G	TCGA-B0-5081-01A-01D-1462-08	55562438	124310503	10696013	31	10029											
CSAD	51380	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53566220	53566220	+	Splice_Site	SNP	C	C	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr12:53566220C>T	ENST00000444623.1	-	6	521	c.254G>A	c.(253-255)gGt>gAt	p.G85D	CSAD_ENST00000453446.2_Splice_Site_p.G85D|CSAD_ENST00000542115.1_Splice_Site_p.G85D|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000267085.4_Splice_Site_p.G112D|CSAD_ENST00000379843.3_Intron	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	85					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.G85D(1)|p.G112D(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CCGAGGGTGACCTGGAGAAGG	0.577																																					Ovarian(109;252 1546 16882 28524 44645)											2	Substitution - Missense(2)	kidney(2)											88	94	92					12																	53566220		2203	4300	6503	SO:0001630	splice_region_variant	51380			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.254-1G>A	12.37:g.53566220C>T			A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.215314|4.215314	0.79352|0.79352	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000542115;ENST00000437073;ENST00000424990|ENST00000379850	T;T;T;T;T;T|.	0.39229|.	1.09;1.09;1.09;1.09;1.09;1.09|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.202212|.	0.53938|.	D|.	0.000054|.	T|.	0.72827|.	0.3509|.	M|M	0.62154|0.62154	1.92|1.92	0.58432|0.58432	D|D	0.999997|0.999997	B;B;B|.	0.19073|.	0.029;0.033;0.022|.	B;B;B|.	0.25884|.	0.064;0.062;0.064|.	T|.	0.71227|.	-0.4655|.	10|.	0.52906|.	T|.	0.07|.	.|.	17.6754|17.6754	0.88229|0.88229	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	85;112;85|.	B4DL84;Q9Y600-3;Q9Y600|.	.;.;CSAD_HUMAN|.	D|X	174;112;85;85;85;85;85;85;85|110	ENSP00000267085:G112D;ENSP00000415485:G85D;ENSP00000410648:G85D;ENSP00000439419:G85D;ENSP00000415314:G85D;ENSP00000401078:G85D|.	ENSP00000267085:G112D|.	G|W	-|-	2|3	0|0	CSAD|CSAD	51852487|51852487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	1.976000|1.976000	0.40579|0.40579	2.557000|2.557000	0.86248|0.86248	0.555000|0.555000	0.69702|0.69702	GGT|TGG		0.577	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989	Missense_Mutation	T	53566220	C	T	53566220	5	4	173	1	0	0	0	0	0	0	1	0	3927	521	18	2	1275	2	CSAD	12	53566220	Splice_Site	SNP	C	TCGA-B0-5081-01A-01D-1462-08		53566220	80285675	32	10030											
MMAB	326625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	110006594	110006594	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr12:110006594C>T	ENST00000545712.2	-	3	664	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	MMAB_ENST00000266839.5_5'UTR|RNU4-32P_ENST00000363404.1_RNA|MMAB_ENST00000540016.1_Intron	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	91					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)	p.E91K(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAACTTAATTCATCTGTAGTT	0.453																																																1	Substitution - Missense(1)	kidney(1)											173	147	156					12																	110006594		2203	4300	6503	SO:0001583	missense	326625			AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.271G>A	12.37:g.110006594C>T	ENSP00000445920:p.Glu91Lys		C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230305	0.95207	.	.	ENSG00000139428	ENST00000545712;ENST00000542390	D	0.97041	-4.22	4.91	4.91	0.64330	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98552	1.0637	10	0.87932	D	0	-28.5676	17.1622	0.86806	0.0:1.0:0.0:0.0	.	91	Q96EY8	MMAB_HUMAN	K	91	ENSP00000445920:E91K	ENSP00000444793:E91K	E	-	1	0	MMAB	108490977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.886000	0.75611	2.703000	0.92315	0.555000	0.69702	GAA		0.453	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			T	110006594	C	T	110006594	3	4	173	1	0	0	0	0	1	0	0	0	9642	835	29	2	509	2	MMAB	12	110006594	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08	56440374	110006594	23845301	33	10031											
NIPA1	123606	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	23048907	23048907	+	Silent	SNP	C	C	G			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr15:23048907C>G	ENST00000337435.4	-	5	936	c.912G>C	c.(910-912)ggG>ggC	p.G304G	NIPA1_ENST00000437912.2_Silent_p.G229G|NIPA1_ENST00000538684.1_Silent_p.G134G|NIPA1_ENST00000561183.1_Silent_p.G229G	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	304					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.G304G(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TAAGGACAATCCCCACGGAGA	0.507																																																1	Substitution - coding silent(1)	kidney(1)											91	85	87					15																	23048907		2203	4300	6503	SO:0001819	synonymous_variant	123606			BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"spastic paraplegia 6 (autosomal dominant)"	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.912G>C	15.37:g.23048907C>G			B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Silent	SNP	ENST00000337435.4	37	CCDS10011.1																																																																																				0.507	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		G	23048907	C	G	23048907	2	3	173	1	0	0	0	0	0	0	0	1	10424	842	30	4		4	NIPA1	15	23048907	Silent	SNP	C	TCGA-B0-5081-01A-01D-1462-08		23048907	79482485	34	10032											
PLA2G4E	123745	hgsc.bcm.edu	37	15	42293414	42293414	+	Missense_Mutation	SNP	C	C	T	rs189961279		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr15:42293414C>T	ENST00000399518.3	-	7	1100	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R176Q|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	196					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.R176Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGAGACTTGTCGAGACTGTAA	0.537													c|||	1	0.000199681	0.0	0.0014	5008	,	,		21663	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											73	78	77					15																	42293414		1957	4159	6116	SO:0001583	missense	123745				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.614G>A	15.37:g.42293414C>T	ENSP00000382434:p.Arg205Gln		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	CCDS55962.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	21.1	4.091080	0.76756	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.01548	4.88;4.78	5.34	5.34	0.76211	.	0.334743	0.20358	U	0.093917	T	0.06325	0.0163	M	0.82823	2.61	0.26811	N	0.969005	D	0.55172	0.97	P	0.46629	0.522	T	0.06899	-1.0801	10	0.66056	D	0.02	-19.2421	15.9723	0.80031	0.0:1.0:0.0:0.0	.	176	C9JK77	.	Q	205;176	ENSP00000382434:R205Q;ENSP00000413897:R176Q	ENSP00000382434:R205Q	R	-	2	0	PLA2G4E	40080706	0.996000	0.38824	0.998000	0.56505	0.994000	0.84299	4.303000	0.59098	2.498000	0.84270	0.651000	0.88453	CGA		0.537	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		T	42293414	C	T	42293414	3	4	173	1	0	0	0	0	1	0	0	0	12007	884	31	1	2048	1	PLA2G4E	15	42293414	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08	19244507	42293414	60237978	35	10033											
RHOT2	89941	broad.mit.edu	37	16	720686	720686	+	Silent	SNP	G	G	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr16:720686G>A	ENST00000315082.4	+	9	666	c.552G>A	c.(550-552)gcG>gcA	p.A184A	RHOT2_ENST00000569943.2_Intron	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	184	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A184A(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TGAGGCCCGCGTGCGCCCAGG	0.682																																																1	Substitution - coding silent(1)	kidney(1)											58	69	65					16																	720686		2200	4295	6495	SO:0001819	synonymous_variant	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.552G>A	16.37:g.720686G>A			A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	CCDS10417.1																																																																																				0.682	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		A	720686	G	A	720686	2	1	173	1	0	0	0	0	0	0	0	1	13350	1132	40	1		1	RHOT2	16	720686	Silent	SNP	G	TCGA-B0-5081-01A-01D-1462-08		720686	89634067	36	10034											
NPW	283869	broad.mit.edu	37	16	2070178	2070178	+	Silent	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr16:2070178C>A	ENST00000566435.1	+	1	633	c.120C>A	c.(118-120)ccC>ccA	p.P40P	NPW_ENST00000329610.4_Silent_p.P92P			Q8N729	NPW_HUMAN	neuropeptide W	92					feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.P92P(1)		kidney(1)	1						TCCTGCTGCCCTCGTGGGTTC	0.771																																																1	Substitution - coding silent(1)	kidney(1)											8	8	8					16																	2070178		1527	3503	5030	SO:0001819	synonymous_variant	283869			AB084276	CCDS42102.1	16p13.3	2013-02-26			ENSG00000183971	ENSG00000183971		"Endogenous ligands"	30509	protein-coding gene	gene with protein product	"prepro-neuropeptide W"	607997				12118011, 12401809	Standard	NM_001099456		Approved	PPL8	uc002coh.4	Q8N729	OTTHUMG00000176914	ENST00000566435.1:c.120C>A	16.37:g.2070178C>A				Silent	SNP	ENST00000566435.1	37																																																																																					0.771	NPW-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000434312.1	NM_001099456		A	2070178	C	A	2070178	2	1	173	1	0	0	0	0	0	0	0	1	10608	668	24	4		4	NPW	16	2070178	Silent	SNP	C	TCGA-B0-5081-01A-01D-1462-08	1349492	2070178	88284575	37	10035											
ZNF668	79759	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31073518	31073518	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr16:31073518C>T	ENST00000538906.1	-	3	1515	c.731G>A	c.(730-732)cGc>cAc	p.R244H	ZNF668_ENST00000426488.2_Missense_Mutation_p.R267H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R244H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R244H|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000539836.3_Missense_Mutation_p.R267H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R244H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R244H(1)|p.R267H(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGCGTGGATGCGCTGGTGGCA	0.697																																					Colon(181;1111 1980 5060 10512 25785)											2	Substitution - Missense(2)	kidney(2)											33	36	35					16																	31073518		2197	4299	6496	SO:0001583	missense	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.731G>A	16.37:g.31073518C>T	ENSP00000440149:p.Arg244His		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092400	0.94149	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.58092	-0.7697	10	0.87932	D	0	-37.4833	17.2644	0.87081	0.0:1.0:0.0:0.0	.	244	Q96K58	ZN668_HUMAN	H	267;244;244;244;244	ENSP00000442573:R267H;ENSP00000441349:R244H;ENSP00000440149:R244H;ENSP00000378434:R244H;ENSP00000300849:R244H	ENSP00000300849:R244H	R	-	2	0	ZNF668	30981019	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.953000	0.56699	2.584000	0.87258	0.655000	0.94253	CGC		0.697	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		T	31073518	C	T	31073518	3	4	173	1	0	0	0	0	1	0	0	0	18080	768	27	1	1132	1	ZNF668	16	31073518	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08	29003340	31073518	59281235	38	10036											
EDC4	23644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67909957	67909957	+	Silent	SNP	T	T	A	rs544508740	byFrequency	TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr16:67909957T>A	ENST00000358933.5	+	2	431	c.192T>A	c.(190-192)acT>acA	p.T64T	AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	64					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T64T(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CAAACAAGACTGGTCTTCGGA	0.537																																																2	Substitution - coding silent(2)	kidney(1)|endometrium(1)											125	107	113					16																	67909957		2198	4300	6498	SO:0001819	synonymous_variant	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.192T>A	16.37:g.67909957T>A			A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	CCDS10849.1																																																																																				0.537	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		A	67909957	T	A	67909957	2	1	173	1	0	0	0	0	0	0	0	1	4910	1567	55	5		5	EDC4	16	67909957	Silent	SNP	T	TCGA-B0-5081-01A-01D-1462-08	36836439	67909957	22444796	39	10037											
POLR2A	5430	hgsc.bcm.edu	37	17	7416613	7416613	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr17:7416613G>A	ENST00000322644.6	+	29	5429	c.5030G>A	c.(5029-5031)aGc>aAc	p.S1677N		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1677	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.S1677N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				acctctcccagctactcaccc	0.612																																																1	Substitution - Missense(1)	kidney(1)											296	254	268					17																	7416613		2201	4292	6493	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5030G>A	17.37:g.7416613G>A	ENSP00000314949:p.Ser1677Asn		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	3.526	-0.096765	0.07010	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.72051	-0.62	3.22	2.24	0.28232	.	0.474846	0.15219	U	0.274033	T	0.67258	0.2874	L	0.41356	1.27	0.80722	D	1	B	0.34313	0.448	P	0.46452	0.517	T	0.56366	-0.7991	10	0.19590	T	0.45	-13.9104	9.5717	0.39431	0.1096:0.0:0.8904:0.0	.	1677	P24928	RPB1_HUMAN	N	1633;576;1677	ENSP00000314949:S1677N	ENSP00000314949:S1677N	S	+	2	0	SLC35G6	7357337	1.000000	0.71417	0.424000	0.26647	0.340000	0.28889	3.221000	0.51215	0.706000	0.31912	0.456000	0.33151	AGC		0.612	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		A	7416613	G	A	7416613	3	1	173	1	0	0	0	0	1	0	0	0	12216	971	34	2	5144	2	POLR2A	17	7416613	Missense_Mutation	SNP	G	TCGA-B0-5081-01A-01D-1462-08		7416613	73778597	40	10038											
LLGL1	3996	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18137246	18137246	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr17:18137246C>T	ENST00000316843.4	+	5	643	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	183					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.R183C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGAGGTTCTGCGCAGGTAAGA	0.642																																																1	Substitution - Missense(1)	kidney(1)											46	48	47					17																	18137246		2203	4300	6503	SO:0001583	missense	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.547C>T	17.37:g.18137246C>T	ENSP00000321537:p.Arg183Cys		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809850	0.50421	.	.	ENSG00000131899	ENST00000316843	T	0.05199	3.48	5.87	3.91	0.45181	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.657156	0.16472	N	0.212931	T	0.04048	0.0113	N	0.14661	0.345	0.42217	D	0.991836	P	0.47762	0.9	B	0.39299	0.296	T	0.50566	-0.8813	10	0.72032	D	0.01	-8.9637	7.2426	0.26104	0.1373:0.7219:0.0:0.1408	.	183	Q15334	L2GL1_HUMAN	C	183	ENSP00000321537:R183C	ENSP00000321537:R183C	R	+	1	0	LLGL1	18077971	0.999000	0.42202	1.000000	0.80357	0.681000	0.39784	1.973000	0.40550	0.858000	0.35431	-0.145000	0.13849	CGC		0.642	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			T	18137246	C	T	18137246	3	4	173	1	0	0	0	0	1	0	0	0	8835	768	27	1	565	1	LLGL1	17	18137246	Missense_Mutation	SNP	C	TCGA-B0-5081-01A-01D-1462-08	10720633	18137246	63057964	41	10039											
C18orf34	374864	broad.mit.edu;hgsc.bcm.edu	37	18	30795588	30795588	+	Silent	SNP	T	T	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr18:30795588T>A	ENST00000383096.3	-	19	2186	c.2004A>T	c.(2002-2004)atA>atT	p.I668I	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Silent_p.I668I|CCDC178_ENST00000300227.8_Silent_p.I630I|CCDC178_ENST00000403303.1_Silent_p.I668I|CCDC178_ENST00000579947.1_Silent_p.I668I|CCDC178_ENST00000583930.1_Silent_p.I668I|CCDC178_ENST00000406524.2_Silent_p.I668I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	668								p.I630I(1)|p.I668I(1)									TCAATTCATTTATTTTTGCAT	0.244																																																2	Substitution - coding silent(2)	kidney(2)											28	31	30					18																	30795588		2160	4275	6435	SO:0001819	synonymous_variant	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2004A>T	18.37:g.30795588T>A			A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	CCDS42424.1																																																																																				0.244	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		A	30795588	T	A	30795588	2	1	173	1	0	0	0	0	0	0	0	1	1904	1744	61	5		5	C18orf34	18	30795588	Silent	SNP	T	TCGA-B0-5081-01A-01D-1462-08		30795588	47281660	42	10040											
IDH3B	3420	broad.mit.edu	37	20	2644813	2644813	+	Missense_Mutation	SNP	G	G	A	rs554271438		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr20:2644813G>A	ENST00000380843.4	-	1	52	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Missense_Mutation_p.R8C|RP4-686C3.7_ENST00000418739.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	8					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R8C(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						GTCAGCCAGCGGACTCCGCTC	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15199	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											18	21	20					20																	2644813		2203	4300	6503	SO:0001583	missense	3420				CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.22C>T	20.37:g.2644813G>A	ENSP00000370223:p.Arg8Cys		B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861532	0.71949	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000341825	T;T	0.52057	0.69;0.68	4.71	4.71	0.59529	.	0.170446	0.48767	D	0.000168	T	0.47820	0.1466	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.973	T	0.57329	-0.7830	10	0.87932	D	0	-6.3012	13.337	0.60522	0.0:0.0:1.0:0.0	.	8;8	O43837-2;O43837	.;IDH3B_HUMAN	C	8	ENSP00000370232:R8C;ENSP00000370223:R8C	ENSP00000343215:R8C	R	-	1	0	IDH3B	2592813	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.147000	0.58078	2.599000	0.87857	0.655000	0.94253	CGC		0.647	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			A	2644813	G	A	2644813	3	1	173	1	0	0	0	0	1	0	0	0	7499	1116	39	1	1343	1	IDH3B	20	2644813	Missense_Mutation	SNP	G	TCGA-B0-5081-01A-01D-1462-08		2644813	60380707	43	10041											
ARSF	416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	2990179	2990179	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chrX:2990179A>T	ENST00000381127.1	+	3	345	c.124A>T	c.(124-126)Att>Ttt	p.I42F	ARSF_ENST00000537104.1_Missense_Mutation_p.I42F|ARSF_ENST00000359361.2_Missense_Mutation_p.I42F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	42					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.I42F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGACCTGGGTATTGGAGATCT	0.507																																																1	Substitution - Missense(1)	kidney(1)											214	177	190					X																	2990179		2203	4300	6503	SO:0001583	missense	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.124A>T	X.37:g.2990179A>T	ENSP00000370519:p.Ile42Phe		Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	a	13.78	2.339555	0.41398	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.93076	-3.16;-3.16;-3.16	2.46	2.46	0.29980	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.94321	0.8175	M	0.69523	2.12	0.52099	D	0.999944	P	0.46277	0.875	P	0.55871	0.786	D	0.92615	0.6103	10	0.44086	T	0.13	.	9.9827	0.41824	1.0:0.0:0.0:0.0	.	42	P54793	ARSF_HUMAN	F	42	ENSP00000370519:I42F;ENSP00000445594:I42F;ENSP00000352319:I42F	ENSP00000352319:I42F	I	+	1	0	ARSF	3000179	0.988000	0.35896	0.003000	0.11579	0.135000	0.20990	2.930000	0.48924	0.805000	0.34159	0.339000	0.21740	ATT		0.507	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			T	2990179	A	T	2990179	3	4	173	1	0	0	0	0	1	0	0	0	991	449	16	5	130	5	ARSF	23	2990179	Missense_Mutation	SNP	A	TCGA-B0-5081-01A-01D-1462-08		2990179	152280381	44	10042											
DMD	1756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	31187596	31187596	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chrX:31187596A>T	ENST00000357033.4	-	74	10723	c.10517T>A	c.(10516-10518)cTa>cAa	p.L3506Q	DMD_ENST00000378723.3_Missense_Mutation_p.L438Q|DMD_ENST00000361471.4_Missense_Mutation_p.L425Q|DMD_ENST00000378677.2_Missense_Mutation_p.L3502Q|DMD_ENST00000378702.4_Missense_Mutation_p.L438Q|DMD_ENST00000378680.2_Intron|DMD_ENST00000343523.2_Intron|DMD_ENST00000541735.1_Intron|DMD_ENST00000474231.1_Missense_Mutation_p.L1046Q|DMD_ENST00000378707.3_Missense_Mutation_p.L1046Q|DMD_ENST00000359836.1_Missense_Mutation_p.L1033Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3506	Binds to SNTB1.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L3502Q(1)|p.L2165Q(1)|p.L1046Q(1)|p.L3506Q(1)|p.L438Q(1)|p.L3501Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GATTCTCTCTAGCTCCCCTCT	0.468																																																6	Substitution - Missense(6)	kidney(6)											63	56	59					X																	31187596		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10517T>A	X.37:g.31187596A>T	ENSP00000354923:p.Leu3506Gln		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499814	0.85176	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000378702;ENST00000474231;ENST00000361471	D;D;D;D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.1	5.1	0.69264	.	0.000000	0.28533	U	0.015020	D	0.95182	0.8438	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.997;1.0;0.989;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.995;0.998;0.998;0.998;0.998;0.999;0.995;0.995;0.999;0.994;0.999;0.927;0.997	D	0.95783	0.8818	9	.	.	.	.	14.0626	0.64808	1.0:0.0:0.0:0.0	.	3498;3506;3502;2165;2162;1033;1046;1046;3383;425;438;425;438	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.	Q	3498;2165;2162;438;1189;3502;3506;1033;3506;3383;1046;438;1046;425	ENSP00000367997:L438Q;ENSP00000350765:L1189Q;ENSP00000367948:L3502Q;ENSP00000354923:L3506Q;ENSP00000352894:L1033Q;ENSP00000367979:L1046Q;ENSP00000367974:L438Q;ENSP00000417123:L1046Q;ENSP00000354464:L425Q	.	L	-	2	0	DMD	31097517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	1.896000	0.54893	0.481000	0.45027	CTA		0.468	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	31187596	A	T	31187596	3	4	173	1	0	0	0	0	1	0	0	0	4582	420	15	5	650	5	DMD	23	31187596	Missense_Mutation	SNP	A	TCGA-B0-5081-01A-01D-1462-08	28197417	31187596	124082964	45	10043											
NOX1	27035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	100117451	100117451	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chrX:100117451A>C	ENST00000372966.3	-	6	806	c.601T>G	c.(601-603)Ttt>Gtt	p.F201V	NOX1_ENST00000217885.5_Missense_Mutation_p.F201V|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.F164V	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	201	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.F201V(1)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						AAGACTTCAAAATAACTCCTC	0.443																																																1	Substitution - Missense(1)	kidney(1)											177	171	173					X																	100117451		2203	4299	6502	SO:0001583	missense	27035			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.601T>G	X.37:g.100117451A>C	ENSP00000362057:p.Phe201Val		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595120	0.66219	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.91740	-2.9;-2.9;-2.9	4.34	4.34	0.51931	Flavoprotein transmembrane component (1);	0.058807	0.64402	D	0.000002	D	0.97158	0.9071	H	0.96576	3.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.991;0.994	D	0.97702	1.0185	10	0.72032	D	0.01	-4.6447	11.7865	0.52045	1.0:0.0:0.0:0.0	.	164;201;201	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	V	201;201;164	ENSP00000362057:F201V;ENSP00000217885:F201V;ENSP00000362051:F164V	ENSP00000217885:F201V	F	-	1	0	NOX1	100004107	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	8.157000	0.89647	1.726000	0.51525	0.486000	0.48141	TTT		0.443	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		C	100117451	A	C	100117451	3	2	173	1	0	0	0	0	1	0	0	0	10558	14	1	5	1125	5	NOX1	23	100117451	Missense_Mutation	SNP	A	TCGA-B0-5081-01A-01D-1462-08	68929855	100117451	55153109	46	10044											
VPS13D	55187	broad.mit.edu	37	1	12381877	12381877	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:12381877C>T	ENST00000358136.3	+	33	7690	c.7560C>T	c.(7558-7560)tgC>tgT	p.C2520C	VPS13D_ENST00000356315.4_Silent_p.C2520C	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTTTTCATGCCGACTAGGGA	0.408																																																0													105	99	101					1																	12381877		2203	4300	6503	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7560C>T	1.37:g.12381877C>T				Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	6.298	0.423130	0.11928	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.14	3.2	0.36748	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52056	-0.8626	4	.	.	.	.	8.4882	0.33084	0.0:0.6124:0.0:0.3876	.	.	.	.	V	1343	.	.	A	+	2	0	VPS13D	12304464	0.999000	0.42202	1.000000	0.80357	0.689000	0.40095	0.616000	0.24344	0.616000	0.30141	-0.339000	0.08088	GCC		0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12381877	C	T	12381877	2	4	174	1	0	0	0	0	0	0	0	1	17197	747	26	2		2	VPS13D	1	12381877	Silent	SNP	C	TCGA-B0-5083-01A-02D-1421-08		12381877	236868744	1	10045											
CNR2	1269	broad.mit.edu	37	1	24202093	24202093	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:24202093C>A	ENST00000374472.4	-	2	176	c.15G>T	c.(13-15)tgG>tgT	p.W5C	CNR2_ENST00000536471.1_Missense_Mutation_p.W5C	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	5					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TCTCTGTCACCCAGCATTCCT	0.473																																																0													95	102	99					1																	24202093		2201	4299	6500	SO:0001583	missense	1269			X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.15G>T	1.37:g.24202093C>A	ENSP00000363596:p.Trp5Cys		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	CCDS245.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932047	0.34096	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.77750	-1.12;-1.12	6.04	4.12	0.48240	.	1.002150	0.08048	N	0.996238	T	0.68146	0.2969	N	0.08118	0	0.18873	N	0.999985	P	0.40144	0.704	P	0.45913	0.497	T	0.59830	-0.7380	10	0.66056	D	0.02	.	9.4925	0.38969	0.0:0.8276:0.0:0.1724	.	5	P34972	CNR2_HUMAN	C	5	ENSP00000363596:W5C;ENSP00000442830:W5C	ENSP00000363596:W5C	W	-	3	0	CNR2	24074680	0.000000	0.05858	0.001000	0.08648	0.855000	0.48748	0.125000	0.15749	0.818000	0.34468	0.561000	0.74099	TGG		0.473	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		A	24202093	C	A	24202093	3	1	174	1	0	0	0	0	1	0	0	0	3634	624	22	4	1071	4	CNR2	1	24202093	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	11820216	24202093	225048528	2	10046											
SPAG17	200162	broad.mit.edu	37	1	118624114	118624114	+	Silent	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:118624114G>A	ENST00000336338.5	-	14	1979	c.1914C>T	c.(1912-1914)aaC>aaT	p.N638N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	638						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATCTGGCAGGGTTGTCCCACG	0.448																																																0													192	180	184					1																	118624114		2203	4300	6503	SO:0001819	synonymous_variant	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1914C>T	1.37:g.118624114G>A			Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	CCDS899.1																																																																																				0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118624114	G	A	118624114	2	1	174	1	0	0	0	0	0	0	0	1	14985	1252	44	2		2	SPAG17	1	118624114	Silent	SNP	G	TCGA-B0-5083-01A-02D-1421-08	94422021	118624114	130626507	3	10047											
LCE1B	353132	broad.mit.edu	37	1	152785009	152785009	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:152785009C>T	ENST00000360090.3	+	1	563	c.87C>T	c.(85-87)tgC>tgT	p.C29C		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	29	Pro-rich.				keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCTAGATGCCCCCCAAAGT	0.632																																																0													96	99	98					1																	152785009		2203	4300	6503	SO:0001819	synonymous_variant	353132			BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"Late cornified envelopes"	16611	protein-coding gene	gene with protein product		612604	"small proline rich-like (epidermal differentiation complex) 2A"	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.87C>T	1.37:g.152785009C>T			A4IF40	Silent	SNP	ENST00000360090.3	37	CCDS1027.1																																																																																				0.632	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		T	152785009	C	T	152785009	2	4	174	1	0	0	0	0	0	0	0	1	8662	747	26	2		2	LCE1B	1	152785009	Silent	SNP	C	TCGA-B0-5083-01A-02D-1421-08	34160895	152785009	96465612	4	10048											
PPOX	5498	broad.mit.edu	37	1	161140729	161140729	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:161140729G>A	ENST00000367999.4	+	12	1547	c.1281G>A	c.(1279-1281)tgG>tgA	p.W427*	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Nonsense_Mutation_p.W135*|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Nonsense_Mutation_p.W427*|PPOX_ENST00000495483.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	427					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)	p.W427*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TAGGTCACTGGCAAAAACTAG	0.478																																																1	Substitution - Nonsense(1)	urinary_tract(1)	GRCh37	CM992420	PPOX	M							124	127	126					1																	161140729		2203	4300	6503	SO:0001587	stop_gained	5498			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1281G>A	1.37:g.161140729G>A	ENSP00000356978:p.Trp427*		D3DVG0|Q5VTW8	Nonsense_Mutation	SNP	ENST00000367999.4	37	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.724771|5.724771	0.96847|0.96847	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000544598;ENST00000435935	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.186752	.|0.49916	.|D	.|0.000129	T|.	0.67468|.	0.2896|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.63457|.	-0.6633|.	4|.	.|0.36615	.|T	.|0.2	-12.9193|-12.9193	18.7782|18.7782	0.91920|0.91920	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	180;150|427;427;135;394	.|.	.|ENSP00000343943:W427X	G|W	+|+	2|3	0|0	PPOX|PPOX	159407353|159407353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.632000|3.632000	0.54287|0.54287	2.731000|2.731000	0.93534|0.93534	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.478	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		A	161140729	G	A	161140729	4	1	174	1	0	0	0	0	0	1	0	0	12353	1212	42	2	1323	2	PPOX	1	161140729	Nonsense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08	8355720	161140729	88109892	5	10049											
C1orf114	57821	broad.mit.edu	37	1	169390975	169390975	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:169390975C>G	ENST00000367806.3	-	3	846	c.694G>C	c.(694-696)Gac>Cac	p.D232H	CCDC181_ENST00000545005.1_Missense_Mutation_p.D232H|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.D232H	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	232						nucleus (GO:0005634)											CTGGCAATGTCTTGTAAATTC	0.408																																																0													113	113	113					1																	169390975		2203	4300	6503	SO:0001583	missense	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.694G>C	1.37:g.169390975C>G	ENSP00000356780:p.Asp232His		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.013142	0.75161	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.35421	1.31;1.31;1.31;1.44	5.31	5.31	0.75309	.	0.239575	0.43110	D	0.000611	T	0.55321	0.1913	M	0.72118	2.19	0.40302	D	0.978623	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.60052	-0.7338	9	0.87932	D	0	-17.669	18.9726	0.92721	0.0:1.0:0.0:0.0	.	232;232;232	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	H	232	ENSP00000356779:D232H;ENSP00000356780:D232H;ENSP00000442297:D232H;ENSP00000411000:D232H	ENSP00000356779:D232H	D	-	1	0	C1orf114	167657599	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.453000	0.73488	2.473000	0.83533	0.557000	0.71058	GAC		0.408	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		G	169390975	C	G	169390975	3	3	174	1	0	0	0	0	1	0	0	0	1989	913	32	4	848	4	C1orf114	1	169390975	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	8250246	169390975	79859646	6	10050											
GPR52	9293	broad.mit.edu	37	1	174417939	174417939	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:174417939C>T	ENST00000367685.2	+	1	728	c.690C>T	c.(688-690)tgC>tgT	p.C230C	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	230					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TCAAAATTTGCCGTCAGCACA	0.463																																					Ovarian(92;924 1390 1930 16467 40583)											0													198	183	188					1																	174417939		2203	4300	6503	SO:0001819	synonymous_variant	9293			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.690C>T	1.37:g.174417939C>T			O75654|Q4VBL6|Q6ISM0	Silent	SNP	ENST00000367685.2	37	CCDS30941.1																																																																																				0.463	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		T	174417939	C	T	174417939	2	4	174	1	0	0	0	0	0	0	0	1	6700	747	26	2		2	GPR52	1	174417939	Silent	SNP	C	TCGA-B0-5083-01A-02D-1421-08	5026964	174417939	74832682	7	10051											
C2orf86	51057	broad.mit.edu	37	2	63666932	63666932	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr2:63666932C>T	ENST00000272321.7	-	7	985	c.458G>A	c.(457-459)aGa>aAa	p.R153K	WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Missense_Mutation_p.R153K|WDPCP_ENST00000398544.3_5'Flank	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	153					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CACCAGGCTTCTGTCAATCAC	0.498																																																0													137	135	135					2																	63666932		1957	4163	6120	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.458G>A	2.37:g.63666932C>T	ENSP00000272321:p.Arg153Lys		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093758	0.20471	.	.	ENSG00000143951	ENST00000272321;ENST00000409562	T;T	0.37752	1.18;1.18	5.48	4.6	0.57074	.	0.116345	0.53938	N	0.000056	T	0.24160	0.0585	L	0.27975	0.815	0.45995	D	0.998802	B;B	0.26002	0.037;0.139	B;B	0.28849	0.024;0.095	T	0.04781	-1.0927	10	0.02654	T	1	-6.0633	14.121	0.65186	0.0:0.9277:0.0:0.0723	.	153;153	O95876-2;O95876	.;FRITZ_HUMAN	K	153	ENSP00000272321:R153K;ENSP00000387222:R153K	ENSP00000272321:R153K	R	-	2	0	WDPCP	63520436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.965000	0.70387	1.308000	0.44962	0.655000	0.94253	AGA		0.498	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		T	63666932	C	T	63666932	3	4	174	1	0	0	0	0	1	0	0	0	2203	913	32	2	1856	2	C2orf86	2	63666932	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08		63666932	179532441	8	10052											
IL1R2	7850	broad.mit.edu	37	2	102636166	102636166	+	Missense_Mutation	SNP	G	G	A	rs201409941	byFrequency	TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr2:102636166G>A	ENST00000332549.3	+	5	809	c.580G>A	c.(580-582)Gta>Ata	p.V194I	IL1R2_ENST00000393414.2_Missense_Mutation_p.V194I|IL1R2_ENST00000441002.1_Missense_Mutation_p.V194I	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	194	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TCACTTACTCGTACACGATGT	0.423													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20881	0.0		0.0	False		,,,				2504	0.001				Pancreas(106;189 1628 2302 5133 12295)											0								G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	113	96	102		580,580	-0.8	0	2		102	0,8600		0,0,4300	no	missense,missense	IL1R2	NM_173343.1,NM_004633.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	194/399,194/399	102636166	1,13005	2203	4300	6503	SO:0001583	missense	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.580G>A	2.37:g.102636166G>A	ENSP00000330959:p.Val194Ile		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	CCDS2054.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.393	-0.339374	0.05243	2.27E-4	0.0	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	6.03	-0.772	0.10998	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.585102	0.17368	N	0.176784	T	0.35128	0.0921	N	0.03209	-0.39	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.32798	-0.9893	10	0.02654	T	1	.	5.6149	0.17426	0.5011:0.1421:0.3568:0.0	.	194	P27930	IL1R2_HUMAN	I	194	ENSP00000330959:V194I;ENSP00000377066:V194I;ENSP00000408415:V194I;ENSP00000414611:V194I	ENSP00000330959:V194I	V	+	1	0	IL1R2	102002598	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.128000	0.15810	-0.356000	0.08187	0.655000	0.94253	GTA		0.423	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		A	102636166	G	A	102636166	3	1	174	1	0	0	0	0	1	0	0	0	7661	1145	40	1	594	1	IL1R2	2	102636166	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08	38969234	102636166	140563207	9	10053											
WDR33	55339	broad.mit.edu	37	2	128471384	128471384	+	Silent	SNP	G	G	A	rs200529447		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr2:128471384G>A	ENST00000322313.4	-	18	3239	c.3081C>T	c.(3079-3081)caC>caT	p.H1027H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1027					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CACGTAACCGGTGGCCAAAGC	0.607																																																0													142	146	145					2																	128471384		2203	4300	6503	SO:0001819	synonymous_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3081C>T	2.37:g.128471384G>A			Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	CCDS2150.1																																																																																				0.607	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		A	128471384	G	A	128471384	2	1	174	1	0	0	0	0	0	0	0	1	17292	1252	44	2		2	WDR33	2	128471384	Silent	SNP	G	TCGA-B0-5083-01A-02D-1421-08	25835218	128471384	114727989	10	10054											
ARPP21	10777	broad.mit.edu	37	3	35763134	35763134	+	Nonsense_Mutation	SNP	C	C	T	rs545003470		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr3:35763134C>T	ENST00000187397.4	+	14	1489	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*	ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R291*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R291*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R311*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R311*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	345	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATCTGGGAGTCGACAGAGCAG	0.532																																																0													60	56	57					3																	35763134		2203	4300	6503	SO:0001587	stop_gained	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1033C>T	3.37:g.35763134C>T	ENSP00000187397:p.Arg345*		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.780295|7.780295	0.98486|0.98486	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925|ENST00000425289	.|T	.|0.55760	.|0.5	5.75|5.75	3.84|3.84	0.44239|0.44239	.|.	0.057880|.	0.64402|.	D|.	0.000002|.	.|T	.|0.66005	.|0.2746	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77230	.|-0.2664	.|5	0.02654|0.72032	T|D	1|0.01	-18.381|-18.381	14.5868|14.5868	0.68331|0.68331	0.2659:0.7341:0.0:0.0|0.2659:0.7341:0.0:0.0	.|.	.|.	.|.	.|.	X|L	311;291;291;345;311|117	.|ENSP00000408271:S117L	ENSP00000187397:R345X|ENSP00000408271:S117L	R|S	+|+	1|2	2|0	ARPP21|ARPP21	35738138|35738138	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.930000|0.930000	0.56654|0.56654	4.836000|4.836000	0.62789|0.62789	1.426000|1.426000	0.47256|0.47256	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.532	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		T	35763134	C	T	35763134	4	4	174	1	0	0	0	0	0	1	0	0	978	876	31	1	1092	1	ARPP21	3	35763134	Nonsense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08		35763134	162259296	11	10055											
PTPN23	25930	broad.mit.edu	37	3	47452810	47452810	+	Silent	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr3:47452810G>A	ENST00000265562.4	+	20	3599	c.3522G>A	c.(3520-3522)ttG>ttA	p.L1174L	PTPN23_ENST00000431726.1_Silent_p.L1048L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1174					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCGGCAGTTGCAGCAGGAGC	0.647																																																0													28	28	28					3																	47452810		2200	4295	6495	SO:0001819	synonymous_variant	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3522G>A	3.37:g.47452810G>A			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	CCDS2754.1																																																																																				0.647	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		A	47452810	G	A	47452810	2	1	174	1	0	0	0	0	0	0	0	1	12794	1310	46	2		2	PTPN23	3	47452810	Silent	SNP	G	TCGA-B0-5083-01A-02D-1421-08	11689676	47452810	150569620	12	10056											
ATR	545	broad.mit.edu	37	3	142275326	142275326	+	Silent	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr3:142275326G>A	ENST00000350721.4	-	9	2098	c.1977C>T	c.(1975-1977)gcC>gcT	p.A659A	ATR_ENST00000383101.3_Silent_p.A595A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	659					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGCTCTGCAGGGCCCAGTTGT	0.423								Other conserved DNA damage response genes																																								0													96	101	100					3																	142275326		2203	4300	6503	SO:0001819	synonymous_variant	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1977C>T	3.37:g.142275326G>A			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	CCDS3124.1																																																																																				0.423	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		A	142275326	G	A	142275326	2	1	174	1	0	0	0	0	0	0	0	1	1204	1219	43	2		2	ATR	3	142275326	Silent	SNP	G	TCGA-B0-5083-01A-02D-1421-08	94822516	142275326	55747104	13	10057											
SEL1L3	23231	broad.mit.edu	37	4	25780777	25780777	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr4:25780777C>T	ENST00000399878.3	-	16	2628	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	SEL1L3_ENST00000502949.1_Missense_Mutation_p.E683K|SEL1L3_ENST00000264868.5_Missense_Mutation_p.E801K	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	836						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGGTCCCTTCCATGTGTCCA	0.468																																																0													154	141	145					4																	25780777		1961	4154	6115	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2506G>A	4.37:g.25780777C>T	ENSP00000382767:p.Glu836Lys		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052123	0.75960	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000514321	T;T;T;T	0.52057	0.68;0.68;0.68;0.71	5.22	5.22	0.72569	Tetratricopeptide-like helical (1);	0.238594	0.42172	D	0.000741	T	0.35799	0.0944	L	0.29908	0.895	0.45097	D	0.998117	P;P	0.47409	0.895;0.73	B;B	0.38056	0.264;0.147	T	0.12993	-1.0526	10	0.19590	T	0.45	-20.3621	18.7819	0.91937	0.0:1.0:0.0:0.0	.	243;836	B4DTH5;Q68CR1	.;SE1L3_HUMAN	K	836;801;683;17	ENSP00000382767:E836K;ENSP00000264868:E801K;ENSP00000425438:E683K;ENSP00000424564:E17K	ENSP00000264868:E801K	E	-	1	0	SEL1L3	25389875	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.940000	0.70187	2.429000	0.82318	0.561000	0.74099	GAA		0.468	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		T	25780777	C	T	25780777	3	4	174	1	0	0	0	0	1	0	0	0	14018	864	30	2	928	2	SEL1L3	4	25780777	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08		25780777	165373499	14	10058											
ANK2	287	broad.mit.edu	37	4	114278292	114278292	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr4:114278292C>A	ENST00000357077.4	+	38	8571	c.8518C>A	c.(8518-8520)Ccc>Acc	p.P2840T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2807T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2840					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCAGATTGCCCCAGTGAAAG	0.393																																																0													115	113	114					4																	114278292		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8518C>A	4.37:g.114278292C>A	ENSP00000349588:p.Pro2840Thr		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	3.677	-0.066266	0.07273	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65732	-0.15;-0.17	5.75	2.95	0.34219	.	0.690178	0.13177	N	0.407839	T	0.50240	0.1604	L	0.50333	1.59	0.20638	N	0.999876	B;B	0.31548	0.22;0.328	B;B	0.31101	0.115;0.124	T	0.39418	-0.9615	9	.	.	.	.	4.104	0.10028	0.0:0.4836:0.1706:0.3459	.	2807;2840	Q01484;Q01484-4	ANK2_HUMAN;.	T	2840;2807	ENSP00000349588:P2840T;ENSP00000264366:P2807T	.	P	+	1	0	ANK2	114497741	0.001000	0.12720	0.022000	0.16811	0.053000	0.15095	0.315000	0.19451	0.286000	0.22352	-0.145000	0.13849	CCC		0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114278292	C	A	114278292	3	1	174	1	0	0	0	0	1	0	0	0	621	623	22	4	8733	4	ANK2	4	114278292	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	88497515	114278292	76875984	15	10059											
TRIM23	373	broad.mit.edu	37	5	64920038	64920038	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr5:64920038C>T	ENST00000231524.9	-	1	435	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	TRAPPC13_ENST00000505553.1_5'Flank|TRAPPC13_ENST00000438419.2_5'Flank|TRIM23_ENST00000274327.7_Missense_Mutation_p.G22R|TRAPPC13_ENST00000231526.4_5'Flank|TRIM23_ENST00000381018.3_Missense_Mutation_p.G22R|CTC-534A2.2_ENST00000510585.2_5'Flank|TRAPPC13_ENST00000545191.1_5'Flank|TRAPPC13_ENST00000399438.3_5'Flank	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	22					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ACAGCTGTCCCCCGGCTGCCC	0.632																																																0													59	53	55					5																	64920038		2203	4300	6503	SO:0001583	missense	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.64G>A	5.37:g.64920038C>T	ENSP00000231524:p.Gly22Arg		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290697	0.59976	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327;ENST00000513794	T;T;T	0.74106	-0.73;-0.73;-0.81	5.55	5.55	0.83447	.	0.057044	0.64402	D	0.000001	T	0.71796	0.3382	L	0.39898	1.24	0.44417	D	0.997336	P;P;P	0.44946	0.468;0.846;0.846	B;P;B	0.47470	0.24;0.548;0.42	T	0.73824	-0.3861	10	0.66056	D	0.02	.	12.1651	0.54125	0.0:0.9225:0.0:0.0775	.	22;22;22	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	R	22	ENSP00000231524:G22R;ENSP00000370406:G22R;ENSP00000274327:G22R	ENSP00000231524:G22R	G	-	1	0	TRIM23	64955794	0.985000	0.35326	0.968000	0.41197	0.902000	0.53008	2.674000	0.46867	2.885000	0.99019	0.655000	0.94253	GGG		0.632	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		T	64920038	C	T	64920038	3	4	174	1	0	0	0	0	1	0	0	0	16502	623	22	2	1771	2	TRIM23	5	64920038	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08		64920038	115995222	16	10060											
PCDHB4	56131	broad.mit.edu	37	5	140501914	140501914	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr5:140501914C>T	ENST00000194152.1	+	1	334	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	112	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGAAATGCCGGTGCAATT	0.423																																																0													49	54	53					5																	140501914		2203	4300	6503	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.334C>T	5.37:g.140501914C>T	ENSP00000194152:p.Pro112Ser		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075004	0.76415	.	.	ENSG00000081818	ENST00000194152	T	0.53423	0.62	4.66	4.66	0.58398	.	.	.	.	.	T	0.74619	0.3740	M	0.90425	3.115	0.58432	D	0.999994	D	0.89917	1.0	D	0.77004	0.989	T	0.80683	-0.1273	9	0.66056	D	0.02	.	17.7061	0.88310	0.0:1.0:0.0:0.0	.	112	Q9Y5E5	PCDB4_HUMAN	S	112	ENSP00000194152:P112S	ENSP00000194152:P112S	P	+	1	0	PCDHB4	140482098	1.000000	0.71417	0.712000	0.30502	0.940000	0.58332	7.038000	0.76537	2.570000	0.86706	0.655000	0.94253	CCG		0.423	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		T	140501914	C	T	140501914	3	4	174	1	0	0	0	0	1	0	0	0	11546	739	26	2	336	2	PCDHB4	5	140501914	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	75581876	140501914	40413346	17	10061											
PCDHGB4	8641	broad.mit.edu	37	5	140769744	140769744	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr5:140769744C>G	ENST00000519479.1	+	1	2293	c.2293C>G	c.(2293-2295)Cta>Gta	p.L765V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	765					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTAATTTCCTAAAATGTAG	0.433																																																0													266	267	267					5																	140769744		1903	4144	6047	SO:0001583	missense	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2293C>G	5.37:g.140769744C>G	ENSP00000428288:p.Leu765Val		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	9.965	1.223914	0.22457	.	.	ENSG00000253953	ENST00000519479	T	0.52295	0.67	5.42	5.42	0.78866	.	.	.	.	.	T	0.56746	0.2006	M	0.83953	2.67	0.24157	N	0.995677	B;B	0.34161	0.439;0.312	B;B	0.35727	0.209;0.103	T	0.54529	-0.8280	9	0.35671	T	0.21	.	17.9866	0.89157	0.0:1.0:0.0:0.0	.	765;765	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	V	765	ENSP00000428288:L765V	ENSP00000428288:L765V	L	+	1	2	PCDHGB4	140749928	0.916000	0.31088	0.968000	0.41197	0.656000	0.38851	2.155000	0.42301	2.542000	0.85734	0.563000	0.77884	CTA		0.433	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		G	140769744	C	G	140769744	3	3	174	1	0	0	0	0	1	0	0	0	11567	680	24	4	2295	4	PCDHGB4	5	140769744	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	267830	140769744	40145516	18	10062											
SH3TC2	79628	broad.mit.edu	37	5	148427438	148427438	+	Missense_Mutation	SNP	C	C	T	rs189591944		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr5:148427438C>T	ENST00000515425.1	-	3	367	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R89H	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	89					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAGCATGCGCACCTCCTG	0.527																																																0													114	104	107					5																	148427438		2203	4300	6503	SO:0001583	missense	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.266G>A	5.37:g.148427438C>T	ENSP00000423660:p.Arg89His		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	4.854	0.158796	0.09236	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	T;T	0.75477	-0.94;-0.94	5.38	2.06	0.26882	.	0.705245	0.13816	N	0.360745	T	0.48786	0.1519	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.18310	0.007;0.027;0.007	B;B;B	0.12837	0.001;0.008;0.001	T	0.29427	-1.0012	10	0.13470	T	0.59	.	7.4279	0.27109	0.0:0.6483:0.0:0.3517	.	89;89;89	Q14CC0;D6RFX2;Q8TF17	.;.;S3TC2_HUMAN	H	89	ENSP00000423660:R89H;ENSP00000421860:R89H	ENSP00000313025:R89H	R	-	2	0	SH3TC2	148407631	0.000000	0.05858	0.279000	0.24732	0.206000	0.24218	0.116000	0.15561	0.727000	0.32360	0.655000	0.94253	CGC		0.527	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		T	148427438	C	T	148427438	3	4	174	1	0	0	0	0	1	0	0	0	14268	768	27	1	3660	1	SH3TC2	5	148427438	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	7657694	148427438	32487822	19	10063											
FYN	2534	broad.mit.edu	37	6	112015631	112015631	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr6:112015631G>A	ENST00000354650.3	-	12	1826	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	FYN_ENST00000356013.2_Missense_Mutation_p.A352V|FYN_ENST00000476769.2_5'Flank|FYN_ENST00000368678.4_Missense_Mutation_p.A404V|FYN_ENST00000538466.1_Missense_Mutation_p.A404V|FYN_ENST00000229471.4_Missense_Mutation_p.A352V|FYN_ENST00000368682.3_Missense_Mutation_p.A404V|FYN_ENST00000368667.2_Missense_Mutation_p.A407V|FYN_ENST00000229470.5_Missense_Mutation_p.A355V	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCCGAAGTCAGCAATCTTGCA	0.468																																																0													262	220	234					6																	112015631		2203	4300	6503	SO:0001583	missense	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1220C>T	6.37:g.112015631G>A	ENSP00000346671:p.Ala407Val		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319146	0.95682	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90683	0.7077	L	0.58969	1.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.995;0.992;1.0	D	0.90477	0.4457	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	355;407;352;404	B3KPS6;P06241;P06241-3;E1P556	.;FYN_HUMAN;.;.	V	404;407;352;407;404;355;352;404;355	ENSP00000357671:A404V;ENSP00000346671:A407V;ENSP00000229471:A352V;ENSP00000357656:A407V;ENSP00000357667:A404V;ENSP00000229470:A355V;ENSP00000348295:A352V;ENSP00000440646:A404V	ENSP00000229470:A355V	A	-	2	0	FYN	112122324	1.000000	0.71417	0.997000	0.53966	0.737000	0.42083	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GCT		0.468	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			A	112015631	G	A	112015631	3	1	174	1	0	0	0	0	1	0	0	0	6128	971	34	2	405	2	FYN	6	112015631	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08		112015631	59099436	20	10064											
RFX6	222546	broad.mit.edu	37	6	117248669	117248669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr6:117248669C>T	ENST00000332958.2	+	17	2381	c.2365C>T	c.(2365-2367)Caa>Taa	p.Q789*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	789					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGCCAGCTGCCAAGGAGCAAC	0.418																																																0													37	38	37					6																	117248669		2203	4299	6502	SO:0001587	stop_gained	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2365C>T	6.37:g.117248669C>T	ENSP00000332208:p.Gln789*		Q5T6B3	Nonsense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675308	0.96764	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.17	4.28	0.50868	.	0.528191	0.20395	N	0.093173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-5.8858	14.0878	0.64971	0.0:0.8497:0.1503:0.0	.	.	.	.	X	789	.	ENSP00000332208:Q789X	Q	+	1	0	RFX6	117355362	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.910000	0.48766	1.370000	0.46153	0.561000	0.74099	CAA		0.418	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		T	117248669	C	T	117248669	4	4	174	1	0	0	0	0	0	1	0	0	13273	595	21	2	2431	2	RFX6	6	117248669	Nonsense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	5233038	117248669	53866398	21	10065											
ABCA13	154664	broad.mit.edu	37	7	48259051	48259051	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr7:48259051G>C	ENST00000435803.1	+	4	412	c.388G>C	c.(388-390)Gac>Cac	p.D130H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	130					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGAATGATGGACAAGGCAAA	0.423																																																0													118	112	114					7																	48259051		1856	4099	5955	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.388G>C	7.37:g.48259051G>C	ENSP00000411096:p.Asp130His		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	9.686	1.150597	0.21371	.	.	ENSG00000179869	ENST00000435803	T	0.31769	1.48	5.58	3.77	0.43336	.	0.553548	0.16120	N	0.228711	T	0.35393	0.0930	L	0.38531	1.155	0.80722	D	1	P;P	0.45474	0.746;0.859	B;P	0.51170	0.236;0.661	T	0.02625	-1.1132	10	0.56958	D	0.05	.	11.5377	0.50648	0.1596:0.0:0.8404:0.0	.	130;130	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	H	130	ENSP00000411096:D130H	ENSP00000409268:D130H	D	+	1	0	ABCA13	48229597	0.983000	0.35010	0.864000	0.33941	0.340000	0.28889	0.453000	0.21811	0.408000	0.25621	-0.797000	0.03246	GAC		0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		C	48259051	G	C	48259051	3	2	174	1	0	0	0	0	1	0	0	0	31	1174	41	4	231	4	ABCA13	7	48259051	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08		48259051	110879612	22	10066											
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATGTGTAGGGTCT	0.428																																																0													61	62	61					7																	57187725		2091	4234	6325	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1397C>A	7.37:g.57187725G>T	ENSP00000333776:p.Thr466Lys			Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.806322	0.00074	.	.	ENSG00000185177	ENST00000331162	T	0.20738	2.05	0.955	-1.78	0.07957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.01267	-0.92	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.35699	-0.9778	9	0.02654	T	1	.	5.6195	0.17450	0.0:0.0:0.5844:0.4156	.	466	Q96JC4	ZN479_HUMAN	K	466	ENSP00000333776:T466K	ENSP00000333776:T466K	T	-	2	0	ZNF479	57191667	0.000000	0.05858	0.065000	0.19835	0.062000	0.15995	-1.024000	0.03603	-0.948000	0.03668	-0.940000	0.02684	ACA		0.428	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		T	57187725	G	T	57187725	3	4	174	1	0	0	0	0	1	0	0	0	17938	1377	48	4	181	4	ZNF479	7	57187725	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08	8928674	57187725	101950938	23	10067											
PRKDC	5591	broad.mit.edu	37	8	48839848	48839848	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr8:48839848T>G	ENST00000314191.2	-	21	2381	c.2325A>C	c.(2323-2325)gaA>gaC	p.E775D	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E775D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	775					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAATTGACCATTCTTCTAGAG	0.428								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											0													98	89	92					8																	48839848		1882	4110	5992	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2325A>C	8.37:g.48839848T>G	ENSP00000313420:p.Glu775Asp		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	T	8.472	0.857730	0.17178	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.68331	-0.15;-0.32	5.83	-1.27	0.09347	Armadillo-type fold (1);	0.201302	0.41097	D	0.000946	T	0.36441	0.0967	.	.	.	0.27473	N	0.952817	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.002	T	0.10941	-1.0608	9	0.12766	T	0.61	.	3.3461	0.07136	0.0948:0.3622:0.1731:0.3699	.	775;775;775	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	D	775	ENSP00000313420:E775D;ENSP00000345182:E775D	ENSP00000313420:E775D	E	-	3	2	PRKDC	49002401	0.999000	0.42202	0.996000	0.52242	0.544000	0.35116	0.391000	0.20784	-0.096000	0.12329	-0.376000	0.06991	GAA		0.428	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		G	48839848	T	G	48839848	3	3	174	1	0	0	0	0	1	0	0	0	12526	1490	52	5	10324	5	PRKDC	8	48839848	Missense_Mutation	SNP	T	TCGA-B0-5083-01A-02D-1421-08		48839848	97524174	24	10068											
SULF1	23213	broad.mit.edu	37	8	70536394	70536394	+	Silent	SNP	C	C	T	rs375090509		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr8:70536394C>T	ENST00000260128.4	+	15	2529	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	SULF1_ENST00000458141.2_Silent_p.N604N|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.N604N|SULF1_ENST00000419716.3_Silent_p.N604N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	604					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATAGCAGCAACGCCGTGGGCC	0.512																																																0								C	,,,	0,4406		0,0,2203	69	63	65		1812,1812,1812,1812	-1.4	1	8		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SULF1	NM_001128204.1,NM_001128205.1,NM_001128206.1,NM_015170.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	604/872,604/872,604/872,604/872	70536394	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1812C>T	8.37:g.70536394C>T			Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	37	CCDS6204.1																																																																																				0.512	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		T	70536394	C	T	70536394	2	4	174	1	0	0	0	0	0	0	0	1	15375	535	19	1		1	SULF1	8	70536394	Silent	SNP	C	TCGA-B0-5083-01A-02D-1421-08	21696546	70536394	75827628	25	10069											
DHTKD1	55526	broad.mit.edu	37	10	12160774	12160774	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr10:12160774G>A	ENST00000263035.4	+	15	2491	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	810					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G810D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTCTGCTCCGGCAAACATTTC	0.483																																																1	Substitution - Missense(1)	large_intestine(1)											148	160	156					10																	12160774		2203	4300	6503	SO:0001583	missense	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2429G>A	10.37:g.12160774G>A	ENSP00000263035:p.Gly810Asp		Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644508	0.67358	.	.	ENSG00000181192	ENST00000263035	T	0.27890	1.64	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85790	0.1367	10	0.87932	D	0	-8.3847	18.7995	0.92010	0.0:0.0:1.0:0.0	.	810	Q96HY7	DHTK1_HUMAN	D	810	ENSP00000263035:G810D	ENSP00000263035:G810D	G	+	2	0	DHTKD1	12200780	1.000000	0.71417	0.994000	0.49952	0.183000	0.23260	9.411000	0.97342	2.516000	0.84829	0.448000	0.29417	GGC		0.483	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		A	12160774	G	A	12160774	3	1	174	1	0	0	0	0	1	0	0	0	4502	1203	42	2	2487	2	DHTKD1	10	12160774	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08		12160774	123373973	26	10070											
C10orf54	64115	broad.mit.edu	37	10	73511020	73511020	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr10:73511020T>C	ENST00000394957.3	-	7	984	c.926A>G	c.(925-927)gAg>gGg	p.E309G	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	309					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CTAGATGACCTCAAAGTTTGG	0.622																																																0													67	69	68					10																	73511020		2203	4300	6503	SO:0001583	missense	64115			AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.926A>G	10.37:g.73511020T>C	ENSP00000378409:p.Glu309Gly		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766068	0.69878	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.49432	0.78	5.94	4.75	0.60458	.	0.462385	0.23589	N	0.046563	T	0.42268	0.1195	L	0.46157	1.445	0.26446	N	0.975684	P;P	0.46395	0.877;0.598	B;B	0.43360	0.417;0.188	T	0.40869	-0.9540	10	0.45353	T	0.12	.	9.8215	0.40885	0.153:0.0:0.0:0.847	.	309;309	A4ZYV1;Q9H7M9	.;GI24_HUMAN	G	309;305	ENSP00000378409:E309G	ENSP00000263569:E305G	E	-	2	0	C10orf54	73181026	0.988000	0.35896	0.787000	0.31911	0.730000	0.41778	2.968000	0.49224	2.279000	0.76181	0.459000	0.35465	GAG		0.622	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		C	73511020	T	C	73511020	3	2	174	1	0	0	0	0	1	0	0	0	1609	1551	54	3	13	3	C10orf54	10	73511020	Missense_Mutation	SNP	T	TCGA-B0-5083-01A-02D-1421-08	61350246	73511020	62023727	27	10071											
C10orf120	399814	broad.mit.edu	37	10	124457994	124457994	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr10:124457994C>T	ENST00000329446.4	-	3	294	c.263G>A	c.(262-264)gGc>gAc	p.G88D		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	88										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GGTGTGAATGCCACCTAGACG	0.488																																																0													186	195	192					10																	124457994		2203	4300	6503	SO:0001583	missense	399814				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.263G>A	10.37:g.124457994C>T	ENSP00000331012:p.Gly88Asp		B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.942053|2.942053	0.53079|0.53079	.|.	.|.	ENSG00000183559|ENSG00000183559	ENST00000432000|ENST00000329446	.|T	.|0.75154	.|-0.91	4.82|4.82	3.92|3.92	0.45320|0.45320	.|.	.|0.000000	.|0.50627	.|D	.|0.000112	T|T	0.75781|0.75781	0.3896|0.3896	M|M	0.76574|0.76574	2.34|2.34	0.36629|0.36629	D|D	0.87618|0.87618	.|P	.|0.46706	.|0.883	.|P	.|0.46543	.|0.52	T|T	0.81820|0.81820	-0.0757|-0.0757	5|10	.|0.87932	.|D	.|0	-23.8618|-23.8618	9.1296|9.1296	0.36837|0.36837	0.0:0.9011:0.0:0.0989|0.0:0.9011:0.0:0.0989	.|.	.|88	.|Q5SQS8	.|CJ120_HUMAN	T|D	81|88	.|ENSP00000331012:G88D	.|ENSP00000331012:G88D	A|G	-|-	1|2	0|0	C10orf120|C10orf120	124447984|124447984	0.835000|0.835000	0.29415|0.29415	0.712000|0.712000	0.30502|0.30502	0.603000|0.603000	0.37013|0.37013	3.084000|3.084000	0.50143|0.50143	1.388000|1.388000	0.46506|0.46506	-0.199000|-0.199000	0.12753|0.12753	GCA|GGC		0.488	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		T	124457994	C	T	124457994	3	4	174	1	0	0	0	0	1	0	0	0	1592	739	26	2	748	2	C10orf120	10	124457994	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	50946974	124457994	11076753	28	10072											
DPYSL4	10570	broad.mit.edu	37	10	134016279	134016279	+	Missense_Mutation	SNP	C	C	T	rs143213280		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr10:134016279C>T	ENST00000338492.4	+	12	1575	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	471					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CTTCGTCCCTCGGAAAACATT	0.642																																																0													60	67	65					10																	134016279		2203	4299	6502	SO:0001583	missense	10570			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1411C>T	10.37:g.134016279C>T	ENSP00000339850:p.Arg471Trp		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169846	0.38315	.	.	ENSG00000151640	ENST00000338492	T	0.80653	-1.4	4.26	3.33	0.38152	Metal-dependent hydrolase, composite domain (1);	0.122178	0.53938	D	0.000060	D	0.88934	0.6572	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88648	0.3180	10	0.87932	D	0	-21.0407	5.5032	0.16840	0.1747:0.6518:0.0:0.1735	.	471	O14531	DPYL4_HUMAN	W	471	ENSP00000339850:R471W	ENSP00000339850:R471W	R	+	1	2	DPYSL4	133866269	0.000000	0.05858	0.788000	0.31933	0.060000	0.15804	-0.357000	0.07651	2.201000	0.70794	0.555000	0.69702	CGG		0.642	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			T	134016279	C	T	134016279	3	4	174	1	0	0	0	0	1	0	0	0	4751	875	31	1	1457	1	DPYSL4	10	134016279	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	9558285	134016279	1518468	29	10073											
PSMD13	5719	broad.mit.edu	37	11	250865	250865	+	Splice_Site	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:250865G>A	ENST00000532097.1	+	10	1341	c.837G>A	c.(835-837)gaG>gaA	p.E279E	PSMD13_ENST00000431206.2_Splice_Site_p.E281E|PSMD13_ENST00000352303.5_Splice_Site_p.E279E	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	279	PCI.				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)|meiosis I (GO:0007127)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		GCCTCATGGAGGTAAGCGAAC	0.478											OREG0020657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													116	105	109					11																	250865		2203	4300	6503	SO:0001630	splice_region_variant	5719			AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"Proteasome (prosome, macropain) subunits"	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.837+1G>A	11.37:g.250865G>A		586	B3KT15|O75831|Q53XU2|Q9UNV3	Splice_Site	SNP	ENST00000532097.1	37	CCDS7692.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494864	0.44352	.	.	ENSG00000185627	ENST00000526783	.	.	.	5.73	4.79	0.61399	.	.	.	.	.	T	0.71117	0.3302	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70828	-0.4766	4	.	.	.	.	15.5801	0.76428	0.0:0.1384:0.8616:0.0	.	.	.	.	K	190	.	.	R	+	2	0	PSMD13	240865	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.442000	0.97566	1.497000	0.48584	0.655000	0.94253	AGA		0.478	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239286.2	NM_002817	Silent	A	250865	G	A	250865	5	1	174	1	0	0	0	0	0	0	1	0	12701	1014	35	2	956	2	PSMD13	11	250865	Splice_Site	SNP	G	TCGA-B0-5083-01A-02D-1421-08		250865	134755651	30	10074											
TRIM6	117854	broad.mit.edu	37	11	5626669	5626669	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:5626669G>C	ENST00000278302.5	+	4	762	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q	TRIM6_ENST00000507320.1_Missense_Mutation_p.E33Q|TRIM6_ENST00000380097.3_Missense_Mutation_p.E236Q|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Missense_Mutation_p.E33Q|TRIM6_ENST00000445329.1_Missense_Mutation_p.E33Q|TRIM6_ENST00000380107.1_Missense_Mutation_p.E182Q|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.E236Q|TRIM6_ENST00000506134.1_Missense_Mutation_p.E33Q	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	208					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCTGGAACAGGAAGAGAAGAA	0.512											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													89	90	90					11																	5626669		2201	4297	6498	SO:0001583	missense	117854			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.622G>C	11.37:g.5626669G>C	ENSP00000278302:p.Glu208Gln	627	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513086	0.64522	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92	4.87	3.95	0.45737	.	.	.	.	.	T	0.40347	0.1113	M	0.91561	3.22	0.23043	N	0.99839	D;D;P;D;D	0.89917	0.999;1.0;0.663;1.0;0.999	D;D;B;D;D	0.85130	0.994;0.987;0.141;0.997;0.994	T	0.30679	-0.9970	9	0.72032	D	0.01	.	11.8685	0.52507	0.0:0.1769:0.8231:0.0	.	33;182;236;236;208	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	Q	208;33;33;182;236;33;115;33;33;236;236	ENSP00000278302:E208Q;ENSP00000414108:E33Q;ENSP00000427704:E33Q;ENSP00000369450:E182Q;ENSP00000369440:E236Q;ENSP00000399215:E33Q;ENSP00000421802:E33Q;ENSP00000421079:E33Q;ENSP00000346916:E236Q	ENSP00000278302:E208Q	E	+	1	0	TRIM34;TRIM6;TRIM6-TRIM34	5583245	0.979000	0.34478	0.998000	0.56505	0.711000	0.40976	1.666000	0.37460	1.362000	0.46000	-0.165000	0.13383	GAA		0.512	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		C	5626669	G	C	5626669	3	2	174	1	0	0	0	0	1	0	0	0	16538	1175	41	4	720	4	TRIM6	11	5626669	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08	5375804	5626669	129379847	31	10075											
RAG2	5897	broad.mit.edu	37	11	36614565	36614565	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:36614565C>T	ENST00000311485.3	-	2	1315	c.1154G>A	c.(1153-1155)tGt>tAt	p.C385Y	RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	385					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGCACTGAAACAAAATTCTTC	0.383									Familial Hemophagocytic Lymphohistiocytosis																																							0													135	132	133					11																	36614565		2202	4298	6500	SO:0001583	missense	5897	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1154G>A	11.37:g.36614565C>T	ENSP00000308620:p.Cys385Tyr		A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528959	0.44969	.	.	ENSG00000175097	ENST00000311485	D	0.89123	-2.47	5.45	5.45	0.79879	.	0.193425	0.47093	D	0.000242	D	0.83589	0.5287	N	0.13352	0.335	0.31858	N	0.6213	P	0.51147	0.942	P	0.52646	0.705	T	0.81357	-0.0969	10	0.20519	T	0.43	-10.0296	10.3799	0.44106	0.1242:0.5888:0.287:0.0	.	385	P55895	RAG2_HUMAN	Y	385	ENSP00000308620:C385Y	ENSP00000308620:C385Y	C	-	2	0	RAG2	36571141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.297000	0.43593	2.715000	0.92844	0.650000	0.86243	TGT		0.383	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		T	36614565	C	T	36614565	3	4	174	1	0	0	0	0	1	0	0	0	13011	478	17	2	433	2	RAG2	11	36614565	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	30987896	36614565	98391951	32	10076											
DTX4	23220	broad.mit.edu	37	11	58949292	58949292	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:58949292G>A	ENST00000227451.3	+	2	396	c.292G>A	c.(292-294)Gac>Aac	p.D98N	DTX4_ENST00000532982.1_5'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	98	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTGGGAGAACGACAATGGCTC	0.617																																																0													111	119	117					11																	58949292		2188	4294	6482	SO:0001583	missense	23220			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.292G>A	11.37:g.58949292G>A	ENSP00000227451:p.Asp98Asn		Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861272	0.91433	.	.	ENSG00000110042	ENST00000227451	T	0.33654	1.4	4.74	3.83	0.44106	WWE domain (2);WWE domain, subgroup (1);	.	.	.	.	T	0.54447	0.1859	M	0.76727	2.345	0.49389	D	0.999781	D	0.71674	0.998	D	0.64506	0.926	T	0.53975	-0.8362	9	0.33141	T	0.24	.	11.8967	0.52659	0.0852:0.0:0.9148:0.0	.	98	Q9Y2E6	DTX4_HUMAN	N	98	ENSP00000227451:D98N	ENSP00000227451:D98N	D	+	1	0	DTX4	58705868	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	9.222000	0.95196	1.240000	0.43803	0.655000	0.94253	GAC		0.617	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		A	58949292	G	A	58949292	3	1	174	1	0	0	0	0	1	0	0	0	4799	1058	37	1	298	1	DTX4	11	58949292	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08	22334727	58949292	76057224	33	10077											
ROM1	6094	broad.mit.edu	37	11	62381766	62381778	+	Frame_Shift_Del	DEL	TGATGGGGTCCCT	TGATGGGGTCCCT	-	rs200287184		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:62381766_62381778delTGATGGGGTCCCT	ENST00000278833.3	+	2	1168_1180	c.627_639delTGATGGGGTCCCT	c.(625-639)actgatggggtccctfs	p.TDGVP209fs	EML3_ENST00000494176.2_5'Flank|ROM1_ENST00000534093.1_Start_Codon_Del|EML3_ENST00000529309.1_5'Flank|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000394773.2_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	209					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						TATACCTGACTGATGGGGTCCCTTTCTCCTGTT	0.582																																																0																																										SO:0001589	frameshift_variant	6094			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"Tetraspanins"	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.627_639delTGATGGGGTCCCT	11.37:g.62381766_62381778delTGATGGGGTCCCT	ENSP00000278833:p.Thr209fs		B2R978	Frame_Shift_Del	DEL	ENST00000278833.3	37	CCDS8024.1																																																																																				0.582	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327		-	62381778	TGATGGGGTCCCT	-	62381766	7	5	174	1	0	1	0	1	0	0	0	0	13527	1567	55	0	633	0	ROM1	11	62381766	Frame_Shift_Del	DEL	TGATGGGGTCCCT	TCGA-B0-5083-01A-02D-1421-08	3432474	62381766	72624750	34	10078											
SUV420H1	51111	broad.mit.edu	37	11	67926348	67926348	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:67926348G>A	ENST00000304363.4	-	11	1818	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	489					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.P489S(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTTTAATGGGCAAATTTTTA	0.458																																																1	Substitution - Missense(1)	kidney(1)											65	70	68					11																	67926348		2200	4294	6494	SO:0001583	missense	51111			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1465C>T	11.37:g.67926348G>A	ENSP00000305899:p.Pro489Ser		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449887	0.26074	.	.	ENSG00000110066	ENST00000304363	T	0.47177	0.85	5.2	3.36	0.38483	.	0.160727	0.48286	D	0.000200	T	0.47930	0.1472	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.35101	-0.9802	10	0.25751	T	0.34	-8.1406	7.2446	0.26115	0.147:0.1391:0.7139:0.0	.	489	Q4FZB7	SV421_HUMAN	S	489	ENSP00000305899:P489S	ENSP00000305899:P489S	P	-	1	0	SUV420H1	67682924	1.000000	0.71417	0.931000	0.37212	0.022000	0.10575	3.236000	0.51336	0.791000	0.33826	-0.229000	0.12294	CCC		0.458	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		A	67926348	G	A	67926348	3	1	174	1	0	0	0	0	1	0	0	0	15419	1203	42	2	1196	2	SUV420H1	11	67926348	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08	5544582	67926348	67080168	35	10079											
CCDC89	220388	broad.mit.edu	37	11	85396245	85396245	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:85396245G>A	ENST00000316398.3	-	1	1075	c.929C>T	c.(928-930)gCg>gTg	p.A310V	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	310						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCGCTCCAGCGCATGCTTCCT	0.512																																																0													150	118	129					11																	85396245		2203	4299	6502	SO:0001583	missense	220388			AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.929C>T	11.37:g.85396245G>A	ENSP00000320649:p.Ala310Val			Missense_Mutation	SNP	ENST00000316398.3	37	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546463	0.45383	.	.	ENSG00000179071	ENST00000316398	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83179	0.5198	M	0.78049	2.395	0.50813	D	0.999893	D	0.89917	1.0	D	0.77004	0.989	T	0.81538	-0.0887	8	.	.	.	-8.9324	20.6208	0.99490	0.0:0.0:1.0:0.0	.	310	Q8N998	CCD89_HUMAN	V	310	.	.	A	-	2	0	CCDC89	85073893	0.998000	0.40836	0.082000	0.20525	0.119000	0.20118	4.015000	0.57152	2.882000	0.98803	0.655000	0.94253	GCG		0.512	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		A	85396245	G	A	85396245	3	1	174	1	0	0	0	0	1	0	0	0	2868	1087	38	1	199	1	CCDC89	11	85396245	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08	17469897	85396245	49610271	36	10080											
A2M	2	broad.mit.edu	37	12	9248274	9248274	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr12:9248274T>C	ENST00000318602.7	-	16	2181	c.1874A>G	c.(1873-1875)aAg>aGg	p.K625R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	625					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGTGAGGTCCTTTTCTGGTAG	0.353																																																0													91	88	89					12																	9248274		1840	4095	5935	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1874A>G	12.37:g.9248274T>C	ENSP00000323929:p.Lys625Arg		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	2.997	-0.206972	0.06180	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.30182	1.54	5.65	1.87	0.25490	.	1.918670	0.02461	N	0.086595	T	0.35189	0.0923	M	0.67625	2.065	0.09310	N	1	B	0.31989	0.35	B	0.34301	0.179	T	0.15435	-1.0437	10	0.36615	T	0.2	.	5.5481	0.17076	0.1278:0.144:0.0:0.7282	.	625	P01023	A2MG_HUMAN	R	625;640	ENSP00000323929:K625R	ENSP00000323929:K625R	K	-	2	0	A2M	9139541	0.996000	0.38824	0.021000	0.16686	0.122000	0.20287	2.545000	0.45769	0.126000	0.18424	-0.297000	0.09499	AAG		0.353	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		C	9248274	T	C	9248274	3	2	174	1	0	0	0	0	1	0	0	0	4	1609	56	3	2634	3	A2M	12	9248274	Missense_Mutation	SNP	T	TCGA-B0-5083-01A-02D-1421-08		9248274	124603621	37	10081											
PRICKLE1	144165	broad.mit.edu	37	12	42853645	42853645	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr12:42853645T>C	ENST00000455697.1	-	8	2747	c.2462A>G	c.(2461-2463)aAg>aGg	p.K821R	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K821R|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K821R|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K821R|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K821R	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	821	Poly-Lys.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTGTGTCCCTTTTTCTTCTT	0.403																																																0													187	178	181					12																	42853645		2203	4300	6503	SO:0001583	missense	144165			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2462A>G	12.37:g.42853645T>C	ENSP00000401060:p.Lys821Arg		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001248	0.35320	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.75	3.6	0.41247	.	0.088670	0.85682	N	0.000000	T	0.39200	0.1069	N	0.08118	0	0.39944	D	0.974441	B	0.16603	0.018	B	0.12156	0.007	T	0.17961	-1.0352	10	0.08381	T	0.77	-23.9075	8.2953	0.31982	0.0:0.1764:0.0:0.8236	.	821	Q96MT3	PRIC1_HUMAN	R	821	ENSP00000401060:K821R;ENSP00000398947:K821R;ENSP00000448359:K821R;ENSP00000345064:K821R;ENSP00000449819:K821R	ENSP00000345064:K821R	K	-	2	0	PRICKLE1	41139912	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	1.274000	0.33132	0.956000	0.37904	0.533000	0.62120	AAG		0.403	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			C	42853645	T	C	42853645	3	2	174	1	0	0	0	0	1	0	0	0	12491	1609	56	3	37	3	PRICKLE1	12	42853645	Missense_Mutation	SNP	T	TCGA-B0-5083-01A-02D-1421-08	33605371	42853645	90998250	38	10082											
LGR5	8549	broad.mit.edu	37	12	71971760	71971760	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr12:71971760C>T	ENST00000266674.5	+	14	1575	c.1264C>T	c.(1264-1266)Cca>Tca	p.P422S	LGR5_ENST00000536515.1_Missense_Mutation_p.P350S|LGR5_ENST00000540815.2_Missense_Mutation_p.P398S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	422					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTCCACTTTGCCATCCCTAAT	0.313																																																0													148	145	146					12																	71971760		2202	4300	6502	SO:0001583	missense	8549			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1264C>T	12.37:g.71971760C>T	ENSP00000266674:p.Pro422Ser		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	5.149	0.213085	0.09757	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.59364	0.27;0.27;0.27	5.31	4.41	0.53225	.	0.208405	0.33980	N	0.004374	T	0.43233	0.1238	N	0.25647	0.755	0.38774	D	0.954606	B;B	0.15473	0.01;0.013	B;B	0.22152	0.022;0.038	T	0.35773	-0.9775	10	0.07030	T	0.85	.	16.0011	0.80292	0.0:0.8653:0.1347:0.0	.	398;422	O75473-2;O75473	.;LGR5_HUMAN	S	422;422;350;398	ENSP00000266674:P422S;ENSP00000443033:P350S;ENSP00000441035:P398S	ENSP00000266674:P422S	P	+	1	0	LGR5	70258027	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	2.005000	0.40864	1.234000	0.43709	0.650000	0.86243	CCA		0.313	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		T	71971760	C	T	71971760	3	4	174	1	0	0	0	0	1	0	0	0	8759	739	26	2	1318	2	LGR5	12	71971760	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	29118115	71971760	61880135	39	10083											
ZMYM2	7750	broad.mit.edu	37	13	20577188	20577188	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr13:20577188G>A	ENST00000382874.2	+	5	1236	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	ZMYM2_ENST00000382881.3_Missense_Mutation_p.G262E|ZMYM2_ENST00000382869.3_Missense_Mutation_p.G349E|ZMYM2_ENST00000382871.2_Missense_Mutation_p.G349E|ZMYM2_ENST00000382883.3_5'Flank	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAACGAAAAGGATCAGCTCAC	0.443																																																0													96	92	93					13																	20577188		2203	4300	6503	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1046G>A	13.37:g.20577188G>A	ENSP00000372327:p.Gly349Glu		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735737	0.89482	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	4.79	4.79	0.61399	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83580	0.0117	10	0.62326	D	0.03	26.8	17.8387	0.88709	0.0:0.0:1.0:0.0	.	349;349;262	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	E	349;349;262;349;349	ENSP00000372322:G349E;ENSP00000372334:G262E;ENSP00000372327:G349E;ENSP00000372324:G349E	ENSP00000372322:G349E	G	+	2	0	ZMYM2	19475188	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.402000	0.97298	2.216000	0.71823	0.563000	0.77884	GGA		0.443	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		A	20577188	G	A	20577188	3	1	174	1	0	0	0	0	1	0	0	0	17705	1174	41	2	1052	2	ZMYM2	13	20577188	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08		20577188	94592690	40	10084											
OXA1L	5018	broad.mit.edu	37	14	23239116	23239116	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:23239116G>A	ENST00000604262.1	+	4	579	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	OXA1L_ENST00000285848.5_Missense_Mutation_p.A246T|OXA1L_ENST00000358043.5_Missense_Mutation_p.A170T|OXA1L_ENST00000412791.1_Missense_Mutation_p.A186T			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	186					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AATCAGAGAGGCCAAGTTAGC	0.507																																																0													494	472	480					14																	23239116		2203	4300	6503	SO:0001583	missense	5018				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.556G>A	14.37:g.23239116G>A	ENSP00000474623:p.Ala186Thr		B4DPA2	Missense_Mutation	SNP	ENST00000604262.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.202917	0.94997	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.37235	1.21;1.28;1.23	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.995;0.997	T	0.65685	-0.6108	10	0.59425	D	0.04	-18.0381	19.2492	0.93917	0.0:0.0:1.0:0.0	.	186;186;246	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	T	246;55;186;170	ENSP00000285848:A246T;ENSP00000387601:A186T;ENSP00000350740:A170T	ENSP00000285848:A246T	A	+	1	0	OXA1L	22308956	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.987000	0.88182	2.840000	0.97914	0.655000	0.94253	GCC		0.507	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015		A	23239116	G	A	23239116	3	1	174	1	0	0	0	0	1	0	0	0	11330	1203	42	2	750	2	OXA1L	14	23239116	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08		23239116	84110424	41	10085											
TGM1	7051	broad.mit.edu	37	14	24727524	24727524	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:24727524delC	ENST00000206765.6	-	9	1492	c.1369delG	c.(1369-1371)gtgfs	p.V458fs	TGM1_ENST00000544573.1_Frame_Shift_Del_p.V16fs	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	458					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCATCCACCACCTGCCACCCA	0.602																																																0													46	45	45					14																	24727524		2203	4300	6503	SO:0001589	frameshift_variant	7051			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1369delG	14.37:g.24727524delC	ENSP00000206765:p.Val458fs		B4DWR7|Q197M4	Frame_Shift_Del	DEL	ENST00000206765.6	37	CCDS9622.1																																																																																				0.602	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		-	24727524	C	-	24727524	7	5	174	1	0	1	0	1	0	0	0	0	15834	507	18	0	1112	0	TGM1	14	24727524	Frame_Shift_Del	DEL	C	TCGA-B0-5083-01A-02D-1421-08	1488408	24727524	82622016	42	10086											
DDHD1	80821	broad.mit.edu	37	14	53522428	53522428	+	Missense_Mutation	SNP	C	C	T	rs143188831		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:53522428C>T	ENST00000323669.5	-	10	2194	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	DDHD1_ENST00000395606.1_Missense_Mutation_p.R739H|DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000357758.3_Missense_Mutation_p.R732H	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	732	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATAGTGTCGGCGGGACAAAAC	0.403																																																0								C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	176	175	176		2216,2195,2195	6	1	14	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	DDHD1	NM_001160147.1,NM_001160148.1,NM_030637.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	739/880,732/901,732/873	53522428	2,13004	2203	4300	6503	SO:0001583	missense	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2195G>A	14.37:g.53522428C>T	ENSP00000327104:p.Arg732His		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421094	0.96111	0.0	2.33E-4	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.97	5.97	0.96955	DDHD (2);	0.047041	0.85682	D	0.000000	T	0.79661	0.4484	M	0.67569	2.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.994;0.984;1.0;0.956	T	0.79252	-0.1880	9	0.66056	D	0.02	-14.8791	20.4239	0.99064	0.0:1.0:0.0:0.0	.	128;739;732;732	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	H	732;739;732;603	.	ENSP00000327104:R732H	R	-	2	0	DDHD1	52592178	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.796000	0.85898	2.828000	0.97474	0.655000	0.94253	CGC		0.403	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			T	53522428	C	T	53522428	3	4	174	1	0	0	0	0	1	0	0	0	4328	768	27	1	523	1	DDHD1	14	53522428	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	28794904	53522428	53827112	43	10087											
SGPP1	81537	broad.mit.edu	37	14	64153040	64153040	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:64153040A>G	ENST00000247225.6	-	3	1203	c.1109T>C	c.(1108-1110)cTc>cCc	p.L370P		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	370					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CATCCCTATGAGGATCCGCAA	0.383																																																0													112	107	109					14																	64153040		2203	4300	6503	SO:0001583	missense	81537			AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1109T>C	14.37:g.64153040A>G	ENSP00000247225:p.Leu370Pro		B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.722150	0.30503	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.908777	0.09530	N	0.789664	T	0.61375	0.2342	M	0.64997	1.995	0.21841	N	0.999511	P	0.48998	0.918	P	0.50896	0.653	T	0.57814	-0.7746	9	0.72032	D	0.01	-19.071	16.6406	0.85098	1.0:0.0:0.0:0.0	.	370	Q9BX95	SGPP1_HUMAN	P	370	.	ENSP00000247225:L370P	L	-	2	0	SGPP1	63222793	0.141000	0.22595	0.205000	0.23548	0.622000	0.37654	4.072000	0.57563	2.326000	0.78906	0.533000	0.62120	CTC		0.383	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		G	64153040	A	G	64153040	3	3	174	1	0	0	0	0	1	0	0	0	14225	304	11	3	220	3	SGPP1	14	64153040	Missense_Mutation	SNP	A	TCGA-B0-5083-01A-02D-1421-08	10630612	64153040	43196500	44	10088											
PGF	5228	broad.mit.edu	37	14	75420625	75420625	+	Missense_Mutation	SNP	C	C	T	rs200980724		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:75420625C>T	ENST00000405431.2	-	2	99	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	PGF_ENST00000553716.1_Missense_Mutation_p.G34S|PGF_ENST00000555567.1_Missense_Mutation_p.G34S|PGF_ENST00000238607.6_Missense_Mutation_p.G33S			P49763	PLGF_HUMAN	placental growth factor	34					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	TCTGACGAGCCGTTCCCAGCA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17910	0.0		0.0	False		,,,				2504	0.0				GBM(127;389 2301 5452 48547)											0													101	77	85					14																	75420625		2203	4300	6503	SO:0001583	missense	5228			S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"placenta growth factor"	601121	"placental growth factor-like", "placental growth factor, vascular endothelial growth factor-related protein"	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.100G>A	14.37:g.75420625C>T	ENSP00000385365:p.Gly34Ser		Q07101|Q9BV78|Q9Y6S8	Missense_Mutation	SNP	ENST00000405431.2	37	CCDS9835.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.24	1.878298	0.33162	.	.	ENSG00000119630	ENST00000555567;ENST00000553716;ENST00000238607;ENST00000405431	.	.	.	4.92	-5.89	0.02282	.	2.676020	0.02110	N	0.054733	T	0.19604	0.0471	N	0.12182	0.205	0.09310	N	1	P;B;B;B	0.34462	0.454;0.001;0.0;0.0	B;B;B;B	0.20384	0.029;0.001;0.001;0.001	T	0.16571	-1.0398	9	0.42905	T	0.14	.	13.8154	0.63287	0.0:0.255:0.0:0.745	.	34;34;33;34	P49763;P49763-2;G3XA84;Q53XY6	PLGF_HUMAN;.;.;.	S	34;34;33;34	.	ENSP00000238607:G34S	G	-	1	0	PGF	74490378	0.002000	0.14202	0.004000	0.12327	0.955000	0.61496	-1.506000	0.02271	-1.226000	0.02574	0.561000	0.74099	GGC		0.597	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	NM_002632		T	75420625	C	T	75420625	3	4	174	1	0	0	0	0	1	0	0	0	11790	652	23	1	436	1	PGF	14	75420625	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	11267585	75420625	31928915	45	10089											
FLRT2	23768	broad.mit.edu	37	14	86089264	86089264	+	Missense_Mutation	SNP	G	G	A	rs200926038		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:86089264G>A	ENST00000330753.4	+	2	2173	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	FLRT2_ENST00000554746.1_Missense_Mutation_p.R469H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	469	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTTCAGGAGCGCATAGTCAGC	0.507																																																0													128	112	117					14																	86089264		2203	4300	6503	SO:0001583	missense	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1406G>A	14.37:g.86089264G>A	ENSP00000332879:p.Arg469His		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037144	0.75617	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58060	0.36;0.36	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	L	0.38175	1.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	T	0.61667	-0.7016	10	0.45353	T	0.12	-24.0392	20.8794	0.99867	0.0:0.0:1.0:0.0	.	469	O43155	FLRT2_HUMAN	H	469;469;122	ENSP00000332879:R469H;ENSP00000451050:R469H	ENSP00000332879:R469H	R	+	2	0	FLRT2	85159017	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.947000	0.56652	2.941000	0.99782	0.655000	0.94253	CGC		0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			A	86089264	G	A	86089264	3	1	174	1	0	0	0	0	1	0	0	0	5941	1087	38	1	1408	1	FLRT2	14	86089264	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08	10668639	86089264	21260276	46	10090											
EML1	2009	broad.mit.edu	37	14	100380607	100380607	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:100380607G>A	ENST00000262233.6	+	14	1725	c.1586G>A	c.(1585-1587)gGc>gAc	p.G529D	EML1_ENST00000334192.4_Missense_Mutation_p.G548D|EML1_ENST00000327921.9_Missense_Mutation_p.G517D	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	529	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GTCCTGCAGGGCACTCTGTCA	0.502																																																0													143	125	131					14																	100380607		2203	4300	6503	SO:0001583	missense	2009			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1586G>A	14.37:g.100380607G>A	ENSP00000262233:p.Gly529Asp		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246172	0.95272	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.30448	1.53;1.53;1.53	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;0.967;1.0	D;P;D	0.97110	1.0;0.769;1.0	T	0.66512	-0.5905	10	0.87932	D	0	-28.872	18.3908	0.90483	0.0:0.0:1.0:0.0	.	517;529;548	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	D	517;529;548;548	ENSP00000327384:G517D;ENSP00000262233:G529D;ENSP00000334314:G548D	ENSP00000262233:G529D	G	+	2	0	EML1	99450360	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.648000	0.98483	2.343000	0.79666	0.585000	0.79938	GGC		0.502	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		A	100380607	G	A	100380607	3	1	174	1	0	0	0	0	1	0	0	0	5098	1203	42	2	1701	2	EML1	14	100380607	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08	14291343	100380607	6968933	47	10091											
HERC2	8924	broad.mit.edu	37	15	28386944	28386944	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr15:28386944C>A	ENST00000261609.7	-	77	11857	c.11749G>T	c.(11749-11751)Gtt>Ttt	p.V3917F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATGCAGAACATCCATGTTT	0.338																																																0													179	176	177					15																	28386944		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11749G>T	15.37:g.28386944C>A	ENSP00000261609:p.Val3917Phe			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287878	0.23478	.	.	ENSG00000128731	ENST00000261609	T	0.38560	1.13	5.9	4.99	0.66335	.	0.257856	0.39475	N	0.001358	T	0.21509	0.0518	N	0.08118	0	0.35827	D	0.82505	B	0.25609	0.13	B	0.24541	0.054	T	0.22103	-1.0226	10	0.13470	T	0.59	.	11.2677	0.49120	0.1272:0.8064:0.0:0.0664	.	3917	O95714	HERC2_HUMAN	F	3917	ENSP00000261609:V3917F	ENSP00000261609:V3917F	V	-	1	0	HERC2	26060539	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	1.675000	0.37555	1.518000	0.48934	0.655000	0.94253	GTT		0.338	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28386944	C	A	28386944	3	1	174	1	0	0	0	0	1	0	0	0	7060	478	17	4	2823	4	HERC2	15	28386944	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08		28386944	74144448	48	10092											
ZG16B	124220	broad.mit.edu	37	16	2882103	2882103	+	Silent	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr16:2882103G>A	ENST00000382280.3	+	4	649	c.570G>A	c.(568-570)ccG>ccA	p.P190P	ZG16B_ENST00000572863.1_Silent_p.P160P	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	190					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TAGAGGAGCCGACCACTGAGC	0.562																																																0													76	78	77					16																	2882103		1999	4177	6176	SO:0001819	synonymous_variant	124220			BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"jacalin-like lectin domain containing 2"		"zymogen granule protein 16 homolog B (rat)"			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.570G>A	16.37:g.2882103G>A			A6NIY1|B2R4F6|Q6UW28	Silent	SNP	ENST00000382280.3	37	CCDS10479.2																																																																																				0.562	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		A	2882103	G	A	2882103	2	1	174	1	0	0	0	0	0	0	0	1	17677	1045	37	1		1	ZG16B	16	2882103	Silent	SNP	G	TCGA-B0-5083-01A-02D-1421-08		2882103	87472650	49	10093											
IRX5	10265	broad.mit.edu	37	16	54966805	54966805	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr16:54966805C>T	ENST00000394636.4	+	2	982	c.645C>T	c.(643-645)ggC>ggT	p.G215G	CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Silent_p.G215G|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.G149G			P78411	IRX5_HUMAN	iroquois homeobox 5	215					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACCCCGAGGGCCCCGAAGCAG	0.647																																																0													63	79	73					16																	54966805		2198	4300	6498	SO:0001819	synonymous_variant	10265			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.645C>T	16.37:g.54966805C>T			H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	CCDS10751.1																																																																																				0.647	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			T	54966805	C	T	54966805	2	4	174	1	0	0	0	0	0	0	0	1	7849	726	26	2		2	IRX5	16	54966805	Silent	SNP	C	TCGA-B0-5083-01A-02D-1421-08	52084702	54966805	35387948	50	10094											
TMED6	146456	broad.mit.edu	37	16	69377539	69377539	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr16:69377539C>T	ENST00000288025.3	-	4	549	c.494G>A	c.(493-495)gGc>gAc	p.G165D	RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	165					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						CTTTTGTGTGCCGTCCTATGA	0.428																																																0													103	100	101					16																	69377539		2198	4300	6498	SO:0001583	missense	146456			BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.494G>A	16.37:g.69377539C>T	ENSP00000288025:p.Gly165Asp		Q6UXN5	Missense_Mutation	SNP	ENST00000288025.3	37	CCDS10878.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858630	0.32791	.	.	ENSG00000157315	ENST00000288025	T	0.16324	2.35	5.71	5.71	0.89125	GOLD (1);	0.272209	0.47455	D	0.000224	T	0.12305	0.0299	N	0.08118	0	0.26769	N	0.969839	B	0.12013	0.005	B	0.14023	0.01	T	0.23476	-1.0187	10	0.54805	T	0.06	-9.8117	19.8647	0.96799	0.0:1.0:0.0:0.0	.	165	Q8WW62	TMED6_HUMAN	D	165	ENSP00000288025:G165D	ENSP00000288025:G165D	G	-	2	0	TMED6	67935040	1.000000	0.71417	0.983000	0.44433	0.059000	0.15707	3.232000	0.51302	2.684000	0.91462	0.561000	0.74099	GGC		0.428	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		T	69377539	C	T	69377539	3	4	174	1	0	0	0	0	1	0	0	0	16013	739	26	2	232	2	TMED6	16	69377539	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	14410734	69377539	20977214	51	10095											
SLC6A4	6532	broad.mit.edu	37	17	28545934	28545934	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr17:28545934G>A	ENST00000401766.2	-	3	871	c.359C>T	c.(358-360)cCc>cTc	p.P120L	SLC6A4_ENST00000261707.3_Missense_Mutation_p.P120L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	120					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GATGGTGTAGGGGAGGAGGAA	0.512																																																0													111	104	106					17																	28545934		2203	4300	6503	SO:0001583	missense	6532			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.359C>T	17.37:g.28545934G>A	ENSP00000385822:p.Pro120Leu		Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364063	0.95877	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	D;D	0.86865	-2.18;-2.18	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95143	0.8426	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95681	0.8732	10	0.87932	D	0	.	18.8371	0.92167	0.0:0.0:1.0:0.0	.	120	P31645	SC6A4_HUMAN	L	162;120;120	ENSP00000385822:P120L;ENSP00000261707:P120L	ENSP00000261707:P120L	P	-	2	0	SLC6A4	25570060	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.864000	0.99589	2.689000	0.91719	0.655000	0.94253	CCC		0.512	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		A	28545934	G	A	28545934	3	1	174	1	0	0	0	0	1	0	0	0	14692	1232	43	2	1581	2	SLC6A4	17	28545934	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08		28545934	52649276	52	10096											
RHBDL3	162494	broad.mit.edu	37	17	30643271	30643271	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr17:30643271C>T	ENST00000269051.4	+	8	917	c.903C>T	c.(901-903)tgC>tgT	p.C301C	RHBDL3_ENST00000538145.1_Silent_p.C293C|RHBDL3_ENST00000536287.1_Silent_p.C203C	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	301						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GCATGAAGTGCCAGTTCAAGC	0.522																																																0													173	174	174					17																	30643271		2203	4300	6503	SO:0001819	synonymous_variant	162494			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.903C>T	17.37:g.30643271C>T			A6NMH1|Q495Y4|Q495Y5|Q495Y6	Silent	SNP	ENST00000269051.4	37	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920313	0.33908	.	.	ENSG00000141314	ENST00000431505	T	0.63913	-0.07	5.56	-1.27	0.09347	.	.	.	.	.	T	0.46541	0.1398	.	.	.	0.80722	D	1	B	0.18013	0.025	B	0.23574	0.047	T	0.25572	-1.0128	8	0.21540	T	0.41	.	12.6009	0.56497	0.0:0.6777:0.0:0.3223	.	268	E9PD28	.	S	268	ENSP00000394849:P268S	ENSP00000394849:P268S	P	+	1	0	RHBDL3	27667384	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	0.707000	0.25704	-0.064000	0.13043	-0.244000	0.11960	CCA		0.522	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		T	30643271	C	T	30643271	2	4	174	1	0	0	0	0	0	0	0	1	13329	747	26	2		2	RHBDL3	17	30643271	Silent	SNP	C	TCGA-B0-5083-01A-02D-1421-08	2097337	30643271	50551939	53	10097											
YPEL2	388403	broad.mit.edu	37	17	57466804	57466804	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr17:57466804G>A	ENST00000312655.4	+	4	563	c.245G>A	c.(244-246)tGc>tAc	p.C82Y	YPEL2_ENST00000581865.1_3'UTR|YPEL2_ENST00000585166.1_Missense_Mutation_p.C82Y	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	82						nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TGTGAAAACTGCAAAACCACT	0.483																																					Melanoma(86;1113 1364 8518 42220 42625)											0													84	72	76					17																	57466804		2203	4300	6503	SO:0001583	missense	388403			AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.245G>A	17.37:g.57466804G>A	ENSP00000312272:p.Cys82Tyr		A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Missense_Mutation	SNP	ENST00000312655.4	37	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004192	0.93287	.	.	ENSG00000175155	ENST00000312655	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.90297	0.6965	H	0.97340	3.985	0.80722	D	1	D	0.67145	0.996	D	0.71870	0.975	D	0.92865	0.6309	9	0.87932	D	0	-4.0805	19.5633	0.95382	0.0:0.0:1.0:0.0	.	82	Q96QA6	YPEL2_HUMAN	Y	82	.	ENSP00000312272:C82Y	C	+	2	0	YPEL2	54821586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.869000	0.98440	0.558000	0.71614	TGC		0.483	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070		A	57466804	G	A	57466804	3	1	174	1	0	0	0	0	1	0	0	0	17495	1319	46	2	255	2	YPEL2	17	57466804	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08	26823533	57466804	23728406	54	10098											
RYR1	6261	broad.mit.edu	37	19	38946385	38946385	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr19:38946385C>T	ENST00000359596.3	+	16	1785	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N	RYR1_ENST00000360985.3_Silent_p.N595N|RYR1_ENST00000355481.4_Silent_p.N595N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	595	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATGGGAGGAACCACAAGGTCG	0.557																																																0													106	84	91					19																	38946385		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1785C>T	19.37:g.38946385C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38946385	C	T	38946385	2	4	174	1	0	0	0	0	0	0	0	1	13774	506	18	2		2	RYR1	19	38946385	Silent	SNP	C	TCGA-B0-5083-01A-02D-1421-08		38946385	20182598	55	10099											
ZNF28	7576	broad.mit.edu	37	19	53303044	53303044	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr19:53303044T>A	ENST00000457749.2	-	4	2173	c.2054A>T	c.(2053-2055)cAt>cTt	p.H685L	ZNF28_ENST00000360272.4_Missense_Mutation_p.H632L|ZNF28_ENST00000438150.2_Missense_Mutation_p.H632L|ZNF28_ENST00000414252.2_Missense_Mutation_p.H632L	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	685					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CTCTCCAGTATGAACTCTCTG	0.408																																																0													143	138	140					19																	53303044		2203	4300	6503	SO:0001583	missense	7576			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.2054A>T	19.37:g.53303044T>A	ENSP00000397693:p.His685Leu		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	17.20	3.328208	0.60743	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	1.94	1.94	0.25998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84871	0.5568	H	0.95917	3.74	0.33373	D	0.573797	D	0.76494	0.999	D	0.81914	0.995	D	0.87226	0.2257	9	0.87932	D	0	.	8.6682	0.34134	0.0:0.0:0.0:1.0	.	685	P17035	ZNF28_HUMAN	L	632;685;632;632	ENSP00000412143:H632L;ENSP00000397693:H685L;ENSP00000353410:H632L;ENSP00000444965:H632L	ENSP00000353410:H632L	H	-	2	0	ZNF28	57994856	0.993000	0.37304	0.008000	0.14137	0.034000	0.12701	3.449000	0.52950	0.889000	0.36185	0.372000	0.22366	CAT		0.408	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		A	53303044	T	A	53303044	3	1	174	1	0	0	0	0	1	0	0	0	17818	1464	51	5	106	5	ZNF28	19	53303044	Missense_Mutation	SNP	T	TCGA-B0-5083-01A-02D-1421-08	14356659	53303044	5825939	56	10100											
ZNF28	7576	broad.mit.edu	37	19	53304169	53304169	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr19:53304169C>T	ENST00000457749.2	-	4	1048	c.929G>A	c.(928-930)cGc>cAc	p.R310H	ZNF28_ENST00000360272.4_Missense_Mutation_p.R257H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R257H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R257H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.383																																																0													134	133	133					19																	53304169		2203	4300	6503	SO:0001583	missense	7576			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.929G>A	19.37:g.53304169C>T	ENSP00000397693:p.Arg310His		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	4.654	0.121552	0.08881	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	1.2	-2.4	0.06583	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	L	0.56280	1.765	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41360	-0.9513	9	0.26408	T	0.33	.	2.5864	0.04831	0.2165:0.35:0.0:0.4335	.	310	P17035	ZNF28_HUMAN	H	257;310;257;257;257	ENSP00000412143:R257H;ENSP00000397693:R310H;ENSP00000353410:R257H;ENSP00000444965:R257H;ENSP00000375661:R257H	ENSP00000353410:R257H	R	-	2	0	ZNF28	57995981	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-4.691000	0.00198	-1.155000	0.02822	0.186000	0.17326	CGC		0.383	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		T	53304169	C	T	53304169	3	4	174	1	0	0	0	0	1	0	0	0	17818	768	27	1	1231	1	ZNF28	19	53304169	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	1125	53304169	5824814	57	10101											
NLRP4	147945	broad.mit.edu	37	19	56370138	56370138	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr19:56370138C>T	ENST00000301295.6	+	3	1801	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	NLRP4_ENST00000346986.5_Missense_Mutation_p.A460V|NLRP4_ENST00000587891.1_Missense_Mutation_p.A385V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	460	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAGTTCTGTGCCGCCTTGTTC	0.512																																																0													148	143	145					19																	56370138		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1379C>T	19.37:g.56370138C>T	ENSP00000301295:p.Ala460Val		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726560	0.48833	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.90133	-2.62;-2.62	4.1	3.06	0.35304	.	.	.	.	.	D	0.95172	0.8435	M	0.88450	2.955	0.35399	D	0.791452	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.979;0.936	D	0.96472	0.9349	9	0.87932	D	0	.	9.8202	0.40878	0.0:0.8973:0.0:0.1027	.	460;385;460	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	V	460	ENSP00000301295:A460V;ENSP00000344787:A460V	ENSP00000301295:A460V	A	+	2	0	NLRP4	61061950	1.000000	0.71417	0.610000	0.28997	0.158000	0.22134	5.535000	0.67173	1.075000	0.40932	-0.136000	0.14681	GCC		0.512	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		T	56370138	C	T	56370138	3	4	174	1	0	0	0	0	1	0	0	0	10481	739	26	2	1385	2	NLRP4	19	56370138	Missense_Mutation	SNP	C	TCGA-B0-5083-01A-02D-1421-08	3065969	56370138	2758845	58	10102											
ZNF70	7621	broad.mit.edu	37	22	24087079	24087079	+	Silent	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr22:24087079G>A	ENST00000341976.3	-	2	709	c.249C>T	c.(247-249)acC>acT	p.T83T		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CCTGGGGTCTGGTTCCTGGGG	0.498																																																0													143	138	140					22																	24087079		2203	4300	6503	SO:0001819	synonymous_variant	7621			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.249C>T	22.37:g.24087079G>A				Silent	SNP	ENST00000341976.3	37	CCDS13812.1																																																																																				0.498	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		A	24087079	G	A	24087079	2	1	174	1	0	0	0	0	0	0	0	1	18108	1335	47	2		2	ZNF70	22	24087079	Silent	SNP	G	TCGA-B0-5083-01A-02D-1421-08		24087079	27217487	59	10103											
SEZ6L	23544	broad.mit.edu	37	22	26709759	26709759	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr22:26709759G>T	ENST00000248933.6	+	9	2001	c.1906G>T	c.(1906-1908)Gct>Tct	p.A636S	SEZ6L_ENST00000343706.4_Missense_Mutation_p.A636S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.A409S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.A409S|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A636S|SEZ6L_ENST00000529632.2_Missense_Mutation_p.A636S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A636S			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	636	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCTGCTGTGGCTGGGGTGGT	0.502																																																0													146	135	139					22																	26709759		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1906G>T	22.37:g.26709759G>T	ENSP00000248933:p.Ala636Ser		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709257	0.48517	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	4.78	4.78	0.61160	CUB (5);	0.000000	0.56097	D	0.000031	T	0.13030	0.0316	N	0.04148	-0.265	0.80722	D	1	P;B;B;P;B;B;B	0.39883	0.693;0.197;0.304;0.545;0.36;0.197;0.197	P;B;B;B;B;B;B	0.44990	0.466;0.101;0.101;0.209;0.161;0.101;0.101	T	0.28427	-1.0044	10	0.44086	T	0.13	.	17.0225	0.86437	0.0:0.0:1.0:0.0	.	636;636;409;636;636;636;636	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	S	636;636;636;636;636;409;409	ENSP00000384772:A636S;ENSP00000437037:A636S;ENSP00000354185:A636S;ENSP00000248933:A636S;ENSP00000342661:A636S;ENSP00000384838:A409S;ENSP00000384733:A409S	ENSP00000248933:A636S	A	+	1	0	SEZ6L	25039759	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.040000	0.64191	2.492000	0.84095	0.655000	0.94253	GCT		0.502	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			T	26709759	G	T	26709759	3	4	174	1	0	0	0	0	1	0	0	0	14149	1203	42	4	1940	4	SEZ6L	22	26709759	Missense_Mutation	SNP	G	TCGA-B0-5083-01A-02D-1421-08	2622680	26709759	24594807	60	10104											
HPCA	3208	broad.mit.edu	37	1	33359401	33359401	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:33359401delA	ENST00000373467.3	+	4	622	c.520delA	c.(520-522)aaafs	p.K174fs	TMEM54_ENST00000475208.1_5'Flank	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	174	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCGCGGGGCCAAAAGCGACCC	0.692																																																0													30	26	27					1																	33359401		2198	4294	6492	SO:0001589	frameshift_variant	3208			BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"EF-hand domain containing"	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.520delA	1.37:g.33359401delA	ENSP00000362566:p.Lys174fs		B2R9T3|D3DPQ7|P32076|P41211|P70510	Frame_Shift_Del	DEL	ENST00000373467.3	37	CCDS370.1																																																																																				0.692	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143		-	33359401	A	-	33359401	7	5	175	1	0	1	0	1	0	0	0	0	7331	131	5	0	530	0	HPCA	1	33359401	Frame_Shift_Del	DEL	A	TCGA-B0-5084-01A-01D-1462-08		33359401	215891220	1	10105											
ANKRD34A	284615	broad.mit.edu	37	1	145474332	145474332	+	Missense_Mutation	SNP	G	G	C	rs201099605		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:145474332G>C	ENST00000323397.4	+	4	2297	c.1004G>C	c.(1003-1005)cGc>cCc	p.R335P	LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	335	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAACTGAGCCGCATGGAGCCA	0.652																																																0													42	46	44					1																	145474332		2203	4300	6503	SO:0001583	missense	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1004G>C	1.37:g.145474332G>C	ENSP00000314103:p.Arg335Pro		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164945	0.38217	.	.	ENSG00000181039	ENST00000323397	T	0.75260	-0.92	5.12	5.12	0.69794	.	0.568387	0.17016	N	0.190303	T	0.68311	0.2987	L	0.42245	1.32	0.44956	D	0.997971	D	0.67145	0.996	P	0.52514	0.701	T	0.64210	-0.6461	10	0.26408	T	0.33	-12.4919	16.1417	0.81533	0.0:0.0:1.0:0.0	.	335	Q69YU3	AN34A_HUMAN	P	335	ENSP00000314103:R335P	ENSP00000314103:R335P	R	+	2	0	ANKRD34A	144185689	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.003000	0.57061	2.663000	0.90544	0.585000	0.79938	CGC		0.652	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			C	145474332	G	C	145474332	3	2	175	1	0	0	0	0	1	0	0	0	662	1087	38	4	1006	4	ANKRD34A	1	145474332	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08	112114931	145474332	103776289	2	10106											
ILDR2	387597	broad.mit.edu	37	1	166890437	166890437	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:166890437G>A	ENST00000271417.3	-	9	1446	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V	ILDR2_ENST00000526687.1_Missense_Mutation_p.A356V|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.A337V|ILDR2_ENST00000529071.1_Missense_Mutation_p.A445V|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.A405V	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	464					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCCGCTGTGCGCCCGCGACTC	0.726																																																0													4	6	5					1																	166890437		1698	3548	5246	SO:0001583	missense	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1391C>T	1.37:g.166890437G>A	ENSP00000271417:p.Ala464Val			Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507351	0.27036	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T	0.77877	0.47;-1.13;0.47;-1.13;-0.13	4.28	3.36	0.38483	.	0.681492	0.13310	N	0.397564	T	0.46034	0.1372	L	0.50333	1.59	0.09310	N	1	P	0.36483	0.555	B	0.26693	0.072	T	0.14364	-1.0475	10	0.25751	T	0.34	-3.6725	6.8907	0.24228	0.1032:0.24:0.6567:0.0	.	464	Q71H61	ILDR2_HUMAN	V	464;337;445;356;405	ENSP00000271417:A464V;ENSP00000436120:A337V;ENSP00000436882:A445V;ENSP00000434273:A356V;ENSP00000432750:A405V	ENSP00000271417:A464V	A	-	2	0	ILDR2	165157061	0.999000	0.42202	0.013000	0.15412	0.011000	0.07611	1.913000	0.39956	0.787000	0.33731	-0.259000	0.10710	GCG		0.726	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		A	166890437	G	A	166890437	3	1	175	1	0	0	0	0	1	0	0	0	7712	1087	38	1	536	1	ILDR2	1	166890437	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08	21416105	166890437	82360184	3	10107											
SLC30A1	7779	broad.mit.edu	37	1	211749361	211749361	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:211749361A>T	ENST00000367001.4	-	2	1022	c.893T>A	c.(892-894)aTt>aAt	p.I298N		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	298					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AGTACTATTAATTATTTCTAC	0.373																																																0													122	130	127					1																	211749361		2203	4300	6503	SO:0001583	missense	7779			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"Solute carriers"	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.893T>A	1.37:g.211749361A>T	ENSP00000355968:p.Ile298Asn		Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	A	8.847	0.943553	0.18281	.	.	ENSG00000170385	ENST00000367001	T	0.65549	-0.16	5.44	4.24	0.50183	.	0.316520	0.33496	N	0.004844	T	0.31136	0.0787	N	0.02539	-0.55	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.10613	-1.0622	10	0.23891	T	0.37	-3.7793	6.6251	0.22824	0.7872:0.0:0.0746:0.1382	.	298	Q9Y6M5	ZNT1_HUMAN	N	298	ENSP00000355968:I298N	ENSP00000355968:I298N	I	-	2	0	SLC30A1	209815984	0.009000	0.17119	0.339000	0.25562	0.969000	0.65631	1.387000	0.34430	2.061000	0.61500	0.460000	0.39030	ATT		0.373	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			T	211749361	A	T	211749361	3	4	175	1	0	0	0	0	1	0	0	0	14559	101	4	5	634	5	SLC30A1	1	211749361	Missense_Mutation	SNP	A	TCGA-B0-5084-01A-01D-1462-08	44858924	211749361	37501260	4	10108											
CAPN2	824	broad.mit.edu	37	1	223940503	223940503	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:223940503C>G	ENST00000295006.5	+	9	1289	c.980C>G	c.(979-981)tCt>tGt	p.S327C	CAPN2_ENST00000433674.2_Missense_Mutation_p.S249C	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	327	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GCCAGGATGTCTTTCAGTGAC	0.502																																																0													87	72	77					1																	223940503		2203	4300	6503	SO:0001583	missense	824			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.980C>G	1.37:g.223940503C>G	ENSP00000295006:p.Ser327Cys		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261895	0.80358	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.91945	-2.94;-2.94	5.74	5.74	0.90152	Peptidase C2, calpain, catalytic domain (3);	0.164446	0.56097	D	0.000031	D	0.95752	0.8618	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.986	D	0.95724	0.8769	10	0.66056	D	0.02	.	15.0503	0.71862	0.0:0.9302:0.0:0.0698	.	249;327	B7ZA96;P17655	.;CAN2_HUMAN	C	249;327;356	ENSP00000413158:S249C;ENSP00000295006:S327C	ENSP00000295006:S327C	S	+	2	0	CAPN2	222007126	1.000000	0.71417	0.962000	0.40283	0.821000	0.46438	6.094000	0.71431	2.709000	0.92574	0.655000	0.94253	TCT		0.502	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		G	223940503	C	G	223940503	3	3	175	1	0	0	0	0	1	0	0	0	2629	913	32	4	1021	4	CAPN2	1	223940503	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08	12191142	223940503	25310118	5	10109											
POMC	5443	broad.mit.edu	37	2	25384345	25384345	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:25384345G>A	ENST00000405623.1	-	3	864	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	POMC_ENST00000395826.2_Missense_Mutation_p.R137C|POMC_ENST00000264708.3_Missense_Mutation_p.R137C|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000380794.1_Missense_Mutation_p.R137C			P01189	COLI_HUMAN	proopiomelanocortin	137					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GAGTAGGAGCGCTTGCCCTCG	0.726																																					Colon(110;1515 1566 8452 10082 43216)											0													9	10	10					2																	25384345		2157	4239	6396	SO:0001583	missense	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.409C>T	2.37:g.25384345G>A	ENSP00000384092:p.Arg137Cys		P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224818	0.79576	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.73	5.16	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91189	0.4982	10	0.87932	D	0	-5.7793	13.5313	0.61623	0.0:0.0:0.7601:0.2399	.	137	P01189	COLI_HUMAN	C	137	ENSP00000370171:R137C;ENSP00000384092:R137C;ENSP00000264708:R137C;ENSP00000379170:R137C;ENSP00000387993:R137C	ENSP00000264708:R137C	R	-	1	0	POMC	25237849	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.185000	0.58330	2.409000	0.81822	0.462000	0.41574	CGC		0.726	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		A	25384345	G	A	25384345	3	1	175	1	0	0	0	0	1	0	0	0	12244	1087	38	1	398	1	POMC	2	25384345	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08		25384345	217815028	6	10110											
XIRP2	129446	broad.mit.edu	37	2	168100111	168100111	+	Missense_Mutation	SNP	G	G	A	rs201995517		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:168100111G>A	ENST00000409195.1	+	9	2298	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	562					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAATGTTTCGAAACTCAACC	0.373																																																0								G	LYS/GLU,LYS/GLU,,,	1,3701		0,1,1850	58	55	56		1543,2209,,,	5.9	1	2		56	4,8172		0,4,4084	yes	missense,missense,intron,intron,intron	XIRP2	NM_001199144.1,NM_152381.5,NM_001079810.3,NM_001199143.1,NM_001199145.1	56,56,,,	0,5,5934	AA,AG,GG		0.0489,0.027,0.0421	probably-damaging,probably-damaging,,,	515/3328,737/3550,,,	168100111	5,11873	1851	4088	5939	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2209G>A	2.37:g.168100111G>A	ENSP00000386840:p.Glu737Lys		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390983	0.82902	2.7E-4	4.89E-4	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03330	3.97;3.97;3.97	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.993;0.993	T	0.00180	-1.1949	10	0.66056	D	0.02	-23.554	19.9164	0.97064	0.0:0.0:1.0:0.0	.	562;562;515	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	737;737;515	ENSP00000386840:E737K;ENSP00000295237:E737K;ENSP00000387255:E515K	ENSP00000295237:E737K	E	+	1	0	XIRP2	167808357	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.380000	0.66202	2.810000	0.96702	0.650000	0.86243	GAA		0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168100111	G	A	168100111	3	1	175	1	0	0	0	0	1	0	0	0	17435	1059	37	1	2239	1	XIRP2	2	168100111	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08	142715766	168100111	75099262	7	10111											
USP37	57695	broad.mit.edu	37	2	219330803	219330803	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:219330803T>C	ENST00000258399.3	-	21	2808	c.2396A>G	c.(2395-2397)cAg>cGg	p.Q799R	USP37_ENST00000454775.1_Missense_Mutation_p.Q799R|USP37_ENST00000418019.1_Missense_Mutation_p.Q799R|USP37_ENST00000415516.1_Missense_Mutation_p.Q705R	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	799	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CATATCATACTGCTGGAGCCA	0.423																																																0													174	167	170					2																	219330803		2203	4300	6503	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2396A>G	2.37:g.219330803T>C	ENSP00000258399:p.Gln799Arg		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752562	0.89753	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.50001	0.84;0.84;0.76;0.84	5.46	5.46	0.80206	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	L	0.61218	1.895	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.76071	0.979;0.987	T	0.68674	-0.5346	10	0.87932	D	0	-8.0988	14.2727	0.66162	0.0:0.0:0.0:1.0	.	705;799	Q86T82-2;Q86T82	.;UBP37_HUMAN	R	799;799;705;799	ENSP00000258399:Q799R;ENSP00000393662:Q799R;ENSP00000400902:Q705R;ENSP00000396585:Q799R	ENSP00000258399:Q799R	Q	-	2	0	USP37	219039047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.394000	0.79862	2.291000	0.77112	0.533000	0.62120	CAG		0.423	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		C	219330803	T	C	219330803	3	2	175	1	0	0	0	0	1	0	0	0	17073	1580	55	3	567	3	USP37	2	219330803	Missense_Mutation	SNP	T	TCGA-B0-5084-01A-01D-1462-08	51230692	219330803	23868570	8	10112											
CAPN10	11132	broad.mit.edu	37	2	241531379	241531379	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:241531379C>T	ENST00000391984.2	+	4	696	c.500C>T	c.(499-501)gCc>gTc	p.A167V	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.A167V|CAPN10_ENST00000391982.2_Missense_Mutation_p.A167V|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.A167V	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	167	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CACCTGTGGGCCGGGCAGGTG	0.642																																																0													35	40	38					2																	241531379		2202	4299	6501	SO:0001583	missense	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.500C>T	2.37:g.241531379C>T	ENSP00000375844:p.Ala167Val		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842100	0.91197	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000354082;ENST00000432084	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	4.37	4.37	0.52481	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	M	0.81682	2.555	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.994;0.997	D	0.94149	0.7404	10	0.87932	D	0	.	14.4145	0.67139	0.0:1.0:0.0:0.0	.	167;167;167;167	B7Z6G3;B7WPF5;Q9HC96-3;Q9HC96	.;.;.;CAN10_HUMAN	V	167;167;167;167;11	ENSP00000375844:A167V;ENSP00000375842:A167V;ENSP00000384422:A167V;ENSP00000270362:A167V;ENSP00000407090:A11V	ENSP00000270362:A167V	A	+	2	0	CAPN10	241180052	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.950000	0.75977	1.986000	0.57962	0.655000	0.94253	GCC		0.642	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		T	241531379	C	T	241531379	3	4	175	1	0	0	0	0	1	0	0	0	2625	739	26	2	514	2	CAPN10	2	241531379	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08	22200576	241531379	1667994	9	10113											
TBC1D5	9779	broad.mit.edu	37	3	17226605	17226605	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:17226605A>C	ENST00000253692.7	-	19	3512	c.1848T>G	c.(1846-1848)caT>caG	p.H616Q	TBC1D5_ENST00000429924.2_Missense_Mutation_p.H590Q|TBC1D5_ENST00000429383.4_Missense_Mutation_p.H616Q|TBC1D5_ENST00000446818.2_Missense_Mutation_p.H638Q|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	616						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ACTTACCAAGATGAGTGTCCA	0.423																																																0													148	123	132					3																	17226605		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1848T>G	3.37:g.17226605A>C	ENSP00000253692:p.His616Gln		A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578631	0.46006	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.67865	1.39;1.39;1.39;-0.29	5.87	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	L	0.27053	0.805	0.53688	D	0.999979	D;D;D;D	0.89917	0.999;1.0;0.997;0.997	D;D;P;P	0.78314	0.991;0.972;0.897;0.897	T	0.67711	-0.5600	10	0.46703	T	0.11	-25.1933	10.293	0.43608	0.8398:0.0:0.1602:0.0	.	590;638;616;616	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	Q	616;616;638;590	ENSP00000253692:H616Q;ENSP00000398127:H616Q;ENSP00000402935:H638Q;ENSP00000411925:H590Q	ENSP00000253692:H616Q	H	-	3	2	TBC1D5	17201609	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	2.700000	0.47085	1.053000	0.40415	0.533000	0.62120	CAT		0.423	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		C	17226605	A	C	17226605	3	2	175	1	0	0	0	0	1	0	0	0	15628	330	12	5	555	5	TBC1D5	3	17226605	Missense_Mutation	SNP	A	TCGA-B0-5084-01A-01D-1462-08		17226605	180795825	10	10114											
KCNH8	131096	broad.mit.edu	37	3	19554581	19554581	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:19554581G>T	ENST00000328405.2	+	13	2465	c.2199G>T	c.(2197-2199)agG>agT	p.R733S		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	733					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCTGCACAAGGGGATCTTCTT	0.542																																					NSCLC(124;1625 1765 8018 24930 42026)											0													73	61	65					3																	19554581		2203	4300	6503	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2199G>T	3.37:g.19554581G>T	ENSP00000328813:p.Arg733Ser		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	6.620	0.482800	0.12581	.	.	ENSG00000183960	ENST00000328405	D	0.98381	-4.9	5.68	1.36	0.22044	.	0.000000	0.34245	U	0.004123	D	0.94820	0.8327	L	0.44542	1.39	0.33562	D	0.597511	B	0.09022	0.002	B	0.06405	0.002	D	0.91069	0.4891	9	.	.	.	.	7.7607	0.28951	0.4795:0.0:0.5205:0.0	.	733	Q96L42	KCNH8_HUMAN	S	733	ENSP00000328813:R733S	.	R	+	3	2	KCNH8	19529585	0.992000	0.36948	0.183000	0.23137	0.436000	0.31835	0.783000	0.26802	0.342000	0.23796	0.585000	0.79938	AGG		0.542	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		T	19554581	G	T	19554581	3	4	175	1	0	0	0	0	1	0	0	0	8040	1223	43	4	2249	4	KCNH8	3	19554581	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08	2327976	19554581	178467849	11	10115											
COL6A5	256076	broad.mit.edu	37	3	130162344	130162344	+	Missense_Mutation	SNP	C	C	T	rs372980455		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:130162344C>T	ENST00000432398.2	+	36	7006	c.6512C>T	c.(6511-6513)cCg>cTg	p.P2171L	COL6A5_ENST00000265379.6_Missense_Mutation_p.P2171L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2171	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TACCCACCACCGATGCTTGAG	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		19240	0.0		0.0	False		,,,				2504	0.001															0								C	LEU/PRO	0,3702		0,0,1851	95	91	92		6512	0.7	0	3		92	1,8205		0,1,4102	no	missense	COL6A5	NM_153264.5	98	0,1,5953	TT,TC,CC		0.0122,0.0,0.0084	benign	2171/2527	130162344	1,11907	1851	4103	5954	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6512C>T	3.37:g.130162344C>T	ENSP00000390895:p.Pro2171Leu		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	C	8.657	0.899548	0.17686	0.0	1.22E-4	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	D;D;T;D	0.90955	-2.68;-2.76;-1.33;-1.64	4.67	0.715	0.18186	.	0.598474	0.14883	N	0.292846	D	0.84745	0.5540	L	0.55103	1.725	0.09310	N	1	B;B	0.17465	0.013;0.022	B;B	0.09377	0.004;0.004	T	0.71958	-0.4435	10	0.39692	T	0.17	.	4.7884	0.13236	0.1504:0.5922:0.0:0.2574	.	2171;2171	A8TX70;A8TX70-2	CO6A5_HUMAN;.	L	2171;2171;114;6	ENSP00000390895:P2171L;ENSP00000265379:P2171L;ENSP00000362250:P114L;ENSP00000424968:P6L	ENSP00000265379:P2171L	P	+	2	0	COL6A5	131645034	0.000000	0.05858	0.018000	0.16275	0.108000	0.19459	-0.404000	0.07205	0.015000	0.14971	0.544000	0.68410	CCG		0.373	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130162344	C	T	130162344	3	4	175	1	0	0	0	0	1	0	0	0	3704	652	23	1	6650	1	COL6A5	3	130162344	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08	110607763	130162344	67860086	12	10116											
OTOL1	131149	broad.mit.edu	37	3	161220146	161220146	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:161220146C>T	ENST00000327928.4	+	3	506	c.506C>T	c.(505-507)cCg>cTg	p.P169L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	169	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCAGGAAAACCGGGAGCACAA	0.413																																																0													57	57	57					3																	161220146		1917	4135	6052	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.506C>T	3.37:g.161220146C>T	ENSP00000330808:p.Pro169Leu			Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869607	0.72065	.	.	ENSG00000182447	ENST00000327928	D	0.92495	-3.05	4.84	4.84	0.62591	.	0.054326	0.85682	D	0.000000	D	0.95143	0.8426	M	0.71920	2.185	0.47308	D	0.999388	D	0.89917	1.0	D	0.79108	0.992	D	0.95221	0.8334	10	0.59425	D	0.04	.	13.4571	0.61206	0.0:1.0:0.0:0.0	.	169	A6NHN0	OTOL1_HUMAN	L	169	ENSP00000330808:P169L	ENSP00000330808:P169L	P	+	2	0	OTOL1	162702840	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	4.319000	0.59197	2.219000	0.72066	0.563000	0.77884	CCG		0.413	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		T	161220146	C	T	161220146	3	4	175	1	0	0	0	0	1	0	0	0	11306	652	23	1	516	1	OTOL1	3	161220146	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08	31057802	161220146	36802284	13	10117											
IRX1	79192	broad.mit.edu	37	5	3599646	3599646	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:3599646C>A	ENST00000302006.3	+	2	636	c.584C>A	c.(583-585)gCg>gAg	p.A195E	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	195					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACATGGGGAGCGCGCAGCAAG	0.632																																																0													87	75	79					5																	3599646		2203	4300	6503	SO:0001583	missense	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.584C>A	5.37:g.3599646C>A	ENSP00000305244:p.Ala195Glu		Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288624	0.23478	.	.	ENSG00000170549	ENST00000302006	T	0.58210	0.35	4.65	3.78	0.43462	Homeodomain-related (1);	0.276248	0.35320	N	0.003282	T	0.42743	0.1216	L	0.36672	1.1	0.40462	D	0.98025	P	0.38745	0.645	B	0.37304	0.246	T	0.41592	-0.9500	10	0.51188	T	0.08	.	12.3445	0.55114	0.0:0.9163:0.0:0.0837	.	195	P78414	IRX1_HUMAN	E	195	ENSP00000305244:A195E	ENSP00000305244:A195E	A	+	2	0	IRX1	3652646	0.677000	0.27577	0.761000	0.31378	0.272000	0.26649	4.823000	0.62694	0.921000	0.36994	-0.192000	0.12808	GCG		0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		A	3599646	C	A	3599646	3	1	175	1	0	0	0	0	1	0	0	0	7845	768	27	4	590	4	IRX1	5	3599646	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08		3599646	177315614	14	10118											
C7	730	broad.mit.edu	37	5	40959667	40959667	+	Missense_Mutation	SNP	G	G	A	rs200879856		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:40959667G>A	ENST00000313164.9	+	12	1965	c.1606G>A	c.(1606-1608)Gtt>Att	p.V536I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	536	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GAGATCCTGCGTTGGAGAAAC	0.542																																																0													69	77	75					5																	40959667		1994	4173	6167	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1606G>A	5.37:g.40959667G>A	ENSP00000322061:p.Val536Ile		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.566116	0.00903	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.53857	0.6	5.4	-5.66	0.02451	.	1.177670	0.06081	N	0.661790	T	0.24314	0.0589	N	0.04245	-0.25	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18524	-1.0334	10	0.19147	T	0.46	-2.3485	7.4849	0.27427	0.343:0.3111:0.3459:0.0	.	536	P10643	CO7_HUMAN	I	536;376	ENSP00000322061:V536I	ENSP00000322061:V536I	V	+	1	0	C7	40995424	0.083000	0.21467	0.252000	0.24328	0.097000	0.18754	0.312000	0.19397	-1.086000	0.03084	-0.598000	0.04106	GTT		0.542	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			A	40959667	G	A	40959667	3	1	175	1	0	0	0	0	1	0	0	0	2377	1145	40	1	1652	1	C7	5	40959667	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08	37360021	40959667	139955593	15	10119											
FER	2241	broad.mit.edu	37	5	108295006	108295006	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:108295006C>G	ENST00000281092.4	+	13	1998	c.1614C>G	c.(1612-1614)atC>atG	p.I538M	FER_ENST00000438717.2_Missense_Mutation_p.I363M|FER_ENST00000536402.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	538	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AACAGGTCATCACTAAGAAAT	0.358																																					Colon(146;1051 1799 9836 27344 47401)											0													137	132	134					5																	108295006		2202	4300	6502	SO:0001583	missense	2241			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1614C>G	5.37:g.108295006C>G	ENSP00000281092:p.Ile538Met		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617110	0.66672	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.76968	-1.06;-1.05	6.07	5.11	0.69529	Protein kinase-like domain (1);SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	L	0.35593	1.075	0.52099	D	0.999945	D	0.71674	0.998	D	0.78314	0.991	T	0.78843	-0.2044	10	0.72032	D	0.01	-11.4383	5.6724	0.17729	0.2024:0.6677:0.0:0.1299	.	538	P16591	FER_HUMAN	M	538;363	ENSP00000281092:I538M;ENSP00000394297:I363M	ENSP00000281092:I538M	I	+	3	3	FER	108322905	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.014000	0.29950	2.885000	0.99019	0.655000	0.94253	ATC		0.358	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		G	108295006	C	G	108295006	3	3	175	1	0	0	0	0	1	0	0	0	5815	816	29	4	1656	4	FER	5	108295006	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08	67335339	108295006	72620254	16	10120											
PCDHA4	56144	broad.mit.edu	37	5	140188641	140188641	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:140188641C>T	ENST00000530339.1	+	1	1869	c.1869C>T	c.(1867-1869)cgC>cgT	p.R623R	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R623R|PCDHA4_ENST00000356878.4_Silent_p.R623R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R623R(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.672																																																2	Substitution - coding silent(2)	prostate(2)											90	89	89					5																	140188641		2203	4299	6502	SO:0001819	synonymous_variant	56144			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1869C>T	5.37:g.140188641C>T			O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																				0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		T	140188641	C	T	140188641	2	4	175	1	0	0	0	0	0	0	0	1	11528	755	27	1		1	PCDHA4	5	140188641	Silent	SNP	C	TCGA-B0-5084-01A-01D-1462-08	31893635	140188641	40726619	17	10121											
NSD1	64324	broad.mit.edu	37	5	176637152	176637152	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:176637152delT	ENST00000439151.2	+	5	1797	c.1752delT	c.(1750-1752)actfs	p.T584fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.T315fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.T315fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.T481fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	584					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATTTGAGACTTCAAATGGTG	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													65	70	68					5																	176637152		2198	4298	6496	SO:0001589	frameshift_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1752delT	5.37:g.176637152delT	ENSP00000395929:p.Thr584fs		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	CCDS4412.1																																																																																				0.443	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		-	176637152	T	-	176637152	7	5	175	1	0	1	0	1	0	0	0	0	10671	1596	56	0	1766	0	NSD1	5	176637152	Frame_Shift_Del	DEL	T	TCGA-B0-5084-01A-01D-1462-08	36448511	176637152	4278108	18	10122											
ZNF451	26036	broad.mit.edu	37	6	57012950	57012950	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr6:57012950C>A	ENST00000370706.4	+	10	2311	c.2067C>A	c.(2065-2067)caC>caA	p.H689Q	ZNF451_ENST00000491832.2_Missense_Mutation_p.H689Q|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H689Q|RP11-203B9.4_ENST00000586053.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	689					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGAGGAGCACCACAGCATAG	0.343																																																0													47	47	47					6																	57012950		2203	4300	6503	SO:0001583	missense	26036			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2067C>A	6.37:g.57012950C>A	ENSP00000359740:p.His689Gln		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	5.363	0.252267	0.10185	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.20463	2.08;2.08;2.07	5.4	-2.92	0.05615	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	1.036270	0.07566	N	0.917763	T	0.03178	0.0093	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.001;0.002;0.001	T	0.49184	-0.8966	10	0.26408	T	0.33	0.4133	0.7942	0.01063	0.1916:0.1921:0.2829:0.3334	.	689;689;689;689	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	Q	689	ENSP00000359740:H689Q;ENSP00000350083:H689Q;ENSP00000421645:H689Q	ENSP00000350083:H689Q	H	+	3	2	ZNF451	57120909	0.000000	0.05858	0.338000	0.25549	0.995000	0.86356	-0.442000	0.06871	-0.895000	0.03920	0.557000	0.71058	CAC		0.343	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		A	57012950	C	A	57012950	3	1	175	1	0	0	0	0	1	0	0	0	17927	506	18	4	2105	4	ZNF451	6	57012950	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08		57012950	114102117	19	10123											
OCM	654231	broad.mit.edu	37	7	5922122	5922122	+	Splice_Site	SNP	A	A	T	rs193133847		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:5922122A>T	ENST00000242104.5	+	2	153		c.e2-1		OCM_ENST00000416608.1_Splice_Site	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin								calcium ion binding (GO:0005509)	p.?(1)		endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		TCTGTTCTTCAGACCCAGACA	0.408																																																1	Unknown(1)	endometrium(1)											119	122	121					7																	5922122		2203	4300	6503	SO:0001630	splice_region_variant	654231			BC069468	CCDS43548.1	7p22.1	2013-01-10						"EF-hand domain containing"	8105	protein-coding gene	gene with protein product	"oncomodulin 1"	164795				1559707, 8354278	Standard	NM_001097622		Approved	OCM1	uc003spe.4	P0CE72		ENST00000242104.5:c.62-1A>T	7.37:g.5922122A>T			B9EJH7|P32930|Q6ISI5|Q75MW0	Splice_Site	SNP	ENST00000242104.5	37	CCDS43548.1	.	.	.	.	.	.	.	.	.	.	a	16.94	3.261788	0.59431	.	.	ENSG00000122543	ENST00000416608;ENST00000242104	.	.	.	3.61	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.446	0.50123	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OCM	5888648	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	7.386000	0.79775	1.434000	0.47414	0.405000	0.27470	.		0.408	OCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340372.1	NM_001097622	Intron	T	5922122	A	T	5922122	5	4	175	1	0	0	0	0	0	0	1	0	10823	202	7	5	66	5	OCM	7	5922122	Splice_Site	SNP	A	TCGA-B0-5084-01A-01D-1462-08		5922122	153216541	20	10124											
RFC2	5982	broad.mit.edu	37	7	73661054	73661054	+	Silent	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:73661054A>G	ENST00000055077.3	-	5	432	c.372T>C	c.(370-372)gcT>gcC	p.A124A	RFC2_ENST00000352131.3_Intron	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	124					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CTTTTTGTTGAGCAAACATTT	0.413																																																0													184	170	175					7																	73661054		2203	4300	6503	SO:0001819	synonymous_variant	5982				CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"ATPases / AAA-type"	9970	protein-coding gene	gene with protein product	"activator 1"	600404	"replication factor C (activator 1) 2 (40kD)"			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.372T>C	7.37:g.73661054A>G			B5BU07|D3DXG3|P32846|Q9BU93	Silent	SNP	ENST00000055077.3	37	CCDS5568.1																																																																																				0.413	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471		G	73661054	A	G	73661054	2	3	175	1	0	0	0	0	0	0	0	1	13251	291	11	3		3	RFC2	7	73661054	Silent	SNP	A	TCGA-B0-5084-01A-01D-1462-08	67738932	73661054	85477609	21	10125											
LMTK2	22853	broad.mit.edu	37	7	97833456	97833456	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:97833456T>C	ENST00000297293.5	+	13	4734	c.4441T>C	c.(4441-4443)Ttt>Ctt	p.F1481L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1481				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CATTGCCAGCTTTTCCCTCAC	0.672																																																0													66	71	69					7																	97833456		2203	4300	6503	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4441T>C	7.37:g.97833456T>C	ENSP00000297293:p.Phe1481Leu		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	T	32	5.120299	0.94385	.	.	ENSG00000164715	ENST00000297293	D	0.87809	-2.3	5.36	4.2	0.49525	.	0.046649	0.85682	D	0.000000	D	0.83142	0.5190	M	0.64567	1.98	0.58432	D	0.999996	B	0.30664	0.289	B	0.24848	0.056	T	0.83136	-0.0111	10	0.56958	D	0.05	.	10.1657	0.42879	0.0:0.0786:0.0:0.9214	.	1481	Q8IWU2	LMTK2_HUMAN	L	1481	ENSP00000297293:F1481L	ENSP00000297293:F1481L	F	+	1	0	LMTK2	97671392	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.818000	0.62657	2.154000	0.67381	0.460000	0.39030	TTT		0.672	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		C	97833456	T	C	97833456	3	2	175	1	0	0	0	0	1	0	0	0	8861	1609	56	3	4491	3	LMTK2	7	97833456	Missense_Mutation	SNP	T	TCGA-B0-5084-01A-01D-1462-08	24172402	97833456	61305207	22	10126											
DOCK4	9732	broad.mit.edu	37	7	111387452	111387452	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:111387452C>T	ENST00000437633.1	-	42	4693	c.4437G>A	c.(4435-4437)aaG>aaA	p.K1479K	DOCK4_ENST00000494651.2_Silent_p.K362K|DOCK4_ENST00000428084.1_Silent_p.K1488K	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1479	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCTGCTGATTCTTATTTTCTA	0.368																																																0													85	83	84					7																	111387452		1907	4123	6030	SO:0001819	synonymous_variant	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4437G>A	7.37:g.111387452C>T			O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	8.918	0.960396	0.18507	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.27	4.1	0.47936	.	.	.	.	.	T	0.58481	0.2125	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54774	-0.8243	4	.	.	.	.	8.0926	0.30809	0.0:0.7198:0.0:0.2802	.	.	.	.	K	940;1512	.	.	R	-	2	0	DOCK4	111174688	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.706000	0.25690	1.062000	0.40625	0.655000	0.94253	AGA		0.368	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		T	111387452	C	T	111387452	2	4	175	1	0	0	0	0	0	0	0	1	4691	912	32	2		2	DOCK4	7	111387452	Silent	SNP	C	TCGA-B0-5084-01A-01D-1462-08	13553996	111387452	47751211	23	10127											
MGAM	8972	broad.mit.edu	37	7	141732690	141732690	+	Silent	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:141732690T>C	ENST00000549489.2	+	14	1745	c.1650T>C	c.(1648-1650)aaT>aaC	p.N550N	MGAM_ENST00000475668.2_Silent_p.N550N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	550	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAACCTAAATAATCCCCCAT	0.358																																																0													120	109	112					7																	141732690		1841	4092	5933	SO:0001819	synonymous_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1650T>C	7.37:g.141732690T>C			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																				0.358	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			C	141732690	T	C	141732690	2	2	175	1	0	0	0	0	0	0	0	1	9543	1403	49	3		3	MGAM	7	141732690	Silent	SNP	T	TCGA-B0-5084-01A-01D-1462-08	30345238	141732690	17405973	24	10128											
EIF3E	3646	broad.mit.edu	37	8	109260914	109260914	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr8:109260914C>A	ENST00000220849.5	-	1	80	c.18G>T	c.(16-18)ttG>ttT	p.L6F	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TGCGAGTAGTCAAGTCGTACT	0.498																																					GBM(15;360 410 8460 34179 52246)											0													88	78	81					8																	109260914		2203	4300	6503	SO:0001583	missense	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.18G>T	8.37:g.109260914C>A	ENSP00000220849:p.Leu6Phe			Missense_Mutation	SNP	ENST00000220849.5	37	CCDS6308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.062202|4.062202	0.76187|0.76187	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000220849;ENST00000519627|ENST00000521440	T;T|.	0.63744|.	-0.06;0.19|.	5.28|5.28	2.42|2.42	0.29668|0.29668	Eukaryotic translation initiation factor 3 (eIF3), subunit 6, N-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.76884|.	0.4050|.	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D;P;D|.	0.63880|.	0.993;0.946;0.993|.	D;P;D|.	0.70935|.	0.95;0.839;0.971|.	T|.	0.76537|.	-0.2923|.	10|.	0.87932|.	D|.	0|.	-10.6685|-10.6685	5.5956|5.5956	0.17325|0.17325	0.1378:0.6442:0.0:0.2181|0.1378:0.6442:0.0:0.2181	.|.	6;6;6|.	Q6IAX5;B2R806;P60228|.	.;.;EIF3E_HUMAN|.	F|L	6|5	ENSP00000220849:L6F;ENSP00000430839:L6F|.	ENSP00000220849:L6F|.	L|X	-|-	3|2	2|2	EIF3E|EIF3E	109330090|109330090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.471000|1.471000	0.35365|0.35365	0.809000|0.809000	0.34255|0.34255	-0.137000|-0.137000	0.14449|0.14449	TTG|TGA		0.498	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		A	109260914	C	A	109260914	3	1	175	1	0	0	0	0	1	0	0	0	5017	825	29	4	1371	4	EIF3E	8	109260914	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08		109260914	37103108	25	10129											
NOL6	65083	broad.mit.edu	37	9	33469503	33469503	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr9:33469503G>A	ENST00000379471.2	-	5	808	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.P181S			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	241					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TCACCACGCGGCCGCAGCAAC	0.597																																																0													89	87	87					9																	33469503		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.721C>T	9.37:g.33469503G>A	ENSP00000368784:p.Pro241Ser		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	G	19.82	3.898102	0.72639	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;D;D	0.83275	0.996;0.989;0.989;0.983;0.993	T	0.65985	-0.6035	10	0.36615	T	0.2	.	19.569	0.95405	0.0:0.0:1.0:0.0	.	181;241;241;241;241	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	S	241;241;241;241;181	ENSP00000313978:P241S;ENSP00000297990:P241S;ENSP00000368784:P241S;ENSP00000395915:P181S	ENSP00000297990:P241S	P	-	1	0	NOL6	33459503	1.000000	0.71417	0.998000	0.56505	0.551000	0.35334	6.473000	0.73572	2.636000	0.89361	0.561000	0.74099	CCG		0.597	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		A	33469503	G	A	33469503	3	1	175	1	0	0	0	0	1	0	0	0	10527	1203	42	2	2807	2	NOL6	9	33469503	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08		33469503	107743928	26	10130											
HIATL1	84641	broad.mit.edu	37	9	97209207	97209207	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr9:97209207T>C	ENST00000375344.3	+	7	1101	c.832T>C	c.(832-834)Tat>Cat	p.Y278H	HIATL1_ENST00000428393.2_Missense_Mutation_p.Y213H	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	278					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TTTTTTTCTCTATCTCAGGCA	0.388																																					Pancreas(77;1260 1915 1973 10423)											0													143	129	134					9																	97209207		2203	4300	6503	SO:0001583	missense	84641			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.832T>C	9.37:g.97209207T>C	ENSP00000364493:p.Tyr278His		B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224202	0.79576	.	.	ENSG00000148110	ENST00000375344;ENST00000428393	T;T	0.66815	-0.23;-0.23	4.73	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.47455	D	0.000222	D	0.84174	0.5414	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87265	0.2282	10	0.66056	D	0.02	-4.9866	12.5079	0.55991	0.0:0.0:0.0:1.0	.	213;278	B4DUE6;Q5SR56	.;HIAL1_HUMAN	H	278;213	ENSP00000364493:Y278H;ENSP00000405909:Y213H	ENSP00000364493:Y278H	Y	+	1	0	HIATL1	96249028	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.555000	0.82223	2.117000	0.64856	0.533000	0.62120	TAT		0.388	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		C	97209207	T	C	97209207	3	2	175	1	0	0	0	0	1	0	0	0	7100	1522	53	3	858	3	HIATL1	9	97209207	Missense_Mutation	SNP	T	TCGA-B0-5084-01A-01D-1462-08	63739704	97209207	44004224	27	10131											
NOTCH1	4851	broad.mit.edu	37	9	139401769	139401769	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr9:139401769G>A	ENST00000277541.6	-	22	3706	c.3631C>T	c.(3631-3633)Cgg>Tgg	p.R1211W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1211	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGAGTGCCCCGTGGGCAGGAG	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													35	40	38					9																	139401769		1999	4166	6165	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3631C>T	9.37:g.139401769G>A	ENSP00000277541:p.Arg1211Trp		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352190	0.61183	.	.	ENSG00000148400	ENST00000277541	D	0.92249	-3.0	5.13	1.79	0.24919	EGF (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	M	0.67569	2.06	0.50313	D	0.999867	D	0.89917	1.0	D	0.97110	1.0	D	0.92937	0.6369	10	0.54805	T	0.06	.	10.6478	0.45630	0.0:0.1041:0.593:0.3029	.	1211	P46531	NOTC1_HUMAN	W	1211	ENSP00000277541:R1211W	ENSP00000277541:R1211W	R	-	1	2	NOTCH1	138521590	1.000000	0.71417	0.987000	0.45799	0.645000	0.38454	1.742000	0.38248	0.520000	0.28426	-0.176000	0.13171	CGG		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		A	139401769	G	A	139401769	3	1	175	1	0	0	0	0	1	0	0	0	10549	1144	40	1	4088	1	NOTCH1	9	139401769	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08	42192562	139401769	1811662	28	10132											
TACC2	10579	broad.mit.edu	37	10	123844355	123844356	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr10:123844355_123844356insC	ENST00000369005.1	+	4	2680_2681	c.2340_2341insC	c.(2341-2343)cccfs	p.P781fs	TACC2_ENST00000515273.1_Frame_Shift_Ins_p.P781fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.P781fs|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.P781fs|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.P781fs|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	781					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGGTGCCACATCCCCCCCAGGG	0.639																																																0																																										SO:0001589	frameshift_variant	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2347dupC	10.37:g.123844362_123844362dupC	ENSP00000358001:p.Pro781fs		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Ins	INS	ENST00000369005.1	37	CCDS7626.1																																																																																				0.639	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			C	123844356	-	C	123844355	7	5	175	1	0	1	1	0	0	0	0	0	15507	1432	50	0	2350	0	TACC2	10	123844355	Frame_Shift_Ins	INS	-	TCGA-B0-5084-01A-01D-1462-08		123844355	11690392	29	10133											
ZBTB44	29068	broad.mit.edu	37	11	130131237	130131237	+	Silent	SNP	G	G	T	rs375001701		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr11:130131237G>T	ENST00000357899.4	-	2	804	c.532C>A	c.(532-534)Cga>Aga	p.R178R	ZBTB44_ENST00000397753.1_Silent_p.R178R|ZBTB44_ENST00000530205.1_Silent_p.R178R|ZBTB44_ENST00000525842.1_Silent_p.R178R			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CGGGATTCTCGGCAGACAGGA	0.443																																																0													71	67	68					11																	130131237		1926	4142	6068	SO:0001819	synonymous_variant	29068			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.532C>A	11.37:g.130131237G>T			Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37		.	.	.	.	.	.	.	.	.	.	G	6.553	0.470369	0.12461	.	.	ENSG00000196323	ENST00000527478	.	.	.	5.52	1.27	0.21489	.	.	.	.	.	T	0.68458	0.3003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65541	-0.6143	4	.	.	.	.	14.9652	0.71184	0.0:0.0:0.509:0.491	.	.	.	.	Q	174	.	.	P	-	2	0	ZBTB44	129636447	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.102000	0.50291	-0.023000	0.13963	-0.152000	0.13540	CCG		0.443	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		T	130131237	G	T	130131237	2	4	175	1	0	0	0	0	0	0	0	1	17550	1124	39	4		4	ZBTB44	11	130131237	Silent	SNP	G	TCGA-B0-5084-01A-01D-1462-08		130131237	4875279	30	10134											
CACNB3	784	broad.mit.edu	37	12	49221583	49221583	+	Silent	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:49221583G>A	ENST00000301050.2	+	13	1555	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	CACNB3_ENST00000547230.1_Silent_p.G411G|CACNB3_ENST00000540990.1_Silent_p.G439G|CACNB3_ENST00000547392.1_Silent_p.G425G|CACNB3_ENST00000536187.2_Silent_p.G451G	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	452					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGCTAACGGGCATGACCCCC	0.622																																																0													88	82	84					12																	49221583		2203	4300	6503	SO:0001819	synonymous_variant	784				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1356G>A	12.37:g.49221583G>A			A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	ENST00000301050.2	37	CCDS8769.1																																																																																				0.622	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			A	49221583	G	A	49221583	2	1	175	1	0	0	0	0	0	0	0	1	2556	1190	42	2		2	CACNB3	12	49221583	Silent	SNP	G	TCGA-B0-5084-01A-01D-1462-08		49221583	84630312	31	10135											
BIN2	51411	broad.mit.edu	37	12	51693052	51693055	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:51693052_51693055delTTTG	ENST00000267012.4	-	7	595_598	c.534_537delCAAA	c.(532-537)aacaaafs	p.NK178fs	BIN2_ENST00000544402.1_Frame_Shift_Del_p.NK152fs|BIN2_ENST00000604560.1_Frame_Shift_Del_p.NK151fs|BIN2_ENST00000452142.2_Frame_Shift_Del_p.NK146fs	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	178	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CAGTCTGGGCTTTGTTGAACTCTT	0.417																																																0																																										SO:0001589	frameshift_variant	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.534_537delCAAA	12.37:g.51693052_51693055delTTTG	ENSP00000267012:p.Asn178fs		Q86VV0|Q9NWK4|Q9UKN4	Frame_Shift_Del	DEL	ENST00000267012.4	37	CCDS8811.1																																																																																				0.417	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			-	51693055	TTTG	-	51693052	7	5	175	1	0	1	0	1	0	0	0	0	1433	1606	56	0	1188	0	BIN2	12	51693052	Frame_Shift_Del	DEL	TTTG	TCGA-B0-5084-01A-01D-1462-08	2471469	51693052	82158843	32	10136											
ATP5B	506	broad.mit.edu	37	12	57037243	57037243	+	Silent	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:57037243A>G	ENST00000262030.3	-	5	786	c.736T>C	c.(736-738)Tta>Cta	p.L246L	ATP5B_ENST00000552919.1_Silent_p.L246L|ATP5B_ENST00000550162.1_5'Flank|SNORD59A_ENST00000384304.1_RNA	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	246					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATGGTATAAATCATTGCCT	0.438																																																0													134	123	127					12																	57037243		2203	4300	6503	SO:0001819	synonymous_variant	506			M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.736T>C	12.37:g.57037243A>G			A8K4X0|Q14283	Silent	SNP	ENST00000262030.3	37	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329842	0.24167	.	.	ENSG00000110955	ENST00000552959	.	.	.	6.03	3.71	0.42584	.	.	.	.	.	T	0.59088	0.2168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55617	-0.8113	4	.	.	.	-8.0352	9.2371	0.37473	0.852:0.0:0.148:0.0	.	.	.	.	S	182	.	.	F	-	2	0	ATP5B	55323510	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.536000	0.53582	1.103000	0.41568	0.455000	0.32223	TTT		0.438	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		G	57037243	A	G	57037243	2	3	175	1	0	0	0	0	0	0	0	1	1148	11	1	3		3	ATP5B	12	57037243	Silent	SNP	A	TCGA-B0-5084-01A-01D-1462-08	5344191	57037243	76814652	33	10137											
OAS2	4939	broad.mit.edu	37	12	113446979	113446979	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:113446979G>T	ENST00000342315.4	+	10	2197	c.1983G>T	c.(1981-1983)aaG>aaT	p.K661N	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.K661N	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	661	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAGAAGCAAAGGAATGGTTAT	0.522																																					Pancreas(199;709 2232 18410 33584 35052)											0													269	255	260					12																	113446979		2203	4300	6503	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1983G>T	12.37:g.113446979G>T	ENSP00000342278:p.Lys661Asn		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	14.69	2.609459	0.46527	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.44881	0.91;0.91	4.39	-3.9	0.04181	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	1.275380	0.05854	N	0.621750	T	0.37758	0.1015	L	0.41824	1.3	0.09310	N	1	D;P	0.54772	0.968;0.897	P;P	0.55303	0.773;0.624	T	0.32981	-0.9886	10	0.23302	T	0.38	-19.1748	0.9438	0.01361	0.3855:0.2198:0.2517:0.1431	.	661;661	P29728;P29728-2	OAS2_HUMAN;.	N	661	ENSP00000342278:K661N;ENSP00000376362:K661N	ENSP00000342278:K661N	K	+	3	2	OAS2	111931362	0.000000	0.05858	0.000000	0.03702	0.348000	0.29142	-0.531000	0.06171	-0.676000	0.05238	0.655000	0.94253	AAG		0.522	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			T	113446979	G	T	113446979	3	4	175	1	0	0	0	0	1	0	0	0	10802	991	35	4	2092	4	OAS2	12	113446979	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08	56409736	113446979	20404916	34	10138											
AKAP11	11215	broad.mit.edu	37	13	42877012	42877012	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:42877012A>C	ENST00000025301.2	+	8	4305	c.4130A>C	c.(4129-4131)aAa>aCa	p.K1377T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1377					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CGATCTGTTAAATCAGGATTA	0.408																																																0													77	72	74					13																	42877012		2203	4300	6503	SO:0001583	missense	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4130A>C	13.37:g.42877012A>C	ENSP00000025301:p.Lys1377Thr		O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.173616	0.38413	.	.	ENSG00000023516	ENST00000025301	T	0.57273	0.41	6.16	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.45115	0.1326	L	0.38175	1.15	0.48571	D	0.999672	P	0.49358	0.923	B	0.42771	0.397	T	0.30995	-0.9959	10	0.33940	T	0.23	.	13.8964	0.63775	0.8734:0.1266:0.0:0.0	.	1377	Q9UKA4	AKA11_HUMAN	T	1377	ENSP00000025301:K1377T	ENSP00000025301:K1377T	K	+	2	0	AKAP11	41775012	1.000000	0.71417	0.967000	0.41034	0.987000	0.75469	7.102000	0.77005	1.114000	0.41781	0.528000	0.53228	AAA		0.408	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		C	42877012	A	C	42877012	3	2	175	1	0	0	0	0	1	0	0	0	447	14	1	5	4152	5	AKAP11	13	42877012	Missense_Mutation	SNP	A	TCGA-B0-5084-01A-01D-1462-08		42877012	72292866	35	10139											
COG3	83548	broad.mit.edu	37	13	46077403	46077403	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:46077403G>A	ENST00000349995.5	+	14	1625	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	505					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TTTGAAAGATGAACAGAAGAA	0.358																																					Ovarian(150;1048 1859 18083 21577 42700)											0													103	101	101					13																	46077403		2203	4300	6503	SO:0001583	missense	83548			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1513G>A	13.37:g.46077403G>A	ENSP00000258654:p.Glu505Lys		B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232206	0.79688	.	.	ENSG00000136152	ENST00000349995	T	0.42900	0.96	5.85	5.85	0.93711	.	0.049217	0.85682	D	0.000000	T	0.36963	0.0986	L	0.52905	1.665	0.80722	D	1	B;P	0.43477	0.404;0.808	B;B	0.33690	0.146;0.168	T	0.19811	-1.0294	10	0.17369	T	0.5	-16.1576	19.1557	0.93509	0.0:0.0:1.0:0.0	.	342;505	B4E2F3;Q96JB2	.;COG3_HUMAN	K	505	ENSP00000258654:E505K	ENSP00000258654:E505K	E	+	1	0	COG3	44975404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.683000	0.91236	2.765000	0.95021	0.637000	0.83480	GAA		0.358	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			A	46077403	G	A	46077403	3	1	175	1	0	0	0	0	1	0	0	0	3661	1291	45	2	1567	2	COG3	13	46077403	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08	3200391	46077403	69092475	36	10140											
TMCO3	55002	broad.mit.edu	37	13	114150177	114150177	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:114150177A>G	ENST00000434316.2	+	2	640	c.281A>G	c.(280-282)cAc>cGc	p.H94R	TMCO3_ENST00000375391.1_Missense_Mutation_p.H94R|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	94						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTTCAGGTGCACACGTTTGAA	0.463																																																0													59	61	60					13																	114150177		2203	4300	6503	SO:0001583	missense	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.281A>G	13.37:g.114150177A>G	ENSP00000389399:p.His94Arg		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587092	0.66105	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.31769	1.48	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	M	0.71581	2.175	0.80722	D	1	P;P	0.44006	0.73;0.824	B;B	0.38880	0.093;0.284	T	0.39143	-0.9628	10	0.72032	D	0.01	-12.5082	15.5773	0.76400	1.0:0.0:0.0:0.0	.	94;94	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	R	94	ENSP00000389399:H94R	ENSP00000364540:H94R	H	+	2	0	TMCO3	113198178	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	8.907000	0.92634	2.094000	0.63399	0.454000	0.30748	CAC		0.463	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		G	114150177	A	G	114150177	3	3	175	1	0	0	0	0	1	0	0	0	16002	159	6	3	283	3	TMCO3	13	114150177	Missense_Mutation	SNP	A	TCGA-B0-5084-01A-01D-1462-08	68072774	114150177	1019701	37	10141	81	2									
TMCO3	55002	broad.mit.edu	37	13	114150178	114150178	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:114150178C>A	ENST00000434316.2	+	2	641	c.282C>A	c.(280-282)caC>caA	p.H94Q	TMCO3_ENST00000375391.1_Missense_Mutation_p.H94Q|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	94						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTCAGGTGCACACGTTTGAAA	0.463																																																0													59	61	60					13																	114150178		2203	4300	6503	SO:0001583	missense	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.282C>A	13.37:g.114150178C>A	ENSP00000389399:p.His94Gln		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284812	0.40394	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.32023	1.47	5.46	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	M	0.71581	2.175	0.54753	D	0.999981	P;P	0.39352	0.539;0.669	B;B	0.34824	0.093;0.19	T	0.08953	-1.0697	10	0.30078	T	0.28	-12.5082	12.438	0.55610	0.0:0.8598:0.0:0.1402	.	94;94	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	Q	94	ENSP00000389399:H94Q	ENSP00000364540:H94Q	H	+	3	2	TMCO3	113198179	1.000000	0.71417	0.995000	0.50966	0.440000	0.31957	2.318000	0.43779	1.326000	0.45319	0.555000	0.69702	CAC		0.463	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		A	114150178	C	A	114150178	3	1	175	1	0	0	0	0	1	0	0	0	16002	477	17	4	284	4	TMCO3	13	114150178	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08	1	114150178	1019700	38	10142	81	2									
FAM161B	145483	broad.mit.edu	37	14	74407656	74407656	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr14:74407656G>A	ENST00000534936.1	-	5	1478	c.1373C>T	c.(1372-1374)gCc>gTc	p.A458V	FAM161B_ENST00000286544.3_Missense_Mutation_p.A521V|RP5-1021I20.5_ENST00000555916.1_RNA			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	458										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CTTCCTGGTGGCATCTGTGAT	0.592																																																0													147	130	135					14																	74407656		2203	4300	6503	SO:0001583	missense	145483			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1373C>T	14.37:g.74407656G>A	ENSP00000445326:p.Ala458Val		B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.209326	0.95069	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.27256	1.68;1.68	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000015	T	0.54287	0.1849	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.58769	-0.7578	10	0.72032	D	0.01	-15.4359	16.9235	0.86169	0.0:0.0:1.0:0.0	.	458	Q96MY7	F161B_HUMAN	V	521;458	ENSP00000286544:A521V;ENSP00000445326:A458V	ENSP00000286544:A521V	A	-	2	0	FAM161B	73477409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.059000	0.71133	2.668000	0.90789	0.655000	0.94253	GCC		0.592	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		A	74407656	G	A	74407656	3	1	175	1	0	0	0	0	1	0	0	0	5475	1203	42	2	590	2	FAM161B	14	74407656	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08		74407656	32941884	39	10143											
SPG21	51324	broad.mit.edu	37	15	65273246	65273246	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr15:65273246G>A	ENST00000204566.2	-	3	476	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	SPG21_ENST00000416889.2_Missense_Mutation_p.R61W|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000433215.2_Missense_Mutation_p.R61W|SPG21_ENST00000560564.1_5'UTR	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	61					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AAAATCTGCCGGAAAAAGACA	0.453																																																0													72	69	70					15																	65273246		2202	4299	6501	SO:0001583	missense	51324			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"maspardin"	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.181C>T	15.37:g.65273246G>A	ENSP00000204566:p.Arg61Trp		B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595893	0.96602	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T	0.68479	-0.33;-0.33	5.69	5.69	0.88448	.	0.393988	0.31660	N	0.007267	T	0.75510	0.3859	M	0.65975	2.015	0.51012	D	0.999908	D;D	0.61697	0.99;0.989	P;P	0.53185	0.631;0.72	T	0.74106	-0.3772	10	0.37606	T	0.19	-9.5053	18.8037	0.92028	0.0:0.0:1.0:0.0	.	61;61	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	W	61	ENSP00000204566:R61W;ENSP00000404111:R61W	ENSP00000204566:R61W	R	-	1	2	SPG21	63060299	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.913000	0.87471	2.682000	0.91365	0.650000	0.86243	CGG		0.453	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		A	65273246	G	A	65273246	3	1	175	1	0	0	0	0	1	0	0	0	15048	1115	39	1	773	1	SPG21	15	65273246	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08		65273246	37258146	40	10144											
SRRM2	23524	broad.mit.edu	37	16	2815941	2815941	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr16:2815941C>T	ENST00000301740.8	+	11	5961	c.5412C>T	c.(5410-5412)agC>agT	p.S1804S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1804	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GACAGCGGAGCCGGTCAAGGT	0.607																																																0													37	44	42					16																	2815941		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5412C>T	16.37:g.2815941C>T			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2815941	C	T	2815941	2	4	175	1	0	0	0	0	0	0	0	1	15174	738	26	2		2	SRRM2	16	2815941	Silent	SNP	C	TCGA-B0-5084-01A-01D-1462-08		2815941	87538812	41	10145											
CNOT1	23019	broad.mit.edu	37	16	58622799	58622799	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr16:58622799C>T	ENST00000317147.5	-	3	446	c.114G>A	c.(112-114)cgG>cgA	p.R38R	CNOT1_ENST00000441024.2_Silent_p.R38R|CNOT1_ENST00000569240.1_Silent_p.R38R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	38					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.R38R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGGACCGTGCCGATTCACAA	0.373																																																2	Substitution - coding silent(2)	kidney(2)											62	53	56					16																	58622799		2198	4299	6497	SO:0001819	synonymous_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.114G>A	16.37:g.58622799C>T			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																				0.373	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		T	58622799	C	T	58622799	2	4	175	1	0	0	0	0	0	0	0	1	3619	726	26	2		2	CNOT1	16	58622799	Silent	SNP	C	TCGA-B0-5084-01A-01D-1462-08	55806858	58622799	31731954	42	10146											
UNC45B	146862	broad.mit.edu	37	17	33477172	33477172	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:33477172C>T	ENST00000268876.5	+	4	408	c.311C>T	c.(310-312)gCc>gTc	p.A104V	UNC45B_ENST00000394570.2_Missense_Mutation_p.A104V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A104V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A104V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A104V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	104					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGCGTTGTGCCACCCTCGAG	0.587																																																0													106	87	93					17																	33477172		2203	4300	6503	SO:0001583	missense	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.311C>T	17.37:g.33477172C>T	ENSP00000268876:p.Ala104Val		Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497189	0.64186	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	4.85	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);Tetratricopeptide repeat-containing (1);	0.103301	0.64402	D	0.000003	T	0.44414	0.1292	N	0.16708	0.43	0.80722	D	1	B;B;B	0.28324	0.207;0.184;0.053	B;B;B	0.34824	0.19;0.079;0.065	T	0.30851	-0.9964	10	0.12430	T	0.62	-19.7792	17.1237	0.86709	0.0:1.0:0.0:0.0	.	104;104;104	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	104	ENSP00000378071:A104V;ENSP00000268876:A104V;ENSP00000412840:A104V;ENSP00000367710:A104V	ENSP00000268876:A104V	A	+	2	0	UNC45B	30501285	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.843000	0.69424	2.523000	0.85059	0.650000	0.86243	GCC		0.587	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		T	33477172	C	T	33477172	3	4	175	1	0	0	0	0	1	0	0	0	16994	739	26	2	321	2	UNC45B	17	33477172	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08		33477172	47718038	43	10147											
EZH1	2145	broad.mit.edu	37	17	40864465	40864465	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:40864465C>A	ENST00000428826.2	-	12	1364	c.1243G>T	c.(1243-1245)Gct>Tct	p.A415S	EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000592743.1_Missense_Mutation_p.A415S|EZH1_ENST00000585893.1_Missense_Mutation_p.A375S|EZH1_ENST00000590078.1_Missense_Mutation_p.A345S|EZH1_ENST00000435174.1_Missense_Mutation_p.A276S|EZH1_ENST00000415827.2_Missense_Mutation_p.A406S			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	415					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GCTGGACTAGCCTTCTGTTTT	0.498																																																0													130	122	124					17																	40864465		2203	4300	6503	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1243G>T	17.37:g.40864465C>A	ENSP00000404658:p.Ala415Ser		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	5.175	0.217825	0.09810	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.77877	-1.13;-1.13	5.23	3.22	0.36961	.	0.222929	0.46145	N	0.000301	T	0.49830	0.1580	N	0.08118	0	0.26658	N	0.971968	B;B;B;B;B	0.15719	0.014;0.001;0.001;0.001;0.0	B;B;B;B;B	0.18871	0.023;0.001;0.003;0.001;0.001	T	0.36578	-0.9742	10	0.06494	T	0.89	.	4.8677	0.13616	0.2631:0.5319:0.1303:0.0747	.	276;375;421;345;415	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	S	418;415;375;276	ENSP00000404658:A415S;ENSP00000404071:A276S	ENSP00000264646:A418S	A	-	1	0	EZH1	38117991	0.538000	0.26394	0.987000	0.45799	0.927000	0.56198	0.581000	0.23819	0.750000	0.32877	-1.047000	0.02352	GCT		0.498	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		A	40864465	C	A	40864465	3	1	175	1	0	0	0	0	1	0	0	0	5335	739	26	4	1040	4	EZH1	17	40864465	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08	7387293	40864465	40330745	44	10148											
NMT1	4836	broad.mit.edu	37	17	43163945	43163945	+	Missense_Mutation	SNP	G	G	C	rs563736659		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:43163945G>C	ENST00000592782.1	+	4	441	c.310G>C	c.(310-312)Gga>Cga	p.G104R	NMT1_ENST00000258960.2_Missense_Mutation_p.G104R|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	104					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AGTGGGTCAGGGACCTGCCAA	0.517																																																0													90	71	78					17																	43163945		2203	4300	6503	SO:0001583	missense	4836				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.310G>C	17.37:g.43163945G>C	ENSP00000468424:p.Gly104Arg		A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285732	0.80803	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.49139	0.79;1.01	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	M	0.75085	2.285	0.80722	D	1	B	0.29085	0.232	B	0.35413	0.202	T	0.53208	-0.8471	10	0.37606	T	0.19	-10.6942	19.6556	0.95837	0.0:0.0:1.0:0.0	.	104	P30419	NMT1_HUMAN	R	104	ENSP00000258960:G104R;ENSP00000439263:G104R	ENSP00000258960:G104R	G	+	1	0	NMT1	40519471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.544000	0.98092	2.882000	0.98803	0.655000	0.94253	GGA		0.517	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		C	43163945	G	C	43163945	3	2	175	1	0	0	0	0	1	0	0	0	10505	1233	43	4	320	4	NMT1	17	43163945	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08	2299480	43163945	38031265	45	10149											
SAFB	6294	broad.mit.edu	37	19	5641841	5641841	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:5641841G>A	ENST00000292123.5	+	4	537	c.430G>A	c.(430-432)Gtt>Att	p.V144I	SAFB_ENST00000433404.1_De_novo_Start_OutOfFrame|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000588852.1_Missense_Mutation_p.V144I|SAFB_ENST00000592224.1_Missense_Mutation_p.V144I|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000454510.1_Intron	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	144					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V144I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAATGGAAGCGTTGCAGATTG	0.483																																					Colon(88;338 1345 6184 8214 20897)											1	Substitution - Missense(1)	ovary(1)											158	155	156					19																	5641841		2203	4300	6503	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.430G>A	19.37:g.5641841G>A	ENSP00000292123:p.Val144Ile		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Translation_Start_Site	SNP	ENST00000292123.5	37	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103163	0.20632	.	.	ENSG00000160633	ENST00000292123	T	0.10288	2.89	5.7	4.67	0.58626	.	0.122641	0.36303	N	0.002678	T	0.08447	0.0210	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B	0.32365	0.367;0.013;0.367;0.236;0.367	B;B;B;B;B	0.20577	0.03;0.002;0.03;0.03;0.03	T	0.19289	-1.0310	10	0.40728	T	0.16	-17.463	13.0308	0.58840	0.0745:0.0:0.9255:0.0	.	144;144;144;144;144	B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;SAFB1_HUMAN;.	I	144	ENSP00000292123:V144I	ENSP00000292123:V144I	V	+	1	0	SAFB	5592841	0.826000	0.29277	0.076000	0.20297	0.234000	0.25298	2.253000	0.43205	1.411000	0.46957	0.557000	0.71058	GTT		0.483	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			A	5641841	G	A	5641841	3	1	175	1	0	0	0	0	1	0	0	0	13812	1145	40	1	444	1	SAFB	19	5641841	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08		5641841	53487142	46	10150											
ZNF430	80264	broad.mit.edu	37	19	21239825	21239826	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:21239825_21239826insT	ENST00000261560.5	+	5	892_893	c.711_712insT	c.(712-714)tgtfs	p.C238fs	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	238					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AATGTGAAGAATGTGGTAAAGT	0.332																																																0																																										SO:0001589	frameshift_variant	80264			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.712dupT	19.37:g.21239826_21239826dupT	ENSP00000261560:p.Cys238fs		Q86V70	Frame_Shift_Ins	INS	ENST00000261560.5	37	CCDS32978.1																																																																																				0.332	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		T	21239826	-	T	21239825	7	5	175	1	0	1	1	0	0	0	0	0	17909	98	4	0	729	0	ZNF430	19	21239825	Frame_Shift_Ins	INS	-	TCGA-B0-5084-01A-01D-1462-08	15597984	21239825	37889158	47	10151											
ZNF257	113835	broad.mit.edu	37	19	22271410	22271410	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:22271410A>T	ENST00000594947.1	+	4	1002	c.858A>T	c.(856-858)aaA>aaT	p.K286N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCCCTTCAAATATGATGAAT	0.393																																																0													45	48	47					19																	22271410		2057	4231	6288	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.858A>T	19.37:g.22271410A>T	ENSP00000470209:p.Lys286Asn		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951705	0.34471	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46639	0.1403	L	0.60455	1.87	0.24027	N	0.996122	P	0.49862	0.929	P	0.52856	0.711	T	0.31971	-0.9924	8	0.72032	D	0.01	.	5.6145	0.17423	1.0:0.0:0.0:0.0	.	286	Q9Y2Q1	ZN257_HUMAN	N	286;258	.	ENSP00000380312:K258N	K	+	3	2	ZNF257	22063250	0.000000	0.05858	0.166000	0.22797	0.149000	0.21700	-4.370000	0.00245	0.436000	0.26393	0.260000	0.18958	AAA		0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			T	22271410	A	T	22271410	3	4	175	1	0	0	0	0	1	0	0	0	17805	98	4	5	872	5	ZNF257	19	22271410	Missense_Mutation	SNP	A	TCGA-B0-5084-01A-01D-1462-08	1031585	22271410	36857573	48	10152											
TMEM160	54958	broad.mit.edu	37	19	47549310	47549310	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:47549310G>A	ENST00000253047.6	-	3	517	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_017854.1	NP_060324.1	Q9NX00	TM160_HUMAN	transmembrane protein 160	168						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		TCGTCCTCGGGCACCAGCTCC	0.766																																																0													4	4	4					19																	47549310		1938	3884	5822	SO:0001583	missense	54958			AK000519	CCDS12695.1	19q13.32	2008-02-05				ENSG00000130748			26042	protein-coding gene	gene with protein product						12477932	Standard	XM_005259027		Approved	FLJ20512	uc002pfz.3	Q9NX00		ENST00000253047.6:c.502C>T	19.37:g.47549310G>A	ENSP00000253047:p.Pro168Ser		Q9BU41	Missense_Mutation	SNP	ENST00000253047.6	37	CCDS12695.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393146	0.42410	.	.	ENSG00000130748	ENST00000253047	T	0.41758	0.99	4.0	4.0	0.46444	.	0.211231	0.28425	N	0.015389	T	0.34716	0.0907	N	0.19112	0.55	0.36086	D	0.843113	D	0.56968	0.978	P	0.53146	0.719	T	0.14980	-1.0453	10	0.07175	T	0.84	-15.0937	13.1214	0.59329	0.0:0.0:1.0:0.0	.	168	Q9NX00	TM160_HUMAN	S	168	ENSP00000253047:P168S	ENSP00000253047:P168S	P	-	1	0	TMEM160	52241150	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	6.361000	0.73070	2.075000	0.62263	0.297000	0.19635	CCC		0.766	TMEM160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466666.1	NM_017854		A	47549310	G	A	47549310	3	1	175	1	0	0	0	0	1	0	0	0	16080	1203	42	2	68	2	TMEM160	19	47549310	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08	25277900	47549310	11579673	49	10153											
ZNF460	10794	broad.mit.edu	37	19	57802196	57802196	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:57802196A>G	ENST00000360338.3	+	3	609	c.287A>G	c.(286-288)cAa>cGa	p.Q96R	ZNF460_ENST00000537645.1_Missense_Mutation_p.Q55R	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	96	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCCATGGATCAAGATGGGCCA	0.512																																																0													81	79	80					19																	57802196		2203	4300	6503	SO:0001583	missense	10794			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.287A>G	19.37:g.57802196A>G	ENSP00000353491:p.Gln96Arg		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	A	9.853	1.194187	0.22037	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.38240	1.15;1.15	2.21	-0.114	0.13564	Krueppel-associated box (1);	.	.	.	.	T	0.19805	0.0476	L	0.29908	0.895	0.09310	N	1	B	0.21225	0.053	B	0.09377	0.004	T	0.21109	-1.0255	9	0.25751	T	0.34	.	2.422	0.04450	0.3912:0.2936:0.3152:0.0	.	96	Q14592	ZN460_HUMAN	R	55;96	ENSP00000446167:Q55R;ENSP00000353491:Q96R	ENSP00000353491:Q96R	Q	+	2	0	ZNF460	62494008	0.000000	0.05858	0.003000	0.11579	0.118000	0.20060	-0.422000	0.07043	0.091000	0.17302	0.528000	0.53228	CAA		0.512	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		G	57802196	A	G	57802196	3	3	175	1	0	0	0	0	1	0	0	0	17929	130	5	3	297	3	ZNF460	19	57802196	Missense_Mutation	SNP	A	TCGA-B0-5084-01A-01D-1462-08	10252886	57802196	1326787	50	10154											
ZNF606	80095	broad.mit.edu	37	19	58490863	58490863	+	Silent	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:58490863A>C	ENST00000341164.4	-	7	1805	c.1185T>G	c.(1183-1185)acT>acG	p.T395T	ZNF606_ENST00000536132.1_Silent_p.T305T	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GTTTCTCTGCAGTGTAAGTGC	0.373																																																0													101	91	94					19																	58490863		2203	4300	6503	SO:0001819	synonymous_variant	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1185T>G	19.37:g.58490863A>C			A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	CCDS12968.1																																																																																				0.373	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		C	58490863	A	C	58490863	2	2	175	1	0	0	0	0	0	0	0	1	18037	175	7	5		5	ZNF606	19	58490863	Silent	SNP	A	TCGA-B0-5084-01A-01D-1462-08	688667	58490863	638120	51	10155											
SIGLEC1	6614	broad.mit.edu	37	20	3669219	3669219	+	Silent	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr20:3669219T>C	ENST00000344754.4	-	21	5117	c.5118A>G	c.(5116-5118)ccA>ccG	p.P1706P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H1682R	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1706					cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCCCAGGGGTGGGGCACAGG	0.577																																																0													59	47	51					20																	3669219		2201	4298	6499	SO:0001819	synonymous_variant	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.5118A>G	20.37:g.3669219T>C			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	0.101	-1.152221	0.01700	.	.	ENSG00000088827	ENST00000202578	T	0.21734	1.99	4.76	-9.51	0.00581	.	.	.	.	.	T	0.09202	0.0227	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22695	-1.0209	8	0.21540	T	0.41	.	6.8896	0.24222	0.1949:0.447:0.0:0.3582	.	1682	Q9BZZ2-3	.	R	1682	ENSP00000202578:H1682R	ENSP00000202578:H1682R	H	-	2	0	SIGLEC1	3617219	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.611000	0.00208	-2.842000	0.00334	-2.247000	0.00284	CAC		0.577	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		C	3669219	T	C	3669219	2	2	175	1	0	0	0	0	0	0	0	1	14311	1683	59	3		3	SIGLEC1	20	3669219	Silent	SNP	T	TCGA-B0-5084-01A-01D-1462-08		3669219	59356301	52	10156											
SIK1	150094	broad.mit.edu	37	21	44838289	44838289	+	Missense_Mutation	SNP	G	G	A	rs374747938		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr21:44838289G>A	ENST00000270162.6	-	12	1727	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	532					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CGGGGAGCAGGCGCCCAGCAG	0.692																																																0													18	21	20					21																	44838289		2195	4293	6488	SO:0001583	missense	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1595C>T	21.37:g.44838289G>A	ENSP00000270162:p.Ala532Val		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	G	7.709	0.694754	0.15039	.	.	ENSG00000142178	ENST00000270162	T	0.72282	-0.64	4.79	3.81	0.43845	.	0.630711	0.16972	N	0.192079	T	0.51449	0.1675	N	0.22421	0.69	0.09310	N	0.999999	B	0.16396	0.017	B	0.09377	0.004	T	0.26189	-1.0110	10	0.30854	T	0.27	.	6.3465	0.21353	0.0:0.1623:0.5091:0.3286	.	532	P57059	SIK1_HUMAN	V	532	ENSP00000270162:A532V	ENSP00000270162:A532V	A	-	2	0	SIK1	43662717	1.000000	0.71417	0.632000	0.29296	0.022000	0.10575	2.539000	0.45718	2.205000	0.71048	0.655000	0.94253	GCC		0.692	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		A	44838289	G	A	44838289	3	1	175	1	0	0	0	0	1	0	0	0	14323	1203	42	2	768	2	SIK1	21	44838289	Missense_Mutation	SNP	G	TCGA-B0-5084-01A-01D-1462-08		44838289	3291606	53	10157											
NF2	4771	broad.mit.edu	37	22	30035203	30035203	+	Splice_Site	SNP	T	T	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr22:30035203T>G	ENST00000338641.4	+	3	804		c.e3+2		NF2_ENST00000334961.7_Intron|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000347330.5_Intron|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000361452.4_Intron|NF2_ENST00000413209.2_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000353887.4_Intron|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000403999.3_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(4)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTTACAGGTACATCAGTCA	0.453			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	4	Unknown(4)	stomach(1)|large_intestine(1)|lung(1)|soft_tissue(1)											115	103	107					22																	30035203		2203	4300	6503	SO:0001630	splice_region_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.363+2T>G	22.37:g.30035203T>G			O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387041	0.82902	.	.	ENSG00000186575	ENST00000413209;ENST00000338641;ENST00000403435;ENST00000397822;ENST00000403999;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2996	0.73936	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28365203	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.774000	0.85478	2.248000	0.74166	0.460000	0.39030	.		0.453	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	G	30035203	T	G	30035203	5	3	175	1	0	0	0	0	0	0	1	0	10359	1652	57	5	375	5	NF2	22	30035203	Splice_Site	SNP	T	TCGA-B0-5084-01A-01D-1462-08		30035203	21269363	54	10158											
TAB1	10454	broad.mit.edu	37	22	39811123	39811123	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr22:39811123C>T	ENST00000216160.6	+	2	208	c.146C>T	c.(145-147)cCa>cTa	p.P49L	TAB1_ENST00000331454.3_Missense_Mutation_p.P49L	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	49					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGCCACCCGCCAGAGGACAGC	0.592																																																0													56	43	48					22																	39811123		2203	4300	6503	SO:0001583	missense	10454			U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"TAK1-binding protein 1", "mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	602615	"mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.146C>T	22.37:g.39811123C>T	ENSP00000216160:p.Pro49Leu		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	C	6.143	0.394634	0.11638	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.08546	3.08;3.08	4.85	1.47	0.22746	Protein phosphatase 2C-like (3);	0.563733	0.18500	N	0.139386	T	0.01940	0.0061	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45687	-0.9244	10	0.11485	T	0.65	.	3.2664	0.06867	0.0:0.3783:0.2099:0.4118	.	49;49;193	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	L	49	ENSP00000216160:P49L;ENSP00000333049:P49L	ENSP00000216160:P49L	P	+	2	0	TAB1	38141069	0.006000	0.16342	0.736000	0.30914	0.998000	0.95712	0.624000	0.24462	0.642000	0.30620	0.655000	0.94253	CCA		0.592	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		T	39811123	C	T	39811123	3	4	175	1	0	0	0	0	1	0	0	0	15500	594	21	2	152	2	TAB1	22	39811123	Missense_Mutation	SNP	C	TCGA-B0-5084-01A-01D-1462-08	9775920	39811123	11493443	55	10159											
XK	7504	broad.mit.edu	37	X	37553617	37553617	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chrX:37553617A>C	ENST00000378616.3	+	2	527	c.324A>C	c.(322-324)caA>caC	p.Q108H	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	108					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGAAGAGGCAAATGCCAAAAA	0.478																																																0													83	64	71					X																	37553617		2202	4300	6502	SO:0001583	missense	7504			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"Blood group antigens"	12811	protein-coding gene	gene with protein product	"Kx antigen", "McLeod syndrome"	314850	"Kell blood group precursor (McLeod phenotype)", "XK, Kell blood group complex subunit (McLeod syndrome)", "neuroacanthocytosis", "neurocanthocytosis"	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.324A>C	X.37:g.37553617A>C	ENSP00000367879:p.Gln108His		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604235	0.66445	.	.	ENSG00000047597	ENST00000378616	T	0.65364	-0.15	6.04	2.07	0.26955	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.72479	2.2	0.52501	D	0.999958	D	0.71674	0.998	D	0.71184	0.972	T	0.69584	-0.5106	10	0.41790	T	0.15	-7.1224	9.8607	0.41112	0.3097:0.0:0.6903:0.0	.	108	P51811	XK_HUMAN	H	108	ENSP00000367879:Q108H	ENSP00000367879:Q108H	Q	+	3	2	XK	37438556	1.000000	0.71417	0.986000	0.45419	0.982000	0.71751	3.149000	0.50655	0.202000	0.20498	-0.502000	0.04539	CAA		0.478	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		C	37553617	A	C	37553617	3	2	175	1	0	0	0	0	1	0	0	0	17436	11	1	5	330	5	XK	23	37553617	Missense_Mutation	SNP	A	TCGA-B0-5084-01A-01D-1462-08		37553617	117716943	56	10160											
GAGE2A	729447	broad.mit.edu	37	X	49355892	49355893	+	Frame_Shift_Del	DEL	AC	AC	-	rs59641550		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chrX:49355892_49355893delAC	ENST00000362097.1	+	3	257_258	c.174_175delAC	c.(172-177)ggacagfs	p.Q59fs		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					CTCAGGAGGGACAGGATGAGGG	0.559																																																8	Substitution - Missense(8)	endometrium(8)																																								SO:0001589	frameshift_variant	729447			U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"cancer/testis antigen family 4, member 2"	300720	"G antigen 2"	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.174_175delAC	X.37:g.49355892_49355893delAC	ENSP00000355421:p.Gln59fs			Frame_Shift_Del	DEL	ENST00000362097.1	37	CCDS48114.1																																																																																				0.559	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			-	49355893	AC	-	49355892	7	5	175	1	0	1	0	1	0	0	0	0	6192	262	10	0	1281	0	GAGE2A	23	49355892	Frame_Shift_Del	DEL	AC	TCGA-B0-5084-01A-01D-1462-08	11802275	49355892	105914668	57	10161											
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10421772	10421772	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr1:10421772C>T	ENST00000377086.1	+	40	4395	c.4193C>T	c.(4192-4194)gCt>gTt	p.A1398V	KIF1B_ENST00000263934.6_Missense_Mutation_p.A1352V|KIF1B_ENST00000377081.1_Missense_Mutation_p.A1398V|KIF1B_ENST00000465635.1_3'UTR			O60333	KIF1B_HUMAN	kinesin family member 1B	1398					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.A1352V(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ATCCAGCCGGCTGTCATCACC	0.522																																																1	Substitution - Missense(1)	kidney(1)											148	131	137					1																	10421772		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4193C>T	1.37:g.10421772C>T	ENSP00000366290:p.Ala1398Val		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	C	21.7	4.186397	0.78789	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72394	-0.56;-0.65;-0.65	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	N	0.12569	0.235	0.80722	D	1	P;B;D;P;P;D	0.67145	0.529;0.377;0.972;0.949;0.767;0.996	P;B;P;P;B;D	0.73380	0.541;0.24;0.755;0.803;0.306;0.98	T	0.69022	-0.5255	10	0.20046	T	0.44	.	19.7433	0.96241	0.0:1.0:0.0:0.0	.	1384;1358;1398;1372;1398;1352	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	1398;1352;1398;1398	ENSP00000263934:A1352V;ENSP00000366290:A1398V;ENSP00000366284:A1398V	ENSP00000263934:A1352V	A	+	2	0	KIF1B	10344359	1.000000	0.71417	0.683000	0.30040	0.994000	0.84299	7.776000	0.85560	2.733000	0.93635	0.655000	0.94253	GCT		0.522	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10421772	C	T	10421772	3	4	176	1	0	0	0	0	1	0	0	0	8286	797	28	2	5690	2	KIF1B	1	10421772	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08		10421772	238828849	1	10162											
RNF186	54546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20141319	20141319	+	Silent	SNP	G	G	C	rs138663359	byFrequency	TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr1:20141319G>C	ENST00000375121.2	-	1	452	c.276C>G	c.(274-276)ccC>ccG	p.P92P	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	92						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.P92P(1)		kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGCCCCCGGGGACGGCGG	0.667																																																1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	54546				CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"RING-type (C3HC4) zinc fingers"	25978	protein-coding gene	gene with protein product	"hypothetical protein FLJ20225"					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.276C>G	1.37:g.20141319G>C			Q53GE0	Silent	SNP	ENST00000375121.2	37	CCDS199.1																																																																																				0.667	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		C	20141319	G	C	20141319	2	2	176	1	0	0	0	0	0	0	0	1	13475	1103	39	4		4	RNF186	1	20141319	Silent	SNP	G	TCGA-B0-5085-01A-01D-1462-08	9719547	20141319	229109302	2	10163											
PTPRU	10076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29611375	29611375	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr1:29611375G>T	ENST00000345512.3	+	14	2441	c.2312G>T	c.(2311-2313)cGc>cTc	p.R771L	PTPRU_ENST00000428026.2_Missense_Mutation_p.R771L|PTPRU_ENST00000356870.3_Missense_Mutation_p.R771L|PTPRU_ENST00000373779.3_Missense_Mutation_p.R771L|PTPRU_ENST00000460170.2_Missense_Mutation_p.R771L|PTPRU_ENST00000323874.8_Missense_Mutation_p.R771L|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	771	Mediates interaction with CTNNB1. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R771L(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTCATCATCCGCAAAGGGTGA	0.597																																																3	Substitution - Missense(3)	kidney(3)											83	69	74					1																	29611375		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2312G>T	1.37:g.29611375G>T	ENSP00000334941:p.Arg771Leu		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293352	0.80914	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.34072	1.41;1.44;1.44;1.44;1.38;1.44	5.21	5.21	0.72293	.	0.067660	0.64402	D	0.000018	T	0.45816	0.1361	L	0.58101	1.795	0.47862	D	0.999532	P;D;P;P;P	0.53151	0.913;0.958;0.913;0.93;0.858	P;P;P;B;B	0.50570	0.562;0.644;0.562;0.441;0.338	T	0.35943	-0.9768	9	.	.	.	.	15.9183	0.79539	0.0:0.0:1.0:0.0	.	771;771;771;771;771	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	L	771	ENSP00000334941:R771L;ENSP00000362884:R771L;ENSP00000349333:R771L;ENSP00000314987:R771L;ENSP00000392332:R771L;ENSP00000432906:R771L	.	R	+	2	0	PTPRU	29483962	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.792000	0.69052	2.422000	0.82143	0.542000	0.68232	CGC		0.597	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			T	29611375	G	T	29611375	3	4	176	1	0	0	0	0	1	0	0	0	12819	1087	38	4	2366	4	PTPRU	1	29611375	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	9470056	29611375	219639246	3	10164											
FNDC4	64838	broad.mit.edu;hgsc.bcm.edu	37	2	27716993	27716993	+	Silent	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr2:27716993A>G	ENST00000264703.3	-	4	649	c.258T>C	c.(256-258)aaT>aaC	p.N86N	GCKR_ENST00000264717.2_5'Flank|GCKR_ENST00000424318.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	86	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N86N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GCCCGGGGCCATTCTGCCGCT	0.632																																																1	Substitution - coding silent(1)	kidney(1)											19	22	21					2																	27716993		2203	4299	6502	SO:0001819	synonymous_variant	64838			AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"Fibronectin type III domain containing"	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.258T>C	2.37:g.27716993A>G			D6W560	Silent	SNP	ENST00000264703.3	37	CCDS1756.1																																																																																				0.632	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823		G	27716993	A	G	27716993	2	3	176	1	0	0	0	0	0	0	0	1	5973	214	8	3		3	FNDC4	2	27716993	Silent	SNP	A	TCGA-B0-5085-01A-01D-1462-08		27716993	215482380	4	10165											
MCEE	84693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	71351338	71351338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr2:71351338C>A	ENST00000244217.5	-	2	393	c.376G>T	c.(376-378)Gag>Tag	p.E126*	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	126					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)	p.E126*(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TAAAATACCTCGATGCAGATG	0.348																																																1	Substitution - Nonsense(1)	kidney(1)											36	36	36					2																	71351338		2203	4300	6503	SO:0001587	stop_gained	84693			AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"glyoxalase domain containing 2"	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.376G>T	2.37:g.71351338C>A	ENSP00000244217:p.Glu126*		Q53TP1|Q8WW63	Nonsense_Mutation	SNP	ENST00000244217.5	37	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	37	6.464947	0.97590	.	.	ENSG00000124370	ENST00000244217;ENST00000494660;ENST00000486135	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-11.1625	16.6693	0.85261	0.0:1.0:0.0:0.0	.	.	.	.	X	126;31;31	.	ENSP00000244217:E126X	E	-	1	0	MCEE	71204846	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.090000	0.76916	2.610000	0.88304	0.557000	0.71058	GAG		0.348	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601		A	71351338	C	A	71351338	4	1	176	1	0	0	0	0	0	1	0	0	9379	893	31	4	162	4	MCEE	2	71351338	Nonsense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	43634345	71351338	171848035	5	10166											
CDCA7	83879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	174223477	174223477	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr2:174223477T>A	ENST00000347703.3	+	2	203	c.59T>A	c.(58-60)tTc>tAc	p.F20Y	CDCA7_ENST00000392567.2_Missense_Mutation_p.F20Y|CDCA7_ENST00000410101.3_Missense_Mutation_p.F20Y|CDCA7_ENST00000306721.3_Missense_Mutation_p.F20Y|CDCA7_ENST00000410019.3_Intron|AC092573.2_ENST00000437243.1_RNA	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	20					apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F20Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TTAAAGAAATTCAGATATGTG	0.368																																																1	Substitution - Missense(1)	kidney(1)											80	85	83					2																	174223477		2203	4300	6503	SO:0001583	missense	83879			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.59T>A	2.37:g.174223477T>A	ENSP00000272789:p.Phe20Tyr		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708434	0.30322	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101	T;T;T;T	0.54479	0.7;0.57;0.71;0.69	5.77	5.77	0.91146	.	0.149132	0.64402	D	0.000009	T	0.37892	0.1020	N	0.11560	0.145	0.21861	N	0.999501	B;B;P	0.43477	0.012;0.008;0.808	B;B;B	0.40375	0.007;0.008;0.327	T	0.42224	-0.9464	10	0.72032	D	0.01	-12.279	16.099	0.81152	0.0:0.0:0.0:1.0	.	20;20;20	B4DV66;Q9BWT1;Q9BWT1-2	.;CDCA7_HUMAN;.	Y	20	ENSP00000272789:F20Y;ENSP00000376348:F20Y;ENSP00000306968:F20Y;ENSP00000386656:F20Y	ENSP00000306968:F20Y	F	+	2	0	CDCA7	173931723	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.155000	0.58131	2.203000	0.70933	0.533000	0.62120	TTC		0.368	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		A	174223477	T	A	174223477	3	1	176	1	0	0	0	0	1	0	0	0	3092	1783	62	5	65	5	CDCA7	2	174223477	Missense_Mutation	SNP	T	TCGA-B0-5085-01A-01D-1462-08	102872139	174223477	68975896	6	10167											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179435668	179435668	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr2:179435668G>C	ENST00000591111.1	-	276	70492	c.70268C>G	c.(70267-70269)aCt>aGt	p.T23423S	TTN_ENST00000589042.1_Missense_Mutation_p.T25064S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22496S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T16191S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T16124S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15999S|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23423	Fibronectin type-III 70. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T16191S(1)|p.T22494S(1)|p.T15999S(1)|p.T16124S(1)|p.T22496S(1)		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)			TTCAAAATGAGTGTCAATAAT	0.423																																																5	Substitution - Missense(5)	kidney(5)											151	147	149					2																	179435668		1849	4104	5953	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70268C>G	2.37:g.179435668G>C	ENSP00000465570:p.Thr23423Ser		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.71	1.720240	0.30503	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.52	4.63	0.57726	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70254	0.3203	M	0.84511	2.7	0.49687	D	0.999815	P;P;P;P	0.47484	0.896;0.896;0.896;0.822	P;P;P;P	0.48368	0.575;0.575;0.575;0.478	T	0.78041	-0.2359	9	0.87932	D	0	.	16.8893	0.86083	0.0:0.1281:0.8719:0.0	.	15999;16124;16191;23423	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	22496;15999;16191;16124;15997	ENSP00000343764:T22496S;ENSP00000434586:T15999S;ENSP00000340554:T16191S;ENSP00000352154:T16124S	ENSP00000340554:T16191S	T	-	2	0	TTN	179143914	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.882000	0.87258	1.433000	0.47394	0.650000	0.86243	ACT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179435668	G	C	179435668	3	2	176	1	0	0	0	0	1	0	0	0	16740	1029	36	4	32936	4	TTN	2	179435668	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	5212191	179435668	63763705	7	10168											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10183745	10183746	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	-	-	-	CC	-	-	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:10183745_10183746insCC	ENST00000256474.2	+	1	1054_1055	c.214_215insCC	c.(214-216)tccfs	p.S72fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.S72fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	72			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E70fs*85(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.Q73fs*86(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.P71fs*56(1)|p.S72P(1)|p.E70_S72>A(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCGCGAGCCCTCCCAGGTCATC	0.723		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Deletion - Frameshift(6)|Complex - deletion inframe(2)|Substitution - Missense(1)|Deletion - In frame(1)	kidney(9)|soft_tissue(1)	GRCh37	CD962175|CM071138	VHL	D|M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.215_216dupCC	3.37:g.10183746_10183747dupCC	ENSP00000256474:p.Ser72fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.723	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		CC	10183746	-	CC	10183745	7	5	176	1	0	1	1	0	0	0	0	0	17167	1551	54	0	216	0	VHL	3	10183745	Frame_Shift_Ins	INS	-	TCGA-B0-5085-01A-01D-1462-08		10183745	187838685	8	10169											
LAMB2	3913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49169156	49169156	+	Splice_Site	SNP	T	T	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:49169156T>A	ENST00000418109.1	-	6	624	c.460A>T	c.(460-462)Aca>Tca	p.T154S	LAMB2_ENST00000305544.4_Splice_Site_p.T154S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	154	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.T154S(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGCGAAATGTCTGGGTAGGG	0.587																																																1	Substitution - Missense(1)	kidney(1)											42	45	44					3																	49169156		2203	4300	6503	SO:0001630	splice_region_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.460-1A>T	3.37:g.49169156T>A			Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264026	0.80358	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.77358	-1.09;-1.09;-1.09	4.85	4.85	0.62838	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	N	0.17474	0.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71922	-0.4446	10	0.11794	T	0.64	.	14.2637	0.66102	0.0:0.0:0.0:1.0	.	154	P55268	LAMB2_HUMAN	S	154;154;5	ENSP00000388325:T154S;ENSP00000307156:T154S;ENSP00000444751:T5S	ENSP00000307156:T154S	T	-	1	0	LAMB2	49144160	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.064000	0.71169	2.047000	0.60756	0.533000	0.62120	ACA		0.587	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	Missense_Mutation	A	49169156	T	A	49169156	5	1	176	1	0	0	0	0	0	0	1	0	8613	1681	58	5	5048	5	LAMB2	3	49169156	Splice_Site	SNP	T	TCGA-B0-5085-01A-01D-1462-08	38985411	49169156	148853274	9	10170											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643828	52643828	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:52643828T>A	ENST00000296302.7	-	16	2069	c.2068A>T	c.(2068-2070)Aga>Tga	p.R690*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R690*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R690*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R658*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R690*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R705*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R705*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R690*			Q86U86	PB1_HUMAN	polybromo 1	690	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R690fs*9(2)|p.R690*(2)|p.R658*(1)|p.R658fs*9(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AACTCAGATCTAGAGGGAAGC	0.428			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(3)|Deletion - Frameshift(3)	kidney(6)											113	121	118					3																	52643828		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2068A>T	3.37:g.52643828T>A	ENSP00000296302:p.Arg690*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	39	7.716139	0.98450	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.17	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5297	13.9288	0.63981	0.0:0.0:0.4094:0.5906	.	.	.	.	X	658;690;690;690;690;690;705;705;690;649	.	ENSP00000296302:R690X	R	-	1	2	PBRM1	52618868	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	4.938000	0.63519	1.118000	0.41863	0.533000	0.62120	AGA		0.428	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52643828	T	A	52643828	4	1	176	1	0	0	0	0	0	1	0	0	11493	1530	53	5	2892	5	PBRM1	3	52643828	Nonsense_Mutation	SNP	T	TCGA-B0-5085-01A-01D-1462-08	3474672	52643828	145378602	10	10171											
ACTR8	93973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53908276	53908276	+	Silent	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:53908276G>A	ENST00000335754.3	-	8	1127	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	ACTR8_ENST00000482349.1_Silent_p.L232L|ACTR8_ENST00000231909.7_Intron	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	343					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L343L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGGTGTTGCAGAAGAAGACAA	0.358																																																1	Substitution - coding silent(1)	kidney(1)											65	65	65					3																	53908276		2203	4300	6503	SO:0001819	synonymous_variant	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1027C>T	3.37:g.53908276G>A			B3KSW7|Q8N566|Q9H663	Silent	SNP	ENST00000335754.3	37	CCDS2875.1																																																																																				0.358	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		A	53908276	G	A	53908276	2	1	176	1	0	0	0	0	0	0	0	1	217	933	33	2		2	ACTR8	3	53908276	Silent	SNP	G	TCGA-B0-5085-01A-01D-1462-08	1264448	53908276	144114154	11	10172	82	2									
ACTR8	93973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53908279	53908279	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:53908279G>A	ENST00000335754.3	-	8	1124	c.1024C>T	c.(1024-1026)Ctt>Ttt	p.L342F	ACTR8_ENST00000482349.1_Missense_Mutation_p.L231F|ACTR8_ENST00000231909.7_Intron	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	342					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L342F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGTTGCAGAAGAAGACAATCC	0.358																																																1	Substitution - Missense(1)	kidney(1)											67	67	67					3																	53908279		2203	4300	6503	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1024C>T	3.37:g.53908279G>A	ENSP00000336842:p.Leu342Phe		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458734	0.84317	.	.	ENSG00000113812	ENST00000335754;ENST00000482349	D;D	0.94966	-3.57;-3.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	M	0.85777	2.775	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.97871	1.0286	10	0.72032	D	0.01	4.0276	17.9236	0.88975	0.0:0.0:1.0:0.0	.	342	Q9H981	ARP8_HUMAN	F	342;231	ENSP00000336842:L342F;ENSP00000419429:L231F	ENSP00000336842:L342F	L	-	1	0	ACTR8	53883319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.313000	0.65798	2.655000	0.90218	0.637000	0.83480	CTT		0.358	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		A	53908279	G	A	53908279	3	1	176	1	0	0	0	0	1	0	0	0	217	942	33	2	874	2	ACTR8	3	53908279	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	3	53908279	144114151	12	10173	82	2									
RAB7A	7879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128516883	128516883	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:128516883A>T	ENST00000265062.3	+	3	397	c.151A>T	c.(151-153)Atg>Ttg	p.M51L	RAB7A_ENST00000485280.1_Missense_Mutation_p.M51L|RAB7A_ENST00000482525.1_Missense_Mutation_p.M51L	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	51					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.M51L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		CAAGGAGGTGATGGTGGATGA	0.443																																																1	Substitution - Missense(1)	kidney(1)											166	152	157					3																	128516883		2203	4300	6503	SO:0001583	missense	7879			X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"RAB, member RAS oncogene"	9788	protein-coding gene	gene with protein product		602298	"RAB7, member RAS oncogene family"	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.151A>T	3.37:g.128516883A>T	ENSP00000265062:p.Met51Leu		A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	A	8.391	0.839664	0.16891	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000464496;ENST00000490093;ENST00000483906;ENST00000485280	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.0	5.84	4.68	0.58851	Small GTP-binding protein domain (1);	.	.	.	.	T	0.59662	0.2210	N	0.11131	0.1	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.51911	-0.8645	9	0.27082	T	0.32	.	11.7988	0.52114	0.9315:0.0:0.0685:0.0	.	51;51	C9J8S3;P51149	.;RAB7A_HUMAN	L	51	ENSP00000265062:M51L;ENSP00000417668:M51L;ENSP00000417978:M51L;ENSP00000418955:M51L;ENSP00000417155:M51L;ENSP00000418283:M51L	ENSP00000265062:M51L	M	+	1	0	RAB7A	129999573	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.523000	0.90576	1.044000	0.40200	0.533000	0.62120	ATG		0.443	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1			T	128516883	A	T	128516883	3	4	176	1	0	0	0	0	1	0	0	0	12960	333	12	5	157	5	RAB7A	3	128516883	Missense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08	74608604	128516883	69505547	13	10174											
ACPL2	92370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141011820	141011820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:141011820G>T	ENST00000286353.4	+	6	1353	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*	ACPL2_ENST00000393010.2_Nonsense_Mutation_p.E406*|ACPL2_ENST00000502783.1_Nonsense_Mutation_p.E368*|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Nonsense_Mutation_p.E389*|ACPL2_ENST00000508812.1_Nonsense_Mutation_p.E397*|ACPL2_ENST00000393007.1_Nonsense_Mutation_p.E390*	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		406						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)	p.E406*(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GTTGATCTTTGAGCTTTGGCA	0.507																																																1	Substitution - Nonsense(1)	kidney(1)											152	140	144					3																	141011820		2203	4300	6503	SO:0001587	stop_gained	92370																														ENST00000286353.4:c.1216G>T	3.37:g.141011820G>T	ENSP00000286353:p.Glu406*		D3DNF5|Q49AJ2|W0TR04	Nonsense_Mutation	SNP	ENST00000286353.4	37	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	G	38	6.998215	0.97990	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3907	0.87430	0.0:0.0:1.0:0.0	.	.	.	.	X	406;368;406;389;397;390	.	.	E	+	1	0	ACPL2	142494510	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.480000	0.97931	2.691000	0.91804	0.655000	0.94253	GAG		0.507	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			T	141011820	G	T	141011820	4	4	176	1	0	0	0	0	0	1	0	0	166	1291	45	4	1234	4	ACPL2	3	141011820	Nonsense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	12494937	141011820	57010610	14	10175											
TIPARP	25976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	156421359	156421359	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:156421359T>A	ENST00000461166.1	+	5	1982	c.1394T>A	c.(1393-1395)gTc>gAc	p.V465D	TIPARP_ENST00000542783.1_Missense_Mutation_p.V465D|TIPARP_ENST00000295924.7_Missense_Mutation_p.V465D|TIPARP_ENST00000486483.1_Missense_Mutation_p.V465D	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	465	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.V465D(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCATCCAAGTCCCTGTTTCT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)											1	Substitution - Missense(1)	kidney(1)											98	100	99					3																	156421359		2203	4300	6503	SO:0001583	missense	25976			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1394T>A	3.37:g.156421359T>A	ENSP00000420612:p.Val465Asp		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.737448|4.737448	0.89482|0.89482	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.|T;T;T;T;T;T	.|0.15372	.|2.43;2.43;2.43;2.43;2.43;2.43	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Poly(ADP-ribose) polymerase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45836|0.45836	0.1362|0.1362	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.77557	.|0.99	T|T	0.52049|0.52049	-0.8627|-0.8627	5|10	.|0.87932	.|D	.|0	.|.	14.9953|14.9953	0.71428|0.71428	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|465	.|Q7Z3E1	.|PARPT_HUMAN	R|D	167|465	.|ENSP00000418757:V465D;ENSP00000295924:V465D;ENSP00000420612:V465D;ENSP00000419982:V465D;ENSP00000418829:V465D;ENSP00000438345:V465D	.|ENSP00000295924:V465D	S|V	+|+	3|2	2|0	TIPARP|TIPARP	157904053|157904053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.040000|8.040000	0.89188|0.89188	2.018000|2.018000	0.59344|0.59344	0.528000|0.528000	0.53228|0.53228	AGT|GTC		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		A	156421359	T	A	156421359	3	1	176	1	0	0	0	0	1	0	0	0	15929	1667	58	5	1408	5	TIPARP	3	156421359	Missense_Mutation	SNP	T	TCGA-B0-5085-01A-01D-1462-08	15409539	156421359	41601071	15	10176											
NMD3	51068	hgsc.bcm.edu;ucsc.edu	37	3	160945064	160945064	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:160945064delA	ENST00000460469.1	+	3	664	c.209delA	c.(208-210)cagfs	p.Q70fs	NMD3_ENST00000351193.2_Frame_Shift_Del_p.Q70fs|NMD3_ENST00000472947.1_Frame_Shift_Del_p.Q70fs|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	70					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ACTTGGATACAGTGTGCTTTA	0.368																																																0													144	140	142					3																	160945064		2203	4300	6503	SO:0001589	frameshift_variant	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.209delA	3.37:g.160945064delA	ENSP00000419004:p.Gln70fs		D3DNM7|Q9Y2Z6	Frame_Shift_Del	DEL	ENST00000460469.1	37	CCDS3194.1																																																																																				0.368	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		-	160945064	A	-	160945064	7	5	176	1	0	1	0	1	0	0	0	0	10490	188	7	0	219	0	NMD3	3	160945064	Frame_Shift_Del	DEL	A	TCGA-B0-5085-01A-01D-1462-08	4523705	160945064	37077366	16	10177											
IL6ST	3572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	55259325	55259325	+	Missense_Mutation	SNP	T	T	C	rs199518876		TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:55259325T>C	ENST00000381298.2	-	7	980	c.668A>G	c.(667-669)aAt>aGt	p.N223S	IL6ST_ENST00000381293.2_Missense_Mutation_p.N57S|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000336909.5_Missense_Mutation_p.N223S|IL6ST_ENST00000381294.3_Missense_Mutation_p.N223S|IL6ST_ENST00000502326.3_Missense_Mutation_p.N223S|IL6ST_ENST00000381287.4_Missense_Mutation_p.N223S|IL6ST_ENST00000536319.1_Missense_Mutation_p.N223S|IL6ST_ENST00000522633.2_Missense_Mutation_p.N223S|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	223					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.N223S(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGTGGCGGATTGGGCTTCAC	0.294			O		hepatocellular ca																																		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	1	Substitution - Missense(1)	kidney(1)											83	85	85					5																	55259325		2203	4300	6503	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.668A>G	5.37:g.55259325T>C	ENSP00000370698:p.Asn223Ser		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	2.871	-0.234045	0.05983	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	T;T;T;T;T;T;T	0.35048	1.55;1.55;1.33;1.52;1.52;2.06;1.52	5.91	-7.89	0.01174	Fibronectin, type III (3);Immunoglobulin-like fold (1);	2.126650	0.02096	N	0.053559	T	0.13243	0.0321	N	0.12746	0.255	0.09310	N	1	B;B;B;B	0.25312	0.123;0.0;0.001;0.0	B;B;B;B	0.15484	0.013;0.001;0.002;0.001	T	0.16129	-1.0413	10	0.08837	T	0.75	.	2.1245	0.03735	0.1124:0.2854:0.2293:0.373	.	57;223;223;223	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	S	223;223;223;223;223;57;223;223	ENSP00000370698:N223S;ENSP00000338799:N223S;ENSP00000370694:N223S;ENSP00000370687:N223S;ENSP00000444456:N223S;ENSP00000370693:N57S;ENSP00000435399:N223S	ENSP00000338799:N223S	N	-	2	0	IL6ST	55295082	0.001000	0.12720	0.605000	0.28930	0.909000	0.53808	-0.663000	0.05299	-0.958000	0.03622	0.533000	0.62120	AAT		0.294	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		C	55259325	T	C	55259325	3	2	176	1	0	0	0	0	1	0	0	0	7705	1493	52	3	2132	3	IL6ST	5	55259325	Missense_Mutation	SNP	T	TCGA-B0-5085-01A-01D-1462-08		55259325	125655935	17	10178											
MAST4	375449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66448561	66448561	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:66448561C>G	ENST00000403625.2	+	25	3687	c.3392C>G	c.(3391-3393)tCc>tGc	p.S1131C	MAST4_ENST00000405643.1_Missense_Mutation_p.S952C|MAST4_ENST00000261569.7_Missense_Mutation_p.S937C|MAST4_ENST00000403666.1_Missense_Mutation_p.S942C|MAST4_ENST00000404260.3_Missense_Mutation_p.S1134C	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1134	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1134C(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCCGAGATTCCTCAGCAGCT	0.542																																																1	Substitution - Missense(1)	kidney(1)											111	112	112					5																	66448561		1948	4158	6106	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3392C>G	5.37:g.66448561C>G	ENSP00000385727:p.Ser1131Cys		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.317853|4.317853	0.81469|0.81469	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	.|T;T;T;T;T	.|0.67865	.|-0.26;-0.26;-0.29;-0.28;-0.26	6.17|6.17	6.17|6.17	0.99709|0.99709	.|PDZ/DHR/GLGF (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80380|0.80380	0.4612|0.4612	L|L	0.59436|0.59436	1.845|1.845	0.40969|0.40969	D|D	0.984683|0.984683	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.74023	.|0.969;0.982	T|T	0.76274|0.76274	-0.3019|-0.3019	5|10	.|0.37606	.|T	.|0.19	-20.8234|-20.8234	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1134;942	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|C	187|1134;1131;942;952;952;937;870	.|ENSP00000385048:S1134C;ENSP00000385727:S1131C;ENSP00000384313:S942C;ENSP00000384099:S952C;ENSP00000261569:S937C	.|ENSP00000261569:S937C	F|S	+|+	3|2	2|0	MAST4|MAST4	66484317|66484317	0.995000|0.995000	0.38212|0.38212	0.950000|0.950000	0.38849|0.38849	0.981000|0.981000	0.71138|0.71138	3.252000|3.252000	0.51461|0.51461	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TTC|TCC		0.542	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			G	66448561	C	G	66448561	3	3	176	1	0	0	0	0	1	0	0	0	9329	855	30	4	3620	4	MAST4	5	66448561	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	11189236	66448561	114466699	18	10179											
CD180	4064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66479404	66479404	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:66479404C>T	ENST00000256447.4	-	3	1424	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	423					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E423K(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TCGAGGAGTTCTAGCTGAGGA	0.453																																																1	Substitution - Missense(1)	kidney(1)											169	174	172					5																	66479404		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1267G>A	5.37:g.66479404C>T	ENSP00000256447:p.Glu423Lys		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370330	0.24771	.	.	ENSG00000134061	ENST00000256447	T	0.55052	0.54	4.81	1.89	0.25635	.	0.076966	0.50627	D	0.000116	T	0.41166	0.1147	L	0.56769	1.78	0.09310	N	0.999997	B	0.27351	0.176	B	0.18871	0.023	T	0.25222	-1.0138	10	0.13853	T	0.58	.	9.5421	0.39257	0.0:0.4284:0.491:0.0806	.	423	Q99467	CD180_HUMAN	K	423	ENSP00000256447:E423K	ENSP00000256447:E423K	E	-	1	0	CD180	66515160	0.036000	0.19791	0.001000	0.08648	0.734000	0.41952	0.539000	0.23175	0.161000	0.19458	0.563000	0.77884	GAA		0.453	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		T	66479404	C	T	66479404	3	4	176	1	0	0	0	0	1	0	0	0	2974	922	32	2	722	2	CD180	5	66479404	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	30843	66479404	114435856	19	10180											
PCDHB7	56129	broad.mit.edu;hgsc.bcm.edu	37	5	140553926	140553926	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:140553926G>A	ENST00000231137.3	+	1	1684	c.1510G>A	c.(1510-1512)Gtc>Atc	p.V504I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	504	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)	p.V504I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCTCCCTGGTCTCCATCAA	0.682																																																1	Substitution - Missense(1)	kidney(1)											86	90	89					5																	140553926		2203	4298	6501	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1510G>A	5.37:g.140553926G>A	ENSP00000231137:p.Val504Ile		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.008963	0.00426	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.60920	0.15	4.34	2.45	0.29901	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27313	0.0670	N	0.02345	-0.59	0.09310	N	1	B	0.23249	0.082	B	0.29785	0.107	T	0.28522	-1.0041	9	0.15952	T	0.53	.	3.4327	0.07434	0.3259:0.0:0.4837:0.1904	.	504	Q9Y5E2	PCDB7_HUMAN	I	504;287	ENSP00000231137:V504I	ENSP00000231137:V504I	V	+	1	0	PCDHB7	140534110	0.000000	0.05858	0.395000	0.26283	0.107000	0.19398	-1.681000	0.01937	0.901000	0.36495	0.552000	0.68991	GTC		0.682	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140553926	G	A	140553926	3	1	176	1	0	0	0	0	1	0	0	0	11549	1261	44	2	1512	2	PCDHB7	5	140553926	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	74074522	140553926	40361334	20	10181											
TCERG1	10915	broad.mit.edu	37	5	145878250	145878250	+	Splice_Site	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:145878250G>A	ENST00000296702.5	+	16	2420		c.e16+1		TCERG1_ENST00000394421.2_Splice_Site	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.?(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGAGAAGGTAAGATGGTT	0.403																																																1	Unknown(1)	kidney(1)											100	111	108					5																	145878250		2203	4300	6503	SO:0001630	splice_region_variant	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2382+1G>A	5.37:g.145878250G>A			Q2NKN2|Q59EA1	Splice_Site	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009517	0.75046	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.96	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4384	0.83889	0.0:0.0:0.8674:0.1326	.	.	.	.	.	-1	.	.	.	+	.	.	TCERG1	145858443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.707000	0.98725	1.490000	0.48466	0.655000	0.94253	.		0.403	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	Intron	A	145878250	G	A	145878250	5	1	176	1	0	0	0	0	0	0	1	0	15690	1275	44	2	2445	2	TCERG1	5	145878250	Splice_Site	SNP	G	TCGA-B0-5085-01A-01D-1462-08	5324324	145878250	35037010	21	10182											
SLC6A7	6534	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149583511	149583511	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:149583511G>C	ENST00000230671.2	+	10	1613	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	SLC6A7_ENST00000524041.1_Missense_Mutation_p.E414D	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	414					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.E414D(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGACAGATGAGTTCCCATACT	0.552																																																1	Substitution - Missense(1)	kidney(1)											102	74	83					5																	149583511		2203	4300	6503	SO:0001583	missense	6534			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1242G>C	5.37:g.149583511G>C	ENSP00000230671:p.Glu414Asp		Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519182	0.64634	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.75367	-0.93;-0.93	5.04	0.12	0.14691	.	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	M	0.77712	2.385	0.45342	D	0.998335	D	0.67145	0.996	D	0.72338	0.977	T	0.81409	-0.0946	10	0.62326	D	0.03	.	10.4209	0.44350	0.5322:0.0:0.4678:0.0	.	414	Q99884	SC6A7_HUMAN	D	414	ENSP00000230671:E414D;ENSP00000428200:E414D	ENSP00000230671:E414D	E	+	3	2	SLC6A7	149563704	0.993000	0.37304	0.944000	0.38274	0.939000	0.58152	0.285000	0.18883	-0.050000	0.13356	0.561000	0.74099	GAG		0.552	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		C	149583511	G	C	149583511	3	2	176	1	0	0	0	0	1	0	0	0	14695	1020	36	4	1280	4	SLC6A7	5	149583511	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	3705261	149583511	31331749	22	10183											
GABRG2	2566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	161520982	161520982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:161520982G>T	ENST00000361925.4	+	2	476	c.256G>T	c.(256-258)Gga>Tga	p.G86*	GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.G86*|GABRG2_ENST00000356592.3_Nonsense_Mutation_p.G86*			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	86					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G86*(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCCTGATATAGGAGGTTTGTT	0.388																																																1	Substitution - Nonsense(1)	kidney(1)											135	131	132					5																	161520982		2203	4300	6503	SO:0001587	stop_gained	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.256G>T	5.37:g.161520982G>T	ENSP00000354651:p.Gly86*		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Nonsense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	41	8.628359	0.98890	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	.	.	.	5.82	5.82	0.92795	.	0.155743	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	ENSP00000349000:G86X	G	+	1	0	GABRG2	161453560	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.357000	0.97099	2.756000	0.94617	0.563000	0.77884	GGA		0.388	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			T	161520982	G	T	161520982	4	4	176	1	0	0	0	0	0	1	0	0	6174	1001	35	4	262	4	GABRG2	5	161520982	Nonsense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	11937471	161520982	19394278	23	10184											
SH3PXD2B	285590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	171789871	171789871	+	Missense_Mutation	SNP	C	C	T	rs368080609	byFrequency	TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:171789871C>T	ENST00000311601.5	-	7	600	c.430G>A	c.(430-432)Ggt>Agt	p.G144S	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.G144S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	144					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.G144S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTTTGGTCACCCCCTGTGGAT	0.547																																																1	Substitution - Missense(1)	kidney(1)											109	96	100					5																	171789871		2203	4300	6503	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.430G>A	5.37:g.171789871C>T	ENSP00000309714:p.Gly144Ser		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025003	0.35701	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.60797	0.41;0.16	5.26	2.9	0.33743	.	1.520140	0.04222	N	0.333638	T	0.42017	0.1184	N	0.24115	0.695	0.40764	D	0.983032	B	0.06786	0.001	B	0.10450	0.005	T	0.25710	-1.0124	10	0.07482	T	0.82	-2.869	7.6373	0.28274	0.0:0.7219:0.0:0.2781	.	144	A1X283	SPD2B_HUMAN	S	144	ENSP00000430890:G144S;ENSP00000309714:G144S	ENSP00000309714:G144S	G	-	1	0	SH3PXD2B	171722476	0.995000	0.38212	0.849000	0.33467	0.920000	0.55202	2.910000	0.48766	0.286000	0.22352	0.655000	0.94253	GGT		0.547	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		T	171789871	C	T	171789871	3	4	176	1	0	0	0	0	1	0	0	0	14263	623	22	2	2333	2	SH3PXD2B	5	171789871	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	10268889	171789871	9125389	24	10185											
JARID2	3720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	15496611	15496611	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr6:15496611A>T	ENST00000341776.2	+	7	1399	c.1155A>T	c.(1153-1155)aaA>aaT	p.K385N	JARID2_ENST00000397311.3_Missense_Mutation_p.K213N|JARID2_ENST00000541660.1_Missense_Mutation_p.K347N	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	385					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K385N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCAATGCAAAAACCCGCAAAC	0.547																																																1	Substitution - Missense(1)	kidney(1)											136	127	130					6																	15496611		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1155A>T	6.37:g.15496611A>T	ENSP00000341280:p.Lys385Asn		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596887	0.86953	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.35421	1.31;1.31;1.31	4.9	4.9	0.64082	.	0.092730	0.64402	D	0.000001	T	0.38480	0.1042	L	0.29908	0.895	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.998;0.986	D;P;P	0.85130	0.997;0.874;0.722	T	0.38520	-0.9657	10	0.62326	D	0.03	-9.6547	14.674	0.68964	1.0:0.0:0.0:0.0	.	347;249;385	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	N	249;385;213;347	ENSP00000341280:K385N;ENSP00000380478:K213N;ENSP00000444623:K347N	ENSP00000341280:K385N	K	+	3	2	JARID2	15604590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.028000	0.93712	2.046000	0.60703	0.533000	0.62120	AAA		0.547	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		T	15496611	A	T	15496611	3	4	176	1	0	0	0	0	1	0	0	0	7947	11	1	5	1181	5	JARID2	6	15496611	Missense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08		15496611	155618456	25	10186											
AARS2	57505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44270802	44270802	+	Splice_Site	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr6:44270802C>A	ENST00000244571.4	-	16	2258		c.e16+1		RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.?(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGTGACTCACGTCCCACAGC	0.632																																																1	Unknown(1)	kidney(1)											51	55	54					6																	44270802		2203	4300	6503	SO:0001630	splice_region_variant	57505			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2255+1G>T	6.37:g.44270802C>A				Splice_Site	SNP	ENST00000244571.4	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818270	0.90790	.	.	ENSG00000124608	ENST00000244571	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0748	0.93156	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AARS2	44378780	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.337000	0.79256	2.733000	0.93635	0.655000	0.94253	.		0.632	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745	Intron	A	44270802	C	A	44270802	5	1	176	1	0	0	0	0	0	0	1	0	20	550	19	4	729	4	AARS2	6	44270802	Splice_Site	SNP	C	TCGA-B0-5085-01A-01D-1462-08	28774191	44270802	126844265	26	10187											
ROS1	6098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	117681074	117681074	+	Silent	SNP	T	T	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr6:117681074T>C	ENST00000368508.3	-	23	3744	c.3546A>G	c.(3544-3546)agA>agG	p.R1182R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.R1177R	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1182					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1182R(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACTGATAACTCTTTCTGCTG	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	2	Substitution - coding silent(2)	kidney(2)											152	144	147					6																	117681074		2203	4300	6503	SO:0001819	synonymous_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3546A>G	6.37:g.117681074T>C			Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	CCDS5116.1																																																																																				0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			C	117681074	T	C	117681074	2	2	176	1	0	0	0	0	0	0	0	1	13537	1548	54	3		3	ROS1	6	117681074	Silent	SNP	T	TCGA-B0-5085-01A-01D-1462-08	73410272	117681074	53433993	27	10188											
THBS2	7058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	169648851	169648851	+	Silent	SNP	G	G	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr6:169648851G>C	ENST00000366787.3	-	4	519	c.270C>G	c.(268-270)ctC>ctG	p.L90L		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	90	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.L90L(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTCCTGCTTGAGCTGGGCCG	0.627																																					Esophageal Squamous(91;219 1934 18562 44706)											1	Substitution - coding silent(1)	kidney(1)											124	106	112					6																	169648851		2203	4300	6503	SO:0001819	synonymous_variant	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.270C>G	6.37:g.169648851G>C			A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.627	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		C	169648851	G	C	169648851	2	2	176	1	0	0	0	0	0	0	0	1	15859	1277	45	4		4	THBS2	6	169648851	Silent	SNP	G	TCGA-B0-5085-01A-01D-1462-08	51967777	169648851	1466216	28	10189											
GNAI1	2770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	79764504	79764504	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr7:79764504A>T	ENST00000351004.3	+	1	401	c.28A>T	c.(28-30)Aag>Tag	p.K10*	GNAI1_ENST00000490206.1_3'UTR|GNAI1_ENST00000457358.2_5'Flank	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	10					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.K10*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						CGCCGAGGACAAGGCGGCGGT	0.687																																																1	Substitution - Nonsense(1)	kidney(1)											15	16	15					7																	79764504		2194	4287	6481	SO:0001587	stop_gained	2770			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.28A>T	7.37:g.79764504A>T	ENSP00000343027:p.Lys10*		A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Nonsense_Mutation	SNP	ENST00000351004.3	37	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	A	40	8.354390	0.98774	.	.	ENSG00000127955	ENST00000442586;ENST00000351004	.	.	.	3.91	2.74	0.32292	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1514	0.31143	0.8999:0.0:0.1001:0.0	.	.	.	.	X	10	.	.	K	+	1	0	GNAI1	79602440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.418000	0.90250	0.556000	0.29098	0.372000	0.22366	AAG		0.687	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		T	79764504	A	T	79764504	4	4	176	1	0	0	0	0	0	1	0	0	6506	131	5	5	30	5	GNAI1	7	79764504	Nonsense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08		79764504	79374159	29	10190											
RBM28	55131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127975595	127975595	+	Splice_Site	SNP	A	A	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr7:127975595A>C	ENST00000223073.2	-	8	1061		c.e8+1		RBM28_ENST00000415472.2_Splice_Site	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ATCCAAACAAACCTTTATCCT	0.388																																																1	Unknown(1)	kidney(1)											92	86	88					7																	127975595		2203	4300	6503	SO:0001630	splice_region_variant	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.946+1T>G	7.37:g.127975595A>C			A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Splice_Site	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430868	0.25726	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2841	0.54783	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM28	127762831	1.000000	0.71417	0.990000	0.47175	0.043000	0.13939	4.054000	0.57434	2.157000	0.67596	0.533000	0.62120	.		0.388	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077	Intron	C	127975595	A	C	127975595	5	2	176	1	0	0	0	0	0	0	1	0	13134	57	2	5	1379	5	RBM28	7	127975595	Splice_Site	SNP	A	TCGA-B0-5085-01A-01D-1462-08	48211091	127975595	31163068	30	10191											
SLC4A2	6522	hgsc.bcm.edu;ucsc.edu	37	7	150771368	150771369	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr7:150771368_150771369insT	ENST00000485713.1	+	17	3818_3819	c.2778_2779insT	c.(2779-2781)tttfs	p.F927fs	RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Frame_Shift_Ins_p.F913fs|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.F845fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.F918fs|SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.F927fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	927	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGCCGGTTCTTTCCTGGCCG	0.644																																																0																																										SO:0001589	frameshift_variant	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2781dupT	7.37:g.150771371_150771371dupT	ENSP00000419412:p.Phe927fs		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Ins	INS	ENST00000485713.1	37	CCDS5917.1																																																																																				0.644	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		T	150771369	-	T	150771368	7	5	176	1	0	1	1	0	0	0	0	0	14660	912	32	0	2840	0	SLC4A2	7	150771368	Frame_Shift_Ins	INS	-	TCGA-B0-5085-01A-01D-1462-08	22795773	150771368	8367295	31	10192											
CLN8	2055	broad.mit.edu;ucsc.edu	37	8	1728427	1728427	+	Silent	SNP	C	C	G	rs145929862		TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr8:1728427C>G	ENST00000331222.4	+	3	802	c.555C>G	c.(553-555)tcC>tcG	p.S185S	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	185	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S185S(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CGGGCTGGTCCGAGTCTCTGT	0.463																																					Pancreas(155;338 1942 6138 10888 50612)											2	Substitution - coding silent(2)	kidney(2)											127	99	108					8																	1728427		2203	4300	6503	SO:0001819	synonymous_variant	2055			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.555C>G	8.37:g.1728427C>G			Q86U71|Q96I95	Silent	SNP	ENST00000331222.4	37	CCDS5956.1																																																																																				0.463	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		G	1728427	C	G	1728427	2	3	176	1	0	0	0	0	0	0	0	1	3548	639	23	4		4	CLN8	8	1728427	Silent	SNP	C	TCGA-B0-5085-01A-01D-1462-08		1728427	144635595	32	10193											
TACC1	6867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38677391	38677391	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr8:38677391A>C	ENST00000317827.4	+	3	1008	c.629A>C	c.(628-630)gAa>gCa	p.E210A	TACC1_ENST00000379931.3_Missense_Mutation_p.E210A|TACC1_ENST00000518415.1_Missense_Mutation_p.E165A|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.E15A|TACC1_ENST00000443286.2_Missense_Mutation_p.E226A|TACC1_ENST00000520973.1_Missense_Mutation_p.E15A|TACC1_ENST00000520340.1_Missense_Mutation_p.E174A|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000519416.1_Missense_Mutation_p.E15A	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	210	Interaction with TDRD7.|Interaction with YEATS4.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.E210A(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GCCTCCGCAGAAGCTGATCTA	0.597																																																2	Substitution - Missense(2)	kidney(2)											35	37	37					8																	38677391		2202	4299	6501	SO:0001583	missense	6867			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.629A>C	8.37:g.38677391A>C	ENSP00000321703:p.Glu210Ala		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	A	8.649	0.897879	0.17686	.	.	ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000521528;ENST00000520973;ENST00000521935;ENST00000524193	T;T;T;T;T;T;T;T;T;T	0.42900	2.74;2.74;2.89;2.88;2.71;2.91;2.92;2.74;1.29;0.96	5.09	5.09	0.68999	.	0.307770	0.31145	N	0.008164	T	0.44787	0.1310	L	0.58101	1.795	0.09310	N	1	P;B;B;B;P;B;P;P	0.49559	0.925;0.075;0.421;0.421;0.763;0.293;0.792;0.873	P;B;B;B;B;B;B;B	0.49597	0.616;0.027;0.04;0.058;0.218;0.079;0.257;0.356	T	0.37842	-0.9688	10	0.29301	T	0.29	-7.4314	8.6282	0.33904	0.9117:0.0:0.0883:0.0	.	15;15;15;226;210;210;15;165	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7	.;.;.;.;.;TACC1_HUMAN;.;.	A	15;15;15;226;165;182;210;210;15;15;15;15	ENSP00000428687:E15A;ENSP00000428450:E15A;ENSP00000393647:E226A;ENSP00000428706:E165A;ENSP00000430355:E182A;ENSP00000321703:E210A;ENSP00000369263:E210A;ENSP00000430959:E15A;ENSP00000428175:E15A;ENSP00000429330:E15A	ENSP00000321703:E210A	E	+	2	0	TACC1	38796548	0.512000	0.26186	0.482000	0.27366	0.032000	0.12392	1.295000	0.33377	1.921000	0.55644	0.456000	0.33151	GAA		0.597	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		C	38677391	A	C	38677391	3	2	176	1	0	0	0	0	1	0	0	0	15506	246	9	5	639	5	TACC1	8	38677391	Missense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08	36948964	38677391	107686631	33	10194											
HNF4G	3174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	76456146	76456146	+	Silent	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr8:76456146A>G	ENST00000354370.1	+	3	348	c.78A>G	c.(76-78)gcA>gcG	p.A26A	HNF4G_ENST00000396423.2_Silent_p.A63A			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	26					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A26A(1)|p.A63A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACTATGGGGCATCCAGCTGTG	0.463																																																2	Substitution - coding silent(2)	kidney(2)											151	128	136					8																	76456146		2203	4300	6503	SO:0001819	synonymous_variant	3174				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.78A>G	8.37:g.76456146A>G			Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37																																																																																					0.463	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		G	76456146	A	G	76456146	2	3	176	1	0	0	0	0	0	0	0	1	7256	204	8	3		3	HNF4G	8	76456146	Silent	SNP	A	TCGA-B0-5085-01A-01D-1462-08	37778755	76456146	69907876	34	10195											
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	77617698	77617698	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr8:77617698G>A	ENST00000521891.2	+	2	1823	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E459K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E459K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E459K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E459K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCAAACGGGGAGTGCCCTGT	0.473										HNSCC(33;0.089)																																						1	Substitution - Missense(1)	kidney(1)											70	70	70					8																	77617698		2008	4176	6184	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1375G>A	8.37:g.77617698G>A	ENSP00000430497:p.Glu459Lys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025971	0.35701	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.82;0.79;0.78	5.65	5.65	0.86999	.	0.154762	0.29451	U	0.012106	T	0.37293	0.0998	N	0.24115	0.695	0.58432	D	0.999999	B;B;B;B	0.34329	0.181;0.449;0.277;0.081	B;B;B;B	0.29077	0.045;0.098;0.098;0.068	T	0.23368	-1.0190	10	0.51188	T	0.08	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	459;459;459;459	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	K	459	ENSP00000430497:E459K;ENSP00000399605:E459K;ENSP00000050961:E459K;ENSP00000430848:E459K	ENSP00000050961:E459K	E	+	1	0	ZFHX4	77780253	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	6.781000	0.75068	2.941000	0.99782	0.655000	0.94253	GAG		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77617698	G	A	77617698	3	1	176	1	0	0	0	0	1	0	0	0	17640	1175	41	2	1377	2	ZFHX4	8	77617698	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	1161552	77617698	68746324	35	10196											
GRINA	2907	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145066243	145066243	+	Silent	SNP	A	A	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr8:145066243A>T	ENST00000313269.5	+	4	968	c.690A>T	c.(688-690)gcA>gcT	p.A230A	GRINA_ENST00000395068.4_Silent_p.A230A	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	230						integral component of membrane (GO:0016021)		p.A230A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCTTGTTGCACTGGTAACCC	0.582																																																1	Substitution - coding silent(1)	kidney(1)											147	143	144					8																	145066243		2203	4300	6503	SO:0001819	synonymous_variant	2907			NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 3"	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.690A>T	8.37:g.145066243A>T			B3KXM7|O43836|Q8IVW7	Silent	SNP	ENST00000313269.5	37	CCDS34961.1	.	.	.	.	.	.	.	.	.	.	A	9.859	1.195816	0.22037	.	.	ENSG00000178719	ENST00000534791	.	.	.	4.84	-8.51	0.00923	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66089	-0.6010	4	.	.	.	-8.7711	13.6868	0.62522	0.1671:0.7283:0.0:0.1046	.	.	.	.	S	154	.	.	T	+	1	0	GRINA	145138231	0.001000	0.12720	0.535000	0.28026	0.813000	0.45954	-1.782000	0.01772	-1.052000	0.03222	0.524000	0.50904	ACT		0.582	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		T	145066243	A	T	145066243	2	4	176	1	0	0	0	0	0	0	0	1	6787	146	6	5		5	GRINA	8	145066243	Silent	SNP	A	TCGA-B0-5085-01A-01D-1462-08	67448545	145066243	1297779	36	10197											
GRHPR	9380	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	37424868	37424868	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr9:37424868A>G	ENST00000318158.6	+	2	195	c.110A>G	c.(109-111)gAt>gGt	p.D37G	GRHPR_ENST00000607784.1_Missense_Mutation_p.D37G|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	37					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)	p.D37G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TGGGACTCGGATGAGCCCATC	0.667																																																1	Substitution - Missense(1)	kidney(1)											49	45	46					9																	37424868		2203	4300	6503	SO:0001583	missense	9380			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.110A>G	9.37:g.37424868A>G	ENSP00000313432:p.Asp37Gly		Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	37	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735132	0.69189	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	T;T	0.77750	-1.12;-1.12	5.98	5.98	0.97165	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.042355	0.85682	D	0.000000	T	0.74951	0.3784	L	0.43701	1.375	0.80722	D	1	B	0.16603	0.018	B	0.31290	0.127	T	0.69457	-0.5140	10	0.34782	T	0.22	0.755	16.1898	0.81977	1.0:0.0:0.0:0.0	.	37	Q9UBQ7	GRHPR_HUMAN	G	37	ENSP00000367055:D37G;ENSP00000313432:D37G	ENSP00000313432:D37G	D	+	2	0	GRHPR	37414868	1.000000	0.71417	0.981000	0.43875	0.514000	0.34195	8.540000	0.90641	2.307000	0.77673	0.529000	0.55759	GAT		0.667	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		G	37424868	A	G	37424868	3	3	176	1	0	0	0	0	1	0	0	0	6768	333	12	3	116	3	GRHPR	9	37424868	Missense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08		37424868	103788563	37	10198											
PNPLA7	375775	broad.mit.edu;ucsc.edu	37	9	140379177	140379178	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr9:140379177_140379178insA	ENST00000277531.4	-	20	2319_2320	c.2133_2134insT	c.(2131-2136)cttgggfs	p.G712fs	PNPLA7_ENST00000371457.1_Frame_Shift_Ins_p.G318fs|PNPLA7_ENST00000406427.1_Frame_Shift_Ins_p.G737fs	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	712					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTGGGGAGCCCAAGCTGGTGGC	0.668																																																0																																										SO:0001589	frameshift_variant	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2134dupT	9.37:g.140379179_140379179dupA	ENSP00000277531:p.Gly712fs		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Frame_Shift_Ins	INS	ENST00000277531.4	37	CCDS7045.1																																																																																				0.668	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		A	140379178	-	A	140379177	7	5	176	1	0	1	1	0	0	0	0	0	12172	594	21	0	1879	0	PNPLA7	9	140379177	Frame_Shift_Ins	INS	-	TCGA-B0-5085-01A-01D-1462-08	102954309	140379177	834254	38	10199											
PRKG1	5592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	53667290	53667290	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr10:53667290C>T	ENST00000401604.2	+	5	871	c.677C>T	c.(676-678)cCt>cTt	p.P226L	PRKG1_ENST00000373980.4_Missense_Mutation_p.P241L|PRKG1_ENST00000373985.1_Missense_Mutation_p.P214L			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	226	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.P241L(1)|p.P226L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CAGAGCCTTCCTGAAGAGATC	0.408																																																2	Substitution - Missense(2)	kidney(2)											209	191	197					10																	53667290		2203	4300	6503	SO:0001583	missense	5592				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.677C>T	10.37:g.53667290C>T	ENSP00000384200:p.Pro226Leu		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869672	0.51588	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.14	5.14	0.70334	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.071575	0.64402	D	0.000012	T	0.40398	0.1115	M	0.82323	2.585	0.54753	D	0.999985	B;P	0.37207	0.404;0.587	B;B	0.35859	0.212;0.164	T	0.49072	-0.8977	10	0.59425	D	0.04	-7.2043	16.0812	0.81005	0.0:1.0:0.0:0.0	.	241;226	Q13976-2;Q13976	.;KGP1_HUMAN	L	226;214;241;99	ENSP00000384200:P226L;ENSP00000363097:P214L;ENSP00000363092:P241L;ENSP00000363087:P99L	ENSP00000363087:P99L	P	+	2	0	PRKG1	53337296	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.652000	0.46682	2.403000	0.81681	0.491000	0.48974	CCT		0.408	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	53667290	C	T	53667290	3	4	176	1	0	0	0	0	1	0	0	0	12527	681	24	2	1010	2	PRKG1	10	53667290	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08		53667290	81867457	39	10200											
RUFY2	55680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70141061	70141061	+	Silent	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr10:70141061A>G	ENST00000602465.1	-	11	1135	c.1035T>C	c.(1033-1035)gaT>gaC	p.D345D	RUFY2_ENST00000388768.2_Silent_p.D380D|RUFY2_ENST00000454950.2_Silent_p.D287D|RUFY2_ENST00000399200.2_Silent_p.D311D|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	394						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.D380D(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CTATCAGAGTATCTTGTTTCT	0.363																																																1	Substitution - coding silent(1)	kidney(1)											224	202	209					10																	70141061		1884	4129	6013	SO:0001819	synonymous_variant	55680			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"Zinc fingers, FYVE domain containing"	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1035T>C	10.37:g.70141061A>G			B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Silent	SNP	ENST00000602465.1	37																																																																																					0.363	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		G	70141061	A	G	70141061	2	3	176	1	0	0	0	0	0	0	0	1	13745	446	16	3		3	RUFY2	10	70141061	Silent	SNP	A	TCGA-B0-5085-01A-01D-1462-08	16473771	70141061	65393686	40	10201											
PSTK	118672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	124742525	124742525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr10:124742525C>T	ENST00000368887.3	+	2	933	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	PSTK_ENST00000405485.1_Nonsense_Mutation_p.Q165*|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	165					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)	p.Q165*(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		TGAAGTCTACCAGCTGGCTCG	0.323																																																1	Substitution - Nonsense(1)	kidney(1)											87	93	91					10																	124742525		2203	4300	6503	SO:0001587	stop_gained	118672			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"chromosome 10 open reading frame 89"	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.493C>T	10.37:g.124742525C>T	ENSP00000357882:p.Gln165*		Q6ZSS9	Nonsense_Mutation	SNP	ENST00000368887.3	37	CCDS7633.1	.	.	.	.	.	.	.	.	.	.	C	41	9.088873	0.99062	.	.	ENSG00000179988	ENST00000368887;ENST00000405485	.	.	.	5.44	5.44	0.79542	.	0.216160	0.40302	N	0.001130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7433	16.1787	0.81885	0.0:1.0:0.0:0.0	.	.	.	.	X	165	.	ENSP00000357882:Q165X	Q	+	1	0	PSTK	124732515	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.139000	0.71728	2.534000	0.85438	0.609000	0.83330	CAG		0.323	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		T	124742525	C	T	124742525	4	4	176	1	0	0	0	0	0	1	0	0	12725	595	21	2	499	2	PSTK	10	124742525	Nonsense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	54601464	124742525	10792222	41	10202											
OR52J3	119679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5068545	5068545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr11:5068545C>T	ENST00000380370.1	+	1	790	c.790C>T	c.(790-792)Cga>Tga	p.R264*		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R264*(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTACTCATCGATTTGGACA	0.438																																																1	Substitution - Nonsense(1)	kidney(1)											237	217	224					11																	5068545		2201	4298	6499	SO:0001587	stop_gained	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.790C>T	11.37:g.5068545C>T	ENSP00000369728:p.Arg264*		Q6IFE4	Nonsense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	7.702	0.693282	0.15039	.	.	ENSG00000205495	ENST00000380370	.	.	.	4.19	-0.0822	0.13699	.	0.185603	0.25961	N	0.027199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9642	0.35865	0.4605:0.4651:0.0:0.0744	.	.	.	.	X	264	.	ENSP00000369728:R264X	R	+	1	2	OR52J3	5025121	0.000000	0.05858	0.131000	0.22000	0.003000	0.03518	-1.679000	0.01940	-0.168000	0.10853	-0.808000	0.03180	CGA		0.438	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		T	5068545	C	T	5068545	4	4	176	1	0	0	0	0	0	1	0	0	11124	876	31	1	792	1	OR52J3	11	5068545	Nonsense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08		5068545	129937971	42	10203											
RPS13	6207	broad.mit.edu;hgsc.bcm.edu	37	11	17098784	17098784	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr11:17098784A>C	ENST00000525634.1	-	3	227	c.82T>G	c.(82-84)Ttg>Gtg	p.L28V	SNORD14B_ENST00000364533.1_RNA|RPS13_ENST00000526895.1_5'UTR|PIK3C2A_ENST00000531428.1_5'Flank|RPS13_ENST00000228140.2_Missense_Mutation_p.L28V|SNORD14A_ENST00000606526.1_RNA			P62277	RS13_HUMAN	ribosomal protein S13	28					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L28V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						TCAGATGTCAACTTCAACCAC	0.498																																																1	Substitution - Missense(1)	kidney(1)											113	106	108					11																	17098784		2200	4294	6494	SO:0001583	missense	6207			X79239	CCDS7823.1	11p	2011-04-05			ENSG00000110700	ENSG00000110700		"S ribosomal proteins"	10386	protein-coding gene	gene with protein product	"40S ribosomal protein S13"	180476				8332508, 9582194	Standard	NM_001017		Approved	S13	uc001mmp.3	P62277	OTTHUMG00000165988	ENST00000525634.1:c.82T>G	11.37:g.17098784A>C	ENSP00000435777:p.Leu28Val		B2R549|P19116|Q02546|Q29200|Q498Y0	Missense_Mutation	SNP	ENST00000525634.1	37	CCDS7823.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052860	0.55218	.	.	ENSG00000110700	ENST00000228140;ENST00000525634;ENST00000533969	T	0.25414	1.8	5.7	-3.2	0.05156	Ribosomal protein S13/S15, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.17534	0.0421	L	0.31120	0.905	0.51482	D	0.999921	B	0.02656	0.0	B	0.04013	0.001	T	0.06643	-1.0815	10	0.34782	T	0.22	-3.5425	17.0228	0.86438	0.1688:0.0:0.8312:0.0	.	28	P62277	RS13_HUMAN	V	28	ENSP00000432096:L28V	ENSP00000228140:L28V	L	-	1	2	RPS13	17055360	1.000000	0.71417	0.988000	0.46212	0.904000	0.53231	1.663000	0.37429	-0.478000	0.06823	0.460000	0.39030	TTG		0.498	RPS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387320.2	NM_001017		C	17098784	A	C	17098784	3	2	176	1	0	0	0	0	1	0	0	0	13629	40	2	5	389	5	RPS13	11	17098784	Missense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08	12030239	17098784	117907732	43	10204											
KCNC1	3746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	17793895	17793895	+	Silent	SNP	T	T	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr11:17793895T>C	ENST00000379472.3	+	2	1284	c.1254T>C	c.(1252-1254)gcT>gcC	p.A418A	KCNC1_ENST00000265969.6_Silent_p.A418A	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	418					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.A418A(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	TGGTGGGGGCTCTGTGTGCGC	0.602																																																2	Substitution - coding silent(2)	kidney(2)											73	74	73					11																	17793895		2200	4293	6493	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1254T>C	11.37:g.17793895T>C			K4DI87	Silent	SNP	ENST00000379472.3	37	CCDS7827.1																																																																																				0.602	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		C	17793895	T	C	17793895	2	2	176	1	0	0	0	0	0	0	0	1	8016	1538	54	3		3	KCNC1	11	17793895	Silent	SNP	T	TCGA-B0-5085-01A-01D-1462-08	695111	17793895	117212621	44	10205											
VSIG2	23584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124619711	124619711	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr11:124619711C>T	ENST00000326621.5	-	4	579	c.479G>A	c.(478-480)gGc>gAc	p.G160D	VSIG2_ENST00000403470.1_Missense_Mutation_p.G160D	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	160	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.G160D(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TGCAGTAGAGCCTCCCACAGA	0.473																																																1	Substitution - Missense(1)	kidney(1)											68	68	68					11																	124619711		2201	4299	6500	SO:0001583	missense	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.479G>A	11.37:g.124619711C>T	ENSP00000318684:p.Gly160Asp		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	9.008	0.981828	0.18812	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.14266	2.52;2.52	5.18	5.18	0.71444	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167764	0.41294	D	0.000901	T	0.14787	0.0357	N	0.13098	0.295	0.41136	D	0.985928	D	0.61080	0.989	P	0.58454	0.839	T	0.08868	-1.0701	10	0.08837	T	0.75	.	14.0585	0.64786	0.0:1.0:0.0:0.0	.	160	Q96IQ7	VSIG2_HUMAN	D	160	ENSP00000318684:G160D;ENSP00000385013:G160D	ENSP00000318684:G160D	G	-	2	0	VSIG2	124124921	0.662000	0.27439	0.988000	0.46212	0.487000	0.33371	1.683000	0.37638	2.680000	0.91292	0.655000	0.94253	GGC		0.473	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		T	124619711	C	T	124619711	3	4	176	1	0	0	0	0	1	0	0	0	17229	739	26	2	520	2	VSIG2	11	124619711	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	106825816	124619711	10386805	45	10206											
LRRC23	10233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7023184	7023184	+	3'UTR	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr12:7023184C>A	ENST00000007969.8	+	0	1406				ENO2_ENST00000535366.1_5'Flank|ENO2_ENST00000541477.1_5'Flank|ENO2_ENST00000544774.1_5'Flank|ENO2_ENST00000545045.2_5'Flank|ENO2_ENST00000229277.1_5'Flank|ENO2_ENST00000538763.1_5'Flank|LRRC23_ENST00000323702.5_Silent_p.I296I|LRRC23_ENST00000443597.2_3'UTR|LRRC23_ENST00000429740.1_3'UTR	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23									p.I296I(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GGCCCAGGATCTGCTCTGTGC	0.622																																																1	Substitution - coding silent(1)	kidney(1)											127	118	121					12																	7023184		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.*154C>A	12.37:g.7023184C>A			A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Silent	SNP	ENST00000007969.8	37	CCDS8569.1																																																																																				0.622	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		A	7023184	C	A	7023184	1	1	176	0	1	0	0	0	0	0	0	0	8980	903	32	4		4	LRRC23	12	7023184	3'UTR	SNP	C	TCGA-B0-5085-01A-01D-1462-08		7023184	126828711	46	10207											
CLEC2D	29121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9822375	9822375	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr12:9822375A>C	ENST00000290855.6	+	1	67	c.45A>C	c.(43-45)gaA>gaC	p.E15D	CLEC2D_ENST00000543300.1_Missense_Mutation_p.E15D|CLEC2D_ENST00000545918.1_Missense_Mutation_p.E15D|CLEC2D_ENST00000487752.1_Intron|CLEC2D_ENST00000261339.6_Missense_Mutation_p.E15D|CLEC2D_ENST00000261340.7_Missense_Mutation_p.E15D	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	15					cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.E15D(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						CACCATCTGAATTGCCTGCAA	0.463																																																2	Substitution - Missense(2)	kidney(2)											115	96	102					12																	9822375		2203	4300	6503	SO:0001583	missense	29121			AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"C-type lectin domain containing"	14351	protein-coding gene	gene with protein product	"C-type lectin related f", "lectin-like transcript 1"	605659	"C-type lectin superfamily 2, member D"				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.45A>C	12.37:g.9822375A>C	ENSP00000290855:p.Glu15Asp		D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Missense_Mutation	SNP	ENST00000290855.6	37	CCDS8602.1	.	.	.	.	.	.	.	.	.	.	A	0.993	-0.693274	0.03303	.	.	ENSG00000069493	ENST00000261340;ENST00000290855;ENST00000545918;ENST00000543300;ENST00000261339;ENST00000466035	T;T;T;T;T;T	0.11930	4.38;4.57;2.75;2.73;4.41;4.34	1.84	-0.728	0.11162	.	.	.	.	.	T	0.05593	0.0147	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.42481	-0.9449	8	.	.	.	-2.819	2.4857	0.04598	0.5236:0.2927:0.1837:0.0	.	15;15	Q9UHP7;Q9UHP7-3	CLC2D_HUMAN;.	D	15;15;15;15;15;9	ENSP00000261340:E15D;ENSP00000290855:E15D;ENSP00000444818:E15D;ENSP00000443065:E15D;ENSP00000261339:E15D;ENSP00000446028:E9D	.	E	+	3	2	CLEC2D	9713642	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.455000	0.06762	-0.192000	0.10432	-0.456000	0.05471	GAA		0.463	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000335424.2	NM_013269		C	9822375	A	C	9822375	3	2	176	1	0	0	0	0	1	0	0	0	3510	98	4	5	47	5	CLEC2D	12	9822375	Missense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08	2799191	9822375	124029520	47	10208											
PRPF40B	25766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50037528	50037528	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr12:50037528A>G	ENST00000380281.1	+	23	2436	c.2372A>G	c.(2371-2373)cAc>cGc	p.H791R	PRPF40B_ENST00000548825.2_Missense_Mutation_p.H812R|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Missense_Mutation_p.H778R			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	791					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.H791R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGAGAAGACACAAGTCGGTG	0.463																																																1	Substitution - Missense(1)	kidney(1)											69	68	69					12																	50037528		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2372A>G	12.37:g.50037528A>G	ENSP00000369634:p.His791Arg		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	A	13.84	2.357573	0.41801	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.23754	1.89;1.9	4.58	4.58	0.56647	.	0.421373	0.22144	N	0.064002	T	0.41026	0.1141	L	0.39147	1.195	0.80722	D	1	D;D;D	0.61080	0.981;0.989;0.989	D;D;D	0.72625	0.95;0.978;0.978	T	0.24476	-1.0159	10	0.62326	D	0.03	-5.9535	13.4273	0.61032	1.0:0.0:0.0:0.0	.	791;778;790	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	R	778;791	ENSP00000261897:H778R;ENSP00000369634:H791R	ENSP00000261897:H778R	H	+	2	0	PRPF40B	48323795	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.872000	0.87187	2.085000	0.62840	0.454000	0.30748	CAC		0.463	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		G	50037528	A	G	50037528	3	3	176	1	0	0	0	0	1	0	0	0	12577	159	6	3	2462	3	PRPF40B	12	50037528	Missense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08	40215153	50037528	83814367	48	10209											
PITPNM2	57605	broad.mit.edu;ucsc.edu	37	12	123488978	123488978	+	Silent	SNP	C	C	T	rs369669482		TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr12:123488978C>T	ENST00000542749.1	-	6	1074	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	PITPNM2_ENST00000320201.4_Silent_p.S337S|PITPNM2_ENST00000392428.1_Silent_p.S58S|PITPNM2_ENST00000280562.5_Silent_p.S337S|PITPNM2_ENST00000546049.1_Silent_p.S375S|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	337					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.S337S(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGCTCTCATCCGAGTCCCTGG	0.592																																																1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	140	102	115		1011	-9.4	0	12		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PITPNM2	NM_020845.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		337/1350	123488978	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1011G>A	12.37:g.123488978C>T			Q9P271	Silent	SNP	ENST00000542749.1	37	CCDS9242.1																																																																																				0.592	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		T	123488978	C	T	123488978	2	4	176	1	0	0	0	0	0	0	0	1	11953	639	23	1		1	PITPNM2	12	123488978	Silent	SNP	C	TCGA-B0-5085-01A-01D-1462-08	73451450	123488978	10362917	49	10210											
COL4A2	1284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	111102707	111102707	+	Silent	SNP	C	C	A	rs367980559		TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr13:111102707C>A	ENST00000360467.5	+	20	1551	c.1245C>A	c.(1243-1245)ccC>ccA	p.P415P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	415	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.P415P(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCGGAGACCCCGGCATCCCTG	0.637																																																1	Substitution - coding silent(1)	kidney(1)											47	52	50					13																	111102707		1894	4120	6014	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1245C>A	13.37:g.111102707C>A			Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																				0.637	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		A	111102707	C	A	111102707	2	1	176	1	0	0	0	0	0	0	0	1	3692	639	23	4		4	COL4A2	13	111102707	Silent	SNP	C	TCGA-B0-5085-01A-01D-1462-08		111102707	4067171	50	10211											
MKRN3	7681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	23811752	23811752	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr15:23811752C>A	ENST00000314520.3	+	1	1299	c.823C>A	c.(823-825)Cac>Aac	p.H275N	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	275	Makorin-type Cys-His.				protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H275N(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCAGACCTTGCACCCCATGGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											95	96	95					15																	23811752		2203	4300	6503	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.823C>A	15.37:g.23811752C>A	ENSP00000313881:p.His275Asn			Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416062	0.42817	.	.	ENSG00000179455	ENST00000314520	T	0.37411	1.2	4.07	3.16	0.36331	.	0.161181	0.53938	D	0.000050	T	0.58004	0.2092	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.62459	-0.6850	10	0.59425	D	0.04	.	10.177	0.42943	0.0:0.9012:0.0:0.0988	.	275	Q13064	MKRN3_HUMAN	N	275	ENSP00000313881:H275N	ENSP00000313881:H275N	H	+	1	0	MKRN3	21362845	1.000000	0.71417	0.881000	0.34555	0.002000	0.02628	5.424000	0.66464	1.314000	0.45095	-0.140000	0.14226	CAC		0.522	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		A	23811752	C	A	23811752	3	1	176	1	0	0	0	0	1	0	0	0	9610	710	25	4	825	4	MKRN3	15	23811752	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08		23811752	78719640	51	10212											
SPRED1	161742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	38616982	38616982	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr15:38616982A>G	ENST00000299084.4	+	4	1255	c.395A>G	c.(394-396)aAt>aGt	p.N132S	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	132					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.N132S(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GAATCAAAAAATGAAGCTGAA	0.313									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)											1	Substitution - Missense(1)	kidney(1)											28	30	29					15																	38616982		2199	4294	6493	SO:0001583	missense	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.395A>G	15.37:g.38616982A>G	ENSP00000299084:p.Asn132Ser		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275776	0.23307	.	.	ENSG00000166068	ENST00000299084	T	0.72167	-0.63	4.05	-3.13	0.05266	.	1.067080	0.07050	N	0.831851	T	0.53530	0.1802	L	0.48642	1.525	0.22112	N	0.999353	B	0.12013	0.005	B	0.11329	0.006	T	0.29941	-0.9995	10	0.15952	T	0.53	-18.3359	1.2587	0.01997	0.3395:0.2986:0.0884:0.2736	.	132	Q7Z699	SPRE1_HUMAN	S	132	ENSP00000299084:N132S	ENSP00000299084:N132S	N	+	2	0	SPRED1	36404274	0.990000	0.36364	0.984000	0.44739	0.993000	0.82548	-0.012000	0.12699	-0.589000	0.05874	0.533000	0.62120	AAT		0.313	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			G	38616982	A	G	38616982	3	3	176	1	0	0	0	0	1	0	0	0	15097	101	4	3	409	3	SPRED1	15	38616982	Missense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08	14805230	38616982	63914410	52	10213											
PRM3	5620	hgsc.bcm.edu	37	16	11367390	11367401	+	IGR	DEL	GCTGTGGCCTGG	GCTGTGGCCTGG	-	rs573431737	byFrequency	TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	GCTGTGGCCTGG	GCTGTGGCCTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr16:11367390_11367401delGCTGTGGCCTGG	ENST00000241808.4	-	0	680				PRM3_ENST00000327157.2_In_Frame_Del_p.PGHS18del|SNORA48_ENST00000390926.1_RNA|RMI2_ENST00000572173.1_Intron	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2						cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						CATGGCCCGTGCTGtggcctgggctgtggcct	0.613																																																1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)								1,3661		0,1,1830						0.4	0.5			26	7,7849		0,7,3921	no	coding	PRM3	NM_021247.1		0,8,5751	A1A1,A1R,RR		0.0891,0.0273,0.0695				8,11510				SO:0001628	intergenic_variant	58531				CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"cancer/testis antigen family 94, member 2"	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317		16.37:g.11367390_11367401delGCTGTGGCCTGG			Q6ZMM0	In_Frame_Del	DEL	ENST00000241808.4	37	CCDS42118.1																																																																																				0.613	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			-	11367401	GCTGTGGCCTGG	-	11367390	6	5	176	0	1	1	0	1	0	0	0	0	12539	1310	46	0		0	PRM3	16	11367390	IGR	DEL	GCTGTGGCCTGG	TCGA-B0-5085-01A-01D-1462-08		11367390	78987363	53	10214											
PAPD5	64282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	50257298	50257298	+	Splice_Site	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr16:50257298G>A	ENST00000561678.1	+	6	1080	c.1006G>A	c.(1006-1008)Ggt>Agt	p.G336S	PAPD5_ENST00000357464.3_Splice_Site_p.G367S|PAPD5_ENST00000436909.3_Splice_Site_p.G446S|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	367	PAP-associated.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)	p.G79S(1)|p.G446S(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TTTACAACCAGGTATTGAAAT	0.363																																																2	Substitution - Missense(2)	kidney(2)											29	28	28					16																	50257298		1850	4097	5947	SO:0001630	splice_region_variant	64282			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1006+1G>A	16.37:g.50257298G>A			B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37		.	.	.	.	.	.	.	.	.	.	G	26.9	4.785797	0.90282	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.74209	-0.82;-0.82	5.87	4.92	0.64577	PAP/25A-associated (1);	0.090454	0.85682	N	0.000000	T	0.75221	0.3820	L	0.28400	0.85	0.80722	D	1	P;P	0.49696	0.927;0.756	P;P	0.55667	0.781;0.656	T	0.76798	-0.2826	10	0.48119	T	0.1	.	15.2994	0.73936	0.0669:0.0:0.9331:0.0	.	446;367	B4DV38;Q8NDF8	.;PAPD5_HUMAN	S	446;367	ENSP00000396995:G446S;ENSP00000350054:G367S	ENSP00000350054:G367S	G	+	1	0	PAPD5	48814799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	1.635000	0.50512	0.655000	0.94253	GGT		0.363	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447	Missense_Mutation	A	50257298	G	A	50257298	5	1	176	1	0	0	0	0	0	0	1	0	11427	1014	35	2	1366	2	PAPD5	16	50257298	Splice_Site	SNP	G	TCGA-B0-5085-01A-01D-1462-08	38889908	50257298	40097455	54	10215											
VAC14	55697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	70816984	70816984	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr16:70816984T>C	ENST00000261776.5	-	7	1023	c.763A>G	c.(763-765)Aag>Gag	p.K255E		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	255					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.K255E(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TCAGCAAACTTCACACTGGAG	0.517																																																1	Substitution - Missense(1)	kidney(1)											131	136	134					16																	70816984		2198	4300	6498	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.763A>G	16.37:g.70816984T>C	ENSP00000261776:p.Lys255Glu		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852682	0.71719	.	.	ENSG00000103043	ENST00000261776	T	0.65916	-0.18	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.31371	0.925	0.80722	D	1	B	0.19706	0.038	B	0.24394	0.053	T	0.45071	-0.9286	10	0.22109	T	0.4	-30.2485	15.4105	0.74914	0.0:0.0:0.0:1.0	.	255	Q08AM6	VAC14_HUMAN	E	255	ENSP00000261776:K255E	ENSP00000261776:K255E	K	-	1	0	VAC14	69374485	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	7.679000	0.84048	2.046000	0.60703	0.459000	0.35465	AAG		0.517	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		C	70816984	T	C	70816984	3	2	176	1	0	0	0	0	1	0	0	0	17116	1792	62	3	1637	3	VAC14	16	70816984	Missense_Mutation	SNP	T	TCGA-B0-5085-01A-01D-1462-08	20559686	70816984	19537769	55	10216											
MYO15A	51168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18049342	18049342	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr17:18049342G>A	ENST00000205890.5	+	30	6768	c.6430G>A	c.(6430-6432)Gct>Act	p.A2144T	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2144	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A2144T(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCCCACAATGCTGAGCGGGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											36	42	40					17																	18049342		2154	4257	6411	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6430G>A	17.37:g.18049342G>A	ENSP00000205890:p.Ala2144Thr		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686606	0.47991	.	.	ENSG00000091536	ENST00000205890	D	0.92348	-3.02	5.5	3.12	0.35913	MyTH4 domain (3);	.	.	.	.	D	0.89174	0.6640	L	0.42529	1.33	0.80722	D	1	P	0.35793	0.521	B	0.40825	0.341	D	0.87155	0.2211	9	0.40728	T	0.16	.	11.6191	0.51106	0.0754:0.0:0.7983:0.1264	.	2144	Q9UKN7	MYO15_HUMAN	T	2144	ENSP00000205890:A2144T	ENSP00000205890:A2144T	A	+	1	0	MYO15A	17990067	0.998000	0.40836	0.769000	0.31535	0.909000	0.53808	3.628000	0.54259	1.296000	0.44742	0.555000	0.69702	GCT		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		A	18049342	G	A	18049342	3	1	176	1	0	0	0	0	1	0	0	0	10065	1319	46	2	6540	2	MYO15A	17	18049342	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08		18049342	63145868	56	10217											
BTBD17	388419	broad.mit.edu;hgsc.bcm.edu	37	17	72353257	72353257	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr17:72353257C>T	ENST00000375366.3	-	3	1102	c.976G>A	c.(976-978)Gtc>Atc	p.V326I		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	326					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.V326I(1)		endometrium(1)|kidney(1)|lung(4)	6						TTGTTGATGACCCACGGGGCG	0.721																																																1	Substitution - Missense(1)	kidney(1)											7	9	8					17																	72353257		2132	4179	6311	SO:0001583	missense	388419				CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"BTB/POZ domain containing"	33758	protein-coding gene	gene with protein product	"transport and golgi organization 10 homolog A (Drosophila)"						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.976G>A	17.37:g.72353257C>T	ENSP00000364515:p.Val326Ile			Missense_Mutation	SNP	ENST00000375366.3	37	CCDS32719.1	.	.	.	.	.	.	.	.	.	.	C	6.487	0.458063	0.12342	.	.	ENSG00000204347	ENST00000375366	T	0.78126	-1.15	4.99	4.99	0.66335	.	0.215229	0.39909	N	0.001223	T	0.60353	0.2262	N	0.12182	0.205	0.37555	D	0.918854	B	0.17465	0.022	B	0.15052	0.012	T	0.60403	-0.7270	10	0.31617	T	0.26	-29.3385	11.792	0.52075	0.0:0.9184:0.0:0.0816	.	326	A6NE02	BTBDH_HUMAN	I	326	ENSP00000364515:V326I	ENSP00000364515:V326I	V	-	1	0	BTBD17	69864852	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.619000	0.24388	2.329000	0.79093	0.456000	0.33151	GTC		0.721	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		T	72353257	C	T	72353257	3	4	176	1	0	0	0	0	1	0	0	0	1544	507	18	2	464	2	BTBD17	17	72353257	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	54303915	72353257	8841953	57	10218											
CDK3	1018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73998146	73998146	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr17:73998146T>A	ENST00000425876.2	+	3	326	c.238T>A	c.(238-240)Ttt>Att	p.F80I	CDK3_ENST00000448471.1_Missense_Mutation_p.F80I|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.F80I(1)		central_nervous_system(1)	1						CTATCTGGTGTTTGAGTTCCT	0.577																																																1	Substitution - Missense(1)	kidney(1)											130	108	116					17																	73998146		2203	4300	6503	SO:0001583	missense	1018			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"Cyclin-dependent kinases"	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.238T>A	17.37:g.73998146T>A	ENSP00000410561:p.Phe80Ile			Missense_Mutation	SNP	ENST00000425876.2	37	CCDS11736.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895969	0.72639	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	T;T	0.65549	-0.16;-0.16	5.29	4.14	0.48551	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000029	T	0.75932	0.3917	M	0.74546	2.27	0.50039	D	0.999847	D	0.89917	1.0	D	0.81914	0.995	T	0.78602	-0.2140	10	0.87932	D	0	-24.2467	10.3923	0.44179	0.1462:0.0:0.0:0.8538	.	80	Q00526	CDK3_HUMAN	I	80	ENSP00000400088:F80I;ENSP00000410561:F80I	ENSP00000410561:F80I	F	+	1	0	CDK3	71509741	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	5.049000	0.64244	2.005000	0.58758	0.533000	0.62120	TTT		0.577	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258		A	73998146	T	A	73998146	3	1	176	1	0	0	0	0	1	0	0	0	3142	1725	60	5	248	5	CDK3	17	73998146	Missense_Mutation	SNP	T	TCGA-B0-5085-01A-01D-1462-08	1644889	73998146	7197064	58	10219											
STARD6	147323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	51863590	51863590	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr18:51863590G>T	ENST00000581310.1	-	6	545	c.172C>A	c.(172-174)Cca>Aca	p.P58T	STARD6_ENST00000580990.2_5'UTR|STARD6_ENST00000307844.3_Missense_Mutation_p.P58T			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	58	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.P58T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AGTTTAGCTGGTGATTCTGGA	0.313																																																1	Substitution - Missense(1)	kidney(1)											145	132	137					18																	51863590		2202	4298	6500	SO:0001583	missense	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"StAR-related lipid transfer (START) domain containing"	18066	protein-coding gene	gene with protein product		607051	"START domain containing 6"			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.172C>A	18.37:g.51863590G>T	ENSP00000462349:p.Pro58Thr			Missense_Mutation	SNP	ENST00000581310.1	37	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.664866	0.00107	.	.	ENSG00000174448	ENST00000307844	T	0.51817	0.69	5.4	-10.8	0.00216	Lipid-binding START (3);START-like domain (1);	0.952109	0.08680	N	0.909525	T	0.19366	0.0465	N	0.12637	0.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14476	-1.0471	10	0.38643	T	0.18	.	4.0506	0.09793	0.2031:0.3949:0.2922:0.1098	.	58	P59095	STAR6_HUMAN	T	58	ENSP00000310814:P58T	ENSP00000310814:P58T	P	-	1	0	STARD6	50117588	0.007000	0.16637	0.003000	0.11579	0.139000	0.21198	-2.053000	0.01400	-2.856000	0.00329	-2.246000	0.00285	CCA		0.313	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171		T	51863590	G	T	51863590	3	4	176	1	0	0	0	0	1	0	0	0	15266	1261	44	4	505	4	STARD6	18	51863590	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08		51863590	26213658	59	10220											
TMPRSS9	360200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2422196	2422196	+	Silent	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr19:2422196G>A	ENST00000332578.3	+	13	2397	c.2397G>A	c.(2395-2397)caG>caA	p.Q799Q		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	799					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.Q799Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGGGGACAGACGCCATTTC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											81	89	86					19																	2422196		2203	4300	6503	SO:0001819	synonymous_variant	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2397G>A	19.37:g.2422196G>A			Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	CCDS12088.1																																																																																				0.647	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		A	2422196	G	A	2422196	2	1	176	1	0	0	0	0	0	0	0	1	16258	933	33	2		2	TMPRSS9	19	2422196	Silent	SNP	G	TCGA-B0-5085-01A-01D-1462-08		2422196	56706787	60	10221											
CRTC1	23373	broad.mit.edu;hgsc.bcm.edu	37	19	18886547	18886547	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr19:18886547C>A	ENST00000321949.8	+	13	1635	c.1609C>A	c.(1609-1611)Ctc>Atc	p.L537I	CRTC1_ENST00000594658.1_Missense_Mutation_p.L496I|CRTC1_ENST00000338797.6_Missense_Mutation_p.L553I|CRTC1_ENST00000601916.1_Missense_Mutation_p.L295I	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.L537I(1)|p.L553I(1)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CATGATGGGCCTCACGGGCAG	0.642																																																2	Substitution - Missense(2)	kidney(2)											40	41	41					19																	18886547		2202	4299	6501	SO:0001583	missense	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1609C>A	19.37:g.18886547C>A	ENSP00000323332:p.Leu537Ile			Missense_Mutation	SNP	ENST00000321949.8	37	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884132	0.51908	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.17528	2.27;2.27	3.51	1.27	0.21489	.	0.080401	0.49916	D	0.000121	T	0.25082	0.0609	L	0.34521	1.04	0.42739	D	0.993735	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.87578	0.991;0.998;0.976	T	0.01537	-1.1330	10	0.45353	T	0.12	-22.0877	8.5662	0.33540	0.0:0.8002:0.0:0.1998	.	508;553;537	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	I	508;553;537	ENSP00000345001:L553I;ENSP00000323332:L537I	ENSP00000262813:L508I	L	+	1	0	CRTC1	18747547	0.972000	0.33761	0.751000	0.31187	0.993000	0.82548	2.370000	0.44240	0.699000	0.31761	0.462000	0.41574	CTC		0.642	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		A	18886547	C	A	18886547	3	1	176	1	0	0	0	0	1	0	0	0	3901	681	24	4	1711	4	CRTC1	19	18886547	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	16464351	18886547	40242436	61	10222											
SPHK2	56848	broad.mit.edu;hgsc.bcm.edu	37	19	49129225	49129225	+	Silent	SNP	G	G	A	rs71335810		TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr19:49129225G>A	ENST00000245222.4	+	3	483	c.117G>A	c.(115-117)ccG>ccA	p.P39P	SPHK2_ENST00000601712.1_Silent_p.P3P|SPHK2_ENST00000598088.1_Silent_p.P39P|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000599748.1_Silent_p.P3P|SPHK2_ENST00000599029.1_Silent_p.P3P|AC022154.7_ENST00000594850.1_RNA|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000340932.3_Silent_p.P3P|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000443164.1_Silent_p.P101P	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	39	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.P39P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCATGGCCCCGCCCCCACCGC	0.692																																																1	Substitution - coding silent(1)	kidney(1)											25	25	25					19																	49129225		2201	4294	6495	SO:0001819	synonymous_variant	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.117G>A	19.37:g.49129225G>A			A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	CCDS12727.1																																																																																				0.692	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			A	49129225	G	A	49129225	2	1	176	1	0	0	0	0	0	0	0	1	15052	1074	38	1		1	SPHK2	19	49129225	Silent	SNP	G	TCGA-B0-5085-01A-01D-1462-08	30242678	49129225	9999758	62	10223											
TGM3	7053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2312884	2312884	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr20:2312884A>G	ENST00000381458.5	+	10	1633	c.1570A>G	c.(1570-1572)Atc>Gtc	p.I524V		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	524					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.I524V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AGCCTGGACCATCATCTACAA	0.527																																																1	Substitution - Missense(1)	kidney(1)											122	96	105					20																	2312884		2203	4300	6503	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1570A>G	20.37:g.2312884A>G	ENSP00000370867:p.Ile524Val		A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.887677	0.52014	.	.	ENSG00000125780	ENST00000381458	T	0.61158	0.13	5.3	5.3	0.74995	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.120354	0.64402	D	0.000013	T	0.54367	0.1854	M	0.69823	2.125	0.41280	D	0.986906	P	0.41597	0.756	B	0.37550	0.253	T	0.56300	-0.8002	10	0.25106	T	0.35	-12.2151	13.2379	0.59979	1.0:0.0:0.0:0.0	.	524	Q08188	TGM3_HUMAN	V	524	ENSP00000370867:I524V	ENSP00000370867:I524V	I	+	1	0	TGM3	2260884	0.999000	0.42202	1.000000	0.80357	0.865000	0.49528	3.868000	0.56055	2.225000	0.72522	0.533000	0.62120	ATC		0.527	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		G	2312884	A	G	2312884	3	3	176	1	0	0	0	0	1	0	0	0	15836	217	8	3	1608	3	TGM3	20	2312884	Missense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08		2312884	60712636	63	10224											
NFATC2	4773	broad.mit.edu;ucsc.edu	37	20	50092197	50092197	+	Splice_Site	DEL	G	G	-			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr20:50092197delG	ENST00000396009.3	-	4	1552	c.1333delC	c.(1333-1335)ctc>tc	p.L445fs	NFATC2_ENST00000610033.1_Splice_Site_p.L226fs|NFATC2_ENST00000414705.1_Splice_Site_p.L425fs|NFATC2_ENST00000371564.3_Splice_Site_p.L445fs|NFATC2_ENST00000609507.1_Splice_Site_p.L226fs|NFATC2_ENST00000609943.1_Splice_Site_p.L425fs	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	445	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TAGCCATGGAGCTGGTGGGGG	0.502																																																0													59	55	57					20																	50092197		2203	4300	6503	SO:0001630	splice_region_variant	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1333-1C>-	20.37:g.50092197delG			B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Frame_Shift_Del	DEL	ENST00000396009.3	37	CCDS13437.1																																																																																				0.502	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	Frame_Shift_Del	-	50092197	G	-	50092197	8	5	176	1	0	1	0	1	0	0	1	0	10364	985	34	0	1520	0	NFATC2	20	50092197	Splice_Site	DEL	G	TCGA-B0-5085-01A-01D-1462-08	47779313	50092197	12933323	64	10225											
GRAP2	9402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40343157	40343157	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr22:40343157A>T	ENST00000344138.4	+	2	310	c.47A>T	c.(46-48)gAa>gTa	p.E16V	GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000543252.1_Missense_Mutation_p.E16V|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.E16V|GRAP2_ENST00000399090.2_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	16	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.E16V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGTGAGGATGAACTGAGCTTT	0.498																																																1	Substitution - Missense(1)	kidney(1)											197	176	183					22																	40343157		2203	4300	6503	SO:0001583	missense	9402			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.47A>T	22.37:g.40343157A>T	ENSP00000339186:p.Glu16Val		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.587922	0.86851	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000420971;ENST00000407075	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.65	5.65	0.86999	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90947	0.4802	10	0.87932	D	0	-27.9514	13.4087	0.60929	1.0:0.0:0.0:0.0	.	16;16	Q6FI14;O75791	.;GRAP2_HUMAN	V	16	ENSP00000339186:E16V;ENSP00000446350:E16V;ENSP00000396355:E16V;ENSP00000385607:E16V	ENSP00000339186:E16V	E	+	2	0	GRAP2	38673103	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	5.800000	0.69108	2.150000	0.67090	0.455000	0.32223	GAA		0.498	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		T	40343157	A	T	40343157	3	4	176	1	0	0	0	0	1	0	0	0	6756	246	9	5	49	5	GRAP2	22	40343157	Missense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08		40343157	10961409	65	10226											
TTLL1	25809	broad.mit.edu;ucsc.edu	37	22	43464519	43464519	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr22:43464519T>G	ENST00000266254.7	-	5	640	c.400A>C	c.(400-402)Acc>Ccc	p.T134P	TTLL1_ENST00000331018.7_Missense_Mutation_p.T134P	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	134	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)	p.T134P(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ATGATCCAGGTGCTGGACGGG	0.527																																																1	Substitution - Missense(1)	kidney(1)											184	183	183					22																	43464519		2203	4300	6503	SO:0001583	missense	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.400A>C	22.37:g.43464519T>G	ENSP00000266254:p.Thr134Pro		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.481985	0.63849	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.02552	4.25;4.25	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	M	0.70903	2.155	0.80722	D	1	B;B	0.24882	0.113;0.105	B;B	0.33750	0.105;0.169	T	0.19031	-1.0318	10	0.32370	T	0.25	.	15.6775	0.77338	0.0:0.0:0.0:1.0	.	134;134	O95922-4;O95922	.;TTLL1_HUMAN	P	134	ENSP00000333734:T134P;ENSP00000266254:T134P	ENSP00000266254:T134P	T	-	1	0	TTLL1	41794463	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.614000	0.82996	2.104000	0.64026	0.533000	0.62120	ACC		0.527	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		G	43464519	T	G	43464519	3	3	176	1	0	0	0	0	1	0	0	0	16727	1696	59	5	899	5	TTLL1	22	43464519	Missense_Mutation	SNP	T	TCGA-B0-5085-01A-01D-1462-08	3121362	43464519	7840047	66	10227											
MAP3K15	389840	hgsc.bcm.edu;ucsc.edu	37	X	19379616	19379617	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:19379616_19379617insA	ENST00000338883.4	-	27	3773_3774	c.3774_3775insT	c.(3772-3777)attgaafs	p.E1259fs	MAP3K15_ENST00000469203.2_Frame_Shift_Ins_p.E1091fs|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000540249.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000359173.3_Frame_Shift_Ins_p.E694fs|PDHA1_ENST00000422285.2_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1259							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTTACCTTTTCAATTGTCTTTG	0.416																																																0																																										SO:0001589	frameshift_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3775dupT	X.37:g.19379618_19379618dupA	ENSP00000345629:p.Glu1259fs		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Frame_Shift_Del	INS	ENST00000338883.4	37																																																																																					0.416	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		A	19379617	-	A	19379616	7	5	176	1	0	1	1	0	0	0	0	0	9251	835	29	0	178	0	MAP3K15	23	19379616	Frame_Shift_Ins	INS	-	TCGA-B0-5085-01A-01D-1462-08		19379616	135890944	67	10228											
DDX53	168400	broad.mit.edu;hgsc.bcm.edu	37	X	23018221	23018221	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:23018221G>A	ENST00000327968.5	+	1	135	c.47G>A	c.(46-48)aGa>aAa	p.R16K	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	16						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.R16K(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GCTAATCCAAGAGACCTTGGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											40	33	35					X																	23018221		2202	4300	6502	SO:0001583	missense	168400			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.47G>A	X.37:g.23018221G>A	ENSP00000368667:p.Arg16Lys		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200939	0.38905	.	.	ENSG00000184735	ENST00000327968	T	0.19669	2.13	4.26	2.45	0.29901	.	0.577856	0.12428	U	0.469839	T	0.19565	0.0470	L	0.58101	1.795	0.09310	N	1	B	0.22909	0.077	B	0.17722	0.019	T	0.20605	-1.0270	10	0.41790	T	0.15	.	6.3688	0.21469	0.2498:0.0:0.7502:0.0	.	16	Q86TM3	DDX53_HUMAN	K	16	ENSP00000368667:R16K	ENSP00000368667:R16K	R	+	2	0	DDX53	22928142	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.931000	0.28871	0.357000	0.24183	0.600000	0.82982	AGA		0.627	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		A	23018221	G	A	23018221	3	1	176	1	0	0	0	0	1	0	0	0	4373	942	33	2	49	2	DDX53	23	23018221	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	3638605	23018221	132252339	68	10229											
DCAF8L2	347442	broad.mit.edu;ucsc.edu	37	X	27766433	27766433	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:27766433G>T	ENST00000451261.2	+	5	1820	c.1421G>T	c.(1420-1422)gGt>gTt	p.G474V		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	474								p.G441V(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ACAGTCAAAGGTGTTAATTTC	0.428																																																1	Substitution - Missense(1)	kidney(1)											77	53	60					X																	27766433		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1421G>T	X.37:g.27766433G>T	ENSP00000462745:p.Gly474Val		B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																				0.428	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		T	27766433	G	T	27766433	3	4	176	1	0	0	0	0	1	0	0	0	4280	1261	44	4	1423	4	DCAF8L2	23	27766433	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	4748212	27766433	127504127	69	10230											
DDX3X	1654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	41203496	41203496	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:41203496C>T	ENST00000399959.2	+	10	1724	c.869C>T	c.(868-870)tCa>tTa	p.S290L	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Silent_p.F305F|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000457138.2_Missense_Mutation_p.S274L|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	290	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.S290L(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTATAGTTTTCATACCGATCT	0.353										HNSCC(61;0.18)																																						1	Substitution - Missense(1)	kidney(1)											167	155	159					X																	41203496		2203	4300	6503	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.869C>T	X.37:g.41203496C>T	ENSP00000382840:p.Ser290Leu		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	c	35	5.543316	0.96474	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.03951	3.75;3.75	5.71	5.71	0.89125	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.269977	0.37809	N	0.001938	T	0.14056	0.0340	L	0.38531	1.155	0.80722	D	1	P;P;P;D;D	0.56521	0.952;0.763;0.902;0.976;0.976	P;P;P;P;P	0.61477	0.775;0.452;0.452;0.889;0.889	T	0.00510	-1.1697	10	0.87932	D	0	-19.2378	18.8917	0.92407	0.0:1.0:0.0:0.0	.	290;274;290;302;290	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	L	290;274	ENSP00000382840:S290L;ENSP00000392494:S274L	ENSP00000382840:S290L	S	+	2	0	DDX3X	41088440	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.770000	0.85390	2.408000	0.81797	0.597000	0.82753	TCA		0.353	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		T	41203496	C	T	41203496	3	4	176	1	0	0	0	0	1	0	0	0	4360	838	29	2	907	2	DDX3X	23	41203496	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	13437063	41203496	114067064	70	10231											
PHF16	9767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	46917973	46917973	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:46917973A>C	ENST00000218343.4	+	11	2264	c.1966A>C	c.(1966-1968)Aaa>Caa	p.K656Q	PHF16_ENST00000397189.1_Missense_Mutation_p.K656Q	NM_014735.3	NP_055550.1												p.K656Q(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGGGAATGGGAAAAGTCAGCC	0.537																																																1	Substitution - Missense(1)	kidney(1)											47	41	43					X																	46917973		2203	4300	6503	SO:0001583	missense	9767																														ENST00000218343.4:c.1966A>C	X.37:g.46917973A>C	ENSP00000218343:p.Lys656Gln			Missense_Mutation	SNP	ENST00000218343.4	37	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.200558	0.38905	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.55052	0.54;0.54	5.64	5.64	0.86602	.	0.658965	0.16126	N	0.228432	T	0.47544	0.1451	L	0.32530	0.975	0.38800	D	0.955185	D	0.53619	0.961	P	0.47206	0.541	T	0.44967	-0.9293	10	0.34782	T	0.22	.	11.5954	0.50970	0.8427:0.1573:0.0:0.0	.	656	Q92613	JADE3_HUMAN	Q	656	ENSP00000380373:K656Q;ENSP00000218343:K656Q	ENSP00000218343:K656Q	K	+	1	0	PHF16	46802917	1.000000	0.71417	0.957000	0.39632	0.936000	0.57629	5.341000	0.65964	1.886000	0.54624	0.486000	0.48141	AAA		0.537	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			C	46917973	A	C	46917973	3	2	176	1	0	0	0	0	1	0	0	0	11829	247	9	5	2004	5	PHF16	23	46917973	Missense_Mutation	SNP	A	TCGA-B0-5085-01A-01D-1462-08	5714477	46917973	108352587	71	10232											
HUWE1	10075	broad.mit.edu;hgsc.bcm.edu	37	X	53674403	53674403	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:53674403C>G	ENST00000342160.3	-	5	716	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.E87Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.E87Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	87					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E87Q(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTCAGTTGCTCTCTTTCTGGC	0.493																																																2	Substitution - Missense(2)	kidney(2)											176	143	154					X																	53674403		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.259G>C	X.37:g.53674403C>G	ENSP00000340648:p.Glu87Gln		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779879	0.49891	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528;ENST00000446750	T;T;T	0.46451	1.14;1.14;0.87	5.6	5.6	0.85130	.	0.064924	0.64402	D	0.000010	T	0.24586	0.0596	N	0.14661	0.345	0.36724	D	0.88131	P	0.40000	0.698	B	0.26693	0.072	T	0.26430	-1.0103	10	0.40728	T	0.16	.	17.3006	0.87182	0.0:1.0:0.0:0.0	.	87	Q7Z6Z7	HUWE1_HUMAN	Q	87	ENSP00000340648:E87Q;ENSP00000262854:E87Q;ENSP00000218328:E87Q	ENSP00000218328:E87Q	E	-	1	0	HUWE1	53691128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.684000	0.61686	2.353000	0.79882	0.600000	0.82982	GAG		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		G	53674403	C	G	53674403	3	3	176	1	0	0	0	0	1	0	0	0	7463	922	32	4	13181	4	HUWE1	23	53674403	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	6756430	53674403	101596157	72	10233											
OGT	8473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	70784541	70784541	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:70784541G>A	ENST00000373719.3	+	19	2744	c.2527G>A	c.(2527-2529)Gta>Ata	p.V843I	OGT_ENST00000373701.3_Missense_Mutation_p.V833I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	843					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.V833I(1)|p.V843I(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGATGCCATCGTATACTGTAA	0.403																																																2	Substitution - Missense(2)	kidney(2)											133	110	118					X																	70784541		2203	4300	6503	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2527G>A	X.37:g.70784541G>A	ENSP00000362824:p.Val843Ile		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297387	0.40694	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.17691	2.26;2.26	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	L	0.35341	1.055	0.80722	D	1	D;D;B	0.71674	0.996;0.998;0.169	D;D;B	0.70716	0.97;0.966;0.082	T	0.02232	-1.1191	10	0.23302	T	0.38	.	18.2254	0.89915	0.0:0.0:1.0:0.0	.	717;833;843	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	I	843;833	ENSP00000362824:V843I;ENSP00000362805:V833I	ENSP00000362805:V833I	V	+	1	0	OGT	70701266	1.000000	0.71417	0.995000	0.50966	0.065000	0.16274	9.778000	0.99011	2.329000	0.79093	0.600000	0.82982	GTA		0.403	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		A	70784541	G	A	70784541	3	1	176	1	0	0	0	0	1	0	0	0	10849	1145	40	1	2601	1	OGT	23	70784541	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	17110138	70784541	84486019	73	10234											
PHKA1	5255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	71831023	71831023	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:71831023C>A	ENST00000373542.4	-	22	2540	c.2381G>T	c.(2380-2382)tGg>tTg	p.W794L	PHKA1_ENST00000339490.3_Missense_Mutation_p.W794L|PHKA1_ENST00000373545.3_Missense_Mutation_p.W735L|PHKA1_ENST00000373539.3_Missense_Mutation_p.W794L|PHKA1_ENST00000541944.1_Missense_Mutation_p.W735L	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	794					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.W794L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTCAGTGTTCCAGTCAGGTCC	0.423																																																1	Substitution - Missense(1)	kidney(1)											70	63	66					X																	71831023		2203	4300	6503	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2381G>T	X.37:g.71831023C>A	ENSP00000362643:p.Trp794Leu		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951176	0.73787	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91740	-2.82;-2.88;-2.9;-2.89;-2.8	5.85	5.85	0.93711	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.96037	0.8709	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.91635	0.999;0.966;0.98	D	0.95792	0.8825	10	0.49607	T	0.09	-12.0707	16.3512	0.83208	0.0:1.0:0.0:0.0	.	735;794;794	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	L	735;794;735;794;794	ENSP00000362646:W735L;ENSP00000362643:W794L;ENSP00000441251:W735L;ENSP00000342469:W794L;ENSP00000362640:W794L	ENSP00000342469:W794L	W	-	2	0	PHKA1	71747748	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.329000	0.79170	2.467000	0.83353	0.600000	0.82982	TGG		0.423	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			A	71831023	C	A	71831023	3	1	176	1	0	0	0	0	1	0	0	0	11845	595	21	4	1334	4	PHKA1	23	71831023	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	1046482	71831023	83439537	74	10235											
LPAR4	2846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	78011131	78011131	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:78011131G>T	ENST00000435339.3	+	2	1151	c.765G>T	c.(763-765)atG>atT	p.M255I		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	255					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.M255I(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CAGTACATATGGCAGTCTTTG	0.428																																																1	Substitution - Missense(1)	kidney(1)											147	111	123					X																	78011131		2203	4300	6503	SO:0001583	missense	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.765G>T	X.37:g.78011131G>T	ENSP00000408205:p.Met255Ile		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475542	0.26511	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.71698	-0.59;-0.59	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.157066	0.43747	U	0.000531	T	0.50188	0.1601	N	0.05078	-0.115	0.39842	D	0.973123	B	0.02656	0.0	B	0.04013	0.001	T	0.51371	-0.8714	10	0.45353	T	0.12	.	14.2276	0.65871	0.0:0.0:1.0:0.0	.	255	Q99677	LPAR4_HUMAN	I	255	ENSP00000408205:M255I;ENSP00000362398:M255I	ENSP00000362398:M255I	M	+	3	0	LPAR4	77897787	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.309000	0.51903	1.898000	0.54952	0.422000	0.28245	ATG		0.428	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		T	78011131	G	T	78011131	3	4	176	1	0	0	0	0	1	0	0	0	8909	1348	47	4	767	4	LPAR4	23	78011131	Missense_Mutation	SNP	G	TCGA-B0-5085-01A-01D-1462-08	6180108	78011131	77259429	75	10236											
IGSF1	3547	broad.mit.edu;ucsc.edu	37	X	130416649	130416649	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:130416649C>A	ENST00000361420.3	-	7	1094	c.1015G>T	c.(1015-1017)Gtg>Ttg	p.V339L	IGSF1_ENST00000370903.3_Missense_Mutation_p.V339L|IGSF1_ENST00000370910.1_Missense_Mutation_p.V330L|IGSF1_ENST00000370904.1_Missense_Mutation_p.V330L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	339	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.V339L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CGTAGGCTCACATTCTGACCC	0.493																																																1	Substitution - Missense(1)	kidney(1)											123	105	111					X																	130416649		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1015G>T	X.37:g.130416649C>A	ENSP00000355010:p.Val339Leu		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	7.245	0.602077	0.13939	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01099	5.34;5.34;5.34;5.34	4.78	-0.0138	0.13982	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.835072	0.10348	N	0.685457	T	0.02455	0.0075	M	0.82193	2.58	0.09310	N	1	B;B	0.18741	0.029;0.03	B;B	0.25291	0.02;0.059	T	0.31447	-0.9943	10	0.45353	T	0.12	.	7.5492	0.27786	0.0:0.4937:0.0:0.5063	.	330;339	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	L	330;339;330;339	ENSP00000359947:V330L;ENSP00000355010:V339L;ENSP00000359941:V330L;ENSP00000359940:V339L	ENSP00000355010:V339L	V	-	1	0	IGSF1	130244330	0.003000	0.15002	0.010000	0.14722	0.077000	0.17291	-0.528000	0.06193	-0.265000	0.09352	0.594000	0.82650	GTG		0.493	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			A	130416649	C	A	130416649	3	1	176	1	0	0	0	0	1	0	0	0	7598	478	17	4	3066	4	IGSF1	23	130416649	Missense_Mutation	SNP	C	TCGA-B0-5085-01A-01D-1462-08	52405518	130416649	24853911	76	10237											
MYOM3	127294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24432548	24432548	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:24432548T>C	ENST00000374434.3	-	5	584	c.422A>G	c.(421-423)gAg>gGg	p.E141G	MYOM3_ENST00000329601.7_Missense_Mutation_p.E141G|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.E142G	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	141						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.E141G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTCCTTGGCCTCCTGGACCTT	0.637																																																1	Substitution - Missense(1)	kidney(1)											48	60	56					1																	24432548		2105	4205	6310	SO:0001583	missense	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.422A>G	1.37:g.24432548T>C	ENSP00000363557:p.Glu141Gly		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	T	9.391	1.075443	0.20227	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.56275	0.49;0.5;0.47	5.34	5.34	0.76211	.	0.421269	0.24274	N	0.039972	T	0.36082	0.0954	N	0.14661	0.345	0.24740	N	0.993041	B;B	0.26147	0.143;0.094	B;B	0.33960	0.173;0.023	T	0.26643	-1.0097	10	0.26408	T	0.33	.	8.7411	0.34558	0.1688:0.0:0.0:0.8312	.	141;141	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	G	141;142;141	ENSP00000363557:E141G;ENSP00000332670:E142G;ENSP00000328415:E141G	ENSP00000328415:E141G	E	-	2	0	MYOM3	24305135	0.607000	0.26958	1.000000	0.80357	0.465000	0.32709	0.333000	0.19768	2.036000	0.60181	0.379000	0.24179	GAG		0.637	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		C	24432548	T	C	24432548	3	2	177	1	0	0	0	0	1	0	0	0	10095	1551	54	3	4023	3	MYOM3	1	24432548	Missense_Mutation	SNP	T	TCGA-B0-5088-01A-01D-1462-08		24432548	224818073	1	10238											
GNL2	29889	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	38059398	38059398	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:38059398G>A	ENST00000373062.3	-	2	212	c.114C>T	c.(112-114)atC>atT	p.I38I		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	38					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.I38I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TCAGGCGCCGGATGGTGGCCC	0.507																																																1	Substitution - coding silent(1)	kidney(1)											104	101	102					1																	38059398		2203	4300	6503	SO:0001819	synonymous_variant	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.114C>T	1.37:g.38059398G>A			Q9BWN7	Silent	SNP	ENST00000373062.3	37	CCDS421.1																																																																																				0.507	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		A	38059398	G	A	38059398	2	1	177	1	0	0	0	0	0	0	0	1	6538	1164	41	2		2	GNL2	1	38059398	Silent	SNP	G	TCGA-B0-5088-01A-01D-1462-08	13626850	38059398	211191223	2	10239											
AKNAD1	254268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109366227	109366227	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:109366227G>A	ENST00000370001.3	-	12	2288	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	AKNAD1_ENST00000369995.3_Missense_Mutation_p.P674S|AKNAD1_ENST00000369994.1_Missense_Mutation_p.P644S|AKNAD1_ENST00000357393.4_Missense_Mutation_p.P381S	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	674						cytoplasm (GO:0005737)		p.P674S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CGGGAGGTAGGAATCTTAGTG	0.483																																																1	Substitution - Missense(1)	kidney(1)											136	116	123					1																	109366227		2203	4300	6503	SO:0001583	missense	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2020C>T	1.37:g.109366227G>A	ENSP00000359018:p.Pro674Ser		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	9.593	1.126765	0.20959	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.78	2.67	0.31697	.	1.887340	0.02837	N	0.127520	T	0.04272	0.0118	N	0.19112	0.55	0.09310	N	1	B;B	0.15141	0.012;0.004	B;B	0.11329	0.004;0.006	T	0.31888	-0.9927	10	0.44086	T	0.13	3.3312	7.429	0.27115	0.2186:0.0:0.7814:0.0	.	381;674	B4DET8;Q5T1N1	.;AKND1_HUMAN	S	674;381;644;674	ENSP00000359018:P674S;ENSP00000349968:P381S;ENSP00000359011:P644S;ENSP00000359012:P674S	ENSP00000349968:P381S	P	-	1	0	AKNAD1	109167750	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.248000	0.18198	0.501000	0.28013	0.561000	0.74099	CCT		0.483	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		A	109366227	G	A	109366227	3	1	177	1	0	0	0	0	1	0	0	0	464	1174	41	2	510	2	AKNAD1	1	109366227	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08	71306829	109366227	139884394	3	10240											
PSMB4	5692	hgsc.bcm.edu;ucsc.edu	37	1	151372944	151372945	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:151372944_151372945insT	ENST00000290541.6	+	3	428_429	c.374_375insT	c.(373-378)ggacacfs	p.H126fs		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	126					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 inflammatory response to antigenic stimulus (GO:0002862)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGGAGATGGACACAGCTATA	0.495																																																0																																										SO:0001589	frameshift_variant	5692			D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"Proteasome (prosome, macropain) subunits"	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	Exception_encountered	1.37:g.151372944_151372945insT	ENSP00000290541:p.His126fs		B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Frame_Shift_Ins	INS	ENST00000290541.6	37	CCDS996.1																																																																																				0.495	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		T	151372945	-	T	151372944	7	5	177	1	0	1	1	0	0	0	0	0	12684	1174	41	0	384	0	PSMB4	1	151372944	Frame_Shift_Ins	INS	-	TCGA-B0-5088-01A-01D-1462-08	42006717	151372944	97877677	4	10241											
METTL13	51603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171756920	171756920	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:171756920C>G	ENST00000361735.3	+	4	1425	c.1159C>G	c.(1159-1161)Cag>Gag	p.Q387E	METTL13_ENST00000367737.5_Missense_Mutation_p.Q231E|METTL13_ENST00000362019.3_Missense_Mutation_p.Q301E|METTL13_ENST00000458517.1_Missense_Mutation_p.Q386E	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	387							methyltransferase activity (GO:0008168)	p.Q387E(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCGGACCGTTCAGCACCAAGA	0.517																																																1	Substitution - Missense(1)	kidney(1)											82	71	74					1																	171756920		2203	4300	6503	SO:0001583	missense	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1159C>G	1.37:g.171756920C>G	ENSP00000354920:p.Gln387Glu		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	4.981	0.182162	0.09495	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.71	4.8	0.61643	.	0.529195	0.21175	N	0.078914	T	0.58075	0.2097	L	0.44542	1.39	0.29220	N	0.874019	B;P;B	0.38195	0.128;0.622;0.358	B;B;B	0.36092	0.044;0.217;0.07	T	0.58047	-0.7705	10	0.51188	T	0.08	-24.9536	14.3813	0.66914	0.0:0.9281:0.0:0.0719	.	386;231;387	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	E	386;301;231;387	ENSP00000401955:Q386E;ENSP00000355393:Q301E;ENSP00000356711:Q231E;ENSP00000354920:Q387E	ENSP00000354920:Q387E	Q	+	1	0	METTL13	170023543	1.000000	0.71417	0.593000	0.28771	0.009000	0.06853	2.362000	0.44169	1.415000	0.47037	-0.140000	0.14226	CAG		0.517	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		G	171756920	C	G	171756920	3	3	177	1	0	0	0	0	1	0	0	0	9499	827	29	4	1173	4	METTL13	1	171756920	Missense_Mutation	SNP	C	TCGA-B0-5088-01A-01D-1462-08	20383976	171756920	77493701	5	10242											
KDM5B	10765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202777266	202777266	+	Silent	SNP	G	G	C	rs150129345		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:202777266G>C	ENST00000367265.3	-	1	1332	c.168C>G	c.(166-168)gcC>gcG	p.A56A	PCAT6_ENST00000425295.1_RNA|RP11-480I12.10_ENST00000564127.1_RNA|PCAT6_ENST00000417262.1_RNA|KDM5B_ENST00000367264.2_Silent_p.A56A|PCAT6_ENST00000553157.1_RNA	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	56	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A56A(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CAGTCTGCTCGGCTATGGGCC	0.682																																																1	Substitution - coding silent(1)	kidney(1)											35	46	42					1																	202777266		2203	4300	6503	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.168C>G	1.37:g.202777266G>C			O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	CCDS30974.1																																																																																				0.682	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		C	202777266	G	C	202777266	2	2	177	1	0	0	0	0	0	0	0	1	8136	1103	39	4		4	KDM5B	1	202777266	Silent	SNP	G	TCGA-B0-5088-01A-01D-1462-08	31020346	202777266	46473355	6	10243											
LYST	1130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235894212	235894212	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:235894212A>C	ENST00000389794.3	-	36	9153	c.8979T>G	c.(8977-8979)ttT>ttG	p.F2993L	LYST_ENST00000389793.2_Missense_Mutation_p.F2993L|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2993					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.F2993L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTGTCTTCAAACAGGTAAG	0.333																																																1	Substitution - Missense(1)	kidney(1)											112	120	118					1																	235894212		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8979T>G	1.37:g.235894212A>C	ENSP00000374444:p.Phe2993Leu		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240572	0.58995	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61859	0.07;0.07	5.76	4.64	0.57946	.	0.095658	0.85682	N	0.000000	T	0.47358	0.1441	L	0.43152	1.355	0.80722	D	1	P	0.44986	0.847	B	0.37601	0.254	T	0.49588	-0.8924	10	0.62326	D	0.03	.	11.6179	0.51099	0.9307:0.0:0.0693:0.0	.	2993	Q99698	LYST_HUMAN	L	2993	ENSP00000374444:F2993L;ENSP00000374443:F2993L	ENSP00000374443:F2993L	F	-	3	2	LYST	233960835	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.164000	0.50770	1.011000	0.39340	0.482000	0.46254	TTT		0.333	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235894212	A	C	235894212	3	2	177	1	0	0	0	0	1	0	0	0	9130	127	5	5	2498	5	LYST	1	235894212	Missense_Mutation	SNP	A	TCGA-B0-5088-01A-01D-1462-08	33116946	235894212	13356409	7	10244											
FMN2	56776	broad.mit.edu;ucsc.edu	37	1	240370625	240370625	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:240370625A>G	ENST00000319653.9	+	5	2743	c.2513A>G	c.(2512-2514)cAa>cGa	p.Q838R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	838	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.Q981R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCGAGTTTCAAACCAGCCAC	0.547																																																1	Substitution - Missense(1)	kidney(1)											91	88	89					1																	240370625		2203	4300	6503	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2513A>G	1.37:g.240370625A>G	ENSP00000318884:p.Gln838Arg		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	6.788	0.514447	0.12944	.	.	ENSG00000155816	ENST00000319653	T	0.25749	1.78	4.09	1.57	0.23409	Actin-binding FH2/DRF autoregulatory (1);	0.646841	0.14096	N	0.341720	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.31998	-0.9923	9	.	.	.	.	4.7911	0.13248	0.6823:0.0:0.1004:0.2173	.	838	Q9NZ56	FMN2_HUMAN	R	838	ENSP00000318884:Q838R	.	Q	+	2	0	FMN2	238437248	0.869000	0.29996	0.867000	0.34043	0.631000	0.37964	1.440000	0.35024	0.732000	0.32470	0.454000	0.30748	CAA		0.547	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		G	240370625	A	G	240370625	3	3	177	1	0	0	0	0	1	0	0	0	5952	130	5	3	2531	3	FMN2	1	240370625	Missense_Mutation	SNP	A	TCGA-B0-5088-01A-01D-1462-08	4476413	240370625	8879996	8	10245											
KIAA1841	84542	broad.mit.edu	37	2	61336340	61336340	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:61336340G>C	ENST00000402291.1	+	16	1894	c.1653G>C	c.(1651-1653)caG>caC	p.Q551H	KIAA1841_ENST00000295031.5_Missense_Mutation_p.Q551H|KIAA1841_ENST00000356719.2_Missense_Mutation_p.Q551H|KIAA1841_ENST00000453873.1_Missense_Mutation_p.Q551H	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	551								p.Q551H(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGAAACAACAGTCACTGTTTT	0.269																																																2	Substitution - Missense(2)	kidney(2)											76	86	82					2																	61336340		2203	4298	6501	SO:0001583	missense	84542			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1653G>C	2.37:g.61336340G>C	ENSP00000385579:p.Gln551His		Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360763	0.61403	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.5	0.469	0.16741	.	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.71581	2.175	0.51767	D	0.999932	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.59295	-0.7481	10	0.72032	D	0.01	-13.6592	10.1832	0.42982	0.4347:0.0:0.5653:0.0	.	551;551	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	H	551	ENSP00000385579:Q551H;ENSP00000295031:Q551H;ENSP00000349154:Q551H;ENSP00000416795:Q551H	ENSP00000295031:Q551H	Q	+	3	2	KIAA1841	61189844	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.482000	0.45224	0.256000	0.21614	0.585000	0.79938	CAG		0.269	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		C	61336340	G	C	61336340	3	2	177	1	0	0	0	0	1	0	0	0	8263	1020	36	4	1707	4	KIAA1841	2	61336340	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08		61336340	181863033	9	10246											
NAGK	55577	broad.mit.edu;hgsc.bcm.edu	37	2	71299785	71299785	+	Missense_Mutation	SNP	A	A	G	rs560847516		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:71299785A>G	ENST00000244204.6	+	5	432	c.370A>G	c.(370-372)Ata>Gta	p.I124V	NAGK_ENST00000418807.3_Missense_Mutation_p.I73V|NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000443872.2_5'UTR|NAGK_ENST00000443938.2_Missense_Mutation_p.I124V|NAGK_ENST00000455662.2_Missense_Mutation_p.I170V			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	124					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)	p.I124V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	AGTTGTGCTCATATCTGGAAC	0.577																																																1	Substitution - Missense(1)	kidney(1)											57	50	53					2																	71299785		2203	4300	6503	SO:0001583	missense	55577			AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.370A>G	2.37:g.71299785A>G	ENSP00000244204:p.Ile124Val		B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37		.	.	.	.	.	.	.	.	.	.	A	18.08	3.543074	0.65198	.	.	ENSG00000124357	ENST00000244204;ENST00000455662;ENST00000418807;ENST00000529236	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.44	4.29	0.51040	ATPase, BadF/BadG/BcrA/BcrD type (1);	0.050580	0.85682	D	0.000000	T	0.64382	0.2593	M	0.76002	2.32	0.58432	D	0.999999	D	0.69078	0.997	D	0.79108	0.992	T	0.63037	-0.6726	10	0.41790	T	0.15	-31.4071	9.2559	0.37584	0.9144:0.0:0.0856:0.0	.	124	Q9UJ70	NAGK_HUMAN	V	124;170;73;18	ENSP00000244204:I124V;ENSP00000389087:I170V;ENSP00000396070:I73V;ENSP00000431204:I18V	ENSP00000244204:I124V	I	+	1	0	NAGK	71153293	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	8.792000	0.91856	0.912000	0.36772	0.379000	0.24179	ATA		0.577	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			G	71299785	A	G	71299785	3	3	177	1	0	0	0	0	1	0	0	0	10144	217	8	3	526	3	NAGK	2	71299785	Missense_Mutation	SNP	A	TCGA-B0-5088-01A-01D-1462-08	9963445	71299785	171899588	10	10247											
CCNT2	905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	135711411	135711411	+	Silent	SNP	A	A	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:135711411A>G	ENST00000264157.5	+	9	1416	c.1386A>G	c.(1384-1386)gaA>gaG	p.E462E	CCNT2_ENST00000537343.1_Silent_p.E287E|CCNT2_ENST00000295238.6_Silent_p.E462E	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	462					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E462E(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CCCAGGTAGAACAGCAGCACA	0.383																																																1	Substitution - coding silent(1)	kidney(1)											51	53	52					2																	135711411		2203	4300	6503	SO:0001819	synonymous_variant	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1386A>G	2.37:g.135711411A>G			A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Silent	SNP	ENST00000264157.5	37	CCDS2174.1																																																																																				0.383	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		G	135711411	A	G	135711411	2	3	177	1	0	0	0	0	0	0	0	1	2937	40	2	3		3	CCNT2	2	135711411	Silent	SNP	A	TCGA-B0-5088-01A-01D-1462-08	64411626	135711411	107487962	11	10248											
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141773379	141773379	+	Silent	SNP	T	T	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:141773379T>G	ENST00000389484.3	-	13	3047	c.2076A>C	c.(2074-2076)tcA>tcC	p.S692S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	692					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S692S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGCATCTTTGAAGTCACAA	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - coding silent(1)	kidney(1)											138	134	135					2																	141773379		2203	4300	6503	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2076A>C	2.37:g.141773379T>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141773379	T	G	141773379	2	3	177	1	0	0	0	0	0	0	0	1	8957	1799	63	5		5	LRP1B	2	141773379	Silent	SNP	T	TCGA-B0-5088-01A-01D-1462-08	6061968	141773379	101425994	12	10249											
KBTBD10	10324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170371427	170371427	+	Silent	SNP	A	A	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:170371427A>T	ENST00000284669.1	+	3	1409	c.1332A>T	c.(1330-1332)tcA>tcT	p.S444S	RP11-724O16.1_ENST00000513963.1_Silent_p.S382S|BBS5_ENST00000554017.1_Silent_p.S382S|KLHL41_ENST00000463400.1_3'UTR	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	444					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)		p.S444S(1)									ATGTGATTTCACATAAAGGGA	0.338																																																1	Substitution - coding silent(1)	kidney(1)											72	76	75					2																	170371427		2203	4300	6503	SO:0001819	synonymous_variant	0			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1332A>T	2.37:g.170371427A>T			Q53R42	Silent	SNP	ENST00000284669.1	37	CCDS2234.1																																																																																				0.338	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		T	170371427	A	T	170371427	2	4	177	1	0	0	0	0	0	0	0	1	7992	146	6	5		5	KBTBD10	2	170371427	Silent	SNP	A	TCGA-B0-5088-01A-01D-1462-08	28598048	170371427	72827946	13	10250											
OSBPL6	114880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179253841	179253841	+	Silent	SNP	C	C	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:179253841C>G	ENST00000190611.4	+	21	2638	c.2262C>G	c.(2260-2262)acC>acG	p.T754T	OSBPL6_ENST00000409631.1_Silent_p.T718T|OSBPL6_ENST00000392505.2_Silent_p.T779T|OSBPL6_ENST00000359685.3_Silent_p.T718T|OSBPL6_ENST00000315022.2_Silent_p.T758T|OSBPL6_ENST00000409045.3_Silent_p.T723T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	754					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.T779T(1)|p.T754T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCAGAAATACCAAAAGCAGTG	0.343																																																2	Substitution - coding silent(2)	kidney(2)											123	106	112					2																	179253841		2203	4300	6503	SO:0001819	synonymous_variant	114880			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2262C>G	2.37:g.179253841C>G			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	CCDS2277.1																																																																																				0.343	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		G	179253841	C	G	179253841	2	3	177	1	0	0	0	0	0	0	0	1	11283	581	21	4		4	OSBPL6	2	179253841	Silent	SNP	C	TCGA-B0-5088-01A-01D-1462-08	8882414	179253841	63945532	14	10251											
VIL1	7429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219296898	219296898	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:219296898G>A	ENST00000248444.5	+	12	1421	c.1333G>A	c.(1333-1335)Gtt>Att	p.V445I	VIL1_ENST00000392114.2_Missense_Mutation_p.V134I	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	445	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.V445I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCTCTACGTTTGGCAGGT	0.572																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											63	48	53					2																	219296898		2203	4300	6503	SO:0001583	missense	7429			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1333G>A	2.37:g.219296898G>A	ENSP00000248444:p.Val445Ile		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	0.704	-0.789587	0.02884	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.56275	0.47;0.47	5.06	2.51	0.30379	Gelsolin domain (1);	0.145729	0.45361	N	0.000371	T	0.13970	0.0338	N	0.00254	-1.765	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06679	-1.0813	10	0.10377	T	0.69	-20.7769	7.6321	0.28245	0.7858:0.1398:0.0744:0.0	.	445	P09327	VILI_HUMAN	I	445;134	ENSP00000248444:V445I;ENSP00000375962:V134I	ENSP00000248444:V445I	V	+	1	0	VIL1	219005142	1.000000	0.71417	0.999000	0.59377	0.201000	0.24016	2.981000	0.49329	0.781000	0.33589	-0.427000	0.05922	GTT		0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		A	219296898	G	A	219296898	3	1	177	1	0	0	0	0	1	0	0	0	17169	1145	40	1	1375	1	VIL1	2	219296898	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08	40043057	219296898	23902475	15	10252											
CHL1	10752	broad.mit.edu;hgsc.bcm.edu	37	3	391066	391066	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:391066C>A	ENST00000256509.2	+	10	1515	c.873C>A	c.(871-873)aaC>aaA	p.N291K	CHL1_ENST00000397491.2_Missense_Mutation_p.N275K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.N291K(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGATTGGAACAAAATTGGTG	0.338																																																1	Substitution - Missense(1)	kidney(1)											57	57	57					3																	391066		2203	4300	6503	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.873C>A	3.37:g.391066C>A	ENSP00000256509:p.Asn291Lys		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	C	1.273	-0.612599	0.03690	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.27890	1.64;1.64	5.46	-4.62	0.03370	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.864266	0.10563	N	0.660062	T	0.07503	0.0189	N	0.01576	-0.805	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.24297	-1.0164	10	0.30078	T	0.28	.	0.9954	0.01465	0.3889:0.245:0.1711:0.195	.	275;275;291	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	K	291;275	ENSP00000256509:N291K;ENSP00000380628:N275K	ENSP00000256509:N291K	N	+	3	2	CHL1	366066	0.000000	0.05858	0.065000	0.19835	0.939000	0.58152	-1.122000	0.03267	-0.477000	0.06832	-0.284000	0.09977	AAC		0.338	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		A	391066	C	A	391066	3	1	177	1	0	0	0	0	1	0	0	0	3351	477	17	4	903	4	CHL1	3	391066	Missense_Mutation	SNP	C	TCGA-B0-5088-01A-01D-1462-08		391066	197631364	16	10253											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188240	10188240	+	Missense_Mutation	SNP	T	T	A	rs5030649		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:10188240T>A	ENST00000256474.2	+	2	1223	c.383T>A	c.(382-384)cTt>cAt	p.L128H	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	128	Involved in binding to CCT complex.		L -> F (in VHLD; type II).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L128H(4)|p.L128P(4)|p.L128R(2)|p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACGATGGGCTTCTGGTTAAC	0.488		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Substitution - Missense(10)|Deletion - Frameshift(1)	kidney(11)	GRCh37	CM040270	VHL	M							204	188	194					3																	10188240		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.383T>A	3.37:g.10188240T>A	ENSP00000256474:p.Leu128His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697069	0.48202	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99848	-7.14	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.070012	0.64402	D	0.000019	D	0.99739	0.9897	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97011	0.9736	10	0.87932	D	0	-11.7092	13.0887	0.59156	0.0:0.0:0.0:1.0	.	128	P40337	VHL_HUMAN	H	128;46	ENSP00000256474:L128H	ENSP00000256474:L128H	L	+	2	0	VHL	10163240	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	5.965000	0.70387	2.047000	0.60756	0.460000	0.39030	CTT		0.488	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10188240	T	A	10188240	3	1	177	1	0	0	0	0	1	0	0	0	17167	1609	56	5	389	5	VHL	3	10188240	Missense_Mutation	SNP	T	TCGA-B0-5088-01A-01D-1462-08	9797174	10188240	187834190	17	10254											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443866	52443866	+	5'Flank	SNP	C	C	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:52443866C>G	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Missense_Mutation_p.S10T|PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.S10T	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.S10T(1)|p.E7_S10delELES(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACCTGGGTCGCTCTCCAGCTC	0.746																																																2	Substitution - Missense(1)|Deletion - In frame(1)	kidney(2)											24	30	28					3																	52443866		2203	4298	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443866C>G	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240770	0.95240	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.62232	0.04;0.04	4.93	4.93	0.64822	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.000000	0.85682	D	0.000000	D	0.85948	0.5816	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90874	0.4748	10	0.87932	D	0	-4.1481	15.9287	0.79644	0.0:1.0:0.0:0.0	.	10	Q92560	BAP1_HUMAN	T	10	ENSP00000417132:S10T;ENSP00000296288:S10T	ENSP00000296288:S10T	S	-	2	0	BAP1	52418906	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.832000	0.62759	2.289000	0.77006	0.561000	0.74099	AGC		0.746	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		G	52443866	C	G	52443866	1	3	177	0	1	0	0	0	0	0	0	0	1311	797	28	4		4	BAP1	3	52443866	5'Flank	SNP	C	TCGA-B0-5088-01A-01D-1462-08	42255626	52443866	145578564	18	10255											
ATXN7	6314	hgsc.bcm.edu;ucsc.edu	37	3	63973813	63973813	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:63973813delA	ENST00000295900.6	+	9	1724	c.1174delA	c.(1174-1176)aaafs	p.K392fs	ATXN7_ENST00000398590.3_Frame_Shift_Del_p.K392fs|ATXN7_ENST00000484332.1_Frame_Shift_Del_p.K247fs|ATXN7_ENST00000487717.1_Frame_Shift_Del_p.K392fs|ATXN7_ENST00000538065.1_Frame_Shift_Del_p.K392fs	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	392	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCACAAAAACAAAACCAGGGA	0.517																																																0													158	170	166					3																	63973813		1952	4141	6093	SO:0001589	frameshift_variant	6314			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1174delA	3.37:g.63973813delA	ENSP00000295900:p.Lys392fs		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Frame_Shift_Del	DEL	ENST00000295900.6	37	CCDS43102.1																																																																																				0.517	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		-	63973813	A	-	63973813	7	5	177	1	0	1	0	1	0	0	0	0	1215	131	5	0	1268	0	ATXN7	3	63973813	Frame_Shift_Del	DEL	A	TCGA-B0-5088-01A-01D-1462-08	11529947	63973813	134048617	19	10256											
OR5H15	403274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	97887843	97887843	+	Silent	SNP	A	A	G	rs377659479	byFrequency	TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:97887843A>G	ENST00000356526.2	+	1	300	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCAAGATACAATTTTTTTCCA	0.383																																																1	Substitution - coding silent(1)	kidney(1)											160	152	155					3																	97887843		2203	4298	6501	SO:0001819	synonymous_variant	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.300A>G	3.37:g.97887843A>G				Silent	SNP	ENST00000356526.2	37	CCDS33799.1																																																																																				0.383	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			G	97887843	A	G	97887843	2	3	177	1	0	0	0	0	0	0	0	1	11163	98	4	3		3	OR5H15	3	97887843	Silent	SNP	A	TCGA-B0-5088-01A-01D-1462-08	33914030	97887843	100134587	20	10257											
EEFSEC	60678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128060617	128060618	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:128060617_128060618GG>CT	ENST00000254730.6	+	5	1382_1383	c.1328_1329GG>CT	c.(1327-1329)cGG>cCT	p.R443P	EEFSEC_ENST00000483457.1_Missense_Mutation_p.R388P|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	443					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.R443>?(1)|p.R443R(1)|p.R443P(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AACACGTGCCGGCTAGCCTTCC	0.604																																																3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	60678				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	Exception_encountered	3.37:g.128060617_128060618delinsCT	ENSP00000254730:p.Arg443Pro		Q96HZ6	Missense_Mutation|Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																				0.604	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		CT	128060618	GG	CT	128060617	3	2	177	1	0	0	0	0	1	0	0	0	4933	1116	39	4	1346	4	EEFSEC	3	128060617	Missense_Mutation	DNP	GG	TCGA-B0-5088-01A-01D-1462-08	30172774	128060617	69961813	21	10258											
SLITRK3	22865	broad.mit.edu;hgsc.bcm.edu	37	3	164907318	164907318	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:164907318A>G	ENST00000475390.1	-	2	1744	c.1301T>C	c.(1300-1302)tTg>tCg	p.L434S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L434S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	434					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L434S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAAGAGATCCAAGGAAGAAAA	0.408										HNSCC(40;0.11)																																						1	Substitution - Missense(1)	kidney(1)											46	48	47					3																	164907318		2203	4300	6503	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1301T>C	3.37:g.164907318A>G	ENSP00000420091:p.Leu434Ser		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233446	0.58886	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	D;D	0.82711	-1.64;-1.64	5.58	5.58	0.84498	.	0.000000	0.30723	N	0.009007	D	0.94974	0.8374	H	0.98786	4.33	0.53005	D	0.999967	D	0.76494	0.999	D	0.87578	0.998	D	0.96953	0.9696	10	0.87932	D	0	-9.9568	15.5903	0.76523	1.0:0.0:0.0:0.0	.	434	O94933	SLIK3_HUMAN	S	434	ENSP00000420091:L434S;ENSP00000241274:L434S	ENSP00000241274:L434S	L	-	2	0	SLITRK3	166390012	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.139000	0.94554	2.343000	0.79666	0.533000	0.62120	TTG		0.408	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		G	164907318	A	G	164907318	3	3	177	1	0	0	0	0	1	0	0	0	14750	131	5	3	1636	3	SLITRK3	3	164907318	Missense_Mutation	SNP	A	TCGA-B0-5088-01A-01D-1462-08	36846701	164907318	33115112	22	10259											
IGF2BP2	10644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	185393190	185393190	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:185393190T>A	ENST00000382199.2	-	9	1060	c.965A>T	c.(964-966)gAa>gTa	p.E322V	IGF2BP2_ENST00000421047.2_Missense_Mutation_p.E265V|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.E328V|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.E322V|IGF2BP2_ENST00000494906.1_5'UTR	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	322	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.E322V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GATGGTTCTTTCCGGGTTGTA	0.403																																																1	Substitution - Missense(1)	kidney(1)											88	84	85					3																	185393190		2203	4300	6503	SO:0001583	missense	10644			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.965A>T	3.37:g.185393190T>A	ENSP00000371634:p.Glu322Val		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845514	0.91197	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.34	5.34	0.76211	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.91635	0.996;0.997;0.997;0.997;0.96;0.999	T	0.80852	-0.1197	10	0.52906	T	0.07	-14.7629	14.591	0.68365	0.0:0.0:0.0:1.0	.	259;259;265;328;322;322	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	V	322;265;328;322	ENSP00000371634:E322V;ENSP00000413787:E265V;ENSP00000410242:E328V;ENSP00000320204:E322V	ENSP00000320204:E322V	E	-	2	0	IGF2BP2	186875884	1.000000	0.71417	0.933000	0.37362	0.977000	0.68977	7.909000	0.87444	2.143000	0.66587	0.260000	0.18958	GAA		0.403	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		A	185393190	T	A	185393190	3	1	177	1	0	0	0	0	1	0	0	0	7576	1783	62	5	866	5	IGF2BP2	3	185393190	Missense_Mutation	SNP	T	TCGA-B0-5088-01A-01D-1462-08	20485872	185393190	12629240	23	10260											
SLIT2	9353	broad.mit.edu	37	4	20490577	20490577	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr4:20490577G>A	ENST00000504154.1	+	8	999	c.747G>A	c.(745-747)gaG>gaA	p.E249E	SLIT2_ENST00000273739.5_Silent_p.E249E|SLIT2_ENST00000503837.1_Silent_p.E249E|SLIT2_ENST00000503823.1_Silent_p.E249E	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	249	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.E249E(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGTAGCCGAGGTTCAAAAAC	0.502																																																1	Substitution - coding silent(1)	kidney(1)											158	152	154					4																	20490577		2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.747G>A	4.37:g.20490577G>A			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																				0.502	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			A	20490577	G	A	20490577	2	1	177	1	0	0	0	0	0	0	0	1	14746	991	35	2		2	SLIT2	4	20490577	Silent	SNP	G	TCGA-B0-5088-01A-01D-1462-08		20490577	170663699	24	10261											
PCDHA11	56138	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140248769	140248769	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr5:140248769G>A	ENST00000398640.2	+	1	81	c.81G>A	c.(79-81)ggG>ggA	p.G27G	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	27					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G27G(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGGTGGGGAGCGGCCAGC	0.622																																																1	Substitution - coding silent(1)	kidney(1)											65	76	72					5																	140248769		2202	4300	6502	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.81G>A	5.37:g.140248769G>A			B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																				0.622	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		A	140248769	G	A	140248769	2	1	177	1	0	0	0	0	0	0	0	1	11523	1161	41	2		2	PCDHA11	5	140248769	Silent	SNP	G	TCGA-B0-5088-01A-01D-1462-08		140248769	40666491	25	10262											
C6orf142	90523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	54095578	54095578	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr6:54095578G>T	ENST00000274897.5	+	11	1293	c.1180G>T	c.(1180-1182)Gct>Tct	p.A394S	MLIP_ENST00000502396.1_Missense_Mutation_p.A929S|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	394						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.A394S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTATCCTCCTGCTAAGTCACT	0.498																																																1	Substitution - Missense(1)	kidney(1)											312	284	293					6																	54095578		2203	4300	6503	SO:0001583	missense	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1180G>T	6.37:g.54095578G>T	ENSP00000274897:p.Ala394Ser		B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132944	0.77662	.	.	ENSG00000146147	ENST00000274897;ENST00000502396;ENST00000514433	T;T;T	0.23147	2.25;1.92;1.93	5.59	5.59	0.84812	.	0.335168	0.24485	N	0.038103	T	0.29945	0.0749	L	0.44542	1.39	0.80722	D	1	D;D	0.60160	0.987;0.974	P;P	0.61328	0.887;0.754	T	0.00885	-1.1527	10	0.41790	T	0.15	.	15.1015	0.72279	0.0:0.0:1.0:0.0	.	929;394	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	S	394;929;323	ENSP00000274897:A394S;ENSP00000426290:A929S;ENSP00000421444:A323S	ENSP00000274897:A394S	A	+	1	0	MLIP	54203537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.868000	0.56055	2.622000	0.88805	0.650000	0.86243	GCT		0.498	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		T	54095578	G	T	54095578	3	4	177	1	0	0	0	0	1	0	0	0	2335	1319	46	4	1222	4	C6orf142	6	54095578	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08		54095578	117019489	26	10263											
GFRAL	389400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	55214903	55214903	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr6:55214903G>T	ENST00000340465.2	+	4	416	c.330G>T	c.(328-330)gaG>gaT	p.E110D		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	110					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E110D(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACGTGAAAGAGGATAAATTCA	0.289																																																1	Substitution - Missense(1)	kidney(1)											76	74	75					6																	55214903		2201	4297	6498	SO:0001583	missense	389400			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.330G>T	6.37:g.55214903G>T	ENSP00000343636:p.Glu110Asp		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	G	2.751	-0.260129	0.05791	.	.	ENSG00000187871	ENST00000340465	T	0.32272	1.46	4.56	0.516	0.17019	.	2.614030	0.01553	N	0.019774	T	0.11067	0.0270	L	0.51422	1.61	0.09310	N	1	B	0.28233	0.204	B	0.26310	0.068	T	0.15150	-1.0447	10	0.40728	T	0.16	-19.5185	4.433	0.11536	0.2928:0.1648:0.5425:0.0	.	110	Q6UXV0	GFRAL_HUMAN	D	110	ENSP00000343636:E110D	ENSP00000343636:E110D	E	+	3	2	GFRAL	55322862	0.191000	0.23288	0.001000	0.08648	0.006000	0.05464	0.062000	0.14389	-0.144000	0.11314	0.655000	0.94253	GAG		0.289	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		T	55214903	G	T	55214903	3	4	177	1	0	0	0	0	1	0	0	0	6353	991	35	4	344	4	GFRAL	6	55214903	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08	1119325	55214903	115900164	27	10264											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56399926	56399926	+	Silent	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr6:56399926T>C	ENST00000361203.3	-	59	16309	c.16302A>G	c.(16300-16302)gaA>gaG	p.E5434E	DST_ENST00000446842.2_Silent_p.E5110E|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.E3022E|DST_ENST00000370769.4_Silent_p.E5436E|DST_ENST00000370754.5_Silent_p.E5614E|DST_ENST00000370788.2_Silent_p.E3348E|DST_ENST00000421834.2_Silent_p.E3348E|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5434					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E5436E(1)|p.E3022E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTACCTTTTGTTCTTGTATCT	0.408																																																2	Substitution - coding silent(2)	kidney(2)											166	167	167					6																	56399926		1861	4113	5974	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16302A>G	6.37:g.56399926T>C			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																					0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		C	56399926	T	C	56399926	2	2	177	1	0	0	0	0	0	0	0	1	4785	1722	60	3		3	DST	6	56399926	Silent	SNP	T	TCGA-B0-5088-01A-01D-1462-08	1185023	56399926	114715141	28	10265											
SLC22A16	85413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	110763747	110763747	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr6:110763747G>T	ENST00000368919.3	-	4	949	c.883C>A	c.(883-885)Ctt>Att	p.L295I	RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000330550.4_Missense_Mutation_p.L261I|SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.L295I	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	295					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.L295I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TCTGAGAGAAGCCAAAAAGGT	0.473																																																1	Substitution - Missense(1)	kidney(1)											98	98	98					6																	110763747		2203	4300	6503	SO:0001583	missense	85413				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.883C>A	6.37:g.110763747G>T	ENSP00000357915:p.Leu295Ile		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976911	0.74360	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	4.78	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.95093	0.8223	10	0.72032	D	0.01	.	18.1444	0.89651	0.0:0.0:1.0:0.0	.	295;261	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	I	295;212;261;295;125;252	ENSP00000357915:L295I;ENSP00000395642:L212I;ENSP00000328583:L261I;ENSP00000408799:L295I;ENSP00000409306:L125I;ENSP00000416310:L252I	ENSP00000328583:L261I	L	-	1	0	SLC22A16	110870440	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.555000	0.60767	2.346000	0.79739	0.655000	0.94253	CTT		0.473	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		T	110763747	G	T	110763747	3	4	177	1	0	0	0	0	1	0	0	0	14453	971	34	4	870	4	SLC22A16	6	110763747	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08	54363821	110763747	60351320	29	10266											
ZNF789	285989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99084910	99084910	+	Silent	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr7:99084910T>C	ENST00000331410.5	+	5	1347	c.1077T>C	c.(1075-1077)caT>caC	p.H359H	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H359H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCATTCAGCATCAAAGAATCC	0.398																																																1	Substitution - coding silent(1)	kidney(1)											127	122	124					7																	99084910		2203	4300	6503	SO:0001819	synonymous_variant	285989			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.1077T>C	7.37:g.99084910T>C			A4D282|A6NH61|Q6ZMZ9	Silent	SNP	ENST00000331410.5	37	CCDS34693.1																																																																																				0.398	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		C	99084910	T	C	99084910	2	2	177	1	0	0	0	0	0	0	0	1	18165	1432	50	3		3	ZNF789	7	99084910	Silent	SNP	T	TCGA-B0-5088-01A-01D-1462-08		99084910	60053753	30	10267											
STAG3	10734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99811404	99811404	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr7:99811404T>C	ENST00000426455.1	+	33	4051	c.3644T>C	c.(3643-3645)tTa>tCa	p.L1215S	GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.L1157S|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.L1215S|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1215					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.L1215S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGACCTCTTAGATTCTACA	0.488																																																1	Substitution - Missense(1)	kidney(1)											122	115	117					7																	99811404		2203	4300	6503	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3644T>C	7.37:g.99811404T>C	ENSP00000400359:p.Leu1215Ser		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	t	20.2	3.941779	0.73557	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.0	5.0	0.66597	.	0.000000	0.30791	N	0.008863	T	0.42765	0.1217	L	0.60455	1.87	0.80722	D	1	P;P;P	0.52316	0.917;0.952;0.952	P;P;P	0.49140	0.502;0.601;0.601	T	0.43556	-0.9384	10	0.87932	D	0	-8.0025	11.2685	0.49124	0.0:0.0:0.0:1.0	.	1157;1216;1215	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	S	1215;1157;878;236;1215;174	ENSP00000400359:L1215S;ENSP00000377586:L1157S;ENSP00000319318:L1215S;ENSP00000395039:L174S	ENSP00000319318:L1215S	L	+	2	0	STAG3	99649340	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	3.235000	0.51328	2.212000	0.71576	0.533000	0.62120	TTA		0.488	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		C	99811404	T	C	99811404	3	2	177	1	0	0	0	0	1	0	0	0	15249	1764	61	3	3770	3	STAG3	7	99811404	Missense_Mutation	SNP	T	TCGA-B0-5088-01A-01D-1462-08	726494	99811404	59327259	31	10268											
FLNC	2318	broad.mit.edu;hgsc.bcm.edu	37	7	128494133	128494133	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr7:128494133G>A	ENST00000325888.8	+	40	6851	c.6590G>A	c.(6589-6591)cGg>cAg	p.R2197Q	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2164Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2197	Intradomain insert; mediate targeting to Z lines.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.R2197Q(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGCAAGACGCGGGGCGGGGAG	0.682																																																1	Substitution - Missense(1)	kidney(1)											20	25	23					7																	128494133		2065	4189	6254	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6590G>A	7.37:g.128494133G>A	ENSP00000327145:p.Arg2197Gln		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332753	0.41297	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85339	-1.97;-1.96	5.64	5.64	0.86602	.	0.068404	0.64402	D	0.000013	T	0.70159	0.3192	N	0.08118	0	0.42372	D	0.992459	P;P	0.50710	0.938;0.913	B;B	0.36289	0.221;0.208	T	0.75091	-0.3440	10	0.35671	T	0.21	.	17.1975	0.86897	0.0:0.0:1.0:0.0	.	2164;2197	Q14315-2;Q14315	.;FLNC_HUMAN	Q	2197;2164	ENSP00000327145:R2197Q;ENSP00000344002:R2164Q	ENSP00000327145:R2197Q	R	+	2	0	FLNC	128281369	1.000000	0.71417	0.613000	0.29037	0.948000	0.59901	6.448000	0.73469	2.655000	0.90218	0.655000	0.94253	CGG		0.682	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			A	128494133	G	A	128494133	3	1	177	1	0	0	0	0	1	0	0	0	5937	1116	39	1	6748	1	FLNC	7	128494133	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08	28682729	128494133	30644530	32	10269											
PRKAG2	51422	hgsc.bcm.edu;ucsc.edu	37	7	151265857	151265862	+	In_Frame_Del	DEL	CCACTG	CCACTG	-			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	CCACTG	CCACTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr7:151265857_151265862delCCACTG	ENST00000287878.4	-	11	1677_1682	c.1173_1178delCAGTGG	c.(1171-1179)atcagtggg>atg	p.391_393ISG>M	PRKAG2_ENST00000418337.2_In_Frame_Del_p.150_152ISG>M|PRKAG2_ENST00000492843.1_In_Frame_Del_p.267_269ISG>M|PRKAG2_ENST00000433631.2_In_Frame_Del_p.266_268ISG>M|PRKAG2_ENST00000392801.2_In_Frame_Del_p.347_349ISG>M	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	391	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	AAGTGCATTCCCACTGATAGGGTCAA	0.374																																																0																																										SO:0001651	inframe_deletion	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1173_1178delCAGTGG	7.37:g.151265857_151265862delCCACTG	ENSP00000287878:p.Ile391_Gly393delinsMet		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	In_Frame_Del	DEL	ENST00000287878.4	37	CCDS5928.1																																																																																				0.374	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		-	151265862	CCACTG	-	151265857	7	5	177	1	0	1	0	1	0	0	0	0	12506	623	22	0	555	0	PRKAG2	7	151265857	In_Frame_Del	DEL	CCACTG	TCGA-B0-5088-01A-01D-1462-08	22771724	151265857	7872806	33	10270											
GPR172A	79581	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145584463	145584463	+	Splice_Site	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr8:145584463G>A	ENST00000532887.1	+	5	1709	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	SLC52A2_ENST00000402965.1_Splice_Site_p.V376M|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000530047.1_Splice_Site_p.V376M|SLC52A2_ENST00000526752.1_Splice_Site_p.G44D|SLC52A2_ENST00000527078.1_Splice_Site_p.V376M|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000329994.2_Splice_Site_p.V376M|SLC52A2_ENST00000540505.1_Splice_Site_p.V288M			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	376					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)	p.V376M(1)								Gamma Hydroxybutyric Acid(DB01440)	TCCCCCTCAGGTGCTGTCGTG	0.672																																																1	Substitution - Missense(1)	kidney(1)											104	80	88					8																	145584463		2203	4299	6502	SO:0001630	splice_region_variant	0			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1126-1G>A	8.37:g.145584463G>A			A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	CCDS6423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.16|18.16	3.562964|3.562964	0.65538|0.65538	.|.	.|.	ENSG00000185803|ENSG00000185803	ENST00000526752|ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T|D;D;D;D;D;D	0.77750|0.83591	-1.12|-1.74;-1.74;-1.74;-1.74;-1.74;-1.57	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.393280	.|0.25714	.|N	.|0.028793	D|D	0.89248|0.89248	0.6661|0.6661	M|M	0.78916|0.78916	2.43|2.43	0.54753|0.54753	D|D	0.999983|0.999983	.|D	.|0.89917	.|1.0	.|D	.|0.75020	.|0.985	D|D	0.89121|0.89121	0.3503|0.3503	6|9	.|.	.|.	.|.	.|.	9.1467|9.1467	0.36937|0.36937	0.1:0.0:0.9:0.0|0.1:0.0:0.9:0.0	.|.	.|376	.|Q9HAB3	.|RFT3_HUMAN	D|M	44|376;376;376;376;376;288	ENSP00000433796:G44D|ENSP00000435820:V376M;ENSP00000434728:V376M;ENSP00000385961:V376M;ENSP00000436768:V376M;ENSP00000333638:V376M;ENSP00000440400:V288M	.|.	G|V	+|+	2|1	0|0	GPR172A|GPR172A	145555271|145555271	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.927000|0.927000	0.56198|0.56198	3.843000|3.843000	0.55865|0.55865	2.230000|2.230000	0.72887|0.72887	0.462000|0.462000	0.41574|0.41574	GGT|GTG		0.672	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531	Missense_Mutation	A	145584463	G	A	145584463	5	1	177	1	0	0	0	0	0	0	1	0	6671	1275	44	2	1140	2	GPR172A	8	145584463	Splice_Site	SNP	G	TCGA-B0-5088-01A-01D-1462-08		145584463	779559	34	10271											
PPP1R16A	84988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145722670	145722670	+	Silent	SNP	C	C	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr8:145722670C>T	ENST00000292539.4	+	2	1010	c.93C>T	c.(91-93)gcC>gcT	p.A31A	CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.A31A|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000529009.1_3'UTR			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	31						plasma membrane (GO:0005886)		p.A31A(1)		NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCGGCGCGCCCAGCAGGTGA	0.682																																																1	Substitution - coding silent(1)	kidney(1)											35	32	33					8																	145722670		2195	4298	6493	SO:0001819	synonymous_variant	84988				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.93C>T	8.37:g.145722670C>T			D3DWM5	Silent	SNP	ENST00000292539.4	37	CCDS6429.1																																																																																				0.682	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		T	145722670	C	T	145722670	2	4	177	1	0	0	0	0	0	0	0	1	12370	610	22	2		2	PPP1R16A	8	145722670	Silent	SNP	C	TCGA-B0-5088-01A-01D-1462-08	138207	145722670	641352	35	10272											
KCNV2	169522	broad.mit.edu;hgsc.bcm.edu	37	9	2718197	2718197	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr9:2718197G>A	ENST00000382082.3	+	1	696	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	153					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R153H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TTCTTCGACCGCGACCCGGCC	0.652																																																1	Substitution - Missense(1)	kidney(1)											25	22	23					9																	2718197		2202	4300	6502	SO:0001583	missense	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.458G>A	9.37:g.2718197G>A	ENSP00000371514:p.Arg153His		Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351617	0.82132	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.90261	-2.64	5.07	4.15	0.48705	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	H	0.95402	3.665	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.97695	1.0181	10	0.87932	D	0	.	15.3544	0.74415	0.0:0.1403:0.8597:0.0	.	153	Q8TDN2	KCNV2_HUMAN	H	153	ENSP00000371514:R153H	ENSP00000371514:R153H	R	+	2	0	KCNV2	2708197	1.000000	0.71417	0.820000	0.32676	0.986000	0.74619	9.869000	0.99810	1.095000	0.41419	0.462000	0.41574	CGC		0.652	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		A	2718197	G	A	2718197	3	1	177	1	0	0	0	0	1	0	0	0	8097	1087	38	1	460	1	KCNV2	9	2718197	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08		2718197	138495234	36	10273											
MEGF9	1955	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123384993	123384993	+	Missense_Mutation	SNP	T	T	C	rs201374644		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr9:123384993T>C	ENST00000373930.3	-	3	955	c.844A>G	c.(844-846)Ata>Gta	p.I282V	MEGF9_ENST00000426959.1_Missense_Mutation_p.I319V	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	282	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)		p.I319V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CGGTCACATATAGAGCCAATG	0.413																																																1	Substitution - Missense(1)	kidney(1)											123	117	119					9																	123384993		1950	4157	6107	SO:0001583	missense	1955			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.844A>G	9.37:g.123384993T>C	ENSP00000363040:p.Ile282Val		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	T	11.24	1.580210	0.28180	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.61040	0.14;0.14	6.17	-0.603	0.11630	.	0.419713	0.24409	N	0.038776	T	0.27134	0.0665	N	0.04508	-0.205	0.09310	N	0.999997	B	0.06786	0.001	B	0.11329	0.006	T	0.10567	-1.0624	10	0.56958	D	0.05	3.4573	3.065	0.06212	0.407:0.0642:0.1099:0.4188	.	319	C9J1K8	.	V	282;319	ENSP00000363040:I282V;ENSP00000392666:I319V	ENSP00000363040:I282V	I	-	1	0	MEGF9	122424814	0.963000	0.33076	0.518000	0.27811	0.863000	0.49368	0.455000	0.21843	-0.336000	0.08438	-0.438000	0.05819	ATA		0.413	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		C	123384993	T	C	123384993	3	2	177	1	0	0	0	0	1	0	0	0	9466	1406	49	3	980	3	MEGF9	9	123384993	Missense_Mutation	SNP	T	TCGA-B0-5088-01A-01D-1462-08	120666796	123384993	17828438	37	10274											
C9orf114	51490	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131586388	131586388	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr9:131586388C>A	ENST00000361256.5	-	10	917	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	293							poly(A) RNA binding (GO:0044822)	p.G293C(1)		kidney(2)|large_intestine(4)|ovary(1)	7						ACATCTGAGCCGCGCTCTGAC	0.647																																																1	Substitution - Missense(1)	kidney(1)											43	39	40					9																	131586388		2203	4300	6503	SO:0001583	missense	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.877G>T	9.37:g.131586388C>A	ENSP00000354812:p.Gly293Cys		Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	CCDS6913.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.714009	0.68730	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.39997	1.05	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73923	0.3649	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78560	-0.2157	10	0.87932	D	0	-7.8325	19.5674	0.95401	0.0:1.0:0.0:0.0	.	292;293	E7ESY7;Q5T280	.;CI114_HUMAN	C	293;292	ENSP00000354812:G293C	ENSP00000354812:G293C	G	-	1	0	C9orf114	130626209	1.000000	0.71417	0.982000	0.44146	0.072000	0.16883	7.157000	0.77461	2.873000	0.98535	0.561000	0.74099	GGC		0.647	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390		A	131586388	C	A	131586388	3	1	177	1	0	0	0	0	1	0	0	0	2451	652	23	4	265	4	C9orf114	9	131586388	Missense_Mutation	SNP	C	TCGA-B0-5088-01A-01D-1462-08	8201395	131586388	9627043	38	10275											
YME1L1	10730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	27437878	27437878	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr10:27437878T>C	ENST00000326799.3	-	2	273	c.125A>G	c.(124-126)cAg>cGg	p.Q42R	YME1L1_ENST00000375972.3_Missense_Mutation_p.Q42R|YME1L1_ENST00000376016.3_Missense_Mutation_p.Q42R|YME1L1_ENST00000477432.1_Missense_Mutation_p.Q42R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	42					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Q42R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATCTCGATGCTGGTTTTGAGA	0.423																																																1	Substitution - Missense(1)	kidney(1)											207	206	206					10																	27437878		2203	4300	6503	SO:0001583	missense	10730			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.125A>G	10.37:g.27437878T>C	ENSP00000318480:p.Gln42Arg		B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347332	0.24426	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.92699	-3.05;-3.09;-3.03	5.49	4.31	0.51392	Peptidase M41, FtsH (1);	0.966706	0.08606	N	0.920779	D	0.86539	0.5957	N	0.14661	0.345	0.29770	N	0.834858	B;P;B;B	0.43352	0.001;0.804;0.0;0.001	B;P;B;B	0.45946	0.004;0.498;0.0;0.002	T	0.80303	-0.1439	10	0.40728	T	0.16	-0.9431	6.3226	0.21227	0.2567:0.0:0.1173:0.626	.	42;42;42;42	B4DNM1;Q6PJ89;Q96TA2-2;Q96TA2	.;.;.;YMEL1_HUMAN	R	42;42;42;42;42;34	ENSP00000365184:Q42R;ENSP00000318480:Q42R;ENSP00000365139:Q42R	ENSP00000318480:Q42R	Q	-	2	0	YME1L1	27477884	0.982000	0.34865	1.000000	0.80357	0.846000	0.48090	2.273000	0.43381	2.086000	0.62901	0.533000	0.62120	CAG		0.423	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		C	27437878	T	C	27437878	3	2	177	1	0	0	0	0	1	0	0	0	17492	1580	55	3	2272	3	YME1L1	10	27437878	Missense_Mutation	SNP	T	TCGA-B0-5088-01A-01D-1462-08		27437878	108096869	39	10276											
PAPSS2	9060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	89473886	89473886	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr10:89473886A>G	ENST00000361175.4	+	4	836	c.467A>G	c.(466-468)gAa>gGa	p.E156G	PAPSS2_ENST00000456849.1_Missense_Mutation_p.E156G|PAPSS2_ENST00000427144.2_Missense_Mutation_p.E160G	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	156					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.E156G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AATATTTGTGAAAGCAGAGAC	0.423																																																1	Substitution - Missense(1)	kidney(1)											101	110	107					10																	89473886		2203	4300	6503	SO:0001583	missense	9060			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.467A>G	10.37:g.89473886A>G	ENSP00000354436:p.Glu156Gly		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.026581	0.93518	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.77489	-1.1;-1.1;-1.1	5.9	5.9	0.94986	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94135	0.8119	H	0.99851	4.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	D	0.96942	0.9688	10	0.87932	D	0	-31.795	16.3317	0.83023	1.0:0.0:0.0:0.0	.	156;156	O95340;O95340-2	PAPS2_HUMAN;.	G	156;156;160;155	ENSP00000354436:E156G;ENSP00000406157:E156G;ENSP00000397123:E160G	ENSP00000354436:E156G	E	+	2	0	PAPSS2	89463866	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.962000	0.93254	2.264000	0.75181	0.533000	0.62120	GAA		0.423	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			G	89473886	A	G	89473886	3	3	177	1	0	0	0	0	1	0	0	0	11437	246	9	3	481	3	PAPSS2	10	89473886	Missense_Mutation	SNP	A	TCGA-B0-5088-01A-01D-1462-08	62036008	89473886	46060861	40	10277											
NSMCE4A	54780	hgsc.bcm.edu;ucsc.edu	37	10	123730567	123730569	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr10:123730567_123730569delCTT	ENST00000369023.3	-	3	437_439	c.386_388delAAG	c.(385-390)gaagca>gca	p.E129del	NSMCE4A_ENST00000538652.1_5'UTR|NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000369017.5_In_Frame_Del_p.E129del	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	129					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TCCAGGACTGCTTCTCTTGCTCG	0.399																																																0																																										SO:0001651	inframe_deletion	54780			AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"chromosome 10 open reading frame 86"	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.386_388delAAG	10.37:g.123730567_123730569delCTT	ENSP00000358019:p.Glu129del		Q5SQQ5|Q6P673|Q8WY66|Q9BS90	In_Frame_Del	DEL	ENST00000369023.3	37	CCDS7624.1																																																																																				0.399	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050749.1	NM_017615		-	123730569	CTT	-	123730567	7	5	177	1	0	1	0	1	0	0	0	0	10679	797	28	0	801	0	NSMCE4A	10	123730567	In_Frame_Del	DEL	CTT	TCGA-B0-5088-01A-01D-1462-08	34256681	123730567	11804180	41	10278											
CTBP2	1488	broad.mit.edu;hgsc.bcm.edu	37	10	126683133	126683133	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr10:126683133G>A	ENST00000337195.5	-	7	1084	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	CTBP2_ENST00000411419.2_Silent_p.L229L|CTBP2_ENST00000531469.1_Silent_p.L229L|CTBP2_ENST00000309035.6_Silent_p.L769L|CTBP2_ENST00000334808.6_Silent_p.L297L|CTBP2_ENST00000494626.2_Silent_p.L229L	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	229					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)	p.L769L(1)|p.L229L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AAATCCTGCAGGGTGTAGACC	0.507																																																2	Substitution - coding silent(2)	kidney(2)											85	79	81					10																	126683133		2203	4300	6503	SO:0001819	synonymous_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.685C>T	10.37:g.126683133G>A			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	CCDS7643.1																																																																																				0.507	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		A	126683133	G	A	126683133	2	1	177	1	0	0	0	0	0	0	0	1	4000	991	35	2		2	CTBP2	10	126683133	Silent	SNP	G	TCGA-B0-5088-01A-01D-1462-08	2952566	126683133	8851614	42	10279											
SPRYD5	84767	broad.mit.edu;ucsc.edu	37	11	55653066	55653066	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr11:55653066A>T	ENST00000449290.2	+	2	254	c.162A>T	c.(160-162)gaA>gaT	p.E54D	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	54						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E54D(1)									AGTGCTCTGAATGCAAGAAGA	0.502																																																1	Substitution - Missense(1)	kidney(1)											47	39	41					11																	55653066		692	1591	2283	SO:0001583	missense	0			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.162A>T	11.37:g.55653066A>T	ENSP00000395086:p.Glu54Asp		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	5.821	0.335810	0.11013	.	.	ENSG00000124900	ENST00000449290	T	0.08896	3.04	0.803	0.803	0.18691	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.06462	0.0166	L	0.43646	1.37	0.28345	N	0.921156	B	0.27013	0.166	B	0.25759	0.063	T	0.33266	-0.9875	9	0.33141	T	0.24	.	2.8746	0.05627	0.6803:0.0:0.3197:0.0	.	54	Q9BSJ1	SPRY5_HUMAN	D	54	ENSP00000395086:E54D	ENSP00000395086:E54D	E	+	3	2	SPRYD5	55409642	0.599000	0.26891	0.012000	0.15200	0.040000	0.13550	0.359000	0.20233	0.624000	0.30286	0.128000	0.15822	GAA		0.502	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		T	55653066	A	T	55653066	3	4	177	1	0	0	0	0	1	0	0	0	15116	98	4	5	164	5	SPRYD5	11	55653066	Missense_Mutation	SNP	A	TCGA-B0-5088-01A-01D-1462-08		55653066	79353450	43	10280											
EXPH5	23086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108382192	108382192	+	Missense_Mutation	SNP	C	C	G	rs375346460		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr11:108382192C>G	ENST00000265843.4	-	6	4152	c.4042G>C	c.(4042-4044)Gct>Cct	p.A1348P	EXPH5_ENST00000525344.1_Missense_Mutation_p.A1341P|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.A1160P|EXPH5_ENST00000428840.1_Missense_Mutation_p.A1272P	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1348					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.A1348P(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCAACAGAAGCCATTTCCTGT	0.418																																																1	Substitution - Missense(1)	kidney(1)											42	46	45					11																	108382192		2198	4297	6495	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4042G>C	11.37:g.108382192C>G	ENSP00000265843:p.Ala1348Pro		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010874	0.35511	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.05513	4.19;4.12;3.97;4.19;4.04;3.43	5.76	3.85	0.44370	.	0.845353	0.10611	N	0.654478	T	0.17959	0.0431	M	0.65975	2.015	0.09310	N	1	D	0.67145	0.996	D	0.65010	0.931	T	0.15122	-1.0448	10	0.42905	T	0.14	-3.8669	5.3526	0.16043	0.1385:0.6321:0.1511:0.0782	.	1348	Q8NEV8	EXPH5_HUMAN	P	1348;1272;1160;1341;1272;1160	ENSP00000265843:A1348P;ENSP00000391966:A1272P;ENSP00000411390:A1160P;ENSP00000432546:A1341P;ENSP00000432683:A1272P;ENSP00000446434:A1160P	ENSP00000265843:A1348P	A	-	1	0	EXPH5	107887402	0.000000	0.05858	0.131000	0.22000	0.045000	0.14185	-0.084000	0.11268	0.740000	0.32651	0.591000	0.81541	GCT		0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		G	108382192	C	G	108382192	3	3	177	1	0	0	0	0	1	0	0	0	5324	739	26	4	1931	4	EXPH5	11	108382192	Missense_Mutation	SNP	C	TCGA-B0-5088-01A-01D-1462-08	52729126	108382192	26624324	44	10281											
ABCC9	10060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21960403	21960403	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr12:21960403G>A	ENST00000261201.4	-	36	4325	c.4326C>T	c.(4324-4326)gtC>gtT	p.V1442V	ABCC9_ENST00000345162.2_Silent_p.V1406V|ABCC9_ENST00000261200.4_Silent_p.V1442V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1442	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.V1442V(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CACCTTCAGTGACAACCGCAT	0.398																																																2	Substitution - coding silent(2)	kidney(2)											105	95	98					12																	21960403		2203	4300	6503	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4326C>T	12.37:g.21960403G>A			O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		A	21960403	G	A	21960403	2	1	177	1	0	0	0	0	0	0	0	1	59	1277	45	2		2	ABCC9	12	21960403	Silent	SNP	G	TCGA-B0-5088-01A-01D-1462-08		21960403	111891492	45	10282											
TBC1D15	64786	broad.mit.edu;hgsc.bcm.edu	37	12	72274276	72274276	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr12:72274276C>G	ENST00000550746.1	+	4	296	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	TBC1D15_ENST00000319106.8_Missense_Mutation_p.Q86E|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.Q78E	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	78					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.Q86E(1)|p.Q78E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGAATGGACTCAGGCCCCAAA	0.328																																																2	Substitution - Missense(2)	kidney(2)											38	34	36					12																	72274276		2203	4300	6503	SO:0001583	missense	64786			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.232C>G	12.37:g.72274276C>G	ENSP00000448182:p.Gln78Glu		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027305	0.35797	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	T;T;T	0.05580	3.43;3.42;3.42	5.92	5.92	0.95590	Domain of unknown function DUF3548 (1);	0.173092	0.52532	D	0.000074	T	0.06826	0.0174	N	0.24115	0.695	0.80722	D	1	B;B;B	0.31752	0.336;0.338;0.017	B;B;B	0.39531	0.302;0.276;0.022	T	0.09975	-1.0650	10	0.02654	T	1	-8.6834	18.4977	0.90870	0.0:1.0:0.0:0.0	.	86;78;78	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	E	78;86;78	ENSP00000448182:Q78E;ENSP00000318262:Q86E;ENSP00000420678:Q78E	ENSP00000318262:Q86E	Q	+	1	0	TBC1D15	70560543	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.558000	0.73942	2.801000	0.96364	0.650000	0.86243	CAG		0.328	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		G	72274276	C	G	72274276	3	3	177	1	0	0	0	0	1	0	0	0	15609	827	29	4	370	4	TBC1D15	12	72274276	Missense_Mutation	SNP	C	TCGA-B0-5088-01A-01D-1462-08	50313873	72274276	61577619	46	10283											
NOS1	4842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117768660	117768660	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr12:117768660A>G	ENST00000338101.4	-	1	219	c.215T>C	c.(214-216)tTg>tCg	p.L72S	NOS1_ENST00000344089.3_Missense_Mutation_p.L72S|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000317775.6_Missense_Mutation_p.L72S			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.L72S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CAGGTCCACCAAGGGCCGGCC	0.622																																					Esophageal Squamous(162;1748 2599 51982 52956)											1	Substitution - Missense(1)	kidney(1)											38	42	41					12																	117768660		1990	4144	6134	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.215T>C	12.37:g.117768660A>G	ENSP00000337459:p.Leu72Ser			Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568900	0.86439	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.33438	1.41;1.41;1.41	4.89	4.89	0.63831	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.56863	0.2014	M	0.77406	2.37	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.63051	-0.6723	10	0.87932	D	0	-20.6539	14.7048	0.69183	1.0:0.0:0.0:0.0	.	72	P29475	NOS1_HUMAN	S	72	ENSP00000320758:L72S;ENSP00000339862:L72S;ENSP00000337459:L72S	ENSP00000320758:L72S	L	-	2	0	NOS1	116253043	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	8.728000	0.91484	2.060000	0.61445	0.449000	0.29647	TTG		0.622	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			G	117768660	A	G	117768660	3	3	177	1	0	0	0	0	1	0	0	0	10543	131	5	3	4201	3	NOS1	12	117768660	Missense_Mutation	SNP	A	TCGA-B0-5088-01A-01D-1462-08	45494384	117768660	16083235	47	10284											
KIAA0564	23078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42361642	42361642	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr13:42361642T>G	ENST00000379310.3	-	18	2169	c.2101A>C	c.(2101-2103)Aat>Cat	p.N701H	VWA8_ENST00000281496.6_Missense_Mutation_p.N701H	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	701						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.N701H(1)									TCTGCCAGATTTTTTTCTAAT	0.373																																																1	Substitution - Missense(1)	kidney(1)											66	70	69					13																	42361642		2203	4298	6501	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2101A>C	13.37:g.42361642T>G	ENSP00000368612:p.Asn701His		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849383	0.71603	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.11821	2.93;2.74	5.13	5.13	0.70059	.	0.156705	0.56097	D	0.000038	T	0.25195	0.0612	L	0.57536	1.79	0.45914	D	0.998752	P	0.50819	0.939	P	0.52554	0.702	T	0.00742	-1.1585	10	0.45353	T	0.12	.	14.2213	0.65828	0.0:0.0:0.0:1.0	.	701	A3KMH1	K0564_HUMAN	H	605;701;701	ENSP00000368612:N701H;ENSP00000281496:N701H	ENSP00000251030:N605H	N	-	1	0	KIAA0564	41259642	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.308000	0.65768	2.063000	0.61619	0.533000	0.62120	AAT		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		G	42361642	T	G	42361642	3	3	177	1	0	0	0	0	1	0	0	0	8187	1841	64	5	3732	5	KIAA0564	13	42361642	Missense_Mutation	SNP	T	TCGA-B0-5088-01A-01D-1462-08		42361642	72808236	48	10285											
DACT1	51339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59113096	59113096	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr14:59113096G>A	ENST00000335867.4	+	4	1779	c.1755G>A	c.(1753-1755)aaG>aaA	p.K585K	DACT1_ENST00000541264.2_Silent_p.K304K|DACT1_ENST00000556859.1_Silent_p.K304K|DACT1_ENST00000395153.3_Silent_p.K548K			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	585					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.K585K(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCAGCCTGAAGCACCGCGGCC	0.657																																																1	Substitution - coding silent(1)	kidney(1)											19	23	21					14																	59113096		2203	4300	6503	SO:0001819	synonymous_variant	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1755G>A	14.37:g.59113096G>A			A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	CCDS9736.1																																																																																				0.657	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		A	59113096	G	A	59113096	2	1	177	1	0	0	0	0	0	0	0	1	4224	962	34	2		2	DACT1	14	59113096	Silent	SNP	G	TCGA-B0-5088-01A-01D-1462-08		59113096	48236444	49	10286											
CCNB2	9133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59406998	59406998	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr15:59406998G>A	ENST00000288207.2	+	5	711	c.520G>A	c.(520-522)Gta>Ata	p.V174I	CCNB2_ENST00000559622.1_Missense_Mutation_p.V93I	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	174					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.V174I(1)		kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						GGATTGGCTGGTACAAGTCCA	0.458																																																1	Substitution - Missense(1)	kidney(1)											195	183	187					15																	59406998		2191	4291	6482	SO:0001583	missense	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.520G>A	15.37:g.59406998G>A	ENSP00000288207:p.Val174Ile		B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371567	0.61624	.	.	ENSG00000157456	ENST00000288207	T	0.11277	2.79	5.54	5.54	0.83059	Cyclin, N-terminal (2);Cyclin-like (3);	0.056803	0.64402	D	0.000001	T	0.11495	0.0280	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.34161	0.439;0.276	B;B	0.37387	0.181;0.248	T	0.17107	-1.0380	10	0.33141	T	0.24	.	18.4665	0.90757	0.0:0.0:1.0:0.0	.	174;174	Q53HG9;O95067	.;CCNB2_HUMAN	I	174	ENSP00000288207:V174I	ENSP00000288207:V174I	V	+	1	0	CCNB2	57194290	1.000000	0.71417	0.987000	0.45799	0.821000	0.46438	3.706000	0.54830	2.601000	0.87937	0.655000	0.94253	GTA		0.458	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		A	59406998	G	A	59406998	3	1	177	1	0	0	0	0	1	0	0	0	2915	1261	44	2	538	2	CCNB2	15	59406998	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08		59406998	43124394	50	10287											
ARIH1	25820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72848195	72848195	+	Silent	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr15:72848195T>C	ENST00000379887.4	+	5	998	c.684T>C	c.(682-684)acT>acC	p.T228T		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	228	Interaction with UBE2L3.				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T228T(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TTTTTCAGACTATTTCGTGTC	0.343																																																1	Substitution - coding silent(1)	kidney(1)											243	215	224					15																	72848195		2197	4296	6493	SO:0001819	synonymous_variant	25820			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.684T>C	15.37:g.72848195T>C			B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Silent	SNP	ENST00000379887.4	37	CCDS10244.1																																																																																				0.343	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		C	72848195	T	C	72848195	2	2	177	1	0	0	0	0	0	0	0	1	923	1509	53	3		3	ARIH1	15	72848195	Silent	SNP	T	TCGA-B0-5088-01A-01D-1462-08	13441197	72848195	29683197	51	10288											
SIN3A	25942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75682103	75682103	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr15:75682103C>A	ENST00000394947.3	-	16	3225	c.2911G>T	c.(2911-2913)Gat>Tat	p.D971Y	SIN3A_ENST00000360439.4_Missense_Mutation_p.D971Y|SIN3A_ENST00000394949.4_Missense_Mutation_p.D971Y	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.D971Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATGTTGCCATCCAGCAGGCTC	0.468																																																1	Substitution - Missense(1)	kidney(1)											192	157	169					15																	75682103		2197	4294	6491	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2911G>T	15.37:g.75682103C>A	ENSP00000378402:p.Asp971Tyr			Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969010	0.92855	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.52983	0.64;0.64;0.64	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.79193	-0.1904	10	0.87932	D	0	-24.6198	18.9999	0.92829	0.0:1.0:0.0:0.0	.	971	Q96ST3	SIN3A_HUMAN	Y	971	ENSP00000378402:D971Y;ENSP00000378403:D971Y;ENSP00000353622:D971Y	ENSP00000353622:D971Y	D	-	1	0	SIN3A	73469156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.758000	0.85224	2.742000	0.94016	0.650000	0.86243	GAT		0.468	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		A	75682103	C	A	75682103	3	1	177	1	0	0	0	0	1	0	0	0	14331	855	30	4	934	4	SIN3A	15	75682103	Missense_Mutation	SNP	C	TCGA-B0-5088-01A-01D-1462-08	2833908	75682103	26849289	52	10289											
CNTNAP1	8506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40848118	40848118	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr17:40848118G>C	ENST00000264638.4	+	20	3639	c.3422G>C	c.(3421-3423)gGc>gCc	p.G1141A	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1141	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.G1141A(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTGACCGATGGCCAGCCCCAT	0.537																																																1	Substitution - Missense(1)	kidney(1)											168	137	147					17																	40848118		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3422G>C	17.37:g.40848118G>C	ENSP00000264638:p.Gly1141Ala			Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550817	0.65311	.	.	ENSG00000108797	ENST00000264638	D	0.84442	-1.85	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	D	0.93259	0.7852	M	0.83118	2.625	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.93440	0.6793	10	0.66056	D	0.02	.	19.7629	0.96329	0.0:0.0:1.0:0.0	.	1141	P78357	CNTP1_HUMAN	A	1141	ENSP00000264638:G1141A	ENSP00000264638:G1141A	G	+	2	0	CNTNAP1	38101644	1.000000	0.71417	0.990000	0.47175	0.066000	0.16364	8.502000	0.90505	2.666000	0.90696	0.561000	0.74099	GGC		0.537	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		C	40848118	G	C	40848118	3	2	177	1	0	0	0	0	1	0	0	0	3648	1203	42	4	3500	4	CNTNAP1	17	40848118	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08		40848118	40347092	53	10290											
COL1A1	1277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48272628	48272628	+	Missense_Mutation	SNP	C	C	T	rs72648328		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr17:48272628C>T	ENST00000225964.5	-	19	1382	c.1264G>A	c.(1264-1266)Ggc>Agc	p.G422S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	422	Triple-helical region.		G -> C (in OI2). {ECO:0000269|Ref.45}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G422S(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CCGCCGGGGCCCTGGGGTCCA	0.672			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM930142	COL1A1	M	rs72648328						28	35	33					17																	48272628		2202	4299	6501	SO:0001583	missense	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1264G>A	17.37:g.48272628C>T	ENSP00000225964:p.Gly422Ser		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923017	0.92319	.	.	ENSG00000108821	ENST00000225964	D	0.99329	-5.75	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97717	1.0194	10	0.87932	D	0	.	18.8953	0.92421	0.0:1.0:0.0:0.0	.	422	P02452	CO1A1_HUMAN	S	422	ENSP00000225964:G422S	ENSP00000225964:G422S	G	-	1	0	COL1A1	45627627	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.047000	0.71038	2.764000	0.94973	0.557000	0.71058	GGC		0.672	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			T	48272628	C	T	48272628	3	4	177	1	0	0	0	0	1	0	0	0	3679	623	22	2	3262	2	COL1A1	17	48272628	Missense_Mutation	SNP	C	TCGA-B0-5088-01A-01D-1462-08	7424510	48272628	32922582	54	10291											
CACNG5	27091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	64875148	64875148	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr17:64875148G>A	ENST00000533854.1	+	3	492	c.255G>A	c.(253-255)ctG>ctA	p.L85L	CACNG5_ENST00000169565.3_Silent_p.L85L|CACNG5_ENST00000307139.3_Silent_p.L85L			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	85					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.L85L(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ACACCCAGCTGACATCCGAGT	0.532																																																2	Substitution - coding silent(2)	kidney(2)											128	109	115					17																	64875148		2203	4300	6503	SO:0001819	synonymous_variant	27091			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.255G>A	17.37:g.64875148G>A			A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	ENST00000533854.1	37	CCDS11665.1																																																																																				0.532	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		A	64875148	G	A	64875148	2	1	177	1	0	0	0	0	0	0	0	1	2562	1277	45	2		2	CACNG5	17	64875148	Silent	SNP	G	TCGA-B0-5088-01A-01D-1462-08	16602520	64875148	16320062	55	10292											
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	7009293	7009293	+	Missense_Mutation	SNP	C	C	T	rs149753863	byFrequency	TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr18:7009293C>T	ENST00000389658.3	-	27	4039	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1316	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.D1316N(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TACTCAATATCGCTGAGGACA	0.363													C|||	2	0.000399361	0.0	0.0	5008	,	,		17251	0.0		0.002	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	ASN/ASP	5,4401	9.9+/-24.2	0,5,2198	138	132	134		3946	3.8	0.9	18	dbSNP_134	134	22,8578	16.6+/-54.9	0,22,4278	yes	missense	LAMA1	NM_005559.3	23	0,27,6476	TT,TC,CC		0.2558,0.1135,0.2076	benign	1316/3076	7009293	27,12979	2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3946G>A	18.37:g.7009293C>T	ENSP00000374309:p.Asp1316Asn			Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.427	-0.905241	0.02453	0.001135	0.002558	ENSG00000101680	ENST00000389658	T	0.33438	1.41	6.15	3.77	0.43336	Laminin B type IV (2);Laminin B, subgroup (1);	0.097504	0.64402	N	0.000002	T	0.09202	0.0227	N	0.01209	-0.955	0.28282	N	0.923954	B	0.02656	0.0	B	0.04013	0.001	T	0.34229	-0.9837	10	0.02654	T	1	.	10.8201	0.46599	0.0:0.1275:0.0:0.8725	.	1316	P25391	LAMA1_HUMAN	N	1316	ENSP00000374309:D1316N	ENSP00000374309:D1316N	D	-	1	0	LAMA1	6999293	1.000000	0.71417	0.913000	0.36048	0.255000	0.26057	3.045000	0.49838	0.558000	0.29135	-0.255000	0.11280	GAT		0.363	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7009293	C	T	7009293	3	4	177	1	0	0	0	0	1	0	0	0	8607	884	31	1	5429	1	LAMA1	18	7009293	Missense_Mutation	SNP	C	TCGA-B0-5088-01A-01D-1462-08		7009293	71067955	56	10293											
MAPK4	5596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	48190332	48190332	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr18:48190332G>A	ENST00000400384.2	+	2	1040	c.4G>A	c.(4-6)Gct>Act	p.A2T	MAPK4_ENST00000588540.1_Missense_Mutation_p.A2T|MAPK4_ENST00000592595.1_Missense_Mutation_p.A2T|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	2					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.A2T(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCCCACAATGGCTGAGAAGGG	0.587																																																1	Substitution - Missense(1)	kidney(1)											78	81	80					18																	48190332		2071	4200	6271	SO:0001583	missense	5596			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.4G>A	18.37:g.48190332G>A	ENSP00000383234:p.Ala2Thr		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125072	0.77436	.	.	ENSG00000141639	ENST00000400384	T	0.76448	-1.02	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000005	D	0.86285	0.5896	L	0.53249	1.67	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86654	0.1900	10	0.66056	D	0.02	-12.4769	18.5255	0.90971	0.0:0.0:1.0:0.0	.	2;2	Q0VG04;P31152	.;MK04_HUMAN	T	2	ENSP00000383234:A2T	ENSP00000383234:A2T	A	+	1	0	MAPK4	46444330	1.000000	0.71417	0.998000	0.56505	0.237000	0.25408	9.318000	0.96334	2.674000	0.91012	0.561000	0.74099	GCT		0.587	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		A	48190332	G	A	48190332	3	1	177	1	0	0	0	0	1	0	0	0	9282	1203	42	2	6	2	MAPK4	18	48190332	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08	41181039	48190332	29886916	57	10294											
USHBP1	83878	broad.mit.edu	37	19	17370531	17370531	+	Missense_Mutation	SNP	G	G	T	rs150046287	byFrequency	TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr19:17370531G>T	ENST00000252597.3	-	6	952	c.779C>A	c.(778-780)tCc>tAc	p.S260Y	USHBP1_ENST00000598570.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.S196Y	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.S260Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GTGAGCCAGGGAGAAGGAGTC	0.557																																																1	Substitution - Missense(1)	kidney(1)											65	69	68					19																	17370531		2203	4300	6503	SO:0001583	missense	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.779C>A	19.37:g.17370531G>T	ENSP00000252597:p.Ser260Tyr			Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108569	0.37242	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.22945	1.94;1.93	4.7	4.7	0.59300	.	0.372510	0.23327	N	0.049382	T	0.33818	0.0876	L	0.34521	1.04	0.09310	N	1	B;D;P	0.67145	0.39;0.996;0.845	B;P;B	0.57371	0.069;0.819;0.445	T	0.09185	-1.0686	10	0.62326	D	0.03	-6.7995	13.8493	0.63487	0.0:0.0:1.0:0.0	.	196;260;260	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	Y	260;196;260	ENSP00000252597:S260Y;ENSP00000407902:S196Y	ENSP00000252597:S260Y	S	-	2	0	USHBP1	17231531	0.004000	0.15560	0.009000	0.14445	0.441000	0.31987	1.440000	0.35024	2.545000	0.85829	0.655000	0.94253	TCC		0.557	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		T	17370531	G	T	17370531	3	4	177	1	0	0	0	0	1	0	0	0	17042	1174	41	4	1364	4	USHBP1	19	17370531	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08		17370531	41758452	58	10295											
ATP1A3	478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42482093	42482093	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr19:42482093G>C	ENST00000302102.5	-	14	2088	c.1938C>G	c.(1936-1938)aaC>aaG	p.N646K	ATP1A3_ENST00000602133.1_Missense_Mutation_p.N616K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.N657K|ATP1A3_ENST00000545399.1_Missense_Mutation_p.N659K	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	646					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.N646K(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTCACCGGGGGTTAACCTGGC	0.647																																																1	Substitution - Missense(1)	kidney(1)											116	108	111					19																	42482093		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1938C>G	19.37:g.42482093G>C	ENSP00000302397:p.Asn646Lys		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401149	0.83120	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.94650	-3.37;-3.48;-3.38;-3.38	4.44	3.41	0.39046	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90222	0.6943	N	0.02751	-0.505	0.80722	D	1	B;B;P;B	0.37330	0.016;0.382;0.59;0.303	B;B;P;P	0.53760	0.12;0.434;0.734;0.569	D	0.89995	0.4110	10	0.66056	D	0.02	.	10.2182	0.43182	0.0997:0.0:0.9002:0.0	.	659;657;646;646	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	K	646;646;659;616;390;657	ENSP00000302397:N646K;ENSP00000411503:N646K;ENSP00000444688:N659K;ENSP00000437577:N657K	ENSP00000302397:N646K	N	-	3	2	ATP1A3	47173933	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.522000	0.73783	2.478000	0.83669	0.561000	0.74099	AAC		0.647	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		C	42482093	G	C	42482093	3	2	177	1	0	0	0	0	1	0	0	0	1130	1252	44	4	1143	4	ATP1A3	19	42482093	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08	25111562	42482093	16646890	59	10296											
KLK13	26085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51559929	51559929	+	Missense_Mutation	SNP	C	C	T	rs200569857		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr19:51559929C>T	ENST00000595793.1	-	5	791	c.749G>A	c.(748-750)cGt>cAt	p.R250H	KLK13_ENST00000335422.3_Missense_Mutation_p.R98H|KLK13_ENST00000595547.1_Missense_Mutation_p.R177H	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	250	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.R250H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TCTTGAGACACGGGTGTAGAC	0.512																																																1	Substitution - Missense(1)	kidney(1)											182	176	178					19																	51559929		2203	4300	6503	SO:0001583	missense	26085				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.749G>A	19.37:g.51559929C>T	ENSP00000470555:p.Arg250His		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254483	0.59212	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.94687	-3.49	4.49	3.44	0.39384	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41938	D	0.000800	D	0.95439	0.8519	M	0.64567	1.98	0.09310	N	0.999997	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.70227	0.961;0.968;0.953	D	0.88835	0.3308	10	0.87932	D	0	.	6.9482	0.24530	0.0:0.7933:0.0:0.2067	.	98;177;250	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	H	250;98	ENSP00000334079:R98H	ENSP00000156476:R250H	R	-	2	0	KLK13	56251741	0.003000	0.15002	0.210000	0.23637	0.219000	0.24729	1.049000	0.30392	1.249000	0.43950	0.650000	0.86243	CGT		0.512	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		T	51559929	C	T	51559929	3	4	177	1	0	0	0	0	1	0	0	0	8403	536	19	1	88	1	KLK13	19	51559929	Missense_Mutation	SNP	C	TCGA-B0-5088-01A-01D-1462-08	9077836	51559929	7569054	60	10297											
FAM83D	81610	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37580732	37580732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr20:37580732C>T	ENST00000217429.4	+	4	1458	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	443	Ser-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q473*(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GACCACTACTCAGACTGACAT	0.468																																																1	Substitution - Nonsense(1)	kidney(1)											117	115	116					20																	37580732		2101	4215	6316	SO:0001587	stop_gained	81610			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1417C>T	20.37:g.37580732C>T	ENSP00000217429:p.Gln473*		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Nonsense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877811	0.72294	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	.	.	.	5.49	5.49	0.81192	.	1.575260	0.03233	N	0.179266	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3536	0.94401	0.0:1.0:0.0:0.0	.	.	.	.	X	473;427	.	ENSP00000217429:Q473X	Q	+	1	0	FAM83D	37014146	0.998000	0.40836	1.000000	0.80357	0.340000	0.28889	4.021000	0.57196	2.733000	0.93635	0.655000	0.94253	CAG		0.468	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			T	37580732	C	T	37580732	4	4	177	1	0	0	0	0	0	1	0	0	5638	827	29	2	1431	2	FAM83D	20	37580732	Nonsense_Mutation	SNP	C	TCGA-B0-5088-01A-01D-1462-08		37580732	25444788	61	10298											
NRIP1	8204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	16338035	16338035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr21:16338035G>A	ENST00000400202.1	-	3	3191	c.2479C>T	c.(2479-2481)Caa>Taa	p.Q827*	NRIP1_ENST00000318948.4_Nonsense_Mutation_p.Q827*|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.Q827*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	827	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q827*(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TAACTATCTTGATTTTGTCTT	0.403																																																1	Substitution - Nonsense(1)	kidney(1)											72	78	76					21																	16338035		2200	4299	6499	SO:0001587	stop_gained	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2479C>T	21.37:g.16338035G>A	ENSP00000383063:p.Gln827*		Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	45	12.007173	0.99626	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	6.17	6.17	0.99709	.	0.471174	0.22440	N	0.060024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-3.9216	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	827	.	ENSP00000327213:Q827X	Q	-	1	0	NRIP1	15259906	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	6.820000	0.75267	2.941000	0.99782	0.655000	0.94253	CAA		0.403	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		A	16338035	G	A	16338035	4	1	177	1	0	0	0	0	0	1	0	0	10654	1299	45	2	1001	2	NRIP1	21	16338035	Nonsense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08		16338035	31791860	62	10299											
SYNJ1	8867	broad.mit.edu;hgsc.bcm.edu	37	21	34066598	34066598	+	Silent	SNP	A	A	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr21:34066598A>T	ENST00000322229.7	-	5	728	c.729T>A	c.(727-729)gtT>gtA	p.V243V	SYNJ1_ENST00000382491.3_Silent_p.V243V|SYNJ1_ENST00000382499.2_Silent_p.V282V|SYNJ1_ENST00000433931.2_Silent_p.V282V|SYNJ1_ENST00000357345.3_Silent_p.V243V			O43426	SYNJ1_HUMAN	synaptojanin 1	243	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.V243V(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGAAGGAAGAAACTGAGTCAT	0.318																																																1	Substitution - coding silent(1)	kidney(1)											63	61	61					21																	34066598		2203	4300	6503	SO:0001819	synonymous_variant	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.729T>A	21.37:g.34066598A>T			O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1																																																																																				0.318	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	34066598	A	T	34066598	2	4	177	1	0	0	0	0	0	0	0	1	15457	1	1	5		5	SYNJ1	21	34066598	Silent	SNP	A	TCGA-B0-5088-01A-01D-1462-08	17728563	34066598	14063297	63	10300											
ITGB2	3689	broad.mit.edu;ucsc.edu	37	21	46321408	46321408	+	Splice_Site	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr21:46321408G>A	ENST00000397850.2	-	7	1192	c.740C>T	c.(739-741)cCg>cTg	p.P247L	ITGB2_ENST00000355153.4_Splice_Site_p.P247L|ITGB2_ENST00000397852.1_Splice_Site_p.P247L|ITGB2_ENST00000397854.3_Splice_Site_p.P190L|ITGB2_ENST00000397857.1_Splice_Site_p.P247L|ITGB2_ENST00000302347.5_Splice_Site_p.P247L			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	247	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.P247L(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGGCCTCACCGGGCAGGCGGC	0.687																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001630	splice_region_variant	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.741+1C>T	21.37:g.46321408G>A			B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450650	0.26074	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	D;D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	4.1	0.86	0.19042	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	T	0.81356	0.4805	N	0.22421	0.69	0.31033	N	0.717162	B;B	0.10296	0.001;0.003	B;B	0.08055	0.002;0.003	T	0.69098	-0.5235	9	0.23891	T	0.37	.	1.1568	0.01797	0.2126:0.1578:0.4476:0.182	.	190;247	A8MYE6;P05107	.;ITB2_HUMAN	L	247;247;190;247;247;247;190;238	ENSP00000380950:P247L;ENSP00000380955:P247L;ENSP00000380952:P190L;ENSP00000347279:P247L;ENSP00000380948:P247L;ENSP00000303242:P247L;ENSP00000317697:P238L	ENSP00000303242:P247L	P	-	2	0	ITGB2	45145836	0.887000	0.30362	0.997000	0.53966	0.914000	0.54420	0.027000	0.13621	0.380000	0.24823	-0.226000	0.12346	CCG		0.687	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	Missense_Mutation	A	46321408	G	A	46321408	5	1	177	1	0	0	0	0	0	0	1	0	7896	1130	39	1	1613	1	ITGB2	21	46321408	Splice_Site	SNP	G	TCGA-B0-5088-01A-01D-1462-08	12254810	46321408	1808487	64	10301											
SCML1	6322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	17768309	17768309	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chrX:17768309G>T	ENST00000380041.3	+	6	927	c.599G>T	c.(598-600)gGt>gTt	p.G200V	SCML1_ENST00000380045.3_Missense_Mutation_p.G79V|SCML1_ENST00000380043.3_Missense_Mutation_p.G173V|SCML1_ENST00000398080.1_Missense_Mutation_p.G79V	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	200					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G79V(1)|p.G200V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					GCATCTGATGGTGCAACGTAT	0.542																																																2	Substitution - Missense(2)	kidney(2)											124	100	108					X																	17768309		2203	4300	6503	SO:0001583	missense	6322				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"Sterile alpha motif (SAM) domain containing"	10580	protein-coding gene	gene with protein product		300227	"sex comb on midleg (Drosophila)-like 1"			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.599G>T	X.37:g.17768309G>T	ENSP00000369380:p.Gly200Val		B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	ENST00000380041.3	37	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920994	0.33908	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080	.	.	.	3.51	1.03	0.20045	.	2.368570	0.01976	N	0.044461	T	0.16214	0.0390	N	0.14661	0.345	0.09310	N	1	P;P	0.45827	0.867;0.791	B;B	0.37508	0.252;0.128	T	0.10543	-1.0625	9	0.26408	T	0.33	-0.9745	2.8818	0.05649	0.5877:0.2605:0.1518:0.0	.	173;200	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	V	79;200;173;79	.	ENSP00000369380:G200V	G	+	2	0	SCML1	17678230	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.483000	0.22292	0.107000	0.17824	-0.340000	0.08031	GGT		0.542	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		T	17768309	G	T	17768309	3	4	177	1	0	0	0	0	1	0	0	0	13915	1261	44	4	620	4	SCML1	23	17768309	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08		17768309	137502251	65	10302											
RPGR	6103	broad.mit.edu;ucsc.edu	37	X	38182653	38182653	+	Splice_Site	SNP	G	G	A	rs201242851		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chrX:38182653G>A	ENST00000339363.3	-	2	320	c.153C>T	c.(151-153)acC>acT	p.T51T	RPGR_ENST00000338898.3_Splice_Site_p.T51T|RPGR_ENST00000378505.2_Splice_Site_p.T51T|RPGR_ENST00000342811.3_Splice_Site_p.T51T|RPGR_ENST00000318842.7_Splice_Site_p.T51T|RPGR_ENST00000309513.3_Splice_Site_p.T51T|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	51					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.T51T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AATACTAACCGGTAACAACAG	0.303																																																2	Substitution - coding silent(2)	kidney(2)						G	,	0,3833		0,0,0,1631,571	47	40	42		153,153	0.3	0.9	X		42	1,6725		0,0,1,2428,1869	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	RPGR	NM_000328.2,NM_001034853.1	,	0,0,1,4059,2440	AA,AG,A,GG,G		0.0149,0.0,0.0095	,	51/816,51/1153	38182653	1,10558	2202	4298	6500	SO:0001630	splice_region_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.154+1C>T	X.37:g.38182653G>A			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37																																																																																					0.303	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328	Silent	A	38182653	G	A	38182653	5	1	177	1	0	0	0	0	0	0	1	0	13554	1130	39	1	3920	1	RPGR	23	38182653	Splice_Site	SNP	G	TCGA-B0-5088-01A-01D-1462-08	20414344	38182653	117087907	66	10303											
ZNF711	7552	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	84510342	84510342	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chrX:84510342G>A	ENST00000373165.3	+	4	463	c.157G>A	c.(157-159)Gat>Aat	p.D53N	ZNF711_ENST00000276123.3_Missense_Mutation_p.D53N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D31N|ZNF711_ENST00000542798.1_5'Flank|ZNF711_ENST00000360700.4_Missense_Mutation_p.D53N	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	53					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.D33N(2)|p.D53N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTTAGTTTCTGATGTTGTCAC	0.413																																																3	Substitution - Missense(3)	kidney(2)|large_intestine(1)											232	179	197					X																	84510342		2203	4300	6503	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.157G>A	X.37:g.84510342G>A	ENSP00000362260:p.Asp53Asn		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565369	0.86439	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700	T;T;T;T	0.15017	2.73;2.46;2.46;2.7	4.94	4.94	0.65067	.	0.000000	0.45126	D	0.000394	T	0.34048	0.0884	L	0.44542	1.39	0.80722	D	1	D;P	0.67145	0.996;0.941	D;P	0.68039	0.955;0.515	T	0.04678	-1.0934	10	0.51188	T	0.08	-10.665	17.3849	0.87413	0.0:0.0:1.0:0.0	.	53;53	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	N	31;53;53;53	ENSP00000378798:D31N;ENSP00000362260:D53N;ENSP00000276123:D53N;ENSP00000353922:D53N	ENSP00000276123:D53N	D	+	1	0	ZNF711	84396998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.029000	0.59856	0.550000	0.68814	GAT		0.413	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		A	84510342	G	A	84510342	3	1	177	1	0	0	0	0	1	0	0	0	18121	1290	45	2	163	2	ZNF711	23	84510342	Missense_Mutation	SNP	G	TCGA-B0-5088-01A-01D-1462-08	46327689	84510342	70760218	67	10304											
AADACL4	343066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12711197	12711197	+	Missense_Mutation	SNP	T	T	C	rs199989547		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:12711197T>C	ENST00000376221.1	+	2	224	c.224T>C	c.(223-225)tTa>tCa	p.L75S		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	75						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.L75S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATTCGTTTTTTACATGATAGC	0.463																																																1	Substitution - Missense(1)	kidney(1)											97	96	97					1																	12711197		2203	4300	6503	SO:0001583	missense	343066				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.224T>C	1.37:g.12711197T>C	ENSP00000365395:p.Leu75Ser			Missense_Mutation	SNP	ENST00000376221.1	37	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647408	0.29246	.	.	ENSG00000204518	ENST00000376221	T	0.04917	3.53	5.03	3.9	0.45041	.	2.700480	0.02460	N	0.086455	T	0.11707	0.0285	L	0.59436	1.845	0.09310	N	1	B	0.23490	0.086	B	0.28553	0.091	T	0.40079	-0.9582	10	0.38643	T	0.18	0.2123	8.8017	0.34912	0.0:0.0913:0.0:0.9087	.	75	Q5VUY2	ADCL4_HUMAN	S	75	ENSP00000365395:L75S	ENSP00000365395:L75S	L	+	2	0	AADACL4	12633784	0.021000	0.18746	0.001000	0.08648	0.066000	0.16364	2.575000	0.46025	0.748000	0.32831	0.459000	0.35465	TTA		0.463	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		C	12711197	T	C	12711197	3	2	178	1	0	0	0	0	1	0	0	0	13	1764	61	3	230	3	AADACL4	1	12711197	Missense_Mutation	SNP	T	TCGA-B0-5092-01A-01D-1421-08		12711197	236539424	1	10305											
ABCD3	5825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94946103	94946103	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:94946103A>G	ENST00000370214.4	+	9	792	c.768A>G	c.(766-768)atA>atG	p.I256M	ABCD3_ENST00000394233.2_Missense_Mutation_p.I256M|ABCD3_ENST00000536817.1_Missense_Mutation_p.I183M|ABCD3_ENST00000454898.2_Missense_Mutation_p.I280M	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	256	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.I256M(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGATGACAATAACTGAGCAAA	0.388																																																1	Substitution - Missense(1)	kidney(1)											119	115	116					1																	94946103		2203	4300	6503	SO:0001583	missense	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.768A>G	1.37:g.94946103A>G	ENSP00000359233:p.Ile256Met		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	CCDS749.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.035705	0.35893	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.13	0.872	0.19113	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.166361	0.53938	D	0.000050	T	0.73799	0.3633	N	0.04959	-0.14	0.38906	D	0.957431	B;P;B	0.40050	0.001;0.7;0.04	B;B;B	0.38755	0.005;0.281;0.065	T	0.72727	-0.4206	10	0.56958	D	0.05	-16.0744	1.5923	0.02656	0.2074:0.1977:0.1033:0.4916	.	280;256;256	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	M	256;280;183;256	ENSP00000377780:I256M;ENSP00000403357:I280M;ENSP00000440692:I183M;ENSP00000359233:I256M	ENSP00000359233:I256M	I	+	3	3	ABCD3	94718691	0.970000	0.33590	1.000000	0.80357	0.982000	0.71751	0.068000	0.14531	0.310000	0.22990	0.528000	0.53228	ATA		0.388	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		G	94946103	A	G	94946103	3	3	178	1	0	0	0	0	1	0	0	0	62	352	13	3	833	3	ABCD3	1	94946103	Missense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08	82234906	94946103	154304518	2	10306											
DPYD	1806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	97564120	97564120	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:97564120C>T	ENST00000370192.3	-	21	2791	c.2691G>A	c.(2689-2691)ctG>ctA	p.L897L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	897					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.L897L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTTGTTCTTTCAGTCTAATCT	0.353																																																1	Substitution - coding silent(1)	kidney(1)											156	158	157					1																	97564120		2203	4300	6503	SO:0001819	synonymous_variant	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2691G>A	1.37:g.97564120C>T			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	CCDS30777.1																																																																																				0.353	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		T	97564120	C	T	97564120	2	4	178	1	0	0	0	0	0	0	0	1	4747	813	29	2		2	DPYD	1	97564120	Silent	SNP	C	TCGA-B0-5092-01A-01D-1421-08	2618017	97564120	151686501	3	10307											
KCNC4	3749	broad.mit.edu;hgsc.bcm.edu	37	1	110766481	110766481	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:110766481C>T	ENST00000369787.3	+	2	1601	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.P525L|KCNC4_ENST00000413138.3_Missense_Mutation_p.P525L	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	525					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P525L(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GATACCAGCCCCCCTGCCCGG	0.607																																																2	Substitution - Missense(2)	kidney(2)											50	57	55					1																	110766481		2203	4300	6503	SO:0001583	missense	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1574C>T	1.37:g.110766481C>T	ENSP00000358802:p.Pro525Leu		Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726885	0.48833	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97209	-4.27;-4.29;-4.29	5.04	4.13	0.48395	.	4.638030	0.00397	N	0.000053	D	0.91085	0.7194	L	0.29908	0.895	0.80722	D	1	B;B;B	0.27450	0.179;0.147;0.044	B;B;B	0.24848	0.039;0.056;0.03	T	0.65717	-0.6100	10	0.15066	T	0.55	.	14.9385	0.70975	0.1447:0.8553:0.0:0.0	.	525;525;525	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	L	525	ENSP00000358802:P525L;ENSP00000388029:P525L;ENSP00000393655:P525L	ENSP00000358802:P525L	P	+	2	0	KCNC4	110568004	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.096000	0.71446	1.268000	0.44264	-0.360000	0.07572	CCC		0.607	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		T	110766481	C	T	110766481	3	4	178	1	0	0	0	0	1	0	0	0	8019	623	22	2	1580	2	KCNC4	1	110766481	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	13202361	110766481	138484140	4	10308											
LRIG2	9860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113616152	113616152	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:113616152C>T	ENST00000361127.5	+	1	322	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F	RP11-31F15.2_ENST00000421157.1_lincRNA	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	42	LRRNT.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L42F(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CGGAGCAGGTCTCTGCCCCGC	0.662											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											95	109	104					1																	113616152		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.124C>T	1.37:g.113616152C>T	ENSP00000355396:p.Leu42Phe	1451	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	6.363	0.435013	0.12045	.	.	ENSG00000198799	ENST00000361127	T	0.61859	0.07	4.93	4.01	0.46588	.	0.391386	0.23491	N	0.047602	T	0.29126	0.0724	L	0.36672	1.1	0.23762	N	0.996919	B	0.26512	0.151	B	0.31812	0.136	T	0.15122	-1.0448	10	0.30854	T	0.27	.	11.1526	0.48469	0.0:0.8141:0.1859:0.0	.	42	O94898	LRIG2_HUMAN	F	42	ENSP00000355396:L42F	ENSP00000355396:L42F	L	+	1	0	LRIG2	113417675	0.552000	0.26505	0.170000	0.22879	0.040000	0.13550	1.802000	0.38853	1.287000	0.44583	0.563000	0.77884	CTC		0.662	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		T	113616152	C	T	113616152	3	4	178	1	0	0	0	0	1	0	0	0	8947	913	32	2	126	2	LRIG2	1	113616152	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	2849671	113616152	135634469	5	10309											
SELP	6403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169565278	169565278	+	Silent	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr1:169565278A>G	ENST00000263686.6	-	12	2023	c.1986T>C	c.(1984-1986)ttT>ttC	p.F662F	SELP_ENST00000367788.2_Silent_p.F600F|SELP_ENST00000367786.2_Silent_p.F600F|SELP_ENST00000367791.2_Silent_p.F476F|SELP_ENST00000367792.2_Silent_p.F478F|SELP_ENST00000367793.2_Silent_p.F600F|SELP_ENST00000367794.2_Silent_p.F600F|SELP_ENST00000458599.2_Silent_p.F478F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	662	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.F662F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TATTAAAACCAAAGGTTCCCG	0.512																																																1	Substitution - coding silent(1)	kidney(1)											288	284	286					1																	169565278		2203	4300	6503	SO:0001819	synonymous_variant	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1986T>C	1.37:g.169565278A>G			Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	3.318	-0.139335	0.06669	.	.	ENSG00000174175	ENST00000446728	.	.	.	4.22	0.283	0.15696	.	.	.	.	.	T	0.27349	0.0671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16958	-1.0385	4	.	.	.	-19.376	3.2034	0.06657	0.5343:0.2159:0.2498:0.0	.	.	.	.	R	478	.	.	W	-	1	0	SELP	167831902	0.905000	0.30787	0.992000	0.48379	0.406000	0.30931	0.380000	0.20602	0.264000	0.21851	-0.371000	0.07208	TGG		0.512	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		G	169565278	A	G	169565278	2	3	178	1	0	0	0	0	0	0	0	1	14025	127	5	3		3	SELP	1	169565278	Silent	SNP	A	TCGA-B0-5092-01A-01D-1421-08	55949126	169565278	79685343	6	10310											
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32640716	32640716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr2:32640716C>A	ENST00000421745.2	+	10	2491	c.2357C>A	c.(2356-2358)tCa>tAa	p.S786*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	786					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.S786*(1)|p.S758*(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGCTGGAATCAAATCTTGCT	0.368																																					Pancreas(94;175 1509 16028 18060 45422)											2	Substitution - Nonsense(2)	kidney(2)											67	71	70					2																	32640716		2203	4300	6503	SO:0001587	stop_gained	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2357C>A	2.37:g.32640716C>A	ENSP00000393596:p.Ser786*		Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	39	7.697085	0.98438	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.76	5.76	0.90799	.	0.190297	0.37348	N	0.002140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	.	.	.	X	786	.	ENSP00000393596:S786X	S	+	2	0	BIRC6	32494220	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.931000	0.56529	2.726000	0.93360	0.655000	0.94253	TCA		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32640716	C	A	32640716	4	1	178	1	0	0	0	0	0	1	0	0	1438	838	29	4	2395	4	BIRC6	2	32640716	Nonsense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08		32640716	210558657	7	10311											
ZC3H6	376940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	113074843	113074843	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr2:113074843A>C	ENST00000409871.1	+	7	1311	c.910A>C	c.(910-912)Aaa>Caa	p.K304Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.K304Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	304							metal ion binding (GO:0046872)	p.K304Q(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GGAGAAAAGAAAAGAGATCTG	0.259																																																1	Substitution - Missense(1)	kidney(1)											37	37	37					2																	113074843		1788	4058	5846	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.910A>C	2.37:g.113074843A>C	ENSP00000386764:p.Lys304Gln		A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.616694	0.87359	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.35973	1.28;1.28	5.44	5.44	0.79542	Zinc finger, CCCH-type (2);	0.095158	0.64402	D	0.000001	T	0.50888	0.1642	L	0.38692	1.165	0.53005	D	0.999963	D	0.89917	1.0	D	0.79784	0.993	T	0.52638	-0.8549	10	0.66056	D	0.02	-24.9442	15.7828	0.78275	1.0:0.0:0.0:0.0	.	304	P61129	ZC3H6_HUMAN	Q	304;304;281	ENSP00000386764:K304Q;ENSP00000340298:K304Q	ENSP00000340298:K304Q	K	+	1	0	ZC3H6	112791314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.881000	0.69706	2.202000	0.70862	0.477000	0.44152	AAA		0.259	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		C	113074843	A	C	113074843	3	2	178	1	0	0	0	0	1	0	0	0	17576	15	1	5	936	5	ZC3H6	2	113074843	Missense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08	80434127	113074843	130124530	8	10312											
UGGT1	56886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128927880	128927880	+	Silent	SNP	G	G	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr2:128927880G>T	ENST00000259253.6	+	27	2987	c.2940G>T	c.(2938-2940)ccG>ccT	p.P980P	UGGT1_ENST00000375990.3_Silent_p.P956P	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	980					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.P980P(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AACTGAGGCCGAAGGAAGGGG	0.438																																																1	Substitution - coding silent(1)	kidney(1)											140	114	123					2																	128927880		2203	4300	6503	SO:0001819	synonymous_variant	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2940G>T	2.37:g.128927880G>T			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	CCDS2154.1																																																																																				0.438	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		T	128927880	G	T	128927880	2	4	178	1	0	0	0	0	0	0	0	1	16946	1045	37	4		4	UGGT1	2	128927880	Silent	SNP	G	TCGA-B0-5092-01A-01D-1421-08	15853037	128927880	114271493	9	10313											
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141777522	141777522	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr2:141777522G>A	ENST00000389484.3	-	12	2910	c.1939C>T	c.(1939-1941)Ccc>Tcc	p.P647S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	647					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.P647S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTCCTCTGGGATGAGACATT	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	kidney(1)											89	91	90					2																	141777522		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1939C>T	2.37:g.141777522G>A	ENSP00000374135:p.Pro647Ser		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018364	0.93404	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99563	-6.17	5.33	5.33	0.75918	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000001	D	0.99775	0.9907	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97214	0.9873	10	0.87932	D	0	.	19.3667	0.94466	0.0:0.0:1.0:0.0	.	647	Q9NZR2	LRP1B_HUMAN	S	647;585	ENSP00000374135:P647S	ENSP00000374135:P647S	P	-	1	0	LRP1B	141493992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.748000	0.98867	2.636000	0.89361	0.557000	0.71058	CCC		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141777522	G	A	141777522	3	1	178	1	0	0	0	0	1	0	0	0	8957	1174	41	2	12180	2	LRP1B	2	141777522	Missense_Mutation	SNP	G	TCGA-B0-5092-01A-01D-1421-08	12849642	141777522	101421851	10	10314											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179474417	179474417	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr2:179474417G>T	ENST00000591111.1	-	222	47034	c.46810C>A	c.(46810-46812)Ccc>Acc	p.P15604T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8180T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P17245T|TTN_ENST00000342992.6_Missense_Mutation_p.P14677T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P8372T|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8305T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15604	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P14677T(2)|p.P8305T(1)|p.P8180T(1)|p.P8372T(1)		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)			TTACCAATGGGATCTACAGCT	0.403																																																5	Substitution - Missense(5)	kidney(5)											138	131	133					2																	179474417		1843	4092	5935	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46810C>A	2.37:g.179474417G>T	ENSP00000465570:p.Pro15604Thr		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	12.24	1.878716	0.33162	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65732	-0.17;0.15;0.04;0.02	5.85	5.85	0.93711	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62036	0.2395	L	0.53617	1.68	0.58432	D	0.999995	B;B;B;B	0.25719	0.132;0.132;0.132;0.132	B;B;B;B	0.20767	0.017;0.017;0.031;0.031	T	0.60271	-0.7296	9	0.87932	D	0	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	8180;8305;8372;15604	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	14677;8180;8372;8305;8180	ENSP00000343764:P14677T;ENSP00000434586:P8180T;ENSP00000340554:P8372T;ENSP00000352154:P8305T	ENSP00000340554:P8372T	P	-	1	0	TTN	179182662	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.263000	0.58853	2.753000	0.94483	0.655000	0.94253	CCC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179474417	G	T	179474417	3	4	178	1	0	0	0	0	1	0	0	0	16740	1174	41	4	56324	4	TTN	2	179474417	Missense_Mutation	SNP	G	TCGA-B0-5092-01A-01D-1421-08	37696895	179474417	63724956	11	10315											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52439913	52439913	+	Nonsense_Mutation	SNP	G	G	A	rs387906849		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr3:52439913G>A	ENST00000460680.1	-	10	1270	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q249*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q267*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGCTCTGGCTGTGTTACTCTT	0.517			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Nonsense(1)	kidney(1)											61	62	62					3																	52439913		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.799C>T	3.37:g.52439913G>A	ENSP00000417132:p.Gln267*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260648	0.95368	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.35	5.35	0.76521	.	0.110225	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-4.8573	19.4309	0.94765	0.0:0.0:1.0:0.0	.	.	.	.	X	267;249	.	ENSP00000296288:Q249X	Q	-	1	0	BAP1	52414953	1.000000	0.71417	0.978000	0.43139	0.989000	0.77384	6.676000	0.74498	2.663000	0.90544	0.561000	0.74099	CAG		0.517	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52439913	G	A	52439913	4	1	178	1	0	0	0	0	0	1	0	0	1311	1386	48	2	1422	2	BAP1	3	52439913	Nonsense_Mutation	SNP	G	TCGA-B0-5092-01A-01D-1421-08		52439913	145582517	12	10316											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu	37	3	52440295	52440295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr3:52440295G>A	ENST00000460680.1	-	9	1228	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q235*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q253*(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGTACTGTCTGACGGTTCACC	0.602			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Substitution - Nonsense(2)	eye(1)|kidney(1)											128	96	107					3																	52440295		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.757C>T	3.37:g.52440295G>A	ENSP00000417132:p.Gln253*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	40	8.384367	0.98786	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.1034	20.3731	0.98895	0.0:0.0:1.0:0.0	.	.	.	.	X	253;235	.	ENSP00000296288:Q235X	Q	-	1	0	BAP1	52415335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.819000	0.86621	2.829000	0.97493	0.650000	0.86243	CAG		0.602	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52440295	G	A	52440295	4	1	178	1	0	0	0	0	0	1	0	0	1311	1299	45	2	1468	2	BAP1	3	52440295	Nonsense_Mutation	SNP	G	TCGA-B0-5092-01A-01D-1421-08	382	52440295	145582135	13	10317											
SORCS2	57537	broad.mit.edu;hgsc.bcm.edu|broad.mit.edu	37	4	7533341	7533342	+	Missense_Mutation	DNP	GA	GA	TT	rs372434484		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr4:7533341_7533342GA>TT	ENST00000507866.2	+	3	742_743	c.633_634GA>TT	c.(631-636)ccGAcc>ccTTcc	p.T212S	SORCS2_ENST00000329016.9_Missense_Mutation_p.T40S|SORCS2_ENST00000511199.1_3'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	212					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T62S(1)|p.P61P(1)|p.P61>?(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACATCTGCCCGACCAACAAGAG	0.609																																																3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	Exception_encountered	4.37:g.7533341_7533342delinsTT	ENSP00000422185:p.Thr212Ser		Q9P2L7	Silent|Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1																																																																																				0.609	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		TT	7533342	GA	TT	7533341	3	4	178	1	0	0	0	0	1	0	0	0	14937	1045	37	4	643	4	SORCS2	4	7533341	Missense_Mutation	DNP	GA	TCGA-B0-5092-01A-01D-1421-08		7533341	183620935	14	10318											
UGT2A3	79799	broad.mit.edu;hgsc.bcm.edu	37	4	69795773	69795773	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr4:69795773G>C	ENST00000251566.4	-	6	1372	c.1342C>G	c.(1342-1344)Cat>Gat	p.H448D	UGT2A3_ENST00000420231.2_Missense_Mutation_p.H159D	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	448					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.H448D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTTGATCATGGTGAATTCTT	0.423																																																1	Substitution - Missense(1)	kidney(1)											90	94	93					4																	69795773		2203	4300	6503	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1342C>G	4.37:g.69795773G>C	ENSP00000251566:p.His448Asp		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256234	0.39896	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.61274	0.12;0.12	2.22	2.22	0.28083	.	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	M	0.93678	3.445	0.29490	N	0.855682	D	0.89917	1.0	D	0.75484	0.986	T	0.74711	-0.3573	10	0.87932	D	0	.	10.0537	0.42233	0.0:0.0:1.0:0.0	.	448	Q6UWM9	UD2A3_HUMAN	D	448;159	ENSP00000251566:H448D;ENSP00000440115:H159D	ENSP00000251566:H448D	H	-	1	0	UGT2A3	69830362	0.986000	0.35501	0.772000	0.31596	0.714000	0.41099	3.328000	0.52052	1.248000	0.43934	0.491000	0.48974	CAT		0.423	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		C	69795773	G	C	69795773	3	2	178	1	0	0	0	0	1	0	0	0	16960	1348	47	4	245	4	UGT2A3	4	69795773	Missense_Mutation	SNP	G	TCGA-B0-5092-01A-01D-1421-08	62262432	69795773	121358503	15	10319											
FAT4	79633	broad.mit.edu;hgsc.bcm.edu	37	4	126398472	126398472	+	Silent	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr4:126398472A>G	ENST00000394329.3	+	13	12469	c.12456A>G	c.(12454-12456)gcA>gcG	p.A4152A	FAT4_ENST00000335110.5_Silent_p.A2415A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4152	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A4117A(1)|p.A4152A(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTTGGCAGCACAAGGCATCC	0.393																																																2	Substitution - coding silent(2)	kidney(2)											132	130	130					4																	126398472		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12456A>G	4.37:g.126398472A>G			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		G	126398472	A	G	126398472	2	3	178	1	0	0	0	0	0	0	0	1	5694	146	6	3		3	FAT4	4	126398472	Silent	SNP	A	TCGA-B0-5092-01A-01D-1421-08	56602699	126398472	64755804	16	10320											
CDKN2AIP	55602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	184366710	184366710	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr4:184366710A>G	ENST00000504169.1	+	2	502	c.295A>G	c.(295-297)Aaa>Gaa	p.K99E	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.K99E|CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.K99E	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	99					negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)	p.K99E(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGTTATGGATAAAATACTTAG	0.383																																																1	Substitution - Missense(1)	kidney(1)											73	74	74					4																	184366710		2203	4300	6503	SO:0001583	missense	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.295A>G	4.37:g.184366710A>G	ENSP00000427108:p.Lys99Glu		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	A	31	5.085764	0.94100	.	.	ENSG00000168564	ENST00000504169;ENST00000302350;ENST00000510928	.	.	.	6.11	6.11	0.99139	.	0.000000	0.64402	D	0.000001	T	0.74764	0.3759	L	0.49126	1.545	0.58432	D	0.999997	D	0.71674	0.998	D	0.69654	0.965	T	0.76713	-0.2858	9	0.87932	D	0	-17.3568	16.7021	0.85357	1.0:0.0:0.0:0.0	.	99	Q9NXV6	CARF_HUMAN	E	99	.	ENSP00000303788:K99E	K	+	1	0	CDKN2AIP	184603704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.936000	0.87665	2.343000	0.79666	0.533000	0.62120	AAA		0.383	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		G	184366710	A	G	184366710	3	3	178	1	0	0	0	0	1	0	0	0	3164	363	13	3	301	3	CDKN2AIP	4	184366710	Missense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08	57968238	184366710	6787566	17	10321											
IRX1	79192	broad.mit.edu;hgsc.bcm.edu	37	5	3599934	3599934	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr5:3599934C>A	ENST00000302006.3	+	2	924	c.872C>A	c.(871-873)cCg>cAg	p.P291Q	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	291					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P291Q(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCCCCAGAGCCGGGCAGCACG	0.726																																																1	Substitution - Missense(1)	kidney(1)											3	4	4					5																	3599934		1868	3723	5591	SO:0001583	missense	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.872C>A	5.37:g.3599934C>A	ENSP00000305244:p.Pro291Gln		Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	3.303	-0.142558	0.06669	.	.	ENSG00000170549	ENST00000302006	T	0.59502	0.26	3.12	3.12	0.35913	.	0.725036	0.13959	N	0.350983	T	0.33818	0.0876	N	0.22421	0.69	0.29764	N	0.835331	P	0.43578	0.811	B	0.30716	0.119	T	0.14309	-1.0477	10	0.09590	T	0.72	.	12.4978	0.55937	0.0:1.0:0.0:0.0	.	291	P78414	IRX1_HUMAN	Q	291	ENSP00000305244:P291Q	ENSP00000305244:P291Q	P	+	2	0	IRX1	3652934	0.892000	0.30473	0.597000	0.28824	0.783000	0.44284	2.956000	0.49129	2.012000	0.59069	0.655000	0.94253	CCG		0.726	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		A	3599934	C	A	3599934	3	1	178	1	0	0	0	0	1	0	0	0	7845	652	23	4	878	4	IRX1	5	3599934	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08		3599934	177315326	18	10322											
TRIM23	373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	64892965	64892965	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr5:64892965C>T	ENST00000231524.9	-	8	1593	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	TRIM23_ENST00000274327.7_Missense_Mutation_p.V408I|TRIM23_ENST00000381018.3_Missense_Mutation_p.V408I	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	408	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V408I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CCTAACGTAACGACCCGAATT	0.323																																																1	Substitution - Missense(1)	kidney(1)											119	113	115					5																	64892965		2203	4300	6503	SO:0001583	missense	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1222G>A	5.37:g.64892965C>T	ENSP00000231524:p.Val408Ile		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483114	0.84747	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.63744	-0.06;-0.06;-0.06	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	L	0.28608	0.87	0.80722	D	1	D;D;D	0.61697	0.975;0.99;0.989	P;P;P	0.54100	0.742;0.525;0.674	T	0.67469	-0.5663	10	0.62326	D	0.03	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	408;408;408	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	I	408	ENSP00000231524:V408I;ENSP00000370406:V408I;ENSP00000274327:V408I	ENSP00000231524:V408I	V	-	1	0	TRIM23	64928721	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.920000	0.70017	2.833000	0.97629	0.585000	0.79938	GTT		0.323	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		T	64892965	C	T	64892965	3	4	178	1	0	0	0	0	1	0	0	0	16502	536	19	1	585	1	TRIM23	5	64892965	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	61293031	64892965	116022295	19	10323											
POC5	134359	broad.mit.edu	37	5	74981058	74981058	+	Missense_Mutation	SNP	C	C	A	rs372819160	byFrequency	TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr5:74981058C>A	ENST00000428202.2	-	10	1570	c.1381G>T	c.(1381-1383)Gca>Tca	p.A461S	POC5_ENST00000446329.2_Missense_Mutation_p.A436S|POC5_ENST00000380475.2_Missense_Mutation_p.A344S|POC5_ENST00000514838.2_Missense_Mutation_p.A433S|POC5_ENST00000510798.1_Missense_Mutation_p.A344S	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	461					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A461S(1)|p.A435S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCAGTAGCTGCAGATCCTGCA	0.537																																																2	Substitution - Missense(2)	kidney(2)											33	36	35					5																	74981058		2034	4175	6209	SO:0001583	missense	134359			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1381G>T	5.37:g.74981058C>A	ENSP00000410216:p.Ala461Ser		B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	C	0.630	-0.817412	0.02776	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.42900	1.95;1.53;0.96;0.96;1.95	4.17	-1.09	0.09904	.	0.804842	0.11750	N	0.533133	T	0.25531	0.0621	L	0.39633	1.23	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.06405	0.002;0.002;0.002	T	0.20273	-1.0280	10	0.27082	T	0.32	-0.3583	1.5627	0.02598	0.144:0.5603:0.1419:0.1538	.	344;461;436	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	S	461;433;344;344;436	ENSP00000410216:A461S;ENSP00000420971:A433S;ENSP00000369842:A344S;ENSP00000426796:A344S;ENSP00000399481:A436S	ENSP00000369842:A344S	A	-	1	0	POC5	75016814	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.859000	0.01657	-0.234000	0.09782	-0.264000	0.10439	GCA		0.537	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		A	74981058	C	A	74981058	3	1	178	1	0	0	0	0	1	0	0	0	12179	710	25	4	358	4	POC5	5	74981058	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	10088093	74981058	105934202	20	10324											
GPRIN1	114787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176026768	176026768	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr5:176026768C>T	ENST00000303991.4	-	2	245	c.68G>A	c.(67-69)cGa>cAa	p.R23Q		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	23					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.R23Q(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGTGGGTCGGGGTCCTGG	0.642																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.68G>A	5.37:g.176026768C>T	ENSP00000305839:p.Arg23Gln		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.278984	0.00254	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.10573	2.86	3.18	-2.39	0.06602	.	.	.	.	.	T	0.02533	0.0077	N	0.01267	-0.92	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42816	-0.9429	9	0.02654	T	1	.	7.4839	0.27421	0.0:0.3033:0.0:0.6967	.	23	Q7Z2K8	GRIN1_HUMAN	Q	23	ENSP00000305839:R23Q	ENSP00000305839:R23Q	R	-	2	0	GPRIN1	175959374	0.467000	0.25831	0.016000	0.15963	0.027000	0.11550	0.076000	0.14712	-0.792000	0.04480	-0.965000	0.02619	CGA		0.642	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		T	176026768	C	T	176026768	3	4	178	1	0	0	0	0	1	0	0	0	6731	884	31	1	2962	1	GPRIN1	5	176026768	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	101045710	176026768	4888492	21	10325											
EXOC2	55770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	532529	532529	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr6:532529A>G	ENST00000230449.4	-	23	2455	c.2320T>C	c.(2320-2322)Tcc>Ccc	p.S774P	EXOC2_ENST00000448181.3_Missense_Mutation_p.S369P	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	774					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S774P(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GGTTCTAAGGAGCCAACGATG	0.378																																																1	Substitution - Missense(1)	kidney(1)											125	119	121					6																	532529		2203	4300	6503	SO:0001583	missense	55770			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2320T>C	6.37:g.532529A>G	ENSP00000230449:p.Ser774Pro		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828161	0.71143	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.28255	1.62;1.62	5.67	5.67	0.87782	.	0.052488	0.85682	D	0.000000	T	0.19604	0.0471	M	0.63428	1.95	0.80722	D	1	P	0.40875	0.731	B	0.32533	0.147	T	0.08106	-1.0738	10	0.59425	D	0.04	-0.0072	16.2014	0.82084	1.0:0.0:0.0:0.0	.	774	Q96KP1	EXOC2_HUMAN	P	774;369	ENSP00000230449:S774P;ENSP00000398113:S369P	ENSP00000230449:S774P	S	-	1	0	EXOC2	477529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.880000	0.92407	2.281000	0.76405	0.533000	0.62120	TCC		0.378	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		G	532529	A	G	532529	3	3	178	1	0	0	0	0	1	0	0	0	5304	304	11	3	478	3	EXOC2	6	532529	Missense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08		532529	170582538	22	10326											
GCNT2	2651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10529342	10529342	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr6:10529342A>T	ENST00000379597.3	+	1	754	c.198A>T	c.(196-198)aaA>aaT	p.K66N	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.K66N			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	66					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.K66N(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ATGCATTGAAAACTACCCTTG	0.433																																																1	Substitution - Missense(1)	kidney(1)											114	119	117					6																	10529342		2203	4300	6503	SO:0001583	missense	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.198A>T	6.37:g.10529342A>T	ENSP00000368917:p.Lys66Asn			Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742371	0.49151	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.09817	2.94;2.94	5.43	0.335	0.15953	.	1.063150	0.07246	N	0.865141	T	0.03178	0.0093	L	0.44542	1.39	0.80722	D	1	B;B	0.30763	0.294;0.016	B;B	0.28916	0.096;0.028	T	0.47971	-0.9075	10	0.15066	T	0.55	-19.1112	9.0359	0.36287	0.7013:0.0:0.2987:0.0	.	66;65	Q8N0V5;Q08M29	GNT2A_HUMAN;.	N	66	ENSP00000419411:K66N;ENSP00000368917:K66N	ENSP00000368917:K66N	K	+	3	2	GCNT2	10637328	0.055000	0.20627	0.568000	0.28447	0.865000	0.49528	0.606000	0.24194	0.080000	0.16959	0.454000	0.30748	AAA		0.433	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		T	10529342	A	T	10529342	3	4	178	1	0	0	0	0	1	0	0	0	6303	11	1	5	200	5	GCNT2	6	10529342	Missense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08	9996813	10529342	160585725	23	10327											
HIST1H3J	8356	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27858524	27858524	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr6:27858524G>A	ENST00000359303.2	-	1	46	c.47C>T	c.(46-48)gCa>gTa	p.A16V	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	16					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.A16V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CTTCCGCGGTGCCTTGCCGCC	0.617																																																1	Substitution - Missense(1)	kidney(1)											27	31	30					6																	27858524		2202	4298	6500	SO:0001583	missense	8356			Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"Histones / Replication-dependent"	4774	protein-coding gene	gene with protein product		602817	"H3 histone family, member J", "histone 1, H3j"	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.47C>T	6.37:g.27858524G>A	ENSP00000352252:p.Ala16Val		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	37	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529085	0.44969	.	.	ENSG00000197153	ENST00000359303	T	0.49432	0.78	4.06	4.06	0.47325	.	.	.	.	.	T	0.56441	0.1985	.	.	.	0.52099	D	0.999946	.	.	.	.	.	.	T	0.60520	-0.7247	6	0.62326	D	0.03	.	16.036	0.80628	0.0:0.0:1.0:0.0	.	.	.	.	V	16	ENSP00000352252:A16V	ENSP00000352252:A16V	A	-	2	0	HIST1H3J	27966503	1.000000	0.71417	0.974000	0.42286	0.561000	0.35649	9.184000	0.94893	2.560000	0.86352	0.655000	0.94253	GCA		0.617	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		A	27858524	G	A	27858524	3	1	178	1	0	0	0	0	1	0	0	0	7166	1319	46	2	367	2	HIST1H3J	6	27858524	Missense_Mutation	SNP	G	TCGA-B0-5092-01A-01D-1421-08	17329182	27858524	143256543	24	10328											
ZNF165	7718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28053590	28053590	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr6:28053590A>T	ENST00000377325.1	+	2	888	c.332A>T	c.(331-333)gAa>gTa	p.E111V		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	111	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E111V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGGTACATGAACATTACCCA	0.522																																																1	Substitution - Missense(1)	kidney(1)											65	66	66					6																	28053590		2203	4300	6503	SO:0001583	missense	7718			U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.332A>T	6.37:g.28053590A>T	ENSP00000366542:p.Glu111Val			Missense_Mutation	SNP	ENST00000377325.1	37	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.503224	0.26949	.	.	ENSG00000197279	ENST00000377325	T	0.05139	3.49	3.06	1.88	0.25563	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.08626	0.0214	H	0.95151	3.63	0.09310	N	1	P	0.38711	0.643	B	0.42386	0.386	T	0.10543	-1.0625	9	0.72032	D	0.01	.	6.452	0.21908	0.8774:0.0:0.1226:0.0	.	111	P49910	ZN165_HUMAN	V	111	ENSP00000366542:E111V	ENSP00000366542:E111V	E	+	2	0	ZNF165	28161569	0.000000	0.05858	0.001000	0.08648	0.492000	0.33523	0.166000	0.16583	0.567000	0.29293	0.533000	0.62120	GAA		0.522	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		T	28053590	A	T	28053590	3	4	178	1	0	0	0	0	1	0	0	0	17745	246	9	5	334	5	ZNF165	6	28053590	Missense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08	195066	28053590	143061477	25	10329											
GPR63	81491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	97247000	97247000	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr6:97247000C>A	ENST00000229955.3	-	2	953	c.608G>T	c.(607-609)tGg>tTg	p.W203L	GPR63_ENST00000417980.1_Missense_Mutation_p.W203L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.W203L(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGAAGTTGCCCAAGAAACTGC	0.463																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											79	76	77					6																	97247000		2203	4300	6503	SO:0001583	missense	81491			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.608G>T	6.37:g.97247000C>A	ENSP00000229955:p.Trp203Leu		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640952	0.67244	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	D;D;D	0.88741	-2.42;-2.42;-2.42	5.3	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95573	0.8561	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96905	0.9663	10	0.87932	D	0	-1.9613	14.211	0.65764	0.0:0.9276:0.0:0.0724	.	203	Q9BZJ6	GPR63_HUMAN	L	227;203;203;203	ENSP00000393170:W203L;ENSP00000229955:W203L;ENSP00000358273:W203L	ENSP00000229955:W203L	W	-	2	0	GPR63	97353721	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.445000	0.80570	1.388000	0.46506	-0.142000	0.14014	TGG		0.463	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			A	97247000	C	A	97247000	3	1	178	1	0	0	0	0	1	0	0	0	6706	595	21	4	655	4	GPR63	6	97247000	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	69193410	97247000	73868067	26	10330											
RAPGEF5	9771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	22165225	22165225	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr7:22165225A>T	ENST00000401957.2	-	15	1871	c.1624T>A	c.(1624-1626)Ttt>Att	p.F542I	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.F692I			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	542	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.F406I(1)|p.F694I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TACTCACCAAACTGGTTAGTC	0.438																																																2	Substitution - Missense(2)	kidney(2)											147	140	142					7																	22165225		1965	4141	6106	SO:0001583	missense	9771			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.1624T>A	7.37:g.22165225A>T	ENSP00000384044:p.Phe542Ile		A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	37		.	.	.	.	.	.	.	.	.	.	A	19.10	3.760919	0.69763	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957	T;T	0.53640	1.12;0.61	6.07	6.07	0.98685	.	0.192469	0.56097	D	0.000026	T	0.40145	0.1105	L	0.42744	1.35	0.48901	D	0.999725	P	0.41546	0.754	B	0.32805	0.153	T	0.40194	-0.9576	10	0.56958	D	0.05	.	16.6277	0.84984	1.0:0.0:0.0:0.0	.	692	A8MQ07	.	I	692;544;406;542	ENSP00000343656:F692I;ENSP00000384044:F542I	ENSP00000258735:F406I	F	-	1	0	RAPGEF5	22131750	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.024000	0.49674	2.330000	0.79161	0.528000	0.53228	TTT		0.438	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		T	22165225	A	T	22165225	3	4	178	1	0	0	0	0	1	0	0	0	13053	43	2	5	126	5	RAPGEF5	7	22165225	Missense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08		22165225	136973438	27	10331											
KIAA0895	23366	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	36396886	36396886	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr7:36396886C>A	ENST00000297063.6	-	3	542	c.492G>T	c.(490-492)tgG>tgT	p.W164C	KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000317020.6_Missense_Mutation_p.W113C|KIAA0895_ENST00000338533.5_Missense_Mutation_p.W151C|KIAA0895_ENST00000415803.2_Missense_Mutation_p.W151C|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.W113C|KIAA0895_ENST00000436884.1_Missense_Mutation_p.W13C	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	164								p.W151C(1)|p.W164C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGGCAGTACCAAGTACCAC	0.468																																																2	Substitution - Missense(2)	kidney(2)											91	87	88					7																	36396886		1961	4147	6108	SO:0001583	missense	23366			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.492G>T	7.37:g.36396886C>A	ENSP00000297063:p.Trp164Cys		B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616457	0.28801	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000415803	.	.	.	5.89	4.06	0.47325	.	0.733878	0.14446	N	0.319064	T	0.69611	0.3130	L	0.50333	1.59	0.54753	D	0.999984	D;D;B;D;D;B;D	0.89917	1.0;1.0;0.016;1.0;0.999;0.01;0.999	D;D;B;D;D;B;D	0.91635	0.999;0.931;0.01;0.987;0.921;0.015;0.912	T	0.66492	-0.5910	9	0.59425	D	0.04	-32.2909	11.2832	0.49208	0.1423:0.721:0.1367:0.0	.	113;113;13;151;164;151;113	B4DGN6;B7ZLT4;B4DF35;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;.;K0895_HUMAN;.;.	C	164;151;113;113;13;151	.	ENSP00000297063:W164C	W	-	3	0	KIAA0895	36363411	0.971000	0.33674	0.990000	0.47175	0.734000	0.41952	1.460000	0.35244	0.794000	0.33899	0.563000	0.77884	TGG		0.468	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		A	36396886	C	A	36396886	3	1	178	1	0	0	0	0	1	0	0	0	8199	508	18	4	1090	4	KIAA0895	7	36396886	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	14231661	36396886	122741777	28	10332											
PLOD3	8985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100856398	100856398	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr7:100856398C>T	ENST00000223127.3	-	7	1165	c.767G>A	c.(766-768)gGt>gAt	p.G256D		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	256					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.G256D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTTAGTGGGACCGTTTCCATG	0.602																																																1	Substitution - Missense(1)	kidney(1)											78	66	70					7																	100856398		2203	4300	6503	SO:0001583	missense	8985			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.767G>A	7.37:g.100856398C>T	ENSP00000223127:p.Gly256Asp		B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	CCDS5715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.374748|4.374748	0.82573|0.82573	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000223127;ENST00000541462|ENST00000421736	T|.	0.75477|.	-0.94|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.056341|.	0.64402|.	D|.	0.000001|.	T|T	0.79058|0.79058	0.4382|0.4382	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74674|.	0.984|.	T|T	0.82149|0.82149	-0.0600|-0.0600	10|5	0.87932|.	D|.	0|.	-3.5486|-3.5486	14.046|14.046	0.64706|0.64706	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	256|.	O60568|.	PLOD3_HUMAN|.	D|I	256;160|89	ENSP00000223127:G256D|.	ENSP00000223127:G256D|.	G|V	-|-	2|1	0|0	PLOD3|PLOD3	100643118|100643118	1.000000|1.000000	0.71417|0.71417	0.838000|0.838000	0.33150|0.33150	0.643000|0.643000	0.38383|0.38383	7.390000|7.390000	0.79816|0.79816	2.461000|2.461000	0.83175|0.83175	0.462000|0.462000	0.41574|0.41574	GGT|GTC		0.602	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			T	100856398	C	T	100856398	3	4	178	1	0	0	0	0	1	0	0	0	12105	507	18	2	1501	2	PLOD3	7	100856398	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	64459512	100856398	58282265	29	10333											
RELN	5649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	103293158	103293158	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr7:103293158C>G	ENST00000428762.1	-	14	1762	c.1603G>C	c.(1603-1605)Gct>Cct	p.A535P	RELN_ENST00000343529.5_Missense_Mutation_p.A535P|RELN_ENST00000424685.2_Missense_Mutation_p.A535P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	535					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A535P(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATTTGGTAGCAGGAGTCTGA	0.423																																					NSCLC(146;835 1944 15585 22231 52158)											1	Substitution - Missense(1)	kidney(1)											123	125	124					7																	103293158		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1603G>C	7.37:g.103293158C>G	ENSP00000392423:p.Ala535Pro		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724582	0.89298	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25250	1.81;1.81;1.81	5.67	5.67	0.87782	.	0.110769	0.64402	D	0.000007	T	0.37073	0.0990	N	0.24115	0.695	0.45806	D	0.998688	D;P	0.71674	0.998;0.94	P;P	0.62089	0.898;0.462	T	0.04593	-1.0940	10	0.41790	T	0.15	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	535;535	P78509-2;P78509	.;RELN_HUMAN	P	535	ENSP00000392423:A535P;ENSP00000345694:A535P;ENSP00000388446:A535P	ENSP00000345694:A535P	A	-	1	0	RELN	103080394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.686000	0.54685	2.836000	0.97738	0.655000	0.94253	GCT		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		G	103293158	C	G	103293158	3	3	178	1	0	0	0	0	1	0	0	0	13226	710	25	4	8987	4	RELN	7	103293158	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	2436760	103293158	55845505	30	10334											
RP1L1	94137	broad.mit.edu;hgsc.bcm.edu	37	8	10468848	10468848	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr8:10468848C>T	ENST00000382483.3	-	4	2983	c.2760G>A	c.(2758-2760)cgG>cgA	p.R920R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	920					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.R920R(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGGACAGCCCCCGAGACCCCG	0.706																																																1	Substitution - coding silent(1)	kidney(1)											18	23	22					8																	10468848		1951	4125	6076	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2760G>A	8.37:g.10468848C>T			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																				0.706	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10468848	C	T	10468848	2	4	178	1	0	0	0	0	0	0	0	1	13539	610	22	2		2	RP1L1	8	10468848	Silent	SNP	C	TCGA-B0-5092-01A-01D-1421-08		10468848	135895174	31	10335											
PPAPDC1B	84513	broad.mit.edu	37	8	38125965	38125965	+	Silent	SNP	G	G	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr8:38125965G>C	ENST00000424479.2	-	3	218	c.198C>G	c.(196-198)ctC>ctG	p.L66L	PPAPDC1B_ENST00000529359.1_Silent_p.L25L|PPAPDC1B_ENST00000531823.1_5'UTR|PPAPDC1B_ENST00000422581.2_Silent_p.L66L|PPAPDC1B_ENST00000419686.2_Silent_p.L66L|PPAPDC1B_ENST00000530588.1_5'Flank	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	66					phospholipid dephosphorylation (GO:0046839)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.L66L(1)		kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			ACAGTGGAGAGAGAAATGCAA	0.493																																																1	Substitution - coding silent(1)	kidney(1)											38	40	39					8																	38125965		1928	4145	6073	SO:0001819	synonymous_variant	84513			AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535			25026	protein-coding gene	gene with protein product		610626					Standard	NM_032483		Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000424479.2:c.198C>G	8.37:g.38125965G>C			C9JKF5|Q3KQX6|Q9BY45	Silent	SNP	ENST00000424479.2	37	CCDS47841.1	.	.	.	.	.	.	.	.	.	.	G	9.268	1.044921	0.19748	.	.	ENSG00000147535	ENST00000534339	.	.	.	5.27	0.964	0.19655	.	.	.	.	.	T	0.61009	0.2313	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57112	-0.7867	4	.	.	.	-16.7499	12.1426	0.54007	0.0:0.6438:0.2413:0.1149	.	.	.	.	C	60	.	.	S	-	2	0	PPAPDC1B	38245122	0.615000	0.27026	0.751000	0.31187	0.983000	0.72400	-0.305000	0.08188	0.165000	0.19558	0.467000	0.42956	TCT		0.493	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381832.2	NM_032483		C	38125965	G	C	38125965	2	2	178	1	0	0	0	0	0	0	0	1	12296	929	33	4		4	PPAPDC1B	8	38125965	Silent	SNP	G	TCGA-B0-5092-01A-01D-1421-08	27657117	38125965	108238057	32	10336											
FGFR1	2260	broad.mit.edu;hgsc.bcm.edu	37	8	38275767	38275767	+	Missense_Mutation	SNP	C	C	G	rs121909637		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr8:38275767C>G	ENST00000447712.2	-	10	2350	c.1409G>C	c.(1408-1410)cGc>cCc	p.R470P	FGFR1_ENST00000335922.5_Missense_Mutation_p.R460P|FGFR1_ENST00000397091.5_Missense_Mutation_p.R468P|FGFR1_ENST00000397113.2_Missense_Mutation_p.R468P|FGFR1_ENST00000397103.1_Missense_Mutation_p.R381P|FGFR1_ENST00000532791.1_Missense_Mutation_p.R468P|FGFR1_ENST00000397108.4_Missense_Mutation_p.R468P|FGFR1_ENST00000425967.3_Missense_Mutation_p.R501P|FGFR1_ENST00000341462.5_Missense_Mutation_p.R470P|FGFR1_ENST00000326324.6_Missense_Mutation_p.R379P|FGFR1_ENST00000356207.5_Missense_Mutation_p.R381P	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	470			R -> L (in HH2; some patients also carry GNRHR mutations). {ECO:0000269|PubMed:19820032, ECO:0000269|PubMed:23643382}.		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)	p.R470P(3)|p.R460P(1)	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)	CAGCTCCCAGCGAGGGTCTTC	0.517		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	4	Substitution - Missense(4)	kidney(4)	GRCh37	CM070122	FGFR1	M	rs121909637						96	99	98					8																	38275767		1965	4151	6116	SO:0001583	missense	2260			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.1409G>C	8.37:g.38275767C>G	ENSP00000400162:p.Arg470Pro		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212800	0.79352	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.39	5.39	0.77823	Protein kinase-like domain (1);	0.090101	0.85682	D	0.000000	D	0.92996	0.7771	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.62365	0.973;0.973;0.984;0.973;0.991	P;P;B;P;P	0.51193	0.522;0.522;0.323;0.522;0.662	D	0.93570	0.6903	10	0.72032	D	0.01	.	19.4989	0.95085	0.0:1.0:0.0:0.0	.	379;379;470;460;468	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	P	468;501;470;470;470;468;468;381;460;379;381;468	ENSP00000380280:R468P;ENSP00000393312:R501P;ENSP00000400162:R470P;ENSP00000340636:R470P;ENSP00000432972:R468P;ENSP00000380302:R468P;ENSP00000348537:R381P;ENSP00000337247:R460P;ENSP00000327229:R379P;ENSP00000380292:R381P;ENSP00000380297:R468P	ENSP00000311337:R470P	R	-	2	0	FGFR1	38394924	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.666000	0.25097	2.678000	0.91216	0.655000	0.94253	CGC		0.517	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	38275767	C	G	38275767	3	3	178	1	0	0	0	0	1	0	0	0	5865	768	27	4	1095	4	FGFR1	8	38275767	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	149802	38275767	108088255	33	10337											
FAM110B	90362	broad.mit.edu	37	8	59059205	59059205	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr8:59059205A>G	ENST00000361488.3	+	5	1296	c.416A>G	c.(415-417)cAc>cGc	p.H139R	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	139						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H139R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGGCACAAGCACAGCTCCCGC	0.642																																																1	Substitution - Missense(1)	kidney(1)											25	27	27					8																	59059205		2203	4300	6503	SO:0001583	missense	90362			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.416A>G	8.37:g.59059205A>G	ENSP00000355204:p.His139Arg		Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	A	6.181	0.401653	0.11696	.	.	ENSG00000169122	ENST00000361488	T	0.28666	1.6	5.53	4.35	0.52113	.	0.387744	0.29631	N	0.011611	T	0.19208	0.0461	N	0.19112	0.55	0.38331	D	0.943796	B	0.16802	0.019	B	0.12156	0.007	T	0.07809	-1.0753	9	.	.	.	-17.1564	11.81	0.52177	0.8683:0.0:0.0:0.1317	.	139	Q8TC76	F110B_HUMAN	R	139	ENSP00000355204:H139R	.	H	+	2	0	FAM110B	59221759	0.998000	0.40836	0.852000	0.33557	0.784000	0.44337	3.391000	0.52530	0.898000	0.36418	0.459000	0.35465	CAC		0.642	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		G	59059205	A	G	59059205	3	3	178	1	0	0	0	0	1	0	0	0	5399	159	6	3	418	3	FAM110B	8	59059205	Missense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08	20783438	59059205	87304817	34	10338											
PTAR1	375743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	72338284	72338284	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr9:72338284A>T	ENST00000340434.4	-	6	908	c.905T>A	c.(904-906)cTt>cAt	p.L302H	PTAR1_ENST00000377200.5_Missense_Mutation_p.L223H	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	302					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)	p.L302R(1)|p.L302H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GGAATCAATAAGATCAGTGCT	0.398																																																2	Substitution - Missense(2)	breast(1)|kidney(1)											184	180	181					9																	72338284		1864	4107	5971	SO:0001583	missense	375743			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"Prenyltransferase alpha subunit repeat containing"	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.905T>A	9.37:g.72338284A>T	ENSP00000344299:p.Leu302His		Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	CCDS47978.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586661	0.86851	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	T;T	0.48201	0.82;0.82	5.99	5.99	0.97316	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69921	-0.5014	10	0.52906	T	0.07	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	302	Q7Z6K3	PTAR1_HUMAN	H	223;302	ENSP00000366405:L223H;ENSP00000344299:L302H	ENSP00000344299:L302H	L	-	2	0	PTAR1	71528104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.296000	0.96104	2.291000	0.77112	0.533000	0.62120	CTT		0.398	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		T	72338284	A	T	72338284	3	4	178	1	0	0	0	0	1	0	0	0	12729	72	3	5	315	5	PTAR1	9	72338284	Missense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08		72338284	68875147	35	10339											
RGS3	5998	broad.mit.edu;hgsc.bcm.edu	37	9	116346645	116346645	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr9:116346645G>C	ENST00000374140.2	+	21	3162	c.2953G>C	c.(2953-2955)Gag>Cag	p.E985Q	RGS3_ENST00000343817.5_Missense_Mutation_p.E704Q|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Missense_Mutation_p.E985Q|RGS3_ENST00000462143.1_Missense_Mutation_p.E306Q|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Missense_Mutation_p.E306Q	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	985					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E881Q(1)|p.E985Q(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCAAGAAAGAGCTGGGCCG	0.612																																																2	Substitution - Missense(2)	kidney(2)											28	31	30					9																	116346645		2185	4274	6459	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2953G>C	9.37:g.116346645G>C	ENSP00000363255:p.Glu985Gln		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916808	0.52546	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	T;T;T;T;T;T	0.78595	0.79;0.79;0.3;0.22;0.22;-1.19	5.67	4.77	0.60923	.	0.000000	0.64402	D	0.000001	D	0.83261	0.5216	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.997;0.992;0.994;0.995;0.997	D;D;P;P;P;D	0.65140	0.91;0.932;0.856;0.901;0.856;0.917	D	0.84430	0.0576	10	0.72032	D	0.01	.	11.6451	0.51257	0.0825:0.0:0.9175:0.0	.	324;881;306;704;875;985	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	Q	985;985;704;153;306;306;151	ENSP00000363255:E985Q;ENSP00000259406:E985Q;ENSP00000340284:E704Q;ENSP00000420356:E306Q;ENSP00000363249:E306Q;ENSP00000417994:E151Q	ENSP00000340284:E704Q	E	+	1	0	RGS3	115386466	1.000000	0.71417	0.990000	0.47175	0.388000	0.30384	7.249000	0.78278	1.383000	0.46405	0.655000	0.94253	GAG		0.612	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		C	116346645	G	C	116346645	3	2	178	1	0	0	0	0	1	0	0	0	13312	943	33	4	3284	4	RGS3	9	116346645	Missense_Mutation	SNP	G	TCGA-B0-5092-01A-01D-1421-08	44008361	116346645	24866786	36	10340											
FUBP3	8939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133485350	133485350	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr9:133485350A>T	ENST00000319725.9	+	3	275	c.200A>T	c.(199-201)cAg>cTg	p.Q67L		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	67					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q67L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GTAGGTAACCAGTTAGGGGCC	0.378																																																1	Substitution - Missense(1)	kidney(1)											173	168	170					9																	133485350		1838	4089	5927	SO:0001583	missense	8939			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.200A>T	9.37:g.133485350A>T	ENSP00000318177:p.Gln67Leu		A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360524	0.61403	.	.	ENSG00000107164	ENST00000358721;ENST00000319725;ENST00000372376	T	0.48522	0.81	5.72	5.72	0.89469	.	0.179585	0.49916	D	0.000121	T	0.46444	0.1393	M	0.68593	2.085	0.49915	D	0.999834	B;P	0.50156	0.356;0.932	B;B	0.39503	0.122;0.301	T	0.49360	-0.8948	10	0.33940	T	0.23	-12.0429	15.194	0.73071	1.0:0.0:0.0:0.0	.	7;67	Q96I24-2;Q96I24	.;FUBP3_HUMAN	L	54;67;7	ENSP00000318177:Q67L	ENSP00000318177:Q67L	Q	+	2	0	FUBP3	132475171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.707000	0.91367	2.184000	0.69523	0.482000	0.46254	CAG		0.378	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			T	133485350	A	T	133485350	3	4	178	1	0	0	0	0	1	0	0	0	6095	188	7	5	210	5	FUBP3	9	133485350	Missense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08	17138705	133485350	7728081	37	10341											
AKR1C1	1645	broad.mit.edu;hgsc.bcm.edu	37	10	5011032	5011032	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr10:5011032G>T	ENST00000380872.4	+	5	658	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.D156Y|AKR1C1_ENST00000380859.1_Missense_Mutation_p.D158Y	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	156					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.D156Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GAAGTGTAAAGATGCAGGATT	0.478																																					Colon(130;2054 2316 13360 15380)											1	Substitution - Missense(1)	kidney(1)											136	119	125					10																	5011032		2203	4300	6503	SO:0001583	missense	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.466G>T	10.37:g.5011032G>T	ENSP00000370254:p.Asp156Tyr		P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	CCDS7061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.693219|1.693219	0.30052|0.30052	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000434459;ENST00000380872;ENST00000380859|ENST00000442997	T;T;T|T	0.54279|0.28069	0.58;0.58;0.58|1.63	2.1|2.1	2.1|2.1	0.27182|0.27182	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);|.	0.083426|.	0.48286|.	D|.	0.000188|.	T|T	0.48909|0.48909	0.1526|0.1526	M|M	0.82716|0.82716	2.605|2.605	0.47094|0.47094	D|D	0.999313|0.999313	D|.	0.61080|.	0.989|.	P|.	0.59221|.	0.854|.	T|T	0.53885|0.53885	-0.8375|-0.8375	10|7	0.87932|0.51188	D|T	0|0.08	.|.	10.2386|10.2386	0.43299|0.43299	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	156|.	Q04828|.	AK1C1_HUMAN|.	Y|N	156;156;158|122	ENSP00000412248:D156Y;ENSP00000370254:D156Y;ENSP00000370240:D158Y|ENSP00000416415:K122N	ENSP00000370240:D158Y|ENSP00000416415:K122N	D|K	+|+	1|3	0|2	AKR1C1|AKR1C1	5001032|5001032	1.000000|1.000000	0.71417|0.71417	0.215000|0.215000	0.23724|0.23724	0.082000|0.082000	0.17680|0.17680	7.735000|7.735000	0.84939|0.84939	1.475000|1.475000	0.48197|0.48197	0.305000|0.305000	0.20034|0.20034	GAT|AAG		0.478	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		T	5011032	G	T	5011032	3	4	178	1	0	0	0	0	1	0	0	0	469	942	33	4	484	4	AKR1C1	10	5011032	Missense_Mutation	SNP	G	TCGA-B0-5092-01A-01D-1421-08		5011032	130523715	38	10342											
CAMK1D	57118	hgsc.bcm.edu;ucsc.edu	37	10	12833227	12833228	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr10:12833227_12833228insA	ENST00000378847.3	+	6	973_974	c.636_637insA	c.(637-639)atcfs	p.I213fs	CAMK1D_ENST00000378845.1_Frame_Shift_Ins_p.I213fs	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TGATTGCCTACATCTTGTAAGT	0.446																																																0																																										SO:0001589	frameshift_variant	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.637dupA	10.37:g.12833228_12833228dupA	ENSP00000368124:p.Ile213fs		B0YIY0|Q9HD31	Frame_Shift_Ins	INS	ENST00000378847.3	37	CCDS7091.1																																																																																				0.446	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		A	12833228	-	A	12833227	7	5	178	1	0	1	1	0	0	0	0	0	2599	489	17	0	658	0	CAMK1D	10	12833227	Frame_Shift_Ins	INS	-	TCGA-B0-5092-01A-01D-1421-08	7822195	12833227	122701520	39	10343											
CUZD1	50624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	124594540	124594540	+	Missense_Mutation	SNP	C	C	T	rs188322992	byFrequency	TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr10:124594540C>T	ENST00000368904.1	-	9	2013	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	CUZD1_ENST00000545804.1_Missense_Mutation_p.R355H|CUZD1_ENST00000392790.1_Missense_Mutation_p.R355H					CUB and zona pellucida-like domains 1									p.R355H(11)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTGTTTCTGACGGGTGATCAC	0.343													C|||	3	0.000599042	0.0015	0.0	5008	,	,		19043	0.0		0.001	False		,,,				2504	0.0															11	Substitution - Missense(11)	kidney(11)						C	HIS/ARG	0,4406		0,0,2203	120	114	116		1064	3.6	1	10		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUZD1	NM_022034.5	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	355/608	124594540	1,13005	2203	4300	6503	SO:0001583	missense	50624			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1064G>A	10.37:g.124594540C>T	ENSP00000357900:p.Arg355His			Missense_Mutation	SNP	ENST00000368904.1	37	CCDS7631.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	C	15.95	2.984056	0.53827	0.0	1.16E-4	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.85484	-1.99;-1.99;-1.99	4.51	3.59	0.41128	Zona pellucida sperm-binding protein (3);	0.178410	0.51477	N	0.000094	D	0.85894	0.5803	M	0.91872	3.25	0.42123	D	0.991438	P	0.43024	0.798	B	0.33690	0.168	D	0.87744	0.2587	10	0.87932	D	0	-8.859	12.7709	0.57421	0.0:0.9171:0.0:0.0829	.	355	Q86UP6	CUZD1_HUMAN	H	355;74;74;74;355;355	ENSP00000357900:R355H;ENSP00000441590:R355H;ENSP00000376540:R355H	ENSP00000357895:R74H	R	-	2	0	CUZD1	124584530	0.229000	0.23729	0.991000	0.47740	0.946000	0.59487	2.615000	0.46368	1.001000	0.39076	0.460000	0.39030	CGT		0.343	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		T	124594540	C	T	124594540	3	4	178	1	0	0	0	0	1	0	0	0	4068	536	19	1	771	1	CUZD1	10	124594540	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	111761313	124594540	10940207	40	10344											
TUB	7275	hgsc.bcm.edu	37	11	8111676	8111676	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr11:8111676A>T	ENST00000299506.2	+	3	300	c.151A>T	c.(151-153)Aat>Tat	p.N51Y	TUB_ENST00000305253.4_Missense_Mutation_p.N106Y|TUB_ENST00000534099.1_Missense_Mutation_p.N57Y	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	51					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGTGCAGGCCAATGCAGATgg	0.667																																																0													25	30	28					11																	8111676		2199	4296	6495	SO:0001583	missense	7275			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.151A>T	11.37:g.8111676A>T	ENSP00000299506:p.Asn51Tyr		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853450	0.91355	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.90261	-2.46;-2.64;-2.45	5.41	5.41	0.78517	Tubby, N-terminal (1);	0.279309	0.40818	N	0.001010	D	0.93051	0.7788	L	0.50333	1.59	0.58432	D	0.999993	D;D;D	0.69078	0.984;0.984;0.997	P;P;D	0.65010	0.77;0.77;0.931	D	0.93777	0.7080	10	0.87932	D	0	-13.4311	14.4163	0.67153	1.0:0.0:0.0:0.0	.	57;51;106	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	Y	57;106;51	ENSP00000434400:N57Y;ENSP00000305426:N106Y;ENSP00000299506:N51Y	ENSP00000299506:N51Y	N	+	1	0	TUB	8068252	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	8.659000	0.91116	2.042000	0.60477	0.533000	0.62120	AAT		0.667	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		T	8111676	A	T	8111676	3	4	178	1	0	0	0	0	1	0	0	0	16747	130	5	5	372	5	TUB	11	8111676	Missense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08		8111676	126894840	41	10345											
HIPK3	10114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	33363111	33363111	+	Silent	SNP	A	A	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr11:33363111A>G	ENST00000303296.4	+	8	2081	c.1776A>G	c.(1774-1776)gcA>gcG	p.A592A	HIPK3_ENST00000456517.1_Silent_p.A592A|HIPK3_ENST00000379016.3_Silent_p.A592A|HIPK3_ENST00000525975.1_Silent_p.A592A	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	592					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A592A(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGTTTCAGGCATTGACCACAT	0.383																																																1	Substitution - coding silent(1)	kidney(1)											236	210	219					11																	33363111		2202	4298	6500	SO:0001819	synonymous_variant	10114			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1776A>G	11.37:g.33363111A>G			O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	CCDS7884.1																																																																																				0.383	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		G	33363111	A	G	33363111	2	3	178	1	0	0	0	0	0	0	0	1	7120	204	8	3		3	HIPK3	11	33363111	Silent	SNP	A	TCGA-B0-5092-01A-01D-1421-08	25251435	33363111	101643405	42	10346											
SF3B2	10992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65827424	65827424	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr11:65827424C>T	ENST00000322535.6	+	13	1622	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S	SF3B2_ENST00000528302.1_Missense_Mutation_p.P508S	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	525					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.P525S(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CTTCGAGCTGCCAGACTTCAT	0.617																																																1	Substitution - Missense(1)	kidney(1)											62	59	60					11																	65827424		2201	4295	6496	SO:0001583	missense	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1573C>T	11.37:g.65827424C>T	ENSP00000318861:p.Pro525Ser		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782343	0.90282	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.96	5.06	0.68205	Domain of unknown function DUF382 (1);	0.000000	0.85682	D	0.000000	D	0.85982	0.5824	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89477	0.3747	9	0.87932	D	0	-7.6953	13.0805	0.59112	0.0:0.9226:0.0:0.0774	.	525	Q13435	SF3B2_HUMAN	S	508;525;429	.	ENSP00000318861:P525S	P	+	1	0	SF3B2	65584000	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.378000	0.79679	1.536000	0.49237	0.650000	0.86243	CCA		0.617	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			T	65827424	C	T	65827424	3	4	178	1	0	0	0	0	1	0	0	0	14157	739	26	2	1623	2	SF3B2	11	65827424	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	32464313	65827424	69179092	43	10347											
FOLR4	390243	broad.mit.edu;ucsc.edu	37	11	94040428	94040428	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr11:94040428G>A	ENST00000440961.2	+	3	469	c.425G>A	c.(424-426)tGc>tAc	p.C142Y		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	149					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.C143Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TCTTACACATGCAAATCCAAC	0.617																																																1	Substitution - Missense(1)	kidney(1)											97	105	102					11																	94040428		2198	4296	6494	SO:0001583	missense	390243					11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"folate receptor 4 (delta) homolog (mouse)"			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.425G>A	11.37:g.94040428G>A	ENSP00000416935:p.Cys142Tyr			Missense_Mutation	SNP	ENST00000440961.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.81|16.81	3.225163|3.225163	0.58668|0.58668	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000328458|ENST00000440961	.|T	.|0.79845	.|-1.31	4.43|4.43	2.48|2.48	0.30137|0.30137	.|.	.|0.100509	.|0.64402	.|D	.|0.000001	D|D	0.89326|0.89326	0.6683|0.6683	M|M	0.89287|0.89287	3.02|3.02	0.47511|0.47511	D|D	0.999444|0.999444	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.88606|0.88606	0.3153|0.3153	5|10	.|0.87932	.|D	.|0	-16.4424|-16.4424	9.0613|9.0613	0.36436|0.36436	0.0:0.1612:0.6717:0.1671|0.0:0.1612:0.6717:0.1671	.|.	.|142	.|A6ND01-2	.|.	T|Y	143|142	.|ENSP00000416935:C142Y	.|ENSP00000416935:C142Y	A|C	+|+	1|2	0|0	FOLR4|FOLR4	93680076|93680076	1.000000|1.000000	0.71417|0.71417	0.039000|0.039000	0.18376|0.18376	0.094000|0.094000	0.18550|0.18550	8.792000|8.792000	0.91856|0.91856	0.577000|0.577000	0.29470|0.29470	0.491000|0.491000	0.48974|0.48974	GCA|TGC		0.617	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		A	94040428	G	A	94040428	3	1	178	1	0	0	0	0	1	0	0	0	5986	1319	46	2	435	2	FOLR4	11	94040428	Missense_Mutation	SNP	G	TCGA-B0-5092-01A-01D-1421-08	28213004	94040428	40966088	44	10348											
DDX6	1656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118656898	118656898	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr11:118656898C>T	ENST00000526070.2	-	2	423	c.63G>A	c.(61-63)ctG>ctA	p.L21L	DDX6_ENST00000534980.1_Silent_p.L21L|DDX6_ENST00000264018.4_Silent_p.L21L	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	21					cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.L10L(1)|p.L21L(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CAGGGCCTCTCAGCTGACCAT	0.478			T	IGH@	B-NHL																																		Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	2	Substitution - coding silent(2)	kidney(2)											95	93	94					11																	118656898		1897	4126	6023	SO:0001819	synonymous_variant	1656			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"DEAD-boxes"	2747	protein-coding gene	gene with protein product		600326	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.63G>A	11.37:g.118656898C>T			Q5D048	Silent	SNP	ENST00000526070.2	37	CCDS44751.1																																																																																				0.478	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		T	118656898	C	T	118656898	2	4	178	1	0	0	0	0	0	0	0	1	4379	813	29	2		2	DDX6	11	118656898	Silent	SNP	C	TCGA-B0-5092-01A-01D-1421-08	24616470	118656898	16349618	45	10349											
KLRC2	3823	broad.mit.edu;hgsc.bcm.edu	37	12	10588502	10588502	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr12:10588502T>A	ENST00000539033.1	-	1	98	c.84A>T	c.(82-84)aaA>aaT	p.K28N	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Missense_Mutation_p.K28N|KLRC2_ENST00000381901.1_Missense_Mutation_p.K28N														p.K28N(1)									AAATGGAGCTTTTATTGCCTT	0.413																																																1	Substitution - Missense(1)	kidney(1)											226	235	232					12																	10588502		2203	4300	6503	SO:0001583	missense	3822																														ENST00000539033.1:c.84A>T	12.37:g.10588502T>A	ENSP00000437563:p.Lys28Asn			Missense_Mutation	SNP	ENST00000539033.1	37		.	.	.	.	.	.	.	.	.	.	T	13.33	2.205540	0.39003	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.05319	3.46;3.46;3.46	2.57	-1.83	0.07833	.	1.157730	0.06304	N	0.701436	T	0.16981	0.0408	M	0.84219	2.685	0.09310	N	1	D;P;D	0.56287	0.957;0.731;0.975	P;B;P	0.58331	0.613;0.285;0.837	T	0.24657	-1.0154	10	0.72032	D	0.01	.	0.1853	0.00128	0.2305:0.1677:0.2602:0.3415	.	14;28;28	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	N	28	ENSP00000437563:K28N;ENSP00000371327:K28N;ENSP00000371326:K28N	ENSP00000371326:K28N	K	-	3	2	KLRC2;RP11-277P12.6	10479769	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.408000	0.07169	-0.206000	0.10203	0.155000	0.16302	AAA		0.413	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			A	10588502	T	A	10588502	3	1	178	1	0	0	0	0	1	0	0	0	8418	1838	64	5	635	5	KLRC2	12	10588502	Missense_Mutation	SNP	T	TCGA-B0-5092-01A-01D-1421-08		10588502	123263393	46	10350											
NCKAP1L	3071	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54893217	54893217	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr12:54893217A>T	ENST00000293373.6	+	2	260	c.181A>T	c.(181-183)Aaa>Taa	p.K61*	NCKAP1L_ENST00000545638.2_Nonsense_Mutation_p.K11*|RP11-753H16.3_ENST00000550474.1_RNA	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	61					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.K61*(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TATCAACAAGAAATTTCCCAA	0.408																																																1	Substitution - Nonsense(1)	kidney(1)											125	119	121					12																	54893217		2203	4300	6503	SO:0001587	stop_gained	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.181A>T	12.37:g.54893217A>T	ENSP00000293373:p.Lys61*		B4DUT5|Q52LW0	Nonsense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	36	5.870832	0.97049	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0521	13.2656	0.60131	1.0:0.0:0.0:0.0	.	.	.	.	X	61;11	.	ENSP00000293373:K61X	K	+	1	0	NCKAP1L	53179484	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.029000	0.88807	2.023000	0.59567	0.383000	0.25322	AAA		0.408	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		T	54893217	A	T	54893217	4	4	178	1	0	0	0	0	0	1	0	0	10224	247	9	5	187	5	NCKAP1L	12	54893217	Nonsense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08	44304715	54893217	78958678	47	10351											
PHLDA1	22822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	76424988	76424988	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr12:76424988C>T	ENST00000266671.5	-	1	2724	c.534G>A	c.(532-534)ggG>ggA	p.G178G	RP11-290L1.3_ENST00000552367.1_RNA|RP11-290L1.2_ENST00000547721.1_RNA|PHLDA1_ENST00000602540.1_Silent_p.G37G			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	178	PH.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G178G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				TAAGCAGCAGCCCTTCCTCGG	0.632																																																1	Substitution - coding silent(1)	kidney(1)											24	21	22					12																	76424988		2202	4299	6501	SO:0001819	synonymous_variant	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"proline-histidine rich protein"	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.534G>A	12.37:g.76424988C>T			A1A4G9|Q15184|Q2TAN2|Q9NZ17	Silent	SNP	ENST00000266671.5	37	CCDS31861.1																																																																																				0.632	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350		T	76424988	C	T	76424988	2	4	178	1	0	0	0	0	0	0	0	1	11850	726	26	2		2	PHLDA1	12	76424988	Silent	SNP	C	TCGA-B0-5092-01A-01D-1421-08	21531771	76424988	57426907	48	10352											
NT5DC3	51559	broad.mit.edu;hgsc.bcm.edu	37	12	104182685	104182685	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr12:104182685C>G	ENST00000392876.3	-	10	1072	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	344						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.K344N(1)|p.K269N(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TCTCATTCATCTTTCGGAAAG	0.403																																																2	Substitution - Missense(2)	kidney(2)											221	211	214					12																	104182685		2203	4300	6503	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1032G>C	12.37:g.104182685C>G	ENSP00000376615:p.Lys344Asn		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471642	0.26423	.	.	ENSG00000111696	ENST00000392876	T	0.23147	1.92	5.81	3.99	0.46301	HAD-like domain (1);	0.096661	0.64402	D	0.000002	T	0.26159	0.0638	L	0.55103	1.725	0.39531	D	0.968661	B	0.30851	0.297	B	0.35770	0.21	T	0.03922	-1.0992	10	0.15952	T	0.53	-42.1793	12.6673	0.56849	0.0:0.8659:0.0:0.1341	.	344	Q86UY8	NT5D3_HUMAN	N	344	ENSP00000376615:K344N	ENSP00000376615:K344N	K	-	3	2	NT5DC3	102706815	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	0.952000	0.29149	0.793000	0.33875	0.655000	0.94253	AAG		0.403	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		G	104182685	C	G	104182685	3	3	178	1	0	0	0	0	1	0	0	0	10694	912	32	4	634	4	NT5DC3	12	104182685	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08	27757697	104182685	29669210	49	10353											
RASAL1	8437	broad.mit.edu	37	12	113565939	113565939	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr12:113565939T>A	ENST00000261729.5	-	4	482	c.167A>T	c.(166-168)gAg>gTg	p.E56V	RASAL1_ENST00000548055.1_Missense_Mutation_p.E56V|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.E56V|RASAL1_ENST00000546530.1_Missense_Mutation_p.E56V			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	56	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.E56V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CACCGTGTACTCCTCCCCCCA	0.622																																																1	Substitution - Missense(1)	kidney(1)											188	187	187					12																	113565939		2203	4300	6503	SO:0001583	missense	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.167A>T	12.37:g.113565939T>A	ENSP00000261729:p.Glu56Val		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692780	0.88735	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.12	5.12	0.69794	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	L	0.51914	1.62	0.47949	D	0.999551	D;D;D;D;P;D;D	0.89917	1.0;1.0;1.0;1.0;0.839;1.0;1.0	D;D;D;D;P;D;D	0.97110	1.0;1.0;0.999;1.0;0.761;0.999;0.999	T	0.81284	-0.1002	10	0.59425	D	0.04	.	13.8909	0.63738	0.0:0.0:0.0:1.0	.	56;56;56;68;56;56;56	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	V	56	ENSP00000450244:E56V;ENSP00000261729:E56V;ENSP00000395920:E56V;ENSP00000448510:E56V	ENSP00000261729:E56V	E	-	2	0	RASAL1	112050322	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.259000	0.78381	1.939000	0.56221	0.402000	0.26972	GAG		0.622	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		A	113565939	T	A	113565939	3	1	178	1	0	0	0	0	1	0	0	0	13069	1551	54	5	2323	5	RASAL1	12	113565939	Missense_Mutation	SNP	T	TCGA-B0-5092-01A-01D-1421-08	9383254	113565939	20285956	50	10354											
CDADC1	81602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	49852533	49852533	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr13:49852533C>T	ENST00000251108.6	+	7	1211	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	CDADC1_ENST00000444959.1_Silent_p.Y168Y	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	366							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.Y366Y(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GATGTGGTTACAATGCTTTTC	0.408																																																1	Substitution - coding silent(1)	kidney(1)											421	359	380					13																	49852533		2203	4300	6503	SO:0001819	synonymous_variant	81602			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1098C>T	13.37:g.49852533C>T			Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Silent	SNP	ENST00000251108.6	37	CCDS9415.1																																																																																				0.408	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		T	49852533	C	T	49852533	2	4	178	1	0	0	0	0	0	0	0	1	3055	489	17	2		2	CDADC1	13	49852533	Silent	SNP	C	TCGA-B0-5092-01A-01D-1421-08		49852533	65317345	51	10355											
EIF2AK4	440275	hgsc.bcm.edu;ucsc.edu	37	15	40299258	40299258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr15:40299258delT	ENST00000263791.5	+	24	3442	c.3399delT	c.(3397-3399)aatfs	p.N1133fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.N1105fs|EIF2AK4_ENST00000559311.1_3'UTR	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1133	Histidyl-tRNA synthetase-like.			N -> I (in Ref. 6; CAB58360). {ECO:0000305}.	cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ATATATTGAATTTAAAACGGT	0.303																																																0													61	56	58					15																	40299258		1798	4076	5874	SO:0001589	frameshift_variant	440275			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3399delT	15.37:g.40299258delT	ENSP00000263791:p.Asn1133fs		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Frame_Shift_Del	DEL	ENST00000263791.5	37	CCDS42016.1																																																																																				0.303	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			-	40299258	T	-	40299258	7	5	178	1	0	1	0	1	0	0	0	0	5001	1490	52	0	3493	0	EIF2AK4	15	40299258	Frame_Shift_Del	DEL	T	TCGA-B0-5092-01A-01D-1421-08		40299258	62232134	52	10356											
BTBD12	84464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3640657	3640657	+	Silent	SNP	G	G	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr16:3640657G>T	ENST00000294008.3	-	12	3622	c.2982C>A	c.(2980-2982)atC>atA	p.I994I		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	994	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.I994I(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ACGGCTCTGAGATCTCTCCCT	0.562								Direct reversal of damage																																								1	Substitution - coding silent(1)	kidney(1)											78	78	78					16																	3640657		2197	4300	6497	SO:0001819	synonymous_variant	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2982C>A	16.37:g.3640657G>T			Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																				0.562	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		T	3640657	G	T	3640657	2	4	178	1	0	0	0	0	0	0	0	1	1542	932	33	4		4	BTBD12	16	3640657	Silent	SNP	G	TCGA-B0-5092-01A-01D-1421-08		3640657	86714096	53	10357											
A2BP1	54715	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	7568250	7568250	+	Silent	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr16:7568250C>T	ENST00000550418.1	+	5	1117	c.129C>T	c.(127-129)gcC>gcT	p.A43A	RBFOX1_ENST00000535565.2_Silent_p.A79A|RBFOX1_ENST00000553186.1_Silent_p.A43A|RBFOX1_ENST00000547338.1_Silent_p.A43A|RBFOX1_ENST00000311745.5_Silent_p.A63A|RBFOX1_ENST00000547372.1_Silent_p.A86A|RBFOX1_ENST00000552089.1_Silent_p.A79A|RBFOX1_ENST00000340209.4_Silent_p.A48A|RBFOX1_ENST00000436368.2_Silent_p.A63A|RBFOX1_ENST00000355637.4_Silent_p.A63A|RBFOX1_ENST00000422070.4_Silent_p.A86A	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	43					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.A63A(2)|p.A43A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AATACACGGCCCCTCATCCCC	0.637																																					Ovarian(157;934 2567 15163 39509)											3	Substitution - coding silent(3)	kidney(3)											120	118	119					16																	7568250		2197	4300	6497	SO:0001819	synonymous_variant	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.129C>T	16.37:g.7568250C>T			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	CCDS55983.1																																																																																				0.637	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		T	7568250	C	T	7568250	2	4	178	1	0	0	0	0	0	0	0	1	3	610	22	2		2	A2BP1	16	7568250	Silent	SNP	C	TCGA-B0-5092-01A-01D-1421-08	3927593	7568250	82786503	54	10358											
TNRC6A	27327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24788568	24788568	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr16:24788568G>A	ENST00000395799.3	+	5	607	c.478G>A	c.(478-480)Gca>Aca	p.A160T	TNRC6A_ENST00000315183.7_Missense_Mutation_p.A160T	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	160	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A160T(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGTTATAGCAGCAAACCTTGG	0.468																																																1	Substitution - Missense(1)	kidney(1)											148	160	156					16																	24788568		2149	4279	6428	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.478G>A	16.37:g.24788568G>A	ENSP00000379144:p.Ala160Thr		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750390	0.69533	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12255	2.7;2.7	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000002	T	0.15565	0.0375	L	0.29908	0.895	0.80722	D	1	P	0.46987	0.888	P	0.44561	0.453	T	0.02009	-1.1230	10	0.25751	T	0.34	-9.4981	20.3495	0.98807	0.0:0.0:1.0:0.0	.	160	Q8NDV7	TNR6A_HUMAN	T	160	ENSP00000326900:A160T;ENSP00000379144:A160T	ENSP00000326900:A160T	A	+	1	0	TNRC6A	24696069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.767000	0.68850	2.814000	0.96858	0.591000	0.81541	GCA		0.468	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		A	24788568	G	A	24788568	3	1	178	1	0	0	0	0	1	0	0	0	16345	971	34	2	496	2	TNRC6A	16	24788568	Missense_Mutation	SNP	G	TCGA-B0-5092-01A-01D-1421-08	17220318	24788568	65566185	55	10359											
ATXN2L	11273	hgsc.bcm.edu;ucsc.edu	37	16	28847383	28847383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr16:28847383delG	ENST00000336783.4	+	22	3192	c.3025delG	c.(3025-3027)gggfs	p.G1009fs	ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.G1009fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.G1009fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.G1009fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.G1009fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.G1009fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.G1015fs|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1009					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCCCAGAGTGGGGTGCCTGC	0.706																																																0													37	45	42					16																	28847383		2195	4298	6493	SO:0001589	frameshift_variant	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3025delG	16.37:g.28847383delG	ENSP00000338718:p.Gly1009fs		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Del	DEL	ENST00000336783.4	37	CCDS10641.1																																																																																				0.706	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		-	28847383	G	-	28847383	7	5	178	1	0	1	0	1	0	0	0	0	1212	1348	47	0	3111	0	ATXN2L	16	28847383	Frame_Shift_Del	DEL	G	TCGA-B0-5092-01A-01D-1421-08	4058815	28847383	61507370	56	10360											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7579396	7579396	+	Silent	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr17:7579396G>A	ENST00000269305.4	-	4	480	c.291C>T	c.(289-291)gtC>gtT	p.V97V	TP53_ENST00000455263.2_Silent_p.V97V|TP53_ENST00000359597.4_Silent_p.V97V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Silent_p.V97V|TP53_ENST00000420246.2_Silent_p.V97V|TP53_ENST00000413465.2_Silent_p.V97V	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	97	Interaction with WWOX.		V -> A (in a sporadic cancer; somatic mutation).|V -> F (in a sporadic cancer; somatic mutation).|V -> I (in familial cancer not matching LFS; germline mutation and in a sporadic cancer; 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.S99fs*48(3)|p.V97V(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.P98fs*26(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(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)	TCTGGGAAGGGACAGAAGATG	0.637		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	25	Deletion - Frameshift(13)|Whole gene deletion(8)|Substitution - coding silent(3)|Insertion - Frameshift(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|kidney(3)|ovary(3)|lung(2)|pancreas(2)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|liver(1)											49	52	51					17																	7579396		2203	4300	6503	SO:0001819	synonymous_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.291C>T	17.37:g.7579396G>A			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	Silent	SNP	ENST00000269305.4	37	CCDS11118.1																																																																																				0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7579396	G	A	7579396	2	1	178	1	0	0	0	0	0	0	0	1	16386	1161	41	2		2	TP53	17	7579396	Silent	SNP	G	TCGA-B0-5092-01A-01D-1421-08		7579396	73615814	57	10361											
SUZ12	23512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30302576	30302576	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr17:30302576A>T	ENST00000322652.5	+	7	896	c.667A>T	c.(667-669)Aaa>Taa	p.K223*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.K200*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	223					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.K223*(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAATCAAACAAAACCCGGAAA	0.403			T	JAZF1	endometrial stromal tumours																																		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	1	Substitution - Nonsense(1)	kidney(1)											51	53	52					17																	30302576		2203	4300	6503	SO:0001587	stop_gained	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.667A>T	17.37:g.30302576A>T	ENSP00000316578:p.Lys223*		Q96BD9	Nonsense_Mutation	SNP	ENST00000322652.5	37	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	A	38	6.895112	0.97916	.	.	ENSG00000178691	ENST00000322652	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8879	15.1104	0.72351	1.0:0.0:0.0:0.0	.	.	.	.	X	223	.	ENSP00000316578:K223X	K	+	1	0	SUZ12	27326689	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.561000	0.82288	1.953000	0.56701	0.421000	0.28195	AAA		0.403	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		T	30302576	A	T	30302576	4	4	178	1	0	0	0	0	0	1	0	0	15421	15	1	5	693	5	SUZ12	17	30302576	Nonsense_Mutation	SNP	A	TCGA-B0-5092-01A-01D-1421-08	22723180	30302576	50892634	58	10362											
ACSF2	80221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48538731	48538731	+	Splice_Site	SNP	G	G	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr17:48538731G>C	ENST00000300441.4	+	3	557	c.453G>C	c.(451-453)ctG>ctC	p.L151L	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000427954.2_Splice_Site_p.L176L	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	151					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)	p.L151L(1)		endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCATCATTCTGGTGAGGAGGG	0.617																																																1	Substitution - coding silent(1)	kidney(1)											37	30	32					17																	48538731		2203	4300	6503	SO:0001630	splice_region_variant	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.453+1G>C	17.37:g.48538731G>C			B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Silent	SNP	ENST00000300441.4	37	CCDS11567.1																																																																																				0.617	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149	Silent	C	48538731	G	C	48538731	5	2	178	1	0	0	0	0	0	0	1	0	175	1362	47	4	463	4	ACSF2	17	48538731	Splice_Site	SNP	G	TCGA-B0-5092-01A-01D-1421-08	18236155	48538731	32656479	59	10363											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9065878	9065878	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr19:9065878T>C	ENST00000397910.4	-	3	21771	c.21568A>G	c.(21568-21570)Agc>Ggc	p.S7190G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7192	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S7190G(2)|p.S2823G(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCAGAGCTGGGAATCTCC	0.498																																																3	Substitution - Missense(3)	kidney(3)											208	196	200					19																	9065878		2107	4238	6345	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21568A>G	19.37:g.9065878T>C	ENSP00000381008:p.Ser7190Gly		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.674	-0.066894	0.07273	.	.	ENSG00000181143	ENST00000397910	T	0.25579	1.79	2.45	0.261	0.15592	.	.	.	.	.	T	0.21347	0.0514	L	0.53249	1.67	.	.	.	B	0.02656	0.0	B	0.08055	0.003	T	0.21449	-1.0245	8	0.87932	D	0	.	4.6024	0.12359	0.0:0.3188:0.0:0.6812	.	7190	B5ME49	.	G	7190	ENSP00000381008:S7190G	ENSP00000381008:S7190G	S	-	1	0	MUC16	8926878	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.363000	0.07593	-0.010000	0.14271	-1.382000	0.01172	AGC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9065878	T	C	9065878	3	2	178	1	0	0	0	0	1	0	0	0	9975	1580	55	3	22283	3	MUC16	19	9065878	Missense_Mutation	SNP	T	TCGA-B0-5092-01A-01D-1421-08		9065878	50063105	60	10364											
GPATCH1	55094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	33608751	33608751	+	Silent	SNP	C	C	T	rs370382787		TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr19:33608751C>T	ENST00000170564.2	+	16	2531	c.2217C>T	c.(2215-2217)gaC>gaT	p.D739D		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	739					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.D739D(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AAGATGTGGACGCACAGGCTG	0.498																																					Pancreas(67;88 1713 4567 18227)											1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	93	89	90		2217	-3.4	0	19		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPATCH1	NM_018025.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		739/932	33608751	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55094			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2217C>T	19.37:g.33608751C>T			Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																				0.498	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		T	33608751	C	T	33608751	2	4	178	1	0	0	0	0	0	0	0	1	6592	535	19	1		1	GPATCH1	19	33608751	Silent	SNP	C	TCGA-B0-5092-01A-01D-1421-08	24542873	33608751	25520232	61	10365											
SPEF1	25876	broad.mit.edu;hgsc.bcm.edu	37	20	3759097	3759097	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr20:3759097C>T	ENST00000379756.3	-	6	734	c.574G>A	c.(574-576)Gag>Aag	p.E192K	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	192						axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.E192K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						GCCAACAGCTCCTGCTCCTTT	0.701																																																1	Substitution - Missense(1)	kidney(1)											32	34	34					20																	3759097		1940	4137	6077	SO:0001583	missense	25876			AL080154	CCDS13063.2	20p13	2013-09-23	2007-08-20	2007-08-20	ENSG00000101222	ENSG00000101222			15874	protein-coding gene	gene with protein product		610674	"chromosome 20 open reading frame 28"	C20orf28		15979255	Standard	NM_015417		Approved	DKFZP434I114, SPEF1A	uc002wjj.3	Q9Y4P9	OTTHUMG00000031756	ENST00000379756.3:c.574G>A	20.37:g.3759097C>T	ENSP00000369080:p.Glu192Lys		A5YM71|D3DVY0|Q5JX78	Missense_Mutation	SNP	ENST00000379756.3	37	CCDS13063.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239642	0.79800	.	.	ENSG00000101222	ENST00000379756	.	.	.	4.96	4.96	0.65561	.	0.095438	0.41097	D	0.000959	T	0.47710	0.1460	L	0.38175	1.15	0.39804	D	0.972615	D	0.55172	0.97	P	0.49332	0.607	T	0.40701	-0.9549	9	0.06494	T	0.89	-34.6275	16.0861	0.81049	0.0:1.0:0.0:0.0	.	192	Q9Y4P9	SPEF1_HUMAN	K	192	.	ENSP00000369080:E192K	E	-	1	0	SPEF1	3707097	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.473000	0.53122	2.476000	0.83614	0.551000	0.68910	GAG		0.701	SPEF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077760.2			T	3759097	C	T	3759097	3	4	178	1	0	0	0	0	1	0	0	0	15039	864	30	2	144	2	SPEF1	20	3759097	Missense_Mutation	SNP	C	TCGA-B0-5092-01A-01D-1421-08		3759097	59266423	62	10366											
SFRS15	57466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33074643	33074643	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr21:33074643T>C	ENST00000286835.7	-	5	753	c.371A>G	c.(370-372)aAa>aGa	p.K124R	SCAF4_ENST00000434667.3_Missense_Mutation_p.K109R|SCAF4_ENST00000399804.1_Missense_Mutation_p.K124R	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	124	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K124R(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATTTCAATTTTGAACACTCC	0.363																																																1	Substitution - Missense(1)	kidney(1)											112	101	105					21																	33074643		2203	4300	6503	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.371A>G	21.37:g.33074643T>C	ENSP00000286835:p.Lys124Arg		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889013	0.72524	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.42131	0.98;0.98;0.98	5.69	5.69	0.88448	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.050052	0.85682	D	0.000000	T	0.58807	0.2148	L	0.59436	1.845	0.58432	D	0.999991	D;D;D;D	0.57899	0.981;0.981;0.976;0.981	D;P;P;D	0.64237	0.923;0.846;0.875;0.923	T	0.56312	-0.8000	10	0.37606	T	0.19	-22.033	15.9434	0.79776	0.0:0.0:0.0:1.0	.	109;124;124;124	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	R	109;124;124	ENSP00000402377:K109R;ENSP00000286835:K124R;ENSP00000382703:K124R	ENSP00000286835:K124R	K	-	2	0	SCAF4	31996514	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.180000	0.71981	2.168000	0.68352	0.397000	0.26171	AAA		0.363	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		C	33074643	T	C	33074643	3	2	178	1	0	0	0	0	1	0	0	0	14177	1841	64	3	3136	3	SFRS15	21	33074643	Missense_Mutation	SNP	T	TCGA-B0-5092-01A-01D-1421-08		33074643	15055252	63	10367											
CBR1	873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37445149	37445149	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr21:37445149T>G	ENST00000290349.6	+	3	978	c.803T>G	c.(802-804)tTt>tGt	p.F268C	SETD4_ENST00000399201.1_Intron|CBR1_ENST00000530908.1_3'UTR|AP000688.14_ENST00000535199.1_RNA	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	268					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)	p.F268C(1)		endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	CATGGACAATTTGTTTCAGAG	0.547																																																1	Substitution - Missense(1)	kidney(1)											51	55	54					21																	37445149		2203	4300	6503	SO:0001583	missense	873				CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1548	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 1"	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.803T>G	21.37:g.37445149T>G	ENSP00000290349:p.Phe268Cys		B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742828	0.49151	.	.	ENSG00000159228	ENST00000290349	T	0.10192	2.9	5.96	5.96	0.96718	NAD(P)-binding domain (1);	0.133571	0.64402	D	0.000001	T	0.33904	0.0879	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.09335	-1.0679	10	0.87932	D	0	-20.7392	12.1056	0.53810	0.1285:0.0:0.0:0.8715	.	268	P16152	CBR1_HUMAN	C	268	ENSP00000290349:F268C	ENSP00000290349:F268C	F	+	2	0	CBR1	36367019	1.000000	0.71417	0.968000	0.41197	0.142000	0.21351	2.770000	0.47662	2.285000	0.76669	0.533000	0.62120	TTT		0.547	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2			G	37445149	T	G	37445149	3	3	178	1	0	0	0	0	1	0	0	0	2710	1841	64	5	813	5	CBR1	21	37445149	Missense_Mutation	SNP	T	TCGA-B0-5092-01A-01D-1421-08	4370506	37445149	10684746	64	10368											
SLC5A1	6523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32482294	32482294	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr22:32482294T>C	ENST00000266088.4	+	10	1359	c.1109T>C	c.(1108-1110)gTg>gCg	p.V370A	SLC5A1_ENST00000543737.1_Missense_Mutation_p.V243A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	370					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.V370A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CCAACCTTAGTGGTGGAGCTC	0.478																																																1	Substitution - Missense(1)	kidney(1)											169	143	152					22																	32482294		2203	4300	6503	SO:0001583	missense	6523				CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1109T>C	22.37:g.32482294T>C	ENSP00000266088:p.Val370Ala		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	T	32	5.157402	0.94686	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.88124	-2.34;-2.34	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.94052	0.8094	M	0.89968	3.075	0.80722	D	1	P	0.35894	0.526	P	0.54544	0.755	D	0.94746	0.7923	10	0.87932	D	0	.	14.7648	0.69632	0.0:0.0:0.0:1.0	.	370	P13866	SC5A1_HUMAN	A	370;243	ENSP00000266088:V370A;ENSP00000444898:V243A	ENSP00000266088:V370A	V	+	2	0	SLC5A1	30812294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.851000	0.86920	2.145000	0.66743	0.477000	0.44152	GTG		0.478	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		C	32482294	T	C	32482294	3	2	178	1	0	0	0	0	1	0	0	0	14667	1696	59	3	1147	3	SLC5A1	22	32482294	Missense_Mutation	SNP	T	TCGA-B0-5092-01A-01D-1421-08		32482294	18822272	65	10369											
TCF20	6942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	22	42605745	42605746	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr22:42605745_42605746TC>AA	ENST00000359486.3	-	1	5702_5703	c.5566_5567GA>TT	c.(5566-5568)GAg>TTg	p.E1856L	TCF20_ENST00000335626.4_Missense_Mutation_p.E1856L|TCF20_ENST00000404876.1_Missense_Mutation_p.E157L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1856					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E1856V(1)|p.E1856*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AATACAACCCTCATGGACCCAA	0.525																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	kidney(2)																																								SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5566_5567delinsAA	22.37:g.42605745_42605746delinsAA	ENSP00000352463:p.Glu1856Leu		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1																																																																																				0.525	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		AA	42605746	TC	AA	42605745	3	1	178	1	0	0	0	0	1	0	0	0	15695	1551	54	5	353	5	TCF20	22	42605745	Missense_Mutation	DNP	TC	TCGA-B0-5092-01A-01D-1421-08	10123451	42605745	8698821	66	10370											
FBLN1	2192	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45929741	45929741	+	Silent	SNP	G	G	A			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chr22:45929741G>A	ENST00000327858.6	+	7	842	c.747G>A	c.(745-747)ggG>ggA	p.G249G	FBLN1_ENST00000442170.2_Silent_p.G249G|FBLN1_ENST00000340923.5_Silent_p.G249G|FBLN1_ENST00000348697.2_Silent_p.G249G|FBLN1_ENST00000402984.3_Silent_p.G287G|FBLN1_ENST00000262722.7_Silent_p.G249G	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	249	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.G249G(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCAGCTGCGGGACTGGCTATG	0.582																																																3	Substitution - coding silent(3)	kidney(3)											121	124	123					22																	45929741		2203	4300	6503	SO:0001819	synonymous_variant	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.747G>A	22.37:g.45929741G>A			B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																				0.582	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		A	45929741	G	A	45929741	2	1	178	1	0	0	0	0	0	0	0	1	5700	1161	41	2		2	FBLN1	22	45929741	Silent	SNP	G	TCGA-B0-5092-01A-01D-1421-08	3323996	45929741	5374825	67	10371											
WNK3	65267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54321069	54321069	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chrX:54321069T>C	ENST00000375159.2	-	7	1609	c.1610A>G	c.(1609-1611)gAa>gGa	p.E537G	WNK3_ENST00000375169.3_Missense_Mutation_p.E537G|WNK3_ENST00000354646.2_Missense_Mutation_p.E537G			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	537					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E537G(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCTTCACATTCAGCCCCAGT	0.468																																																1	Substitution - Missense(1)	kidney(1)											77	61	67					X																	54321069		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1610A>G	X.37:g.54321069T>C	ENSP00000364301:p.Glu537Gly		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543442	0.65198	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.76186	-0.96;-1.0;-1.0	5.04	5.04	0.67666	.	0.000000	0.52532	D	0.000063	T	0.77805	0.4185	L	0.34521	1.04	0.35045	D	0.760122	D;P	0.63046	0.992;0.671	D;P	0.64144	0.922;0.542	D	0.84611	0.0678	10	0.72032	D	0.01	-15.3997	12.8096	0.57631	0.0:0.0:0.0:1.0	.	537;537	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	G	537	ENSP00000364312:E537G;ENSP00000346667:E537G;ENSP00000364301:E537G	ENSP00000346667:E537G	E	-	2	0	WNK3	54337794	1.000000	0.71417	0.977000	0.42913	0.800000	0.45204	3.764000	0.55264	1.662000	0.50781	0.481000	0.45027	GAA		0.468	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		C	54321069	T	C	54321069	3	2	178	1	0	0	0	0	1	0	0	0	17384	1783	62	3	3860	3	WNK3	23	54321069	Missense_Mutation	SNP	T	TCGA-B0-5092-01A-01D-1421-08		54321069	100949491	68	10372											
TSPAN6	7105	broad.mit.edu|broad.mit.edu;hgsc.bcm.edu	37	X	99890219	99890220	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-B0-5092-01A-01D-1421-08	TCGA-B0-5092-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	76b9d9e3-6010-4894-8435-debe95a376b5	36ee6525-023c-42c2-a752-38bc55af5aba	g.chrX:99890219_99890220CC>AA	ENST00000373020.4	-	3	417_418	c.306_307GG>TT	c.(304-309)ttGGtc>ttTTtc	p.102_103LV>FF	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	102					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.L102>?(1)|p.L102F(1)|p.V103F(1)		endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						ACCAGTTCGACCAAAAAAACGA	0.391																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	7105			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"Tetraspanins"	11858	protein-coding gene	gene with protein product		300191	"transmembrane 4 superfamily member 6"	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.306_307delinsAA	X.37:g.99890219_99890220delinsAA	ENSP00000362111:p.L102_V103delinsFF		Q54A42|Q6IAN9	Missense_Mutation	SNP	ENST00000373020.4	37	CCDS14470.1																																																																																				0.391	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1			AA	99890220	CC	AA	99890219	3	1	178	1	0	0	0	0	1	0	0	0	16656	507	18	4	450	4	TSPAN6	23	99890219	Missense_Mutation	DNP	CC	TCGA-B0-5092-01A-01D-1421-08	45569150	99890219	55380341	69	10373											
PTCHD2	57540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11594491	11594491	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:11594491G>T	ENST00000294484.6	+	18	3567	c.3429G>T	c.(3427-3429)tgG>tgT	p.W1143C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.W1143C|PTCHD2_ENST00000304391.6_Nonsense_Mutation_p.G30*	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1143					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.W1360C(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACCTGCGCTGGGAGAGCTTCC	0.607																																																1	Substitution - Missense(1)	kidney(1)											77	84	82					1																	11594491		2042	4196	6238	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3429G>T	1.37:g.11594491G>T	ENSP00000294484:p.Trp1143Cys		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.800567|6.800567	0.97849|0.97849	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.90788	.|-2.72;-2.73	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.92573	.|0.7641	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|D	.|0.92526	.|0.6029	.|10	0.87932|0.44086	D|T	0|0.13	-15.7862|-15.7862	17.6498|17.6498	0.88159|0.88159	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1143	.|Q9P2K9	.|PTHD2_HUMAN	X|C	30|1143	.|ENSP00000294484:W1143C;ENSP00000374226:W1143C	ENSP00000303400:G30X|ENSP00000294484:W1143C	G|W	+|+	1|3	0|0	PTCHD2|PTCHD2	11517078|11517078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	9.578000|9.578000	0.98200|0.98200	2.430000|2.430000	0.82344|0.82344	0.561000|0.561000	0.74099|0.74099	GGA|TGG		0.607	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		T	11594491	G	T	11594491	3	4	179	1	0	0	0	0	1	0	0	0	12738	1241	43	4	3495	4	PTCHD2	1	11594491	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08		11594491	237656130	1	10374											
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19482023	19482023	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:19482023T>C	ENST00000375254.3	-	43	6239	c.6212A>G	c.(6211-6213)tAt>tGt	p.Y2071C	UBR4_ENST00000375226.2_Missense_Mutation_p.Y2071C|UBR4_ENST00000375217.2_Missense_Mutation_p.Y2071C|UBR4_ENST00000375267.2_Missense_Mutation_p.Y2071C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2071					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y2071C(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGCTGAGTATAGATGTACCC	0.433																																																1	Substitution - Missense(1)	kidney(1)											98	89	92					1																	19482023		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6212A>G	1.37:g.19482023T>C	ENSP00000364403:p.Tyr2071Cys		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335018	0.81801	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;3.2	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.984	T	0.59005	-0.7535	10	0.87932	D	0	.	14.9281	0.70896	0.0:0.0:0.0:1.0	.	2071;2071	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	C	2071;2071;2071;2071;781;1287	ENSP00000364403:Y2071C;ENSP00000364416:Y2071C;ENSP00000364365:Y2071C;ENSP00000364374:Y2071C;ENSP00000404897:Y781C	ENSP00000364365:Y2071C	Y	-	2	0	UBR4	19354610	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.330000	0.79181	2.112000	0.64535	0.528000	0.53228	TAT		0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19482023	T	C	19482023	3	2	179	1	0	0	0	0	1	0	0	0	16909	1406	49	3	9595	3	UBR4	1	19482023	Missense_Mutation	SNP	T	TCGA-B0-5094-01A-01D-1421-08	7887532	19482023	229768598	2	10375											
HIVEP3	59269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	42045713	42045713	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:42045713C>T	ENST00000372583.1	-	4	5641	c.4756G>A	c.(4756-4758)Ggt>Agt	p.G1586S	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G1586S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G1586S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G1586S|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1586					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1586S(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGTCCGTACCTTCTTGTGAC	0.493																																																1	Substitution - Missense(1)	kidney(1)											175	145	155					1																	42045713		2203	4300	6503	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4756G>A	1.37:g.42045713C>T	ENSP00000361664:p.Gly1586Ser		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	7.891	0.732279	0.15507	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05996	3.38;3.36;3.36;3.38	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000036	T	0.10165	0.0249	L	0.57536	1.79	0.38404	D	0.945749	P;P	0.51537	0.946;0.911	B;B	0.43155	0.41;0.232	T	0.01330	-1.1383	10	0.59425	D	0.04	-12.3291	13.5611	0.61790	0.0:0.9253:0.0:0.0747	.	1586;1586	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	1586	ENSP00000361665:G1586S;ENSP00000361664:G1586S;ENSP00000247584:G1586S;ENSP00000410828:G1586S	ENSP00000247584:G1586S	G	-	1	0	HIVEP3	41818300	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.221000	0.42917	2.894000	0.99253	0.655000	0.94253	GGT		0.493	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		T	42045713	C	T	42045713	3	4	179	1	0	0	0	0	1	0	0	0	7190	681	24	2	2488	2	HIVEP3	1	42045713	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	22563690	42045713	207204908	3	10376											
MCOLN3	55283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	85491737	85491737	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:85491737T>C	ENST00000370589.2	-	9	1032	c.980A>G	c.(979-981)aAg>aGg	p.K327R	MCOLN3_ENST00000474447.1_5'Flank|MCOLN3_ENST00000341115.4_Missense_Mutation_p.K271R|MCOLN3_ENST00000370587.1_3'UTR|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	327					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K327R(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AGAAACTTCCTTCTTATAATG	0.343																																																1	Substitution - Missense(1)	kidney(1)											51	49	50					1																	85491737		2203	4299	6502	SO:0001583	missense	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.980A>G	1.37:g.85491737T>C	ENSP00000359621:p.Lys327Arg		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	T	6.622	0.483244	0.12581	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.75589	-0.95;-0.95	6.16	5.03	0.67393	.	0.041428	0.85682	D	0.000000	T	0.38348	0.1037	L	0.28458	0.855	0.41074	D	0.985471	B;B;B	0.30542	0.004;0.238;0.284	B;B;B	0.28139	0.003;0.086;0.055	T	0.31998	-0.9923	10	0.10377	T	0.69	0.0737	8.1296	0.31018	0.0:0.0665:0.1365:0.797	.	327;271;327	A8K841;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	R	327;327;271;271	ENSP00000359621:K327R;ENSP00000342698:K271R	ENSP00000304843:K327R	K	-	2	0	MCOLN3	85264325	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	3.979000	0.56888	1.124000	0.41980	0.528000	0.53228	AAG		0.343	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		C	85491737	T	C	85491737	3	2	179	1	0	0	0	0	1	0	0	0	9399	1609	56	3	701	3	MCOLN3	1	85491737	Missense_Mutation	SNP	T	TCGA-B0-5094-01A-01D-1421-08	43446024	85491737	163758884	4	10377											
NOTCH2	4853	broad.mit.edu;hgsc.bcm.edu	37	1	120464896	120464896	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:120464896G>A	ENST00000256646.2	-	28	5395	c.5176C>T	c.(5176-5178)Cgt>Tgt	p.R1726C	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1726					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.R1726C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTCACGACGCTTGTGATTG	0.488			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	kidney(1)											87	84	85					1																	120464896		2203	4300	6503	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5176C>T	1.37:g.120464896G>A	ENSP00000256646:p.Arg1726Cys		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532466	0.85812	.	.	ENSG00000134250	ENST00000256646	D	0.85088	-1.94	5.44	5.44	0.79542	.	0.196730	0.25135	U	0.032879	D	0.91280	0.7251	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	P	0.57679	0.825	D	0.92348	0.5887	10	0.87932	D	0	.	18.6191	0.91315	0.0:0.0:1.0:0.0	.	1726	Q04721	NOTC2_HUMAN	C	1726	ENSP00000256646:R1726C	ENSP00000256646:R1726C	R	-	1	0	NOTCH2	120266419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.356000	0.79445	2.715000	0.92844	0.655000	0.94253	CGT		0.488	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120464896	G	A	120464896	3	1	179	1	0	0	0	0	1	0	0	0	10550	1087	38	1	2267	1	NOTCH2	1	120464896	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	34973159	120464896	128785725	5	10378											
NR1I3	9970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161200669	161200669	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:161200669A>T	ENST00000367982.4	-	8	1018	c.863T>A	c.(862-864)cTg>cAg	p.L288Q	NR1I3_ENST00000508387.1_Missense_Mutation_p.C113S|NR1I3_ENST00000515621.1_Missense_Mutation_p.L209Q|NR1I3_ENST00000502985.1_Missense_Mutation_p.C142S|NR1I3_ENST00000511676.1_Missense_Mutation_p.L255Q|NR1I3_ENST00000428574.2_Missense_Mutation_p.L289Q|NR1I3_ENST00000367983.4_Missense_Mutation_p.L284Q|NR1I3_ENST00000508740.1_Missense_Mutation_p.L260Q|NR1I3_ENST00000412844.2_Missense_Mutation_p.L264Q|NR1I3_ENST00000367985.3_Missense_Mutation_p.L250Q|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000512372.1_Missense_Mutation_p.L216Q|NR1I3_ENST00000505005.1_Missense_Mutation_p.L245Q|NR1I3_ENST00000367979.2_Missense_Mutation_p.L293Q|NR1I3_ENST00000506209.1_Missense_Mutation_p.L255Q|NR1I3_ENST00000504010.1_Missense_Mutation_p.L216Q|NR1I3_ENST00000442691.2_Missense_Mutation_p.L288Q|NR1I3_ENST00000367984.4_Missense_Mutation_p.L245Q|NR1I3_ENST00000511944.1_Missense_Mutation_p.C142S|NR1I3_ENST00000367981.3_Missense_Mutation_p.L260Q|NR1I3_ENST00000367980.2_Missense_Mutation_p.L293Q|NR1I3_ENST00000437437.2_Missense_Mutation_p.L255Q|NR1I3_ENST00000511748.1_Missense_Mutation_p.C113S			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	288					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L284Q(1)|p.L289Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTCCTCTTGCAGCTGATCAAT	0.602																																																2	Substitution - Missense(2)	kidney(2)											95	84	88					1																	161200669		2203	4300	6503	SO:0001583	missense	9970			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.863T>A	1.37:g.161200669A>T	ENSP00000356961:p.Leu288Gln		E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	CCDS41430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.5|25.5	4.648361|4.648361	0.87958|0.87958	.|.	.|.	ENSG00000143257|ENSG00000143257	ENST00000508387;ENST00000502985;ENST00000511944;ENST00000511748|ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209	D;D;D;D|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92647|0.97256	-2.88;-3.08;-3.08;-2.88|-3.99;-4.31;-4.31;-4.31;-4.31;-4.31;-4.31;-3.99;-4.31;-4.31;-3.99;-4.31;-4.31;-4.31;-3.99;-3.99;-4.31;-4.31	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.325647	.|0.28332	.|N	.|0.015734	D|D	0.98052|0.98052	0.9358|0.9358	M|M	0.85777|0.85777	2.775|2.775	.|0.39206	.|D	.|0.963221	B;B|P;D;P;D;P;B;P;D;P;D;D;D;P;P;D;D;D	0.17038|0.76494	0.01;0.02|0.777;0.998;0.951;0.996;0.491;0.274;0.661;0.999;0.478;0.994;0.986;0.991;0.661;0.861;0.994;0.998;0.998	B;B|P;D;P;P;B;B;B;D;B;P;P;P;B;P;P;D;D	0.12156|0.66084	0.007;0.005|0.453;0.941;0.691;0.877;0.184;0.135;0.335;0.915;0.193;0.903;0.701;0.822;0.335;0.469;0.839;0.927;0.915	D|D	0.99671|0.99671	1.0996|1.0996	8|9	0.14656|0.87932	T|D	0.56|0	.|.	13.3527|13.3527	0.60611|0.60611	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	113;142|255;264;245;245;250;284;288;288;293;209;216;216;255;255;260;260;289	Q6GZ70;Q6GZ72|E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.|.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	S|Q	113;142;142;113|216;284;293;255;288;264;289;245;260;288;216;255;260;209;245;250;293;255	ENSP00000422982:C113S;ENSP00000421374:C142S;ENSP00000426292:C142S;ENSP00000427600:C113S|ENSP00000425417:L216Q;ENSP00000356962:L284Q;ENSP00000356959:L293Q;ENSP00000407446:L255Q;ENSP00000406493:L288Q;ENSP00000399361:L264Q;ENSP00000412672:L289Q;ENSP00000424934:L245Q;ENSP00000423666:L260Q;ENSP00000356961:L288Q;ENSP00000424345:L216Q;ENSP00000427175:L255Q;ENSP00000356960:L260Q;ENSP00000421588:L209Q;ENSP00000356963:L245Q;ENSP00000356965:L250Q;ENSP00000356958:L293Q;ENSP00000423089:L255Q	ENSP00000421374:C142S|ENSP00000356958:L293Q	C|L	-|-	1|2	0|0	NR1I3|NR1I3	159467293|159467293	0.974000|0.974000	0.33945|0.33945	0.989000|0.989000	0.46669|0.46669	0.992000|0.992000	0.81027|0.81027	4.695000|4.695000	0.61767|0.61767	2.033000|2.033000	0.60031|0.60031	0.459000|0.459000	0.35465|0.35465	TGC|CTG		0.602	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			T	161200669	A	T	161200669	3	4	179	1	0	0	0	0	1	0	0	0	10623	188	7	5	298	5	NR1I3	1	161200669	Missense_Mutation	SNP	A	TCGA-B0-5094-01A-01D-1421-08	40735773	161200669	88049952	6	10379											
C1orf114	57821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169391258	169391258	+	Silent	SNP	A	A	G			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:169391258A>G	ENST00000367806.3	-	3	563	c.411T>C	c.(409-411)ctT>ctC	p.L137L	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Silent_p.L137L|CCDC181_ENST00000367805.3_Silent_p.L137L	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	137						nucleus (GO:0005634)		p.L137L(1)									GATTCTGTAGAAGCTTGTTAG	0.398																																																1	Substitution - coding silent(1)	kidney(1)											101	104	103					1																	169391258		2203	4300	6503	SO:0001819	synonymous_variant	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.411T>C	1.37:g.169391258A>G			O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37																																																																																					0.398	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		G	169391258	A	G	169391258	2	3	179	1	0	0	0	0	0	0	0	1	1989	233	9	3		3	C1orf114	1	169391258	Silent	SNP	A	TCGA-B0-5094-01A-01D-1421-08	8190589	169391258	79859363	7	10380											
RNASEL	6041	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	182551344	182551344	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:182551344A>G	ENST00000367559.3	-	4	1869	c.1616T>C	c.(1615-1617)tTt>tCt	p.F539S	RNASEL_ENST00000539397.1_Missense_Mutation_p.F539S|RNASEL_ENST00000444138.1_Missense_Mutation_p.F539S	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	539	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.F539S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CAGATCCTCAAATGAGATGCT	0.433																																																1	Substitution - Missense(1)	kidney(1)											167	155	159					1																	182551344		2203	4300	6503	SO:0001583	missense	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1616T>C	1.37:g.182551344A>G	ENSP00000356530:p.Phe539Ser		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456291	0.63401	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.27402	1.67;1.67;1.67	5.1	3.93	0.45458	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.321960	0.27000	N	0.021431	T	0.63331	0.2502	H	0.94771	3.58	0.29047	N	0.884745	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.65471	-0.6160	10	0.66056	D	0.02	-12.9723	9.9535	0.41653	0.8291:0.1709:0.0:0.0	.	539;539	Q6AI46;Q05823	.;RN5A_HUMAN	S	539	ENSP00000356530:F539S;ENSP00000411147:F539S;ENSP00000440844:F539S	ENSP00000356530:F539S	F	-	2	0	RNASEL	180817967	1.000000	0.71417	0.786000	0.31890	0.034000	0.12701	4.626000	0.61269	0.842000	0.35045	0.528000	0.53228	TTT		0.433	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		G	182551344	A	G	182551344	3	3	179	1	0	0	0	0	1	0	0	0	13422	14	1	3	625	3	RNASEL	1	182551344	Missense_Mutation	SNP	A	TCGA-B0-5094-01A-01D-1421-08	13160086	182551344	66699277	8	10381											
LAMC2	3918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183194784	183194784	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:183194784G>C	ENST00000264144.4	+	8	1060	c.995G>C	c.(994-996)aGt>aCt	p.S332T	LAMC2_ENST00000493293.1_Missense_Mutation_p.S332T	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	332	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.S332T(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCCCAGCTGAGTTACTTTGAG	0.398																																																1	Substitution - Missense(1)	kidney(1)											109	119	116					1																	183194784		2203	4300	6503	SO:0001583	missense	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.995G>C	1.37:g.183194784G>C	ENSP00000264144:p.Ser332Thr		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398930	0.42512	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.31769	1.48;1.48	5.06	5.06	0.68205	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	0.062104	0.64402	D	0.000004	T	0.42108	0.1188	L	0.41079	1.255	0.52501	D	0.999951	D;D;D	0.69078	0.991;0.997;0.989	D;D;P	0.71870	0.926;0.975;0.879	T	0.08953	-1.0697	10	0.21540	T	0.41	.	12.3121	0.54933	0.0886:0.0:0.9114:0.0	.	332;332;332	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	T	332	ENSP00000432063:S332T;ENSP00000264144:S332T	ENSP00000264144:S332T	S	+	2	0	LAMC2	181461407	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.926000	0.56491	2.336000	0.79503	0.655000	0.94253	AGT		0.398	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		C	183194784	G	C	183194784	3	2	179	1	0	0	0	0	1	0	0	0	8617	1029	36	4	1025	4	LAMC2	1	183194784	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	643440	183194784	66055837	9	10382											
SERTAD4	56256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	210412917	210412917	+	Silent	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:210412917G>A	ENST00000367012.3	+	3	485	c.255G>A	c.(253-255)gaG>gaA	p.E85E	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	85						nucleus (GO:0005634)		p.E85E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGGAAGAAGAGGATTTTCACC	0.328																																																1	Substitution - coding silent(1)	kidney(1)											94	101	99					1																	210412917		2203	4300	6503	SO:0001819	synonymous_variant	56256			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.255G>A	1.37:g.210412917G>A			B2RD32	Silent	SNP	ENST00000367012.3	37	CCDS1494.1																																																																																				0.328	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		A	210412917	G	A	210412917	2	1	179	1	0	0	0	0	0	0	0	1	14129	991	35	2		2	SERTAD4	1	210412917	Silent	SNP	G	TCGA-B0-5094-01A-01D-1421-08	27218133	210412917	38837704	10	10383											
USH2A	7399	broad.mit.edu;hgsc.bcm.edu	37	1	216595423	216595423	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:216595423G>T	ENST00000307340.3	-	2	642	c.256C>A	c.(256-258)Cag>Aag	p.Q86K	USH2A_ENST00000366943.2_Missense_Mutation_p.Q86K|USH2A_ENST00000366942.3_Missense_Mutation_p.Q86K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	86					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q86K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGCAATCCTGAATACAAAAC	0.493										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	kidney(1)											115	108	111					1																	216595423		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.256C>A	1.37:g.216595423G>T	ENSP00000305941:p.Gln86Lys		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504454	0.96371	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.19532	2.56;2.55;2.14	5.27	5.27	0.74061	.	0.000000	0.40554	U	0.001072	T	0.49372	0.1553	M	0.74258	2.255	0.54753	D	0.999989	D;D	0.76494	0.999;0.997	D;D	0.77004	0.96;0.989	T	0.52660	-0.8546	10	0.87932	D	0	.	18.8833	0.92365	0.0:0.0:1.0:0.0	.	86;86	O75445-2;O75445	.;USH2A_HUMAN	K	86	ENSP00000305941:Q86K;ENSP00000355910:Q86K;ENSP00000355909:Q86K	ENSP00000305941:Q86K	Q	-	1	0	USH2A	214662046	1.000000	0.71417	0.946000	0.38457	0.661000	0.39034	7.703000	0.84585	2.463000	0.83235	0.591000	0.81541	CAG		0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216595423	G	T	216595423	3	4	179	1	0	0	0	0	1	0	0	0	17041	1299	45	4	15650	4	USH2A	1	216595423	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	6182506	216595423	32655198	11	10384											
GJC2	57165	broad.mit.edu	37	1	228346349	228346349	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr1:228346349C>T	ENST00000366714.2	+	2	1065	c.890C>T	c.(889-891)gCg>gTg	p.A297V		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	297					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)	p.A297V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GCGCAGGACGCGGTGCGCGGC	0.761																																																1	Substitution - Missense(1)	kidney(1)											26	28	27					1																	228346349		2201	4295	6496	SO:0001583	missense	57165			AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.890C>T	1.37:g.228346349C>T	ENSP00000355675:p.Ala297Val		O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670487	0.47781	.	.	ENSG00000198835	ENST00000366714	D	0.98192	-4.78	3.8	3.8	0.43715	.	0.075445	0.52532	D	0.000062	D	0.94584	0.8255	L	0.32530	0.975	0.48288	D	0.999621	P	0.37914	0.611	B	0.24006	0.05	D	0.94524	0.7730	10	0.36615	T	0.2	.	15.8635	0.79043	0.0:1.0:0.0:0.0	.	297	Q5T442	CXG2_HUMAN	V	297	ENSP00000355675:A297V	ENSP00000355675:A297V	A	+	2	0	GJC2	226412972	0.736000	0.28164	0.929000	0.37066	0.636000	0.38137	1.867000	0.39499	1.966000	0.57179	0.484000	0.47621	GCG		0.761	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		T	228346349	C	T	228346349	3	4	179	1	0	0	0	0	1	0	0	0	6417	768	27	1	892	1	GJC2	1	228346349	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	11750926	228346349	20904272	12	10385											
CPSF3	51692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	9588441	9588441	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr2:9588441G>A	ENST00000238112.3	+	11	1563	c.1357G>A	c.(1357-1359)Gca>Aca	p.A453T	CPSF3_ENST00000460593.1_Missense_Mutation_p.A416T	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	453					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.A453T(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GAATACAGAAGCAGTGACCTT	0.393																																					Colon(194;1259 2048 3845 5218 19985)											1	Substitution - Missense(1)	kidney(1)											80	78	79					2																	9588441		2203	4300	6503	SO:0001583	missense	51692			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1357G>A	2.37:g.9588441G>A	ENSP00000238112:p.Ala453Thr		O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890042	0.52014	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000427001;ENST00000460593	T;T	0.37235	1.21;1.21	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	N	0.14661	0.345	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.004;0.004	T	0.10291	-1.0636	10	0.05833	T	0.94	-18.3887	19.14	0.93444	0.0:0.0:1.0:0.0	.	404;453	E7ER23;Q9UKF6	.;CPSF3_HUMAN	T	453;175;404;416	ENSP00000238112:A453T;ENSP00000418957:A416T	ENSP00000238112:A453T	A	+	1	0	CPSF3	9505892	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.813000	0.99286	2.589000	0.87451	0.655000	0.94253	GCA		0.393	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		A	9588441	G	A	9588441	3	1	179	1	0	0	0	0	1	0	0	0	3828	971	34	2	1399	2	CPSF3	2	9588441	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08		9588441	233610932	13	10386											
LOXL3	84695	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74763177	74763177	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr2:74763177A>C	ENST00000264094.3	-	7	1265	c.1194T>G	c.(1192-1194)caT>caG	p.H398Q	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.H398Q|LOXL3_ENST00000393937.2_Missense_Mutation_p.H253Q|LOXL3_ENST00000409986.1_Missense_Mutation_p.H253Q	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	398	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.H398Q(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CATCCTGGCTATGTGAACAAT	0.557																																																1	Substitution - Missense(1)	kidney(1)											98	97	97					2																	74763177		2203	4300	6503	SO:0001583	missense	84695			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1194T>G	2.37:g.74763177A>C	ENSP00000264094:p.His398Gln		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	CCDS1953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.74|17.74	3.463401|3.463401	0.63513|0.63513	.|.	.|.	ENSG00000115318|ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986|ENST00000420535	T;T;T;T|.	0.33654|.	1.4;1.4;1.4;1.4|.	5.09|5.09	-5.76|-5.76	0.02376|0.02376	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85852|.	0.5793|.	H|H	0.98256|0.98256	4.185|4.185	0.38839|0.38839	D|D	0.956029|0.956029	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.97110|.	0.999;1.0;0.998;0.997|.	D|.	0.88748|.	0.3248|.	10|.	0.87932|.	D|.	0|.	.|.	14.4136|14.4136	0.67135|0.67135	0.3863:0.0:0.6137:0.0|0.3863:0.0:0.6137:0.0	.|.	253;398;253;398|.	B9A025;E7END4;Q6IPL7;P58215|.	.;.;.;LOXL3_HUMAN|.	Q|E	398;253;398;253|125	ENSP00000264094:H398Q;ENSP00000377512:H253Q;ENSP00000386696:H398Q;ENSP00000386545:H253Q|.	ENSP00000264094:H398Q|.	H|X	-|-	3|1	2|0	LOXL3|LOXL3	74616685|74616685	0.008000|0.008000	0.16893|0.16893	0.883000|0.883000	0.34634|0.34634	0.829000|0.829000	0.46940|0.46940	0.053000|0.053000	0.14184|0.14184	-1.070000|-1.070000	0.03149|0.03149	0.450000|0.450000	0.29827|0.29827	CAT|TAG		0.557	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		C	74763177	A	C	74763177	3	2	179	1	0	0	0	0	1	0	0	0	8903	446	16	5	1099	5	LOXL3	2	74763177	Missense_Mutation	SNP	A	TCGA-B0-5094-01A-01D-1421-08	65174736	74763177	168436196	14	10387											
RAB3GAP1	22930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	135926185	135926185	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr2:135926185C>A	ENST00000264158.8	+	24	2823	c.2780C>A	c.(2779-2781)tCc>tAc	p.S927Y	RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S934Y|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S883Y	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	927					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.S927Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGGCAGAACTCCGTGTCAGAC	0.542																																																1	Substitution - Missense(1)	kidney(1)											85	82	83					2																	135926185		2203	4300	6503	SO:0001583	missense	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2780C>A	2.37:g.135926185C>A	ENSP00000264158:p.Ser927Tyr		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	C	9.635	1.137516	0.21123	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.48522	0.82;0.81;0.84	5.92	2.07	0.26955	.	0.875793	0.10341	N	0.686255	T	0.43612	0.1255	L	0.58101	1.795	0.09310	N	1	B;B	0.32128	0.357;0.303	B;B	0.33890	0.13;0.172	T	0.37384	-0.9708	10	0.59425	D	0.04	3.9413	6.9154	0.24357	0.0:0.6188:0.1166:0.2646	.	934;927	C9J837;Q15042	.;RB3GP_HUMAN	Y	927;883;934	ENSP00000264158:S927Y;ENSP00000444306:S883Y;ENSP00000411418:S934Y	ENSP00000264158:S927Y	S	+	2	0	RAB3GAP1	135642655	0.000000	0.05858	0.002000	0.10522	0.652000	0.38707	0.126000	0.15769	0.097000	0.17492	-0.150000	0.13652	TCC		0.542	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		A	135926185	C	A	135926185	3	1	179	1	0	0	0	0	1	0	0	0	12941	855	30	4	2899	4	RAB3GAP1	2	135926185	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	61163008	135926185	107273188	15	10388											
EVX2	344191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	176948341	176948341	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr2:176948341G>A	ENST00000308618.4	-	1	300	c.164C>T	c.(163-165)tCt>tTt	p.S55F		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	55					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S55F(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CAGGGGGGCAGACGGCAGGCG	0.602																																																1	Substitution - Missense(1)	kidney(1)											38	44	42					2																	176948341		2203	4300	6503	SO:0001583	missense	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.164C>T	2.37:g.176948341G>A	ENSP00000312385:p.Ser55Phe			Missense_Mutation	SNP	ENST00000308618.4	37	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835828	0.71373	.	.	ENSG00000174279	ENST00000308618	D	0.92299	-3.01	5.44	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.93022	0.7779	L	0.49126	1.545	0.58432	D	0.999993	D	0.67145	0.996	P	0.56700	0.804	D	0.93574	0.6906	10	0.72032	D	0.01	-25.3773	14.205	0.65728	0.0715:0.0:0.9285:0.0	.	55	Q03828	EVX2_HUMAN	F	55	ENSP00000312385:S55F	ENSP00000312385:S55F	S	-	2	0	EVX2	176656587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.446000	0.80609	1.526000	0.49068	0.655000	0.94253	TCT		0.602	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			A	176948341	G	A	176948341	3	1	179	1	0	0	0	0	1	0	0	0	5297	942	33	2	1276	2	EVX2	2	176948341	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	41022156	176948341	66251032	16	10389											
TTN	7273	broad.mit.edu;hgsc.bcm.edu	37	2	179441300	179441300	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr2:179441300G>A	ENST00000591111.1	-	275	64972	c.64748C>T	c.(64747-64749)cCa>cTa	p.P21583L	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14159L|TTN_ENST00000342992.6_Missense_Mutation_p.P20656L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14284L|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P23224L|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14351L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21583	Fibronectin type-III 56. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P20656L(1)|p.P20654L(1)|p.P14284L(1)|p.P14159L(1)|p.P14351L(1)		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)			CTCACTGGGTGGACCAATTCC	0.428																																																5	Substitution - Missense(5)	kidney(5)											154	151	152					2																	179441300		1943	4137	6080	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64748C>T	2.37:g.179441300G>A	ENSP00000465570:p.Pro21583Leu		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	10.92	1.487207	0.26686	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.72	3.91	0.45181	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44644	0.1303	N	0.25485	0.75	0.51233	D	0.999918	B;B;B;B	0.15141	0.012;0.012;0.012;0.007	B;B;B;B	0.14578	0.011;0.011;0.011;0.007	T	0.37478	-0.9704	9	0.87932	D	0	.	11.3934	0.49827	0.0657:0.0:0.8077:0.1266	.	14159;14284;14351;21583	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	20656;14159;14351;14284;14157	ENSP00000343764:P20656L;ENSP00000434586:P14159L;ENSP00000340554:P14351L;ENSP00000352154:P14284L	ENSP00000340554:P14351L	P	-	2	0	TTN	179149546	1.000000	0.71417	0.155000	0.22561	0.917000	0.54804	6.053000	0.71089	0.867000	0.35654	0.655000	0.94253	CCA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179441300	G	A	179441300	3	1	179	1	0	0	0	0	1	0	0	0	16740	1348	47	2	38460	2	TTN	2	179441300	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	2492959	179441300	63758073	17	10390											
CRYGB	1419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	209007477	209007477	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr2:209007477G>C	ENST00000260988.4	-	3	460	c.413C>G	c.(412-414)cCc>cGc	p.P138R		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	138	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.P138R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCTGTAGTTGGGCATCTCATA	0.547																																																1	Substitution - Missense(1)	kidney(1)											104	103	103					2																	209007477		2203	4300	6503	SO:0001583	missense	1419				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"crystallin, gamma 1-2"	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.413C>G	2.37:g.209007477G>C	ENSP00000260988:p.Pro138Arg		Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364487	0.82463	.	.	ENSG00000182187	ENST00000260988	T	0.79454	-1.27	4.73	4.73	0.59995	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.050350	0.85682	D	0.000000	D	0.92296	0.7556	H	0.98682	4.3	0.80722	D	1	D	0.61080	0.989	D	0.66847	0.947	D	0.94916	0.8069	10	0.87932	D	0	.	15.5827	0.76459	0.0:0.0:1.0:0.0	.	138	P07316	CRGB_HUMAN	R	138	ENSP00000260988:P138R	ENSP00000260988:P138R	P	-	2	0	CRYGB	208715722	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.306000	0.65756	2.614000	0.88457	0.561000	0.74099	CCC		0.547	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		C	209007477	G	C	209007477	3	2	179	1	0	0	0	0	1	0	0	0	3917	1232	43	4	118	4	CRYGB	2	209007477	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	29566177	209007477	34191896	18	10391											
PASK	23178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	242063382	242063382	+	Silent	SNP	G	G	C	rs533568232		TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr2:242063382G>C	ENST00000405260.1	-	11	3584	c.2886C>G	c.(2884-2886)acC>acG	p.T962T	PASK_ENST00000544142.1_Silent_p.T776T|PASK_ENST00000358649.4_Silent_p.T962T|PASK_ENST00000403638.3_Silent_p.T962T|PASK_ENST00000234040.4_Silent_p.T962T|PASK_ENST00000539818.1_Silent_p.T746T	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	962					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)	p.T962T(2)		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)		GGCTGGGTCCGGTGAGCTCAG	0.587																																																2	Substitution - coding silent(2)	kidney(2)											52	54	53					2																	242063382		2203	4300	6503	SO:0001819	synonymous_variant	23178			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.2886C>G	2.37:g.242063382G>C			G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	CCDS2545.1																																																																																				0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		C	242063382	G	C	242063382	2	2	179	1	0	0	0	0	0	0	0	1	11474	1103	39	4		4	PASK	2	242063382	Silent	SNP	G	TCGA-B0-5094-01A-01D-1421-08	33055905	242063382	1135991	19	10392											
ALS2CL	259173	broad.mit.edu;ucsc.edu	37	3	46721931	46721931	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr3:46721931C>A	ENST00000318962.4	-	14	1620	c.1537G>T	c.(1537-1539)Gac>Tac	p.D513Y	ALS2CL_ENST00000415953.1_Missense_Mutation_p.D513Y	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	513					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D513Y(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACCGTCTTGTCCGCCTGGAAG	0.642																																																1	Substitution - Missense(1)	kidney(1)											111	105	107					3																	46721931		2203	4300	6503	SO:0001583	missense	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1537G>T	3.37:g.46721931C>A	ENSP00000313670:p.Asp513Tyr		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149116	0.37923	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.50001	0.76;0.76	4.77	4.77	0.60923	.	0.080274	0.52532	D	0.000080	T	0.72137	0.3423	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.77332	-0.2627	10	0.87932	D	0	.	8.8379	0.35123	0.0:0.8997:0.0:0.1003	.	513	Q60I27	AL2CL_HUMAN	Y	513	ENSP00000313670:D513Y;ENSP00000413223:D513Y	ENSP00000313670:D513Y	D	-	1	0	ALS2CL	46696935	0.998000	0.40836	0.963000	0.40424	0.043000	0.13939	3.696000	0.54757	2.473000	0.83533	0.462000	0.41574	GAC		0.642	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		A	46721931	C	A	46721931	3	1	179	1	0	0	0	0	1	0	0	0	551	855	30	4	1376	4	ALS2CL	3	46721931	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08		46721931	151300499	20	10393											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52588877	52588877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr3:52588877delG	ENST00000296302.7	-	27	4473	c.4472delC	c.(4471-4473)ccgfs	p.P1492fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.P1405fs|PBRM1_ENST00000409114.3_Intron|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.P1412fs|PBRM1_ENST00000409767.1_Intron|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Intron|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.P1437fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.P1385fs|RNU6-856P_ENST00000516959.1_RNA			Q86U86	PB1_HUMAN	polybromo 1	1492	Pro-rich.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAGGCCTGGCGGATAGCCACC	0.537			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													53	53	53					3																	52588877		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4472delC	3.37:g.52588877delG	ENSP00000296302:p.Pro1492fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.537	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52588877	G	-	52588877	7	5	179	1	0	1	0	1	0	0	0	0	11493	1116	39	0	613	0	PBRM1	3	52588877	Frame_Shift_Del	DEL	G	TCGA-B0-5094-01A-01D-1421-08	5866946	52588877	145433553	21	10394											
ZBBX	79740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	166958709	166958709	+	Splice_Site	SNP	T	T	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr3:166958709T>A	ENST00000392766.2	-	21	2617		c.e21-2		ZBBX_ENST00000392767.2_Splice_Site|ZBBX_ENST00000307529.5_Splice_Site|ZBBX_ENST00000455345.2_Splice_Site|ZBBX_ENST00000392764.1_Splice_Site	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing							intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.?(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CCAGAACAGCTGAAAATACAT	0.383																																																2	Unknown(2)	kidney(2)											110	99	102					3																	166958709		1880	4121	6001	SO:0001630	splice_region_variant	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2277-2A>T	3.37:g.166958709T>A			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Splice_Site	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	11.11	1.540998	0.27563	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	5.21	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2606	0.31781	0.1764:0.0:0.0:0.8236	.	.	.	.	.	-1	.	.	.	-	.	.	ZBBX	168441403	0.999000	0.42202	1.000000	0.80357	0.331000	0.28603	1.911000	0.39937	1.050000	0.40346	0.455000	0.32223	.		0.383	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	Intron	A	166958709	T	A	166958709	5	1	179	1	0	0	0	0	0	0	1	0	17521	1594	55	5	131	5	ZBBX	3	166958709	Splice_Site	SNP	T	TCGA-B0-5094-01A-01D-1421-08	114369832	166958709	31063721	22	10395											
ACOX3	8310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8394072	8394072	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr4:8394072C>T	ENST00000356406.5	-	11	1365	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S	RNA5SP152_ENST00000365184.1_RNA|ACOX3_ENST00000413009.2_Missense_Mutation_p.G430S|ACOX3_ENST00000503233.1_Missense_Mutation_p.G430S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	430					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.G430S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCCAGATAGCCGTGTCCTCCA	0.617																																																1	Substitution - Missense(1)	kidney(1)											164	168	166					4																	8394072		2203	4300	6503	SO:0001583	missense	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1288G>A	4.37:g.8394072C>T	ENSP00000348775:p.Gly430Ser		Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890167	0.91889	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.97114	-4.25;-4.25;-4.25	4.14	4.14	0.48551	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98855	1.0760	10	0.87932	D	0	-40.071	15.3608	0.74472	0.0:1.0:0.0:0.0	.	430;430;430	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	S	430	ENSP00000413994:G430S;ENSP00000348775:G430S;ENSP00000421625:G430S	ENSP00000348775:G430S	G	-	1	0	ACOX3	8444972	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.558000	0.73942	2.143000	0.66587	0.655000	0.94253	GGC		0.617	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			T	8394072	C	T	8394072	3	4	179	1	0	0	0	0	1	0	0	0	160	652	23	1	846	1	ACOX3	4	8394072	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08		8394072	182760204	23	10396											
TLR6	10333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	38830418	38830418	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr4:38830418G>T	ENST00000381950.1	-	1	742	c.677C>A	c.(676-678)aCt>aAt	p.T226N	TLR6_ENST00000436693.2_Missense_Mutation_p.T226N			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	226					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T226N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAATATTAGTCAGTTGTAA	0.333																																																1	Substitution - Missense(1)	kidney(1)											46	52	50					4																	38830418		2199	4300	6499	SO:0001583	missense	10333				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.677C>A	4.37:g.38830418G>T	ENSP00000371376:p.Thr226Asn		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759756	0.31137	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.08458	3.09;3.09	5.6	2.81	0.32909	.	0.444384	0.22932	N	0.053884	T	0.13670	0.0331	M	0.72894	2.215	0.21604	N	0.999623	B	0.29716	0.255	B	0.29598	0.104	T	0.09079	-1.0691	10	0.72032	D	0.01	.	16.3266	0.82986	0.0:0.36:0.64:0.0	.	226	Q9Y2C9	TLR6_HUMAN	N	226	ENSP00000389600:T226N;ENSP00000371376:T226N	ENSP00000371376:T226N	T	-	2	0	TLR6	38506813	0.937000	0.31787	0.999000	0.59377	0.905000	0.53344	1.189000	0.32114	0.257000	0.21650	0.491000	0.48974	ACT		0.333	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			T	38830418	G	T	38830418	3	4	179	1	0	0	0	0	1	0	0	0	15960	1029	36	4	1717	4	TLR6	4	38830418	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	30436346	38830418	152323858	24	10397											
RFC1	5981	hgsc.bcm.edu;ucsc.edu	37	4	39328257	39328258	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr4:39328257_39328258delAA	ENST00000381897.1	-	6	700_701	c.567_568delTT	c.(565-570)ctttcafs	p.S190fs	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Frame_Shift_Del_p.S190fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	190					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTATTTTGTGAAAGCTATATTT	0.347																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											0																																										SO:0001589	frameshift_variant	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.567_568delTT	4.37:g.39328257_39328258delAA	ENSP00000371321:p.Ser190fs		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Frame_Shift_Del	DEL	ENST00000381897.1	37	CCDS56329.1																																																																																				0.347	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		-	39328258	AA	-	39328257	7	5	179	1	0	1	0	1	0	0	0	0	13250	246	9	0	2955	0	RFC1	4	39328257	Frame_Shift_Del	DEL	AA	TCGA-B0-5094-01A-01D-1421-08	497839	39328257	151826019	25	10398											
RUFY3	22902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71634345	71634345	+	Missense_Mutation	SNP	T	T	G	rs372261834		TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr4:71634345T>G	ENST00000226328.4	+	5	1226	c.663T>G	c.(661-663)aaT>aaG	p.N221K	RUFY3_ENST00000536664.1_Missense_Mutation_p.N205K|RUFY3_ENST00000417478.2_Missense_Mutation_p.N281K|RUFY3_ENST00000381006.3_Missense_Mutation_p.N221K|RUFY3_ENST00000502653.1_Missense_Mutation_p.N168K	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	221	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)		p.N221K(2)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TTGATGCCAATTTCTGTATGA	0.443																																																2	Substitution - Missense(2)	kidney(2)											207	195	199					4																	71634345		2203	4300	6503	SO:0001583	missense	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.663T>G	4.37:g.71634345T>G	ENSP00000226328:p.Asn221Lys		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992379	0.74703	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	5.63	1.56	0.23342	RUN (3);	0.000000	0.85682	D	0.000000	T	0.34279	0.0892	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.975;0.99	D;D;P;P	0.64410	0.914;0.925;0.712;0.773	T	0.05007	-1.0912	9	.	.	.	-18.5015	9.4323	0.38617	0.0:0.3217:0.0:0.6783	.	205;221;221;281	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	K	281;221;221;205;157;168	ENSP00000399771:N281K;ENSP00000370394:N221K;ENSP00000226328:N221K;ENSP00000443652:N205K;ENSP00000425574:N157K;ENSP00000425400:N168K	.	N	+	3	2	RUFY3	71853209	0.935000	0.31712	0.999000	0.59377	0.994000	0.84299	0.013000	0.13310	0.050000	0.15949	0.455000	0.32223	AAT		0.443	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		G	71634345	T	G	71634345	3	3	179	1	0	0	0	0	1	0	0	0	13746	1490	52	5	1043	5	RUFY3	4	71634345	Missense_Mutation	SNP	T	TCGA-B0-5094-01A-01D-1421-08	32306088	71634345	119519931	26	10399											
DMGDH	29958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	78359437	78359437	+	Splice_Site	SNP	G	G	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr5:78359437G>T	ENST00000255189.3	-	2	303	c.275C>A	c.(274-276)gCa>gAa	p.A92E	DMGDH_ENST00000380311.4_Splice_Site_p.R47R|DMGDH_ENST00000540686.1_Splice_Site_p.Q18K|DMGDH_ENST00000520388.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	92					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.A92E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTTCTTACTGCGTGCCAGGT	0.493																																																1	Substitution - Missense(1)	kidney(1)											173	158	163					5																	78359437		2203	4300	6503	SO:0001630	splice_region_variant	29958			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.276+1C>A	5.37:g.78359437G>T			B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.935941|3.935941	0.73442|0.73442	.|.	.|.	ENSG00000132837|ENSG00000132837	ENST00000255189|ENST00000540686	D|T	0.82803|0.28666	-1.65|1.6	5.52|5.52	5.52|5.52	0.82312|0.82312	FAD dependent oxidoreductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47746|0.47746	0.1462|0.1462	M|M	0.90483|0.90483	3.12|3.12	0.33986|0.33986	D|D	0.648532|0.648532	D|B	0.76494|0.02656	0.999|0.0	D|B	0.77004|0.01281	0.989|0.0	T|T	0.59862|0.59862	-0.7374|-0.7374	10|9	0.87932|0.66056	D|D	0|0.02	.|.	19.7963|19.7963	0.96484|0.96484	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	92|18	Q9UI17|B4E1J9	M2GD_HUMAN|.	E|K	92|18	ENSP00000255189:A92E|ENSP00000439478:Q18K	ENSP00000255189:A92E|ENSP00000439478:Q18K	A|Q	-|-	2|1	0|0	DMGDH|DMGDH	78395193|78395193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	9.662000|9.662000	0.98603|0.98603	2.756000|2.756000	0.94617|0.94617	0.561000|0.561000	0.74099|0.74099	GCA|CAA		0.493	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	Missense_Mutation	T	78359437	G	T	78359437	5	4	179	1	0	0	0	0	0	0	1	0	4583	1333	46	4	2385	4	DMGDH	5	78359437	Splice_Site	SNP	G	TCGA-B0-5094-01A-01D-1421-08		78359437	102555823	27	10400											
RASA1	5921	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	86674302	86674302	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr5:86674302C>T	ENST00000274376.6	+	18	2998	c.2434C>T	c.(2434-2436)Cat>Tat	p.H812Y	RASA1_ENST00000456692.2_Missense_Mutation_p.H635Y|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.H645Y|RASA1_ENST00000506290.1_Missense_Mutation_p.H646Y	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	812	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.H635Y(1)|p.H812Y(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTTTGTTCATCATGCTTTGAA	0.348																																																2	Substitution - Missense(2)	kidney(2)											92	85	87					5																	86674302		2203	4300	6503	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2434C>T	5.37:g.86674302C>T	ENSP00000274376:p.His812Tyr		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818330	0.71028	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.13	5.13	0.70059	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	N	0.25890	0.77	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.995;0.996	P;P;P;P;P	0.61070	0.883;0.823;0.883;0.814;0.77	T	0.01697	-1.1293	10	0.42905	T	0.14	.	18.9448	0.92618	0.0:1.0:0.0:0.0	.	646;645;646;635;812	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	Y	812;845;635;645;646	ENSP00000274376:H812Y;ENSP00000411221:H635Y;ENSP00000422008:H645Y;ENSP00000420905:H646Y	ENSP00000274376:H812Y	H	+	1	0	RASA1	86710058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.009000	0.70745	2.545000	0.85829	0.561000	0.74099	CAT		0.348	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		T	86674302	C	T	86674302	3	4	179	1	0	0	0	0	1	0	0	0	13066	826	29	2	2516	2	RASA1	5	86674302	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	8314865	86674302	94240958	28	10401											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56484745	56484745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr6:56484745C>A	ENST00000370765.6	-	23	4194	c.4087G>T	c.(4087-4089)Gaa>Taa	p.E1363*	DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0				K -> E (in Ref. 3; AAL62061). {ECO:0000305}.	axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E1363*(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTTGAGTTCTTCTGCTTTC	0.453																																																2	Substitution - Nonsense(2)	kidney(2)											187	173	178					6																	56484745		2203	4300	6503	SO:0001587	stop_gained	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4087G>T	6.37:g.56484745C>A	ENSP00000359801:p.Glu1363*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	38	6.762614	0.97821	.	.	ENSG00000151914	ENST00000370765	.	.	.	4.19	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	6.0914	0.19997	0.0:0.6765:0.1552:0.1684	.	.	.	.	X	1363	.	ENSP00000359801:E1363X	E	-	1	0	DST	56592704	0.677000	0.27577	0.013000	0.15412	0.472000	0.32918	1.771000	0.38542	0.410000	0.25675	-0.262000	0.10625	GAA		0.453	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		A	56484745	C	A	56484745	4	1	179	1	0	0	0	0	0	1	0	0	4785	922	32	4	16316	4	DST	6	56484745	Nonsense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08		56484745	114630322	29	10402											
DOPEY1	23033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	83838711	83838711	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr6:83838711C>G	ENST00000349129.2	+	16	2085	c.1825C>G	c.(1825-1827)Caa>Gaa	p.Q609E	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q600E|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q590E	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	609					protein transport (GO:0015031)			p.Q609E(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TATACAATATCAAGCAGACCG	0.443																																																1	Substitution - Missense(1)	kidney(1)											113	117	116					6																	83838711		2203	4300	6503	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1825C>G	6.37:g.83838711C>G	ENSP00000195654:p.Gln609Glu		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504021	0.44558	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.22743	1.96;1.94	5.66	5.66	0.87406	.	0.239734	0.34986	N	0.003526	T	0.19565	0.0470	L	0.59436	1.845	0.80722	D	1	P;P;P	0.45531	0.86;0.495;0.495	B;B;B	0.42851	0.4;0.106;0.106	T	0.01484	-1.1343	10	0.54805	T	0.06	.	19.7324	0.96188	0.0:1.0:0.0:0.0	.	500;600;609	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	E	609;590;590	ENSP00000195654:Q609E;ENSP00000237163:Q590E	ENSP00000237163:Q590E	Q	+	1	0	DOPEY1	83895430	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.294000	0.78760	2.663000	0.90544	0.655000	0.94253	CAA		0.443	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		G	83838711	C	G	83838711	3	3	179	1	0	0	0	0	1	0	0	0	4709	827	29	4	1879	4	DOPEY1	6	83838711	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	27353966	83838711	87276356	30	10403											
THBS2	7058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	169634969	169634969	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr6:169634969G>A	ENST00000366787.3	-	11	1760	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	504	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.S504L(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGTGCAGGCCGACCACGGGGA	0.682																																					Esophageal Squamous(91;219 1934 18562 44706)											1	Substitution - Missense(1)	kidney(1)											35	39	37					6																	169634969		2202	4299	6501	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1511C>T	6.37:g.169634969G>A	ENSP00000355751:p.Ser504Leu		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552634	0.65425	.	.	ENSG00000186340	ENST00000366787	T	0.64085	-0.08	4.38	3.47	0.39725	.	0.000000	0.37857	U	0.001920	T	0.62925	0.2468	H	0.96430	3.82	0.36815	D	0.886111	P	0.43826	0.818	B	0.39379	0.298	T	0.73170	-0.4067	10	0.46703	T	0.11	-15.7638	13.5042	0.61476	0.0:0.0:0.8423:0.1577	.	504	P35442	TSP2_HUMAN	L	504	ENSP00000355751:S504L	ENSP00000355751:S504L	S	-	2	0	THBS2	169376894	1.000000	0.71417	0.645000	0.29479	0.668000	0.39293	5.066000	0.64351	0.907000	0.36646	0.590000	0.80494	TCG		0.682	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		A	169634969	G	A	169634969	3	1	179	1	0	0	0	0	1	0	0	0	15859	1059	37	1	2059	1	THBS2	6	169634969	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	85796258	169634969	1480098	31	10404											
DFNA5	1687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	24758693	24758693	+	Silent	SNP	G	G	A	rs367647197		TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr7:24758693G>A	ENST00000342947.3	-	4	974	c.549C>T	c.(547-549)atC>atT	p.I183I	DFNA5_ENST00000409775.3_Silent_p.I183I|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_Silent_p.I19I|DFNA5_ENST00000409970.1_Silent_p.I19I|DFNA5_ENST00000545231.1_Silent_p.I19I	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	183					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)		p.I183I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGATGCCCACGATGCCACCAC	0.577																																					GBM(78;184 1250 20134 20900 23600)											1	Substitution - coding silent(1)	kidney(1)						G	,,	0,4406		0,0,2203	235	185	202		549,57,549	0	1	7		202	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DFNA5	NM_001127453.1,NM_001127454.1,NM_004403.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	183/497,19/333,183/497	24758693	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1687			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.549C>T	7.37:g.24758693G>A			A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	G	2.157	-0.393120	0.04899	0.0	1.16E-4	ENSG00000105928	ENST00000446822	.	.	.	5.17	0.0276	0.14155	.	.	.	.	.	T	0.51381	0.1671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37709	-0.9694	4	.	.	.	-5.0276	6.1498	0.20306	0.0:0.2849:0.4752:0.24	.	.	.	.	L	8	.	.	S	-	2	0	DFNA5	24725218	0.000000	0.05858	0.968000	0.41197	0.033000	0.12548	-0.102000	0.10956	-0.059000	0.13154	-0.147000	0.13772	TCG		0.577	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		A	24758693	G	A	24758693	2	1	179	1	0	0	0	0	0	0	0	1	4456	1048	37	1		1	DFNA5	7	24758693	Silent	SNP	G	TCGA-B0-5094-01A-01D-1421-08		24758693	134379970	32	10405											
CDK14	5218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	90355879	90355879	+	Splice_Site	SNP	A	A	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr7:90355879A>T	ENST00000380050.3	+	3	254		c.e3-1		CDK14_ENST00000265741.3_Splice_Site|CDK14_ENST00000406263.1_Splice_Site|CDK14_ENST00000496279.1_Splice_Site|CDK14_ENST00000436577.2_Splice_Site			O94921	CDK14_HUMAN	cyclin-dependent kinase 14						cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.?(2)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTCTTTTCTCAGATATGTGTC	0.378																																					GBM(83;1228 1256 8311 16577 31299)											2	Unknown(2)	kidney(2)											60	57	58					7																	90355879		2203	4299	6502	SO:0001630	splice_region_variant	5218				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.124-1A>T	7.37:g.90355879A>T			A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Splice_Site	SNP	ENST00000380050.3	37		.	.	.	.	.	.	.	.	.	.	A	15.94	2.982254	0.53827	.	.	ENSG00000058091	ENST00000380050;ENST00000265741	.	.	.	5.72	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7956	0.57558	0.8632:0.1368:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK14	90193815	1.000000	0.71417	0.979000	0.43373	0.843000	0.47879	8.513000	0.90542	0.949000	0.37715	0.460000	0.39030	.		0.378	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395	Intron	T	90355879	A	T	90355879	5	4	179	1	0	0	0	0	0	0	1	0	3132	202	7	5	74	5	CDK14	7	90355879	Splice_Site	SNP	A	TCGA-B0-5094-01A-01D-1421-08	65597186	90355879	68782784	33	10406											
SLC25A13	10165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	95776002	95776002	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr7:95776002C>T	ENST00000265631.5	-	14	1454	c.1318G>A	c.(1318-1320)Ggc>Agc	p.G440S	SLC25A13_ENST00000542654.1_Missense_Mutation_p.G332S|SLC25A13_ENST00000416240.2_Missense_Mutation_p.G441S			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	440					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.G440S(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ACCTGGGAGCCTCCAGCCTAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											87	100	96					7																	95776002		2203	4300	6503	SO:0001583	missense	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1318G>A	7.37:g.95776002C>T	ENSP00000265631:p.Gly440Ser		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074194	0.94000	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.78707	-1.2;-1.2;-1.2	4.53	3.65	0.41850	Mitochondrial carrier domain (2);	0.061967	0.64402	D	0.000006	D	0.83381	0.5242	L	0.60845	1.875	0.58432	D	0.999998	P;D;P	0.56746	0.907;0.977;0.925	P;P;P	0.62560	0.767;0.904;0.85	D	0.84946	0.0868	10	0.72032	D	0.01	-10.8487	12.8623	0.57920	0.0:0.9212:0.0:0.0788	.	332;441;440	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	S	440;441;332	ENSP00000265631:G440S;ENSP00000400101:G441S;ENSP00000440484:G332S	ENSP00000265631:G440S	G	-	1	0	SLC25A13	95613938	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	1.282000	0.44496	0.655000	0.94253	GGC		0.408	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		T	95776002	C	T	95776002	3	4	179	1	0	0	0	0	1	0	0	0	14481	681	24	2	729	2	SLC25A13	7	95776002	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	5420123	95776002	63362661	34	10407											
MYL10	93408	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	101256829	101256829	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr7:101256829G>A	ENST00000223167.4	-	8	784	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	203	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.P203S(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						ACATCTGGGGGAAATGCTGCA	0.557																																					Esophageal Squamous(24;575 709 17516 40384 51639)											1	Substitution - Missense(1)	kidney(1)											142	122	129					7																	101256829		2203	4300	6503	SO:0001583	missense	93408			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.607C>T	7.37:g.101256829G>A	ENSP00000223167:p.Pro203Ser			Missense_Mutation	SNP	ENST00000223167.4	37	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323596	0.60634	.	.	ENSG00000106436	ENST00000223167	T	0.78364	-1.17	4.84	4.84	0.62591	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	D	0.88097	0.6345	M	0.84082	2.675	0.80722	D	1	D	0.65815	0.995	D	0.68765	0.96	D	0.89708	0.3910	10	0.62326	D	0.03	.	15.5111	0.75782	0.0:0.0:1.0:0.0	.	203	Q9BUA6	MYL10_HUMAN	S	203	ENSP00000223167:P203S	ENSP00000223167:P203S	P	-	1	0	MYL10	101043549	1.000000	0.71417	0.972000	0.41901	0.218000	0.24690	8.740000	0.91579	2.242000	0.73789	0.650000	0.86243	CCC		0.557	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		A	101256829	G	A	101256829	3	1	179	1	0	0	0	0	1	0	0	0	10046	1174	41	2	77	2	MYL10	7	101256829	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	5480827	101256829	57881834	35	10408											
CHRM2	1129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	136700642	136700642	+	Missense_Mutation	SNP	G	G	A	rs201165506		TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr7:136700642G>A	ENST00000445907.2	+	3	1558	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M	CHRM2_ENST00000402486.3_Missense_Mutation_p.V344M|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.V344M|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.V344M|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.V344M|CHRM2_ENST00000320658.5_Missense_Mutation_p.V344M	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	344					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.V344M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TAATACCACCGTGGAGGTAGT	0.463																																																1	Substitution - Missense(1)	kidney(1)											85	86	86					7																	136700642		2203	4300	6503	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1030G>A	7.37:g.136700642G>A	ENSP00000399745:p.Val344Met		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643421	0.47258	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.254272	0.30911	N	0.008630	T	0.57975	0.2090	L	0.39085	1.19	0.80722	D	1	B	0.30193	0.272	B	0.33568	0.166	T	0.56098	-0.8035	10	0.41790	T	0.15	-9.5982	19.1729	0.93588	0.0:0.0:1.0:0.0	.	344	P08172	ACM2_HUMAN	M	344	ENSP00000399745:V344M;ENSP00000415386:V344M;ENSP00000319984:V344M;ENSP00000380733:V344M;ENSP00000384937:V344M;ENSP00000384401:V344M	ENSP00000319984:V344M	V	+	1	0	CHRM2	136351182	1.000000	0.71417	0.953000	0.39169	0.978000	0.69477	9.807000	0.99171	2.541000	0.85698	0.655000	0.94253	GTG		0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			A	136700642	G	A	136700642	3	1	179	1	0	0	0	0	1	0	0	0	3379	1145	40	1	1032	1	CHRM2	7	136700642	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	35443813	136700642	22438021	36	10409											
XKR4	114786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	56436707	56436707	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr8:56436707G>A	ENST00000327381.6	+	3	1974	c.1874G>A	c.(1873-1875)tGt>tAt	p.C625Y		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	625						integral component of membrane (GO:0016021)		p.C625Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTTTTGAATGTTCCCCATCT	0.448																																																1	Substitution - Missense(1)	kidney(1)											116	107	110					8																	56436707		2203	4300	6503	SO:0001583	missense	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1874G>A	8.37:g.56436707G>A	ENSP00000328326:p.Cys625Tyr		Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511550	0.44660	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.82167	-1.58	5.55	4.68	0.58851	.	0.193931	0.56097	N	0.000025	T	0.74891	0.3776	N	0.25647	0.755	0.40316	D	0.97877	B	0.06786	0.001	B	0.04013	0.001	T	0.71965	-0.4433	10	0.72032	D	0.01	-12.3404	14.7196	0.69297	0.0701:0.0:0.9299:0.0	.	625	Q5GH76	XKR4_HUMAN	Y	625	ENSP00000328326:C625Y	ENSP00000328326:C625Y	C	+	2	0	XKR4	56599261	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	4.148000	0.58085	1.353000	0.45828	0.655000	0.94253	TGT		0.448	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		A	56436707	G	A	56436707	3	1	179	1	0	0	0	0	1	0	0	0	17438	1377	48	2	1884	2	XKR4	8	56436707	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08		56436707	89927315	37	10410											
RALYL	138046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	85774642	85774642	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr8:85774642G>A	ENST00000521268.1	+	6	1630	c.525G>A	c.(523-525)atG>atA	p.M175I	RALYL_ENST00000523850.1_Missense_Mutation_p.M102I|RALYL_ENST00000522455.1_Missense_Mutation_p.M175I|RALYL_ENST00000521376.1_Missense_Mutation_p.M86I|RALYL_ENST00000521695.1_Missense_Mutation_p.M175I|RALYL_ENST00000517638.1_Missense_Mutation_p.M188I|RALYL_ENST00000518566.1_Missense_Mutation_p.M164I	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	175							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M175I(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCTTTTCCATGAAAGGTGGAT	0.488																																																2	Substitution - Missense(2)	kidney(2)											69	74	72					8																	85774642		1927	4139	6066	SO:0001583	missense	138046				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.525G>A	8.37:g.85774642G>A	ENSP00000430367:p.Met175Ile		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247933	0.22880	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.16743	2.97;2.97;2.97;2.98;2.96;2.56;2.32	5.1	5.1	0.69264	.	0.355901	0.35179	N	0.003394	T	0.10208	0.0250	N	0.19112	0.55	0.29506	N	0.854598	B;B;B;B;B	0.09022	0.0;0.001;0.002;0.001;0.001	B;B;B;B;B	0.11329	0.002;0.002;0.004;0.006;0.002	T	0.16158	-1.0412	10	0.07990	T	0.79	-10.8077	12.2815	0.54767	0.0784:0.0:0.9216:0.0	.	164;175;102;188;175	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	I	175;175;175;164;188;102;86	ENSP00000430394:M175I;ENSP00000428667:M175I;ENSP00000430367:M175I;ENSP00000430065:M164I;ENSP00000430128:M188I;ENSP00000428807:M102I;ENSP00000428310:M86I	ENSP00000430128:M188I	M	+	3	0	RALYL	85937197	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.195000	0.58400	2.511000	0.84671	0.551000	0.68910	ATG		0.488	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			A	85774642	G	A	85774642	3	1	179	1	0	0	0	0	1	0	0	0	13026	1290	45	2	586	2	RALYL	8	85774642	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	29337935	85774642	60589380	38	10411											
VPS13B	157680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	100515083	100515083	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr8:100515083A>T	ENST00000358544.2	+	27	4173	c.4062A>T	c.(4060-4062)gaA>gaT	p.E1354D	VPS13B_ENST00000395996.1_Missense_Mutation_p.E1354D|VPS13B_ENST00000357162.2_Missense_Mutation_p.E1354D	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1354					protein transport (GO:0015031)			p.E1354D(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTCAGTGAACTAGAAGATC	0.318																																					Colon(161;2205 2542 7338 31318)											2	Substitution - Missense(2)	kidney(2)											198	217	210					8																	100515083		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4062A>T	8.37:g.100515083A>T	ENSP00000351346:p.Glu1354Asp		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791478	0.70452	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.47528	0.84;0.84;0.84	5.49	4.34	0.51931	.	0.119673	0.53938	D	0.000047	T	0.58609	0.2134	L	0.59436	1.845	0.34694	D	0.726024	D;P;D;B	0.76494	0.999;0.783;0.997;0.427	D;B;D;B	0.81914	0.995;0.385;0.978;0.082	T	0.64071	-0.6493	10	0.20046	T	0.44	.	8.7686	0.34717	0.8463:0.0:0.1537:0.0	.	1353;1354;1354;1354	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	D	1354	ENSP00000349685:E1354D;ENSP00000351346:E1354D;ENSP00000379318:E1354D	ENSP00000349685:E1354D	E	+	3	2	VPS13B	100584259	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.050000	0.49877	0.929000	0.37192	0.383000	0.25322	GAA		0.318	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100515083	A	T	100515083	3	4	179	1	0	0	0	0	1	0	0	0	17195	40	2	5	4287	5	VPS13B	8	100515083	Missense_Mutation	SNP	A	TCGA-B0-5094-01A-01D-1421-08	14740441	100515083	45848939	39	10412											
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110502193	110502193	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr8:110502193T>G	ENST00000378402.5	+	60	9997	c.9893T>G	c.(9892-9894)aTa>aGa	p.I3298R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3298					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I3300R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGCAAGAATAAGTAATGTG	0.333										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	kidney(1)											89	84	85					8																	110502193		1808	4079	5887	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9893T>G	8.37:g.110502193T>G	ENSP00000367655:p.Ile3298Arg		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901382	0.72754	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85088	-1.94;-1.94	4.84	4.84	0.62591	Pectin lyase fold/virulence factor (1);	0.122741	0.52532	D	0.000065	D	0.88028	0.6327	M	0.90425	3.115	0.50467	D	0.999876	B	0.22211	0.066	B	0.27715	0.082	D	0.87613	0.2505	10	0.87932	D	0	.	12.6536	0.56776	0.0:0.0:0.0:1.0	.	3298	Q86WI1	PKHL1_HUMAN	R	3298;226	ENSP00000367655:I3298R;ENSP00000437376:I226R	ENSP00000367655:I3298R	I	+	2	0	PKHD1L1	110571369	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.276000	0.72601	1.940000	0.56252	0.383000	0.25322	ATA		0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		G	110502193	T	G	110502193	3	3	179	1	0	0	0	0	1	0	0	0	11974	1406	49	5	10131	5	PKHD1L1	8	110502193	Missense_Mutation	SNP	T	TCGA-B0-5094-01A-01D-1421-08	9987110	110502193	35861829	40	10413											
AMBP	259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116840415	116840415	+	Silent	SNP	C	C	T	rs200238441	byFrequency	TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr9:116840415C>T	ENST00000265132.3	-	1	337	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	25					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)	p.P25P(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTTGTCGGGCGGCGTTGGCA	0.617													C|||	6	0.00119808	0.0	0.0	5008	,	,		17510	0.003		0.0	False		,,,				2504	0.0031															2	Substitution - coding silent(2)	breast(1)|kidney(1)											111	121	117					9																	116840415		2203	4300	6503	SO:0001819	synonymous_variant	259			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.75G>A	9.37:g.116840415C>T			P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	CCDS6800.1																																																																																				0.617	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		T	116840415	C	T	116840415	2	4	179	1	0	0	0	0	0	0	0	1	564	755	27	1		1	AMBP	9	116840415	Silent	SNP	C	TCGA-B0-5094-01A-01D-1421-08		116840415	24373016	41	10414											
SLC34A3	142680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140129157	140129157	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr9:140129157G>A	ENST00000538474.1	+	12	1533	c.1309G>A	c.(1309-1311)Gca>Aca	p.A437T	SLC34A3_ENST00000361134.2_Missense_Mutation_p.A437T	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	437					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.A437T(1)		kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCCAGCCCCGCAGACAGGAT	0.662																																																1	Substitution - Missense(1)	kidney(1)											47	40	42					9																	140129157		2201	4294	6495	SO:0001583	missense	142680			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1309G>A	9.37:g.140129157G>A	ENSP00000442397:p.Ala437Thr		A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692300	0.68271	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.31247	1.5;1.5	3.33	-3.47	0.04753	.	0.273016	0.23870	N	0.043745	T	0.18299	0.0439	N	0.13327	0.33	0.09310	N	1	P	0.51351	0.944	P	0.46208	0.507	T	0.30504	-0.9976	10	0.31617	T	0.26	0.0865	12.4817	0.55847	0.0:0.0:0.335:0.665	.	437	Q8N130	NPT2C_HUMAN	T	437	ENSP00000442397:A437T;ENSP00000355353:A437T	ENSP00000355353:A437T	A	+	1	0	SLC34A3	139248978	0.001000	0.12720	0.000000	0.03702	0.725000	0.41563	0.365000	0.20348	-0.902000	0.03886	0.448000	0.29417	GCA		0.662	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		A	140129157	G	A	140129157	3	1	179	1	0	0	0	0	1	0	0	0	14575	1087	38	1	1351	1	SLC34A3	9	140129157	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	23288742	140129157	1084274	42	10415											
FBXO18	84893	hgsc.bcm.edu;ucsc.edu	37	10	5953065	5953070	+	In_Frame_Del	DEL	GGAGAA	GGAGAA	-			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	GGAGAA	GGAGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr10:5953065_5953070delGGAGAA	ENST00000362091.4	+	6	1300_1305	c.1185_1190delGGAGAA	c.(1183-1191)agggagaag>agg	p.EK396del	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_In_Frame_Del_p.EK447del	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	396					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACGCCATGAGGGAGAAGGGGATTAAC	0.592																																																0																																										SO:0001651	inframe_deletion	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1185_1190delGGAGAA	10.37:g.5953065_5953070delGGAGAA	ENSP00000355415:p.Glu396_Lys397del		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	In_Frame_Del	DEL	ENST00000362091.4	37	CCDS7072.1																																																																																				0.592	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		-	5953070	GGAGAA	-	5953065	7	5	179	1	0	1	0	1	0	0	0	0	5733	1223	43	0	1369	0	FBXO18	10	5953065	In_Frame_Del	DEL	GGAGAA	TCGA-B0-5094-01A-01D-1421-08		5953065	129581682	43	10416											
PRKCQ	5588	hgsc.bcm.edu;ucsc.edu	37	10	6553149	6553149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr10:6553149delC	ENST00000263125.5	-	3	225	c.126delG	c.(124-126)gggfs	p.G42fs	PRKCQ_ENST00000397176.2_Frame_Shift_Del_p.G42fs|PRKCQ_ENST00000539722.1_5'UTR	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	42	C2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TATACATCTGCCCGTTCTCTA	0.458																																					Ovarian(50;572 1126 10530 25349 30594)											0													128	114	119					10																	6553149		2203	4300	6503	SO:0001589	frameshift_variant	5588			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.126delG	10.37:g.6553149delC	ENSP00000263125:p.Gly42fs		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Frame_Shift_Del	DEL	ENST00000263125.5	37	CCDS7079.1																																																																																				0.458	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		-	6553149	C	-	6553149	7	5	179	1	0	1	0	1	0	0	0	0	12520	726	26	0	2058	0	PRKCQ	10	6553149	Frame_Shift_Del	DEL	C	TCGA-B0-5094-01A-01D-1421-08	600084	6553149	128981598	44	10417											
ARMC4	55130	hgsc.bcm.edu	37	10	28250531	28250532	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr10:28250531_28250532insA	ENST00000305242.5	-	10	1443_1444	c.1351_1352insT	c.(1351-1353)tatfs	p.Y451fs	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Frame_Shift_Ins_p.Y308fs|ARMC4_ENST00000537576.1_Frame_Shift_Ins_p.Y143fs|ARMC4_ENST00000545014.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	451					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AATTTGCCAATATTCTGATGGC	0.376																																																0																																										SO:0001589	frameshift_variant	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1352dupT	10.37:g.28250532_28250532dupA	ENSP00000306410:p.Tyr451fs		A8K906|B7Z7I1|Q9H0C0	Frame_Shift_Ins	INS	ENST00000305242.5	37	CCDS7157.1																																																																																				0.376	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		A	28250532	-	A	28250531	7	5	179	1	0	1	1	0	0	0	0	0	953	1406	49	0	1826	0	ARMC4	10	28250531	Frame_Shift_Ins	INS	-	TCGA-B0-5094-01A-01D-1421-08	21697382	28250531	107284216	45	10418											
C10orf129	142827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96967148	96967148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr10:96967148G>A	ENST00000394005.3	+	3	596	c.587G>A	c.(586-588)tGg>tAg	p.W196*	C10orf129_ENST00000430183.1_Nonsense_Mutation_p.W41*|C10orf129_ENST00000341686.3_Nonsense_Mutation_p.W196*			Q6P461	ACSM6_HUMAN		196					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.W196*(1)|p.W41*(1)		breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TATGATGGGTGGTTGGATTTC	0.423																																																2	Substitution - Nonsense(2)	kidney(2)											85	77	80					10																	96967148		2203	4300	6503	SO:0001587	stop_gained	142827																														ENST00000394005.3:c.587G>A	10.37:g.96967148G>A	ENSP00000377573:p.Trp196*		A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Nonsense_Mutation	SNP	ENST00000394005.3	37	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	G	37	6.343099	0.97489	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000430183;ENST00000394005	.	.	.	1.2	0.26	0.15588	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8469	0.18671	0.1978:0.0:0.8022:0.0	.	.	.	.	X	222;196;41;196	.	ENSP00000340296:W196X	W	+	2	0	C10orf129	96957138	1.000000	0.71417	0.019000	0.16419	0.322000	0.28314	3.114000	0.50383	0.127000	0.18452	-0.261000	0.10672	TGG		0.423	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			A	96967148	G	A	96967148	4	1	179	1	0	0	0	0	0	1	0	0	1595	1357	47	2	597	2	C10orf129	10	96967148	Nonsense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	68716617	96967148	38567599	46	10419											
ODF3	113746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	199997	199997	+	Silent	SNP	T	T	C	rs202158636		TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr11:199997T>C	ENST00000325113.4	+	7	1046	c.729T>C	c.(727-729)tcT>tcC	p.S243S	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Silent_p.S196S	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	243					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)		p.S243S(1)		biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCAAACACTCTGATTACATGA	0.607																																																1	Substitution - coding silent(1)	kidney(1)											138	102	114					11																	199997		2203	4300	6503	SO:0001819	synonymous_variant	113746			AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"cancer/testis antigen 135"	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.729T>C	11.37:g.199997T>C			B7ZLT0|Q69YX0	Silent	SNP	ENST00000325113.4	37	CCDS7688.1																																																																																				0.607	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239287.1			C	199997	T	C	199997	2	2	179	1	0	0	0	0	0	0	0	1	10831	1567	55	3		3	ODF3	11	199997	Silent	SNP	T	TCGA-B0-5094-01A-01D-1421-08		199997	134806519	47	10420											
OR52B4	143496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4389154	4389154	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr11:4389154G>C	ENST00000408920.2	-	1	462	c.372C>G	c.(370-372)caC>caG	p.H124Q		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	124					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H124Q(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAATATAGTGGTCAAAGG	0.458																																																1	Substitution - Missense(1)	kidney(1)											99	100	100					11																	4389154		2085	4227	6312	SO:0001583	missense	143496			AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"GPCR / Class A : Olfactory receptors"	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.372C>G	11.37:g.4389154G>C	ENSP00000386160:p.His124Gln		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	6.524	0.464889	0.12402	.	.	ENSG00000221996	ENST00000408920	T	0.36340	1.26	5.28	1.25	0.21368	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.19644	0.0472	N	0.17345	0.48	0.19300	N	0.99997	B	0.16802	0.019	B	0.17098	0.017	T	0.17653	-1.0362	10	0.87932	D	0	.	6.0935	0.20007	0.2224:0.0:0.6454:0.1322	.	124	Q8NGK2	O52B4_HUMAN	Q	124	ENSP00000386160:H124Q	ENSP00000386160:H124Q	H	-	3	2	OR52B4	4345730	0.109000	0.22037	0.150000	0.22450	0.064000	0.16182	-0.368000	0.07543	0.372000	0.24591	0.650000	0.86243	CAC		0.458	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		C	4389154	G	C	4389154	3	2	179	1	0	0	0	0	1	0	0	0	11114	1020	36	4	576	4	OR52B4	11	4389154	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	4189157	4389154	130617362	48	10421											
NR1H3	10062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47283271	47283271	+	Silent	SNP	G	G	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr11:47283271G>C	ENST00000467728.1	+	5	2120	c.882G>C	c.(880-882)gcG>gcC	p.A294A	NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000481889.2_Silent_p.A249A|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000395397.3_Silent_p.A249A|NR1H3_ENST00000441012.2_Silent_p.A294A|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	294	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A294A(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGACCTCTGCGATCGAGGTGG	0.577																																																1	Substitution - coding silent(1)	kidney(1)											50	49	49					11																	47283271		2201	4298	6499	SO:0001819	synonymous_variant	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.882G>C	11.37:g.47283271G>C			A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	ENST00000467728.1	37	CCDS7929.1																																																																																				0.577	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			C	47283271	G	C	47283271	2	2	179	1	0	0	0	0	0	0	0	1	10620	1045	37	4		4	NR1H3	11	47283271	Silent	SNP	G	TCGA-B0-5094-01A-01D-1421-08	42894117	47283271	87723245	49	10422											
C1QTNF4	114900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47611595	47611595	+	Silent	SNP	G	G	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr11:47611595G>C	ENST00000302514.3	-	2	1284	c.768C>G	c.(766-768)gcC>gcG	p.A256A		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	256	C1q 2. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)		p.A256A(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CGTAAATCATGGCCTGCACCT	0.672																																																1	Substitution - coding silent(1)	kidney(1)											34	41	39					11																	47611595		2197	4297	6494	SO:0001819	synonymous_variant	114900			AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"complement-c1q tumor necrosis factor-related protein 4"	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.768C>G	11.37:g.47611595G>C			Q8IV25	Silent	SNP	ENST00000302514.3	37	CCDS7942.1																																																																																				0.672	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	NM_031909		C	47611595	G	C	47611595	2	2	179	1	0	0	0	0	0	0	0	1	1967	1335	47	4		4	C1QTNF4	11	47611595	Silent	SNP	G	TCGA-B0-5094-01A-01D-1421-08	328324	47611595	87394921	50	10423											
SYT7	9066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61295625	61295625	+	Silent	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr11:61295625G>A	ENST00000263846.4	-	5	711	c.384C>T	c.(382-384)caC>caT	p.H128H	SYT7_ENST00000535826.1_Silent_p.H247H|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000539008.1_Silent_p.H411H|SYT7_ENST00000540677.1_Silent_p.H203H|SYT7_ENST00000542670.1_Silent_p.H336H|SYT7_ENST00000542836.1_Silent_p.H172H	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	128					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.H128H(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGCAACCCTCGTGGGCCTCAT	0.652																																																1	Substitution - coding silent(1)	kidney(1)											44	51	49					11																	61295625		2201	4299	6500	SO:0001819	synonymous_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.384C>T	11.37:g.61295625G>A			F5GZU9|Q08AH6	Silent	SNP	ENST00000263846.4	37	CCDS31577.1																																																																																				0.652	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		A	61295625	G	A	61295625	2	1	179	1	0	0	0	0	0	0	0	1	15484	1136	40	1		1	SYT7	11	61295625	Silent	SNP	G	TCGA-B0-5094-01A-01D-1421-08	13684030	61295625	73710891	51	10424											
BEST1	7439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61727371	61727371	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr11:61727371T>C	ENST00000378043.4	+	9	1599	c.956T>C	c.(955-957)cTg>cCg	p.L319P	BEST1_ENST00000378042.3_Missense_Mutation_p.L232P|BEST1_ENST00000449131.2_Missense_Mutation_p.L259P|FTH1_ENST00000529631.1_Silent_p.T40T|FTH1_ENST00000529191.1_Missense_Mutation_p.Q48R|BEST1_ENST00000526988.1_Missense_Mutation_p.C281R|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000301774.9_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	319					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.L319P(1)|p.L259P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CAGGTGTCCCTGTTGGCTGTG	0.577																																																2	Substitution - Missense(2)	kidney(2)											67	57	60					11																	61727371		2202	4299	6501	SO:0001583	missense	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.956T>C	11.37:g.61727371T>C	ENSP00000367282:p.Leu319Pro		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	CCDS31580.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	19.64|19.64|19.64	3.865313|3.865313|3.865313	0.71949|0.71949|0.71949	.|.|.	.|.|.	ENSG00000167995|ENSG00000167995|ENSG00000167996	ENST00000526988|ENST00000378043;ENST00000378042;ENST00000449131|ENST00000529191	D|D;D;D|D	0.99105|0.97772|0.86097	-5.43|-4.53;-4.21;-4.5|-2.07	4.74|4.74|4.74	4.74|4.74|4.74	0.60224|0.60224|0.60224	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000003|.	D|D|D	0.91068|0.91068|0.91068	0.7189|0.7189|0.7189	M|M|M	0.83774|0.83774|0.83774	2.66|2.66|2.66	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;P|D;D;D|.	0.49961|0.89917|.	0.93;0.93|1.0;1.0;1.0|.	P;B|D;D;D|.	0.48030|0.81914|.	0.564;0.289|0.995;0.988;0.995|.	D|D|D	0.91625|0.91625|0.91625	0.5314|0.5314|0.5314	9|10|6	0.87932|0.72032|.	D|D|.	0|0.01|.	-15.0855|-15.0855|-15.0855	14.2294|14.2294|14.2294	0.65882|0.65882|0.65882	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	281;327|232;319;259|.	B7Z1N8;B7Z336|O76090-4;O76090;O76090-3|.	.;.|.;BEST1_HUMAN;.|.	R|P|R	281|319;232;259|48	ENSP00000433195:C281R|ENSP00000367282:L319P;ENSP00000367281:L232P;ENSP00000399709:L259P|ENSP00000431659:Q48R	ENSP00000432681:C387R|ENSP00000367281:L232P|.	C|L|Q	+|+|-	1|2|2	0|0|0	BEST1|BEST1|FTH1	61483947|61483947|61483947	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.925000|0.925000|0.925000	0.36789|0.36789|0.36789	0.673000|0.673000|0.673000	0.39480|0.39480|0.39480	7.903000|7.903000|7.903000	0.87398|0.87398|0.87398	1.905000|1.905000|1.905000	0.55150|0.55150|0.55150	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	TGT|CTG|CAG		0.577	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		C	61727371	T	C	61727371	3	2	179	1	0	0	0	0	1	0	0	0	1404	1580	55	3	986	3	BEST1	11	61727371	Missense_Mutation	SNP	T	TCGA-B0-5094-01A-01D-1421-08	431746	61727371	73279145	52	10425											
ODZ4	26011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	78380861	78380861	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr11:78380861C>G	ENST00000278550.7	-	32	6991	c.6529G>C	c.(6529-6531)Gtg>Ctg	p.V2177L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2177					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.V2177L(2)									TCCTTCTTCACTACTCGCCCC	0.498																																																2	Substitution - Missense(2)	kidney(2)											83	87	85					11																	78380861		2097	4227	6324	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6529G>C	11.37:g.78380861C>G	ENSP00000278550:p.Val2177Leu		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050294	0.75846	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89875	-2.58;0.88	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.92319	0.7563	L	0.47716	1.5	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	D	0.91093	0.4908	9	.	.	.	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	2177	Q6N022	TEN4_HUMAN	L	2177;641	ENSP00000278550:V2177L;ENSP00000431711:V641L	.	V	-	1	0	ODZ4	78058509	1.000000	0.71417	0.979000	0.43373	0.982000	0.71751	4.825000	0.62708	2.677000	0.91161	0.655000	0.94253	GTG		0.498	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			G	78380861	C	G	78380861	3	3	179	1	0	0	0	0	1	0	0	0	10839	565	20	4	1792	4	ODZ4	11	78380861	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	16653490	78380861	56625655	53	10426											
CBL	867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119168096	119168096	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr11:119168096C>T	ENST00000264033.4	+	14	2532	c.2156C>T	c.(2155-2157)gCa>gTa	p.A719V		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	719	Asp/Glu-rich (acidic).|Interaction with CD2AP.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A719V(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TGGTTCAGAGCATGTGATTGC	0.398			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																														"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	1	Substitution - Missense(1)	kidney(1)											100	92	95					11																	119168096		2199	4295	6494	SO:0001583	missense	867	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2156C>T	11.37:g.119168096C>T	ENSP00000264033:p.Ala719Val		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619576	0.46736	.	.	ENSG00000110395	ENST00000264033	T	0.76060	-0.99	5.32	-0.291	0.12843	.	0.985567	0.08307	N	0.965970	T	0.50582	0.1624	N	0.08118	0	0.23174	N	0.99818	B	0.02656	0.0	B	0.01281	0.0	T	0.28267	-1.0049	10	0.12766	T	0.61	-22.0516	9.3311	0.38023	0.0:0.4767:0.0:0.5233	.	719	P22681	CBL_HUMAN	V	719	ENSP00000264033:A719V	ENSP00000264033:A719V	A	+	2	0	CBL	118673306	0.000000	0.05858	0.010000	0.14722	0.990000	0.78478	-0.462000	0.06704	-0.000000	0.14550	-0.157000	0.13467	GCA		0.398	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		T	119168096	C	T	119168096	3	4	179	1	0	0	0	0	1	0	0	0	2702	710	25	2	2210	2	CBL	11	119168096	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	40787235	119168096	15838420	54	10427											
TECTA	7007	broad.mit.edu	37	11	121016494	121016494	+	Silent	SNP	G	G	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr11:121016494G>T	ENST00000392793.1	+	12	4045	c.3774G>T	c.(3772-3774)ctG>ctT	p.L1258L	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Silent_p.L1258L			O75443	TECTA_HUMAN	tectorin alpha	1258	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.L1258L(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCATGGGTCTGCTTGCATCGA	0.592																																																1	Substitution - coding silent(1)	kidney(1)											152	128	136					11																	121016494		2203	4299	6502	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3774G>T	11.37:g.121016494G>T				Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.592	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	121016494	G	T	121016494	2	4	179	1	0	0	0	0	0	0	0	1	15752	1306	46	4		4	TECTA	11	121016494	Silent	SNP	G	TCGA-B0-5094-01A-01D-1421-08	1848398	121016494	13990022	55	10428											
KDM5A	5927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	442697	442697	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr12:442697C>T	ENST00000399788.2	-	12	1971	c.1609G>A	c.(1609-1611)Gtt>Att	p.V537I	KDM5A_ENST00000382815.4_Missense_Mutation_p.V537I	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	537	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.V537I(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGATGGTAACTAACTGATGC	0.463			T	NUP98	AML																																		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	2	Substitution - Missense(2)	kidney(2)											128	130	130					12																	442697		1985	4171	6156	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1609G>A	12.37:g.442697C>T	ENSP00000382688:p.Val537Ile		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642963	0.87859	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.70749	-0.51;-0.51;-0.51	5.53	5.53	0.82687	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.80773	0.4687	M	0.76328	2.33	0.80722	D	1	B;B;B;B	0.27765	0.074;0.188;0.012;0.174	B;B;B;B	0.43508	0.047;0.422;0.073;0.149	T	0.80358	-0.1416	10	0.87932	D	0	-11.1856	19.4553	0.94884	0.0:1.0:0.0:0.0	.	156;537;537;537	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	I	156;496;537;537;156	ENSP00000382688:V537I;ENSP00000372265:V537I;ENSP00000440622:V156I	ENSP00000261253:V156I	V	-	1	0	KDM5A	312958	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.659000	0.83766	2.594000	0.87642	0.591000	0.81541	GTT		0.463	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		T	442697	C	T	442697	3	4	179	1	0	0	0	0	1	0	0	0	8135	565	20	2	3531	2	KDM5A	12	442697	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08		442697	133409198	56	10429											
SCNN1A	6337	broad.mit.edu;hgsc.bcm.edu	37	12	6463640	6463640	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr12:6463640C>T	ENST00000228916.2	-	8	1422	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	SCNN1A_ENST00000543768.1_Missense_Mutation_p.V465M|SCNN1A_ENST00000540037.1_Missense_Mutation_p.V142M|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.V501M|SCNN1A_ENST00000396966.2_Missense_Mutation_p.V442M|SCNN1A_ENST00000358945.3_Missense_Mutation_p.V442M	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	442					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.V442M(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CAGTACTCCACGTTCTGGGGC	0.577																																																1	Substitution - Missense(1)	kidney(1)											69	67	67					12																	6463640		2203	4300	6503	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1324G>A	12.37:g.6463640C>T	ENSP00000228916:p.Val442Met		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.880035	0.33162	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	4.95	4.06	0.47325	.	0.459943	0.19995	N	0.101470	T	0.50103	0.1596	L	0.51422	1.61	0.09310	N	1	B;P;B	0.46277	0.432;0.875;0.108	B;B;B	0.34301	0.117;0.179;0.027	T	0.44345	-0.9334	10	0.40728	T	0.16	-11.9469	11.3617	0.49646	0.0:0.9102:0.0:0.0898	.	465;442;501	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	M	501;442;142;442;442;465	ENSP00000353292:V501M;ENSP00000351825:V442M;ENSP00000440876:V142M;ENSP00000228916:V442M;ENSP00000380166:V442M;ENSP00000438739:V465M	ENSP00000228916:V442M	V	-	1	0	SCNN1A	6333901	0.189000	0.23263	0.021000	0.16686	0.107000	0.19398	2.429000	0.44758	1.102000	0.41551	-0.327000	0.08410	GTG		0.577	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			T	6463640	C	T	6463640	3	4	179	1	0	0	0	0	1	0	0	0	13933	536	19	1	709	1	SCNN1A	12	6463640	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	6020943	6463640	127388255	57	10430											
RIMKLB	57494	broad.mit.edu;hgsc.bcm.edu	37	12	8902521	8902521	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr12:8902521C>T	ENST00000538135.1	+	3	1064	c.239C>T	c.(238-240)aCc>aTc	p.T80I	RIMKLB_ENST00000535829.1_Missense_Mutation_p.T80I|RIMKLB_ENST00000357529.3_Missense_Mutation_p.T80I|RIMKLB_ENST00000299673.5_3'UTR			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	80					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.T80I(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGAGTACCAACCCCTTGGGTG	0.463																																																1	Substitution - Missense(1)	kidney(1)											47	48	48					12																	8902521		1890	4097	5987	SO:0001583	missense	57494			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.239C>T	12.37:g.8902521C>T	ENSP00000440943:p.Thr80Ile		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823977	0.90873	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	U	0.000000	T	0.72748	0.3499	L	0.55481	1.735	0.80722	D	1	D;D	0.65815	0.995;0.99	P;P	0.57960	0.83;0.81	T	0.75388	-0.3335	9	0.87932	D	0	.	17.8968	0.88891	0.0:1.0:0.0:0.0	.	80;80	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	I	80;80;141;80;80;80	.	ENSP00000350136:T80I	T	+	2	0	RIMKLB	8793788	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.392000	0.79840	2.571000	0.86741	0.591000	0.81541	ACC		0.463	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		T	8902521	C	T	8902521	3	4	179	1	0	0	0	0	1	0	0	0	13372	507	18	2	245	2	RIMKLB	12	8902521	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	2438881	8902521	124949374	58	10431											
KIAA1467	57613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	13233561	13233561	+	Missense_Mutation	SNP	C	C	G	rs192853755	byFrequency	TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr12:13233561C>G	ENST00000197268.8	+	13	1986	c.1866C>G	c.(1864-1866)atC>atG	p.I622M		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	622						integral component of membrane (GO:0016021)		p.I622M(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTCCATAGATCTAATCTGATG	0.363													C|||	5	0.000998403	0.0	0.0	5008	,	,		20985	0.005		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											91	84	87					12																	13233561		2203	4300	6503	SO:0001583	missense	57613			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1866C>G	12.37:g.13233561C>G	ENSP00000197268:p.Ile622Met		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	CCDS31750.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	8.354	0.831578	0.16820	.	.	ENSG00000084444	ENST00000197268	.	.	.	4.91	-2.94	0.05581	.	1.900440	0.02151	N	0.058020	T	0.11410	0.0278	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.11084	-1.0602	9	0.36615	T	0.2	-14.1461	4.3913	0.11341	0.123:0.2412:0.4819:0.1539	.	622	A2RU67	K1467_HUMAN	M	622	.	ENSP00000197268:I622M	I	+	3	3	KIAA1467	13124828	0.141000	0.22595	0.001000	0.08648	0.131000	0.20780	-1.131000	0.03238	-0.900000	0.03896	-0.266000	0.10368	ATC		0.363	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		G	13233561	C	G	13233561	3	3	179	1	0	0	0	0	1	0	0	0	8237	903	32	4	1916	4	KIAA1467	12	13233561	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	4331040	13233561	120618334	59	10432											
CTDSP2	10106	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58217389	58217389	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr12:58217389G>T	ENST00000398073.2	-	8	1115	c.812C>A	c.(811-813)cCt>cAt	p.P271H	CTDSP2_ENST00000548823.1_Missense_Mutation_p.P98H|MIR26A2_ENST00000385054.1_RNA|CTDSP2_ENST00000547701.1_Missense_Mutation_p.P119H	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	271					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.P271H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GGCAGGCTAAGGGGCCCGCAG	0.582																																																1	Substitution - Missense(1)	kidney(1)											27	33	31					12																	58217389		2103	4242	6345	SO:0001583	missense	10106			AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	17077	protein-coding gene	gene with protein product	"conserved gene amplified in osteosarcoma", "nuclear LIM interactor-interacting factor 2", "NLI-interacting factor 2", "small CTD phosphatase 2"	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.812C>A	12.37:g.58217389G>T	ENSP00000381148:p.Pro271His		A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763236	0.69763	.	.	ENSG00000175215	ENST00000398073;ENST00000548823;ENST00000549039;ENST00000547701	T;T	0.32023	2.19;1.47	5.26	4.35	0.52113	.	0.820040	0.11432	N	0.564691	T	0.39462	0.1079	N	0.22421	0.69	0.35708	D	0.816149	D;D;B	0.89917	1.0;1.0;0.001	D;D;B	0.91635	0.998;0.999;0.001	T	0.42464	-0.9450	10	0.87932	D	0	0.1882	8.441	0.32816	0.0817:0.0:0.7655:0.1528	.	145;98;271	B4DH48;F8W1I1;O14595	.;.;CTDS2_HUMAN	H	271;98;125;119	ENSP00000381148:P271H;ENSP00000448386:P125H	ENSP00000381148:P271H	P	-	2	0	CTDSP2	56503656	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.348000	0.44045	2.729000	0.93468	0.563000	0.77884	CCT		0.582	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		T	58217389	G	T	58217389	3	4	179	1	0	0	0	0	1	0	0	0	4006	1000	35	4	7	4	CTDSP2	12	58217389	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	44983828	58217389	75634506	60	10433											
LIN7A	8825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	81239638	81239638	+	Silent	SNP	A	A	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr12:81239638A>T	ENST00000552864.1	-	4	556	c.354T>A	c.(352-354)ctT>ctA	p.L118L		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	118	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)	p.L118L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CATTAAAACCAAGGCCTTCAT	0.458																																																1	Substitution - coding silent(1)	kidney(1)											66	63	64					12																	81239638		2203	4300	6503	SO:0001819	synonymous_variant	8825			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"mammalian LIN-7 1"	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.354T>A	12.37:g.81239638A>T			A4FTY3|Q147W1|Q6LES3|Q7LDS4	Silent	SNP	ENST00000552864.1	37	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	A	0.517	-0.863998	0.02590	.	.	ENSG00000111052	ENST00000552093	.	.	.	5.27	0.0828	0.14430	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3019	10.1771	0.42946	0.4279:0.5045:0.0676:0.0	.	.	.	.	X	84	.	ENSP00000448891:L84X	L	-	2	0	LIN7A	79763769	0.999000	0.42202	1.000000	0.80357	0.034000	0.12701	0.773000	0.26661	0.054000	0.16065	-1.333000	0.01266	TTG		0.458	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			T	81239638	A	T	81239638	2	4	179	1	0	0	0	0	0	0	0	1	8812	117	5	5		5	LIN7A	12	81239638	Silent	SNP	A	TCGA-B0-5094-01A-01D-1421-08	23022249	81239638	52612257	61	10434											
ANKLE2	23141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133331594	133331594	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr12:133331594C>G	ENST00000357997.5	-	2	396	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	ANKLE2_ENST00000337516.5_Missense_Mutation_p.E103Q|ANKLE2_ENST00000539605.1_Missense_Mutation_p.E41Q	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	103	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.E103Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AATTTTTTCTCAAAAATGAAC	0.458																																																1	Substitution - Missense(1)	kidney(1)											75	74	74					12																	133331594		1889	4118	6007	SO:0001583	missense	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.307G>C	12.37:g.133331594C>G	ENSP00000350686:p.Glu103Gln		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894331	0.91889	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.57752	0.38;0.38;0.38	5.4	5.4	0.78164	LEM-like domain (2);Lamino-associated polypeptide 2/emerin (2);	0.000000	0.85682	D	0.000000	T	0.72486	0.3466	M	0.68593	2.085	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73842	-0.3855	10	0.59425	D	0.04	-6.6395	19.2348	0.93855	0.0:1.0:0.0:0.0	.	103;103	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	Q	41;103;103	ENSP00000446268:E41Q;ENSP00000350686:E103Q;ENSP00000337651:E103Q	ENSP00000337651:E103Q	E	-	1	0	ANKLE2	131841667	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.408000	0.80041	2.549000	0.85964	0.644000	0.83932	GAG		0.458	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			G	133331594	C	G	133331594	3	3	179	1	0	0	0	0	1	0	0	0	633	835	29	4	2557	4	ANKLE2	12	133331594	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	52091956	133331594	520301	62	10435											
RALGAPA1	253959	broad.mit.edu;hgsc.bcm.edu	37	14	36104763	36104763	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr14:36104763C>G	ENST00000389698.3	-	31	4590	c.4200G>C	c.(4198-4200)atG>atC	p.M1400I	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.M1413I|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.M1447I|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.M1400I	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1400	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.M1400I(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGGTAAGGCCATGATCCAGT	0.343																																																2	Substitution - Missense(2)	kidney(2)											50	46	47					14																	36104763		2203	4298	6501	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4200G>C	14.37:g.36104763C>G	ENSP00000374348:p.Met1400Ile		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738247	0.89573	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;1.52;-0.16;-0.16	5.27	5.27	0.74061	.	0.038027	0.85682	D	0.000000	T	0.79534	0.4462	M	0.75615	2.305	0.58432	D	0.999999	D;P;P;D	0.59767	0.986;0.589;0.811;0.974	D;B;B;P	0.71656	0.974;0.298;0.425;0.841	T	0.80350	-0.1419	10	0.54805	T	0.06	-14.6817	19.2611	0.93968	0.0:1.0:0.0:0.0	.	1447;1413;1400;1400	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	I	1400;1400;1400;1447;38;1413;1447	ENSP00000374348:M1400I;ENSP00000302647:M1400I;ENSP00000258840:M1447I;ENSP00000451133:M38I;ENSP00000371803:M1413I;ENSP00000451877:M1447I	ENSP00000258840:M1447I	M	-	3	0	RALGAPA1	35174514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.089000	0.76909	2.604000	0.88044	0.563000	0.77884	ATG		0.343	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		G	36104763	C	G	36104763	3	3	179	1	0	0	0	0	1	0	0	0	13019	594	21	4	2103	4	RALGAPA1	14	36104763	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08		36104763	71244777	63	10436											
SYNE2	23224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64568741	64568741	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr14:64568741C>T	ENST00000344113.4	+	64	12685	c.12473C>T	c.(12472-12474)tCc>tTc	p.S4158F	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.S792F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4158F|SYNE2_ENST00000357395.3_Missense_Mutation_p.S543F|SYNE2_ENST00000394768.2_Missense_Mutation_p.S543F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4173F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4158				S -> F (in Ref. 2; AAL33802 and 3). {ECO:0000305}.	centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S4158F(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTTCCTCATCCTCTGGAACA	0.517																																																1	Substitution - Missense(1)	kidney(1)											106	87	93					14																	64568741		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12473C>T	14.37:g.64568741C>T	ENSP00000341781:p.Ser4158Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671035	0.47781	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.58797	0.67;3.97;0.67;0.31;4.02;3.97	4.41	4.41	0.53225	.	0.000000	0.48767	D	0.000177	T	0.63988	0.2558	L	0.32530	0.975	0.80722	D	1	D;D;D	0.69078	0.958;0.997;0.997	P;D;D	0.66497	0.66;0.936;0.944	T	0.66488	-0.5911	10	0.54805	T	0.06	.	14.0951	0.65016	0.0:1.0:0.0:0.0	.	543;4158;4158	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	F	4158;543;4158;4173;4173;792;543;50	ENSP00000350719:S4158F;ENSP00000349969:S543F;ENSP00000341781:S4158F;ENSP00000452570:S4173F;ENSP00000450831:S792F;ENSP00000378249:S543F	ENSP00000261678:S4173F	S	+	2	0	SYNE2	63638494	0.993000	0.37304	0.887000	0.34795	0.875000	0.50365	3.565000	0.53798	2.162000	0.67917	0.462000	0.41574	TCC		0.517	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64568741	C	T	64568741	3	4	179	1	0	0	0	0	1	0	0	0	15451	855	30	2	12723	2	SYNE2	14	64568741	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	28463978	64568741	42780799	64	10437											
VPS18	57617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41194909	41194909	+	Silent	SNP	G	G	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr15:41194909G>T	ENST00000220509.5	+	5	2631	c.2292G>T	c.(2290-2292)gtG>gtT	p.V764V	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	764					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)	p.V764V(1)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCACGTGGTGCAGGAAGAGG	0.562																																																1	Substitution - coding silent(1)	kidney(1)											148	132	137					15																	41194909		2203	4300	6503	SO:0001819	synonymous_variant	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2292G>T	15.37:g.41194909G>T			Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	CCDS10069.1																																																																																				0.562	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			T	41194909	G	T	41194909	2	4	179	1	0	0	0	0	0	0	0	1	17199	1306	46	4		4	VPS18	15	41194909	Silent	SNP	G	TCGA-B0-5094-01A-01D-1421-08		41194909	61336483	65	10438											
TELO2	9894	broad.mit.edu	37	16	1557648	1557648	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr16:1557648A>C	ENST00000262319.6	+	20	2617	c.2338A>C	c.(2338-2340)Agc>Cgc	p.S780R		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	780					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.S780R(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CGTCCTGCTCAGCCTGCCTGC	0.697																																																1	Substitution - Missense(1)	kidney(1)											45	39	41					16																	1557648		2197	4298	6495	SO:0001583	missense	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2338A>C	16.37:g.1557648A>C	ENSP00000262319:p.Ser780Arg		D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510465	0.64522	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.32515	1.45	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55829	-0.8079	10	0.40728	T	0.16	-15.879	14.6226	0.68597	1.0:0.0:0.0:0.0	.	780	Q9Y4R8	TELO2_HUMAN	R	303;780	ENSP00000262319:S780R	ENSP00000262319:S780R	S	+	1	0	TELO2	1497649	1.000000	0.71417	0.975000	0.42487	0.215000	0.24574	5.445000	0.66594	1.962000	0.57031	0.379000	0.24179	AGC		0.697	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		C	1557648	A	C	1557648	3	2	179	1	0	0	0	0	1	0	0	0	15762	188	7	5	2412	5	TELO2	16	1557648	Missense_Mutation	SNP	A	TCGA-B0-5094-01A-01D-1421-08		1557648	88797105	66	10439											
C16orf75	116028	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	11444604	11444604	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr16:11444604T>C	ENST00000312499.5	+	2	442	c.401T>C	c.(400-402)aTg>aCg	p.M134T	RMI2_ENST00000572173.1_Missense_Mutation_p.M71T|RMI2_ENST00000576027.1_3'UTR|RMI2_ENST00000381820.2_Missense_Mutation_p.M71T|AC009121.1_ENST00000458885.1_RNA|RP11-485G7.6_ENST00000574681.1_RNA	NM_152308.1	NP_689521.1	Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	134					DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M134T(1)		endometrium(1)|kidney(1)|ovary(1)	3						CATGAAAGTATGTGGGAACTG	0.443																																																1	Substitution - Missense(1)	kidney(1)											108	102	104					16																	11444604		2197	4300	6497	SO:0001583	missense	0			AK123764	CCDS10548.1	16p13.13	2013-06-10	2013-06-10	2011-06-09	ENSG00000175643	ENSG00000175643			28349	protein-coding gene	gene with protein product		612426	"chromosome 16 open reading frame 75", "RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)"	C16orf75		18923083, 20826341	Standard	NM_152308		Approved	MGC24665, BLAP18	uc002daw.1	Q96E14	OTTHUMG00000129793	ENST00000312499.5:c.401T>C	16.37:g.11444604T>C	ENSP00000310356:p.Met134Thr		B3KVZ6|Q49AE2|Q8TBL0	Missense_Mutation	SNP	ENST00000312499.5	37	CCDS10548.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.704357	0.30232	.	.	ENSG00000175643	ENST00000381820;ENST00000312499	.	.	.	5.92	5.92	0.95590	.	0.094876	0.64402	D	0.000001	T	0.67692	0.2920	M	0.75615	2.305	0.49915	D	0.99983	B	0.23249	0.082	B	0.20767	0.031	T	0.66799	-0.5832	9	0.59425	D	0.04	.	14.3168	0.66457	0.0:0.0:0.0:1.0	.	134	Q96E14	RMI2_HUMAN	T	71;134	.	ENSP00000310356:M134T	M	+	2	0	RMI2	11352105	1.000000	0.71417	0.992000	0.48379	0.415000	0.31203	2.968000	0.49224	2.263000	0.75096	0.533000	0.62120	ATG		0.443	RMI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252019.1	NM_152308		C	11444604	T	C	11444604	3	2	179	1	0	0	0	0	1	0	0	0	1836	1464	51	3	407	3	C16orf75	16	11444604	Missense_Mutation	SNP	T	TCGA-B0-5094-01A-01D-1421-08	9886956	11444604	78910149	67	10440											
ATXN2L	11273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28847661	28847661	+	3'UTR	SNP	A	A	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr16:28847661A>T	ENST00000336783.4	+	0	3470				ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R1052*|ATXN2L_ENST00000564304.1_Intron|ATXN2L_ENST00000340394.8_Intron|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Intron|ATXN2L_ENST00000382686.4_Intron|ATXN2L_ENST00000570200.1_Intron	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like						regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.R1052*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TAGGGTGGGCAGAAGCCACAG	0.662																																																1	Substitution - Nonsense(1)	kidney(1)											49	57	54					16																	28847661		2197	4300	6497	SO:0001624	3_prime_UTR_variant	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.*75A>T	16.37:g.28847661A>T			A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Nonsense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	40	8.382561	0.98786	.	.	ENSG00000168488	ENST00000395547	.	.	.	4.74	3.66	0.41972	.	0.000000	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-0.3552	6.5285	0.22314	0.8943:0.0:0.1057:0.0	.	.	.	.	X	1052	.	ENSP00000378917:R1052X	R	+	1	2	ATXN2L	28755162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.314000	0.33597	2.137000	0.66172	0.450000	0.29827	AGA		0.662	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		T	28847661	A	T	28847661	1	4	179	0	1	0	0	0	0	0	0	0	1212	180	7	5		5	ATXN2L	16	28847661	3'UTR	SNP	A	TCGA-B0-5094-01A-01D-1421-08	17403057	28847661	61507092	68	10441											
SALL1	6299	hgsc.bcm.edu	37	16	51175664	51175664	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr16:51175664T>C	ENST00000251020.4	-	2	502	c.469A>G	c.(469-471)Agc>Ggc	p.S157G	SALL1_ENST00000440970.1_Missense_Mutation_p.S60G|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	157	Poly-Ser.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S157G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgctgctgctgctgctgctg	0.642																																					GBM(103;1352 1446 1855 4775 8890)											1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.469A>G	16.37:g.51175664T>C	ENSP00000251020:p.Ser157Gly		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.452578	0.00012	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06294	3.32;3.32	0.225	-0.451	0.12214	.	0.410124	0.18238	N	0.147338	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39165	-0.9627	9	0.41790	T	0.15	.	.	.	.	.	157	Q9NSC2	SALL1_HUMAN	G	157;60;121	ENSP00000251020:S157G;ENSP00000407914:S60G	ENSP00000251020:S157G	S	-	1	0	SALL1	49733165	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-1.472000	0.02341	-0.850000	0.04152	-0.879000	0.02964	AGC		0.642	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		C	51175664	T	C	51175664	3	2	179	1	0	0	0	0	1	0	0	0	13816	1580	55	3	3513	3	SALL1	16	51175664	Missense_Mutation	SNP	T	TCGA-B0-5094-01A-01D-1421-08	22328003	51175664	39179089	69	10442											
GNAO1	2775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	56309956	56309956	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr16:56309956G>A	ENST00000262493.6	+	3	1121	c.275G>A	c.(274-276)gGc>gAc	p.G92D	GNAO1_ENST00000262494.7_Missense_Mutation_p.G92D	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	92					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)	p.G92D(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GACACTTTGGGCATCGAATAT	0.522																																																2	Substitution - Missense(2)	kidney(2)											108	91	97					16																	56309956		2198	4300	6498	SO:0001583	missense	2775				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.275G>A	16.37:g.56309956G>A	ENSP00000262493:p.Gly92Asp		P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309633	0.40895	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.88046	-2.33;-2.33	5.39	4.44	0.53790	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.82430	0.5035	L	0.45228	1.405	0.80722	D	1	B;B	0.12013	0.004;0.005	B;B	0.15870	0.014;0.008	T	0.77877	-0.2424	10	0.41790	T	0.15	.	13.2236	0.59903	0.0759:0.0:0.9241:0.0	.	92;92	P09471;P09471-2	GNAO_HUMAN;.	D	92	ENSP00000262493:G92D;ENSP00000262494:G92D	ENSP00000262493:G92D	G	+	2	0	GNAO1	54867457	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	7.912000	0.87465	1.289000	0.44618	-0.140000	0.14226	GGC		0.522	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		A	56309956	G	A	56309956	3	1	179	1	0	0	0	0	1	0	0	0	6510	1203	42	2	285	2	GNAO1	16	56309956	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	5134292	56309956	34044797	70	10443											
C18orf8	29919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	21084363	21084363	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr18:21084363C>T	ENST00000269221.3	+	2	241	c.131C>T	c.(130-132)aCt>aTt	p.T44I	C18orf8_ENST00000590868.1_Missense_Mutation_p.T44I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	44						lysosomal membrane (GO:0005765)		p.T44I(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGTGGAGCTACTGGCGTGGTA	0.433																																																1	Substitution - Missense(1)	kidney(1)											218	192	201					18																	21084363		2203	4300	6503	SO:0001583	missense	29919			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.131C>T	18.37:g.21084363C>T	ENSP00000269221:p.Thr44Ile		Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827634	0.90955	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.11604	2.76	4.34	4.34	0.51931	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.981;0.992	T	0.32481	-0.9905	10	0.46703	T	0.11	-12.1412	17.2368	0.87001	0.0:1.0:0.0:0.0	.	44;44	Q96DM3;F5H2W0	MIC1_HUMAN;.	I	44	ENSP00000269221:T44I	ENSP00000269221:T44I	T	+	2	0	C18orf8	19338361	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	6.956000	0.76013	2.130000	0.65690	0.655000	0.94253	ACT		0.433	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		T	21084363	C	T	21084363	3	4	179	1	0	0	0	0	1	0	0	0	1909	565	20	2	137	2	C18orf8	18	21084363	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08		21084363	56992885	71	10444											
ABCA7	10347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1048966	1048966	+	Missense_Mutation	SNP	A	A	T	rs145106069		TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr19:1048966A>T	ENST00000263094.6	+	17	2573	c.2342A>T	c.(2341-2343)aAg>aTg	p.K781M	ABCA7_ENST00000433129.1_Missense_Mutation_p.K781M|ABCA7_ENST00000435683.2_Missense_Mutation_p.K643M	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	781					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.K781M(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCCCCCAAGAGTCCAGCC	0.607																																																1	Substitution - Missense(1)	kidney(1)											25	26	26					19																	1048966		2193	4297	6490	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2342A>T	19.37:g.1048966A>T	ENSP00000263094:p.Lys781Met		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.502041	0.26949	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.87650	-2.28;-2.28	4.08	1.87	0.25490	.	.	.	.	.	D	0.84266	0.5434	L	0.58354	1.805	0.09310	N	1	P;P	0.47604	0.898;0.65	P;B	0.46718	0.525;0.145	T	0.74315	-0.3705	9	0.52906	T	0.07	.	3.2217	0.06717	0.625:0.0:0.1943:0.1808	.	643;781	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	M	781	ENSP00000263094:K781M;ENSP00000414062:K781M	ENSP00000263094:K781M	K	+	2	0	ABCA7	999966	0.134000	0.22483	0.212000	0.23672	0.186000	0.23388	1.054000	0.30455	0.431000	0.26258	0.379000	0.24179	AAG		0.607	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1048966	A	T	1048966	3	4	179	1	0	0	0	0	1	0	0	0	37	72	3	5	2404	5	ABCA7	19	1048966	Missense_Mutation	SNP	A	TCGA-B0-5094-01A-01D-1421-08		1048966	58080017	72	10445											
NCLN	56926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3192504	3192504	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr19:3192504C>T	ENST00000246117.4	+	2	652	c.221C>T	c.(220-222)aCg>aTg	p.T74M	NCLN_ENST00000590671.1_5'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	74					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T74M(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCGCGCACGATGGCGGCG	0.706																																																1	Substitution - Missense(1)	kidney(1)											14	16	15					19																	3192504		2172	4219	6391	SO:0001583	missense	56926			BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.221C>T	19.37:g.3192504C>T	ENSP00000246117:p.Thr74Met		D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	ENST00000246117.4	37	CCDS32869.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481302	0.63849	.	.	ENSG00000125912	ENST00000246117	T	0.32515	1.45	4.38	4.38	0.52667	.	0.105496	0.64402	D	0.000005	T	0.51449	0.1675	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.53019	-0.8497	10	0.48119	T	0.1	-7.2067	15.5394	0.76031	0.0:1.0:0.0:0.0	.	74	Q969V3	NCLN_HUMAN	M	74	ENSP00000246117:T74M	ENSP00000246117:T74M	T	+	2	0	NCLN	3143504	1.000000	0.71417	0.896000	0.35187	0.289000	0.27227	7.333000	0.79214	1.992000	0.58205	0.555000	0.69702	ACG		0.706	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		T	3192504	C	T	3192504	3	4	179	1	0	0	0	0	1	0	0	0	10229	536	19	1	227	1	NCLN	19	3192504	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	2143538	3192504	55936479	73	10446											
INSR	3643	broad.mit.edu;hgsc.bcm.edu	37	19	7152929	7152929	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr19:7152929A>G	ENST00000302850.5	-	10	2181	c.2039T>C	c.(2038-2040)cTg>cCg	p.L680P	INSR_ENST00000341500.5_Missense_Mutation_p.L680P	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	680	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.L680P(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CCTCGAGGGCAGCTTCAGCCC	0.547																																																2	Substitution - Missense(2)	kidney(2)											66	60	62					19																	7152929		2203	4300	6503	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2039T>C	19.37:g.7152929A>G	ENSP00000303830:p.Leu680Pro		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	a	18.96	3.733880	0.69189	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.72942	-0.7;-0.7	5.55	5.55	0.83447	Fibronectin, type III (3);	0.000000	0.36409	U	0.002602	T	0.79423	0.4443	M	0.75264	2.295	0.80722	D	1	P;P;B	0.45126	0.609;0.851;0.409	B;P;B	0.53035	0.443;0.716;0.343	T	0.80892	-0.1179	10	0.52906	T	0.07	.	13.6724	0.62434	1.0:0.0:0.0:0.0	.	671;680;680	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	P	680	ENSP00000303830:L680P;ENSP00000342838:L680P	ENSP00000303830:L680P	L	-	2	0	INSR	7103929	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	8.677000	0.91203	2.121000	0.65114	0.487000	0.48397	CTG		0.547	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			G	7152929	A	G	7152929	3	3	179	1	0	0	0	0	1	0	0	0	7775	188	7	3	2161	3	INSR	19	7152929	Missense_Mutation	SNP	A	TCGA-B0-5094-01A-01D-1421-08	3960425	7152929	51976054	74	10447											
GDF15	9518	broad.mit.edu;hgsc.bcm.edu	37	19	18499472	18499472	+	Silent	SNP	G	G	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr19:18499472G>T	ENST00000252809.3	+	2	686	c.654G>T	c.(652-654)gcG>gcT	p.A218A	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	218					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.A218A(1)		kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CGGTCCGCGCGTCGCTGGAAG	0.736											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											15	17	16					19																	18499472		2157	4251	6408	SO:0001819	synonymous_variant	9518			BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"prostate differentiation factor"	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.654G>T	19.37:g.18499472G>T		726	O14629|P78360|Q9BWA0|Q9NRT0	Silent	SNP	ENST00000252809.3	37	CCDS12376.1																																																																																				0.736	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		T	18499472	G	T	18499472	2	4	179	1	0	0	0	0	0	0	0	1	6315	1132	40	4		4	GDF15	19	18499472	Silent	SNP	G	TCGA-B0-5094-01A-01D-1421-08	11346543	18499472	40629511	75	10448											
PRX	57716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40900919	40900919	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr19:40900919C>A	ENST00000324001.7	-	7	3610	c.3340G>T	c.(3340-3342)Ggg>Tgg	p.G1114W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1114	Glu-rich (acidic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G1114W(1)		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)			GCCACAGCCCCCTCTGCCCTC	0.672																																																1	Substitution - Missense(1)	kidney(1)											55	54	54					19																	40900919		2203	4300	6503	SO:0001583	missense	57716			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.3340G>T	19.37:g.40900919C>A	ENSP00000326018:p.Gly1114Trp		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	4.847	0.157440	0.09236	.	.	ENSG00000105227	ENST00000324001	T	0.01538	4.79	3.82	1.6	0.23607	.	0.281293	0.25427	N	0.030758	T	0.05273	0.0140	L	0.58810	1.83	0.20638	N	0.999879	D	0.65815	0.995	P	0.61477	0.889	T	0.13019	-1.0525	10	0.87932	D	0	-22.4553	7.4557	0.27266	0.0:0.7794:0.0:0.2206	.	1114	Q9BXM0	PRAX_HUMAN	W	1114	ENSP00000326018:G1114W	ENSP00000326018:G1114W	G	-	1	0	PRX	45592759	0.000000	0.05858	0.032000	0.17829	0.006000	0.05464	-0.539000	0.06113	0.829000	0.34733	-0.339000	0.08088	GGG		0.672	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		A	40900919	C	A	40900919	3	1	179	1	0	0	0	0	1	0	0	0	12647	623	22	4	1049	4	PRX	19	40900919	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	22401447	40900919	18228064	76	10449											
B3GNT8	593	broad.mit.edu;hgsc.bcm.edu	37	19	41931921	41931921	+	IGR	SNP	C	C	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr19:41931921C>T	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_5'Flank|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Missense_Mutation_p.A255T	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.A255T(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCCAGCAGGGCAGGGGTGTGT	0.657																																																1	Substitution - Missense(1)	kidney(1)											41	44	43					19																	41931921		2203	4300	6503	SO:0001628	intergenic_variant	374907			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931921C>T			B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	6.301	0.423571	0.11928	.	.	ENSG00000177191	ENST00000321702	T	0.41065	1.01	4.09	3.05	0.35203	.	0.301812	0.28859	N	0.013903	T	0.30293	0.0760	L	0.39514	1.22	0.09310	N	0.999997	B	0.31989	0.35	B	0.35607	0.206	T	0.12553	-1.0543	10	0.18710	T	0.47	.	6.4623	0.21964	0.0:0.7809:0.0:0.2191	.	255	Q7Z7M8	B3GN8_HUMAN	T	255	ENSP00000312700:A255T	ENSP00000312700:A255T	A	-	1	0	B3GNT8	46623761	0.003000	0.15002	0.008000	0.14137	0.056000	0.15407	1.241000	0.32743	1.076000	0.40961	0.655000	0.94253	GCC		0.657	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		T	41931921	C	T	41931921	1	4	179	0	1	0	0	0	0	0	0	0	1263	710	25	2		2	B3GNT8	19	41931921	IGR	SNP	C	TCGA-B0-5094-01A-01D-1421-08	1031002	41931921	17197062	77	10450											
MAFB	9935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39317054	39317054	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr20:39317054G>A	ENST00000373313.2	-	1	826	c.437C>T	c.(436-438)cCg>cTg	p.P146L	MAFB_ENST00000396967.1_Missense_Mutation_p.P146L	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	146					brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P146L(1)		kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				GCCGGCGCCCGGGTACGCgtg	0.716			T	IGH@	MM																																		Dom	yes		20	20q11.2-q13.1	9935	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)		L	1	Substitution - Missense(1)	kidney(1)											9	11	10					20																	39317054		2156	4239	6395	SO:0001583	missense	9935			AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"Kreisler (mouse) maf-related leucine zipper homolog"	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.437C>T	20.37:g.39317054G>A	ENSP00000362410:p.Pro146Leu		B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	37	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968956	0.34754	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.97455	-4.39;-4.39	4.86	3.9	0.45041	.	1.291000	0.05356	U	0.532809	D	0.92580	0.7643	N	0.08118	0	0.80722	D	1	D	0.58268	0.982	B	0.41571	0.36	D	0.84232	0.0467	10	0.44086	T	0.13	-6.9199	11.5934	0.50959	0.0:0.0:0.678:0.322	.	146	Q9Y5Q3	MAFB_HUMAN	L	146	ENSP00000362410:P146L;ENSP00000380167:P146L	ENSP00000362410:P146L	P	-	2	0	MAFB	38750468	0.997000	0.39634	0.937000	0.37676	0.850000	0.48378	1.699000	0.37804	1.046000	0.40249	0.456000	0.33151	CCG		0.716	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2			A	39317054	G	A	39317054	3	1	179	1	0	0	0	0	1	0	0	0	9160	1116	39	1	538	1	MAFB	20	39317054	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08		39317054	23708466	78	10451											
ZNFX1	57169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47886935	47886935	+	Missense_Mutation	SNP	T	T	C	rs377494376		TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr20:47886935T>C	ENST00000396105.1	-	3	1660	c.1414A>G	c.(1414-1416)Agg>Ggg	p.R472G	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R472G|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R472G	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	472							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R472G(2)|p.R276G(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCTGCTCCCTGTTAGATACG	0.488																																																3	Substitution - Missense(3)	kidney(3)											110	108	109					20																	47886935		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1414A>G	20.37:g.47886935T>C	ENSP00000379412:p.Arg472Gly		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.276981	0.59758	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.90004	-2.46;-2.6;-2.6;-1.45;-2.1	5.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.94608	0.8262	M	0.88310	2.945	0.58432	D	0.999997	D	0.76494	0.999	D	0.68353	0.957	D	0.94659	0.7846	10	0.62326	D	0.03	-24.1664	13.8706	0.63617	0.0:0.0:0.7178:0.2822	.	472	Q9P2E3	ZNFX1_HUMAN	G	472;472;472;472;472;276	ENSP00000360819:R472G;ENSP00000360817:R472G;ENSP00000379412:R472G;ENSP00000360809:R472G;ENSP00000413800:R276G	ENSP00000360809:R472G	R	-	1	2	ZNFX1	47320342	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.598000	0.67585	0.730000	0.32425	-0.286000	0.09958	AGG		0.488	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		C	47886935	T	C	47886935	3	2	179	1	0	0	0	0	1	0	0	0	18210	1579	55	3	4390	3	ZNFX1	20	47886935	Missense_Mutation	SNP	T	TCGA-B0-5094-01A-01D-1421-08	8569881	47886935	15138585	79	10452											
NRIP1	8204	hgsc.bcm.edu	37	21	16338779	16338779	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr21:16338779A>T	ENST00000400202.1	-	3	2447	c.1735T>A	c.(1735-1737)Tcc>Acc	p.S579T	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Missense_Mutation_p.S579T|NRIP1_ENST00000318948.4_Missense_Mutation_p.S579T			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	579	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TATGGTGGGGAATTCCATTTG	0.443																																																0													238	236	236					21																	16338779		2203	4300	6503	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1735T>A	21.37:g.16338779A>T	ENSP00000383063:p.Ser579Thr		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834138	0.32421	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.21734	1.99;1.99;1.99	6.02	0.622	0.17648	.	0.324995	0.29424	N	0.012198	T	0.14570	0.0352	L	0.46157	1.445	0.32333	N	0.560809	B	0.06786	0.001	B	0.09377	0.004	T	0.06373	-1.0830	10	0.52906	T	0.07	-14.8948	3.1943	0.06628	0.6425:0.1185:0.1255:0.1135	.	579	P48552	NRIP1_HUMAN	T	579	ENSP00000383060:S579T;ENSP00000383063:S579T;ENSP00000327213:S579T	ENSP00000327213:S579T	S	-	1	0	NRIP1	15260650	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.023000	0.41040	0.145000	0.18977	0.533000	0.62120	TCC		0.443	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		T	16338779	A	T	16338779	3	4	179	1	0	0	0	0	1	0	0	0	10654	246	9	5	1745	5	NRIP1	21	16338779	Missense_Mutation	SNP	A	TCGA-B0-5094-01A-01D-1421-08		16338779	31791116	80	10453											
RFPL3	10738	hgsc.bcm.edu	37	22	32754354	32754355	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr22:32754354_32754355insG	ENST00000249007.4	+	1	501_502	c.296_297insG	c.(295-300)ctggttfs	p.V100fs	RFPL3_ENST00000382088.3_Frame_Shift_Ins_p.V71fs|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Frame_Shift_Ins_p.V71fs	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	100							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CTAGAGAGGCTGGTTTCCCACA	0.525																																																0																																										SO:0001589	frameshift_variant	10738			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.298dupG	22.37:g.32754356_32754356dupG	ENSP00000249007:p.Val100fs		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Frame_Shift_Ins	INS	ENST00000249007.4	37	CCDS43011.1																																																																																				0.525	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		G	32754355	-	G	32754354	7	5	179	1	0	1	1	0	0	0	0	0	13261	1580	55	0	298	0	RFPL3	22	32754354	Frame_Shift_Ins	INS	-	TCGA-B0-5094-01A-01D-1421-08		32754354	18550212	81	10454											
KLHDC7B	113730	broad.mit.edu;hgsc.bcm.edu	37	22	50987493	50987493	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chr22:50987493C>A	ENST00000395676.2	+	1	1032	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	300								p.P201T(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCAGGGCTCCCCAGGGGCCC	0.741																																																1	Substitution - Missense(1)	kidney(1)											17	21	19					22																	50987493		1588	3419	5007	SO:0001583	missense	113730			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.898C>A	22.37:g.50987493C>A	ENSP00000379034:p.Pro300Thr			Missense_Mutation	SNP	ENST00000395676.2	37	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	5.998	0.368130	0.11352	.	.	ENSG00000130487	ENST00000395676	D	0.81579	-1.51	3.92	-7.84	0.01196	.	.	.	.	.	T	0.47637	0.1456	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47898	-0.9081	9	0.11794	T	0.64	.	8.4421	0.32820	0.2645:0.5563:0.1792:0.0	.	300	Q96G42	KLD7B_HUMAN	T	300	ENSP00000379034:P300T	ENSP00000379034:P300T	P	+	1	0	KLHDC7B	49334359	0.000000	0.05858	0.000000	0.03702	0.817000	0.46193	-0.991000	0.03728	-1.333000	0.02247	0.306000	0.20318	CCC		0.741	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		A	50987493	C	A	50987493	3	1	179	1	0	0	0	0	1	0	0	0	8363	623	22	4	900	4	KLHDC7B	22	50987493	Missense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08	18233139	50987493	317073	82	10455											
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu	37	X	53227796	53227796	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chrX:53227796C>A	ENST00000375401.3	-	17	2924	c.2392G>T	c.(2392-2394)Gag>Tag	p.E798*	KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E757*|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.E731*|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E798*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E797*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	798					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E798*(1)|p.E731*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCTTCAGACTCTAGTGCCCTC	0.527			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Nonsense(2)	kidney(2)											37	34	35					X																	53227796		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2392G>T	X.37:g.53227796C>A	ENSP00000364550:p.Glu798*		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	45	11.319086	0.99546	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	5.03	5.03	0.67393	.	0.097907	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.8722	14.8392	0.70212	0.0:1.0:0.0:0.0	.	.	.	.	X	731;798;797;798;757	.	ENSP00000364528:E798X	E	-	1	0	KDM5C	53244521	0.157000	0.22836	0.994000	0.49952	0.944000	0.59088	1.956000	0.40382	2.086000	0.62901	0.523000	0.50628	GAG		0.527	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53227796	C	A	53227796	4	1	179	1	0	0	0	0	0	1	0	0	8137	922	32	4	2428	4	KDM5C	23	53227796	Nonsense_Mutation	SNP	C	TCGA-B0-5094-01A-01D-1421-08		53227796	102042764	83	10456											
AIFM1	9131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129265667	129265667	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5094-01A-01D-1421-08	TCGA-B0-5094-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8b910c03-86a9-488d-80b4-1f8c214c2941	b4e4630a-b38c-4b62-b0e8-d73f0e3b4e47	g.chrX:129265667G>T	ENST00000287295.3	-	14	1786	c.1556C>A	c.(1555-1557)tCt>tAt	p.S519Y	AIFM1_ENST00000319908.3_Missense_Mutation_p.S515Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.S232Y|AIFM1_ENST00000440263.1_Missense_Mutation_p.S167Y|AIFM1_ENST00000460436.2_Missense_Mutation_p.S180Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	519					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.S515Y(1)|p.S519Y(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CTCTGTGGCAGATTTGGGGTT	0.488																																																2	Substitution - Missense(2)	kidney(2)											215	194	201					X																	129265667		2203	4300	6503	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1556C>A	X.37:g.129265667G>T	ENSP00000287295:p.Ser519Tyr		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359174	0.61403	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.83673	0.86;0.86;-1.75;0.86;-0.75	5.04	5.04	0.67666	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.168777	0.53938	D	0.000052	D	0.82504	0.5051	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.995	D;D;D	0.69654	0.965;0.965;0.923	T	0.79553	-0.1756	10	0.21540	T	0.41	-9.4587	13.5081	0.61495	0.0:0.2761:0.7239:0.0	.	232;515;519	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	Y	180;232;515;167;519	ENSP00000431222:S180Y;ENSP00000316320:S232Y;ENSP00000315122:S515Y;ENSP00000405879:S167Y;ENSP00000287295:S519Y	ENSP00000287295:S519Y	S	-	2	0	AIFM1	129093348	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	5.984000	0.70548	2.323000	0.78572	0.600000	0.82982	TCT		0.488	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			T	129265667	G	T	129265667	3	4	179	1	0	0	0	0	1	0	0	0	426	942	33	4	297	4	AIFM1	23	129265667	Missense_Mutation	SNP	G	TCGA-B0-5094-01A-01D-1421-08	76037871	129265667	26004893	84	10457											
TIE1	7075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43773140	43773140	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:43773140G>C	ENST00000372476.3	+	6	889	c.810G>C	c.(808-810)gaG>gaC	p.E270D	TIE1_ENST00000441333.2_Missense_Mutation_p.E270D|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000538015.1_Missense_Mutation_p.E270D	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	270	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E270D(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGCCAGGAGCAGTGCCCAG	0.637																																																1	Substitution - Missense(1)	kidney(1)											39	45	43					1																	43773140		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.810G>C	1.37:g.43773140G>C	ENSP00000361554:p.Glu270Asp		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394784	0.42512	.	.	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.42900	0.96;1.17;0.96	5.11	-3.31	0.04988	.	0.197287	0.24742	N	0.035972	T	0.36635	0.0974	M	0.79258	2.445	0.80722	D	1	P;P;P;P	0.52316	0.682;0.799;0.952;0.682	B;B;B;B	0.41271	0.079;0.152;0.352;0.079	T	0.38564	-0.9655	10	0.72032	D	0.01	.	7.1205	0.25442	0.4875:0.1137:0.3988:0.0	.	225;270;270;270	B4DTW8;B5A952;B5A950;P35590	.;.;.;TIE1_HUMAN	D	270	ENSP00000361554:E270D;ENSP00000401903:E270D;ENSP00000440063:E270D	ENSP00000361554:E270D	E	+	3	2	TIE1	43545727	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	0.740000	0.26188	-0.673000	0.05259	-0.494000	0.04653	GAG		0.637	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		C	43773140	G	C	43773140	3	2	180	1	0	0	0	0	1	0	0	0	15898	962	34	4	832	4	TIE1	1	43773140	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08		43773140	205477481	1	10458											
SLAMF7	57823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160719769	160719769	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:160719769A>G	ENST00000368043.3	+	3	572	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	SLAMF7_ENST00000368042.3_Missense_Mutation_p.I72V|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458104.2_Missense_Mutation_p.I72V|SLAMF7_ENST00000458602.2_Missense_Mutation_p.I72V|SLAMF7_ENST00000359331.4_Missense_Mutation_p.I179V|SLAMF7_ENST00000441662.2_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	179	Ig-like C2-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I179V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TAATGGGTCCATCCTCCCCAT	0.527																																																1	Substitution - Missense(1)	kidney(1)											90	94	93					1																	160719769		2203	4300	6503	SO:0001583	missense	57823			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.535A>G	1.37:g.160719769A>G	ENSP00000357022:p.Ile179Val		A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	ENST00000368043.3	37	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.696702	0.00725	.	.	ENSG00000026751	ENST00000368043;ENST00000368042;ENST00000458602;ENST00000458104;ENST00000359331	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.16	-1.96	0.07525	Immunoglobulin-like (1);	1.171350	0.05924	N	0.633989	T	0.06735	0.0172	N	0.25380	0.74	0.09310	N	1	B;B;P;B;P;B	0.35551	0.28;0.1;0.453;0.095;0.509;0.153	B;B;B;B;B;B	0.38056	0.13;0.038;0.172;0.12;0.264;0.096	T	0.10064	-1.0646	10	0.06625	T	0.88	-5.2182	4.7708	0.13155	0.4249:0.0:0.4175:0.1576	.	72;72;72;72;179;179	B4DVL7;B4DWA3;B4DW98;Q9NQ25-2;A8K3U1;Q9NQ25	.;.;.;.;.;SLAF7_HUMAN	V	179;72;72;72;179	ENSP00000357022:I179V;ENSP00000357021:I72V;ENSP00000409965:I72V;ENSP00000403294:I72V;ENSP00000352281:I179V	ENSP00000352281:I179V	I	+	1	0	SLAMF7	158986393	0.053000	0.20554	0.001000	0.08648	0.075000	0.17131	0.018000	0.13422	-0.525000	0.06391	0.528000	0.53228	ATC		0.527	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181		G	160719769	A	G	160719769	3	3	180	1	0	0	0	0	1	0	0	0	14375	217	8	3	545	3	SLAMF7	1	160719769	Missense_Mutation	SNP	A	TCGA-B0-5095-01A-01D-1421-08	116946629	160719769	88530852	2	10459											
C1orf112	55732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169773348	169773348	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:169773348G>C	ENST00000286031.6	+	6	1145	c.445G>C	c.(445-447)Gat>Cat	p.D149H	C1orf112_ENST00000359326.4_Missense_Mutation_p.D149H|C1orf112_ENST00000456684.1_Missense_Mutation_p.D207H|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.D120H	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	149								p.D149H(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCCTTTAGTAGATGACAATGA	0.368																																																1	Substitution - Missense(1)	kidney(1)											131	131	131					1																	169773348		2203	4300	6503	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.445G>C	1.37:g.169773348G>C	ENSP00000286031:p.Asp149His		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973747	0.34848	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T	0.46819	0.86;0.86	4.99	3.09	0.35607	.	0.369172	0.31589	N	0.007398	T	0.27933	0.0688	M	0.63428	1.95	0.09310	N	1	P;P;P;P	0.48503	0.911;0.875;0.875;0.911	P;P;P;B	0.45681	0.459;0.49;0.467;0.365	T	0.14671	-1.0464	10	0.54805	T	0.06	-12.2885	4.3434	0.11120	0.2572:0.0:0.5759:0.1669	.	120;91;149;207	B4E0A9;B4DGF2;Q9NSG2;B4DRP7	.;.;CA112_HUMAN;.	H	120;149;207;149	ENSP00000352276:D149H;ENSP00000286031:D149H	ENSP00000286031:D149H	D	+	1	0	C1orf112	168039972	0.984000	0.35163	0.215000	0.23724	0.621000	0.37620	2.247000	0.43151	1.235000	0.43724	0.655000	0.94253	GAT		0.368	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		C	169773348	G	C	169773348	3	2	180	1	0	0	0	0	1	0	0	0	1987	942	33	4	459	4	C1orf112	1	169773348	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	9053579	169773348	79477273	3	10460											
BAT2L2	23215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171510332	171510332	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:171510332G>A	ENST00000338920.4	+	16	3958	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K	PRRC2C_ENST00000392078.3_Missense_Mutation_p.E1243K|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E1241K|PRRC2C_ENST00000367742.3_Missense_Mutation_p.E1243K	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1241					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E1243K(2)									ACAGCGAGAAGAAAGTGAAAC	0.488																																																2	Substitution - Missense(2)	kidney(2)											59	60	60					1																	171510332		2203	4300	6503	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3721G>A	1.37:g.171510332G>A	ENSP00000343629:p.Glu1241Lys		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668948	0.47677	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	5.66	5.66	0.87406	.	0.000000	0.47852	D	0.000206	T	0.07188	0.0182	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.34675	-0.9819	10	0.45353	T	0.12	.	19.7628	0.96329	0.0:0.0:1.0:0.0	.	1241	Q9Y520-4	.	K	1243;1242;1241;1243;1241;998	ENSP00000375928:E1243K;ENSP00000410219:E1241K;ENSP00000356716:E1243K;ENSP00000343629:E1241K	ENSP00000343629:E1241K	E	+	1	0	PRRC2C	169776956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.407000	0.97325	2.653000	0.90120	0.563000	0.77884	GAA		0.488	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		A	171510332	G	A	171510332	3	1	180	1	0	0	0	0	1	0	0	0	1321	943	33	2	3779	2	BAT2L2	1	171510332	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	1736984	171510332	77740289	4	10461											
OR2G2	81470	broad.mit.edu;ucsc.edu	37	1	247752478	247752478	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:247752478C>A	ENST00000320065.1	+	1	817	c.817C>A	c.(817-819)Cag>Aag	p.Q273K	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q273K(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATCCAGGGACCAGGGCAAGTT	0.473																																																1	Substitution - Missense(1)	kidney(1)											142	135	138					1																	247752478		2203	4300	6503	SO:0001583	missense	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.817C>A	1.37:g.247752478C>A	ENSP00000326349:p.Gln273Lys		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857313	0.51376	.	.	ENSG00000177489	ENST00000320065	T	0.00137	8.68	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.221310	0.22775	U	0.055798	T	0.00241	0.0007	L	0.38953	1.18	0.09310	N	0.999999	P	0.51933	0.949	P	0.60609	0.877	T	0.61515	-0.7047	10	0.45353	T	0.12	.	9.5446	0.39273	0.2099:0.7901:0.0:0.0	.	273	Q8NGZ5	OR2G2_HUMAN	K	273	ENSP00000326349:Q273K	ENSP00000326349:Q273K	Q	+	1	0	OR2G2	245819101	0.000000	0.05858	0.990000	0.47175	0.923000	0.55619	0.254000	0.18314	2.206000	0.71126	0.591000	0.81541	CAG		0.473	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			A	247752478	C	A	247752478	3	1	180	1	0	0	0	0	1	0	0	0	11000	595	21	4	819	4	OR2G2	1	247752478	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08	76242146	247752478	1498143	5	10462											
OR2W3	343171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	248059809	248059809	+	Silent	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr1:248059809G>A	ENST00000360358.3	+	1	921	c.921G>A	c.(919-921)ggG>ggA	p.G307G	OR2W3_ENST00000537741.1_Silent_p.G307G	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G307G(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCTTCTGGGGAAGAGAGAGC	0.517																																																1	Substitution - coding silent(1)	kidney(1)											31	31	31					1																	248059809		2203	4300	6503	SO:0001819	synonymous_variant	343171			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.921G>A	1.37:g.248059809G>A			Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	CCDS31099.1																																																																																				0.517	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		A	248059809	G	A	248059809	2	1	180	1	0	0	0	0	0	0	0	1	11035	1161	41	2		2	OR2W3	1	248059809	Silent	SNP	G	TCGA-B0-5095-01A-01D-1421-08	307331	248059809	1190812	6	10463											
CAD	790	hgsc.bcm.edu;ucsc.edu	37	2	27454852	27454853	+	In_Frame_Ins	INS	-	-	GGA			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr2:27454852_27454853insGGA	ENST00000403525.1	+	16	2360_2361	c.2216_2217insGGA	c.(2215-2220)ttggag>ttGGAggag	p.740_741insE	CAD_ENST00000264705.4_In_Frame_Ins_p.803_804insE|CAD_ENST00000464159.1_3'UTR			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATCAGGAGTTGGAGACTCCAA	0.525																																																0																																										SO:0001652	inframe_insertion	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2217_2219dupGGA	2.37:g.27454853_27454855dupGGA	ENSP00000384510:p.Glu740_Glu740dup		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	In_Frame_Ins	INS	ENST00000403525.1	37																																																																																					0.525	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			GGA	27454853	-	GGA	27454852	7	5	180	1	0	1	1	0	0	0	0	0	2567	1821	63	0	2471	0	CAD	2	27454852	In_Frame_Ins	INS	-	TCGA-B0-5095-01A-01D-1421-08		27454852	215744521	7	10464											
THADA	63892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43800089	43800089	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr2:43800089C>A	ENST00000405006.4	-	12	2123	c.1772G>T	c.(1771-1773)aGg>aTg	p.R591M	THADA_ENST00000415080.2_Missense_Mutation_p.R301M|THADA_ENST00000330266.7_Missense_Mutation_p.R301M|THADA_ENST00000405975.2_Missense_Mutation_p.R591M|THADA_ENST00000403856.1_Missense_Mutation_p.R591M|THADA_ENST00000402360.2_Missense_Mutation_p.R591M|THADA_ENST00000404790.1_Missense_Mutation_p.R591M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	591								p.R591M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGAGCCCCCCTGCTATTACA	0.443																																																1	Substitution - Missense(1)	kidney(1)											76	75	76					2																	43800089		1891	4105	5996	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1772G>T	2.37:g.43800089C>A	ENSP00000385995:p.Arg591Met		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330322	0.81690	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;1.23;1.22;1.2	5.37	4.48	0.54585	Armadillo-type fold (1);	0.050450	0.85682	D	0.000000	T	0.76884	0.4050	M	0.63843	1.955	0.39255	D	0.964105	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.997;0.986;0.997	T	0.80939	-0.1158	10	0.66056	D	0.02	-3.586	16.1401	0.81517	0.0:0.8662:0.1338:0.0	.	591;591;591;301;591	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	M	301;591;591;301;591;591;591;591	ENSP00000331105:R301M;ENSP00000386088:R591M;ENSP00000416048:R301M;ENSP00000385995:R591M;ENSP00000385441:R591M;ENSP00000384266:R591M;ENSP00000385469:R591M	ENSP00000331105:R301M	R	-	2	0	THADA	43653593	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.726000	0.47302	1.249000	0.43950	0.591000	0.81541	AGG		0.443	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		A	43800089	C	A	43800089	3	1	180	1	0	0	0	0	1	0	0	0	15845	681	24	4	4197	4	THADA	2	43800089	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08	16345237	43800089	199399284	8	10465											
NEB	4703	broad.mit.edu	37	2	152346999	152346999	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr2:152346999C>T	ENST00000172853.10	-	147	19763	c.19616G>A	c.(19615-19617)cGa>cAa	p.R6539Q	NEB_ENST00000397336.2_Missense_Mutation_p.R370Q|NEB_ENST00000509223.2_Missense_Mutation_p.R308Q|NEB_ENST00000397345.3_Missense_Mutation_p.R8395Q|NEB_ENST00000604864.1_Missense_Mutation_p.R8395Q|NEB_ENST00000409198.1_Missense_Mutation_p.R6539Q|NEB_ENST00000427231.2_Missense_Mutation_p.R8395Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000603639.1_Missense_Mutation_p.R8395Q			P20929	NEBU_HUMAN	nebulin	6539	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.R6539Q(1)|p.R8395Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTGGCAGATCGTGACTGCTC	0.532																																																2	Substitution - Missense(2)	kidney(2)											52	53	53					2																	152346999		2032	4207	6239	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19616G>A	2.37:g.152346999C>T	ENSP00000172853:p.Arg6539Gln		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.527895|5.527895	0.96446|0.96446	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	.|T;T;T;T;T;T;T	.|0.06371	.|3.43;3.46;3.46;3.31;3.43;4.02;4.18	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26048|0.26048	0.0635|0.0635	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;D;D;B;D;P	.|0.89917	.|0.999;0.992;0.999;0.079;1.0;0.874	.|D;P;P;B;D;B	.|0.79108	.|0.978;0.806;0.848;0.013;0.992;0.254	T|T	0.00284|0.00284	-1.1848|-1.1848	5|10	.|0.54805	.|T	.|0.06	.|.	18.7735|18.7735	0.91901|0.91901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|308;370;308;6539;2877;8395	.|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.|.;.;.;NEBU_HUMAN;.;.	N|Q	529;636|6539;8395;8395;2495;2877;6539;370;308	.|ENSP00000386259:R6539Q;ENSP00000380505:R8395Q;ENSP00000416578:R8395Q;ENSP00000410961:R2877Q;ENSP00000172853:R6539Q;ENSP00000380497:R370Q;ENSP00000427083:R308Q	.|ENSP00000172853:R6539Q	D|R	-|-	1|2	0|0	NEB|NEB	152055245|152055245	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.851000|0.851000	0.48451|0.48451	7.762000|7.762000	0.85270|0.85270	2.526000|2.526000	0.85167|0.85167	0.462000|0.462000	0.41574|0.41574	GAT|CGA		0.532	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152346999	C	T	152346999	3	4	180	1	0	0	0	0	1	0	0	0	10304	884	31	1	405	1	NEB	2	152346999	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08	108546910	152346999	90852374	9	10466											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10191470	10191470	+	Splice_Site	SNP	G	G	C	rs5030817		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr3:10191470G>C	ENST00000256474.2	+	3	1303		c.e3-1		VHL_ENST00000345392.2_Splice_Site|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(23)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCCCTTCCAGTGTATACTCT	0.493		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	23	Unknown(23)	kidney(21)|soft_tissue(2)	GRCh37	CS071276|CS941547|CS961706	VHL	S	rs5030817						88	80	83					3																	10191470		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.464-1G>C	3.37:g.10191470G>C			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862719	0.32884	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2774	0.73753	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10166470	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	7.062000	0.76706	2.535000	0.85469	0.655000	0.94253	.		0.493	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	C	10191470	G	C	10191470	5	2	180	1	0	0	0	0	0	0	1	0	17167	1043	36	4	473	4	VHL	3	10191470	Splice_Site	SNP	G	TCGA-B0-5095-01A-01D-1421-08		10191470	187830960	10	10467											
FBLN2	2199	broad.mit.edu	37	3	13649672	13649672	+	Splice_Site	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr3:13649672A>G	ENST00000295760.7	+	3	1486	c.1417A>G	c.(1417-1419)Agg>Ggg	p.R473G	FBLN2_ENST00000404922.3_Splice_Site_p.R473G|FBLN2_ENST00000492059.1_Splice_Site_p.R473G|FBLN2_ENST00000535798.1_Splice_Site_p.R499G	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	473	Anaphylatoxin-like 1. {ECO:0000255|PROSITE-ProRule:PRU00022}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.R473G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CAACGTCTGCAGGTAGGGTGG	0.632																																																1	Substitution - Missense(1)	kidney(1)											51	55	54					3																	13649672		2149	4252	6401	SO:0001630	splice_region_variant	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1418+1A>G	3.37:g.13649672A>G			B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	A	9.888	1.203333	0.22121	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.39	5.39	0.77823	Anaphylatoxin/fibulin (4);	0.123002	0.56097	D	0.000024	T	0.36552	0.0971	N	0.20986	0.625	0.80722	D	1	P;D;D	0.89917	0.465;1.0;1.0	B;D;D	0.85130	0.115;0.997;0.997	T	0.17806	-1.0357	10	0.51188	T	0.08	.	13.6476	0.62290	1.0:0.0:0.0:0.0	.	473;473;499	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	G	499;473;473;473	ENSP00000445705:R499G;ENSP00000384169:R473G;ENSP00000295760:R473G;ENSP00000420042:R473G	ENSP00000295760:R473G	R	+	1	2	FBLN2	13624673	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	6.087000	0.71362	2.045000	0.60652	0.383000	0.25322	AGG		0.632	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	Missense_Mutation	G	13649672	A	G	13649672	5	3	180	1	0	0	0	0	0	0	1	0	5701	202	7	3	113	3	FBLN2	3	13649672	Splice_Site	SNP	A	TCGA-B0-5095-01A-01D-1421-08	3458202	13649672	184372758	11	10468											
CMC1	152100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	28361101	28361101	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr3:28361101A>G	ENST00000466830.1	+	4	501	c.302A>G	c.(301-303)aAg>aGg	p.K101R	CMC1_ENST00000469102.1_3'UTR|AZI2_ENST00000295748.3_5'Flank|CMC1_ENST00000423894.1_Missense_Mutation_p.K71R	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1	101						mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.K101R(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)	5						AGGCTACAGAAGCTTCCAACA	0.348																																																1	Substitution - Missense(1)	kidney(1)											68	68	68					3																	28361101		2202	4298	6500	SO:0001583	missense	152100			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"chromosome 3 open reading frame 68", "COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.302A>G	3.37:g.28361101A>G	ENSP00000418348:p.Lys101Arg		Q68DJ7	Missense_Mutation	SNP	ENST00000466830.1	37	CCDS33722.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419902	0.42918	.	.	ENSG00000187118	ENST00000466830;ENST00000423894	.	.	.	5.82	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.58428	1.81	0.80722	D	1	B	0.15719	0.014	B	0.09377	0.004	T	0.52230	-0.8603	9	0.30078	T	0.28	-20.2047	10.1117	0.42565	0.8673:0.0:0.1327:0.0	.	101	Q7Z7K0	COXAM_HUMAN	R	101;71	.	ENSP00000404581:K71R	K	+	2	0	CMC1	28336105	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.032000	0.70918	2.225000	0.72522	0.460000	0.39030	AAG		0.348	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341087.1	NM_182523		G	28361101	A	G	28361101	3	3	180	1	0	0	0	0	1	0	0	0	3579	72	3	3	316	3	CMC1	3	28361101	Missense_Mutation	SNP	A	TCGA-B0-5095-01A-01D-1421-08	14711429	28361101	169661329	12	10469											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52437782	52437782	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr3:52437782G>C	ENST00000460680.1	-	13	1850	c.1379C>G	c.(1378-1380)tCa>tGa	p.S460*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.S442*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S460*(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGAGGAATTGAGAGGTCCTT	0.587			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Substitution - Nonsense(2)	eye(1)|kidney(1)											72	74	73					3																	52437782		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1379C>G	3.37:g.52437782G>C	ENSP00000417132:p.Ser460*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910675	0.92107	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	6.05	6.05	0.98169	.	0.275715	0.37348	N	0.002126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.0195	0.80472	0.0:0.1335:0.8665:0.0	.	.	.	.	X	460;442	.	ENSP00000296288:S442X	S	-	2	0	BAP1	52412822	1.000000	0.71417	0.890000	0.34922	0.933000	0.57130	5.347000	0.65998	2.880000	0.98712	0.655000	0.94253	TCA		0.587	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			C	52437782	G	C	52437782	4	2	180	1	0	0	0	0	0	1	0	0	1311	1294	45	4	830	4	BAP1	3	52437782	Nonsense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	24076681	52437782	145584648	13	10470											
EAF2	55840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121591511	121591511	+	Silent	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr3:121591511C>A	ENST00000273668.2	+	5	683	c.612C>A	c.(610-612)tcC>tcA	p.S204S	EAF2_ENST00000451944.2_Silent_p.S204S	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	204	Necessary for transactivation activity.|Ser-rich.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.S204S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		ATTGCAAATCCTCTACTTCTG	0.393																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)											1	Substitution - coding silent(1)	kidney(1)											118	111	114					3																	121591511		2203	4299	6502	SO:0001819	synonymous_variant	55840			AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.612C>A	3.37:g.121591511C>A			Q9NZ82	Silent	SNP	ENST00000273668.2	37	CCDS3006.1																																																																																				0.393	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		A	121591511	C	A	121591511	2	1	180	1	0	0	0	0	0	0	0	1	4878	668	24	4		4	EAF2	3	121591511	Silent	SNP	C	TCGA-B0-5095-01A-01D-1421-08	69153729	121591511	76430919	14	10471											
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	73979600	73979600	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr4:73979600C>G	ENST00000358602.4	-	24	4426	c.4310G>C	c.(4309-4311)tGt>tCt	p.C1437S	ANKRD17_ENST00000330838.6_Missense_Mutation_p.C1186S|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.C1324S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1437					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.C1437S(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGACTCCATACAAAGATGACA	0.363																																																1	Substitution - Missense(1)	kidney(1)											127	127	127					4																	73979600		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4310G>C	4.37:g.73979600C>G	ENSP00000351416:p.Cys1437Ser		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687132	0.88639	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.69561	1.7;-0.37;-0.41	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000002	T	0.78861	0.4350	L	0.58510	1.815	0.80722	D	1	B;D;D;D;P	0.61080	0.361;0.989;0.989;0.981;0.826	B;D;D;D;B	0.75020	0.303;0.985;0.985;0.966;0.258	T	0.75266	-0.3378	10	0.28530	T	0.3	.	18.8032	0.92027	0.0:1.0:0.0:0.0	.	958;1436;1186;1437;1324	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	S	1437;1186;1324	ENSP00000351416:C1437S;ENSP00000332265:C1186S;ENSP00000427151:C1324S	ENSP00000332265:C1186S	C	-	2	0	ANKRD17	74198464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.501000	0.84356	0.555000	0.69702	TGT		0.363	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		G	73979600	C	G	73979600	3	3	180	1	0	0	0	0	1	0	0	0	646	478	17	4	3545	4	ANKRD17	4	73979600	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08		73979600	117174676	15	10472											
TMEM184C	55751	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	148545244	148545244	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr4:148545244G>A	ENST00000296582.3	+	3	860	c.286G>A	c.(286-288)Gat>Aat	p.D96N	TMEM184C_ENST00000508208.1_Missense_Mutation_p.D96N	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	96						integral component of membrane (GO:0016021)		p.D96N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTACAGTTTAGATAGTGTAAG	0.269																																																1	Substitution - Missense(1)	kidney(1)											98	99	98					4																	148545244		2195	4296	6491	SO:0001583	missense	55751			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.286G>A	4.37:g.148545244G>A	ENSP00000296582:p.Asp96Asn		D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107091	0.77096	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.41400	1.0;1.0	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	L	0.52573	1.65	0.80722	D	1	D	0.67145	0.996	D	0.63113	0.911	T	0.40059	-0.9583	10	0.11182	T	0.66	-33.1617	19.7999	0.96502	0.0:0.0:1.0:0.0	.	96	Q9NVA4	T184C_HUMAN	N	96	ENSP00000296582:D96N;ENSP00000425940:D96N	ENSP00000296582:D96N	D	+	1	0	TMEM184C	148764694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.537000	0.98070	2.753000	0.94483	0.557000	0.71058	GAT		0.269	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		A	148545244	G	A	148545244	3	1	180	1	0	0	0	0	1	0	0	0	16111	942	33	2	296	2	TMEM184C	4	148545244	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	74565644	148545244	42609032	16	10473											
CDKN2AIP	55602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	184367368	184367368	+	Silent	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr4:184367368G>C	ENST00000504169.1	+	3	738	c.531G>C	c.(529-531)acG>acC	p.T177T	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	177	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)	p.T177T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACAGTTCAACGTGTATAGGGT	0.468																																																1	Substitution - coding silent(1)	kidney(1)											93	92	92					4																	184367368		2203	4300	6503	SO:0001819	synonymous_variant	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.531G>C	4.37:g.184367368G>C			Q8TBM5|Q9NYH0	Silent	SNP	ENST00000504169.1	37	CCDS34110.1																																																																																				0.468	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		C	184367368	G	C	184367368	2	2	180	1	0	0	0	0	0	0	0	1	3164	1132	40	4		4	CDKN2AIP	4	184367368	Silent	SNP	G	TCGA-B0-5095-01A-01D-1421-08	35822124	184367368	6786908	17	10474											
GDF9	2661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132197841	132197841	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:132197841C>T	ENST00000378673.2	-	3	1671	c.805G>A	c.(805-807)Gac>Aac	p.D269N	GDF9_ENST00000296875.2_Missense_Mutation_p.D269N|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	269					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.D269N(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCACTTGTGTCATTCAAATAT	0.458																																																1	Substitution - Missense(1)	kidney(1)											72	71	71					5																	132197841		2203	4300	6503	SO:0001583	missense	2661				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.805G>A	5.37:g.132197841C>T	ENSP00000367942:p.Asp269Asn		Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189302	0.94923	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	D;D	0.87103	-2.21;-2.21	5.51	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	M	0.87827	2.91	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94201	0.7450	10	0.87932	D	0	.	14.6627	0.68885	0.0:0.9283:0.0:0.0717	.	269	O60383	GDF9_HUMAN	N	269	ENSP00000367942:D269N;ENSP00000296875:D269N	ENSP00000296875:D269N	D	-	1	0	GDF9	132225740	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.688000	0.68227	2.890000	0.99128	0.650000	0.86243	GAC		0.458	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		T	132197841	C	T	132197841	3	4	180	1	0	0	0	0	1	0	0	0	6321	826	29	2	563	2	GDF9	5	132197841	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08		132197841	48717419	18	10475											
GFRA3	2676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137593484	137593484	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:137593484G>A	ENST00000274721.3	-	4	875	c.629C>T	c.(628-630)cCc>cTc	p.P210L	GFRA3_ENST00000378362.3_Missense_Mutation_p.P179L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	210					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)	p.P210L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGCGCGTGGGGCTCGGCGGC	0.731																																																1	Substitution - Missense(1)	kidney(1)											20	22	21					5																	137593484		2189	4280	6469	SO:0001583	missense	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.629C>T	5.37:g.137593484G>A	ENSP00000274721:p.Pro210Leu		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	G	7.558	0.664137	0.14710	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.65732	-0.17;-0.17	4.81	-0.43	0.12299	GDNF/GAS1 (2);	0.599272	0.17279	N	0.180093	T	0.45256	0.1333	L	0.44542	1.39	0.09310	N	1	P;P	0.45212	0.822;0.853	B;B	0.37239	0.157;0.244	T	0.35674	-0.9779	10	0.36615	T	0.2	-2.981	7.8474	0.29433	0.0:0.1236:0.4265:0.4499	.	179;210	O60609-2;O60609	.;GFRA3_HUMAN	L	210;179	ENSP00000274721:P210L;ENSP00000367613:P179L	ENSP00000274721:P210L	P	-	2	0	GFRA3	137621383	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	1.377000	0.34317	-0.010000	0.14271	-0.165000	0.13383	CCC		0.731	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		A	137593484	G	A	137593484	3	1	180	1	0	0	0	0	1	0	0	0	6351	1232	43	2	593	2	GFRA3	5	137593484	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	5395643	137593484	43321776	19	10476											
NR3C1	2908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	142779613	142779613	+	Silent	SNP	A	A	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:142779613A>C	ENST00000343796.2	-	2	1785	c.792T>G	c.(790-792)gtT>gtG	p.V264V	NR3C1_ENST00000394464.2_Silent_p.V264V|NR3C1_ENST00000415690.2_Silent_p.V264V|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000231509.3_Silent_p.V264V|NR3C1_ENST00000394466.2_Silent_p.V264V|NR3C1_ENST00000503201.1_Silent_p.V264V|NR3C1_ENST00000504572.1_Silent_p.V264V|NR3C1_ENST00000424646.2_Silent_p.V264V	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	264	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.V264V(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GGCTTGACAAAACCAGATCTC	0.423																																																2	Substitution - coding silent(2)	kidney(2)											140	146	144					5																	142779613		2203	4300	6503	SO:0001819	synonymous_variant	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.792T>G	5.37:g.142779613A>C			A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	CCDS4278.1																																																																																				0.423	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			C	142779613	A	C	142779613	2	2	180	1	0	0	0	0	0	0	0	1	10632	1	1	5		5	NR3C1	5	142779613	Silent	SNP	A	TCGA-B0-5095-01A-01D-1421-08	5186129	142779613	38135647	20	10477											
GABRA1	2554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	161302567	161302567	+	Splice_Site	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:161302567C>T	ENST00000428797.2	+	7	833	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	GABRA1_ENST00000023897.6_Splice_Site_p.L160L|GABRA1_ENST00000393943.4_Splice_Site_p.L160L|GABRA1_ENST00000420560.1_Splice_Site_p.L160L|GABRA1_ENST00000437025.2_Splice_Site_p.L160L|GABRA1_ENST00000444819.1_Splice_Site_p.L160L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	160					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L160L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCCCTTAAGGCTGACAGTGAG	0.363																																																1	Substitution - coding silent(1)	kidney(1)											159	155	156					5																	161302567		2203	4300	6503	SO:0001630	splice_region_variant	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.477-1C>T	5.37:g.161302567C>T			D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	CCDS4357.1																																																																																				0.363	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	Silent	T	161302567	C	T	161302567	5	4	180	1	0	0	0	0	0	0	1	0	6162	811	28	2	496	2	GABRA1	5	161302567	Splice_Site	SNP	C	TCGA-B0-5095-01A-01D-1421-08	18522954	161302567	19612693	21	10478											
ODZ2	57451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	167687305	167687305	+	Missense_Mutation	SNP	G	G	A	rs534586794		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:167687305G>A	ENST00000518659.1	+	28	7489	c.7450G>A	c.(7450-7452)Gtg>Atg	p.V2484M	TENM2_ENST00000545108.1_Missense_Mutation_p.V2483M|TENM2_ENST00000520394.1_Missense_Mutation_p.V2245M|TENM2_ENST00000519204.1_Missense_Mutation_p.V2363M|TENM2_ENST00000403607.2_Missense_Mutation_p.V2308M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2484					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.V2363M(1)|p.V2484M(1)|p.V2317M(1)									AAGCTGGCTTGTGATGTTTGG	0.413																																																3	Substitution - Missense(3)	kidney(3)											138	126	130					5																	167687305		1906	4136	6042	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7450G>A	5.37:g.167687305G>A	ENSP00000429430:p.Val2484Met		Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	18.65	3.670384	0.67814	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89485	-2.05;-2.04;-2.15;-2.5;-2.52	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	M	0.82923	2.615	0.49582	D	0.999808	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.999;0.997;0.991	D	0.94714	0.7895	10	0.49607	T	0.09	.	18.8615	0.92273	0.0:0.0:1.0:0.0	.	2483;2484;2245	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	2484;2483;2363;2245;2308	ENSP00000429430:V2484M;ENSP00000438635:V2483M;ENSP00000428964:V2363M;ENSP00000427874:V2245M;ENSP00000384905:V2308M	ENSP00000384905:V2308M	V	+	1	0	ODZ2	167619883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.876000	0.87215	2.456000	0.83038	0.655000	0.94253	GTG		0.413	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167687305	G	A	167687305	3	1	180	1	0	0	0	0	1	0	0	0	10837	1377	48	2	7533	2	ODZ2	5	167687305	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	6384738	167687305	13227955	22	10479											
STC2	8614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	172755100	172755100	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:172755100C>A	ENST00000265087.4	-	1	1406	c.97G>T	c.(97-99)Ggt>Tgt	p.G33C		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	33					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.G33C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTGGGGACCCTCGGGTGGG	0.652																																																1	Substitution - Missense(1)	kidney(1)											100	105	103					5																	172755100		2203	4300	6503	SO:0001583	missense	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.97G>T	5.37:g.172755100C>A	ENSP00000265087:p.Gly33Cys			Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511790	0.64522	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.17	4.31	0.51392	.	0.145941	0.64402	D	0.000007	T	0.51822	0.1697	L	0.36672	1.1	0.39437	D	0.967187	P	0.51147	0.942	P	0.52514	0.701	T	0.56511	-0.7967	9	0.62326	D	0.03	-8.4479	9.822	0.40887	0.0:0.8428:0.0:0.1572	.	33	O76061	STC2_HUMAN	C	33	.	ENSP00000265087:G33C	G	-	1	0	STC2	172687706	0.935000	0.31712	0.989000	0.46669	0.564000	0.35744	1.715000	0.37971	1.428000	0.47296	-0.140000	0.14226	GGT		0.652	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		A	172755100	C	A	172755100	3	1	180	1	0	0	0	0	1	0	0	0	15281	623	22	4	827	4	STC2	5	172755100	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08	5067795	172755100	8160160	23	10480											
PRELID1	27166	broad.mit.edu;hgsc.bcm.edu	37	5	176731056	176731056	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:176731056C>A	ENST00000303204.4	+	1	282	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	RAB24_ENST00000393611.2_5'Flank|PRELID1_ENST00000502670.1_3'UTR|PRELID1_ENST00000503216.1_Missense_Mutation_p.Q24K|RAB24_ENST00000303251.6_5'Flank|RAB24_ENST00000303270.6_5'Flank			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	24					apoptotic process (GO:0006915)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of cellular respiration (GO:1901857)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of T cell apoptotic process (GO:0070234)|regulation of membrane lipid distribution (GO:0097035)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of T cell differentiation (GO:0045580)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.Q24K(1)		endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCCTTCTGGCAGCGGTACCC	0.587																																																1	Substitution - Missense(1)	kidney(1)											37	33	34					5																	176731056		2203	4300	6503	SO:0001583	missense	27166			BC013748	CCDS4415.1, CCDS64328.1	5q35.3	2010-01-18			ENSG00000169230	ENSG00000169230			30255	protein-coding gene	gene with protein product	"protein of relevant evolutionary and lymphoid interest", "px19-like protein"	605733				10784606, 14640972	Standard	NM_013237		Approved	CGI-106, PX19, PRELI	uc003mfx.4	Q9Y255	OTTHUMG00000130847	ENST00000303204.4:c.70C>A	5.37:g.176731056C>A	ENSP00000302114:p.Gln24Lys		B2R5F7|D6RD25|Q549N2|Q9UI13|Q9UJS9	Missense_Mutation	SNP	ENST00000303204.4	37	CCDS4415.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528736	0.85706	.	.	ENSG00000169230	ENST00000303204;ENST00000503216	T;T	0.16457	2.34;2.34	4.72	4.72	0.59763	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	L	0.42245	1.32	0.80722	D	1	B;B	0.22276	0.067;0.067	B;B	0.25614	0.062;0.048	T	0.04078	-1.0979	10	0.25751	T	0.34	-6.2288	16.4652	0.84077	0.0:1.0:0.0:0.0	.	24;24	D6RD25;Q9Y255	.;PRLD1_HUMAN	K	24	ENSP00000302114:Q24K;ENSP00000427097:Q24K	ENSP00000302114:Q24K	Q	+	1	0	PRELID1	176663662	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.885000	0.75606	2.171000	0.68590	0.462000	0.41574	CAG		0.587	PRELID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253414.1	NM_013237		A	176731056	C	A	176731056	3	1	180	1	0	0	0	0	1	0	0	0	12476	711	25	4	72	4	PRELID1	5	176731056	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08	3975956	176731056	4184204	24	10481											
TBC1D9B	23061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179301968	179301968	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr5:179301968A>T	ENST00000356834.3	-	12	2157	c.2120T>A	c.(2119-2121)cTg>cAg	p.L707Q	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.L707Q	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	707						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.L707Q(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGGCGTCCAGGACGGCCAG	0.632																																																2	Substitution - Missense(2)	kidney(2)											63	60	61					5																	179301968		2203	4300	6503	SO:0001583	missense	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2120T>A	5.37:g.179301968A>T	ENSP00000349291:p.Leu707Gln		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687951	0.88639	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.52295	0.67;0.67	5.29	5.29	0.74685	Rab-GAP/TBC domain (3);	0.000000	0.64402	D	0.000002	T	0.81470	0.4829	H	0.99026	4.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89232	0.3578	10	0.87932	D	0	-15.6926	15.2315	0.73395	1.0:0.0:0.0:0.0	.	707;707;707	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	Q	707	ENSP00000349291:L707Q;ENSP00000347375:L707Q	ENSP00000347375:L707Q	L	-	2	0	TBC1D9B	179234574	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.248000	0.95456	1.999000	0.58509	0.402000	0.26972	CTG		0.632	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		T	179301968	A	T	179301968	3	4	180	1	0	0	0	0	1	0	0	0	15633	188	7	5	1676	5	TBC1D9B	5	179301968	Missense_Mutation	SNP	A	TCGA-B0-5095-01A-01D-1421-08	2570912	179301968	1613292	25	10482											
SLC29A1	2030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44198152	44198152	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr6:44198152C>T	ENST00000393841.1	+	7	1014	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	SLC29A1_ENST00000313248.7_Missense_Mutation_p.P254S|SLC29A1_ENST00000371724.1_Missense_Mutation_p.P175S|SLC29A1_ENST00000371740.5_Missense_Mutation_p.P175S|SLC29A1_ENST00000371708.1_Missense_Mutation_p.P175S|SLC29A1_ENST00000393844.1_Missense_Mutation_p.P175S|SLC29A1_ENST00000427851.2_Missense_Mutation_p.P175S|SLC29A1_ENST00000371755.3_Missense_Mutation_p.P175S|SLC29A1_ENST00000371713.1_Missense_Mutation_p.P175S|SLC29A1_ENST00000371731.1_Missense_Mutation_p.P175S|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	175					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.P175S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CTACACGGCCCCCATCATGAG	0.627																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.523C>T	6.37:g.44198152C>T	ENSP00000377424:p.Pro175Ser		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099668	0.76983	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	L	0.53561	1.675	0.58432	D	0.999998	P;P	0.44044	0.825;0.717	P;P	0.46299	0.511;0.492	T	0.74844	-0.3526	10	0.32370	T	0.25	-2.5969	17.6367	0.88124	0.0:1.0:0.0:0.0	.	254;175	B3KQV7;Q99808	.;S29A1_HUMAN	S	175;254;175;175;175;175;175;175;175;175	ENSP00000377427:P175S;ENSP00000319152:P254S;ENSP00000392668:P175S;ENSP00000360820:P175S;ENSP00000360805:P175S;ENSP00000360796:P175S;ENSP00000377424:P175S;ENSP00000360789:P175S;ENSP00000360778:P175S;ENSP00000360773:P175S	ENSP00000319152:P254S	P	+	1	0	SLC29A1	44306130	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.674000	0.68117	2.585000	0.87301	0.655000	0.94253	CCC		0.627	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			T	44198152	C	T	44198152	3	4	180	1	0	0	0	0	1	0	0	0	14540	623	22	2	541	2	SLC29A1	6	44198152	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08		44198152	126916915	26	10483											
TDRD6	221400	broad.mit.edu	37	6	46656688	46656688	+	Nonsense_Mutation	SNP	G	G	T	rs267601052		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr6:46656688G>T	ENST00000316081.6	+	1	823	c.823G>T	c.(823-825)Gag>Tag	p.E275*	TDRD6_ENST00000544460.1_Nonsense_Mutation_p.E275*|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	275					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.E275*(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGTCTCGCAGGAGATCCACCG	0.637																																																1	Substitution - Nonsense(1)	kidney(1)											31	29	30					6																	46656688		2202	4300	6502	SO:0001587	stop_gained	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.823G>T	6.37:g.46656688G>T	ENSP00000346065:p.Glu275*		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	37	6.081849	0.97267	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	6.07	6.07	0.98685	.	0.047416	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-6.4796	20.2543	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	X	275	.	ENSP00000346065:E275X	E	+	1	0	TDRD6	46764647	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.897000	0.92532	2.884000	0.98904	0.655000	0.94253	GAG		0.637	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		T	46656688	G	T	46656688	4	4	180	1	0	0	0	0	0	1	0	0	15739	1175	41	4	825	4	TDRD6	6	46656688	Nonsense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	2458536	46656688	124458379	27	10484											
FYN	2534	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	111983021	111983021	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr6:111983021G>T	ENST00000354650.3	-	14	2141	c.1535C>A	c.(1534-1536)aCt>aAt	p.T512N	FYN_ENST00000229471.4_Missense_Mutation_p.T457N|FYN_ENST00000356013.2_Missense_Mutation_p.T457N|FYN_ENST00000538466.1_Missense_Mutation_p.T509N|FYN_ENST00000368667.2_Missense_Mutation_p.T512N|FYN_ENST00000229470.5_Missense_Mutation_p.T460N|FYN_ENST00000368682.3_Missense_Mutation_p.T509N|FYN_ENST00000368678.4_Missense_Mutation_p.T509N	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	512	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.T509N(1)|p.T512N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GTACTCAAAAGTGGGGCGTTC	0.572																																																2	Substitution - Missense(2)	kidney(2)											142	149	147					6																	111983021		2203	4300	6503	SO:0001583	missense	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1535C>A	6.37:g.111983021G>T	ENSP00000346671:p.Thr512Asn		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047204	0.75846	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.81	5.81	0.92471	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.956;0.99;1.0	T	0.02471	-1.1154	10	0.87932	D	0	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	512;457;509	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	N	509;512;457;512;509;460;457;509;460	ENSP00000357671:T509N;ENSP00000346671:T512N;ENSP00000229471:T457N;ENSP00000357656:T512N;ENSP00000357667:T509N;ENSP00000229470:T460N;ENSP00000348295:T457N;ENSP00000440646:T509N	ENSP00000229470:T460N	T	-	2	0	FYN	112089714	1.000000	0.71417	0.929000	0.37066	0.972000	0.66771	9.841000	0.99482	2.752000	0.94435	0.557000	0.71058	ACT		0.572	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			T	111983021	G	T	111983021	3	4	180	1	0	0	0	0	1	0	0	0	6128	1029	36	4	82	4	FYN	6	111983021	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	65326333	111983021	59132046	28	10485											
SAMD3	154075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	130465867	130465867	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr6:130465867T>A	ENST00000368134.2	-	14	1969	c.1361A>T	c.(1360-1362)gAg>gTg	p.E454V	RP11-73O6.3_ENST00000609978.1_RNA|RP11-73O6.3_ENST00000415964.1_RNA|SAMD3_ENST00000457563.2_Missense_Mutation_p.E478V|SAMD3_ENST00000439090.2_Missense_Mutation_p.E454V|SAMD3_ENST00000437477.2_Missense_Mutation_p.E454V	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	454								p.E454V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGTGAGCCTCTCCCTTTCTAA	0.443																																																1	Substitution - Missense(1)	kidney(1)											62	62	62					6																	130465867		2203	4300	6503	SO:0001583	missense	154075			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1361A>T	6.37:g.130465867T>A	ENSP00000357116:p.Glu454Val		B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852708	0.51270	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	T;T;T;T	0.50277	0.77;0.75;0.77;0.77	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000011	T	0.52533	0.1740	M	0.64997	1.995	0.80722	D	1	D	0.64830	0.994	P	0.62089	0.898	T	0.52049	-0.8627	10	0.36615	T	0.2	.	14.0821	0.64932	0.0:0.0:0.0:1.0	.	454	Q8N6K7	SAMD3_HUMAN	V	454;478;454;454	ENSP00000357116:E454V;ENSP00000402092:E478V;ENSP00000403565:E454V;ENSP00000391163:E454V	ENSP00000357116:E454V	E	-	2	0	SAMD3	130507560	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	5.128000	0.64733	2.118000	0.64928	0.460000	0.39030	GAG		0.443	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		A	130465867	T	A	130465867	3	1	180	1	0	0	0	0	1	0	0	0	13826	1551	54	5	205	5	SAMD3	6	130465867	Missense_Mutation	SNP	T	TCGA-B0-5095-01A-01D-1421-08	18482846	130465867	40649200	29	10486											
GUSB	2990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	65439619	65439619	+	Missense_Mutation	SNP	C	C	T	rs377615121		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr7:65439619C>T	ENST00000304895.4	-	7	1268	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	GUSB_ENST00000421103.1_Missense_Mutation_p.A234T|GUSB_ENST00000345660.6_Missense_Mutation_p.A329T|GUSB_ENST00000476486.1_5'Flank	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	380					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.A380T(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GTACGGAAAGCGTTGGCACCA	0.592																																																1	Substitution - Missense(1)	kidney(1)						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92	84	87		1138	-3.9	0.5	7		87	0,8600		0,0,4300	no	missense	GUSB	NM_000181.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	380/652	65439619	1,13005	2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1138G>A	7.37:g.65439619C>T	ENSP00000302728:p.Ala380Thr		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926159	0.52759	2.27E-4	0.0	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95821	-3.82;-3.82;-3.82	4.52	-3.92	0.04155	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, family 2, conserved site (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.339317	0.35970	N	0.002875	D	0.94588	0.8256	L	0.53780	1.695	0.36633	D	0.876401	D;P	0.56287	0.975;0.805	P;B	0.50825	0.651;0.201	D	0.92952	0.6381	10	0.56958	D	0.05	.	19.0272	0.92937	0.8771:0.1229:0.0:0.0	.	234;380	E9PCV0;P08236	.;BGLR_HUMAN	T	380;234;329	ENSP00000302728:A380T;ENSP00000391390:A234T;ENSP00000340734:A329T	ENSP00000302728:A380T	A	-	1	0	GUSB	65077054	0.977000	0.34250	0.491000	0.27477	0.684000	0.39900	1.059000	0.30517	-0.470000	0.06901	-0.397000	0.06425	GCT		0.592	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		T	65439619	C	T	65439619	3	4	180	1	0	0	0	0	1	0	0	0	6904	768	27	1	841	1	GUSB	7	65439619	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08		65439619	93699044	30	10487											
EXOC4	60412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	133689775	133689775	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr7:133689775A>C	ENST00000253861.4	+	16	2488	c.2459A>C	c.(2458-2460)gAt>gCt	p.D820A	EXOC4_ENST00000541309.1_Missense_Mutation_p.D108A|EXOC4_ENST00000545148.1_Missense_Mutation_p.D430A|EXOC4_ENST00000539845.1_Missense_Mutation_p.D719A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	820					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.D820A(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CTCAACAAAGATATCAGCGCC	0.493																																																1	Substitution - Missense(1)	kidney(1)											137	128	131					7																	133689775		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2459A>C	7.37:g.133689775A>C	ENSP00000253861:p.Asp820Ala		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691067	0.68271	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	M	0.75777	2.31	0.80722	D	1	P;D;D	0.89917	0.891;0.998;1.0	P;D;D	0.74674	0.638;0.972;0.984	T	0.74572	-0.3621	9	0.21540	T	0.41	.	15.4801	0.75517	1.0:0.0:0.0:0.0	.	352;430;820	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	A	820;439;719;430;108	.	ENSP00000253861:D820A	D	+	2	0	EXOC4	133340315	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.637000	0.91014	2.061000	0.61500	0.402000	0.26972	GAT		0.493	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		C	133689775	A	C	133689775	3	2	180	1	0	0	0	0	1	0	0	0	5308	333	12	5	2530	5	EXOC4	7	133689775	Missense_Mutation	SNP	A	TCGA-B0-5095-01A-01D-1421-08	68250156	133689775	25448888	31	10488											
BMP1	649	hgsc.bcm.edu	37	8	22037969	22037969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr8:22037969G>A	ENST00000306385.5	+	8	1720	c.1050G>A	c.(1048-1050)tgG>tgA	p.W350*	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Nonsense_Mutation_p.W350*|BMP1_ENST00000397816.3_Nonsense_Mutation_p.W350*|BMP1_ENST00000397814.3_Nonsense_Mutation_p.W350*	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	350	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.W350*(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACTGCGTGTGGCGCATCTCTG	0.607																																																2	Substitution - Nonsense(2)	kidney(2)											199	171	180					8																	22037969		2203	4300	6503	SO:0001587	stop_gained	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1050G>A	8.37:g.22037969G>A	ENSP00000305714:p.Trp350*		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Nonsense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	38	7.281590	0.98186	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	.	.	.	5.66	5.66	0.87406	.	0.000000	0.36303	U	0.002662	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	.	.	.	X	350	.	ENSP00000306121:W350X	W	+	3	0	BMP1	22093914	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.809000	0.99208	2.665000	0.90641	0.561000	0.74099	TGG		0.607	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		A	22037969	G	A	22037969	4	1	180	1	0	0	0	0	0	1	0	0	1456	1212	42	2	1080	2	BMP1	8	22037969	Nonsense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08		22037969	124326053	32	10489											
ESRP1	54845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	95680227	95680227	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr8:95680227G>C	ENST00000433389.2	+	10	1172	c.982G>C	c.(982-984)Gtc>Ctc	p.V328L	ESRP1_ENST00000454170.2_Missense_Mutation_p.V328L|ESRP1_ENST00000358397.5_Missense_Mutation_p.V328L|ESRP1_ENST00000423620.2_Missense_Mutation_p.V328L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	328	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.V328L(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCAAGTCATTGTCCGCATGCG	0.483																																																2	Substitution - Missense(2)	kidney(2)											61	60	61					8																	95680227		1866	4093	5959	SO:0001583	missense	54845			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.982G>C	8.37:g.95680227G>C	ENSP00000405738:p.Val328Leu		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.96|14.96	2.690255|2.690255	0.48097|0.48097	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.06849	.|3.25;3.25;3.25;3.25;3.25	5.78|5.78	4.9|4.9	0.64082|0.64082	.|RNA recognition motif domain (2);	.|0.056016	.|0.64402	.|D	.|0.000001	T|T	0.16342|0.16342	0.0393|0.0393	L|L	0.60012|0.60012	1.86|1.86	0.80722|0.80722	D|D	1|1	.|P;B;B;B;B;B	.|0.35700	.|0.516;0.002;0.003;0.006;0.009;0.002	.|P;B;B;B;B;B	.|0.44647	.|0.456;0.016;0.04;0.041;0.063;0.028	T|T	0.01375|0.01375	-1.1371|-1.1371	5|10	.|0.40728	.|T	.|0.16	-9.6706|-9.6706	15.0244|15.0244	0.71656|0.71656	0.0682:0.0:0.9318:0.0|0.0682:0.0:0.9318:0.0	.|.	.|328;328;328;328;328;328	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	S|L	193|328;328;328;328;187	.|ENSP00000407349:V328L;ENSP00000405738:V328L;ENSP00000351168:V328L;ENSP00000402766:V328L;ENSP00000429125:V187L	.|ENSP00000351168:V328L	C|V	+|+	2|1	0|0	ESRP1|ESRP1	95749403|95749403	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	4.111000|4.111000	0.57838|0.57838	1.441000|1.441000	0.47550|0.47550	0.563000|0.563000	0.77884|0.77884	TGT|GTC		0.483	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		C	95680227	G	C	95680227	3	2	180	1	0	0	0	0	1	0	0	0	5260	1377	48	4	1020	4	ESRP1	8	95680227	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	73642258	95680227	50683795	33	10490											
ASB6	140459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	132401522	132401522	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr9:132401522A>G	ENST00000277458.4	-	4	635	c.470T>C	c.(469-471)cTc>cCc	p.L157P	ASB6_ENST00000277459.4_Intron|ASB6_ENST00000450050.2_Missense_Mutation_p.L78P|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	157					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.L157P(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				AAGGTCCAGGAGGCGCTGCAG	0.647																																																1	Substitution - Missense(1)	kidney(1)											71	74	73					9																	132401522		2203	4300	6503	SO:0001583	missense	140459				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.470T>C	9.37:g.132401522A>G	ENSP00000277458:p.Leu157Pro		Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332245	0.81801	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.80994	-1.44;-1.44	5.3	5.3	0.74995	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93281	0.6660	10	0.87932	D	0	-32.7263	14.4226	0.67193	1.0:0.0:0.0:0.0	.	78;157;157	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	P	157;78	ENSP00000277458:L157P;ENSP00000416172:L78P	ENSP00000277458:L157P	L	-	2	0	ASB6	131441343	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.905000	0.92613	1.993000	0.58246	0.459000	0.35465	CTC		0.647	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		G	132401522	A	G	132401522	3	3	180	1	0	0	0	0	1	0	0	0	1027	304	11	3	807	3	ASB6	9	132401522	Missense_Mutation	SNP	A	TCGA-B0-5095-01A-01D-1421-08		132401522	8811909	34	10491											
FRMD4A	55691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	13699459	13699459	+	Silent	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr10:13699459G>A	ENST00000357447.2	-	22	2498	c.2130C>T	c.(2128-2130)tcC>tcT	p.S710S	FRMD4A_ENST00000378503.1_Silent_p.S710S|FRMD4A_ENST00000358621.4_Silent_p.S695S	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	710	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.S710S(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ACTCCAGGCTGGAGCTCCGGT	0.677																																																1	Substitution - coding silent(1)	kidney(1)											23	25	24					10																	13699459		2196	4293	6489	SO:0001819	synonymous_variant	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2130C>T	10.37:g.13699459G>A			A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	CCDS7101.1																																																																																				0.677	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		A	13699459	G	A	13699459	2	1	180	1	0	0	0	0	0	0	0	1	6053	1335	47	2		2	FRMD4A	10	13699459	Silent	SNP	G	TCGA-B0-5095-01A-01D-1421-08		13699459	121835288	35	10492											
ZNF438	220929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	31134379	31134379	+	Silent	SNP	T	T	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr10:31134379T>C	ENST00000361310.3	-	7	2327	c.1998A>G	c.(1996-1998)ttA>ttG	p.L666L	ZNF438_ENST00000413025.1_Silent_p.L666L|ZNF438_ENST00000452305.1_Silent_p.L656L|ZNF438_ENST00000444692.2_Silent_p.L656L|ZNF438_ENST00000538351.2_Silent_p.L617L|ZNF438_ENST00000436087.2_Silent_p.L666L|ZNF438_ENST00000375311.1_Silent_p.L230L|ZNF438_ENST00000442986.1_Silent_p.L666L|ZNF438_ENST00000331737.6_Silent_p.L656L			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	666					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L666L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GAACATCAAGTAAATGAAATT	0.458																																																1	Substitution - coding silent(1)	kidney(1)											96	93	94					10																	31134379		2203	4300	6503	SO:0001819	synonymous_variant	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1998A>G	10.37:g.31134379T>C			A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	CCDS7168.1																																																																																				0.458	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		C	31134379	T	C	31134379	2	2	180	1	0	0	0	0	0	0	0	1	17915	1635	57	3		3	ZNF438	10	31134379	Silent	SNP	T	TCGA-B0-5095-01A-01D-1421-08	17434920	31134379	104400368	36	10493											
TM9SF3	56889	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	98312748	98312748	+	Silent	SNP	A	A	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr10:98312748A>T	ENST00000371142.4	-	6	945	c.729T>A	c.(727-729)atT>atA	p.I243I	TM9SF3_ENST00000490192.1_5'Flank	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	243						integral component of membrane (GO:0016021)		p.I243I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TTCTCATTAAAATCATTGAAA	0.299																																																1	Substitution - coding silent(1)	kidney(1)											105	100	102					10																	98312748		2203	4298	6501	SO:0001819	synonymous_variant	56889			AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.729T>A	10.37:g.98312748A>T			Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Silent	SNP	ENST00000371142.4	37	CCDS7450.1																																																																																				0.299	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		T	98312748	A	T	98312748	2	4	180	1	0	0	0	0	0	0	0	1	15984	10	1	5		5	TM9SF3	10	98312748	Silent	SNP	A	TCGA-B0-5095-01A-01D-1421-08	67178369	98312748	37221999	37	10494											
ZRANB1	54764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	126662867	126662867	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr10:126662867T>A	ENST00000359653.4	+	5	1698	c.1327T>A	c.(1327-1329)Tgc>Agc	p.C443S		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	443	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.C443S(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGCAGGAGACTGCCTACTTGA	0.468																																																1	Substitution - Missense(1)	kidney(1)											148	137	141					10																	126662867		2203	4300	6503	SO:0001583	missense	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1327T>A	10.37:g.126662867T>A	ENSP00000352676:p.Cys443Ser		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	T	32	5.187074	0.94923	.	.	ENSG00000019995	ENST00000359653	T	0.77358	-1.09	5.74	5.74	0.90152	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	M	0.82323	2.585	0.80722	D	1	D	0.63046	0.992	P	0.57371	0.819	D	0.88585	0.3139	10	0.62326	D	0.03	-26.151	16.0421	0.80691	0.0:0.0:0.0:1.0	.	443	Q9UGI0	ZRAN1_HUMAN	S	443	ENSP00000352676:C443S	ENSP00000352676:C443S	C	+	1	0	ZRANB1	126652857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.018000	0.88722	2.192000	0.70111	0.533000	0.62120	TGC		0.468	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		A	126662867	T	A	126662867	3	1	180	1	0	0	0	0	1	0	0	0	18227	1580	55	5	1345	5	ZRANB1	10	126662867	Missense_Mutation	SNP	T	TCGA-B0-5095-01A-01D-1421-08	28350119	126662867	8871880	38	10495											
FANCF	2188	broad.mit.edu;ucsc.edu	37	11	22646676	22646676	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr11:22646676G>C	ENST00000327470.3	-	1	711	c.681C>G	c.(679-681)caC>caG	p.H227Q	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	227					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.H227Q(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CAGGTGATTTGTGGATGCCGG	0.582			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										yes	Rec		Fanconi anaemia F	11	11p15	2188	"Fanconi anemia, complementation group F"		L	1	Substitution - Missense(1)	kidney(1)											61	69	66					11																	22646676		2203	4300	6503	SO:0001583	missense	2188	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.681C>G	11.37:g.22646676G>C	ENSP00000330875:p.His227Gln	757	Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	6.372	0.436694	0.12104	.	.	ENSG00000183161	ENST00000327470	T	0.27720	1.65	4.45	-1.01	0.10169	.	1.161200	0.06678	U	0.767515	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.29785	0.107	T	0.37798	-0.9690	10	0.23302	T	0.38	-5.8271	7.3527	0.26700	0.2334:0.3814:0.3852:0.0	.	227	Q9NPI8	FANCF_HUMAN	Q	227	ENSP00000330875:H227Q	ENSP00000330875:H227Q	H	-	3	2	FANCF	22603252	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.205000	0.17356	-0.392000	0.07751	-1.134000	0.01955	CAC		0.582	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		C	22646676	G	C	22646676	3	2	180	1	0	0	0	0	1	0	0	0	5669	1368	48	4	447	4	FANCF	11	22646676	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08		22646676	112359840	39	10496											
ROM1	6094	hgsc.bcm.edu	37	11	62381083	62381083	+	Frame_Shift_Del	DEL	T	T	-	rs527236104|rs137955062|rs71458427		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr11:62381083delT	ENST00000278833.3	+	1	871	c.330delT	c.(328-330)ggtfs	p.G113fs	EML3_ENST00000531557.1_5'Flank|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000529309.1_5'Flank|EML3_ENST00000394773.2_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000494176.2_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	113					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GCACGGCTGGTGGGGGGGGGC	0.682																																																0													14	17	16					11																	62381083		2194	4287	6481	SO:0001589	frameshift_variant	6094			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"Tetraspanins"	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.330delT	11.37:g.62381083delT	ENSP00000278833:p.Gly113fs		B2R978	Frame_Shift_Del	DEL	ENST00000278833.3	37	CCDS8024.1																																																																																				0.682	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327		-	62381083	T	-	62381083	7	5	180	1	0	1	0	1	0	0	0	0	13527	1683	59	0	332	0	ROM1	11	62381083	Frame_Shift_Del	DEL	T	TCGA-B0-5095-01A-01D-1421-08	39734407	62381083	72625433	40	10497											
PDE2A	5138	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	72300797	72300797	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr11:72300797G>A	ENST00000334456.5	-	11	1116	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	PDE2A_ENST00000444035.2_Missense_Mutation_p.P282S|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Missense_Mutation_p.P284S|PDE2A_ENST00000540345.1_Missense_Mutation_p.P282S|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000418754.2_Missense_Mutation_p.P176S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	291	GAF 1.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.P291S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGACTCACGGGAAAGCTGACC	0.577											OREG0021197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											39	41	40					11																	72300797		2200	4293	6493	SO:0001583	missense	5138			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.871C>T	11.37:g.72300797G>A	ENSP00000334910:p.Pro291Ser	1136	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	CCDS8216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.91|17.91	3.505349|3.505349	0.64410|0.64410	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807|ENST00000538299	T;T;T;T;T;T|.	0.74315|.	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83|.	4.59|4.59	4.59|4.59	0.56863|0.56863	GAF (2);|.	1.320840|.	0.05684|.	N|.	0.590965|.	T|T	0.66458|0.66458	0.2791|0.2791	M|M	0.71036|0.71036	2.16|2.16	0.48135|0.48135	D|D	0.999591|0.999591	B;B;B;B;B|.	0.34226|.	0.012;0.267;0.267;0.066;0.443|.	B;B;B;B;B|.	0.34346|.	0.007;0.124;0.124;0.052;0.18|.	T|T	0.66464|0.66464	-0.5917|-0.5917	10|5	0.62326|.	D|.	0.03|.	.|.	10.6231|10.6231	0.45491|0.45491	0.0935:0.0:0.9065:0.0|0.0935:0.0:0.9065:0.0	.|.	176;291;282;284;291|.	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646|.	.;PDE2A_HUMAN;.;.;.|.	S|F	291;282;360;284;176;282;115|52	ENSP00000334910:P291S;ENSP00000411657:P282S;ENSP00000442256:P284S;ENSP00000410310:P176S;ENSP00000446399:P282S;ENSP00000439077:P115S|.	ENSP00000334910:P291S|.	P|S	-|-	1|2	0|0	PDE2A|PDE2A	71978445|71978445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.373000|4.373000	0.59537|0.59537	2.375000|2.375000	0.81037|0.81037	0.591000|0.591000	0.81541|0.81541	CCC|TCC		0.577	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		A	72300797	G	A	72300797	3	1	180	1	0	0	0	0	1	0	0	0	11638	1174	41	2	2038	2	PDE2A	11	72300797	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	9919714	72300797	62705719	41	10498											
GDPD5	81544	broad.mit.edu	37	11	75160647	75160647	+	Silent	SNP	C	C	T	rs373585381		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr11:75160647C>T	ENST00000336898.3	-	8	1320	c.483G>A	c.(481-483)gcG>gcA	p.A161A	GDPD5_ENST00000526177.1_Silent_p.A23A|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Silent_p.A161A|GDPD5_ENST00000533784.1_Silent_p.A42A|GDPD5_ENST00000376282.3_Silent_p.A42A|GDPD5_ENST00000533805.1_5'UTR	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	161					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)	p.A161A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GCAGGAATGGCGCTGTGCCCT	0.617																																																1	Substitution - coding silent(1)	kidney(1)						C		1,4391		0,1,2195	36	32	34		483	-11.4	0	11		34	1,8575		0,1,4287	no	coding-synonymous	GDPD5	NM_030792.6		0,2,6482	TT,TC,CC		0.0117,0.0228,0.0154		161/606	75160647	2,12966	2196	4288	6484	SO:0001819	synonymous_variant	81544			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.483G>A	11.37:g.75160647C>T			Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP	ENST00000336898.3	37	CCDS8238.1																																																																																				0.617	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		T	75160647	C	T	75160647	2	4	180	1	0	0	0	0	0	0	0	1	6329	755	27	1		1	GDPD5	11	75160647	Silent	SNP	C	TCGA-B0-5095-01A-01D-1421-08	2859850	75160647	59845869	42	10499											
MLL	4297	hgsc.bcm.edu;ucsc.edu	37	11	118348895	118348896	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr11:118348895_118348896insT	ENST00000389506.5	+	5	3548_3549	c.3548_3549insT	c.(3547-3552)aatatafs	p.I1184fs	KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.I1184fs|KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.I1184fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1184					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GGTGGTCGCAATATAAAGAAGC	0.48																																																0																																										SO:0001589	frameshift_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3549dupT	11.37:g.118348896_118348896dupT	ENSP00000374157:p.Ile1184fs		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	ENST00000389506.5	37	CCDS31686.1																																																																																				0.48	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		T	118348896	-	T	118348895	7	5	180	1	0	1	1	0	0	0	0	0	9622	101	4	0	3566	0	MLL	11	118348895	Frame_Shift_Ins	INS	-	TCGA-B0-5095-01A-01D-1421-08	43188248	118348895	16657621	43	10500											
KCNA1	3736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	5021702	5021702	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:5021702G>T	ENST00000382545.3	+	2	2265	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	386					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.K386N(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TTGGAGGCAAGATCGTGGGCT	0.522																																																1	Substitution - Missense(1)	kidney(1)											303	282	289					12																	5021702		2203	4300	6503	SO:0001583	missense	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1158G>T	12.37:g.5021702G>T	ENSP00000371985:p.Lys386Asn		A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943639	0.53079	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.97959	-4.63	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98490	1.0609	10	0.87932	D	0	.	6.9923	0.24761	0.1828:0.0:0.8172:0.0	.	386	Q09470	KCNA1_HUMAN	N	386	ENSP00000371985:K386N	ENSP00000228858:K386N	K	+	3	2	KCNA1	4891963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.048000	0.49862	2.691000	0.91804	0.655000	0.94253	AAG		0.522	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		T	5021702	G	T	5021702	3	4	180	1	0	0	0	0	1	0	0	0	8003	933	33	4	1160	4	KCNA1	12	5021702	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08		5021702	128830193	44	10501											
LST-3TM12	338821	broad.mit.edu;ucsc.edu	37	12	21172281	21172281	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:21172281T>C	ENST00000421593.2	+	2	185	c.185T>C	c.(184-186)aTt>aCt	p.I62T	LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I62T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACTGGAAGTATTTTGATGGCT	0.328																																																1	Substitution - Missense(1)	kidney(1)											165	161	162					12																	21172281		2203	4300	6503	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.185T>C	12.37:g.21172281T>C	ENSP00000394168:p.Ile62Thr		Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	14.97	2.692935	0.48202	.	.	ENSG00000205754	ENST00000421593	T	0.45276	0.9	3.31	3.31	0.37934	.	0.349556	0.31636	N	0.007302	T	0.44117	0.1278	L	0.56769	1.78	0.80722	D	1	P	0.35821	0.523	B	0.41466	0.358	T	0.49652	-0.8917	10	0.62326	D	0.03	.	11.8252	0.52263	0.0:0.0:0.0:1.0	.	62	G3V0H7	.	T	62	ENSP00000394168:I62T	ENSP00000394168:I62T	I	+	2	0	SLCO1B7	21063548	0.665000	0.27466	0.907000	0.35723	0.720000	0.41350	4.134000	0.57990	1.358000	0.45922	0.413000	0.27773	ATT		0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		C	21172281	T	C	21172281	3	2	180	1	0	0	0	0	1	0	0	0	9068	1493	52	3	191	3	LST-3TM12	12	21172281	Missense_Mutation	SNP	T	TCGA-B0-5095-01A-01D-1421-08	16150579	21172281	112679614	45	10502											
ITPR2	3709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	26540497	26540497	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:26540497G>T	ENST00000381340.3	-	55	8143	c.7727C>A	c.(7726-7728)aCg>aAg	p.T2576K	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2576					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.T2576K(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AAATGAAACCGTTTTATTATC	0.348																																																1	Substitution - Missense(1)	kidney(1)											128	114	118					12																	26540497		1869	4107	5976	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7727C>A	12.37:g.26540497G>T	ENSP00000370744:p.Thr2576Lys		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137955	0.94517	.	.	ENSG00000123104	ENST00000381340	T	0.39406	1.08	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	L	0.60904	1.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60622	-0.7227	10	0.45353	T	0.12	.	18.736	0.91755	0.0:0.0:1.0:0.0	.	2576	Q14571	ITPR2_HUMAN	K	2576	ENSP00000370744:T2576K	ENSP00000370744:T2576K	T	-	2	0	ITPR2	26431764	1.000000	0.71417	0.838000	0.33150	0.905000	0.53344	9.570000	0.98174	2.637000	0.89404	0.563000	0.77884	ACG		0.348	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		T	26540497	G	T	26540497	3	4	180	1	0	0	0	0	1	0	0	0	7923	1145	40	4	390	4	ITPR2	12	26540497	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	5368216	26540497	107311398	46	10503											
KRT82	3888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52788815	52788815	+	Missense_Mutation	SNP	G	G	A	rs139996519		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:52788815G>A	ENST00000257974.2	-	9	1563	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	496	Tail.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.R496W(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTGGATTTCCGCCCGCTCCCA	0.642																																																1	Substitution - Missense(1)	kidney(1)						G	TRP/ARG	0,4406		0,0,2203	49	49	49		1486	-1.4	0	12	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT82	NM_033033.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	496/514	52788815	1,13005	2203	4300	6503	SO:0001583	missense	3888			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1486C>T	12.37:g.52788815G>A	ENSP00000257974:p.Arg496Trp			Missense_Mutation	SNP	ENST00000257974.2	37	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070250	0.55539	0.0	1.16E-4	ENSG00000161850	ENST00000257974	D	0.82984	-1.67	4.59	-1.42	0.08913	.	0.753921	0.10873	N	0.624709	T	0.60805	0.2297	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	B	0.41135	0.348	T	0.57505	-0.7800	10	0.39692	T	0.17	.	4.6736	0.12701	0.1724:0.0:0.3784:0.4492	.	496	Q9NSB4	KRT82_HUMAN	W	496	ENSP00000257974:R496W	ENSP00000257974:R496W	R	-	1	2	KRT82	51075082	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.809000	0.04510	-0.155000	0.11098	0.561000	0.74099	CGG		0.642	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		A	52788815	G	A	52788815	3	1	180	1	0	0	0	0	1	0	0	0	8498	1086	38	1	59	1	KRT82	12	52788815	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	26248318	52788815	81063080	47	10504											
PDE1B	5153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54962995	54962995	+	Silent	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:54962995G>A	ENST00000243052.3	+	4	691	c.255G>A	c.(253-255)ctG>ctA	p.L85L	PDE1B_ENST00000538346.1_Silent_p.L44L|PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000550620.1_Silent_p.L65L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	85					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.L85L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AGGACGAGCTGCAGGAGCTGC	0.642																																																1	Substitution - coding silent(1)	kidney(1)											70	73	72					12																	54962995		2203	4300	6503	SO:0001819	synonymous_variant	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.255G>A	12.37:g.54962995G>A			Q92825|Q96KP3	Silent	SNP	ENST00000243052.3	37	CCDS8882.1																																																																																				0.642	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			A	54962995	G	A	54962995	2	1	180	1	0	0	0	0	0	0	0	1	11636	1306	46	2		2	PDE1B	12	54962995	Silent	SNP	G	TCGA-B0-5095-01A-01D-1421-08	2174180	54962995	78888900	48	10505											
MYL6B	140465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56548877	56548877	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:56548877G>C	ENST00000553066.1	+	4	663	c.241G>C	c.(241-243)Gat>Cat	p.D81H	MYL6B_ENST00000552568.1_Missense_Mutation_p.D81H|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550443.1_Missense_Mutation_p.D81H|MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000207437.5_Missense_Mutation_p.D81H			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	81	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.D81H(1)		endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CCGAGTGGGGGATGGCAAGAT	0.577																																																1	Substitution - Missense(1)	kidney(1)											158	166	163					12																	56548877		2203	4300	6503	SO:0001583	missense	140465			M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"Myosins / Light chain", "EF-hand domain containing"	29823	protein-coding gene	gene with protein product	"myosin light chain 1 slow a"	609930	"myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.241G>C	12.37:g.56548877G>C	ENSP00000450385:p.Asp81His			Missense_Mutation	SNP	ENST00000553066.1	37	CCDS8905.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942008	0.73557	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437;ENST00000552568	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	4.28	4.28	0.50868	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92064	0.7485	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	D	0.94837	0.8001	10	0.87932	D	0	-13.9373	16.0117	0.80406	0.0:0.0:1.0:0.0	.	81;81	B4E368;P14649	.;MYL6B_HUMAN	H	81	ENSP00000450385:D81H;ENSP00000446643:D81H;ENSP00000207437:D81H;ENSP00000446965:D81H	ENSP00000207437:D81H	D	+	1	0	MYL6B	54835144	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.541000	0.82084	2.390000	0.81377	0.484000	0.47621	GAT		0.577	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407920.2	NM_002475		C	56548877	G	C	56548877	3	2	180	1	0	0	0	0	1	0	0	0	10054	1174	41	4	251	4	MYL6B	12	56548877	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	1585882	56548877	77303018	49	10506											
UHRF1BP1L	23074	broad.mit.edu	37	12	100496634	100496634	+	Splice_Site	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:100496634G>C	ENST00000279907.7	-	4	460	c.248C>G	c.(247-249)tCc>tGc	p.S83C	UHRF1BP1L_ENST00000356828.3_Splice_Site_p.S83C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	83								p.S83C(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTATCCAGGGACTAATAAAA	0.294																																																2	Substitution - Missense(2)	kidney(2)											103	97	99					12																	100496634		2203	4300	6503	SO:0001630	splice_region_variant	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.247-1C>G	12.37:g.100496634G>C			A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918608	0.33908	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	D;D	0.83075	-1.68;-1.68	5.01	4.1	0.47936	.	0.172867	0.52532	D	0.000068	T	0.79149	0.4397	N	0.05351	-0.065	0.52099	D	0.999944	D;B	0.65815	0.995;0.182	P;B	0.58873	0.847;0.102	T	0.79978	-0.1575	10	0.34782	T	0.22	-4.1356	15.2473	0.73513	0.0:0.1414:0.8586:0.0	.	83;83	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	C	83	ENSP00000279907:S83C;ENSP00000349285:S83C	ENSP00000279907:S83C	S	-	2	0	UHRF1BP1L	99020765	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	5.219000	0.65262	1.069000	0.40788	-0.282000	0.10007	TCC		0.294	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	Missense_Mutation	C	100496634	G	C	100496634	5	2	180	1	0	0	0	0	0	0	1	0	16974	1188	41	4	4242	4	UHRF1BP1L	12	100496634	Splice_Site	SNP	G	TCGA-B0-5095-01A-01D-1421-08	43947757	100496634	33355261	50	10507											
MAP1LC3B2	643246	broad.mit.edu;hgsc.bcm.edu	37	12	117013990	117013990	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr12:117013990delG	ENST00000556529.1	+	1	335	c.243delG	c.(241-243)ctgfs	p.L82fs	MAP1LC3B2_ENST00000306985.4_Frame_Shift_Del_p.L82fs			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	82					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						CCTTCTTCCTGTTGGTGAACG	0.453																																																0													111	110	110					12																	117013990		2203	4298	6501	SO:0001589	frameshift_variant	643246				CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.243delG	12.37:g.117013990delG	ENSP00000450524:p.Leu82fs			Frame_Shift_Del	DEL	ENST00000556529.1	37	CCDS41841.1																																																																																				0.453	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481		-	117013990	G	-	117013990	7	5	180	1	0	1	0	1	0	0	0	0	9234	1364	48	0	245	0	MAP1LC3B2	12	117013990	Frame_Shift_Del	DEL	G	TCGA-B0-5095-01A-01D-1421-08	16517356	117013990	16837905	51	10508											
RIN3	79890	hgsc.bcm.edu;ucsc.edu	37	14	93043822	93043824	+	Splice_Site	DEL	AGT	AGT	-			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	AGT	AGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr14:93043822_93043824delAGT	ENST00000216487.7	+	3	526	c.367delAGT	c.(367-369)agt>gt	p.S123del	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	123	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGAAAAGTCGAGTAAGTACCCAT	0.527																																																0																																										SO:0001630	splice_region_variant	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.367+1AGT>-	14.37:g.93043822_93043824delAGT			Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Frame_Shift_Del	DEL	ENST00000216487.7	37	CCDS32144.1																																																																																				0.527	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		In_Frame_Del	-	93043824	AGT	-	93043822	8	5	180	1	0	1	0	1	0	0	1	0	13379	318	11	0	377	0	RIN3	14	93043822	Splice_Site	DEL	AGT	TCGA-B0-5095-01A-01D-1421-08		93043822	14305718	52	10509											
RTL1	388015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	101351082	101351082	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr14:101351082T>C	ENST00000534062.1	-	1	102	c.44A>G	c.(43-45)cAt>cGt	p.H15R	MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	15					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.H15R(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGATTCTTATGCTCCATCAT	0.527																																																1	Substitution - Missense(1)	kidney(1)											36	34	35					14																	101351082		1568	3582	5150	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.44A>G	14.37:g.101351082T>C	ENSP00000435342:p.His15Arg		E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.263489	0.39995	.	.	ENSG00000254656	ENST00000534062	T	0.19806	2.12	3.48	-3.56	0.04626	.	.	.	.	.	T	0.04497	0.0123	N	0.02539	-0.55	0.20926	N	0.999826	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	9	0.02654	T	1	.	0.0742	0.00025	0.3203:0.2345:0.1746:0.2706	.	15	E9PKS8	.	R	15	ENSP00000435342:H15R	ENSP00000435342:H15R	H	-	2	0	RTL1	100420835	0.911000	0.30947	0.984000	0.44739	0.998000	0.95712	-0.639000	0.05446	-0.728000	0.04882	0.459000	0.35465	CAT		0.527	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		C	101351082	T	C	101351082	3	2	180	1	0	0	0	0	1	0	0	0	13730	1464	51	3	4036	3	RTL1	14	101351082	Missense_Mutation	SNP	T	TCGA-B0-5095-01A-01D-1421-08	8307260	101351082	5998458	53	10510											
PIAS1	8554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68434675	68434675	+	Splice_Site	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr15:68434675G>A	ENST00000249636.6	+	4	750	c.602G>A	c.(601-603)aGg>aAg	p.R201K	PIAS1_ENST00000545237.1_Splice_Site_p.R203K	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	201	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R201K(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GTCCAGTTAAGGTACAGTGCT	0.353																																																1	Substitution - Missense(1)	kidney(1)											51	48	49					15																	68434675		1817	4081	5898	SO:0001630	splice_region_variant	8554			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.602+1G>A	15.37:g.68434675G>A			B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451607	0.96205	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.48836	0.8;0.8	5.09	5.09	0.68999	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.74989	0.3789	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80598	-0.1311	10	0.87932	D	0	-11.4085	18.8568	0.92255	0.0:0.0:1.0:0.0	.	201;201	C5J4B4;O75925	.;PIAS1_HUMAN	K	201;203	ENSP00000249636:R201K;ENSP00000438574:R203K	ENSP00000249636:R201K	R	+	2	0	PIAS1	66221729	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.233000	0.95337	2.525000	0.85131	0.585000	0.79938	AGG		0.353	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2		Missense_Mutation	A	68434675	G	A	68434675	5	1	180	1	0	0	0	0	0	0	1	0	11877	1014	35	2	616	2	PIAS1	15	68434675	Splice_Site	SNP	G	TCGA-B0-5095-01A-01D-1421-08		68434675	34096717	54	10511											
UACA	55075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	70960389	70960389	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr15:70960389T>G	ENST00000322954.6	-	16	2819	c.2634A>C	c.(2632-2634)aaA>aaC	p.K878N	UACA_ENST00000379983.2_Missense_Mutation_p.K865N|UACA_ENST00000560441.1_Missense_Mutation_p.K863N|UACA_ENST00000539319.1_Missense_Mutation_p.K769N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	878					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.K865N(1)|p.K878N(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCTGTTAGTTTTGGCTAACG	0.294																																																2	Substitution - Missense(2)	kidney(2)											63	59	60					15																	70960389		2198	4298	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2634A>C	15.37:g.70960389T>G	ENSP00000314556:p.Lys878Asn		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	9.701	1.154468	0.21371	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.78364	-1.17;-1.17;-1.17	5.5	-0.777	0.10981	.	0.000000	0.64402	D	0.000003	D	0.83275	0.5219	M	0.67953	2.075	0.45676	D	0.998593	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.70487	0.969;0.931;0.931;0.957	T	0.80077	-0.1533	10	0.39692	T	0.17	-30.8342	12.332	0.55046	0.0:0.5019:0.0:0.4981	.	769;878;878;865	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	N	878;865;769	ENSP00000314556:K878N;ENSP00000369319:K865N;ENSP00000438667:K769N	ENSP00000314556:K878N	K	-	3	2	UACA	68747443	0.961000	0.32948	0.317000	0.25265	0.027000	0.11550	0.029000	0.13666	-0.312000	0.08741	-0.250000	0.11733	AAA		0.294	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			G	70960389	T	G	70960389	3	3	180	1	0	0	0	0	1	0	0	0	16829	1838	64	5	1632	5	UACA	15	70960389	Missense_Mutation	SNP	T	TCGA-B0-5095-01A-01D-1421-08	2525714	70960389	31571003	55	10512											
CDH8	1006	broad.mit.edu;hgsc.bcm.edu	37	16	61851427	61851427	+	Silent	SNP	C	C	A	rs569050495		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr16:61851427C>A	ENST00000577390.1	-	7	2187	c.1233G>T	c.(1231-1233)ggG>ggT	p.G411G	CDH8_ENST00000299345.6_Silent_p.G411G|CDH8_ENST00000577730.1_Silent_p.G411G|CDH8_ENST00000584337.1_Silent_p.G411G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.G411G(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAGTCACTTGCCCAATCACGG	0.423																																																1	Substitution - coding silent(1)	kidney(1)											90	82	85					16																	61851427		2203	4300	6503	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1233G>T	16.37:g.61851427C>A			B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.423	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		A	61851427	C	A	61851427	2	1	180	1	0	0	0	0	0	0	0	1	3118	726	26	4		4	CDH8	16	61851427	Silent	SNP	C	TCGA-B0-5095-01A-01D-1421-08		61851427	28503326	56	10513											
SCARF1	8578	broad.mit.edu	37	17	1540047	1540047	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr17:1540047C>T	ENST00000263071.4	-	10	1638	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E	SCARF1_ENST00000571272.1_Missense_Mutation_p.E518K|SCARF1_ENST00000348987.3_Missense_Mutation_p.G444E	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	530	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.G530E(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATCTGCCTCTCCAGACTCAGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											84	85	85					17																	1540047		2203	4300	6503	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1589G>A	17.37:g.1540047C>T	ENSP00000263071:p.Gly530Glu		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.372|9.372	1.070642|1.070642	0.20147|0.20147	.|.	.|.	ENSG00000074660|ENSG00000074660	ENST00000434376|ENST00000263071;ENST00000348987	.|T;T	.|0.31510	.|2.01;1.49	4.52|4.52	-0.0812|-0.0812	0.13703|0.13703	.|.	.|0.505200	.|0.16613	.|N	.|0.206827	T|T	0.37433|0.37433	0.1003|0.1003	.|.	.|.	.|.	0.37734|0.37734	D|D	0.925387|0.925387	B|D;B	0.10296|0.64830	0.003|0.994;0.002	B|D;B	0.08055|0.63192	0.003|0.912;0.006	T|T	0.35871|0.35871	-0.9771|-0.9771	7|9	0.07325|0.18276	T|T	0.83|0.48	-1.0666|-1.0666	7.3418|7.3418	0.26641|0.26641	0.0:0.4021:0.4517:0.1461|0.0:0.4021:0.4517:0.1461	.|.	518|444;530	Q14162-3|Q14162-2;Q14162	.|.;SREC_HUMAN	K|E	518|530;444	.|ENSP00000263071:G530E;ENSP00000323964:G444E	ENSP00000411167:E518K|ENSP00000263071:G530E	E|G	-|-	1|2	0|0	SCARF1|SCARF1	1486797|1486797	0.016000|0.016000	0.18221|0.18221	0.283000|0.283000	0.24790|0.24790	0.085000|0.085000	0.17905|0.17905	0.616000|0.616000	0.24344|0.24344	-0.023000|-0.023000	0.13963|0.13963	-1.270000|-1.270000	0.01421|0.01421	GAG|GGA		0.627	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		T	1540047	C	T	1540047	3	4	180	1	0	0	0	0	1	0	0	0	13889	864	30	2	911	2	SCARF1	17	1540047	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08		1540047	79655163	57	10514											
SLC47A2	146802	hgsc.bcm.edu;ucsc.edu	37	17	19606416	19606416	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr17:19606416delA	ENST00000325411.5	-	12	1241	c.1191delT	c.(1189-1191)tttfs	p.F397fs	SLC47A2_ENST00000350657.5_Frame_Shift_Del_p.F375fs|SLC47A2_ENST00000463318.1_Intron	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	397					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CATCATTGGTAAAAATATGCC	0.463																																																0													71	68	69					17																	19606416		2203	4300	6503	SO:0001589	frameshift_variant	146802			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1191delT	17.37:g.19606416delA	ENSP00000326671:p.Phe397fs		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Frame_Shift_Del	DEL	ENST00000325411.5	37	CCDS11211.1																																																																																				0.463	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		-	19606416	A	-	19606416	7	5	180	1	0	1	0	1	0	0	0	0	14654	359	13	0	641	0	SLC47A2	17	19606416	Frame_Shift_Del	DEL	A	TCGA-B0-5095-01A-01D-1421-08	18066369	19606416	61588794	58	10515											
UNC45B	146862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33501331	33501331	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr17:33501331G>C	ENST00000268876.5	+	14	2004	c.1907G>C	c.(1906-1908)tGc>tCc	p.C636S	UNC45B_ENST00000591048.1_Missense_Mutation_p.C555S|UNC45B_ENST00000394570.2_Missense_Mutation_p.C634S|UNC45B_ENST00000378449.1_Missense_Mutation_p.C555S|UNC45B_ENST00000433649.1_Missense_Mutation_p.C634S	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	636					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.C636S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCCCTGGCTTGCATGGTGAAA	0.572																																																1	Substitution - Missense(1)	kidney(1)											114	107	109					17																	33501331		2203	4300	6503	SO:0001583	missense	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1907G>C	17.37:g.33501331G>C	ENSP00000268876:p.Cys636Ser		Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201740	0.38905	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.64260	-0.09;-0.09;-0.09	4.73	4.73	0.59995	Armadillo-like helical (1);Armadillo-type fold (1);	0.107611	0.64402	D	0.000004	T	0.67078	0.2855	L	0.51422	1.61	0.44798	D	0.997807	P;D;P	0.60160	0.531;0.987;0.745	B;P;B	0.56916	0.199;0.809;0.218	T	0.60747	-0.7202	10	0.09084	T	0.74	-16.6289	17.2199	0.86954	0.0:0.0:1.0:0.0	.	555;634;636	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	S	636;636;634;555	ENSP00000268876:C636S;ENSP00000412840:C634S;ENSP00000367710:C555S	ENSP00000268876:C636S	C	+	2	0	UNC45B	30525444	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.946000	0.63576	2.606000	0.88127	0.591000	0.81541	TGC		0.572	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		C	33501331	G	C	33501331	3	2	180	1	0	0	0	0	1	0	0	0	16994	1319	46	4	1957	4	UNC45B	17	33501331	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	13894915	33501331	47693879	59	10516											
PRPSAP1	5635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74307778	74307778	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr17:74307778C>T	ENST00000446526.3	-	10	1448	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.V232M	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	306					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)	p.V306M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TTCGTCACCACCACCTAGTCA	0.438																																																1	Substitution - Missense(1)	kidney(1)											106	86	93					17																	74307778		2203	4300	6503	SO:0001583	missense	5635			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.1003G>A	17.37:g.74307778C>T	ENSP00000414624:p.Val335Met		B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886334	0.72410	.	.	ENSG00000161542	ENST00000446526;ENST00000324684	T;T	0.78364	-1.17;-1.17	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.95324	0.8423	10	0.87932	D	0	.	19.6224	0.95663	0.0:1.0:0.0:0.0	.	306;335	Q14558;Q14558-2	KPRA_HUMAN;.	M	335;232	ENSP00000414624:V335M;ENSP00000314973:V232M	ENSP00000314973:V232M	V	-	1	0	PRPSAP1	71819373	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	7.818000	0.86416	2.630000	0.89119	0.655000	0.94253	GTG		0.438	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		T	74307778	C	T	74307778	3	4	180	1	0	0	0	0	1	0	0	0	12586	507	18	2	158	2	PRPSAP1	17	74307778	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08	40806447	74307778	6887432	60	10517											
NDC80	10403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	2616501	2616501	+	Silent	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr18:2616501C>T	ENST00000261597.4	+	17	2039	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	619	Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.L619L(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAGAAGATCTCTCGGAAAATA	0.289																																																1	Substitution - coding silent(1)	kidney(1)											43	46	45					18																	2616501		2200	4282	6482	SO:0001819	synonymous_variant	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1857C>T	18.37:g.2616501C>T			Q6PJX2	Silent	SNP	ENST00000261597.4	37	CCDS11827.1																																																																																				0.289	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		T	2616501	C	T	2616501	2	4	180	1	0	0	0	0	0	0	0	1	10244	900	32	2		2	NDC80	18	2616501	Silent	SNP	C	TCGA-B0-5095-01A-01D-1421-08		2616501	75460747	61	10518											
TAF4B	6875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	23872291	23872291	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr18:23872291G>A	ENST00000269142.5	+	8	2670	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	TAF4B_ENST00000578121.1_Missense_Mutation_p.G563R|TAF4B_ENST00000400466.2_Missense_Mutation_p.G558R	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	558					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G558R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCAGAAATGTGGACAGAAGAC	0.438																																																1	Substitution - Missense(1)	kidney(1)											153	142	146					18																	23872291		1954	4144	6098	SO:0001583	missense	6875			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1672G>A	18.37:g.23872291G>A	ENSP00000269142:p.Gly558Arg		Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466547	0.43839	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T	0.25749	1.88;1.78	5.03	5.03	0.67393	.	0.516673	0.19495	N	0.112862	T	0.38134	0.1029	L	0.56769	1.78	0.37813	D	0.928129	D;P	0.63880	0.993;0.839	P;P	0.53450	0.726;0.448	T	0.21484	-1.0244	10	0.17369	T	0.5	-3.0586	16.928	0.86182	0.0:0.0:1.0:0.0	.	558;563	Q92750;A4PBF7	TAF4B_HUMAN;.	R	561;558;558	ENSP00000269142:G558R;ENSP00000383314:G558R	ENSP00000269142:G558R	G	+	1	0	TAF4B	22126289	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	4.303000	0.59098	2.313000	0.78055	0.655000	0.94253	GGA		0.438	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		A	23872291	G	A	23872291	3	1	180	1	0	0	0	0	1	0	0	0	15532	1349	47	2	1702	2	TAF4B	18	23872291	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	21255790	23872291	54204957	62	10519											
MOCOS	55034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33785102	33785102	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr18:33785102T>A	ENST00000261326.5	+	6	1102	c.1081T>A	c.(1081-1083)Tcc>Acc	p.S361T		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.S361T(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGTGGCCCTGTCCTCTCTCCA	0.478																																																1	Substitution - Missense(1)	kidney(1)											110	102	105					18																	33785102		2203	4300	6503	SO:0001583	missense	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1081T>A	18.37:g.33785102T>A	ENSP00000261326:p.Ser361Thr			Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	T	0.190	-1.054048	0.01965	.	.	ENSG00000075643	ENST00000261326	D	0.87334	-2.24	5.89	0.758	0.18432	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.448200	0.26038	N	0.026707	T	0.75280	0.3828	L	0.28458	0.855	0.19945	N	0.999942	B	0.06786	0.001	B	0.12837	0.008	T	0.56105	-0.8034	10	0.13470	T	0.59	-6.8435	8.8356	0.35111	0.1065:0.0:0.4477:0.4458	.	361	Q96EN8	MOCOS_HUMAN	T	361	ENSP00000261326:S361T	ENSP00000261326:S361T	S	+	1	0	MOCOS	32039100	1.000000	0.71417	0.050000	0.19076	0.073000	0.16967	1.322000	0.33689	0.113000	0.18004	-1.036000	0.02392	TCC		0.478	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			A	33785102	T	A	33785102	3	1	180	1	0	0	0	0	1	0	0	0	9691	1667	58	5	1103	5	MOCOS	18	33785102	Missense_Mutation	SNP	T	TCGA-B0-5095-01A-01D-1421-08	9912811	33785102	44292146	63	10520											
ATP8B1	5205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	55319399	55319399	+	Silent	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr18:55319399G>A	ENST00000283684.4	-	25	3266	c.3267C>T	c.(3265-3267)ggC>ggT	p.G1089G	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.G1089G			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1089					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G1089G(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AAGTATCCAAGCCAATCTGTT	0.358																																																1	Substitution - coding silent(1)	kidney(1)											48	46	47					18																	55319399		2202	4299	6501	SO:0001819	synonymous_variant	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3267C>T	18.37:g.55319399G>A			Q9BTP8	Silent	SNP	ENST00000283684.4	37	CCDS11965.1																																																																																				0.358	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		A	55319399	G	A	55319399	2	1	180	1	0	0	0	0	0	0	0	1	1194	958	34	2		2	ATP8B1	18	55319399	Silent	SNP	G	TCGA-B0-5095-01A-01D-1421-08	21534297	55319399	22757849	64	10521											
DUS3L	56931	broad.mit.edu	37	19	5785681	5785681	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:5785681C>A	ENST00000309061.7	-	11	1780	c.1684G>T	c.(1684-1686)Ggc>Tgc	p.G562C	CTB-54O9.9_ENST00000586012.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.G320C	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	562							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.G562C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GTGTCCGAGCCCCAGTGCTCC	0.682																																																1	Substitution - Missense(1)	kidney(1)											31	32	31					19																	5785681		2201	4295	6496	SO:0001583	missense	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1684G>T	19.37:g.5785681C>A	ENSP00000311977:p.Gly562Cys		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675050	0.88445	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.33438	1.41;1.41	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.69260	0.3091	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81682	-0.0822	10	0.87932	D	0	-32.3783	14.6137	0.68534	0.0:1.0:0.0:0.0	.	320;562	Q96G46-3;Q96G46	.;DUS3L_HUMAN	C	562;320	ENSP00000311977:G562C;ENSP00000315558:G320C	ENSP00000311977:G562C	G	-	1	0	DUS3L	5736681	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.411000	0.80078	2.052000	0.61016	0.555000	0.69702	GGC		0.682	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		A	5785681	C	A	5785681	3	1	180	1	0	0	0	0	1	0	0	0	4809	623	22	4	280	4	DUS3L	19	5785681	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08		5785681	53343302	65	10522											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9067149	9067149	+	Missense_Mutation	SNP	G	G	A	rs200769888		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:9067149G>A	ENST00000397910.4	-	3	20500	c.20297C>T	c.(20296-20298)tCg>tTg	p.S6766L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6768	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6766L(2)|p.S2399L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCGCCATCGAGTGTGTTCC	0.483																																																3	Substitution - Missense(3)	kidney(3)						G	LEU/SER	1,4401	2.1+/-5.4	0,1,2200	254	249	251		20297	-0.4	0	19		251	3,8589	3.0+/-9.4	0,3,4293	yes	missense	MUC16	NM_024690.2	145	0,4,6493	AA,AG,GG		0.0349,0.0227,0.0308	possibly-damaging	6766/14508	9067149	4,12990	2201	4296	6497	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20297C>T	19.37:g.9067149G>A	ENSP00000381008:p.Ser6766Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.684	0.310709	0.10733	2.27E-4	3.49E-4	ENSG00000181143	ENST00000397910	T	0.35605	1.3	2.06	-0.377	0.12501	.	.	.	.	.	T	0.20700	0.0498	N	0.24115	0.695	.	.	.	B	0.19200	0.034	B	0.06405	0.002	T	0.19289	-1.0310	8	0.87932	D	0	.	4.3025	0.10932	0.4186:0.0:0.5814:0.0	.	6766	B5ME49	.	L	6766	ENSP00000381008:S6766L	ENSP00000381008:S6766L	S	-	2	0	MUC16	8928149	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.621000	0.00878	-0.012000	0.14223	0.386000	0.25728	TCG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9067149	G	A	9067149	3	1	180	1	0	0	0	0	1	0	0	0	9975	1059	37	1	23554	1	MUC16	19	9067149	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	3281468	9067149	50061834	66	10523											
DNMT1	1786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10262203	10262203	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:10262203C>T	ENST00000340748.4	-	23	2323	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	DNMT1_ENST00000359526.4_Missense_Mutation_p.M712I|DNMT1_ENST00000540357.1_Missense_Mutation_p.M696I			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	696	Autoinhibitory linker.|Required for activity.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.M696I(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTGCCTCCTTCATGGCCATAT	0.473																																																1	Substitution - Missense(1)	kidney(1)											212	184	193					19																	10262203		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2088G>A	19.37:g.10262203C>T	ENSP00000345739:p.Met696Ile		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374507	0.42105	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.27720	2.05;1.65;1.65	5.48	4.43	0.53597	.	0.227351	0.44902	D	0.000415	T	0.11410	0.0278	N	0.02539	-0.55	0.34300	D	0.684299	B;B;B	0.13145	0.007;0.003;0.004	B;B;B	0.09377	0.004;0.004;0.002	T	0.18272	-1.0342	10	0.12766	T	0.61	.	9.9146	0.41425	0.0:0.8397:0.0:0.1603	.	696;712;696	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	I	712;696;696;564	ENSP00000352516:M712I;ENSP00000440457:M696I;ENSP00000345739:M696I	ENSP00000345739:M696I	M	-	3	0	DNMT1	10123203	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.377000	0.20552	1.277000	0.44412	0.655000	0.94253	ATG		0.473	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		T	10262203	C	T	10262203	3	4	180	1	0	0	0	0	1	0	0	0	4677	826	29	2	2834	2	DNMT1	19	10262203	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08	1195054	10262203	48866780	67	10524											
ZNF625	90589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12256409	12256409	+	Silent	SNP	C	C	T	rs188764180		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:12256409C>T	ENST00000355738.1	-	4	973	c.624G>A	c.(622-624)ccG>ccA	p.P208P	ZNF625_ENST00000439556.2_Silent_p.P274P|ZNF625_ENST00000542938.1_Silent_p.P208P|ZNF625_ENST00000455799.1_3'UTR|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P274P(1)|p.P208P(1)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TACATTCATACGGCTTCTCCC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		23031	0.0		0.001	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)											142	132	135					19																	12256409		2203	4300	6503	SO:0001819	synonymous_variant	90589			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"Zinc fingers, C2H2-type", "-"	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.624G>A	19.37:g.12256409C>T			A4FU45|I3L0E9	Silent	SNP	ENST00000355738.1	37																																																																																					0.428	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		T	12256409	C	T	12256409	2	4	180	1	0	0	0	0	0	0	0	1	18054	523	19	1		1	ZNF625	19	12256409	Silent	SNP	C	TCGA-B0-5095-01A-01D-1421-08	1994206	12256409	46872574	68	10525											
CCDC105	126402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15132495	15132495	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:15132495A>G	ENST00000292574.3	+	5	1191	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	370						extracellular vesicular exosome (GO:0070062)		p.E370G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TATAACCAAGAGTTGTACACC	0.572																																																1	Substitution - Missense(1)	kidney(1)											85	83	84					19																	15132495		2203	4300	6503	SO:0001583	missense	126402			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1109A>G	19.37:g.15132495A>G	ENSP00000292574:p.Glu370Gly		Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	A	9.712	1.157254	0.21454	.	.	ENSG00000160994	ENST00000292574	T	0.02737	4.18	3.67	3.67	0.42095	.	0.306262	0.24666	N	0.036588	T	0.10380	0.0254	M	0.65975	2.015	0.09310	N	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.09552	-1.0669	10	0.28530	T	0.3	-31.9719	8.697	0.34303	1.0:0.0:0.0:0.0	.	370	Q8IYK2	CC105_HUMAN	G	370	ENSP00000292574:E370G	ENSP00000292574:E370G	E	+	2	0	CCDC105	14993495	1.000000	0.71417	0.362000	0.25862	0.059000	0.15707	3.771000	0.55318	1.559000	0.49555	0.449000	0.29647	GAG		0.572	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		G	15132495	A	G	15132495	3	3	180	1	0	0	0	0	1	0	0	0	2742	304	11	3	1127	3	CCDC105	19	15132495	Missense_Mutation	SNP	A	TCGA-B0-5095-01A-01D-1421-08	2876086	15132495	43996488	69	10526											
C19orf47	126526	broad.mit.edu;hgsc.bcm.edu	37	19	40827909	40827909	+	Silent	SNP	G	G	T			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:40827909G>T	ENST00000582783.1	-	9	1161	c.1149C>A	c.(1147-1149)gtC>gtA	p.V383V	C19orf47_ENST00000392035.2_Silent_p.V316V|C19orf47_ENST00000584868.1_Intron	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	383						nucleus (GO:0005634)		p.V383V(1)|p.V316V(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCTTAATGGTGACCTTGACCT	0.627																																																2	Substitution - coding silent(2)	kidney(2)											46	41	43					19																	40827909		2203	4300	6503	SO:0001819	synonymous_variant	126526			AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.1149C>A	19.37:g.40827909G>T			Q8IZ33|Q8N0V9	Silent	SNP	ENST00000582783.1	37	CCDS58662.1																																																																																				0.627	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		T	40827909	G	T	40827909	2	4	180	1	0	0	0	0	0	0	0	1	1932	1277	45	4		4	C19orf47	19	40827909	Silent	SNP	G	TCGA-B0-5095-01A-01D-1421-08	25695414	40827909	18301074	70	10527											
PLD3	23646	hgsc.bcm.edu;ucsc.edu	37	19	40876075	40876075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:40876075delG	ENST00000409587.1	+	8	1006	c.609delG	c.(607-609)aagfs	p.K203fs	PLD3_ENST00000356508.5_Frame_Shift_Del_p.K203fs|PLD3_ENST00000409281.1_Frame_Shift_Del_p.K203fs|PLD3_ENST00000409419.1_Frame_Shift_Del_p.K203fs|PLD3_ENST00000409735.4_Frame_Shift_Del_p.K203fs			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	203	PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TGCATACCAAGTTCTGGGTGG	0.607																																																0													105	82	90					19																	40876075		2203	4300	6503	SO:0001589	frameshift_variant	23646			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"phospholipase D3"			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.609delG	19.37:g.40876075delG	ENSP00000387050:p.Lys203fs		Q92853|Q9BW87	Frame_Shift_Del	DEL	ENST00000409587.1	37	CCDS33027.1																																																																																				0.607	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		-	40876075	G	-	40876075	7	5	180	1	0	1	0	1	0	0	0	0	12049	1020	36	0	631	0	PLD3	19	40876075	Frame_Shift_Del	DEL	G	TCGA-B0-5095-01A-01D-1421-08	48166	40876075	18252908	71	10528											
ZNF530	348327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58118103	58118103	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr19:58118103G>C	ENST00000332854.6	+	3	1430	c.1210G>C	c.(1210-1212)Gaa>Caa	p.E404Q	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E404Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACACTGGAGAAAGACCTTA	0.423																																																1	Substitution - Missense(1)	kidney(1)											98	94	96					19																	58118103		2203	4300	6503	SO:0001583	missense	348327			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1210G>C	19.37:g.58118103G>C	ENSP00000332861:p.Glu404Gln		O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303477	0.40795	.	.	ENSG00000183647	ENST00000332854	T	0.25912	1.77	2.39	2.39	0.29439	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37652	0.1011	L	0.37466	1.105	0.22591	N	0.99896	D	0.67145	0.996	D	0.67548	0.952	T	0.13469	-1.0508	9	0.62326	D	0.03	.	11.8426	0.52364	0.0:0.0:1.0:0.0	.	404	Q6P9A1	ZN530_HUMAN	Q	404	ENSP00000332861:E404Q	ENSP00000332861:E404Q	E	+	1	0	ZNF530	62809915	0.266000	0.24112	0.672000	0.29872	0.932000	0.56968	2.414000	0.44627	1.341000	0.45600	0.609000	0.83330	GAA		0.423	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		C	58118103	G	C	58118103	3	2	180	1	0	0	0	0	1	0	0	0	17976	943	33	4	1220	4	ZNF530	19	58118103	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	17242028	58118103	1010880	72	10529											
NCOA3	8202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	46277767	46277767	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr20:46277767C>G	ENST00000371998.3	+	19	3756	c.3565C>G	c.(3565-3567)Cag>Gag	p.Q1189E	NCOA3_ENST00000341724.6_Missense_Mutation_p.Q1119E|NCOA3_ENST00000371997.3_Missense_Mutation_p.Q1184E|NCOA3_ENST00000372004.3_Missense_Mutation_p.Q1189E			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1189	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1189E(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCAGAGCCGACAGGCACTTGA	0.517																																																1	Substitution - Missense(1)	kidney(1)											79	72	75					20																	46277767		2203	4300	6503	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3565C>G	20.37:g.46277767C>G	ENSP00000361066:p.Gln1189Glu		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481647	0.84747	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.65091	0.2658	M	0.69185	2.1	0.80722	D	1	P;D;B;B;B;P	0.57571	0.71;0.98;0.365;0.365;0.317;0.947	B;P;B;B;B;P	0.52881	0.257;0.712;0.08;0.08;0.126;0.519	T	0.68349	-0.5432	10	0.87932	D	0	-10.9264	17.7164	0.88338	0.0:1.0:0.0:0.0	.	1189;1184;1193;1189;1189;1189	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	E	1189;1119;1189;1189;1184	ENSP00000342123:Q1119E;ENSP00000361073:Q1189E;ENSP00000361066:Q1189E;ENSP00000361065:Q1184E	ENSP00000345671:Q1189E	Q	+	1	0	NCOA3	45711174	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	6.032000	0.70918	2.716000	0.92895	0.655000	0.94253	CAG		0.517	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		G	46277767	C	G	46277767	3	3	180	1	0	0	0	0	1	0	0	0	10232	479	17	4	3661	4	NCOA3	20	46277767	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08		46277767	16747753	73	10530											
C20orf43	51507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	55049773	55049773	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr20:55049773C>A	ENST00000023939.4	+	3	311	c.204C>A	c.(202-204)gaC>gaA	p.D68E	RTFDC1_ENST00000357348.5_Missense_Mutation_p.D98E|RTFDC1_ENST00000395881.3_Missense_Mutation_p.D68E|snoU13_ENST00000459416.1_RNA	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	68								p.D68E(1)									TTCTCTTGGACAAATCTGCAG	0.388																																																1	Substitution - Missense(1)	kidney(1)											141	145	144					20																	55049773		2203	4300	6503	SO:0001583	missense	0			AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 43"	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.204C>A	20.37:g.55049773C>A	ENSP00000023939:p.Asp68Glu		E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Missense_Mutation	SNP	ENST00000023939.4	37	CCDS13453.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793902	0.70452	.	.	ENSG00000022277	ENST00000023939;ENST00000395881;ENST00000357348;ENST00000449062	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	6.07	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	L	0.41961	1.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;0.979;1.0;0.99	T	0.22034	-1.0228	10	0.14656	T	0.56	-40.8572	11.9822	0.53125	0.0:0.8597:0.0:0.1403	.	98;68;68;68	A8MSH5;A2A2L6;B2RB99;Q9BY42	.;.;.;CT043_HUMAN	E	68;68;98;98	ENSP00000023939:D68E;ENSP00000379220:D68E;ENSP00000349906:D98E;ENSP00000400322:D98E	ENSP00000023939:D68E	D	+	3	2	C20orf43	54483180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.536000	0.36072	1.567000	0.49668	0.655000	0.94253	GAC		0.388	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2	NM_016407		A	55049773	C	A	55049773	3	1	180	1	0	0	0	0	1	0	0	0	2114	477	17	4	214	4	C20orf43	20	55049773	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08	8772006	55049773	7975747	74	10531											
ZGPAT	84619	broad.mit.edu;ucsc.edu	37	20	62366756	62366756	+	Missense_Mutation	SNP	G	G	C	rs17855481		TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr20:62366756G>C	ENST00000328969.5	+	6	1424	c.1297G>C	c.(1297-1299)Ggg>Cgg	p.G433R	ZGPAT_ENST00000355969.6_Missense_Mutation_p.G413R|LIME1_ENST00000309546.3_5'Flank|RP4-583P15.14_ENST00000467211.1_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.G413R|ZGPAT_ENST00000448100.2_Missense_Mutation_p.G413R|RP4-583P15.15_ENST00000490623.2_Silent_p.P318P|ZGPAT_ENST00000357119.4_Missense_Mutation_p.G404R	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	433				G -> R (in Ref. 6; AAH19338). {ECO:0000305}.	negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G433R(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTAGAAGCCGGGGCGGCCCC	0.642																																																1	Substitution - Missense(1)	kidney(1)											18	22	20					20																	62366756		2188	4291	6479	SO:0001583	missense	84619			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1297G>C	20.37:g.62366756G>C	ENSP00000332013:p.Gly433Arg		E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	G	5.700	0.313715	0.10789	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.23147	1.93;1.93;1.92;1.93;1.92	5.37	2.22	0.28083	.	0.562537	0.18925	N	0.127368	T	0.16599	0.0399	L	0.38531	1.155	0.26378	N	0.976771	B;B;B	0.27140	0.08;0.169;0.08	B;B;B	0.25291	0.059;0.054;0.059	T	0.22836	-1.0205	10	0.15952	T	0.53	-10.9445	8.2251	0.31564	0.145:0.1291:0.7258:0.0	.	404;433;413	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	R	413;413;404;413;433	ENSP00000391176:G413R;ENSP00000348242:G413R;ENSP00000349634:G404R;ENSP00000358984:G413R;ENSP00000332013:G433R	ENSP00000332013:G433R	G	+	1	0	ZGPAT	61837200	0.667000	0.27484	0.002000	0.10522	0.001000	0.01503	1.293000	0.33353	0.661000	0.30985	-0.986000	0.02555	GGG		0.642	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		C	62366756	G	C	62366756	3	2	180	1	0	0	0	0	1	0	0	0	17679	1116	39	4	1315	4	ZGPAT	20	62366756	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	7316983	62366756	658764	75	10532											
USP25	29761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	17197352	17197352	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr21:17197352C>G	ENST00000285679.6	+	12	1645	c.1276C>G	c.(1276-1278)Ctc>Gtc	p.L426V	USP25_ENST00000285681.2_Missense_Mutation_p.L426V|USP25_ENST00000400183.2_Missense_Mutation_p.L426V|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	426	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.L426V(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAAGATTACCTCACGGTATT	0.313																																																1	Substitution - Missense(1)	kidney(1)											111	109	110					21																	17197352		2203	4300	6503	SO:0001583	missense	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1276C>G	21.37:g.17197352C>G	ENSP00000285679:p.Leu426Val		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230795	0.58777	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.74421	-0.84;-0.84;-0.84	5.74	4.86	0.63082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	L	0.61387	1.9	0.58432	D	0.999995	P;P;P	0.42078	0.712;0.712;0.77	B;B;B	0.42692	0.395;0.279;0.187	T	0.70887	-0.4750	10	0.24483	T	0.36	.	14.024	0.64575	0.0:0.9261:0.0:0.0739	.	426;426;426	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	V	426	ENSP00000285681:L426V;ENSP00000285679:L426V;ENSP00000383044:L426V	ENSP00000285679:L426V	L	+	1	0	USP25	16119223	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.455000	0.52993	1.588000	0.49971	0.650000	0.86243	CTC		0.313	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			G	17197352	C	G	17197352	3	3	180	1	0	0	0	0	1	0	0	0	17061	681	24	4	1322	4	USP25	21	17197352	Missense_Mutation	SNP	C	TCGA-B0-5095-01A-01D-1421-08		17197352	30932543	76	10533											
DDTL	100037417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24313566	24313566	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr22:24313566G>A	ENST00000215770.5	+	3	390	c.376G>A	c.(376-378)Gag>Aag	p.E126K	DDT_ENST00000350608.3_3'UTR|KB-226F1.2_ENST00000609736.1_lincRNA|DDT_ENST00000404092.1_Intron|DDT_ENST00000398344.4_3'UTR	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	126						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lyase activity (GO:0016829)	p.E126K(1)		kidney(1)|urinary_tract(1)	2						ATGTTTGAATGAGGAAGCTCT	0.478																																																1	Substitution - Missense(1)	kidney(1)											90	93	92					22																	24313566		2202	4299	6501	SO:0001583	missense	100037417			CR606018	CCDS42988.1	22q11.23	2008-06-10			ENSG00000099974	ENSG00000099974			33446	protein-coding gene	gene with protein product	"D-dopachrome decarboxylase-like protein"					9729470, 10591208	Standard	NM_001084393		Approved		uc002zyy.4	A6NHG4	OTTHUMG00000150800	ENST00000215770.5:c.376G>A	22.37:g.24313566G>A	ENSP00000215770:p.Glu126Lys		B4DJJ7	Missense_Mutation	SNP	ENST00000215770.5	37	CCDS42988.1	.	.	.	.	.	.	.	.	.	.	.	8.544	0.873975	0.17395	.	.	ENSG00000099974	ENST00000215770	.	.	.	3.96	-7.49	0.01355	.	.	.	.	.	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.24440	-1.0160	8	0.87932	D	0	.	1.5234	0.02520	0.3917:0.2345:0.2554:0.1184	.	126	A6NHG4	DDTL_HUMAN	K	126	.	ENSP00000215770:E126K	E	+	1	0	DDTL	22643566	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.425000	0.07017	-1.491000	0.01840	-2.592000	0.00164	GAG		0.478	DDTL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320142.1	NM_001084393		A	24313566	G	A	24313566	3	1	180	1	0	0	0	0	1	0	0	0	4342	1291	45	2	386	2	DDTL	22	24313566	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08		24313566	26991000	77	10534											
PKDREJ	10343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	46655753	46655753	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr22:46655753G>A	ENST00000253255.5	-	1	3466	c.3467C>T	c.(3466-3468)aCc>aTc	p.T1156I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1156					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.T1156I(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CACATAGTGGGTATGCAGGTG	0.517																																																1	Substitution - Missense(1)	kidney(1)											176	158	164					22																	46655753		2203	4300	6503	SO:0001583	missense	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3467C>T	22.37:g.46655753G>A	ENSP00000253255:p.Thr1156Ile		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473495	0.26423	.	.	ENSG00000130943	ENST00000253255	T	0.34859	1.34	5.23	-2.17	0.07059	GPS domain (1);	0.317451	0.22619	N	0.057722	T	0.23766	0.0575	L	0.54323	1.7	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.29427	-1.0012	10	0.12430	T	0.62	-6.5887	6.5449	0.22400	0.5191:0.0:0.3592:0.1217	.	1156	Q9NTG1	PKDRE_HUMAN	I	1156	ENSP00000253255:T1156I	ENSP00000253255:T1156I	T	-	2	0	PKDREJ	45034417	0.000000	0.05858	0.001000	0.08648	0.729000	0.41735	0.514000	0.22786	-0.171000	0.10797	0.561000	0.74099	ACC		0.517	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		A	46655753	G	A	46655753	3	1	180	1	0	0	0	0	1	0	0	0	11972	1261	44	2	3298	2	PKDREJ	22	46655753	Missense_Mutation	SNP	G	TCGA-B0-5095-01A-01D-1421-08	22342187	46655753	4648813	78	10535											
MOV10L1	54456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50555733	50555733	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chr22:50555733A>C	ENST00000262794.5	+	9	1490	c.1407A>C	c.(1405-1407)caA>caC	p.Q469H	MOV10L1_ENST00000395858.3_Missense_Mutation_p.Q469H|MOV10L1_ENST00000540615.1_Missense_Mutation_p.Q449H|MOV10L1_ENST00000545383.1_Missense_Mutation_p.Q469H|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	469					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.Q469H(1)|p.Q449H(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AAAGTTCACAAGCGTTAACAT	0.428																																																2	Substitution - Missense(2)	kidney(2)											65	62	63					22																	50555733		2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1407A>C	22.37:g.50555733A>C	ENSP00000262794:p.Gln469His		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.322742	0.60634	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85955	-1.86;-1.86;-1.45;-2.05	5.76	-6.51	0.01878	.	0.758668	0.13132	N	0.411384	D	0.84942	0.5584	L	0.51422	1.61	0.20307	N	0.999919	D;D;D;D	0.61080	0.989;0.979;0.964;0.964	P;P;B;B	0.58820	0.846;0.632;0.428;0.428	T	0.80826	-0.1209	10	0.46703	T	0.11	-8.1783	11.8078	0.52165	0.3577:0.1069:0.5354:0.0	.	230;449;469;469	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	H	469;469;469;449	ENSP00000438978:Q469H;ENSP00000262794:Q469H;ENSP00000379199:Q469H;ENSP00000438542:Q449H	ENSP00000262794:Q469H	Q	+	3	2	MOV10L1	48897860	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.980000	0.03770	-1.581000	0.01642	-0.256000	0.11100	CAA		0.428	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		C	50555733	A	C	50555733	3	2	180	1	0	0	0	0	1	0	0	0	9721	69	3	5	1482	5	MOV10L1	22	50555733	Missense_Mutation	SNP	A	TCGA-B0-5095-01A-01D-1421-08	3899980	50555733	748833	79	10536											
SFRS17A	8227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1713017	1713017	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chrX:1713017A>G	ENST00000313871.3	+	2	858	c.662A>G	c.(661-663)tAc>tGc	p.Y221C	AKAP17A_ENST00000381261.3_Missense_Mutation_p.Y221C	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	221	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.Y221C(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TATGTGCAGTACCGCGAGTAC	0.607																																																1	Substitution - Missense(1)	kidney(1)											116	107	110					X																	1713017		2203	4296	6499	SO:0001583	missense	8227			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.662A>G	X.37:g.1713017A>G	ENSP00000324827:p.Tyr221Cys		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	a	7.252	0.603391	0.14002	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.53640	0.61;0.61	1.86	0.532	0.17114	Nucleotide-binding, alpha-beta plait (1);	0.085876	0.49305	U	0.000159	T	0.58495	0.2126	.	.	.	0.21527	N	0.999652	D;B	0.71674	0.998;0.399	D;B	0.64776	0.929;0.32	T	0.51466	-0.8702	9	0.87932	D	0	.	6.5709	0.22539	0.8659:0.0:0.1341:0.0	.	221;221	Q02040-3;Q02040	.;AK17A_HUMAN	C	221	ENSP00000324827:Y221C;ENSP00000370660:Y221C	ENSP00000324827:Y221C	Y	+	2	0	AKAP17A	1673017	1.000000	0.71417	0.006000	0.13384	0.190000	0.23558	4.914000	0.63348	-0.222000	0.09958	0.084000	0.15446	TAC		0.607	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		G	1713017	A	G	1713017	3	3	180	1	0	0	0	0	1	0	0	0	14179	391	14	3	664	3	SFRS17A	23	1713017	Missense_Mutation	SNP	A	TCGA-B0-5095-01A-01D-1421-08		1713017	153557543	80	10537											
KIF4A	24137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	69622533	69622533	+	Silent	SNP	T	T	C			TCGA-B0-5095-01A-01D-1421-08	TCGA-B0-5095-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93c714f8-acea-4550-92fe-aad4aad65ac9	fe1f491c-9dd3-4d5b-9c51-3e3554674e99	g.chrX:69622533T>C	ENST00000374403.3	+	23	2689	c.2607T>C	c.(2605-2607)taT>taC	p.Y869Y	KIF4A_ENST00000374388.3_Silent_p.Y869Y	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	869	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.Y869Y(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCCTGAAATATTTGATTGGAG	0.443																																																1	Substitution - coding silent(1)	kidney(1)											72	57	62					X																	69622533		2203	4300	6503	SO:0001819	synonymous_variant	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2607T>C	X.37:g.69622533T>C			B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	CCDS14401.1																																																																																				0.443	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		C	69622533	T	C	69622533	2	2	180	1	0	0	0	0	0	0	0	1	8305	1500	52	3		3	KIF4A	23	69622533	Silent	SNP	T	TCGA-B0-5095-01A-01D-1421-08	67909516	69622533	85648027	81	10538											
VPS13D	55187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12423192	12423192	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:12423192C>G	ENST00000358136.3	+	52	10467	c.10337C>G	c.(10336-10338)cCt>cGt	p.P3446R	VPS13D_ENST00000356315.4_Missense_Mutation_p.P3421R	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.P3446R(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCCACTGGCCTCGGAATGAC	0.453																																																1	Substitution - Missense(1)	kidney(1)											265	229	241					1																	12423192		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10337C>G	1.37:g.12423192C>G	ENSP00000350854:p.Pro3446Arg			Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.923209|4.923209	0.92319|0.92319	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.30981	.|1.51;1.51	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Vacuolar protein sorting-associated protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61286|0.61286	0.2335|0.2335	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	T|T	0.57717|0.57717	-0.7763|-0.7763	5|10	.|0.44086	.|T	.|0.13	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3421;3445	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	V|R	2268|3421;3446	.|ENSP00000348666:P3421R;ENSP00000350854:P3446R	.|ENSP00000348666:P3421R	L|P	+|+	1|2	0|0	VPS13D|VPS13D	12345779|12345779	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.914000|0.914000	0.54420|0.54420	7.456000|7.456000	0.80751|0.80751	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		G	12423192	C	G	12423192	3	3	181	1	0	0	0	0	1	0	0	0	17197	681	24	4	10539	4	VPS13D	1	12423192	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08		12423192	236827429	1	10539											
NFYC	4802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	41218906	41218906	+	Silent	SNP	T	T	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:41218906T>G	ENST00000308733.5	+	4	381	c.375T>G	c.(373-375)ccT>ccG	p.P125P	NFYC_ENST00000372652.1_Silent_p.P125P|NFYC_ENST00000447388.3_Silent_p.P125P|NFYC_ENST00000456393.2_Silent_p.P125P|NFYC_ENST00000425457.2_Silent_p.P125P|NFYC_ENST00000427410.2_Silent_p.P87P|NFYC_ENST00000372651.1_Silent_p.P125P|MIR30E_ENST00000362104.1_RNA|NFYC_ENST00000440226.3_Silent_p.P125P|NFYC_ENST00000372653.1_Silent_p.P125P|NFYC_ENST00000372654.1_Silent_p.P125P			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	125					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.P125P(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			AACTGAAACCTCCAAAGCGTC	0.428																																																1	Substitution - coding silent(1)	kidney(1)											88	79	82					1																	41218906		2203	4300	6503	SO:0001819	synonymous_variant	4802			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.375T>G	1.37:g.41218906T>G			B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Silent	SNP	ENST00000308733.5	37		.	.	.	.	.	.	.	.	.	.	T	8.059	0.767725	0.15983	.	.	ENSG00000066136	ENST00000414185	.	.	.	6.17	2.55	0.30701	.	.	.	.	.	T	0.53690	0.1812	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44081	-0.9351	4	.	.	.	.	5.5429	0.17047	0.2845:0.0734:0.0:0.6421	.	.	.	.	A	8	.	.	S	+	1	0	NFYC	40991493	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.693000	0.25497	0.508000	0.28173	-0.336000	0.08194	TCC		0.428	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		G	41218906	T	G	41218906	2	3	181	1	0	0	0	0	0	0	0	1	10393	1538	54	5		5	NFYC	1	41218906	Silent	SNP	T	TCGA-B0-5096-01A-01D-1421-08	28795714	41218906	208031715	2	10540											
FNBP1L	54874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	93987691	93987691	+	Splice_Site	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:93987691C>T	ENST00000271234.7	+	3	344	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	FNBP1L_ENST00000260506.8_Splice_Site_p.R65W|FNBP1L_ENST00000370256.4_Splice_Site_p.R65W|FNBP1L_ENST00000370253.2_Splice_Site_p.R65W|FNBP1L_ENST00000604705.1_Splice_Site_p.R65W	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	65	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R65W(4)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGAAGAGCCACGGTAAATTAC	0.239																																																4	Substitution - Missense(4)	kidney(4)											18	16	17					1																	93987691		1777	4039	5816	SO:0001630	splice_region_variant	54874				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"chromosome 1 open reading frame 39"	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.194+1C>T	1.37:g.93987691C>T			J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.535899	0.64972	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.47	4.35	0.52113	.	0.184649	0.51477	D	0.000093	T	0.42404	0.1201	M	0.65975	2.015	0.80722	D	1	D;D	0.58970	0.978;0.984	P;P	0.54100	0.618;0.742	T	0.47761	-0.9092	10	0.72032	D	0.01	-29.649	12.5175	0.56040	0.854:0.146:0.0:0.0	.	65;65	Q5T0N5-4;Q5T0N5-3	.;.	W	65	ENSP00000359278:R65W;ENSP00000271234:R65W;ENSP00000260506:R65W;ENSP00000359275:R65W	ENSP00000260506:R65W	R	+	1	2	FNBP1L	93760279	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.386000	0.44380	0.921000	0.36994	-0.457000	0.05445	CGG		0.239	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737	Missense_Mutation	T	93987691	C	T	93987691	5	4	181	1	0	0	0	0	0	0	1	0	5968	550	19	1	203	1	FNBP1L	1	93987691	Splice_Site	SNP	C	TCGA-B0-5096-01A-01D-1421-08	52768785	93987691	155262930	3	10541											
GNAI3	2773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110129422	110129422	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:110129422C>T	ENST00000369851.4	+	7	902	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	264					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.I264I(1)		NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AAACTTCAATCATTCTCTTCC	0.338																																																1	Substitution - coding silent(1)	kidney(1)											54	57	56					1																	110129422		2203	4296	6499	SO:0001819	synonymous_variant	2773			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.792C>T	1.37:g.110129422C>T			P17539|Q5TZX1	Silent	SNP	ENST00000369851.4	37	CCDS802.1																																																																																				0.338	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		T	110129422	C	T	110129422	2	4	181	1	0	0	0	0	0	0	0	1	6508	816	29	2		2	GNAI3	1	110129422	Silent	SNP	C	TCGA-B0-5096-01A-01D-1421-08	16141731	110129422	139121199	4	10542											
RBM15	64783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110883213	110883213	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:110883213C>T	ENST00000369784.3	+	1	2086	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.R396C|RBM15_ENST00000487146.2_Missense_Mutation_p.R396C	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	396	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R396C(2)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGTTTGATCGCTTTGGAGT	0.473			T	MKL1	acute megakaryocytic leukemia																																		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	2	Substitution - Missense(2)	kidney(1)|endometrium(1)											57	58	58					1																	110883213		2203	4300	6503	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1186C>T	1.37:g.110883213C>T	ENSP00000358799:p.Arg396Cys		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209728	0.58343	.	.	ENSG00000162775	ENST00000369784	T	0.16457	2.34	4.69	4.69	0.59074	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.44483	D	0.000450	T	0.37376	0.1001	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.987;0.998	T	0.34551	-0.9824	10	0.87932	D	0	-6.4088	17.7957	0.88570	0.0:1.0:0.0:0.0	.	396;396	Q96T37-3;Q96T37	.;RBM15_HUMAN	C	396	ENSP00000358799:R396C	ENSP00000358799:R396C	R	+	1	0	RBM15	110684736	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	2.159000	0.42339	2.446000	0.82766	0.655000	0.94253	CGC		0.473	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		T	110883213	C	T	110883213	3	4	181	1	0	0	0	0	1	0	0	0	13122	884	31	1	1188	1	RBM15	1	110883213	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	753791	110883213	138367408	5	10543											
DUSP27	92235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	167095901	167095901	+	Silent	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:167095901A>C	ENST00000361200.2	+	6	1699	c.1533A>C	c.(1531-1533)gcA>gcC	p.A511A	DUSP27_ENST00000271385.5_Silent_p.A511A|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.A511A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	511					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A511A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCTCAGAAGCAGGGAGCAGGG	0.597																																																1	Substitution - coding silent(1)	kidney(1)											62	58	59					1																	167095901		2203	4300	6503	SO:0001819	synonymous_variant	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1533A>C	1.37:g.167095901A>C			A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																				0.597	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		C	167095901	A	C	167095901	2	2	181	1	0	0	0	0	0	0	0	1	4826	175	7	5		5	DUSP27	1	167095901	Silent	SNP	A	TCGA-B0-5096-01A-01D-1421-08	56212688	167095901	82154720	6	10544											
CACNA1E	777	hgsc.bcm.edu	37	1	181706671	181706672	+	Frame_Shift_Ins	INS	-	-	C	rs76614214		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:181706671_181706672insC	ENST00000367573.2	+	23	3433_3434	c.3433_3434insC	c.(3433-3435)gccfs	p.A1145fs	CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A1145fs|CACNA1E_ENST00000367567.4_Frame_Shift_Ins_p.A752fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A1096fs|CACNA1E_ENST00000526775.1_Frame_Shift_Ins_p.A1126fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A1126fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A1077fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1145					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATCCGGAGGGCCTGCCACTAC	0.629																																																0																																										SO:0001589	frameshift_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3435dupC	1.37:g.181706673_181706673dupC	ENSP00000356545:p.Ala1145fs		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Ins	INS	ENST00000367573.2	37	CCDS55664.1																																																																																				0.629	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		C	181706672	-	C	181706671	7	5	181	1	0	1	1	0	0	0	0	0	2544	1203	42	0	3523	0	CACNA1E	1	181706671	Frame_Shift_Ins	INS	-	TCGA-B0-5096-01A-01D-1421-08	14610770	181706671	67543950	7	10545											
LAMB3	3914	hgsc.bcm.edu	37	1	209799286	209799286	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:209799286C>T	ENST00000356082.4	-	14	1817	c.1683G>A	c.(1681-1683)ggG>ggA	p.G561G	MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000391911.1_Silent_p.G561G|LAMB3_ENST00000367030.3_Silent_p.G561G	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	561	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CACAGCGGGGCCCGGTCAAGC	0.652																																																0													24	27	26					1																	209799286		2203	4298	6501	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1683G>A	1.37:g.209799286C>T			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	CCDS1487.1																																																																																				0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		T	209799286	C	T	209799286	2	4	181	1	0	0	0	0	0	0	0	1	8614	726	26	2		2	LAMB3	1	209799286	Silent	SNP	C	TCGA-B0-5096-01A-01D-1421-08	28092615	209799286	39451335	8	10546											
ZNF124	7678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247322364	247322364	+	Silent	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr1:247322364G>A	ENST00000543802.2	-	3	251	c.162C>T	c.(160-162)aaC>aaT	p.N54N	ZNF124_ENST00000340684.6_Silent_p.N54N|ZNF124_ENST00000472531.1_Silent_p.N54N|ZNF124_ENST00000491356.1_Silent_p.N54N|ZNF124_ENST00000491848.1_5'UTR			Q15973	ZN124_HUMAN	zinc finger protein 124	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N54N(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CTTCCCCTTTGTTTCCTAAAA	0.368																																																1	Substitution - coding silent(1)	kidney(1)											66	67	67					1																	247322364		2202	4299	6501	SO:0001819	synonymous_variant	7678			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"Zinc fingers, C2H2-type", "-"	12907	protein-coding gene	gene with protein product		194631	"zinc finger protein 124 (HZF-16)"			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.162C>T	1.37:g.247322364G>A			B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Silent	SNP	ENST00000543802.2	37																																																																																					0.368	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		A	247322364	G	A	247322364	2	1	181	1	0	0	0	0	0	0	0	1	17725	1368	48	2		2	ZNF124	1	247322364	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08	37523078	247322364	1928257	9	10547											
OTX1	5013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63282664	63282664	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:63282664G>C	ENST00000282549.2	+	5	554	c.278G>C	c.(277-279)tGc>tCc	p.C93S	OTX1_ENST00000366671.3_Missense_Mutation_p.C93S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	93					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.C93Y(1)|p.C93S(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CGCGCCAAATGCCGCCAGCAG	0.657																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											20	24	23					2																	63282664		2202	4300	6502	SO:0001583	missense	5013				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.278G>C	2.37:g.63282664G>C	ENSP00000282549:p.Cys93Ser		A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	g	13.59	2.282987	0.40394	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.95821	-3.82;-3.82	3.64	2.76	0.32466	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.058969	0.64402	D	0.000001	D	0.91081	0.7193	N	0.02708	-0.52	0.51482	D	0.999928	P	0.36577	0.558	P	0.50270	0.636	D	0.90248	0.4291	10	0.54805	T	0.06	.	11.6771	0.51436	0.0:0.0:0.8206:0.1794	.	93	P32242	OTX1_HUMAN	S	93	ENSP00000355631:C93S;ENSP00000282549:C93S	ENSP00000282549:C93S	C	+	2	0	OTX1	63136168	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.651000	0.83577	0.884000	0.36064	-0.216000	0.12614	TGC		0.657	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			C	63282664	G	C	63282664	3	2	181	1	0	0	0	0	1	0	0	0	11322	1319	46	4	288	4	OTX1	2	63282664	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08		63282664	179916709	10	10548											
C2orf89	129293	broad.mit.edu;ucsc.edu	37	2	85097390	85097390	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:85097390C>T	ENST00000409520.2	-	2	670	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	TRABD2A_ENST00000335459.5_Missense_Mutation_p.E210K|TRABD2A_ENST00000409133.1_Missense_Mutation_p.E210K	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	210					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.E210K(2)									CACTGCTCTTCCACCTTTTCC	0.488																																																2	Substitution - Missense(2)	kidney(2)											168	173	171					2																	85097390		2009	4175	6184	SO:0001583	missense	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.628G>A	2.37:g.85097390C>T	ENSP00000387075:p.Glu210Lys		B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.137645	0.77775	.	.	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.48522	2.96;0.81;0.81	3.14	3.14	0.36123	.	0.000000	0.64402	D	0.000003	T	0.63757	0.2538	.	.	.	0.49483	D	0.999799	D;D;D	0.71674	0.997;0.998;0.965	D;D;P	0.79108	0.992;0.935;0.777	T	0.64411	-0.6414	9	0.40728	T	0.16	.	11.7361	0.51765	0.0:1.0:0.0:0.0	.	210;210;210	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	K	210	ENSP00000335004:E210K;ENSP00000387075:E210K;ENSP00000387183:E210K	ENSP00000335004:E210K	E	-	1	0	C2orf89	84950901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.028000	0.70889	1.599000	0.50093	0.462000	0.41574	GAA		0.488	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		T	85097390	C	T	85097390	3	4	181	1	0	0	0	0	1	0	0	0	2205	864	30	2	762	2	C2orf89	2	85097390	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	21814726	85097390	158101983	11	10549											
GCC2	9648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109100728	109100728	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:109100728A>G	ENST00000309863.6	+	13	4288	c.3574A>G	c.(3574-3576)Att>Gtt	p.I1192V		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1192					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.I1192V(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGAAATAAAAATTCAAAAACA	0.259																																																1	Substitution - Missense(1)	kidney(1)											36	38	37					2																	109100728		2197	4293	6490	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3574A>G	2.37:g.109100728A>G	ENSP00000307939:p.Ile1192Val		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.492786	0.64074	.	.	ENSG00000135968	ENST00000309863	T	0.31510	1.49	5.82	4.66	0.58398	.	0.187156	0.46442	D	0.000283	T	0.44244	0.1284	M	0.69823	2.125	0.37147	D	0.901976	D	0.54207	0.965	P	0.52343	0.696	T	0.51044	-0.8755	10	0.33141	T	0.24	.	13.2822	0.60222	0.8678:0.1322:0.0:0.0	.	1192	Q8IWJ2	GCC2_HUMAN	V	1192	ENSP00000307939:I1192V	ENSP00000307939:I1192V	I	+	1	0	GCC2	108467160	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.330000	0.72925	1.017000	0.39495	0.383000	0.25322	ATT		0.259	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		G	109100728	A	G	109100728	3	3	181	1	0	0	0	0	1	0	0	0	6288	101	4	3	3624	3	GCC2	2	109100728	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08	24003338	109100728	134098645	12	10550											
SLC35F5	80255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	114512805	114512805	+	Silent	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:114512805A>C	ENST00000245680.2	-	3	623	c.210T>G	c.(208-210)gcT>gcG	p.A70A	SLC35F5_ENST00000409342.1_Silent_p.A64A	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	70					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.A70A(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CAATCCCAAGAGCCATTCGCC	0.408																																																1	Substitution - coding silent(1)	kidney(1)											87	84	85					2																	114512805		2203	4300	6503	SO:0001819	synonymous_variant	80255			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.210T>G	2.37:g.114512805A>C			Q9H6P8|Q9H7D8	Silent	SNP	ENST00000245680.2	37	CCDS2119.1																																																																																				0.408	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		C	114512805	A	C	114512805	2	2	181	1	0	0	0	0	0	0	0	1	14598	291	11	5		5	SLC35F5	2	114512805	Silent	SNP	A	TCGA-B0-5096-01A-01D-1421-08	5412077	114512805	128686568	13	10551											
PROC	5624	broad.mit.edu;hgsc.bcm.edu	37	2	128186505	128186505	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:128186505A>C	ENST00000234071.3	+	9	1456	c.1369A>C	c.(1369-1371)Aag>Cag	p.K457Q	PROC_ENST00000409048.1_Missense_Mutation_p.K491Q|PROC_ENST00000422777.3_Missense_Mutation_p.K457Q|PROC_ENST00000453608.2_Missense_Mutation_p.K512Q	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	457					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.K457Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGCCCCCCAGAAGAGCTGGGC	0.572																																																1	Substitution - Missense(1)	kidney(1)											67	67	67					2																	128186505		2203	4300	6503	SO:0001583	missense	5624			X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1369A>C	2.37:g.128186505A>C	ENSP00000234071:p.Lys457Gln		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.40|12.40	1.926121|1.926121	0.34002|0.34002	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777|ENST00000402125	D;D;D;D|.	0.92299|.	-2.98;-3.01;-3.01;-2.98|.	4.95|4.95	-9.9|-9.9	0.00461|0.00461	.|.	1.176010|.	0.06387|.	N|.	0.716379|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.05078|0.05078	-0.115|-0.115	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.16603|.	0.008;0.008;0.018;0.008|.	B;B;B;B|.	0.14023|.	0.01;0.006;0.005;0.006|.	T|T	0.32268|0.32268	-0.9913|-0.9913	10|5	0.45353|.	T|.	0.12|.	.|.	11.3529|11.3529	0.49598|0.49598	0.6915:0.2026:0.1059:0.0|0.6915:0.2026:0.1059:0.0	.|.	512;513;491;457|.	B4DPQ7;B4DPQ3;E7END6;P04070|.	.;.;.;PROC_HUMAN|.	Q|S	457;416;512;491;457|231	ENSP00000234071:K457Q;ENSP00000404030:K512Q;ENSP00000386679:K491Q;ENSP00000409543:K457Q|.	ENSP00000234071:K457Q|.	K|R	+|+	1|3	0|2	PROC|PROC	127902975|127902975	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.804000|-0.804000	0.04535|0.04535	-1.890000|-1.890000	0.01111|0.01111	-0.993000|-0.993000	0.02533|0.02533	AAG|AGA		0.572	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		C	128186505	A	C	128186505	3	2	181	1	0	0	0	0	1	0	0	0	12550	247	9	5	1399	5	PROC	2	128186505	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08	13673700	128186505	115012868	14	10552											
KCNH7	90134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	163241431	163241431	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:163241431G>C	ENST00000332142.5	-	13	2828	c.2729C>G	c.(2728-2730)cCt>cGt	p.P910R		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	910					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.P910R(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGAGTCTTCAGGATCATTTGT	0.343																																					GBM(196;1492 2208 17507 24132 45496)											1	Substitution - Missense(1)	kidney(1)											121	116	118					2																	163241431		2203	4299	6502	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2729C>G	2.37:g.163241431G>C	ENSP00000331727:p.Pro910Arg		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481632	0.26598	.	.	ENSG00000184611	ENST00000332142	D	0.98512	-4.97	5.6	4.72	0.59763	.	0.583591	0.19840	N	0.104880	D	0.93592	0.7954	N	0.08118	0	0.80722	D	1	B	0.28324	0.207	B	0.21546	0.035	D	0.91580	0.5278	10	0.38643	T	0.18	.	13.6049	0.62041	0.0742:0.0:0.9258:0.0	.	910	Q9NS40	KCNH7_HUMAN	R	910	ENSP00000331727:P910R	ENSP00000331727:P910R	P	-	2	0	KCNH7	162949677	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.588000	0.53964	1.388000	0.46506	0.655000	0.94253	CCT		0.343	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		C	163241431	G	C	163241431	3	2	181	1	0	0	0	0	1	0	0	0	8039	1000	35	4	877	4	KCNH7	2	163241431	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	35054926	163241431	79957942	15	10553											
CYBRD1	79901	broad.mit.edu;hgsc.bcm.edu	37	2	172411334	172411334	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:172411334G>A	ENST00000321348.4	+	4	1056	c.858G>A	c.(856-858)atG>atA	p.M286I	CYBRD1_ENST00000409484.1_Missense_Mutation_p.M228I|CYBRD1_ENST00000375252.3_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	286					cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)	p.M286I(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GATCTACCATGTAAAATGTTG	0.398																																																1	Substitution - Missense(1)	kidney(1)											51	50	50					2																	172411334		2203	4300	6503	SO:0001583	missense	79901			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"Cytochrome b genes"	20797	protein-coding gene	gene with protein product	"ferric-chelate reductase 3", "cytochrome b561 family, member A2"	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.858G>A	2.37:g.172411334G>A	ENSP00000319141:p.Met286Ile		B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	ENST00000321348.4	37	CCDS2244.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.619013	0.66787	.	.	ENSG00000071967	ENST00000409484;ENST00000321348	T;T	0.57595	0.39;0.4	5.34	5.34	0.76211	.	0.125196	0.64402	D	0.000008	T	0.58652	0.2137	M	0.73598	2.24	0.80722	D	1	P	0.39831	0.69	B	0.39152	0.292	T	0.66388	-0.5936	10	0.87932	D	0	-12.0233	19.057	0.93069	0.0:0.0:1.0:0.0	.	286	Q53TN4	CYBR1_HUMAN	I	228;286	ENSP00000386739:M228I;ENSP00000319141:M286I	ENSP00000319141:M286I	M	+	3	0	CYBRD1	172119580	1.000000	0.71417	0.999000	0.59377	0.580000	0.36256	5.741000	0.68638	2.508000	0.84585	0.655000	0.94253	ATG		0.398	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843		A	172411334	G	A	172411334	3	1	181	1	0	0	0	0	1	0	0	0	4136	1377	48	2	872	2	CYBRD1	2	172411334	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	9169903	172411334	70788039	16	10554											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179417031	179417031	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:179417031C>T	ENST00000591111.1	-	285	85897	c.85673G>A	c.(85672-85674)gGa>gAa	p.G28558E	TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21326E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27631E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21259E|TTN_ENST00000589042.1_Missense_Mutation_p.G30199E|TTN_ENST00000460472.2_Missense_Mutation_p.G21134E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28558	Ig-like 132.				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)	p.G21134E(1)|p.G21326E(1)|p.G27631E(1)|p.G21259E(1)|p.G27629E(1)		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)			GTATTTTCCTCCATGCTCCTT	0.403																																																5	Substitution - Missense(5)	kidney(5)											100	96	98					2																	179417031		1930	4132	6062	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85673G>A	2.37:g.179417031C>T	ENSP00000465570:p.Gly28558Glu		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.21	2.765132	0.49574	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64349	0.2590	N	0.10645	0.015	0.45704	D	0.998612	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.63793	0.918;0.918;0.918;0.918	T	0.71699	-0.4514	9	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	21134;21259;21326;28558	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	27631;21134;21326;21259;21131	ENSP00000343764:G27631E;ENSP00000434586:G21134E;ENSP00000340554:G21326E;ENSP00000352154:G21259E	ENSP00000340554:G21326E	G	-	2	0	TTN	179125277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.510000	0.53393	2.882000	0.98803	0.655000	0.94253	GGA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179417031	C	T	179417031	3	4	181	1	0	0	0	0	1	0	0	0	16740	855	30	2	17495	2	TTN	2	179417031	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	7005697	179417031	63782342	17	10555											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179587903	179587903	+	Silent	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:179587903G>A	ENST00000591111.1	-	73	21104	c.20880C>T	c.(20878-20880)aaC>aaT	p.N6960N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.N6033N|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.N7277N|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12547	Ig-like 51.				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)	p.N6033N(1)		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)			TTGTGACTATGTTACATTTTT	0.403																																																1	Substitution - coding silent(1)	kidney(1)											124	113	117					2																	179587903		1839	4090	5929	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20880C>T	2.37:g.179587903G>A			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179587903	G	A	179587903	2	1	181	1	0	0	0	0	0	0	0	1	16740	1368	48	2		2	TTN	2	179587903	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08	170872	179587903	63611470	18	10556											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179665198	179665198	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:179665198C>G	ENST00000591111.1	-	4	731	c.507G>C	c.(505-507)gaG>gaC	p.E169D	TTN_ENST00000342175.6_Missense_Mutation_p.E169D|TTN_ENST00000342992.6_Missense_Mutation_p.E169D|TTN_ENST00000359218.5_Missense_Mutation_p.E169D|TTN_ENST00000589042.1_Missense_Mutation_p.E169D|TTN_ENST00000460472.2_Missense_Mutation_p.E169D|TTN_ENST00000360870.5_Missense_Mutation_p.E169D			Q8WZ42	TITIN_HUMAN	titin	32788	Ig-like 2.				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)	p.E169D(6)		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)			TCCCTGAGTCCTCAGGGTATG	0.483																																																6	Substitution - Missense(6)	kidney(6)											155	156	155					2																	179665198		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.507G>C	2.37:g.179665198C>G	ENSP00000465570:p.Glu169Asp		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	13.40	2.225600	0.39300	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	6.04	3.67	0.42095	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63177	0.2489	L	0.31752	0.955	0.27240	N	0.959179	P;P;P;P;P	0.49862	0.591;0.462;0.462;0.462;0.929	B;B;B;B;P	0.46629	0.312;0.312;0.312;0.312;0.522	T	0.55147	-0.8186	9	0.87932	D	0	.	9.22	0.37370	0.0:0.2119:0.0:0.7881	.	169;169;169;169;169	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	169	ENSP00000343764:E169D;ENSP00000434586:E169D;ENSP00000340554:E169D;ENSP00000352154:E169D;ENSP00000354117:E169D	ENSP00000340554:E169D	E	-	3	2	TTN	179373443	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	3.345000	0.52182	0.176000	0.19873	-0.360000	0.07572	GAG		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179665198	C	G	179665198	3	3	181	1	0	0	0	0	1	0	0	0	16740	680	24	4	110917	4	TTN	2	179665198	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	77295	179665198	63534175	19	10557											
SLC39A10	57181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	196545178	196545178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:196545178G>T	ENST00000409086.3	+	2	687	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.E138*|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	138	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.E138*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTTAAATTCAGAAAATCAAAC	0.353																																																1	Substitution - Nonsense(1)	kidney(1)											61	60	60					2																	196545178		2203	4300	6503	SO:0001587	stop_gained	57181				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.412G>T	2.37:g.196545178G>T	ENSP00000386766:p.Glu138*		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Nonsense_Mutation	SNP	ENST00000409086.3	37	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	37	6.026325	0.97216	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	.	.	.	4.91	4.91	0.64330	.	0.166295	0.39687	N	0.001297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2992	0.90158	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	.	E	+	1	0	SLC39A10	196253423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.364000	0.66110	2.557000	0.86248	0.655000	0.94253	GAA		0.353	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		T	196545178	G	T	196545178	4	4	181	1	0	0	0	0	0	1	0	0	14619	943	33	4	414	4	SLC39A10	2	196545178	Nonsense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	16879980	196545178	46654195	20	10558											
USP40	55230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234431845	234431845	+	Silent	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr2:234431845A>G	ENST00000427112.2	-	15	2204	c.2169T>C	c.(2167-2169)atT>atC	p.I723I	USP40_ENST00000450966.1_Silent_p.I735I|USP40_ENST00000251722.6_Silent_p.I723I			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	723					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.I735I(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCTGAATTAAAATTGAGCTTC	0.448																																																2	Substitution - coding silent(2)	kidney(2)											138	131	133					2																	234431845		1880	4113	5993	SO:0001819	synonymous_variant	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2169T>C	2.37:g.234431845A>G			Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	37	CCDS46547.1																																																																																				0.448	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		G	234431845	A	G	234431845	2	3	181	1	0	0	0	0	0	0	0	1	17077	10	1	3		3	USP40	2	234431845	Silent	SNP	A	TCGA-B0-5096-01A-01D-1421-08	37886667	234431845	8767528	21	10559											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188197	10188197	+	Splice_Site	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:10188197G>T	ENST00000256474.2	+	2	1180		c.e2-1		VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(10)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGTCCCGATAGGTCACCTTTG	0.537		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Unknown(10)	kidney(10)	GRCh37	CS014769|CS984220	VHL	S							164	152	156					3																	10188197		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.341-1G>T	3.37:g.10188197G>T			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763530	0.31228	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3181	0.82935	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163197	1.000000	0.71417	0.999000	0.59377	0.124000	0.20399	7.278000	0.78587	2.530000	0.85305	0.563000	0.77884	.		0.537	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	T	10188197	G	T	10188197	5	4	181	1	0	0	0	0	0	0	1	0	17167	1014	35	4	346	4	VHL	3	10188197	Splice_Site	SNP	G	TCGA-B0-5096-01A-01D-1421-08		10188197	187834233	22	10560											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443894	52443894	+	5'Flank	SNP	T	T	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:52443894T>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Start_Codon_SNP_p.M1V|BAP1_ENST00000296288.5_Start_Codon_SNP_p.M1V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.M1V(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCCTTATTCATCTTCCCGCGG	0.766																																																1	Substitution - Missense(1)	kidney(1)											24	30	28					3																	52443894		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443894T>C	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352684	0.82132	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.41400	1.0;1.0	5.06	5.06	0.68205	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	.	.	.	0.80722	D	1	P	0.38565	0.637	B	0.37692	0.256	T	0.42241	-0.9463	9	0.87932	D	0	-3.8616	13.0727	0.59070	0.0:0.0:0.0:1.0	.	1	Q92560	BAP1_HUMAN	V	1	ENSP00000417132:M1V;ENSP00000296288:M1V	ENSP00000296288:M1V	M	-	1	0	BAP1	52418934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.431000	0.73395	1.913000	0.55393	0.533000	0.62120	ATG		0.766	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		C	52443894	T	C	52443894	1	2	181	0	1	0	0	0	0	0	0	0	1311	1435	50	3		3	BAP1	3	52443894	5'Flank	SNP	T	TCGA-B0-5096-01A-01D-1421-08	42255697	52443894	145578536	23	10561											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52651339	52651339	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:52651339A>T	ENST00000296302.7	-	14	1758	c.1757T>A	c.(1756-1758)aTg>aAg	p.M586K	PBRM1_ENST00000409767.1_Missense_Mutation_p.M601K|PBRM1_ENST00000410007.1_Missense_Mutation_p.M586K|PBRM1_ENST00000356770.4_Missense_Mutation_p.M554K|PBRM1_ENST00000337303.4_Missense_Mutation_p.M586K|PBRM1_ENST00000409114.3_Missense_Mutation_p.M601K|PBRM1_ENST00000394830.3_Missense_Mutation_p.M586K|PBRM1_ENST00000409057.1_Missense_Mutation_p.M586K			Q86U86	PB1_HUMAN	polybromo 1	586	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.M586T(2)|p.M586K(2)|p.M554T(1)|p.M554K(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTCTTCTATCATTCCCTCTTC	0.443			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Missense(6)	kidney(6)											118	107	111					3																	52651339		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1757T>A	3.37:g.52651339A>T	ENSP00000296302:p.Met586Lys		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	19.30	3.800429	0.70567	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.84	5.84	0.93424	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	M	0.83603	2.65	0.80722	D	1	P;P;P;P;B;P;P;B;P	0.50066	0.676;0.799;0.711;0.489;0.226;0.799;0.888;0.208;0.931	P;P;P;B;B;P;P;B;D	0.69824	0.493;0.731;0.89;0.408;0.148;0.561;0.606;0.205;0.966	T	0.65344	-0.6191	10	0.87932	D	0	-18.2278	16.2167	0.82231	1.0:0.0:0.0:0.0	.	586;586;586;586;601;601;586;554;586	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	K	554;586;586;586;586;586;601;601;586;545	ENSP00000349213:M554K;ENSP00000378307:M586K;ENSP00000296302:M586K;ENSP00000338302:M586K;ENSP00000386593:M586K;ENSP00000386529:M586K;ENSP00000386643:M601K;ENSP00000386601:M601K;ENSP00000387775:M586K;ENSP00000397662:M545K	ENSP00000296302:M586K	M	-	2	0	PBRM1	52626379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.231000	0.72958	0.533000	0.62120	ATG		0.443	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52651339	A	T	52651339	3	4	181	1	0	0	0	0	1	0	0	0	11493	217	8	5	3211	5	PBRM1	3	52651339	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08	207445	52651339	145371091	24	10562											
MORC1	27136	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	108788593	108788593	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:108788593C>T	ENST00000483760.1	-	9	744	c.701G>A	c.(700-702)aGg>aAg	p.R234K	MORC1_ENST00000232603.5_Missense_Mutation_p.R234K					MORC family CW-type zinc finger 1									p.R234K(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAATGACCACCTCGCTGGGAA	0.358																																																1	Substitution - Missense(1)	kidney(1)											90	87	88					3																	108788593		2203	4300	6503	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.701G>A	3.37:g.108788593C>T	ENSP00000417282:p.Arg234Lys			Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	C	11.87	1.768444	0.31320	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06068	3.35;3.35	4.93	3.1	0.35709	ATPase-like, ATP-binding domain (1);	0.253345	0.28470	N	0.015225	T	0.06872	0.0175	M	0.66939	2.045	0.30657	N	0.754762	P;B	0.43094	0.799;0.053	B;B	0.35182	0.197;0.04	T	0.13818	-1.0495	10	0.28530	T	0.3	-14.1038	8.2969	0.31990	0.0:0.754:0.1585:0.0875	.	234;234	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	234	ENSP00000232603:R234K;ENSP00000417282:R234K	ENSP00000232603:R234K	R	-	2	0	MORC1	110271283	0.977000	0.34250	0.998000	0.56505	0.392000	0.30506	2.382000	0.44345	0.751000	0.32900	0.655000	0.94253	AGG		0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			T	108788593	C	T	108788593	3	4	181	1	0	0	0	0	1	0	0	0	9703	681	24	2	2333	2	MORC1	3	108788593	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	56137254	108788593	89233837	25	10563											
DNAJC13	23317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132245126	132245126	+	Splice_Site	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:132245126G>A	ENST00000260818.6	+	53	6629		c.e53+1			NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13						osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.?(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGTAGCACAAGTAAGTGACTT	0.368																																																1	Unknown(1)	kidney(1)											99	97	98					3																	132245126		2203	4300	6503	SO:0001630	splice_region_variant	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6381+1G>A	3.37:g.132245126G>A			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Splice_Site	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732536	0.89482	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3962	0.94608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC13	133727816	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.646000	0.98474	2.662000	0.90505	0.591000	0.81541	.		0.368	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	Intron	A	132245126	G	A	132245126	5	1	181	1	0	0	0	0	0	0	1	0	4634	1043	36	2	6588	2	DNAJC13	3	132245126	Splice_Site	SNP	G	TCGA-B0-5096-01A-01D-1421-08	23456533	132245126	65777304	26	10564											
A4GNT	51146	broad.mit.edu;ucsc.edu	37	3	137843327	137843327	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:137843327A>C	ENST00000236709.3	-	3	1003	c.802T>G	c.(802-804)Tgg>Ggg	p.W268G		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	268					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.W268G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TAGCGCCTCCACTCTCGATAG	0.498																																																1	Substitution - Missense(1)	kidney(1)											87	85	86					3																	137843327		2203	4300	6503	SO:0001583	missense	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.802T>G	3.37:g.137843327A>C	ENSP00000236709:p.Trp268Gly		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.704080	0.68615	.	.	ENSG00000118017	ENST00000236709	T	0.73897	-0.79	5.31	5.31	0.75309	Alpha 1,4-glycosyltransferase domain (1);	0.000000	0.64402	D	0.000002	D	0.87954	0.6308	M	0.89478	3.035	0.52099	D	0.999943	D	0.89917	1.0	D	0.81914	0.995	D	0.90054	0.4151	10	0.62326	D	0.03	-16.8644	15.2592	0.73610	1.0:0.0:0.0:0.0	.	268	Q9UNA3	A4GCT_HUMAN	G	268	ENSP00000236709:W268G	ENSP00000236709:W268G	W	-	1	0	A4GNT	139326017	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	6.301000	0.72782	1.996000	0.58369	0.460000	0.39030	TGG		0.498	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		C	137843327	A	C	137843327	3	2	181	1	0	0	0	0	1	0	0	0	7	159	6	5	224	5	A4GNT	3	137843327	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08	5598201	137843327	60179103	27	10565											
SLC9A9	285195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142987800	142987800	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:142987800G>T	ENST00000316549.6	-	15	1835	c.1627C>A	c.(1627-1629)Cac>Aac	p.H543N		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	543					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.H543N(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGACCAGAGTGGGTTAAAATT	0.468																																																1	Substitution - Missense(1)	kidney(1)											146	143	144					3																	142987800		2203	4300	6503	SO:0001583	missense	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1627C>A	3.37:g.142987800G>T	ENSP00000320246:p.His543Asn		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628210	0.46944	.	.	ENSG00000181804	ENST00000316549	T	0.61274	0.12	5.69	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.73372	2.23	0.51233	D	0.999917	D	0.57899	0.981	D	0.67900	0.954	T	0.73319	-0.4020	10	0.35671	T	0.21	.	16.1329	0.81458	0.0:0.0:0.8654:0.1346	.	543	Q8IVB4	SL9A9_HUMAN	N	543	ENSP00000320246:H543N	ENSP00000320246:H543N	H	-	1	0	SLC9A9	144470490	1.000000	0.71417	0.989000	0.46669	0.351000	0.29236	7.103000	0.77014	1.389000	0.46526	0.655000	0.94253	CAC		0.468	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		T	142987800	G	T	142987800	3	4	181	1	0	0	0	0	1	0	0	0	14727	1348	47	4	318	4	SLC9A9	3	142987800	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	5144473	142987800	55034630	28	10566											
OPA1	4976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	193355797	193355797	+	Silent	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr3:193355797C>G	ENST00000392438.3	+	9	1161	c.927C>G	c.(925-927)gcC>gcG	p.A309A	OPA1_ENST00000361908.3_Silent_p.A346A|OPA1_ENST00000361715.2_Silent_p.A328A|OPA1_ENST00000361510.2_Silent_p.A364A|OPA1_ENST00000361828.2_Silent_p.A327A|OPA1_ENST00000361150.2_Silent_p.A310A	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	309	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.A364A(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAATGATTGCCCAAGCTCGAA	0.433																																																1	Substitution - coding silent(1)	kidney(1)											183	170	175					3																	193355797		2203	4300	6503	SO:0001819	synonymous_variant	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.927C>G	3.37:g.193355797C>G			D3DNW4	Silent	SNP	ENST00000392438.3	37	CCDS43186.1																																																																																				0.433	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		G	193355797	C	G	193355797	2	3	181	1	0	0	0	0	0	0	0	1	10873	610	22	4		4	OPA1	3	193355797	Silent	SNP	C	TCGA-B0-5096-01A-01D-1421-08	50367997	193355797	4666633	29	10567											
WHSC1	7468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1920240	1920240	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr4:1920240G>C	ENST00000382895.3	+	7	1731	c.1300G>C	c.(1300-1302)Gga>Cga	p.G434R	WHSC1_ENST00000398261.1_Missense_Mutation_p.G434R|WHSC1_ENST00000508803.1_Missense_Mutation_p.G434R|WHSC1_ENST00000382892.2_Missense_Mutation_p.G434R|WHSC1_ENST00000382891.5_Missense_Mutation_p.G434R|WHSC1_ENST00000420906.2_Missense_Mutation_p.G434R|WHSC1_ENST00000503128.1_Missense_Mutation_p.G434R|WHSC1_ENST00000514045.1_Missense_Mutation_p.G434R	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	434					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.G434R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCCCAGAAGAGGAGTAGGGTC	0.552			T	IGH@	MM																																		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	2	Substitution - Missense(2)	kidney(2)											31	34	33					4																	1920240		2203	4300	6503	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1300G>C	4.37:g.1920240G>C	ENSP00000372351:p.Gly434Arg		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261228	0.80246	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261	D;T;D;D;T;D;T;T	0.95137	-3.62;1.16;-3.62;-3.62;1.16;-3.62;1.15;1.15	5.22	5.22	0.72569	High mobility group, superfamily (1);	0.000000	0.52532	D	0.000065	D	0.95424	0.8514	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	1.0;0.989;1.0;1.0	D;P;D;D	0.97110	1.0;0.806;1.0;1.0	D	0.94909	0.8063	10	0.52906	T	0.07	.	12.4954	0.55925	0.0769:0.0:0.9231:0.0	.	434;434;434;434	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	R	434	ENSP00000423972:G434R;ENSP00000421681:G434R;ENSP00000372347:G434R;ENSP00000372348:G434R;ENSP00000399251:G434R;ENSP00000372351:G434R;ENSP00000425761:G434R;ENSP00000381311:G434R	ENSP00000308780:G434R	G	+	1	0	WHSC1	1890038	1.000000	0.71417	0.947000	0.38551	0.859000	0.49053	4.821000	0.62679	2.592000	0.87571	0.555000	0.69702	GGA		0.552	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		C	1920240	G	C	1920240	3	2	181	1	0	0	0	0	1	0	0	0	17367	1001	35	4	1314	4	WHSC1	4	1920240	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08		1920240	189234036	30	10568											
ALB	213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	74283985	74283985	+	Missense_Mutation	SNP	A	A	G	rs77081291		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr4:74283985A>G	ENST00000503124.1	+	10	1366	c.1159A>G	c.(1159-1161)Ata>Gta	p.I387V	ALB_ENST00000401494.3_Missense_Mutation_p.I422V|ALB_ENST00000415165.2_Missense_Mutation_p.I345V|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000295897.4_Missense_Mutation_p.I537V|ALB_ENST00000509063.1_Missense_Mutation_p.I537V			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.I537V(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCATGCAGATATATGCACACT	0.403																																																1	Substitution - Missense(1)	kidney(1)											115	112	113					4																	74283985		2203	4300	6503	SO:0001583	missense	213			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1159A>G	4.37:g.74283985A>G	ENSP00000421027:p.Ile387Val		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.26|11.26	1.586730|1.586730	0.28268|0.28268	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.70516|.	-0.49;-0.49;-0.49;-0.49;-0.49|.	5.94|5.94	-7.97|-7.97	0.01139|0.01139	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	0.799297|.	0.11571|.	N|.	0.550791|.	T|T	0.38692|0.38692	0.1050|0.1050	M|M	0.73598|0.73598	2.24|2.24	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.14578|.	0.001;0.001;0.0;0.011;0.001|.	T|T	0.48068|0.48068	-0.9067|-0.9067	10|5	0.59425|.	D|.	0.04|.	-2.6223|-2.6223	1.7157|1.7157	0.02901|0.02901	0.2784:0.1059:0.1521:0.4637|0.2784:0.1059:0.1521:0.4637	.|.	422;345;387;537;537|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	V|C	537;345;324;387;537;422;546|381	ENSP00000295897:I537V;ENSP00000401820:I345V;ENSP00000421027:I387V;ENSP00000422784:I537V;ENSP00000384695:I422V|.	ENSP00000295897:I537V|.	I|Y	+|+	1|2	0|0	ALB|ALB	74502849|74502849	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.842000|0.842000	0.47809|0.47809	-0.474000|-0.474000	0.06607|0.06607	-0.889000|-0.889000	0.03950|0.03950	-0.297000|-0.297000	0.09499|0.09499	ATA|TAT		0.403	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		G	74283985	A	G	74283985	3	3	181	1	0	0	0	0	1	0	0	0	486	449	16	3	1655	3	ALB	4	74283985	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08	72363745	74283985	116870291	31	10569											
CCNI	10983	broad.mit.edu;ucsc.edu	37	4	77969663	77969663	+	Silent	SNP	G	G	T	rs367798805		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr4:77969663G>T	ENST00000237654.4	-	7	1419	c.843C>A	c.(841-843)ccC>ccA	p.P281P	CCNI_ENST00000537948.1_Silent_p.P267P	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	281					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)			p.P281P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GGACAGAGGAGGGATGTAATC	0.537																																																1	Substitution - coding silent(1)	kidney(1)											143	136	138					4																	77969663		2203	4300	6503	SO:0001819	synonymous_variant	10983			D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.843C>A	4.37:g.77969663G>T			B2R6M0|B7Z6X4	Silent	SNP	ENST00000237654.4	37	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	G	6.865	0.528873	0.13127	.	.	ENSG00000118816	ENST00000515468	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	T	0.65407	0.2688	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62886	-0.6759	4	.	.	.	-0.5727	13.0828	0.59123	0.0729:0.0:0.9271:0.0	.	.	.	.	I	81	.	.	L	-	1	0	CCNI	78188687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.244000	0.58728	2.683000	0.91414	0.655000	0.94253	CTC		0.537	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		T	77969663	G	T	77969663	2	4	181	1	0	0	0	0	0	0	0	1	2928	987	35	4		4	CCNI	4	77969663	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08	3685678	77969663	113184613	32	10570											
ABCG2	9429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	89016750	89016750	+	Silent	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr4:89016750A>G	ENST00000237612.3	-	14	2204	c.1659T>C	c.(1657-1659)ggT>ggC	p.G553G	ABCG2_ENST00000515655.1_Splice_Site_p.V550A	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	553	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G553G(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TGACCAACAGACCTGAAAAAA	0.408																																																2	Substitution - coding silent(2)	kidney(2)											122	99	107					4																	89016750		2203	4300	6503	SO:0001819	synonymous_variant	9429			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1659T>C	4.37:g.89016750A>G			A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603510	0.28534	.	.	ENSG00000118777	ENST00000515655	T	0.72282	-0.64	5.91	-3.31	0.04988	.	.	.	.	.	T	0.54902	0.1887	.	.	.	0.80722	D	1	P	0.42010	0.768	P	0.44772	0.46	T	0.53358	-0.8450	8	0.25751	T	0.34	-5.6603	1.6787	0.02827	0.2042:0.3515:0.2567:0.1876	.	550	Q9UNQ0-2	.	A	550	ENSP00000426917:V550A	ENSP00000426917:V550A	V	-	2	0	ABCG2	89235774	0.086000	0.21541	0.927000	0.36925	0.009000	0.06853	-0.591000	0.05753	-0.462000	0.06984	-1.219000	0.01604	GTC		0.408	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		G	89016750	A	G	89016750	2	3	181	1	0	0	0	0	0	0	0	1	69	262	10	3		3	ABCG2	4	89016750	Silent	SNP	A	TCGA-B0-5096-01A-01D-1421-08	11047087	89016750	102137526	33	10571											
GPX8	493869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54459987	54459987	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr5:54459987A>G	ENST00000503787.1	+	3	646	c.571A>G	c.(571-573)Agg>Ggg	p.R191G	CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000296734.6_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000322374.6_Intron|GPX8_ENST00000506123.1_3'UTR|GPX8_ENST00000515370.1_Missense_Mutation_p.R140G|CDC20B_ENST00000296733.1_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	191					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)	p.R191G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TGAAGTCATCAGGCCTGACAT	0.423																																																1	Substitution - Missense(1)	kidney(1)											60	61	60					5																	54459987		2203	4300	6503	SO:0001583	missense	493869			BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.571A>G	5.37:g.54459987A>G	ENSP00000423822:p.Arg191Gly			Missense_Mutation	SNP	ENST00000503787.1	37	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763425	0.49574	.	.	ENSG00000164294	ENST00000503787;ENST00000515370	T;T	0.04049	3.72;3.72	5.92	4.75	0.60458	Thioredoxin-like fold (2);	0.227351	0.51477	D	0.000084	T	0.08313	0.0207	M	0.70903	2.155	0.42544	D	0.993088	B;P	0.36909	0.42;0.573	B;B	0.35550	0.105;0.205	T	0.04915	-1.0918	10	0.52906	T	0.07	.	12.0322	0.53403	0.7259:0.2741:0.0:0.0	.	140;191	E7ETY7;Q8TED1	.;GPX8_HUMAN	G	191;140	ENSP00000423822:R191G;ENSP00000427466:R140G	ENSP00000423822:R191G	R	+	1	2	GPX8	54495744	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.189000	0.42621	1.033000	0.39918	0.528000	0.53228	AGG		0.423	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397		G	54459987	A	G	54459987	3	3	181	1	0	0	0	0	1	0	0	0	6748	179	7	3	581	3	GPX8	5	54459987	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08		54459987	126455273	34	10572											
LARS	51520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145557190	145557190	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr5:145557190C>T	ENST00000394434.2	-	2	211	c.45G>A	c.(43-45)aaG>aaA	p.K15K	LARS_ENST00000545646.1_Silent_p.K15K|LARS_ENST00000274562.9_Silent_p.K15K|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_Intron	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	15					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.K15K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTTCTCAATCTTCTTCAAAA	0.363																																																1	Substitution - coding silent(1)	kidney(1)											134	127	129					5																	145557190		2203	4299	6502	SO:0001819	synonymous_variant	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.45G>A	5.37:g.145557190C>T			A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																				0.363	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		T	145557190	C	T	145557190	2	4	181	1	0	0	0	0	0	0	0	1	8636	912	32	2		2	LARS	5	145557190	Silent	SNP	C	TCGA-B0-5096-01A-01D-1421-08	91097203	145557190	35358070	35	10573											
THOC3	84321	broad.mit.edu	37	5	175387036	175387036	+	Missense_Mutation	SNP	C	C	T	rs139761351		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr5:175387036C>T	ENST00000265097.4	-	6	1082	c.992G>A	c.(991-993)gGc>gAc	p.G331D	THOC3_ENST00000514861.1_Missense_Mutation_p.G146D|THOC3_ENST00000510300.1_5'Flank|RP11-91H12.4_ENST00000502813.1_RNA	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	331					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.G331D(1)		endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GTCATATTTGCCGTCTTTGTC	0.557																																																1	Substitution - Missense(1)	kidney(1)											28	33	31					5																	175387036		1901	3659	5560	SO:0001583	missense	84321			BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"WD repeat domain containing", "THO complex subunits"	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.992G>A	5.37:g.175387036C>T	ENSP00000265097:p.Gly331Asp		Q6NZ53	Missense_Mutation	SNP	ENST00000265097.4	37	CCDS4397.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358184	0.61403	.	.	ENSG00000051596	ENST00000265097;ENST00000514861	T;T	0.75154	0.23;-0.91	5.13	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	N	0.20685	0.6	0.80722	D	1	P	0.36086	0.536	B	0.27380	0.079	T	0.56571	-0.7957	10	0.38643	T	0.18	-22.839	12.6741	0.56884	0.0:0.9199:0.0:0.0801	.	331	Q96J01	THOC3_HUMAN	D	331;146	ENSP00000265097:G331D;ENSP00000425039:G146D	ENSP00000265097:G331D	G	-	2	0	THOC3	175319642	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.743000	0.85020	1.159000	0.42565	-0.192000	0.12808	GGC		0.557	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253148.1			T	175387036	C	T	175387036	3	4	181	1	0	0	0	0	1	0	0	0	15871	739	26	2	67	2	THOC3	5	175387036	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	29829846	175387036	5528224	36	10574											
SNRNP48	154007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7605680	7605680	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:7605680G>A	ENST00000342415.5	+	7	826	c.767G>A	c.(766-768)tGg>tAg	p.W256*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	256					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)	p.W256*(1)		kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGCAATCATTGGCAAGAAGAG	0.383																																																1	Substitution - Nonsense(1)	kidney(1)											129	111	117					6																	7605680		2203	4300	6503	SO:0001587	stop_gained	154007			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.767G>A	6.37:g.7605680G>A	ENSP00000339834:p.Trp256*		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Nonsense_Mutation	SNP	ENST00000342415.5	37	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090974	0.76756	.	.	ENSG00000168566	ENST00000342415	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6761	17.853	0.88754	0.0:0.0:1.0:0.0	.	.	.	.	X	256	.	ENSP00000339834:W256X	W	+	2	0	SNRNP48	7550679	1.000000	0.71417	0.987000	0.45799	0.159000	0.22180	8.309000	0.89969	2.816000	0.96949	0.561000	0.74099	TGG		0.383	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		A	7605680	G	A	7605680	4	1	181	1	0	0	0	0	0	1	0	0	14863	1357	47	2	793	2	SNRNP48	6	7605680	Nonsense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08		7605680	163509387	37	10575											
OR12D3	81797	broad.mit.edu;hgsc.bcm.edu	37	6	29342284	29342284	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:29342284G>A	ENST00000396806.3	-	1	784	c.781C>T	c.(781-783)Cct>Tct	p.P261S	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P261S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GCTGAAGCAGGACGAATATAT	0.488																																																1	Substitution - Missense(1)	kidney(1)											83	76	79					6																	29342284		1510	2708	4218	SO:0001583	missense	81797				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"GPCR / Class A : Olfactory receptors"	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.781C>T	6.37:g.29342284G>A	ENSP00000380023:p.Pro261Ser		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177012	0.38413	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00262	8.4	4.19	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.73962	2.25	0.18873	N	0.999987	P	0.44195	0.828	P	0.50934	0.654	T	0.09907	-1.0653	9	0.66056	D	0.02	-12.2264	11.5625	0.50785	0.0895:0.0:0.9105:0.0	.	261	Q9UGF7	O12D3_HUMAN	S	261	ENSP00000380023:P261S	ENSP00000366348:P261S	P	-	1	0	OR12D3	29450263	0.001000	0.12720	0.005000	0.12908	0.271000	0.26615	0.254000	0.18314	0.964000	0.38108	0.205000	0.17691	CCT		0.488	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			A	29342284	G	A	29342284	3	1	181	1	0	0	0	0	1	0	0	0	10934	1174	41	2	173	2	OR12D3	6	29342284	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	21736604	29342284	141772783	38	10576											
VARS2	57176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	30884693	30884694	+	Missense_Mutation	DNP	GT	GT	AC			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:30884693_30884694GT>AC	ENST00000321897.5	+	7	1342_1343	c.710_711GT>AC	c.(709-711)gGT>gAC	p.G237D	VARS2_ENST00000541562.1_Missense_Mutation_p.G267D|VARS2_ENST00000542001.1_Missense_Mutation_p.G97D|VARS2_ENST00000416670.2_Missense_Mutation_p.G237D			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	237					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.G237G(1)|p.G237D(1)|p.G237>?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CGAGCTCTGGGTGCCTCCCTGG	0.54																																																3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	Exception_encountered	6.37:g.30884693_30884694delinsAC	ENSP00000316092:p.Gly237Asp		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation|Silent	SNP	ENST00000321897.5	37	CCDS34387.1																																																																																				0.54	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		AC	30884694	GT	AC	30884693	3	1	181	1	0	0	0	0	1	0	0	0	17129	1261	44	2	830	2	VARS2	6	30884693	Missense_Mutation	DNP	GT	TCGA-B0-5096-01A-01D-1421-08	1542409	30884693	140230374	39	10577											
EHMT2	10919	broad.mit.edu;hgsc.bcm.edu	37	6	31855386	31855386	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:31855386T>C	ENST00000375537.4	-	15	1985	c.1979A>G	c.(1978-1980)cAg>cGg	p.Q660R	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.Q683R|EHMT2_ENST00000375530.4_Missense_Mutation_p.Q626R|EHMT2_ENST00000395728.3_Missense_Mutation_p.Q717R	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	660					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.Q660R(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGCTCGCCCTGCTTCACGGA	0.582																																																1	Substitution - Missense(1)	kidney(1)											129	91	105					6																	31855386		1511	2709	4220	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1979A>G	6.37:g.31855386T>C	ENSP00000364687:p.Gln660Arg		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.166403	0.57476	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	N	0.24115	0.695	0.50813	D	0.999896	B;B;B;B	0.22800	0.033;0.026;0.075;0.026	B;B;B;B	0.25759	0.042;0.015;0.017;0.063	T	0.34750	-0.9816	10	0.46703	T	0.11	.	14.2515	0.66023	0.0:0.0:0.0:1.0	.	683;626;660;474	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	R	717;683;626;660;474	ENSP00000379078:Q717R;ENSP00000364678:Q683R;ENSP00000364680:Q626R;ENSP00000364687:Q660R	ENSP00000364678:Q683R	Q	-	2	0	EHMT2	31963365	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	5.781000	0.68964	2.012000	0.59069	0.533000	0.62120	CAG		0.582	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		C	31855386	T	C	31855386	3	2	181	1	0	0	0	0	1	0	0	0	4986	1580	55	3	1709	3	EHMT2	6	31855386	Missense_Mutation	SNP	T	TCGA-B0-5096-01A-01D-1421-08	970693	31855386	139259681	40	10578											
PBX2	5089	hgsc.bcm.edu	37	6	32155054	32155054	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:32155054C>T	ENST00000375050.4	-	6	1259	c.989G>A	c.(988-990)aGc>aAc	p.S330N	XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375076.4_5'Flank|AGER_ENST00000375070.3_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	330					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCTGGTGCGGCTGTGGCCCCC	0.547																																																0													51	54	53					6																	32155054		1511	2708	4219	SO:0001583	missense	5089				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.989G>A	6.37:g.32155054C>T	ENSP00000364190:p.Ser330Asn		A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360953	0.61403	.	.	ENSG00000204304	ENST00000375050	D	0.88201	-2.35	5.56	5.56	0.83823	.	0.000000	0.48767	U	0.000174	D	0.85991	0.5826	N	0.20685	0.6	0.80722	D	1	D;B	0.57899	0.981;0.002	D;B	0.65140	0.932;0.005	D	0.84072	0.0380	10	0.20519	T	0.43	-17.6179	17.012	0.86409	0.0:1.0:0.0:0.0	.	330;330	Q7KZE5;P40425	.;PBX2_HUMAN	N	330	ENSP00000364190:S330N	ENSP00000364190:S330N	S	-	2	0	PBX2	32263032	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.601000	0.54059	2.618000	0.88619	0.655000	0.94253	AGC		0.547	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			T	32155054	C	T	32155054	3	4	181	1	0	0	0	0	1	0	0	0	11495	797	28	2	319	2	PBX2	6	32155054	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	299668	32155054	138960013	41	10579											
NOTCH4	4855	broad.mit.edu;hgsc.bcm.edu	37	6	32170158	32170158	+	Silent	SNP	C	C	T	rs541604461		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:32170158C>T	ENST00000375023.3	-	21	3588	c.3450G>A	c.(3448-3450)acG>acA	p.T1150T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1150	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.T1150T(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCCCCAAGCCCGTGGTCTCTG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16973	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											15	16	16					6																	32170158		1503	2704	4207	SO:0001819	synonymous_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3450G>A	6.37:g.32170158C>T			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	CCDS34420.1																																																																																				0.642	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			T	32170158	C	T	32170158	2	4	181	1	0	0	0	0	0	0	0	1	10553	639	23	1		1	NOTCH4	6	32170158	Silent	SNP	C	TCGA-B0-5096-01A-01D-1421-08	15104	32170158	138944909	42	10580											
FOXP4	116113	broad.mit.edu;hgsc.bcm.edu	37	6	41554889	41554889	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr6:41554889C>T	ENST00000307972.4	+	5	665	c.653C>T	c.(652-654)cCg>cTg	p.P218L	FOXP4_ENST00000409208.1_Missense_Mutation_p.P218L|FOXP4_ENST00000373063.3_Missense_Mutation_p.P218L|FOXP4_ENST00000373060.1_Missense_Mutation_p.P218L|FOXP4_ENST00000373057.3_Missense_Mutation_p.P216L			Q8IVH2	FOXP4_HUMAN	forkhead box P4	218	Gln-rich.				embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P218L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGACCCTTCCGCAAGGTGAG	0.652											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				2	Substitution - Missense(2)	kidney(2)											14	18	17					6																	41554889		2172	4247	6419	SO:0001583	missense	116113			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.653C>T	6.37:g.41554889C>T	ENSP00000309823:p.Pro218Leu	902	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834987	0.71373	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.4	4.4	0.53042	.	0.068711	0.64402	D	0.000013	T	0.34745	0.0908	M	0.66939	2.045	0.50313	D	0.999865	P;P;P	0.47677	0.804;0.804;0.899	B;B;B	0.38803	0.058;0.085;0.282	T	0.41592	-0.9500	10	0.44086	T	0.13	.	16.9708	0.86298	0.0:1.0:0.0:0.0	.	218;216;218	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	L	218;218;218;216;218	ENSP00000362151:P218L;ENSP00000362154:P218L;ENSP00000386958:P218L;ENSP00000362148:P216L;ENSP00000309823:P218L	ENSP00000309823:P218L	P	+	2	0	FOXP4	41662867	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.019000	0.70818	1.988000	0.58038	0.462000	0.41574	CCG		0.652	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		T	41554889	C	T	41554889	3	4	181	1	0	0	0	0	1	0	0	0	6031	652	23	1	671	1	FOXP4	6	41554889	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	9384731	41554889	129560178	43	10581											
COBL	23242	hgsc.bcm.edu	37	7	51096357	51096358	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:51096357_51096358insT	ENST00000265136.7	-	10	2600_2601	c.2435_2436insA	c.(2434-2436)aagfs	p.K812fs	COBL_ENST00000395542.2_Frame_Shift_Ins_p.K894fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	812					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCGATATTGGCTTGGGGTCTGC	0.663																																					NSCLC(189;2119 2138 12223 30818 34679)											0																																										SO:0001589	frameshift_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2436dupA	7.37:g.51096359_51096359dupT	ENSP00000265136:p.Lys812fs		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Frame_Shift_Ins	INS	ENST00000265136.7	37	CCDS34637.1																																																																																				0.663	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		T	51096358	-	T	51096357	7	5	181	1	0	1	1	0	0	0	0	0	3655	796	28	0	1365	0	COBL	7	51096357	Frame_Shift_Ins	INS	-	TCGA-B0-5096-01A-01D-1421-08		51096357	108042306	44	10582											
MLXIPL	51085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	73011232	73011232	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:73011232A>G	ENST00000313375.3	-	10	1681	c.1634T>C	c.(1633-1635)cTt>cCt	p.L545P	MLXIPL_ENST00000429400.2_Missense_Mutation_p.L545P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L545P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L452P|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L452P|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L545P	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	545					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L545P(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTGGATACAAGTGGTGGCTC	0.672																																																1	Substitution - Missense(1)	kidney(1)											51	56	54					7																	73011232		2203	4300	6503	SO:0001583	missense	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1634T>C	7.37:g.73011232A>G	ENSP00000320886:p.Leu545Pro		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	a	4.751	0.139723	0.09083	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.25414	2.44;2.42;2.41;2.45;1.81;1.8	4.17	0.383	0.16239	.	1.280160	0.05420	U	0.544034	T	0.15132	0.0365	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.17667	0.012;0.023;0.002;0.004;0.004;0.004	B;B;B;B;B;B	0.15870	0.008;0.012;0.006;0.014;0.009;0.009	T	0.29610	-1.0006	10	0.33141	T	0.24	-3.7293	6.4484	0.21890	0.6425:0.0:0.3575:0.0	.	452;452;545;545;545;545	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	P	545;545;545;545;452;452	ENSP00000412330:L545P;ENSP00000406296:L545P;ENSP00000320886:L545P;ENSP00000346629:L545P;ENSP00000378616:L452P;ENSP00000392636:L452P	ENSP00000320886:L545P	L	-	2	0	MLXIPL	72649168	0.000000	0.05858	0.021000	0.16686	0.826000	0.46750	-0.052000	0.11865	0.154000	0.19237	0.348000	0.21847	CTT		0.672	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		G	73011232	A	G	73011232	3	3	181	1	0	0	0	0	1	0	0	0	9639	72	3	3	956	3	MLXIPL	7	73011232	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08	21914875	73011232	86127431	45	10583											
LAMB1	3912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107596066	107596066	+	Silent	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:107596066A>G	ENST00000222399.6	-	21	2930	c.2700T>C	c.(2698-2700)gcT>gcC	p.A900A	LAMB1_ENST00000393561.1_Silent_p.A924A	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	900	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.A900A(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CATAGTAACCAGCCAAGCACC	0.542																																																1	Substitution - coding silent(1)	kidney(1)											48	43	45					7																	107596066		2203	4300	6503	SO:0001819	synonymous_variant	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2700T>C	7.37:g.107596066A>G			Q14D91	Silent	SNP	ENST00000222399.6	37	CCDS5750.1																																																																																				0.542	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		G	107596066	A	G	107596066	2	3	181	1	0	0	0	0	0	0	0	1	8612	175	7	3		3	LAMB1	7	107596066	Silent	SNP	A	TCGA-B0-5096-01A-01D-1421-08	34584834	107596066	51542597	46	10584											
LAMB4	22798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107720165	107720165	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:107720165G>A	ENST00000388781.3	-	15	1851	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	LAMB4_ENST00000205386.4_Missense_Mutation_p.P590S|LAMB4_ENST00000418464.1_Missense_Mutation_p.P590S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P590S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P590S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	590	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.P590S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CATGTAACAGGGTTCCCAGGA	0.512																																																1	Substitution - Missense(1)	kidney(1)											67	62	63					7																	107720165		2203	4300	6503	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1768C>T	7.37:g.107720165G>A	ENSP00000373433:p.Pro590Ser		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538167	0.27475	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.29655	1.57;1.57;1.59;1.56;1.61	5.31	4.41	0.53225	Laminin IV (1);	0.132116	0.34802	N	0.003666	T	0.25791	0.0628	L	0.44542	1.39	0.09310	N	1	P	0.48407	0.91	P	0.45099	0.469	T	0.08432	-1.0722	10	0.09084	T	0.74	.	10.349	0.43922	0.0:0.2495:0.614:0.1366	.	590	A4D0S4	LAMB4_HUMAN	S	590	ENSP00000205386:P590S;ENSP00000373433:P590S;ENSP00000373432:P590S;ENSP00000402353:P590S;ENSP00000402265:P590S	ENSP00000205386:P590S	P	-	1	0	LAMB4	107507401	0.341000	0.24801	0.006000	0.13384	0.940000	0.58332	2.087000	0.41653	1.432000	0.47375	0.655000	0.94253	CCT		0.512	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		A	107720165	G	A	107720165	3	1	181	1	0	0	0	0	1	0	0	0	8615	1232	43	2	3597	2	LAMB4	7	107720165	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	124099	107720165	51418498	47	10585											
CAPZA2	830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116533094	116533094	+	Silent	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:116533094A>T	ENST00000361183.3	+	3	289	c.150A>T	c.(148-150)gcA>gcT	p.A50A	CAPZA2_ENST00000490693.1_Silent_p.A50A|CAPZA2_ENST00000458284.2_Silent_p.A50A	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	50					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.A50A(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			GGGAAGGAGCAGCCCAGTAAG	0.328																																																1	Substitution - coding silent(1)	kidney(1)											78	74	76					7																	116533094		2203	4300	6503	SO:0001819	synonymous_variant	830				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"F-actin capping protein alpha-2 subunit"	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.150A>T	7.37:g.116533094A>T			B4DG50	Silent	SNP	ENST00000361183.3	37	CCDS5768.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.793526	0.31685	.	.	ENSG00000198898	ENST00000464223;ENST00000484325	.	.	.	5.15	2.64	0.31445	.	.	.	.	.	T	0.62901	0.2466	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61357	-0.7079	5	0.87932	D	0	-3.6403	7.1779	0.25755	0.7773:0.1453:0.0774:0.0	.	.	.	.	L	28	.	ENSP00000420640:Q28L	Q	+	2	0	CAPZA2	116320330	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.391000	0.52530	0.315000	0.23110	0.533000	0.62120	CAG		0.328	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136		T	116533094	A	T	116533094	2	4	181	1	0	0	0	0	0	0	0	1	2643	175	7	5		5	CAPZA2	7	116533094	Silent	SNP	A	TCGA-B0-5096-01A-01D-1421-08	8812929	116533094	42605569	48	10586											
ZC3HC1	51530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129666109	129666110	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr7:129666109_129666110TC>AA	ENST00000358303.4	-	6	748_749	c.664_665GA>TT	c.(664-666)GAa>TTa	p.E222L	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.E201L|RNA5SP245_ENST00000364239.1_RNA|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.E222L|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.E222L	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	222					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.E222*(1)|p.E222V(1)|p.E222>?(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AAGTTCATCTTCAAGCAAGTGT	0.411																																					Melanoma(115;540 1606 16325 28853 48167)											3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	51530			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.664_665delinsAA	7.37:g.129666109_129666110delinsAA	ENSP00000351052:p.Glu222Leu		A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000358303.4	37	CCDS34753.1																																																																																				0.411	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		AA	129666110	TC	AA	129666109	3	1	181	1	0	0	0	0	1	0	0	0	17582	1783	62	5	863	5	ZC3HC1	7	129666109	Missense_Mutation	DNP	TC	TCGA-B0-5096-01A-01D-1421-08	13133015	129666109	29472554	49	10587											
ERICH1	157697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	623372	623372	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:623372T>A	ENST00000262109.7	-	4	1057	c.980A>T	c.(979-981)gAg>gTg	p.E327V	ERICH1_ENST00000522706.1_Missense_Mutation_p.E233V|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	327	Glu-rich.							p.E327V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		ATCATCTTCCTCGCTGGCGTC	0.498																																																1	Substitution - Missense(1)	kidney(1)											154	160	158					8																	623372		2203	4300	6503	SO:0001583	missense	157697				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.980A>T	8.37:g.623372T>A	ENSP00000262109:p.Glu327Val		A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	CCDS5955.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.24|11.24	1.581764|1.581764	0.28180|0.28180	.|.	.|.	ENSG00000104714|ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109|ENST00000522893	T;T|.	0.35605|.	1.3;1.33|.	4.18|4.18	3.01|3.01	0.34805|0.34805	.|.	0.606585|.	0.15774|.	N|.	0.245313|.	T|T	0.32615|0.32615	0.0835|0.0835	L|L	0.29908|0.29908	0.895|0.895	0.21473|0.21473	N|N	0.999673|0.999673	P;P;P|.	0.44429|.	0.835;0.835;0.835|.	P;P;P|.	0.53102|.	0.718;0.607;0.531|.	T|T	0.19095|0.19095	-1.0316|-1.0316	10|5	0.40728|.	T|.	0.16|.	-12.1972|-12.1972	8.2721|8.2721	0.31851|0.31851	0.0:0.0982:0.0:0.9018|0.0:0.0982:0.0:0.9018	.|.	327;327;233|.	B4DMI5;Q86X53;E5RHA3|.	.;ERIC1_HUMAN;.|.	V|W	327;233;327|96	ENSP00000428635:E233V;ENSP00000262109:E327V|.	ENSP00000262109:E327V|.	E|R	-|-	2|1	0|2	ERICH1|ERICH1	613372|613372	0.922000|0.922000	0.31269|0.31269	0.407000|0.407000	0.26434|0.26434	0.026000|0.026000	0.11368|0.11368	0.225000|0.225000	0.17757|0.17757	0.930000|0.930000	0.37217|0.37217	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.498	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		A	623372	T	A	623372	3	1	181	1	0	0	0	0	1	0	0	0	5232	1551	54	5	363	5	ERICH1	8	623372	Missense_Mutation	SNP	T	TCGA-B0-5096-01A-01D-1421-08		623372	145740650	50	10588											
LZTS1	11178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	20107281	20107281	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:20107281C>T	ENST00000381569.1	-	4	2100	c.1743G>A	c.(1741-1743)ctG>ctA	p.L581L	LZTS1_ENST00000265801.6_Silent_p.L581L|LZTS1_ENST00000522290.1_Silent_p.L522L			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	581					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L581L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CAGCCCCTTCCAGGTCAACCT	0.657																																																1	Substitution - coding silent(1)	kidney(1)											77	73	74					8																	20107281		2203	4300	6503	SO:0001819	synonymous_variant	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1743G>A	8.37:g.20107281C>T			D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	CCDS6015.1																																																																																				0.657	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		T	20107281	C	T	20107281	2	4	181	1	0	0	0	0	0	0	0	1	9140	581	21	2		2	LZTS1	8	20107281	Silent	SNP	C	TCGA-B0-5096-01A-01D-1421-08	19483909	20107281	126256741	51	10589											
CDCA2	157313	broad.mit.edu;hgsc.bcm.edu	37	8	25364407	25364407	+	Missense_Mutation	SNP	G	G	T	rs537909463		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:25364407G>T	ENST00000330560.3	+	15	2702	c.2225G>T	c.(2224-2226)gGt>gTt	p.G742V	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.G727V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	742					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G742V(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTTCTGCTGGTGGTCAAAAT	0.423																																																1	Substitution - Missense(1)	kidney(1)											40	41	41					8																	25364407		2203	4300	6503	SO:0001583	missense	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2225G>T	8.37:g.25364407G>T	ENSP00000328228:p.Gly742Val		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	1.134	-0.651461	0.03506	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.27890	1.64;1.64	4.78	0.485	0.16830	.	0.972253	0.08473	N	0.940683	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.009	T	0.27773	-1.0064	10	0.51188	T	0.08	-0.4165	5.903	0.18978	0.1391:0.2298:0.5436:0.0875	.	727;742	E9PEI0;Q69YH5	.;CDCA2_HUMAN	V	742;727;141	ENSP00000328228:G742V;ENSP00000370040:G727V	ENSP00000328228:G742V	G	+	2	0	CDCA2	25420324	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.301000	0.08232	-0.014000	0.14175	-0.829000	0.03081	GGT		0.423	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		T	25364407	G	T	25364407	3	4	181	1	0	0	0	0	1	0	0	0	3088	1261	44	4	2279	4	CDCA2	8	25364407	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	5257126	25364407	120999615	52	10590											
ASH2L	9070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	37967896	37967896	+	Splice_Site	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:37967896G>T	ENST00000343823.6	+	4	710		c.e4-1		ASH2L_ENST00000250635.7_Splice_Site|ASH2L_ENST00000428278.2_Splice_Site|ASH2L_ENST00000545394.1_Splice_Site|ASH2L_ENST00000521652.1_Splice_Site	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)						cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTCTTCGGCAGATCCTGTCTA	0.423																																																1	Unknown(1)	kidney(1)											138	117	124					8																	37967896		2203	4300	6503	SO:0001630	splice_region_variant	9070			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"Zinc fingers, PHD-type"	744	protein-coding gene	gene with protein product		604782	"ash2 (absent, small, or homeotic, Drosophila, homolog)-like"	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.402-1G>T	8.37:g.37967896G>T			A8K7C3|D3DSW9|O60659|O60660|Q96B62	Splice_Site	SNP	ENST00000343823.6	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303896	0.60305	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000517719;ENST00000428278;ENST00000521652	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6597	0.95861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASH2L	38087053	1.000000	0.71417	0.997000	0.53966	0.546000	0.35178	9.494000	0.97962	2.708000	0.92522	0.650000	0.86243	.		0.423	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674	Intron	T	37967896	G	T	37967896	5	4	181	1	0	0	0	0	0	0	1	0	1042	956	33	4	415	4	ASH2L	8	37967896	Splice_Site	SNP	G	TCGA-B0-5096-01A-01D-1421-08	12603489	37967896	108396126	53	10591											
ADAM32	203102	hgsc.bcm.edu;ucsc.edu	37	8	39103665	39103666	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:39103665_39103666insA	ENST00000379907.4	+	17	2009_2010	c.1882_1883insA	c.(1882-1884)caafs	p.Q628fs	ADAM32_ENST00000519315.1_Frame_Shift_Ins_p.Q522fs|ADAM32_ENST00000437682.2_Frame_Shift_Ins_p.Q529fs	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	628	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGTTTGTTCACAACAGTGTTCT	0.351																																																0																																										SO:0001589	frameshift_variant	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1884dupA	8.37:g.39103667_39103667dupA	ENSP00000369238:p.Gln628fs		Q8TC42	Frame_Shift_Ins	INS	ENST00000379907.4	37	CCDS47846.1																																																																																				0.351	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		A	39103666	-	A	39103665	7	5	181	1	0	1	1	0	0	0	0	0	249	479	17	0	1948	0	ADAM32	8	39103665	Frame_Shift_Ins	INS	-	TCGA-B0-5096-01A-01D-1421-08	1135769	39103665	107260357	54	10592											
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	77768068	77768068	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:77768068C>T	ENST00000521891.2	+	10	9359	c.8911C>T	c.(8911-8913)Cgc>Tgc	p.R2971C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2926C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2926C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2926					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R2955C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGCCCAAACGCGTAGTCCA	0.433										HNSCC(33;0.089)																																						1	Substitution - Missense(1)	kidney(1)											62	58	60					8																	77768068		1944	4141	6085	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8911C>T	8.37:g.77768068C>T	ENSP00000430497:p.Arg2971Cys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122163	0.56613	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.43416	U	0.000569	D	0.98611	0.9535	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	D	0.99478	1.0947	10	0.87932	D	0	.	18.8924	0.92410	0.0:1.0:0.0:0.0	.	2926;2926;2971	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2971;2955;2926;2926;2945	ENSP00000430497:R2971C;ENSP00000399605:R2926C;ENSP00000050961:R2926C;ENSP00000430848:R2945C	ENSP00000050961:R2926C	R	+	1	0	ZFHX4	77930623	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.780000	0.68956	2.696000	0.92011	0.655000	0.94253	CGC		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		T	77768068	C	T	77768068	3	4	181	1	0	0	0	0	1	0	0	0	17640	536	19	1	8945	1	ZFHX4	8	77768068	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	38664403	77768068	68595954	55	10593											
ZHX2	22882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	123963970	123963970	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr8:123963970C>G	ENST00000314393.4	+	3	1055	c.220C>G	c.(220-222)Ctc>Gtc	p.L74V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	74					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L74V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTCCAAAAAACTCCAAGGTGG	0.478																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)											1	Substitution - Missense(1)	kidney(1)											74	70	71					8																	123963970		2203	4300	6503	SO:0001583	missense	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.220C>G	8.37:g.123963970C>G	ENSP00000314709:p.Leu74Val			Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	1.328	-0.597602	0.03771	.	.	ENSG00000178764	ENST00000314393	T	0.52295	0.67	5.56	5.56	0.83823	.	0.211942	0.41938	D	0.000795	T	0.26846	0.0657	L	0.28274	0.84	0.32971	D	0.522358	P	0.42827	0.791	B	0.32677	0.15	T	0.35201	-0.9798	10	0.02654	T	1	-19.0498	13.7817	0.63087	0.0:0.9267:0.0:0.0733	.	74	Q9Y6X8	ZHX2_HUMAN	V	74	ENSP00000314709:L74V	ENSP00000314709:L74V	L	+	1	0	ZHX2	124033151	0.694000	0.27738	0.998000	0.56505	0.961000	0.63080	4.326000	0.59241	2.637000	0.89404	0.455000	0.32223	CTC		0.478	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		G	123963970	C	G	123963970	3	3	181	1	0	0	0	0	1	0	0	0	17681	565	20	4	222	4	ZHX2	8	123963970	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	46195902	123963970	22400052	56	10594											
TAF3	83860	broad.mit.edu	37	10	8051125	8051125	+	Silent	SNP	G	G	T	rs372196685		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr10:8051125G>T	ENST00000344293.5	+	5	2606	c.2400G>T	c.(2398-2400)gcG>gcT	p.A800A		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	800	Pro-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.A800A(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						cggcccccgcgcccgcccccg	0.761																																																1	Substitution - coding silent(1)	kidney(1)											8	12	11					10																	8051125		1189	2881	4070	SO:0001819	synonymous_variant	83860			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2400G>T	10.37:g.8051125G>T			Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	CCDS41487.1																																																																																				0.761	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		T	8051125	G	T	8051125	2	4	181	1	0	0	0	0	0	0	0	1	15530	1074	38	4		4	TAF3	10	8051125	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08		8051125	127483622	57	10595											
MUC6	4588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1016334	1016334	+	Missense_Mutation	SNP	G	G	C	rs368561583		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr11:1016334G>C	ENST00000421673.2	-	31	6517	c.6467C>G	c.(6466-6468)tCg>tGg	p.S2156W		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2156	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.S2156W(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AACAGAAGGCGATGAAGTCTG	0.552																																																2	Substitution - Missense(2)	kidney(2)											54	57	56					11																	1016334		2065	4196	6261	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6467C>G	11.37:g.1016334G>C	ENSP00000406861:p.Ser2156Trp		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098607	0.37048	.	.	ENSG00000184956	ENST00000421673	T	0.24151	1.87	2.86	0.804	0.18697	.	.	.	.	.	T	0.26085	0.0636	N	0.22421	0.69	0.09310	N	1	D	0.59357	0.985	P	0.58721	0.844	T	0.11372	-1.0590	9	0.66056	D	0.02	.	4.4719	0.11717	0.1451:0.2319:0.623:0.0	.	2156	Q6W4X9	MUC6_HUMAN	W	2156	ENSP00000406861:S2156W	ENSP00000406861:S2156W	S	-	2	0	MUC6	1006334	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	0.325000	0.19628	0.049000	0.15920	0.297000	0.19635	TCG		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		C	1016334	G	C	1016334	3	2	181	1	0	0	0	0	1	0	0	0	9982	1059	37	4	864	4	MUC6	11	1016334	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08		1016334	133990182	58	10596											
MPPED2	744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	30557623	30557623	+	Silent	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr11:30557623A>T	ENST00000358117.5	-	2	350	c.228T>A	c.(226-228)ccT>ccA	p.P76P	MPPED2_ENST00000448418.2_Silent_p.P76P	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	76					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.P76P(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TGTCCCCATAAGGCATCTGGA	0.517																																																2	Substitution - coding silent(2)	kidney(2)											118	114	115					11																	30557623		2202	4299	6501	SO:0001819	synonymous_variant	744			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"chromosome 11 open reading frame 8"	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.228T>A	11.37:g.30557623A>T			D3DQZ5|E9PB10|Q59GE6	Silent	SNP	ENST00000358117.5	37	CCDS7870.1																																																																																				0.517	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		T	30557623	A	T	30557623	2	4	181	1	0	0	0	0	0	0	0	1	9744	59	3	5		5	MPPED2	11	30557623	Silent	SNP	A	TCGA-B0-5096-01A-01D-1421-08	29541289	30557623	104448893	59	10597											
CCDC86	79080	hgsc.bcm.edu	37	11	60610042	60610043	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr11:60610042_60610043insC	ENST00000227520.5	+	1	499_500	c.445_446insC	c.(445-447)gccfs	p.A149fs	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	149	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GACCCCGGGGGCCCCCCAGCAT	0.634																																																0																																										SO:0001589	frameshift_variant	79080			AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.451dupC	11.37:g.60610048_60610048dupC	ENSP00000227520:p.Ala149fs		B4DY99	Frame_Shift_Ins	INS	ENST00000227520.5	37	CCDS7993.1																																																																																				0.634	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		C	60610043	-	C	60610042	7	5	181	1	0	1	1	0	0	0	0	0	2863	1203	42	0	447	0	CCDC86	11	60610042	Frame_Shift_Ins	INS	-	TCGA-B0-5096-01A-01D-1421-08	30052419	60610042	74396474	60	10598											
CPSF7	79869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61188976	61188976	+	Silent	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr11:61188976A>C	ENST00000394888.4	-	3	331	c.159T>G	c.(157-159)ccT>ccG	p.P53P	CPSF7_ENST00000448745.1_Silent_p.P53P|CPSF7_ENST00000340437.4_Silent_p.P96P|CPSF7_ENST00000439958.3_Silent_p.P53P|CPSF7_ENST00000541963.1_Silent_p.P53P	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	53	Poly-Pro.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P53P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCGAACAGGAGGAGGTGGTT	0.517																																																1	Substitution - coding silent(1)	kidney(1)											221	190	201					11																	61188976		2202	4299	6501	SO:0001819	synonymous_variant	79869				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.159T>G	11.37:g.61188976A>C			B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Silent	SNP	ENST00000394888.4	37	CCDS44619.1																																																																																				0.517	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		C	61188976	A	C	61188976	2	2	181	1	0	0	0	0	0	0	0	1	3832	291	11	5		5	CPSF7	11	61188976	Silent	SNP	A	TCGA-B0-5096-01A-01D-1421-08	578934	61188976	73817540	61	10599											
NAALAD2	10003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	89907078	89907078	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr11:89907078G>T	ENST00000534061.1	+	14	1727	c.1497G>T	c.(1495-1497)ttG>ttT	p.L499F	NAALAD2_ENST00000321955.4_Missense_Mutation_p.L466F|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	499	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.L499F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATAAAAATTTGCCTAGGTAAG	0.403																																																1	Substitution - Missense(1)	kidney(1)											95	98	97					11																	89907078		2201	4299	6500	SO:0001583	missense	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1497G>T	11.37:g.89907078G>T	ENSP00000432481:p.Leu499Phe		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	2.225	-0.377371	0.05000	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.40756	1.02;1.02	5.95	-3.52	0.04682	Peptidase M28 (1);	1.406220	0.03997	N	0.295764	T	0.32285	0.0824	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.15809	-1.0424	9	.	.	.	0.8432	7.5334	0.27695	0.0:0.3136:0.3462:0.3402	.	499	Q9Y3Q0	NALD2_HUMAN	F	499;466	ENSP00000432481:L499F;ENSP00000320083:L466F	.	L	+	3	2	NAALAD2	89546726	0.000000	0.05858	0.023000	0.16930	0.698000	0.40448	-0.939000	0.03933	-0.545000	0.06224	-0.262000	0.10625	TTG		0.403	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		T	89907078	G	T	89907078	3	4	181	1	0	0	0	0	1	0	0	0	10130	1310	46	4	1551	4	NAALAD2	11	89907078	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	28718102	89907078	45099438	62	10600											
OSBPL8	114882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	76786494	76786494	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr12:76786494A>G	ENST00000261183.3	-	10	1275	c.796T>C	c.(796-798)Tgt>Cgt	p.C266R	OSBPL8_ENST00000393250.4_Missense_Mutation_p.C224R|OSBPL8_ENST00000393249.2_Missense_Mutation_p.C224R	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	266					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.C266R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AGACTAGAACATTTCAAAGCC	0.378																																																1	Substitution - Missense(1)	kidney(1)											184	152	163					12																	76786494		2203	4300	6503	SO:0001583	missense	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.796T>C	12.37:g.76786494A>G	ENSP00000261183:p.Cys266Arg		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425602	0.83667	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.54675	1.07;0.99;1.07;0.56;0.57	5.63	5.63	0.86233	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.77557	0.99;0.954	T	0.72584	-0.4249	10	0.54805	T	0.06	-12.0111	16.1307	0.81436	1.0:0.0:0.0:0.0	.	241;266	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	R	224;266;251;224;266;266;241	ENSP00000376939:C224R;ENSP00000261183:C266R;ENSP00000376940:C224R;ENSP00000450238:C266R;ENSP00000447893:C241R	ENSP00000261183:C266R	C	-	1	0	OSBPL8	75310625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.263000	0.75096	0.533000	0.62120	TGT		0.378	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		G	76786494	A	G	76786494	3	3	181	1	0	0	0	0	1	0	0	0	11285	217	8	3	1933	3	OSBPL8	12	76786494	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08		76786494	57065401	63	10601											
CEP290	80184	hgsc.bcm.edu;ucsc.edu	37	12	88482866	88482866	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr12:88482866delT	ENST00000552810.1	-	31	4315	c.3972delA	c.(3970-3972)aaafs	p.K1324fs	CEP290_ENST00000397838.3_Frame_Shift_Del_p.K384fs|CEP290_ENST00000309041.7_Frame_Shift_Del_p.K1326fs|CEP290_ENST00000547691.2_Frame_Shift_Del_p.K384fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1324					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GGCCCTTTAATTTTAATTCCA	0.294																																																0													78	72	74					12																	88482866		1795	4062	5857	SO:0001589	frameshift_variant	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3972delA	12.37:g.88482866delT	ENSP00000448012:p.Lys1324fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	ENST00000552810.1	37	CCDS55858.1																																																																																				0.294	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		-	88482866	T	-	88482866	7	5	181	1	0	1	0	1	0	0	0	0	3255	1490	52	0	3563	0	CEP290	12	88482866	Frame_Shift_Del	DEL	T	TCGA-B0-5096-01A-01D-1421-08	11696372	88482866	45369029	64	10602											
BDKRB1	623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	96730316	96730316	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr14:96730316C>G	ENST00000216629.6	+	3	903	c.297C>G	c.(295-297)aaC>aaG	p.N99K	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.N99K	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	99					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)	p.N99K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ATATCTGGAACCAGTTTAACT	0.552																																																1	Substitution - Missense(1)	kidney(1)											79	79	79					14																	96730316		2203	4300	6503	SO:0001583	missense	623			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.297C>G	14.37:g.96730316C>G	ENSP00000216629:p.Asn99Lys		A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547442	0.27652	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.71817	-0.6;-0.6	5.21	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.121285	0.53938	U	0.000059	T	0.67078	0.2855	L	0.48218	1.51	0.09310	N	0.999999	P;P	0.50272	0.933;0.859	P;P	0.53518	0.728;0.725	T	0.54556	-0.8276	10	0.30078	T	0.28	-15.5646	5.2515	0.15524	0.0:0.4161:0.4328:0.1511	.	99;99	G3V4Y2;P46663	.;BKRB1_HUMAN	K	99	ENSP00000216629:N99K;ENSP00000452064:N99K	ENSP00000216629:N99K	N	+	3	2	BDKRB1	95800069	0.000000	0.05858	0.045000	0.18777	0.033000	0.12548	-0.234000	0.09028	1.210000	0.43336	0.305000	0.20034	AAC		0.552	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			G	96730316	C	G	96730316	3	3	181	1	0	0	0	0	1	0	0	0	1392	506	18	4	299	4	BDKRB1	14	96730316	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08		96730316	10619224	65	10603											
ARHGAP11B	89839	broad.mit.edu;hgsc.bcm.edu	37	15	30919056	30919056	+	Silent	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:30919056G>T	ENST00000428041.2	+	1	178	c.33G>T	c.(31-33)ctG>ctT	p.L11L	RP11-932O9.7_ENST00000501830.2_RNA	NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	11					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L11L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		AGTTGGCCCTGTTGCAGCATC	0.552																																																1	Substitution - coding silent(1)	kidney(1)											83	77	79					15																	30919056		2202	4300	6502	SO:0001819	synonymous_variant	89839			BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"Rho GTPase activating proteins"	15782	protein-coding gene	gene with protein product	"GAP (1-8)"		"family with sequence similarity 7, member B1"	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.33G>T	15.37:g.30919056G>T				Silent	SNP	ENST00000428041.2	37	CCDS32185.1																																																																																				0.552	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	NM_001039841		T	30919056	G	T	30919056	2	4	181	1	0	0	0	0	0	0	0	1	864	1364	48	4		4	ARHGAP11B	15	30919056	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08		30919056	71612336	66	10604											
PLA2G4D	283748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42363506	42363506	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:42363506G>A	ENST00000290472.3	-	17	1785	c.1691C>T	c.(1690-1692)cCc>cTc	p.P564L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	564	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.P564L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTGGTCAGGGGCTCCTTCTC	0.607																																																1	Substitution - Missense(1)	kidney(1)											30	36	34					15																	42363506		2201	4299	6500	SO:0001583	missense	283748			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1691C>T	15.37:g.42363506G>A	ENSP00000290472:p.Pro564Leu		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	G	9.316	1.056878	0.19907	.	.	ENSG00000159337	ENST00000290472	T	0.04706	3.57	5.23	4.3	0.51218	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.486688	0.19178	N	0.120778	T	0.04907	0.0132	L	0.45581	1.43	0.09310	N	1	B	0.20780	0.048	B	0.19391	0.025	T	0.42241	-0.9463	10	0.07325	T	0.83	-1.7271	10.2875	0.43575	0.0929:0.0:0.9071:0.0	.	564	Q86XP0	PA24D_HUMAN	L	564	ENSP00000290472:P564L	ENSP00000290472:P564L	P	-	2	0	PLA2G4D	40150798	0.004000	0.15560	0.004000	0.12327	0.270000	0.26580	1.145000	0.31577	1.194000	0.43101	0.650000	0.86243	CCC		0.607	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		A	42363506	G	A	42363506	3	1	181	1	0	0	0	0	1	0	0	0	12006	1232	43	2	781	2	PLA2G4D	15	42363506	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	11444450	42363506	60167886	67	10605											
TP53BP1	7158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43748161	43748161	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:43748161G>C	ENST00000263801.3	-	12	2882	c.2630C>G	c.(2629-2631)tCa>tGa	p.S877*	TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.S882*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.S882*|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.S882*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	877					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.S877*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTCTGCATCTGAGCTTAGCTG	0.453								Other conserved DNA damage response genes																																								1	Substitution - Nonsense(1)	kidney(1)											109	109	109					15																	43748161		2201	4298	6499	SO:0001587	stop_gained	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2630C>G	15.37:g.43748161G>C	ENSP00000263801:p.Ser877*		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	40	8.105796	0.98657	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546;ENST00000414758	.	.	.	5.23	4.25	0.50352	.	1.005250	0.08011	N	0.990314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.3034	10.7224	0.46048	0.0:0.2474:0.7526:0.0	.	.	.	.	X	877;882;882;882;882;21	.	ENSP00000263801:S877X	S	-	2	0	TP53BP1	41535453	0.015000	0.18098	0.045000	0.18777	0.764000	0.43329	2.110000	0.41873	2.582000	0.87167	0.650000	0.86243	TCA		0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			C	43748161	G	C	43748161	4	2	181	1	0	0	0	0	0	1	0	0	16388	1294	45	4	3356	4	TP53BP1	15	43748161	Nonsense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	1384655	43748161	58783231	68	10606											
TCF12	6938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	57565320	57565320	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:57565320G>A	ENST00000267811.5	+	18	2070	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	TCF12_ENST00000543579.1_Missense_Mutation_p.R443H|TCF12_ENST00000559710.1_Missense_Mutation_p.R223H|TCF12_ENST00000343827.3_Missense_Mutation_p.R419H|TCF12_ENST00000333725.5_Missense_Mutation_p.R613H|TCF12_ENST00000438423.2_Missense_Mutation_p.R613H|TCF12_ENST00000537840.1_Missense_Mutation_p.R353H|TCF12_ENST00000559703.1_Missense_Mutation_p.R246H|TCF12_ENST00000452095.2_Missense_Mutation_p.R609H|TCF12_ENST00000557843.1_Missense_Mutation_p.R589H	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	589	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R613H(2)|p.R609H(2)|p.R419H(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GAACGCTTACGCGTGCGGGAT	0.428			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	5	Substitution - Missense(5)	kidney(4)|large_intestine(1)											96	103	101					15																	57565320		2192	4292	6484	SO:0001583	missense	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1766G>A	15.37:g.57565320G>A	ENSP00000267811:p.Arg589His		Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390505	0.95988	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	D;D;D;D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53	4.72	4.72	0.59763	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.994;0.999;1.0;0.989;0.999;0.997;0.994;0.995;0.991	D	0.96981	0.9715	10	0.87932	D	0	-14.1354	18.0262	0.89270	0.0:0.0:1.0:0.0	.	609;223;443;353;609;641;443;419;589;613	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	H	641;589;613;609;613;443;353;419;201	ENSP00000267811:R589H;ENSP00000388940:R613H;ENSP00000396881:R609H;ENSP00000331057:R613H;ENSP00000440017:R443H;ENSP00000444696:R353H;ENSP00000342459:R419H	ENSP00000267811:R589H	R	+	2	0	TCF12	55352612	1.000000	0.71417	0.992000	0.48379	0.951000	0.60555	9.683000	0.98657	2.329000	0.79093	0.655000	0.94253	CGC		0.428	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		A	57565320	G	A	57565320	3	1	181	1	0	0	0	0	1	0	0	0	15692	1087	38	1	1981	1	TCF12	15	57565320	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	13817159	57565320	44966072	69	10607											
CGNL1	84952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	57836715	57836715	+	Nonsense_Mutation	SNP	C	C	G	rs137878510	byFrequency	TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:57836715C>G	ENST00000281282.5	+	16	3498	c.3420C>G	c.(3418-3420)taC>taG	p.Y1140*		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1140						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.Y1140*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAGGTTCCTACAGGTCCAGCA	0.592																																																1	Substitution - Nonsense(1)	kidney(1)											57	49	51					15																	57836715		2192	4292	6484	SO:0001587	stop_gained	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3420C>G	15.37:g.57836715C>G	ENSP00000281282:p.Tyr1140*		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Nonsense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	41	8.977988	0.99023	.	.	ENSG00000128849	ENST00000281282	.	.	.	5.82	3.59	0.41128	.	0.133856	0.34531	N	0.003900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6237	13.8466	0.63470	0.0:0.8543:0.0:0.1457	.	.	.	.	X	1140	.	ENSP00000281282:Y1140X	Y	+	3	2	CGNL1	55624007	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.825000	0.27393	1.443000	0.47586	0.563000	0.77884	TAC		0.592	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		G	57836715	C	G	57836715	4	3	181	1	0	0	0	0	0	1	0	0	3306	489	17	4	3478	4	CGNL1	15	57836715	Nonsense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	271395	57836715	44694677	70	10608											
HERC1	8925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63970224	63970224	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr15:63970224C>A	ENST00000443617.2	-	37	6977	c.6890G>T	c.(6889-6891)aGg>aTg	p.R2297M	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2297					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R2297M(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCAAAGAGTCCTCAGCTGCAG	0.522																																																2	Substitution - Missense(2)	kidney(2)											136	144	141					15																	63970224		2098	4216	6314	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6890G>T	15.37:g.63970224C>A	ENSP00000390158:p.Arg2297Met		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461797	0.43736	.	.	ENSG00000103657	ENST00000443617	T	0.25250	1.81	5.6	4.58	0.56647	.	0.197532	0.42548	D	0.000685	T	0.22666	0.0547	L	0.44542	1.39	0.42647	D	0.993435	B	0.27732	0.187	B	0.33890	0.172	T	0.09122	-1.0689	10	0.62326	D	0.03	.	6.7152	0.23300	0.0:0.7965:0.0:0.2035	.	2297	Q15751	HERC1_HUMAN	M	2297	ENSP00000390158:R2297M	ENSP00000390158:R2297M	R	-	2	0	HERC1	61757277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.568000	0.36418	2.635000	0.89317	0.655000	0.94253	AGG		0.522	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		A	63970224	C	A	63970224	3	1	181	1	0	0	0	0	1	0	0	0	7059	681	24	4	7863	4	HERC1	15	63970224	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	6133509	63970224	38561168	71	10609											
HN1L	90861	broad.mit.edu;hgsc.bcm.edu	37	16	1748907	1748907	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr16:1748907G>A	ENST00000248098.3	+	5	538	c.481G>A	c.(481-483)Gac>Aac	p.D161N	HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.D149N|HN1L_ENST00000382711.5_Missense_Mutation_p.D145N|HN1L_ENST00000562684.1_Missense_Mutation_p.D189N	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	161						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D161N(1)		endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GCCCACAGTCGACAGCCATGA	0.637																																																1	Substitution - Missense(1)	kidney(1)											54	65	62					16																	1748907		2199	4300	6499	SO:0001583	missense	90861			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 34"	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.481G>A	16.37:g.1748907G>A	ENSP00000248098:p.Asp161Asn		B1AJY2|Q6EIC7	Missense_Mutation	SNP	ENST00000248098.3	37	CCDS10441.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659888	0.47572	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000382710	T;T	0.54279	0.58;0.58	6.17	5.22	0.72569	.	0.141811	0.64402	N	0.000004	T	0.70245	0.3202	M	0.74258	2.255	0.40577	D	0.981356	P;D;P	0.89917	0.58;1.0;0.58	B;D;B	0.87578	0.126;0.998;0.126	T	0.70219	-0.4932	10	0.27785	T	0.31	-41.4279	13.7528	0.62917	0.0714:0.0:0.9286:0.0	.	149;189;161	A6NGP5;B4DLH4;Q9H910	.;.;HN1L_HUMAN	N	161;189;149	ENSP00000248098:D161N;ENSP00000372157:D149N	ENSP00000248098:D161N	D	+	1	0	HN1L	1688908	1.000000	0.71417	0.914000	0.36105	0.073000	0.16967	7.762000	0.85270	1.626000	0.50381	0.655000	0.94253	GAC		0.637	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2	NM_144570		A	1748907	G	A	1748907	3	1	181	1	0	0	0	0	1	0	0	0	7252	1058	37	1	499	1	HN1L	16	1748907	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08		1748907	88605846	72	10610											
CCNF	899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2506613	2506613	+	Silent	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr16:2506613G>A	ENST00000397066.4	+	17	2041	c.1953G>A	c.(1951-1953)caG>caA	p.Q651Q	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	651	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)		p.Q651Q(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ATTGCTGCCAGGAATCCAGTG	0.602																																																2	Substitution - coding silent(2)	kidney(2)											63	59	61					16																	2506613		2198	4300	6498	SO:0001819	synonymous_variant	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1953G>A	16.37:g.2506613G>A			B2R8H3|Q96EG9	Silent	SNP	ENST00000397066.4	37	CCDS10467.1																																																																																				0.602	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		A	2506613	G	A	2506613	2	1	181	1	0	0	0	0	0	0	0	1	2924	991	35	2		2	CCNF	16	2506613	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08	757706	2506613	87848140	73	10611											
NLRC3	197358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3614126	3614127	+	RNA	DNP	GC	GC	AT			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr16:3614126_3614127GC>AT	ENST00000301749.7	-	0	1216_1217				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.A318I(1)|p.A318T(1)|p.A318V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGGCCAGATGCACTGGGACGG	0.584																																																3	Substitution - Missense(3)	kidney(3)																																										197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561	ENST00000301749.7:c.811_812delinsAT	16.37:g.3614126_3614127delinsAT			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37																																																																																					0.584	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		AT	3614127	GC	AT	3614126	1	1	181	0	1	0	0	0	0	0	0	0	10470	1319	46	2		2	NLRC3	16	3614126	RNA	DNP	GC	TCGA-B0-5096-01A-01D-1421-08	1107513	3614126	86740627	74	10612											
BBS2	583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	56535341	56535341	+	Silent	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr16:56535341G>A	ENST00000245157.5	-	10	1569	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	BBS2_ENST00000568104.1_Silent_p.L383L|BBS2_ENST00000561951.1_5'Flank	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	383					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.L383L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GCGTGGTGTGGAGCCTGGTAT	0.517									Bardet-Biedl syndrome																																							1	Substitution - coding silent(1)	kidney(1)											219	194	202					16																	56535341		2198	4300	6498	SO:0001819	synonymous_variant	583	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1149C>T	16.37:g.56535341G>A			Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	CCDS32451.1																																																																																				0.517	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		A	56535341	G	A	56535341	2	1	181	1	0	0	0	0	0	0	0	1	1338	1161	41	2		2	BBS2	16	56535341	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08	52921215	56535341	33819412	75	10613											
GOT2	2806	broad.mit.edu;hgsc.bcm.edu	37	16	58757714	58757714	+	Missense_Mutation	SNP	T	T	C	rs199949591		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr16:58757714T>C	ENST00000245206.5	-	2	310	c.182A>G	c.(181-183)aAt>aGt	p.N61S	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.N61S	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	61					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.N61S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	AACTCCCAGATTCATCTTTTT	0.498													T|||	1	0.000199681	0.0	0.0	5008	,	,		20256	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						T	SER/ASN	1,4395	2.1+/-5.4	0,1,2197	191	188	189		182	5.5	1	16		189	0,8600		0,0,4300	no	missense	GOT2	NM_002080.2	46	0,1,6497	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	61/431	58757714	1,12995	2198	4300	6498	SO:0001583	missense	2806				CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.182A>G	16.37:g.58757714T>C	ENSP00000245206:p.Asn61Ser		B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	CCDS10801.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	25.3	4.627028	0.87560	2.27E-4	0.0	ENSG00000125166	ENST00000245206;ENST00000434819;ENST00000425685	T;T	0.24350	1.86;1.86	5.46	5.46	0.80206	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.86740	2.835	0.80722	D	1	D;D	0.61080	0.989;0.978	P;P	0.58013	0.831;0.7	T	0.59511	-0.7441	9	.	.	.	-20.1802	14.7149	0.69259	0.0:0.0:0.0:1.0	.	61;61	E7ERW2;P00505	.;AATM_HUMAN	S	61	ENSP00000245206:N61S;ENSP00000394100:N61S	.	N	-	2	0	GOT2	57315215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.797000	0.85911	2.082000	0.62665	0.533000	0.62120	AAT		0.498	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			C	58757714	T	C	58757714	3	2	181	1	0	0	0	0	1	0	0	0	6583	1493	52	3	1146	3	GOT2	16	58757714	Missense_Mutation	SNP	T	TCGA-B0-5096-01A-01D-1421-08	2222373	58757714	31597039	76	10614											
CDC27	996	broad.mit.edu;hgsc.bcm.edu	37	17	45219300	45219300	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr17:45219300A>T	ENST00000066544.3	-	12	1563	c.1470T>A	c.(1468-1470)caT>caA	p.H490Q	CDC27_ENST00000446365.2_Missense_Mutation_p.H429Q|CDC27_ENST00000527547.1_Missense_Mutation_p.H489Q|CDC27_ENST00000531206.1_Missense_Mutation_p.H496Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	490					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.H490Q(1)|p.H496Q(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GAGAAGGTAGATGGCTCAAAA	0.383																																																2	Substitution - Missense(2)	kidney(2)											114	119	117					17																	45219300		2203	4299	6502	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1470T>A	17.37:g.45219300A>T	ENSP00000066544:p.His490Gln		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	9.221	1.033288	0.19590	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.92	1.67	0.24075	Tetratricopeptide-like helical (1);	0.146716	0.64402	D	0.000007	T	0.29652	0.0740	N	0.00321	-1.65	0.45025	D	0.998045	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.003;0.001	T	0.04103	-1.0977	10	0.14252	T	0.57	-10.9647	8.2557	0.31756	0.4036:0.0:0.5963:0.0	.	429;489;496;490	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	Q	490;496;429;489	ENSP00000066544:H490Q;ENSP00000434614:H496Q;ENSP00000392802:H429Q;ENSP00000437339:H489Q	ENSP00000066544:H490Q	H	-	3	2	CDC27	42574299	0.997000	0.39634	0.999000	0.59377	0.984000	0.73092	0.527000	0.22987	0.103000	0.17682	-0.248000	0.11899	CAT		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			T	45219300	A	T	45219300	3	4	181	1	0	0	0	0	1	0	0	0	3068	330	12	5	1036	5	CDC27	17	45219300	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08		45219300	35975910	77	10615											
DLX4	1748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48050513	48050513	+	Silent	SNP	G	G	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr17:48050513G>C	ENST00000240306.3	+	2	655	c.360G>C	c.(358-360)ccG>ccC	p.P120P	DLX4_ENST00000411890.2_Silent_p.P48P|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	120					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P120P(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						TCCGCAAGCCGAGGACCATCT	0.677																																																1	Substitution - coding silent(1)	kidney(1)											32	36	34					17																	48050513		2201	4300	6501	SO:0001819	synonymous_variant	1748				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.360G>C	17.37:g.48050513G>C			D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Silent	SNP	ENST00000240306.3	37	CCDS11555.1																																																																																				0.677	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			C	48050513	G	C	48050513	2	2	181	1	0	0	0	0	0	0	0	1	4575	1045	37	4		4	DLX4	17	48050513	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08	2831213	48050513	33144697	78	10616											
FN3K	64122	hgsc.bcm.edu;ucsc.edu	37	17	80706807	80706808	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr17:80706807_80706808insG	ENST00000300784.7	+	5	607_608	c.545_546insG	c.(544-549)aaggacfs	p.D183fs		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	183					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTCATTGAGAAGGACTATGCTG	0.604																																					Melanoma(10;391 597 14592 32548 32749)											0																																										SO:0001589	frameshift_variant	64122			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.547dupG	17.37:g.80706809_80706809dupG	ENSP00000300784:p.Asp183fs			Frame_Shift_Ins	INS	ENST00000300784.7	37	CCDS11818.1																																																																																				0.604	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1	NM_022158		G	80706808	-	G	80706807	7	5	181	1	0	1	1	0	0	0	0	0	5965	72	3	0	563	0	FN3K	17	80706807	Frame_Shift_Ins	INS	-	TCGA-B0-5096-01A-01D-1421-08	32656294	80706807	488403	79	10617											
CELF4	56853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	34855139	34855139	+	Silent	SNP	G	G	A	rs376508818		TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr18:34855139G>A	ENST00000591282.1	-	4	515	c.516C>T	c.(514-516)ttC>ttT	p.F172F	CELF4_ENST00000420428.2_Silent_p.F172F|CELF4_ENST00000591287.1_Silent_p.F171F|CELF4_ENST00000334919.5_Silent_p.F162F|CELF4_ENST00000603232.1_Silent_p.F172F|CELF4_ENST00000412753.1_Silent_p.F172F|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000601019.1_Silent_p.F171F|CELF4_ENST00000588597.1_Silent_p.F161F|CELF4_ENST00000361795.5_Silent_p.F171F|RP11-797E24.3_ENST00000586610.1_RNA			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	172	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.F172F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CAAAGGCCTCGAAAAGGCGGC	0.622																																																1	Substitution - coding silent(1)	kidney(1)											71	73	73					18																	34855139		2203	4300	6503	SO:0001819	synonymous_variant	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.516C>T	18.37:g.34855139G>A			Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	CCDS32818.1																																																																																				0.622	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		A	34855139	G	A	34855139	2	1	181	1	0	0	0	0	0	0	0	1	3220	1049	37	1		1	CELF4	18	34855139	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08		34855139	43222109	80	10618											
CCBE1	147372	hgsc.bcm.edu;ucsc.edu	37	18	57147435	57147435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr18:57147435delC	ENST00000439986.4	-	3	285	c.248delG	c.(247-249)ggafs	p.G83fs	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	83					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GATGCATTGTCCAAGAACAAA	0.274																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)											0													49	52	51					18																	57147435		2202	4291	6493	SO:0001589	frameshift_variant	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.248delG	18.37:g.57147435delC	ENSP00000404464:p.Gly83fs		Q6MZX5|Q86SS2|Q8TF19	Frame_Shift_Del	DEL	ENST00000439986.4	37	CCDS32838.1																																																																																				0.274	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		-	57147435	C	-	57147435	7	5	181	1	0	1	0	1	0	0	0	0	2733	855	30	0	1008	0	CCBE1	18	57147435	Frame_Shift_Del	DEL	C	TCGA-B0-5096-01A-01D-1421-08	22292296	57147435	20929813	81	10619											
GAMT	2593	broad.mit.edu;hgsc.bcm.edu	37	19	1398924	1398924	+	Silent	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr19:1398924G>A	ENST00000252288.2	-	5	627	c.561C>T	c.(559-561)atC>atT	p.I187I	GAMT_ENST00000447102.3_Silent_p.I187I|AC005329.7_ENST00000501448.1_RNA	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	187	RMT2. {ECO:0000255|PROSITE- ProRule:PRU00892}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)	p.I187I(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	CCTCAAACATGATGGTGATGT	0.612																																					Colon(167;1531 1939 13427 28842 31956)											2	Substitution - coding silent(2)	kidney(2)											78	58	65					19																	1398924		2203	4300	6503	SO:0001819	synonymous_variant	2593			Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.561C>T	19.37:g.1398924G>A			A8K0A0|Q53Y34|Q8WVJ1	Silent	SNP	ENST00000252288.2	37	CCDS12064.1																																																																																				0.612	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449739.1	NM_138924		A	1398924	G	A	1398924	2	1	181	1	0	0	0	0	0	0	0	1	6233	1280	45	2		2	GAMT	19	1398924	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08		1398924	57730059	82	10620											
EMR1	2015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6896425	6896425	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr19:6896425C>T	ENST00000312053.4	+	3	148	c.111C>T	c.(109-111)gaC>gaT	p.D37D	AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000381407.5_Silent_p.D37D|EMR1_ENST00000450315.3_Silent_p.D37D|EMR1_ENST00000250572.8_Silent_p.D37D|EMR1_ENST00000381404.4_Silent_p.D37D|EMR1_ENST00000601198.1_3'UTR	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	37	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D37D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACTGTAGAGACAGTACCTTGT	0.463																																																1	Substitution - coding silent(1)	kidney(1)											185	166	173					19																	6896425		2203	4300	6503	SO:0001819	synonymous_variant	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.111C>T	19.37:g.6896425C>T			A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	CCDS12175.1																																																																																				0.463	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			T	6896425	C	T	6896425	2	4	181	1	0	0	0	0	0	0	0	1	5106	477	17	2		2	EMR1	19	6896425	Silent	SNP	C	TCGA-B0-5096-01A-01D-1421-08	5497501	6896425	52232558	83	10621											
SIGLEC8	27181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51961243	51961243	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr19:51961243C>G	ENST00000321424.3	-	1	465	c.399G>C	c.(397-399)tgG>tgC	p.W133C	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.W133C|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W133C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	133					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.W133C(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATTTGTAACTCCATTTCATGC	0.502																																																1	Substitution - Missense(1)	kidney(1)											122	123	122					19																	51961243		2203	4300	6503	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.399G>C	19.37:g.51961243C>G	ENSP00000321077:p.Trp133Cys		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	9.854	1.194411	0.22037	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.46063	0.88;0.88;1.96	2.56	-5.13	0.02884	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.059810	0.02660	U	0.107373	T	0.61400	0.2344	M	0.82923	2.615	0.09310	N	1	D;D;D	0.76494	0.992;0.999;0.999	P;P;D	0.66084	0.479;0.906;0.941	T	0.63607	-0.6599	10	0.72032	D	0.01	.	6.2222	0.20687	0.1992:0.5412:0.2596:0.0	.	133;133;133	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	C	133	ENSP00000389142:W133C;ENSP00000321077:W133C;ENSP00000339448:W133C	ENSP00000321077:W133C	W	-	3	0	SIGLEC8	56653055	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.492000	0.22435	-1.417000	0.02017	0.398000	0.26397	TGG		0.502	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		G	51961243	C	G	51961243	3	3	181	1	0	0	0	0	1	0	0	0	14320	856	30	4	1128	4	SIGLEC8	19	51961243	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08	45064818	51961243	7167740	84	10622											
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57327461	57327461	+	Silent	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr19:57327461G>T	ENST00000326441.9	-	10	2712	c.2349C>A	c.(2347-2349)gcC>gcA	p.A783A	PEG3_ENST00000598410.1_Silent_p.A659A|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.A657A|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.A783A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	783					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A783A(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCCACAGAGGCTAAGCTAT	0.428																																																2	Substitution - coding silent(2)	kidney(2)											184	179	181					19																	57327461		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2349C>A	19.37:g.57327461G>T			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.428	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57327461	G	T	57327461	2	4	181	1	0	0	0	0	0	0	0	1	11722	987	35	4		4	PEG3	19	57327461	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08	5366218	57327461	1801522	85	10623											
PDYN	5173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	1961113	1961113	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr20:1961113A>T	ENST00000217305.2	-	4	846	c.621T>A	c.(619-621)taT>taA	p.Y207*	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Nonsense_Mutation_p.Y207*|PDYN_ENST00000539905.1_Nonsense_Mutation_p.Y207*	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	207					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.Y207*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAAGCCCCCATAGCGTTTGT	0.597																																																1	Substitution - Nonsense(1)	kidney(1)											104	115	112					20																	1961113		2203	4300	6503	SO:0001587	stop_gained	5173				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.621T>A	20.37:g.1961113A>T	ENSP00000217305:p.Tyr207*		A8K0Q3	Nonsense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.007804	0.93287	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	.	.	.	5.0	-6.12	0.02124	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4342	18.1854	0.89791	0.2596:0.0:0.7404:0.0	.	.	.	.	X	207	.	ENSP00000217305:Y207X	Y	-	3	2	PDYN	1909113	0.000000	0.05858	0.901000	0.35422	0.973000	0.67179	-1.998000	0.01469	-1.206000	0.02641	0.260000	0.18958	TAT		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			T	1961113	A	T	1961113	4	4	181	1	0	0	0	0	0	1	0	0	11701	224	8	5	147	5	PDYN	20	1961113	Nonsense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08		1961113	61064407	86	10624											
GSS	2937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33529582	33529582	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr20:33529582G>T	ENST00000216951.2	-	6	640	c.542C>A	c.(541-543)tCt>tAt	p.S181Y	GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_Missense_Mutation_p.S53Y	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	181					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.S181Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GGGATTATTAGAGAGGATCTT	0.517																																																1	Substitution - Missense(1)	kidney(1)											105	95	99					20																	33529582		2203	4300	6503	SO:0001583	missense	2937				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.542C>A	20.37:g.33529582G>T	ENSP00000216951:p.Ser181Tyr		B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123174	0.77436	.	.	ENSG00000100983	ENST00000216951;ENST00000541098	D;D	0.90844	-2.74;-2.74	5.78	4.83	0.62350	Glutathione synthase, N-terminal, eukaryotic (1);	0.265137	0.43416	D	0.000574	D	0.86171	0.5869	L	0.36672	1.1	0.37030	D	0.89661	B	0.25441	0.126	B	0.17722	0.019	D	0.86075	0.1540	10	0.66056	D	0.02	-3.4649	15.1356	0.72562	0.0679:0.0:0.9321:0.0	.	181	P48637	GSHB_HUMAN	Y	181;53	ENSP00000216951:S181Y;ENSP00000439744:S53Y	ENSP00000216951:S181Y	S	-	2	0	GSS	32993243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.924000	0.56476	1.591000	0.50007	0.655000	0.94253	TCT		0.517	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			T	33529582	G	T	33529582	3	4	181	1	0	0	0	0	1	0	0	0	6831	942	33	4	914	4	GSS	20	33529582	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	31568469	33529582	29495938	87	10625											
SLC37A1	54020	hgsc.bcm.edu	37	21	43962544	43962545	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr21:43962544_43962545insG	ENST00000352133.2	+	7	1499_1500	c.517_518insG	c.(517-519)tggfs	p.W173fs	SLC37A1_ENST00000398341.3_Frame_Shift_Ins_p.W173fs			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	173					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GACCACCGGCTGGCCCAGCGTC	0.569																																																0																																										SO:0001589	frameshift_variant	54020			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.519dupG	21.37:g.43962546_43962546dupG	ENSP00000344648:p.Trp173fs		D3DSJ7|Q9HAQ1	Frame_Shift_Ins	INS	ENST00000352133.2	37	CCDS13689.1																																																																																				0.569	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			G	43962545	-	G	43962544	7	5	181	1	0	1	1	0	0	0	0	0	14603	1580	55	0	539	0	SLC37A1	21	43962544	Frame_Shift_Ins	INS	-	TCGA-B0-5096-01A-01D-1421-08		43962544	4167351	88	10626											
PKNOX1	5316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	44448816	44448816	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr21:44448816A>T	ENST00000291547.5	+	10	1142	c.931A>T	c.(931-933)Atc>Ttc	p.I311F	PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Missense_Mutation_p.I194F	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	311					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I311F(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CTCCAGGTTCATCAATGCCAG	0.428																																																1	Substitution - Missense(1)	kidney(1)											185	201	195					21																	44448816		2203	4300	6503	SO:0001583	missense	5316				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.931A>T	21.37:g.44448816A>T	ENSP00000291547:p.Ile311Phe		O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.755780	0.89843	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.95238	-3.65;-3.65	5.38	5.38	0.77491	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	D	0.99797	1.1034	10	0.87932	D	0	-19.3003	15.6907	0.77450	1.0:0.0:0.0:0.0	.	311;311	P55347;P55347-2	PKNX1_HUMAN;.	F	311;194	ENSP00000291547:I311F;ENSP00000402243:I194F	ENSP00000291547:I311F	I	+	1	0	PKNOX1	43321885	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.355000	0.90083	2.170000	0.68504	0.528000	0.53228	ATC		0.428	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			T	44448816	A	T	44448816	3	4	181	1	0	0	0	0	1	0	0	0	11984	217	8	5	965	5	PKNOX1	21	44448816	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08	486272	44448816	3681079	89	10627											
TXNRD2	10587	broad.mit.edu;hgsc.bcm.edu	37	22	19883099	19883099	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr22:19883099C>T	ENST00000400521.1	-	11	786	c.780G>A	c.(778-780)atG>atA	p.M260I	TXNRD2_ENST00000535882.1_Missense_Mutation_p.M259I|TXNRD2_ENST00000334363.9_Missense_Mutation_p.M260I|TXNRD2_ENST00000400519.1_Missense_Mutation_p.M259I|TXNRD2_ENST00000400518.1_Missense_Mutation_p.M230I|TXNRD2_ENST00000542719.1_Missense_Mutation_p.M230I|TXNRD2_ENST00000491939.1_5'UTR	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	260					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.M260I(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CCATGGAGGACATTTGCTGCA	0.627																																																1	Substitution - Missense(1)	kidney(1)											41	46	44					22																	19883099		2087	4212	6299	SO:0001583	missense	10587			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.780G>A	22.37:g.19883099C>T	ENSP00000383365:p.Met260Ile		O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965597	0.74131	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	4.26	4.26	0.50523	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.61697	0.99;0.972;0.972;0.99	D;P;P;D	0.63381	0.914;0.788;0.788;0.914	T	0.54248	-0.8322	10	0.45353	T	0.12	-3.6985	15.2561	0.73585	0.0:1.0:0.0:0.0	.	260;260;228;259	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	I	230;260;260;237;164;259;259;230;260	ENSP00000383362:M230I;ENSP00000383365:M260I;ENSP00000383369:M237I;ENSP00000383363:M259I;ENSP00000439314:M259I;ENSP00000439570:M230I;ENSP00000334451:M260I	ENSP00000334451:M260I	M	-	3	0	TXNRD2	18263099	1.000000	0.71417	0.942000	0.38095	0.662000	0.39071	6.956000	0.76013	2.106000	0.64143	0.462000	0.41574	ATG		0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		T	19883099	C	T	19883099	3	4	181	1	0	0	0	0	1	0	0	0	16813	478	17	2	822	2	TXNRD2	22	19883099	Missense_Mutation	SNP	C	TCGA-B0-5096-01A-01D-1421-08		19883099	31421467	90	10628											
CBX6	23466	hgsc.bcm.edu	37	22	39262466	39262466	+	Silent	SNP	C	C	T	rs114863931	byFrequency	TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chr22:39262466C>T	ENST00000407418.3	-	5	1110	c.987G>A	c.(985-987)ccG>ccA	p.P329P	CBX6_ENST00000216083.6_Silent_p.P311P			O95503	CBX6_HUMAN	chromobox homolog 6	329					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TGACCTCAGGCGGTGCCCGCT	0.751																																																0													8	10	10					22																	39262466		2148	4138	6286	SO:0001819	synonymous_variant	23466				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.987G>A	22.37:g.39262466C>T			A8KAH0|Q96EM5	Silent	SNP	ENST00000407418.3	37	CCDS13980.1																																																																																				0.751	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		T	39262466	C	T	39262466	2	4	181	1	0	0	0	0	0	0	0	1	2724	755	27	1		1	CBX6	22	39262466	Silent	SNP	C	TCGA-B0-5096-01A-01D-1421-08	19379367	39262466	12042100	91	10629											
PNPLA4	8228	broad.mit.edu;hgsc.bcm.edu	37	X	7889834	7889834	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:7889834G>T	ENST00000381042.4	-	4	501	c.331C>A	c.(331-333)Ctg>Atg	p.L111M	PNPLA4_ENST00000537427.1_Missense_Mutation_p.L24M|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L111M	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	111	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)	p.L111M(1)|p.R110_L111insR(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GATACGTGCAGTCGGTTCTGG	0.453																																																2	Insertion - In frame(1)|Substitution - Missense(1)	large_intestine(1)|kidney(1)											127	108	115					X																	7889834		2203	4299	6502	SO:0001583	missense	8228			U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.331C>A	X.37:g.7889834G>T	ENSP00000370430:p.Leu111Met		A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972212	0.53614	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427;ENST00000442940	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	4.69	4.69	0.59074	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.91597	0.7345	M	0.85945	2.785	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.92977	0.6403	10	0.66056	D	0.02	-17.7322	15.4728	0.75453	0.0:0.0:1.0:0.0	.	111	P41247	PLPL4_HUMAN	M	111;111;24;111	ENSP00000370430:L111M;ENSP00000415245:L111M;ENSP00000443157:L24M;ENSP00000406698:L111M	ENSP00000370430:L111M	L	-	1	2	PNPLA4	7849834	1.000000	0.71417	0.018000	0.16275	0.327000	0.28475	5.367000	0.66127	1.941000	0.56285	0.600000	0.82982	CTG		0.453	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		T	7889834	G	T	7889834	3	4	181	1	0	0	0	0	1	0	0	0	12169	1020	36	4	446	4	PNPLA4	23	7889834	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08		7889834	147380726	92	10630											
FAM9A	171482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	8764374	8764374	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:8764374A>T	ENST00000543214.1	-	6	558	c.423T>A	c.(421-423)gaT>gaA	p.D141E	FAM9A_ENST00000381003.3_Missense_Mutation_p.D141E	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	141						nucleus (GO:0005634)		p.D141E(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				AAGCTGCTTTATCTATTTTTA	0.294																																																1	Substitution - Missense(1)	kidney(1)											157	120	133					X																	8764374		2203	4298	6501	SO:0001583	missense	171482				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.423T>A	X.37:g.8764374A>T	ENSP00000440163:p.Asp141Glu		B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	a	5.946	0.358481	0.11239	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.678	0.678	0.17969	.	.	.	.	.	T	0.31857	0.0810	L	0.34521	1.04	0.09310	N	1	D	0.64830	0.994	P	0.50617	0.646	T	0.15838	-1.0423	7	0.31617	T	0.26	.	.	.	.	.	141	Q8IZU1	FAM9A_HUMAN	E	141	.	ENSP00000370391:D141E	D	-	3	2	FAM9A	8724374	0.989000	0.36119	0.008000	0.14137	0.014000	0.08584	0.317000	0.19487	0.505000	0.28104	0.372000	0.22366	GAT		0.294	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		T	8764374	A	T	8764374	3	4	181	1	0	0	0	0	1	0	0	0	5661	446	16	5	591	5	FAM9A	23	8764374	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08	874540	8764374	146506186	93	10631											
COL4A6	1288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107431170	107431170	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:107431170G>A	ENST00000372216.4	-	22	1778	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	COL4A6_ENST00000394872.2_Missense_Mutation_p.R560W|COL4A6_ENST00000545689.1_Missense_Mutation_p.R559W|COL4A6_ENST00000538570.1_Missense_Mutation_p.R559W|COL4A6_ENST00000334504.7_Missense_Mutation_p.R559W	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	560	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.R559W(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GAATCACCCCGATCTCCTGGC	0.537									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Substitution - Missense(1)	kidney(1)											111	106	108					X																	107431170		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1678C>T	X.37:g.107431170G>A	ENSP00000361290:p.Arg560Trp		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	6.515	0.463214	0.12402	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.94537	-3.45;-3.45;-3.29;-3.45;-3.29	5.05	1.72	0.24424	.	1.201530	0.06288	N	0.698584	D	0.94182	0.8133	M	0.80616	2.505	0.09310	N	1	D;D;D;D	0.56035	0.968;0.968;0.974;0.968	B;B;B;B	0.40329	0.219;0.319;0.326;0.219	D	0.84193	0.0446	10	0.66056	D	0.02	.	12.425	0.55542	0.0:0.0:0.3655:0.6345	.	559;559;560;559	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	W	560;559;560;559;559;559	ENSP00000361290:R560W;ENSP00000334733:R559W;ENSP00000378340:R560W;ENSP00000443707:R559W;ENSP00000445236:R559W	ENSP00000334733:R559W	R	-	1	2	COL4A6	107317826	0.093000	0.21703	0.000000	0.03702	0.033000	0.12548	1.931000	0.40134	0.032000	0.15435	0.513000	0.50165	CGG		0.537	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			A	107431170	G	A	107431170	3	1	181	1	0	0	0	0	1	0	0	0	3697	1057	37	1	3493	1	COL4A6	23	107431170	Missense_Mutation	SNP	G	TCGA-B0-5096-01A-01D-1421-08	98666796	107431170	47839390	94	10632											
COL4A5	1287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107935977	107935977	+	Splice_Site	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:107935977G>T	ENST00000361603.2	+	48	4754		c.e48-1		COL4A5_ENST00000328300.6_Splice_Site	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AATCTTTCTAGGGACGGCTGG	0.403									Alport syndrome with Diffuse Leiomyomatosis																																							1	Unknown(1)	kidney(1)											106	84	92					X																	107935977		2203	4300	6503	SO:0001630	splice_region_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4511-1G>T	X.37:g.107935977G>T			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Splice_Site	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486729	0.63962	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0941	0.93242	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL4A5	107822633	1.000000	0.71417	0.971000	0.41717	0.658000	0.38924	9.869000	0.99810	2.459000	0.83118	0.594000	0.82650	.		0.403	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		Intron	T	107935977	G	T	107935977	5	4	181	1	0	0	0	0	0	0	1	0	3696	1014	35	4	4711	4	COL4A5	23	107935977	Splice_Site	SNP	G	TCGA-B0-5096-01A-01D-1421-08	504807	107935977	47334583	95	10633											
ATP1B4	23439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	119509282	119509282	+	Silent	SNP	C	C	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:119509282C>T	ENST00000218008.3	+	5	675	c.618C>T	c.(616-618)taC>taT	p.Y206Y	ATP1B4_ENST00000361319.3_Silent_p.Y202Y|ATP1B4_ENST00000539306.1_Silent_p.Y163Y	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	206					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.Y202Y(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CGGGGCAGTACTTCATCCAAG	0.463																																																1	Substitution - coding silent(1)	kidney(1)											141	125	131					X																	119509282		2203	4300	6503	SO:0001819	synonymous_variant	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.618C>T	X.37:g.119509282C>T			Q17RR0|Q9UN41	Silent	SNP	ENST00000218008.3	37	CCDS48158.1																																																																																				0.463	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		T	119509282	C	T	119509282	2	4	181	1	0	0	0	0	0	0	0	1	1135	576	20	2		2	ATP1B4	23	119509282	Silent	SNP	C	TCGA-B0-5096-01A-01D-1421-08	11573305	119509282	35761278	96	10634											
CT47B1	643311	broad.mit.edu	37	X	120009345	120009345	+	Silent	SNP	G	G	T			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:120009345G>T	ENST00000371311.3	-	1	434	c.180C>A	c.(178-180)ggC>ggA	p.G60G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	60								p.G60G(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCCCCGAGGCCTTCCACGG	0.741																																																1	Substitution - coding silent(1)	kidney(1)											4	7	6					X																	120009345		641	1452	2093	SO:0001819	synonymous_variant	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.180C>A	X.37:g.120009345G>T			A6NM97	Silent	SNP	ENST00000371311.3	37	CCDS48161.1																																																																																				0.741	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		T	120009345	G	T	120009345	2	4	181	1	0	0	0	0	0	0	0	1	3991	1190	42	4		4	CT47B1	23	120009345	Silent	SNP	G	TCGA-B0-5096-01A-01D-1421-08	500063	120009345	35261215	97	10635											
MTMR1	8776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	149900042	149900042	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5096-01A-01D-1421-08	TCGA-B0-5096-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	261de0a2-6006-4b3b-aac0-37d9b33840aa	4f944901-bdba-4e42-8dcd-bba2dae62b7b	g.chrX:149900042A>C	ENST00000370390.3	+	8	975	c.818A>C	c.(817-819)gAt>gCt	p.D273A	MTMR1_ENST00000445323.2_Missense_Mutation_p.D281A|MTMR1_ENST00000451863.2_Missense_Mutation_p.D273A|MTMR1_ENST00000541925.1_Missense_Mutation_p.D179A|MTMR1_ENST00000544228.1_Missense_Mutation_p.D273A|MTMR1_ENST00000538506.1_Missense_Mutation_p.D160A|MTMR1_ENST00000542156.1_Missense_Mutation_p.D273A	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	273	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.D273A(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGTAAAAGATGATGACCTT	0.368																																																1	Substitution - Missense(1)	kidney(1)											118	110	113					X																	149900042		2203	4300	6503	SO:0001583	missense	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.818A>C	X.37:g.149900042A>C	ENSP00000359417:p.Asp273Ala		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542106	0.85917	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-2.96	5.42	5.42	0.78866	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.086000	0.85682	D	0.000000	D	0.97936	0.9321	H	0.97564	4.03	0.80722	D	1	P;D;D	0.55605	0.955;0.972;0.967	P;P;P	0.58577	0.841;0.822;0.659	D	0.99100	1.0843	9	.	.	.	.	14.7392	0.69440	1.0:0.0:0.0:0.0	.	273;281;273	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	A	179;273;273;281;273;273;160	ENSP00000441879:D179A;ENSP00000445281:D273A;ENSP00000359417:D273A;ENSP00000414178:D281A;ENSP00000440534:D273A;ENSP00000387446:D273A;ENSP00000443444:D160A	.	D	+	2	0	MTMR1	149650700	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	9.287000	0.95975	1.930000	0.55929	0.441000	0.28932	GAT		0.368	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		C	149900042	A	C	149900042	3	2	181	1	0	0	0	0	1	0	0	0	9940	333	12	5	848	5	MTMR1	23	149900042	Missense_Mutation	SNP	A	TCGA-B0-5096-01A-01D-1421-08	29890697	149900042	5370518	98	10636											
SPSB1	80176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	9415972	9415972	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:9415972G>A	ENST00000328089.6	+	2	363	c.22G>A	c.(22-24)Ggg>Agg	p.G8R	SPSB1_ENST00000357898.3_Missense_Mutation_p.G8R|SPSB1_ENST00000377399.2_Missense_Mutation_p.G8R	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	8					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.G8R(1)		breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGTCACTGGAGGGATCAAGAC	0.562																																																1	Substitution - Missense(1)	kidney(1)											98	96	97					1																	9415972		2203	4300	6503	SO:0001583	missense	80176				CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.22G>A	1.37:g.9415972G>A	ENSP00000330221:p.Gly8Arg		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Missense_Mutation	SNP	ENST00000328089.6	37	CCDS102.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.780110	0.90195	.	.	ENSG00000171621	ENST00000328089;ENST00000450402;ENST00000357898;ENST00000377399	T;T;T;T	0.45668	0.89;0.9;0.89;0.89	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.66939	2.045	0.80722	D	1	P	0.45715	0.865	P	0.52957	0.714	T	0.60347	-0.7281	10	0.62326	D	0.03	-9.2618	17.9821	0.89145	0.0:0.0:1.0:0.0	.	8	Q96BD6	SPSB1_HUMAN	R	8	ENSP00000330221:G8R;ENSP00000409235:G8R;ENSP00000350573:G8R;ENSP00000366616:G8R	ENSP00000330221:G8R	G	+	1	0	SPSB1	9338559	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.799000	0.99117	2.481000	0.83766	0.651000	0.88453	GGG		0.562	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		A	9415972	G	A	9415972	3	1	182	1	0	0	0	0	1	0	0	0	15117	1000	35	2	24	2	SPSB1	1	9415972	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08		9415972	239834649	1	10637											
SFRS4	6429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29481292	29481292	+	Missense_Mutation	SNP	A	A	G	rs111495066		TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:29481292A>G	ENST00000373795.4	-	4	728	c.494T>C	c.(493-495)gTc>gCc	p.V165A	SRSF4_ENST00000546138.1_Intron|RP11-242O24.5_ENST00000450108.1_RNA|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	165	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V165A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TCTCCCATTGACTTCAGTTCC	0.428																																																1	Substitution - Missense(1)	kidney(1)											120	120	120					1																	29481292		2203	4300	6503	SO:0001583	missense	6429			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	protein-coding gene	gene with protein product	"SR splicing factor 4"	601940	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.494T>C	1.37:g.29481292A>G	ENSP00000362900:p.Val165Ala		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	CCDS333.1	.	.	.	.	.	.	.	.	.	.	A	33	5.194391	0.94960	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.18960	2.18	5.47	5.47	0.80525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.172323	0.50627	D	0.000101	T	0.47229	0.1434	M	0.85299	2.745	0.80722	D	1	D	0.53462	0.96	P	0.58577	0.841	T	0.54768	-0.8244	10	0.87932	D	0	.	15.0244	0.71656	1.0:0.0:0.0:0.0	.	165	Q08170	SRSF4_HUMAN	A	165	ENSP00000362900:V165A	ENSP00000362900:V165A	V	-	2	0	SRSF4	29353879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.803000	0.91915	2.187000	0.69744	0.528000	0.53228	GTC		0.428	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		G	29481292	A	G	29481292	3	3	182	1	0	0	0	0	1	0	0	0	14185	275	10	3	1002	3	SFRS4	1	29481292	Missense_Mutation	SNP	A	TCGA-B0-5097-01A-01D-1421-08	20065320	29481292	219769329	2	10638											
GCLM	2730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94370100	94370100	+	Silent	SNP	T	T	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:94370100T>C	ENST00000370238.3	-	2	417	c.171A>G	c.(169-171)caA>caG	p.Q57Q	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	57					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)	p.Q57Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	CTGGGTTGATTTGGGAACTCC	0.338																																																1	Substitution - coding silent(1)	kidney(1)											131	121	124					1																	94370100		2203	4300	6503	SO:0001819	synonymous_variant	2730			L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"gamma-glutamylcysteine synthetase"	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.171A>G	1.37:g.94370100T>C			A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Silent	SNP	ENST00000370238.3	37	CCDS746.1																																																																																				0.338	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1	NM_002061		C	94370100	T	C	94370100	2	2	182	1	0	0	0	0	0	0	0	1	6298	1838	64	3		3	GCLM	1	94370100	Silent	SNP	T	TCGA-B0-5097-01A-01D-1421-08	64888808	94370100	154880521	3	10639											
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu	37	1	144865887	144865887	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:144865887G>C	ENST00000369354.3	-	35	5882	c.5693C>G	c.(5692-5694)cCt>cGt	p.P1898R	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P1983R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1898R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P1792R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P2034R|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1898					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.P1898R(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCAGAGCTGAGGTATGGACTC	0.458			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	3	Substitution - Missense(3)	kidney(2)|central_nervous_system(1)											275	286	283					1																	144865887		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5693C>G	1.37:g.144865887G>C	ENSP00000358360:p.Pro1898Arg		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.665810|2.665810	0.47677|0.47677	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.01560	.|4.77;4.89;4.89;4.87;4.89	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|.	.|.	.|.	.|.	T|T	0.01976|0.01976	0.0062|0.0062	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|P;P	.|0.45474	.|0.859;0.808	.|B;B	.|0.42555	.|0.316;0.391	T|T	0.57118|0.57118	-0.7866|-0.7866	5|9	.|0.66056	.|D	.|0.02	.|.	17.3704|17.3704	0.87376|0.87376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1792;1898	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	V|R	55|1792;1898;1898;1983;2034	.|ENSP00000327209:P1792R;ENSP00000358360:P1898R;ENSP00000358363:P1898R;ENSP00000435654:P1983R;ENSP00000358366:P2034R	.|ENSP00000327209:P1792R	L|P	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143577244|143577244	0.610000|0.610000	0.26983|0.26983	0.880000|0.880000	0.34516|0.34516	0.112000|0.112000	0.19704|0.19704	2.243000|2.243000	0.43115|0.43115	2.695000|2.695000	0.91970|0.91970	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144865887	G	C	144865887	3	2	182	1	0	0	0	0	1	0	0	0	11645	1000	35	4	1387	4	PDE4DIP	1	144865887	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08	50495787	144865887	104384734	4	10640											
MAEL	84944	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	166962002	166962002	+	Silent	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:166962002C>T	ENST00000367872.4	+	4	649	c.405C>T	c.(403-405)ctC>ctT	p.L135L	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Silent_p.L104L	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	135					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.L135L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AGCGCTTCCTCCCTTGTGAAA	0.378																																																1	Substitution - coding silent(1)	kidney(1)											116	114	115					1																	166962002		2203	4300	6503	SO:0001819	synonymous_variant	84944			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.405C>T	1.37:g.166962002C>T			B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	CCDS1257.1																																																																																				0.378	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		T	166962002	C	T	166962002	2	4	182	1	0	0	0	0	0	0	0	1	9156	842	30	2		2	MAEL	1	166962002	Silent	SNP	C	TCGA-B0-5097-01A-01D-1421-08	22096115	166962002	82288619	5	10641											
TOR3A	64222	broad.mit.edu;hgsc.bcm.edu	37	1	179057211	179057211	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:179057211T>G	ENST00000367627.3	+	4	1557	c.805T>G	c.(805-807)Ttt>Gtt	p.F269V	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Missense_Mutation_p.F269V	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	269					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F269V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						ATGGACTATCTTTCTGTTTCT	0.607																																																1	Substitution - Missense(1)	kidney(1)											60	64	63					1																	179057211		2203	4300	6503	SO:0001583	missense	64222			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.805T>G	1.37:g.179057211T>G	ENSP00000356599:p.Phe269Val		B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523458	0.85600	.	.	ENSG00000186283	ENST00000367627;ENST00000352445;ENST00000447595	T;T;T	0.26518	1.73;1.73;1.73	5.33	5.33	0.75918	.	0.050984	0.85682	D	0.000000	T	0.60586	0.2280	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71510	-0.4571	10	0.87932	D	0	-11.5547	14.4846	0.67609	0.0:0.0:0.0:1.0	.	269	Q9H497	TOR3A_HUMAN	V	269;269;161	ENSP00000356599:F269V;ENSP00000335351:F269V;ENSP00000410195:F161V	ENSP00000335351:F269V	F	+	1	0	TOR3A	177323834	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	5.877000	0.69675	2.014000	0.59158	0.459000	0.35465	TTT		0.607	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		G	179057211	T	G	179057211	3	3	182	1	0	0	0	0	1	0	0	0	16381	1609	56	5	819	5	TOR3A	1	179057211	Missense_Mutation	SNP	T	TCGA-B0-5097-01A-01D-1421-08	12095209	179057211	70193410	6	10642											
WDR64	128025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	241875161	241875161	+	Silent	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:241875161G>A	ENST00000366552.2	+	8	1209	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	WDR64_ENST00000437684.2_Silent_p.K334K	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	334								p.K334K(1)|p.K54K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACTGTGTTAAGGCAAATGTGA	0.408																																																2	Substitution - coding silent(2)	kidney(2)											117	108	111					1																	241875161		2203	4300	6503	SO:0001819	synonymous_variant	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1002G>A	1.37:g.241875161G>A			B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37																																																																																					0.408	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		A	241875161	G	A	241875161	2	1	182	1	0	0	0	0	0	0	0	1	17320	991	35	2		2	WDR64	1	241875161	Silent	SNP	G	TCGA-B0-5097-01A-01D-1421-08	62817950	241875161	7375460	7	10643											
ALMS1	7840	broad.mit.edu;hgsc.bcm.edu	37	2	73677725	73677725	+	Silent	SNP	T	T	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:73677725T>A	ENST00000264448.6	+	8	4179	c.4068T>A	c.(4066-4068)gcT>gcA	p.A1356A	ALMS1_ENST00000409009.1_Silent_p.A1314A|ALMS1_ENST00000377715.1_Silent_p.A1356A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1356	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.A1356A(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGAAGAGGCTCTGAAAATTT	0.438																																																1	Substitution - coding silent(1)	kidney(1)											88	90	89					2																	73677725		1848	4091	5939	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4068T>A	2.37:g.73677725T>A			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73677725	T	A	73677725	2	1	182	1	0	0	0	0	0	0	0	1	535	1538	54	5		5	ALMS1	2	73677725	Silent	SNP	T	TCGA-B0-5097-01A-01D-1421-08		73677725	169521648	8	10644											
ASTL	431705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	96789864	96789864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:96789864C>A	ENST00000342380.2	-	9	1020	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.E341*(1)|p.E341K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TGTGGGCTCTCCCCAGGCCCT	0.652																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	kidney(1)|skin(1)											42	47	45					2																	96789864		2203	4299	6502	SO:0001587	stop_gained	431705			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.1021G>T	2.37:g.96789864C>A	ENSP00000343674:p.Glu341*			Nonsense_Mutation	SNP	ENST00000342380.2	37	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673527	0.29693	.	.	ENSG00000188886	ENST00000342380	.	.	.	4.77	1.83	0.25207	.	1.101640	0.07105	N	0.841237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.975	5.8929	0.18923	0.0:0.6492:0.1613:0.1895	.	.	.	.	X	341	.	ENSP00000343674:E341X	E	-	1	0	ASTL	96153591	0.020000	0.18652	0.102000	0.21198	0.028000	0.11728	0.559000	0.23485	0.515000	0.28320	-0.314000	0.08810	GAG		0.652	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			A	96789864	C	A	96789864	4	1	182	1	0	0	0	0	0	1	0	0	1063	864	30	4	277	4	ASTL	2	96789864	Nonsense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	23112139	96789864	146409509	9	10645											
NFE2L2	4780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178098803	178098803	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:178098803C>T	ENST00000397062.3	-	2	796	c.242G>A	c.(241-243)gGt>gAt	p.G81D	NFE2L2_ENST00000464747.1_Missense_Mutation_p.G65D|NFE2L2_ENST00000423513.1_Missense_Mutation_p.G65D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G65D|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G65D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	81					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G81D(5)|p.G81V(4)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GAGAAATTCACCTGTCTCTTC	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	10	Substitution - Missense(9)|Deletion - In frame(1)	lung(4)|oesophagus(2)|liver(2)|endometrium(1)|kidney(1)											143	142	142					2																	178098803		1901	4105	6006	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.242G>A	2.37:g.178098803C>T	ENSP00000380252:p.Gly81Asp		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.944073|4.944073	0.92593|0.92593	.|.	.|.	ENSG00000116044|ENSG00000116044	ENST00000449627|ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	.|T;T;T;T;T;T	.|0.51817	.|1.19;1.19;1.19;0.69;0.69;1.19	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.75110	.|0.3805	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.999;1.0;0.999	.|T	.|0.78563	.|-0.2156	.|10	.|0.87932	.|D	.|0	.|.	19.9976|19.9976	0.97389|0.97389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|65;65;65;81	.|E9PGJ7;B4DNB0;C9JFL6;Q16236	.|.;.;.;NF2L2_HUMAN	.|D	-1|65;81;65;65;65;65	.|ENSP00000380253:G65D;ENSP00000380252:G81D;ENSP00000411575:G65D;ENSP00000400073:G65D;ENSP00000412191:G65D;ENSP00000410015:G65D	.|ENSP00000380252:G81D	.|G	-|-	.|2	.|0	NFE2L2|NFE2L2	177807049|177807049	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.993000|0.993000	0.82548|0.82548	7.298000|7.298000	0.78815|0.78815	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	.|GGT		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		T	178098803	C	T	178098803	3	4	182	1	0	0	0	0	1	0	0	0	10370	507	18	2	1591	2	NFE2L2	2	178098803	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	81308939	178098803	65100570	10	10646											
NAB1	4664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191550288	191550288	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:191550288G>C	ENST00000337386.5	+	8	1643	c.1182G>C	c.(1180-1182)ttG>ttC	p.L394F	AC006460.2_ENST00000428032.1_RNA|NAB1_ENST00000545490.1_Missense_Mutation_p.L134F|AC006460.2_ENST00000411949.1_RNA|AC006460.2_ENST00000421437.1_RNA|NAB1_ENST00000357215.5_Missense_Mutation_p.L365F|NAB1_ENST00000409641.1_Missense_Mutation_p.L393F|NAB1_ENST00000409581.1_Missense_Mutation_p.L394F	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	394					endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L394F(1)		kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			AGAGGAGGTTGTCTGCAGGGC	0.488																																																1	Substitution - Missense(1)	kidney(1)											76	70	72					2																	191550288		2203	4300	6503	SO:0001583	missense	4664				CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"EGR1 binding protein 1"	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.1182G>C	2.37:g.191550288G>C	ENSP00000336894:p.Leu394Phe		O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	CCDS2307.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.43|10.43	1.347179|1.347179	0.24426|0.24426	.|.	.|.	ENSG00000138386|ENSG00000138386	ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641;ENST00000545490|ENST00000434473	.|.	.|.	.|.	5.28|5.28	2.46|2.46	0.29980|0.29980	Nab1, C-terminal (1);|.	0.149351|.	0.45606|.	D|.	0.000342|.	T|T	0.22282|0.22282	0.0537|0.0537	N|N	0.14661|0.14661	0.345|0.345	0.30867|0.30867	N|N	0.732923|0.732923	P;D;D|.	0.58970|.	0.95;0.984;0.984|.	P;P;P|.	0.57679|.	0.648;0.825;0.825|.	T|T	0.23154|0.23154	-1.0196|-1.0196	9|5	0.40728|.	T|.	0.16|.	-11.1684|-11.1684	3.3706|3.3706	0.07219|0.07219	0.0816:0.2623:0.408:0.248|0.0816:0.2623:0.408:0.248	.|.	365;393;394|.	F8W8J7;B8ZZS2;Q13506|.	.;.;NAB1_HUMAN|.	F|L	394;394;365;393;134|147	.|.	ENSP00000336894:L394F|.	L|V	+|+	3|1	2|0	NAB1|NAB1	191258533|191258533	0.997000|0.997000	0.39634|0.39634	0.747000|0.747000	0.31113|0.31113	0.023000|0.023000	0.10783|0.10783	0.454000|0.454000	0.21827|0.21827	0.349000|0.349000	0.23975|0.23975	-0.136000|-0.136000	0.14681|0.14681	TTG|GTC		0.488	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		C	191550288	G	C	191550288	3	2	182	1	0	0	0	0	1	0	0	0	10133	1368	48	4	1200	4	NAB1	2	191550288	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08	13451485	191550288	51649085	11	10647											
DNAH7	56171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	196642652	196642652	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:196642652C>T	ENST00000312428.6	-	59	11036	c.10936G>A	c.(10936-10938)Gtg>Atg	p.V3646M	DNAH7_ENST00000409063.1_Missense_Mutation_p.V129M	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3646					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.V3646M(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATCGGTCACTCTGCCTCCG	0.473																																																1	Substitution - Missense(1)	kidney(1)											83	85	84					2																	196642652		2183	4294	6477	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10936G>A	2.37:g.196642652C>T	ENSP00000311273:p.Val3646Met		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598531	0.66332	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.14022	2.54;2.54	4.98	4.98	0.66077	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.60907	0.2305	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80783	-0.1228	10	0.87932	D	0	.	18.0378	0.89309	0.0:1.0:0.0:0.0	.	3646	Q8WXX0	DYH7_HUMAN	M	3646;129	ENSP00000311273:V3646M;ENSP00000386912:V129M	ENSP00000311273:V3646M	V	-	1	0	DNAH7	196350897	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	7.207000	0.77899	2.583000	0.87209	0.655000	0.94253	GTG		0.473	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196642652	C	T	196642652	3	4	182	1	0	0	0	0	1	0	0	0	4608	565	20	2	1166	2	DNAH7	2	196642652	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	5092364	196642652	46556721	12	10648											
DOCK10	55619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225729384	225729384	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:225729384A>C	ENST00000258390.7	-	13	1555	c.1488T>G	c.(1486-1488)ttT>ttG	p.F496L	DOCK10_ENST00000409592.3_Missense_Mutation_p.F490L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	496					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F496L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGCTTACAGAAAATACAGCCT	0.353																																																1	Substitution - Missense(1)	kidney(1)											72	67	68					2																	225729384		1815	4085	5900	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1488T>G	2.37:g.225729384A>C	ENSP00000258390:p.Phe496Leu		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140863	0.56936	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.42900	0.96;0.96	5.77	0.874	0.19124	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.72118	2.19	0.36160	D	0.848039	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.80764	0.986;0.994;0.986	T	0.61520	-0.7046	10	0.44086	T	0.13	.	9.5029	0.39028	0.5322:0.0:0.4678:0.0	.	496;496;490	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	L	490;496	ENSP00000386694:F490L;ENSP00000258390:F496L	ENSP00000258390:F496L	F	-	3	2	DOCK10	225437628	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	2.352000	0.44080	0.199000	0.20427	0.528000	0.53228	TTT		0.353	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			C	225729384	A	C	225729384	3	2	182	1	0	0	0	0	1	0	0	0	4687	11	1	5	5248	5	DOCK10	2	225729384	Missense_Mutation	SNP	A	TCGA-B0-5097-01A-01D-1421-08	29086732	225729384	17469989	13	10649											
VHL	7428	broad.mit.edu|broad.mit.edu;hgsc.bcm.edu	37	3	10183752	10183753	+	Missense_Mutation	DNP	TC	TC	AT	rs5030803		TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T|C	T|C	T|.	A|.	T|.	T|.	Unknown	Valid|Untested	Somatic	Phase_I	WXS	Illumina Miseq|none			Illumina GAIIx|Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr3:10183752_10183753TC>AT	ENST00000256474.2	+	1	1061_1062	c.221_222TC>AT	c.(220-222)gTC>gAT	p.V74D	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.V74D	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	74			V -> G (in VHLD; type I-II; dbSNP:rs5030803). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V74D(8)|p.V74A(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.I75fs*54(1)|p.P71fs*56(1)|p.V74>?(1)|p.V74fs*77(1)|p.V74V(1)|p.V74fs*82(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCTCCCAGGTCATCTTCTGCA	0.723		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	20	Substitution - Missense(9)|Deletion - Frameshift(7)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex(1)|Substitution - coding silent(1)	kidney(19)|soft_tissue(1)	GRCh37	CM961417	VHL	M	rs5030803																																			SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	Exception_encountered	3.37:g.10183752_10183753delinsAT	ENSP00000256474:p.Val74Asp		B2RE45|Q13599|Q6PDA9	Missense_Mutation|Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.723	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		AT	10183753	TC	AT	10183752	3	1	182	1	0	0	0	0	1	0	0	0	17167	1667	58	5	223	5	VHL	3	10183752	Missense_Mutation	DNP	TC	TCGA-B0-5097-01A-01D-1421-08		10183752	187838678	14	10650											
FBLN2	2199	broad.mit.edu;ucsc.edu	37	3	13670697	13670697	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr3:13670697G>T	ENST00000295760.7	+	12	2675	c.2606G>T	c.(2605-2607)tGc>tTc	p.C869F	FBLN2_ENST00000535798.1_Missense_Mutation_p.C895F|FBLN2_ENST00000404922.3_Missense_Mutation_p.C916F|FBLN2_ENST00000492059.1_Missense_Mutation_p.C916F	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	869	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.C916F(1)|p.C335F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GTGCACCGCTGCGGTGAGGGC	0.652																																																2	Substitution - Missense(2)	kidney(2)											44	50	48					3																	13670697		2120	4233	6353	SO:0001583	missense	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2606G>T	3.37:g.13670697G>T	ENSP00000295760:p.Cys869Phe		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378592	0.82682	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99445	-5.14;-5.14;-5.91;-5.14	4.91	4.91	0.64330	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.97112	0.9805	10	0.87932	D	0	.	18.095	0.89487	0.0:0.0:1.0:0.0	.	869;916;895	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	F	895;916;869;916	ENSP00000445705:C895F;ENSP00000384169:C916F;ENSP00000295760:C869F;ENSP00000420042:C916F	ENSP00000295760:C869F	C	+	2	0	FBLN2	13645698	1.000000	0.71417	0.738000	0.30950	0.941000	0.58515	9.593000	0.98250	2.258000	0.74832	0.655000	0.94253	TGC		0.652	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		T	13670697	G	T	13670697	3	4	182	1	0	0	0	0	1	0	0	0	5701	1319	46	4	1483	4	FBLN2	3	13670697	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08	3486945	13670697	184351733	15	10651											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52441262	52441262	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr3:52441262A>C	ENST00000460680.1	-	7	979	c.508T>G	c.(508-510)Ttt>Gtt	p.F170V	BAP1_ENST00000296288.5_Missense_Mutation_p.F170V	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F170V(2)|p.E166fs*13(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TAGCTGACAAAGTGGAACGCC	0.577			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	3	Substitution - Missense(2)|Deletion - Frameshift(1)	prostate(1)|eye(1)|kidney(1)											83	81	82					3																	52441262		2203	4300	6503	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.508T>G	3.37:g.52441262A>C	ENSP00000417132:p.Phe170Val		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.040462	0.93630	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	T;T;T	0.75260	-0.92;-0.92;-0.92	5.95	5.95	0.96441	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	D	0.90174	0.6929	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92742	0.6209	10	0.87932	D	0	-8.6289	16.4216	0.83760	1.0:0.0:0.0:0.0	.	170	Q92560	BAP1_HUMAN	V	170;170;91	ENSP00000417132:F170V;ENSP00000296288:F170V;ENSP00000417776:F91V	ENSP00000296288:F170V	F	-	1	0	BAP1	52416302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.297000	0.96120	2.285000	0.76669	0.533000	0.62120	TTT		0.577	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			C	52441262	A	C	52441262	3	2	182	1	0	0	0	0	1	0	0	0	1311	72	3	5	1725	5	BAP1	3	52441262	Missense_Mutation	SNP	A	TCGA-B0-5097-01A-01D-1421-08	38770565	52441262	145581168	16	10652											
EPHA3	2042	hgsc.bcm.edu;ucsc.edu	37	3	89468448	89468448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr3:89468448delA	ENST00000336596.2	+	11	2207	c.1982delA	c.(1981-1983)gaafs	p.E661fs	EPHA3_ENST00000494014.1_Frame_Shift_Del_p.E661fs	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	661	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGCTACACAGAAAAGCAGAGG	0.428										TSP Lung(6;0.00050)																																						0													104	98	100					3																	89468448		2203	4300	6503	SO:0001589	frameshift_variant	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1982delA	3.37:g.89468448delA	ENSP00000337451:p.Glu661fs		Q9H2V3|Q9H2V4	Frame_Shift_Del	DEL	ENST00000336596.2	37	CCDS2922.1																																																																																				0.428	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		-	89468448	A	-	89468448	7	5	182	1	0	1	0	1	0	0	0	0	5170	246	9	0	2050	0	EPHA3	3	89468448	Frame_Shift_Del	DEL	A	TCGA-B0-5097-01A-01D-1421-08	37027186	89468448	108553982	17	10653											
POLR2H	5437	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184082991	184082991	+	Silent	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr3:184082991C>T	ENST00000456318.1	+	4	1277	c.228C>T	c.(226-228)aaC>aaT	p.N76N	POLR2H_ENST00000452961.1_Silent_p.N40N|POLR2H_ENST00000438240.1_Silent_p.N40N|POLR2H_ENST00000429568.1_Silent_p.N76N|POLR2H_ENST00000443489.1_Silent_p.N40N|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000296223.3_Silent_p.N76N|POLR2H_ENST00000430783.1_Silent_p.N76N	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	76					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.N76N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGAATACAACCCCACTGATG	0.408																																																1	Substitution - coding silent(1)	kidney(1)											180	167	172					3																	184082991		2203	4300	6503	SO:0001819	synonymous_variant	5437				CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"RNA polymerase subunits"	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.228C>T	3.37:g.184082991C>T			C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Silent	SNP	ENST00000456318.1	37	CCDS3264.1																																																																																				0.408	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345558.1	NM_006232		T	184082991	C	T	184082991	2	4	182	1	0	0	0	0	0	0	0	1	12223	506	18	2		2	POLR2H	3	184082991	Silent	SNP	C	TCGA-B0-5097-01A-01D-1421-08	94614543	184082991	13939439	18	10654											
PIGG	54872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	515604	515604	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr4:515604T>A	ENST00000453061.2	+	8	1594	c.1488T>A	c.(1486-1488)agT>agA	p.S496R	PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.S488R|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.S407R|PIGG_ENST00000383028.4_Missense_Mutation_p.S363R|PIGG_ENST00000509768.1_Missense_Mutation_p.S407R	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	496					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.S488R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CAGCTGAAAGTTCGTGCTACT	0.552																																																1	Substitution - Missense(1)	kidney(1)											178	153	162					4																	515604		2203	4300	6503	SO:0001583	missense	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1488T>A	4.37:g.515604T>A	ENSP00000415203:p.Ser496Arg		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436318	0.43224	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000509768	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.84	-6.28	0.02020	.	0.153208	0.64402	D	0.000001	T	0.29158	0.0725	M	0.65975	2.015	0.40221	D	0.977733	B;B;B;B	0.26577	0.153;0.017;0.036;0.061	B;B;B;B	0.33254	0.16;0.01;0.022;0.048	T	0.11743	-1.0575	10	0.19147	T	0.46	.	2.3123	0.04189	0.1838:0.3146:0.0913:0.4103	.	363;407;496;488	Q5H8A4-3;D6RFE8;Q5H8A4;Q5H8A4-2	.;.;PIGG_HUMAN;.	R	488;496;407;363;407	ENSP00000311750:S488R;ENSP00000415203:S496R;ENSP00000424800:S407R;ENSP00000372494:S363R;ENSP00000421550:S407R	ENSP00000311750:S488R	S	+	3	2	PIGG	505604	0.000000	0.05858	0.001000	0.08648	0.874000	0.50279	-0.553000	0.06012	-0.851000	0.04147	-0.337000	0.08149	AGT		0.552	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		A	515604	T	A	515604	3	1	182	1	0	0	0	0	1	0	0	0	11890	1722	60	5	1518	5	PIGG	4	515604	Missense_Mutation	SNP	T	TCGA-B0-5097-01A-01D-1421-08		515604	190638672	19	10655											
DCAF4L1	285429	broad.mit.edu;ucsc.edu	37	4	41983927	41983927	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr4:41983927A>C	ENST00000333141.5	+	1	215	c.118A>C	c.(118-120)Acc>Ccc	p.T40P		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	40								p.T40P(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CCTCAACGTCACCAGTTACTC	0.532																																																1	Substitution - Missense(1)	kidney(1)											142	124	130					4																	41983927		2203	4300	6503	SO:0001583	missense	285429			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.118A>C	4.37:g.41983927A>C	ENSP00000327796:p.Thr40Pro		B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	A	8.736	0.917914	0.17982	.	.	ENSG00000182308	ENST00000333141	T	0.39229	1.09	0.688	0.688	0.18027	WD40 repeat-like-containing domain (1);	0.333095	0.34725	N	0.003737	T	0.29588	0.0738	L	0.53249	1.67	0.20638	N	0.999879	B	0.31655	0.334	B	0.18263	0.021	T	0.15838	-1.0423	9	0.45353	T	0.12	.	.	.	.	.	40	Q3SXM0	DC4L1_HUMAN	P	40	ENSP00000327796:T40P	ENSP00000327796:T40P	T	+	1	0	DCAF4L1	41678684	0.000000	0.05858	0.329000	0.25429	0.577000	0.36160	-0.615000	0.05597	0.530000	0.28619	0.260000	0.18958	ACC		0.532	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		C	41983927	A	C	41983927	3	2	182	1	0	0	0	0	1	0	0	0	4273	159	6	5	120	5	DCAF4L1	4	41983927	Missense_Mutation	SNP	A	TCGA-B0-5097-01A-01D-1421-08	41468323	41983927	149170349	20	10656											
CLOCK	9575	broad.mit.edu;ucsc.edu	37	4	56314944	56314945	+	Splice_Site	DNP	AC	AC	GA			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr4:56314944_56314945AC>GA	ENST00000309964.4	-	17	1790		c.e17+1		CLOCK_ENST00000381322.1_Splice_Site|CLOCK_ENST00000513440.1_Splice_Site	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator						cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.?(3)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ACCAAAAAGTACCTGGGACATG	0.366																																																3	Unknown(3)	kidney(3)																																								SO:0001630	splice_region_variant	9575			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1540_1540delinsGA	4.37:g.56314944_56314945delinsGA			A0AV01|A2I2N9|O14516|Q9UIT8	Splice_Site	SNP	ENST00000309964.4	37	CCDS3500.1																																																																																				0.366	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	Intron	GA	56314945	AC	GA	56314944	5	3	182	1	0	0	0	0	0	0	1	0	3551	405	14	3	1023	3	CLOCK	4	56314944	Splice_Site	DNP	AC	TCGA-B0-5097-01A-01D-1421-08	14331017	56314944	134839332	21	10657											
TMPRSS11D	9407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	68719845	68719845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr4:68719845G>A	ENST00000283916.6	-	3	288	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	TMPRSS11D_ENST00000545541.1_5'UTR|TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q64*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAATTTAACTGACTATTATAT	0.303																																																1	Substitution - Nonsense(1)	kidney(1)											72	79	77					4																	68719845		2203	4297	6500	SO:0001587	stop_gained	9407			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.190C>T	4.37:g.68719845G>A	ENSP00000283916:p.Gln64*		Q08AF6	Nonsense_Mutation	SNP	ENST00000283916.6	37	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111997	0.56398	.	.	ENSG00000153802	ENST00000283916	.	.	.	5.3	-2.8	0.05823	.	0.861997	0.09852	N	0.747406	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	11.0125	0.47671	0.0:0.5178:0.1803:0.3019	.	.	.	.	X	64	.	ENSP00000283916:Q64X	Q	-	1	0	TMPRSS11D	68402440	0.001000	0.12720	0.000000	0.03702	0.104000	0.19210	-0.020000	0.12525	-0.958000	0.03622	0.563000	0.77884	CAG		0.303	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		A	68719845	G	A	68719845	4	1	182	1	0	0	0	0	0	1	0	0	16246	1299	45	2	1098	2	TMPRSS11D	4	68719845	Nonsense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08	12404901	68719845	122434431	22	10658											
CD180	4064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66479940	66479940	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:66479940T>G	ENST00000256447.4	-	3	888	c.731A>C	c.(730-732)aAc>aCc	p.N244T		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	244					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N244T(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AGTAGTAGAGTTCTGCAGACC	0.413																																																1	Substitution - Missense(1)	kidney(1)											83	90	88					5																	66479940		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.731A>C	5.37:g.66479940T>G	ENSP00000256447:p.Asn244Thr		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099872	0.37048	.	.	ENSG00000134061	ENST00000256447	T	0.37915	1.17	5.4	4.23	0.50019	.	0.225550	0.39909	N	0.001232	T	0.36963	0.0986	M	0.78223	2.4	0.40232	D	0.977867	P	0.42993	0.797	B	0.39152	0.292	T	0.26744	-1.0094	10	0.22706	T	0.39	.	10.5779	0.45238	0.1436:0.0:0.0:0.8564	.	244	Q99467	CD180_HUMAN	T	244	ENSP00000256447:N244T	ENSP00000256447:N244T	N	-	2	0	CD180	66515696	0.400000	0.25295	0.760000	0.31359	0.954000	0.61252	1.645000	0.37238	1.054000	0.40438	0.533000	0.62120	AAC		0.413	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		G	66479940	T	G	66479940	3	3	182	1	0	0	0	0	1	0	0	0	2974	1725	60	5	1258	5	CD180	5	66479940	Missense_Mutation	SNP	T	TCGA-B0-5097-01A-01D-1421-08		66479940	114435320	23	10659											
TNPO1	3842	broad.mit.edu;hgsc.bcm.edu	37	5	72185719	72185719	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:72185719C>G	ENST00000337273.5	+	14	2062	c.1636C>G	c.(1636-1638)Ctg>Gtg	p.L546V	TNPO1_ENST00000454282.1_Missense_Mutation_p.L496V|TNPO1_ENST00000523768.1_Missense_Mutation_p.L496V|TNPO1_ENST00000506351.2_Missense_Mutation_p.L538V	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	546					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.L538V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCATAAGAACCTGCTCATTCT	0.368																																																1	Substitution - Missense(1)	kidney(1)											114	108	110					5																	72185719		2203	4300	6503	SO:0001583	missense	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1636C>G	5.37:g.72185719C>G	ENSP00000336712:p.Leu546Val		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364984	0.61513	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.18	0.157	0.14915	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	M	0.87617	2.895	0.80722	D	1	D;D	0.65815	0.995;0.983	P;P	0.62435	0.902;0.749	T	0.77710	-0.2486	10	0.87932	D	0	-1.7614	9.2634	0.37625	0.0:0.559:0.0:0.441	.	496;546	Q92973-3;Q92973	.;TNPO1_HUMAN	V	546;496;496;538;57	ENSP00000336712:L546V;ENSP00000398524:L496V;ENSP00000428899:L496V;ENSP00000425118:L538V	ENSP00000336712:L546V	L	+	1	2	TNPO1	72221475	0.999000	0.42202	0.993000	0.49108	0.995000	0.86356	0.919000	0.28692	-0.197000	0.10350	-0.145000	0.13849	CTG		0.368	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		G	72185719	C	G	72185719	3	3	182	1	0	0	0	0	1	0	0	0	16340	680	24	4	1690	4	TNPO1	5	72185719	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	5705779	72185719	108729541	24	10660											
ATP6AP1L	92270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	81614047	81614047	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:81614047G>T	ENST00000380167.4	+	10	1928	c.603G>T	c.(601-603)aaG>aaT	p.K201N	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.K201N|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	201					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.K201N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCGAAGAGAAGGAGCTGCTGA	0.527																																																1	Substitution - Missense(1)	kidney(1)											55	62	60					5																	81614047		2203	4300	6503	SO:0001583	missense	92270			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.603G>T	5.37:g.81614047G>T	ENSP00000369513:p.Lys201Asn			Missense_Mutation	SNP	ENST00000380167.4	37	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333413	0.41297	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.54	4.66	0.58398	.	0.059731	0.64402	D	0.000004	T	0.72137	0.3423	M	0.75447	2.3	0.38070	D	0.936333	D	0.76494	0.999	D	0.72075	0.976	T	0.74861	-0.3520	9	0.46703	T	0.11	.	10.7257	0.46066	0.172:0.0:0.828:0.0	.	201	Q52LC2	VAS1L_HUMAN	N	201	.	ENSP00000369513:K201N	K	+	3	2	ATP6AP1L	81649803	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	2.967000	0.49216	2.601000	0.87937	0.563000	0.77884	AAG		0.527	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		T	81614047	G	T	81614047	3	4	182	1	0	0	0	0	1	0	0	0	1166	991	35	4	617	4	ATP6AP1L	5	81614047	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08	9428328	81614047	99301213	25	10661											
MYOT	9499	broad.mit.edu;hgsc.bcm.edu	37	5	137213306	137213306	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:137213306C>T	ENST00000239926.4	+	4	1003	c.629C>T	c.(628-630)tCg>tTg	p.S210L	MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000515645.1_Missense_Mutation_p.S95L|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.S26L	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	210					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.S210L(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCACAAGACTCGCAGGTAAGT	0.388																																																1	Substitution - Missense(1)	kidney(1)											93	94	93					5																	137213306		2203	4300	6503	SO:0001583	missense	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.629C>T	5.37:g.137213306C>T	ENSP00000239926:p.Ser210Leu		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	9.100	1.003884	0.19199	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68765	-0.31;-0.19;-0.35	5.7	4.83	0.62350	.	0.109441	0.40385	N	0.001117	T	0.45175	0.1329	N	0.14661	0.345	0.44424	D	0.99734	B	0.31837	0.342	B	0.17098	0.017	T	0.39187	-0.9626	10	0.15066	T	0.55	.	14.9625	0.71166	0.0:0.9312:0.0:0.0688	.	210	Q9UBF9	MYOTI_HUMAN	L	210;26;95	ENSP00000239926:S210L;ENSP00000391185:S26L;ENSP00000426281:S95L	ENSP00000239926:S210L	S	+	2	0	MYOT	137241205	0.409000	0.25368	0.989000	0.46669	0.175000	0.22909	1.831000	0.39141	1.409000	0.46915	0.591000	0.81541	TCG		0.388	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		T	137213306	C	T	137213306	3	4	182	1	0	0	0	0	1	0	0	0	10096	893	31	1	639	1	MYOT	5	137213306	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	55599259	137213306	43701954	26	10662											
KIF4B	285643	broad.mit.edu;hgsc.bcm.edu	37	5	154396598	154396598	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:154396598G>T	ENST00000435029.4	+	1	3339	c.3179G>T	c.(3178-3180)gGt>gTt	p.G1060V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1060	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.G1060V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			gatggtgatggtgatggcgac	0.458																																																2	Substitution - Missense(2)	kidney(2)											117	109	112					5																	154396598		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3179G>T	5.37:g.154396598G>T	ENSP00000387875:p.Gly1060Val			Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	G	7.320	0.616855	0.14129	.	.	ENSG00000226650	ENST00000435029	T	0.69175	-0.38	1.42	1.42	0.22433	.	.	.	.	.	T	0.40862	0.1134	N	0.08118	0	0.21878	N	0.999498	B	0.32968	0.392	B	0.32624	0.149	T	0.23547	-1.0185	9	0.25106	T	0.35	.	6.2465	0.20820	0.0:0.0:1.0:0.0	.	1060	Q2VIQ3	KIF4B_HUMAN	V	1060	ENSP00000387875:G1060V	ENSP00000387875:G1060V	G	+	2	0	KIF4B	154376791	0.002000	0.14202	0.314000	0.25224	0.717000	0.41224	-1.060000	0.03475	1.074000	0.40909	0.462000	0.41574	GGT		0.458	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			T	154396598	G	T	154396598	3	4	182	1	0	0	0	0	1	0	0	0	8306	1261	44	4	3181	4	KIF4B	5	154396598	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08	17183292	154396598	26518662	27	10663											
UIMC1	51720	broad.mit.edu;hgsc.bcm.edu	37	5	176402397	176402397	+	Splice_Site	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:176402397G>A	ENST00000377227.4	-	3	364	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	UIMC1_ENST00000511320.1_Splice_Site_p.Q78*|UIMC1_ENST00000377219.2_Splice_Site_p.Q78*|UIMC1_ENST00000506128.1_Splice_Site_p.Q78*			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	78	Necessary for transcriptional repression.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.Q78*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAAACATACGTGCGATTTTT	0.358																																																1	Substitution - Nonsense(1)	kidney(1)											199	172	181					5																	176402397		2203	4299	6502	SO:0001630	splice_region_variant	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.232+1C>T	5.37:g.176402397G>A			A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Nonsense_Mutation	SNP	ENST00000377227.4	37	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358955	0.82353	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000509236;ENST00000507513	.	.	.	5.53	5.53	0.82687	.	0.107877	0.41823	D	0.000816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.1302	17.656	0.88178	0.0:0.0:1.0:0.0	.	.	.	.	X	78	.	.	Q	-	1	0	UIMC1	176335003	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.690000	0.68241	2.597000	0.87782	0.563000	0.77884	CAG		0.358	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290	Nonsense_Mutation	A	176402397	G	A	176402397	5	1	182	1	0	0	0	0	0	0	1	0	16976	1159	40	1	1979	1	UIMC1	5	176402397	Splice_Site	SNP	G	TCGA-B0-5097-01A-01D-1421-08	22005799	176402397	4512863	28	10664											
EYS	346007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	66205260	66205260	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr6:66205260T>A	ENST00000370621.3	-	4	570	c.44A>T	c.(43-45)cAc>cTc	p.H15L	EYS_ENST00000370618.3_Missense_Mutation_p.H15L|EYS_ENST00000342421.5_Missense_Mutation_p.H15L|EYS_ENST00000503581.1_Missense_Mutation_p.H15L|EYS_ENST00000370616.2_Missense_Mutation_p.H15L|EYS_ENST00000393380.2_Missense_Mutation_p.H15L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	15					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.H15L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GAAAGAGCTGTGAAAAACCAT	0.373																																																2	Substitution - Missense(2)	kidney(2)											67	67	67					6																	66205260		2203	4300	6503	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.44A>T	6.37:g.66205260T>A	ENSP00000359655:p.His15Leu		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	T	14.11	2.438360	0.43326	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89939	-1.7;-1.68;-1.68;-2.59;-2.55;-2.55	4.76	2.35	0.29111	.	.	.	.	.	T	0.65144	0.2663	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19331	0.021;0.021;0.035	B;B;B	0.13407	0.009;0.009;0.007	T	0.58081	-0.7699	9	0.54805	T	0.06	.	7.1396	0.25548	0.0:0.1845:0.0:0.8155	.	15;15;15	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	15	ENSP00000424243:H15L;ENSP00000359655:H15L;ENSP00000359650:H15L;ENSP00000377042:H15L;ENSP00000341818:H15L;ENSP00000359652:H15L	ENSP00000341818:H15L	H	-	2	0	EYS	66261981	0.031000	0.19500	0.001000	0.08648	0.002000	0.02628	1.565000	0.36386	0.271000	0.22005	-0.326000	0.08463	CAC		0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	66205260	T	A	66205260	3	1	182	1	0	0	0	0	1	0	0	0	5334	1696	59	5	9512	5	EYS	6	66205260	Missense_Mutation	SNP	T	TCGA-B0-5097-01A-01D-1421-08		66205260	104909807	29	10665											
SNAP91	9892	broad.mit.edu;ucsc.edu	37	6	84292066	84292066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr6:84292066delC	ENST00000439399.2	-	23	2340	c.2024delG	c.(2023-2025)ggtfs	p.G675fs	SNAP91_ENST00000520213.1_Frame_Shift_Del_p.G368fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.G675fs|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.G675fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.G368fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.G645fs|SNAP91_ENST00000428679.2_Frame_Shift_Del_p.G675fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.G675fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.G675fs|SNAP91_ENST00000519133.1_5'Flank	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	675					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CATGAAAGAACCCCCAAATCC	0.408																																																0													53	54	53					6																	84292066		1900	4121	6021	SO:0001589	frameshift_variant	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2024delG	6.37:g.84292066delC	ENSP00000400459:p.Gly675fs		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Frame_Shift_Del	DEL	ENST00000439399.2	37	CCDS47455.1																																																																																				0.408	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			-	84292066	C	-	84292066	7	5	182	1	0	1	0	1	0	0	0	0	14839	507	18	0	727	0	SNAP91	6	84292066	Frame_Shift_Del	DEL	C	TCGA-B0-5097-01A-01D-1421-08	18086806	84292066	86823001	30	10666											
TCF21	6943	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	134210722	134210722	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr6:134210722C>A	ENST00000367882.4	+	1	447	c.187C>A	c.(187-189)Ccc>Acc	p.P63T	RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.P63T	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	63					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P63T(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GAGGAAGGCGCCCACCAAGAA	0.672																																																1	Substitution - Missense(1)	kidney(1)											26	35	32					6																	134210722		2203	4300	6503	SO:0001583	missense	6943			AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"Basic helix-loop-helix proteins"	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.187C>A	6.37:g.134210722C>A	ENSP00000356857:p.Pro63Thr		E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605575	0.28623	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96685	-4.09;-4.09	4.79	3.9	0.45041	Helix-loop-helix DNA-binding (1);	0.149054	0.45126	D	0.000387	D	0.85106	0.5621	N	0.25647	0.755	0.40799	D	0.983328	B	0.02656	0.0	B	0.01281	0.0	T	0.78959	-0.1998	10	0.14656	T	0.56	-15.6836	9.288	0.37769	0.0:0.7726:0.1472:0.0802	.	63	O43680	TCF21_HUMAN	T	63	ENSP00000356857:P63T;ENSP00000237316:P63T	ENSP00000237316:P63T	P	+	1	0	TCF21	134252415	0.999000	0.42202	1.000000	0.80357	0.919000	0.55068	1.074000	0.30703	0.958000	0.37956	0.313000	0.20887	CCC		0.672	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		A	134210722	C	A	134210722	3	1	182	1	0	0	0	0	1	0	0	0	15696	739	26	4	189	4	TCF21	6	134210722	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	49918656	134210722	36904345	31	10667											
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21913067	21913067	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr7:21913067C>A	ENST00000409508.3	+	74	12174	c.12143C>A	c.(12142-12144)cCc>cAc	p.P4048H	DNAH11_ENST00000328843.6_Missense_Mutation_p.P4055H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4055	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P4055H(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTAATGAACCCCCAACAGGG	0.473									Kartagener syndrome																																							1	Substitution - Missense(1)	kidney(1)											71	68	69					7																	21913067		1918	4154	6072	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12143C>A	7.37:g.21913067C>A	ENSP00000475939:p.Pro4048His		Q9UJ82	Silent	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	28.6	4.931477	0.92389	.	.	ENSG00000105877	ENST00000328843	T	0.15603	2.41	5.78	5.78	0.91487	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43972	-0.9358	9	0.87932	D	0	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	4055	Q96DT5	DYH11_HUMAN	H	4055	ENSP00000330671:P4055H	ENSP00000330671:P4055H	P	+	2	0	DNAH11	21879592	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	7.720000	0.84759	2.729000	0.93468	0.650000	0.86243	CCC		0.473	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		A	21913067	C	A	21913067	3	1	182	1	0	0	0	0	1	0	0	0	4601	623	22	4	12459	4	DNAH11	7	21913067	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08		21913067	137225596	32	10668											
STK31	56164	broad.mit.edu	37	7	23802525	23802525	+	Missense_Mutation	SNP	C	C	T	rs199698256		TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr7:23802525C>T	ENST00000355870.3	+	11	1518	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	STK31_ENST00000354639.3_Missense_Mutation_p.R444C|STK31_ENST00000428484.1_Missense_Mutation_p.R444C|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.R467C	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	467						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.R467C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTAATAAACGCTTAAAAAC	0.289																																																1	Substitution - Missense(1)	kidney(1)						C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	64	65	65		1330,1399,1330	5.2	1	7		65	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense	STK31	NM_001122833.1,NM_031414.3,NM_032944.2	180,180,180	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	444/997,467/1020,444/997	23802525	2,13002	2203	4299	6502	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1399C>T	7.37:g.23802525C>T	ENSP00000348132:p.Arg467Cys		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875565	0.72180	2.27E-4	1.16E-4	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.10177	-1.0641	10	0.87932	D	0	-4.5156	17.9644	0.89096	0.0:1.0:0.0:0.0	.	467;467	B4DZ06;Q9BXU1	.;STK31_HUMAN	C	467;467;444;444	ENSP00000348132:R467C;ENSP00000411852:R467C;ENSP00000346660:R444C;ENSP00000406146:R444C	ENSP00000346660:R444C	R	+	1	0	STK31	23769050	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.530000	0.60595	2.610000	0.88304	0.585000	0.79938	CGC		0.289	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		T	23802525	C	T	23802525	3	4	182	1	0	0	0	0	1	0	0	0	15301	536	19	1	1441	1	STK31	7	23802525	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	1889458	23802525	135336138	33	10669											
HIP1	3092	broad.mit.edu	37	7	75182782	75182782	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr7:75182782G>T	ENST00000336926.6	-	22	2291	c.2265C>A	c.(2263-2265)aaC>aaA	p.N755K	HIP1_ENST00000434438.2_Missense_Mutation_p.N755K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	755					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.N757K(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTCAGGCAGTTCCTCATGG	0.562			T	PDGFRB	CMML																																		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	1	Substitution - Missense(1)	kidney(1)											189	155	167					7																	75182782		2203	4300	6503	SO:0001583	missense	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2265C>A	7.37:g.75182782G>T	ENSP00000336747:p.Asn755Lys		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	g	6.013	0.370771	0.11409	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14266	2.74;2.52	5.04	3.12	0.35913	.	0.768186	0.13023	N	0.419922	T	0.08935	0.0221	L	0.33485	1.01	0.25163	N	0.990337	B;B	0.11235	0.004;0.002	B;B	0.14023	0.01;0.001	T	0.38887	-0.9640	10	0.06891	T	0.86	-7.4657	8.099	0.30846	0.0878:0.1589:0.7533:0.0	.	755;755	E7ES17;O00291	.;HIP1_HUMAN	K	755	ENSP00000336747:N755K;ENSP00000410300:N755K	ENSP00000336747:N755K	N	-	3	2	HIP1	75020718	0.995000	0.38212	0.829000	0.32907	0.987000	0.75469	1.627000	0.37050	1.297000	0.44761	0.650000	0.86243	AAC		0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		T	75182782	G	T	75182782	3	4	182	1	0	0	0	0	1	0	0	0	7116	1020	36	4	888	4	HIP1	7	75182782	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08	51380257	75182782	83955881	34	10670											
ZNF655	79027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99170286	99170286	+	Silent	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr7:99170286G>A	ENST00000394163.2	+	3	738	c.555G>A	c.(553-555)caG>caA	p.Q185Q	ZNF655_ENST00000493277.1_Silent_p.Q220Q|ZNF655_ENST00000252713.4_Silent_p.Q185Q|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000424881.1_Silent_p.Q220Q	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	185					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q185Q(1)|p.Q220Q(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGGATTTTCAGAGTAGTGAAT	0.378																																																2	Substitution - coding silent(2)	kidney(2)											46	47	47					7																	99170286		2203	4299	6502	SO:0001819	synonymous_variant	79027			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.555G>A	7.37:g.99170286G>A			A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Silent	SNP	ENST00000394163.2	37	CCDS5669.1																																																																																				0.378	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		A	99170286	G	A	99170286	2	1	182	1	0	0	0	0	0	0	0	1	18073	933	33	2		2	ZNF655	7	99170286	Silent	SNP	G	TCGA-B0-5097-01A-01D-1421-08	23987504	99170286	59968377	35	10671											
MLL3	58508	hgsc.bcm.edu;ucsc.edu	37	7	152012275	152012275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr7:152012275delT	ENST00000262189.6	-	4	756	c.538delA	c.(538-540)accfs	p.T180fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.T180fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	180					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTCTCATAGGTTCCATTGCTG	0.373																																																0													261	228	239					7																	152012275		2202	4300	6502	SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.538delA	7.37:g.152012275delT	ENSP00000262189:p.Thr180fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	CCDS5931.1																																																																																				0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	152012275	T	-	152012275	7	5	182	1	0	1	0	1	0	0	0	0	9624	1725	60	0	14421	0	MLL3	7	152012275	Frame_Shift_Del	DEL	T	TCGA-B0-5097-01A-01D-1421-08	52841989	152012275	7126388	36	10672											
CSPP1	79848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	68084731	68084731	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr8:68084731A>T	ENST00000262210.5	+	23	2925	c.2894A>T	c.(2893-2895)aAg>aTg	p.K965M	CSPP1_ENST00000412460.1_Missense_Mutation_p.K620M|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1000					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.K965M(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAGTCCCCTAAGGGCTTAGAC	0.398																																																1	Substitution - Missense(1)	kidney(1)											76	77	77					8																	68084731		1848	4097	5945	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2894A>T	8.37:g.68084731A>T	ENSP00000262210:p.Lys965Met		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314450	0.81358	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.39406	1.08;1.12;1.12	5.62	5.62	0.85841	.	0.364252	0.28403	N	0.015465	T	0.62708	0.2450	M	0.64997	1.995	0.40361	D	0.979241	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.999	T	0.66677	-0.5863	10	0.72032	D	0.01	-25.7584	15.5002	0.75691	1.0:0.0:0.0:0.0	.	123;620;965;1000	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	M	965;1000;620;620	ENSP00000262210:K965M;ENSP00000415782:K620M;ENSP00000430092:K620M	ENSP00000262210:K965M	K	+	2	0	CSPP1	68247285	1.000000	0.71417	0.932000	0.37286	0.925000	0.55904	2.925000	0.48884	2.129000	0.65627	0.533000	0.62120	AAG		0.398	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		T	68084731	A	T	68084731	3	4	182	1	0	0	0	0	1	0	0	0	3964	72	3	5	3097	5	CSPP1	8	68084731	Missense_Mutation	SNP	A	TCGA-B0-5097-01A-01D-1421-08		68084731	78279291	37	10673											
CYP11B2	1585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	143994011	143994011	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr8:143994011A>T	ENST00000323110.2	-	8	1335	c.1333T>A	c.(1333-1335)Ttt>Att	p.F445I		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	445					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.F445I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CGCATGCCAAAGCCAAAGGGC	0.677									Familial Hyperaldosteronism type I																																							1	Substitution - Missense(1)	kidney(1)											68	77	74					8																	143994011		2203	4300	6503	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1333T>A	8.37:g.143994011A>T	ENSP00000325822:p.Phe445Ile		B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	18.30	3.593349	0.66219	.	.	ENSG00000179142	ENST00000323110	T	0.68903	-0.36	3.52	3.52	0.40303	Cytochrome P450, conserved site (1);	0.000000	0.52532	D	0.000080	T	0.75184	0.3815	L	0.53671	1.685	0.45005	D	0.998029	D	0.89917	1.0	D	0.87578	0.998	T	0.75596	-0.3263	10	0.52906	T	0.07	.	10.3128	0.43718	1.0:0.0:0.0:0.0	.	445	P19099	C11B2_HUMAN	I	445	ENSP00000325822:F445I	ENSP00000325822:F445I	F	-	1	0	CYP11B2	143991013	1.000000	0.71417	0.999000	0.59377	0.354000	0.29330	5.464000	0.66719	1.578000	0.49821	0.460000	0.39030	TTT		0.677	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			T	143994011	A	T	143994011	3	4	182	1	0	0	0	0	1	0	0	0	4148	72	3	5	186	5	CYP11B2	8	143994011	Missense_Mutation	SNP	A	TCGA-B0-5097-01A-01D-1421-08	75909280	143994011	2370011	38	10674											
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113241933	113241933	+	Silent	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr9:113241933C>T	ENST00000401783.2	-	13	2805	c.2469G>A	c.(2467-2469)gaG>gaA	p.E823E	SVEP1_ENST00000302728.8_Silent_p.E823E|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.E800E|SVEP1_ENST00000374461.1_Silent_p.E800E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	823					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.E823E(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCAGGGTCGTCTCAAATGCTT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											251	242	244					9																	113241933		1849	4092	5941	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2469G>A	9.37:g.113241933C>T			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.388	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113241933	C	T	113241933	2	4	182	1	0	0	0	0	0	0	0	1	15425	912	32	2		2	SVEP1	9	113241933	Silent	SNP	C	TCGA-B0-5097-01A-01D-1421-08		113241933	27971498	39	10675											
ALAD	210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116154422	116154422	+	Silent	SNP	G	G	T	rs116243288	byFrequency	TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr9:116154422G>T	ENST00000409155.3	-	3	337	c.141C>A	c.(139-141)atC>atA	p.I47I	ALAD_ENST00000482001.1_5'UTR|ALAD_ENST00000277315.5_Intron	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	47					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)	p.I76I(1)|p.I47I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GGAGGCTGGTGATAGGCTGTA	0.622																																																2	Substitution - coding silent(2)	kidney(2)											57	54	55					9																	116154422		2203	4300	6503	SO:0001819	synonymous_variant	210			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"porphobilinogen synthase"	125270	"aminolevulinate, delta-, dehydratase"			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.141C>A	9.37:g.116154422G>T			A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Silent	SNP	ENST00000409155.3	37	CCDS6794.2																																																																																				0.622	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		T	116154422	G	T	116154422	2	4	182	1	0	0	0	0	0	0	0	1	483	1280	45	4		4	ALAD	9	116154422	Silent	SNP	G	TCGA-B0-5097-01A-01D-1421-08	2912489	116154422	25059009	40	10676											
C11orf84	144097	broad.mit.edu	37	11	63586459	63586459	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr11:63586459G>A	ENST00000294244.4	+	5	1218	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	307								p.E307K(1)		endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TCCCCGGGCGGAGAGCCCCTC	0.647																																																1	Substitution - Missense(1)	kidney(1)											26	30	29					11																	63586459		2199	4298	6497	SO:0001583	missense	144097			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.919G>A	11.37:g.63586459G>A	ENSP00000294244:p.Glu307Lys		Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	CCDS31594.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.56|12.56	1.973666|1.973666	0.34848|0.34848	.|.	.|.	ENSG00000168005|ENSG00000168005	ENST00000294244;ENST00000540893|ENST00000535820	T|.	0.47177|.	0.85|.	4.67|4.67	-0.339|-0.339	0.12647|0.12647	.|.	0.828985|.	0.10877|.	N|.	0.624204|.	T|T	0.38241|0.38241	0.1033|0.1033	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B|.	0.19200|.	0.034|.	B|.	0.25291|.	0.059|.	T|T	0.35325|0.35325	-0.9793|-0.9793	10|5	0.87932|.	D|.	0|.	-4.9371|-4.9371	8.4049|8.4049	0.32608|0.32608	0.1026:0.5823:0.3151:0.0|0.1026:0.5823:0.3151:0.0	.|.	307|.	Q9BUA3|.	CK084_HUMAN|.	K|E	307;82|14	ENSP00000294244:E307K|.	ENSP00000294244:E307K|.	E|G	+|+	1|2	0|0	C11orf84|C11orf84	63343035|63343035	0.044000|0.044000	0.20184|0.20184	0.009000|0.009000	0.14445|0.14445	0.084000|0.084000	0.17831|0.17831	0.089000|0.089000	0.15002|0.15002	0.116000|0.116000	0.18110|0.18110	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.647	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		A	63586459	G	A	63586459	3	1	182	1	0	0	0	0	1	0	0	0	1669	1175	41	2	937	2	C11orf84	11	63586459	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08		63586459	71420057	41	10677											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108202714	108202714	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr11:108202714A>T	ENST00000452508.2	+	53	7927	c.7738A>T	c.(7738-7740)Aga>Tga	p.R2580*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Nonsense_Mutation_p.R2580*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2580					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R2580*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGTAGCCAGAAGAAGCAGAAT	0.363			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	2	Substitution - Nonsense(2)	kidney(2)											88	87	87					11																	108202714		2201	4298	6499	SO:0001587	stop_gained	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7738A>T	11.37:g.108202714A>T	ENSP00000388058:p.Arg2580*		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	48	14.434443	0.99795	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.44	5.44	0.79542	.	0.186382	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5069	0.50472	0.8502:0.1498:0.0:0.0	.	.	.	.	X	2580	.	ENSP00000278616:R2580X	R	+	1	2	ATM	107707924	1.000000	0.71417	0.996000	0.52242	0.344000	0.29017	4.799000	0.62517	2.066000	0.61787	0.443000	0.29094	AGA		0.363	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108202714	A	T	108202714	4	4	182	1	0	0	0	0	0	1	0	0	1109	64	3	5	7940	5	ATM	11	108202714	Nonsense_Mutation	SNP	A	TCGA-B0-5097-01A-01D-1421-08	44616255	108202714	26803802	42	10678											
NR1H4	9971	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100930297	100930297	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr12:100930297C>G	ENST00000551379.1	+	5	798	c.770C>G	c.(769-771)aCt>aGt	p.T257S	NR1H4_ENST00000549996.1_Missense_Mutation_p.T196S|NR1H4_ENST00000548884.1_Missense_Mutation_p.T243S|NR1H4_ENST00000188403.7_Missense_Mutation_p.T253S|NR1H4_ENST00000392986.3_Missense_Mutation_p.T247S			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	257	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T243S(1)|p.T257S(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TAGGAGAAAACTGAACTCACC	0.353																																																2	Substitution - Missense(2)	kidney(2)											54	51	52					12																	100930297		2203	4297	6500	SO:0001583	missense	9971			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.770C>G	12.37:g.100930297C>G	ENSP00000447149:p.Thr257Ser		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	7.660	0.684776	0.14973	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.92545	-2.91;-2.95;-3.06;-2.95;-2.92	5.87	3.8	0.43715	.	0.479232	0.25222	N	0.032238	T	0.78610	0.4310	N	0.11427	0.14	0.29916	N	0.823178	P;B;B;B;B	0.34800	0.469;0.002;0.185;0.116;0.003	B;B;B;B;B	0.35510	0.204;0.005;0.154;0.073;0.011	T	0.72320	-0.4329	10	0.07813	T	0.8	.	4.5621	0.12165	0.229:0.6143:0.0:0.1567	.	196;257;253;247;243	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	S	243;247;196;257;253	ENSP00000448506:T243S;ENSP00000376712:T247S;ENSP00000448978:T196S;ENSP00000447149:T257S;ENSP00000188403:T253S	ENSP00000188403:T253S	T	+	2	0	NR1H4	99454428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.579000	0.53900	1.451000	0.47736	0.591000	0.81541	ACT		0.353	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		G	100930297	C	G	100930297	3	3	182	1	0	0	0	0	1	0	0	0	10621	565	20	4	746	4	NR1H4	12	100930297	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08		100930297	32921598	43	10679											
MTUS2	23281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	29600300	29600300	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr13:29600300C>A	ENST00000431530.3	+	1	1553	c.1495C>A	c.(1495-1497)Cct>Act	p.P499T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	489						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.P499T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCCCTGGACCCTCAAAGTGG	0.502																																																1	Substitution - Missense(1)	kidney(1)											79	85	83					13																	29600300		1980	4136	6116	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1495C>A	13.37:g.29600300C>A	ENSP00000392057:p.Pro499Thr		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	13.92	2.380509	0.42207	.	.	ENSG00000132938	ENST00000431530	T	0.12774	2.65	5.92	2.05	0.26809	.	1.024840	0.07769	N	0.951449	T	0.13927	0.0337	L	0.57536	1.79	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.33317	-0.9873	9	.	.	.	.	5.1896	0.15203	0.4139:0.4292:0.0:0.1569	.	489	Q5JR59	MTUS2_HUMAN	T	499	ENSP00000392057:P499T	.	P	+	1	0	MTUS2	28498300	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.209000	0.17435	0.804000	0.34136	0.655000	0.94253	CCT		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		A	29600300	C	A	29600300	3	1	182	1	0	0	0	0	1	0	0	0	9968	623	22	4	1497	4	MTUS2	13	29600300	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08		29600300	85569578	44	10680											
COG6	57511	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	40268842	40268842	+	Silent	SNP	A	A	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr13:40268842A>G	ENST00000455146.3	+	12	1196	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	COG6_ENST00000416691.1_Silent_p.K382K	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	382					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.K382K(1)		NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATCTCCTCAAATTTTATCACC	0.308																																																1	Substitution - coding silent(1)	kidney(1)											41	49	47					13																	40268842		2199	4267	6466	SO:0001819	synonymous_variant	57511			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1146A>G	13.37:g.40268842A>G			Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Silent	SNP	ENST00000455146.3	37	CCDS9370.1																																																																																				0.308	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			G	40268842	A	G	40268842	2	3	182	1	0	0	0	0	0	0	0	1	3664	98	4	3		3	COG6	13	40268842	Silent	SNP	A	TCGA-B0-5097-01A-01D-1421-08	10668542	40268842	74901036	45	10681											
SPRY2	10253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	80911095	80911095	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr13:80911095C>T	ENST00000377102.1	-	2	1723	c.746G>A	c.(745-747)tGt>tAt	p.C249Y	SPRY2_ENST00000540649.1_Missense_Mutation_p.C249Y|SPRY2_ENST00000377104.3_Missense_Mutation_p.C249Y			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	249	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)	p.C249Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		TCGTGTACAACAGTGAGACTG	0.478																																																1	Substitution - Missense(1)	kidney(1)											144	120	128					13																	80911095		2203	4300	6503	SO:0001583	missense	10253			AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.746G>A	13.37:g.80911095C>T	ENSP00000366306:p.Cys249Tyr		B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782946	0.70222	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.64260	-0.09;-0.09;-0.09	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	M	0.84082	2.675	0.80722	D	1	D	0.62365	0.991	D	0.77557	0.99	D	0.84097	0.0393	10	0.87932	D	0	.	19.4196	0.94715	0.0:1.0:0.0:0.0	.	249	O43597	SPY2_HUMAN	Y	249	ENSP00000366308:C249Y;ENSP00000366306:C249Y;ENSP00000439027:C249Y	ENSP00000366306:C249Y	C	-	2	0	SPRY2	79809096	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.599000	0.87857	0.561000	0.74099	TGT		0.478	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			T	80911095	C	T	80911095	3	4	182	1	0	0	0	0	1	0	0	0	15111	478	17	2	205	2	SPRY2	13	80911095	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	40642253	80911095	34258783	46	10682											
FLVCR2	55640	broad.mit.edu;hgsc.bcm.edu	37	14	76045408	76045408	+	Silent	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr14:76045408C>A	ENST00000238667.4	+	1	449	c.93C>A	c.(91-93)ccC>ccA	p.P31P	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	31	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)	p.P31P(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGGTCCATCCCAGCGTCTCGG	0.642																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											100	103	102					14																	76045408		2203	4300	6503	SO:0001819	synonymous_variant	55640			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.93C>A	14.37:g.76045408C>A			B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	CCDS9844.1																																																																																				0.642	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		A	76045408	C	A	76045408	2	1	182	1	0	0	0	0	0	0	0	1	5948	581	21	4		4	FLVCR2	14	76045408	Silent	SNP	C	TCGA-B0-5097-01A-01D-1421-08		76045408	31304132	47	10683											
RABEP2	79874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28916276	28916276	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr16:28916276G>C	ENST00000358201.4	-	13	2286	c.1698C>G	c.(1696-1698)atC>atG	p.I566M	RABEP2_ENST00000544477.1_Missense_Mutation_p.I495M|RABEP2_ENST00000357573.6_Missense_Mutation_p.I530M	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	566					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.I566M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGGTGTCCTTGATGTCCCTGA	0.637																																					Pancreas(66;639 1284 10093 31061 49099)											1	Substitution - Missense(1)	kidney(1)											57	66	63					16																	28916276		2125	4231	6356	SO:0001583	missense	79874			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1698C>G	16.37:g.28916276G>C	ENSP00000350934:p.Ile566Met			Missense_Mutation	SNP	ENST00000358201.4	37	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820477	0.32145	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.51817	0.69;0.74;0.72	4.42	2.25	0.28309	.	0.390538	0.23266	N	0.050066	T	0.40522	0.1120	L	0.36672	1.1	0.27600	N	0.948994	P;P;P	0.52061	0.622;0.95;0.918	B;P;P	0.50082	0.426;0.63;0.472	T	0.28902	-1.0029	10	0.87932	D	0	-3.3826	3.9976	0.09566	0.1282:0.0:0.6188:0.253	.	495;530;566	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	M	566;530;495	ENSP00000350934:I566M;ENSP00000350186:I530M;ENSP00000442798:I495M	ENSP00000350186:I530M	I	-	3	3	RABEP2	28823777	0.988000	0.35896	1.000000	0.80357	0.203000	0.24098	1.017000	0.29989	1.053000	0.40415	0.436000	0.28706	ATC		0.637	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		C	28916276	G	C	28916276	3	2	182	1	0	0	0	0	1	0	0	0	12968	1280	45	4	15	4	RABEP2	16	28916276	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08		28916276	61438477	48	10684											
SALL1	6299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	51173795	51173795	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr16:51173795C>T	ENST00000251020.4	-	2	2371	c.2338G>A	c.(2338-2340)Gtc>Atc	p.V780I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.V683I	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	780					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V780I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCTGCAGGACCACAGCGTTC	0.557																																					GBM(103;1352 1446 1855 4775 8890)											1	Substitution - Missense(1)	kidney(1)											96	98	97					16																	51173795		2198	4300	6498	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2338G>A	16.37:g.51173795C>T	ENSP00000251020:p.Val780Ile		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230101	0.79688	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.76578	-1.03;-1.03	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	N	0.12853	0.265	0.80722	D	1	B	0.28713	0.22	B	0.36666	0.23	T	0.62784	-0.6781	10	0.18276	T	0.48	.	18.3917	0.90485	0.0:1.0:0.0:0.0	.	780	Q9NSC2	SALL1_HUMAN	I	780;683;744	ENSP00000251020:V780I;ENSP00000407914:V683I	ENSP00000251020:V780I	V	-	1	0	SALL1	49731296	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.818000	0.86416	2.338000	0.79540	0.298000	0.19748	GTC		0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		T	51173795	C	T	51173795	3	4	182	1	0	0	0	0	1	0	0	0	13816	507	18	2	1644	2	SALL1	16	51173795	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	22257519	51173795	39180958	49	10685											
SMARCE1	6605	broad.mit.edu;hgsc.bcm.edu	37	17	38798730	38798730	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr17:38798730G>A	ENST00000348513.6	-	4	913	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S	SMARCE1_ENST00000377808.4_Intron|SMARCE1_ENST00000431889.2_Missense_Mutation_p.P27S|SMARCE1_ENST00000580419.1_Intron|KRT222_ENST00000476049.1_Intron|SMARCE1_ENST00000578044.1_Intron|SMARCE1_ENST00000544009.1_Intron|SMARCE1_ENST00000400122.3_Intron|SMARCE1_ENST00000474246.1_Missense_Mutation_p.P45S	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	45	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)	p.P45S(1)		large_intestine(1)	1		Breast(137;0.000812)				TTGGTGCCCGGGTTCCCTCCC	0.488																																																1	Substitution - Missense(1)	kidney(1)											115	109	111					17																	38798730		2203	4300	6503	SO:0001583	missense	6605			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.133C>T	17.37:g.38798730G>A	ENSP00000323967:p.Pro45Ser		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403224	0.25291	.	.	ENSG00000073584	ENST00000348513;ENST00000431889	T;T	0.75367	-0.93;-0.93	5.76	5.76	0.90799	.	0.112528	0.64402	D	0.000011	T	0.52821	0.1758	N	0.12182	0.205	0.80722	D	1	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.004	T	0.50083	-0.8869	10	0.11485	T	0.65	.	10.0936	0.42462	0.0715:0.1382:0.7903:0.0	.	45;45	Q969G3-2;Q969G3	.;SMCE1_HUMAN	S	45;27	ENSP00000323967:P45S;ENSP00000445370:P27S	ENSP00000323967:P45S	P	-	1	0	SMARCE1	36052256	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.972000	0.56838	2.882000	0.98803	0.655000	0.94253	CCG		0.488	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		A	38798730	G	A	38798730	3	1	182	1	0	0	0	0	1	0	0	0	14786	1232	43	2	1134	2	SMARCE1	17	38798730	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08		38798730	42396480	50	10686											
SDK2	54549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	71357832	71357832	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr17:71357832G>T	ENST00000392650.3	-	39	5458	c.5458C>A	c.(5458-5460)Ccc>Acc	p.P1820T	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.P1801T	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1820	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P1820T(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTTCTCCGGGGCCCGTGGTG	0.637																																																1	Substitution - Missense(1)	kidney(1)											95	77	83					17																	71357832		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5458C>A	17.37:g.71357832G>T	ENSP00000376421:p.Pro1820Thr		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728516	0.89390	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.34072	1.38;1.38;1.38	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61426	-0.7065	10	0.39692	T	0.17	.	18.5556	0.91083	0.0:0.0:1.0:0.0	.	1820;1820;1801	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	T	1444;1820;1801;977;1820;161	ENSP00000376421:P1820T;ENSP00000373378:P1801T;ENSP00000407098:P977T	ENSP00000324967:P1820T	P	-	1	0	SDK2	68869427	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.805000	0.99149	2.369000	0.80426	0.561000	0.74099	CCC		0.637	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		T	71357832	G	T	71357832	3	4	182	1	0	0	0	0	1	0	0	0	13975	1232	43	4	1088	4	SDK2	17	71357832	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08	32559102	71357832	9837378	51	10687											
TYK2	7297	broad.mit.edu;ucsc.edu	37	19	10463680	10463680	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr19:10463680T>G	ENST00000525621.1	-	22	3603	c.3122A>C	c.(3121-3123)gAc>gCc	p.D1041A	TYK2_ENST00000524462.1_Missense_Mutation_p.D856A|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.D1041A	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1041	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D1041A(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TAGGCCAAAGTCCCCGATCTT	0.657																																																1	Substitution - Missense(1)	kidney(1)											75	62	66					19																	10463680		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3122A>C	19.37:g.10463680T>G	ENSP00000431885:p.Asp1041Ala		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	T	33	5.240521	0.95240	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74	5.54	5.54	0.83059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.211651	0.30311	N	0.009909	D	0.98858	0.9614	M	0.91818	3.245	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	D	0.99701	1.1004	10	0.87932	D	0	-39.7949	13.6778	0.62465	0.0:0.0:0.0:1.0	.	1041	P29597	TYK2_HUMAN	A	856;1041;1041;788;64	ENSP00000433203:D856A;ENSP00000431885:D1041A;ENSP00000264818:D1041A;ENSP00000436155:D64A	ENSP00000264818:D1041A	D	-	2	0	TYK2	10324680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.931000	0.87625	2.130000	0.65690	0.454000	0.30748	GAC		0.657	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			G	10463680	T	G	10463680	3	3	182	1	0	0	0	0	1	0	0	0	16815	1667	58	5	457	5	TYK2	19	10463680	Missense_Mutation	SNP	T	TCGA-B0-5097-01A-01D-1421-08		10463680	48665303	52	10688											
EPS15L1	58513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	16535940	16535940	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr19:16535940T>C	ENST00000248070.6	-	9	885	c.746A>G	c.(745-747)aAc>aGc	p.N249S	EPS15L1_ENST00000455140.2_Missense_Mutation_p.N249S|EPS15L1_ENST00000594975.1_Missense_Mutation_p.N249S|EPS15L1_ENST00000597937.1_Missense_Mutation_p.N249S|EPS15L1_ENST00000602009.1_Missense_Mutation_p.N95S|EPS15L1_ENST00000535753.2_Missense_Mutation_p.N249S	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	249	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N249S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCCTGTGCTGTTGAGGCTGCT	0.647																																																1	Substitution - Missense(1)	kidney(1)											56	54	55					19																	16535940		2203	4300	6503	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.746A>G	19.37:g.16535940T>C	ENSP00000248070:p.Asn249Ser		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	T	9.878	1.200794	0.22121	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.30182	1.95;1.94;1.54	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	N	0.12182	0.205	0.46185	D	0.998915	B;B;B;B;B;B	0.31599	0.12;0.034;0.077;0.196;0.33;0.175	B;B;B;B;B;B	0.30943	0.032;0.013;0.047;0.047;0.085;0.122	T	0.06607	-1.0817	10	0.08179	T	0.78	.	13.6296	0.62188	0.0:0.0:0.0:1.0	.	249;249;248;249;249;249	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	S	249	ENSP00000393313:N249S;ENSP00000248070:N249S;ENSP00000440103:N249S	ENSP00000248070:N249S	N	-	2	0	EPS15L1	16396940	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.066000	0.41452	2.013000	0.59113	0.459000	0.35465	AAC		0.647	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		C	16535940	T	C	16535940	3	2	182	1	0	0	0	0	1	0	0	0	5195	1725	60	3	1908	3	EPS15L1	19	16535940	Missense_Mutation	SNP	T	TCGA-B0-5097-01A-01D-1421-08	6072260	16535940	42593043	53	10689											
CHERP	84167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	16630029	16630029	+	Intron	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr19:16630029G>A	ENST00000221671.3	+	9	2170				CHERP_ENST00000546361.2_Missense_Mutation_p.R898C|CTD-3222D19.2_ENST00000409035.1_3'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.R909C|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44									p.R898C(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TTGTTCCTGCGGTAGTTCTCA	0.642																																																1	Substitution - Missense(1)	kidney(1)											55	59	58					19																	16630029		2029	4182	6211	SO:0001627	intron_variant	10523			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1972-876G>A	19.37:g.16630029G>A			Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005554	0.54254	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.50001	0.76;0.78	5.21	3.01	0.34805	.	.	.	.	.	T	0.63628	0.2527	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.62709	-0.6797	9	0.66056	D	0.02	-23.0805	7.9324	0.29909	0.0781:0.0:0.6243:0.2976	.	898	Q8IWX8	CHERP_HUMAN	C	898;909	ENSP00000439856:R898C;ENSP00000198939:R909C	ENSP00000198939:R909C	R	-	1	0	CHERP	16491029	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.271000	0.43364	0.551000	0.29008	-0.234000	0.12200	CGC		0.642	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		A	16630029	G	A	16630029	1	1	182	0	1	0	0	0	0	0	0	0	3338	1116	39	1		1	CHERP	19	16630029	Intron	SNP	G	TCGA-B0-5097-01A-01D-1421-08	94089	16630029	42498954	54	10690											
SLC27A1	376497	broad.mit.edu;hgsc.bcm.edu	37	19	17611525	17611525	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr19:17611525C>G	ENST00000252595.7	+	10	1573	c.1476C>G	c.(1474-1476)gaC>gaG	p.D492E	SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000598424.1_Missense_Mutation_p.D313E|SLC27A1_ENST00000442725.1_Missense_Mutation_p.D492E|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	492					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.D492E(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGCCAGGTGACGTGCTAGTGA	0.657																																																2	Substitution - Missense(2)	kidney(2)											77	78	78					19																	17611525		2203	4300	6503	SO:0001583	missense	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1476C>G	19.37:g.17611525C>G	ENSP00000252595:p.Asp492Glu		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388768	0.61956	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	D;D	0.87887	-2.31;-2.31	4.54	-6.23	0.02052	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	H	0.98256	4.185	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93137	0.6538	10	0.87932	D	0	-13.6811	12.3645	0.55221	0.0:0.2871:0.0:0.7129	.	313;492	B7Z662;Q6PCB7	.;S27A1_HUMAN	E	492	ENSP00000413424:D492E;ENSP00000252595:D492E	ENSP00000252595:D492E	D	+	3	2	SLC27A1	17472525	0.000000	0.05858	0.856000	0.33681	0.716000	0.41182	-2.615000	0.00882	-1.144000	0.02862	-0.258000	0.10820	GAC		0.657	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		G	17611525	C	G	17611525	3	3	182	1	0	0	0	0	1	0	0	0	14531	535	19	4	1514	4	SLC27A1	19	17611525	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	981496	17611525	41517458	55	10691											
PSG3	5671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	43228148	43228148	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr19:43228148G>T	ENST00000327495.5	-	6	1457	c.1273C>A	c.(1273-1275)Ctt>Att	p.L425I	PSG3_ENST00000595140.1_Intron	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	425					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L425I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AATGGATTAAGGCCAGGAAGA	0.443																																																1	Substitution - Missense(1)	kidney(1)											142	132	135					19																	43228148		2203	4300	6503	SO:0001583	missense	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1273C>A	19.37:g.43228148G>T	ENSP00000332215:p.Leu425Ile		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.476548	0.01035	.	.	ENSG00000221826	ENST00000327495	T	0.18960	2.18	0.738	-1.48	0.08745	.	.	.	.	.	T	0.12008	0.0292	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40683	-0.9550	8	0.11485	T	0.65	.	.	.	.	.	425	Q16557	PSG3_HUMAN	I	425	ENSP00000332215:L425I	ENSP00000332215:L425I	L	-	1	0	PSG3	47919988	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	-0.836000	0.04382	-0.418000	0.07450	-1.355000	0.01225	CTT		0.443	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		T	43228148	G	T	43228148	3	4	182	1	0	0	0	0	1	0	0	0	12661	1000	35	4	17	4	PSG3	19	43228148	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08	25616623	43228148	15900835	56	10692											
GZF1	64412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	23347703	23347703	+	Silent	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr20:23347703C>T	ENST00000338121.5	+	3	1505	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	GZF1_ENST00000377051.2_Silent_p.H476H|GZF1_ENST00000544236.1_5'UTR|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	476					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.H476H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CTCAGAACCACATGCTGATTT	0.348																																																1	Substitution - coding silent(1)	kidney(1)											137	121	126					20																	23347703		2203	4300	6503	SO:0001819	synonymous_variant	64412			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1428C>T	20.37:g.23347703C>T			A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	37	CCDS13151.1																																																																																				0.348	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		T	23347703	C	T	23347703	2	4	182	1	0	0	0	0	0	0	0	1	6916	477	17	2		2	GZF1	20	23347703	Silent	SNP	C	TCGA-B0-5097-01A-01D-1421-08		23347703	39677817	57	10693											
TBC1D25	4943	broad.mit.edu;hgsc.bcm.edu	37	X	48403330	48403330	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chrX:48403330G>C	ENST00000376771.4	+	3	648	c.307G>C	c.(307-309)Gac>Cac	p.D103H	TBC1D25_ENST00000476141.1_Intron|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	103					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.D103H(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTTCTATCTGACTGGGACCT	0.562																																																1	Substitution - Missense(1)	kidney(1)											98	79	85					X																	48403330		2203	4300	6503	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.307G>C	X.37:g.48403330G>C	ENSP00000365962:p.Asp103His		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612632	0.87258	.	.	ENSG00000068354	ENST00000376771;ENST00000418627	T;T	0.51574	0.7;0.7	5.64	5.64	0.86602	.	0.055626	0.64402	D	0.000002	T	0.68586	0.3017	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.973;0.973;0.985	T	0.72779	-0.4190	10	0.87932	D	0	-4.3508	13.9298	0.63989	0.0:0.0:1.0:0.0	.	107;45;103	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	H	103;119	ENSP00000365962:D103H;ENSP00000402268:D119H	ENSP00000365962:D103H	D	+	1	0	TBC1D25	48288274	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.648000	0.91062	2.360000	0.80028	0.523000	0.50628	GAC		0.562	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		C	48403330	G	C	48403330	3	2	182	1	0	0	0	0	1	0	0	0	15620	1290	45	4	317	4	TBC1D25	23	48403330	Missense_Mutation	SNP	G	TCGA-B0-5097-01A-01D-1421-08		48403330	106867230	58	10694											
ALAS2	212	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	55039931	55039931	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chrX:55039931C>A	ENST00000330807.5	-	10	1725	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*	ALAS2_ENST00000335854.4_Nonsense_Mutation_p.E493*|ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000396198.3_Nonsense_Mutation_p.E517*	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	530					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)	p.E517*(1)|p.E530*(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ACAAAATCTTCCATCATCTGA	0.577																																																2	Substitution - Nonsense(2)	kidney(2)											62	49	54					X																	55039931		2203	4300	6503	SO:0001587	stop_gained	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1588G>T	X.37:g.55039931C>A	ENSP00000332369:p.Glu530*		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Nonsense_Mutation	SNP	ENST00000330807.5	37	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	38	6.999099	0.97990	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	.	.	.	5.39	5.39	0.77823	.	0.256670	0.44688	D	0.000428	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-14.0501	10.8484	0.46757	0.0:0.9091:0.0:0.0909	.	.	.	.	X	530;517;493	.	ENSP00000332369:E530X	E	-	1	0	ALAS2	55056656	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.043000	0.30316	2.411000	0.81874	0.538000	0.68166	GAA		0.577	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		A	55039931	C	A	55039931	4	1	182	1	0	0	0	0	0	1	0	0	485	864	30	4	183	4	ALAS2	23	55039931	Nonsense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	6636601	55039931	100230629	59	10695											
TEX13A	56157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	104463697	104463697	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chrX:104463697C>A	ENST00000413579.1	-	5	1290	c.1179G>T	c.(1177-1179)agG>agT	p.R393S	IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_3'UTR|TEX13A_ENST00000372575.1_3'UTR			Q9BXU3	TX13A_HUMAN	testis expressed 13A	393							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGCAAGTATCCCTCCGTGAAA	0.488																																																0													182	170	174					X																	104463697		2097	4205	6302	SO:0001583	missense	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1179G>T	X.37:g.104463697C>A	ENSP00000399753:p.Arg393Ser		B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	C	12.52	1.963858	0.34659	.	.	ENSG00000133149	ENST00000413579	D	0.83335	-1.71	3.41	1.61	0.23674	Zinc finger, RanBP2-type (4);	0.758088	0.10797	N	0.633114	D	0.90817	0.7116	M	0.93854	3.465	0.09310	N	1	D	0.63046	0.992	P	0.62491	0.903	T	0.79006	-0.1979	10	0.87932	D	0	.	4.9442	0.13982	0.0:0.7023:0.0:0.2977	.	393	Q9BXU3	TX13A_HUMAN	S	393	ENSP00000399753:R393S	ENSP00000399753:R393S	R	-	3	2	TEX13A	104350353	0.000000	0.05858	0.000000	0.03702	0.452000	0.32318	0.399000	0.20916	0.301000	0.22738	0.436000	0.28706	AGG		0.488	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		A	104463697	C	A	104463697	3	1	182	1	0	0	0	0	1	0	0	0	15781	623	22	4	54	4	TEX13A	23	104463697	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	49423766	104463697	50806863	60	10696											
AFF2	2334	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	148035250	148035250	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chrX:148035250C>A	ENST00000370460.2	+	10	2017	c.1538C>A	c.(1537-1539)cCt>cAt	p.P513H	AFF2_ENST00000342251.3_Missense_Mutation_p.P480H|AFF2_ENST00000286437.5_Missense_Mutation_p.P154H|AFF2_ENST00000370457.5_Missense_Mutation_p.P480H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	513					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.P513H(2)|p.P154H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGAGGCACCTCGTGTGGCA	0.577																																																3	Substitution - Missense(3)	kidney(3)											110	101	104					X																	148035250		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1538C>A	X.37:g.148035250C>A	ENSP00000359489:p.Pro513His		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955502	0.73902	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.12	5.12	0.69794	.	0.130432	0.52532	D	0.000062	T	0.76011	0.3928	M	0.64170	1.965	0.30407	N	0.779482	D;D;D;D;D;D	0.67145	0.996;0.995;0.995;0.995;0.995;0.996	D;P;P;P;P;D	0.64042	0.921;0.871;0.871;0.871;0.871;0.921	T	0.76814	-0.2820	10	0.72032	D	0.01	.	17.9497	0.89048	0.0:1.0:0.0:0.0	.	154;478;480;474;503;513	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	513;480;480;154	ENSP00000359489:P513H;ENSP00000359486:P480H;ENSP00000345459:P480H;ENSP00000286437:P154H	ENSP00000286437:P154H	P	+	2	0	AFF2	147842950	0.984000	0.35163	0.962000	0.40283	0.927000	0.56198	5.209000	0.65208	2.260000	0.74910	0.600000	0.82982	CCT		0.577	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		A	148035250	C	A	148035250	3	1	182	1	0	0	0	0	1	0	0	0	357	681	24	4	1631	4	AFF2	23	148035250	Missense_Mutation	SNP	C	TCGA-B0-5097-01A-01D-1421-08	43571553	148035250	7235310	61	10697											
MMEL1	79258	broad.mit.edu	37	1	2524327	2524327	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:2524327T>C	ENST00000378412.3	-	20	2107	c.1946A>G	c.(1945-1947)gAg>gGg	p.E649G	MMEL1_ENST00000502556.1_Missense_Mutation_p.E492G|MMEL1_ENST00000288709.6_Missense_Mutation_p.E640G			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	649						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GATCATGCACTCTGACTGCTC	0.612																																																0													132	104	114					1																	2524327		2202	4300	6502	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1946A>G	1.37:g.2524327T>C	ENSP00000367668:p.Glu649Gly		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806077	0.31961	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.83250	-1.7;-1.7;-1.7	4.76	3.61	0.41365	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.639093	0.16427	N	0.214902	T	0.71525	0.3350	N	0.20766	0.605	0.27791	N	0.942829	P	0.45768	0.866	P	0.46208	0.507	T	0.66312	-0.5955	10	0.87932	D	0	-26.453	1.7739	0.03017	0.1694:0.0906:0.1768:0.5632	.	649	Q495T6	MMEL1_HUMAN	G	492;640;649;492	ENSP00000288709:E640G;ENSP00000367668:E649G;ENSP00000422492:E492G	ENSP00000288709:E640G	E	-	2	0	MMEL1	2514187	0.697000	0.27767	0.474000	0.27266	0.120000	0.20174	1.935000	0.40173	0.821000	0.34540	-0.313000	0.08912	GAG		0.612	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		C	2524327	T	C	2524327	3	2	183	1	0	0	0	0	1	0	0	0	9648	1551	54	3	413	3	MMEL1	1	2524327	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08		2524327	246726294	1	10698											
CHD5	26038	broad.mit.edu	37	1	6211094	6211094	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:6211094C>A	ENST00000262450.3	-	7	1091	c.992G>T	c.(991-993)aGg>aTg	p.R331M	CHD5_ENST00000378021.1_De_novo_Start_InFrame	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGTCATACTCCTCTTCTTCTT	0.617																																																0													96	92	93					1																	6211094		2203	4300	6503	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.992G>T	1.37:g.6211094C>A	ENSP00000262450:p.Arg331Met		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	14.57	2.576088	0.45902	.	.	ENSG00000116254	ENST00000262450	D	0.84873	-1.91	4.0	3.03	0.35002	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.067845	0.56097	U	0.000023	T	0.71525	0.3350	N	0.22421	0.69	0.80722	D	1	P	0.42785	0.79	B	0.38562	0.276	T	0.68588	-0.5369	10	0.56958	D	0.05	-3.6372	5.1145	0.14827	0.0:0.6336:0.1787:0.1877	.	331	Q8TDI0	CHD5_HUMAN	M	331	ENSP00000262450:R331M	ENSP00000262450:R331M	R	-	2	0	CHD5	6133681	1.000000	0.71417	0.995000	0.50966	0.775000	0.43874	2.803000	0.47924	0.754000	0.32968	0.457000	0.33378	AGG		0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6211094	C	A	6211094	3	1	183	1	0	0	0	0	1	0	0	0	3330	681	24	4	5012	4	CHD5	1	6211094	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3686767	6211094	243039527	2	10699											
ESPN	83715	broad.mit.edu	37	1	6501114	6501114	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:6501114G>A	ENST00000377828.1	+	5	1147	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	327					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCGCACGGTGGAGAACCT	0.652																																																0													22	21	21					1																	6501114		2199	4296	6495	SO:0001583	missense	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.979G>A	1.37:g.6501114G>A	ENSP00000367059:p.Val327Met		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	CCDS70.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358291	0.41801	.	.	ENSG00000187017	ENST00000377828;ENST00000418286	T;T	0.49432	0.78;0.78	3.71	2.79	0.32731	Ankyrin repeat-containing domain (1);	0.099808	0.38605	N	0.001635	T	0.37156	0.0993	L	0.35487	1.065	0.80722	D	1	B	0.24186	0.099	B	0.30572	0.117	T	0.20874	-1.0262	10	0.48119	T	0.1	-19.1169	9.9273	0.41501	0.1041:0.0:0.8959:0.0	.	327	B1AK53	ESPN_HUMAN	M	327;112	ENSP00000367059:V327M;ENSP00000401793:V112M	ENSP00000367059:V327M	V	+	1	0	ESPN	6423701	1.000000	0.71417	0.916000	0.36221	0.515000	0.34225	8.897000	0.92532	0.777000	0.33496	0.186000	0.17326	GTG		0.652	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		A	6501114	G	A	6501114	3	1	183	1	0	0	0	0	1	0	0	0	5256	1261	44	2	997	2	ESPN	1	6501114	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	290020	6501114	242749507	3	10700											
PIK3CD	5293	broad.mit.edu	37	1	9781596	9781596	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:9781596C>T	ENST00000377346.4	+	15	2101	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	PIK3CD_ENST00000543390.1_Missense_Mutation_p.R303W|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R660W|PIK3CD_ENST00000536656.1_Missense_Mutation_p.R660W	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	636	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCTGCTGGACCGGGCCCTGGC	0.617											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													59	60	60					1																	9781596		2203	4300	6503	SO:0001583	missense	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1906C>T	1.37:g.9781596C>T	ENSP00000366563:p.Arg636Trp	659	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.364980	0.41902	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.72	2.77	0.32553	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86703	0.5996	H	0.96208	3.785	0.48901	D	0.999725	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.89750	0.3939	10	0.87932	D	0	-45.5013	14.6661	0.68910	0.6353:0.3647:0.0:0.0	.	635;660;636	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	W	660;636;660;660;303	ENSP00000446444:R660W;ENSP00000366563:R636W;ENSP00000354410:R660W;ENSP00000443811:R303W	ENSP00000353766:R660W	R	+	1	2	PIK3CD	9704183	0.975000	0.34042	0.773000	0.31616	0.000000	0.00434	1.740000	0.38228	0.327000	0.23409	-1.036000	0.02392	CGG		0.617	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		T	9781596	C	T	9781596	3	4	183	1	0	0	0	0	1	0	0	0	11917	643	23	1	1956	1	PIK3CD	1	9781596	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3280482	9781596	239469025	4	10701											
KIF1B	23095	broad.mit.edu	37	1	10384065	10384065	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:10384065G>A	ENST00000377086.1	+	25	2684	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E782K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E828K			O60333	KIF1B_HUMAN	kinesin family member 1B	828					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGTAGCAGTAGAAGTCCAGGA	0.423																																																0													139	145	142					1																	10384065		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2482G>A	1.37:g.10384065G>A	ENSP00000366290:p.Glu828Lys		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.306362	0.95629	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.73152	-0.72;-0.72;-0.72	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	L	0.54908	1.71	0.80722	D	1	P;D;D;D;D;D	0.69078	0.942;0.97;0.994;0.974;0.997;0.974	P;P;P;P;P;D	0.70487	0.643;0.77;0.725;0.776;0.849;0.969	T	0.75377	-0.3339	10	0.22706	T	0.39	.	19.5085	0.95130	0.0:0.0:1.0:0.0	.	814;788;828;802;828;782	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	K	828;782;828;828	ENSP00000263934:E782K;ENSP00000366290:E828K;ENSP00000366284:E828K	ENSP00000263934:E782K	E	+	1	0	KIF1B	10306652	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	9.801000	0.99128	2.692000	0.91855	0.650000	0.86243	GAA		0.423	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			A	10384065	G	A	10384065	3	1	183	1	0	0	0	0	1	0	0	0	8286	943	33	2	3919	2	KIF1B	1	10384065	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	602469	10384065	238866556	5	10702											
MTOR	2475	broad.mit.edu	37	1	11182163	11182163	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:11182163A>G	ENST00000361445.4	-	48	6759	c.6683T>C	c.(6682-6684)aTc>aCc	p.I2228T	MTOR_ENST00000376838.1_Missense_Mutation_p.I433T	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2228	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CGATAAAGGGATGACAGCGTA	0.537																																																0													116	117	116					1																	11182163		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6683T>C	1.37:g.11182163A>G	ENSP00000354558:p.Ile2228Thr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956179	0.73902	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;D	0.82167	-0.52;-1.58	5.36	5.36	0.76844	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	N	0.26092	0.79	0.80722	D	1	B	0.27951	0.195	B	0.37387	0.248	T	0.78748	-0.2083	10	0.66056	D	0.02	-10.3444	15.3768	0.74610	1.0:0.0:0.0:0.0	.	2228	P42345	MTOR_HUMAN	T	2228;433	ENSP00000354558:I2228T;ENSP00000366034:I433T	ENSP00000354558:I2228T	I	-	2	0	MTOR	11104750	1.000000	0.71417	0.979000	0.43373	0.749000	0.42624	8.862000	0.92283	2.030000	0.59900	0.528000	0.53228	ATC		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11182163	A	G	11182163	3	3	183	1	0	0	0	0	1	0	0	0	9956	333	12	3	1010	3	MTOR	1	11182163	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	798098	11182163	238068458	6	10703											
SPEN	23013	broad.mit.edu	37	1	16261593	16261593	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:16261593T>C	ENST00000375759.3	+	11	9062	c.8858T>C	c.(8857-8859)aTt>aCt	p.I2953T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2953					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACCCCAAGCATTGTCACCACA	0.597																																																0													63	66	65					1																	16261593		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8858T>C	1.37:g.16261593T>C	ENSP00000364912:p.Ile2953Thr		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847860	0.32606	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.58	5.58	0.84498	.	.	.	.	.	T	0.13713	0.0332	L	0.44542	1.39	0.25222	N	0.989893	P	0.49447	0.924	P	0.47044	0.535	T	0.14172	-1.0482	9	0.12766	T	0.61	-17.2117	13.7044	0.62629	0.0:0.0:0.0:1.0	.	2953	Q96T58	MINT_HUMAN	T	2953	ENSP00000364912:I2953T	ENSP00000364912:I2953T	I	+	2	0	SPEN	16134180	0.998000	0.40836	0.995000	0.50966	0.914000	0.54420	3.081000	0.50120	2.116000	0.64780	0.459000	0.35465	ATT		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		C	16261593	T	C	16261593	3	2	183	1	0	0	0	0	1	0	0	0	15043	1493	52	3	8900	3	SPEN	1	16261593	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	5079430	16261593	232989028	7	10704											
PAQR7	164091	broad.mit.edu	37	1	26189565	26189567	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:26189565_26189567delAGA	ENST00000374296.3	-	2	1430_1432	c.764_766delTCT	c.(763-768)ttctct>tct	p.F255del	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	255					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAAGGTAGAGAAGAAGGCAGC	0.576																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)											0																																										SO:0001651	inframe_deletion	164091				CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"membrane progestin receptor alpha"	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.764_766delTCT	1.37:g.26189568_26189570delAGA	ENSP00000363414:p.Phe255del		A2A2D3|Q5XKF9|Q86VE4	In_Frame_Del	DEL	ENST00000374296.3	37	CCDS267.1																																																																																				0.576	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		-	26189567	AGA	-	26189565	7	5	183	1	0	1	0	1	0	0	0	0	11442	304	11	0	278	0	PAQR7	1	26189565	In_Frame_Del	DEL	AGA	TCGA-B0-5098-01A-01D-1421-08	9927972	26189565	223061056	8	10705											
AHDC1	27245	broad.mit.edu	37	1	27875714	27875714	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:27875714G>A	ENST00000247087.5	-	5	3509	c.2913C>T	c.(2911-2913)taC>taT	p.Y971Y	AHDC1_ENST00000374011.2_Silent_p.Y971Y			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	971							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CATAGCCGCCGTACTGGGGCA	0.657																																																0													46	57	53					1																	27875714		2194	4290	6484	SO:0001819	synonymous_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2913C>T	1.37:g.27875714G>A			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	CCDS30652.1																																																																																				0.657	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			A	27875714	G	A	27875714	2	1	183	1	0	0	0	0	0	0	0	1	412	1140	40	1		1	AHDC1	1	27875714	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1686149	27875714	221374907	9	10706											
EPB41	2035	broad.mit.edu	37	1	29314068	29314068	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:29314068delA	ENST00000343067.4	+	2	246	c.119delA	c.(118-120)caafs	p.Q40fs	EPB41_ENST00000373797.1_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000398863.2_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000356093.2_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000373800.3_5'UTR|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Frame_Shift_Del_p.Q40fs|EPB41_ENST00000373798.1_Frame_Shift_Del_p.Q40fs	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	40					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAATCTTGTCAAACAGCAGCT	0.468																																																0													177	178	178					1																	29314068		2203	4300	6503	SO:0001589	frameshift_variant	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.119delA	1.37:g.29314068delA	ENSP00000345259:p.Gln40fs		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Frame_Shift_Del	DEL	ENST00000343067.4	37	CCDS53288.1																																																																																				0.468	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		-	29314068	A	-	29314068	7	5	183	1	0	1	0	1	0	0	0	0	5153	130	5	0	121	0	EPB41	1	29314068	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	1438354	29314068	219936553	10	10707											
TINAGL1	64129	broad.mit.edu	37	1	32050813	32050813	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:32050813delC	ENST00000271064.7	+	8	995	c.919delC	c.(919-921)cccfs	p.P308fs	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Frame_Shift_Del_p.P277fs	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	308					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		TGGCCCTGCGCCCCCCTGTAT	0.602																																																0													102	109	107					1																	32050813		2203	4300	6503	SO:0001589	frameshift_variant	64129			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.919delC	1.37:g.32050813delC	ENSP00000271064:p.Pro308fs		A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Frame_Shift_Del	DEL	ENST00000271064.7	37	CCDS343.1																																																																																				0.602	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		-	32050813	C	-	32050813	7	5	183	1	0	1	0	1	0	0	0	0	15927	739	26	0	945	0	TINAGL1	1	32050813	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	2736745	32050813	217199808	11	10708											
C1orf122	127687	broad.mit.edu	37	1	38274716	38274716	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:38274716G>A	ENST00000373042.4	+	3	563	c.304G>A	c.(304-306)Gat>Aat	p.D102N	C1orf122_ENST00000468084.1_Missense_Mutation_p.D39N|C1orf122_ENST00000373043.1_Missense_Mutation_p.D39N|C1orf122_ENST00000446260.2_Silent_p.R130R|YRDC_ENST00000373044.2_5'Flank			Q6ZSJ8	CA122_HUMAN	chromosome 1 open reading frame 122	102										kidney(2)|lung(2)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)				CTTTCCAAAGGATGCTGGCGA	0.612																																																0													51	61	58					1																	38274716		2203	4299	6502	SO:0001583	missense	127687			AK127381	CCDS427.2, CCDS44112.1	1p34.3	2008-02-05		2005-08-09	ENSG00000197982	ENSG00000197982			24789	protein-coding gene	gene with protein product						12477932	Standard	NM_198446		Approved	FLJ45459	uc001ccd.2	Q6ZSJ8	OTTHUMG00000004319	ENST00000373042.4:c.304G>A	1.37:g.38274716G>A	ENSP00000362133:p.Asp102Asn		A2RQF4|E9PQ13|Q56A71	Missense_Mutation	SNP	ENST00000373042.4	37	CCDS427.2	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236050	0.58886	.	.	ENSG00000197982	ENST00000373043;ENST00000468084;ENST00000373042	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	T	0.40171	0.1106	N	0.08118	0	0.80722	D	1	B	0.23185	0.081	B	0.27380	0.079	T	0.39941	-0.9589	8	0.87932	D	0	.	13.3637	0.60671	0.0:0.0:1.0:0.0	.	102	Q6ZSJ8	CA122_HUMAN	N	39;39;102	.	ENSP00000362133:D102N	D	+	1	0	C1orf122	38047303	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.018000	0.57174	2.873000	0.98535	0.563000	0.77884	GAT		0.612	C1orf122-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012471.2	NM_198446		A	38274716	G	A	38274716	3	1	183	1	0	0	0	0	1	0	0	0	1992	1174	41	2	314	2	C1orf122	1	38274716	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	6223903	38274716	210975905	12	10709											
TRIT1	54802	broad.mit.edu	37	1	40307451	40307451	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:40307451C>A	ENST00000316891.5	-	11	1383	c.1369G>T	c.(1369-1371)Ggg>Tgg	p.G457W	TRIT1_ENST00000537223.1_Missense_Mutation_p.G153W|TRIT1_ENST00000545233.1_Missense_Mutation_p.G211W|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Missense_Mutation_p.G75W|TRIT1_ENST00000372818.1_Missense_Mutation_p.G431W|TRIT1_ENST00000537440.1_Missense_Mutation_p.G153W|TRIT1_ENST00000441669.2_Missense_Mutation_p.G375W	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	457					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCATTCTGCCCTGGGGATCCC	0.473																																																0													317	303	308					1																	40307451		2203	4300	6503	SO:0001583	missense	54802			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1369G>T	1.37:g.40307451C>A	ENSP00000321810:p.Gly457Trp		A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727669	0.30593	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000545233;ENST00000537440;ENST00000537223;ENST00000541099	T;T	0.48522	0.83;0.81	5.93	2.89	0.33648	.	0.739611	0.12849	N	0.434113	T	0.49695	0.1572	N	0.24115	0.695	0.09310	N	0.999999	P;D;D;D	0.67145	0.89;0.973;0.996;0.99	P;P;P;P	0.61874	0.604;0.777;0.895;0.841	T	0.36625	-0.9740	10	0.87932	D	0	-0.6498	9.7927	0.40715	0.283:0.5806:0.1364:0.0	.	457;431;375;153	Q9H3H1;Q9H3H1-4;Q9H3H1-5;Q3T7B5	MOD5_HUMAN;.;.;.	W	431;375;369;457;431;350;211;153;153;75	ENSP00000321810:G457W;ENSP00000361905:G431W	ENSP00000046894:G431W	G	-	1	0	TRIT1	40080038	0.005000	0.15991	0.017000	0.16124	0.080000	0.17528	1.005000	0.29834	0.821000	0.34540	0.655000	0.94253	GGG		0.473	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		A	40307451	C	A	40307451	3	1	183	1	0	0	0	0	1	0	0	0	16565	681	24	4	38	4	TRIT1	1	40307451	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2032735	40307451	208943170	13	10710											
ZMYND12	84217	broad.mit.edu	37	1	42914182	42914182	+	Missense_Mutation	SNP	A	A	G	rs144825054		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:42914182A>G	ENST00000372565.3	-	3	649	c.380T>C	c.(379-381)gTa>gCa	p.V127A	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	127						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACAAGCTCTACGGAGCTCAG	0.522																																																0								A	,ALA/VAL	0,4406		0,0,2203	77	69	72		,380	5.6	1	1	dbSNP_134	72	4,8596	3.0+/-9.4	0,4,4296	no	intron,missense	ZMYND12	NM_001146192.1,NM_032257.4	,64	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	,probably-damaging	,127/366	42914182	4,13002	2203	4300	6503	SO:0001583	missense	84217			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.380T>C	1.37:g.42914182A>G	ENSP00000361646:p.Val127Ala		Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	CCDS467.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470699	0.43942	0.0	4.65E-4	ENSG00000066185	ENST00000372565	T	0.62941	-0.01	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	M	0.63428	1.95	0.80722	D	1	P	0.45348	0.856	B	0.34991	0.193	T	0.56607	-0.7951	10	0.06236	T	0.91	-14.6936	13.6973	0.62587	1.0:0.0:0.0:0.0	.	127	Q9H0C1	ZMY12_HUMAN	A	127	ENSP00000361646:V127A	ENSP00000361646:V127A	V	-	2	0	ZMYND12	42686769	0.555000	0.26530	0.981000	0.43875	0.312000	0.27988	4.651000	0.61447	2.118000	0.64928	0.459000	0.35465	GTA		0.522	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		G	42914182	A	G	42914182	3	3	183	1	0	0	0	0	1	0	0	0	17712	391	14	3	741	3	ZMYND12	1	42914182	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2606731	42914182	206336439	14	10711											
MAST2	23139	broad.mit.edu	37	1	46500672	46500672	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:46500672G>T	ENST00000361297.2	+	29	4614	c.4331G>T	c.(4330-4332)aGg>aTg	p.R1444M	MAST2_ENST00000372009.2_Missense_Mutation_p.R1254M	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTGCCGCCCAGGGAAGTGAGC	0.632																																																0													32	36	35					1																	46500672		2012	4180	6192	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4331G>T	1.37:g.46500672G>T	ENSP00000354671:p.Arg1444Met			Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	g	16.07	3.019836	0.54576	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.68765	-0.23;-0.35	3.93	3.93	0.45458	.	0.296030	0.24681	N	0.036470	T	0.72407	0.3456	L	0.34521	1.04	0.35600	D	0.807828	D;D	0.71674	0.991;0.998	P;D	0.64042	0.818;0.921	T	0.80400	-0.1398	10	0.66056	D	0.02	-8.0209	17.2802	0.87126	0.0:0.0:1.0:0.0	.	1254;1444	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	M	1444;1254	ENSP00000354671:R1444M;ENSP00000361079:R1254M	ENSP00000354671:R1444M	R	+	2	0	MAST2	46273259	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	6.112000	0.71547	2.486000	0.83907	0.558000	0.71614	AGG		0.632	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		T	46500672	G	T	46500672	3	4	183	1	0	0	0	0	1	0	0	0	9327	1000	35	4	4445	4	MAST2	1	46500672	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	3586490	46500672	202749949	15	10712											
FAAH	2166	broad.mit.edu	37	1	46871324	46871324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:46871324delG	ENST00000243167.8	+	5	727	c.643delG	c.(643-645)gggfs	p.G216fs	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	216					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CAAAAGCCCAGGGGGCTCCTC	0.627																																																0													68	82	77					1																	46871324		2202	4300	6502	SO:0001589	frameshift_variant	2166			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.643delG	1.37:g.46871324delG	ENSP00000243167:p.Gly216fs		D3DQ19|Q52M86|Q5TDF8	Frame_Shift_Del	DEL	ENST00000243167.8	37	CCDS535.1																																																																																				0.627	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		-	46871324	G	-	46871324	7	5	183	1	0	1	0	1	0	0	0	0	5355	1000	35	0	661	0	FAAH	1	46871324	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	370652	46871324	202379297	16	10713											
DMBX1	127343	broad.mit.edu	37	1	46972769	46972769	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:46972769G>A	ENST00000360032.3	+	1	101	c.87G>A	c.(85-87)caG>caA	p.Q29Q	DMBX1_ENST00000371956.4_Silent_p.Q29Q	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGCAGCCCAGCAGGCCCAGC	0.642																																																0													74	62	66					1																	46972769		2203	4300	6503	SO:0001819	synonymous_variant	127343			AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.87G>A	1.37:g.46972769G>A				Silent	SNP	ENST00000360032.3	37	CCDS536.1																																																																																				0.642	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			A	46972769	G	A	46972769	2	1	183	1	0	0	0	0	0	0	0	1	4580	962	34	2		2	DMBX1	1	46972769	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	101445	46972769	202277852	17	10714											
MOBKL2C	148932	broad.mit.edu	37	1	47078581	47078581	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:47078581C>T	ENST00000319928.3	-	2	643	c.413G>A	c.(412-414)cGt>cAt	p.R138H	MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000371940.1_Missense_Mutation_p.R161H|MOB3C_ENST00000271139.8_Missense_Mutation_p.R190H|MOB3C_ENST00000477318.1_5'UTR	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	138							metal ion binding (GO:0046872)	p.R190H(1)									CTCACCAACACGCGTGGGAAA	0.577																																																1	Substitution - Missense(1)	large_intestine(1)											34	38	37					1																	47078581		2183	4291	6474	SO:0001583	missense	148932			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.413G>A	1.37:g.47078581C>T	ENSP00000315113:p.Arg138His		D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	CCDS540.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758726	0.69763	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.26	4.14	0.48551	.	0.048730	0.85682	D	0.000000	T	0.57636	0.2067	L	0.56124	1.755	0.58432	D	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.60052	-0.7338	9	0.59425	D	0.04	-15.8032	13.8511	0.63496	0.0:0.9122:0.0:0.0878	.	138	Q70IA8	MOB3C_HUMAN	H	138;190;161	.	ENSP00000271139:R190H	R	-	2	0	MOBKL2C	46851168	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	6.056000	0.71111	2.462000	0.83206	0.557000	0.71058	CGT		0.577	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		T	47078581	C	T	47078581	3	4	183	1	0	0	0	0	1	0	0	0	9688	536	19	1	249	1	MOBKL2C	1	47078581	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	105812	47078581	202172040	18	10715											
ORC1L	4998	broad.mit.edu	37	1	52841244	52841244	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:52841244G>A	ENST00000371568.3	-	15	2379	c.2161C>T	c.(2161-2163)Cgg>Tgg	p.R721W	ORC1_ENST00000371566.1_Missense_Mutation_p.R721W	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	721	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCCAGGCACCGTCGTGCATCT	0.547																																																0													109	99	103					1																	52841244		2203	4300	6503	SO:0001583	missense	4998				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2161C>T	1.37:g.52841244G>A	ENSP00000360623:p.Arg721Trp		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698404	0.88830	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.58210	0.35;0.35	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85229	0.1031	10	0.87932	D	0	-13.6439	14.2705	0.66149	0.0:0.0:0.8514:0.1486	.	716;721	B7Z8H0;Q13415	.;ORC1_HUMAN	W	721	ENSP00000360623:R721W;ENSP00000360621:R721W	ENSP00000360621:R721W	R	-	1	2	ORC1	52613832	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.632000	0.67819	2.817000	0.96982	0.563000	0.77884	CGG		0.547	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		A	52841244	G	A	52841244	3	1	183	1	0	0	0	0	1	0	0	0	11263	1144	40	1	436	1	ORC1L	1	52841244	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	5762663	52841244	196409377	19	10716											
WLS	79971	broad.mit.edu	37	1	68614299	68614299	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:68614299G>A	ENST00000262348.4	-	7	1270	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Silent_p.V337V|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Silent_p.V248V|WLS_ENST00000540432.1_Silent_p.V339V	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	339					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CAATGGGTCCGACTTGCTTCC	0.512																																																0													158	105	123					1																	68614299		2203	4300	6503	SO:0001819	synonymous_variant	79971			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1017C>T	1.37:g.68614299G>A			B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	CCDS642.1																																																																																				0.512	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		A	68614299	G	A	68614299	2	1	183	1	0	0	0	0	0	0	0	1	17381	1045	37	1		1	WLS	1	68614299	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	15773055	68614299	180636322	20	10717											
CELSR2	1952	broad.mit.edu	37	1	109806260	109806260	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:109806260G>A	ENST00000271332.3	+	9	4923	c.4862G>A	c.(4861-4863)gGc>gAc	p.G1621D		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1621	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACTTCCTGGGCAGCAGCCTG	0.652											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)											0													113	101	105					1																	109806260		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4862G>A	1.37:g.109806260G>A	ENSP00000271332:p.Gly1621Asp	1422	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752812	0.89753	.	.	ENSG00000143126	ENST00000271332	T	0.74526	-0.85	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.84790	0.5550	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.85057	0.0932	9	0.52906	T	0.07	.	18.3881	0.90473	0.0:0.0:1.0:0.0	.	1621	Q9HCU4	CELR2_HUMAN	D	1621	ENSP00000271332:G1621D	ENSP00000271332:G1621D	G	+	2	0	CELSR2	109607783	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.044000	0.71012	2.686000	0.91538	0.561000	0.74099	GGC		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109806260	G	A	109806260	3	1	183	1	0	0	0	0	1	0	0	0	3224	1203	42	2	4896	2	CELSR2	1	109806260	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	41191961	109806260	139444361	21	10718											
PHTF1	10745	broad.mit.edu	37	1	114243546	114243546	+	Missense_Mutation	SNP	A	A	G	rs191119223		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:114243546A>G	ENST00000369604.1	-	16	2399	c.1916T>C	c.(1915-1917)cTg>cCg	p.L639P	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.L586P|PHTF1_ENST00000369598.1_Missense_Mutation_p.L594P|PHTF1_ENST00000369600.1_Missense_Mutation_p.L586P|PHTF1_ENST00000393357.2_Missense_Mutation_p.L639P			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	639					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCATCATTCAGGAAAGTTTT	0.333													A|||	1	0.000199681	0.0	0.0	5008	,	,		18118	0.001		0.0	False		,,,				2504	0.0															0													71	74	73					1																	114243546		2203	4300	6503	SO:0001583	missense	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1916T>C	1.37:g.114243546A>G	ENSP00000358617:p.Leu639Pro		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	CCDS861.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	23.6	4.436656	0.83885	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604	.	.	.	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.69088	0.3072	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73946	-0.3822	9	0.87932	D	0	-10.3365	15.5622	0.76258	1.0:0.0:0.0:0.0	.	639	Q9UMS5	PHTF1_HUMAN	P	594;639;586;594;586;639	.	ENSP00000358609:L586P	L	-	2	0	PHTF1	114045069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.300000	0.96151	2.077000	0.62373	0.528000	0.53228	CTG		0.333	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		G	114243546	A	G	114243546	3	3	183	1	0	0	0	0	1	0	0	0	11864	188	7	3	388	3	PHTF1	1	114243546	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	4437286	114243546	135007075	22	10719											
NGF	4803	broad.mit.edu	37	1	115829215	115829215	+	Missense_Mutation	SNP	G	G	A	rs572066909		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:115829215G>A	ENST00000369512.2	-	3	370	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	68					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GTAATGTTGCGGGTCTGCCCC	0.622													G|||	0	0.0	0.0	0.0	5008	,	,		15544	0.0		0.0	False		,,,				2504	0.0															0													42	44	43					1																	115829215		2203	4300	6503	SO:0001583	missense	4803				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.202C>T	1.37:g.115829215G>A	ENSP00000358525:p.Arg68Cys		A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	9.769	1.172074	0.21704	.	.	ENSG00000134259	ENST00000369512	T	0.62232	0.04	5.06	0.274	0.15654	.	0.766887	0.13020	N	0.420138	T	0.27629	0.0679	L	0.47716	1.5	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	10	0.41790	T	0.15	-4.6397	3.9972	0.09564	0.2842:0.0:0.4425:0.2732	.	68	P01138	NGF_HUMAN	C	68	ENSP00000358525:R68C	ENSP00000358525:R68C	R	-	1	0	NGF	115630738	0.000000	0.05858	0.990000	0.47175	0.786000	0.44442	-0.141000	0.10327	0.222000	0.20900	-0.363000	0.07495	CGC		0.622	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		A	115829215	G	A	115829215	3	1	183	1	0	0	0	0	1	0	0	0	10397	1116	39	1	527	1	NGF	1	115829215	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1585669	115829215	133421406	23	10720											
PTGFRN	5738	broad.mit.edu	37	1	117491858	117491858	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:117491858A>G	ENST00000393203.2	+	4	1024	c.877A>G	c.(877-879)Aag>Gag	p.K293E		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	293	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GGCTGAAGGAAAGGAACTGGA	0.498																																																0													118	108	111					1																	117491858		2203	4300	6503	SO:0001583	missense	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.877A>G	1.37:g.117491858A>G	ENSP00000376899:p.Lys293Glu		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	CCDS890.1	.	.	.	.	.	.	.	.	.	.	A	6.775	0.512004	0.12944	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.26223	1.75	5.77	4.64	0.57946	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.425446	0.27922	N	0.017313	T	0.03651	0.0104	N	0.14661	0.345	0.28657	N	0.906361	B	0.14012	0.009	B	0.12156	0.007	T	0.37150	-0.9718	10	0.02654	T	1	-36.5665	8.8267	0.35059	0.9134:0.0:0.0866:0.0	.	293	Q9P2B2	FPRP_HUMAN	E	293;152	ENSP00000376899:K293E	ENSP00000376899:K293E	K	+	1	0	PTGFRN	117293381	0.996000	0.38824	0.949000	0.38748	0.953000	0.61014	3.269000	0.51592	2.200000	0.70718	0.459000	0.35465	AAG		0.498	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		G	117491858	A	G	117491858	3	3	183	1	0	0	0	0	1	0	0	0	12756	15	1	3	891	3	PTGFRN	1	117491858	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1662643	117491858	131758763	24	10721											
NBPF10	100132406	broad.mit.edu	37	1	145367814	145367814	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:145367814A>G	ENST00000342960.5	+	83	10445	c.10410A>G	c.(10408-10410)ccA>ccG	p.P3470P	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	765						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAAACCCACCATGCCCCAGGT	0.428																																																0																																										SO:0001819	synonymous_variant	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10410A>G	1.37:g.145367814A>G			Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	CCDS53355.1																																																																																				0.428	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		G	145367814	A	G	145367814	2	3	183	1	0	0	0	0	0	0	0	1	10195	204	8	3		3	NBPF10	1	145367814	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	27875956	145367814	103882807	25	10722											
PEX11B	8799	broad.mit.edu	37	1	145522547	145522547	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:145522547C>T	ENST00000369306.3	+	4	557	c.408C>T	c.(406-408)agC>agT	p.S136S	ITGA10_ENST00000369304.3_5'Flank|ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000539363.1_5'Flank|PEX11B_ENST00000537888.1_Silent_p.S122S	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	136					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAATTTGAGCCGTGATGCTT	0.448																																																0													185	173	177					1																	145522547		2203	4300	6503	SO:0001819	synonymous_variant	8799			AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"peroxisomal biogenesis factor 11B"			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.408C>T	1.37:g.145522547C>T			B3KN85|B4DXH9|Q96ET2	Silent	SNP	ENST00000369306.3	37	CCDS917.1																																																																																				0.448	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846		T	145522547	C	T	145522547	2	4	183	1	0	0	0	0	0	0	0	1	11740	738	26	2		2	PEX11B	1	145522547	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	154733	145522547	103728074	26	10723											
ADAMTSL4	54507	broad.mit.edu	37	1	150532263	150532263	+	Silent	SNP	G	G	A	rs368789447		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:150532263G>A	ENST00000369038.2	+	16	3171	c.2970G>A	c.(2968-2970)acG>acA	p.T990T	ADAMTSL4_ENST00000369039.5_Silent_p.T1013T|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.T990T			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	990	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGGGGGAACGCAGACACGGG	0.637											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0014	5008	,	,		17067	0.0		0.0	False		,,,				2504	0.0															0													94	102	99					1																	150532263		2203	4300	6503	SO:0001819	synonymous_variant	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2970G>A	1.37:g.150532263G>A		1733	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	CCDS955.1																																																																																				0.637	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		A	150532263	G	A	150532263	2	1	183	1	0	0	0	0	0	0	0	1	277	1074	38	1		1	ADAMTSL4	1	150532263	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	5009716	150532263	98718358	27	10724											
TMOD4	29765	broad.mit.edu	37	1	151147019	151147019	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151147019A>G	ENST00000416280.2	-	3	227	c.128T>C	c.(127-129)aTg>aCg	p.M43T	VPS72_ENST00000496809.1_5'Flank|TMOD4_ENST00000601585.1_5'Flank			Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	0					muscle contraction (GO:0006936)	striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCAGGAGCATGTTCTTAGG	0.562																																																0													140	136	138					1																	151147019		2203	4300	6503	SO:0001583	missense	29765			AF177173	CCDS988.1	1q12	2008-05-23			ENSG00000163157	ENSG00000163157			11874	protein-coding gene	gene with protein product	"actin-capping protein"	605834				10662549, 10497209	Standard	NM_013353		Approved	Sk-Tmod	uc001exc.4	Q9NZQ9	OTTHUMG00000012350	ENST00000416280.2:c.128T>C	1.37:g.151147019A>G	ENSP00000414180:p.Met43Thr		B7Z6N9|Q5JR83|Q8WVL3|Q9UKH2	Missense_Mutation	SNP	ENST00000416280.2	37		.	.	.	.	.	.	.	.	.	.	.	15.30	2.792369	0.50102	.	.	ENSG00000163157	ENST00000295314;ENST00000416280;ENST00000441701	T;T;T	0.27890	1.64;1.64;1.64	5.88	5.88	0.94601	.	0.244478	0.49916	D	0.000131	T	0.04861	0.0131	N	0.00841	-1.15	0.80722	D	1	B;B	0.23316	0.083;0.002	B;B	0.21917	0.037;0.003	T	0.23476	-1.0187	10	0.31617	T	0.26	-15.6905	13.801	0.63199	1.0:0.0:0.0:0.0	.	43;43	B7Z6N9;Q9NZQ9	.;TMOD4_HUMAN	T	43	ENSP00000295314:M43T;ENSP00000414180:M43T;ENSP00000406333:M43T	ENSP00000295314:M43T	M	-	2	0	TMOD4	149413643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.604000	0.61112	2.252000	0.74401	0.459000	0.35465	ATG		0.562	TMOD4-201	KNOWN	basic	protein_coding	protein_coding				G	151147019	A	G	151147019	3	3	183	1	0	0	0	0	1	0	0	0	16241	217	8	3	941	3	TMOD4	1	151147019	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	614756	151147019	98103602	28	10725											
ZNF687	57592	broad.mit.edu	37	1	151259818	151259818	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151259818T>C	ENST00000368879.2	+	2	1149	c.1051T>C	c.(1051-1053)Tca>Cca	p.S351P		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGGTCCCCTCAGATCCTGA	0.557																																																0													64	61	62					1																	151259818		2203	4300	6503	SO:0001583	missense	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1051T>C	1.37:g.151259818T>C	ENSP00000357874:p.Ser351Pro		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37		.	.	.	.	.	.	.	.	.	.	T	2.511	-0.312870	0.05422	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00705	5.81;5.81;6.14	5.02	5.02	0.67125	.	0.000000	0.29646	N	0.011575	T	0.00328	0.0010	N	0.13043	0.29	0.41583	D	0.988755	B;B;B	0.30455	0.28;0.039;0.28	B;B;B	0.31337	0.128;0.039;0.118	T	0.69833	-0.5038	9	.	.	.	.	13.8618	0.63566	0.0:0.0:0.0:1.0	.	351;351;351	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	P	351	ENSP00000336620:S351P;ENSP00000319829:S351P;ENSP00000357874:S351P	.	S	+	1	0	ZNF687	149526442	0.998000	0.40836	1.000000	0.80357	0.071000	0.16799	4.807000	0.62576	2.118000	0.64928	0.459000	0.35465	TCA		0.557	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		C	151259818	T	C	151259818	3	2	183	1	0	0	0	0	1	0	0	0	18097	1551	54	3	1053	3	ZNF687	1	151259818	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	112799	151259818	97990803	29	10726											
PI4KB	5298	broad.mit.edu	37	1	151274728	151274728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151274728G>A	ENST00000368873.1	-	7	1735	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	PI4KB_ENST00000368874.4_Nonsense_Mutation_p.R508*|PI4KB_ENST00000368872.1_Nonsense_Mutation_p.R508*|PI4KB_ENST00000529142.1_Nonsense_Mutation_p.R191*|PI4KB_ENST00000368875.2_Nonsense_Mutation_p.R535*|PI4KB_ENST00000271657.5_Nonsense_Mutation_p.R535*|RN7SL444P_ENST00000578948.1_RNA			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	523					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTGGGTCTCGTTTGAAGGCT	0.547																																					Colon(154;765 1838 9854 28443 37492)											0													145	141	142					1																	151274728		2203	4300	6503	SO:0001587	stop_gained	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1567C>T	1.37:g.151274728G>A	ENSP00000357867:p.Arg523*		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Nonsense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	G	39	7.873509	0.98537	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000430800	.	.	.	5.0	3.09	0.35607	.	0.167398	0.49916	D	0.000124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6674	7.2576	0.26185	0.0818:0.0:0.6194:0.2987	.	.	.	.	X	508;535;535;523;191;508;191	.	ENSP00000271657:R535X	R	-	1	2	PI4KB	149541352	0.987000	0.35691	0.915000	0.36163	0.975000	0.68041	1.910000	0.39927	0.673000	0.31224	-0.379000	0.06801	CGA		0.547	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		A	151274728	G	A	151274728	4	1	183	1	0	0	0	0	0	1	0	0	11876	1153	40	1	907	1	PI4KB	1	151274728	Nonsense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	14910	151274728	97975893	30	10727											
PI4KB	5298	broad.mit.edu	37	1	151288484	151288484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151288484delG	ENST00000368873.1	-	2	642	c.474delC	c.(472-474)gccfs	p.A158fs	PI4KB_ENST00000368874.4_Frame_Shift_Del_p.A158fs|PI4KB_ENST00000368872.1_Frame_Shift_Del_p.A158fs|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368875.2_Frame_Shift_Del_p.A170fs|PI4KB_ENST00000271657.5_Frame_Shift_Del_p.A170fs			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	158	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCAATGTAGGCTTGTACTC	0.488																																					Colon(154;765 1838 9854 28443 37492)											0													83	81	82					1																	151288484		2203	4300	6503	SO:0001589	frameshift_variant	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.474delC	1.37:g.151288484delG	ENSP00000357867:p.Ala158fs		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Frame_Shift_Del	DEL	ENST00000368873.1	37																																																																																					0.488	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		-	151288484	G	-	151288484	7	5	183	1	0	1	0	1	0	0	0	0	11876	987	35	0	2020	0	PI4KB	1	151288484	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	13756	151288484	97962137	31	10728											
TUFT1	7286	broad.mit.edu	37	1	151535065	151535065	+	Missense_Mutation	SNP	G	G	A	rs113585307		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151535065G>A	ENST00000368849.3	+	3	202	c.140G>A	c.(139-141)gGc>gAc	p.G47D	TUFT1_ENST00000538902.1_Missense_Mutation_p.G66D|TUFT1_ENST00000368848.2_Missense_Mutation_p.G22D|TUFT1_ENST00000353024.3_Intron|RP11-74C1.4_ENST00000434112.1_RNA|TUFT1_ENST00000392712.3_Missense_Mutation_p.G22D	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	47					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGCCAGGCGGGCAGGAAGACC	0.537																																																0													80	70	73					1																	151535065		2203	4300	6503	SO:0001583	missense	7286			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.140G>A	1.37:g.151535065G>A	ENSP00000357842:p.Gly47Asp		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184052	0.57800	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000368848;ENST00000544350;ENST00000538902;ENST00000507671	T;T;T;T	0.47528	2.21;0.84;1.15;2.17	5.53	3.56	0.40772	.	0.518671	0.18855	N	0.129281	T	0.47192	0.1432	M	0.63428	1.95	0.29789	N	0.833374	P;D;P	0.62365	0.935;0.991;0.946	P;P;P	0.58970	0.613;0.849;0.691	T	0.42882	-0.9425	10	0.72032	D	0.01	-12.7228	11.6217	0.51121	0.0:0.4373:0.5627:0.0	.	66;22;47	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	D	47;22;22;22;66;22	ENSP00000357842:G47D;ENSP00000376476:G22D;ENSP00000357841:G22D;ENSP00000437997:G66D	ENSP00000357841:G22D	G	+	2	0	TUFT1	149801689	0.997000	0.39634	1.000000	0.80357	0.717000	0.41224	0.769000	0.26604	1.291000	0.44653	0.655000	0.94253	GGC		0.537	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		A	151535065	G	A	151535065	3	1	183	1	0	0	0	0	1	0	0	0	16777	1203	42	2	150	2	TUFT1	1	151535065	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	246581	151535065	97715556	32	10729											
RORC	6097	broad.mit.edu	37	1	151785790	151785790	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151785790G>A	ENST00000318247.6	-	8	1206	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	RORC_ENST00000356728.6_Missense_Mutation_p.R346W|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.R421W	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	367	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTAGGCCCGGCACATCCTA	0.567																																																0													195	192	193					1																	151785790		2203	4300	6503	SO:0001583	missense	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1099C>T	1.37:g.151785790G>A	ENSP00000327025:p.Arg367Trp		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236436	0.79800	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.96554	-4.05;-4.05;-4.05	4.62	2.67	0.31697	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.088762	0.45361	U	0.000374	D	0.97461	0.9169	M	0.86097	2.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97583	1.0112	10	0.87932	D	0	.	12.1998	0.54319	0.0:0.0:0.6913:0.3087	.	367;421;367;346	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	W	346;421;367	ENSP00000349164:R346W;ENSP00000376461:R421W;ENSP00000327025:R367W	ENSP00000327025:R367W	R	-	1	2	RORC	150052414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.368000	0.66133	0.510000	0.28216	0.563000	0.77884	CGG		0.567	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			A	151785790	G	A	151785790	3	1	183	1	0	0	0	0	1	0	0	0	13536	1115	39	1	473	1	RORC	1	151785790	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	250725	151785790	97464831	33	10730											
RORC	6097	broad.mit.edu	37	1	151789698	151789698	+	Silent	SNP	G	G	A	rs200606878		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:151789698G>A	ENST00000318247.6	-	3	236	c.129C>T	c.(127-129)taC>taT	p.Y43Y	RORC_ENST00000356728.6_Silent_p.Y22Y|RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Silent_p.Y97Y	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	43					adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGATAACCCCGTAGTGGATCC	0.532																																																0													142	114	124					1																	151789698		2203	4300	6503	SO:0001819	synonymous_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.129C>T	1.37:g.151789698G>A			Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	CCDS1004.1																																																																																				0.532	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			A	151789698	G	A	151789698	2	1	183	1	0	0	0	0	0	0	0	1	13536	1140	40	1		1	RORC	1	151789698	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	3908	151789698	97460923	34	10731											
SPRR3	6707	broad.mit.edu	37	1	152975911	152975911	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:152975911A>G	ENST00000295367.4	+	2	457	c.415A>G	c.(415-417)Acc>Gcc	p.T139A	SPRR3_ENST00000542696.1_Missense_Mutation_p.T131A|SPRR3_ENST00000331860.3_Missense_Mutation_p.T139A	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	139	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAGGATACACCAAAGTTCC	0.527																																																0													89	79	83					1																	152975911		2203	4300	6503	SO:0001583	missense	6707			AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.415A>G	1.37:g.152975911A>G	ENSP00000295367:p.Thr139Ala		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Missense_Mutation	SNP	ENST00000295367.4	37	CCDS1033.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351068	0.24512	.	.	ENSG00000163209	ENST00000331860;ENST00000443178;ENST00000295367;ENST00000542696	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	3.67	-3.04	0.05412	.	.	.	.	.	T	0.02807	0.0084	L	0.39898	1.24	0.09310	N	1	B;B	0.25206	0.12;0.062	B;B	0.23574	0.047;0.033	T	0.42649	-0.9439	9	0.27082	T	0.32	.	11.6168	0.51094	0.4012:0.5987:0.0:0.0	.	131;139	F5GZ12;Q9UBC9	.;SPRR3_HUMAN	A	139;139;139;131	ENSP00000330391:T139A;ENSP00000402016:T139A;ENSP00000295367:T139A;ENSP00000441477:T131A	ENSP00000295367:T139A	T	+	1	0	SPRR3	151242535	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.676000	0.05221	-0.249000	0.09569	0.416000	0.27883	ACC		0.527	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		G	152975911	A	G	152975911	3	3	183	1	0	0	0	0	1	0	0	0	15108	159	6	3	417	3	SPRR3	1	152975911	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1186213	152975911	96274710	35	10732											
DENND4B	9909	broad.mit.edu	37	1	153904719	153904719	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:153904719G>A	ENST00000361217.4	-	24	4375	c.3957C>T	c.(3955-3957)ggC>ggT	p.G1319G	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1319					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCACCAGGCCTGGTAGAA	0.587																																																0													40	45	43					1																	153904719		1985	4175	6160	SO:0001819	synonymous_variant	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3957C>T	1.37:g.153904719G>A			Q5T4K0	Silent	SNP	ENST00000361217.4	37	CCDS44228.1																																																																																				0.587	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		A	153904719	G	A	153904719	2	1	183	1	0	0	0	0	0	0	0	1	4436	1190	42	2		2	DENND4B	1	153904719	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	928808	153904719	95345902	36	10733											
UBAP2L	9898	broad.mit.edu	37	1	154227752	154227752	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:154227752C>T	ENST00000361546.2	+	16	2076	c.2034C>T	c.(2032-2034)ggC>ggT	p.G678G	UBAP2L_ENST00000271877.7_Silent_p.G689G|UBAP2L_ENST00000428931.1_Silent_p.G678G|AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000343815.6_Silent_p.G678G			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	678					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTTGGGTGGCTTGAGCCACA	0.493																																																0													170	150	157					1																	154227752		2203	4300	6503	SO:0001819	synonymous_variant	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2034C>T	1.37:g.154227752C>T			B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Silent	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339929	0.24339	.	.	ENSG00000143569	ENST00000433615	.	.	.	5.72	3.79	0.43588	.	.	.	.	.	T	0.48786	0.1519	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48658	-0.9016	4	.	.	.	-6.5778	10.8807	0.46937	0.0:0.7987:0.1296:0.0717	.	.	.	.	F	9	.	.	L	+	1	0	UBAP2L	152494376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.492000	0.35594	1.367000	0.46095	0.655000	0.94253	CTT		0.493	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		T	154227752	C	T	154227752	2	4	183	1	0	0	0	0	0	0	0	1	16843	784	28	2		2	UBAP2L	1	154227752	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	323033	154227752	95022869	37	10734											
IL6R	3570	broad.mit.edu	37	1	154408588	154408588	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:154408588T>C	ENST00000368485.3	+	6	1386		c.e6+2		IL6R_ENST00000344086.4_Splice_Site|IL6R_ENST00000507256.1_Intron	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor						acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CTTGGACAGGTACTGCGGTGG	0.587																																																0													90	79	83					1																	154408588		2203	4300	6503	SO:0001630	splice_region_variant	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.949+2T>C	1.37:g.154408588T>C			A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Splice_Site	SNP	ENST00000368485.3	37	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053438	0.36181	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000476006;ENST00000515190	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4486	0.50138	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL6R	152675212	1.000000	0.71417	0.998000	0.56505	0.308000	0.27856	3.874000	0.56101	1.959000	0.56917	0.533000	0.62120	.		0.587	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565	Intron	C	154408588	T	C	154408588	5	2	183	1	0	0	0	0	0	0	1	0	7704	1652	57	3	973	3	IL6R	1	154408588	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	180836	154408588	94842033	38	10735											
FLAD1	80308	broad.mit.edu	37	1	154965266	154965266	+	Intron	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:154965266A>G	ENST00000292180.3	+	6	1950				LENEP_ENST00000392487.1_5'Flank|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Silent_p.*447*|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368428.1_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1						FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCGAGGGTAAGGGTATTAGG	0.522																																																0													127	123	124					1																	154965266		2203	4300	6503	SO:0001627	intron_variant	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1628+4A>G	1.37:g.154965266A>G			Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	ENST00000292180.3	37	CCDS1078.1																																																																																				0.522	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		G	154965266	A	G	154965266	1	3	183	0	1	0	0	0	0	0	0	0	5922	79	3	3		3	FLAD1	1	154965266	Intron	SNP	A	TCGA-B0-5098-01A-01D-1421-08	556678	154965266	94285355	39	10736											
DCST2	127579	broad.mit.edu	37	1	154997047	154997047	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:154997047A>G	ENST00000368424.3	-	11	1701	c.1643T>C	c.(1642-1644)cTg>cCg	p.L548P	DCST2_ENST00000295536.5_Missense_Mutation_p.L548P	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	548						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCGGCGGCTCAGAAGTACATT	0.612																																																0													83	70	75					1																	154997047		2203	4300	6503	SO:0001583	missense	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1643T>C	1.37:g.154997047A>G	ENSP00000357409:p.Leu548Pro		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305156	0.60305	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.38077	1.16;1.18	4.14	4.14	0.48551	.	0.227352	0.28225	N	0.016131	T	0.37652	0.1011	L	0.42245	1.32	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.27673	-1.0067	10	0.59425	D	0.04	-15.4487	10.772	0.46327	1.0:0.0:0.0:0.0	.	548	Q5T1A1	DCST2_HUMAN	P	548	ENSP00000357409:L548P;ENSP00000295536:L548P	ENSP00000295536:L548P	L	-	2	0	DCST2	153263671	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	3.860000	0.55995	1.742000	0.51746	0.379000	0.24179	CTG		0.612	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		G	154997047	A	G	154997047	3	3	183	1	0	0	0	0	1	0	0	0	4305	188	7	3	698	3	DCST2	1	154997047	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	31781	154997047	94253574	40	10737											
UBQLN4	56893	broad.mit.edu	37	1	156011344	156011344	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:156011344delC	ENST00000368309.3	-	10	1677	c.1585delG	c.(1585-1587)gctfs	p.A529fs		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	529					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GCGCTGGAAGCCCCTGTTGGA	0.627																																																0													48	48	48					1																	156011344		2203	4300	6503	SO:0001589	frameshift_variant	56893			BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"Ubiquilin family"	1237	protein-coding gene	gene with protein product	"ataxin-1 ubiquitin-like interacting protein"	605440	"chromosome 1 open reading frame 6"	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1585delG	1.37:g.156011344delC	ENSP00000357292:p.Ala529fs		A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Frame_Shift_Del	DEL	ENST00000368309.3	37	CCDS1127.1																																																																																				0.627	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		-	156011344	C	-	156011344	7	5	183	1	0	1	0	1	0	0	0	0	16904	739	26	0	228	0	UBQLN4	1	156011344	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	1014297	156011344	93239277	41	10738											
NES	10763	broad.mit.edu	37	1	156642564	156642564	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:156642564A>G	ENST00000368223.3	-	4	1548	c.1416T>C	c.(1414-1416)ccT>ccC	p.P472P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	472	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGTGGTCAGGGCTGAGGG	0.617																																																0													80	80	80					1																	156642564		2203	4300	6503	SO:0001819	synonymous_variant	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1416T>C	1.37:g.156642564A>G			O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	CCDS1151.1																																																																																				0.617	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		G	156642564	A	G	156642564	2	3	183	1	0	0	0	0	0	0	0	1	10339	175	7	3		3	NES	1	156642564	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	631220	156642564	92608057	42	10739											
KIRREL	55243	broad.mit.edu	37	1	158064480	158064480	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:158064480C>A	ENST00000359209.6	+	15	1911	c.1844C>A	c.(1843-1845)cCg>cAg	p.P615Q	KIRREL_ENST00000392272.2_Missense_Mutation_p.P512Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.P515Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.P451Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.P631Q|KIRREL_ENST00000368172.1_Missense_Mutation_p.P429Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	615					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GAAGACCGCCCGTCTTCCAGG	0.642																																																0													58	62	60					1																	158064480		2203	4300	6503	SO:0001583	missense	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1844C>A	1.37:g.158064480C>A	ENSP00000352138:p.Pro615Gln		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292859	0.80914	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.70869	0.44;-0.52;0.12;-0.07;-0.08;0.3	4.38	4.38	0.52667	.	0.000000	0.42964	D	0.000637	T	0.67961	0.2949	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.69078	0.995;0.986;0.997;0.975	P;P;D;P	0.63597	0.878;0.689;0.916;0.6	T	0.65429	-0.6170	10	0.27785	T	0.31	-23.6934	14.4805	0.67579	0.0:1.0:0.0:0.0	.	515;451;429;615	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	Q	451;631;512;615;515;429	ENSP00000353202:P451Q;ENSP00000357155:P631Q;ENSP00000376098:P512Q;ENSP00000352138:P615Q;ENSP00000389674:P515Q;ENSP00000357154:P429Q	ENSP00000352138:P615Q	P	+	2	0	KIRREL	156331104	.	.	0.878000	0.34440	0.903000	0.53119	.	.	2.255000	0.74692	0.462000	0.41574	CCG		0.642	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		A	158064480	C	A	158064480	3	1	183	1	0	0	0	0	1	0	0	0	8326	652	23	4	1902	4	KIRREL	1	158064480	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1421916	158064480	91186141	43	10740											
CD1B	910	broad.mit.edu	37	1	158301156	158301156	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:158301156G>A	ENST00000368168.3	-	1	165	c.58C>T	c.(58-60)Cat>Tat	p.H20Y		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	20					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CTCTTACCATGTTCACTGTTA	0.483																																																0													83	74	77					1																	158301156		2203	4300	6503	SO:0001583	missense	910			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.58C>T	1.37:g.158301156G>A	ENSP00000357150:p.His20Tyr		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	6.962	0.547453	0.13312	.	.	ENSG00000158485	ENST00000368168	T	0.01313	5.02	3.14	0.192	0.15134	.	4.624820	0.01274	N	0.009534	T	0.00468	0.0015	L	0.42245	1.32	0.09310	N	1	P;B	0.46859	0.885;0.029	B;B	0.30495	0.116;0.005	T	0.47971	-0.9075	10	0.87932	D	0	.	3.412	0.07361	0.0:0.4965:0.2364:0.2671	.	20;20	B4E0D2;P29016	.;CD1B_HUMAN	Y	20	ENSP00000357150:H20Y	ENSP00000357150:H20Y	H	-	1	0	CD1B	156567780	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.043000	0.12043	0.040000	0.15660	-0.884000	0.02946	CAT		0.483	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		A	158301156	G	A	158301156	3	1	183	1	0	0	0	0	1	0	0	0	2977	1377	48	2	967	2	CD1B	1	158301156	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	236676	158301156	90949465	44	10741											
COPA	1314	broad.mit.edu	37	1	160295426	160295427	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:160295426_160295427insT	ENST00000241704.7	-	7	741_742	c.512_513insA	c.(511-513)aacfs	p.N171fs	Y_RNA_ENST00000365208.1_RNA|COPA_ENST00000368069.3_Frame_Shift_Ins_p.N171fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	171					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGGGACAGGTTTTTTTTCCT	0.406																																																0																																										SO:0001589	frameshift_variant	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.513dupA	1.37:g.160295434_160295434dupT	ENSP00000241704:p.Asn171fs		Q5T201|Q8IXZ9	Frame_Shift_Ins	INS	ENST00000241704.7	37	CCDS1202.1																																																																																				0.406	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		T	160295427	-	T	160295426	7	5	183	1	0	1	1	0	0	0	0	0	3729	1252	44	0	3296	0	COPA	1	160295426	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	1994270	160295426	88955195	45	10742											
ARHGAP30	257106	broad.mit.edu	37	1	161026313	161026313	+	Frame_Shift_Del	DEL	A	A	-	rs17854839		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:161026313delA	ENST00000368013.3	-	3	530	c.210delT	c.(208-210)tttfs	p.F70fs	ARHGAP30_ENST00000368016.3_Frame_Shift_Del_p.F70fs|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	70	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.		F -> L (in dbSNP:rs17854839). {ECO:0000269|PubMed:15489334}.		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCTCTGACTCAAATTCCTGCC	0.592																																																0													60	54	56					1																	161026313		2203	4300	6503	SO:0001589	frameshift_variant	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.210delT	1.37:g.161026313delA	ENSP00000356992:p.Phe70fs		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Frame_Shift_Del	DEL	ENST00000368013.3	37	CCDS30918.1																																																																																				0.592	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		-	161026313	A	-	161026313	7	5	183	1	0	1	0	1	0	0	0	0	879	127	5	0	3135	0	ARHGAP30	1	161026313	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	730887	161026313	88224308	46	10743											
FAM78B	149297	broad.mit.edu	37	1	166135352	166135352	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:166135352T>A	ENST00000338353.3	-	2	723	c.134A>T	c.(133-135)aAg>aTg	p.K45M	RP11-9L18.3_ENST00000451784.1_RNA|FAM78B_ENST00000354422.3_Missense_Mutation_p.K45M			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	45										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GTAGGGGGTCTTGTAGCGCAG	0.652																																																0													87	64	72					1																	166135352		2203	4300	6503	SO:0001583	missense	149297			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.134A>T	1.37:g.166135352T>A	ENSP00000339681:p.Lys45Met		B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.736187	0.69189	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	4.29	4.29	0.51040	.	0.113431	0.53938	D	0.000046	T	0.43033	0.1229	L	0.50333	1.59	0.44447	D	0.997374	P	0.46142	0.873	P	0.49140	0.601	T	0.53222	-0.8469	8	0.87932	D	0	-4.9026	11.4309	0.50041	0.0:0.0:0.0:1.0	.	45	Q5VT40	FA78B_HUMAN	M	45	.	ENSP00000339681:K45M	K	-	2	0	FAM78B	164401976	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.464000	0.66719	1.789000	0.52484	0.383000	0.25322	AAG		0.652	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		A	166135352	T	A	166135352	3	1	183	1	0	0	0	0	1	0	0	0	5629	1609	56	5	659	5	FAM78B	1	166135352	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	5109039	166135352	83115269	47	10744											
ABL2	27	broad.mit.edu	37	1	179090956	179090956	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:179090956A>G	ENST00000502732.1	-	5	937	c.734T>C	c.(733-735)gTa>gCa	p.V245A	ABL2_ENST00000512653.1_Missense_Mutation_p.V230A|ABL2_ENST00000408940.3_Missense_Mutation_p.V209A|ABL2_ENST00000511413.1_Missense_Mutation_p.V245A|ABL2_ENST00000344730.3_Missense_Mutation_p.V230A|ABL2_ENST00000504405.1_Missense_Mutation_p.V209A|ABL2_ENST00000392043.3_Missense_Mutation_p.V224A|ABL2_ENST00000367623.4_Missense_Mutation_p.V224A|ABL2_ENST00000507173.1_Missense_Mutation_p.V224A	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	245	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTGATGGTGTACAAGCTCTGC	0.463			T	ETV6	AML																																		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0													69	61	64					1																	179090956		2203	4300	6503	SO:0001583	missense	27			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.734T>C	1.37:g.179090956A>G	ENSP00000427562:p.Val245Ala		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373766	0.82573	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.2	5.2	0.72013	SH2 motif (5);	0.000000	0.47093	D	0.000254	T	0.72342	0.3448	H	0.97077	3.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.87578	0.992;0.994;0.994;0.996;0.996;0.993;0.997;0.998;0.996;0.998;0.996	T	0.82554	-0.0399	10	0.87932	D	0	.	14.2342	0.65913	1.0:0.0:0.0:0.0	.	224;224;245;209;209;224;209;245;230;209;230	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	A	245;209;230;230;209;224;224;245;224	ENSP00000427562:V245A;ENSP00000386152:V209A;ENSP00000339209:V230A;ENSP00000423578:V230A;ENSP00000426831:V209A;ENSP00000356595:V224A;ENSP00000423413:V224A;ENSP00000424697:V245A;ENSP00000375897:V224A	ENSP00000339209:V230A	V	-	2	0	ABL2	177357579	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	9.248000	0.95456	1.958000	0.56883	0.533000	0.62120	GTA		0.463	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		G	179090956	A	G	179090956	3	3	183	1	0	0	0	0	1	0	0	0	93	391	14	3	2891	3	ABL2	1	179090956	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	12955604	179090956	70159665	48	10745											
SOAT1	6646	broad.mit.edu	37	1	179316774	179316774	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:179316774A>G	ENST00000367619.3	+	12	1300	c.1157A>G	c.(1156-1158)cAc>cGc	p.H386R	SOAT1_ENST00000535686.1_Missense_Mutation_p.H122R|SOAT1_ENST00000539888.1_Missense_Mutation_p.H321R|SOAT1_ENST00000540564.1_Missense_Mutation_p.H328R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	386					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCCTTTTTGCACTGCTGGCTC	0.338																																																0													234	207	216					1																	179316774		2203	4300	6503	SO:0001583	missense	6646			L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1157A>G	1.37:g.179316774A>G	ENSP00000356591:p.His386Arg		A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.223451	0.79464	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.81	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.89022	0.6597	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89997	0.4112	10	0.87932	D	0	-13.5365	9.8064	0.40795	0.9195:0.0:0.0805:0.0	.	328;386	A8K3P4;P35610	.;SOAT1_HUMAN	R	321;328;122;386	ENSP00000441356:H321R;ENSP00000445315:H328R;ENSP00000442503:H122R;ENSP00000356591:H386R	ENSP00000356591:H386R	H	+	2	0	SOAT1	177583397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.210000	0.95106	1.039000	0.40074	0.482000	0.46254	CAC		0.338	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		G	179316774	A	G	179316774	3	3	183	1	0	0	0	0	1	0	0	0	14916	159	6	3	1199	3	SOAT1	1	179316774	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	225818	179316774	69933847	49	10746											
RNASEL	6041	broad.mit.edu	37	1	182550456	182550456	+	Silent	SNP	G	G	A	rs183141948	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:182550456G>A	ENST00000367559.3	-	5	2062	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	RNASEL_ENST00000444138.1_Silent_p.S603S|RNASEL_ENST00000539397.1_Silent_p.S603S	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	603	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTTTGATGTCGGATTCATTTC	0.428													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		15620	0.0		0.0	False		,,,				2504	0.0															0								G		0,4406		0,0,2203	256	239	244		1809	-10.8	0.5	1		244	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNASEL	NM_021133.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		603/742	182550456	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1809C>T	1.37:g.182550456G>A			Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	CCDS1347.1																																																																																				0.428	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		A	182550456	G	A	182550456	2	1	183	1	0	0	0	0	0	0	0	1	13422	1103	39	1		1	RNASEL	1	182550456	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	3233682	182550456	66700165	50	10747											
FAM5C	339479	broad.mit.edu	37	1	190203594	190203594	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:190203594C>T	ENST00000367462.3	-	5	863	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	BRINP3_ENST00000534846.1_Missense_Mutation_p.R109Q	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	211	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R211Q(1)									AGGACCAGTCCGTGTTTCTGT	0.383																																																1	Substitution - Missense(1)	endometrium(1)											123	105	112					1																	190203594		2203	4300	6503	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.632G>A	1.37:g.190203594C>T	ENSP00000356432:p.Arg211Gln		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012428	0.75046	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.22539	2.18;1.95	5.87	5.87	0.94306	Membrane attack complex component/perforin (MACPF) domain (1);	0.064020	0.64402	D	0.000014	T	0.25975	0.0633	M	0.71206	2.165	0.52099	D	0.999946	P;P	0.50710	0.938;0.897	B;B	0.36567	0.228;0.114	T	0.14699	-1.0463	10	0.87932	D	0	.	17.6929	0.88273	0.0:1.0:0.0:0.0	.	109;211	B7Z260;Q76B58	.;FAM5C_HUMAN	Q	211;109	ENSP00000356432:R211Q;ENSP00000438022:R109Q	ENSP00000356432:R211Q	R	-	2	0	FAM5C	188470217	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.968000	0.70413	2.775000	0.95449	0.650000	0.86243	CGG		0.383	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		T	190203594	C	T	190203594	3	4	183	1	0	0	0	0	1	0	0	0	5596	652	23	1	1684	1	FAM5C	1	190203594	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	7653138	190203594	59047027	51	10748											
KCNT2	343450	broad.mit.edu	37	1	196274362	196274362	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:196274362A>G	ENST00000294725.9	-	22	3511		c.e22+1		KCNT2_ENST00000367433.5_Splice_Site|KCNT2_ENST00000498426.1_Splice_Site|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTGGGGTCTTACCTTTTCCAG	0.333																																																0													113	105	108					1																	196274362		2203	4300	6503	SO:0001630	splice_region_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2595+1T>C	1.37:g.196274362A>G			Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266200	0.80358	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.324	0.66507	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194540985	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.063000	0.93927	2.031000	0.59945	0.528000	0.53228	.		0.333	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Intron	G	196274362	A	G	196274362	5	3	183	1	0	0	0	0	0	0	1	0	8094	405	14	3	838	3	KCNT2	1	196274362	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	6070768	196274362	52976259	52	10749											
NAV1	89796	broad.mit.edu	37	1	201779752	201779752	+	Missense_Mutation	SNP	G	G	A	rs369401084		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:201779752G>A	ENST00000367296.4	+	24	5083	c.4663G>A	c.(4663-4665)Gtc>Atc	p.V1555I	NAV1_ENST00000367295.1_Missense_Mutation_p.V1161I|NAV1_ENST00000367302.1_Missense_Mutation_p.V1508I|NAV1_ENST00000367297.4_Missense_Mutation_p.V1547I|NAV1_ENST00000367300.3_Missense_Mutation_p.V1495I|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.V1552I|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1555					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCGGCGCCTCGTCCTCTCGGG	0.622																																																0								G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	55	48	50		3481,4663	2.8	1	1		50	0,8600		0,0,4300	no	missense,missense	NAV1	NM_001167738.1,NM_020443.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	1161/1484,1555/1878	201779752	1,13005	2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4663G>A	1.37:g.201779752G>A	ENSP00000356265:p.Val1555Ile		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551016	0.13374	2.27E-4	0.0	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	4.85	2.83	0.33086	.	0.222920	0.35805	N	0.002976	T	0.59851	0.2224	N	0.01874	-0.695	0.39738	D	0.971703	B;B	0.18310	0.027;0.003	B;B	0.14578	0.011;0.006	T	0.58470	-0.7631	10	0.02654	T	1	-28.1902	4.4719	0.11717	0.4304:0.0:0.5696:0.0	.	1161;1552	Q8NEY1-5;Q8NEY1-3	.;.	I	1508;1555;1552;1547;1495;1161	ENSP00000356271:V1508I;ENSP00000356265:V1555I;ENSP00000295624:V1552I;ENSP00000356266:V1547I;ENSP00000356269:V1495I;ENSP00000356264:V1161I	ENSP00000295624:V1552I	V	+	1	0	NAV1	200046375	0.995000	0.38212	0.988000	0.46212	0.995000	0.86356	2.691000	0.47010	1.253000	0.44018	0.585000	0.79938	GTC		0.622	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		A	201779752	G	A	201779752	3	1	183	1	0	0	0	0	1	0	0	0	10185	1145	40	1	4814	1	NAV1	1	201779752	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	5505390	201779752	47470869	53	10750											
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:204228411delC	ENST00000272203.3	-	8	1298	c.982delG	c.(982-984)gtafs	p.V328fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.V348fs|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	328	Pro-rich.							p.V328fs*172(2)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGGGGTACCCCCCGGCGC	0.622																																																2	Deletion - Frameshift(2)	large_intestine(2)											43	47	46					1																	204228411		2203	4300	6503	SO:0001589	frameshift_variant	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.982delG	1.37:g.204228411delC	ENSP00000272203:p.Val328fs		A7MD51|Q5VTI6	Frame_Shift_Del	DEL	ENST00000272203.3	37	CCDS1444.1																																																																																				0.622	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		-	204228411	C	-	204228411	7	5	183	1	0	1	0	1	0	0	0	0	12062	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	2448659	204228411	45022210	54	10751											
NFASC	23114	broad.mit.edu	37	1	204948496	204948496	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:204948496T>C	ENST00000401399.1	+	18	2184	c.1985T>C	c.(1984-1986)gTc>gCc	p.V662A	NFASC_ENST00000404907.1_Missense_Mutation_p.V658A|NFASC_ENST00000367171.4_Missense_Mutation_p.V647A|NFASC_ENST00000367170.4_Missense_Mutation_p.V662A|NFASC_ENST00000539706.1_Missense_Mutation_p.V658A|NFASC_ENST00000338586.6_Missense_Mutation_p.V662A|NFASC_ENST00000339876.6_Missense_Mutation_p.V662A|NFASC_ENST00000404076.1_Missense_Mutation_p.V641A|NFASC_ENST00000360049.4_Missense_Mutation_p.V658A|NFASC_ENST00000367172.4_Missense_Mutation_p.V662A|NFASC_ENST00000513543.1_Missense_Mutation_p.V658A|NFASC_ENST00000338515.6_Missense_Mutation_p.V662A|NFASC_ENST00000367169.4_Missense_Mutation_p.V662A			O94856	NFASC_HUMAN	neurofascin	662	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCAGACTACGTCGTCCAGTTT	0.512																																																0													93	92	92					1																	204948496		2203	4300	6503	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1985T>C	1.37:g.204948496T>C	ENSP00000385637:p.Val662Ala		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.88|12.88	2.070718|2.070718	0.36566|0.36566	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.56611	.|0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.124579	.|0.34802	.|N	.|0.003669	T|T	0.44350|0.44350	0.1289|0.1289	L|L	0.41079|0.41079	1.255|1.255	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B;B;B;P;P	.|0.41710	.|0.413;0.029;0.145;0.125;0.76;0.654	.|B;B;B;B;B;B	.|0.37650	.|0.252;0.032;0.074;0.115;0.255;0.242	T|T	0.41805|0.41805	-0.9488|-0.9488	5|10	.|0.38643	.|T	.|0.18	.|.	14.6867|14.6867	0.69055|0.69055	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|662;673;658;647;662;658	.|O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.	P|A	632|662;647;662;662;662;662;673;658;658;662;641;662;658;658;649	.|ENSP00000356140:V662A;ENSP00000356139:V647A;ENSP00000356138:V662A;ENSP00000342128:V662A;ENSP00000344786:V662A;ENSP00000343509:V662A;ENSP00000438614:V658A;ENSP00000353154:V658A;ENSP00000356137:V662A;ENSP00000385676:V641A;ENSP00000385637:V662A;ENSP00000384061:V658A;ENSP00000425908:V658A;ENSP00000415031:V649A	.|ENSP00000295776:V673A	S|V	+|+	1|2	0|0	NFASC|NFASC	203215119|203215119	0.982000|0.982000	0.34865|0.34865	0.019000|0.019000	0.16419|0.16419	0.192000|0.192000	0.23643|0.23643	7.870000|7.870000	0.87175|0.87175	1.951000|1.951000	0.56629|0.56629	0.533000|0.533000	0.62120|0.62120	TCG|GTC		0.512	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		C	204948496	T	C	204948496	3	2	183	1	0	0	0	0	1	0	0	0	10361	1667	58	3	2135	3	NFASC	1	204948496	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	720085	204948496	44302125	55	10752											
TMCC2	9911	broad.mit.edu	37	1	205238671	205238671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:205238671delC	ENST00000358024.3	+	3	1730	c.1341delC	c.(1339-1341)gacfs	p.D447fs	TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs|TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	447						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACCTGAAGGACCCCCTGGAAG	0.642																																																0													45	52	49					1																	205238671		2203	4300	6503	SO:0001589	frameshift_variant	9911			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1341delC	1.37:g.205238671delC	ENSP00000350718:p.Asp447fs		A2RRH3|B7Z1P7|Q6ZN09	Frame_Shift_Del	DEL	ENST00000358024.3	37	CCDS30984.1																																																																																				0.642	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		-	205238671	C	-	205238671	7	5	183	1	0	1	0	1	0	0	0	0	15998	506	18	0	1351	0	TMCC2	1	205238671	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	290175	205238671	44011950	56	10753											
SLC26A9	115019	broad.mit.edu	37	1	205888081	205888081	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:205888081C>T	ENST00000367135.3	-	19	2256	c.2143G>A	c.(2143-2145)Gtc>Atc	p.V715I	SLC26A9_ENST00000367134.2_Missense_Mutation_p.V715I|SLC26A9_ENST00000340781.4_Missense_Mutation_p.V715I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	715	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCCTCAAAGACGCCTCCATGG	0.512											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													298	291	293					1																	205888081		2203	4300	6503	SO:0001583	missense	115019			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2143G>A	1.37:g.205888081C>T	ENSP00000356103:p.Val715Ile	2155	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306369	0.40795	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.87887	-2.31;-2.31;-2.31	5.2	1.15	0.20763	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.417445	0.23724	N	0.045188	T	0.76630	0.4014	L	0.31664	0.95	0.26651	N	0.972093	B;B	0.19583	0.008;0.037	B;B	0.16722	0.005;0.016	T	0.66364	-0.5942	10	0.72032	D	0.01	.	5.813	0.18477	0.0:0.5865:0.1281:0.2854	.	715;715	Q7LBE3;B1AVM8	S26A9_HUMAN;.	I	715	ENSP00000341682:V715I;ENSP00000356103:V715I;ENSP00000356102:V715I	ENSP00000341682:V715I	V	-	1	0	SLC26A9	204154704	0.061000	0.20836	0.331000	0.25455	0.982000	0.71751	0.383000	0.20651	0.025000	0.15241	0.563000	0.77884	GTC		0.512	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		T	205888081	C	T	205888081	3	4	183	1	0	0	0	0	1	0	0	0	14530	536	19	1	540	1	SLC26A9	1	205888081	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	649410	205888081	43362540	57	10754											
C4BPA	722	broad.mit.edu	37	1	207300202	207300202	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:207300202A>G	ENST00000367070.3	+	7	1045	c.851A>G	c.(850-852)gAt>gGt	p.D284G		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	284	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGTGATGCTGATAGCAAATGG	0.403																																																0													178	150	160					1																	207300202		2203	4300	6503	SO:0001583	missense	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.851A>G	1.37:g.207300202A>G	ENSP00000356037:p.Asp284Gly		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.052883	0.36181	.	.	ENSG00000123838	ENST00000367070	T	0.68181	-0.31	5.61	4.49	0.54785	Complement control module (2);Sushi/SCR/CCP (3);	0.333263	0.25680	N	0.029005	T	0.66268	0.2772	L	0.55213	1.73	0.09310	N	1	B	0.29481	0.245	B	0.41202	0.35	T	0.60782	-0.7195	10	0.48119	T	0.1	.	8.4965	0.33132	0.9117:0.0:0.0883:0.0	.	284	P04003	C4BPA_HUMAN	G	284	ENSP00000356037:D284G	ENSP00000356037:D284G	D	+	2	0	C4BPA	205366825	0.028000	0.19301	0.002000	0.10522	0.115000	0.19883	3.238000	0.51352	0.945000	0.37605	-0.386000	0.06593	GAT		0.403	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			G	207300202	A	G	207300202	3	3	183	1	0	0	0	0	1	0	0	0	2251	333	12	3	873	3	C4BPA	1	207300202	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1412121	207300202	41950419	58	10755											
CR2	1380	broad.mit.edu	37	1	207643042	207643043	+	Frame_Shift_Ins	INS	-	-	T	rs373313146		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:207643042_207643043insT	ENST00000367058.3	+	6	1009_1010	c.820_821insT	c.(820-822)attfs	p.I274fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Frame_Shift_Ins_p.I274fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.I274fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.I274fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	274	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCCCTAGAAATTTTTTGCCCA	0.416																																																0																																										SO:0001589	frameshift_variant	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.826dupT	1.37:g.207643048_207643048dupT	ENSP00000356025:p.Ile274fs		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	CCDS1478.1																																																																																				0.416	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		T	207643043	-	T	207643042	7	5	183	1	0	1	1	0	0	0	0	0	3844	101	4	0	842	0	CR2	1	207643042	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	342840	207643042	41607579	59	10756											
MARK1	4139	broad.mit.edu	37	1	220808856	220808856	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:220808856C>T	ENST00000366917.4	+	12	1527	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	MARK1_ENST00000402574.1_Missense_Mutation_p.R286C|MARK1_ENST00000366918.4_Missense_Mutation_p.R399C					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAAGCAGCGGCGTTTCAGTGA	0.463																																																0													73	69	70					1																	220808856		2203	4300	6503	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1261C>T	1.37:g.220808856C>T	ENSP00000355884:p.Arg421Cys			Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414215	0.83449	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.79247	-1.14;-1.0;-1.25	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.89022	0.6597	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.972;0.998;0.985;0.998	D	0.90036	0.4138	10	0.87932	D	0	.	15.0828	0.72127	0.1417:0.8583:0.0:0.0	.	421;286;421;399	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	C	286;399;421	ENSP00000386017:R286C;ENSP00000355885:R399C;ENSP00000355884:R421C	ENSP00000355884:R421C	R	+	1	0	MARK1	218875479	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.707000	0.61852	2.813000	0.96785	0.561000	0.74099	CGT		0.463	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			T	220808856	C	T	220808856	3	4	183	1	0	0	0	0	1	0	0	0	9314	768	27	1	1307	1	MARK1	1	220808856	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	13165814	220808856	28441765	60	10757											
NVL	4931	broad.mit.edu	37	1	224505589	224505589	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:224505589C>T	ENST00000281701.6	-	3	434	c.175G>A	c.(175-177)Gta>Ata	p.V59I	NVL_ENST00000482491.1_5'UTR|NVL_ENST00000469075.1_Missense_Mutation_p.V59I|NVL_ENST00000361463.3_5'UTR|NVL_ENST00000340871.4_5'UTR|NVL_ENST00000391875.2_5'UTR|NVL_ENST00000468673.1_5'UTR	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	59						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CCTTTTTCTACCTGAATCCTA	0.294																																																0													88	89	89					1																	224505589		2200	4298	6498	SO:0001583	missense	4931			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"ATPases / AAA-type"	8070	protein-coding gene	gene with protein product	"Nuclear valosin-containing protein-like", "nuclear VCP-like protein"	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.175G>A	1.37:g.224505589C>T	ENSP00000281701:p.Val59Ile		B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.832234|2.832234	0.50845|0.50845	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000469968|ENST00000281701;ENST00000469075;ENST00000488718;ENST00000461546	.|D;D	.|0.97256	.|-4.31;-4.07	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98403|0.98403	0.9469|0.9469	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.996;0.984;0.999	.|D;D;D	.|0.78314	.|0.99;0.967;0.991	D|D	0.99478|0.99478	1.0947|1.0947	5|10	.|0.87932	.|D	.|0	-19.9224|-19.9224	19.2961|19.2961	0.94122|0.94122	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|59;59;59	.|B4DF43;B4DP98;O15381	.|.;.;NVL_HUMAN	D|I	32|59	.|ENSP00000281701:V59I;ENSP00000417826:V59I	.|ENSP00000281701:V59I	G|V	-|-	2|1	0|0	NVL|NVL	222572212|222572212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.937000|3.937000	0.56575|0.56575	2.546000|2.546000	0.85860|0.85860	0.650000|0.650000	0.86243|0.86243	GGT|GTA		0.294	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		T	224505589	C	T	224505589	3	4	183	1	0	0	0	0	1	0	0	0	10782	507	18	2	2479	2	NVL	1	224505589	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3696733	224505589	24745032	61	10758											
LEFTY2	7044	broad.mit.edu	37	1	226128690	226128690	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:226128690G>A	ENST00000366820.5	-	1	499	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	LEFTY2_ENST00000474493.1_5'Flank|LEFTY2_ENST00000420304.2_Silent_p.L51L	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	51					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGATGACCAGCTTCTCCATG	0.701																																					Colon(172;116 2643 9098 43333)											0													36	41	39					1																	226128690		2203	4299	6502	SO:0001819	synonymous_variant	7044			U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.151C>T	1.37:g.226128690G>A			B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	CCDS1549.1																																																																																				0.701	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		A	226128690	G	A	226128690	2	1	183	1	0	0	0	0	0	0	0	1	8718	962	34	2		2	LEFTY2	1	226128690	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1623101	226128690	23121931	62	10759											
RHOU	58480	broad.mit.edu	37	1	228879349	228879349	+	Missense_Mutation	SNP	G	G	T	rs570518944		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:228879349G>T	ENST00000366691.3	+	3	1305	c.639G>T	c.(637-639)gaG>gaT	p.E213D		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				ACCTCAAAGAGGTCTTTGATG	0.483																																																0													89	101	97					1																	228879349		2203	4300	6503	SO:0001583	missense	58480				CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"Ryu GTPase", "Wnt-1 responsive Cdc42 homolog", "2310026M05Rik", "GTP-binding protein like 1", "CDC42-like GTPase", "GTP-binding protein SB128", "ras-like gene family member U"	606366	"ras homolog gene family, member U"	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.639G>T	1.37:g.228879349G>T	ENSP00000355652:p.Glu213Asp			Missense_Mutation	SNP	ENST00000366691.3	37	CCDS1575.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333949	0.41297	.	.	ENSG00000116574	ENST00000366691	T	0.72835	-0.69	4.95	0.906	0.19314	.	0.045911	0.85682	N	0.000000	T	0.51702	0.1690	L	0.31804	0.96	0.50171	D	0.99985	B	0.14805	0.011	B	0.21546	0.035	T	0.24297	-1.0164	10	0.35671	T	0.21	.	4.156	0.10261	0.3668:0.1666:0.4666:0.0	.	213	Q7L0Q8	RHOU_HUMAN	D	213	ENSP00000355652:E213D	ENSP00000355652:E213D	E	+	3	2	RHOU	226945972	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	0.699000	0.25586	0.012000	0.14892	0.655000	0.94253	GAG		0.483	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205		T	228879349	G	T	228879349	3	4	183	1	0	0	0	0	1	0	0	0	13351	991	35	4	649	4	RHOU	1	228879349	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2750659	228879349	20371272	63	10760											
COG2	22796	broad.mit.edu	37	1	230805234	230805234	+	Missense_Mutation	SNP	G	G	A	rs201839796		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:230805234G>A	ENST00000366669.4	+	7	842	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	COG2_ENST00000535166.1_Missense_Mutation_p.A127T|COG2_ENST00000534989.1_Missense_Mutation_p.A184T|COG2_ENST00000366668.3_Missense_Mutation_p.A243T	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	243					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GACACGGGACGCGGAGGCCTT	0.488																																																0													94	78	83					1																	230805234		2203	4300	6503	SO:0001583	missense	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.727G>A	1.37:g.230805234G>A	ENSP00000355629:p.Ala243Thr		Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	36	5.698511	0.96802	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.56	5.56	0.83823	.	0.047507	0.85682	D	0.000000	T	0.58452	0.2123	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.939	T	0.55425	-0.8143	10	0.32370	T	0.25	-17.2375	19.5159	0.95165	0.0:0.0:1.0:0.0	.	243;243	Q86U99;Q14746	.;COG2_HUMAN	T	243;127;243;184	ENSP00000355629:A243T;ENSP00000445724:A127T;ENSP00000355628:A243T;ENSP00000440349:A184T	ENSP00000355628:A243T	A	+	1	0	COG2	228871857	1.000000	0.71417	0.286000	0.24833	0.952000	0.60782	9.588000	0.98232	2.621000	0.88768	0.655000	0.94253	GCG		0.488	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		A	230805234	G	A	230805234	3	1	183	1	0	0	0	0	1	0	0	0	3660	1087	38	1	753	1	COG2	1	230805234	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1925885	230805234	18445387	64	10761											
SIPA1L2	57568	broad.mit.edu	37	1	232581504	232581504	+	Missense_Mutation	SNP	T	T	C	rs535183446	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:232581504T>C	ENST00000366630.1	-	10	3482	c.3124A>G	c.(3124-3126)Atg>Gtg	p.M1042V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M1042V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.M116V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1042					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TATTCCACCATAGGGATCCGG	0.572													T|||	2	0.000399361	0.0015	0.0	5008	,	,		17843	0.0		0.0	False		,,,				2504	0.0															0													91	92	91					1																	232581504		1891	4115	6006	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3124A>G	1.37:g.232581504T>C	ENSP00000355589:p.Met1042Val		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	2.279	-0.365186	0.05103	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.62232	0.04;0.04;0.04	5.37	2.85	0.33270	.	0.095855	0.64402	D	0.000002	T	0.33059	0.0850	N	0.04880	-0.145	0.39944	D	0.974459	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.07462	-1.0771	10	0.13470	T	0.59	-26.0963	6.6697	0.23062	0.0:0.0745:0.2978:0.6278	.	1042;116	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	V	1042;1042;116	ENSP00000355589:M1042V;ENSP00000262861:M1042V;ENSP00000309102:M116V	ENSP00000262861:M1042V	M	-	1	0	SIPA1L2	230648127	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.221000	0.51215	0.857000	0.35407	0.529000	0.55759	ATG		0.572	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		C	232581504	T	C	232581504	3	2	183	1	0	0	0	0	1	0	0	0	14336	1406	49	3	2096	3	SIPA1L2	1	232581504	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1776270	232581504	16669117	65	10762											
SIPA1L2	57568	broad.mit.edu	37	1	232650521	232650521	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:232650521G>A	ENST00000366630.1	-	2	923	c.565C>T	c.(565-567)Cac>Tac	p.H189Y	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.H189Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	189					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TACTCCCTGTGCAGGGCAGCC	0.463																																																0													121	118	119					1																	232650521		1929	4134	6063	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.565C>T	1.37:g.232650521G>A	ENSP00000355589:p.His189Tyr		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070094	0.76301	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.44881	0.91;0.91	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.68593	2.085	0.58432	D	0.999999	D	0.54964	0.969	P	0.62382	0.901	T	0.63088	-0.6715	10	0.56958	D	0.05	-29.7701	18.9136	0.92496	0.0:0.0:1.0:0.0	.	189	Q9P2F8	SI1L2_HUMAN	Y	189	ENSP00000355589:H189Y;ENSP00000262861:H189Y	ENSP00000262861:H189Y	H	-	1	0	SIPA1L2	230717144	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.657000	0.98554	2.708000	0.92522	0.650000	0.86243	CAC		0.463	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		A	232650521	G	A	232650521	3	1	183	1	0	0	0	0	1	0	0	0	14336	1319	46	2	4687	2	SIPA1L2	1	232650521	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	69017	232650521	16600100	66	10763											
CNST	163882	broad.mit.edu	37	1	246810501	246810501	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:246810501T>C	ENST00000366513.4	+	9	1267	c.998T>C	c.(997-999)cTg>cCg	p.L333P	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.L333P	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	333					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GTGGAGCCCCTGGGGAGCAGT	0.458											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													78	81	80					1																	246810501		2203	4300	6503	SO:0001583	missense	163882			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.998T>C	1.37:g.246810501T>C	ENSP00000355470:p.Leu333Pro	2468	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	T	4.979	0.181875	0.09495	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.18016	2.25;2.24	5.12	-10.2	0.00374	.	2.798100	0.01171	N	0.006870	T	0.09379	0.0231	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.29766	0.168;0.256	B;B	0.28139	0.058;0.086	T	0.16808	-1.0390	10	0.23891	T	0.37	0.017	0.2429	0.00194	0.2057:0.1878:0.2885:0.318	.	333;333	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	P	333	ENSP00000355470:L333P;ENSP00000355469:L333P	ENSP00000355469:L333P	L	+	2	0	CNST	244877124	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.897000	0.04110	-4.586000	0.00041	0.383000	0.25322	CTG		0.458	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		C	246810501	T	C	246810501	3	2	183	1	0	0	0	0	1	0	0	0	3636	1580	55	3	1028	3	CNST	1	246810501	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	14159980	246810501	2440120	67	10764											
AHCTF1	25909	broad.mit.edu	37	1	247007131	247007131	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:247007131delT	ENST00000391829.2	-	34	6614	c.6491delA	c.(6490-6492)aacfs	p.N2164fs	AHCTF1_ENST00000326225.3_Frame_Shift_Del_p.N2173fs|AHCTF1_ENST00000366508.1_Frame_Shift_Del_p.N2199fs|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2164	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATTGGATGTGTTTTTTTGTCT	0.313																																					Colon(145;197 1800 4745 15099 26333)											0													71	68	69					1																	247007131		2201	4299	6500	SO:0001589	frameshift_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6491delA	1.37:g.247007131delT	ENSP00000375705:p.Asn2164fs		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Frame_Shift_Del	DEL	ENST00000391829.2	37																																																																																					0.313	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		-	247007131	T	-	247007131	7	5	183	1	0	1	0	1	0	0	0	0	408	1725	60	0	321	0	AHCTF1	1	247007131	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	196630	247007131	2243490	68	10765											
AHCTF1	25909	broad.mit.edu	37	1	247024444	247024444	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:247024444T>C	ENST00000391829.2	-	29	4012	c.3889A>G	c.(3889-3891)Agt>Ggt	p.S1297G	AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1306G|AHCTF1_ENST00000366508.1_Missense_Mutation_p.S1332G|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1297	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTCTAAACTTTGTGACCCC	0.453																																					Colon(145;197 1800 4745 15099 26333)											0													93	80	85					1																	247024444		2202	4299	6501	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3889A>G	1.37:g.247024444T>C	ENSP00000375705:p.Ser1297Gly		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		.	.	.	.	.	.	.	.	.	.	t	5.123	0.208282	0.09757	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.35973	1.28;1.29;1.29	5.84	2.12	0.27331	.	0.598969	0.17517	N	0.171417	T	0.24044	0.0582	L	0.42245	1.32	0.09310	N	1	B;B;B	0.14438	0.01;0.001;0.001	B;B;B	0.11329	0.006;0.003;0.002	T	0.22591	-1.0212	10	0.38643	T	0.18	-1.2945	1.3734	0.02215	0.1349:0.1533:0.2803:0.4315	.	158;1332;1297	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	G	1332;1306;1297	ENSP00000355464:S1332G;ENSP00000355465:S1306G;ENSP00000375705:S1297G	ENSP00000355465:S1306G	S	-	1	0	AHCTF1	245091067	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.036000	0.12185	0.160000	0.19432	-0.330000	0.08379	AGT		0.453	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		C	247024444	T	C	247024444	3	2	183	1	0	0	0	0	1	0	0	0	408	1609	56	3	2943	3	AHCTF1	1	247024444	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	17313	247024444	2226177	69	10766											
OR2T34	127068	broad.mit.edu	37	1	248738032	248738034	+	In_Frame_Del	DEL	CTG	CTG	-	rs147194614		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr1:248738032_248738034delCTG	ENST00000328782.2	-	1	46_48	c.25_27delCAG	c.(25-27)cagdel	p.Q9del		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTTTGATTCTGAGAAGTCTGA	0.448																																																0																																										SO:0001651	inframe_deletion	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.25_27delCAG	1.37:g.248738032_248738034delCTG	ENSP00000330904:p.Gln9del		B2RNJ8|Q6IEY5|Q96R31	In_Frame_Del	DEL	ENST00000328782.2	37	CCDS31120.1																																																																																				0.448	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		-	248738034	CTG	-	248738032	7	5	183	1	0	1	0	1	0	0	0	0	11027	912	32	0	933	0	OR2T34	1	248738032	In_Frame_Del	DEL	CTG	TCGA-B0-5098-01A-01D-1421-08	1713588	248738032	512589	70	10767											
NOL10	79954	broad.mit.edu	37	2	10729704	10729704	+	Splice_Site	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:10729704delT	ENST00000381685.5	-	18	1701	c.1596delA	c.(1594-1596)aaa>aa	p.K532fs	NOL10_ENST00000542668.1_Splice_Site_p.K482fs|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000345985.3_Splice_Site_p.K482fs|NOL10_ENST00000538384.1_Splice_Site_p.K506fs	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	532						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		AGTACATTACTTTTTCACGAA	0.299																																																0													97	95	95					2																	10729704		2202	4296	6498	SO:0001630	splice_region_variant	79954			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1596+1A>-	2.37:g.10729704delT			A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Splice_Site	DEL	ENST00000381685.5	37	CCDS1673.2																																																																																				0.299	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894	Frame_Shift_Del	-	10729704	T	-	10729704	8	5	183	1	0	1	0	1	0	0	1	0	10522	1623	56	0	486	0	NOL10	2	10729704	Splice_Site	DEL	T	TCGA-B0-5098-01A-01D-1421-08		10729704	232469669	71	10768											
SMC6	79677	broad.mit.edu	37	2	17902257	17902257	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:17902257T>G	ENST00000448223.2	-	11	1164	c.895A>C	c.(895-897)Att>Ctt	p.I299L	SMC6_ENST00000402989.1_Missense_Mutation_p.I299L|SMC6_ENST00000351948.4_Missense_Mutation_p.I299L|SMC6_ENST00000381272.4_Missense_Mutation_p.I325L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	299					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTCTCCAATTTTGATATTA	0.289																																																0													91	94	93					2																	17902257		2203	4298	6501	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.895A>C	2.37:g.17902257T>G	ENSP00000404092:p.Ile299Leu		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.911014	0.33721	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33	5.73	3.43	0.39272	RecF/RecN/SMC (1);	0.329961	0.31636	N	0.007312	T	0.03871	0.0109	N	0.22421	0.69	0.09310	N	1	B;B;B	0.21821	0.061;0.024;0.027	B;B;B	0.25759	0.028;0.022;0.063	T	0.36672	-0.9738	10	0.27785	T	0.31	.	3.0008	0.06012	0.1845:0.2231:0.0:0.5924	.	325;325;299	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	L	299;299;325;299;325	ENSP00000404092:I299L;ENSP00000323439:I299L;ENSP00000370672:I325L;ENSP00000384539:I299L;ENSP00000408644:I325L	ENSP00000323439:I299L	I	-	1	0	SMC6	17765738	0.095000	0.21747	1.000000	0.80357	0.994000	0.84299	0.375000	0.20518	2.197000	0.70478	0.533000	0.62120	ATT		0.289	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		G	17902257	T	G	17902257	3	3	183	1	0	0	0	0	1	0	0	0	14793	1493	52	5	2452	5	SMC6	2	17902257	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	7172553	17902257	225297116	72	10769											
MSGN1	343930	broad.mit.edu	37	2	17998261	17998261	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:17998261G>A	ENST00000281047.3	+	1	499	c.476G>A	c.(475-477)gGc>gAc	p.G159D		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	159	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCCAGAGAGGCCAGCCTCTC	0.587																																					Melanoma(127;325 1712 14802 40657 49130)											0													40	47	45					2																	17998261		2101	4224	6325	SO:0001583	missense	343930				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"paraxial mesogenin"	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.476G>A	2.37:g.17998261G>A	ENSP00000281047:p.Gly159Asp			Missense_Mutation	SNP	ENST00000281047.3	37	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548210	0.86127	.	.	ENSG00000151379	ENST00000281047	D	0.97831	-4.56	5.97	5.97	0.96955	Helix-loop-helix DNA-binding (5);	0.051167	0.85682	D	0.000000	D	0.97473	0.9173	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93826	0.7123	10	0.02654	T	1	-16.341	20.428	0.99075	0.0:0.0:1.0:0.0	.	159	A6NI15	MSGN1_HUMAN	D	159	ENSP00000281047:G159D	ENSP00000281047:G159D	G	+	2	0	MSGN1	17861742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.837000	0.97791	0.655000	0.94253	GGC		0.587	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		A	17998261	G	A	17998261	3	1	183	1	0	0	0	0	1	0	0	0	9871	1203	42	2	478	2	MSGN1	2	17998261	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	96004	17998261	225201112	73	10770											
APOB	338	broad.mit.edu	37	2	21233356	21233356	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:21233356T>C	ENST00000233242.1	-	26	6511	c.6384A>G	c.(6382-6384)tcA>tcG	p.S2128S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2128	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAATTGAATGAATTCAGAT	0.358																																																0													68	68	68					2																	21233356		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6384A>G	2.37:g.21233356T>C			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21233356	T	C	21233356	2	2	183	1	0	0	0	0	0	0	0	1	785	1451	51	3		3	APOB	2	21233356	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	3235095	21233356	221966017	74	10771											
ATAD2B	54454	broad.mit.edu	37	2	23977158	23977158	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:23977158A>G	ENST00000238789.5	-	27	4569	c.4226T>C	c.(4225-4227)gTg>gCg	p.V1409A	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1409						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTTATCCACCAACAAATC	0.313																																																0													35	32	33					2																	23977158		1818	4068	5886	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4226T>C	2.37:g.23977158A>G	ENSP00000238789:p.Val1409Ala		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.3|25.3	4.628103|4.628103	0.87560|0.87560	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.93906|.	-3.31|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.53938|.	D|.	0.000059|.	T|T	0.74268|0.74268	0.3694|0.3694	M|M	0.73217|0.73217	2.22|2.22	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.61697|.	0.984;0.99|.	D;D|.	0.73380|.	0.956;0.98|.	T|T	0.74578|0.74578	-0.3619|-0.3619	10|5	0.45353|.	T|.	0.12|.	.|.	15.8632|15.8632	0.79040|0.79040	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1409;1404|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	A|R	1409;577|685	ENSP00000238789:V1409A|.	ENSP00000238789:V1409A|.	V|W	-|-	2|1	0|0	ATAD2B|ATAD2B	23830662|23830662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.369000|7.369000	0.79578|0.79578	2.212000|2.212000	0.71576|0.71576	0.533000|0.533000	0.62120|0.62120	GTG|TGG		0.313	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		G	23977158	A	G	23977158	3	3	183	1	0	0	0	0	1	0	0	0	1072	159	6	3	158	3	ATAD2B	2	23977158	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2743802	23977158	219222215	75	10772											
ATAD2B	54454	broad.mit.edu	37	2	24042679	24042682	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:24042679_24042682delTGAG	ENST00000238789.5	-	17	2545_2548	c.2202_2205delCTCA	c.(2200-2205)cactcafs	p.HS734fs	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	734						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGTGATCCTGAGTGACAATTGG	0.314																																																0																																										SO:0001589	frameshift_variant	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2202_2205delCTCA	2.37:g.24042679_24042682delTGAG	ENSP00000238789:p.His734fs		B9ZVQ5|Q6ZNA6|Q8N9E7	Frame_Shift_Del	DEL	ENST00000238789.5	37	CCDS46227.1																																																																																				0.314	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		-	24042682	TGAG	-	24042679	7	5	183	1	0	1	0	1	0	0	0	0	1072	1567	55	0	2219	0	ATAD2B	2	24042679	Frame_Shift_Del	DEL	TGAG	TCGA-B0-5098-01A-01D-1421-08	65521	24042679	219156694	76	10773											
TP53I3	9540	broad.mit.edu	37	2	24305872	24305872	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:24305872G>A	ENST00000238721.4	-	2	1143	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	TP53I3_ENST00000313482.4_Nonsense_Mutation_p.Q97*|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000407482.1_Nonsense_Mutation_p.Q97*|TP53I3_ENST00000335934.4_Nonsense_Mutation_p.Q97*|FAM228B_ENST00000461972.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	97					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGACGTACTGAGCCTGGCCC	0.652																																																0													56	57	57					2																	24305872		2203	4300	6503	SO:0001587	stop_gained	9540			AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.289C>T	2.37:g.24305872G>A	ENSP00000238721:p.Gln97*		D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Nonsense_Mutation	SNP	ENST00000238721.4	37	CCDS1708.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486631	0.84854	.	.	ENSG00000115129	ENST00000335934;ENST00000238721;ENST00000313482;ENST00000407482;ENST00000413037	.	.	.	4.62	3.67	0.42095	.	0.056386	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.264	13.3863	0.60797	0.0:0.3062:0.6938:0.0	.	.	.	.	X	97;97;97;97;92	.	ENSP00000238721:Q97X	Q	-	1	0	TP53I3	24159376	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.128000	0.50492	2.277000	0.76020	0.655000	0.94253	CAG		0.652	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		A	24305872	G	A	24305872	4	1	183	1	0	0	0	0	0	1	0	0	16392	1299	45	2	725	2	TP53I3	2	24305872	Nonsense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	263193	24305872	218893501	77	10774											
KIF3C	3797	broad.mit.edu	37	2	26203973	26203973	+	Missense_Mutation	SNP	C	C	T	rs368483822		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:26203973C>T	ENST00000264712.3	-	1	1393	c.814G>A	c.(814-816)Ggt>Agt	p.G272S	KIF3C_ENST00000405914.1_Missense_Mutation_p.G272S	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	272	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Poly-Gly.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ccgccaccaccgccaccCGAG	0.627																																																0								C	SER/GLY	0,4400		0,0,2200	34	35	34		814	0.8	0	2		34	1,8589		0,1,4294	no	missense	KIF3C	NM_002254.6	56	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	272/794	26203973	1,12989	2200	4295	6495	SO:0001583	missense	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.814G>A	2.37:g.26203973C>T	ENSP00000264712:p.Gly272Ser		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.527195	0.00959	0.0	1.16E-4	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.71698	-0.59;-0.59	2.69	0.781	0.18561	Kinesin, motor domain (3);	0.337533	0.25654	N	0.029192	T	0.42832	0.1220	N	0.08118	0	0.09310	N	1	B;B	0.24963	0.115;0.115	B;B	0.13407	0.009;0.009	T	0.22487	-1.0215	10	0.23891	T	0.37	.	7.8405	0.29395	0.0:0.8466:0.0:0.1534	.	272;272	B7ZM25;O14782	.;KIF3C_HUMAN	S	272;78;272	ENSP00000264712:G272S;ENSP00000385030:G272S	ENSP00000264712:G272S	G	-	1	0	KIF3C	26057477	.	.	0.000000	0.03702	0.005000	0.04900	.	.	0.170000	0.19704	-1.063000	0.02288	GGT		0.627	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			T	26203973	C	T	26203973	3	4	183	1	0	0	0	0	1	0	0	0	8304	652	23	1	1599	1	KIF3C	2	26203973	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1898101	26203973	216995400	78	10775											
HADHA	3030	broad.mit.edu	37	2	26416536	26416536	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:26416536C>T	ENST00000380649.3	-	17	1924	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	599					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCCGCCACATGTTTCGCT	0.547																																																0			GRCh37	CM040221	HADHA	M							179	168	172					2																	26416536		2203	4300	6503	SO:0001583	missense	3030			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1795G>A	2.37:g.26416536C>T	ENSP00000370023:p.Val599Met		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095424	0.94197	.	.	ENSG00000084754	ENST00000380649;ENST00000492433	D;D	0.90788	-2.73;-2.73	5.97	5.97	0.96955	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.96762	0.8943	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.97166	0.9841	10	0.87932	D	0	-18.8182	18.9877	0.92779	0.0:1.0:0.0:0.0	.	599;599	E9KL44;P40939	.;ECHA_HUMAN	M	599;85	ENSP00000370023:V599M;ENSP00000438039:V85M	ENSP00000370023:V599M	V	-	1	0	HADHA	26270040	1.000000	0.71417	0.953000	0.39169	0.990000	0.78478	7.671000	0.83941	2.828000	0.97474	0.655000	0.94253	GTG		0.547	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		T	26416536	C	T	26416536	3	4	183	1	0	0	0	0	1	0	0	0	6945	478	17	2	512	2	HADHA	2	26416536	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	212563	26416536	216782837	79	10776											
MPV17	4358	broad.mit.edu	37	2	27535925	27535925	+	Missense_Mutation	SNP	C	C	A	rs397507438|rs140992482		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:27535925C>A	ENST00000380044.1	-	3	177	c.122G>T	c.(121-123)cGg>cTg	p.R41L	MPV17_ENST00000402722.1_Silent_p.A29A|MPV17_ENST00000402310.1_Missense_Mutation_p.R41L|MPV17_ENST00000405983.1_Missense_Mutation_p.R56L|MPV17_ENST00000405076.1_Missense_Mutation_p.R41L|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.R41L|MPV17_ENST00000233545.2_Missense_Mutation_p.R41L	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	41					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)		p.R56L(1)|p.R41L(1)		lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGACCCCGCCTCTCCAC	0.592																																																2	Substitution - Missense(2)	lung(2)											102	103	103					2																	27535925		2203	4300	6503	SO:0001583	missense	4358				CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"glomerulosclerosis"	137960	"MpV17 transgene, murine homolog, glomerulosclerosis"			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.122G>T	2.37:g.27535925C>A	ENSP00000369383:p.Arg41Leu		D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	ENST00000380044.1	37	CCDS1748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.87|18.87	3.714549|3.714549	0.68730|0.68730	.|.	.|.	ENSG00000115204|ENSG00000115204	ENST00000430991|ENST00000402310;ENST00000233545;ENST00000380044;ENST00000405983;ENST00000405076;ENST00000403262;ENST00000428910	.|D;D;D;D;D;D;D	.|0.92149	.|-2.21;-2.64;-2.64;-2.68;-2.98;-2.18;-2.03	5.37|5.37	3.54|3.54	0.40534|0.40534	.|.	.|0.071484	.|0.53938	.|D	.|0.000048	D|D	0.92756|0.92756	0.7697|0.7697	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	.|P;D	.|0.53312	.|0.793;0.959	.|B;P	.|0.48952	.|0.43;0.596	D|D	0.92289|0.92289	0.5840|0.5840	5|10	.|0.59425	.|D	.|0.04	.|.	8.5133|8.5133	0.33231|0.33231	0.0:0.821:0.0:0.179|0.0:0.821:0.0:0.179	.|.	.|41;41	.|P39210;B5MC53	.|MPV17_HUMAN;.	W|L	18|41;41;41;56;41;41;15	.|ENSP00000383955:R41L;ENSP00000233545:R41L;ENSP00000369383:R41L;ENSP00000384586:R56L;ENSP00000385175:R41L;ENSP00000385671:R41L;ENSP00000405235:R15L	.|ENSP00000233545:R41L	G|R	-|-	1|2	0|0	MPV17|MPV17	27389429|27389429	0.974000|0.974000	0.33945|0.33945	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.978000|1.978000	0.40598|0.40598	1.507000|1.507000	0.48752|0.48752	0.609000|0.609000	0.83330|0.83330	GGG|CGG		0.592	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		A	27535925	C	A	27535925	3	1	183	1	0	0	0	0	1	0	0	0	9747	652	23	4	432	4	MPV17	2	27535925	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1119389	27535925	215663448	80	10777											
PLB1	151056	broad.mit.edu	37	2	28841245	28841245	+	Silent	SNP	C	C	T	rs201645442	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:28841245C>T	ENST00000327757.5	+	46	3338	c.3294C>T	c.(3292-3294)gcC>gcT	p.A1098A	PLB1_ENST00000422425.2_Silent_p.A1087A|PLB1_ENST00000541605.1_Silent_p.A63A	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1098	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AAGTGGTGGCCGCCCTGGGTG	0.582																																																0													97	91	93					2																	28841245		2203	4300	6503	SO:0001819	synonymous_variant	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3294C>T	2.37:g.28841245C>T			A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	9.754	1.168386	0.21621	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.48	-11.0	0.00169	.	.	.	.	.	T	0.34308	0.0893	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	T	0.43114	-0.9411	4	.	.	.	-21.9814	3.6938	0.08357	0.2296:0.1173:0.0765:0.5766	.	.	.	.	L	1086	.	.	P	+	2	0	PLB1	28694749	0.000000	0.05858	0.268000	0.24571	0.890000	0.51754	-3.669000	0.00398	-2.484000	0.00521	-0.350000	0.07774	CCG		0.582	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			T	28841245	C	T	28841245	2	4	183	1	0	0	0	0	0	0	0	1	12026	639	23	1		1	PLB1	2	28841245	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1305320	28841245	214358128	81	10778											
C2orf71	388939	broad.mit.edu	37	2	29294843	29294843	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:29294843C>T	ENST00000331664.5	-	1	2284	c.2285G>A	c.(2284-2286)tGc>tAc	p.C762Y		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	762					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGCATGATGCAATTCCTGAG	0.527																																																0													55	54	54					2																	29294843		1919	4138	6057	SO:0001583	missense	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2285G>A	2.37:g.29294843C>T	ENSP00000332809:p.Cys762Tyr			Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.519896	0.00967	.	.	ENSG00000179270	ENST00000331664	T	0.16073	2.37	5.83	4.88	0.63580	.	0.129386	0.52532	D	0.000076	T	0.09818	0.0241	N	0.14661	0.345	0.29416	N	0.860922	P	0.42203	0.773	B	0.39904	0.313	T	0.10245	-1.0638	10	0.16896	T	0.51	-14.318	11.5254	0.50576	0.3863:0.6137:0.0:0.0	.	762	A6NGG8	CB071_HUMAN	Y	762	ENSP00000332809:C762Y	ENSP00000332809:C762Y	C	-	2	0	C2orf71	29148347	0.996000	0.38824	0.996000	0.52242	0.032000	0.12392	2.748000	0.47483	2.753000	0.94483	0.650000	0.86243	TGC		0.527	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		T	29294843	C	T	29294843	3	4	183	1	0	0	0	0	1	0	0	0	2193	710	25	2	1589	2	C2orf71	2	29294843	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	453598	29294843	213904530	82	10779											
STRN	6801	broad.mit.edu	37	2	37193392	37193392	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:37193392A>G	ENST00000263918.4	-	1	223	c.215T>C	c.(214-216)gTg>gCg	p.V72A	STRN_ENST00000379213.2_Missense_Mutation_p.V60A	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	72					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CGCCCGCTCCACCTCCCACTG	0.716																																																0													11	12	12					2																	37193392		2163	4259	6422	SO:0001583	missense	6801			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.215T>C	2.37:g.37193392A>G	ENSP00000263918:p.Val72Ala		Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276197	0.40294	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.66280	-0.2;-0.2	3.73	3.73	0.42828	Striatin, N-terminal (1);	0.074652	0.52532	D	0.000070	T	0.41096	0.1144	N	0.20685	0.6	0.42587	D	0.993234	B;B	0.17667	0.023;0.003	B;B	0.22880	0.041;0.042	T	0.20405	-1.0276	10	0.18276	T	0.48	-8.1118	6.2735	0.20966	0.8332:0.0:0.1668:0.0	.	60;72	O43815-2;O43815	.;STRN_HUMAN	A	72;47;60	ENSP00000263918:V72A;ENSP00000368513:V60A	ENSP00000263918:V72A	V	-	2	0	STRN	37046896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.962000	0.63687	1.546000	0.49388	0.392000	0.25879	GTG		0.716	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			G	37193392	A	G	37193392	3	3	183	1	0	0	0	0	1	0	0	0	15334	159	6	3	2199	3	STRN	2	37193392	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	7898549	37193392	206005981	83	10780											
HEATR5B	54497	broad.mit.edu	37	2	37291914	37291914	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:37291914C>G	ENST00000233099.5	-	10	1648	c.1553G>C	c.(1552-1554)tGt>tCt	p.C518S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.C518S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	518						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCCCAAAGGACACTGATGTAC	0.488																																																0													128	114	119					2																	37291914		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1553G>C	2.37:g.37291914C>G	ENSP00000233099:p.Cys518Ser		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945947	0.34377	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07327	3.2;3.2	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	L	0.35542	1.07	0.80722	D	1	B	0.31548	0.328	B	0.30105	0.111	T	0.24728	-1.0152	10	0.08837	T	0.75	-15.5863	19.234	0.93850	0.0:1.0:0.0:0.0	.	518	Q9P2D3	HTR5B_HUMAN	S	518	ENSP00000233099:C518S;ENSP00000346531:C518S	ENSP00000233099:C518S	C	-	2	0	HEATR5B	37145418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.975000	0.70475	2.554000	0.86153	0.655000	0.94253	TGT		0.488	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		G	37291914	C	G	37291914	3	3	183	1	0	0	0	0	1	0	0	0	7034	478	17	4	4770	4	HEATR5B	2	37291914	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	98522	37291914	205907459	84	10781											
PRKD3	23683	broad.mit.edu	37	2	37501708	37501708	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:37501708C>T	ENST00000379066.1	-	11	2269	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	PRKD3_ENST00000234179.2_Missense_Mutation_p.D503N			O94806	KPCD3_HUMAN	protein kinase D3	503	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGAGAGCTGTCCCCATTGTTC	0.448																																					Melanoma(80;621 1355 8613 11814 51767)											0													138	122	128					2																	37501708		2203	4300	6503	SO:0001583	missense	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1507G>A	2.37:g.37501708C>T	ENSP00000368356:p.Asp503Asn		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282470	0.23392	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443977	T;T;T	0.64803	-0.12;-0.12;1.96	5.57	3.74	0.42951	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.444786	0.24975	N	0.034107	T	0.39809	0.1092	N	0.19112	0.55	0.26389	N	0.976615	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.17018	-1.0383	10	0.11182	T	0.66	-6.9895	7.3214	0.26529	0.0:0.702:0.0:0.298	.	503;503	O94806-2;O94806	.;KPCD3_HUMAN	N	503;503;14	ENSP00000368356:D503N;ENSP00000234179:D503N;ENSP00000398743:D14N	ENSP00000234179:D503N	D	-	1	0	PRKD3	37355212	0.557000	0.26546	1.000000	0.80357	0.948000	0.59901	1.053000	0.30442	1.314000	0.45095	0.591000	0.81541	GAC		0.448	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		T	37501708	C	T	37501708	3	4	183	1	0	0	0	0	1	0	0	0	12525	855	30	2	1201	2	PRKD3	2	37501708	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	209794	37501708	205697665	85	10782											
THADA	63892	broad.mit.edu	37	2	43801837	43801837	+	Missense_Mutation	SNP	G	G	A	rs574838357		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:43801837G>A	ENST00000405006.4	-	11	1718	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	THADA_ENST00000402360.2_Missense_Mutation_p.T456M|THADA_ENST00000330266.7_Missense_Mutation_p.T166M|THADA_ENST00000405975.2_Missense_Mutation_p.T456M|THADA_ENST00000403856.1_Missense_Mutation_p.T456M|THADA_ENST00000404790.1_Missense_Mutation_p.T456M|THADA_ENST00000415080.2_Missense_Mutation_p.T166M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	456								p.T456M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCAAGGCACGTGTACTTTCC	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		21758	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	lung(1)											132	127	129					2																	43801837		1909	4108	6017	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1367C>T	2.37:g.43801837G>A	ENSP00000385995:p.Thr456Met		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407655	0.11754	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.65549	1.45;1.45;1.45;1.45;-0.16;-0.16;1.45	5.84	-2.61	0.06171	Armadillo-type fold (1);	0.837250	0.11048	N	0.605413	T	0.48624	0.1510	L	0.40543	1.245	0.09310	N	1	B;B;P;P;B	0.37594	0.174;0.036;0.601;0.599;0.007	B;B;B;B;B	0.32289	0.03;0.004;0.143;0.068;0.001	T	0.21143	-1.0254	10	0.41790	T	0.15	-9.3942	14.2351	0.65922	0.2598:0.0:0.7402:0.0	.	456;456;456;166;456	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	M	166;456;456;166;456;456;456;456	ENSP00000331105:T166M;ENSP00000386088:T456M;ENSP00000416048:T166M;ENSP00000385995:T456M;ENSP00000385441:T456M;ENSP00000384266:T456M;ENSP00000385469:T456M	ENSP00000331105:T166M	T	-	2	0	THADA	43655341	0.005000	0.15991	0.003000	0.11579	0.473000	0.32948	0.194000	0.17135	-0.958000	0.03622	-1.149000	0.01842	ACG		0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		A	43801837	G	A	43801837	3	1	183	1	0	0	0	0	1	0	0	0	15845	1145	40	1	4606	1	THADA	2	43801837	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	6300129	43801837	199397536	86	10783											
PLEKHH2	130271	broad.mit.edu	37	2	43973054	43973054	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:43973054C>T	ENST00000282406.4	+	24	3715	c.3605C>T	c.(3604-3606)cCt>cTt	p.P1202L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1202	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAACAGCAGCCTGGAAAATGT	0.368																																																0													73	67	69					2																	43973054		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3605C>T	2.37:g.43973054C>T	ENSP00000282406:p.Pro1202Leu		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840367	0.51057	.	.	ENSG00000152527	ENST00000282406	T	0.48836	0.8	5.74	5.74	0.90152	Band 4.1 domain (1);FERM domain (1);	0.212494	0.45126	D	0.000391	T	0.47432	0.1445	L	0.46157	1.445	0.58432	D	0.999994	B	0.13145	0.007	B	0.19391	0.025	T	0.33497	-0.9866	10	0.49607	T	0.09	-22.2123	19.9187	0.97077	0.0:1.0:0.0:0.0	.	1202	Q8IVE3	PKHH2_HUMAN	L	1202	ENSP00000282406:P1202L	ENSP00000282406:P1202L	P	+	2	0	PLEKHH2	43826558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.743000	0.55104	2.716000	0.92895	0.557000	0.71058	CCT		0.368	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		T	43973054	C	T	43973054	3	4	183	1	0	0	0	0	1	0	0	0	12079	681	24	2	3695	2	PLEKHH2	2	43973054	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	171217	43973054	199226319	87	10784											
LRPPRC	10128	broad.mit.edu	37	2	44145522	44145522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:44145522C>T	ENST00000260665.7	-	28	2969	c.2912G>A	c.(2911-2913)tGg>tAg	p.W971*		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	971					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCTCTTTGCCAGTCACCGTT	0.299																																																0													56	58	58					2																	44145522		2202	4300	6502	SO:0001587	stop_gained	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2912G>A	2.37:g.44145522C>T	ENSP00000260665:p.Trp971*		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Nonsense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	40	8.188346	0.98696	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	.	.	.	6.17	5.29	0.74685	.	0.199651	0.46758	D	0.000279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.8481	17.652	0.88167	0.0:0.877:0.123:0.0	.	.	.	.	X	871;971	.	ENSP00000260665:W971X	W	-	2	0	LRPPRC	43999026	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	6.756000	0.74919	1.608000	0.50180	-0.176000	0.13171	TGG		0.299	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		T	44145522	C	T	44145522	4	4	183	1	0	0	0	0	0	1	0	0	8967	595	21	2	1316	2	LRPPRC	2	44145522	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	172468	44145522	199053851	88	10785											
LRPPRC	10128	broad.mit.edu	37	2	44175571	44175571	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:44175571A>G	ENST00000260665.7	-	17	1879	c.1822T>C	c.(1822-1824)Ttc>Ctc	p.F608L		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	608					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCTGATGGAAGTATTGTCTC	0.388																																																0													127	112	117					2																	44175571		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1822T>C	2.37:g.44175571A>G	ENSP00000260665:p.Phe608Leu		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739237	0.49045	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.52754	0.65	5.72	5.72	0.89469	.	0.046282	0.85682	D	0.000000	T	0.68513	0.3009	M	0.80183	2.485	0.80722	D	1	P;D	0.76494	0.923;0.999	P;D	0.80764	0.689;0.994	T	0.66160	-0.5993	10	0.17832	T	0.49	-6.2013	16.2988	0.82793	1.0:0.0:0.0:0.0	.	508;608	F5H4J6;P42704	.;LPPRC_HUMAN	L	508;608	ENSP00000260665:F608L	ENSP00000260665:F608L	F	-	1	0	LRPPRC	44029075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.495000	0.90481	2.311000	0.77944	0.533000	0.62120	TTC		0.388	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		G	44175571	A	G	44175571	3	3	183	1	0	0	0	0	1	0	0	0	8967	72	3	3	2450	3	LRPPRC	2	44175571	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	30049	44175571	199023802	89	10786											
FBXO11	80204	broad.mit.edu	37	2	48050443	48050443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:48050443delT	ENST00000403359.3	-	12	1527	c.1455delA	c.(1453-1455)aaafs	p.K485fs	FBXO11_ENST00000402508.1_Frame_Shift_Del_p.K401fs|FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000316377.4_Frame_Shift_Del_p.K401fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	485					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGCATAGGCTTTTACTTCAA	0.368			"Mis, F, D"		DLBCL																																		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											94	89	90					2																	48050443		2203	4300	6503	SO:0001589	frameshift_variant	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1455delA	2.37:g.48050443delT	ENSP00000384823:p.Lys485fs		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Del	DEL	ENST00000403359.3	37	CCDS54357.1																																																																																				0.368	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		-	48050443	T	-	48050443	7	5	183	1	0	1	0	1	0	0	0	0	5729	1606	56	0	1466	0	FBXO11	2	48050443	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	3874872	48050443	195148930	90	10787											
CCDC104	112942	broad.mit.edu	37	2	55749245	55749245	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:55749245T>C	ENST00000349456.4	+	2	271	c.123T>C	c.(121-123)gaT>gaC	p.D41D	CCDC104_ENST00000406691.3_Silent_p.D41D|CCDC104_ENST00000403007.3_Silent_p.D41D|CCDC104_ENST00000407816.3_Silent_p.D41D|CCDC104_ENST00000339012.3_Silent_p.D66D			Q96G28	CFA36_HUMAN		41										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAGTTTTTGATGATGAAGAAG	0.254																																																0													25	26	26					2																	55749245		2148	4240	6388	SO:0001819	synonymous_variant	112942																														ENST00000349456.4:c.123T>C	2.37:g.55749245T>C			Q53SF0|Q53ST9|Q6UY34	Silent	SNP	ENST00000349456.4	37	CCDS1854.2																																																																																				0.254	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			C	55749245	T	C	55749245	2	2	183	1	0	0	0	0	0	0	0	1	2741	1461	51	3		3	CCDC104	2	55749245	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	7698802	55749245	187450128	91	10788											
SERTAD2	9792	broad.mit.edu	37	2	64863637	64863637	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:64863637A>G	ENST00000313349.3	-	2	666	c.369T>C	c.(367-369)acT>acC	p.T123T	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	123					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CCAGGGGCGTAGTGCTTCCGA	0.701																																																0													38	41	40					2																	64863637		2203	4300	6503	SO:0001819	synonymous_variant	9792			D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"transcriptional regulator interacting with the PHS-bromodomain 2"					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.369T>C	2.37:g.64863637A>G			Q53TS2	Silent	SNP	ENST00000313349.3	37	CCDS33210.1																																																																																				0.701	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		G	64863637	A	G	64863637	2	3	183	1	0	0	0	0	0	0	0	1	14127	407	15	3		3	SERTAD2	2	64863637	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	9114392	64863637	178335736	92	10789											
RAB1A	5861	broad.mit.edu	37	2	65316203	65316203	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:65316203T>C	ENST00000409784.3	-	5	480	c.290A>G	c.(289-291)gAg>gGg	p.E97G	RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000356214.7_Splice_Site_p.E65G|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000409751.1_Splice_Site_p.E65G|RAB1A_ENST00000409892.1_Splice_Site_p.E33G	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	97					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cargo loading into COPII-coated vesicle (GO:0090110)|cell migration (GO:0016477)|defense response to bacterium (GO:0042742)|endocytosis (GO:0006897)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|growth hormone secretion (GO:0030252)|GTP catabolic process (GO:0006184)|interleukin-8 secretion (GO:0072606)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|positive regulation of glycoprotein metabolic process (GO:1903020)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle transport along microtubule (GO:0047496)|vesicle-mediated transport (GO:0016192)|virion assembly (GO:0019068)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|melanosome (GO:0042470)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						ATTGAAGGACTCCTAAAAAGA	0.353																																																0													47	41	43					2																	65316203		1840	4092	5932	SO:0001630	splice_region_variant	5861			M28209	CCDS46305.1, CCDS46306.1	2p14	2008-02-05		2002-03-17	ENSG00000138069	ENSG00000138069		"RAB, member RAS oncogene"	9758	protein-coding gene	gene with protein product	"Rab GTPase YPT1 homolog (yeast)"	179508		RAB1		2501306	Standard	NM_004161		Approved	YPT1	uc002sdm.3	P62820	OTTHUMG00000152725	ENST00000409784.3:c.289-1A>G	2.37:g.65316203T>C			P11476|Q6FIE7|Q96N61|Q9Y3T2	Splice_Site	SNP	ENST00000409784.3	37	CCDS46306.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.941289	0.92526	.	.	ENSG00000138069	ENST00000409784;ENST00000409892;ENST00000409751;ENST00000356214	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.5	5.5	0.81552	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.62016	1.91	0.80722	D	1	B;P;B	0.51933	0.015;0.949;0.047	B;P;B	0.58331	0.114;0.837;0.057	D	0.87893	0.2685	10	0.72032	D	0.01	.	15.5997	0.76613	0.0:0.0:0.0:1.0	.	65;33;97	B7Z8M7;P62820-2;P62820	.;.;RAB1A_HUMAN	G	97;33;65;65	ENSP00000387286:E97G;ENSP00000386451:E33G;ENSP00000386672:E65G;ENSP00000348546:E65G	ENSP00000348546:E65G	E	-	2	0	RAB1A	65169707	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.036000	0.88901	2.072000	0.62099	0.454000	0.30748	GAG		0.353	RAB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327572.1	NM_004161	Missense_Mutation	C	65316203	T	C	65316203	5	2	183	1	0	0	0	0	0	0	1	0	12911	1565	54	3	335	3	RAB1A	2	65316203	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	452566	65316203	177883170	93	10790											
ADD2	119	broad.mit.edu	37	2	70910816	70910816	+	Silent	SNP	G	G	A	rs369508265		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:70910816G>A	ENST00000264436.4	-	10	1476	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	ADD2_ENST00000413157.2_Silent_p.S344S|ADD2_ENST00000407644.2_Silent_p.S344S|ADD2_ENST00000430656.1_Silent_p.S360S|ADD2_ENST00000355733.3_Silent_p.S344S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	344					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCCACTGCACGGAGCCCACCT	0.622																																																0								G	,,,,	0,4406		0,0,2203	40	39	39		1032,1080,1032,1032,1032	-9.7	0.7	2		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADD2	NM_001185054.1,NM_001185055.1,NM_001617.3,NM_017482.3,NM_017488.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	344/727,360/576,344/727,344/560,344/644	70910816	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1032C>T	2.37:g.70910816G>A			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	CCDS1906.1																																																																																				0.622	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		A	70910816	G	A	70910816	2	1	183	1	0	0	0	0	0	0	0	1	305	1103	39	1		1	ADD2	2	70910816	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	5594613	70910816	172288557	94	10791											
ATP6V1B1	525	broad.mit.edu	37	2	71189971	71189971	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:71189971G>A	ENST00000234396.4	+	9	923	c.850G>A	c.(850-852)Gag>Aag	p.E284K	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E284K|AC007040.11_ENST00000606025.1_Intron|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	284					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTACCAGTGTGAGAAGCATGT	0.582																																																0													142	124	130					2																	71189971		2203	4300	6503	SO:0001583	missense	525			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"ATPases / V-type"	853	protein-coding gene	gene with protein product	"Renal tubular acidosis with deafness"	192132	"vacuolar proton pump 3"	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.850G>A	2.37:g.71189971G>A	ENSP00000234396:p.Glu284Lys		Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990521	0.74589	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	T;T	0.80994	-1.44;-1.44	5.41	4.51	0.55191	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.073219	0.50627	D	0.000109	T	0.77350	0.4117	L	0.49699	1.58	0.58432	D	0.999997	B;B;B	0.23990	0.002;0.044;0.095	B;B;B	0.29598	0.073;0.104;0.071	T	0.74740	-0.3563	10	0.52906	T	0.07	-11.1079	13.7812	0.63084	0.0:0.155:0.845:0.0	.	259;284;284	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	K	284;259;284	ENSP00000234396:E284K;ENSP00000388353:E284K	ENSP00000234396:E284K	E	+	1	0	ATP6V1B1	71043479	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.860000	0.99555	1.249000	0.43950	0.650000	0.86243	GAG		0.582	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		A	71189971	G	A	71189971	3	1	183	1	0	0	0	0	1	0	0	0	1178	1291	45	2	884	2	ATP6V1B1	2	71189971	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	279155	71189971	172009402	95	10792											
ZNF638	27332	broad.mit.edu	37	2	71654527	71654527	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:71654527T>C	ENST00000409544.1	+	24	6158	c.5528T>C	c.(5527-5529)aTt>aCt	p.I1843T	ZNF638_ENST00000264447.4_Missense_Mutation_p.I1843T|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.I783T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1843					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAAACCATGATTGAAAGACAC	0.343																																																0													43	44	44					2																	71654527		2202	4298	6500	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5528T>C	2.37:g.71654527T>C	ENSP00000386433:p.Ile1843Thr		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	5.652	0.304951	0.10678	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.30714	1.52;1.52;1.94	5.17	2.82	0.32997	.	0.421149	0.21562	N	0.072558	T	0.14227	0.0344	N	0.17082	0.46	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.08046	-1.0741	10	0.12103	T	0.63	-3.6054	5.1264	0.14886	0.0:0.2448:0.0:0.7552	.	1843;1843	Q14966-3;Q14966	.;ZN638_HUMAN	T	1843;1843;783	ENSP00000264447:I1843T;ENSP00000386433:I1843T;ENSP00000386813:I783T	ENSP00000264447:I1843T	I	+	2	0	ZNF638	71508035	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.556000	0.23438	1.004000	0.39156	0.528000	0.53228	ATT		0.343	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		C	71654527	T	C	71654527	3	2	183	1	0	0	0	0	1	0	0	0	18060	1493	52	3	5618	3	ZNF638	2	71654527	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	464556	71654527	171544846	96	10793											
EXOC6B	23233	broad.mit.edu	37	2	72725651	72725651	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:72725651delA	ENST00000272427.6	-	13	1399	c.1269delT	c.(1267-1269)tttfs	p.F423fs	EXOC6B_ENST00000410104.1_Frame_Shift_Del_p.F423fs	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	423					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						ACAGCATGTCAAAAAGCTGAT	0.338																																																0													87	77	80					2																	72725651		1819	4092	5911	SO:0001589	frameshift_variant	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1269delT	2.37:g.72725651delA	ENSP00000272427:p.Phe423fs		B8ZZY3	Frame_Shift_Del	DEL	ENST00000272427.6	37	CCDS46333.1																																																																																				0.338	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		-	72725651	A	-	72725651	7	5	183	1	0	1	0	1	0	0	0	0	5311	127	5	0	1206	0	EXOC6B	2	72725651	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	1071124	72725651	170473722	97	10794											
CTNNA2	1496	broad.mit.edu	37	2	80097023	80097023	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:80097023A>G	ENST00000402739.4	+	4	552	c.547A>G	c.(547-549)Atg>Gtg	p.M183V	CTNNA2_ENST00000466387.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M183V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M217V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	183					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGGAAAGAGATGGTGAAACT	0.413																																																0													115	108	110					2																	80097023		1849	4107	5956	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.547A>G	2.37:g.80097023A>G	ENSP00000384638:p.Met183Val		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	A	6.727	0.502812	0.12822	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.91	5.91	0.95273	Vinculin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	N	0.11560	0.145	0.58432	D	0.99999	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.07597	-1.0764	10	0.21540	T	0.41	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	183;183;183	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	V	183;183;217;183;183;183	ENSP00000418191:M183V;ENSP00000419295:M183V;ENSP00000355398:M217V;ENSP00000384638:M183V;ENSP00000444675:M183V;ENSP00000441705:M183V	ENSP00000355398:M217V	M	+	1	0	CTNNA2	79950531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.949000	0.93012	2.266000	0.75297	0.533000	0.62120	ATG		0.413	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		G	80097023	A	G	80097023	3	3	183	1	0	0	0	0	1	0	0	0	4015	333	12	3	561	3	CTNNA2	2	80097023	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	7371372	80097023	163102350	98	10795											
SNRNP200	23020	broad.mit.edu	37	2	96943382	96943382	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:96943382A>G	ENST00000323853.5	-	41	5903	c.5826T>C	c.(5824-5826)gcT>gcC	p.A1942A	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1942	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCAGTTCCATAGCTGCCAGAG	0.547																																																0													83	80	81					2																	96943382		2203	4300	6503	SO:0001819	synonymous_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5826T>C	2.37:g.96943382A>G			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	CCDS2020.1																																																																																				0.547	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		G	96943382	A	G	96943382	2	3	183	1	0	0	0	0	0	0	0	1	14858	407	15	3		3	SNRNP200	2	96943382	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	16846359	96943382	146255991	99	10796											
MAP4K4	9448	broad.mit.edu	37	2	102501664	102501664	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:102501664T>A	ENST00000347699.4	+	26	3101	c.3101T>A	c.(3100-3102)aTc>aAc	p.I1034N	MAP4K4_ENST00000324219.4_Missense_Mutation_p.I1115N|MAP4K4_ENST00000425019.1_Missense_Mutation_p.I1067N|MAP4K4_ENST00000456652.1_Missense_Mutation_p.I833N|MAP4K4_ENST00000350878.4_Missense_Mutation_p.I1074N|MAP4K4_ENST00000302217.5_Missense_Mutation_p.I837N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.I953N|MAP4K4_ENST00000413150.2_Missense_Mutation_p.I949N	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1034	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TATGAAAGAATCAAATTTCTG	0.368																																																0													62	58	60					2																	102501664		1822	4079	5901	SO:0001583	missense	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3101T>A	2.37:g.102501664T>A	ENSP00000314363:p.Ile1034Asn		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.722978|4.722978	0.89298|0.89298	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.04502|.	3.61;3.61;3.61;3.61;3.61;3.61;3.61;3.61;3.61|.	6.02|6.02	6.02|6.02	0.97574|0.97574	Citron-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78916|0.78916	0.4359|0.4359	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.996;0.991;1.0;1.0;0.988;0.999;1.0;0.988;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.994;0.991;0.996;0.997;0.984;0.997;0.997;0.984;0.994;0.999|.	T|T	0.80641|0.80641	-0.1292|-0.1292	10|5	0.87932|.	D|.	0|.	.|.	16.5494|16.5494	0.84464|0.84464	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1074;1030;833;837;952;1034;1067;953;1006;1115|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	N|K	1067;1115;953;837;949;833;1034;965;1074|850	ENSP00000392830:I1067N;ENSP00000313644:I1115N;ENSP00000281111:I953N;ENSP00000303600:I837N;ENSP00000389752:I949N;ENSP00000387370:I833N;ENSP00000314363:I1034N;ENSP00000409720:I965N;ENSP00000343658:I1074N|.	ENSP00000303600:I837N|.	I|N	+|+	2|3	0|2	MAP4K4|MAP4K4	101868096|101868096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.299000|2.299000	0.77371|0.77371	0.528000|0.528000	0.53228|0.53228	ATC|AAT		0.368	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		A	102501664	T	A	102501664	3	1	183	1	0	0	0	0	1	0	0	0	9264	1435	50	5	3454	5	MAP4K4	2	102501664	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	5558282	102501664	140697709	100	10797											
RANBP2	5903	broad.mit.edu	37	2	109371408	109371408	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:109371408G>A	ENST00000283195.6	+	16	2376	c.2250G>A	c.(2248-2250)atG>atA	p.M750I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	750					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCAGTCATGCAGGAACTCG	0.373																																																0													93	98	96					2																	109371408		2199	4282	6481	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2250G>A	2.37:g.109371408G>A	ENSP00000283195:p.Met750Ile		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	g	14.17	2.456817	0.43634	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.21543	2.0	5.77	5.77	0.91146	.	.	.	.	.	T	0.15739	0.0379	N	0.17082	0.46	0.27078	N	0.963166	B	0.18863	0.031	B	0.10450	0.005	T	0.11690	-1.0577	9	0.27082	T	0.32	-10.0738	16.4687	0.84094	0.0:0.1397:0.8603:0.0	.	750	P49792	RBP2_HUMAN	I	750	ENSP00000283195:M750I	ENSP00000283195:M750I	M	+	3	0	RANBP2	108737840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.702000	0.37836	2.716000	0.92895	0.542000	0.68232	ATG		0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		A	109371408	G	A	109371408	3	1	183	1	0	0	0	0	1	0	0	0	13034	1319	46	2	2312	2	RANBP2	2	109371408	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	6869744	109371408	133827965	101	10798											
MERTK	10461	broad.mit.edu	37	2	112751965	112751965	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:112751965A>G	ENST00000295408.4	+	9	1691	c.1434A>G	c.(1432-1434)atA>atG	p.I478M	MERTK_ENST00000421804.2_Missense_Mutation_p.I478M|MERTK_ENST00000409780.1_Missense_Mutation_p.I302M			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	478	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAGTGAAAATATTTATCCCTG	0.527																																																0													142	137	139					2																	112751965		2203	4300	6503	SO:0001583	missense	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1434A>G	2.37:g.112751965A>G	ENSP00000295408:p.Ile478Met		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381619	0.24944	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	T;T;T	0.55413	0.52;0.52;0.52	5.1	-10.2	0.00374	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.899028	0.09012	N	0.861384	T	0.41190	0.1148	L	0.51914	1.62	0.09310	N	1	B	0.16396	0.017	B	0.15870	0.014	T	0.34004	-0.9846	10	0.48119	T	0.1	-4.005	14.2739	0.66167	0.1448:0.7116:0.1435:0.0	.	478	Q12866	MERTK_HUMAN	M	478;478;73;302	ENSP00000295408:I478M;ENSP00000389152:I478M;ENSP00000387277:I302M	ENSP00000295408:I478M	I	+	3	3	MERTK	112468436	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.760000	0.04756	-1.636000	0.01533	-0.461000	0.05368	ATA		0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			G	112751965	A	G	112751965	3	3	183	1	0	0	0	0	1	0	0	0	9481	439	16	3	1468	3	MERTK	2	112751965	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3380557	112751965	130447408	102	10799											
NEB	4703	broad.mit.edu	37	2	152534241	152534241	+	Silent	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:152534241G>C	ENST00000172853.10	-	34	3759	c.3612C>G	c.(3610-3612)ggC>ggG	p.G1204G	NEB_ENST00000397345.3_Silent_p.G1204G|NEB_ENST00000409198.1_Silent_p.G1204G|NEB_ENST00000427231.2_Silent_p.G1204G|NEB_ENST00000604864.1_Silent_p.G1204G|NEB_ENST00000603639.1_Silent_p.G1204G			P20929	NEBU_HUMAN	nebulin	1204					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGGAATCCAGCCAATGCCTT	0.453																																																0													229	219	222					2																	152534241		1908	4122	6030	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3612C>G	2.37:g.152534241G>C			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152534241	G	C	152534241	2	2	183	1	0	0	0	0	0	0	0	1	10304	958	34	4		4	NEB	2	152534241	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	39782276	152534241	90665132	103	10800											
ACVR1	90	broad.mit.edu	37	2	158630598	158630598	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:158630598A>G	ENST00000263640.3	-	6	1073		c.e6+1		ACVR1_ENST00000410057.2_Splice_Site|ACVR1_ENST00000434821.1_Splice_Site|ACVR1_ENST00000409283.2_Splice_Site	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I						activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AAAAAGAATTACCGACACACT	0.373																																																0													85	82	83					2																	158630598		2203	4300	6503	SO:0001630	splice_region_variant	90				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.643+1T>C	2.37:g.158630598A>G				Splice_Site	SNP	ENST00000263640.3	37	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475245	0.63737	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2433	0.82426	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACVR1	158338844	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	9.255000	0.95524	2.296000	0.77279	0.533000	0.62120	.		0.373	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105	Intron	G	158630598	A	G	158630598	5	3	183	1	0	0	0	0	0	0	1	0	220	405	14	3	908	3	ACVR1	2	158630598	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	6096357	158630598	84568775	104	10801											
BAZ2B	29994	broad.mit.edu	37	2	160295144	160295144	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:160295144C>A	ENST00000392783.2	-	8	1458	c.963G>T	c.(961-963)caG>caT	p.Q321H	BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q319H|BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q321H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q319H	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCTTTTTTCCTGGGCTTTTT	0.423																																																0													173	173	173					2																	160295144		1835	4105	5940	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.963G>T	2.37:g.160295144C>A	ENSP00000376534:p.Gln321His		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216885	0.39201	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	5.05	3.22	0.36961	.	0.000000	0.35151	U	0.003413	T	0.22205	0.0535	L	0.60455	1.87	0.42249	D	0.991963	D;D;P;P;P	0.71674	0.995;0.998;0.936;0.936;0.894	D;D;P;P;B	0.77004	0.989;0.984;0.466;0.471;0.28	T	0.00909	-1.1518	10	0.87932	D	0	-0.9774	10.8492	0.46761	0.0:0.7767:0.0:0.2233	.	319;321;319;319;321	Q6MZK7;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	H	319;321;321;319;258	ENSP00000376533:Q319H;ENSP00000376534:Q321H;ENSP00000348087:Q321H;ENSP00000339670:Q319H	ENSP00000339670:Q319H	Q	-	3	2	BAZ2B	160003390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.533000	0.45667	1.248000	0.43934	-0.142000	0.14014	CAG		0.423	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			A	160295144	C	A	160295144	3	1	183	1	0	0	0	0	1	0	0	0	1332	680	24	4	5663	4	BAZ2B	2	160295144	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1664546	160295144	82904229	105	10802											
SLC38A11	151258	broad.mit.edu	37	2	165768159	165768159	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:165768159A>G	ENST00000409149.3	-	9	1073	c.782T>C	c.(781-783)tTt>tCt	p.F261S	SLC38A11_ENST00000409662.1_Missense_Mutation_p.F261S|SLC38A11_ENST00000409058.1_Missense_Mutation_p.F292S|SLC38A11_ENST00000303735.4_Missense_Mutation_p.F239S|SLC38A11_ENST00000493887.1_5'Flank	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	261					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TCTTGTCACAAAGCATTCCAT	0.393																																																0													98	94	96					2																	165768159		2203	4300	6503	SO:0001583	missense	151258				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.782T>C	2.37:g.165768159A>G	ENSP00000386272:p.Phe261Ser		B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462060	0.84425	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662;ENST00000424914	T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.02196	-1.1197	10	0.87932	D	0	-21.8324	16.2035	0.82105	1.0:0.0:0.0:0.0	.	261;239	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	S	239;261;292;261;82	ENSP00000306178:F239S;ENSP00000386272:F261S;ENSP00000387345:F292S;ENSP00000386774:F261S;ENSP00000401448:F82S	ENSP00000306178:F239S	F	-	2	0	SLC38A11	165476405	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	8.867000	0.92314	2.304000	0.77564	0.528000	0.53228	TTT		0.393	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		G	165768159	A	G	165768159	3	3	183	1	0	0	0	0	1	0	0	0	14609	14	1	3	450	3	SLC38A11	2	165768159	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	5473015	165768159	77431214	106	10803											
XIRP2	129446	broad.mit.edu	37	2	168099974	168099974	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:168099974C>A	ENST00000409195.1	+	9	2161	c.2072C>A	c.(2071-2073)aCt>aAt	p.T691N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T691N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T469N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	516					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTCAAGACTGTGAGATAC	0.403																																																0													83	80	81					2																	168099974		1940	4139	6079	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2072C>A	2.37:g.168099974C>A	ENSP00000386840:p.Thr691Asn		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533235	0.64972	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03124	4.04;4.04;4.04	5.93	5.93	0.95920	.	0.166659	0.52532	D	0.000070	T	0.11410	0.0278	L	0.60845	1.875	0.41481	D	0.988169	D;D;D	0.57257	0.964;0.979;0.979	P;P;P	0.58454	0.694;0.839;0.839	T	0.00201	-1.1926	10	0.52906	T	0.07	-9.9031	11.577	0.50866	0.0:0.8629:0.0:0.1371	.	516;516;469	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	691;691;469	ENSP00000386840:T691N;ENSP00000295237:T691N;ENSP00000387255:T469N	ENSP00000295237:T691N	T	+	2	0	XIRP2	167808220	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.897000	0.48664	2.814000	0.96858	0.655000	0.94253	ACT		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168099974	C	A	168099974	3	1	183	1	0	0	0	0	1	0	0	0	17435	565	20	4	2102	4	XIRP2	2	168099974	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2331815	168099974	75099399	107	10804											
LRP2	4036	broad.mit.edu	37	2	170030631	170030631	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:170030631T>C	ENST00000263816.3	-	56	11097	c.10812A>G	c.(10810-10812)aaA>aaG	p.K3604K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3604	LDL-receptor class A 28. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GGATGCAACGTTTGTTGGCGC	0.507																																																0													101	84	90					2																	170030631		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10812A>G	2.37:g.170030631T>C			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.507	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170030631	T	C	170030631	2	2	183	1	0	0	0	0	0	0	0	1	8958	1722	60	3		3	LRP2	2	170030631	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1930657	170030631	73168742	108	10805											
MYO3B	140469	broad.mit.edu	37	2	171092598	171092598	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:171092598C>A	ENST00000408978.4	+	7	844	c.701C>A	c.(700-702)cCt>cAt	p.P234H	MYO3B_ENST00000334231.6_Missense_Mutation_p.P243H|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.P234H	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GATGGAGACCCTCCCCTCTTT	0.488											OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													192	179	183					2																	171092598		1975	4170	6145	SO:0001583	missense	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.701C>A	2.37:g.171092598C>A	ENSP00000386213:p.Pro234His	1890	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725923	0.89298	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.78223	2.4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.998;1.0	T	0.45585	-0.9251	10	0.87932	D	0	.	19.7017	0.96057	0.0:1.0:0.0:0.0	.	234;234;234;234	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	H	234;234;233;243;243	ENSP00000386497:P234H;ENSP00000386213:P234H;ENSP00000446237:P243H;ENSP00000335100:P243H	ENSP00000314213:P233H	P	+	2	0	MYO3B	170800844	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.724000	0.93272	0.561000	0.74099	CCT		0.488	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			A	171092598	C	A	171092598	3	1	183	1	0	0	0	0	1	0	0	0	10079	681	24	4	727	4	MYO3B	2	171092598	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1061967	171092598	72106775	109	10806											
TTN	7273	broad.mit.edu	37	2	179400235	179400235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:179400235G>A	ENST00000591111.1	-	308	96408	c.96184C>T	c.(96184-96186)Cga>Tga	p.R32062*	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R31135*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R24763*|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R24638*|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R24830*|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R33703*			Q8WZ42	TITIN_HUMAN	titin	32062	Fibronectin type-III 132. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGAATCTCGTGAGACATCA	0.438																																																0													84	88	87					2																	179400235		2045	4207	6252	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96184C>T	2.37:g.179400235G>A	ENSP00000465570:p.Arg32062*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	70	111.293840	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.59	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.4089	0.49915	0.0:0.0:0.4406:0.5594	.	.	.	.	X	31135;24638;24830;24763;24635	.	ENSP00000340554:R24830X	R	-	1	2	TTN	179108481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.551000	0.45820	1.419000	0.47118	0.557000	0.71058	CGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179400235	G	A	179400235	4	1	183	1	0	0	0	0	0	1	0	0	16740	1153	40	1	6892	1	TTN	2	179400235	Nonsense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	8307637	179400235	63799138	110	10807											
TTN	7273	broad.mit.edu	37	2	179604723	179604723	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:179604723C>A	ENST00000591111.1	-	46	12510	c.12286G>T	c.(12286-12288)Ggt>Tgt	p.G4096C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.G4175C|TTN_ENST00000460472.2_Missense_Mutation_p.G4050C|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G4242C|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G4413C			Q8WZ42	TITIN_HUMAN	titin	0					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)			GAGAAAAGACCTGGCTGCTCG	0.473																																																0													80	81	81					2																	179604723		1931	4123	6054	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12286G>T	2.37:g.179604723C>A	ENSP00000465570:p.Gly4096Cys		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	6.016	0.371308	0.11409	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59224	0.32;0.29;0.28	5.56	4.44	0.53790	.	.	.	.	.	T	0.34571	0.0902	N	0.08118	0	0.09310	N	1	B;B;B	0.24368	0.102;0.102;0.102	B;B;B	0.27262	0.042;0.042;0.078	T	0.26224	-1.0109	9	0.87932	D	0	.	2.6167	0.04906	0.1387:0.0897:0.1629:0.6086	.	4050;4175;4242	D3DPF9;E7EQE6;E7ET18	.;.;.	C	4050;4242;4175;4050	ENSP00000434586:G4050C;ENSP00000340554:G4242C;ENSP00000352154:G4175C	ENSP00000340554:G4242C	G	-	1	0	TTN	179312968	0.001000	0.12720	0.663000	0.29738	0.549000	0.35272	0.463000	0.21972	0.993000	0.38866	0.655000	0.94253	GGT		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179604723	C	A	179604723	3	1	183	1	0	0	0	0	1	0	0	0	16740	681	24	4	91552	4	TTN	2	179604723	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	204488	179604723	63594650	111	10808											
HECW2	57520	broad.mit.edu	37	2	197092917	197092917	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:197092917G>T	ENST00000260983.3	-	22	4008	c.3826C>A	c.(3826-3828)Cca>Aca	p.P1276T	HECW2_ENST00000409111.1_Missense_Mutation_p.P920T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1276	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCATAATATGGGTTAAAGAGT	0.353																																																0													88	90	90					2																	197092917		2203	4300	6503	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3826C>A	2.37:g.197092917G>T	ENSP00000260983:p.Pro1276Thr		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727227	0.89390	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.59083	0.29;0.29	5.44	5.44	0.79542	HECT (4);	0.000000	0.85682	D	0.000000	T	0.81143	0.4761	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83968	0.0325	10	0.87932	D	0	.	19.4586	0.94906	0.0:0.0:1.0:0.0	.	1276	Q9P2P5	HECW2_HUMAN	T	920;1276	ENSP00000386775:P920T;ENSP00000260983:P1276T	ENSP00000260983:P1276T	P	-	1	0	HECW2	196801162	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.828000	0.97474	0.655000	0.94253	CCA		0.353	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197092917	G	T	197092917	3	4	183	1	0	0	0	0	1	0	0	0	7045	1232	43	4	924	4	HECW2	2	197092917	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	17488194	197092917	46106456	112	10809											
HECW2	57520	broad.mit.edu	37	2	197157345	197157345	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:197157345T>C	ENST00000260983.3	-	14	3126	c.2944A>G	c.(2944-2946)Aac>Gac	p.N982D	RN7SL820P_ENST00000583941.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.N626D	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	982	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGCTGTTTGTTCGCGAACATG	0.542																																																0													206	160	176					2																	197157345		2203	4300	6503	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2944A>G	2.37:g.197157345T>C	ENSP00000260983:p.Asn982Asp		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	6.111	0.388792	0.11581	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.82803	-1.65;-1.65	5.09	3.95	0.45737	WW/Rsp5/WWP (2);	0.047265	0.85682	D	0.000000	T	0.67887	0.2941	N	0.13140	0.3	0.51767	D	0.999938	P	0.52463	0.953	P	0.47603	0.551	T	0.68554	-0.5378	10	0.02654	T	1	.	7.8472	0.29433	0.0:0.158:0.0:0.842	.	982	Q9P2P5	HECW2_HUMAN	D	626;982	ENSP00000386775:N626D;ENSP00000260983:N982D	ENSP00000260983:N982D	N	-	1	0	HECW2	196865590	1.000000	0.71417	0.858000	0.33744	0.994000	0.84299	5.790000	0.69038	0.982000	0.38575	0.533000	0.62120	AAC		0.542	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		C	197157345	T	C	197157345	3	2	183	1	0	0	0	0	1	0	0	0	7045	1783	62	3	1838	3	HECW2	2	197157345	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	64428	197157345	46042028	113	10810											
ALS2	57679	broad.mit.edu	37	2	202591542	202591542	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:202591542T>C	ENST00000264276.6	-	18	3399	c.3027A>G	c.(3025-3027)agA>agG	p.R1009R	ALS2_ENST00000457679.2_Silent_p.R321R	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1009					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CAGACATCCCTCTCAAAGCCT	0.448																																																0													62	62	62					2																	202591542		1922	4149	6071	SO:0001819	synonymous_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3027A>G	2.37:g.202591542T>C			Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	CCDS42800.1																																																																																				0.448	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		C	202591542	T	C	202591542	2	2	183	1	0	0	0	0	0	0	0	1	550	1548	54	3		3	ALS2	2	202591542	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	5434197	202591542	40607831	114	10811											
RAPH1	65059	broad.mit.edu	37	2	204304389	204304389	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:204304389C>T	ENST00000319170.5	-	14	3823	c.3524G>A	c.(3523-3525)cGa>cAa	p.R1175Q	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.R1227Q|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1175					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATGGACTTTCGTTGCAGTGT	0.567																																																0													132	121	125					2																	204304389		2203	4300	6503	SO:0001583	missense	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3524G>A	2.37:g.204304389C>T	ENSP00000316543:p.Arg1175Gln		Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403615	0.83230	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.70164	-0.46;-0.38	5.18	5.18	0.71444	.	0.658638	0.11508	U	0.557017	T	0.76969	0.4062	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.77013	-0.2745	10	0.87932	D	0	-7.9208	18.6811	0.91546	0.0:1.0:0.0:0.0	.	1175	Q70E73	RAPH1_HUMAN	Q	1175;1227	ENSP00000316543:R1175Q;ENSP00000363617:R1227Q	ENSP00000316543:R1175Q	R	-	2	0	RAPH1	204012634	1.000000	0.71417	0.987000	0.45799	0.918000	0.54935	7.726000	0.84824	2.405000	0.81733	0.563000	0.77884	CGA		0.567	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		T	204304389	C	T	204304389	3	4	183	1	0	0	0	0	1	0	0	0	13056	884	31	1	232	1	RAPH1	2	204304389	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1712847	204304389	38894984	115	10812											
NRP2	8828	broad.mit.edu	37	2	206562300	206562300	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:206562300G>A	ENST00000357785.5	+	2	137	c.106G>A	c.(106-108)Gat>Aat	p.D36N	NRP2_ENST00000355117.4_Missense_Mutation_p.D36N|NRP2_ENST00000540841.1_Missense_Mutation_p.D36N|NRP2_ENST00000540178.1_Missense_Mutation_p.D36N|NRP2_ENST00000357118.4_Missense_Mutation_p.D36N|NRP2_ENST00000360409.3_Missense_Mutation_p.D36N|NRP2_ENST00000272849.3_Missense_Mutation_p.D36N|NRP2_ENST00000417189.1_Missense_Mutation_p.D36N|NRP2_ENST00000412873.2_Missense_Mutation_p.D36N			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAATTCCAAAGATGCTGGCTA	0.512																																																0													313	299	303					2																	206562300		2203	4300	6503	SO:0001583	missense	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.106G>A	2.37:g.206562300G>A	ENSP00000350432:p.Asp36Asn		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945512	0.53079	.	.	ENSG00000118257	ENST00000340626;ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000450507;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.37	5.37	0.77165	CUB (5);	0.092424	0.64402	D	0.000001	T	0.28134	0.0694	N	0.13327	0.33	0.48632	D	0.999689	B;B;P;B;B;B	0.52842	0.007;0.013;0.956;0.026;0.026;0.004	B;B;D;B;B;B	0.79108	0.031;0.031;0.992;0.057;0.057;0.021	T	0.14924	-1.0455	10	0.48119	T	0.1	-18.4585	19.1206	0.93362	0.0:0.0:1.0:0.0	.	36;36;36;36;36;36	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	N	36	ENSP00000353582:D36N;ENSP00000439658:D36N;ENSP00000439261:D36N;ENSP00000347238:D36N;ENSP00000404279:D36N;ENSP00000387519:D36N;ENSP00000349632:D36N;ENSP00000350432:D36N;ENSP00000407626:D36N;ENSP00000272849:D36N	ENSP00000272849:D36N	D	+	1	0	NRP2	206270545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.255000	0.65462	2.497000	0.84241	0.655000	0.94253	GAT		0.512	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			A	206562300	G	A	206562300	3	1	183	1	0	0	0	0	1	0	0	0	10663	942	33	2	112	2	NRP2	2	206562300	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2257911	206562300	36637073	116	10813											
MYL1	4632	broad.mit.edu	37	2	211159122	211159122	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:211159122C>G	ENST00000352451.3	-	4	472	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	MYL1_ENST00000341685.4_Missense_Mutation_p.E65Q|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	109					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TGTTCAAACTCAATTTTCTTG	0.378																																																0													131	121	124					2																	211159122		2203	4300	6503	SO:0001583	missense	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"Myosins / Light chain", "EF-hand domain containing"	7582	protein-coding gene	gene with protein product		160780	"myosin, light polypeptide 1, alkali; skeletal, fast"			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.325G>C	2.37:g.211159122C>G	ENSP00000307280:p.Glu109Gln		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283371	0.59867	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.80033	-1.33;-1.33	5.77	5.77	0.91146	EF-hand-like domain (1);	0.292891	0.42420	D	0.000712	D	0.82476	0.5045	M	0.84082	2.675	0.40627	D	0.981823	P;B	0.36789	0.57;0.409	B;B	0.37451	0.25;0.211	D	0.85147	0.0984	10	0.87932	D	0	.	13.7042	0.62627	0.0:0.9209:0.0:0.0791	.	109;65	P05976;P05976-2	MYL1_HUMAN;.	Q	65;109	ENSP00000343321:E65Q;ENSP00000307280:E109Q	ENSP00000343321:E65Q	E	-	1	0	MYL1	210867367	0.937000	0.31787	1.000000	0.80357	0.998000	0.95712	1.972000	0.40540	2.752000	0.94435	0.650000	0.86243	GAG		0.378	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		G	211159122	C	G	211159122	3	3	183	1	0	0	0	0	1	0	0	0	10045	835	29	4	271	4	MYL1	2	211159122	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	4596822	211159122	32040251	117	10814											
CCDC108	255101	broad.mit.edu	37	2	219900111	219900111	+	Intron	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:219900111delT	ENST00000341552.5	-	5	626				CCDC108_ENST00000295729.2_Frame_Shift_Del_p.K146fs|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000324264.6_Frame_Shift_Del_p.K146fs|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000441968.1_Intron|CCDC108_ENST00000409865.3_Intron	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTTAAAGgttttttttgtt	0.378																																																0													44	47	46					2																	219900111		2203	4298	6501	SO:0001627	intron_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.542+90A>-	2.37:g.219900111delT			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	CCDS2430.2																																																																																				0.378	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		-	219900111	T	-	219900111	6	5	183	0	1	1	0	1	0	0	0	0	2745	1722	60	0		0	CCDC108	2	219900111	Intron	DEL	T	TCGA-B0-5098-01A-01D-1421-08	8740989	219900111	23299262	118	10815											
DNAJB2	3300	broad.mit.edu	37	2	220149689	220149689	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:220149689T>C	ENST00000336576.5	+	9	1243	c.955T>C	c.(955-957)Tct>Cct	p.S319P	DNAJB2_ENST00000392086.4_Intron	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	319					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGAAGGCCTCTCGCTGCCT	0.617																																																0													20	21	21					2																	220149689		2189	4269	6458	SO:0001583	missense	3300				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"Heat shock proteins / DNAJ (HSP40)"	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.955T>C	2.37:g.220149689T>C	ENSP00000338019:p.Ser319Pro		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	ENST00000336576.5	37	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598056	0.46318	.	.	ENSG00000135924	ENST00000336576	T	0.62364	0.03	4.32	1.81	0.25067	.	.	.	.	.	T	0.42108	0.1188	L	0.27053	0.805	0.80722	D	1	B	0.32693	0.38	B	0.28709	0.093	T	0.23868	-1.0176	9	0.66056	D	0.02	.	4.9021	0.13781	0.3063:0.0:0.3157:0.3781	.	319	P25686	DNJB2_HUMAN	P	319	ENSP00000338019:S319P	ENSP00000338019:S319P	S	+	1	0	DNAJB2	219857933	0.941000	0.31946	0.999000	0.59377	0.986000	0.74619	0.468000	0.22051	0.179000	0.19938	0.379000	0.24179	TCT		0.617	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			C	220149689	T	C	220149689	3	2	183	1	0	0	0	0	1	0	0	0	4622	1551	54	3	985	3	DNAJB2	2	220149689	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	249578	220149689	23049684	119	10816											
COL4A4	1286	broad.mit.edu	37	2	227945177	227945177	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:227945177T>C	ENST00000396625.3	-	24	1992	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_ENST00000329662.7_Silent_p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	595	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463																																																0													126	126	126					2																	227945177		1858	4099	5957	SO:0001819	synonymous_variant	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1785A>G	2.37:g.227945177T>C			A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	CCDS42828.1																																																																																				0.463	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		C	227945177	T	C	227945177	2	2	183	1	0	0	0	0	0	0	0	1	3695	1606	56	3		3	COL4A4	2	227945177	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	7795488	227945177	15254196	120	10817											
TRIP12	9320	broad.mit.edu	37	2	230654396	230654396	+	Silent	SNP	C	C	T	rs146874504	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:230654396C>T	ENST00000283943.5	-	30	4579	c.4401G>A	c.(4399-4401)ccG>ccA	p.P1467P	TRIP12_ENST00000389044.4_Silent_p.P1515P|TRIP12_ENST00000389045.3_Silent_p.P1197P	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1467					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CATCTAATGACGGGTCTTCAA	0.358																																																0								C		2,4404	4.2+/-10.8	0,2,2201	182	176	178		4401	-10.6	0.9	2	dbSNP_134	178	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TRIP12	NM_004238.1		0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384		1467/1993	230654396	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4401G>A	2.37:g.230654396C>T			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	CCDS33391.1																																																																																				0.358	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		T	230654396	C	T	230654396	2	4	183	1	0	0	0	0	0	0	0	1	16561	523	19	1		1	TRIP12	2	230654396	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2709219	230654396	12544977	121	10818											
ITM2C	81618	broad.mit.edu	37	2	231741659	231741659	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:231741659T>G	ENST00000326427.6	+	4	664	c.538T>G	c.(538-540)Tgg>Ggg	p.W180G	ITM2C_ENST00000335005.6_Missense_Mutation_p.W133G|ITM2C_ENST00000409704.2_Missense_Mutation_p.W118G|ITM2C_ENST00000326407.6_Intron|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	180	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TCGCAACTTCTGGGAGCTCCT	0.582																																																0													118	115	116					2																	231741659		2203	4300	6503	SO:0001583	missense	81618			AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"BRICHOS domain containing"	6175	protein-coding gene	gene with protein product	"BRICHOS domain containing 2C"	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.538T>G	2.37:g.231741659T>G	ENSP00000322730:p.Trp180Gly		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	37	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.431430	0.62844	.	.	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T	0.78481	1.11;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.8	4.45	0.53987	BRICHOS (2);	0.065187	0.64402	D	0.000002	T	0.80037	0.4550	L	0.41236	1.265	0.50039	D	0.999844	P;D	0.76494	0.893;0.999	P;D	0.68483	0.496;0.958	T	0.79130	-0.1930	10	0.46703	T	0.11	-12.0443	8.3194	0.32119	0.0:0.0996:0.0:0.9004	.	133;180	Q9NQX7-2;Q9NQX7	.;ITM2C_HUMAN	G	180;118;180;133;118;118;118	ENSP00000390655:W180G;ENSP00000440295:W118G;ENSP00000322730:W180G;ENSP00000335121:W133G;ENSP00000444899:W118G;ENSP00000387242:W118G;ENSP00000403257:W118G	ENSP00000322730:W180G	W	+	1	0	ITM2C	231449903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.174000	0.50847	2.209000	0.71365	0.533000	0.62120	TGG		0.582	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		G	231741659	T	G	231741659	3	3	183	1	0	0	0	0	1	0	0	0	7916	1580	55	5	552	5	ITM2C	2	231741659	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1087263	231741659	11457714	122	10819											
PSMD1	5707	broad.mit.edu	37	2	231948335	231948335	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:231948335A>G	ENST00000308696.6	+	14	1742	c.1580A>G	c.(1579-1581)cAg>cGg	p.Q527R	PSMD1_ENST00000409643.1_Missense_Mutation_p.Q527R|PSMD1_ENST00000373635.4_Missense_Mutation_p.Q527R	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	527					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 protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAAAATGCTCAGGCTATTGAG	0.433																																																0													194	184	187					2																	231948335		2203	4300	6503	SO:0001583	missense	5707			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1580A>G	2.37:g.231948335A>G	ENSP00000309474:p.Gln527Arg		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	CCDS2482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.30|15.30	2.792402|2.792402	0.50102|0.50102	.|.	.|.	ENSG00000173692|ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643|ENST00000447633	T;T;T|.	0.31510|.	1.49;1.49;1.49|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.105797|.	0.64402|.	D|.	0.000002|.	T|T	0.52370|0.52370	0.1730|0.1730	N|N	0.20845|0.20845	0.615|0.615	0.80722|0.80722	D|D	1|1	B;B|.	0.12013|.	0.005;0.005|.	B;B|.	0.18561|.	0.021;0.022|.	T|T	0.49504|0.49504	-0.8933|-0.8933	10|5	0.28530|.	T|.	0.3|.	-12.1463|-12.1463	16.3871|16.3871	0.83514|0.83514	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	527;527|.	Q99460;Q99460-2|.	PSMD1_HUMAN;.|.	R|G	527|20	ENSP00000309474:Q527R;ENSP00000362738:Q527R;ENSP00000386932:Q527R|.	ENSP00000309474:Q527R|.	Q|R	+|+	2|1	0|2	PSMD1|PSMD1	231656579|231656579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.179000|7.179000	0.77665|0.77665	2.265000|2.265000	0.75225|0.75225	0.533000|0.533000	0.62120|0.62120	CAG|AGG		0.433	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			G	231948335	A	G	231948335	3	3	183	1	0	0	0	0	1	0	0	0	12697	188	7	3	1634	3	PSMD1	2	231948335	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	206676	231948335	11251038	123	10820											
DIS3L2	129563	broad.mit.edu	37	2	233195446	233195446	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:233195446G>T	ENST00000409307.1	+	15	1970	c.1970G>T	c.(1969-1971)cGc>cTc	p.R657L	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Missense_Mutation_p.R657L					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TCACTGGCCCGCAAGGAGGTG	0.592																																																0													151	165	160					2																	233195446		1963	4156	6119	SO:0001583	missense	129563			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1970G>T	2.37:g.233195446G>T	ENSP00000386799:p.Arg657Leu			Missense_Mutation	SNP	ENST00000409307.1	37	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	N	19.14	3.769685	0.69992	.	.	ENSG00000144535	ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T	0.34859	1.34;1.34;1.34	5.06	5.06	0.68205	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	L	0.35593	1.075	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.10894	-1.0610	10	0.07813	T	0.8	-22.7191	18.0995	0.89501	0.0:0.0:1.0:0.0	.	657	Q8IYB7	DI3L2_HUMAN	L	657;657;657;292	ENSP00000315569:R657L;ENSP00000386799:R657L;ENSP00000415419:R292L	ENSP00000315569:R657L	R	+	2	0	DIS3L2	232903690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.085000	0.64468	2.348000	0.79779	0.644000	0.83932	CGC		0.592	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		T	233195446	G	T	233195446	3	4	183	1	0	0	0	0	1	0	0	0	4539	1087	38	4	2028	4	DIS3L2	2	233195446	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1247111	233195446	10003927	124	10821											
ECEL1	9427	broad.mit.edu	37	2	233347836	233347836	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:233347836A>G	ENST00000304546.1	-	9	1770	c.1560T>C	c.(1558-1560)gaT>gaC	p.D520D	ECEL1_ENST00000409941.1_Silent_p.D520D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	520					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGTCCACAGCATCGGGTTTCA	0.647																																																0													57	37	44					2																	233347836		2203	4300	6503	SO:0001819	synonymous_variant	9427			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1560T>C	2.37:g.233347836A>G			Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	CCDS2493.1																																																																																				0.647	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		G	233347836	A	G	233347836	2	3	183	1	0	0	0	0	0	0	0	1	4893	214	8	3		3	ECEL1	2	233347836	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	152390	233347836	9851537	125	10822											
NGEF	25791	broad.mit.edu	37	2	233839410	233839410	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:233839410A>G	ENST00000264051.3	-	2	469	c.191T>C	c.(190-192)aTc>aCc	p.I64T		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	64	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCGATTGAAGATGGAATTTCT	0.493																																																0													321	300	307					2																	233839410		2203	4300	6503	SO:0001583	missense	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.191T>C	2.37:g.233839410A>G	ENSP00000264051:p.Ile64Thr		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	CCDS2500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.574|7.574	0.667323|0.667323	0.14710|0.14710	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000264051|ENST00000414326	T|.	0.73047|.	-0.71|.	5.06|5.06	2.66|2.66	0.31614|0.31614	.|.	1.130330|.	0.06716|.	N|.	0.774081|.	T|T	0.39226|0.39226	0.1070|0.1070	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.07539|0.07539	-1.0767|-1.0767	10|5	0.08837|.	T|.	0.75|.	-14.467|-14.467	7.1654|7.1654	0.25687|0.25687	0.817:0.0:0.183:0.0|0.817:0.0:0.183:0.0	.|.	64|.	Q8N5V2|.	NGEF_HUMAN|.	T|P	64|33	ENSP00000264051:I64T|.	ENSP00000264051:I64T|.	I|S	-|-	2|1	0|0	NGEF|NGEF	233547654|233547654	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.041000|0.041000	0.13682|0.13682	1.701000|1.701000	0.37825|0.37825	0.465000|0.465000	0.27167|0.27167	-0.290000|-0.290000	0.09829|0.09829	ATC|TCT		0.493	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		G	233839410	A	G	233839410	3	3	183	1	0	0	0	0	1	0	0	0	10396	333	12	3	2108	3	NGEF	2	233839410	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	491574	233839410	9359963	126	10823											
UGT1A1	54658	broad.mit.edu	37	2	234669127	234669127	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr2:234669127C>T	ENST00000608383.1	+	1	194	c.194C>T	c.(193-195)tCg>tTg	p.S65L	UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.S65L|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.S65L|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	65					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CCTGACGCCTCGTTGTACATC	0.517																																																0													172	144	154					2																	234669127		2203	4300	6503	SO:0001583	missense	54658			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.194C>T	2.37:g.234669127C>T	ENSP00000476741:p.Ser65Leu		A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767290	0.31320	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.60299	0.2;0.2	6.07	2.01	0.26516	.	.	.	.	.	T	0.61602	0.2360	M	0.74881	2.28	0.09310	N	1	P;P	0.51449	0.945;0.94	P;P	0.50825	0.651;0.473	T	0.53954	-0.8365	9	0.72032	D	0.01	.	4.3051	0.10942	0.3635:0.3691:0.1986:0.0688	.	65;65	A6NJC3;P22309	.;UD11_HUMAN	L	65	ENSP00000304845:S65L;ENSP00000353593:S65L	ENSP00000304845:S65L	S	+	2	0	UGT1A1	234333866	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	-0.279000	0.08479	0.404000	0.25506	0.650000	0.86243	TCG		0.517	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				T	234669127	C	T	234669127	3	4	183	1	0	0	0	0	1	0	0	0	16949	893	31	1	196	1	UGT1A1	2	234669127	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	829717	234669127	8530246	127	10824											
SEC13	6396	broad.mit.edu	37	3	10346828	10346828	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:10346828G>A	ENST00000350697.3	-	7	722	c.597C>T	c.(595-597)gaC>gaT	p.D199D	SEC13_ENST00000397109.3_Silent_p.D185D|SEC13_ENST00000337354.4_Silent_p.D202D|SEC13_ENST00000383801.2_Silent_p.D245D|SEC13_ENST00000492602.1_5'Flank|SEC13_ENST00000397117.1_Silent_p.D185D	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	199					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TCCACTGGCCGTCCTCCTCCT	0.632																																																0													97	86	90					3																	10346828		2203	4300	6503	SO:0001819	synonymous_variant	6396				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"WD repeat domain containing"	10697	protein-coding gene	gene with protein product		600152	"SEC13 (S. cerevisiae)-like 1", "SEC13-like 1 (S. cerevisiae)"	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.597C>T	3.37:g.10346828G>A			A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Silent	SNP	ENST00000350697.3	37	CCDS2599.1																																																																																				0.632	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3			A	10346828	G	A	10346828	2	1	183	1	0	0	0	0	0	0	0	1	13986	1136	40	1		1	SEC13	3	10346828	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08		10346828	187675602	128	10825											
GALNTL2	117248	broad.mit.edu	37	3	16216674	16216674	+	Nonsense_Mutation	SNP	C	C	T	rs199640081	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:16216674C>T	ENST00000339732.5	+	1	519	c.16C>T	c.(16-18)Cga>Tga	p.R6*	GALNT15_ENST00000437509.1_Nonsense_Mutation_p.R6*	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	6					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCTAAGGAAGCGATACAGGCA	0.542													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22096	0.0		0.0	False		,,,				2504	0.0															0													111	98	102					3																	16216674		2203	4300	6503	SO:0001587	stop_gained	117248			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.16C>T	3.37:g.16216674C>T	ENSP00000344260:p.Arg6*		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Nonsense_Mutation	SNP	ENST00000339732.5	37	CCDS33711.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	37	6.198112	0.97367	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	.	.	.	4.74	2.77	0.32553	.	0.359320	0.25735	N	0.028657	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.404	0.26981	0.3048:0.5585:0.1367:0.0	.	.	.	.	X	6	.	ENSP00000344260:R6X	R	+	1	2	GALNTL2	16191678	0.978000	0.34361	0.878000	0.34440	0.012000	0.07955	0.787000	0.26858	1.125000	0.41998	-0.464000	0.05259	CGA		0.542	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		T	16216674	C	T	16216674	4	4	183	1	0	0	0	0	0	1	0	0	6224	760	27	1	18	1	GALNTL2	3	16216674	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	5869846	16216674	181805756	129	10826											
MLH1	4292	broad.mit.edu	37	3	37070364	37070365	+	Frame_Shift_Ins	INS	-	-	CATTAACCTCA	rs63751146|rs587778920		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:37070364_37070365insCATTAACCTCA	ENST00000231790.2	+	13	1715_1716	c.1499_1500insCATTAACCTCA	c.(1498-1503)atcattfs	p.-504fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.-406fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.-263fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.-263fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.-263fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.-263fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CGGAGAAGGATCATTAACCTCA	0.485		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	1	Whole gene deletion(1)	ovary(1)	GRCh37	CD023714	MLH1	D																																				SO:0001589	frameshift_variant	4292	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	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1500_1510dupCATTAACCTCA	3.37:g.37070365_37070375dupCATTAACCTCA	ENSP00000231790:p.Thr504fs		B4DI13|B4DQ11|E9PCU2	Frame_Shift_Ins	INS	ENST00000231790.2	37	CCDS2663.1																																																																																				0.485	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		CATTAACCTCA	37070365	-	CATTAACCTCA	37070364	7	5	183	1	0	1	1	0	0	0	0	0	9619	1435	50	0	1549	0	MLH1	3	37070364	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	20853690	37070364	160952066	130	10827											
LRRFIP2	9209	broad.mit.edu	37	3	37125271	37125271	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:37125271delT	ENST00000336686.4	-	19	1214	c.1134delA	c.(1132-1134)aaafs	p.K378fs	LRRFIP2_ENST00000354379.4_Frame_Shift_Del_p.K122fs|LRRFIP2_ENST00000421307.1_Frame_Shift_Del_p.K378fs|LRRFIP2_ENST00000440230.1_Frame_Shift_Del_p.K146fs|LRRFIP2_ENST00000396428.2_Frame_Shift_Del_p.K194fs|LRRFIP2_ENST00000421276.2_Frame_Shift_Del_p.K146fs			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	378					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTTTCTTGTATTTTTCTTCCA	0.338																																																1	Whole gene deletion(1)	ovary(1)											150	141	144					3																	37125271		2203	4300	6503	SO:0001589	frameshift_variant	9209			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1134delA	3.37:g.37125271delT	ENSP00000338727:p.Lys378fs		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Frame_Shift_Del	DEL	ENST00000336686.4	37	CCDS2664.1																																																																																				0.338	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		-	37125271	T	-	37125271	7	5	183	1	0	1	0	1	0	0	0	0	9030	1490	52	0	1071	0	LRRFIP2	3	37125271	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	54907	37125271	160897159	131	10828											
PLCD1	5333	broad.mit.edu	37	3	38050545	38050545	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:38050545C>A	ENST00000334661.4	-	11	1933	c.1711G>T	c.(1711-1713)Ggc>Tgc	p.G571C	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.G592C	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	571	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ATCTGGCAGCCCCCATTCCAC	0.642																																																0													51	50	50					3																	38050545		2203	4300	6503	SO:0001583	missense	5333				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1711G>T	3.37:g.38050545C>A	ENSP00000335600:p.Gly571Cys		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463609	0.84425	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	D;D	0.92099	-2.97;-2.97	5.19	5.19	0.71726	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	H	0.99357	4.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99655	1.0992	10	0.87932	D	0	.	18.6889	0.91576	0.0:1.0:0.0:0.0	.	571;592	P51178;B3KR14	PLCD1_HUMAN;.	C	592;571	ENSP00000430344:G592C;ENSP00000335600:G571C	ENSP00000335600:G571C	G	-	1	0	PLCD1	38025549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.611000	0.88343	0.561000	0.74099	GGC		0.642	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			A	38050545	C	A	38050545	3	1	183	1	0	0	0	0	1	0	0	0	12033	623	22	4	579	4	PLCD1	3	38050545	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	925274	38050545	159971885	132	10829											
ZNF619	285267	broad.mit.edu	37	3	40524165	40524165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:40524165delG	ENST00000314686.5	+	4	572	c.167delG	c.(166-168)tggfs	p.W56fs	ZNF619_ENST00000456778.1_Frame_Shift_Del_p.G46fs|ZNF619_ENST00000522736.1_Frame_Shift_Del_p.W56fs|ZNF619_ENST00000429348.2_Frame_Shift_Del_p.G90fs|ZNF619_ENST00000432264.2_Frame_Shift_Del_p.G90fs|ZNF619_ENST00000447116.2_Frame_Shift_Del_p.G130fs|ZNF619_ENST00000521353.1_Frame_Shift_Del_p.G130fs|ZNF619_ENST00000520737.1_3'UTR			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GACACTTGCTGGGGGAGAGGC	0.522																																																0													91	91	91					3																	40524165		2203	4300	6503	SO:0001589	frameshift_variant	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.167delG	3.37:g.40524165delG	ENSP00000322529:p.Trp56fs		B4E271|C9JRN5|D4PHA2|E9PCD9	Frame_Shift_Del	DEL	ENST00000314686.5	37																																																																																					0.522	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		-	40524165	G	-	40524165	7	5	183	1	0	1	0	1	0	0	0	0	18048	1348	47	0	421	0	ZNF619	3	40524165	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	2473620	40524165	157498265	133	10830											
KIF15	56992	broad.mit.edu	37	3	44844357	44844357	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:44844357A>G	ENST00000326047.4	+	14	1710	c.1561A>G	c.(1561-1563)Agg>Ggg	p.R521G	KIF15_ENST00000425755.1_Missense_Mutation_p.R156G	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	521					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TCATTCCCTCAGGGAGGAGAA	0.383																																																0													97	99	99					3																	44844357		2203	4300	6503	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1561A>G	3.37:g.44844357A>G	ENSP00000324020:p.Arg521Gly		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959581	0.74016	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.80123	-0.46;-1.34;1.45	5.87	2.0	0.26442	Kinesin-like, KLP2 (1);	0.000000	0.56097	D	0.000027	D	0.87196	0.6117	M	0.66939	2.045	0.47407	D	0.999413	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.85774	0.1357	10	0.52906	T	0.07	.	13.5008	0.61454	0.6284:0.3716:0.0:0.0	.	156;521	C9JKA9;Q9NS87	.;KIF15_HUMAN	G	521;293;520;156	ENSP00000324020:R521G;ENSP00000425499:R293G;ENSP00000389982:R156G	ENSP00000324020:R521G	R	+	1	2	KIF15	44819361	0.977000	0.34250	1.000000	0.80357	0.995000	0.86356	0.850000	0.27737	0.095000	0.17434	-0.316000	0.08728	AGG		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			G	44844357	A	G	44844357	3	3	183	1	0	0	0	0	1	0	0	0	8279	179	7	3	1615	3	KIF15	3	44844357	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	4320192	44844357	153178073	134	10831											
SETD2	29072	broad.mit.edu	37	3	47155460	47155460	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:47155460T>G	ENST00000409792.3	-	5	4663	c.4621A>C	c.(4621-4623)Aat>Cat	p.N1541H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1541	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACCGTCTATTGGAACAATAA	0.398			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													132	131	132					3																	47155460		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4621A>C	3.37:g.47155460T>G	ENSP00000386759:p.Asn1541His		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368108	0.82463	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.86627	-2.15	5.23	5.23	0.72850	AWS (2);	0.000000	0.64402	D	0.000015	D	0.94291	0.8166	H	0.97023	3.925	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.53549	0.729;0.729	D	0.96100	0.9068	10	0.87932	D	0	.	15.3913	0.74747	0.0:0.0:0.0:1.0	.	1541;1541	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1541	ENSP00000386759:N1541H	ENSP00000386759:N1541H	N	-	1	0	SETD2	47130464	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.632000	0.83247	2.101000	0.63845	0.477000	0.44152	AAT		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47155460	T	G	47155460	3	3	183	1	0	0	0	0	1	0	0	0	14137	1812	63	5	3141	5	SETD2	3	47155460	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2311103	47155460	150866970	135	10832											
SMARCC1	6599	broad.mit.edu	37	3	47677513	47677513	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:47677513T>C	ENST00000254480.5	-	23	2609	c.2490A>G	c.(2488-2490)tcA>tcG	p.S830S	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	830	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCAAATTACCTGATTTGGTAT	0.323																																																0													180	167	171					3																	47677513		2203	4300	6503	SO:0001630	splice_region_variant	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2491+1A>G	3.37:g.47677513T>C			Q17RS0|Q6P172|Q8IWH2	Splice_Site	SNP	ENST00000254480.5	37	CCDS2758.1																																																																																				0.323	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1		Silent	C	47677513	T	C	47677513	5	2	183	1	0	0	0	0	0	0	1	0	14781	1594	55	3	851	3	SMARCC1	3	47677513	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	522053	47677513	150344917	136	10833											
USP19	10869	broad.mit.edu	37	3	49153190	49153190	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:49153190A>G	ENST00000398888.2	-	10	1668	c.1350T>C	c.(1348-1350)caT>caC	p.H450H	USP19_ENST00000417901.1_Silent_p.H553H|USP19_ENST00000398892.3_Silent_p.H490H|USP19_ENST00000398898.2_Silent_p.H490H|USP19_ENST00000434032.2_Silent_p.H551H|USP19_ENST00000453664.1_Silent_p.H541H|USP19_ENST00000398896.1_Silent_p.H258H|USP19_ENST00000488993.1_5'Flank	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	450					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGGGGTTACATGCTCCATGG	0.582																																																0													83	88	86					3																	49153190		2101	4221	6322	SO:0001819	synonymous_variant	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1350T>C	3.37:g.49153190A>G			A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	CCDS43090.1																																																																																				0.582	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		G	49153190	A	G	49153190	2	3	183	1	0	0	0	0	0	0	0	1	17055	214	8	3		3	USP19	3	49153190	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1475677	49153190	148869240	137	10834											
CCDC36	339834	broad.mit.edu	37	3	49293670	49293670	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:49293670A>C	ENST00000438782.1	+	8	976	c.740A>C	c.(739-741)cAg>cCg	p.Q247P	CCDC36_ENST00000296449.5_Missense_Mutation_p.Q247P|CCDC36_ENST00000452691.2_Missense_Mutation_p.Q247P			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	247										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAGCTAGGCCAGCTGAATGTG	0.507																																																0													88	85	86					3																	49293670		2203	4300	6503	SO:0001583	missense	339834			AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"cancer/testis antigen 74"						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.740A>C	3.37:g.49293670A>C	ENSP00000391788:p.Gln247Pro		C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515639	0.64634	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.15603	2.41;2.41;2.41	5.31	4.16	0.48862	.	0.401133	0.21892	N	0.067566	T	0.26774	0.0655	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.01966	-1.1238	10	0.66056	D	0.02	-5.6576	7.7737	0.29023	0.9078:0.0:0.0922:0.0	.	247	Q8IYA8	CCD36_HUMAN	P	247;247;247;227	ENSP00000296449:Q247P;ENSP00000391788:Q247P;ENSP00000407837:Q247P	ENSP00000296449:Q247P	Q	+	2	0	CCDC36	49268674	0.994000	0.37717	0.870000	0.34147	0.932000	0.56968	2.082000	0.41605	1.049000	0.40321	0.482000	0.46254	CAG		0.507	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		C	49293670	A	C	49293670	3	2	183	1	0	0	0	0	1	0	0	0	2810	188	7	5	766	5	CCDC36	3	49293670	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	140480	49293670	148728760	138	10835											
MST1	327	broad.mit.edu	37	3	49721844	49721844	+	IGR	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:49721844A>G	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.V640A	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTTGGAGATGACATTCAGCAA	0.582																																																0													67	69	68					3																	49721844		2202	4300	6502	SO:0001628	intergenic_variant	4485			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721844A>G			Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583425	0.86748	.	.	ENSG00000173531	ENST00000449682	D	0.90004	-2.6	5.46	5.46	0.80206	.	0.000000	0.38272	N	0.001754	D	0.93229	0.7843	M	0.64080	1.96	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	D	0.93962	0.7241	10	0.87932	D	0	.	15.5147	0.75815	1.0:0.0:0.0:0.0	.	640	G3XAK1	.	A	640	ENSP00000414287:V640A	ENSP00000414287:V640A	V	-	2	0	MST1	49696848	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	8.397000	0.90193	2.063000	0.61619	0.459000	0.35465	GTC		0.582	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			G	49721844	A	G	49721844	1	3	183	0	1	0	0	0	0	0	0	0	9892	275	10	3		3	MST1	3	49721844	IGR	SNP	A	TCGA-B0-5098-01A-01D-1421-08	428174	49721844	148300586	139	10836											
RBM6	10180	broad.mit.edu	37	3	50005783	50005783	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:50005783A>T	ENST00000266022.4	+	3	1184	c.925A>T	c.(925-927)Aat>Tat	p.N309Y	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.N177Y	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	309					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTCTGGTATGAATGTGAACAG	0.408																																																0													67	65	66					3																	50005783		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.925A>T	3.37:g.50005783A>T	ENSP00000266022:p.Asn309Tyr		O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694858	0.48202	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.32515	1.45;1.46	6.04	6.04	0.98038	.	0.786363	0.12308	N	0.480499	T	0.28928	0.0718	L	0.27053	0.805	0.80722	D	1	P	0.35033	0.481	B	0.39617	0.305	T	0.05835	-1.0861	9	.	.	.	-8.693	15.7575	0.78046	1.0:0.0:0.0:0.0	.	309	P78332	RBM6_HUMAN	Y	309;177	ENSP00000266022:N309Y;ENSP00000396466:N177Y	.	N	+	1	0	RBM6	49980787	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.465000	0.53064	2.317000	0.78254	0.459000	0.35465	AAT		0.408	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		T	50005783	A	T	50005783	3	4	183	1	0	0	0	0	1	0	0	0	13150	246	9	5	931	5	RBM6	3	50005783	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	283939	50005783	148016647	140	10837											
SUCLG2	8801	broad.mit.edu	37	3	67546326	67546326	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:67546326T>C	ENST00000307227.5	-	9	985	c.958A>G	c.(958-960)Att>Gtt	p.I320V	SUCLG2_ENST00000492795.1_Missense_Mutation_p.I320V|SUCLG2_ENST00000493112.1_Missense_Mutation_p.I320V	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	320					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTAAGGAAAATGATATCACAA	0.443																																																0													84	78	80					3																	67546326		1931	4144	6075	SO:0001583	missense	8801			AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.958A>G	3.37:g.67546326T>C	ENSP00000307432:p.Ile320Val		C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	ENST00000307227.5	37	CCDS43104.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174427	0.57692	.	.	ENSG00000172340	ENST00000493112;ENST00000307227;ENST00000492795	T;T;T	0.75589	-0.95;-0.95;-0.1	5.64	5.64	0.86602	Succinyl-CoA synthetase-like (2);Succinyl-CoA synthetase, beta subunit, conserved site (1);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	L	0.55213	1.73	0.80722	D	1	B	0.30870	0.298	B	0.40901	0.343	T	0.77400	-0.2602	10	0.66056	D	0.02	.	15.8579	0.78994	0.0:0.0:0.0:1.0	.	320	Q96I99	SUCB2_HUMAN	V	320	ENSP00000419325:I320V;ENSP00000307432:I320V;ENSP00000417589:I320V	ENSP00000307432:I320V	I	-	1	0	SUCLG2	67629016	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.698000	0.84413	2.131000	0.65755	0.460000	0.39030	ATT		0.443	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351993.1	NM_003848		C	67546326	T	C	67546326	3	2	183	1	0	0	0	0	1	0	0	0	15370	1464	51	3	496	3	SUCLG2	3	67546326	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	17540543	67546326	130476104	141	10838											
C3orf64	285203	broad.mit.edu	37	3	69047200	69047200	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:69047200A>C	ENST00000383701.3	-	10	1535	c.793T>G	c.(793-795)Tca>Gca	p.S265A	EOGT_ENST00000540764.1_Missense_Mutation_p.S164A|EOGT_ENST00000295571.5_Missense_Mutation_p.S265A|EOGT_ENST00000540955.1_Intron	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	265					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										GTACTGAATGAGTTATTAACG	0.388																																																0													162	142	149					3																	69047200		2203	4300	6503	SO:0001583	missense	285203			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.793T>G	3.37:g.69047200A>C	ENSP00000373206:p.Ser265Ala		A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37		.	.	.	.	.	.	.	.	.	.	A	17.38	3.374289	0.61735	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	T;T;T	0.09445	2.98;2.98;2.98	5.41	5.41	0.78517	.	0.120979	0.64402	D	0.000019	T	0.33962	0.0881	.	.	.	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.77557	0.925;0.99	T	0.06463	-1.0825	9	0.66056	D	0.02	.	15.7409	0.77894	1.0:0.0:0.0:0.0	.	265;265	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	A	265;265;164	ENSP00000373206:S265A;ENSP00000295571:S265A;ENSP00000443780:S164A	ENSP00000295571:S265A	S	-	1	0	C3orf64	69129890	1.000000	0.71417	0.470000	0.27216	0.080000	0.17528	9.060000	0.93907	2.188000	0.69820	0.482000	0.46254	TCA		0.388	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		C	69047200	A	C	69047200	3	2	183	1	0	0	0	0	1	0	0	0	2242	304	11	5	562	5	C3orf64	3	69047200	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1500874	69047200	128975230	142	10839											
TMF1	7110	broad.mit.edu	37	3	69088741	69088741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:69088741delT	ENST00000398559.2	-	6	2004	c.1788delA	c.(1786-1788)aaafs	p.K596fs	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Frame_Shift_Del_p.K599fs|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	596					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GCTCTTTAACTTTTTTGTTCA	0.328																																																0													175	159	164					3																	69088741		1836	4096	5932	SO:0001589	frameshift_variant	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1788delA	3.37:g.69088741delT	ENSP00000381567:p.Lys596fs		B7ZLJ2|Q17R87|Q59GK0	Frame_Shift_Del	DEL	ENST00000398559.2	37	CCDS43105.1																																																																																				0.328	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		-	69088741	T	-	69088741	7	5	183	1	0	1	0	1	0	0	0	0	16233	1606	56	0	1541	0	TMF1	3	69088741	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	41541	69088741	128933689	143	10840											
ROBO2	6092	broad.mit.edu	37	3	77542422	77542422	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:77542422T>A	ENST00000461745.1	+	5	1595	c.695T>A	c.(694-696)aTt>aAt	p.I232N	ROBO2_ENST00000487694.3_Missense_Mutation_p.I248N|ROBO2_ENST00000332191.8_Missense_Mutation_p.I232N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	232	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGAGGCCAATTAACCAGGTG	0.378																																																0													127	114	118					3																	77542422		1854	4109	5963	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.695T>A	3.37:g.77542422T>A	ENSP00000417164:p.Ile232Asn		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.036683	0.75617	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.66099	-0.19;-0.19;-0.19	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	U	0.000454	T	0.56031	0.1958	N	0.04508	-0.205	0.36368	D	0.861141	D;D;D	0.62365	0.966;0.991;0.966	P;P;P	0.61477	0.889;0.876;0.763	T	0.60414	-0.7268	9	0.16896	T	0.51	.	16.2851	0.82714	0.0:0.0:0.0:1.0	.	248;232;232	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	N	248;248;248;232;232	ENSP00000417335:I248N;ENSP00000417164:I232N;ENSP00000327536:I232N	ENSP00000327536:I232N	I	+	2	0	ROBO2	77625112	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.982000	0.88131	2.252000	0.74401	0.402000	0.26972	ATT		0.378	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		A	77542422	T	A	77542422	3	1	183	1	0	0	0	0	1	0	0	0	13520	1493	52	5	715	5	ROBO2	3	77542422	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	8453681	77542422	120480008	144	10841											
OR5K4	403278	broad.mit.edu	37	3	98072884	98072884	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:98072884C>A	ENST00000354924.2	+	1	187	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	63						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)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTACATCTTTCTGGGCAACCT	0.453																																																0													301	296	297					3																	98072884		2203	4300	6503	SO:0001583	missense	403278				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.187C>A	3.37:g.98072884C>A	ENSP00000347003:p.Leu63Met			Missense_Mutation	SNP	ENST00000354924.2	37	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809686	0.50421	.	.	ENSG00000196098	ENST00000354924	T	0.02103	4.45	4.63	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27311	U	0.019958	T	0.16128	0.0388	H	0.97611	4.04	0.28462	N	0.915816	D	0.76494	0.999	D	0.73380	0.98	T	0.15867	-1.0422	10	0.87932	D	0	-19.8248	4.0374	0.09735	0.189:0.6171:0.0:0.1939	.	63	A6NMS3	OR5K4_HUMAN	M	63	ENSP00000347003:L63M	ENSP00000347003:L63M	L	+	1	2	OR5K4	99555574	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.281000	0.08456	0.638000	0.30545	0.505000	0.49811	CTG		0.453	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			A	98072884	C	A	98072884	3	1	183	1	0	0	0	0	1	0	0	0	11171	912	32	4	189	4	OR5K4	3	98072884	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	20530462	98072884	99949546	145	10842											
TBC1D23	55773	broad.mit.edu	37	3	100042461	100042461	+	Silent	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:100042461T>A	ENST00000394144.4	+	19	2056	c.2049T>A	c.(2047-2049)acT>acA	p.T683T	TBC1D23_ENST00000475134.1_Silent_p.T546T|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.T668T	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	683					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						GGGATGCAACTAAAGCCATAA	0.264																																																0													16	18	17					3																	100042461		2187	4288	6475	SO:0001819	synonymous_variant	55773			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.2049T>A	3.37:g.100042461T>A			B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	37	CCDS56265.1																																																																																				0.264	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		A	100042461	T	A	100042461	2	1	183	1	0	0	0	0	0	0	0	1	15618	1509	53	5		5	TBC1D23	3	100042461	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1969577	100042461	97979969	146	10843											
CCDC54	84692	broad.mit.edu	37	3	107096890	107096890	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:107096890A>G	ENST00000261058.1	+	1	703	c.456A>G	c.(454-456)atA>atG	p.I152M		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	152										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GCTCCACGATACATTGTCTAG	0.403																																																0													67	59	61					3																	107096890		2203	4300	6503	SO:0001583	missense	84692			AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.456A>G	3.37:g.107096890A>G	ENSP00000261058:p.Ile152Met		Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329509	0.24167	.	.	ENSG00000138483	ENST00000261058	T	0.51071	0.72	5.23	-2.6	0.06190	.	0.709419	0.12721	N	0.444709	T	0.42359	0.1199	L	0.54323	1.7	0.09310	N	1	P	0.47677	0.899	P	0.48840	0.592	T	0.35724	-0.9777	10	0.62326	D	0.03	-4.9006	3.2297	0.06744	0.365:0.417:0.083:0.1351	.	152	Q8NEL0	CCD54_HUMAN	M	152	ENSP00000261058:I152M	ENSP00000261058:I152M	I	+	3	3	CCDC54	108579580	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.177000	0.09796	-0.030000	0.13804	0.377000	0.23210	ATA		0.403	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		G	107096890	A	G	107096890	3	3	183	1	0	0	0	0	1	0	0	0	2826	381	14	3	458	3	CCDC54	3	107096890	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	7054429	107096890	90925540	147	10844											
MORC1	27136	broad.mit.edu	37	3	108836867	108836867	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:108836867G>A	ENST00000483760.1	-	1	83	c.40C>T	c.(40-42)Cgt>Tgt	p.R14C	MORC1_ENST00000232603.5_Missense_Mutation_p.R14C					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAATCCAGACGCAGCTGGGCC	0.657																																																0													32	25	27					3																	108836867		2203	4300	6503	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.40C>T	3.37:g.108836867G>A	ENSP00000417282:p.Arg14Cys			Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	G	10.56	1.385337	0.25031	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05580	3.42;3.43	4.86	3.07	0.35406	.	0.563324	0.16155	N	0.227065	T	0.01905	0.0060	N	0.01576	-0.805	0.28832	N	0.897114	P;B	0.40931	0.733;0.0	B;B	0.31547	0.132;0.0	T	0.33752	-0.9856	10	0.54805	T	0.06	-2.338	6.1636	0.20378	0.0948:0.0:0.7207:0.1846	.	14;14	E7ERX1;Q86VD1	.;MORC1_HUMAN	C	14	ENSP00000232603:R14C;ENSP00000417282:R14C	ENSP00000232603:R14C	R	-	1	0	MORC1	110319557	0.903000	0.30736	0.883000	0.34634	0.279000	0.26890	1.778000	0.38614	0.769000	0.33313	0.561000	0.74099	CGT		0.657	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			A	108836867	G	A	108836867	3	1	183	1	0	0	0	0	1	0	0	0	9703	1087	38	1	3026	1	MORC1	3	108836867	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1739977	108836867	89185563	148	10845											
PHLDB2	90102	broad.mit.edu	37	3	111685552	111685552	+	Splice_Site	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:111685552T>G	ENST00000431670.2	+	14	3579		c.e14+2		PHLDB2_ENST00000412622.1_Splice_Site|PHLDB2_ENST00000393925.3_Splice_Site|PHLDB2_ENST00000393923.3_Splice_Site|PHLDB2_ENST00000481953.1_Splice_Site|PHLDB2_ENST00000495180.1_Splice_Site	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2							cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAATCCAGGGTAAGCTTCATA	0.493																																																0													61	70	67					3																	111685552		2202	4300	6502	SO:0001630	splice_region_variant	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3168+2T>G	3.37:g.111685552T>G			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Splice_Site	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747503	0.69533	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1087	0.72338	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHLDB2	113168242	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	7.615000	0.83006	2.273000	0.75805	0.482000	0.46254	.		0.493	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	Intron	G	111685552	T	G	111685552	5	3	183	1	0	0	0	0	0	0	1	0	11854	1652	57	5	3305	5	PHLDB2	3	111685552	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2848685	111685552	86336878	149	10846											
TAGLN3	29114	broad.mit.edu	37	3	111719762	111719762	+	Silent	SNP	C	C	A	rs369661291		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:111719762C>A	ENST00000393917.2	+	3	876	c.324C>A	c.(322-324)acC>acA	p.T108T	TAGLN3_ENST00000273368.4_Silent_p.T108T|TAGLN3_ENST00000486460.1_Silent_p.T24T|TAGLN3_ENST00000455401.2_Silent_p.T108T|TAGLN3_ENST00000478951.1_Silent_p.T108T	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	108	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						TCAGAACCACCGACATCTTTC	0.478																																																0													138	142	140					3																	111719762		2203	4300	6503	SO:0001819	synonymous_variant	29114			AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.324C>A	3.37:g.111719762C>A			D3DN64|Q96A74	Silent	SNP	ENST00000393917.2	37	CCDS33816.1																																																																																				0.478	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		A	111719762	C	A	111719762	2	1	183	1	0	0	0	0	0	0	0	1	15545	639	23	4		4	TAGLN3	3	111719762	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	34210	111719762	86302668	150	10847											
GPR156	165829	broad.mit.edu	37	3	119885981	119885981	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:119885981A>G	ENST00000464295.1	-	10	2788	c.2343T>C	c.(2341-2343)acT>acC	p.T781T	GPR156_ENST00000461057.1_Silent_p.T777T|GPR156_ENST00000315843.3_Silent_p.T781T			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	781						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GCTCAGGGTCAGTGTCTGATG	0.557																																																0													138	156	150					3																	119885981		2203	4300	6503	SO:0001819	synonymous_variant	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2343T>C	3.37:g.119885981A>G			B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	37	CCDS2997.1																																																																																				0.557	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		G	119885981	A	G	119885981	2	3	183	1	0	0	0	0	0	0	0	1	6663	175	7	3		3	GPR156	3	119885981	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	8166219	119885981	78136449	151	10848											
KPNA1	3836	broad.mit.edu	37	3	122170886	122170886	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:122170886G>A	ENST00000344337.6	-	7	766	c.590C>T	c.(589-591)gCt>gTt	p.A197V	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	197	NLS binding site (major). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ACTATCTCCAGCAATGTTGCC	0.378																																					Melanoma(12;340 801 11196 19797)											0													177	180	179					3																	122170886		2203	4300	6503	SO:0001583	missense	3836			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.590C>T	3.37:g.122170886G>A	ENSP00000343701:p.Ala197Val		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113463	0.94339	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.44	4.44	0.53790	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.92275	0.5828	10	0.87932	D	0	-8.346	16.2297	0.82323	0.0:0.0:1.0:0.0	.	197	P52294	IMA1_HUMAN	V	197;197;197;153	ENSP00000343701:A197V;ENSP00000419890:A197V;ENSP00000417166:A197V;ENSP00000417319:A153V	ENSP00000343701:A197V	A	-	2	0	KPNA1	123653576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.259000	0.95561	2.301000	0.77427	0.585000	0.79938	GCT		0.378	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		A	122170886	G	A	122170886	3	1	183	1	0	0	0	0	1	0	0	0	8431	971	34	2	1058	2	KPNA1	3	122170886	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2284905	122170886	75851544	152	10849											
ADCY5	111	broad.mit.edu	37	3	123019001	123019001	+	Missense_Mutation	SNP	C	C	T	rs200892634	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:123019001C>T	ENST00000462833.1	-	15	4078	c.2866G>A	c.(2866-2868)Gac>Aac	p.D956N	ADCY5_ENST00000309879.5_Missense_Mutation_p.D606N|ADCY5_ENST00000491190.1_Missense_Mutation_p.D589N	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	956					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCGGCGTTGTCGAAGAGCGTG	0.617													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		20876	0.0		0.0	False		,,,				2504	0.0															0								C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	146	112	123		1816,2866	3.7	1	3		123	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	ADCY5	NM_001199642.1,NM_183357.2	23,23	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	606/912,956/1262	123019001	3,13003	2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2866G>A	3.37:g.123019001C>T	ENSP00000419361:p.Asp956Asn		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.33	3.599643	0.66332	0.0	3.49E-4	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;D;D	0.82255	-1.15;-1.59;-1.56	4.55	3.68	0.42216	.	0.000000	0.64402	D	0.000001	D	0.88629	0.6488	M	0.84326	2.69	0.58432	D	0.99999	D;D	0.69078	0.997;0.996	P;P	0.57960	0.801;0.83	D	0.87807	0.2629	10	0.34782	T	0.22	.	12.6615	0.56815	0.0:0.9198:0.0:0.0802	.	956;589	O95622;B3KWA8	ADCY5_HUMAN;.	N	956;589;606	ENSP00000419361:D956N;ENSP00000418537:D589N;ENSP00000308685:D606N	ENSP00000308685:D606N	D	-	1	0	ADCY5	124501691	1.000000	0.71417	0.999000	0.59377	0.455000	0.32408	5.890000	0.69774	1.138000	0.42230	-0.141000	0.14075	GAC		0.617	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		T	123019001	C	T	123019001	3	4	183	1	0	0	0	0	1	0	0	0	297	884	31	1	947	1	ADCY5	3	123019001	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	848115	123019001	75003429	153	10850											
ADCY5	111	broad.mit.edu	37	3	123044258	123044258	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:123044258T>C	ENST00000462833.1	-	8	3211	c.1999A>G	c.(1999-2001)Atc>Gtc	p.I667V	ADCY5_ENST00000309879.5_Missense_Mutation_p.I317V|ADCY5_ENST00000491190.1_Missense_Mutation_p.I300V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	667					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TTGTGCCCGATGGAGTTGGTT	0.587																																																0													170	173	172					3																	123044258		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1999A>G	3.37:g.123044258T>C	ENSP00000419361:p.Ile667Val		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356611	0.24598	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.80824	-0.98;-1.42;-1.41;-1.28	5.23	5.23	0.72850	.	0.071286	0.56097	D	0.000024	T	0.54175	0.1842	N	0.01109	-1.01	0.39086	D	0.961001	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.56920	-0.7899	10	0.13853	T	0.58	.	15.2943	0.73891	0.0:0.0:0.0:1.0	.	667;300	O95622;B3KWA8	ADCY5_HUMAN;.	V	667;300;317;226	ENSP00000419361:I667V;ENSP00000418537:I300V;ENSP00000308685:I317V;ENSP00000420082:I226V	ENSP00000308685:I317V	I	-	1	0	ADCY5	124526948	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	5.659000	0.68010	2.202000	0.70862	0.533000	0.62120	ATC		0.587	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		C	123044258	T	C	123044258	3	2	183	1	0	0	0	0	1	0	0	0	297	1464	51	3	1842	3	ADCY5	3	123044258	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	25257	123044258	74978172	154	10851											
SLC12A8	84561	broad.mit.edu	37	3	124930170	124930170	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:124930170C>T	ENST00000393469.4	-	1	73	c.24G>A	c.(22-24)caG>caA	p.Q8Q	SLC12A8_ENST00000469902.1_Silent_p.Q8Q|SLC12A8_ENST00000423114.2_Intron|SLC12A8_ENST00000314584.7_5'UTR	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	8					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GGAAGAGCTCCTGCACCTGGG	0.602																																																0													144	148	147					3																	124930170		2083	4206	6289	SO:0001819	synonymous_variant	84561				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.24G>A	3.37:g.124930170C>T			C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	ENST00000393469.4	37	CCDS43143.1																																																																																				0.602	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		T	124930170	C	T	124930170	2	4	183	1	0	0	0	0	0	0	0	1	14395	680	24	2		2	SLC12A8	3	124930170	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1885912	124930170	73092260	155	10852											
PLXNA1	5361	broad.mit.edu	37	3	126708217	126708217	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:126708217C>T	ENST00000393409.2	+	1	781	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	PLXNA1_ENST00000251772.4_Silent_p.L238L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	261	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTACCTCACGCTGCAGCTAGA	0.562																																																0													90	85	86					3																	126708217		2203	4300	6503	SO:0001819	synonymous_variant	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.781C>T	3.37:g.126708217C>T				Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																				0.562	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126708217	C	T	126708217	2	4	183	1	0	0	0	0	0	0	0	1	12121	796	28	2		2	PLXNA1	3	126708217	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1778047	126708217	71314213	156	10853											
ISY1	57461	broad.mit.edu	37	3	128864606	128864606	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:128864606C>T	ENST00000393295.3	-	6	615	c.298G>A	c.(298-300)Gga>Aga	p.G100R	ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000393292.3_Missense_Mutation_p.G100R|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.G100R|ISY1_ENST00000273541.8_Missense_Mutation_p.G100R	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	100					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						GTACTCACTCCATAATCAGGA	0.488																																																0													101	103	103					3																	128864606		1974	4171	6145	SO:0001583	missense	100534599				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 33"	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.298G>A	3.37:g.128864606C>T	ENSP00000376973:p.Gly100Arg		Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	C	5.238	0.229454	0.09916	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.27402	1.67	5.31	5.31	0.75309	.	0.329198	0.35585	N	0.003115	T	0.12050	0.0293	N	0.01277	-0.915	0.39098	D	0.961234	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.20538	-1.0272	10	0.11794	T	0.64	.	16.4891	0.84195	0.0:1.0:0.0:0.0	.	100;100;100	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	R	100;100;100;38;100	ENSP00000273541:G100R	ENSP00000273541:G100R	G	-	1	0	ISY1	130347296	0.999000	0.42202	0.904000	0.35570	0.393000	0.30537	2.713000	0.47194	2.482000	0.83794	0.591000	0.81541	GGA		0.488	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		T	128864606	C	T	128864606	3	4	183	1	0	0	0	0	1	0	0	0	7868	603	21	2	583	2	ISY1	3	128864606	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2156389	128864606	69157824	157	10854											
TMCC1	23023	broad.mit.edu	37	3	129546961	129546961	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:129546961G>A	ENST00000393238.3	-	3	601	c.261C>T	c.(259-261)aaC>aaT	p.N87N	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	87						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGCACATGCGTTCTGGCTTT	0.532																																																0													90	75	80					3																	129546961		2203	4300	6503	SO:0001819	synonymous_variant	23023			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.261C>T	3.37:g.129546961G>A			A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	CCDS33855.1																																																																																				0.532	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		A	129546961	G	A	129546961	2	1	183	1	0	0	0	0	0	0	0	1	15997	1136	40	1		1	TMCC1	3	129546961	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	682355	129546961	68475469	158	10855											
AMOTL2	51421	broad.mit.edu	37	3	134086562	134086562	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:134086562delG	ENST00000422605.2	-	3	984	c.818delC	c.(817-819)cctfs	p.P275fs	AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000249883.5_Frame_Shift_Del_p.P275fs|AMOTL2_ENST00000514516.1_Frame_Shift_Del_p.P333fs|AMOTL2_ENST00000513145.1_Frame_Shift_Del_p.P275fs			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	275					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						ATGTGGGGGAGGGGGGTGCTC	0.647																																																0													26	28	27					3																	134086562		2203	4300	6503	SO:0001589	frameshift_variant	51421			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.818delC	3.37:g.134086562delG	ENSP00000409999:p.Pro275fs		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Frame_Shift_Del	DEL	ENST00000422605.2	37																																																																																					0.647	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		-	134086562	G	-	134086562	7	5	183	1	0	1	0	1	0	0	0	0	584	1000	35	0	1556	0	AMOTL2	3	134086562	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	4539601	134086562	63935868	159	10856											
ESYT3	83850	broad.mit.edu	37	3	138187722	138187725	+	Splice_Site	DEL	GAGT	GAGT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:138187722_138187725delGAGT	ENST00000389567.4	+	14	1619_1620	c.1433_1434delGAGT	c.(1432-1434)aga>a	p.R478fs		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	478	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AGGTTTGCCAGAGTGAGTGAGTAT	0.495																																																0																																										SO:0001630	splice_region_variant	83850			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1434+1GAGT>-	3.37:g.138187730_138187733delGAGT			A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Splice_Site	DEL	ENST00000389567.4	37	CCDS3101.2																																																																																				0.495	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	Frame_Shift_Del	-	138187725	GAGT	-	138187722	8	5	183	1	0	1	0	1	0	0	1	0	5268	956	33	0	1487	0	ESYT3	3	138187722	Splice_Site	DEL	GAGT	TCGA-B0-5098-01A-01D-1421-08	4101160	138187722	59834708	160	10857											
MRPS22	56945	broad.mit.edu	37	3	139062900	139062900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:139062900G>A	ENST00000495075.1	+	3	464	c.32G>A	c.(31-33)tGg>tAg	p.W11*	MRPS22_ENST00000310776.4_Nonsense_Mutation_p.W11*|MRPS22_ENST00000465056.1_Nonsense_Mutation_p.W11*|MRPS22_ENST00000478464.1_5'Flank			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	11						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GTATTGCTGTGGAGCCTCTTG	0.592																																																0													54	54	54					3																	139062900		2203	4300	6503	SO:0001587	stop_gained	56945			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"Mitochondrial ribosomal proteins / small subunits"	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.32G>A	3.37:g.139062900G>A	ENSP00000418008:p.Trp11*		Q9H3I1	Nonsense_Mutation	SNP	ENST00000495075.1	37	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397357	0.96009	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000465373	.	.	.	4.01	0.917	0.19380	.	0.369990	0.21989	N	0.066189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.985	4.3433	0.11120	0.1118:0.0:0.4892:0.399	.	.	.	.	X	11;11;11;7	.	ENSP00000310785:W11X	W	+	2	0	MRPS22	140545590	0.144000	0.22641	0.000000	0.03702	0.002000	0.02628	2.620000	0.46410	0.459000	0.27016	0.591000	0.81541	TGG		0.592	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		A	139062900	G	A	139062900	4	1	183	1	0	0	0	0	0	1	0	0	9835	1357	47	2	34	2	MRPS22	3	139062900	Nonsense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	875178	139062900	58959530	161	10858											
PLSCR4	57088	broad.mit.edu	37	3	145917688	145917688	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:145917688G>A	ENST00000354952.2	-	6	776	c.536C>T	c.(535-537)aCt>aTt	p.T179I	PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000446574.2_Missense_Mutation_p.T179I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.T179I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	179					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CATACAATCAGTGACCCGGAG	0.493																																																0													102	97	99					3																	145917688		2203	4300	6503	SO:0001583	missense	57088			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.536C>T	3.37:g.145917688G>A	ENSP00000347038:p.Thr179Ile		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384448	0.25031	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	4.87	3.09	0.35607	.	0.409827	0.23844	N	0.044018	T	0.20170	0.0485	L	0.41415	1.275	0.80722	D	1	P	0.52842	0.956	P	0.51582	0.674	T	0.09509	-1.0671	10	0.12766	T	0.61	.	6.6099	0.22745	0.3522:0.0:0.6478:0.0	.	179	Q9NRQ2	PLS4_HUMAN	I	179	ENSP00000347038:T179I;ENSP00000399315:T179I;ENSP00000419040:T179I;ENSP00000417896:T179I;ENSP00000418173:T179I	ENSP00000347038:T179I	T	-	2	0	PLSCR4	147400378	0.002000	0.14202	0.998000	0.56505	0.469000	0.32828	0.141000	0.16076	0.775000	0.33450	-0.136000	0.14681	ACT		0.493	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		A	145917688	G	A	145917688	3	1	183	1	0	0	0	0	1	0	0	0	12114	1029	36	2	469	2	PLSCR4	3	145917688	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	6854788	145917688	52104742	162	10859											
MED12L	116931	broad.mit.edu	37	3	150908555	150908555	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:150908555T>C	ENST00000474524.1	+	13	1843	c.1805T>C	c.(1804-1806)cTc>cCc	p.L602P	RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Missense_Mutation_p.L462P|MED12L_ENST00000309237.4_Missense_Mutation_p.L602P|MED12L_ENST00000422248.2_Missense_Mutation_p.L602P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	602						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGTGCTGCTCTTCTGCGAG	0.468																																																0													120	103	109					3																	150908555		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1805T>C	3.37:g.150908555T>C	ENSP00000417235:p.Leu602Pro		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.481173	0.84747	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.48	5.48	0.80851	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.998;0.996	T	0.82102	-0.0623	10	0.87932	D	0	-17.673	15.5257	0.75901	0.0:0.0:0.0:1.0	.	462;602;602;602	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	P	602;602;602;462	ENSP00000403308:L602P;ENSP00000310760:L602P;ENSP00000417235:L602P;ENSP00000273432:L462P	ENSP00000273432:L462P	L	+	2	0	MED12L	152391245	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.232000	0.78116	2.207000	0.71202	0.482000	0.46254	CTC		0.468	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		C	150908555	T	C	150908555	3	2	183	1	0	0	0	0	1	0	0	0	9431	1551	54	3	1855	3	MED12L	3	150908555	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	4990867	150908555	47113875	163	10860											
IGSF10	285313	broad.mit.edu	37	3	151156202	151156202	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:151156202T>C	ENST00000282466.3	-	6	6146	c.6147A>G	c.(6145-6147)caA>caG	p.Q2049Q	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2049	Ig-like C2-type 7.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGGAGCACTTGCTTTCTAA	0.443																																																0													133	127	129					3																	151156202		2203	4300	6503	SO:0001819	synonymous_variant	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6147A>G	3.37:g.151156202T>C			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																				0.443	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		C	151156202	T	C	151156202	2	2	183	1	0	0	0	0	0	0	0	1	7599	1606	56	3		3	IGSF10	3	151156202	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	247647	151156202	46866228	164	10861											
GPR149	344758	broad.mit.edu	37	3	154146817	154146817	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:154146817G>A	ENST00000389740.2	-	1	687	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	196					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AAGCGTACACGATAGAGAGGA	0.642																																																0													48	54	52					3																	154146817		2033	4182	6215	SO:0001819	synonymous_variant	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.588C>T	3.37:g.154146817G>A				Silent	SNP	ENST00000389740.2	37	CCDS43162.1																																																																																				0.642	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		A	154146817	G	A	154146817	2	1	183	1	0	0	0	0	0	0	0	1	6656	1048	37	1		1	GPR149	3	154146817	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2990615	154146817	43875613	165	10862											
SERPINI1	5274	broad.mit.edu	37	3	167508322	167508322	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:167508322A>G	ENST00000295777.5	+	3	844	c.413A>G	c.(412-414)cAt>cGt	p.H138R	SERPINI1_ENST00000446050.2_Missense_Mutation_p.H138R	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	138					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GCAGTAAATCATGTGGACTTC	0.363																																																0													124	124	124					3																	167508322		2203	4300	6503	SO:0001583	missense	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.413A>G	3.37:g.167508322A>G	ENSP00000295777:p.His138Arg		A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	A	9.816	1.184581	0.21870	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.51	3.12	0.35913	Serpin domain (3);	0.259916	0.42682	N	0.000671	T	0.62962	0.2471	N	0.04787	-0.16	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48990	-0.8985	10	0.19147	T	0.46	.	9.8366	0.40973	0.8607:0.0:0.1393:0.0	.	138	Q99574	NEUS_HUMAN	R	138	ENSP00000420133:H138R;ENSP00000397373:H138R;ENSP00000295777:H138R;ENSP00000420561:H138R	ENSP00000295777:H138R	H	+	2	0	SERPINI1	168991016	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.073000	0.50057	0.391000	0.25143	0.455000	0.32223	CAT		0.363	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			G	167508322	A	G	167508322	3	3	183	1	0	0	0	0	1	0	0	0	14124	217	8	3	419	3	SERPINI1	3	167508322	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	13361505	167508322	30514108	166	10863											
USP13	8975	broad.mit.edu	37	3	179478997	179478997	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:179478997C>T	ENST00000263966.3	+	17	2517	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	USP13_ENST00000496897.1_Silent_p.G617G	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	682	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.|USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GAAATATGGGCGCCGAGGTGG	0.522																																																0													135	122	126					3																	179478997		2203	4300	6503	SO:0001819	synonymous_variant	8975			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2046C>T	3.37:g.179478997C>T			A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	CCDS3235.1																																																																																				0.522	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			T	179478997	C	T	179478997	2	4	183	1	0	0	0	0	0	0	0	1	17049	755	27	1		1	USP13	3	179478997	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	11970675	179478997	18543433	167	10864											
FAM131A	131408	broad.mit.edu	37	3	184062584	184062584	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:184062584C>A	ENST00000310585.4	+	3	2198	c.834C>A	c.(832-834)ccC>ccA	p.P278P	FAM131A_ENST00000450976.1_Silent_p.P224P|FAM131A_ENST00000418281.1_Silent_p.P186P|FAM131A_ENST00000340957.5_Silent_p.P224P|FAM131A_ENST00000453072.1_Silent_p.P224P|FAM131A_ENST00000383847.2_Silent_p.P309P|EIF2B5_ENST00000444495.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	278						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAACTCGCCCCTCACAGAGT	0.672																																																0													40	47	45					3																	184062584		2203	4297	6500	SO:0001819	synonymous_variant	131408			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 40"	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.834C>A	3.37:g.184062584C>A			D3DNT6|G5E9B1|Q8TA84	Silent	SNP	ENST00000310585.4	37																																																																																					0.672	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		A	184062584	C	A	184062584	2	1	183	1	0	0	0	0	0	0	0	1	5441	610	22	4		4	FAM131A	3	184062584	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	4583587	184062584	13959846	168	10865											
LPP	4026	broad.mit.edu	37	3	188590487	188590487	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:188590487A>G	ENST00000312675.4	+	10	1892	c.1646A>G	c.(1645-1647)cAg>cGg	p.Q549R	LPP_ENST00000543006.1_Missense_Mutation_p.Q549R	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	549	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCCCCGGGCCAGGAGGAGACT	0.547			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	0													139	119	126					3																	188590487		2203	4300	6503	SO:0001583	missense	4026			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1646A>G	3.37:g.188590487A>G	ENSP00000318089:p.Gln549Arg		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250274	0.80024	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	T;T	0.56611	0.45;0.45	5.51	5.51	0.81932	Zinc finger, LIM-type (4);	0.050693	0.85682	D	0.000000	T	0.49898	0.1584	L	0.33189	0.99	0.80722	D	1	P;B	0.35468	0.503;0.41	B;B	0.44224	0.175;0.444	T	0.43829	-0.9367	10	0.25106	T	0.35	.	14.8155	0.70031	1.0:0.0:0.0:0.0	.	402;549	B7Z8W0;Q93052	.;LPP_HUMAN	R	549	ENSP00000318089:Q549R;ENSP00000438891:Q549R	ENSP00000318089:Q549R	Q	+	2	0	LPP	190073181	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	9.339000	0.96797	2.105000	0.64084	0.533000	0.62120	CAG		0.547	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		G	188590487	A	G	188590487	3	3	183	1	0	0	0	0	1	0	0	0	8925	188	7	3	1676	3	LPP	3	188590487	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	4527903	188590487	9431943	169	10866											
ATP13A3	79572	broad.mit.edu	37	3	194151926	194151926	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:194151926G>T	ENST00000439040.1	-	23	3242	c.2451C>A	c.(2449-2451)agC>agA	p.S817R	ATP13A3_ENST00000256031.4_Missense_Mutation_p.S817R			Q9H7F0	AT133_HUMAN	ATPase type 13A3	817						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GATCCTCTAAGCTATCATGGA	0.343																																																0													116	107	110					3																	194151926		1883	4103	5986	SO:0001583	missense	79572			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2451C>A	3.37:g.194151926G>T	ENSP00000416508:p.Ser817Arg		Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932452	0.34096	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.86497	-2.13;-2.13	5.66	2.41	0.29592	HAD-like domain (1);	0.257853	0.51477	D	0.000091	T	0.76898	0.4052	L	0.28556	0.865	0.40392	D	0.979556	B	0.06786	0.001	B	0.12837	0.008	T	0.66077	-0.6013	10	0.16896	T	0.51	-1.6429	9.9455	0.41607	0.3626:0.0:0.6374:0.0	.	817	Q9H7F0	AT133_HUMAN	R	817;817;555	ENSP00000416508:S817R;ENSP00000256031:S817R	ENSP00000256031:S817R	S	-	3	2	ATP13A3	195633215	0.434000	0.25570	1.000000	0.80357	0.982000	0.71751	-0.195000	0.09546	0.724000	0.32296	-0.140000	0.14226	AGC		0.343	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		T	194151926	G	T	194151926	3	4	183	1	0	0	0	0	1	0	0	0	1125	962	34	4	1273	4	ATP13A3	3	194151926	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	5561439	194151926	3870504	170	10867											
TNK2	10188	broad.mit.edu	37	3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G	rs541695993	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4. {ECO:0000250}.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728																																																0																																										SO:0001589	frameshift_variant	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1896dupC	3.37:g.195595236_195595236dupG	ENSP00000329425:p.Pro632fs		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	CCDS33928.1																																																																																				0.728	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		G	195595229	-	G	195595228	7	5	183	1	0	1	1	0	0	0	0	0	16323	755	27	0	1236	0	TNK2	3	195595228	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	1443302	195595228	2427202	171	10868											
PCYT1A	5130	broad.mit.edu	37	3	195969503	195969503	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr3:195969503delA	ENST00000292823.2	-	7	667	c.495delT	c.(493-495)tttfs	p.F165fs	PCYT1A_ENST00000419333.1_Frame_Shift_Del_p.F165fs|PCYT1A_ENST00000431016.1_Frame_Shift_Del_p.F165fs	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	165					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CATGGGCTACAAAATCAATCT	0.423																																																0													99	92	94					3																	195969503		2203	4300	6503	SO:0001589	frameshift_variant	5130			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.495delT	3.37:g.195969503delA	ENSP00000292823:p.Phe165fs		A9LYK9|D3DXB1|Q86Y88	Frame_Shift_Del	DEL	ENST00000292823.2	37	CCDS3315.1																																																																																				0.423	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		-	195969503	A	-	195969503	7	5	183	1	0	1	0	1	0	0	0	0	11612	127	5	0	624	0	PCYT1A	3	195969503	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	374275	195969503	2052927	172	10869											
NOP14	8602	broad.mit.edu	37	4	2955332	2955332	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:2955332G>A	ENST00000314262.6	-	5	701	c.653C>T	c.(652-654)aCg>aTg	p.T218M	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.T218M|NOP14_ENST00000398071.4_Missense_Mutation_p.T218M|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.T218M	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	218					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						TAGCTTCTCCGTGAGCTCGAG	0.483																																																0													273	254	260					4																	2955332		2203	4300	6503	SO:0001583	missense	8602			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.653C>T	4.37:g.2955332G>A	ENSP00000315674:p.Thr218Met		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243259	0.79912	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.79258	2.445	0.80722	D	1	D;D	0.64830	0.989;0.994	P;P	0.61275	0.886;0.876	T	0.62530	-0.6835	10	0.87932	D	0	-23.1351	17.7776	0.88514	0.0:0.0:1.0:0.0	.	218;218	E9PFK5;P78316	.;NOP14_HUMAN	M	218;218;218;218;117	ENSP00000405068:T218M;ENSP00000315674:T218M;ENSP00000427415:T218M;ENSP00000381146:T218M	ENSP00000315674:T218M	T	-	2	0	NOP14	2925130	1.000000	0.71417	0.973000	0.42090	0.708000	0.40852	9.291000	0.96070	2.301000	0.77427	0.491000	0.48974	ACG		0.483	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		A	2955332	G	A	2955332	3	1	183	1	0	0	0	0	1	0	0	0	10538	1145	40	1	1976	1	NOP14	4	2955332	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08		2955332	188198944	173	10870											
GRK4	2868	broad.mit.edu	37	4	3015545	3015545	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:3015545G>A	ENST00000398052.4	+	8	1074	c.731G>A	c.(730-732)aGt>aAt	p.S244N	GRK4_ENST00000504933.1_Missense_Mutation_p.S244N|GRK4_ENST00000398051.4_Missense_Mutation_p.S212N|GRK4_ENST00000345167.6_Missense_Mutation_p.S212N	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGTGCAAAGTAGATTCGTA	0.398																																																0													121	104	110					4																	3015545		2203	4300	6503	SO:0001583	missense	2868				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.731G>A	4.37:g.3015545G>A	ENSP00000381129:p.Ser244Asn		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248067	0.59103	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.76	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.74951	0.3784	L	0.39245	1.2	0.80722	D	1	D;P;D;D	0.71674	0.996;0.555;0.996;0.998	P;P;P;D	0.67382	0.857;0.516;0.882;0.951	T	0.78453	-0.2198	10	0.87932	D	0	-10.4604	16.8263	0.85933	0.0:0.0:1.0:0.0	.	212;212;244;244	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	N	212;244;212;244	ENSP00000381128:S212N;ENSP00000381129:S244N;ENSP00000264764:S212N;ENSP00000427445:S244N	ENSP00000264764:S212N	S	+	2	0	GRK4	2985343	1.000000	0.71417	0.705000	0.30386	0.009000	0.06853	9.528000	0.98046	2.199000	0.70637	0.650000	0.86243	AGT		0.398	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		A	3015545	G	A	3015545	3	1	183	1	0	0	0	0	1	0	0	0	6793	1029	36	2	761	2	GRK4	4	3015545	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	60213	3015545	188138731	174	10871											
ABLIM2	84448	broad.mit.edu	37	4	8021390	8021390	+	Missense_Mutation	SNP	C	C	T	rs370025292		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:8021390C>T	ENST00000341937.5	-	13	1343	c.1279G>A	c.(1279-1281)Gta>Ata	p.V427I	ABLIM2_ENST00000296372.8_Missense_Mutation_p.V427I|ABLIM2_ENST00000515079.1_5'Flank|ABLIM2_ENST00000318888.4_Missense_Mutation_p.V161I|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.V427I|ABLIM2_ENST00000514025.1_Missense_Mutation_p.V161I|ABLIM2_ENST00000361581.5_Missense_Mutation_p.V427I|ABLIM2_ENST00000447017.2_Missense_Mutation_p.V460I|ABLIM2_ENST00000361737.5_Intron	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	427					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TTATCTTTTACGCCAGTGTCT	0.468																																																0								C	ILE/VAL,ILE/VAL,ILE/VAL,,,,	0,3136		0,0,1568	97	96	96		1378,1279,1279,,,,	2.6	1	4		96	1,7163		0,1,3581	no	missense,missense,missense,intron,intron,intron,intron	ABLIM2	NM_001130083.1,NM_001130084.1,NM_001130085.1,NM_001130086.1,NM_001130087.1,NM_001130088.1,NM_032432.4	29,29,29,,,,	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	probably-damaging,probably-damaging,probably-damaging,,,,	460/646,427/612,427/573,,,,	8021390	1,10299	1568	3582	5150	SO:0001583	missense	84448			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1279G>A	4.37:g.8021390C>T	ENSP00000342813:p.Val427Ile		E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	C	9.873	1.199542	0.22121	0.0	1.4E-4	ENSG00000163995	ENST00000400045;ENST00000296372;ENST00000545242;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000510277	T;T;T;T;T;T;T;T	0.44083	1.85;1.77;0.93;0.93;1.8;1.86;1.77;0.94	4.36	2.6	0.31112	.	0.154986	0.43110	N	0.000608	T	0.44477	0.1295	L	0.38692	1.165	0.53005	D	0.999965	D;B;P;B;D	0.89917	0.997;0.384;0.777;0.347;1.0	P;B;B;B;D	0.80764	0.847;0.066;0.358;0.054;0.994	T	0.46148	-0.9212	10	0.02654	T	1	.	9.8924	0.41298	0.0:0.8325:0.0:0.1675	.	427;427;161;427;460	Q6H8Q1-2;Q6H8Q1;Q6H8Q1-4;Q6H8Q1-5;E9PF39	.;ABLM2_HUMAN;.;.;.	I	459;427;427;161;161;460;427;427;228	ENSP00000296372:V427I;ENSP00000441255:V427I;ENSP00000317020:V161I;ENSP00000423661:V161I;ENSP00000393511:V460I;ENSP00000342813:V427I;ENSP00000355003:V427I;ENSP00000421718:V228I	ENSP00000296372:V427I	V	-	1	0	ABLIM2	8072290	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.335000	0.43929	0.397000	0.25310	0.555000	0.69702	GTA		0.468	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		T	8021390	C	T	8021390	3	4	183	1	0	0	0	0	1	0	0	0	95	536	19	1	608	1	ABLIM2	4	8021390	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	5005845	8021390	183132886	175	10872											
TLR10	81793	broad.mit.edu	37	4	38775818	38775818	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:38775818A>G	ENST00000308973.4	-	4	1999	c.1394T>C	c.(1393-1395)cTg>cCg	p.L465P	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.L465P|TLR10_ENST00000508334.1_Missense_Mutation_p.L465P|TLR10_ENST00000361424.2_Missense_Mutation_p.L465P	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	465					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TAAGGCCATCAGATGAATAGT	0.348																																																0													92	99	96					4																	38775818		2203	4300	6503	SO:0001583	missense	81793			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1394T>C	4.37:g.38775818A>G	ENSP00000308925:p.Leu465Pro		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135663	0.37728	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.32	5.32	0.75619	.	0.000000	0.37955	N	0.001879	T	0.67040	0.2851	M	0.89785	3.06	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.75451	-0.3313	10	0.87932	D	0	.	15.2878	0.73843	1.0:0.0:0.0:0.0	.	465	Q9BXR5	TLR10_HUMAN	P	465	ENSP00000308925:L465P;ENSP00000421483:L465P;ENSP00000354459:L465P;ENSP00000424923:L465P	ENSP00000308925:L465P	L	-	2	0	TLR10	38452213	1.000000	0.71417	0.243000	0.24186	0.254000	0.26022	9.108000	0.94275	2.014000	0.59158	0.477000	0.44152	CTG		0.348	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			G	38775818	A	G	38775818	3	3	183	1	0	0	0	0	1	0	0	0	15955	188	7	3	1045	3	TLR10	4	38775818	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	30754428	38775818	152378458	176	10873											
KIAA1211	57482	broad.mit.edu	37	4	57182200	57182200	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:57182200G>A	ENST00000504228.1	+	6	2637	c.2532G>A	c.(2530-2532)ccG>ccA	p.P844P	KIAA1211_ENST00000264229.6_Silent_p.P844P|KIAA1211_ENST00000541073.1_Silent_p.P837P			Q6ZU35	K1211_HUMAN	KIAA1211	844										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGCCTCACCGTTTGGAATAA	0.527																																																0													63	73	69					4																	57182200		2146	4271	6417	SO:0001819	synonymous_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2532G>A	4.37:g.57182200G>A			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	CCDS43230.1																																																																																				0.527	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		A	57182200	G	A	57182200	2	1	183	1	0	0	0	0	0	0	0	1	8217	1132	40	1		1	KIAA1211	4	57182200	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	18406382	57182200	133972076	177	10874											
IGFBP7	3490	broad.mit.edu	37	4	57898593	57898593	+	Splice_Site	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:57898593delT	ENST00000295666.4	-	4	861	c.828delA	c.(826-828)aaa>aa	p.K276fs	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Frame_Shift_Del_p.K276fs	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	276				PVKKGEGAEL -> ASEKR (in Ref. 1; AAA16187). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATTGTGTACCTTTTTTCACTG	0.363																																																0													140	130	134					4																	57898593		2203	4300	6503	SO:0001630	splice_region_variant	3490			S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"Immunoglobulin superfamily / I-set domain containing"	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.829+1A>-	4.37:g.57898593delT			B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Frame_Shift_Del	DEL	ENST00000295666.4	37	CCDS3512.1																																																																																				0.363	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1		Frame_Shift_Del	-	57898593	T	-	57898593	8	5	183	1	0	1	0	1	0	0	1	0	7586	1623	56	0	28	0	IGFBP7	4	57898593	Splice_Site	DEL	T	TCGA-B0-5098-01A-01D-1421-08	716393	57898593	133255683	178	10875											
IGFBP7	3490	broad.mit.edu	37	4	57898642	57898642	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:57898642G>A	ENST00000295666.4	-	4	812	c.779C>T	c.(778-780)tCa>tTa	p.S260L	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Missense_Mutation_p.S260L	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	260	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""Insulin(DB00071)|Insulin Regular(DB00030)"	AATTTTTGCTGATGCTGAAGC	0.373																																																0													142	131	135					4																	57898642		2203	4300	6503	SO:0001583	missense	3490			S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"Immunoglobulin superfamily / I-set domain containing"	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.779C>T	4.37:g.57898642G>A	ENSP00000295666:p.Ser260Leu		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Missense_Mutation	SNP	ENST00000295666.4	37	CCDS3512.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241604	0.39598	.	.	ENSG00000163453	ENST00000295666;ENST00000537922	T;T	0.69040	-0.37;-0.37	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.581004	0.17100	N	0.187050	T	0.63283	0.2498	L	0.45581	1.43	0.29859	N	0.827765	B;B	0.26002	0.139;0.139	B;B	0.25405	0.06;0.06	T	0.59690	-0.7407	10	0.37606	T	0.19	-1.4685	18.043	0.89324	0.0:0.0:1.0:0.0	.	260;260	B4E1N2;Q16270	.;IBP7_HUMAN	L	260	ENSP00000295666:S260L;ENSP00000444146:S260L	ENSP00000295666:S260L	S	-	2	0	IGFBP7	57593399	1.000000	0.71417	0.559000	0.28332	0.724000	0.41520	6.398000	0.73244	2.689000	0.91719	0.655000	0.94253	TCA		0.373	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			A	57898642	G	A	57898642	3	1	183	1	0	0	0	0	1	0	0	0	7586	1294	45	2	77	2	IGFBP7	4	57898642	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	49	57898642	133255634	179	10876											
EPHA5	2044	broad.mit.edu	37	4	66231674	66231674	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:66231674T>C	ENST00000273854.3	-	11	2626	c.2026A>G	c.(2026-2028)Acc>Gcc	p.T676A	EPHA5_ENST00000432638.2_Missense_Mutation_p.T513A|EPHA5_ENST00000354839.4_Missense_Mutation_p.T654A|EPHA5_ENST00000511294.1_Missense_Mutation_p.T677A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCTCAATGGTGATACATGAT	0.383										TSP Lung(17;0.13)																																						0													248	199	215					4																	66231674		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2026A>G	4.37:g.66231674T>C	ENSP00000273854:p.Thr676Ala		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424876	0.43020	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.54	4.33	0.51752	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.101104	0.43416	D	0.000568	T	0.74733	0.3755	L	0.39898	1.24	0.42463	D	0.992797	B;B;B;B	0.13594	0.0;0.002;0.0;0.008	B;B;B;B	0.12837	0.001;0.007;0.001;0.008	T	0.69232	-0.5199	10	0.52906	T	0.07	.	8.3934	0.32542	0.1309:0.0:0.1371:0.732	.	655;677;654;676	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	676;513;654;677	ENSP00000273854:T676A;ENSP00000389208:T513A;ENSP00000346899:T654A;ENSP00000427638:T677A	ENSP00000273854:T676A	T	-	1	0	EPHA5	65914269	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.887000	0.48586	0.906000	0.36621	0.455000	0.32223	ACC		0.383	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		C	66231674	T	C	66231674	3	2	183	1	0	0	0	0	1	0	0	0	5172	1696	59	3	1119	3	EPHA5	4	66231674	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	8333032	66231674	124922602	180	10877											
LRIT3	345193	broad.mit.edu	37	4	110791607	110791607	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:110791607A>G	ENST00000594814.1	+	4	1702	c.1702A>G	c.(1702-1704)Acc>Gcc	p.T568A	LRIT3_ENST00000379920.3_Missense_Mutation_p.T523A|LRIT3_ENST00000409621.2_Missense_Mutation_p.T385A|LRIT3_ENST00000327908.3_Missense_Mutation_p.T385A	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	568	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCAATGCATCACCTTTTCTAC	0.463																																																0													149	141	144					4																	110791607		2203	4300	6503	SO:0001583	missense	345193			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1702A>G	4.37:g.110791607A>G	ENSP00000469759:p.Thr568Ala		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836310	0.50951	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.58210	0.35;0.58;0.35	5.16	5.16	0.70880	.	0.236499	0.44483	D	0.000458	T	0.41213	0.1149	L	0.54323	1.7	0.27378	N	0.955508	P;P	0.43094	0.799;0.571	B;B	0.33960	0.079;0.173	T	0.47774	-0.9091	10	0.39692	T	0.17	.	8.4643	0.32947	0.8476:0.0:0.1524:0.0	.	523;385	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	A	385;523;385	ENSP00000328222:T385A;ENSP00000369252:T523A;ENSP00000386734:T385A	ENSP00000328222:T385A	T	+	1	0	LRIT3	111011056	0.999000	0.42202	0.990000	0.47175	0.752000	0.42762	2.379000	0.44318	1.943000	0.56356	0.533000	0.62120	ACC		0.463	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		G	110791607	A	G	110791607	3	3	183	1	0	0	0	0	1	0	0	0	8951	159	6	3	1577	3	LRIT3	4	110791607	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	44559933	110791607	80362669	181	10878											
ANXA5	308	broad.mit.edu	37	4	122604561	122604561	+	Silent	SNP	G	G	T	rs144170580		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:122604561G>T	ENST00000296511.5	-	5	546	c.261C>A	c.(259-261)ccC>ccA	p.P87P	ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Silent_p.P27P	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	87					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						AAAGCCGAGAGGGTTTCATCA	0.338																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)											0													101	103	102					4																	122604561		2203	4300	6503	SO:0001819	synonymous_variant	308			U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.261C>A	4.37:g.122604561G>T			D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	ENST00000296511.5	37	CCDS3720.1																																																																																				0.338	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		T	122604561	G	T	122604561	2	4	183	1	0	0	0	0	0	0	0	1	721	987	35	4		4	ANXA5	4	122604561	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	11812954	122604561	68549715	182	10879											
MFSD8	256471	broad.mit.edu	37	4	128842707	128842707	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:128842707T>C	ENST00000296468.3	-	12	1449	c.1322A>G	c.(1321-1323)tAt>tGt	p.Y441C	MFSD8_ENST00000513559.1_Missense_Mutation_p.Y396C|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	441					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AATTTTTGAATATAGAGTATA	0.408																																																0													64	71	68					4																	128842707		2203	4300	6503	SO:0001583	missense	256471			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1322A>G	4.37:g.128842707T>C	ENSP00000296468:p.Tyr441Cys		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787568	0.70337	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	T;T	0.74315	-0.83;-0.83	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85986	0.5825	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87827	0.2642	10	0.72032	D	0.01	-11.7489	15.1685	0.72850	0.0:0.0:0.0:1.0	.	441	Q8NHS3	MFSD8_HUMAN	C	441;396	ENSP00000296468:Y441C;ENSP00000425000:Y396C	ENSP00000296468:Y441C	Y	-	2	0	MFSD8	129062157	1.000000	0.71417	0.961000	0.40146	0.788000	0.44548	7.015000	0.76387	2.170000	0.68504	0.459000	0.35465	TAT		0.408	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		C	128842707	T	C	128842707	3	2	183	1	0	0	0	0	1	0	0	0	9540	1406	49	3	242	3	MFSD8	4	128842707	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	6238146	128842707	62311569	183	10880											
INPP4B	8821	broad.mit.edu	37	4	143007357	143007357	+	Silent	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:143007357G>T	ENST00000513000.1	-	25	2860	c.2427C>A	c.(2425-2427)ctC>ctA	p.L809L	INPP4B_ENST00000508116.1_Silent_p.L809L|INPP4B_ENST00000262992.4_Silent_p.L809L|INPP4B_ENST00000308502.4_Silent_p.L809L|INPP4B_ENST00000509777.1_Silent_p.L809L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	809					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TATTTTGAAGGAGATTTTCTA	0.338																																																0													91	95	94					4																	143007357		2201	4298	6499	SO:0001819	synonymous_variant	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2427C>A	4.37:g.143007357G>T			Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	CCDS3757.1																																																																																				0.338	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		T	143007357	G	T	143007357	2	4	183	1	0	0	0	0	0	0	0	1	7755	1161	41	4		4	INPP4B	4	143007357	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	14164650	143007357	48146919	184	10881											
NR3C2	4306	broad.mit.edu	37	4	149075708	149075708	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:149075708G>A	ENST00000358102.3	-	5	2721	c.2359C>T	c.(2359-2361)Ctt>Ttt	p.L787F	NR3C2_ENST00000355292.3_Missense_Mutation_p.L791F|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Missense_Mutation_p.L791F|NR3C2_ENST00000344721.4_Missense_Mutation_p.L787F|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	787	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CTACCTGGAAGTACCTTTGCC	0.507																																					Melanoma(27;428 957 40335 51025 51111)											0													156	161	159					4																	149075708		2203	4300	6503	SO:0001583	missense	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2359C>T	4.37:g.149075708G>A	ENSP00000350815:p.Leu787Phe		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170898	0.78452	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000511528	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	5.91	3.18	0.36537	.	0.124573	0.56097	D	0.000031	D	0.98074	0.9365	M	0.87038	2.855	0.48901	D	0.999729	D	0.59767	0.986	D	0.74674	0.984	D	0.97717	1.0194	9	.	.	.	.	15.1214	0.72447	0.0:0.0:0.4878:0.5122	.	787	B0ZBF6	.	F	787;791;787;791	ENSP00000341390:L787F;ENSP00000347441:L791F;ENSP00000350815:L787F;ENSP00000421481:L791F	.	L	-	1	0	NR3C2	149295158	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.743000	0.62110	0.344000	0.23847	0.655000	0.94253	CTT		0.507	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			A	149075708	G	A	149075708	3	1	183	1	0	0	0	0	1	0	0	0	10633	1029	36	2	615	2	NR3C2	4	149075708	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	6068351	149075708	42078568	185	10882											
FGA	2243	broad.mit.edu	37	4	155508013	155508013	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:155508013G>A	ENST00000302053.3	-	5	646	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	FGA_ENST00000403106.3_Missense_Mutation_p.R190C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	190					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTACTTCACGAGCTAAAGCC	0.418																																					NSCLC(143;340 1922 20892 22370 48145)											0													109	110	110					4																	155508013		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.568C>T	4.37:g.155508013G>A	ENSP00000306361:p.Arg190Cys		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.161843	0.38217	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.82711	-1.64;-1.64	5.87	4.1	0.47936	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	0.583836	0.20169	N	0.097776	D	0.84502	0.5486	L	0.51422	1.61	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.66979	0.846;0.948	T	0.74441	-0.3664	10	0.51188	T	0.08	.	3.2437	0.06789	0.2126:0.0:0.5604:0.2269	.	190;190	P02671-2;P02671	.;FIBA_HUMAN	C	190	ENSP00000306361:R190C;ENSP00000385981:R190C	ENSP00000306361:R190C	R	-	1	0	FGA	155727463	0.652000	0.27349	0.003000	0.11579	0.192000	0.23643	5.413000	0.66399	1.584000	0.49913	0.655000	0.94253	CGT		0.418	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		A	155508013	G	A	155508013	3	1	183	1	0	0	0	0	1	0	0	0	5832	1058	37	1	2084	1	FGA	4	155508013	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	6432305	155508013	35646263	186	10883											
FAM198B	51313	broad.mit.edu	37	4	159092386	159092386	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:159092386A>G	ENST00000296530.8	-	2	763	c.142T>C	c.(142-144)Ttg>Ctg	p.L48L	RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Silent_p.L48L|FAM198B_ENST00000592057.1_Silent_p.L48L|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Silent_p.L48L|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	48						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						AGGAAGCCCAAGTAGATGGCA	0.662																																																0													42	44	43					4																	159092386		2203	4300	6503	SO:0001819	synonymous_variant	51313				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.142T>C	4.37:g.159092386A>G			Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	CCDS3798.1																																																																																				0.662	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		G	159092386	A	G	159092386	2	3	183	1	0	0	0	0	0	0	0	1	5531	69	3	3		3	FAM198B	4	159092386	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3584373	159092386	32061890	187	10884											
CLCN3	1182	broad.mit.edu	37	4	170625248	170625248	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:170625248T>C	ENST00000513761.1	+	10	2222	c.1663T>C	c.(1663-1665)Tgg>Cgg	p.W555R	CLCN3_ENST00000504131.2_Missense_Mutation_p.W538R|CLCN3_ENST00000347613.4_Missense_Mutation_p.W555R|CLCN3_ENST00000360642.3_Missense_Mutation_p.W528R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	555					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TCACCACGACTGGTTTATCTT	0.527																																																0													239	201	214					4																	170625248		2203	4300	6503	SO:0001583	missense	1182			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1663T>C	4.37:g.170625248T>C	ENSP00000424603:p.Trp555Arg		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413444	0.83449	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.89485	-2.51;-2.52;-2.45;-2.49;-2.36	5.22	5.22	0.72569	Chloride channel, core (2);	0.104713	0.64402	D	0.000001	D	0.92482	0.7613	M	0.86178	2.8	0.80722	D	1	B;B;B;B;B	0.31599	0.33;0.302;0.302;0.195;0.282	B;B;B;B;B	0.43889	0.435;0.435;0.435;0.435;0.308	D	0.91820	0.5466	10	0.41790	T	0.15	0.4512	15.4441	0.75216	0.0:0.0:0.0:1.0	.	528;538;528;555;555	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	R	555;555;528;538;528	ENSP00000424603:W555R;ENSP00000261514:W555R;ENSP00000353857:W528R;ENSP00000424540:W538R;ENSP00000425323:W528R	ENSP00000261514:W555R	W	+	1	0	CLCN3	170861823	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.994000	0.88315	2.113000	0.64589	0.449000	0.29647	TGG		0.527	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			C	170625248	T	C	170625248	3	2	183	1	0	0	0	0	1	0	0	0	3466	1580	55	3	1697	3	CLCN3	4	170625248	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	11532862	170625248	20529028	188	10885											
ACSL1	2180	broad.mit.edu	37	4	185697722	185697722	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:185697722T>C	ENST00000515030.1	-	7	997	c.672A>G	c.(670-672)atA>atG	p.I224M	ACSL1_ENST00000504900.1_Missense_Mutation_p.I224M|ACSL1_ENST00000437665.3_Missense_Mutation_p.I53M|ACSL1_ENST00000504342.1_Missense_Mutation_p.I224M|ACSL1_ENST00000281455.2_Missense_Mutation_p.I224M|ACSL1_ENST00000513317.1_Missense_Mutation_p.I224M|ACSL1_ENST00000507295.1_Missense_Mutation_p.I190M|ACSL1_ENST00000454703.2_Missense_Mutation_p.I53M			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	224					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCATGACAACTATGATTTTAA	0.488																																																0													152	145	148					4																	185697722		2203	4300	6503	SO:0001583	missense	2180			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.672A>G	4.37:g.185697722T>C	ENSP00000422607:p.Ile224Met		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489389	0.64074	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317;ENST00000504900	T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	5.87	-11.7	0.00046	AMP-dependent synthetase/ligase (1);	0.137493	0.64402	D	0.000006	T	0.31734	0.0806	H	0.95079	3.62	0.28683	N	0.905029	P;P;P;P	0.50272	0.799;0.588;0.933;0.588	P;P;D;P	0.65773	0.582;0.626;0.938;0.626	T	0.23261	-1.0193	10	0.72032	D	0.01	-8.8536	5.7031	0.17893	0.2714:0.1201:0.4931:0.1153	.	190;224;224;224	E7EPM6;B7Z452;D6RER0;P33121	.;.;.;ACSL1_HUMAN	M	53;224;224;190;53;224;224;224	ENSP00000407165:I53M;ENSP00000422607:I224M;ENSP00000281455:I224M;ENSP00000426244:I190M;ENSP00000405687:I53M;ENSP00000425006:I224M;ENSP00000426150:I224M;ENSP00000424935:I224M	ENSP00000281455:I224M	I	-	3	3	ACSL1	185934716	0.063000	0.20901	0.000000	0.03702	0.912000	0.54170	-0.713000	0.05007	-1.626000	0.01552	0.533000	0.62120	ATA		0.488	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		C	185697722	T	C	185697722	3	2	183	1	0	0	0	0	1	0	0	0	177	1512	53	3	1484	3	ACSL1	4	185697722	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	15072474	185697722	5456554	189	10886											
FAT1	2195	broad.mit.edu	37	4	187540370	187540370	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:187540370A>G	ENST00000441802.2	-	10	7579	c.7370T>C	c.(7369-7371)cTg>cCg	p.L2457P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2457	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAATGGCTTCAGGGCGTGCCG	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													177	181	180					4																	187540370		2027	4172	6199	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7370T>C	4.37:g.187540370A>G	ENSP00000406229:p.Leu2457Pro			Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	9.917	1.211088	0.22289	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01787	4.64	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.118091	0.56097	D	0.000031	T	0.07234	0.0183	L	0.49640	1.575	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.49082	-0.8976	10	0.30078	T	0.28	.	15.5954	0.76574	1.0:0.0:0.0:0.0	.	2457	Q14517	FAT1_HUMAN	P	2457;2459	ENSP00000406229:L2457P	ENSP00000260147:L2459P	L	-	2	0	FAT1	187777364	1.000000	0.71417	0.988000	0.46212	0.026000	0.11368	9.087000	0.94110	2.330000	0.79161	0.528000	0.53228	CTG		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		G	187540370	A	G	187540370	3	3	183	1	0	0	0	0	1	0	0	0	5691	188	7	3	6468	3	FAT1	4	187540370	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1842648	187540370	3613906	190	10887											
ZFP42	132625	broad.mit.edu	37	4	188924487	188924487	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr4:188924487delC	ENST00000326866.4	+	4	934	c.526delC	c.(526-528)cccfs	p.P177fs	ZFP42_ENST00000509524.1_Frame_Shift_Del_p.P177fs	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	177					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TAGAAAGAAGCCCCCCATAAA	0.468																																																0													97	109	105					4																	188924487		2203	4300	6503	SO:0001589	frameshift_variant	132625			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.526delC	4.37:g.188924487delC	ENSP00000317686:p.Pro177fs		D3DP65|Q8WXE2	Frame_Shift_Del	DEL	ENST00000326866.4	37	CCDS3849.1																																																																																				0.468	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		-	188924487	C	-	188924487	7	5	183	1	0	1	0	1	0	0	0	0	17655	739	26	0	528	0	ZFP42	4	188924487	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	1384117	188924487	2229789	191	10888											
BRD9	65980	broad.mit.edu	37	5	884146	884146	+	Silent	SNP	C	C	T	rs540220873		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:884146C>T	ENST00000467963.1	-	8	1039	c.873G>A	c.(871-873)acG>acA	p.T291T	BRD9_ENST00000435709.2_Silent_p.T175T|BRD9_ENST00000483173.1_Silent_p.T238T|BRD9_ENST00000323510.4_Silent_p.T195T|BRD9_ENST00000388890.4_Silent_p.T175T|BRD9_ENST00000494422.1_Intron	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	291					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CGGTACTGTCCGTCAAGCTGC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		20238	0.001		0.0	False		,,,				2504	0.0															0													119	93	102					5																	884146		2203	4300	6503	SO:0001819	synonymous_variant	65980			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.873G>A	5.37:g.884146C>T			A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	CCDS34127.2																																																																																				0.637	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		T	884146	C	T	884146	2	4	183	1	0	0	0	0	0	0	0	1	1509	639	23	1		1	BRD9	5	884146	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08		884146	180031114	192	10889											
ANKH	56172	broad.mit.edu	37	5	14713040	14713040	+	Silent	SNP	G	G	A	rs376655130		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:14713040G>A	ENST00000284268.6	-	11	1638	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	ANKH_ENST00000535119.1_Silent_p.G238G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	436					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCCCACAAAGCCCGCCAGGA	0.622																																																0								G		2,4404	4.2+/-10.8	0,2,2201	32	34	33		1308	-6.5	0.8	5		33	0,8600		0,0,4300	no	coding-synonymous	ANKH	NM_054027.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		436/493	14713040	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56172			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1308C>T	5.37:g.14713040G>A			B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	CCDS3885.1																																																																																				0.622	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		A	14713040	G	A	14713040	2	1	183	1	0	0	0	0	0	0	0	1	627	958	34	2		2	ANKH	5	14713040	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	13828894	14713040	166202220	193	10890											
CDH10	1008	broad.mit.edu	37	5	24488218	24488219	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:24488218_24488219insT	ENST00000264463.4	-	12	2427_2428	c.1920_1921insA	c.(1918-1923)aaagagfs	p.E641fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	641					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCAGAGGCTCTTTTTTTCGCT	0.406										HNSCC(23;0.051)																																						0																																										SO:0001589	frameshift_variant	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1921dupA	5.37:g.24488225_24488225dupT	ENSP00000264463:p.Glu641fs		Q9ULB3	Frame_Shift_Ins	INS	ENST00000264463.4	37	CCDS3892.1																																																																																				0.406	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		T	24488219	-	T	24488218	7	5	183	1	0	1	1	0	0	0	0	0	3098	922	32	0	449	0	CDH10	5	24488218	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	9775178	24488218	156427042	194	10891											
SEPP1	100129792	broad.mit.edu	37	5	42801175	42801175	+	3'UTR	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:42801175C>T	ENST00000361970.5	+	0	2144				SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.A265T|SEPP1_ENST00000507920.1_Silent_p.Q154Q|SEPP1_ENST00000506577.1_Missense_Mutation_p.A265T|SEPP1_ENST00000514985.1_Missense_Mutation_p.A265T	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						TCTTCACTTGCTGGCATATCT	0.453																																																0													61	62	62					5																	42801175		1983	4159	6142	SO:0001624	3_prime_UTR_variant	6414				CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.*1292C>T	5.37:g.42801175C>T			B3KXI4|B4E0P7|Q5BLP6	Missense_Mutation	SNP	ENST00000361970.5	37	CCDS47203.1	.	.	.	.	.	.	.	.	.	.	C	8.259	0.810684	0.16537	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.58	3.77	0.43336	.	1.830940	0.03680	U	0.245296	T	0.22282	0.0537	N	0.24115	0.695	0.09310	N	0.999997	.	.	.	.	.	.	T	0.25152	-1.0140	8	0.32370	T	0.25	.	2.7979	0.05406	0.1373:0.447:0.2663:0.1494	.	.	.	.	T	265	ENSP00000420939:A265T;ENSP00000427671:A265T;ENSP00000425915:A265T;ENSP00000421626:A265T	ENSP00000425915:A265T	A	-	1	0	SEPP1	42836932	0.018000	0.18449	0.002000	0.10522	0.312000	0.27988	1.306000	0.33505	0.680000	0.31366	0.591000	0.81541	GCA		0.453	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367497.1	XM_001717416		T	42801175	C	T	42801175	1	4	183	0	1	0	0	0	0	0	0	0	14063	797	28	2		2	SEPP1	5	42801175	3'UTR	SNP	C	TCGA-B0-5098-01A-01D-1421-08	18312957	42801175	138114085	195	10892											
NNT	23530	broad.mit.edu	37	5	43609438	43609438	+	Silent	SNP	T	T	A	rs143463864	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:43609438T>A	ENST00000264663.5	+	2	362	c.141T>A	c.(139-141)ccT>ccA	p.P47P	NNT_ENST00000512996.2_Intron|NNT_ENST00000344920.4_Silent_p.P47P	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	47					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GTAAAGCGCCTGTAAAACCAG	0.383																																																0													73	76	75					5																	43609438		2203	4300	6503	SO:0001819	synonymous_variant	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.141T>A	5.37:g.43609438T>A			Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	CCDS3949.1																																																																																				0.383	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		A	43609438	T	A	43609438	2	1	183	1	0	0	0	0	0	0	0	1	10512	1567	55	5		5	NNT	5	43609438	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	808263	43609438	137305822	196	10893											
MAST4	375449	broad.mit.edu	37	5	66386058	66386058	+	Splice_Site	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:66386058A>T	ENST00000403625.2	+	6	1127	c.832A>T	c.(832-834)Agg>Tgg	p.R278W	MAST4_ENST00000405643.1_Splice_Site_p.R96*|MAST4_ENST00000490016.2_Splice_Site_p.R89W|MAST4_ENST00000261569.7_Splice_Site_p.R84W|MAST4_ENST00000403666.1_Splice_Site_p.R89W|MAST4_ENST00000404260.3_Splice_Site_p.S278C	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	281						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATTTGCACGGAGGTAAGGACT	0.468																																																0													72	67	68					5																	66386058		1857	4097	5954	SO:0001630	splice_region_variant	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.833+1A>T	5.37:g.66386058A>T			A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Splice_Site	SNP	ENST00000403625.2	37	CCDS54861.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	a|a|a	34|34|34	5.387086|5.387086|5.387086	0.95988|0.95988|0.95988	.|.|.	.|.|.	ENSG00000069020|ENSG00000069020|ENSG00000069020	ENST00000403625;ENST00000490016;ENST00000403666;ENST00000261569;ENST00000436277;ENST00000432399|ENST00000405643|ENST00000404260;ENST00000380908	T;T;T;T;T|.|T	0.34275|.|0.33216	1.37;1.37;1.37;1.37;1.37|.|1.42	5.82|5.82|5.82	4.66|4.66|4.66	0.58398|0.58398|0.58398	Microtubule-associated serine/threonine-protein kinase, domain (1);|.|.	.|.|0.192978	.|.|0.31821	.|.|U	.|.|0.007016	T|.|T	0.55673|.|0.55673	0.1935|.|0.1935	M|M|M	0.90019|0.90019|0.90019	3.08|3.08|3.08	0.30549|0.30549|0.30549	N|N|N	0.765658|0.765658|0.765658	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;0.999;0.999|.|.	D;D;D;D|.|.	0.91635|.|.	0.999;0.996;0.992;0.991|.|.	T|.|T	0.64931|.|0.64931	-0.6291|.|-0.6291	9|.|8	0.87932|0.54805|0.49607	D|T|T	0|0.06|0.09	-18.2228|-18.2228|-18.2228	13.3795|13.3795|13.3795	0.60759|0.60759|0.60759	0.8686:0.1314:0.0:0.0|0.8686:0.1314:0.0:0.0|0.8686:0.1314:0.0:0.0	.|.|.	281;84;89;89|.|.	O15021;O15021-2;O15021-3;D6RAK1|.|.	MAST4_HUMAN;.;.;.|.|.	W|X|C	278;89;89;84;84;84|96|278;96	ENSP00000385727:R278W;ENSP00000421739:R89W;ENSP00000384313:R89W;ENSP00000261569:R84W;ENSP00000392478:R84W|.|ENSP00000385048:S278C	ENSP00000261569:R84W|ENSP00000384099:R96X|ENSP00000370294:S96C	R|R|S	+|+|+	1|1|1	2|2|0	MAST4|MAST4|MAST4	66421814|66421814|66421814	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.511000|0.511000|0.511000	0.34104|0.34104|0.34104	6.838000|6.838000|6.838000	0.75359|0.75359|0.75359	1.032000|1.032000|1.032000	0.39892|0.39892|0.39892	-0.285000|-0.285000|-0.285000	0.09966|0.09966|0.09966	AGG|AGA|AGT		0.468	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		Missense_Mutation	T	66386058	A	T	66386058	5	4	183	1	0	0	0	0	0	0	1	0	9329	318	11	5	984	5	MAST4	5	66386058	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	22776620	66386058	114529202	197	10894											
ZNF366	167465	broad.mit.edu	37	5	71756853	71756853	+	Silent	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:71756853G>T	ENST00000318442.5	-	2	961	c.471C>A	c.(469-471)ccC>ccA	p.P157P		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	157					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACACGGCGCTGGGCTTAATGG	0.607																																																0													101	110	107					5																	71756853		2203	4300	6503	SO:0001819	synonymous_variant	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.471C>A	5.37:g.71756853G>T			Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	CCDS4015.1																																																																																				0.607	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			T	71756853	G	T	71756853	2	4	183	1	0	0	0	0	0	0	0	1	17875	1335	47	4		4	ZNF366	5	71756853	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	5370795	71756853	109158407	198	10895											
COL4A3BP	10087	broad.mit.edu	37	5	74754945	74754945	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:74754945C>T	ENST00000405807.4	-	3	714	c.293G>A	c.(292-294)cGt>cAt	p.R98H	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R98H|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.R226H	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	98	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCCTGAGCACGAAGATACCA	0.388																																																0													201	167	178					5																	74754945		2203	4300	6503	SO:0001583	missense	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.293G>A	5.37:g.74754945C>T	ENSP00000383996:p.Arg98His		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406290	0.96051	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.13089	2.62;2.62;2.62	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.55263	-0.8168	10	0.87932	D	0	-0.0844	18.9443	0.92616	0.0:1.0:0.0:0.0	.	98;226;98	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	H	98;226;98	ENSP00000383996:R98H;ENSP00000369862:R226H;ENSP00000261415:R98H	ENSP00000261415:R98H	R	-	2	0	COL4A3BP	74790701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.682000	0.84083	2.562000	0.86427	0.655000	0.94253	CGT		0.388	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		T	74754945	C	T	74754945	3	4	183	1	0	0	0	0	1	0	0	0	3694	536	19	1	1641	1	COL4A3BP	5	74754945	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2998092	74754945	106160315	199	10896											
MCTP1	79772	broad.mit.edu	37	5	94253679	94253679	+	Splice_Site	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:94253679C>T	ENST00000515393.1	-	8	1272		c.e8-1		MCTP1_ENST00000505208.1_Splice_Site|MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000312216.8_Splice_Site	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1						calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGCCGCACGTCTGGATGGAAA	0.438																																																0													62	65	64					5																	94253679		2203	4300	6503	SO:0001630	splice_region_variant	79772				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1273-1G>A	5.37:g.94253679C>T			Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Splice_Site	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979664	0.34942	.	.	ENSG00000175471	ENST00000515393;ENST00000312216;ENST00000512425;ENST00000505208	.	.	.	5.14	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7195	0.46032	0.1899:0.8101:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCTP1	94279435	1.000000	0.71417	0.998000	0.56505	0.442000	0.32017	1.392000	0.34486	1.353000	0.45828	0.655000	0.94253	.		0.438	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	Intron	T	94253679	C	T	94253679	5	4	183	1	0	0	0	0	0	0	1	0	9402	927	32	2	1791	2	MCTP1	5	94253679	Splice_Site	SNP	C	TCGA-B0-5098-01A-01D-1421-08	19498734	94253679	86661581	200	10897											
ELL2	22936	broad.mit.edu	37	5	95226808	95226808	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:95226808T>C	ENST00000237853.4	-	10	2109	c.1760A>G	c.(1759-1761)cAg>cGg	p.Q587R	ELL2_ENST00000431061.2_Splice_Site_p.Q337R	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	587					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TCCATTTACCTGATACTCTTT	0.433																																																0													190	188	189					5																	95226808		2203	4300	6503	SO:0001630	splice_region_variant	22936			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1761+1A>G	5.37:g.95226808T>C			B4DNK7	Splice_Site	SNP	ENST00000237853.4	37	CCDS4080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.4|29.4	5.005165|5.005165	0.93287|0.93287	.|.	.|.	ENSG00000118985|ENSG00000118985	ENST00000237853;ENST00000431061|ENST00000508757	T;T|.	0.22945|.	1.93;1.93|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Occludin/RNA polymerase II elongation factor, ELL domain (1);|.	0.101736|.	0.64402|.	D|.	0.000001|.	T|T	0.71195|0.71195	0.3311|0.3311	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B|.	0.24258|.	0.1|.	B|.	0.32149|.	0.141|.	T|T	0.68918|0.68918	-0.5282|-0.5282	10|5	0.72032|.	D|.	0.01|.	-1.8403|-1.8403	16.4675|16.4675	0.84087|0.84087	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	587|.	O00472|.	ELL2_HUMAN|.	R|G	587;337|105	ENSP00000237853:Q587R;ENSP00000399704:Q337R|.	ENSP00000237853:Q587R|.	Q|R	-|-	2|1	0|2	ELL2|ELL2	95252564|95252564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	8.013000|8.013000	0.88655|0.88655	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	CAG|AGG		0.433	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081	Missense_Mutation	C	95226808	T	C	95226808	5	2	183	1	0	0	0	0	0	0	1	0	5065	1594	55	3	174	3	ELL2	5	95226808	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	973129	95226808	85688452	201	10898											
ERAP2	64167	broad.mit.edu	37	5	96251400	96251400	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:96251400T>C	ENST00000437043.3	+	18	3377	c.2666T>C	c.(2665-2667)tTg>tCg	p.L889S	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.L844S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	889					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AGATTTGACTTGGGCTCATAT	0.294																																																0													142	145	144					5																	96251400		2203	4300	6503	SO:0001583	missense	64167			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2666T>C	5.37:g.96251400T>C	ENSP00000400376:p.Leu889Ser		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294287	0.40594	.	.	ENSG00000164308	ENST00000437043;ENST00000379904	T;T	0.04654	3.58;3.58	3.32	3.32	0.38043	.	0.246011	0.27526	N	0.018977	T	0.06645	0.0170	L	0.58583	1.82	0.80722	D	1	B;B	0.29188	0.198;0.236	B;B	0.37943	0.07;0.261	T	0.15378	-1.0439	10	0.08837	T	0.75	.	8.6711	0.34152	0.0:0.0:0.0:1.0	.	844;889	Q6P179-3;Q6P179	.;ERAP2_HUMAN	S	889;844	ENSP00000400376:L889S;ENSP00000369235:L844S	ENSP00000369235:L844S	L	+	2	0	ERAP2	96277156	0.885000	0.30320	0.997000	0.53966	0.549000	0.35272	1.092000	0.30927	1.480000	0.48289	0.377000	0.23210	TTG		0.294	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		C	96251400	T	C	96251400	3	2	183	1	0	0	0	0	1	0	0	0	5206	1821	63	3	2732	3	ERAP2	5	96251400	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1024592	96251400	84663860	202	10899											
LNPEP	4012	broad.mit.edu	37	5	96350727	96350727	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:96350727C>A	ENST00000231368.5	+	13	2996	c.2304C>A	c.(2302-2304)gcC>gcA	p.A768A	LNPEP_ENST00000395770.3_Silent_p.A754A	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	768					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TCACCGAAGCCCTGTTTCAGA	0.443																																																0													123	115	118					5																	96350727		2203	4300	6503	SO:0001819	synonymous_variant	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2304C>A	5.37:g.96350727C>A			O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	CCDS4087.1																																																																																				0.443	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		A	96350727	C	A	96350727	2	1	183	1	0	0	0	0	0	0	0	1	8866	610	22	4		4	LNPEP	5	96350727	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	99327	96350727	84564533	203	10900											
APC	324	broad.mit.edu	37	5	112176344	112176345	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:112176344_112176345insA	ENST00000457016.1	+	16	5433_5434	c.5053_5054insA	c.(5053-5055)gaafs	p.E1685fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.E1685fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Ins_p.E1685fs			P25054	APC_HUMAN	adenomatous polyposis coli	1685	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGGTGAATTTGAAAAACGAGAT	0.436		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)																																								SO:0001589	frameshift_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5058dupA	5.37:g.112176349_112176349dupA	ENSP00000413133:p.Glu1685fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	CCDS4107.1																																																																																				0.436	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		A	112176345	-	A	112176344	7	5	183	1	0	1	1	0	0	0	0	0	763	1291	45	0	5111	0	APC	5	112176344	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	15825617	112176344	68738916	204	10901											
KCNN2	3781	broad.mit.edu	37	5	113822745	113822745	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:113822745A>G	ENST00000512097.3	+	7	2272		c.e7-1		RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Splice_Site|KCNN2_ENST00000264773.3_Splice_Site|KCNN2_ENST00000507750.1_Splice_Site			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TTCTCTTAACAGGTAAAAAAT	0.373																																																0													61	61	61					5																	113822745		2202	4300	6502	SO:0001630	splice_region_variant	3781			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1255-1A>G	5.37:g.113822745A>G			A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Splice_Site	SNP	ENST00000512097.3	37	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.565215	0.65651	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0129	0.71562	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNN2	113850644	1.000000	0.71417	0.997000	0.53966	0.835000	0.47333	8.782000	0.91809	2.074000	0.62210	0.529000	0.55759	.		0.373	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614	Intron	G	113822745	A	G	113822745	5	3	183	1	0	0	0	0	0	0	1	0	8081	202	7	3	1275	3	KCNN2	5	113822745	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1646401	113822745	67092515	205	10902											
FTMT	94033	broad.mit.edu	37	5	121187789	121187789	+	Frame_Shift_Del	DEL	C	C	-	rs540007588	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:121187789delC	ENST00000321339.1	+	1	140	c.131delC	c.(130-132)gccfs	p.A44fs		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	44					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGGCAGATCGCCCCCCGCCGC	0.776																																																0													5	7	6					5																	121187789		1867	3737	5604	SO:0001589	frameshift_variant	94033			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.131delC	5.37:g.121187789delC	ENSP00000313691:p.Ala44fs			Frame_Shift_Del	DEL	ENST00000321339.1	37	CCDS4128.1																																																																																				0.776	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		-	121187789	C	-	121187789	7	5	183	1	0	1	0	1	0	0	0	0	6087	739	26	0	133	0	FTMT	5	121187789	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	7365044	121187789	59727471	206	10903											
FNIP1	96459	broad.mit.edu	37	5	131066705	131066706	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:131066705_131066706delTT	ENST00000510461.1	-	3	340_341	c.245_246delAA	c.(244-246)aaafs	p.K82fs	FNIP1_ENST00000511848.1_Frame_Shift_Del_p.K82fs|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Frame_Shift_Del_p.K82fs|FNIP1_ENST00000307954.8_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	82					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCCCAAAGACTTTAACTTGAGC	0.347																																																0																																										SO:0001589	frameshift_variant	96459			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.245_246delAA	5.37:g.131066705_131066706delTT	ENSP00000421985:p.Lys82fs		D6RJH5|Q86T47|Q9BUT0	Frame_Shift_Del	DEL	ENST00000510461.1	37	CCDS34227.1																																																																																				0.347	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		-	131066706	TT	-	131066705	7	5	183	1	0	1	0	1	0	0	0	0	5977	1606	56	0	3318	0	FNIP1	5	131066705	Frame_Shift_Del	DEL	TT	TCGA-B0-5098-01A-01D-1421-08	9878916	131066705	49848555	207	10904											
SLC22A4	6583	broad.mit.edu	37	5	131663087	131663087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:131663087delT	ENST00000200652.3	+	5	1116	c.942delT	c.(940-942)gatfs	p.D314fs	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	314					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	TGATATTTGATTCTGTGGAGG	0.378																																																0													82	81	81					5																	131663087		2203	4300	6503	SO:0001589	frameshift_variant	6583			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.942delT	5.37:g.131663087delT	ENSP00000200652:p.Asp314fs		O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	CCDS4153.1																																																																																				0.378	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		-	131663087	T	-	131663087	7	5	183	1	0	1	0	1	0	0	0	0	14462	1490	52	0	960	0	SLC22A4	5	131663087	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	596382	131663087	49252173	208	10905											
FSTL4	23105	broad.mit.edu	37	5	132534947	132534947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:132534947delC	ENST00000265342.7	-	16	2618	c.2369delG	c.(2368-2370)ggtfs	p.G790fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	790						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGTGGGTACCCCCCCAGGG	0.597																																																0																																										SO:0001589	frameshift_variant	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2369delG	5.37:g.132534947delC	ENSP00000265342:p.Gly790fs		Q8TBU0|Q9UPU1	Frame_Shift_Del	DEL	ENST00000265342.7	37	CCDS34238.1																																																																																				0.597	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		-	132534947	C	-	132534947	7	5	183	1	0	1	0	1	0	0	0	0	6081	507	18	0	163	0	FSTL4	5	132534947	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	871860	132534947	48380313	209	10906											
SIL1	64374	broad.mit.edu	37	5	138456826	138456826	+	Missense_Mutation	SNP	T	T	C	rs185697854		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:138456826T>C	ENST00000394817.2	-	3	281	c.142A>G	c.(142-144)Acc>Gcc	p.T48A	SIL1_ENST00000265195.5_Missense_Mutation_p.T48A|SIL1_ENST00000509534.1_Missense_Mutation_p.T55A	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	48	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTTCTTTGGTGCTGCTCTTC	0.527									Marinesco-Sjgren syndrome																																							0													139	146	144					5																	138456826		2203	4300	6503	SO:0001583	missense	64374	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.142A>G	5.37:g.138456826T>C	ENSP00000378294:p.Thr48Ala		D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.060009	0.36373	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000508639;ENST00000513453;ENST00000507002;ENST00000505830;ENST00000505353	T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.02;-0.01;-0.01;-0.01;-0.01	5.19	2.72	0.32119	.	0.615629	0.15867	N	0.240710	T	0.34948	0.0915	N	0.03324	-0.35	0.09310	N	1	B;B	0.22683	0.073;0.073	B;B	0.25291	0.059;0.059	T	0.31586	-0.9938	10	0.06236	T	0.91	-2.4987	6.1199	0.20148	0.0:0.0871:0.1695:0.7434	.	55;48	D6REA1;Q9H173	.;SIL1_HUMAN	A	48;48;27;55;48;48;58;58;48	ENSP00000378294:T48A;ENSP00000265195:T48A;ENSP00000426858:T55A;ENSP00000427371:T48A;ENSP00000424014:T48A;ENSP00000421890:T58A;ENSP00000426460:T58A;ENSP00000423662:T48A	ENSP00000265195:T48A	T	-	1	0	SIL1	138484725	0.526000	0.26298	0.337000	0.25536	0.988000	0.76386	0.920000	0.28705	0.967000	0.38186	0.459000	0.35465	ACC		0.527	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		C	138456826	T	C	138456826	3	2	183	1	0	0	0	0	1	0	0	0	14327	1696	59	3	1275	3	SIL1	5	138456826	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	5921879	138456826	42458434	210	10907											
ANKHD1	54882	broad.mit.edu	37	5	139889312	139889312	+	Frame_Shift_Del	DEL	C	C	-	rs200829092	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:139889312delC	ENST00000360839.2	+	21	4010	c.3856delC	c.(3856-3858)cccfs	p.P1287fs	ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.P1287fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.P1287fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1287						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAATGCTCCCCCTGTGCC	0.438																																																0													103	94	97					5																	139889312		2203	4300	6503	SO:0001589	frameshift_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3856delC	5.37:g.139889312delC	ENSP00000354085:p.Pro1287fs		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	CCDS4225.1																																																																																				0.438	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		-	139889312	C	-	139889312	7	5	183	1	0	1	0	1	0	0	0	0	628	855	30	0	4044	0	ANKHD1	5	139889312	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	1432486	139889312	41025948	211	10908											
PCDHA2	56146	broad.mit.edu	37	5	140176930	140176930	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140176930T>C	ENST00000526136.1	+	1	2381	c.2381T>C	c.(2380-2382)gTa>gCa	p.V794A	PCDHA2_ENST00000378132.1_Missense_Mutation_p.V794A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V794A	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	794	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAATACGTAGGAAAGGTG	0.403																																																0													38	43	41					5																	140176930		2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2381T>C	5.37:g.140176930T>C	ENSP00000431748:p.Val794Ala		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	t	0.530	-0.858303	0.02610	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.49139	0.86;0.79;2.84	4.61	2.17	0.27698	.	1.950890	0.03825	U	0.268099	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B;B;B	0.13145	0.007;0.002;0.0	B;B;B	0.19666	0.026;0.005;0.001	T	0.30504	-0.9976	10	0.02654	T	1	.	2.736	0.05240	0.0:0.2796:0.2404:0.48	.	794;794;794	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	A	794	ENSP00000430584:V794A;ENSP00000367372:V794A;ENSP00000431748:V794A	ENSP00000367372:V794A	V	+	2	0	PCDHA2	140157114	0.000000	0.05858	0.002000	0.10522	0.222000	0.24845	0.501000	0.22578	0.596000	0.29794	0.482000	0.46254	GTA		0.403	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		C	140176930	T	C	140176930	3	2	183	1	0	0	0	0	1	0	0	0	11526	1638	57	3	2383	3	PCDHA2	5	140176930	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	287618	140176930	40738330	212	10909											
PCDHA11	56138	broad.mit.edu	37	5	140250117	140250117	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140250117T>C	ENST00000398640.2	+	1	1429	c.1429T>C	c.(1429-1431)Tcg>Ccg	p.S477P	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	477	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCACAGTGTCGGCGCGGGA	0.662																																																0													99	104	102					5																	140250117		2203	4300	6503	SO:0001583	missense	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1429T>C	5.37:g.140250117T>C	ENSP00000381636:p.Ser477Pro		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.820466	0.32145	.	.	ENSG00000249158	ENST00000398640	T	0.53423	0.62	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77745	0.4176	H	0.95574	3.69	0.23254	N	0.998033	D;D	0.67145	0.995;0.996	D;D	0.69142	0.921;0.962	T	0.75042	-0.3457	9	0.87932	D	0	.	15.4101	0.74911	0.0:0.0:0.0:1.0	.	477;477	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	P	477	ENSP00000381636:S477P	ENSP00000381636:S477P	S	+	1	0	PCDHA11	140230301	0.003000	0.15002	0.746000	0.31095	0.005000	0.04900	0.609000	0.24238	2.116000	0.64780	0.454000	0.30748	TCG		0.662	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		C	140250117	T	C	140250117	3	2	183	1	0	0	0	0	1	0	0	0	11523	1667	58	3	1431	3	PCDHA11	5	140250117	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	73187	140250117	40665143	213	10910											
PCDHB7	56129	broad.mit.edu	37	5	140554720	140554720	+	Silent	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140554720T>A	ENST00000231137.3	+	1	2478	c.2304T>A	c.(2302-2304)atT>atA	p.I768I	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	768					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAACCAATTATCCCCAACC	0.488																																																0													79	117	104					5																	140554720		2203	4300	6503	SO:0001819	synonymous_variant	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2304T>A	5.37:g.140554720T>A			A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																				0.488	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140554720	T	A	140554720	2	1	183	1	0	0	0	0	0	0	0	1	11549	1742	61	5		5	PCDHB7	5	140554720	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	304603	140554720	40360540	214	10911	83	3									
PCDHB7	56129	broad.mit.edu	37	5	140554722	140554722	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140554722T>A	ENST00000231137.3	+	1	2480	c.2306T>A	c.(2305-2307)aTc>aAc	p.I769N	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	769					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACCAATTATCCCCAACCTG	0.493																																																0													78	115	103					5																	140554722		2203	4300	6503	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2306T>A	5.37:g.140554722T>A	ENSP00000231137:p.Ile769Asn		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.470815	0.26423	.	.	ENSG00000113212	ENST00000231137	T	0.16073	2.37	4.33	1.85	0.25348	.	.	.	.	.	T	0.17365	0.0417	L	0.58302	1.8	0.09310	N	1	P	0.36909	0.573	B	0.38500	0.275	T	0.15809	-1.0424	9	0.46703	T	0.11	.	5.4048	0.16316	0.1548:0.0893:0.0:0.7558	.	769	Q9Y5E2	PCDB7_HUMAN	N	769	ENSP00000231137:I769N	ENSP00000231137:I769N	I	+	2	0	PCDHB7	140534906	0.018000	0.18449	0.000000	0.03702	0.102000	0.19082	1.131000	0.31406	0.155000	0.19261	0.374000	0.22700	ATC		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140554722	T	A	140554722	3	1	183	1	0	0	0	0	1	0	0	0	11549	1435	50	5	2308	5	PCDHB7	5	140554722	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2	140554722	40360538	215	10912	83	3									
PCDHB7	56129	broad.mit.edu	37	5	140554727	140554727	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140554727A>C	ENST00000231137.3	+	1	2485	c.2311A>C	c.(2311-2313)Aac>Cac	p.N771H	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	771					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATTATCCCCAACCTGCTACC	0.493																																																0													76	112	99					5																	140554727		2203	4300	6503	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2311A>C	5.37:g.140554727A>C	ENSP00000231137:p.Asn771His		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594197	0.28445	.	.	ENSG00000113212	ENST00000231137	T	0.18502	2.21	4.09	4.09	0.47781	.	.	.	.	.	T	0.23289	0.0563	M	0.81341	2.54	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.13442	-1.0509	9	0.54805	T	0.06	.	8.7051	0.34349	0.9065:0.0:0.0935:0.0	.	771	Q9Y5E2	PCDB7_HUMAN	H	771	ENSP00000231137:N771H	ENSP00000231137:N771H	N	+	1	0	PCDHB7	140534911	0.002000	0.14202	0.002000	0.10522	0.088000	0.18126	2.066000	0.41452	1.617000	0.50277	0.374000	0.22700	AAC		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		C	140554727	A	C	140554727	3	2	183	1	0	0	0	0	1	0	0	0	11549	130	5	5	2313	5	PCDHB7	5	140554727	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	5	140554727	40360533	216	10913	83	3									
PCDHGA3	56112	broad.mit.edu	37	5	140725001	140725001	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140725001A>T	ENST00000253812.6	+	1	1401	c.1401A>T	c.(1399-1401)agA>agT	p.R467S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	467	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(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCCCAGAGGAGCCTCCA	0.537																																																0													117	132	127					5																	140725001		2125	4271	6396	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1401A>T	5.37:g.140725001A>T	ENSP00000253812:p.Arg467Ser		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	15.13	2.741827	0.49151	.	.	ENSG00000254245	ENST00000253812	T	0.49139	0.79	5.36	1.78E-5	0.14040	Cadherin (3);Cadherin-like (1);	0.000000	0.36167	U	0.002754	T	0.48554	0.1506	L	0.47190	1.495	0.27358	N	0.956048	D;P	0.59357	0.985;0.848	P;P	0.58721	0.844;0.669	T	0.41197	-0.9522	10	0.30854	T	0.27	.	7.6172	0.28165	0.2904:0.0:0.5705:0.1391	.	467;467	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	S	467	ENSP00000253812:R467S	ENSP00000253812:R467S	R	+	3	2	PCDHGA3	140705185	0.000000	0.05858	0.988000	0.46212	0.992000	0.81027	-0.492000	0.06467	0.052000	0.16007	0.460000	0.39030	AGA		0.537	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725001	A	T	140725001	3	4	183	1	0	0	0	0	1	0	0	0	11557	301	11	5	1403	5	PCDHGA3	5	140725001	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	170274	140725001	40190259	217	10914											
PCDHGA7	56108	broad.mit.edu	37	5	140762925	140762925	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:140762925G>A	ENST00000518325.1	+	1	459	c.459G>A	c.(457-459)ccG>ccA	p.P153P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	153	Cadherin 2. {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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGTTTCCGTTAAGCGAGG	0.478																																																0													42	48	46					5																	140762925		1980	4162	6142	SO:0001819	synonymous_variant	56108			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.459G>A	5.37:g.140762925G>A			B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	CCDS54927.1																																																																																				0.478	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		A	140762925	G	A	140762925	2	1	183	1	0	0	0	0	0	0	0	1	11561	1132	40	1		1	PCDHGA7	5	140762925	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	37924	140762925	40152335	218	10915											
RNF14	9604	broad.mit.edu	37	5	141357883	141357883	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:141357883A>G	ENST00000394520.2	+	5	631	c.322A>G	c.(322-324)Aag>Gag	p.K108E	RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Missense_Mutation_p.K108E|RNF14_ENST00000347642.3_Missense_Mutation_p.K108E|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000356143.1_Missense_Mutation_p.K108E|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	108	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGCTCTATGCAAGCACTTAGA	0.448																																																0													106	98	101					5																	141357883		2203	4300	6503	SO:0001583	missense	9604			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.322A>G	5.37:g.141357883A>G	ENSP00000378028:p.Lys108Glu		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451499	0.43531	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000507163;ENST00000394519	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.49	3.11	0.35812	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.230223	0.52532	N	0.000077	T	0.29288	0.0729	L	0.37697	1.125	0.38301	D	0.942984	B	0.30361	0.277	B	0.36378	0.223	T	0.08411	-1.0723	10	0.11182	T	0.66	.	5.8375	0.18615	0.7158:0.1402:0.1441:0.0	.	108	Q9UBS8	RNF14_HUMAN	E	108	ENSP00000423420:K108E;ENSP00000423273:K108E;ENSP00000348462:K108E;ENSP00000378028:K108E;ENSP00000324956:K108E;ENSP00000420837:K108E;ENSP00000422527:K108E;ENSP00000378027:K108E	ENSP00000324956:K108E	K	+	1	0	RNF14	141338067	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.947000	0.49058	0.398000	0.25338	0.460000	0.39030	AAG		0.448	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		G	141357883	A	G	141357883	3	3	183	1	0	0	0	0	1	0	0	0	13449	131	5	3	332	3	RNF14	5	141357883	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	594958	141357883	39557377	219	10916											
ANXA6	309	broad.mit.edu	37	5	150519732	150519732	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:150519732T>C	ENST00000354546.5	-	3	318	c.91A>G	c.(91-93)Act>Gct	p.T31A	ANXA6_ENST00000521512.1_Missense_Mutation_p.T31A|ANXA6_ENST00000377751.5_Missense_Mutation_p.T31A|ANXA6_ENST00000523714.1_5'UTR|ANXA6_ENST00000356496.5_Missense_Mutation_p.T31A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	31					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGGCAGTGTACAGAGCC	0.577																																																0													49	54	52					5																	150519732		1908	4111	6019	SO:0001583	missense	309			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.91A>G	5.37:g.150519732T>C	ENSP00000346550:p.Thr31Ala		B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714340	0.48622	.	.	ENSG00000197043	ENST00000354546;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000517486;ENST00000523164	T;T;T;T;T;T	0.10860	2.83;4.25;2.83;3.61;3.61;3.61	5.19	3.99	0.46301	.	0.328094	0.34828	N	0.003660	T	0.05364	0.0142	N	0.03983	-0.305	0.32612	N	0.524484	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.15484	0.002;0.013;0.013	T	0.06041	-1.0849	10	0.87932	D	0	.	10.2594	0.43416	0.1486:0.0:0.0:0.8514	.	31;31;31	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	A	31	ENSP00000346550:T31A;ENSP00000366980:T31A;ENSP00000348889:T31A;ENSP00000430420:T31A;ENSP00000428916:T31A;ENSP00000431078:T31A	ENSP00000346550:T31A	T	-	1	0	ANXA6	150499925	1.000000	0.71417	0.680000	0.29994	0.844000	0.47949	5.207000	0.65197	0.768000	0.33290	0.459000	0.35465	ACT		0.577	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		C	150519732	T	C	150519732	3	2	183	1	0	0	0	0	1	0	0	0	722	1696	59	3	2026	3	ANXA6	5	150519732	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	9161849	150519732	30395528	220	10917											
G3BP1	10146	broad.mit.edu	37	5	151183518	151183518	+	Nonsense_Mutation	SNP	C	C	T	rs140218237		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:151183518C>T	ENST00000394123.3	+	12	1412	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	G3BP1_ENST00000356245.3_Nonsense_Mutation_p.R423*|G3BP1_ENST00000543466.1_Nonsense_Mutation_p.R241*			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	423					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.R423*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GGAAGGCGACCGACGAGATAA	0.572																																																1	Substitution - Nonsense(1)	skin(1)											84	87	86					5																	151183518		2203	4300	6503	SO:0001587	stop_gained	10146			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1267C>T	5.37:g.151183518C>T	ENSP00000377681:p.Arg423*		Q5HYE9	Nonsense_Mutation	SNP	ENST00000394123.3	37	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	C	36	5.736797	0.96865	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	.	.	.	5.36	5.36	0.76844	.	0.048447	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2203	19.4633	0.94927	0.0:1.0:0.0:0.0	.	.	.	.	X	423;241;423;265	.	ENSP00000274596:R265X	R	+	1	2	G3BP1	151163711	1.000000	0.71417	0.944000	0.38274	0.992000	0.81027	4.109000	0.57824	2.666000	0.90696	0.655000	0.94253	CGA		0.572	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		T	151183518	C	T	151183518	4	4	183	1	0	0	0	0	0	1	0	0	6143	644	23	1	1309	1	G3BP1	5	151183518	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	663786	151183518	29731742	221	10918											
GLRA1	2741	broad.mit.edu	37	5	151239530	151239530	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:151239530C>A	ENST00000455880.2	-	4	578	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	GLRA1_ENST00000545569.1_Missense_Mutation_p.D15Y|GLRA1_ENST00000274576.4_Missense_Mutation_p.D98Y|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	98					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGCGGGGGTCGTTCCATTGC	0.517																																																0													77	81	80					5																	151239530		2203	4300	6503	SO:0001583	missense	2741				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.292G>T	5.37:g.151239530C>A	ENSP00000411593:p.Asp98Tyr		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766820	0.90020	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.93763	-3.28;-3.28;-3.28	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel ligand-binding (3);	0.148304	0.64402	D	0.000017	D	0.98298	0.9436	H	0.98407	4.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.988	D	0.99425	1.0934	10	0.87932	D	0	.	19.5013	0.95095	0.0:1.0:0.0:0.0	.	98;15;98	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	Y	98;98;15	ENSP00000274576:D98Y;ENSP00000411593:D98Y;ENSP00000445913:D15Y	ENSP00000274576:D98Y	D	-	1	0	GLRA1	151219723	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	7.616000	0.83018	2.677000	0.91161	0.563000	0.77884	GAC		0.517	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			A	151239530	C	A	151239530	3	1	183	1	0	0	0	0	1	0	0	0	6456	884	31	4	1105	4	GLRA1	5	151239530	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	56012	151239530	29675730	222	10919											
GEMIN5	25929	broad.mit.edu	37	5	154268882	154268882	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:154268882T>C	ENST00000285873.7	-	27	4433	c.4358A>G	c.(4357-4359)aAg>aGg	p.K1453R		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1453					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACTCTTACCTTAATGCTCTC	0.378																																																0													123	114	117					5																	154268882		2203	4300	6503	SO:0001630	splice_region_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4359+1A>G	5.37:g.154268882T>C			Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Splice_Site	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755960	0.69648	.	.	ENSG00000082516	ENST00000285873	T	0.74632	-0.86	5.91	5.91	0.95273	.	0.111728	0.64402	D	0.000009	D	0.82779	0.5111	L	0.55103	1.725	0.45733	D	0.99863	D;D	0.71674	0.998;0.998	D;D	0.77004	0.989;0.989	T	0.82508	-0.0422	10	0.44086	T	0.13	-21.622	14.5767	0.68252	0.0:0.0:0.0:1.0	.	1452;1453	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	R	1453	ENSP00000285873:K1453R	ENSP00000285873:K1453R	K	-	2	0	GEMIN5	154249075	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.552000	0.60747	2.263000	0.75096	0.528000	0.53228	AAG		0.378	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		Missense_Mutation	C	154268882	T	C	154268882	5	2	183	1	0	0	0	0	0	0	1	0	6333	1623	56	3	176	3	GEMIN5	5	154268882	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	3029352	154268882	26646378	223	10920											
ODZ2	57451	broad.mit.edu	37	5	167654954	167654954	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:167654954A>G	ENST00000518659.1	+	25	5378	c.5339A>G	c.(5338-5340)tAt>tGt	p.Y1780C	TENM2_ENST00000520394.1_Missense_Mutation_p.Y1541C|TENM2_ENST00000403607.2_Missense_Mutation_p.Y1604C|TENM2_ENST00000519204.1_Missense_Mutation_p.Y1659C|TENM2_ENST00000545108.1_Missense_Mutation_p.Y1779C|CTB-178M22.2_ENST00000519795.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1780					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGGGTGATGTATGCTAATGGG	0.517																																																0													65	65	65					5																	167654954		1972	4170	6142	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5339A>G	5.37:g.167654954A>G	ENSP00000429430:p.Tyr1780Cys		Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	A	20.9	4.072892	0.76415	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89810	-2.1;-2.09;-2.2;-2.55;-2.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.93983	0.8073	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.987;0.971;0.997	D	0.93896	0.7184	10	0.48119	T	0.1	.	15.8895	0.79286	1.0:0.0:0.0:0.0	.	1779;1780;1541	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	1780;1779;1659;1541;1604	ENSP00000429430:Y1780C;ENSP00000438635:Y1779C;ENSP00000428964:Y1659C;ENSP00000427874:Y1541C;ENSP00000384905:Y1604C	ENSP00000384905:Y1604C	Y	+	2	0	ODZ2	167587532	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.500000	0.81588	2.153000	0.67306	0.459000	0.35465	TAT		0.517	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		G	167654954	A	G	167654954	3	3	183	1	0	0	0	0	1	0	0	0	10837	449	16	3	5410	3	ODZ2	5	167654954	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	13386072	167654954	13260306	224	10921											
CPEB4	80315	broad.mit.edu	37	5	173370038	173370038	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:173370038A>G	ENST00000265085.5	+	4	2722	c.1268A>G	c.(1267-1269)tAt>tGt	p.Y423C	CPEB4_ENST00000517880.1_Intron|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.Y406C|CPEB4_ENST00000520867.1_Intron|CPEB4_ENST00000519835.1_Intron|CPEB4_ENST00000522336.1_Intron	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	423					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCAAGGACATATGGGCGAAGG	0.348																																																0													186	194	191					5																	173370038		2203	4300	6503	SO:0001583	missense	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1268A>G	5.37:g.173370038A>G	ENSP00000265085:p.Tyr423Cys		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332289	0.81801	.	.	ENSG00000113742	ENST00000265085;ENST00000334035	T;T	0.48201	0.82;0.82	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.971	T	0.64356	-0.6427	10	0.56958	D	0.05	-18.6823	16.2484	0.82467	1.0:0.0:0.0:0.0	.	406;423	Q17RY0-2;Q17RY0	.;CPEB4_HUMAN	C	423;406	ENSP00000265085:Y423C;ENSP00000334533:Y406C	ENSP00000265085:Y423C	Y	+	2	0	CPEB4	173302644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.248000	0.95456	2.291000	0.77112	0.533000	0.62120	TAT		0.348	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		G	173370038	A	G	173370038	3	3	183	1	0	0	0	0	1	0	0	0	3805	449	16	3	1282	3	CPEB4	5	173370038	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	5715084	173370038	7545222	225	10922											
GRK6	2870	broad.mit.edu	37	5	176868029	176868029	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:176868029T>C	ENST00000355472.5	+	15	1820	c.1652T>C	c.(1651-1653)cTg>cCg	p.L551P	GRK6_ENST00000393576.3_Missense_Mutation_p.L517P|GRK6_ENST00000528793.1_Missense_Mutation_p.L551P|GRK6_ENST00000355958.5_Missense_Mutation_p.L551P|PRR7-AS1_ENST00000425316.3_RNA|PRR7-AS1_ENST00000511565.1_RNA|PRR7-AS1_ENST00000514846.1_RNA	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	551					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAAAGGGACTGCTGCAGAGA	0.627																																																0													31	32	32					5																	176868029		2203	4300	6503	SO:0001583	missense	2870				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1652T>C	5.37:g.176868029T>C	ENSP00000347655:p.Leu551Pro		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158332	0.78114	.	.	ENSG00000198055	ENST00000355472;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T	0.74947	-0.56;-0.89;-0.58;-0.58	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	D	0.85626	0.5740	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.997	D	0.87364	0.2346	10	0.72032	D	0.01	-23.085	15.0826	0.72127	0.0:0.0:0.0:1.0	.	551;521;551	P43250;B3KPS5;P43250-2	GRK6_HUMAN;.;.	P	551;517;551;551	ENSP00000347655:L551P;ENSP00000377204:L517P;ENSP00000348230:L551P;ENSP00000433511:L551P	ENSP00000347655:L551P	L	+	2	0	GRK6	176800635	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.073000	0.71245	2.040000	0.60383	0.533000	0.62120	CTG		0.627	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		C	176868029	T	C	176868029	3	2	183	1	0	0	0	0	1	0	0	0	6795	1580	55	3	1710	3	GRK6	5	176868029	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	3497991	176868029	4047231	226	10923											
RMND5B	64777	broad.mit.edu	37	5	177575020	177575020	+	Missense_Mutation	SNP	G	G	A	rs200559247	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:177575020G>A	ENST00000515098.1	+	12	1520	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	RMND5B_ENST00000313386.4_Missense_Mutation_p.R390H|RMND5B_ENST00000542098.1_Missense_Mutation_p.R377H			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	390								p.R390H(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGGAAACGCATCATATTC	0.532													G|||	4	0.000798722	0.0	0.0	5008	,	,		20361	0.004		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	large_intestine(1)											86	81	83					5																	177575020		2203	4300	6503	SO:0001583	missense	64777			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.1169G>A	5.37:g.177575020G>A	ENSP00000420875:p.Arg390His		Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981874	0.53827	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.51	5.51	0.81932	.	0.063089	0.64402	D	0.000002	T	0.62036	0.2395	M	0.61703	1.905	0.47547	D	0.999451	D;D;B	0.64830	0.989;0.994;0.221	B;P;B	0.50617	0.443;0.646;0.023	T	0.65928	-0.6049	9	0.66056	D	0.02	-23.0526	10.3737	0.44068	0.0887:0.0:0.9113:0.0	.	377;377;390	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	H	390;390;377	.	ENSP00000320623:R390H	R	+	2	0	RMND5B	177507626	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.490000	0.60319	2.595000	0.87683	0.563000	0.77884	CGC		0.532	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		A	177575020	G	A	177575020	3	1	183	1	0	0	0	0	1	0	0	0	13404	1087	38	1	1203	1	RMND5B	5	177575020	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	706991	177575020	3340240	227	10924											
CLK4	57396	broad.mit.edu	37	5	178044364	178044364	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:178044364T>C	ENST00000316308.4	-	4	624	c.456A>G	c.(454-456)ggA>ggG	p.G152G	CLK4_ENST00000522749.1_Intron|RN7SKP70_ENST00000516655.1_RNA	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	152					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTAGAACGTCTCCACTTTGAC	0.418																																																0													119	105	110					5																	178044364		2203	4300	6503	SO:0001819	synonymous_variant	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.456A>G	5.37:g.178044364T>C				Silent	SNP	ENST00000316308.4	37	CCDS4437.1																																																																																				0.418	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			C	178044364	T	C	178044364	2	2	183	1	0	0	0	0	0	0	0	1	3541	1538	54	3		3	CLK4	5	178044364	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	469344	178044364	2870896	228	10925											
ZNF354A	6940	broad.mit.edu	37	5	178139363	178139363	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr5:178139363T>A	ENST00000335815.2	-	5	1713	c.1516A>T	c.(1516-1518)Aac>Tac	p.N506Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	506					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AGTGATGAGTTACACCTGAAT	0.398																																																0													119	116	117					5																	178139363		2203	4300	6503	SO:0001583	missense	6940			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1516A>T	5.37:g.178139363T>A	ENSP00000337122:p.Asn506Tyr		Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	T	2.862	-0.235905	0.05944	.	.	ENSG00000169131	ENST00000335815	T	0.01051	5.4	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	N	0.003041	T	0.04003	0.0112	L	0.41710	1.295	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.31223	-0.9951	10	0.62326	D	0.03	-15.8272	13.1647	0.59565	0.0:0.0:0.0:1.0	.	506	O60765	Z354A_HUMAN	Y	506	ENSP00000337122:N506Y	ENSP00000337122:N506Y	N	-	1	0	ZNF354A	178071969	0.000000	0.05858	1.000000	0.80357	0.973000	0.67179	-0.142000	0.10311	2.210000	0.71456	0.528000	0.53228	AAC		0.398	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		A	178139363	T	A	178139363	3	1	183	1	0	0	0	0	1	0	0	0	17869	1754	61	5	305	5	ZNF354A	5	178139363	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	94999	178139363	2775897	229	10926											
MYLK4	340156	broad.mit.edu	37	6	2689172	2689172	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:2689172G>A	ENST00000274643.7	-	4	596	c.254C>T	c.(253-255)cCg>cTg	p.P85L	MYLK4_ENST00000268446.5_Missense_Mutation_p.P85L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	85						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AAATGGGGCCGGAGGAGCCGG	0.502																																																0													119	128	125					6																	2689172		2203	4300	6503	SO:0001583	missense	340156				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.254C>T	6.37:g.2689172G>A	ENSP00000274643:p.Pro85Leu		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239084	0.39598	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.68181	0.01;-0.31	5.23	5.23	0.72850	.	0.318740	0.22054	N	0.065265	T	0.52141	0.1716	L	0.52011	1.625	0.47819	D	0.999527	B	0.27679	0.185	B	0.20577	0.03	T	0.58335	-0.7654	10	0.87932	D	0	.	18.1489	0.89668	0.0:0.0:1.0:0.0	.	85	Q86YV6	MYLK4_HUMAN	L	85	ENSP00000268446:P85L;ENSP00000274643:P85L	ENSP00000268446:P85L	P	-	2	0	MYLK4	2634171	0.998000	0.40836	0.995000	0.50966	0.141000	0.21300	6.631000	0.74277	2.610000	0.88304	0.655000	0.94253	CCG		0.502	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		A	2689172	G	A	2689172	3	1	183	1	0	0	0	0	1	0	0	0	10061	1116	39	1	948	1	MYLK4	6	2689172	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08		2689172	168425895	230	10927											
RREB1	6239	broad.mit.edu	37	6	7230314	7230314	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:7230314A>G	ENST00000349384.6	+	10	2296	c.1982A>G	c.(1981-1983)cAc>cGc	p.H661R	RREB1_ENST00000334984.6_Missense_Mutation_p.H661R|RREB1_ENST00000379933.3_Missense_Mutation_p.H661R|RREB1_ENST00000379938.2_Missense_Mutation_p.H661R	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	661					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TTGCGTGCCCACGTGCGCTCC	0.662																																																0													45	42	43					6																	7230314		2203	4299	6502	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1982A>G	6.37:g.7230314A>G	ENSP00000305560:p.His661Arg		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523765	0.64747	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.63307	0.2500	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.91635	0.993;0.996;0.999	T	0.74166	-0.3753	10	0.87932	D	0	-48.3934	15.3726	0.74577	1.0:0.0:0.0:0.0	.	661;661;661	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	R	661	ENSP00000369265:H661R;ENSP00000369270:H661R;ENSP00000305560:H661R;ENSP00000335574:H661R;ENSP00000419511:H661R	ENSP00000335574:H661R	H	+	2	0	RREB1	7175313	1.000000	0.71417	0.956000	0.39512	0.631000	0.37964	8.885000	0.92439	2.209000	0.71365	0.533000	0.62120	CAC		0.662	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			G	7230314	A	G	7230314	3	3	183	1	0	0	0	0	1	0	0	0	13685	159	6	3	2008	3	RREB1	6	7230314	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	4541142	7230314	163884753	231	10928											
CAGE1	285782	broad.mit.edu	37	6	7334269	7334269	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:7334269T>C	ENST00000512086.1	-	10	2440	c.2238A>G	c.(2236-2238)aaA>aaG	p.K746K	CAGE1_ENST00000502583.1_Silent_p.K808K|CAGE1_ENST00000379918.4_Silent_p.K786K|SSR1_ENST00000488834.1_5'UTR|CAGE1_ENST00000296742.7_Silent_p.K610K|CAGE1_ENST00000338150.4_Silent_p.K773K			Q8TC20	CAGE1_HUMAN	cancer antigen 1	746										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GTTTTCTGGCTTTTTCTCTGG	0.323																																																0													48	42	44					6																	7334269		1761	3987	5748	SO:0001819	synonymous_variant	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.2238A>G	6.37:g.7334269T>C			D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Silent	SNP	ENST00000512086.1	37																																																																																					0.323	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		C	7334269	T	C	7334269	2	2	183	1	0	0	0	0	0	0	0	1	2574	1606	56	3		3	CAGE1	6	7334269	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	103955	7334269	163780798	232	10929											
DSP	1832	broad.mit.edu	37	6	7583192	7583192	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:7583192C>A	ENST00000379802.3	+	24	6038	c.5697C>A	c.(5695-5697)atC>atA	p.I1899I	DSP_ENST00000418664.2_Silent_p.I1300I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1899	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGAGTGAGATCGAAAGACTCC	0.458																																																0													80	84	83					6																	7583192		2203	4300	6503	SO:0001819	synonymous_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5697C>A	6.37:g.7583192C>A			B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																				0.458	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7583192	C	A	7583192	2	1	183	1	0	0	0	0	0	0	0	1	4783	874	31	4		4	DSP	6	7583192	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	248923	7583192	163531875	233	10930											
ATXN1	6310	broad.mit.edu	37	6	16328183	16328183	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:16328183T>C	ENST00000244769.4	-	8	1295	c.359A>G	c.(358-360)tAc>tGc	p.Y120C	ATXN1_ENST00000436367.1_Missense_Mutation_p.Y120C	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	120					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CAGGTGAGCGTACTGCACGGG	0.662																																																0													58	60	60					6																	16328183		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.359A>G	6.37:g.16328183T>C	ENSP00000244769:p.Tyr120Cys		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813632	0.70912	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	D;D	0.82081	-1.57;-1.57	5.11	3.87	0.44632	.	0.058149	0.64402	D	0.000001	D	0.86431	0.5931	M	0.71581	2.175	0.58432	D	0.999997	D	0.89917	1.0	D	0.71184	0.972	D	0.87944	0.2719	10	0.87932	D	0	-19.1625	10.8066	0.46520	0.1417:0.0:0.0:0.8583	.	120	P54253	ATX1_HUMAN	C	120	ENSP00000244769:Y120C;ENSP00000416360:Y120C	ENSP00000244769:Y120C	Y	-	2	0	ATXN1	16436162	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.670000	0.54569	1.925000	0.55765	0.383000	0.25322	TAC		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		C	16328183	T	C	16328183	3	2	183	1	0	0	0	0	1	0	0	0	1209	1638	57	3	2096	3	ATXN1	6	16328183	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	8744991	16328183	154786884	234	10931											
MBOAT1	154141	broad.mit.edu	37	6	20151474	20151475	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:20151474_20151475insA	ENST00000324607.7	-	3	428_429	c.264_265insT	c.(262-267)tttgtgfs	p.V89fs	MBOAT1_ENST00000536798.1_Frame_Shift_Ins_p.V89fs|MBOAT1_ENST00000541730.1_5'UTR	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	89					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AACACCAGCACAAAAAGATGCA	0.371																																																0																																										SO:0001589	frameshift_variant	154141			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.265dupT	6.37:g.20151479_20151479dupA	ENSP00000324944:p.Val89fs		A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Frame_Shift_Ins	INS	ENST00000324607.7	37	CCDS34346.1																																																																																				0.371	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			A	20151475	-	A	20151474	7	5	183	1	0	1	1	0	0	0	0	0	9358	478	17	0	1266	0	MBOAT1	6	20151474	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	3823291	20151474	150963593	235	10932											
CDKAL1	54901	broad.mit.edu	37	6	21231246	21231246	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:21231246delT	ENST00000378610.1	+	14	1726	c.1716delT	c.(1714-1716)gctfs	p.A572fs	CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378624.4_Frame_Shift_Del_p.A481fs|CDKAL1_ENST00000274695.4_Frame_Shift_Del_p.A572fs			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	572					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTCTTTTTGCTTTTTTTGTCA	0.413																																																0													114	116	115					6																	21231246		2203	4300	6503	SO:0001589	frameshift_variant	54901			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1716delT	6.37:g.21231246delT	ENSP00000367873:p.Ala572fs		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Frame_Shift_Del	DEL	ENST00000378610.1	37	CCDS4546.1																																																																																				0.413	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		-	21231246	T	-	21231246	7	5	183	1	0	1	0	1	0	0	0	0	3154	1596	56	0	1770	0	CDKAL1	6	21231246	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	1079772	21231246	149883821	236	10933											
KIAA0319	9856	broad.mit.edu	37	6	24559327	24559327	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:24559327G>A	ENST00000378214.3	-	17	3172	c.2648C>T	c.(2647-2649)gCt>gTt	p.A883V	KIAA0319_ENST00000430948.2_Missense_Mutation_p.A838V|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A874V|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A883V|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A883V	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	883					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGCCACTTCAGCAGCTTTGAG	0.507																																																0													75	66	69					6																	24559327		2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2648C>T	6.37:g.24559327G>A	ENSP00000367459:p.Ala883Val		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291661	0.23564	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	3.94	3.94	0.45596	.	0.137175	0.49916	D	0.000128	T	0.08223	0.0205	L	0.50333	1.59	0.30371	N	0.782911	B;D;D	0.58268	0.275;0.971;0.982	B;P;P	0.55749	0.067;0.783;0.612	T	0.18555	-1.0333	10	0.15066	T	0.55	-17.5952	16.5743	0.84633	0.0:0.0:1.0:0.0	.	883;874;883	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	V	883;874;838;883;883	ENSP00000439700:A883V;ENSP00000442403:A874V;ENSP00000401086:A838V;ENSP00000367459:A883V;ENSP00000437656:A883V	ENSP00000367459:A883V	A	-	2	0	KIAA0319	24667306	0.999000	0.42202	0.883000	0.34634	0.996000	0.88848	3.302000	0.51849	2.184000	0.69523	0.650000	0.86243	GCT		0.507	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		A	24559327	G	A	24559327	3	1	183	1	0	0	0	0	1	0	0	0	8170	971	34	2	590	2	KIAA0319	6	24559327	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	3328081	24559327	146555740	237	10934											
HIST1H2AC	8334	broad.mit.edu	37	6	26124633	26124633	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:26124633A>G	ENST00000602637.1	+	1	203	c.173A>G	c.(172-174)tAc>tGc	p.Y58C	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.Y58C|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	58						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GTGTTAGAGTACCTGACCGCC	0.667																																																0													53	54	53					6																	26124633		2203	4300	6503	SO:0001583	missense	8334			Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"Histones / Replication-dependent"	4733	protein-coding gene	gene with protein product		602794	"H2A histone family, member L", "histone 1, H2ac"	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.173A>G	6.37:g.26124633A>G	ENSP00000473534:p.Tyr58Cys		B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.099502	0.76983	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.70516	-0.49;-0.49	5.78	5.78	0.91487	Histone-fold (2);Histone core (1);Histone H2A (3);	0.000000	0.40469	N	0.001093	D	0.88955	0.6578	H	0.97940	4.11	0.48975	D	0.999732	D	0.89917	1.0	D	0.97110	1.0	D	0.92870	0.6313	10	0.87932	D	0	.	15.5859	0.76482	1.0:0.0:0.0:0.0	.	58	Q93077	H2A1C_HUMAN	C	58	ENSP00000367022:Y58C;ENSP00000321389:Y58C	ENSP00000321389:Y58C	Y	+	2	0	HIST1H2AC	26232612	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.985000	0.93487	2.333000	0.79357	0.482000	0.46254	TAC		0.667	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		G	26124633	A	G	26124633	3	3	183	1	0	0	0	0	1	0	0	0	7132	391	14	3	175	3	HIST1H2AC	6	26124633	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1565306	26124633	144990434	238	10935											
HIST1H2BJ	8970	broad.mit.edu	37	6	27100491	27100491	+	Silent	SNP	C	C	T	rs201335271		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:27100491C>T	ENST00000607124.1	-	1	38	c.39G>A	c.(37-39)aaG>aaA	p.K13K	HIST1H2BJ_ENST00000541790.1_Silent_p.K13K|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Silent_p.K13K			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	13					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						TCTTGGAGCCCTTTTTCGGGG	0.532																																																0													83	85	84					6																	27100491		2203	4300	6503	SO:0001819	synonymous_variant	8970			X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.39G>A	6.37:g.27100491C>T			B2R4J4|O60816	Silent	SNP	ENST00000607124.1	37	CCDS4618.1																																																																																				0.532	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		T	27100491	C	T	27100491	2	4	183	1	0	0	0	0	0	0	0	1	7151	680	24	2		2	HIST1H2BJ	6	27100491	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	975858	27100491	144014576	239	10936											
PPP1R10	5514	broad.mit.edu	37	6	30570264	30570266	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:30570264_30570266delGGA	ENST00000376511.2	-	19	2712_2714	c.2160_2162delTCC	c.(2158-2163)cctcca>cca	p.720_721PP>P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	720	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTCGGAATggaggaggaggag	0.67																																																0										21,3195		2,17,1589						-7.6	0.5			35	55,6059		6,43,3008	no	coding	PPP1R10	NM_002714.2		8,60,4597	A1A1,A1R,RR		0.8996,0.653,0.8146				76,9254				SO:0001651	inframe_deletion	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2160_2162delTCC	6.37:g.30570273_30570275delGGA	ENSP00000365694:p.Pro721del		O00405	In_Frame_Del	DEL	ENST00000376511.2	37	CCDS4681.1																																																																																				0.67	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		-	30570266	GGA	-	30570264	7	5	183	1	0	1	0	1	0	0	0	0	12357	1348	47	0	668	0	PPP1R10	6	30570264	In_Frame_Del	DEL	GGA	TCGA-B0-5098-01A-01D-1421-08	3469773	30570264	140544803	240	10937											
TUBB	203068	broad.mit.edu	37	6	30691481	30691481	+	Silent	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:30691481T>A	ENST00000327892.8	+	4	948	c.642T>A	c.(640-642)acT>acA	p.T214T	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396389.1_Silent_p.T196T|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Silent_p.T142T|TUBB_ENST00000396384.1_Silent_p.T142T	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	214					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GCTTCCGCACTCTGAAGCTGA	0.537																																																0													101	94	96					6																	30691481		2203	4300	6503	SO:0001819	synonymous_variant	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.642T>A	6.37:g.30691481T>A			P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	CCDS4687.1																																																																																				0.537	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		A	30691481	T	A	30691481	2	1	183	1	0	0	0	0	0	0	0	1	16757	1538	54	5		5	TUBB	6	30691481	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	121217	30691481	140423586	241	10938											
BAT3	7917	broad.mit.edu	37	6	31615405	31615405	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:31615405C>T	ENST00000375964.6	-	7	1082	c.769G>A	c.(769-771)Gcg>Acg	p.A257T	BAG6_ENST00000439687.2_Missense_Mutation_p.A251T|BAG6_ENST00000211379.5_Missense_Mutation_p.A251T|BAG6_ENST00000375976.4_Missense_Mutation_p.A251T|BAG6_ENST00000404765.2_Missense_Mutation_p.A251T|BAG6_ENST00000362049.6_Missense_Mutation_p.A251T	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	257	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTTGGGCCCGCTGGGGCTGGG	0.592																																																0													89	112	104					6																	31615405		1510	2708	4218	SO:0001583	missense	7917			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.769G>A	6.37:g.31615405C>T	ENSP00000365131:p.Ala257Thr		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346378	0.24426	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000435080;ENST00000434444;ENST00000452994;ENST00000456622;ENST00000428326;ENST00000451898;ENST00000433828;ENST00000424480	T;T;T;T;T;T;T	0.44482	1.5;1.44;1.5;1.5;0.92;1.51;0.93	5.97	2.16	0.27623	.	0.646184	0.15161	N	0.277141	T	0.08044	0.0201	N	0.22421	0.69	0.09310	N	0.999995	B;B;B;B;B	0.15930	0.008;0.015;0.001;0.003;0.005	B;B;B;B;B	0.13407	0.004;0.009;0.001;0.004;0.009	T	0.39702	-0.9601	10	0.13853	T	0.58	.	4.9706	0.14113	0.1458:0.6196:0.0:0.2346	.	251;251;251;257;251	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2	.;.;.;BAG6_HUMAN;.	T	251;257;251;251;251;251;251;251;233;251;233;251;233;251;251	ENSP00000365143:A251T;ENSP00000365131:A257T;ENSP00000211379:A251T;ENSP00000384494:A251T;ENSP00000402856:A251T;ENSP00000354875:A251T;ENSP00000397978:A251T	ENSP00000211379:A251T	A	-	1	0	BAG6	31723384	0.041000	0.20044	0.119000	0.21687	0.884000	0.51177	0.173000	0.16724	0.112000	0.17975	-0.150000	0.13652	GCG		0.592	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		T	31615405	C	T	31615405	3	4	183	1	0	0	0	0	1	0	0	0	1322	797	28	2	2705	2	BAT3	6	31615405	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	923924	31615405	139499662	242	10939											
VARS	7407	broad.mit.edu	37	6	31760034	31760034	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:31760034G>A	ENST00000375663.3	-	6	1271	c.831C>T	c.(829-831)gtC>gtT	p.V277V	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	277					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CATAGGTAATGACCCCAGGAT	0.552																																																0													88	84	85					6																	31760034		1511	2709	4220	SO:0001819	synonymous_variant	7407			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.831C>T	6.37:g.31760034G>A			B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	CCDS34412.1																																																																																				0.552	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		A	31760034	G	A	31760034	2	1	183	1	0	0	0	0	0	0	0	1	17128	1277	45	2		2	VARS	6	31760034	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	144629	31760034	139355033	243	10940											
ZBTB12	221527	broad.mit.edu	37	6	31868726	31868726	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:31868726G>A	ENST00000375527.2	-	2	532	c.357C>T	c.(355-357)tgC>tgT	p.C119C	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGGCATTCCGGCATTTCTCCA	0.567																																																0													78	74	75					6																	31868726		2203	4300	6503	SO:0001819	synonymous_variant	221527			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.357C>T	6.37:g.31868726G>A			B0UY00|Q5JQ98	Silent	SNP	ENST00000375527.2	37	CCDS4727.1																																																																																				0.567	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		A	31868726	G	A	31868726	2	1	183	1	0	0	0	0	0	0	0	1	17530	1195	42	2		2	ZBTB12	6	31868726	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	108692	31868726	139246341	244	10941											
TNXB	7148	broad.mit.edu	37	6	32015543	32015543	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:32015543C>T	ENST00000375244.3	-	30	10493	c.10292G>A	c.(10291-10293)cGa>cAa	p.R3431Q	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.R3429Q			P22105	TENX_HUMAN	tenascin XB	3476	Fibronectin type-III 26. {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						GGGGCCCAGTCGTTTCCTGCC	0.622																																																0													32	39	37					6																	32015543		1344	2576	3920	SO:0001583	missense	7148			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.10292G>A	6.37:g.32015543C>T	ENSP00000364393:p.Arg3431Gln		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	C	17.23	3.336562	0.60963	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04758	3.56;3.56	4.76	3.89	0.44902	.	0.156137	0.30329	N	0.009869	T	0.09335	0.0230	M	0.85197	2.74	0.26150	N	0.980159	D	0.58268	0.982	D	0.64595	0.927	T	0.15983	-1.0418	10	0.25106	T	0.35	.	10.2362	0.43284	0.0:0.9062:0.0:0.0938	.	3429	P22105-3	.	Q	3431;3429	ENSP00000364393:R3431Q;ENSP00000364396:R3429Q	ENSP00000364393:R3431Q	R	-	2	0	TNXB	32123521	0.592000	0.26832	0.928000	0.36995	0.329000	0.28539	1.403000	0.34612	1.217000	0.43442	0.591000	0.81541	CGA		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32015543	C	T	32015543	3	4	183	1	0	0	0	0	1	0	0	0	16351	884	31	1	4487	1	TNXB	6	32015543	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	146817	32015543	139099524	245	10942											
TNXB	7148	broad.mit.edu	37	6	32017812	32017812	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:32017812G>A	ENST00000375244.3	-	27	9603	c.9402C>T	c.(9400-9402)ggC>ggT	p.G3134G	TNXB_ENST00000375247.2_Silent_p.G3132G			P22105	TENX_HUMAN	tenascin XB	3179	Fibronectin type-III 23. {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						CTACGCGCTGGCCACCGTGGA	0.637																																																0													73	81	79					6																	32017812		1274	2543	3817	SO:0001819	synonymous_variant	7148			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.9402C>T	6.37:g.32017812G>A			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																					0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32017812	G	A	32017812	2	1	183	1	0	0	0	0	0	0	0	1	16351	1190	42	2		2	TNXB	6	32017812	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2269	32017812	139097255	246	10943											
LEMD2	221496	broad.mit.edu	37	6	33744975	33744975	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:33744975G>A	ENST00000293760.5	-	7	1217	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	LEMD2_ENST00000508327.1_Missense_Mutation_p.R98W|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	400					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TTTCGCCACCGATATTTTAGG	0.488																																																0													142	159	153					6																	33744975		2203	4300	6503	SO:0001583	missense	221496				CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1198C>T	6.37:g.33744975G>A	ENSP00000293760:p.Arg400Trp		B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.275715|4.275715	0.80580|0.80580	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000293760;ENST00000508327|ENST00000504692	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Inner nuclear membrane protein MAN1 (1);|.	0.000000|.	0.52532|.	D|.	0.000065|.	T|T	0.63462|0.63462	0.2513|0.2513	M|M	0.61703|0.61703	1.905|1.905	0.43708|0.43708	D|D	0.996179|0.996179	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75020|.	0.985;0.959|.	T|T	0.62029|0.62029	-0.6940|-0.6940	9|5	0.62326|.	D|.	0.03|.	-3.3776|-3.3776	14.1956|14.1956	0.65670|0.65670	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	400;361|.	Q8NC56;A8MS91|.	LEMD2_HUMAN;.|.	W|L	400;98|47	.|.	ENSP00000293760:R400W|.	R|S	-|-	1|2	2|0	LEMD2|LEMD2	33852953|33852953	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.917000|0.917000	0.54804|0.54804	2.725000|2.725000	0.47294|0.47294	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.488	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		A	33744975	G	A	33744975	3	1	183	1	0	0	0	0	1	0	0	0	8722	1057	37	1	325	1	LEMD2	6	33744975	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1727163	33744975	137370092	247	10944											
GLO1	2739	broad.mit.edu	37	6	38652183	38652183	+	Missense_Mutation	SNP	G	G	A	rs371576917		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:38652183G>A	ENST00000373365.4	-	3	361	c.275C>T	c.(274-276)gCg>gTg	p.A92V	GLO1_ENST00000470973.1_5'Flank	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	92					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TCTGGAGAGCGCCCAGGCTAT	0.303																																																0								G	VAL/ALA	1,4403	2.1+/-5.4	0,1,2201	68	62	64		275	-4.7	0	6		64	0,8598		0,0,4299	no	missense	GLO1	NM_006708.2	64	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	92/185	38652183	1,13001	2202	4299	6501	SO:0001583	missense	2739			L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"glyoxalase domain containing 1"	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.275C>T	6.37:g.38652183G>A	ENSP00000362463:p.Ala92Val		B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	ENST00000373365.4	37	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	G	8.300	0.819806	0.16678	2.27E-4	0.0	ENSG00000124767	ENST00000373365	T	0.69175	-0.38	6.02	-4.73	0.03259	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.412177	0.29417	N	0.012205	T	0.21550	0.0519	N	0.04373	-0.215	0.09310	N	0.999998	B	0.13145	0.007	B	0.08055	0.003	T	0.07578	-1.0765	10	0.24483	T	0.36	-12.2015	20.0922	0.97824	0.1281:0.0:0.8719:0.0	.	92	Q04760	LGUL_HUMAN	V	92	ENSP00000362463:A92V	ENSP00000362463:A92V	A	-	2	0	GLO1	38760161	0.961000	0.32948	0.001000	0.08648	0.212000	0.24457	1.503000	0.35715	-0.738000	0.04817	-0.345000	0.07892	GCG		0.303	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		A	38652183	G	A	38652183	3	1	183	1	0	0	0	0	1	0	0	0	6451	1087	38	1	295	1	GLO1	6	38652183	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	4907208	38652183	132462884	248	10945											
TREML4	285852	broad.mit.edu	37	6	41197850	41197850	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:41197850T>C	ENST00000341495.2	+	4	600	c.496T>C	c.(496-498)Tct>Cct	p.S166P	TREML4_ENST00000448827.2_Missense_Mutation_p.S166P	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	166						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CATCAATGGCTCTGAGACCAG	0.547																																																0													104	97	99					6																	41197850		2203	4300	6503	SO:0001583	missense	285852			AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"Immunoglobulin superfamily / V-set domain containing"	30807	protein-coding gene	gene with protein product	"TREM like transcript 4"	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.496T>C	6.37:g.41197850T>C	ENSP00000342570:p.Ser166Pro		B7ZL92	Missense_Mutation	SNP	ENST00000341495.2	37	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.300957	0.40694	.	.	ENSG00000188056	ENST00000341495;ENST00000448827	T;T	0.08458	3.09;3.09	3.27	2.05	0.26809	.	.	.	.	.	T	0.02304	0.0071	N	0.19112	0.55	0.09310	N	1	P	0.51791	0.948	P	0.47470	0.548	T	0.43766	-0.9371	9	0.31617	T	0.26	0.4588	5.9251	0.19108	0.2308:0.0:0.0:0.7692	.	166	Q6UXN2	TRML4_HUMAN	P	166	ENSP00000342570:S166P;ENSP00000418078:S166P	ENSP00000342570:S166P	S	+	1	0	TREML4	41305828	0.004000	0.15560	0.216000	0.23742	0.094000	0.18550	0.650000	0.24858	0.594000	0.29761	0.482000	0.46254	TCT		0.547	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2			C	41197850	T	C	41197850	3	2	183	1	0	0	0	0	1	0	0	0	16479	1551	54	3	510	3	TREML4	6	41197850	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2545667	41197850	129917217	249	10946											
ZNF318	24149	broad.mit.edu	37	6	43306339	43306339	+	Silent	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:43306339G>C	ENST00000361428.2	-	10	5474	c.5397C>G	c.(5395-5397)acC>acG	p.T1799T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1799					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTCCAATGCTGGTACTTACTC	0.418																																																0													133	115	121					6																	43306339		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5397C>G	6.37:g.43306339G>C			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	CCDS4895.2																																																																																				0.418	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		C	43306339	G	C	43306339	2	2	183	1	0	0	0	0	0	0	0	1	17841	1335	47	4		4	ZNF318	6	43306339	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2108489	43306339	127808728	250	10947											
TDRD6	221400	broad.mit.edu	37	6	46656745	46656745	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:46656745G>A	ENST00000316081.6	+	1	880	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.G294R|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	294					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CACGGGGACAGGGGATGAGAA	0.632																																																0													41	41	41					6																	46656745		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.880G>A	6.37:g.46656745G>A	ENSP00000346065:p.Gly294Arg		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	5.896	0.349362	0.11182	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14391	2.51;2.51	5.34	3.52	0.40303	Maternal tudor protein (1);	0.839457	0.11030	N	0.607373	T	0.03477	0.0100	L	0.36672	1.1	0.09310	N	1	B;B	0.25390	0.102;0.125	B;B	0.29598	0.063;0.104	T	0.46484	-0.9188	10	0.16420	T	0.52	-17.3004	7.4468	0.27215	0.0849:0.3285:0.5866:0.0	.	294;294	F5H5M3;O60522	.;TDRD6_HUMAN	R	294	ENSP00000443299:G294R;ENSP00000346065:G294R	ENSP00000346065:G294R	G	+	1	0	TDRD6	46764704	0.021000	0.18746	0.073000	0.20177	0.450000	0.32258	1.378000	0.34328	0.786000	0.33708	0.655000	0.94253	GGG		0.632	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		A	46656745	G	A	46656745	3	1	183	1	0	0	0	0	1	0	0	0	15739	1000	35	2	882	2	TDRD6	6	46656745	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	3350406	46656745	124458322	251	10948											
TFAP2D	83741	broad.mit.edu	37	6	50740509	50740509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:50740509G>T	ENST00000008391.3	+	8	1519	c.1291G>T	c.(1291-1293)Gag>Tag	p.E431*		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TGCCAACTCGGAGAAAGCTCC	0.478																																																0													59	54	56					6																	50740509		2203	4300	6503	SO:0001587	stop_gained	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1291G>T	6.37:g.50740509G>T	ENSP00000008391:p.Glu431*			Nonsense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	37	6.518983	0.97633	.	.	ENSG00000008197	ENST00000008391	.	.	.	5.54	5.54	0.83059	.	0.165827	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-0.0069	19.4769	0.94992	0.0:0.0:1.0:0.0	.	.	.	.	X	431	.	ENSP00000008391:E431X	E	+	1	0	TFAP2D	50848468	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.607000	0.88179	0.467000	0.42956	GAG		0.478	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		T	50740509	G	T	50740509	4	4	183	1	0	0	0	0	0	1	0	0	15795	1175	41	4	1321	4	TFAP2D	6	50740509	Nonsense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	4083764	50740509	120374558	252	10949											
KLHL31	401265	broad.mit.edu	37	6	53519514	53519514	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:53519514delT	ENST00000407079.1	-	1	556	c.557delA	c.(556-558)aatfs	p.N186fs	KLHL31_ENST00000370905.3_Frame_Shift_Del_p.N186fs			Q9H511	KLH31_HUMAN	kelch-like family member 31	186	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGCTTTTGCATTTTTTAGGGA	0.343																																																0													76	80	79					6																	53519514		2203	4299	6502	SO:0001589	frameshift_variant	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.557delA	6.37:g.53519514delT	ENSP00000384644:p.Asn186fs		A6N9J2|B2RP49	Frame_Shift_Del	DEL	ENST00000407079.1	37	CCDS34478.1																																																																																				0.343	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		-	53519514	T	-	53519514	7	5	183	1	0	1	0	1	0	0	0	0	8387	1493	52	0	1355	0	KLHL31	6	53519514	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	2779005	53519514	117595553	253	10950											
PHF3	23469	broad.mit.edu	37	6	64395266	64395267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:64395266_64395267insA	ENST00000262043.3	+	4	1983_1984	c.1643_1644insA	c.(1642-1647)agaaaafs	p.RK548fs	PHF3_ENST00000509330.1_Frame_Shift_Ins_p.RK548fs|PHF3_ENST00000393387.1_Frame_Shift_Ins_p.RK548fs			Q92576	PHF3_HUMAN	PHD finger protein 3	548					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTCAAAGTCAGAAAAAAACAAA	0.337																																					GBM(135;136 1820 29512 34071 46235)											0																																										SO:0001589	frameshift_variant	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1650dupA	6.37:g.64395273_64395273dupA	ENSP00000262043:p.Arg548fs		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Ins	INS	ENST00000262043.3	37	CCDS4966.1																																																																																				0.337	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			A	64395267	-	A	64395266	7	5	183	1	0	1	1	0	0	0	0	0	11838	942	33	0	1653	0	PHF3	6	64395266	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	10875752	64395266	106719801	254	10951											
BAI3	577	broad.mit.edu	37	6	69949021	69949021	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:69949021T>A	ENST00000370598.1	+	20	3538	c.2717T>A	c.(2716-2718)aTa>aAa	p.I906K	BAI3_ENST00000238918.8_Missense_Mutation_p.I112K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	906					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCTAGGTACATACGCTCTGAG	0.363																																																0													176	172	173					6																	69949021		2203	4298	6501	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2717T>A	6.37:g.69949021T>A	ENSP00000359630:p.Ile906Lys		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663790	0.88251	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.54279	0.58;0.58	5.26	5.26	0.73747	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.72843	0.3511	M	0.89785	3.06	0.80722	D	1	P;D;D	0.89917	0.57;0.991;1.0	B;D;D	0.91635	0.29;0.98;0.999	T	0.80377	-0.1408	10	0.87932	D	0	.	15.1789	0.72938	0.0:0.0:0.0:1.0	.	112;906;906	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	K	906;112	ENSP00000359630:I906K;ENSP00000238918:I112K	ENSP00000238918:I112K	I	+	2	0	BAI3	70005742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.040000	0.89188	1.983000	0.57843	0.533000	0.62120	ATA		0.363	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			A	69949021	T	A	69949021	3	1	183	1	0	0	0	0	1	0	0	0	1300	1406	49	5	2787	5	BAI3	6	69949021	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	5553755	69949021	101166046	255	10952											
FAM135A	57579	broad.mit.edu	37	6	71162230	71162230	+	Nonsense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:71162230C>G	ENST00000418814.2	+	5	727	c.113C>G	c.(112-114)tCa>tGa	p.S38*	FAM135A_ENST00000505769.1_Nonsense_Mutation_p.S38*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S38*|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S38*|FAM135A_ENST00000370479.3_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	38										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAAATTCCATCAAGAATTCCC	0.318																																																0													93	86	88					6																	71162230		1799	4058	5857	SO:0001587	stop_gained	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.113C>G	6.37:g.71162230C>G	ENSP00000410768:p.Ser38*		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Nonsense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305214	0.60305	.	.	ENSG00000082269	ENST00000418814;ENST00000505769;ENST00000515323;ENST00000507085;ENST00000361499;ENST00000505868	.	.	.	5.31	5.31	0.75309	.	0.109678	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.9107	0.88934	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000194672:S38X	S	+	2	0	FAM135A	71218951	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.679000	0.54634	2.755000	0.94549	0.650000	0.86243	TCA		0.318	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		G	71162230	C	G	71162230	4	3	183	1	0	0	0	0	0	1	0	0	5450	838	29	4	119	4	FAM135A	6	71162230	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1213209	71162230	99952837	256	10953											
MYO6	4646	broad.mit.edu	37	6	76589611	76589611	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:76589611T>C	ENST00000369977.3	+	21	2291	c.2152T>C	c.(2152-2154)Tac>Cac	p.Y718H	MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369975.1_Missense_Mutation_p.Y718H|MYO6_ENST00000369985.4_Missense_Mutation_p.Y718H|MYO6_ENST00000369981.3_Missense_Mutation_p.Y718H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	718	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTACAACATGTACAAAAAGTA	0.383																																																0													147	137	140					6																	76589611		2203	4300	6503	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2152T>C	6.37:g.76589611T>C	ENSP00000358994:p.Tyr718His		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257028	0.80246	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.98576	1.0648	10	0.87932	D	0	.	15.4949	0.75641	0.0:0.0:0.0:1.0	.	718;718	Q9UM54-2;Q9UM54-1	.;.	H	718	ENSP00000358998:Y718H;ENSP00000359002:Y718H;ENSP00000358994:Y718H;ENSP00000358992:Y718H	ENSP00000358992:Y718H	Y	+	1	0	MYO6	76646331	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.632000	0.83247	2.127000	0.65507	0.533000	0.62120	TAC		0.383	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		C	76589611	T	C	76589611	3	2	183	1	0	0	0	0	1	0	0	0	10083	1638	57	3	2230	3	MYO6	6	76589611	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	5427381	76589611	94525456	257	10954											
SNAP91	9892	broad.mit.edu	37	6	84302944	84302944	+	Silent	SNP	C	C	A	rs562452559		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:84302944C>A	ENST00000439399.2	-	19	2047	c.1731G>T	c.(1729-1731)gcG>gcT	p.A577A	SNAP91_ENST00000521485.1_Silent_p.A577A|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521743.1_Silent_p.A577A|SNAP91_ENST00000428679.2_Silent_p.A577A|SNAP91_ENST00000520302.1_Silent_p.A575A|SNAP91_ENST00000195649.6_Silent_p.A577A|SNAP91_ENST00000369694.2_Silent_p.A577A	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	577	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTGGCTTAGGCGCTGCAGCAA	0.413																																																0													54	55	55					6																	84302944		2024	4194	6218	SO:0001819	synonymous_variant	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1731G>T	6.37:g.84302944C>A			A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	CCDS47455.1																																																																																				0.413	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			A	84302944	C	A	84302944	2	1	183	1	0	0	0	0	0	0	0	1	14839	755	27	4		4	SNAP91	6	84302944	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	7713333	84302944	86812123	258	10955											
FOXO3	2309	broad.mit.edu	37	6	108985226	108985226	+	Missense_Mutation	SNP	C	C	T	rs202151097		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:108985226C>T	ENST00000343882.6	+	3	1494	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	FOXO3_ENST00000406360.1_Missense_Mutation_p.P397L|FOXO3_ENST00000540898.1_Missense_Mutation_p.P177L	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	397					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|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)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ATCACGCTCCCGCCATCCCAG	0.592																																																0													39	41	40					6																	108985226		2203	4298	6501	SO:0001583	missense	2309			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1190C>T	6.37:g.108985226C>T	ENSP00000339527:p.Pro397Leu		B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	8.343	0.829099	0.16749	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D;D	0.94897	-3.55;-3.55;-3.55	5.81	4.93	0.64822	.	0.151986	0.64402	D	0.000016	D	0.82788	0.5113	N	0.20530	0.585	0.48696	D	0.999698	B	0.24043	0.096	B	0.14578	0.011	T	0.79142	-0.1925	10	0.19590	T	0.45	-16.6868	16.0741	0.80958	0.1352:0.8648:0.0:0.0	.	397	O43524	FOXO3_HUMAN	L	397;397;177;177	ENSP00000339527:P397L;ENSP00000385824:P397L;ENSP00000446316:P177L	ENSP00000339527:P397L	P	+	2	0	FOXO3	109091919	0.935000	0.31712	0.881000	0.34555	0.796000	0.44982	3.246000	0.51414	1.418000	0.47098	0.462000	0.41574	CCG		0.592	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			T	108985226	C	T	108985226	3	4	183	1	0	0	0	0	1	0	0	0	6026	652	23	1	1196	1	FOXO3	6	108985226	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	24682282	108985226	62129841	259	10956											
REV3L	5980	broad.mit.edu	37	6	111688861	111688861	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:111688861C>A	ENST00000358835.3	-	15	6584	c.6130G>T	c.(6130-6132)Gat>Tat	p.D2044Y	REV3L_ENST00000368802.3_Missense_Mutation_p.D2044Y|REV3L_ENST00000435970.1_Missense_Mutation_p.D1966Y|REV3L_ENST00000368805.1_Missense_Mutation_p.D2044Y			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2044					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGTTTGTCATCTGGGTTAACT	0.413								DNA polymerases (catalytic subunits)																																								0													165	154	157					6																	111688861		2203	4300	6503	SO:0001583	missense	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6130G>T	6.37:g.111688861C>A	ENSP00000351697:p.Asp2044Tyr		O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933055	0.34096	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.64	5.64	0.86602	Ribonuclease H-like (1);	0.290858	0.32134	N	0.006532	T	0.23886	0.0578	L	0.36672	1.1	0.29315	N	0.867749	P	0.39624	0.681	B	0.34536	0.185	T	0.22312	-1.0220	10	0.59425	D	0.04	-3.3375	14.8672	0.70425	0.1436:0.8564:0.0:0.0	.	2044	O60673	DPOLZ_HUMAN	Y	2044;2044;2044;1966;117	ENSP00000357792:D2044Y;ENSP00000357795:D2044Y;ENSP00000351697:D2044Y;ENSP00000402003:D1966Y	ENSP00000351697:D2044Y	D	-	1	0	REV3L	111795554	0.999000	0.42202	1.000000	0.80357	0.484000	0.33280	1.724000	0.38064	2.820000	0.97059	0.650000	0.86243	GAT		0.413	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		A	111688861	C	A	111688861	3	1	183	1	0	0	0	0	1	0	0	0	13246	913	32	4	3338	4	REV3L	6	111688861	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2703635	111688861	59426206	260	10957											
REV3L	5980	broad.mit.edu	37	6	111701250	111701250	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:111701250C>T	ENST00000358835.3	-	12	1843	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	REV3L_ENST00000368802.3_Missense_Mutation_p.M463I|REV3L_ENST00000435970.1_Missense_Mutation_p.M385I|REV3L_ENST00000368805.1_Missense_Mutation_p.M463I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	463					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AACTAAGCTCCATTTCCTCTT	0.348								DNA polymerases (catalytic subunits)																																								0													287	265	273					6																	111701250		2203	4300	6503	SO:0001583	missense	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1389G>A	6.37:g.111701250C>T	ENSP00000351697:p.Met463Ile		O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924349	0.52653	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.71	5.71	0.89125	Ribonuclease H-like (1);	0.104398	0.64402	D	0.000002	T	0.15132	0.0365	L	0.27053	0.805	0.35449	D	0.795549	B	0.31581	0.329	B	0.28849	0.095	T	0.05194	-1.0900	10	0.48119	T	0.1	-19.1918	19.8632	0.96793	0.0:1.0:0.0:0.0	.	463	O60673	DPOLZ_HUMAN	I	463;463;463;385	ENSP00000357792:M463I;ENSP00000357795:M463I;ENSP00000351697:M463I;ENSP00000402003:M385I	ENSP00000351697:M463I	M	-	3	0	REV3L	111807943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.746000	0.38288	2.699000	0.92147	0.655000	0.94253	ATG		0.348	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		T	111701250	C	T	111701250	3	4	183	1	0	0	0	0	1	0	0	0	13246	594	21	2	8091	2	REV3L	6	111701250	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	12389	111701250	59413817	261	10958											
FAM184A	79632	broad.mit.edu	37	6	119301393	119301393	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:119301393C>T	ENST00000338891.7	-	10	2654	c.2211G>A	c.(2209-2211)gaG>gaA	p.E737E	FAM184A_ENST00000352896.5_Silent_p.E617E|FAM184A_ENST00000521531.1_Silent_p.E737E|FAM184A_ENST00000368475.4_Silent_p.E617E|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	737						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GATGTTGCTCCTCTAATTCTT	0.418																																																0													151	139	143					6																	119301393		1900	4131	6031	SO:0001819	synonymous_variant	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2211G>A	6.37:g.119301393C>T			B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	CCDS43499.1																																																																																				0.418	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		T	119301393	C	T	119301393	2	4	183	1	0	0	0	0	0	0	0	1	5513	680	24	2		2	FAM184A	6	119301393	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	7600143	119301393	51813674	262	10959											
RNF217	154214	broad.mit.edu	37	6	125397823	125397823	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:125397823A>G	ENST00000521654.2	+	4	1302	c.1302A>G	c.(1300-1302)gaA>gaG	p.E434E	RNF217_ENST00000275184.6_Silent_p.E78E|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Silent_p.E199E|RNF217_ENST00000359704.2_Silent_p.E142E			Q8TC41	RN217_HUMAN	ring finger protein 217	434					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGCGAACTGAAGGATGTGACC	0.408																																																0													127	111	116					6																	125397823		2203	4300	6503	SO:0001819	synonymous_variant	154214			BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"RING-type (C3HC4) zinc fingers"	21487	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 172", "IBR domain containing 1"	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1302A>G	6.37:g.125397823A>G			H7C5V4|Q5TCA4|Q9BX48	Silent	SNP	ENST00000521654.2	37																																																																																					0.408	RNF217-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000042063.3	NM_152553		G	125397823	A	G	125397823	2	3	183	1	0	0	0	0	0	0	0	1	13487	69	3	3		3	RNF217	6	125397823	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	6096430	125397823	45717244	263	10960											
ARHGAP18	93663	broad.mit.edu	37	6	129937433	129937434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:129937433_129937434insA	ENST00000368149.2	-	7	1055_1056	c.967_968insT	c.(967-969)tgcfs	p.C323fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CAATGGAACGCAAAAAAGACCA	0.337																																																0																																										SO:0001589	frameshift_variant	93663			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.968dupT	6.37:g.129937439_129937439dupA	ENSP00000357131:p.Cys323fs			Frame_Shift_Ins	INS	ENST00000368149.2	37	CCDS34535.1																																																																																				0.337	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		A	129937434	-	A	129937433	7	5	183	1	0	1	1	0	0	0	0	0	868	710	25	0	1059	0	ARHGAP18	6	129937433	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	4539610	129937433	41177634	264	10961											
TAAR5	9038	broad.mit.edu	37	6	132910127	132910127	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:132910127A>G	ENST00000258034.2	-	1	750	c.699T>C	c.(697-699)atT>atC	p.I233I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	233					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TCAATGTGGTAATCTGCTGAG	0.512																																																0													45	45	45					6																	132910127		2203	4300	6503	SO:0001819	synonymous_variant	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.699T>C	6.37:g.132910127A>G			D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	CCDS5156.1																																																																																				0.512	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		G	132910127	A	G	132910127	2	3	183	1	0	0	0	0	0	0	0	1	15496	358	13	3		3	TAAR5	6	132910127	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2972694	132910127	38204940	265	10962											
VNN2	8875	broad.mit.edu	37	6	133073887	133073887	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:133073887T>C	ENST00000326499.6	-	4	663	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	VNN2_ENST00000525270.1_Splice_Site_p.Y127C|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525289.1_Intron|VNN2_ENST00000526192.1_5'Flank	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	180	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTACAGGTGGTACTACAACAA	0.403																																																0													80	78	79					6																	133073887		2203	4300	6503	SO:0001630	splice_region_variant	8875			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.538-1A>G	6.37:g.133073887T>C			A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Splice_Site	SNP	ENST00000326499.6	37	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.767386	0.49574	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.87650	-2.28;-2.28	4.8	4.8	0.61643	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.579435	0.16274	N	0.221654	D	0.90208	0.6939	M	0.81942	2.565	0.80722	D	1	D	0.69078	0.997	D	0.65140	0.932	D	0.89670	0.3883	10	0.45353	T	0.12	-7.4645	9.9839	0.41830	0.0:0.0805:0.0:0.9195	.	180	O95498	VNN2_HUMAN	C	180;127	ENSP00000322276:Y180C;ENSP00000436822:Y127C	ENSP00000322276:Y180C	Y	-	2	0	VNN2	133115580	0.998000	0.40836	0.865000	0.33974	0.869000	0.49853	4.047000	0.57383	1.923000	0.55706	0.421000	0.28195	TAC		0.403	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2		Missense_Mutation	C	133073887	T	C	133073887	5	2	183	1	0	0	0	0	0	0	1	0	17188	1652	57	3	1039	3	VNN2	6	133073887	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	163760	133073887	38041180	266	10963											
PEX7	5191	broad.mit.edu	37	6	137191121	137191121	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:137191121T>C	ENST00000318471.4	+	7	808	c.727T>C	c.(727-729)Tat>Cat	p.Y243H	PEX7_ENST00000541292.1_Missense_Mutation_p.Y243H	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	243					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TGGTCATACCTATGCTATTAG	0.338																																																0													201	199	200					6																	137191121		2203	4300	6503	SO:0001583	missense	5191			AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"WD repeat domain containing"	8860	protein-coding gene	gene with protein product	"Refsum disease"	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.727T>C	6.37:g.137191121T>C	ENSP00000315680:p.Tyr243His		C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496278	0.64186	.	.	ENSG00000112357	ENST00000541292;ENST00000318471	T;T	0.80909	-1.43;-1.43	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.055199	0.85682	D	0.000000	T	0.56877	0.2015	N	0.21097	0.63	0.51233	D	0.999918	P	0.35923	0.528	B	0.36134	0.218	T	0.61252	-0.7100	10	0.17832	T	0.49	-15.2269	15.1954	0.73084	0.0:0.0:0.0:1.0	.	243	O00628	PEX7_HUMAN	H	243	ENSP00000441004:Y243H;ENSP00000315680:Y243H	ENSP00000315680:Y243H	Y	+	1	0	PEX7	137232814	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.818000	0.69236	2.220000	0.72140	0.482000	0.46254	TAT		0.338	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		C	137191121	T	C	137191121	3	2	183	1	0	0	0	0	1	0	0	0	11753	1522	53	3	753	3	PEX7	6	137191121	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	4117234	137191121	33923946	267	10964											
KIAA1244	57221	broad.mit.edu	37	6	138584306	138584306	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:138584306C>T	ENST00000251691.4	+	12	1852	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGCCAGATGTCGTGCAGAGAA	0.512																																																0													75	66	69					6																	138584306		2203	4300	6503	SO:0001819	synonymous_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1686C>T	6.37:g.138584306C>T				Silent	SNP	ENST00000251691.4	37	CCDS5189.2																																																																																				0.512	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		T	138584306	C	T	138584306	2	4	183	1	0	0	0	0	0	0	0	1	8219	871	31	1		1	KIAA1244	6	138584306	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1393185	138584306	32530761	268	10965											
STX11	8676	broad.mit.edu	37	6	144508482	144508482	+	Missense_Mutation	SNP	G	G	A	rs372938807		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:144508482G>A	ENST00000367568.4	+	2	901	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	240	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GAAGCAGGCCGACACCCTGAA	0.627									Familial Hemophagocytic Lymphohistiocytosis																																							0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	61	52	55		718	5.4	1	6		55	0,8600		0,0,4300	no	missense	STX11	NM_003764.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	240/288	144508482	1,13005	2203	4300	6503	SO:0001583	missense	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.718G>A	6.37:g.144508482G>A	ENSP00000356540:p.Asp240Asn		E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269386	0.59540	2.27E-4	0.0	ENSG00000135604	ENST00000367568	T	0.22743	1.94	5.45	5.45	0.79879	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.439627	0.27735	N	0.018080	T	0.27832	0.0685	L	0.61387	1.9	0.33241	D	0.557195	D	0.58620	0.983	P	0.54924	0.764	T	0.02398	-1.1165	10	0.39692	T	0.17	-26.1584	18.91	0.92479	0.0:0.0:1.0:0.0	.	240	O75558	STX11_HUMAN	N	240	ENSP00000356540:D240N	ENSP00000356540:D240N	D	+	1	0	STX11	144550175	1.000000	0.71417	0.986000	0.45419	0.999000	0.98932	4.936000	0.63506	2.555000	0.86185	0.655000	0.94253	GAC		0.627	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			A	144508482	G	A	144508482	3	1	183	1	0	0	0	0	1	0	0	0	15342	1058	37	1	720	1	STX11	6	144508482	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	5924176	144508482	26606585	269	10966											
IYD	389434	broad.mit.edu	37	6	150690236	150690236	+	Silent	SNP	C	C	A	rs138283020	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:150690236C>A	ENST00000344419.3	+	1	209	c.69C>A	c.(67-69)gcC>gcA	p.A23A	IYD_ENST00000392256.2_Silent_p.A23A|IYD_ENST00000392255.3_Silent_p.A23A|IYD_ENST00000500320.3_Silent_p.A23A|IYD_ENST00000229447.5_Silent_p.A23A|IYD_ENST00000425615.3_5'Flank	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	23					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TTAAAAATGCCGACAGAAGCA	0.512																																																0													152	168	162					6																	150690236		2203	4300	6503	SO:0001819	synonymous_variant	389434			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.69C>A	6.37:g.150690236C>A			C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Silent	SNP	ENST00000344419.3	37	CCDS5227.1																																																																																				0.512	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		A	150690236	C	A	150690236	2	1	183	1	0	0	0	0	0	0	0	1	7934	639	23	4		4	IYD	6	150690236	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	6181754	150690236	20424831	270	10967											
ESR1	2099	broad.mit.edu	37	6	152265601	152265601	+	Silent	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:152265601A>C	ENST00000206249.3	+	4	1416	c.1054A>C	c.(1054-1056)Agg>Cgg	p.R352R	ESR1_ENST00000456483.2_Intron|ESR1_ENST00000443427.1_Silent_p.R352R|ESR1_ENST00000440973.1_Silent_p.R352R|ESR1_ENST00000338799.5_Silent_p.R352R|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000427531.2_Silent_p.R179R	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	352	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CCTGGCAGACAGGGAGCTGGT	0.493																																																0													94	87	89					6																	152265601		2203	4300	6503	SO:0001819	synonymous_variant	2099			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1054A>C	6.37:g.152265601A>C			Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	CCDS5234.1																																																																																				0.493	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			C	152265601	A	C	152265601	2	2	183	1	0	0	0	0	0	0	0	1	5258	179	7	5		5	ESR1	6	152265601	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1575365	152265601	18849466	271	10968											
SYNE1	23345	broad.mit.edu	37	6	152542150	152542150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:152542150G>A	ENST00000367255.5	-	119	22289	c.21688C>T	c.(21688-21690)Cag>Tag	p.Q7230*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q7230*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q7159*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q7159*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q6842*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q1754*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7230					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTGTAGCTGCTCAGCAATC	0.448										HNSCC(10;0.0054)																																						0													114	103	107					6																	152542150		2203	4300	6503	SO:0001587	stop_gained	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21688C>T	6.37:g.152542150G>A	ENSP00000356224:p.Gln7230*		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	47	13.623300	0.99753	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	.	.	.	5.53	5.53	0.82687	.	0.111791	0.40385	N	0.001116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.8132	0.96556	0.0:0.0:1.0:0.0	.	.	.	.	X	7230;7159;7230;7159;6842;1754;152	.	ENSP00000265368:Q7230X	Q	-	1	0	SYNE1	152583843	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.815000	0.86186	2.753000	0.94483	0.585000	0.79938	CAG		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152542150	G	A	152542150	4	1	183	1	0	0	0	0	0	1	0	0	15450	1328	46	2	4890	2	SYNE1	6	152542150	Nonsense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	276549	152542150	18572917	272	10969											
ARID1B	57492	broad.mit.edu	37	6	157521896	157521896	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:157521896G>A	ENST00000350026.5	+	17	4130	c.4129G>A	c.(4129-4131)Gac>Aac	p.D1377N	ARID1B_ENST00000346085.5_Missense_Mutation_p.D1390N|ARID1B_ENST00000367148.1_Missense_Mutation_p.D1430N|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1372N	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1377					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCACGAGGGCGACATGTACAA	0.557																																																0													64	67	66					6																	157521896		2203	4296	6499	SO:0001583	missense	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4129G>A	6.37:g.157521896G>A	ENSP00000055163:p.Asp1377Asn		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455219	0.43634	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02121	4.76;4.76;4.76;4.76;4.44	4.88	4.01	0.46588	.	0.049095	0.85682	D	0.000000	T	0.02304	0.0071	L	0.46157	1.445	0.53688	D	0.999979	D;D;D	0.60160	0.978;0.987;0.987	B;P;P	0.50352	0.434;0.638;0.638	T	0.55717	-0.8097	10	0.72032	D	0.01	.	13.2071	0.59803	0.0771:0.0:0.9229:0.0	.	1377;1390;1372	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	N	1390;1377;1430;1372;899	ENSP00000344546:D1390N;ENSP00000055163:D1377N;ENSP00000356116:D1430N;ENSP00000275248:D1372N;ENSP00000412835:D899N	ENSP00000275248:D1372N	D	+	1	0	ARID1B	157563588	1.000000	0.71417	0.740000	0.30986	0.363000	0.29612	9.420000	0.97426	1.181000	0.42912	0.655000	0.94253	GAC		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		A	157521896	G	A	157521896	3	1	183	1	0	0	0	0	1	0	0	0	914	1058	37	1	4238	1	ARID1B	6	157521896	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	4979746	157521896	13593171	273	10970											
SERAC1	84947	broad.mit.edu	37	6	158532468	158532468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:158532468delT	ENST00000367104.3	-	17	2026	c.1895delA	c.(1894-1896)aagfs	p.K632fs	SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	632					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AAAAGCATCCTTTTTCTTTGG	0.338																																																0													112	104	107					6																	158532468		2203	4300	6503	SO:0001589	frameshift_variant	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1895delA	6.37:g.158532468delT	ENSP00000356071:p.Lys632fs		Q49AT1|Q5VTX3|Q6PKF3	Frame_Shift_Del	DEL	ENST00000367104.3	37	CCDS5255.1																																																																																				0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		-	158532468	T	-	158532468	7	5	183	1	0	1	0	1	0	0	0	0	14080	1609	56	0	73	0	SERAC1	6	158532468	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	1010572	158532468	12582599	274	10971											
TULP4	56995	broad.mit.edu	37	6	158923024	158923024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:158923024delC	ENST00000367097.3	+	13	3686	c.2329delC	c.(2329-2331)cccfs	p.P779fs	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	779					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTCCCTGCCTCCCCCGCCGCA	0.632																																																0													97	98	98					6																	158923024		2203	4300	6503	SO:0001589	frameshift_variant	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2329delC	6.37:g.158923024delC	ENSP00000356064:p.Pro779fs		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Frame_Shift_Del	DEL	ENST00000367097.3	37	CCDS34561.1																																																																																				0.632	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		-	158923024	C	-	158923024	7	5	183	1	0	1	0	1	0	0	0	0	16781	855	30	0	2379	0	TULP4	6	158923024	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	390556	158923024	12192043	275	10972											
WTAP	9589	broad.mit.edu	37	6	160164822	160164822	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr6:160164822A>G	ENST00000358372.4	+	5	2028	c.271A>G	c.(271-273)Act>Gct	p.T91A	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Missense_Mutation_p.T91A	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	91					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GCAAGAGTGTACTGTAAGTAT	0.338																																																0													65	62	63					6																	160164822		2203	4300	6503	SO:0001583	missense	9589			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.271A>G	6.37:g.160164822A>G	ENSP00000351141:p.Thr91Ala		Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593139	0.46214	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	T;T	0.46819	0.86;0.86	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	N	0.17474	0.49	0.58432	D	0.999999	B;B	0.20988	0.05;0.0	B;B	0.13407	0.009;0.001	T	0.07966	-1.0745	10	0.17832	T	0.49	0.2504	16.1251	0.81386	1.0:0.0:0.0:0.0	.	91;91	Q15007;Q5TCL9	FL2D_HUMAN;.	A	91	ENSP00000351141:T91A;ENSP00000336911:T91A	ENSP00000336911:T91A	T	+	1	0	WTAP	160084812	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.511000	0.81718	2.267000	0.75376	0.477000	0.44152	ACT		0.338	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		G	160164822	A	G	160164822	3	3	183	1	0	0	0	0	1	0	0	0	17414	391	14	3	285	3	WTAP	6	160164822	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1241798	160164822	10950245	276	10973											
ZNF12	7559	broad.mit.edu	37	7	6731351	6731351	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:6731351G>C	ENST00000405858.1	-	5	1763	c.1222C>G	c.(1222-1224)Ctc>Gtc	p.L408V	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.L334V|ZNF12_ENST00000342651.5_Missense_Mutation_p.L370V	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	408					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CACTTGTAGAGTTTCACACCT	0.453																																																0													76	77	76					7																	6731351		2072	4245	6317	SO:0001583	missense	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1222C>G	7.37:g.6731351G>C	ENSP00000385939:p.Leu408Val		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439289	0.43326	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.18810	2.19;2.19;2.19	4.01	4.01	0.46588	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38778	N	0.001567	T	0.28896	0.0717	N	0.16037	0.36	0.29024	N	0.886102	D;D	0.89917	1.0;0.996	D;P	0.91635	0.999;0.893	T	0.08086	-1.0739	10	0.87932	D	0	.	14.4248	0.67207	0.0:0.0:1.0:0.0	.	408;370	P17014;P17014-5	ZNF12_HUMAN;.	V	334;408;370;466;370	ENSP00000384405:L334V;ENSP00000385939:L408V;ENSP00000344745:L370V	ENSP00000331039:L370V	L	-	1	0	ZNF12	6697876	0.999000	0.42202	0.934000	0.37439	0.597000	0.36814	5.282000	0.65615	2.523000	0.85059	0.655000	0.94253	CTC		0.453	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		C	6731351	G	C	6731351	3	2	183	1	0	0	0	0	1	0	0	0	17723	1029	36	4	875	4	ZNF12	7	6731351	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08		6731351	152407312	277	10974											
THSD7A	221981	broad.mit.edu	37	7	11676288	11676291	+	Frame_Shift_Del	DEL	TCTT	TCTT	-	rs367628265		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:11676288_11676291delTCTT	ENST00000423059.4	-	2	739_742	c.488_491delAAGA	c.(487-492)aaagacfs	p.KD165fs	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	165					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AATGTCTTTGTCTTTCTGGATGCA	0.49										HNSCC(18;0.044)																																						0																																										SO:0001589	frameshift_variant	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.488_491delAAGA	7.37:g.11676288_11676291delTCTT	ENSP00000406482:p.Lys165fs			Frame_Shift_Del	DEL	ENST00000423059.4	37	CCDS47543.1																																																																																				0.49	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		-	11676291	TCTT	-	11676288	7	5	183	1	0	1	0	1	0	0	0	0	15884	1667	58	0	4586	0	THSD7A	7	11676288	Frame_Shift_Del	DEL	TCTT	TCGA-B0-5098-01A-01D-1421-08	4944937	11676288	147462375	278	10975											
ETV1	2115	broad.mit.edu	37	7	13971309	13971309	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:13971309C>A	ENST00000430479.1	-	9	1287	c.620G>T	c.(619-621)gGa>gTa	p.G207V	ETV1_ENST00000242066.5_Missense_Mutation_p.G189V|ETV1_ENST00000420159.2_Missense_Mutation_p.G149V|ETV1_ENST00000405218.2_Missense_Mutation_p.G207V|ETV1_ENST00000403527.1_Missense_Mutation_p.G167V|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Missense_Mutation_p.G104V|ETV1_ENST00000405192.2_Missense_Mutation_p.G207V|ETV1_ENST00000343495.5_Missense_Mutation_p.G189V|ETV1_ENST00000403685.1_Missense_Mutation_p.G189V|ETV1_ENST00000405358.4_Missense_Mutation_p.G221V	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	207					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CATAGGACGTCCTTCCCTTGG	0.512			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																		Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	0													131	128	129					7																	13971309		2038	4188	6226	SO:0001583	missense	2115				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.620G>T	7.37:g.13971309C>A	ENSP00000405327:p.Gly207Val		A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120151	0.94385	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.055064	0.85682	D	0.000000	T	0.51466	0.1676	M	0.61703	1.905	0.80722	D	1	P;P;D;D;D;D;P;P	0.89917	0.934;0.948;0.966;0.996;0.992;1.0;0.833;0.635	P;P;P;P;D;D;P;P	0.91635	0.711;0.578;0.711;0.856;0.978;0.999;0.606;0.493	T	0.16660	-1.0395	10	0.34782	T	0.22	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	218;189;221;149;104;167;149;207	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	V	207;189;189;149;104;207;221;167;207;189;149;104	ENSP00000405327:G207V;ENSP00000242066:G189V;ENSP00000340853:G189V;ENSP00000411626:G149V;ENSP00000382293:G104V;ENSP00000385381:G207V;ENSP00000384085:G221V;ENSP00000384138:G167V;ENSP00000385551:G207V;ENSP00000385686:G189V;ENSP00000393078:G149V;ENSP00000394710:G104V	ENSP00000242066:G189V	G	-	2	0	ETV1	13937834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.291000	0.78721	2.932000	0.99384	0.644000	0.83932	GGA		0.512	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		A	13971309	C	A	13971309	3	1	183	1	0	0	0	0	1	0	0	0	5279	855	30	4	837	4	ETV1	7	13971309	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2295021	13971309	145167354	279	10976											
PRPS1L1	221823	broad.mit.edu	37	7	18066798	18066798	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:18066798T>C	ENST00000506618.2	-	1	688	c.608A>G	c.(607-609)gAc>gGc	p.D203G		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	203					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CACTATGCAGTCCACTTCATT	0.463																																																0													125	121	122					7																	18066798		2202	4300	6502	SO:0001583	missense	221823			M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.608A>G	7.37:g.18066798T>C	ENSP00000424595:p.Asp203Gly		Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984989	0.35036	.	.	ENSG00000229937	ENST00000506618	D	0.91631	-2.88	4.4	4.4	0.53042	Phosphoribosyltransferase (1);	.	.	.	.	D	0.90397	0.6994	L	0.46567	1.45	.	.	.	B	0.21452	0.056	B	0.36335	0.222	D	0.91138	0.4943	8	0.44086	T	0.13	.	11.9016	0.52687	0.0:0.0:0.0:1.0	.	203	P21108	PRPS3_HUMAN	G	203	ENSP00000424595:D203G	ENSP00000424595:D203G	D	-	2	0	PRPS1L1	18033323	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	5.559000	0.67326	1.984000	0.57885	0.528000	0.53228	GAC		0.463	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		C	18066798	T	C	18066798	3	2	183	1	0	0	0	0	1	0	0	0	12584	1667	58	3	352	3	PRPS1L1	7	18066798	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	4095489	18066798	141071865	280	10977											
HDAC9	9734	broad.mit.edu	37	7	18705937	18705937	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:18705937G>A	ENST00000432645.2	+	11	1560	c.1560G>A	c.(1558-1560)gcG>gcA	p.A520A	HDAC9_ENST00000456174.2_Silent_p.A492A|HDAC9_ENST00000401921.1_Silent_p.A479A|HDAC9_ENST00000406072.1_Silent_p.A507A|HDAC9_ENST00000524023.1_Silent_p.A443A|HDAC9_ENST00000405010.3_Silent_p.A520A|HDAC9_ENST00000428307.2_Silent_p.A476A|HDAC9_ENST00000441542.2_Silent_p.A523A|HDAC9_ENST00000406451.4_Silent_p.A520A|HDAC9_ENST00000417496.2_Silent_p.A518A	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	520					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAGACAGAGCGCCCTCTAGTG	0.542											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													108	120	116					7																	18705937		2046	4200	6246	SO:0001819	synonymous_variant	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1560G>A	7.37:g.18705937G>A		727	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	CCDS47555.1																																																																																				0.542	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			A	18705937	G	A	18705937	2	1	183	1	0	0	0	0	0	0	0	1	7016	1074	38	1		1	HDAC9	7	18705937	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	639139	18705937	140432726	281	10978											
KLHL7	55975	broad.mit.edu	37	7	23191797	23191797	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:23191797A>G	ENST00000339077.5	+	7	1148	c.905A>G	c.(904-906)cAa>cGa	p.Q302R	KLHL7_ENST00000545443.1_Missense_Mutation_p.Q280R|KLHL7_ENST00000542558.1_Missense_Mutation_p.Q77R|KLHL7_ENST00000322231.7_Missense_Mutation_p.Q280R|KLHL7_ENST00000539124.1_Missense_Mutation_p.Q226R|KLHL7_ENST00000409689.1_Missense_Mutation_p.Q254R	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	302					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGAGGCTCTCAACCACAGTCT	0.393																																																0													114	108	110					7																	23191797		2203	4300	6503	SO:0001583	missense	55975				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.905A>G	7.37:g.23191797A>G	ENSP00000343273:p.Gln302Arg		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.549912	0.65311	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443;ENST00000414163	T;T;T;T;T;T;T	0.77489	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-1.1	5.78	5.78	0.91487	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	L	0.38175	1.15	0.58432	D	0.999996	B;B;B	0.20459	0.002;0.045;0.022	B;B;B	0.15052	0.0;0.011;0.012	T	0.65463	-0.6162	10	0.37606	T	0.19	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	77;302;280	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	R	143;268;280;302;226;77;254;280;70	ENSP00000322958:Q280R;ENSP00000343273:Q302R;ENSP00000441136:Q226R;ENSP00000442367:Q77R;ENSP00000386263:Q254R;ENSP00000442366:Q280R;ENSP00000404181:Q70R	ENSP00000322958:Q280R	Q	+	2	0	KLHL7	23158322	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	8.358000	0.90090	2.220000	0.72140	0.533000	0.62120	CAA		0.393	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		G	23191797	A	G	23191797	3	3	183	1	0	0	0	0	1	0	0	0	8396	130	5	3	994	3	KLHL7	7	23191797	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	4485860	23191797	135946866	282	10979											
HOXA9	3205	broad.mit.edu	37	7	27203284	27203284	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:27203284A>G	ENST00000343483.6	-	2	829	c.757T>C	c.(757-759)Tgg>Cgg	p.W253R	HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.W93R|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	253					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TTCTGGAACCAGATCTTGACC	0.478			T	"NUP98, MSI2"	AML*																																		Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0													136	137	137					7																	27203284		2203	4300	6503	SO:0001583	missense	3205				CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"Homeoboxes / ANTP class : HOXL subclass"	5109	protein-coding gene	gene with protein product		142956	"homeo box A9"	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.757T>C	7.37:g.27203284A>G	ENSP00000343619:p.Trp253Arg		O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240102	0.79912	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.99822	-6.94;-6.94	5.21	5.21	0.72293	Homeobox, eukaryotic (2);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.56097	D	0.000023	D	0.99917	0.9961	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95916	0.8927	10	0.87932	D	0	.	14.5807	0.68288	1.0:0.0:0.0:0.0	.	253	P31269	HXA9_HUMAN	R	253;177;244;93	ENSP00000343619:W253R;ENSP00000421799:W93R	ENSP00000242050:W244R	W	-	1	0	RP1-170O19.20;HOXA9	27169809	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.120000	0.65058	0.459000	0.35465	TGG		0.478	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			G	27203284	A	G	27203284	3	3	183	1	0	0	0	0	1	0	0	0	7300	188	7	3	65	3	HOXA9	7	27203284	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	4011487	27203284	131935379	283	10980											
CRHR2	1395	broad.mit.edu	37	7	30702345	30702345	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:30702345C>T	ENST00000471646.1	-	6	1079	c.662G>A	c.(661-663)cGc>cAc	p.R221H	CRHR2_ENST00000348438.4_Missense_Mutation_p.R248H|CRHR2_ENST00000341843.4_Missense_Mutation_p.R207H|CRHR2_ENST00000506074.2_Missense_Mutation_p.R221H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	221					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGCGCAGGCGCTCAGTGGA	0.567																																																0													109	92	98					7																	30702345		2203	4300	6503	SO:0001583	missense	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.662G>A	7.37:g.30702345C>T	ENSP00000418722:p.Arg221His		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477846	0.44044	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.4	0.972	0.19704	GPCR, family 2-like (1);	0.163679	0.52532	N	0.000074	T	0.36138	0.0956	L	0.45698	1.435	0.31310	N	0.687206	B;B;B;B;B	0.22003	0.037;0.063;0.013;0.005;0.037	B;B;B;B;B	0.21708	0.036;0.036;0.013;0.008;0.036	T	0.34825	-0.9813	10	0.56958	D	0.05	.	6.6649	0.23035	0.0:0.4484:0.0:0.5516	.	220;221;248;207;221	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	H	221;248;207;221	ENSP00000418722:R221H;ENSP00000340943:R248H;ENSP00000344304:R207H;ENSP00000426498:R221H	ENSP00000344304:R207H	R	-	2	0	CRHR2	30668870	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.807000	0.38902	0.352000	0.24053	0.655000	0.94253	CGC		0.567	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			T	30702345	C	T	30702345	3	4	183	1	0	0	0	0	1	0	0	0	3874	768	27	1	601	1	CRHR2	7	30702345	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3499061	30702345	128436318	284	10981											
MRPL32	64983	broad.mit.edu	37	7	42977150	42977150	+	Missense_Mutation	SNP	G	G	A	rs146917176		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:42977150G>A	ENST00000223324.2	+	3	729	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	181					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						GACAGAAAGCGACCATCCTGG	0.443																																																0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	69	63	65		542	5.6	0.9	7	dbSNP_134	65	0,8600		0,0,4300	yes	missense	MRPL32	NM_031903.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	181/189	42977150	1,13005	2203	4300	6503	SO:0001583	missense	64983			AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"Mitochondrial ribosomal proteins / large subunits"	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.542G>A	7.37:g.42977150G>A	ENSP00000223324:p.Arg181Gln		Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665839	0.96745	2.27E-4	0.0	ENSG00000106591	ENST00000223324	.	.	.	5.62	5.62	0.85841	.	0.099260	0.64402	D	0.000003	D	0.84311	0.5444	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.85012	0.0906	9	0.51188	T	0.08	-15.3807	19.6758	0.95932	0.0:0.0:1.0:0.0	.	181	Q9BYC8	RM32_HUMAN	Q	181	.	ENSP00000223324:R181Q	R	+	2	0	MRPL32	42943675	1.000000	0.71417	0.930000	0.37139	0.987000	0.75469	7.274000	0.78538	2.644000	0.89710	0.561000	0.74099	CGA		0.443	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		A	42977150	G	A	42977150	3	1	183	1	0	0	0	0	1	0	0	0	9797	1058	37	1	552	1	MRPL32	7	42977150	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	12274805	42977150	116161513	285	10982											
POLM	27434	broad.mit.edu	37	7	44113413	44113413	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:44113413G>T	ENST00000242248.5	-	9	1384	c.1283C>A	c.(1282-1284)cCt>cAt	p.P428H	POLM_ENST00000335195.6_Missense_Mutation_p.P391H|POLM_ENST00000395831.3_Missense_Mutation_p.P348H|POLM_ENST00000492971.1_5'Flank	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	428					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGGGCGAAAGGGAACTGGCT	0.672								DNA polymerases (catalytic subunits)																																								0													45	54	51					7																	44113413		2203	4300	6503	SO:0001583	missense	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1283C>A	7.37:g.44113413G>T	ENSP00000242248:p.Pro428His		D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223314	0.79464	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	T;T;T	0.46063	0.88;0.88;0.88	5.75	4.88	0.63580	DNA-directed DNA polymerase X (1);	0.259609	0.38326	N	0.001731	T	0.63331	0.2502	M	0.81112	2.525	0.25081	N	0.990929	B;D;B	0.89917	0.244;1.0;0.009	B;D;B	0.66196	0.06;0.942;0.011	T	0.60311	-0.7288	10	0.62326	D	0.03	-28.7033	12.4229	0.55529	0.0:0.0:0.8321:0.1679	.	348;391;428	Q86WQ9;Q6P5X8;Q9NP87	.;.;DPOLM_HUMAN	H	391;428;348	ENSP00000335141:P391H;ENSP00000242248:P428H;ENSP00000379174:P348H	ENSP00000242248:P428H	P	-	2	0	POLM	44079938	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.218000	0.72224	1.451000	0.47736	-0.133000	0.14855	CCT		0.672	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		T	44113413	G	T	44113413	3	4	183	1	0	0	0	0	1	0	0	0	12208	1000	35	4	213	4	POLM	7	44113413	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1136263	44113413	115025250	286	10983											
AEBP1	165	broad.mit.edu	37	7	44149825	44149825	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:44149825A>G	ENST00000223357.3	+	11	1585	c.1280A>G	c.(1279-1281)gAc>gGc	p.D427G	AEBP1_ENST00000450684.2_5'Flank|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	427	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for DNA-binding and interaction with NFKBIA. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACTGAGGACGACTACTATGAT	0.627																																																0													100	82	88					7																	44149825		2203	4300	6503	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1280A>G	7.37:g.44149825A>G	ENSP00000223357:p.Asp427Gly		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445620	0.84101	.	.	ENSG00000106624	ENST00000223357	D	0.98493	-4.96	5.24	5.24	0.73138	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.054713	0.64402	D	0.000001	D	0.98191	0.9402	L	0.42487	1.325	0.80722	D	1	D	0.64830	0.994	D	0.73380	0.98	D	0.99809	1.1040	10	0.87932	D	0	-54.6437	14.8054	0.69952	1.0:0.0:0.0:0.0	.	427	Q8IUX7	AEBP1_HUMAN	G	427	ENSP00000223357:D427G	ENSP00000223357:D427G	D	+	2	0	AEBP1	44116350	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	9.057000	0.93889	1.990000	0.58119	0.459000	0.35465	GAC		0.627	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		G	44149825	A	G	44149825	3	3	183	1	0	0	0	0	1	0	0	0	349	275	10	3	1322	3	AEBP1	7	44149825	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	36412	44149825	114988838	287	10984											
AEBP1	165	broad.mit.edu	37	7	44153558	44153558	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:44153558A>G	ENST00000223357.3	+	21	3480	c.3175A>G	c.(3175-3177)Acc>Gcc	p.T1059A	AEBP1_ENST00000450684.2_Missense_Mutation_p.T634A	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1059	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGCCCCTGCCACCACCCTGAG	0.682																																																0													44	42	43					7																	44153558		2202	4298	6500	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3175A>G	7.37:g.44153558A>G	ENSP00000223357:p.Thr1059Ala		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639127	0.47153	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95307	-3.67;-3.07	4.72	0.196	0.15159	.	3.907140	0.00447	N	0.000092	D	0.88883	0.6558	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.001	T	0.77838	-0.2439	10	0.66056	D	0.02	-0.9141	3.4641	0.07544	0.467:0.319:0.1271:0.0868	.	634;1059	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	A	1059;634	ENSP00000223357:T1059A;ENSP00000398878:T634A	ENSP00000223357:T1059A	T	+	1	0	AEBP1	44120083	0.000000	0.05858	0.000000	0.03702	0.590000	0.36582	0.026000	0.13599	0.124000	0.18369	-0.461000	0.05368	ACC		0.682	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		G	44153558	A	G	44153558	3	3	183	1	0	0	0	0	1	0	0	0	349	159	6	3	3257	3	AEBP1	7	44153558	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3733	44153558	114985105	288	10985											
CLDN4	1364	broad.mit.edu	37	7	73246063	73246063	+	Frame_Shift_Del	DEL	G	G	-	rs200226062		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:73246063delG	ENST00000435050.1	+	2	3212	c.532delG	c.(532-534)gggfs	p.G179fs	CLDN4_ENST00000431918.1_Frame_Shift_Del_p.G179fs|CLDN4_ENST00000340958.2_Frame_Shift_Del_p.G179fs			O14493	CLD4_HUMAN	claudin 4	179					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GCTCCTTGGCGGGGGGCTGCT	0.642																																																0													39	42	41					7																	73246063		2203	4300	6503	SO:0001589	frameshift_variant	1364			AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"Claudins"	2046	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 1", "Williams-Beuren syndrome chromosomal region 8 protein"	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.532delG	7.37:g.73246063delG	ENSP00000409544:p.Gly179fs			Frame_Shift_Del	DEL	ENST00000435050.1	37	CCDS5560.1																																																																																				0.642	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1	NM_001305		-	73246063	G	-	73246063	7	5	183	1	0	1	0	1	0	0	0	0	3489	1116	39	0	534	0	CLDN4	7	73246063	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	29092505	73246063	85892600	289	10986											
GRM3	2913	broad.mit.edu	37	7	86468878	86468878	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:86468878T>C	ENST00000361669.2	+	4	3147	c.2048T>C	c.(2047-2049)aTc>aCc	p.I683T	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.I555T|GRM3_ENST00000546348.1_Missense_Mutation_p.I275T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	683					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAAAATTCATCAGCCCCAGT	0.542																																					GBM(52;969 1098 3139 52280)											0													75	74	74					7																	86468878		2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2048T>C	7.37:g.86468878T>C	ENSP00000355316:p.Ile683Thr		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520978	0.64747	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.87887	-2.31;-2.31;-2.31	5.69	5.69	0.88448	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90123	0.6914	L	0.41573	1.285	0.80722	D	1	P;D;D	0.65815	0.946;0.993;0.995	P;D;D	0.69479	0.646;0.939;0.964	D	0.90515	0.4484	10	0.52906	T	0.07	.	15.1171	0.72410	0.0:0.0:0.0:1.0	.	275;555;683	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	T	683;275;555	ENSP00000355316:I683T;ENSP00000444064:I275T;ENSP00000441407:I555T	ENSP00000355316:I683T	I	+	2	0	GRM3	86306814	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.166000	0.68216	0.460000	0.39030	ATC		0.542	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			C	86468878	T	C	86468878	3	2	183	1	0	0	0	0	1	0	0	0	6800	1435	50	3	2058	3	GRM3	7	86468878	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	13222815	86468878	72669785	290	10987											
KIAA1324L	222223	broad.mit.edu	37	7	86542277	86542277	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:86542277G>T	ENST00000450689.2	-	14	2160	c.1975C>A	c.(1975-1977)Cct>Act	p.P659T	KIAA1324L_ENST00000444627.1_Silent_p.G612G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P492T|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P419T|KIAA1324L_ENST00000490995.1_5'Flank	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	659						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTACTCCCAGGCCCGCATGGA	0.438																																																0													90	79	82					7																	86542277		2203	4300	6503	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1975C>A	7.37:g.86542277G>T	ENSP00000413445:p.Pro659Thr		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.622890|4.622890	0.87460|0.87460	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000416314	.|T;T;T	.|0.63913	.|-0.07;-0.07;-0.07	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81460|0.81460	0.4827|0.4827	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.998;0.999;0.999	.|D;D;D	.|0.70487	.|0.969;0.913;0.913	T|T	0.80643|0.80643	-0.1291|-0.1291	5|10	.|0.39692	.|T	.|0.17	.|.	19.0872|19.0872	0.93209|0.93209	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|659;419;492	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	D|T	619|659;419;492	.|ENSP00000413445:P659T;ENSP00000297222:P419T;ENSP00000402390:P492T	.|ENSP00000297222:P419T	A|P	-|-	2|1	0|0	KIAA1324L|KIAA1324L	86380213|86380213	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.230000|9.230000	0.95299|0.95299	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.438	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		T	86542277	G	T	86542277	3	4	183	1	0	0	0	0	1	0	0	0	8226	1203	42	4	1150	4	KIAA1324L	7	86542277	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	73399	86542277	72596386	291	10988											
PPP1R9A	55607	broad.mit.edu	37	7	94539704	94539704	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:94539704T>C	ENST00000433881.1	+	2	811	c.279T>C	c.(277-279)caT>caC	p.H93H	PPP1R9A_ENST00000456331.2_Silent_p.H93H|PPP1R9A_ENST00000433360.1_Silent_p.H93H|PPP1R9A_ENST00000424654.1_Silent_p.H93H|PPP1R9A_ENST00000289495.5_Silent_p.H93H|PPP1R9A_ENST00000340694.4_Silent_p.H93H			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	93	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGGTGGACATTCATCTCCTC	0.408										HNSCC(28;0.073)																																						0													51	52	51					7																	94539704		2203	4300	6503	SO:0001819	synonymous_variant	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.279T>C	7.37:g.94539704T>C			A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	CCDS34683.1																																																																																				0.408	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		C	94539704	T	C	94539704	2	2	183	1	0	0	0	0	0	0	0	1	12383	1490	52	3		3	PPP1R9A	7	94539704	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	7997427	94539704	64598959	292	10989											
CNPY4	245812	broad.mit.edu	37	7	99717401	99717402	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:99717401_99717402insT	ENST00000262932.3	+	1	166_167	c.34_35insT	c.(34-36)cttfs	p.L12fs	TAF6_ENST00000418432.2_5'Flank|TAF6_ENST00000437822.2_5'UTR|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000452041.1_5'Flank|TAF6_ENST00000453269.2_5'Flank|TAF6_ENST00000344095.4_5'Flank|TAF6_ENST00000497233.1_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	12						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTGCTTTTCCTTTTTTTGGCC	0.525																																																0																																										SO:0001589	frameshift_variant	245812			AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.41dupT	7.37:g.99717408_99717408dupT	ENSP00000262932:p.Leu12fs		Q8WUN9	Frame_Shift_Ins	INS	ENST00000262932.3	37	CCDS34701.1																																																																																				0.525	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		T	99717402	-	T	99717401	7	5	183	1	0	1	1	0	0	0	0	0	3632	681	24	0	36	0	CNPY4	7	99717401	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	5177697	99717401	59421262	293	10990											
SRRT	51593	broad.mit.edu	37	7	100482088	100482090	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:100482088_100482090delAAG	ENST00000347433.4	+	7	1015_1017	c.857_859delAAG	c.(856-861)aaagaa>aaa	p.E288del	SRRT_ENST00000388793.4_In_Frame_Del_p.E288del|SRRT_ENST00000457580.2_In_Frame_Del_p.E288del|SRRT_ENST00000432932.1_In_Frame_Del_p.E288del			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	288	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCAGCAAGAAAGAAGAAGGACG	0.596																																																0																																										SO:0001651	inframe_deletion	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.857_859delAAG	7.37:g.100482094_100482096delAAG	ENSP00000314491:p.Glu288del		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	In_Frame_Del	DEL	ENST00000347433.4	37	CCDS34709.1																																																																																				0.596	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		-	100482090	AAG	-	100482088	7	5	183	1	0	1	0	1	0	0	0	0	15177	14	1	0	879	0	SRRT	7	100482088	In_Frame_Del	DEL	AAG	TCGA-B0-5098-01A-01D-1421-08	764687	100482088	58656575	294	10991											
MUC17	140453	broad.mit.edu	37	7	100679747	100679747	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:100679747A>G	ENST00000306151.4	+	3	5114	c.5050A>G	c.(5050-5052)Act>Gct	p.T1684A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1684	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAACCTCAACTTATACTGA	0.463																																																0													195	209	204					7																	100679747		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5050A>G	7.37:g.100679747A>G	ENSP00000302716:p.Thr1684Ala		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	2.261	-0.369167	0.05069	.	.	ENSG00000169876	ENST00000306151	T	0.03035	4.07	0.932	-0.623	0.11556	.	.	.	.	.	T	0.01189	0.0039	N	0.03608	-0.345	0.09310	N	1	P	0.49635	0.926	B	0.39590	0.304	T	0.22417	-1.0217	9	0.05620	T	0.96	.	3.0041	0.06023	0.6061:0.0:0.0:0.3939	.	1684	Q685J3	MUC17_HUMAN	A	1684	ENSP00000302716:T1684A	ENSP00000302716:T1684A	T	+	1	0	MUC17	100466467	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.674000	0.05233	-0.134000	0.11516	0.113000	0.15668	ACT		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		G	100679747	A	G	100679747	3	3	183	1	0	0	0	0	1	0	0	0	9976	43	2	3	5060	3	MUC17	7	100679747	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	197659	100679747	58458916	295	10992											
RELN	5649	broad.mit.edu	37	7	103126801	103126801	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:103126801C>T	ENST00000428762.1	-	61	9985	c.9826G>A	c.(9826-9828)Gca>Aca	p.A3276T	RELN_ENST00000343529.5_Missense_Mutation_p.A3276T|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.A3276T|RN7SKP86_ENST00000410454.1_RNA|RELN_ENST00000473945.1_5'Flank	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3276					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGACTCTTGCGGACTCAAAA	0.498																																					NSCLC(146;835 1944 15585 22231 52158)											0													81	80	80					7																	103126801		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9826G>A	7.37:g.103126801C>T	ENSP00000392423:p.Ala3276Thr		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701134	0.68501	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.22134	1.97;1.97;1.97	5.86	5.86	0.93980	.	0.308306	0.35838	N	0.002953	T	0.16128	0.0388	N	0.14661	0.345	0.33828	D	0.629875	B;B	0.27997	0.148;0.197	B;B	0.24848	0.056;0.04	T	0.10497	-1.0627	10	0.38643	T	0.18	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	3276;3276	P78509-2;P78509	.;RELN_HUMAN	T	3276;3276;3276;793;3276	ENSP00000392423:A3276T;ENSP00000345694:A3276T;ENSP00000388446:A3276T	ENSP00000345694:A3276T	A	-	1	0	RELN	102914037	1.000000	0.71417	0.988000	0.46212	0.970000	0.65996	5.765000	0.68834	2.775000	0.95449	0.655000	0.94253	GCA		0.498	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		T	103126801	C	T	103126801	3	4	183	1	0	0	0	0	1	0	0	0	13226	768	27	1	576	1	RELN	7	103126801	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2447054	103126801	56011862	296	10993											
NAMPT	10135	broad.mit.edu	37	7	105904030	105904030	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:105904030T>C	ENST00000222553.3	-	7	1084	c.777A>G	c.(775-777)aaA>aaG	p.K259K	NAMPT_ENST00000354289.4_Silent_p.K259K	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	259					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CAAAAGCATCTTTTTCATGGT	0.373																																																0													91	93	92					7																	105904030		2203	4299	6502	SO:0001819	synonymous_variant	10135			U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"visfatin"	608764	"pre-B-cell colony enhancing factor 1"	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.777A>G	7.37:g.105904030T>C			A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Silent	SNP	ENST00000222553.3	37	CCDS5737.1																																																																																				0.373	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		C	105904030	T	C	105904030	2	2	183	1	0	0	0	0	0	0	0	1	10151	1606	56	3		3	NAMPT	7	105904030	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2777229	105904030	53234633	297	10994											
LAMB1	3912	broad.mit.edu	37	7	107576084	107576084	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:107576084T>C	ENST00000222399.6	-	27	4194	c.3964A>G	c.(3964-3966)Acc>Gcc	p.T1322A	LAMB1_ENST00000393561.1_Missense_Mutation_p.T1346A|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1322	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AAATACTTGGTAATGCTATCC	0.493																																																0													155	142	146					7																	107576084		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3964A>G	7.37:g.107576084T>C	ENSP00000222399:p.Thr1322Ala		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348215	0.41599	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.32023	1.48;1.47	5.42	5.42	0.78866	.	.	.	.	.	T	0.29288	0.0729	L	0.47716	1.5	0.80722	D	1	B;B	0.24618	0.004;0.107	B;B	0.18871	0.002;0.023	T	0.03545	-1.1026	9	0.38643	T	0.18	.	15.6174	0.76778	0.0:0.0:0.0:1.0	.	1322;1346	P07942;G3XAI2	LAMB1_HUMAN;.	A	1346;1322	ENSP00000377191:T1346A;ENSP00000222399:T1322A	ENSP00000222399:T1322A	T	-	1	0	LAMB1	107363320	1.000000	0.71417	0.986000	0.45419	0.977000	0.68977	5.688000	0.68227	2.275000	0.75901	0.528000	0.53228	ACC		0.493	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		C	107576084	T	C	107576084	3	2	183	1	0	0	0	0	1	0	0	0	8612	1638	57	3	1428	3	LAMB1	7	107576084	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1672054	107576084	51562579	298	10995											
MET	4233	broad.mit.edu	37	7	116371797	116371797	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:116371797C>T	ENST00000318493.6	+	3	1463	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	MET_ENST00000436117.2_Missense_Mutation_p.R426C|MET_ENST00000397752.3_Missense_Mutation_p.R426C|MET_ENST00000495962.1_3'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGCTTTGCAGCGCGTTGACTT	0.428			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													119	111	113					7																	116371797		1911	4115	6026	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1276C>T	7.37:g.116371797C>T	ENSP00000317272:p.Arg426Cys		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540383	0.45176	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.12569	2.67;2.67;2.67	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.47407	-0.9120	10	0.87932	D	0	.	15.301	0.73952	0.1485:0.8515:0.0:0.0	.	426;426;426;426;426;426;426;426;426;426;426	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;B5A942;P08581	.;.;.;.;.;.;.;.;.;.;MET_HUMAN	C	426	ENSP00000380860:R426C;ENSP00000317272:R426C;ENSP00000410980:R426C	ENSP00000317272:R426C	R	+	1	0	MET	116159033	1.000000	0.71417	0.623000	0.29173	0.113000	0.19764	4.448000	0.60027	2.624000	0.88883	0.655000	0.94253	CGC		0.428	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			T	116371797	C	T	116371797	3	4	183	1	0	0	0	0	1	0	0	0	9487	768	27	1	1282	1	MET	7	116371797	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	8795713	116371797	42766866	299	10996											
CPA1	1357	broad.mit.edu	37	7	130024430	130024430	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:130024430C>T	ENST00000011292.3	+	7	900	c.750C>T	c.(748-750)ggC>ggT	p.G250G	CPA1_ENST00000484324.1_Silent_p.G162G	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	250					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TCTGTATTGGCGTGGACCCCA	0.597																																																0													118	103	108					7																	130024430		2203	4300	6503	SO:0001819	synonymous_variant	1357				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.750C>T	7.37:g.130024430C>T			A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	CCDS5820.1																																																																																				0.597	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		T	130024430	C	T	130024430	2	4	183	1	0	0	0	0	0	0	0	1	3791	755	27	1		1	CPA1	7	130024430	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	13652633	130024430	29114233	300	10997											
EPHB6	2051	broad.mit.edu	37	7	142561951	142561951	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:142561951C>T	ENST00000392957.2	+	7	1180	c.393C>T	c.(391-393)taC>taT	p.Y131Y	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.Y131Y	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	131	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCACCCTTTACTACCGTCAGG	0.632																																																0													57	60	59					7																	142561951		2203	4300	6503	SO:0001819	synonymous_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.393C>T	7.37:g.142561951C>T			A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																				0.632	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			T	142561951	C	T	142561951	2	4	183	1	0	0	0	0	0	0	0	1	5180	576	20	2		2	EPHB6	7	142561951	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	12537521	142561951	16576712	301	10998											
OR2A7	401427	broad.mit.edu	37	7	143956190	143956190	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:143956190delA	ENST00000493325.1	-	1	625	c.532delT	c.(532-534)tgtfs	p.C178fs	OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000498397.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AAGATTTCACAAAAAAAGTGA	0.458																																																0													12	14	13					7																	143956190		1892	4005	5897	SO:0001589	frameshift_variant	401427				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.532delT	7.37:g.143956190delA	ENSP00000420502:p.Cys178fs		B2RN57|Q6IFP4	Frame_Shift_Del	DEL	ENST00000493325.1	37	CCDS55177.1																																																																																				0.458	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			-	143956190	A	-	143956190	7	5	183	1	0	1	0	1	0	0	0	0	10984	130	5	0	403	0	OR2A7	7	143956190	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	1394239	143956190	15182473	302	10999											
ZNF777	27153	broad.mit.edu	37	7	149129497	149129497	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:149129497C>T	ENST00000247930.4	-	6	2189	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	622					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCTGGGTGACTTGGGACGCG	0.667																																																0													84	98	93					7																	149129497		2130	4251	6381	SO:0001819	synonymous_variant	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1866G>A	7.37:g.149129497C>T			Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	CCDS43675.1																																																																																				0.667	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		T	149129497	C	T	149129497	2	4	183	1	0	0	0	0	0	0	0	1	18155	564	20	2		2	ZNF777	7	149129497	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	5173307	149129497	10009166	303	11000											
SSPO	23145	broad.mit.edu	37	7	149482799	149482799	+	RNA	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:149482799T>C	ENST00000378016.2	+	0	3215							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCGTGCGTCTGGAGGGCACT	0.617																																																0													22	25	24					7																	149482799		2151	4244	6395			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482799T>C			Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																					0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149482799	T	C	149482799	1	2	183	0	1	0	0	0	0	0	0	0	15194	1580	55	3		3	SSPO	7	149482799	RNA	SNP	T	TCGA-B0-5098-01A-01D-1421-08	353302	149482799	9655864	304	11001											
ZNF862	643641	broad.mit.edu	37	7	149545507	149545507	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:149545507G>C	ENST00000223210.4	+	4	1170	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TGATGCAGTAGAATCCTGCAT	0.348																																																0													7	8	7					7																	149545507		1692	3775	5467	SO:0001583	missense	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.925G>C	7.37:g.149545507G>C	ENSP00000223210:p.Glu309Gln		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835483	0.32421	.	.	ENSG00000106479	ENST00000223210	T	0.01185	5.21	5.04	5.04	0.67666	.	0.116409	0.38217	N	0.001770	T	0.01454	0.0047	L	0.29908	0.895	0.09310	N	0.999998	P	0.37781	0.608	B	0.37943	0.261	T	0.51585	-0.8687	10	0.66056	D	0.02	-9.2073	13.9214	0.63933	0.0:0.0:1.0:0.0	.	309	O60290	ZN862_HUMAN	Q	309	ENSP00000223210:E309Q	ENSP00000223210:E309Q	E	+	1	0	ZNF862	149176440	0.261000	0.24063	0.175000	0.22980	0.131000	0.20780	2.330000	0.43885	2.352000	0.79861	0.650000	0.86243	GAA		0.348	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		C	149545507	G	C	149545507	3	2	183	1	0	0	0	0	1	0	0	0	18200	943	33	4	939	4	ZNF862	7	149545507	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	62708	149545507	9593156	305	11002											
ASB10	136371	broad.mit.edu	37	7	150883716	150883716	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:150883716A>G	ENST00000420175.2	-	2	371	c.347T>C	c.(346-348)cTg>cCg	p.L116P	ASB10_ENST00000422024.1_Missense_Mutation_p.L161P|ASB10_ENST00000434669.1_Missense_Mutation_p.L161P|ASB10_ENST00000377867.3_Missense_Mutation_p.L101P|ASB10_ENST00000275838.1_Missense_Mutation_p.L116P			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	116					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGGTGGTCAGCTCCTCTTC	0.662																																																0													15	17	17					7																	150883716		2202	4294	6496	SO:0001583	missense	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.347T>C	7.37:g.150883716A>G	ENSP00000391137:p.Leu116Pro		A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204468	0.79127	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.91	4.91	0.64330	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000001	T	0.64605	0.2613	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	T	0.62544	-0.6832	10	0.27785	T	0.31	-4.9832	13.7415	0.62852	1.0:0.0:0.0:0.0	.	101;116;161	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	P	116;101;161;161;116	ENSP00000275838:L116P;ENSP00000367098:L101P;ENSP00000401369:L161P;ENSP00000398247:L161P;ENSP00000391137:L116P	ENSP00000275838:L116P	L	-	2	0	ASB10	150514649	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.902000	0.75699	1.834000	0.53371	0.402000	0.26972	CTG		0.662	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		G	150883716	A	G	150883716	3	3	183	1	0	0	0	0	1	0	0	0	1014	188	7	3	1072	3	ASB10	7	150883716	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1338209	150883716	8254947	306	11003											
MLL3	58508	broad.mit.edu	37	7	151859636	151859636	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:151859636G>C	ENST00000262189.6	-	43	11244	c.11026C>G	c.(11026-11028)Cta>Gta	p.L3676V	KMT2C_ENST00000355193.2_Missense_Mutation_p.L3676V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3676					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTGTACATAGCTGGCCTGCT	0.488																																																0													133	138	137					7																	151859636		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11026C>G	7.37:g.151859636G>C	ENSP00000262189:p.Leu3676Val		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.219|7.219	0.596937|0.596937	0.13875|0.13875	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.88431	.|-1.66;-1.66;-2.38	5.39|5.39	3.55|3.55	0.40652|0.40652	.|.	.|1.188320	.|0.06586	.|U	.|0.751157	D|D	0.83436|0.83436	0.5254|0.5254	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999991|0.999991	.|B;B;B	.|0.22211	.|0.049;0.066;0.013	.|B;B;B	.|0.24006	.|0.016;0.05;0.025	T|T	0.69165|0.69165	-0.5217|-0.5217	5|10	.|0.33141	.|T	.|0.24	.|.	6.9503|6.9503	0.24542|0.24542	0.1686:0.1562:0.6752:0.0|0.1686:0.1562:0.6752:0.0	.|.	.|3676;2737;3676	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	G|V	1181|3676;3676;262	.|ENSP00000262189:L3676V;ENSP00000347325:L3676V;ENSP00000410411:L262V	.|ENSP00000262189:L3676V	A|L	-|-	2|1	0|2	MLL3|MLL3	151490569|151490569	0.051000|0.051000	0.20477|0.20477	0.034000|0.034000	0.17996|0.17996	0.031000|0.031000	0.12232|0.12232	0.477000|0.477000	0.22196|0.22196	2.521000|2.521000	0.84997|0.84997	0.557000|0.557000	0.71058|0.71058	GCT|CTA		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151859636	G	C	151859636	3	2	183	1	0	0	0	0	1	0	0	0	9624	962	34	4	3777	4	MLL3	7	151859636	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	975920	151859636	7279027	307	11004											
HTR5A	3361	broad.mit.edu	37	7	154863209	154863209	+	Silent	SNP	C	C	T	rs577000054	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr7:154863209C>T	ENST00000287907.2	+	1	1176	c.600C>T	c.(598-600)taC>taT	p.Y200Y	HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	200					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	AGCCTTCCTACGCCGTGTTCT	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		16973	0.0		0.0	False		,,,				2504	0.002															0													86	71	76					7																	154863209		2203	4300	6503	SO:0001819	synonymous_variant	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.600C>T	7.37:g.154863209C>T			Q2M2D2	Silent	SNP	ENST00000287907.2	37	CCDS5936.1																																																																																				0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		T	154863209	C	T	154863209	2	4	183	1	0	0	0	0	0	0	0	1	7452	547	19	1		1	HTR5A	7	154863209	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3003573	154863209	4275454	308	11005											
MYOM2	9172	broad.mit.edu	37	8	2005806	2005806	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:2005806C>A	ENST00000262113.4	+	5	609	c.468C>A	c.(466-468)atC>atA	p.I156I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	156	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCCTGAGATCCTGGTGCGGC	0.597																																																0													88	77	81					8																	2005806		2203	4300	6503	SO:0001819	synonymous_variant	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.468C>A	8.37:g.2005806C>A			Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.597	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2005806	C	A	2005806	2	1	183	1	0	0	0	0	0	0	0	1	10094	845	30	4		4	MYOM2	8	2005806	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08		2005806	144358216	309	11006											
MYOM2	9172	broad.mit.edu	37	8	2077161	2077161	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:2077161A>G	ENST00000262113.4	+	32	3882	c.3741A>G	c.(3739-3741)atA>atG	p.I1247M	MYOM2_ENST00000523438.1_Missense_Mutation_p.I672M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1247					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAGAAGGAATACGACTTCAGT	0.448																																																0													86	82	83					8																	2077161		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3741A>G	8.37:g.2077161A>G	ENSP00000262113:p.Ile1247Met		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	a	10.88	1.475467	0.26511	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.37235	1.21;1.21	5.6	-6.94	0.01633	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	M	0.77486	2.375	0.21355	N	0.999719	B	0.15141	0.012	B	0.27076	0.076	T	0.38090	-0.9677	10	0.56958	D	0.05	.	10.1963	0.43056	0.1677:0.5989:0.0:0.2334	.	1247	P54296	MYOM2_HUMAN	M	1247;672	ENSP00000262113:I1247M;ENSP00000428396:I672M	ENSP00000262113:I1247M	I	+	3	3	MYOM2	2064568	0.442000	0.25633	0.000000	0.03702	0.456000	0.32438	0.033000	0.13754	-1.158000	0.02811	-0.524000	0.04348	ATA		0.448	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		G	2077161	A	G	2077161	3	3	183	1	0	0	0	0	1	0	0	0	10094	381	14	3	3863	3	MYOM2	8	2077161	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	71355	2077161	144286861	310	11007											
CSMD1	64478	broad.mit.edu	37	8	3855604	3855604	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:3855604G>A	ENST00000520002.1	-	5	1194	c.639C>T	c.(637-639)cgC>cgT	p.R213R	CSMD1_ENST00000602723.1_Silent_p.R213R|CSMD1_ENST00000539096.1_Silent_p.R213R|CSMD1_ENST00000400186.3_Silent_p.R213R|CSMD1_ENST00000542608.1_Silent_p.R213R|CSMD1_ENST00000537824.1_Silent_p.R213R|CSMD1_ENST00000602557.1_Silent_p.R213R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	213	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.R213R(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTGGTCCCGCGTAAGGTTC	0.567																																																1	Substitution - coding silent(1)	large_intestine(1)											32	34	33					8																	3855604		2083	4252	6335	SO:0001819	synonymous_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.639C>T	8.37:g.3855604G>A			Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37																																																																																					0.567	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3855604	G	A	3855604	2	1	183	1	0	0	0	0	0	0	0	1	3946	1074	38	1		1	CSMD1	8	3855604	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1778443	3855604	142508418	311	11008											
LONRF1	91694	broad.mit.edu	37	8	12592895	12592900	+	In_Frame_Del	DEL	GGCTCA	GGCTCA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:12592895_12592900delGGCTCA	ENST00000398246.3	-	7	1530_1535	c.1461_1466delTGAGCC	c.(1459-1467)tttgagcca>tta	p.487_489FEP>L	LONRF1_ENST00000533751.1_In_Frame_Del_p.130_132FEP>L|LONRF1_ENST00000530693.1_5'Flank	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	487							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GGTTGTTACTGGCTCAAAAAACAACC	0.359																																																0																																										SO:0001651	inframe_deletion	91694			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1461_1466delTGAGCC	8.37:g.12592895_12592900delGGCTCA	ENSP00000381298:p.Phe487_Pro489delinsLeu		B4DM29|B4DU84|Q8TEA0|Q9BSV1	In_Frame_Del	DEL	ENST00000398246.3	37	CCDS5987.2																																																																																				0.359	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		-	12592900	GGCTCA	-	12592895	7	5	183	1	0	1	0	1	0	0	0	0	8896	1348	47	0	879	0	LONRF1	8	12592895	In_Frame_Del	DEL	GGCTCA	TCGA-B0-5098-01A-01D-1421-08	8737291	12592895	133771127	312	11009											
DLC1	10395	broad.mit.edu	37	8	13356895	13356895	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:13356895G>A	ENST00000276297.4	-	2	1095	c.686C>T	c.(685-687)gCt>gTt	p.A229V	DLC1_ENST00000316609.5_Missense_Mutation_p.A229V|DLC1_ENST00000511869.1_Missense_Mutation_p.A229V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	229					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGCAATTACAGCAGAGTTAAG	0.388																																																0													156	154	155					8																	13356895		2203	4300	6503	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.686C>T	8.37:g.13356895G>A	ENSP00000276297:p.Ala229Val		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666578	0.67814	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.13307	3.61;2.6;2.63	4.84	4.84	0.62591	.	0.000000	0.40818	N	0.001020	T	0.25121	0.0610	L	0.55990	1.75	0.36993	D	0.894868	D;P;B	0.65815	0.995;0.946;0.053	P;P;B	0.56474	0.799;0.781;0.033	T	0.02588	-1.1137	10	0.40728	T	0.16	.	12.8932	0.58084	0.0783:0.0:0.9217:0.0	.	229;229;229	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	V	229	ENSP00000276297:A229V;ENSP00000321034:A229V;ENSP00000425878:A229V	ENSP00000276297:A229V	A	-	2	0	DLC1	13401266	1.000000	0.71417	0.993000	0.49108	0.922000	0.55478	3.833000	0.55790	2.658000	0.90341	0.655000	0.94253	GCT		0.388	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		A	13356895	G	A	13356895	3	1	183	1	0	0	0	0	1	0	0	0	4552	971	34	2	4053	2	DLC1	8	13356895	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	764000	13356895	133007127	313	11010											
CSGALNACT1	55790	broad.mit.edu	37	8	19363023	19363023	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:19363023A>G	ENST00000454498.2	-	4	1336	c.323T>C	c.(322-324)cTg>cCg	p.L108P	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.L108P|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.L108P	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	108					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GCTCCTGTCCAGACCCAGGCC	0.627																																																0													42	43	42					8																	19363023		2203	4300	6503	SO:0001583	missense	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.323T>C	8.37:g.19363023A>G	ENSP00000411816:p.Leu108Pro		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	A	0.068	-1.208060	0.01568	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	3.6	-4.04	0.04010	.	1.641090	0.03242	N	0.180510	T	0.24774	0.0601	L	0.59436	1.845	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.20974	-1.0259	10	0.23302	T	0.38	3.0588	8.786	0.34821	0.7038:0.1212:0.175:0.0	.	108	Q8TDX6	CGAT1_HUMAN	P	108	ENSP00000411816:L108P;ENSP00000330805:L108P;ENSP00000310891:L108P;ENSP00000429809:L108P;ENSP00000442155:L108P	ENSP00000310891:L108P	L	-	2	0	CSGALNACT1	19407303	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.553000	0.23391	-1.387000	0.02095	-1.481000	0.00988	CTG		0.627	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		G	19363023	A	G	19363023	3	3	183	1	0	0	0	0	1	0	0	0	3940	188	7	3	1303	3	CSGALNACT1	8	19363023	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	6006128	19363023	127000999	314	11011											
PHYHIP	9796	broad.mit.edu	37	8	22078925	22078925	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:22078925T>C	ENST00000321613.3	-	6	1390	c.934A>G	c.(934-936)Act>Gct	p.T312A	PHYHIP_ENST00000454243.2_Missense_Mutation_p.T312A	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	312										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCATCGGCAGTAGACAGACTC	0.637																																																0													59	67	64					8																	22078925		2105	4212	6317	SO:0001583	missense	9796			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.934A>G	8.37:g.22078925T>C	ENSP00000320017:p.Thr312Ala		D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129493	0.77549	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132	T;T	0.48201	0.82;0.82	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	M	0.74881	2.28	0.50313	D	0.999867	D	0.67145	0.996	P	0.62813	0.907	T	0.69731	-0.5066	10	0.59425	D	0.04	-16.901	14.1848	0.65598	0.0:0.0:0.0:1.0	.	312	Q92561	PHYIP_HUMAN	A	312;312;219	ENSP00000320017:T312A;ENSP00000415491:T312A	ENSP00000320017:T312A	T	-	1	0	PHYHIP	22134870	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.035000	0.88872	2.002000	0.58637	0.374000	0.22700	ACT		0.637	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		C	22078925	T	C	22078925	3	2	183	1	0	0	0	0	1	0	0	0	11868	1638	57	3	62	3	PHYHIP	8	22078925	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2715902	22078925	124285097	315	11012											
RHOBTB2	23221	broad.mit.edu	37	8	22865538	22865538	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:22865538A>G	ENST00000251822.6	+	6	2071	c.1534A>G	c.(1534-1536)Agc>Ggc	p.S512G	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.S519G|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.S534G	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	512	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGCACCATCAGCGCCCACAA	0.572																																																0													73	72	72					8																	22865538		2203	4300	6503	SO:0001583	missense	23221			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1534A>G	8.37:g.22865538A>G	ENSP00000251822:p.Ser512Gly		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.925692	0.52759	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.68181	-0.31;-0.31;-0.31	4.99	3.76	0.43208	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.272597	0.47455	D	0.000221	T	0.61135	0.2323	L	0.49350	1.555	0.27054	N	0.963705	B;B;B	0.32862	0.387;0.387;0.387	B;B;B	0.39771	0.309;0.232;0.309	T	0.53472	-0.8434	10	0.26408	T	0.33	.	9.6429	0.39850	0.844:0.0:0.0:0.156	.	519;512;534	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	G	534;519;512	ENSP00000427926:S534G;ENSP00000429141:S519G;ENSP00000251822:S512G	ENSP00000251822:S512G	S	+	1	0	RHOBTB2	22921483	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.633000	0.46519	1.857000	0.53885	0.533000	0.62120	AGC		0.572	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			G	22865538	A	G	22865538	3	3	183	1	0	0	0	0	1	0	0	0	13340	188	7	3	1637	3	RHOBTB2	8	22865538	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	786613	22865538	123498484	316	11013											
KCTD9	54793	broad.mit.edu	37	8	25290134	25290134	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:25290134C>A	ENST00000221200.4	-	11	1159	c.939G>T	c.(937-939)gtG>gtT	p.V313V		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	313	Pentapeptide repeat 2.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		CTTCCATATCCACACCTTTCA	0.393																																																0													99	109	105					8																	25290134		2203	4298	6501	SO:0001819	synonymous_variant	54793			BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"BTB/POZ domain containing"	22401	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 9"			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.939G>T	8.37:g.25290134C>A			Q6NUM8|Q9NXV4	Silent	SNP	ENST00000221200.4	37	CCDS6048.1																																																																																				0.393	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		A	25290134	C	A	25290134	2	1	183	1	0	0	0	0	0	0	0	1	8118	581	21	4		4	KCTD9	8	25290134	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2424596	25290134	121073888	317	11014											
KIF13B	23303	broad.mit.edu	37	8	28967545	28967545	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:28967545C>T	ENST00000524189.1	-	33	4011	c.3973G>A	c.(3973-3975)Gca>Aca	p.A1325T	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1325					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACATTGGCTGCCATTCTTGCT	0.463																																																0													47	45	46					8																	28967545		1996	4191	6187	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3973G>A	8.37:g.28967545C>T	ENSP00000427900:p.Ala1325Thr		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778704	0.70107	.	.	ENSG00000197892	ENST00000524189	D	0.83506	-1.73	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.90109	0.6910	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.90821	0.4709	10	0.87932	D	0	.	18.7866	0.91957	0.0:1.0:0.0:0.0	.	1325	F8VPJ2	.	T	1325	ENSP00000427900:A1325T	ENSP00000427900:A1325T	A	-	1	0	KIF13B	29023464	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	7.211000	0.77933	2.662000	0.90505	0.650000	0.86243	GCA		0.463	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			T	28967545	C	T	28967545	3	4	183	1	0	0	0	0	1	0	0	0	8277	739	26	2	1539	2	KIF13B	8	28967545	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3677411	28967545	117396477	318	11015											
TEX15	56154	broad.mit.edu	37	8	30701622	30701622	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:30701622T>C	ENST00000256246.2	-	1	4986	c.4912A>G	c.(4912-4914)Aag>Gag	p.K1638E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1638					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGACAAACCTTAGTTTCTTCC	0.368																																																0													50	51	50					8																	30701622		2202	4300	6502	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4912A>G	8.37:g.30701622T>C	ENSP00000256246:p.Lys1638Glu			Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	6.537	0.467408	0.12402	.	.	ENSG00000133863	ENST00000256246	T	0.11385	2.78	5.92	-1.22	0.09494	.	0.674762	0.14234	N	0.332530	T	0.07999	0.0200	L	0.47716	1.5	0.09310	N	1	B	0.24721	0.11	B	0.22152	0.038	T	0.31586	-0.9938	10	0.87932	D	0	.	2.375	0.04339	0.1226:0.3391:0.1262:0.4121	.	1638	Q9BXT5	TEX15_HUMAN	E	1638	ENSP00000256246:K1638E	ENSP00000256246:K1638E	K	-	1	0	TEX15	30821164	0.000000	0.05858	0.298000	0.25002	0.921000	0.55340	0.169000	0.16641	0.156000	0.19299	0.533000	0.62120	AAG		0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			C	30701622	T	C	30701622	3	2	183	1	0	0	0	0	1	0	0	0	15784	1763	61	3	3473	3	TEX15	8	30701622	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1734077	30701622	115662400	319	11016											
TM2D2	83877	broad.mit.edu	37	8	38848862	38848862	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:38848862T>C	ENST00000456397.2	-	4	727	c.634A>G	c.(634-636)Act>Gct	p.T212A	TM2D2_ENST00000522434.1_5'Flank|TM2D2_ENST00000397070.2_Missense_Mutation_p.T169A|TM2D2_ENST00000412303.1_Missense_Mutation_p.T169A|TM2D2_ENST00000456845.2_Missense_Mutation_p.T169A	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	212						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TAGTAAACAGTGCACCAGTTG	0.483																																																0													56	48	51					8																	38848862		2203	4300	6503	SO:0001583	missense	83877			AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.634A>G	8.37:g.38848862T>C	ENSP00000416050:p.Thr212Ala		B2RBK4|D3DSX8|Q8N0X9	Missense_Mutation	SNP	ENST00000456397.2	37	CCDS6111.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974572	0.74246	.	.	ENSG00000169490	ENST00000456845;ENST00000456397;ENST00000412303;ENST00000397070	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	N	0.04508	-0.205	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.80764	0.994;0.978	T	0.56920	-0.7899	9	0.24483	T	0.36	-15.8878	16.1307	0.81436	0.0:0.0:0.0:1.0	.	169;212	Q9BX73-2;Q9BX73	.;TM2D2_HUMAN	A	169;212;169;169	.	ENSP00000380260:T169A	T	-	1	0	TM2D2	38968019	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.933000	0.87642	2.209000	0.71365	0.459000	0.35465	ACT		0.483	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377280.1	NM_031940		C	38848862	T	C	38848862	3	2	183	1	0	0	0	0	1	0	0	0	15969	1696	59	3	14	3	TM2D2	8	38848862	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	8147240	38848862	107515160	320	11017											
PLAT	5327	broad.mit.edu	37	8	42040264	42040264	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:42040264A>G	ENST00000220809.4	-	8	1032	c.776T>C	c.(775-777)cTg>cCg	p.L259P	PLAT_ENST00000524009.1_Missense_Mutation_p.L170P|PLAT_ENST00000352041.3_Missense_Mutation_p.L213P|PLAT_ENST00000519510.1_Missense_Mutation_p.L196P|PLAT_ENST00000429710.2_Missense_Mutation_p.L133P|PLAT_ENST00000429089.2_Missense_Mutation_p.L259P|PLAT_ENST00000270189.6_Missense_Mutation_p.L259P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	259	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCCCAGGCCCAGTGCCTGGGC	0.592																																																0													86	92	90					8																	42040264		2203	4300	6503	SO:0001583	missense	5327				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.776T>C	8.37:g.42040264A>G	ENSP00000220809:p.Leu259Pro		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	A	6.124	0.391157	0.11581	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.41	5.41	0.78517	Kringle (4);Kringle-like fold (1);	0.222920	0.39475	N	0.001351	D	0.89677	0.6784	M	0.90145	3.09	0.80722	D	1	D;D;B;D;D	0.89917	0.996;1.0;0.167;0.987;0.998	D;D;B;D;D	0.79784	0.989;0.993;0.201;0.952;0.977	D	0.91312	0.5075	10	0.56958	D	0.05	.	14.6221	0.68594	1.0:0.0:0.0:0.0	.	133;170;259;213;259	B4DNJ1;B4DN26;B8ZX62;P00750-3;P00750	.;.;.;.;TPA_HUMAN	P	259;259;259;213;196;133;170	ENSP00000270189:L259P;ENSP00000392045:L259P;ENSP00000220809:L259P;ENSP00000270188:L213P;ENSP00000428886:L196P;ENSP00000407861:L133P;ENSP00000429401:L170P	ENSP00000220809:L259P	L	-	2	0	PLAT	42159421	1.000000	0.71417	0.895000	0.35142	0.361000	0.29550	7.734000	0.84928	2.059000	0.61396	0.533000	0.62120	CTG		0.592	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		G	42040264	A	G	42040264	3	3	183	1	0	0	0	0	1	0	0	0	12023	188	7	3	940	3	PLAT	8	42040264	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3191402	42040264	104323758	321	11018											
ST18	9705	broad.mit.edu	37	8	53030917	53030917	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:53030917A>G	ENST00000276480.7	-	24	3523	c.2840T>C	c.(2839-2841)aTg>aCg	p.M947T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	947					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAGTTTCATCATATCTGCTTC	0.303																																																0													192	188	189					8																	53030917		2201	4297	6498	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2840T>C	8.37:g.53030917A>G	ENSP00000276480:p.Met947Thr		Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799129	0.70567	.	.	ENSG00000147488	ENST00000276480	T	0.56941	0.43	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.71160	0.3307	M	0.71206	2.165	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.75204	-0.3400	10	0.87932	D	0	-20.0087	15.2739	0.73726	1.0:0.0:0.0:0.0	.	947	O60284	ST18_HUMAN	T	947	ENSP00000276480:M947T	ENSP00000276480:M947T	M	-	2	0	ST18	53193470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.905000	0.92613	2.022000	0.59522	0.482000	0.46254	ATG		0.303	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			G	53030917	A	G	53030917	3	3	183	1	0	0	0	0	1	0	0	0	15217	217	8	3	315	3	ST18	8	53030917	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	10990653	53030917	93333105	322	11019											
XKR4	114786	broad.mit.edu	37	8	56436132	56436132	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:56436132C>T	ENST00000327381.6	+	3	1399	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	433						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGATTGTGTTCGACATGGTGG	0.443																																																0													228	210	216					8																	56436132		2203	4300	6503	SO:0001819	synonymous_variant	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1299C>T	8.37:g.56436132C>T			Q96PZ8	Silent	SNP	ENST00000327381.6	37	CCDS34893.1																																																																																				0.443	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		T	56436132	C	T	56436132	2	4	183	1	0	0	0	0	0	0	0	1	17438	883	31	1		1	XKR4	8	56436132	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3405215	56436132	89927890	323	11020											
ZFHX4	79776	broad.mit.edu	37	8	77617102	77617102	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:77617102T>C	ENST00000521891.2	+	2	1227	c.779T>C	c.(778-780)gTg>gCg	p.V260A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V260A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V260A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V260A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTAACAATGTGGACTTGTCC	0.413										HNSCC(33;0.089)																																						0													193	189	190					8																	77617102		2116	4271	6387	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.779T>C	8.37:g.77617102T>C	ENSP00000430497:p.Val260Ala		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357516	0.24598	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56444	0.47;0.5;0.47;0.46	5.43	5.43	0.79202	.	0.000000	0.40064	U	0.001196	T	0.70046	0.3179	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.71674	0.994;0.996;0.996;0.998	D;D;D;D	0.77557	0.97;0.987;0.987;0.99	T	0.69847	-0.5034	10	0.41790	T	0.15	.	15.6454	0.77046	0.0:0.0:0.0:1.0	.	260;260;260;260	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	A	260	ENSP00000430497:V260A;ENSP00000399605:V260A;ENSP00000050961:V260A;ENSP00000430848:V260A	ENSP00000050961:V260A	V	+	2	0	ZFHX4	77779657	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.525000	0.81892	2.279000	0.76181	0.533000	0.62120	GTG		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		C	77617102	T	C	77617102	3	2	183	1	0	0	0	0	1	0	0	0	17640	1696	59	3	781	3	ZFHX4	8	77617102	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	21180970	77617102	68746920	324	11021											
ZFHX4	79776	broad.mit.edu	37	8	77775451	77775451	+	Silent	SNP	T	T	A	rs199874527		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:77775451T>A	ENST00000521891.2	+	11	9949	c.9501T>A	c.(9499-9501)ccT>ccA	p.P3167P	ZFHX4_ENST00000518282.1_Silent_p.P3141P|ZFHX4_ENST00000050961.6_Silent_p.P3118P|ZFHX4_ENST00000455469.2_Silent_p.P3122P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ctccaccacctcctcctcctc	0.522										HNSCC(33;0.089)																																						0													52	53	53					8																	77775451		2064	4225	6289	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9501T>A	8.37:g.77775451T>A			G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77775451	T	A	77775451	2	1	183	1	0	0	0	0	0	0	0	1	17640	1538	54	5		5	ZFHX4	8	77775451	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	158349	77775451	68588571	325	11022											
PAG1	55824	broad.mit.edu	37	8	81897572	81897572	+	Silent	SNP	G	G	A	rs113484085		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:81897572G>A	ENST00000220597.4	-	7	1025	c.315C>T	c.(313-315)taC>taT	p.Y105Y		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	105					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGACTTCCTCGTAATGCTGCA	0.498																																																0								G		0,4406		0,0,2203	45	44	44		315	-4.7	0.8	8	dbSNP_132	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PAG1	NM_018440.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		105/433	81897572	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55824			AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.315C>T	8.37:g.81897572G>A			A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	CCDS6227.1																																																																																				0.498	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		A	81897572	G	A	81897572	2	1	183	1	0	0	0	0	0	0	0	1	11390	1140	40	1		1	PAG1	8	81897572	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	4122121	81897572	64466450	326	11023											
SLC7A13	157724	broad.mit.edu	37	8	87242135	87242135	+	Frame_Shift_Del	DEL	A	A	-	rs185522605		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:87242135delA	ENST00000297524.3	-	1	475	c.372delT	c.(370-372)tttfs	p.F124fs	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Frame_Shift_Del_p.F124fs	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	124						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.S126fs*20(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGCAGCTGGGAAAAAAAGGCT	0.488																																																1	Deletion - Frameshift(1)	ovary(1)											68	67	67					8																	87242135		2203	4300	6503	SO:0001589	frameshift_variant	157724			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.372delT	8.37:g.87242135delA	ENSP00000297524:p.Phe124fs		Q05C37|Q08AH9|Q96N84	Frame_Shift_Del	DEL	ENST00000297524.3	37	CCDS34917.1																																																																																				0.488	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		-	87242135	A	-	87242135	7	5	183	1	0	1	0	1	0	0	0	0	14701	243	9	0	1056	0	SLC7A13	8	87242135	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	5344563	87242135	59121887	327	11024											
RIPK2	8767	broad.mit.edu	37	8	90784903	90784903	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:90784903A>G	ENST00000220751.4	+	6	1014	c.700A>G	c.(700-702)Aat>Gat	p.N234D	RIPK2_ENST00000540020.1_Missense_Mutation_p.N97D	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AGATGTCACCAATCCTTTGCA	0.313																																																0													107	100	103					8																	90784903		2203	4300	6503	SO:0001583	missense	8767			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.700A>G	8.37:g.90784903A>G	ENSP00000220751:p.Asn234Asp		B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740819	0.89573	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.61980	1.38;0.06	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45606	D	0.000345	T	0.72053	0.3413	L	0.37507	1.11	0.58432	D	0.999995	D	0.89917	1.0	D	0.79784	0.993	T	0.74746	-0.3561	10	0.72032	D	0.01	-25.1611	16.2668	0.82588	1.0:0.0:0.0:0.0	.	234	O43353	RIPK2_HUMAN	D	234;97	ENSP00000220751:N234D;ENSP00000441623:N97D	ENSP00000220751:N234D	N	+	1	0	RIPK2	90854040	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.022000	0.76431	2.240000	0.73641	0.533000	0.62120	AAT		0.313	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			G	90784903	A	G	90784903	3	3	183	1	0	0	0	0	1	0	0	0	13387	130	5	3	722	3	RIPK2	8	90784903	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3542768	90784903	55579119	328	11025											
SLC26A7	115111	broad.mit.edu	37	8	92378916	92378916	+	Missense_Mutation	SNP	T	T	C	rs370346859		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:92378916T>C	ENST00000276609.3	+	14	1836	c.1597T>C	c.(1597-1599)Tgt>Cgt	p.C533R	SLC26A7_ENST00000523719.1_Missense_Mutation_p.C533R|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.C533R	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GGAAAATGCCTGTAATCAGCC	0.333																																																0								T	ARG/CYS,ARG/CYS	0,4406		0,0,2203	96	99	98		1597,1597	-2.3	0	8		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC26A7	NM_052832.2,NM_134266.1	180,180	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	533/657,533/664	92378916	1,13005	2203	4300	6503	SO:0001583	missense	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1597T>C	8.37:g.92378916T>C	ENSP00000276609:p.Cys533Arg			Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	T	0.333	-0.955183	0.02285	0.0	1.16E-4	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.87729	-2.29;-2.29;-2.29	5.12	-2.29	0.06805	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.959419	0.08635	N	0.916499	T	0.73822	0.3636	L	0.29908	0.895	0.09310	N	1	B;B	0.20550	0.037;0.046	B;B	0.19666	0.015;0.026	T	0.55835	-0.8078	10	0.12766	T	0.61	.	3.57	0.07913	0.3615:0.0:0.2395:0.399	.	533;533	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	R	533	ENSP00000428849:C533R;ENSP00000276609:C533R;ENSP00000309504:C533R	ENSP00000276609:C533R	C	+	1	0	SLC26A7	92448092	0.000000	0.05858	0.000000	0.03702	0.658000	0.38924	0.358000	0.20216	-0.704000	0.05042	-0.339000	0.08088	TGT		0.333	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			C	92378916	T	C	92378916	3	2	183	1	0	0	0	0	1	0	0	0	14528	1580	55	3	1647	3	SLC26A7	8	92378916	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1594013	92378916	53985106	329	11026											
RBM12B	389677	broad.mit.edu	37	8	94745931	94745931	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:94745931A>G	ENST00000399300.2	-	3	2921	c.2708T>C	c.(2707-2709)aTg>aCg	p.M903T	RBM12B_ENST00000517700.1_Missense_Mutation_p.M783T|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	903							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AAAACTTCCCATATTATGCTT	0.398																																																0													142	146	144					8																	94745931		1808	4074	5882	SO:0001583	missense	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2708T>C	8.37:g.94745931A>G	ENSP00000382239:p.Met903Thr		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.191576	0.38707	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.07800	3.16;3.19	5.95	4.8	0.61643	.	1.084570	0.07059	N	0.833438	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	0.999997	B	0.17667	0.023	B	0.14023	0.01	T	0.28839	-1.0031	10	0.21014	T	0.42	0.7342	10.7674	0.46301	0.9265:0.0:0.0734:0.0	.	903	Q8IXT5	RB12B_HUMAN	T	903;783	ENSP00000382239:M903T;ENSP00000427729:M783T	ENSP00000382239:M903T	M	-	2	0	RBM12B	94815107	1.000000	0.71417	0.959000	0.39883	0.915000	0.54546	3.545000	0.53648	2.272000	0.75746	0.460000	0.39030	ATG		0.398	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		G	94745931	A	G	94745931	3	3	183	1	0	0	0	0	1	0	0	0	13120	217	8	3	301	3	RBM12B	8	94745931	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2367015	94745931	51618091	330	11027											
NIPAL2	79815	broad.mit.edu	37	8	99217418	99217418	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:99217418T>C	ENST00000341166.3	-	7	967	c.712A>G	c.(712-714)Atg>Gtg	p.M238V	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Missense_Mutation_p.M238V	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	238						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						ATTTTATCCATCACAGAAAAA	0.333																																																0													106	101	103					8																	99217418		2203	4300	6503	SO:0001583	missense	79815			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.712A>G	8.37:g.99217418T>C	ENSP00000339256:p.Met238Val		A2RTY8	Missense_Mutation	SNP	ENST00000341166.3	37	CCDS6278.1	.	.	.	.	.	.	.	.	.	.	T	2.070	-0.413298	0.04799	.	.	ENSG00000104361	ENST00000430223;ENST00000341166	D;D	0.89681	-2.55;-2.55	4.56	4.56	0.56223	.	0.517985	0.19914	N	0.103223	T	0.77671	0.4165	N	0.14661	0.345	0.20074	N	0.999936	B;B	0.12630	0.003;0.006	B;B	0.14023	0.002;0.01	T	0.63853	-0.6543	10	0.29301	T	0.29	0.1467	8.0905	0.30797	0.0:0.0933:0.0:0.9067	.	238;238	A2RTY8;Q9H841	.;NPAL2_HUMAN	V	238	ENSP00000407087:M238V;ENSP00000339256:M238V	ENSP00000339256:M238V	M	-	1	0	NIPAL2	99286594	0.996000	0.38824	0.923000	0.36655	0.737000	0.42083	3.846000	0.55888	1.673000	0.50895	0.379000	0.24179	ATG		0.333	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759		C	99217418	T	C	99217418	3	2	183	1	0	0	0	0	1	0	0	0	10427	1435	50	3	418	3	NIPAL2	8	99217418	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	4471487	99217418	47146604	331	11028											
RNF19A	25897	broad.mit.edu	37	8	101299911	101299911	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:101299911C>T	ENST00000519449.1	-	3	808	c.492G>A	c.(490-492)agG>agA	p.R164R	RNF19A_ENST00000341084.2_Silent_p.R164R	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	164					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AGATTTCTATCCTTAAATATT	0.373																																																0													103	107	106					8																	101299911		2203	4300	6503	SO:0001819	synonymous_variant	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.492G>A	8.37:g.101299911C>T			A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	37	CCDS6286.1																																																																																				0.373	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		T	101299911	C	T	101299911	2	4	183	1	0	0	0	0	0	0	0	1	13476	854	30	2		2	RNF19A	8	101299911	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2082493	101299911	45064111	332	11029											
UBR5	51366	broad.mit.edu	37	8	103372381	103372381	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:103372381A>G	ENST00000520539.1	-	5	910	c.304T>C	c.(304-306)Tca>Cca	p.S102P	UBR5_ENST00000521922.1_Missense_Mutation_p.S102P|UBR5_ENST00000220959.4_Missense_Mutation_p.S102P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	102					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCAGGCCTTGACGTCCTCCCT	0.493																																					Ovarian(131;96 1741 5634 7352 27489)											0													114	103	107					8																	103372381		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.304T>C	8.37:g.103372381A>G	ENSP00000429084:p.Ser102Pro		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.606202	0.66445	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49432	0.78;0.78;0.78	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.48370	0.1496	L	0.29908	0.895	0.80722	D	1	P;P	0.45531	0.86;0.86	P;P	0.52217	0.693;0.693	T	0.36529	-0.9744	10	0.27082	T	0.32	.	15.3605	0.74469	1.0:0.0:0.0:0.0	.	102;102	E7EMW7;O95071	.;UBR5_HUMAN	P	102	ENSP00000429084:S102P;ENSP00000220959:S102P;ENSP00000427819:S102P	ENSP00000220959:S102P	S	-	1	0	UBR5	103441557	1.000000	0.71417	0.084000	0.20598	0.963000	0.63663	8.942000	0.92970	2.038000	0.60285	0.445000	0.29226	TCA		0.493	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		G	103372381	A	G	103372381	3	3	183	1	0	0	0	0	1	0	0	0	16910	275	10	3	8315	3	UBR5	8	103372381	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2072470	103372381	42991641	333	11030											
TM7SF4	81501	broad.mit.edu	37	8	105367351	105367351	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:105367351delA	ENST00000297581.2	+	3	1325	c.1276delA	c.(1276-1278)aaafs	p.K427fs	DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	427					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AAAGCTGCTTAAAAAAAGATC	0.458																																																0													78	80	79					8																	105367351		2203	4300	6503	SO:0001589	frameshift_variant	81501			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1276delA	8.37:g.105367351delA	ENSP00000297581:p.Lys427fs		B7ZVW2|E7ESG0|Q2M2D5	Frame_Shift_Del	DEL	ENST00000297581.2	37	CCDS6301.1																																																																																				0.458	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		-	105367351	A	-	105367351	7	5	183	1	0	1	0	1	0	0	0	0	15981	363	13	0	1282	0	TM7SF4	8	105367351	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	1994970	105367351	40996671	334	11031											
ZFPM2	23414	broad.mit.edu	37	8	106646501	106646501	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:106646501C>T	ENST00000407775.2	+	5	698	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	ZFPM2_ENST00000517361.1_Silent_p.L18L|ZFPM2_ENST00000520492.1_Silent_p.L18L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	150					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAATGGTGCTGACTGCTGG	0.408																																																0													80	80	80					8																	106646501		2019	4190	6209	SO:0001819	synonymous_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.448C>T	8.37:g.106646501C>T			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																				0.408	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			T	106646501	C	T	106646501	2	4	183	1	0	0	0	0	0	0	0	1	17663	796	28	2		2	ZFPM2	8	106646501	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1279150	106646501	39717521	335	11032											
TTC35	9694	broad.mit.edu	37	8	109482097	109482097	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:109482097delA	ENST00000220853.3	+	6	441	c.406delA	c.(406-408)aaafs	p.K136fs	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	136						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AGCCCAGGGGAAAAATGTGGA	0.388																																																0													74	79	77					8																	109482097		2203	4300	6503	SO:0001589	frameshift_variant	9694			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.406delA	8.37:g.109482097delA	ENSP00000220853:p.Lys136fs		Q8WUE1	Frame_Shift_Del	DEL	ENST00000220853.3	37	CCDS6309.1																																																																																				0.388	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		-	109482097	A	-	109482097	7	5	183	1	0	1	0	1	0	0	0	0	16708	247	9	0	428	0	TTC35	8	109482097	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	2835596	109482097	36881925	336	11033											
EXT1	2131	broad.mit.edu	37	8	119122871	119122871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:119122871C>A	ENST00000378204.2	-	1	1221	c.415G>T	c.(415-417)Gag>Tag	p.E139*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	139					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGGAGCCCTCGATGGCCGCT	0.498			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													90	103	99					8																	119122871		2203	4300	6503	SO:0001587	stop_gained	2131	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.415G>T	8.37:g.119122871C>A	ENSP00000367446:p.Glu139*		B2R7V2|Q9BVI9	Nonsense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	C	45	12.068437	0.99632	.	.	ENSG00000182197	ENST00000378204	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-15.2576	19.3217	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000367446:E139X	E	-	1	0	EXT1	119192052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.896000	0.69822	2.558000	0.86282	0.462000	0.41574	GAG		0.498	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		A	119122871	C	A	119122871	4	1	183	1	0	0	0	0	0	1	0	0	5325	893	31	4	1869	4	EXT1	8	119122871	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	9640774	119122871	27241151	337	11034											
COL14A1	7373	broad.mit.edu	37	8	121216054	121216054	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:121216054G>C	ENST00000297848.3	+	9	1254	c.984G>C	c.(982-984)gaG>gaC	p.E328D	COL14A1_ENST00000537875.1_Missense_Mutation_p.E328D|COL14A1_ENST00000309791.4_Missense_Mutation_p.E328D|COL14A1_ENST00000247781.3_Missense_Mutation_p.E233D|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGTTGTGGAGAGTCTGACCA	0.468																																																0													121	103	109					8																	121216054		2203	4300	6503	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.984G>C	8.37:g.121216054G>C	ENSP00000297848:p.Glu328Asp			Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.422|3.422	-0.118020|-0.118020	0.06838|0.06838	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620|ENST00000523142	T;T;T;T;T|T	0.76709|0.53423	-1.04;-1.04;-1.04;0.71;0.71|0.62	5.21|5.21	2.33|2.33	0.28932|0.28932	von Willebrand factor, type A (3);|.	0.105111|0.105111	0.64402|0.64402	N|D	0.000006|0.000006	T|T	0.26991|0.26991	0.0661|0.0661	N|N	0.05414|0.05414	-0.055|-0.055	0.36162|0.36162	D|D	0.848194|0.848194	B;B|.	0.15719|.	0.001;0.014|.	B;B|.	0.17098|.	0.008;0.017|.	T|T	0.18618|0.18618	-1.0331|-1.0331	10|8	0.22109|0.28530	T|T	0.4|0.3	.|.	7.2802|7.2802	0.26308|0.26308	0.2154:0.1305:0.654:0.0|0.2154:0.1305:0.654:0.0	.|.	328;328|.	Q05707-2;Q05707|.	.;COEA1_HUMAN|.	D|Q	328;328;328;233;141|85	ENSP00000443974:E328D;ENSP00000311809:E328D;ENSP00000297848:E328D;ENSP00000247781:E233D;ENSP00000409461:E141D|ENSP00000429123:E85Q	ENSP00000247781:E233D|ENSP00000429123:E85Q	E|E	+|+	3|1	2|0	COL14A1|COL14A1	121285235|121285235	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	0.552000|0.552000	0.23376|0.23376	0.744000|0.744000	0.32741|0.32741	0.655000|0.655000	0.94253|0.94253	GAG|GAG		0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		C	121216054	G	C	121216054	3	2	183	1	0	0	0	0	1	0	0	0	3673	933	33	4	1014	4	COL14A1	8	121216054	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2093183	121216054	25147968	338	11035											
TRIB1	10221	broad.mit.edu	37	8	126445606	126445606	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:126445606G>A	ENST00000520847.1	+	0	164				TRIB1_ENST00000311922.3_Silent_p.Q136Q|TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000519576.1_5'Flank					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CTTACATCCAGCTGCCATCGC	0.507																																																0													196	199	198					8																	126445606		2203	4300	6503			10221			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"tribbles homolog 1 (Drosophila)"			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8			8.37:g.126445606G>A				Translation_Start_Site	SNP	ENST00000520847.1	37																																																																																					0.507	TRIB1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381431.1	NM_025195		A	126445606	G	A	126445606	1	1	183	1	0	1	0	0	0	0	0	0	16487	962	34	2		2	TRIB1	8	126445606	De_novo_Start_InFrame	SNP	G	TCGA-B0-5098-01A-01D-1421-08	5229552	126445606	19918416	339	11036											
COL22A1	169044	broad.mit.edu	37	8	139729066	139729066	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:139729066A>G	ENST00000303045.6	-	28	2847		c.e28+1		COL22A1_ENST00000341807.4_Splice_Site|COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AAACAAACAGACCTTCTCTCC	0.373										HNSCC(7;0.00092)																																						0													66	65	65					8																	139729066		2203	4300	6503	SO:0001630	splice_region_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2400+1T>C	8.37:g.139729066A>G			B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169610	0.57584	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8311	0.46661	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139798248	0.993000	0.37304	0.942000	0.38095	0.863000	0.49368	3.930000	0.56522	2.114000	0.64651	0.533000	0.62120	.		0.373	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Intron	G	139729066	A	G	139729066	5	3	183	1	0	0	0	0	0	0	1	0	3683	289	10	3	2630	3	COL22A1	8	139729066	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	13283460	139729066	6634956	340	11037											
EPPK1	83481	broad.mit.edu	37	8	144941154	144941154	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:144941154G>A	ENST00000525985.1	-	2	6339	c.6268C>T	c.(6268-6270)Cgg>Tgg	p.R2090W				P58107	EPIPL_HUMAN	epiplakin 1	2090						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGGAGTCCCGTGCAGCCTTG	0.597																																																0													79	86	84					8																	144941154		2162	4261	6423	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6268C>T	8.37:g.144941154G>A	ENSP00000436337:p.Arg2090Trp		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	G	16.85	3.236911	0.58886	.	.	ENSG00000227184	ENST00000525985	T	0.68765	-0.35	4.71	-6.56	0.01848	.	.	.	.	.	T	0.52468	0.1736	L	0.27053	0.805	0.09310	N	1	D	0.56746	0.977	P	0.47162	0.54	T	0.57980	-0.7717	9	0.66056	D	0.02	.	9.2318	0.37441	0.0:0.274:0.5665:0.1596	.	2090	E9PPU0	.	W	2090	ENSP00000436337:R2090W	ENSP00000436337:R2090W	R	-	1	2	EPPK1	145013142	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.063000	0.01388	-1.513000	0.01789	0.460000	0.39030	CGG		0.597	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144941154	G	A	144941154	3	1	183	1	0	0	0	0	1	0	0	0	5192	1144	40	1	998	1	EPPK1	8	144941154	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	5212088	144941154	1422868	341	11038											
PLEC	5339	broad.mit.edu	37	8	144992015	144992015	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:144992015G>A	ENST00000322810.4	-	32	12554	c.12385C>T	c.(12385-12387)Cgt>Tgt	p.R4129C	PLEC_ENST00000345136.3_Missense_Mutation_p.R3992C|PLEC_ENST00000398774.2_Missense_Mutation_p.R3960C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3996C|PLEC_ENST00000354958.2_Missense_Mutation_p.R3970C|PLEC_ENST00000356346.3_Missense_Mutation_p.R3978C|PLEC_ENST00000527096.1_Missense_Mutation_p.R4015C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3992C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4019C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4129	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATGCCCATACGCACAGCCTCC	0.647																																																0													41	48	46					8																	144992015		2185	4268	6453	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12385C>T	8.37:g.144992015G>A	ENSP00000323856:p.Arg4129Cys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	7.184	0.590188	0.13812	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.08	5.08	0.68730	.	0.099056	0.39475	U	0.001352	D	0.84955	0.5587	L	0.52011	1.625	0.58432	D	0.999993	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.67231	0.917;0.917;0.917;0.95;0.917;0.917;0.917;0.917	D	0.86268	0.1659	10	0.87932	D	0	.	18.2755	0.90081	0.0:0.0:1.0:0.0	.	4019;3978;3970;4129;3960;3992;3996;3992	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	3992;3996;3992;3960;4129;3970;3978;4019;4015	ENSP00000344848:R3992C;ENSP00000350277:R3996C;ENSP00000346602:R3992C;ENSP00000381756:R3960C;ENSP00000323856:R4129C;ENSP00000347044:R3970C;ENSP00000348702:R3978C;ENSP00000388180:R4019C;ENSP00000434583:R4015C	ENSP00000323856:R4129C	R	-	1	0	PLEC	145064003	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	4.915000	0.63355	2.654000	0.90174	0.549000	0.68633	CGT		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144992015	G	A	144992015	3	1	183	1	0	0	0	0	1	0	0	0	12054	1087	38	1	1673	1	PLEC	8	144992015	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	50861	144992015	1372007	342	11039											
HEATR7A	727957	broad.mit.edu	37	8	145246743	145246745	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr8:145246743_145246745delCTT	ENST00000528919.1	+	8	961_963	c.840_842delCTT	c.(838-843)accttc>acc	p.F281del	MROH1_ENST00000398656.4_In_Frame_Del_p.F281del|MROH1_ENST00000423230.2_In_Frame_Del_p.F281del|MROH1_ENST00000534366.1_In_Frame_Del_p.F281del|MROH1_ENST00000326134.5_In_Frame_Del_p.F281del	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	281																	ACGCAGAGACCTTCTACTTGTCC	0.621																																																0																																										SO:0001651	inframe_deletion	727957				CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"maestro heat-like repeat containing"	26958	protein-coding gene	gene with protein product			"HEAT repeat containing 7A"	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.840_842delCTT	8.37:g.145246743_145246745delCTT	ENSP00000435565:p.Phe281del		C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	In_Frame_Del	DEL	ENST00000528919.1	37	CCDS47938.1																																																																																				0.621	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		-	145246745	CTT	-	145246743	7	5	183	1	0	1	0	1	0	0	0	0	7036	668	24	0	866	0	HEATR7A	8	145246743	In_Frame_Del	DEL	CTT	TCGA-B0-5098-01A-01D-1421-08	254728	145246743	1117279	343	11040											
ERMP1	79956	broad.mit.edu	37	9	5811273	5811273	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:5811273C>T	ENST00000339450.5	-	7	1254	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	ERMP1_ENST00000381506.3_Missense_Mutation_p.A165T|ERMP1_ENST00000543230.1_5'Flank|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	389						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GAAGCAGCAGCCAGCATATCA	0.368																																																0													149	127	134					9																	5811273		2203	4300	6503	SO:0001583	missense	79956			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"Felix-ina"	611156	"KIAA1815"	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1165G>A	9.37:g.5811273C>T	ENSP00000340427:p.Ala389Thr		B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257760	0.59321	.	.	ENSG00000099219	ENST00000339450;ENST00000381506	T	0.47177	0.85	5.9	5.01	0.66863	.	0.166670	0.52532	D	0.000064	T	0.37705	0.1013	L	0.52573	1.65	0.48696	D	0.999699	P	0.41041	0.736	B	0.30646	0.118	T	0.22695	-1.0209	10	0.14656	T	0.56	-6.8246	16.7155	0.85397	0.0:0.7443:0.2557:0.0	.	389	Q7Z2K6	ERMP1_HUMAN	T	389;165	ENSP00000340427:A389T	ENSP00000340427:A389T	A	-	1	0	ERMP1	5801273	1.000000	0.71417	0.994000	0.49952	0.937000	0.57800	2.764000	0.47613	1.494000	0.48533	0.655000	0.94253	GCT		0.368	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		T	5811273	C	T	5811273	3	4	183	1	0	0	0	0	1	0	0	0	5238	739	26	2	1585	2	ERMP1	9	5811273	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08		5811273	135402158	344	11041											
SH3GL2	6456	broad.mit.edu	37	9	17787382	17787382	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:17787382A>G	ENST00000380607.4	+	5	456	c.336A>G	c.(334-336)ccA>ccG	p.P112P	SH3GL2_ENST00000537391.1_Silent_p.P65P	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	112	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TCCTAGGCCCAGCACTTGGTG	0.468																																																0													104	104	104					9																	17787382		2203	4300	6503	SO:0001819	synonymous_variant	6456			X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.336A>G	9.37:g.17787382A>G			B2R618|Q9NQK5	Silent	SNP	ENST00000380607.4	37	CCDS6483.1																																																																																				0.468	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		G	17787382	A	G	17787382	2	3	183	1	0	0	0	0	0	0	0	1	14257	175	7	3		3	SH3GL2	9	17787382	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	11976109	17787382	123426049	345	11042											
IFNA7	3444	broad.mit.edu	37	9	21201942	21201942	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:21201942G>T	ENST00000239347.3	-	1	262	c.223C>A	c.(223-225)Caa>Aaa	p.Q75K		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	75					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGATGGCTTGAGTCTTCTGG	0.483																																																0													126	120	122					9																	21201942		2203	4300	6503	SO:0001583	missense	3444				CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"Interferons"	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.223C>A	9.37:g.21201942G>T	ENSP00000239347:p.Gln75Lys		Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300601	0.40694	.	.	ENSG00000214042	ENST00000239347	T	0.06218	3.33	3.56	0.129	0.14739	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.496290	0.21683	N	0.070695	T	0.20861	0.0502	M	0.89414	3.03	0.09310	N	1	D	0.64830	0.994	D	0.71414	0.973	T	0.05649	-1.0872	10	0.72032	D	0.01	.	3.0494	0.06164	0.1078:0.3096:0.4256:0.157	.	75	P01567	IFNA7_HUMAN	K	75	ENSP00000239347:Q75K	ENSP00000239347:Q75K	Q	-	1	0	IFNA7	21191942	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	0.090000	0.15025	0.140000	0.18849	0.586000	0.80456	CAA		0.483	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		T	21201942	G	T	21201942	3	4	183	1	0	0	0	0	1	0	0	0	7544	1299	45	4	350	4	IFNA7	9	21201942	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	3414560	21201942	120011489	346	11043	84	2									
IFNA7	3444	broad.mit.edu	37	9	21201943	21201943	+	Silent	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:21201943A>T	ENST00000239347.3	-	1	261	c.222T>A	c.(220-222)acT>acA	p.T74T		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	74					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGATGGCTTGAGTCTTCTGGA	0.483																																																0													127	121	123					9																	21201943		2203	4300	6503	SO:0001819	synonymous_variant	3444				CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"Interferons"	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.222T>A	9.37:g.21201943A>T			Q14607|Q5VV14	Silent	SNP	ENST00000239347.3	37	CCDS34995.1																																																																																				0.483	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		T	21201943	A	T	21201943	2	4	183	1	0	0	0	0	0	0	0	1	7544	291	11	5		5	IFNA7	9	21201943	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1	21201943	120011488	347	11044	84	2									
TEK	7010	broad.mit.edu	37	9	27183560	27183560	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:27183560T>C	ENST00000380036.4	+	8	1576	c.1134T>C	c.(1132-1134)ccT>ccC	p.P378P	TEK_ENST00000519097.1_Silent_p.P231P|TEK_ENST00000406359.4_Silent_p.P335P	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	378	Ig-like C2-type 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGCCGCTACCTACTAATGAAG	0.433																																																0													143	158	153					9																	27183560		2203	4300	6503	SO:0001819	synonymous_variant	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1134T>C	9.37:g.27183560T>C			A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	CCDS6519.1																																																																																				0.433	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			C	27183560	T	C	27183560	2	2	183	1	0	0	0	0	0	0	0	1	15756	1509	53	3		3	TEK	9	27183560	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	5981617	27183560	114029871	348	11045											
BAG1	51510	broad.mit.edu	37	9	33264251	33264251	+	5'Flank	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:33264251G>A	ENST00000223500.8	+	0	0				CHMP5_ENST00000419016.2_5'Flank|BAG1_ENST00000379704.2_Missense_Mutation_p.A26V|BAG1_ENST00000472232.3_Missense_Mutation_p.A141V	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			GAGCCCAGCTGCCGCCATTTC	0.667																																																0													43	33	36					9																	33264251		2203	4300	6503	SO:0001631	upstream_gene_variant	573			AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"Charged multivesicular body proteins"	26942	protein-coding gene	gene with protein product		610900	"chromosome 9 open reading frame 83", "chromatin modifying protein 5"	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33264251G>A	Exception_encountered		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217077	0.58560	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781	.	.	.	4.68	2.7	0.31948	.	0.760298	0.12448	N	0.467986	T	0.24967	0.0606	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.11155	-1.0599	9	0.35671	T	0.21	-0.1614	4.5128	0.11919	0.1988:0.1839:0.6173:0.0	.	141	Q99933	BAG1_HUMAN	V	141;26;26;26	.	ENSP00000369022:A26V	A	-	2	0	BAG1	33254251	0.142000	0.22610	0.611000	0.29010	0.291000	0.27294	2.058000	0.41374	1.325000	0.45301	0.655000	0.94253	GCA		0.667	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		A	33264251	G	A	33264251	1	1	183	0	1	0	0	0	0	0	0	0	1286	1319	46	2		2	BAG1	9	33264251	5'Flank	SNP	G	TCGA-B0-5098-01A-01D-1421-08	6080691	33264251	107949180	349	11046											
KIF24	347240	broad.mit.edu	37	9	34257489	34257489	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:34257489C>T	ENST00000402558.2	-	10	2140	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	KIF24_ENST00000379174.3_Missense_Mutation_p.V572M|KIF24_ENST00000345050.2_Missense_Mutation_p.V572M|KIF24_ENST00000379166.2_Missense_Mutation_p.V706M			Q5T7B8	KIF24_HUMAN	kinesin family member 24	706					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ACTGTCTGCACTTTCTTGCAC	0.552																																																0													184	181	182					9																	34257489		2203	4300	6503	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2116G>A	9.37:g.34257489C>T	ENSP00000384433:p.Val706Met		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638658	0.67130	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.77750	-0.9;-1.12;-0.9;-1.12	5.69	5.69	0.88448	.	0.187622	0.26220	N	0.025622	T	0.81375	0.4809	M	0.78801	2.425	0.38500	D	0.948217	P	0.50272	0.933	P	0.47206	0.541	D	0.85319	0.1083	10	0.72032	D	0.01	.	13.0568	0.58984	0.0:0.9268:0.0:0.0732	.	706	Q5T7B8	KIF24_HUMAN	M	706;572;706;572;706	ENSP00000384433:V706M;ENSP00000368472:V572M;ENSP00000368464:V706M;ENSP00000340179:V572M	ENSP00000340179:V572M	V	-	1	0	KIF24	34247489	0.580000	0.26733	0.989000	0.46669	0.756000	0.42949	1.465000	0.35299	2.676000	0.91093	0.655000	0.94253	GTG		0.552	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			T	34257489	C	T	34257489	3	4	183	1	0	0	0	0	1	0	0	0	8294	565	20	2	2002	2	KIF24	9	34257489	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	993238	34257489	106955942	350	11047											
PIGO	84720	broad.mit.edu	37	9	35090187	35090187	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:35090187G>A	ENST00000378617.3	-	9	3339	c.2945C>T	c.(2944-2946)gCc>gTc	p.A982V	PIGO_ENST00000341666.3_Missense_Mutation_p.A982V|PIGO_ENST00000298004.5_Missense_Mutation_p.A565V|PIGO_ENST00000361778.2_Missense_Mutation_p.A565V	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	982					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGACTCTGGCATCAGCTTC	0.607																																																0													70	64	66					9																	35090187		2203	4300	6503	SO:0001583	missense	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2945C>T	9.37:g.35090187G>A	ENSP00000367880:p.Ala982Val		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	8.469	0.857040	0.17106	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.56941	0.46;0.43;0.43;0.46	4.85	3.01	0.34805	.	0.725894	0.12843	N	0.434625	T	0.32496	0.0831	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.12167	-1.0558	10	0.21014	T	0.42	-4.1235	3.1446	0.06467	0.0862:0.1452:0.4297:0.339	.	565;982	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	V	565;982;982;565	ENSP00000298004:A565V;ENSP00000367880:A982V;ENSP00000339382:A982V;ENSP00000354678:A565V	ENSP00000298004:A565V	A	-	2	0	PIGO	35080187	0.119000	0.22226	0.694000	0.30210	0.280000	0.26924	0.328000	0.19681	1.415000	0.47037	-0.122000	0.15005	GCC		0.607	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		A	35090187	G	A	35090187	3	1	183	1	0	0	0	0	1	0	0	0	11896	1203	42	2	336	2	PIGO	9	35090187	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	832698	35090187	106123244	351	11048											
TLN1	7094	broad.mit.edu	37	9	35714321	35714321	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:35714321T>G	ENST00000314888.9	-	24	3388	c.3035A>C	c.(3034-3036)cAg>cCg	p.Q1012P	TLN1_ENST00000540444.1_Missense_Mutation_p.Q1012P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1012					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCCTGGTCCTGAATCGTTGG	0.597																																																0													78	68	71					9																	35714321		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3035A>C	9.37:g.35714321T>G	ENSP00000316029:p.Gln1012Pro		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.445672	0.43429	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.67698	-0.28;-0.28	5.91	5.91	0.95273	.	0.244344	0.45361	D	0.000377	T	0.50017	0.1591	N	0.14661	0.345	0.35853	D	0.826892	B	0.06786	0.001	B	0.09377	0.004	T	0.56817	-0.7916	10	0.66056	D	0.02	-17.859	11.7572	0.51882	0.0:0.0:0.2616:0.7384	.	1012	Q9Y490	TLN1_HUMAN	P	1012	ENSP00000316029:Q1012P;ENSP00000442981:Q1012P	ENSP00000316029:Q1012P	Q	-	2	0	TLN1	35704321	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.073000	0.41519	2.266000	0.75297	0.533000	0.62120	CAG		0.597	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		G	35714321	T	G	35714321	3	3	183	1	0	0	0	0	1	0	0	0	15952	1580	55	5	4726	5	TLN1	9	35714321	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	624134	35714321	105499110	352	11049											
AGTPBP1	23287	broad.mit.edu	37	9	88207490	88207490	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:88207490C>T	ENST00000357081.3	-	19	2697	c.2553G>A	c.(2551-2553)acG>acA	p.T851T	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.T863T|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.T811T			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	851					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AAGTTGAATACGTATATGGAT	0.279																																																0													93	94	94					9																	88207490		2203	4297	6500	SO:0001819	synonymous_variant	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2553G>A	9.37:g.88207490C>T			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37																																																																																					0.279	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		T	88207490	C	T	88207490	2	4	183	1	0	0	0	0	0	0	0	1	400	523	19	1		1	AGTPBP1	9	88207490	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	52493169	88207490	53005941	353	11050											
NAA35	60560	broad.mit.edu	37	9	88631578	88631578	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:88631578delA	ENST00000361671.5	+	18	1826	c.1693delA	c.(1693-1695)aaafs	p.K568fs		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	568					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AAAAACAAAGAAAAAAAAGAA	0.378																																																0													44	46	45					9																	88631578		2203	4300	6503	SO:0001589	frameshift_variant	60560			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1693delA	9.37:g.88631578delA	ENSP00000354972:p.Lys568fs		Q5VZE6|Q9H631|Q9H703	Frame_Shift_Del	DEL	ENST00000361671.5	37	CCDS6673.1																																																																																				0.378	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		-	88631578	A	-	88631578	7	5	183	1	0	1	0	1	0	0	0	0	10125	247	9	0	1759	0	NAA35	9	88631578	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	424088	88631578	52581853	354	11051											
FAM75C1	441452	broad.mit.edu	37	9	90534182	90534182	+	RNA	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:90534182delT	ENST00000602681.1	+	0	928							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCATCTTGTCTCCCAGCGTCA	0.612																																																0													136	110	118					9																	90534182		692	1591	2283			441452			AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534182delT				RNA	DEL	ENST00000602681.1	37																																																																																					0.612	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		-	90534182	T	-	90534182	6	5	183	0	1	1	0	1	0	0	0	0	5625	1551	54	0		0	FAM75C1	9	90534182	RNA	DEL	T	TCGA-B0-5098-01A-01D-1421-08	1902604	90534182	50679249	355	11052											
WNK2	65268	broad.mit.edu	37	9	96051602	96051602	+	Silent	SNP	C	C	T	rs368320959		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:96051602C>T	ENST00000297954.4	+	20	4677	c.4677C>T	c.(4675-4677)acC>acT	p.T1559T	WNK2_ENST00000427277.2_Silent_p.T1134T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.T1171T|WNK2_ENST00000395477.2_Silent_p.T1522T|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1559					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGGGCCCACCGTCCCCCCAC	0.711																																																0								C		1,4345		0,1,2172	9	10	10		4566	-10.6	0	9		10	0,8514		0,0,4257	no	coding-synonymous	WNK2	NM_006648.3		0,1,6429	TT,TC,CC		0.0,0.023,0.0078		1522/2218	96051602	1,12859	2173	4257	6430	SO:0001819	synonymous_variant	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4677C>T	9.37:g.96051602C>T			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.112|0.112	-1.137232|-1.137232	0.01742|0.01742	2.3E-4|2.3E-4	0.0|0.0	ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251;ENST00000453718|ENST00000411624	.|.	.|.	.|.	5.32|5.32	-10.6|-10.6	0.00265|0.00265	.|.	.|.	.|.	.|.	.|.	T|T	0.21881|0.21881	0.0527|0.0527	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.15037|0.15037	-1.0451|-1.0451	4|4	.|.	.|.	.|.	.|.	6.8835|6.8835	0.24187|0.24187	0.0701:0.1259:0.197:0.6071|0.0701:0.1259:0.197:0.6071	.|.	.|.	.|.	.|.	L|C	1518;319;45|1126	.|.	.|.	P|R	+|+	2|1	0|0	WNK2|WNK2	95091423|95091423	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.056000|-2.056000	0.01396|0.01396	-2.024000|-2.024000	0.00936|0.00936	-0.975000|-0.975000	0.02590|0.02590	CCG|CGT		0.711	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		T	96051602	C	T	96051602	2	4	183	1	0	0	0	0	0	0	0	1	17383	639	23	1		1	WNK2	9	96051602	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	5517420	96051602	45161829	356	11053											
FAM120A	23196	broad.mit.edu	37	9	96278286	96278286	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:96278286delG	ENST00000277165.6	+	7	1347	c.1153delG	c.(1153-1155)gggfs	p.G386fs	FAM120A_ENST00000333936.5_Frame_Shift_Del_p.G386fs|FAM120A_ENST00000375389.3_Frame_Shift_Del_p.G386fs|FAM120A_ENST00000340893.4_Frame_Shift_Del_p.G386fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	386	Interaction with YES1, SRC and FYN.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCCAGCCCAGGGGGCGCCCC	0.647																																																0													5	4	4					9																	96278286		1729	2776	4505	SO:0001589	frameshift_variant	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1153delG	9.37:g.96278286delG	ENSP00000277165:p.Gly386fs		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Frame_Shift_Del	DEL	ENST00000277165.6	37	CCDS6706.1																																																																																				0.647	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		-	96278286	G	-	96278286	7	5	183	1	0	1	0	1	0	0	0	0	5417	1000	35	0	1179	0	FAM120A	9	96278286	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	226684	96278286	44935145	357	11054											
TMEM38B	55151	broad.mit.edu	37	9	108536277	108536277	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:108536277C>A	ENST00000374692.3	+	6	909	c.792C>A	c.(790-792)tcC>tcA	p.S264S	TMEM38B_ENST00000374688.1_Silent_p.S210S	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	264						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.S264S(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						AGTCACCTTCCAATGGCGTTG	0.408																																																1	Substitution - coding silent(1)	lung(1)											98	95	96					9																	108536277		2203	4299	6502	SO:0001819	synonymous_variant	55151			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.792C>A	9.37:g.108536277C>A			Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Silent	SNP	ENST00000374692.3	37	CCDS6768.1																																																																																				0.408	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		A	108536277	C	A	108536277	2	1	183	1	0	0	0	0	0	0	0	1	16165	581	21	4		4	TMEM38B	9	108536277	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	12257991	108536277	32677154	358	11055											
ZNF462	58499	broad.mit.edu	37	9	109734321	109734321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:109734321C>T	ENST00000277225.5	+	8	6752	c.6463C>T	c.(6463-6465)Cag>Tag	p.Q2155*	ZNF462_ENST00000441147.2_Nonsense_Mutation_p.Q1061*|ZNF462_ENST00000542028.1_Nonsense_Mutation_p.Q112*|ZNF462_ENST00000457913.1_Nonsense_Mutation_p.Q2215*|RP11-508N12.2_ENST00000439901.1_RNA			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2155					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGTTCAGCAGCAGTTGAACCA	0.517																																																0													82	85	84					9																	109734321		2203	4300	6503	SO:0001587	stop_gained	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6463C>T	9.37:g.109734321C>T	ENSP00000277225:p.Gln2155*		Q5T0T4|Q8N408	Nonsense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.358832|16.358832	0.99861|0.99861	.|.	.|.	ENSG00000148143|ENSG00000148143	ENST00000427098|ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.80088|.	0.4559|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75584|.	-0.3267|.	3|.	.|0.37606	.|T	.|0.19	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	56|2155;2215;1098;1061;112	.|.	.|ENSP00000277225:Q2155X	A|Q	+|+	2|1	0|0	ZNF462|ZNF462	108774142|108774142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.703000|5.703000	0.68340|0.68340	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.517	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		T	109734321	C	T	109734321	4	4	183	1	0	0	0	0	0	1	0	0	17931	711	25	2	6489	2	ZNF462	9	109734321	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1198044	109734321	31479110	359	11056											
TNC	3371	broad.mit.edu	37	9	117848833	117848833	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:117848833C>A	ENST00000350763.4	-	3	1588	c.1177G>T	c.(1177-1179)Gag>Tag	p.E393*	TNC_ENST00000535648.1_Nonsense_Mutation_p.E393*|TNC_ENST00000341037.4_Nonsense_Mutation_p.E393*|TNC_ENST00000537320.1_Nonsense_Mutation_p.E393*|TNC_ENST00000340094.3_Nonsense_Mutation_p.E393*|TNC_ENST00000346706.3_Nonsense_Mutation_p.E393*|TNC_ENST00000345230.3_Nonsense_Mutation_p.E393*|TNC_ENST00000542877.1_Nonsense_Mutation_p.E393*|TNC_ENST00000423613.2_Nonsense_Mutation_p.E393*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	393	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCATCACACTCACACCGCCCG	0.577																																																0													136	114	121					9																	117848833		2203	4300	6503	SO:0001587	stop_gained	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1177G>T	9.37:g.117848833C>A	ENSP00000265131:p.Glu393*		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	37	6.116246	0.97296	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.44	3.59	0.41128	.	0.211589	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.0841	0.53688	0.1367:0.7322:0.1311:0.0	.	.	.	.	X	393	.	ENSP00000344400:E393X	E	-	1	0	TNC	116888654	0.000000	0.05858	0.786000	0.31890	0.000000	0.00434	0.079000	0.14782	0.774000	0.33427	-1.154000	0.01816	GAG		0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117848833	C	A	117848833	4	1	183	1	0	0	0	0	0	1	0	0	16275	835	29	4	5532	4	TNC	9	117848833	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	8114512	117848833	23364598	360	11057											
NR6A1	2649	broad.mit.edu	37	9	127298227	127298227	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:127298227T>C	ENST00000487099.2	-	7	1166	c.1009A>G	c.(1009-1011)Agc>Ggc	p.S337G	NR6A1_ENST00000416460.2_Missense_Mutation_p.S332G|NR6A1_ENST00000344523.4_Missense_Mutation_p.S336G|NR6A1_ENST00000373584.3_Missense_Mutation_p.S333G	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	337					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						ATCTGCTTGCTGTAAACGGTG	0.532																																					Esophageal Squamous(192;272 2884 6208 20560)											0													153	128	136					9																	127298227		2203	4300	6503	SO:0001583	missense	2649			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1009A>G	9.37:g.127298227T>C	ENSP00000420267:p.Ser337Gly		O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021122	0.54576	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.03	5.03	0.67393	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.037866	0.85682	D	0.000000	D	0.92116	0.7501	N	0.17631	0.505	0.54753	D	0.999989	B;B;B	0.33171	0.27;0.257;0.4	B;B;B	0.36030	0.136;0.216;0.173	D	0.90674	0.4600	10	0.23302	T	0.38	.	14.6453	0.68756	0.0:0.0:0.0:1.0	.	333;337;332	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	G	337;333;332;336	ENSP00000420267:S337G;ENSP00000362686:S333G;ENSP00000413701:S332G;ENSP00000341135:S336G	ENSP00000341135:S336G	S	-	1	0	NR6A1	126338048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	2.185000	0.69588	0.460000	0.39030	AGC		0.532	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			C	127298227	T	C	127298227	3	2	183	1	0	0	0	0	1	0	0	0	10639	1580	55	3	449	3	NR6A1	9	127298227	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	9449394	127298227	13915204	361	11058											
ENG	2022	broad.mit.edu	37	9	130579468	130579468	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:130579468A>G	ENST00000373203.4	-	13	2101	c.1701T>C	c.(1699-1701)acT>acC	p.T567T	RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000344849.3_Silent_p.T567T|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_5'UTR	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	567	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCATGAAGACAGTCCTATGGA	0.577									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																																							0													131	115	120					9																	130579468		2203	4300	6503	SO:0001819	synonymous_variant	2022	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1701T>C	9.37:g.130579468A>G			Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	CCDS48029.1																																																																																				0.577	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			G	130579468	A	G	130579468	2	3	183	1	0	0	0	0	0	0	0	1	5119	175	7	3		3	ENG	9	130579468	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3281241	130579468	10633963	362	11059											
PKN3	29941	broad.mit.edu	37	9	131482247	131482247	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:131482247delC	ENST00000291906.4	+	20	2720	c.2327delC	c.(2326-2328)gccfs	p.A776fs	ZDHHC12_ENST00000467312.1_5'Flank|PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	776	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AACATGGACGCCCCCTACCCC	0.627																																																0													95	104	101					9																	131482247		2203	4300	6503	SO:0001589	frameshift_variant	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2327delC	9.37:g.131482247delC	ENSP00000291906:p.Ala776fs		Q9UM03	Frame_Shift_Del	DEL	ENST00000291906.4	37	CCDS6908.1																																																																																				0.627	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		-	131482247	C	-	131482247	7	5	183	1	0	1	0	1	0	0	0	0	11983	739	26	0	2405	0	PKN3	9	131482247	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	902779	131482247	9731184	363	11060											
GPR107	57720	broad.mit.edu	37	9	132897302	132897302	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:132897302A>G	ENST00000372406.1	+	20	2213		c.e20-1		GPR107_ENST00000372410.3_Splice_Site|GPR107_ENST00000347136.6_Splice_Site	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107							integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTCCTTGTTCAGTGTGACAAC	0.498																																																0													106	92	97					9																	132897302		2203	4300	6503	SO:0001630	splice_region_variant	57720			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1707-1A>G	9.37:g.132897302A>G			A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Splice_Site	SNP	ENST00000372406.1	37	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641965	0.29157	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7113	0.57092	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR107	131937123	1.000000	0.71417	0.801000	0.32222	0.103000	0.19146	6.672000	0.74477	2.018000	0.59344	0.379000	0.24179	.		0.498	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2		Intron	G	132897302	A	G	132897302	5	3	183	1	0	0	0	0	0	0	1	0	6625	202	7	3	1783	3	GPR107	9	132897302	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1415055	132897302	8316129	364	11061											
C9orf96	169436	broad.mit.edu	37	9	136255356	136255356	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:136255356T>C	ENST00000371957.3	+	6	550	c.443T>C	c.(442-444)cTg>cCg	p.L148P	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGGAATACCTGCACCATTTG	0.622																																																0													107	82	90					9																	136255356		2202	4300	6502	SO:0001583	missense	169436																														ENST00000371957.3:c.443T>C	9.37:g.136255356T>C	ENSP00000361025:p.Leu148Pro		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745998	0.69418	.	.	ENSG00000198870	ENST00000371957	T	0.40476	1.03	4.89	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.143104	0.31847	N	0.006962	T	0.73434	0.3586	H	0.96996	3.92	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	T	0.81684	-0.0821	10	0.87932	D	0	-20.6852	11.2292	0.48901	0.0:0.0:0.0:1.0	.	148	Q8NE28	SGK71_HUMAN	P	148	ENSP00000361025:L148P	ENSP00000361025:L148P	L	+	2	0	C9orf96	135245177	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	3.984000	0.56923	1.966000	0.57179	0.524000	0.50904	CTG		0.622	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			C	136255356	T	C	136255356	3	2	183	1	0	0	0	0	1	0	0	0	2510	1580	55	3	465	3	C9orf96	9	136255356	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	3358054	136255356	4958075	365	11062											
EXD3	54932	broad.mit.edu	37	9	140243598	140243598	+	Silent	SNP	G	G	A	rs368133491		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:140243598G>A	ENST00000340951.4	-	16	1989	c.1794C>T	c.(1792-1794)ggC>ggT	p.G598G	EXD3_ENST00000342129.4_Silent_p.G278G	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CTTTCTGCAGGCCGGGTGGCT	0.667																																																0													17	22	20					9																	140243598		1979	4146	6125	SO:0001819	synonymous_variant	54932				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1794C>T	9.37:g.140243598G>A			Q6P1M1|Q8IXT8	Silent	SNP	ENST00000340951.4	37	CCDS48066.1																																																																																				0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		A	140243598	G	A	140243598	2	1	183	1	0	0	0	0	0	0	0	1	5301	1190	42	2		2	EXD3	9	140243598	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	3988242	140243598	969833	366	11063											
NOXA1	377841	broad.mit.edu	37	9	140327515	140327516	+	IGR	DEL	CT	CT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr9:140327515_140327516delCT	ENST00000472938.1	-	0	1749				NOXA1_ENST00000392815.2_Frame_Shift_Del_p.P224fs|NOXA1_ENST00000341349.2_Frame_Shift_Del_p.P280fs			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		AAACAGGCTCCTCTCTCCCCAG	0.683																																																0																																										SO:0001628	intergenic_variant	10811			AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140327519_140327520delCT			A2BG17|Q6UVZ0	Frame_Shift_Del	DEL	ENST00000472938.1	37	CCDS43913.1																																																																																				0.683	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		-	140327516	CT	-	140327515	6	5	183	0	1	1	0	1	0	0	0	0	10562	681	24	0		0	NOXA1	9	140327515	IGR	DEL	CT	TCGA-B0-5098-01A-01D-1421-08	83917	140327515	885916	367	11064											
UCN3	114131	broad.mit.edu	37	10	5415994	5415994	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:5415994G>T	ENST00000380433.3	+	2	539	c.311G>T	c.(310-312)aGg>aTg	p.R104M		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	104					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						GCACAGCCCAGGGGAAAGCCA	0.602																																																0													68	67	68					10																	5415994		2203	4300	6503	SO:0001583	missense	114131			AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"Endogenous ligands"	17781	protein-coding gene	gene with protein product	"stresscopin", "prepro-urocortin 3"	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.311G>T	10.37:g.5415994G>T	ENSP00000369798:p.Arg104Met		Q496H2|Q5SR91	Missense_Mutation	SNP	ENST00000380433.3	37	CCDS7065.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908052	0.33721	.	.	ENSG00000178473	ENST00000380433	T	0.36699	1.24	5.59	-4.06	0.03986	.	0.349623	0.29737	N	0.011324	T	0.31765	0.0807	L	0.38175	1.15	0.09310	N	1	D	0.63880	0.993	P	0.53185	0.72	T	0.34675	-0.9819	10	0.44086	T	0.13	-4.4205	9.446	0.38697	0.7311:0.1236:0.1453:0.0	.	104	Q969E3	UCN3_HUMAN	M	104	ENSP00000369798:R104M	ENSP00000369798:R104M	R	+	2	0	UCN3	5405994	0.010000	0.17322	0.000000	0.03702	0.018000	0.09664	0.044000	0.13992	-0.227000	0.09884	0.491000	0.48974	AGG		0.602	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		T	5415994	G	T	5415994	3	4	183	1	0	0	0	0	1	0	0	0	16934	1000	35	4	313	4	UCN3	10	5415994	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08		5415994	130118753	368	11065											
ASB13	79754	broad.mit.edu	37	10	5690974	5690974	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:5690974G>A	ENST00000357700.6	-	4	502	c.476C>T	c.(475-477)gCc>gTc	p.A159V	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	159					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		ATGCTCCCGGGCACAGGCAAC	0.572																																																0													121	108	112					10																	5690974		2203	4300	6503	SO:0001583	missense	79754			AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"Ankyrin repeat domain containing"	19765	protein-coding gene	gene with protein product		615055	"ankyrin repeat and SOCS box-containing 13"			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.476C>T	10.37:g.5690974G>A	ENSP00000350331:p.Ala159Val		A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	ENST00000357700.6	37	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402800	0.62288	.	.	ENSG00000196372	ENST00000357700	T	0.65178	-0.14	4.8	4.8	0.61643	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	L	0.39397	1.21	0.58432	D	0.999999	B;P	0.38677	0.093;0.642	B;B	0.42112	0.022;0.376	T	0.52909	-0.8512	10	0.15066	T	0.55	-5.7578	17.4626	0.87623	0.0:0.0:1.0:0.0	.	159;159	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	V	159	ENSP00000350331:A159V	ENSP00000350331:A159V	A	-	2	0	ASB13	5730980	1.000000	0.71417	0.981000	0.43875	0.787000	0.44495	5.408000	0.66368	2.227000	0.72691	0.313000	0.20887	GCC		0.572	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			A	5690974	G	A	5690974	3	1	183	1	0	0	0	0	1	0	0	0	1017	1203	42	2	372	2	ASB13	10	5690974	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	274980	5690974	129843773	369	11066											
FBXO18	84893	broad.mit.edu	37	10	5950982	5950982	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:5950982delA	ENST00000362091.4	+	4	963	c.848delA	c.(847-849)gaafs	p.E283fs	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Frame_Shift_Del_p.E334fs|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	283					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGTGGCATAGAAAAGGAGTCA	0.468																																																0													220	200	207					10																	5950982		2203	4300	6503	SO:0001589	frameshift_variant	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.848delA	10.37:g.5950982delA	ENSP00000355415:p.Glu283fs		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Frame_Shift_Del	DEL	ENST00000362091.4	37	CCDS7072.1																																																																																				0.468	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		-	5950982	A	-	5950982	7	5	183	1	0	1	0	1	0	0	0	0	5733	246	9	0	1024	0	FBXO18	10	5950982	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	260008	5950982	129583765	370	11067											
ITIH2	3698	broad.mit.edu	37	10	7777015	7777015	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:7777015C>T	ENST00000358415.4	+	15	2084	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	ITIH2_ENST00000379587.4_Silent_p.L629L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	640					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGAGCGCATGCTGGCGGATGC	0.617																																																0													52	44	47					10																	7777015		2203	4300	6503	SO:0001819	synonymous_variant	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1918C>T	10.37:g.7777015C>T			Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																				0.617	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		T	7777015	C	T	7777015	2	4	183	1	0	0	0	0	0	0	0	1	7906	796	28	2		2	ITIH2	10	7777015	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1826033	7777015	127757732	371	11068											
ITIH2	3698	broad.mit.edu	37	10	7791150	7791150	+	Splice_Site	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:7791150G>A	ENST00000358415.4	+	21	2860	c.2694G>A	c.(2692-2694)agG>agA	p.R898R	ITIH2_ENST00000379587.4_Splice_Site_p.R887R	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	898					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCCTTGCAGGGGCTTACAGA	0.493																																																0													198	170	179					10																	7791150		2203	4300	6503	SO:0001630	splice_region_variant	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2694-1G>A	10.37:g.7791150G>A			Q14659|Q15484|Q5T986	Splice_Site	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																				0.493	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	Silent	A	7791150	G	A	7791150	5	1	183	1	0	0	0	0	0	0	1	0	7906	1246	43	2	2776	2	ITIH2	10	7791150	Splice_Site	SNP	G	TCGA-B0-5098-01A-01D-1421-08	14135	7791150	127743597	372	11069											
OLAH	55301	broad.mit.edu	37	10	15113840	15113840	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:15113840T>A	ENST00000378228.3	+	7	873	c.619T>A	c.(619-621)Ttt>Att	p.F207I	OLAH_ENST00000485251.1_Intron|OLAH_ENST00000378217.3_Missense_Mutation_p.F260I	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	207					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTTGACATGTTTTGTTGGATC	0.328																																																0													231	219	223					10																	15113840		2203	4300	6503	SO:0001583	missense	55301			AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"thioesterase domain containing 1"	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.619T>A	10.37:g.15113840T>A	ENSP00000367473:p.Phe207Ile		Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	t	17.08	3.297486	0.60086	.	.	ENSG00000152463	ENST00000378228;ENST00000378217	.	.	.	4.79	2.34	0.29019	Thioesterase (1);	0.099961	0.64402	N	0.000001	T	0.64091	0.2567	M	0.75150	2.29	0.19300	N	0.99997	D;P	0.89917	1.0;0.713	D;B	0.97110	1.0;0.303	T	0.54977	-0.8212	9	0.56958	D	0.05	-4.3439	9.5261	0.39165	0.2808:0.0:0.0:0.7192	.	207;260	Q9NV23;Q9NV23-2	SAST_HUMAN;.	I	207;260	.	ENSP00000367462:F260I	F	+	1	0	OLAH	15153846	0.708000	0.27876	0.000000	0.03702	0.087000	0.18053	1.617000	0.36943	0.374000	0.24650	0.363000	0.22086	TTT		0.328	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		A	15113840	T	A	15113840	3	1	183	1	0	0	0	0	1	0	0	0	10853	1841	64	5	804	5	OLAH	10	15113840	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	7322690	15113840	120420907	373	11070											
CUBN	8029	broad.mit.edu	37	10	17164806	17164806	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:17164806A>G	ENST00000377833.4	-	6	646	c.581T>C	c.(580-582)aTg>aCg	p.M194T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	194	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTAACTTCCCATTGTATTAAC	0.368																																																0													63	56	59					10																	17164806		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.581T>C	10.37:g.17164806A>G	ENSP00000367064:p.Met194Thr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	3.532	-0.095500	0.07010	.	.	ENSG00000107611	ENST00000377833;ENST00000433666	D;D	0.91686	-2.89;-2.89	5.22	-2.01	0.07410	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	2.038200	0.02936	N	0.139880	T	0.82153	0.4975	N	0.08118	0	0.09310	N	1	B	0.21520	0.057	B	0.21708	0.036	T	0.70802	-0.4773	10	0.30854	T	0.27	.	6.003	0.19531	0.3163:0.0:0.5631:0.1206	.	194	O60494	CUBN_HUMAN	T	194;81	ENSP00000367064:M194T;ENSP00000415970:M81T	ENSP00000367064:M194T	M	-	2	0	CUBN	17204812	0.843000	0.29541	0.001000	0.08648	0.607000	0.37147	1.873000	0.39558	-0.805000	0.04404	0.533000	0.62120	ATG		0.368	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	17164806	A	G	17164806	3	3	183	1	0	0	0	0	1	0	0	0	4053	217	8	3	10538	3	CUBN	10	17164806	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2050966	17164806	118369941	374	11071											
MRC1	4360	broad.mit.edu	37	10	18122710	18122710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:18122710G>A	ENST00000239761.3	+	4	823	c.720G>A	c.(718-720)tgG>tgA	p.W240*		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	240	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CTTTAACGTGGCACCAAGCGA	0.463																																					GBM(115;1153 1594 28187 28781 35884)											0													85	76	79					10																	18122710		1622	3591	5213	SO:0001587	stop_gained	4360			J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"CD molecules", "C-type lectin domain containing"	7228	protein-coding gene	gene with protein product		153618	"mannose receptor, C type 1-like 1"	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.720G>A	10.37:g.18122710G>A	ENSP00000239761:p.Trp240*		A5PKW3|Q5VSJ2|Q5VSK2	Nonsense_Mutation	SNP	ENST00000239761.3	37	CCDS7123.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369048	0.82463	.	.	ENSG00000120586	ENST00000239761	.	.	.	3.57	3.57	0.40892	.	0.000000	0.52532	U	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8111	15.3319	0.74219	0.0:0.0:1.0:0.0	.	.	.	.	X	240	.	ENSP00000239761:W240X	W	+	3	0	MRC1	18162716	1.000000	0.71417	0.991000	0.47740	0.051000	0.14879	9.465000	0.97660	1.804000	0.52760	0.436000	0.28706	TGG		0.463	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047057.1	NM_002438		A	18122710	G	A	18122710	4	1	183	1	0	0	0	0	0	1	0	0	9758	1212	42	2	5225	2	MRC1	10	18122710	Nonsense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	957904	18122710	117412037	375	11072											
KIF5B	3799	broad.mit.edu	37	10	32307245	32307245	+	Splice_Site	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:32307245T>A	ENST00000302418.4	-	22	2895	c.2438A>T	c.(2437-2439)aAg>aTg	p.K813M	KIF5B_ENST00000493889.1_Intron	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	813					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTACATTACCTTTTTAACTCT	0.373			T	"RET, ALK"	NSCLC																																		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													117	112	113					10																	32307245		2203	4300	6503	SO:0001630	splice_region_variant	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2439+1A>T	10.37:g.32307245T>A			A0AVB2|Q5VZ85	Splice_Site	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230734	0.79688	.	.	ENSG00000170759	ENST00000302418	T	0.79247	-1.25	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	M	0.87547	2.89	0.58432	D	0.999991	D	0.76494	0.999	D	0.70227	0.968	D	0.91082	0.4900	10	0.87932	D	0	.	15.1757	0.72910	0.0:0.0:0.0:1.0	.	813	P33176	KINH_HUMAN	M	813	ENSP00000307078:K813M	ENSP00000307078:K813M	K	-	2	0	KIF5B	32347251	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.225000	0.72271	2.047000	0.60756	0.482000	0.46254	AAG		0.373	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	Missense_Mutation	A	32307245	T	A	32307245	5	1	183	1	0	0	0	0	0	0	1	0	8308	1623	56	5	469	5	KIF5B	10	32307245	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	14184535	32307245	103227502	376	11073											
ANKRD30A	91074	broad.mit.edu	37	10	37442500	37442500	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:37442500A>G	ENST00000602533.1	+	13	1639	c.1540A>G	c.(1540-1542)Agt>Ggt	p.S514G	ANKRD30A_ENST00000361713.1_Splice_Site_p.S514G|ANKRD30A_ENST00000374660.1_Splice_Site_p.S514G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	570					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTTTTAACAGAGTCTCTGTGA	0.284																																																0													79	83	82					10																	37442500		1789	4053	5842	SO:0001630	splice_region_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1540-1A>G	10.37:g.37442500A>G			Q5W025	Splice_Site	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	8.256	0.810018	0.16537	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05199	3.48;3.48	1.47	1.47	0.22746	.	.	.	.	.	T	0.03783	0.0107	L	0.29908	0.895	0.20196	N	0.999924	P	0.44006	0.824	B	0.34138	0.176	T	0.41466	-0.9507	8	.	.	.	.	5.1116	0.14811	1.0:0.0:0.0:0.0	.	570	Q9BXX3	AN30A_HUMAN	G	514	ENSP00000354432:S514G;ENSP00000363792:S514G	.	S	+	1	0	ANKRD30A	37482506	0.983000	0.35010	0.468000	0.27192	0.014000	0.08584	1.079000	0.30766	0.941000	0.37499	0.315000	0.21342	AGT		0.284	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	Missense_Mutation	G	37442500	A	G	37442500	5	3	183	1	0	0	0	0	0	0	1	0	658	318	11	3	1590	3	ANKRD30A	10	37442500	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	5135255	37442500	98092247	377	11074											
RASGEF1A	221002	broad.mit.edu	37	10	43696217	43696217	+	Silent	SNP	C	C	T	rs61758758	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:43696217C>T	ENST00000395809.1	-	5	3085	c.579G>A	c.(577-579)aaG>aaA	p.K193K	RASGEF1A_ENST00000395810.1_Silent_p.K193K|RASGEF1A_ENST00000374459.1_Silent_p.K201K|RASGEF1A_ENST00000472864.1_5'UTR			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	193					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGATGGGCCCCTTGTCTACAG	0.642													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17748	0.0		0.001	False		,,,				2504	0.0															0								C		2,4404	4.2+/-10.8	0,2,2201	66	58	61		579	3.9	1	10	dbSNP_129	61	14,8586	9.8+/-36.6	0,14,4286	no	coding-synonymous	RASGEF1A	NM_145313.2		0,16,6487	TT,TC,CC		0.1628,0.0454,0.123		193/482	43696217	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	221002			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.579G>A	10.37:g.43696217C>T			Q8TBF1	Silent	SNP	ENST00000395809.1	37	CCDS7202.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.139	-0.397167	0.04899	4.54E-4	0.001628	ENSG00000198915	ENST00000374455	.	.	.	5.04	3.91	0.45181	.	.	.	.	.	T	0.58864	0.2152	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54248	-0.8322	4	.	.	.	.	8.9653	0.35872	0.0:0.1599:0.0:0.8401	rs61758758	.	.	.	R	95	.	.	G	-	1	0	RASGEF1A	43016223	0.975000	0.34042	1.000000	0.80357	0.242000	0.25591	0.098000	0.15189	0.775000	0.33450	-0.391000	0.06502	GGG		0.642	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		T	43696217	C	T	43696217	2	4	183	1	0	0	0	0	0	0	0	1	13075	680	24	2		2	RASGEF1A	10	43696217	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	6253717	43696217	91838530	378	11075											
ZNF32	7580	broad.mit.edu	37	10	44139700	44139700	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:44139700T>C	ENST00000395797.1	-	3	808	c.620A>G	c.(619-621)cAc>cGc	p.H207R	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.H207R|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GACTCTGATGTGAACAATTAA	0.478																																																0													140	133	135					10																	44139700		2203	4300	6503	SO:0001583	missense	7580			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.620A>G	10.37:g.44139700T>C	ENSP00000379143:p.His207Arg		Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765139	0.69878	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	D;D	0.86865	-2.18;-2.18	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000090	D	0.95056	0.8399	H	0.95679	3.705	0.53688	D	0.999971	D	0.71674	0.998	D	0.85130	0.997	D	0.95959	0.8960	10	0.87932	D	0	-10.9251	12.7252	0.57166	0.0:0.0:0.0:1.0	.	207	P17041	ZNF32_HUMAN	R	207	ENSP00000363556:H207R;ENSP00000379143:H207R	ENSP00000363556:H207R	H	-	2	0	ZNF32	43459706	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.319000	0.78375	0.533000	0.62120	CAC		0.478	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		C	44139700	T	C	44139700	3	2	183	1	0	0	0	0	1	0	0	0	17843	1696	59	3	205	3	ZNF32	10	44139700	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	443483	44139700	91395047	379	11076											
MARCH8	220972	broad.mit.edu	37	10	45953840	45953840	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:45953840A>G	ENST00000319836.3	-	7	1472	c.723T>C	c.(721-723)tgT>tgC	p.C241C	MARCH8_ENST00000395771.3_Silent_p.C241C|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Silent_p.C241C|MARCH8_ENST00000453424.2_Silent_p.C523C	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	241					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TTGTTTCTGGACAGTTTTGAA	0.358																																					NSCLC(102;658 1594 2173 16344 34808)											0													143	149	147					10																	45953840		2203	4300	6503	SO:0001819	synonymous_variant	220972			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	23356	protein-coding gene	gene with protein product		613335	"c-mir, cellular modulator of immune recognition", "membrane-associated ring finger (C3HC4) 8"	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.723T>C	10.37:g.45953840A>G			B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Silent	SNP	ENST00000319836.3	37	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	A	9.503	1.103835	0.20632	.	.	ENSG00000165406	ENST00000453424	.	.	.	5.67	0.682	0.17992	.	.	.	.	.	T	0.55862	0.1947	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46091	-0.9216	4	.	.	.	-15.552	8.9009	0.35495	0.5462:0.0:0.4538:0.0	.	.	.	.	P	406	.	.	S	-	1	0	MARCH8	45273846	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.532000	0.36029	-0.113000	0.11958	0.533000	0.62120	TCC		0.358	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		G	45953840	A	G	45953840	2	3	183	1	0	0	0	0	0	0	0	1	9309	273	10	3		3	MARCH8	10	45953840	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1814140	45953840	89580907	380	11077											
SYT15	83849	broad.mit.edu	37	10	46963839	46963839	+	Splice_Site	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:46963839C>T	ENST00000374321.4	-	7	1190		c.e7+1		SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000374323.4_Splice_Site|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Splice_Site|SYT15_ENST00000503753.1_Splice_Site	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGTGGCCTTACTGTCCCCTTC	0.602																																					Ovarian(57;1152 1428 19651 37745)											0													99	100	100					10																	46963839		2136	4233	6369	SO:0001630	splice_region_variant	83849			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1123+1G>A	10.37:g.46963839C>T			A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Splice_Site	SNP	ENST00000374321.4	37	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506432	0.64410	.	.	ENSG00000204176	ENST00000374328;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6189	0.76790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYT15	46383845	0.999000	0.42202	0.860000	0.33809	0.758000	0.43043	4.909000	0.63314	2.474000	0.83562	0.650000	0.86243	.		0.602	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912	Intron	T	46963839	C	T	46963839	5	4	183	1	0	0	0	0	0	0	1	0	15476	579	20	2	203	2	SYT15	10	46963839	Splice_Site	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1009999	46963839	88570908	381	11078											
GDF10	2662	broad.mit.edu	37	10	48429372	48429372	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:48429372G>A	ENST00000224605.2	-	2	779	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	172					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGAAGAGCAGGTGCTGGCGT	0.741																																																0													15	22	20					10																	48429372		2196	4284	6480	SO:0001819	synonymous_variant	2662			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.514C>T	10.37:g.48429372G>A			Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	CCDS7220.1																																																																																				0.741	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		A	48429372	G	A	48429372	2	1	183	1	0	0	0	0	0	0	0	1	6313	991	35	2		2	GDF10	10	48429372	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1465533	48429372	87105375	382	11079											
NCOA4	8031	broad.mit.edu	37	10	51584973	51584973	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:51584973G>A	ENST00000443446.1	+	8	1301	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	NCOA4_ENST00000374082.1_Missense_Mutation_p.V358M|NCOA4_ENST00000452682.1_Missense_Mutation_p.V374M|NCOA4_ENST00000430396.2_Missense_Mutation_p.V258M|NCOA4_ENST00000438493.1_Missense_Mutation_p.V374M|NCOA4_ENST00000414907.2_Missense_Mutation_p.V192M|NCOA4_ENST00000374087.4_Missense_Mutation_p.V358M|NCOA4_ENST00000344348.6_Missense_Mutation_p.V358M	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	358					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCCCAAAGGTGTGGAGATTGA	0.473			T	RET	papillary thyroid																																		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	0													50	50	50					10																	51584973		2203	4300	6503	SO:0001583	missense	8031			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1072G>A	10.37:g.51584973G>A	ENSP00000390713:p.Val358Met		A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617520	0.66787	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.03	5.13	0.70059	.	0.176683	0.48767	N	0.000166	T	0.47358	0.1441	M	0.74258	2.255	0.44366	D	0.997263	D;D;D;D	0.53312	0.959;0.959;0.959;0.959	P;P;P;P	0.47744	0.556;0.556;0.556;0.556	T	0.50533	-0.8817	9	.	.	.	-14.3645	7.7289	0.28775	0.14:0.1352:0.7248:0.0	.	258;374;374;358	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	M	374;374;258;358;192;358;358;358	ENSP00000405146:V374M;ENSP00000395465:V374M;ENSP00000393053:V258M;ENSP00000363200:V358M;ENSP00000411018:V192M;ENSP00000344552:V358M;ENSP00000363195:V358M;ENSP00000390713:V358M	.	V	+	1	0	NCOA4	51254979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.466000	0.45084	1.562000	0.49601	0.655000	0.94253	GTG		0.473	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		A	51584973	G	A	51584973	3	1	183	1	0	0	0	0	1	0	0	0	10233	1377	48	2	1150	2	NCOA4	10	51584973	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	3155601	51584973	83949774	383	11080											
IPMK	253430	broad.mit.edu	37	10	59956101	59956101	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:59956101A>G	ENST00000373935.3	-	6	1309	c.987T>C	c.(985-987)caT>caC	p.H329H		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	329					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TCTGACTGTGATGCTTTTTTG	0.388																																																0													172	177	175					10																	59956101		2203	4300	6503	SO:0001819	synonymous_variant	253430			AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.987T>C	10.37:g.59956101A>G				Silent	SNP	ENST00000373935.3	37	CCDS7250.1																																																																																				0.388	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		G	59956101	A	G	59956101	2	3	183	1	0	0	0	0	0	0	0	1	7794	330	12	3		3	IPMK	10	59956101	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	8371128	59956101	75578646	384	11081											
ANK3	288	broad.mit.edu	37	10	61967865	61967865	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:61967865C>T	ENST00000280772.2	-	10	1314	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	ANK3_ENST00000503366.1_Missense_Mutation_p.A358T|ANK3_ENST00000373827.2_Missense_Mutation_p.A369T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	375					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCACAGTGGGCAGCCACGTGT	0.522																																																0													162	135	144					10																	61967865		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1123G>A	10.37:g.61967865C>T	ENSP00000280772:p.Ala375Thr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133393	0.94517	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304	T;T;T	0.71817	-0.6;-0.6;-0.6	4.78	4.78	0.61160	Ankyrin repeat-containing domain (4);	0.000000	0.41938	D	0.000796	D	0.83161	0.5194	M	0.66939	2.045	0.80722	D	1	P;D;P;D	0.89917	0.904;1.0;0.926;1.0	B;D;P;D	0.91635	0.431;0.99;0.759;0.999	D	0.85251	0.1044	10	0.87932	D	0	.	18.0096	0.89219	0.0:1.0:0.0:0.0	.	358;36;369;375	E9PE32;E7EMJ1;Q5CZH9;Q12955	.;.;.;ANK3_HUMAN	T	375;369;358;337;36;36	ENSP00000280772:A375T;ENSP00000362933:A369T;ENSP00000425236:A358T	ENSP00000280772:A375T	A	-	1	0	ANK3	61637871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.778000	0.68940	2.488000	0.83962	0.563000	0.77884	GCC		0.522	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61967865	C	T	61967865	3	4	183	1	0	0	0	0	1	0	0	0	622	710	25	2	12479	2	ANK3	10	61967865	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2011764	61967865	73566882	385	11082											
H2AFY2	55506	broad.mit.edu	37	10	71868887	71868887	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:71868887A>G	ENST00000373255.4	+	8	1141	c.877A>G	c.(877-879)Acc>Gcc	p.T293A	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	293	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GCTTGAAGAGACCATCAAAAA	0.557																																																0													85	78	80					10																	71868887		2203	4300	6503	SO:0001583	missense	55506			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"Histones / Replication-independent"	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.877A>G	10.37:g.71868887A>G	ENSP00000362352:p.Thr293Ala		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208714	0.58343	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;T	0.17854	2.25;2.25	6.03	6.03	0.97812	Appr-1-p processing (2);	0.048435	0.85682	D	0.000000	T	0.14614	0.0353	N	0.16903	0.455	0.80722	D	1	B	0.30211	0.273	B	0.35182	0.197	T	0.13124	-1.0521	10	0.35671	T	0.21	.	16.2389	0.82396	1.0:0.0:0.0:0.0	.	293	Q9P0M6	H2AW_HUMAN	A	293;227;227	ENSP00000362352:T293A;ENSP00000404584:T227A	ENSP00000362352:T293A	T	+	1	0	H2AFY2	71538893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.412000	0.80091	2.302000	0.77476	0.533000	0.62120	ACC		0.557	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		G	71868887	A	G	71868887	3	3	183	1	0	0	0	0	1	0	0	0	6932	275	10	3	903	3	H2AFY2	10	71868887	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	9901022	71868887	63665860	386	11083											
P4HA1	5033	broad.mit.edu	37	10	74834565	74834565	+	Splice_Site	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:74834565C>G	ENST00000307116.2	-	2	193		c.e2+1		P4HA1_ENST00000412021.2_Splice_Site|P4HA1_ENST00000440381.1_Splice_Site|P4HA1_ENST00000373008.2_Splice_Site|P4HA1_ENST00000394890.2_Splice_Site|P4HA1_ENST00000263556.3_Splice_Site|RP11-344N10.2_ENST00000431293.2_RNA			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I						collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTAAGACTTACCAATTGAAGT	0.299																																					Colon(147;367 2405 2662 52127)											0													60	62	61					10																	74834565		2203	4294	6497	SO:0001630	splice_region_variant	5033				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.76+1G>C	10.37:g.74834565C>G			C9JL12|Q15082|Q15083|Q5VSQ5	Splice_Site	SNP	ENST00000307116.2	37		.	.	.	.	.	.	.	.	.	.	C	23.3	4.401875	0.83120	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0384	0.97572	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	P4HA1	74504571	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.592000	0.67543	2.838000	0.97847	0.655000	0.94253	.		0.299	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917	Intron	G	74834565	C	G	74834565	5	3	183	1	0	0	0	0	0	0	1	0	11358	521	18	4	1658	4	P4HA1	10	74834565	Splice_Site	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2965678	74834565	60700182	387	11084											
DLG5	9231	broad.mit.edu	37	10	79567599	79567599	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:79567599T>C	ENST00000372391.2	-	25	4756	c.4751A>G	c.(4750-4752)gAg>gGg	p.E1584G	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.E1244G	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1584					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTTCGTGAACTCCTCAGGGCG	0.592																																																0													113	92	99					10																	79567599		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4751A>G	10.37:g.79567599T>C	ENSP00000361467:p.Glu1584Gly		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596644	0.86953	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.43294	0.95;0.95;0.95	5.74	5.74	0.90152	PDZ/DHR/GLGF (1);	0.380726	0.19315	N	0.117281	T	0.52917	0.1764	M	0.65975	2.015	0.53005	D	0.999963	P;P	0.45768	0.611;0.866	B;P	0.48598	0.05;0.583	T	0.53436	-0.8439	10	0.48119	T	0.1	.	16.3305	0.83010	0.0:0.0:0.0:1.0	.	1584;1244	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	G	1584;545;1244	ENSP00000361467:E1584G;ENSP00000394797:E545G;ENSP00000361464:E1244G	ENSP00000361464:E1244G	E	-	2	0	DLG5	79237605	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.672000	0.68102	2.317000	0.78254	0.459000	0.35465	GAG		0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			C	79567599	T	C	79567599	3	2	183	1	0	0	0	0	1	0	0	0	4560	1551	54	3	1040	3	DLG5	10	79567599	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	4733034	79567599	55967148	388	11085											
FAM35A	54537	broad.mit.edu	37	10	88911131	88911131	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:88911131T>C	ENST00000298784.1	+	3	134	c.20T>C	c.(19-21)gTc>gCc	p.V7A	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Missense_Mutation_p.V7A	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	7										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GGATCTCAAGTCCACATTTTT	0.338																																					Ovarian(175;703 2004 25460 32514 43441)											0													35	35	35					10																	88911131		2196	4300	6496	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.20T>C	10.37:g.88911131T>C	ENSP00000298784:p.Val7Ala		O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	t	19.75	3.886339	0.72410	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.29917	1.56;1.55;1.55	4.17	4.17	0.49024	.	0.098775	0.34314	N	0.004070	T	0.41259	0.1151	L	0.52573	1.65	0.29341	N	0.866043	D	0.58268	0.982	P	0.55615	0.78	T	0.37103	-0.9720	10	0.72032	D	0.01	-4.6393	12.0026	0.53240	0.0:0.0:0.0:1.0	.	7	Q86V20	FA35A_HUMAN	A	7	ENSP00000298786:V7A;ENSP00000298784:V7A;ENSP00000351064:V7A	ENSP00000298784:V7A	V	+	2	0	FAM35A	88901111	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.971000	0.63749	1.759000	0.51996	0.333000	0.21579	GTC		0.338	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		C	88911131	T	C	88911131	3	2	183	1	0	0	0	0	1	0	0	0	5555	1667	58	3	22	3	FAM35A	10	88911131	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	9343532	88911131	46623616	389	11086											
IFIT1B	439996	broad.mit.edu	37	10	91143311	91143311	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:91143311T>C	ENST00000371809.3	+	2	321	c.241T>C	c.(241-243)Tta>Cta	p.L81L	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	81										endometrium(2)|large_intestine(3)|lung(8)	13						GGCTGAAGACTTAATTCAGAA	0.463																																																0													84	82	83					10																	91143311		2203	4300	6503	SO:0001819	synonymous_variant	439996				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"Tetratricopeptide (TTC) repeat domain containing"	23442	protein-coding gene	gene with protein product			"interferon-induced protein with tetratricopeptide repeats 1-like"	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.241T>C	10.37:g.91143311T>C			A7E245	Silent	SNP	ENST00000371809.3	37	CCDS31242.1																																																																																				0.463	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		C	91143311	T	C	91143311	2	2	183	1	0	0	0	0	0	0	0	1	7524	1606	56	3		3	IFIT1B	10	91143311	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2232180	91143311	44391436	390	11087											
HHEX	3087	broad.mit.edu	37	10	94454326	94454328	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:94454326_94454328delAAG	ENST00000282728.5	+	4	2413_2415	c.614_616delAAG	c.(613-618)aaagaa>aaa	p.E207del	HHEX_ENST00000472590.2_In_Frame_Del_p.E35del|HHEX_ENST00000492654.2_In_Frame_Del_p.E35del	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	207					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AGCAATAAAAAAGAAGAACTGGA	0.389																																																0																																										SO:0001651	inframe_deletion	3087			Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.614_616delAAG	10.37:g.94454329_94454331delAAG	ENSP00000282728:p.Glu207del		B1AQ17|Q96CE9	In_Frame_Del	DEL	ENST00000282728.5	37	CCDS7423.1																																																																																				0.389	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			-	94454328	AAG	-	94454326	7	5	183	1	0	1	0	1	0	0	0	0	7093	14	1	0	628	0	HHEX	10	94454326	In_Frame_Del	DEL	AAG	TCGA-B0-5098-01A-01D-1421-08	3311015	94454326	41080421	391	11088											
EXOC6	54536	broad.mit.edu	37	10	94733826	94733826	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:94733826C>T	ENST00000260762.6	+	18	1804	c.1790C>T	c.(1789-1791)gCa>gTa	p.A597V	EXOC6_ENST00000371547.4_Missense_Mutation_p.A613V|EXOC6_ENST00000443748.2_Missense_Mutation_p.A494V|EXOC6_ENST00000371552.4_Missense_Mutation_p.A592V	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	597					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CGACATGCAGCAGAAGGAGAA	0.338																																																0													65	66	66					10																	94733826		2203	4300	6503	SO:0001583	missense	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1790C>T	10.37:g.94733826C>T	ENSP00000260762:p.Ala597Val		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193240	0.78902	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.63169	1.94	0.80722	D	1	D;D;P;D;P;P	0.71674	0.998;0.967;0.725;0.996;0.688;0.688	P;P;B;D;P;B	0.67900	0.899;0.897;0.393;0.954;0.491;0.393	T	0.66396	-0.5934	10	0.33940	T	0.23	-3.6431	19.1989	0.93701	0.0:1.0:0.0:0.0	.	613;494;589;550;597;592	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	V	613;592;494;597	ENSP00000360602:A613V;ENSP00000360607:A592V;ENSP00000396206:A494V;ENSP00000260762:A597V	ENSP00000260762:A597V	A	+	2	0	EXOC6	94723806	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	7.767000	0.85331	2.504000	0.84457	0.650000	0.86243	GCA		0.338	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		T	94733826	C	T	94733826	3	4	183	1	0	0	0	0	1	0	0	0	5310	710	25	2	1950	2	EXOC6	10	94733826	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	279500	94733826	40800921	392	11089											
NOC3L	64318	broad.mit.edu	37	10	96116290	96116290	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:96116290A>G	ENST00000371361.3	-	5	666		c.e5+1		NOC3L_ENST00000463649.1_Splice_Site|NOC3L_ENST00000371350.1_Splice_Site	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)						fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AAGACATATTACCTTCCTCAA	0.284																																																0													190	198	195					10																	96116290		2202	4300	6502	SO:0001630	splice_region_variant	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.565+1T>C	10.37:g.96116290A>G			Q9H5M6|Q9H9D8	Splice_Site	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430134	0.25726	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7399	0.57246	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOC3L	96106280	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	5.036000	0.64164	2.168000	0.68352	0.528000	0.53228	.		0.284	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	Intron	G	96116290	A	G	96116290	5	3	183	1	0	0	0	0	0	0	1	0	10516	405	14	3	1903	3	NOC3L	10	96116290	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1382464	96116290	39418457	393	11090											
PDLIM1	9124	broad.mit.edu	37	10	96998377	96998377	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:96998377T>A	ENST00000329399.6	-	6	859	c.751A>T	c.(751-753)Att>Ttt	p.I251F	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	251					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCATTTCCAATCGACGCAGCC	0.493																																																0													112	96	101					10																	96998377		2203	4300	6503	SO:0001583	missense	9124			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"carboxyl terminal LIM domain protein 1", "elfin"	605900	"PDZ and LIM domain 1 (elfin)"	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.751A>T	10.37:g.96998377T>A	ENSP00000360305:p.Ile251Phe		B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	37	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001315	0.35320	.	.	ENSG00000107438	ENST00000329399	T	0.22539	1.95	5.24	2.94	0.34122	.	0.277370	0.42053	D	0.000771	T	0.14141	0.0342	M	0.64997	1.995	0.29616	N	0.84656	P	0.39717	0.684	B	0.33042	0.157	T	0.08973	-1.0696	10	0.09590	T	0.72	-10.4165	4.4838	0.11780	0.0:0.1764:0.1681:0.6555	.	251	O00151	PDLI1_HUMAN	F	251	ENSP00000360305:I251F	ENSP00000360305:I251F	I	-	1	0	PDLIM1	96988367	0.161000	0.22892	0.803000	0.32268	0.989000	0.77384	0.585000	0.23879	0.847000	0.35167	0.459000	0.35465	ATT		0.493	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1			A	96998377	T	A	96998377	3	1	183	1	0	0	0	0	1	0	0	0	11681	1435	50	5	246	5	PDLIM1	10	96998377	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	882087	96998377	38536370	394	11091											
FAM178A	55719	broad.mit.edu	37	10	102676519	102676519	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:102676519A>G	ENST00000238961.4	+	3	919	c.377A>G	c.(376-378)cAt>cGt	p.H126R	FAM178A_ENST00000370269.3_Missense_Mutation_p.H126R|FAM178A_ENST00000370271.3_Missense_Mutation_p.H126R	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	126						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CATGAAGATCATGGTATACAT	0.408																																																0													87	80	83					10																	102676519		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.377A>G	10.37:g.102676519A>G	ENSP00000238961:p.His126Arg		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	A	0.027	-1.366227	0.01235	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.39787	1.06;1.69;1.68	5.7	-6.22	0.02058	.	1.100360	0.06850	N	0.797238	T	0.12433	0.0302	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.29397	-1.0013	10	0.02654	T	1	0.777	3.8308	0.08873	0.5338:0.1966:0.1705:0.0991	.	126;126;126	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	R	126	ENSP00000359294:H126R;ENSP00000238961:H126R;ENSP00000359292:H126R	ENSP00000238961:H126R	H	+	2	0	FAM178A	102666509	0.000000	0.05858	0.001000	0.08648	0.115000	0.19883	-0.851000	0.04313	-0.829000	0.04268	-0.242000	0.12053	CAT		0.408	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			G	102676519	A	G	102676519	3	3	183	1	0	0	0	0	1	0	0	0	5505	217	8	3	387	3	FAM178A	10	102676519	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	5678142	102676519	32858228	395	11092											
DPCD	25911	broad.mit.edu	37	10	103360984	103360984	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:103360984A>G	ENST00000370151.4	+	4	344	c.295A>G	c.(295-297)Aag>Gag	p.K99E	MIR3158-1_ENST00000583596.1_RNA|DPCD_ENST00000370148.2_Missense_Mutation_p.K99E|DPCD_ENST00000370147.1_Missense_Mutation_p.K99E	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	99					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						CAAGGACACCAAGATGAGTTT	0.537																																																0													158	122	134					10																	103360984		2203	4300	6503	SO:0001583	missense	25911				CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.295A>G	10.37:g.103360984A>G	ENSP00000359170:p.Lys99Glu		A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Missense_Mutation	SNP	ENST00000370151.4	37	CCDS7514.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187561	0.57909	.	.	ENSG00000166171	ENST00000370151;ENST00000370147;ENST00000370148;ENST00000370149;ENST00000434727	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.95	5.95	0.96441	.	0.102116	0.64402	D	0.000003	T	0.45538	0.1347	M	0.76938	2.355	0.52501	D	0.999952	P	0.50272	0.933	P	0.44811	0.461	T	0.53373	-0.8448	10	0.72032	D	0.01	-9.0198	13.0801	0.59109	0.8576:0.1424:0.0:0.0	.	99	Q9BVM2	DPCD_HUMAN	E	99;99;99;64;63	ENSP00000359170:K99E;ENSP00000359166:K99E;ENSP00000359167:K99E;ENSP00000403505:K63E	ENSP00000359166:K99E	K	+	1	0	DPCD	103350974	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.281000	0.65609	2.276000	0.75962	0.528000	0.53228	AAG		0.537	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049958.2			G	103360984	A	G	103360984	3	3	183	1	0	0	0	0	1	0	0	0	4713	131	5	3	309	3	DPCD	10	103360984	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	684465	103360984	32173763	396	11093											
PDCD11	22984	broad.mit.edu	37	10	105173796	105173796	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:105173796G>C	ENST00000369797.3	+	10	1353	c.1259G>C	c.(1258-1260)aGa>aCa	p.R420T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	420	S1 motif 4. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CACAAGTGTAGAATTATTGAC	0.453																																																0													149	130	137					10																	105173796		2203	4300	6503	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1259G>C	10.37:g.105173796G>C	ENSP00000358812:p.Arg420Thr		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585527	0.86748	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.18502	2.21	5.55	5.55	0.83447	Nucleic acid-binding, OB-fold-like (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.82323	2.585	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.30937	-0.9961	10	0.29301	T	0.29	-14.1806	17.6727	0.88223	0.0:0.0:1.0:0.0	.	420	Q14690	RRP5_HUMAN	T	420	ENSP00000358812:R420T	ENSP00000358812:R420T	R	+	2	0	PDCD11	105163786	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.780000	0.75063	2.624000	0.88883	0.561000	0.74099	AGA		0.453	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			C	105173796	G	C	105173796	3	2	183	1	0	0	0	0	1	0	0	0	11619	942	33	4	1293	4	PDCD11	10	105173796	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1812812	105173796	30360951	397	11094											
ATRNL1	26033	broad.mit.edu	37	10	117093811	117093811	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:117093811T>C	ENST00000355044.3	+	19	3183	c.3057T>C	c.(3055-3057)caT>caC	p.H1019H	ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1019	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTAATGGACATAGCACTTGCA	0.338																																																0													110	97	102					10																	117093811		2203	4300	6503	SO:0001819	synonymous_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3057T>C	10.37:g.117093811T>C			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	CCDS7592.1																																																																																				0.338	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		C	117093811	T	C	117093811	2	2	183	1	0	0	0	0	0	0	0	1	1207	1403	49	3		3	ATRNL1	10	117093811	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	11920015	117093811	18440936	398	11095											
INPP5F	22876	broad.mit.edu	37	10	121571296	121571296	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:121571296A>C	ENST00000361976.2	+	15	1881	c.1715A>C	c.(1714-1716)gAa>gCa	p.E572A		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CCAGTGACAGAAGATCTTTAT	0.323																																																0													84	91	88					10																	121571296		2203	4300	6503	SO:0001583	missense	22876			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1715A>C	10.37:g.121571296A>C	ENSP00000354519:p.Glu572Ala		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039310	0.35989	.	.	ENSG00000198825	ENST00000361976	T	0.41400	1.0	5.58	5.58	0.84498	.	0.273612	0.37809	N	0.001929	T	0.58807	0.2148	L	0.58583	1.82	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.58595	-0.7609	10	0.45353	T	0.12	-27.2018	15.7389	0.77870	1.0:0.0:0.0:0.0	.	572	Q9Y2H2	SAC2_HUMAN	A	572	ENSP00000354519:E572A	ENSP00000354519:E572A	E	+	2	0	INPP5F	121561286	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	9.270000	0.95690	2.129000	0.65627	0.533000	0.62120	GAA		0.323	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		C	121571296	A	C	121571296	3	2	183	1	0	0	0	0	1	0	0	0	7760	246	9	5	1773	5	INPP5F	10	121571296	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	4477485	121571296	13963451	399	11096											
TACC2	10579	broad.mit.edu	37	10	123844471	123844471	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:123844471C>T	ENST00000369005.1	+	4	2796	c.2456C>T	c.(2455-2457)tCc>tTc	p.S819F	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S819F|TACC2_ENST00000334433.3_Missense_Mutation_p.S819F|TACC2_ENST00000453444.2_Missense_Mutation_p.S819F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S819F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	819					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGCTGCATCCGAGTGGCCC	0.582																																																0													96	96	96					10																	123844471		2203	4300	6503	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2456C>T	10.37:g.123844471C>T	ENSP00000358001:p.Ser819Phe		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723329	0.48728	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03920	3.82;3.76;3.76;3.82;3.76	5.21	3.32	0.38043	.	0.286130	0.19180	N	0.120710	T	0.06690	0.0171	L	0.27053	0.805	0.09310	N	1	D;D;P	0.54964	0.969;0.969;0.917	P;P;P	0.51806	0.68;0.548;0.548	T	0.19095	-1.0316	10	0.72032	D	0.01	-2.6474	9.3828	0.38325	0.0:0.8462:0.0:0.1538	.	819;819;819	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	F	819;819;819;819;819;809	ENSP00000358001:S819F;ENSP00000424467:S819F;ENSP00000427618:S819F;ENSP00000334280:S819F;ENSP00000395048:S819F	ENSP00000334280:S819F	S	+	2	0	TACC2	123834461	0.000000	0.05858	0.004000	0.12327	0.010000	0.07245	0.529000	0.23019	2.424000	0.82194	0.561000	0.74099	TCC		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			T	123844471	C	T	123844471	3	4	183	1	0	0	0	0	1	0	0	0	15507	855	30	2	2466	2	TACC2	10	123844471	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2273175	123844471	11690276	400	11097											
C10orf137	26098	broad.mit.edu	37	10	127418872	127418872	+	Silent	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:127418872A>T	ENST00000356792.4	+	9	1264	c.1032A>T	c.(1030-1032)ccA>ccT	p.P344P	C10orf137_ENST00000337623.3_Silent_p.P310P	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACAACAAACCAATTAATGTGC	0.303																																																0													207	197	200					10																	127418872		2203	4300	6503	SO:0001819	synonymous_variant	26098																														ENST00000356792.4:c.1032A>T	10.37:g.127418872A>T			B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	CCDS55733.1																																																																																				0.303	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			T	127418872	A	T	127418872	2	4	183	1	0	0	0	0	0	0	0	1	1596	117	5	5		5	C10orf137	10	127418872	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3574401	127418872	8115875	401	11098	85	2									
C10orf137	26098	broad.mit.edu	37	10	127418877	127418877	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:127418877A>T	ENST00000356792.4	+	9	1269	c.1037A>T	c.(1036-1038)aAt>aTt	p.N346I	C10orf137_ENST00000337623.3_Missense_Mutation_p.N312I	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAACCAATTAATGTGCTAACT	0.308																																																0													223	210	214					10																	127418877		2203	4300	6503	SO:0001583	missense	26098																														ENST00000356792.4:c.1037A>T	10.37:g.127418877A>T	ENSP00000349244:p.Asn346Ile		B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669632	0.88348	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.12569	2.67;2.67	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	T	0.39078	-0.9631	10	0.87932	D	0	.	15.9989	0.80275	1.0:0.0:0.0:0.0	.	346;312;346	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	I	346;346;312	ENSP00000349244:N346I;ENSP00000336727:N312I	ENSP00000336727:N312I	N	+	2	0	C10orf137	127408867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.179000	0.69175	0.482000	0.46254	AAT		0.308	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			T	127418877	A	T	127418877	3	4	183	1	0	0	0	0	1	0	0	0	1596	101	4	5	965	5	C10orf137	10	127418877	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	5	127418877	8115870	402	11099	85	2									
DHX32	55760	broad.mit.edu	37	10	127548334	127548336	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:127548334_127548336delATA	ENST00000284690.3	-	3	1175_1177	c.685_687delTAT	c.(685-687)tatdel	p.Y229del	DHX32_ENST00000284688.6_In_Frame_Del_p.Y229del	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	229	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCACGTTTCCATAATAAGAATTG	0.384																																																0																																										SO:0001651	inframe_deletion	55760				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.685_687delTAT	10.37:g.127548337_127548339delATA	ENSP00000284690:p.Tyr229del		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	In_Frame_Del	DEL	ENST00000284690.3	37	CCDS7652.1																																																																																				0.384	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		-	127548336	ATA	-	127548334	7	5	183	1	0	1	0	1	0	0	0	0	4507	224	8	0	1580	0	DHX32	10	127548334	In_Frame_Del	DEL	ATA	TCGA-B0-5098-01A-01D-1421-08	129457	127548334	7986413	403	11100											
LRRC27	80313	broad.mit.edu	37	10	134161565	134161565	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:134161565A>G	ENST00000368614.3	+	6	736	c.631A>G	c.(631-633)Aac>Gac	p.N211D	LRRC27_ENST00000432555.2_Missense_Mutation_p.N84D|LRRC27_ENST00000392638.2_Missense_Mutation_p.N211D|LRRC27_ENST00000368615.3_Missense_Mutation_p.N211D|LRRC27_ENST00000368612.1_Missense_Mutation_p.N149D|LRRC27_ENST00000368613.4_Missense_Mutation_p.N211D|LRRC27_ENST00000344079.5_Missense_Mutation_p.N211D|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000368610.3_Missense_Mutation_p.N149D	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	211										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CCACGCGTCTAACCAAGGAGC	0.572																																																0													77	80	79					10																	134161565		2203	4300	6503	SO:0001583	missense	80313			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.631A>G	10.37:g.134161565A>G	ENSP00000357603:p.Asn211Asp		A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539889	0.45176	.	.	ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T;T;T;T;T;T;T;T	0.42900	2.69;2.6;2.6;2.59;2.59;4.35;4.35;0.96	3.75	1.31	0.21738	.	1.168500	0.06312	N	0.702974	T	0.26231	0.0640	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.21381	0.005;0.002;0.012;0.006;0.055	B;B;B;B;B	0.20577	0.011;0.005;0.011;0.003;0.03	T	0.24621	-1.0155	10	0.33940	T	0.23	-5.1241	5.3775	0.16174	0.7222:0.0:0.2778:0.0	.	211;84;149;211;211	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.;.;.;LRC27_HUMAN;.	D	211;211;211;211;211;149;149;84	ENSP00000357604:N211D;ENSP00000376413:N211D;ENSP00000342641:N211D;ENSP00000357603:N211D;ENSP00000357602:N211D;ENSP00000357601:N149D;ENSP00000357599:N149D;ENSP00000407949:N84D	ENSP00000342641:N211D	N	+	1	0	LRRC27	134011555	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.052000	0.14163	0.136000	0.18733	0.533000	0.62120	AAC		0.572	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		G	134161565	A	G	134161565	3	3	183	1	0	0	0	0	1	0	0	0	8983	362	13	3	649	3	LRRC27	10	134161565	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	6613231	134161565	1373182	404	11101											
KNDC1	85442	broad.mit.edu	37	10	135013087	135013087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr10:135013087C>T	ENST00000304613.3	+	15	2905	c.2884C>T	c.(2884-2886)Cag>Tag	p.Q962*	KNDC1_ENST00000368571.2_Nonsense_Mutation_p.Q897*|KNDC1_ENST00000368572.2_Nonsense_Mutation_p.Q964*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	962					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGTCAACGGGCAGGCGTCACC	0.612																																																0													114	106	109					10																	135013087		2202	4300	6502	SO:0001587	stop_gained	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2884C>T	10.37:g.135013087C>T	ENSP00000304437:p.Gln962*		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Nonsense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	38	6.765347	0.97821	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	.	.	.	3.99	0.235	0.15431	.	1.839510	0.03162	N	0.169452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-7.5302	12.2481	0.54583	0.3474:0.6526:0.0:0.0	.	.	.	.	X	962;964;897	.	ENSP00000304437:Q962X	Q	+	1	0	KNDC1	134863077	0.253000	0.23982	0.003000	0.11579	0.068000	0.16541	0.080000	0.14802	0.162000	0.19483	0.313000	0.20887	CAG		0.612	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		T	135013087	C	T	135013087	4	4	183	1	0	0	0	0	0	1	0	0	8428	711	25	2	2942	2	KNDC1	10	135013087	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	851522	135013087	521660	405	11102											
BET1L	60626	broad.mit.edu	37	11	205968	205968	+	5'Flank	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:205968A>G	ENST00000526104.1	+	0	0				BET1L_ENST00000382762.3_Missense_Mutation_p.V32A|BET1L_ENST00000486280.1_Missense_Mutation_p.V9A|BET1L_ENST00000529614.2_Missense_Mutation_p.V32A|BET1L_ENST00000410108.1_Missense_Mutation_p.V32A|RP11-304M2.5_ENST00000526963.1_RNA|BET1L_ENST00000332865.6_Missense_Mutation_p.V32A|BET1L_ENST00000325147.9_Missense_Mutation_p.V32A|RIC8A_ENST00000325207.5_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCCTGGTGACTTTGGAGGC	0.587																																																0													100	91	94					11																	205968		2203	4300	6503	SO:0001631	upstream_gene_variant	51272			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069		11.37:g.205968A>G	Exception_encountered		Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37		.	.	.	.	.	.	.	.	.	.	A	24.3	4.518427	0.85495	.	.	ENSG00000177951	ENST00000410108;ENST00000325147;ENST00000382762;ENST00000332865;ENST00000529614;ENST00000486280	.	.	.	4.17	4.17	0.49024	Target SNARE coiled-coil domain (2);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.945;0.997	D	0.83753	0.0210	9	0.87932	D	0	.	13.4186	0.60982	1.0:0.0:0.0:0.0	.	32;32	Q9NYM9;B8ZZS0	BET1L_HUMAN;.	A	32;32;32;32;32;9	.	ENSP00000339093:V32A	V	-	2	0	BET1L	195968	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.478000	0.90428	2.117000	0.64856	0.454000	0.30748	GTC		0.587	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		G	205968	A	G	205968	1	3	183	0	1	0	0	0	0	0	0	0	1409	275	10	3		3	BET1L	11	205968	5'Flank	SNP	A	TCGA-B0-5098-01A-01D-1421-08		205968	134800548	406	11103											
MUC6	4588	broad.mit.edu	37	11	1028224	1028224	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:1028224A>G	ENST00000421673.2	-	14	1804		c.e14+1			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGGACACTCACTGTTGAGCT	0.697																																																0													15	18	17					11																	1028224		1863	4079	5942	SO:0001630	splice_region_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1753+1T>C	11.37:g.1028224A>G			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Splice_Site	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130842	0.77549	.	.	ENSG00000184956	ENST00000421673	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1438	0.65336	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC6	1018224	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	5.911000	0.69939	1.833000	0.53350	0.402000	0.26972	.		0.697	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	Intron	G	1028224	A	G	1028224	5	3	183	1	0	0	0	0	0	0	1	0	9982	173	6	3	5644	3	MUC6	11	1028224	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	822256	1028224	133978292	407	11104											
KCNQ1	3784	broad.mit.edu	37	11	2609949	2609949	+	Frame_Shift_Del	DEL	A	A	-	rs397508083		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:2609949delA	ENST00000155840.5	+	10	1366	c.1258delA	c.(1258-1260)aaafs	p.K422fs	KCNQ1_ENST00000335475.5_Frame_Shift_Del_p.K295fs	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	422					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTAGGTAAAGAAAAAAAAGTT	0.562																																																0													49	52	51					11																	2609949		2202	4299	6501	SO:0001589	frameshift_variant	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1258delA	11.37:g.2609949delA	ENSP00000155840:p.Lys422fs		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Frame_Shift_Del	DEL	ENST00000155840.5	37	CCDS7736.1																																																																																				0.562	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		-	2609949	A	-	2609949	7	5	183	1	0	1	0	1	0	0	0	0	8084	247	9	0	1305	0	KCNQ1	11	2609949	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	1581725	2609949	132396567	408	11105											
OR51Q1	390061	broad.mit.edu	37	11	5444095	5444095	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:5444095T>C	ENST00000300778.4	+	1	755	c.665T>C	c.(664-666)cTt>cCt	p.L222P	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTATACACTTATTCTGAAA	0.488																																																0													143	124	131					11																	5444095		2201	4297	6498	SO:0001583	missense	390061			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.665T>C	11.37:g.5444095T>C	ENSP00000300778:p.Leu222Pro		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600650	0.28534	.	.	ENSG00000167360	ENST00000300778	T	0.00183	8.6	5.0	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.724401	0.11840	N	0.524420	T	0.00637	0.0021	M	0.93062	3.375	0.20196	N	0.99992	D	0.56746	0.977	P	0.61003	0.882	T	0.33650	-0.9860	10	0.72032	D	0.01	.	10.9752	0.47461	0.0:0.0:0.299:0.701	.	222	Q8NH59	O51Q1_HUMAN	P	222	ENSP00000300778:L222P	ENSP00000300778:L222P	L	+	2	0	OR51Q1	5400671	0.003000	0.15002	0.000000	0.03702	0.456000	0.32438	1.395000	0.34520	0.370000	0.24538	0.311000	0.20440	CTT		0.488	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		C	5444095	T	C	5444095	3	2	183	1	0	0	0	0	1	0	0	0	11106	1609	56	3	667	3	OR51Q1	11	5444095	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2834146	5444095	129562421	409	11106											
UBQLN3	50613	broad.mit.edu	37	11	5529517	5529517	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:5529517A>G	ENST00000311659.4	-	2	1419	c.1272T>C	c.(1270-1272)ggT>ggC	p.G424G	HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	424										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGGTCTCCACCTTGTCCAG	0.547																																					Ovarian(72;684 1260 12332 41642 52180)											0													113	114	113					11																	5529517		2201	4297	6498	SO:0001819	synonymous_variant	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1272T>C	11.37:g.5529517A>G			Q9NRE0	Silent	SNP	ENST00000311659.4	37	CCDS7758.1																																																																																				0.547	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		G	5529517	A	G	5529517	2	3	183	1	0	0	0	0	0	0	0	1	16903	146	6	3		3	UBQLN3	11	5529517	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	85422	5529517	129476999	410	11107											
APBB1	322	broad.mit.edu	37	11	6431909	6431909	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:6431909G>A	ENST00000609360.1	-	2	768	c.669C>T	c.(667-669)agC>agT	p.S223S	APBB1_ENST00000311051.3_Silent_p.S223S|APBB1_ENST00000389906.2_Silent_p.S223S|APBB1_ENST00000299402.6_Silent_p.S223S	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	223					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGTAGCCCAGCTTGAGTCCT	0.612																																					GBM(147;1810 2556 5672 39622)											0													59	59	59					11																	6431909		2201	4296	6497	SO:0001819	synonymous_variant	322			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.669C>T	11.37:g.6431909G>A			A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37																																																																																					0.612	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		A	6431909	G	A	6431909	2	1	183	1	0	0	0	0	0	0	0	1	759	962	34	2		2	APBB1	11	6431909	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	902392	6431909	128574607	411	11108											
DCHS1	8642	broad.mit.edu	37	11	6646021	6646021	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:6646021C>A	ENST00000299441.3	-	20	7636	c.7225G>T	c.(7225-7227)Ggt>Tgt	p.G2409C	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2409	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATGTGACCGTTGGCACCT	0.562																																																0													122	87	99					11																	6646021		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7225G>T	11.37:g.6646021C>A	ENSP00000299441:p.Gly2409Cys		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298486	0.81025	.	.	ENSG00000166341	ENST00000299441	T	0.54675	0.56	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	D	0.000333	T	0.80374	0.4611	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84972	0.0883	10	0.87932	D	0	.	17.9533	0.89061	0.0:1.0:0.0:0.0	.	2409	Q96JQ0	PCD16_HUMAN	C	2409	ENSP00000299441:G2409C	ENSP00000299441:G2409C	G	-	1	0	DCHS1	6602597	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.931000	0.75863	2.826000	0.97356	0.561000	0.74099	GGT		0.562	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		A	6646021	C	A	6646021	3	1	183	1	0	0	0	0	1	0	0	0	4289	652	23	4	2679	4	DCHS1	11	6646021	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	214112	6646021	128360495	412	11109											
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-	rs188153920	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:6662142delG	ENST00000299441.3	-	2	1114	c.703delC	c.(703-705)cggfs	p.R236fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587																																																0													100	101	101					11																	6662142		2201	4296	6497	SO:0001589	frameshift_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.703delC	11.37:g.6662142delG	ENSP00000299441:p.Arg236fs		O15098	Frame_Shift_Del	DEL	ENST00000299441.3	37	CCDS7771.1																																																																																				0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		-	6662142	G	-	6662142	7	5	183	1	0	1	0	1	0	0	0	0	4289	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	16121	6662142	128344374	413	11110											
C11orf17	56672	broad.mit.edu	37	11	8936454	8936454	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:8936454delT	ENST00000309377.4	+	4	475	c.385delT	c.(385-387)tgcfs	p.C129fs	AKIP1_ENST00000534506.1_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000534147.1_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000309357.4_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000396648.2_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000525005.1_Frame_Shift_Del_p.C129fs|AKIP1_ENST00000299576.5_Frame_Shift_Del_p.C102fs|AKIP1_ENST00000529876.1_Frame_Shift_Del_p.C102fs	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	129					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(2)	5						GCTGCACATGTGCTTGGACAT	0.468											OREG0020740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													186	155	166					11																	8936454		2201	4296	6497	SO:0001589	frameshift_variant	56672			AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"chromosome 11 open reading frame 17"	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.385delT	11.37:g.8936454delT	ENSP00000310459:p.Cys129fs	653	Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Frame_Shift_Del	DEL	ENST00000309377.4	37	CCDS7793.1																																																																																				0.468	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385615.1	NM_020642		-	8936454	T	-	8936454	7	5	183	1	0	1	0	1	0	0	0	0	1634	1696	59	0	395	0	C11orf17	11	8936454	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	2274312	8936454	126070062	414	11111											
NELL1	4745	broad.mit.edu	37	11	20691274	20691274	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:20691274C>A	ENST00000357134.5	+	1	157	c.5C>A	c.(4-6)cCg>cAg	p.P2Q	NELL1_ENST00000532434.1_Missense_Mutation_p.P2Q|RP11-701I24.3_ENST00000528795.1_RNA|NELL1_ENST00000298925.5_Missense_Mutation_p.P2Q|NELL1_ENST00000325319.5_Missense_Mutation_p.P2Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	2					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAGCGATGCCGATGGATTTG	0.597																																																0													151	131	138					11																	20691274		2203	4300	6503	SO:0001583	missense	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.5C>A	11.37:g.20691274C>A	ENSP00000349654:p.Pro2Gln		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689210	0.48097	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;T;T;T	0.89050	-2.46;-1.23;-1.28;-1.14	3.68	-0.412	0.12367	.	0.087891	0.44688	D	0.000432	D	0.88808	0.6537	L	0.46157	1.445	0.20926	N	0.999824	D;D;B;D	0.71674	0.998;0.996;0.136;0.996	P;P;B;P	0.62184	0.899;0.854;0.028;0.795	T	0.80968	-0.1145	10	0.87932	D	0	-0.352	6.9013	0.24285	0.0:0.5907:0.0:0.4093	.	2;2;2;2	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	2	ENSP00000298925:P2Q;ENSP00000349654:P2Q;ENSP00000317837:P2Q;ENSP00000437170:P2Q	ENSP00000298925:P2Q	P	+	2	0	NELL1	20647850	0.278000	0.24230	0.022000	0.16811	0.704000	0.40688	-0.094000	0.11094	-0.193000	0.10415	0.563000	0.77884	CCG		0.597	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		A	20691274	C	A	20691274	3	1	183	1	0	0	0	0	1	0	0	0	10335	652	23	4	7	4	NELL1	11	20691274	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	11754820	20691274	114315242	415	11112											
LUZP2	338645	broad.mit.edu	37	11	24518815	24518815	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:24518815T>C	ENST00000336930.6	+	1	92	c.26T>C	c.(25-27)cTg>cCg	p.L9P	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	9						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCGCACTACCTGCTGCCTCTC	0.652																																																0													29	29	29					11																	24518815		2203	4300	6503	SO:0001583	missense	338645			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.26T>C	11.37:g.24518815T>C	ENSP00000336817:p.Leu9Pro		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306092	0.60305	.	.	ENSG00000187398	ENST00000336930;ENST00000529015	T	0.53206	0.63	5.0	3.85	0.44370	.	0.719515	0.12512	N	0.462402	T	0.56790	0.2009	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52396	-0.8581	10	0.87932	D	0	-4.9037	8.407	0.32621	0.1738:0.0:0.0:0.8262	.	9	Q86TE4	LUZP2_HUMAN	P	9	ENSP00000336817:L9P	ENSP00000336817:L9P	L	+	2	0	LUZP2	24475391	1.000000	0.71417	0.971000	0.41717	0.912000	0.54170	2.680000	0.46918	0.823000	0.34589	0.533000	0.62120	CTG		0.652	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		C	24518815	T	C	24518815	3	2	183	1	0	0	0	0	1	0	0	0	9089	1580	55	3	28	3	LUZP2	11	24518815	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	3827541	24518815	110487701	416	11113											
KIF18A	81930	broad.mit.edu	37	11	28116199	28116199	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:28116199T>C	ENST00000263181.6	-	3	764	c.474A>G	c.(472-474)tcA>tcG	p.S158S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	158	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCTCCAGATATGAAACTGCAG	0.323																																																0													137	131	133					11																	28116199		2202	4299	6501	SO:0001819	synonymous_variant	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.474A>G	11.37:g.28116199T>C			Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	CCDS7867.1																																																																																				0.323	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		C	28116199	T	C	28116199	2	2	183	1	0	0	0	0	0	0	0	1	8282	1451	51	3		3	KIF18A	11	28116199	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	3597384	28116199	106890317	417	11114											
QSER1	79832	broad.mit.edu	37	11	32953741	32953741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:32953741C>T	ENST00000399302.2	+	4	885	c.550C>T	c.(550-552)Cga>Tga	p.R184*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.R184*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	184	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGCTCTTCTTCGAGAATGTAG	0.453																																																0													114	105	108					11																	32953741		1888	4112	6000	SO:0001587	stop_gained	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.550C>T	11.37:g.32953741C>T	ENSP00000382241:p.Arg184*		Q6ZU30|Q6ZUR5	Nonsense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	37	6.453755	0.97581	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	.	.	.	5.18	5.18	0.71444	.	0.000000	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000078652:R184X	R	+	1	2	QSER1	32910317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.916000	0.48813	2.579000	0.87056	0.655000	0.94253	CGA		0.453	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		T	32953741	C	T	32953741	4	4	183	1	0	0	0	0	0	1	0	0	12888	876	31	1	556	1	QSER1	11	32953741	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	4837542	32953741	102052775	418	11115											
QSER1	79832	broad.mit.edu	37	11	32975569	32975569	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:32975569A>C	ENST00000399302.2	+	5	4292	c.3957A>C	c.(3955-3957)gaA>gaC	p.E1319D	QSER1_ENST00000527788.1_Missense_Mutation_p.E1080D	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1319										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGCCCATTGAACTTGATGGTC	0.448																																																0													89	84	86					11																	32975569		1899	4108	6007	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3957A>C	11.37:g.32975569A>C	ENSP00000382241:p.Glu1319Asp		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.743|9.743	1.165510|1.165510	0.21538|0.21538	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.23348|.	2.24;1.91|.	5.92|5.92	-0.316|-0.316	0.12743|0.12743	.|.	0.559871|.	0.16774|.	N|.	0.200066|.	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	B;B;B|.	0.24483|.	0.002;0.053;0.104|.	B;B;B|.	0.19148|.	0.004;0.022;0.024|.	T|T	0.33163|0.33163	-0.9879|-0.9879	10|5	0.56958|.	D|.	0.05|.	.|.	2.6205|2.6205	0.04915|0.04915	0.5001:0.1195:0.2745:0.106|0.5001:0.1195:0.2745:0.106	.|.	1080;1080;1319|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	D|T	1319;1080;1080|340	ENSP00000382241:E1319D;ENSP00000432766:E1080D|.	ENSP00000078652:E1080D|.	E|N	+|+	3|2	2|0	QSER1|QSER1	32932145|32932145	0.003000|0.003000	0.15002|0.15002	0.322000|0.322000	0.25334|0.25334	0.746000|0.746000	0.42486|0.42486	-0.144000|-0.144000	0.10280|0.10280	0.165000|0.165000	0.19558|0.19558	0.477000|0.477000	0.44152|0.44152	GAA|AAC		0.448	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		C	32975569	A	C	32975569	3	2	183	1	0	0	0	0	1	0	0	0	12888	40	2	5	3967	5	QSER1	11	32975569	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	21828	32975569	102030947	419	11116											
C11orf41	25758	broad.mit.edu	37	11	33564206	33564206	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:33564206A>G	ENST00000321505.4	+	1	386	c.206A>G	c.(205-207)cAg>cGg	p.Q69R	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.Q69R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.Q69R			Q6ZVL6	K154L_HUMAN	KIAA1549-like	69						integral component of membrane (GO:0016021)											AGTCTTCTTCAGCTTCCAGAT	0.562																																																0													67	68	68					11																	33564206		1918	4106	6024	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.206A>G	11.37:g.33564206A>G	ENSP00000315295:p.Gln69Arg		B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.482619	0.00163	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	4.45	-4.19	0.03835	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33085	-0.9882	8	0.09338	T	0.73	.	6.3707	0.21479	0.2371:0.1157:0.6472:0.0	.	69;69	E9PAT2;Q6ZVL6-2	.;.	R	69	.	ENSP00000265654:Q69R	Q	+	2	0	C11orf41	33520782	0.031000	0.19500	0.004000	0.12327	0.002000	0.02628	0.013000	0.13310	-1.300000	0.02341	-1.145000	0.01858	CAG		0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		G	33564206	A	G	33564206	3	3	183	1	0	0	0	0	1	0	0	0	1642	188	7	3	208	3	C11orf41	11	33564206	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	588637	33564206	101442310	420	11117											
FBXO3	26273	broad.mit.edu	37	11	33792303	33792304	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:33792303_33792304insT	ENST00000265651.3	-	2	195_196	c.177_178insA	c.(175-180)aaatacfs	p.Y60fs	FBXO3_ENST00000448981.2_Frame_Shift_Ins_p.Y60fs|FBXO3_ENST00000534136.1_Frame_Shift_Ins_p.Y60fs|FBXO3_ENST00000530401.1_Frame_Shift_Ins_p.Y55fs|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000533103.1_5'UTR	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	60					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ATCAGCCAGTATTTTTTGCAAT	0.426																																																0																																										SO:0001589	frameshift_variant	26273			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.178dupA	11.37:g.33792309_33792309dupT	ENSP00000265651:p.Tyr60fs		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Frame_Shift_Ins	INS	ENST00000265651.3	37	CCDS7887.1																																																																																				0.426	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		T	33792304	-	T	33792303	7	5	183	1	0	1	1	0	0	0	0	0	5741	449	16	0	1286	0	FBXO3	11	33792303	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	228097	33792303	101214213	421	11118											
ALX4	60529	broad.mit.edu	37	11	44297022	44297022	+	Missense_Mutation	SNP	C	C	T	rs104894193		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:44297022C>T	ENST00000329255.3	-	2	756	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	218			R -> Q (in PFM2). {ECO:0000269|PubMed:11137991}.		anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R218Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GAAGGTGGTCCGGTTCCGCCG	0.632																																																1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM010011	ALX4	M	rs104894193						147	155	152					11																	44297022		2203	4299	6502	SO:0001583	missense	60529			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.653G>A	11.37:g.44297022C>T	ENSP00000332744:p.Arg218Gln		Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099847	0.76983	.	.	ENSG00000052850	ENST00000329255	D	0.99150	-5.49	3.62	3.62	0.41486	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.204036	0.40908	N	0.000991	D	0.99600	0.9855	H	0.99286	4.5	0.80722	A	1	D	0.76494	0.999	D	0.70935	0.971	D	0.97329	0.9949	9	0.87932	D	0	.	15.4743	0.75465	0.0:1.0:0.0:0.0	.	218	Q9H161	ALX4_HUMAN	Q	218	ENSP00000332744:R218Q	ENSP00000332744:R218Q	R	-	2	0	ALX4	44253598	1.000000	0.71417	0.928000	0.36995	0.905000	0.53344	7.620000	0.83070	1.856000	0.53863	0.455000	0.32223	CGG		0.632	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			T	44297022	C	T	44297022	3	4	183	1	0	0	0	0	1	0	0	0	558	652	23	1	594	1	ALX4	11	44297022	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	10504719	44297022	90709494	422	11119											
ZNF408	79797	broad.mit.edu	37	11	46726767	46726767	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:46726767G>A	ENST00000311764.2	+	5	1747	c.1517G>A	c.(1516-1518)cGt>cAt	p.R506H		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGGGCGTTTCGTCAGCGGGGC	0.657																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)											0													58	57	57					11																	46726767		2199	4297	6496	SO:0001583	missense	79797			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1517G>A	11.37:g.46726767G>A	ENSP00000309606:p.Arg506His			Missense_Mutation	SNP	ENST00000311764.2	37	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007275	0.75046	.	.	ENSG00000175213	ENST00000311764	T	0.18016	2.24	5.54	4.61	0.57282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000356	T	0.27205	0.0667	N	0.25890	0.77	0.44048	D	0.996781	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.03641	-1.1017	10	0.19590	T	0.45	-28.8253	15.4627	0.75373	0.0:0.0:0.86:0.14	.	498;506	B4DXY4;Q9H9D4	.;ZN408_HUMAN	H	506	ENSP00000309606:R506H	ENSP00000309606:R506H	R	+	2	0	ZNF408	46683343	0.979000	0.34478	1.000000	0.80357	0.761000	0.43186	4.271000	0.58902	1.414000	0.47017	0.462000	0.41574	CGT		0.657	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		A	46726767	G	A	46726767	3	1	183	1	0	0	0	0	1	0	0	0	17893	1145	40	1	1567	1	ZNF408	11	46726767	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2429745	46726767	88279749	423	11120											
MADD	8567	broad.mit.edu	37	11	47305943	47305943	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:47305943C>G	ENST00000311027.5	+	12	2149	c.1984C>G	c.(1984-1986)Cat>Gat	p.H662D	MADD_ENST00000395336.3_Missense_Mutation_p.H662D|MADD_ENST00000395344.3_Missense_Mutation_p.H662D|MADD_ENST00000402799.1_Missense_Mutation_p.H662D|MADD_ENST00000406482.1_Missense_Mutation_p.H662D|MADD_ENST00000342922.4_Missense_Mutation_p.H662D|MADD_ENST00000402192.2_Missense_Mutation_p.H662D|MADD_ENST00000407859.3_Missense_Mutation_p.H662D|MADD_ENST00000349238.3_Missense_Mutation_p.H662D	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCCTCTGACACATGCAGCACT	0.582																																																0													79	82	81					11																	47305943		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1984C>G	11.37:g.47305943C>G	ENSP00000310933:p.His662Asp			Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571025	0.86542	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.05717	3.45;3.44;3.44;3.46;3.47;3.4;3.44;3.47;3.45	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.65815	0.99;0.99;0.995;0.994;0.994;0.994;0.995;0.994;0.991;0.99	P;D;D;P;P;D;D;D;D;D	0.83275	0.843;0.972;0.991;0.854;0.896;0.988;0.996;0.919;0.979;0.991	T	0.00020	-1.2351	10	0.66056	D	0.02	-17.3981	20.8794	0.99867	0.0:1.0:0.0:0.0	.	662;662;662;662;662;662;662;662;662;662	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	D	662	ENSP00000343902:H662D;ENSP00000385585:H662D;ENSP00000384435:H662D;ENSP00000304505:H662D;ENSP00000310933:H662D;ENSP00000384204:H662D;ENSP00000378753:H662D;ENSP00000378745:H662D;ENSP00000384287:H662D	ENSP00000310933:H662D	H	+	1	0	MADD	47262519	1.000000	0.71417	0.177000	0.23020	0.973000	0.67179	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	CAT		0.582	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			G	47305943	C	G	47305943	3	3	183	1	0	0	0	0	1	0	0	0	9154	478	17	4	2026	4	MADD	11	47305943	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	579176	47305943	87700573	424	11121											
TRIM48	79097	broad.mit.edu	37	11	55032522	55032522	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:55032522T>C	ENST00000417545.2	+	2	277	c.191T>C	c.(190-192)aTt>aCt	p.I64T		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	48						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GACATCCCAATTCTTACTCAG	0.458																																																0													113	110	111					11																	55032522		2186	4259	6445	SO:0001583	missense	79097			AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.191T>C	11.37:g.55032522T>C	ENSP00000402414:p.Ile64Thr		Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.255180	0.00021	.	.	ENSG00000150244	ENST00000417545	D	0.83673	-1.75	0.596	-1.19	0.09585	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.	.	.	.	T	0.60637	0.2284	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.20184	0.028	T	0.40496	-0.9560	9	0.21540	T	0.41	.	3.5541	0.07858	0.0:0.2498:0.4953:0.2549	.	48	Q8IWZ4	TRI48_HUMAN	T	64	ENSP00000402414:I64T	ENSP00000402414:I64T	I	+	2	0	TRIM48	54789098	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.870000	0.04228	-1.243000	0.02519	-0.948000	0.02665	ATT		0.458	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			C	55032522	T	C	55032522	3	2	183	1	0	0	0	0	1	0	0	0	16528	1493	52	3	197	3	TRIM48	11	55032522	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	7726579	55032522	79973994	425	11122											
OR4S2	219431	broad.mit.edu	37	11	55418395	55418395	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:55418395A>G	ENST00000312422.2	+	1	16	c.16A>G	c.(16-18)Aac>Gac	p.N6D		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAAAATAAACAACGTAACTGA	0.323																																																0													52	47	49					11																	55418395		2176	4002	6178	SO:0001583	missense	219431			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.16A>G	11.37:g.55418395A>G	ENSP00000310337:p.Asn6Asp		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.573379	0.45902	.	.	ENSG00000174982	ENST00000312422	T	0.19669	2.13	5.15	3.94	0.45596	.	0.000000	0.56097	D	0.000038	T	0.21881	0.0527	L	0.38692	1.165	0.21652	N	0.999603	P	0.52842	0.956	P	0.51229	0.663	T	0.06427	-1.0827	10	0.72032	D	0.01	.	6.3349	0.21291	0.6809:0.1625:0.0:0.1566	.	6	Q8NH73	OR4S2_HUMAN	D	6	ENSP00000310337:N6D	ENSP00000310337:N6D	N	+	1	0	OR4S2	55174971	0.000000	0.05858	0.929000	0.37066	0.434000	0.31775	0.525000	0.22956	1.936000	0.56123	0.368000	0.22195	AAC		0.323	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		G	55418395	A	G	55418395	3	3	183	1	0	0	0	0	1	0	0	0	11085	130	5	3	18	3	OR4S2	11	55418395	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	385873	55418395	79588121	426	11123											
BSCL2	26580	broad.mit.edu	37	11	62462149	62462149	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:62462149A>G	ENST00000403550.1	-	4	752	c.329T>C	c.(328-330)tTa>tCa	p.L110S	HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_Missense_Mutation_p.L110S|BSCL2_ENST00000360796.5_Missense_Mutation_p.L174S|BSCL2_ENST00000433053.1_Missense_Mutation_p.L174S|BSCL2_ENST00000405837.1_Missense_Mutation_p.L174S|BSCL2_ENST00000407022.3_Missense_Mutation_p.L110S|BSCL2_ENST00000421906.1_Missense_Mutation_p.L110S|BSCL2_ENST00000537604.1_5'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	110					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTCAAGCTCTAAGGTAACACG	0.448											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													129	100	110					11																	62462149		2202	4299	6501	SO:0001583	missense	26580				CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"spastic paraplegia 17 (Silver syndrome)"	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.329T>C	11.37:g.62462149A>G	ENSP00000385561:p.Leu110Ser	1061	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974213	0.74246	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000531524;ENST00000524862	D;D;D;D;D;D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92	5.42	4.22	0.49857	.	0.220523	0.29314	U	0.012518	D	0.95487	0.8534	M	0.86028	2.79	0.43417	D	0.995564	D;D;D;D	0.69078	0.997;0.986;0.973;0.992	D;D;P;D	0.68483	0.954;0.958;0.89;0.958	D	0.95554	0.8623	10	0.87932	D	0	-5.1064	10.2307	0.43253	0.8335:0.1665:0.0:0.0	.	110;110;174;110	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	S	174;174;110;174;110;110;110;110;41;174	ENSP00000385332:L174S;ENSP00000414002:L174S;ENSP00000278893:L110S;ENSP00000354032:L174S;ENSP00000385561:L110S;ENSP00000384080:L110S;ENSP00000413209:L110S;ENSP00000413340:L110S;ENSP00000436026:L41S;ENSP00000433888:L174S	ENSP00000278893:L110S	L	-	2	0	BSCL2	62218725	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	6.084000	0.71335	2.052000	0.61016	0.460000	0.39030	TTA		0.448	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		G	62462149	A	G	62462149	3	3	183	1	0	0	0	0	1	0	0	0	1529	372	13	3	899	3	BSCL2	11	62462149	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	7043754	62462149	72544367	427	11124											
HNRNPUL2	221092	broad.mit.edu	37	11	62484649	62484650	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:62484649_62484650delAA	ENST00000301785.5	-	11	1984_1985	c.1792_1793delTT	c.(1792-1794)ttgfs	p.L598fs	HNRNPUL2-BSCL2_ENST00000403734.2_Frame_Shift_Del_p.L598fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	598						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTTTTCAGGCAAAGAGAAGTTG	0.441																																																0																																										SO:0001589	frameshift_variant	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1792_1793delTT	11.37:g.62484649_62484650delAA	ENSP00000301785:p.Leu598fs		Q8N3B3	Frame_Shift_Del	DEL	ENST00000301785.5	37	CCDS41659.1																																																																																				0.441	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		-	62484650	AA	-	62484649	7	5	183	1	0	1	0	1	0	0	0	0	7277	131	5	0	466	0	HNRNPUL2	11	62484649	Frame_Shift_Del	DEL	AA	TCGA-B0-5098-01A-01D-1421-08	22500	62484649	72521867	428	11125											
HNRNPUL2	221092	broad.mit.edu	37	11	62489666	62489666	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:62489666A>G	ENST00000301785.5	-	7	1474	c.1282T>C	c.(1282-1284)Ttt>Ctt	p.F428L	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.F428L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	428						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATGAACACAAACTCTTCTGGT	0.502																																																0													90	92	91					11																	62489666		2020	4190	6210	SO:0001583	missense	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1282T>C	11.37:g.62489666A>G	ENSP00000301785:p.Phe428Leu		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458993	0.84317	.	.	ENSG00000214753	ENST00000301785	T	0.46451	0.87	5.65	5.65	0.86999	.	0.053655	0.85682	D	0.000000	T	0.34337	0.0894	L	0.39898	1.24	0.53005	D	0.999964	B	0.34103	0.437	B	0.28991	0.097	T	0.19063	-1.0317	10	0.52906	T	0.07	-10.5608	13.8738	0.63638	1.0:0.0:0.0:0.0	.	428	Q1KMD3	HNRL2_HUMAN	L	428	ENSP00000301785:F428L	ENSP00000301785:F428L	F	-	1	0	HNRNPUL2	62246242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	TTT		0.502	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		G	62489666	A	G	62489666	3	3	183	1	0	0	0	0	1	0	0	0	7277	43	2	3	993	3	HNRNPUL2	11	62489666	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	5017	62489666	72516850	429	11126											
SLC3A2	6520	broad.mit.edu	37	11	62623778	62623778	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:62623778G>A	ENST00000377890.2	+	1	205	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	SLC3A2_ENST00000377891.2_Missense_Mutation_p.V13M|SLC3A2_ENST00000377892.1_Missense_Mutation_p.V13M|SLC3A2_ENST00000377889.2_Missense_Mutation_p.V13M|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000384693.1_RNA|SLC3A2_ENST00000535296.1_Missense_Mutation_p.V13M|SNHG1_ENST00000516331.1_RNA|SNHG1_ENST00000363981.1_RNA|SNHG1_ENST00000383926.1_RNA	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	13					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GATCGCCGTCGTGTCGATTCC	0.632																																																0													124	99	107					11																	62623778		2201	4299	6500	SO:0001583	missense	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.37G>A	11.37:g.62623778G>A	ENSP00000367122:p.Val13Met		Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280180	0.59758	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296	D;D;D;D;D	0.99150	-5.37;-5.01;-5.07;-5.49;-5.13	4.03	-0.327	0.12694	.	.	.	.	.	D	0.95211	0.8447	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.28760	0.221;0.221;0.141;0.221	B;B;B;B	0.21546	0.011;0.015;0.01;0.035	D	0.91369	0.5118	9	0.52906	T	0.07	-1.2936	3.7809	0.08680	0.344:0.1832:0.4728:0.0	.	13;13;13;13	P08195-3;F5GZS6;P08195;P08195-4	.;.;4F2_HUMAN;.	M	13	ENSP00000367124:V13M;ENSP00000367123:V13M;ENSP00000367122:V13M;ENSP00000367121:V13M;ENSP00000444236:V13M	ENSP00000367121:V13M	V	+	1	0	SLC3A2	62380354	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.473000	0.22132	-0.161000	0.10983	0.313000	0.20887	GTG		0.632	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		A	62623778	G	A	62623778	3	1	183	1	0	0	0	0	1	0	0	0	14633	1145	40	1	39	1	SLC3A2	11	62623778	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	134112	62623778	72382738	430	11127											
PLCB3	5331	broad.mit.edu	37	11	64024202	64024202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:64024202C>A	ENST00000540288.1	+	10	1081	c.978C>A	c.(976-978)taC>taA	p.Y326*	PLCB3_ENST00000279230.6_Nonsense_Mutation_p.Y326*|PLCB3_ENST00000325234.5_Nonsense_Mutation_p.Y259*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	326	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGAGTGCCTACTTCATCAACT	0.607																																																0													189	147	161					11																	64024202		2201	4297	6498	SO:0001587	stop_gained	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.978C>A	11.37:g.64024202C>A	ENSP00000443631:p.Tyr326*		A5PKZ6|G5E960|Q8N1A4	Nonsense_Mutation	SNP	ENST00000540288.1	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208972	0.95069	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	.	.	.	4.86	-1.78	0.07957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6634	0.45714	0.0:0.5514:0.0:0.4486	.	.	.	.	X	326;326;259	.	ENSP00000279230:Y326X	Y	+	3	2	PLCB3	63780778	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	0.875000	0.28079	-0.280000	0.09154	0.561000	0.74099	TAC		0.607	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			A	64024202	C	A	64024202	4	1	183	1	0	0	0	0	0	1	0	0	12031	576	20	4	1016	4	PLCB3	11	64024202	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1400424	64024202	70982314	431	11128											
CCDC88B	283234	broad.mit.edu	37	11	64108789	64108789	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:64108789G>A	ENST00000356786.5	+	5	480	c.436G>A	c.(436-438)Gcg>Acg	p.A146T	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	146						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTGTTGGGAGCGTCAGTACA	0.602																																																0													79	74	76					11																	64108789		2201	4297	6498	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.436G>A	11.37:g.64108789G>A	ENSP00000349238:p.Ala146Thr		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	15.56	2.868431	0.51588	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.17213	2.29	3.95	3.95	0.45737	.	.	.	.	.	T	0.38665	0.1049	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.22977	-1.0201	9	0.87932	D	0	.	11.768	0.51941	0.0:0.0:1.0:0.0	.	146;146	B2RTU8;A6NC98	.;CC88B_HUMAN	T	146	ENSP00000349238:A146T	ENSP00000349238:A146T	A	+	1	0	CCDC88B	63865365	0.971000	0.33674	0.974000	0.42286	0.141000	0.21300	1.483000	0.35497	2.232000	0.73038	0.485000	0.47835	GCG		0.602	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		A	64108789	G	A	64108789	3	1	183	1	0	0	0	0	1	0	0	0	2866	971	34	2	454	2	CCDC88B	11	64108789	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	84587	64108789	70897727	432	11129											
CDC42BPG	55561	broad.mit.edu	37	11	64606329	64606329	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:64606329C>T	ENST00000342711.5	-	8	921	c.922G>A	c.(922-924)Gcc>Acc	p.A308T		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGGTCTTGGGCGCTGGCTGGC	0.662																																																0													33	31	32					11																	64606329		2201	4297	6498	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.922G>A	11.37:g.64606329C>T	ENSP00000345133:p.Ala308Thr			Missense_Mutation	SNP	ENST00000342711.5	37	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432484	0.83776	.	.	ENSG00000171219	ENST00000342711	T	0.68025	-0.3	4.57	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000067	T	0.79341	0.4429	M	0.63169	1.94	0.42896	D	0.994218	D	0.89917	1.0	D	0.85130	0.997	T	0.82228	-0.0561	10	0.87932	D	0	.	15.222	0.73320	0.0:1.0:0.0:0.0	.	308	Q6DT37	MRCKG_HUMAN	T	308	ENSP00000345133:A308T	ENSP00000345133:A308T	A	-	1	0	CDC42BPG	64362905	1.000000	0.71417	0.993000	0.49108	0.620000	0.37586	7.556000	0.82233	2.273000	0.75805	0.561000	0.74099	GCC		0.662	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		T	64606329	C	T	64606329	3	4	183	1	0	0	0	0	1	0	0	0	3076	768	27	1	3853	1	CDC42BPG	11	64606329	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	497540	64606329	70400187	433	11130											
SYVN1	84447	broad.mit.edu	37	11	64898665	64898665	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:64898665C>T	ENST00000377190.3	-	9	856	c.762G>A	c.(760-762)caG>caA	p.Q254Q	SYVN1_ENST00000307289.6_Silent_p.Q203Q|SYVN1_ENST00000294256.8_Silent_p.Q254Q|SYVN1_ENST00000526121.1_5'UTR|SYVN1_ENST00000526060.1_Silent_p.Q254Q	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	254	Interaction with p53/TP53.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTTTCTTGAACTGTCTGAAAG	0.572																																																0													87	76	80					11																	64898665		2201	4297	6498	SO:0001819	synonymous_variant	84447			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.762G>A	11.37:g.64898665C>T			Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	CCDS31605.1																																																																																				0.572	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		T	64898665	C	T	64898665	2	4	183	1	0	0	0	0	0	0	0	1	15492	564	20	2		2	SYVN1	11	64898665	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	292336	64898665	70107851	434	11131											
NPAS4	266743	broad.mit.edu	37	11	66192164	66192164	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:66192164T>C	ENST00000311034.2	+	7	1979	c.1803T>C	c.(1801-1803)gaT>gaC	p.D601D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	601					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCTCTGTGGATGTCCCCCTGG	0.582																																																0													67	76	73					11																	66192164		2200	4295	6495	SO:0001819	synonymous_variant	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1803T>C	11.37:g.66192164T>C			B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	CCDS8138.1																																																																																				0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		C	66192164	T	C	66192164	2	2	183	1	0	0	0	0	0	0	0	1	10567	1461	51	3		3	NPAS4	11	66192164	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1293499	66192164	68814352	435	11132											
DPP3	10072	broad.mit.edu	37	11	66262690	66262690	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:66262690C>T	ENST00000360510.2	+	13	1468	c.1403C>T	c.(1402-1404)gCa>gTa	p.A468V	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000541961.1_Missense_Mutation_p.A468V|DPP3_ENST00000453114.1_Missense_Mutation_p.A468V|DPP3_ENST00000530165.1_Missense_Mutation_p.A438V|DPP3_ENST00000531863.1_Missense_Mutation_p.A488V|DPP3_ENST00000532677.1_Missense_Mutation_p.A487V			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	468					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GAAAAAGGAGCATTCAACTTT	0.612																																																0													85	85	85					11																	66262690		2200	4295	6495	SO:0001583	missense	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1403C>T	11.37:g.66262690C>T	ENSP00000353701:p.Ala468Val		B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.652884	0.29336	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.8	2.96	0.34315	.	0.378221	0.32548	N	0.005947	T	0.09468	0.0233	N	0.04880	-0.145	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30707	-0.9969	10	0.25751	T	0.34	.	9.6003	0.39601	0.0:0.7793:0.0:0.2207	.	487;468	G3V1D3;Q9NY33	.;DPP3_HUMAN	V	488;487;468;468;468;438;366	ENSP00000432782:A488V;ENSP00000435284:A487V;ENSP00000353701:A468V;ENSP00000389943:A468V;ENSP00000440502:A468V;ENSP00000436941:A438V	ENSP00000353701:A468V	A	+	2	0	DPP3	66019266	0.902000	0.30710	0.536000	0.28039	0.705000	0.40729	1.817000	0.39002	0.395000	0.25257	-0.140000	0.14226	GCA		0.612	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			T	66262690	C	T	66262690	3	4	183	1	0	0	0	0	1	0	0	0	4730	710	25	2	1449	2	DPP3	11	66262690	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	70526	66262690	68743826	436	11133											
KDM2A	22992	broad.mit.edu	37	11	66999421	66999421	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:66999421C>T	ENST00000529006.2	+	12	1915	c.1469C>T	c.(1468-1470)gCt>gTt	p.A490V	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.A490V	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	490					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GCTCTCATTGCTGATGTAAAG	0.458																																																0													188	184	186					11																	66999421		2047	4198	6245	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1469C>T	11.37:g.66999421C>T	ENSP00000432786:p.Ala490Val		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595457	0.46318	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.45276	0.9;2.22	5.91	5.91	0.95273	.	0.469117	0.24771	N	0.035736	T	0.34919	0.0914	L	0.34521	1.04	0.80722	D	1	B	0.23937	0.094	B	0.15870	0.014	T	0.04825	-1.0924	10	0.31617	T	0.26	-11.9829	17.4691	0.87641	0.0:1.0:0.0:0.0	.	490	Q9Y2K7	KDM2A_HUMAN	V	490	ENSP00000381640:A490V;ENSP00000432786:A490V	ENSP00000381640:A490V	A	+	2	0	KDM2A	66755997	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	3.622000	0.54217	2.817000	0.96982	0.643000	0.83706	GCT		0.458	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		T	66999421	C	T	66999421	3	4	183	1	0	0	0	0	1	0	0	0	8126	797	28	2	1511	2	KDM2A	11	66999421	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	736731	66999421	68007095	437	11134											
ANKRD13D	338692	broad.mit.edu	37	11	67068486	67068486	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:67068486G>A	ENST00000447274.2	+	11	2013	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.E280K|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.E17K|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.E367K|SSH3_ENST00000308298.7_5'Flank|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.E280K			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	280						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTGGCTGAGTGAAGAGCACCC	0.602																																																0													121	95	104					11																	67068486		2200	4295	6495	SO:0001583	missense	338692			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"Ankyrin repeat domain containing"	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.838G>A	11.37:g.67068486G>A	ENSP00000402616:p.Glu280Lys		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37		.	.	.	.	.	.	.	.	.	.	G	31	5.074552	0.94000	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.71871	2.18	0.80722	D	1	D;P;B	0.55385	0.971;0.913;0.334	P;P;B	0.54706	0.717;0.759;0.297	T	0.60172	-0.7315	10	0.46703	T	0.11	-16.4398	17.7879	0.88543	0.0:0.0:1.0:0.0	.	17;367;280	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	K	280;367;280;280;17	ENSP00000402616:E280K;ENSP00000427130:E367K;ENSP00000310874:E280K;ENSP00000444404:E280K;ENSP00000443977:E17K	ENSP00000310874:E280K	E	+	1	0	ANKRD13D	66825062	1.000000	0.71417	0.992000	0.48379	0.643000	0.38383	9.574000	0.98184	2.517000	0.84864	0.561000	0.74099	GAA		0.602	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		A	67068486	G	A	67068486	3	1	183	1	0	0	0	0	1	0	0	0	644	1291	45	2	1141	2	ANKRD13D	11	67068486	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	69065	67068486	67938030	438	11135											
SSH3	54961	broad.mit.edu	37	11	67075160	67075160	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:67075160C>T	ENST00000308127.4	+	7	921	c.743C>T	c.(742-744)gCt>gTt	p.A248V	SSH3_ENST00000532181.1_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.A248V|SSH3_ENST00000308298.7_Missense_Mutation_p.A248V	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	248					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGTGGACGGCTATGGCCGAC	0.652																																																0													36	40	39					11																	67075160		2200	4295	6495	SO:0001583	missense	54961			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.743C>T	11.37:g.67075160C>T	ENSP00000312081:p.Ala248Val		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840812	0.51057	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.35421	3.66;1.31;3.75	4.5	3.59	0.41128	.	0.000000	0.64402	D	0.000012	T	0.36138	0.0956	L	0.61218	1.895	0.50171	D	0.99985	P;B	0.51537	0.946;0.243	B;B	0.43155	0.41;0.168	T	0.23511	-1.0186	10	0.52906	T	0.07	-11.1636	10.3047	0.43674	0.0:0.9042:0.0:0.0958	.	102;248	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	V	248	ENSP00000312081:A248V;ENSP00000310055:A248V;ENSP00000365948:A248V	ENSP00000312081:A248V	A	+	2	0	SSH3	66831736	0.992000	0.36948	1.000000	0.80357	0.563000	0.35712	1.599000	0.36751	1.040000	0.40099	0.462000	0.41574	GCT		0.652	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		T	67075160	C	T	67075160	3	4	183	1	0	0	0	0	1	0	0	0	15191	797	28	2	769	2	SSH3	11	67075160	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	6674	67075160	67931356	439	11136											
CORO1B	57175	broad.mit.edu	37	11	67207642	67207642	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:67207642A>G	ENST00000341356.5	-	8	1064	c.954T>C	c.(952-954)ggT>ggC	p.G318G	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Silent_p.G318G	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	318					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGCTGCCCATACCCCGCTGCG	0.612																																																0													68	71	70					11																	67207642		2200	4295	6495	SO:0001819	synonymous_variant	57175			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.954T>C	11.37:g.67207642A>G			B2RD45	Silent	SNP	ENST00000341356.5	37	CCDS8164.1																																																																																				0.612	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		G	67207642	A	G	67207642	2	3	183	1	0	0	0	0	0	0	0	1	3756	378	14	3		3	CORO1B	11	67207642	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	132482	67207642	67798874	440	11137											
C11orf24	53838	broad.mit.edu	37	11	68029863	68029863	+	Silent	SNP	C	C	T	rs547273966	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:68029863C>T	ENST00000304271.6	-	4	1002	c.600G>A	c.(598-600)gcG>gcA	p.A200A	C11orf24_ENST00000530166.1_5'Flank|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	200						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TTCTTGGCAACGCGCTGCTCT	0.617													C|||	10	0.00199681	0.0	0.0	5008	,	,		19083	0.0		0.0	False		,,,				2504	0.0102				NSCLC(21;855 905 4198 36694)											0													88	80	83					11																	68029863		2200	4294	6494	SO:0001819	synonymous_variant	53838			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.600G>A	11.37:g.68029863C>T			Q9H2K4	Silent	SNP	ENST00000304271.6	37	CCDS8180.1																																																																																				0.617	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		T	68029863	C	T	68029863	2	4	183	1	0	0	0	0	0	0	0	1	1637	523	19	1		1	C11orf24	11	68029863	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	822221	68029863	66976653	441	11138											
PAAF1	80227	broad.mit.edu	37	11	73610254	73610254	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:73610254A>G	ENST00000310571.3	+	5	399	c.346A>G	c.(346-348)Atg>Gtg	p.M116V	PAAF1_ENST00000541951.1_Start_Codon_SNP_p.M1V|PAAF1_ENST00000536003.1_Missense_Mutation_p.M99V|PAAF1_ENST00000535604.1_Start_Codon_SNP_p.M1V|PAAF1_ENST00000544909.1_Missense_Mutation_p.M117V|PAAF1_ENST00000544552.1_Missense_Mutation_p.M99V|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000376384.5_Missense_Mutation_p.M99V	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	116					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGACGGGACCATGAAAATCTG	0.433																																																0													97	94	95					11																	73610254		2200	4293	6493	SO:0001583	missense	80227			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"WD repeat domain containing"	25687	protein-coding gene	gene with protein product			"WD repeat domain 71"	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.346A>G	11.37:g.73610254A>G	ENSP00000311665:p.Met116Val		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.633045	0.47049	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000542293;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000536582;ENST00000544909	T;T;T;T;T;T;T;T;T;T;T	0.56941	0.55;0.73;0.73;0.73;0.55;0.43;0.73;0.73;0.73;0.73;0.73	4.78	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	N	0.04373	-0.215	0.38797	D	0.955117	P;B	0.43578	0.811;0.45	P;B	0.60789	0.879;0.176	T	0.51865	-0.8651	10	0.22706	T	0.39	-16.4121	13.1251	0.59349	1.0:0.0:0.0:0.0	.	99;116	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	V	1;116;99;99;1;1;99;99;99;94;117	ENSP00000441333:M1V;ENSP00000311665:M116V;ENSP00000439747:M99V;ENSP00000438894:M99V;ENSP00000438789:M1V;ENSP00000439143:M1V;ENSP00000438124:M99V;ENSP00000441494:M99V;ENSP00000365564:M99V;ENSP00000443473:M94V;ENSP00000438071:M117V	ENSP00000311665:M116V	M	+	1	0	PAAF1	73287902	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	6.384000	0.73177	1.785000	0.52413	0.533000	0.62120	ATG		0.433	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		G	73610254	A	G	73610254	3	3	183	1	0	0	0	0	1	0	0	0	11364	217	8	3	364	3	PAAF1	11	73610254	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	5580391	73610254	61396262	442	11139											
ARRB1	408	broad.mit.edu	37	11	74985123	74985123	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:74985123G>A	ENST00000420843.2	-	11	1006	c.909C>T	c.(907-909)agC>agT	p.S303S	ARRB1_ENST00000393505.4_Silent_p.S303S|ARRB1_ENST00000360025.3_Silent_p.S303S	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	303					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTCACAGGGTGCTAGAGGCCA	0.602																																																0													255	206	223					11																	74985123		2200	4293	6493	SO:0001819	synonymous_variant	408			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.909C>T	11.37:g.74985123G>A			B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Silent	SNP	ENST00000420843.2	37	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244678	0.22796	.	.	ENSG00000137486	ENST00000532447	.	.	.	4.51	3.35	0.38373	.	.	.	.	.	T	0.60599	0.2281	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58549	-0.7617	4	.	.	.	-11.1232	10.695	0.45894	0.1152:0.0:0.8848:0.0	.	.	.	.	Y	128	.	.	H	-	1	0	ARRB1	74662771	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.986000	0.56937	2.058000	0.61347	0.462000	0.41574	CAC		0.602	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		A	74985123	G	A	74985123	2	1	183	1	0	0	0	0	0	0	0	1	980	1310	46	2		2	ARRB1	11	74985123	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1374869	74985123	60021393	443	11140											
TRIM49	57093	broad.mit.edu	37	11	89537226	89537226	+	Splice_Site	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:89537226delC	ENST00000329758.1	-	3	740		c.e3+1		TRIM49_ENST00000532501.2_Splice_Site	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCATCACTTACCCGGTGTTCC	0.493																																																0													20	20	20					11																	89537226		2016	4014	6030	SO:0001630	splice_region_variant	57093			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.411+1G>-	11.37:g.89537226delC			A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Splice_Site	DEL	ENST00000329758.1	37	CCDS8287.1																																																																																				0.493	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358	Intron	-	89537226	C	-	89537226	8	5	183	1	0	1	0	1	0	0	1	0	16529	521	18	0	970	0	TRIM49	11	89537226	Splice_Site	DEL	C	TCGA-B0-5098-01A-01D-1421-08	14552103	89537226	45469290	444	11141											
MRE11A	4361	broad.mit.edu	37	11	94203744	94203744	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:94203744C>T	ENST00000323929.3	-	9	1132	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	MRE11A_ENST00000393241.4_Missense_Mutation_p.V304M|MRE11A_ENST00000323977.3_Missense_Mutation_p.V304M|MRE11A_ENST00000407439.3_Missense_Mutation_p.V307M|RP11-685N10.1_ENST00000541092.1_RNA	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	304					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AACTGCCGCACTGTGTGAAGA	0.398								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																							0													130	117	121					11																	94203744		2201	4297	6498	SO:0001583	missense	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.910G>A	11.37:g.94203744C>T	ENSP00000325863:p.Val304Met		O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963207	0.92791	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.22	5.22	0.72569	Mre11, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93703	0.7988	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.992;0.974;1.0	D	0.95047	0.8183	10	0.87932	D	0	-16.6672	19.1322	0.93412	0.0:1.0:0.0:0.0	.	307;304;304	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	M	304;307;304;304	ENSP00000325863:V304M;ENSP00000385614:V307M;ENSP00000326094:V304M;ENSP00000376933:V304M	ENSP00000325863:V304M	V	-	1	0	MRE11A	93843392	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.285000	0.78660	2.570000	0.86706	0.650000	0.86243	GTG		0.398	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		T	94203744	C	T	94203744	3	4	183	1	0	0	0	0	1	0	0	0	9761	565	20	2	1264	2	MRE11A	11	94203744	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	4666518	94203744	40802772	445	11142											
TMPRSS4	56649	broad.mit.edu	37	11	117984053	117984053	+	Silent	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:117984053G>T	ENST00000437212.3	+	9	1027	c.813G>T	c.(811-813)ctG>ctT	p.L271L	TMPRSS4_ENST00000523251.1_Silent_p.L231L|TMPRSS4_ENST00000534111.1_Silent_p.L269L|TMPRSS4_ENST00000522307.1_Silent_p.L124L|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000522824.1_Silent_p.L266L			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	271	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TCCCATCCCTGGCTGTGGCCA	0.537																																																0													178	158	165					11																	117984053		2200	4296	6496	SO:0001819	synonymous_variant	56649			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.813G>T	11.37:g.117984053G>T			A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	G	0.812	-0.751744	0.03041	.	.	ENSG00000137648	ENST00000524218	.	.	.	5.21	2.34	0.29019	.	.	.	.	.	T	0.51822	0.1697	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.37731	-0.9693	4	.	.	.	.	4.9911	0.14214	0.2566:0.1524:0.591:0.0	.	.	.	.	L	16	.	.	W	+	2	0	TMPRSS4	117489263	0.160000	0.22878	0.944000	0.38274	0.083000	0.17756	0.264000	0.18497	0.219000	0.20840	-0.150000	0.13652	TGG		0.537	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		T	117984053	G	T	117984053	2	4	183	1	0	0	0	0	0	0	0	1	16254	1335	47	4		4	TMPRSS4	11	117984053	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	23780309	117984053	17022463	446	11143											
DPAGT1	1798	broad.mit.edu	37	11	118971120	118971120	+	Splice_Site	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:118971120T>G	ENST00000409993.2	-	6	2048		c.e6-2		DPAGT1_ENST00000445653.1_5'Flank|DPAGT1_ENST00000354202.4_Splice_Site|DPAGT1_ENST00000432443.2_Splice_Site			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ACAGGATTCCTGCGGGGAGAG	0.493											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													69	69	69					11																	118971120		2200	4295	6495	SO:0001630	splice_region_variant	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.497-2A>C	11.37:g.118971120T>G		1492	O15216|Q86WV9|Q9BWE6	Splice_Site	SNP	ENST00000409993.2	37	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.713212	0.48517	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0511	0.71872	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPAGT1	118476330	1.000000	0.71417	0.960000	0.40013	0.689000	0.40095	8.040000	0.89188	2.145000	0.66743	0.533000	0.62120	.		0.493	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382	Intron	G	118971120	T	G	118971120	5	3	183	1	0	0	0	0	0	0	1	0	4712	1594	55	5	755	5	DPAGT1	11	118971120	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	987067	118971120	16035396	447	11144											
ABCG4	64137	broad.mit.edu	37	11	119025497	119025497	+	Silent	SNP	G	G	A	rs375767553		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:119025497G>A	ENST00000449422.2	+	6	746	c.558G>A	c.(556-558)acG>acA	p.T186T	ABCG4_ENST00000307417.3_Silent_p.T186T|ABCG4_ENST00000531739.1_Silent_p.T186T	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	186	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGATCCTGACGGCACTGGGCC	0.647																																																0								G	,	1,4399	2.1+/-5.4	0,1,2199	92	87	89		558,558	-6.6	0.9	11		89	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	ABCG4	NM_001142505.1,NM_022169.4	,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,	186/647,186/647	119025497	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.558G>A	11.37:g.119025497G>A			A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	CCDS8415.1																																																																																				0.647	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		A	119025497	G	A	119025497	2	1	183	1	0	0	0	0	0	0	0	1	70	1103	39	1		1	ABCG4	11	119025497	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	54377	119025497	15981019	448	11145											
C1QTNF5	114902	broad.mit.edu	37	11	119210050	119210050	+	Silent	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:119210050G>C	ENST00000528368.1	-	3	954	c.723C>G	c.(721-723)gtC>gtG	p.V241V	MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR|RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000445041.2_Silent_p.V241V|MFRP_ENST00000555262.1_3'UTR	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	241						collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ACTAAGCAAAGACTGGGGAGC	0.567																																																0													85	82	83					11																	119210050		2199	4295	6494	SO:0001819	synonymous_variant	114902			AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"complement-c1q tumor necrosis factor-related protein 5", "complement C1q tumor necrosis factor-related protein 5 precursor variant 3"	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.723C>G	11.37:g.119210050G>C			A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Silent	SNP	ENST00000528368.1	37	CCDS8420.1																																																																																				0.567	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388354.1	NM_015645		C	119210050	G	C	119210050	2	2	183	1	0	0	0	0	0	0	0	1	1968	929	33	4		4	C1QTNF5	11	119210050	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	184553	119210050	15796466	449	11146											
TECTA	7007	broad.mit.edu	37	11	120976644	120976644	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:120976644T>C	ENST00000392793.1	+	3	440	c.169T>C	c.(169-171)Ttc>Ctc	p.F57L	TECTA_ENST00000264037.2_Missense_Mutation_p.F57L			O75443	TECTA_HUMAN	tectorin alpha	57					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCAGTTTTCTTCTTTGGCGT	0.448																																																0													264	255	258					11																	120976644		2203	4299	6502	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.169T>C	11.37:g.120976644T>C	ENSP00000376543:p.Phe57Leu			Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.002348	0.93227	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.84589	-1.87;-1.87	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	M	0.72624	2.21	0.46096	D	0.998867	P	0.46656	0.882	P	0.48571	0.582	D	0.89516	0.3775	10	0.72032	D	0.01	.	16.1193	0.81336	0.0:0.0:0.0:1.0	.	57	O75443	TECTA_HUMAN	L	57	ENSP00000376543:F57L;ENSP00000264037:F57L	ENSP00000264037:F57L	F	+	1	0	TECTA	120481854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.759000	0.85235	2.204000	0.70986	0.528000	0.53228	TTC		0.448	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		C	120976644	T	C	120976644	3	2	183	1	0	0	0	0	1	0	0	0	15752	1609	56	3	175	3	TECTA	11	120976644	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1766594	120976644	14029872	450	11147											
OR10G8	219869	broad.mit.edu	37	11	123900597	123900597	+	Missense_Mutation	SNP	G	G	A	rs200159598	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:123900597G>A	ENST00000431524.1	+	1	301	c.268G>A	c.(268-270)Gct>Act	p.A90T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGTGGCAGGGCTATCTCCTT	0.512													G|||	2	0.000399361	0.0	0.0	5008	,	,		22504	0.001		0.001	False		,,,				2504	0.0															0													205	180	188					11																	123900597		2201	4299	6500	SO:0001583	missense	219869			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.268G>A	11.37:g.123900597G>A	ENSP00000389072:p.Ala90Thr		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0	-2.709569	0.00094	.	.	ENSG00000234560	ENST00000431524	T	0.00524	6.82	2.95	0.678	0.17969	GPCR, rhodopsin-like superfamily (1);	0.625624	0.14034	N	0.345913	T	0.00210	0.0006	N	0.05554	-0.025	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.39292	-0.9621	10	0.02654	T	1	.	4.9445	0.13982	0.1523:0.2087:0.6391:0.0	.	90	Q8NGN5	O10G8_HUMAN	T	90	ENSP00000389072:A90T	ENSP00000389072:A90T	A	+	1	0	OR10G8	123405807	0.000000	0.05858	0.013000	0.15412	0.022000	0.10575	-0.995000	0.03712	0.011000	0.14865	0.585000	0.79938	GCT		0.512	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		A	123900597	G	A	123900597	3	1	183	1	0	0	0	0	1	0	0	0	10905	1203	42	2	270	2	OR10G8	11	123900597	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2923953	123900597	11105919	451	11148			1	20		5	5	8918	N	T_G_C	9.865791e-05
OR10G7	390265	broad.mit.edu	37	11	123909233	123909233	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:123909233G>A	ENST00000330487.5	-	1	484	c.476C>T	c.(475-477)aCc>aTc	p.T159I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGTCAATATGGTCTGGACAGC	0.572																																																0													148	143	144					11																	123909233		2200	4295	6495	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.476C>T	11.37:g.123909233G>A	ENSP00000329689:p.Thr159Ile		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901174	0.33535	.	.	ENSG00000182634	ENST00000330487	T	0.00245	8.45	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.139097	0.33075	N	0.005307	T	0.00384	0.0012	M	0.63843	1.955	0.32397	N	0.55248	D	0.56287	0.975	D	0.68192	0.956	T	0.63594	-0.6602	10	0.41790	T	0.15	.	10.1133	0.42576	0.0:0.0:0.7995:0.2005	.	159	Q8NGN6	O10G7_HUMAN	I	159	ENSP00000329689:T159I	ENSP00000329689:T159I	T	-	2	0	OR10G7	123414443	0.000000	0.05858	0.748000	0.31131	0.372000	0.29890	-0.050000	0.11904	1.826000	0.53198	0.455000	0.32223	ACC		0.572	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		A	123909233	G	A	123909233	3	1	183	1	0	0	0	0	1	0	0	0	10904	1261	44	2	463	2	OR10G7	11	123909233	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	8636	123909233	11097283	452	11149			1	20		5	5	8918	N	T_G_C	9.865791e-05
OR10G7	390265	broad.mit.edu	37	11	123909420	123909420	+	Missense_Mutation	SNP	C	C	T	rs147002134	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:123909420C>T	ENST00000330487.5	-	1	297	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCTGAGCCACGCAGCTGTGG	0.537													C|||	6	0.00119808	0.0	0.0	5008	,	,		21365	0.0		0.001	False		,,,				2504	0.0051															0								C	MET/VAL	0,4400		0,0,2200	160	173	169		289	0.4	0.2	11	dbSNP_134	169	8,8590	6.4+/-24.3	0,8,4291	no	missense	OR10G7	NM_001004463.1	21	0,8,6491	TT,TC,CC		0.093,0.0,0.0615	benign	97/312	123909420	8,12990	2200	4299	6499	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.289G>A	11.37:g.123909420C>T	ENSP00000329689:p.Val97Met		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.163	-0.643153	0.03531	0.0	9.3E-4	ENSG00000182634	ENST00000330487	T	0.00366	7.79	3.39	0.406	0.16366	GPCR, rhodopsin-like superfamily (1);	0.660744	0.13193	N	0.406531	T	0.00210	0.0006	L	0.31065	0.9	0.21256	N	0.999749	B	0.29341	0.242	B	0.32677	0.15	T	0.16867	-1.0388	10	0.17369	T	0.5	.	7.5327	0.27691	0.0:0.5071:0.0:0.4928	.	97	Q8NGN6	O10G7_HUMAN	M	97	ENSP00000329689:V97M	ENSP00000329689:V97M	V	-	1	0	OR10G7	123414630	0.000000	0.05858	0.188000	0.23233	0.066000	0.16364	-0.978000	0.03778	-0.014000	0.14175	-0.391000	0.06502	GTG		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		T	123909420	C	T	123909420	3	4	183	1	0	0	0	0	1	0	0	0	10904	536	19	1	650	1	OR10G7	11	123909420	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	187	123909420	11097096	453	11150			1	20		5	5	8918	N	T_G_C	9.865791e-05
OR10G7	390265	broad.mit.edu	37	11	123909474	123909474	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:123909474T>A	ENST00000330487.5	-	1	243	c.235A>T	c.(235-237)Atg>Ttg	p.M79L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTCATCAGCATTTTGGGCACC	0.537																																																0													131	141	138					11																	123909474		2200	4299	6499	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.235A>T	11.37:g.123909474T>A	ENSP00000329689:p.Met79Leu		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	T	9.342	1.063227	0.19987	.	.	ENSG00000182634	ENST00000330487	T	0.04862	3.54	3.39	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.114545	0.40222	N	0.001142	T	0.04952	0.0133	L	0.33485	1.01	0.27114	N	0.962294	B	0.02656	0.0	B	0.06405	0.002	T	0.33904	-0.9850	10	0.31617	T	0.26	.	7.6275	0.28220	0.0:0.1079:0.0:0.8921	.	79	Q8NGN6	O10G7_HUMAN	L	79	ENSP00000329689:M79L	ENSP00000329689:M79L	M	-	1	0	OR10G7	123414684	0.000000	0.05858	1.000000	0.80357	0.854000	0.48673	-1.627000	0.02033	0.516000	0.28340	0.374000	0.22700	ATG		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		A	123909474	T	A	123909474	3	1	183	1	0	0	0	0	1	0	0	0	10904	1493	52	5	704	5	OR10G7	11	123909474	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	54	123909474	11097042	454	11151			1	20		5	5	8918	N	T_G_C	9.865791e-05
OR10G7	390265	broad.mit.edu	37	11	123909514	123909514	+	Silent	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:123909514G>C	ENST00000330487.5	-	1	203	c.195C>G	c.(193-195)tcC>tcG	p.S65S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTCAATGAAGGACAGGTTGG	0.552																																																0													25	26	26					11																	123909514		2200	4291	6491	SO:0001819	synonymous_variant	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.195C>G	11.37:g.123909514G>C			Q6IFE8	Silent	SNP	ENST00000330487.5	37	CCDS31705.1																																																																																				0.552	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		C	123909514	G	C	123909514	2	2	183	1	0	0	0	0	0	0	0	1	10904	987	35	4		4	OR10G7	11	123909514	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	40	123909514	11097002	455	11152			1	20		5	5	8918	N	T_G_C	9.865791e-05
ST3GAL4	6484	broad.mit.edu	37	11	126283516	126283516	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:126283516T>C	ENST00000526727.1	+	9	1262	c.888T>C	c.(886-888)taT>taC	p.Y296Y	ST3GAL4_ENST00000530591.1_Silent_p.Y292Y|ST3GAL4_ENST00000356132.4_Silent_p.Y302Y|ST3GAL4_ENST00000227495.6_Silent_p.Y292Y|ST3GAL4_ENST00000449406.2_Silent_p.Y285Y|ST3GAL4_ENST00000534083.1_Silent_p.Y296Y|ST3GAL4_ENST00000534457.1_Silent_p.Y291Y|ST3GAL4_ENST00000444328.2_Silent_p.Y296Y|ST3GAL4_ENST00000392669.2_Silent_p.Y296Y|ST3GAL4_ENST00000532243.1_Silent_p.Y295Y			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	296					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TTCACTACTATGAGCAGATCA	0.587																																																0													116	93	101					11																	126283516		2201	4297	6498	SO:0001819	synonymous_variant	6484			X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.888T>C	11.37:g.126283516T>C			A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Silent	SNP	ENST00000526727.1	37	CCDS58193.1																																																																																				0.587	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		C	126283516	T	C	126283516	2	2	183	1	0	0	0	0	0	0	0	1	15222	1471	51	3		3	ST3GAL4	11	126283516	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2374002	126283516	8723000	456	11153											
ARHGAP32	9743	broad.mit.edu	37	11	128851410	128851410	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:128851410T>C	ENST00000310343.9	-	16	1638	c.1639A>G	c.(1639-1641)Atg>Gtg	p.M547V	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.M198V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M473V|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.M198V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	547	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCACTTCCATGAAAGCTGCT	0.473																																																0													141	114	123					11																	128851410		2201	4297	6498	SO:0001583	missense	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1639A>G	11.37:g.128851410T>C	ENSP00000310561:p.Met547Val		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.168469	0.57584	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.7	5.7	0.88788	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	N	0.25890	0.77	0.58432	D	0.999996	P;B	0.48640	0.913;0.374	P;B	0.48873	0.593;0.118	T	0.01460	-1.1349	10	0.56958	D	0.05	.	15.6313	0.76912	0.0:0.0:0.0:1.0	.	481;547	Q86T64;A7KAX9	.;RHG32_HUMAN	V	547;198;473;481;198;257	ENSP00000310561:M547V;ENSP00000376425:M198V;ENSP00000432468:M473V;ENSP00000432862:M198V	ENSP00000310561:M547V	M	-	1	0	ARHGAP32	128356620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.954000	0.70298	2.183000	0.69458	0.533000	0.62120	ATG		0.473	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		C	128851410	T	C	128851410	3	2	183	1	0	0	0	0	1	0	0	0	881	1464	51	3	4652	3	ARHGAP32	11	128851410	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2567894	128851410	6155106	457	11154											
PRDM10	56980	broad.mit.edu	37	11	129794867	129794867	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:129794867A>G	ENST00000360871.3	-	12	2019	c.1788T>C	c.(1786-1788)ctT>ctC	p.L596L	PRDM10_ENST00000528746.1_Silent_p.L570L|PRDM10_ENST00000526082.1_Silent_p.L514L|PRDM10_ENST00000358825.5_Silent_p.L600L|PRDM10_ENST00000423662.2_Silent_p.L514L|PRDM10_ENST00000304538.6_Silent_p.L510L	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCAACAAATCAAGGCGGTCAA	0.458																																																0													139	142	141					11																	129794867		2201	4297	6498	SO:0001819	synonymous_variant	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1788T>C	11.37:g.129794867A>G			B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																				0.458	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		G	129794867	A	G	129794867	2	3	183	1	0	0	0	0	0	0	0	1	12456	117	5	3		3	PRDM10	11	129794867	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	943457	129794867	5211649	458	11155											
ZBTB44	29068	broad.mit.edu	37	11	130131061	130131061	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr11:130131061A>G	ENST00000357899.4	-	2	980	c.708T>C	c.(706-708)atT>atC	p.I236I	ZBTB44_ENST00000525842.1_Silent_p.I236I|ZBTB44_ENST00000397753.1_Silent_p.I236I|ZBTB44_ENST00000530205.1_Silent_p.I236I			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TCCTTCGATCAATTCCAAAAG	0.428																																																0													66	60	62					11																	130131061		1834	4086	5920	SO:0001819	synonymous_variant	29068			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.708T>C	11.37:g.130131061A>G			Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.657|6.657	0.489670|0.489670	0.12702|0.12702	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000529982|ENST00000527478	.|.	.|.	.|.	5.47|5.47	4.33|4.33	0.51752|0.51752	.|.	.|.	.|.	.|.	.|.	T|.	0.63165|.	0.2488|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59904|.	-0.7366|.	4|.	.|.	.|.	.|.	.|.	11.9856|11.9856	0.53145|0.53145	0.8704:0.0:0.0:0.1296|0.8704:0.0:0.0:0.1296	.|.	.|.	.|.	.|.	S|R	90|233	.|.	.|.	L|X	-|-	2|1	0|0	ZBTB44|ZBTB44	129636271|129636271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.238000|3.238000	0.51352|0.51352	0.869000|0.869000	0.35703|0.35703	0.460000|0.460000	0.39030|0.39030	TTG|TGA		0.428	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		G	130131061	A	G	130131061	2	3	183	1	0	0	0	0	0	0	0	1	17550	126	5	3		3	ZBTB44	11	130131061	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	336194	130131061	4875455	459	11156											
SLC6A12	6539	broad.mit.edu	37	12	309834	309834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:309834delC	ENST00000428720.1	-	7	1437	c.694delG	c.(694-696)gtcfs	p.V232fs	SLC6A12_ENST00000359674.4_Frame_Shift_Del_p.V232fs|SLC6A12_ENST00000536824.1_Frame_Shift_Del_p.V232fs|SLC6A12_ENST00000397296.2_Frame_Shift_Del_p.V232fs|RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000424061.2_Frame_Shift_Del_p.V232fs	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	232					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GTGGACTTGACCCCCTTCCAG	0.622																																																0													132	133	133					12																	309834		2203	4300	6503	SO:0001589	frameshift_variant	6539			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.694delG	12.37:g.309834delC	ENSP00000388184:p.Val232fs		A0AV52|B2R992|D3DUN8	Frame_Shift_Del	DEL	ENST00000428720.1	37	CCDS8501.1																																																																																				0.622	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		-	309834	C	-	309834	7	5	183	1	0	1	0	1	0	0	0	0	14681	507	18	0	1190	0	SLC6A12	12	309834	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08		309834	133542061	460	11157											
RAD52	5893	broad.mit.edu	37	12	1036424	1036424	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:1036424A>G	ENST00000358495.3	-	6	492	c.354T>C	c.(352-354)ggT>ggC	p.G118G	RAD52_ENST00000536177.1_Silent_p.G118G|RAD52_ENST00000430095.2_Silent_p.G118G|RAD52_ENST00000539046.1_Silent_p.G41G|RAD52_ENST00000545564.1_Silent_p.G118G	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	118					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CATGATATGAACCATCCTGGG	0.532								Homologous recombination																																								0													152	153	153					12																	1036424		2203	4300	6503	SO:0001819	synonymous_variant	5893				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"RAD52 (S. cerevisiae) homolog"			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.354T>C	12.37:g.1036424A>G			Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Silent	SNP	ENST00000358495.3	37	CCDS8507.2																																																																																				0.532	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		G	1036424	A	G	1036424	2	3	183	1	0	0	0	0	0	0	0	1	12997	30	2	3		3	RAD52	12	1036424	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	726590	1036424	132815471	461	11158											
FBXL14	144699	broad.mit.edu	37	12	1702059	1702059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:1702059G>A	ENST00000339235.3	-	1	1272	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	392					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			TCCGTCATCTGCCAGAGTCCC	0.632																																																0													63	57	59					12																	1702059		2203	4300	6503	SO:0001587	stop_gained	144699			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.1174C>T	12.37:g.1702059G>A	ENSP00000344855:p.Gln392*			Nonsense_Mutation	SNP	ENST00000339235.3	37	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	G	38	7.166320	0.98107	.	.	ENSG00000171823	ENST00000339235	.	.	.	5.03	5.03	0.67393	.	0.134395	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	15.2561	0.73585	0.0:0.1506:0.8493:0.0	.	.	.	.	X	392	.	ENSP00000344855:Q392X	Q	-	1	0	FBXL14	1572320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.254000	0.72460	2.598000	0.87819	0.650000	0.86243	CAG		0.632	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		A	1702059	G	A	1702059	4	1	183	1	0	0	0	0	0	1	0	0	5712	1328	46	2	90	2	FBXL14	12	1702059	Nonsense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	665635	1702059	132149836	462	11159											
DYRK4	8798	broad.mit.edu	37	12	4721810	4721810	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:4721810G>T	ENST00000540757.2	+	12	1407	c.1247G>T	c.(1246-1248)aGg>aTg	p.R416M	DYRK4_ENST00000543431.1_Missense_Mutation_p.R416M|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000545342.1_Missense_Mutation_p.R53M|DYRK4_ENST00000010132.5_Missense_Mutation_p.R416M	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	416						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAGACCCTGAGGAAATCCAAT	0.532																																																0													113	103	107					12																	4721810		2203	4300	6503	SO:0001583	missense	8798			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1247G>T	12.37:g.4721810G>T	ENSP00000441755:p.Arg416Met		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	CCDS8530.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.29|13.29	2.192857|2.192857	0.38707|0.38707	.|.	.|.	ENSG00000010219|ENSG00000010219	ENST00000544671|ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342	.|T;T;T;T;T	.|0.73681	.|2.08;2.08;2.08;2.08;-0.77	5.81|5.81	3.97|3.97	0.46021|0.46021	.|Protein kinase-like domain (1);	.|0.248284	.|0.39909	.|N	.|0.001237	T|T	0.77418|0.77418	0.4127|0.4127	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|D;D;P;P	.|0.71674	.|0.986;0.998;0.928;0.943	.|P;P;P;P	.|0.57324	.|0.794;0.818;0.641;0.646	T|T	0.77963|0.77963	-0.2390|-0.2390	5|10	.|0.52906	.|T	.|0.07	.|.	10.6659|10.6659	0.45731|0.45731	0.2086:0.0:0.7914:0.0|0.2086:0.0:0.7914:0.0	.|.	.|531;130;416;416	.|F5H6L9;B4E1A4;Q9NR20-2;Q9NR20	.|.;.;.;DYRK4_HUMAN	D|M	77|531;416;416;416;53	.|ENSP00000437534:R531M;ENSP00000441755:R416M;ENSP00000010132:R416M;ENSP00000439697:R416M;ENSP00000446005:R53M	.|ENSP00000010132:R416M	E|R	+|+	3|2	2|0	DYRK4|DYRK4	4592071|4592071	0.975000|0.975000	0.34042|0.34042	0.817000|0.817000	0.32601|0.32601	0.002000|0.002000	0.02628|0.02628	1.444000|1.444000	0.35068|0.35068	1.461000|1.461000	0.47929|0.47929	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.532	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			T	4721810	G	T	4721810	3	4	183	1	0	0	0	0	1	0	0	0	4860	1000	35	4	1285	4	DYRK4	12	4721810	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	3019751	4721810	129130085	463	11160											
KCNA1	3736	broad.mit.edu	37	12	5020549	5020549	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:5020549C>T	ENST00000382545.3	+	2	1112	c.5C>T	c.(4-6)aCg>aTg	p.T2M	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	2					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TCCACCATGACGGTGATGTCT	0.741																																																0													12	15	14					12																	5020549		2129	4155	6284	SO:0001583	missense	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.5C>T	12.37:g.5020549C>T	ENSP00000371985:p.Thr2Met		A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882671	0.72410	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96619	-4.07	3.64	3.64	0.41730	.	0.107759	0.64402	D	0.000006	D	0.96636	0.8902	M	0.63843	1.955	0.80722	D	1	D	0.60160	0.987	P	0.55667	0.781	D	0.97108	0.9802	10	0.87932	D	0	.	14.8572	0.70347	0.0:1.0:0.0:0.0	.	2	Q09470	KCNA1_HUMAN	M	2	ENSP00000371985:T2M	ENSP00000228858:T2M	T	+	2	0	KCNA1	4890810	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.507000	0.81676	2.053000	0.61076	0.555000	0.69702	ACG		0.741	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		T	5020549	C	T	5020549	3	4	183	1	0	0	0	0	1	0	0	0	8003	536	19	1	7	1	KCNA1	12	5020549	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	298739	5020549	128831346	464	11161											
KCNA5	3741	broad.mit.edu	37	12	5155012	5155012	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:5155012delG	ENST00000252321.3	+	1	1928	c.1699delG	c.(1699-1701)gggfs	p.G568fs		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	568					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CTGCAAGGCTGGGGGGACCCT	0.632																																																0													32	36	35					12																	5155012		2203	4300	6503	SO:0001589	frameshift_variant	3741			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1699delG	12.37:g.5155012delG	ENSP00000252321:p.Gly568fs		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Frame_Shift_Del	DEL	ENST00000252321.3	37	CCDS8536.1																																																																																				0.632	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		-	5155012	G	-	5155012	7	5	183	1	0	1	0	1	0	0	0	0	8008	1348	47	0	1701	0	KCNA5	12	5155012	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	134463	5155012	128696883	465	11162											
VWF	7450	broad.mit.edu	37	12	6076653	6076653	+	Splice_Site	SNP	A	A	G	rs112100565		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:6076653A>G	ENST00000261405.5	-	47	8140	c.7886T>C	c.(7885-7887)cTg>cCg	p.L2629P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2629	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTCTTACCAGGGGGCAGGG	0.572																																																0													105	101	102					12																	6076653		2203	4300	6503	SO:0001630	splice_region_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7887+1T>C	12.37:g.6076653A>G			Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.600232	0.28534	.	.	ENSG00000110799	ENST00000261405	T	0.65178	-0.14	5.04	-8.41	0.00961	von Willebrand factor, type C (4);	1.473130	0.04959	N	0.461631	T	0.46927	0.1418	L	0.60455	1.87	0.46113	D	0.998876	B	0.02656	0.0	B	0.06405	0.002	T	0.30387	-0.9980	10	0.30854	T	0.27	.	1.3328	0.02138	0.2006:0.1155:0.3162:0.3676	.	2629	P04275	VWF_HUMAN	P	2629	ENSP00000261405:L2629P	ENSP00000261405:L2629P	L	-	2	0	VWF	5946914	0.000000	0.05858	0.002000	0.10522	0.265000	0.26407	-2.608000	0.00887	-1.289000	0.02375	0.459000	0.35465	CTG		0.572	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Missense_Mutation	G	6076653	A	G	6076653	5	3	183	1	0	0	0	0	0	0	1	0	17251	202	7	3	579	3	VWF	12	6076653	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	921641	6076653	127775242	466	11163											
VWF	7450	broad.mit.edu	37	12	6122671	6122671	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:6122671A>G	ENST00000261405.5	-	32	5850	c.5596T>C	c.(5596-5598)Tcc>Ccc	p.S1866P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1866	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGAGGAAGGAATTGCCCAAG	0.483																																																0													95	99	98					12																	6122671		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5596T>C	12.37:g.6122671A>G	ENSP00000261405:p.Ser1866Pro		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	13.34	2.208187	0.39003	.	.	ENSG00000110799	ENST00000261405	T	0.78246	-1.16	5.21	2.72	0.32119	von Willebrand factor, type A (1);	0.180503	0.27289	N	0.020053	T	0.75133	0.3808	M	0.76002	2.32	0.09310	N	1	P	0.49961	0.93	P	0.44860	0.462	T	0.68754	-0.5325	10	0.52906	T	0.07	.	6.9189	0.24376	0.5938:0.2858:0.0:0.1204	.	1866	P04275	VWF_HUMAN	P	1866	ENSP00000261405:S1866P	ENSP00000261405:S1866P	S	-	1	0	VWF	5992932	0.758000	0.28405	0.576000	0.28549	0.822000	0.46500	1.356000	0.34079	1.971000	0.57363	0.528000	0.53228	TCC		0.483	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		G	6122671	A	G	6122671	3	3	183	1	0	0	0	0	1	0	0	0	17251	246	9	3	2929	3	VWF	12	6122671	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	46018	6122671	127729224	467	11164											
CHD4	1108	broad.mit.edu	37	12	6710842	6710842	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:6710842T>C	ENST00000357008.2	-	5	692	c.529A>G	c.(529-531)Aac>Gac	p.N177D	CHD4_ENST00000544040.1_Missense_Mutation_p.N170D|CHD4_ENST00000309577.6_Missense_Mutation_p.N177D|CHD4_ENST00000544484.1_Missense_Mutation_p.N174D	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	177					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GCCTTGTAGTTGGTGAGGGTT	0.478																																					Colon(32;586 792 4568 16848 45314)											0													271	277	275					12																	6710842		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.529A>G	12.37:g.6710842T>C	ENSP00000349508:p.Asn177Asp		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700766	0.68501	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.91068	-2.75;-2.78;-2.74;-2.77;0.5	5.87	5.87	0.94306	CHD, N-terminal (1);	0.114948	0.56097	D	0.000034	D	0.94778	0.8314	M	0.72894	2.215	0.58432	D	0.999999	P;D;D	0.67145	0.701;0.962;0.996	B;P;D	0.76071	0.275;0.847;0.987	D	0.95149	0.8271	10	0.72032	D	0.01	3.09	15.9452	0.79787	0.0:0.0:0.0:1.0	.	177;177;170	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	D	174;170;177;177;151;177	ENSP00000440392:N174D;ENSP00000440542:N170D;ENSP00000312419:N177D;ENSP00000349508:N177D;ENSP00000437506:N177D	ENSP00000312419:N177D	N	-	1	0	CHD4	6581103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.239000	0.73571	0.528000	0.53228	AAC		0.478	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		C	6710842	T	C	6710842	3	2	183	1	0	0	0	0	1	0	0	0	3329	1812	63	3	5353	3	CHD4	12	6710842	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	588171	6710842	127141053	468	11165											
CD4	920	broad.mit.edu	37	12	6924067	6924067	+	Silent	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:6924067T>A	ENST00000011653.4	+	5	774	c.516T>A	c.(514-516)tcT>tcA	p.S172S	CD4_ENST00000541982.1_Silent_p.S117S|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	172	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TCTCCGTGTCTCAGCTGGAGC	0.542																																																0													88	77	80					12																	6924067		2203	4300	6503	SO:0001819	synonymous_variant	920			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	protein-coding gene	gene with protein product		186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.516T>A	12.37:g.6924067T>A			B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	ENST00000011653.4	37	CCDS8562.1																																																																																				0.542	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		A	6924067	T	A	6924067	2	1	183	1	0	0	0	0	0	0	0	1	3016	1538	54	5		5	CD4	12	6924067	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	213225	6924067	126927828	469	11166											
PRB4	5545	broad.mit.edu	37	12	11461543	11461543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:11461543delG	ENST00000535904.1	-	3	407	c.374delC	c.(373-375)ccafs	p.P125fs	PRB4_ENST00000279575.1_Frame_Shift_Del_p.P125fs|PRB4_ENST00000445719.2_Intron			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	146	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCCTCCTTGTGGGGGTGGTCT	0.607										HNSCC(22;0.051)																																						0													154	172	166					12																	11461543		2203	4300	6503	SO:0001589	frameshift_variant	5545				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.374delC	12.37:g.11461543delG	ENSP00000442834:p.Pro125fs		A1L439|O00600|P02813|P10161|P10162|P81489	Frame_Shift_Del	DEL	ENST00000535904.1	37	CCDS8641.1																																																																																				0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		-	11461543	G	-	11461543	7	5	183	1	0	1	0	1	0	0	0	0	12450	1348	47	0	373	0	PRB4	12	11461543	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	4537476	11461543	122390352	470	11167											
ATF7IP	55729	broad.mit.edu	37	12	14628904	14628904	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:14628904T>C	ENST00000540793.1	+	10	3096		c.e10+2		ATF7IP_ENST00000544627.1_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTTCACAAGGTACTTCAATAG	0.363																																																0													136	129	131					12																	14628904		2203	4300	6503	SO:0001630	splice_region_variant	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2941+2T>C	12.37:g.14628904T>C			F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Splice_Site	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802573	0.50315	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6965	0.69126	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATF7IP	14520171	1.000000	0.71417	0.999000	0.59377	0.457000	0.32468	5.045000	0.64220	2.205000	0.71048	0.477000	0.44152	.		0.363	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	Intron	C	14628904	T	C	14628904	5	2	183	1	0	0	0	0	0	0	1	0	1087	1652	57	3	2981	3	ATF7IP	12	14628904	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	3167361	14628904	119222991	471	11168											
GUCY2C	2984	broad.mit.edu	37	12	14781652	14781652	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:14781652delT	ENST00000261170.3	-	20	2313	c.2177delA	c.(2176-2178)aacfs	p.N726fs		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CTCCCAACAGTTTTTTACAAG	0.343																																																0													108	117	114					12																	14781652		2203	4300	6503	SO:0001589	frameshift_variant	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2177delA	12.37:g.14781652delT	ENSP00000261170:p.Asn726fs		B2RMY6	Frame_Shift_Del	DEL	ENST00000261170.3	37	CCDS8664.1																																																																																				0.343	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			-	14781652	T	-	14781652	7	5	183	1	0	1	0	1	0	0	0	0	6898	1725	60	0	1076	0	GUCY2C	12	14781652	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	152748	14781652	119070243	472	11169											
STK38L	23012	broad.mit.edu	37	12	27461270	27461270	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:27461270A>G	ENST00000389032.3	+	4	355		c.e4-1		STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TTTTTTTAATAGAAAAAGTTA	0.338																																																0													44	49	47					12																	27461270		2203	4300	6503	SO:0001630	splice_region_variant	23012			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"nuclear Dbf2-related 2"	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.187-1A>G	12.37:g.27461270A>G				Splice_Site	SNP	ENST00000389032.3	37	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759361	0.69763	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000540996;ENST00000543246;ENST00000544969	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8778	0.63665	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK38L	27352537	1.000000	0.71417	0.991000	0.47740	0.899000	0.52679	8.890000	0.92477	1.832000	0.53329	0.377000	0.23210	.		0.338	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000	Intron	G	27461270	A	G	27461270	5	3	183	1	0	0	0	0	0	0	1	0	15309	434	15	3	195	3	STK38L	12	27461270	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	12679618	27461270	106390625	473	11170											
CCDC91	55297	broad.mit.edu	37	12	28460651	28460651	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:28460651T>C	ENST00000545336.1	+	9	964	c.545T>C	c.(544-546)aTt>aCt	p.I182T	CCDC91_ENST00000381256.1_Missense_Mutation_p.I182T|CCDC91_ENST00000539107.1_Missense_Mutation_p.I182T|CCDC91_ENST00000306172.5_Missense_Mutation_p.I152T|CCDC91_ENST00000381259.1_Missense_Mutation_p.I182T|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	182					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAAGAGGCCATTTCTTTTCAA	0.303																																																0													61	64	63					12																	28460651		2202	4292	6494	SO:0001583	missense	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.545T>C	12.37:g.28460651T>C	ENSP00000438040:p.Ile182Thr		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625359	0.46840	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.39229	1.09;1.36;1.36;1.36;1.36;1.09;1.34	5.32	5.32	0.75619	.	0.674836	0.13532	N	0.380830	T	0.26268	0.0641	N	0.08118	0	0.24200	N	0.995511	B;B;B	0.22414	0.02;0.069;0.069	B;B;B	0.21360	0.015;0.022;0.034	T	0.19451	-1.0305	10	0.66056	D	0.02	-4.6951	11.9355	0.52870	0.0:0.0:0.0:1.0	.	182;182;152	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2	.;CCD91_HUMAN;.	T	182;182;182;182;182;182;152	ENSP00000440513:I182T;ENSP00000445660:I182T;ENSP00000438040:I182T;ENSP00000442544:I182T;ENSP00000370658:I182T;ENSP00000370655:I182T;ENSP00000305075:I152T	ENSP00000305075:I152T	I	+	2	0	CCDC91	28351918	0.993000	0.37304	1.000000	0.80357	0.990000	0.78478	4.325000	0.59234	2.127000	0.65507	0.477000	0.44152	ATT		0.303	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		C	28460651	T	C	28460651	3	2	183	1	0	0	0	0	1	0	0	0	2872	1493	52	3	563	3	CCDC91	12	28460651	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	999381	28460651	105391244	474	11171											
TMTC1	83857	broad.mit.edu	37	12	29920872	29920872	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:29920872T>C	ENST00000539277.1	-	2	497	c.439A>G	c.(439-441)Acg>Gcg	p.T147A	TMTC1_ENST00000381224.2_Missense_Mutation_p.T39A|TMTC1_ENST00000551659.1_Missense_Mutation_p.T147A|TMTC1_ENST00000256062.5_Missense_Mutation_p.T39A|TMTC1_ENST00000552618.1_Missense_Mutation_p.T147A	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	147						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGCAATGCCGTTACAAAAGCA	0.368																																																0													142	120	127					12																	29920872		2203	4300	6503	SO:0001583	missense	83857				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.439A>G	12.37:g.29920872T>C	ENSP00000442046:p.Thr147Ala		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	T	2.657	-0.280649	0.05642	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;D;D;D;T	0.93859	0.42;-3.3;-3.3;-3.3;2.22	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	N	0.01751	-0.74	0.46396	D	0.999029	B;B	0.32051	0.354;0.145	B;B	0.31946	0.138;0.065	T	0.81059	-0.1104	9	.	.	.	-17.2453	12.9883	0.58604	0.0:0.0:0.0:1.0	.	39;147	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	A	39;147;147;147;39	ENSP00000256062:T39A;ENSP00000448112:T147A;ENSP00000449043:T147A;ENSP00000442046:T147A;ENSP00000370622:T39A	.	T	-	1	0	TMTC1	29812139	1.000000	0.71417	0.266000	0.24541	0.430000	0.31655	4.945000	0.63568	2.088000	0.63022	0.533000	0.62120	ACG		0.368	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		C	29920872	T	C	29920872	3	2	183	1	0	0	0	0	1	0	0	0	16265	1725	60	3	2277	3	TMTC1	12	29920872	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1460221	29920872	103931023	475	11172											
ADAMTS20	80070	broad.mit.edu	37	12	43826136	43826136	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:43826136G>A	ENST00000389420.3	-	21	3066	c.3067C>T	c.(3067-3069)Ccc>Tcc	p.P1023S	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P177S|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1023S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1023	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCCCAACTGGGACAGGAAAAT	0.383																																																0													116	108	111					12																	43826136		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3067C>T	12.37:g.43826136G>A	ENSP00000374071:p.Pro1023Ser		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386616	0.82902	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.04	4.13	0.48395	.	0.119937	0.37623	N	0.002018	T	0.76622	0.4013	M	0.87900	2.915	0.58432	D	0.999997	D;D	0.60160	0.987;0.985	P;P	0.62813	0.907;0.685	T	0.82004	-0.0672	10	0.72032	D	0.01	.	14.5124	0.67797	0.0727:0.0:0.9273:0.0	.	1023;177	P59510;E9PBD5	ATS20_HUMAN;.	S	1023;189;177;1023;1023	ENSP00000374071:P1023S;ENSP00000447427:P189S;ENSP00000378911:P177S;ENSP00000448341:P1023S	ENSP00000374068:P1023S	P	-	1	0	ADAMTS20	42112403	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	7.451000	0.80668	1.401000	0.46761	0.655000	0.94253	CCC		0.383	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43826136	G	A	43826136	3	1	183	1	0	0	0	0	1	0	0	0	266	1174	41	2	2740	2	ADAMTS20	12	43826136	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	13905264	43826136	90025759	476	11173											
MCRS1	10445	broad.mit.edu	37	12	49953240	49953240	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:49953240C>T	ENST00000550165.1	-	13	1348	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.R170H|MCRS1_ENST00000357123.4_Missense_Mutation_p.R374H|MCRS1_ENST00000343810.4_Missense_Mutation_p.R361H			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	361					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CCTCACCTCACGCGAGCGCAT	0.602																																																0													67	67	67					12																	49953240		2203	4300	6503	SO:0001583	missense	10445			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"INO80 complex subunits"	6960	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.1082G>A	12.37:g.49953240C>T	ENSP00000448056:p.Arg361His		O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	ENST00000550165.1	37	CCDS8787.1	.	.	.	.	.	.	.	.	.	.	C	37	5.980823	0.97168	.	.	ENSG00000187778	ENST00000551598;ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	5.54	5.54	0.83059	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	L	0.51422	1.61	0.49051	D	0.999746	D;D	0.89917	0.999;1.0	P;D	0.68353	0.899;0.957	D	0.93754	0.7061	10	0.66056	D	0.02	-5.6074	17.3382	0.87288	0.0:1.0:0.0:0.0	.	361;374	Q96EZ8;Q96EZ8-2	MCRS1_HUMAN;.	H	70;170;361;361;374	ENSP00000448947:R70H;ENSP00000444982:R170H;ENSP00000345358:R361H;ENSP00000448056:R361H;ENSP00000349640:R374H	ENSP00000345358:R361H	R	-	2	0	MCRS1	48239507	0.829000	0.29322	0.011000	0.14972	0.518000	0.34316	5.652000	0.67959	2.764000	0.94973	0.650000	0.86243	CGT		0.602	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		T	49953240	C	T	49953240	3	4	183	1	0	0	0	0	1	0	0	0	9401	536	19	1	322	1	MCRS1	12	49953240	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	6127104	49953240	83898655	477	11174											
PRPF40B	25766	broad.mit.edu	37	12	50031329	50031329	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:50031329G>T	ENST00000380281.1	+	16	1635	c.1571G>T	c.(1570-1572)aGc>aTc	p.S524I	PRPF40B_ENST00000261897.1_Missense_Mutation_p.S518I|PRPF40B_ENST00000548825.2_Missense_Mutation_p.S546I|FMNL3_ENST00000550668.1_5'Flank			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	524	FF 4.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAGCAGTCAGCACTGATGTC	0.607											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													96	75	82					12																	50031329		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1571G>T	12.37:g.50031329G>T	ENSP00000369634:p.Ser524Ile	966	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	G	26.0	4.697105	0.88830	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.32023	1.47;1.47	4.62	4.62	0.57501	FF domain (3);	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	M	0.84511	2.7	0.80722	D	1	D;P;D	0.62365	0.974;0.93;0.991	D;P;D	0.69654	0.931;0.848;0.965	T	0.64580	-0.6374	9	.	.	.	-16.2275	16.7574	0.85503	0.0:0.0:1.0:0.0	.	524;518;524	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	I	518;524	ENSP00000261897:S518I;ENSP00000369634:S524I	.	S	+	2	0	PRPF40B	48317596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.406000	0.97321	2.578000	0.87016	0.655000	0.94253	AGC		0.607	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		T	50031329	G	T	50031329	3	4	183	1	0	0	0	0	1	0	0	0	12577	971	34	4	1633	4	PRPF40B	12	50031329	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	78089	50031329	83820566	478	11175											
KRT2	3849	broad.mit.edu	37	12	53045390	53045390	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:53045390A>G	ENST00000309680.3	-	1	558	c.537T>C	c.(535-537)cgT>cgC	p.R179R		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	179	Coil 1A.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGATCTGCTCACGCTCTTGGG	0.522																																																0													151	142	145					12																	53045390		2203	4300	6503	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.537T>C	12.37:g.53045390A>G			Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																				0.522	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		G	53045390	A	G	53045390	2	3	183	1	0	0	0	0	0	0	0	1	8459	146	6	3		3	KRT2	12	53045390	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3014061	53045390	80806505	479	11176											
KRT4	3851	broad.mit.edu	37	12	53202484	53202484	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:53202484G>T	ENST00000551956.1	-	5	1477	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	KRT4_ENST00000293774.4_Missense_Mutation_p.L403M|KRT4_ENST00000458244.2_Missense_Mutation_p.L309M			P19013	K2C4_HUMAN	keratin 4	343	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTCTGGTACAGGGCTTCAGCC	0.562																																					Pancreas(190;284 2995 41444 45903)											0													83	79	80					12																	53202484		2203	4300	6503	SO:0001583	missense	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.985C>A	12.37:g.53202484G>T	ENSP00000448220:p.Leu329Met		F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453007	0.43531	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.89196	-2.48;-2.48;-2.48	5.75	-0.42	0.12336	Filament (1);	0.591571	0.13162	N	0.409004	D	0.82614	0.5075	N	0.20304	0.555	0.09310	N	0.999997	P	0.36712	0.566	B	0.42959	0.403	T	0.72950	-0.4136	10	0.49607	T	0.09	.	11.4439	0.50112	0.6322:0.0:0.3678:0.0	.	343	P19013	K2C4_HUMAN	M	329;403;309	ENSP00000448220:L329M;ENSP00000293774:L403M;ENSP00000387904:L309M	ENSP00000293774:L403M	L	-	1	2	KRT4	51488751	0.788000	0.28762	0.009000	0.14445	0.735000	0.41995	1.787000	0.38704	-0.268000	0.09312	0.655000	0.94253	CTG		0.562	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		T	53202484	G	T	53202484	3	4	183	1	0	0	0	0	1	0	0	0	8479	991	35	4	597	4	KRT4	12	53202484	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	157094	53202484	80649411	480	11177											
HOXC11	3227	broad.mit.edu	37	12	54367383	54367383	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:54367383T>A	ENST00000546378.1	+	1	474	c.358T>A	c.(358-360)Tcc>Acc	p.S120T	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.S120T			O43248	HXC11_HUMAN	homeobox C11	120					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						AAACGAAGGCTCCTACGGCGG	0.637			T	NUP98	AML																																		Dom	yes		12	12q13.3	3227	homeo box C11		L	0													90	110	103					12																	54367383		2203	4300	6503	SO:0001583	missense	3227				CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.358T>A	12.37:g.54367383T>A	ENSP00000446680:p.Ser120Thr		A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400372	0.25291	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.43294	0.95;0.95	4.31	4.31	0.51392	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.185987	0.47455	D	0.000225	T	0.23611	0.0571	N	0.17474	0.49	0.30475	N	0.772955	B	0.15473	0.013	B	0.22152	0.038	T	0.17410	-1.0370	10	0.11485	T	0.65	.	8.812	0.34974	0.0:0.0:0.318:0.682	.	120	O43248	HXC11_HUMAN	T	120	ENSP00000446680:S120T;ENSP00000243082:S120T	ENSP00000243082:S120T	S	+	1	0	HOXC11	52653650	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.423000	0.66458	1.933000	0.56026	0.454000	0.30748	TCC		0.637	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			A	54367383	T	A	54367383	3	1	183	1	0	0	0	0	1	0	0	0	7312	1551	54	5	360	5	HOXC11	12	54367383	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1164899	54367383	79484512	481	11178											
ERBB3	2065	broad.mit.edu	37	12	56479046	56479046	+	Intron	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:56479046C>T	ENST00000267101.3	+	3	861				ERBB3_ENST00000415288.2_Intron|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.L168F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3						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)			CCCAAGACTGCTCACTCTAAG	0.582																																																0													48	54	52					12																	56479046		1327	2309	3636	SO:0001627	intron_variant	2065			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.421+81C>T	12.37:g.56479046C>T			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146488	0.37923	.	.	ENSG00000065361	ENST00000411731	T	0.37584	1.19	3.22	-2.45	0.06481	.	.	.	.	.	T	0.17704	0.0425	.	.	.	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.24693	-1.0153	7	.	.	.	.	4.3865	0.11319	0.0:0.3435:0.174:0.4825	.	168	P21860-2	.	F	168	ENSP00000415753:L168F	.	L	+	1	0	ERBB3	54765313	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.853000	0.04303	-0.578000	0.05959	-1.199000	0.01669	CTC		0.582	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			T	56479046	C	T	56479046	1	4	183	0	1	0	0	0	0	0	0	0	5210	797	28	2		2	ERBB3	12	56479046	Intron	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2111663	56479046	77372849	482	11179											
SMARCC2	6601	broad.mit.edu	37	12	56566385	56566385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:56566385delT	ENST00000267064.4	-	18	1840	c.1754delA	c.(1753-1755)aagfs	p.K585fs	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.K616fs|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.K616fs|SMARCC2_ENST00000394023.3_Frame_Shift_Del_p.K616fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	585					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGAACATTCTTTTTTGTGTA	0.498																																																0													183	168	173					12																	56566385		2203	4300	6503	SO:0001589	frameshift_variant	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1754delA	12.37:g.56566385delT	ENSP00000267064:p.Lys585fs		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Del	DEL	ENST00000267064.4	37	CCDS8907.1																																																																																				0.498	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			-	56566385	T	-	56566385	7	5	183	1	0	1	0	1	0	0	0	0	14782	1609	56	0	1934	0	SMARCC2	12	56566385	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	87339	56566385	77285510	483	11180											
STAT6	6778	broad.mit.edu	37	12	57498535	57498535	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:57498535A>G	ENST00000300134.3	-	10	1388	c.1063T>C	c.(1063-1065)Tgc>Cgc	p.C355R	STAT6_ENST00000538913.2_Missense_Mutation_p.C245R|STAT6_ENST00000543873.2_Missense_Mutation_p.C355R|STAT6_ENST00000556155.1_Missense_Mutation_p.C355R|STAT6_ENST00000454075.3_Missense_Mutation_p.C355R|STAT6_ENST00000537215.2_Missense_Mutation_p.C245R	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	355					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCAGAGCAGCAGTTCCCAGGA	0.562																																																0													128	104	112					12																	57498535		2203	4300	6503	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1063T>C	12.37:g.57498535A>G	ENSP00000300134:p.Cys355Arg		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.22|15.22	2.769231|2.769231	0.49680|0.49680	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516|ENST00000553533	D;D;D;D;D;D|.	0.87256|.	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23|.	4.79|4.79	3.65|3.65	0.41850|0.41850	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);|.	0.290468|.	0.37437|.	N|.	0.002095|.	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.32530|0.32530	0.975|0.975	0.53688|0.53688	D|D	0.999977|0.999977	B;P|.	0.50819|.	0.145;0.939|.	B;P|.	0.44732|.	0.032;0.459|.	T|T	0.19192|0.19192	-1.0313|-1.0313	10|5	0.52906|.	T|.	0.07|.	-11.3715|-11.3715	3.9729|3.9729	0.09462|0.09462	0.7198:0.0:0.097:0.1832|0.7198:0.0:0.097:0.1832	.|.	355;355|.	A8K4S9;P42226|.	.;STAT6_HUMAN|.	R|P	355;245;245;355;355;245;355;245;355|55	ENSP00000300134:C355R;ENSP00000445409:C245R;ENSP00000438451:C355R;ENSP00000451742:C355R;ENSP00000444530:C245R;ENSP00000401486:C355R|.	ENSP00000300134:C355R|.	C|L	-|-	1|2	0|0	STAT6|STAT6	55784802|55784802	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.249000|2.249000	0.43169|0.43169	0.866000|0.866000	0.35629|0.35629	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.562	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		G	57498535	A	G	57498535	3	3	183	1	0	0	0	0	1	0	0	0	15275	188	7	3	1532	3	STAT6	12	57498535	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	932150	57498535	76353360	484	11181											
LRP1	4035	broad.mit.edu	37	12	57605026	57605026	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:57605026C>T	ENST00000243077.3	+	84	13450	c.12984C>T	c.(12982-12984)tgC>tgT	p.C4328C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4328	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCGACAATGCCGCTGCACTG	0.582																																																0													98	78	85					12																	57605026		2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12984C>T	12.37:g.57605026C>T			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57605026	C	T	57605026	2	4	183	1	0	0	0	0	0	0	0	1	8953	747	26	2		2	LRP1	12	57605026	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	106491	57605026	76246869	485	11182											
MARS	4141	broad.mit.edu	37	12	57894296	57894296	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:57894296C>T	ENST00000262027.5	+	10	1418	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.V194V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	428					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCAATGCTGTCGAGCTTAAGG	0.537																																																0													104	87	93					12																	57894296		2203	4300	6503	SO:0001819	synonymous_variant	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1284C>T	12.37:g.57894296C>T			B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	CCDS8942.1																																																																																				0.537	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		T	57894296	C	T	57894296	2	4	183	1	0	0	0	0	0	0	0	1	9318	871	31	1		1	MARS	12	57894296	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	289270	57894296	75957599	486	11183											
KIF5A	3798	broad.mit.edu	37	12	57976896	57976896	+	Silent	SNP	G	G	A	rs148434838		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:57976896G>A	ENST00000455537.2	+	28	3307	c.3033G>A	c.(3031-3033)ccG>ccA	p.P1011P	KIF5A_ENST00000286452.5_Silent_p.P922P	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	1011	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GTGACCTGCCGTGTGGCTATG	0.532											OREG0021947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		18858	0.001		0.0	False		,,,				2504	0.0															0								G		2,4404	4.2+/-10.8	0,2,2201	86	65	72		3033	-9.6	0.1	12	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF5A	NM_004984.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		1011/1033	57976896	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3798			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.3033G>A	12.37:g.57976896G>A		1027	A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	CCDS8945.1																																																																																				0.532	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		A	57976896	G	A	57976896	2	1	183	1	0	0	0	0	0	0	0	1	8307	1132	40	1		1	KIF5A	12	57976896	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	82600	57976896	75874999	487	11184											
DTX3	196403	broad.mit.edu	37	12	58000848	58000848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:58000848delC	ENST00000548198.1	+	3	1706	c.202delC	c.(202-204)cccfs	p.P69fs	DTX3_ENST00000551632.1_Frame_Shift_Del_p.P72fs|DTX3_ENST00000548804.1_Frame_Shift_Del_p.P69fs|DTX3_ENST00000337737.3_Frame_Shift_Del_p.P69fs			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	69					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACAGGGTCCTCCCCCGGCCCC	0.602																																																0													83	90	88					12																	58000848		1864	4089	5953	SO:0001589	frameshift_variant	196403			AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"RING-type (C3HC4) zinc fingers"	24457	protein-coding gene	gene with protein product		613142	"deltex 3 homolog (Drosophila)", "deltex homolog 3 (Drosophila)"			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.202delC	12.37:g.58000848delC	ENSP00000447873:p.Pro69fs		Q53ZZ2|Q8NAU6|Q8NDS8	Frame_Shift_Del	DEL	ENST00000548198.1	37	CCDS41800.1																																																																																				0.602	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		-	58000848	C	-	58000848	7	5	183	1	0	1	0	1	0	0	0	0	4797	855	30	0	208	0	DTX3	12	58000848	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	23952	58000848	75851047	488	11185											
DTX3	196403	broad.mit.edu	37	12	58001073	58001073	+	Frame_Shift_Del	DEL	C	C	-	rs368321146		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:58001073delC	ENST00000548198.1	+	3	1931	c.427delC	c.(427-429)cccfs	p.P144fs	DTX3_ENST00000551632.1_Frame_Shift_Del_p.P147fs|DTX3_ENST00000548804.1_Frame_Shift_Del_p.P144fs|DTX3_ENST00000337737.3_Frame_Shift_Del_p.P144fs|ARHGEF25_ENST00000333972.7_5'Flank			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	144	Pro-rich.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ccctcctcctccccccctgcc	0.697																																																0													5	6	6					12																	58001073		1714	3884	5598	SO:0001589	frameshift_variant	196403			AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"RING-type (C3HC4) zinc fingers"	24457	protein-coding gene	gene with protein product		613142	"deltex 3 homolog (Drosophila)", "deltex homolog 3 (Drosophila)"			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.427delC	12.37:g.58001073delC	ENSP00000447873:p.Pro144fs		Q53ZZ2|Q8NAU6|Q8NDS8	Frame_Shift_Del	DEL	ENST00000548198.1	37	CCDS41800.1																																																																																				0.697	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		-	58001073	C	-	58001073	7	5	183	1	0	1	0	1	0	0	0	0	4797	855	30	0	433	0	DTX3	12	58001073	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	225	58001073	75850822	489	11186											
LRIG3	121227	broad.mit.edu	37	12	59274640	59274640	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:59274640C>T	ENST00000320743.3	-	13	1810	c.1524G>A	c.(1522-1524)caG>caA	p.Q508Q	LRIG3_ENST00000379141.4_Silent_p.Q448Q	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	508	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTATTGCCGACTGTGTTTCTG	0.428			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													183	188	186					12																	59274640		2203	4300	6503	SO:0001819	synonymous_variant	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1524G>A	12.37:g.59274640C>T			Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	CCDS8960.1																																																																																				0.428	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		T	59274640	C	T	59274640	2	4	183	1	0	0	0	0	0	0	0	1	8948	564	20	2		2	LRIG3	12	59274640	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1273567	59274640	74577255	490	11187											
XPOT	11260	broad.mit.edu	37	12	64812734	64812734	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:64812734T>C	ENST00000332707.5	+	6	878	c.349T>C	c.(349-351)Tat>Cat	p.Y117H		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	117	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGTTACAGAGTATCTCACTAA	0.438																																																0													114	108	110					12																	64812734		2203	4300	6503	SO:0001583	missense	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.349T>C	12.37:g.64812734T>C	ENSP00000327821:p.Tyr117His		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522541	0.85600	.	.	ENSG00000184575	ENST00000332707;ENST00000400935	T;T	0.54279	0.58;0.58	4.78	4.78	0.61160	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.063176	0.64402	D	0.000004	T	0.76478	0.3993	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.82032	-0.0658	9	.	.	.	.	14.633	0.68671	0.0:0.0:0.0:1.0	.	117	O43592	XPOT_HUMAN	H	117	ENSP00000327821:Y117H;ENSP00000383722:Y117H	.	Y	+	1	0	XPOT	63099001	1.000000	0.71417	0.984000	0.44739	0.894000	0.52154	7.975000	0.88055	1.918000	0.55548	0.455000	0.32223	TAT		0.438	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		C	64812734	T	C	64812734	3	2	183	1	0	0	0	0	1	0	0	0	17455	1638	57	3	367	3	XPOT	12	64812734	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	5538094	64812734	69039161	491	11188											
MSRB3	253827	broad.mit.edu	37	12	65857074	65857074	+	Missense_Mutation	SNP	C	C	T	rs144038296	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:65857074C>T	ENST00000355192.3	+	6	677	c.551C>T	c.(550-552)cCg>cTg	p.P184L	MSRB3_ENST00000308259.5_Missense_Mutation_p.P177L|MSRB3_ENST00000535664.1_Missense_Mutation_p.P177L	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	184					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GTCGCCAGCCCGGCCCAGGCA	0.483																																																0								C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	4,4402	8.1+/-20.4	0,4,2199	54	51	52		530,530,530,551	4.6	0.6	12	dbSNP_134	52	0,8600		0,0,4300	yes	missense,missense,missense,missense	MSRB3	NM_001031679.2,NM_001193460.1,NM_001193461.1,NM_198080.3	98,98,98,98	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign,benign	177/186,177/186,177/186,184/193	65857074	4,13002	2203	4300	6503	SO:0001583	missense	253827			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"deafness, autosomal recessive 74"	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.551C>T	12.37:g.65857074C>T	ENSP00000347324:p.Pro184Leu		B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210388	0.39003	9.08E-4	0.0	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664	T;T;T	0.64085	-0.08;-0.07;-0.07	5.52	4.62	0.57501	.	0.690842	0.15040	N	0.283930	T	0.33498	0.0865	N	0.04260	-0.245	0.58432	D	0.999995	P;P	0.48640	0.913;0.683	B;B	0.31191	0.125;0.084	T	0.22138	-1.0225	9	.	.	.	-6.0314	14.4155	0.67148	0.1478:0.8521:0.0:0.0	.	184;177	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	L	184;177;177	ENSP00000347324:P184L;ENSP00000312274:P177L;ENSP00000441650:P177L	.	P	+	2	0	MSRB3	64143341	0.921000	0.31238	0.568000	0.28447	0.082000	0.17680	2.435000	0.44811	1.471000	0.48121	0.655000	0.94253	CCG		0.483	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		T	65857074	C	T	65857074	3	4	183	1	0	0	0	0	1	0	0	0	9891	652	23	1	653	1	MSRB3	12	65857074	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1044340	65857074	67994821	492	11189											
KRR1	11103	broad.mit.edu	37	12	75900592	75900592	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:75900592T>G	ENST00000229214.4	-	3	386	c.363A>C	c.(361-363)aaA>aaC	p.K121N	KRR1_ENST00000438169.2_Missense_Mutation_p.K121N	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	121					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTGCTAACAGTTTTATCAGAT	0.383																																																0													127	121	123					12																	75900592		2203	4300	6503	SO:0001583	missense	11103			U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.363A>C	12.37:g.75900592T>G	ENSP00000229214:p.Lys121Asn		A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548610	0.65311	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.43294	0.95;0.95	5.49	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.93420	3.415	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.969	D;D;D	0.91635	0.999;0.997;0.912	T	0.72609	-0.4241	10	0.87932	D	0	-0.1244	8.1989	0.31413	0.0:0.2974:0.0:0.7026	.	121;121;121	B4DMS5;E7EUQ0;Q13601	.;.;KRR1_HUMAN	N	121	ENSP00000229214:K121N;ENSP00000411740:K121N	ENSP00000229214:K121N	K	-	3	2	KRR1	74186859	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	0.303000	0.19210	1.037000	0.40024	0.533000	0.62120	AAA		0.383	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		G	75900592	T	G	75900592	3	3	183	1	0	0	0	0	1	0	0	0	8448	1722	60	5	814	5	KRR1	12	75900592	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	10043518	75900592	57951303	493	11190											
CSRP2	1466	broad.mit.edu	37	12	77257107	77257107	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:77257107A>G	ENST00000311083.5	-	3	253	c.130T>C	c.(130-132)Tta>Cta	p.L44L	CSRP2_ENST00000547435.1_Silent_p.L44L|CSRP2_ENST00000552330.1_Silent_p.L44L|CSRP2_ENST00000546966.1_Silent_p.L44L	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	44	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						GTGCTATCTAAATTTTTCCTG	0.453																																																0													69	63	65					12																	77257107		2203	4300	6503	SO:0001819	synonymous_variant	1466			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.130T>C	12.37:g.77257107A>G			Q93030	Silent	SNP	ENST00000311083.5	37	CCDS9015.1																																																																																				0.453	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406572.1	NM_001321		G	77257107	A	G	77257107	2	3	183	1	0	0	0	0	0	0	0	1	3969	11	1	3		3	CSRP2	12	77257107	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1356515	77257107	56594788	494	11191											
C12orf64	283310	broad.mit.edu	37	12	80660299	80660299	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:80660299C>A	ENST00000547103.1	+	20	2272	c.2266C>A	c.(2266-2268)Ctc>Atc	p.L756I	OTOGL_ENST00000458043.2_Missense_Mutation_p.L756I			Q3ZCN5	OTOGL_HUMAN	otogelin-like	756	TIL 2.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGCATTTCTCTCTCTTCCCC	0.468																																																0													108	106	107					12																	80660299		2092	4227	6319	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2266C>A	12.37:g.80660299C>A	ENSP00000447211:p.Leu756Ile		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.011538	0.75046	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.56444	0.46;0.46	5.78	5.78	0.91487	.	.	.	.	.	T	0.71178	0.3309	M	0.70903	2.155	0.53005	D	0.999965	.	.	.	.	.	.	T	0.72184	-0.4367	7	0.66056	D	0.02	.	19.9987	0.97401	0.0:1.0:0.0:0.0	.	.	.	.	I	756	ENSP00000447211:L756I;ENSP00000400895:L756I	ENSP00000400895:L756I	L	+	1	0	OTOGL	79184430	0.870000	0.30015	0.866000	0.34008	0.515000	0.34225	1.580000	0.36547	2.738000	0.93877	0.591000	0.81541	CTC		0.468	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		A	80660299	C	A	80660299	3	1	183	1	0	0	0	0	1	0	0	0	1709	913	32	4	2344	4	C12orf64	12	80660299	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3403192	80660299	53191596	495	11192											
TMTC2	160335	broad.mit.edu	37	12	83444732	83444732	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:83444732delA	ENST00000321196.3	+	10	2909	c.2202delA	c.(2200-2202)gcafs	p.A734fs	TMTC2_ENST00000549919.1_Frame_Shift_Del_p.A728fs	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	734					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTGAGATGGCAAAAAAAGCAG	0.433																																																0													111	103	106					12																	83444732		2203	4300	6503	SO:0001589	frameshift_variant	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2202delA	12.37:g.83444732delA	ENSP00000322300:p.Ala734fs		B2RCU7|Q8N2K8	Frame_Shift_Del	DEL	ENST00000321196.3	37	CCDS9025.1																																																																																				0.433	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		-	83444732	A	-	83444732	7	5	183	1	0	1	0	1	0	0	0	0	16266	117	5	0	2240	0	TMTC2	12	83444732	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	2784433	83444732	50407163	496	11193											
LRRIQ1	84125	broad.mit.edu	37	12	85521681	85521681	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:85521681G>T	ENST00000393217.2	+	18	4140	c.4079G>T	c.(4078-4080)aGg>aTg	p.R1360M		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1360	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTCTCCACAAGGCTACATACT	0.398																																																0													143	143	143					12																	85521681		1876	4123	5999	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4079G>T	12.37:g.85521681G>T	ENSP00000376910:p.Arg1360Met		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969444	0.34754	.	.	ENSG00000133640	ENST00000393217	T	0.55930	0.49	4.94	-6.13	0.02118	.	.	.	.	.	T	0.31327	0.0793	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	P	0.46975	0.533	T	0.40831	-0.9542	9	0.62326	D	0.03	.	7.6262	0.28214	0.4009:0.0:0.5008:0.0983	.	1360	Q96JM4	LRIQ1_HUMAN	M	1360	ENSP00000376910:R1360M	ENSP00000376910:R1360M	R	+	2	0	LRRIQ1	84045812	0.001000	0.12720	0.000000	0.03702	0.342000	0.28953	0.325000	0.19628	-1.094000	0.03054	0.591000	0.81541	AGG		0.398	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		T	85521681	G	T	85521681	3	4	183	1	0	0	0	0	1	0	0	0	9031	1000	35	4	4149	4	LRRIQ1	12	85521681	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2076949	85521681	48330214	497	11194											
TMCC3	57458	broad.mit.edu	37	12	94975436	94975436	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:94975436A>G	ENST00000261226.4	-	2	1088	c.957T>C	c.(955-957)taT>taC	p.Y319Y	TMCC3_ENST00000551457.1_Silent_p.Y288Y	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	319						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						AAATAAAACCATATTCTCTCT	0.393																																																0													59	60	59					12																	94975436		2203	4300	6503	SO:0001819	synonymous_variant	57458			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.957T>C	12.37:g.94975436A>G			Q8IWB2	Silent	SNP	ENST00000261226.4	37	CCDS31877.1																																																																																				0.393	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		G	94975436	A	G	94975436	2	3	183	1	0	0	0	0	0	0	0	1	15999	224	8	3		3	TMCC3	12	94975436	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	9453755	94975436	38876459	498	11195											
APAF1	317	broad.mit.edu	37	12	99100325	99100325	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:99100325T>C	ENST00000551964.1	+	19	3394	c.2658T>C	c.(2656-2658)caT>caC	p.H886H	APAF1_ENST00000357310.1_Silent_p.H843H|APAF1_ENST00000359972.2_Silent_p.H832H|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Silent_p.H843H|APAF1_ENST00000549007.1_Silent_p.H843H|APAF1_ENST00000550527.1_Silent_p.H875H|APAF1_ENST00000547045.1_Silent_p.H843H	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	886					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTTGGGTTCATGGTGTGATGT	0.373																																																0													292	235	254					12																	99100325		2203	4300	6503	SO:0001819	synonymous_variant	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2658T>C	12.37:g.99100325T>C			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	CCDS9069.1																																																																																				0.373	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		C	99100325	T	C	99100325	2	2	183	1	0	0	0	0	0	0	0	1	755	1461	51	3		3	APAF1	12	99100325	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	4124889	99100325	34751570	499	11196											
UHRF1BP1L	23074	broad.mit.edu	37	12	100502181	100502181	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:100502181T>C	ENST00000279907.7	-	2	402	c.190A>G	c.(190-192)Aat>Gat	p.N64D	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.N64D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	64										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GACGCTTTATTACAAAAAACT	0.363																																																0													106	99	102					12																	100502181		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.190A>G	12.37:g.100502181T>C	ENSP00000279907:p.Asn64Asp		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665230	0.88251	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	D;D	0.82081	-1.57;-1.57	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	L	0.53780	1.695	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.987;1.0	D	0.89738	0.3931	10	0.66056	D	0.02	-22.6711	14.7243	0.69332	0.0:0.0:0.0:1.0	.	64;64	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	D	64	ENSP00000279907:N64D;ENSP00000349285:N64D	ENSP00000279907:N64D	N	-	1	0	UHRF1BP1L	99026312	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.946000	0.87746	1.893000	0.54813	0.482000	0.46254	AAT		0.363	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		C	100502181	T	C	100502181	3	2	183	1	0	0	0	0	1	0	0	0	16974	1754	61	3	4308	3	UHRF1BP1L	12	100502181	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1401856	100502181	33349714	500	11197											
NR1H4	9971	broad.mit.edu	37	12	100957204	100957204	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:100957204G>A	ENST00000551379.1	+	9	1426	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	NR1H4_ENST00000548884.1_Missense_Mutation_p.M452I|NR1H4_ENST00000392986.3_Missense_Mutation_p.M456I|NR1H4_ENST00000549996.1_Missense_Mutation_p.M405I|NR1H4_ENST00000188403.7_Missense_Mutation_p.M462I			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	466	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	AGATGCTGATGTCATGGAGAG	0.493																																																0													132	121	125					12																	100957204		2203	4300	6503	SO:0001583	missense	9971			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1398G>A	12.37:g.100957204G>A	ENSP00000447149:p.Met466Ile		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384080	0.25031	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.59	5.59	0.84812	Nuclear hormone receptor, ligand-binding (2);	0.192391	0.64402	D	0.000003	D	0.88735	0.6517	N	0.11106	0.095	0.50813	D	0.999894	B;B;B;B;B	0.33964	0.38;0.008;0.38;0.434;0.003	B;B;B;B;B	0.36289	0.153;0.016;0.153;0.221;0.009	D	0.86098	0.1554	10	0.12430	T	0.62	.	19.96	0.97242	0.0:0.0:1.0:0.0	.	405;466;462;456;452	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	I	452;456;405;466;462	ENSP00000448506:M452I;ENSP00000376712:M456I;ENSP00000448978:M405I;ENSP00000447149:M466I;ENSP00000188403:M462I	ENSP00000188403:M462I	M	+	3	0	NR1H4	99481335	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.462000	0.60121	2.793000	0.96121	0.561000	0.74099	ATG		0.493	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		A	100957204	G	A	100957204	3	1	183	1	0	0	0	0	1	0	0	0	10621	1377	48	2	1390	2	NR1H4	12	100957204	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	455023	100957204	32894691	501	11198											
SELPLG	6404	broad.mit.edu	37	12	109017315	109017315	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:109017315C>G	ENST00000550948.1	-	2	993	c.769G>C	c.(769-771)Gca>Cca	p.A257P	SELPLG_ENST00000388962.3_Missense_Mutation_p.A247P|SELPLG_ENST00000228463.6_Missense_Mutation_p.A273P			Q14242	SELPL_HUMAN	selectin P ligand	257	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TCCATGGCTGCCAGTGGAGTG	0.582																																																0													134	114	121					12																	109017315		2203	4300	6503	SO:0001583	missense	6404				CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.769G>C	12.37:g.109017315C>G	ENSP00000447752:p.Ala257Pro		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	C	11.76	1.736025	0.30774	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.32272	1.46;1.46;1.46	3.29	-6.58	0.01836	.	.	.	.	.	T	0.16514	0.0397	N	0.22421	0.69	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.037	B;B;B	0.17433	0.018;0.018;0.012	T	0.23404	-1.0189	9	0.27082	T	0.32	0.0052	9.5082	0.39060	0.0:0.1362:0.1136:0.7501	.	273;257;217	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	P	247;257;273	ENSP00000373614:A247P;ENSP00000447752:A257P;ENSP00000228463:A273P	ENSP00000228463:A273P	A	-	1	0	SELPLG	107541444	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.139000	0.00587	-1.985000	0.00984	-1.058000	0.02302	GCA		0.582	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			G	109017315	C	G	109017315	3	3	183	1	0	0	0	0	1	0	0	0	14026	739	26	4	473	4	SELPLG	12	109017315	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	8060111	109017315	24834580	502	11199											
RBM19	9904	broad.mit.edu	37	12	114395588	114395588	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:114395588T>C	ENST00000545145.2	-	6	917	c.839A>G	c.(838-840)gAg>gGg	p.E280G	RBM19_ENST00000392561.3_Splice_Site_p.E280G|RBM19_ENST00000261741.5_Splice_Site_p.E280G	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	280					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CACACGCACCTCGGCTCTGGC	0.622																																																0													113	99	104					12																	114395588		2203	4300	6503	SO:0001630	splice_region_variant	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.840+1A>G	12.37:g.114395588T>C			A8K5X9|Q9BPY6|Q9UFN5	Splice_Site	SNP	ENST00000545145.2	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.906307	0.52333	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06294	3.32;3.32;3.32	4.72	4.72	0.59763	Nucleotide-binding, alpha-beta plait (1);	1.021420	0.07772	N	0.951959	T	0.04861	0.0131	N	0.08118	0	0.38981	D	0.95894	B	0.06786	0.001	B	0.04013	0.001	T	0.40794	-0.9544	10	0.30078	T	0.28	-18.1656	13.2404	0.59994	0.0:0.0:0.0:1.0	.	280	Q9Y4C8	RBM19_HUMAN	G	280	ENSP00000442053:E280G;ENSP00000376344:E280G;ENSP00000261741:E280G	ENSP00000261741:E280G	E	-	2	0	RBM19	112879971	0.997000	0.39634	0.893000	0.35052	0.027000	0.11550	3.209000	0.51122	2.126000	0.65437	0.533000	0.62120	GAG		0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	Missense_Mutation	C	114395588	T	C	114395588	5	2	183	1	0	0	0	0	0	0	1	0	13127	1565	54	3	2119	3	RBM19	12	114395588	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	5378273	114395588	19456307	503	11200											
GCN1L1	10985	broad.mit.edu	37	12	120591026	120591026	+	Frame_Shift_Del	DEL	G	G	-	rs371817946		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:120591026delG	ENST00000300648.6	-	33	4065	c.4053delC	c.(4051-4053)cccfs	p.P1351fs	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1351					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTGCTGGGAGGGGGTGGAGA	0.602																																																0													54	58	57					12																	120591026		1990	4155	6145	SO:0001589	frameshift_variant	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4053delC	12.37:g.120591026delG	ENSP00000300648:p.Pro1351fs		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Frame_Shift_Del	DEL	ENST00000300648.6	37	CCDS41847.1																																																																																				0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			-	120591026	G	-	120591026	7	5	183	1	0	1	0	1	0	0	0	0	6301	987	35	0	4066	0	GCN1L1	12	120591026	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	6195438	120591026	13260869	504	11201											
GCN1L1	10985	broad.mit.edu	37	12	120599736	120599736	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:120599736C>G	ENST00000300648.6	-	21	2302	c.2290G>C	c.(2290-2292)Gcc>Ccc	p.A764P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	764					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCATAATGGCAAACTCCTCC	0.582																																																0													78	86	83					12																	120599736		2083	4245	6328	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2290G>C	12.37:g.120599736C>G	ENSP00000300648:p.Ala764Pro		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366333	0.61513	.	.	ENSG00000089154	ENST00000300648	T	0.51325	0.71	5.8	4.9	0.64082	Armadillo-type fold (1);	0.051107	0.85682	D	0.000000	T	0.50939	0.1645	M	0.71581	2.175	0.80722	D	1	B	0.32526	0.374	B	0.35470	0.203	T	0.49504	-0.8933	10	0.30854	T	0.27	.	16.4935	0.84208	0.1315:0.8685:0.0:0.0	.	764	Q92616	GCN1L_HUMAN	P	764	ENSP00000300648:A764P	ENSP00000300648:A764P	A	-	1	0	GCN1L1	119084119	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.521000	0.67086	1.443000	0.47586	0.561000	0.74099	GCC		0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			G	120599736	C	G	120599736	3	3	183	1	0	0	0	0	1	0	0	0	6301	710	25	4	5877	4	GCN1L1	12	120599736	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	8710	120599736	13252159	505	11202											
LRRC43	254050	broad.mit.edu	37	12	122674785	122674785	+	Silent	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:122674785A>T	ENST00000339777.4	+	5	799	c.771A>T	c.(769-771)ggA>ggT	p.G257G	LRRC43_ENST00000425921.1_Silent_p.G72G	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	257										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCTGCAGGGAAACCCACTGG	0.637																																																0													91	103	99					12																	122674785		2168	4260	6428	SO:0001819	synonymous_variant	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.771A>T	12.37:g.122674785A>T			Q6ZVT9	Silent	SNP	ENST00000339777.4	37	CCDS45001.1																																																																																				0.637	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		T	122674785	A	T	122674785	2	4	183	1	0	0	0	0	0	0	0	1	9003	233	9	5		5	LRRC43	12	122674785	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2075049	122674785	11177110	506	11203											
KNTC1	9735	broad.mit.edu	37	12	123087702	123087702	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:123087702G>A	ENST00000333479.7	+	48	5190	c.5013G>A	c.(5011-5013)acG>acA	p.T1671T	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Silent_p.T96T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1671					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTAAGATCACGCAGACCATCG	0.433																																																0													60	57	58					12																	123087702		1889	4105	5994	SO:0001819	synonymous_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5013G>A	12.37:g.123087702G>A			A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	CCDS45002.1																																																																																				0.433	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			A	123087702	G	A	123087702	2	1	183	1	0	0	0	0	0	0	0	1	8430	1074	38	1		1	KNTC1	12	123087702	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	412917	123087702	10764193	507	11204											
DHX37	57647	broad.mit.edu	37	12	125467060	125467060	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:125467060T>G	ENST00000308736.2	-	3	484	c.386A>C	c.(385-387)aAa>aCa	p.K129T	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	129							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AACTCACTCTTTGGTGTGATA	0.552																																																0													308	305	306					12																	125467060		2203	4300	6503	SO:0001583	missense	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.386A>C	12.37:g.125467060T>G	ENSP00000311135:p.Lys129Thr		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.593443	0.28357	.	.	ENSG00000150990	ENST00000308736	T	0.09445	2.98	5.15	-3.17	0.05202	.	0.453907	0.25975	N	0.027112	T	0.08492	0.0211	L	0.55481	1.735	0.51233	D	0.999911	P	0.36282	0.546	B	0.29267	0.1	T	0.04678	-1.0934	10	0.46703	T	0.11	.	11.1886	0.48671	0.0:0.47:0.0:0.53	.	129	Q8IY37	DHX37_HUMAN	T	129	ENSP00000311135:K129T	ENSP00000311135:K129T	K	-	2	0	DHX37	124033013	0.999000	0.42202	0.032000	0.17829	0.247000	0.25773	0.458000	0.21892	-0.950000	0.03659	0.379000	0.24179	AAA		0.552	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		G	125467060	T	G	125467060	3	3	183	1	0	0	0	0	1	0	0	0	4512	1841	64	5	3187	5	DHX37	12	125467060	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2379358	125467060	8384835	508	11205											
TMEM132D	121256	broad.mit.edu	37	12	129559558	129559558	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:129559558G>A	ENST00000422113.2	-	9	2488	c.2162C>T	c.(2161-2163)aCg>aTg	p.T721M	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T259M	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	721					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCCAAGGGCGTGACTGAGCC	0.468																																																0													60	55	56					12																	129559558		2203	4300	6503	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2162C>T	12.37:g.129559558G>A	ENSP00000408581:p.Thr721Met		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373989	0.42105	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14266	2.52;2.52	4.3	3.1	0.35709	.	0.258733	0.34603	N	0.003836	T	0.08758	0.0217	L	0.46741	1.465	0.47276	D	0.999374	P;P	0.42649	0.652;0.786	B;B	0.35770	0.07;0.21	T	0.10154	-1.0642	9	.	.	.	-22.6288	2.5652	0.04781	0.2437:0.3173:0.439:0.0	.	721;259	Q14C87;Q14C87-2	T132D_HUMAN;.	M	259;721	ENSP00000374092:T259M;ENSP00000408581:T721M	.	T	-	2	0	TMEM132D	128125511	1.000000	0.71417	0.961000	0.40146	0.565000	0.35776	4.227000	0.58612	2.090000	0.63153	0.462000	0.41574	ACG		0.468	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		A	129559558	G	A	129559558	3	1	183	1	0	0	0	0	1	0	0	0	16052	1145	40	1	1141	1	TMEM132D	12	129559558	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	4092498	129559558	4292337	509	11206											
FZD10	11211	broad.mit.edu	37	12	130647929	130647929	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:130647929A>G	ENST00000229030.4	+	1	926	c.442A>G	c.(442-444)Atg>Gtg	p.M148V	FZD10_ENST00000539839.1_Missense_Mutation_p.H115R|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	148	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTACCTGTGCATGGAGGCGCC	0.667																																																0													66	69	68					12																	130647929		2203	4300	6503	SO:0001583	missense	11211			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.442A>G	12.37:g.130647929A>G	ENSP00000229030:p.Met148Val			Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.45|11.45	1.642372|1.642372	0.29246|0.29246	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000539839|ENST00000229030	.|T	.|0.74842	.|-0.88	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Frizzled domain (5);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.76205|0.76205	0.3955|0.3955	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.47106	.|0.89	.|P	.|0.50754	.|0.649	T|T	0.77978|0.77978	-0.2384|-0.2384	6|10	0.87932|0.52906	D|T	0|0.07	.|.	14.7374|14.7374	0.69424|0.69424	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|148	.|Q9ULW2	.|FZD10_HUMAN	R|V	115|148	.|ENSP00000229030:M148V	ENSP00000438460:H115R|ENSP00000229030:M148V	H|M	+|+	2|1	0|0	FZD10|FZD10	129213882|129213882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.164000|7.164000	0.77533|0.77533	1.877000|1.877000	0.54381|0.54381	0.459000|0.459000	0.35465|0.35465	CAT|ATG		0.667	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	130647929	A	G	130647929	3	3	183	1	0	0	0	0	1	0	0	0	6131	217	8	3	444	3	FZD10	12	130647929	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1088371	130647929	3203966	510	11207											
GPR133	283383	broad.mit.edu	37	12	131466593	131466593	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:131466593T>C	ENST00000261654.5	+	5	1034	c.475T>C	c.(475-477)Tcc>Ccc	p.S159P	GPR133_ENST00000535015.1_Missense_Mutation_p.S191P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	159					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGGGAGGCCTCCTTCAGCCC	0.602																																																0													74	71	72					12																	131466593		2203	4300	6503	SO:0001583	missense	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.475T>C	12.37:g.131466593T>C	ENSP00000261654:p.Ser159Pro		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	t	15.59	2.878222	0.51801	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.74002	-0.8;-0.8	4.23	3.07	0.35406	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.337620	0.29956	N	0.010762	T	0.66479	0.2793	N	0.25485	0.75	0.80722	D	1	P;P	0.39157	0.662;0.523	P;P	0.45377	0.478;0.478	T	0.66221	-0.5978	10	0.87932	D	0	.	9.2851	0.37753	0.8318:0.0:0.0:0.1682	.	191;159	B7ZLF7;Q6QNK2	.;GP133_HUMAN	P	159;191	ENSP00000261654:S159P;ENSP00000444425:S191P	ENSP00000261654:S159P	S	+	1	0	GPR133	130032546	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	3.017000	0.49615	0.580000	0.29522	-0.642000	0.03964	TCC		0.602	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		C	131466593	T	C	131466593	3	2	183	1	0	0	0	0	1	0	0	0	6645	1551	54	3	493	3	GPR133	12	131466593	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	818664	131466593	2385302	511	11208											
EP400	57634	broad.mit.edu	37	12	132537936	132537936	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr12:132537936delC	ENST00000333577.4	+	44	7739	c.7630delC	c.(7630-7632)cccfs	p.P2546fs	EP400_ENST00000330386.6_Frame_Shift_Del_p.P2429fs|EP400_ENST00000389561.2_Frame_Shift_Del_p.P2510fs|EP400_ENST00000332482.4_Frame_Shift_Del_p.P2473fs|EP400_ENST00000389562.2_Frame_Shift_Del_p.P2509fs			Q96L91	EP400_HUMAN	E1A binding protein p400	2546	Interaction with ZNF42. {ECO:0000250}.|Poly-Pro.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCCCAgccacccccgcccca	0.736																																																0													6	8	7					12																	132537936		1989	3989	5978	SO:0001589	frameshift_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7630delC	12.37:g.132537936delC	ENSP00000333602:p.Pro2546fs		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Del	DEL	ENST00000333577.4	37																																																																																					0.736	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		-	132537936	C	-	132537936	7	5	183	1	0	1	0	1	0	0	0	0	5151	507	18	0	7685	0	EP400	12	132537936	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	1071343	132537936	1313959	512	11209											
ZMYM5	9205	broad.mit.edu	37	13	20398645	20398645	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:20398645delT	ENST00000337963.4	-	8	2246	c.1982delA	c.(1981-1983)aatfs	p.N661fs		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	661						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		cacaccatcatttttctcatt	0.323																																																0													130	104	112					13																	20398645		1568	3582	5150	SO:0001589	frameshift_variant	9205			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1982delA	13.37:g.20398645delT	ENSP00000337034:p.Asn661fs		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Frame_Shift_Del	DEL	ENST00000337963.4	37																																																																																					0.323	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		-	20398645	T	-	20398645	7	5	183	1	0	1	0	1	0	0	0	0	17708	1493	52	0	31	0	ZMYM5	13	20398645	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08		20398645	94771233	513	11210											
IFT88	8100	broad.mit.edu	37	13	21205180	21205180	+	Frame_Shift_Del	DEL	A	A	-	rs547326608		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:21205180delA	ENST00000319980.6	+	18	1679	c.1352delA	c.(1351-1353)gaafs	p.E451fs	IFT88_ENST00000351808.5_Frame_Shift_Del_p.E442fs|IFT88_ENST00000537103.1_Frame_Shift_Del_p.E423fs|IFT88_ENST00000382778.4_Frame_Shift_Del_p.E451fs|IFT88_ENST00000461115.1_3'UTR	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	451					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAGTGTTGGAAAAAAAGGAC	0.363																																																0													108	110	109					13																	21205180		2203	4300	6503	SO:0001589	frameshift_variant	8100			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1352delA	13.37:g.21205180delA	ENSP00000323580:p.Glu451fs		A2A491|B4DUS2|Q5SZJ6|Q8N719	Frame_Shift_Del	DEL	ENST00000319980.6	37	CCDS31944.1																																																																																				0.363	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		-	21205180	A	-	21205180	7	5	183	1	0	1	0	1	0	0	0	0	7568	246	9	0	1414	0	IFT88	13	21205180	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	806535	21205180	93964698	514	11211											
PAN3	255967	broad.mit.edu	37	13	28794507	28794507	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:28794507T>C	ENST00000380958.3	+	6	1144	c.992T>C	c.(991-993)tTa>tCa	p.L331S	PAN3_ENST00000399613.1_Missense_Mutation_p.L131S	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		ACTGCTGGATTAGCGCCAGGT	0.433																																																0													167	168	167					13																	28794507		2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.992T>C	13.37:g.28794507T>C	ENSP00000370345:p.Leu331Ser			Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	T	15.62	2.887861	0.52014	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.46063	0.88;0.91	5.6	5.6	0.85130	.	0.069583	0.64402	D	0.000020	T	0.27900	0.0687	N	0.19112	0.55	0.80722	D	1	B;B;B	0.29988	0.053;0.264;0.123	B;B;B	0.21151	0.032;0.033;0.015	T	0.07252	-1.0782	10	0.22109	T	0.4	-8.0905	15.7865	0.78306	0.0:0.0:0.0:1.0	.	331;331;277	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	S	331;131	ENSP00000370345:L331S;ENSP00000382522:L131S	ENSP00000370345:L331S	L	+	2	0	PAN3	27692507	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.797000	0.69087	2.125000	0.65367	0.454000	0.30748	TTA		0.433	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		C	28794507	T	C	28794507	3	2	183	1	0	0	0	0	1	0	0	0	11417	1764	61	3	1014	3	PAN3	13	28794507	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	7589327	28794507	86375371	515	11212											
MTUS2	23281	broad.mit.edu	37	13	29599785	29599785	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:29599785C>A	ENST00000431530.3	+	1	1038	c.980C>A	c.(979-981)cCc>cAc	p.P327H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	317						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TATGTTCCTCCCAGGAGAGTT	0.507																																																0													46	47	47					13																	29599785		1940	4138	6078	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.980C>A	13.37:g.29599785C>A	ENSP00000392057:p.Pro327His		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.690932	0.48097	.	.	ENSG00000132938	ENST00000431530	T	0.13538	2.58	5.15	3.43	0.39272	.	1.084250	0.07123	N	0.844161	T	0.26955	0.0660	L	0.54323	1.7	0.18873	N	0.999982	D	0.61697	0.99	P	0.56474	0.799	T	0.13282	-1.0515	9	.	.	.	.	8.913	0.35565	0.0:0.8286:0.0:0.1714	.	317	Q5JR59	MTUS2_HUMAN	H	327	ENSP00000392057:P327H	.	P	+	2	0	MTUS2	28497785	0.002000	0.14202	0.000000	0.03702	0.019000	0.09904	0.838000	0.27572	0.575000	0.29434	0.655000	0.94253	CCC		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		A	29599785	C	A	29599785	3	1	183	1	0	0	0	0	1	0	0	0	9968	623	22	4	982	4	MTUS2	13	29599785	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	805278	29599785	85570093	516	11213											
MTUS2	23281	broad.mit.edu	37	13	29600226	29600226	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:29600226A>G	ENST00000431530.3	+	1	1479	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	464						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGTGGGAATAAGGACAGTGTT	0.512																																																0													85	91	89					13																	29600226		1958	4149	6107	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1421A>G	13.37:g.29600226A>G	ENSP00000392057:p.Lys474Arg		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	a	10.82	1.457192	0.26161	.	.	ENSG00000132938	ENST00000431530	T	0.11277	2.79	5.51	-10.4	0.00318	.	3.019370	0.00951	N	0.002968	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37407	-0.9707	9	.	.	.	.	0.0244	0.00004	0.2745:0.2184:0.2145:0.2926	.	464	Q5JR59	MTUS2_HUMAN	R	474	ENSP00000392057:K474R	.	K	+	2	0	MTUS2	28498226	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.497000	0.02289	-1.793000	0.01258	0.533000	0.62120	AAG		0.512	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		G	29600226	A	G	29600226	3	3	183	1	0	0	0	0	1	0	0	0	9968	72	3	3	1423	3	MTUS2	13	29600226	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	441	29600226	85569652	517	11214											
FREM2	341640	broad.mit.edu	37	13	39262566	39262566	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:39262566C>A	ENST00000280481.7	+	1	1301	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	362					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTACTTCTCCATTCCAGCCT	0.577																																																0													122	112	115					13																	39262566		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1085C>A	13.37:g.39262566C>A	ENSP00000280481:p.Pro362Gln		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128830	0.37533	.	.	ENSG00000150893	ENST00000280481	T	0.23147	1.92	5.94	5.94	0.96194	.	0.222920	0.46758	D	0.000272	T	0.38026	0.1025	M	0.79258	2.445	0.54753	D	0.999982	B	0.16396	0.017	B	0.19391	0.025	T	0.17561	-1.0365	10	0.59425	D	0.04	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	362	Q5SZK8	FREM2_HUMAN	Q	362	ENSP00000280481:P362Q	ENSP00000280481:P362Q	P	+	2	0	FREM2	38160566	0.961000	0.32948	0.850000	0.33497	0.714000	0.41099	4.918000	0.63376	2.826000	0.97356	0.561000	0.74099	CCA		0.577	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		A	39262566	C	A	39262566	3	1	183	1	0	0	0	0	1	0	0	0	6047	594	21	4	1087	4	FREM2	13	39262566	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	9662340	39262566	75907312	518	11215											
KBTBD6	89890	broad.mit.edu	37	13	41705364	41705364	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:41705364C>A	ENST00000379485.1	-	1	1518	c.1284G>T	c.(1282-1284)atG>atT	p.M428I	KBTBD6_ENST00000499385.2_Missense_Mutation_p.M362I	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	428										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATGCCACATCCATGCCCTCAC	0.473																																																0													111	108	109					13																	41705364		2203	4300	6503	SO:0001583	missense	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1284G>T	13.37:g.41705364C>A	ENSP00000368799:p.Met428Ile		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	8.654	0.899031	0.17686	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.65732	-0.17;-0.17	3.8	3.8	0.43715	Kelch-type beta propeller (1);	0.117416	0.64402	D	0.000018	T	0.52092	0.1713	L	0.38692	1.165	0.33008	D	0.527197	B;P	0.35527	0.274;0.507	B;B	0.37550	0.173;0.253	T	0.63157	-0.6700	10	0.29301	T	0.29	.	13.5205	0.61566	0.0:1.0:0.0:0.0	.	362;428	F5GZN7;Q86V97	.;KBTB6_HUMAN	I	428;362	ENSP00000368799:M428I;ENSP00000444326:M362I	ENSP00000368799:M428I	M	-	3	0	KBTBD6	40603364	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.628000	0.24522	2.132000	0.65825	0.462000	0.41574	ATG		0.473	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		A	41705364	C	A	41705364	3	1	183	1	0	0	0	0	1	0	0	0	7999	594	21	4	744	4	KBTBD6	13	41705364	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2442798	41705364	73464514	519	11216											
DGKH	160851	broad.mit.edu	37	13	42793830	42793830	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:42793830T>C	ENST00000337343.4	+	28	3363	c.3342T>C	c.(3340-3342)ccT>ccC	p.P1114P	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Silent_p.P869P|DGKH_ENST00000379274.2_Silent_p.P978P|DGKH_ENST00000536612.1_Silent_p.P978P|DGKH_ENST00000261491.5_Silent_p.P1114P|DGKH_ENST00000540693.1_Silent_p.P1114P	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1114					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGGAACCTCCTATGGATTGCA	0.368																																																0													57	52	54					13																	42793830		2203	4300	6503	SO:0001819	synonymous_variant	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.3342T>C	13.37:g.42793830T>C			A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	CCDS9381.1																																																																																				0.368	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		C	42793830	T	C	42793830	2	2	183	1	0	0	0	0	0	0	0	1	4472	1509	53	3		3	DGKH	13	42793830	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1088466	42793830	72376048	520	11217											
RB1	5925	broad.mit.edu	37	13	49051536	49051536	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:49051536A>G	ENST00000267163.4	+	26	2847	c.2709A>G	c.(2707-2709)gaA>gaG	p.E903E	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	903	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AACTGGCAGAAATGAGTAAGT	0.299		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)											55	57	56					13																	49051536		2203	4295	6498	SO:0001819	synonymous_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2709A>G	13.37:g.49051536A>G			A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	CCDS31973.1																																																																																				0.299	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			G	49051536	A	G	49051536	2	3	183	1	0	0	0	0	0	0	0	1	13104	11	1	3		3	RB1	13	49051536	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	6257706	49051536	66118342	521	11218											
DIS3	22894	broad.mit.edu	37	13	73340159	73340159	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:73340159T>C	ENST00000377767.4	-	15	2021	c.1921A>G	c.(1921-1923)Atg>Gtg	p.M641V	DIS3_ENST00000545453.1_Missense_Mutation_p.M479V|DIS3_ENST00000377780.4_Missense_Mutation_p.M611V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	641					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCACTGTCCATGTGGAATCGA	0.323										Multiple Myeloma(4;0.011)																																						0													50	48	49					13																	73340159		2203	4300	6503	SO:0001583	missense	22894			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1921A>G	13.37:g.73340159T>C	ENSP00000366997:p.Met641Val		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	T	8.551	0.875517	0.17395	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.29655	1.56;1.56;1.56	6.04	4.68	0.58851	Ribonuclease II/R (2);	0.187855	0.64402	D	0.000002	T	0.10551	0.0258	N	0.01417	-0.88	0.53688	D	0.999975	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.18681	-1.0329	10	0.10111	T	0.7	.	12.7598	0.57356	0.0:0.0732:0.0:0.9268	.	611;641	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	V	641;611;479	ENSP00000366997:M641V;ENSP00000367011:M611V;ENSP00000440058:M479V	ENSP00000366997:M641V	M	-	1	0	DIS3	72238160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.069000	0.64370	2.317000	0.78254	0.460000	0.39030	ATG		0.323	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		C	73340159	T	C	73340159	3	2	183	1	0	0	0	0	1	0	0	0	4537	1464	51	3	983	3	DIS3	13	73340159	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	24288623	73340159	41829719	522	11219											
MYCBP2	23077	broad.mit.edu	37	13	77759324	77759326	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:77759324_77759326delTAT	ENST00000544440.2	-	32	4534_4536	c.4517_4519delATA	c.(4516-4521)aatact>act	p.N1506del	MYCBP2_ENST00000357337.6_In_Frame_Del_p.N1506del|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_In_Frame_Del_p.N1544del					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAGTGAAAGTATTATGACATTC	0.419																																																0																																										SO:0001651	inframe_deletion	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4517_4519delATA	13.37:g.77759327_77759329delTAT	ENSP00000444596:p.Asn1506del			In_Frame_Del	DEL	ENST00000544440.2	37																																																																																					0.419	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		-	77759326	TAT	-	77759324	7	5	183	1	0	1	0	1	0	0	0	0	10020	1638	57	0	9611	0	MYCBP2	13	77759324	In_Frame_Del	DEL	TAT	TCGA-B0-5098-01A-01D-1421-08	4419165	77759324	37410554	523	11220											
SLITRK6	84189	broad.mit.edu	37	13	86368261	86368261	+	Missense_Mutation	SNP	C	C	T	rs375069918		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:86368261C>T	ENST00000400286.2	-	2	2981	c.2383G>A	c.(2383-2385)Gaa>Aaa	p.E795K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	795					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.E795K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTCAGCTCTTCGTGGGCTCCA	0.393																																																1	Substitution - Missense(1)	skin(1)						C	LYS/GLU	1,3745		0,1,1872	155	145	148		2383	5.8	0.9	13		148	0,8202		0,0,4101	no	missense	SLITRK6	NM_032229.2	56	0,1,5973	TT,TC,CC		0.0,0.0267,0.0084	possibly-damaging	795/842	86368261	1,11947	1873	4101	5974	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2383G>A	13.37:g.86368261C>T	ENSP00000383143:p.Glu795Lys		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993790	0.35131	2.67E-4	0.0	ENSG00000184564	ENST00000400286	T	0.56611	0.45	5.84	5.84	0.93424	.	0.563671	0.20101	N	0.099238	T	0.30166	0.0756	N	0.08118	0	0.58432	D	0.999992	P	0.44090	0.826	B	0.28139	0.086	T	0.26608	-1.0098	10	0.35671	T	0.21	-6.6524	18.719	0.91686	0.0:1.0:0.0:0.0	.	795	Q9H5Y7	SLIK6_HUMAN	K	795	ENSP00000383143:E795K	ENSP00000383143:E795K	E	-	1	0	SLITRK6	85266262	1.000000	0.71417	0.902000	0.35471	0.249000	0.25844	4.464000	0.60134	2.760000	0.94817	0.655000	0.94253	GAA		0.393	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		T	86368261	C	T	86368261	3	4	183	1	0	0	0	0	1	0	0	0	14753	893	31	1	146	1	SLITRK6	13	86368261	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	8608937	86368261	28801617	524	11221											
GPR180	160897	broad.mit.edu	37	13	95264569	95264569	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:95264569A>G	ENST00000376958.4	+	3	455	c.430A>G	c.(430-432)Atc>Gtc	p.I144V		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	144					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GGTGGAAGATATCCCATTTGA	0.403																																																0													146	133	138					13																	95264569		2203	4300	6503	SO:0001583	missense	160897			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"intimal thickness related receptor"	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.430A>G	13.37:g.95264569A>G	ENSP00000366157:p.Ile144Val		A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.086349	0.36855	.	.	ENSG00000152749	ENST00000376958	T	0.45668	0.89	5.28	2.83	0.33086	Rhodopsin-like GPCR transmembrane domain (1);	0.217712	0.47455	N	0.000240	T	0.36193	0.0958	M	0.66939	2.045	0.44890	D	0.9979	B	0.10296	0.003	B	0.12156	0.007	T	0.11567	-1.0582	10	0.17832	T	0.49	-8.9319	8.1507	0.31139	0.7779:0.0:0.2221:0.0	.	144	Q86V85	GP180_HUMAN	V	144	ENSP00000366157:I144V	ENSP00000366157:I144V	I	+	1	0	GPR180	94062570	0.985000	0.35326	0.957000	0.39632	0.994000	0.84299	1.052000	0.30429	0.405000	0.25532	0.528000	0.53228	ATC		0.403	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		G	95264569	A	G	95264569	3	3	183	1	0	0	0	0	1	0	0	0	6678	449	16	3	440	3	GPR180	13	95264569	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	8896308	95264569	19905309	525	11222											
ABCC4	10257	broad.mit.edu	37	13	95822853	95822853	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:95822853A>G	ENST00000376887.4	-	14	1871	c.1757T>C	c.(1756-1758)aTc>aCc	p.I586T	ABCC4_ENST00000412704.1_Missense_Mutation_p.I586T|ABCC4_ENST00000431522.1_Missense_Mutation_p.I586T|ABCC4_ENST00000536256.1_Missense_Mutation_p.I511T|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	586	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TAAAATTGTGATCTTCTCATG	0.368																																																0													93	88	90					13																	95822853		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1757T>C	13.37:g.95822853A>G	ENSP00000366084:p.Ile586Thr		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196416	0.38806	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.61	4.4	0.53042	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.372553	0.33457	N	0.004893	T	0.49047	0.1534	N	0.00040	-2.495	0.41711	D	0.989458	B;B;B;B;B	0.18741	0.02;0.023;0.022;0.01;0.03	B;B;B;B;B	0.22601	0.013;0.04;0.025;0.04;0.027	T	0.53816	-0.8385	10	0.12430	T	0.62	.	12.6503	0.56757	0.8618:0.1382:0.0:0.0	.	511;586;586;586;586	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	T	586;586;511;586	ENSP00000388657:I586T;ENSP00000366084:I586T;ENSP00000442024:I511T;ENSP00000398562:I586T	ENSP00000366084:I586T	I	-	2	0	ABCC4	94620854	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.413000	0.52686	0.924000	0.37069	0.454000	0.30748	ATC		0.368	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		G	95822853	A	G	95822853	3	3	183	1	0	0	0	0	1	0	0	0	55	333	12	3	2341	3	ABCC4	13	95822853	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	558284	95822853	19347025	526	11223											
ARHGEF7	8874	broad.mit.edu	37	13	111935618	111935618	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:111935618C>A	ENST00000375741.2	+	17	2171	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	ARHGEF7_ENST00000218789.5_Missense_Mutation_p.L463M|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.L463M|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.L548M|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.L538M|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.L620M|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.L385M|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.L591M|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.L463M|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.L463M	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	641					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTGGGGACCCCTGGAGCCTCC	0.706																																																0													43	41	41					13																	111935618		2181	4282	6463	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1921C>A	13.37:g.111935618C>A	ENSP00000364893:p.Leu641Met		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655595	0.67586	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T	0.65364	0.45;0.43;0.44;0.47;0.46;0.48;0.48;0.5;0.41;-0.15	4.73	2.99	0.34606	.	0.085303	0.49916	N	0.000139	T	0.72614	0.3482	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.99;1.0;0.999;0.999;0.999	T	0.69202	-0.5207	10	0.44086	T	0.13	.	9.3022	0.37853	0.1444:0.7794:0.0:0.0762	.	385;538;463;591;641;620	E9PDQ5;B7Z6G2;Q14155-6;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	M	620;641;591;548;618;463;463;463;538;463;385	ENSP00000325994:L620M;ENSP00000364893:L641M;ENSP00000364891:L591M;ENSP00000359657:L548M;ENSP00000218789:L463M;ENSP00000364888:L463M;ENSP00000397068:L463M;ENSP00000364889:L538M;ENSP00000364875:L463M;ENSP00000417596:L385M	ENSP00000218789:L463M	L	+	1	2	ARHGEF7	110733619	0.985000	0.35326	0.969000	0.41365	0.979000	0.70002	2.672000	0.46850	0.420000	0.25954	0.561000	0.74099	CTG		0.706	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		A	111935618	C	A	111935618	3	1	183	1	0	0	0	0	1	0	0	0	911	680	24	4	1987	4	ARHGEF7	13	111935618	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	16112765	111935618	3234260	527	11224											
LAMP1	3916	broad.mit.edu	37	13	113965071	113965071	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr13:113965071delA	ENST00000332556.4	+	4	645	c.451delA	c.(451-453)aaafs	p.K152fs	LAMP1_ENST00000397181.3_Intron	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	152	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AGATATAGATAAAAAATACAG	0.398																																																0													100	105	103					13																	113965071		2072	4192	6264	SO:0001589	frameshift_variant	3916			J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"CD molecules"	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.451delA	13.37:g.113965071delA	ENSP00000333298:p.Lys152fs		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Frame_Shift_Del	DEL	ENST00000332556.4	37	CCDS41909.1																																																																																				0.398	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			-	113965071	A	-	113965071	7	5	183	1	0	1	0	1	0	0	0	0	8619	363	13	0	465	0	LAMP1	13	113965071	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	2029453	113965071	1204807	528	11225											
OR4Q3	441669	broad.mit.edu	37	14	20215693	20215693	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:20215693T>C	ENST00000331723.1	+	1	107	c.107T>C	c.(106-108)aTt>aCt	p.I36T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTTTTACATTGCTATTGTC	0.383																																																0													177	181	180					14																	20215693		2203	4300	6503	SO:0001583	missense	441669			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.107T>C	14.37:g.20215693T>C	ENSP00000330049:p.Ile36Thr		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	4.742	0.138033	0.09083	.	.	ENSG00000182652	ENST00000331723	T	0.03181	4.02	4.32	3.12	0.35913	.	1.116690	0.07031	U	0.828475	T	0.02848	0.0085	N	0.13371	0.34	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.40365	-0.9567	10	0.19590	T	0.45	.	8.2167	0.31516	0.0:0.1016:0.0:0.8984	.	36	Q8NH05	OR4Q3_HUMAN	T	36	ENSP00000330049:I36T	ENSP00000330049:I36T	I	+	2	0	OR4Q3	19285533	0.000000	0.05858	0.004000	0.12327	0.877000	0.50540	0.116000	0.15561	1.814000	0.52955	0.416000	0.27883	ATT		0.383	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			C	20215693	T	C	20215693	3	2	183	1	0	0	0	0	1	0	0	0	11083	1493	52	3	109	3	OR4Q3	14	20215693	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08		20215693	87133847	529	11226											
JUB	84962	broad.mit.edu	37	14	23445902	23445902	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:23445902C>A	ENST00000262713.2	-	3	1503	c.1128G>T	c.(1126-1128)aaG>aaT	p.K376N	AJUBA_ENST00000397388.3_De_novo_Start_OutOfFrame|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.K376N	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	376	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										TGTAGAAAGCCTTGCAACGCA	0.527																																																0													141	129	133					14																	23445902		2203	4300	6503	SO:0001583	missense	84962			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1128G>T	14.37:g.23445902C>A	ENSP00000262713:p.Lys376Asn		A8MX18|D3DS37	Translation_Start_Site	SNP	ENST00000262713.2	37	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603055	0.66445	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.88277	-2.36;-2.36	5.74	2.41	0.29592	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	M	0.68728	2.09	0.52501	D	0.999954	D	0.57571	0.98	D	0.64776	0.929	D	0.89152	0.3524	10	0.72032	D	0.01	.	5.772	0.18259	0.0:0.52:0.0:0.48	.	376	Q96IF1	JUB_HUMAN	N	376	ENSP00000262713:K376N;ENSP00000354491:K376N	ENSP00000262713:K376N	K	-	3	2	JUB	22515742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.260000	0.32968	0.709000	0.31976	-0.345000	0.07892	AAG		0.527	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			A	23445902	C	A	23445902	3	1	183	1	0	0	0	0	1	0	0	0	7970	680	24	4	512	4	JUB	14	23445902	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3230209	23445902	83903638	530	11227											
THTPA	79178	broad.mit.edu	37	14	24026241	24026241	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:24026241T>C	ENST00000288014.6	+	1	1011	c.275T>C	c.(274-276)cTc>cCc	p.L92P	THTPA_ENST00000554789.1_Missense_Mutation_p.L92P|THTPA_ENST00000554970.1_Missense_Mutation_p.L92P|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.L92P|THTPA_ENST00000556015.1_Missense_Mutation_p.L92P|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	92	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		GTGGCCCAACTCTGTAAGGTG	0.577																																																0													96	88	91					14																	24026241		2203	4300	6503	SO:0001583	missense	79178			AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.275T>C	14.37:g.24026241T>C	ENSP00000288014:p.Leu92Pro		D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	CCDS32053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.310483|4.310483	0.81358|0.81358	.|.	.|.	ENSG00000157306|ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789|ENST00000556545	T;T;T;T;T;T|.	0.52983|.	0.87;0.87;0.87;0.64;0.64;0.64|.	5.38|5.38	5.38|5.38	0.77491|0.77491	CYTH domain (2);CYTH-like domain (1);|.	0.129968|.	0.49916|.	D|.	0.000122|.	T|T	0.73666|0.73666	0.3616|0.3616	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.988;0.994|.	T|T	0.74751|0.74751	-0.3559|-0.3559	10|5	0.62326|.	D|.	0.03|.	-6.1545|-6.1545	13.3999|13.3999	0.60876|0.60876	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	92;92|.	G3V4J3;Q9BU02|.	.;THTPA_HUMAN|.	P|P	92|12	ENSP00000384580:L92P;ENSP00000288014:L92P;ENSP00000452281:L92P;ENSP00000451835:L92P;ENSP00000452465:L92P;ENSP00000450459:L92P|.	ENSP00000288014:L92P|.	L|S	+|+	2|1	0|0	THTPA|THTPA	23096081|23096081	0.104000|0.104000	0.21937|0.21937	0.986000|0.986000	0.45419|0.45419	0.943000|0.943000	0.58893|0.58893	1.849000|1.849000	0.39318|0.39318	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.577	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			C	24026241	T	C	24026241	3	2	183	1	0	0	0	0	1	0	0	0	15886	1551	54	3	277	3	THTPA	14	24026241	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	580339	24026241	83323299	531	11228											
DHRS4	10901	broad.mit.edu	37	14	24424296	24424296	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:24424296G>A	ENST00000313250.5	+	2	384	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000421831.1_Missense_Mutation_p.V43I|DHRS4_ENST00000559632.1_Missense_Mutation_p.V61I|DHRS4_ENST00000543741.2_Missense_Mutation_p.V61I|DHRS4_ENST00000397075.3_Missense_Mutation_p.V61I|DHRS4_ENST00000558263.1_Missense_Mutation_p.V61I|DHRS4_ENST00000382761.3_Missense_Mutation_p.V43I|DHRS4_ENST00000397074.3_Missense_Mutation_p.V61I|DHRS4_ENST00000308178.8_Missense_Mutation_p.V43I|DHRS4_ENST00000397073.2_Missense_Mutation_p.V43I|DHRS4_ENST00000558581.1_Missense_Mutation_p.V61I	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	61					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CCATGTGGTCGTCAGCAGCCG	0.657																																																0																																										SO:0001583	missense	10901			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.181G>A	14.37:g.24424296G>A	ENSP00000326219:p.Val61Ile		B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164056	0.06502	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.87729	0.86;2.08;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	3.48	-1.8	0.07907	NAD(P)-binding domain (1);	0.405922	0.24573	N	0.037373	T	0.64940	0.2644	N	0.10837	0.055	0.44762	D	0.99776	B;B;B;B;B;B	0.22800	0.075;0.003;0.035;0.035;0.042;0.002	B;B;B;B;B;B	0.23716	0.012;0.008;0.023;0.023;0.048;0.014	T	0.55915	-0.8065	10	0.02654	T	1	.	5.0132	0.14322	0.4921:0.1577:0.3502:0.0	.	61;61;61;61;61;61	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	I	61;43;43;43;43;61;61;61	ENSP00000326219:V61I;ENSP00000404147:V43I;ENSP00000380263:V43I;ENSP00000311993:V43I;ENSP00000372209:V43I;ENSP00000380265:V61I;ENSP00000380264:V61I;ENSP00000440508:V61I	ENSP00000311993:V43I	V	+	1	0	DHRS4	23494136	0.020000	0.18652	0.741000	0.31004	0.893000	0.52053	0.065000	0.14466	-0.742000	0.04790	0.479000	0.44913	GTC		0.657	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			A	24424296	G	A	24424296	3	1	183	1	0	0	0	0	1	0	0	0	4494	1145	40	1	187	1	DHRS4	14	24424296	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	398055	24424296	82925244	532	11229	86	2									
DHRS4	10901	broad.mit.edu	37	14	24424297	24424297	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:24424297T>G	ENST00000313250.5	+	2	385	c.182T>G	c.(181-183)gTc>gGc	p.V61G	DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000421831.1_Missense_Mutation_p.V43G|DHRS4_ENST00000559632.1_Missense_Mutation_p.V61G|DHRS4_ENST00000543741.2_Missense_Mutation_p.V61G|DHRS4_ENST00000397075.3_Missense_Mutation_p.V61G|DHRS4_ENST00000558263.1_Missense_Mutation_p.V61G|DHRS4_ENST00000382761.3_Missense_Mutation_p.V43G|DHRS4_ENST00000397074.3_Missense_Mutation_p.V61G|DHRS4_ENST00000308178.8_Missense_Mutation_p.V43G|DHRS4_ENST00000397073.2_Missense_Mutation_p.V43G|DHRS4_ENST00000558581.1_Missense_Mutation_p.V61G	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	61					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CATGTGGTCGTCAGCAGCCGG	0.662																																																0													52	58	56					14																	24424297		2203	4299	6502	SO:0001583	missense	10901			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.182T>G	14.37:g.24424297T>G	ENSP00000326219:p.Val61Gly		B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.046017	0.75846	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.72;1.86;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.48	3.48	0.39840	NAD(P)-binding domain (1);	0.405922	0.24573	N	0.037373	D	0.91932	0.7445	L	0.58925	1.835	0.80722	D	1	D;D;D;D;D;D	0.76494	0.987;0.995;0.999;0.999;0.977;0.992	P;D;D;D;D;D	0.77004	0.888;0.972;0.989;0.989;0.937;0.984	D	0.91842	0.5484	10	0.87932	D	0	.	10.0271	0.42079	0.0:0.0:0.0:1.0	.	61;61;61;61;61;61	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	G	61;43;43;43;43;61;61;61	ENSP00000326219:V61G;ENSP00000404147:V43G;ENSP00000380263:V43G;ENSP00000311993:V43G;ENSP00000372209:V43G;ENSP00000380265:V61G;ENSP00000380264:V61G;ENSP00000440508:V61G	ENSP00000311993:V43G	V	+	2	0	DHRS4	23494137	1.000000	0.71417	0.933000	0.37362	0.915000	0.54546	7.050000	0.76620	1.466000	0.48025	0.392000	0.25879	GTC		0.662	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			G	24424297	T	G	24424297	3	3	183	1	0	0	0	0	1	0	0	0	4494	1667	58	5	188	5	DHRS4	14	24424297	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1	24424297	82925243	533	11230	86	2									
RNF31	55072	broad.mit.edu	37	14	24619565	24619565	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:24619565C>T	ENST00000324103.6	+	7	1425	c.1105C>T	c.(1105-1107)Cta>Tta	p.L369L	RNF31_ENST00000382687.3_Silent_p.L218L|RNF31_ENST00000559275.1_Silent_p.L218L|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	369	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGCTGCTGTGCTATGTTCCAT	0.587																																																0													56	63	61					14																	24619565		2104	4229	6333	SO:0001819	synonymous_variant	55072			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1105C>T	14.37:g.24619565C>T			A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	CCDS41931.1																																																																																				0.587	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		T	24619565	C	T	24619565	2	4	183	1	0	0	0	0	0	0	0	1	13493	796	28	2		2	RNF31	14	24619565	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	195268	24619565	82729975	534	11231											
STRN3	29966	broad.mit.edu	37	14	31420083	31420083	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:31420083T>A	ENST00000357479.5	-	4	724	c.528A>T	c.(526-528)agA>agT	p.R176S	STRN3_ENST00000355683.5_Missense_Mutation_p.R176S	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	176	Calmodulin-binding. {ECO:0000255}.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTAAAAGCTGTCTGCCTTGCT	0.338																																																0													134	133	133					14																	31420083		2203	4300	6503	SO:0001583	missense	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.528A>T	14.37:g.31420083T>A	ENSP00000350071:p.Arg176Ser		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.899104	0.72754	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	T;T	0.79454	-1.27;-1.23	5.93	3.59	0.41128	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86493	0.5946	M	0.87381	2.88	0.58432	D	0.999996	D;D	0.69078	0.963;0.997	P;D	0.80764	0.678;0.994	D	0.85580	0.1239	10	0.87932	D	0	-19.4463	5.1409	0.14959	0.1251:0.1975:0.0:0.6774	.	176;176	Q13033-2;Q13033	.;STRN3_HUMAN	S	176;176;57	ENSP00000347909:R176S;ENSP00000350071:R176S	ENSP00000347909:R176S	R	-	3	2	STRN3	30489834	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.302000	0.19192	1.070000	0.40811	0.529000	0.55759	AGA		0.338	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		A	31420083	T	A	31420083	3	1	183	1	0	0	0	0	1	0	0	0	15335	1664	58	5	1925	5	STRN3	14	31420083	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	6800518	31420083	75929457	535	11232											
SOS2	6655	broad.mit.edu	37	14	50666497	50666497	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:50666497A>G	ENST00000216373.5	-	4	696	c.422T>C	c.(421-423)aTt>aCt	p.I141T	SOS2_ENST00000543680.1_Missense_Mutation_p.I141T	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	141					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAATTTTAAAATATCAGCTGA	0.328																																																0													75	80	78					14																	50666497		2203	4294	6497	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.422T>C	14.37:g.50666497A>G	ENSP00000216373:p.Ile141Thr		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398242	0.83120	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.89270	-2.49;-2.49	4.98	4.98	0.66077	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.94912	0.8355	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95754	0.8794	10	0.87932	D	0	.	14.9666	0.71198	1.0:0.0:0.0:0.0	.	141;141	B7ZKT6;Q07890	.;SOS2_HUMAN	T	141	ENSP00000216373:I141T;ENSP00000445328:I141T	ENSP00000216373:I141T	I	-	2	0	SOS2	49736247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.009000	0.58944	0.460000	0.39030	ATT		0.328	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			G	50666497	A	G	50666497	3	3	183	1	0	0	0	0	1	0	0	0	14943	101	4	3	3656	3	SOS2	14	50666497	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	19246414	50666497	56683043	536	11233											
BMP4	652	broad.mit.edu	37	14	54417384	54417384	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:54417384C>T	ENST00000245451.4	-	4	986	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	BMP4_ENST00000417573.1_Missense_Mutation_p.R198Q|BMP4_ENST00000558984.1_Missense_Mutation_p.R198Q|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000559087.1_Missense_Mutation_p.R198Q	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	198					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GTCCAGTAGTCGTGTGATGAG	0.562																																																0													85	81	83					14																	54417384		2203	4300	6503	SO:0001583	missense	652			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.593G>A	14.37:g.54417384C>T	ENSP00000245451:p.Arg198Gln		Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917643	0.73098	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.69806	-0.43;-0.43	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.059641	0.64402	D	0.000002	T	0.64472	0.2601	L	0.45698	1.435	0.45554	D	0.998502	B	0.31625	0.332	B	0.35312	0.2	T	0.64892	-0.6300	10	0.48119	T	0.1	.	17.6708	0.88217	0.0:1.0:0.0:0.0	.	198	P12644	BMP4_HUMAN	Q	198	ENSP00000245451:R198Q;ENSP00000394165:R198Q	ENSP00000245451:R198Q	R	-	2	0	BMP4	53487134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.645000	0.61404	2.653000	0.90120	0.655000	0.94253	CGA		0.562	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		T	54417384	C	T	54417384	3	4	183	1	0	0	0	0	1	0	0	0	1462	884	31	1	637	1	BMP4	14	54417384	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3750887	54417384	52932156	537	11234											
WDHD1	11169	broad.mit.edu	37	14	55411062	55411062	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:55411062A>G	ENST00000360586.3	-	25	3242	c.3177T>C	c.(3175-3177)acT>acC	p.T1059T	WDHD1_ENST00000421192.1_Silent_p.T936T|WDHD1_ENST00000420358.2_Silent_p.T936T|WDHD1_ENST00000359167.4_Silent_p.T577T	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1059					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TTCTTTCTTCAGTTGACAATA	0.328																																																0													133	134	134					14																	55411062		2203	4299	6502	SO:0001819	synonymous_variant	11169			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.3177T>C	14.37:g.55411062A>G			C9JW18|F6W0U7	Silent	SNP	ENST00000360586.3	37	CCDS9721.1																																																																																				0.328	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		G	55411062	A	G	55411062	2	3	183	1	0	0	0	0	0	0	0	1	17276	175	7	3		3	WDHD1	14	55411062	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	993678	55411062	51938478	538	11235											
SPTB	6710	broad.mit.edu	37	14	65240097	65240097	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:65240097T>C	ENST00000389721.5	-	24	5051	c.5019A>G	c.(5017-5019)gcA>gcG	p.A1673A	SPTB_ENST00000389720.3_Silent_p.A1673A|SPTB_ENST00000389722.3_Silent_p.A1673A|SPTB_ENST00000542895.1_Silent_p.A1673A|SPTB_ENST00000556626.1_Silent_p.A1673A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1673					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTTCAGCCCTGCGTAGTGCT	0.572																																																0													125	111	116					14																	65240097		2203	4300	6503	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5019A>G	14.37:g.65240097T>C			Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																				0.572	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			C	65240097	T	C	65240097	2	2	183	1	0	0	0	0	0	0	0	1	15123	1567	55	3		3	SPTB	14	65240097	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	9829035	65240097	42109443	539	11236											
HEATR4	399671	broad.mit.edu	37	14	73987615	73987615	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:73987615G>A	ENST00000553558.1	-	4	1331	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	HEATR4_ENST00000334988.2_Missense_Mutation_p.P337L|RP3-414A15.11_ENST00000553394.1_RNA|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.P290L	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	337										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCCAGCTCGGGGAGTCACCTG	0.532																																																0													164	149	154					14																	73987615		2203	4300	6503	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1010C>T	14.37:g.73987615G>A	ENSP00000450444:p.Pro337Leu		B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	6.512	0.462599	0.12402	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T;T	0.41400	1.0;1.01	5.39	-0.0115	0.13992	.	0.522115	0.17585	N	0.168983	T	0.30039	0.0752	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.24297	-1.0164	10	0.87932	D	0	-0.1981	10.1951	0.43049	0.081:0.5537:0.3653:0.0	.	337	Q86WZ0	HEAT4_HUMAN	L	337;290	ENSP00000450444:P337L;ENSP00000335447:P290L	ENSP00000335447:P290L	P	-	2	0	HEATR4	73057368	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-0.116000	0.10724	-0.299000	0.08909	-0.175000	0.13238	CCC		0.532	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		A	73987615	G	A	73987615	3	1	183	1	0	0	0	0	1	0	0	0	7032	1232	43	2	2130	2	HEATR4	14	73987615	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	8747518	73987615	33361925	540	11237											
C14orf174	161394	broad.mit.edu	37	14	77844713	77844713	+	Silent	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:77844713A>C	ENST00000216471.4	+	1	1238	c.952A>C	c.(952-954)Aga>Cga	p.R318R	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	318										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCACAAGCCAAGAAAGTCTAC	0.433																																																0													82	83	83					14																	77844713		2203	4300	6503	SO:0001819	synonymous_variant	161394			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.952A>C	14.37:g.77844713A>C			Q2M3P3	Silent	SNP	ENST00000216471.4	37	CCDS32126.1																																																																																				0.433	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		C	77844713	A	C	77844713	2	2	183	1	0	0	0	0	0	0	0	1	1761	64	3	5		5	C14orf174	14	77844713	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3857098	77844713	29504827	541	11238											
TSHR	7253	broad.mit.edu	37	14	81609994	81609994	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:81609994G>A	ENST00000541158.2	+	11	1914	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	TSHR_ENST00000298171.2_Missense_Mutation_p.R531Q|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	531					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGCCTGGACCGGAAGATCCGC	0.567			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													474	320	372					14																	81609994		2203	4300	6503	SO:0001583	missense	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1592G>A	14.37:g.81609994G>A	ENSP00000441235:p.Arg531Gln		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712600	0.68730	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.39229	1.09;1.09	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.76433	2.335	0.58432	D	0.999995	D	0.89917	1.0	D	0.66716	0.946	T	0.58482	-0.7629	10	0.30854	T	0.27	.	13.5842	0.61919	0.0746:0.0:0.9254:0.0	.	531	F5GYU5	.	Q	531;178;531	ENSP00000441235:R531Q;ENSP00000298171:R531Q	ENSP00000298171:R531Q	R	+	2	0	TSHR	80679747	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.674000	0.74487	2.562000	0.86427	0.561000	0.74099	CGG		0.567	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		A	81609994	G	A	81609994	3	1	183	1	0	0	0	0	1	0	0	0	16627	1116	39	1	1767	1	TSHR	14	81609994	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	3765281	81609994	25739546	542	11239											
SMEK1	55671	broad.mit.edu	37	14	91927912	91927913	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:91927912_91927913delTT	ENST00000554943.1	-	14	2318_2319	c.2203_2204delAA	c.(2203-2205)aacfs	p.N735fs	SMEK1_ENST00000555462.1_Frame_Shift_Del_p.N496fs|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000554684.1_Frame_Shift_Del_p.N722fs|SMEK1_ENST00000428424.2_Frame_Shift_Del_p.N496fs|SMEK1_ENST00000337238.4_Frame_Shift_Del_p.N722fs			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	735					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)		TCCAGAAAGGTTTGTTTTCAGA	0.421																																																0																																										SO:0001589	frameshift_variant	55671			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.2203_2204delAA	14.37:g.91927912_91927913delTT	ENSP00000450883:p.Asn735fs		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Frame_Shift_Del	DEL	ENST00000554943.1	37																																																																																					0.421	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		-	91927913	TT	-	91927912	7	5	183	1	0	1	0	1	0	0	0	0	14799	1725	60	0	305	0	SMEK1	14	91927912	Frame_Shift_Del	DEL	TT	TCGA-B0-5098-01A-01D-1421-08	10317918	91927912	15421628	543	11240											
KIAA1409	57578	broad.mit.edu	37	14	94088152	94088152	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:94088152C>T	ENST00000393151.2	+	30	4573	c.4573C>T	c.(4573-4575)Cgg>Tgg	p.R1525W	UNC79_ENST00000256339.4_Missense_Mutation_p.R1348W|UNC79_ENST00000555664.1_Missense_Mutation_p.R1525W|UNC79_ENST00000553484.1_Missense_Mutation_p.R1547W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1525					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGCATAGATCGGTGTGACAT	0.453																																																0													96	91	93					14																	94088152		2203	4300	6503	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4573C>T	14.37:g.94088152C>T	ENSP00000376858:p.Arg1525Trp		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	22.5	4.297820	0.81025	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.25250	1.83;1.81;1.84;1.83	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	L	0.32530	0.975	0.54753	D	0.999982	D	0.71674	0.998	P	0.53224	0.721	T	0.03077	-1.1075	10	0.72032	D	0.01	-20.337	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1547	C9JQL1	.	W	1348;1525;1547;1525;1547	ENSP00000256339:R1348W;ENSP00000450868:R1525W;ENSP00000451360:R1547W;ENSP00000376858:R1525W	ENSP00000256339:R1348W	R	+	1	2	KIAA1409	93157905	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.656000	0.67988	2.847000	0.97988	0.591000	0.81541	CGG		0.453	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94088152	C	T	94088152	3	4	183	1	0	0	0	0	1	0	0	0	8232	875	31	1	4148	1	KIAA1409	14	94088152	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2160240	94088152	13261388	544	11241											
HHIPL1	84439	broad.mit.edu	37	14	100129284	100129284	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:100129284G>A	ENST00000330710.5	+	6	1672	c.1574G>A	c.(1573-1575)gGc>gAc	p.G525D	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G525D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	525					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ATGGGCCACGGCCAGACCTGT	0.582																																																0													110	92	98					14																	100129284		2203	4300	6503	SO:0001583	missense	84439			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1574G>A	14.37:g.100129284G>A	ENSP00000330601:p.Gly525Asp		A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073817	0.55646	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.11169	2.8;2.8	4.87	4.87	0.63330	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	N	0.11673	0.155	0.80722	D	1	B;B	0.24721	0.11;0.009	B;B	0.33196	0.159;0.03	T	0.38542	-0.9656	10	0.30078	T	0.28	.	18.0427	0.89323	0.0:0.0:1.0:0.0	.	525;525	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	D	525	ENSP00000330601:G525D;ENSP00000349757:G525D	ENSP00000330601:G525D	G	+	2	0	HHIPL1	99199037	1.000000	0.71417	0.995000	0.50966	0.862000	0.49288	7.850000	0.86915	2.267000	0.75376	0.655000	0.94253	GGC		0.582	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		A	100129284	G	A	100129284	3	1	183	1	0	0	0	0	1	0	0	0	7095	1203	42	2	1596	2	HHIPL1	14	100129284	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	6041132	100129284	7220256	545	11242											
AHNAK2	113146	broad.mit.edu	37	14	105421090	105421090	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr14:105421090A>G	ENST00000333244.5	-	7	817	c.698T>C	c.(697-699)cTg>cCg	p.L233P	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	233						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCTCCTTCCAGAGTTTTCGT	0.562																																																0													31	32	32					14																	105421090		1907	4126	6033	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.698T>C	14.37:g.105421090A>G	ENSP00000353114:p.Leu233Pro		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	10.49	1.364740	0.24684	.	.	ENSG00000185567	ENST00000333244	T	0.02916	4.11	5.1	1.47	0.22746	.	1.775830	0.04498	U	0.380739	T	0.09158	0.0226	L	0.48642	1.525	0.09310	N	1	D	0.69078	0.997	D	0.66497	0.944	T	0.32025	-0.9922	10	0.35671	T	0.21	.	6.4148	0.21710	0.5736:0.0:0.4264:0.0	.	233	Q8IVF2	AHNK2_HUMAN	P	233	ENSP00000353114:L233P	ENSP00000353114:L233P	L	-	2	0	AHNAK2	104492135	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.016000	0.13377	0.369000	0.24510	0.455000	0.32223	CTG		0.562	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105421090	A	G	105421090	3	3	183	1	0	0	0	0	1	0	0	0	415	188	7	3	16693	3	AHNAK2	14	105421090	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	5291806	105421090	1928450	546	11243											
CYFIP1	23191	broad.mit.edu	37	15	22955133	22955133	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:22955133T>C	ENST00000313077.7	+	15	1652	c.1527T>C	c.(1525-1527)agT>agC	p.S509S	CYFIP1_ENST00000435939.2_5'Flank|CYFIP1_ENST00000560848.1_Splice_Site_p.S509S	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGGTGTTCAGTGTCCTGCAGG	0.602																																																0													76	72	73					15																	22955133		2203	4300	6503	SO:0001630	splice_region_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1527-1T>C	15.37:g.22955133T>C				Splice_Site	SNP	ENST00000313077.7	37	CCDS10009.1																																																																																				0.602	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608	Silent	C	22955133	T	C	22955133	5	2	183	1	0	0	0	0	0	0	1	0	4139	1710	59	3	1581	3	CYFIP1	15	22955133	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08		22955133	79576259	547	11244											
ATP10A	57194	broad.mit.edu	37	15	25966975	25966975	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:25966975A>G	ENST00000356865.6	-	7	1303	c.1192T>C	c.(1192-1194)Ttg>Ctg	p.L398L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	398					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCGTCATACAACTGCATGTCC	0.428																																																0													136	124	128					15																	25966975		2203	4300	6503	SO:0001819	synonymous_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1192T>C	15.37:g.25966975A>G			Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.428	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		G	25966975	A	G	25966975	2	3	183	1	0	0	0	0	0	0	0	1	1116	40	2	3		3	ATP10A	15	25966975	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3011842	25966975	76564417	548	11245											
DISP2	85455	broad.mit.edu	37	15	40661343	40661343	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:40661343C>T	ENST00000267889.3	+	8	3117	c.3030C>T	c.(3028-3030)ctC>ctT	p.L1010L	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1010					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGTTCTCCTCGAGTGGCAGC	0.587																																																0													69	62	64					15																	40661343		2203	4300	6503	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3030C>T	15.37:g.40661343C>T			Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																				0.587	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		T	40661343	C	T	40661343	2	4	183	1	0	0	0	0	0	0	0	1	4542	871	31	1		1	DISP2	15	40661343	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	14694368	40661343	61870049	549	11246											
DNAJC17	55192	broad.mit.edu	37	15	41067229	41067231	+	Splice_Site	DEL	CTT	CTT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:41067229_41067231delCTT	ENST00000220496.4	-	8	628_630	c.598_600delAAG	c.(598-600)aagdel	p.K200del		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	200	RRM.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CAGGGCCGACCTTCTGCAAAAGC	0.488																																																0																																										SO:0001630	splice_region_variant	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.600+1AAG>-	15.37:g.41067229_41067231delCTT				Splice_Site	DEL	ENST00000220496.4	37	CCDS10065.1																																																																																				0.488	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163	In_Frame_Del	-	41067231	CTT	-	41067229	8	5	183	1	0	1	0	1	0	0	1	0	4638	695	24	0	330	0	DNAJC17	15	41067229	Splice_Site	DEL	CTT	TCGA-B0-5098-01A-01D-1421-08	405886	41067229	61464163	550	11247											
VPS18	57617	broad.mit.edu	37	15	41192359	41192359	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:41192359T>C	ENST00000220509.5	+	4	1682	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	448					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGCTATGCCCTGACCCAGAGC	0.622																																																0													58	62	61					15																	41192359		2203	4300	6503	SO:0001583	missense	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1343T>C	15.37:g.41192359T>C	ENSP00000220509:p.Leu448Pro		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696112	0.30052	.	.	ENSG00000104142	ENST00000220509	T	0.23147	1.92	5.06	3.91	0.45181	.	0.066174	0.64402	D	0.000007	T	0.24198	0.0586	M	0.63428	1.95	0.80722	D	1	P	0.43826	0.818	B	0.36335	0.222	T	0.03130	-1.1069	10	0.45353	T	0.12	-13.1417	11.26	0.49078	0.1371:0.0:0.0:0.8629	.	448	Q9P253	VPS18_HUMAN	P	448	ENSP00000220509:L448P	ENSP00000220509:L448P	L	+	2	0	VPS18	38979651	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.118000	0.64673	0.842000	0.35045	0.459000	0.35465	CTG		0.622	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			C	41192359	T	C	41192359	3	2	183	1	0	0	0	0	1	0	0	0	17199	1580	55	3	1357	3	VPS18	15	41192359	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	125130	41192359	61339033	551	11248											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	15	42132730	42132730	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:42132730T>C	ENST00000452633.1	+	4	443	c.91T>C	c.(91-93)Tct>Cct	p.S31P	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S31P|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.S262P|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.S262P|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S262P			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	31	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		AGTGACCCCCTCTGACTGCTA	0.622																																																0													66	69	68					15																	42132730		2203	4300	6503	SO:0001583	missense	8681			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.91T>C	15.37:g.42132730T>C	ENSP00000396045:p.Ser31Pro		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.763217	0.31228	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.04	1.42	0.22433	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.463445	0.21983	N	0.066264	T	0.66237	0.2769	M	0.78285	2.405	0.38110	D	0.937526	B;B;B	0.18461	0.01;0.004;0.028	B;B;B	0.22152	0.038;0.011;0.011	T	0.58476	-0.7630	10	0.29301	T	0.29	-12.1795	7.6173	0.28165	0.0:0.338:0.0:0.662	.	31;262;262	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	P	262;262;31;31	ENSP00000371886:S262P;ENSP00000342785:S262P;ENSP00000416610:S31P;ENSP00000396045:S31P	ENSP00000342785:S262P	S	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39920022	0.114000	0.22134	0.999000	0.59377	0.460000	0.32559	0.210000	0.17455	0.134000	0.18681	0.533000	0.62120	TCT		0.622	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		C	42132730	T	C	42132730	3	2	183	1	0	0	0	0	1	0	0	0	7957	1551	54	3	814	3	JMJD7-PLA2G4B	15	42132730	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	940371	42132730	60398662	552	11249											
PLA2G4D	283748	broad.mit.edu	37	15	42364521	42364521	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:42364521A>T	ENST00000290472.3	-	14	1481	c.1387T>A	c.(1387-1389)Ttg>Atg	p.L463M		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	463	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TTGAGGCTCAAGTAGAGGGGC	0.567																																																0													190	180	184					15																	42364521		2203	4299	6502	SO:0001583	missense	283748			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1387T>A	15.37:g.42364521A>T	ENSP00000290472:p.Leu463Met		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.783600	0.70222	.	.	ENSG00000159337	ENST00000290472	T	0.12039	2.72	5.19	0.0231	0.14135	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.227300	0.29451	N	0.012107	T	0.32164	0.0820	M	0.77103	2.36	0.32844	D	0.505779	D	0.89917	1.0	D	0.76071	0.987	T	0.38693	-0.9649	10	0.49607	T	0.09	-10.5939	9.9536	0.41653	0.5666:0.0:0.4334:0.0	.	463	Q86XP0	PA24D_HUMAN	M	463	ENSP00000290472:L463M	ENSP00000290472:L463M	L	-	1	2	PLA2G4D	40151813	0.017000	0.18338	0.998000	0.56505	0.957000	0.61999	-0.988000	0.03739	-0.009000	0.14296	-0.266000	0.10368	TTG		0.567	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		T	42364521	A	T	42364521	3	4	183	1	0	0	0	0	1	0	0	0	12006	69	3	5	1097	5	PLA2G4D	15	42364521	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	231791	42364521	60166871	553	11250											
ZSCAN29	146050	broad.mit.edu	37	15	43656464	43656464	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:43656464C>T	ENST00000396976.2	-	4	1473	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.E446K	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	447					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CATAACCTCTCAGCCACTGCT	0.488																																																0													100	96	97					15																	43656464		2201	4299	6500	SO:0001583	missense	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1339G>A	15.37:g.43656464C>T	ENSP00000380174:p.Glu447Lys		B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	14.90	2.671982	0.47781	.	.	ENSG00000140265	ENST00000396976	T	0.42131	0.98	5.22	4.3	0.51218	.	0.083637	0.51477	N	0.000084	T	0.42177	0.1191	L	0.60957	1.885	0.80722	D	1	B;P	0.36199	0.05;0.543	B;B	0.39660	0.094;0.306	T	0.33137	-0.9880	10	0.62326	D	0.03	-8.0512	9.9893	0.41860	0.0:0.7803:0.1391:0.0806	.	446;447	C9K0J8;Q8IWY8	.;ZSC29_HUMAN	K	447	ENSP00000380174:E447K	ENSP00000380174:E447K	E	-	1	0	ZSCAN29	41443756	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.192000	0.42649	0.793000	0.33875	-0.797000	0.03246	GAG		0.488	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		T	43656464	C	T	43656464	3	4	183	1	0	0	0	0	1	0	0	0	18241	835	29	2	1227	2	ZSCAN29	15	43656464	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1291943	43656464	58874928	554	11251											
SPG11	80208	broad.mit.edu	37	15	44888371	44888371	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:44888371G>A	ENST00000261866.7	-	25	4360	c.4344C>T	c.(4342-4344)tgC>tgT	p.C1448C	SPG11_ENST00000427534.2_Silent_p.C1448C|SPG11_ENST00000558319.1_Silent_p.C1448C|SPG11_ENST00000535302.2_Silent_p.C1448C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1448					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCTCCTCTGAGCATTGGAGCA	0.498																																																0													97	95	96					15																	44888371		2198	4298	6496	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4344C>T	15.37:g.44888371G>A			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.498	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			A	44888371	G	A	44888371	2	1	183	1	0	0	0	0	0	0	0	1	15046	963	34	2		2	SPG11	15	44888371	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1231907	44888371	57643021	555	11252											
CEP152	22995	broad.mit.edu	37	15	49076301	49076301	+	Missense_Mutation	SNP	C	C	T	rs201569877		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:49076301C>T	ENST00000380950.2	-	10	1377	c.1190G>A	c.(1189-1191)cGt>cAt	p.R397H	RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000399334.3_Missense_Mutation_p.R397H|CEP152_ENST00000325747.5_Missense_Mutation_p.R304H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	397					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATCTTTCAGACGAGAGCAAAT	0.303																																																0								C	HIS/ARG,HIS/ARG	0,3680		0,0,1840	88	79	82		1190,1190	-2.4	0.3	15		82	1,8151		0,1,4075	no	missense,missense	CEP152	NM_001194998.1,NM_014985.3	29,29	0,1,5915	TT,TC,CC		0.0123,0.0,0.0085	benign,benign	397/1711,397/1655	49076301	1,11831	1840	4076	5916	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1190G>A	15.37:g.49076301C>T	ENSP00000370337:p.Arg397His		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	5.596	0.294713	0.10567	0.0	1.23E-4	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.78707	-1.2;-1.2;-1.2	5.23	-2.42	0.06542	.	0.520042	0.21633	N	0.071460	T	0.57519	0.2059	N	0.13003	0.285	0.24335	N	0.994989	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.44112	-0.9349	10	0.31617	T	0.26	-2.0912	12.9813	0.58567	0.0:0.6157:0.0:0.3843	.	304;397;397	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	H	397;304;397;397	ENSP00000370337:R397H;ENSP00000321000:R304H;ENSP00000382271:R397H	ENSP00000321000:R304H	R	-	2	0	CEP152	46863593	0.830000	0.29337	0.318000	0.25279	0.164000	0.22412	-0.201000	0.09464	-0.283000	0.09115	-0.670000	0.03821	CGT		0.303	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		T	49076301	C	T	49076301	3	4	183	1	0	0	0	0	1	0	0	0	3250	536	19	1	3842	1	CEP152	15	49076301	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	4187930	49076301	53455091	556	11253											
USP50	373509	broad.mit.edu	37	15	50833262	50833262	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:50833262T>C	ENST00000532404.1	-	4	817	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	220	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GGAGCATTCATATTTGGATGG	0.443																																																0													111	104	106					15																	50833262		1915	4131	6046	SO:0001583	missense	373509			AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"Ubiquitin-specific peptidases"	20079	protein-coding gene	gene with protein product			"ubiquitin specific protease 50"			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.644A>G	15.37:g.50833262T>C	ENSP00000434676:p.Tyr215Cys		E9PP86	Missense_Mutation	SNP	ENST00000532404.1	37	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	T	3.470	-0.108162	0.06924	.	.	ENSG00000170236	ENST00000532404	T	0.29655	1.56	5.45	1.36	0.22044	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.502550	0.21003	N	0.081832	T	0.23210	0.0561	L	0.49571	1.57	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.16541	-1.0399	10	0.41790	T	0.15	-8.2401	5.0162	0.14337	0.0:0.1767:0.2944:0.5289	.	220	Q70EL3	UBP50_HUMAN	C	215	ENSP00000434676:Y215C	ENSP00000434676:Y215C	Y	-	2	0	USP50	48620554	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	0.140000	0.16056	0.344000	0.23847	0.459000	0.35465	TAT		0.443	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			C	50833262	T	C	50833262	3	2	183	1	0	0	0	0	1	0	0	0	17087	1406	49	3	376	3	USP50	15	50833262	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1756961	50833262	51698130	557	11254											
TNFAIP8L3	388121	broad.mit.edu	37	15	51397273	51397273	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:51397273C>T	ENST00000327536.5	-	1	200	c.101G>A	c.(100-102)gGc>gAc	p.G34D	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	34										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ATCCCTTGTGCCTTGGGTCCC	0.527																																																0													272	213	233					15																	51397273		2196	4293	6489	SO:0001583	missense	388121			AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.101G>A	15.37:g.51397273C>T	ENSP00000328016:p.Gly34Asp		Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049701	0.36181	.	.	ENSG00000183578	ENST00000327536	T	0.34859	1.34	3.15	1.12	0.20585	.	.	.	.	.	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.20907	-1.0261	9	0.87932	D	0	.	4.0908	0.09968	0.0:0.6147:0.2458:0.1394	.	34	Q5GJ75	TP8L3_HUMAN	D	34	ENSP00000328016:G34D	ENSP00000328016:G34D	G	-	2	0	TNFAIP8L3	49184565	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.021000	0.13489	0.317000	0.23160	0.544000	0.68410	GGC		0.527	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381		T	51397273	C	T	51397273	3	4	183	1	0	0	0	0	1	0	0	0	16284	739	26	2	789	2	TNFAIP8L3	15	51397273	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	564011	51397273	51134119	558	11255											
WDR72	256764	broad.mit.edu	37	15	53907852	53907852	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:53907852T>C	ENST00000396328.1	-	15	2790	c.2551A>G	c.(2551-2553)Agt>Ggt	p.S851G	WDR72_ENST00000559418.1_Missense_Mutation_p.S861G|WDR72_ENST00000557913.1_Missense_Mutation_p.S848G|WDR72_ENST00000360509.5_Missense_Mutation_p.S851G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	851										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATCATTCCACTATTGCATAAA	0.353																																																0													56	58	57					15																	53907852		2193	4291	6484	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2551A>G	15.37:g.53907852T>C	ENSP00000379619:p.Ser851Gly		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	T	3.125	-0.179793	0.06380	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35048	1.33;1.33	5.72	-6.49	0.01890	.	1.029790	0.07672	N	0.935564	T	0.10981	0.0268	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22277	-1.0221	10	0.22109	T	0.4	.	0.2229	0.00170	0.3598:0.1852:0.1953:0.2596	.	851	Q3MJ13	WDR72_HUMAN	G	851	ENSP00000379619:S851G;ENSP00000353699:S851G	ENSP00000353699:S851G	S	-	1	0	WDR72	51695144	0.000000	0.05858	0.000000	0.03702	0.461000	0.32589	-1.193000	0.03049	-0.656000	0.05380	-0.333000	0.08304	AGT		0.353	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		C	53907852	T	C	53907852	3	2	183	1	0	0	0	0	1	0	0	0	17327	1522	53	3	781	3	WDR72	15	53907852	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2510579	53907852	48623540	559	11256											
PYGO1	26108	broad.mit.edu	37	15	55841138	55841138	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:55841138T>C	ENST00000302000.6	-	2	199	c.105A>G	c.(103-105)ccA>ccG	p.P35P	PYGO1_ENST00000563719.1_Silent_p.P35P	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	35					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTTTCTTATCTGGGCTTCCTA	0.368																																																0													162	158	159					15																	55841138		2193	4292	6485	SO:0001819	synonymous_variant	26108			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.105A>G	15.37:g.55841138T>C			A7Y2D6	Silent	SNP	ENST00000302000.6	37	CCDS10155.1																																																																																				0.368	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		C	55841138	T	C	55841138	2	2	183	1	0	0	0	0	0	0	0	1	12869	1567	55	3		3	PYGO1	15	55841138	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1933286	55841138	46690254	560	11257											
DENND4A	10260	broad.mit.edu	37	15	65962172	65962172	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:65962172C>T	ENST00000431932.2	-	26	4808	c.4600G>A	c.(4600-4602)Gcc>Acc	p.A1534T	DENND4A_ENST00000443035.3_Missense_Mutation_p.A1577T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1534					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGACCAGAGGCTGATGTTGAA	0.358																																																0													122	115	117					15																	65962172		1888	4117	6005	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4600G>A	15.37:g.65962172C>T	ENSP00000396830:p.Ala1534Thr		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	7.955	0.745808	0.15710	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05139	3.51;3.49	5.64	3.76	0.43208	.	0.885655	0.09835	N	0.749714	T	0.04318	0.0119	N	0.19112	0.55	0.33661	D	0.609738	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.24012	-1.0172	10	0.10377	T	0.69	.	7.8926	0.29686	0.0:0.7293:0.0:0.2707	.	1577;1534	E7EPL3;Q7Z401	.;MYCPP_HUMAN	T	1577;1534	ENSP00000391167:A1577T;ENSP00000396830:A1534T	ENSP00000396830:A1534T	A	-	1	0	DENND4A	63749226	0.997000	0.39634	1.000000	0.80357	0.168000	0.22595	1.342000	0.33919	1.392000	0.46585	0.650000	0.86243	GCC		0.358	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		T	65962172	C	T	65962172	3	4	183	1	0	0	0	0	1	0	0	0	4435	797	28	2	1019	2	DENND4A	15	65962172	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	10121034	65962172	36569220	561	11258											
DIS3L	115752	broad.mit.edu	37	15	66618704	66618704	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:66618704T>C	ENST00000319212.4	+	12	2251		c.e12+2		RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319194.5_Splice_Site	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease						RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.?(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGATACACGGTATTCCTCTTT	0.458																																																1	Unknown(1)	ovary(1)											29	31	30					15																	66618704		2183	4281	6464	SO:0001630	splice_region_variant	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2201+2T>C	15.37:g.66618704T>C			Q8N1N8|Q8WTU9|Q96CM7	Splice_Site	SNP	ENST00000319212.4	37	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116452	0.56505	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.814	0.63281	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIS3L	64405758	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.238000	0.72350	2.029000	0.59856	0.379000	0.24179	.		0.458	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	Intron	C	66618704	T	C	66618704	5	2	183	1	0	0	0	0	0	0	1	0	4538	1652	57	3	2249	3	DIS3L	15	66618704	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	656532	66618704	35912688	562	11259											
SNAPC5	10302	broad.mit.edu	37	15	66790065	66790065	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:66790065A>G	ENST00000316634.5	-	1	86	c.5T>C	c.(4-6)cTg>cCg	p.L2P	SNAPC5_ENST00000563480.2_Missense_Mutation_p.L2P|SNAPC5_ENST00000566658.1_Missense_Mutation_p.L2P|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000395589.2_Missense_Mutation_p.L2P|SNAPC5_ENST00000307979.7_Missense_Mutation_p.L2P			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	2					gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2						AAGCCGGCTCAGCATGTTGCC	0.682											OREG0023204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													59	51	54					15																	66790065		2201	4299	6500	SO:0001583	missense	10302			AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"small nuclear RNA activating complex, polypeptide 5, 19kD"			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000316634.5:c.5T>C	15.37:g.66790065A>G	ENSP00000319597:p.Leu2Pro	1094	A8K7N6|Q96CF3	Missense_Mutation	SNP	ENST00000316634.5	37	CCDS10217.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354360	0.41700	.	.	ENSG00000174446	ENST00000395589;ENST00000316634;ENST00000307979	.	.	.	5.19	5.19	0.71726	.	0.079872	0.49916	D	0.000140	T	0.79839	0.4515	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83123	-0.0117	8	0.87932	D	0	-8.2125	14.7237	0.69326	1.0:0.0:0.0:0.0	.	2	O75971	SNPC5_HUMAN	P	2	.	ENSP00000308439:L2P	L	-	2	0	SNAPC5	64577119	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.642000	0.54367	1.956000	0.56807	0.528000	0.53228	CTG		0.682	SNAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256905.2			G	66790065	A	G	66790065	3	3	183	1	0	0	0	0	1	0	0	0	14844	188	7	3	303	3	SNAPC5	15	66790065	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	171361	66790065	35741327	563	11260											
CORO2B	10391	broad.mit.edu	37	15	69011755	69011755	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:69011755C>T	ENST00000566799.1	+	11	1204	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	CORO2B_ENST00000261861.5_Missense_Mutation_p.P387L|CORO2B_ENST00000540068.1_Missense_Mutation_p.P387L|CORO2B_ENST00000543950.1_Missense_Mutation_p.P387L			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	392					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCTTTAGATCCCGTGCTGATG	0.478																																																0													159	149	152					15																	69011755		2200	4298	6498	SO:0001583	missense	10391			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1175C>T	15.37:g.69011755C>T	ENSP00000454783:p.Pro392Leu		A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636337	0.87760	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.33438	1.41;1.41	5.49	5.49	0.81192	Domain of unknown function DUF1900 (1);	0.653435	0.15405	N	0.264092	T	0.58836	0.2150	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.60120	-0.7325	10	0.87932	D	0	-13.496	17.9208	0.88965	0.0:1.0:0.0:0.0	.	392	Q9UQ03	COR2B_HUMAN	L	392;387;387	ENSP00000446250:P387L;ENSP00000443819:P387L	ENSP00000261861:P392L	P	+	2	0	CORO2B	66798809	1.000000	0.71417	0.992000	0.48379	0.880000	0.50808	7.364000	0.79526	2.582000	0.87167	0.462000	0.41574	CCC		0.478	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		T	69011755	C	T	69011755	3	4	183	1	0	0	0	0	1	0	0	0	3759	623	22	2	1217	2	CORO2B	15	69011755	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2221690	69011755	33519637	564	11261											
STOML1	9399	broad.mit.edu	37	15	74281026	74281026	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:74281026C>A	ENST00000316900.5	-	4	632	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	STOML1_ENST00000561656.1_Missense_Mutation_p.A83S|STOML1_ENST00000359750.4_Missense_Mutation_p.A170S|STOML1_ENST00000541638.1_Missense_Mutation_p.A128S|STOML1_ENST00000316911.6_Missense_Mutation_p.A120S|STOML1_ENST00000564777.1_Missense_Mutation_p.A120S	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	170						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCGTTCTGGGCTGTCATGCGT	0.607																																																0													116	102	107					15																	74281026		2198	4297	6495	SO:0001583	missense	9399			Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"stomatin-like 1", "stomatin (EBP72)-like 1"	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.508G>T	15.37:g.74281026C>A	ENSP00000319323:p.Ala170Ser		B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684523	0.88639	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	4.34	4.34	0.51931	.	0.051278	0.85682	D	0.000000	D	0.95806	0.8635	L	0.49640	1.575	0.80722	D	1	D;P;D;P;D;D	0.71674	0.998;0.843;0.957;0.843;0.998;0.998	D;P;P;P;D;D	0.71870	0.975;0.462;0.709;0.462;0.975;0.975	D	0.95671	0.8723	10	0.49607	T	0.09	-22.4911	15.6083	0.76692	0.0:1.0:0.0:0.0	.	128;170;120;170;170;170	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	S	170;120;128;170	ENSP00000319323:A170S;ENSP00000319384:A120S;ENSP00000442478:A128S;ENSP00000352788:A170S	ENSP00000319323:A170S	A	-	1	0	STOML1	72068079	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	6.716000	0.74702	2.250000	0.74265	0.655000	0.94253	GCC		0.607	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		A	74281026	C	A	74281026	3	1	183	1	0	0	0	0	1	0	0	0	15318	797	28	4	704	4	STOML1	15	74281026	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	5269271	74281026	28250366	565	11262											
PML	5371	broad.mit.edu	37	15	74315449	74315449	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:74315449C>T	ENST00000268058.3	+	3	979	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	PML_ENST00000359928.4_Missense_Mutation_p.R295C|PML_ENST00000564428.1_Missense_Mutation_p.R295C|PML_ENST00000569477.1_Missense_Mutation_p.R295C|PML_ENST00000435786.2_Missense_Mutation_p.R295C|PML_ENST00000563500.1_Missense_Mutation_p.R295C|PML_ENST00000569161.1_3'UTR|PML_ENST00000395135.3_Missense_Mutation_p.R295C|PML_ENST00000268059.6_Missense_Mutation_p.R295C|PML_ENST00000565898.1_Missense_Mutation_p.R295C|PML_ENST00000436891.3_Missense_Mutation_p.R295C|PML_ENST00000567543.1_Missense_Mutation_p.R295C|PML_ENST00000569965.1_Missense_Mutation_p.R295C|PML_ENST00000395132.2_Missense_Mutation_p.R295C|PML_ENST00000354026.6_Missense_Mutation_p.R295C	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	295					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGCTCAGGAGCGCGAGCTGCT	0.731			T	"RARA, PAX5"	"APL, ALL"																																		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													17	20	19					15																	74315449		2170	4247	6417	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.883C>T	15.37:g.74315449C>T	ENSP00000268058:p.Arg295Cys		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751585	0.49257	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T;T;T	0.49139	1.67;0.79;1.67	5.06	-1.2	0.09554	.	1.818660	0.03150	N	0.167838	T	0.60741	0.2292	L	0.55481	1.735	0.19775	N	0.99995	D;D;D;P;P;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.961;0.9;0.9;0.976;0.999;1.0;0.998;0.998;0.999;1.0;1.0	P;P;P;P;B;P;P;P;P;P;P;P;D	0.63033	0.899;0.873;0.718;0.51;0.408;0.502;0.828;0.791;0.799;0.711;0.736;0.899;0.91	T	0.52975	-0.8503	10	0.72032	D	0.01	-6.0424	8.5625	0.33520	0.5634:0.2145:0.222:0.0	.	295;245;295;295;295;295;295;295;295;295;295;295;298	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	C	295	ENSP00000353004:R295C;ENSP00000268058:R295C;ENSP00000378564:R295C	ENSP00000268058:R295C	R	+	1	0	PML	72102502	0.002000	0.14202	0.035000	0.18076	0.459000	0.32528	-0.245000	0.08890	-0.082000	0.12640	-0.475000	0.04921	CGC		0.731	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		T	74315449	C	T	74315449	3	4	183	1	0	0	0	0	1	0	0	0	12137	768	27	1	893	1	PML	15	74315449	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	34423	74315449	28215943	566	11263											
AGBL1	123624	broad.mit.edu	37	15	86806023	86806023	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:86806023A>G	ENST00000441037.2	+	9	941	c.846A>G	c.(844-846)gaA>gaG	p.E282E	AGBL1_ENST00000389298.3_Silent_p.E13E|AGBL1_ENST00000421325.2_Silent_p.E282E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	282	Asp-rich.				C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGACTTGGAAACAGACGTGA	0.428																																																0													136	137	136					15																	86806023		1951	4147	6098	SO:0001819	synonymous_variant	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.846A>G	15.37:g.86806023A>G			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																				0.428	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		G	86806023	A	G	86806023	2	3	183	1	0	0	0	0	0	0	0	1	375	11	1	3		3	AGBL1	15	86806023	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	12490574	86806023	15725369	567	11264											
DET1	55070	broad.mit.edu	37	15	89056277	89056277	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:89056277A>G	ENST00000268148.8	-	5	1703	c.1558T>C	c.(1558-1560)Ttc>Ctc	p.F520L	DET1_ENST00000444300.1_Missense_Mutation_p.F531L|RP11-97O12.7_ENST00000606219.1_RNA|DET1_ENST00000564406.1_Missense_Mutation_p.F531L	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	520						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TGAAAGGTGAAGGCAACAAGG	0.532																																																0													85	83	83					15																	89056277		2006	4172	6178	SO:0001583	missense	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1558T>C	15.37:g.89056277A>G	ENSP00000268148:p.Phe520Leu		B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.044181	0.93685	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75634	-0.3250	9	0.52906	T	0.07	-28.9848	11.1565	0.48491	0.9288:0.0:0.0712:0.0	.	520;531	Q7L5Y6;B3KNN6	DET1_HUMAN;.	L	531;520	.	ENSP00000268148:F520L	F	-	1	0	DET1	86857281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.078000	0.94023	1.067000	0.40740	0.533000	0.62120	TTC		0.532	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		G	89056277	A	G	89056277	3	3	183	1	0	0	0	0	1	0	0	0	4452	72	3	3	98	3	DET1	15	89056277	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2250254	89056277	13475115	568	11265											
RHCG	51458	broad.mit.edu	37	15	90021181	90021181	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:90021181C>T	ENST00000268122.4	-	6	930	c.862G>A	c.(862-864)Gca>Aca	p.A288T	RHCG_ENST00000544600.1_Missense_Mutation_p.A288T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	288					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					ACCCCTCCTGCGAGCGTGGCA	0.632																																																0													53	52	52					15																	90021181		2200	4299	6499	SO:0001583	missense	51458			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.862G>A	15.37:g.90021181C>T	ENSP00000268122:p.Ala288Thr		A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038877	0.93630	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.47869	0.83;0.83	6.08	5.15	0.70609	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.80984	0.4729	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.88998	0.3419	9	.	.	.	-17.5515	17.3022	0.87185	0.0:0.8746:0.1254:0.0	.	288;288	A8K4D4;Q9UBD6	.;RHCG_HUMAN	T	288;288;279	ENSP00000438123:A288T;ENSP00000268122:A288T	.	A	-	1	0	RHCG	87822185	1.000000	0.71417	0.129000	0.21949	0.805000	0.45488	7.778000	0.85637	1.546000	0.49388	0.655000	0.94253	GCA		0.632	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		T	90021181	C	T	90021181	3	4	183	1	0	0	0	0	1	0	0	0	13332	768	27	1	597	1	RHCG	15	90021181	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	964904	90021181	12510211	569	11266											
FES	2242	broad.mit.edu	37	15	91428282	91428282	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr15:91428282T>C	ENST00000328850.3	+	2	149	c.7T>C	c.(7-9)Ttc>Ctc	p.F3L	FES_ENST00000394302.1_Missense_Mutation_p.F3L|FES_ENST00000394300.3_Missense_Mutation_p.F3L|FES_ENST00000414248.2_Missense_Mutation_p.F3L|FES_ENST00000444422.2_Missense_Mutation_p.F3L|FES_ENST00000450438.2_Missense_Mutation_p.F3L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	3	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACTATGGGCTTCTCTTCCGA	0.627																																																0													107	119	115					15																	91428282		2198	4298	6496	SO:0001583	missense	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.7T>C	15.37:g.91428282T>C	ENSP00000331504:p.Phe3Leu		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690877	0.88735	.	.	ENSG00000182511	ENST00000416779;ENST00000328850;ENST00000414248;ENST00000394302;ENST00000452243;ENST00000443697;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T;T;T;T	0.57436	0.4;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	4.89	4.89	0.63831	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.76170	2.325	0.44006	D	0.996711	D;D;D;D;D;D	0.76494	0.999;0.982;0.985;0.999;0.993;0.999	D;D;D;D;D;D	0.87578	0.998;0.961;0.977;0.997;0.981;0.998	T	0.74674	-0.3586	10	0.56958	D	0.05	-30.6833	14.3824	0.66921	0.0:0.0:0.0:1.0	.	3;3;3;3;3;3	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	L	3	ENSP00000410477:F3L;ENSP00000331504:F3L;ENSP00000414629:F3L;ENSP00000377839:F3L;ENSP00000392696:F3L;ENSP00000395425:F3L;ENSP00000400868:F3L;ENSP00000377837:F3L;ENSP00000409915:F3L	ENSP00000331504:F3L	F	+	1	0	FES	89229286	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	7.011000	0.76359	2.074000	0.62210	0.529000	0.55759	TTC		0.627	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		C	91428282	T	C	91428282	3	2	183	1	0	0	0	0	1	0	0	0	5822	1609	56	3	9	3	FES	15	91428282	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1407101	91428282	11103110	570	11267											
PDIA2	64714	broad.mit.edu	37	16	336667	336667	+	Missense_Mutation	SNP	G	G	A	rs371087103		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:336667G>A	ENST00000219406.6	+	9	1372	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	PDIA2_ENST00000404312.1_Missense_Mutation_p.E449K	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	452	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CACGGCCAACGAGCTGGATGC	0.612													g|||	1	0.000199681	0.0	0.0	5008	,	,		17217	0.0		0.0	False		,,,				2504	0.001															0													43	46	45					16																	336667		2158	4240	6398	SO:0001583	missense	64714			U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1354G>A	16.37:g.336667G>A	ENSP00000219406:p.Glu452Lys		A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	g	19.96	3.922965	0.73213	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312;ENST00000435833	T;T;T	0.17370	2.28;2.28;3.97	4.58	4.58	0.56647	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.058122	0.64402	D	0.000002	T	0.37019	0.0988	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17745	-1.0359	10	0.87932	D	0	.	16.156	0.81666	0.0:0.0:1.0:0.0	.	452	Q13087	PDIA2_HUMAN	K	452;421;449;81	ENSP00000219406:E452K;ENSP00000384410:E449K;ENSP00000405081:E81K	ENSP00000219406:E452K	E	+	1	0	PDIA2	276668	1.000000	0.71417	0.974000	0.42286	0.184000	0.23303	7.761000	0.85260	2.116000	0.64780	0.486000	0.48141	GAG		0.612	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		A	336667	G	A	336667	3	1	183	1	0	0	0	0	1	0	0	0	11670	1059	37	1	1388	1	PDIA2	16	336667	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08		336667	90018086	571	11268											
TBL3	10607	broad.mit.edu	37	16	2026055	2026055	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:2026055A>G	ENST00000568546.1	+	12	1257		c.e12-1			NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3						G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						ACAACATCTCAGATATCGTCC	0.642																																					Melanoma(118;616 1651 35077 38081 48633)											0													135	131	133					16																	2026055		2198	4300	6498	SO:0001630	splice_region_variant	10607			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1130-1A>G	16.37:g.2026055A>G			Q59GD6|Q8IVB7|Q96A78	Splice_Site	SNP	ENST00000568546.1	37	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378619	0.42207	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4735	0.61295	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBL3	1966056	1.000000	0.71417	0.319000	0.25293	0.215000	0.24574	7.091000	0.76923	1.786000	0.52430	0.459000	0.35465	.		0.642	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453	Intron	G	2026055	A	G	2026055	5	3	183	1	0	0	0	0	0	0	1	0	15648	202	7	3	1174	3	TBL3	16	2026055	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1689388	2026055	88328698	572	11269											
SYNGR3	9143	broad.mit.edu	37	16	2043042	2043042	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:2043042G>A	ENST00000248121.2	+	4	817	c.659G>A	c.(658-660)aGc>aAc	p.S220N	SYNGR3_ENST00000562045.1_3'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	220					positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						CTGGACACCAGCCCCAAAGGG	0.711																																																0													24	23	24					16																	2043042		2185	4295	6480	SO:0001583	missense	9143			AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.659G>A	16.37:g.2043042G>A	ENSP00000248121:p.Ser220Asn		B2R9S0	Missense_Mutation	SNP	ENST00000248121.2	37	CCDS10456.1	.	.	.	.	.	.	.	.	.	.	g	8.038	0.763265	0.15914	.	.	ENSG00000127561	ENST00000248121	T	0.14266	2.52	3.49	1.47	0.22746	.	0.460625	0.21566	N	0.072490	T	0.08447	0.0210	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28073	-1.0055	10	0.21540	T	0.41	.	7.084	0.25247	0.3383:0.0:0.6617:0.0	.	220	O43761	SNG3_HUMAN	N	220	ENSP00000248121:S220N	ENSP00000248121:S220N	S	+	2	0	SYNGR3	1983043	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.300000	0.43620	0.187000	0.20147	0.462000	0.41574	AGC		0.711	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			A	2043042	G	A	2043042	3	1	183	1	0	0	0	0	1	0	0	0	15455	971	34	2	673	2	SYNGR3	16	2043042	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	16987	2043042	88311711	573	11270											
PRSS33	260429	broad.mit.edu	37	16	2834653	2834653	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:2834653T>C	ENST00000293851.5	-	6	994	c.835A>G	c.(835-837)Agc>Ggc	p.S279G	PRSS33_ENST00000570702.1_Missense_Mutation_p.S279G|PRSS33_ENST00000576886.1_3'UTR	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			prostate(1)	1						CATTAGAAGCTGACGCGAGCC	0.627																																					NSCLC(194;489 2153 16702 19171 27758)											0													20	23	22					16																	2834653		1998	4183	6181	SO:0001583	missense	260429			AF536382	CCDS42110.1	16p13.3	2014-09-04			ENSG00000103355	ENSG00000103355		"Serine peptidases / Serine peptidases"	30405	protein-coding gene	gene with protein product		613797				12795636	Standard	NM_152891		Approved	EOS	uc002cro.1	Q8NF86	OTTHUMG00000177360	ENST00000293851.5:c.835A>G	16.37:g.2834653T>C	ENSP00000293851:p.Ser279Gly		A6NNQ3|Q8N171	Missense_Mutation	SNP	ENST00000293851.5	37	CCDS42110.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284598	0.40394	.	.	ENSG00000103355	ENST00000293851	D	0.88586	-2.4	4.7	2.41	0.29592	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	T	0.79493	0.4455	N	0.26092	0.79	0.22693	N	0.998842	P	0.40431	0.717	B	0.35813	0.211	T	0.70263	-0.4920	9	0.72032	D	0.01	.	6.5651	0.22507	0.0:0.2048:0.0:0.7952	.	279	Q8NF86	PRS33_HUMAN	G	279	ENSP00000293851:S279G	ENSP00000293851:S279G	S	-	1	0	PRSS33	2774654	0.649000	0.27322	0.521000	0.27850	0.018000	0.09664	0.038000	0.13862	0.676000	0.31285	0.449000	0.29647	AGC		0.627	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436446.1	NM_152891		C	2834653	T	C	2834653	3	2	183	1	0	0	0	0	1	0	0	0	12628	1580	55	3	11	3	PRSS33	16	2834653	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	791611	2834653	87520100	574	11271											
CLDN6	9074	broad.mit.edu	37	16	3065456	3065456	+	Frame_Shift_Del	DEL	C	C	-	rs536531302		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:3065456delC	ENST00000396925.1	-	3	995	c.567delG	c.(565-567)gggfs	p.G189fs	CLDN6_ENST00000328796.4_Frame_Shift_Del_p.G189fs|CLDN6_ENST00000572154.1_Intron|TNFRSF12A_ENST00000573001.1_5'Flank			P56747	CLD6_HUMAN	claudin 6	189					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGCCCTGGGACCCCCCCGAGG	0.642																																																0													27	33	31					16																	3065456		2198	4300	6498	SO:0001589	frameshift_variant	9074			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"Claudins"	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.567delG	16.37:g.3065456delC	ENSP00000380131:p.Gly189fs		B3KQP9|D3DUA5	Frame_Shift_Del	DEL	ENST00000396925.1	37	CCDS10488.1																																																																																				0.642	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		-	3065456	C	-	3065456	7	5	183	1	0	1	0	1	0	0	0	0	3491	494	18	0	99	0	CLDN6	16	3065456	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	230803	3065456	87289297	575	11272											
THOC6	79228	broad.mit.edu	37	16	3076526	3076526	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:3076526C>A	ENST00000326266.8	+	7	717	c.421C>A	c.(421-423)Ctc>Atc	p.L141I	HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.L117I|HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.L117I|THOC6_ENST00000253952.9_Missense_Mutation_p.L141I	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	141					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GGAGAATTCCCTCATCCTGGC	0.522																																																0													79	74	76					16																	3076526		2198	4300	6498	SO:0001583	missense	79228			BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"WD repeat domain containing", "THO complex subunits"	28369	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 35"	615403	"WD repeat domain 58"	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.421C>A	16.37:g.3076526C>A	ENSP00000326531:p.Leu141Ile		B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551412	0.65311	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.37235	1.21;1.21	5.7	4.75	0.60458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	L	0.56396	1.775	0.46416	D	0.999039	D;D	0.89917	0.976;1.0	P;D	0.71414	0.698;0.973	T	0.44711	-0.9310	10	0.26408	T	0.33	7.7479	10.5036	0.44821	0.0:0.9112:0.0:0.0888	.	141;141	Q86W42-3;Q86W42	.;THOC6_HUMAN	I	141	ENSP00000326531:L141I;ENSP00000253952:L141I	ENSP00000253952:L141I	L	+	1	0	THOC6	3016527	0.991000	0.36638	0.977000	0.42913	0.852000	0.48524	2.870000	0.48451	1.423000	0.47198	0.561000	0.74099	CTC		0.522	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		A	3076526	C	A	3076526	3	1	183	1	0	0	0	0	1	0	0	0	15874	681	24	4	447	4	THOC6	16	3076526	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	11070	3076526	87278227	576	11273											
PDXDC1	23042	broad.mit.edu	37	16	15126717	15126717	+	Splice_Site	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:15126717G>T	ENST00000396410.4	+	18	1668		c.e18-1		PDXDC1_ENST00000569715.1_Splice_Site|PDXDC1_ENST00000447912.2_Splice_Site|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000563679.1_Splice_Site|PDXDC1_ENST00000450288.2_Splice_Site|PDXDC1_ENST00000325823.7_Splice_Site	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1						carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTTGTTTTAGGTATGAACAT	0.373																																																0													113	125	121					16																	15126717		2197	4300	6497	SO:0001630	splice_region_variant	23042			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1572-1G>T	16.37:g.15126717G>T			B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Splice_Site	SNP	ENST00000396410.4	37	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254414	0.80135	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000396410;ENST00000450288	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5617	0.91102	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDXDC1	15034218	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.171000	0.77595	2.636000	0.89361	0.655000	0.94253	.		0.373	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027	Intron	T	15126717	G	T	15126717	5	4	183	1	0	0	0	0	0	0	1	0	11698	1014	35	4	1641	4	PDXDC1	16	15126717	Splice_Site	SNP	G	TCGA-B0-5098-01A-01D-1421-08	12050191	15126717	75228036	577	11274											
XYLT1	64131	broad.mit.edu	37	16	17294474	17294474	+	Silent	SNP	G	G	A	rs145318002	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:17294474G>A	ENST00000261381.6	-	4	1035	c.951C>T	c.(949-951)tcC>tcT	p.S317S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	317					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTACTCCACGGAGTCCTCGT	0.577																																																0								G		0,4394		0,0,2197	228	192	204		951	-10.7	0.1	16	dbSNP_134	204	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	XYLT1	NM_022166.3		0,3,6494	AA,AG,GG		0.0349,0.0,0.0231		317/960	17294474	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.951C>T	16.37:g.17294474G>A			Q9H1B6	Silent	SNP	ENST00000261381.6	37	CCDS10569.1																																																																																				0.577	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		A	17294474	G	A	17294474	2	1	183	1	0	0	0	0	0	0	0	1	17468	1103	39	1		1	XYLT1	16	17294474	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2167757	17294474	73060279	578	11275											
IQCK	124152	broad.mit.edu	37	16	19775436	19775436	+	Splice_Site	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:19775436T>G	ENST00000320394.6	+	7	1304		c.e7+2		IQCK_ENST00000433597.2_Splice_Site|CTD-2380F24.1_ENST00000565817.1_RNA|CTD-2380F24.1_ENST00000568843.1_RNA|IQCK_ENST00000562762.1_Splice_Site|CTD-2380F24.1_ENST00000564490.1_RNA|IQCK_ENST00000564186.1_Splice_Site|IQCK_ENST00000541926.1_Splice_Site	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K											kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						AAAGCAACAGTGAGTATGACA	0.388																																																0													69	66	67					16																	19775436		2197	4300	6497	SO:0001630	splice_region_variant	124152			AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.605+2T>G	16.37:g.19775436T>G			B2RDU0|O43327|Q8NFF4	Splice_Site	SNP	ENST00000320394.6	37	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371747	0.24857	.	.	ENSG00000174628	ENST00000320394;ENST00000541926;ENST00000433597	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6471	0.62288	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCK	19682937	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	4.694000	0.61760	2.152000	0.67230	0.528000	0.53228	.		0.388	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208	Intron	G	19775436	T	G	19775436	5	3	183	1	0	0	0	0	0	0	1	0	7815	1710	59	5	629	5	IQCK	16	19775436	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2480962	19775436	70579317	579	11276											
IQCK	124152	broad.mit.edu	37	16	19800174	19800174	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:19800174T>A	ENST00000320394.6	+	8	1319	c.620T>A	c.(619-621)aTc>aAc	p.I207N	IQCK_ENST00000433597.2_Missense_Mutation_p.I119N|IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000564186.1_Missense_Mutation_p.I207N|IQCK_ENST00000541926.1_Intron	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	207										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CGGCCGCCAATCCCACTCTCG	0.483																																																0													112	112	112					16																	19800174		2197	4300	6497	SO:0001583	missense	124152			AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.620T>A	16.37:g.19800174T>A	ENSP00000324901:p.Ile207Asn		B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	ENST00000320394.6	37	CCDS10580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.289674|4.289674	0.80914|0.80914	.|.	.|.	ENSG00000174628|ENSG00000174628	ENST00000320394;ENST00000433597|ENST00000308214	T;T|T	0.21361|0.20463	2.01;2.01|2.07	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.222217|.	0.31834|.	N|.	0.006997|.	T|T	0.36771|0.36771	0.0979|0.0979	M|M	0.64997|0.64997	1.995|1.995	0.40538|0.40538	D|D	0.980998|0.980998	D|.	0.67145|.	0.996|.	D|.	0.65874|.	0.939|.	T|T	0.07177|0.07177	-1.0786|-1.0786	9|6	.|.	.|.	.|.	-10.7645|-10.7645	14.3215|14.3215	0.66489|0.66489	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	207|.	Q8N0W5|.	IQCK_HUMAN|.	N|K	207;119|163	ENSP00000324901:I207N;ENSP00000406013:I119N|ENSP00000309261:N163K	.|.	I|N	+|+	2|3	0|2	IQCK|IQCK	19707675|19707675	0.961000|0.961000	0.32948|0.32948	0.973000|0.973000	0.42090|0.42090	0.976000|0.976000	0.68499|0.68499	3.330000|3.330000	0.52068|0.52068	2.186000|2.186000	0.69663|0.69663	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.483	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		A	19800174	T	A	19800174	3	1	183	1	0	0	0	0	1	0	0	0	7815	1435	50	5	646	5	IQCK	16	19800174	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	24738	19800174	70554579	580	11277											
GP2	2813	broad.mit.edu	37	16	20327330	20327330	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:20327330T>C	ENST00000381362.4	-	10	1534	c.1458A>G	c.(1456-1458)gtA>gtG	p.V486V	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Silent_p.V339V|GP2_ENST00000341642.5_Silent_p.V336V|GP2_ENST00000302555.5_Silent_p.V483V	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	486					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGATGGCCGGTACTTCACTGC	0.478																																																0													119	110	113					16																	20327330		2203	4300	6503	SO:0001819	synonymous_variant	2813			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1458A>G	16.37:g.20327330T>C			A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	CCDS42128.1																																																																																				0.478	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		C	20327330	T	C	20327330	2	2	183	1	0	0	0	0	0	0	0	1	6584	1625	57	3		3	GP2	16	20327330	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	527156	20327330	70027423	581	11278											
ACSM3	6296	broad.mit.edu	37	16	20796371	20796371	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:20796371delA	ENST00000289416.5	+	8	1560	c.1085delA	c.(1084-1086)gaafs	p.E362fs	ACSM3_ENST00000567387.1_3'UTR|RNU6-944P_ENST00000364023.1_RNA|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Frame_Shift_Del_p.E354fs|ACSM3_ENST00000440284.2_Frame_Shift_Del_p.E362fs	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	362					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GACGTGACTGAAAAATGGAGA	0.428																																																0													133	121	125					16																	20796371		2201	4300	6501	SO:0001589	frameshift_variant	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1085delA	16.37:g.20796371delA	ENSP00000289416:p.Glu362fs		O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Frame_Shift_Del	DEL	ENST00000289416.5	37	CCDS10589.1																																																																																				0.428	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		-	20796371	A	-	20796371	7	5	183	1	0	1	0	1	0	0	0	0	185	246	9	0	1111	0	ACSM3	16	20796371	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	469041	20796371	69558382	582	11279											
DCUN1D3	123879	broad.mit.edu	37	16	20871211	20871211	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:20871211A>G	ENST00000324344.4	-	3	1197	c.912T>C	c.(910-912)acT>acC	p.T304T	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.T304T	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	304					negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGAGCCACTAAGTCTGCTCCT	0.542																																																0													55	48	51					16																	20871211		2201	4300	6501	SO:0001819	synonymous_variant	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.912T>C	16.37:g.20871211A>G			B3KVY4	Silent	SNP	ENST00000324344.4	37	CCDS10592.1																																																																																				0.542	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		G	20871211	A	G	20871211	2	3	183	1	0	0	0	0	0	0	0	1	4317	59	3	3		3	DCUN1D3	16	20871211	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	74840	20871211	69483542	583	11280											
CRYM	1428	broad.mit.edu	37	16	21272583	21272583	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:21272583T>C	ENST00000219599.3	-	9	1137	c.872A>G	c.(871-873)aAg>aGg	p.K291R	CRYM_ENST00000396023.2_Missense_Mutation_p.K291R|CRYM_ENST00000543948.1_Missense_Mutation_p.K291R|CRYM_ENST00000415987.2_Missense_Mutation_p.K249R	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	291					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		ACCCAAAGACTTGAACACGGT	0.512																																																0													164	135	145					16																	21272583		2199	4300	6499	SO:0001583	missense	1428				CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"thiomorpholine-carboxylate dehydrogenase"	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.872A>G	16.37:g.21272583T>C	ENSP00000219599:p.Lys291Arg		D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.888423	0.91814	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	D;D;D;T	0.81739	-1.53;-1.53;-1.53;-1.49	5.31	5.31	0.75309	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90566	0.7043	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91985	0.5598	10	0.66056	D	0.02	-21.181	12.9854	0.58588	0.0:0.0:0.0:1.0	.	291	Q14894	CRYM_HUMAN	R	291;291;291;249	ENSP00000440227:K291R;ENSP00000219599:K291R;ENSP00000379341:K291R;ENSP00000390928:K249R	ENSP00000219599:K291R	K	-	2	0	CRYM	21180084	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.140000	0.77322	2.009000	0.58944	0.533000	0.62120	AAG		0.512	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			C	21272583	T	C	21272583	3	2	183	1	0	0	0	0	1	0	0	0	3923	1609	56	3	80	3	CRYM	16	21272583	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	401372	21272583	69082170	584	11281											
SLC5A11	115584	broad.mit.edu	37	16	24920260	24920260	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:24920260A>T	ENST00000347898.3	+	14	2115	c.1493A>T	c.(1492-1494)gAc>gTc	p.D498V	SLC5A11_ENST00000567758.1_Missense_Mutation_p.D463V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D342V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D428V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D434V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.D428V|SLC5A11_ENST00000449109.2_Missense_Mutation_p.D342V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D463V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.D434V	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTGGTCCTGGACTTTATTTAC	0.567																																																0													85	65	72					16																	24920260		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1493A>T	16.37:g.24920260A>T	ENSP00000289932:p.Asp498Val			Missense_Mutation	SNP	ENST00000347898.3	37	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342009	0.81911	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.75939	0.3918	L	0.58583	1.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.994;0.973	T	0.77696	-0.2491	10	0.66056	D	0.02	.	14.4217	0.67187	1.0:0.0:0.0:0.0	.	428;463;498;342	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	V	498;342;463;428;434	ENSP00000289932:D498V;ENSP00000389606:D342V;ENSP00000416782:D463V;ENSP00000441384:D428V;ENSP00000441018:D434V	ENSP00000289932:D498V	D	+	2	0	SLC5A11	24827761	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	9.146000	0.94640	2.289000	0.77006	0.482000	0.46254	GAC		0.567	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		T	24920260	A	T	24920260	3	4	183	1	0	0	0	0	1	0	0	0	14669	275	10	5	1543	5	SLC5A11	16	24920260	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3647677	24920260	65434493	585	11282											
ZNF771	51333	broad.mit.edu	37	16	30419389	30419389	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:30419389G>A	ENST00000319296.5	+	2	392	c.15G>A	c.(13-15)caG>caA	p.Q5Q	ZNF771_ENST00000566625.1_Silent_p.Q5Q|ZNF771_ENST00000434417.1_Silent_p.Q5Q|ZNF771_ENST00000564550.1_Silent_p.Q5Q			Q7L3S4	ZN771_HUMAN	zinc finger protein 771	5	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)							Colorectal(24;0.193)			CTGGCGAACagcaggcagagg	0.652																																																0													211	201	204					16																	30419389		692	1591	2283	SO:0001819	synonymous_variant	51333			BC026192	CCDS45460.1	16p11.2	2013-01-08				ENSG00000179965		"Zinc fingers, C2H2-type"	29653	protein-coding gene	gene with protein product						12477932	Standard	NM_016643		Approved	DSC43	uc010ver.2	Q7L3S4		ENST00000319296.5:c.15G>A	16.37:g.30419389G>A			Q8TAQ7|Q9NYI6	Silent	SNP	ENST00000319296.5	37	CCDS45460.1																																																																																				0.652	ZNF771-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434612.2	NM_016643		A	30419389	G	A	30419389	2	1	183	1	0	0	0	0	0	0	0	1	18149	962	34	2		2	ZNF771	16	30419389	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	5499129	30419389	59935364	586	11283											
ITGAX	3687	broad.mit.edu	37	16	31374511	31374511	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:31374511T>C	ENST00000268296.4	+	14	1647	c.1526T>C	c.(1525-1527)gTt>gCt	p.V509A	ITGAX_ENST00000562522.1_Missense_Mutation_p.V509A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	509					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGTGATGCTGTTCTCTACGGG	0.642																																																0													103	109	107					16																	31374511		2197	4300	6497	SO:0001583	missense	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1526T>C	16.37:g.31374511T>C	ENSP00000268296:p.Val509Ala		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	T	4.346	0.063592	0.08388	.	.	ENSG00000140678	ENST00000268296	T	0.10763	2.84	3.76	2.65	0.31530	.	.	.	.	.	T	0.11410	0.0278	M	0.66439	2.03	0.26183	N	0.979703	B	0.26041	0.14	B	0.26416	0.069	T	0.34625	-0.9821	9	0.20046	T	0.44	.	5.3428	0.15992	0.0:0.1432:0.0:0.8568	.	509	P20702	ITAX_HUMAN	A	509	ENSP00000268296:V509A	ENSP00000268296:V509A	V	+	2	0	ITGAX	31282012	0.001000	0.12720	0.105000	0.21289	0.032000	0.12392	0.914000	0.28624	0.461000	0.27071	0.377000	0.23210	GTT		0.642	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		C	31374511	T	C	31374511	3	2	183	1	0	0	0	0	1	0	0	0	7891	1725	60	3	1580	3	ITGAX	16	31374511	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	955122	31374511	58980242	587	11284											
N4BP1	9683	broad.mit.edu	37	16	48595100	48595100	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:48595100G>T	ENST00000262384.3	-	2	1690	c.1454C>A	c.(1453-1455)aCa>aAa	p.T485K	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	485					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTCAGGGTCTGTGTTACAAAT	0.418																																																0													145	147	146					16																	48595100		1898	4114	6012	SO:0001583	missense	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1454C>A	16.37:g.48595100G>T	ENSP00000262384:p.Thr485Lys		A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	G	3.060	-0.193478	0.06259	.	.	ENSG00000102921	ENST00000262384	T	0.42131	0.98	6.08	-6.77	0.01727	.	2.063510	0.01406	N	0.013785	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.47649	-0.9101	10	0.06099	T	0.92	5.2431	18.8001	0.92013	0.4027:0.0:0.5973:0.0	.	485	O75113	N4BP1_HUMAN	K	485	ENSP00000262384:T485K	ENSP00000262384:T485K	T	-	2	0	N4BP1	47152601	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.171000	0.09883	-1.069000	0.03153	-0.312000	0.09012	ACA		0.418	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		T	48595100	G	T	48595100	3	4	183	1	0	0	0	0	1	0	0	0	10111	1377	48	4	1260	4	N4BP1	16	48595100	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	17220589	48595100	41759653	588	11285											
ADCY7	113	broad.mit.edu	37	16	50328621	50328621	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:50328621G>C	ENST00000394697.2	+	7	1247	c.907G>C	c.(907-909)Gtg>Ctg	p.V303L	ADCY7_ENST00000537579.1_Missense_Mutation_p.V303L|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Missense_Mutation_p.V303L|ADCY7_ENST00000254235.3_Missense_Mutation_p.V303L|ADCY7_ENST00000566433.2_Missense_Mutation_p.V303L			P51828	ADCY7_HUMAN	adenylate cyclase 7	303	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GCTGGTGGTGGTGCTGAATGA	0.617																																																0													78	57	64					16																	50328621		2198	4300	6498	SO:0001583	missense	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.907G>C	16.37:g.50328621G>C	ENSP00000378187:p.Val303Leu		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342785	0.24339	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.33	-0.784	0.10954	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.172150	0.26140	U	0.026104	T	0.45796	0.1360	N	0.03194	-0.395	0.32085	N	0.592662	B;B	0.09022	0.002;0.002	B;B	0.15870	0.014;0.013	T	0.50074	-0.8870	10	0.02654	T	1	.	8.7152	0.34408	0.7165:0.0:0.2835:0.0	.	303;303	P51828;F5H4D1	ADCY7_HUMAN;.	L	303	ENSP00000445046:V303L;ENSP00000378187:V303L;ENSP00000437788:V303L;ENSP00000254235:V303L	ENSP00000254235:V303L	V	+	1	0	ADCY7	48886122	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	2.594000	0.46189	0.006000	0.14734	0.655000	0.94253	GTG		0.617	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			C	50328621	G	C	50328621	3	2	183	1	0	0	0	0	1	0	0	0	299	1261	44	4	929	4	ADCY7	16	50328621	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1733521	50328621	40026132	589	11286											
FTO	79068	broad.mit.edu	37	16	53922839	53922839	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:53922839A>G	ENST00000471389.1	+	7	1437	c.1215A>G	c.(1213-1215)gcA>gcG	p.A405A	FTO_ENST00000394647.3_Silent_p.A109A|FTO_ENST00000460382.1_Silent_p.A6A|FTO_ENST00000431610.2_Silent_p.A6A	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	405			A -> V (in dbSNP:rs16952624).		adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AACTGGAAGCACTGTGGAAGA	0.502																																																0													290	260	270					16																	53922839		2198	4300	6498	SO:0001819	synonymous_variant	79068			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1215A>G	16.37:g.53922839A>G			A2RUH1|B2RNS0|Q0P676|Q7Z785	Silent	SNP	ENST00000471389.1	37	CCDS32448.1																																																																																				0.502	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		G	53922839	A	G	53922839	2	3	183	1	0	0	0	0	0	0	0	1	6088	146	6	3		3	FTO	16	53922839	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	3594218	53922839	36431914	590	11287											
CES1	1066	broad.mit.edu	37	16	55857583	55857583	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:55857583T>A	ENST00000361503.4	-	4	545	c.415A>T	c.(415-417)Atc>Ttc	p.I139F	CES1_ENST00000422046.2_Missense_Mutation_p.I139F|CES1_ENST00000360526.3_Missense_Mutation_p.I140F|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	139					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CCTCCGTGGATCCACACCATC	0.557																																					NSCLC(162;1801 2756 42904 52896)											0													61	55	57					16																	55857583		2196	4298	6494	SO:0001583	missense	1066			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.415A>T	16.37:g.55857583T>A	ENSP00000355193:p.Ile139Phe		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	13.98	2.398380	0.42512	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.80304	-1.36;-1.36;-1.36	4.05	2.89	0.33648	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000010	D	0.87249	0.6130	M	0.77712	2.385	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.994	D	0.84947	0.0869	10	0.54805	T	0.06	.	7.8756	0.29592	0.0:0.1069:0.0:0.893	.	139;139;140	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	F	140;139;139;4	ENSP00000353720:I140F;ENSP00000355193:I139F;ENSP00000390492:I139F	ENSP00000353720:I140F	I	-	1	0	CES1	54415084	1.000000	0.71417	0.988000	0.46212	0.133000	0.20885	4.509000	0.60448	0.401000	0.25424	0.329000	0.21502	ATC		0.557	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		A	55857583	T	A	55857583	3	1	183	1	0	0	0	0	1	0	0	0	3271	1435	50	5	1332	5	CES1	16	55857583	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1934744	55857583	34497170	591	11288											
CES7	221223	broad.mit.edu	37	16	55886920	55886920	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:55886920C>T	ENST00000290567.9	-	10	1267	c.1146G>A	c.(1144-1146)ttG>ttA	p.L382L	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000521992.1_Silent_p.L411L|CES5A_ENST00000520435.1_Silent_p.L352L|CES5A_ENST00000319165.9_Silent_p.L382L|CES5A_ENST00000518005.1_Silent_p.L276L	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	382						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCACAAGGTGCAAATACTGAG	0.473																																																0													113	105	108					16																	55886920		2198	4300	6498	SO:0001819	synonymous_variant	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1146G>A	16.37:g.55886920C>T			B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	CCDS45490.1																																																																																				0.473	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		T	55886920	C	T	55886920	2	4	183	1	0	0	0	0	0	0	0	1	3274	709	25	2		2	CES7	16	55886920	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	29337	55886920	34467833	592	11289											
GNAO1	2775	broad.mit.edu	37	16	56377829	56377829	+	Intron	SNP	C	C	T	rs199868005		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:56377829C>T	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Silent_p.I344I	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				ACGTCATCATCGCCAAAAACC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		14880	0.0		0.001	False		,,,				2504	0.0															0													143	102	116					16																	56377829		2198	4300	6498	SO:0001627	intron_variant	2775				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+7057C>T	16.37:g.56377829C>T			P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	CCDS10756.1																																																																																				0.622	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		T	56377829	C	T	56377829	1	4	183	0	1	0	0	0	0	0	0	0	6510	874	31	1		1	GNAO1	16	56377829	Intron	SNP	C	TCGA-B0-5098-01A-01D-1421-08	490909	56377829	33976924	593	11290											
NLRC5	84166	broad.mit.edu	37	16	57060873	57060873	+	Missense_Mutation	SNP	C	C	A	rs199502190		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:57060873C>A	ENST00000262510.6	+	6	2243	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	NLRC5_ENST00000308149.7_Missense_Mutation_p.P673H|NLRC5_ENST00000436936.1_Missense_Mutation_p.P673H|NLRC5_ENST00000539144.1_Missense_Mutation_p.P673H	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	673					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GATGGCTGTCCCCTGGAGCCC	0.597																																																0													57	53	54					16																	57060873		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2018C>A	16.37:g.57060873C>A	ENSP00000262510:p.Pro673His		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956446	0.53293	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.37	3.42	0.39159	.	0.512122	0.14733	N	0.301636	T	0.59959	0.2232	L	0.60455	1.87	0.09310	N	0.999999	D;D;B;P	0.76494	0.999;0.995;0.337;0.806	D;P;B;P	0.65443	0.935;0.885;0.199;0.571	T	0.48163	-0.9059	10	0.39692	T	0.17	.	10.0021	0.41935	0.0:0.7722:0.0:0.2278	.	673;673;673;673	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	H	673;673;673;147;673;180;28	ENSP00000262510:P673H;ENSP00000308886:P673H;ENSP00000389739:P673H;ENSP00000441727:P673H;ENSP00000441597:P180H;ENSP00000440153:P28H	ENSP00000262510:P673H	P	+	2	0	NLRC5	55618374	0.105000	0.21958	0.858000	0.33744	0.957000	0.61999	1.454000	0.35178	0.651000	0.30788	0.561000	0.74099	CCC		0.597	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		A	57060873	C	A	57060873	3	1	183	1	0	0	0	0	1	0	0	0	10472	623	22	4	2032	4	NLRC5	16	57060873	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	683044	57060873	33293880	594	11291											
ZNF319	57567	broad.mit.edu	37	16	58031166	58031166	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:58031166C>T	ENST00000299237.2	-	2	1626	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCTGTGTGTGCGCTCATGCTG	0.682																																																0													38	36	36					16																	58031166		2198	4299	6497	SO:0001583	missense	57567			AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1004G>A	16.37:g.58031166C>T	ENSP00000299237:p.Arg335His		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152917	0.57259	.	.	ENSG00000166188	ENST00000299237	T	0.25749	1.78	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.58624	-0.7604	10	0.87932	D	0	-43.1315	17.7991	0.88581	0.0:1.0:0.0:0.0	.	335	Q9P2F9	ZN319_HUMAN	H	335	ENSP00000299237:R335H	ENSP00000299237:R335H	R	-	2	0	ZNF319	56588667	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	7.805000	0.86005	2.456000	0.83038	0.655000	0.94253	CGC		0.682	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			T	58031166	C	T	58031166	3	4	183	1	0	0	0	0	1	0	0	0	17842	768	27	1	748	1	ZNF319	16	58031166	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	970293	58031166	32323587	595	11292											
SLC7A6	9057	broad.mit.edu	37	16	68321684	68321685	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:68321684_68321685insG	ENST00000566454.1	+	5	828_829	c.559_560insG	c.(559-561)tggfs	p.W187fs	SLC7A6_ENST00000219343.6_Frame_Shift_Ins_p.W187fs	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CTATGTCAAGTGGGGCACACGT	0.54																																																0																																										SO:0001589	frameshift_variant	9057			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"Solute carriers"	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.563dupG	16.37:g.68321688_68321688dupG	ENSP00000455064:p.Trp187fs			Frame_Shift_Ins	INS	ENST00000566454.1	37	CCDS32470.1																																																																																				0.54	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		G	68321685	-	G	68321684	7	5	183	1	0	1	1	0	0	0	0	0	14707	1696	59	0	565	0	SLC7A6	16	68321684	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	10290518	68321684	22033069	596	11293											
WWP2	11060	broad.mit.edu	37	16	69832614	69832614	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:69832614C>T	ENST00000359154.2	+	3	201	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	WWP2_ENST00000569174.1_Missense_Mutation_p.R34C|WWP2_ENST00000448661.1_Missense_Mutation_p.R34C|WWP2_ENST00000356003.2_Missense_Mutation_p.R34C	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	34	C2.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTGCATAATCGTCAACCTCG	0.542											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													140	137	138					16																	69832614		2198	4300	6498	SO:0001583	missense	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.100C>T	16.37:g.69832614C>T	ENSP00000352069:p.Arg34Cys	1117	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241724	0.95272	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.68025	-0.3;-0.3;-0.3	5.76	5.76	0.90799	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.72178	-0.4369	9	.	.	.	.	16.6952	0.85333	0.0:1.0:0.0:0.0	.	34	O00308	WWP2_HUMAN	C	34	ENSP00000352069:R34C;ENSP00000396871:R34C;ENSP00000348283:R34C	.	R	+	1	0	WWP2	68390115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.116000	0.64661	2.713000	0.92767	0.655000	0.94253	CGT		0.542	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		T	69832614	C	T	69832614	3	4	183	1	0	0	0	0	1	0	0	0	17421	884	31	1	106	1	WWP2	16	69832614	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1510930	69832614	20522139	597	11294											
AP1G1	164	broad.mit.edu	37	16	71767002	71767002	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:71767002G>T	ENST00000299980.4	-	23	2869	c.2428C>A	c.(2428-2430)Cta>Ata	p.L810I	AP1G1_ENST00000433195.2_Missense_Mutation_p.L833I|AP1G1_ENST00000393512.3_Missense_Mutation_p.L813I|AP1G1_ENST00000569748.1_Missense_Mutation_p.L810I|AP1G1_ENST00000423132.2_Missense_Mutation_p.L813I|AP1G1_ENST00000564155.1_Missense_Mutation_p.L235I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	810	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACCTCTGCTAGATCTTGCATT	0.438																																																0													174	159	164					16																	71767002		2198	4300	6498	SO:0001583	missense	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2428C>A	16.37:g.71767002G>T	ENSP00000299980:p.Leu810Ile		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	G	5.682	0.310376	0.10733	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.94	1.76	0.24704	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	N	0.10916	0.065	0.54753	D	0.999989	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.13407	0.009;0.005;0.003	T	0.04427	-1.0952	10	0.15499	T	0.54	-7.1708	7.0389	0.25008	0.1962:0.0:0.6803:0.1235	.	810;833;813	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	I	810;813;813;833;336	ENSP00000299980:L810I;ENSP00000377148:L813I;ENSP00000409153:L813I;ENSP00000403259:L833I	ENSP00000299980:L810I	L	-	1	2	AP1G1	70324503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.431000	0.66507	0.391000	0.25143	0.650000	0.86243	CTA		0.438	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			T	71767002	G	T	71767002	3	4	183	1	0	0	0	0	1	0	0	0	732	933	33	4	44	4	AP1G1	16	71767002	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1934388	71767002	18587751	598	11295											
PMFBP1	83449	broad.mit.edu	37	16	72184607	72184607	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:72184607T>C	ENST00000237353.10	-	5	797	c.536A>G	c.(535-537)aAc>aGc	p.N179S	PMFBP1_ENST00000537465.1_Missense_Mutation_p.N179S|PMFBP1_ENST00000355636.6_Missense_Mutation_p.N34S	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	179						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTGTAGAGGTTTAAGCTCCT	0.527																																																0													128	118	122					16																	72184607		2198	4300	6498	SO:0001583	missense	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.536A>G	16.37:g.72184607T>C	ENSP00000237353:p.Asn179Ser		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345345	0.24426	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.78481	-1.18;-1.18;2.61	6.17	-1.79	0.07932	.	0.451574	0.21151	N	0.079323	T	0.50650	0.1628	N	0.24115	0.695	0.18873	N	0.999985	B;B;B	0.26081	0.141;0.084;0.084	B;B;B	0.26202	0.067;0.015;0.022	T	0.46498	-0.9187	10	0.02654	T	1	-13.533	2.5673	0.04786	0.1107:0.2662:0.1138:0.5093	.	179;179;179	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	S	179;179;34	ENSP00000443817:N179S;ENSP00000237353:N179S;ENSP00000347854:N34S	ENSP00000237353:N179S	N	-	2	0	PMFBP1	70742108	0.997000	0.39634	0.885000	0.34714	0.703000	0.40648	0.293000	0.19029	-0.560000	0.06102	-1.937000	0.00501	AAC		0.527	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		C	72184607	T	C	72184607	3	2	183	1	0	0	0	0	1	0	0	0	12136	1725	60	3	2615	3	PMFBP1	16	72184607	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	417605	72184607	18170146	599	11296											
ZFHX3	463	broad.mit.edu	37	16	72845484	72845484	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:72845484T>C	ENST00000268489.5	-	7	4528	c.3856A>G	c.(3856-3858)Att>Gtt	p.I1286V	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.I372V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1286					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACCGTCATAATGAGCTTCTCC	0.552																																																0													50	46	47					16																	72845484		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3856A>G	16.37:g.72845484T>C	ENSP00000268489:p.Ile1286Val		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812063	0.50527	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73789	-0.78;-0.73	5.67	5.67	0.87782	.	0.000000	0.50627	D	0.000112	T	0.73931	0.3650	L	0.43923	1.385	0.80722	D	1	P	0.42123	0.771	P	0.45856	0.495	T	0.77054	-0.2730	10	0.72032	D	0.01	.	15.8627	0.79038	0.0:0.0:0.0:1.0	.	1286	Q15911	ZFHX3_HUMAN	V	1286;372	ENSP00000268489:I1286V;ENSP00000438926:I372V	ENSP00000268489:I1286V	I	-	1	0	ZFHX3	71402985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.232000	0.58645	2.281000	0.76405	0.533000	0.62120	ATT		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		C	72845484	T	C	72845484	3	2	183	1	0	0	0	0	1	0	0	0	17639	1464	51	3	7271	3	ZFHX3	16	72845484	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	660877	72845484	17509269	600	11297											
ZFHX3	463	broad.mit.edu	37	16	72993580	72993580	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:72993580G>A	ENST00000268489.5	-	2	1137	c.465C>T	c.(463-465)ggC>ggT	p.G155G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	155					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCCCACAGGCGCCCCCGCCCT	0.672																																																0													29	35	33					16																	72993580		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.465C>T	16.37:g.72993580G>A			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.672	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72993580	G	A	72993580	2	1	183	1	0	0	0	0	0	0	0	1	17639	1074	38	1		1	ZFHX3	16	72993580	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	148096	72993580	17361173	601	11298											
ADAMTS18	170692	broad.mit.edu	37	16	77331255	77331255	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:77331255G>A	ENST00000282849.5	-	18	3150	c.2732C>T	c.(2731-2733)tCa>tTa	p.S911L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	911					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTGCAGAATGAGGAATTGAC	0.393																																																0													177	172	173					16																	77331255		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2732C>T	16.37:g.77331255G>A	ENSP00000282849:p.Ser911Leu		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942885	0.92526	.	.	ENSG00000140873	ENST00000282849	T	0.60797	0.16	6.06	6.06	0.98353	.	0.204017	0.42682	D	0.000674	T	0.67524	0.2902	M	0.73372	2.23	0.52099	D	0.999947	P;P	0.45902	0.617;0.868	B;P	0.47251	0.198;0.542	T	0.70008	-0.4990	10	0.72032	D	0.01	.	19.6164	0.95636	0.0:0.0:1.0:0.0	.	911;911	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	911	ENSP00000282849:S911L	ENSP00000282849:S911L	S	-	2	0	ADAMTS18	75888756	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.795000	0.62489	2.871000	0.98454	0.655000	0.94253	TCA		0.393	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			A	77331255	G	A	77331255	3	1	183	1	0	0	0	0	1	0	0	0	263	1294	45	2	957	2	ADAMTS18	16	77331255	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	4337675	77331255	13023498	602	11299											
ADAMTS18	170692	broad.mit.edu	37	16	77331297	77331297	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:77331297T>C	ENST00000282849.5	-	18	3108	c.2690A>G	c.(2689-2691)aAg>aGg	p.K897R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	897					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAATGGCCTTTACATTTAT	0.373																																																0													136	135	135					16																	77331297		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2690A>G	16.37:g.77331297T>C	ENSP00000282849:p.Lys897Arg		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436647	0.43224	.	.	ENSG00000140873	ENST00000282849	T	0.60548	0.18	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	L	0.35644	1.08	0.52099	D	0.999944	B;B	0.24576	0.106;0.023	B;B	0.26310	0.039;0.068	T	0.41251	-0.9519	10	0.15066	T	0.55	.	15.615	0.76760	0.0:0.0:0.0:1.0	.	897;897	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	R	897	ENSP00000282849:K897R	ENSP00000282849:K897R	K	-	2	0	ADAMTS18	75888798	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.237000	0.78164	2.270000	0.75569	0.533000	0.62120	AAG		0.373	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			C	77331297	T	C	77331297	3	2	183	1	0	0	0	0	1	0	0	0	263	1609	56	3	999	3	ADAMTS18	16	77331297	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	42	77331297	13023456	603	11300											
NECAB2	54550	broad.mit.edu	37	16	84031849	84031849	+	Missense_Mutation	SNP	G	G	A	rs147666898		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:84031849G>A	ENST00000305202.4	+	10	906	c.889G>A	c.(889-891)Gag>Aag	p.E297K	NECAB2_ENST00000565691.1_Missense_Mutation_p.E214K|NECAB2_ENST00000567703.1_3'UTR	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	297	ABM.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CGTGTGCCCCGAGCAACTGAG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16779	0.0		0.0	False		,,,				2504	0.001															0								G	LYS/GLU	1,4399	2.1+/-5.4	0,1,2199	39	35	36		889	2.6	0.5	16	dbSNP_134	36	0,8600		0,0,4300	no	missense	NECAB2	NM_019065.2	56	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	297/387	84031849	1,12999	2200	4300	6500	SO:0001583	missense	54550			AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	23746	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 2"	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.889G>A	16.37:g.84031849G>A	ENSP00000307449:p.Glu297Lys		A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298763	0.23650	2.27E-4	0.0	ENSG00000103154	ENST00000305202	T	0.35048	1.33	4.64	2.62	0.31277	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.063203	0.64402	D	0.000004	T	0.27419	0.0673	L	0.28115	0.83	0.28784	N	0.899663	D	0.57571	0.98	P	0.51229	0.663	T	0.07214	-1.0784	10	0.30854	T	0.27	-38.7062	3.3948	0.07302	0.1831:0.0:0.5878:0.2292	.	297	Q7Z6G3	NECA2_HUMAN	K	297	ENSP00000307449:E297K	ENSP00000307449:E297K	E	+	1	0	NECAB2	82589350	0.998000	0.40836	0.521000	0.27850	0.295000	0.27426	3.314000	0.51943	0.895000	0.36342	0.462000	0.41574	GAG		0.652	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		A	84031849	G	A	84031849	3	1	183	1	0	0	0	0	1	0	0	0	10307	1059	37	1	927	1	NECAB2	16	84031849	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	6700552	84031849	6322904	604	11301											
ADAD2	161931	broad.mit.edu	37	16	84230327	84230327	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:84230327T>C	ENST00000315906.5	+	9	1653	c.1601T>C	c.(1600-1602)gTg>gCg	p.V534A	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.V616A|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	534	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCAGGGCTGTGGGGAAGCCC	0.667																																																0													59	61	60					16																	84230327		2200	4300	6500	SO:0001583	missense	161931			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1601T>C	16.37:g.84230327T>C	ENSP00000325153:p.Val534Ala		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	T	0.106	-1.144585	0.01728	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93604	-3.25;-3.25	5.27	4.18	0.49190	Adenosine deaminase/editase (2);	0.320112	0.25619	N	0.029435	T	0.81992	0.4940	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.12837	0.007;0.008	T	0.66712	-0.5854	10	0.15066	T	0.55	-17.2826	7.0084	0.24849	0.0:0.1003:0.0:0.8997	.	534;616	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	A	534;616	ENSP00000325153:V534A;ENSP00000268624:V616A	ENSP00000268624:V616A	V	+	2	0	ADAD2	82787828	0.053000	0.20554	0.032000	0.17829	0.307000	0.27823	2.082000	0.41605	1.975000	0.57531	0.477000	0.44152	GTG		0.667	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		C	84230327	T	C	84230327	3	2	183	1	0	0	0	0	1	0	0	0	232	1696	59	3	1885	3	ADAD2	16	84230327	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	198478	84230327	6124426	605	11302											
ATP2C2	9914	broad.mit.edu	37	16	84495688	84495688	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:84495688T>C	ENST00000262429.4	+	26	2764	c.2675T>C	c.(2674-2676)aTc>aCc	p.I892T	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.I921T|RP11-517C16.2_ENST00000565700.1_RNA	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	892					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCATTTACATCCCCCCGCTG	0.612																																																0													85	94	91					16																	84495688		1967	4149	6116	SO:0001583	missense	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2675T>C	16.37:g.84495688T>C	ENSP00000262429:p.Ile892Thr		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	T	8.618	0.890624	0.17613	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.96073	-3.9;-3.9	5.14	-0.986	0.10252	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	1.383590	0.04727	N	0.420494	D	0.90981	0.7164	L	0.28274	0.84	0.24920	N	0.991986	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.12837	0.008;0.005;0.003;0.005;0.005	T	0.79458	-0.1795	10	0.35671	T	0.21	.	9.3706	0.38252	0.0:0.3723:0.0:0.6277	.	921;741;741;909;892	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	T	921;892;741	ENSP00000397925:I921T;ENSP00000262429:I892T	ENSP00000262429:I892T	I	+	2	0	ATP2C2	83053189	0.930000	0.31532	0.000000	0.03702	0.064000	0.16182	3.371000	0.52379	-0.494000	0.06669	0.459000	0.35465	ATC		0.612	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		C	84495688	T	C	84495688	3	2	183	1	0	0	0	0	1	0	0	0	1144	1435	50	3	2777	3	ATP2C2	16	84495688	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	265361	84495688	5859065	606	11303											
ZDHHC7	55625	broad.mit.edu	37	16	85010045	85010045	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:85010045delC	ENST00000313732.4	-	8	1183	c.831delG	c.(829-831)gggfs	p.G277fs	ZDHHC7_ENST00000564466.1_Frame_Shift_Del_p.G314fs|ZDHHC7_ENST00000569488.1_5'Flank	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	277					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						GTGAGGGGGGCCCCCCAAAGA	0.577																																																0													48	58	55					16																	85010045		2199	4300	6499	SO:0001589	frameshift_variant	55625			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.831delG	16.37:g.85010045delC	ENSP00000315604:p.Gly277fs		D3DUM1|Q8WV42|Q9NVD8	Frame_Shift_Del	DEL	ENST00000313732.4	37	CCDS10950.1																																																																																				0.577	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		-	85010045	C	-	85010045	7	5	183	1	0	1	0	1	0	0	0	0	17625	726	26	0	99	0	ZDHHC7	16	85010045	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	514357	85010045	5344708	607	11304											
PRDM7	11105	broad.mit.edu	37	16	90142264	90142264	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr16:90142264C>G	ENST00000449207.2	-	1	74	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	PRDM7_ENST00000407825.1_5'UTR|PRDM7_ENST00000569206.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	19					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGCTTCCGCTCTGTTCTCTCT	0.592																																																0													68	74	72					16																	90142264		1934	4136	6070	SO:0001583	missense	11105			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.55G>C	16.37:g.90142264C>G	ENSP00000396732:p.Glu19Gln		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	8.635	0.894585	0.17613	.	.	ENSG00000126856	ENST00000449207;ENST00000414728	T	0.12672	2.66	1.39	0.287	0.15714	Krueppel-associated box (1);	.	.	.	.	T	0.11707	0.0285	L	0.55990	1.75	0.09310	N	0.999999	P	0.43094	0.799	B	0.38562	0.276	T	0.18209	-1.0344	8	.	.	.	.	5.2357	0.15445	0.0:0.6278:0.3722:0.0	.	19	Q9NQW5	PRDM7_HUMAN	Q	19	ENSP00000396732:E19Q	.	E	-	1	0	PRDM7	88669765	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.276000	0.18716	0.123000	0.18342	0.485000	0.47835	GAG		0.592	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			G	90142264	C	G	90142264	3	3	183	1	0	0	0	0	1	0	0	0	12466	922	32	4	1463	4	PRDM7	16	90142264	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	5132219	90142264	212489	608	11305											
PRPF8	10594	broad.mit.edu	37	17	1557299	1557299	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:1557299G>A	ENST00000572621.1	-	37	6264	c.5999C>T	c.(5998-6000)gCa>gTa	p.A2000V	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Missense_Mutation_p.A2000V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2000	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTCAGTGATGCCACGTTCAC	0.522																																																0													267	232	244					17																	1557299		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5999C>T	17.37:g.1557299G>A	ENSP00000460348:p.Ala2000Val		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133377	0.56828	.	.	ENSG00000174231	ENST00000304992	T	0.80566	-1.39	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.86805	2.84	0.80722	D	1	B	0.24426	0.103	B	0.22601	0.04	T	0.82024	-0.0662	10	0.72032	D	0.01	-11.1941	19.8676	0.96824	0.0:0.0:1.0:0.0	.	2000	Q6P2Q9	PRP8_HUMAN	V	2000	ENSP00000304350:A2000V	ENSP00000304350:A2000V	A	-	2	0	PRPF8	1504049	1.000000	0.71417	0.994000	0.49952	0.170000	0.22686	9.586000	0.98226	2.941000	0.99782	0.655000	0.94253	GCA		0.522	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			A	1557299	G	A	1557299	3	1	183	1	0	0	0	0	1	0	0	0	12580	1319	46	2	1032	2	PRPF8	17	1557299	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08		1557299	79637911	609	11306											
OR3A1	4994	broad.mit.edu	37	17	3195465	3195465	+	Missense_Mutation	SNP	G	G	T	rs577166909		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:3195465G>T	ENST00000323404.1	-	1	411	c.412C>A	c.(412-414)Cgc>Agc	p.R138S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	138					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGACTCATGCGGGTGCTGTAG	0.582																																					GBM(20;287 516 18743 28660 36594)											0													114	109	111					17																	3195465		2203	4300	6503	SO:0001583	missense	4994			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.412C>A	17.37:g.3195465G>T	ENSP00000313803:p.Arg138Ser		Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	G	6.680	0.494005	0.12702	.	.	ENSG00000180090	ENST00000323404	T	0.00381	7.63	5.31	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.131866	0.35291	N	0.003317	T	0.00241	0.0007	L	0.29908	0.895	0.09310	N	1	B	0.31752	0.338	B	0.36092	0.217	T	0.44019	-0.9355	10	0.23891	T	0.37	-13.4225	9.5346	0.39216	0.0756:0.0:0.784:0.1404	.	138	P47881	OR3A1_HUMAN	S	138	ENSP00000313803:R138S	ENSP00000313803:R138S	R	-	1	0	OR3A1	3142215	0.000000	0.05858	0.988000	0.46212	0.854000	0.48673	-0.890000	0.04140	1.466000	0.48025	0.650000	0.86243	CGC		0.582	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			T	3195465	G	T	3195465	3	4	183	1	0	0	0	0	1	0	0	0	11039	1116	39	4	539	4	OR3A1	17	3195465	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1638166	3195465	77999745	610	11307											
CAMKK1	84254	broad.mit.edu	37	17	3775908	3775908	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:3775908T>C	ENST00000348335.2	-	12	1212	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	CAMKK1_ENST00000381769.2_Missense_Mutation_p.D382G|CAMKK1_ENST00000381771.2_Missense_Mutation_p.D393G|CAMKK1_ENST00000158166.5_Missense_Mutation_p.D393G	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	355	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GATGAAATCGTCGATGAATGG	0.612																																																0													109	95	100					17																	3775908		2203	4300	6503	SO:0001583	missense	84254			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1064A>G	17.37:g.3775908T>C	ENSP00000323118:p.Asp355Gly		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682975	0.68157	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	N	0.02916	-0.46	0.80722	D	1	B;B	0.30664	0.289;0.175	B;B	0.42798	0.209;0.398	T	0.42565	-0.9444	10	0.51188	T	0.08	-22.3148	14.3398	0.66617	0.0:0.0:0.0:1.0	.	393;355	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	G	382;355;393;393	ENSP00000371188:D382G;ENSP00000323118:D355G;ENSP00000371190:D393G;ENSP00000158166:D393G	ENSP00000158166:D393G	D	-	2	0	CAMKK1	3722657	1.000000	0.71417	0.977000	0.42913	0.703000	0.40648	7.581000	0.82535	1.990000	0.58119	0.528000	0.53228	GAC		0.612	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		C	3775908	T	C	3775908	3	2	183	1	0	0	0	0	1	0	0	0	2608	1667	58	3	477	3	CAMKK1	17	3775908	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	580443	3775908	77419302	611	11308											
SPNS2	124976	broad.mit.edu	37	17	4434362	4434362	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:4434362T>C	ENST00000329078.3	+	5	950	c.740T>C	c.(739-741)aTt>aCt	p.I247T		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	247					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTGGGCTACATTACTGGCTCC	0.642																																																0													47	43	44					17																	4434362		1568	3582	5150	SO:0001583	missense	124976			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.740T>C	17.37:g.4434362T>C	ENSP00000333292:p.Ile247Thr		B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135814	0.77662	.	.	ENSG00000183018	ENST00000329078	T	0.59364	0.27	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	M	0.69358	2.11	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.75587	-0.3266	10	0.87932	D	0	.	12.4694	0.55779	0.0:0.0:0.0:1.0	.	247	Q8IVW8	SPNS2_HUMAN	T	247	ENSP00000333292:I247T	ENSP00000333292:I247T	I	+	2	0	SPNS2	4381111	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	8.040000	0.89188	1.628000	0.50416	0.379000	0.24179	ATT		0.642	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			C	4434362	T	C	4434362	3	2	183	1	0	0	0	0	1	0	0	0	15080	1493	52	3	758	3	SPNS2	17	4434362	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	658454	4434362	76760848	612	11309											
RABEP1	9135	broad.mit.edu	37	17	5280457	5280457	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:5280457T>C	ENST00000546142.2	+	14	2259	c.2072T>C	c.(2071-2073)gTg>gCg	p.V691A	RABEP1_ENST00000262477.6_Missense_Mutation_p.V691A|RABEP1_ENST00000537505.1_Missense_Mutation_p.V648A|RABEP1_ENST00000408982.2_Missense_Mutation_p.V691A|RABEP1_ENST00000341923.6_Missense_Mutation_p.V691A|NUP88_ENST00000573169.1_Intron			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	691					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ATCATTAATGTGCGGACAGCA	0.398																																																0													137	132	133					17																	5280457		1892	4110	6002	SO:0001583	missense	9135			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2072T>C	17.37:g.5280457T>C	ENSP00000437701:p.Val691Ala		B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	T	7.991	0.753342	0.15778	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.88	4.88	0.63580	Rabaptin, GTPase-Rab5 binding (1);	0.204938	0.41001	D	0.000964	T	0.22513	0.0543	N	0.11789	0.175	0.80722	D	1	B;B;B;B;B	0.12013	0.004;0.005;0.001;0.003;0.002	B;B;B;B;B	0.10450	0.003;0.005;0.003;0.004;0.004	T	0.08889	-1.0700	10	0.02654	T	1	-17.9722	14.1444	0.65341	0.0:0.0:0.0:1.0	.	648;648;684;691;691	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	A	691;691;684;691;691;648	ENSP00000262477:V691A;ENSP00000386150:V691A;ENSP00000437701:V691A;ENSP00000339569:V691A;ENSP00000445408:V648A	ENSP00000262477:V691A	V	+	2	0	RABEP1	5221181	1.000000	0.71417	0.997000	0.53966	0.594000	0.36715	2.464000	0.45067	2.183000	0.69458	0.533000	0.62120	GTG		0.398	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		C	5280457	T	C	5280457	3	2	183	1	0	0	0	0	1	0	0	0	12967	1696	59	3	2126	3	RABEP1	17	5280457	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	846095	5280457	75914753	613	11310											
ZBTB4	57659	broad.mit.edu	37	17	7365705	7365705	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:7365705T>C	ENST00000311403.4	-	4	2935	c.2596A>G	c.(2596-2598)Agc>Ggc	p.S866G	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S866G	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	866					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TATACATAGCTGCCCCCGCTT	0.622																																																0													26	28	28					17																	7365705		2203	4300	6503	SO:0001583	missense	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2596A>G	17.37:g.7365705T>C	ENSP00000307858:p.Ser866Gly		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	T	0.728	-0.781113	0.02929	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.03717	3.83;3.83	4.18	-0.748	0.11087	.	1.008830	0.07949	N	0.980517	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	10	0.30854	T	0.27	-1.8974	8.1723	0.31262	0.0:0.3914:0.0:0.6086	.	866	Q9P1Z0	ZBTB4_HUMAN	G	866	ENSP00000307858:S866G;ENSP00000369973:S866G	ENSP00000307858:S866G	S	-	1	0	ZBTB4	7306429	0.009000	0.17119	0.028000	0.17463	0.054000	0.15201	-0.045000	0.12003	-0.161000	0.10983	0.533000	0.62120	AGC		0.622	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		C	7365705	T	C	7365705	3	2	183	1	0	0	0	0	1	0	0	0	17546	1580	55	3	449	3	ZBTB4	17	7365705	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2085248	7365705	73829505	614	11311											
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578212	G	A	7578212	4	1	183	1	0	0	0	0	0	1	0	0	16386	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	212507	7578212	73616998	615	11312											
DNAH2	146754	broad.mit.edu	37	17	7728027	7728027	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:7728027G>A	ENST00000572933.1	+	77	13295	c.11835G>A	c.(11833-11835)atG>atA	p.M3945I	DNAH2_ENST00000389173.2_Missense_Mutation_p.M3945I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3945	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCATCAAGATGACCACAGAGC	0.557																																																0													104	89	94					17																	7728027		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11835G>A	17.37:g.7728027G>A	ENSP00000458355:p.Met3945Ile		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434294	0.43224	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.05925	3.37	4.41	3.44	0.39384	Dynein heavy chain (1);	0.096038	0.64402	N	0.000002	T	0.06234	0.0161	L	0.38953	1.18	0.80722	D	1	B;B	0.27732	0.067;0.187	B;B	0.31245	0.047;0.126	T	0.39187	-0.9626	10	0.21540	T	0.41	.	10.89	0.46990	0.0939:0.0:0.9061:0.0	.	3906;3945	Q9P225-2;Q9P225	.;DYH2_HUMAN	I	3906;3945	ENSP00000373825:M3945I	ENSP00000353818:M3906I	M	+	3	0	DNAH2	7668752	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.877000	0.63086	1.078000	0.41014	0.505000	0.49811	ATG		0.557	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7728027	G	A	7728027	3	1	183	1	0	0	0	0	1	0	0	0	4604	1290	45	2	12137	2	DNAH2	17	7728027	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	149815	7728027	73467183	616	11313											
KDM6B	23135	broad.mit.edu	37	17	7748975	7748975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:7748975delC	ENST00000448097.2	+	4	434	c.103delC	c.(103-105)cccfs	p.P37fs	KDM6B_ENST00000254846.5_Frame_Shift_Del_p.P37fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	37	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCGCCTCATCCCCCTCCTCG	0.657																																																0													55	56	56					17																	7748975		2203	4299	6502	SO:0001589	frameshift_variant	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.103delC	17.37:g.7748975delC	ENSP00000412513:p.Pro37fs		C9IZ40|Q96G33	Frame_Shift_Del	DEL	ENST00000448097.2	37																																																																																					0.657	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		-	7748975	C	-	7748975	7	5	183	1	0	1	0	1	0	0	0	0	8140	855	30	0	105	0	KDM6B	17	7748975	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	20948	7748975	73446235	617	11314											
TRAPPC1	58485	broad.mit.edu	37	17	7834023	7834023	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:7834023G>A	ENST00000303731.4	-	4	454	c.339C>T	c.(337-339)ccC>ccT	p.P113P	CNTROB_ENST00000563694.1_5'Flank|CNTROB_ENST00000380255.3_5'Flank|TRAPPC1_ENST00000540486.1_Silent_p.P113P|RP11-1099M24.7_ENST00000573621.1_5'Flank|CNTROB_ENST00000565740.1_5'Flank|CNTROB_ENST00000380262.3_5'Flank|KCNAB3_ENST00000303790.2_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	113					ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				GCGGGCACAGGGGATTCTTCA	0.537																																																0													91	68	76					17																	7834023		2203	4300	6503	SO:0001819	synonymous_variant	58485			AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"Trafficking protein particle complex"	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.339C>T	17.37:g.7834023G>A			D3DTR0	Silent	SNP	ENST00000303731.4	37	CCDS11125.1																																																																																				0.537	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226975.2	NM_021210		A	7834023	G	A	7834023	2	1	183	1	0	0	0	0	0	0	0	1	16461	1219	43	2		2	TRAPPC1	17	7834023	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	85048	7834023	73361187	618	11315											
MYH10	4628	broad.mit.edu	37	17	8409751	8409751	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:8409751G>C	ENST00000269243.4	-	25	3316	c.3178C>G	c.(3178-3180)Ctc>Gtc	p.L1060V	MYH10_ENST00000360416.3_Missense_Mutation_p.L1091V|MYH10_ENST00000396239.1_Missense_Mutation_p.L1081V|MYH10_ENST00000379980.4_Missense_Mutation_p.L1076V	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCCCGTCGAGTTTTCTTTTG	0.512																																																0													146	127	134					17																	8409751		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3178C>G	17.37:g.8409751G>C	ENSP00000269243:p.Leu1060Val		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293441	0.60086	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.87	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	L	0.42245	1.32	0.58432	D	0.999996	B;B;B	0.26195	0.144;0.048;0.144	B;B;B	0.36808	0.117;0.233;0.117	T	0.80659	-0.1284	10	0.87932	D	0	.	13.42	0.60992	0.076:0.0:0.924:0.0	.	1069;1091;1060	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	V	1060;1091;1081;1076	ENSP00000269243:L1060V;ENSP00000353590:L1091V;ENSP00000379539:L1081V;ENSP00000369315:L1076V	ENSP00000269243:L1060V	L	-	1	0	MYH10	8350476	1.000000	0.71417	0.954000	0.39281	0.792000	0.44763	7.766000	0.85320	1.402000	0.46780	0.563000	0.77884	CTC		0.512	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			C	8409751	G	C	8409751	3	2	183	1	0	0	0	0	1	0	0	0	10032	1029	36	4	2820	4	MYH10	17	8409751	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	575728	8409751	72785459	619	11316											
MYH10	4628	broad.mit.edu	37	17	8421992	8421992	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:8421992T>G	ENST00000269243.4	-	19	2506	c.2368A>C	c.(2368-2370)Att>Ctt	p.I790L	MYH10_ENST00000360416.3_Missense_Mutation_p.I821L|MYH10_ENST00000396239.1_Missense_Mutation_p.I811L|MYH10_ENST00000379980.4_Missense_Mutation_p.I806L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	790	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAGAAGATAATGATATCGGTG	0.428																																																0													97	87	91					17																	8421992		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2368A>C	17.37:g.8421992T>G	ENSP00000269243:p.Ile790Leu		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.646612	0.87958	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.51853	1.615	0.58432	D	0.999999	P;P;P	0.48911	0.475;0.917;0.475	D;P;D	0.64237	0.923;0.773;0.923	T	0.40059	-0.9583	10	0.46703	T	0.11	.	14.7985	0.69894	0.0:0.0:0.0:1.0	.	799;821;790	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	L	790;821;811;806	ENSP00000269243:I790L;ENSP00000353590:I821L;ENSP00000379539:I811L;ENSP00000369315:I806L	ENSP00000269243:I790L	I	-	1	0	MYH10	8362717	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.825000	0.86693	2.078000	0.62432	0.524000	0.50904	ATT		0.428	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			G	8421992	T	G	8421992	3	3	183	1	0	0	0	0	1	0	0	0	10032	1464	51	5	3654	5	MYH10	17	8421992	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	12241	8421992	72773218	620	11317											
USP43	124739	broad.mit.edu	37	17	9583621	9583621	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:9583621C>T	ENST00000285199.7	+	6	1139	c.1043C>T	c.(1042-1044)gCa>gTa	p.A348V	USP43_ENST00000570475.1_Missense_Mutation_p.A348V|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	348	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AATACCATCGCAGAGGGAGAT	0.453																																																0													120	112	114					17																	9583621		1873	4104	5977	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1043C>T	17.37:g.9583621C>T	ENSP00000285199:p.Ala348Val		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260798	0.80246	.	.	ENSG00000154914	ENST00000285199	T	0.09911	2.93	5.64	4.62	0.57501	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.346810	0.24732	N	0.036058	T	0.19167	0.0460	L	0.49350	1.555	0.30846	N	0.735165	P;P;P	0.52170	0.951;0.94;0.741	P;P;P	0.56398	0.797;0.695;0.593	T	0.01464	-1.1348	10	0.16896	T	0.51	-1.3676	13.0673	0.59041	0.1614:0.8386:0.0:0.0	.	348;37;348	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	V	348	ENSP00000285199:A348V	ENSP00000285199:A348V	A	+	2	0	USP43	9524346	0.134000	0.22483	0.692000	0.30179	0.940000	0.58332	2.625000	0.46452	2.666000	0.90696	0.591000	0.81541	GCA		0.453	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		T	9583621	C	T	9583621	3	4	183	1	0	0	0	0	1	0	0	0	17079	710	25	2	1065	2	USP43	17	9583621	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1161629	9583621	71611589	621	11318											
USP43	124739	broad.mit.edu	37	17	9631817	9631817	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:9631817T>C	ENST00000285199.7	+	15	2978	c.2882T>C	c.(2881-2883)aTg>aCg	p.M961T	USP43_ENST00000570475.1_Missense_Mutation_p.M956T|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	961					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.M962T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGCTTCCAGATGGGAAGCAAA	0.567																																																1	Substitution - Missense(1)	endometrium(1)											35	39	38					17																	9631817		1960	4146	6106	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2882T>C	17.37:g.9631817T>C	ENSP00000285199:p.Met961Thr		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	T	2.973	-0.212096	0.06140	.	.	ENSG00000154914	ENST00000285199	T	0.07444	3.19	4.74	0.0227	0.14134	.	12.672000	0.00166	N	0.000000	T	0.02767	0.0083	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.35301	-0.9794	10	0.05525	T	0.97	0.4296	3.3948	0.07302	0.1763:0.2358:0.0:0.588	.	956;650;961;473	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	T	961	ENSP00000285199:M961T	ENSP00000285199:M961T	M	+	2	0	USP43	9572542	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.493000	0.06459	-0.171000	0.10797	-0.256000	0.11100	ATG		0.567	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		C	9631817	T	C	9631817	3	2	183	1	0	0	0	0	1	0	0	0	17079	1464	51	3	2940	3	USP43	17	9631817	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	48196	9631817	71563393	622	11319											
MYH8	4626	broad.mit.edu	37	17	10299971	10299971	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:10299971T>C	ENST00000403437.2	-	32	4521	c.4427A>G	c.(4426-4428)gAg>gGg	p.E1476G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1476					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAACGTGACTCCTTCTGGGA	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													101	103	103					17																	10299971		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4427A>G	17.37:g.10299971T>C	ENSP00000384330:p.Glu1476Gly		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813594	0.70912	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86694	-2.16	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.42172	U	0.000755	D	0.93766	0.8007	H	0.97131	3.945	0.58432	D	0.999997	P	0.41345	0.746	P	0.47827	0.558	D	0.95430	0.8515	10	0.87932	D	0	.	15.3476	0.74350	0.0:0.0:0.0:1.0	.	1476	P13535	MYH8_HUMAN	G	1476	ENSP00000384330:E1476G	ENSP00000252173:E1476G	E	-	2	0	MYH8	10240696	1.000000	0.71417	0.999000	0.59377	0.425000	0.31504	7.738000	0.84966	2.215000	0.71742	0.528000	0.53228	GAG		0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		C	10299971	T	C	10299971	3	2	183	1	0	0	0	0	1	0	0	0	10043	1551	54	3	1422	3	MYH8	17	10299971	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	668154	10299971	70895239	623	11320											
MYH8	4626	broad.mit.edu	37	17	10304593	10304593	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:10304593T>C	ENST00000403437.2	-	24	3201	c.3107A>G	c.(3106-3108)gAt>gGt	p.D1036G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1036					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTGCTTACATCATCCACTTG	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													153	150	151					17																	10304593		2203	4300	6503	SO:0001630	splice_region_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3108+1A>G	17.37:g.10304593T>C			Q14910	Splice_Site	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.005344	0.74932	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.92647	-3.08	5.64	5.64	0.86602	.	0.000000	0.42964	U	0.000630	D	0.96445	0.8840	H	0.94582	3.555	0.80722	D	1	D	0.62365	0.991	P	0.55871	0.786	D	0.97371	0.9976	10	0.72032	D	0.01	.	16.0238	0.80522	0.0:0.0:0.0:1.0	.	1036	P13535	MYH8_HUMAN	G	1036	ENSP00000384330:D1036G	ENSP00000252173:D1036G	D	-	2	0	MYH8	10245318	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.585000	0.82584	2.367000	0.80283	0.528000	0.53228	GAT		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Missense_Mutation	C	10304593	T	C	10304593	5	2	183	1	0	0	0	0	0	0	1	0	10043	1449	50	3	2774	3	MYH8	17	10304593	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	4622	10304593	70890617	624	11321											
MYH4	4622	broad.mit.edu	37	17	10348583	10348583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:10348583C>A	ENST00000255381.2	-	36	5376	c.5266G>T	c.(5266-5268)Gag>Tag	p.E1756*	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1756					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTTCTCCTCTGCATTGCGG	0.468																																																0													258	201	221					17																	10348583		2203	4300	6503	SO:0001587	stop_gained	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5266G>T	17.37:g.10348583C>A	ENSP00000255381:p.Glu1756*			Nonsense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	45	11.809529	0.99605	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.58	5.58	0.84498	.	0.000000	0.37623	U	0.002008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.93	0.97115	0.0:1.0:0.0:0.0	.	.	.	.	X	1756	.	ENSP00000255381:E1756X	E	-	1	0	MYH4	10289308	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.769000	0.85360	2.791000	0.96007	0.491000	0.48974	GAG		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10348583	C	A	10348583	4	1	183	1	0	0	0	0	0	1	0	0	10039	922	32	4	573	4	MYH4	17	10348583	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	43990	10348583	70846627	625	11322											
DNAH9	1770	broad.mit.edu	37	17	11550505	11550505	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:11550505T>G	ENST00000262442.4	+	12	2155	c.2087T>G	c.(2086-2088)tTt>tGt	p.F696C	DNAH9_ENST00000454412.2_Missense_Mutation_p.F696C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	696	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTATCAACTTTAACCCACAG	0.418																																																0													157	152	154					17																	11550505		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2087T>G	17.37:g.11550505T>G	ENSP00000262442:p.Phe696Cys		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198123	0.79015	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.73681	-0.77;-0.77	5.33	5.33	0.75918	Dynein heavy chain, domain-1 (1);	2.452250	0.01246	N	0.008749	D	0.90631	0.7062	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76206	-0.3044	10	0.87932	D	0	.	15.6075	0.76685	0.0:0.0:0.0:1.0	.	696	Q9NYC9	DYH9_HUMAN	C	696	ENSP00000262442:F696C;ENSP00000414874:F696C	ENSP00000262442:F696C	F	+	2	0	DNAH9	11491230	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.971000	0.76105	2.154000	0.67381	0.533000	0.62120	TTT		0.418	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		G	11550505	T	G	11550505	3	3	183	1	0	0	0	0	1	0	0	0	4610	1841	64	5	2133	5	DNAH9	17	11550505	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1201922	11550505	69644705	626	11323											
MYOCD	93649	broad.mit.edu	37	17	12626277	12626278	+	Frame_Shift_Ins	INS	-	-	A	rs267604740		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:12626277_12626278insA	ENST00000343344.4	+	5	367_368	c.367_368insA	c.(367-369)gaafs	p.E123fs	MYOCD_ENST00000425538.1_Frame_Shift_Ins_p.E123fs|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Frame_Shift_Ins_p.E27fs			Q8IZQ8	MYCD_HUMAN	myocardin	123					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGAGCTGGTGGAAAAAAACATT	0.47																																																0																																										SO:0001589	frameshift_variant	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.374dupA	17.37:g.12626284_12626284dupA	ENSP00000341835:p.Glu123fs		Q5UBU5|Q8N7Q1	Frame_Shift_Ins	INS	ENST00000343344.4	37	CCDS11163.1																																																																																				0.47	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		A	12626278	-	A	12626277	7	5	183	1	0	1	1	0	0	0	0	0	10089	1175	41	0	385	0	MYOCD	17	12626277	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	1075772	12626277	68568933	627	11324											
ELAC2	60528	broad.mit.edu	37	17	12905673	12905673	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:12905673C>T	ENST00000338034.4	-	14	1461	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	ELAC2_ENST00000395962.2_Missense_Mutation_p.E389K|ELAC2_ENST00000609345.1_5'Flank|ELAC2_ENST00000426905.3_Missense_Mutation_p.E368K	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	408					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GTGGGGCCCTCCTTCTGAAAG	0.572																																																0													77	75	76					17																	12905673		2203	4300	6503	SO:0001583	missense	60528			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1222G>A	17.37:g.12905673C>T	ENSP00000337445:p.Glu408Lys		B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	CCDS11164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.62|12.62	1.993931|1.993931	0.35131|0.35131	.|.	.|.	ENSG00000006744|ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438|ENST00000446899	T;T;T|.	0.63417|.	0.39;-0.03;-0.04|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.415439|.	0.28365|.	N|.	0.015602|.	T|T	0.54029|0.54029	0.1833|0.1833	L|L	0.48642|0.48642	1.525|1.525	0.20196|0.20196	N|N	0.999922|0.999922	P;B;P;B;P;B;B;D|.	0.71674|.	0.554;0.027;0.692;0.027;0.565;0.224;0.048;0.998|.	B;B;B;B;B;B;B;D|.	0.66084|.	0.159;0.017;0.158;0.027;0.159;0.076;0.014;0.941|.	T|T	0.48747|0.48747	-0.9008|-0.9008	10|5	0.16896|.	T|.	0.51|.	-10.2366|-10.2366	17.2701|17.2701	0.87098|0.87098	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	368;391;389;206;408;168;393;36|.	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3|.	.;.;.;.;RNZ2_HUMAN;.;.;.|.	K|E	368;408;389;86|187	ENSP00000405223:E368K;ENSP00000337445:E408K;ENSP00000379291:E389K|.	ENSP00000337445:E408K|.	E|G	-|-	1|2	0|0	ELAC2|ELAC2	12846398|12846398	0.691000|0.691000	0.27709|0.27709	0.172000|0.172000	0.22920|0.22920	0.015000|0.015000	0.08874|0.08874	3.072000|3.072000	0.50049|0.50049	2.687000|2.687000	0.91594|0.91594	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.572	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			T	12905673	C	T	12905673	3	4	183	1	0	0	0	0	1	0	0	0	5049	869	30	2	1302	2	ELAC2	17	12905673	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	279396	12905673	68289537	628	11325											
PEMT	10400	broad.mit.edu	37	17	17425656	17425656	+	Silent	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:17425656G>T	ENST00000395783.1	-	3	326	c.147C>A	c.(145-147)ccC>ccA	p.P49P	PEMT_ENST00000395781.2_Silent_p.P86P|PEMT_ENST00000395782.1_Silent_p.P49P|PEMT_ENST00000435340.2_Silent_p.P64P|PEMT_ENST00000255389.5_Silent_p.P86P	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	49					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		AGGCCAGGTAGGGGGATCCGA	0.572																																																0													122	90	101					17																	17425656		2203	4300	6503	SO:0001819	synonymous_variant	10400			AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.147C>A	17.37:g.17425656G>T			A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Silent	SNP	ENST00000395783.1	37	CCDS11187.1																																																																																				0.572	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131657.1	NM_007169		T	17425656	G	T	17425656	2	4	183	1	0	0	0	0	0	0	0	1	11728	987	35	4		4	PEMT	17	17425656	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	4519983	17425656	63769554	629	11326											
MYO15A	51168	broad.mit.edu	37	17	18059537	18059537	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:18059537C>T	ENST00000205890.5	+	48	8826	c.8488C>T	c.(8488-8490)Ccc>Tcc	p.P2830S	MYO15A_ENST00000418233.3_Missense_Mutation_p.P94S|MYO15A_ENST00000585180.1_Missense_Mutation_p.A92V	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2830	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTGACCATGCCCTCCCAGAA	0.562																																																0													103	105	105					17																	18059537		2073	4210	6283	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8488C>T	17.37:g.18059537C>T	ENSP00000205890:p.Pro2830Ser		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200654	0.58126	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	D	0.88046	-2.33	4.59	4.59	0.56863	.	.	.	.	.	D	0.91865	0.7425	M	0.61703	1.905	0.80722	D	1	D;B;D	0.89917	1.0;0.435;1.0	D;B;D	0.76071	0.987;0.218;0.973	D	0.91168	0.4966	9	0.36615	T	0.2	.	16.3768	0.83409	0.0:1.0:0.0:0.0	.	29;94;2830	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	S	2830;29	ENSP00000205890:P2830S	ENSP00000205890:P2830S	P	+	1	0	MYO15A	18000262	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.709000	0.68384	2.092000	0.63282	0.462000	0.41574	CCC		0.562	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18059537	C	T	18059537	3	4	183	1	0	0	0	0	1	0	0	0	10065	739	26	2	8670	2	MYO15A	17	18059537	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	633881	18059537	63135673	630	11327											
SMCR8	140775	broad.mit.edu	37	17	18219509	18219509	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:18219509G>A	ENST00000406438.3	+	1	886	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	136						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTTTGCATACGTGCACCACCT	0.552																																																0													81	84	83					17																	18219509		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.406G>A	17.37:g.18219509G>A	ENSP00000385025:p.Val136Met		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215281	0.79352	.	.	ENSG00000176994	ENST00000406438	D	0.88741	-2.42	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.94424	0.8206	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94330	0.7561	10	0.87932	D	0	-37.3224	20.073	0.97731	0.0:0.0:1.0:0.0	.	136	Q8TEV9	SMCR8_HUMAN	M	136	ENSP00000385025:V136M	ENSP00000385025:V136M	V	+	1	0	SMCR8	18160234	1.000000	0.71417	0.966000	0.40874	0.983000	0.72400	7.474000	0.81024	2.750000	0.94351	0.655000	0.94253	GTG		0.552	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		A	18219509	G	A	18219509	3	1	183	1	0	0	0	0	1	0	0	0	14798	1145	40	1	408	1	SMCR8	17	18219509	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	159972	18219509	62975701	631	11328											
SLC5A10	125206	broad.mit.edu	37	17	18916767	18916767	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:18916767G>A	ENST00000395645.3	+	10	1045	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	SLC5A10_ENST00000395643.2_Missense_Mutation_p.G316R|SLC5A10_ENST00000395647.2_Missense_Mutation_p.G359R|SLC5A10_ENST00000395642.1_Missense_Mutation_p.G276R|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Missense_Mutation_p.G276R	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	343					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCGGGCCTGCGGGGCCGAGGT	0.642																																																0													58	52	54					17																	18916767		2203	4299	6502	SO:0001583	missense	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1027G>A	17.37:g.18916767G>A	ENSP00000379007:p.Gly343Arg		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175579	0.78564	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000395645;ENST00000395643	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.988;0.993;0.972;0.993	D	0.97211	0.9871	10	0.72032	D	0.01	.	16.1683	0.81786	0.0:0.0:1.0:0.0	.	316;343;359;276	A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;SC5AA_HUMAN;.;.	R	276;359;276;343;316	ENSP00000324346:G276R;ENSP00000379008:G359R;ENSP00000379004:G276R;ENSP00000379007:G343R;ENSP00000379005:G316R	ENSP00000324346:G276R	G	+	1	0	SLC5A10	18857492	1.000000	0.71417	0.988000	0.46212	0.563000	0.35712	9.566000	0.98157	1.978000	0.57642	0.313000	0.20887	GGG		0.642	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		A	18916767	G	A	18916767	3	1	183	1	0	0	0	0	1	0	0	0	14668	1116	39	1	1113	1	SLC5A10	17	18916767	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	697258	18916767	62278443	632	11329											
MFAP4	4239	broad.mit.edu	37	17	19287984	19287984	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:19287984T>C	ENST00000299610.4	-	6	643	c.559A>G	c.(559-561)Acc>Gcc	p.T187A	MFAP4_ENST00000395592.2_Missense_Mutation_p.T211A|MFAP4_ENST00000497081.2_Missense_Mutation_p.T212A|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	187	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CGGTCGAAGGTAGAGAACTTC	0.612																																																0													79	85	83					17																	19287984		2203	4300	6503	SO:0001583	missense	4239			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"Fibrinogen C domain containing"	7035	protein-coding gene	gene with protein product	"microfibril-associated glycoprotein 4"	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.559A>G	17.37:g.19287984T>C	ENSP00000299610:p.Thr187Ala		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	ENST00000299610.4	37	CCDS11208.1	.	.	.	.	.	.	.	.	.	.	t	18.39	3.613938	0.66672	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.40225	1.04;1.04	3.94	3.94	0.45596	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.64402	D	0.000020	T	0.61924	0.2386	M	0.79123	2.44	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.70487	0.963;0.969	T	0.66933	-0.5798	10	0.87932	D	0	.	11.1118	0.48237	0.0:0.0:0.0:1.0	.	187;211	P55083;A8MVM2	MFAP4_HUMAN;.	A	211;187	ENSP00000378957:T211A;ENSP00000299610:T187A	ENSP00000299610:T187A	T	-	1	0	MFAP4	19228577	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.596000	0.82721	1.788000	0.52465	0.449000	0.29647	ACC		0.612	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		C	19287984	T	C	19287984	3	2	183	1	0	0	0	0	1	0	0	0	9519	1638	57	3	212	3	MFAP4	17	19287984	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	371217	19287984	61907226	633	11330											
TMEM97	27346	broad.mit.edu	37	17	26653714	26653714	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:26653714C>T	ENST00000226230.6	+	3	571	c.426C>T	c.(424-426)acC>acT	p.T142T	TMEM97_ENST00000336687.6_Silent_p.T35T|TMEM97_ENST00000583381.1_Silent_p.T35T	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	142					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AACGGTTAACCCTTGTGTCTG	0.408																																																0													131	96	108					17																	26653714		2203	4300	6503	SO:0001819	synonymous_variant	27346			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.426C>T	17.37:g.26653714C>T			B4DS02|Q07823	Silent	SNP	ENST00000226230.6	37	CCDS11226.2																																																																																				0.408	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		T	26653714	C	T	26653714	2	4	183	1	0	0	0	0	0	0	0	1	16229	610	22	2		2	TMEM97	17	26653714	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	7365730	26653714	54541496	634	11331											
NF1	4763	broad.mit.edu	37	17	29556200	29556200	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:29556200G>A	ENST00000358273.4	+	21	2950	c.2567G>A	c.(2566-2568)aGc>aAc	p.S856N	NF1_ENST00000356175.3_Missense_Mutation_p.S856N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	856					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGCAGAGAAGCAATTCTGGC	0.507			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											44	42	43					17																	29556200		2203	4299	6502	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2567G>A	17.37:g.29556200G>A	ENSP00000351015:p.Ser856Asn		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	14.51	2.558404	0.45590	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09911	3.1;3.24;2.93	5.59	4.58	0.56647	Armadillo-type fold (1);	0.083496	0.85682	D	0.000000	T	0.10078	0.0247	L	0.39245	1.2	0.80722	D	1	B;B;B	0.30281	0.009;0.275;0.001	B;B;B	0.24155	0.004;0.051;0.002	T	0.18777	-1.0326	10	0.22706	T	0.39	.	16.5553	0.84483	0.0:0.1301:0.8699:0.0	.	856;856;856	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	N	856;856;522	ENSP00000351015:S856N;ENSP00000348498:S856N;ENSP00000389907:S522N	ENSP00000348498:S856N	S	+	2	0	NF1	26580326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.514000	0.60482	2.634000	0.89283	0.555000	0.69702	AGC		0.507	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		A	29556200	G	A	29556200	3	1	183	1	0	0	0	0	1	0	0	0	10358	971	34	2	2710	2	NF1	17	29556200	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2902486	29556200	51639010	635	11332											
EVI2A	4763	broad.mit.edu	37	17	29647410	29647410	+	Intron	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:29647410C>T	ENST00000358273.4	+	37	5218				EVI2A_ENST00000247270.3_Missense_Mutation_p.A14T|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank|EVI2A_ENST00000461237.1_Intron|NF1_ENST00000581113.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ataggtagggcctgaaagtct	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											79	72	75					17																	29647410		2203	4300	6503	SO:0001627	intron_variant	2123	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4836-5428C>T	17.37:g.29647410C>T			O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752064	0.49362	.	.	ENSG00000126860	ENST00000247270	.	.	.	4.06	0.902	0.19290	.	0.577891	0.13277	N	0.400017	T	0.17874	0.0429	.	.	.	0.09310	N	1	P	0.40731	0.728	B	0.33521	0.165	T	0.16129	-1.0413	8	0.87932	D	0	.	3.5194	0.07736	0.198:0.5886:0.0:0.2134	.	14	P22794-2	.	T	14	.	ENSP00000247270:A14T	A	-	1	0	EVI2A	26671536	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.256000	0.08757	0.257000	0.21650	0.650000	0.86243	GCC		0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29647410	C	T	29647410	1	4	183	0	1	0	0	0	0	0	0	0	5289	739	26	2		2	EVI2A	17	29647410	Intron	SNP	C	TCGA-B0-5098-01A-01D-1421-08	91210	29647410	51547800	636	11333											
NF1	4763	broad.mit.edu	37	17	29664535	29664536	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:29664535_29664536delGA	ENST00000358273.4	+	43	6960_6961	c.6577_6578delGA	c.(6577-6579)gagfs	p.E2193fs	NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Frame_Shift_Del_p.E2172fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2193					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.E2193fs*48(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCTCCTATGAGAGAGAGACT	0.421			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)																																								SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6577_6578delGA	17.37:g.29664543_29664544delGA	ENSP00000351015:p.Glu2193fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.421	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29664536	GA	-	29664535	7	5	183	1	0	1	0	1	0	0	0	0	10358	1291	45	0	6808	0	NF1	17	29664535	Frame_Shift_Del	DEL	GA	TCGA-B0-5098-01A-01D-1421-08	17125	29664535	51530675	637	11334											
PSMD11	5717	broad.mit.edu	37	17	30800953	30800953	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:30800953A>G	ENST00000261712.3	+	7	1041	c.778A>G	c.(778-780)Atg>Gtg	p.M260V	PSMD11_ENST00000457654.2_Missense_Mutation_p.M260V	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	260	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|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)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGCAAAATCATGCTCAACAC	0.483																																					Ovarian(130;1038 1716 9294 11987 19279)											0													183	145	158					17																	30800953		2203	4300	6503	SO:0001583	missense	5717			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.778A>G	17.37:g.30800953A>G	ENSP00000261712:p.Met260Val		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.814542	0.32053	.	.	ENSG00000108671	ENST00000261712	T	0.75367	-0.93	5.22	5.22	0.72569	PCI/PINT associated module (1);	0.040906	0.85682	D	0.000000	T	0.81740	0.4886	M	0.94101	3.495	0.58432	D	0.999999	B;B	0.18610	0.029;0.027	B;B	0.27170	0.077;0.054	T	0.82279	-0.0536	10	0.72032	D	0.01	-12.1272	13.0926	0.59174	1.0:0.0:0.0:0.0	.	260;260	B4DTS5;O00231	.;PSD11_HUMAN	V	260	ENSP00000261712:M260V	ENSP00000261712:M260V	M	+	1	0	PSMD11	27825066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.142000	0.77339	2.185000	0.69588	0.533000	0.62120	ATG		0.483	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		G	30800953	A	G	30800953	3	3	183	1	0	0	0	0	1	0	0	0	12699	217	8	3	804	3	PSMD11	17	30800953	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1136418	30800953	50394257	638	11335											
UNC45B	146862	broad.mit.edu	37	17	33510469	33510469	+	Silent	SNP	C	C	T	rs74403538	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:33510469C>T	ENST00000268876.5	+	19	2500	c.2403C>T	c.(2401-2403)gaC>gaT	p.D801D	UNC45B_ENST00000591048.1_Silent_p.D720D|UNC45B_ENST00000394570.2_Silent_p.D799D|UNC45B_ENST00000378449.1_Silent_p.D720D|UNC45B_ENST00000433649.1_Silent_p.D799D	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	801					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCTTGGCTGACGGGAATGACC	0.567													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		20517	0.0		0.0	False		,,,				2504	0.0															0								C	,	1,4405	2.1+/-5.4	0,1,2202	89	76	81		2397,2403	-2.4	1	17	dbSNP_131	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	UNC45B	NM_001033576.1,NM_173167.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	799/930,801/932	33510469	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2403C>T	17.37:g.33510469C>T			Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																				0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		T	33510469	C	T	33510469	2	4	183	1	0	0	0	0	0	0	0	1	16994	535	19	1		1	UNC45B	17	33510469	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2709516	33510469	47684741	639	11336											
RASL10B	91608	broad.mit.edu	37	17	34068079	34068079	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:34068079A>G	ENST00000268864.3	+	4	744	c.367A>G	c.(367-369)Atc>Gtc	p.I123V		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	123	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAGACGCCCATCATCATCGT	0.647																																																0													50	45	47					17																	34068079		2203	4300	6503	SO:0001583	missense	91608			BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.367A>G	17.37:g.34068079A>G	ENSP00000268864:p.Ile123Val		B3KV31	Missense_Mutation	SNP	ENST00000268864.3	37	CCDS11297.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.346522	0.41599	.	.	ENSG00000141150	ENST00000268864	T	0.80480	-1.38	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000010	T	0.69691	0.3139	L	0.31207	0.915	0.43698	D	0.996155	B	0.30361	0.277	B	0.33454	0.164	T	0.66268	-0.5966	10	0.27785	T	0.31	.	10.0235	0.42057	0.8306:0.1694:0.0:0.0	.	123	Q96S79	RSLAB_HUMAN	V	123	ENSP00000268864:I123V	ENSP00000268864:I123V	I	+	1	0	RASL10B	31092192	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.536000	0.90627	2.036000	0.60181	0.459000	0.35465	ATC		0.647	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256498.2	NM_033315		G	34068079	A	G	34068079	3	3	183	1	0	0	0	0	1	0	0	0	13086	217	8	3	377	3	RASL10B	17	34068079	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	557610	34068079	47127131	640	11337											
TBC1D3B	414059	broad.mit.edu	37	17	34493433	34493433	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:34493433G>A	ENST00000454519.3	-	14	1741	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.S531L	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	531						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		gcaaggccctgaggtgggagc	0.602																																																0													12	20	18					17																	34493433		710	1927	2637	SO:0001583	missense	414059			AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"TBC1 domain family, member 3I"	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.1592C>T	17.37:g.34493433G>A	ENSP00000390852:p.Ser531Leu		A8K892	Missense_Mutation	SNP	ENST00000454519.3	37	CCDS42300.1	.	.	.	.	.	.	.	.	.	.	.	11.37	1.619740	0.28801	.	.	ENSG00000224226	ENST00000398801;ENST00000454519;ENST00000340106	T;T	0.13420	2.59;2.59	.	.	.	.	0.189794	0.21608	U	0.071831	T	0.13970	0.0338	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	D	0.72338	0.977	T	0.09596	-1.0667	8	0.72032	D	0.01	.	.	.	.	.	531	A6NDS4	TBC3B_HUMAN	L	531;531;509	ENSP00000381781:S531L;ENSP00000390852:S531L	ENSP00000340678:S509L	S	-	2	0	TBC1D3B	31517546	0.227000	0.23707	0.017000	0.16124	0.017000	0.09413	0.223000	0.17719	0.172000	0.19760	0.175000	0.17021	TCA		0.602	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256087.3	NM_001001417		A	34493433	G	A	34493433	3	1	183	1	0	0	0	0	1	0	0	0	15625	1294	45	2	61	2	TBC1D3B	17	34493433	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	425354	34493433	46701777	641	11338											
SRCIN1	80725	broad.mit.edu	37	17	36705381	36705381	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:36705381G>T	ENST00000264659.7	-	16	3252	c.3028C>A	c.(3028-3030)Cgc>Agc	p.R1010S	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R1044S|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	882					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AAGCTCCGGCGGGGAGGGGGC	0.662																																																0													21	23	22					17																	36705381		1845	4070	5915	SO:0001583	missense	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3028C>A	17.37:g.36705381G>T	ENSP00000264659:p.Arg1010Ser		Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660222	0.88154	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.60672	0.17	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.73598	2.24	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.79614	-0.1730	10	0.87932	D	0	-22.5682	17.6994	0.88290	0.0:0.0:1.0:0.0	.	882;882;1010	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	S	1010;791;864	ENSP00000264659:R1010S	ENSP00000264659:R1010S	R	-	1	0	SRCIN1	33958907	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.892000	0.75644	2.474000	0.83562	0.555000	0.69702	CGC		0.662	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		T	36705381	G	T	36705381	3	4	183	1	0	0	0	0	1	0	0	0	15141	1116	39	4	539	4	SRCIN1	17	36705381	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2211948	36705381	44489829	642	11339											
PIP4K2B	8396	broad.mit.edu	37	17	36927421	36927421	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:36927421G>A	ENST00000269554.3	-	8	1392	c.912C>T	c.(910-912)gaC>gaT	p.D304D		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	304	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						CACActcctcgtcctctgccc	0.607																																																0													182	134	151					17																	36927421		2203	4300	6503	SO:0001819	synonymous_variant	8396			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.912C>T	17.37:g.36927421G>A			Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	CCDS11329.1																																																																																				0.607	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		A	36927421	G	A	36927421	2	1	183	1	0	0	0	0	0	0	0	1	11939	1136	40	1		1	PIP4K2B	17	36927421	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	222040	36927421	44267789	643	11340											
MED1	5469	broad.mit.edu	37	17	37565271	37565271	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:37565271G>A	ENST00000300651.6	-	17	3426	c.3203C>T	c.(3202-3204)cCt>cTt	p.P1068L	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGTTCCCTTAGGAATCTGAAT	0.512										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)											0													100	97	98					17																	37565271		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3203C>T	17.37:g.37565271G>A	ENSP00000300651:p.Pro1068Leu		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256399	0.59321	.	.	ENSG00000125686	ENST00000300651	T	0.35789	1.29	5.87	5.87	0.94306	.	.	.	.	.	T	0.29491	0.0735	N	0.24115	0.695	0.80722	D	1	P	0.44734	0.842	B	0.37601	0.254	T	0.10706	-1.0618	9	0.72032	D	0.01	-12.7784	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1068	Q15648	MED1_HUMAN	L	1068	ENSP00000300651:P1068L	ENSP00000300651:P1068L	P	-	2	0	MED1	34818797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.627000	0.83176	2.941000	0.99782	0.655000	0.94253	CCT		0.512	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		A	37565271	G	A	37565271	3	1	183	1	0	0	0	0	1	0	0	0	9427	1000	35	2	1546	2	MED1	17	37565271	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	637850	37565271	43629939	644	11341											
CDK12	51755	broad.mit.edu	37	17	37619372	37619372	+	Splice_Site	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:37619372T>C	ENST00000447079.4	+	1	1079		c.e1+2		CDK12_ENST00000430627.2_Splice_Site	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12						mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACTCCCCAGGTGAGCTATTTG	0.552			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													56	54	55					17																	37619372		2203	4300	6503	SO:0001630	splice_region_variant	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1046+2T>C	17.37:g.37619372T>C			A7E2B2|B4DYX4|B9EIQ6|O94978	Splice_Site	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791478	0.70452	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2661	0.73663	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK12	34872898	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.901000	0.75693	2.016000	0.59253	0.533000	0.62120	.		0.552	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	Intron	C	37619372	T	C	37619372	5	2	183	1	0	0	0	0	0	0	1	0	3130	1710	59	3	1050	3	CDK12	17	37619372	Splice_Site	SNP	T	TCGA-B0-5098-01A-01D-1421-08	54101	37619372	43575838	645	11342											
ERBB2	2064	broad.mit.edu	37	17	37882078	37882078	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:37882078C>A	ENST00000269571.5	+	23	3003	c.2844C>A	c.(2842-2844)acC>acA	p.T948T	ERBB2_ENST00000406381.2_Silent_p.T918T|ERBB2_ENST00000540147.1_Silent_p.T918T|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Silent_p.T933T|ERBB2_ENST00000445658.2_Silent_p.T672T|ERBB2_ENST00000584601.1_Silent_p.T918T|ERBB2_ENST00000584450.1_Silent_p.T948T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	948	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCATCTGCACCATTGATGTCT	0.612		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													56	54	54					17																	37882078		2203	4300	6503	SO:0001819	synonymous_variant	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2844C>A	17.37:g.37882078C>A			B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	CCDS32642.1																																																																																				0.612	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			A	37882078	C	A	37882078	2	1	183	1	0	0	0	0	0	0	0	1	5208	581	21	4		4	ERBB2	17	37882078	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	262706	37882078	43313132	646	11343											
ACLY	47	broad.mit.edu	37	17	40049293	40049293	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:40049293G>T	ENST00000352035.2	-	15	1724	c.1594C>A	c.(1594-1596)Cct>Act	p.P532T	ACLY_ENST00000537919.1_Missense_Mutation_p.P261T|ACLY_ENST00000393896.2_Missense_Mutation_p.P522T|ACLY_ENST00000590151.1_Missense_Mutation_p.P532T|ACLY_ENST00000353196.1_Missense_Mutation_p.P522T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	532					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CACGTGAAAGGGTAGACCATG	0.577																																					Colon(64;807 1396 15971 30971)											0													62	62	62					17																	40049293		2203	4300	6503	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1594C>A	17.37:g.40049293G>T	ENSP00000253792:p.Pro532Thr		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029912	0.93575	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	6.08	6.08	0.98989	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91580	0.7340	M	0.86343	2.81	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.996;0.998;0.998;0.999;0.996	D	0.90506	0.4477	10	0.46703	T	0.11	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	261;576;586;522;532	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	T	532;586;522;261;522	ENSP00000253792:P532T;ENSP00000345398:P522T;ENSP00000445349:P261T;ENSP00000377474:P522T	ENSP00000253792:P532T	P	-	1	0	ACLY	37302819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.605000	0.98321	2.894000	0.99253	0.655000	0.94253	CCT		0.577	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		T	40049293	G	T	40049293	3	4	183	1	0	0	0	0	1	0	0	0	143	1232	43	4	1771	4	ACLY	17	40049293	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2167215	40049293	41145917	647	11344											
DHX58	79132	broad.mit.edu	37	17	40263345	40263345	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:40263345G>A	ENST00000251642.3	-	4	561	c.339C>T	c.(337-339)agC>agT	p.S113S		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	113	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCCTCGGGGCTGGTCAGTG	0.632																																																0													46	44	45					17																	40263345		2203	4300	6503	SO:0001819	synonymous_variant	79132			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.339C>T	17.37:g.40263345G>A			Q9HAM6	Silent	SNP	ENST00000251642.3	37	CCDS11416.1																																																																																				0.632	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		A	40263345	G	A	40263345	2	1	183	1	0	0	0	0	0	0	0	1	4516	1194	42	2		2	DHX58	17	40263345	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	214052	40263345	40931865	648	11345											
DHX8	1659	broad.mit.edu	37	17	41582145	41582145	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:41582145G>A	ENST00000262415.3	+	12	1752	c.1680G>A	c.(1678-1680)gaG>gaA	p.E560E	DHX8_ENST00000540306.1_Silent_p.E560E	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	560					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CAATCCTTGAGCAGAGGGAGA	0.463																																					NSCLC(56;1548 1661 49258 49987)											0													107	106	107					17																	41582145		2203	4300	6503	SO:0001819	synonymous_variant	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1680G>A	17.37:g.41582145G>A				Silent	SNP	ENST00000262415.3	37	CCDS11464.1																																																																																				0.463	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			A	41582145	G	A	41582145	2	1	183	1	0	0	0	0	0	0	0	1	4517	962	34	2		2	DHX8	17	41582145	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1318800	41582145	39613065	649	11346											
ACBD4	79777	broad.mit.edu	37	17	43214792	43214793	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:43214792_43214793insC	ENST00000376955.4	+	6	770_771	c.473_474insC	c.(472-477)ctccccfs	p.LP158fs	ACBD4_ENST00000321854.8_Frame_Shift_Ins_p.LP158fs|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000586346.1_Frame_Shift_Ins_p.LP158fs|ACBD4_ENST00000431281.1_Frame_Shift_Ins_p.LP158fs|ACBD4_ENST00000398322.3_Frame_Shift_Ins_p.LP158fs|ACBD4_ENST00000592162.1_Frame_Shift_Ins_p.LP158fs|ACBD4_ENST00000591859.1_Frame_Shift_Ins_p.LP158fs	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	158							fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						CCTCCCTGCCTCCCCAAGGAAC	0.629																																																0																																										SO:0001589	frameshift_variant	79777			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 4"				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.477dupC	17.37:g.43214796_43214796dupC	ENSP00000366154:p.Leu158fs		D3DX64|Q8IUT1|Q9H8Q4	Frame_Shift_Ins	INS	ENST00000376955.4	37	CCDS45711.1																																																																																				0.629	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		C	43214793	-	C	43214792	7	5	183	1	0	1	1	0	0	0	0	0	124	1551	54	0	491	0	ACBD4	17	43214792	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	1632647	43214792	37980418	650	11347											
NPEPPS	9520	broad.mit.edu	37	17	45669320	45669320	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:45669320A>G	ENST00000322157.4	+	11	1497		c.e11-1		NPEPPS_ENST00000530173.1_Splice_Site|NPEPPS_ENST00000525037.1_Splice_Site|NPEPPS_ENST00000544660.1_Splice_Site	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ACTGTCTGCCAGGTCAGTGTG	0.413																																																0													145	92	110					17																	45669320		2065	4186	6251	SO:0001630	splice_region_variant	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1261-1A>G	17.37:g.45669320A>G			B7Z463|Q6P145|Q9NP16|Q9UEM2	Splice_Site	SNP	ENST00000322157.4	37	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277187	0.80580	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6257	0.76855	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPEPPS	43024319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.112000	0.94314	2.099000	0.63709	0.528000	0.53228	.		0.413	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310	Intron	G	45669320	A	G	45669320	5	3	183	1	0	0	0	0	0	0	1	0	10577	202	7	3	1301	3	NPEPPS	17	45669320	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2454528	45669320	35525890	651	11348											
KPNB1	3837	broad.mit.edu	37	17	45757396	45757396	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:45757396G>A	ENST00000290158.4	+	20	2771	c.2364G>A	c.(2362-2364)atG>atA	p.M788I	RP11-138C9.1_ENST00000578482.1_RNA|KPNB1_ENST00000535458.2_Missense_Mutation_p.M643I|KPNB1_ENST00000537679.1_Missense_Mutation_p.M572I|KPNB1_ENST00000540627.1_Missense_Mutation_p.M643I	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	788					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CGGATGTGATGCTGGTACAAC	0.493																																																0													171	178	176					17																	45757396		2203	4300	6503	SO:0001583	missense	3837			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.2364G>A	17.37:g.45757396G>A	ENSP00000290158:p.Met788Ile		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107190	0.56291	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	L	0.34521	1.04	0.41847	D	0.990152	B;B	0.23806	0.091;0.02	B;B	0.20767	0.031;0.008	T	0.57780	-0.7752	9	0.35671	T	0.21	-12.8366	19.2156	0.93776	0.0:0.0:1.0:0.0	.	572;788	F5H4R7;Q14974	.;IMB1_HUMAN	I	643;788;643;572	ENSP00000438253:M643I;ENSP00000290158:M788I;ENSP00000438964:M643I;ENSP00000445006:M572I	ENSP00000290158:M788I	M	+	3	0	KPNB1	43112395	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.576000	0.98192	2.558000	0.86282	0.563000	0.77884	ATG		0.493	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		A	45757396	G	A	45757396	3	1	183	1	0	0	0	0	1	0	0	0	8437	1319	46	2	2442	2	KPNB1	17	45757396	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	88076	45757396	35437814	652	11349											
PHB	5245	broad.mit.edu	37	17	47484173	47484173	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:47484173G>A	ENST00000300408.3	-	6	626	c.554C>T	c.(553-555)gCc>gTc	p.A185V	RP11-1079K10.4_ENST00000506504.3_RNA|PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'UTR|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	185					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CACCTGTTTGGCTTCCACCGC	0.557																																																0													83	79	80					17																	47484173		2203	4298	6501	SO:0001583	missense	5245				CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.554C>T	17.37:g.47484173G>A	ENSP00000300408:p.Ala185Val		B4DY47|Q4VBQ0	Missense_Mutation	SNP	ENST00000300408.3	37	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094003	0.56075	.	.	ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735	D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59	5.39	5.39	0.77823	.	0.200580	0.52532	D	0.000076	D	0.95284	0.8470	M	0.92923	3.36	0.80722	D	1	B	0.09022	0.002	B	0.20767	0.031	D	0.93270	0.6651	10	0.59425	D	0.04	.	12.0956	0.53752	0.0829:0.0:0.9171:0.0	.	185	P35232	PHB_HUMAN	V	185	ENSP00000300408:A185V;ENSP00000393320:A185V;ENSP00000426433:A185V;ENSP00000422182:A185V;ENSP00000407828:A185V	ENSP00000300408:A185V	A	-	2	0	PHB	44839172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.637000	0.67854	2.523000	0.85059	0.655000	0.94253	GCC		0.557	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		A	47484173	G	A	47484173	3	1	183	1	0	0	0	0	1	0	0	0	11816	1203	42	2	272	2	PHB	17	47484173	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1726777	47484173	33711037	653	11350											
BZRAP1	9256	broad.mit.edu	37	17	56388049	56388049	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:56388049C>A	ENST00000343736.4	-	20	3686	c.3523G>T	c.(3523-3525)Ggt>Tgt	p.G1175C	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1115C|BZRAP1_ENST00000355701.3_Missense_Mutation_p.G1175C			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1175						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTTCTCACCCAGGGTAGAT	0.667																																																0													26	21	23					17																	56388049		2201	4296	6497	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3523G>T	17.37:g.56388049C>A	ENSP00000345824:p.Gly1175Cys		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066698	0.55539	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04862	3.54;3.54;3.55	5.81	1.46	0.22682	.	0.807473	0.11802	N	0.528036	T	0.11024	0.0269	L	0.46157	1.445	0.09310	N	1	P;D;D	0.58268	0.855;0.982;0.977	B;P;P	0.57620	0.443;0.824;0.717	T	0.23440	-1.0188	10	0.38643	T	0.18	.	4.0035	0.09590	0.1658:0.5744:0.0:0.2598	.	1175;1115;1175	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	C	1175;1175;1115	ENSP00000347929:G1175C;ENSP00000345824:G1175C;ENSP00000268893:G1115C	ENSP00000268893:G1115C	G	-	1	0	BZRAP1	53743048	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	0.822000	0.27352	0.808000	0.34231	0.462000	0.41574	GGT		0.667	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		A	56388049	C	A	56388049	3	1	183	1	0	0	0	0	1	0	0	0	1579	623	22	4	2098	4	BZRAP1	17	56388049	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	8903876	56388049	24807161	654	11351											
RNF43	54894	broad.mit.edu	37	17	56492887	56492887	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:56492887T>C	ENST00000584437.1	-	1	2007	c.52A>G	c.(52-54)Atg>Gtg	p.M18V	RNF43_ENST00000583753.1_Missense_Mutation_p.M18V|RNF43_ENST00000407977.2_Missense_Mutation_p.M18V|RNF43_ENST00000500597.2_Missense_Mutation_p.M18V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000577716.1_Missense_Mutation_p.M18V|RNF43_ENST00000580014.1_5'Flank			Q68DV7	RNF43_HUMAN	ring finger protein 43	18					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGTAGCCATCAGCAGCCAG	0.557																																																0													38	36	36					17																	56492887		2202	4299	6501	SO:0001583	missense	54894				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.52A>G	17.37:g.56492887T>C	ENSP00000463069:p.Met18Val		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923968	0.73213	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.12984	3.06;2.63	5.69	5.69	0.88448	.	0.075495	0.56097	D	0.000023	T	0.17534	0.0421	N	0.14661	0.345	0.39483	D	0.967912	D;P	0.55385	0.971;0.951	P;P	0.56042	0.79;0.622	T	0.06899	-1.0801	10	0.49607	T	0.09	-12.2112	15.4289	0.75077	0.0:0.0:0.0:1.0	.	18;18	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	V	18	ENSP00000385328:M18V;ENSP00000441969:M18V	ENSP00000385328:M18V	M	-	1	0	RNF43	53847886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.287000	0.59001	2.291000	0.77112	0.533000	0.62120	ATG		0.557	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		C	56492887	T	C	56492887	3	2	183	1	0	0	0	0	1	0	0	0	13501	1435	50	3	2335	3	RNF43	17	56492887	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	104838	56492887	24702323	655	11352											
RPS6KB1	6198	broad.mit.edu	37	17	58012656	58012656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:58012656delA	ENST00000225577.4	+	10	994	c.973delA	c.(973-975)aaafs	p.K326fs	RPS6KB1_ENST00000393021.3_Frame_Shift_Del_p.K273fs|RPS6KB1_ENST00000443572.2_Frame_Shift_Del_p.K303fs|RPS6KB1_ENST00000406116.3_Frame_Shift_Del_p.K326fs	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	326	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			AGATCTGCTTAAAAAGGTAAG	0.338																																																0													42	40	41					17																	58012656		2203	4300	6503	SO:0001589	frameshift_variant	6198			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"ribosomal protein S6 kinase, 70kD, polypeptide 1"	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.973delA	17.37:g.58012656delA	ENSP00000225577:p.Lys326fs		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Frame_Shift_Del	DEL	ENST00000225577.4	37	CCDS11621.1																																																																																				0.338	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		-	58012656	A	-	58012656	7	5	183	1	0	1	0	1	0	0	0	0	13662	363	13	0	1011	0	RPS6KB1	17	58012656	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	1519769	58012656	23182554	656	11353											
HEATR6	63897	broad.mit.edu	37	17	58121377	58121378	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:58121377_58121378delCT	ENST00000184956.6	-	20	3108_3109	c.3092_3093delAG	c.(3091-3093)gagfs	p.E1031fs	AC005702.1_ENST00000581326.1_RNA|AC005702.2_ENST00000577558.1_RNA|AC005702.3_ENST00000582298.1_RNA|AC005702.4_ENST00000583144.1_RNA|MIR4737_ENST00000583979.1_RNA|HEATR6_ENST00000585976.1_Frame_Shift_Del_p.E919fs	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1031							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ACCCGTACTGCTCTCTCTTCCC	0.505																																																0																																										SO:0001589	frameshift_variant	63897			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3092_3093delAG	17.37:g.58121383_58121384delCT	ENSP00000184956:p.Glu1031fs		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Frame_Shift_Del	DEL	ENST00000184956.6	37	CCDS11623.1																																																																																				0.505	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		-	58121378	CT	-	58121377	7	5	183	1	0	1	0	1	0	0	0	0	7035	796	28	0	456	0	HEATR6	17	58121377	Frame_Shift_Del	DEL	CT	TCGA-B0-5098-01A-01D-1421-08	108721	58121377	23073833	657	11354											
INTS2	57508	broad.mit.edu	37	17	59999160	59999160	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:59999160delA	ENST00000444766.3	-	4	560	c.485delT	c.(484-486)ttcfs	p.F162fs	INTS2_ENST00000251334.6_Frame_Shift_Del_p.F154fs	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	162					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AGAAGACTTGAAAAAAAATTC	0.299																																																0													49	47	48					17																	59999160		1795	4062	5857	SO:0001589	frameshift_variant	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.485delT	17.37:g.59999160delA	ENSP00000414237:p.Phe162fs		Q9ULD3	Frame_Shift_Del	DEL	ENST00000444766.3	37	CCDS45750.1																																																																																				0.299	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		-	59999160	A	-	59999160	7	5	183	1	0	1	0	1	0	0	0	0	7780	246	9	0	3217	0	INTS2	17	59999160	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	1877783	59999160	21196050	658	11355											
MAP3K3	4215	broad.mit.edu	37	17	61766161	61766161	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:61766161A>G	ENST00000361733.3	+	10	1111	c.791A>G	c.(790-792)cAg>cGg	p.Q264R	MAP3K3_ENST00000577395.1_Missense_Mutation_p.Q260R|MAP3K3_ENST00000584573.1_Missense_Mutation_p.Q291R|MAP3K3_ENST00000579585.1_Missense_Mutation_p.Q295R|MAP3K3_ENST00000361357.3_Missense_Mutation_p.Q295R|MAP3K3_ENST00000577784.1_3'UTR	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	264					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGGGAAACTCAGCTTTATGAC	0.537																																																0													105	89	94					17																	61766161		2203	4300	6503	SO:0001583	missense	4215			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.791A>G	17.37:g.61766161A>G	ENSP00000354485:p.Gln264Arg		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.587747	0.28268	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.45276	0.9;0.9	5.66	4.57	0.56435	.	0.296345	0.38605	N	0.001637	T	0.35098	0.0920	L	0.36672	1.1	0.47276	D	0.999372	B;B;B;B	0.22746	0.001;0.001;0.074;0.0	B;B;B;B	0.28465	0.003;0.002;0.09;0.003	T	0.07385	-1.0775	10	0.29301	T	0.29	.	12.9133	0.58192	0.8642:0.1358:0.0:0.0	.	260;232;264;295	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	R	295;264	ENSP00000354927:Q295R;ENSP00000354485:Q264R	ENSP00000354927:Q295R	Q	+	2	0	MAP3K3	59119893	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.043000	0.64208	0.965000	0.38133	0.459000	0.35465	CAG		0.537	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		G	61766161	A	G	61766161	3	3	183	1	0	0	0	0	1	0	0	0	9253	188	7	3	926	3	MAP3K3	17	61766161	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1767001	61766161	19429049	659	11356											
STRADA	92335	broad.mit.edu	37	17	61781804	61781804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:61781804delG	ENST00000336174.6	-	11	1109	c.997delC	c.(997-999)cggfs	p.R333fs	STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000447001.3_Frame_Shift_Del_p.R289fs|STRADA_ENST00000582137.1_Frame_Shift_Del_p.R304fs|STRADA_ENST00000392950.4_Frame_Shift_Del_p.R296fs|STRADA_ENST00000375840.4_Frame_Shift_Del_p.R275fs|RP11-51F16.8_ENST00000580553.1_3'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTGGAGGGCCGGGGGGTGCTG	0.647																																																0													30	31	31					17																	61781804		2202	4300	6502	SO:0001589	frameshift_variant	92335			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.997delC	17.37:g.61781804delG	ENSP00000336655:p.Arg333fs		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Frame_Shift_Del	DEL	ENST00000336174.6	37	CCDS32703.1																																																																																				0.647	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			-	61781804	G	-	61781804	7	5	183	1	0	1	0	1	0	0	0	0	15329	1115	39	0	368	0	STRADA	17	61781804	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	15643	61781804	19413406	660	11357											
FTSJ3	11325	broad.mit.edu	37	17	61898462	61898462	+	IGR	SNP	G	G	A	rs145334305	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:61898462G>A	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.R634C	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTTACCACGGAGGGGTTCC	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		19172	0.0		0.0	False		,,,				2504	0.002															0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	74	67	69		1900	0.7	0	17	dbSNP_134	69	0,8600		0,0,4300	no	missense	FTSJ3	NM_017647.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	634/848	61898462	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	117246			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61898462G>A			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555767	0.45487	2.27E-4	0.0	ENSG00000108592	ENST00000427159	T	0.32515	1.45	5.03	0.717	0.18196	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	1.477220	0.04739	N	0.422527	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.27739	-1.0065	10	0.56958	D	0.05	0.7882	5.2675	0.15607	0.1788:0.3211:0.5:0.0	.	634	Q8IY81	RRMJ3_HUMAN	C	634	ENSP00000396673:R634C	ENSP00000396673:R634C	R	-	1	0	FTSJ3	59252194	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.452000	0.21795	0.028000	0.15324	-0.251000	0.11542	CGT		0.532	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		A	61898462	G	A	61898462	1	1	183	0	1	0	0	0	0	0	0	0	6091	1116	39	1		1	FTSJ3	17	61898462	IGR	SNP	G	TCGA-B0-5098-01A-01D-1421-08	116658	61898462	19296748	661	11358											
POLG2	11232	broad.mit.edu	37	17	62487033	62487033	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:62487033G>A	ENST00000539111.2	-	4	916	c.849C>T	c.(847-849)ggC>ggT	p.G283G		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	283					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TTCCTTTCCGGCCTTCTTCAT	0.383																																					Colon(3;18 21 435 17652 48887)											0													107	99	101					17																	62487033		2203	4300	6503	SO:0001819	synonymous_variant	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.849C>T	17.37:g.62487033G>A			O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	ENST00000539111.2	37	CCDS32706.1																																																																																				0.383	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		A	62487033	G	A	62487033	2	1	183	1	0	0	0	0	0	0	0	1	12203	1190	42	2		2	POLG2	17	62487033	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	588571	62487033	18708177	662	11359											
ARSG	22901	broad.mit.edu	37	17	66397567	66397567	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:66397567C>T	ENST00000448504.2	+	11	2075	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	ARSG_ENST00000452479.2_Missense_Mutation_p.R263C|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	427					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCGCCTGGAGCGTTACAAGGC	0.592																																																0													80	74	76					17																	66397567		2203	4300	6503	SO:0001583	missense	22901			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1279C>T	17.37:g.66397567C>T	ENSP00000407193:p.Arg427Cys		Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578159	0.45902	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	D	0.98684	-5.07	4.98	0.581	0.17407	Alkaline-phosphatase-like, core domain (1);	1.930300	0.02171	N	0.059708	D	0.98538	0.9512	M	0.82433	2.59	0.18873	N	0.999984	D	0.76494	0.999	P	0.50270	0.636	D	0.91847	0.5488	10	0.56958	D	0.05	.	8.1355	0.31052	0.402:0.5254:0.0:0.0726	.	427	Q96EG1	ARSG_HUMAN	C	427;326	ENSP00000407193:R326C	ENSP00000407193:R326C	R	+	1	0	ARSG	63909162	0.046000	0.20272	0.065000	0.19835	0.502000	0.33828	0.936000	0.28938	0.071000	0.16664	-0.181000	0.13052	CGT		0.592	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		T	66397567	C	T	66397567	3	4	183	1	0	0	0	0	1	0	0	0	992	768	27	1	1317	1	ARSG	17	66397567	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3910534	66397567	14797643	663	11360											
UBE2O	63893	broad.mit.edu	37	17	74394955	74394957	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:74394955_74394957delGTT	ENST00000319380.7	-	10	1808_1810	c.1744_1746delAAC	c.(1744-1746)aacdel	p.N582del	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	582					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGCAGAACTCGTTGTTGTCCAGG	0.611																																																0																																										SO:0001651	inframe_deletion	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1744_1746delAAC	17.37:g.74394958_74394960delGTT	ENSP00000323687:p.Asn582del		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	In_Frame_Del	DEL	ENST00000319380.7	37	CCDS32742.1																																																																																				0.611	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		-	74394957	GTT	-	74394955	7	5	183	1	0	1	0	1	0	0	0	0	16873	1136	40	0	2168	0	UBE2O	17	74394955	In_Frame_Del	DEL	GTT	TCGA-B0-5098-01A-01D-1421-08	7997388	74394955	6800255	664	11361											
SEC14L1	6397	broad.mit.edu	37	17	75190814	75190814	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:75190814T>C	ENST00000413679.2	+	7	833	c.530T>C	c.(529-531)tTt>tCt	p.F177S	SEC14L1_ENST00000436233.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000430767.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.F177S|SEC14L1_ENST00000392476.2_Missense_Mutation_p.F177S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.F143S|SEC14L1_ENST00000443798.4_Missense_Mutation_p.F177S|SEC14L1_ENST00000431431.2_Missense_Mutation_p.F143S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	177					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGCATAACCTTTGTGCCCCGT	0.438																																																0													110	102	105					17																	75190814		2203	4300	6503	SO:0001583	missense	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.530T>C	17.37:g.75190814T>C	ENSP00000394716:p.Phe177Ser		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.963841	0.34659	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.69685	-0.32;-0.32;-0.32;-0.32;-0.32;-0.42	5.21	4.11	0.48088	.	0.205916	0.52532	D	0.000065	T	0.53158	0.1779	L	0.42245	1.32	0.24121	N	0.995806	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.44159	-0.9346	10	0.38643	T	0.18	-30.9773	5.3939	0.16259	0.1554:0.0815:0.0:0.7631	.	177;177	Q92503-2;Q92503	.;S14L1_HUMAN	S	177;177;177;177;177;143	ENSP00000376268:F177S;ENSP00000406030:F177S;ENSP00000390392:F177S;ENSP00000408169:F177S;ENSP00000394716:F177S;ENSP00000389838:F143S	ENSP00000376268:F177S	F	+	2	0	SEC14L1	72702409	0.881000	0.30235	0.328000	0.25416	0.977000	0.68977	1.954000	0.40362	0.781000	0.33589	0.533000	0.62120	TTT		0.438	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		C	75190814	T	C	75190814	3	2	183	1	0	0	0	0	1	0	0	0	13987	1841	64	3	548	3	SEC14L1	17	75190814	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	795859	75190814	6004396	665	11362											
SOCS3	9021	broad.mit.edu	37	17	76354878	76354878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:76354878delC	ENST00000330871.2	-	2	714	c.299delG	c.(298-300)ggcfs	p.G100fs	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	100	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			AGAGAAGCTGCCCCCCTCACA	0.647																																																0													37	36	36					17																	76354878		2202	4300	6502	SO:0001589	frameshift_variant	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.299delG	17.37:g.76354878delC	ENSP00000330341:p.Gly100fs		O14509	Frame_Shift_Del	DEL	ENST00000330871.2	37	CCDS11756.1																																																																																				0.647	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			-	76354878	C	-	76354878	7	5	183	1	0	1	0	1	0	0	0	0	14921	739	26	0	382	0	SOCS3	17	76354878	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	1164064	76354878	4840332	666	11363											
PGS1	9489	broad.mit.edu	37	17	76388741	76388741	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:76388741A>G	ENST00000262764.6	+	2	354	c.328A>G	c.(328-330)Atg>Gtg	p.M110V	PGS1_ENST00000329897.7_Start_Codon_SNP_p.M1V	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	110					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TTTCGAGCTCATGAAGGTAAG	0.468																																					Esophageal Squamous(45;182 1126 10685 43198)											0													66	67	67					17																	76388741		1867	4109	5976	SO:0001583	missense	9489				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.328A>G	17.37:g.76388741A>G	ENSP00000262764:p.Met110Val		B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.008396	0.35415	.	.	ENSG00000087157	ENST00000262764;ENST00000329897	T	0.20738	2.05	5.38	5.38	0.77491	.	0.046332	0.85682	D	0.000000	T	0.28101	0.0693	M	0.69823	2.125	0.80722	D	1	P	0.38617	0.64	B	0.40602	0.334	T	0.06881	-1.0802	10	0.72032	D	0.01	-16.0185	11.224	0.48873	0.8548:0.0:0.0:0.1452	.	110	Q32NB8	PGPS1_HUMAN	V	110;1	ENSP00000262764:M110V	ENSP00000262764:M110V	M	+	1	0	PGS1	73900336	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.133000	0.42093	2.042000	0.60477	0.482000	0.46254	ATG		0.468	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		G	76388741	A	G	76388741	3	3	183	1	0	0	0	0	1	0	0	0	11810	217	8	3	334	3	PGS1	17	76388741	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	33863	76388741	4806469	667	11364											
DNAH17	8632	broad.mit.edu	37	17	76430163	76430163	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:76430163C>A	ENST00000585328.1	-	75	12281	c.12157G>T	c.(12157-12159)Gac>Tac	p.D4053Y	DNAH17_ENST00000389840.5_Missense_Mutation_p.D4052Y|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4052	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGGTGAGGTCCCCGTTGTTG	0.597																																																0													262	214	230					17																	76430163		2203	4300	6503	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12157G>T	17.37:g.76430163C>A	ENSP00000465516:p.Asp4053Tyr		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	32	5.175587	0.94807	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.34859	1.34	5.64	5.64	0.86602	.	0.199132	0.35013	N	0.003510	T	0.80904	0.4713	H	0.99887	4.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.90189	0.4248	10	0.87932	D	0	.	19.7564	0.96294	0.0:1.0:0.0:0.0	.	4053	E7EUM8	.	Y	4053;4052	ENSP00000374490:D4052Y	ENSP00000300671:D4053Y	D	-	1	0	DNAH17	73941758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.673000	0.83973	2.683000	0.91414	0.555000	0.69702	GAC		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76430163	C	A	76430163	3	1	183	1	0	0	0	0	1	0	0	0	4603	855	30	4	1244	4	DNAH17	17	76430163	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	41422	76430163	4765047	668	11365											
USP36	57602	broad.mit.edu	37	17	76794524	76794524	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:76794524G>A	ENST00000542802.3	-	20	3793	c.3350C>T	c.(3349-3351)gCc>gTc	p.A1117V	USP36_ENST00000312010.6_Missense_Mutation_p.A1117V|USP36_ENST00000449938.2_Missense_Mutation_p.A722V			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1115					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCTGAGGCTGGCAGCCTTTGC	0.542																																																0													134	128	130					17																	76794524		2203	4300	6503	SO:0001583	missense	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.3350C>T	17.37:g.76794524G>A	ENSP00000441214:p.Ala1117Val		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.518942	0.64634	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.23552	2.93;1.9;2.93	4.52	3.47	0.39725	.	0.969853	0.08457	N	0.942926	T	0.29652	0.0740	L	0.54323	1.7	0.18873	N	0.999986	P;B	0.38078	0.617;0.437	B;B	0.39660	0.306;0.115	T	0.15492	-1.0435	10	0.40728	T	0.16	-4.2863	11.949	0.52944	0.0:0.1753:0.8247:0.0	.	1117;722	Q9P275-2;E9PEW0	.;.	V	1117;722;1117	ENSP00000310590:A1117V;ENSP00000401119:A722V;ENSP00000441214:A1117V	ENSP00000310590:A1117V	A	-	2	0	USP36	74306119	0.947000	0.32204	0.659000	0.29680	0.589000	0.36550	1.545000	0.36169	2.047000	0.60756	0.450000	0.29827	GCC		0.542	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		A	76794524	G	A	76794524	3	1	183	1	0	0	0	0	1	0	0	0	17072	1203	42	2	25	2	USP36	17	76794524	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	364361	76794524	4400686	669	11366											
ENPP7	339221	broad.mit.edu	37	17	77710966	77710966	+	Missense_Mutation	SNP	G	G	A	rs140556423		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:77710966G>A	ENST00000328313.5	+	4	1374	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTTGAGAGCGTCCACGTGTA	0.627																																																0								G	ILE/VAL	0,4406		0,0,2203	77	65	69		1153	-1	0.7	17	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENPP7	NM_178543.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	385/459	77710966	1,13005	2203	4300	6503	SO:0001583	missense	339221			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1153G>A	17.37:g.77710966G>A	ENSP00000332656:p.Val385Ile			Missense_Mutation	SNP	ENST00000328313.5	37	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072661	0.36566	0.0	1.16E-4	ENSG00000182156	ENST00000328313	T	0.74947	-0.89	3.51	-1.05	0.10036	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.069888	0.56097	D	0.000026	T	0.45836	0.1362	N	0.04994	-0.135	0.44719	D	0.99771	B	0.23249	0.082	B	0.23419	0.046	T	0.10590	-1.0623	10	0.12766	T	0.61	-38.4788	8.7098	0.34376	0.3318:0.0:0.6682:0.0	.	385	Q6UWV6	ENPP7_HUMAN	I	385	ENSP00000332656:V385I	ENSP00000332656:V385I	V	+	1	0	ENPP7	75325561	0.976000	0.34144	0.687000	0.30102	0.842000	0.47809	1.460000	0.35244	-0.256000	0.09473	-0.254000	0.11334	GTC		0.627	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		A	77710966	G	A	77710966	3	1	183	1	0	0	0	0	1	0	0	0	5137	1145	40	1	1167	1	ENPP7	17	77710966	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	916442	77710966	3484244	670	11367											
EIF4A3	9775	broad.mit.edu	37	17	78113889	78113889	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:78113889A>G	ENST00000269349.3	-	5	644	c.423T>C	c.(421-423)atT>atC	p.I141I		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	141	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGGTGCCTCCAATGCAGGCAT	0.542																																																0													96	77	83					17																	78113889		2203	4300	6503	SO:0001819	synonymous_variant	9775			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"DEAD-boxes"	18683	protein-coding gene	gene with protein product		608546	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 48", "eukaryotic translation initiation factor 4A, isoform 3"	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.423T>C	17.37:g.78113889A>G			Q15033|Q6IBQ2|Q96A18	Silent	SNP	ENST00000269349.3	37	CCDS11767.1																																																																																				0.542	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		G	78113889	A	G	78113889	2	3	183	1	0	0	0	0	0	0	0	1	5028	126	5	3		3	EIF4A3	17	78113889	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	402923	78113889	3081321	671	11368											
RPTOR	57521	broad.mit.edu	37	17	78704364	78704364	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:78704364A>C	ENST00000306801.3	+	5	874	c.512A>C	c.(511-513)tAc>tCc	p.Y171S	RPTOR_ENST00000544334.2_Missense_Mutation_p.Y171S|RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Missense_Mutation_p.Y171S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	171					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TTCTAGAACTACACGCAGTAC	0.512																																																0													158	106	124					17																	78704364		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.512A>C	17.37:g.78704364A>C	ENSP00000307272:p.Tyr171Ser		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998183	0.74818	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.51817	0.69;0.71	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000001	T	0.71031	0.3292	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.71414	0.972;0.973	T	0.76887	-0.2793	10	0.59425	D	0.04	.	14.2096	0.65755	1.0:0.0:0.0:0.0	.	171;171	F5H7J5;Q8N122	.;RPTOR_HUMAN	S	171	ENSP00000307272:Y171S;ENSP00000442479:Y171S	ENSP00000307272:Y171S	Y	+	2	0	RPTOR	76318959	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.026000	0.76455	1.925000	0.55765	0.460000	0.39030	TAC		0.512	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		C	78704364	A	C	78704364	3	2	183	1	0	0	0	0	1	0	0	0	13671	391	14	5	530	5	RPTOR	17	78704364	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	590475	78704364	2490846	672	11369											
BAHCC1	57597	broad.mit.edu	37	17	79409727	79409727	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:79409727A>T	ENST00000307745.7	+	9	1352	c.1352A>T	c.(1351-1353)gAg>gTg	p.E451V																								GGCAAGGGCGAGCGGCGGCCT	0.701																																																0													11	16	14					17																	79409727		1916	4104	6020	SO:0001583	missense	57597																														ENST00000307745.7:c.1352A>T	17.37:g.79409727A>T	ENSP00000303486:p.Glu451Val			Missense_Mutation	SNP	ENST00000307745.7	37		.	.	.	.	.	.	.	.	.	.	a	16.75	3.208246	0.58343	.	.	ENSG00000171282	ENST00000307745	T	0.14391	2.51	3.89	3.89	0.44902	.	.	.	.	.	T	0.13286	0.0322	L	0.29908	0.895	0.30187	N	0.79986	P	0.48911	0.917	B	0.44315	0.446	T	0.03555	-1.1025	9	0.62326	D	0.03	.	11.8568	0.52441	1.0:0.0:0.0:0.0	.	451	Q9P281	BAHC1_HUMAN	V	451	ENSP00000303486:E451V	ENSP00000303486:E451V	E	+	2	0	AC110285.1	77024322	0.871000	0.30034	0.991000	0.47740	0.452000	0.32318	1.643000	0.37217	1.648000	0.50643	0.241000	0.17934	GAG		0.701	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	79409727	A	T	79409727	3	4	183	1	0	0	0	0	1	0	0	0	1296	304	11	5	1201	5	BAHCC1	17	79409727	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	705363	79409727	1785483	673	11370											
FN3KRP	79672	broad.mit.edu	37	17	80684911	80684911	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:80684911G>A	ENST00000269373.6	+	6	867	c.794G>A	c.(793-795)gGc>gAc	p.G265D	RP11-388C12.5_ENST00000570919.1_lincRNA|FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	265				G -> C (in Ref. 4; AAH01458). {ECO:0000305}.			kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCCTACCACGGCAAAATCCCC	0.502																																																0													61	65	64					17																	80684911		2203	4300	6503	SO:0001583	missense	79672			AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.794G>A	17.37:g.80684911G>A	ENSP00000269373:p.Gly265Asp		Q969F4|Q9H0U7	Missense_Mutation	SNP	ENST00000269373.6	37	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	G	7.125	0.578636	0.13686	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.50277	0.75;0.75	5.82	3.82	0.43975	Protein kinase-like domain (1);	0.519883	0.25294	N	0.031701	T	0.24470	0.0593	N	0.05031	-0.125	0.24613	N	0.993718	B	0.10296	0.003	B	0.16722	0.016	T	0.12142	-1.0559	10	0.33141	T	0.24	-18.7461	8.1316	0.31031	0.1411:0.1285:0.7304:0.0	.	265	Q9HA64	KT3K_HUMAN	D	265;215	ENSP00000269373:G265D;ENSP00000444994:G215D	ENSP00000269373:G265D	G	+	2	0	FN3KRP	78278200	0.830000	0.29337	0.918000	0.36340	0.024000	0.10985	2.387000	0.44389	1.472000	0.48140	0.655000	0.94253	GGC		0.502	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		A	80684911	G	A	80684911	3	1	183	1	0	0	0	0	1	0	0	0	5966	1203	42	2	816	2	FN3KRP	17	80684911	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1275184	80684911	510299	674	11371											
ZNF750	79755	broad.mit.edu	37	17	80789303	80789303	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr17:80789303C>T	ENST00000269394.3	-	2	1861	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	343					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R343L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTCTGATCTCGGGTGAGGCC	0.532																																																1	Substitution - Missense(1)	lung(1)											119	130	126					17																	80789303		2203	4300	6503	SO:0001583	missense	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1028G>A	17.37:g.80789303C>T	ENSP00000269394:p.Arg343Gln		Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	6.798	0.516323	0.12944	.	.	ENSG00000141579	ENST00000269394	T	0.14391	2.51	4.77	0.484	0.16825	.	0.376751	0.24415	N	0.038739	T	0.08403	0.0209	L	0.43152	1.355	0.09310	N	0.999999	P	0.36249	0.545	B	0.23716	0.048	T	0.27434	-1.0074	9	.	.	.	-5.7267	8.2821	0.31906	0.0:0.6065:0.0:0.3935	.	343	Q32MQ0	ZN750_HUMAN	Q	343	ENSP00000269394:R343Q	.	R	-	2	0	ZNF750	78382592	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.745000	0.26259	-0.034000	0.13713	-0.253000	0.11424	CGA		0.532	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		T	80789303	C	T	80789303	3	4	183	1	0	0	0	0	1	0	0	0	18137	884	31	1	1151	1	ZNF750	17	80789303	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	104392	80789303	405907	675	11372											
ENOSF1	55556	broad.mit.edu	37	18	697349	697349	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:697349C>T	ENST00000251101.7	-	3	288	c.200G>A	c.(199-201)tGt>tAt	p.C67Y	ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000539164.1_Missense_Mutation_p.C67Y|ENOSF1_ENST00000340116.7_Missense_Mutation_p.C88Y	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	67					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATTCACAGCACAGACAACTAT	0.418																																																0													151	153	152					18																	697349		2203	4300	6503	SO:0001583	missense	55556			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.200G>A	18.37:g.697349C>T	ENSP00000251101:p.Cys67Tyr		A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550026	0.45383	.	.	ENSG00000132199	ENST00000251101;ENST00000340116;ENST00000539164	T;T;T	0.41065	1.01;1.01;1.01	5.49	5.49	0.81192	Mandelate racemase/muconate lactonizing enzyme, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	N	0.19112	0.55	0.49915	D	0.999838	B;B;B	0.26935	0.164;0.164;0.064	B;B;B	0.19148	0.024;0.024;0.014	T	0.11941	-1.0567	10	0.66056	D	0.02	-7.4166	18.2036	0.89847	0.0:1.0:0.0:0.0	.	88;112;67	A6NMP3;Q6ZS08;Q7L5Y1	.;.;ENOF1_HUMAN	Y	67;88;67	ENSP00000251101:C67Y;ENSP00000345974:C88Y;ENSP00000446321:C67Y	ENSP00000251101:C67Y	C	-	2	0	ENOSF1	687349	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.185000	0.72013	2.599000	0.87857	0.650000	0.86243	TGT		0.418	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		T	697349	C	T	697349	3	4	183	1	0	0	0	0	1	0	0	0	5127	478	17	2	1187	2	ENOSF1	18	697349	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08		697349	77379899	676	11373											
MYOM1	8736	broad.mit.edu	37	18	3085102	3085102	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:3085102T>G	ENST00000356443.4	-	31	4613	c.4280A>C	c.(4279-4281)gAa>gCa	p.E1427A	MYOM1_ENST00000261606.7_Missense_Mutation_p.E1331A|MYOM1_ENST00000400569.3_Missense_Mutation_p.E1427A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1427	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGGATAACTTCATAAATCCC	0.438																																																0													95	96	96					18																	3085102		1883	4109	5992	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4280A>C	18.37:g.3085102T>G	ENSP00000348821:p.Glu1427Ala		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	31	5.076121	0.94000	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.72282	-0.64;-0.64;-0.64	6.02	6.02	0.97574	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81103	0.4753	L	0.57536	1.79	0.58432	D	0.999999	P;P	0.43287	0.619;0.802	P;P	0.59221	0.772;0.854	T	0.82006	-0.0671	10	0.72032	D	0.01	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	1331;1427	P52179-2;P52179	.;MYOM1_HUMAN	A	1427;1427;1331	ENSP00000348821:E1427A;ENSP00000383413:E1427A;ENSP00000261606:E1331A	ENSP00000261606:E1331A	E	-	2	0	MYOM1	3075102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.169000	0.71913	2.304000	0.77564	0.528000	0.53228	GAA		0.438	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		G	3085102	T	G	3085102	3	3	183	1	0	0	0	0	1	0	0	0	10093	1783	62	5	809	5	MYOM1	18	3085102	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2387753	3085102	74992146	677	11374											
LAMA1	284217	broad.mit.edu	37	18	6949184	6949184	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:6949184C>A	ENST00000389658.3	-	59	8565	c.8472G>T	c.(8470-8472)gtG>gtT	p.V2824V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2824	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTCCATCTCCCACCACAGTCA	0.483																																																0													96	83	87					18																	6949184		2203	4300	6503	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8472G>T	18.37:g.6949184C>A				Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.483	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	6949184	C	A	6949184	2	1	183	1	0	0	0	0	0	0	0	1	8607	581	21	4		4	LAMA1	18	6949184	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3864082	6949184	71128064	678	11375											
KIAA0802	23255	broad.mit.edu	37	18	8793021	8793021	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:8793021A>T	ENST00000359865.3	+	8	2055	c.1913A>T	c.(1912-1914)gAg>gTg	p.E638V	SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron	NM_015210.3	NP_056025.2																					GTTTTACCTGAGCAGAGTGTA	0.527																																																0													94	105	102					18																	8793021		2203	4300	6503	SO:0001583	missense	23255																														ENST00000359865.3:c.1913A>T	18.37:g.8793021A>T	ENSP00000352927:p.Glu638Val			Missense_Mutation	SNP	ENST00000359865.3	37	CCDS11841.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286397	0.40494	.	.	ENSG00000168502	ENST00000306329;ENST00000359865	T	0.40225	1.04	5.36	4.13	0.48395	.	0.789864	0.10704	N	0.643621	T	0.28300	0.0699	N	0.14661	0.345	0.80722	D	1	B	0.19331	0.035	B	0.16289	0.015	T	0.08472	-1.0720	10	0.52906	T	0.07	.	11.2976	0.49288	0.8104:0.0:0.0:0.1896	.	638	Q9Y4B5-3	.	V	659;638	ENSP00000352927:E638V	ENSP00000305027:E659V	E	+	2	0	CCDC165	8783021	1.000000	0.71417	0.998000	0.56505	0.759000	0.43091	3.328000	0.52052	2.174000	0.68829	0.459000	0.35465	GAG		0.527	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			T	8793021	A	T	8793021	3	4	183	1	0	0	0	0	1	0	0	0	8196	304	11	5	1935	5	KIAA0802	18	8793021	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1843837	8793021	69284227	679	11376											
CTAGE1	64693	broad.mit.edu	37	18	19996082	19996082	+	5'Flank	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:19996082C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.A565T			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CACGGAGGTGCCAGGGGCCCA	0.498																																																0													68	70	69					18																	19996082		2198	4299	6497	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996082C>T	Exception_encountered		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37		.	.	.	.	.	.	.	.	.	.	A	13.67	2.306306	0.40795	.	.	ENSG00000212710	ENST00000391403	T	0.44482	0.92	0.779	-0.834	0.10779	.	.	.	.	.	T	0.17323	0.0416	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.21008	-1.0258	8	.	.	.	.	2.212	0.03950	0.4236:0.3183:0.2581:0.0	.	565	Q96RT6	CTGE2_HUMAN	T	565	ENSP00000375220:A565T	.	A	-	1	0	CTAGE1	18250080	0.986000	0.35501	0.000000	0.03702	0.000000	0.00434	0.919000	0.28692	-1.062000	0.03181	-1.373000	0.01185	GCA		0.498	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		T	19996082	C	T	19996082	1	4	183	0	1	0	0	0	0	0	0	0	3994	739	26	2		2	CTAGE1	18	19996082	5'Flank	SNP	C	TCGA-B0-5098-01A-01D-1421-08	11203061	19996082	58081166	680	11377											
TTC39C	125488	broad.mit.edu	37	18	21710336	21710336	+	Silent	SNP	G	G	A	rs149403354		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:21710336G>A	ENST00000317571.3	+	12	1814	c.1578G>A	c.(1576-1578)ccG>ccA	p.P526P	TTC39C_ENST00000540918.2_Silent_p.P219P|TTC39C_ENST00000304621.6_Silent_p.P465P	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	526										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						ATGTTCAGCCGTATGCCTGTT	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		12950	0.001		0.0	False		,,,				2504	0.0															0								G	,	0,4404		0,0,2202	158	151	154		1578,1395	-12.2	0.4	18	dbSNP_134	154	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous,coding-synonymous	TTC39C	NM_001135993.1,NM_153211.3	,	0,4,6498	AA,AG,GG		0.0465,0.0,0.0308	,	526/584,465/523	21710336	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	125488			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1578G>A	18.37:g.21710336G>A			B7WP63|J3QRR1|Q0VAJ2|Q8N284	Silent	SNP	ENST00000317571.3	37	CCDS45839.1																																																																																				0.308	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		A	21710336	G	A	21710336	2	1	183	1	0	0	0	0	0	0	0	1	16714	1132	40	1		1	TTC39C	18	21710336	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1714254	21710336	56366912	681	11378											
DSC3	1825	broad.mit.edu	37	18	28598103	28598103	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:28598103A>G	ENST00000360428.4	-	9	1277	c.1197T>C	c.(1195-1197)aaT>aaC	p.N399N	DSC3_ENST00000434452.1_Silent_p.N399N	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	399	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTCCATTTTCATTTCCCTTTA	0.303																																																0													113	110	111					18																	28598103		2203	4292	6495	SO:0001819	synonymous_variant	1825			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1197T>C	18.37:g.28598103A>G			A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	CCDS32810.1																																																																																				0.303	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		G	28598103	A	G	28598103	2	3	183	1	0	0	0	0	0	0	0	1	4769	214	8	3		3	DSC3	18	28598103	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	6887767	28598103	49479145	682	11379											
DSG3	1830	broad.mit.edu	37	18	29046491	29046491	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:29046491A>G	ENST00000257189.4	+	11	1494		c.e11-1			NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3						apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGTTCTTACAGAATACACGG	0.358																																																0													90	89	89					18																	29046491		2203	4300	6503	SO:0001630	splice_region_variant	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1412-1A>G	18.37:g.29046491A>G			A8K2V2	Splice_Site	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.215351	0.39102	.	.	ENSG00000134757	ENST00000257189	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2775	0.73753	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSG3	27300489	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	5.782000	0.68973	2.285000	0.76669	0.477000	0.44152	.		0.358	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	Intron	G	29046491	A	G	29046491	5	3	183	1	0	0	0	0	0	0	1	0	4780	202	7	3	1452	3	DSG3	18	29046491	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	448388	29046491	49030757	683	11380											
PIK3C3	5289	broad.mit.edu	37	18	39609379	39609379	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:39609379C>T	ENST00000262039.4	+	15	1767	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	PIK3C3_ENST00000593098.1_Missense_Mutation_p.R46C|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R498C	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	561					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GGCAGTACAACGCGAAAGTGG	0.408										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)											0													148	132	138					18																	39609379		2203	4300	6503	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1681C>T	18.37:g.39609379C>T	ENSP00000262039:p.Arg561Cys		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304099	0.81136	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.81163	-1.46;-1.46	6.17	5.28	0.74379	Protein kinase-like domain (1);	0.154679	0.53938	D	0.000054	D	0.88683	0.6503	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.65443	0.935;0.786	D	0.89155	0.3526	9	.	.	.	.	14.9422	0.71003	0.2676:0.7324:0.0:0.0	.	498;561	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	C	561;498	ENSP00000262039:R561C;ENSP00000381845:R498C	.	R	+	1	0	PIK3C3	37863377	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.499000	0.45372	1.564000	0.49628	0.655000	0.94253	CGC		0.408	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		T	39609379	C	T	39609379	3	4	183	1	0	0	0	0	1	0	0	0	11914	536	19	1	1739	1	PIK3C3	18	39609379	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	10562888	39609379	38467869	684	11381											
CXXC1	30827	broad.mit.edu	37	18	47812979	47812979	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:47812979A>G	ENST00000285106.6	-	3	867	c.153T>C	c.(151-153)caT>caC	p.H51H	CXXC1_ENST00000412036.2_Silent_p.H51H|CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000589940.1_Silent_p.H51H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	51					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGCAGTCCCCATGGAACCACT	0.632																																																0													153	134	140					18																	47812979		2203	4300	6503	SO:0001819	synonymous_variant	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.153T>C	18.37:g.47812979A>G			B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	CCDS11945.1																																																																																				0.632	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		G	47812979	A	G	47812979	2	3	183	1	0	0	0	0	0	0	0	1	4099	214	8	3		3	CXXC1	18	47812979	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	8203600	47812979	30264269	685	11382											
PIGN	23556	broad.mit.edu	37	18	59814310	59814310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:59814310delT	ENST00000357637.5	-	9	1114	c.699delA	c.(697-699)aaafs	p.K233fs	PIGN_ENST00000400334.3_Frame_Shift_Del_p.K233fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	233					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CATCATCAACTTTTTTAATAT	0.303																																																0													70	63	65					18																	59814310		1804	4068	5872	SO:0001589	frameshift_variant	23556			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.699delA	18.37:g.59814310delT	ENSP00000350263:p.Lys233fs		Q7L8F8|Q8TC01|Q9NT05	Frame_Shift_Del	DEL	ENST00000357637.5	37	CCDS45879.1																																																																																				0.303	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		-	59814310	T	-	59814310	7	5	183	1	0	1	0	1	0	0	0	0	11895	1606	56	0	2188	0	PIGN	18	59814310	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	12001331	59814310	18262938	686	11383											
PHLPP1	23239	broad.mit.edu	37	18	60612366	60612366	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:60612366T>C	ENST00000262719.5	+	12	3420	c.3186T>C	c.(3184-3186)ctT>ctC	p.L1062L	PHLPP1_ENST00000400316.4_Silent_p.L550L			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1062				L -> F (in Ref. 4; AAH47653). {ECO:0000305}.	apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TGGAGGAACTTGAAGAAATTG	0.373																																																0													47	45	46					18																	60612366		1866	4106	5972	SO:0001819	synonymous_variant	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3186T>C	18.37:g.60612366T>C			A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	CCDS45881.2																																																																																				0.373	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		C	60612366	T	C	60612366	2	2	183	1	0	0	0	0	0	0	0	1	11856	1799	63	3		3	PHLPP1	18	60612366	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	798056	60612366	17464882	687	11384											
SERPINB13	5275	broad.mit.edu	37	18	61256926	61256926	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:61256926A>T	ENST00000344731.5	+	3	304	c.202A>T	c.(202-204)Ata>Tta	p.I68L	SERPINB13_ENST00000269489.5_Missense_Mutation_p.I68L	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	68					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GAGCTCAAGAATAAAGGCTGA	0.403																																																0													75	65	68					18																	61256926		2203	4300	6503	SO:0001583	missense	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.202A>T	18.37:g.61256926A>T	ENSP00000341584:p.Ile68Leu		A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	A	0.698	-0.791919	0.02884	.	.	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731;ENST00000415733	D;T;T;D	0.83992	-1.79;-1.43;-1.44;-1.54	4.51	-2.62	0.06152	Serpin domain (3);	2.970050	0.00904	N	0.002398	T	0.59404	0.2191	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.53279	-0.8461	10	0.21014	T	0.42	.	4.4013	0.11388	0.3857:0.3308:0.2835:0.0	.	68;68	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	L	98;68;68;68;47	ENSP00000388300:I98L;ENSP00000269489:I68L;ENSP00000341584:I68L;ENSP00000391156:I47L	ENSP00000269489:I68L	I	+	1	0	SERPINB13	59407906	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.286000	0.18902	-0.202000	0.10268	0.533000	0.62120	ATA		0.403	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		T	61256926	A	T	61256926	3	4	183	1	0	0	0	0	1	0	0	0	14106	101	4	5	208	5	SERPINB13	18	61256926	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	644560	61256926	16820322	688	11385											
ZNF236	7776	broad.mit.edu	37	18	74587548	74587548	+	Silent	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:74587548C>A	ENST00000253159.8	+	6	960	c.762C>A	c.(760-762)gcC>gcA	p.A254A	ZNF236_ENST00000320610.9_Silent_p.A256A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	254					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AACCCCATGCCTGTGCCTTCT	0.532											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													124	126	126					18																	74587548		2016	4183	6199	SO:0001819	synonymous_variant	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.762C>A	18.37:g.74587548C>A		1154	B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	CCDS42447.1																																																																																				0.532	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			A	74587548	C	A	74587548	2	1	183	1	0	0	0	0	0	0	0	1	17794	668	24	4		4	ZNF236	18	74587548	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	13330622	74587548	3489700	689	11386											
NFATC1	4772	broad.mit.edu	37	18	77193724	77193724	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:77193724C>A	ENST00000427363.2	+	3	1372	c.1372C>A	c.(1372-1374)Cac>Aac	p.H458N	NFATC1_ENST00000253506.5_Missense_Mutation_p.H458N|NFATC1_ENST00000318065.5_Missense_Mutation_p.H445N|NFATC1_ENST00000586434.1_Missense_Mutation_p.H445N|NFATC1_ENST00000542384.1_Missense_Mutation_p.H458N|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000592223.1_Missense_Mutation_p.H445N|NFATC1_ENST00000591814.1_Missense_Mutation_p.H458N|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.H458N|NFATC1_ENST00000329101.4_Missense_Mutation_p.H445N			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	458	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GGCCGGAGGACACCCCATCGT	0.612																																					GBM(151;1210 2593 28719 45011)											0													48	49	49					18																	77193724		2203	4300	6503	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1372C>A	18.37:g.77193724C>A	ENSP00000389377:p.His458Asn		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	C	18.29	3.591332	0.66219	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.45276	0.9;0.9;0.9	4.49	4.49	0.54785	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.84082	2.675	0.80722	D	1	P;P;P;P;P;D;P	0.58970	0.936;0.936;0.892;0.892;0.892;0.984;0.892	P;P;P;P;P;D;P	0.63877	0.467;0.467;0.564;0.789;0.789;0.919;0.564	T	0.74115	-0.3769	10	0.87932	D	0	-24.9888	17.1628	0.86808	0.0:1.0:0.0:0.0	.	445;445;458;458;458;445;458	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	N	458;458;458;445;445;422	ENSP00000253506:H458N;ENSP00000442435:H458N;ENSP00000327850:H445N	ENSP00000253506:H458N	H	+	1	0	NFATC1	75294712	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	7.334000	0.79224	2.024000	0.59613	0.561000	0.74099	CAC		0.612	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		A	77193724	C	A	77193724	3	1	183	1	0	0	0	0	1	0	0	0	10363	478	17	4	1474	4	NFATC1	18	77193724	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2606176	77193724	883524	690	11387											
ADNP2	22850	broad.mit.edu	37	18	77895513	77895513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr18:77895513delA	ENST00000262198.4	+	4	2672	c.2217delA	c.(2215-2217)ctafs	p.L739fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	739					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CACCATTTCTAAAGTGGATGA	0.502																																																0													157	153	154					18																	77895513		2203	4300	6503	SO:0001589	frameshift_variant	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2217delA	18.37:g.77895513delA	ENSP00000262198:p.Leu739fs		A8K951|O94943|Q9H9P3	Frame_Shift_Del	DEL	ENST00000262198.4	37	CCDS32853.1																																																																																				0.502	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		-	77895513	A	-	77895513	7	5	183	1	0	1	0	1	0	0	0	0	324	349	13	0	2227	0	ADNP2	18	77895513	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	701789	77895513	181735	691	11388											
ELANE	1991	broad.mit.edu	37	19	852901	852901	+	Silent	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:852901G>T	ENST00000590230.1	+	3	234	c.93G>T	c.(91-93)gtG>gtT	p.V31V	ELANE_ENST00000263621.1_Silent_p.V31V			P08246	ELNE_HUMAN	elastase, neutrophil expressed	31	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGGAGATTGTGGGGGGCCGGC	0.726																																																0													9	11	11					19																	852901		2073	4071	6144	SO:0001819	synonymous_variant	1991				CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"neutrophil elastase", "leukocyte elastase", "medullasin"	130130	"elastase 2, neutrophil"	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.93G>T	19.37:g.852901G>T			P09649|Q6B0D9|Q6LDP5	Silent	SNP	ENST00000590230.1	37	CCDS12045.1																																																																																				0.726	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		T	852901	G	T	852901	2	4	183	1	0	0	0	0	0	0	0	1	5050	1335	47	4		4	ELANE	19	852901	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08		852901	58276082	692	11389											
CNN2	1265	broad.mit.edu	37	19	1037669	1037669	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:1037669A>G	ENST00000263097.4	+	7	1063	c.700A>G	c.(700-702)Aag>Gag	p.K234E	CNN2_ENST00000565096.2_Missense_Mutation_p.K223E|CNN2_ENST00000562958.2_Missense_Mutation_p.K255E|ABCA7_ENST00000263094.6_5'Flank|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.K195E	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	234					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATGATACCAAGCTGGGAAC	0.637																																																0													88	101	96					19																	1037669		2184	4269	6453	SO:0001583	missense	1265			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.700A>G	19.37:g.1037669A>G	ENSP00000263097:p.Lys234Glu		A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	37	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	a	25.7	4.661765	0.88154	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.35789	1.37;1.29	4.26	4.26	0.50523	.	0.000000	0.85682	U	0.000000	T	0.48909	0.1526	L	0.58510	1.815	0.44469	D	0.997405	D;D;P;P	0.59357	0.966;0.985;0.79;0.818	B;P;B;P	0.58013	0.395;0.831;0.318;0.462	T	0.52011	-0.8632	10	0.72032	D	0.01	.	11.3566	0.49620	1.0:0.0:0.0:0.0	.	255;223;195;234	B4DUT8;B4DDF4;A6NFI4;Q99439	.;.;.;CNN2_HUMAN	E	234;195;213	ENSP00000263097:K234E;ENSP00000340129:K195E	ENSP00000263097:K234E	K	+	1	0	CNN2	988669	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.277000	0.89896	1.782000	0.52362	0.454000	0.30748	AAG		0.637	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		G	1037669	A	G	1037669	3	3	183	1	0	0	0	0	1	0	0	0	3612	131	5	3	726	3	CNN2	19	1037669	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	184768	1037669	58091314	693	11390											
C19orf35	374872	broad.mit.edu	37	19	2275750	2275750	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:2275750G>A	ENST00000342063.3	-	4	1444	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	451										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCAACACAGCCAGTCCTCG	0.721																																																0													11	11	11					19																	2275750		2172	4233	6405	SO:0001819	synonymous_variant	374872			AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.1351C>T	19.37:g.2275750G>A				Silent	SNP	ENST00000342063.3	37	CCDS12087.1																																																																																				0.721	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		A	2275750	G	A	2275750	2	1	183	1	0	0	0	0	0	0	0	1	1922	962	34	2		2	C19orf35	19	2275750	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1238081	2275750	56853233	694	11391											
ZNF57	126295	broad.mit.edu	37	19	2918270	2918270	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:2918270A>G	ENST00000306908.5	+	4	1799	c.1651A>G	c.(1651-1653)Agt>Ggt	p.S551G	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.S519G	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTAAAACCAGTGAGAGCAC	0.408																																					NSCLC(150;910 1964 4303 10464 26498)											0													72	73	73					19																	2918270		2202	4299	6501	SO:0001583	missense	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1651A>G	19.37:g.2918270A>G	ENSP00000303696:p.Ser551Gly		Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.748641	0.00669	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.05786	3.49;3.39	1.34	-2.68	0.06041	.	.	.	.	.	T	0.04048	0.0113	L	0.34521	1.04	0.09310	N	1	B	0.22003	0.063	B	0.11329	0.006	T	0.42832	-0.9428	9	0.87932	D	0	.	0.0541	0.00013	0.3472:0.1863:0.1886:0.2779	.	551	Q68EA5	ZNF57_HUMAN	G	551;553;519	ENSP00000303696:S551G;ENSP00000430223:S519G	ENSP00000303696:S551G	S	+	1	0	ZNF57	2869270	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.442000	0.06871	-1.297000	0.02351	-0.876000	0.02978	AGT		0.408	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		G	2918270	A	G	2918270	3	3	183	1	0	0	0	0	1	0	0	0	18006	188	7	3	1665	3	ZNF57	19	2918270	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	642520	2918270	56210713	695	11392											
MCOLN1	57192	broad.mit.edu	37	19	7595355	7595355	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:7595355G>A	ENST00000264079.6	+	12	1668	c.1543G>A	c.(1543-1545)Gcg>Acg	p.A515T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	515					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTCTTCATCGCGCTCATCAC	0.622																																																0													206	195	199					19																	7595355		2203	4300	6503	SO:0001583	missense	57192			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1543G>A	19.37:g.7595355G>A	ENSP00000264079:p.Ala515Thr		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692800	0.88735	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.74315	-0.83	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.76126	0.3944	L	0.42245	1.32	0.80722	D	1	D;D	0.59767	0.965;0.986	P;P	0.52189	0.688;0.692	T	0.77127	-0.2702	10	0.48119	T	0.1	.	16.4162	0.83743	0.0:0.0:1.0:0.0	.	480;515	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	T	515;480	ENSP00000264079:A515T	ENSP00000264079:A515T	A	+	1	0	MCOLN1	7501355	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	9.476000	0.97823	2.478000	0.83669	0.563000	0.77884	GCG		0.622	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		A	7595355	G	A	7595355	3	1	183	1	0	0	0	0	1	0	0	0	9397	1087	38	1	1589	1	MCOLN1	19	7595355	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	4677085	7595355	51533628	696	11393											
KIAA1543	57662	broad.mit.edu	37	19	7677807	7677807	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:7677807C>A	ENST00000160298.4	+	11	2529	c.2428C>A	c.(2428-2430)Ctg>Atg	p.L810M	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.L837M	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	810	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTCCCCCACCTGCGCAAGTT	0.721																																																0													15	19	17					19																	7677807		2010	4134	6144	SO:0001583	missense	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2428C>A	19.37:g.7677807C>A	ENSP00000160298:p.Leu810Met		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	17.75	3.465966	0.63625	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.30182	1.56;1.54	5.21	3.07	0.35406	.	0.076287	0.52532	D	0.000069	T	0.51856	0.1699	M	0.75085	2.285	0.30234	N	0.795613	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.988	T	0.54925	-0.8220	10	0.66056	D	0.02	-19.3526	10.4882	0.44735	0.0:0.8396:0.0:0.1604	.	810;837	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	M	837;810	ENSP00000416797:L837M;ENSP00000160298:L810M	ENSP00000160298:L810M	L	+	1	2	KIAA1543	7583807	0.650000	0.27331	1.000000	0.80357	0.996000	0.88848	0.795000	0.26972	0.584000	0.29591	0.551000	0.68910	CTG		0.721	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		A	7677807	C	A	7677807	3	1	183	1	0	0	0	0	1	0	0	0	8245	680	24	4	2559	4	KIAA1543	19	7677807	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	82452	7677807	51451176	697	11394											
MUC16	94025	broad.mit.edu	37	19	9059693	9059701	+	In_Frame_Del	DEL	TGTGGCCTT	TGTGGCCTT	-	rs376062753		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:9059693_9059701delTGTGGCCTT	ENST00000397910.4	-	3	27948_27956	c.27745_27753delAAGGCCACA	c.(27745-27753)aaggccacadel	p.KAT9249del		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9251	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATTGAAGATGTGGCCTTTGTTGTCACT	0.45																																																0																																										SO:0001651	inframe_deletion	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27745_27753delAAGGCCACA	19.37:g.9059693_9059701delTGTGGCCTT	ENSP00000381008:p.Lys9249_Thr9251del		Q6ZQW5|Q96RK2	In_Frame_Del	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																				0.45	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		-	9059701	TGTGGCCTT	-	9059693	7	5	183	1	0	1	0	1	0	0	0	0	9975	1451	51	0	16098	0	MUC16	19	9059693	In_Frame_Del	DEL	TGTGGCCTT	TCGA-B0-5098-01A-01D-1421-08	1381886	9059693	50069290	698	11395											
ZNF846	162993	broad.mit.edu	37	19	9868821	9868821	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:9868821A>G	ENST00000397902.2	-	6	1345	c.932T>C	c.(931-933)gTa>gCa	p.V311A	ZNF846_ENST00000588267.1_Missense_Mutation_p.V182A|ZNF846_ENST00000592859.1_Missense_Mutation_p.V182A|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTCCATACATACATAGGGCTT	0.398																																																0													68	71	70					19																	9868821		2125	4258	6383	SO:0001583	missense	162993			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.932T>C	19.37:g.9868821A>G	ENSP00000380999:p.Val311Ala		A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	14.39	2.520704	0.44866	.	.	ENSG00000196605	ENST00000397902	T	0.07114	3.22	1.91	-2.26	0.06867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	N	0.13371	0.34	0.09310	N	1	B	0.19583	0.037	B	0.20184	0.028	T	0.45512	-0.9256	8	.	.	.	.	3.3948	0.07302	0.2616:0.0:0.141:0.5974	.	311	Q147U1	ZN846_HUMAN	A	311	ENSP00000380999:V311A	.	V	-	2	0	ZNF846	9729821	0.000000	0.05858	0.000000	0.03702	0.932000	0.56968	-2.461000	0.00998	-0.733000	0.04850	0.374000	0.22700	GTA		0.398	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		G	9868821	A	G	9868821	3	3	183	1	0	0	0	0	1	0	0	0	18197	391	14	3	673	3	ZNF846	19	9868821	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	809128	9868821	49260162	699	11396											
ILF3	3609	broad.mit.edu	37	19	10787852	10787852	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:10787852A>G	ENST00000590261.1	+	4	425	c.425A>G	c.(424-426)gAc>gGc	p.D142G	ILF3_ENST00000318511.3_Missense_Mutation_p.D142G|ILF3_ENST00000588657.1_Missense_Mutation_p.D142G|ILF3_ENST00000250241.8_Missense_Mutation_p.D142G|ILF3_ENST00000592763.1_Missense_Mutation_p.D142G|ILF3_ENST00000449870.1_Missense_Mutation_p.D142G|ILF3_ENST00000420083.1_Missense_Mutation_p.D142G|ILF3_ENST00000407004.3_Missense_Mutation_p.D142G|ILF3_ENST00000589998.1_Missense_Mutation_p.D142G			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	142	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GTAACAGAAGACAAGTACGAA	0.403																																																0													131	132	132					19																	10787852		2203	4300	6503	SO:0001583	missense	3609			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.425A>G	19.37:g.10787852A>G	ENSP00000468156:p.Asp142Gly		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.524251	0.64747	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.7	5.7	0.88788	DZF (2);	0.107337	0.64402	D	0.000009	T	0.64505	0.2604	L	0.58101	1.795	0.80722	D	1	D;D;B;D;D	0.71674	0.997;0.998;0.044;0.986;0.986	D;D;B;P;P	0.69824	0.942;0.966;0.03;0.737;0.783	T	0.66110	-0.6005	10	0.56958	D	0.05	.	14.94	0.70986	1.0:0.0:0.0:0.0	.	142;142;142;142;142	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	G	142	ENSP00000404121:D142G;ENSP00000315205:D142G;ENSP00000405436:D142G;ENSP00000384660:D142G;ENSP00000250241:D142G	ENSP00000250241:D142G	D	+	2	0	ILF3	10648852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.923000	0.92808	2.161000	0.67846	0.528000	0.53228	GAC		0.403	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			G	10787852	A	G	10787852	3	3	183	1	0	0	0	0	1	0	0	0	7714	275	10	3	439	3	ILF3	19	10787852	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	919031	10787852	48341131	700	11397											
SMARCA4	6597	broad.mit.edu	37	19	11143964	11143964	+	Splice_Site	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:11143964A>G	ENST00000429416.3	+	27	3827		c.e27-1		SMARCA4_ENST00000541122.2_Splice_Site|SMARCA4_ENST00000413806.3_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000590574.1_Splice_Site|SMARCA4_ENST00000358026.2_Splice_Site|SMARCA4_ENST00000589677.1_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000450717.3_Splice_Site	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCTTCCCCCAGGACCTGCAA	0.627			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											39	41	40					19																	11143964		2203	4298	6501	SO:0001630	splice_region_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3547-1A>G	19.37:g.11143964A>G			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Splice_Site	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883824	0.51908	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3948	0.60846	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCA4	11004964	1.000000	0.71417	0.957000	0.39632	0.738000	0.42128	8.821000	0.92009	2.012000	0.59069	0.456000	0.33151	.		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	Intron	G	11143964	A	G	11143964	5	3	183	1	0	0	0	0	0	0	1	0	14776	202	7	3	3643	3	SMARCA4	19	11143964	Splice_Site	SNP	A	TCGA-B0-5098-01A-01D-1421-08	356112	11143964	47985019	701	11398											
ZNF433	163059	broad.mit.edu	37	19	12126007	12126007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:12126007C>A	ENST00000344980.6	-	4	1845	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Nonsense_Mutation_p.E524*|CTD-2006C1.2_ENST00000495324.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TAAGGTTTCTCTCCAGTGTGA	0.458																																																0													99	103	102					19																	12126007		2202	4300	6502	SO:0001587	stop_gained	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1675G>T	19.37:g.12126007C>A	ENSP00000339767:p.Glu559*		Q86VX3	Nonsense_Mutation	SNP	ENST00000344980.6	37	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	C	38	7.099001	0.98063	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.3795	0.44104	0.0:1.0:0.0:0.0	.	.	.	.	X	524;559	.	ENSP00000339767:E559X	E	-	1	0	ZNF433	11987007	0.850000	0.29656	0.482000	0.27366	0.914000	0.54420	3.203000	0.51075	1.062000	0.40625	0.298000	0.19748	GAG		0.458	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		A	12126007	C	A	12126007	4	1	183	1	0	0	0	0	0	1	0	0	17912	922	32	4	350	4	ZNF433	19	12126007	Nonsense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	982043	12126007	47002976	702	11399											
TRMT1	55621	broad.mit.edu	37	19	13220782	13220782	+	Silent	SNP	G	G	A	rs139341662	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:13220782G>A	ENST00000592062.1	-	10	1623	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	TRMT1_ENST00000357720.4_Silent_p.C351C|TRMT1_ENST00000221504.8_Intron|TRMT1_ENST00000437766.1_Silent_p.C351C			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	351	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGAAGGCCCCGCAGCCCACAC	0.642																																																0								G	,,	1,4405	2.1+/-5.4	0,1,2202	56	61	59		1053,,1053	-0.8	1	19	dbSNP_134	59	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,intron,coding-synonymous	TRMT1	NM_001136035.2,NM_001142554.1,NM_017722.3	,,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,,	351/660,,351/660	13220782	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55621			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1053C>T	19.37:g.13220782G>A			O76103|Q548Y5|Q8WVA6	Silent	SNP	ENST00000592062.1	37	CCDS12293.1																																																																																				0.642	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		A	13220782	G	A	13220782	2	1	183	1	0	0	0	0	0	0	0	1	16566	1079	38	1		1	TRMT1	19	13220782	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1094775	13220782	45908201	703	11400											
DDA1	79016	broad.mit.edu	37	19	17430418	17430418	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:17430418C>T	ENST00000359866.4	+	5	386	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	88										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGCACCTCCCCGCAAGGTGGC	0.627																																																0													39	35	36					19																	17430418		2178	4273	6451	SO:0001583	missense	79016			BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 58"	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.262C>T	19.37:g.17430418C>T	ENSP00000352928:p.Arg88Cys			Missense_Mutation	SNP	ENST00000359866.4	37	CCDS12357.1	.	.	.	.	.	.	.	.	.	.	c	15.32	2.799000	0.50208	.	.	ENSG00000130311	ENST00000359866	.	.	.	4.33	4.33	0.51752	.	0.211693	0.37955	N	0.001868	T	0.51584	0.1683	L	0.34521	1.04	0.80722	D	1	B	0.16166	0.016	B	0.04013	0.001	T	0.52653	-0.8547	9	0.54805	T	0.06	-3.9315	14.3557	0.66735	0.0:1.0:0.0:0.0	.	88	Q9BW61	DDA1_HUMAN	C	88	.	ENSP00000352928:R88C	R	+	1	0	DDA1	17291418	0.991000	0.36638	0.995000	0.50966	0.946000	0.59487	3.029000	0.49712	1.984000	0.57885	0.457000	0.33378	CGC		0.627	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050		T	17430418	C	T	17430418	3	4	183	1	0	0	0	0	1	0	0	0	4322	652	23	1	280	1	DDA1	19	17430418	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	4209636	17430418	41698565	704	11401											
PDE4C	5143	broad.mit.edu	37	19	18329753	18329753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:18329753delA	ENST00000355502.3	-	13	1933	c.1062delT	c.(1060-1062)tttfs	p.F354fs	PDE4C_ENST00000262805.12_Frame_Shift_Del_p.F322fs|PDE4C_ENST00000447275.3_Frame_Shift_Del_p.F248fs|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Frame_Shift_Del_p.F123fs|PDE4C_ENST00000598111.2_Frame_Shift_Del_p.F124fs|PDE4C_ENST00000594617.3_Frame_Shift_Del_p.F354fs|PDE4C_ENST00000597297.1_Frame_Shift_Del_p.F124fs|PDE4C_ENST00000594465.3_Frame_Shift_Del_p.F354fs			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	354					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TAGGTACCTGAAAAATGCTGA	0.507																																																0													84	81	82					19																	18329753		2203	4300	6503	SO:0001589	frameshift_variant	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1062delT	19.37:g.18329753delA	ENSP00000347689:p.Phe354fs		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Frame_Shift_Del	DEL	ENST00000355502.3	37	CCDS12373.1																																																																																				0.507	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			-	18329753	A	-	18329753	7	5	183	1	0	1	0	1	0	0	0	0	11643	243	9	0	1104	0	PDE4C	19	18329753	Frame_Shift_Del	DEL	A	TCGA-B0-5098-01A-01D-1421-08	899335	18329753	40799230	705	11402											
GATAD2A	54815	broad.mit.edu	37	19	19609378	19609378	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:19609378G>A	ENST00000360315.3	+	8	1363	c.1051G>A	c.(1051-1053)Gcg>Acg	p.A351T	GATAD2A_ENST00000404158.1_Missense_Mutation_p.A351T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A351T|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A178T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A351T	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	351	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGCCAAGCTGGCGCTGCGCAA	0.647																																																0													34	37	36					19																	19609378		2202	4300	6502	SO:0001583	missense	54815			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1051G>A	19.37:g.19609378G>A	ENSP00000353463:p.Ala351Thr		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612977	0.87258	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T;T	0.61392	0.85;0.5;1.13;0.85;0.11	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.78513	-0.2175	9	.	.	.	-26.9323	18.3542	0.90351	0.0:0.0:1.0:0.0	.	178;370;351	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	T	351;351;370;351;178	ENSP00000353463:A351T;ENSP00000252577:A351T;ENSP00000384899:A370T;ENSP00000351552:A351T;ENSP00000388416:A178T	.	A	+	1	0	GATAD2A	19470378	1.000000	0.71417	0.800000	0.32199	0.160000	0.22226	9.841000	0.99482	2.691000	0.91804	0.650000	0.86243	GCG		0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		A	19609378	G	A	19609378	3	1	183	1	0	0	0	0	1	0	0	0	6262	1203	42	2	1077	2	GATAD2A	19	19609378	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1279625	19609378	39519605	706	11403											
ZNF98	148198	broad.mit.edu	37	19	22574543	22574543	+	Silent	SNP	A	A	G	rs74169607		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:22574543A>G	ENST00000357774.5	-	4	1615	c.1494T>C	c.(1492-1494)gcT>gcC	p.A498A		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A498A(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACTGGTTAAAAGCTTTGCCAC	0.398																																																2	Substitution - coding silent(2)	large_intestine(2)											73	65	68					19																	22574543		2187	4283	6470	SO:0001819	synonymous_variant	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1494T>C	19.37:g.22574543A>G				Silent	SNP	ENST00000357774.5	37	CCDS46031.1																																																																																				0.398	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		G	22574543	A	G	22574543	2	3	183	1	0	0	0	0	0	0	0	1	18208	59	3	3		3	ZNF98	19	22574543	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2965165	22574543	36554440	707	11404											
GAPDHS	26330	broad.mit.edu	37	19	36029483	36029483	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:36029483A>G	ENST00000222286.4	+	4	463	c.347A>G	c.(346-348)tAc>tGc	p.Y116C	AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	116					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCACAGGTGTACATGTTTAAG	0.522																																																0													104	93	97					19																	36029483		2203	4300	6503	SO:0001583	missense	26330			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.347A>G	19.37:g.36029483A>G	ENSP00000222286:p.Tyr116Cys		B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	37	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350237	0.82132	.	.	ENSG00000105679	ENST00000222286	T	0.52754	0.65	5.3	5.3	0.74995	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.74122	0.3675	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80600	-0.1310	10	0.87932	D	0	-22.1236	13.1951	0.59734	1.0:0.0:0.0:0.0	.	116	O14556	G3PT_HUMAN	C	116	ENSP00000222286:Y116C	ENSP00000222286:Y116C	Y	+	2	0	GAPDHS	40721323	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.250000	0.95477	1.983000	0.57843	0.533000	0.62120	TAC		0.522	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		G	36029483	A	G	36029483	3	3	183	1	0	0	0	0	1	0	0	0	6239	391	14	3	361	3	GAPDHS	19	36029483	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	13454940	36029483	23099500	708	11405											
ATP4A	495	broad.mit.edu	37	19	36047924	36047924	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:36047924A>G	ENST00000262623.3	-	12	1788	c.1760T>C	c.(1759-1761)aTg>aCg	p.M587T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	587					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TGGAAAGTTCATGGCCTCTAC	0.587																																																0													81	75	77					19																	36047924		2203	4300	6503	SO:0001583	missense	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1760T>C	19.37:g.36047924A>G	ENSP00000262623:p.Met587Thr		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.171311	0.57584	.	.	ENSG00000105675	ENST00000262623	T	0.78481	-1.18	5.14	5.14	0.70334	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	N	0.04880	-0.145	0.42819	D	0.993985	P	0.42518	0.782	P	0.58210	0.835	T	0.76745	-0.2846	10	0.44086	T	0.13	.	12.9428	0.58354	1.0:0.0:0.0:0.0	.	587	P20648	ATP4A_HUMAN	T	587	ENSP00000262623:M587T	ENSP00000262623:M587T	M	-	2	0	ATP4A	40739764	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	6.109000	0.71528	2.158000	0.67659	0.482000	0.46254	ATG		0.587	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		G	36047924	A	G	36047924	3	3	183	1	0	0	0	0	1	0	0	0	1145	217	8	3	1391	3	ATP4A	19	36047924	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	18441	36047924	23081059	709	11406											
RBM42	79171	broad.mit.edu	37	19	36128233	36128233	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:36128233C>T	ENST00000262633.4	+	9	1414	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	RBM42_ENST00000588161.1_Missense_Mutation_p.R407C|RBM42_ENST00000586618.1_Missense_Mutation_p.R141C|RBM42_ENST00000589871.1_Missense_Mutation_p.R415C|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000592202.1_Missense_Mutation_p.R383C|RBM42_ENST00000360475.4_Missense_Mutation_p.R408C	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	437	Necessary for interaction with HNRNPK. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACTACGTGCGCGCCATGCG	0.632																																																0													97	78	84					19																	36128233		2203	4300	6503	SO:0001583	missense	79171			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"RNA binding motif (RRM) containing"	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1309C>T	19.37:g.36128233C>T	ENSP00000262633:p.Arg437Cys		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067102	0.55539	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.17691	2.26;2.26	5.78	3.56	0.40772	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;0.995	D;P;D;P	0.74674	0.981;0.656;0.984;0.832	T	0.25745	-1.0123	10	0.87932	D	0	-5.743	9.1981	0.37240	0.2834:0.5771:0.1395:0.0	.	403;408;407;437	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	C	437;408	ENSP00000262633:R437C;ENSP00000353663:R408C	ENSP00000262633:R437C	R	+	1	0	RBM42	40820073	0.978000	0.34361	0.878000	0.34440	0.972000	0.66771	1.454000	0.35178	1.431000	0.47355	0.655000	0.94253	CGC		0.632	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		T	36128233	C	T	36128233	3	4	183	1	0	0	0	0	1	0	0	0	13142	768	27	1	1343	1	RBM42	19	36128233	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	80309	36128233	23000750	710	11407											
CLIP3	25999	broad.mit.edu	37	19	36509856	36509856	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:36509856C>T	ENST00000360535.4	-	9	1354	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	CLIP3_ENST00000593074.1_Missense_Mutation_p.R376Q|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	376					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGGGGTCCGGGGTGTGGA	0.617																																																0													60	63	62					19																	36509856		2203	4300	6503	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1127G>A	19.37:g.36509856C>T	ENSP00000353732:p.Arg376Gln		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432605	0.62844	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.73681	-0.77	4.87	4.87	0.63330	Cytoskeleton-associated protein, Gly-rich domain (1);	0.054744	0.64402	D	0.000002	T	0.49270	0.1547	N	0.08118	0	0.47905	D	0.999541	P	0.43352	0.804	B	0.25614	0.062	T	0.59742	-0.7397	10	0.41790	T	0.15	-26.0622	15.5566	0.76200	0.0:1.0:0.0:0.0	.	376	Q96DZ5	CLIP3_HUMAN	Q	376;258;352	ENSP00000353732:R376Q	ENSP00000353732:R376Q	R	-	2	0	CLIP3	41201696	0.996000	0.38824	1.000000	0.80357	0.906000	0.53458	1.788000	0.38714	2.558000	0.86282	0.650000	0.86243	CGG		0.617	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		T	36509856	C	T	36509856	3	4	183	1	0	0	0	0	1	0	0	0	3536	652	23	1	540	1	CLIP3	19	36509856	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	381623	36509856	22619127	711	11408											
ZFP82	284406	broad.mit.edu	37	19	36883652	36883655	+	Frame_Shift_Del	DEL	TACA	TACA	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:36883652_36883655delTACA	ENST00000392161.3	-	5	1829_1832	c.1587_1590delTGTA	c.(1585-1590)aatgtafs	p.NV529fs	ZFP82_ENST00000392171.1_Frame_Shift_Del_p.NV529fs	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTAGATTTTTACATTATGAATTT	0.333																																																0																																										SO:0001589	frameshift_variant	284406			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1587_1590delTGTA	19.37:g.36883652_36883655delTACA	ENSP00000431265:p.Asn529fs		Q8NC63|Q8TF53	Frame_Shift_Del	DEL	ENST00000392161.3	37	CCDS12493.1																																																																																				0.333	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		-	36883655	TACA	-	36883652	7	5	183	1	0	1	0	1	0	0	0	0	17658	1741	61	0	12	0	ZFP82	19	36883652	Frame_Shift_Del	DEL	TACA	TCGA-B0-5098-01A-01D-1421-08	373796	36883652	22245331	712	11409											
CATSPERG	57828	broad.mit.edu	37	19	38853150	38853150	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:38853150T>C	ENST00000409235.3	+	19	2407	c.2292T>C	c.(2290-2292)acT>acC	p.T764T	CATSPERG_ENST00000215069.4_3'UTR|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000410018.1_Silent_p.T724T	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	764					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAAGGGCACTGAGTACAGCT	0.627																																																0													64	59	61					19																	38853150		2203	4300	6503	SO:0001819	synonymous_variant	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2292T>C	19.37:g.38853150T>C			A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	CCDS12514.2																																																																																				0.627	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		C	38853150	T	C	38853150	2	2	183	1	0	0	0	0	0	0	0	1	2694	1567	55	3		3	CATSPERG	19	38853150	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1969498	38853150	20275833	713	11410											
PLEKHG2	64857	broad.mit.edu	37	19	39914446	39914446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:39914446delC	ENST00000409794.3	+	19	3523	c.2673delC	c.(2671-2673)gtcfs	p.V891fs	PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Frame_Shift_Del_p.V832fs|PLEKHG2_ENST00000425673.1_Frame_Shift_Del_p.V862fs	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	891					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGAGTCTGTCCCCCTGGGTC	0.572																																																0													101	82	88					19																	39914446		2203	4300	6503	SO:0001589	frameshift_variant	64857			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2673delC	19.37:g.39914446delC	ENSP00000386733:p.Val891fs		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Frame_Shift_Del	DEL	ENST00000409794.3	37	CCDS33022.2																																																																																				0.572	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		-	39914446	C	-	39914446	7	5	183	1	0	1	0	1	0	0	0	0	12071	842	30	0	2743	0	PLEKHG2	19	39914446	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	1061296	39914446	19214537	714	11411											
SPTBN4	57731	broad.mit.edu	37	19	41029412	41029412	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:41029412C>T	ENST00000352632.3	+	17	3809	c.3723C>T	c.(3721-3723)caC>caT	p.H1241H	SPTBN4_ENST00000392025.1_5'Flank|SPTBN4_ENST00000338932.3_Silent_p.H1241H|SPTBN4_ENST00000344104.3_Silent_p.H1241H|SPTBN4_ENST00000598249.1_Silent_p.H1241H|SPTBN4_ENST00000595535.1_Silent_p.H1241H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1241					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAAACAGCACCGTGACTTTC	0.632																																																0													64	49	54					19																	41029412		2203	4300	6503	SO:0001819	synonymous_variant	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3723C>T	19.37:g.41029412C>T			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																				0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			T	41029412	C	T	41029412	2	4	183	1	0	0	0	0	0	0	0	1	15126	506	18	2		2	SPTBN4	19	41029412	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1114966	41029412	18099571	715	11412											
EGLN2	112398	broad.mit.edu	37	19	41307235	41307235	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:41307235T>G	ENST00000593726.1	+	1	1786	c.758T>G	c.(757-759)aTt>aGt	p.I253S	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Missense_Mutation_p.I253S|EGLN2_ENST00000594140.1_5'Flank|EGLN2_ENST00000406058.2_Missense_Mutation_p.I253S|CTC-490E21.12_ENST00000601627.1_Missense_Mutation_p.L12V			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	253					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	TGTCGAAGCATTGGTGCCCTC	0.657																																																0													43	39	40					19																	41307235		2203	4299	6502	SO:0001583	missense	112398			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.758T>G	19.37:g.41307235T>G	ENSP00000469686:p.Ile253Ser		A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806531	0.70682	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	D;D	0.86956	-2.19;-2.19	4.05	4.05	0.47172	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93278	0.7858	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94087	0.7349	10	0.87932	D	0	-10.5679	12.4226	0.55527	0.0:0.0:0.0:1.0	.	253	Q96KS0	EGLN2_HUMAN	S	253	ENSP00000307080:I253S;ENSP00000385253:I253S	ENSP00000307080:I253S	I	+	2	0	EGLN2	45999075	1.000000	0.71417	0.976000	0.42696	0.726000	0.41606	7.704000	0.84595	1.837000	0.53436	0.482000	0.46254	ATT		0.657	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			G	41307235	T	G	41307235	3	3	183	1	0	0	0	0	1	0	0	0	4971	1493	52	5	760	5	EGLN2	19	41307235	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	277823	41307235	17821748	716	11413											
ARHGEF1	9138	broad.mit.edu	37	19	42408499	42408499	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:42408499C>T	ENST00000354532.3	+	22	2273	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R691W|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R676W|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R765W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R724W	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	709	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCCGTGCTGCGGCTCACCTC	0.677																																																0													14	14	14					19																	42408499		2193	4279	6472	SO:0001583	missense	9138			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2125C>T	19.37:g.42408499C>T	ENSP00000346532:p.Arg709Trp		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623484	0.46840	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	3.84	3.84	0.44239	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.591199	0.15548	N	0.256577	T	0.27419	0.0673	N	0.19112	0.55	0.43750	D	0.996252	B;B;B;B	0.22983	0.039;0.078;0.03;0.018	B;B;B;B	0.12837	0.002;0.008;0.004;0.007	T	0.14364	-1.0475	10	0.87932	D	0	-11.0132	9.191	0.37200	0.2173:0.7827:0.0:0.0	.	691;724;676;709	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	W	709;676;724;691	ENSP00000346532:R709W;ENSP00000344429:R676W;ENSP00000337261:R724W;ENSP00000367394:R691W	ENSP00000337261:R724W	R	+	1	2	ARHGEF1	47100339	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.875000	0.48491	1.869000	0.54173	0.460000	0.39030	CGG		0.677	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		T	42408499	C	T	42408499	3	4	183	1	0	0	0	0	1	0	0	0	893	759	27	1	2256	1	ARHGEF1	19	42408499	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1101264	42408499	16720484	717	11414											
ZNF221	7638	broad.mit.edu	37	19	44471168	44471168	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:44471168C>A	ENST00000251269.5	+	6	1842	c.1514C>A	c.(1513-1515)cCt>cAt	p.P505H	ZNF221_ENST00000587682.1_Missense_Mutation_p.P505H|ZNF221_ENST00000592350.1_Missense_Mutation_p.P505H	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GGGGAAAAACCTTTCAAATGT	0.443																																																0													81	80	80					19																	44471168		2203	4300	6503	SO:0001583	missense	7638			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1514C>A	19.37:g.44471168C>A	ENSP00000251269:p.Pro505His		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.402057	0.83120	.	.	ENSG00000159905	ENST00000251269	T	0.29397	1.57	2.63	2.63	0.31362	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56529	0.1991	M	0.83692	2.655	0.31497	N	0.665268	D	0.89917	1.0	D	0.79784	0.993	T	0.64415	-0.6413	9	0.87932	D	0	.	12.3732	0.55265	0.0:1.0:0.0:0.0	.	505	Q9UK13	ZN221_HUMAN	H	505	ENSP00000251269:P505H	ENSP00000251269:P505H	P	+	2	0	ZNF221	49163008	0.148000	0.22702	0.035000	0.18076	0.794000	0.44872	1.560000	0.36331	1.460000	0.47911	0.313000	0.20887	CCT		0.443	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			A	44471168	C	A	44471168	3	1	183	1	0	0	0	0	1	0	0	0	17780	681	24	4	1528	4	ZNF221	19	44471168	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2062669	44471168	14657815	718	11415											
ZNF234	10780	broad.mit.edu	37	19	44661005	44661005	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:44661005A>G	ENST00000426739.2	+	6	1094	c.836A>G	c.(835-837)cAg>cGg	p.Q279R	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q279R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CAGGAACATCAGAGAATTCAT	0.413																																																0													128	136	133					19																	44661005		2195	4298	6493	SO:0001583	missense	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.836A>G	19.37:g.44661005A>G	ENSP00000400878:p.Gln279Arg		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629240	0.46944	.	.	ENSG00000167380	ENST00000426739	T	0.17691	2.26	3.98	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09818	0.0241	N	0.11201	0.11	0.21416	N	0.999691	P	0.40431	0.717	B	0.39904	0.313	T	0.19353	-1.0308	9	0.39692	T	0.17	.	8.9723	0.35915	0.9057:0.0:0.0943:0.0	.	279	Q14588	ZN234_HUMAN	R	279	ENSP00000400878:Q279R	ENSP00000400878:Q279R	Q	+	2	0	ZNF226	49352845	0.000000	0.05858	0.401000	0.26359	0.994000	0.84299	0.158000	0.16422	0.639000	0.30564	0.477000	0.44152	CAG		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			G	44661005	A	G	44661005	3	3	183	1	0	0	0	0	1	0	0	0	17792	188	7	3	850	3	ZNF234	19	44661005	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	189837	44661005	14467978	719	11416											
VASP	7408	broad.mit.edu	37	19	46021017	46021017	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:46021017C>T	ENST00000245932.6	+	2	458	c.102C>T	c.(100-102)agC>agT	p.S34S	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	34	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		AGGCCTTCAGCCGCGTCCAGA	0.642																																																0													70	54	59					19																	46021017		2203	4300	6503	SO:0001819	synonymous_variant	7408				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.102C>T	19.37:g.46021017C>T			B2RBT9|Q6PIZ1|Q93035	Silent	SNP	ENST00000245932.6	37	CCDS33051.1																																																																																				0.642	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			T	46021017	C	T	46021017	2	4	183	1	0	0	0	0	0	0	0	1	17133	738	26	2		2	VASP	19	46021017	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1360012	46021017	13107966	720	11417											
DMWD	1762	broad.mit.edu	37	19	46290079	46290079	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:46290079C>T	ENST00000270223.6	-	3	720	c.675G>A	c.(673-675)tcG>tcA	p.S225S	DMWD_ENST00000601370.1_5'Flank|DMWD_ENST00000377735.3_Silent_p.S225S|AC011530.4_ENST00000593999.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	225										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		ACAGGCTCTCCGACTCAGGCA	0.612																																																0													41	34	37					19																	46290079		2203	4300	6503	SO:0001819	synonymous_variant	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.675G>A	19.37:g.46290079C>T				Silent	SNP	ENST00000270223.6	37	CCDS33054.1																																																																																				0.612	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		T	46290079	C	T	46290079	2	4	183	1	0	0	0	0	0	0	0	1	4595	639	23	1		1	DMWD	19	46290079	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	269062	46290079	12838904	721	11418											
BBC3	27113	broad.mit.edu	37	19	47725155	47725155	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:47725155C>T	ENST00000439096.2	-	4	766	c.486G>A	c.(484-486)cgG>cgA	p.R162R	BBC3_ENST00000300880.7_Missense_Mutation_p.A37T|BBC3_ENST00000449228.1_Missense_Mutation_p.A197T|BBC3_ENST00000341983.4_Silent_p.R100R	NM_014417.4	NP_055232.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3	162					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|determination of adult lifespan (GO:0008340)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of growth (GO:0045926)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|release of cytochrome c from mitochondria (GO:0001836)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		AGGGGCGGTGCCGCTGCTGCT	0.612																																																0													47	47	47					19																	47725155		2202	4300	6502	SO:0001819	synonymous_variant	27113			AF332558	CCDS12697.1, CCDS46128.1, CCDS46129.1, CCDS46130.1	19q13.3-q13.4	2014-03-07							17868	protein-coding gene	gene with protein product		605854				11463392, 11572983	Standard	NM_001127240		Approved	JFY1, PUMA	uc002pgf.4	Q96PG8		ENST00000439096.2:c.486G>A	19.37:g.47725155C>T			B9EGI3|O00171|Q96PG9	Missense_Mutation	SNP	ENST00000439096.2	37	CCDS12697.1	.	.	.	.	.	.	.	.	.	.	c	9.371	1.070470	0.20147	.	.	ENSG00000105327	ENST00000449228;ENST00000300880	.	.	.	4.68	0.0197	0.14122	.	.	.	.	.	T	0.37517	0.1006	.	.	.	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08106	-1.0738	7	0.22109	T	0.4	.	7.5963	0.28050	0.0:0.4547:0.0:0.5453	.	197;37	E9PAW3;Q96PG8	.;.	T	197;37	.	ENSP00000300880:A37T	A	-	1	0	BBC3	52416995	0.996000	0.38824	0.999000	0.59377	0.866000	0.49608	-0.013000	0.12678	0.029000	0.15352	-1.004000	0.02495	GCA		0.612	BBC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466874.1	NM_014417		T	47725155	C	T	47725155	2	4	183	1	0	0	0	0	0	0	0	1	1333	739	26	2		2	BBC3	19	47725155	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1435076	47725155	11403828	722	11419											
KPTN	11133	broad.mit.edu	37	19	47980969	47980969	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:47980969A>C	ENST00000338134.3	-	9	964	c.857T>G	c.(856-858)gTg>gGg	p.V286G	KPTN_ENST00000536339.1_Missense_Mutation_p.V46G|KPTN_ENST00000595484.1_5'Flank	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	286					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCACCGATACACCACTGCTGG	0.517																																																0													96	106	103					19																	47980969		2158	4252	6410	SO:0001583	missense	11133			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"kaptin (actin-binding protein)"			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.857T>G	19.37:g.47980969A>C	ENSP00000337850:p.Val286Gly		B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	37	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007530	0.75046	.	.	ENSG00000118162	ENST00000338134;ENST00000536339	T;T	0.66638	-0.22;1.59	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.81361	0.4806	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.84414	0.0567	10	0.87932	D	0	-25.8122	12.7382	0.57236	1.0:0.0:0.0:0.0	.	286	Q9Y664	KPTN_HUMAN	G	286;46	ENSP00000337850:V286G;ENSP00000442579:V46G	ENSP00000337850:V286G	V	-	2	0	KPTN	52672781	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.103000	0.71492	1.967000	0.57214	0.459000	0.35465	GTG		0.517	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			C	47980969	A	C	47980969	3	2	183	1	0	0	0	0	1	0	0	0	8439	159	6	5	469	5	KPTN	19	47980969	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	255814	47980969	11148014	723	11420											
TULP2	7288	broad.mit.edu	37	19	49385360	49385360	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:49385360T>C	ENST00000221399.3	-	12	1520	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	459					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ATTGAGCGTGTAGACACCGTT	0.527																																																0													149	119	129					19																	49385360		2203	4300	6503	SO:0001583	missense	7288			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1376A>G	19.37:g.49385360T>C	ENSP00000221399:p.Tyr459Cys		Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726082	0.30593	.	.	ENSG00000104804	ENST00000221399;ENST00000522341	D;D	0.90676	-2.71;-2.71	4.62	2.46	0.29980	Tubby, C-terminal (4);	0.068671	0.64402	D	0.000011	D	0.94069	0.8099	M	0.79926	2.475	0.48395	D	0.999644	D	0.89917	1.0	D	0.83275	0.996	D	0.92464	0.5980	10	0.87932	D	0	-19.7118	8.0258	0.30436	0.4892:0.0:0.0:0.5108	.	459	O00295	TULP2_HUMAN	C	459;8	ENSP00000221399:Y459C;ENSP00000429131:Y8C	ENSP00000221399:Y459C	Y	-	2	0	TULP2	54077172	1.000000	0.71417	0.991000	0.47740	0.001000	0.01503	3.648000	0.54410	0.337000	0.23665	-0.309000	0.09137	TAC		0.527	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		C	49385360	T	C	49385360	3	2	183	1	0	0	0	0	1	0	0	0	16779	1638	57	3	194	3	TULP2	19	49385360	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1404391	49385360	9743623	724	11421											
GYS1	2997	broad.mit.edu	37	19	49490600	49490600	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:49490600C>T	ENST00000323798.3	-	3	539	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	GYS1_ENST00000541188.1_Missense_Mutation_p.V35M|GYS1_ENST00000540532.1_Missense_Mutation_p.V35M|GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	115					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCCAGGAGCACCACCAGAGGG	0.642																																																0													44	34	38					19																	49490600		2202	4299	6501	SO:0001583	missense	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.343G>A	19.37:g.49490600C>T	ENSP00000317904:p.Val115Met		Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518323	0.64634	.	.	ENSG00000104812	ENST00000323798;ENST00000541188;ENST00000540532;ENST00000457974	T;T;T	0.69040	-0.37;-0.37;-0.37	3.82	2.79	0.32731	.	0.213800	0.39475	N	0.001344	T	0.71929	0.3398	L	0.60957	1.885	0.42936	D	0.99433	D;P	0.53745	0.962;0.934	D;P	0.65233	0.933;0.769	T	0.73222	-0.4051	10	0.87932	D	0	-20.0673	5.0348	0.14428	0.0:0.759:0.0:0.241	.	35;115	B7Z806;P13807	.;GYS1_HUMAN	M	115;35;35;114	ENSP00000317904:V115M;ENSP00000437922:V35M;ENSP00000445197:V35M	ENSP00000317904:V115M	V	-	1	0	GYS1	54182412	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.090000	0.30902	2.088000	0.63022	0.557000	0.71058	GTG		0.642	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		T	49490600	C	T	49490600	3	4	183	1	0	0	0	0	1	0	0	0	6914	507	18	2	1926	2	GYS1	19	49490600	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	105240	49490600	9638383	725	11422	87	2									
GYS1	2997	broad.mit.edu	37	19	49490607	49490607	+	Silent	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:49490607A>T	ENST00000323798.3	-	3	532	c.336T>A	c.(334-336)ccT>ccA	p.P112P	GYS1_ENST00000541188.1_Silent_p.P32P|GYS1_ENST00000540532.1_Silent_p.P32P|GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	112					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GCACCACCAGAGGGCCTCCCT	0.627																																																0													39	32	34					19																	49490607		2202	4298	6500	SO:0001819	synonymous_variant	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.336T>A	19.37:g.49490607A>T			Q9BTT9	Silent	SNP	ENST00000323798.3	37	CCDS12747.1																																																																																				0.627	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		T	49490607	A	T	49490607	2	4	183	1	0	0	0	0	0	0	0	1	6914	291	11	5		5	GYS1	19	49490607	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	7	49490607	9638376	726	11423	87	2									
PPFIA3	8541	broad.mit.edu	37	19	49641637	49641637	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:49641637delC	ENST00000334186.4	+	16	2378	c.2029delC	c.(2029-2031)cccfs	p.P677fs	PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.P677fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	677					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCACTCAACACCCCGCCTGGC	0.682																																																0													30	33	32					19																	49641637		2203	4298	6501	SO:0001589	frameshift_variant	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2029delC	19.37:g.49641637delC	ENSP00000335614:p.Pro677fs		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Frame_Shift_Del	DEL	ENST00000334186.4	37	CCDS12758.1																																																																																				0.682	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		-	49641637	C	-	49641637	7	5	183	1	0	1	0	1	0	0	0	0	12313	507	18	0	2087	0	PPFIA3	19	49641637	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	151030	49641637	9487346	727	11424											
TBC1D17	79735	broad.mit.edu	37	19	50381462	50381465	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:50381462_50381465delCTCT	ENST00000221543.5	+	2	383_386	c.84_87delCTCT	c.(82-87)gactctfs	p.DS28fs	AKT1S1_ENST00000391831.1_5'Flank|AKT1S1_ENST00000344175.5_5'Flank|TBC1D17_ENST00000598789.1_3'UTR|AKT1S1_ENST00000391832.3_5'Flank|AKT1S1_ENST00000391833.1_5'Flank|AKT1S1_ENST00000482622.1_5'UTR|TBC1D17_ENST00000535102.2_Intron|AKT1S1_ENST00000391834.2_5'Flank|AKT1S1_ENST00000391835.1_5'Flank	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	28					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGGACCGAGACTCTCTCATCGCTG	0.642																																																0																																										SO:0001589	frameshift_variant	79735			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.84_87delCTCT	19.37:g.50381462_50381465delCTCT	ENSP00000221543:p.Asp28fs		B4DT12|B9A6L8|F5H1W7	Frame_Shift_Del	DEL	ENST00000221543.5	37	CCDS12785.1																																																																																				0.642	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		-	50381465	CTCT	-	50381462	7	5	183	1	0	1	0	1	0	0	0	0	15611	564	20	0	90	0	TBC1D17	19	50381462	Frame_Shift_Del	DEL	CTCT	TCGA-B0-5098-01A-01D-1421-08	739825	50381462	8747521	728	11425											
TBC1D17	79735	broad.mit.edu	37	19	50391043	50391043	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:50391043G>A	ENST00000221543.5	+	15	1910	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	MIR4750_ENST00000584564.1_RNA|TBC1D17_ENST00000535102.2_Silent_p.E504E	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	537					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGGACATGGAGAGGGACACCC	0.697																																																0													35	29	31					19																	50391043		2203	4300	6503	SO:0001819	synonymous_variant	79735			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1611G>A	19.37:g.50391043G>A			B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	CCDS12785.1																																																																																				0.697	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		A	50391043	G	A	50391043	2	1	183	1	0	0	0	0	0	0	0	1	15611	933	33	2		2	TBC1D17	19	50391043	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	9581	50391043	8737940	729	11426											
SIGLEC11	114132	broad.mit.edu	37	19	50461598	50461598	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:50461598G>A	ENST00000447370.2	-	8	1683	c.1593C>T	c.(1591-1593)cgC>cgT	p.R531R	CTC-326K19.6_ENST00000451973.1_Silent_p.R17R|SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	531					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGGCCTTACAGCGGAGCCTGA	0.667																																																0													35	41	39					19																	50461598		2203	4300	6503	SO:0001819	synonymous_variant	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1593C>T	19.37:g.50461598G>A				Silent	SNP	ENST00000447370.2	37	CCDS12790.2																																																																																				0.667	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		A	50461598	G	A	50461598	2	1	183	1	0	0	0	0	0	0	0	1	14313	958	34	2		2	SIGLEC11	19	50461598	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	70555	50461598	8667385	730	11427											
MYH14	79784	broad.mit.edu	37	19	50774688	50774688	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:50774688C>T	ENST00000596571.1	+	22	2933	c.2933C>T	c.(2932-2934)gCt>gTt	p.A978V	MYH14_ENST00000425460.1_Missense_Mutation_p.A986V|MYH14_ENST00000601313.1_Missense_Mutation_p.A1019V|MYH14_ENST00000440075.2_Missense_Mutation_p.A1019V|MYH14_ENST00000376970.2_Missense_Mutation_p.A1011V|MYH14_ENST00000262269.8_Missense_Mutation_p.A1019V|MYH14_ENST00000598205.1_Missense_Mutation_p.A986V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	978					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CACCTTGAGGCTGAGGAGGGT	0.572																																																0													24	27	26					19																	50774688		2182	4293	6475	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2933C>T	19.37:g.50774688C>T	ENSP00000472819:p.Ala978Val		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528412	0.27299	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	3.52	3.52	0.40303	.	.	.	.	.	T	0.68403	0.2997	N	0.14661	0.345	0.35356	D	0.787835	B;B;B	0.25312	0.123;0.028;0.047	B;B;B	0.22880	0.042;0.011;0.024	T	0.73193	-0.4060	9	0.87932	D	0	.	8.4039	0.32603	0.2336:0.7664:0.0:0.0	.	1019;978;986	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	V	978;1019;1011;986;978;1019	ENSP00000406273:A1019V;ENSP00000366169:A1011V;ENSP00000407879:A986V;ENSP00000262269:A1019V	ENSP00000262269:A1019V	A	+	2	0	MYH14	55466500	1.000000	0.71417	0.839000	0.33178	0.177000	0.22998	5.215000	0.65241	1.988000	0.58038	0.561000	0.74099	GCT		0.572	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		T	50774688	C	T	50774688	3	4	183	1	0	0	0	0	1	0	0	0	10035	797	28	2	3150	2	MYH14	19	50774688	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	313090	50774688	8354295	731	11428											
CNOT3	4849	broad.mit.edu	37	19	54651965	54651966	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:54651965_54651966insC	ENST00000406403.1	+	10	2580_2581	c.977_978insC	c.(976-981)ggccccfs	p.GP326fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.GP326fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.GP145fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	326	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TACCCCTCCGGCCCCCCGCCTG	0.693																																																0																																										SO:0001589	frameshift_variant	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.983dupC	19.37:g.54651971_54651971dupC	ENSP00000383954:p.Gly326fs		Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	ENST00000406403.1	37	CCDS12880.1																																																																																				0.693	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		C	54651966	-	C	54651965	7	5	183	1	0	1	1	0	0	0	0	0	3622	1203	42	0	1015	0	CNOT3	19	54651965	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	3877277	54651965	4477018	732	11429											
LENG8	114823	broad.mit.edu	37	19	54967841	54967841	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:54967841G>A	ENST00000326764.5	+	11	1951	c.1472G>A	c.(1471-1473)aGt>aAt	p.S491N	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	454										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACCAAGCGCAGTCGAAAGAAG	0.672																																																0													16	21	20					19																	54967841		2199	4292	6491	SO:0001583	missense	114823			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1472G>A	19.37:g.54967841G>A	ENSP00000318374:p.Ser491Asn		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	8.033	0.762191	0.15914	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.30448	1.56;1.53;1.53	4.17	1.89	0.25635	.	0.236043	0.44097	N	0.000493	T	0.11665	0.0284	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.002;0.002	T	0.10405	-1.0631	10	0.14252	T	0.57	-21.5304	5.0507	0.14507	0.3937:0.0:0.6063:0.0	.	491;454	Q96PV6-2;F8W9Q9	.;.	N	491;454;454;491	ENSP00000318374:S491N;ENSP00000365709:S454N;ENSP00000388053:S491N	ENSP00000301196:S454N	S	+	2	0	LENG8	59659653	1.000000	0.71417	0.998000	0.56505	0.369000	0.29798	2.171000	0.42453	0.933000	0.37291	0.462000	0.41574	AGT		0.672	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		A	54967841	G	A	54967841	3	1	183	1	0	0	0	0	1	0	0	0	8726	1029	36	2	1510	2	LENG8	19	54967841	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	315876	54967841	4161142	733	11430											
ZIK1	284307	broad.mit.edu	37	19	58096319	58096319	+	Splice_Site	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:58096319G>A	ENST00000597850.1	+	2	248		c.e2-1		ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000536878.2_Intron|ZIK1_ENST00000599456.1_Intron|ZIK1_ENST00000598726.1_Intron	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTTTCCACAGGTTACTGTGT	0.552																																																0													115	99	105					19																	58096319		2203	4300	6503	SO:0001630	splice_region_variant	284307			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"Zinc fingers, C2H2-type", "-"	33104	protein-coding gene	gene with protein product			"zinc finger protein interacting with K protein 1 homolog (mouse)"				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.34-1G>A	19.37:g.58096319G>A			O43339|Q3SY51|Q3SY53	Splice_Site	SNP	ENST00000597850.1	37	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	4.017	0.000562	0.07819	.	.	ENSG00000171649	ENST00000307468	.	.	.	2.75	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.23798	N	0.996819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6394	0.22901	0.0:0.0:0.6888:0.3112	.	.	.	.	.	-1	.	.	.	+	.	.	ZIK1	62788131	0.005000	0.15991	0.004000	0.12327	0.008000	0.06430	0.734000	0.26101	0.675000	0.31264	0.491000	0.48974	.		0.552	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879	Intron	A	58096319	G	A	58096319	5	1	183	1	0	0	0	0	0	0	1	0	17688	1014	35	2	39	2	ZIK1	19	58096319	Splice_Site	SNP	G	TCGA-B0-5098-01A-01D-1421-08	3128478	58096319	1032664	734	11431											
ZNF586	54807	broad.mit.edu	37	19	58290702	58290702	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:58290702T>C	ENST00000396154.2	+	3	920	c.747T>C	c.(745-747)ctT>ctC	p.L249L	ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000391702.3_Silent_p.L206L|ZNF586_ENST00000396150.4_Missense_Mutation_p.L207S	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCCAGTCTTATTAAACACT	0.438																																																0													83	90	88					19																	58290702		2196	4298	6494	SO:0001819	synonymous_variant	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.747T>C	19.37:g.58290702T>C			A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	T	9.271	1.045741	0.19748	.	.	ENSG00000083828	ENST00000396150	T	0.36157	1.27	1.65	-1.76	0.08006	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.22880	N	0.998614	P	0.42375	0.778	P	0.45167	0.472	T	0.10965	-1.0607	8	0.02654	T	1	.	3.6858	0.08327	0.0:0.3098:0.194:0.4962	.	207	A0JLV8	.	S	207	ENSP00000379454:L207S	ENSP00000379454:L207S	L	+	2	0	ZNF586	62982514	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.112000	0.00150	-0.699000	0.05077	-0.408000	0.06270	TTA		0.438	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		C	58290702	T	C	58290702	2	2	183	1	0	0	0	0	0	0	0	1	18024	1741	61	3		3	ZNF586	19	58290702	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	194383	58290702	838281	735	11432											
ZNF544	27300	broad.mit.edu	37	19	58772838	58772838	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr19:58772838A>G	ENST00000596652.1	+	6	1100	c.866A>G	c.(865-867)aAg>aGg	p.K289R	ZNF544_ENST00000269829.4_Missense_Mutation_p.K289R|ZNF544_ENST00000415203.2_Missense_Mutation_p.K261R|ZNF544_ENST00000600044.1_Missense_Mutation_p.K261R|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.K261R|ZNF544_ENST00000599953.1_Missense_Mutation_p.K147R|CTD-3138B18.4_ENST00000600029.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AATGAACAGAAGCCAGTGCAT	0.428																																																0													73	72	73					19																	58772838		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.866A>G	19.37:g.58772838A>G	ENSP00000469635:p.Lys289Arg		A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.991417	0.35131	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.15017	2.46;2.46	3.52	-0.305	0.12784	.	.	.	.	.	T	0.06872	0.0175	N	0.11064	0.09	0.09310	N	1	P;B;B	0.39480	0.675;0.006;0.019	B;B;B	0.34652	0.187;0.003;0.007	T	0.29181	-1.0020	9	0.33940	T	0.23	.	4.5492	0.12103	0.5125:0.1649:0.0:0.3226	.	261;261;289	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	R	289;261	ENSP00000269829:K289R;ENSP00000394341:K261R	ENSP00000269829:K289R	K	+	2	0	ZNF544	63464650	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.844000	0.27654	0.067000	0.16545	0.533000	0.62120	AAG		0.428	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		G	58772838	A	G	58772838	3	3	183	1	0	0	0	0	1	0	0	0	17982	72	3	3	880	3	ZNF544	19	58772838	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	482136	58772838	356145	736	11433											
PTPRA	5786	broad.mit.edu	37	20	3002826	3002826	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:3002826T>C	ENST00000216877.6	+	14	1661	c.1261T>C	c.(1261-1263)Tgt>Cgt	p.C421R	PTPRA_ENST00000318266.5_Missense_Mutation_p.C421R|PTPRA_ENST00000358719.4_Missense_Mutation_p.C286R|PTPRA_ENST00000380393.3_Missense_Mutation_p.C430R|PTPRA_ENST00000425918.2_Missense_Mutation_p.C441R|PTPRA_ENST00000356147.3_Missense_Mutation_p.C421R|PTPRA_ENST00000399903.2_Missense_Mutation_p.C430R	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	430	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGTGAAGGCCTGTAACCCTCA	0.587																																																0													158	136	144					20																	3002826		2203	4300	6503	SO:0001583	missense	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1261T>C	20.37:g.3002826T>C	ENSP00000216877:p.Cys421Arg		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812980	0.90707	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84;2.84	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.053490	0.85682	U	0.000000	T	0.17874	0.0429	N	0.13043	0.29	0.80722	D	1	P;D;P	0.64830	0.826;0.994;0.582	P;D;B	0.64687	0.525;0.928;0.174	T	0.07770	-1.0755	10	0.59425	D	0.04	.	16.2025	0.82095	0.0:0.0:0.0:1.0	.	441;430;421	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	R	430;421;430;286;40;441;421;421	ENSP00000369756:C430R;ENSP00000216877:C421R;ENSP00000382787:C430R;ENSP00000351559:C286R;ENSP00000393553:C441R;ENSP00000314568:C421R;ENSP00000348468:C421R	ENSP00000216877:C421R	C	+	1	0	PTPRA	2950826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.187000	0.72039	2.231000	0.72958	0.459000	0.35465	TGT		0.587	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			C	3002826	T	C	3002826	3	2	183	1	0	0	0	0	1	0	0	0	12801	1580	55	3	1334	3	PTPRA	20	3002826	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08		3002826	60022694	737	11434											
C20orf194	25943	broad.mit.edu	37	20	3240664	3240664	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:3240664T>C	ENST00000252032.9	-	32	2951	c.2884A>G	c.(2884-2886)Aaa>Gaa	p.K962E	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	962										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GCATTCAATTTACCTTCATAC	0.493																																																0													62	58	59					20																	3240664		1862	4093	5955	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2884A>G	20.37:g.3240664T>C	ENSP00000252032:p.Lys962Glu		Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554778	0.65425	.	.	ENSG00000088854	ENST00000252032	T	0.18016	2.24	5.16	5.16	0.70880	.	0.268825	0.37219	N	0.002181	T	0.18923	0.0454	L	0.44542	1.39	0.80722	D	1	B;P	0.46512	0.356;0.879	B;P	0.45639	0.164;0.488	T	0.01330	-1.1383	10	0.38643	T	0.18	.	11.0717	0.48008	0.0:0.0:0.1551:0.8449	.	701;962	Q0IIP3;Q5TEA3	.;CT194_HUMAN	E	962	ENSP00000252032:K962E	ENSP00000252032:K962E	K	-	1	0	C20orf194	3188664	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.948000	0.49066	1.940000	0.56252	0.448000	0.29417	AAA		0.493	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		C	3240664	T	C	3240664	3	2	183	1	0	0	0	0	1	0	0	0	2101	1763	61	3	673	3	C20orf194	20	3240664	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	237838	3240664	59784856	738	11435											
SMOX	54498	broad.mit.edu	37	20	4163091	4163091	+	Missense_Mutation	SNP	T	T	C	rs199631589		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:4163091T>C	ENST00000305958.4	+	5	1190	c.965T>C	c.(964-966)cTg>cCg	p.L322P	SMOX_ENST00000278795.3_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.L322P|SMOX_ENST00000339123.6_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	322					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GACTGTGAGCTGATCCCGGCG	0.637																																																0													90	79	83					20																	4163091		2203	4300	6503	SO:0001583	missense	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.965T>C	20.37:g.4163091T>C	ENSP00000307252:p.Leu322Pro		A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839231	0.32513	.	.	ENSG00000088826	ENST00000305958;ENST00000379460;ENST00000457205	D;D;D	0.92699	-3.09;-3.09;-3.09	5.79	5.79	0.91817	Amine oxidase (1);	0.463679	0.25324	N	0.031481	D	0.83036	0.5167	N	0.13168	0.305	0.36759	D	0.883172	P;B	0.38440	0.631;0.039	B;B	0.32393	0.145;0.01	D	0.85000	0.0899	9	.	.	.	-4.9571	14.118	0.65167	0.0:0.0:0.0:1.0	.	322;322	Q9NWM0-6;Q9NWM0	.;SMOX_HUMAN	P	322;322;179	ENSP00000307252:L322P;ENSP00000368773:L322P;ENSP00000407269:L179P	.	L	+	2	0	SMOX	4111091	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.342000	0.65970	2.221000	0.72209	0.456000	0.33151	CTG		0.637	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		C	4163091	T	C	4163091	3	2	183	1	0	0	0	0	1	0	0	0	14809	1580	55	3	979	3	SMOX	20	4163091	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	922427	4163091	58862429	739	11436											
LRRN4	164312	broad.mit.edu	37	20	6025250	6025250	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:6025250delG	ENST00000378858.4	-	4	1161	c.937delC	c.(937-939)ctcfs	p.L313fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	313					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTGCAAGTGAGGGGGTTGCCA	0.478																																																0													61	57	58					20																	6025250		2203	4300	6503	SO:0001589	frameshift_variant	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.937delC	20.37:g.6025250delG	ENSP00000368135:p.Leu313fs		A8K258|Q5JWV6|Q9H419	Frame_Shift_Del	DEL	ENST00000378858.4	37	CCDS13097.1																																																																																				0.478	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		-	6025250	G	-	6025250	7	5	183	1	0	1	0	1	0	0	0	0	9039	1000	35	0	1293	0	LRRN4	20	6025250	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	1862159	6025250	57000270	740	11437											
C20orf7	79133	broad.mit.edu	37	20	13797837	13797837	+	Missense_Mutation	SNP	C	C	T	rs150559783	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:13797837C>T	ENST00000378106.5	+	11	1138	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.P312L	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	340					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										CTTATGCCACCGGGGAAAAAA	0.318																																																0								C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	84	97	93		935,1019	3.3	0.1	20	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	C20orf7	NM_001039375.2,NM_024120.4	98,98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	312/318,340/346	13797837	2,13004	2203	4300	6503	SO:0001583	missense	79133				CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"Mitochondrial respiratory chain complex assembly factors"	15899	protein-coding gene	gene with protein product		612360	"chromosome 20 open reading frame 7"	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.1019C>T	20.37:g.13797837C>T	ENSP00000367346:p.Pro340Leu		A8K166|Q6GPH3|Q9H6F4	Missense_Mutation	SNP	ENST00000378106.5	37	CCDS13118.1	.	.	.	.	.	.	.	.	.	.	C	2.580	-0.297730	0.05532	0.0	2.33E-4	ENSG00000101247	ENST00000378106;ENST00000463598	T;T	0.79940	-1.32;-1.0	5.54	3.3	0.37823	.	0.733633	0.13805	N	0.361529	T	0.66147	0.2760	N	0.24115	0.695	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.003	T	0.51764	-0.8664	10	0.30078	T	0.28	-27.3466	6.9315	0.24444	0.6403:0.2847:0.075:0.0	.	312;340	Q5TEU4-2;Q5TEU4	.;CT007_HUMAN	L	340;312	ENSP00000367346:P340L;ENSP00000420497:P312L	ENSP00000367346:P340L	P	+	2	0	C20orf7	13745837	0.011000	0.17503	0.120000	0.21714	0.001000	0.01503	2.249000	0.43169	0.398000	0.25338	-0.998000	0.02512	CCG		0.318	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2	NM_001039375		T	13797837	C	T	13797837	3	4	183	1	0	0	0	0	1	0	0	0	2117	652	23	1	1081	1	C20orf7	20	13797837	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	7772587	13797837	49227683	741	11438											
MYH7B	57644	broad.mit.edu	37	20	33565798	33565798	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:33565798G>A	ENST00000262873.7	+	3	208	c.116G>A	c.(115-117)aGt>aAt	p.S39N		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	0						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S39N(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTTCACCCCAGTGCCACTGCC	0.602																																																1	Substitution - Missense(1)	large_intestine(1)											108	117	114					20																	33565798		2163	4271	6434	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.116G>A	20.37:g.33565798G>A	ENSP00000262873:p.Ser39Asn		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582831	0.46006	.	.	ENSG00000078814	ENST00000262873	D	0.86230	-2.09	3.97	-2.87	0.05700	.	.	.	.	.	T	0.78886	0.4354	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.67039	-0.5771	6	0.33940	T	0.23	.	4.5737	0.12223	0.0803:0.3404:0.3699:0.2094	.	.	.	.	N	39	ENSP00000262873:S39N	ENSP00000262873:S39N	S	+	2	0	MYH7B	33029459	0.000000	0.05858	0.036000	0.18154	0.519000	0.34347	0.216000	0.17585	-0.285000	0.09089	-0.165000	0.13383	AGT		0.602	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		A	33565798	G	A	33565798	3	1	183	1	0	0	0	0	1	0	0	0	10042	1029	36	2	126	2	MYH7B	20	33565798	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	19767961	33565798	29459722	742	11439											
TRPC4AP	26133	broad.mit.edu	37	20	33603887	33603887	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:33603887T>A	ENST00000252015.2	-	10	1363	c.1274A>T	c.(1273-1275)gAc>gTc	p.D425V	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.D417V|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.D386V|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.D27V			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	425					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AATCAGTTTGTCAAACAAATT	0.458																																																0													119	107	111					20																	33603887		2203	4300	6503	SO:0001583	missense	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1274A>T	20.37:g.33603887T>A	ENSP00000252015:p.Asp425Val		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.790644	0.90367	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	M	0.65498	2.005	0.80722	D	1	D;D;D	0.62365	0.977;0.991;0.991	P;P;P	0.59825	0.812;0.864;0.864	T	0.78051	-0.2355	9	0.87932	D	0	.	14.6634	0.68891	0.0:0.0:0.0:1.0	.	386;417;425	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	V	425;417;27;386;410	.	ENSP00000252015:D425V	D	-	2	0	TRPC4AP	33067548	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.036000	0.88901	1.864000	0.54056	0.533000	0.62120	GAC		0.458	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		A	33603887	T	A	33603887	3	1	183	1	0	0	0	0	1	0	0	0	16586	1667	58	5	1159	5	TRPC4AP	20	33603887	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	38089	33603887	29421633	743	11440											
FAM83C	128876	broad.mit.edu	37	20	33875605	33875605	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:33875605G>A	ENST00000374408.3	-	4	1073	c.977C>T	c.(976-978)cCt>cTt	p.P326L	EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	326										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TAGGGCCACAGGGGGAGGACG	0.657																																																0													83	70	75					20																	33875605		2200	4297	6497	SO:0001583	missense	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.977C>T	20.37:g.33875605G>A	ENSP00000363529:p.Pro326Leu		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	3.975	-0.007618	0.07773	.	.	ENSG00000125998	ENST00000374408	T	0.08807	3.05	5.05	3.04	0.35103	.	1.017300	0.07891	N	0.971184	T	0.11922	0.0290	M	0.70595	2.14	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30937	-0.9961	10	0.49607	T	0.09	-1.5115	5.9766	0.19382	0.1658:0.0:0.6813:0.1529	.	326	Q9BQN1	FA83C_HUMAN	L	326	ENSP00000363529:P326L	ENSP00000363529:P326L	P	-	2	0	FAM83C	33339019	0.001000	0.12720	0.006000	0.13384	0.053000	0.15095	0.804000	0.27098	0.612000	0.30071	0.561000	0.74099	CCT		0.657	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			A	33875605	G	A	33875605	3	1	183	1	0	0	0	0	1	0	0	0	5637	1000	35	2	1270	2	FAM83C	20	33875605	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	271718	33875605	29149915	744	11441											
UQCC	55245	broad.mit.edu	37	20	33961989	33961989	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:33961989A>T	ENST00000374385.5	-	5	581	c.404T>A	c.(403-405)cTa>cAa	p.L135Q	UQCC1_ENST00000349714.5_Intron|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000374384.2_Missense_Mutation_p.L135Q|UQCC1_ENST00000374380.2_Missense_Mutation_p.L67Q|UQCC1_ENST00000359226.2_Intron|UQCC1_ENST00000542501.1_Intron|UQCC1_ENST00000397554.1_Missense_Mutation_p.L135Q|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000397556.3_Missense_Mutation_p.L36Q|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000407996.2_Intron	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	135				LR -> MG (in Ref. 2; BAB14217). {ECO:0000305}.		cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											TAACTTACTTAGAAAGAATTC	0.343																																																0													72	71	71					20																	33961989		2203	4300	6503	SO:0001583	missense	55245			AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"Mitochondrial respiratory chain complex assembly factors"	15891	protein-coding gene	gene with protein product	"Basic FGF-repressed Zic-binding protein", "cytochrome B protein synthesis 3 homolog (S. cerevisiae)"	611797	"chromosome 20 open reading frame 44", "ubiquinol-cytochrome c reductase complex chaperone"	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.404T>A	20.37:g.33961989A>T	ENSP00000363506:p.Leu135Gln		B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	CCDS13252.1	.	.	.	.	.	.	.	.	.	.	A	7.936	0.741649	0.15642	.	.	ENSG00000101019	ENST00000374384;ENST00000374380;ENST00000374385;ENST00000397556;ENST00000424405;ENST00000438533;ENST00000397554	T;T;T;T;T	0.40476	1.58;1.58;1.03;1.59;1.56	4.61	2.26	0.28386	.	0.467396	0.19948	N	0.102499	T	0.22704	0.0548	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.19445	0.001;0.036;0.003;0.036;0.001	B;B;B;B;B	0.19666	0.004;0.026;0.008;0.018;0.007	T	0.05289	-1.0894	10	0.13108	T	0.6	-16.0003	5.3059	0.15803	0.4762:0.1405:0.0:0.3833	.	67;127;135;135;135	B1AKV5;Q59FR0;B7ZBG3;B1AKV2;Q9NVA1	.;.;.;.;UQCC_HUMAN	Q	135;67;135;36;103;149;135	ENSP00000363505:L135Q;ENSP00000363506:L135Q;ENSP00000399713:L103Q;ENSP00000398531:L149Q;ENSP00000380686:L135Q	ENSP00000363501:L67Q	L	-	2	0	UQCC	33425403	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.334000	0.43920	0.331000	0.23511	0.455000	0.32223	CTA		0.343	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		T	33961989	A	T	33961989	3	4	183	1	0	0	0	0	1	0	0	0	17020	420	15	5	519	5	UQCC	20	33961989	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	86384	33961989	29063531	745	11442											
CPNE1	8904	broad.mit.edu	37	20	34219276	34219277	+	Splice_Site	DEL	CC	CC	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:34219276_34219277delCC	ENST00000317619.3	-	11	1109	c.715delGG	c.(715-717)ggc>gc	p.G239fs	CPNE1_ENST00000397446.1_Splice_Site_p.G239fs|CPNE1_ENST00000397443.1_Splice_Site_p.G239fs|CPNE1_ENST00000397442.1_Splice_Site_p.G239fs|CPNE1_ENST00000352393.4_Splice_Site_p.G239fs|CPNE1_ENST00000397445.1_Splice_Site_p.G239fs|CPNE1_ENST00000317677.5_Splice_Site_p.G244fs			Q99829	CPNE1_HUMAN	copine I	239					lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCAAACTCAGCCTGGTGAGGAC	0.47																																																0																																										SO:0001630	splice_region_variant	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.715-1GG>-	20.37:g.34219276_34219277delCC			E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Splice_Site	DEL	ENST00000317619.3	37	CCDS13260.1																																																																																				0.47	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930	Frame_Shift_Del	-	34219277	CC	-	34219276	8	5	183	1	0	1	0	1	0	0	1	0	3813	753	26	0	930	0	CPNE1	20	34219276	Splice_Site	DEL	CC	TCGA-B0-5098-01A-01D-1421-08	257287	34219276	28806244	746	11443											
NFS1	9054	broad.mit.edu	37	20	34262295	34262295	+	Silent	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:34262295C>T	ENST00000374092.4	-	10	1183	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	NFS1_ENST00000540053.1_Silent_p.K169K|NFS1_ENST00000397425.1_Silent_p.K311K|NFS1_ENST00000541387.1_Silent_p.K320K|NFS1_ENST00000374085.1_Silent_p.K311K|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.R31K|NFS1_ENST00000498084.1_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	371					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	AGGCAACGTCCTTCAGTGCCA	0.517																																																0													122	111	115					20																	34262295		2203	4300	6503	SO:0001819	synonymous_variant	9054			AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"nitrogen fixation 1 (S. cerevisiae, homolog)", "NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1113G>A	20.37:g.34262295C>T			B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Silent	SNP	ENST00000374092.4	37	CCDS13262.1																																																																																				0.517	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		T	34262295	C	T	34262295	2	4	183	1	0	0	0	0	0	0	0	1	10387	680	24	2		2	NFS1	20	34262295	Silent	SNP	C	TCGA-B0-5098-01A-01D-1421-08	43019	34262295	28763225	747	11444											
VSTM2L	128434	broad.mit.edu	37	20	36572445	36572445	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:36572445G>A	ENST00000373461.4	+	4	652	c.405G>A	c.(403-405)acG>acA	p.T135T	VSTM2L_ENST00000373459.4_Missense_Mutation_p.G62R|VSTM2L_ENST00000373458.3_Silent_p.T118T	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	135	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				TGAAGCCCACGGACGAAGGCA	0.642																																																0													56	39	45					20																	36572445		2203	4300	6503	SO:0001819	synonymous_variant	128434			AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"Immunoglobulin superfamily / V-set domain containing"	16096	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 102"	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.405G>A	20.37:g.36572445G>A			E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	ENST00000373461.4	37	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228084	0.39399	.	.	ENSG00000132821	ENST00000373459	.	.	.	5.44	-3.05	0.05396	.	.	.	.	.	T	0.65668	0.2713	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67146	-0.5744	5	0.45353	T	0.12	-26.7824	12.168	0.54141	0.4793:0.0:0.5207:0.0	.	.	.	.	R	62	.	ENSP00000362558:G62R	G	+	1	0	VSTM2L	36005859	0.032000	0.19561	0.991000	0.47740	0.981000	0.71138	-0.775000	0.04679	-0.367000	0.08052	-0.448000	0.05591	GGA		0.642	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079133.1			A	36572445	G	A	36572445	2	1	183	1	0	0	0	0	0	0	0	1	17235	1103	39	1		1	VSTM2L	20	36572445	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2310150	36572445	26453075	748	11445											
KIAA0406	9675	broad.mit.edu	37	20	36627613	36627613	+	Frame_Shift_Del	DEL	G	G	-	rs149568606		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:36627613delG	ENST00000373448.2	-	6	3008	c.2770delC	c.(2770-2772)ctgfs	p.L924fs	TTI1_ENST00000373447.3_Frame_Shift_Del_p.L924fs|TTI1_ENST00000449821.1_Frame_Shift_Del_p.L924fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	924					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L924fs*37(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGCACTGCCAGGGGGGCGTCC	0.577																																																1	Deletion - Frameshift(1)	large_intestine(1)											76	73	74					20																	36627613		2203	4300	6503	SO:0001589	frameshift_variant	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2770delC	20.37:g.36627613delG	ENSP00000362547:p.Leu924fs		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Frame_Shift_Del	DEL	ENST00000373448.2	37	CCDS13300.1																																																																																				0.577	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		-	36627613	G	-	36627613	7	5	183	1	0	1	0	1	0	0	0	0	8175	991	35	0	515	0	KIAA0406	20	36627613	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	55168	36627613	26397907	749	11446											
KIAA1755	85449	broad.mit.edu	37	20	36869844	36869844	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:36869844G>A	ENST00000279024.4	-	3	960	c.689C>T	c.(688-690)gCc>gTc	p.A230V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	230										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAAACTCTGGGCAGGAAGCAC	0.592																																																0													104	96	99					20																	36869844		2203	4300	6503	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.689C>T	20.37:g.36869844G>A	ENSP00000279024:p.Ala230Val		Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	8.311	0.822024	0.16678	.	.	ENSG00000149633	ENST00000279024	T	0.06142	3.34	5.46	-1.59	0.08453	.	1.610810	0.03319	N	0.191675	T	0.03651	0.0104	L	0.27053	0.805	0.09310	N	0.999996	B	0.12630	0.006	B	0.12156	0.007	T	0.31336	-0.9947	10	0.02654	T	1	.	1.4813	0.02437	0.2396:0.2927:0.3353:0.1324	.	230	Q5JYT7	K1755_HUMAN	V	230	ENSP00000279024:A230V	ENSP00000279024:A230V	A	-	2	0	KIAA1755	36303258	0.000000	0.05858	0.052000	0.19188	0.315000	0.28087	-0.105000	0.10907	-0.085000	0.12573	0.655000	0.94253	GCC		0.592	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		A	36869844	G	A	36869844	3	1	183	1	0	0	0	0	1	0	0	0	8259	1203	42	2	2961	2	KIAA1755	20	36869844	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	242231	36869844	26155676	750	11447											
PPP1R16B	26051	broad.mit.edu	37	20	37547271	37547272	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:37547271_37547272delAT	ENST00000299824.1	+	11	1855_1856	c.1666_1667delAT	c.(1666-1668)atgfs	p.M556fs	PPP1R16B_ENST00000373331.2_Frame_Shift_Del_p.M514fs	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	556					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CATAGAGGAGATGGAGGAGAAG	0.574																																																0																																										SO:0001589	frameshift_variant	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1666_1667delAT	20.37:g.37547271_37547272delAT	ENSP00000299824:p.Met556fs		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Frame_Shift_Del	DEL	ENST00000299824.1	37	CCDS13309.1																																																																																				0.574	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		-	37547272	AT	-	37547271	7	5	183	1	0	1	0	1	0	0	0	0	12371	333	12	0	1704	0	PPP1R16B	20	37547271	Frame_Shift_Del	DEL	AT	TCGA-B0-5098-01A-01D-1421-08	677427	37547271	25478249	751	11448											
LPIN3	64900	broad.mit.edu	37	20	39978750	39978750	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:39978750C>T	ENST00000373257.3	+	7	906	c.815C>T	c.(814-816)gCa>gTa	p.A272V		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	272					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AGAGCTGGGGCAACCTCTCCT	0.627																																																0													29	22	25					20																	39978750		2201	4299	6500	SO:0001583	missense	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.815C>T	20.37:g.39978750C>T	ENSP00000362354:p.Ala272Val		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792851	0.31685	.	.	ENSG00000132793	ENST00000373257	T	0.80304	-1.36	4.84	1.78	0.24846	.	2.106110	0.01729	N	0.028752	T	0.73032	0.3535	L	0.38175	1.15	0.09310	N	1	B;B	0.30851	0.012;0.297	B;B	0.31390	0.037;0.129	T	0.55952	-0.8059	9	.	.	.	2.3423	5.6155	0.17428	0.1573:0.6717:0.0:0.171	.	273;272	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	V	272	ENSP00000362354:A272V	.	A	+	2	0	LPIN3	39412164	0.001000	0.12720	0.000000	0.03702	0.119000	0.20118	0.795000	0.26972	0.288000	0.22398	0.591000	0.81541	GCA		0.627	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		T	39978750	C	T	39978750	3	4	183	1	0	0	0	0	1	0	0	0	8922	710	25	2	837	2	LPIN3	20	39978750	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	2431479	39978750	23046770	752	11449											
CHD6	84181	broad.mit.edu	37	20	40081515	40081515	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:40081515T>C	ENST00000373233.3	-	21	3365	c.3188A>G	c.(3187-3189)gAc>gGc	p.D1063G	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1063					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CATGAGCTCGTCTTCCTCAAA	0.527																																																0													149	117	128					20																	40081515		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3188A>G	20.37:g.40081515T>C	ENSP00000362330:p.Asp1063Gly		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615834	0.87359	.	.	ENSG00000124177	ENST00000373233	D	0.82526	-1.62	5.0	5.0	0.66597	.	0.000000	0.56097	D	0.000032	D	0.83138	0.5189	M	0.64997	1.995	0.80722	D	1	B	0.30824	0.296	B	0.36464	0.225	D	0.83898	0.0288	10	0.66056	D	0.02	-18.2391	15.0251	0.71663	0.0:0.0:0.0:1.0	.	1063	Q8TD26	CHD6_HUMAN	G	1063	ENSP00000362330:D1063G	ENSP00000362330:D1063G	D	-	2	0	CHD6	39514929	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.997000	0.88414	2.016000	0.59253	0.482000	0.46254	GAC		0.527	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			C	40081515	T	C	40081515	3	2	183	1	0	0	0	0	1	0	0	0	3331	1667	58	3	5027	3	CHD6	20	40081515	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	102765	40081515	22944005	753	11450											
PTPRT	11122	broad.mit.edu	37	20	41306678	41306678	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:41306678A>T	ENST00000373187.1	-	7	980	c.981T>A	c.(979-981)taT>taA	p.Y327*	PTPRT_ENST00000373198.4_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Y327*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Y327*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	327	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTGGTGCGATATTCCACTT	0.567																																																0													137	142	140					20																	41306678		2053	4208	6261	SO:0001587	stop_gained	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.981T>A	20.37:g.41306678A>T	ENSP00000362283:p.Tyr327*		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	A	37	6.483769	0.97603	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.32	-6.81	0.01704	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1174	0.86692	0.3747:0.0:0.6253:0.0	.	.	.	.	X	327	.	ENSP00000348408:Y327X	Y	-	3	2	PTPRT	40740092	0.967000	0.33354	0.712000	0.30502	0.751000	0.42716	0.136000	0.15974	-1.110000	0.02992	-0.290000	0.09829	TAT		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			T	41306678	A	T	41306678	4	4	183	1	0	0	0	0	0	1	0	0	12818	340	12	5	3505	5	PTPRT	20	41306678	Nonsense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1225163	41306678	21718842	754	11451											
NCOA3	8202	broad.mit.edu	37	20	46281225	46281225	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:46281225G>A	ENST00000371998.3	+	21	4213	c.4022G>A	c.(4021-4023)gGt>gAt	p.G1341D	NCOA3_ENST00000372004.3_Missense_Mutation_p.G1337D|NCOA3_ENST00000371997.3_Missense_Mutation_p.G1332D|NCOA3_ENST00000341724.6_Missense_Mutation_p.G1267D			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1341					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCAAGAATGGGTCCCTCCCAG	0.483																																																0													134	112	120					20																	46281225		2203	4300	6503	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.4022G>A	20.37:g.46281225G>A	ENSP00000361066:p.Gly1341Asp		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420798	0.83559	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.25414	1.8;4.51;4.52;1.8	5.23	4.27	0.50696	Domain of unknown function DUF1518 (1);	0.153849	0.45867	D	0.000331	T	0.47820	0.1466	M	0.63843	1.955	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.79784	0.993;0.993;0.993;0.988;0.993	T	0.51356	-0.8716	10	0.87932	D	0	-12.9147	14.4658	0.67482	0.0:0.2802:0.7198:0.0	.	1341;1344;1336;1337;1341	A8K0W8;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	D	1337;1267;1337;1341;1332	ENSP00000342123:G1267D;ENSP00000361073:G1337D;ENSP00000361066:G1341D;ENSP00000361065:G1332D	ENSP00000345671:G1337D	G	+	2	0	NCOA3	45714632	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	3.434000	0.52841	1.299000	0.44798	0.655000	0.94253	GGT		0.483	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		A	46281225	G	A	46281225	3	1	183	1	0	0	0	0	1	0	0	0	10232	1261	44	2	4126	2	NCOA3	20	46281225	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	4974547	46281225	16744295	755	11452											
ARFGEF2	10564	broad.mit.edu	37	20	47612354	47612354	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:47612354G>A	ENST00000371917.4	+	23	3156	c.3156G>A	c.(3154-3156)caG>caA	p.Q1052Q		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1052					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATAAAAGACAGATGGCCAGCT	0.433																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													202	190	194					20																	47612354		2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3156G>A	20.37:g.47612354G>A			Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	CCDS13411.1																																																																																				0.433	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47612354	G	A	47612354	2	1	183	1	0	0	0	0	0	0	0	1	853	933	33	2		2	ARFGEF2	20	47612354	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1331129	47612354	15413166	756	11453											
NFATC2	4773	broad.mit.edu	37	20	50140530	50140531	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:50140530_50140531insG	ENST00000396009.3	-	2	468_469	c.249_250insC	c.(247-252)cccggcfs	p.G84fs	NFATC2_ENST00000414705.1_Frame_Shift_Ins_p.G64fs|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000371564.3_Frame_Shift_Ins_p.G84fs|NFATC2_ENST00000609943.1_Frame_Shift_Ins_p.G64fs	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	84					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCGAATCGGCCGGGGGGCTCGC	0.663																																																0																																										SO:0001589	frameshift_variant	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.250dupC	20.37:g.50140536_50140536dupG	ENSP00000379330:p.Gly84fs		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Frame_Shift_Ins	INS	ENST00000396009.3	37	CCDS13437.1																																																																																				0.663	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		G	50140531	-	G	50140530	7	5	183	1	0	1	1	0	0	0	0	0	10364	652	23	0	2611	0	NFATC2	20	50140530	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	2528176	50140530	12884990	757	11454											
ZNF217	7764	broad.mit.edu	37	20	52193033	52193033	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:52193033G>A	ENST00000371471.2	-	4	2695	c.2270C>T	c.(2269-2271)cCg>cTg	p.P757L	ZNF217_ENST00000302342.3_Missense_Mutation_p.P757L|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	757					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAACGCTGGCGGGCATCCGGT	0.502																																																0													68	68	68					20																	52193033		2203	4300	6503	SO:0001583	missense	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2270C>T	20.37:g.52193033G>A	ENSP00000360526:p.Pro757Leu		E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666483	0.67814	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.77750	-1.12;-1.12	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	D	0.88720	0.6513	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89747	0.3937	10	0.87932	D	0	-27.5199	18.8963	0.92424	0.0:0.0:1.0:0.0	.	757	O75362	ZN217_HUMAN	L	757	ENSP00000360526:P757L;ENSP00000304308:P757L	ENSP00000304308:P757L	P	-	2	0	ZNF217	51626440	1.000000	0.71417	0.949000	0.38748	0.041000	0.13682	9.006000	0.93592	2.553000	0.86117	0.555000	0.69702	CCG		0.502	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		A	52193033	G	A	52193033	3	1	183	1	0	0	0	0	1	0	0	0	17777	1116	39	1	884	1	ZNF217	20	52193033	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2052503	52193033	10832487	758	11455											
CASS4	57091	broad.mit.edu	37	20	55027381	55027381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:55027381G>A	ENST00000360314.3	+	6	1374	c.1149G>A	c.(1147-1149)tgG>tgA	p.W383*	CASS4_ENST00000371336.3_Nonsense_Mutation_p.W383*|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	383	Ser-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ATTCCTCATGGTTCTCCAGAC	0.522																																																0													55	43	47					20																	55027381		2203	4300	6503	SO:0001587	stop_gained	57091			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1149G>A	20.37:g.55027381G>A	ENSP00000353462:p.Trp383*		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Nonsense_Mutation	SNP	ENST00000360314.3	37	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200657	0.94997	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	.	.	.	5.5	2.37	0.29283	.	1.988560	0.01921	N	0.040531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-0.093	12.3627	0.55213	0.0:0.2409:0.6339:0.1252	.	.	.	.	X	383	.	ENSP00000353462:W383X	W	+	3	0	CASS4	54460788	0.002000	0.14202	0.001000	0.08648	0.114000	0.19823	0.768000	0.26590	0.322000	0.23283	-0.175000	0.13238	TGG		0.522	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		A	55027381	G	A	55027381	4	1	183	1	0	0	0	0	0	1	0	0	2685	1270	44	2	1167	2	CASS4	20	55027381	Nonsense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2834348	55027381	7998139	759	11456											
C20orf151	140893	broad.mit.edu	37	20	60989485	60989485	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:60989485delG	ENST00000252998.1	-	10	1078	c.922delC	c.(922-924)ctgfs	p.L308fs		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	308						extracellular space (GO:0005615)											GCAGGGGCCAGGGGGCTGCTG	0.697																																																0													3	4	4					20																	60989485		1429	3053	4482	SO:0001589	frameshift_variant	140893			AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.922delC	20.37:g.60989485delG	ENSP00000252998:p.Leu308fs		B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Frame_Shift_Del	DEL	ENST00000252998.1	37	CCDS13498.1																																																																																				0.697	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		-	60989485	G	-	60989485	7	5	183	1	0	1	0	1	0	0	0	0	2093	991	35	0	1092	0	C20orf151	20	60989485	Frame_Shift_Del	DEL	G	TCGA-B0-5098-01A-01D-1421-08	5962104	60989485	2036035	760	11457											
YTHDF1	54915	broad.mit.edu	37	20	61845285	61845285	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr20:61845285A>G	ENST00000370339.3	-	3	404	c.63T>C	c.(61-63)ggT>ggC	p.G21G	YTHDF1_ENST00000370334.4_Silent_p.G21G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	21							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GATGTAACGAACCATTTTGTA	0.328																																																0													98	89	92					20																	61845285		2203	4300	6503	SO:0001819	synonymous_variant	54915			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.63T>C	20.37:g.61845285A>G			Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	CCDS13511.1																																																																																				0.328	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		G	61845285	A	G	61845285	2	3	183	1	0	0	0	0	0	0	0	1	17503	30	2	3		3	YTHDF1	20	61845285	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	855800	61845285	1180235	761	11458											
RBM11	54033	broad.mit.edu	37	21	15599295	15599295	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:15599295A>G	ENST00000400577.3	+	5	536	c.527A>G	c.(526-528)cAt>cGt	p.H176R	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	176					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCACTGAATCATGTTCCAGAT	0.453																																																0													202	189	193					21																	15599295		1932	4135	6067	SO:0001583	missense	54033			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.527A>G	21.37:g.15599295A>G	ENSP00000383421:p.His176Arg		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	A	4.280	0.051166	0.08243	.	.	ENSG00000185272	ENST00000400577	T	0.07444	3.19	2.74	-1.46	0.08800	.	1.766790	0.02381	N	0.078761	T	0.06826	0.0174	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34030	-0.9845	10	0.19147	T	0.46	2.4099	3.4648	0.07545	0.5431:0.2035:0.2534:0.0	.	176	P57052	RBM11_HUMAN	R	176	ENSP00000383421:H176R	ENSP00000383421:H176R	H	+	2	0	RBM11	14521166	0.000000	0.05858	0.000000	0.03702	0.860000	0.49131	-0.903000	0.04084	-0.287000	0.09064	0.352000	0.21897	CAT		0.453	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		G	15599295	A	G	15599295	3	3	183	1	0	0	0	0	1	0	0	0	13118	217	8	3	545	3	RBM11	21	15599295	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08		15599295	32530600	762	11459											
CCT8	10694	broad.mit.edu	37	21	30439048	30439048	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:30439048A>G	ENST00000286788.4	-	6	819	c.613T>C	c.(613-615)Tgt>Cgt	p.C205R	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.C132R|CCT8_ENST00000542732.1_Missense_Mutation_p.C186R	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	205					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGAATTTTACAAACTCTGATG	0.289																																																0													53	56	55					21																	30439048		2203	4297	6500	SO:0001583	missense	10694			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.613T>C	21.37:g.30439048A>G	ENSP00000286788:p.Cys205Arg		A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401772	0.83120	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.78246	-1.16;-1.16;-1.16	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.74258	2.255	0.80722	D	1	D;D;D;D;P	0.54601	0.967;0.96;0.967;0.959;0.925	P;P;P;P;B	0.60068	0.822;0.813;0.868;0.792;0.436	D	0.86907	0.2058	10	0.52906	T	0.07	-13.2436	16.5764	0.84681	1.0:0.0:0.0:0.0	.	132;186;205;204;205	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	R	204;205;186;132	ENSP00000286788:C205R;ENSP00000444984:C186R;ENSP00000442730:C132R	ENSP00000286788:C205R	C	-	1	0	CCT8	29360919	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	8.816000	0.91979	2.371000	0.80710	0.533000	0.62120	TGT		0.289	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			G	30439048	A	G	30439048	3	3	183	1	0	0	0	0	1	0	0	0	2962	130	5	3	1073	3	CCT8	21	30439048	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	14839753	30439048	17690847	763	11460											
KRTAP19-2	337969	broad.mit.edu	37	21	31859576	31859576	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:31859576C>A	ENST00000334055.3	-	1	179	c.92G>T	c.(91-93)aGa>aTa	p.R31I		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	31						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCACAGCCTCTGTGGCCACA	0.512																																																0													143	139	140					21																	31859576		2203	4300	6503	SO:0001583	missense	337969			AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"Keratin associated proteins"	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.92G>T	21.37:g.31859576C>A	ENSP00000335660:p.Arg31Ile			Missense_Mutation	SNP	ENST00000334055.3	37	CCDS13595.1	.	.	.	.	.	.	.	.	.	.	-	9.572	1.121272	0.20877	.	.	ENSG00000186965	ENST00000334055	T	0.10668	2.85	3.93	3.93	0.45458	.	.	.	.	.	T	0.19565	0.0470	.	.	.	0.09310	N	1	D	0.55385	0.971	P	0.52109	0.69	T	0.03898	-1.0994	8	0.87932	D	0	.	11.6309	0.51173	0.0:1.0:0.0:0.0	.	31	Q3LHN2	KR192_HUMAN	I	31	ENSP00000335660:R31I	ENSP00000335660:R31I	R	-	2	0	KRTAP19-2	30781447	0.044000	0.20184	0.006000	0.13384	0.029000	0.11900	1.860000	0.39428	2.184000	0.69523	0.591000	0.81541	AGA		0.512	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			A	31859576	C	A	31859576	3	1	183	1	0	0	0	0	1	0	0	0	8531	913	32	4	68	4	KRTAP19-2	21	31859576	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1420528	31859576	16270319	764	11461											
TIAM1	7074	broad.mit.edu	37	21	32492816	32492816	+	Missense_Mutation	SNP	C	C	T	rs143032407	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:32492816C>T	ENST00000286827.3	-	29	5117	c.4646G>A	c.(4645-4647)cGc>cAc	p.R1549H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1549					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGTGCCATGCGGGACGCGTG	0.597																																																0								C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	80	72	75		4646	4.9	1	21	dbSNP_134	75	0,8600		0,0,4300	yes	missense	TIAM1	NM_003253.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1549/1592	32492816	2,13004	2203	4300	6503	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4646G>A	21.37:g.32492816C>T	ENSP00000286827:p.Arg1549His		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310077	0.81247	4.54E-4	0.0	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.45276	0.9;0.92	4.95	4.95	0.65309	.	0.078275	0.46442	D	0.000294	T	0.51193	0.1660	L	0.47716	1.5	0.42271	D	0.992052	D;D	0.65815	0.995;0.991	P;P	0.52672	0.706;0.511	T	0.57165	-0.7858	10	0.87932	D	0	.	18.2147	0.89881	0.0:1.0:0.0:0.0	.	1489;1549	F5GZ53;Q13009	.;TIAM1_HUMAN	H	1549;1489	ENSP00000286827:R1549H;ENSP00000441570:R1489H	ENSP00000286827:R1549H	R	-	2	0	TIAM1	31414687	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.771000	0.47670	2.294000	0.77228	0.655000	0.94253	CGC		0.597	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		T	32492816	C	T	32492816	3	4	183	1	0	0	0	0	1	0	0	0	15895	768	27	1	133	1	TIAM1	21	32492816	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	633240	32492816	15637079	765	11462											
TIAM1	7074	broad.mit.edu	37	21	32513436	32513436	+	Splice_Site	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:32513436C>T	ENST00000286827.3	-	23	4245	c.3774G>A	c.(3772-3774)gaG>gaA	p.E1258E	TIAM1_ENST00000541036.1_Splice_Site_p.E1198E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1258					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1258E(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGACCCTCACCTCTTTTTTCT	0.398																																																2	Substitution - coding silent(2)	prostate(2)											71	67	68					21																	32513436		2203	4300	6503	SO:0001630	splice_region_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3774+1G>A	21.37:g.32513436C>T			B7ZLR6|F5GZ53|Q17RT7	Splice_Site	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.398	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	Silent	T	32513436	C	T	32513436	5	4	183	1	0	0	0	0	0	0	1	0	15895	695	24	2	1029	2	TIAM1	21	32513436	Splice_Site	SNP	C	TCGA-B0-5098-01A-01D-1421-08	20620	32513436	15616459	766	11463											
DOPEY2	9980	broad.mit.edu	37	21	37591690	37591690	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:37591690T>C	ENST00000399151.3	+	10	1235	c.1150T>C	c.(1150-1152)Ttg>Ctg	p.L384L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	384					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGTTGGGAATTTGTTTCTCGA	0.403																																																0													196	182	187					21																	37591690		2203	4300	6503	SO:0001819	synonymous_variant	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1150T>C	21.37:g.37591690T>C			D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	CCDS13643.1																																																																																				0.403	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		C	37591690	T	C	37591690	2	2	183	1	0	0	0	0	0	0	0	1	4710	1838	64	3		3	DOPEY2	21	37591690	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	5078254	37591690	10538205	767	11464											
DSCAM	1826	broad.mit.edu	37	21	41416060	41416060	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:41416060T>C	ENST00000400454.1	-	31	5805	c.5328A>G	c.(5326-5328)gcA>gcG	p.A1776A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1776					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTACTGATCCTGCAGCCCTGG	0.632																																					Melanoma(134;970 1778 1785 21664 32388)											0													127	135	133					21																	41416060		2181	4284	6465	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5328A>G	21.37:g.41416060T>C			O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.632	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		C	41416060	T	C	41416060	2	2	183	1	0	0	0	0	0	0	0	1	4770	1567	55	3		3	DSCAM	21	41416060	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	3824370	41416060	6713835	768	11465											
UMODL1	89766	broad.mit.edu	37	21	43519186	43519186	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:43519186A>G	ENST00000408910.2	+	7	1082	c.1082A>G	c.(1081-1083)cAg>cGg	p.Q361R	UMODL1_ENST00000400424.2_Missense_Mutation_p.Q289R|UMODL1_ENST00000400427.1_Missense_Mutation_p.Q289R|UMODL1_ENST00000408989.2_Missense_Mutation_p.Q361R	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	361	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACACAGAGCCAGGCACTGGCA	0.577																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											0													54	62	59					21																	43519186		2080	4206	6286	SO:0001583	missense	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1082A>G	21.37:g.43519186A>G	ENSP00000386147:p.Gln361Arg		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.610490	0.00835	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.29	-8.58	0.00897	Fibronectin, type III (2);	2.568640	0.01630	N	0.023509	T	0.15046	0.0363	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.17433	0.0;0.018;0.001	T	0.22591	-1.0212	10	0.18276	T	0.48	3.0446	0.0615	0.00015	0.3153:0.2304:0.2017:0.2526	.	289;361;361	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	R	289;289;361;361;207	ENSP00000383279:Q289R;ENSP00000383276:Q289R;ENSP00000386126:Q361R;ENSP00000386147:Q361R	ENSP00000369829:Q207R	Q	+	2	0	UMODL1	42392255	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.959000	0.03853	-2.385000	0.00590	-1.293000	0.01348	CAG		0.577	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			G	43519186	A	G	43519186	3	3	183	1	0	0	0	0	1	0	0	0	16985	188	7	3	1108	3	UMODL1	21	43519186	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2103126	43519186	4610709	769	11466											
RRP1B	23076	broad.mit.edu	37	21	45107597	45107597	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:45107597G>A	ENST00000340648.4	+	13	1459	c.1342G>A	c.(1342-1344)Gca>Aca	p.A448T		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	448					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CGAGCCAGGTGCAGAGGCCAC	0.662																																																0													27	30	29					21																	45107597		2201	4299	6500	SO:0001583	missense	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1342G>A	21.37:g.45107597G>A	ENSP00000339145:p.Ala448Thr		Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	3.574	-0.086948	0.07097	.	.	ENSG00000160208	ENST00000340648	T	0.31769	1.48	3.56	-3.14	0.05250	.	1.727610	0.03276	N	0.185470	T	0.15565	0.0375	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	10	0.87932	D	0	-0.1655	2.7599	0.05303	0.2547:0.2992:0.3456:0.1005	.	448	Q14684	RRP1B_HUMAN	T	448	ENSP00000339145:A448T	ENSP00000339145:A448T	A	+	1	0	RRP1B	43932025	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.685000	0.05167	-1.156000	0.02818	-1.786000	0.00637	GCA		0.662	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		A	45107597	G	A	45107597	3	1	183	1	0	0	0	0	1	0	0	0	13694	1319	46	2	1392	2	RRP1B	21	45107597	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	1588411	45107597	3022298	770	11467											
TRAPPC10	7109	broad.mit.edu	37	21	45523258	45523258	+	Missense_Mutation	SNP	G	G	A	rs138635982	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:45523258G>A	ENST00000291574.4	+	23	3801	c.3626G>A	c.(3625-3627)aGc>aAc	p.S1209N		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1209					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGCAGGGGCAGCGTGCATTCG	0.627													G|||	4	0.000798722	0.003	0.0	5008	,	,		19031	0.0		0.0	False		,,,				2504	0.0															0								G	ASN/SER	24,4382	30.8+/-60.4	0,24,2179	51	45	47		3626	4.9	0.9	21	dbSNP_134	47	1,8599		0,1,4299	yes	missense	TRAPPC10	NM_003274.4	46	0,25,6478	AA,AG,GG		0.0116,0.5447,0.1922	probably-damaging	1209/1260	45523258	25,12981	2203	4300	6503	SO:0001583	missense	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3626G>A	21.37:g.45523258G>A	ENSP00000291574:p.Ser1209Asn		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	CCDS13704.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	16.74	3.206627	0.58343	0.005447	1.16E-4	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.32272	1.46	4.9	4.9	0.64082	.	0.090137	0.85682	D	0.000000	T	0.38825	0.1055	L	0.46157	1.445	0.49483	D	0.999793	D;D	0.89917	1.0;0.997	D;D	0.75484	0.986;0.929	T	0.23797	-1.0178	10	0.46703	T	0.11	.	13.4299	0.61049	0.0:0.0:0.8431:0.1569	.	468;1209	B4DI17;P48553	.;TPC10_HUMAN	N	1209;340	ENSP00000291574:S1209N	ENSP00000291574:S1209N	S	+	2	0	TRAPPC10	44347686	1.000000	0.71417	0.929000	0.37066	0.195000	0.23768	7.209000	0.77916	2.419000	0.82065	0.655000	0.94253	AGC		0.627	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		A	45523258	G	A	45523258	3	1	183	1	0	0	0	0	1	0	0	0	16462	971	34	2	3716	2	TRAPPC10	21	45523258	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	415661	45523258	2606637	771	11468											
TRPM2	7226	broad.mit.edu	37	21	45795728	45795728	+	Missense_Mutation	SNP	G	G	A	rs201506177		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:45795728G>A	ENST00000397928.1	+	6	1229	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	TRPM2_ENST00000300481.9_Missense_Mutation_p.A262T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A262T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A262T|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	262					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAGCTTCCCCGCCGAGTACAT	0.602																																																0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	80	67	71		784	3.9	0.6	21		71	0,8600		0,0,4300	yes	missense	TRPM2	NM_003307.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	262/1504	45795728	1,13005	2203	4300	6503	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.784G>A	21.37:g.45795728G>A	ENSP00000381023:p.Ala262Thr		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987725	0.53934	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	4.78	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.82923	2.615	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.20240	-1.0281	10	0.62326	D	0.03	-22.6467	12.6761	0.56895	0.0797:0.0:0.9203:0.0	.	262;262	E9PGK7;O94759	.;TRPM2_HUMAN	T	262	ENSP00000300482:A262T;ENSP00000381023:A262T;ENSP00000300481:A262T;ENSP00000381026:A262T	ENSP00000300481:A262T	A	+	1	0	TRPM2	44620156	1.000000	0.71417	0.586000	0.28679	0.011000	0.07611	7.219000	0.78000	1.226000	0.43582	0.563000	0.77884	GCC		0.602	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45795728	G	A	45795728	3	1	183	1	0	0	0	0	1	0	0	0	16591	1087	38	1	806	1	TRPM2	21	45795728	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	272470	45795728	2334167	772	11469											
TRPM2	7226	broad.mit.edu	37	21	45819196	45819196	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:45819196T>C	ENST00000397928.1	+	14	2525	c.2080T>C	c.(2080-2082)Tac>Cac	p.Y694H	TRPM2_ENST00000300481.9_Missense_Mutation_p.Y674H|TRPM2_ENST00000397932.2_Missense_Mutation_p.Y694H|TRPM2_ENST00000300482.5_Missense_Mutation_p.Y694H|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	694					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CACCGAGTGCTACCGGAAGGA	0.642																																																0													63	63	63					21																	45819196		2203	4300	6503	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2080T>C	21.37:g.45819196T>C	ENSP00000381023:p.Tyr694His		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	T	7.336	0.619889	0.14193	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	5.08	3.91	0.45181	.	0.374896	0.28230	N	0.016115	D	0.90477	0.7017	M	0.73962	2.25	0.44539	D	0.997499	B;B;B	0.26483	0.15;0.074;0.15	B;B;B	0.25759	0.039;0.055;0.063	D	0.87291	0.2299	10	0.66056	D	0.02	-22.4206	10.0343	0.42120	0.0:0.0836:0.0:0.9164	.	694;480;694	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	694;694;674;694	ENSP00000300482:Y694H;ENSP00000381023:Y694H;ENSP00000300481:Y674H;ENSP00000381026:Y694H	ENSP00000300481:Y674H	Y	+	1	0	TRPM2	44643624	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	1.001000	0.29783	0.759000	0.33084	0.454000	0.30748	TAC		0.642	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		C	45819196	T	C	45819196	3	2	183	1	0	0	0	0	1	0	0	0	16591	1522	53	3	2134	3	TRPM2	21	45819196	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	23468	45819196	2310699	773	11470											
COL6A2	1292	broad.mit.edu	37	21	47532364	47532364	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr21:47532364T>C	ENST00000300527.4	+	3	691	c.587T>C	c.(586-588)cTg>cCg	p.L196P	COL6A2_ENST00000409416.1_Missense_Mutation_p.L196P|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000357838.4_Missense_Mutation_p.L196P|COL6A2_ENST00000310645.5_Missense_Mutation_p.L196P|COL6A2_ENST00000397763.1_Missense_Mutation_p.L196P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	196	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AACCAGAACCTGAAGGAGCAG	0.706																																																0													18	25	23					21																	47532364		2188	4271	6459	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.587T>C	21.37:g.47532364T>C	ENSP00000300527:p.Leu196Pro		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	T	9.895	1.205334	0.22205	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	4.34	1.61	0.23674	von Willebrand factor, type A (3);	0.456339	0.21826	N	0.068557	T	0.60209	0.2251	N	0.22421	0.69	0.29721	N	0.838662	B;B;B	0.22346	0.068;0.067;0.024	B;B;B	0.21360	0.034;0.028;0.023	T	0.53173	-0.8476	10	0.34782	T	0.22	-11.4546	7.5576	0.27833	0.139:0.0:0.1445:0.7165	.	196;196;196	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	P	196	ENSP00000300527:L196P;ENSP00000350497:L196P;ENSP00000312529:L196P;ENSP00000387115:L196P;ENSP00000380870:L196P	ENSP00000300527:L196P	L	+	2	0	COL6A2	46356792	0.190000	0.23276	0.349000	0.25694	0.951000	0.60555	2.002000	0.40835	0.603000	0.29913	0.383000	0.25322	CTG		0.706	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			C	47532364	T	C	47532364	3	2	183	1	0	0	0	0	1	0	0	0	3702	1580	55	3	593	3	COL6A2	21	47532364	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	1713168	47532364	597531	774	11471											
GAB4	128954	broad.mit.edu	37	22	17446137	17446137	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:17446137A>G	ENST00000400588.1	-	7	1417	c.1310T>C	c.(1309-1311)cTg>cCg	p.L437P	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	437										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGTTTCTCAGGTTGGGCGG	0.547																																																0													173	180	178					22																	17446137		2020	4215	6235	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1310T>C	22.37:g.17446137A>G	ENSP00000383431:p.Leu437Pro			Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.425901	0.25726	.	.	ENSG00000215568	ENST00000400588	T	0.35789	1.29	1.97	1.97	0.26223	.	0.000000	0.64402	D	0.000001	T	0.49270	0.1547	L	0.60067	1.865	0.53688	D	0.999971	D	0.76494	0.999	D	0.83275	0.996	T	0.42515	-0.9447	10	0.41790	T	0.15	.	7.8748	0.29586	1.0:0.0:0.0:0.0	.	437	Q2WGN9	GAB4_HUMAN	P	437	ENSP00000383431:L437P	ENSP00000383431:L437P	L	-	2	0	GAB4	15826137	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	8.088000	0.89523	1.148000	0.42385	0.338000	0.21704	CTG		0.547	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		G	17446137	A	G	17446137	3	3	183	1	0	0	0	0	1	0	0	0	6153	188	7	3	430	3	GAB4	22	17446137	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08		17446137	33858429	775	11472											
SERPIND1	3053	broad.mit.edu	37	22	21140426	21140426	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:21140426C>T	ENST00000215727.5	+	4	1581	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V	SERPIND1_ENST00000406799.1_Missense_Mutation_p.A433V|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	433					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CAAAGGATCGCCATCGACCTG	0.567																																																0													192	160	171					22																	21140426		2203	4300	6503	SO:0001583	missense	3053			M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1298C>T	22.37:g.21140426C>T	ENSP00000215727:p.Ala433Val		B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	8.001	0.755511	0.15846	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.87334	-2.24;-2.24	4.98	-1.78	0.07957	Serpin domain (3);	1.556280	0.02714	N	0.113191	T	0.70037	0.3178	N	0.03294	-0.36	0.20638	N	0.99987	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.60890	-0.7173	10	0.16420	T	0.52	.	6.4291	0.21786	0.1214:0.3676:0.0:0.511	.	433;433	Q8IVC0;P05546	.;HEP2_HUMAN	V	433	ENSP00000215727:A433V;ENSP00000384050:A433V	ENSP00000215727:A433V	A	+	2	0	SERPIND1	19470426	0.000000	0.05858	0.215000	0.23724	0.850000	0.48378	-0.521000	0.06245	-0.082000	0.12640	0.591000	0.81541	GCC		0.567	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		T	21140426	C	T	21140426	3	4	183	1	0	0	0	0	1	0	0	0	14116	739	26	2	1308	2	SERPIND1	22	21140426	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3694289	21140426	30164140	776	11473											
ZNF280B	140883	broad.mit.edu	37	22	22842771	22842771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:22842771delT	ENST00000406426.1	-	4	1695	c.953delA	c.(952-954)aatfs	p.N318fs	ZNF280B_ENST00000360412.2_Frame_Shift_Del_p.N318fs			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AAACTTAACATTTTTTAGAAC	0.463																																																0													139	130	133					22																	22842771		2203	4300	6503	SO:0001589	frameshift_variant	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.953delA	22.37:g.22842771delT	ENSP00000385998:p.Asn318fs			Frame_Shift_Del	DEL	ENST00000406426.1	37	CCDS13799.1																																																																																				0.463	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		-	22842771	T	-	22842771	7	5	183	1	0	1	0	1	0	0	0	0	17820	1493	52	0	682	0	ZNF280B	22	22842771	Frame_Shift_Del	DEL	T	TCGA-B0-5098-01A-01D-1421-08	1702345	22842771	28461795	777	11474											
NF2	4771	broad.mit.edu	37	22	30051666	30051666	+	Splice_Site	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:30051666G>A	ENST00000338641.4	+	6	1040		c.e6+1		NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000361452.4_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(5)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GCCGAGCCAGGTGAGGCCCAT	0.408			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	5	Unknown(5)	meninges(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	GRCh37	CS951487	NF2	S							83	87	85					22																	30051666		2203	4300	6503	SO:0001630	splice_region_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.599+1G>A	22.37:g.30051666G>A			O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954606	0.92726	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.036	0.92978	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28381666	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.653000	0.98506	2.484000	0.83849	0.555000	0.69702	.		0.408	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	A	30051666	G	A	30051666	5	1	183	1	0	0	0	0	0	0	1	0	10359	1275	44	2	622	2	NF2	22	30051666	Splice_Site	SNP	G	TCGA-B0-5098-01A-01D-1421-08	7208895	30051666	21252900	778	11475											
DEPDC5	9681	broad.mit.edu	37	22	32188793	32188793	+	Missense_Mutation	SNP	G	G	A	rs12158711	byFrequency	TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:32188793G>A	ENST00000382112.3	+	11	827	c.757G>A	c.(757-759)Gac>Aac	p.D253N	DEPDC5_ENST00000400246.1_Missense_Mutation_p.D253N|DEPDC5_ENST00000382105.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D253N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D253N|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000400248.2_Missense_Mutation_p.D253N|DEPDC5_ENST00000400242.3_Missense_Mutation_p.D253N|DEPDC5_ENST00000536766.1_Missense_Mutation_p.D225N	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	253					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCTATGAAGACTTTTACAA	0.368																																																0													134	125	127					22																	32188793		1813	4080	5893	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.757G>A	22.37:g.32188793G>A	ENSP00000371546:p.Asp253Asn		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	-	31	5.097048	0.94197	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.75938	-0.56;-0.42;-0.98;-0.19;-0.31;-0.28;-0.52;-0.32;-0.28;-0.31	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.998;0.992;0.997;0.999;0.999	D	0.92069	0.5663	10	0.87932	D	0	.	17.9795	0.89137	0.0:0.0:1.0:0.0	rs12158711;rs12158711	253;225;253;253;253;253	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	N	253;225;253;253;253;253;253;253;253;253;253	ENSP00000440210:D253N;ENSP00000441358:D225N;ENSP00000383101:D253N;ENSP00000266091:D253N;ENSP00000383108:D253N;ENSP00000383105:D253N;ENSP00000371539:D253N;ENSP00000371546:D253N;ENSP00000371545:D253N;ENSP00000383107:D253N	ENSP00000266091:D253N	D	+	1	0	DEPDC5	30518793	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.408000	0.97327	2.493000	0.84123	0.567000	0.79289	GAC		0.368	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		A	32188793	G	A	32188793	3	1	183	1	0	0	0	0	1	0	0	0	4444	942	33	2	799	2	DEPDC5	22	32188793	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	2137127	32188793	19115773	779	11476											
TRIOBP	11078	broad.mit.edu	37	22	38168624	38168624	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:38168624C>T	ENST00000406386.3	+	23	7208	c.6953C>T	c.(6952-6954)tCg>tTg	p.S2318L	TRIOBP_ENST00000403663.2_Missense_Mutation_p.S605L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2318					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGCTTCACCTCGGGAAAGTAC	0.622																																																0													74	83	80					22																	38168624		2125	4250	6375	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6953C>T	22.37:g.38168624C>T	ENSP00000384312:p.Ser2318Leu		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	c	34	5.335154	0.95758	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T	0.21932	1.98	4.95	4.95	0.65309	.	.	.	.	.	T	0.42899	0.1223	L	0.53249	1.67	0.52501	D	0.999954	D;D;D	0.76494	0.999;0.995;0.999	D;P;P	0.69142	0.962;0.682;0.873	T	0.31336	-0.9947	9	0.72032	D	0.01	.	18.3811	0.90451	0.0:1.0:0.0:0.0	.	2220;605;2318	Q9H2D6-2;F8W6V6;Q9H2D6	.;.;TARA_HUMAN	L	2318;605	ENSP00000384312:S2318L	ENSP00000386026:S605L	S	+	2	0	TRIOBP	36498570	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.128000	0.77217	2.561000	0.86390	0.556000	0.70494	TCG		0.622	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38168624	C	T	38168624	3	4	183	1	0	0	0	0	1	0	0	0	16558	893	31	1	7337	1	TRIOBP	22	38168624	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	5979831	38168624	13135942	780	11477											
EIF3L	51386	broad.mit.edu	37	22	38258975	38258975	+	Splice_Site	DEL	G	G	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:38258975delG	ENST00000412331.2	+	6	1017		c.e6-1		EIF3L_ENST00000406934.1_Splice_Site|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTTCTTTACAGGGGGGACCTT	0.383																																																0													84	84	84					22																	38258975		2203	4300	6503	SO:0001630	splice_region_variant	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.436-1G>-	22.37:g.38258975delG				Splice_Site	DEL	ENST00000412331.2	37	CCDS13960.1																																																																																				0.383	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	Intron	-	38258975	G	-	38258975	8	5	183	1	0	1	0	1	0	0	1	0	5024	1014	35	0	457	0	EIF3L	22	38258975	Splice_Site	DEL	G	TCGA-B0-5098-01A-01D-1421-08	90351	38258975	13045591	781	11478											
APOBEC3D	140564	broad.mit.edu	37	22	39425422	39425422	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:39425422A>G	ENST00000216099.8	+	5	1067	c.660A>G	c.(658-660)ctA>ctG	p.L220L	APOBEC3D_ENST00000381568.4_Silent_p.L220L|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	220					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTAAAAACCTACTGAAAGCCT	0.512																																																0													124	110	114					22																	39425422		1568	3582	5150	SO:0001819	synonymous_variant	140564			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.660A>G	22.37:g.39425422A>G			Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	37	CCDS46709.1																																																																																				0.512	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		G	39425422	A	G	39425422	2	3	183	1	0	0	0	0	0	0	0	1	792	378	14	3		3	APOBEC3D	22	39425422	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1166447	39425422	11879144	782	11479											
EP300	2033	broad.mit.edu	37	22	41574312	41574312	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:41574312A>G	ENST00000263253.7	+	31	7816	c.6597A>G	c.(6595-6597)ccA>ccG	p.P2199P	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2199	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGCAGGGCCAGGAATAGGCC	0.537			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													63	60	61					22																	41574312		2203	4300	6503	SO:0001819	synonymous_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6597A>G	22.37:g.41574312A>G			B1AKC2	Silent	SNP	ENST00000263253.7	37	CCDS14010.1																																																																																				0.537	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		G	41574312	A	G	41574312	2	3	183	1	0	0	0	0	0	0	0	1	5150	175	7	3		3	EP300	22	41574312	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	2148890	41574312	9730254	783	11480											
CELSR1	9620	broad.mit.edu	37	22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:46931227delC	ENST00000262738.3	-	1	1840	c.1841delG	c.(1840-1842)ggcfs	p.G615fs	CELSR1_ENST00000395964.1_Frame_Shift_Del_p.G615fs|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	615	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCGCTGCCGCCCCCCAGAAA	0.657																																																0													24	26	25					22																	46931227		2203	4296	6499	SO:0001589	frameshift_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1841delG	22.37:g.46931227delC	ENSP00000262738:p.Gly615fs		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Del	DEL	ENST00000262738.3	37	CCDS14076.1																																																																																				0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		-	46931227	C	-	46931227	7	5	183	1	0	1	0	1	0	0	0	0	3223	739	26	0	7343	0	CELSR1	22	46931227	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	5356915	46931227	4373339	784	11481											
ZBED4	9889	broad.mit.edu	37	22	50280639	50280639	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chr22:50280639C>A	ENST00000216268.5	+	2	3806	c.3329C>A	c.(3328-3330)tCc>tAc	p.S1110Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1110						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAGAAGGCGTCCTGGCCGGGG	0.582																																																0													59	52	54					22																	50280639		2203	4300	6503	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3329C>A	22.37:g.50280639C>A	ENSP00000216268:p.Ser1110Tyr		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860284	0.32884	.	.	ENSG00000100426	ENST00000216268	T	0.24723	1.84	5.17	4.14	0.48551	HAT dimerisation (1);Ribonuclease H-like (1);	0.691374	0.14161	N	0.337417	T	0.41143	0.1146	M	0.63843	1.955	0.37778	D	0.926924	P	0.52577	0.954	P	0.52109	0.69	T	0.49597	-0.8923	10	0.59425	D	0.04	-6.0973	15.8837	0.79222	0.0:0.8644:0.1356:0.0	.	1110	O75132	ZBED4_HUMAN	Y	1110	ENSP00000216268:S1110Y	ENSP00000216268:S1110Y	S	+	2	0	ZBED4	48666643	0.940000	0.31905	0.757000	0.31301	0.274000	0.26718	2.145000	0.42207	1.407000	0.46875	0.650000	0.86243	TCC		0.582	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		A	50280639	C	A	50280639	3	1	183	1	0	0	0	0	1	0	0	0	17525	855	30	4	3331	4	ZBED4	22	50280639	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	3349412	50280639	1023927	785	11482											
MXRA5	25878	broad.mit.edu	37	X	3235384	3235384	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:3235384G>A	ENST00000217939.6	-	6	6492	c.6338C>T	c.(6337-6339)gCg>gTg	p.A2113V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2113	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCTTGGGCGCGAGGTTGCG	0.667																																																0													37	32	33					X																	3235384		2202	4300	6502	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6338C>T	X.37:g.3235384G>A	ENSP00000217939:p.Ala2113Val		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	19.36	3.813245	0.70912	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68025	-0.3	3.63	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.229752	0.21380	U	0.075499	T	0.56411	0.1983	N	0.12611	0.24	0.09310	N	1	D	0.58970	0.984	P	0.49597	0.616	T	0.53472	-0.8434	10	0.37606	T	0.19	.	15.1094	0.72343	0.0:0.0:1.0:0.0	.	2113	Q9NR99	MXRA5_HUMAN	V	2113	ENSP00000217939:A2113V	ENSP00000217939:A2113V	A	-	2	0	MXRA5	3245384	0.092000	0.21681	0.997000	0.53966	0.969000	0.65631	2.689000	0.46993	1.440000	0.47531	0.597000	0.82753	GCG		0.667	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3235384	G	A	3235384	3	1	183	1	0	0	0	0	1	0	0	0	10005	1087	38	1	2156	1	MXRA5	23	3235384	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08		3235384	152035176	786	11483											
RPGR	6103	broad.mit.edu	37	X	38145101	38145101	+	Intron	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:38145101delC	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Frame_Shift_Del_p.E1051fs|RPGR_ENST00000342811.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tcttctccttccccctccttt	0.542																																																0													222	162	182					X																	38145101		2200	4298	6498	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1245G>-	X.37:g.38145101delC			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Frame_Shift_Del	DEL	ENST00000339363.3	37																																																																																					0.542	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		-	38145101	C	-	38145101	6	5	183	0	1	1	0	1	0	0	0	0	13554	864	30	0		0	RPGR	23	38145101	Intron	DEL	C	TCGA-B0-5098-01A-01D-1421-08	34909717	38145101	117125459	787	11484											
PHF16	9767	broad.mit.edu	37	X	46913820	46913820	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:46913820A>G	ENST00000218343.4	+	9	1531	c.1233A>G	c.(1231-1233)gtA>gtG	p.V411V	PHF16_ENST00000397189.1_Silent_p.V411V	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						ATTCCTTGGTACGAGTGGAAG	0.522																																																0													69	65	66					X																	46913820		2203	4300	6503	SO:0001819	synonymous_variant	9767																														ENST00000218343.4:c.1233A>G	X.37:g.46913820A>G				Silent	SNP	ENST00000218343.4	37	CCDS14271.1																																																																																				0.522	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			G	46913820	A	G	46913820	2	3	183	1	0	0	0	0	0	0	0	1	11829	378	14	3		3	PHF16	23	46913820	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	8768719	46913820	108356740	788	11485											
CACNA1F	778	broad.mit.edu	37	X	49071830	49071830	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:49071830T>C	ENST00000376265.2	-	28	3504	c.3443A>G	c.(3442-3444)tAc>tGc	p.Y1148C	CACNA1F_ENST00000376251.1_Missense_Mutation_p.Y1083C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Y1137C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1148	Dihydropyridine binding. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACAGTTTTGGTACTCCTGCTC	0.532																																																0													152	105	121					X																	49071830		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3443A>G	X.37:g.49071830T>C	ENSP00000365441:p.Tyr1148Cys		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	15.84	2.953006	0.53293	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96685	-4.09;-4.02;-4.02	5.49	5.49	0.81192	.	0.205057	0.42964	D	0.000623	D	0.98438	0.9480	M	0.92268	3.29	0.42137	D	0.991495	D;D	0.89917	0.998;1.0	D;D	0.91635	0.911;0.999	D	0.99819	1.1046	10	0.87932	D	0	.	13.5019	0.61462	0.0:0.0:0.0:1.0	.	1137;1148	F5CIQ9;O60840	.;CAC1F_HUMAN	C	1083;1137;1148	ENSP00000365427:Y1083C;ENSP00000321618:Y1137C;ENSP00000365441:Y1148C	ENSP00000321618:Y1137C	Y	-	2	0	CACNA1F	48958774	1.000000	0.71417	0.998000	0.56505	0.550000	0.35303	3.792000	0.55476	1.832000	0.53329	0.486000	0.48141	TAC		0.532	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		C	49071830	T	C	49071830	3	2	183	1	0	0	0	0	1	0	0	0	2545	1638	57	3	2574	3	CACNA1F	23	49071830	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2158010	49071830	106198730	789	11486											
ZMYM3	9203	broad.mit.edu	37	X	70465236	70465236	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:70465236T>C	ENST00000353904.2	-	18	3147	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.N989S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N989S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N987S|ZMYM3_ENST00000373998.1_Missense_Mutation_p.N975S	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	987					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATCCAAGACATTGGCCATCTT	0.532																																																0													123	83	96					X																	70465236		2203	4300	6503	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2960A>G	X.37:g.70465236T>C	ENSP00000343909:p.Asn987Ser		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	t	15.75	2.926467	0.52759	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.44881	1.51;0.91;1.51;1.5;1.51	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.14661	0.345	0.44754	D	0.997755	P;P	0.48834	0.916;0.863	P;B	0.50109	0.631;0.428	T	0.21518	-1.0243	10	0.40728	T	0.16	-15.4475	14.4236	0.67200	0.0:0.0:0.0:1.0	.	975;987	Q14202-2;Q14202	.;ZMYM3_HUMAN	S	987;975;987;989;989	ENSP00000322845:N987S;ENSP00000363110:N975S;ENSP00000343909:N987S;ENSP00000363096:N989S;ENSP00000363100:N989S	ENSP00000322845:N987S	N	-	2	0	ZMYM3	70381961	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.180000	0.42537	2.051000	0.60960	0.483000	0.47432	AAT		0.532	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		C	70465236	T	C	70465236	3	2	183	1	0	0	0	0	1	0	0	0	17706	1493	52	3	1184	3	ZMYM3	23	70465236	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	21393406	70465236	84805324	790	11487											
UPRT	139596	broad.mit.edu	37	X	74520734	74520734	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:74520734G>A	ENST00000373383.4	+	6	924	c.757G>A	c.(757-759)Gtt>Att	p.V253I	UPRT_ENST00000530743.1_Missense_Mutation_p.V117I|UPRT_ENST00000373379.1_Missense_Mutation_p.V253I	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	253					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGCTGTAAAGGTTCTTATAGA	0.373																																																0													144	119	128					X																	74520734		2203	4300	6503	SO:0001583	missense	139596			BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.757G>A	X.37:g.74520734G>A	ENSP00000362481:p.Val253Ile		Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764989	0.90020	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	D;D;D	0.91686	-2.89;-2.89;-2.89	5.44	5.44	0.79542	Phosphoribosyltransferase (1);	0.121403	0.53938	D	0.000041	D	0.95462	0.8526	M	0.76002	2.32	0.80722	D	1	D;D	0.55605	0.972;0.972	D;D	0.63793	0.918;0.918	D	0.95431	0.8516	10	0.52906	T	0.07	-4.5192	17.2439	0.87021	0.0:0.0:1.0:0.0	.	253;253	A8KAF9;Q96BW1	.;UPP_HUMAN	I	253;253;117	ENSP00000362481:V253I;ENSP00000362477:V253I;ENSP00000434037:V117I	ENSP00000362477:V253I	V	+	1	0	UPRT	74437459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.990000	0.93510	2.283000	0.76528	0.594000	0.82650	GTT		0.373	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		A	74520734	G	A	74520734	3	1	183	1	0	0	0	0	1	0	0	0	17019	1261	44	2	779	2	UPRT	23	74520734	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	4055498	74520734	80749826	791	11488											
TAF9B	51616	broad.mit.edu	37	X	77387115	77387115	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:77387115T>C	ENST00000341864.5	-	7	842	c.748A>G	c.(748-750)Att>Gtt	p.I250V		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	250					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CCTTACATAATATCATTGTCA	0.343													T|||	2	0.000529801	0.0	0.0029	3775	,	,		14173	0.0		0.0	False		,,,				2504	0.0															0													212	180	191					X																	77387115		2203	4296	6499	SO:0001583	missense	51616			AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.748A>G	X.37:g.77387115T>C	ENSP00000339917:p.Ile250Val		B2RUZ9|Q9Y2S3	Missense_Mutation	SNP	ENST00000341864.5	37	CCDS35340.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.262215	0.00262	.	.	ENSG00000187325	ENST00000341864	T	0.28454	1.61	4.52	3.31	0.37934	.	0.416426	0.26200	N	0.025742	T	0.10637	0.0260	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.35599	-0.9782	10	0.02654	T	1	-0.4264	3.8167	0.08818	0.0:0.1142:0.2198:0.6661	.	250	Q9HBM6	TAF9B_HUMAN	V	250	ENSP00000339917:I250V	ENSP00000339917:I250V	I	-	1	0	TAF9B	77273771	1.000000	0.71417	0.213000	0.23690	0.029000	0.11900	2.990000	0.49401	0.553000	0.29044	0.441000	0.28932	ATT		0.343	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975		C	77387115	T	C	77387115	3	2	183	1	0	0	0	0	1	0	0	0	15541	1406	49	3	11	3	TAF9B	23	77387115	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	2866381	77387115	77883445	792	11489											
PCDH11X	27328	broad.mit.edu	37	X	91090852	91090852	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:91090852G>T	ENST00000373094.1	+	1	1194	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	PCDH11X_ENST00000361724.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D117Y|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D117Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D117Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D117Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D117Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	117	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATTTTGCCGGATGAAATATT	0.393																																					NSCLC(38;925 1092 2571 38200 45895)											0													74	68	70					X																	91090852		2202	4281	6483	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.349G>T	X.37:g.91090852G>T	ENSP00000362186:p.Asp117Tyr		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642502	0.67244	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54866	0.55;0.59;0.61;0.55;0.62;0.59;0.59;0.61;0.62	4.44	4.44	0.53790	Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.77616	2.38	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.996;0.964;0.996;0.996;0.996;0.99;0.996;0.992	T	0.77365	-0.2615	10	0.72032	D	0.01	.	15.4133	0.74943	0.0:0.0:1.0:0.0	.	117;117;117;117;117;117;117;117	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Y	117	ENSP00000378746:D117Y;ENSP00000362186:D117Y;ENSP00000362189:D117Y;ENSP00000355040:D117Y;ENSP00000362180:D117Y;ENSP00000423762:D117Y;ENSP00000355105:D117Y;ENSP00000384758:D117Y;ENSP00000298274:D117Y	ENSP00000298274:D117Y	D	+	1	0	PCDH11X	90977508	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	5.852000	0.69488	2.173000	0.68751	0.506000	0.49869	GAT		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91090852	G	T	91090852	3	4	183	1	0	0	0	0	1	0	0	0	11510	1174	41	4	351	4	PCDH11X	23	91090852	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	13703737	91090852	64179708	793	11490											
NOX1	27035	broad.mit.edu	37	X	100103736	100103736	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:100103736T>C	ENST00000372966.3	-	12	1656	c.1451A>G	c.(1450-1452)cAt>cGt	p.H484R	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.H447R|NOX1_ENST00000217885.5_Missense_Mutation_p.H435R	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	484	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TAATGCTGCATGACCAACCTG	0.468																																																0													129	118	122					X																	100103736		2203	4300	6503	SO:0001583	missense	27035			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1451A>G	X.37:g.100103736T>C	ENSP00000362057:p.His484Arg		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	t	13.78	2.340722	0.41498	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;T;D	0.94280	-3.39;0.01;-3.39	3.78	2.59	0.31030	Ferric reductase, NAD binding (1);	0.256198	0.36703	N	0.002449	D	0.91573	0.7338	M	0.69358	2.11	0.42564	D	0.993158	B;P;P	0.40731	0.324;0.507;0.728	B;B;P	0.45794	0.224;0.361;0.493	D	0.86184	0.1608	10	0.18710	T	0.47	-0.4641	7.8278	0.29326	0.0:0.1033:0.0:0.8967	.	447;435;484	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	R	484;435;447	ENSP00000362057:H484R;ENSP00000217885:H435R;ENSP00000362051:H447R	ENSP00000217885:H435R	H	-	2	0	NOX1	99990392	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	6.033000	0.70925	0.475000	0.27415	0.424000	0.28305	CAT		0.468	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		C	100103736	T	C	100103736	3	2	183	1	0	0	0	0	1	0	0	0	10558	1464	51	3	251	3	NOX1	23	100103736	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	9012884	100103736	55166824	794	11491											
GLA	2717	broad.mit.edu	37	X	100656700	100656700	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:100656700G>A	ENST00000218516.3	-	3	488	c.467C>T	c.(466-468)gCc>gTc	p.A156V	GLA_ENST00000479445.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	156			A -> T (in FD; dbSNP:rs28935195). {ECO:0000269|PubMed:7599642}.|A -> V (in FD). {ECO:0000269|PubMed:7575533, ECO:0000269|PubMed:7759078, ECO:0000269|PubMed:9105656}.		glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						AAAGGTCTGGGCATCAATGTC	0.438																																					Colon(193;776 2816 31189 44474)											0			GRCh37	CM950588	GLA	M							158	140	146					X																	100656700		2203	4300	6503	SO:0001583	missense	2717			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.467C>T	X.37:g.100656700G>A	ENSP00000218516:p.Ala156Val		Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	G	36	5.878615	0.97055	.	.	ENSG00000102393	ENST00000218516	D	0.99879	-7.44	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.62435	0.902;0.705	D	0.96768	0.9566	9	0.72032	D	0.01	-14.6253	19.5104	0.95139	0.0:0.0:1.0:0.0	.	156;156	B4DLT5;P06280	.;AGAL_HUMAN	V	156	ENSP00000218516:A156V	ENSP00000218516:A156V	A	-	2	0	GLA	100543356	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.716000	0.98752	2.562000	0.86427	0.600000	0.82982	GCC		0.438	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			A	100656700	G	A	100656700	3	1	183	1	0	0	0	0	1	0	0	0	6428	1203	42	2	842	2	GLA	23	100656700	Missense_Mutation	SNP	G	TCGA-B0-5098-01A-01D-1421-08	552964	100656700	54613860	795	11492											
ATG4A	115201	broad.mit.edu	37	X	107381402	107381402	+	Nonsense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:107381402T>G	ENST00000372232.3	+	9	954	c.795T>G	c.(793-795)taT>taG	p.Y265*	ATG4A_ENST00000345734.3_Intron|ATG4A_ENST00000372254.3_Nonsense_Mutation_p.Y241*|ATG4A_ENST00000545696.1_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	265					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ATAACGCGTATTATTTCATAG	0.458																																																0													163	149	154					X																	107381402		2203	4300	6503	SO:0001587	stop_gained	115201			AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"AUT-like 2, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog A (S. cerevisiae)", "ATG4 autophagy related 4 homolog A (S. cerevisiae)"	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.795T>G	X.37:g.107381402T>G	ENSP00000361306:p.Tyr265*		A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Nonsense_Mutation	SNP	ENST00000372232.3	37	CCDS14538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	6.556822|6.556822	0.97663|0.97663	.|.	.|.	ENSG00000101844|ENSG00000101844	ENST00000394892|ENST00000372232;ENST00000372254;ENST00000457035	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.31765|.	0.0807|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20207|.	-1.0282|.	4|.	.|0.02654	.|T	.|1	-10.1154|-10.1154	9.7227|9.7227	0.40313|0.40313	0.0:0.0818:0.0:0.9182|0.0:0.0818:0.0:0.9182	.|.	.|.	.|.	.|.	S|X	238|265;241;188	.|.	.|ENSP00000361306:Y265X	I|Y	+|+	2|3	0|2	ATG4A|ATG4A	107268058|107268058	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.451000|2.451000	0.44952|0.44952	1.796000|1.796000	0.52611|0.52611	0.451000|0.451000	0.29950|0.29950	ATT|TAT		0.458	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		G	107381402	T	G	107381402	4	3	183	1	0	0	0	0	0	1	0	0	1096	1500	52	5	829	5	ATG4A	23	107381402	Nonsense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	6724702	107381402	47889158	796	11493											
GUCY2F	2986	broad.mit.edu	37	X	108631735	108631735	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:108631735C>A	ENST00000218006.2	-	15	3230	c.2939G>T	c.(2938-2940)cGa>cTa	p.R980L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	980	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAGGCCAATTCGAATTCGGAC	0.453																																																0													133	124	127					X																	108631735		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2939G>T	X.37:g.108631735C>A	ENSP00000218006:p.Arg980Leu		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	c	19.38	3.816423	0.70912	.	.	ENSG00000101890	ENST00000218006	D	0.88046	-2.33	4.06	3.2	0.36748	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.067391	0.64402	D	0.000011	D	0.95736	0.8613	H	0.99104	4.43	0.49582	D	0.999807	D	0.89917	1.0	D	0.85130	0.997	D	0.94905	0.8060	10	0.87932	D	0	.	8.9381	0.35713	0.0:0.8858:0.0:0.1142	.	980	P51841	GUC2F_HUMAN	L	980	ENSP00000218006:R980L	ENSP00000218006:R980L	R	-	2	0	GUCY2F	108518391	0.993000	0.37304	0.995000	0.50966	0.896000	0.52359	1.201000	0.32259	1.070000	0.40811	0.591000	0.81541	CGA		0.453	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		A	108631735	C	A	108631735	3	1	183	1	0	0	0	0	1	0	0	0	6900	884	31	4	407	4	GUCY2F	23	108631735	Missense_Mutation	SNP	C	TCGA-B0-5098-01A-01D-1421-08	1250333	108631735	46638825	797	11494											
ACSL4	2182	broad.mit.edu	37	X	108912280	108912280	+	Silent	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:108912280A>G	ENST00000469796.2	-	10	1644	c.1248T>C	c.(1246-1248)gaT>gaC	p.D416D	ACSL4_ENST00000348502.6_Silent_p.D375D|ACSL4_ENST00000340800.2_Silent_p.D416D			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	416					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AAAGAGGTGCATCATATCCCT	0.323																																					Pancreas(188;358 2127 38547 41466 45492)											0													143	136	138					X																	108912280		2203	4297	6500	SO:0001819	synonymous_variant	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1248T>C	X.37:g.108912280A>G			D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	ENST00000469796.2	37	CCDS14548.1																																																																																				0.323	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		G	108912280	A	G	108912280	2	3	183	1	0	0	0	0	0	0	0	1	179	214	8	3		3	ACSL4	23	108912280	Silent	SNP	A	TCGA-B0-5098-01A-01D-1421-08	280545	108912280	46358280	798	11495											
RHOXF1	158800	broad.mit.edu	37	X	119249701	119249701	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:119249701T>C	ENST00000217999.2	-	1	146	c.72A>G	c.(70-72)acA>acG	p.T24T	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	24					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						CCAGCTGAGGTGTGGGGCTTA	0.587																																																0													44	41	42					X																	119249701		2201	4296	6497	SO:0001819	synonymous_variant	158800				CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"Homeoboxes / PRD class"	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.72A>G	X.37:g.119249701T>C			O95030|Q3SYE0	Silent	SNP	ENST00000217999.2	37	CCDS14593.1																																																																																				0.587	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		C	119249701	T	C	119249701	2	2	183	1	0	0	0	0	0	0	0	1	13353	1683	59	3		3	RHOXF1	23	119249701	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	10337421	119249701	36020859	799	11496											
ATP1B4	23439	broad.mit.edu	37	X	119509328	119509328	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:119509328T>G	ENST00000218008.3	+	5	721	c.664T>G	c.(664-666)Ttt>Gtt	p.F222V	ATP1B4_ENST00000539306.1_Missense_Mutation_p.F179V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.F218V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	222					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GGCCTGCCAATTTAAGCGCTC	0.468																																																0													161	141	148					X																	119509328		2203	4300	6503	SO:0001583	missense	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.664T>G	X.37:g.119509328T>G	ENSP00000218008:p.Phe222Val		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.552913	0.45487	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.53206	0.63;0.63;0.63	5.36	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.70903	2.155	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.987;0.999;0.998	T	0.61792	-0.6990	10	0.38643	T	0.18	-17.6901	10.8825	0.46946	0.0:0.0:0.1558:0.8442	.	179;187;222;218	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	V	222;218;179	ENSP00000218008:F222V;ENSP00000355346:F218V;ENSP00000443334:F179V	ENSP00000218008:F222V	F	+	1	0	ATP1B4	119393356	1.000000	0.71417	0.998000	0.56505	0.102000	0.19082	7.634000	0.83273	0.672000	0.31204	-0.513000	0.04457	TTT		0.468	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		G	119509328	T	G	119509328	3	3	183	1	0	0	0	0	1	0	0	0	1135	1493	52	5	682	5	ATP1B4	23	119509328	Missense_Mutation	SNP	T	TCGA-B0-5098-01A-01D-1421-08	259627	119509328	35761232	800	11497											
BCORL1	63035	broad.mit.edu	37	X	129173135	129173135	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:129173135A>G	ENST00000218147.7	+	10	4693	c.4496A>G	c.(4495-4497)aAt>aGt	p.N1499S	BCORL1_ENST00000359304.2_Missense_Mutation_p.N1369S|BCORL1_ENST00000303743.5_Missense_Mutation_p.N1573S|BCORL1_ENST00000540052.1_Missense_Mutation_p.N1499S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1499					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCGGTGGTCAATGACAACCTG	0.572																																																0													139	92	108					X																	129173135		2203	4300	6503	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4496A>G	X.37:g.129173135A>G	ENSP00000218147:p.Asn1499Ser		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080756	0.36758	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.71222	-0.18;-0.55;-0.55;-0.18;-0.55	5.19	4.01	0.46588	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.65729	0.2719	L	0.37507	1.11	0.41329	D	0.98722	P;B	0.50443	0.935;0.407	P;B	0.48334	0.574;0.384	T	0.69661	-0.5085	9	0.72032	D	0.01	-13.1321	10.427	0.44385	0.9207:0.0:0.0793:0.0	.	1573;1499	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	S	1499;1573;1369;1499;1173	ENSP00000218147:N1499S;ENSP00000307541:N1573S;ENSP00000352253:N1369S;ENSP00000437775:N1499S;ENSP00000399483:N1173S	ENSP00000218147:N1499S	N	+	2	0	BCORL1	129000816	0.998000	0.40836	0.926000	0.36857	0.588000	0.36517	3.870000	0.56070	1.739000	0.51704	0.430000	0.28490	AAT		0.572	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		G	129173135	A	G	129173135	3	3	183	1	0	0	0	0	1	0	0	0	1387	101	4	3	4756	3	BCORL1	23	129173135	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	9663807	129173135	26097425	801	11498											
GPR112	139378	broad.mit.edu	37	X	135431755	135431755	+	Missense_Mutation	SNP	A	A	G	rs181533402		TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:135431755A>G	ENST00000394143.1	+	6	6181	c.5890A>G	c.(5890-5892)Atc>Gtc	p.I1964V	GPR112_ENST00000394141.1_Missense_Mutation_p.I1759V|GPR112_ENST00000412101.1_Missense_Mutation_p.I1759V|GPR112_ENST00000287534.4_Missense_Mutation_p.I1901V|GPR112_ENST00000370652.1_Missense_Mutation_p.I1964V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1964					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTAAGAGCTATCACTTCCAC	0.418													a|||	1	0.000264901	0.0008	0.0	3775	,	,		16526	0.0		0.0	False		,,,				2504	0.0															0													106	100	102					X																	135431755		2203	4299	6502	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5890A>G	X.37:g.135431755A>G	ENSP00000377699:p.Ile1964Val		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	a	0.013	-1.629845	0.00813	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.30448	1.56;1.56;1.53;1.66;1.53	4.21	-1.5	0.08691	.	.	.	.	.	T	0.14485	0.0350	N	0.24115	0.695	0.09310	N	1	B;B;B	0.21606	0.058;0.009;0.028	B;B;B	0.14023	0.01;0.003;0.007	T	0.25117	-1.0141	9	0.32370	T	0.25	.	0.4355	0.00478	0.35:0.2338:0.2425:0.1737	.	1901;1759;1964	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	V	1964;1964;1759;1901;1759	ENSP00000377699:I1964V;ENSP00000359686:I1964V;ENSP00000416526:I1759V;ENSP00000287534:I1901V;ENSP00000377697:I1759V	ENSP00000287534:I1901V	I	+	1	0	GPR112	135259421	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	0.327000	0.19663	-0.283000	0.09115	0.430000	0.28490	ATC		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			G	135431755	A	G	135431755	3	3	183	1	0	0	0	0	1	0	0	0	6631	449	16	3	5900	3	GPR112	23	135431755	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	6258620	135431755	19838805	802	11499											
PASD1	139135	broad.mit.edu	37	X	150780186	150780186	+	Silent	SNP	T	T	C			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:150780186T>C	ENST00000370357.4	+	4	413	c.168T>C	c.(166-168)tgT>tgC	p.C56C		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	56	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGATCATTTGTGTGGCTGAAA	0.333																																																0													279	231	247					X																	150780186		2203	4300	6503	SO:0001819	synonymous_variant	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.168T>C	X.37:g.150780186T>C			Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	CCDS35431.1																																																																																				0.333	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		C	150780186	T	C	150780186	2	2	183	1	0	0	0	0	0	0	0	1	11473	1702	59	3		3	PASD1	23	150780186	Silent	SNP	T	TCGA-B0-5098-01A-01D-1421-08	15348431	150780186	4490374	803	11500											
GABRQ	55879	broad.mit.edu	37	X	151821591	151821591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:151821591delC	ENST00000370306.2	+	9	1766	c.1746delC	c.(1744-1746)tgcfs	p.C582fs		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	582					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGATAGTTGCCCCCCAAGCC	0.517																																																0													109	94	99					X																	151821591		2203	4300	6503	SO:0001589	frameshift_variant	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1746delC	X.37:g.151821591delC	ENSP00000359329:p.Cys582fs		A6NFN1|Q32MB4|Q9NZK8	Frame_Shift_Del	DEL	ENST00000370306.2	37	CCDS14707.1																																																																																				0.517	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		-	151821591	C	-	151821591	7	5	183	1	0	1	0	1	0	0	0	0	6177	747	26	0	1780	0	GABRQ	23	151821591	Frame_Shift_Del	DEL	C	TCGA-B0-5098-01A-01D-1421-08	1041405	151821591	3448969	804	11501											
IDH3G	3421	broad.mit.edu	37	X	153059774	153059774	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:153059774A>G	ENST00000217901.5	-	1	204	c.8T>C	c.(7-9)cTg>cCg	p.L3P	IDH3G_ENST00000370092.3_Missense_Mutation_p.L3P|SSR4_ENST00000370086.3_5'Flank|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.L3P|SSR4_ENST00000370087.1_5'UTR|SSR4_ENST00000320857.3_5'UTR|SSR4_ENST00000370085.3_5'Flank	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	3					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTACCTTCAGCGCCATGAC	0.687																																																0													9	8	8					X																	153059774		2102	4075	6177	SO:0001583	missense	3421				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.8T>C	X.37:g.153059774A>G	ENSP00000217901:p.Leu3Pro		E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	a	13.99	2.402662	0.42613	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000444450	T;T;T;T	0.66280	-0.2;0.39;-0.19;-0.13	5.22	4.08	0.47627	.	0.538685	0.15927	N	0.237826	T	0.33265	0.0857	N	0.08118	0	0.80722	D	1	P;B	0.37864	0.61;0.38	B;B	0.29440	0.102;0.043	T	0.28554	-1.0040	10	0.62326	D	0.03	.	3.9191	0.09236	0.7929:0.0:0.2071:0.0	.	3;3	E9PDD5;P51553	.;IDH3G_HUMAN	P	3	ENSP00000359110:L3P;ENSP00000217901:L3P;ENSP00000359111:L3P;ENSP00000401862:L3P	ENSP00000217901:L3P	L	-	2	0	IDH3G	152712968	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.999000	0.40806	1.737000	0.51674	0.427000	0.28365	CTG		0.687	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			G	153059774	A	G	153059774	3	3	183	1	0	0	0	0	1	0	0	0	7500	188	7	3	1288	3	IDH3G	23	153059774	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	1238183	153059774	2210786	805	11502											
ATP6AP1	537	broad.mit.edu	37	X	153662708	153662708	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:153662708A>G	ENST00000369762.2	+	7	900	c.839A>G	c.(838-840)gAc>gGc	p.D280G	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	280					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGTACAAGGACCAGTGGGAG	0.557																																																0													147	125	132					X																	153662708		2203	4300	6503	SO:0001583	missense	537			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.839A>G	X.37:g.153662708A>G	ENSP00000358777:p.Asp280Gly		A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	A	0.915	-0.717791	0.03182	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000445849	.	.	.	5.31	-3.51	0.04696	.	0.820502	0.12018	N	0.507267	T	0.18173	0.0436	N	0.04746	-0.17	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.29274	-1.0017	9	0.15499	T	0.54	-2.2665	11.6706	0.51399	0.494:0.0:0.506:0.0	.	240;280	B3KR70;Q15904	.;VAS1_HUMAN	G	280;210;104	.	ENSP00000358777:D280G	D	+	2	0	ATP6AP1	153315902	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-0.069000	0.11542	-0.740000	0.04803	-0.395000	0.06472	GAC		0.557	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		G	153662708	A	G	153662708	3	3	183	1	0	0	0	0	1	0	0	0	1165	275	10	3	865	3	ATP6AP1	23	153662708	Missense_Mutation	SNP	A	TCGA-B0-5098-01A-01D-1421-08	602934	153662708	1607852	806	11503											
F8	2157	broad.mit.edu	37	X	154158320	154158320	+	Silent	SNP	G	G	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:154158320G>A	ENST00000360256.4	-	14	3945	c.3745C>T	c.(3745-3747)Ctg>Ttg	p.L1249L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1249	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTAGTGCTCAGTAAGAAAAGG	0.348																																																0													69	58	62					X																	154158320		2203	4300	6503	SO:0001819	synonymous_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3745C>T	X.37:g.154158320G>A			Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.348	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			A	154158320	G	A	154158320	2	1	183	1	0	0	0	0	0	0	0	1	5352	1020	36	2		2	F8	23	154158320	Silent	SNP	G	TCGA-B0-5098-01A-01D-1421-08	495612	154158320	1112240	807	11504											
BRCC3	79184	broad.mit.edu	37	X	154344352	154344353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5098-01A-01D-1421-08	TCGA-B0-5098-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1d2022-4a61-4652-9f0c-8c92dfcb6d38	6b061e59-9fc8-4777-89ea-8887bfbba9c1	g.chrX:154344352_154344353insA	ENST00000369462.1	+	9	669_670	c.644_645insA	c.(643-648)ccaatcfs	p.I216fs	BRCC3_ENST00000399042.1_Frame_Shift_Ins_p.I216fs|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000340647.4_Frame_Shift_Ins_p.I192fs|BRCC3_ENST00000330045.7_Frame_Shift_Ins_p.I191fs|BRCC3_ENST00000369459.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	216					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCGAAATCCCAATCCATATTG	0.436																																																0																																										SO:0001589	frameshift_variant	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.646dupA	X.37:g.154344354_154344354dupA	ENSP00000358474:p.Ile216fs		A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Frame_Shift_Ins	INS	ENST00000369462.1	37	CCDS56611.1																																																																																				0.436	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		A	154344353	-	A	154344352	7	5	183	1	0	1	1	0	0	0	0	0	1502	594	21	0	678	0	BRCC3	23	154344352	Frame_Shift_Ins	INS	-	TCGA-B0-5098-01A-01D-1421-08	186032	154344352	926208	808	11505											
RAD54L	8438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46726269	46726269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr1:46726269delC	ENST00000371975.4	+	6	1137	c.463delC	c.(463-465)cctfs	p.P155fs	RAD54L_ENST00000442598.1_Frame_Shift_Del_p.P155fs	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	155					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGTTTTGCGGCCTCATCAGAG	0.537								Direct reversal of damage;Homologous recombination																																								0													138	127	131					1																	46726269		2203	4300	6503	SO:0001589	frameshift_variant	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.463delC	1.37:g.46726269delC	ENSP00000361043:p.Pro155fs		Q5TE31|Q6IUY3	Frame_Shift_Del	DEL	ENST00000371975.4	37	CCDS532.1																																																																																				0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		-	46726269	C	-	46726269	7	5	184	1	0	1	0	1	0	0	0	0	12999	739	26	0	485	0	RAD54L	1	46726269	Frame_Shift_Del	DEL	C	TCGA-B0-5099-01A-01D-1421-08		46726269	202524352	1	11506											
CRYZ	1429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	75172631	75172631	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr1:75172631C>T	ENST00000340866.5	-	8	867	c.780G>A	c.(778-780)atG>atA	p.M260I	CRYZ_ENST00000370872.3_Missense_Mutation_p.M123I|CRYZ_ENST00000417775.1_Missense_Mutation_p.M260I|CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000370871.3_Missense_Mutation_p.M226I	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	260					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)	p.M260I(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	ACTCCTTTGCCATGGTGTCTC	0.363																																																1	Substitution - Missense(1)	kidney(1)											168	169	169					1																	75172631		2203	4300	6503	SO:0001583	missense	1429				CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.780G>A	1.37:g.75172631C>T	ENSP00000339399:p.Met260Ile		A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Missense_Mutation	SNP	ENST00000340866.5	37	CCDS665.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014841	0.35511	.	.	ENSG00000116791	ENST00000340866;ENST00000370872;ENST00000417775;ENST00000370871	T;T;T;T	0.26810	3.83;3.83;3.83;1.71	4.76	1.74	0.24563	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.124511	0.64402	N	0.000001	T	0.16085	0.0387	L	0.58428	1.81	0.58432	D	0.999994	B;B;B	0.29253	0.239;0.064;0.042	B;B;B	0.42995	0.404;0.119;0.078	T	0.05599	-1.0875	10	0.37606	T	0.19	-9.9975	6.5972	0.22681	0.1347:0.6623:0.1299:0.0731	.	123;226;260	Q5HYE7;A6NN60;Q08257	.;.;QOR_HUMAN	I	260;123;260;226	ENSP00000339399:M260I;ENSP00000359909:M123I;ENSP00000399805:M260I;ENSP00000359908:M226I	ENSP00000339399:M260I	M	-	3	0	CRYZ	74945219	0.995000	0.38212	0.316000	0.25252	0.366000	0.29705	3.299000	0.51826	0.254000	0.21573	0.591000	0.81541	ATG		0.363	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			T	75172631	C	T	75172631	3	4	184	1	0	0	0	0	1	0	0	0	3924	594	21	2	217	2	CRYZ	1	75172631	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08	28446362	75172631	174077990	2	11507											
SASS6	163786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100575995	100575995	+	Silent	SNP	A	A	G			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr1:100575995A>G	ENST00000287482.5	-	8	854	c.714T>C	c.(712-714)gaT>gaC	p.D238D	SASS6_ENST00000535161.1_Silent_p.D71D|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	238					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.D238D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GGATTTCTAAATCTTTTTTCT	0.328																																																1	Substitution - coding silent(1)	kidney(1)											164	156	159					1																	100575995		2203	4299	6502	SO:0001819	synonymous_variant	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.714T>C	1.37:g.100575995A>G			D3DT55|Q8N3K0	Silent	SNP	ENST00000287482.5	37	CCDS764.1																																																																																				0.328	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		G	100575995	A	G	100575995	2	3	184	1	0	0	0	0	0	0	0	1	13856	98	4	3		3	SASS6	1	100575995	Silent	SNP	A	TCGA-B0-5099-01A-01D-1421-08	25403364	100575995	148674626	3	11508											
CADM3	57863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159161760	159161760	+	Silent	SNP	G	G	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr1:159161760G>A	ENST00000368125.4	+	2	280	c.123G>A	c.(121-123)gtG>gtA	p.V41V	CADM3_ENST00000368124.4_Silent_p.V75V	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	41	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.V75V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AAACAGTGGTGGCTGGTGGCA	0.542																																																1	Substitution - coding silent(1)	kidney(1)											78	67	71					1																	159161760		2203	4300	6503	SO:0001819	synonymous_variant	57863			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.123G>A	1.37:g.159161760G>A			Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	CCDS44251.1																																																																																				0.542	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		A	159161760	G	A	159161760	2	1	184	1	0	0	0	0	0	0	0	1	2570	1335	47	2		2	CADM3	1	159161760	Silent	SNP	G	TCGA-B0-5099-01A-01D-1421-08	58585765	159161760	90088861	4	11509											
VANGL2	57216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160385972	160385972	+	Splice_Site	SNP	G	G	C			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr1:160385972G>C	ENST00000368061.2	+	3	666	c.192G>C	c.(190-192)cgG>cgC	p.R64R		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	64					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.R64R(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGATGAGCGGGTGAGCACTG	0.642																																																1	Substitution - coding silent(1)	kidney(1)											37	42	40					1																	160385972		2203	4300	6503	SO:0001630	splice_region_variant	57216			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.192+1G>C	1.37:g.160385972G>C			D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	CCDS30915.1																																																																																				0.642	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335	Silent	C	160385972	G	C	160385972	5	2	184	1	0	0	0	0	0	0	1	0	17125	1246	43	4	198	4	VANGL2	1	160385972	Splice_Site	SNP	G	TCGA-B0-5099-01A-01D-1421-08	1224212	160385972	88864649	5	11510											
CENPF	1063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214825173	214825173	+	Missense_Mutation	SNP	C	C	T	rs376987914		TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr1:214825173C>T	ENST00000366955.3	+	15	8272	c.8104C>T	c.(8104-8106)Cgg>Tgg	p.R2702W	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2798	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.R2702W(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATATCAGCTACGGCTTCATGA	0.433																																					Colon(80;575 1284 11000 14801 43496)											2	Substitution - Missense(2)	lung(1)|kidney(1)						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	102	105	104		8104	2.8	0	1		104	0,8600		0,0,4300	no	missense	CENPF	NM_016343.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2702/3115	214825173	1,13005	2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8104C>T	1.37:g.214825173C>T	ENSP00000355922:p.Arg2702Trp		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036601	0.35893	2.27E-4	0.0	ENSG00000117724	ENST00000366955;ENST00000391896	T	0.03496	3.91	3.91	2.8	0.32819	.	.	.	.	.	T	0.07593	0.0191	L	0.56769	1.78	0.09310	N	1	D	0.76494	0.999	P	0.50082	0.63	T	0.22661	-1.0210	9	0.59425	D	0.04	.	8.0726	0.30697	0.4234:0.5766:0.0:0.0	.	2798	P49454	CENPF_HUMAN	W	2702;101	ENSP00000355922:R2702W	ENSP00000355922:R2702W	R	+	1	2	CENPF	212891796	0.008000	0.16893	0.006000	0.13384	0.806000	0.45545	0.574000	0.23714	1.892000	0.54788	0.609000	0.83330	CGG		0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214825173	C	T	214825173	3	4	184	1	0	0	0	0	1	0	0	0	3233	527	19	1	8158	1	CENPF	1	214825173	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08	54439201	214825173	34425448	6	11511											
LGALS8	3964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	236711354	236711354	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr1:236711354A>C	ENST00000366584.4	+	10	1413	c.847A>C	c.(847-849)Aat>Cat	p.N283H	LGALS8_ENST00000352231.2_Missense_Mutation_p.N325H|LGALS8_ENST00000341872.6_Missense_Mutation_p.N283H|LGALS8_ENST00000527974.1_Missense_Mutation_p.N325H|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_Missense_Mutation_p.N283H|LGALS8_ENST00000526589.1_Missense_Mutation_p.N325H|LGALS8_ENST00000450372.2_Missense_Mutation_p.N325H|LGALS8_ENST00000323938.6_Missense_Mutation_p.N256H|LGALS8_ENST00000416919.2_Missense_Mutation_p.N266H|LGALS8_ENST00000525042.1_Missense_Mutation_p.N266H	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	283	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.N325H(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGTTGCAGTAAATGGCGTACA	0.383																																																1	Substitution - Missense(1)	kidney(1)											125	119	121					1																	236711354		2203	4300	6503	SO:0001583	missense	3964			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.847A>C	1.37:g.236711354A>C	ENSP00000355543:p.Asn283His		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.786269	0.70337	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.048075	0.85682	D	0.000000	T	0.59197	0.2176	H	0.95114	3.625	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.73088	-0.4093	10	0.87932	D	0	-17.1406	15.1035	0.72303	1.0:0.0:0.0:0.0	.	266;283;325	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	H	325;325;325;283;325;283;324;266;256;283;266	ENSP00000431398:N325H;ENSP00000309576:N325H;ENSP00000435460:N325H;ENSP00000342139:N283H;ENSP00000408657:N325H;ENSP00000355543:N283H;ENSP00000410843:N266H;ENSP00000434860:N256H;ENSP00000437040:N283H;ENSP00000431884:N266H	ENSP00000434860:N256H	N	+	1	0	LGALS8	234777977	1.000000	0.71417	0.737000	0.30932	0.980000	0.70556	5.487000	0.66863	2.212000	0.71576	0.528000	0.53228	AAT		0.383	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		C	236711354	A	C	236711354	3	2	184	1	0	0	0	0	1	0	0	0	8749	14	1	5	1011	5	LGALS8	1	236711354	Missense_Mutation	SNP	A	TCGA-B0-5099-01A-01D-1421-08	21886181	236711354	12539267	7	11512											
CCDC88A	55704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	55570817	55570817	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr2:55570817C>G	ENST00000436346.1	-	12	2141	c.1300G>C	c.(1300-1302)Gaa>Caa	p.E434Q	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E434Q|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E434Q|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E434Q	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	434					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.E434Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GATATCTGTTCCAGTTCCCAG	0.318																																																2	Substitution - Missense(2)	kidney(2)											128	123	125					2																	55570817		2203	4300	6503	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1300G>C	2.37:g.55570817C>G	ENSP00000410608:p.Glu434Gln		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	C	33	5.206299	0.95033	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.91	5.91	0.95273	.	0.000000	0.48767	U	0.000169	T	0.43986	0.1272	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.994;0.992	T	0.11155	-1.0599	10	0.56958	D	0.05	-20.6428	20.3011	0.98612	0.0:1.0:0.0:0.0	.	434;434;434	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Q	434	ENSP00000338728:E434Q;ENSP00000263630:E434Q;ENSP00000410608:E434Q;ENSP00000404431:E434Q	ENSP00000263630:E434Q	E	-	1	0	CCDC88A	55424321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.412000	0.80091	2.804000	0.96469	0.650000	0.86243	GAA		0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		G	55570817	C	G	55570817	3	3	184	1	0	0	0	0	1	0	0	0	2865	864	30	4	4399	4	CCDC88A	2	55570817	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08		55570817	187628556	8	11513											
SCN9A	6335	hgsc.bcm.edu;ucsc.edu	37	2	167060645	167060645	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr2:167060645delT	ENST00000409435.1	-	25	4593	c.4594delA	c.(4594-4596)atgfs	p.M1533fs	SCN9A_ENST00000375387.4_Frame_Shift_Del_p.M1534fs|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.M1522fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.M1534fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1533					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTACCATCATGGTTACCATG	0.338																																																0													118	107	110					2																	167060645		1886	4144	6030	SO:0001589	frameshift_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4594delA	2.37:g.167060645delT	ENSP00000386330:p.Met1533fs		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Del	DEL	ENST00000409435.1	37	CCDS46441.1																																																																																				0.338	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		-	167060645	T	-	167060645	7	5	184	1	0	1	0	1	0	0	0	0	13931	1464	51	0	1380	0	SCN9A	2	167060645	Frame_Shift_Del	DEL	T	TCGA-B0-5099-01A-01D-1421-08	111489828	167060645	76138728	9	11514											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191482	10191482	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr3:10191482delA	ENST00000256474.2	+	3	1315	c.475delA	c.(475-477)aaafs	p.K159fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.K118fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	159	Interaction with Elongin BC complex.		K -> E (in VHLD; type II).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.K159*(2)|p.L158_K159del(1)|p.T157fs*14(1)|p.K159fs*10(1)|p.K159fs*13(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.K159E(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.Y156*(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTATACTCTGAAAGAGCGATG	0.507		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Deletion - Frameshift(4)|Deletion - In frame(3)|Substitution - Nonsense(2)|Complex - frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(11)|adrenal_gland(1)	GRCh37	CM961430	VHL	M							90	82	84					3																	10191482		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.475delA	3.37:g.10191482delA	ENSP00000256474:p.Lys159fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191482	A	-	10191482	7	5	184	1	0	1	0	1	0	0	0	0	17167	247	9	0	485	0	VHL	3	10191482	Frame_Shift_Del	DEL	A	TCGA-B0-5099-01A-01D-1421-08		10191482	187830948	10	11515											
SFMBT1	51460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52960072	52960073	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr3:52960072_52960073GC>CT	ENST00000394752.3	-	10	1487_1488	c.1105_1106GC>AG	c.(1105-1107)GCt>AGt	p.A369S	SFMBT1_ENST00000296295.6_Missense_Mutation_p.A369S|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A369S|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A369S	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	369					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.A369T(1)|p.A369G(1)|p.A369S(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGGGGAGCAGCTTCAGCACCA	0.574																																																3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1105_1106delinsCT	3.37:g.52960072_52960073delinsCT	ENSP00000378235:p.Ala369Ser		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	CCDS2867.1																																																																																				0.574	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		CT	52960073	GC	CT	52960072	3	2	184	1	0	0	0	0	1	0	0	0	14163	971	34	4	1542	4	SFMBT1	3	52960072	Missense_Mutation	DNP	GC	TCGA-B0-5099-01A-01D-1421-08	42768590	52960072	145062358	11	11516											
YTHDC1	91746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	69204039	69204039	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr4:69204039T>C	ENST00000344157.4	-	2	427	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	YTHDC1_ENST00000355665.3_Missense_Mutation_p.Y31C|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Y31C	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	31					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y31C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTCTGGATTATACAGTTCATC	0.279																																																1	Substitution - Missense(1)	kidney(1)											97	91	93					4																	69204039		2199	4295	6494	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.92A>G	4.37:g.69204039T>C	ENSP00000339245:p.Tyr31Cys		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800648	0.50315	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.27104	1.69;1.73	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	N	0.11560	0.145	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.99	T	0.29274	-1.0017	10	0.37606	T	0.19	.	15.6407	0.76997	0.0:0.0:0.0:1.0	.	31;31	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	C	31	ENSP00000339245:Y31C;ENSP00000347888:Y31C	ENSP00000339245:Y31C	Y	-	2	0	YTHDC1	68886634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.143000	0.66587	0.528000	0.53228	TAT		0.279	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		C	69204039	T	C	69204039	3	2	184	1	0	0	0	0	1	0	0	0	17501	1406	49	3	2155	3	YTHDC1	4	69204039	Missense_Mutation	SNP	T	TCGA-B0-5099-01A-01D-1421-08		69204039	121950237	12	11517											
PPA2	27068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	106395063	106395063	+	Missense_Mutation	SNP	G	G	A	rs142379853		TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr4:106395063G>A	ENST00000341695.5	-	1	175	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	PPA2_ENST00000357415.4_Missense_Mutation_p.R49C|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000432483.2_Missense_Mutation_p.R49C|PPA2_ENST00000354147.3_Missense_Mutation_p.R49C|PPA2_ENST00000380004.2_Missense_Mutation_p.R49C|PPA2_ENST00000310267.7_5'UTR|PPA2_ENST00000348706.5_Missense_Mutation_p.R49C	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	49					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)	p.R49C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		AAGAAGAGGCGGTAATTCTGC	0.672											OREG0016281	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4403		0,1,2201	22	25	24		145,145,145,145	3.2	0.8	4	dbSNP_134	24	0,8594		0,0,4297	no	missense,missense,missense,missense	PPA2	NM_006903.4,NM_176866.2,NM_176867.3,NM_176869.2	180,180,180,180	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	49/306,49/233,49/169,49/335	106395063	1,12997	2202	4297	6499	SO:0001583	missense	27068				CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.145C>T	4.37:g.106395063G>A	ENSP00000343885:p.Arg49Cys	1396	B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	ENST00000341695.5	37	CCDS3667.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801780	0.31869	2.27E-4	0.0	ENSG00000138777	ENST00000341695;ENST00000348706;ENST00000354147;ENST00000432483;ENST00000357415;ENST00000380004;ENST00000510015;ENST00000504028	T;T;T;T;T;T;T;T	0.60171	0.73;0.73;0.21;0.73;0.73;0.73;0.73;0.73	3.19	3.19	0.36642	.	0.214648	0.36444	N	0.002582	T	0.68035	0.2957	M	0.78344	2.41	0.80722	D	1	P;D;P;B;B	0.76494	0.948;0.999;0.544;0.218;0.408	B;P;B;B;B	0.56343	0.096;0.796;0.236;0.049;0.097	T	0.72707	-0.4212	10	0.72032	D	0.01	-13.1555	10.0509	0.42214	0.0:0.0:1.0:0.0	.	49;49;49;49;49	Q9H2U2-4;F8WDN9;Q9H2U2-3;E2QRM6;Q9H2U2	.;.;.;.;IPYR2_HUMAN	C	49	ENSP00000343885:R49C;ENSP00000313061:R49C;ENSP00000340352:R49C;ENSP00000389957:R49C;ENSP00000349996:R49C;ENSP00000369340:R49C;ENSP00000423363:R49C;ENSP00000421177:R49C	ENSP00000343885:R49C	R	-	1	0	PPA2	106614512	1.000000	0.71417	0.758000	0.31321	0.012000	0.07955	3.047000	0.49854	1.770000	0.52166	0.455000	0.32223	CGC		0.672	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250704.4	NM_176869		A	106395063	G	A	106395063	3	1	184	1	0	0	0	0	1	0	0	0	12289	1116	39	1	907	1	PPA2	4	106395063	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	37191024	106395063	84759213	13	11518											
NPNT	255743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	106848531	106848531	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr4:106848531G>A	ENST00000379987.2	+	3	427	c.211G>A	c.(211-213)Ggg>Agg	p.G71R	NPNT_ENST00000305572.8_Missense_Mutation_p.G71R|RP11-710F7.2_ENST00000512514.1_RNA|NPNT_ENST00000514622.1_Missense_Mutation_p.G71R|NPNT_ENST00000506666.1_Missense_Mutation_p.G71R|NPNT_ENST00000427316.2_Missense_Mutation_p.G71R|RP11-710F7.2_ENST00000511059.1_RNA|NPNT_ENST00000453617.2_Missense_Mutation_p.G88R|NPNT_ENST00000513430.1_3'UTR	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	71	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.G71R(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAATGTATCGGGCCAAACAA	0.413																																																1	Substitution - Missense(1)	kidney(1)											141	113	122					4																	106848531		2203	4300	6503	SO:0001583	missense	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.211G>A	4.37:g.106848531G>A	ENSP00000369323:p.Gly71Arg		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.428949|4.428949	0.83667|0.83667	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	D;D;D;D;D;D;D|.	0.83250|.	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73450|0.73450	0.3588|0.3588	L|L	0.58428|0.58428	1.81|1.81	0.80722|0.80722	D|D	1|1	D;D;D;D;P;D|.	0.61080|.	0.989;0.977;0.987;0.958;0.937;0.98|.	P;P;P;P;P;P|.	0.57679|.	0.781;0.65;0.777;0.65;0.664;0.825|.	T|T	0.68750|0.68750	-0.5326|-0.5326	10|5	0.87932|.	D|.	0|.	.|.	19.9435|19.9435	0.97174|0.97174	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	71;71;71;88;71;71|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;NPNT_HUMAN|.	R|Q	71;88;71;71;71;71;88|47	ENSP00000369323:G71R;ENSP00000402884:G88R;ENSP00000389252:G71R;ENSP00000422044:G71R;ENSP00000302557:G71R;ENSP00000422474:G71R;ENSP00000426146:G88R|.	ENSP00000302557:G71R|.	G|R	+|+	1|2	0|0	NPNT|NPNT	107067980|107067980	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.261000|0.261000	0.26267|0.26267	9.650000|9.650000	0.98490|0.98490	2.885000|2.885000	0.99019|0.99019	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.413	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		A	106848531	G	A	106848531	3	1	184	1	0	0	0	0	1	0	0	0	10592	1116	39	1	276	1	NPNT	4	106848531	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	453468	106848531	84305745	14	11519											
IL21	59067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	123542048	123542048	+	Missense_Mutation	SNP	C	C	T	rs141748932		TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr4:123542048C>T	ENST00000264497.3	-	1	176	c.119G>A	c.(118-120)cGt>cAt	p.R40H	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	33					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)	p.R40H(2)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TATAAGTTGACGCATTCTAAT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		19969	0.0		0.001	False		,,,				2504	0.0															2	Substitution - Missense(2)	large_intestine(1)|kidney(1)						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	125	121	122		119,119	0	1	4	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	IL21	NM_021803.2,NM_001207006.1	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	40/163,40/154	123542048	2,13004	2203	4300	6503	SO:0001583	missense	59067			AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"Interleukins and interleukin receptors"	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.119G>A	4.37:g.123542048C>T	ENSP00000264497:p.Arg40His		A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	37	CCDS3727.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.30	1.895179	0.33442	0.0	2.33E-4	ENSG00000138684	ENST00000264497	.	.	.	5.63	-0.0121	0.13989	.	0.724719	0.12759	N	0.441510	T	0.41328	0.1154	M	0.66939	2.045	0.09310	N	1	B;B	0.20261	0.035;0.043	B;B	0.19148	0.014;0.024	T	0.39210	-0.9625	9	0.52906	T	0.07	-2.9323	5.8143	0.18484	0.3248:0.4574:0.0:0.2178	.	33;33	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	H	40	.	ENSP00000264497:R40H	R	-	2	0	IL21	123761498	0.926000	0.31397	0.986000	0.45419	0.995000	0.86356	0.902000	0.28459	0.027000	0.15297	0.655000	0.94253	CGT		0.363	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		T	123542048	C	T	123542048	3	4	184	1	0	0	0	0	1	0	0	0	7672	536	19	1	389	1	IL21	4	123542048	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08	16693517	123542048	67612228	15	11520											
RAI14	26064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	34757614	34757614	+	Silent	SNP	C	C	G			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr5:34757614C>G	ENST00000265109.3	+	3	365	c.78C>G	c.(76-78)gcC>gcG	p.A26A	RAI14_ENST00000397449.1_Silent_p.A19A|RAI14_ENST00000428746.2_Silent_p.A26A|RAI14_ENST00000512629.1_Silent_p.A26A|RAI14_ENST00000515799.1_Silent_p.A29A|RAI14_ENST00000503673.1_Silent_p.A26A|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Silent_p.A18A	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	26						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A26A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TACTGCAGGCCGTGGAGAATG	0.552																																																1	Substitution - coding silent(1)	kidney(1)											93	90	91					5																	34757614		2203	4300	6503	SO:0001819	synonymous_variant	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.78C>G	5.37:g.34757614C>G			E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.552	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		G	34757614	C	G	34757614	2	3	184	1	0	0	0	0	0	0	0	1	13014	639	23	4		4	RAI14	5	34757614	Silent	SNP	C	TCGA-B0-5099-01A-01D-1421-08		34757614	146157646	16	11521											
CCDC112	153733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	114620509	114620509	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs187304678		TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr5:114620509G>A	ENST00000512261.1	-	0	252				CCDC112_ENST00000379611.5_Missense_Mutation_p.R72C|CCDC112_ENST00000506442.1_De_novo_Start_OutOfFrame|CCDC112_ENST00000395557.4_De_novo_Start_OutOfFrame|CCDC112_ENST00000503027.1_Intron			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112									p.R72C(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCTGCTGTGCGTACAAATTCT	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		16473	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											60	58	59					5																	114620509		2202	4300	6502			153733			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.-165C>T	5.37:g.114620509G>A			Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.1	3.938636	0.73557	.	.	ENSG00000164221	ENST00000379611	T	0.27890	1.64	5.57	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.56823	-0.7915	9	0.87932	D	0	-0.6437	14.1589	0.65434	0.0:0.0:0.783:0.217	.	72	Q8NEF3-2	.	C	72	ENSP00000368931:R72C	ENSP00000368931:R72C	R	-	1	0	CCDC112	114648408	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	2.760000	0.47581	2.785000	0.95823	0.655000	0.94253	CGC		0.313	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		A	114620509	G	A	114620509	1	1	184	1	0	1	0	0	0	0	0	0	2751	1145	40	1		1	CCDC112	5	114620509	De_novo_Start_OutOfFrame	SNP	G	TCGA-B0-5099-01A-01D-1421-08	79862895	114620509	66294751	17	11522											
RAPGEF6	51735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	130764648	130764648	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr5:130764648T>G	ENST00000509018.1	-	27	4932	c.4727A>C	c.(4726-4728)cAg>cCg	p.Q1576P	RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.Q1584P|RAPGEF6_ENST00000507093.1_Intron|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.Q1626P	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1576					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.Q1576P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATGGAATGGCTGCAAATTATG	0.458																																					Melanoma(168;435 1955 13113 13877 23213)											1	Substitution - Missense(1)	kidney(1)											132	123	126					5																	130764648		2203	4300	6503	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4727A>C	5.37:g.130764648T>G	ENSP00000421684:p.Gln1576Pro		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.143942	0.37825	.	.	ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000296859;ENST00000514667	T;T;T	0.24151	1.87;1.87;1.96	4.72	4.72	0.59763	.	0.370611	0.25941	N	0.027304	T	0.25457	0.0619	L	0.44542	1.39	0.80722	D	1	P;P;P	0.46706	0.883;0.883;0.883	B;B;B	0.42188	0.379;0.379;0.379	T	0.02991	-1.1085	10	0.46703	T	0.11	.	14.3443	0.66649	0.0:0.0:0.0:1.0	.	1584;1626;1576	B7ZML2;E9PCH4;Q8TEU7	.;.;RPGF6_HUMAN	P	1576;1584;1626	ENSP00000421684:Q1576P;ENSP00000296859:Q1584P;ENSP00000426948:Q1626P	ENSP00000426948:Q1626P	Q	-	2	0	RAPGEF6;FNIP1	130792547	1.000000	0.71417	0.996000	0.52242	0.303000	0.27691	3.936000	0.56568	1.996000	0.58369	0.533000	0.62120	CAG		0.458	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		G	130764648	T	G	130764648	3	3	184	1	0	0	0	0	1	0	0	0	13054	1580	55	5	86	5	RAPGEF6	5	130764648	Missense_Mutation	SNP	T	TCGA-B0-5099-01A-01D-1421-08	16144139	130764648	50150612	18	11523											
P4HA2	8974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131543565	131543565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr5:131543565G>A	ENST00000401867.1	-	9	1484	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	P4HA2_ENST00000379104.2_Nonsense_Mutation_p.Q306*|P4HA2_ENST00000360568.3_Nonsense_Mutation_p.Q306*|P4HA2_ENST00000379086.1_Nonsense_Mutation_p.Q306*|P4HA2_ENST00000379100.2_Nonsense_Mutation_p.Q306*|P4HA2_ENST00000166534.4_Nonsense_Mutation_p.Q306*			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	306					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.Q306*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	AGCCTCTTCTGTCTACGGGGT	0.577																																					Esophageal Squamous(68;117 1135 17362 19256 34242)											1	Substitution - Nonsense(1)	kidney(1)											139	141	140					5																	131543565		2203	4300	6503	SO:0001587	stop_gained	8974			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.916C>T	5.37:g.131543565G>A	ENSP00000384999:p.Gln306*		D3DQ85|D3DQ86|Q8WWN0	Nonsense_Mutation	SNP	ENST00000401867.1	37	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	G	40	8.409539	0.98799	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	.	.	.	5.87	4.96	0.65561	.	0.164529	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-23.3121	17.0006	0.86380	0.0:0.0:0.8724:0.1276	.	.	.	.	X	306	.	ENSP00000166534:Q306X	Q	-	1	0	P4HA2	131571464	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.294000	0.65687	2.941000	0.99782	0.655000	0.94253	CAG		0.577	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		A	131543565	G	A	131543565	4	1	184	1	0	0	0	0	0	1	0	0	11359	1386	48	2	787	2	P4HA2	5	131543565	Nonsense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	778917	131543565	49371695	19	11524											
PCBD2	84105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	134294744	134294744	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr5:134294744G>T	ENST00000512783.1	+	3	251	c.231G>T	c.(229-231)atG>atT	p.M77I	PCBD2_ENST00000510013.1_3'UTR|PCBD2_ENST00000254908.6_Missense_Mutation_p.M77I			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	77					positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein homotetramerization (GO:0051289)|tetrahydrobiopterin biosynthetic process (GO:0006729)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	4-alpha-hydroxytetrahydrobiopterin dehydratase activity (GO:0008124)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.M77I(1)		kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGGCTTTATGTCCCGAGTTG	0.413																																																1	Substitution - Missense(1)	kidney(1)											124	117	119					5																	134294744		1944	4151	6095	SO:0001583	missense	84105			AF499009	CCDS43364.1	5q31.1	2008-02-05	2006-01-10			ENSG00000132570			24474	protein-coding gene	gene with protein product		609836	"6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2"			15182178, 11980910	Standard	NM_032151		Approved	DCOHM, DCOH2	uc010jdz.3	Q9H0N5		ENST00000512783.1:c.231G>T	5.37:g.134294744G>T	ENSP00000421544:p.Met77Ile		Q8TD40	Missense_Mutation	SNP	ENST00000512783.1	37	CCDS43364.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492215	0.84962	.	.	ENSG00000132570	ENST00000254908;ENST00000512783	D;D	0.90261	-2.64;-2.64	5.52	4.65	0.58169	.	0.038284	0.85682	N	0.000000	D	0.95130	0.8422	M	0.83603	2.65	0.80722	D	1	P	0.45986	0.87	D	0.63877	0.919	D	0.95488	0.8566	10	0.72032	D	0.01	-11.1982	14.5004	0.67716	0.0713:0.0:0.9287:0.0	.	77	Q9H0N5	PHS2_HUMAN	I	77	ENSP00000254908:M77I;ENSP00000421544:M77I	ENSP00000254908:M77I	M	+	3	0	PCBD2	134322643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.773000	0.98989	1.329000	0.45376	-0.157000	0.13467	ATG		0.413	PCBD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371578.1	NM_032151		T	134294744	G	T	134294744	3	4	184	1	0	0	0	0	1	0	0	0	11501	1377	48	4	241	4	PCBD2	5	134294744	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	2751179	134294744	46620516	20	11525											
PLAC8L1	153770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145477733	145477733	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr5:145477733C>T	ENST00000311450.4	-	2	299	c.242G>A	c.(241-243)aGa>aAa	p.R81K	RP11-118M9.3_ENST00000514002.1_RNA	NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	81								p.R81K(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCCTATCTCTGCAGACACT	0.498																																																1	Substitution - Missense(1)	kidney(1)											54	59	57					5																	145477733		2203	4300	6503	SO:0001583	missense	153770				CCDS34264.1	5q32	2008-02-05			ENSG00000173261	ENSG00000173261			31746	protein-coding gene	gene with protein product							Standard	XM_005268381		Approved		uc003lnv.3	A1L4L8	OTTHUMG00000163418	ENST00000311450.4:c.242G>A	5.37:g.145477733C>T	ENSP00000309087:p.Arg81Lys			Missense_Mutation	SNP	ENST00000311450.4	37	CCDS34264.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749755	0.69533	.	.	ENSG00000173261	ENST00000311450	T	0.40756	1.02	4.7	3.83	0.44106	.	0.112824	0.64402	D	0.000009	T	0.30039	0.0752	N	0.14661	0.345	0.27099	N	0.962659	P	0.38280	0.625	P	0.46110	0.504	T	0.14448	-1.0472	10	0.18710	T	0.47	-3.8924	9.0273	0.36239	0.0:0.8989:0.0:0.1011	.	81	A1L4L8	PL8L1_HUMAN	K	81	ENSP00000309087:R81K	ENSP00000309087:R81K	R	-	2	0	PLAC8L1	145457926	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.772000	0.38552	1.339000	0.45563	0.455000	0.32223	AGA		0.498	PLAC8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373290.1	XM_087761		T	145477733	C	T	145477733	3	4	184	1	0	0	0	0	1	0	0	0	12018	913	32	2	303	2	PLAC8L1	5	145477733	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08	11182989	145477733	35437527	21	11526											
BTNL3	10917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180420008	180420008	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr5:180420008G>A	ENST00000342868.6	+	2	429	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	82						integral component of membrane (GO:0016021)		p.R82Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CCACAGTATCGAGGGAGAACT	0.527																																																1	Substitution - Missense(1)	kidney(1)											71	68	69					5																	180420008		2074	3880	5954	SO:0001583	missense	10917			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.245G>A	5.37:g.180420008G>A	ENSP00000341787:p.Arg82Gln		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.285247	0.01398	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.64618	-0.11	2.96	-5.92	0.02261	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36552	0.0971	N	0.11892	0.195	0.09310	N	1	B	0.20671	0.047	B	0.09377	0.004	T	0.23368	-1.0190	9	0.19590	T	0.45	.	11.3884	0.49800	0.3797:0.0:0.6203:0.0	.	82	Q6UXE8	BTNL3_HUMAN	Q	82	ENSP00000341787:R82Q	ENSP00000341787:R82Q	R	+	2	0	BTNL3	180352614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.672000	0.01952	-1.499000	0.01821	-0.357000	0.07601	CGA		0.527	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		A	180420008	G	A	180420008	3	1	184	1	0	0	0	0	1	0	0	0	1568	1058	37	1	251	1	BTNL3	5	180420008	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	34942275	180420008	495252	22	11527											
FANCE	2178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35426171	35426171	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr6:35426171G>A	ENST00000229769.2	+	5	1252	c.1067G>A	c.(1066-1068)aGc>aAc	p.S356N		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	356	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S356N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CCTGATCTCAGCCTCAGCAAT	0.577			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"Fanconi anemia, complementation group E"		L	1	Substitution - Missense(1)	kidney(1)											177	167	171					6																	35426171		2203	4300	6503	SO:0001583	missense	2178	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"Fanconi anemia, complementation groups"	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.1067G>A	6.37:g.35426171G>A	ENSP00000229769:p.Ser356Asn		A8K907|Q4ZGH2	Missense_Mutation	SNP	ENST00000229769.2	37	CCDS4805.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263112	0.80358	.	.	ENSG00000112039	ENST00000229769	T	0.57436	0.4	5.41	5.41	0.78517	Fanconi Anaemia group E protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	M	0.76328	2.33	0.44485	D	0.997426	D	0.76494	0.999	D	0.79108	0.992	T	0.70687	-0.4803	10	0.87932	D	0	-14.2081	14.7023	0.69164	0.0:0.0:1.0:0.0	.	356	Q9HB96	FANCE_HUMAN	N	356	ENSP00000229769:S356N	ENSP00000229769:S356N	S	+	2	0	FANCE	35534149	1.000000	0.71417	0.392000	0.26245	0.977000	0.68977	5.664000	0.68045	2.537000	0.85549	0.561000	0.74099	AGC		0.577	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			A	35426171	G	A	35426171	3	1	184	1	0	0	0	0	1	0	0	0	5668	971	34	2	1085	2	FANCE	6	35426171	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08		35426171	135688896	23	11528											
MRPS18A	55168	broad.mit.edu	37	6	43655468	43655468	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr6:43655468C>A	ENST00000372133.3	-	1	60	c.49G>T	c.(49-51)Ggg>Tgg	p.G17W	MRPS18A_ENST00000372116.1_Missense_Mutation_p.G17W	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	17					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.G17W(2)		kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			GCTAGTAGCCCACGGAGAAGC	0.617																																																2	Substitution - Missense(2)	kidney(2)											16	15	15					6																	43655468		2193	4278	6471	SO:0001583	missense	55168			AB049952	CCDS4906.1, CCDS55006.1	6p21.3	2012-09-13			ENSG00000096080	ENSG00000096080		"Mitochondrial ribosomal proteins / small subunits"	14515	protein-coding gene	gene with protein product		611981				11279123, 11543634	Standard	NM_018135		Approved	FLJ10548, MRPS18-3	uc003ovy.2	Q9NVS2	OTTHUMG00000014750	ENST00000372133.3:c.49G>T	6.37:g.43655468C>A	ENSP00000361206:p.Gly17Trp		A6XND3|Q5QPA4	Missense_Mutation	SNP	ENST00000372133.3	37	CCDS4906.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786598	0.31593	.	.	ENSG00000096080	ENST00000372133;ENST00000372118;ENST00000372116;ENST00000427312	.	.	.	5.01	1.14	0.20703	.	1.003210	0.08037	N	0.994437	T	0.35624	0.0938	L	0.50919	1.6	0.09310	N	1	D;D;P;P	0.67145	0.996;0.995;0.947;0.947	P;D;B;B	0.64321	0.908;0.924;0.417;0.417	T	0.12785	-1.0534	9	0.66056	D	0.02	-3.1478	5.6411	0.17565	0.0:0.4946:0.3281:0.1773	.	17;17;17;17	Q5QPA5;Q9NVS2-2;Q5QPA4;Q9NVS2	.;.;.;RT18A_HUMAN	W	17	.	ENSP00000361188:G17W	G	-	1	0	MRPS18A	43763446	0.009000	0.17119	0.009000	0.14445	0.150000	0.21749	0.467000	0.22035	0.017000	0.15025	0.655000	0.94253	GGG		0.617	MRPS18A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040697.1	NM_018135		A	43655468	C	A	43655468	3	1	184	1	0	0	0	0	1	0	0	0	9830	594	21	4	565	4	MRPS18A	6	43655468	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08	8229297	43655468	127459599	24	11529											
HSP90AB1	3326	hgsc.bcm.edu;ucsc.edu	37	6	44219603	44219604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr6:44219603_44219604insC	ENST00000371554.1	+	9	1658_1659	c.1444_1445insC	c.(1444-1446)tccfs	p.S482fs	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Frame_Shift_Ins_p.S482fs|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000371646.5_Frame_Shift_Ins_p.S482fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	482					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACACAGAAGTCCATCTATTAC	0.505																																																0																																										SO:0001589	frameshift_variant	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1446dupC	6.37:g.44219605_44219605dupC	ENSP00000360609:p.Ser482fs		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Ins	INS	ENST00000371554.1	37	CCDS4909.1																																																																																				0.505	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		C	44219604	-	C	44219603	7	5	184	1	0	1	1	0	0	0	0	0	7404	1667	58	0	1474	0	HSP90AB1	6	44219603	Frame_Shift_Ins	INS	-	TCGA-B0-5099-01A-01D-1421-08	564135	44219603	126895464	25	11530											
GRM1	2911	hgsc.bcm.edu;ucsc.edu	37	6	146351323	146351324	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr6:146351323_146351324insA	ENST00000282753.1	+	1	905_906	c.670_671insA	c.(670-672)tggfs	p.W224fs	GRM1_ENST00000355289.4_Frame_Shift_Ins_p.W224fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.W224fs|GRM1_ENST00000392299.2_Frame_Shift_Ins_p.W224fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.W224fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.W224fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	224					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACGTTACAATTGGACCTATGTC	0.465																																																0																																										SO:0001589	frameshift_variant	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	Exception_encountered	6.37:g.146351323_146351324insA	ENSP00000282753:p.Trp224fs		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Del	INS	ENST00000282753.1	37	CCDS5209.1																																																																																				0.465	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		A	146351324	-	A	146351323	7	5	184	1	0	1	1	0	0	0	0	0	6798	1812	63	0	672	0	GRM1	6	146351323	Frame_Shift_Ins	INS	-	TCGA-B0-5099-01A-01D-1421-08	102131720	146351323	24763744	26	11531											
IGF2R	3482	broad.mit.edu;ucsc.edu	37	6	160526024	160526024	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr6:160526024delG	ENST00000356956.1	+	48	7532	c.7384delG	c.(7384-7386)gggfs	p.G2462fs	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2462					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GGCGAGGAAAGGGAAGTCCAG	0.592																																																0													97	81	87					6																	160526024		2203	4300	6503	SO:0001589	frameshift_variant	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.7384delG	6.37:g.160526024delG	ENSP00000349437:p.Gly2462fs		Q7Z7G9|Q96PT5	Frame_Shift_Del	DEL	ENST00000356956.1	37	CCDS5273.1																																																																																				0.592	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		-	160526024	G	-	160526024	7	5	184	1	0	1	0	1	0	0	0	0	7578	1000	35	0	7574	0	IGF2R	6	160526024	Frame_Shift_Del	DEL	G	TCGA-B0-5099-01A-01D-1421-08	14174701	160526024	10589043	27	11532											
TSGA14	95681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	130042593	130042593	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr7:130042593T>C	ENST00000223208.5	-	7	740	c.470A>G	c.(469-471)aAg>aGg	p.K157R	CEP41_ENST00000343969.5_Missense_Mutation_p.K157R|CEP41_ENST00000541543.1_Missense_Mutation_p.K141R	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	157					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)		p.K157R(1)									CTCTGCTTTCTTCACTGGCCC	0.478																																																1	Substitution - Missense(1)	kidney(1)											307	273	284					7																	130042593		2203	4300	6503	SO:0001583	missense	0			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.470A>G	7.37:g.130042593T>C	ENSP00000223208:p.Lys157Arg		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865553	0.71949	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282	D;D;D;D;D;D;D	0.89485	-2.52;-2.17;-2.48;-2.15;-2.15;-2.17;-1.72	5.96	5.96	0.96718	Rhodanese-like (2);	0.182774	0.64402	D	0.000017	D	0.91703	0.7377	M	0.72479	2.2	0.49389	D	0.99978	D;B;B	0.60575	0.988;0.2;0.126	P;B;B	0.53861	0.736;0.047;0.032	D	0.91066	0.4889	10	0.38643	T	0.18	-25.1502	15.2725	0.73717	0.0:0.0:0.0:1.0	.	141;157;157	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	R	157;141;157;122;122;154;122	ENSP00000223208:K157R;ENSP00000445888:K141R;ENSP00000342738:K157R;ENSP00000419192:K122R;ENSP00000417593:K122R;ENSP00000420670:K154R;ENSP00000418363:K122R	ENSP00000223208:K157R	K	-	2	0	TSGA14	129829829	0.999000	0.42202	1.000000	0.80357	0.576000	0.36127	1.551000	0.36233	2.285000	0.76669	0.533000	0.62120	AAG		0.478	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		C	130042593	T	C	130042593	3	2	184	1	0	0	0	0	1	0	0	0	16625	1609	56	3	671	3	TSGA14	7	130042593	Missense_Mutation	SNP	T	TCGA-B0-5099-01A-01D-1421-08		130042593	29096070	28	11533											
MLL3	58508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151877175	151877175	+	Nonsense_Mutation	SNP	G	G	A	rs535169721		TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr7:151877175G>A	ENST00000262189.6	-	37	7404	c.7186C>T	c.(7186-7188)Cag>Tag	p.Q2396*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2396*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2396					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q2396*(2)									TTCTTCTGCTGTTGCTGCTGG	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18519	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Nonsense(2)	kidney(2)											222	199	207					7																	151877175		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7186C>T	7.37:g.151877175G>A	ENSP00000262189:p.Gln2396*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	50	16.140017	0.99855	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.5	4.62	0.57501	.	0.000000	0.44285	D	0.000472	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	14.2468	0.65993	0.0717:0.0:0.9283:0.0	.	.	.	.	X	2396	.	ENSP00000262189:Q2396X	Q	-	1	0	MLL3	151508108	1.000000	0.71417	0.959000	0.39883	0.990000	0.78478	8.891000	0.92485	1.325000	0.45301	0.650000	0.86243	CAG		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151877175	G	A	151877175	4	1	184	1	0	0	0	0	0	1	0	0	9624	1386	48	2	7641	2	MLL3	7	151877175	Nonsense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	21834582	151877175	7261488	29	11534											
INTS10	55174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	19687916	19687916	+	Splice_Site	SNP	G	G	C			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr8:19687916G>C	ENST00000397977.3	+	10	1538		c.e10-1			NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10						snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.?(1)		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)		TCTTTAAGCAGAGTTCAGACG	0.363																																																1	Unknown(1)	kidney(1)											62	57	58					8																	19687916		1832	4098	5930	SO:0001630	splice_region_variant	55174			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.1141-1G>C	8.37:g.19687916G>C			Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Splice_Site	SNP	ENST00000397977.3	37	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448893	0.63178	.	.	ENSG00000104613	ENST00000397977;ENST00000523846	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9858	0.92769	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INTS10	19732196	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	9.242000	0.95408	2.832000	0.97577	0.655000	0.94253	.		0.363	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142	Intron	C	19687916	G	C	19687916	5	2	184	1	0	0	0	0	0	0	1	0	7778	956	33	4	1178	4	INTS10	8	19687916	Splice_Site	SNP	G	TCGA-B0-5099-01A-01D-1421-08		19687916	126676106	30	11535											
PURG	29942	hgsc.bcm.edu;ucsc.edu	37	8	30889951	30889958	+	Frame_Shift_Del	DEL	CTTCAGCT	CTTCAGCT	-			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	CTTCAGCT	CTTCAGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr8:30889951_30889958delCTTCAGCT	ENST00000475541.1	-	1	1273_1280	c.341_348delAGCTGAAG	c.(340-348)gagctgaagfs	p.ELK114fs	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Frame_Shift_Del_p.ELK114fs	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	114						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CTAGACAGTCCTTCAGCTCCGCTGCCAC	0.587																																																0																																										SO:0001589	frameshift_variant	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.341_348delAGCTGAAG	8.37:g.30889951_30889958delCTTCAGCT	ENSP00000418721:p.Glu114fs		Q8TE64	Frame_Shift_Del	DEL	ENST00000475541.1	37	CCDS6081.1																																																																																				0.587	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		-	30889958	CTTCAGCT	-	30889951	7	5	184	1	0	1	0	1	0	0	0	0	12835	680	24	0	808	0	PURG	8	30889951	Frame_Shift_Del	DEL	CTTCAGCT	TCGA-B0-5099-01A-01D-1421-08	11202035	30889951	115474071	31	11536											
MYST3	7994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	41836218	41836218	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr8:41836218G>A	ENST00000396930.3	-	7	1528	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	KAT6A_ENST00000265713.2_Missense_Mutation_p.R329W|KAT6A_ENST00000406337.1_Missense_Mutation_p.R329W|KAT6A_ENST00000485568.1_Missense_Mutation_p.R329W	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	329	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R329W(1)									GTATAGCGCCGTTTTATCTGT	0.383																																																1	Substitution - Missense(1)	kidney(1)											301	293	296					8																	41836218		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.985C>T	8.37:g.41836218G>A	ENSP00000380136:p.Arg329Trp		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417848	0.42918	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.85556	0.02;0.02;0.02;-2.0	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000003	D	0.91047	0.7183	M	0.64997	1.995	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91611	0.5303	10	0.72032	D	0.01	-20.936	15.7483	0.77965	0.0:0.0:0.8632:0.1368	.	329;329	A5PLL3;Q92794	.;KAT6A_HUMAN	W	329	ENSP00000265713:R329W;ENSP00000385888:R329W;ENSP00000380136:R329W;ENSP00000430606:R329W	ENSP00000265713:R329W	R	-	1	2	KAT6A	41955375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.195000	0.65131	2.572000	0.86782	0.644000	0.83932	CGG		0.383	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		A	41836218	G	A	41836218	3	1	184	1	0	0	0	0	1	0	0	0	10106	1144	40	1	5077	1	MYST3	8	41836218	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	10946267	41836218	104527804	32	11537											
ACO1	48	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32408576	32408576	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr9:32408576C>A	ENST00000309951.6	+	4	469	c.331C>A	c.(331-333)Cca>Aca	p.P111T	ACO1_ENST00000379923.1_Missense_Mutation_p.P111T|ACO1_ENST00000541043.1_Missense_Mutation_p.P12T	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	111					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.P111T(2)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGGAGGAGATCCAGAGAAAAT	0.428																																																2	Substitution - Missense(2)	kidney(2)											167	159	162					9																	32408576		2203	4300	6503	SO:0001583	missense	48			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.331C>A	9.37:g.32408576C>A	ENSP00000309477:p.Pro111Thr		D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072872	0.93950	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.20200	2.09;2.09;2.09	5.75	5.75	0.90469	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.096427	0.64402	D	0.000001	T	0.52901	0.1763	M	0.86953	2.85	0.80722	D	1	D	0.63880	0.993	D	0.70487	0.969	T	0.52801	-0.8527	10	0.38643	T	0.18	-14.7119	18.7222	0.91700	0.0:1.0:0.0:0.0	.	111	P21399	ACOC_HUMAN	T	147;111;111;111;12	ENSP00000309477:P111T;ENSP00000369255:P111T;ENSP00000438733:P12T	ENSP00000309477:P111T	P	+	1	0	ACO1	32398576	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.772000	0.85439	2.705000	0.92388	0.655000	0.94253	CCA		0.428	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		A	32408576	C	A	32408576	3	1	184	1	0	0	0	0	1	0	0	0	146	855	30	4	341	4	ACO1	9	32408576	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08		32408576	108804855	33	11538											
TAF1L	138474	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32630843	32630844	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr9:32630843_32630844GC>TG	ENST00000242310.4	-	1	4823_4824	c.4734_4735GC>CA	c.(4732-4737)aaGCac>aaCAac	p.1578_1579KH>NN	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1578	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.K1578N(1)|p.H1579N(1)|p.K1578_H1579>NN(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGATACTTGTGCTTGGAGATGT	0.386																																																3	Substitution - Missense(2)|Complex - compound substitution(1)	kidney(3)																																								SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4734_4735delinsTG	9.37:g.32630843_32630844delinsTG	ENSP00000418379:p.K1578_H1579delinsNN		Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																				0.386	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			TG	32630844	GC	TG	32630843	3	4	184	1	0	0	0	0	1	0	0	0	15528	1319	46	4	749	4	TAF1L	9	32630843	Missense_Mutation	DNP	GC	TCGA-B0-5099-01A-01D-1421-08	222267	32630843	108582588	34	11539											
GCNT1	2650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79117316	79117316	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr9:79117316C>T	ENST00000376730.4	+	4	502	c.19C>T	c.(19-21)Cga>Tga	p.R7*	GCNT1_ENST00000488136.1_3'UTR|GCNT1_ENST00000442371.1_Nonsense_Mutation_p.R7*|GCNT1_ENST00000536223.1_Nonsense_Mutation_p.R7*|GCNT1_ENST00000444201.2_Nonsense_Mutation_p.R7*	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	7	Mediates interaction with GOLPH3 and is necessary and sufficent for localization to the Golgi.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.R7*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GACGTTGCTGCGAAGGAGACT	0.418																																																1	Substitution - Nonsense(1)	kidney(1)											92	93	92					9																	79117316		2203	4300	6503	SO:0001587	stop_gained	2650			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.19C>T	9.37:g.79117316C>T	ENSP00000365920:p.Arg7*		Q6DJZ4	Nonsense_Mutation	SNP	ENST00000376730.4	37	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	c	11.19	1.565901	0.27915	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	.	.	.	5.21	-0.443	0.12249	.	0.581648	0.16726	N	0.202059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	4.5779	0.12243	0.5049:0.3155:0.0:0.1796	.	.	.	.	X	7	.	ENSP00000365920:R7X	R	+	1	2	GCNT1	78307136	0.162000	0.22906	0.037000	0.18230	0.066000	0.16364	-0.002000	0.12924	0.051000	0.15978	-0.145000	0.13849	CGA		0.418	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		T	79117316	C	T	79117316	4	4	184	1	0	0	0	0	0	1	0	0	6302	760	27	1	21	1	GCNT1	9	79117316	Nonsense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08	46486473	79117316	62096115	35	11540											
ECM2	1842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95272275	95272275	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr9:95272275A>C	ENST00000344604.5	-	6	1361	c.1212T>G	c.(1210-1212)aaT>aaG	p.N404K	ECM2_ENST00000444490.2_Missense_Mutation_p.N382K|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	404					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.N404K(1)|p.N382K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCTGTATCAAATTATTTCCAT	0.323																																																2	Substitution - Missense(2)	kidney(2)											84	83	83					9																	95272275		2201	4298	6499	SO:0001583	missense	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1212T>G	9.37:g.95272275A>C	ENSP00000344758:p.Asn404Lys		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	A	4.127	0.021765	0.08006	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.56776	0.44;0.44	4.48	-2.69	0.06022	.	0.765588	0.12578	N	0.456641	T	0.24547	0.0595	N	0.19112	0.55	0.25411	N	0.988357	B;B;B	0.13594	0.001;0.008;0.001	B;B;B	0.14023	0.002;0.01;0.007	T	0.19353	-1.0308	10	0.12430	T	0.62	.	0.0243	0.00004	0.2773:0.2197:0.2153:0.2877	.	404;382;382	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	K	382;404	ENSP00000393971:N382K;ENSP00000344758:N404K	ENSP00000344758:N404K	N	-	3	2	ECM2	94312096	0.994000	0.37717	0.097000	0.21041	0.918000	0.54935	0.505000	0.22642	-0.585000	0.05905	0.460000	0.39030	AAT		0.323	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		C	95272275	A	C	95272275	3	2	184	1	0	0	0	0	1	0	0	0	4900	98	4	5	907	5	ECM2	9	95272275	Missense_Mutation	SNP	A	TCGA-B0-5099-01A-01D-1421-08	16154959	95272275	45941156	36	11541											
RNF20	56254	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104316360	104316360	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr9:104316360G>T	ENST00000389120.3	+	14	2082	c.1992G>T	c.(1990-1992)atG>atT	p.M664I		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	664					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M664I(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTCAGCTGATGGCAGCTGAGA	0.438																																																1	Substitution - Missense(1)	kidney(1)											146	122	130					9																	104316360		2203	4300	6503	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1992G>T	9.37:g.104316360G>T	ENSP00000373772:p.Met664Ile		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182650	0.94885	.	.	ENSG00000155827	ENST00000389120	T	0.33654	1.4	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	M	0.75085	2.285	0.80722	D	1	P	0.46395	0.877	P	0.50440	0.641	T	0.45366	-0.9266	10	0.37606	T	0.19	-26.6788	20.1963	0.98243	0.0:0.0:1.0:0.0	.	664	Q5VTR2	BRE1A_HUMAN	I	664	ENSP00000373772:M664I	ENSP00000373772:M664I	M	+	3	0	RNF20	103356181	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.444000	0.97578	2.878000	0.98634	0.650000	0.86243	ATG		0.438	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		T	104316360	G	T	104316360	3	4	184	1	0	0	0	0	1	0	0	0	13479	1348	47	4	2042	4	RNF20	9	104316360	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	9044085	104316360	36897071	37	11542											
ERCC6	2074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	50690813	50690813	+	Silent	SNP	A	A	G			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr10:50690813A>G	ENST00000355832.5	-	10	2167	c.2089T>C	c.(2089-2091)Tta>Cta	p.L697L	ERCC6_ENST00000542458.1_Silent_p.L67L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	697					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.L697L(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACGTGCCTAACTTTCCCGGG	0.483								Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - coding silent(1)	kidney(1)											106	97	100					10																	50690813		2203	4300	6503	SO:0001819	synonymous_variant	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2089T>C	10.37:g.50690813A>G			D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	CCDS7229.1																																																																																				0.483	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		G	50690813	A	G	50690813	2	3	184	1	0	0	0	0	0	0	0	1	5219	40	2	3		3	ERCC6	10	50690813	Silent	SNP	A	TCGA-B0-5099-01A-01D-1421-08		50690813	84843934	38	11543											
SLC15A3	51296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60709539	60709539	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr11:60709539C>T	ENST00000227880.3	-	4	1308	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	359					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.V359M(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CTCAGGGCCACAGAGATGTTG	0.572																																																1	Substitution - Missense(1)	kidney(1)											178	175	176					11																	60709539		2203	4299	6502	SO:0001583	missense	51296			AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1075G>A	11.37:g.60709539C>T	ENSP00000227880:p.Val359Met		Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	c	4.354	0.065219	0.08388	.	.	ENSG00000110446	ENST00000227880;ENST00000536491	T;T	0.05139	3.49;3.49	4.39	-8.78	0.00824	Major facilitator superfamily domain, general substrate transporter (1);	4.059570	0.00424	N	0.000062	T	0.04363	0.0120	L	0.31664	0.95	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.23261	-1.0193	10	0.38643	T	0.18	0.3729	3.6597	0.08234	0.2707:0.4279:0.0792:0.2221	.	359;359	F5H1C8;Q8IY34	.;S15A3_HUMAN	M	359;172	ENSP00000227880:V359M;ENSP00000439535:V172M	ENSP00000227880:V359M	V	-	1	0	SLC15A3	60466115	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.154000	0.00580	-3.138000	0.00234	-1.439000	0.01073	GTG		0.572	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		T	60709539	C	T	60709539	3	4	184	1	0	0	0	0	1	0	0	0	14406	478	17	2	690	2	SLC15A3	11	60709539	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08		60709539	74296977	39	11544											
HSPA8	3312	broad.mit.edu;hgsc.bcm.edu	37	11	122930262	122930262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr11:122930262G>A	ENST00000532636.1	-	5	1158	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Nonsense_Mutation_p.Q347*|HSPA8_ENST00000533540.1_Nonsense_Mutation_p.Q201*|HSPA8_ENST00000227378.3_Nonsense_Mutation_p.Q347*|HSPA8_ENST00000534319.1_Nonsense_Mutation_p.Q111*|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Nonsense_Mutation_p.Q328*|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Nonsense_Mutation_p.Q347*|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	347	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.Q347*(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGAAGCTTCTGAATCTTGGGG	0.438																																					Colon(21;486 594 5900 6733 14272)											1	Substitution - Nonsense(1)	kidney(1)											83	84	84					11																	122930262		2202	4299	6501	SO:0001587	stop_gained	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1039C>T	11.37:g.122930262G>A	ENSP00000437125:p.Gln347*		Q9H3R6	Nonsense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	G	40	8.123914	0.98665	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.3736	17.9506	0.89052	0.0:0.0:1.0:0.0	.	.	.	.	X	347;201;347;347;347;111;328;287	.	ENSP00000227378:Q347X	Q	-	1	0	HSPA8	122435472	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.693000	0.98684	2.308000	0.77769	0.556000	0.70494	CAG		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			A	122930262	G	A	122930262	4	1	184	1	0	0	0	0	0	1	0	0	7418	1299	45	2	921	2	HSPA8	11	122930262	Nonsense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	62220723	122930262	12076254	40	11545	88	2									
HSPA8	3312	broad.mit.edu;hgsc.bcm.edu	37	11	122930264	122930264	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr11:122930264A>T	ENST00000532636.1	-	5	1156	c.1037T>A	c.(1036-1038)aTt>aAt	p.I346N	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.I346N|HSPA8_ENST00000533540.1_Missense_Mutation_p.I200N|HSPA8_ENST00000227378.3_Missense_Mutation_p.I346N|HSPA8_ENST00000534319.1_Missense_Mutation_p.I110N|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.I327N|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.I346N|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	346	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.I346N(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGCTTCTGAATCTTGGGGAT	0.443																																					Colon(21;486 594 5900 6733 14272)											1	Substitution - Missense(1)	kidney(1)											83	83	83					11																	122930264		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1037T>A	11.37:g.122930264A>T	ENSP00000437125:p.Ile346Asn		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691568	0.88735	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01240	5.12;5.12;5.12;5.12;5.12;5.12;5.12;5.12	4.65	4.65	0.58169	Heat shock protein 70, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.15782	0.0380	H	0.98701	4.305	0.80722	D	1	D;D;P;D	0.62365	0.991;0.964;0.955;0.991	D;P;P;D	0.63192	0.912;0.71;0.462;0.912	T	0.30563	-0.9974	10	0.87932	D	0	-18.1205	14.4185	0.67168	1.0:0.0:0.0:0.0	.	346;346;346;346	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	N	346;200;346;346;346;110;327;286	ENSP00000437125:I346N;ENSP00000437189:I200N;ENSP00000432083:I346N;ENSP00000404372:I346N;ENSP00000227378:I346N;ENSP00000433316:I110N;ENSP00000433584:I327N;ENSP00000432884:I286N	ENSP00000227378:I346N	I	-	2	0	HSPA8	122435474	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.174000	0.94824	1.871000	0.54225	0.454000	0.30748	ATT		0.443	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			T	122930264	A	T	122930264	3	4	184	1	0	0	0	0	1	0	0	0	7418	101	4	5	923	5	HSPA8	11	122930264	Missense_Mutation	SNP	A	TCGA-B0-5099-01A-01D-1421-08	2	122930264	12076252	41	11546	88	2									
TMEM45B	120224	broad.mit.edu;hgsc.bcm.edu	37	11	129728494	129728494	+	Missense_Mutation	SNP	G	G	A	rs563776197		TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr11:129728494G>A	ENST00000524567.1	+	6	1023	c.742G>A	c.(742-744)Gga>Aga	p.G248R	TMEM45B_ENST00000281441.3_Missense_Mutation_p.G248R			Q96B21	TM45B_HUMAN	transmembrane protein 45B	248						integral component of membrane (GO:0016021)		p.G248R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GAAGAGACACGGAAGGGGAGA	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18620	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											51	52	51					11																	129728494		2201	4297	6498	SO:0001583	missense	120224			AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.742G>A	11.37:g.129728494G>A	ENSP00000436293:p.Gly248Arg		A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	G	6.147	0.395299	0.11638	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.29397	1.57;1.57	5.53	1.89	0.25635	.	3.982800	0.00166	N	0.000007	T	0.16854	0.0405	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.21518	-1.0243	10	0.16896	T	0.51	-19.7194	1.5134	0.02500	0.2253:0.168:0.436:0.1707	.	248	Q96B21	TM45B_HUMAN	R	248	ENSP00000281441:G248R;ENSP00000436293:G248R	ENSP00000281441:G248R	G	+	1	0	TMEM45B	129233704	0.000000	0.05858	0.005000	0.12908	0.243000	0.25628	0.211000	0.17474	1.191000	0.43056	0.591000	0.81541	GGA		0.458	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		A	129728494	G	A	129728494	3	1	184	1	0	0	0	0	1	0	0	0	16175	1117	39	1	760	1	TMEM45B	11	129728494	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	6798230	129728494	5278022	42	11547											
A2M	2	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9248168	9248168	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr12:9248168A>T	ENST00000318602.7	-	16	2287	c.1980T>A	c.(1978-1980)agT>agA	p.S660R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	660					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.S660R(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTTCATTTGTACTTGATACTG	0.378																																																1	Substitution - Missense(1)	kidney(1)											129	128	128					12																	9248168		1872	4105	5977	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1980T>A	12.37:g.9248168A>T	ENSP00000323929:p.Ser660Arg		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	A	9.148	1.015572	0.19355	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.29655	1.56	5.65	-1.21	0.09524	.	0.498207	0.21393	N	0.075274	T	0.14787	0.0357	L	0.34521	1.04	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.17228	-1.0376	10	0.15066	T	0.55	.	2.2815	0.04115	0.4108:0.1245:0.3424:0.1223	.	660	P01023	A2MG_HUMAN	R	660;675	ENSP00000323929:S660R	ENSP00000323929:S660R	S	-	3	2	A2M	9139435	0.000000	0.05858	0.009000	0.14445	0.008000	0.06430	0.011000	0.13264	-0.056000	0.13221	0.528000	0.53228	AGT		0.378	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		T	9248168	A	T	9248168	3	4	184	1	0	0	0	0	1	0	0	0	4	388	14	5	2528	5	A2M	12	9248168	Missense_Mutation	SNP	A	TCGA-B0-5099-01A-01D-1421-08		9248168	124603727	43	11548											
NAV3	89795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	78400974	78400974	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr12:78400974G>T	ENST00000397909.2	+	8	1829	c.1656G>T	c.(1654-1656)gaG>gaT	p.E552D	NAV3_ENST00000228327.6_Missense_Mutation_p.E552D|NAV3_ENST00000536525.2_Missense_Mutation_p.E552D|NAV3_ENST00000266692.7_Missense_Mutation_p.E552D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	552						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.E552D(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAGTCTGAGAAATTCAGGA	0.468										HNSCC(70;0.22)																																						1	Substitution - Missense(1)	kidney(1)											69	69	69					12																	78400974		1895	4116	6011	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1656G>T	12.37:g.78400974G>T	ENSP00000381007:p.Glu552Asp		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	11.54	1.670053	0.29693	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.29	-1.44	0.08856	.	0.000000	0.40222	U	0.001152	T	0.12092	0.0294	L	0.56769	1.78	0.80722	D	1	B;B	0.32101	0.0;0.356	B;B	0.33454	0.001;0.164	T	0.05419	-1.0886	10	0.48119	T	0.1	-12.9977	7.0584	0.25111	0.5289:0.1255:0.3456:0.0	.	552;552	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	D	552	ENSP00000446628:E552D;ENSP00000446132:E552D;ENSP00000381007:E552D;ENSP00000228327:E552D;ENSP00000266692:E552D	ENSP00000228327:E552D	E	+	3	2	NAV3	76925105	0.996000	0.38824	0.952000	0.39060	0.961000	0.63080	0.643000	0.24750	-0.487000	0.06735	-1.000000	0.02509	GAG		0.468	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		T	78400974	G	T	78400974	3	4	184	1	0	0	0	0	1	0	0	0	10187	933	33	4	1686	4	NAV3	12	78400974	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	69152806	78400974	55450921	44	11549											
DHX37	57647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	125462030	125462030	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr12:125462030G>A	ENST00000308736.2	-	5	843	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	DHX37_ENST00000544745.1_Missense_Mutation_p.R36W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	249							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R249W(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGCTTCAGCCGTTCCTCCTGG	0.562																																																1	Substitution - Missense(1)	kidney(1)											53	46	49					12																	125462030		2203	4300	6503	SO:0001583	missense	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.745C>T	12.37:g.125462030G>A	ENSP00000311135:p.Arg249Trp		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286896	0.40494	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.15487	2.42;2.42	5.06	4.16	0.48862	.	0.055152	0.64402	D	0.000001	T	0.29620	0.0739	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02829	-1.1105	10	0.87932	D	0	-19.5566	11.9651	0.53029	0.0:0.0:0.5269:0.4731	.	249	Q8IY37	DHX37_HUMAN	W	249;36	ENSP00000311135:R249W;ENSP00000439009:R36W	ENSP00000311135:R249W	R	-	1	2	DHX37	124027983	1.000000	0.71417	0.962000	0.40283	0.030000	0.12068	4.505000	0.60421	1.123000	0.41961	0.591000	0.81541	CGG		0.562	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		A	125462030	G	A	125462030	3	1	184	1	0	0	0	0	1	0	0	0	4512	1144	40	1	2820	1	DHX37	12	125462030	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	47061056	125462030	8389865	45	11550											
GPR180	160897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95271760	95271762	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	GTT	GTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr13:95271760_95271762delGTT	ENST00000376958.4	+	5	750_752	c.725_727delGTT	c.(724-729)agtttg>atg	p.242_243SL>M		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	242					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TTTATGGGAAGTTTGGCAGAATG	0.305																																																0																																										SO:0001651	inframe_deletion	160897			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"intimal thickness related receptor"	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.725_727delGTT	13.37:g.95271760_95271762delGTT	ENSP00000366157:p.Ser242_Leu243delinsMet		A8K1D5	In_Frame_Del	DEL	ENST00000376958.4	37	CCDS9472.1																																																																																				0.305	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		-	95271762	GTT	-	95271760	7	5	184	1	0	1	0	1	0	0	0	0	6678	1029	36	0	743	0	GPR180	13	95271760	In_Frame_Del	DEL	GTT	TCGA-B0-5099-01A-01D-1421-08		95271760	19898118	46	11551											
IRF9	10379	broad.mit.edu;hgsc.bcm.edu	37	14	24635394	24635394	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr14:24635394T>C	ENST00000396864.3	+	9	1458	c.1171T>C	c.(1171-1173)Tcc>Ccc	p.S391P	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.V331A	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	391					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S391P(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGCCATTCTGTCCCTGGTGTA	0.532																																																1	Substitution - Missense(1)	kidney(1)											63	64	64					14																	24635394		2203	4300	6503	SO:0001583	missense	10379			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.1171T>C	14.37:g.24635394T>C	ENSP00000380073:p.Ser391Pro		D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	T	9.653	1.142141	0.21205	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.99023	-4.31;-5.34	4.65	-0.787	0.10943	.	0.660445	0.12025	U	0.506489	D	0.96589	0.8887	L	0.56769	1.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.91802	0.5452	10	0.87932	D	0	-3.5031	0.8634	0.01198	0.1546:0.2638:0.1604:0.4212	.	391	Q00978	IRF9_HUMAN	P	391;207	ENSP00000380073:S391P;ENSP00000313529:S207P	ENSP00000313529:S207P	S	+	1	0	IRF9	23705234	0.011000	0.17503	0.006000	0.13384	0.108000	0.19459	-0.541000	0.06099	-0.194000	0.10399	0.459000	0.35465	TCC		0.532	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			C	24635394	T	C	24635394	3	2	184	1	0	0	0	0	1	0	0	0	7839	1667	58	3	1201	3	IRF9	14	24635394	Missense_Mutation	SNP	T	TCGA-B0-5099-01A-01D-1421-08		24635394	82714146	47	11552											
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu	37	14	105414746	105414746	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr14:105414746C>T	ENST00000333244.5	-	7	7161	c.7042G>A	c.(7042-7044)Gtg>Atg	p.V2348M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2348						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.V2348M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCCTCCACCTTCAACGCA	0.602																																																1	Substitution - Missense(1)	kidney(1)											150	167	161					14																	105414746		2057	4195	6252	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7042G>A	14.37:g.105414746C>T	ENSP00000353114:p.Val2348Met		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	11.32	1.604947	0.28623	.	.	ENSG00000185567	ENST00000333244	T	0.00995	5.46	3.12	1.13	0.20643	.	.	.	.	.	T	0.02119	0.0066	L	0.55743	1.74	0.09310	N	1	P	0.44946	0.846	P	0.55455	0.776	T	0.47623	-0.9103	9	0.33141	T	0.24	.	4.2239	0.10572	0.0:0.5808:0.1922:0.227	.	2348	Q8IVF2	AHNK2_HUMAN	M	2348	ENSP00000353114:V2348M	ENSP00000353114:V2348M	V	-	1	0	AHNAK2	104485791	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.557000	0.02166	0.038000	0.15604	0.485000	0.47835	GTG		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105414746	C	T	105414746	3	4	184	1	0	0	0	0	1	0	0	0	415	507	18	2	10349	2	AHNAK2	14	105414746	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08	80779352	105414746	1934794	48	11553											
THBS1	7057	broad.mit.edu;hgsc.bcm.edu	37	15	39882824	39882824	+	Splice_Site	SNP	G	G	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr15:39882824G>T	ENST00000260356.5	+	14	2418	c.2253G>T	c.(2251-2253)agG>agT	p.R751S	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	751					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.?(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CAGATGACAGGGTAAAAACAG	0.403																																																1	Unknown(1)	kidney(1)											115	111	112					15																	39882824		2200	4297	6497	SO:0001630	splice_region_variant	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2253+1G>T	15.37:g.39882824G>T			A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029059	0.93518	.	.	ENSG00000137801	ENST00000260356	D	0.98207	-4.79	5.99	5.99	0.97316	.	0.000000	0.38217	N	0.001763	D	0.97926	0.9318	L	0.44542	1.39	0.80722	D	1	P;D	0.57571	0.629;0.98	B;P	0.57846	0.439;0.828	D	0.97201	0.9864	10	0.29301	T	0.29	-8.004	19.0269	0.92935	0.0:0.0:1.0:0.0	.	666;751	B4E3J7;P07996	.;TSP1_HUMAN	S	751	ENSP00000260356:R751S	ENSP00000260356:R751S	R	+	3	2	THBS1	37670116	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.770000	0.74990	2.843000	0.97960	0.655000	0.94253	AGG		0.403	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	Missense_Mutation	T	39882824	G	T	39882824	5	4	184	1	0	0	0	0	0	0	1	0	15858	1246	43	4	2303	4	THBS1	15	39882824	Splice_Site	SNP	G	TCGA-B0-5099-01A-01D-1421-08		39882824	62648568	49	11554											
SECISBP2L	9728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49284863	49284864	+	Missense_Mutation	DNP	CA	CA	TC			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C|A	C|A	C|A	T|C	C|A	C|A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr15:49284863_49284864CA>TC	ENST00000559471.1	-	18	3146_3147	c.2883_2884TG>GA	c.(2881-2886)acTGgc>acGAgc	p.G962S	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.G917S	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	962							poly(A) RNA binding (GO:0044822)	p.G917S(2)|p.T916T(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCCAAAGAGCCAGTCTCTGTAC	0.49																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2883_2884delinsTC	15.37:g.49284863_49284864delinsTC	ENSP00000453854:p.Gly962Ser		Q8N767	Missense_Mutation|Silent	SNP	ENST00000559471.1	37	CCDS53942.1																																																																																				0.49	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		TC	49284864	CA	TC	49284863	3	4	184	1	0	0	0	0	1	0	0	0	14013	594	21	2	425	2	SECISBP2L	15	49284863	Missense_Mutation	DNP	CA	TCGA-B0-5099-01A-01D-1421-08	9402039	49284863	53246529	50	11555											
NEO1	4756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	73575304	73575304	+	Splice_Site	SNP	G	G	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr15:73575304G>A	ENST00000339362.5	+	24	3709		c.e24-1		NEO1_ENST00000261908.6_Splice_Site|NEO1_ENST00000560262.1_Splice_Site|NEO1_ENST00000558964.1_Splice_Site			Q92859	NEO1_HUMAN	neogenin 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCTCTCTGCAGGCAGTAACAG	0.438																																																1	Unknown(1)	kidney(1)											324	332	330					15																	73575304		2198	4297	6495	SO:0001630	splice_region_variant	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3263-1G>A	15.37:g.73575304G>A			B7ZKM9|B7ZKN0|O00340|Q17RX1	Splice_Site	SNP	ENST00000339362.5	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639450	0.67244	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.333	0.94299	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEO1	71362357	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	7.761000	0.85260	2.644000	0.89710	0.655000	0.94253	.		0.438	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	Intron	A	73575304	G	A	73575304	5	1	184	1	0	0	0	0	0	0	1	0	10338	1014	35	2	3352	2	NEO1	15	73575304	Splice_Site	SNP	G	TCGA-B0-5099-01A-01D-1421-08	24290441	73575304	28956088	51	11556											
CNOT1	23019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58572759	58572763	+	Frame_Shift_Del	DEL	GTAGC	GTAGC	-			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	GTAGC	GTAGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr16:58572759_58572763delGTAGC	ENST00000317147.5	-	36	5380_5384	c.5048_5052delGCTAC	c.(5047-5052)cgctacfs	p.RY1683fs	CNOT1_ENST00000569240.1_Frame_Shift_Del_p.RY1678fs|CNOT1_ENST00000245138.4_Frame_Shift_Del_p.RY534fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1683					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGCATTCCCTGTAGCGCAGCAGAAG	0.502																																																0																																										SO:0001589	frameshift_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5048_5052delGCTAC	16.37:g.58572759_58572763delGTAGC	ENSP00000320949:p.Arg1683fs		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	CCDS10799.1																																																																																				0.502	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		-	58572763	GTAGC	-	58572759	7	5	184	1	0	1	0	1	0	0	0	0	3619	1372	48	0	2134	0	CNOT1	16	58572759	Frame_Shift_Del	DEL	GTAGC	TCGA-B0-5099-01A-01D-1421-08		58572759	31781994	52	11557											
TOM1L2	146691	broad.mit.edu;ucsc.edu	37	17	17769632	17769632	+	Silent	SNP	G	G	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr17:17769632G>T	ENST00000379504.3	-	10	1145	c.1062C>A	c.(1060-1062)ctC>ctA	p.L354L	TOM1L2_ENST00000478943.1_Silent_p.L87L|TOM1L2_ENST00000318094.10_Silent_p.L309L|TOM1L2_ENST00000395739.4_Silent_p.L309L|TOM1L2_ENST00000542206.1_Silent_p.L206L|TOM1L2_ENST00000535933.1_Silent_p.L301L|TOM1L2_ENST00000581396.1_Silent_p.L304L|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000540946.1_Silent_p.L256L	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	354					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)	p.L354L(1)|p.L304L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GCTGGGAGGAGAGGGAAGATG	0.562																																					Melanoma(192;2505 2909 14455 25269)											2	Substitution - coding silent(2)	kidney(2)											69	59	62					17																	17769632		2203	4300	6503	SO:0001819	synonymous_variant	146691			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1062C>A	17.37:g.17769632G>T			B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	37	CCDS42270.1																																																																																				0.562	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			T	17769632	G	T	17769632	2	4	184	1	0	0	0	0	0	0	0	1	16358	929	33	4		4	TOM1L2	17	17769632	Silent	SNP	G	TCGA-B0-5099-01A-01D-1421-08		17769632	63425578	53	11558											
DHRS13	147015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27228249	27228249	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr17:27228249delA	ENST00000378895.4	-	4	567	c.441delT	c.(439-441)tttfs	p.F147fs	RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000581974.1_5'Flank|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000394901.3_Frame_Shift_Del_p.F97fs|DHRS13_ENST00000426464.2_Frame_Shift_Del_p.F66fs	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	147						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GTGTCAGCAGAAAGGGACCGA	0.602																																																0													90	88	89					17																	27228249		2203	4300	6503	SO:0001589	frameshift_variant	147015			BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	28326	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 5"					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.441delT	17.37:g.27228249delA	ENSP00000368173:p.Phe147fs		Q96BH7	Frame_Shift_Del	DEL	ENST00000378895.4	37	CCDS11246.2																																																																																				0.602	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		-	27228249	A	-	27228249	7	5	184	1	0	1	0	1	0	0	0	0	4491	243	9	0	700	0	DHRS13	17	27228249	Frame_Shift_Del	DEL	A	TCGA-B0-5099-01A-01D-1421-08	9458617	27228249	53966961	54	11559											
GOSR1	9527	broad.mit.edu;hgsc.bcm.edu	37	17	28846964	28846964	+	Missense_Mutation	SNP	A	A	G	rs540823264		TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr17:28846964A>G	ENST00000225724.5	+	8	625	c.553A>G	c.(553-555)Atg>Gtg	p.M185V	GOSR1_ENST00000451249.2_Missense_Mutation_p.M183V|GOSR1_ENST00000581721.1_Missense_Mutation_p.M171V|GOSR1_ENST00000467337.2_Missense_Mutation_p.M120V	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	185					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.M185V(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CAGCATTGCTATGGCAACAAA	0.383													A|||	1	0.000199681	0.0	0.0	5008	,	,		19519	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											154	156	156					17																	28846964		2203	4300	6503	SO:0001583	missense	9527			AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"golgi integral membrane protein 2"	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.553A>G	17.37:g.28846964A>G	ENSP00000225724:p.Met185Val		J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.170579	0.78452	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833	T;T	0.75260	-0.92;-0.92	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	M	0.78637	2.42	0.80722	D	1	P;P	0.37636	0.603;0.603	P;P	0.44673	0.457;0.457	T	0.75542	-0.3281	10	0.15952	T	0.53	-16.1039	15.8218	0.78654	1.0:0.0:0.0:0.0	.	185;183	O95249;E9PCW1	GOSR1_HUMAN;.	V	185;183;120	ENSP00000225724:M185V;ENSP00000414441:M183V	ENSP00000225724:M185V	M	+	1	0	GOSR1	25871090	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.535000	0.90623	2.326000	0.78906	0.533000	0.62120	ATG		0.383	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			G	28846964	A	G	28846964	3	3	184	1	0	0	0	0	1	0	0	0	6579	449	16	3	583	3	GOSR1	17	28846964	Missense_Mutation	SNP	A	TCGA-B0-5099-01A-01D-1421-08	1618715	28846964	52348246	55	11560											
AP2B1	163	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33932800	33932800	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr17:33932800A>T	ENST00000262325.7	+	4	773	c.220A>T	c.(220-222)Atg>Ttg	p.M74L	AP2B1_ENST00000592545.1_Missense_Mutation_p.M74L|AP2B1_ENST00000538556.1_Missense_Mutation_p.M17L|AP2B1_ENST00000589344.1_Missense_Mutation_p.M74L|AP2B1_ENST00000537622.2_Missense_Mutation_p.M74L|AP2B1_ENST00000312678.8_Missense_Mutation_p.M74L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	74					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)	p.M74L(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCTCTACTTGATGAACTACGC	0.428																																																1	Substitution - Missense(1)	kidney(1)											121	112	115					17																	33932800		2203	4300	6503	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.220A>T	17.37:g.33932800A>T	ENSP00000262325:p.Met74Leu		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956732	0.73902	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.54	5.54	0.83059	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.32530	0.975	0.80722	D	1	B;B;B	0.27656	0.115;0.184;0.096	B;B;B	0.28991	0.086;0.097;0.037	T	0.03453	-1.1035	10	0.54805	T	0.06	-6.9412	14.8732	0.70474	1.0:0.0:0.0:0.0	.	74;74;74	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	L	74;74;17;74	ENSP00000262325:M74L;ENSP00000314414:M74L;ENSP00000440563:M17L;ENSP00000437413:M74L	ENSP00000262325:M74L	M	+	1	0	AP2B1	30956913	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.104000	0.64026	0.383000	0.25322	ATG		0.428	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			T	33932800	A	T	33932800	3	4	184	1	0	0	0	0	1	0	0	0	741	333	12	5	230	5	AP2B1	17	33932800	Missense_Mutation	SNP	A	TCGA-B0-5099-01A-01D-1421-08	5085836	33932800	47262410	56	11561											
TNRC6C	57690	hgsc.bcm.edu	37	17	76083029	76083029	+	Frame_Shift_Del	DEL	G	G	-	rs373105504		TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr17:76083029delG	ENST00000588061.1	+	15	4384	c.3657delG	c.(3655-3657)ccgfs	p.P1222fs	TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.P1222fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.P1219fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.P1219fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.P1222fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.P1219fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1222	Pro-rich.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P1216P(1)|p.P1219P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCGCCACCGCCCCCGCCGC	0.667																																																2	Substitution - coding silent(2)	lung(2)											40	52	48					17																	76083029		2092	4209	6301	SO:0001589	frameshift_variant	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3657delG	17.37:g.76083029delG	ENSP00000468647:p.Pro1222fs		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	CCDS45798.1																																																																																				0.667	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		-	76083029	G	-	76083029	7	5	184	1	0	1	0	1	0	0	0	0	16347	1074	38	0	3699	0	TNRC6C	17	76083029	Frame_Shift_Del	DEL	G	TCGA-B0-5099-01A-01D-1421-08	42150229	76083029	5112181	57	11562											
ROCK1	6093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	18586538	18586538	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr18:18586538T>A	ENST00000399799.2	-	16	2599	c.1659A>T	c.(1657-1659)ttA>ttT	p.L553F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	553	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L553F(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGTCCTAAGTAAGTCATTGG	0.348																																																1	Substitution - Missense(1)	kidney(1)											100	87	91					18																	18586538		2203	4299	6502	SO:0001583	missense	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1659A>T	18.37:g.18586538T>A	ENSP00000382697:p.Leu553Phe		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	17.16	3.318193	0.60524	.	.	ENSG00000067900	ENST00000399799	T	0.65732	-0.17	5.44	4.29	0.51040	.	0.076828	0.52532	D	0.000072	T	0.63450	0.2512	M	0.72479	2.2	0.53005	D	0.999966	D	0.54047	0.964	P	0.47044	0.535	T	0.64584	-0.6373	10	0.49607	T	0.09	.	8.4413	0.32816	0.0:0.2146:0.0:0.7854	.	553	Q13464	ROCK1_HUMAN	F	553	ENSP00000382697:L553F	ENSP00000382697:L553F	L	-	3	2	ROCK1	16840536	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.743000	0.26231	1.090000	0.41315	0.533000	0.62120	TTA		0.348	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18586538	T	A	18586538	3	1	184	1	0	0	0	0	1	0	0	0	13523	1635	57	5	2477	5	ROCK1	18	18586538	Missense_Mutation	SNP	T	TCGA-B0-5099-01A-01D-1421-08		18586538	59490710	58	11563											
UBXN6	80700	broad.mit.edu;hgsc.bcm.edu	37	19	4446542	4446542	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr19:4446542A>C	ENST00000301281.6	-	8	999	c.875T>G	c.(874-876)tTc>tGc	p.F292C	UBXN6_ENST00000394765.3_Missense_Mutation_p.F239C|MIR4746_ENST00000579802.1_RNA|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	292						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.F292C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GAGGTTGAAGAAGTCCCCAGG	0.697																																																1	Substitution - Missense(1)	kidney(1)											25	27	26					19																	4446542		2200	4300	6500	SO:0001583	missense	80700			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.875T>G	19.37:g.4446542A>C	ENSP00000301281:p.Phe292Cys		D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011851	0.75046	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.65364	0.21;-0.15	5.25	5.25	0.73442	.	0.045831	0.85682	D	0.000000	D	0.82351	0.5018	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86331	0.1698	10	0.87932	D	0	-31.3314	14.3057	0.66384	1.0:0.0:0.0:0.0	.	239;292	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	C	292;239	ENSP00000301281:F292C;ENSP00000378246:F239C	ENSP00000301281:F292C	F	-	2	0	UBXN6	4397542	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	8.578000	0.90777	1.987000	0.57996	0.402000	0.26972	TTC		0.697	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		C	4446542	A	C	4446542	3	2	184	1	0	0	0	0	1	0	0	0	16922	246	9	5	466	5	UBXN6	19	4446542	Missense_Mutation	SNP	A	TCGA-B0-5099-01A-01D-1421-08		4446542	54682441	59	11564											
ARRDC5	645432	broad.mit.edu;hgsc.bcm.edu	37	19	4891119	4891119	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr19:4891119G>A	ENST00000381781.2	-	3	967	c.968C>T	c.(967-969)tCt>tTt	p.S323F	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	323								p.S323F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GCAGATGGCAGAGTCCACTGA	0.527																																																1	Substitution - Missense(1)	kidney(1)											95	99	98					19																	4891119		2129	4238	6367	SO:0001583	missense	645432				CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.968C>T	19.37:g.4891119G>A	ENSP00000371200:p.Ser323Phe			Missense_Mutation	SNP	ENST00000381781.2	37	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472876	0.26423	.	.	ENSG00000205784	ENST00000381781	T	0.22134	1.97	3.67	1.34	0.21922	Immunoglobulin E-set (1);	.	.	.	.	T	0.11836	0.0288	N	0.19112	0.55	0.09310	N	1	P	0.41041	0.736	B	0.35550	0.205	T	0.14896	-1.0456	9	0.59425	D	0.04	0.0578	8.0763	0.30718	0.0:0.0:0.5409:0.4591	.	323	A6NEK1	ARRD5_HUMAN	F	323	ENSP00000371200:S323F	ENSP00000371200:S323F	S	-	2	0	ARRDC5	4842119	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.734000	0.26101	0.458000	0.26988	0.650000	0.86243	TCT		0.527	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		A	4891119	G	A	4891119	3	1	184	1	0	0	0	0	1	0	0	0	986	942	33	2	64	2	ARRDC5	19	4891119	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08	444577	4891119	54237864	60	11565											
HPN	3249	broad.mit.edu;ucsc.edu	37	19	35540222	35540222	+	Silent	SNP	A	A	G			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr19:35540222A>G	ENST00000262626.2	+	3	870	c.45A>G	c.(43-45)agA>agG	p.R15R	HPN_ENST00000392226.1_Silent_p.R15R|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	15					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.R15R(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCTGCTCCAGACCCAAGGTGG	0.662																																																1	Substitution - coding silent(1)	kidney(1)											101	96	98					19																	35540222		2203	4300	6503	SO:0001819	synonymous_variant	3249				CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.45A>G	19.37:g.35540222A>G			B2RDS4	Silent	SNP	ENST00000262626.2	37	CCDS32993.1																																																																																				0.662	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		G	35540222	A	G	35540222	2	3	184	1	0	0	0	0	0	0	0	1	7338	272	10	3		3	HPN	19	35540222	Silent	SNP	A	TCGA-B0-5099-01A-01D-1421-08	30649103	35540222	23588761	61	11566											
SAPS1	22870	broad.mit.edu;hgsc.bcm.edu	37	19	55748092	55748092	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr19:55748092C>T	ENST00000412770.2	-	17	2473	c.1907G>A	c.(1906-1908)gGg>gAg	p.G636E	AC010327.1_ENST00000581390.1_RNA|PPP6R1_ENST00000587283.1_Missense_Mutation_p.G636E	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	636	Glu-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)	p.G636E(1)		breast(1)	1						ATCAGACTCCCCTGAGCCCTG	0.622																																																1	Substitution - Missense(1)	kidney(1)											53	55	54					19																	55748092		1982	4151	6133	SO:0001583	missense	22870			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1907G>A	19.37:g.55748092C>T	ENSP00000414202:p.Gly636Glu		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392411	0.42410	.	.	ENSG00000105063	ENST00000412770	T	0.41400	1.0	4.95	1.52	0.23074	.	0.162599	0.29355	N	0.012390	T	0.18002	0.0432	N	0.19112	0.55	0.25168	N	0.990306	B	0.20052	0.041	B	0.19666	0.026	T	0.23762	-1.0179	10	0.02654	T	1	-23.7426	2.9102	0.05734	0.1807:0.528:0.1898:0.1015	.	636	Q9UPN7	PP6R1_HUMAN	E	636	ENSP00000414202:G636E	ENSP00000414202:G636E	G	-	2	0	PPP6R1	60439904	0.994000	0.37717	0.950000	0.38849	0.971000	0.66376	1.515000	0.35845	0.551000	0.29008	0.563000	0.77884	GGG		0.622	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		T	55748092	C	T	55748092	3	4	184	1	0	0	0	0	1	0	0	0	13842	623	22	2	770	2	SAPS1	19	55748092	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08	20207870	55748092	3380891	62	11567											
GNAS	2778	broad.mit.edu	37	20	57428891	57428891	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr20:57428891G>C	ENST00000371100.4	+	1	1123	c.571G>C	c.(571-573)Gct>Cct	p.A191P	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.A191P|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.A191P|GNAS_ENST00000371075.3_Intron|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.V127V	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A191P(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGCCCAGGTGCTGCAGGGGT	0.622			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	1	Substitution - Missense(1)	kidney(1)											13	15	15					20																	57428891		1893	4111	6004	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.571G>C	20.37:g.57428891G>C	ENSP00000360141:p.Ala191Pro		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	6.537	0.467275	0.12402	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.92099	-2.97;-2.96	0.235	0.235	0.15431	.	9.526550	0.00397	N	0.000040	D	0.89441	0.6716	N	0.22421	0.69	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.80324	-0.1430	9	0.26408	T	0.33	.	.	.	.	.	191	Q5JWF2	GNAS1_HUMAN	P	191	ENSP00000360141:A191P;ENSP00000360143:A191P	ENSP00000360140:A191P	A	+	1	0	GNAS	56862286	0.000000	0.05858	0.005000	0.12908	0.856000	0.48823	0.039000	0.13884	0.308000	0.22923	0.313000	0.20887	GCT		0.622	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		C	57428891	G	C	57428891	3	2	184	1	0	0	0	0	1	0	0	0	6512	1319	46	4	1315	4	GNAS	20	57428891	Missense_Mutation	SNP	G	TCGA-B0-5099-01A-01D-1421-08		57428891	5596629	63	11568											
CDH4	1002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	60499473	60499473	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr20:60499473C>A	ENST00000360469.5	+	11	1798	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	CDH4_ENST00000543233.1_Missense_Mutation_p.D496E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	570	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D570E(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CAGTGCTGGACCGTGAGTCCC	0.617																																																1	Substitution - Missense(1)	kidney(1)											125	96	106					20																	60499473		2203	4300	6503	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1710C>A	20.37:g.60499473C>A	ENSP00000353656:p.Asp570Glu		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505462	0.44558	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.63255	-0.03;-0.03	4.44	2.18	0.27775	Cadherin (4);Cadherin-like (1);	0.046782	0.85682	N	0.000000	D	0.83119	0.5185	H	0.98507	4.25	0.58432	D	0.999997	D	0.63880	0.993	D	0.76575	0.988	T	0.80897	-0.1177	9	.	.	.	.	4.2181	0.10544	0.0:0.4087:0.0:0.5913	.	570	P55283	CADH4_HUMAN	E	570;478;496	ENSP00000353656:D570E;ENSP00000443301:D496E	.	D	+	3	2	CDH4	59932868	1.000000	0.71417	0.970000	0.41538	0.103000	0.19146	1.103000	0.31062	0.866000	0.35629	-0.258000	0.10820	GAC		0.617	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		A	60499473	C	A	60499473	3	1	184	1	0	0	0	0	1	0	0	0	3114	506	18	4	1752	4	CDH4	20	60499473	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08	3070582	60499473	2526047	64	11569											
NFAM1	150372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42807545	42807546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr22:42807545_42807546insC	ENST00000329021.5	-	2	355_356	c.318_319insG	c.(316-321)gagaacfs	p.N107fs		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	107	Ig-like V-type.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						TGGCTCTGGTTCTCTGTGCCCA	0.574																																																0																																										SO:0001589	frameshift_variant	150372			BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.319dupG	22.37:g.42807546_42807546dupC	ENSP00000333680:p.Asn107fs		B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Frame_Shift_Ins	INS	ENST00000329021.5	37	CCDS14034.1																																																																																				0.574	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1	NM_145912		C	42807546	-	C	42807545	7	5	184	1	0	1	1	0	0	0	0	0	10360	1783	62	0	513	0	NFAM1	22	42807545	Frame_Shift_Ins	INS	-	TCGA-B0-5099-01A-01D-1421-08		42807545	8497021	65	11570											
SCUBE1	80274	broad.mit.edu;hgsc.bcm.edu	37	22	43625097	43625097	+	Silent	SNP	G	G	A	rs375170368		TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chr22:43625097G>A	ENST00000360835.4	-	9	1191	c.1065C>T	c.(1063-1065)taC>taT	p.Y355Y		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	355	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.Y355Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGGTTGTCCCGTAGAGGATGT	0.677											OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	71	50	57		1065	-5.6	0.7	22		57	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	SCUBE1	NM_173050.3		0,3,6499	AA,AG,GG		0.0349,0.0,0.0231		355/989	43625097	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	80274				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1065C>T	22.37:g.43625097G>A		917	Q5R336	Silent	SNP	ENST00000360835.4	37	CCDS14048.1																																																																																				0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		A	43625097	G	A	43625097	2	1	184	1	0	0	0	0	0	0	0	1	13950	1140	40	1		1	SCUBE1	22	43625097	Silent	SNP	G	TCGA-B0-5099-01A-01D-1421-08	817552	43625097	7679469	66	11571											
CLCN4	1183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	10176319	10176319	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chrX:10176319C>T	ENST00000380833.4	+	9	1469	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	CLCN4_ENST00000421085.2_Missense_Mutation_p.R266C|CLCN4_ENST00000380829.1_Missense_Mutation_p.R329C	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	360					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.R360C(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGCAGGAGGCGCAAGACCAC	0.597																																					Melanoma(74;1050 1296 1576 30544 38374)											2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											107	102	104					X																	10176319		2203	4300	6503	SO:0001583	missense	1183			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1078C>T	X.37:g.10176319C>T	ENSP00000370213:p.Arg360Cys		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.168308	0.78339	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94828	-3.48;-3.53;-3.48	5.71	5.71	0.89125	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99628	1.0985	10	0.87932	D	0	-28.1314	18.999	0.92826	0.0:1.0:0.0:0.0	.	360	P51793	CLCN4_HUMAN	C	360;329;266	ENSP00000370213:R360C;ENSP00000370209:R329C;ENSP00000405754:R266C	ENSP00000370209:R329C	R	+	1	0	CLCN4	10136319	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.188000	0.50958	2.436000	0.82500	0.592000	0.82586	CGC		0.597	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			T	10176319	C	T	10176319	3	4	184	1	0	0	0	0	1	0	0	0	3467	768	27	1	1104	1	CLCN4	23	10176319	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08		10176319	145094241	67	11572											
CFP	5199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	47485783	47485783	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chrX:47485783C>T	ENST00000396992.3	-	7	1196	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	CFP_ENST00000247153.3_Missense_Mutation_p.R359Q|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000377005.2_Missense_Mutation_p.R359Q	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	359	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R359Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCCGGCACATCGATGTCCGTC	0.612																																																1	Substitution - Missense(1)	kidney(1)											64	55	58					X																	47485783		2203	4300	6503	SO:0001583	missense	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.1076G>A	X.37:g.47485783C>T	ENSP00000380189:p.Arg359Gln		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	C	9.859	1.195811	0.22037	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.50277	0.75;0.75;0.75	5.28	3.41	0.39046	.	0.504643	0.20634	N	0.088532	T	0.50188	0.1601	L	0.50847	1.595	0.09310	N	1	D;P	0.53885	0.963;0.552	P;B	0.54544	0.755;0.41	T	0.40021	-0.9585	10	0.12766	T	0.61	.	11.1291	0.48336	0.0:0.6366:0.3634:0.0	.	295;359	B3KVK6;P27918	.;PROP_HUMAN	Q	359	ENSP00000380189:R359Q;ENSP00000247153:R359Q;ENSP00000366204:R359Q	ENSP00000247153:R359Q	R	-	2	0	CFP	47370727	0.027000	0.19231	0.005000	0.12908	0.057000	0.15508	0.540000	0.23191	0.477000	0.27464	0.468000	0.43344	CGA		0.612	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		T	47485783	C	T	47485783	3	4	184	1	0	0	0	0	1	0	0	0	3295	884	31	1	345	1	CFP	23	47485783	Missense_Mutation	SNP	C	TCGA-B0-5099-01A-01D-1421-08	37309464	47485783	107784777	68	11573											
USP26	83844	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	132160271	132160271	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5099-01A-01D-1421-08	TCGA-B0-5099-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c3150136-ae55-49d0-9212-86728464167d	1b289013-495e-4a64-a3d1-4e5618c62f4c	g.chrX:132160271A>G	ENST00000511190.1	-	6	2447	c.1978T>C	c.(1978-1980)Tat>Cat	p.Y660H	USP26_ENST00000370832.1_Missense_Mutation_p.Y660H|USP26_ENST00000406273.1_Missense_Mutation_p.Y660H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	660	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.Y660H(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTCCAGATACGTCATTAAG	0.423																																					NSCLC(104;342 1621 36940 47097 52632)											1	Substitution - Missense(1)	kidney(1)											104	93	97					X																	132160271		2203	4300	6503	SO:0001583	missense	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1978T>C	X.37:g.132160271A>G	ENSP00000423390:p.Tyr660His		B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	A	3.623	-0.077174	0.07184	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.52526	0.66;0.66;0.66	4.04	-7.82	0.01205	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.883650	0.01638	N	0.023873	T	0.19046	0.0457	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.20306	-1.0279	10	0.12103	T	0.63	1.4315	0.1891	0.00132	0.2413:0.1927:0.2042:0.3618	.	660	Q9BXU7	UBP26_HUMAN	H	660	ENSP00000359869:Y660H;ENSP00000423390:Y660H;ENSP00000384360:Y660H	ENSP00000359869:Y660H	Y	-	1	0	USP26	131987937	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.395000	0.01053	-1.798000	0.01250	0.486000	0.48141	TAT		0.423	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		G	132160271	A	G	132160271	3	3	184	1	0	0	0	0	1	0	0	0	17062	391	14	3	766	3	USP26	23	132160271	Missense_Mutation	SNP	A	TCGA-B0-5099-01A-01D-1421-08	84674488	132160271	23110289	69	11574											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu	37	1	11188177	11188177	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr1:11188177T>A	ENST00000361445.4	-	43	5993	c.5917A>T	c.(5917-5919)Atc>Ttc	p.I1973F	MTOR_ENST00000376838.1_Missense_Mutation_p.I178F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1973	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.I1973F(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGTGGGTAGATGAGGGCCTGA	0.463																																																1	Substitution - Missense(1)	kidney(1)											107	113	111					1																	11188177		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5917A>T	1.37:g.11188177T>A	ENSP00000354558:p.Ile1973Phe		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.965107	0.92855	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.80123	-0.27;-1.34	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	M	0.81497	2.545	0.80722	D	1	D	0.63046	0.992	P	0.58970	0.849	D	0.90198	0.4255	10	0.87932	D	0	-10.8404	16.1549	0.81657	0.0:0.0:0.0:1.0	.	1973	P42345	MTOR_HUMAN	F	1973;178	ENSP00000354558:I1973F;ENSP00000366034:I178F	ENSP00000354558:I1973F	I	-	1	0	MTOR	11110764	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.466000	0.80914	2.209000	0.71365	0.533000	0.62120	ATC		0.463	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		A	11188177	T	A	11188177	3	1	185	1	0	0	0	0	1	0	0	0	9956	1464	51	5	1796	5	MTOR	1	11188177	Missense_Mutation	SNP	T	TCGA-B0-5100-01A-01D-1421-08		11188177	238062444	1	11575											
SFRS11	9295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70712550	70712550	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr1:70712550A>G	ENST00000370950.3	+	10	1064	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E	SRSF11_ENST00000370951.1_Missense_Mutation_p.K328E|SRSF11_ENST00000405432.1_Missense_Mutation_p.K328E|SRSF11_ENST00000370949.1_Missense_Mutation_p.K268E|SRSF11_ENST00000484162.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	328	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K328E(1)		large_intestine(3)|ovary(2)|skin(1)	6						AACACCACCAAAAAGTTACAG	0.358																																																1	Substitution - Missense(1)	kidney(1)											149	140	143					1																	70712550		2203	4300	6503	SO:0001583	missense	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.982A>G	1.37:g.70712550A>G	ENSP00000359988:p.Lys328Glu		Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921013	0.73213	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;D;T	0.97256	-1.93;-1.93;-1.93;-4.31;-0.63	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97888	0.9306	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.67145	0.996;0.993;0.993;0.993	D;D;D;D	0.76071	0.987;0.971;0.971;0.971	D	0.98360	1.0548	10	0.52906	T	0.07	.	15.9562	0.79889	1.0:0.0:0.0:0.0	.	268;328;328;328	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	E	328;328;328;328;268	ENSP00000359989:K328E;ENSP00000359988:K328E;ENSP00000384357:K328E;ENSP00000378568:K328E;ENSP00000359987:K268E	ENSP00000359987:K268E	K	+	1	0	SRSF11	70485138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.831000	0.92068	2.253000	0.74438	0.455000	0.32223	AAA		0.358	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		G	70712550	A	G	70712550	3	3	185	1	0	0	0	0	1	0	0	0	14172	15	1	3	1016	3	SFRS11	1	70712550	Missense_Mutation	SNP	A	TCGA-B0-5100-01A-01D-1421-08	59524373	70712550	178538071	2	11576											
APCS	325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159557958	159557958	+	Silent	SNP	G	G	A	rs371650621		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr1:159557958G>A	ENST00000255040.2	+	2	229	c.132G>A	c.(130-132)ccG>ccA	p.P44P		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	44	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)	p.P44P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGATCACACCGCTGGAGAAGC	0.443																																																1	Substitution - coding silent(1)	kidney(1)						G		2,4404	4.2+/-10.8	0,2,2201	103	101	102		132	-6.4	0	1		102	0,8600		0,0,4300	no	coding-synonymous	APCS	NM_001639.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		44/224	159557958	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	325				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"pentaxin-related", "9.5S alpha-1-glycoprotein"	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.132G>A	1.37:g.159557958G>A				Silent	SNP	ENST00000255040.2	37	CCDS1186.1																																																																																				0.443	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		A	159557958	G	A	159557958	2	1	185	1	0	0	0	0	0	0	0	1	767	1074	38	1		1	APCS	1	159557958	Silent	SNP	G	TCGA-B0-5100-01A-01D-1421-08	88845408	159557958	89692663	3	11577											
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237947421	237947421	+	Missense_Mutation	SNP	G	G	A	rs267598439		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr1:237947421G>A	ENST00000366574.2	+	90	12726	c.12409G>A	c.(12409-12411)Gaa>Aaa	p.E4137K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4121K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4143K|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4137					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E4135K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGCCGCATCGAAATCATGGG	0.512																																																1	Substitution - Missense(1)	kidney(1)											69	70	70					1																	237947421		1911	4136	6047	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12409G>A	1.37:g.237947421G>A	ENSP00000355533:p.Glu4137Lys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272038	0.95429	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97941	-4.62;-4.62;-4.62	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	D	0.98629	0.9541	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.991;0.995	D	0.99814	1.1043	10	0.87932	D	0	.	19.4843	0.95024	0.0:0.0:1.0:0.0	.	1111;4137	B4DGV4;Q92736	.;RYR2_HUMAN	K	4137;4143;4121;1111	ENSP00000355533:E4137K;ENSP00000353174:E4143K;ENSP00000443798:E4121K	ENSP00000353174:E4143K	E	+	1	0	RYR2	236014044	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	9.813000	0.99286	2.610000	0.88304	0.655000	0.94253	GAA		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237947421	G	A	237947421	3	1	185	1	0	0	0	0	1	0	0	0	13775	1059	37	1	12767	1	RYR2	1	237947421	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08	78389463	237947421	11303200	4	11578											
NLRP3	114548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247586613	247586613	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr1:247586613A>G	ENST00000336119.3	+	2	1111	c.365A>G	c.(364-366)gAg>gGg	p.E122G	NLRP3_ENST00000391828.3_Missense_Mutation_p.E122G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.E122G|NLRP3_ENST00000366497.2_Missense_Mutation_p.E122G|NLRP3_ENST00000391827.2_Missense_Mutation_p.E122G|NLRP3_ENST00000348069.2_Missense_Mutation_p.E122G	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	122					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.E122G(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGTTTACTGGAGTACCTTTCG	0.438																																																1	Substitution - Missense(1)	kidney(1)											197	195	196					1																	247586613		2203	4300	6503	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.365A>G	1.37:g.247586613A>G	ENSP00000337383:p.Glu122Gly		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	A	0.295	-0.977490	0.02197	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.74842	-0.8;-0.81;-0.8;-0.88;-0.81;-0.84	4.1	1.03	0.20045	.	0.874893	0.09712	N	0.765543	T	0.46795	0.1411	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.30534	-0.9975	10	0.31617	T	0.26	.	4.2426	0.10656	0.2125:0.19:0.5975:0.0	.	122;122;122;122;122	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	G	122	ENSP00000375704:E122G;ENSP00000355453:E122G;ENSP00000337383:E122G;ENSP00000294752:E122G;ENSP00000355452:E122G;ENSP00000375703:E122G	ENSP00000337383:E122G	E	+	2	0	NLRP3	245653236	0.002000	0.14202	0.001000	0.08648	0.006000	0.05464	0.235000	0.17948	0.280000	0.22209	-0.177000	0.13119	GAG		0.438	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		G	247586613	A	G	247586613	3	3	185	1	0	0	0	0	1	0	0	0	10480	304	11	3	371	3	NLRP3	1	247586613	Missense_Mutation	SNP	A	TCGA-B0-5100-01A-01D-1421-08	9639192	247586613	1664008	5	11579											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179397153	179397153	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr2:179397153G>A	ENST00000591111.1	-	308	99490	c.99266C>T	c.(99265-99267)aCc>aTc	p.T33089I	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32162I|TTN_ENST00000589042.1_Missense_Mutation_p.T34730I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25857I|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25665I|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25790I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33089					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)	p.T32160I(1)|p.T32162I(1)|p.T25857I(1)|p.T25665I(1)|p.T25790I(1)		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)			GATGTGATAGGTTGAATACCT	0.488																																																5	Substitution - Missense(5)	kidney(5)											210	196	200					2																	179397153		1983	4149	6132	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99266C>T	2.37:g.179397153G>A	ENSP00000465570:p.Thr33089Ile		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.95	2.688190	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;0.15;0.13;0.12	5.93	5.05	0.67936	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46964	0.1420	N	0.08118	0	0.32390	N	0.553429	P;P;P;P	0.45902	0.651;0.651;0.868;0.791	B;B;B;B	0.42319	0.198;0.198;0.383;0.198	T	0.62129	-0.6919	9	0.87932	D	0	.	15.6955	0.77494	0.0:0.3729:0.6271:0.0	.	25665;25790;25857;33089	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	32162;25665;25857;25790;25662	ENSP00000343764:T32162I;ENSP00000434586:T25665I;ENSP00000340554:T25857I;ENSP00000352154:T25790I	ENSP00000340554:T25857I	T	-	2	0	TTN	179105399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.671000	0.54576	1.487000	0.48415	0.655000	0.94253	ACC		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179397153	G	A	179397153	3	1	185	1	0	0	0	0	1	0	0	0	16740	1261	44	2	3810	2	TTN	2	179397153	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08		179397153	63802220	6	11580											
ZNF385B	151126	broad.mit.edu;hgsc.bcm.edu	37	2	180308134	180308134	+	Missense_Mutation	SNP	G	G	C	rs371958237		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr2:180308134G>C	ENST00000410066.1	-	10	1862	c.1259C>G	c.(1258-1260)cCt>cGt	p.P420R	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.P344R|ZNF385B_ENST00000409692.1_Missense_Mutation_p.P318R|ZNF385B_ENST00000336917.5_Missense_Mutation_p.P318R	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	420	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.P420R(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CGCTGCGAGAGGTGAGGACAG	0.597																																					Colon(155;204 2491 32774 51842)											1	Substitution - Missense(1)	kidney(1)						G	ARG/PRO,ARG/PRO,ARG/PRO	0,4402		0,0,2201	29	37	34		1031,953,1259	4.6	1	2		34	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	ZNF385B	NM_001113397.1,NM_001113398.1,NM_152520.4	103,103,103	0,1,6499	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	344/396,318/370,420/472	180308134	1,12999	2201	4299	6500	SO:0001583	missense	151126			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1259C>G	2.37:g.180308134G>C	ENSP00000386845:p.Pro420Arg		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093153	0.36952	0.0	1.16E-4	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692	T;T;T;T	0.38240	1.15;1.24;1.18;1.24	5.49	4.61	0.57282	.	0.051751	0.85682	D	0.000000	T	0.57154	0.2034	M	0.64997	1.995	0.80722	D	1	P;D	0.89917	0.917;1.0	P;D	0.91635	0.603;0.999	T	0.61337	-0.7083	10	0.87932	D	0	-17.7094	14.3095	0.66407	0.0714:0.0:0.9286:0.0	.	420;344	Q569K4;Q569K4-2	Z385B_HUMAN;.	R	420;318;344;318	ENSP00000386845:P420R;ENSP00000338225:P318R;ENSP00000386379:P344R;ENSP00000386507:P318R	ENSP00000338225:P318R	P	-	2	0	ZNF385B	180016379	1.000000	0.71417	0.980000	0.43619	0.100000	0.18952	6.225000	0.72271	1.312000	0.45043	-0.258000	0.10820	CCT		0.597	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		C	180308134	G	C	180308134	3	2	185	1	0	0	0	0	1	0	0	0	17882	1000	35	4	160	4	ZNF385B	2	180308134	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08	910981	180308134	62891239	7	11581											
COL4A3	1285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228173652	228173652	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr2:228173652G>A	ENST00000396578.3	+	49	4662	c.4500G>A	c.(4498-4500)atG>atA	p.M1500I	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1500	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.|Required for the anti-angiogenic activity of tumstatin.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.M1500I(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTACCACAATGCCATTCTTAT	0.388																																																2	Substitution - Missense(2)	kidney(2)											123	112	115					2																	228173652		1916	4129	6045	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4500G>A	2.37:g.228173652G>A	ENSP00000379823:p.Met1500Ile		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308334	0.81247	.	.	ENSG00000169031	ENST00000396578;ENST00000328380	D	0.94330	-3.4	5.97	5.97	0.96955	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.84219	2.685	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.97024	0.9745	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	1500;1500	Q01955-2;Q01955	.;CO4A3_HUMAN	I	1500	ENSP00000379823:M1500I	ENSP00000327594:M1500I	M	+	3	0	COL4A3	227881896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.836000	0.97738	0.655000	0.94253	ATG		0.388	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		A	228173652	G	A	228173652	3	1	185	1	0	0	0	0	1	0	0	0	3693	1319	46	2	4694	2	COL4A3	2	228173652	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08	47865518	228173652	15025721	8	11582											
DOCK3	1795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	51198060	51198060	+	Silent	SNP	C	C	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr3:51198060C>T	ENST00000266037.9	+	12	987	c.964C>T	c.(964-966)Cta>Tta	p.L322L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	322					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L322L(1)|p.L311L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTGTGCGGTCCTAAGCATCTT	0.468																																																2	Substitution - coding silent(2)	kidney(2)											78	80	79					3																	51198060		2019	4184	6203	SO:0001819	synonymous_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.964C>T	3.37:g.51198060C>T			O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.468	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		T	51198060	C	T	51198060	2	4	185	1	0	0	0	0	0	0	0	1	4690	680	24	2		2	DOCK3	3	51198060	Silent	SNP	C	TCGA-B0-5100-01A-01D-1421-08		51198060	146824370	9	11583											
CD200	4345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	112054820	112054820	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr3:112054820C>T	ENST00000473539.1	+	2	100	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	CD200_ENST00000607516.1_3'UTR|CD200_ENST00000315711.8_Intron|CD200_ENST00000383681.3_Intron	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L15F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GGGCCCTCTCCTTACAGCTAC	0.443																																																1	Substitution - Missense(1)	kidney(1)											144	149	147					3																	112054820		2203	4300	6503	SO:0001583	missense	4345				CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7203	protein-coding gene	gene with protein product		155970	"antigen identified by monoclonal antibody MRC OX-2", "CD200 antigen"	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000473539.1:c.43C>T	3.37:g.112054820C>T	ENSP00000420298:p.Leu15Phe		B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	ENST00000473539.1	37	CCDS33818.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855442	0.32791	.	.	ENSG00000091972	ENST00000473539	T	0.73363	-0.74	2.29	0.428	0.16499	.	.	.	.	.	T	0.60222	0.2252	.	.	.	0.09310	N	0.999999	B	0.12013	0.005	B	0.06405	0.002	T	0.52704	-0.8540	8	0.87932	D	0	2.3603	4.4854	0.11787	0.0:0.6564:0.0:0.3436	.	15	P41217-3	.	F	15	ENSP00000420298:L15F	ENSP00000420298:L15F	L	+	1	0	CD200	113537510	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-1.947000	0.01534	0.082000	0.17018	-0.208000	0.12717	CTT		0.443	CD200-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354079.1			T	112054820	C	T	112054820	3	4	185	1	0	0	0	0	1	0	0	0	2982	681	24	2	49	2	CD200	3	112054820	Missense_Mutation	SNP	C	TCGA-B0-5100-01A-01D-1421-08	60856760	112054820	85967610	10	11584											
MASP1	5648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186947662	186947662	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr3:186947662G>A	ENST00000337774.5	-	11	1716	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	443					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.R443W(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ATCAGCTTCCGGGAGAACTTG	0.607																																																1	Substitution - Missense(1)	kidney(1)											67	63	64					3																	186947662		2203	4300	6503	SO:0001583	missense	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1327C>T	3.37:g.186947662G>A	ENSP00000336792:p.Arg443Trp		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088790	0.76756	.	.	ENSG00000127241	ENST00000337774	D	0.93019	-3.15	5.7	2.44	0.29823	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	D	0.93409	0.7898	L	0.55990	1.75	0.80722	D	1	D	0.64830	0.994	P	0.54270	0.747	D	0.92643	0.6126	9	0.59425	D	0.04	.	12.368	0.55240	0.0:0.0:0.3933:0.6067	.	443	P48740	MASP1_HUMAN	W	443	ENSP00000336792:R443W	ENSP00000336792:R443W	R	-	1	2	MASP1	188430356	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	1.413000	0.34725	0.840000	0.34995	-0.152000	0.13540	CGG		0.607	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		A	186947662	G	A	186947662	3	1	185	1	0	0	0	0	1	0	0	0	9324	1115	39	1	796	1	MASP1	3	186947662	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08	74892842	186947662	11074768	11	11585											
ADCY2	108	broad.mit.edu;ucsc.edu	37	5	7626320	7626320	+	Missense_Mutation	SNP	C	C	T	rs188113151		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr5:7626320C>T	ENST00000338316.4	+	4	700	c.611C>T	c.(610-612)gCg>gTg	p.A204V		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	204				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.A204V(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGGAACCTGGCGGGAGCCTAC	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18433	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											155	151	153					5																	7626320		2203	4300	6503	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.611C>T	5.37:g.7626320C>T	ENSP00000342952:p.Ala204Val		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.368	0.834560	0.16820	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.75821	-0.97	5.09	4.2	0.49525	.	0.116409	0.64402	D	0.000020	T	0.58750	0.2144	L	0.36672	1.1	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.51671	-0.8676	10	0.02654	T	1	.	11.8488	0.52399	0.0:0.9138:0.0:0.0862	.	204	Q08462	ADCY2_HUMAN	V	204;55	ENSP00000342952:A204V	ENSP00000342952:A204V	A	+	2	0	ADCY2	7679320	1.000000	0.71417	0.958000	0.39756	0.926000	0.56050	5.406000	0.66357	2.520000	0.84964	0.655000	0.94253	GCG		0.438	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		T	7626320	C	T	7626320	3	4	185	1	0	0	0	0	1	0	0	0	294	768	27	1	625	1	ADCY2	5	7626320	Missense_Mutation	SNP	C	TCGA-B0-5100-01A-01D-1421-08		7626320	173288940	12	11586											
CDKN2AIPNL	91368	hgsc.bcm.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu	37	5	133747410	133747411	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr5:133747410_133747411GC>AA	ENST00000458198.2	-	1	178_179	c.135_136GC>TT	c.(133-138)ctGCgc>ctTTgc	p.R46C	CDKN2AIPNL_ENST00000395009.3_Missense_Mutation_p.R46C	NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	46								p.L45>?(1)|p.L45L(1)		central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCAGGTGGCGCAGGATGAATT	0.658											OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Complex(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	91368			BC008293	CCDS4175.1	5q31.1	2008-02-05			ENSG00000237190	ENSG00000237190			30545	protein-coding gene	gene with protein product						12477932	Standard	NM_080656		Approved	MGC13017	uc011cxs.2	Q96HQ2	OTTHUMG00000129123	ENST00000458198.2:c.135_136delinsAA	5.37:g.133747410_133747411delinsAA	ENSP00000394183:p.Arg46Cys	1605	Q8WVE3	Missense_Mutation|Silent	SNP	ENST00000458198.2	37	CCDS4175.1																																																																																				0.658	CDKN2AIPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251171.2	NM_080656		AA	133747411	GC	AA	133747410	3	1	185	1	0	0	0	0	1	0	0	0	3165	1087	38	1	226	1	CDKN2AIPNL	5	133747410	Missense_Mutation	DNP	GC	TCGA-B0-5100-01A-01D-1421-08	126121090	133747410	47167850	13	11587											
PCDHB16	57717	broad.mit.edu;hgsc.bcm.edu	37	5	140563511	140563511	+	Silent	SNP	C	C	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr5:140563511C>T	ENST00000361016.2	+	1	2532	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	459	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F459F(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.582																																																1	Substitution - coding silent(1)	kidney(1)											104	100	101					5																	140563511		2203	4300	6503	SO:0001819	synonymous_variant	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1377C>T	5.37:g.140563511C>T			B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.582	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140563511	C	T	140563511	2	4	185	1	0	0	0	0	0	0	0	1	11543	883	31	1		1	PCDHB16	5	140563511	Silent	SNP	C	TCGA-B0-5100-01A-01D-1421-08	6816101	140563511	40351749	14	11588											
MRPS18B	28973	broad.mit.edu;hgsc.bcm.edu	37	6	30593435	30593435	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr6:30593435T>C	ENST00000259873.4	+	7	795	c.638T>C	c.(637-639)cTg>cCg	p.L213P	ATAT1_ENST00000376483.4_5'Flank|ATAT1_ENST00000318999.7_5'Flank|ATAT1_ENST00000329992.8_5'Flank|ATAT1_ENST00000330083.5_5'Flank|MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_3'UTR|ATAT1_ENST00000319027.5_5'Flank|ATAT1_ENST00000376485.4_5'Flank|ATAT1_ENST00000376478.2_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	213					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)	p.L213P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GAGAGAGAACTGTCTCGCCTT	0.607																																																1	Substitution - Missense(1)	kidney(1)											107	118	114					6																	30593435		1510	2709	4219	SO:0001583	missense	28973			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.638T>C	6.37:g.30593435T>C	ENSP00000259873:p.Leu213Pro		A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	ENST00000259873.4	37	CCDS4682.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884250	0.51908	.	.	ENSG00000204568	ENST00000259873;ENST00000376508	T	0.57907	0.37	5.43	5.43	0.79202	.	0.088969	0.47093	D	0.000248	T	0.63426	0.2510	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.68488	-0.5395	10	0.87932	D	0	.	13.0889	0.59156	0.0:0.0:0.0:1.0	.	170;213	Q5STN0;Q9Y676	.;RT18B_HUMAN	P	213;170	ENSP00000259873:L213P	ENSP00000259873:L213P	L	+	2	0	MRPS18B	30701414	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	5.146000	0.64845	2.279000	0.76181	0.533000	0.62120	CTG		0.607	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			C	30593435	T	C	30593435	3	2	185	1	0	0	0	0	1	0	0	0	9831	1580	55	3	664	3	MRPS18B	6	30593435	Missense_Mutation	SNP	T	TCGA-B0-5100-01A-01D-1421-08		30593435	140521632	15	11589											
MAP3K4	4216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	161530934	161530934	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr6:161530934C>T	ENST00000392142.4	+	23	4532	c.4384C>T	c.(4384-4386)Cgt>Tgt	p.R1462C	MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1412C|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1458C|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1408C	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.R1462C(1)|p.R1461C(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATAGTCCACCGTGACATTAA	0.552																																																2	Substitution - Missense(2)	kidney(2)											149	123	132					6																	161530934		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4384C>T	6.37:g.161530934C>T	ENSP00000375986:p.Arg1462Cys		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588525	0.86851	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.02	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.52565	0.1742	L	0.48877	1.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.57100	-0.7869	10	0.87932	D	0	-18.6037	13.101	0.59219	0.1597:0.8403:0.0:0.0	.	1458;398;1412;1462	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	C	1412;1462;1412;1458;1408	ENSP00000355886:R1412C;ENSP00000375986:R1462C;ENSP00000355887:R1458C;ENSP00000297332:R1408C	ENSP00000297332:R1408C	R	+	1	0	MAP3K4	161450924	1.000000	0.71417	0.915000	0.36163	0.987000	0.75469	3.802000	0.55553	2.324000	0.78689	0.655000	0.94253	CGT		0.552	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			T	161530934	C	T	161530934	3	4	185	1	0	0	0	0	1	0	0	0	9254	652	23	1	4474	1	MAP3K4	6	161530934	Missense_Mutation	SNP	C	TCGA-B0-5100-01A-01D-1421-08	130937499	161530934	9584133	16	11590											
SMURF1	57154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	98639741	98639741	+	Splice_Site	SNP	G	G	C	rs138664041		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr7:98639741G>C	ENST00000361125.1	-	13	1768	c.1449C>G	c.(1447-1449)ccC>ccG	p.P483P	SMURF1_ENST00000361368.2_Splice_Site_p.P457P|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	483	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)	p.P483P(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TCATACTTACGGGGTTGATTG	0.383																																																1	Substitution - coding silent(1)	kidney(1)											92	88	89					7																	98639741		2203	4300	6503	SO:0001630	splice_region_variant	57154			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1449+1C>G	7.37:g.98639741G>C			A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	CCDS34690.1																																																																																				0.383	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429	Silent	C	98639741	G	C	98639741	5	2	185	1	0	0	0	0	0	0	1	0	14825	1130	39	4	852	4	SMURF1	7	98639741	Splice_Site	SNP	G	TCGA-B0-5100-01A-01D-1421-08		98639741	60498922	17	11591											
ZNHIT1	10467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100867049	100867049	+	Silent	SNP	A	A	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr7:100867049A>T	ENST00000305105.2	+	4	897	c.369A>T	c.(367-369)ccA>ccT	p.P123P	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	123					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)	p.P123P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GTGGCTTCCCATCCCCCTACA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											63	60	61					7																	100867049		2203	4300	6503	SO:0001819	synonymous_variant	10467			AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"Zinc fingers, HIT-type"	21688	protein-coding gene	gene with protein product	"putative cyclin G1 interacting protein"		"zinc finger protein, subfamily 4A (HIT domain containing), member 1", "zinc finger, HIT domain containing 1"	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.369A>T	7.37:g.100867049A>T			Q6IB12	Silent	SNP	ENST00000305105.2	37	CCDS5716.1																																																																																				0.652	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347488.1	NM_006349		T	100867049	A	T	100867049	2	4	185	1	0	0	0	0	0	0	0	1	18211	204	8	5		5	ZNHIT1	7	100867049	Silent	SNP	A	TCGA-B0-5100-01A-01D-1421-08	2227308	100867049	58271614	18	11592											
NOS3	4846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150698930	150698930	+	Silent	SNP	G	G	A	rs61734203	byFrequency	TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr7:150698930G>A	ENST00000484524.1	+	12	1524	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S	NOS3_ENST00000297494.3_Silent_p.S508S|NOS3_ENST00000461406.1_Silent_p.S302S|NOS3_ENST00000467517.1_Silent_p.S508S	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S508S(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTCCGCCTCGCTCATGGGCA	0.657																																																1	Substitution - coding silent(1)	kidney(1)						G	,,,	1,4405	2.1+/-5.4	0,1,2202	55	54	54		1524,1524,1524,1524	-9.6	0.6	7	dbSNP_129	54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS3	NM_000603.4,NM_001160109.1,NM_001160110.1,NM_001160111.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	508/1204,508/597,508/615,508/630	150698930	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1524G>A	7.37:g.150698930G>A			Q495E5	Silent	SNP	ENST00000484524.1	37	CCDS55182.1																																																																																				0.657	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		A	150698930	G	A	150698930	2	1	185	1	0	0	0	0	0	0	0	1	10546	1074	38	1		1	NOS3	7	150698930	Silent	SNP	G	TCGA-B0-5100-01A-01D-1421-08	49831881	150698930	8439733	19	11593											
UNC5D	137970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	35631934	35631934	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr8:35631934G>A	ENST00000404895.2	+	16	2924	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	UNC5D_ENST00000420357.1_Missense_Mutation_p.D799N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D861N|UNC5D_ENST00000449677.1_Missense_Mutation_p.D442N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D871N|UNC5D_ENST00000287272.2_Missense_Mutation_p.D797N	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	866	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D861N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCTACATTTGATACCCCCAA	0.478																																																1	Substitution - Missense(1)	kidney(1)											125	113	117					8																	35631934		2203	4300	6503	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2596G>A	8.37:g.35631934G>A	ENSP00000385143:p.Asp866Asn		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	36	5.637462	0.96693	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	5.95	5.95	0.96441	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.985;0.935;0.961	T	0.60469	-0.7257	10	0.87932	D	0	-28.2237	20.4024	0.99000	0.0:0.0:1.0:0.0	.	442;861;866	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	N	866;799;797;871;861;442	ENSP00000385143:D866N;ENSP00000392739:D799N;ENSP00000287272:D797N;ENSP00000412652:D871N;ENSP00000394303:D861N;ENSP00000397211:D442N	ENSP00000287272:D797N	D	+	1	0	UNC5D	35751476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.827000	0.97445	0.650000	0.86243	GAT		0.478	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			A	35631934	G	A	35631934	3	1	185	1	0	0	0	0	1	0	0	0	17000	1290	45	2	2658	2	UNC5D	8	35631934	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08		35631934	110732088	20	11594											
ASPH	444	hgsc.bcm.edu	37	8	62588723	62588724	+	Intron	INS	-	-	TTC	rs573164897	byFrequency	TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr8:62588723_62588724insTTC	ENST00000379454.4	-	3	510				ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517661.1_In_Frame_Ins_p.145_146insE|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000379449.6_In_Frame_Ins_p.174_175insE|ASPH_ENST00000356457.5_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						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)	GCGGTTTCGCTTTCTTCTTCTT	0.376														27	0.00539137	0.0204	0.0	5008	,	,		20863	0.0		0.0	False		,,,				2504	0.0															0									,,,,,,,,,,,	35,3247		0,35,1606					,,,,,,,,,,,	5.9	1			114	4,7048		0,4,3522	no	intron,intron,intron,intron,intron,coding,intron,intron,intron,intron,intron,intron	ASPH	NM_032468.4,NM_032467.3,NM_032466.3,NM_020164.4,NM_004318.3,NM_001164756.1,NM_001164755.1,NM_001164754.1,NM_001164753.1,NM_001164752.1,NM_001164751.1,NM_001164750.1	,,,,,,,,,,,	0,39,5128	A1A1,A1R,RR		0.0567,1.0664,0.3774	,,,,,,,,,,,	,,,,,,,,,,,		39,10295				SO:0001627	intron_variant	444			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.322+4802->GAA	8.37:g.62588730_62588732dupTTC			A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	In_Frame_Ins	INS	ENST00000379454.4	37	CCDS34898.1																																																																																				0.376	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		TTC	62588724	-	TTC	62588723	6	5	185	0	1	1	1	0	0	0	0	0	1053	1609	56	0		0	ASPH	8	62588723	Intron	INS	-	TCGA-B0-5100-01A-01D-1421-08	26956789	62588723	83775299	21	11595											
CPSF1	29894	broad.mit.edu	37	8	145626349	145626349	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr8:145626349C>A	ENST00000349769.3	-	6	602	c.508G>T	c.(508-510)Gct>Tct	p.A170S	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	170					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.A170S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCTCCTCAGCCAGGCTCTCC	0.721																																					NSCLC(133;1088 1848 27708 34777 35269)											1	Substitution - Missense(1)	kidney(1)											26	28	27					8																	145626349		2202	4300	6502	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.508G>T	8.37:g.145626349C>A	ENSP00000339353:p.Ala170Ser		Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821491	0.32237	.	.	ENSG00000071894	ENST00000349769;ENST00000531042	T	0.45276	0.9	4.86	4.86	0.63082	.	0.123243	0.56097	D	0.000039	T	0.33585	0.0868	L	0.41573	1.285	0.43782	D	0.996315	B;B;B	0.29232	0.016;0.238;0.018	B;B;B	0.31101	0.016;0.124;0.044	T	0.08229	-1.0732	10	0.09084	T	0.74	-0.0878	15.5403	0.76039	0.0:1.0:0.0:0.0	.	170;92;170	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	S	170	ENSP00000339353:A170S	ENSP00000339353:A170S	A	-	1	0	CPSF1	145597157	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.938000	0.28965	2.540000	0.85666	0.655000	0.94253	GCT		0.721	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		A	145626349	C	A	145626349	3	1	185	1	0	0	0	0	1	0	0	0	3826	739	26	4	3955	4	CPSF1	8	145626349	Missense_Mutation	SNP	C	TCGA-B0-5100-01A-01D-1421-08	83037626	145626349	737673	22	11596											
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12071445	12071445	+	Silent	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr10:12071445G>A	ENST00000356352.2	-	2	917	c.444C>T	c.(442-444)aaC>aaT	p.N148N	UPF2_ENST00000357604.5_Silent_p.N148N|UPF2_ENST00000397053.2_Silent_p.N148N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	148					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.N148N(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GAGCATTTTGGTTTTTGCTAC	0.368																																																1	Substitution - coding silent(1)	kidney(1)											96	107	103					10																	12071445		2199	4292	6491	SO:0001819	synonymous_variant	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.444C>T	10.37:g.12071445G>A			A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	CCDS7086.1																																																																																				0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			A	12071445	G	A	12071445	2	1	185	1	0	0	0	0	0	0	0	1	17009	1252	44	2		2	UPF2	10	12071445	Silent	SNP	G	TCGA-B0-5100-01A-01D-1421-08		12071445	123463302	23	11597											
TBC1D12	23232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96291127	96291127	+	Silent	SNP	A	A	G			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr10:96291127A>G	ENST00000225235.4	+	12	2279	c.2169A>G	c.(2167-2169)ctA>ctG	p.L723L	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	723							Rab GTPase activator activity (GO:0005097)	p.L723L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CACAGTTTCTAACTAAATTGC	0.383																																																1	Substitution - coding silent(1)	kidney(1)											104	98	100					10																	96291127		1845	4094	5939	SO:0001819	synonymous_variant	23232			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2169A>G	10.37:g.96291127A>G			Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																				0.383	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			G	96291127	A	G	96291127	2	3	185	1	0	0	0	0	0	0	0	1	15606	349	13	3		3	TBC1D12	10	96291127	Silent	SNP	A	TCGA-B0-5100-01A-01D-1421-08	84219682	96291127	39243620	24	11598											
PCF11	51585	broad.mit.edu;ucsc.edu	37	11	82878246	82878246	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr11:82878246T>C	ENST00000298281.4	+	6	2349	c.1897T>C	c.(1897-1899)Tca>Cca	p.S633P		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	633					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.S732P(1)|p.S633P(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AGGAATTTTATCACCTCGAGC	0.408																																																2	Substitution - Missense(2)	kidney(2)											118	115	116					11																	82878246		1945	4146	6091	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1897T>C	11.37:g.82878246T>C	ENSP00000298281:p.Ser633Pro		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501503	0.64298	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.52057	1.67;0.72;0.68	5.98	5.98	0.97165	.	0.000000	0.47852	D	0.000204	T	0.53948	0.1828	L	0.29908	0.895	0.41346	D	0.987336	D;D	0.71674	0.998;0.995	P;P	0.60682	0.878;0.852	T	0.51100	-0.8748	9	.	.	.	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	633;633	E9PQ01;O94913	.;PCF11_HUMAN	P	633	ENSP00000298281:S633P;ENSP00000434540:S633P;ENSP00000431567:S633P	.	S	+	1	0	PCF11	82555894	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.487000	0.60293	2.289000	0.77006	0.482000	0.46254	TCA		0.408	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		C	82878246	T	C	82878246	3	2	185	1	0	0	0	0	1	0	0	0	11575	1435	50	3	1919	3	PCF11	11	82878246	Missense_Mutation	SNP	T	TCGA-B0-5100-01A-01D-1421-08		82878246	52128270	25	11599											
FAM113B	91523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	47629507	47629507	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr12:47629507G>A	ENST00000546455.1	+	4	1392	c.661G>A	c.(661-663)Gcg>Acg	p.A221T	PCED1B_ENST00000432328.1_Missense_Mutation_p.A221T|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	221							hydrolase activity (GO:0016787)	p.A221T(1)									CTTCCGCCACGCGAGGGAGAA	0.597																																																1	Substitution - Missense(1)	kidney(1)											27	21	23					12																	47629507		2201	4297	6498	SO:0001583	missense	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.661G>A	12.37:g.47629507G>A	ENSP00000446688:p.Ala221Thr		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098704	0.37048	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T;T	0.18174	2.23;2.23;2.23	4.15	2.18	0.27775	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.534632	0.17084	N	0.187651	T	0.13200	0.0320	L	0.42245	1.32	0.09310	N	1	P	0.35208	0.49	B	0.33690	0.168	T	0.14587	-1.0467	10	0.51188	T	0.08	-18.2071	6.533	0.22338	0.1035:0.0:0.7039:0.1926	.	221	Q96HM7	F113B_HUMAN	T	221;221;101;101	ENSP00000446688:A221T;ENSP00000396040:A221T;ENSP00000448693:A101T	ENSP00000328560:A101T	A	+	1	0	FAM113B	45915774	0.006000	0.16342	0.009000	0.14445	0.016000	0.09150	1.319000	0.33655	0.596000	0.29794	0.655000	0.94253	GCG		0.597	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		A	47629507	G	A	47629507	3	1	185	1	0	0	0	0	1	0	0	0	5404	1087	38	1	663	1	FAM113B	12	47629507	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08		47629507	86222388	26	11600											
KRT83	3889	hgsc.bcm.edu	37	12	52711741	52711743	+	In_Frame_Del	DEL	CTT	CTT	-	rs77331319|rs149269323	byFrequency	TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr12:52711741_52711743delCTT	ENST00000293670.3	-	3	667_669	c.605_607delAAG	c.(604-609)gaagta>gta	p.E202del		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	202	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGAAGTGCTACTTCTTCTTCATA	0.537														87	0.0173722	0.062	0.0058	5008	,	,		19914	0.0		0.001	False		,,,				2504	0.0				GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)											0										189,4075		7,175,1950						5.2	0.9		dbSNP_134	156	3,8249		0,3,4123	no	coding	KRT83	NM_002282.3		7,178,6073	A1A1,A1R,RR		0.0364,4.4325,1.534				192,12324				SO:0001651	inframe_deletion	3889			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.605_607delAAG	12.37:g.52711747_52711749delCTT	ENSP00000293670:p.Glu202del		A1A4S9|B2RC21|Q6NT21|Q9NSB3	In_Frame_Del	DEL	ENST00000293670.3	37	CCDS8823.1																																																																																				0.537	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		-	52711743	CTT	-	52711741	7	5	185	1	0	1	0	1	0	0	0	0	8499	565	20	0	902	0	KRT83	12	52711741	In_Frame_Del	DEL	CTT	TCGA-B0-5100-01A-01D-1421-08	5082234	52711741	81140154	27	11601											
CNOT2	4848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	70723321	70723321	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr12:70723321G>T	ENST00000418359.3	+	6	808	c.357G>T	c.(355-357)atG>atT	p.M119I	CNOT2_ENST00000229195.3_Missense_Mutation_p.M119I|CNOT2_ENST00000548230.1_3'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	119					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.M119I(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TACCAACAATGTCACTTCACA	0.423																																																1	Substitution - Missense(1)	kidney(1)											139	126	130					12																	70723321		2203	4300	6503	SO:0001583	missense	4848			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.357G>T	12.37:g.70723321G>T	ENSP00000412091:p.Met119Ile		Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490501	0.26686	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000552915;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.42900	0.96;0.96;0.98;0.96	5.5	5.5	0.81552	.	0.117425	0.85682	D	0.000000	T	0.29355	0.0731	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07673	-1.0760	10	0.18276	T	0.48	-4.8912	19.4076	0.94655	0.0:0.0:1.0:0.0	.	119	Q9NZN8	CNOT2_HUMAN	I	119;119;119;119;99;110;119;119;34;119	ENSP00000229195:M119I;ENSP00000412091:M119I;ENSP00000449659:M110I;ENSP00000449260:M119I	ENSP00000229195:M119I	M	+	3	0	CNOT2	69009588	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.564000	0.82326	2.586000	0.87340	0.460000	0.39030	ATG		0.423	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			T	70723321	G	T	70723321	3	4	185	1	0	0	0	0	1	0	0	0	3621	1377	48	4	371	4	CNOT2	12	70723321	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08	18011580	70723321	63128574	28	11602											
PCDH20	64881	broad.mit.edu;ucsc.edu	37	13	61986058	61986058	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr13:61986058G>A	ENST00000409186.1	-	5	4279	c.2174C>T	c.(2173-2175)aCa>aTa	p.T725I	PCDH20_ENST00000409204.4_Missense_Mutation_p.T725I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	725	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)|poly(A) RNA binding (GO:0044822)	p.T725I(1)|p.T698I(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GATTTTTGCTGTAGAGGAGAG	0.443																																																2	Substitution - Missense(2)	kidney(2)											112	117	115					13																	61986058		2203	4300	6503	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2174C>T	13.37:g.61986058G>A	ENSP00000386653:p.Thr725Ile		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	9.940	1.217167	0.22373	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.02890	4.12;4.12	5.94	5.09	0.68999	.	0.087176	0.49916	D	0.000135	T	0.05731	0.0150	M	0.68728	2.09	0.44728	D	0.997721	B	0.06786	0.001	B	0.10450	0.005	T	0.10590	-1.0623	10	0.62326	D	0.03	.	14.5548	0.68094	0.0696:0.0:0.9304:0.0	.	725	A8K1K9	.	I	725;725;471	ENSP00000387250:T725I;ENSP00000386653:T725I	ENSP00000351500:T471I	T	-	2	0	PCDH20	60884059	1.000000	0.71417	0.905000	0.35620	0.974000	0.67602	5.071000	0.64382	2.812000	0.96745	0.557000	0.71058	ACA		0.443	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		A	61986058	G	A	61986058	3	1	185	1	0	0	0	0	1	0	0	0	11517	1377	48	2	685	2	PCDH20	13	61986058	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08		61986058	53183820	29	11603											
FERMT2	10979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	53339598	53339598	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr14:53339598T>A	ENST00000395631.2	-	10	1408	c.1192A>T	c.(1192-1194)Acc>Tcc	p.T398S	FERMT2_ENST00000399304.3_Missense_Mutation_p.T398S|FERMT2_ENST00000341590.3_Missense_Mutation_p.T398S|FERMT2_ENST00000343279.4_Missense_Mutation_p.T398S|FERMT2_ENST00000553373.1_Missense_Mutation_p.T398S			Q96AC1	FERM2_HUMAN	fermitin family member 2	398	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.T398S(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TCTTTGAAGGTGCACCAATAT	0.408																																																1	Substitution - Missense(1)	kidney(1)											198	171	180					14																	53339598		2203	4300	6503	SO:0001583	missense	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1192A>T	14.37:g.53339598T>A	ENSP00000378993:p.Thr398Ser		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765877	0.49574	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.95	5.95	0.96441	Band 4.1 domain (1);FERM central domain (2);Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	N	0.22421	0.69	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.16722	0.016;0.015;0.015	T	0.57631	-0.7778	10	0.15952	T	0.53	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	398;398;398	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	S	398;398;351;398;398;398	ENSP00000378993:T398S;ENSP00000340391:T398S;ENSP00000450741:T351S;ENSP00000342858:T398S;ENSP00000451084:T398S;ENSP00000382243:T398S	ENSP00000340391:T398S	T	-	1	0	FERMT2	52409348	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.207000	0.72159	2.281000	0.76405	0.528000	0.53228	ACC		0.408	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		A	53339598	T	A	53339598	3	1	185	1	0	0	0	0	1	0	0	0	5820	1696	59	5	911	5	FERMT2	14	53339598	Missense_Mutation	SNP	T	TCGA-B0-5100-01A-01D-1421-08		53339598	54009942	30	11604											
CYP11A1	1583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	74636237	74636237	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr15:74636237A>G	ENST00000268053.6	-	4	876	c.722T>C	c.(721-723)tTc>tCc	p.F241S	CYP11A1_ENST00000358632.4_Missense_Mutation_p.F83S|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Missense_Mutation_p.F83S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	241					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.F241S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GCTGGTGTGGAACATCTGGTA	0.562																																					Esophageal Squamous(87;818 1337 4093 9268 37314)											1	Substitution - Missense(1)	kidney(1)											162	149	154					15																	74636237		2197	4296	6493	SO:0001583	missense	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.722T>C	15.37:g.74636237A>G	ENSP00000268053:p.Phe241Ser		A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	CCDS32291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.65|18.65	3.670406|3.670406	0.67814|0.67814	.|.	.|.	ENSG00000140459|ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547|ENST00000452422	T;T;T|.	0.69561|.	-0.41;-0.41;-0.41|.	4.33|4.33	3.19|3.19	0.36642|0.36642	.|.	0.050184|.	0.85682|.	N|.	0.000000|.	T|T	0.75155|0.75155	0.3811|0.3811	M|M	0.87097|0.87097	2.86|2.86	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.75260|0.75260	-0.3380|-0.3380	10|6	0.87932|0.56958	D|D	0|0.05	-20.1281|-20.1281	9.3453|9.3453	0.38104|0.38104	0.9125:0.0:0.0875:0.0|0.9125:0.0:0.0875:0.0	.|.	211;241|.	B4DTE5;P05108|.	.;CP11A_HUMAN|.	S|P	241;83;83;153|7	ENSP00000268053:F241S;ENSP00000351455:F83S;ENSP00000405488:F83S|.	ENSP00000268053:F241S|ENSP00000391041:S7P	F|S	-|-	2|1	0|0	CYP11A1|CYP11A1	72423290|72423290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.722000|0.722000	0.41435|0.41435	8.511000|8.511000	0.90535|0.90535	0.552000|0.552000	0.29026|0.29026	-0.416000|-0.416000	0.06073|0.06073	TTC|TCC		0.562	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			G	74636237	A	G	74636237	3	3	185	1	0	0	0	0	1	0	0	0	4146	246	9	3	867	3	CYP11A1	15	74636237	Missense_Mutation	SNP	A	TCGA-B0-5100-01A-01D-1421-08		74636237	27895155	31	11605											
CORO7	79585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4405287	4405287	+	Splice_Site	SNP	C	C	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr16:4405287C>A	ENST00000251166.4	-	27	2917	c.2772G>T	c.(2770-2772)tgG>tgT	p.W924C	CORO7-PAM16_ENST00000572467.1_Splice_Site_p.W924C|CORO7_ENST00000574025.1_Splice_Site_p.W839C|PAM16_ENST00000576217.1_Intron|CORO7_ENST00000537233.2_Splice_Site_p.W906C|CORO7_ENST00000539968.1_Splice_Site_p.W704C|CORO7-PAM16_ENST00000572274.1_5'UTR	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	924					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.W924C(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CACTACTCACCCACTCGTCCT	0.657																																																1	Substitution - Missense(1)	kidney(1)											79	62	68					16																	4405287		2197	4299	6496	SO:0001630	splice_region_variant	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2772+1G>T	16.37:g.4405287C>A			B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458677	0.84317	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.81330	-1.48;-1.39	4.96	4.96	0.65561	.	1.094420	0.06985	N	0.820613	D	0.91102	0.7199	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.999	D	0.85220	0.1026	9	.	.	.	-11.7983	17.7949	0.88567	0.0:1.0:0.0:0.0	.	839;906;924;905	P57737-2;B4DFD6;P57737;B4DKU9	.;.;CORO7_HUMAN;.	C	924;839;704	ENSP00000251166:W924C;ENSP00000446221:W704C	.	W	-	3	0	CORO7	4345288	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.169000	0.77578	2.297000	0.77311	0.591000	0.81541	TGG		0.657	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535	Missense_Mutation	A	4405287	C	A	4405287	5	1	185	1	0	0	0	0	0	0	1	0	3761	637	22	4	13	4	CORO7	16	4405287	Splice_Site	SNP	C	TCGA-B0-5100-01A-01D-1421-08		4405287	85949466	32	11606											
KRTAP4-2	85291	broad.mit.edu;hgsc.bcm.edu	37	17	39334330	39334330	+	Silent	SNP	G	G	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr17:39334330G>T	ENST00000377726.2	-	1	130	c.87C>A	c.(85-87)acC>acA	p.T29T		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	29	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)		p.T146T(1)|p.T29T(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TCCTGCAGCAGGTGGTCTGGC	0.647																																																2	Substitution - coding silent(2)	kidney(2)											59	60	59					17																	39334330		2201	4296	6497	SO:0001819	synonymous_variant	85291			AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"Keratin associated proteins"	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.87C>A	17.37:g.39334330G>T			A0JP64	Silent	SNP	ENST00000377726.2	37	CCDS11384.1																																																																																				0.647	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			T	39334330	G	T	39334330	2	4	185	1	0	0	0	0	0	0	0	1	8553	987	35	4		4	KRTAP4-2	17	39334330	Silent	SNP	G	TCGA-B0-5100-01A-01D-1421-08		39334330	41860880	33	11607											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38949888	38949888	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr19:38949888G>A	ENST00000359596.3	+	19	2270	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	RYR1_ENST00000355481.4_Missense_Mutation_p.R757H|RYR1_ENST00000360985.3_Missense_Mutation_p.R757H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	757	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R757H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATCTCCTTCCGCATCAACGGC	0.612																																																1	Substitution - Missense(1)	kidney(1)											119	96	104					19																	38949888		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2270G>A	19.37:g.38949888G>A	ENSP00000352608:p.Arg757His		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	18.79	3.699825	0.68501	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.69306	-0.39;-0.39;-0.39	4.36	4.36	0.52297	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000002	T	0.79764	0.4502	M	0.64567	1.98	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.82460	-0.0446	10	0.72032	D	0.01	.	16.6928	0.85326	0.0:0.0:1.0:0.0	.	757;757	P21817-2;P21817	.;RYR1_HUMAN	H	757	ENSP00000352608:R757H;ENSP00000347667:R757H;ENSP00000354254:R757H	ENSP00000347667:R757H	R	+	2	0	RYR1	43641728	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.657000	0.98554	2.251000	0.74343	0.457000	0.33378	CGC		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38949888	G	A	38949888	3	1	185	1	0	0	0	0	1	0	0	0	13774	1087	38	1	2344	1	RYR1	19	38949888	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08		38949888	20179095	34	11608											
PCSK2	5126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	17462428	17462428	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr20:17462428G>A	ENST00000262545.2	+	12	1945	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N	PCSK2_ENST00000377899.1_Missense_Mutation_p.D525N|PCSK2_ENST00000536609.1_Missense_Mutation_p.D509N|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	544					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D544N(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAGGGATGACGACTCCAAGGT	0.577																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											86	70	75					20																	17462428		2203	4300	6503	SO:0001583	missense	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1630G>A	20.37:g.17462428G>A	ENSP00000262545:p.Asp544Asn		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046013	0.93685	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.63913	-0.07;-0.07;-0.07	5.63	5.63	0.86233	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	M	0.69248	2.105	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.635	D;D;B	0.97110	1.0;1.0;0.362	T	0.77461	-0.2579	10	0.49607	T	0.09	-49.3395	18.6061	0.91266	0.0:0.0:1.0:0.0	.	509;525;544	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	N	525;544;509	ENSP00000367131:D525N;ENSP00000262545:D544N;ENSP00000437458:D509N	ENSP00000262545:D544N	D	+	1	0	PCSK2	17410428	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	9.773000	0.98989	2.803000	0.96430	0.585000	0.79938	GAC		0.577	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		A	17462428	G	A	17462428	3	1	185	1	0	0	0	0	1	0	0	0	11603	1058	37	1	1676	1	PCSK2	20	17462428	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08		17462428	45563092	35	11609											
KLF8	11279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	56310908	56310908	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chrX:56310908G>A	ENST00000468660.1	+	6	1349	c.1061G>A	c.(1060-1062)cGt>cAt	p.R354H	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R354H(2)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CTGCATCGCCGTCGCCATGAC	0.547																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											59	48	52					X																	56310908		2203	4300	6503	SO:0001583	missense	11279			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.1061G>A	X.37:g.56310908G>A	ENSP00000417303:p.Arg354His		B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795820	0.70452	.	.	ENSG00000102349	ENST00000468660	T	0.71934	-0.61	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	D	0.82370	0.5022	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85008	0.0904	10	0.87932	D	0	.	13.3786	0.60754	0.0:0.0:1.0:0.0	.	354	O95600	KLF8_HUMAN	H	354	ENSP00000417303:R354H	ENSP00000417303:R354H	R	+	2	0	KLF8	56327633	0.998000	0.40836	0.997000	0.53966	0.745000	0.42441	4.259000	0.58828	1.938000	0.56188	0.597000	0.82753	CGT		0.547	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		A	56310908	G	A	56310908	3	1	185	1	0	0	0	0	1	0	0	0	8354	1145	40	1	1083	1	KLF8	23	56310908	Missense_Mutation	SNP	G	TCGA-B0-5100-01A-01D-1421-08		56310908	98959652	36	11610											
SLC25A33	84275	broad.mit.edu;hgsc.bcm.edu	37	1	9642417	9642417	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:9642417C>T	ENST00000302692.6	+	7	1034	c.824C>T	c.(823-825)gCg>gTg	p.A275V		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	275					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.A275V(1)		endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCAGACGGCGCGCCTGGTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											70	70	70					1																	9642417		2203	4300	6503	SO:0001583	missense	84275			AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"Solute carriers"	29681	protein-coding gene	gene with protein product		610816	"solute carrier family 25, member 33"			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.824C>T	1.37:g.9642417C>T	ENSP00000306328:p.Ala275Val			Missense_Mutation	SNP	ENST00000302692.6	37	CCDS103.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290714	0.59976	.	.	ENSG00000171612	ENST00000302692	T	0.78126	-1.15	5.54	5.54	0.83059	Mitochondrial carrier domain (2);	0.226564	0.45126	D	0.000384	T	0.62720	0.2451	N	0.25957	0.775	0.50313	D	0.999862	B	0.33379	0.41	B	0.29942	0.109	T	0.59679	-0.7409	10	0.16420	T	0.52	-12.5406	12.2112	0.54381	0.0:0.9224:0.0:0.0776	.	275	Q9BSK2	S2533_HUMAN	V	275	ENSP00000306328:A275V	ENSP00000306328:A275V	A	+	2	0	SLC25A33	9565004	1.000000	0.71417	0.969000	0.41365	0.988000	0.76386	4.182000	0.58310	2.767000	0.95098	0.555000	0.69702	GCG		0.498	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		T	9642417	C	T	9642417	3	4	186	1	0	0	0	0	1	0	0	0	14503	768	27	1	850	1	SLC25A33	1	9642417	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08		9642417	239608204	1	11611											
ARID1A	8289	hgsc.bcm.edu	37	1	27087419	27087420	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	GG	GG	GG	-	GG	GG	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:27087419_27087420delGG	ENST00000324856.7	+	5	2364_2365	c.1993_1994delGG	c.(1993-1995)gggfs	p.G665fs	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G665fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G282fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	665					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAGCACATCAGGGATTTCCAGC	0.52			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0																																										SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1993_1994delGG	1.37:g.27087419_27087420delGG	ENSP00000320485:p.Gly665fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																				0.52	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		-	27087420	GG	-	27087419	7	5	186	1	0	1	0	1	0	0	0	0	913	1000	35	0	2011	0	ARID1A	1	27087419	Frame_Shift_Del	DEL	GG	TCGA-B0-5102-01A-01D-1421-08	17445002	27087419	222163202	2	11612											
PHACTR4	65979	broad.mit.edu	37	1	28802704	28802704	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:28802704C>T	ENST00000373839.3	+	8	1768	c.1507C>T	c.(1507-1509)Cca>Tca	p.P503S	PHACTR4_ENST00000373836.3_Missense_Mutation_p.P513S|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	503					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P513S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTAAATTACCACAGTGTCT	0.433																																																1	Substitution - Missense(1)	kidney(1)											87	83	84					1																	28802704		1977	4162	6139	SO:0001583	missense	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1507C>T	1.37:g.28802704C>T	ENSP00000362945:p.Pro503Ser		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070257	0.55539	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.25912	1.77;1.77	5.42	5.42	0.78866	.	0.489196	0.19856	N	0.104539	T	0.44767	0.1309	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.71674	0.991;0.998	P;P	0.58520	0.815;0.84	T	0.08743	-1.0707	10	0.27785	T	0.31	-4.1937	18.5582	0.91092	0.0:1.0:0.0:0.0	.	513;503	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	S	503;513;502	ENSP00000362945:P503S;ENSP00000362942:P513S	ENSP00000362942:P513S	P	+	1	0	PHACTR4	28675291	0.907000	0.30839	0.767000	0.31495	0.191000	0.23601	2.202000	0.42743	2.704000	0.92352	0.655000	0.94253	CCA		0.433	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		T	28802704	C	T	28802704	3	4	186	1	0	0	0	0	1	0	0	0	11814	507	18	2	1583	2	PHACTR4	1	28802704	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08	1715285	28802704	220447917	3	11613											
VCAM1	7412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	101200121	101200121	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:101200121T>G	ENST00000294728.2	+	8	1957	c.1856T>G	c.(1855-1857)gTc>gGc	p.V619G	VCAM1_ENST00000370115.1_Missense_Mutation_p.V420G|VCAM1_ENST00000347652.2_Missense_Mutation_p.V527G|VCAM1_ENST00000370119.4_Missense_Mutation_p.V557G	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	619	Ig-like C2-type 7.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.V619G(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGAGACACTGTCATCATCTCT	0.388																																																1	Substitution - Missense(1)	kidney(1)											67	69	68					1																	101200121		2203	4300	6503	SO:0001583	missense	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1856T>G	1.37:g.101200121T>G	ENSP00000294728:p.Val619Gly		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.143122	0.77888	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.87	5.87	0.94306	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.161614	0.56097	D	0.000031	T	0.65811	0.2727	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.996;0.999	T	0.74147	-0.3759	10	0.87932	D	0	-17.3734	15.1469	0.72662	0.0:0.0:0.0:1.0	.	557;527;619	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	G	557;527;619;420	ENSP00000359137:V557G;ENSP00000304611:V527G;ENSP00000294728:V619G;ENSP00000359133:V420G	ENSP00000294728:V619G	V	+	2	0	VCAM1	100972709	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.424000	0.52764	2.371000	0.80710	0.533000	0.62120	GTC		0.388	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		G	101200121	T	G	101200121	3	3	186	1	0	0	0	0	1	0	0	0	17142	1667	58	5	1886	5	VCAM1	1	101200121	Missense_Mutation	SNP	T	TCGA-B0-5102-01A-01D-1421-08	72397417	101200121	148050500	4	11614											
EFNA3	1944	hgsc.bcm.edu	37	1	155057646	155057657	+	In_Frame_Del	DEL	GGGGTGGGCCCC	GGGGTGGGCCCC	-	rs139404791|rs71576043|rs145094848|rs199552063	byFrequency	TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	GGGGTGGGCCCC	GGGGTGGGCCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:155057646_155057657delGGGGTGGGCCCC	ENST00000368408.3	+	2	278_289	c.208_219delGGGGTGGGCCCC	c.(208-219)ggggtgggccccdel	p.GVGP70del	EFNA3_ENST00000556931.1_In_Frame_Del_p.GVGP65del|EFNA3_ENST00000505139.1_In_Frame_Del_p.GVGP65del|EFNA3_ENST00000418360.2_In_Frame_Del_p.GVGP70del	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	70	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAACAGCTCGGGGGTgggccccggggcgggac	0.665														75	0.014976	0.0008	0.0231	5008	,	,		14542	0.0		0.0179	False		,,,				2504	0.0409															0										23,4163		2,19,2072						-2.1	1		dbSNP_130	30	146,8000		14,118,3941	no	coding	EFNA3	NM_004952.4		16,137,6013	A1A1,A1R,RR		1.7923,0.5495,1.3704				169,12163				SO:0001651	inframe_deletion	1944			BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"Ephrins"	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.208_219delGGGGTGGGCCCC	1.37:g.155057646_155057657delGGGGTGGGCCCC	ENSP00000357393:p.Gly70_Pro73del		B7ZAD3|D3DV85|Q0VGC9|Q5SR70	In_Frame_Del	DEL	ENST00000368408.3	37	CCDS1090.1																																																																																				0.665	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		-	155057657	GGGGTGGGCCCC	-	155057646	7	5	186	1	0	1	0	1	0	0	0	0	4954	1232	43	0	214	0	EFNA3	1	155057646	In_Frame_Del	DEL	GGGGTGGGCCCC	TCGA-B0-5102-01A-01D-1421-08	53857525	155057646	94192975	5	11615											
CR1	1378	broad.mit.edu;hgsc.bcm.edu	37	1	207700214	207700214	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:207700214G>C	ENST00000367049.4	+	6	1003	c.1003G>C	c.(1003-1005)Gct>Cct	p.A335P	CR1_ENST00000400960.2_Missense_Mutation_p.A335P|CR1_ENST00000367051.1_Intron|CR1_ENST00000367050.4_Intron|CR1_ENST00000367052.1_Missense_Mutation_p.A335P|CR1_ENST00000367053.1_Missense_Mutation_p.A335P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	335	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.A335P(1)|p.A340P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCTCAGAGGGGCTGCGTCTAT	0.557																																																2	Substitution - Missense(2)	kidney(2)											32	47	44					1																	207700214		1033	3531	4564	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.1003G>C	1.37:g.207700214G>C	ENSP00000356016:p.Ala335Pro		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327881	0.24080	.	.	ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	3.73	-1.3	0.09259	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.58977	0.2160	L	0.28694	0.88	0.09310	N	1	D;P;P	0.89917	1.0;0.592;0.592	D;B;B	0.85130	0.997;0.112;0.112	T	0.48937	-0.8990	9	0.28530	T	0.3	.	1.6102	0.02692	0.2155:0.1593:0.4633:0.1619	.	335;335;335	E9PQN4;P17927;E9PDY4	.;CR1_HUMAN;.	P	335	ENSP00000356019:A335P;ENSP00000356020:A335P;ENSP00000383744:A335P;ENSP00000356016:A335P	ENSP00000356016:A335P	A	+	1	0	CR1	205766837	0.063000	0.20901	0.002000	0.10522	0.104000	0.19210	0.149000	0.16243	-0.110000	0.12022	-0.300000	0.09419	GCT		0.557	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		C	207700214	G	C	207700214	3	2	186	1	0	0	0	0	1	0	0	0	3842	1203	42	4	1025	4	CR1	1	207700214	Missense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08	52642568	207700214	41550407	6	11616											
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152529113	152529113	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr2:152529113G>T	ENST00000172853.10	-	37	4216	c.4069C>A	c.(4069-4071)Cac>Aac	p.H1357N	NEB_ENST00000603639.1_Missense_Mutation_p.H1357N|NEB_ENST00000427231.2_Missense_Mutation_p.H1357N|NEB_ENST00000604864.1_Missense_Mutation_p.H1357N|NEB_ENST00000397345.3_Missense_Mutation_p.H1357N|NEB_ENST00000409198.1_Missense_Mutation_p.H1357N			P20929	NEBU_HUMAN	nebulin	1357					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.H1357N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCATATAGTGGACCAGCTTG	0.458																																																2	Substitution - Missense(2)	kidney(2)											131	126	128					2																	152529113		1927	4132	6059	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4069C>A	2.37:g.152529113G>T	ENSP00000172853:p.His1357Asn		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	22.6	4.314564	0.81358	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.78643	-0.2124	10	0.41790	T	0.15	.	15.0068	0.71519	0.0696:0.0:0.9304:0.0	.	1357	P20929	NEBU_HUMAN	N	1357	ENSP00000386259:H1357N;ENSP00000380505:H1357N;ENSP00000416578:H1357N;ENSP00000172853:H1357N	ENSP00000172853:H1357N	H	-	1	0	NEB	152237359	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.764000	0.68826	2.712000	0.92718	0.650000	0.86243	CAC		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152529113	G	T	152529113	3	4	186	1	0	0	0	0	1	0	0	0	10304	1348	47	4	22201	4	NEB	2	152529113	Missense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08		152529113	90670260	7	11617											
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq;PacBio			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7	11	9					3																	10183725		2133	4211	6344	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>A	3.37:g.10183725C>A	ENSP00000256474:p.Ser65*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576281	0.86645	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.54	4.67	0.58626	.	0.055860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	rs5030826	.	.	.	X	65	.	ENSP00000256474:S65X	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183725	C	A	10183725	4	1	186	1	0	0	0	0	0	1	0	0	17167	893	31	4	196	4	VHL	3	10183725	Nonsense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08		10183725	187838705	8	11618											
SLITRK3	22865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	164905805	164905805	+	Silent	SNP	C	C	G	rs145516007	byFrequency	TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr3:164905805C>G	ENST00000475390.1	-	2	3257	c.2814G>C	c.(2812-2814)tcG>tcC	p.S938S	SLITRK3_ENST00000241274.3_Silent_p.S938S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	938					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S938S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTTCCAGCCGAGAAGAGAA	0.502										HNSCC(40;0.11)																																						1	Substitution - coding silent(1)	kidney(1)											175	174	174					3																	164905805		2203	4300	6503	SO:0001819	synonymous_variant	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2814G>C	3.37:g.164905805C>G			Q1RMY6	Silent	SNP	ENST00000475390.1	37	CCDS3197.1																																																																																				0.502	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		G	164905805	C	G	164905805	2	3	186	1	0	0	0	0	0	0	0	1	14750	639	23	4		4	SLITRK3	3	164905805	Silent	SNP	C	TCGA-B0-5102-01A-01D-1421-08	154722080	164905805	33116625	9	11619											
SERPINI1	5274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167508254	167508254	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr3:167508254A>C	ENST00000295777.5	+	3	776	c.345A>C	c.(343-345)caA>caC	p.Q115H	SERPINI1_ENST00000446050.2_Missense_Mutation_p.Q115H	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	115					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q115H(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGTTTGTGCAAAATGGATTTC	0.348																																																1	Substitution - Missense(1)	kidney(1)											92	96	95					3																	167508254		2203	4300	6503	SO:0001583	missense	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.345A>C	3.37:g.167508254A>C	ENSP00000295777:p.Gln115His		A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726717	0.69074	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;T;T;T	0.88046	-2.33;-0.88;-0.88;-0.88	5.63	2.0	0.26442	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.88938	0.3378	10	0.87932	D	0	.	8.4806	0.33040	0.538:0.0:0.462:0.0	.	115	Q99574	NEUS_HUMAN	H	115	ENSP00000420133:Q115H;ENSP00000397373:Q115H;ENSP00000295777:Q115H;ENSP00000420561:Q115H	ENSP00000295777:Q115H	Q	+	3	2	SERPINI1	168990948	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.623000	0.37008	0.111000	0.17947	-0.263000	0.10527	CAA		0.348	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			C	167508254	A	C	167508254	3	2	186	1	0	0	0	0	1	0	0	0	14124	11	1	5	351	5	SERPINI1	3	167508254	Missense_Mutation	SNP	A	TCGA-B0-5102-01A-01D-1421-08	2602449	167508254	30514176	10	11620											
TMEM155	132332	hgsc.bcm.edu;ucsc.edu	37	4	122682726	122682726	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr4:122682726delA	ENST00000337677.5	-	5	737	c.179delT	c.(178-180)ttgfs	p.L60fs	TMEM155_ENST00000394396.1_Frame_Shift_Del_p.L60fs|TMEM155_ENST00000394394.1_Frame_Shift_Del_p.L60fs	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	60						extracellular region (GO:0005576)				breast(1)|lung(5)	6						CAAGCGAACCAAAAACAAATC	0.388																																																0													64	67	66					4																	122682726		2203	4300	6503	SO:0001589	frameshift_variant	132332			AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.179delT	4.37:g.122682726delA	ENSP00000336987:p.Leu60fs		D3DNW9|Q96NI2	Frame_Shift_Del	DEL	ENST00000337677.5	37	CCDS3721.1																																																																																				0.388	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		-	122682726	A	-	122682726	7	5	186	1	0	1	0	1	0	0	0	0	16077	131	5	0	221	0	TMEM155	4	122682726	Frame_Shift_Del	DEL	A	TCGA-B0-5102-01A-01D-1421-08		122682726	68471550	11	11621											
FBXW7	55294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	153332528	153332528	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr4:153332528A>T	ENST00000281708.4	-	2	1657	c.428T>A	c.(427-429)gTc>gAc	p.V143D	FBXW7_ENST00000603548.1_Missense_Mutation_p.V143D|FBXW7_ENST00000603841.1_Missense_Mutation_p.V143D|FBXW7_ENST00000604872.1_Missense_Mutation_p.V143D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	143					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.V143D(2)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GGAGTTCGTGACACTGTTAGT	0.428			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	2	Substitution - Missense(2)	kidney(2)											285	205	232					4																	153332528		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.428T>A	4.37:g.153332528A>T	ENSP00000281708:p.Val143Asp		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207137	0.58343	.	.	ENSG00000109670	ENST00000281708	T	0.54866	0.55	5.54	5.54	0.83059	.	1.504730	0.03586	N	0.230998	T	0.47469	0.1447	N	0.14661	0.345	0.80722	D	1	P	0.36733	0.567	B	0.39185	0.293	T	0.10567	-1.0624	10	0.46703	T	0.11	-0.4692	15.6888	0.77434	1.0:0.0:0.0:0.0	.	143	Q969H0	FBXW7_HUMAN	D	143	ENSP00000281708:V143D	ENSP00000281708:V143D	V	-	2	0	FBXW7	153551978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.114000	0.64651	0.528000	0.53228	GTC		0.428	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			T	153332528	A	T	153332528	3	4	186	1	0	0	0	0	1	0	0	0	5771	275	10	5	2155	5	FBXW7	4	153332528	Missense_Mutation	SNP	A	TCGA-B0-5102-01A-01D-1421-08	30649802	153332528	37821748	12	11622											
C4orf41	60684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	184585186	184585186	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr4:184585186C>T	ENST00000334690.6	+	2	368	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.L56F	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	56					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.L56F(1)									TTTCAAGGTGCTCCCAGGTGA	0.478																																																1	Substitution - Missense(1)	kidney(1)											148	142	144					4																	184585186		2203	4300	6503	SO:0001583	missense	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.166C>T	4.37:g.184585186C>T	ENSP00000335371:p.Leu56Phe		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615559	0.87359	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	6.03	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	L	0.41356	1.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.982;0.988	T	0.63184	-0.6694	9	0.25751	T	0.34	.	14.7095	0.69218	0.0:0.9304:0.0:0.0696	.	56;56	Q7Z392;Q7Z392-3	TPC11_HUMAN;.	F	56	.	ENSP00000335371:L56F	L	+	1	0	C4orf41	184822180	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.801000	0.69115	1.545000	0.49373	0.655000	0.94253	CTC		0.478	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		T	184585186	C	T	184585186	3	4	186	1	0	0	0	0	1	0	0	0	2272	797	28	2	168	2	C4orf41	4	184585186	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08	31252658	184585186	6569090	13	11623											
ALDH7A1	501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	125891622	125891622	+	Splice_Site	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr5:125891622C>T	ENST00000409134.3	-	12	1313		c.e12+1		ALDH7A1_ENST00000447989.2_Intron|ALDH7A1_ENST00000553117.1_Intron|RNU6-963P_ENST00000363477.1_RNA	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1						cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)	p.?(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		GAGATACTCACGGTCCCATGG	0.413																																																1	Unknown(1)	kidney(1)											97	95	96					5																	125891622		2203	4300	6503	SO:0001630	splice_region_variant	501			S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"Aldehyde dehydrogenases"	877	protein-coding gene	gene with protein product	"antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase"	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1093+1G>A	5.37:g.125891622C>T			B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Splice_Site	SNP	ENST00000409134.3	37	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	C	8.100	0.776533	0.16120	.	.	ENSG00000164904	ENST00000409134;ENST00000437170	.	.	.	4.99	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5246	0.61586	0.0:0.9231:0.0:0.0769	.	.	.	.	.	-1	.	.	.	-	.	.	ALDH7A1	125919521	1.000000	0.71417	0.997000	0.53966	0.022000	0.10575	4.498000	0.60373	1.244000	0.43870	-0.137000	0.14449	.		0.413	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182	Intron	T	125891622	C	T	125891622	5	4	186	1	0	0	0	0	0	0	1	0	504	550	19	1	553	1	ALDH7A1	5	125891622	Splice_Site	SNP	C	TCGA-B0-5102-01A-01D-1421-08		125891622	55023638	14	11624											
PCDHA5	56143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140202183	140202183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr5:140202183G>T	ENST00000529859.1	+	1	823	c.823G>T	c.(823-825)Gaa>Taa	p.E275*	PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.E275*|PCDHA5_ENST00000378126.3_Nonsense_Mutation_p.E275*|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E275*(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAATAAGGAAATAGTGTA	0.328																																																2	Substitution - Nonsense(2)	kidney(2)											43	45	44					5																	140202183		2203	4298	6501	SO:0001587	stop_gained	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.823G>T	5.37:g.140202183G>T	ENSP00000436557:p.Glu275*		O75284|Q8N4R3	Nonsense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026373	0.75390	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.7192	0.85406	0.0:0.0:1.0:0.0	.	.	.	.	X	275	.	ENSP00000367366:E275X	E	+	1	0	PCDHA5	140182367	0.911000	0.30947	0.933000	0.37362	0.399000	0.30720	2.429000	0.44758	1.995000	0.58328	0.655000	0.94253	GAA		0.328	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		T	140202183	G	T	140202183	4	4	186	1	0	0	0	0	0	1	0	0	11529	1175	41	4	825	4	PCDHA5	5	140202183	Nonsense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08	14310561	140202183	40713077	15	11625											
PCDHAC2	56134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140347848	140347848	+	Silent	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr5:140347848G>A	ENST00000289269.5	+	1	2029	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K	PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	499	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K499K(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATGAAAAGGAGAATGCAG	0.507																																					Melanoma(190;638 2083 3390 11909 52360)											1	Substitution - coding silent(1)	kidney(1)											119	113	115					5																	140347848		2203	4300	6503	SO:0001819	synonymous_variant	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1497G>A	5.37:g.140347848G>A			Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	CCDS4242.1																																																																																				0.507	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		A	140347848	G	A	140347848	2	1	186	1	0	0	0	0	0	0	0	1	11535	991	35	2		2	PCDHAC2	5	140347848	Silent	SNP	G	TCGA-B0-5102-01A-01D-1421-08	145665	140347848	40567412	16	11626											
PCDHB10	56126	broad.mit.edu;hgsc.bcm.edu	37	5	140573503	140573503	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr5:140573503G>T	ENST00000239446.4	+	1	1562	c.1378G>T	c.(1378-1380)Gtc>Ttc	p.V460F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	460	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V460F(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTGTTCGTCCGCGAGAA	0.637																																																1	Substitution - Missense(1)	kidney(1)											44	50	48					5																	140573503		2203	4290	6493	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1378G>T	5.37:g.140573503G>T	ENSP00000239446:p.Val460Phe		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	9.117	1.007962	0.19199	.	.	ENSG00000120324	ENST00000239446	T	0.57436	0.4	3.22	-1.36	0.09085	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.64057	0.2564	M	0.79123	2.44	0.09310	N	1	D	0.65815	0.995	D	0.69307	0.963	T	0.53229	-0.8468	9	0.72032	D	0.01	.	2.7858	0.05373	0.1771:0.3797:0.3148:0.1284	.	460	Q9UN67	PCDBA_HUMAN	F	460	ENSP00000239446:V460F	ENSP00000239446:V460F	V	+	1	0	PCDHB10	140553687	0.000000	0.05858	0.006000	0.13384	0.270000	0.26580	-0.534000	0.06150	-0.080000	0.12685	-1.205000	0.01647	GTC		0.637	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		T	140573503	G	T	140573503	3	4	186	1	0	0	0	0	1	0	0	0	11537	1145	40	4	1380	4	PCDHB10	5	140573503	Missense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08	225655	140573503	40341757	17	11627	89	2									
PCDHB10	56126	broad.mit.edu;hgsc.bcm.edu	37	5	140573506	140573506	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr5:140573506C>T	ENST00000239446.4	+	1	1565	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R461C(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTCCGCGAGAACAA	0.632																																																1	Substitution - Missense(1)	kidney(1)											44	50	48					5																	140573506		2203	4290	6493	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1381C>T	5.37:g.140573506C>T	ENSP00000239446:p.Arg461Cys		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	7.288	0.610515	0.14066	.	.	ENSG00000120324	ENST00000239446	T	0.01767	4.65	3.22	2.23	0.28157	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.04272	0.0118	M	0.80332	2.49	0.09310	N	1	B	0.28419	0.211	B	0.30572	0.117	T	0.11867	-1.0570	9	0.62326	D	0.03	.	11.7727	0.51968	0.1757:0.8243:0.0:0.0	.	461	Q9UN67	PCDBA_HUMAN	C	461	ENSP00000239446:R461C	ENSP00000239446:R461C	R	+	1	0	PCDHB10	140553690	0.000000	0.05858	0.081000	0.20488	0.363000	0.29612	0.121000	0.15667	1.819000	0.53055	0.549000	0.68633	CGC		0.632	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		T	140573506	C	T	140573506	3	4	186	1	0	0	0	0	1	0	0	0	11537	652	23	1	1383	1	PCDHB10	5	140573506	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08	3	140573506	40341754	18	11628	89	2									
ZBTB12	221527	broad.mit.edu;hgsc.bcm.edu	37	6	31867889	31867889	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr6:31867889C>A	ENST00000375527.2	-	2	1369	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	C2_ENST00000452323.2_5'Flank|EHMT2_ENST00000395728.3_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375537.4_5'Flank|EHMT2_ENST00000375528.4_5'Flank|EHMT2_ENST00000375530.4_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q398H(1)		endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGGTGGACTTCTGTGTGAAGC	0.607																																																1	Substitution - Missense(1)	kidney(1)											128	86	100					6																	31867889		2203	4300	6503	SO:0001583	missense	221527			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.1194G>T	6.37:g.31867889C>A	ENSP00000364677:p.Gln398His		B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655907	0.47467	.	.	ENSG00000204366	ENST00000375527	T	0.07327	3.2	3.82	2.94	0.34122	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.073075	0.56097	U	0.000032	T	0.03783	0.0107	N	0.04636	-0.2	0.38027	D	0.935059	D	0.67145	0.996	D	0.81914	0.995	T	0.50092	-0.8868	10	0.27082	T	0.32	.	7.6359	0.28266	0.0:0.7843:0.0:0.2157	.	398	Q9Y330	ZBT12_HUMAN	H	398	ENSP00000364677:Q398H	ENSP00000364677:Q398H	Q	-	3	2	ZBTB12	31975868	0.993000	0.37304	0.950000	0.38849	0.904000	0.53231	0.628000	0.24522	0.592000	0.29728	0.313000	0.20887	CAG		0.607	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		A	31867889	C	A	31867889	3	1	186	1	0	0	0	0	1	0	0	0	17530	912	32	4	189	4	ZBTB12	6	31867889	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08		31867889	139247178	19	11629											
CAPN11	11131	broad.mit.edu;hgsc.bcm.edu	37	6	44141055	44141055	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr6:44141055C>A	ENST00000398776.1	+	7	801	c.763C>A	c.(763-765)Cct>Act	p.P255T	CAPN11_ENST00000542245.1_Missense_Mutation_p.P255T	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	255	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.P255T(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCAGAGGCCCCCTCAGAACCT	0.592											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											44	48	47					6																	44141055		1935	4124	6059	SO:0001583	missense	11131			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.763C>A	6.37:g.44141055C>A	ENSP00000381758:p.Pro255Thr	921	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461094	0.63513	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.88431	-2.38;-2.38	4.36	3.49	0.39957	Peptidase C2, calpain, catalytic domain (3);	0.140597	0.33553	N	0.004797	D	0.94195	0.8137	H	0.94771	3.58	0.35680	D	0.814033	D	0.71674	0.998	D	0.65233	0.933	D	0.95345	0.8441	10	0.87932	D	0	.	12.1409	0.53996	0.0:0.9155:0.0:0.0845	.	255	Q9UMQ6	CAN11_HUMAN	T	255	ENSP00000381758:P255T;ENSP00000441078:P255T	ENSP00000381758:P255T	P	+	1	0	CAPN11	44249033	0.366000	0.25014	0.275000	0.24674	0.763000	0.43281	2.326000	0.43849	1.439000	0.47511	0.650000	0.86243	CCT		0.592	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			A	44141055	C	A	44141055	3	1	186	1	0	0	0	0	1	0	0	0	2626	623	22	4	789	4	CAPN11	6	44141055	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08	12273166	44141055	126974012	20	11630											
SENP6	26054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	76421100	76421100	+	Silent	SNP	A	A	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr6:76421100A>T	ENST00000447266.2	+	21	3355	c.2877A>T	c.(2875-2877)ggA>ggT	p.G959G	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370014.3_Silent_p.G959G|SENP6_ENST00000370010.2_Silent_p.G952G	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	959	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)	p.G959G(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CAGAAATAGGACAGTGGCATT	0.338																																																2	Substitution - coding silent(2)	kidney(2)											93	93	93					6																	76421100		1901	4119	6020	SO:0001819	synonymous_variant	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2877A>T	6.37:g.76421100A>T			A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	CCDS47454.1																																																																																				0.338	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		T	76421100	A	T	76421100	2	4	186	1	0	0	0	0	0	0	0	1	14056	262	10	5		5	SENP6	6	76421100	Silent	SNP	A	TCGA-B0-5102-01A-01D-1421-08	32280045	76421100	94693967	21	11631											
PAX4	5078	hgsc.bcm.edu;ucsc.edu	37	7	127252007	127252007	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr7:127252007delA	ENST00000341640.2	-	7	944	c.739delT	c.(739-741)tctfs	p.S247fs	PAX4_ENST00000463946.1_Frame_Shift_Del_p.S245fs|PAX4_ENST00000378740.2_Frame_Shift_Del_p.S247fs|PAX4_ENST00000338516.3_Intron	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	255					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACCTGTGCAGAGATGATTCCT	0.567																																					Ovarian(113;737 1605 7858 27720 34092)											0													64	58	60					7																	127252007		2203	4300	6503	SO:0001589	frameshift_variant	5078				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.739delT	7.37:g.127252007delA	ENSP00000339906:p.Ser247fs		O95161|Q6B0H0	Frame_Shift_Del	DEL	ENST00000341640.2	37	CCDS5797.1																																																																																				0.567	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			-	127252007	A	-	127252007	7	5	186	1	0	1	0	1	0	0	0	0	11483	304	11	0	304	0	PAX4	7	127252007	Frame_Shift_Del	DEL	A	TCGA-B0-5102-01A-01D-1421-08		127252007	31886656	22	11632											
CPA2	1358	broad.mit.edu;ucsc.edu	37	7	129916502	129916502	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr7:129916502C>T	ENST00000222481.4	+	7	675	c.620C>T	c.(619-621)aCt>aTt	p.T207I		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	207					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.T205I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCATCCATCACTTCCATTCTG	0.453																																																1	Substitution - Missense(1)	kidney(1)											240	217	225					7																	129916502		2203	4300	6503	SO:0001583	missense	1358			U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.620C>T	7.37:g.129916502C>T	ENSP00000222481:p.Thr207Ile		A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528256	0.64860	.	.	ENSG00000158516	ENST00000222481	T	0.12147	2.71	5.41	5.41	0.78517	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	M	0.91612	3.225	0.80722	D	1	D;D	0.76494	0.999;0.979	D;D	0.74348	0.983;0.919	T	0.58267	-0.7666	10	0.87932	D	0	.	18.5688	0.91128	0.0:1.0:0.0:0.0	.	205;207	B4DDX9;P48052	.;CBPA2_HUMAN	I	207	ENSP00000222481:T207I	ENSP00000222481:T207I	T	+	2	0	CPA2	129703738	0.999000	0.42202	0.881000	0.34555	0.181000	0.23173	4.503000	0.60407	2.721000	0.93114	0.655000	0.94253	ACT		0.453	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		T	129916502	C	T	129916502	3	4	186	1	0	0	0	0	1	0	0	0	3792	565	20	2	646	2	CPA2	7	129916502	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08	2664495	129916502	29222161	23	11633											
CLU	1191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27466547	27466547	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr8:27466547C>T	ENST00000316403.10	-	3	559	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	CLU_ENST00000405140.3_Missense_Mutation_p.G52R|CLU_ENST00000560366.1_Missense_Mutation_p.G104R|CLU_ENST00000546343.1_Missense_Mutation_p.G63R|CLU_ENST00000523500.1_Missense_Mutation_p.G52R			P10909	CLUS_HUMAN	clusterin	52				G -> Q (in Ref. 10; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.G104R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGTTTCACCCCGTTGACAGCA	0.443																																																1	Substitution - Missense(1)	kidney(1)											167	155	159					8																	27466547		2203	4300	6503	SO:0001583	missense	1191			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.154G>A	8.37:g.27466547C>T	ENSP00000315130:p.Gly52Arg		B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438530	0.83885	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000523589;ENST00000520796;ENST00000519742;ENST00000520491;ENST00000522413;ENST00000519472;ENST00000523396	T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.46	4.59	0.56863	Clusterin, N-terminal (1);	0.114681	0.64402	D	0.000013	T	0.54951	0.1890	M	0.77820	2.39	0.54753	D	0.999989	D;D;D	0.57571	0.975;0.975;0.98	P;P;P	0.52159	0.564;0.564;0.691	T	0.61826	-0.6983	10	0.87932	D	0	-26.5141	11.9872	0.53155	0.0:0.916:0.0:0.084	.	104;63;52	P10909-2;P10909-5;P10909	.;.;CLUS_HUMAN	R	104;63;52;52;52;52;52;52;52;52;52	ENSP00000446413:G63R;ENSP00000385419:G52R;ENSP00000429620:G52R;ENSP00000431070:G52R;ENSP00000429336:G52R;ENSP00000431026:G52R;ENSP00000429881:G52R;ENSP00000428779:G52R;ENSP00000427868:G52R;ENSP00000428526:G52R	ENSP00000315130:G104R	G	-	1	0	CLU	27522464	1.000000	0.71417	0.538000	0.28064	0.825000	0.46686	6.631000	0.74277	1.303000	0.44873	0.655000	0.94253	GGG		0.443	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		T	27466547	C	T	27466547	3	4	186	1	0	0	0	0	1	0	0	0	3570	652	23	1	1223	1	CLU	8	27466547	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08		27466547	118897475	24	11634											
CDH17	1015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	95183159	95183159	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr8:95183159G>T	ENST00000027335.3	-	8	962	c.838C>A	c.(838-840)Cca>Aca	p.P280T	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.P280T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	280	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.P280T(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGGAATCTTGGCAGCTTCTCT	0.453																																																1	Substitution - Missense(1)	kidney(1)											122	118	119					8																	95183159		2203	4300	6503	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.838C>A	8.37:g.95183159G>T	ENSP00000027335:p.Pro280Thr		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433121	0.25813	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.61980	0.06;0.06	5.95	0.721	0.18219	Cadherin (4);Cadherin-like (1);	0.116455	0.39274	N	0.001414	T	0.55210	0.1906	M	0.79258	2.445	0.09310	N	1	B	0.27910	0.193	B	0.31390	0.129	T	0.45629	-0.9248	10	0.33141	T	0.24	-1.3649	3.0521	0.06173	0.2141:0.1212:0.5401:0.1246	.	280	Q12864	CAD17_HUMAN	T	280	ENSP00000027335:P280T;ENSP00000401468:P280T	ENSP00000027335:P280T	P	-	1	0	CDH17	95252335	0.042000	0.20092	0.027000	0.17364	0.629000	0.37895	0.508000	0.22692	0.369000	0.24510	0.650000	0.86243	CCA		0.453	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		T	95183159	G	T	95183159	3	4	186	1	0	0	0	0	1	0	0	0	3104	1203	42	4	1704	4	CDH17	8	95183159	Missense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08	67716612	95183159	51180863	25	11635											
SLC30A8	169026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	118184908	118184909	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr8:118184908_118184909delCC	ENST00000456015.2	+	8	1098_1099	c.1098_1099delCC	c.(1096-1101)gaccccfs	p.P367fs	SLC30A8_ENST00000521243.1_Frame_Shift_Del_p.P318fs|SLC30A8_ENST00000519688.1_Frame_Shift_Del_p.P318fs|SLC30A8_ENST00000427715.2_Frame_Shift_Del_p.P318fs	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	367					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCTGTGAAGACCCCTGTGACTA	0.46																																					Ovarian(162;1202 1922 6011 16223 52092)											0																																										SO:0001589	frameshift_variant	169026				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.1098_1099delCC	8.37:g.118184910_118184911delCC	ENSP00000415011:p.Pro367fs		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Frame_Shift_Del	DEL	ENST00000456015.2	37	CCDS6322.1																																																																																				0.46	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		-	118184909	CC	-	118184908	7	5	186	1	0	1	0	1	0	0	0	0	14567	506	18	0	1128	0	SLC30A8	8	118184908	Frame_Shift_Del	DEL	CC	TCGA-B0-5102-01A-01D-1421-08	23001749	118184908	28179114	26	11636											
CA9	768	broad.mit.edu;hgsc.bcm.edu	37	9	35676103	35676103	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr9:35676103C>G	ENST00000378357.4	+	4	751	c.647C>G	c.(646-648)cCc>cGc	p.P216R		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	216	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.P216R(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GCTCTGGGTCCCGGGCGGGAG	0.701																																																1	Substitution - Missense(1)	kidney(1)											14	18	17					9																	35676103		2197	4296	6493	SO:0001583	missense	768			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.647C>G	9.37:g.35676103C>G	ENSP00000367608:p.Pro216Arg		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	C	6.650	0.488435	0.12641	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.65178	-0.14	4.96	4.06	0.47325	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.191796	0.36482	N	0.002571	T	0.72301	0.3443	M	0.66506	2.035	0.36083	D	0.842937	D;D	0.76494	0.989;0.999	P;D	0.70487	0.901;0.969	T	0.75929	-0.3144	10	0.45353	T	0.12	.	8.5467	0.33426	0.0:0.8984:0.0:0.1016	.	216;216	F5H404;Q16790	.;CAH9_HUMAN	R	216	ENSP00000367608:P216R	ENSP00000367608:P216R	P	+	2	0	CA9	35666103	0.014000	0.17966	0.998000	0.56505	0.129000	0.20672	0.974000	0.29436	2.735000	0.93741	0.655000	0.94253	CCC		0.701	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		G	35676103	C	G	35676103	3	3	186	1	0	0	0	0	1	0	0	0	2526	623	22	4	661	4	CA9	9	35676103	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08		35676103	105537328	27	11637											
COL15A1	1306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	101777786	101777786	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr9:101777786G>A	ENST00000375001.3	+	10	1864	c.1441G>A	c.(1441-1443)Gtc>Atc	p.V481I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	481	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.V481I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGCCAGTGGGGTCCCCACAGA	0.547																																																1	Substitution - Missense(1)	kidney(1)											66	60	62					9																	101777786		2203	4300	6503	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1441G>A	9.37:g.101777786G>A	ENSP00000364140:p.Val481Ile		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728601	0.30593	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89270	-2.49	3.33	-0.888	0.10583	.	14.345800	0.00465	N	0.000107	T	0.78842	0.4347	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63400	-0.6646	10	0.32370	T	0.25	0.017	3.062	0.06203	0.2192:0.0:0.4175:0.3633	.	481	P39059	COFA1_HUMAN	I	481;451	ENSP00000364140:V481I	ENSP00000364140:V481I	V	+	1	0	COL15A1	100817607	0.000000	0.05858	0.069000	0.20011	0.954000	0.61252	-0.321000	0.08018	-0.188000	0.10499	-0.143000	0.13931	GTC		0.547	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101777786	G	A	101777786	3	1	186	1	0	0	0	0	1	0	0	0	3674	1261	44	2	1479	2	COL15A1	9	101777786	Missense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08	66101683	101777786	39435645	28	11638											
OR1J2	26740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125273604	125273604	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr9:125273604C>T	ENST00000335302.5	+	1	524	c.524C>T	c.(523-525)cCc>cTc	p.P175L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P175L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						AACACCATCCCCCATGTCTTC	0.532																																																1	Substitution - Missense(1)	kidney(1)											184	153	163					9																	125273604		2203	4300	6503	SO:0001583	missense	26740				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.524C>T	9.37:g.125273604C>T	ENSP00000335575:p.Pro175Leu		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678659	0.29783	.	.	ENSG00000197233	ENST00000335302	T	0.00063	8.78	4.33	-0.143	0.13444	GPCR, rhodopsin-like superfamily (1);	0.407958	0.17651	U	0.166674	T	0.00178	0.0005	M	0.74467	2.265	0.09310	N	1	B	0.15719	0.014	B	0.25614	0.062	T	0.43310	-0.9399	10	0.62326	D	0.03	.	3.6823	0.08314	0.493:0.2948:0.1262:0.086	.	175	Q8NGS2	OR1J2_HUMAN	L	175	ENSP00000335575:P175L	ENSP00000335575:P175L	P	+	2	0	OR1J2	124313425	0.000000	0.05858	0.014000	0.15608	0.108000	0.19459	-0.816000	0.04477	0.062000	0.16340	0.650000	0.86243	CCC		0.532	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			T	125273604	C	T	125273604	3	4	186	1	0	0	0	0	1	0	0	0	10962	623	22	2	526	2	OR1J2	9	125273604	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08	23495818	125273604	15939827	29	11639											
LCN9	392399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	138555246	138555246	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr9:138555246A>C	ENST00000277526.3	+	1	79	c.79A>C	c.(79-81)Aac>Cac	p.N27H	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	27						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)	p.N27H(2)		kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TATGCAGAGGAACTACAACGT	0.627																																																2	Substitution - Missense(2)	kidney(2)											92	97	95					9																	138555246		2067	4198	6265	SO:0001583	missense	392399			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"Lipocalins"	17442	protein-coding gene	gene with protein product	"MUP-like lipocalin", "epididymal-specific lipocalin-9"	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.79A>C	9.37:g.138555246A>C	ENSP00000277526:p.Asn27His		C9J5F0|Q6JVE7	Missense_Mutation	SNP	ENST00000277526.3	37	CCDS56593.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.903759	0.33628	.	.	ENSG00000148386	ENST00000277526	T	0.21031	2.03	2.56	-3.11	0.05299	Lipocalin conserved site (1);Calycin (1);	0.696284	0.11860	N	0.522487	T	0.30541	0.0768	M	0.83223	2.63	0.09310	N	1	P	0.48407	0.91	P	0.49708	0.62	T	0.16453	-1.0402	10	0.87932	D	0	-24.0605	5.5553	0.17113	0.3133:0.189:0.4977:0.0	.	27	Q8WX39	LCN9_HUMAN	H	27	ENSP00000277526:N27H	ENSP00000277526:N27H	N	+	1	0	LCN9	137695067	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-0.367000	0.07553	-0.736000	0.04831	0.375000	0.23000	AAC		0.627	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		C	138555246	A	C	138555246	3	2	186	1	0	0	0	0	1	0	0	0	8689	246	9	5	81	5	LCN9	9	138555246	Missense_Mutation	SNP	A	TCGA-B0-5102-01A-01D-1421-08	13281642	138555246	2658185	30	11640											
OR52K1	390036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4510760	4510760	+	Silent	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr11:4510760G>A	ENST00000307632.3	+	1	652	c.630G>A	c.(628-630)gtG>gtA	p.V210V		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V210V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTATTGTGGTGTTGGACCTGC	0.502																																																1	Substitution - coding silent(1)	kidney(1)											536	414	455					11																	4510760		2201	4298	6499	SO:0001819	synonymous_variant	390036			AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"GPCR / Class A : Olfactory receptors"	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.630G>A	11.37:g.4510760G>A			B9EH54|Q6IFK5	Silent	SNP	ENST00000307632.3	37	CCDS31352.1																																																																																				0.502	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		A	4510760	G	A	4510760	2	1	186	1	0	0	0	0	0	0	0	1	11125	1364	48	2		2	OR52K1	11	4510760	Silent	SNP	G	TCGA-B0-5102-01A-01D-1421-08		4510760	130495756	31	11641											
OR51V1	283111	broad.mit.edu;ucsc.edu	37	11	5221093	5221093	+	Missense_Mutation	SNP	C	C	T	rs182727082		TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr11:5221093C>T	ENST00000321255.1	-	1	837	c.838G>A	c.(838-840)Gtg>Atg	p.V280M		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	280					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)	p.V280M(2)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGTGGGCCACGGGGGAAAGG	0.473																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)						C	MET/VAL	0,4402		0,0,2201	119	106	110		838	-10.3	0	11		110	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR51V1	NM_001004760.2	21	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	280/322	5221093	1,12997	2201	4298	6499	SO:0001583	missense	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.838G>A	11.37:g.5221093C>T	ENSP00000321729:p.Val280Met			Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.367	-0.936392	0.02340	0.0	1.16E-4	ENSG00000176742	ENST00000321255	T	0.71934	-0.61	5.15	-10.3	0.00346	GPCR, rhodopsin-like superfamily (1);	1.832430	0.03207	N	0.175706	T	0.59500	0.2198	M	0.71036	2.16	0.09310	N	1	B	0.34161	0.439	B	0.29598	0.104	T	0.51585	-0.8687	10	0.48119	T	0.1	.	2.5027	0.04638	0.291:0.2728:0.3341:0.1021	.	280	Q9H2C8	O51V1_HUMAN	M	280	ENSP00000321729:V280M	ENSP00000321729:V280M	V	-	1	0	OR51V1	5177669	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.098000	0.00151	-5.117000	0.00021	-1.224000	0.01588	GTG		0.473	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		T	5221093	C	T	5221093	3	4	186	1	0	0	0	0	1	0	0	0	11109	536	19	1	130	1	OR51V1	11	5221093	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08	710333	5221093	129785423	32	11642											
ATP2A2	488	broad.mit.edu;ucsc.edu	37	12	110720427	110720427	+	Splice_Site	SNP	G	G	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr12:110720427G>C	ENST00000539276.2	+	2	245		c.e2+1		ATP2A2_ENST00000308664.6_Splice_Site|ATP2A2_ENST00000395494.2_Splice_Site|ATP2A2_ENST00000552636.1_Splice_Site			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.?(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GCTGAAGAAGGTAATCTTAAC	0.363																																																1	Unknown(1)	kidney(1)											281	277	279					12																	110720427		2203	4300	6503	SO:0001630	splice_region_variant	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.136+1G>C	12.37:g.110720427G>C			A6NDN7|B4DF05|P16614|Q86VJ2	Splice_Site	SNP	ENST00000539276.2	37	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231040	0.79688	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	.	.	.	5.79	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.256	0.73585	0.0682:0.0:0.9318:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP2A2	109204810	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	9.178000	0.94855	2.739000	0.93911	0.655000	0.94253	.		0.363	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681	Intron	C	110720427	G	C	110720427	5	2	186	1	0	0	0	0	0	0	1	0	1137	1275	44	4	143	4	ATP2A2	12	110720427	Splice_Site	SNP	G	TCGA-B0-5102-01A-01D-1421-08		110720427	23131468	33	11643											
PCDH9	5101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	67800364	67800364	+	Silent	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr13:67800364G>A	ENST00000377865.2	-	1	2343	c.2209C>T	c.(2209-2211)Ctg>Ttg	p.L737L	PCDH9_ENST00000328454.5_Silent_p.L737L|PCDH9_ENST00000456367.1_Silent_p.L737L|PCDH9_ENST00000544246.1_Silent_p.L737L|PCDH9_ENST00000377861.3_Silent_p.L737L			Q9HC56	PCDH9_HUMAN	protocadherin 9	737	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L737L(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTTCTTCCAGAGTAATGTTA	0.433																																																1	Substitution - coding silent(1)	kidney(1)											144	137	139					13																	67800364		2203	4300	6503	SO:0001819	synonymous_variant	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2209C>T	13.37:g.67800364G>A			A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	CCDS9444.1																																																																																				0.433	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		A	67800364	G	A	67800364	2	1	186	1	0	0	0	0	0	0	0	1	11520	933	33	2		2	PCDH9	13	67800364	Silent	SNP	G	TCGA-B0-5102-01A-01D-1421-08		67800364	47369514	34	11644											
NIN	51199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	51224783	51224783	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr14:51224783C>T	ENST00000382041.3	-	18	3155	c.2965G>A	c.(2965-2967)Gcc>Acc	p.A989T	NIN_ENST00000324330.9_Missense_Mutation_p.A989T|NIN_ENST00000245441.5_Missense_Mutation_p.A989T|NIN_ENST00000530997.2_Missense_Mutation_p.A989T|NIN_ENST00000382043.4_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.A989T	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	989					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.A989T(2)|p.A995T(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCTCCATGGCTAGAAGCTTG	0.502			T	PDGFRB	MPD																																		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	3	Substitution - Missense(3)	kidney(3)											144	140	141					14																	51224783		2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2965G>A	14.37:g.51224783C>T	ENSP00000371472:p.Ala989Thr		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.458|9.458	1.092393|1.092393	0.20471|0.20471	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.08193|.	3.39;3.12;3.12;3.12|.	5.46|5.46	4.38|4.38	0.52667|0.52667	.|.	0.290468|.	0.33875|.	N|.	0.004477|.	T|T	0.53850|0.53850	0.1822|0.1822	M|M	0.64997|0.64997	1.995|1.995	0.21950|0.21950	N|N	0.999456|0.999456	B;B;B;P|.	0.45902|.	0.298;0.193;0.075;0.868|.	B;B;B;B|.	0.41510|.	0.076;0.048;0.034;0.359|.	T|T	0.46062|0.46062	-0.9218|-0.9218	10|5	0.23302|.	T|.	0.38|.	-1.0317|-1.0317	10.6887|10.6887	0.45858|0.45858	0.0:0.8375:0.0:0.1625|0.0:0.8375:0.0:0.1625	.|.	995;989;989;989|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	T|N	989;972;995;989;989;989|479	ENSP00000245441:A989T;ENSP00000371472:A989T;ENSP00000324210:A989T;ENSP00000412391:A989T|.	ENSP00000245441:A989T|.	A|S	-|-	1|2	0|0	NIN|NIN	50294533|50294533	0.093000|0.093000	0.21703|0.21703	0.673000|0.673000	0.29887|0.29887	0.043000|0.043000	0.13939|0.13939	1.208000|1.208000	0.32345|0.32345	2.561000|2.561000	0.86390|0.86390	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.502	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		T	51224783	C	T	51224783	3	4	186	1	0	0	0	0	1	0	0	0	10419	797	28	2	3640	2	NIN	14	51224783	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08		51224783	56124757	35	11645											
SPTB	6710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	65289684	65289684	+	Silent	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr14:65289684G>A	ENST00000389721.5	-	1	161	c.129C>T	c.(127-129)tcC>tcT	p.S43S	SPTB_ENST00000542895.1_Silent_p.S43S|SPTB_ENST00000389722.3_Silent_p.S43S|SPTB_ENST00000389720.3_Silent_p.S43S|SPTB_ENST00000556626.1_Silent_p.S43S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	43	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.S43S(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTTTATCCGGGACCTCTCAA	0.577											OREG0022736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											126	113	117					14																	65289684		2203	4300	6503	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.129C>T	14.37:g.65289684G>A		1083	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																				0.577	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			A	65289684	G	A	65289684	2	1	186	1	0	0	0	0	0	0	0	1	15123	1219	43	2		2	SPTB	14	65289684	Silent	SNP	G	TCGA-B0-5102-01A-01D-1421-08	14064901	65289684	42059856	36	11646											
PNMA1	9240	hgsc.bcm.edu	37	14	74179715	74179716	+	Frame_Shift_Ins	INS	-	-	G	rs200824271		TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr14:74179715_74179716insG	ENST00000316836.3	-	1	1412_1413	c.627_628insC	c.(625-630)cccgccfs	p.A210fs		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	210					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)		p.A210T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		acatcagcggcggggcctctaa	0.559																																																1	Substitution - Missense(1)	prostate(1)																																								SO:0001589	frameshift_variant	9240			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"Paraneoplastic Ma antigens"	9158	protein-coding gene	gene with protein product		604010	"paraneoplastic antigen MA1"			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.628dupC	14.37:g.74179719_74179719dupG	ENSP00000318914:p.Ala210fs		A8K4L5|O95144|Q8NG07	Frame_Shift_Ins	INS	ENST00000316836.3	37	CCDS9818.1																																																																																				0.559	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		G	74179716	-	G	74179715	7	5	186	1	0	1	1	0	0	0	0	0	12155	768	27	0	437	0	PNMA1	14	74179715	Frame_Shift_Ins	INS	-	TCGA-B0-5102-01A-01D-1421-08	8890031	74179715	33169825	37	11647											
MLH3	27030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75513873	75513873	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr14:75513873T>G	ENST00000556740.1	-	1	2521	c.2486A>C	c.(2485-2487)aAg>aCg	p.K829T	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.K829T|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.K829T|MLH3_ENST00000238662.7_Missense_Mutation_p.K829T			Q9UHC1	MLH3_HUMAN	mutL homolog 3	829					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.K829T(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GAATGGAAACTTCTCTGAGTT	0.383								Mismatch excision repair (MMR)																																								2	Substitution - Missense(2)	kidney(2)											86	88	87					14																	75513873		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2486A>C	14.37:g.75513873T>G	ENSP00000452316:p.Lys829Thr		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	T	7.393	0.631257	0.14322	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;D;T	0.81579	-1.43;-1.45;-1.51;-1.43	5.84	4.69	0.59074	.	0.937916	0.08975	N	0.866627	T	0.75496	0.3857	L	0.43152	1.355	0.29473	N	0.856923	B;B	0.17667	0.023;0.006	B;B	0.14578	0.011;0.002	T	0.66252	-0.5970	10	0.46703	T	0.11	-0.2914	10.5808	0.45255	0.0:0.0732:0.0:0.9268	.	829;829	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	T	829	ENSP00000348020:K829T;ENSP00000238662:K829T;ENSP00000451540:K829T;ENSP00000452316:K829T	ENSP00000238662:K829T	K	-	2	0	MLH3	74583626	0.000000	0.05858	0.010000	0.14722	0.022000	0.10575	0.547000	0.23299	1.027000	0.39758	0.533000	0.62120	AAG		0.383	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		G	75513873	T	G	75513873	3	3	186	1	0	0	0	0	1	0	0	0	9620	1609	56	5	1923	5	MLH3	14	75513873	Missense_Mutation	SNP	T	TCGA-B0-5102-01A-01D-1421-08	1334158	75513873	31835667	38	11648											
DUOX2	50506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45398798	45398798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr15:45398798G>A	ENST00000603300.1	-	16	2075	c.1873C>T	c.(1873-1875)Cga>Tga	p.R625*	DUOX2_ENST00000389039.6_Nonsense_Mutation_p.R625*	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	625					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.R625*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGTGTTCTCGGCCCCGGAAA	0.557																																																1	Substitution - Nonsense(1)	kidney(1)											148	145	146					15																	45398798		2198	4298	6496	SO:0001587	stop_gained	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1873C>T	15.37:g.45398798G>A	ENSP00000475084:p.Arg625*		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Nonsense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	41	8.775552	0.98950	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.42	4.42	0.53409	.	0.584816	0.18081	N	0.152290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1592	12.4305	0.55571	0.0:0.0:0.7839:0.2161	.	.	.	.	X	625	.	ENSP00000373691:R625X	R	-	1	2	DUOX2	43186090	0.027000	0.19231	0.998000	0.56505	0.664000	0.39144	1.233000	0.32648	2.534000	0.85438	0.455000	0.32223	CGA		0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		A	45398798	G	A	45398798	4	1	186	1	0	0	0	0	0	1	0	0	4803	1124	39	1	2849	1	DUOX2	15	45398798	Nonsense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08		45398798	57132594	39	11649											
SPESP1	246777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	69238414	69238414	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr15:69238414G>C	ENST00000310673.3	+	2	695	c.541G>C	c.(541-543)Gtc>Ctc	p.V181L	RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	181					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.V181F(1)|p.V181L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAGTCACCTGTCACCACTTT	0.448																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											124	121	122					15																	69238414		2200	4298	6498	SO:0001583	missense	246777			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.541G>C	15.37:g.69238414G>C	ENSP00000312284:p.Val181Leu		Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	G	8.345	0.829606	0.16749	.	.	ENSG00000258484	ENST00000310673	T	0.26810	1.71	3.77	-5.33	0.02713	.	1.845360	0.03277	N	0.185649	T	0.12220	0.0297	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15150	-1.0447	10	0.16420	T	0.52	4.9367	0.4776	0.00542	0.3815:0.1288:0.2022:0.2875	.	181	Q6UW49	SPESP_HUMAN	L	181	ENSP00000312284:V181L	ENSP00000312284:V181L	V	+	1	0	SPESP1	67025468	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-1.117000	0.02965	-0.274000	0.10170	GTC		0.448	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		C	69238414	G	C	69238414	3	2	186	1	0	0	0	0	1	0	0	0	15045	1377	48	4	547	4	SPESP1	15	69238414	Missense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08	23839616	69238414	33292978	40	11650											
MESP2	145873	broad.mit.edu	37	15	90321551	90321551	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr15:90321551G>A	ENST00000341735.3	+	2	1180	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S	MESP2_ENST00000560219.1_Missense_Mutation_p.G96S|MESP2_ENST00000558723.1_3'UTR	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	394					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G394S(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GGCCCGCCTGGGCATCTTCTA	0.547																																																1	Substitution - Missense(1)	kidney(1)											25	28	27					15																	90321551		1833	4075	5908	SO:0001583	missense	145873				CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.1180G>A	15.37:g.90321551G>A	ENSP00000342392:p.Gly394Ser		Q7RTU2	Missense_Mutation	SNP	ENST00000341735.3	37	CCDS42078.1	.	.	.	.	.	.	.	.	.	.	G	5.176	0.217954	0.09810	.	.	ENSG00000188095	ENST00000341735	T	0.79247	-1.25	4.91	1.97	0.26223	.	.	.	.	.	T	0.59362	0.2188	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.13407	0.009	T	0.48103	-0.9064	9	0.41790	T	0.15	-2.3782	7.2158	0.25959	0.3001:0.0:0.6999:0.0	.	394	Q0VG99	MESP2_HUMAN	S	394	ENSP00000342392:G394S	ENSP00000342392:G394S	G	+	1	0	MESP2	88122555	0.477000	0.25909	0.400000	0.26346	0.002000	0.02628	0.996000	0.29719	0.316000	0.23135	-0.216000	0.12614	GGC		0.547	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		A	90321551	G	A	90321551	3	1	186	1	0	0	0	0	1	0	0	0	9485	1232	43	2	1186	2	MESP2	15	90321551	Missense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08	21083137	90321551	12209841	41	11651											
RHBDF1	64285	hgsc.bcm.edu	37	16	111871	111871	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr16:111871C>T	ENST00000262316.6	-	8	1275	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	RHBDF1_ENST00000454039.2_Missense_Mutation_p.R378Q	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	378					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.R378Q(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GTTGGTGAGCCGTCCCACCAT	0.692																																																1	Substitution - Missense(1)	kidney(1)											26	28	27					16																	111871		2198	4293	6491	SO:0001583	missense	64285			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1133G>A	16.37:g.111871C>T	ENSP00000262316:p.Arg378Gln		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.734427	0.69189	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.67698	0.6;-0.28	4.43	4.43	0.53597	.	0.212602	0.44688	D	0.000423	T	0.47097	0.1427	L	0.27053	0.805	0.32394	N	0.552889	P;D;B	0.60575	0.948;0.988;0.081	B;B;B	0.40285	0.325;0.311;0.011	T	0.58411	-0.7641	10	0.37606	T	0.19	-42.2471	6.3364	0.21298	0.0:0.7976:0.0:0.2024	.	378;401;378	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	Q	378	ENSP00000262316:R378Q;ENSP00000392133:R378Q	ENSP00000262316:R378Q	R	-	2	0	RHBDF1	51871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.137000	0.50562	2.448000	0.82819	0.462000	0.41574	CGG		0.692	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		T	111871	C	T	111871	3	4	186	1	0	0	0	0	1	0	0	0	13325	652	23	1	1478	1	RHBDF1	16	111871	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08		111871	90242882	42	11652											
TELO2	9894	broad.mit.edu;hgsc.bcm.edu	37	16	1557029	1557029	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr16:1557029A>G	ENST00000262319.6	+	18	2482	c.2203A>G	c.(2203-2205)Atg>Gtg	p.M735V		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	735					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.M735V(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGGGGCCCTGATGTGCCTGGC	0.647																																																1	Substitution - Missense(1)	kidney(1)											62	47	52					16																	1557029		2197	4299	6496	SO:0001583	missense	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2203A>G	16.37:g.1557029A>G	ENSP00000262319:p.Met735Val		D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.840489	0.51057	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.18174	2.23	4.62	4.62	0.57501	.	0.073354	0.85682	D	0.000000	T	0.31451	0.0797	M	0.70595	2.14	0.58432	D	0.999994	D	0.67145	0.996	P	0.60286	0.872	T	0.18808	-1.0325	10	0.07644	T	0.81	-50.1973	13.132	0.59389	1.0:0.0:0.0:0.0	.	735	Q9Y4R8	TELO2_HUMAN	V	258;735	ENSP00000262319:M735V	ENSP00000262319:M735V	M	+	1	0	TELO2	1497030	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.013000	0.49582	1.962000	0.57031	0.379000	0.24179	ATG		0.647	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		G	1557029	A	G	1557029	3	3	186	1	0	0	0	0	1	0	0	0	15762	333	12	3	2269	3	TELO2	16	1557029	Missense_Mutation	SNP	A	TCGA-B0-5102-01A-01D-1421-08	1445158	1557029	88797724	43	11653											
KIAA0430	9665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15706525	15706525	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr16:15706525G>C	ENST00000396368.3	-	17	3569	c.3363C>G	c.(3361-3363)atC>atG	p.I1121M	CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000602337.1_Missense_Mutation_p.I1118M|KIAA0430_ENST00000344181.3_Missense_Mutation_p.I723M|KIAA0430_ENST00000551742.1_Missense_Mutation_p.I1121M|KIAA0430_ENST00000540441.2_Missense_Mutation_p.I956M|KIAA0430_ENST00000548025.1_Missense_Mutation_p.I1118M	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1121	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I1121M(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGAAATGACTGATGGGTATGA	0.468																																																1	Substitution - Missense(1)	kidney(1)											234	234	234					16																	15706525		2008	4201	6209	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3363C>G	16.37:g.15706525G>C	ENSP00000379654:p.Ile1121Met		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891155	0.52014	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.45	-4.0	0.04057	.	0.310256	0.36167	N	0.002750	T	0.27697	0.0681	N	0.02011	-0.69	0.27218	N	0.959746	P;B;B;P	0.44877	0.813;0.019;0.019;0.845	P;B;B;P	0.52454	0.573;0.029;0.029;0.699	T	0.46498	-0.9187	10	0.42905	T	0.14	.	11.9162	0.52767	0.2151:0.1098:0.6751:0.0	.	1120;1118;1117;1120	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	M	1121;956;1061;723;1118;1121;901	ENSP00000379654:I1121M;ENSP00000439819:I956M;ENSP00000341939:I723M;ENSP00000449376:I1118M;ENSP00000450309:I1121M	ENSP00000315718:I1061M	I	-	3	3	KIAA0430	15614026	0.261000	0.24063	0.336000	0.25522	0.978000	0.69477	-0.549000	0.06041	-0.611000	0.05709	-0.280000	0.10049	ATC		0.468	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		C	15706525	G	C	15706525	3	2	186	1	0	0	0	0	1	0	0	0	8179	1280	45	4	1909	4	KIAA0430	16	15706525	Missense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08	14149496	15706525	74648228	44	11654											
BRD7	29117	hgsc.bcm.edu	37	16	50383993	50383994	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr16:50383993_50383994insAC	ENST00000394688.3	-	5	690_691	c.531_532insGT	c.(529-534)gattttfs	p.F178fs	BRD7_ENST00000394689.2_Frame_Shift_Ins_p.F178fs|snoU13_ENST00000459559.1_RNA|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	178	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATGGTACTAAAATCCATTGGGT	0.337																																																0																																										SO:0001589	frameshift_variant	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.531_532insGT	16.37:g.50383993_50383994insAC	ENSP00000378180:p.Phe178fs		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Frame_Shift_Ins	INS	ENST00000394688.3	37	CCDS10742.1																																																																																				0.337	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		AC	50383994	-	AC	50383993	7	5	186	1	0	1	1	0	0	0	0	0	1507	14	1	0	1478	0	BRD7	16	50383993	Frame_Shift_Ins	INS	-	TCGA-B0-5102-01A-01D-1421-08	34677468	50383993	39970760	45	11655											
HYDIN	54768	broad.mit.edu;hgsc.bcm.edu	37	16	70884503	70884503	+	Silent	SNP	A	A	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr16:70884503A>G	ENST00000393567.2	-	74	12649	c.12499T>C	c.(12499-12501)Ttg>Ctg	p.L4167L	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4167					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.L4118L(1)|p.L4166L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTGCAGATCAAATTAAAGTTC	0.443																																																2	Substitution - coding silent(2)	kidney(2)											67	58	61					16																	70884503		1851	4098	5949	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12499T>C	16.37:g.70884503A>G			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.443	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	70884503	A	G	70884503	2	3	186	1	0	0	0	0	0	0	0	1	7469	11	1	3		3	HYDIN	16	70884503	Silent	SNP	A	TCGA-B0-5102-01A-01D-1421-08	20500510	70884503	19470250	46	11656											
PIK3R5	23533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8793400	8793400	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr17:8793400G>A	ENST00000447110.1	-	8	825	c.701C>T	c.(700-702)gCa>gTa	p.A234V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A234V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A234V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	234				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.A234V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGTGCCTCTGCGGTCTCCGT	0.627																																					NSCLC(18;589 615 7696 20311 50332)											1	Substitution - Missense(1)	kidney(1)											80	73	75					17																	8793400		2203	4300	6503	SO:0001583	missense	23533			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.701C>T	17.37:g.8793400G>A	ENSP00000392812:p.Ala234Val		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392406	0.96009	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.76709	-1.04	5.21	5.21	0.72293	.	0.312796	0.35805	N	0.002978	T	0.62563	0.2438	N	0.19112	0.55	0.20764	N	0.999853	B	0.06786	0.001	B	0.12837	0.008	T	0.34279	-0.9835	10	0.05351	T	0.99	-2.8799	17.3066	0.87197	0.0:0.0:1.0:0.0	.	234	Q8WYR1	PI3R5_HUMAN	V	234	ENSP00000392812:A234V	ENSP00000269300:A234V	A	-	2	0	PIK3R5	8734125	0.080000	0.21391	0.596000	0.28811	0.980000	0.70556	2.635000	0.46537	2.423000	0.82170	0.561000	0.74099	GCA		0.627	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		A	8793400	G	A	8793400	3	1	186	1	0	0	0	0	1	0	0	0	11924	1319	46	2	1989	2	PIK3R5	17	8793400	Missense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08		8793400	72401810	47	11657											
ELSPBP1	64100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	48517560	48517560	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr19:48517560G>T	ENST00000339841.2	+	3	381	c.203G>T	c.(202-204)aGt>aTt	p.S68I	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	68	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)		p.S68I(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TACTGCCAGAGTGAAGGTGAG	0.473																																																1	Substitution - Missense(1)	kidney(1)											139	120	127					19																	48517560		2203	4300	6503	SO:0001583	missense	64100			AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.203G>T	19.37:g.48517560G>T	ENSP00000340660:p.Ser68Ile		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	G	3.575	-0.086879	0.07097	.	.	ENSG00000169393	ENST00000339841	T	0.09817	2.94	3.27	-6.53	0.01866	Fibronectin, type II, collagen-binding (3);Kringle-like fold (2);	3.219210	0.02094	N	0.053327	T	0.04907	0.0132	N	0.11255	0.115	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.27773	-1.0064	10	0.35671	T	0.21	.	2.2998	0.04159	0.2553:0.4462:0.1175:0.181	.	68	Q96BH3	ESPB1_HUMAN	I	68	ENSP00000340660:S68I	ENSP00000340660:S68I	S	+	2	0	ELSPBP1	53209372	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.044000	0.00631	-2.737000	0.00381	-1.173000	0.01734	AGT		0.473	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			T	48517560	G	T	48517560	3	4	186	1	0	0	0	0	1	0	0	0	5085	1029	36	4	209	4	ELSPBP1	19	48517560	Missense_Mutation	SNP	G	TCGA-B0-5102-01A-01D-1421-08		48517560	10611423	48	11658											
CACNA1F	778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	49071691	49071691	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chrX:49071691T>G	ENST00000376265.2	-	29	3546	c.3485A>C	c.(3484-3486)gAa>gCa	p.E1162A	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1097A|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1151A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1162					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E1162A(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGGGCATATTCCACACATTG	0.587																																																1	Substitution - Missense(1)	kidney(1)											128	86	100					X																	49071691		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3485A>C	X.37:g.49071691T>G	ENSP00000365441:p.Glu1162Ala		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.524278	0.64747	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96856	-4.15;-4.08;-4.08	5.5	5.5	0.81552	.	0.420318	0.27100	N	0.020921	D	0.96911	0.8991	M	0.84683	2.71	0.49483	D	0.999796	D;P	0.56521	0.976;0.647	P;P	0.49085	0.6;0.548	D	0.96898	0.9658	10	0.62326	D	0.03	.	13.5123	0.61519	0.0:0.0:0.0:1.0	.	1151;1162	F5CIQ9;O60840	.;CAC1F_HUMAN	A	1097;1151;1162	ENSP00000365427:E1097A;ENSP00000321618:E1151A;ENSP00000365441:E1162A	ENSP00000321618:E1151A	E	-	2	0	CACNA1F	48958635	0.992000	0.36948	0.976000	0.42696	0.576000	0.36127	7.979000	0.88103	1.834000	0.53371	0.441000	0.28932	GAA		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		G	49071691	T	G	49071691	3	3	186	1	0	0	0	0	1	0	0	0	2545	1783	62	5	2528	5	CACNA1F	23	49071691	Missense_Mutation	SNP	T	TCGA-B0-5102-01A-01D-1421-08		49071691	106198869	49	11659											
SMC1A	8243	hgsc.bcm.edu	37	X	53430709	53430709	+	Splice_Site	SNP	C	C	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chrX:53430709C>G	ENST00000322213.4	-	14	2440	c.2313G>C	c.(2311-2313)caG>caC	p.Q771H		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	771					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.Q771H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCCTACCAACCTGGTTCATCT	0.532																																																1	Substitution - Missense(1)	kidney(1)											179	132	148					X																	53430709		2203	4300	6503	SO:0001630	splice_region_variant	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2313+1G>C	X.37:g.53430709C>G			O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233809	0.58886	.	.	ENSG00000072501	ENST00000322213	T	0.78003	-1.14	4.45	4.45	0.53987	RecF/RecN/SMC (1);	0.164120	0.41097	D	0.000948	T	0.80571	0.4648	M	0.61703	1.905	0.80722	D	1	B;B	0.33073	0.396;0.393	B;P	0.44359	0.289;0.447	T	0.78635	-0.2127	9	.	.	.	.	15.3885	0.74723	0.0:1.0:0.0:0.0	.	749;771	Q6MZR8;Q14683	.;SMC1A_HUMAN	H	771	ENSP00000323421:Q771H	.	Q	-	3	2	SMC1A	53447434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.084000	0.64462	2.230000	0.72887	0.529000	0.55759	CAG		0.532	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	Missense_Mutation	G	53430709	C	G	53430709	5	3	186	1	0	0	0	0	0	0	1	0	14787	695	24	4	1436	4	SMC1A	23	53430709	Splice_Site	SNP	C	TCGA-B0-5102-01A-01D-1421-08	4359018	53430709	101839851	50	11660											
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76813066	76813066	+	Silent	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chrX:76813066C>T	ENST00000373344.5	-	30	6769	c.6555G>A	c.(6553-6555)ctG>ctA	p.L2185L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.L2147L	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2185	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.L2185L(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTCGAAAAGACAGTGACTGCT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - coding silent(2)|Unknown(1)	kidney(2)|bone(1)											144	131	135					X																	76813066		2203	4296	6499	SO:0001819	synonymous_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6555G>A	X.37:g.76813066C>T			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		T	76813066	C	T	76813066	2	4	186	1	0	0	0	0	0	0	0	1	1208	465	17	2		2	ATRX	23	76813066	Silent	SNP	C	TCGA-B0-5102-01A-01D-1421-08	23382357	76813066	78457494	51	11661											
GABRQ	55879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151821523	151821523	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chrX:151821523C>A	ENST00000370306.2	+	9	1698	c.1678C>A	c.(1678-1680)Ctt>Att	p.L560I		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	560					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.L560I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TACCTGGGGCCTTAATGATGA	0.517																																																1	Substitution - Missense(1)	kidney(1)											110	85	93					X																	151821523		2203	4300	6503	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1678C>A	X.37:g.151821523C>A	ENSP00000359329:p.Leu560Ile		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	9.064	0.995281	0.19043	.	.	ENSG00000147402	ENST00000370306;ENST00000333733	T	0.80653	-1.4	4.69	0.707	0.18139	Neurotransmitter-gated ion-channel transmembrane domain (2);	6.994430	0.00166	N	0.000001	T	0.74053	0.3666	L	0.43152	1.355	0.09310	N	1	B	0.14805	0.011	B	0.19946	0.027	T	0.55842	-0.8077	10	0.87932	D	0	.	2.4985	0.04628	0.3041:0.3099:0.2938:0.0922	.	560	Q9UN88	GBRT_HUMAN	I	560;85	ENSP00000359329:L560I	ENSP00000331410:L85I	L	+	1	0	GABRQ	151572179	0.009000	0.17119	0.000000	0.03702	0.012000	0.07955	-0.091000	0.11146	-0.007000	0.14345	0.600000	0.82982	CTT		0.517	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		A	151821523	C	A	151821523	3	1	186	1	0	0	0	0	1	0	0	0	6177	681	24	4	1712	4	GABRQ	23	151821523	Missense_Mutation	SNP	C	TCGA-B0-5102-01A-01D-1421-08	75008457	151821523	3449037	52	11662											
TRIM46	80128	hgsc.bcm.edu	37	1	155150596	155150597	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr1:155150596_155150597insG	ENST00000334634.4	+	6	1028_1029	c.1028_1029insG	c.(1027-1032)ctggccfs	p.A344fs	TRIM46_ENST00000368385.4_Frame_Shift_Ins_p.A344fs|TRIM46_ENST00000392451.2_Frame_Shift_Ins_p.A344fs|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000543729.1_Frame_Shift_Ins_p.A351fs|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Frame_Shift_Ins_p.A344fs|TRIM46_ENST00000545012.1_Frame_Shift_Ins_p.A218fs|TRIM46_ENST00000368382.1_Frame_Shift_Ins_p.A321fs	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	344						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGGAGCGGCTGGCCCGTCTCA	0.629																																																0																																										SO:0001589	frameshift_variant	80128				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1030dupG	1.37:g.155150598_155150598dupG	ENSP00000334657:p.Ala344fs		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Frame_Shift_Ins	INS	ENST00000334634.4	37	CCDS1097.1																																																																																				0.629	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		G	155150597	-	G	155150596	7	5	187	1	0	1	1	0	0	0	0	0	16526	1580	55	0	1050	0	TRIM46	1	155150596	Frame_Shift_Ins	INS	-	TCGA-B0-5104-01A-01D-1421-08		155150596	94100025	1	11663											
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186056587	186056587	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr1:186056587T>G	ENST00000271588.4	+	60	9402	c.9173T>G	c.(9172-9174)aTt>aGt	p.I3058S	HMCN1_ENST00000367492.2_Missense_Mutation_p.I3058S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3058	Ig-like C2-type 29.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.I3058S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCCCAAGCATTAAAGACCAT	0.383																																																1	Substitution - Missense(1)	kidney(1)											77	76	77					1																	186056587		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9173T>G	1.37:g.186056587T>G	ENSP00000271588:p.Ile3058Ser		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.139160	0.77775	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.75260	-0.92;-0.92	5.5	5.5	0.81552	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88347	0.6412	M	0.91663	3.23	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	D	0.89877	0.4027	10	0.46703	T	0.11	.	15.5957	0.76578	0.0:0.0:0.0:1.0	.	3058	Q96RW7	HMCN1_HUMAN	S	3058	ENSP00000271588:I3058S;ENSP00000356462:I3058S	ENSP00000271588:I3058S	I	+	2	0	HMCN1	184323210	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.728000	0.84847	2.074000	0.62210	0.533000	0.62120	ATT		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186056587	T	G	186056587	3	3	187	1	0	0	0	0	1	0	0	0	7222	1493	52	5	9411	5	HMCN1	1	186056587	Missense_Mutation	SNP	T	TCGA-B0-5104-01A-01D-1421-08	30905991	186056587	63194034	2	11664											
NAV1	89796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201779747	201779747	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr1:201779747G>A	ENST00000367296.4	+	24	5078	c.4658G>A	c.(4657-4659)cGc>cAc	p.R1553H	NAV1_ENST00000367295.1_Missense_Mutation_p.R1159H|MIR1231_ENST00000408101.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.R1550H|NAV1_ENST00000367297.4_Missense_Mutation_p.R1545H|NAV1_ENST00000367300.3_Missense_Mutation_p.R1493H|NAV1_ENST00000367302.1_Missense_Mutation_p.R1506H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1553					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R1550H(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAGCACCGGCGCCTCGTCCTC	0.627																																																1	Substitution - Missense(1)	kidney(1)											54	47	49					1																	201779747		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4658G>A	1.37:g.201779747G>A	ENSP00000356265:p.Arg1553His		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	35	5.502800	0.96371	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.85	4.85	0.62838	.	0.127561	0.53938	D	0.000046	D	0.92974	0.7764	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	D	0.93731	0.7041	10	0.87932	D	0	-25.1358	17.7641	0.88471	0.0:0.0:1.0:0.0	.	1159;1550	Q8NEY1-5;Q8NEY1-3	.;.	H	1506;1553;1550;1545;1493;1159	ENSP00000356271:R1506H;ENSP00000356265:R1553H;ENSP00000295624:R1550H;ENSP00000356266:R1545H;ENSP00000356269:R1493H;ENSP00000356264:R1159H	ENSP00000295624:R1550H	R	+	2	0	NAV1	200046370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.577000	0.98196	2.503000	0.84419	0.585000	0.79938	CGC		0.627	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		A	201779747	G	A	201779747	3	1	187	1	0	0	0	0	1	0	0	0	10185	1087	38	1	4809	1	NAV1	1	201779747	Missense_Mutation	SNP	G	TCGA-B0-5104-01A-01D-1421-08	15723160	201779747	47470874	3	11665											
PARP1	142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	226551746	226551746	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr1:226551746A>G	ENST00000366794.5	-	20	2827	c.2684T>C	c.(2683-2685)aTc>aCc	p.I895T	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	895	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I895T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGCGAAATAGATCCCTTTACC	0.488								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								1	Substitution - Missense(1)	kidney(1)											124	114	117					1																	226551746		2203	4300	6503	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2684T>C	1.37:g.226551746A>G	ENSP00000355759:p.Ile895Thr		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951151	0.92660	.	.	ENSG00000143799	ENST00000366794	T	0.16324	2.35	6.17	6.17	0.99709	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.045054	0.85682	D	0.000000	T	0.54598	0.1868	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.66763	-0.5841	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	895	P09874	PARP1_HUMAN	T	895	ENSP00000355759:I895T	ENSP00000355759:I895T	I	-	2	0	PARP1	224618369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.310000	0.96267	2.371000	0.80710	0.533000	0.62120	ATC		0.488	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		G	226551746	A	G	226551746	3	3	187	1	0	0	0	0	1	0	0	0	11456	333	12	3	376	3	PARP1	1	226551746	Missense_Mutation	SNP	A	TCGA-B0-5104-01A-01D-1421-08	24771999	226551746	22698875	4	11666											
LCLAT1	253558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	30785088	30785088	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:30785088G>A	ENST00000309052.4	+	5	764	c.555G>A	c.(553-555)atG>atA	p.M185I	LCLAT1_ENST00000359433.1_Missense_Mutation_p.M185I|LCLAT1_ENST00000379509.3_Missense_Mutation_p.M147I|LCLAT1_ENST00000540623.1_Missense_Mutation_p.M147I|LCLAT1_ENST00000319406.4_Missense_Mutation_p.M185I|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	185					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.M185I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TCGAAGACATGATTGATTACT	0.403																																																1	Substitution - Missense(1)	kidney(1)											113	104	107					2																	30785088		2203	4300	6503	SO:0001583	missense	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.555G>A	2.37:g.30785088G>A	ENSP00000310551:p.Met185Ile		A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859766	0.51376	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000319406;ENST00000309052;ENST00000359433;ENST00000540623	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	5.48	5.48	0.80851	Phospholipid/glycerol acyltransferase (2);	0.034902	0.85682	D	0.000000	D	0.86896	0.6043	N	0.21097	0.63	0.58432	D	0.999999	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.003	T	0.81446	-0.0929	9	.	.	.	-23.92	19.3613	0.94440	0.0:0.0:1.0:0.0	.	185;185	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	I	147;147;185;185;185;147	ENSP00000368823:M147I;ENSP00000368826:M185I;ENSP00000310551:M185I;ENSP00000352406:M185I;ENSP00000442857:M147I	.	M	+	3	0	LCLAT1	30638592	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.512000	0.67030	2.573000	0.86826	0.650000	0.86243	ATG		0.403	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		A	30785088	G	A	30785088	3	1	187	1	0	0	0	0	1	0	0	0	8679	1290	45	2	569	2	LCLAT1	2	30785088	Missense_Mutation	SNP	G	TCGA-B0-5104-01A-01D-1421-08		30785088	212414285	5	11667											
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32673959	32673959	+	Silent	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:32673959C>A	ENST00000421745.2	+	22	4715	c.4581C>A	c.(4579-4581)gtC>gtA	p.V1527V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1527					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.V1499V(1)|p.V1527V(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCATTGGTGTCCAGTCAGATG	0.343																																					Pancreas(94;175 1509 16028 18060 45422)											2	Substitution - coding silent(2)	kidney(2)											132	133	133					2																	32673959		2203	4300	6503	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4581C>A	2.37:g.32673959C>A			Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																				0.343	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32673959	C	A	32673959	2	1	187	1	0	0	0	0	0	0	0	1	1438	842	30	4		4	BIRC6	2	32673959	Silent	SNP	C	TCGA-B0-5104-01A-01D-1421-08	1888871	32673959	210525414	6	11668											
LBX2	85474	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74725150	74725150	+	Silent	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:74725150C>T	ENST00000377566.4	-	2	679	c.501G>A	c.(499-501)ctG>ctA	p.L167L	LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Silent_p.L163L|LBX2_ENST00000341396.2_3'UTR|AC005041.17_ENST00000479098.1_RNA	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L163L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						CGCCTTCGGGCAGTGCTAAGC	0.667																																																1	Substitution - coding silent(1)	kidney(1)											39	40	40					2																	74725150		2203	4299	6502	SO:0001819	synonymous_variant	85474			AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"Homeoboxes / ANTP class : NKL subclass"	15525	protein-coding gene	gene with protein product		607164	"ladybird homeobox homolog 2 (Drosophila)"			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.501G>A	2.37:g.74725150C>T			Q7Z5Y8	Silent	SNP	ENST00000377566.4	37																																																																																					0.667	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1	NM_001009812		T	74725150	C	T	74725150	2	4	187	1	0	0	0	0	0	0	0	1	8656	697	25	2		2	LBX2	2	74725150	Silent	SNP	C	TCGA-B0-5104-01A-01D-1421-08	42051191	74725150	168474223	7	11669											
DARS	1615	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	136678172	136678172	+	Splice_Site	SNP	T	T	C			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:136678172T>C	ENST00000264161.4	-	10	1027		c.e10-2		DARS_ENST00000537273.1_Splice_Site	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase						aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTCTGAATACTGTGAAGTTAA	0.323																																																1	Unknown(1)	kidney(1)											74	75	75					2																	136678172		2203	4300	6503	SO:0001630	splice_region_variant	1615			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.812-2A>G	2.37:g.136678172T>C			A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Splice_Site	SNP	ENST00000264161.4	37	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436673	0.62955	.	.	ENSG00000115866	ENST00000264161;ENST00000537273	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8483	0.78907	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DARS	136394642	1.000000	0.71417	0.993000	0.49108	0.792000	0.44763	7.993000	0.88291	2.203000	0.70933	0.477000	0.44152	.		0.323	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349	Intron	C	136678172	T	C	136678172	5	2	187	1	0	0	0	0	0	0	1	0	4243	1594	55	3	723	3	DARS	2	136678172	Splice_Site	SNP	T	TCGA-B0-5104-01A-01D-1421-08	61953022	136678172	106521201	8	11670											
FSIP2	401024	broad.mit.edu;hgsc.bcm.edu	37	2	186669998	186669998	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:186669998A>T	ENST00000424728.1	+	17	15965	c.15965A>T	c.(15964-15966)gAa>gTa	p.E5322V	FSIP2_ENST00000343098.5_Missense_Mutation_p.E5411V			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5322								p.E20V(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTGATAAGGGAATTTAAGAAA	0.299																																																2	Substitution - Missense(2)	kidney(2)											70	71	71					2																	186669998		1793	4053	5846	SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.15965A>T	2.37:g.186669998A>T	ENSP00000401306:p.Glu5322Val		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	A	13.32	2.201486	0.38905	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.58060	0.36;0.36	5.45	5.45	0.79879	.	.	.	.	.	T	0.46889	0.1416	N	0.24115	0.695	0.27227	N	0.959511	.	.	.	.	.	.	T	0.49011	-0.8983	7	0.72032	D	0.01	.	11.8204	0.52235	1.0:0.0:0.0:0.0	.	.	.	.	V	5411;5322	ENSP00000344403:E5411V;ENSP00000401306:E5322V	ENSP00000344403:E5411V	E	+	2	0	FSIP2	186378243	1.000000	0.71417	0.994000	0.49952	0.082000	0.17680	4.343000	0.59348	2.285000	0.76669	0.477000	0.44152	GAA		0.299	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		T	186669998	A	T	186669998	3	4	187	1	0	0	0	0	1	0	0	0	6077	246	9	5	16298	5	FSIP2	2	186669998	Missense_Mutation	SNP	A	TCGA-B0-5104-01A-01D-1421-08	49991826	186669998	56529375	9	11671											
ABCA12	26154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	215818763	215818763	+	Silent	SNP	G	G	A	rs200584463	byFrequency	TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:215818763G>A	ENST00000272895.7	-	44	6681	c.6462C>T	c.(6460-6462)taC>taT	p.Y2154Y	ABCA12_ENST00000389661.4_Silent_p.Y1836Y|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2154					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.Y2154Y(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAATCAAACCGTAGCCAAAAC	0.353													G|||	6	0.00119808	0.0	0.0	5008	,	,		17618	0.0		0.0	False		,,,				2504	0.0061				Ovarian(66;664 1488 5121 34295)											1	Substitution - coding silent(1)	kidney(1)						G	,	0,4406		0,0,2203	97	101	99		5508,6462	-11.9	0.3	2		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ABCA12	NM_015657.3,NM_173076.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1836/2278,2154/2596	215818763	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6462C>T	2.37:g.215818763G>A			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.353	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		A	215818763	G	A	215818763	2	1	187	1	0	0	0	0	0	0	0	1	30	1140	40	1		1	ABCA12	2	215818763	Silent	SNP	G	TCGA-B0-5104-01A-01D-1421-08	29148765	215818763	27380610	10	11672											
IRS1	3667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	227660084	227660084	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:227660084G>A	ENST00000305123.5	-	1	4391	c.3371C>T	c.(3370-3372)gCa>gTa	p.A1124V	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1124					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.A1124V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCCCCTACTGCTGCCCCCGC	0.642																																																1	Substitution - Missense(1)	kidney(1)											35	35	35					2																	227660084		2203	4300	6503	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3371C>T	2.37:g.227660084G>A	ENSP00000304895:p.Ala1124Val			Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	5.368	0.253223	0.10185	.	.	ENSG00000169047	ENST00000305123	T	0.58358	0.34	5.28	-1.22	0.09494	.	0.945681	0.08703	N	0.906108	T	0.34048	0.0884	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21861	-1.0233	10	0.35671	T	0.21	0.0642	6.7306	0.23381	0.2622:0.3363:0.4014:0.0	.	1124	P35568	IRS1_HUMAN	V	1124	ENSP00000304895:A1124V	ENSP00000304895:A1124V	A	-	2	0	IRS1	227368328	0.603000	0.26924	0.000000	0.03702	0.002000	0.02628	1.515000	0.35845	-0.120000	0.11809	-0.140000	0.14226	GCA		0.642	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		A	227660084	G	A	227660084	3	1	187	1	0	0	0	0	1	0	0	0	7842	1319	46	2	361	2	IRS1	2	227660084	Missense_Mutation	SNP	G	TCGA-B0-5104-01A-01D-1421-08	11841321	227660084	15539289	11	11673											
ALPP	250	broad.mit.edu	37	2	233246013	233246013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:233246013C>A	ENST00000392027.2	+	10	1514	c.1245C>A	c.(1243-1245)taC>taA	p.Y415*	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	415					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.Y415Y(2)|p.Y415*(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCCTCCTATACGGAAACGGTC	0.667																																																3	Substitution - coding silent(2)|Substitution - Nonsense(1)	kidney(2)|large_intestine(1)											35	45	42					2																	233246013		2202	4296	6498	SO:0001587	stop_gained	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1245C>A	2.37:g.233246013C>A	ENSP00000375881:p.Tyr415*		P05188|P06861|Q53S78|Q96DB7	Nonsense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	C	36	5.885638	0.97068	.	.	ENSG00000163283	ENST00000392027	.	.	.	2.35	-0.463	0.12164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6759	0.23093	0.0:0.3636:0.0:0.6364	.	.	.	.	X	415	.	ENSP00000375881:Y415X	Y	+	3	2	ALPP	232954257	0.003000	0.15002	0.067000	0.19924	0.005000	0.04900	-1.611000	0.02062	-0.198000	0.10333	-0.786000	0.03341	TAC		0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		A	233246013	C	A	233246013	4	1	187	1	0	0	0	0	0	1	0	0	548	547	19	4	1283	4	ALPP	2	233246013	Nonsense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08	5585929	233246013	9953360	12	11674											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52637692	52637694	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	ATT	ATT	ATT	-	ATT	ATT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr3:52637692_52637694delATT	ENST00000296302.7	-	17	2623_2625	c.2622_2624delAAT	c.(2620-2625)aaaatt>aat	p.874_875KI>N	PBRM1_ENST00000409767.1_In_Frame_Del_p.889_890KI>N|PBRM1_ENST00000409057.1_In_Frame_Del_p.874_875KI>N|PBRM1_ENST00000356770.4_In_Frame_Del_p.842_843KI>N|PBRM1_ENST00000337303.4_In_Frame_Del_p.874_875KI>N|PBRM1_ENST00000410007.1_In_Frame_Del_p.874_875KI>N|PBRM1_ENST00000409114.3_In_Frame_Del_p.889_890KI>N|PBRM1_ENST00000394830.3_In_Frame_Del_p.874_875KI>N			Q86U86	PB1_HUMAN	polybromo 1	874					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I873fs*2(2)|p.I841fs*2(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCATCACGAATTTTAATAAAAA	0.355			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Deletion - Frameshift(3)	kidney(3)																																								SO:0001651	inframe_deletion	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2622_2624delAAT	3.37:g.52637692_52637694delATT	ENSP00000296302:p.Lys874_Ile875delinsAsn		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	In_Frame_Del	DEL	ENST00000296302.7	37																																																																																					0.355	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52637694	ATT	-	52637692	7	5	187	1	0	1	0	1	0	0	0	0	11493	101	4	0	2332	0	PBRM1	3	52637692	In_Frame_Del	DEL	ATT	TCGA-B0-5104-01A-01D-1421-08		52637692	145384738	13	11675											
PDE12	201626	hgsc.bcm.edu;ucsc.edu	37	3	57542938	57542938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr3:57542938delA	ENST00000311180.8	+	1	935	c.832delA	c.(832-834)actfs	p.T278fs	PDE12_ENST00000487257.1_Frame_Shift_Del_p.T278fs	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	278					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGCACCTGCACTTTTGACCA	0.582																																					Colon(125;308 1634 19198 50622 50717)											0													84	84	84					3																	57542938		2203	4300	6503	SO:0001589	frameshift_variant	201626			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.832delA	3.37:g.57542938delA	ENSP00000309142:p.Thr278fs		B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Frame_Shift_Del	DEL	ENST00000311180.8	37	CCDS33772.1																																																																																				0.582	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		-	57542938	A	-	57542938	7	5	187	1	0	1	0	1	0	0	0	0	11634	159	6	0	834	0	PDE12	3	57542938	Frame_Shift_Del	DEL	A	TCGA-B0-5104-01A-01D-1421-08	4905246	57542938	140479492	14	11676	90	2									
PDE12	201626	hgsc.bcm.edu	37	3	57542940	57542940	+	Silent	SNP	T	T	C			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr3:57542940T>C	ENST00000311180.8	+	1	937	c.834T>C	c.(832-834)acT>acC	p.T278T	PDE12_ENST00000487257.1_Silent_p.T278T	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	278					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GCACCTGCACTTTTGACCACC	0.587																																					Colon(125;308 1634 19198 50622 50717)											0													84	84	84					3																	57542940		2203	4300	6503	SO:0001819	synonymous_variant	201626			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.834T>C	3.37:g.57542940T>C			B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	ENST00000311180.8	37	CCDS33772.1																																																																																				0.587	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		C	57542940	T	C	57542940	2	2	187	1	0	0	0	0	0	0	0	1	11634	1596	56	3		3	PDE12	3	57542940	Silent	SNP	T	TCGA-B0-5104-01A-01D-1421-08	2	57542940	140479490	15	11677	90	2									
HSD17B11	51170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	88303419	88303419	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr4:88303419G>A	ENST00000358290.4	-	2	621	c.306C>T	c.(304-306)agC>agT	p.S102S	HSD17B11_ENST00000507286.1_Silent_p.S102S	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	102					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)	p.S102S(1)		cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TCTTTGCAGAGCTGTAAATAT	0.433																																																1	Substitution - coding silent(1)	kidney(1)											204	207	206					4																	88303419		2203	4300	6503	SO:0001819	synonymous_variant	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.306C>T	4.37:g.88303419G>A			Q96HF6|Q9UKU4	Silent	SNP	ENST00000358290.4	37	CCDS3619.1																																																																																				0.433	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		A	88303419	G	A	88303419	2	1	187	1	0	0	0	0	0	0	0	1	7382	962	34	2		2	HSD17B11	4	88303419	Silent	SNP	G	TCGA-B0-5104-01A-01D-1421-08		88303419	102850857	16	11678											
EXOSC9	5393	hgsc.bcm.edu;ucsc.edu	37	4	122731151	122731151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr4:122731151delG	ENST00000243498.5	+	7	743	c.635delG	c.(634-636)cgafs	p.R212fs	EXOSC9_ENST00000512454.1_Frame_Shift_Del_p.R196fs|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Frame_Shift_Del_p.R212fs	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	212	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CCCAATGAACGAGAAGAACGT	0.393																																																0													184	169	174					4																	122731151		2203	4300	6503	SO:0001589	frameshift_variant	5393			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.635delG	4.37:g.122731151delG	ENSP00000243498:p.Arg212fs		Q12883|Q4W5P5|Q86Y41|Q86Y48	Frame_Shift_Del	DEL	ENST00000243498.5	37	CCDS3722.2																																																																																				0.393	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		-	122731151	G	-	122731151	7	5	187	1	0	1	0	1	0	0	0	0	5323	1058	37	0	661	0	EXOSC9	4	122731151	Frame_Shift_Del	DEL	G	TCGA-B0-5104-01A-01D-1421-08	34427732	122731151	68423125	17	11679											
RAPGEF2	9693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	160264133	160264133	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr4:160264133G>C	ENST00000264431.4	+	15	2857	c.2438G>C	c.(2437-2439)gGc>gCc	p.G813A		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	813	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.G801A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CCTCTCAGTGGCCTAAACCTG	0.368																																																1	Substitution - Missense(1)	kidney(1)											49	46	47					4																	160264133		1894	4110	6004	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2438G>C	4.37:g.160264133G>C	ENSP00000264431:p.Gly813Ala		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897544	0.91962	.	.	ENSG00000109756	ENST00000264431	T	0.28454	1.61	5.82	5.82	0.92795	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	L	0.41632	1.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47649	-0.9101	10	0.87932	D	0	.	20.0926	0.97825	0.0:0.0:1.0:0.0	.	813	Q9Y4G8	RPGF2_HUMAN	A	813	ENSP00000264431:G813A	ENSP00000264431:G813A	G	+	2	0	RAPGEF2	160483583	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.757000	0.98924	2.745000	0.94114	0.561000	0.74099	GGC		0.368	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		C	160264133	G	C	160264133	3	2	187	1	0	0	0	0	1	0	0	0	13050	1203	42	4	2496	4	RAPGEF2	4	160264133	Missense_Mutation	SNP	G	TCGA-B0-5104-01A-01D-1421-08	37532982	160264133	30890143	18	11680											
CARD6	84674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	40852478	40852478	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr5:40852478G>A	ENST00000254691.5	+	3	1243	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	348					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.K348K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCAGTCACAAGGTTCTGGATG	0.473																																																1	Substitution - coding silent(1)	kidney(1)											62	60	60					5																	40852478		2203	4300	6503	SO:0001819	synonymous_variant	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1044G>A	5.37:g.40852478G>A			Q52LR2	Silent	SNP	ENST00000254691.5	37	CCDS3935.1																																																																																				0.473	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			A	40852478	G	A	40852478	2	1	187	1	0	0	0	0	0	0	0	1	2652	991	35	2		2	CARD6	5	40852478	Silent	SNP	G	TCGA-B0-5104-01A-01D-1421-08		40852478	140062782	19	11681											
GRIA1	2890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	153077687	153077687	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr5:153077687C>A	ENST00000285900.5	+	9	1561	c.1218C>A	c.(1216-1218)aaC>aaA	p.N406K	GRIA1_ENST00000448073.4_Missense_Mutation_p.N416K|GRIA1_ENST00000518783.1_Missense_Mutation_p.N416K|GRIA1_ENST00000340592.5_Missense_Mutation_p.N406K|GRIA1_ENST00000518142.1_Missense_Mutation_p.N326K|GRIA1_ENST00000521843.2_Missense_Mutation_p.N337K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	406					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.N406K(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GTGTTCAGAACAGAACATACA	0.458																																																2	Substitution - Missense(2)	kidney(2)											100	91	94					5																	153077687		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1218C>A	5.37:g.153077687C>A	ENSP00000285900:p.Asn406Lys		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184428	0.78677	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.15139	2.48;2.45;2.48;2.46;2.46;2.46;2.47	5.56	-5.87	0.02297	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	M	0.91459	3.21	0.80722	D	1	D;D;P;D;D;D	0.61697	0.963;0.963;0.866;0.963;0.978;0.99	P;P;P;P;P;P	0.56751	0.643;0.643;0.566;0.643;0.805;0.677	T	0.63024	-0.6729	10	0.87932	D	0	.	16.4078	0.83697	0.0:0.7001:0.0:0.2999	.	416;416;326;416;406;406	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	K	406;406;326;360;406;337;337;416;416	ENSP00000285900:N406K;ENSP00000427920:N326K;ENSP00000339343:N406K;ENSP00000427864:N337K;ENSP00000442108:N337K;ENSP00000428994:N416K;ENSP00000415569:N416K	ENSP00000285900:N406K	N	+	3	2	GRIA1	153057880	0.485000	0.25972	0.884000	0.34674	0.989000	0.77384	-0.216000	0.09266	-0.862000	0.04089	-0.290000	0.09829	AAC		0.458	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			A	153077687	C	A	153077687	3	1	187	1	0	0	0	0	1	0	0	0	6769	477	17	4	1252	4	GRIA1	5	153077687	Missense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08	112225209	153077687	27837573	20	11682											
C6orf57	135154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	71289120	71289120	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr6:71289120C>T	ENST00000370474.3	+	2	92	c.68C>T	c.(67-69)tCa>tTa	p.S23L		NM_145267.2	NP_660310.2	Q5VUM1	SDHF4_HUMAN	chromosome 6 open reading frame 57	23					innate immune response (GO:0045087)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)		p.S23L(1)		kidney(1)|lung(1)|skin(1)	3						CTTCTAGGATCACCCCTTCTG	0.338																																																1	Substitution - Missense(1)	kidney(1)											83	84	84					6																	71289120		2203	4300	6503	SO:0001583	missense	135154			BC018085	CCDS4972.1	6q12	2011-12-13			ENSG00000154079	ENSG00000154079			20957	protein-coding gene	gene with protein product							Standard	NM_145267		Approved		uc003pfq.1	Q5VUM1	OTTHUMG00000014992	ENST00000370474.3:c.68C>T	6.37:g.71289120C>T	ENSP00000359505:p.Ser23Leu		E1P532	Missense_Mutation	SNP	ENST00000370474.3	37	CCDS4972.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951491	0.34471	.	.	ENSG00000154079	ENST00000370474	T	0.35421	1.31	5.36	2.52	0.30459	.	0.682593	0.14540	N	0.313349	T	0.10121	0.0248	L	0.27053	0.805	0.22330	N	0.9992	B	0.06786	0.001	B	0.08055	0.003	T	0.28170	-1.0052	10	0.39692	T	0.17	-6.2852	9.3817	0.38318	0.0:0.7498:0.0:0.2502	.	23	Q5VUM1	CF057_HUMAN	L	23	ENSP00000359505:S23L	ENSP00000359505:S23L	S	+	2	0	C6orf57	71345841	0.527000	0.26306	0.779000	0.31741	0.414000	0.31173	0.941000	0.29005	0.717000	0.32145	0.453000	0.30009	TCA		0.338	C6orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041140.1	NM_145267		T	71289120	C	T	71289120	3	4	187	1	0	0	0	0	1	0	0	0	2368	838	29	2	74	2	C6orf57	6	71289120	Missense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08		71289120	99825947	21	11683											
EIF2AK1	27102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6094303	6094303	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr7:6094303T>C	ENST00000199389.6	-	2	297	c.151A>G	c.(151-153)Aaa>Gaa	p.K51E	RNU6-218P_ENST00000517120.1_RNA|EIF2AK1_ENST00000536084.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	51					negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.K51E(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AGGGGTTCTTTTAACACCTGG	0.388																																																1	Substitution - Missense(1)	kidney(1)											104	102	103					7																	6094303		2203	4300	6503	SO:0001583	missense	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.151A>G	7.37:g.6094303T>C	ENSP00000199389:p.Lys51Glu		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	14.37	2.515346	0.44763	.	.	ENSG00000086232	ENST00000199389;ENST00000446699	T;T	0.13901	2.55;2.55	5.42	2.98	0.34508	.	0.206489	0.50627	D	0.000111	T	0.10294	0.0252	L	0.40543	1.245	0.58432	D	0.999999	P;B	0.36465	0.554;0.418	B;B	0.33521	0.165;0.079	T	0.13442	-1.0509	10	0.12103	T	0.63	-20.5858	12.1152	0.53861	0.0:0.0:0.2713:0.7287	.	51;51	Q9BQI3-2;Q9BQI3	.;E2AK1_HUMAN	E	51	ENSP00000199389:K51E;ENSP00000397590:K51E	ENSP00000199389:K51E	K	-	1	0	EIF2AK1	6060829	0.994000	0.37717	0.214000	0.23707	0.993000	0.82548	2.663000	0.46774	0.332000	0.23536	0.459000	0.35465	AAA		0.388	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		C	6094303	T	C	6094303	3	2	187	1	0	0	0	0	1	0	0	0	4998	1850	64	3	1797	3	EIF2AK1	7	6094303	Missense_Mutation	SNP	T	TCGA-B0-5104-01A-01D-1421-08		6094303	153044360	22	11684											
HDAC9	9734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	18688092	18688092	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr7:18688092G>T	ENST00000432645.2	+	10	1244	c.1244G>T	c.(1243-1245)gGa>gTa	p.G415V	HDAC9_ENST00000406072.1_Missense_Mutation_p.G402V|HDAC9_ENST00000401921.1_Missense_Mutation_p.G374V|HDAC9_ENST00000428307.2_Missense_Mutation_p.G371V|HDAC9_ENST00000406451.4_Missense_Mutation_p.G415V|HDAC9_ENST00000405010.3_Missense_Mutation_p.G415V|HDAC9_ENST00000524023.1_Missense_Mutation_p.G338V|HDAC9_ENST00000417496.2_Missense_Mutation_p.G413V|HDAC9_ENST00000441542.2_Missense_Mutation_p.G418V|HDAC9_ENST00000456174.2_Missense_Mutation_p.G387V	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	415					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G418V(2)|p.G413V(1)|p.G415V(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTTTCAGGTGGAGTTCCCTTA	0.418																																																4	Substitution - Missense(4)	kidney(4)											56	56	56					7																	18688092		1882	4115	5997	SO:0001583	missense	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1244G>T	7.37:g.18688092G>T	ENSP00000410337:p.Gly415Val		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730282	0.48939	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.59364	0.88;0.83;0.28;0.89;0.88;0.35;0.28;0.27;0.83;0.88	5.7	5.7	0.88788	.	0.108412	0.41396	D	0.000894	T	0.59985	0.2234	L	0.53249	1.67	0.58432	D	0.999996	B;B;B;P;B;P;B;P;P;B;B;P;B;D	0.53151	0.099;0.049;0.288;0.919;0.099;0.573;0.376;0.952;0.51;0.049;0.376;0.51;0.178;0.958	B;B;B;P;B;B;B;P;B;B;B;B;B;P	0.47015	0.025;0.024;0.22;0.534;0.04;0.294;0.09;0.492;0.273;0.026;0.09;0.273;0.053;0.528	T	0.62849	-0.6767	10	0.54805	T	0.06	-20.3872	15.6369	0.76961	0.0:0.1756:0.8244:0.0	.	338;387;415;402;413;415;418;374;418;415;387;415;415;393	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	V	413;416;415;415;371;402;374;415;418;387;338;415	ENSP00000401669:G413V;ENSP00000384382:G415V;ENSP00000384657:G415V;ENSP00000395655:G371V;ENSP00000384017:G402V;ENSP00000383912:G374V;ENSP00000410337:G415V;ENSP00000408617:G418V;ENSP00000388568:G387V;ENSP00000430036:G338V	ENSP00000262069:G416V	G	+	2	0	HDAC9	18654617	0.997000	0.39634	0.999000	0.59377	0.721000	0.41392	2.703000	0.47110	2.702000	0.92279	0.557000	0.71058	GGA		0.418	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			T	18688092	G	T	18688092	3	4	187	1	0	0	0	0	1	0	0	0	7016	1174	41	4	1291	4	HDAC9	7	18688092	Missense_Mutation	SNP	G	TCGA-B0-5104-01A-01D-1421-08	12593789	18688092	140450571	23	11685											
ZKSCAN1	7586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99631582	99631582	+	Missense_Mutation	SNP	G	G	T	rs193920886		TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr7:99631582G>T	ENST00000324306.6	+	6	1688	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.G272V|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.G449V	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G485V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATTCACACGGGGGAGAAACCC	0.478																																																1	Substitution - Missense(1)	kidney(1)											74	82	80					7																	99631582		2203	4300	6503	SO:0001583	missense	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1454G>T	7.37:g.99631582G>T	ENSP00000323148:p.Gly485Val		A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380040	0.82682	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.01599	4.74;4.74;4.74	5.08	5.08	0.68730	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000014	T	0.11879	0.0289	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00038	-1.2246	10	0.87932	D	0	.	16.3706	0.83357	0.0:0.0:1.0:0.0	.	485	P17029	ZKSC1_HUMAN	V	485;449;272	ENSP00000323148:G485V;ENSP00000409172:G449V;ENSP00000443508:G272V	ENSP00000323148:G485V	G	+	2	0	ZKSCAN1	99469518	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	5.568000	0.67385	2.802000	0.96397	0.563000	0.77884	GGG		0.478	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		T	99631582	G	T	99631582	3	4	187	1	0	0	0	0	1	0	0	0	17691	1232	43	4	1472	4	ZKSCAN1	7	99631582	Missense_Mutation	SNP	G	TCGA-B0-5104-01A-01D-1421-08	80943490	99631582	59507081	24	11686											
CSGALNACT1	55790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	19297429	19297429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr8:19297429C>A	ENST00000454498.2	-	6	1878	c.865G>T	c.(865-867)Gag>Tag	p.E289*	CSGALNACT1_ENST00000522854.1_Nonsense_Mutation_p.E289*|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Nonsense_Mutation_p.E289*|CSGALNACT1_ENST00000544602.1_Nonsense_Mutation_p.E289*|CSGALNACT1_ENST00000332246.6_Nonsense_Mutation_p.E289*	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	289					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.E289*(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCATCCTGCTCAATGCACATC	0.398																																																1	Substitution - Nonsense(1)	kidney(1)											129	107	114					8																	19297429		2203	4300	6503	SO:0001587	stop_gained	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.865G>T	8.37:g.19297429C>A	ENSP00000411816:p.Glu289*		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Nonsense_Mutation	SNP	ENST00000454498.2	37	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	C	41	9.070661	0.99055	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	.	.	.	5.71	4.83	0.62350	.	0.353016	0.33591	N	0.004744	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-20.8854	14.3447	0.66651	0.0:0.1565:0.8435:0.0	.	.	.	.	X	289	.	ENSP00000310891:E289X	E	-	1	0	CSGALNACT1	19341709	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	3.554000	0.53720	1.415000	0.47037	-0.165000	0.13383	GAG		0.398	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		A	19297429	C	A	19297429	4	1	187	1	0	0	0	0	0	1	0	0	3940	835	29	4	753	4	CSGALNACT1	8	19297429	Nonsense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08		19297429	127066593	25	11687											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113358405	113358405	+	Silent	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr8:113358405C>A	ENST00000297405.5	-	41	6607	c.6363G>T	c.(6361-6363)gtG>gtT	p.V2121V	CSMD3_ENST00000343508.3_Silent_p.V2081V|CSMD3_ENST00000455883.2_Silent_p.V2017V|CSMD3_ENST00000352409.3_Silent_p.V2051V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2121	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V2121V(1)|p.V2081V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GACTGAGGATCACACCACTGA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - coding silent(2)	kidney(2)											110	110	110					8																	113358405		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6363G>T	8.37:g.113358405C>A			Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113358405	C	A	113358405	2	1	187	1	0	0	0	0	0	0	0	1	3948	813	29	4		4	CSMD3	8	113358405	Silent	SNP	C	TCGA-B0-5104-01A-01D-1421-08	94060976	113358405	33005617	26	11688											
ZC3H3	23144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144620458	144620458	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr8:144620458T>G	ENST00000262577.5	-	2	1110	c.1079A>C	c.(1078-1080)aAg>aCg	p.K360T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	360					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K360T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTCCTGGGCTTGGGCTCTGG	0.622																																																1	Substitution - Missense(1)	kidney(1)											55	57	57					8																	144620458		2201	4293	6494	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1079A>C	8.37:g.144620458T>G	ENSP00000262577:p.Lys360Thr		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539028	0.45176	.	.	ENSG00000014164	ENST00000262577	T	0.05258	3.47	5.28	0.379	0.16213	.	0.403987	0.24438	N	0.038532	T	0.09335	0.0230	L	0.59436	1.845	0.09310	N	1	D	0.63880	0.993	P	0.49637	0.617	T	0.14671	-1.0464	10	0.66056	D	0.02	-13.9413	5.2812	0.15676	0.0:0.3139:0.145:0.5411	.	360	Q8IXZ2	ZC3H3_HUMAN	T	360	ENSP00000262577:K360T	ENSP00000262577:K360T	K	-	2	0	ZC3H3	144691601	0.445000	0.25657	0.435000	0.26784	0.759000	0.43091	0.638000	0.24674	0.044000	0.15775	0.533000	0.62120	AAG		0.622	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		G	144620458	T	G	144620458	3	3	187	1	0	0	0	0	1	0	0	0	17574	1609	56	5	1811	5	ZC3H3	8	144620458	Missense_Mutation	SNP	T	TCGA-B0-5104-01A-01D-1421-08	31262053	144620458	1743564	27	11689											
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	16911671	16911671	+	Missense_Mutation	SNP	C	C	G	rs148491916	byFrequency	TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr10:16911671C>G	ENST00000377833.4	-	59	9483	c.9418G>C	c.(9418-9420)Gca>Cca	p.A3140P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3140	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.A3140P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCCTTTTGCTGTCTGAAAT	0.423																																																1	Substitution - Missense(1)	kidney(1)											157	170	166					10																	16911671		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9418G>C	10.37:g.16911671C>G	ENSP00000367064:p.Ala3140Pro		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105359	0.37145	.	.	ENSG00000107611	ENST00000377833	T	0.19105	2.17	5.69	5.69	0.88448	CUB (5);	0.000000	0.44902	D	0.000403	T	0.44685	0.1305	M	0.89840	3.065	0.80722	D	1	P	0.47910	0.902	P	0.52710	0.707	T	0.44620	-0.9316	10	0.33940	T	0.23	.	13.5352	0.61643	0.156:0.8439:0.0:0.0	.	3140	O60494	CUBN_HUMAN	P	3140	ENSP00000367064:A3140P	ENSP00000367064:A3140P	A	-	1	0	CUBN	16951677	0.994000	0.37717	0.953000	0.39169	0.125000	0.20455	3.808000	0.55598	2.688000	0.91661	0.650000	0.86243	GCA		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	16911671	C	G	16911671	3	3	187	1	0	0	0	0	1	0	0	0	4053	797	28	4	1489	4	CUBN	10	16911671	Missense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08		16911671	118623076	28	11690											
BMS1	9790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	43292488	43292488	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr10:43292488C>T	ENST00000374518.5	+	10	1859	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	599					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S599L(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAAGCTCCTCACTCAGTGCA	0.458																																																1	Substitution - Missense(1)	kidney(1)											67	69	68					10																	43292488		2203	4300	6503	SO:0001583	missense	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1796C>T	10.37:g.43292488C>T	ENSP00000363642:p.Ser599Leu		Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	c	8.917	0.960133	0.18507	.	.	ENSG00000165733	ENST00000374518	T	0.27104	1.69	4.68	2.74	0.32292	.	0.772618	0.12678	N	0.448225	T	0.15739	0.0379	N	0.22421	0.69	0.09310	N	1	B	0.32245	0.361	B	0.31812	0.136	T	0.23013	-1.0200	10	0.27082	T	0.32	.	7.4971	0.27496	0.1702:0.7439:0.0:0.0859	.	599	Q14692	BMS1_HUMAN	L	599	ENSP00000363642:S599L	ENSP00000363642:S599L	S	+	2	0	BMS1	42612494	0.052000	0.20516	0.008000	0.14137	0.837000	0.47467	0.858000	0.27845	0.460000	0.27045	0.549000	0.68633	TCA		0.458	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		T	43292488	C	T	43292488	3	4	187	1	0	0	0	0	1	0	0	0	1472	838	29	2	1830	2	BMS1	10	43292488	Missense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08	26380817	43292488	92242259	29	11691											
ERCC6	2074	hgsc.bcm.edu	37	10	50732231	50732231	+	Silent	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr10:50732231C>T	ENST00000355832.5	-	5	1323	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	ERCC6-PGBD3_ENST00000515869.1_Silent_p.K415K|PGBD3_ENST00000374127.3_5'UTR|PGBD3_ENST00000603152.1_Silent_p.K415K|ERCC6-PGBD3_ENST00000447839.2_Silent_p.K415K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	415					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGGCACTTTCTTCTGCCGTT	0.552								Direct reversal of damage;Nucleotide excision repair (NER)																																								0													102	101	101					10																	50732231		2203	4300	6503	SO:0001819	synonymous_variant	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1245G>A	10.37:g.50732231C>T			D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	CCDS7229.1																																																																																				0.552	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		T	50732231	C	T	50732231	2	4	187	1	0	0	0	0	0	0	0	1	5219	912	32	2		2	ERCC6	10	50732231	Silent	SNP	C	TCGA-B0-5104-01A-01D-1421-08	7439743	50732231	84802516	30	11692											
NRAP	4892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	115356916	115356916	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr10:115356916T>G	ENST00000359988.3	-	37	4604	c.4360A>C	c.(4360-4362)Atc>Ctc	p.I1454L	NRAP_ENST00000369358.4_Missense_Mutation_p.I1462L|NRAP_ENST00000360478.3_Missense_Mutation_p.I1419L|NRAP_ENST00000369360.3_Missense_Mutation_p.I1427L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.I1454L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTGAACTTGATACTGTCTGGT	0.453																																																1	Substitution - Missense(1)	kidney(1)											319	286	297					10																	115356916		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4360A>C	10.37:g.115356916T>G	ENSP00000353078:p.Ile1454Leu			Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	4.053	0.007608	0.07866	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.15372	2.65;2.7;2.52;2.43	5.99	3.6	0.41247	.	0.213391	0.43416	N	0.000573	T	0.05181	0.0138	N	0.01874	-0.695	0.31728	N	0.637464	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.0;0.001;0.003;0.001	T	0.37291	-0.9712	10	0.02654	T	1	.	9.8948	0.41311	0.1068:0.0:0.4204:0.4728	.	612;1454;1419;1454	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	L	1462;1427;1454;1419;612	ENSP00000358365:I1462L;ENSP00000358367:I1427L;ENSP00000353078:I1454L;ENSP00000353666:I1419L	ENSP00000353078:I1454L	I	-	1	0	NRAP	115346906	0.235000	0.23794	0.964000	0.40570	0.981000	0.71138	0.521000	0.22893	0.475000	0.27415	0.533000	0.62120	ATC		0.453	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		G	115356916	T	G	115356916	3	3	187	1	0	0	0	0	1	0	0	0	10640	1406	49	5	856	5	NRAP	10	115356916	Missense_Mutation	SNP	T	TCGA-B0-5104-01A-01D-1421-08	64624685	115356916	20177831	31	11693											
ZNF215	7762	broad.mit.edu;ucsc.edu	37	11	6977426	6977426	+	Silent	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr11:6977426C>A	ENST00000278319.5	+	7	1806	c.1218C>A	c.(1216-1218)ccC>ccA	p.P406P	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Silent_p.P406P	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	406					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P406P(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAGAGAAACCCTATAAATGCA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											75	73	74					11																	6977426		2201	4296	6497	SO:0001819	synonymous_variant	7762			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1218C>A	11.37:g.6977426C>A			Q96C84	Silent	SNP	ENST00000278319.5	37	CCDS7775.1																																																																																				0.398	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			A	6977426	C	A	6977426	2	1	187	1	0	0	0	0	0	0	0	1	17776	668	24	4		4	ZNF215	11	6977426	Silent	SNP	C	TCGA-B0-5104-01A-01D-1421-08		6977426	128029090	32	11694											
C11orf30	56946	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	76256949	76256949	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr11:76256949C>G	ENST00000529032.1	+	19	3382	c.3382C>G	c.(3382-3384)Ctg>Gtg	p.L1128V	C11orf30_ENST00000524490.1_Missense_Mutation_p.L1030V|C11orf30_ENST00000334736.3_Missense_Mutation_p.L1128V|C11orf30_ENST00000524767.1_Missense_Mutation_p.L1143V|C11orf30_ENST00000533248.1_Missense_Mutation_p.L1037V|C11orf30_ENST00000525038.1_Missense_Mutation_p.L1129V|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525919.1_Missense_Mutation_p.L1129V			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1128					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L1128V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TGTGCCTAAGCTGACATCACC	0.448																																																1	Substitution - Missense(1)	kidney(1)											92	86	88					11																	76256949		2200	4292	6492	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3382C>G	11.37:g.76256949C>G	ENSP00000432327:p.Leu1128Val		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292782	0.40594	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.5	3.6	0.41247	.	0.000000	0.64402	D	0.000001	T	0.52597	0.1744	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D	0.69078	0.993;0.993;0.993;0.997;0.993;0.997	D;D;D;D;D;D	0.72625	0.967;0.967;0.967;0.978;0.967;0.978	T	0.46275	-0.9203	9	0.30854	T	0.27	-5.5853	9.3908	0.38372	0.0:0.7677:0.0:0.2323	.	1037;1129;1143;1129;1030;1128	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	V	1030;1128;810;1143;1037;1129;1129;1128	.	ENSP00000334130:L1128V	L	+	1	2	C11orf30	75934597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.147000	0.42226	0.834000	0.34852	0.650000	0.86243	CTG		0.448	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		G	76256949	C	G	76256949	3	3	187	1	0	0	0	0	1	0	0	0	1638	796	28	4	3456	4	C11orf30	11	76256949	Missense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08	69279523	76256949	58749567	33	11695											
DLAT	1737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111915861	111915861	+	Splice_Site	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr11:111915861G>A	ENST00000280346.6	+	9	1856		c.e9-1		DLAT_ENST00000393051.1_Splice_Site|DLAT_ENST00000537636.1_Splice_Site	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase						cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TCCTCCCATAGGCTCCGGCAG	0.463																																																1	Unknown(1)	kidney(1)											160	162	161					11																	111915861		2201	4297	6498	SO:0001630	splice_region_variant	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1198-1G>A	11.37:g.111915861G>A			Q16783|Q53EP3	Splice_Site	SNP	ENST00000280346.6	37	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291203	0.40494	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	.	.	.	4.96	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7756	0.18277	0.1583:0.0:0.6844:0.1573	.	.	.	.	.	-1	.	.	.	+	.	.	DLAT	111421071	1.000000	0.71417	0.218000	0.23776	0.829000	0.46940	7.862000	0.87013	0.491000	0.27793	0.462000	0.41574	.		0.463	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931	Intron	A	111915861	G	A	111915861	5	1	187	1	0	0	0	0	0	0	1	0	4551	1014	35	2	1231	2	DLAT	11	111915861	Splice_Site	SNP	G	TCGA-B0-5104-01A-01D-1421-08	35658912	111915861	23090655	34	11696	91	2									
DLAT	1737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111915865	111915865	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr11:111915865C>G	ENST00000280346.6	+	9	1860	c.1201C>G	c.(1201-1203)Ccg>Gcg	p.P401A	DLAT_ENST00000393051.1_Missense_Mutation_p.P296A|DLAT_ENST00000537636.1_Missense_Mutation_p.P172A	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	401					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.P401A(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CCCATAGGCTCCGGCAGCTGT	0.458																																																1	Substitution - Missense(1)	kidney(1)											161	163	162					11																	111915865		2201	4297	6498	SO:0001583	missense	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1201C>G	11.37:g.111915865C>G	ENSP00000280346:p.Pro401Ala		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	3.597	-0.082384	0.07141	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.25749	2.14;2.28;2.19;1.78	5.72	3.76	0.43208	E3 binding (1);	0.393306	0.28130	N	0.016486	T	0.08714	0.0216	N	0.02379	-0.575	0.45594	D	0.998533	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.20806	-1.0264	10	0.05436	T	0.98	-1.8545	10.9489	0.47317	0.0:0.6271:0.3045:0.0684	.	401;296;401	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	A	401;296;233;172	ENSP00000280346:P401A;ENSP00000376771:P296A;ENSP00000433432:P233A;ENSP00000442427:P172A	ENSP00000280346:P401A	P	+	1	0	DLAT	111421075	0.619000	0.27059	0.986000	0.45419	0.384000	0.30261	1.626000	0.37039	0.654000	0.30846	0.462000	0.41574	CCG		0.458	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		G	111915865	C	G	111915865	3	3	187	1	0	0	0	0	1	0	0	0	4551	855	30	4	1235	4	DLAT	11	111915865	Missense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08	4	111915865	23090651	35	11697	91	2									
VWF	7450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6127762	6127762	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr12:6127762T>C	ENST00000261405.5	-	28	5076	c.4822A>G	c.(4822-4824)Acc>Gcc	p.T1608A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1608	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.T1608A(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGATTTCCGGTGACCATGTAG	0.612																																																1	Substitution - Missense(1)	kidney(1)											56	53	54					12																	6127762		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4822A>G	12.37:g.6127762T>C	ENSP00000261405:p.Thr1608Ala		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.228426	0.58777	.	.	ENSG00000110799	ENST00000261405	D	0.88201	-2.35	4.94	3.78	0.43462	von Willebrand factor, type A (3);	0.488214	0.17512	N	0.171569	D	0.91133	0.7208	H	0.96015	3.755	0.80722	D	1	B	0.31193	0.312	B	0.33454	0.164	D	0.91525	0.5237	10	0.72032	D	0.01	.	5.045	0.14479	0.1761:0.0965:0.0:0.7273	.	1608	P04275	VWF_HUMAN	A	1608	ENSP00000261405:T1608A	ENSP00000261405:T1608A	T	-	1	0	VWF	5998023	1.000000	0.71417	0.994000	0.49952	0.716000	0.41182	4.971000	0.63749	2.106000	0.64143	0.444000	0.29173	ACC		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		C	6127762	T	C	6127762	3	2	187	1	0	0	0	0	1	0	0	0	17251	1696	59	3	3719	3	VWF	12	6127762	Missense_Mutation	SNP	T	TCGA-B0-5104-01A-01D-1421-08		6127762	127724133	36	11698											
ADAMTS20	80070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	43771275	43771275	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr12:43771275G>A	ENST00000389420.3	-	32	4887	c.4888C>T	c.(4888-4890)Cgg>Tgg	p.R1630W		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1630	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1630W(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTATAGGCCGAAGTCGATGG	0.408																																																1	Substitution - Missense(1)	kidney(1)											133	123	126					12																	43771275		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4888C>T	12.37:g.43771275G>A	ENSP00000374071:p.Arg1630Trp		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	5.785	0.329103	0.10956	.	.	ENSG00000173157	ENST00000389420	T	0.60171	0.21	5.08	-1.6	0.08426	.	0.767160	0.11370	N	0.570964	T	0.38108	0.1028	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12041	-1.0563	10	0.46703	T	0.11	.	12.1205	0.53889	0.2723:0.0:0.7277:0.0	.	1630	P59510	ATS20_HUMAN	W	1630	ENSP00000374071:R1630W	ENSP00000374071:R1630W	R	-	1	2	ADAMTS20	42057542	0.000000	0.05858	0.088000	0.20740	0.023000	0.10783	0.139000	0.16036	-0.095000	0.12351	-0.290000	0.09829	CGG		0.408	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43771275	G	A	43771275	3	1	187	1	0	0	0	0	1	0	0	0	266	1057	37	1	875	1	ADAMTS20	12	43771275	Missense_Mutation	SNP	G	TCGA-B0-5104-01A-01D-1421-08	37643513	43771275	90080620	37	11699											
RND1	27289	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49251928	49251928	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr12:49251928A>T	ENST00000309739.5	-	5	680	c.550T>A	c.(550-552)Tcc>Acc	p.S184T		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	184					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)	p.S184T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						CACAGCATGGATGCCGTCCGA	0.552																																																1	Substitution - Missense(1)	kidney(1)											129	115	119					12																	49251928		2203	4300	6503	SO:0001583	missense	27289			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"ras homolog gene family, member S"	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.550T>A	12.37:g.49251928A>T	ENSP00000308461:p.Ser184Thr		A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	37	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	A	1.666	-0.510174	0.04231	.	.	ENSG00000172602	ENST00000550607;ENST00000309739	T;T	0.34472	3.32;1.36	5.1	5.1	0.69264	.	0.053929	0.85682	D	0.000000	T	0.09247	0.0228	N	0.00327	-1.64	0.48830	D	0.999715	B	0.17038	0.02	B	0.23150	0.044	T	0.32134	-0.9918	10	0.02654	T	1	-23.7611	11.1082	0.48216	0.8454:0.1546:0.0:0.0	.	184	Q92730	RND1_HUMAN	T	78;184	ENSP00000447059:S78T;ENSP00000308461:S184T	ENSP00000308461:S184T	S	-	1	0	RND1	47538195	0.959000	0.32827	0.940000	0.37924	0.806000	0.45545	2.375000	0.44283	2.231000	0.72958	0.454000	0.30748	TCC		0.552	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470		T	49251928	A	T	49251928	3	4	187	1	0	0	0	0	1	0	0	0	13425	333	12	5	152	5	RND1	12	49251928	Missense_Mutation	SNP	A	TCGA-B0-5104-01A-01D-1421-08	5480653	49251928	84599967	38	11700											
SCYL2	55681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100704845	100704845	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr12:100704845G>A	ENST00000360820.2	+	5	941	c.504G>A	c.(502-504)ttG>ttA	p.L168L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.L168L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TGTCATTCTTGCATAGCAGTG	0.284																																																1	Substitution - coding silent(1)	kidney(1)											98	99	99					12																	100704845		2203	4300	6503	SO:0001819	synonymous_variant	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.504G>A	12.37:g.100704845G>A			A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	CCDS9076.1																																																																																				0.284	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		A	100704845	G	A	100704845	2	1	187	1	0	0	0	0	0	0	0	1	13954	1310	46	2		2	SCYL2	12	100704845	Silent	SNP	G	TCGA-B0-5104-01A-01D-1421-08	51452917	100704845	33147050	39	11701											
SDSL	113675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113865886	113865886	+	Silent	SNP	T	T	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr12:113865886T>A	ENST00000403593.4	+	2	361	c.99T>A	c.(97-99)ccT>ccA	p.P33P	SDSL_ENST00000345635.4_Silent_p.P33P			Q96GA7	SDSL_HUMAN	serine dehydratase-like	33					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)	p.P33P(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						CGGGCATGCCTGTCTTCCTCA	0.612																																																1	Substitution - coding silent(1)	kidney(1)											57	49	52					12																	113865886		2203	4300	6503	SO:0001819	synonymous_variant	113675			AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.99T>A	12.37:g.113865886T>A				Silent	SNP	ENST00000403593.4	37	CCDS9170.1																																																																																				0.612	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		A	113865886	T	A	113865886	2	1	187	1	0	0	0	0	0	0	0	1	13982	1567	55	5		5	SDSL	12	113865886	Silent	SNP	T	TCGA-B0-5104-01A-01D-1421-08	13161041	113865886	19986009	40	11702											
RNASE11	122651	hgsc.bcm.edu;ucsc.edu	37	14	21052170	21052170	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr14:21052170delT	ENST00000610205.1	-	3	647	c.464delA	c.(463-465)aatfs	p.N155fs	RNASE11_ENST00000432835.2_Frame_Shift_Del_p.N155fs|RNASE11_ENST00000555841.1_Frame_Shift_Del_p.N155fs|RNASE11_ENST00000553849.1_Frame_Shift_Del_p.N155fs|RNASE11_ENST00000398008.2_Frame_Shift_Del_p.N155fs|RNASE11_ENST00000398009.2_Frame_Shift_Del_p.N155fs	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	155						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GCACACTGTATTTTCCAGTTC	0.498																																																0													96	82	87					14																	21052170		2203	4300	6503	SO:0001589	frameshift_variant	122651			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"Ribonucleases, RNase A"	19269	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 6"	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.464delA	14.37:g.21052170delT	ENSP00000476537:p.Asn155fs			Frame_Shift_Del	DEL	ENST00000610205.1	37	CCDS9553.1																																																																																				0.498	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		-	21052170	T	-	21052170	7	5	187	1	0	1	0	1	0	0	0	0	13407	1493	52	0	139	0	RNASE11	14	21052170	Frame_Shift_Del	DEL	T	TCGA-B0-5104-01A-01D-1421-08		21052170	86297370	41	11703											
DHRS4	10901	broad.mit.edu;hgsc.bcm.edu	37	14	24424292	24424292	+	Silent	SNP	G	G	T	rs533460137		TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr14:24424292G>T	ENST00000313250.5	+	2	380	c.177G>T	c.(175-177)gtG>gtT	p.V59V	DHRS4_ENST00000558263.1_Silent_p.V59V|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000382761.3_Silent_p.V41V|DHRS4_ENST00000397074.3_Silent_p.V59V|DHRS4_ENST00000397073.2_Silent_p.V41V|DHRS4_ENST00000397075.3_Silent_p.V59V|DHRS4_ENST00000558581.1_Silent_p.V59V|DHRS4_ENST00000421831.1_Silent_p.V41V|DHRS4_ENST00000559632.1_Silent_p.V59V|DHRS4_ENST00000543741.2_Silent_p.V59V|DHRS4_ENST00000308178.8_Silent_p.V41V	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	59					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.V59V(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGGCCCATGTGGTCGTCAGCA	0.657																																																1	Substitution - coding silent(1)	kidney(1)											54	61	59					14																	24424292		2203	4299	6502	SO:0001819	synonymous_variant	10901			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.177G>T	14.37:g.24424292G>T			B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	ENST00000313250.5	37	CCDS9605.1																																																																																				0.657	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			T	24424292	G	T	24424292	2	4	187	1	0	0	0	0	0	0	0	1	4494	1335	47	4		4	DHRS4	14	24424292	Silent	SNP	G	TCGA-B0-5104-01A-01D-1421-08	3372122	24424292	82925248	42	11704											
DACT1	51339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59112841	59112841	+	Silent	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr14:59112841C>T	ENST00000335867.4	+	4	1524	c.1500C>T	c.(1498-1500)aaC>aaT	p.N500N	DACT1_ENST00000395153.3_Silent_p.N463N|DACT1_ENST00000556859.1_Silent_p.N219N|DACT1_ENST00000541264.2_Silent_p.N219N			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	500					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.N500N(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CGCAGGAGAACAAAGTTGTAC	0.607																																																1	Substitution - coding silent(1)	kidney(1)											63	79	74					14																	59112841		2202	4300	6502	SO:0001819	synonymous_variant	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1500C>T	14.37:g.59112841C>T			A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	CCDS9736.1																																																																																				0.607	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		T	59112841	C	T	59112841	2	4	187	1	0	0	0	0	0	0	0	1	4224	477	17	2		2	DACT1	14	59112841	Silent	SNP	C	TCGA-B0-5104-01A-01D-1421-08	34688549	59112841	48236699	43	11705											
PSMC1	5700	broad.mit.edu	37	14	90730104	90730104	+	Silent	SNP	T	T	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr14:90730104T>G	ENST00000261303.8	+	5	481	c.378T>G	c.(376-378)tcT>tcG	p.S126S	PSMC1_ENST00000543772.2_Silent_p.S53S	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	126					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)|ATP catabolic process (GO:0006200)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)	p.S126S(1)		endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TGTCTACATCTGTGGGCTCAG	0.488																																																1	Substitution - coding silent(1)	kidney(1)											63	61	61					14																	90730104		2202	4280	6482	SO:0001819	synonymous_variant	5700			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.378T>G	14.37:g.90730104T>G			B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Silent	SNP	ENST00000261303.8	37	CCDS32139.1																																																																																				0.488	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802		G	90730104	T	G	90730104	2	3	187	1	0	0	0	0	0	0	0	1	12690	1567	55	5		5	PSMC1	14	90730104	Silent	SNP	T	TCGA-B0-5104-01A-01D-1421-08	31617263	90730104	16619436	44	11706											
TGM5	9333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43525807	43525807	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr15:43525807C>G	ENST00000220420.5	-	12	1961	c.1954G>C	c.(1954-1956)Gac>Cac	p.D652H	TGM5_ENST00000349114.4_Missense_Mutation_p.D570H	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	652					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D652H(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGCACACAGTCCTCAACCTGC	0.517																																																1	Substitution - Missense(1)	kidney(1)											109	107	108					15																	43525807		2203	4299	6502	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1954G>C	15.37:g.43525807C>G	ENSP00000220420:p.Asp652His		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	9.322	1.058401	0.19987	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.34472	1.36;1.36	5.86	1.8	0.24995	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.181729	0.47852	D	0.000211	T	0.35422	0.0931	M	0.66506	2.035	0.21652	N	0.999604	B;B	0.19583	0.037;0.011	B;B	0.26614	0.071;0.044	T	0.33701	-0.9858	10	0.54805	T	0.06	-14.9674	8.9813	0.35966	0.0:0.6776:0.0:0.3224	.	570;652	O43548-2;O43548	.;TGM5_HUMAN	H	652;570;651	ENSP00000220420:D652H;ENSP00000220419:D570H	ENSP00000220420:D652H	D	-	1	0	TGM5	41313099	0.000000	0.05858	0.014000	0.15608	0.392000	0.30506	-0.149000	0.10204	0.072000	0.16694	-0.136000	0.14681	GAC		0.517	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		G	43525807	C	G	43525807	3	3	187	1	0	0	0	0	1	0	0	0	15838	855	30	4	216	4	TGM5	15	43525807	Missense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08		43525807	59005585	45	11707											
CGNL1	84952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	57816796	57816796	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr15:57816796G>T	ENST00000281282.5	+	12	2964	c.2886G>T	c.(2884-2886)gaG>gaT	p.E962D	CTD-2515H24.4_ENST00000566990.1_lincRNA	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	962						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.E962D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACATTGTTGAGGCCTCCCGTA	0.537																																																1	Substitution - Missense(1)	kidney(1)											117	119	118					15																	57816796		2192	4292	6484	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2886G>T	15.37:g.57816796G>T	ENSP00000281282:p.Glu962Asp		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448362	0.26074	.	.	ENSG00000128849	ENST00000281282	T	0.77877	-1.13	5.48	1.31	0.21738	.	0.140379	0.33217	N	0.005142	T	0.69433	0.3110	L	0.53249	1.67	0.36111	D	0.844799	B	0.27765	0.188	B	0.26310	0.068	T	0.67457	-0.5666	10	0.44086	T	0.13	-33.5125	9.7281	0.40344	0.2933:0.0:0.7067:0.0	.	962	Q0VF96	CGNL1_HUMAN	D	962	ENSP00000281282:E962D	ENSP00000281282:E962D	E	+	3	2	CGNL1	55604088	0.998000	0.40836	0.776000	0.31678	0.338000	0.28826	0.414000	0.21164	0.247000	0.21414	-0.345000	0.07892	GAG		0.537	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		T	57816796	G	T	57816796	3	4	187	1	0	0	0	0	1	0	0	0	3306	991	35	4	2928	4	CGNL1	15	57816796	Missense_Mutation	SNP	G	TCGA-B0-5104-01A-01D-1421-08	14290989	57816796	44714596	46	11708											
ADAM10	102	broad.mit.edu;ucsc.edu	37	15	58938360	58938360	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr15:58938360C>T	ENST00000260408.3	-	6	1072	c.629G>A	c.(628-630)aGg>aAg	p.R210K	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	210					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.R210K(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		ACGTTTTTTCCTCAGAAGTTC	0.328																																																1	Substitution - Missense(1)	kidney(1)											108	98	101					15																	58938360		2191	4292	6483	SO:0001583	missense	102			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.629G>A	15.37:g.58938360C>T	ENSP00000260408:p.Arg210Lys		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314407	0.81358	.	.	ENSG00000137845	ENST00000260408;ENST00000396136	T	0.26957	1.7	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	M	0.81497	2.545	0.80722	D	1	B	0.32829	0.386	B	0.32805	0.153	T	0.18999	-1.0319	10	0.20046	T	0.44	-21.5184	19.3944	0.94601	0.0:1.0:0.0:0.0	.	210	O14672	ADA10_HUMAN	K	210;29	ENSP00000260408:R210K	ENSP00000260408:R210K	R	-	2	0	ADAM10	56725652	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.574000	0.86865	0.591000	0.81541	AGG		0.328	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		T	58938360	C	T	58938360	3	4	187	1	0	0	0	0	1	0	0	0	234	681	24	2	1661	2	ADAM10	15	58938360	Missense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08	1121564	58938360	43593032	47	11709											
CCNB2	9133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59409521	59409521	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr15:59409521C>T	ENST00000288207.2	+	7	1120	c.929C>T	c.(928-930)gCa>gTa	p.A310V	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	310					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.A310V(1)		kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						AAGGTAGCAGCAGCTGCTTCC	0.408																																																1	Substitution - Missense(1)	kidney(1)											114	104	107					15																	59409521		2191	4291	6482	SO:0001583	missense	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.929C>T	15.37:g.59409521C>T	ENSP00000288207:p.Ala310Val		B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833754	0.91036	.	.	ENSG00000157456	ENST00000288207	T	0.35048	1.33	5.45	5.45	0.79879	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.73001	0.3531	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.82546	-0.0403	10	0.87932	D	0	.	18.2661	0.90052	0.0:1.0:0.0:0.0	.	310	O95067	CCNB2_HUMAN	V	310	ENSP00000288207:A310V	ENSP00000288207:A310V	A	+	2	0	CCNB2	57196813	1.000000	0.71417	0.604000	0.28916	0.994000	0.84299	6.040000	0.70980	2.553000	0.86117	0.655000	0.94253	GCA		0.408	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		T	59409521	C	T	59409521	3	4	187	1	0	0	0	0	1	0	0	0	2915	710	25	2	955	2	CCNB2	15	59409521	Missense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08	471161	59409521	43121871	48	11710											
UBN1	29855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4924865	4924865	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr16:4924865G>A	ENST00000396658.4	+	14	3157	c.2454G>A	c.(2452-2454)acG>acA	p.T818T	UBN1_ENST00000262376.6_Silent_p.T818T|UBN1_ENST00000545171.1_Silent_p.T818T|UBN1_ENST00000590769.1_Silent_p.T818T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	818					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T818T(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAAACTTCACGCCCCCATCTC	0.582																																																1	Substitution - coding silent(1)	kidney(1)											69	72	71					16																	4924865		2197	4300	6497	SO:0001819	synonymous_variant	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2454G>A	16.37:g.4924865G>A			B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	CCDS10525.1																																																																																				0.582	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		A	4924865	G	A	4924865	2	1	187	1	0	0	0	0	0	0	0	1	16897	1074	38	1		1	UBN1	16	4924865	Silent	SNP	G	TCGA-B0-5104-01A-01D-1421-08		4924865	85429888	49	11711											
SH2B1	25970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28878735	28878735	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr16:28878735G>T	ENST00000322610.8	+	5	1462	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Missense_Mutation_p.E31D|SH2B1_ENST00000538342.1_Missense_Mutation_p.E5D|SH2B1_ENST00000337120.5_Missense_Mutation_p.E341D|SH2B1_ENST00000359285.5_Missense_Mutation_p.E341D|SH2B1_ENST00000395532.4_Missense_Mutation_p.E341D			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	341	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|PH.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.E341D(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTGACCGGGAGAACACGTTTG	0.567																																																2	Substitution - Missense(2)	kidney(2)											159	160	159					16																	28878735		2197	4300	6497	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1023G>T	16.37:g.28878735G>T	ENSP00000321221:p.Glu341Asp		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	9.891	1.204174	0.22205	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	4.28	0.943	0.19531	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.162980	0.37761	N	0.001959	T	0.26159	0.0638	N	0.17838	0.53	0.39533	D	0.968703	B;B;B;B;B	0.29646	0.008;0.253;0.038;0.038;0.035	B;B;B;B;B	0.42692	0.008;0.395;0.028;0.028;0.037	T	0.07046	-1.0793	10	0.29301	T	0.29	-31.4209	5.7137	0.17948	0.195:0.2812:0.5239:0.0	.	5;31;341;341;341	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	D	341;31;341;5;341;341	ENSP00000321221:E341D;ENSP00000440354:E31D;ENSP00000352232:E341D;ENSP00000438784:E5D;ENSP00000378903:E341D;ENSP00000337163:E341D	ENSP00000321221:E341D	E	+	3	2	SH2B1	28786236	0.858000	0.29795	1.000000	0.80357	0.975000	0.68041	-0.140000	0.10342	0.909000	0.36697	0.563000	0.77884	GAG		0.567	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		T	28878735	G	T	28878735	3	4	187	1	0	0	0	0	1	0	0	0	14233	933	33	4	1029	4	SH2B1	16	28878735	Missense_Mutation	SNP	G	TCGA-B0-5104-01A-01D-1421-08	23953870	28878735	61476018	50	11712											
CIAPIN1	57019	hgsc.bcm.edu	37	16	57468040	57468041	+	Frame_Shift_Ins	INS	-	-	TACA			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr16:57468040_57468041insTACA	ENST00000569979.1	-	4	517_518	c.471_472insTGTA	c.(469-474)gttcagfs	p.Q158fs	CIAPIN1_ENST00000394391.4_Frame_Shift_Ins_p.Q158fs|CIAPIN1_ENST00000565961.1_Frame_Shift_Ins_p.Q131fs|CIAPIN1_ENST00000567518.1_Frame_Shift_Ins_p.Q145fs|CIAPIN1_ENST00000568940.1_Frame_Shift_Ins_p.Q158fs|CIAPIN1_ENST00000569370.1_Frame_Shift_Ins_p.Q158fs|CIAPIN1_ENST00000569246.1_5'UTR					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CCTGTGATCTGAACAAACAGCA	0.48																																																0																																										SO:0001589	frameshift_variant	57019			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.471_472insTGTA	16.37:g.57468040_57468041insTACA	ENSP00000458000:p.Gln158fs			Frame_Shift_Ins	INS	ENST00000569979.1	37																																																																																					0.48	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		TACA	57468041	-	TACA	57468040	7	5	187	1	0	1	1	0	0	0	0	0	3421	1299	45	0	486	0	CIAPIN1	16	57468040	Frame_Shift_Ins	INS	-	TCGA-B0-5104-01A-01D-1421-08	28589305	57468040	32886713	51	11713											
MYH13	8735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10225010	10225010	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:10225010C>A	ENST00000418404.3	-	23	3113	c.2950G>T	c.(2950-2952)Gaa>Taa	p.E984*	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.E984*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	984					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E984*(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCATTTCTTCGGAAAGATTC	0.383																																																2	Substitution - Nonsense(2)	kidney(2)											124	107	112					17																	10225010		1825	4085	5910	SO:0001587	stop_gained	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2950G>T	17.37:g.10225010C>A	ENSP00000404570:p.Glu984*		O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	44	10.619036	0.99438	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.0067	0.86395	0.0:1.0:0.0:0.0	.	.	.	.	X	984;610	.	ENSP00000252172:E984X	E	-	1	0	MYH13	10165735	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.480000	0.81109	2.309000	0.77851	0.561000	0.74099	GAA		0.383	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		A	10225010	C	A	10225010	4	1	187	1	0	0	0	0	0	1	0	0	10034	893	31	4	2938	4	MYH13	17	10225010	Nonsense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08		10225010	70970200	52	11714											
MMP28	146853	broad.mit.edu	37	17	34093633	34093633	+	IGR	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:34093633G>A	ENST00000285023.4	+	0	1018					NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50									p.D482D(1)					Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCAGTAGCGGTCATCTCGGA	0.672																																																1	Substitution - coding silent(1)	kidney(1)											21	24	23					17																	34093633		2011	4165	6176	SO:0001628	intergenic_variant	79148			BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389		17.37:g.34093633G>A			Q6Q621	Silent	SNP	ENST00000285023.4	37	CCDS42298.1																																																																																				0.672	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449132.1	NM_145272		A	34093633	G	A	34093633	1	1	187	0	1	0	0	0	0	0	0	0	9667	1252	44	2		2	MMP28	17	34093633	IGR	SNP	G	TCGA-B0-5104-01A-01D-1421-08	23868623	34093633	47101577	53	11715											
G6PC	2538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41052960	41052960	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:41052960T>A	ENST00000253801.2	+	1	146	c.67T>A	c.(67-69)Tac>Aac	p.Y23N	G6PC_ENST00000585489.1_Missense_Mutation_p.Y23N|LINC00671_ENST00000301683.3_lincRNA|G6PC_ENST00000592383.1_Missense_Mutation_p.Y23N	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	23					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.Y23N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCAGGTGAATTACCAAGACTC	0.502																																																1	Substitution - Missense(1)	kidney(1)											129	102	111					17																	41052960		2203	4300	6503	SO:0001583	missense	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.67T>A	17.37:g.41052960T>A	ENSP00000253801:p.Tyr23Asn		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653302	0.88056	.	.	ENSG00000131482	ENST00000253801	T	0.76839	-1.05	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.86648	0.5983	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.76494	0.999;0.994	D;P	0.69824	0.966;0.832	D	0.87748	0.2590	10	0.59425	D	0.04	.	15.3534	0.74409	0.0:0.0:0.0:1.0	.	25;23	E7ENG5;P35575	.;G6PC_HUMAN	N	23	ENSP00000253801:Y23N	ENSP00000253801:Y23N	Y	+	1	0	G6PC	38306486	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	7.450000	0.80656	2.212000	0.71576	0.528000	0.53228	TAC		0.502	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		A	41052960	T	A	41052960	3	1	187	1	0	0	0	0	1	0	0	0	6145	1754	61	5	69	5	G6PC	17	41052960	Missense_Mutation	SNP	T	TCGA-B0-5104-01A-01D-1421-08	6959327	41052960	40142250	54	11716											
PPM1E	4591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57058007	57058007	+	IGR	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:57058007C>T	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.T628I	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T628I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GAGTTTCCCACTGCTTTCAAT	0.433									Mulibrey Nanism																																							1	Substitution - Missense(1)	kidney(1)											140	142	141					17																	57058007		2203	4300	6503	SO:0001628	intergenic_variant	22843	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57058007C>T			Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	C	9.786	1.176576	0.21704	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.18502	2.21	5.18	4.2	0.49525	.	0.684894	0.14000	N	0.348173	T	0.09512	0.0234	N	0.08118	0	0.19575	N	0.999969	B;B	0.12013	0.002;0.005	B;B	0.13407	0.001;0.009	T	0.22661	-1.0210	10	0.66056	D	0.02	0.4112	8.6623	0.34099	0.0:0.7653:0.1524:0.0823	.	637;628	Q8WY54-3;Q8WY54-2	.;.	I	628;479	ENSP00000312411:T628I	ENSP00000312411:T628I	T	+	2	0	PPM1E	54412789	0.978000	0.34361	0.996000	0.52242	0.947000	0.59692	2.525000	0.45598	1.151000	0.42436	0.491000	0.48974	ACT		0.433	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294		T	57058007	C	T	57058007	1	4	187	0	1	0	0	0	0	0	0	0	12343	565	20	2		2	PPM1E	17	57058007	IGR	SNP	C	TCGA-B0-5104-01A-01D-1421-08	16005047	57058007	24137203	55	11717											
RAB37	326624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72739479	72739479	+	Splice_Site	SNP	G	G	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:72739479G>T	ENST00000392613.5	+	5	422	c.366G>T	c.(364-366)agG>agT	p.R122S	RAB37_ENST00000528438.1_Splice_Site_p.R95S|RAB37_ENST00000392615.5_Splice_Site_p.R90S|RAB37_ENST00000392610.1_Splice_Site_p.R122S|RAB37_ENST00000392612.3_Splice_Site_p.R85S|RAB37_ENST00000340415.3_Splice_Site_p.R115S|RAB37_ENST00000392614.4_Splice_Site_p.R127S|RAB37_ENST00000402449.4_Splice_Site_p.R115S	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	122					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)	p.R115S(2)|p.R122S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						ACAACATCAGGGTAGGTCCTC	0.572																																																3	Substitution - Missense(3)	kidney(3)											213	171	185					17																	72739479		2203	4300	6503	SO:0001630	splice_region_variant	326624			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.366+1G>T	17.37:g.72739479G>T			A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022508	0.75275	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392612;ENST00000392610	T;T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	L	0.31120	0.905	0.80722	D	1	D;D;P;P;P;P;D	0.69078	0.972;0.997;0.759;0.929;0.924;0.851;0.992	P;P;P;P;P;P;P	0.62089	0.812;0.898;0.467;0.638;0.449;0.634;0.889	T	0.82577	-0.0388	10	0.54805	T	0.06	.	17.2219	0.86960	0.0:0.0:1.0:0.0	.	85;90;127;115;122;115;115	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2;A8MUU7	.;.;.;.;RAB37_HUMAN;.;.	S	115;115;115;115;95;90;127;122;122;85;122	ENSP00000341354:R115S;ENSP00000383934:R115S;ENSP00000432086:R95S;ENSP00000376391:R90S;ENSP00000376390:R127S;ENSP00000376389:R122S;ENSP00000376388:R85S;ENSP00000376387:R122S	ENSP00000341354:R115S	R	+	3	2	RAB37	70251074	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.340000	0.43974	2.357000	0.79964	0.650000	0.86243	AGG		0.572	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738	Missense_Mutation	T	72739479	G	T	72739479	5	4	187	1	0	0	0	0	0	0	1	0	12933	1246	43	4	687	4	RAB37	17	72739479	Splice_Site	SNP	G	TCGA-B0-5104-01A-01D-1421-08	15681472	72739479	8455731	56	11718											
TSEN54	283989	broad.mit.edu	37	17	73518055	73518055	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:73518055T>G	ENST00000333213.6	+	8	929	c.893T>G	c.(892-894)tTc>tGc	p.F298C		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	298					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)		p.F298C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCTGGAACTTCGAGCAGATC	0.706																																																1	Substitution - Missense(1)	kidney(1)											18	20	19					17																	73518055		2191	4294	6485	SO:0001583	missense	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.893T>G	17.37:g.73518055T>G	ENSP00000327487:p.Phe298Cys		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.537063	0.85812	.	.	ENSG00000182173	ENST00000333213	T	0.75704	-0.96	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.85358	0.5678	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86991	0.2110	10	0.72032	D	0.01	-8.3728	15.6093	0.76704	0.0:0.0:0.0:1.0	.	298	Q7Z6J9	SEN54_HUMAN	C	298	ENSP00000327487:F298C	ENSP00000327487:F298C	F	+	2	0	TSEN54	71029650	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.102000	0.77005	2.083000	0.62718	0.459000	0.35465	TTC		0.706	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		G	73518055	T	G	73518055	3	3	187	1	0	0	0	0	1	0	0	0	16619	1783	62	5	923	5	TSEN54	17	73518055	Missense_Mutation	SNP	T	TCGA-B0-5104-01A-01D-1421-08	778576	73518055	7677155	57	11719											
DSG3	1830	broad.mit.edu;ucsc.edu	37	18	29046612	29046612	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr18:29046612G>T	ENST00000257189.4	+	11	1614	c.1531G>T	c.(1531-1533)Gtc>Ttc	p.V511F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	511					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V511F(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCCGTGGTTGTCTCCGCTAG	0.448																																																1	Substitution - Missense(1)	kidney(1)											144	129	134					18																	29046612		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1531G>T	18.37:g.29046612G>T	ENSP00000257189:p.Val511Phe		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889881	0.72524	.	.	ENSG00000134757	ENST00000257189	T	0.62941	-0.01	5.73	4.85	0.62838	.	0.165433	0.27807	N	0.017776	T	0.72104	0.3419	M	0.68952	2.095	0.32081	N	0.5932	D	0.62365	0.991	P	0.59115	0.852	T	0.79147	-0.1923	10	0.87932	D	0	.	10.7674	0.46301	0.0733:0.1382:0.7885:0.0	.	511	P32926	DSG3_HUMAN	F	511	ENSP00000257189:V511F	ENSP00000257189:V511F	V	+	1	0	DSG3	27300610	0.952000	0.32445	0.409000	0.26459	0.018000	0.09664	1.437000	0.34991	1.395000	0.46643	0.585000	0.79938	GTC		0.448	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		T	29046612	G	T	29046612	3	4	187	1	0	0	0	0	1	0	0	0	4780	1377	48	4	1573	4	DSG3	18	29046612	Missense_Mutation	SNP	G	TCGA-B0-5104-01A-01D-1421-08		29046612	49030636	58	11720											
GIPC3	126326	broad.mit.edu;hgsc.bcm.edu	37	19	3586520	3586520	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr19:3586520A>T	ENST00000322315.5	+	2	298	c.253A>T	c.(253-255)Aaa>Taa	p.K85*		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	85								p.K85*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACAGCCACAAAGTGGACAT	0.592											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	kidney(1)											55	58	57					19																	3586520		2203	4300	6503	SO:0001587	stop_gained	126326			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.253A>T	19.37:g.3586520A>T	ENSP00000319254:p.Lys85*	612	O75227	Nonsense_Mutation	SNP	ENST00000322315.5	37	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	A	37	6.152751	0.97329	.	.	ENSG00000179855	ENST00000322315	.	.	.	3.49	3.49	0.39957	.	0.050891	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.9751	11.0049	0.47629	1.0:0.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000319254:K85X	K	+	1	0	GIPC3	3537520	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.438000	0.90305	1.463000	0.47967	0.459000	0.35465	AAA		0.592	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		T	3586520	A	T	3586520	4	4	187	1	0	0	0	0	0	1	0	0	6396	131	5	5	259	5	GIPC3	19	3586520	Nonsense_Mutation	SNP	A	TCGA-B0-5104-01A-01D-1421-08		3586520	55542463	59	11721											
TYK2	7297	broad.mit.edu;hgsc.bcm.edu	37	19	10475698	10475698	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr19:10475698G>A	ENST00000525621.1	-	8	1519	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N	TYK2_ENST00000529370.1_Silent_p.N346N|TYK2_ENST00000524462.1_Silent_p.N161N|TYK2_ENST00000264818.6_Silent_p.N346N	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	346	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.N346N(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGCTTGGGGGTTCCTGCCAC	0.622																																																1	Substitution - coding silent(1)	kidney(1)											21	22	22					19																	10475698		2203	4299	6502	SO:0001819	synonymous_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1038C>T	19.37:g.10475698G>A			Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	CCDS12236.1																																																																																				0.622	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			A	10475698	G	A	10475698	2	1	187	1	0	0	0	0	0	0	0	1	16815	1252	44	2		2	TYK2	19	10475698	Silent	SNP	G	TCGA-B0-5104-01A-01D-1421-08	6889178	10475698	48653285	60	11722											
XRN2	22803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	21336744	21336744	+	Missense_Mutation	SNP	G	G	C	rs377309279		TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr20:21336744G>C	ENST00000377191.3	+	22	2142	c.2047G>C	c.(2047-2049)Gtc>Ctc	p.V683L	XRN2_ENST00000430571.2_Missense_Mutation_p.V607L|XRN2_ENST00000539513.1_Missense_Mutation_p.V629L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	683					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V683L(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGAGGTGATGTCTTATTTGT	0.383																																																1	Substitution - Missense(1)	kidney(1)											136	131	132					20																	21336744		2203	4300	6503	SO:0001583	missense	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2047G>C	20.37:g.21336744G>C	ENSP00000366396:p.Val683Leu		Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829138	0.32329	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.29142	1.58;1.58;1.58	5.93	5.93	0.95920	.	0.245802	0.39909	N	0.001222	T	0.19327	0.0464	L	0.28274	0.84	0.44030	D	0.996753	B	0.11235	0.004	B	0.06405	0.002	T	0.05386	-1.0888	10	0.02654	T	1	-14.7513	13.5351	0.61643	0.0709:0.0:0.9291:0.0	.	683	Q9H0D6	XRN2_HUMAN	L	683;607;629	ENSP00000366396:V683L;ENSP00000413548:V607L;ENSP00000441113:V629L	ENSP00000366396:V683L	V	+	1	0	XRN2	21284744	0.943000	0.32029	0.413000	0.26509	0.664000	0.39144	1.120000	0.31271	2.814000	0.96858	0.591000	0.81541	GTC		0.383	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		C	21336744	G	C	21336744	3	2	187	1	0	0	0	0	1	0	0	0	17465	1377	48	4	2133	4	XRN2	20	21336744	Missense_Mutation	SNP	G	TCGA-B0-5104-01A-01D-1421-08		21336744	41688776	61	11723											
TFAP2C	7022	broad.mit.edu	37	20	55206674	55206674	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr20:55206674C>A	ENST00000201031.2	+	2	705	c.462C>A	c.(460-462)caC>caA	p.H154Q	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	154					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H154Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CCCACGCACACGCCCTGGATG	0.741																																																1	Substitution - Missense(1)	kidney(1)											6	7	6					20																	55206674		2164	4240	6404	SO:0001583	missense	7022				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.462C>A	20.37:g.55206674C>A	ENSP00000201031:p.His154Gln		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313449	0.60414	.	.	ENSG00000087510	ENST00000201031	T	0.80994	-1.44	5.59	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.86577	0.5966	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85825	0.1388	10	0.48119	T	0.1	-24.8872	8.8787	0.35360	0.0:0.7754:0.0:0.2246	.	154	Q92754	AP2C_HUMAN	Q	154	ENSP00000201031:H154Q	ENSP00000201031:H154Q	H	+	3	2	TFAP2C	54640081	1.000000	0.71417	0.999000	0.59377	0.336000	0.28762	1.024000	0.30077	1.362000	0.46000	0.491000	0.48974	CAC		0.741	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		A	55206674	C	A	55206674	3	1	187	1	0	0	0	0	1	0	0	0	15794	535	19	4	468	4	TFAP2C	20	55206674	Missense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08	33869930	55206674	7818846	62	11724											
SLC17A9	63910	broad.mit.edu	37	20	61594983	61594983	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr20:61594983T>A	ENST00000370351.4	+	7	904	c.773T>A	c.(772-774)cTc>cAc	p.L258H	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.L252H	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	258					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.L258H(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTCTTCATCCTCCTCTCCTGG	0.682																																																1	Substitution - Missense(1)	kidney(1)											54	59	57					20																	61594983		2144	4246	6390	SO:0001583	missense	63910			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.773T>A	20.37:g.61594983T>A	ENSP00000359376:p.Leu258His		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158294	0.57368	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.62105	0.05;0.05	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.065081	0.64402	D	0.000006	D	0.82765	0.5108	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.87086	0.2169	10	0.87932	D	0	.	14.4569	0.67423	0.0:0.0:0.0:1.0	.	278;258;252	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	H	258;252	ENSP00000359376:L258H;ENSP00000359374:L252H	ENSP00000359374:L252H	L	+	2	0	SLC17A9	61065428	1.000000	0.71417	0.999000	0.59377	0.051000	0.14879	7.045000	0.76585	1.819000	0.53055	0.260000	0.18958	CTC		0.682	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		A	61594983	T	A	61594983	3	1	187	1	0	0	0	0	1	0	0	0	14430	1551	54	5	799	5	SLC17A9	20	61594983	Missense_Mutation	SNP	T	TCGA-B0-5104-01A-01D-1421-08	6388309	61594983	1430537	63	11725											
KCNJ15	3772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	39671523	39671523	+	Missense_Mutation	SNP	C	C	G	rs372007819		TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr21:39671523C>G	ENST00000328656.4	+	4	643	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V	KCNJ15_ENST00000398930.1_Missense_Mutation_p.L114V|KCNJ15_ENST00000398938.2_Missense_Mutation_p.L114V|KCNJ15_ENST00000398932.1_Missense_Mutation_p.L114V|KCNJ15_ENST00000398934.1_Missense_Mutation_p.L114V	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	114					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.L114V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	AGTGGACTCTCTCACTGGGGC	0.488																																																1	Substitution - Missense(1)	kidney(1)											98	101	100					21																	39671523		2203	4300	6503	SO:0001583	missense	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.340C>G	21.37:g.39671523C>G	ENSP00000331698:p.Leu114Val		D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466395	0.63625	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.34	3.43	0.39272	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.070864	0.52532	D	0.000067	D	0.95658	0.8588	M	0.76002	2.32	0.50313	D	0.999866	D	0.59357	0.985	P	0.60286	0.872	D	0.94713	0.7894	9	.	.	.	.	9.5328	0.39205	0.0:0.7674:0.0:0.2326	.	114	Q99712	IRK15_HUMAN	V	114	ENSP00000331698:L114V;ENSP00000381902:L114V;ENSP00000381911:L114V;ENSP00000381905:L114V;ENSP00000414487:L114V;ENSP00000381904:L114V;ENSP00000381907:L114V;ENSP00000381901:L114V;ENSP00000400849:L114V	.	L	+	1	0	KCNJ15	38593393	0.988000	0.35896	0.970000	0.41538	0.924000	0.55760	2.733000	0.47360	1.335000	0.45486	0.655000	0.94253	CTC		0.488	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		G	39671523	C	G	39671523	3	3	187	1	0	0	0	0	1	0	0	0	8051	913	32	4	342	4	KCNJ15	21	39671523	Missense_Mutation	SNP	C	TCGA-B0-5104-01A-01D-1421-08		39671523	8458372	64	11726											
SLC16A8	23539	broad.mit.edu;hgsc.bcm.edu	37	22	38476983	38476983	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr22:38476983G>A	ENST00000320521.5	-	4	1170	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	354					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.G354G(1)		kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CGTAGGAGAGGCCGAAGGCGA	0.701																																																1	Substitution - coding silent(1)	kidney(1)											11	12	11					22																	38476983		2146	4180	6326	SO:0001819	synonymous_variant	23539			AF132610	CCDS13966.1	22q12.3-q13.2	2013-07-18	2013-07-18		ENSG00000100156	ENSG00000100156		"Solute carriers"	16270	protein-coding gene	gene with protein product	"monocarboxylate transporter 3"	610409	"solute carrier 16 (monocarboxylic acid transporters), member 8"			10493836	Standard	NM_013356		Approved	MCT3, REMP	uc003auu.3	O95907	OTTHUMG00000151196	ENST00000320521.5:c.1062C>T	22.37:g.38476983G>A			Q9UBE2	Silent	SNP	ENST00000320521.5	37	CCDS13966.1																																																																																				0.701	SLC16A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321724.1	NM_013356		A	38476983	G	A	38476983	2	1	187	1	0	0	0	0	0	0	0	1	14420	1190	42	2		2	SLC16A8	22	38476983	Silent	SNP	G	TCGA-B0-5104-01A-01D-1421-08		38476983	12827583	65	11727											
OPHN1	4983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	67273543	67273543	+	Silent	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chrX:67273543C>T	ENST00000355520.5	-	22	2909	c.2268G>A	c.(2266-2268)aaG>aaA	p.K756K	OPHN1_ENST00000540071.1_Silent_p.K648K	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	756	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.K756K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTGGTTCTGGCTTTTGGGGAG	0.542																																																1	Substitution - coding silent(1)	kidney(1)											100	74	83					X																	67273543		2203	4300	6503	SO:0001819	synonymous_variant	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2268G>A	X.37:g.67273543C>T			B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	ENST00000355520.5	37	CCDS14388.1																																																																																				0.542	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		T	67273543	C	T	67273543	2	4	187	1	0	0	0	0	0	0	0	1	10877	796	28	2		2	OPHN1	23	67273543	Silent	SNP	C	TCGA-B0-5104-01A-01D-1421-08		67273543	87997017	66	11728											
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	A	rs5030807		TCGA-B0-5104-01A-01W-1475-10	TCGA-B0-5104-11A-01W-1475-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	614ee01f-3f1c-4241-8d9c-b6dee2649f1e	1102ff69-bd41-4e6d-9b0d-9e19bd3c3dbb	g.chr3:10183797T>A	ENST00000256474.2	+	1	1106	c.266T>A	c.(265-267)cTc>cAc	p.L89H	VHL_ENST00000345392.2_Missense_Mutation_p.L89H|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13	16	15					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>A	3.37:g.10183797T>A	ENSP00000256474:p.Leu89His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986585	0.93106	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99576	0.9847	L	0.41492	1.28	0.33129	D	0.542832	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.957	D	0.97755	1.0217	10	0.87932	D	0	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	.	89;89	P40337-2;P40337	.;VHL_HUMAN	H	89	ENSP00000256474:L89H;ENSP00000344757:L89H	ENSP00000256474:L89H	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183797	T	A	10183797	3	1	188	1	0	0	0	0	1	0	0	0	17167	1551	54	5	268	5	VHL	3	10183797	Missense_Mutation	SNP	T	TCGA-B0-5104-01A-01W-1475-10		10183797	187838633	1	11729											
COL8A2	1296	hgsc.bcm.edu	37	1	36563461	36563462	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr1:36563461_36563462insG	ENST00000397799.1	-	4	2044_2045	c.1820_1821insC	c.(1819-1821)ccafs	p.P607fs	COL8A2_ENST00000303143.4_Frame_Shift_Ins_p.P607fs|COL8A2_ENST00000481785.1_Frame_Shift_Ins_p.P542fs			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	607	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCAGTGGCTGGGTTGTAGCC	0.604																																																0																																										SO:0001589	frameshift_variant	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1821dupC	1.37:g.36563464_36563464dupG	ENSP00000380901:p.Pro607fs		Q5JV31|Q8TEJ5	Frame_Shift_Ins	INS	ENST00000397799.1	37	CCDS403.1																																																																																				0.604	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		G	36563462	-	G	36563461	7	5	189	1	0	1	1	0	0	0	0	0	3708	1567	55	0	294	0	COL8A2	1	36563461	Frame_Shift_Ins	INS	-	TCGA-B0-5106-01A-01D-1421-08		36563461	212687160	1	11730											
ZSWIM5	57643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	45506168	45506168	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr1:45506168G>T	ENST00000359600.5	-	7	1857	c.1652C>A	c.(1651-1653)tCc>tAc	p.S551Y		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	551						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.S551Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATAACCATGGGAACGCAGGGC	0.448																																																1	Substitution - Missense(1)	kidney(1)											82	76	78					1																	45506168		1899	4114	6013	SO:0001583	missense	57643			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1652C>A	1.37:g.45506168G>T	ENSP00000352614:p.Ser551Tyr		Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636508	0.87760	.	.	ENSG00000162415	ENST00000359600	T	0.57436	0.4	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.76997	-0.2751	10	0.72032	D	0.01	-11.491	18.4215	0.90592	0.0:0.0:1.0:0.0	.	551	Q9P217	ZSWM5_HUMAN	Y	551	ENSP00000352614:S551Y	ENSP00000352614:S551Y	S	-	2	0	ZSWIM5	45278755	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.420000	0.97426	2.523000	0.85059	0.655000	0.94253	TCC		0.448	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		T	45506168	G	T	45506168	3	4	189	1	0	0	0	0	1	0	0	0	18249	1174	41	4	1937	4	ZSWIM5	1	45506168	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	8942707	45506168	203744453	2	11731											
GLIS1	148979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53972295	53972295	+	Silent	SNP	G	G	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr1:53972295G>T	ENST00000312233.2	-	10	2426	c.1860C>A	c.(1858-1860)acC>acA	p.T620T		NM_147193.2	NP_671726.2			GLIS family zinc finger 1									p.T620T(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGCTCCTTCAGGTGTCTGTGT	0.637																																																1	Substitution - coding silent(1)	kidney(1)											63	60	61					1																	53972295		2203	4300	6503	SO:0001819	synonymous_variant	148979			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1860C>A	1.37:g.53972295G>T				Silent	SNP	ENST00000312233.2	37	CCDS582.1																																																																																				0.637	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		T	53972295	G	T	53972295	2	4	189	1	0	0	0	0	0	0	0	1	6447	987	35	4		4	GLIS1	1	53972295	Silent	SNP	G	TCGA-B0-5106-01A-01D-1421-08	8466127	53972295	195278326	3	11732											
LPPR4	9890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	99771417	99771417	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr1:99771417A>T	ENST00000370185.3	+	7	1640	c.1143A>T	c.(1141-1143)agA>agT	p.R381S	LPPR4_ENST00000370184.1_Missense_Mutation_p.R223S|LPPR4_ENST00000457765.1_Missense_Mutation_p.R323S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		381					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.R381S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAAACCACAGAGATGCTAGCT	0.458																																																1	Substitution - Missense(1)	kidney(1)											86	84	84					1																	99771417		2203	4300	6503	SO:0001583	missense	9890																														ENST00000370185.3:c.1143A>T	1.37:g.99771417A>T	ENSP00000359204:p.Arg381Ser		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947872	0.34377	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.30182	2.09;1.78;1.54	5.71	2.03	0.26663	.	0.178903	0.47455	D	0.000222	T	0.25680	0.0625	L	0.60455	1.87	0.54753	D	0.999984	B;D	0.55605	0.131;0.972	B;P	0.56398	0.033;0.797	T	0.02713	-1.1120	9	.	.	.	-19.3123	7.6191	0.28175	0.6628:0.2672:0.0699:0.0	.	323;381	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	S	381;323;381;223	ENSP00000359204:R381S;ENSP00000394913:R323S;ENSP00000359203:R223S	.	R	+	3	2	RP4-788L13.1	99544005	1.000000	0.71417	0.995000	0.50966	0.195000	0.23768	1.314000	0.33597	0.087000	0.17167	-0.323000	0.08544	AGA		0.458	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			T	99771417	A	T	99771417	3	4	189	1	0	0	0	0	1	0	0	0	8929	301	11	5	1169	5	LPPR4	1	99771417	Missense_Mutation	SNP	A	TCGA-B0-5106-01A-01D-1421-08	45799122	99771417	149479204	4	11733											
CDC14A	8556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100928332	100928332	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr1:100928332T>C	ENST00000336454.3	+	9	1088	c.733T>C	c.(733-735)Tat>Cat	p.Y245H	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.Y245H|CDC14A_ENST00000542213.1_Missense_Mutation_p.Y187H|CDC14A_ENST00000544534.1_Missense_Mutation_p.Y245H|CDC14A_ENST00000370124.3_Missense_Mutation_p.Y245H|RP5-837M10.4_ENST00000432210.1_RNA	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	245	B.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y245H(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTTCGAGCACTATGACCTCTT	0.473																																																1	Substitution - Missense(1)	kidney(1)											91	81	84					1																	100928332		2203	4300	6503	SO:0001583	missense	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.733T>C	1.37:g.100928332T>C	ENSP00000336739:p.Tyr245His		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250473	0.59212	.	.	ENSG00000079335	ENST00000542213;ENST00000455467;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.78	4.66	0.58398	Dual specificity phosphatase, catalytic domain (1);	0.103679	0.64402	D	0.000002	T	0.03564	0.0102	N	0.02842	-0.48	0.50313	D	0.999864	B;B;B;B;B	0.09022	0.001;0.002;0.001;0.001;0.0	B;B;B;B;B	0.16289	0.002;0.015;0.013;0.005;0.004	T	0.33317	-0.9873	10	0.09084	T	0.74	-10.4471	11.2334	0.48925	0.0:0.0711:0.0:0.9289	.	187;245;245;245;245	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	H	187;246;245;245;245;245	ENSP00000442640:Y187H;ENSP00000388501:Y246H;ENSP00000354916:Y245H;ENSP00000359142:Y245H;ENSP00000336739:Y245H;ENSP00000442543:Y245H	ENSP00000336739:Y245H	Y	+	1	0	CDC14A	100700920	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	1.552000	0.36244	2.201000	0.70794	0.459000	0.35465	TAT		0.473	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		C	100928332	T	C	100928332	3	2	189	1	0	0	0	0	1	0	0	0	3058	1522	53	3	767	3	CDC14A	1	100928332	Missense_Mutation	SNP	T	TCGA-B0-5106-01A-01D-1421-08	1156915	100928332	148322289	5	11734											
HBXIP	10542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110948984	110948984	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr1:110948984A>G	ENST00000602318.1	-	2	140	c.53T>C	c.(52-54)aTt>aCt	p.I18T	LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.I100T|LAMTOR5_ENST00000483260.1_Missense_Mutation_p.I17T|LAMTOR5_ENST00000474861.2_Missense_Mutation_p.I17T|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5_ENST00000602858.1_Missense_Mutation_p.I6T|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	18					cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)		p.I100T(1)									GACTCCAACAATGGAGGGATT	0.368																																																1	Substitution - Missense(1)	kidney(1)											116	103	108					1																	110948984		2203	4300	6503	SO:0001583	missense	0			AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)"	608521	"hepatitis B virus x interacting protein"	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568	ENST00000602318.1:c.53T>C	1.37:g.110948984A>G	ENSP00000473439:p.Ile18Thr		Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37		.	.	.	.	.	.	.	.	.	.	A	14.87	2.664944	0.47572	.	.	ENSG00000134248	ENST00000483260;ENST00000474861;ENST00000256644	.	.	.	4.88	4.88	0.63580	.	0.127278	0.52532	D	0.000067	T	0.39627	0.1085	.	.	.	0.46376	D	0.99901	B	0.06786	0.001	B	0.06405	0.002	T	0.39742	-0.9599	8	0.44086	T	0.13	-15.2352	14.1734	0.65525	1.0:0.0:0.0:0.0	.	18	O43504	HBXIP_HUMAN	T	17;17;100	.	ENSP00000256644:I100T	I	-	2	0	HBXIP	110750507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.800000	0.85949	2.131000	0.65755	0.533000	0.62120	ATT		0.368	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		G	110948984	A	G	110948984	3	3	189	1	0	0	0	0	1	0	0	0	6990	101	4	3	234	3	HBXIP	1	110948984	Missense_Mutation	SNP	A	TCGA-B0-5106-01A-01D-1421-08	10020652	110948984	138301637	6	11735											
GON4L	54856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155730387	155730387	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr1:155730387G>T	ENST00000368331.1	-	24	5005	c.4957C>A	c.(4957-4959)Ctt>Att	p.L1653I	GON4L_ENST00000437809.1_Missense_Mutation_p.L1653I|GON4L_ENST00000271883.5_Missense_Mutation_p.L1653I	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1653	PAH 1. {ECO:0000255|PROSITE- ProRule:PRU00810}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L1653I(2)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGACTTGAAGGAAGTCTTCA	0.463																																																2	Substitution - Missense(2)	kidney(2)											121	114	116					1																	155730387		1875	4114	5989	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4957C>A	1.37:g.155730387G>T	ENSP00000357315:p.Leu1653Ile		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.984742	0.74474	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.13657	2.57;2.57;2.57	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000005	T	0.19087	0.0458	L	0.32530	0.975	0.41166	D	0.986138	D;D;D	0.76494	0.969;0.999;0.999	P;D;D	0.70227	0.793;0.968;0.945	T	0.01413	-1.1361	10	0.44086	T	0.13	.	18.3285	0.90261	0.0:0.0:1.0:0.0	.	849;1653;1653	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	I	1653	ENSP00000396117:L1653I;ENSP00000357315:L1653I;ENSP00000271883:L1653I	ENSP00000271883:L1653I	L	-	1	0	GON4L	153997011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.847000	0.62867	2.654000	0.90174	0.655000	0.94253	CTT		0.463	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		T	155730387	G	T	155730387	3	4	189	1	0	0	0	0	1	0	0	0	6574	1000	35	4	1801	4	GON4L	1	155730387	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	44781403	155730387	93520234	7	11736											
C1orf129	80133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	170965678	170965678	+	Silent	SNP	G	G	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr1:170965678G>T	ENST00000367758.3	+	14	1467	c.1368G>T	c.(1366-1368)ctG>ctT	p.L456L	MROH9_ENST00000367759.4_Silent_p.L456L	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	456								p.L456L(2)									GAGTTCTGCTGAATTGTTCTG	0.418																																																2	Substitution - coding silent(2)	kidney(2)											149	143	145					1																	170965678		1878	4111	5989	SO:0001819	synonymous_variant	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1368G>T	1.37:g.170965678G>T			A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	8.589	0.884128	0.17467	.	.	ENSG00000117501	ENST00000426136	.	.	.	5.75	0.451	0.16629	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.4043	5.2698	0.15618	0.3153:0.1376:0.5471:0.0	.	.	.	.	X	63	.	.	E	+	1	0	C1orf129	169232302	0.817000	0.29147	0.934000	0.37439	0.847000	0.48162	-0.046000	0.11983	-0.154000	0.11118	-0.136000	0.14681	GAA		0.418	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		T	170965678	G	T	170965678	2	4	189	1	0	0	0	0	0	0	0	1	1998	1277	45	4		4	C1orf129	1	170965678	Silent	SNP	G	TCGA-B0-5106-01A-01D-1421-08	15235291	170965678	78284943	8	11737											
EPT1	85465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	26587787	26587787	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr2:26587787G>A	ENST00000260585.7	+	3	333	c.214G>A	c.(214-216)Gat>Aat	p.D72N		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	72					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.D72N(1)									GGCATACTTTGATCCTGACTT	0.328																																																1	Substitution - Missense(1)	kidney(1)											91	80	84					2																	26587787		1797	4059	5856	SO:0001583	missense	85465				CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"selenoprotein I"	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.214G>A	2.37:g.26587787G>A	ENSP00000260585:p.Asp72Asn		Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	G	32	5.161250	0.94727	.	.	ENSG00000138018	ENST00000442141;ENST00000260585;ENST00000447170	T;T	0.41758	0.99;0.99	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44467	-0.9326	10	0.16896	T	0.51	0.0	18.9858	0.92769	0.0:0.0:1.0:0.0	.	72	Q9C0D9	EPT1_HUMAN	N	40;72;72	ENSP00000415280:D40N;ENSP00000260585:D72N	ENSP00000260585:D72N	D	+	1	0	EPT1	26441291	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.943000	0.92975	2.832000	0.97577	0.655000	0.94253	GAT		0.328	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2		A	26587787	G	A	26587787	3	1	189	1	0	0	0	0	1	0	0	0	5201	1290	45	2	224	2	EPT1	2	26587787	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08		26587787	216611586	9	11738											
SPTBN1	6711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	54891784	54891784	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr2:54891784T>A	ENST00000356805.4	+	33	6896	c.6615T>A	c.(6613-6615)aaT>aaA	p.N2205K	AC093110.3_ENST00000456363.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2205	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.N2205K(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCTTCCTCAATCGGAAACACG	0.562																																																1	Substitution - Missense(1)	kidney(1)											58	60	59					2																	54891784		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6615T>A	2.37:g.54891784T>A	ENSP00000349259:p.Asn2205Lys		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469490	0.26423	.	.	ENSG00000115306	ENST00000356805	T	0.30714	1.52	5.84	-7.04	0.01578	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.149816	0.47852	D	0.000216	T	0.25344	0.0616	L	0.39514	1.22	0.80722	D	1	P;B	0.34462	0.454;0.001	B;B	0.37387	0.248;0.016	T	0.01520	-1.1334	10	0.29301	T	0.29	.	21.4112	0.99953	0.0:0.7119:0.0:0.2881	.	195;2205	B4DIF8;Q01082	.;SPTB2_HUMAN	K	2205	ENSP00000349259:N2205K	ENSP00000349259:N2205K	N	+	3	2	SPTBN1	54745288	0.006000	0.16342	0.881000	0.34555	0.990000	0.78478	-1.016000	0.03633	-1.266000	0.02446	0.482000	0.46254	AAT		0.562	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			A	54891784	T	A	54891784	3	1	189	1	0	0	0	0	1	0	0	0	15124	1432	50	5	6941	5	SPTBN1	2	54891784	Missense_Mutation	SNP	T	TCGA-B0-5106-01A-01D-1421-08	28303997	54891784	188307589	10	11739											
ANKRD39	51239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	97514102	97514102	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr2:97514102T>C	ENST00000393537.4	-	4	595	c.488A>G	c.(487-489)aAg>aGg	p.K163R		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	163								p.K163R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						TAGCCGTGCCTTTCGGTCCCG	0.612																																																1	Substitution - Missense(1)	kidney(1)											89	78	82					2																	97514102		2203	4300	6503	SO:0001583	missense	51239			BC031303	CCDS2028.1	2q11.2	2013-01-10			ENSG00000213337	ENSG00000213337		"Ankyrin repeat domain containing"	28640	protein-coding gene	gene with protein product						11042152	Standard	NM_016466		Approved	MGC41816	uc002sxd.4	Q53RE8	OTTHUMG00000130530	ENST00000393537.4:c.488A>G	2.37:g.97514102T>C	ENSP00000377170:p.Lys163Arg		Q59FU2|Q8N5X5|Q9P0S5	Missense_Mutation	SNP	ENST00000393537.4	37	CCDS2028.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303747	0.60305	.	.	ENSG00000213337	ENST00000393537	T	0.66638	-0.22	5.62	5.62	0.85841	Ankyrin repeat-containing domain (2);	0.233302	0.34314	U	0.004061	T	0.54078	0.1836	L	0.41961	1.31	0.34198	D	0.672862	B	0.25719	0.132	B	0.17098	0.017	T	0.61023	-0.7146	10	0.27785	T	0.31	-14.5316	8.4423	0.32822	0.0:0.0865:0.0:0.9135	.	163	Q53RE8	ANR39_HUMAN	R	163	ENSP00000377170:K163R	ENSP00000377170:K163R	K	-	2	0	ANKRD39	96877829	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	0.759000	0.26461	2.160000	0.67779	0.477000	0.44152	AAG		0.612	ANKRD39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252951.2	NM_016466		C	97514102	T	C	97514102	3	2	189	1	0	0	0	0	1	0	0	0	668	1609	56	3	67	3	ANKRD39	2	97514102	Missense_Mutation	SNP	T	TCGA-B0-5106-01A-01D-1421-08	42622318	97514102	145685271	11	11740											
POTEE	445582	broad.mit.edu	37	2	131995769	131995769	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr2:131995769A>C	ENST00000356920.5	+	8	1294	c.1200A>C	c.(1198-1200)aaA>aaC	p.K400N	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.N387H|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	400					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K400N(1)|p.N387H(1)									CTCTGCAGAAAATGTCTCAAG	0.299																																																2	Substitution - Missense(2)	kidney(2)											41	46	44					2																	131995769		2112	4277	6389	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1200A>C	2.37:g.131995769A>C	ENSP00000439189:p.Lys400Asn		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.140|7.140	0.581724|0.581724	0.13749|0.13749	.|.	.|.	ENSG00000188219|ENSG00000188219	ENST00000356920|ENST00000358087	T|T	0.25085|0.27890	1.82|1.64	0.993|0.993	-1.99|-1.99	0.07457|0.07457	.|.	.|.	.|.	.|.	.|.	T|T	0.19406|0.19406	0.0466|0.0466	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B|.	0.17667|.	0.023|.	B|.	0.11329|.	0.006|.	T|T	0.26121|0.26121	-1.0112|-1.0112	9|7	0.87932|0.38643	D|T	0|0.18	.|.	1.3953|1.3953	0.02259|0.02259	0.4101:0.0:0.2612:0.3287|0.4101:0.0:0.2612:0.3287	.|.	400|.	Q6S8J3|.	POTEE_HUMAN|.	N|H	400|387	ENSP00000439189:K400N|ENSP00000443049:N387H	ENSP00000439189:K400N|ENSP00000443049:N387H	K|N	+|+	3|1	2|0	AC131180.1|AC131180.1	131712239|131712239	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	0.080000|0.080000	0.14802|0.14802	-0.735000|-0.735000	0.04837|0.04837	0.155000|0.155000	0.16302|0.16302	AAA|AAT		0.299	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		C	131995769	A	C	131995769	3	2	189	1	0	0	0	0	1	0	0	0	12266	11	1	5	1230	5	POTEE	2	131995769	Missense_Mutation	SNP	A	TCGA-B0-5106-01A-01D-1421-08	34481667	131995769	111203604	12	11741											
PLCD4	84812	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219498885	219498885	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr2:219498885T>C	ENST00000450993.2	+	12	2003	c.1664T>C	c.(1663-1665)cTg>cCg	p.L555P	PLCD4_ENST00000417849.1_Missense_Mutation_p.L555P|PLCD4_ENST00000432688.1_Missense_Mutation_p.L587P|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	555	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.L555P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCAGCGGCCTGAGGACAGAC	0.552																																																1	Substitution - Missense(1)	kidney(1)											54	51	52					2																	219498885		1989	4169	6158	SO:0001583	missense	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1664T>C	2.37:g.219498885T>C	ENSP00000388631:p.Leu555Pro		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449868	0.63290	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.55234	0.53;0.53;0.53	5.43	5.43	0.79202	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.146541	0.48767	D	0.000163	T	0.74989	0.3789	M	0.85041	2.73	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.78735	-0.2088	10	0.56958	D	0.05	.	15.3041	0.73979	0.0:0.0:0.0:1.0	.	555	Q9BRC7	PLCD4_HUMAN	P	555;555;555;587	ENSP00000388631:L555P;ENSP00000396942:L555P;ENSP00000396185:L587P	ENSP00000251959:L555P	L	+	2	0	PLCD4	219207129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.206000	0.51098	2.279000	0.76181	0.533000	0.62120	CTG		0.552	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			C	219498885	T	C	219498885	3	2	189	1	0	0	0	0	1	0	0	0	12035	1580	55	3	1706	3	PLCD4	2	219498885	Missense_Mutation	SNP	T	TCGA-B0-5106-01A-01D-1421-08	87503116	219498885	23700488	13	11742											
ALPI	248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	233321772	233321772	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr2:233321772C>A	ENST00000295463.3	+	4	541	c.464C>A	c.(463-465)gCc>gAc	p.A155D		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	155					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.A155D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATGAACCGGGCCAAGCAAGCA	0.607																																																1	Substitution - Missense(1)	kidney(1)											41	36	37					2																	233321772		2203	4300	6503	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.464C>A	2.37:g.233321772C>A	ENSP00000295463:p.Ala155Asp		B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878176	0.72294	.	.	ENSG00000163295	ENST00000295463	D	0.98996	-5.31	5.5	5.5	0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.99847	4.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96959	0.9700	10	0.87932	D	0	.	18.7561	0.91833	0.0:1.0:0.0:0.0	.	155	P09923	PPBI_HUMAN	D	155	ENSP00000295463:A155D	ENSP00000295463:A155D	A	+	2	0	ALPI	233030016	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	7.441000	0.80485	2.757000	0.94681	0.561000	0.74099	GCC		0.607	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		A	233321772	C	A	233321772	3	1	189	1	0	0	0	0	1	0	0	0	543	739	26	4	478	4	ALPI	2	233321772	Missense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08	13822887	233321772	9877601	14	11743											
UGT1A8	54658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234526875	234526875	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr2:234526875C>A	ENST00000373450.4	+	1	585	c.522C>A	c.(520-522)tgC>tgA	p.C174*		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	177					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.C174*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GAATAGCTTGCCACTATCTTG	0.478																																																1	Substitution - Nonsense(1)	kidney(1)											178	179	179					2																	234526875		2203	4300	6503	SO:0001587	stop_gained	54576			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.522C>A	2.37:g.234526875C>A	ENSP00000362549:p.Cys174*		A6NJC3|B8K286	Nonsense_Mutation	SNP	ENST00000373450.4	37	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509213	0.44660	.	.	ENSG00000242366	ENST00000373450	.	.	.	3.96	-1.13	0.09775	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	10.0827	0.42399	0.0:0.5035:0.0:0.4965	.	.	.	.	X	174	.	ENSP00000362549:C174X	C	+	3	2	UGT1A8	234191614	0.000000	0.05858	0.010000	0.14722	0.013000	0.08279	-1.548000	0.02184	-0.161000	0.10983	-0.424000	0.05967	TGC		0.478	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			A	234526875	C	A	234526875	4	1	189	1	0	0	0	0	0	1	0	0	16956	747	26	4	524	4	UGT1A8	2	234526875	Nonsense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08	1205103	234526875	8672498	15	11744											
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183867	10183867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454;Illumina Miseq;PacBio			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr3:10183867C>A	ENST00000256474.2	+	1	1176	c.336C>A	c.(334-336)taC>taA	p.Y112*	VHL_ENST00000345392.2_Nonsense_Mutation_p.Y112*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	112	Involved in binding to CCT complex.		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD). {ECO:0000269|PubMed:10533030}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Y112*(2)|p.Y112fs*1(2)|p.?(1)|p.I109_R113del(1)|p.S111fs*45(1)|p.R113fs*46(1)|p.S111_Y112del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCCACAGCTACCGAGGTACGG	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Deletion - Frameshift(4)|Substitution - Nonsense(2)|Deletion - In frame(2)|Unknown(1)	kidney(9)	GRCh37	CM951282	VHL	M							10	11	11					3																	10183867		1837	3816	5653	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.336C>A	3.37:g.10183867C>A	ENSP00000256474:p.Tyr112*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	37	6.280702	0.97440	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	5.17	5.17	0.71159	.	0.122627	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3851	16.2596	0.82533	0.0:1.0:0.0:0.0	.	.	.	.	X	112;112;30	.	ENSP00000256474:Y112X	Y	+	3	2	VHL	10158867	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.307000	0.51888	2.425000	0.82216	0.479000	0.44913	TAC		0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183867	C	A	10183867	4	1	189	1	0	0	0	0	0	1	0	0	17167	518	18	4	338	4	VHL	3	10183867	Nonsense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08		10183867	187838563	16	11745											
NUP210	23225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	13429823	13429823	+	Missense_Mutation	SNP	T	T	A	rs573887922		TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr3:13429823T>A	ENST00000254508.5	-	5	746	c.664A>T	c.(664-666)Atc>Ttc	p.I222F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	222					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.I222F(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCCTCCTGGATGCGAGCCTTG	0.592																																																1	Substitution - Missense(1)	kidney(1)											87	83	85					3																	13429823		2203	4300	6503	SO:0001583	missense	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.664A>T	3.37:g.13429823T>A	ENSP00000254508:p.Ile222Phe		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127758	0.56721	.	.	ENSG00000132182	ENST00000254508	T	0.05786	3.39	5.59	5.59	0.84812	.	0.090386	0.64402	D	0.000001	T	0.11707	0.0285	L	0.45228	1.405	0.58432	D	0.999995	D	0.53462	0.96	P	0.49853	0.624	T	0.02173	-1.1201	10	0.45353	T	0.12	-27.1231	15.4331	0.75121	0.0:0.0:0.0:1.0	.	222	Q8TEM1	PO210_HUMAN	F	222	ENSP00000254508:I222F	ENSP00000254508:I222F	I	-	1	0	NUP210	13404823	1.000000	0.71417	0.873000	0.34254	0.003000	0.03518	3.879000	0.56138	2.129000	0.65627	0.528000	0.53228	ATC		0.592	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13429823	T	A	13429823	3	1	189	1	0	0	0	0	1	0	0	0	10762	1464	51	5	5143	5	NUP210	3	13429823	Missense_Mutation	SNP	T	TCGA-B0-5106-01A-01D-1421-08	3245956	13429823	184592607	17	11746											
XIRP1	165904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	39225988	39225989	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr3:39225988_39225989GA>AT	ENST00000340369.3	-	2	5176_5177	c.4948_4949TC>AT	c.(4948-4950)TCa>ATa	p.S1650I	XIRP1_ENST00000421646.1_Missense_Mutation_p.S333I|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1650					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.S1650L(1)|p.S1650I(1)|p.S1650T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATACTCTCTTGATGTCTCCTGC	0.54																																																3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4948_4949delinsAT	3.37:g.39225988_39225989delinsAT	ENSP00000343140:p.Ser1650Ile		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1																																																																																				0.54	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		AT	39225989	GA	AT	39225988	3	1	189	1	0	0	0	0	1	0	0	0	17434	1294	45	2	586	2	XIRP1	3	39225988	Missense_Mutation	DNP	GA	TCGA-B0-5106-01A-01D-1421-08	25796165	39225988	158796442	18	11747											
HTT	3064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	3138012	3138012	+	Silent	SNP	A	A	G			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr4:3138012A>G	ENST00000355072.5	+	21	2902	c.2757A>G	c.(2755-2757)gaA>gaG	p.E919E		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	919					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.E919E(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGGAGATGAAGACCCCAGGG	0.348																																																1	Substitution - coding silent(1)	kidney(1)											146	139	141					4																	3138012		1876	4117	5993	SO:0001819	synonymous_variant	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2757A>G	4.37:g.3138012A>G			Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.348	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		G	3138012	A	G	3138012	2	3	189	1	0	0	0	0	0	0	0	1	7459	69	3	3		3	HTT	4	3138012	Silent	SNP	A	TCGA-B0-5106-01A-01D-1421-08		3138012	188016264	19	11748											
DHX15	1665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	24541862	24541862	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr4:24541862T>A	ENST00000336812.4	-	10	1811	c.1655A>T	c.(1654-1656)gAt>gTt	p.D552V	DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	552					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.D552V(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAGATCTCCATCATCATTTAA	0.418																																																1	Substitution - Missense(1)	kidney(1)											137	140	139					4																	24541862		2203	4300	6503	SO:0001583	missense	1665			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1655A>T	4.37:g.24541862T>A	ENSP00000336741:p.Asp552Val		Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.538808	0.85917	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.32023	1.47	6.16	6.16	0.99307	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	M	0.82193	2.58	0.80722	D	1	D	0.53885	0.963	P	0.62740	0.906	T	0.63765	-0.6563	10	0.87932	D	0	-20.366	16.8061	0.85666	0.0:0.0:0.0:1.0	.	552	O43143	DHX15_HUMAN	V	552;541	ENSP00000336741:D552V	ENSP00000336741:D552V	D	-	2	0	DHX15	24150960	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	GAT		0.418	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		A	24541862	T	A	24541862	3	1	189	1	0	0	0	0	1	0	0	0	4503	1435	50	5	752	5	DHX15	4	24541862	Missense_Mutation	SNP	T	TCGA-B0-5106-01A-01D-1421-08	21403850	24541862	166612414	20	11749											
NPFFR2	10886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	73013490	73013490	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr4:73013490G>A	ENST00000308744.6	+	4	1628	c.1530G>A	c.(1528-1530)atG>atA	p.M510I	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.M411I|NPFFR2_ENST00000358749.3_Missense_Mutation_p.M408I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	510					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.M510I(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AATTAGTGATGGAAGAATTAA	0.348																																																1	Substitution - Missense(1)	kidney(1)											49	53	52					4																	73013490		2202	4299	6501	SO:0001583	missense	10886			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1530G>A	4.37:g.73013490G>A	ENSP00000307822:p.Met510Ile		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561823	0.45590	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.72282	-0.64;-0.45;-0.47	5.24	-4.29	0.03721	.	0.224870	0.31872	N	0.006926	T	0.45895	0.1365	L	0.31065	0.9	0.41188	D	0.986285	B;B	0.18863	0.002;0.031	B;B	0.12837	0.006;0.008	T	0.01810	-1.1269	10	0.34782	T	0.22	.	2.3248	0.04220	0.2944:0.1948:0.4111:0.0998	.	411;510	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	I	510;411;408	ENSP00000307822:M510I;ENSP00000379321:M411I;ENSP00000351599:M408I	ENSP00000307822:M510I	M	+	3	0	NPFFR2	73232354	1.000000	0.71417	0.000000	0.03702	0.181000	0.23173	1.089000	0.30890	-1.016000	0.03371	0.563000	0.77884	ATG		0.348	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		A	73013490	G	A	73013490	3	1	189	1	0	0	0	0	1	0	0	0	10580	1348	47	2	1550	2	NPFFR2	4	73013490	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	48471628	73013490	118140786	21	11750											
TACR3	6870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	104510994	104510994	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr4:104510994G>C	ENST00000304883.2	-	5	1383	c.1243C>G	c.(1243-1245)Ccc>Gcc	p.P415A	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	415					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.P415A(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCATCGTTGGGGTCAAACACG	0.512																																																1	Substitution - Missense(1)	kidney(1)											266	243	251					4																	104510994		2203	4300	6503	SO:0001583	missense	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1243C>G	4.37:g.104510994G>C	ENSP00000303325:p.Pro415Ala		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.180401	0.00308	.	.	ENSG00000169836	ENST00000304883	T	0.62788	0.0	5.54	0.817	0.18773	.	0.512209	0.20185	N	0.097431	T	0.37073	0.0990	L	0.33339	1.005	0.28564	N	0.910962	B	0.06786	0.001	B	0.09377	0.004	T	0.25433	-1.0132	10	0.02654	T	1	.	2.4919	0.04612	0.2773:0.109:0.4904:0.1233	.	415	P29371	NK3R_HUMAN	A	415	ENSP00000303325:P415A	ENSP00000303325:P415A	P	-	1	0	TACR3	104730443	0.997000	0.39634	0.019000	0.16419	0.000000	0.00434	1.023000	0.30065	0.050000	0.15949	-1.100000	0.02121	CCC		0.512	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		C	104510994	G	C	104510994	3	2	189	1	0	0	0	0	1	0	0	0	15512	1232	43	4	158	4	TACR3	4	104510994	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	31497504	104510994	86643282	22	11751											
PALLD	23022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	169633073	169633073	+	Splice_Site	SNP	C	C	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr4:169633073C>A	ENST00000505667.1	+	10	2136	c.1963C>A	c.(1963-1965)Cta>Ata	p.L655I	PALLD_ENST00000512127.1_Splice_Site_p.L273I|PALLD_ENST00000335742.7_Splice_Site_p.L273M|PALLD_ENST00000261509.6_Splice_Site_p.L655I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	655	Interaction with LASP1. {ECO:0000250}.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.L273M(1)|p.L655I(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAAACCAAAACTGTGAGTATT	0.408									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)											2	Substitution - Missense(2)	kidney(2)											54	59	57					4																	169633073		2203	4299	6502	SO:0001630	splice_region_variant	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1964+1C>A	4.37:g.169633073C>A			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.558568|3.558568	0.65538|0.65538	.|.	.|.	ENSG00000129116|ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000512127|ENST00000335742	T;T;T|T	0.67171|0.70516	-0.25;0.0;-0.19|-0.49	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|0.000000	0.26492|0.26492	U|U	0.024071|0.024071	D|D	0.83138|0.83138	0.5189|0.5189	M|M	0.77313|0.77313	2.365|2.365	0.49915|0.49915	D|D	0.99983|0.99983	D;D;D|.	0.76494|.	0.999;0.993;0.999|.	D;D;D|.	0.76071|.	0.987;0.967;0.987|.	T|T	0.81731|0.81731	-0.0799|-0.0799	10|8	0.35671|0.40728	T|T	0.21|0.16	.|.	19.8321|19.8321	0.96640|0.96640	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	655;273;655|.	B7ZMM5;B3KTG2;B2RTX2|.	.;.;.|.	I|M	655;655;273|273	ENSP00000261509:L655I;ENSP00000425556:L655I;ENSP00000426947:L273I|ENSP00000336735:L273M	ENSP00000261509:L655I|ENSP00000336735:L273M	L|L	+|+	1|1	2|2	PALLD|PALLD	169869648|169869648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.833000|0.833000	0.47200|0.47200	6.512000|6.512000	0.73737|0.73737	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	CTA|CTG		0.408	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	Missense_Mutation	A	169633073	C	A	169633073	5	1	189	1	0	0	0	0	0	0	1	0	11409	579	20	4	1997	4	PALLD	4	169633073	Splice_Site	SNP	C	TCGA-B0-5106-01A-01D-1421-08	65122079	169633073	21521203	23	11752											
IRX1	79192	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	3599432	3599432	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr5:3599432C>A	ENST00000302006.3	+	2	422	c.370C>A	c.(370-372)Caa>Aaa	p.Q124K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	124					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Q124K(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGGCCAGTTCCAATACGGGGA	0.652																																																1	Substitution - Missense(1)	kidney(1)											44	48	47					5																	3599432		2203	4300	6503	SO:0001583	missense	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.370C>A	5.37:g.3599432C>A	ENSP00000305244:p.Gln124Lys		Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741198	0.89573	.	.	ENSG00000170549	ENST00000302006	T	0.61627	0.09	4.83	4.83	0.62350	Homeodomain-like (1);	0.114355	0.64402	D	0.000011	T	0.70386	0.3218	M	0.71036	2.16	0.80722	D	1	D	0.60160	0.987	P	0.57101	0.813	T	0.69760	-0.5058	10	0.32370	T	0.25	.	17.895	0.88885	0.0:1.0:0.0:0.0	.	124	P78414	IRX1_HUMAN	K	124	ENSP00000305244:Q124K	ENSP00000305244:Q124K	Q	+	1	0	IRX1	3652432	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.460000	0.80816	2.348000	0.79779	0.655000	0.94253	CAA		0.652	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		A	3599432	C	A	3599432	3	1	189	1	0	0	0	0	1	0	0	0	7845	595	21	4	376	4	IRX1	5	3599432	Missense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08		3599432	177315828	24	11753											
PHF15	23338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	133887864	133887864	+	Silent	SNP	T	T	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr5:133887864T>C	ENST00000402835.1	+	4	531	c.276T>C	c.(274-276)ccT>ccC	p.P92P	PHF15_ENST00000361895.2_Silent_p.P92P|PHF15_ENST00000282605.4_Silent_p.P92P|PHF15_ENST00000395003.1_Silent_p.P92P														p.P92P(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAGGTGCCTGCCGGGGCAG	0.637																																																1	Substitution - coding silent(1)	kidney(1)											47	44	45					5																	133887864		2203	4300	6503	SO:0001819	synonymous_variant	23338																														ENST00000402835.1:c.276T>C	5.37:g.133887864T>C				Silent	SNP	ENST00000402835.1	37																																																																																					0.637	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			C	133887864	T	C	133887864	2	2	189	1	0	0	0	0	0	0	0	1	11828	1567	55	3		3	PHF15	5	133887864	Silent	SNP	T	TCGA-B0-5106-01A-01D-1421-08	130288432	133887864	47027396	25	11754											
PCDHA5	56143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140203675	140203675	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr5:140203675G>T	ENST00000529859.1	+	1	2315	c.2315G>T	c.(2314-2316)aGt>aTt	p.S772I	PCDHA5_ENST00000529619.1_Missense_Mutation_p.S772I|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S772I|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	772					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S772I(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCCTTCAGTCCAAGCCTT	0.502																																																2	Substitution - Missense(2)	kidney(2)											85	79	81					5																	140203675		2203	4300	6503	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2315G>T	5.37:g.140203675G>T	ENSP00000436557:p.Ser772Ile		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562664	0.45694	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.20463	2.07;2.07;2.07	4.22	4.22	0.49857	.	.	.	.	.	T	0.52565	0.1742	M	0.89601	3.045	0.24939	N	0.991862	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.973;0.991;0.994	T	0.48927	-0.8991	9	0.87932	D	0	.	12.231	0.54488	0.0:0.3138:0.6862:0.0	.	772;772;772	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	I	772	ENSP00000433416:S772I;ENSP00000436557:S772I;ENSP00000367366:S772I	ENSP00000367366:S772I	S	+	2	0	PCDHA5	140183859	1.000000	0.71417	0.998000	0.56505	0.427000	0.31564	3.087000	0.50167	2.066000	0.61787	0.491000	0.48974	AGT		0.502	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		T	140203675	G	T	140203675	3	4	189	1	0	0	0	0	1	0	0	0	11529	1029	36	4	2317	4	PCDHA5	5	140203675	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	6315811	140203675	40711585	26	11755											
PCDHGA10	56106	broad.mit.edu	37	5	140794506	140794506	+	Silent	SNP	C	C	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr5:140794506C>T	ENST00000398610.2	+	1	1764	c.1764C>T	c.(1762-1764)ccC>ccT	p.P588P	PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	588	Cadherin 6. {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)	p.P588P(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCAGAGCCCGGCTACCTGG	0.672																																																1	Substitution - coding silent(1)	kidney(1)											80	95	90					5																	140794506		2200	4299	6499	SO:0001819	synonymous_variant	56106				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1764C>T	5.37:g.140794506C>T			Q9Y5E0	Silent	SNP	ENST00000398610.2	37	CCDS47292.1																																																																																				0.672	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		T	140794506	C	T	140794506	2	4	189	1	0	0	0	0	0	0	0	1	11553	639	23	1		1	PCDHGA10	5	140794506	Silent	SNP	C	TCGA-B0-5106-01A-01D-1421-08	590831	140794506	40120754	27	11756											
MRPL22	29093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154330404	154330404	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr5:154330404A>T	ENST00000523037.1	+	3	142	c.101A>T	c.(100-102)cAc>cTc	p.H34L	MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000522038.1_Missense_Mutation_p.H40L|MRPL22_ENST00000439747.3_Missense_Mutation_p.H60L	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	34					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.H34L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCATATATCCACACAAGTGCT	0.388																																																1	Substitution - Missense(1)	kidney(1)											124	122	123					5																	154330404		2203	4300	6503	SO:0001583	missense	29093			AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"Mitochondrial ribosomal proteins / large subunits"	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.101A>T	5.37:g.154330404A>T	ENSP00000431040:p.His34Leu		A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	ENST00000523037.1	37	CCDS4331.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.122464	0.37436	.	.	ENSG00000082515	ENST00000523037;ENST00000439747;ENST00000522038	T;T;T	0.55234	0.62;0.53;0.73	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.79693	2.465	0.80722	D	1	B	0.23806	0.091	B	0.18263	0.021	T	0.58747	-0.7582	10	0.59425	D	0.04	-3.8561	12.3452	0.55116	1.0:0.0:0.0:0.0	.	34	Q9NWU5	RM22_HUMAN	L	34;60;40	ENSP00000431040:H34L;ENSP00000411177:H60L;ENSP00000429039:H40L	ENSP00000411177:H60L	H	+	2	0	MRPL22	154310597	1.000000	0.71417	0.996000	0.52242	0.431000	0.31685	6.701000	0.74624	1.947000	0.56498	0.482000	0.46254	CAC		0.388	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252508.2			T	154330404	A	T	154330404	3	4	189	1	0	0	0	0	1	0	0	0	9790	159	6	5	111	5	MRPL22	5	154330404	Missense_Mutation	SNP	A	TCGA-B0-5106-01A-01D-1421-08	13535898	154330404	26584856	28	11757											
FLT4	2324	hgsc.bcm.edu;ucsc.edu	37	5	180039595	180039600	+	In_Frame_Del	DEL	TCAGCA	TCAGCA	-			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	TCAGCA	TCAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr5:180039595_180039600delTCAGCA	ENST00000261937.6	-	26	3521_3526	c.3443_3448delTGCTGA	c.(3442-3450)atgctgaac>aac	p.ML1148del	FLT4_ENST00000502649.1_In_Frame_Del_p.ML1148del|FLT4_ENST00000393347.3_In_Frame_Del_p.ML1148del	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACCAGCAGTTCAGCATGATGCGGCG	0.665																																					Colon(97;1075 1466 27033 27547 35871)											0																																										SO:0001651	inframe_deletion	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3443_3448delTGCTGA	5.37:g.180039595_180039600delTCAGCA	ENSP00000261937:p.Met1148_Leu1149del		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	In_Frame_Del	DEL	ENST00000261937.6	37	CCDS4457.1																																																																																				0.665	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			-	180039600	TCAGCA	-	180039595	7	5	189	1	0	1	0	1	0	0	0	0	5946	1783	62	0	671	0	FLT4	5	180039595	In_Frame_Del	DEL	TCAGCA	TCGA-B0-5106-01A-01D-1421-08	25709191	180039595	875665	29	11758											
PHACTR1	221692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	13206174	13206174	+	Silent	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr6:13206174G>A	ENST00000379350.1	+	7	921	c.792G>A	c.(790-792)caG>caA	p.Q264Q	PHACTR1_ENST00000332995.7_Silent_p.Q264Q|PHACTR1_ENST00000457702.2_Silent_p.Q119Q|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	264					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.Q264Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ACACAGCCCAGAAGAGTGGCC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											52	62	59					6																	13206174		2087	4193	6280	SO:0001819	synonymous_variant	221692			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.792G>A	6.37:g.13206174G>A			A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37		.	.	.	.	.	.	.	.	.	.	G	7.556	0.663710	0.14710	.	.	ENSG00000112137	ENST00000415087	.	.	.	5.12	4.25	0.50352	.	.	.	.	.	T	0.57681	0.2070	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59161	-0.7506	4	.	.	.	-18.8855	13.0992	0.59210	0.0774:0.0:0.9226:0.0	.	.	.	.	K	99	.	.	R	+	2	0	PHACTR1	13314153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.828000	0.55753	1.380000	0.46344	0.561000	0.74099	AGA		0.627	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		A	13206174	G	A	13206174	2	1	189	1	0	0	0	0	0	0	0	1	11811	933	33	2		2	PHACTR1	6	13206174	Silent	SNP	G	TCGA-B0-5106-01A-01D-1421-08		13206174	157908893	30	11759											
SLC17A1	6568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	25811911	25811911	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr6:25811911T>A	ENST00000244527.4	-	9	1100	c.985A>T	c.(985-987)Aat>Tat	p.N329Y	SLC17A1_ENST00000476801.1_Missense_Mutation_p.N329Y|SLC17A1_ENST00000468082.1_Missense_Mutation_p.N275Y|SLC17A1_ENST00000427328.1_Missense_Mutation_p.N275Y	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	329					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.N329Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CTGAGAATATTCCTGGTCAGG	0.453																																																1	Substitution - Missense(1)	kidney(1)											99	89	93					6																	25811911		2203	4300	6503	SO:0001583	missense	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.985A>T	6.37:g.25811911T>A	ENSP00000244527:p.Asn329Tyr		A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647131	0.29246	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	3.38	3.38	0.38709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.429800	0.19703	N	0.107988	T	0.55705	0.1937	M	0.83483	2.645	0.25126	N	0.990602	D;D	0.76494	0.999;0.999	D;D	0.72075	0.959;0.976	T	0.54316	-0.8312	10	0.06365	T	0.9	.	8.4902	0.33095	0.0:0.0:0.0:1.0	.	275;329	Q14916-2;Q14916	.;NPT1_HUMAN	Y	329;275;329;275	ENSP00000244527:N329Y;ENSP00000410549:N275Y;ENSP00000420614:N329Y;ENSP00000420546:N275Y	ENSP00000244527:N329Y	N	-	1	0	SLC17A1	25919890	0.999000	0.42202	0.568000	0.28447	0.112000	0.19704	1.949000	0.40313	1.779000	0.52309	0.528000	0.53228	AAT		0.453	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			A	25811911	T	A	25811911	3	1	189	1	0	0	0	0	1	0	0	0	14422	1783	62	5	434	5	SLC17A1	6	25811911	Missense_Mutation	SNP	T	TCGA-B0-5106-01A-01D-1421-08	12605737	25811911	145303156	31	11760											
SLC44A4	80736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	31833744	31833744	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr6:31833744G>T	ENST00000229729.6	-	14	1413	c.1393C>A	c.(1393-1395)Ctc>Atc	p.L465I	SLC44A4_ENST00000375562.4_Missense_Mutation_p.L423I|SLC44A4_ENST00000544672.1_Missense_Mutation_p.L389I	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	465					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L465I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GCTCCAGCGAGGACGCATTGG	0.562																																																1	Substitution - Missense(1)	kidney(1)											67	66	66					6																	31833744		2203	4300	6503	SO:0001583	missense	80736			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1393C>A	6.37:g.31833744G>T	ENSP00000229729:p.Leu465Ile		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673715	0.47781	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.19105	2.17;2.17;2.17	5.21	1.39	0.22231	.	0.077283	0.53938	D	0.000055	T	0.18299	0.0439	L	0.45470	1.425	0.53005	D	0.999964	D	0.65815	0.995	D	0.67382	0.951	T	0.03394	-1.1041	10	0.51188	T	0.08	-19.1868	5.5995	0.17345	0.2286:0.0:0.6326:0.1389	.	465	Q53GD3	CTL4_HUMAN	I	465;423;389	ENSP00000229729:L465I;ENSP00000364712:L423I;ENSP00000444109:L389I	ENSP00000229729:L465I	L	-	1	0	SLC44A4	31941723	1.000000	0.71417	0.993000	0.49108	0.759000	0.43091	2.200000	0.42724	0.066000	0.16515	0.655000	0.94253	CTC		0.562	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			T	31833744	G	T	31833744	3	4	189	1	0	0	0	0	1	0	0	0	14644	1000	35	4	771	4	SLC44A4	6	31833744	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	6021833	31833744	139281323	32	11761											
CUL9	23113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43170869	43170869	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr6:43170869G>T	ENST00000252050.4	+	18	3860	c.3776G>T	c.(3775-3777)aGc>aTc	p.S1259I	CUL9_ENST00000372647.2_Missense_Mutation_p.S1259I|CUL9_ENST00000354495.3_Missense_Mutation_p.S1149I	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1259	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.S1259I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCTCTGCCAGCCGGGTGATC	0.552																																																1	Substitution - Missense(1)	kidney(1)											92	85	88					6																	43170869		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.3776G>T	6.37:g.43170869G>T	ENSP00000252050:p.Ser1259Ile		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304743	0.81247	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72051	-0.62;-0.62;-0.62	5.2	4.31	0.51392	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.191344	0.64402	D	0.000014	T	0.77751	0.4177	M	0.68952	2.095	0.44061	D	0.996802	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.983;0.996;0.996	T	0.81653	-0.0835	10	0.87932	D	0	-23.2318	14.2736	0.66166	0.0:0.1488:0.8512:0.0	.	1149;1259;1259	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	I	1259;1149;1259	ENSP00000252050:S1259I;ENSP00000346490:S1149I;ENSP00000361730:S1259I	ENSP00000252050:S1259I	S	+	2	0	CUL9	43278847	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.218000	0.72224	1.278000	0.44430	0.561000	0.74099	AGC		0.552	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		T	43170869	G	T	43170869	3	4	189	1	0	0	0	0	1	0	0	0	4063	971	34	4	3842	4	CUL9	6	43170869	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	11337125	43170869	127944198	33	11762											
TSPYL1	7259	hgsc.bcm.edu;ucsc.edu	37	6	116599803	116599804	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr6:116599803_116599804delTT	ENST00000368608.3	-	1	1262_1263	c.1190_1191delAA	c.(1189-1191)aaafs	p.K397fs	DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	397					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		ACAGATCCTCTTTAATAATCTC	0.515																																																0																																										SO:0001589	frameshift_variant	7259			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.1190_1191delAA	6.37:g.116599803_116599804delTT	ENSP00000357597:p.Lys397fs		O75885|Q5TFE6	Frame_Shift_Del	DEL	ENST00000368608.3	37	CCDS34518.1																																																																																				0.515	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			-	116599804	TT	-	116599803	7	5	189	1	0	1	0	1	0	0	0	0	16664	1606	56	0	126	0	TSPYL1	6	116599803	Frame_Shift_Del	DEL	TT	TCGA-B0-5106-01A-01D-1421-08	73428934	116599803	54515264	34	11763											
STX7	8417	broad.mit.edu;hgsc.bcm.edu	37	6	132785212	132785213	+	Splice_Site	DNP	TA	TA	AT			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr6:132785212_132785213TA>AT	ENST00000367941.2	-	9	725_726	c.612_613TA>AT	c.(610-615)gaTAgc>gaATgc	p.204_205DS>EC	STX7_ENST00000367937.4_Splice_Site_p.204_205DS>EC	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	204	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.S205C(1)|p.D204_S205>EC(1)|p.D204E(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GCTTCTATGCTATCTGTAAAAT	0.366																																																3	Substitution - Missense(2)|Complex - compound substitution(1)	kidney(3)																																								SO:0001630	splice_region_variant	8417			U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.612_613delinsAT	6.37:g.132785212_132785213delinsAT			E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	ENST00000367941.2	37	CCDS5153.1																																																																																				0.366	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2		Missense_Mutation	AT	132785213	TA	AT	132785212	5	1	189	1	0	0	0	0	0	0	1	0	15355	1522	53	5	180	5	STX7	6	132785212	Splice_Site	DNP	TA	TCGA-B0-5106-01A-01D-1421-08	16185409	132785212	38329855	35	11764											
MAP7	9053	broad.mit.edu;hgsc.bcm.edu	37	6	136683700	136683700	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr6:136683700C>A	ENST00000354570.3	-	11	1824	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	MAP7_ENST00000454590.1_Missense_Mutation_p.G494C|MAP7_ENST00000544465.1_Missense_Mutation_p.G457C|RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000432797.2_Missense_Mutation_p.G326C|MAP7_ENST00000438100.2_Missense_Mutation_p.G457C	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	472					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.G472C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCGGTGGTGCCTGCAGAAGTC	0.622																																																1	Substitution - Missense(1)	kidney(1)											75	74	75					6																	136683700		2203	4300	6503	SO:0001583	missense	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1414G>T	6.37:g.136683700C>A	ENSP00000346581:p.Gly472Cys		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691104	0.48097	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000024	T	0.73621	0.3610	M	0.90870	3.155	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;1.0;1.0;1.0;1.0;1.0	T	0.79482	-0.1785	10	0.87932	D	0	-17.2869	19.7743	0.96385	0.0:1.0:0.0:0.0	.	457;494;457;494;378;435;472	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	C	472;494;457;457;326;378	ENSP00000346581:G472C;ENSP00000414712:G494C;ENSP00000445737:G457C;ENSP00000400790:G457C;ENSP00000414879:G326C	ENSP00000344217:G378C	G	-	1	0	MAP7	136725393	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	7.414000	0.80117	2.663000	0.90544	0.557000	0.71058	GGC		0.622	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		A	136683700	C	A	136683700	3	1	189	1	0	0	0	0	1	0	0	0	9268	681	24	4	867	4	MAP7	6	136683700	Missense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08	3898488	136683700	34431367	36	11765											
UTRN	7402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	144812074	144812074	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr6:144812074C>G	ENST00000367545.3	+	31	4273	c.4273C>G	c.(4273-4275)Cga>Gga	p.R1425G		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1425	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R1425G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGGAAACTCCGAGAGGTGTC	0.443																																																1	Substitution - Missense(1)	kidney(1)											46	47	47					6																	144812074		2203	4299	6502	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4273C>G	6.37:g.144812074C>G	ENSP00000356515:p.Arg1425Gly		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872069	0.72180	.	.	ENSG00000152818	ENST00000367545	T	0.21191	2.02	5.67	5.67	0.87782	.	0.000000	0.44902	D	0.000415	T	0.34454	0.0898	L	0.57536	1.79	0.39245	D	0.963933	D	0.89917	1.0	D	0.85130	0.997	T	0.00899	-1.1522	10	0.21014	T	0.42	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	1425	P46939	UTRO_HUMAN	G	1425	ENSP00000356515:R1425G	ENSP00000356515:R1425G	R	+	1	2	UTRN	144853767	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.627000	0.61276	2.836000	0.97738	0.655000	0.94253	CGA		0.443	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			G	144812074	C	G	144812074	3	3	189	1	0	0	0	0	1	0	0	0	17108	644	23	4	4395	4	UTRN	6	144812074	Missense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08	8128374	144812074	26302993	37	11766											
AKAP12	9590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	151670459	151670459	+	Silent	SNP	C	C	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr6:151670459C>A	ENST00000253332.1	+	3	1122	c.933C>A	c.(931-933)acC>acA	p.T311T	AKAP12_ENST00000354675.6_Silent_p.T213T|AKAP12_ENST00000402676.2_Silent_p.T311T|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000359755.5_Silent_p.T206T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	311	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.T311T(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCAAAAAGACCAGTTTCAGGA	0.483																																					Melanoma(141;1616 1805 10049 24534 51979)											1	Substitution - coding silent(1)	kidney(1)											44	52	49					6																	151670459		2203	4300	6503	SO:0001819	synonymous_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.933C>A	6.37:g.151670459C>A			O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.483	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			A	151670459	C	A	151670459	2	1	189	1	0	0	0	0	0	0	0	1	448	581	21	4		4	AKAP12	6	151670459	Silent	SNP	C	TCGA-B0-5106-01A-01D-1421-08	6858385	151670459	19444608	38	11767											
MRPL18	29074	broad.mit.edu	37	6	160218317	160218317	+	Splice_Site	SNP	A	A	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr6:160218317A>C	ENST00000367034.4	+	3	361		c.e3-1		PNLDC1_ENST00000610273.1_5'Flank|PNLDC1_ENST00000392167.3_5'Flank|MRPL18_ENST00000480842.1_Splice_Site	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18						rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)	p.?(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		CACCCCATTTAGGTTGCGAGT	0.388																																																1	Unknown(1)	kidney(1)											90	75	80					6																	160218317		2203	4300	6503	SO:0001630	splice_region_variant	29074			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"Mitochondrial ribosomal proteins / large subunits"	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.240-1A>C	6.37:g.160218317A>C			Q5TAP9|Q9NZW8	Splice_Site	SNP	ENST00000367034.4	37	CCDS5270.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.624552	0.66901	.	.	ENSG00000112110	ENST00000367034	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.026	0.64586	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MRPL18	160138307	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	6.511000	0.73733	1.883000	0.54544	0.533000	0.62120	.		0.388	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1		Intron	C	160218317	A	C	160218317	5	2	189	1	0	0	0	0	0	0	1	0	9785	434	15	5	248	5	MRPL18	6	160218317	Splice_Site	SNP	A	TCGA-B0-5106-01A-01D-1421-08	8547858	160218317	10896750	39	11768											
EVX1	2128	broad.mit.edu;ucsc.edu	37	7	27282680	27282680	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr7:27282680C>G	ENST00000496902.4	+	1	517	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_5'Flank|EVX1-AS_ENST00000519050.1_RNA|RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1_ENST00000222761.3_Missense_Mutation_p.L11V|EVX1-AS_ENST00000519218.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	11					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L11V(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GGTTGTGTTTCTGGATGGGGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											42	47	45					7																	27282680		2203	4300	6503	SO:0001583	missense	2128				CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.31C>G	7.37:g.27282680C>G	ENSP00000419266:p.Leu11Val		A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522527	0.27211	.	.	ENSG00000106038	ENST00000496902;ENST00000222761	D	0.91631	-2.88	5.09	-0.782	0.10961	.	0.270734	0.36200	N	0.002722	D	0.85919	0.5809	L	0.60455	1.87	0.80722	D	1	P;B	0.42296	0.775;0.014	B;B	0.36464	0.225;0.019	T	0.77133	-0.2700	10	0.62326	D	0.03	-12.5529	4.9264	0.13896	0.1334:0.4523:0.0:0.4143	.	11;11	F8W9J5;P49640	.;EVX1_HUMAN	V	11	ENSP00000419266:L11V	ENSP00000222761:L11V	L	+	1	2	EVX1	27249205	0.986000	0.35501	0.983000	0.44433	0.987000	0.75469	0.231000	0.17872	-0.539000	0.06273	0.462000	0.41574	CTG		0.627	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			G	27282680	C	G	27282680	3	3	189	1	0	0	0	0	1	0	0	0	5296	912	32	4	33	4	EVX1	7	27282680	Missense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08		27282680	131855983	40	11769											
PARP12	64761	broad.mit.edu	37	7	139741631	139741631	+	Missense_Mutation	SNP	C	C	A	rs199656500		TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr7:139741631C>A	ENST00000263549.3	-	6	1868	c.995G>T	c.(994-996)tGc>tTc	p.C332F	PARP12_ENST00000470515.1_5'Flank	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	332	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.C332F(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TGACTCAGAGCACAGGATCCT	0.527																																																1	Substitution - Missense(1)	kidney(1)											109	99	103					7																	139741631		2203	4300	6503	SO:0001583	missense	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.995G>T	7.37:g.139741631C>A	ENSP00000263549:p.Cys332Phe		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	C	7.900	0.734279	0.15574	.	.	ENSG00000059378	ENST00000263549	T	0.06768	3.26	4.81	0.558	0.17266	WWE domain (1);	0.454286	0.24742	N	0.035973	T	0.05273	0.0140	L	0.47716	1.5	0.09310	N	1	B	0.25007	0.116	B	0.16289	0.015	T	0.34551	-0.9824	10	0.18276	T	0.48	.	1.9625	0.03389	0.3516:0.3701:0.1718:0.1066	.	332	Q9H0J9	PAR12_HUMAN	F	332	ENSP00000263549:C332F	ENSP00000263549:C332F	C	-	2	0	PARP12	139388100	0.008000	0.16893	0.003000	0.11579	0.004000	0.04260	0.964000	0.29306	0.528000	0.28580	-0.169000	0.13324	TGC		0.527	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		A	139741631	C	A	139741631	3	1	189	1	0	0	0	0	1	0	0	0	11459	710	25	4	1138	4	PARP12	7	139741631	Missense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08	112458951	139741631	19397032	41	11770											
GIMAP8	155038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150164190	150164190	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr7:150164190G>A	ENST00000307271.3	+	2	978	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	135	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.R135Q(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCTTCACTCGGAAGGATGAT	0.468																																																1	Substitution - Missense(1)	kidney(1)											81	77	78					7																	150164190		2203	4300	6503	SO:0001583	missense	155038			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.404G>A	7.37:g.150164190G>A	ENSP00000305107:p.Arg135Gln			Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.766140	0.31228	.	.	ENSG00000171115	ENST00000307271	T	0.61392	0.11	4.47	2.56	0.30785	AIG1 (1);	0.525245	0.15496	N	0.259278	T	0.52419	0.1733	M	0.81179	2.53	0.09310	N	1	P	0.37330	0.59	B	0.30572	0.117	T	0.49143	-0.8970	10	0.51188	T	0.08	.	6.7004	0.23223	0.2189:0.0:0.7811:0.0	.	135	Q8ND71	GIMA8_HUMAN	Q	135	ENSP00000305107:R135Q	ENSP00000305107:R135Q	R	+	2	0	GIMAP8	149795123	0.000000	0.05858	0.018000	0.16275	0.011000	0.07611	0.256000	0.18351	0.461000	0.27071	-1.000000	0.02509	CGG		0.468	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		A	150164190	G	A	150164190	3	1	189	1	0	0	0	0	1	0	0	0	6387	1116	39	1	406	1	GIMAP8	7	150164190	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	10422559	150164190	8974473	42	11771											
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110530496	110530496	+	Silent	SNP	T	T	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr8:110530496T>A	ENST00000378402.5	+	73	11894	c.11790T>A	c.(11788-11790)gtT>gtA	p.V3930V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3930					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V3934V(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTATACCTGTTGAAATTCACA	0.373										HNSCC(38;0.096)																																						1	Substitution - coding silent(1)	kidney(1)											124	119	120					8																	110530496		1862	4090	5952	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11790T>A	8.37:g.110530496T>A			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110530496	T	A	110530496	2	1	189	1	0	0	0	0	0	0	0	1	11974	1799	63	5		5	PKHD1L1	8	110530496	Silent	SNP	T	TCGA-B0-5106-01A-01D-1421-08		110530496	35833526	43	11772											
PLEC	5339	broad.mit.edu	37	8	145004392	145004392	+	Silent	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr8:145004392G>A	ENST00000322810.4	-	21	3112	c.2943C>T	c.(2941-2943)agC>agT	p.S981S	PLEC_ENST00000357649.2_Silent_p.S848S|PLEC_ENST00000354958.2_Silent_p.S822S|PLEC_ENST00000436759.2_Silent_p.S871S|PLEC_ENST00000356346.3_Silent_p.S830S|PLEC_ENST00000398774.2_Silent_p.S812S|PLEC_ENST00000345136.3_Silent_p.S844S|PLEC_ENST00000354589.3_Silent_p.S844S|PLEC_ENST00000527096.1_Silent_p.S867S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	981	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.S871S(1)|p.S981S(1)|p.S844S(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTGCCGGAGCTGCTGAGCA	0.711																																																3	Substitution - coding silent(3)	kidney(3)											11	15	14					8																	145004392		2138	4226	6364	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2943C>T	8.37:g.145004392G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	145004392	G	A	145004392	2	1	189	1	0	0	0	0	0	0	0	1	12054	962	34	2		2	PLEC	8	145004392	Silent	SNP	G	TCGA-B0-5106-01A-01D-1421-08	34473896	145004392	1359630	44	11773											
GRHPR	9380	hgsc.bcm.edu	37	9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	GG	rs369721488|rs150805048		TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr9:37424907_37424908insGG	ENST00000318158.6	+	2	234_235	c.149_150insGG	c.(148-153)gcggggfs	p.AG50fs	GRHPR_ENST00000607784.1_Frame_Shift_Ins_p.AG50fs|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658																																																0										127,75,4062		0,0,127,0,75,1930						1	0			47	270,115,7869		0,0,270,0,115,3742	no	codingComplex	GRHPR	NM_012203.1		0,0,397,0,190,5672	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6644,4.7373,4.6892				397,190,11931				SO:0001589	frameshift_variant	9380			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.152_153dupGG	9.37:g.37424910_37424911dupGG	ENSP00000313432:p.Ala50fs		Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Ins	INS	ENST00000318158.6	37	CCDS6609.1																																																																																				0.658	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		GG	37424908	-	GG	37424907	7	5	189	1	0	1	1	0	0	0	0	0	6768	768	27	0	155	0	GRHPR	9	37424907	Frame_Shift_Ins	INS	-	TCGA-B0-5106-01A-01D-1421-08		37424907	103788524	45	11774											
ZCCHC6	79670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	88960584	88960584	+	Splice_Site	SNP	C	C	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr9:88960584C>A	ENST00000375963.3	-	4	991	c.819G>T	c.(817-819)aaG>aaT	p.K273N	ZCCHC6_ENST00000375960.2_Splice_Site_p.K273N|ZCCHC6_ENST00000277141.6_De_novo_Start_InFrame|ZCCHC6_ENST00000375948.1_5'Flank|ZCCHC6_ENST00000375961.2_Splice_Site_p.K273N|ZCCHC6_ENST00000375947.1_Splice_Site_p.K106N	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	273					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.K273N(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTCAATTTACCTTAATGTTTT	0.353																																																1	Substitution - Missense(1)	kidney(1)											224	191	202					9																	88960584		2203	4300	6503	SO:0001630	splice_region_variant	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.819+1G>T	9.37:g.88960584C>A			Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224948	0.79576	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963;ENST00000427388;ENST00000375947	D;D;D;T	0.83506	-1.73;-1.73;-1.73;1.19	5.49	5.49	0.81192	.	0.067226	0.64402	D	0.000002	D	0.90038	0.6889	M	0.61703	1.905	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;P	0.78314	0.991;0.987;0.961;0.852	D	0.88894	0.3348	9	.	.	.	-17.1358	19.3708	0.94484	0.0:1.0:0.0:0.0	.	273;273;273;273	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	N	273;273;273;106;106	ENSP00000365127:K273N;ENSP00000365128:K273N;ENSP00000365130:K273N;ENSP00000365114:K106N	.	K	-	3	2	ZCCHC6	88150404	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.352000	0.66028	2.571000	0.86741	0.467000	0.42956	AAG		0.353	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	Missense_Mutation	A	88960584	C	A	88960584	5	1	189	1	0	0	0	0	0	0	1	0	17597	695	24	4	3764	4	ZCCHC6	9	88960584	Splice_Site	SNP	C	TCGA-B0-5106-01A-01D-1421-08	51535677	88960584	52252847	46	11775											
KIAA1529	100499483	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100132270	100132270	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr9:100132270A>C	ENST00000357054.1	+	44	5158	c.4223A>C	c.(4222-4224)aAt>aCt	p.N1408T	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.N1463T|CCDC180_ENST00000375202.2_Missense_Mutation_p.N1463T|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1408						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.N1408T(1)|p.N1463T(1)									GTGATGGAGAATTTCAAGGAA	0.517																																																2	Substitution - Missense(2)	kidney(2)											68	69	69					9																	100132270		2203	4300	6503	SO:0001583	missense	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4223A>C	9.37:g.100132270A>C	ENSP00000349562:p.Asn1408Thr		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	A	17.41	3.383227	0.61845	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.45668	0.89;0.89;0.89	5.58	2.91	0.33838	.	0.431704	0.30850	N	0.008752	T	0.45175	0.1329	M	0.65975	2.015	0.80722	D	1	P;D	0.57899	0.802;0.981	B;P	0.53401	0.422;0.725	T	0.38351	-0.9665	10	0.32370	T	0.25	-8.2765	3.732	0.08496	0.6485:0.2193:0.1321:0.0	.	1602;1408	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	T	1408;1463;1463	ENSP00000349562:N1408T;ENSP00000364348:N1463T;ENSP00000434727:N1463T	ENSP00000349562:N1408T	N	+	2	0	C9orf174	99172091	0.985000	0.35326	0.990000	0.47175	0.824000	0.46624	1.148000	0.31614	1.023000	0.39654	0.533000	0.62120	AAT		0.517	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		C	100132270	A	C	100132270	3	2	189	1	0	0	0	0	1	0	0	0	8242	101	4	5	4353	5	KIAA1529	9	100132270	Missense_Mutation	SNP	A	TCGA-B0-5106-01A-01D-1421-08	11171686	100132270	41081161	47	11776											
NIPSNAP3B	55335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	107528730	107528730	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr9:107528730T>C	ENST00000374762.3	+	2	256	c.185T>C	c.(184-186)cTt>cCt	p.L62P	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	62								p.L62P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AACATTCATCTTCGGACCTCT	0.358																																																1	Substitution - Missense(1)	kidney(1)											148	153	151					9																	107528730		2203	4300	6503	SO:0001583	missense	55335			BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.185T>C	9.37:g.107528730T>C	ENSP00000363894:p.Leu62Pro		Q5VX30|Q9NUM2	Missense_Mutation	SNP	ENST00000374762.3	37	CCDS6761.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.325333	0.60743	.	.	ENSG00000165028	ENST00000374762	T	0.53206	0.63	3.93	3.93	0.45458	Dimeric alpha-beta barrel (1);	0.073760	0.56097	D	0.000027	T	0.68044	0.2958	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.70883	-0.4751	10	0.44086	T	0.13	-1.7056	12.1681	0.54141	0.0:0.0:0.0:1.0	.	62	Q9BS92	NPS3B_HUMAN	P	62	ENSP00000363894:L62P	ENSP00000363894:L62P	L	+	2	0	NIPSNAP3B	106568551	1.000000	0.71417	0.975000	0.42487	0.808000	0.45660	5.762000	0.68809	1.753000	0.51906	0.528000	0.53228	CTT		0.358	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	NM_018376		C	107528730	T	C	107528730	3	2	189	1	0	0	0	0	1	0	0	0	10433	1609	56	3	191	3	NIPSNAP3B	9	107528730	Missense_Mutation	SNP	T	TCGA-B0-5106-01A-01D-1421-08	7396460	107528730	33684701	48	11777											
DDX50	79009	hgsc.bcm.edu;ucsc.edu	37	10	70706119	70706128	+	Frame_Shift_Del	DEL	TGATTCCGAC	TGATTCCGAC	-	rs144659191	byFrequency	TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	TGATTCCGAC	TGATTCCGAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr10:70706119_70706128delTGATTCCGAC	ENST00000373585.3	+	15	2054_2063	c.1947_1956delTGATTCCGAC	c.(1945-1956)catgattccgacfs	p.HDSD649fs	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	649						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CAGAGTGGCATGATTCCGACTGGATACTCT	0.386																																																0																																										SO:0001589	frameshift_variant	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1947_1956delTGATTCCGAC	10.37:g.70706119_70706128delTGATTCCGAC	ENSP00000362687:p.His649fs		Q5VX37|Q8WV76|Q9BWI8	Frame_Shift_Del	DEL	ENST00000373585.3	37	CCDS7283.1																																																																																				0.386	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		-	70706128	TGATTCCGAC	-	70706119	7	5	189	1	0	1	0	1	0	0	0	0	4370	1461	51	0	2005	0	DDX50	10	70706119	Frame_Shift_Del	DEL	TGATTCCGAC	TCGA-B0-5106-01A-01D-1421-08		70706119	64828628	49	11778											
HECTD2	143279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93220253	93220253	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr10:93220253C>T	ENST00000298068.5	+	3	432	c.338C>T	c.(337-339)tCc>tTc	p.S113F	HECTD2_ENST00000371681.4_Missense_Mutation_p.S113F|HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000446394.1_Missense_Mutation_p.S113F	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	113					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S113F(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GCATCATCATCCGAAATGAAG	0.373																																					NSCLC(12;376 469 1699 39910 41417)											1	Substitution - Missense(1)	kidney(1)											150	134	139					10																	93220253		2203	4300	6503	SO:0001583	missense	143279			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.338C>T	10.37:g.93220253C>T	ENSP00000298068:p.Ser113Phe		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376557	0.24857	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.48201	1.17;0.82;1.17	5.39	4.48	0.54585	.	0.184440	0.47852	D	0.000219	T	0.52484	0.1737	L	0.44542	1.39	0.80722	D	1	B;P;D	0.61080	0.128;0.511;0.989	B;B;P	0.58172	0.04;0.087;0.834	T	0.52533	-0.8563	10	0.56958	D	0.05	.	10.0663	0.42306	0.1355:0.7897:0.0:0.0748	.	113;113;113	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	F	113	ENSP00000401023:S113F;ENSP00000360746:S113F;ENSP00000298068:S113F	ENSP00000298068:S113F	S	+	2	0	HECTD2	93210233	0.998000	0.40836	0.978000	0.43139	0.049000	0.14656	3.686000	0.54685	2.502000	0.84385	0.563000	0.77884	TCC		0.373	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			T	93220253	C	T	93220253	3	4	189	1	0	0	0	0	1	0	0	0	7042	855	30	2	348	2	HECTD2	10	93220253	Missense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08	22514134	93220253	42314494	50	11779											
NT5C2	22978	hgsc.bcm.edu;ucsc.edu	37	10	104934672	104934673	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr10:104934672_104934673delAT	ENST00000404739.3	-	1	66_67	c.43_44delAT	c.(43-45)atgfs	p.M15fs	NT5C2_ENST00000470299.1_Frame_Shift_Del_p.M15fs|NT5C2_ENST00000343289.5_Frame_Shift_Del_p.M15fs|NT5C2_ENST00000369857.4_Intron			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	15					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GTTAGCAGGCATATCTGCTGCA	0.347																																																0																																										SO:0001589	frameshift_variant	22978			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.43_44delAT	10.37:g.104934674_104934675delAT	ENSP00000383960:p.Met15fs		B7Z382|D3DR91|Q5JUV5	Frame_Shift_Del	DEL	ENST00000404739.3	37	CCDS7544.1																																																																																				0.347	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		-	104934673	AT	-	104934672	7	5	189	1	0	1	0	1	0	0	0	0	10689	217	8	0	1709	0	NT5C2	10	104934672	Frame_Shift_Del	DEL	AT	TCGA-B0-5106-01A-01D-1421-08	11714419	104934672	30600075	51	11780											
MUC5B	727897	broad.mit.edu;hgsc.bcm.edu	37	11	1264224	1264224	+	Silent	SNP	C	C	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr11:1264224C>A	ENST00000529681.1	+	31	6172	c.6114C>A	c.(6112-6114)acC>acA	p.T2038T	MUC5B_ENST00000447027.1_Silent_p.T2041T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2038	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2041T(1)|p.T2038T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGTGGCCACCCCCTCCTCCA	0.647																																																2	Substitution - coding silent(2)	kidney(2)											112	142	132					11																	1264224		2074	4192	6266	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6114C>A	11.37:g.1264224C>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1264224	C	A	1264224	2	1	189	1	0	0	0	0	0	0	0	1	9981	610	22	4		4	MUC5B	11	1264224	Silent	SNP	C	TCGA-B0-5106-01A-01D-1421-08		1264224	133742292	52	11781											
SLC3A2	6520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62650443	62650443	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr11:62650443A>G	ENST00000377890.2	+	6	1133	c.965A>G	c.(964-966)cAg>cGg	p.Q322R	SLC3A2_ENST00000535296.1_Missense_Mutation_p.Q291R|SLC3A2_ENST00000377891.2_Missense_Mutation_p.Q323R|SLC3A2_ENST00000338663.7_Missense_Mutation_p.Q221R|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.Q260R|SLC3A2_ENST00000377892.1_Missense_Mutation_p.Q353R	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	322					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.Q353R(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TTCTCCACTCAGGTTGACACT	0.547																																																1	Substitution - Missense(1)	kidney(1)											147	117	127					11																	62650443		2201	4298	6499	SO:0001583	missense	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.965A>G	11.37:g.62650443A>G	ENSP00000367122:p.Gln322Arg		Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	A	15.57	2.872936	0.51695	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606	D;D;D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85;-4.83;-4.85	4.58	4.58	0.56647	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.897130	0.02113	N	0.054979	D	0.97179	0.9078	M	0.63428	1.95	0.09310	N	1	B;B;B;B;B	0.28470	0.159;0.003;0.017;0.007;0.213	B;B;B;B;B	0.28784	0.036;0.015;0.028;0.008;0.094	D	0.87653	0.2529	10	0.14252	T	0.57	-2.611	12.2242	0.54451	1.0:0.0:0.0:0.0	.	260;291;322;221;353	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	R	353;323;322;323;260;291;221;203	ENSP00000367124:Q353R;ENSP00000367123:Q323R;ENSP00000367122:Q322R;ENSP00000367121:Q260R;ENSP00000444236:Q291R;ENSP00000340815:Q221R	ENSP00000340815:Q221R	Q	+	2	0	SLC3A2	62407019	0.020000	0.18652	0.007000	0.13788	0.515000	0.34225	2.014000	0.40951	1.849000	0.53698	0.459000	0.35465	CAG		0.547	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		G	62650443	A	G	62650443	3	3	189	1	0	0	0	0	1	0	0	0	14633	188	7	3	1087	3	SLC3A2	11	62650443	Missense_Mutation	SNP	A	TCGA-B0-5106-01A-01D-1421-08	61386219	62650443	72356073	53	11782											
YAP1	10413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	102100588	102100588	+	Silent	SNP	T	T	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr11:102100588T>C	ENST00000282441.5	+	9	1820	c.1432T>C	c.(1432-1434)Ttg>Ctg	p.L478L	YAP1_ENST00000524575.1_Silent_p.L300L|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000531439.1_Silent_p.L462L|YAP1_ENST00000345877.2_Silent_p.L428L|YAP1_ENST00000537274.1_Silent_p.L466L|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000526343.1_Silent_p.L424L	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	478	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.L478L(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GCAGGAAGCTTTGAGTTCTGA	0.468																																					Colon(50;247 1103 7861 28956)											1	Substitution - coding silent(1)	kidney(1)											130	129	129					11																	102100588		2203	4299	6502	SO:0001819	synonymous_variant	10413				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1432T>C	11.37:g.102100588T>C			B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	37	CCDS44716.1																																																																																				0.468	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		C	102100588	T	C	102100588	2	2	189	1	0	0	0	0	0	0	0	1	17471	1838	64	3		3	YAP1	11	102100588	Silent	SNP	T	TCGA-B0-5106-01A-01D-1421-08	39450145	102100588	32905928	54	11783											
HSPA8	3312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	122931841	122931841	+	Silent	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr11:122931841G>A	ENST00000532636.1	-	2	311	c.192C>T	c.(190-192)acC>acT	p.T64T	HSPA8_ENST00000453788.2_Silent_p.T64T|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000534624.1_Silent_p.T64T|HSPA8_ENST00000526110.1_Silent_p.T64T|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000227378.3_Silent_p.T64T|HSPA8_ENST00000533540.1_Silent_p.T64T			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	64					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.T64T(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAACTGTGTTGGTGGGGTTCA	0.428																																					Colon(21;486 594 5900 6733 14272)											1	Substitution - coding silent(1)	kidney(1)											61	55	57					11																	122931841		2202	4299	6501	SO:0001819	synonymous_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.192C>T	11.37:g.122931841G>A			Q9H3R6	Silent	SNP	ENST00000532636.1	37	CCDS8440.1																																																																																				0.428	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			A	122931841	G	A	122931841	2	1	189	1	0	0	0	0	0	0	0	1	7418	1335	47	2		2	HSPA8	11	122931841	Silent	SNP	G	TCGA-B0-5106-01A-01D-1421-08	20831253	122931841	12074675	55	11784											
ZBTB44	29068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	130131043	130131043	+	Silent	SNP	A	A	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr11:130131043A>T	ENST00000357899.4	-	2	998	c.726T>A	c.(724-726)ccT>ccA	p.P242P	ZBTB44_ENST00000530205.1_Silent_p.P242P|ZBTB44_ENST00000525842.1_Silent_p.P242P|ZBTB44_ENST00000397753.1_Silent_p.P242P			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P242P(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TAACTTTCTCAGGCTGAATCC	0.418																																																1	Substitution - coding silent(1)	kidney(1)											63	58	59					11																	130131043		1839	4078	5917	SO:0001819	synonymous_variant	29068			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.726T>A	11.37:g.130131043A>T			Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.394|7.394	0.631461|0.631461	0.14322|0.14322	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000529982|ENST00000527478	.|.	.|.	.|.	5.58|5.58	1.77|1.77	0.24775|0.24775	.|.	.|.	.|.	.|.	.|.	T|.	0.54902|.	0.1887|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49418|.	-0.8942|.	4|.	.|.	.|.	.|.	.|.	7.2665|7.2665	0.26232|0.26232	0.6346:0.1979:0.0:0.1675|0.6346:0.1979:0.0:0.1675	.|.	.|.	.|.	.|.	Q|R	96|239	.|.	.|.	L|X	-|-	2|1	0|0	ZBTB44|ZBTB44	129636253|129636253	0.973000|0.973000	0.33851|0.33851	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.163000|0.163000	0.16520|0.16520	0.909000|0.909000	0.36697|0.36697	0.460000|0.460000	0.39030|0.39030	CTG|TGA		0.418	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		T	130131043	A	T	130131043	2	4	189	1	0	0	0	0	0	0	0	1	17550	175	7	5		5	ZBTB44	11	130131043	Silent	SNP	A	TCGA-B0-5106-01A-01D-1421-08	7199202	130131043	4875473	56	11785											
PTPN11	5781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112891015	112891015	+	Missense_Mutation	SNP	C	C	T	rs398122859		TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr12:112891015C>T	ENST00000351677.2	+	4	547	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	PTPN11_ENST00000392597.1_Missense_Mutation_p.L117F	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	117	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.L117F(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCATGGACATCTCTCTGGGAA	0.358			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																														Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	1	Substitution - Missense(1)	kidney(1)											69	74	72					12																	112891015		2203	4300	6503	SO:0001583	missense	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.349C>T	12.37:g.112891015C>T	ENSP00000340944:p.Leu117Phe		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875583	0.72180	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.89875	-2.58;-2.58	5.55	4.65	0.58169	.	0.061309	0.64402	D	0.000005	D	0.95351	0.8491	M	0.92122	3.275	0.58432	D	0.999998	D;D	0.71674	0.998;0.985	D;D	0.72625	0.978;0.94	D	0.95978	0.8975	10	0.72032	D	0.01	.	13.5218	0.61572	0.0:0.9236:0.0:0.0764	.	117;117	Q06124-2;Q06124-3	.;.	F	117	ENSP00000376376:L117F;ENSP00000340944:L117F	ENSP00000340944:L117F	L	+	1	0	PTPN11	111375398	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.886000	0.56190	1.326000	0.45319	0.555000	0.69702	CTC		0.358	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			T	112891015	C	T	112891015	3	4	189	1	0	0	0	0	1	0	0	0	12786	913	32	2	363	2	PTPN11	12	112891015	Missense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08		112891015	20960880	57	11786											
SUDS3	64426	hgsc.bcm.edu	37	12	118839609	118839609	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr12:118839609delT	ENST00000543473.1	+	8	971	c.659delT	c.(658-660)ctgfs	p.L220fs	SUDS3_ENST00000397564.2_Frame_Shift_Del_p.L221fs	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	220	Sin3 interaction domain (SID). {ECO:0000250|UniProtKB:Q8BR65}.				apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGGAGGATCTGAGAACATTA	0.333																																																0													197	178	184					12																	118839609		1827	4083	5910	SO:0001589	frameshift_variant	64426			AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"sin3A-associated protein, 45kDa"	608250	"suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.659delT	12.37:g.118839609delT	ENSP00000443988:p.Leu220fs		Q4KMQ5|Q8N6H0|Q9H8D2	Frame_Shift_Del	DEL	ENST00000543473.1	37	CCDS44993.1																																																																																				0.333	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		-	118839609	T	-	118839609	7	5	189	1	0	1	0	1	0	0	0	0	15372	1580	55	0	689	0	SUDS3	12	118839609	Frame_Shift_Del	DEL	T	TCGA-B0-5106-01A-01D-1421-08	5948594	118839609	15012286	58	11787											
PITPNM2	57605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123481921	123481921	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr12:123481921G>T	ENST00000542749.1	-	9	1486	c.1423C>A	c.(1423-1425)Ctg>Atg	p.L475M	PITPNM2_ENST00000320201.4_Missense_Mutation_p.L475M|PITPNM2_ENST00000392428.1_Missense_Mutation_p.L196M|PITPNM2_ENST00000280562.5_Missense_Mutation_p.L475M|PITPNM2_ENST00000451868.2_5'Flank			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	475					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.L475M(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CAGGGCACCAGGCGGATGGCA	0.652																																																1	Substitution - Missense(1)	kidney(1)											80	78	79					12																	123481921		2203	4300	6503	SO:0001583	missense	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1423C>A	12.37:g.123481921G>T	ENSP00000437611:p.Leu475Met		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595905	0.46318	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	4.83	4.83	0.62350	.	0.174710	0.37955	N	0.001870	T	0.26448	0.0646	L	0.55743	1.74	0.40762	D	0.983019	P;P	0.39903	0.694;0.5	B;B	0.40410	0.328;0.11	T	0.05435	-1.0885	10	0.40728	T	0.16	-17.8402	17.9593	0.89079	0.0:0.0:1.0:0.0	.	475;475	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	M	475;475;196;475	ENSP00000280562:L475M;ENSP00000322218:L475M;ENSP00000376223:L196M;ENSP00000437611:L475M	ENSP00000280562:L475M	L	-	1	2	PITPNM2	122047874	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.062000	0.49971	2.235000	0.73313	0.563000	0.77884	CTG		0.652	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		T	123481921	G	T	123481921	3	4	189	1	0	0	0	0	1	0	0	0	11953	991	35	4	2690	4	PITPNM2	12	123481921	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	4642312	123481921	10369974	59	11788											
PAN3	255967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	28844883	28844883	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr13:28844883C>A	ENST00000380958.3	+	13	1990	c.1838C>A	c.(1837-1839)cCa>cAa	p.P613Q	PAN3_ENST00000282391.5_Missense_Mutation_p.P301Q|PAN3_ENST00000399613.1_Missense_Mutation_p.P413Q	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.P413Q(1)|p.P613Q(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GGATTATTGCCAGAATCTCTT	0.403																																																2	Substitution - Missense(2)	kidney(2)											158	144	149					13																	28844883		2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1838C>A	13.37:g.28844883C>A	ENSP00000370345:p.Pro613Gln			Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856725	0.91433	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.21543	2.0;2.0;2.0	5.42	5.42	0.78866	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48519	0.1504	M	0.71036	2.16	0.80722	D	1	P;D;D;D	0.89917	0.845;1.0;1.0;1.0	P;D;D;D	0.91635	0.729;0.999;0.999;0.999	T	0.36237	-0.9756	10	0.46703	T	0.11	-11.4912	19.5822	0.95471	0.0:1.0:0.0:0.0	.	613;613;301;559	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	Q	613;413;301	ENSP00000370345:P613Q;ENSP00000382522:P413Q;ENSP00000282391:P301Q	ENSP00000282391:P301Q	P	+	2	0	PAN3	27742883	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.704000	0.92352	0.563000	0.77884	CCA		0.403	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		A	28844883	C	A	28844883	3	1	189	1	0	0	0	0	1	0	0	0	11417	594	21	4	1888	4	PAN3	13	28844883	Missense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08		28844883	86324995	60	11789											
UCHL3	7347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	76140954	76140954	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr13:76140954G>A	ENST00000377595.3	+	4	337	c.307G>A	c.(307-309)Gct>Act	p.A103T	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	103					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A103T(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		ACTGATTCATGCTATTGCAAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											131	125	127					13																	76140954		2203	4300	6503	SO:0001583	missense	7347			M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.307G>A	13.37:g.76140954G>A	ENSP00000366819:p.Ala103Thr		B2R970|Q5TBK8|Q6IBE9	Missense_Mutation	SNP	ENST00000377595.3	37	CCDS9453.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021412	0.75275	.	.	ENSG00000118939	ENST00000377595;ENST00000377589;ENST00000419068	T;T	0.57436	0.4;0.4	5.91	5.91	0.95273	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (5);	0.047481	0.85682	D	0.000000	T	0.63129	0.2485	M	0.87381	2.88	0.80722	D	1	P	0.35208	0.49	B	0.39840	0.311	T	0.67929	-0.5543	10	0.66056	D	0.02	-4.1301	13.4829	0.61348	0.0708:0.0:0.9291:0.0	.	103	P15374	UCHL3_HUMAN	T	103;60;37	ENSP00000366819:A103T;ENSP00000398189:A37T	ENSP00000366813:A60T	A	+	1	0	UCHL3	75038955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.690000	0.84178	2.793000	0.96121	0.655000	0.94253	GCT		0.343	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002		A	76140954	G	A	76140954	3	1	189	1	0	0	0	0	1	0	0	0	16926	1319	46	2	321	2	UCHL3	13	76140954	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	47296071	76140954	39028924	61	11790											
PSMC6	5706	broad.mit.edu;hgsc.bcm.edu	37	14	53187597	53187597	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr14:53187597G>A	ENST00000606149.1	+	11	812	c.796G>A	c.(796-798)Gga>Aga	p.G266R	PSMC6_ENST00000445930.2_Missense_Mutation_p.G280R	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	266					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)|ATP catabolic process (GO:0006200)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)	p.G266R(1)|p.G280R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TCAAATGGATGGATTTGATAC	0.323																																																2	Substitution - Missense(2)	kidney(2)											44	46	45					14																	53187597		2203	4300	6503	SO:0001583	missense	5706				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.796G>A	14.37:g.53187597G>A	ENSP00000475721:p.Gly266Arg		B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37		.	.	.	.	.	.	.	.	.	.	G	29.4	5.000866	0.93227	.	.	ENSG00000100519	ENST00000445930	D	0.95518	-3.73	4.93	4.93	0.64822	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.98014	1.0367	10	0.87932	D	0	.	18.4944	0.90860	0.0:0.0:1.0:0.0	.	266	P62333	PRS10_HUMAN	R	280	ENSP00000401802:G280R	ENSP00000401802:G280R	G	+	1	0	PSMC6	52257347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.420000	0.82092	0.585000	0.79938	GGA		0.323	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		A	53187597	G	A	53187597	3	1	189	1	0	0	0	0	1	0	0	0	12696	1349	47	2	880	2	PSMC6	14	53187597	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08		53187597	54161943	62	11791											
FERMT2	10979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	53417220	53417220	+	Missense_Mutation	SNP	G	G	A	rs147527926		TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr14:53417220G>A	ENST00000395631.2	-	2	283	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	FERMT2_ENST00000343279.4_Missense_Mutation_p.H23Y|FERMT2_ENST00000341590.3_Missense_Mutation_p.H23Y|FERMT2_ENST00000399304.3_Missense_Mutation_p.H23Y|FERMT2_ENST00000553373.1_Missense_Mutation_p.H23Y			Q96AC1	FERM2_HUMAN	fermitin family member 2	23					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.H23Y(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TCCGTCACATGGACACTCAGT	0.597													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15301	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	TYR/HIS,TYR/HIS,TYR/HIS	0,4406		0,0,2203	217	180	193		67,67,67	4.5	1	14	dbSNP_134	193	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	FERMT2	NM_001134999.1,NM_001135000.1,NM_006832.2	83,83,83	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign,benign,benign	23/688,23/634,23/681	53417220	5,13001	2203	4300	6503	SO:0001583	missense	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.67C>T	14.37:g.53417220G>A	ENSP00000378993:p.His23Tyr		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	CCDS9713.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.61	1.398236	0.25205	0.0	5.81E-4	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000554712	T;T;T;T;T	0.42900	0.97;0.97;0.96;0.96;0.96	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	N	0.01048	-1.04	0.80722	D	1	B;P;B	0.41498	0.011;0.752;0.044	B;B;B	0.38225	0.021;0.268;0.017	T	0.34153	-0.9840	10	0.02654	T	1	.	16.7199	0.85407	0.0:0.0:1.0:0.0	.	23;23;23	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	Y	23	ENSP00000378993:H23Y;ENSP00000340391:H23Y;ENSP00000342858:H23Y;ENSP00000451084:H23Y;ENSP00000382243:H23Y	ENSP00000340391:H23Y	H	-	1	0	FERMT2	52486970	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.416000	0.97383	2.006000	0.58801	0.462000	0.41574	CAT		0.597	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		A	53417220	G	A	53417220	3	1	189	1	0	0	0	0	1	0	0	0	5820	1348	47	2	2068	2	FERMT2	14	53417220	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	229623	53417220	53932320	63	11792											
NDN	4692	broad.mit.edu;hgsc.bcm.edu	37	15	23932263	23932263	+	Silent	SNP	C	C	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr15:23932263C>T	ENST00000331837.4	-	1	187	c.102G>A	c.(100-102)ccG>ccA	p.P34P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	34					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P34P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGGTCGCGGACGGAGGAACCC	0.692									Prader-Willi syndrome																																							1	Substitution - coding silent(1)	kidney(1)											11	12	12					15																	23932263		1716	3420	5136	SO:0001819	synonymous_variant	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.102G>A	15.37:g.23932263C>T			B2R6Z5	Silent	SNP	ENST00000331837.4	37	CCDS10014.1																																																																																				0.692	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		T	23932263	C	T	23932263	2	4	189	1	0	0	0	0	0	0	0	1	10249	523	19	1		1	NDN	15	23932263	Silent	SNP	C	TCGA-B0-5106-01A-01D-1421-08		23932263	78599129	64	11793											
LINGO1	84894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	77907673	77907673	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr15:77907673G>C	ENST00000355300.6	-	2	750	c.576C>G	c.(574-576)agC>agG	p.S192R	LINGO1_ENST00000561030.1_Missense_Mutation_p.S186R	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	192					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S186R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCTGCTCCAGGCTGTTGAGGC	0.597																																																1	Substitution - Missense(1)	kidney(1)											118	125	122					15																	77907673		2168	4272	6440	SO:0001583	missense	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.576C>G	15.37:g.77907673G>C	ENSP00000347451:p.Ser192Arg		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374915	0.61735	.	.	ENSG00000169783	ENST00000355300	D	0.81659	-1.52	5.29	3.3	0.37823	.	0.079382	0.85682	D	0.000000	T	0.78400	0.4277	L	0.42581	1.335	0.80722	D	1	D	0.60575	0.988	P	0.51777	0.679	T	0.76296	-0.3011	10	0.37606	T	0.19	.	10.3879	0.44152	0.0735:0.1348:0.7917:0.0	.	192	Q96FE5	LIGO1_HUMAN	R	192	ENSP00000347451:S192R	ENSP00000347451:S192R	S	-	3	2	LINGO1	75694728	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.711000	0.68400	1.239000	0.43787	-0.258000	0.10820	AGC		0.597	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		C	77907673	G	C	77907673	3	2	189	1	0	0	0	0	1	0	0	0	8816	1194	42	4	1290	4	LINGO1	15	77907673	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	53975410	77907673	24623719	65	11794											
DNAJA4	55466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78565450	78565450	+	Silent	SNP	A	A	G			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr15:78565450A>G	ENST00000394852.3	+	3	517	c.327A>G	c.(325-327)gtA>gtG	p.V109V	DNAJA4_ENST00000446172.2_Silent_p.V82V|DNAJA4_ENST00000343789.3_Silent_p.V109V|DNAJA4_ENST00000394855.3_Silent_p.V138V	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	109					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.V82V(1)|p.V109V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AGAATGTTGTACACCAGTTAT	0.338																																																2	Substitution - coding silent(2)	kidney(2)											111	119	117					15																	78565450		2196	4293	6489	SO:0001819	synonymous_variant	55466			AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"Heat shock proteins / DNAJ (HSP40)"	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.327A>G	15.37:g.78565450A>G			E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Silent	SNP	ENST00000394852.3	37	CCDS45316.1																																																																																				0.338	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		G	78565450	A	G	78565450	2	3	189	1	0	0	0	0	0	0	0	1	4616	378	14	3		3	DNAJA4	15	78565450	Silent	SNP	A	TCGA-B0-5106-01A-01D-1421-08	657777	78565450	23965942	66	11795											
AMDHD2	51005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2579481	2579481	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr16:2579481G>A	ENST00000293971.6	+	11	1241	c.1147G>A	c.(1147-1149)Gtg>Atg	p.V383M	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000302956.4_Missense_Mutation_p.V413M|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.V413M|MIR3178_ENST00000581887.1_RNA	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	383					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)	p.V413M(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CCCAGACTTCGTGGTGCTCGA	0.652																																																2	Substitution - Missense(2)	endometrium(1)|kidney(1)											128	103	112					16																	2579481		2198	4300	6498	SO:0001583	missense	51005			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.1147G>A	16.37:g.2579481G>A	ENSP00000293971:p.Val383Met		B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.011412	0.75046	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	T;D;T	0.92446	0.27;-3.04;0.56	5.28	5.28	0.74379	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.123452	0.53938	D	0.000048	D	0.96237	0.8773	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.991	D;D;D	0.76071	0.987;0.95;0.917	D	0.96697	0.9515	10	0.87932	D	0	-28.0632	14.0668	0.64834	0.0:0.1518:0.8482:0.0	.	413;383;413	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	M	413;413;383	ENSP00000391596:V413M;ENSP00000307481:V413M;ENSP00000293971:V383M	ENSP00000293971:V383M	V	+	1	0	AMDHD2	2519482	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.263000	0.58853	2.470000	0.83445	0.655000	0.94253	GTG		0.652	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		A	2579481	G	A	2579481	3	1	189	1	0	0	0	0	1	0	0	0	568	1145	40	1	1275	1	AMDHD2	16	2579481	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08		2579481	87775272	67	11796											
NFAT5	10725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69727140	69727140	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr16:69727140C>A	ENST00000354436.2	+	12	3676	c.3358C>A	c.(3358-3360)Caa>Aaa	p.Q1120K	NFAT5_ENST00000566899.1_Missense_Mutation_p.Q1044K|NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1137K|NFAT5_ENST00000349945.1_Missense_Mutation_p.Q1044K|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q1044K|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1138K	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1120					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q1044K(1)|p.Q1138K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTTTCACTCTCAAAGTACCAT	0.428																																																2	Substitution - Missense(2)	kidney(2)											106	108	107					16																	69727140		2198	4300	6498	SO:0001583	missense	10725			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.3358C>A	16.37:g.69727140C>A	ENSP00000346420:p.Gln1120Lys		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552582	0.65425	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.53857	0.6;0.68;0.68;0.68	5.83	5.83	0.93111	.	0.269957	0.38605	N	0.001636	T	0.69637	0.3133	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.54964	0.969;0.969;0.969	D;D;D	0.64877	0.93;0.93;0.93	T	0.65936	-0.6047	10	0.42905	T	0.14	-1.5194	20.1162	0.97934	0.0:1.0:0.0:0.0	.	1137;1120;1138	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	K	1138;1137;1044;1120;1044	ENSP00000396538:Q1138K;ENSP00000338806:Q1044K;ENSP00000346420:Q1120K;ENSP00000377343:Q1044K	ENSP00000338806:Q1044K	Q	+	1	0	NFAT5	68284641	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	5.790000	0.69038	2.756000	0.94617	0.655000	0.94253	CAA		0.428	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		A	69727140	C	A	69727140	3	1	189	1	0	0	0	0	1	0	0	0	10362	827	29	4	3462	4	NFAT5	16	69727140	Missense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08	67147659	69727140	20627613	68	11797											
OR1D2	4991	broad.mit.edu;hgsc.bcm.edu	37	17	2995985	2995985	+	Nonsense_Mutation	SNP	G	G	T	rs140264769		TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr17:2995985G>T	ENST00000331459.1	-	1	305	c.306C>A	c.(304-306)taC>taA	p.Y102*		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	102					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y102*(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AGACCAGGAAGTAGAGCTGTG	0.547																																																1	Substitution - Nonsense(1)	kidney(1)						G	stop/TYR	0,4406		0,0,2203	163	169	167		306	0.8	1	17	dbSNP_134	167	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained	OR1D2	NM_002548.2		0,1,6500	TT,TG,GG		0.0116,0.0,0.0077		102/313	2995985	1,13001	2203	4298	6501	SO:0001587	stop_gained	4991			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.306C>A	17.37:g.2995985G>T	ENSP00000327585:p.Tyr102*		Q6IFL8|Q96RA4|Q9UM78	Nonsense_Mutation	SNP	ENST00000331459.1	37	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	g	19.37	3.814342	0.70912	0.0	1.16E-4	ENSG00000184166	ENST00000331459	.	.	.	3.0	0.841	0.18918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7208	0.17986	0.4933:0.0:0.5067:0.0	.	.	.	.	X	102	.	ENSP00000327585:Y102X	Y	-	3	2	OR1D2	2942735	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	-0.198000	0.09505	0.447000	0.26695	0.543000	0.68304	TAC		0.547	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		T	2995985	G	T	2995985	4	4	189	1	0	0	0	0	0	1	0	0	10955	1024	36	4	635	4	OR1D2	17	2995985	Nonsense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08		2995985	78199225	69	11798											
TIAF1	9220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27401024	27401024	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr17:27401024G>T	ENST00000359450.6	-	1	4851	c.194C>A	c.(193-195)cCc>cAc	p.P65H	MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.P65H|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	65					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)		p.P65H(1)		kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGACAAAGAGGGTGGGGTGGG	0.582																																																1	Substitution - Missense(1)	kidney(1)											102	84	90					17																	27401024		2203	4300	6503	SO:0001583	missense	9220			AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.194C>A	17.37:g.27401024G>T	ENSP00000352424:p.Pro65His		A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	37	CCDS32599.1	.	.	.	.	.	.	.	.	.	.	G	0.545	-0.851827	0.02651	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	3.77	-0.597	0.11653	.	.	.	.	.	T	0.24547	0.0595	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.59889	0.865	T	0.14117	-1.0484	8	0.87932	D	0	.	4.612	0.12408	0.2922:0.1623:0.5455:0.0	.	65	O95411	TIAF1_HUMAN	H	65	.	ENSP00000386130:P65H	P	-	2	0	TIAF1	24425150	0.111000	0.22076	0.000000	0.03702	0.130000	0.20726	1.159000	0.31749	-0.039000	0.13602	0.655000	0.94253	CCC		0.582	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		T	27401024	G	T	27401024	3	4	189	1	0	0	0	0	1	0	0	0	15893	1232	43	4	157	4	TIAF1	17	27401024	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	24405039	27401024	53794186	70	11799											
TUBG1	7283	broad.mit.edu;hgsc.bcm.edu	37	17	40765980	40765980	+	Silent	SNP	C	C	T	rs145699955	byFrequency	TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr17:40765980C>T	ENST00000251413.3	+	8	869	c.807C>T	c.(805-807)ctC>ctT	p.L269L		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	269					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L269L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	TCCACTTCCTCATGACCGGCT	0.632																																					Colon(20;114 698 11420 22864)											1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	213	177	189		807	3.6	1	17	dbSNP_134	189	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TUBG1	NM_001070.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		269/452	40765980	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7283			BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.807C>T	17.37:g.40765980C>T			Q53X79|Q9BW59	Silent	SNP	ENST00000251413.3	37	CCDS11433.1																																																																																				0.632	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		T	40765980	C	T	40765980	2	4	189	1	0	0	0	0	0	0	0	1	16769	813	29	2		2	TUBG1	17	40765980	Silent	SNP	C	TCGA-B0-5106-01A-01D-1421-08	13364956	40765980	40429230	71	11800											
NAT9	26151	broad.mit.edu;ucsc.edu	37	17	72769778	72769778	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr17:72769778A>G	ENST00000357814.3	-	3	200	c.127T>C	c.(127-129)Tcg>Ccg	p.S43P	NAT9_ENST00000581136.1_Missense_Mutation_p.S43P|NAT9_ENST00000583757.1_Missense_Mutation_p.S42P|TMEM104_ENST00000417024.2_5'Flank|NAT9_ENST00000580301.1_Missense_Mutation_p.S42P|NAT9_ENST00000580216.1_5'UTR|TMEM104_ENST00000335464.5_5'Flank|NAT9_ENST00000582870.1_Missense_Mutation_p.S47P|NAT9_ENST00000580632.1_Missense_Mutation_p.S42P|TMEM104_ENST00000582330.1_5'Flank|NAT9_ENST00000582524.1_Missense_Mutation_p.S43P|TMEM104_ENST00000582773.1_5'Flank|NAT9_ENST00000578822.1_Missense_Mutation_p.S48P|NAT9_ENST00000583476.1_Missense_Mutation_p.S43P	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	43	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)	p.S43P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AGCGGCTCCGAGGCTGTCAAA	0.592																																																1	Substitution - Missense(1)	kidney(1)											110	100	103					17																	72769778		2203	4300	6503	SO:0001583	missense	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.127T>C	17.37:g.72769778A>G	ENSP00000350467:p.Ser43Pro		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	ENST00000357814.3	37	CCDS11706.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883029	0.51908	.	.	ENSG00000109065	ENST00000357814	T	0.45276	0.9	4.87	4.87	0.63330	Acyl-CoA N-acyltransferase (2);	0.072630	0.64402	D	0.000016	T	0.73682	0.3618	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80799	-0.1221	10	0.44086	T	0.13	-11.0843	14.7688	0.69659	1.0:0.0:0.0:0.0	.	42;43	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	P	43	ENSP00000350467:S43P	ENSP00000350467:S43P	S	-	1	0	NAT9	70281373	1.000000	0.71417	0.990000	0.47175	0.945000	0.59286	9.248000	0.95456	1.948000	0.56530	0.260000	0.18958	TCG		0.592	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654		G	72769778	A	G	72769778	3	3	189	1	0	0	0	0	1	0	0	0	10184	304	11	3	516	3	NAT9	17	72769778	Missense_Mutation	SNP	A	TCGA-B0-5106-01A-01D-1421-08	32003798	72769778	8425432	72	11801											
FHOD3	80206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	34156435	34156435	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr18:34156435A>G	ENST00000359247.4	+	6	533	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	FHOD3_ENST00000445677.1_Missense_Mutation_p.Y178C|FHOD3_ENST00000590592.1_Missense_Mutation_p.Y178C|FHOD3_ENST00000257209.4_Missense_Mutation_p.Y178C|FHOD3_ENST00000591635.1_5'UTR	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	178	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.Y178C(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATTATGTTGTATGTGGATGGA	0.368																																																1	Substitution - Missense(1)	kidney(1)											146	129	135					18																	34156435		2203	4300	6503	SO:0001583	missense	80206			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.533A>G	18.37:g.34156435A>G	ENSP00000352186:p.Tyr178Cys		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	A	22.5	4.296822	0.81025	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.19394	2.15;2.15;2.15	5.73	5.73	0.89815	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	M	0.79123	2.44	0.47276	D	0.99937	D;D;D	0.89917	0.998;1.0;0.997	D;D;D	0.91635	0.987;0.999;0.985	T	0.51679	-0.8675	10	0.87932	D	0	.	13.9605	0.64175	1.0:0.0:0.0:0.0	.	178;178;178	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	C	178	ENSP00000257209:Y178C;ENSP00000352186:Y178C;ENSP00000411430:Y178C	ENSP00000257209:Y178C	Y	+	2	0	FHOD3	32410433	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	8.862000	0.92283	2.176000	0.68965	0.533000	0.62120	TAT		0.368	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		G	34156435	A	G	34156435	3	3	189	1	0	0	0	0	1	0	0	0	5885	449	16	3	555	3	FHOD3	18	34156435	Missense_Mutation	SNP	A	TCGA-B0-5106-01A-01D-1421-08		34156435	43920813	73	11802											
FHOD3	80206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	34192014	34192014	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr18:34192014A>T	ENST00000359247.4	+	9	913	c.913A>T	c.(913-915)Aaa>Taa	p.K305*	FHOD3_ENST00000445677.1_Nonsense_Mutation_p.K305*|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.K305*|FHOD3_ENST00000257209.4_Nonsense_Mutation_p.K305*|FHOD3_ENST00000591635.1_5'UTR	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	305	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.K305*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTTGAACAAGAAAGGGACTGA	0.502																																																1	Substitution - Nonsense(1)	kidney(1)											201	161	174					18																	34192014		2203	4300	6503	SO:0001587	stop_gained	80206			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.913A>T	18.37:g.34192014A>T	ENSP00000352186:p.Lys305*		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Nonsense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	A	38	7.143663	0.98092	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4855	0.67614	1.0:0.0:0.0:0.0	.	.	.	.	X	305	.	ENSP00000257209:K305X	K	+	1	0	FHOD3	32446012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.256000	0.78350	2.158000	0.67659	0.454000	0.30748	AAA		0.502	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		T	34192014	A	T	34192014	4	4	189	1	0	0	0	0	0	1	0	0	5885	247	9	5	947	5	FHOD3	18	34192014	Nonsense_Mutation	SNP	A	TCGA-B0-5106-01A-01D-1421-08	35579	34192014	43885234	74	11803											
CHAF1A	10036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4409322	4409322	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr19:4409322C>G	ENST00000301280.5	+	3	627	c.526C>G	c.(526-528)Ctt>Gtt	p.L176V		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	176	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.L176V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGAGACCCTTTCAGACAT	0.567								Chromatin Structure																																								1	Substitution - Missense(1)	kidney(1)											85	85	85					19																	4409322		2203	4300	6503	SO:0001583	missense	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.526C>G	19.37:g.4409322C>G	ENSP00000301280:p.Leu176Val		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077907	0.36662	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.49720	0.77	5.56	3.35	0.38373	.	.	.	.	.	T	0.36358	0.0964	L	0.51422	1.61	0.21105	N	0.99978	P	0.38922	0.651	B	0.35859	0.212	T	0.43278	-0.9401	9	0.87932	D	0	-11.3419	2.8191	0.05467	0.1981:0.5325:0.167:0.1024	.	176	Q13111	CAF1A_HUMAN	V	176	ENSP00000301280:L176V	ENSP00000301280:L176V	L	+	1	0	CHAF1A	4360322	0.078000	0.21339	0.956000	0.39512	0.973000	0.67179	0.890000	0.28295	2.604000	0.88044	0.561000	0.74099	CTT		0.567	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		G	4409322	C	G	4409322	3	3	189	1	0	0	0	0	1	0	0	0	3313	681	24	4	536	4	CHAF1A	19	4409322	Missense_Mutation	SNP	C	TCGA-B0-5106-01A-01D-1421-08		4409322	54719661	75	11804											
TYK2	7297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10468695	10468695	+	Silent	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr19:10468695G>A	ENST00000525621.1	-	16	2776	c.2295C>T	c.(2293-2295)ggC>ggT	p.G765G	TYK2_ENST00000524462.1_Silent_p.G580G|TYK2_ENST00000529370.1_Silent_p.G765G|TYK2_ENST00000264818.6_Silent_p.G765G	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	765	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G765G(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGAGAGGGCGCCCAGGCCCA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											29	28	29					19																	10468695		2203	4300	6503	SO:0001819	synonymous_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2295C>T	19.37:g.10468695G>A			Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	CCDS12236.1																																																																																				0.652	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			A	10468695	G	A	10468695	2	1	189	1	0	0	0	0	0	0	0	1	16815	1074	38	1		1	TYK2	19	10468695	Silent	SNP	G	TCGA-B0-5106-01A-01D-1421-08	6059373	10468695	48660288	76	11805											
CACNA1A	773	broad.mit.edu;hgsc.bcm.edu	37	19	13325351	13325351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr19:13325351G>A	ENST00000360228.5	-	39	5802	c.5803C>T	c.(5803-5805)Cag>Tag	p.Q1935*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q1936*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1936					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.Q1936*(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCGTCTTCTGGGACAGATTG	0.587																																																3	Substitution - Nonsense(3)	kidney(3)											63	67	66					19																	13325351		2165	4259	6424	SO:0001587	stop_gained	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5803C>T	19.37:g.13325351G>A	ENSP00000353362:p.Gln1935*		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	46	12.936400	0.99707	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.4549	0.84009	0.0:0.0:1.0:0.0	.	.	.	.	X	1935;1941;1936;1936	.	ENSP00000317661:Q1936X	Q	-	1	0	CACNA1A	13186351	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	9.231000	0.95317	2.184000	0.69523	0.491000	0.48974	CAG		0.587	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13325351	G	A	13325351	4	1	189	1	0	0	0	0	0	1	0	0	2540	1357	47	2	1753	2	CACNA1A	19	13325351	Nonsense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	2856656	13325351	45803632	77	11806											
ZNF91	7644	hgsc.bcm.edu;ucsc.edu	37	19	23543184	23543187	+	Frame_Shift_Del	DEL	GATT	GATT	-			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	GATT	GATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr19:23543184_23543187delGATT	ENST00000300619.7	-	4	2799_2802	c.2594_2597delAATC	c.(2593-2598)caatctfs	p.QS865fs	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Frame_Shift_Del_p.QS833fs|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	865					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S866F(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAGATTTGAAGATTGATTAAAAGC	0.368																																																1	Substitution - Missense(1)	cervix(1)								3,4101		1,1,2050						-2.8	0			73	4,8180		1,2,4089	no	frameshift	ZNF91	NM_003430.2		2,3,6139	A1A1,A1R,RR		0.0489,0.0731,0.057				7,12281				SO:0001589	frameshift_variant	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2594_2597delAATC	19.37:g.23543188_23543191delGATT	ENSP00000300619:p.Gln865fs		A8K5E1|B7Z6G6	Frame_Shift_Del	DEL	ENST00000300619.7	37	CCDS42541.1																																																																																				0.368	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		-	23543187	GATT	-	23543184	7	5	189	1	0	1	0	1	0	0	0	0	18205	942	33	0	982	0	ZNF91	19	23543184	Frame_Shift_Del	DEL	GATT	TCGA-B0-5106-01A-01D-1421-08	10217833	23543184	35585799	78	11807											
NFKBID	84807	hgsc.bcm.edu	37	19	36387710	36387711	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr19:36387710_36387711insG	ENST00000396901.1	-	6	748_749	c.175_176insC	c.(175-177)cggfs	p.R59fs	NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000606253.1_Frame_Shift_Ins_p.R59fs|NFKBID_ENST00000352614.2_Frame_Shift_Ins_p.R211fs	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	59					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GCGCAGCCCCCGAGCCGCAAAC	0.614																																																0																																										SO:0001589	frameshift_variant	84807			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.176dupC	19.37:g.36387711_36387711dupG	ENSP00000380109:p.Arg59fs		Q8NI39|Q9BRG9	Frame_Shift_Ins	INS	ENST00000396901.1	37	CCDS42552.1																																																																																				0.614	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		G	36387711	-	G	36387710	7	5	189	1	0	1	1	0	0	0	0	0	10381	652	23	0	793	0	NFKBID	19	36387710	Frame_Shift_Ins	INS	-	TCGA-B0-5106-01A-01D-1421-08	12844526	36387710	22741273	79	11808											
CCDC61	729440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46519960	46519960	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr19:46519960A>C	ENST00000595358.1	+	10	1149	c.1100A>C	c.(1099-1101)cAg>cCg	p.Q367P	CCDC61_ENST00000536603.1_Missense_Mutation_p.Q187P|CCDC61_ENST00000594087.1_Missense_Mutation_p.Q187P|CCDC61_ENST00000263284.2_Missense_Mutation_p.Q386P|MIR769_ENST00000390225.1_RNA	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	367						centrosome (GO:0005813)		p.Q386P(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AGGCAGCAGCAGCGGAACCGC	0.672																																																1	Substitution - Missense(1)	kidney(1)											11	14	13					19																	46519960		1940	4111	6051	SO:0001583	missense	729440				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.1100A>C	19.37:g.46519960A>C	ENSP00000471454:p.Gln367Pro		C8CAP4|Q9HDB6	Missense_Mutation	SNP	ENST00000595358.1	37	CCDS46120.2	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834244	0.71373	.	.	ENSG00000104983	ENST00000263284;ENST00000536603	.	.	.	3.99	3.99	0.46301	.	0.055965	0.64402	D	0.000001	T	0.55257	0.1909	L	0.56769	1.78	0.22701	N	0.998838	D	0.64830	0.994	D	0.73380	0.98	T	0.41698	-0.9494	9	0.38643	T	0.18	-17.1558	9.5026	0.39026	1.0:0.0:0.0:0.0	.	329	Q9Y6R9	CCD61_HUMAN	P	386;187	.	ENSP00000263284:Q386P	Q	+	2	0	CCDC61	51211800	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.614000	0.36911	1.809000	0.52856	0.445000	0.29226	CAG		0.672	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	NM_001080402		C	46519960	A	C	46519960	3	2	189	1	0	0	0	0	1	0	0	0	2834	188	7	5	1199	5	CCDC61	19	46519960	Missense_Mutation	SNP	A	TCGA-B0-5106-01A-01D-1421-08	10132250	46519960	12609023	80	11809											
HRC	3270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49657389	49657389	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr19:49657389A>T	ENST00000252825.4	-	1	1292	c.1106T>A	c.(1105-1107)gTc>gAc	p.V369D	HRC_ENST00000595625.1_Missense_Mutation_p.V369D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	369					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.V369D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GCCATGGTGGACATGTTGGGG	0.547																																					Melanoma(37;75 1097 24567 25669 30645)											1	Substitution - Missense(1)	kidney(1)											165	135	145					19																	49657389		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1106T>A	19.37:g.49657389A>T	ENSP00000252825:p.Val369Asp		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	A	1.314	-0.601495	0.03744	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.32753	1.44	2.33	0.134	0.14771	.	.	.	.	.	T	0.13543	0.0328	N	0.22421	0.69	0.09310	N	1	P	0.37466	0.596	B	0.32289	0.143	T	0.19451	-1.0305	9	0.12430	T	0.62	-0.4146	4.2587	0.10730	0.377:0.0:0.623:0.0	.	369	P23327	SRCH_HUMAN	D	369;68;339	ENSP00000252825:V369D	ENSP00000252825:V369D	V	-	2	0	HRC	54349201	0.000000	0.05858	0.082000	0.20525	0.012000	0.07955	-0.673000	0.05239	0.091000	0.17302	-0.464000	0.05259	GTC		0.547	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		T	49657389	A	T	49657389	3	4	189	1	0	0	0	0	1	0	0	0	7354	275	10	5	1017	5	HRC	19	49657389	Missense_Mutation	SNP	A	TCGA-B0-5106-01A-01D-1421-08	3137429	49657389	9471594	81	11810											
C20orf26	26074	broad.mit.edu;ucsc.edu	37	20	20123553	20123553	+	Silent	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr20:20123553G>A	ENST00000245957.5	+	9	988	c.912G>A	c.(910-912)ttG>ttA	p.L304L	C20orf26_ENST00000451767.2_Silent_p.L304L|C20orf26_ENST00000377306.1_Silent_p.L304L|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		304								p.L304L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCGAGGAGTTGCAGGAACCTG	0.488																																																1	Substitution - coding silent(1)	kidney(1)											47	39	42					20																	20123553		2203	4299	6502	SO:0001819	synonymous_variant	26074																														ENST00000245957.5:c.912G>A	20.37:g.20123553G>A			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	CCDS33447.1																																																																																				0.488	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			A	20123553	G	A	20123553	2	1	189	1	0	0	0	0	0	0	0	1	2108	1310	46	2		2	C20orf26	20	20123553	Silent	SNP	G	TCGA-B0-5106-01A-01D-1421-08		20123553	42901967	82	11811											
WFDC5	149708	broad.mit.edu;hgsc.bcm.edu	37	20	43739049	43739049	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr20:43739049G>T	ENST00000307971.4	-	3	437	c.359C>A	c.(358-360)cCt>cAt	p.P120H	WFDC5_ENST00000372789.4_Missense_Mutation_p.P120H			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	120	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P120H(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				ACCTCTGGCAGGATCCCGGCA	0.612																																					NSCLC(199;98 2227 9943 13455 41914)											1	Substitution - Missense(1)	kidney(1)											15	17	17					20																	43739049		2203	4299	6502	SO:0001583	missense	149708			AY038181	CCDS33475.1	20q13.11	2013-01-21			ENSG00000175121	ENSG00000175121		"WAP four-disulfide core domain containing"	20477	protein-coding gene	gene with protein product		605161				12206714, 10680116	Standard	NM_145652		Approved	WAP1, dJ211D12.5	uc002xne.2	Q8TCV5	OTTHUMG00000046411	ENST00000307971.4:c.359C>A	20.37:g.43739049G>T	ENSP00000312381:p.Pro120His		Q5H981|Q6UWE4	Missense_Mutation	SNP	ENST00000307971.4	37		.	.	.	.	.	.	.	.	.	.	G	19.28	3.796760	0.70567	.	.	ENSG00000175121	ENST00000372789;ENST00000307971	T;T	0.49720	0.77;0.77	5.07	5.07	0.68467	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.000000	0.53938	D	0.000053	T	0.79106	0.4390	H	0.97265	3.97	0.22562	N	0.998982	D	0.89917	1.0	D	0.97110	1.0	T	0.76642	-0.2884	10	0.87932	D	0	-30.388	13.962	0.64185	0.0:0.0:1.0:0.0	.	120	Q8TCV5	WFDC5_HUMAN	H	120	ENSP00000361875:P120H;ENSP00000312381:P120H	ENSP00000312381:P120H	P	-	2	0	WFDC5	43172463	0.997000	0.39634	0.127000	0.21898	0.262000	0.26303	4.674000	0.61612	2.363000	0.80096	0.462000	0.41574	CCT		0.612	WFDC5-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000107192.1			T	43739049	G	T	43739049	3	4	189	1	0	0	0	0	1	0	0	0	17359	1000	35	4	20	4	WFDC5	20	43739049	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	23615496	43739049	19286471	83	11812											
SNAI1	6615	broad.mit.edu	37	20	48600840	48600840	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr20:48600840G>T	ENST00000244050.2	+	2	623	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	188	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.A188S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CTGCGGGAAGGCCTTCTCTAG	0.612																																																1	Substitution - Missense(1)	kidney(1)											26	25	25					20																	48600840		2203	4300	6503	SO:0001583	missense	6615			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.562G>T	20.37:g.48600840G>T	ENSP00000244050:p.Ala188Ser		B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290599	0.95546	.	.	ENSG00000124216	ENST00000244050	T	0.08282	3.11	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	N	0.25992	0.78	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04178	-1.0971	10	0.49607	T	0.09	-30.1877	17.7788	0.88517	0.0:0.0:1.0:0.0	.	188	O95863	SNAI1_HUMAN	S	188	ENSP00000244050:A188S	ENSP00000244050:A188S	A	+	1	0	SNAI1	48034247	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.420000	0.97426	2.260000	0.74910	0.563000	0.77884	GCC		0.612	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			T	48600840	G	T	48600840	3	4	189	1	0	0	0	0	1	0	0	0	14832	1203	42	4	568	4	SNAI1	20	48600840	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08	4861791	48600840	14424680	84	11813											
C20orf166	128826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	61167749	61167749	+	Silent	SNP	G	G	A			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr20:61167749G>A	ENST00000370527.3	+	4	998	c.219G>A	c.(217-219)caG>caA	p.Q73Q	C20orf166_ENST00000370523.1_Silent_p.Q55Q|C20orf166_ENST00000370524.2_Silent_p.Q55Q	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166									p.Q73Q(1)		endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			CTCAGCCCCAGCCCCACAGTG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											52	55	54					20																	61167749		2019	4168	6187	SO:0001819	synonymous_variant	128826			AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"MIR133A2 host gene"						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.219G>A	20.37:g.61167749G>A				Silent	SNP	ENST00000370527.3	37	CCDS46627.1																																																																																				0.522	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109262.1	NM_178463		A	61167749	G	A	61167749	2	1	189	1	0	0	0	0	0	0	0	1	2097	962	34	2		2	C20orf166	20	61167749	Silent	SNP	G	TCGA-B0-5106-01A-01D-1421-08	12566909	61167749	1857771	85	11814											
TRIOBP	11078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38130449	38130449	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chr22:38130449G>C	ENST00000406386.3	+	9	4361	c.4106G>C	c.(4105-4107)aGc>aCc	p.S1369T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1369					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.S1369T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCCGGCGGAGCCAAGCAGAG	0.657																																																1	Substitution - Missense(1)	kidney(1)											31	36	34					22																	38130449		1947	4129	6076	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4106G>C	22.37:g.38130449G>C	ENSP00000384312:p.Ser1369Thr		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	7.940	0.742479	0.15642	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.23348	1.91	5.62	4.59	0.56863	.	.	.	.	.	T	0.13628	0.0330	N	0.14661	0.345	0.26340	N	0.977379	B	0.24721	0.11	B	0.17979	0.02	T	0.23619	-1.0183	9	0.19590	T	0.45	.	8.0864	0.30775	0.0838:0.1612:0.7549:0.0	.	1369	Q9H2D6	TARA_HUMAN	T	1369;1330	ENSP00000384312:S1369T	ENSP00000384312:S1369T	S	+	2	0	TRIOBP	36460395	0.940000	0.31905	0.585000	0.28666	0.175000	0.22909	3.824000	0.55723	1.356000	0.45884	0.563000	0.77884	AGC		0.657	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			C	38130449	G	C	38130449	3	2	189	1	0	0	0	0	1	0	0	0	16558	971	34	4	4132	4	TRIOBP	22	38130449	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08		38130449	13174117	86	11815											
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53239905	53239905	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chrX:53239905G>C	ENST00000375401.3	-	11	2068	c.1536C>G	c.(1534-1536)tgC>tgG	p.C512W	KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000452825.3_Missense_Mutation_p.C445W|KDM5C_ENST00000375383.3_Missense_Mutation_p.C471W|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000375379.3_Missense_Mutation_p.C512W|KDM5C_ENST00000404049.3_Missense_Mutation_p.C511W	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	512	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.C512W(1)|p.C445W(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CAATATGCCAGCAAAAGGCTG	0.537			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Missense(2)	kidney(2)											164	105	125					X																	53239905		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1536C>G	X.37:g.53239905G>C	ENSP00000364550:p.Cys512Trp		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853973	0.51270	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.21	3.42	0.39159	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.87281	0.6138	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88300	0.2949	10	0.87932	D	0	-14.6961	9.3654	0.38221	0.1871:0.0:0.8129:0.0	.	445;511;512	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	W	445;512;511;512;471	ENSP00000445176:C445W;ENSP00000364550:C512W;ENSP00000385394:C511W;ENSP00000364528:C512W;ENSP00000364532:C471W	ENSP00000364528:C512W	C	-	3	2	KDM5C	53256630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.454000	0.44979	0.976000	0.38417	0.600000	0.82982	TGC		0.537	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		C	53239905	G	C	53239905	3	2	189	1	0	0	0	0	1	0	0	0	8137	963	34	4	3308	4	KDM5C	23	53239905	Missense_Mutation	SNP	G	TCGA-B0-5106-01A-01D-1421-08		53239905	102030655	87	11816											
KIAA1210	57481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	118222879	118222879	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chrX:118222879T>C	ENST00000402510.2	-	11	2313	c.2314A>G	c.(2314-2316)Agg>Ggg	p.R772G		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	772								p.R596G(1)|p.R772G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCAGGCTTCCTTGAGGACTGA	0.478																																																2	Substitution - Missense(2)	kidney(2)											43	41	41					X																	118222879		1872	4103	5975	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2314A>G	X.37:g.118222879T>C	ENSP00000384670:p.Arg772Gly		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.188|3.188	-0.166407|-0.166407	0.06461|0.06461	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.12147	.|2.71	4.37|4.37	1.18|1.18	0.20946|0.20946	.|.	.|.	.|.	.|.	.|.	T|T	0.04003|0.04003	0.0112|0.0112	N|N	0.01874|0.01874	-0.695|-0.695	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.42965|0.42965	-0.9420|-0.9420	5|9	.|0.22109	.|T	.|0.4	.|.	2.8268|2.8268	0.05487|0.05487	0.2154:0.5147:0.0:0.27|0.2154:0.5147:0.0:0.27	.|.	.|772	.|Q9ULL0	.|K1210_HUMAN	R|G	178|772	.|ENSP00000384670:R772G	.|ENSP00000384670:R772G	K|R	-|-	2|1	0|2	KIAA1210|RP13-347D8.6	118106907|118106907	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-0.157000|-0.157000	0.10085|0.10085	0.119000|0.119000	0.18210|0.18210	-0.385000|-0.385000	0.06624|0.06624	AAG|AGG		0.478	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		C	118222879	T	C	118222879	3	2	189	1	0	0	0	0	1	0	0	0	8216	1608	56	3	2831	3	KIAA1210	23	118222879	Missense_Mutation	SNP	T	TCGA-B0-5106-01A-01D-1421-08	64982974	118222879	37047681	88	11817											
MBNL3	55796	hgsc.bcm.edu	37	X	131525019	131525019	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5106-01A-01D-1421-08	TCGA-B0-5106-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0e28603-7204-416d-ba3d-5377a38f677d	6d436195-d34a-4f6a-83ca-217c4489b212	g.chrX:131525019delA	ENST00000370853.3	-	4	705	c.627delT	c.(625-627)agtfs	p.S209fs	MBNL3_ENST00000370844.1_Frame_Shift_Del_p.S113fs|MBNL3_ENST00000394311.2_Frame_Shift_Del_p.S113fs|MBNL3_ENST00000370857.3_Frame_Shift_Del_p.S209fs|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370839.3_Frame_Shift_Del_p.S209fs|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000538204.1_Frame_Shift_Del_p.S159fs|MBNL3_ENST00000370849.3_Frame_Shift_Del_p.S159fs|MBNL3_ENST00000473364.1_5'UTR	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	209					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					CAGTATTATCACTCGCTTCAA	0.473																																																0													152	120	131					X																	131525019		2203	4300	6503	SO:0001589	frameshift_variant	55796			AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"Zinc fingers, CCCH-type domain containing"	20564	protein-coding gene	gene with protein product		300413	"muscleblind-like 3 (Drosophila)"			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.627delT	X.37:g.131525019delA	ENSP00000359890:p.Ser209fs		Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Frame_Shift_Del	DEL	ENST00000370853.3	37	CCDS14633.1																																																																																				0.473	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		-	131525019	A	-	131525019	7	5	189	1	0	1	0	1	0	0	0	0	9357	156	6	0	518	0	MBNL3	23	131525019	Frame_Shift_Del	DEL	A	TCGA-B0-5106-01A-01D-1421-08	13302140	131525019	23745541	89	11818											
RSPO1	284654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	38079542	38079542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr1:38079542C>T	ENST00000401069.1	-	6	1171	c.459G>A	c.(457-459)tgG>tgA	p.W153*	RSPO1_ENST00000401068.1_Nonsense_Mutation_p.W153*|RSPO1_ENST00000356545.2_Nonsense_Mutation_p.W153*|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Nonsense_Mutation_p.W126*|RSPO1_ENST00000401071.2_Intron	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	153	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.W153*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCACGGAGACCACTCGCTCA	0.622																																					GBM(122;680 2230 27822 42821)											1	Substitution - Nonsense(1)	kidney(1)											55	58	57					1																	38079542		1958	4148	6106	SO:0001587	stop_gained	284654			AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.459G>A	1.37:g.38079542C>T	ENSP00000383847:p.Trp153*		A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Nonsense_Mutation	SNP	ENST00000401069.1	37	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	40	8.155355	0.98680	.	.	ENSG00000169218	ENST00000373059;ENST00000356545;ENST00000401069;ENST00000401068	.	.	.	5.75	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8204	0.85744	0.0:0.8718:0.1282:0.0	.	.	.	.	X	126;153;153;153	.	ENSP00000348944:W153X	W	-	3	0	RSPO1	37852129	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	5.386000	0.66238	2.711000	0.92665	0.655000	0.94253	TGG		0.622	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		T	38079542	C	T	38079542	4	4	190	1	0	0	0	0	0	1	0	0	13715	508	18	2	340	2	RSPO1	1	38079542	Nonsense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08		38079542	211171079	1	11819											
TXNDC12	51060	broad.mit.edu;ucsc.edu	37	1	52492991	52492991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr1:52492991C>A	ENST00000371626.4	-	4	1315	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	TXNDC12_ENST00000471493.1_5'Flank	NM_015913.3	NP_056997.1	O95881	TXD12_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	81					cell redox homeostasis (GO:0045454)	endoplasmic reticulum (GO:0005783)	protein-disulfide reductase (glutathione) activity (GO:0019153)	p.E81*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7					Glutathione(DB00143)	TCTGAAATTTCCGTAGATTCT	0.338																																																1	Substitution - Nonsense(1)	kidney(1)											64	68	67					1																	52492991		2203	4299	6502	SO:0001587	stop_gained	51060			AF131758	CCDS561.1	1p32.3	2011-10-19			ENSG00000117862	ENSG00000117862		"Protein disulfide isomerases"	24626	protein-coding gene	gene with protein product	"endoplasmic reticulum thioredoxin superfamily member, 18 kDa", "anterior gradient homolog 1 (Xenopus laevis)", "protein disulfide isomerase family A, member 16"	609448				8619474, 9110174	Standard	NM_015913		Approved	TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16	uc001cti.4	O95881	OTTHUMG00000008629	ENST00000371626.4:c.241G>T	1.37:g.52492991C>A	ENSP00000360688:p.Glu81*		B3KQS0|Q5T1T4|Q96H50	Nonsense_Mutation	SNP	ENST00000371626.4	37	CCDS561.1	.	.	.	.	.	.	.	.	.	.	C	46	12.403890	0.99664	.	.	ENSG00000117862	ENST00000371626	.	.	.	5.93	5.93	0.95920	.	0.100755	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	18.5271	0.90976	0.0:1.0:0.0:0.0	.	.	.	.	X	81	.	ENSP00000360688:E81X	E	-	1	0	TXNDC12	52265579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.429000	0.73387	2.798000	0.96311	0.655000	0.94253	GAA		0.338	TXNDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023818.1	NM_015913		A	52492991	C	A	52492991	4	1	190	1	0	0	0	0	0	1	0	0	16798	864	30	4	293	4	TXNDC12	1	52492991	Nonsense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08	14413449	52492991	196757630	2	11820											
SPAG17	200162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	118598450	118598450	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr1:118598450T>A	ENST00000336338.5	-	19	2693	c.2628A>T	c.(2626-2628)aaA>aaT	p.K876N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	876						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.K876N(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCTGATGATTTTCTCATTCA	0.313																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											128	130	129					1																	118598450		2203	4296	6499	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2628A>T	1.37:g.118598450T>A	ENSP00000337804:p.Lys876Asn		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.044378	0.36085	.	.	ENSG00000155761	ENST00000336338	T	0.18502	2.21	5.35	-0.899	0.10547	.	0.238912	0.40064	N	0.001196	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39722	-0.9600	10	0.72032	D	0.01	.	3.2481	0.06804	0.2329:0.2714:0.0:0.4957	.	876	Q6Q759	SPG17_HUMAN	N	876	ENSP00000337804:K876N	ENSP00000337804:K876N	K	-	3	2	SPAG17	118399973	0.217000	0.23597	0.054000	0.19295	0.006000	0.05464	0.202000	0.17295	-0.296000	0.08947	0.477000	0.44152	AAA		0.313	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118598450	T	A	118598450	3	1	190	1	0	0	0	0	1	0	0	0	14985	1838	64	5	4163	5	SPAG17	1	118598450	Missense_Mutation	SNP	T	TCGA-B0-5107-01A-01D-1421-08	66105459	118598450	130652171	3	11821											
ECM1	1893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150482475	150482475	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr1:150482475G>A	ENST00000369047.4	+	4	426	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.E128K|ECM1_ENST00000346569.6_Missense_Mutation_p.E101K	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	101					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.E128K(1)|p.E101K(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCTGAAAAGGAAGGTGAGCG	0.587																																					Melanoma(156;1696 2560 11093 19685)											2	Substitution - Missense(2)	kidney(2)											103	102	102					1																	150482475		2203	4300	6503	SO:0001583	missense	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.301G>A	1.37:g.150482475G>A	ENSP00000358043:p.Glu101Lys		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	CCDS953.1	.	.	.	.	.	.	.	.	.	.	G	2.771	-0.255643	0.05829	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.74421	-0.84;-0.84;-0.84	4.48	-2.23	0.06930	.	1.445980	0.04343	N	0.354387	T	0.22666	0.0547	N	0.03324	-0.35	0.09310	N	0.999999	B;B;B;B;B;B	0.10296	0.001;0.003;0.002;0.0;0.0;0.0	B;B;B;B;B;B	0.12837	0.008;0.003;0.004;0.001;0.001;0.002	T	0.05131	-1.0904	10	0.15952	T	0.53	0.1261	5.4049	0.16316	0.4004:0.1859:0.4137:0.0	.	23;30;128;101;101;101	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	K	128;101;101	ENSP00000358045:E128K;ENSP00000358043:E101K;ENSP00000271630:E101K	ENSP00000271630:E101K	E	+	1	0	ECM1	148749099	0.000000	0.05858	0.058000	0.19502	0.105000	0.19272	-1.578000	0.02125	-0.502000	0.06596	-0.391000	0.06502	GAA		0.587	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		A	150482475	G	A	150482475	3	1	190	1	0	0	0	0	1	0	0	0	4899	1175	41	2	315	2	ECM1	1	150482475	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	31884025	150482475	98768146	4	11822											
FCRLA	84824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161677075	161677075	+	Silent	SNP	C	C	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr1:161677075C>A	ENST00000236938.6	+	1	314	c.72C>A	c.(70-72)ctC>ctA	p.L24L	FCRLA_ENST00000546024.1_Silent_p.L24L|FCRLA_ENST00000367953.3_Silent_p.L7L|FCRLA_ENST00000350710.3_Silent_p.L24L|FCRLA_ENST00000367957.2_Silent_p.L24L|FCRLA_ENST00000367959.2_Silent_p.L24L|FCRLA_ENST00000540926.1_Silent_p.L7L|FCRLA_ENST00000367949.2_Silent_p.L24L|FCRLA_ENST00000349527.4_Silent_p.L7L|FCRLA_ENST00000367950.1_5'Flank|FCRLA_ENST00000309691.6_Silent_p.L7L|FCRLA_ENST00000294796.4_Silent_p.L7L|FCRLA_ENST00000540521.1_Silent_p.L24L	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	7					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.L24L(1)|p.L7L(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GCTGTGTCCTCATGGCCTGGG	0.478																																																2	Substitution - coding silent(2)	kidney(2)											143	129	133					1																	161677075		2203	4300	6503	SO:0001819	synonymous_variant	84824			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18504	protein-coding gene	gene with protein product		606891	"Fc receptor-like and mucin-like 1"	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.72C>A	1.37:g.161677075C>A			A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Silent	SNP	ENST00000236938.6	37	CCDS30926.1																																																																																				0.478	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		A	161677075	C	A	161677075	2	1	190	1	0	0	0	0	0	0	0	1	5802	813	29	4		4	FCRLA	1	161677075	Silent	SNP	C	TCGA-B0-5107-01A-01D-1421-08	11194600	161677075	87573546	5	11823											
NVL	4931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	224491542	224491542	+	Silent	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr1:224491542G>A	ENST00000281701.6	-	9	1102	c.843C>T	c.(841-843)ctC>ctT	p.L281L	NVL_ENST00000482491.1_5'UTR|NVL_ENST00000469075.1_Silent_p.L190L|NVL_ENST00000340871.4_Silent_p.L65L|NVL_ENST00000391875.2_Silent_p.L175L|RNU6-1008P_ENST00000384160.1_RNA|NVL_ENST00000361463.3_Silent_p.L175L	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	281						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.L281L(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GCATGTGTATGAGCATCTTGC	0.498																																																1	Substitution - coding silent(1)	kidney(1)											73	68	70					1																	224491542		2203	4300	6503	SO:0001819	synonymous_variant	4931			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"ATPases / AAA-type"	8070	protein-coding gene	gene with protein product	"Nuclear valosin-containing protein-like", "nuclear VCP-like protein"	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.843C>T	1.37:g.224491542G>A			B4DMC4|B4DP98|Q96EM7	Silent	SNP	ENST00000281701.6	37	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439588	0.43326	.	.	ENSG00000143748	ENST00000469968	.	.	.	4.96	-0.979	0.10276	.	.	.	.	.	T	0.60011	0.2236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61505	-0.7049	5	0.66056	D	0.02	-9.3369	7.558	0.27835	0.2524:0.387:0.3607:0.0	.	.	.	.	Y	164	.	ENSP00000419930:H256Y	H	-	1	0	NVL	222558165	0.972000	0.33761	0.283000	0.24790	0.905000	0.53344	0.162000	0.16501	0.146000	0.19002	-0.339000	0.08088	CAT		0.498	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		A	224491542	G	A	224491542	2	1	190	1	0	0	0	0	0	0	0	1	10782	1277	45	2		2	NVL	1	224491542	Silent	SNP	G	TCGA-B0-5107-01A-01D-1421-08	62814467	224491542	24759079	6	11824											
OR2T1	26696	hgsc.bcm.edu;ucsc.edu	37	1	248569296	248569297	+	Start_Codon_Ins	INS	-	-	TGTG			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr1:248569296_248569297insTGTG	ENST00000366474.1	+	0	1_2					NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1							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(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCAGTCTCAATGTGGCAAGAA	0.302																																																0																																										SO:0001582	initiator_codon_variant	26696			U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.2_5dupTGTG	1.37:g.248569297_248569300dupTGTG			Q6IEZ9	Frame_Shift_Ins	INS	ENST00000366474.1	37	CCDS31115.1																																																																																				0.302	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			TGTG	248569297	-	TGTG	248569296	7	5	190	1	0	1	1	0	0	0	0	0	11018	115	4	0	3	0	OR2T1	1	248569296	Start_Codon_Ins	INS	-	TCGA-B0-5107-01A-01D-1421-08	24077754	248569296	681325	7	11825											
CYP26B1	56603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	72359545	72359545	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr2:72359545G>T	ENST00000001146.2	-	6	1553	c.1350C>A	c.(1348-1350)ttC>ttA	p.F450L	CYP26B1_ENST00000412253.1_Missense_Mutation_p.F259L|CYP26B1_ENST00000546307.1_Missense_Mutation_p.F375L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	450					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.F450L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GCACCTTCAGGAACAGCTTGG	0.672																																																1	Substitution - Missense(1)	kidney(1)											51	45	47					2																	72359545		2203	4300	6503	SO:0001583	missense	56603				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1350C>A	2.37:g.72359545G>T	ENSP00000001146:p.Phe450Leu		B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834305	0.32421	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.67865	-0.29;-0.29;-0.29	5.64	5.64	0.86602	.	0.046703	0.85682	D	0.000000	T	0.50017	0.1591	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.24701	0.055;0.03;0.03	T	0.42344	-0.9457	10	0.18710	T	0.47	-15.8291	18.6588	0.91465	0.0:0.0:1.0:0.0	.	375;433;450	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	L	450;259;375	ENSP00000001146:F450L;ENSP00000401465:F259L;ENSP00000443304:F375L	ENSP00000001146:F450L	F	-	3	2	CYP26B1	72213053	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.934000	0.56553	2.837000	0.97791	0.655000	0.94253	TTC		0.672	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		T	72359545	G	T	72359545	3	4	190	1	0	0	0	0	1	0	0	0	4158	1165	41	4	192	4	CYP26B1	2	72359545	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08		72359545	170839828	8	11826											
RANBP2	5903	broad.mit.edu;hgsc.bcm.edu	37	2	109384143	109384143	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr2:109384143A>G	ENST00000283195.6	+	20	7274	c.7148A>G	c.(7147-7149)aAt>aGt	p.N2383S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2383	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.N2383S(4)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTGTGCCAATCACAGAATA	0.353																																																4	Substitution - Missense(4)	endometrium(2)|kidney(2)											106	121	116					2																	109384143		2147	4153	6300	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7148A>G	2.37:g.109384143A>G	ENSP00000283195:p.Asn2383Ser		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.358736	0.61403	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.62498	0.02	5.47	5.47	0.80525	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	D	0.85097	0.5619	H	0.95816	3.725	0.39394	D	0.966465	D	0.76494	0.999	D	0.79784	0.993	D	0.90368	0.4378	9	0.87932	D	0	-38.5236	15.8507	0.78927	1.0:0.0:0.0:0.0	.	2383	P49792	RBP2_HUMAN	S	1407;2383	ENSP00000283195:N2383S	ENSP00000283195:N2383S	N	+	2	0	RANBP2	108750575	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.261000	0.95576	2.209000	0.71365	0.254000	0.18369	AAT		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109384143	A	G	109384143	3	3	190	1	0	0	0	0	1	0	0	0	13034	101	4	3	7226	3	RANBP2	2	109384143	Missense_Mutation	SNP	A	TCGA-B0-5107-01A-01D-1421-08	37024598	109384143	133815230	9	11827											
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152352797	152352797	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr2:152352797A>G	ENST00000172853.10	-	140	19058	c.18911T>C	c.(18910-18912)aTt>aCt	p.I6304T	NEB_ENST00000427231.2_Missense_Mutation_p.I8160T|NEB_ENST00000603639.1_Missense_Mutation_p.I8160T|NEB_ENST00000409198.1_Missense_Mutation_p.I6304T|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.I8160T|NEB_ENST00000604864.1_Missense_Mutation_p.I8160T|NEB_ENST00000509223.2_Missense_Mutation_p.I104T|NEB_ENST00000498015.2_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.I135T			P20929	NEBU_HUMAN	nebulin	6304					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.I8160T(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACCGAGCTAATATTTTCTTG	0.338																																																1	Substitution - Missense(1)	kidney(1)											96	76	82					2																	152352797		1818	4078	5896	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18911T>C	2.37:g.152352797A>G	ENSP00000172853:p.Ile6304Thr		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	A	15.65	2.894845	0.52121	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.0	5.0	0.66597	.	.	.	.	.	T	0.72669	0.3489	M	0.88775	2.98	0.44149	D	0.996941	B;B;P;B;B;D	0.61080	0.433;0.084;0.464;0.123;0.047;0.989	B;B;B;B;B;D	0.72625	0.297;0.061;0.297;0.155;0.037;0.978	T	0.78819	-0.2054	9	0.66056	D	0.02	.	14.6987	0.69142	1.0:0.0:0.0:0.0	.	104;135;104;6304;2704;8160	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.;.;.;NEBU_HUMAN;.;.	T	6304;8160;8160;2704;6304;135;104	ENSP00000386259:I6304T;ENSP00000380505:I8160T;ENSP00000416578:I8160T;ENSP00000410961:I2704T;ENSP00000172853:I6304T;ENSP00000380497:I135T;ENSP00000427083:I104T	ENSP00000172853:I6304T	I	-	2	0	NEB	152061043	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	5.411000	0.66386	2.010000	0.58986	0.533000	0.62120	ATT		0.338	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		G	152352797	A	G	152352797	3	3	190	1	0	0	0	0	1	0	0	0	10304	101	4	3	1138	3	NEB	2	152352797	Missense_Mutation	SNP	A	TCGA-B0-5107-01A-01D-1421-08	42968654	152352797	90846576	10	11828											
CHL1	10752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	443351	443351	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr3:443351C>T	ENST00000256509.2	+	27	4070	c.3428C>T	c.(3427-3429)tCa>tTa	p.S1143L	CHL1_ENST00000397491.2_Missense_Mutation_p.S1127L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.S1143L(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAAATTCAGTCAGTAAAAGAT	0.303																																																1	Substitution - Missense(1)	kidney(1)											91	95	94					3																	443351		2203	4300	6503	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3428C>T	3.37:g.443351C>T	ENSP00000256509:p.Ser1143Leu		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.98|19.98	3.927647|3.927647	0.73327|0.73327	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000445697|ENST00000256509;ENST00000397491	.|D;D	.|0.85861	.|-2.04;-2.04	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.175393	.|0.40469	.|N	.|0.001086	.|D	.|0.85182	.|0.5638	L|L	0.33485|0.33485	1.01|1.01	0.39587|0.39587	D|D	0.969522|0.969522	.|P;P	.|0.47034	.|0.845;0.889	.|P;P	.|0.51135	.|0.642;0.66	.|D	.|0.85889	.|0.1427	.|10	.|0.42905	.|T	.|0.14	.|.	18.7377|18.7377	0.91761|0.91761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1127;1143	.|O00533;O00533-2	.|CHL1_HUMAN;.	X|L	277|1143;1127	.|ENSP00000256509:S1143L;ENSP00000380628:S1127L	.|ENSP00000256509:S1143L	Q|S	+|+	1|2	0|0	CHL1|CHL1	418351|418351	1.000000|1.000000	0.71417|0.71417	0.824000|0.824000	0.32777|0.32777	0.990000|0.990000	0.78478|0.78478	2.705000|2.705000	0.47127|0.47127	2.417000|2.417000	0.82017|0.82017	0.585000|0.585000	0.79938|0.79938	CAG|TCA		0.303	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		T	443351	C	T	443351	3	4	190	1	0	0	0	0	1	0	0	0	3351	838	29	2	3526	2	CHL1	3	443351	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08		443351	197579079	11	11829											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10183794	10183794	+	Missense_Mutation	SNP	G	G	T	rs119103277		TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr3:10183794G>T	ENST00000256474.2	+	1	1103	c.263G>T	c.(262-264)tGg>tTg	p.W88L	VHL_ENST00000345392.2_Missense_Mutation_p.W88L|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	88			W -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|W -> S (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W88*(6)|p.W88L(3)|p.W88fs*71(3)|p.V87_W88del(2)|p.W88S(2)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGCCCGTATGGCTCAACTTC	0.726		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	19	Substitution - Nonsense(6)|Substitution - Missense(5)|Deletion - Frameshift(5)|Deletion - In frame(2)|Complex - deletion inframe(1)	kidney(17)|endometrium(1)|soft_tissue(1)	GRCh37	CM951277|HX971376	VHL	M|X	rs119103277						13	16	15					3																	10183794		2111	4166	6277	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.263G>T	3.37:g.10183794G>T	ENSP00000256474:p.Trp88Leu		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190572	0.94923	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99961	-9.37;-9.37	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	M	0.84773	2.715	0.41389	D	0.987602	D;D	0.76494	0.996;0.999	D;D	0.78314	0.991;0.975	D	0.94955	0.8103	10	0.59425	D	0.04	-1.5857	16.0203	0.80478	0.0:0.0:1.0:0.0	.	88;88	P40337-2;P40337	.;VHL_HUMAN	L	88	ENSP00000256474:W88L;ENSP00000344757:W88L	ENSP00000256474:W88L	W	+	2	0	VHL	10158794	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	5.961000	0.70356	2.368000	0.80403	0.479000	0.44913	TGG		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183794	G	T	10183794	3	4	190	1	0	0	0	0	1	0	0	0	17167	1357	47	4	265	4	VHL	3	10183794	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	9740443	10183794	187838636	12	11830											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu	37	3	52442512	52442512	+	5'Flank	SNP	T	T	C			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr3:52442512T>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000296288.5_Missense_Mutation_p.N78S|BAP1_ENST00000460680.1_Missense_Mutation_p.N78S	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.N78S(2)|p.I72fs*7(1)|p.I76fs*45(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GAACATGTTATTCACAATATC	0.488																																																4	Substitution - Missense(2)|Deletion - Frameshift(2)	kidney(2)|eye(1)|pleura(1)											63	53	56					3																	52442512		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442512T>C	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931031	0.73327	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.090448	0.85682	D	0.000000	T	0.41926	0.1180	N	0.25031	0.7	0.80722	D	1	P	0.41978	0.767	P	0.49361	0.608	T	0.30909	-0.9962	10	0.42905	T	0.14	-2.8537	15.6492	0.77078	0.0:0.0:0.0:1.0	.	78	Q92560	BAP1_HUMAN	S	78	ENSP00000417132:N78S;ENSP00000296288:N78S	ENSP00000296288:N78S	N	-	2	0	BAP1	52417552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	2.106000	0.64143	0.533000	0.62120	AAT		0.488	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		C	52442512	T	C	52442512	1	2	190	0	1	0	0	0	0	0	0	0	1311	1493	52	3		3	BAP1	3	52442512	5'Flank	SNP	T	TCGA-B0-5107-01A-01D-1421-08	42258718	52442512	145579918	13	11831											
PBRM1	55193	hgsc.bcm.edu	37	3	52676063	52676063	+	Splice_Site	SNP	T	T	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr3:52676063T>A	ENST00000296302.7	-	10	997		c.e10-2		PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTTTATTACTACAAAAAAAA	0.343			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													122	118	119					3																	52676063		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.996-2A>T	3.37:g.52676063T>A			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	22.2	4.254422	0.80135	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9893	0.80188	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52651103	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.357000	0.79456	2.181000	0.69327	0.528000	0.53228	.		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	A	52676063	T	A	52676063	5	1	190	1	0	0	0	0	0	0	1	0	11493	1536	53	5	3990	5	PBRM1	3	52676063	Splice_Site	SNP	T	TCGA-B0-5107-01A-01D-1421-08	233551	52676063	145346367	14	11832											
ATR	545	hgsc.bcm.edu;ucsc.edu	37	3	142266605	142266605	+	Frame_Shift_Del	DEL	A	A	-	rs368676027		TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr3:142266605delA	ENST00000350721.4	-	16	3440	c.3319delT	c.(3319-3321)tatfs	p.Y1107fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.Y1043fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1107					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGGCCCTGATATGGATCATCA	0.358								Other conserved DNA damage response genes																																								0													114	105	108					3																	142266605		2203	4300	6503	SO:0001589	frameshift_variant	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3319delT	3.37:g.142266605delA	ENSP00000343741:p.Tyr1107fs		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	ENST00000350721.4	37	CCDS3124.1																																																																																				0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		-	142266605	A	-	142266605	7	5	190	1	0	1	0	1	0	0	0	0	1204	449	16	0	4743	0	ATR	3	142266605	Frame_Shift_Del	DEL	A	TCGA-B0-5107-01A-01D-1421-08	89590542	142266605	55755825	15	11833											
FGFBP1	9982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	15938034	15938034	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr4:15938034C>A	ENST00000382333.1	-	3	516	c.222G>T	c.(220-222)gaG>gaT	p.E74D	FGFBP1_ENST00000259988.2_Missense_Mutation_p.E74D	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	74					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.E74D(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CCTCCTCCTGCTCAGTAGCAG	0.507																																																1	Substitution - Missense(1)	kidney(1)											146	137	140					4																	15938034		2203	4300	6503	SO:0001583	missense	9982			M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.222G>T	4.37:g.15938034C>A	ENSP00000371770:p.Glu74Asp		A8K5J2	Missense_Mutation	SNP	ENST00000382333.1	37	CCDS3418.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629171	0.67015	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.15372	2.43;2.43	5.71	2.03	0.26663	.	0.734122	0.12778	N	0.439876	T	0.25975	0.0633	L	0.52011	1.625	0.09310	N	1	D	0.61697	0.99	P	0.60949	0.881	T	0.09487	-1.0672	10	0.36615	T	0.2	5.2489	4.7834	0.13213	0.1458:0.557:0.0:0.2972	.	74	Q14512	FGFP1_HUMAN	D	74	ENSP00000371770:E74D;ENSP00000259988:E74D	ENSP00000259988:E74D	E	-	3	2	FGFBP1	15547132	0.005000	0.15991	0.009000	0.14445	0.964000	0.63967	0.167000	0.16602	0.343000	0.23821	-0.234000	0.12200	GAG		0.507	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130		A	15938034	C	A	15938034	3	1	190	1	0	0	0	0	1	0	0	0	5862	796	28	4	486	4	FGFBP1	4	15938034	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08		15938034	175216242	16	11834											
JMY	133746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	78608277	78608277	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr5:78608277C>A	ENST00000396137.4	+	8	2482	c.2020C>A	c.(2020-2022)Caa>Aaa	p.Q674K	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	674					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q320K(1)|p.Q674K(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTGGGTTAGCCAAGAGAGACA	0.294																																																2	Substitution - Missense(2)	kidney(2)											104	106	105					5																	78608277		1800	4080	5880	SO:0001583	missense	133746			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2020C>A	5.37:g.78608277C>A	ENSP00000379441:p.Gln674Lys		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865656	0.91511	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.07327	3.2	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	M	0.79123	2.44	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.03852	-1.0998	10	0.62326	D	0.03	.	18.8472	0.92212	0.0:1.0:0.0:0.0	.	674	Q8N9B5	JMY_HUMAN	K	674	ENSP00000379441:Q674K	ENSP00000282259:Q674K	Q	+	1	0	JMY	78644033	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.659000	0.74412	2.447000	0.82792	0.655000	0.94253	CAA		0.294	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		A	78608277	C	A	78608277	3	1	190	1	0	0	0	0	1	0	0	0	7959	595	21	4	2050	4	JMY	5	78608277	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08		78608277	102306983	17	11835											
GPX6	257202	hgsc.bcm.edu;ucsc.edu	37	6	28483478	28483478	+	Frame_Shift_Del	DEL	G	G	-	rs559264173		TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr6:28483478delG	ENST00000474923.1	-	1	86	c.43delC	c.(43-45)ctgfs	p.L15fs	GPX6_ENST00000483058.1_Intron|GPX6_ENST00000361902.1_Frame_Shift_Del_p.L15fs			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	15					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AAGCCAACCAGGAAAAACAGG	0.542																																																0													87	100	96					6																	28483478		1975	4159	6134	SO:0001589	frameshift_variant	257202				CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"glutathione peroxidase pseudogene 3"	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.43delC	6.37:g.28483478delG	ENSP00000417364:p.Leu15fs		Q4PJ17	Frame_Shift_Del	DEL	ENST00000474923.1	37																																																																																					0.542	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5			-	28483478	G	-	28483478	7	5	190	1	0	1	0	1	0	0	0	0	6746	991	35	0	642	0	GPX6	6	28483478	Frame_Shift_Del	DEL	G	TCGA-B0-5107-01A-01D-1421-08		28483478	142631589	18	11836											
BAT2	7916	broad.mit.edu;hgsc.bcm.edu	37	6	31599655	31599655	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr6:31599655G>A	ENST00000376033.2	+	16	3439	c.3205G>A	c.(3205-3207)Ggg>Agg	p.G1069R	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G1069R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1069	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G1069R(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCGTGGAGGTGGGACAGGGGG	0.657																																																1	Substitution - Missense(1)	kidney(1)											22	19	20					6																	31599655		1507	2707	4214	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3205G>A	6.37:g.31599655G>A	ENSP00000365201:p.Gly1069Arg		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	8.736	0.917801	0.17982	.	.	ENSG00000204469	ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01705	4.68;4.68	5.04	3.22	0.36961	.	0.269330	0.26995	N	0.021455	T	0.00637	0.0021	L	0.39898	1.24	0.30200	N	0.798682	B	0.10296	0.003	B	0.09377	0.004	T	0.47598	-0.9105	10	0.87932	D	0	-3.1063	4.2837	0.10844	0.2533:0.1728:0.5739:0.0	.	1069	P48634	PRC2A_HUMAN	R	1069;1069;294	ENSP00000365175:G1069R;ENSP00000365201:G1069R	ENSP00000365175:G1069R	G	+	1	0	PRRC2A	31707634	0.848000	0.29623	0.723000	0.30687	0.763000	0.43281	2.086000	0.41643	0.699000	0.31761	0.655000	0.94253	GGG		0.657	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		A	31599655	G	A	31599655	3	1	190	1	0	0	0	0	1	0	0	0	1319	1348	47	2	3263	2	BAT2	6	31599655	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	3116177	31599655	139515412	19	11837											
C6orf35	729515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	157744466	157744466	+	Silent	SNP	A	A	G			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr6:157744466A>G	ENST00000400788.4	-	1	167	c.66T>C	c.(64-66)aaT>aaC	p.N22N	RP5-933K21.3_ENST00000603032.1_lincRNA|TMEM242_ENST00000367144.4_Silent_p.N22N	NM_018452.4	NP_060922.2	Q9NWH2	TM242_HUMAN	transmembrane protein 242	22						integral component of membrane (GO:0016021)		p.N22N(1)									AAAGCCGGTCATTCGTGGACC	0.637																																																1	Substitution - coding silent(1)	kidney(1)											116	130	125					6																	157744466		1938	4135	6073	SO:0001819	synonymous_variant	0			AF217510	CCDS43519.1	6q25.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000215712	ENSG00000215712			17206	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 35"	C6orf35			Standard	NM_018452		Approved	BM033	uc003sih.4	Q9NWH2	OTTHUMG00000015893	ENST00000400788.4:c.66T>C	6.37:g.157744466A>G			B9EJD0|Q9NZ88|Q9P094	Silent	SNP	ENST00000400788.4	37	CCDS43519.1																																																																																				0.637	TMEM242-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042837.2			G	157744466	A	G	157744466	2	3	190	1	0	0	0	0	0	0	0	1	2365	214	8	3		3	C6orf35	6	157744466	Silent	SNP	A	TCGA-B0-5107-01A-01D-1421-08	126144811	157744466	13370601	20	11838											
SUN1	23353	broad.mit.edu;ucsc.edu	37	7	912892	912892	+	Missense_Mutation	SNP	G	G	A	rs199515429	byFrequency	TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr7:912892G>A	ENST00000405266.1	+	20	2417	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q	SUN1_ENST00000389574.3_Missense_Mutation_p.R678Q|SUN1_ENST00000452783.2_Missense_Mutation_p.R658Q|SUN1_ENST00000425407.2_Missense_Mutation_p.R678Q|SUN1_ENST00000413514.2_Missense_Mutation_p.R559Q|SUN1_ENST00000456758.2_Missense_Mutation_p.R950Q|SUN1_ENST00000401592.1_Missense_Mutation_p.R761Q			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	788	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.R678Q(1)|p.R761Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGAACTTCGGATTTTTTCT	0.408											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	4	0.000798722	0.0	0.0	5008	,	,		20042	0.0		0.001	False		,,,				2504	0.0031															2	Substitution - Missense(2)	kidney(2)						G	GLN/ARG,GLN/ARG,GLN/ARG	0,3658		0,0,1829	170	159	162		2282,1973,2033	4.7	1	7		162	2,8182		0,2,4090	yes	missense,missense,missense	SUN1	NM_001130965.2,NM_001171944.1,NM_025154.5	43,43,43	0,2,5919	AA,AG,GG		0.0244,0.0,0.0169	probably-damaging,probably-damaging,probably-damaging	761/786,658/683,678/703	912892	2,11840	1829	4092	5921	SO:0001583	missense	23353			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.2393G>A	7.37:g.912892G>A	ENSP00000384116:p.Arg798Gln	591	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37		.	.	.	.	.	.	.	.	.	.	G	32	5.183280	0.94885	0.0	2.44E-4	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.6	4.72	0.59763	Sad1/UNC-like, C-terminal (2);	0.171178	0.51477	N	0.000089	T	0.58452	0.2123	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D;D	0.89917	0.977;0.978;1.0;0.988;1.0;0.973	P;P;D;P;D;B	0.85130	0.697;0.451;0.987;0.765;0.997;0.406	T	0.60929	-0.7165	10	0.62326	D	0.03	-45.9846	14.2249	0.65853	0.0721:0.0:0.9279:0.0	.	559;658;761;950;788;678	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.;.;.;.;SUN1_HUMAN;.	Q	950;678;658;798;761;788;678;686;559	ENSP00000388743:R950Q;ENSP00000374225:R678Q;ENSP00000413439:R658Q;ENSP00000384116:R798Q;ENSP00000384015:R761Q;ENSP00000392309:R678Q;ENSP00000409909:R686Q;ENSP00000389313:R559Q	ENSP00000297445:R788Q	R	+	2	0	SUN1	879418	1.000000	0.71417	0.990000	0.47175	0.932000	0.56968	6.415000	0.73328	1.363000	0.46019	0.563000	0.77884	CGG		0.408	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		A	912892	G	A	912892	3	1	190	1	0	0	0	0	1	0	0	0	15396	1116	39	1	2539	1	SUN1	7	912892	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08		912892	158225771	21	11839											
ADAP1	11033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	939073	939073	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr7:939073A>C	ENST00000265846.5	-	9	1069	c.850T>G	c.(850-852)Tac>Gac	p.Y284D	ADAP1_ENST00000539900.1_Missense_Mutation_p.Y295D|ADAP1_ENST00000449296.2_Missense_Mutation_p.Y212D	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	284	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.Y284D(1)		endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						TCTTTGAAGTACATGAGCCTG	0.662																																																1	Substitution - Missense(1)	kidney(1)											70	57	62					7																	939073		2203	4299	6502	SO:0001583	missense	11033			AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16486	protein-coding gene	gene with protein product		608114	"centaurin, alpha 1"	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.850T>G	7.37:g.939073A>C	ENSP00000265846:p.Tyr284Asp		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	ENST00000265846.5	37	CCDS5318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	16.14|16.14	3.038262|3.038262	0.54896|0.54896	.|.	.|.	ENSG00000105963|ENSG00000105963	ENST00000446141|ENST00000265846;ENST00000449296;ENST00000449929;ENST00000538188;ENST00000539900;ENST00000453175	.|T;T;T	.|0.37752	.|1.18;1.18;1.18	4.4|4.4	4.4|4.4	0.53042|0.53042	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.063724	.|0.64402	.|D	.|0.000004	T|T	0.67439|0.67439	0.2893|0.2893	M|M	0.92169|0.92169	3.28|3.28	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.76537|0.76537	-0.2923|-0.2923	5|10	.|0.87932	.|D	.|0	-25.7198|-25.7198	13.2599|13.2599	0.60098|0.60098	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|189;284	.|B4DUZ7;O75689	.|.;ADAP1_HUMAN	W|D	266|284;212;110;170;295;149	.|ENSP00000265846:Y284D;ENSP00000407267:Y212D;ENSP00000442682:Y295D	.|ENSP00000265846:Y284D	C|Y	-|-	3|1	2|0	ADAP1|ADAP1	905599|905599	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.303000|0.303000	0.27691|0.27691	5.759000|5.759000	0.68785|0.68785	1.611000|1.611000	0.50210|0.50210	0.454000|0.454000	0.30748|0.30748	TGT|TAC		0.662	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869		C	939073	A	C	939073	3	2	190	1	0	0	0	0	1	0	0	0	279	391	14	5	286	5	ADAP1	7	939073	Missense_Mutation	SNP	A	TCGA-B0-5107-01A-01D-1421-08	26181	939073	158199590	22	11840											
ANLN	54443	broad.mit.edu	37	7	36478858	36478858	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr7:36478858A>C	ENST00000265748.2	+	21	3150	c.2929A>C	c.(2929-2931)Aaa>Caa	p.K977Q	ANLN_ENST00000396068.2_Missense_Mutation_p.K940Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	977	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.K977Q(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						tttaaaaataaaatGTCAAGT	0.303																																																1	Substitution - Missense(1)	kidney(1)											76	77	76					7																	36478858		2200	4297	6497	SO:0001583	missense	54443			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2929A>C	7.37:g.36478858A>C	ENSP00000265748:p.Lys977Gln		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	11.76|11.76|11.76	1.735488|1.735488|1.735488	0.30774|0.30774|0.30774	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000265748;ENST00000396068|ENST00000428612|ENST00000457743	T;T|.|.	0.12361|.|.	2.69;2.7|.|.	5.22|5.22|5.22	5.22|5.22|5.22	0.72569|0.72569|0.72569	Pleckstrin homology-type (1);|.|.	0.198017|0.198017|.	0.52532|0.52532|.	D|D|.	0.000064|0.000064|.	T|T|.	0.43765|0.43765|.	0.1262|0.1262|.	N|N|N	0.16307|0.16307|0.16307	0.4|0.4|0.4	0.39746|0.39746|0.39746	D|D|D	0.971814|0.971814|0.971814	P;B;B;B|.|.	0.48089|.|.	0.905;0.027;0.045;0.058|.|.	P;B;B;B|.|.	0.46758|.|.	0.526;0.012;0.028;0.012|.|.	T|T|.	0.41106|0.41106|.	-0.9527|-0.9527|.	10|6|.	0.26408|.|.	T|.|.	0.33|.|.	-1.3396|-1.3396|-1.3396	14.2117|14.2117|14.2117	0.65769|0.65769|0.65769	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	854;939;940;977|.|.	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6|.|.	.;.;.;ANLN_HUMAN|.|.	Q|T|Y	977;940|141|198	ENSP00000265748:K977Q;ENSP00000379380:K940Q|.|.	ENSP00000265748:K977Q|.|.	K|K|X	+|+|+	1|2|3	0|0|2	ANLN|ANLN|ANLN	36445383|36445383|36445383	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	3.760000|3.760000|3.760000	0.55235|0.55235|0.55235	2.084000|2.084000|2.084000	0.62774|0.62774|0.62774	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AAA|AAA|TAA		0.303	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		C	36478858	A	C	36478858	3	2	190	1	0	0	0	0	1	0	0	0	694	15	1	5	3011	5	ANLN	7	36478858	Missense_Mutation	SNP	A	TCGA-B0-5107-01A-01D-1421-08	35539785	36478858	122659805	23	11841											
CUX1	1523	hgsc.bcm.edu;ucsc.edu	37	7	101845357	101845358	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr7:101845357_101845358insC	ENST00000292535.7	+	18	2818_2819	c.2780_2781insC	c.(2779-2784)gtccccfs	p.VP927fs	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Frame_Shift_Ins_p.VP938fs|CUX1_ENST00000549414.2_Frame_Shift_Ins_p.VP905fs|CUX1_ENST00000550008.2_Frame_Shift_Ins_p.VP871fs|CUX1_ENST00000546411.2_Frame_Shift_Ins_p.VP825fs|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Frame_Shift_Ins_p.VP769fs	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	927					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGCCCTCGGTCCCCCCGCTGA	0.644																																																0																																										SO:0001589	frameshift_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2786dupC	7.37:g.101845363_101845363dupC	ENSP00000292535:p.Val927fs		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Frame_Shift_Ins	INS	ENST00000292535.7	37	CCDS5721.1																																																																																				0.644	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		C	101845358	-	C	101845357	7	5	190	1	0	1	1	0	0	0	0	0	4066	1667	58	0	2917	0	CUX1	7	101845357	Frame_Shift_Ins	INS	-	TCGA-B0-5107-01A-01D-1421-08	65366499	101845357	57293306	24	11842											
NRF1	4899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129297261	129297261	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr7:129297261G>A	ENST00000393232.1	+	2	187	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	NRF1_ENST00000393231.3_Missense_Mutation_p.V24M|NRF1_ENST00000539636.1_5'UTR|NRF1_ENST00000223190.4_Missense_Mutation_p.V24M|NRF1_ENST00000311967.2_Missense_Mutation_p.V24M|NRF1_ENST00000353868.4_Missense_Mutation_p.V24M|NRF1_ENST00000393230.2_Missense_Mutation_p.V24M	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	24	Dimerization.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.V24M(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GGCCCAGCAAGTGCAGCAGGT	0.493																																																1	Substitution - Missense(1)	kidney(1)											123	111	115					7																	129297261		2203	4300	6503	SO:0001583	missense	4899			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.70G>A	7.37:g.129297261G>A	ENSP00000376924:p.Val24Met		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781580	0.90282	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000454688;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	N	0.08118	0	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.70487	0.969;0.969	T	0.67979	-0.5530	9	0.56958	D	0.05	-22.9168	18.4511	0.90704	0.0:0.0:1.0:0.0	.	24;24	Q96AN2;Q16656	.;NRF1_HUMAN	M	24	.	ENSP00000223190:V24M	V	+	1	0	NRF1	129084497	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.825000	0.75293	2.617000	0.88574	0.585000	0.79938	GTG		0.493	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		A	129297261	G	A	129297261	3	1	190	1	0	0	0	0	1	0	0	0	10648	1029	36	2	72	2	NRF1	7	129297261	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	27451904	129297261	29841402	25	11843											
PRKDC	5591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	48694798	48694798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr8:48694798C>T	ENST00000314191.2	-	81	11467	c.11411G>A	c.(11410-11412)tGg>tAg	p.W3804*	PRKDC_ENST00000338368.3_Intron|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3805	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.W3805*(1)|p.W3804*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATTTTCAAGCCACTCAATTAA	0.473								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											2	Substitution - Nonsense(2)	kidney(2)											71	72	72					8																	48694798		1921	4128	6049	SO:0001587	stop_gained	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11411G>A	8.37:g.48694798C>T	ENSP00000313420:p.Trp3804*		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	52	19.908571	0.99925	.	.	ENSG00000253729	ENST00000314191	.	.	.	4.94	4.06	0.47325	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3912	0.60825	0.0:0.9237:0.0:0.0763	.	.	.	.	X	3804	.	ENSP00000313420:W3804X	W	-	2	0	PRKDC	48857351	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.083000	0.64456	1.216000	0.43427	0.655000	0.94253	TGG		0.473	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		T	48694798	C	T	48694798	4	4	190	1	0	0	0	0	0	1	0	0	12526	595	21	2	1000	2	PRKDC	8	48694798	Nonsense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08		48694798	97669224	26	11844											
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106813890	106813890	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr8:106813890G>A	ENST00000407775.2	+	8	1830	c.1580G>A	c.(1579-1581)cGa>cAa	p.R527Q	ZFPM2_ENST00000378472.4_Missense_Mutation_p.R258Q|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R395Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R395Q	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	527					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R527Q(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTGCATCGGCGACTGAGGCAT	0.473																																																1	Substitution - Missense(1)	kidney(1)											92	94	93					8																	106813890		1938	4128	6066	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1580G>A	8.37:g.106813890G>A	ENSP00000384179:p.Arg527Gln		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017101	0.93404	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.36699	1.24;1.77;1.77;2.98	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.55398	-0.8147	10	0.48119	T	0.1	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	527	Q8WW38	FOG2_HUMAN	Q	527;395;395;258	ENSP00000384179:R527Q;ENSP00000430757:R395Q;ENSP00000428720:R395Q;ENSP00000367733:R258Q	ENSP00000367733:R258Q	R	+	2	0	ZFPM2	106883066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGA		0.473	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			A	106813890	G	A	106813890	3	1	190	1	0	0	0	0	1	0	0	0	17663	1058	37	1	1610	1	ZFPM2	8	106813890	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	58119092	106813890	39550132	27	11845											
SMARCA2	6595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2116050	2116050	+	Splice_Site	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr9:2116050G>A	ENST00000382203.1	+	25	3893		c.e25+1		SMARCA2_ENST00000382194.1_Splice_Site|SMARCA2_ENST00000349721.2_Splice_Site|SMARCA2_ENST00000357248.2_Splice_Site			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2						aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGAAAATGAGGTATTAGAGAA	0.463											OREG0019074	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Unknown(2)	kidney(2)											26	29	28					9																	2116050		2203	4300	6503	SO:0001630	splice_region_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3684+1G>A	9.37:g.2116050G>A		601	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Splice_Site	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658359	0.88154	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCA2	2106050	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.869000	0.99810	2.756000	0.94617	0.563000	0.77884	.		0.463	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	Intron	A	2116050	G	A	2116050	5	1	190	1	0	0	0	0	0	0	1	0	14775	1275	44	2	3779	2	SMARCA2	9	2116050	Splice_Site	SNP	G	TCGA-B0-5107-01A-01D-1421-08		2116050	139097381	28	11846											
TLR4	7099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	120475390	120475390	+	Silent	SNP	T	T	C			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr9:120475390T>C	ENST00000355622.6	+	3	1085	c.984T>C	c.(982-984)taT>taC	p.Y328Y	TLR4_ENST00000394487.4_Silent_p.Y288Y|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	328					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y328Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACTTTTCTTATAATTTCGGAT	0.323																																																1	Substitution - coding silent(1)	kidney(1)											61	69	66					9																	120475390		2203	4299	6502	SO:0001819	synonymous_variant	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.984T>C	9.37:g.120475390T>C			A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	CCDS6818.1																																																																																				0.323	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		C	120475390	T	C	120475390	2	2	190	1	0	0	0	0	0	0	0	1	15958	1413	49	3		3	TLR4	9	120475390	Silent	SNP	T	TCGA-B0-5107-01A-01D-1421-08	118359340	120475390	20738041	29	11847											
RABGAP1	23637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125865394	125865394	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr9:125865394G>A	ENST00000373647.4	+	26	3246	c.3112G>A	c.(3112-3114)Gcc>Acc	p.A1038T	RABGAP1_ENST00000373643.5_Missense_Mutation_p.A377T	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1038					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.A1038T(1)|p.A966T(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TTTAGGGCTTGCCCTCAATGA	0.527											OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(2)											105	88	94					9																	125865394		2203	4300	6503	SO:0001583	missense	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.3112G>A	9.37:g.125865394G>A	ENSP00000362751:p.Ala1038Thr	1545	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257758	0.22965	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.17054	3.42;2.3	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.12092	0.0294	N	0.17872	0.535	0.80722	D	1	B	0.25441	0.126	B	0.18263	0.021	T	0.13335	-1.0513	10	0.11794	T	0.64	-5.9797	19.0066	0.92854	0.0:0.0:1.0:0.0	.	1038	Q9Y3P9	RBGP1_HUMAN	T	1038;377	ENSP00000362751:A1038T;ENSP00000362747:A377T	ENSP00000362747:A377T	A	+	1	0	RABGAP1	124905215	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.263000	0.95617	2.718000	0.92993	0.650000	0.86243	GCC		0.527	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		A	125865394	G	A	125865394	3	1	190	1	0	0	0	0	1	0	0	0	12970	1319	46	2	3210	2	RABGAP1	9	125865394	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	5390004	125865394	15348037	30	11848											
WDR37	22884	broad.mit.edu;hgsc.bcm.edu	37	10	1149775	1149775	+	Splice_Site	SNP	A	A	C			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr10:1149775A>C	ENST00000358220.1	+	10	1104	c.960A>C	c.(958-960)acA>acC	p.T320T	WDR37_ENST00000263150.4_Splice_Site_p.T320T			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	320								p.T320T(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		ACTCTCTGACAGGTGCCTGGG	0.577																																																1	Substitution - coding silent(1)	kidney(1)											37	30	32					10																	1149775		2203	4300	6503	SO:0001630	splice_region_variant	22884			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.961+1A>C	10.37:g.1149775A>C			A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Silent	SNP	ENST00000358220.1	37	CCDS7057.1																																																																																				0.577	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023	Silent	C	1149775	A	C	1149775	5	2	190	1	0	0	0	0	0	0	1	0	17296	202	7	5	994	5	WDR37	10	1149775	Splice_Site	SNP	A	TCGA-B0-5107-01A-01D-1421-08		1149775	134384972	31	11849											
CUZD1	50624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	124593448	124593448	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr10:124593448C>T	ENST00000368904.1	-	10	2340	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	CUZD1_ENST00000392790.1_Missense_Mutation_p.R464Q|CUZD1_ENST00000545804.1_Missense_Mutation_p.R464Q					CUB and zona pellucida-like domains 1									p.R464Q(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AGTTTCATCTCGACTACATCT	0.353																																																1	Substitution - Missense(1)	kidney(1)											77	78	78					10																	124593448		2203	4300	6503	SO:0001583	missense	50624			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1391G>A	10.37:g.124593448C>T	ENSP00000357900:p.Arg464Gln			Missense_Mutation	SNP	ENST00000368904.1	37	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.086979	0.36855	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.81996	-1.56;-1.56;-1.56	5.37	-2.32	0.06745	Zona pellucida sperm-binding protein (3);	1.151220	0.06275	N	0.696401	T	0.65575	0.2704	N	0.11201	0.11	0.09310	N	1	B	0.21309	0.054	B	0.09377	0.004	T	0.48175	-0.9058	10	0.15066	T	0.55	-0.0259	11.2916	0.49254	0.0:0.2723:0.0:0.7277	.	464	Q86UP6	CUZD1_HUMAN	Q	464;183;183;98;183;464;464	ENSP00000357900:R464Q;ENSP00000441590:R464Q;ENSP00000376540:R464Q	ENSP00000340905:R98Q	R	-	2	0	CUZD1	124583438	0.000000	0.05858	0.000000	0.03702	0.892000	0.51952	-1.355000	0.02612	-0.583000	0.05921	0.655000	0.94253	CGA		0.353	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		T	124593448	C	T	124593448	3	4	190	1	0	0	0	0	1	0	0	0	4068	884	31	1	440	1	CUZD1	10	124593448	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08	123443673	124593448	10941299	32	11850											
MUC5B	727897	broad.mit.edu	37	11	1268529	1268529	+	Silent	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr11:1268529G>A	ENST00000529681.1	+	31	10477	c.10419G>A	c.(10417-10419)tcG>tcA	p.S3473S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S3476S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3473	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S3452S(1)|p.S3473S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGACTTCGGCCACCTCGG	0.672																																																2	Substitution - coding silent(2)	kidney(2)											61	87	78					11																	1268529		2117	4207	6324	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10419G>A	11.37:g.1268529G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1268529	G	A	1268529	2	1	190	1	0	0	0	0	0	0	0	1	9981	1103	39	1		1	MUC5B	11	1268529	Silent	SNP	G	TCGA-B0-5107-01A-01D-1421-08		1268529	133737987	33	11851											
RBM14	10432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66391778	66391778	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr11:66391778T>G	ENST00000310137.4	+	2	570	c.431T>G	c.(430-432)gTg>gGg	p.V144G	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000443702.1_3'UTR|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Missense_Mutation_p.V144G|RBM14_ENST00000409372.1_3'UTR|RBM14_ENST00000461478.1_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	144	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.V144G(1)	RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CGCATCAACGTGGAACTCTCC	0.567																																																1	Substitution - Missense(1)	kidney(1)											72	68	69					11																	66391778		2200	4295	6495	SO:0001583	missense	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.431T>G	11.37:g.66391778T>G	ENSP00000311747:p.Val144Gly		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511496	0.64522	.	.	ENSG00000239306	ENST00000310137;ENST00000393979	D;D	0.84298	-1.83;-1.83	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.167328	0.39341	N	0.001399	D	0.95424	0.8514	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96950	0.9694	10	0.87932	D	0	-4.2429	13.8694	0.63610	0.0:0.0:0.0:1.0	.	144;144	Q96PK6-2;Q96PK6	.;RBM14_HUMAN	G	144	ENSP00000311747:V144G;ENSP00000377548:V144G	ENSP00000311747:V144G	V	+	2	0	RBM14	66148354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.722000	0.74735	2.170000	0.68504	0.533000	0.62120	GTG		0.567	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		G	66391778	T	G	66391778	3	3	190	1	0	0	0	0	1	0	0	0	13121	1696	59	5	437	5	RBM14	11	66391778	Missense_Mutation	SNP	T	TCGA-B0-5107-01A-01D-1421-08	65123249	66391778	68614738	34	11852											
SHANK2	22941	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	70332433	70332433	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr11:70332433G>C	ENST00000423696.2	-	15	2864	c.2828C>G	c.(2827-2829)aCt>aGt	p.T943S	SHANK2_ENST00000409161.1_Missense_Mutation_p.T726S|SHANK2_ENST00000449833.2_Missense_Mutation_p.T727S|SHANK2_ENST00000338508.4_Missense_Mutation_p.T1323S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	943					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.T727S(1)|p.T1323S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCCAGCTTAGTGGCGTCCAC	0.587																																																2	Substitution - Missense(2)	kidney(2)											119	105	109					11																	70332433		2200	4294	6494	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2828C>G	11.37:g.70332433G>C	ENSP00000394536:p.Thr943Ser		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.	.	.	.	.	.	.	.	.	.	G	8.529	0.870646	0.17322	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24	5.24	4.33	0.51752	.	0.662733	0.12892	U	0.430521	T	0.14098	0.0341	N	0.22421	0.69	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.13407	0.001;0.009;0.003	T	0.04281	-1.0963	10	0.44086	T	0.13	.	13.7719	0.63032	0.0743:0.0:0.9257:0.0	.	943;1322;727	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	S	727;726;601;1323;943;961;946	ENSP00000399423:T727S;ENSP00000386491:T726S;ENSP00000402944:T601S;ENSP00000345193:T1323S;ENSP00000394536:T943S;ENSP00000294018:T946S	ENSP00000294018:T946S	T	-	2	0	SHANK2	70010081	0.183000	0.23186	0.086000	0.20670	0.323000	0.28346	2.791000	0.47829	1.196000	0.43129	0.561000	0.74099	ACT		0.587	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		C	70332433	G	C	70332433	3	2	190	1	0	0	0	0	1	0	0	0	14271	1029	36	4	1592	4	SHANK2	11	70332433	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	3940655	70332433	64674083	35	11853											
NLRX1	79671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119050726	119050726	+	Missense_Mutation	SNP	G	G	A	rs566863085	byFrequency	TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr11:119050726G>A	ENST00000409109.1	+	7	2583	c.1996G>A	c.(1996-1998)Ggc>Agc	p.G666S	NLRX1_ENST00000525863.1_Missense_Mutation_p.G666S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G666S|NLRX1_ENST00000409991.1_Missense_Mutation_p.G666S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G666S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	666	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.G666S(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCAAGCTGGGCCGGCAGGT	0.607													G|||	4	0.000798722	0.0	0.0	5008	,	,		18348	0.0		0.0	False		,,,				2504	0.0041															2	Substitution - Missense(2)	kidney(2)											25	26	25					11																	119050726		2199	4292	6491	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1996G>A	11.37:g.119050726G>A	ENSP00000387334:p.Gly666Ser		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	8.488	0.861290	0.17178	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.69806	-0.32;-0.32;-0.43;-0.32;-0.43	5.33	4.36	0.52297	.	0.220594	0.39834	N	0.001242	T	0.30823	0.0777	N	0.02916	-0.46	0.36620	D	0.87569	B;B	0.33940	0.433;0.1	B;B	0.26310	0.068;0.012	T	0.42068	-0.9473	10	0.08837	T	0.75	.	5.8745	0.18822	0.194:0.1621:0.6439:0.0	.	666;666	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	666	ENSP00000386851:G666S;ENSP00000292199:G666S;ENSP00000386858:G666S;ENSP00000387334:G666S;ENSP00000433442:G666S	ENSP00000292199:G666S	G	+	1	0	NLRX1	118555936	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.235000	0.51328	2.503000	0.84419	0.561000	0.74099	GGC		0.607	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		A	119050726	G	A	119050726	3	1	190	1	0	0	0	0	1	0	0	0	10487	1232	43	2	2018	2	NLRX1	11	119050726	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	48718293	119050726	15955790	36	11854											
WIF1	11197	hgsc.bcm.edu;ucsc.edu	37	12	65461562	65461562	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr12:65461562G>T	ENST00000286574.4	-	5	921	c.547C>A	c.(547-549)Cca>Aca	p.P183T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	183	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.C182_P183>*(2)|p.P183T(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CACCCGCCTGGGCACTCAGCT	0.488			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	4	Substitution - Missense(2)|Complex - deletion inframe(2)	lung(4)											61	59	59					12																	65461562		2203	4300	6503	SO:0001583	missense	11197			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.547C>A	12.37:g.65461562G>T	ENSP00000286574:p.Pro183Thr		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827064	0.32329	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T	0.65364	-0.15	5.64	4.74	0.60224	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.116200	0.64402	D	0.000017	T	0.52125	0.1715	L	0.35487	1.065	0.58432	D	0.999997	P	0.38827	0.649	B	0.38683	0.279	T	0.49960	-0.8883	9	.	.	.	.	14.7726	0.69691	0.0694:0.0:0.9306:0.0	.	183	Q9Y5W5	WIF1_HUMAN	T	183;121	ENSP00000286574:P183T	.	P	-	1	0	WIF1	63747829	1.000000	0.71417	0.997000	0.53966	0.411000	0.31082	7.782000	0.85680	1.522000	0.49001	0.655000	0.94253	CCA		0.488	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			T	65461562	G	T	65461562	3	4	190	1	0	0	0	0	1	0	0	0	17371	1232	43	4	616	4	WIF1	12	65461562	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08		65461562	68390333	37	11855											
POC1B	282809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	89885726	89885726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr12:89885726delC	ENST00000313546.3	-	4	567	c.439delG	c.(439-441)gtafs	p.V147fs	POC1B_ENST00000541909.1_Frame_Shift_Del_p.V17fs|POC1B_ENST00000549035.1_Frame_Shift_Del_p.V105fs|POC1B_ENST00000378528.2_Frame_Shift_Del_p.V17fs|POC1B_ENST00000549504.1_Frame_Shift_Del_p.V17fs|POC1B_ENST00000393179.4_Frame_Shift_Del_p.V17fs	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	147					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GCACAGCGTACCCAGTGTGTA	0.418																																																0													120	115	117					12																	89885726		2203	4300	6503	SO:0001589	frameshift_variant	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.439delG	12.37:g.89885726delC	ENSP00000323302:p.Val147fs		G3V1X0	Frame_Shift_Del	DEL	ENST00000313546.3	37	CCDS31869.1																																																																																				0.418	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		-	89885726	C	-	89885726	7	5	190	1	0	1	0	1	0	0	0	0	12178	507	18	0	1033	0	POC1B	12	89885726	Frame_Shift_Del	DEL	C	TCGA-B0-5107-01A-01D-1421-08	24424164	89885726	43966169	38	11856											
NTN4	59277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96181160	96181161	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr12:96181160_96181161delAG	ENST00000343702.4	-	2	589_590	c.141_142delCT	c.(139-144)ctctggfs	p.W48fs	NTN4_ENST00000344911.4_Frame_Shift_Del_p.W11fs|NTN4_ENST00000538383.1_Frame_Shift_Del_p.W11fs|NTN4_ENST00000553059.1_Frame_Shift_Del_p.W48fs	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	48	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTGTCTGCCCAGAGTTTTCGCC	0.52																																																0																																										SO:0001589	frameshift_variant	59277			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.141_142delCT	12.37:g.96181162_96181163delAG	ENSP00000340998:p.Trp48fs		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Frame_Shift_Del	DEL	ENST00000343702.4	37	CCDS9054.1																																																																																				0.52	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		-	96181161	AG	-	96181160	7	5	190	1	0	1	0	1	0	0	0	0	10704	188	7	0	1780	0	NTN4	12	96181160	Frame_Shift_Del	DEL	AG	TCGA-B0-5107-01A-01D-1421-08	6295434	96181160	37670735	39	11857											
MAB21L1	4081	broad.mit.edu;ucsc.edu	37	13	36049373	36049373	+	Silent	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr13:36049373G>A	ENST00000379919.4	-	1	1459	c.903C>T	c.(901-903)aaC>aaT	p.N301N	NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	301					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.N301N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GCAAAATCCCGTTCAGCCGAT	0.517																																																1	Substitution - coding silent(1)	kidney(1)											112	97	102					13																	36049373		2203	4300	6503	SO:0001819	synonymous_variant	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.903C>T	13.37:g.36049373G>A			Q6I9T5	Silent	SNP	ENST00000379919.4	37	CCDS9353.1																																																																																				0.517	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		A	36049373	G	A	36049373	2	1	190	1	0	0	0	0	0	0	0	1	9143	1136	40	1		1	MAB21L1	13	36049373	Silent	SNP	G	TCGA-B0-5107-01A-01D-1421-08		36049373	79120505	40	11858											
CIDEB	27141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24774973	24774973	+	Splice_Site	SNP	T	T	C			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr14:24774973T>C	ENST00000336557.5	-	8	1830		c.e8-2		CIDEB_ENST00000258807.5_Splice_Site|CIDEB_ENST00000554411.1_Splice_Site|NOP9_ENST00000267425.3_3'UTR			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b						apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)	p.?(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		AGGAGCTCCCTGAATGGCAGA	0.532																																																1	Unknown(1)	kidney(1)											53	48	50					14																	24774973		2203	4300	6503	SO:0001630	splice_region_variant	27141			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.528-2A>G	14.37:g.24774973T>C			D3DS73|Q546V8|Q9NNW9	Splice_Site	SNP	ENST00000336557.5	37	CCDS32056.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711061	0.68730	.	.	ENSG00000136305	ENST00000554411;ENST00000336557;ENST00000258807;ENST00000541830	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2259	0.65858	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CIDEB	23844813	1.000000	0.71417	0.936000	0.37596	0.966000	0.64601	4.695000	0.61767	2.013000	0.59113	0.383000	0.25322	.		0.532	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1		Intron	C	24774973	T	C	24774973	5	2	190	1	0	0	0	0	0	0	1	0	3428	1594	55	3	137	3	CIDEB	14	24774973	Splice_Site	SNP	T	TCGA-B0-5107-01A-01D-1421-08		24774973	82574567	41	11859											
ARHGAP5	394	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	32560575	32560575	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr14:32560575delA	ENST00000345122.3	+	2	1015	c.700delA	c.(700-702)aacfs	p.N234fs	ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.N234fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.N234fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.N234fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	234					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATTTAATGTCAACATTGAAAC	0.348																																					NSCLC(9;77 350 3443 29227 41353)											0													97	104	102					14																	32560575		2203	4300	6503	SO:0001589	frameshift_variant	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.700delA	14.37:g.32560575delA	ENSP00000371897:p.Asn234fs		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Del	DEL	ENST00000345122.3	37	CCDS32062.1																																																																																				0.348	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		-	32560575	A	-	32560575	7	5	190	1	0	1	0	1	0	0	0	0	886	130	5	0	702	0	ARHGAP5	14	32560575	Frame_Shift_Del	DEL	A	TCGA-B0-5107-01A-01D-1421-08	7785602	32560575	74788965	42	11860											
FLVCR2	55640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	76088434	76088434	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr14:76088434A>G	ENST00000238667.4	+	2	1038	c.682A>G	c.(682-684)Att>Gtt	p.I228V	FLVCR2_ENST00000556856.1_5'Flank|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.I23V|FLVCR2_ENST00000553587.1_5'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	228					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)	p.I228V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGGAATTGCGATTGGGTTCTT	0.438																																																1	Substitution - Missense(1)	kidney(1)											320	293	302					14																	76088434		2203	4300	6503	SO:0001583	missense	55640			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.682A>G	14.37:g.76088434A>G	ENSP00000238667:p.Ile228Val		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	A	2.546	-0.305120	0.05495	.	.	ENSG00000119686	ENST00000238667;ENST00000539311	T;T	0.59638	0.25;0.25	5.86	0.173	0.15036	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.187356	0.46442	D	0.000299	T	0.34571	0.0902	L	0.31926	0.97	0.58432	D	0.999999	B;B	0.06786	0.001;0.0	B;B	0.19666	0.026;0.008	T	0.04621	-1.0938	10	0.13470	T	0.59	-5.3741	1.8935	0.03252	0.4862:0.2508:0.1417:0.1213	.	23;228	B7Z485;Q9UPI3	.;FLVC2_HUMAN	V	228;23	ENSP00000238667:I228V;ENSP00000443439:I23V	ENSP00000238667:I228V	I	+	1	0	AC007182.1	75158187	0.076000	0.21285	0.512000	0.27736	0.530000	0.34684	0.555000	0.23422	0.467000	0.27218	-0.316000	0.08728	ATT		0.438	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		G	76088434	A	G	76088434	3	3	190	1	0	0	0	0	1	0	0	0	5948	333	12	3	688	3	FLVCR2	14	76088434	Missense_Mutation	SNP	A	TCGA-B0-5107-01A-01D-1421-08	43527859	76088434	31261106	43	11861											
CAPN3	825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42702005	42702005	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr15:42702005T>G	ENST00000397163.3	+	18	2232	c.2013T>G	c.(2011-2013)gaT>gaG	p.D671E	CAPN3_ENST00000397200.4_Missense_Mutation_p.D159E|CAPN3_ENST00000357568.3_Missense_Mutation_p.D665E|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Missense_Mutation_p.D6E|CAPN3_ENST00000356316.3_Missense_Mutation_p.D578E|CAPN3_ENST00000349748.3_Missense_Mutation_p.D579E|CAPN3_ENST00000318023.7_Missense_Mutation_p.D665E|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000569136.1_Missense_Mutation_p.D6E|CAPN3_ENST00000561817.1_Missense_Mutation_p.D6E|CAPN3_ENST00000397204.4_Missense_Mutation_p.D6E	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	671	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D578E(1)|p.D665E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCTGTGCAGATGAGCTCAAGA	0.537																																																2	Substitution - Missense(2)	kidney(2)											150	143	145					15																	42702005		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2013T>G	15.37:g.42702005T>G	ENSP00000380349:p.Asp671Glu		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.842273	0.32513	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	4.79	-1.7	0.08159	EF-hand-like domain (1);	0.123301	0.53938	U	0.000058	T	0.42854	0.1221	N	0.04297	-0.235	0.31256	N	0.693509	B;B;B;B;B;B;B	0.20052	0.023;0.041;0.008;0.018;0.033;0.02;0.002	B;B;B;B;B;B;B	0.30716	0.042;0.119;0.029;0.024;0.072;0.033;0.013	T	0.40098	-0.9581	10	0.07325	T	0.83	.	4.2445	0.10665	0.1076:0.4118:0.1106:0.37	.	536;584;6;579;665;671;578	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	E	578;159;671;665;579;665;159;6;6	ENSP00000348667:D578E;ENSP00000380349:D671E;ENSP00000350181:D665E;ENSP00000183936:D579E;ENSP00000326281:D665E;ENSP00000380384:D159E;ENSP00000336840:D6E;ENSP00000380387:D6E	ENSP00000326281:D665E	D	+	3	2	CAPN3	40489297	0.511000	0.26179	0.988000	0.46212	0.971000	0.66376	-0.280000	0.08468	-0.515000	0.06479	-0.512000	0.04463	GAT		0.537	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			G	42702005	T	G	42702005	3	3	190	1	0	0	0	0	1	0	0	0	2630	1461	51	5	2135	5	CAPN3	15	42702005	Missense_Mutation	SNP	T	TCGA-B0-5107-01A-01D-1421-08		42702005	59829387	44	11862											
CPEB1	64506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	83226709	83226709	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr15:83226709C>A	ENST00000562019.1	-	4	723	c.407G>T	c.(406-408)gGa>gTa	p.G136V	CPEB1_ENST00000564522.1_Missense_Mutation_p.G61V|RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000563800.1_Missense_Mutation_p.G163V|CPEB1_ENST00000398592.2_Intron|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.G61V|CPEB1_ENST00000261723.6_Missense_Mutation_p.G139V|CPEB1_ENST00000398591.2_Missense_Mutation_p.G61V|CPEB1_ENST00000568128.1_Missense_Mutation_p.G136V|CPEB1_ENST00000450751.2_Missense_Mutation_p.G61V|CPEB1_ENST00000423133.2_Missense_Mutation_p.G61V			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	136					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.G136V(1)|p.G61V(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAGGACATTTCCCAGTGGGTT	0.502																																																2	Substitution - Missense(2)	kidney(2)											52	54	53					15																	83226709		1903	4127	6030	SO:0001583	missense	64506			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.407G>T	15.37:g.83226709C>A	ENSP00000457836:p.Gly136Val		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37		.	.	.	.	.	.	.	.	.	.	C	19.58	3.854770	0.71719	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723	.	.	.	5.84	5.84	0.93424	.	0.241744	0.37623	U	0.002015	T	0.64864	0.2637	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.68192	0.956;0.914;0.956;0.956	T	0.68727	-0.5332	9	0.87932	D	0	-11.3744	19.1261	0.93384	0.0:1.0:0.0:0.0	.	139;136;136;136	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	V	136;136;61;61;139	.	ENSP00000261723:G139V	G	-	2	0	CPEB1	81023764	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	6.934000	0.75880	2.779000	0.95612	0.655000	0.94253	GGA		0.502	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		A	83226709	C	A	83226709	3	1	190	1	0	0	0	0	1	0	0	0	3802	855	30	4	1329	4	CPEB1	15	83226709	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08	40524704	83226709	19304683	45	11863											
ALPK3	57538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	85406027	85406027	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr15:85406027G>A	ENST00000258888.5	+	10	5064	c.4897G>A	c.(4897-4899)Ggg>Agg	p.G1633R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1633	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1633R(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGTCATCTACGGGCTGGAACC	0.607																																																2	Substitution - Missense(2)	kidney(2)											95	93	93					15																	85406027		2203	4299	6502	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4897G>A	15.37:g.85406027G>A	ENSP00000258888:p.Gly1633Arg		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849162	0.91277	.	.	ENSG00000136383	ENST00000258888	T	0.08282	3.11	4.86	4.86	0.63082	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.62723	1.935	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.00510	-1.1697	10	0.87932	D	0	-25.6664	15.5217	0.75871	0.0:0.0:1.0:0.0	.	1633	Q96L96	ALPK3_HUMAN	R	1633	ENSP00000258888:G1633R	ENSP00000258888:G1633R	G	+	1	0	ALPK3	83207031	1.000000	0.71417	0.995000	0.50966	0.920000	0.55202	9.069000	0.93967	2.507000	0.84556	0.655000	0.94253	GGG		0.607	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		A	85406027	G	A	85406027	3	1	190	1	0	0	0	0	1	0	0	0	546	1116	39	1	4935	1	ALPK3	15	85406027	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	2179318	85406027	17125365	46	11864											
CRK	1398	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1326915	1326915	+	Silent	SNP	A	A	G			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr17:1326915A>G	ENST00000300574.2	-	3	947	c.807T>C	c.(805-807)atT>atC	p.I269I	CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_3'UTR|RP11-818O24.3_ENST00000576825.1_RNA|CRK_ENST00000574295.1_Intron|RP11-818O24.3_ENST00000570924.1_RNA	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	269	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)	p.I269I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CACTCACATTAATCTTCGTAA	0.488																																																1	Substitution - coding silent(1)	kidney(1)											216	165	182					17																	1326915		2203	4300	6503	SO:0001819	synonymous_variant	1398			D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"SH2 domain containing"	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.807T>C	17.37:g.1326915A>G			A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Silent	SNP	ENST00000300574.2	37	CCDS11002.1																																																																																				0.488	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		G	1326915	A	G	1326915	2	3	190	1	0	0	0	0	0	0	0	1	3886	358	13	3		3	CRK	17	1326915	Silent	SNP	A	TCGA-B0-5107-01A-01D-1421-08		1326915	79868295	47	11865											
OR1A1	8383	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3119395	3119395	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr17:3119395C>A	ENST00000304094.1	+	1	481	c.481C>A	c.(481-483)Ctg>Atg	p.L161M		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L161M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCCCCACACTCTGCTCACAGC	0.502																																																1	Substitution - Missense(1)	kidney(1)											149	128	135					17																	3119395		2203	4300	6503	SO:0001583	missense	8383			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.481C>A	17.37:g.3119395C>A	ENSP00000305207:p.Leu161Met		A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486540	0.44249	.	.	ENSG00000172146	ENST00000304094	T	0.41758	0.99	4.96	2.93	0.34026	GPCR, rhodopsin-like superfamily (1);	0.187668	0.26355	N	0.024860	T	0.60843	0.2300	M	0.82193	2.58	0.19300	N	0.999971	D	0.53745	0.962	D	0.65233	0.933	T	0.52711	-0.8539	10	0.72032	D	0.01	.	7.9625	0.30079	0.3239:0.5191:0.157:0.0	.	161	Q9P1Q5	OR1A1_HUMAN	M	161	ENSP00000305207:L161M	ENSP00000305207:L161M	L	+	1	2	OR1A1	3066145	0.000000	0.05858	1.000000	0.80357	0.933000	0.57130	-2.087000	0.01360	0.660000	0.30964	0.436000	0.28706	CTG		0.502	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		A	3119395	C	A	3119395	3	1	190	1	0	0	0	0	1	0	0	0	10951	912	32	4	483	4	OR1A1	17	3119395	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08	1792480	3119395	78075815	48	11866											
C17orf103	256302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	21147503	21147503	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr17:21147503G>A	ENST00000468196.1	-	2	285	c.140C>T	c.(139-141)aCg>aTg	p.T47M	C17orf103_ENST00000399011.2_Silent_p.Y46Y			Q8N6N6	NATD1_HUMAN		0	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.							p.Y46Y(1)|p.T47M(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						GCTTGCCCACGTACTCATAGA	0.627																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)											44	47	46					17																	21147503		2160	4261	6421	SO:0001583	missense	256302																														ENST00000468196.1:c.140C>T	17.37:g.21147503G>A	ENSP00000457007:p.Thr47Met		A8MWQ7|B3KX70	Missense_Mutation	SNP	ENST00000468196.1	37																																																																																					0.627	C17orf103-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253275.4			A	21147503	G	A	21147503	3	1	190	1	0	0	0	0	1	0	0	0	1852	1140	40	1	87	1	C17orf103	17	21147503	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	18028108	21147503	60047707	49	11867											
EVPL	2125	broad.mit.edu;hgsc.bcm.edu	37	17	74011147	74011147	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr17:74011147C>T	ENST00000301607.3	-	17	2325	c.2072G>A	c.(2071-2073)cGg>cAg	p.R691Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R713Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	691	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.R691Q(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGGTGTAGCCGCAGCACGCA	0.687																																																1	Substitution - Missense(1)	kidney(1)											26	29	28					17																	74011147		2200	4290	6490	SO:0001583	missense	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2072G>A	17.37:g.74011147C>T	ENSP00000301607:p.Arg691Gln		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356702	0.24598	.	.	ENSG00000167880	ENST00000301607	T	0.33216	1.42	4.82	3.83	0.44106	.	0.352145	0.32258	N	0.006352	T	0.10637	0.0260	N	0.03608	-0.345	0.21802	N	0.99953	B;B	0.19445	0.007;0.036	B;B	0.10450	0.001;0.005	T	0.24512	-1.0158	10	0.14252	T	0.57	-65.5485	4.6788	0.12725	0.0:0.5994:0.2053:0.1953	.	713;691	B7ZLH8;Q92817	.;EVPL_HUMAN	Q	691	ENSP00000301607:R691Q	ENSP00000301607:R691Q	R	-	2	0	EVPL	71522742	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	1.792000	0.38754	1.307000	0.44944	0.561000	0.74099	CGG		0.687	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		T	74011147	C	T	74011147	3	4	190	1	0	0	0	0	1	0	0	0	5294	652	23	1	4053	1	EVPL	17	74011147	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08	52863644	74011147	7184063	50	11868											
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	7026067	7026067	+	Silent	SNP	C	C	T			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr18:7026067C>T	ENST00000389658.3	-	17	2406	c.2313G>A	c.(2311-2313)caG>caA	p.Q771Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	771	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.Q771Q(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGGGCAAGCACTGCTCACAGT	0.572																																																1	Substitution - coding silent(1)	kidney(1)											47	35	39					18																	7026067		2203	4300	6503	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2313G>A	18.37:g.7026067C>T				Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.572	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7026067	C	T	7026067	2	4	190	1	0	0	0	0	0	0	0	1	8607	564	20	2		2	LAMA1	18	7026067	Silent	SNP	C	TCGA-B0-5107-01A-01D-1421-08		7026067	71051181	51	11869											
C3	718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6686809	6686809	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr19:6686809C>G	ENST00000245907.6	-	28	3686	c.3594G>C	c.(3592-3594)caG>caC	p.Q1198H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1198					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.Q1198H(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GCCTGCCCATCTGGGCCAGAG	0.532																																																1	Substitution - Missense(1)	kidney(1)											158	147	151					19																	6686809		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3594G>C	19.37:g.6686809C>G	ENSP00000245907:p.Gln1198His		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584678	0.28268	.	.	ENSG00000125730	ENST00000245907	T	0.32753	1.44	6.06	1.46	0.22682	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.695276	0.14070	N	0.343441	T	0.16257	0.0391	N	0.17082	0.46	0.09310	N	1	B	0.18461	0.028	B	0.19148	0.024	T	0.19192	-1.0313	10	0.51188	T	0.08	.	4.1592	0.10275	0.1315:0.5997:0.127:0.1418	.	1198	P01024	CO3_HUMAN	H	1198	ENSP00000245907:Q1198H	ENSP00000245907:Q1198H	Q	-	3	2	C3	6637809	0.000000	0.05858	0.000000	0.03702	0.419000	0.31324	0.154000	0.16343	0.122000	0.18314	0.655000	0.94253	CAG		0.532	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		G	6686809	C	G	6686809	3	3	190	1	0	0	0	0	1	0	0	0	2206	912	32	4	1453	4	C3	19	6686809	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08		6686809	52442174	52	11870											
FBN3	84467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8165827	8165827	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr19:8165827C>T	ENST00000600128.1	-	41	5533	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T	FBN3_ENST00000270509.2_Missense_Mutation_p.A1707T|FBN3_ENST00000601739.1_Missense_Mutation_p.A1707T			Q75N90	FBN3_HUMAN	fibrillin 3	1707						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.A1707T(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AATCCCGGGGCCTGATTTCCA	0.622																																																1	Substitution - Missense(1)	kidney(1)											128	116	120					19																	8165827		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5119G>A	19.37:g.8165827C>T	ENSP00000470498:p.Ala1707Thr		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	1.837	-0.468472	0.04445	.	.	ENSG00000142449	ENST00000270509	D	0.87103	-2.21	3.24	3.24	0.37175	Matrix fibril-associated (2);	0.194805	0.43747	U	0.000539	T	0.80110	0.4563	L	0.46157	1.445	0.44976	D	0.997993	B	0.32245	0.361	B	0.22386	0.039	T	0.76881	-0.2795	10	0.22706	T	0.39	.	13.3594	0.60646	0.0:1.0:0.0:0.0	.	1707	Q75N90	FBN3_HUMAN	T	1707	ENSP00000270509:A1707T	ENSP00000270509:A1707T	A	-	1	0	FBN3	8071827	0.027000	0.19231	0.262000	0.24481	0.021000	0.10359	0.828000	0.27435	1.503000	0.48686	0.486000	0.48141	GCC		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8165827	C	T	8165827	3	4	190	1	0	0	0	0	1	0	0	0	5706	739	26	2	3406	2	FBN3	19	8165827	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08	1479018	8165827	50963156	53	11871											
RHPN2	85415	broad.mit.edu;hgsc.bcm.edu	37	19	33493761	33493761	+	Silent	SNP	A	A	G			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr19:33493761A>G	ENST00000254260.3	-	8	941	c.906T>C	c.(904-906)aaT>aaC	p.N302N	RHPN2_ENST00000400226.4_Silent_p.N151N	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	302	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.N302N(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGAAGAATTCATTCCGGATCC	0.542																																																1	Substitution - coding silent(1)	kidney(1)											59	59	59					19																	33493761		2203	4300	6503	SO:0001819	synonymous_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.906T>C	19.37:g.33493761A>G			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	CCDS12427.1																																																																																				0.542	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		G	33493761	A	G	33493761	2	3	190	1	0	0	0	0	0	0	0	1	13357	214	8	3		3	RHPN2	19	33493761	Silent	SNP	A	TCGA-B0-5107-01A-01D-1421-08	25327934	33493761	25635222	54	11872											
USP29	57663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57640818	57640818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr19:57640818G>T	ENST00000254181.4	+	4	1229	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	USP29_ENST00000598197.1_Nonsense_Mutation_p.E259*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	259					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.E259*(1)|p.E259K(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTCCATTGGAACCAGAGCA	0.478																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	endometrium(1)|kidney(1)											84	86	85					19																	57640818		2203	4300	6503	SO:0001587	stop_gained	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.775G>T	19.37:g.57640818G>T	ENSP00000254181:p.Glu259*			Nonsense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609419	0.96637	.	.	ENSG00000131864	ENST00000254181	.	.	.	2.27	1.22	0.21188	.	1.324790	0.05844	U	0.619859	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	0.9359	4.6868	0.12762	0.1845:0.0:0.8155:0.0	.	.	.	.	X	259	.	ENSP00000254181:E259X	E	+	1	0	USP29	62332630	0.040000	0.19996	0.000000	0.03702	0.002000	0.02628	0.527000	0.22987	0.488000	0.27723	0.591000	0.81541	GAA		0.478	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			T	57640818	G	T	57640818	4	4	190	1	0	0	0	0	0	1	0	0	17064	1175	41	4	777	4	USP29	19	57640818	Nonsense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	24147057	57640818	1488165	55	11873											
NPBWR2	2832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62737383	62737383	+	Missense_Mutation	SNP	C	C	T	rs140478149		TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chr20:62737383C>T	ENST00000369768.1	-	1	1141	c.802G>A	c.(802-804)Gtg>Atg	p.V268M		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	268					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.V268M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGGAGGCACACGGCCAGCACG	0.677																																																1	Substitution - Missense(1)	kidney(1)						C	MET/VAL	0,4398		0,0,2199	108	80	90		802	1.9	0	20	dbSNP_134	90	3,8589	3.0+/-9.4	0,3,4293	yes	missense	NPBWR2	NM_005286.2	21	0,3,6492	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	268/334	62737383	3,12987	2199	4296	6495	SO:0001583	missense	2832			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.802G>A	20.37:g.62737383C>T	ENSP00000358783:p.Val268Met		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201571	0.58234	0.0	3.49E-4	ENSG00000125522	ENST00000369768	T	0.75821	-0.97	4.01	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000005	D	0.84669	0.5523	M	0.83118	2.625	0.39548	D	0.96893	D	0.89917	1.0	D	0.79784	0.993	D	0.84614	0.0680	10	0.87932	D	0	.	10.4213	0.44352	0.0:0.8301:0.0:0.1699	.	268	P48146	NPBW2_HUMAN	M	268	ENSP00000358783:V268M	ENSP00000358783:V268M	V	-	1	0	NPBWR2	62207827	0.889000	0.30405	0.005000	0.12908	0.668000	0.39293	3.245000	0.51407	0.132000	0.18615	0.491000	0.48974	GTG		0.677	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		T	62737383	C	T	62737383	3	4	190	1	0	0	0	0	1	0	0	0	10571	536	19	1	202	1	NPBWR2	20	62737383	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08		62737383	288137	56	11874											
TLR8	51311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	12939545	12939545	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chrX:12939545C>A	ENST00000218032.6	+	2	2473	c.2386C>A	c.(2386-2388)Ccc>Acc	p.P796T	TLR8_ENST00000311912.5_Missense_Mutation_p.P814T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	796	LRRCT.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.P814T(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TGTCAAAATTCCCAGACTGGT	0.433																																																1	Substitution - Missense(1)	kidney(1)											120	101	108					X																	12939545		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2386C>A	X.37:g.12939545C>A	ENSP00000218032:p.Pro796Thr		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399650	0.42512	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.33216	1.42;1.6	5.82	5.82	0.92795	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.40469	N	0.001081	T	0.62024	0.2394	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66436	-0.5924	10	0.72032	D	0.01	.	19.1282	0.93394	0.0:1.0:0.0:0.0	.	796;814	Q9NR97;D1CS70	TLR8_HUMAN;.	T	796;814	ENSP00000218032:P796T;ENSP00000312082:P814T	ENSP00000218032:P796T	P	+	1	0	TLR8	12849466	1.000000	0.71417	0.114000	0.21550	0.008000	0.06430	5.978000	0.70501	2.467000	0.83353	0.600000	0.82982	CCC		0.433	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		A	12939545	C	A	12939545	3	1	190	1	0	0	0	0	1	0	0	0	15962	855	30	4	2392	4	TLR8	23	12939545	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08		12939545	142331015	57	11875											
NHS	4810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	17745608	17745608	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chrX:17745608C>G	ENST00000380060.3	+	6	3657	c.3319C>G	c.(3319-3321)Cca>Gca	p.P1107A	NHS_ENST00000398097.3_Missense_Mutation_p.P951A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1128					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P1107A(1)|p.P951A(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GTCGAATCCTCCACCGTCCCT	0.403																																																2	Substitution - Missense(2)	kidney(2)											138	131	134					X																	17745608		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3319C>G	X.37:g.17745608C>G	ENSP00000369400:p.Pro1107Ala		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	0.723	-0.782678	0.02907	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.46451	0.87;0.87	5.94	4.15	0.48705	.	0.150033	0.64402	N	0.000008	T	0.30198	0.0757	L	0.41492	1.28	0.27207	N	0.960028	B;B;B;B	0.10296	0.003;0.003;0.003;0.001	B;B;B;B	0.12156	0.007;0.007;0.007;0.003	T	0.14671	-1.0464	10	0.30078	T	0.28	-9.6833	6.5468	0.22410	0.0:0.6618:0.1317:0.2064	.	1128;949;951;1107	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	A	1107;951;949	ENSP00000369400:P1107A;ENSP00000381170:P951A	ENSP00000369397:P949A	P	+	1	0	NHS	17655529	0.336000	0.24757	0.993000	0.49108	0.265000	0.26407	2.157000	0.42320	1.249000	0.43950	0.544000	0.68410	CCA		0.403	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		G	17745608	C	G	17745608	3	3	190	1	0	0	0	0	1	0	0	0	10413	855	30	4	3446	4	NHS	23	17745608	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08	4806063	17745608	137524952	58	11876											
PPEF1	5475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	18836212	18836212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chrX:18836212C>T	ENST00000361511.4	+	16	1944	c.1450C>T	c.(1450-1452)Cga>Tga	p.R484*	PPEF1_ENST00000544635.1_Nonsense_Mutation_p.R419*|PPEF1_ENST00000543630.1_Missense_Mutation_p.T374M|PPEF1_ENST00000349874.5_Nonsense_Mutation_p.R422*|PPEF1_ENST00000359763.6_Nonsense_Mutation_p.R431*	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	484	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.R484*(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGTGATTTCACGAAAAAGTGA	0.343																																																1	Substitution - Nonsense(1)	kidney(1)											126	112	117					X																	18836212		2203	4300	6503	SO:0001587	stop_gained	5475			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1450C>T	X.37:g.18836212C>T	ENSP00000354871:p.Arg484*		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Nonsense_Mutation	SNP	ENST00000361511.4	37	CCDS14188.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.563860|6.563860	0.97667|0.97667	.|.	.|.	ENSG00000086717|ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635|ENST00000543630	.|T	.|0.24151	.|1.87	5.23|5.23	4.36|4.36	0.52297|0.52297	.|.	0.922092|.	0.08983|.	N|.	0.865505|.	.|T	.|0.35508	.|0.0934	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45264	.|-0.9273	.|4	0.07030|.	T|.	0.85|.	-5.9262|-5.9262	13.4038|13.4038	0.60898|0.60898	0.1579:0.8421:0.0:0.0|0.1579:0.8421:0.0:0.0	.|.	.|.	.|.	.|.	X|M	484;431;422;419|374	.|ENSP00000437785:T374M	ENSP00000341892:R422X|.	R|T	+|+	1|2	2|0	PPEF1|PPEF1	18746133|18746133	0.988000|0.988000	0.35896|0.35896	0.963000|0.963000	0.40424|0.40424	0.041000|0.041000	0.13682|0.13682	1.991000|1.991000	0.40727|0.40727	1.077000|1.077000	0.40990|0.40990	0.422000|0.422000	0.28245|0.28245	CGA|ACG		0.343	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		T	18836212	C	T	18836212	4	4	190	1	0	0	0	0	0	1	0	0	12309	528	19	1	1500	1	PPEF1	23	18836212	Nonsense_Mutation	SNP	C	TCGA-B0-5107-01A-01D-1421-08	1090604	18836212	136434348	59	11877											
PHKA2	5256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	18970644	18970644	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chrX:18970644T>A	ENST00000379942.4	-	3	918	c.253A>T	c.(253-255)Atg>Ttg	p.M85L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	85					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.M85L(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGACCTCGCATCAGCTTCACC	0.512																																																1	Substitution - Missense(1)	kidney(1)											180	110	134					X																	18970644		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.253A>T	X.37:g.18970644T>A	ENSP00000369274:p.Met85Leu		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	T	33	5.245624	0.95272	.	.	ENSG00000044446	ENST00000379942	D	0.91068	-2.78	5.74	5.74	0.90152	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	M	0.88105	2.93	0.80722	D	1	P	0.44309	0.832	P	0.49477	0.612	D	0.94555	0.7757	10	0.59425	D	0.04	-31.8502	14.9586	0.71138	0.0:0.0:0.0:1.0	.	85	P46019	KPB2_HUMAN	L	85	ENSP00000369274:M85L	ENSP00000369274:M85L	M	-	1	0	PHKA2	18880565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.795000	0.85887	1.915000	0.55452	0.486000	0.48141	ATG		0.512	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		A	18970644	T	A	18970644	3	1	190	1	0	0	0	0	1	0	0	0	11846	1435	50	5	3578	5	PHKA2	23	18970644	Missense_Mutation	SNP	T	TCGA-B0-5107-01A-01D-1421-08	134432	18970644	136299916	60	11878											
CPXCR1	53336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	88009260	88009260	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5107-01A-01D-1421-08	TCGA-B0-5107-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2086a2e1-0451-45ba-9ca3-d4e5f61e590b	3120fe95-115c-4fea-acc0-40c37f8c24e8	g.chrX:88009260G>A	ENST00000276127.4	+	3	1104	c.845G>A	c.(844-846)gGa>gAa	p.G282E	CPXCR1_ENST00000373111.1_Missense_Mutation_p.G282E	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	282							metal ion binding (GO:0046872)	p.G282E(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCCATCTGTGGAAGGCTTTTT	0.299																																																1	Substitution - Missense(1)	kidney(1)											43	43	43					X																	88009260		2202	4293	6495	SO:0001583	missense	53336			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.845G>A	X.37:g.88009260G>A	ENSP00000276127:p.Gly282Glu		B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321036	0.23994	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.02258	4.37;4.37	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.42964	D	0.000628	T	0.03959	0.0111	L	0.27053	0.805	0.09310	N	1	D	0.67145	0.996	P	0.57960	0.83	T	0.45687	-0.9244	9	.	.	.	-6.6129	9.7587	0.40519	0.0:0.0:1.0:0.0	.	282	Q8N123	CPXCR_HUMAN	E	282	ENSP00000276127:G282E;ENSP00000362203:G282E	.	G	+	2	0	CPXCR1	87895916	0.008000	0.16893	0.004000	0.12327	0.010000	0.07245	2.122000	0.41987	2.051000	0.60960	0.594000	0.82650	GGA		0.299	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		A	88009260	G	A	88009260	3	1	190	1	0	0	0	0	1	0	0	0	3838	1174	41	2	847	2	CPXCR1	23	88009260	Missense_Mutation	SNP	G	TCGA-B0-5107-01A-01D-1421-08	69038616	88009260	67261300	61	11879											
VHL	7428	hgsc.bcm.edu	37	3	10183665	10183665	+	Missense_Mutation	SNP	C	C	T	rs199583685		TCGA-B0-5107-01A-01W-1475-10	TCGA-B0-5107-11A-01W-1475-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	12ca17d1-d74d-4927-81c0-16be4ee6febc	6b3be423-aa19-4913-9a56-8e814e0edec2	g.chr3:10183665C>T	ENST00000256474.2	+	1	974	c.134C>T	c.(133-135)cCg>cTg	p.P45L	VHL_ENST00000345392.2_Missense_Mutation_p.P45L|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	45	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)			adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GAGTCCGGCCCGGAGGAACTG	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				C|||	1	0.000199681	0.0	0.0	5008	,	,		10527	0.001		0.0	False		,,,				2504	0.0					yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	0																																										SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.134C>T	3.37:g.10183665C>T	ENSP00000256474:p.Pro45Leu		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.59	2.580733	0.46006	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.84298	-1.83;-1.83	3.53	0.582	0.17412	.	1.482540	0.04888	N	0.448902	T	0.73737	0.3625	N	0.19112	0.55	0.09310	N	1	B;B	0.22604	0.072;0.043	B;B	0.19666	0.026;0.012	T	0.61192	-0.7112	10	0.72032	D	0.01	0.0061	2.9019	0.05708	0.1708:0.3546:0.3717:0.1029	.	45;45	P40337-2;P40337	.;VHL_HUMAN	L	45	ENSP00000256474:P45L;ENSP00000344757:P45L	ENSP00000256474:P45L	P	+	2	0	VHL	10158665	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.435000	0.21510	0.107000	0.17824	0.555000	0.69702	CCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183665	C	T	10183665	3	4	191	1	0	0	0	0	1	0	0	0	17167	652	23	1	136	1	VHL	3	10183665	Missense_Mutation	SNP	C	TCGA-B0-5107-01A-01W-1475-10		10183665	187838765	1	11880											
EIF2B3	8891	hgsc.bcm.edu;ucsc.edu	37	1	45347334	45347334	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:45347334delC	ENST00000360403.2	-	7	860	c.734delG	c.(733-735)ggafs	p.G245fs	EIF2B3_ENST00000372183.3_Frame_Shift_Del_p.G245fs	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	245					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TTCTTCTTGTCCCTGTTGTGA	0.423																																					Colon(26;357 658 2581 11857 12657)											0													199	188	192					1																	45347334		2203	4300	6503	SO:0001589	frameshift_variant	8891			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.734delG	1.37:g.45347334delC	ENSP00000353575:p.Gly245fs		B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Frame_Shift_Del	DEL	ENST00000360403.2	37	CCDS517.1																																																																																				0.423	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		-	45347334	C	-	45347334	7	5	192	1	0	1	0	1	0	0	0	0	5004	855	30	0	685	0	EIF2B3	1	45347334	Frame_Shift_Del	DEL	C	TCGA-B0-5108-01A-01D-1421-08		45347334	203903287	1	11881											
AMY2A	279	broad.mit.edu	37	1	104160101	104160101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:104160101C>A	ENST00000414303.2	+	1	103	c.39C>A	c.(37-39)tgC>tgA	p.C13*		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	13					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)	p.C13*(1)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TTGGGTTCTGCTGGGCTCAGT	0.393																																																1	Substitution - Nonsense(1)	kidney(1)											81	70	74					1																	104160101		2200	4257	6457	SO:0001587	stop_gained	279			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.39C>A	1.37:g.104160101C>A	ENSP00000397582:p.Cys13*		B9EJG1|Q9UBH3	Nonsense_Mutation	SNP	ENST00000414303.2	37	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.06|16.06	3.015833|3.015833	0.54468|0.54468	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000414303;ENST00000393932|ENST00000423678	.|.	.|.	.|.	3.22|3.22	3.22|3.22	0.36961|0.36961	.|.	0.189423|.	0.64402|.	D|.	0.000017|.	.|T	.|0.52008	.|0.1708	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54728	.|-0.8250	.|3	0.11794|.	T|.	0.64|.	.|.	14.5293|14.5293	0.67912|0.67912	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	13|12	.|.	ENSP00000377509:C13X|.	C|L	+|+	3|1	2|2	AMY2A|AMY2A	103961624|103961624	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.206000|0.206000	0.24218|0.24218	1.304000|1.304000	0.33482|0.33482	1.784000|1.784000	0.52394|0.52394	0.455000|0.455000	0.32223|0.32223	TGC|CTG		0.393	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		A	104160101	C	A	104160101	4	1	192	1	0	0	0	0	0	1	0	0	594	805	28	4	41	4	AMY2A	1	104160101	Nonsense_Mutation	SNP	C	TCGA-B0-5108-01A-01D-1421-08	58812767	104160101	145090520	2	11882											
IGSF3	3321	hgsc.bcm.edu	37	1	117127342	117127343	+	Frame_Shift_Ins	INS	-	-	C	rs141884605		TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:117127342_117127343insC	ENST00000369486.3	-	9	3537_3538	c.2772_2773insG	c.(2770-2775)ctgcccfs	p.P925fs	IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.P945fs|IGSF3_ENST00000369483.1_Frame_Shift_Ins_p.P945fs	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	925	Ig-like C2-type 7.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTGGGGCTGGGCAGCCACTCCT	0.619																																																0																																										SO:0001589	frameshift_variant	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2773dupG	1.37:g.117127343_117127343dupC	ENSP00000358498:p.Pro925fs		A6NJZ6|A6NMC7	Frame_Shift_Ins	INS	ENST00000369486.3	37	CCDS30813.1																																																																																				0.619	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		C	117127343	-	C	117127342	7	5	192	1	0	1	1	0	0	0	0	0	7603	1203	42	0	823	0	IGSF3	1	117127342	Frame_Shift_Ins	INS	-	TCGA-B0-5108-01A-01D-1421-08	12967241	117127342	132123279	3	11883											
S100A12	6283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153346341	153346341	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:153346341C>T	ENST00000368737.3	-	3	358	c.241G>A	c.(241-243)Gcg>Acg	p.A81T		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	81	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokine secretion (GO:0050663)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|mast cell activation (GO:0045576)|monocyte chemotaxis (GO:0002548)|neutrophil chemotaxis (GO:0030593)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)	p.A81T(1)		endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	GCCTTCAGCGCAATGGCTACC	0.443																																																1	Substitution - Missense(1)	kidney(1)											131	132	132					1																	153346341		2203	4300	6503	SO:0001583	missense	6283			BC070294	CCDS1037.1	1q21	2013-01-10	2006-09-11		ENSG00000163221	ENSG00000163221		"S100 calcium binding proteins", "EF-hand domain containing"	10489	protein-coding gene	gene with protein product		603112	"S100 calcium-binding protein A12 (calgranulin C)", "S100 calcium binding protein A12 (calgranulin C)"			8985590	Standard	NM_005621		Approved	p6, MRP6, CGRP, CAAF1, CAGC, ENRAGE	uc001fbr.1	P80511	OTTHUMG00000013127	ENST00000368737.3:c.241G>A	1.37:g.153346341C>T	ENSP00000357726:p.Ala81Thr		P83219|Q5SY66|Q7M4R1	Missense_Mutation	SNP	ENST00000368737.3	37	CCDS1037.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494367	0.26774	.	.	ENSG00000163221	ENST00000368737	T	0.05996	3.36	3.95	-0.185	0.13276	EF-hand-like domain (1);	0.616073	0.15666	N	0.250659	T	0.01387	0.0045	.	.	.	0.09310	N	1	B	0.25235	0.121	B	0.20767	0.031	T	0.44251	-0.9340	9	0.87932	D	0	.	3.1656	0.06534	0.3649:0.4279:0.0:0.2071	.	81	P80511	S10AC_HUMAN	T	81	ENSP00000357726:A81T	ENSP00000357726:A81T	A	-	1	0	S100A12	151612965	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	0.759000	0.26461	-0.017000	0.14103	-0.136000	0.14681	GCG		0.443	S100A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036795.1	NM_005621		T	153346341	C	T	153346341	3	4	192	1	0	0	0	0	1	0	0	0	13780	710	25	2	41	2	S100A12	1	153346341	Missense_Mutation	SNP	C	TCGA-B0-5108-01A-01D-1421-08	36218999	153346341	95904280	4	11884											
NTRK1	4914	hgsc.bcm.edu;ucsc.edu	37	1	156845351	156845351	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:156845351delC	ENST00000524377.1	+	12	1435	c.1394delC	c.(1393-1395)tccfs	p.S465fs	NTRK1_ENST00000358660.3_Frame_Shift_Del_p.S459fs|NTRK1_ENST00000368196.3_Frame_Shift_Del_p.S459fs|NTRK1_ENST00000392302.2_Frame_Shift_Del_p.S429fs	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	465					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTGGCCATGTCCCTGCATTTC	0.617			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0													84	77	80					1																	156845351		2203	4300	6503	SO:0001589	frameshift_variant	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1394delC	1.37:g.156845351delC	ENSP00000431418:p.Ser465fs		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Frame_Shift_Del	DEL	ENST00000524377.1	37	CCDS1161.1																																																																																				0.617	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		-	156845351	C	-	156845351	7	5	192	1	0	1	0	1	0	0	0	0	10708	855	30	0	1570	0	NTRK1	1	156845351	Frame_Shift_Del	DEL	C	TCGA-B0-5108-01A-01D-1421-08	3499010	156845351	92405270	5	11885											
PTPN7	5778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202117740	202117740	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:202117740G>C	ENST00000308986.5	-	10	1207	c.1077C>G	c.(1075-1077)agC>agG	p.S359R	PTPN7_ENST00000492977.1_5'Flank|PTPN7_ENST00000367279.4_Missense_Mutation_p.S398R|PTPN7_ENST00000544762.1_Missense_Mutation_p.S135R|PTPN7_ENST00000309017.3_Missense_Mutation_p.S464R|PTPN7_ENST00000543735.1_Missense_Mutation_p.S188R			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	359					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)	p.S398R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GGGGTCAGGGGCTGGGTTCCT	0.642																																																1	Substitution - Missense(1)	kidney(1)											71	66	68					1																	202117740		2203	4300	6503	SO:0001583	missense	5778			BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.1077C>G	1.37:g.202117740G>C	ENSP00000311133:p.Ser359Arg		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37		.	.	.	.	.	.	.	.	.	.	G	9.341	1.062946	0.19987	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000544762;ENST00000543735;ENST00000477554	T;T;T;T;T;T	0.11821	3.68;3.66;3.72;2.74;3.12;3.63	5.07	-0.979	0.10276	.	0.711655	0.13404	N	0.390388	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B	0.10296	0.002;0.0;0.0;0.003	B;B;B;B	0.11329	0.003;0.002;0.002;0.006	T	0.29761	-1.0001	10	0.59425	D	0.04	.	5.9299	0.19132	0.3297:0.0:0.5436:0.1267	.	433;307;359;398	B4DZD9;B4DVF0;P35236;P35236-2	.;.;PTN7_HUMAN;.	R	398;464;359;135;188;440	ENSP00000356248:S398R;ENSP00000309116:S464R;ENSP00000311133:S359R;ENSP00000438272:S135R;ENSP00000444624:S188R;ENSP00000418416:S440R	ENSP00000311133:S359R	S	-	3	2	PTPN7	200384363	0.828000	0.29307	0.704000	0.30370	0.445000	0.32107	0.263000	0.18478	-0.073000	0.12842	-0.258000	0.10820	AGC		0.642	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		C	202117740	G	C	202117740	3	2	192	1	0	0	0	0	1	0	0	0	12799	1194	42	4	9	4	PTPN7	1	202117740	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08	45272389	202117740	47132881	6	11886											
USH2A	7399	broad.mit.edu;ucsc.edu	37	1	215987118	215987118	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:215987118A>C	ENST00000307340.3	-	49	10085	c.9699T>G	c.(9697-9699)aaT>aaG	p.N3233K	USH2A_ENST00000366943.2_Missense_Mutation_p.N3233K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3233					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N3233K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCACTGATGATTTGGTTGTG	0.448										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	kidney(1)											137	127	130					1																	215987118		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9699T>G	1.37:g.215987118A>C	ENSP00000305941:p.Asn3233Lys		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	9.482	1.098360	0.20552	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12984	2.64;2.63	5.8	-11.6	0.00059	Fibronectin, type III (2);	0.521154	0.15623	U	0.252781	T	0.04497	0.0123	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10706	-1.0618	10	0.26408	T	0.33	.	4.3216	0.11020	0.1926:0.1967:0.4413:0.1694	.	3233	O75445	USH2A_HUMAN	K	3233	ENSP00000305941:N3233K;ENSP00000355910:N3233K	ENSP00000305941:N3233K	N	-	3	2	USH2A	214053741	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.659000	0.01975	-2.172000	0.00774	-1.431000	0.01090	AAT		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	215987118	A	C	215987118	3	2	192	1	0	0	0	0	1	0	0	0	17041	330	12	5	6005	5	USH2A	1	215987118	Missense_Mutation	SNP	A	TCGA-B0-5108-01A-01D-1421-08	13869378	215987118	33263503	7	11887											
CCDC104	112942	broad.mit.edu;hgsc.bcm.edu	37	2	55772134	55772134	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr2:55772134T>C	ENST00000349456.4	+	10	1167	c.1019T>C	c.(1018-1020)aTt>aCt	p.I340T	CCDC104_ENST00000339012.3_Missense_Mutation_p.I365T|CCDC104_ENST00000407816.3_Missense_Mutation_p.I311T			Q96G28	CFA36_HUMAN		340								p.I340T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAAGAAGTTATTAATAAGTAA	0.303																																																1	Substitution - Missense(1)	kidney(1)											27	30	29					2																	55772134		2200	4294	6494	SO:0001583	missense	112942																														ENST00000349456.4:c.1019T>C	2.37:g.55772134T>C	ENSP00000295117:p.Ile340Thr		Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982031	0.74474	.	.	ENSG00000163001	ENST00000339012;ENST00000349456;ENST00000407816	T;T;T	0.29397	1.57;1.58;1.59	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	T	0.61695	-0.7010	10	0.87932	D	0	.	16.0038	0.80344	0.0:0.0:0.0:1.0	.	340;365	Q96G28;Q96G28-2	CC104_HUMAN;.	T	365;340;311	ENSP00000342699:I365T;ENSP00000295117:I340T;ENSP00000385376:I311T	ENSP00000342699:I365T	I	+	2	0	CCDC104	55625638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.359000	0.66074	2.170000	0.68504	0.445000	0.29226	ATT		0.303	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			C	55772134	T	C	55772134	3	2	192	1	0	0	0	0	1	0	0	0	2741	1493	52	3	1057	3	CCDC104	2	55772134	Missense_Mutation	SNP	T	TCGA-B0-5108-01A-01D-1421-08		55772134	187427239	8	11888											
ANKRD36B	57730	broad.mit.edu	37	2	98201807	98201807	+	RNA	SNP	C	C	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr2:98201807C>T	ENST00000443455.1	-	0	394							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TTCTGGACACCAGGAGATGTA	0.473																																																0													26	25	25					2																	98201807		692	1590	2282			57730			AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98201807C>T			Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Silent	SNP	ENST00000443455.1	37																																																																																					0.473	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		T	98201807	C	T	98201807	1	4	192	0	1	0	0	0	0	0	0	0	666	581	21	2		2	ANKRD36B	2	98201807	RNA	SNP	C	TCGA-B0-5108-01A-01D-1421-08	42429673	98201807	144997566	9	11889											
CWC22	57703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	180818964	180818964	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr2:180818964G>A	ENST00000410053.3	-	16	1956	c.1657C>T	c.(1657-1659)Cac>Tac	p.H553Y	CWC22_ENST00000295749.6_Missense_Mutation_p.H553Y	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	553	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.H553Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TATAAAAGGTGAGCAAACATC	0.358																																																1	Substitution - Missense(1)	kidney(1)											136	128	131					2																	180818964		1899	4118	6017	SO:0001583	missense	57703				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1657C>T	2.37:g.180818964G>A	ENSP00000387006:p.His553Tyr		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012774	0.93346	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.31769	1.48;1.48;1.48	5.82	5.82	0.92795	Initiation factor eIF-4 gamma, MA3 (3);	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.84433	2.695	0.80722	D	1	P	0.48503	0.911	P	0.52386	0.697	T	0.60801	-0.7191	10	0.87932	D	0	-16.4401	19.0757	0.93161	0.0:0.0:1.0:0.0	.	553	Q9HCG8	CWC22_HUMAN	Y	553	ENSP00000387006:H553Y;ENSP00000295749:H553Y;ENSP00000384159:H553Y	ENSP00000295749:H553Y	H	-	1	0	CWC22	180527209	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.808000	0.99193	2.761000	0.94854	0.655000	0.94253	CAC		0.358	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		A	180818964	G	A	180818964	3	1	192	1	0	0	0	0	1	0	0	0	4070	1290	45	2	1089	2	CWC22	2	180818964	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08	82617157	180818964	62380409	10	11890											
PLCD4	84812	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219487602	219487602	+	Splice_Site	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr2:219487602G>C	ENST00000450993.2	+	6	1111		c.e6+1		PLCD4_ENST00000432688.1_Splice_Site|U3_ENST00000516996.1_RNA|PLCD4_ENST00000417849.1_Splice_Site	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4						acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGACAGTGGTAAGAGAAAT	0.502																																																1	Unknown(1)	kidney(1)											97	96	96					2																	219487602		1993	4179	6172	SO:0001630	splice_region_variant	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.772+1G>C	2.37:g.219487602G>C			Q53FS8	Splice_Site	SNP	ENST00000450993.2	37	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122353	0.77436	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5936	0.88004	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCD4	219195846	1.000000	0.71417	0.997000	0.53966	0.906000	0.53458	9.021000	0.93673	2.483000	0.83821	0.655000	0.94253	.		0.502	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1		Intron	C	219487602	G	C	219487602	5	2	192	1	0	0	0	0	0	0	1	0	12035	1275	44	4	791	4	PLCD4	2	219487602	Splice_Site	SNP	G	TCGA-B0-5108-01A-01D-1421-08	38668638	219487602	23711771	11	11891											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188248	10188248	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr3:10188248A>T	ENST00000256474.2	+	2	1231	c.391A>T	c.(391-393)Aac>Tac	p.N131Y	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	131	Involved in binding to CCT complex.		N -> K (in VHLD; type I). {ECO:0000269|PubMed:9829912}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N131fs*28(2)|p.N131fs*2(2)|p.N131Y(2)|p.N131*(1)|p.H125fs*27(1)|p.?fs(1)|p.V130fs*28(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCTTCTGGTTAACCAAACTGA	0.458		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Deletion - Frameshift(5)|Insertion - Frameshift(3)|Substitution - Missense(2)	kidney(10)											206	190	195					3																	10188248		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.391A>T	3.37:g.10188248A>T	ENSP00000256474:p.Asn131Tyr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.531249	0.64972	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99816	-6.91	5.07	3.92	0.45320	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98231	1.0483	10	0.72032	D	0.01	-21.5782	9.0517	0.36380	0.9118:0.0:0.0882:0.0	.	131	P40337	VHL_HUMAN	Y	131;49	ENSP00000256474:N131Y	ENSP00000256474:N131Y	N	+	1	0	VHL	10163248	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	6.899000	0.75682	0.901000	0.36495	0.460000	0.39030	AAC		0.458	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188248	A	T	10188248	3	4	192	1	0	0	0	0	1	0	0	0	17167	362	13	5	397	5	VHL	3	10188248	Missense_Mutation	SNP	A	TCGA-B0-5108-01A-01D-1421-08		10188248	187834182	12	11892											
FLNB	2317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	58128451	58128451	+	Silent	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr3:58128451G>A	ENST00000295956.4	+	31	5421	c.5256G>A	c.(5254-5256)ccG>ccA	p.P1752P	FLNB_ENST00000490882.1_Silent_p.P1783P|FLNB_ENST00000493452.1_Silent_p.P1559P|FLNB_ENST00000429972.2_Silent_p.P1741P|FLNB_ENST00000419752.2_Silent_p.P1572P|FLNB_ENST00000358537.3_Silent_p.P1728P|FLNB_ENST00000357272.4_Silent_p.P1752P|FLNB_ENST00000348383.5_Silent_p.P1752P	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1752					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.P1752P(1)|p.P1783P(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGTCATTCCGTTTGCTGTCA	0.512																																																2	Substitution - coding silent(2)	kidney(2)											159	133	142					3																	58128451		2203	4300	6503	SO:0001819	synonymous_variant	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5256G>A	3.37:g.58128451G>A			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	CCDS2885.1																																																																																				0.512	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		A	58128451	G	A	58128451	2	1	192	1	0	0	0	0	0	0	0	1	5936	1132	40	1		1	FLNB	3	58128451	Silent	SNP	G	TCGA-B0-5108-01A-01D-1421-08	47940203	58128451	139893979	13	11893											
MFI2	4241	broad.mit.edu;hgsc.bcm.edu	37	3	196753618	196753618	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr3:196753618C>G	ENST00000296350.5	-	3	330	c.217G>C	c.(217-219)Gac>Cac	p.D73H	MFI2_ENST00000296351.4_Missense_Mutation_p.D73H	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	73	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.D73H(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTGATGGCGTCAGCCTCCTGG	0.622																																																2	Substitution - Missense(2)	kidney(2)											64	57	60					3																	196753618		2203	4300	6503	SO:0001583	missense	4241				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.217G>C	3.37:g.196753618C>G	ENSP00000296350:p.Asp73His		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029451	0.75504	.	.	ENSG00000163975	ENST00000296350;ENST00000296351;ENST00000439320	T;T;T	0.55052	1.35;0.54;0.54	5.11	4.24	0.50183	.	0.046589	0.85682	D	0.000000	T	0.72228	0.3434	M	0.83852	2.665	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.984	T	0.72988	-0.4124	10	0.35671	T	0.21	-38.9183	12.8833	0.58030	0.0:0.9212:0.0:0.0788	.	73;73;73	P08582-2;Q53XS6;P08582	.;.;TRFM_HUMAN	H	73	ENSP00000296350:D73H;ENSP00000296351:D73H;ENSP00000393439:D73H	ENSP00000296350:D73H	D	-	1	0	MFI2	198238015	1.000000	0.71417	0.974000	0.42286	0.971000	0.66376	6.956000	0.76013	1.156000	0.42514	0.555000	0.69702	GAC		0.622	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			G	196753618	C	G	196753618	3	3	192	1	0	0	0	0	1	0	0	0	9524	826	29	4	2256	4	MFI2	3	196753618	Missense_Mutation	SNP	C	TCGA-B0-5108-01A-01D-1421-08	138625167	196753618	1268812	14	11894											
GRID2	2895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	94547477	94547477	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr4:94547477A>T	ENST00000282020.4	+	14	2509	c.2251A>T	c.(2251-2253)Atc>Ttc	p.I751F	GRID2_ENST00000510992.1_Missense_Mutation_p.I656F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	751					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.I751F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATATGTGGCTATCAATGACCC	0.368																																																1	Substitution - Missense(1)	kidney(1)											187	166	173					4																	94547477		2203	4300	6503	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2251A>T	4.37:g.94547477A>T	ENSP00000282020:p.Ile751Phe		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.412068	0.42817	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.26957	1.7;1.7	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.044578	0.85682	D	0.000000	T	0.24890	0.0604	L	0.46157	1.445	0.53005	D	0.999961	B;B	0.21688	0.059;0.059	B;B	0.22152	0.038;0.023	T	0.05146	-1.0903	10	0.72032	D	0.01	.	11.8341	0.52312	0.8537:0.1463:0.0:0.0	.	656;751	E9PH24;O43424	.;GRID2_HUMAN	F	751;656	ENSP00000282020:I751F;ENSP00000421257:I656F	ENSP00000282020:I751F	I	+	1	0	GRID2	94766500	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.602000	0.61098	2.055000	0.61198	0.397000	0.26171	ATC		0.368	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			T	94547477	A	T	94547477	3	4	192	1	0	0	0	0	1	0	0	0	6774	449	16	5	2305	5	GRID2	4	94547477	Missense_Mutation	SNP	A	TCGA-B0-5108-01A-01D-1421-08		94547477	96606799	15	11895											
CENPE	1062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	104054940	104054940	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr4:104054940T>C	ENST00000265148.3	-	41	6721	c.6632A>G	c.(6631-6633)aAa>aGa	p.K2211R	CENPE_ENST00000380026.3_Missense_Mutation_p.K2090R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2211	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.K2174R(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GTGCTGTATTTTAATTAGCAA	0.294																																																1	Substitution - Missense(1)	kidney(1)											127	118	121					4																	104054940		2201	4298	6499	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6632A>G	4.37:g.104054940T>C	ENSP00000265148:p.Lys2211Arg		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494814	0.64186	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70282	-0.46;-0.47	5.0	5.0	0.66597	.	.	.	.	.	T	0.63450	0.2512	L	0.47716	1.5	0.20196	N	0.999925	P;P	0.42908	0.573;0.793	B;B	0.38842	0.168;0.283	T	0.58679	-0.7594	9	0.48119	T	0.1	.	11.1228	0.48300	0.0:0.0:0.0:1.0	.	2090;2211	Q02224-3;Q02224	.;CENPE_HUMAN	R	2211;2175;2090	ENSP00000265148:K2211R;ENSP00000369365:K2090R	ENSP00000265148:K2211R	K	-	2	0	CENPE	104274389	0.060000	0.20803	0.178000	0.23040	0.935000	0.57460	2.313000	0.43735	1.881000	0.54492	0.519000	0.50382	AAA		0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104054940	T	C	104054940	3	2	192	1	0	0	0	0	1	0	0	0	3232	1841	64	3	1509	3	CENPE	4	104054940	Missense_Mutation	SNP	T	TCGA-B0-5108-01A-01D-1421-08	9507463	104054940	87099336	16	11896											
CEP120	153241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	122685709	122685709	+	Silent	SNP	A	A	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr5:122685709A>T	ENST00000306467.5	-	19	2959	c.2655T>A	c.(2653-2655)ctT>ctA	p.L885L	CEP120_ENST00000306481.6_Silent_p.L859L|CEP120_ENST00000328236.5_Silent_p.L885L			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	885					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.L885L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CCTCAGCGGCAAGGTAACGTA	0.363																																																1	Substitution - coding silent(1)	kidney(1)											140	132	135					5																	122685709		2203	4299	6502	SO:0001819	synonymous_variant	153241			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2655T>A	5.37:g.122685709A>T			Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Silent	SNP	ENST00000306467.5	37	CCDS4134.2																																																																																				0.363	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		T	122685709	A	T	122685709	2	4	192	1	0	0	0	0	0	0	0	1	3248	117	5	5		5	CEP120	5	122685709	Silent	SNP	A	TCGA-B0-5108-01A-01D-1421-08		122685709	58229551	17	11897											
HNRNPH1	3187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179047903	179047903	+	Silent	SNP	C	C	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr5:179047903C>T	ENST00000356731.5	-	3	1922	c.387G>A	c.(385-387)caG>caA	p.Q129Q	HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000393432.4_Silent_p.Q129Q|HNRNPH1_ENST00000442819.2_Silent_p.Q129Q|HNRNPH1_ENST00000329433.6_Silent_p.Q129Q|HNRNPH1_ENST00000511300.2_5'Flank|HNRNPH1_ENST00000510411.1_Silent_p.Q129Q			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	129	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.Q129Q(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CTGAGAAGAACTGAACAATTT	0.423																																																3	Substitution - coding silent(3)	kidney(3)											120	108	112					5																	179047903		2203	4300	6503	SO:0001819	synonymous_variant	3187			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.387G>A	5.37:g.179047903C>T			B3KW86|D3DWQ2|Q6IBM4	Silent	SNP	ENST00000356731.5	37	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	c	19.37	3.813818	0.70912	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.75042	0.3796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73701	-0.3900	4	.	.	.	-3.7476	19.0418	0.93002	0.0:1.0:0.0:0.0	.	.	.	.	I	20	.	.	V	-	1	0	HNRNPH1	178980509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.510000	0.84645	0.467000	0.42956	GTT		0.423	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		T	179047903	C	T	179047903	2	4	192	1	0	0	0	0	0	0	0	1	7268	564	20	2		2	HNRNPH1	5	179047903	Silent	SNP	C	TCGA-B0-5108-01A-01D-1421-08	56362194	179047903	1867357	18	11898											
FAM83B	222584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	54791201	54791201	+	Silent	SNP	T	T	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr6:54791201T>C	ENST00000306858.7	+	3	593	c.477T>C	c.(475-477)gaT>gaC	p.D159D		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	159								p.D159D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TATTTACAGATGTGGACATTT	0.303																																																1	Substitution - coding silent(1)	kidney(1)											95	100	98					6																	54791201		2203	4299	6502	SO:0001819	synonymous_variant	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.477T>C	6.37:g.54791201T>C			Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	CCDS34479.1																																																																																				0.303	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		C	54791201	T	C	54791201	2	2	192	1	0	0	0	0	0	0	0	1	5636	1461	51	3		3	FAM83B	6	54791201	Silent	SNP	T	TCGA-B0-5108-01A-01D-1421-08		54791201	116323866	19	11899											
DST	667	broad.mit.edu	37	6	56394513	56394513	+	Silent	SNP	G	G	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr6:56394513G>T	ENST00000244364.6	-	47	9666	c.9459C>A	c.(9457-9459)ggC>ggA	p.G3153G	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.G3479G|DST_ENST00000370754.5_Silent_p.G5745G|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Silent_p.G5241G|DST_ENST00000370769.4_Silent_p.G5567G|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5565					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.G3153G(1)|p.G5567G(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTAAGGACTGGCCAATGCTAA	0.353																																																2	Substitution - coding silent(2)	kidney(2)											72	69	70					6																	56394513		1858	4099	5957	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.9459C>A	6.37:g.56394513G>T			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000244364.6	37	CCDS47443.1																																																																																				0.353	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	NM_001723		T	56394513	G	T	56394513	2	4	192	1	0	0	0	0	0	0	0	1	4785	1190	42	4		4	DST	6	56394513	Silent	SNP	G	TCGA-B0-5108-01A-01D-1421-08	1603312	56394513	114720554	20	11900											
LAMA4	3910	hgsc.bcm.edu;ucsc.edu	37	6	112522880	112522880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr6:112522880delT	ENST00000230538.7	-	5	829	c.432delA	c.(430-432)gaafs	p.E144fs	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Frame_Shift_Del_p.E144fs|LAMA4_ENST00000424408.2_Frame_Shift_Del_p.E144fs|LAMA4_ENST00000522006.1_Frame_Shift_Del_p.E144fs	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	144	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TATAGCAGGATTCTGCAAAAC	0.358																																																0													192	205	201					6																	112522880		2203	4300	6503	SO:0001589	frameshift_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.432delA	6.37:g.112522880delT	ENSP00000230538:p.Glu144fs		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Frame_Shift_Del	DEL	ENST00000230538.7	37	CCDS43491.1																																																																																				0.358	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		-	112522880	T	-	112522880	7	5	192	1	0	1	0	1	0	0	0	0	8610	1490	52	0	5179	0	LAMA4	6	112522880	Frame_Shift_Del	DEL	T	TCGA-B0-5108-01A-01D-1421-08	56128367	112522880	58592187	21	11901											
RBM16	22828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	155153658	155153658	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr6:155153658C>T	ENST00000367178.3	+	20	3521	c.2945C>T	c.(2944-2946)cCt>cTt	p.P982L	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000367186.4_Missense_Mutation_p.P1048L|SCAF8_ENST00000417268.1_Missense_Mutation_p.P982L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	982	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.P982L(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCAGAAAGACCTTTTTTAGCT	0.448																																																1	Substitution - Missense(1)	kidney(1)											88	95	92					6																	155153658		2203	4300	6503	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2945C>T	6.37:g.155153658C>T	ENSP00000356146:p.Pro982Leu		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117572	0.56505	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.50001	0.8;0.8;0.76	5.59	5.59	0.84812	.	0.077325	0.52532	U	0.000061	T	0.48429	0.1499	L	0.27053	0.805	0.53688	D	0.99997	D;D;D	0.76494	0.958;0.958;0.999	P;P;D	0.66084	0.63;0.63;0.941	T	0.45279	-0.9272	10	0.42905	T	0.14	.	19.5982	0.95549	0.0:1.0:0.0:0.0	.	1027;1048;982	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	L	982;982;1048	ENSP00000356146:P982L;ENSP00000413098:P982L;ENSP00000356154:P1048L	ENSP00000356146:P982L	P	+	2	0	SCAF8	155195350	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.335000	0.52105	2.644000	0.89710	0.561000	0.74099	CCT		0.448	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		T	155153658	C	T	155153658	3	4	192	1	0	0	0	0	1	0	0	0	13124	681	24	2	3023	2	RBM16	6	155153658	Missense_Mutation	SNP	C	TCGA-B0-5108-01A-01D-1421-08	42630778	155153658	15961409	22	11902											
ELN	2006	broad.mit.edu	37	7	73462860	73462860	+	Missense_Mutation	SNP	C	C	T	rs531144748		TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr7:73462860C>T	ENST00000252034.7	+	15	1172	c.773C>T	c.(772-774)gCg>gTg	p.A258V	ELN_ENST00000320492.7_Missense_Mutation_p.A222V|ELN_ENST00000380553.4_Missense_Mutation_p.A141V|ELN_ENST00000445912.1_Missense_Mutation_p.A258V|ELN_ENST00000414324.1_Missense_Mutation_p.A253V|ELN_ENST00000458204.1_Missense_Mutation_p.A248V|ELN_ENST00000320399.6_Missense_Mutation_p.A258V|ELN_ENST00000357036.5_Missense_Mutation_p.A263V|ELN_ENST00000380584.4_Missense_Mutation_p.A244V|ELN_ENST00000380575.4_Missense_Mutation_p.A248V|ELN_ENST00000358929.4_Missense_Mutation_p.A258V|ELN_ENST00000380562.4_Missense_Mutation_p.A258V|ELN_ENST00000380576.5_Missense_Mutation_p.A258V|ELN_ENST00000429192.1_Missense_Mutation_p.A263V	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	258	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.A258V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				gcagcagcagcggcagctaaa	0.612			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						C|||	1	0.000199681	0.0	0.0	5008	,	,		18138	0.0		0.0	False		,,,				2504	0.001						Dom	yes		7	7q11.23	2006	elastin	yes	L	1	Substitution - Missense(1)	kidney(1)											76	80	79					7																	73462860		2203	4300	6503	SO:0001583	missense	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.773C>T	7.37:g.73462860C>T	ENSP00000252034:p.Ala258Val		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	c	5.823	0.336104	0.11013	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000438906;ENST00000438880;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	1.17;1.18;1.22;1.2;0.65;0.65;1.18;1.18;1.18;1.21;1.18;1.17;1.21;1.25;1.22;1.17	.	.	.	.	.	.	.	.	T	0.45357	0.1338	L	0.43923	1.385	0.26495	N	0.974863	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.56521	0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.52309	0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695	T	0.32981	-0.9886	7	0.41790	T	0.15	.	.	.	.	.	258;227;222;253;248;258;248;263;263;258;141;214;244;258	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	258;258;258;222;236;119;253;258;248;244;248;263;263;227;141;258;258	ENSP00000389857:A258V;ENSP00000252034:A258V;ENSP00000351807:A258V;ENSP00000315607:A222V;ENSP00000406949:A236V;ENSP00000389206:A119V;ENSP00000392575:A253V;ENSP00000369936:A258V;ENSP00000369949:A248V;ENSP00000369958:A244V;ENSP00000403162:A248V;ENSP00000349540:A263V;ENSP00000391129:A263V;ENSP00000369926:A141V;ENSP00000369950:A258V;ENSP00000313565:A258V	ENSP00000252034:A258V	A	+	2	0	ELN	73100796	0.122000	0.22280	0.892000	0.35008	0.406000	0.30931	0.947000	0.29082	0.174000	0.19809	0.177000	0.17058	GCG		0.612	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		T	73462860	C	T	73462860	3	4	192	1	0	0	0	0	1	0	0	0	5073	768	27	1	846	1	ELN	7	73462860	Missense_Mutation	SNP	C	TCGA-B0-5108-01A-01D-1421-08		73462860	85675803	23	11903											
FBXO43	286151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	101153613	101153613	+	Missense_Mutation	SNP	G	G	C	rs202229125		TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr8:101153613G>C	ENST00000428847.2	-	2	1185	c.869C>G	c.(868-870)aCa>aGa	p.T290R		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	290					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.T256R(2)|p.T290R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCCACAAGTTGTTCCACTAAC	0.383																																																3	Substitution - Missense(3)	kidney(3)						G	ARG/THR	0,3836		0,0,1918	38	37	37		869	1.4	0	8		37	1,8245		0,1,4122	yes	missense	FBXO43	NM_001029860.3	71	0,1,6040	CC,CG,GG		0.0121,0.0,0.0083	possibly-damaging	290/709	101153613	1,12081	1918	4123	6041	SO:0001583	missense	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.869C>G	8.37:g.101153613G>C	ENSP00000403293:p.Thr290Arg			Missense_Mutation	SNP	ENST00000428847.2	37	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253058	0.22965	0.0	1.21E-4	ENSG00000156509	ENST00000428847	T	0.32753	1.44	5.33	1.39	0.22231	.	1.078290	0.06980	N	0.819746	T	0.36026	0.0952	M	0.66939	2.045	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.002;0.003	T	0.42085	-0.9472	10	0.59425	D	0.04	0.8549	12.7286	0.57185	0.0684:0.5168:0.4149:0.0	.	256;290	C9J908;Q4G163	.;FBX43_HUMAN	R	290	ENSP00000403293:T290R	ENSP00000403293:T290R	T	-	2	0	FBXO43	101222789	0.000000	0.05858	0.000000	0.03702	0.983000	0.72400	-0.213000	0.09305	0.046000	0.15833	0.655000	0.94253	ACA		0.383	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		C	101153613	G	C	101153613	3	2	192	1	0	0	0	0	1	0	0	0	5754	1377	48	4	1273	4	FBXO43	8	101153613	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08		101153613	45210409	24	11904											
UHRF2	115426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	6420934	6420934	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr9:6420934T>C	ENST00000276893.5	+	2	344	c.176T>C	c.(175-177)tTt>tCt	p.F59S	RP11-307L3.4_ENST00000411561.1_RNA|UHRF2_ENST00000381373.3_Missense_Mutation_p.F59S	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	59	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F59S(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TATACCTTATTTGATTATGAT	0.358																																																1	Substitution - Missense(1)	kidney(1)											86	84	85					9																	6420934		2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.176T>C	9.37:g.6420934T>C	ENSP00000276893:p.Phe59Ser		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394948	0.83011	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	T;T	0.70986	-0.53;-0.53	5.46	5.46	0.80206	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	N	0.11870	0.19	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	T	0.78510	-0.2176	10	0.87932	D	0	-17.5353	15.5225	0.75875	0.0:0.0:0.0:1.0	.	59	Q96PU4	UHRF2_HUMAN	S	59	ENSP00000276893:F59S;ENSP00000370778:F59S	ENSP00000276893:F59S	F	+	2	0	UHRF2	6410934	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.879000	0.75572	2.060000	0.61445	0.383000	0.25322	TTT		0.358	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		C	6420934	T	C	6420934	3	2	192	1	0	0	0	0	1	0	0	0	16975	1841	64	3	182	3	UHRF2	9	6420934	Missense_Mutation	SNP	T	TCGA-B0-5108-01A-01D-1421-08		6420934	134792497	25	11905											
PCDH15	65217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	56077194	56077194	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr10:56077194G>T	ENST00000320301.6	-	8	1107	c.713C>A	c.(712-714)gCc>gAc	p.A238D	PCDH15_ENST00000395446.1_Missense_Mutation_p.A238D|PCDH15_ENST00000395442.1_Missense_Mutation_p.A238D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A238D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A238D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A201D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A216D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A243D|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.A238D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A238D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A238D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A216D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A238D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A238D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A238D	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A238D(2)|p.A243D(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGATTTTGGGCACGGTCCTG	0.473										HNSCC(58;0.16)																																						4	Substitution - Missense(4)	kidney(4)											149	119	129					10																	56077194		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.713C>A	10.37:g.56077194G>T	ENSP00000322604:p.Ala238Asp		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234831	0.58886	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58797	2.14;2.14;2.14;2.14;2.14;2.14;2.14;0.31;2.14;2.14;2.14;2.14;2.14;2.14;2.14	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75539	0.3863	M	0.69823	2.125	0.43417	D	0.995569	P;D;P;P;D;D;P;D;P;P;P;D;P;D;P	0.76494	0.952;0.996;0.877;0.771;0.999;0.991;0.955;0.992;0.756;0.756;0.952;0.986;0.803;0.99;0.877	P;D;P;P;D;P;D;D;P;P;P;P;P;P;P	0.76575	0.869;0.968;0.781;0.673;0.988;0.885;0.925;0.943;0.53;0.53;0.842;0.869;0.691;0.891;0.74	T	0.79215	-0.1895	9	0.87932	D	0	.	17.7447	0.88416	0.0:0.0:1.0:0.0	.	216;238;238;243;238;201;238;238;238;238;238;243;238;216;238	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	238;243;238;238;238;238;238;238;201;238;216;216;238;238;243;238;238	ENSP00000363076:A238D;ENSP00000410304:A243D;ENSP00000378826:A238D;ENSP00000378832:A238D;ENSP00000378833:A238D;ENSP00000378829:A238D;ENSP00000378827:A238D;ENSP00000378820:A201D;ENSP00000354950:A238D;ENSP00000378821:A216D;ENSP00000363068:A216D;ENSP00000322604:A238D;ENSP00000378818:A238D;ENSP00000412628:A238D;ENSP00000363066:A238D	ENSP00000322604:A238D	A	-	2	0	PCDH15	55747200	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	6.471000	0.73562	2.346000	0.79739	0.557000	0.71058	GCC		0.473	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		T	56077194	G	T	56077194	3	4	192	1	0	0	0	0	1	0	0	0	11513	1203	42	4	6902	4	PCDH15	10	56077194	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08		56077194	79457553	26	11906											
CD44	960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	35208449	35208449	+	Splice_Site	SNP	T	T	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr11:35208449T>A	ENST00000428726.2	+	4	559		c.e4+2		CD44_ENST00000449691.2_Splice_Site|CD44_ENST00000278386.6_Intron|CD44_ENST00000433892.2_Splice_Site|CD44_ENST00000415148.2_Splice_Site|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Splice_Site|CD44_ENST00000352818.4_Splice_Site|CD44_ENST00000437706.2_Splice_Site|CD44_ENST00000434472.2_Splice_Site|CD44_ENST00000433354.2_Splice_Site|CD44_ENST00000263398.6_Splice_Site	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)						blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.?(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TTACCATAAGTATGTCTCTCT	0.403																																																1	Unknown(1)	kidney(1)											126	118	121					11																	35208449		2202	4298	6500	SO:0001630	splice_region_variant	960			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.436+2T>A	11.37:g.35208449T>A			A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Splice_Site	SNP	ENST00000428726.2	37	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076976	0.36662	.	.	ENSG00000026508	ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000442151;ENST00000525211;ENST00000526000;ENST00000279452;ENST00000527889;ENST00000528455;ENST00000531873;ENST00000531110;ENST00000525685	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8715	0.46885	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD44	35165025	1.000000	0.71417	0.993000	0.49108	0.542000	0.35054	3.374000	0.52402	2.146000	0.66826	0.459000	0.35465	.		0.403	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610	Intron	A	35208449	T	A	35208449	5	1	192	1	0	0	0	0	0	0	1	0	3019	1652	57	5	452	5	CD44	11	35208449	Splice_Site	SNP	T	TCGA-B0-5108-01A-01D-1421-08		35208449	99798067	27	11907											
SLC22A6	9356	broad.mit.edu;hgsc.bcm.edu	37	11	62744780	62744780	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr11:62744780G>A	ENST00000377871.3	-	9	1707	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L481F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	481					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L481F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GAGGGGTAGAGCTCGGCAGTC	0.647																																																1	Substitution - Missense(1)	kidney(1)											76	64	68					11																	62744780		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1441C>T	11.37:g.62744780G>A	ENSP00000367102:p.Leu481Phe		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	5.844	0.339957	0.11069	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871	T;T	0.74106	-0.81;-0.81	4.76	0.552	0.17230	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.440571	0.24287	N	0.039855	T	0.52581	0.1743	N	0.25647	0.755	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.15484	0.013;0.005	T	0.18618	-1.0331	10	0.17832	T	0.49	.	4.3208	0.11016	0.1784:0.0:0.3765:0.4451	.	481;481	Q4U2R8;Q4U2R8-2	S22A6_HUMAN;.	F	481;460;481	ENSP00000353597:L481F;ENSP00000367102:L481F	ENSP00000353597:L481F	L	-	1	0	SLC22A6	62501356	0.000000	0.05858	0.994000	0.49952	0.476000	0.33039	-1.421000	0.02455	0.187000	0.20147	0.561000	0.74099	CTC		0.647	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		A	62744780	G	A	62744780	3	1	192	1	0	0	0	0	1	0	0	0	14464	971	34	2	258	2	SLC22A6	11	62744780	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08	27536331	62744780	72261736	28	11908											
SIK2	23235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111591281	111591281	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr11:111591281C>G	ENST00000304987.3	+	11	1748	c.1575C>G	c.(1573-1575)gaC>gaG	p.D525E	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	525					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.D525E(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTCAGAGGGACCTGAACTTTC	0.473																																																1	Substitution - Missense(1)	kidney(1)											126	123	124					11																	111591281		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1575C>G	11.37:g.111591281C>G	ENSP00000305976:p.Asp525Glu		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766153	0.49574	.	.	ENSG00000170145	ENST00000304987	T	0.73789	-0.78	5.53	2.41	0.29592	.	0.092891	0.64402	N	0.000001	T	0.59824	0.2222	L	0.51422	1.61	0.41062	D	0.985386	B	0.11235	0.004	B	0.10450	0.005	T	0.44436	-0.9328	10	0.09843	T	0.71	.	5.073	0.14617	0.0:0.5609:0.1659:0.2732	.	525	Q9H0K1	SIK2_HUMAN	E	525	ENSP00000305976:D525E	ENSP00000305976:D525E	D	+	3	2	SIK2	111096491	0.848000	0.29623	1.000000	0.80357	0.996000	0.88848	0.019000	0.13444	0.863000	0.35553	0.655000	0.94253	GAC		0.473	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		G	111591281	C	G	111591281	3	3	192	1	0	0	0	0	1	0	0	0	14324	506	18	4	1617	4	SIK2	11	111591281	Missense_Mutation	SNP	C	TCGA-B0-5108-01A-01D-1421-08	48846501	111591281	23415235	29	11909											
IGSF9B	22997	hgsc.bcm.edu	37	11	133802056	133802056	+	Silent	SNP	G	G	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr11:133802056G>T	ENST00000321016.8	-	8	1250	c.1020C>A	c.(1018-1020)atC>atA	p.I340I	IGSF9B_ENST00000533871.2_Silent_p.I340I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	340	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGTAGCCATGGATCCCCACGG	0.607																																																0													58	74	69					11																	133802056		2176	4260	6436	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1020C>A	11.37:g.133802056G>T			G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																					0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		T	133802056	G	T	133802056	2	4	192	1	0	0	0	0	0	0	0	1	7608	1164	41	4		4	IGSF9B	11	133802056	Silent	SNP	G	TCGA-B0-5108-01A-01D-1421-08	22210775	133802056	1204460	30	11910											
PLBD1	79887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14656715	14656715	+	Silent	SNP	A	A	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr12:14656715A>G	ENST00000240617.5	-	11	2305	c.1653T>C	c.(1651-1653)gaT>gaC	p.D551D		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	551					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.D551D(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTCATTTTATATCAAGTTTCA	0.358																																																1	Substitution - coding silent(1)	kidney(1)											96	96	96					12																	14656715		2203	4300	6503	SO:0001819	synonymous_variant	79887			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1653T>C	12.37:g.14656715A>G			A8K4E9|Q9BVV3|Q9H625	Silent	SNP	ENST00000240617.5	37	CCDS31751.1																																																																																				0.358	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		G	14656715	A	G	14656715	2	3	192	1	0	0	0	0	0	0	0	1	12027	446	16	3		3	PLBD1	12	14656715	Silent	SNP	A	TCGA-B0-5108-01A-01D-1421-08		14656715	119195180	31	11911											
GUCY2C	2984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14832651	14832651	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr12:14832651T>A	ENST00000261170.3	-	6	906	c.770A>T	c.(769-771)aAg>aTg	p.K257M	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	257					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.K257M(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACCCTTCAGCTTGTAGAGGAA	0.423																																																1	Substitution - Missense(1)	kidney(1)											149	133	138					12																	14832651		2203	4300	6503	SO:0001583	missense	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.770A>T	12.37:g.14832651T>A	ENSP00000261170:p.Lys257Met		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.753878	0.31046	.	.	ENSG00000070019	ENST00000261170	T	0.73789	-0.78	5.57	-9.94	0.00449	Extracellular ligand-binding receptor (1);	2.095880	0.01418	N	0.014244	T	0.51432	0.1674	N	0.08118	0	0.09310	N	1	B	0.33000	0.393	B	0.37780	0.258	T	0.56080	-0.8038	10	0.56958	D	0.05	.	4.2012	0.10467	0.0727:0.2758:0.3125:0.3391	.	257	P25092	GUC2C_HUMAN	M	257	ENSP00000261170:K257M	ENSP00000261170:K257M	K	-	2	0	GUCY2C	14723918	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.754000	0.00790	-2.146000	0.00800	-1.234000	0.01563	AAG		0.423	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			A	14832651	T	A	14832651	3	1	192	1	0	0	0	0	1	0	0	0	6898	1609	56	5	2539	5	GUCY2C	12	14832651	Missense_Mutation	SNP	T	TCGA-B0-5108-01A-01D-1421-08	175936	14832651	119019244	32	11912											
MLL2	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49420872	49420872	+	Silent	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr12:49420872G>C	ENST00000301067.7	-	48	14876	c.14877C>G	c.(14875-14877)gcC>gcG	p.A4959A		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4959	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A4689A(1)|p.A4959A(1)									GCTTGGGTCGGGCTGATTCAG	0.637																																																2	Substitution - coding silent(2)	kidney(2)											52	60	57					12																	49420872		1928	4135	6063	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14877C>G	12.37:g.49420872G>C			O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49420872	G	C	49420872	2	2	192	1	0	0	0	0	0	0	0	1	9623	1219	43	4		4	MLL2	12	49420872	Silent	SNP	G	TCGA-B0-5108-01A-01D-1421-08	34588221	49420872	84431023	33	11913											
SRGAP1	57522	hgsc.bcm.edu;ucsc.edu	37	12	64472751	64472752	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr12:64472751_64472752insC	ENST00000355086.3	+	9	1702_1703	c.1178_1179insC	c.(1177-1182)atcgagfs	p.E394fs	SRGAP1_ENST00000357825.3_Frame_Shift_Ins_p.E394fs|SRGAP1_ENST00000543397.1_Frame_Shift_Ins_p.E354fs|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	394	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGGTCACCATCGAGGACTATG	0.431																																																0																																										SO:0001589	frameshift_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1179dupC	12.37:g.64472752_64472752dupC	ENSP00000347198:p.Glu394fs		Q9H8A3|Q9P2P2	Frame_Shift_Ins	INS	ENST00000355086.3	37	CCDS8967.1																																																																																				0.431	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			C	64472752	-	C	64472751	7	5	192	1	0	1	1	0	0	0	0	0	15150	1435	50	0	1212	0	SRGAP1	12	64472751	Frame_Shift_Ins	INS	-	TCGA-B0-5108-01A-01D-1421-08	15051879	64472751	69379144	34	11914											
C12orf51	283450	hgsc.bcm.edu;ucsc.edu	37	12	112650435	112650435	+	Silent	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr12:112650435G>C	ENST00000430131.2	-	48	7364	c.6219C>G	c.(6217-6219)ggC>ggG	p.G2073G	HECTD4_ENST00000550722.1_Silent_p.G2349G|HECTD4_ENST00000377560.5_Silent_p.G2323G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2073					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTCTCTCCCAGCCAATTCCTG	0.507																																																0													35	37	37					12																	112650435		1883	4116	5999	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6219C>G	12.37:g.112650435G>C			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	8.870	0.948953	0.18356	.	.	ENSG00000173064	ENST00000550968	.	.	.	5.92	5.03	0.67393	.	.	.	.	.	T	0.54743	0.1877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52609	-0.8553	4	.	.	.	.	5.6279	0.17492	0.1987:0.0:0.6432:0.1581	.	.	.	.	G	240	.	.	A	-	2	0	C12orf51	111134818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.689000	0.25437	2.805000	0.96524	0.655000	0.94253	GCT		0.507	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		C	112650435	G	C	112650435	2	2	192	1	0	0	0	0	0	0	0	1	1698	958	34	4		4	C12orf51	12	112650435	Silent	SNP	G	TCGA-B0-5108-01A-01D-1421-08	48177684	112650435	21201460	35	11915											
FREM2	341640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	39420850	39420850	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr13:39420850T>C	ENST00000280481.7	+	7	6376	c.6160T>C	c.(6160-6162)Tct>Cct	p.S2054P	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2054	Calx-beta 3.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2054P(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGATCCTCCCTCTGCAGATGG	0.463																																																1	Substitution - Missense(1)	kidney(1)											167	149	155					13																	39420850		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6160T>C	13.37:g.39420850T>C	ENSP00000280481:p.Ser2054Pro		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.768517	0.49680	.	.	ENSG00000150893	ENST00000280481	T	0.33216	1.42	5.33	5.33	0.75918	Na-Ca exchanger/integrin-beta4 (2);	0.056676	0.64402	D	0.000001	T	0.60856	0.2301	M	0.91090	3.175	0.58432	D	0.999999	D;P	0.69078	0.997;0.635	D;P	0.69479	0.964;0.461	T	0.69587	-0.5105	10	0.87932	D	0	.	11.4115	0.49929	0.143:0.0:0.0:0.857	.	2054;2054	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	P	2054	ENSP00000280481:S2054P	ENSP00000280481:S2054P	S	+	1	0	FREM2	38318850	1.000000	0.71417	0.301000	0.25044	0.013000	0.08279	5.188000	0.65093	2.157000	0.67596	0.533000	0.62120	TCT		0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		C	39420850	T	C	39420850	3	2	192	1	0	0	0	0	1	0	0	0	6047	1551	54	3	6186	3	FREM2	13	39420850	Missense_Mutation	SNP	T	TCGA-B0-5108-01A-01D-1421-08		39420850	75749028	36	11916											
TGM1	7051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24731316	24731316	+	Silent	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr14:24731316G>A	ENST00000206765.6	-	2	366	c.243C>T	c.(241-243)ggC>ggT	p.G81G	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	81	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G81G(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGCCCCGGGAGCCAGGTCTTC	0.652																																																1	Substitution - coding silent(1)	kidney(1)											43	53	50					14																	24731316		2203	4300	6503	SO:0001819	synonymous_variant	7051			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.243C>T	14.37:g.24731316G>A			B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	CCDS9622.1																																																																																				0.652	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		A	24731316	G	A	24731316	2	1	192	1	0	0	0	0	0	0	0	1	15834	958	34	2		2	TGM1	14	24731316	Silent	SNP	G	TCGA-B0-5108-01A-01D-1421-08		24731316	82618224	37	11917											
SOS2	6655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	50626575	50626575	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr14:50626575T>G	ENST00000216373.5	-	10	1700	c.1426A>C	c.(1426-1428)Act>Cct	p.T476P	SOS2_ENST00000543680.1_Missense_Mutation_p.T443P|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	476	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T476P(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGAAGCCGAGTCTGGCCATGA	0.378																																																2	Substitution - Missense(2)	kidney(2)											142	139	140					14																	50626575		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1426A>C	14.37:g.50626575T>G	ENSP00000216373:p.Thr476Pro		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	3.553	-0.091353	0.07053	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.79247	-1.25;-1.12	5.87	4.72	0.59763	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.149498	0.64402	D	0.000006	T	0.58779	0.2146	N	0.11255	0.115	0.53688	D	0.999978	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.52253	-0.8600	10	0.36615	T	0.2	.	9.9047	0.41368	0.7693:0.0:0.0:0.2307	.	443;506;476	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	P	476;443	ENSP00000216373:T476P;ENSP00000445328:T443P	ENSP00000216373:T476P	T	-	1	0	SOS2	49696325	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.599000	0.54045	1.042000	0.40150	0.528000	0.53228	ACT		0.378	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			G	50626575	T	G	50626575	3	3	192	1	0	0	0	0	1	0	0	0	14943	1667	58	5	2628	5	SOS2	14	50626575	Missense_Mutation	SNP	T	TCGA-B0-5108-01A-01D-1421-08	25895259	50626575	56722965	38	11918											
DYNC1LI2	1783	hgsc.bcm.edu	37	16	66761652	66761653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr16:66761652_66761653insG	ENST00000258198.2	-	11	1405_1406	c.1199_1200insC	c.(1198-1200)ccafs	p.P400fs	RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000570201.1_5'Flank|DYNC1LI2_ENST00000443351.2_Frame_Shift_Ins_p.P323fs|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	400					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GCACACTGGCTGGCCCTCCCCG	0.51																																																0																																										SO:0001589	frameshift_variant	1783			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1200dupC	16.37:g.66761654_66761654dupG	ENSP00000258198:p.Pro400fs		A8K6V1|B4DZP4|Q8TAT3	Frame_Shift_Ins	INS	ENST00000258198.2	37	CCDS10818.1																																																																																				0.51	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		G	66761653	-	G	66761652	7	5	192	1	0	1	1	0	0	0	0	0	4847	1567	55	0	290	0	DYNC1LI2	16	66761652	Frame_Shift_Ins	INS	-	TCGA-B0-5108-01A-01D-1421-08		66761652	23593101	39	11919											
KRT16	3868	broad.mit.edu	37	17	39768515	39768515	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr17:39768515G>C	ENST00000301653.4	-	1	490	c.426C>G	c.(424-426)aaC>aaG	p.N142K		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	142	Coil 1A.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.N142K(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCAGGTCGGCGTTGGCCTCCT	0.582																																																1	Substitution - Missense(1)	kidney(1)											75	86	83					17																	39768515		2202	4278	6480	SO:0001583	missense	3868			S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.426C>G	17.37:g.39768515G>C	ENSP00000301653:p.Asn142Lys		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829308	0.32329	.	.	ENSG00000186832	ENST00000301653	D	0.97959	-4.63	4.8	-0.65	0.11457	Filament (1);	0.000000	0.56097	D	0.000029	D	0.98782	0.9590	H	0.95224	3.64	0.27235	N	0.959285	D	0.89917	1.0	D	0.85130	0.997	D	0.96014	0.9004	10	0.87932	D	0	.	10.3742	0.44073	0.4869:0.0:0.5131:0.0	.	142	P08779	K1C16_HUMAN	K	142	ENSP00000301653:N142K	ENSP00000301653:N142K	N	-	3	2	KRT16	37022041	0.001000	0.12720	0.038000	0.18304	0.285000	0.27093	-0.084000	0.11268	-0.129000	0.11620	-0.258000	0.10820	AAC		0.582	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		C	39768515	G	C	39768515	3	2	192	1	0	0	0	0	1	0	0	0	8455	1136	40	4	1027	4	KRT16	17	39768515	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08		39768515	41426695	40	11920											
ASXL3	80816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	31318800	31318800	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr18:31318800G>A	ENST00000269197.5	+	11	1432	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E478K(1)|p.E185K(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAATTTTCTGAGGAGGCTGA	0.388																																																2	Substitution - Missense(2)	kidney(2)											45	46	45					18																	31318800		1852	4088	5940	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1432G>A	18.37:g.31318800G>A	ENSP00000269197:p.Glu478Lys		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874092	0.51695	.	.	ENSG00000141431	ENST00000269197	T	0.17854	2.25	5.2	4.32	0.51571	.	1.633670	0.03598	N	0.232966	T	0.23572	0.0570	L	0.49350	1.555	0.37103	D	0.89996	P	0.43750	0.816	B	0.43809	0.432	T	0.16394	-1.0404	10	0.27082	T	0.32	.	10.6473	0.45628	0.0735:0.1337:0.7928:0.0	.	478	Q9C0F0	ASXL3_HUMAN	K	478	ENSP00000269197:E478K	ENSP00000269197:E478K	E	+	1	0	ASXL3	29572798	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	3.185000	0.50934	2.580000	0.87095	0.467000	0.42956	GAG		0.388	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			A	31318800	G	A	31318800	3	1	192	1	0	0	0	0	1	0	0	0	1068	1291	45	2	1474	2	ASXL3	18	31318800	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08		31318800	46758448	41	11921											
APC2	10297	broad.mit.edu	37	19	1456344	1456344	+	Missense_Mutation	SNP	C	C	A	rs555858661		TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:1456344C>A	ENST00000535453.1	+	7	2470	c.757C>A	c.(757-759)Ccc>Acc	p.P253T	APC2_ENST00000233607.2_Missense_Mutation_p.P253T|APC2_ENST00000238483.4_Intron|CTB-25B13.12_ENST00000588225.1_RNA			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)	p.P253T(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACGAGGACCCCGAGACAGA	0.682																																																1	Substitution - Missense(1)	kidney(1)											31	32	32					19																	1456344		2192	4295	6487	SO:0001583	missense	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.757C>A	19.37:g.1456344C>A	ENSP00000442954:p.Pro253Thr		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	0.879	-0.729364	0.03135	.	.	ENSG00000115266	ENST00000233607;ENST00000535453	D;D	0.91996	-2.95;-2.95	4.34	0.742	0.18341	.	1.304180	0.05110	N	0.488812	T	0.75398	0.3844	N	0.02011	-0.69	0.09310	N	0.999998	B;B	0.29037	0.231;0.003	B;B	0.25405	0.06;0.003	T	0.71314	-0.4630	10	0.02654	T	1	-10.7062	7.0804	0.25227	0.0:0.5668:0.3337:0.0996	.	252;253	O95996-3;O95996	.;APC2_HUMAN	T	253	ENSP00000233607:P253T;ENSP00000442954:P253T	ENSP00000233607:P253T	P	+	1	0	APC2	1407344	0.002000	0.14202	0.061000	0.19648	0.230000	0.25150	1.538000	0.36094	0.935000	0.37341	0.455000	0.32223	CCC		0.682	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		A	1456344	C	A	1456344	3	1	192	1	0	0	0	0	1	0	0	0	764	623	22	4	783	4	APC2	19	1456344	Missense_Mutation	SNP	C	TCGA-B0-5108-01A-01D-1421-08		1456344	57672639	42	11922											
C3	718	broad.mit.edu	37	19	6694615	6694615	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:6694615G>C	ENST00000245907.6	-	24	3073	c.2981C>G	c.(2980-2982)gCc>gGc	p.A994G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	994					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.A994G(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGCGTCGACGGCATCCTCTGT	0.627																																																1	Substitution - Missense(1)	kidney(1)											53	46	48					19																	6694615		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2981C>G	19.37:g.6694615G>C	ENSP00000245907:p.Ala994Gly		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640844	0.47153	.	.	ENSG00000125730	ENST00000245907	T	0.36699	1.24	5.77	5.77	0.91146	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.270324	0.41938	D	0.000789	T	0.50480	0.1618	M	0.86953	2.85	0.48632	D	0.99968	B	0.20261	0.043	B	0.23852	0.049	T	0.53627	-0.8412	10	0.87932	D	0	.	18.7735	0.91901	0.0:0.0:1.0:0.0	.	994	P01024	CO3_HUMAN	G	994	ENSP00000245907:A994G	ENSP00000245907:A994G	A	-	2	0	C3	6645615	1.000000	0.71417	0.497000	0.27552	0.176000	0.22953	5.916000	0.69981	2.733000	0.93635	0.655000	0.94253	GCC		0.627	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		C	6694615	G	C	6694615	3	2	192	1	0	0	0	0	1	0	0	0	2206	1203	42	4	2082	4	C3	19	6694615	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08	5238271	6694615	52434368	43	11923											
ZNF302	55900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35175869	35175869	+	Silent	SNP	A	A	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:35175869A>G	ENST00000446502.2	+	6	1267	c.1059A>G	c.(1057-1059)caA>caG	p.Q353Q	ZNF302_ENST00000423823.2_Silent_p.Q309Q|ZNF302_ENST00000505242.1_Silent_p.Q309Q|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Silent_p.Q309Q			Q9NR11	ZN302_HUMAN	zinc finger protein 302	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q309Q(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCATACGCAAGAAAAACGCT	0.418																																																1	Substitution - coding silent(1)	kidney(1)											65	66	65					19																	35175869		2203	4300	6503	SO:0001819	synonymous_variant	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"Zinc fingers, C2H2-type", "-"	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1059A>G	19.37:g.35175869A>G			Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37																																																																																					0.418	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			G	35175869	A	G	35175869	2	3	192	1	0	0	0	0	0	0	0	1	17837	69	3	3		3	ZNF302	19	35175869	Silent	SNP	A	TCGA-B0-5108-01A-01D-1421-08	28481254	35175869	23953114	44	11924											
MEGF8	1954	hgsc.bcm.edu	37	19	42830478	42830478	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:42830478G>C	ENST00000251268.6	+	1	83	c.83G>C	c.(82-84)gGg>gCg	p.G28A	MEGF8_ENST00000334370.4_Missense_Mutation_p.G28A	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	28					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCCGGGCGGGGGACTGCAAG	0.687											OREG0025502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													16	22	20					19																	42830478		2023	4165	6188	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.83G>C	19.37:g.42830478G>C	ENSP00000251268:p.Gly28Ala	911	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	32	5.167803	0.94768	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20200	2.09;2.09	5.46	5.46	0.80206	.	.	.	.	.	T	0.31420	0.0796	L	0.33485	1.01	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.01998	-1.1232	9	0.02654	T	1	-10.8816	16.7877	0.85578	0.0:0.0:1.0:0.0	.	28	Q7Z7M0-2	.	A	28	ENSP00000334219:G28A;ENSP00000251268:G28A	ENSP00000251268:G28A	G	+	2	0	MEGF8	47522318	1.000000	0.71417	0.989000	0.46669	0.907000	0.53573	8.535000	0.90623	2.562000	0.86427	0.551000	0.68910	GGG		0.687	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		C	42830478	G	C	42830478	3	2	192	1	0	0	0	0	1	0	0	0	9465	1232	43	4	85	4	MEGF8	19	42830478	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08	7654609	42830478	16298505	45	11925											
ZNF528	84436	hgsc.bcm.edu;ucsc.edu	37	19	52918827	52918827	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:52918827delA	ENST00000360465.3	+	7	1148	c.722delA	c.(721-723)tacfs	p.Y241fs	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAGAAGCCTTACAAATGTCAT	0.388																																																0													86	84	85					19																	52918827		2203	4300	6503	SO:0001589	frameshift_variant	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.722delA	19.37:g.52918827delA	ENSP00000353652:p.Tyr241fs		B3KPN4|Q86T88|Q96JK0	Frame_Shift_Del	DEL	ENST00000360465.3	37	CCDS33091.1																																																																																				0.388	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		-	52918827	A	-	52918827	7	5	192	1	0	1	0	1	0	0	0	0	17974	391	14	0	736	0	ZNF528	19	52918827	Frame_Shift_Del	DEL	A	TCGA-B0-5108-01A-01D-1421-08	10088349	52918827	6210156	46	11926											
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57326087	57326087	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:57326087A>C	ENST00000326441.9	-	10	4086	c.3723T>G	c.(3721-3723)aaT>aaG	p.N1241K	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.N1115K|PEG3_ENST00000423103.2_Missense_Mutation_p.N1241K|PEG3_ENST00000598410.1_Missense_Mutation_p.N1117K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1241					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N1241K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATATGCTCATTAAGGGCAG	0.498																																																2	Substitution - Missense(2)	kidney(2)											54	49	51					19																	57326087		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3723T>G	19.37:g.57326087A>C	ENSP00000326581:p.Asn1241Lys		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	9.174	1.021820	0.19433	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.26518	1.73;1.73	4.06	-5.01	0.02991	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.478580	0.04041	N	0.303025	T	0.13329	0.0323	N	0.17631	0.505	.	.	.	B;P;P	0.43938	0.011;0.822;0.822	B;B;B	0.40702	0.016;0.338;0.338	T	0.18461	-1.0336	9	0.05959	T	0.93	-5.6957	8.1213	0.30974	0.1959:0.3711:0.433:0.0	.	1117;1241;1176	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	1241	ENSP00000326581:N1241K;ENSP00000403051:N1241K	ENSP00000326581:N1241K	N	-	3	2	ZIM2	62017899	0.000000	0.05858	0.000000	0.03702	0.987000	0.75469	-0.914000	0.04038	-1.321000	0.02281	-0.250000	0.11733	AAT		0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			C	57326087	A	C	57326087	3	2	192	1	0	0	0	0	1	0	0	0	11722	214	8	5	1047	5	PEG3	19	57326087	Missense_Mutation	SNP	A	TCGA-B0-5108-01A-01D-1421-08	4407260	57326087	1802896	47	11927											
PLCB4	5332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	9374306	9374306	+	Silent	SNP	G	G	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr20:9374306G>T	ENST00000378493.1	+	15	1410	c.1395G>T	c.(1393-1395)ctG>ctT	p.L465L	PLCB4_ENST00000278655.4_Silent_p.L465L|PLCB4_ENST00000334005.3_Silent_p.L465L|PLCB4_ENST00000378501.2_Silent_p.L465L|PLCB4_ENST00000414679.2_Silent_p.L465L|PLCB4_ENST00000378473.3_Silent_p.L465L|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	465					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.L465L(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACAAGCGGCTGAAACCTGAAG	0.363											OREG0025771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											54	56	55					20																	9374306		2203	4300	6503	SO:0001819	synonymous_variant	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1395G>T	20.37:g.9374306G>T		656	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	CCDS13105.1																																																																																				0.363	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			T	9374306	G	T	9374306	2	4	192	1	0	0	0	0	0	0	0	1	12032	1277	45	4		4	PLCB4	20	9374306	Silent	SNP	G	TCGA-B0-5108-01A-01D-1421-08		9374306	53651214	48	11928											
NINL	22981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	25442206	25442206	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr20:25442206C>A	ENST00000278886.6	-	21	3721	c.3648G>T	c.(3646-3648)caG>caT	p.Q1216H	NINL_ENST00000464285.1_5'Flank|NINL_ENST00000422516.1_Missense_Mutation_p.Q867H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1216					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.Q1216H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACCATGGCAGCTGCAGGCTCT	0.498																																																1	Substitution - Missense(1)	kidney(1)											177	152	161					20																	25442206		2203	4300	6503	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3648G>T	20.37:g.25442206C>A	ENSP00000278886:p.Gln1216His		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	7.164	0.586218	0.13749	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.33654	1.67;1.4	5.33	-0.848	0.10727	.	0.681914	0.14237	N	0.332312	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B;P	0.41748	0.167;0.761	B;B	0.34824	0.128;0.19	T	0.14254	-1.0479	10	0.62326	D	0.03	-0.2719	5.4055	0.16318	0.1483:0.4247:0.0:0.427	.	867;1216	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	H	1216;867	ENSP00000278886:Q1216H;ENSP00000410431:Q867H	ENSP00000278886:Q1216H	Q	-	3	2	NINL	25390206	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.504000	0.06375	-0.180000	0.10637	-0.351000	0.07748	CAG		0.498	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		A	25442206	C	A	25442206	3	1	192	1	0	0	0	0	1	0	0	0	10422	796	28	4	516	4	NINL	20	25442206	Missense_Mutation	SNP	C	TCGA-B0-5108-01A-01D-1421-08	16067900	25442206	37583314	49	11929											
ASXL1	171023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31025137	31025137	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr20:31025137G>C	ENST00000375687.4	+	13	5046	c.4622G>C	c.(4621-4623)aGa>aCa	p.R1541T	ASXL1_ENST00000306058.5_Missense_Mutation_p.R1536T	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1541					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1541T(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTGTGGTGAGATAATAAATT	0.383			"F, N, Mis"		"MDS, CMML"																																		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Missense(1)	kidney(1)											139	128	132					20																	31025137		2203	4300	6503	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4622G>C	20.37:g.31025137G>C	ENSP00000364839:p.Arg1541Thr		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343042	0.82022	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.56275	0.49;0.47	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	N	0.08118	0	0.50039	D	0.999843	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.66500	-0.5908	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1536;1541	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	T	1541;1541;1541;1462;1536	ENSP00000364839:R1541T;ENSP00000305119:R1536T	ENSP00000305119:R1536T	R	+	2	0	ASXL1	30488798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.021000	0.93673	2.941000	0.99782	0.655000	0.94253	AGA		0.383	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		C	31025137	G	C	31025137	3	2	192	1	0	0	0	0	1	0	0	0	1066	942	33	4	4678	4	ASXL1	20	31025137	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08	5582931	31025137	32000383	50	11930											
MIOX	55586	broad.mit.edu	37	22	50926751	50926751	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr22:50926751G>A	ENST00000216075.6	+	5	462	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	MIOX_ENST00000395733.3_Nonsense_Mutation_p.W140*|MIOX_ENST00000395732.3_Missense_Mutation_p.A130T	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	130					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)	p.A130T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGGTCCTGGCCCTGTTCGG	0.662																																																1	Substitution - Missense(1)	kidney(1)											58	59	59					22																	50926751		2203	4300	6503	SO:0001583	missense	55586			AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"kidney-specific protein 32"	606774	"aldehyde reductase (aldose reductase) like 6"	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.388G>A	22.37:g.50926751G>A	ENSP00000216075:p.Ala130Thr		Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	ENST00000216075.6	37	CCDS14092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.416903|5.416903	0.96092|0.96092	.|.	.|.	ENSG00000100253|ENSG00000100253	ENST00000216075;ENST00000395732;ENST00000451761|ENST00000395733	.|.	.|.	.|.	4.29|4.29	3.23|3.23	0.37069|0.37069	.|.	0.232106|.	0.42548|.	D|.	0.000683|.	T|.	0.61800|.	0.2376|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;B|.	0.47350|.	0.894;0.103|.	P;B|.	0.51742|.	0.678;0.151|.	T|.	0.60337|.	-0.7283|.	9|.	0.23302|0.38643	T|T	0.38|0.18	-0.0247|-0.0247	10.3413|10.3413	0.43879|0.43879	0.102:0.0:0.898:0.0|0.102:0.0:0.898:0.0	.|.	130;130|.	A6PVH2;Q9UGB7|.	.;MIOX_HUMAN|.	T|X	130;130;125|140	.|.	ENSP00000216075:A130T|ENSP00000379082:W140X	A|W	+|+	1|3	0|0	MIOX|MIOX	49273617|49273617	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.913000|0.913000	0.54294|0.54294	5.715000|5.715000	0.68430|0.68430	2.203000|2.203000	0.70933|0.70933	0.436000|0.436000	0.28706|0.28706	GCC|TGG		0.662	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584		A	50926751	G	A	50926751	3	1	192	1	0	0	0	0	1	0	0	0	9592	1203	42	2	406	2	MIOX	22	50926751	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08		50926751	377815	51	11931											
KDM5C	8242	broad.mit.edu;ucsc.edu	37	X	53230876	53230877	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chrX:53230876_53230877insT	ENST00000375401.3	-	14	2448_2449	c.1916_1917insA	c.(1915-1917)tacfs	p.Y639fs	KDM5C_ENST00000452825.3_Frame_Shift_Ins_p.Y572fs|KDM5C_ENST00000404049.3_Frame_Shift_Ins_p.Y638fs|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Frame_Shift_Ins_p.Y639fs|KDM5C_ENST00000375383.3_Frame_Shift_Ins_p.Y598fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	639					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGAAGACGCAGTATCTCCGGAG	0.579			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0																																										SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1917dupA	X.37:g.53230877_53230877dupT	ENSP00000364550:p.Tyr639fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Ins	INS	ENST00000375401.3	37	CCDS14351.1																																																																																				0.579	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		T	53230877	-	T	53230876	7	5	192	1	0	1	1	0	0	0	0	0	8137	1024	36	0	2915	0	KDM5C	23	53230876	Frame_Shift_Ins	INS	-	TCGA-B0-5108-01A-01D-1421-08		53230876	102039684	52	11932											
BHLHB9	80823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	102005104	102005104	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chrX:102005104G>T	ENST00000372735.1	+	4	1766	c.1181G>T	c.(1180-1182)gGg>gTg	p.G394V	BHLHB9_ENST00000361229.4_Missense_Mutation_p.G394V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.G394V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.G394V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.G394V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	394					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.G394V(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCTCCTTCTGGGGATGAAAGA	0.378																																																1	Substitution - Missense(1)	kidney(1)											79	70	73					X																	102005104		2203	4300	6503	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1181G>T	X.37:g.102005104G>T	ENSP00000361820:p.Gly394Val		Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	4.453	0.083831	0.08583	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.44	-0.486	0.12064	Armadillo-type fold (1);	0.767584	0.11109	N	0.598748	T	0.11067	0.0270	N	0.08118	0	0.25228	N	0.989859	B	0.06786	0.001	B	0.09377	0.004	T	0.28870	-1.0030	9	.	.	.	-17.3824	0.5186	0.00608	0.2059:0.1668:0.3114:0.316	.	394	Q6PI77	BHLH9_HUMAN	V	394	ENSP00000403226:G394V;ENSP00000354675:G394V;ENSP00000405893:G394V;ENSP00000391722:G394V;ENSP00000361820:G394V	.	G	+	2	0	BHLHB9	101891760	0.984000	0.35163	0.275000	0.24674	0.946000	0.59487	-0.016000	0.12613	-0.260000	0.09418	-0.508000	0.04489	GGG		0.378	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		T	102005104	G	T	102005104	3	4	192	1	0	0	0	0	1	0	0	0	1420	1232	43	4	1183	4	BHLHB9	23	102005104	Missense_Mutation	SNP	G	TCGA-B0-5108-01A-01D-1421-08	48774228	102005104	53265456	53	11933											
MEGF6	1953	hgsc.bcm.edu	37	1	3413839	3413840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr1:3413839_3413840insG	ENST00000356575.4	-	27	3664_3665	c.3438_3439insC	c.(3436-3441)gcctgcfs	p.C1147fs	MEGF6_ENST00000294599.4_Frame_Shift_Ins_p.C956fs	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1147	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGACAGCGGCAGGCCCCAGTGA	0.708																																					Ovarian(73;978 3658)											0																																										SO:0001589	frameshift_variant	1953			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3439dupC	1.37:g.3413841_3413841dupG	ENSP00000348982:p.Cys1147fs		Q4AC86|Q5VV39	Frame_Shift_Ins	INS	ENST00000356575.4	37	CCDS41237.1																																																																																				0.708	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		G	3413840	-	G	3413839	7	5	193	1	0	1	1	0	0	0	0	0	9464	188	7	0	1230	0	MEGF6	1	3413839	Frame_Shift_Ins	INS	-	TCGA-B0-5109-01A-02D-1421-08		3413839	245836782	1	11934											
PI4KB	5298	broad.mit.edu;hgsc.bcm.edu	37	1	151288136	151288136	+	Silent	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr1:151288136G>A	ENST00000368873.1	-	2	990	c.822C>T	c.(820-822)cgC>cgT	p.R274R	PI4KB_ENST00000271657.5_Silent_p.R286R|PI4KB_ENST00000368875.2_Silent_p.R286R|PI4KB_ENST00000368872.1_Silent_p.R274R|PI4KB_ENST00000368874.4_Silent_p.R274R|PI4KB_ENST00000529142.1_Intron			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	274					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.R286R(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGACTTAGAGCGCTGGTGAG	0.547																																					Colon(154;765 1838 9854 28443 37492)											1	Substitution - coding silent(1)	kidney(1)											121	112	115					1																	151288136		2203	4300	6503	SO:0001819	synonymous_variant	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.822C>T	1.37:g.151288136G>A			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37																																																																																					0.547	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		A	151288136	G	A	151288136	2	1	193	1	0	0	0	0	0	0	0	1	11876	958	34	2		2	PI4KB	1	151288136	Silent	SNP	G	TCGA-B0-5109-01A-02D-1421-08	147874297	151288136	97962485	2	11935											
ILDR2	387597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	166908755	166908755	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr1:166908755C>T	ENST00000271417.3	-	4	607	c.552G>A	c.(550-552)atG>atA	p.M184I	ILDR2_ENST00000469934.2_Missense_Mutation_p.M184I|ILDR2_ENST00000528703.1_Missense_Mutation_p.M184I|ILDR2_ENST00000529071.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.M184I	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	184					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.M184I(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GAATACCTGGCATAATCTCCA	0.423																																																1	Substitution - Missense(1)	kidney(1)											111	95	100					1																	166908755		2203	4300	6503	SO:0001583	missense	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.552G>A	1.37:g.166908755C>T	ENSP00000271417:p.Met184Ile			Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982259	0.74474	.	.	ENSG00000143195	ENST00000271417;ENST00000469934;ENST00000526687;ENST00000528703	T;T;T;T	0.77620	0.3;0.4;-1.11;-0.17	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84871	0.5568	L	0.59436	1.845	0.58432	D	0.999995	D	0.63880	0.993	D	0.70227	0.968	T	0.83253	-0.0052	10	0.52906	T	0.07	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	184	Q71H61	ILDR2_HUMAN	I	184	ENSP00000271417:M184I;ENSP00000437008:M184I;ENSP00000434273:M184I;ENSP00000432750:M184I	ENSP00000271417:M184I	M	-	3	0	ILDR2	165175379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.912000	0.75753	2.885000	0.99019	0.655000	0.94253	ATG		0.423	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		T	166908755	C	T	166908755	3	4	193	1	0	0	0	0	1	0	0	0	7712	710	25	2	1395	2	ILDR2	1	166908755	Missense_Mutation	SNP	C	TCGA-B0-5109-01A-02D-1421-08	15620619	166908755	82341866	3	11936											
ZNF670	93474	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247202840	247202840	+	Splice_Site	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr1:247202840C>T	ENST00000366503.2	-	2	162		c.e2-1			NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ACACTGAATCCTAGAATATCG	0.418																																																1	Unknown(1)	kidney(1)											99	93	95					1																	247202840		2203	4300	6503	SO:0001630	splice_region_variant	93474				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"Zinc fingers, C2H2-type", "-"	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.4-1G>A	1.37:g.247202840C>T				Splice_Site	SNP	ENST00000366503.2	37	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	C	6.267	0.417336	0.11870	.	.	ENSG00000135747	ENST00000366503	.	.	.	0.46	0.46	0.16684	.	.	.	.	.	.	.	.	.	.	.	0.30604	N	0.760221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7268	0.23361	0.0:0.9999:0.0:1.0E-4	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF670	245269463	0.761000	0.28439	0.026000	0.17262	0.142000	0.21351	2.188000	0.42612	0.495000	0.27882	0.298000	0.19748	.		0.418	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213	Intron	T	247202840	C	T	247202840	5	4	193	1	0	0	0	0	0	0	1	0	18082	695	24	2	1178	2	ZNF670	1	247202840	Splice_Site	SNP	C	TCGA-B0-5109-01A-02D-1421-08	80294085	247202840	2047781	4	11937											
SPHKAP	80309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228881360	228881360	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr2:228881360C>G	ENST00000392056.3	-	7	4256	c.4210G>C	c.(4210-4212)Gaa>Caa	p.E1404Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1404Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1404						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.E1404Q(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGAAGTTTCTTTTTTAGAA	0.448																																																2	Substitution - Missense(2)	kidney(2)											88	93	91					2																	228881360		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4210G>C	2.37:g.228881360C>G	ENSP00000375909:p.Glu1404Gln		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906120	0.52333	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13420	2.59;2.59	5.92	3.04	0.35103	.	0.568918	0.20288	N	0.095305	T	0.33118	0.0852	M	0.76574	2.34	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.997;0.994;0.999	T	0.06972	-1.0797	10	0.33141	T	0.24	.	10.4321	0.44413	0.0:0.6793:0.2513:0.0694	.	435;1404;1404	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	Q	1404	ENSP00000375909:E1404Q;ENSP00000339886:E1404Q	ENSP00000339886:E1404Q	E	-	1	0	SPHKAP	228589604	0.451000	0.25705	0.022000	0.16811	0.075000	0.17131	1.187000	0.32090	0.819000	0.34492	0.655000	0.94253	GAA		0.448	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		G	228881360	C	G	228881360	3	3	193	1	0	0	0	0	1	0	0	0	15053	922	32	4	916	4	SPHKAP	2	228881360	Missense_Mutation	SNP	C	TCGA-B0-5109-01A-02D-1421-08		228881360	14318013	5	11938											
IL17RC	84818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9960258	9960258	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr3:9960258G>T	ENST00000295981.3	+	5	861	c.643G>T	c.(643-645)Gtg>Ttg	p.V215L	IL17RC_ENST00000413608.1_Missense_Mutation_p.V144L|IL17RC_ENST00000416074.2_Missense_Mutation_p.V15L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Missense_Mutation_p.V144L|IL17RC_ENST00000403601.3_Missense_Mutation_p.V144L|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000455057.1_Missense_Mutation_p.V144L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	215					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.V215L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGAGGTGCAAGTGCCTGCTGC	0.502																																																1	Substitution - Missense(1)	kidney(1)											91	85	87					3																	9960258		2203	4300	6503	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.643G>T	3.37:g.9960258G>T	ENSP00000295981:p.Val215Leu		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059107	0.76074	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	5.12	5.12	0.69794	.	0.000000	0.48286	D	0.000184	T	0.39009	0.1062	M	0.66939	2.045	0.28048	N	0.933467	D;D;D;D;D;D;D;P;D	0.76494	0.999;0.977;0.999;0.999;0.985;0.985;0.999;0.894;0.994	D;P;D;D;P;P;D;P;P	0.78314	0.991;0.854;0.981;0.981;0.729;0.729;0.991;0.535;0.89	T	0.16928	-1.0386	10	0.45353	T	0.12	-20.4193	14.0618	0.64804	0.0:0.0:1.0:0.0	.	144;15;144;144;144;144;144;215;144	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	L	144;119;215;119;144;15;144;144	ENSP00000373323:V144L;ENSP00000414609:V119L;ENSP00000295981:V215L;ENSP00000401128:V119L;ENSP00000384969:V144L;ENSP00000395315:V15L;ENSP00000407894:V144L;ENSP00000396064:V144L	ENSP00000295981:V215L	V	+	1	0	IL17RC	9935258	0.998000	0.40836	0.994000	0.49952	0.991000	0.79684	3.598000	0.54038	2.390000	0.81377	0.555000	0.69702	GTG		0.502	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		T	9960258	G	T	9960258	3	4	193	1	0	0	0	0	1	0	0	0	7643	1029	36	4	661	4	IL17RC	3	9960258	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08		9960258	188062172	6	11939											
NPHP3	27031	broad.mit.edu;hgsc.bcm.edu	37	3	132416207	132416207	+	Splice_Site	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr3:132416207C>A	ENST00000337331.5	-	14	2072		c.e14-1		NPHP3_ENST00000326682.8_Splice_Site	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)						atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.?(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGCCACAACCTTTTATGTAA	0.299																																																1	Unknown(1)	kidney(1)											90	98	95					3																	132416207		2203	4297	6500	SO:0001630	splice_region_variant	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1986-1G>T	3.37:g.132416207C>A			Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Splice_Site	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460543	0.84317	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPHP3	133898897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.185000	0.65076	2.885000	0.99019	0.655000	0.94253	.		0.299	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	Intron	A	132416207	C	A	132416207	5	1	193	1	0	0	0	0	0	0	1	0	10582	695	24	4	2063	4	NPHP3	3	132416207	Splice_Site	SNP	C	TCGA-B0-5109-01A-02D-1421-08	122455949	132416207	65606223	7	11940											
RPL22L1	200916	broad.mit.edu;ucsc.edu	37	3	170585834	170585834	+	Silent	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr3:170585834G>T	ENST00000295830.8	-	3	507	c.192C>A	c.(190-192)atC>atA	p.I64I	RPL22L1_ENST00000463836.1_Silent_p.I63I	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	64					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)	p.I64I(1)		kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AAACAACTGTGATTTTATTCT	0.308																																																1	Substitution - coding silent(1)	kidney(1)											41	36	38					3																	170585834		1790	4062	5852	SO:0001819	synonymous_variant	200916			BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.192C>A	3.37:g.170585834G>T			Q32Q77	Silent	SNP	ENST00000295830.8	37	CCDS46955.1																																																																																				0.308	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317		T	170585834	G	T	170585834	2	4	193	1	0	0	0	0	0	0	0	1	13575	1280	45	4		4	RPL22L1	3	170585834	Silent	SNP	G	TCGA-B0-5109-01A-02D-1421-08	38169627	170585834	27436596	8	11941											
CLCN2	1181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184064449	184064449	+	Missense_Mutation	SNP	C	C	T	rs199616806		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr3:184064449C>T	ENST00000265593.4	-	24	2813	c.2642G>A	c.(2641-2643)cGt>cAt	p.R881H	CLCN2_ENST00000457512.1_Missense_Mutation_p.R852H|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.R837H|CLCN2_ENST00000344937.7_Missense_Mutation_p.R864H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	881					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.R881H(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GAGGCCATGACGGGAGTGGGG	0.667																																																1	Substitution - Missense(1)	kidney(1)											59	56	57					3																	184064449		2203	4300	6503	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2642G>A	3.37:g.184064449C>T	ENSP00000265593:p.Arg881His		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	10.45	1.352766	0.24512	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.85556	-1.89;-1.84;-1.94;-2.0	5.51	2.42	0.29668	.	0.634353	0.16741	N	0.201437	T	0.71787	0.3381	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.60954	-0.7160	10	0.31617	T	0.26	-7.5281	9.255	0.37577	0.0:0.6492:0.0:0.3508	.	837;852;864;881;837	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	H	881;864;837;852	ENSP00000265593:R881H;ENSP00000345056:R864H;ENSP00000400425:R837H;ENSP00000391928:R852H	ENSP00000265593:R881H	R	-	2	0	CLCN2	185547143	0.978000	0.34361	1.000000	0.80357	0.467000	0.32768	0.578000	0.23773	0.514000	0.28300	-0.126000	0.14955	CGT		0.667	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			T	184064449	C	T	184064449	3	4	193	1	0	0	0	0	1	0	0	0	3465	536	19	1	58	1	CLCN2	3	184064449	Missense_Mutation	SNP	C	TCGA-B0-5109-01A-02D-1421-08	13478615	184064449	13957981	9	11942											
FGFR3	2261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1804696	1804696	+	Intron	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr4:1804696C>A	ENST00000260795.2	+	7	1032				FGFR3_ENST00000440486.2_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Nonsense_Mutation_p.S329*			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3						alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S329*(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GCCAATGTGTCGGAGCGGGAC	0.667		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	1	Substitution - Nonsense(1)	kidney(1)											23	26	25					4																	1804696		1564	3579	5143	SO:0001627	intron_variant	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.931-723C>A	4.37:g.1804696C>A			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Nonsense_Mutation	SNP	ENST00000260795.2	37	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	39	7.488904	0.98316	.	.	ENSG00000068078	ENST00000340107	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	16.4681	0.84090	0.0:1.0:0.0:0.0	.	.	.	.	X	329	.	ENSP00000339824:S329X	S	+	2	0	FGFR3	1774494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.202000	0.77856	2.115000	0.64714	0.655000	0.94253	TCG		0.667	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		A	1804696	C	A	1804696	1	1	193	0	1	0	0	0	0	0	0	0	5869	893	31	4		4	FGFR3	4	1804696	Intron	SNP	C	TCGA-B0-5109-01A-02D-1421-08		1804696	189349580	10	11943											
GBA3	57733	broad.mit.edu;hgsc.bcm.edu	37	4	22820365	22820365	+	RNA	SNP	A	A	G	rs556093396		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr4:22820365A>G	ENST00000503442.1	+	0	399				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.N410S(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATAAAGTCAATCTTCAAGTA	0.393													A|||	1	0.000199681	0.0	0.0014	5008	,	,		18490	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											66	59	61					4																	22820365		1846	4087	5933			57733			AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"klotho-related protein"	606619	"glucosidase, beta, acid 3 (cytosolic)"			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22820365A>G			Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37																																																																																					0.393	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			G	22820365	A	G	22820365	1	3	193	0	1	0	0	0	0	0	0	0	6270	101	4	3		3	GBA3	4	22820365	RNA	SNP	A	TCGA-B0-5109-01A-02D-1421-08	21015669	22820365	168333911	11	11944											
PTGER4	5734	hgsc.bcm.edu;ucsc.edu	37	5	40692474	40692475	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr5:40692474_40692475delTA	ENST00000302472.3	+	3	2485_2486	c.1461_1462delTA	c.(1459-1464)tgtatafs	p.I488fs		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	488					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CAGAAAAATGTATATAATAGGC	0.47																																																0																																										SO:0001589	frameshift_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1461_1462delTA	5.37:g.40692478_40692479delTA	ENSP00000302846:p.Ile488fs		Q3MJ87	Frame_Shift_Del	DEL	ENST00000302472.3	37	CCDS3930.1																																																																																				0.47	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		-	40692475	TA	-	40692474	7	5	193	1	0	1	0	1	0	0	0	0	12751	1644	57	0	1467	0	PTGER4	5	40692474	Frame_Shift_Del	DEL	TA	TCGA-B0-5109-01A-02D-1421-08		40692474	140222786	12	11945											
TRIM36	55521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	114513529	114513529	+	Intron	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr5:114513529C>T	ENST00000282369.3	-	1	185				TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000379617.2_Missense_Mutation_p.R35Q|TRIM36_ENST00000379618.2_Intron	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36						acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R35Q(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGAAGTCAACCGGGAATGCTC	0.488																																																1	Substitution - Missense(1)	kidney(1)											86	87	86					5																	114513529		2202	4300	6502	SO:0001627	intron_variant	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.63+2142G>A	5.37:g.114513529C>T			A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269637	0.23221	.	.	ENSG00000152503	ENST00000379617	.	.	.	2.51	-0.995	0.10222	.	.	.	.	.	T	0.28134	0.0694	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26883	-1.0090	7	0.87932	D	0	.	5.4976	0.16811	0.0:0.193:0.6007:0.2062	.	35	A6NDD0	.	Q	35	.	ENSP00000368937:R35Q	R	-	2	0	TRIM36	114541428	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.423000	0.07034	-0.234000	0.09782	0.561000	0.74099	CGG		0.488	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		T	114513529	C	T	114513529	1	4	193	0	1	0	0	0	0	0	0	0	16515	652	23	1		1	TRIM36	5	114513529	Intron	SNP	C	TCGA-B0-5109-01A-02D-1421-08	73821055	114513529	66401731	13	11946											
PCDHGB3	56102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140750550	140750550	+	Nonsense_Mutation	SNP	A	A	T	rs200655179	byFrequency	TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr5:140750550A>T	ENST00000576222.1	+	1	720	c.589A>T	c.(589-591)Aaa>Taa	p.K197*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	197	Cadherin 2. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGTACTGAAAGCACCCCT	0.562																																																0													77	80	79					5																	140750550		2038	4208	6246	SO:0001587	stop_gained	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.589A>T	5.37:g.140750550A>T	ENSP00000461862:p.Lys197*		A7E229|Q9Y5C7	Nonsense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.562	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		T	140750550	A	T	140750550	4	4	193	1	0	0	0	0	0	1	0	0	11566	247	9	5	591	5	PCDHGB3	5	140750550	Nonsense_Mutation	SNP	A	TCGA-B0-5109-01A-02D-1421-08	26237021	140750550	40164710	14	11947											
CCNJL	79616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	159680467	159680467	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr5:159680467G>C	ENST00000393977.3	-	7	1511	c.1226C>G	c.(1225-1227)cCc>cGc	p.P409R	CCNJL_ENST00000257536.7_Missense_Mutation_p.P361R|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	409						nucleus (GO:0005634)		p.P409R(1)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGTGCCTGGGCTCAGCTGC	0.602																																																1	Substitution - Missense(1)	kidney(1)											77	84	81					5																	159680467		2161	4264	6425	SO:0001583	missense	79616			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1226C>G	5.37:g.159680467G>C	ENSP00000377547:p.Pro409Arg		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858576	0.71834	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.35048	1.73;1.33	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.73380	0.944;0.98	T	0.52845	-0.8521	10	0.46703	T	0.11	-41.1382	17.0286	0.86454	0.0:0.0:1.0:0.0	.	361;409	B4DZA8;Q8IV13	.;CCNJL_HUMAN	R	409;361	ENSP00000377547:P409R;ENSP00000257536:P361R	ENSP00000257536:P361R	P	-	2	0	CCNJL	159613045	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	5.183000	0.65065	2.537000	0.85549	0.655000	0.94253	CCC		0.602	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		C	159680467	G	C	159680467	3	2	193	1	0	0	0	0	1	0	0	0	2931	1232	43	4	85	4	CCNJL	5	159680467	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08	18929917	159680467	21234793	15	11948											
PNPLA1	285848	broad.mit.edu	37	6	36259314	36259314	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr6:36259314G>T	ENST00000394571.2	+	2	423	c.423G>T	c.(421-423)aaG>aaT	p.K141N	PNPLA1_ENST00000388715.3_Missense_Mutation_p.K46N|PNPLA1_ENST00000312917.5_Missense_Mutation_p.K46N	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	141	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)	p.K46N(1)|p.K141N(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCACGTCCAAGGAGGAGCTCA	0.637																																																2	Substitution - Missense(2)	kidney(2)											41	36	38					6																	36259314		2203	4300	6503	SO:0001583	missense	285848				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.423G>T	6.37:g.36259314G>T	ENSP00000378072:p.Lys141Asn		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674412	0.47781	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.17	3.34	0.38264	Acyl transferase/acyl hydrolase/lysophospholipase (1);	11.892500	0.01156	N	0.006533	T	0.59335	0.2186	L	0.43923	1.385	0.32342	N	0.559652	P;P	0.49090	0.919;0.754	B;B	0.43360	0.358;0.417	T	0.38520	-0.9657	10	0.87932	D	0	0.0015	4.6797	0.12729	0.1804:0.0:0.6449:0.1747	.	141;46	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	N	46;46;141;141	ENSP00000373367:K46N;ENSP00000321116:K46N;ENSP00000391868:K141N;ENSP00000378072:K141N	ENSP00000321116:K46N	K	+	3	2	PNPLA1	36367292	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	1.366000	0.34193	0.533000	0.28675	0.467000	0.42956	AAG		0.637	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		T	36259314	G	T	36259314	3	4	193	1	0	0	0	0	1	0	0	0	12166	991	35	4	429	4	PNPLA1	6	36259314	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08		36259314	134855753	16	11949											
MAP7	9053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	136682267	136682267	+	Missense_Mutation	SNP	C	C	T	rs35107962	byFrequency	TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr6:136682267C>T	ENST00000354570.3	-	12	1987	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	MAP7_ENST00000438100.2_Missense_Mutation_p.R511H|MAP7_ENST00000432797.2_Missense_Mutation_p.R380H|MAP7_ENST00000454590.1_Missense_Mutation_p.R548H|MAP7_ENST00000544465.1_Missense_Mutation_p.R511H	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	526			R -> P (in dbSNP:rs35107962).		cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.R526H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCCTCACGGCGAGTCGTCCT	0.602																																																1	Substitution - Missense(1)	kidney(1)											23	25	24					6																	136682267		2200	4292	6492	SO:0001583	missense	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1577G>A	6.37:g.136682267C>T	ENSP00000346581:p.Arg526His		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638766	0.29157	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.78	5.78	0.91487	.	0.121243	0.37623	N	0.002019	T	0.50769	0.1635	M	0.86268	2.805	0.35001	D	0.756005	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	0.76071	0.98;0.98;0.966;0.98;0.987;0.966;0.98	T	0.60535	-0.7244	10	0.66056	D	0.02	-9.0992	12.9093	0.58171	0.0:0.9252:0.0:0.0748	.	511;548;511;548;432;489;526	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	H	526;548;511;511;380;432	ENSP00000346581:R526H;ENSP00000414712:R548H;ENSP00000445737:R511H;ENSP00000400790:R511H;ENSP00000414879:R380H	ENSP00000344217:R432H	R	-	2	0	MAP7	136723960	0.880000	0.30214	0.156000	0.22583	0.028000	0.11728	1.636000	0.37144	2.732000	0.93576	0.555000	0.69702	CGC		0.602	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		T	136682267	C	T	136682267	3	4	193	1	0	0	0	0	1	0	0	0	9268	768	27	1	700	1	MAP7	6	136682267	Missense_Mutation	SNP	C	TCGA-B0-5109-01A-02D-1421-08	100422953	136682267	34432800	17	11950											
MIOS	54468	hgsc.bcm.edu;ucsc.edu	37	7	7635995	7635995	+	Silent	SNP	G	G	T	rs115055951	byFrequency	TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:7635995G>T	ENST00000340080.4	+	11	2725	c.2304G>T	c.(2302-2304)acG>acT	p.T768T	MIOS_ENST00000405785.1_Silent_p.T768T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	768						lysosomal membrane (GO:0005765)		p.T768T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTCACCAACGAAATCTAAAG	0.468																																																1	Substitution - coding silent(1)	kidney(1)											191	182	185					7																	7635995		1971	4151	6122	SO:0001819	synonymous_variant	54468				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"WD repeat-containing protein mio"	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2304G>T	7.37:g.7635995G>T			B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	CCDS43554.1																																																																																				0.468	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		T	7635995	G	T	7635995	2	4	193	1	0	0	0	0	0	0	0	1	9591	1045	37	4		4	MIOS	7	7635995	Silent	SNP	G	TCGA-B0-5109-01A-02D-1421-08		7635995	151502668	18	11951											
HNRNPA2B1	3181	hgsc.bcm.edu	37	7	26235512	26235512	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:26235512G>T	ENST00000354667.4	-	8	880	c.712C>A	c.(712-714)Cgt>Agt	p.R238S	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R226S	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	238	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)	p.R238S(1)|p.R226S(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCAAATCCACGTCCACTGCCA	0.388			T	ETV1	prostate																																		Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	2	Substitution - Missense(2)	kidney(2)											110	94	99					7																	26235512		2203	4300	6503	SO:0001583	missense	3181			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"RNA binding motif (RRM) containing"	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.712C>A	7.37:g.26235512G>T	ENSP00000346694:p.Arg238Ser		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673609	0.29693	.	.	ENSG00000122566	ENST00000354667;ENST00000356674	D;D	0.85955	-2.05;-2.05	5.92	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.77850	0.4192	L	0.33189	0.99	0.34754	D	0.732108	B;B	0.19200	0.023;0.034	B;B	0.13407	0.009;0.007	T	0.76602	-0.2899	10	0.20046	T	0.44	.	14.8457	0.70259	0.0686:0.0:0.9313:0.0	.	226;238	P22626-2;P22626	.;ROA2_HUMAN	S	238;226	ENSP00000346694:R238S;ENSP00000349101:R226S	ENSP00000346694:R238S	R	-	1	0	HNRNPA2B1	26202037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.841000	0.69409	1.493000	0.48517	0.650000	0.86243	CGT		0.388	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		T	26235512	G	T	26235512	3	4	193	1	0	0	0	0	1	0	0	0	7261	1145	40	4	365	4	HNRNPA2B1	7	26235512	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08	18599517	26235512	132903151	19	11952											
IKZF1	10320	broad.mit.edu	37	7	50467716	50467716	+	Silent	SNP	C	C	T	rs367943812		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:50467716C>T	ENST00000331340.3	+	8	1106	c.951C>T	c.(949-951)aaC>aaT	p.N317N	IKZF1_ENST00000438033.1_Silent_p.N230N|IKZF1_ENST00000439701.1_Silent_p.N275N|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Silent_p.N230N|IKZF1_ENST00000349824.4_Silent_p.N174N|IKZF1_ENST00000346667.4_Silent_p.N87N|IKZF1_ENST00000359197.5_Silent_p.N275N|IKZF1_ENST00000357364.4_Silent_p.N230N	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	317					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.N317N(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCATCAACAACGCCATCAACT	0.642			"D,T"	BCL6	"ALL, DLBCL"																																		"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	29	Unknown(28)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(28)|kidney(1)											31	32	32					7																	50467716		2123	4261	6384	SO:0001819	synonymous_variant	10320			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.951C>T	7.37:g.50467716C>T			A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37																																																																																					0.642	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		T	50467716	C	T	50467716	2	4	193	1	0	0	0	0	0	0	0	1	7616	535	19	1		1	IKZF1	7	50467716	Silent	SNP	C	TCGA-B0-5109-01A-02D-1421-08	24232204	50467716	108670947	20	11953											
FKBP6	8468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	72745747	72745747	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:72745747C>T	ENST00000252037.4	+	5	625	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	FKBP6_ENST00000413573.2_Missense_Mutation_p.R156C|FKBP6_ENST00000431982.2_Missense_Mutation_p.R181C	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	186					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R186C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCGCCAGAATCGTTTCTATGA	0.423																																																2	Substitution - Missense(2)	kidney(2)											103	100	101					7																	72745747		1862	4096	5958	SO:0001583	missense	8468			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.556C>T	7.37:g.72745747C>T	ENSP00000252037:p.Arg186Cys		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192615	0.38707	.	.	ENSG00000077800	ENST00000431982;ENST00000413573;ENST00000252037	T;T;T	0.75821	-0.97;-0.97;-0.97	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);	0.239091	0.41605	D	0.000848	T	0.65186	0.2667	L	0.60455	1.87	0.80722	D	1	P;B;B	0.40180	0.705;0.258;0.381	B;B;B	0.31686	0.134;0.029;0.043	T	0.70274	-0.4917	10	0.72032	D	0.01	-11.454	8.6777	0.34189	0.1512:0.7706:0.0:0.0782	.	181;186;156	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	C	181;156;186	ENSP00000416277:R181C;ENSP00000394952:R156C;ENSP00000252037:R186C	ENSP00000252037:R186C	R	+	1	0	FKBP6	72383683	0.118000	0.22208	0.944000	0.38274	0.739000	0.42172	2.097000	0.41748	2.573000	0.86826	0.655000	0.94253	CGT		0.423	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		T	72745747	C	T	72745747	3	4	193	1	0	0	0	0	1	0	0	0	5914	884	31	1	620	1	FKBP6	7	72745747	Missense_Mutation	SNP	C	TCGA-B0-5109-01A-02D-1421-08	22278031	72745747	86392916	21	11954											
ZSCAN21	7589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99662005	99662005	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:99662005G>A	ENST00000292450.4	+	4	1351	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.A362T|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.A362T	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	396					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S396N(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGTGGGAAGAGCTTCAGTCAG	0.532																																																1	Substitution - Missense(1)	kidney(1)											92	86	88					7																	99662005		2203	4300	6503	SO:0001583	missense	7589			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1187G>A	7.37:g.99662005G>A	ENSP00000292450:p.Ser396Asn		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	CCDS5681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.62|18.62	3.663246|3.663246	0.67700|0.67700	.|.	.|.	ENSG00000166529|ENSG00000166529	ENST00000543588;ENST00000456748|ENST00000292450;ENST00000379635	T;T|T	0.02197|0.08102	4.4;4.4|3.13	4.24|4.24	4.24|4.24	0.50183|0.50183	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.49916	.|D	.|0.000125	T|T	0.13927|0.13927	0.0337|0.0337	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	P|P	0.40731|0.49783	0.728|0.928	B|P	0.41988|0.50162	0.372|0.633	T|T	0.00920|0.00920	-1.1514|-1.1514	9|10	0.87932|0.87932	D|D	0|0	.|.	14.5544|14.5544	0.68091|0.68091	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	362|396	G3V1M0|Q9Y5A6	.|ZSC21_HUMAN	T|N	362|396;371	ENSP00000441212:A362T;ENSP00000390960:A362T|ENSP00000292450:S396N	ENSP00000390960:A362T|ENSP00000292450:S396N	A|S	+|+	1|2	0|0	ZSCAN21|ZSCAN21	99499941|99499941	0.017000|0.017000	0.18338|0.18338	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.902000|0.902000	0.28459|0.28459	2.382000|2.382000	0.81193|0.81193	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.532	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		A	99662005	G	A	99662005	3	1	193	1	0	0	0	0	1	0	0	0	18238	971	34	2	1197	2	ZSCAN21	7	99662005	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08	26916258	99662005	59476658	22	11955											
PODXL	5420	broad.mit.edu;hgsc.bcm.edu	37	7	131194328	131194328	+	Silent	SNP	C	C	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:131194328C>T	ENST00000378555.3	-	4	1066	c.819G>A	c.(817-819)tcG>tcA	p.S273S	PODXL_ENST00000541194.1_Silent_p.S275S|PODXL_ENST00000322985.9_Silent_p.S241S|PODXL_ENST00000537928.1_Silent_p.S241S|PODXL_ENST00000465001.1_5'Flank			O00592	PODXL_HUMAN	podocalyxin-like	273	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.S273S(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GAGTTCTTTGCGAGATAACCG	0.517																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											165	145	152					7																	131194328		2203	4300	6503	SO:0001819	synonymous_variant	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.819G>A	7.37:g.131194328C>T			A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	37	CCDS34755.1																																																																																				0.517	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		T	131194328	C	T	131194328	2	4	193	1	0	0	0	0	0	0	0	1	12182	755	27	1		1	PODXL	7	131194328	Silent	SNP	C	TCGA-B0-5109-01A-02D-1421-08	31532323	131194328	27944335	23	11956											
PRKAG2	51422	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151262817	151262817	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr7:151262817A>C	ENST00000287878.4	-	12	1892	c.1388T>G	c.(1387-1389)gTg>gGg	p.V463G	PRKAG2_ENST00000492843.1_Missense_Mutation_p.V339G|PRKAG2_ENST00000433631.2_Missense_Mutation_p.V338G|PRKAG2_ENST00000392801.2_Missense_Mutation_p.V419G|PRKAG2_ENST00000418337.2_Missense_Mutation_p.V222G	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	463	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.V463G(1)|p.V338G(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TGACTCATCCACAACAGGCAG	0.443																																																2	Substitution - Missense(2)	kidney(2)											207	176	187					7																	151262817		2203	4300	6503	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1388T>G	7.37:g.151262817A>C	ENSP00000287878:p.Val463Gly		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743820	0.89663	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99624	1.0984	10	0.87932	D	0	.	15.7905	0.78357	1.0:0.0:0.0:0.0	.	338;463	B7Z6X8;Q9UGJ0	.;AAKG2_HUMAN	G	222;463;339;338;419	ENSP00000387386:V222G;ENSP00000287878:V463G;ENSP00000419577:V339G;ENSP00000406544:V338G;ENSP00000376549:V419G	ENSP00000287878:V463G	V	-	2	0	PRKAG2	150893750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.999000	0.93557	2.324000	0.78689	0.533000	0.62120	GTG		0.443	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		C	151262817	A	C	151262817	3	2	193	1	0	0	0	0	1	0	0	0	12506	159	6	5	341	5	PRKAG2	7	151262817	Missense_Mutation	SNP	A	TCGA-B0-5109-01A-02D-1421-08	20068489	151262817	7875846	24	11957											
CHD7	55636	hgsc.bcm.edu	37	8	61777948	61777948	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr8:61777948A>G	ENST00000423902.2	+	38	8929	c.8450A>G	c.(8449-8451)aAt>aGt	p.N2817S	CHD7_ENST00000524602.1_Missense_Mutation_p.N768S	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2817					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.N2817I(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGCTGTTGAATAACCCTCTG	0.557																																																2	Substitution - Missense(2)	lung(2)											53	53	53					8																	61777948		2019	4171	6190	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8450A>G	8.37:g.61777948A>G	ENSP00000392028:p.Asn2817Ser		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303884	0.23736	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	D;T	0.81739	-1.53;2.03	5.25	5.25	0.73442	.	0.139657	0.48767	D	0.000169	T	0.68016	0.2955	L	0.36672	1.1	0.38552	D	0.94947	P	0.34662	0.462	B	0.23275	0.045	T	0.68443	-0.5407	10	0.12430	T	0.62	-21.3317	15.1443	0.72637	1.0:0.0:0.0:0.0	.	2817	Q9P2D1	CHD7_HUMAN	S	2817;2817;768	ENSP00000392028:N2817S;ENSP00000437061:N768S	ENSP00000307304:N2817S	N	+	2	0	CHD7	61940502	1.000000	0.71417	0.581000	0.28614	0.978000	0.69477	4.314000	0.59166	1.978000	0.57642	0.482000	0.46254	AAT		0.557	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		G	61777948	A	G	61777948	3	3	193	1	0	0	0	0	1	0	0	0	3332	101	4	3	8596	3	CHD7	8	61777948	Missense_Mutation	SNP	A	TCGA-B0-5109-01A-02D-1421-08		61777948	84586074	25	11958											
CLVS1	157807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	62212433	62212433	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr8:62212433G>T	ENST00000519846.1	+	3	519	c.47G>T	c.(46-48)tGg>tTg	p.W16L	RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.W16L|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	16					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.W16L(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTAAACACTTGGAACGGAGAT	0.453																																																1	Substitution - Missense(1)	kidney(1)											57	57	57					8																	62212433		2203	4300	6503	SO:0001583	missense	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.47G>T	8.37:g.62212433G>T	ENSP00000428402:p.Trp16Leu		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	7.203	0.593954	0.13875	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.78246	-1.16;-1.16	5.69	2.84	0.33178	.	0.842461	0.10876	N	0.624284	T	0.53530	0.1802	N	0.12182	0.205	0.38181	D	0.939617	B;B;B	0.24186	0.0;0.099;0.0	B;B;B	0.21917	0.0;0.037;0.001	T	0.42832	-0.9428	10	0.07482	T	0.82	4.8743	3.9066	0.09185	0.138:0.1312:0.5947:0.1362	.	16;16;16	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	L	16	ENSP00000428402:W16L;ENSP00000325506:W16L	ENSP00000325506:W16L	W	+	2	0	CLVS1	62374987	1.000000	0.71417	0.241000	0.24154	0.563000	0.35712	2.138000	0.42140	0.303000	0.22785	0.655000	0.94253	TGG		0.453	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		T	62212433	G	T	62212433	3	4	193	1	0	0	0	0	1	0	0	0	3573	1357	47	4	49	4	CLVS1	8	62212433	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08	434485	62212433	84151589	26	11959											
VPS13A	23230	hgsc.bcm.edu;ucsc.edu	37	9	79908261	79908261	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr9:79908261delT	ENST00000360280.3	+	32	3604	c.3344delT	c.(3343-3345)gttfs	p.V1115fs	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.V1115fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.V1076fs|VPS13A_ENST00000376634.4_Frame_Shift_Del_p.V1115fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1115					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTAAGGCTGTTTATATCACT	0.294																																																0													84	87	86					9																	79908261		2203	4299	6502	SO:0001589	frameshift_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3344delT	9.37:g.79908261delT	ENSP00000353422:p.Val1115fs		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Del	DEL	ENST00000360280.3	37	CCDS6655.1																																																																																				0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		-	79908261	T	-	79908261	7	5	193	1	0	1	0	1	0	0	0	0	17194	1725	60	0	3470	0	VPS13A	9	79908261	Frame_Shift_Del	DEL	T	TCGA-B0-5109-01A-02D-1421-08		79908261	61305170	27	11960											
OMD	4958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95177538	95177538	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr9:95177538C>A	ENST00000375550.4	-	3	1437	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	388	Asp/Glu-rich (acidic).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.D388Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TCACTTTCATCATCATCATCT	0.383			T	USP6	aneurysmal bone cysts																																		Dom	yes		9	9q22.31	4958	osteomodulin		M	1	Substitution - Missense(1)	kidney(1)											222	201	208					9																	95177538		2203	4300	6503	SO:0001583	missense	4958			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8134	protein-coding gene	gene with protein product	"osteoadherin proteoglycan"						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.1162G>T	9.37:g.95177538C>A	ENSP00000364700:p.Asp388Tyr		Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258626	0.59321	.	.	ENSG00000127083	ENST00000375550	T	0.38401	1.14	4.66	3.76	0.43208	.	0.816868	0.10752	N	0.638154	T	0.29817	0.0745	N	0.08118	0	0.29493	N	0.855472	D	0.55385	0.971	P	0.49708	0.62	T	0.25398	-1.0133	10	0.72032	D	0.01	-10.8835	12.7847	0.57498	0.0:0.9199:0.0:0.0801	.	388	Q99983	OMD_HUMAN	Y	388	ENSP00000364700:D388Y	ENSP00000364700:D388Y	D	-	1	0	OMD	94217359	0.029000	0.19370	0.024000	0.17045	0.661000	0.39034	1.415000	0.34748	1.090000	0.41315	0.555000	0.69702	GAT		0.383	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		A	95177538	C	A	95177538	3	1	193	1	0	0	0	0	1	0	0	0	10867	826	29	4	107	4	OMD	9	95177538	Missense_Mutation	SNP	C	TCGA-B0-5109-01A-02D-1421-08	15269277	95177538	46035893	28	11961											
ABCA1	19	broad.mit.edu;ucsc.edu	37	9	107558370	107558370	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr9:107558370G>C	ENST00000374736.3	-	39	5740	c.5346C>G	c.(5344-5346)agC>agG	p.S1782R		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1782					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.S1782R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGGTGGCCACGCTGCCATTAA	0.537																																																1	Substitution - Missense(1)	kidney(1)											136	126	129					9																	107558370		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5346C>G	9.37:g.107558370G>C	ENSP00000363868:p.Ser1782Arg		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	g	14.74	2.626825	0.46840	.	.	ENSG00000165029	ENST00000374736	D	0.83591	-1.74	5.76	-8.4	0.00965	.	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	M	0.86420	2.815	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.91358	0.5109	10	0.72032	D	0.01	.	20.7433	0.99720	0.4322:0.0:0.5678:0.0	.	1782	O95477	ABCA1_HUMAN	R	1782	ENSP00000363868:S1782R	ENSP00000363868:S1782R	S	-	3	2	ABCA1	106598191	0.000000	0.05858	0.481000	0.27354	0.725000	0.41563	-1.350000	0.02624	-2.086000	0.00863	-3.307000	0.00045	AGC		0.537	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		C	107558370	G	C	107558370	3	2	193	1	0	0	0	0	1	0	0	0	28	1078	38	4	1487	4	ABCA1	9	107558370	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08	12380832	107558370	33655061	29	11962											
SPTAN1	6709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131345086	131345086	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr9:131345086G>C	ENST00000372731.4	+	14	1874	c.1764G>C	c.(1762-1764)tgG>tgC	p.W588C	SPTAN1_ENST00000372739.3_Missense_Mutation_p.W588C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.W588C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	588					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.W588C(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCAAGAGTTGGGTCAATGAGA	0.473																																					NSCLC(120;833 1744 2558 35612 37579)											1	Substitution - Missense(1)	kidney(1)											108	107	107					9																	131345086		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1764G>C	9.37:g.131345086G>C	ENSP00000361816:p.Trp588Cys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516369	0.85495	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.70749	-0.51;-0.51;-0.51	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88855	0.6550	M	0.93328	3.405	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.996;1.0;0.998;1.0	D	0.90982	0.4828	10	0.87932	D	0	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	588;588;588;588;588	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	588	ENSP00000350882:W588C;ENSP00000361816:W588C;ENSP00000361824:W588C	ENSP00000350882:W588C	W	+	3	0	SPTAN1	130384907	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.756000	0.94617	0.561000	0.74099	TGG		0.473	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		C	131345086	G	C	131345086	3	2	193	1	0	0	0	0	1	0	0	0	15122	1241	43	4	1814	4	SPTAN1	9	131345086	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08	23786716	131345086	9868345	30	11963											
ABCA2	20	broad.mit.edu;hgsc.bcm.edu	37	9	139909971	139909971	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr9:139909971C>A	ENST00000371605.3	-	23	3736	c.3589G>T	c.(3589-3591)Ggg>Tgg	p.G1197W	ABCA2_ENST00000341511.6_Missense_Mutation_p.G1198W|ABCA2_ENST00000265662.5_Missense_Mutation_p.G1198W|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1197	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.G1198W(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGAGCTTCCCATGGGAGATG	0.667																																																1	Substitution - Missense(1)	kidney(1)											39	43	41					9																	139909971		2199	4294	6493	SO:0001583	missense	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3589G>T	9.37:g.139909971C>A	ENSP00000360666:p.Gly1197Trp		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	C	19.58	3.854167	0.71719	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.81499	-1.5;-1.5;-1.5	4.46	4.46	0.54185	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.059967	0.64402	U	0.000003	D	0.94483	0.8224	H	0.99425	4.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97354	0.9965	10	0.87932	D	0	.	16.704	0.85367	0.0:1.0:0.0:0.0	.	1197;1228	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	W	1198;1197;1228;1198	ENSP00000265662:G1198W;ENSP00000360666:G1197W;ENSP00000344155:G1198W	ENSP00000265662:G1198W	G	-	1	0	ABCA2	139029792	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	5.873000	0.69644	2.034000	0.60081	0.313000	0.20887	GGG		0.667	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		A	139909971	C	A	139909971	3	1	193	1	0	0	0	0	1	0	0	0	32	594	21	4	3822	4	ABCA2	9	139909971	Missense_Mutation	SNP	C	TCGA-B0-5109-01A-02D-1421-08	8564885	139909971	1303460	31	11964											
PCDH15	65217	broad.mit.edu	37	10	55944912	55944912	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr10:55944912C>A	ENST00000320301.6	-	12	1816	c.1422G>T	c.(1420-1422)caG>caT	p.Q474H	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.Q479H|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q452H|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q474H|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q452H|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q481H|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q474H|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q481H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q474H|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q437H|PCDH15_ENST00000409834.1_Missense_Mutation_p.Q85H|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q474H|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q474H|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q474H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	474	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.Q474H(2)|p.Q479H(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTAAGTTTGCTGTTCTTCCC	0.393										HNSCC(58;0.16)																																						4	Substitution - Missense(4)	kidney(4)											171	143	153					10																	55944912		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1422G>T	10.37:g.55944912C>A	ENSP00000322604:p.Gln474His		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982880	0.53827	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61627	0.09;0.56;0.56;0.17;0.09;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.14	3.27	0.37495	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69682	0.3138	M	0.63843	1.955	0.30373	N	0.782735	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0;0.999;0.999;0.999;0.997;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.986;0.989;1.0;0.998;0.999;0.998;0.979;0.963;0.996;0.999;0.987;0.992;0.996	T	0.65393	-0.6179	9	0.45353	T	0.12	.	8.8937	0.35451	0.0:0.7511:0.0:0.2489	.	452;474;474;479;474;437;474;474;481;481;474;479;474;452;474	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	481;479;474;474;85;481;474;437;474;452;452;474;474;479;474;474	ENSP00000363076:Q481H;ENSP00000410304:Q479H;ENSP00000378826:Q474H;ENSP00000386693:Q85H;ENSP00000378832:Q481H;ENSP00000378833:Q474H;ENSP00000378820:Q437H;ENSP00000354950:Q474H;ENSP00000378821:Q452H;ENSP00000363068:Q452H;ENSP00000322604:Q474H;ENSP00000378818:Q474H;ENSP00000412628:Q474H;ENSP00000363066:Q474H	ENSP00000322604:Q474H	Q	-	3	2	PCDH15	55614918	0.999000	0.42202	0.995000	0.50966	0.981000	0.71138	0.658000	0.24979	0.672000	0.31204	0.591000	0.81541	CAG		0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55944912	C	A	55944912	3	1	193	1	0	0	0	0	1	0	0	0	11513	796	28	4	6152	4	PCDH15	10	55944912	Missense_Mutation	SNP	C	TCGA-B0-5109-01A-02D-1421-08		55944912	79589835	32	11965											
HECTD2	143279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93258806	93258806	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr10:93258806G>A	ENST00000298068.5	+	18	1943	c.1849G>A	c.(1849-1851)Gta>Ata	p.V617I	HECTD2_ENST00000371667.1_Missense_Mutation_p.V267I|HECTD2_ENST00000446394.1_Missense_Mutation_p.V621I|HECTD2_ENST00000536715.1_Missense_Mutation_p.V206I	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	617	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V617I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TTCAGAATATGTACAGCTTTA	0.284																																					NSCLC(12;376 469 1699 39910 41417)											1	Substitution - Missense(1)	kidney(1)											93	91	92					10																	93258806		2202	4296	6498	SO:0001583	missense	143279			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1849G>A	10.37:g.93258806G>A	ENSP00000298068:p.Val617Ile		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380301	0.82682	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.96	5.06	0.68205	HECT (4);	0.059826	0.64402	N	0.000003	T	0.53658	0.1810	L	0.49126	1.545	0.58432	D	0.999991	B;D	0.52996	0.206;0.957	B;P	0.56823	0.232;0.807	T	0.55438	-0.8141	10	0.54805	T	0.06	.	15.1406	0.72607	0.0686:0.0:0.9314:0.0	.	621;617	E7ERR3;Q5U5R9	.;HECD2_HUMAN	I	621;617;206;267	ENSP00000401023:V621I;ENSP00000298068:V617I;ENSP00000439687:V206I;ENSP00000360731:V267I	ENSP00000298068:V617I	V	+	1	0	HECTD2	93248786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	1.525000	0.49052	0.650000	0.86243	GTA		0.284	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			A	93258806	G	A	93258806	3	1	193	1	0	0	0	0	1	0	0	0	7042	1377	48	2	1943	2	HECTD2	10	93258806	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08	37313894	93258806	42275941	33	11966											
IPO7	10527	broad.mit.edu;hgsc.bcm.edu	37	11	9446754	9446754	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr11:9446754G>A	ENST00000379719.3	+	12	1422	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	427					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.R427Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GCTGACCCTCGAAAAAAAGAT	0.368																																																1	Substitution - Missense(1)	kidney(1)											84	82	83					11																	9446754		2201	4295	6496	SO:0001583	missense	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1280G>A	11.37:g.9446754G>A	ENSP00000369042:p.Arg427Gln		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	36	5.604402	0.96626	.	.	ENSG00000205339	ENST00000379719	T	0.67865	-0.29	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.72576	2.205	0.80722	D	1	D	0.61080	0.989	P	0.54856	0.762	T	0.75872	-0.3164	10	0.35671	T	0.21	.	19.2869	0.94082	0.0:0.0:1.0:0.0	.	427	O95373	IPO7_HUMAN	Q	427	ENSP00000369042:R427Q	ENSP00000369042:R427Q	R	+	2	0	IPO7	9403330	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	9.847000	0.99503	2.528000	0.85240	0.655000	0.94253	CGA		0.368	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		A	9446754	G	A	9446754	3	1	193	1	0	0	0	0	1	0	0	0	7799	1058	37	1	1326	1	IPO7	11	9446754	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08		9446754	125559762	34	11967											
LRP5	4041	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68125161	68125161	+	Silent	SNP	C	C	A	rs200728516		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr11:68125161C>A	ENST00000294304.7	+	3	638	c.532C>A	c.(532-534)Cgg>Agg	p.R178R		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	178	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R178R(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGATTGAGCGGGCAGGGAT	0.547																																																1	Substitution - coding silent(1)	kidney(1)											73	64	67					11																	68125161		2200	4294	6494	SO:0001819	synonymous_variant	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.532C>A	11.37:g.68125161C>A			Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	CCDS8181.1																																																																																				0.547	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		A	68125161	C	A	68125161	2	1	193	1	0	0	0	0	0	0	0	1	8962	759	27	4		4	LRP5	11	68125161	Silent	SNP	C	TCGA-B0-5109-01A-02D-1421-08	58678407	68125161	66881355	35	11968											
GPR162	27239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6936017	6936017	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr12:6936017A>T	ENST00000311268.3	+	5	2202	c.1415A>T	c.(1414-1416)gAa>gTa	p.E472V	GPR162_ENST00000428545.2_Missense_Mutation_p.E188V|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000382315.3_Missense_Mutation_p.E168V	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	472						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E472V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GAAGAGGCTGAAGGTGGGGGG	0.662																																																1	Substitution - Missense(1)	kidney(1)											50	64	59					12																	6936017		2203	4300	6503	SO:0001583	missense	27239			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1415A>T	12.37:g.6936017A>T	ENSP00000311528:p.Glu472Val		Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.295525	0.40594	.	.	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.47528	3.0;0.84;0.84	4.24	3.1	0.35709	.	.	.	.	.	T	0.25044	0.0608	N	0.08118	0	0.29402	N	0.861851	B;P	0.48911	0.077;0.917	B;B	0.41135	0.165;0.348	T	0.10730	-1.0617	9	0.72032	D	0.01	.	4.4758	0.11739	0.578:0.2317:0.1902:0.0	.	188;472	Q16538-2;Q16538	.;GP162_HUMAN	V	472;188;168	ENSP00000311528:E472V;ENSP00000399670:E188V;ENSP00000371752:E168V	ENSP00000311528:E472V	E	+	2	0	GPR162	6806278	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.224000	0.51238	0.969000	0.38237	0.459000	0.35465	GAA		0.662	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		T	6936017	A	T	6936017	3	4	193	1	0	0	0	0	1	0	0	0	6668	246	9	5	1448	5	GPR162	12	6936017	Missense_Mutation	SNP	A	TCGA-B0-5109-01A-02D-1421-08		6936017	126915878	36	11969											
LUM	4060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	91502697	91502697	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr12:91502697G>C	ENST00000266718.4	-	2	514	c.60C>G	c.(58-60)taC>taG	p.Y20*	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	20					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.Y20*(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CATAATCATAGTACTGGCCAC	0.403																																																1	Substitution - Nonsense(1)	kidney(1)											84	77	80					12																	91502697		2203	4300	6503	SO:0001587	stop_gained	4060			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.60C>G	12.37:g.91502697G>C	ENSP00000266718:p.Tyr20*		B2R6R5|Q96QM7	Nonsense_Mutation	SNP	ENST00000266718.4	37	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	38	6.981537	0.97979	.	.	ENSG00000139329	ENST00000266718	.	.	.	5.44	4.54	0.55810	.	0.550801	0.18124	U	0.150950	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1682	5.4405	0.16507	0.2721:0.0:0.7279:0.0	.	.	.	.	X	20	.	ENSP00000266718:Y20X	Y	-	3	2	LUM	90026828	0.994000	0.37717	1.000000	0.80357	0.782000	0.44232	0.766000	0.26560	2.714000	0.92807	0.650000	0.86243	TAC		0.403	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		C	91502697	G	C	91502697	4	2	193	1	0	0	0	0	0	1	0	0	9087	1024	36	4	964	4	LUM	12	91502697	Nonsense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08	84566680	91502697	42349198	37	11970											
ANO4	121601	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	101504334	101504334	+	Splice_Site	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr12:101504334G>C	ENST00000392977.3	+	23	2512	c.2302G>C	c.(2302-2304)Gga>Cga	p.G768R	ANO4_ENST00000550015.1_Splice_Site_p.G288R|ANO4_ENST00000299222.9_Splice_Site_p.G288R|ANO4_ENST00000392979.3_Splice_Site_p.G733R			Q32M45	ANO4_HUMAN	anoctamin 4	768					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G733R(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAAAGACATAGGTAAGTTGGA	0.318										HNSCC(74;0.22)																																						1	Substitution - Missense(1)	kidney(1)											67	62	63					12																	101504334		2203	4300	6503	SO:0001630	splice_region_variant	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2302+1G>C	12.37:g.101504334G>C			Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	G	27.7	4.850874	0.91277	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	D	0.92388	0.7584	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94306	0.7541	10	0.72032	D	0.01	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	288;768;733	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	R	733;288;768;288	ENSP00000376705:G733R;ENSP00000299222:G288R;ENSP00000376703:G768R;ENSP00000450192:G288R	ENSP00000299222:G288R	G	+	1	0	ANO4	100028465	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.869000	0.99810	2.597000	0.87782	0.655000	0.94253	GGA		0.318	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	Missense_Mutation	C	101504334	G	C	101504334	5	2	193	1	0	0	0	0	0	0	1	0	699	1014	35	4	2279	4	ANO4	12	101504334	Splice_Site	SNP	G	TCGA-B0-5109-01A-02D-1421-08	10001637	101504334	32347561	38	11971											
MYCBP2	23077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	77817235	77817235	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr13:77817235C>G	ENST00000544440.2	-	17	2491	c.2474G>C	c.(2473-2475)cGg>cCg	p.R825P	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R825P|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R863P					MYC binding protein 2, E3 ubiquitin protein ligase									p.R825P(2)|p.R863P(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TACACGTTGCCGTTTTTCTTC	0.413																																																3	Substitution - Missense(3)	kidney(3)											286	238	254					13																	77817235		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2474G>C	13.37:g.77817235C>G	ENSP00000444596:p.Arg825Pro			Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	C	26.8	4.767658	0.90020	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32515	1.46;1.45;1.46	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.64402	D	0.000001	T	0.27933	0.0688	L	0.47716	1.5	0.58432	D	0.999999	P	0.44090	0.826	B	0.32465	0.146	T	0.07888	-1.0749	10	0.45353	T	0.12	.	19.6386	0.95748	0.0:1.0:0.0:0.0	.	825	O75592	MYCB2_HUMAN	P	825;863;825	ENSP00000349892:R825P;ENSP00000384288:R863P;ENSP00000444596:R825P	ENSP00000349892:R825P	R	-	2	0	MYCBP2	76715236	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.021000	0.76425	2.629000	0.89072	0.650000	0.86243	CGG		0.413	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77817235	C	G	77817235	3	3	193	1	0	0	0	0	1	0	0	0	10020	652	23	4	11716	4	MYCBP2	13	77817235	Missense_Mutation	SNP	C	TCGA-B0-5109-01A-02D-1421-08		77817235	37352643	39	11972											
MYH7	4625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23890215	23890215	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr14:23890215A>T	ENST00000355349.3	-	26	3450	c.3288T>A	c.(3286-3288)gaT>gaA	p.D1096E	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1096					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.D1096E(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGCCTGTTCATCCTCAATCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											95	86	89					14																	23890215		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3288T>A	14.37:g.23890215A>T	ENSP00000347507:p.Asp1096Glu		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376494	0.82682	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79454	-1.27	5.55	1.94	0.25998	Myosin tail (1);	.	.	.	.	D	0.82838	0.5124	L	0.55743	1.74	0.49582	D	0.9998	D	0.89917	1.0	D	0.91635	0.999	T	0.80511	-0.1350	9	0.66056	D	0.02	.	9.3367	0.38054	0.797:0.0:0.203:0.0	.	1096	P12883	MYH7_HUMAN	E	1096	ENSP00000347507:D1096E	ENSP00000347507:D1096E	D	-	3	2	MYH7	22960055	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.881000	0.39638	0.184000	0.20083	-0.290000	0.09829	GAT		0.577	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23890215	A	T	23890215	3	4	193	1	0	0	0	0	1	0	0	0	10041	214	8	5	2579	5	MYH7	14	23890215	Missense_Mutation	SNP	A	TCGA-B0-5109-01A-02D-1421-08		23890215	83459325	40	11973											
ARID4A	5926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58831552	58831552	+	Silent	SNP	A	A	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr14:58831552A>C	ENST00000355431.3	+	20	3118	c.2745A>C	c.(2743-2745)atA>atC	p.I915I	ARID4A_ENST00000348476.3_Silent_p.I915I|ARID4A_ENST00000395168.3_Silent_p.I915I|ARID4A_ENST00000431317.2_Silent_p.I915I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	915					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I915I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATCATTGATAGCAGAGTCAA	0.363																																																2	Substitution - coding silent(2)	kidney(2)											71	69	70					14																	58831552		2203	4299	6502	SO:0001819	synonymous_variant	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2745A>C	14.37:g.58831552A>C			Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	CCDS9732.1																																																																																				0.363	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		C	58831552	A	C	58831552	2	2	193	1	0	0	0	0	0	0	0	1	919	410	15	5		5	ARID4A	14	58831552	Silent	SNP	A	TCGA-B0-5109-01A-02D-1421-08	34941337	58831552	48517988	41	11974											
CSPG4	1464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75977757	75977757	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr15:75977757G>C	ENST00000308508.5	-	4	4167	c.4075C>G	c.(4075-4077)Cca>Gca	p.P1359A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1359	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.P1359A(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCTCTAGTGGGATGGCAGCG	0.672																																																1	Substitution - Missense(1)	kidney(1)											24	27	26					15																	75977757		2189	4290	6479	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4075C>G	15.37:g.75977757G>C	ENSP00000312506:p.Pro1359Ala		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	19.95	3.922491	0.73213	.	.	ENSG00000173546	ENST00000308508	T	0.25912	1.77	4.76	4.76	0.60689	.	0.098603	0.43416	D	0.000569	T	0.46249	0.1383	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.37478	-0.9704	10	0.49607	T	0.09	.	17.1218	0.86704	0.0:0.0:1.0:0.0	.	1359	Q6UVK1	CSPG4_HUMAN	A	1359	ENSP00000312506:P1359A	ENSP00000312506:P1359A	P	-	1	0	CSPG4	73764812	1.000000	0.71417	0.977000	0.42913	0.625000	0.37756	8.259000	0.89855	2.356000	0.79943	0.505000	0.49811	CCA		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		C	75977757	G	C	75977757	3	2	193	1	0	0	0	0	1	0	0	0	3962	1232	43	4	2921	4	CSPG4	15	75977757	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08		75977757	26553635	42	11975											
ATF7IP2	80063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10525162	10525162	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr16:10525162G>T	ENST00000396560.2	+	3	912	c.685G>T	c.(685-687)Gtt>Ttt	p.V229F	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.V229F|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.V229F|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.V229F|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V229F(1)		large_intestine(3)	3						TTTTGTGCCTGTTGAGAAAAC	0.353																																																1	Substitution - Missense(1)	kidney(1)											100	95	97					16																	10525162		2197	4300	6497	SO:0001583	missense	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.685G>T	16.37:g.10525162G>T	ENSP00000379808:p.Val229Phe		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451347	0.43531	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.73	0.367	0.16140	.	0.996046	0.08130	N	0.993361	T	0.25121	0.0610	N	0.22421	0.69	0.23076	N	0.998334	B;B	0.23249	0.082;0.048	B;B	0.21151	0.029;0.033	T	0.27468	-1.0073	10	0.52906	T	0.07	-0.3631	1.9131	0.03291	0.182:0.1572:0.4988:0.162	.	229;229	Q5U623-2;Q5U623	.;MCAF2_HUMAN	F	229	ENSP00000379807:V229F;ENSP00000379808:V229F;ENSP00000440791:V229F;ENSP00000348799:V229F;ENSP00000322811:V229F	ENSP00000322811:V229F	V	+	1	0	ATF7IP2	10432663	0.003000	0.15002	0.984000	0.44739	0.534000	0.34807	-0.355000	0.07671	-0.072000	0.12864	0.491000	0.48974	GTT		0.353	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		T	10525162	G	T	10525162	3	4	193	1	0	0	0	0	1	0	0	0	1088	1377	48	4	687	4	ATF7IP2	16	10525162	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08		10525162	79829591	43	11976											
DDX28	55794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68055772	68055772	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr16:68055772T>C	ENST00000332395.5	-	1	1998	c.1334A>G	c.(1333-1335)aAg>aGg	p.K445R	DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	445	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.K445R(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TCGGGAGCTCTTCTGGAAGGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											79	75	76					16																	68055772		2198	4300	6498	SO:0001583	missense	55794			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1334A>G	16.37:g.68055772T>C	ENSP00000332340:p.Lys445Arg			Missense_Mutation	SNP	ENST00000332395.5	37	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475165	0.43942	.	.	ENSG00000182810	ENST00000332395	T	0.76316	-1.01	5.81	5.81	0.92471	Helicase, C-terminal (3);	0.168937	0.49916	D	0.000122	T	0.60011	0.2236	N	0.05177	-0.1	0.35979	D	0.835891	B	0.06786	0.001	B	0.10450	0.005	T	0.61426	-0.7065	10	0.22706	T	0.39	-18.3377	15.8472	0.78901	0.0:0.0:0.0:1.0	.	445	Q9NUL7	DDX28_HUMAN	R	445	ENSP00000332340:K445R	ENSP00000332340:K445R	K	-	2	0	DDX28	66613273	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.952000	0.56691	2.221000	0.72209	0.455000	0.32223	AAG		0.522	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		C	68055772	T	C	68055772	3	2	193	1	0	0	0	0	1	0	0	0	4357	1609	56	3	292	3	DDX28	16	68055772	Missense_Mutation	SNP	T	TCGA-B0-5109-01A-02D-1421-08	57530610	68055772	22298981	44	11977											
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7701105	7701105	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr17:7701105G>A	ENST00000572933.1	+	53	9648	c.8188G>A	c.(8188-8190)Gtg>Atg	p.V2730M	DNAH2_ENST00000389173.2_Missense_Mutation_p.V2730M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2730	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2730M(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCCTCTGTCGTGCCCATGCA	0.522																																																1	Substitution - Missense(1)	kidney(1)											161	140	147					17																	7701105		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8188G>A	17.37:g.7701105G>A	ENSP00000458355:p.Val2730Met		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616369	0.66672	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.40756	1.02	4.84	4.84	0.62591	.	0.070956	0.56097	D	0.000034	T	0.61426	0.2346	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.63400	-0.6646	10	0.52906	T	0.07	.	14.9697	0.71223	0.0:0.0:1.0:0.0	.	2730	Q9P225	DYH2_HUMAN	M	2730	ENSP00000373825:V2730M	ENSP00000353818:V2730M	V	+	1	0	DNAH2	7641830	1.000000	0.71417	0.938000	0.37757	0.369000	0.29798	6.206000	0.72154	2.519000	0.84933	0.650000	0.86243	GTG		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7701105	G	A	7701105	3	1	193	1	0	0	0	0	1	0	0	0	4604	1145	40	1	8394	1	DNAH2	17	7701105	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08		7701105	73494105	45	11978											
SOX9	6662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	70119701	70119701	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr17:70119701C>G	ENST00000245479.2	+	3	1075	c.703C>G	c.(703-705)Ccg>Gcg	p.P235A		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	235					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P235A(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCAGGGCCCACCGACCCCACC	0.632																																					Pancreas(42;83 1041 2320 35205 39456)											1	Substitution - Missense(1)	kidney(1)											72	93	86					17																	70119701		2203	4298	6501	SO:0001583	missense	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.703C>G	17.37:g.70119701C>G	ENSP00000245479:p.Pro235Ala		Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155240	0.57259	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.99369	-5.78	4.53	4.53	0.55603	.	0.063133	0.64402	D	0.000004	D	0.98931	0.9637	M	0.93106	3.38	0.80722	D	1	B	0.23650	0.089	B	0.20577	0.03	D	0.99938	1.1378	10	0.62326	D	0.03	.	16.8583	0.86011	0.0:1.0:0.0:0.0	.	235	P48436	SOX9_HUMAN	A	235	ENSP00000245479:P235A	ENSP00000245479:P235A	P	+	1	0	SOX9	67631296	1.000000	0.71417	0.995000	0.50966	0.806000	0.45545	7.501000	0.81600	2.062000	0.61559	0.491000	0.48974	CCG		0.632	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		G	70119701	C	G	70119701	3	3	193	1	0	0	0	0	1	0	0	0	14964	507	18	4	713	4	SOX9	17	70119701	Missense_Mutation	SNP	C	TCGA-B0-5109-01A-02D-1421-08	62418596	70119701	11075509	46	11979											
USH1G	124590	broad.mit.edu	37	17	72919137	72919137	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr17:72919137T>G	ENST00000319642.1	-	1	214	c.32A>C	c.(31-33)gAt>gCt	p.D11A	OTOP2_ENST00000331427.4_5'Flank|OTOP2_ENST00000580223.1_5'Flank	NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	11					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)	p.D11A(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGGTAGCCATCCCGGGCTGC	0.687																																																1	Substitution - Missense(1)	kidney(1)											23	19	21					17																	72919137		2189	4290	6479	SO:0001583	missense	124590			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.32A>C	17.37:g.72919137T>G	ENSP00000320076:p.Asp11Ala		Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831928	0.50845	.	.	ENSG00000182040	ENST00000319642	T	0.32023	1.47	4.12	4.12	0.48240	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.62469	-0.6848	10	0.62326	D	0.03	-21.6376	13.2987	0.60313	0.0:0.0:0.0:1.0	.	11	Q495M9	USH1G_HUMAN	A	11	ENSP00000320076:D11A	ENSP00000320076:D11A	D	-	2	0	USH1G	70430732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.831000	0.86748	1.728000	0.51552	0.459000	0.35465	GAT		0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		G	72919137	T	G	72919137	3	3	193	1	0	0	0	0	1	0	0	0	17040	1435	50	5	1365	5	USH1G	17	72919137	Missense_Mutation	SNP	T	TCGA-B0-5109-01A-02D-1421-08	2799436	72919137	8276073	47	11980											
SLC39A6	25800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33689577	33689577	+	Silent	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr18:33689577G>A	ENST00000590986.1	-	10	2536	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	SLC39A6_ENST00000269187.5_Silent_p.I749I			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	749					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.I749I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TACGAAACACGATTTTATGTT	0.348																																																1	Substitution - coding silent(1)	kidney(1)											89	90	89					18																	33689577		1818	4087	5905	SO:0001819	synonymous_variant	25800			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.2247C>T	18.37:g.33689577G>A			B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	ENST00000590986.1	37	CCDS42428.1																																																																																				0.348	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			A	33689577	G	A	33689577	2	1	193	1	0	0	0	0	0	0	0	1	14628	1048	37	1		1	SLC39A6	18	33689577	Silent	SNP	G	TCGA-B0-5109-01A-02D-1421-08		33689577	44387671	48	11981											
ZNF180	7733	hgsc.bcm.edu;ucsc.edu	37	19	44982265	44982265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr19:44982265delC	ENST00000221327.4	-	5	714	c.433delG	c.(433-435)gatfs	p.D146fs	ZNF180_ENST00000592529.1_Frame_Shift_Del_p.D119fs|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000391956.4_Frame_Shift_Del_p.D121fs	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CAAGGATCATCCCTTGTAAAC	0.388																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)											0													135	135	135					19																	44982265		2203	4300	6503	SO:0001589	frameshift_variant	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.433delG	19.37:g.44982265delC	ENSP00000221327:p.Asp146fs		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Frame_Shift_Del	DEL	ENST00000221327.4	37	CCDS12639.1																																																																																				0.388	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		-	44982265	C	-	44982265	7	5	193	1	0	1	0	1	0	0	0	0	17753	855	30	0	1649	0	ZNF180	19	44982265	Frame_Shift_Del	DEL	C	TCGA-B0-5109-01A-02D-1421-08		44982265	14146718	49	11982											
CSE1L	1434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47682942	47682942	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr20:47682942C>A	ENST00000262982.2	+	5	494	c.371C>A	c.(370-372)cCa>cAa	p.P124Q	CSE1L_ENST00000542325.1_Intron|CSE1L_ENST00000396192.3_Missense_Mutation_p.P124Q	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	124					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.P124Q(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GAAGATTTTCCACAGAAATGG	0.393																																																1	Substitution - Missense(1)	kidney(1)											135	130	132					20																	47682942		2203	4300	6503	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.371C>A	20.37:g.47682942C>A	ENSP00000262982:p.Pro124Gln		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858716	0.91433	.	.	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.74106	-0.81;-0.81	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90937	0.7151	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.93202	0.6592	10	0.87932	D	0	-13.5603	19.5362	0.95254	0.0:1.0:0.0:0.0	.	124;124	F8W904;P55060	.;XPO2_HUMAN	Q	124	ENSP00000262982:P124Q;ENSP00000379495:P124Q	ENSP00000262982:P124Q	P	+	2	0	CSE1L	47116349	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.607000	0.88179	0.557000	0.71058	CCA		0.393	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		A	47682942	C	A	47682942	3	1	193	1	0	0	0	0	1	0	0	0	3932	594	21	4	385	4	CSE1L	20	47682942	Missense_Mutation	SNP	C	TCGA-B0-5109-01A-02D-1421-08		47682942	15342578	50	11983											
RSPH1	89765	hgsc.bcm.edu;ucsc.edu	37	21	43897417	43897417	+	Silent	SNP	G	G	A	rs75626002	byFrequency	TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr21:43897417G>A	ENST00000291536.3	-	7	878	c.711C>T	c.(709-711)gaC>gaT	p.D237D	RSPH1_ENST00000398352.3_Silent_p.D199D	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	237					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CTCCTGGAGCGTCTTGGCCAG	0.622													G|||	12	0.00239617	0.0068	0.0043	5008	,	,		11563	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(23;63 706 6286 10288 12913)											0								G		39,4367	43.1+/-76.7	0,39,2164	168	155	159		711	-8.6	0	21	dbSNP_133	159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RSPH1	NM_080860.2		0,40,6463	AA,AG,GG		0.0116,0.8852,0.3076		237/310	43897417	40,12966	2203	4300	6503	SO:0001819	synonymous_variant	89765			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"meichroacidin"	609314	"testis specific A2 homolog (mouse)"	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.711C>T	21.37:g.43897417G>A			A8MWV0|B2RBN9|Q3MJA1	Silent	SNP	ENST00000291536.3	37	CCDS13688.1																																																																																				0.622	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			A	43897417	G	A	43897417	2	1	193	1	0	0	0	0	0	0	0	1	13708	1136	40	1		1	RSPH1	21	43897417	Silent	SNP	G	TCGA-B0-5109-01A-02D-1421-08		43897417	4232478	51	11984											
TRIOBP	11078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38151617	38151617	+	Nonsense_Mutation	SNP	G	G	T	rs185078175		TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chr22:38151617G>T	ENST00000406386.3	+	15	5893	c.5638G>T	c.(5638-5640)Gag>Tag	p.E1880*	TRIOBP_ENST00000407319.2_Nonsense_Mutation_p.E167*|TRIOBP_ENST00000403663.2_Nonsense_Mutation_p.E167*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1880	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.E1880*(1)|p.E167*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACTGGATCGAGGCTCTGAG	0.582																																																2	Substitution - Nonsense(2)	kidney(2)											123	87	99					22																	38151617		2203	4300	6503	SO:0001587	stop_gained	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5638G>T	22.37:g.38151617G>T	ENSP00000384312:p.Glu1880*		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.95|14.95	2.687603|2.687603	0.48097|0.48097	.|.	.|.	ENSG00000100106|ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857|ENST00000428075	.|.	.|.	.|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73760	.|0.3628	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74662	.|-0.3590	.|3	0.66056|.	D|.	0.02|.	.|.	17.9959|17.9959	0.89184|0.89184	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1880;167;167;126;96|120	.|.	ENSP00000386026:E167X|.	E|R	+|+	1|2	0|0	TRIOBP|TRIOBP	36481563|36481563	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.487000|0.487000	0.33371|0.33371	3.823000|3.823000	0.55715|0.55715	2.310000|2.310000	0.77875|0.77875	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38151617	G	T	38151617	4	4	193	1	0	0	0	0	0	1	0	0	16558	1059	37	4	5875	4	TRIOBP	22	38151617	Nonsense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08		38151617	13152949	52	11985											
CHST7	56548	broad.mit.edu	37	X	46433704	46433704	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5109-01A-02D-1421-08	TCGA-B0-5109-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d6e408-ed00-4e1f-bffa-e73250cfe4a0	d6cfdaff-0147-415a-8b30-aaa03a3a5aee	g.chrX:46433704G>A	ENST00000276055.3	+	1	486	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	113					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)	p.G113D(1)		breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TGGCGCACCGGCTCGTCCTTC	0.612																																																1	Substitution - Missense(1)	kidney(1)											35	32	33					X																	46433704		2203	4300	6503	SO:0001583	missense	56548			AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"Sulfotransferases, membrane-bound"	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.338G>A	X.37:g.46433704G>A	ENSP00000276055:p.Gly113Asp		O75667	Missense_Mutation	SNP	ENST00000276055.3	37	CCDS14268.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.213533	0.79352	.	.	ENSG00000147119	ENST00000276055	D	0.99683	-6.39	4.56	4.56	0.56223	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97328	0.9948	10	0.66056	D	0.02	-19.7706	15.2928	0.73879	0.0:0.0:1.0:0.0	.	113	Q9NS84	CHST7_HUMAN	D	113	ENSP00000276055:G113D	ENSP00000276055:G113D	G	+	2	0	CHST7	46318648	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.263000	0.95617	2.115000	0.64714	0.505000	0.49811	GGC		0.612	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056362.1	NM_019886		A	46433704	G	A	46433704	3	1	193	1	0	0	0	0	1	0	0	0	3411	1203	42	2	340	2	CHST7	23	46433704	Missense_Mutation	SNP	G	TCGA-B0-5109-01A-02D-1421-08		46433704	108836856	53	11986											
AGRN	375790	broad.mit.edu	37	1	985094	985094	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:985094delC	ENST00000379370.2	+	26	4713	c.4663delC	c.(4663-4665)cccfs	p.P1555fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1555	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCCCTGCCTGCCCAACCCCTG	0.721																																																0													5	8	7					1																	985094		2102	4139	6241	SO:0001589	frameshift_variant	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4663delC	1.37:g.985094delC	ENSP00000368678:p.Pro1555fs		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Del	DEL	ENST00000379370.2	37	CCDS30551.1																																																																																				0.721	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		-	985094	C	-	985094	7	5	194	1	0	1	0	1	0	0	0	0	397	739	26	0	4765	0	AGRN	1	985094	Frame_Shift_Del	DEL	C	TCGA-B0-5110-01A-01D-1421-08		985094	248265527	1	11987											
SFRS4	6429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29475063	29475063	+	Silent	SNP	G	G	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:29475063G>C	ENST00000373795.4	-	6	1578	c.1344C>G	c.(1342-1344)tcC>tcG	p.S448S	SRSF4_ENST00000466448.1_5'Flank|SRSF4_ENST00000546138.1_3'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	448	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S448S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GTTTCGATTTGGAATTGGATC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											209	209	209					1																	29475063		2203	4300	6503	SO:0001819	synonymous_variant	6429			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	protein-coding gene	gene with protein product	"SR splicing factor 4"	601940	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1344C>G	1.37:g.29475063G>C			Q5VXP1|Q9BUA4|Q9UEB5	Silent	SNP	ENST00000373795.4	37	CCDS333.1																																																																																				0.512	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		C	29475063	G	C	29475063	2	2	194	1	0	0	0	0	0	0	0	1	14185	1335	47	4		4	SFRS4	1	29475063	Silent	SNP	G	TCGA-B0-5110-01A-01D-1421-08	28489969	29475063	219775558	2	11988											
KIAA0319L	79932	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35917273	35917273	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:35917273C>T	ENST00000325722.3	-	13	2252	c.2018G>A	c.(2017-2019)aGg>aAg	p.R673K	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.R110K|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	673	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R673K(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCAGGTTCCTCTCATCTTT	0.502											OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(2)											188	175	180					1																	35917273		2203	4300	6503	SO:0001583	missense	79932			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2018G>A	1.37:g.35917273C>T	ENSP00000318406:p.Arg673Lys	859	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155145	0.78114	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982;ENST00000440579	T;T;T;T	0.69175	2.6;-0.38;2.6;-0.36	5.98	5.98	0.97165	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	N	0.11000	0.08	0.80722	D	1	D;D;P	0.71674	0.998;0.987;0.702	D;P;B	0.77557	0.99;0.856;0.421	T	0.64002	-0.6509	10	0.16420	T	0.52	-18.2464	19.4463	0.94849	0.0:1.0:0.0:0.0	.	673;673;115	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	K	673;110;673;673	ENSP00000318406:R673K;ENSP00000362363:R110K;ENSP00000395883:R673K;ENSP00000407576:R673K	ENSP00000318406:R673K	R	-	2	0	KIAA0319L	35689860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.826000	0.55738	2.835000	0.97688	0.650000	0.86243	AGG		0.502	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		T	35917273	C	T	35917273	3	4	194	1	0	0	0	0	1	0	0	0	8171	681	24	2	1167	2	KIAA0319L	1	35917273	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	6442210	35917273	213333348	3	11989											
CLCA1	1179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	86947888	86947888	+	Splice_Site	SNP	A	A	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:86947888A>G	ENST00000234701.3	+	6	909	c.558A>G	c.(556-558)agA>agG	p.R186R	CLCA1_ENST00000394711.1_Splice_Site_p.R186R			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	186	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.R186R(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ATATTTTCAGATGTTCAGCAG	0.393																																																1	Substitution - coding silent(1)	kidney(1)											76	70	72					1																	86947888		2203	4300	6503	SO:0001630	splice_region_variant	1179				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.558-1A>G	1.37:g.86947888A>G			B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	CCDS709.1																																																																																				0.393	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	Silent	G	86947888	A	G	86947888	5	3	194	1	0	0	0	0	0	0	1	0	3459	347	12	3	576	3	CLCA1	1	86947888	Splice_Site	SNP	A	TCGA-B0-5110-01A-01D-1421-08	51030615	86947888	162302733	4	11990											
PRMT6	55170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	107599560	107599560	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:107599560C>A	ENST00000370078.1	+	1	260	c.223C>A	c.(223-225)Ctt>Att	p.L75I	PRMT6_ENST00000361318.5_Missense_Mutation_p.L16I			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	75	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)	p.L16I(1)		biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CCTGGGTATCCTTCGGAACTG	0.662																																																1	Substitution - Missense(1)	kidney(1)											37	44	42					1																	107599560		2058	4173	6231	SO:0001583	missense	55170			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"Protein arginine methyltransferases"	18241	protein-coding gene	gene with protein product		608274	"HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.223C>A	1.37:g.107599560C>A	ENSP00000359095:p.Leu75Ile		A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	9.958	1.222117	0.22457	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.25749	1.78;1.78	5.11	3.22	0.36961	.	0.176529	0.38217	N	0.001778	T	0.06508	0.0167	L	0.28014	0.82	0.31162	N	0.704278	B	0.28933	0.228	B	0.28553	0.091	T	0.21042	-1.0257	10	0.40728	T	0.16	-5.378	7.8892	0.29667	0.1607:0.7546:0.0:0.0847	.	75	Q96LA8	ANM6_HUMAN	I	16;75	ENSP00000355145:L16I;ENSP00000359095:L75I	ENSP00000355145:L16I	L	+	1	0	PRMT6	107401083	0.678000	0.27586	0.993000	0.49108	0.001000	0.01503	0.583000	0.23849	0.707000	0.31934	-0.277000	0.10078	CTT		0.662	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		A	107599560	C	A	107599560	3	1	194	1	0	0	0	0	1	0	0	0	12545	681	24	4	225	4	PRMT6	1	107599560	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	20651672	107599560	141651061	5	11991											
KRTCAP2	80128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155145769	155145771	+	5'Flank	DEL	CTA	CTA	-	rs145673508		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	CTA	CTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:155145769_155145771delCTA	ENST00000334634.4	+	0	0				TRIM46_ENST00000392451.2_5'Flank|TRIM46_ENST00000545012.1_5'Flank|KRTCAP2_ENST00000490672.1_5'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_5'Flank|TRIM46_ENST00000543729.1_5'Flank|TRIM46_ENST00000368385.4_5'Flank|KRTCAP2_ENST00000295682.4_In_Frame_Del_p.3_4IA>T|TRIM46_ENST00000368382.1_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGCGGTTAGCTATGCGCATGCG	0.635											OREG0013854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001631	upstream_gene_variant	200185				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155145769_155145771delCTA	Exception_encountered	1768	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	In_Frame_Del	DEL	ENST00000334634.4	37	CCDS1097.1																																																																																				0.635	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		-	155145771	CTA	-	155145769	6	5	194	0	1	1	0	1	0	0	0	0	8580	797	28	0		0	KRTCAP2	1	155145769	5'Flank	DEL	CTA	TCGA-B0-5110-01A-01D-1421-08	47546209	155145769	94104852	6	11992											
GBA	2629	broad.mit.edu	37	1	155205493	155205493	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:155205493A>T	ENST00000327247.5	-	10	1599	c.1367T>A	c.(1366-1368)tTc>tAc	p.F456Y	GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Missense_Mutation_p.F369Y|GBA_ENST00000427500.3_Missense_Mutation_p.F407Y|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Missense_Mutation_p.F456Y|GBA_ENST00000536770.1_Missense_Mutation_p.F343Y	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	456			F -> V (in GD).		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.F456Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	AAGGTGGTAGAACATGGGCTG	0.532									Gaucher disease type I																																							1	Substitution - Missense(1)	kidney(1)											111	83	93					1																	155205493		2203	4299	6502	SO:0001583	missense	2629	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1367T>A	1.37:g.155205493A>T	ENSP00000314508:p.Phe456Tyr		A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	18.91	3.723192	0.68959	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99552	-6.15;-6.15;-6.15;-6.15;-6.15	3.53	3.53	0.40419	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.97654	0.9231	N	0.16130	0.375	0.58432	D	0.999993	P;P;P	0.45044	0.688;0.818;0.849	P;P;P	0.52627	0.669;0.704;0.647	D	0.97559	1.0097	10	0.28530	T	0.3	.	10.3278	0.43805	1.0:0.0:0.0:0.0	.	407;343;456	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	Y	407;369;456;456;343;413;441	ENSP00000402577:F407Y;ENSP00000397986:F369Y;ENSP00000357357:F456Y;ENSP00000314508:F456Y;ENSP00000445560:F343Y	ENSP00000314508:F456Y	F	-	2	0	GBA	153472117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.533000	0.90617	1.600000	0.50102	0.392000	0.25879	TTC		0.532	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		T	155205493	A	T	155205493	3	4	194	1	0	0	0	0	1	0	0	0	6268	246	9	5	255	5	GBA	1	155205493	Missense_Mutation	SNP	A	TCGA-B0-5110-01A-01D-1421-08	59724	155205493	94045128	7	11993											
FAM5B	57795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	177250548	177250548	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:177250548C>T	ENST00000361539.4	+	8	2548	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	746					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.R746W(1)									CTGCTTGCTCCGGCATCGGCT	0.557																																																1	Substitution - Missense(1)	kidney(1)											81	75	77					1																	177250548		2203	4300	6503	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2236C>T	1.37:g.177250548C>T	ENSP00000354481:p.Arg746Trp		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184485	0.78677	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.19105	2.17	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.48917	-0.8992	10	0.87932	D	0	-25.3023	17.9969	0.89187	0.0:1.0:0.0:0.0	.	641;746	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	W	499;746	ENSP00000354481:R746W	ENSP00000354481:R746W	R	+	1	2	FAM5B	175517171	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.767000	0.62286	2.346000	0.79739	0.313000	0.20887	CGG		0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		T	177250548	C	T	177250548	3	4	194	1	0	0	0	0	1	0	0	0	5595	643	23	1	2262	1	FAM5B	1	177250548	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	22045055	177250548	72000073	8	11994											
SIPA1L2	57568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	232538143	232538143	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:232538143G>A	ENST00000366630.1	-	21	5375	c.5017C>T	c.(5017-5019)Cgg>Tgg	p.R1673W	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R729W|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1673W			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1673					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.R1673W(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATTACCTTCCGAAGGTCGGTC	0.393																																																1	Substitution - Missense(1)	kidney(1)											128	121	123					1																	232538143		1836	4083	5919	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.5017C>T	1.37:g.232538143G>A	ENSP00000355589:p.Arg1673Trp		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332936	0.41297	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.80123	-1.34;-1.34;2.6	5.38	4.46	0.54185	.	0.119442	0.53938	D	0.000043	D	0.82779	0.5111	L	0.47716	1.5	0.23795	N	0.996824	D;D	0.64830	0.99;0.994	B;P	0.55260	0.306;0.772	T	0.76774	-0.2835	10	0.72032	D	0.01	-9.4566	14.3147	0.66440	0.0:0.0:0.7167:0.2833	.	1673;729	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	W	1673;1673;729	ENSP00000355589:R1673W;ENSP00000262861:R1673W;ENSP00000309102:R729W	ENSP00000262861:R1673W	R	-	1	2	SIPA1L2	230604766	1.000000	0.71417	0.298000	0.25002	0.016000	0.09150	3.852000	0.55934	1.495000	0.48549	0.585000	0.79938	CGG		0.393	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		A	232538143	G	A	232538143	3	1	194	1	0	0	0	0	1	0	0	0	14336	1057	37	1	159	1	SIPA1L2	1	232538143	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	55287595	232538143	16712478	9	11995											
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32631593	32631593	+	Missense_Mutation	SNP	G	G	A	rs550400928		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr2:32631593G>A	ENST00000421745.2	+	9	1579	c.1445G>A	c.(1444-1446)aGt>aAt	p.S482N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	482					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.S454N(1)|p.S482N(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATTCAGACAGTGAAGAGCAT	0.289													G|||	1	0.000199681	0.0	0.0	5008	,	,		19902	0.0		0.0	False		,,,				2504	0.001				Pancreas(94;175 1509 16028 18060 45422)											2	Substitution - Missense(2)	kidney(2)											74	80	78					2																	32631593		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1445G>A	2.37:g.32631593G>A	ENSP00000393596:p.Ser482Asn		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782017	0.90282	.	.	ENSG00000115760	ENST00000421745	T	0.77877	-1.13	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	L	0.36672	1.1	0.58432	D	0.999994	B	0.33694	0.421	B	0.26969	0.075	T	0.71823	-0.4476	10	0.59425	D	0.04	.	19.4888	0.95042	0.0:0.0:1.0:0.0	.	482	Q9NR09	BIRC6_HUMAN	N	482	ENSP00000393596:S482N	ENSP00000393596:S482N	S	+	2	0	BIRC6	32485097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.607000	0.88179	0.585000	0.79938	AGT		0.289	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		A	32631593	G	A	32631593	3	1	194	1	0	0	0	0	1	0	0	0	1438	1029	36	2	1479	2	BIRC6	2	32631593	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08		32631593	210567780	10	11996											
EHBP1	23301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63101527	63101527	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr2:63101527T>A	ENST00000263991.5	+	11	1632	c.1150T>A	c.(1150-1152)Ttg>Atg	p.L384M	EHBP1_ENST00000405015.3_Missense_Mutation_p.L349M|EHBP1_ENST00000354487.3_Missense_Mutation_p.L349M|EHBP1_ENST00000405289.1_Missense_Mutation_p.L349M|EHBP1_ENST00000431489.1_Missense_Mutation_p.L349M	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	384						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.L384M(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCCAAATAATTTGGTAAATCC	0.353																																																1	Substitution - Missense(1)	kidney(1)											86	94	91					2																	63101527		2203	4300	6503	SO:0001583	missense	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1150T>A	2.37:g.63101527T>A	ENSP00000263991:p.Leu384Met		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.051444	0.55218	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.78;-0.78	5.13	5.13	0.70059	.	0.555074	0.17714	N	0.164465	T	0.71204	0.3312	L	0.40543	1.245	0.26771	N	0.96981	P;B;P	0.47409	0.895;0.32;0.832	P;B;B	0.50136	0.632;0.176;0.332	T	0.65076	-0.6256	10	0.48119	T	0.1	.	7.944	0.29976	0.0:0.0932:0.0:0.9067	.	349;349;384	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	M	349;349;384;349;349	ENSP00000384143:L349M;ENSP00000403783:L349M;ENSP00000263991:L384M;ENSP00000346482:L349M;ENSP00000385524:L349M	ENSP00000263991:L384M	L	+	1	2	EHBP1	62955031	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.680000	0.37607	2.068000	0.61886	0.528000	0.53228	TTG		0.353	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		A	63101527	T	A	63101527	3	1	194	1	0	0	0	0	1	0	0	0	4977	1838	64	5	1188	5	EHBP1	2	63101527	Missense_Mutation	SNP	T	TCGA-B0-5110-01A-01D-1421-08	30469934	63101527	180097846	11	11997											
KDM3A	55818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	86712976	86712976	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr2:86712976G>A	ENST00000409556.1	+	22	3672	c.3307G>A	c.(3307-3309)Gct>Act	p.A1103T	KDM3A_ENST00000542128.1_Missense_Mutation_p.A1051T|KDM3A_ENST00000409064.1_Missense_Mutation_p.A1103T|KDM3A_ENST00000312912.5_Missense_Mutation_p.A1103T			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1103	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A1103T(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GATGTATAATGCTTATGGTAA	0.438																																					NSCLC(96;1150 1523 6936 46253 49736)											2	Substitution - Missense(2)	kidney(2)											70	67	68					2																	86712976		2203	4300	6503	SO:0001583	missense	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3307G>A	2.37:g.86712976G>A	ENSP00000386660:p.Ala1103Thr		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565116	0.96527	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.73	5.73	0.89815	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.93099	0.7803	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93711	0.7024	10	0.87932	D	0	.	19.2479	0.93909	0.0:0.0:1.0:0.0	.	1051;1103	F5H070;Q9Y4C1	.;KDM3A_HUMAN	T	1103;1103;1103;1103;1051	ENSP00000386660:A1103T;ENSP00000323659:A1103T;ENSP00000386516:A1103T;ENSP00000438324:A1051T	ENSP00000323659:A1103T	A	+	1	0	KDM3A	86566487	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	GCT		0.438	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		A	86712976	G	A	86712976	3	1	194	1	0	0	0	0	1	0	0	0	8128	1319	46	2	3385	2	KDM3A	2	86712976	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	23611449	86712976	156486397	12	11998											
THSD7B	80731	hgsc.bcm.edu;ucsc.edu	37	2	137917883	137917884	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr2:137917883_137917884delGT	ENST00000409968.1	+	6	1648_1649	c.1470_1471delGT	c.(1468-1473)tggtcafs	p.WS490fs	THSD7B_ENST00000413152.2_Frame_Shift_Del_p.WS459fs|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Frame_Shift_Del_p.WS490fs			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	490	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.S491A(1)|p.S460A(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TATCTTCCTGGTCAGCCTGGGG	0.515																																																2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1470_1471delGT	2.37:g.137917883_137917884delGT	ENSP00000387145:p.Trp490fs			Frame_Shift_Del	DEL	ENST00000409968.1	37																																																																																					0.515	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		-	137917884	GT	-	137917883	7	5	194	1	0	1	0	1	0	0	0	0	15885	1270	44	0	1395	0	THSD7B	2	137917883	Frame_Shift_Del	DEL	GT	TCGA-B0-5110-01A-01D-1421-08	51204907	137917883	105281490	13	11999											
GLB1	2720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33093265	33093265	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr3:33093265A>C	ENST00000399402.3	-	9	981	c.850T>G	c.(850-852)Ttt>Gtt	p.F284V	GLB1_ENST00000307377.8_Missense_Mutation_p.F183V|GLB1_ENST00000307363.5_Missense_Mutation_p.F314V|GLB1_ENST00000445488.2_Missense_Mutation_p.F362V	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	314					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.F314V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CAATAGGCAAAATTGGTCCCA	0.433																																																1	Substitution - Missense(1)	kidney(1)											86	82	83					3																	33093265		1872	4106	5978	SO:0001583	missense	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.850T>G	3.37:g.33093265A>C	ENSP00000382333:p.Phe284Val		B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812822	0.90707	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377;ENST00000415454	D;D;D;D;D	0.99207	-5.56;-5.56;-5.56;-5.56;-5.56	5.71	5.71	0.89125	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.98738	4.315	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.97133	0.9819	10	0.87932	D	0	-23.0575	15.6498	0.77081	1.0:0.0:0.0:0.0	.	314;183;314;362	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	V	284;314;362;183;155	ENSP00000382333:F284V;ENSP00000306920:F314V;ENSP00000393377:F362V;ENSP00000305920:F183V;ENSP00000411813:F155V	ENSP00000306920:F314V	F	-	1	0	GLB1	33068269	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.821000	0.92009	2.172000	0.68678	0.533000	0.62120	TTT		0.433	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		C	33093265	A	C	33093265	3	2	194	1	0	0	0	0	1	0	0	0	6429	14	1	5	1125	5	GLB1	3	33093265	Missense_Mutation	SNP	A	TCGA-B0-5110-01A-01D-1421-08		33093265	164929165	14	12000											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52595863	52595864	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	TC	TC	TC	-	TC	TC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr3:52595863_52595864delTC	ENST00000296302.7	-	25	4208_4209	c.4207_4208delGA	c.(4207-4209)gacfs	p.D1403fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.D1351fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.D1418fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.D1371fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.D1403fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.D1378fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.D1418fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.D1403fs|RNU6ATAC16P_ENST00000408591.1_RNA|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1403					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAAAGAGTAGTCTGGGTGTTGG	0.5			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4207_4208delGA	3.37:g.52595863_52595864delTC	ENSP00000296302:p.Asp1403fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.5	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52595864	TC	-	52595863	7	5	194	1	0	1	0	1	0	0	0	0	11493	1667	58	0	716	0	PBRM1	3	52595863	Frame_Shift_Del	DEL	TC	TCGA-B0-5110-01A-01D-1421-08	19502598	52595863	145426567	15	12001											
KLHL6	89857	broad.mit.edu;ucsc.edu	37	3	183211912	183211912	+	Silent	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr3:183211912G>T	ENST00000341319.3	-	5	1340	c.1305C>A	c.(1303-1305)atC>atA	p.I435I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	435					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.I435I(1)		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)			CCACATTGTTGATTCTCTGTA	0.453																																																1	Substitution - coding silent(1)	kidney(1)											256	239	245					3																	183211912		2203	4300	6503	SO:0001819	synonymous_variant	89857			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.1305C>A	3.37:g.183211912G>T			B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	CCDS3245.2																																																																																				0.453	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		T	183211912	G	T	183211912	2	4	194	1	0	0	0	0	0	0	0	1	8395	1280	45	4		4	KLHL6	3	183211912	Silent	SNP	G	TCGA-B0-5110-01A-01D-1421-08	130616049	183211912	14810518	16	12002											
HGFAC	3083	broad.mit.edu;ucsc.edu	37	4	3446996	3446996	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr4:3446996delC	ENST00000382774.3	+	9	1136	c.1021delC	c.(1021-1023)ccgfs	p.P341fs	HGFAC_ENST00000511533.1_Frame_Shift_Del_p.P341fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	341	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCGCAGGAATCCGGACAATGA	0.697																																																0													43	32	36					4																	3446996		2183	4288	6471	SO:0001589	frameshift_variant	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1021delC	4.37:g.3446996delC	ENSP00000372224:p.Pro341fs		Q14726|Q2M1W7|Q53X47	Frame_Shift_Del	DEL	ENST00000382774.3	37	CCDS3369.1																																																																																				0.697	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			-	3446996	C	-	3446996	7	5	194	1	0	1	0	1	0	0	0	0	7088	855	30	0	1055	0	HGFAC	4	3446996	Frame_Shift_Del	DEL	C	TCGA-B0-5110-01A-01D-1421-08		3446996	187707280	17	12003											
MAN2B2	23324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	6611625	6611625	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr4:6611625G>C	ENST00000285599.3	+	13	2143	c.2107G>C	c.(2107-2109)Gag>Cag	p.E703Q	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.E652Q	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	703					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.E703Q(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GATAGAGCAGGAGTACCAAGC	0.592																																																1	Substitution - Missense(1)	kidney(1)											63	64	64					4																	6611625		2203	4300	6503	SO:0001583	missense	23324			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2107G>C	4.37:g.6611625G>C	ENSP00000285599:p.Glu703Gln		Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.316|7.316	0.615977|0.615977	0.14129|0.14129	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	D;D|.	0.82619|.	-1.63;-1.63|.	4.28|4.28	0.323|0.323	0.15893|0.15893	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	0.412203|.	0.27185|.	N|.	0.020522|.	T|T	0.32406|0.32406	0.0828|0.0828	L|L	0.39147|0.39147	1.195|1.195	0.22982|0.22982	N|N	0.998477|0.998477	B;B;B|.	0.31153|.	0.31;0.31;0.268|.	B;B;B|.	0.35312|.	0.2;0.2;0.16|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|5	0.40728|.	T|.	0.16|.	-19.3116|-19.3116	4.9723|4.9723	0.14123|0.14123	0.2466:0.3068:0.4466:0.0|0.2466:0.3068:0.4466:0.0	.|.	652;703;703|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	Q|S	703;652|701	ENSP00000285599:E703Q;ENSP00000423129:E652Q|.	ENSP00000285599:E703Q|.	E|R	+|+	1|3	0|2	MAN2B2|MAN2B2	6662526|6662526	1.000000|1.000000	0.71417|0.71417	0.631000|0.631000	0.29282|0.29282	0.054000|0.054000	0.15201|0.15201	2.613000|2.613000	0.46351|0.46351	-0.330000|-0.330000	0.08514|0.08514	-0.308000|-0.308000	0.09152|0.09152	GAG|AGG		0.592	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		C	6611625	G	C	6611625	3	2	194	1	0	0	0	0	1	0	0	0	9219	1175	41	4	2157	4	MAN2B2	4	6611625	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	3164629	6611625	184542651	18	12004											
KCTD8	386617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	44450161	44450161	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr4:44450161T>C	ENST00000360029.3	-	1	663	c.380A>G	c.(379-381)aAg>aGg	p.K127R	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	127					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.K127R(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CAGCCGCTCCTTCTCGGGGAA	0.617										HNSCC(17;0.042)																																						1	Substitution - Missense(1)	kidney(1)											23	22	23					4																	44450161		2170	4251	6421	SO:0001583	missense	386617			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.380A>G	4.37:g.44450161T>C	ENSP00000353129:p.Lys127Arg		A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	T	3.182	-0.167628	0.06461	.	.	ENSG00000183783	ENST00000360029	T	0.40756	1.02	4.03	2.85	0.33270	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.073501	0.53938	D	0.000056	T	0.19765	0.0475	N	0.10782	0.045	0.26983	N	0.965325	B	0.13594	0.008	B	0.15484	0.013	T	0.21415	-1.0246	10	0.12430	T	0.62	.	8.405	0.32610	0.0:0.0947:0.0:0.9053	.	127	Q6ZWB6	KCTD8_HUMAN	R	127	ENSP00000353129:K127R	ENSP00000353129:K127R	K	-	2	0	KCTD8	44144918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.457000	0.45005	0.615000	0.30124	0.477000	0.44152	AAG		0.617	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			C	44450161	T	C	44450161	3	2	194	1	0	0	0	0	1	0	0	0	8117	1609	56	3	1049	3	KCTD8	4	44450161	Missense_Mutation	SNP	T	TCGA-B0-5110-01A-01D-1421-08	37838536	44450161	146704115	19	12005											
OTUD4	54726	broad.mit.edu;hgsc.bcm.edu	37	4	146063450	146063450	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr4:146063450G>A	ENST00000447906.2	-	18	1907	c.1720C>T	c.(1720-1722)Ccc>Tcc	p.P574S	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.P509S			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	574					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.P508S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTAGAAGGGGAGCTGGATTT	0.478																																																1	Substitution - Missense(1)	kidney(1)											123	131	129					4																	146063450		2203	4300	6503	SO:0001583	missense	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1720C>T	4.37:g.146063450G>A	ENSP00000395487:p.Pro574Ser		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	G	18.04	3.534047	0.64972	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.32515	1.46;1.45	6.16	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.62298	0.9;0.796	T	0.01553	-1.1326	10	0.06891	T	0.86	-8.3607	15.2384	0.73450	0.0:0.254:0.746:0.0	.	574;573	G3V0I6;Q01804	.;OTUD4_HUMAN	S	509;574	ENSP00000409279:P509S;ENSP00000395487:P574S	ENSP00000395487:P574S	P	-	1	0	OTUD4	146282900	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.508000	0.45450	2.937000	0.99478	0.650000	0.86243	CCC		0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		A	146063450	G	A	146063450	3	1	194	1	0	0	0	0	1	0	0	0	11316	1174	41	2	1640	2	OTUD4	4	146063450	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	101613289	146063450	45090826	20	12006											
CCNC	892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	100009547	100009547	+	Silent	SNP	T	T	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr6:100009547T>A	ENST00000520429.1	-	3	595	c.150A>T	c.(148-150)gcA>gcT	p.A50A	CCNC_ENST00000523985.1_5'UTR|CCNC_ENST00000369220.4_Silent_p.A50A|CCNC_ENST00000520371.1_Silent_p.A50A|CCNC_ENST00000523799.1_5'UTR|CCNC_ENST00000482541.2_Silent_p.A50A|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000518714.1_Silent_p.A50A	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	50	Cyclin N-terminal.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)		p.A50A(1)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		GTTCACCTAATGCTTGGATAA	0.279																																					GBM(57;273 1020 40094 44454 49348)											1	Substitution - coding silent(1)	kidney(1)											83	93	90					6																	100009547		2203	4298	6501	SO:0001819	synonymous_variant	892				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.150A>T	6.37:g.100009547T>A			B4DPZ1|Q9H543	Silent	SNP	ENST00000520429.1	37	CCDS34502.1																																																																																				0.279	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041613.2	NM_005190		A	100009547	T	A	100009547	2	1	194	1	0	0	0	0	0	0	0	1	2917	1451	51	5		5	CCNC	6	100009547	Silent	SNP	T	TCGA-B0-5110-01A-01D-1421-08		100009547	71105520	21	12007											
KATNA1	11104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	149944376	149944376	+	Missense_Mutation	SNP	C	C	A	rs142263647		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr6:149944376C>A	ENST00000335647.5	-	3	408	c.364G>T	c.(364-366)Gac>Tac	p.D122Y	KATNA1_ENST00000367411.2_Missense_Mutation_p.D122Y|KATNA1_ENST00000494504.1_5'Flank|KATNA1_ENST00000335643.8_Missense_Mutation_p.D122Y					katanin p60 (ATPase containing) subunit A 1									p.D122Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GATTTAGGGTCACTGTACTGA	0.418																																																1	Substitution - Missense(1)	kidney(1)											224	170	188					6																	149944376		2203	4300	6503	SO:0001583	missense	11104			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"ATPases / AAA-type"	6216	protein-coding gene	gene with protein product		606696	"katanin p60 (ATPase-containing) subunit A 1"			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.364G>T	6.37:g.149944376C>A	ENSP00000335106:p.Asp122Tyr			Missense_Mutation	SNP	ENST00000335647.5	37	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238859	0.79800	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411;ENST00000444282;ENST00000420200	D;D;D;D	0.95788	-3.4;-3.5;-3.4;-3.81	6.08	6.08	0.98989	.	0.359941	0.33938	N	0.004419	D	0.94941	0.8364	L	0.54323	1.7	0.80722	D	1	P;P;P	0.49559	0.604;0.925;0.61	P;P;B	0.49953	0.498;0.627;0.265	D	0.93339	0.6708	9	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	122;122;122	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	Y	122	ENSP00000335106:D122Y;ENSP00000335180:D122Y;ENSP00000356381:D122Y;ENSP00000390322:D122Y	.	D	-	1	0	KATNA1	149986069	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	4.959000	0.63666	2.894000	0.99253	0.591000	0.81541	GAC		0.418	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		A	149944376	C	A	149944376	3	1	194	1	0	0	0	0	1	0	0	0	7986	826	29	4	1143	4	KATNA1	6	149944376	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	49934829	149944376	21170691	22	12008											
AKAP9	10142	hgsc.bcm.edu;ucsc.edu	37	7	91708532	91708532	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr7:91708532delA	ENST00000359028.2	+	32	7346	c.7121delA	c.(7120-7122)gaafs	p.E2374fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E2362fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E2374fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2374	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCAACAGGAATTGGCAAAT	0.358			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													95	92	93					7																	91708532		2203	4300	6503	SO:0001589	frameshift_variant	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7121delA	7.37:g.91708532delA	ENSP00000351922:p.Glu2374fs		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37																																																																																					0.358	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		-	91708532	A	-	91708532	7	5	194	1	0	1	0	1	0	0	0	0	459	246	9	0	7207	0	AKAP9	7	91708532	Frame_Shift_Del	DEL	A	TCGA-B0-5110-01A-01D-1421-08		91708532	67430131	23	12009											
SOX7	83595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	10583337	10583337	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr8:10583337C>A	ENST00000304501.1	-	2	1156	c.1078G>T	c.(1078-1080)Gtg>Ttg	p.V360L	SOX7_ENST00000553390.1_Missense_Mutation_p.V412L|SOX7_ENST00000554914.1_Missense_Mutation_p.V412L	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	360	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V360L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GTTGGTGTCACCTGGGAGACC	0.592																																																1	Substitution - Missense(1)	kidney(1)											76	70	72					8																	10583337		2203	4300	6503	SO:0001583	missense	83595			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.1078G>T	8.37:g.10583337C>A	ENSP00000301921:p.Val360Leu		B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	C	1.764	-0.486007	0.04352	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.76186	-1.0;-1.0;-1.0	4.53	2.74	0.32292	.	0.770706	0.11610	U	0.546869	T	0.44644	0.1303	N	0.02751	-0.505	0.24250	N	0.995323	P;B	0.35656	0.514;0.004	B;B	0.32090	0.14;0.018	T	0.28170	-1.0052	10	0.11182	T	0.66	.	8.205	0.31449	0.0:0.7324:0.0:0.2676	.	412;360	B4DKV0;Q9BT81	.;SOX7_HUMAN	L	360;412;412	ENSP00000301921:V360L;ENSP00000452017:V412L;ENSP00000451145:V412L	ENSP00000346908:V412L	V	-	1	0	SOX7;CTD-2135J3.4	10620747	0.269000	0.24143	1.000000	0.80357	0.493000	0.33554	0.808000	0.27154	0.527000	0.28560	-0.254000	0.11334	GTG		0.592	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			A	10583337	C	A	10583337	3	1	194	1	0	0	0	0	1	0	0	0	14962	507	18	4	92	4	SOX7	8	10583337	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08		10583337	135780685	24	12010											
HR	55806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	21985225	21985225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr8:21985225C>A	ENST00000381418.4	-	3	2210	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Nonsense_Mutation_p.E244*	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	244					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E244*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GAAGGGCGTTCGGCCTCCCCG	0.632																																																1	Substitution - Nonsense(1)	kidney(1)											79	92	87					8																	21985225		2203	4300	6503	SO:0001587	stop_gained	55806			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.730G>T	8.37:g.21985225C>A	ENSP00000370826:p.Glu244*		Q6GS30|Q96H33|Q9NPE1	Nonsense_Mutation	SNP	ENST00000381418.4	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	46	12.806780	0.99698	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	.	.	.	5.5	4.62	0.57501	.	0.304535	0.28247	N	0.016055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-5.3025	12.6878	0.56958	0.0:0.8343:0.1657:0.0	.	.	.	.	X	244	.	ENSP00000326765:E244X	E	-	1	0	HR	22041170	0.082000	0.21442	0.025000	0.17156	0.002000	0.02628	2.541000	0.45735	1.445000	0.47624	0.462000	0.41574	GAA		0.632	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			A	21985225	C	A	21985225	4	1	194	1	0	0	0	0	0	1	0	0	7349	893	31	4	2907	4	HR	8	21985225	Nonsense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	11401888	21985225	124378797	25	12011											
PURG	29942	broad.mit.edu	37	8	30889379	30889379	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr8:30889379C>G	ENST00000475541.1	-	1	1852	c.920G>C	c.(919-921)tGg>tCg	p.W307S	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Intron	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	307						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AAACCTTGTCCAAGCTTTGAA	0.388																																																0													69	71	70					8																	30889379		1327	2309	3636	SO:0001583	missense	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.920G>C	8.37:g.30889379C>G	ENSP00000418721:p.Trp307Ser		Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609332	0.66558	.	.	ENSG00000172733	ENST00000475541	T	0.32023	1.47	5.2	5.2	0.72013	.	.	.	.	.	T	0.63058	0.2479	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.70583	-0.4832	9	0.87932	D	0	.	18.3339	0.90280	0.0:1.0:0.0:0.0	.	307	Q9UJV8	PURG_HUMAN	S	307	ENSP00000418721:W307S	ENSP00000418721:W307S	W	-	2	0	PURG	31008921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.419000	0.82065	0.655000	0.94253	TGG		0.388	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		G	30889379	C	G	30889379	3	3	194	1	0	0	0	0	1	0	0	0	12835	595	21	4	236	4	PURG	8	30889379	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	8904154	30889379	115474643	26	12012											
LRRCC1	85444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	86047101	86047101	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr8:86047101A>G	ENST00000360375.3	+	13	2137	c.1988A>G	c.(1987-1989)aAt>aGt	p.N663S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.N643S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	663					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N643S(1)|p.N663S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GGTTTTGAAAATGTTGCAACT	0.308																																																2	Substitution - Missense(2)	kidney(2)											60	57	58					8																	86047101		1808	4064	5872	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1988A>G	8.37:g.86047101A>G	ENSP00000353538:p.Asn663Ser		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114331	0.37339	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.29397	1.57;1.57	5.71	3.35	0.38373	.	0.352416	0.20738	N	0.086596	T	0.27241	0.0668	L	0.60455	1.87	0.27516	N	0.95156	B;B;B;B	0.24426	0.103;0.084;0.103;0.009	B;B;B;B	0.19391	0.025;0.015;0.025;0.007	T	0.18272	-1.0342	10	0.21540	T	0.41	-12.7818	9.8798	0.41227	0.8622:0.0:0.1378:0.0	.	570;643;570;663	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	S	663;643	ENSP00000353538:N663S;ENSP00000394695:N643S	ENSP00000353538:N663S	N	+	2	0	LRRCC1	86234353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.225000	0.42954	0.447000	0.26695	0.533000	0.62120	AAT		0.308	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		G	86047101	A	G	86047101	3	3	194	1	0	0	0	0	1	0	0	0	9028	101	4	3	2038	3	LRRCC1	8	86047101	Missense_Mutation	SNP	A	TCGA-B0-5110-01A-01D-1421-08	55157722	86047101	60316921	27	12013											
BSPRY	54836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116132237	116132237	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr9:116132237C>A	ENST00000374183.4	+	6	1063	c.1024C>A	c.(1024-1026)Cac>Aac	p.H342N	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	342	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.H342N(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CAATGGGCAGCACGAGCCCCT	0.612																																																1	Substitution - Missense(1)	kidney(1)											42	42	42					9																	116132237		1961	4142	6103	SO:0001583	missense	54836			AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.1024C>A	9.37:g.116132237C>A	ENSP00000363298:p.His342Asn		B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247793	0.39697	.	.	ENSG00000119411	ENST00000374183	T	0.68331	-0.32	5.69	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.255347	0.46758	D	0.000272	T	0.57799	0.2078	L	0.45228	1.405	0.37102	D	0.89995	B	0.23540	0.087	B	0.23716	0.048	T	0.57562	-0.7790	10	0.21540	T	0.41	-0.1122	14.6418	0.68732	0.0:0.9179:0.0:0.0821	.	342	Q5W0U4	BSPRY_HUMAN	N	342	ENSP00000363298:H342N	ENSP00000363298:H342N	H	+	1	0	BSPRY	115172058	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.470000	0.45119	2.688000	0.91661	0.561000	0.74099	CAC		0.612	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		A	116132237	C	A	116132237	3	1	194	1	0	0	0	0	1	0	0	0	1534	710	25	4	1046	4	BSPRY	9	116132237	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08		116132237	25081194	28	12014											
FAM21B	387680	hgsc.bcm.edu	37	10	47909179	47909181	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	ATA	ATA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr10:47909179_47909181delATA	ENST00000358474.5	+	10	749_751	c.749_751delATA	c.(748-753)gataac>gac	p.N251del		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		251					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GATGAAGAGGATAACTTATTCAC	0.502																																																0																																										SO:0001651	inframe_deletion	55747																														ENST00000358474.5:c.749_751delATA	10.37:g.47909179_47909181delATA	ENSP00000351259:p.Asn251del			In_Frame_Del	DEL	ENST00000358474.5	37	CCDS44379.1																																																																																				0.502	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			-	47909181	ATA	-	47909179	7	5	194	1	0	1	0	1	0	0	0	0	5543	333	12	0	787	0	FAM21B	10	47909179	In_Frame_Del	DEL	ATA	TCGA-B0-5110-01A-01D-1421-08		47909179	87625568	29	12015											
MYOF	26509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	95076526	95076526	+	Silent	SNP	G	G	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr10:95076526G>C	ENST00000359263.4	-	50	5642	c.5643C>G	c.(5641-5643)ccC>ccG	p.P1881P	MYOF_ENST00000358334.5_Silent_p.P1868P|MYOF_ENST00000371501.4_Silent_p.P1881P|MYOF_ENST00000371502.4_Silent_p.P1871P	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1881					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.P1881P(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGATCAGCCTGGGTGGGATTC	0.408																																																1	Substitution - coding silent(1)	kidney(1)											133	124	127					10																	95076526		1862	4099	5961	SO:0001819	synonymous_variant	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5643C>G	10.37:g.95076526G>C			B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	CCDS41551.1																																																																																				0.408	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		C	95076526	G	C	95076526	2	2	194	1	0	0	0	0	0	0	0	1	10091	1335	47	4		4	MYOF	10	95076526	Silent	SNP	G	TCGA-B0-5110-01A-01D-1421-08	47167347	95076526	40458221	30	12016											
PIK3AP1	118788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	98405300	98405300	+	Silent	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr10:98405300G>A	ENST00000339364.5	-	8	1424	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Silent_p.L257L	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	435					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.L435L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGCCGGGGTTGAGCGAGCATT	0.537																																																1	Substitution - coding silent(1)	kidney(1)											149	124	132					10																	98405300		2203	4300	6503	SO:0001819	synonymous_variant	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1305C>T	10.37:g.98405300G>A			Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	CCDS31259.1																																																																																				0.537	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		A	98405300	G	A	98405300	2	1	194	1	0	0	0	0	0	0	0	1	11910	1277	45	2		2	PIK3AP1	10	98405300	Silent	SNP	G	TCGA-B0-5110-01A-01D-1421-08	3328774	98405300	37129447	31	12017											
C10orf62	414157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99350271	99350271	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr10:99350271G>C	ENST00000370640.3	+	1	822	c.617G>C	c.(616-618)aGt>aCt	p.S206T	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	206	His-rich.							p.S206T(1)		endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		AGTCACCACAGTCACCATGGC	0.537																																																1	Substitution - Missense(1)	kidney(1)											80	72	75					10																	99350271		2203	4300	6503	SO:0001583	missense	414157				CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.617G>C	10.37:g.99350271G>C	ENSP00000359674:p.Ser206Thr		Q49A70|Q8N3Y6	Missense_Mutation	SNP	ENST00000370640.3	37	CCDS31261.1	.	.	.	.	.	.	.	.	.	.	G	4.796	0.148078	0.09134	.	.	ENSG00000203942	ENST00000370640	T	0.51325	0.71	4.95	3.1	0.35709	.	1.032320	0.07721	U	0.943711	T	0.30324	0.0761	N	0.19112	0.55	0.09310	N	0.999999	P	0.40476	0.718	B	0.33042	0.157	T	0.13335	-1.0513	10	0.51188	T	0.08	-0.2657	7.6131	0.28142	0.1971:0.0:0.8029:0.0	.	206	Q5T681	CJ062_HUMAN	T	206	ENSP00000359674:S206T	ENSP00000359674:S206T	S	+	2	0	C10orf62	99340261	0.005000	0.15991	0.000000	0.03702	0.045000	0.14185	1.509000	0.35780	0.499000	0.27970	0.643000	0.83706	AGT		0.537	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		C	99350271	G	C	99350271	3	2	194	1	0	0	0	0	1	0	0	0	1613	1029	36	4	619	4	C10orf62	10	99350271	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	944971	99350271	36184476	32	12018											
ADD3	120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	111877147	111877147	+	Silent	SNP	C	C	T	rs529121884		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr10:111877147C>T	ENST00000356080.4	+	5	901	c.534C>T	c.(532-534)ggC>ggT	p.G178G	ADD3_ENST00000277900.8_Silent_p.G178G|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Silent_p.G178G	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	178						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.G178G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TTCCCAGAGGCCTATCTTTTT	0.363																																																1	Substitution - coding silent(1)	kidney(1)											90	89	89					10																	111877147		2203	4300	6503	SO:0001819	synonymous_variant	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.534C>T	10.37:g.111877147C>T			D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	ENST00000356080.4	37	CCDS7561.1																																																																																				0.363	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		T	111877147	C	T	111877147	2	4	194	1	0	0	0	0	0	0	0	1	306	726	26	2		2	ADD3	10	111877147	Silent	SNP	C	TCGA-B0-5110-01A-01D-1421-08	12526876	111877147	23657600	33	12019											
OR5D14	219436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55563209	55563209	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr11:55563209C>A	ENST00000335605.1	+	1	178	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P60T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATTTCACACTCCTATGTACTT	0.383																																																1	Substitution - Missense(1)	kidney(1)											225	207	213					11																	55563209		2200	4296	6496	SO:0001583	missense	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.178C>A	11.37:g.55563209C>A	ENSP00000334456:p.Pro60Thr		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	15.12	2.738847	0.49045	.	.	ENSG00000186113	ENST00000335605	T	0.02032	4.49	5.08	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000396	T	0.17023	0.0409	H	0.97340	3.985	0.46131	D	0.998883	D	0.60160	0.987	P	0.56563	0.801	T	0.25222	-1.0138	10	0.72032	D	0.01	-22.368	13.3721	0.60719	0.1589:0.8411:0.0:0.0	.	60	Q8NGL3	OR5DE_HUMAN	T	60	ENSP00000334456:P60T	ENSP00000334456:P60T	P	+	1	0	OR5D14	55319785	1.000000	0.71417	0.926000	0.36857	0.165000	0.22458	5.468000	0.66743	1.095000	0.41419	0.643000	0.83706	CCT		0.383	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		A	55563209	C	A	55563209	3	1	194	1	0	0	0	0	1	0	0	0	11157	855	30	4	180	4	OR5D14	11	55563209	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08		55563209	79443307	34	12020											
OR5T2	219464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55999686	55999686	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr11:55999686G>T	ENST00000313264.4	-	1	1051	c.976C>A	c.(976-978)Ccc>Acc	p.P326T		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	326						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P326T(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TAGATGACGGGATTCAGCAAG	0.348																																																1	Substitution - Missense(1)	kidney(1)											134	120	124					11																	55999686		2201	4296	6497	SO:0001583	missense	219464			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.976C>A	11.37:g.55999686G>T	ENSP00000323688:p.Pro326Thr		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255200	0.59321	.	.	ENSG00000181718	ENST00000313264	T	0.63913	-0.07	5.07	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000822	T	0.75517	0.3860	M	0.72353	2.195	0.34829	D	0.739525	D	0.89917	1.0	D	0.97110	1.0	T	0.82078	-0.0635	10	0.87932	D	0	.	10.9679	0.47422	0.1557:0.0:0.8443:0.0	.	326	Q8NGG2	OR5T2_HUMAN	T	326	ENSP00000323688:P326T	ENSP00000323688:P326T	P	-	1	0	OR5T2	55756262	1.000000	0.71417	0.881000	0.34555	0.705000	0.40729	5.085000	0.64468	0.663000	0.31027	-0.357000	0.07601	CCC		0.348	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		T	55999686	G	T	55999686	3	4	194	1	0	0	0	0	1	0	0	0	11184	1174	41	4	102	4	OR5T2	11	55999686	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	436477	55999686	79006830	35	12021											
ZFPL1	7542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64854837	64854837	+	Silent	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr11:64854837C>A	ENST00000294258.3	+	7	830	c.678C>A	c.(676-678)ctC>ctA	p.L226L	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	226					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L226L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CACCAGGCCTCCATGGAGACT	0.597																																																1	Substitution - coding silent(1)	kidney(1)											95	98	97					11																	64854837		2201	4297	6498	SO:0001819	synonymous_variant	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"zinc-finger protein in MEN1 region"					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.678C>A	11.37:g.64854837C>A			A8K7E9|O14616|Q9UID0	Silent	SNP	ENST00000294258.3	37	CCDS8092.1																																																																																				0.597	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		A	64854837	C	A	64854837	2	1	194	1	0	0	0	0	0	0	0	1	17661	842	30	4		4	ZFPL1	11	64854837	Silent	SNP	C	TCGA-B0-5110-01A-01D-1421-08	8855151	64854837	70151679	36	12022											
OAF	220323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	120096481	120096481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr11:120096481G>T	ENST00000328965.4	+	2	856	c.343G>T	c.(343-345)Gag>Tag	p.E115*	OAF_ENST00000531220.1_5'UTR	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	115						extracellular vesicular exosome (GO:0070062)		p.E115*(1)		kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CATCCCCAGTGAGGCCATGGC	0.662																																																1	Substitution - Nonsense(1)	kidney(1)											117	114	115					11																	120096481		2203	4300	6503	SO:0001587	stop_gained	220323			BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.343G>T	11.37:g.120096481G>T	ENSP00000332613:p.Glu115*			Nonsense_Mutation	SNP	ENST00000328965.4	37	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	G	42	9.260924	0.99117	.	.	ENSG00000184232	ENST00000328965	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-36.2836	18.2063	0.89855	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000332613:E115X	E	+	1	0	OAF	119601691	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.121000	0.94375	2.285000	0.76669	0.561000	0.74099	GAG		0.662	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		T	120096481	G	T	120096481	4	4	194	1	0	0	0	0	0	1	0	0	10800	1291	45	4	349	4	OAF	11	120096481	Nonsense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	55241644	120096481	14910035	37	12023											
CCDC15	80071	hgsc.bcm.edu;ucsc.edu	37	11	124824706	124824706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr11:124824706delG	ENST00000344762.5	+	2	337	c.78delG	c.(76-78)aagfs	p.K26fs	CCDC15_ENST00000529051.1_Frame_Shift_Del_p.K26fs	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	26						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TGAAGAGCAAGGACGTGTTGG	0.527																																																0													130	133	132					11																	124824706		1975	4165	6140	SO:0001589	frameshift_variant	80071			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.78delG	11.37:g.124824706delG	ENSP00000341684:p.Lys26fs		Q9H8U7	Frame_Shift_Del	DEL	ENST00000344762.5	37	CCDS44756.1																																																																																				0.527	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		-	124824706	G	-	124824706	7	5	194	1	0	1	0	1	0	0	0	0	2786	991	35	0	80	0	CCDC15	11	124824706	Frame_Shift_Del	DEL	G	TCGA-B0-5110-01A-01D-1421-08	4728225	124824706	10181810	38	12024											
FGF6	2251	broad.mit.edu	37	12	4554409	4554409	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:4554409G>T	ENST00000228837.2	-	1	371	c.328C>A	c.(328-330)Cac>Aac	p.H110N		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	110					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.H110N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTCTCCTCGTGGGTCCCGCTG	0.637																																																1	Substitution - Missense(1)	kidney(1)											26	25	25					12																	4554409		2201	4300	6501	SO:0001583	missense	2251			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.328C>A	12.37:g.4554409G>T	ENSP00000228837:p.His110Asn		Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347987	0.82132	.	.	ENSG00000111241	ENST00000228837	T	0.81078	-1.45	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.92107	0.7498	M	0.91196	3.185	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	D	0.93028	0.6446	10	0.62326	D	0.03	.	19.6251	0.95674	0.0:0.0:1.0:0.0	.	110	P10767	FGF6_HUMAN	N	110	ENSP00000228837:H110N	ENSP00000228837:H110N	H	-	1	0	FGF6	4424670	1.000000	0.71417	0.993000	0.49108	0.894000	0.52154	9.869000	0.99810	2.636000	0.89361	0.655000	0.94253	CAC		0.637	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		T	4554409	G	T	4554409	3	4	194	1	0	0	0	0	1	0	0	0	5858	1348	47	4	310	4	FGF6	12	4554409	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08		4554409	129297486	39	12025											
ABCC9	10060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21968702	21968702	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:21968702G>T	ENST00000261201.4	-	32	4017	c.4018C>A	c.(4018-4020)Caa>Aaa	p.Q1340K	ABCC9_ENST00000261200.4_Missense_Mutation_p.Q1340K|ABCC9_ENST00000345162.2_Missense_Mutation_p.Q1304K	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1340	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.Q1340K(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATACCTTTTGTCCAGGTTTG	0.393																																																2	Substitution - Missense(2)	kidney(2)											148	138	141					12																	21968702		2203	4300	6503	SO:0001583	missense	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4018C>A	12.37:g.21968702G>T	ENSP00000261201:p.Gln1340Lys		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653489	0.88056	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.2	5.2	0.72013	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.88074	0.6339	N	0.20845	0.615	0.58432	D	0.999998	P;B	0.37824	0.609;0.335	B;B	0.34824	0.186;0.19	D	0.89468	0.3741	10	0.72032	D	0.01	-1.0651	17.0771	0.86589	0.0:0.0:1.0:0.0	.	1340;1340	O60706;O60706-2	ABCC9_HUMAN;.	K	1340;967;1340;1304	ENSP00000261200:Q1340K;ENSP00000440521:Q967K;ENSP00000261201:Q1340K;ENSP00000261202:Q1304K	ENSP00000261200:Q1340K	Q	-	1	0	ABCC9	21859969	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.032000	0.93736	2.689000	0.91719	0.650000	0.86243	CAA		0.393	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		T	21968702	G	T	21968702	3	4	194	1	0	0	0	0	1	0	0	0	59	1386	48	4	801	4	ABCC9	12	21968702	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	17414293	21968702	111883193	40	12026											
VEZT	55591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	95676229	95676229	+	Silent	SNP	A	A	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:95676229A>G	ENST00000436874.1	+	8	1242	c.1137A>G	c.(1135-1137)caA>caG	p.Q379Q	VEZT_ENST00000261219.6_Silent_p.Q331Q|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	379					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.Q379Q(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ATGTGACTCAAGGTCTACCTC	0.473																																																2	Substitution - coding silent(2)	kidney(2)											183	173	176					12																	95676229		1979	4178	6157	SO:0001819	synonymous_variant	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1137A>G	12.37:g.95676229A>G			Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Silent	SNP	ENST00000436874.1	37	CCDS44954.1																																																																																				0.473	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		G	95676229	A	G	95676229	2	3	194	1	0	0	0	0	0	0	0	1	17161	69	3	3		3	VEZT	12	95676229	Silent	SNP	A	TCGA-B0-5110-01A-01D-1421-08	73707527	95676229	38175666	41	12027											
OAS3	4940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113379477	113379477	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:113379477C>T	ENST00000228928.7	+	2	459	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	OAS3_ENST00000551007.1_Missense_Mutation_p.R94C|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000548514.1_Missense_Mutation_p.R94C|OAS3_ENST00000546638.1_Intron	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	94	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.R94C(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GAGGGCCCGCCGTGCAGAGAT	0.602																																																1	Substitution - Missense(1)	kidney(1)											71	76	75					12																	113379477		1967	4157	6124	SO:0001583	missense	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.280C>T	12.37:g.113379477C>T	ENSP00000228928:p.Arg94Cys		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587372	0.46110	.	.	ENSG00000111331	ENST00000228928;ENST00000551007;ENST00000548514;ENST00000323881	T;T;T	0.27557	1.66;1.66;1.66	3.69	0.649	0.17806	2-5-oligoadenylate synthetase, N-terminal (1);	.	.	.	.	T	0.32615	0.0835	M	0.82630	2.6	0.09310	N	1	B;P;B	0.36944	0.029;0.574;0.398	B;B;B	0.37387	0.003;0.134;0.248	T	0.38200	-0.9672	9	0.87932	D	0	.	2.1811	0.03875	0.201:0.4889:0.1955:0.1146	.	94;94;94	Q9Y6K5;F8VS35;F8VWK9	OAS3_HUMAN;.;.	C	94	ENSP00000228928:R94C;ENSP00000449299:R94C;ENSP00000448388:R94C	ENSP00000228928:R94C	R	+	1	0	OAS3	111863860	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.104000	0.10923	0.015000	0.14971	0.561000	0.74099	CGT		0.602	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			T	113379477	C	T	113379477	3	4	194	1	0	0	0	0	1	0	0	0	10803	652	23	1	286	1	OAS3	12	113379477	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	17703248	113379477	20472418	42	12028											
ANAPC5	51433	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121758187	121758187	+	Splice_Site	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:121758187C>A	ENST00000261819.3	-	12	1637		c.e12+1		ANAPC5_ENST00000541887.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site|ANAPC5_ENST00000535482.1_Splice_Site|ANAPC5_ENST00000544314.1_Splice_Site|ANAPC5_ENST00000344395.4_Splice_Site	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.?(1)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGCAGATTACCTGGGCGTGC	0.358																																																1	Unknown(1)	kidney(1)											81	79	79					12																	121758187		2203	4300	6503	SO:0001630	splice_region_variant	51433			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1515+1G>T	12.37:g.121758187C>A			E9PFB2|Q8N4H7|Q9BQD4	Splice_Site	SNP	ENST00000261819.3	37	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299787	0.40694	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9488	0.92632	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANAPC5	120242570	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	5.878000	0.69682	2.783000	0.95769	0.655000	0.94253	.		0.358	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1		Intron	A	121758187	C	A	121758187	5	1	194	1	0	0	0	0	0	0	1	0	605	521	18	4	775	4	ANAPC5	12	121758187	Splice_Site	SNP	C	TCGA-B0-5110-01A-01D-1421-08	8378710	121758187	12093708	43	12029											
HIP1R	9026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123343990	123343990	+	Silent	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:123343990C>T	ENST00000253083.4	+	23	2438	c.2313C>T	c.(2311-2313)agC>agT	p.S771S		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	771	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)	p.S771S(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AACCCAAGAGCCTAGATGTGC	0.632																																																1	Substitution - coding silent(1)	kidney(1)											49	56	54					12																	123343990		2203	4300	6503	SO:0001819	synonymous_variant	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2313C>T	12.37:g.123343990C>T			A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	CCDS31922.1																																																																																				0.632	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		T	123343990	C	T	123343990	2	4	194	1	0	0	0	0	0	0	0	1	7117	738	26	2		2	HIP1R	12	123343990	Silent	SNP	C	TCGA-B0-5110-01A-01D-1421-08	1585803	123343990	10507905	44	12030											
SLC7A1	6541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	30098300	30098300	+	Silent	SNP	G	G	A	rs138795948	byFrequency	TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr13:30098300G>A	ENST00000380752.5	-	6	1181	c.795C>T	c.(793-795)gcC>gcT	p.A265A		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	265					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.A265A(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCCCACGAAGGCATAGAAGC	0.572													G|||	4	0.000798722	0.0	0.0014	5008	,	,		14470	0.0		0.003	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G		6,4400	12.9+/-30.5	0,6,2197	60	60	60		795	2	1	13	dbSNP_134	60	25,8575	17.9+/-57.8	0,25,4275	no	coding-synonymous	SLC7A1	NM_003045.4		0,31,6472	AA,AG,GG		0.2907,0.1362,0.2384		265/630	30098300	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.795C>T	13.37:g.30098300G>A			Q5JR50	Silent	SNP	ENST00000380752.5	37	CCDS9333.1																																																																																				0.572	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		A	30098300	G	A	30098300	2	1	194	1	0	0	0	0	0	0	0	1	14698	987	35	2		2	SLC7A1	13	30098300	Silent	SNP	G	TCGA-B0-5110-01A-01D-1421-08		30098300	85071578	45	12031											
C13orf23	80209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	39587314	39587314	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr13:39587314G>A	ENST00000352251.3	-	11	2908	c.2075C>T	c.(2074-2076)cCa>cTa	p.P692L	PROSER1_ENST00000350125.3_Missense_Mutation_p.P670L|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	692	Ser-rich.							p.P692L(1)									AGTGAATACTGGTGCAATGGG	0.438																																																1	Substitution - Missense(1)	kidney(1)											129	129	129					13																	39587314		2203	4300	6503	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2075C>T	13.37:g.39587314G>A	ENSP00000332034:p.Pro692Leu		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436928	0.43224	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.34667	1.36;1.35	5.27	4.42	0.53409	.	.	.	.	.	T	0.47930	0.1472	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.38542	-0.9656	8	.	.	.	-13.7911	14.7268	0.69351	0.0:0.0:0.8541:0.1459	.	670;692	A6NJ97;Q86XN7	.;PRSR1_HUMAN	L	692;670	ENSP00000332034:P692L;ENSP00000339123:P670L	.	P	-	2	0	PROSER1	38485314	0.998000	0.40836	0.045000	0.18777	0.188000	0.23474	4.754000	0.62191	1.340000	0.45581	-0.310000	0.09108	CCA		0.438	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		A	39587314	G	A	39587314	3	1	194	1	0	0	0	0	1	0	0	0	1723	1348	47	2	771	2	C13orf23	13	39587314	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	9489014	39587314	75582564	46	12032											
KBTBD7	84078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41767262	41767262	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr13:41767262G>T	ENST00000379483.3	-	1	1440	c.1132C>A	c.(1132-1134)Cac>Aac	p.H378N		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	378								p.H378N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTCTTAGTGTGAGCAAAGCTG	0.502																																																1	Substitution - Missense(1)	kidney(1)											89	78	82					13																	41767262		2203	4300	6503	SO:0001583	missense	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1132C>A	13.37:g.41767262G>T	ENSP00000368797:p.His378Asn		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.161465	0.01673	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.74737	-0.87	4.9	4.06	0.47325	Kelch-type beta propeller (1);	0.282228	0.33199	U	0.005162	T	0.61652	0.2364	L	0.33485	1.01	0.32038	N	0.59858	B	0.21520	0.057	B	0.16722	0.016	T	0.61860	-0.6976	10	0.28530	T	0.3	.	10.9899	0.47543	0.092:0.0:0.908:0.0	.	378	Q8WVZ9	KBTB7_HUMAN	N	378;280	ENSP00000368797:H378N	ENSP00000368797:H378N	H	-	1	0	KBTBD7	40665262	1.000000	0.71417	0.995000	0.50966	0.066000	0.16364	5.042000	0.64202	1.051000	0.40369	-0.262000	0.10625	CAC		0.502	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		T	41767262	G	T	41767262	3	4	194	1	0	0	0	0	1	0	0	0	8000	1290	45	4	926	4	KBTBD7	13	41767262	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	2179948	41767262	73402616	47	12033											
MYO16	23026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	109672228	109672228	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr13:109672228C>T	ENST00000357550.2	+	22	2740	c.2699C>T	c.(2698-2700)aCa>aTa	p.T900I	MYO16_ENST00000457511.2_Missense_Mutation_p.T412I|MYO16_ENST00000251041.5_Missense_Mutation_p.T900I|MYO16_ENST00000356711.2_Missense_Mutation_p.T900I	NM_001198950.1	NP_001185879.1			myosin XVI									p.T900I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACCACGGTACAGCCTTCACC	0.463																																																1	Substitution - Missense(1)	kidney(1)											106	93	98					13																	109672228		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2699C>T	13.37:g.109672228C>T	ENSP00000350160:p.Thr900Ile			Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	0.661	-0.805785	0.02819	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.98	3.24	0.37175	Myosin head, motor domain (2);	0.934610	0.08729	U	0.902323	D	0.84088	0.5395	L	0.58302	1.8	0.09310	N	1	B;B;B	0.31383	0.321;0.321;0.14	B;B;B	0.29942	0.071;0.109;0.061	T	0.71451	-0.4589	9	.	.	.	.	9.8618	0.41118	0.0:0.835:0.0:0.165	.	412;900;900	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	I	900;900;900;900;688;412	ENSP00000349145:T900I;ENSP00000350160:T900I;ENSP00000251041:T900I;ENSP00000401633:T412I	.	T	+	2	0	MYO16	108470229	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.391000	0.34475	1.097000	0.41459	0.650000	0.86243	ACA		0.463	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		T	109672228	C	T	109672228	3	4	194	1	0	0	0	0	1	0	0	0	10066	478	17	2	2785	2	MYO16	13	109672228	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	67904966	109672228	5497650	48	12034											
EIF5	1983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	103802419	103802419	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr14:103802419T>C	ENST00000216554.3	+	4	795	c.119T>C	c.(118-120)gTt>gCt	p.V40A	EIF5_ENST00000560200.1_Intron|EIF5_ENST00000392715.2_Missense_Mutation_p.V40A|EIF5_ENST00000558506.1_Missense_Mutation_p.V40A|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	40					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.V40A(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			GTCAACATGGTTGACGTTGCA	0.418																																																1	Substitution - Missense(1)	kidney(1)											70	63	65					14																	103802419		2203	4300	6503	SO:0001583	missense	1983			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.119T>C	14.37:g.103802419T>C	ENSP00000216554:p.Val40Ala		Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.764435	0.31228	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.39997	1.05;1.05	6.0	6.0	0.97389	Translation initiation factor IF2/IF5, N-terminal (2);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.13602	-1.0503	10	0.11182	T	0.66	-2.1394	16.56	0.84537	0.0:0.0:0.0:1.0	.	40	P55010	IF5_HUMAN	A	40	ENSP00000216554:V40A;ENSP00000376477:V40A	ENSP00000216554:V40A	V	+	2	0	EIF5	102872172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.831000	0.86748	2.313000	0.78055	0.454000	0.30748	GTT		0.418	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		C	103802419	T	C	103802419	3	2	194	1	0	0	0	0	1	0	0	0	5042	1725	60	3	125	3	EIF5	14	103802419	Missense_Mutation	SNP	T	TCGA-B0-5110-01A-01D-1421-08		103802419	3547121	49	12035											
TYRO3	7301	hgsc.bcm.edu	37	15	41865311	41865311	+	Splice_Site	SNP	T	T	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr15:41865311T>C	ENST00000263798.3	+	16	2209		c.e16+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAATTGCATGTACGAATTCTG	0.582																																																0													53	47	49					15																	41865311		2203	4300	6503	SO:0001630	splice_region_variant	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1985+2T>C	15.37:g.41865311T>C			O14953|Q86VR3	Splice_Site	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262227	0.80358	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1249	0.72475	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39652603	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.040000	0.89188	1.998000	0.58463	0.529000	0.55759	.		0.582	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		Intron	C	41865311	T	C	41865311	5	2	194	1	0	0	0	0	0	0	1	0	16819	1652	57	3	2049	3	TYRO3	15	41865311	Splice_Site	SNP	T	TCGA-B0-5110-01A-01D-1421-08		41865311	60666081	50	12036											
AGBL1	123624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	86838616	86838616	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr15:86838616G>C	ENST00000441037.2	+	16	2308	c.2213G>C	c.(2212-2214)aGt>aCt	p.S738T	AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000421325.2_Missense_Mutation_p.S738T|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.S469T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	738					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.S738T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAGTCCAACAGTGATGAGCAT	0.493																																																1	Substitution - Missense(1)	kidney(1)											116	114	115					15																	86838616		1982	4167	6149	SO:0001583	missense	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2213G>C	15.37:g.86838616G>C	ENSP00000413001:p.Ser738Thr		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247535	0.22880	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10288	2.89;2.89	5.6	5.6	0.85130	Peptidase M14, carboxypeptidase A (1);	0.367255	0.31577	N	0.007419	T	0.14227	0.0344	N	0.25890	0.77	0.09310	N	1	P;B;D	0.54964	0.696;0.356;0.969	B;B;P	0.58660	0.268;0.236;0.843	T	0.22034	-1.0228	10	0.14656	T	0.56	-19.9399	10.8515	0.46773	0.0858:0.0:0.9142:0.0	.	437;469;738	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	T	767;738;469	ENSP00000397173:S738T;ENSP00000373949:S469T	ENSP00000373949:S469T	S	+	2	0	AGBL1	84639620	0.085000	0.21516	0.043000	0.18650	0.646000	0.38490	2.549000	0.45803	2.789000	0.95967	0.650000	0.86243	AGT		0.493	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		C	86838616	G	C	86838616	3	2	194	1	0	0	0	0	1	0	0	0	375	1029	36	4	2271	4	AGBL1	15	86838616	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	44973305	86838616	15692776	51	12037											
ERI2	6296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20802204	20802204	+	Intron	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr16:20802204C>A	ENST00000289416.5	+	10	1801				ACSM3_ENST00000567387.1_Intron|ERI2_ENST00000300005.3_Silent_p.G261G|ACSM3_ENST00000450120.2_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3						cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.G261G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CATGCTGGTCCCCTGAGGCCA	0.448																																																1	Substitution - coding silent(1)	kidney(1)											102	111	108					16																	20802204		2201	4300	6501	SO:0001627	intron_variant	112479			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1326+194C>A	16.37:g.20802204C>A			O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	37	CCDS10589.1																																																																																				0.448	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		A	20802204	C	A	20802204	1	1	194	0	1	0	0	0	0	0	0	0	5230	610	22	4		4	ERI2	16	20802204	Intron	SNP	C	TCGA-B0-5110-01A-01D-1421-08		20802204	69552549	52	12038											
SBK1	388228	broad.mit.edu	37	16	28331871	28331871	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr16:28331871C>T	ENST00000341901.4	+	4	1693	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R302C(1)		kidney(1)|lung(3)|ovary(1)	5						GGAGCCCGAGCGCCGCGGCCC	0.756																																																1	Substitution - Missense(1)	kidney(1)											4	5	5					16																	28331871		1553	3318	4871	SO:0001583	missense	388228				CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"SH3-binding domain kinase 1"				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.904C>T	16.37:g.28331871C>T	ENSP00000343248:p.Arg302Cys			Missense_Mutation	SNP	ENST00000341901.4	37	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700113	0.48307	.	.	ENSG00000188322	ENST00000341901	T	0.67171	-0.25	3.98	2.93	0.34026	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.134114	0.46442	D	0.000295	T	0.71169	0.3308	L	0.55103	1.725	0.49130	D	0.999752	D	0.76494	0.999	P	0.60609	0.877	T	0.73000	-0.4120	10	0.87932	D	0	-18.6724	7.8976	0.29715	0.4432:0.5568:0.0:0.0	.	302	Q52WX2	SBK1_HUMAN	C	302	ENSP00000343248:R302C	ENSP00000343248:R302C	R	+	1	0	SBK1	28239372	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.045000	0.41250	1.762000	0.52044	0.456000	0.33151	CGC		0.756	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		T	28331871	C	T	28331871	3	4	194	1	0	0	0	0	1	0	0	0	13866	768	27	1	914	1	SBK1	16	28331871	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	7529667	28331871	62022882	53	12039											
SLC5A2	6524	broad.mit.edu	37	16	31496212	31496212	+	Missense_Mutation	SNP	A	A	G	rs374586198		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr16:31496212A>G	ENST00000330498.3	+	3	290	c.271A>G	c.(271-273)Agt>Ggt	p.S91G	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	91					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.S91G(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TGGCGCTGCAAGTGGCTTGGC	0.597																																																1	Substitution - Missense(1)	kidney(1)						A	GLY/SER	1,4393	2.1+/-5.4	0,1,2196	45	52	49		271	5.1	1	16		49	0,8600		0,0,4300	no	missense	SLC5A2	NM_003041.3	56	0,1,6496	GG,GA,AA		0.0,0.0228,0.0077	benign	91/673	31496212	1,12993	2197	4300	6497	SO:0001583	missense	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.271A>G	16.37:g.31496212A>G	ENSP00000327943:p.Ser91Gly		A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654673	0.29425	2.28E-4	0.0	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.91011	-2.77;-2.77	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	L	0.39020	1.185	0.49687	D	0.999812	B	0.10296	0.003	B	0.10450	0.005	T	0.79692	-0.1697	10	0.19590	T	0.45	.	12.9377	0.58325	1.0:0.0:0.0:0.0	.	91	P31639	SC5A2_HUMAN	G	91	ENSP00000327943:S91G;ENSP00000410601:S91G	ENSP00000327943:S91G	S	+	1	0	SLC5A2	31403713	0.000000	0.05858	0.973000	0.42090	0.994000	0.84299	0.456000	0.21859	2.160000	0.67779	0.533000	0.62120	AGT		0.597	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			G	31496212	A	G	31496212	3	3	194	1	0	0	0	0	1	0	0	0	14671	72	3	3	281	3	SLC5A2	16	31496212	Missense_Mutation	SNP	A	TCGA-B0-5110-01A-01D-1421-08	3164341	31496212	58858541	54	12040											
CHD9	80205	hgsc.bcm.edu;ucsc.edu	37	16	53296952	53296952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr16:53296952delC	ENST00000398510.3	+	19	4350	c.4263delC	c.(4261-4263)aacfs	p.N1421fs	CHD9_ENST00000566029.1_Frame_Shift_Del_p.N1421fs|CHD9_ENST00000447540.1_Frame_Shift_Del_p.N1421fs|CHD9_ENST00000564845.1_Frame_Shift_Del_p.N1421fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1421					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATGATCCCAACTTCTGGCAAA	0.363																																																0													109	101	104					16																	53296952		1835	4091	5926	SO:0001589	frameshift_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4263delC	16.37:g.53296952delC	ENSP00000381522:p.Asn1421fs		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Del	DEL	ENST00000398510.3	37																																																																																					0.363	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		-	53296952	C	-	53296952	7	5	194	1	0	1	0	1	0	0	0	0	3334	564	20	0	4337	0	CHD9	16	53296952	Frame_Shift_Del	DEL	C	TCGA-B0-5110-01A-01D-1421-08	21800740	53296952	37057801	55	12041											
AMAC1L3	643664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7385621	7385621	+	Silent	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:7385621C>T	ENST00000412468.2	+	2	433	c.318C>T	c.(316-318)ttC>ttT	p.F106F	POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|ZBTB4_ENST00000380599.4_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	106	EamA 1.					integral component of membrane (GO:0016021)		p.F106F(1)									GGGCCTACTTCTATGCCCTGC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											185	189	188					17																	7385621		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.318C>T	17.37:g.7385621C>T				Silent	SNP	ENST00000412468.2	37	CCDS45603.1																																																																																				0.592	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		T	7385621	C	T	7385621	2	4	194	1	0	0	0	0	0	0	0	1	561	912	32	2		2	AMAC1L3	17	7385621	Silent	SNP	C	TCGA-B0-5110-01A-01D-1421-08		7385621	73809589	56	12042											
C17orf68	80169	hgsc.bcm.edu	37	17	8139457	8139458	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:8139457_8139458insT	ENST00000315684.8	-	6	1002_1003	c.995_996insA	c.(994-996)aagfs	p.K332fs	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	332					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGGGGAGTGGCTTGGGGTCAGC	0.55																																																0																																										SO:0001589	frameshift_variant	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.996dupA	17.37:g.8139459_8139459dupT	ENSP00000313759:p.Lys332fs		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Frame_Shift_Ins	INS	ENST00000315684.8	37	CCDS42259.1																																																																																				0.55	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		T	8139458	-	T	8139457	7	5	194	1	0	1	1	0	0	0	0	0	1878	796	28	0	2729	0	C17orf68	17	8139457	Frame_Shift_Ins	INS	-	TCGA-B0-5110-01A-01D-1421-08	753836	8139457	73055753	57	12043											
MYH2	4620	hgsc.bcm.edu;ucsc.edu	37	17	10427079	10427079	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:10427079delA	ENST00000245503.5	-	36	5682	c.5298delT	c.(5296-5298)actfs	p.T1766fs	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Frame_Shift_Del_p.T1766fs	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1766					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						CACTCACATCAGTGATGGCCT	0.443																																																0													188	167	174					17																	10427079		2203	4300	6503	SO:0001589	frameshift_variant	4620				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.5298delT	17.37:g.10427079delA	ENSP00000245503:p.Thr1766fs		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Frame_Shift_Del	DEL	ENST00000245503.5	37	CCDS11156.1																																																																																				0.443	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		-	10427079	A	-	10427079	7	5	194	1	0	1	0	1	0	0	0	0	10037	175	7	0	547	0	MYH2	17	10427079	Frame_Shift_Del	DEL	A	TCGA-B0-5110-01A-01D-1421-08	2287622	10427079	70768131	58	12044											
CACNB1	782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37333729	37333729	+	Silent	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:37333729C>T	ENST00000394303.3	-	13	1413	c.1206G>A	c.(1204-1206)gcG>gcA	p.A402A	CACNB1_ENST00000344140.5_Silent_p.A447A|RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Silent_p.A402A	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	402					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.A402A(1)|p.A447A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAAGTACTCCGCCAGATGCT	0.607																																					Esophageal Squamous(5;100 366 38393 41452 45827)											2	Substitution - coding silent(2)	kidney(2)											68	59	62					17																	37333729		2203	4300	6503	SO:0001819	synonymous_variant	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1206G>A	17.37:g.37333729C>T			A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	CCDS42311.1																																																																																				0.607	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			T	37333729	C	T	37333729	2	4	194	1	0	0	0	0	0	0	0	1	2554	639	23	1		1	CACNB1	17	37333729	Silent	SNP	C	TCGA-B0-5110-01A-01D-1421-08	26906650	37333729	43861481	59	12045											
ERBB2	2064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37866350	37866350	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:37866350G>A	ENST00000269571.5	+	6	814	c.655G>A	c.(655-657)Gtc>Atc	p.V219I	ERBB2_ENST00000406381.2_Missense_Mutation_p.V189I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V189I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V189I|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Missense_Mutation_p.V189I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V219I|ERBB2_ENST00000578199.1_Missense_Mutation_p.V189I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V204I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	219					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V219I(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGCGCACTGTCTGTGCCGG	0.657		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	1	Substitution - Missense(1)	kidney(1)											59	61	60					17																	37866350		2203	4299	6502	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.655G>A	17.37:g.37866350G>A	ENSP00000269571:p.Val219Ile		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602141	0.46423	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.62	-4.49	0.03504	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.24774	0.0601	N	0.01529	-0.815	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.0;0.0;0.0;0.002	T	0.39272	-0.9622	9	0.02654	T	1	.	9.3559	0.38166	0.7355:0.1101:0.1544:0.0	.	189;204;219;219	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	I	189;204;219;189;189	ENSP00000385185:V189I;ENSP00000446466:V204I;ENSP00000269571:V219I;ENSP00000443562:V189I;ENSP00000446382:V189I	ENSP00000269571:V219I	V	+	1	0	ERBB2	35119876	0.002000	0.14202	0.000000	0.03702	0.406000	0.30931	0.189000	0.17037	-0.734000	0.04843	0.467000	0.42956	GTC		0.657	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			A	37866350	G	A	37866350	3	1	194	1	0	0	0	0	1	0	0	0	5208	1377	48	2	677	2	ERBB2	17	37866350	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	532621	37866350	43328860	60	12046											
HOXB4	3214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46654154	46654154	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:46654154C>T	ENST00000332503.5	-	2	2477	c.686G>A	c.(685-687)cGc>cAc	p.R229H	HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000490677.1_5'Flank|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000311626.4_5'Flank|HOXB3_ENST00000485909.2_5'Flank	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	229					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R229H(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						ACCACCCGAGCGGATCTTGGT	0.677																																																1	Substitution - Missense(1)	kidney(1)											49	52	51					17																	46654154		2203	4300	6503	SO:0001583	missense	3214				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.686G>A	17.37:g.46654154C>T	ENSP00000328928:p.Arg229His		Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431085	0.83776	.	.	ENSG00000182742	ENST00000332503	D	0.91843	-2.92	5.78	5.78	0.91487	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94215	0.8143	L	0.36672	1.1	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.94509	0.7717	10	0.66056	D	0.02	.	18.7829	0.91941	0.0:1.0:0.0:0.0	.	229	P17483	HXB4_HUMAN	H	229	ENSP00000328928:R229H	ENSP00000328928:R229H	R	-	2	0	HOXB4	44009153	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.779000	0.85648	2.724000	0.93272	0.555000	0.69702	CGC		0.677	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			T	46654154	C	T	46654154	3	4	194	1	0	0	0	0	1	0	0	0	7305	768	27	1	73	1	HOXB4	17	46654154	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	8787804	46654154	34541056	61	12047											
CCBE1	147372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	57136800	57136800	+	Missense_Mutation	SNP	C	C	T	rs121908251		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr18:57136800C>T	ENST00000439986.4	-	4	342	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	102			C -> S (in HKLLS1; dbSNP:rs121908251). {ECO:0000269|PubMed:19935664}.		lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.C102Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GTTGTCCGTGCACTGCTGTTC	0.547																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)											1	Substitution - Missense(1)	kidney(1)											161	151	154					18																	57136800		2203	4300	6503	SO:0001583	missense	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.305G>A	18.37:g.57136800C>T	ENSP00000404464:p.Cys102Tyr		Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776523	0.90195	.	.	ENSG00000183287	ENST00000439986	D	0.97752	-4.52	5.7	5.7	0.88788	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99429	1.0935	10	0.87932	D	0	-18.8344	18.6098	0.91281	0.0:1.0:0.0:0.0	.	102	Q6UXH8	CCBE1_HUMAN	Y	102	ENSP00000404464:C102Y	ENSP00000404464:C102Y	C	-	2	0	CCBE1	55287780	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.456000	0.80751	2.683000	0.91414	0.650000	0.86243	TGC		0.547	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		T	57136800	C	T	57136800	3	4	194	1	0	0	0	0	1	0	0	0	2733	710	25	2	947	2	CCBE1	18	57136800	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08		57136800	20940448	62	12048											
QTRT1	81890	hgsc.bcm.edu;ucsc.edu	37	19	10818039	10818039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr19:10818039delG	ENST00000250237.5	+	4	523	c.513delG	c.(511-513)gtgfs	p.V171fs	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	171					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GGCCACGTGTGGAGGAGGCCA	0.577																																																0													358	269	299					19																	10818039		2203	4300	6503	SO:0001589	frameshift_variant	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.513delG	19.37:g.10818039delG	ENSP00000250237:p.Val171fs		B4DFM7|Q96BQ4|Q9BXQ9	Frame_Shift_Del	DEL	ENST00000250237.5	37	CCDS12248.1																																																																																				0.577	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		-	10818039	G	-	10818039	7	5	194	1	0	1	0	1	0	0	0	0	12891	1335	47	0	527	0	QTRT1	19	10818039	Frame_Shift_Del	DEL	G	TCGA-B0-5110-01A-01D-1421-08		10818039	48310944	63	12049											
OR7A10	390892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14952067	14952067	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr19:14952067C>G	ENST00000248058.1	-	1	622	c.623G>C	c.(622-624)gGt>gCt	p.G208A		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G208A(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GAGGGGACCACCGCCCAGCAG	0.458																																																1	Substitution - Missense(1)	kidney(1)											60	57	58					19																	14952067		2203	4300	6503	SO:0001583	missense	390892				CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.623G>C	19.37:g.14952067C>G	ENSP00000248058:p.Gly208Ala		Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	c	3.359	-0.130920	0.06753	.	.	ENSG00000127515	ENST00000248058	T	0.36520	1.25	2.75	-1.59	0.08453	GPCR, rhodopsin-like superfamily (1);	1.827740	0.04072	U	0.308228	T	0.24198	0.0586	N	0.17901	0.54	0.09310	N	1	B	0.18610	0.029	B	0.25291	0.059	T	0.25082	-1.0142	10	0.16420	T	0.52	.	9.1871	0.37176	0.7055:0.2945:0.0:0.0	.	208	O76100	OR7AA_HUMAN	A	208	ENSP00000248058:G208A	ENSP00000248058:G208A	G	-	2	0	OR7A10	14813067	0.000000	0.05858	0.002000	0.10522	0.288000	0.27193	-0.647000	0.05397	0.048000	0.15891	0.134000	0.15878	GGT		0.458	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		G	14952067	C	G	14952067	3	3	194	1	0	0	0	0	1	0	0	0	11216	507	18	4	310	4	OR7A10	19	14952067	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	4134028	14952067	44176916	64	12050											
ILVBL	10994	broad.mit.edu;hgsc.bcm.edu	37	19	15227242	15227242	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr19:15227242G>T	ENST00000263383.3	-	11	1417	c.1278C>A	c.(1276-1278)gaC>gaA	p.D426E	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Missense_Mutation_p.D319E	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	426						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.D426E(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCTTCTGCCGGTCGGCTTCCC	0.652																																																1	Substitution - Missense(1)	kidney(1)											64	66	65					19																	15227242		2203	4300	6503	SO:0001583	missense	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1278C>A	19.37:g.15227242G>T	ENSP00000263383:p.Asp426Glu		O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	9.104	1.004825	0.19199	.	.	ENSG00000105135	ENST00000263383	T	0.40756	1.02	5.41	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	L	0.55481	1.735	0.47905	D	0.999548	B	0.32939	0.391	B	0.31686	0.134	T	0.12041	-1.0563	10	0.48119	T	0.1	-38.8082	7.6203	0.28181	0.2606:0.0:0.7393:0.0	.	426	A1L0T0	ILVBL_HUMAN	E	426	ENSP00000263383:D426E	ENSP00000263383:D426E	D	-	3	2	ILVBL	15088242	0.795000	0.28851	0.903000	0.35520	0.260000	0.26232	1.173000	0.31920	0.670000	0.31165	-0.254000	0.11334	GAC		0.652	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		T	15227242	G	T	15227242	3	4	194	1	0	0	0	0	1	0	0	0	7717	1252	44	4	644	4	ILVBL	19	15227242	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01D-1421-08	275175	15227242	43901741	65	12051											
ZSCAN5A	79149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56732944	56732944	+	Nonstop_Mutation	SNP	T	T	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr19:56732944T>C	ENST00000587340.1	-	7	2186	c.1491A>G	c.(1489-1491)tgA>tgG	p.*497W	ZSCAN5A_ENST00000592355.1_Nonstop_Mutation_p.*496W|ZSCAN5A_ENST00000391713.1_Nonstop_Mutation_p.*497W|ZSCAN5A_ENST00000587492.1_Nonstop_Mutation_p.*351W|ZSCAN5A_ENST00000254165.3_Nonstop_Mutation_p.*380W			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	0					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.*497W(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GATTATGCAATCACTGAGAAG	0.428																																																1	Nonstop extension(1)	kidney(1)											102	87	92					19																	56732944		2203	4300	6503	SO:0001578	stop_lost	79149			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1491A>G	19.37:g.56732944T>C	ENSP00000467631:p.*497Cysext*14		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	1.469	-0.560366	0.03939	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	.	.	.	1.25	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6689	0.12680	0.0:0.0:0.0:1.0	.	.	.	.	W	497;380	.	.	X	-	3	0	ZSCAN5A	61424756	0.002000	0.14202	0.011000	0.14972	0.011000	0.07611	0.086000	0.14935	0.820000	0.34516	0.402000	0.26972	TGA		0.428	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		C	56732944	T	C	56732944	4	2	194	1	0	0	0	0	0	0	0	0	18243	1448	50	3	3	3	ZSCAN5A	19	56732944	Nonstop_Mutation	SNP	T	TCGA-B0-5110-01A-01D-1421-08	41505702	56732944	2396039	66	12052											
SLC7A4	6545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21385823	21385823	+	Silent	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr22:21385823C>T	ENST00000382932.2	-	2	346	c.279G>A	c.(277-279)ggG>ggA	p.G93G	AC002472.11_ENST00000450652.1_RNA|MIR649_ENST00000384843.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.G93G	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	93					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.G93G(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCACACGTGCCCCAAATTCTG	0.617																																																1	Substitution - coding silent(1)	kidney(1)											64	48	53					22																	21385823		2203	4300	6503	SO:0001819	synonymous_variant	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.279G>A	22.37:g.21385823C>T			Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	ENST00000382932.2	37	CCDS33608.1																																																																																				0.617	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		T	21385823	C	T	21385823	2	4	194	1	0	0	0	0	0	0	0	1	14705	610	22	2		2	SLC7A4	22	21385823	Silent	SNP	C	TCGA-B0-5110-01A-01D-1421-08		21385823	29918743	67	12053											
MXRA5	25878	hgsc.bcm.edu;ucsc.edu	37	X	3240485	3240494	+	Frame_Shift_Del	DEL	TGGAGTGTGT	TGGAGTGTGT	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	TGGAGTGTGT	TGGAGTGTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:3240485_3240494delTGGAGTGTGT	ENST00000217939.6	-	5	3386_3395	c.3232_3241delACACACTCCA	c.(3232-3243)acacactccagafs	p.THSR1078fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1078						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAGAACTTCTGGAGTGTGTGGGGTCTCCC	0.462																																																0																																										SO:0001589	frameshift_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3232_3241delACACACTCCA	X.37:g.3240485_3240494delTGGAGTGTGT	ENSP00000217939:p.Thr1078fs		Q6P1M7|Q9Y3Y8	Frame_Shift_Del	DEL	ENST00000217939.6	37	CCDS14124.1																																																																																				0.462	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		-	3240494	TGGAGTGTGT	-	3240485	7	5	194	1	0	1	0	1	0	0	0	0	10005	1588	55	0	5257	0	MXRA5	23	3240485	Frame_Shift_Del	DEL	TGGAGTGTGT	TCGA-B0-5110-01A-01D-1421-08		3240485	152030075	68	12054											
BEND2	139105	broad.mit.edu;ucsc.edu	37	X	18219956	18219956	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:18219956C>G	ENST00000380033.4	-	6	1144	c.1012G>C	c.(1012-1014)Gtc>Ctc	p.V338L	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	338								p.V338L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGGATGAAGACAGATAAAGAG	0.453																																																1	Substitution - Missense(1)	kidney(1)											217	181	193					X																	18219956		2203	4300	6503	SO:0001583	missense	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1012G>C	X.37:g.18219956C>G	ENSP00000369372:p.Val338Leu		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	-	12.61	1.988705	0.35131	.	.	ENSG00000177324	ENST00000380033	T	0.27720	1.65	3.16	-4.56	0.03431	.	.	.	.	.	T	0.16685	0.0401	L	0.46157	1.445	0.09310	N	1	B	0.21225	0.053	B	0.12156	0.007	T	0.38779	-0.9645	9	0.11182	T	0.66	.	1.0269	0.01529	0.1526:0.2014:0.2032:0.4428	.	338	Q8NDZ0	BEND2_HUMAN	L	338	ENSP00000369372:V338L	ENSP00000369372:V338L	V	-	1	0	BEND2	18129877	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-6.745000	0.00055	-1.362000	0.02166	0.411000	0.27672	GTC		0.453	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		G	18219956	C	G	18219956	3	3	194	1	0	0	0	0	1	0	0	0	1398	478	17	4	1449	4	BEND2	23	18219956	Missense_Mutation	SNP	C	TCGA-B0-5110-01A-01D-1421-08	14979471	18219956	137050604	69	12055											
PABPC5	140886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	90691350	90691350	+	Silent	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:90691350C>T	ENST00000312600.3	+	2	988	c.774C>T	c.(772-774)gaC>gaT	p.D258D	PABPC5_ENST00000373105.1_Silent_p.D94D|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	258	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D258D(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGTGCTAGACTTGCATGGAA	0.468																																																1	Substitution - coding silent(1)	kidney(1)											72	71	71					X																	90691350		2203	4300	6503	SO:0001819	synonymous_variant	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.774C>T	X.37:g.90691350C>T			A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	ENST00000312600.3	37	CCDS14460.1																																																																																				0.468	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		T	90691350	C	T	90691350	2	4	194	1	0	0	0	0	0	0	0	1	11369	564	20	2		2	PABPC5	23	90691350	Silent	SNP	C	TCGA-B0-5110-01A-01D-1421-08	72471394	90691350	64579210	70	12056											
ODZ1	10178	hgsc.bcm.edu	37	X	123654451	123654452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:123654451_123654452insG	ENST00000371130.3	-	18	3279_3280	c.3216_3217insC	c.(3214-3219)cccgccfs	p.A1073fs	TENM1_ENST00000422452.2_Frame_Shift_Ins_p.A1073fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1073					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A1075S(1)									TTAATTGCGGCGGGAAACCACT	0.47																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3217dupC	X.37:g.123654454_123654454dupG	ENSP00000360171:p.Ala1073fs		B2RTR5|Q5JZ17	Frame_Shift_Ins	INS	ENST00000371130.3	37	CCDS14609.1																																																																																				0.47	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		G	123654452	-	G	123654451	7	5	194	1	0	1	1	0	0	0	0	0	10836	768	27	0	5041	0	ODZ1	23	123654451	Frame_Shift_Ins	INS	-	TCGA-B0-5110-01A-01D-1421-08	32963101	123654451	31616109	71	12057											
GABRQ	55879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151818948	151818948	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:151818948T>C	ENST00000370306.2	+	7	826	c.806T>C	c.(805-807)cTt>cCt	p.L269P		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	269					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.L269P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACAGCTACCTTGTGCAAGTC	0.498																																																1	Substitution - Missense(1)	kidney(1)											363	294	317					X																	151818948		2203	4300	6503	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.806T>C	X.37:g.151818948T>C	ENSP00000359329:p.Leu269Pro		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346939	0.61183	.	.	ENSG00000147402	ENST00000370306	D	0.85629	-2.01	6.08	6.08	0.98989	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.45606	D	0.000343	D	0.91294	0.7255	M	0.84846	2.72	0.80722	D	1	D	0.65815	0.995	P	0.57244	0.816	D	0.92503	0.6010	10	0.87932	D	0	.	13.2767	0.60191	0.0:0.0:0.0:1.0	.	269	Q9UN88	GBRT_HUMAN	P	269	ENSP00000359329:L269P	ENSP00000359329:L269P	L	+	2	0	GABRQ	151569604	1.000000	0.71417	0.438000	0.26821	0.254000	0.26022	8.020000	0.88740	2.044000	0.60594	0.486000	0.48141	CTT		0.498	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		C	151818948	T	C	151818948	3	2	194	1	0	0	0	0	1	0	0	0	6177	1609	56	3	832	3	GABRQ	23	151818948	Missense_Mutation	SNP	T	TCGA-B0-5110-01A-01D-1421-08	28164497	151818948	3451612	72	12058											
SLC6A8	6535	broad.mit.edu	37	X	152954167	152954167	+	Silent	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:152954167C>A	ENST00000253122.5	+	1	614	c.138C>A	c.(136-138)cgC>cgA	p.R46R	SLC6A8_ENST00000430077.2_5'Flank	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	46					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R46R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCGGCGGCCGCCTGGCCGTGC	0.751																																																1	Substitution - coding silent(1)	kidney(1)											14	12	13					X																	152954167		2185	4261	6446	SO:0001819	synonymous_variant	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.138C>A	X.37:g.152954167C>A			B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	CCDS14726.1																																																																																				0.751	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			A	152954167	C	A	152954167	2	1	194	1	0	0	0	0	0	0	0	1	14696	726	26	4		4	SLC6A8	23	152954167	Silent	SNP	C	TCGA-B0-5110-01A-01D-1421-08	1135219	152954167	2316393	73	12059											
VHL	7428	hgsc.bcm.edu	37	3	10183794	10183794	+	Missense_Mutation	SNP	G	G	T	rs119103277		TCGA-B0-5110-01A-01W-1475-10	TCGA-B0-5110-11A-01W-1475-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	0399f90c-5559-4133-bb49-6c173550d76a	5f350c92-67ce-4ba9-91a3-9ea27f65a2e4	g.chr3:10183794G>T	ENST00000256474.2	+	1	1103	c.263G>T	c.(262-264)tGg>tTg	p.W88L	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.W88L	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	88			W -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|W -> S (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W88*(6)|p.W88L(3)|p.W88fs*71(3)|p.V87_W88del(2)|p.W88S(2)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGCCCGTATGGCTCAACTTC	0.726		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	19	Substitution - Nonsense(6)|Substitution - Missense(5)|Deletion - Frameshift(5)|Deletion - In frame(2)|Complex - deletion inframe(1)	kidney(17)|endometrium(1)|soft_tissue(1)	GRCh37	CM951277|HX971376	VHL	M|X	rs119103277						13	16	15					3																	10183794		2111	4166	6277	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.263G>T	3.37:g.10183794G>T	ENSP00000256474:p.Trp88Leu		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190572	0.94923	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99961	-9.37;-9.37	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	M	0.84773	2.715	0.41389	D	0.987602	D;D	0.76494	0.996;0.999	D;D	0.78314	0.991;0.975	D	0.94955	0.8103	10	0.59425	D	0.04	-1.5857	16.0203	0.80478	0.0:0.0:1.0:0.0	.	88;88	P40337-2;P40337	.;VHL_HUMAN	L	88	ENSP00000256474:W88L;ENSP00000344757:W88L	ENSP00000256474:W88L	W	+	2	0	VHL	10158794	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	5.961000	0.70356	2.368000	0.80403	0.479000	0.44913	TGG		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183794	G	T	10183794	3	4	195	1	0	0	0	0	1	0	0	0	17167	1357	47	4	265	4	VHL	3	10183794	Missense_Mutation	SNP	G	TCGA-B0-5110-01A-01W-1475-10		10183794	187838636	1	12060											
DNALI1	79753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	38022628	38022628	+	5'Flank	SNP	C	C	T			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr1:38022628C>T	ENST00000296215.6	-	0	0				SNIP1_ENST00000468040.1_5'Flank|DNALI1_ENST00000541606.1_5'UTR|DNALI1_ENST00000296218.7_Silent_p.Y33Y	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Y33Y(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TGCTCAAGTACGACACCCCAG	0.602																																																1	Substitution - coding silent(1)	kidney(1)											68	66	67					1																	38022628		2203	4300	6503	SO:0001631	upstream_gene_variant	7802				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225		1.37:g.38022628C>T	Exception_encountered		Q96SP9|Q9H9T7	Silent	SNP	ENST00000296215.6	37	CCDS419.1																																																																																				0.602	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		T	38022628	C	T	38022628	1	4	196	0	1	0	0	0	0	0	0	0	4661	547	19	1		1	DNALI1	1	38022628	5'Flank	SNP	C	TCGA-B0-5113-01A-01D-1421-08		38022628	211227993	1	12061											
CACHD1	57685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	65143848	65143848	+	Silent	SNP	T	T	C			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr1:65143848T>C	ENST00000371073.2	+	23	3099	c.3099T>C	c.(3097-3099)tgT>tgC	p.C1033C	CACHD1_ENST00000290039.5_Silent_p.C982C|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1033					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.C982C(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCAGGGACTGTTTTGGGGTGC	0.507																																																1	Substitution - coding silent(1)	kidney(1)											118	108	111					1																	65143848		2203	4300	6503	SO:0001819	synonymous_variant	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3099T>C	1.37:g.65143848T>C			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37																																																																																					0.507	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		C	65143848	T	C	65143848	2	2	196	1	0	0	0	0	0	0	0	1	2539	1731	60	3		3	CACHD1	1	65143848	Silent	SNP	T	TCGA-B0-5113-01A-01D-1421-08	27121220	65143848	184106773	2	12062											
ZZZ3	26009	broad.mit.edu;hgsc.bcm.edu	37	1	78045311	78045311	+	Silent	SNP	T	T	C			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr1:78045311T>C	ENST00000370801.3	-	10	2458	c.1983A>G	c.(1981-1983)aaA>aaG	p.K661K	ZZZ3_ENST00000370798.1_Silent_p.K167K|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	661	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K661K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GTTCCAGCTTTTTCTAAGCCA	0.338																																																1	Substitution - coding silent(1)	kidney(1)											145	140	142					1																	78045311		2203	4300	6503	SO:0001819	synonymous_variant	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1983A>G	1.37:g.78045311T>C			B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	ENST00000370801.3	37	CCDS677.1																																																																																				0.338	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		C	78045311	T	C	78045311	2	2	196	1	0	0	0	0	0	0	0	1	18261	1838	64	3		3	ZZZ3	1	78045311	Silent	SNP	T	TCGA-B0-5113-01A-01D-1421-08	12901463	78045311	171205310	3	12063											
NEXN	91624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78383401	78383401	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr1:78383401C>A	ENST00000334785.7	+	3	362	c.178C>A	c.(178-180)Caa>Aaa	p.Q60K	NEXN_ENST00000457030.1_Missense_Mutation_p.Q60K|NEXN_ENST00000330010.8_Intron|NEXN_ENST00000294624.8_Missense_Mutation_p.Q60K	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)									p.Q60K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAGAAAAGAACAATATATTAG	0.333																																																1	Substitution - Missense(1)	kidney(1)											58	53	55					1																	78383401		1814	4076	5890	SO:0001583	missense	91624			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.178C>A	1.37:g.78383401C>A	ENSP00000333938:p.Gln60Lys			Missense_Mutation	SNP	ENST00000334785.7	37	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315433	0.81358	.	.	ENSG00000162614	ENST00000457030;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T	0.66280	0.2;-0.2;0.19;-0.13	5.36	5.36	0.76844	.	0.000000	0.47455	D	0.000236	T	0.68906	0.3052	L	0.49126	1.545	0.49389	D	0.999783	D	0.64830	0.994	D	0.69654	0.965	T	0.63743	-0.6568	10	0.33141	T	0.24	-28.8025	19.4565	0.94892	0.0:1.0:0.0:0.0	.	60	Q0ZGT2	NEXN_HUMAN	K	60	ENSP00000388048:Q60K;ENSP00000294624:Q60K;ENSP00000333938:Q60K;ENSP00000411902:Q60K	ENSP00000294624:Q60K	Q	+	1	0	NEXN	78155989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.319000	0.79040	2.682000	0.91365	0.650000	0.86243	CAA		0.333	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		A	78383401	C	A	78383401	3	1	196	1	0	0	0	0	1	0	0	0	10357	479	17	4	184	4	NEXN	1	78383401	Missense_Mutation	SNP	C	TCGA-B0-5113-01A-01D-1421-08	338090	78383401	170867220	4	12064											
DNTTIP2	30836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94335473	94335473	+	Silent	SNP	G	G	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr1:94335473G>A	ENST00000436063.2	-	7	2262	c.2205C>T	c.(2203-2205)atC>atT	p.I735I		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	735					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I735I(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTCAGCCATGATCTCTGAGT	0.333																																																1	Substitution - coding silent(1)	kidney(1)											117	109	112					1																	94335473		1830	4076	5906	SO:0001819	synonymous_variant	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.2205C>T	1.37:g.94335473G>A			Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	CCDS44174.1																																																																																				0.333	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		A	94335473	G	A	94335473	2	1	196	1	0	0	0	0	0	0	0	1	4684	1280	45	2		2	DNTTIP2	1	94335473	Silent	SNP	G	TCGA-B0-5113-01A-01D-1421-08	15952072	94335473	154915148	5	12065											
B4GALT3	8703	hgsc.bcm.edu;ucsc.edu	37	1	161141850	161141851	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr1:161141850_161141851insA	ENST00000319769.5	-	8	1159_1160	c.937_938insT	c.(937-939)tccfs	p.S313fs	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.S313fs	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	313					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TTGCGTCCAGGAATTCTGGGTA	0.505																																																0																																										SO:0001589	frameshift_variant	8703			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"Beta 4-glycosyltransferases"	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.938dupT	1.37:g.161141852_161141852dupA	ENSP00000320965:p.Ser313fs		D3DVG3|O60910|Q9BPZ4|Q9H8T2	Frame_Shift_Ins	INS	ENST00000319769.5	37	CCDS1222.1																																																																																				0.505	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		A	161141851	-	A	161141850	7	5	196	1	0	1	1	0	0	0	0	0	1272	1174	41	0	247	0	B4GALT3	1	161141850	Frame_Shift_Ins	INS	-	TCGA-B0-5113-01A-01D-1421-08	66806377	161141850	88108771	6	12066											
CFH	3075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	196695938	196695938	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr1:196695938G>A	ENST00000367429.4	+	14	2344	c.2104G>A	c.(2104-2106)Gcc>Acc	p.A702T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	702	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.A702T(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACATGGCTGGGCCCAGCTTTC	0.363																																																1	Substitution - Missense(1)	kidney(1)											120	120	120					1																	196695938		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2104G>A	1.37:g.196695938G>A	ENSP00000356399:p.Ala702Thr		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528785	0.27387	.	.	ENSG00000000971	ENST00000367429	T	0.63417	-0.04	5.8	0.301	0.15781	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.44561	0.1299	L	0.33668	1.02	0.09310	N	1	B	0.19706	0.038	B	0.16289	0.015	T	0.23940	-1.0174	9	0.22706	T	0.39	.	6.3376	0.21304	0.2985:0.0:0.5767:0.1248	.	702	P08603	CFAH_HUMAN	T	702	ENSP00000356399:A702T	ENSP00000356399:A702T	A	+	1	0	CFH	194962561	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.122000	0.10627	0.036000	0.15547	-2.134000	0.00341	GCC		0.363	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		A	196695938	G	A	196695938	3	1	196	1	0	0	0	0	1	0	0	0	3285	1203	42	2	2176	2	CFH	1	196695938	Missense_Mutation	SNP	G	TCGA-B0-5113-01A-01D-1421-08	35554088	196695938	52554683	7	12067											
NR5A2	2494	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200014711	200014711	+	Splice_Site	SNP	A	A	C			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr1:200014711A>C	ENST00000367362.3	+	4	708	c.462A>C	c.(460-462)gaA>gaC	p.E154D	NR5A2_ENST00000544748.1_Splice_Site_p.E82D|NR5A2_ENST00000236914.3_Splice_Site_p.E108D	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	154					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E154D(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TGAAGCTAGAAGGTAAGATTC	0.358																																					Melanoma(179;1138 2773 15678 26136)											1	Substitution - Missense(1)	kidney(1)											74	75	75					1																	200014711		2203	4300	6503	SO:0001630	splice_region_variant	2494			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.463+1A>C	1.37:g.200014711A>C			B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.225230|4.225230	0.79576|0.79576	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480|ENST00000367357	T;T;T|.	0.52526|.	0.66;0.66;0.66|.	5.5|5.5	4.34|4.34	0.51931|0.51931	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72922|0.72922	0.3521|0.3521	M|M	0.78344|0.78344	2.41|2.41	0.80722|0.80722	D|D	1|1	P;P|.	0.45594|.	0.862;0.721|.	P;P|.	0.53954|.	0.738;0.733|.	T|T	0.72827|0.72827	-0.4175|-0.4175	9|5	.|.	.|.	.|.	.|.	11.8418|11.8418	0.52359|0.52359	0.9302:0.0:0.0698:0.0|0.9302:0.0:0.0698:0.0	.|.	108;154|.	F1D8R9;O00482|.	.;NR5A2_HUMAN|.	D|T	154;108;82;74|75	ENSP00000356331:E154D;ENSP00000236914:E108D;ENSP00000439116:E82D|.	.|.	E|K	+|+	3|2	2|0	NR5A2|NR5A2	198281334|198281334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.189000|6.189000	0.72051|0.72051	0.980000|0.980000	0.38523|0.38523	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.358	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2		Missense_Mutation	C	200014711	A	C	200014711	5	2	196	1	0	0	0	0	0	0	1	0	10638	86	3	5	476	5	NR5A2	1	200014711	Splice_Site	SNP	A	TCGA-B0-5113-01A-01D-1421-08	3318773	200014711	49235910	8	12068											
REG1B	5968	hgsc.bcm.edu;ucsc.edu	37	2	79314032	79314032	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr2:79314032delG	ENST00000305089.3	-	3	169	c.89delC	c.(88-90)cctfs	p.P30fs		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	30					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.P30H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCGGGGATTAGGCAGCTCTGT	0.493																																																1	Substitution - Missense(1)	lung(1)											123	126	125					2																	79314032		2203	4300	6503	SO:0001589	frameshift_variant	5968				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"lithostathine 1 beta", "secretory pancreatic stone protein 2"	167771	"regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.89delC	2.37:g.79314032delG	ENSP00000303206:p.Pro30fs			Frame_Shift_Del	DEL	ENST00000305089.3	37	CCDS1963.1																																																																																				0.493	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		-	79314032	G	-	79314032	7	5	196	1	0	1	0	1	0	0	0	0	13217	1000	35	0	427	0	REG1B	2	79314032	Frame_Shift_Del	DEL	G	TCGA-B0-5113-01A-01D-1421-08		79314032	163885341	9	12069											
NDUFS1	4719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	206997774	206997774	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr2:206997774C>A	ENST00000233190.6	-	14	1714	c.1448G>T	c.(1447-1449)aGa>aTa	p.R483I	NDUFS1_ENST00000449699.1_Missense_Mutation_p.R483I|NDUFS1_ENST00000432169.1_Missense_Mutation_p.R372I|NDUFS1_ENST00000455934.2_Missense_Mutation_p.R497I|NDUFS1_ENST00000457011.1_Missense_Mutation_p.R367I|NDUFS1_ENST00000423725.1_Missense_Mutation_p.R426I|NDUFS1_ENST00000440274.1_Missense_Mutation_p.R447I	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	483					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R483I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCATCATTTCTTTGGAGTGC	0.343																																																1	Substitution - Missense(1)	kidney(1)											87	78	81					2																	206997774		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1448G>T	2.37:g.206997774C>A	ENSP00000233190:p.Arg483Ile		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025251	0.93518	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	6.17	6.17	0.99709	Molybdopterin oxidoreductase (1);	0.044888	0.85682	D	0.000000	D	0.96043	0.8711	M	0.92507	3.315	0.80722	D	1	P;D;D;D	0.60575	0.943;0.963;0.988;0.988	P;P;D;D	0.67231	0.828;0.896;0.95;0.928	D	0.95812	0.8842	10	0.72032	D	0.01	-13.1041	20.8794	0.99867	0.0:1.0:0.0:0.0	.	372;447;497;483	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	I	483;426;367;447;497;483;372	ENSP00000233190:R483I;ENSP00000397760:R426I;ENSP00000400976:R367I;ENSP00000409766:R447I;ENSP00000392709:R497I;ENSP00000399912:R483I;ENSP00000409689:R372I	ENSP00000233190:R483I	R	-	2	0	NDUFS1	206706019	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.454000	0.66651	2.941000	0.99782	0.655000	0.94253	AGA		0.343	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		A	206997774	C	A	206997774	3	1	196	1	0	0	0	0	1	0	0	0	10293	913	32	4	759	4	NDUFS1	2	206997774	Missense_Mutation	SNP	C	TCGA-B0-5113-01A-01D-1421-08	127683742	206997774	36201599	10	12070											
SP140L	93349	broad.mit.edu;hgsc.bcm.edu	37	2	231254640	231254641	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr2:231254640_231254641GA>TT	ENST00000415673.2	+	11	952_953	c.866_867GA>TT	c.(865-867)aGA>aTT	p.R289I	SP140L_ENST00000444636.1_Missense_Mutation_p.R289I|SP140L_ENST00000243810.6_Missense_Mutation_p.R289I|SP140L_ENST00000396563.4_Intron	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	289						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R289I(3)|p.R289S(2)|p.R289>?(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TCAGCTTCAAGAAAGCACAAAG	0.431																																																6	Substitution - Missense(5)|Complex(1)	kidney(6)																																								SO:0001583	missense	93349			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	Exception_encountered	2.37:g.231254640_231254641delinsTT	ENSP00000397911:p.Arg289Ile		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	CCDS46538.1																																																																																				0.431	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		TT	231254641	GA	TT	231254640	3	4	196	1	0	0	0	0	1	0	0	0	14969	942	33	4	908	4	SP140L	2	231254640	Missense_Mutation	DNP	GA	TCGA-B0-5113-01A-01D-1421-08	24256866	231254640	11944733	11	12071											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10191470	10191470	+	Splice_Site	SNP	G	G	T	rs5030817		TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr3:10191470G>T	ENST00000256474.2	+	3	1303		c.e3-1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(23)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCCCTTCCAGTGTATACTCT	0.493		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	23	Unknown(23)	kidney(21)|soft_tissue(2)	GRCh37	CS071276|CS941547|CS961706	VHL	S	rs5030817						88	80	83					3																	10191470		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.464-1G>T	3.37:g.10191470G>T			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923007	0.33908	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2774	0.73753	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10166470	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	7.062000	0.76706	2.535000	0.85469	0.655000	0.94253	.		0.493	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	T	10191470	G	T	10191470	5	4	196	1	0	0	0	0	0	0	1	0	17167	1043	36	4	473	4	VHL	3	10191470	Splice_Site	SNP	G	TCGA-B0-5113-01A-01D-1421-08		10191470	187830960	12	12072											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52621519	52621519	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr3:52621519delT	ENST00000296302.7	-	19	2974	c.2973delA	c.(2971-2973)aaafs	p.K991fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.K959fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K1006fs|PBRM1_ENST00000410007.1_Intron|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K991fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K1006fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K991fs			Q86U86	PB1_HUMAN	polybromo 1	991	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATACAACCATTTTTCACCTC	0.353			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													41	44	43					3																	52621519		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2973delA	3.37:g.52621519delT	ENSP00000296302:p.Lys991fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52621519	T	-	52621519	7	5	196	1	0	1	0	1	0	0	0	0	11493	1490	52	0	1975	0	PBRM1	3	52621519	Frame_Shift_Del	DEL	T	TCGA-B0-5113-01A-01D-1421-08	42430049	52621519	145400911	13	12073											
PKD2L2	51306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137275829	137275829	+	3'UTR	SNP	G	G	T	rs200078301		TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr5:137275829G>T	ENST00000033079.3	-	0	3284				PKD2L2_ENST00000508883.1_Intron|PKD2L2_ENST00000508638.1_3'UTR|PKD2L2_ENST00000290431.5_Missense_Mutation_p.R612L|PKD2L2_ENST00000502810.1_3'UTR	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R612L(1)		endometrium(4)|kidney(2)|lung(5)	11						CTGACAAAACGAATTTAAGTA	0.388																																																1	Substitution - Missense(1)	kidney(1)											134	133	133					5																	137275829		2203	4300	6503	SO:0001624	3_prime_UTR_variant	27039			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.*85C>A	5.37:g.137275829G>T			D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999647	0.35320	.	.	ENSG00000078795	ENST00000290431	T	0.66995	-0.24	5.34	4.47	0.54385	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	P	0.45594	0.862	B	0.31946	0.138	T	0.57985	-0.7716	8	0.66056	D	0.02	.	10.4298	0.44400	0.1495:0.0:0.8505:0.0	.	612	Q9NZM6-5	.	L	612	ENSP00000290431:R612L	ENSP00000290431:R612L	R	+	2	0	PKD2L2	137303728	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	1.800000	0.38833	1.386000	0.46466	-0.218000	0.12543	CGA		0.388	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			T	137275829	G	T	137275829	1	4	196	0	1	0	0	0	0	0	0	0	11970	1058	37	4		4	PKD2L2	5	137275829	3'UTR	SNP	G	TCGA-B0-5113-01A-01D-1421-08		137275829	43639431	14	12074											
RNF145	153830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	158603776	158603776	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr5:158603776A>C	ENST00000424310.2	-	5	844	c.485T>G	c.(484-486)cTt>cGt	p.L162R	RNF145_ENST00000519865.1_Missense_Mutation_p.L162R|RNF145_ENST00000518802.1_Missense_Mutation_p.L192R|RNF145_ENST00000520638.1_Missense_Mutation_p.L176R|RNF145_ENST00000521606.2_Missense_Mutation_p.L179R|RNF145_ENST00000274542.2_Missense_Mutation_p.L190R	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	162						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L190R(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAAGGAACAAGGCAGAGTCG	0.393																																																1	Substitution - Missense(1)	kidney(1)											54	53	53					5																	158603776		2202	4300	6502	SO:0001583	missense	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.485T>G	5.37:g.158603776A>C	ENSP00000409064:p.Leu162Arg		B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780284	0.49891	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.76968	-1.06;-1.04;-1.04;-1.05;-1.05;-1.06;-1.05	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	N	0.08118	0	0.80722	D	1	D;D;D;D;D;D	0.60160	0.987;0.987;0.987;0.987;0.987;0.983	P;P;P;P;P;P	0.57846	0.828;0.828;0.828;0.828;0.828;0.736	T	0.69018	-0.5256	10	0.12766	T	0.61	-16.6469	15.8333	0.78778	1.0:0.0:0.0:0.0	.	178;179;176;192;162;190	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	R	190;162;162;178;179;192;162;176	ENSP00000274542:L190R;ENSP00000430397:L162R;ENSP00000409064:L162R;ENSP00000430753:L178R;ENSP00000445115:L179R;ENSP00000430955:L192R;ENSP00000429071:L176R	ENSP00000274542:L190R	L	-	2	0	RNF145	158536354	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.576000	0.82467	2.200000	0.70718	0.377000	0.23210	CTT		0.393	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		C	158603776	A	C	158603776	3	2	196	1	0	0	0	0	1	0	0	0	13453	72	3	5	1534	5	RNF145	5	158603776	Missense_Mutation	SNP	A	TCGA-B0-5113-01A-01D-1421-08	21327947	158603776	22311484	15	12075											
HIST1H2BO	8348	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27861305	27861305	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr6:27861305C>T	ENST00000303806.4	+	1	103	c.65C>T	c.(64-66)gCc>gTc	p.A22V	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	22					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A22V(1)									GTAACCAAGGCCCAGAAAAAG	0.547																																																1	Substitution - Missense(1)	kidney(1)											87	87	87					6																	27861305		2203	4300	6503	SO:0001583	missense	8348			X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.65C>T	6.37:g.27861305C>T	ENSP00000303408:p.Ala22Val		Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922265	0.52653	.	.	ENSG00000196331	ENST00000303806	T	0.23147	1.92	3.7	3.7	0.42460	Histone-fold (2);	.	.	.	.	T	0.09555	0.0235	N	0.25094	0.71	0.33794	D	0.625829	B	0.21225	0.053	B	0.12837	0.008	T	0.08785	-1.0705	9	0.48119	T	0.1	.	15.2409	0.73468	0.0:1.0:0.0:0.0	.	22	P23527	H2B1O_HUMAN	V	22	ENSP00000303408:A22V	ENSP00000303408:A22V	A	+	2	0	HIST1H2BO	27969284	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	5.329000	0.65892	2.356000	0.79943	0.561000	0.74099	GCC		0.547	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		T	27861305	C	T	27861305	3	4	196	1	0	0	0	0	1	0	0	0	7156	739	26	2	67	2	HIST1H2BO	6	27861305	Missense_Mutation	SNP	C	TCGA-B0-5113-01A-01D-1421-08		27861305	143253762	16	12076											
COL11A2	1302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33133477	33133477	+	Silent	SNP	G	G	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr6:33133477G>A	ENST00000374708.4	-	61	4599	c.4341C>T	c.(4339-4341)gcC>gcT	p.A1447A	COL11A2_ENST00000374713.1_Silent_p.A1486A|COL11A2_ENST00000341947.2_Silent_p.A1533A|COL11A2_ENST00000361917.1_Silent_p.A1426A|COL11A2_ENST00000357486.1_Silent_p.A1512A|COL11A2_ENST00000374712.1_Silent_p.A1452A|COL11A2_ENST00000374714.1_Silent_p.A1507A|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000395197.1_Silent_p.A1473A	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1533	Collagen-like 8.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.A1533A(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GACTGCCGGGGGCTCCCCCGG	0.642																																					Melanoma(1;90 116 3946 5341 17093)											1	Substitution - coding silent(1)	kidney(1)											52	54	53					6																	33133477		2203	4300	6503	SO:0001819	synonymous_variant	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4341C>T	6.37:g.33133477G>A			A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	CCDS43452.1																																																																																				0.642	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			A	33133477	G	A	33133477	2	1	196	1	0	0	0	0	0	0	0	1	3670	1219	43	2		2	COL11A2	6	33133477	Silent	SNP	G	TCGA-B0-5113-01A-01D-1421-08	5272172	33133477	137981590	17	12077											
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	77766976	77766976	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr8:77766976C>G	ENST00000521891.2	+	10	8267	c.7819C>G	c.(7819-7821)Cgc>Ggc	p.R2607G	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2562G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2562G|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2581G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R2591G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCGAGATAAACGCTTGAGAAC	0.423										HNSCC(33;0.089)																																						1	Substitution - Missense(1)	kidney(1)											49	48	48					8																	77766976		1903	4113	6016	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7819C>G	8.37:g.77766976C>G	ENSP00000430497:p.Arg2607Gly		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029891	0.35797	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	5.38	5.38	0.77491	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.45361	U	0.000365	D	0.98811	0.9599	H	0.94222	3.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.998	D	0.99184	1.0868	10	0.87932	D	0	.	14.1941	0.65659	0.1493:0.8506:0.0:0.0	.	2562;2562;2607	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	G	2607;2591;2562;2562;2581	ENSP00000430497:R2607G;ENSP00000399605:R2562G;ENSP00000050961:R2562G;ENSP00000430848:R2581G	ENSP00000050961:R2562G	R	+	1	0	ZFHX4	77929531	1.000000	0.71417	0.985000	0.45067	0.627000	0.37826	5.772000	0.68889	2.791000	0.96007	0.650000	0.86243	CGC		0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		G	77766976	C	G	77766976	3	3	196	1	0	0	0	0	1	0	0	0	17640	536	19	4	7853	4	ZFHX4	8	77766976	Missense_Mutation	SNP	C	TCGA-B0-5113-01A-01D-1421-08		77766976	68597046	18	12078											
ANKRD26	22852	hgsc.bcm.edu;ucsc.edu	37	10	27303499	27303499	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr10:27303499delT	ENST00000376087.4	-	31	4813	c.4648delA	c.(4648-4650)accfs	p.T1550fs	ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.T1566fs|ANKRD26_ENST00000376070.3_Frame_Shift_Del_p.T1107fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1549					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCAGTTCGGTTTTATTAAAG	0.284																																																0													52	48	49					10																	27303499		1779	4050	5829	SO:0001589	frameshift_variant	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4648delA	10.37:g.27303499delT	ENSP00000365255:p.Thr1550fs		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Frame_Shift_Del	DEL	ENST00000376087.4	37	CCDS41499.1																																																																																				0.284	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			-	27303499	T	-	27303499	7	5	196	1	0	1	0	1	0	0	0	0	654	1725	60	0	500	0	ANKRD26	10	27303499	Frame_Shift_Del	DEL	T	TCGA-B0-5113-01A-01D-1421-08		27303499	108231248	19	12079											
MYPN	84665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	69926368	69926368	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr10:69926368C>A	ENST00000358913.5	+	10	2406	c.1918C>A	c.(1918-1920)Cca>Aca	p.P640T	MYPN_ENST00000540630.1_Missense_Mutation_p.P640T|MYPN_ENST00000354393.2_Missense_Mutation_p.P365T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	640					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.P640T(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AACAAAAACCCCAGAGCCTTC	0.517																																																1	Substitution - Missense(1)	kidney(1)											54	52	53					10																	69926368		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1918C>A	10.37:g.69926368C>A	ENSP00000351790:p.Pro640Thr		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	3.102	-0.184610	0.06340	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.60672	0.17;0.32;0.29	5.43	-2.49	0.06403	.	0.923109	0.09184	N	0.837058	T	0.52191	0.1719	M	0.68593	2.085	0.09310	N	1	B;B;B	0.30686	0.29;0.034;0.02	B;B;B	0.29077	0.098;0.033;0.014	T	0.39663	-0.9603	9	.	.	.	.	11.4434	0.50110	0.0:0.4588:0.0:0.5412	.	640;365;640	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	T	365;365;640;640	ENSP00000346369:P365T;ENSP00000351790:P640T;ENSP00000441668:P640T	.	P	+	1	0	MYPN	69596374	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.470000	0.06639	-0.911000	0.03843	-0.345000	0.07892	CCA		0.517	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		A	69926368	C	A	69926368	3	1	196	1	0	0	0	0	1	0	0	0	10100	623	22	4	1952	4	MYPN	10	69926368	Missense_Mutation	SNP	C	TCGA-B0-5113-01A-01D-1421-08	42622869	69926368	65608379	20	12080											
C11orf24	53838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68029634	68029634	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr11:68029634G>A	ENST00000304271.6	-	4	1231	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'Flank	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	277	Pro-rich.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P277S(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GTGTTTGAGGGCATGGGTGTG	0.592																																					NSCLC(21;855 905 4198 36694)											1	Substitution - Missense(1)	kidney(1)											86	91	90					11																	68029634		2200	4294	6494	SO:0001583	missense	53838			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.829C>T	11.37:g.68029634G>A	ENSP00000307264:p.Pro277Ser		Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665218	0.47677	.	.	ENSG00000171067	ENST00000304271	T	0.35048	1.33	4.5	2.59	0.31030	.	0.254221	0.20840	N	0.084728	T	0.24198	0.0586	L	0.34521	1.04	0.09310	N	0.999998	P	0.41784	0.762	B	0.42555	0.391	T	0.11251	-1.0595	10	0.10111	T	0.7	-7.1457	7.0504	0.25069	0.0936:0.334:0.5725:0.0	.	277	Q96F05	CK024_HUMAN	S	277	ENSP00000307264:P277S	ENSP00000307264:P277S	P	-	1	0	C11orf24	67786210	0.727000	0.28069	0.082000	0.20525	0.145000	0.21501	3.458000	0.53014	0.464000	0.27142	0.289000	0.19496	CCC		0.592	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		A	68029634	G	A	68029634	3	1	196	1	0	0	0	0	1	0	0	0	1637	1203	42	2	524	2	C11orf24	11	68029634	Missense_Mutation	SNP	G	TCGA-B0-5113-01A-01D-1421-08		68029634	66976882	21	12081											
ODZ4	26011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	78412936	78412936	+	Silent	SNP	G	G	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr11:78412936G>A	ENST00000278550.7	-	28	5184	c.4722C>T	c.(4720-4722)aaC>aaT	p.N1574N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1574					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.N1574N(2)									GCTCATACATGTTCTGGGTGT	0.527																																																2	Substitution - coding silent(2)	kidney(2)											115	121	119					11																	78412936		2069	4188	6257	SO:0001819	synonymous_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4722C>T	11.37:g.78412936G>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.527	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78412936	G	A	78412936	2	1	196	1	0	0	0	0	0	0	0	1	10839	1368	48	2		2	ODZ4	11	78412936	Silent	SNP	G	TCGA-B0-5113-01A-01D-1421-08	10383302	78412936	56593580	22	12082											
SLC6A13	6540	hgsc.bcm.edu;ucsc.edu	37	12	335652	335652	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr12:335652T>C	ENST00000343164.4	-	9	1016	c.964A>G	c.(964-966)Agc>Ggc	p.S322G	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Missense_Mutation_p.S230G	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	322					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CTGGTGCCGCTGTTGAGGAAG	0.617																																																0													61	54	56					12																	335652		2203	4300	6503	SO:0001583	missense	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.964A>G	12.37:g.335652T>C	ENSP00000339260:p.Ser322Gly		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.863727	0.91511	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.75367	-0.93;-0.93	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	M	0.85630	2.765	0.80722	D	1	B;B	0.31989	0.35;0.251	B;B	0.44163	0.443;0.288	D	0.84117	0.0404	10	0.56958	D	0.05	.	15.3028	0.73966	0.0:0.0:0.0:1.0	.	230;322	B4DJL1;Q9NSD5	.;S6A13_HUMAN	G	230;301;322	ENSP00000407104:S230G;ENSP00000339260:S322G	ENSP00000318097:S301G	S	-	1	0	SLC6A13	205913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.974000	0.88039	2.010000	0.58986	0.402000	0.26972	AGC		0.617	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		C	335652	T	C	335652	3	2	196	1	0	0	0	0	1	0	0	0	14682	1580	55	3	872	3	SLC6A13	12	335652	Missense_Mutation	SNP	T	TCGA-B0-5113-01A-01D-1421-08		335652	133516243	23	12083											
AP4E1	23431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51216161	51216161	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr15:51216161G>T	ENST00000261842.5	+	4	486	c.380G>T	c.(379-381)aGt>aTt	p.S127I	AP4E1_ENST00000560508.1_Missense_Mutation_p.S52I	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	127					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.S127I(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTACATGAAAGTCATGAATTA	0.318																																																1	Substitution - Missense(1)	kidney(1)											191	177	182					15																	51216161		2194	4294	6488	SO:0001583	missense	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.380G>T	15.37:g.51216161G>T	ENSP00000261842:p.Ser127Ile		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790627	0.50102	.	.	ENSG00000081014	ENST00000261842	T	0.28895	1.59	5.55	0.128	0.14733	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.385848	0.33631	N	0.004704	T	0.30665	0.0772	L	0.38175	1.15	0.34723	D	0.728923	P;P	0.39071	0.57;0.658	B;P	0.48598	0.27;0.583	T	0.40384	-0.9566	10	0.62326	D	0.03	-2.2854	9.4165	0.38525	0.7657:0.0:0.2343:0.0	.	127;127	B4DM48;Q9UPM8	.;AP4E1_HUMAN	I	127	ENSP00000261842:S127I	ENSP00000261842:S127I	S	+	2	0	AP4E1	49003453	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	0.835000	0.27531	-0.075000	0.12798	0.591000	0.81541	AGT		0.318	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			T	51216161	G	T	51216161	3	4	196	1	0	0	0	0	1	0	0	0	752	1029	36	4	394	4	AP4E1	15	51216161	Missense_Mutation	SNP	G	TCGA-B0-5113-01A-01D-1421-08		51216161	51315231	24	12084											
AP4E1	23431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51217400	51217400	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr15:51217400A>T	ENST00000261842.5	+	5	632	c.526A>T	c.(526-528)Aaa>Taa	p.K176*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.K101*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	176					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.K176*(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATAGAAGATAAACTTCAACA	0.353																																																1	Substitution - Nonsense(1)	kidney(1)											91	83	86					15																	51217400		2196	4294	6490	SO:0001587	stop_gained	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.526A>T	15.37:g.51217400A>T	ENSP00000261842:p.Lys176*		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Nonsense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	37	6.300420	0.97453	.	.	ENSG00000081014	ENST00000261842	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-23.0417	14.8349	0.70175	1.0:0.0:0.0:0.0	.	.	.	.	X	176	.	ENSP00000261842:K176X	K	+	1	0	AP4E1	49004692	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.932000	0.92897	2.099000	0.63709	0.377000	0.23210	AAA		0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			T	51217400	A	T	51217400	4	4	196	1	0	0	0	0	0	1	0	0	752	363	13	5	544	5	AP4E1	15	51217400	Nonsense_Mutation	SNP	A	TCGA-B0-5113-01A-01D-1421-08	1239	51217400	51313992	25	12085											
CBLN1	869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	49313372	49313372	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr16:49313372G>C	ENST00000219197.6	-	3	890	c.525C>G	c.(523-525)aaC>aaG	p.N175K	CBLN1_ENST00000536749.1_Missense_Mutation_p.N175K	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	175	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)		p.N175K(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				CCCCCATCAAGTTTCCCCGCT	0.612																																																1	Substitution - Missense(1)	kidney(1)											112	106	108					16																	49313372		2200	4300	6500	SO:0001583	missense	869			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.525C>G	16.37:g.49313372G>C	ENSP00000219197:p.Asn175Lys		B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	ENST00000219197.6	37	CCDS10736.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908140	0.72868	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	T;T	0.37058	1.22;1.22	5.49	5.49	0.81192	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	L	0.28740	0.885	0.80722	D	1	P	0.50156	0.932	P	0.56216	0.794	T	0.03025	-1.1081	10	0.15952	T	0.53	-19.617	13.0149	0.58751	0.0741:0.0:0.9259:0.0	.	175	P23435	CBLN1_HUMAN	K	175	ENSP00000219197:N175K;ENSP00000444651:N175K	ENSP00000219197:N175K	N	-	3	2	CBLN1	47870873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.901000	0.87382	2.716000	0.92895	0.655000	0.94253	AAC		0.612	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352		C	49313372	G	C	49313372	3	2	196	1	0	0	0	0	1	0	0	0	2706	1020	36	4	60	4	CBLN1	16	49313372	Missense_Mutation	SNP	G	TCGA-B0-5113-01A-01D-1421-08		49313372	41041381	26	12086											
P2RX1	5023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3807223	3807223	+	Splice_Site	SNP	G	G	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr17:3807223G>A	ENST00000225538.3	-	5	797	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	175					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.R175C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GAGTGTTACCGCGGGATGTCG	0.572																																																1	Substitution - Missense(1)	kidney(1)											93	76	82					17																	3807223		2203	4300	6503	SO:0001630	splice_region_variant	5023			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.524+1C>T	17.37:g.3807223G>A			Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451602	0.43531	.	.	ENSG00000108405	ENST00000225538	T	0.04502	3.61	5.44	-5.31	0.02730	.	0.608667	0.18136	N	0.150576	T	0.04452	0.0122	M	0.62723	1.935	0.21105	N	0.999781	B	0.10296	0.003	B	0.08055	0.003	T	0.33752	-0.9856	10	0.59425	D	0.04	-23.7932	4.5038	0.11878	0.076:0.1558:0.2074:0.5608	.	175	P51575	P2RX1_HUMAN	C	175	ENSP00000225538:R175C	ENSP00000225538:R175C	R	-	1	0	P2RX1	3753972	0.520000	0.26250	0.042000	0.18584	0.018000	0.09664	0.789000	0.26886	-0.439000	0.07222	0.655000	0.94253	CGC		0.572	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558	Missense_Mutation	A	3807223	G	A	3807223	5	1	196	1	0	0	0	0	0	0	1	0	11341	1101	38	1	708	1	P2RX1	17	3807223	Splice_Site	SNP	G	TCGA-B0-5113-01A-01D-1421-08		3807223	77387987	27	12087											
C17orf49	124944	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	6919830	6919830	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr17:6919830A>G	ENST00000439424.2	+	4	311	c.235A>G	c.(235-237)Act>Gct	p.T79A	AC040977.1_ENST00000593646.1_5'Flank|MIR497HG_ENST00000385194.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000546495.1_Missense_Mutation_p.T79A|MIR497HG_ENST00000443997.1_RNA|MIR497HG_ENST00000385056.1_RNA|C17orf49_ENST00000546760.1_Missense_Mutation_p.T79A|C17orf49_ENST00000547709.1_3'UTR|C17orf49_ENST00000552402.1_Missense_Mutation_p.T45A|C17orf49_ENST00000552775.1_Missense_Mutation_p.T53A|RNASEK-C17orf49_ENST00000547302.2_Silent_p.P119P|RP11-589P10.7_ENST00000572547.1_RNA	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	79	SANT.				chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T79A(2)		kidney(1)|large_intestine(2)|ovary(1)	4						GATAAAGGCCACTGTGAAACG	0.527																																																2	Substitution - Missense(2)	kidney(2)											117	123	121					17																	6919830		2203	4300	6503	SO:0001583	missense	124944			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"BPTF associated protein of 18 kDa", "human embryo lung cellular protein interacting with SARS-CoV nsp-10"						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000439424.2:c.235A>G	17.37:g.6919830A>G	ENSP00000411851:p.Thr79Ala		B4DIV3|C9J4G0|E9PB29	Missense_Mutation	SNP	ENST00000439424.2	37	CCDS32542.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642278	0.29246	.	.	ENSG00000161939;ENSG00000161939;ENSG00000258315;ENSG00000258315;ENSG00000258315;ENSG00000258315;ENSG00000258315	ENST00000293804;ENST00000455303;ENST00000546495;ENST00000546760;ENST00000552402;ENST00000439424;ENST00000552775	.	.	.	4.89	4.89	0.63831	SANT domain, DNA binding (1);	0.057545	0.64402	D	0.000002	T	0.30008	0.0751	N	0.21282	0.65	0.30126	N	0.805252	B;B;B;B	0.23854	0.009;0.092;0.004;0.038	B;B;B;B	0.29176	0.022;0.099;0.009;0.069	T	0.35624	-0.9781	8	0.11485	T	0.65	-18.4508	7.3075	0.26455	0.9012:0.0:0.0988:0.0	.	45;79;79;53	E9PB29;C9J4G0;Q8IXM2;F8W1H0	.;.;BAP18_HUMAN;.	A	79;45;79;79;45;79;53	.	ENSP00000411851:T79A	T	+	1	0	AC040977.1;C17orf49	6860554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.161000	0.71868	1.828000	0.53243	0.533000	0.62120	ACT		0.527	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407666.1	NM_174893		G	6919830	A	G	6919830	3	3	196	1	0	0	0	0	1	0	0	0	1862	159	6	3	249	3	C17orf49	17	6919830	Missense_Mutation	SNP	A	TCGA-B0-5113-01A-01D-1421-08	3112607	6919830	74275380	28	12088											
WNT3	7473	hgsc.bcm.edu	37	17	44851096	44851097	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr17:44851096_44851097insG	ENST00000225512.5	-	2	421_422	c.259_260insC	c.(259-261)cgcfs	p.R87fs		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	87					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GTTCCAGCGGCGGCCCCGGAAC	0.644																																																0																																										SO:0001589	frameshift_variant	7473			AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"Wingless-type MMTV integration sites", "Endogenous ligands"	12782	protein-coding gene	gene with protein product	"WNT-3 proto-oncogene protein"	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.260dupC	17.37:g.44851098_44851098dupG	ENSP00000225512:p.Arg87fs		Q2M237|Q9H1J9	Frame_Shift_Ins	INS	ENST00000225512.5	37	CCDS11505.1																																																																																				0.644	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		G	44851097	-	G	44851096	7	5	196	1	0	1	1	0	0	0	0	0	17393	768	27	0	819	0	WNT3	17	44851096	Frame_Shift_Ins	INS	-	TCGA-B0-5113-01A-01D-1421-08	37931266	44851096	36344114	29	12089											
TMEM104	54868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72832324	72832324	+	Missense_Mutation	SNP	G	G	T	rs372516123		TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr17:72832324G>T	ENST00000335464.5	+	10	1151	c.989G>T	c.(988-990)cGc>cTc	p.R330L	TMEM104_ENST00000582330.1_Missense_Mutation_p.R330L|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	330						integral component of membrane (GO:0016021)		p.R330L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TTCTGCTTCCGCGGCGACAGC	0.622																																																1	Substitution - Missense(1)	kidney(1)											246	193	211					17																	72832324		2203	4300	6503	SO:0001583	missense	54868			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.989G>T	17.37:g.72832324G>T	ENSP00000334849:p.Arg330Leu		Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	g	14.90	2.672838	0.47781	.	.	ENSG00000109066	ENST00000335464	T	0.30448	1.53	5.26	4.27	0.50696	.	0.188602	0.56097	D	0.000021	T	0.22360	0.0539	L	0.36672	1.1	0.30838	N	0.735975	B	0.30851	0.297	B	0.31946	0.138	T	0.08269	-1.0730	10	0.10902	T	0.67	-25.1969	12.3125	0.54935	0.1359:0.0:0.8641:0.0	.	330	Q8NE00	TM104_HUMAN	L	330	ENSP00000334849:R330L	ENSP00000334849:R330L	R	+	2	0	TMEM104	70343919	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.301000	0.51842	2.626000	0.88956	0.556000	0.70494	CGC		0.622	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		T	72832324	G	T	72832324	3	4	196	1	0	0	0	0	1	0	0	0	16023	1087	38	4	1023	4	TMEM104	17	72832324	Missense_Mutation	SNP	G	TCGA-B0-5113-01A-01D-1421-08	27981228	72832324	8362886	30	12090											
CYTH1	9267	broad.mit.edu;ucsc.edu	37	17	76677108	76677108	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr17:76677108C>A	ENST00000446868.3	-	12	978	c.908G>T	c.(907-909)gGa>gTa	p.G303V	CYTH1_ENST00000585509.1_Missense_Mutation_p.G244V|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Missense_Mutation_p.G302V|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000361101.4_Missense_Mutation_p.G303V|CYTH1_ENST00000589297.1_Missense_Mutation_p.G244V			Q15438	CYH1_HUMAN	cytohesin 1	303	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.G303V(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGGGATGATTCCACGGGGCTC	0.468																																																1	Substitution - Missense(1)	kidney(1)											99	103	102					17																	76677108		2203	4300	6503	SO:0001583	missense	9267			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.908G>T	17.37:g.76677108C>A	ENSP00000389095:p.Gly303Val		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37		.	.	.	.	.	.	.	.	.	.	C	25.2	4.608780	0.87258	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.77489	-1.1;-1.1	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95046	0.8182	10	0.62326	D	0.03	.	17.6968	0.88283	0.0:1.0:0.0:0.0	.	302	Q15438-2	.	V	303;303;244;244;302;140	ENSP00000389095:G303V;ENSP00000354398:G303V	ENSP00000262763:G302V	G	-	2	0	CYTH1	74188703	1.000000	0.71417	0.806000	0.32338	0.980000	0.70556	7.667000	0.83888	2.265000	0.75225	0.467000	0.42956	GGA		0.468	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		A	76677108	C	A	76677108	3	1	196	1	0	0	0	0	1	0	0	0	4205	855	30	4	300	4	CYTH1	17	76677108	Missense_Mutation	SNP	C	TCGA-B0-5113-01A-01D-1421-08	3844784	76677108	4518102	31	12091											
TUBB4	10382	broad.mit.edu;hgsc.bcm.edu	37	19	6501365	6501365	+	Silent	SNP	G	G	A	rs557747150		TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr19:6501365G>A	ENST00000264071.2	-	3	581	c.210C>T	c.(208-210)ccC>ccT	p.P70P	TUBB4A_ENST00000540257.1_Silent_p.P70P|TUBB4A_ENST00000596926.1_Silent_p.P70P|TUBB4A_ENST00000601152.1_Missense_Mutation_p.P45L|TUBB4A_ENST00000598006.1_Missense_Mutation_p.P56L			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	70					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.P70P(1)									CCATGGTGCCGGGTTCCAGGT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18932	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											50	48	49					19																	6501365		2203	4300	6503	SO:0001819	synonymous_variant	0			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.210C>T	19.37:g.6501365G>A			B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	CCDS12168.1																																																																																				0.617	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		A	6501365	G	A	6501365	2	1	196	1	0	0	0	0	0	0	0	1	16763	1103	39	1		1	TUBB4	19	6501365	Silent	SNP	G	TCGA-B0-5113-01A-01D-1421-08		6501365	52627618	32	12092											
PRR12	57479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50118189	50118189	+	Silent	SNP	C	C	T			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr19:50118189C>T	ENST00000418929.2	+	8	4959	c.4947C>T	c.(4945-4947)ttC>ttT	p.F1649F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	828							DNA binding (GO:0003677)	p.F829F(1)|p.F1649F(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ATGTAAAGTTCCTGGAAAATG	0.512																																																2	Substitution - coding silent(2)	kidney(2)											73	72	72					19																	50118189		1890	4108	5998	SO:0001819	synonymous_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4947C>T	19.37:g.50118189C>T			E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	CCDS46143.1																																																																																				0.512	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		T	50118189	C	T	50118189	2	4	196	1	0	0	0	0	0	0	0	1	12589	854	30	2		2	PRR12	19	50118189	Silent	SNP	C	TCGA-B0-5113-01A-01D-1421-08	43616824	50118189	9010794	33	12093											
C20orf103	24141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	9496942	9496942	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr20:9496942A>G	ENST00000246070.2	+	4	901	c.409A>G	c.(409-411)Agg>Ggg	p.R137G	RP5-1119D9.4_ENST00000443469.1_RNA|LAMP5_ENST00000427562.2_Missense_Mutation_p.R93G	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	137						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.R137G(1)									GGCGACTTGGAGGCTGAGCAA	0.582																																																1	Substitution - Missense(1)	kidney(1)											98	89	92					20																	9496942		2203	4300	6503	SO:0001583	missense	0			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"brain and dendritic cell associated LAMP"	614641	"chromosome 20 open reading frame 103"	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.409A>G	20.37:g.9496942A>G	ENSP00000246070:p.Arg137Gly		B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601091	0.46423	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.32988	1.43;1.43	5.98	4.88	0.63580	.	0.234407	0.52532	D	0.000070	T	0.17408	0.0418	N	0.14661	0.345	0.44956	D	0.997972	B;B	0.29136	0.01;0.234	B;B	0.26969	0.033;0.075	T	0.07177	-1.0786	9	.	.	.	-7.3705	11.4518	0.50158	0.8492:0.1508:0.0:0.0	.	93;137	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	G	137;93	ENSP00000246070:R137G;ENSP00000406360:R93G	.	R	+	1	2	C20orf103	9444942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.590000	0.74085	1.076000	0.40961	0.482000	0.46254	AGG		0.582	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		G	9496942	A	G	9496942	3	3	196	1	0	0	0	0	1	0	0	0	2077	295	11	3	423	3	C20orf103	20	9496942	Missense_Mutation	SNP	A	TCGA-B0-5113-01A-01D-1421-08		9496942	53528578	34	12094											
FAM83C	128876	broad.mit.edu;hgsc.bcm.edu	37	20	33875579	33875579	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr20:33875579C>T	ENST00000374408.3	-	4	1099	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	335								p.V335I(1)|p.V335F(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGCTTGGGACATCAGGCCTG	0.667																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											103	83	90					20																	33875579		2203	4300	6503	SO:0001583	missense	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1003G>A	20.37:g.33875579C>T	ENSP00000363529:p.Val335Ile		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.365599	0.00212	.	.	ENSG00000125998	ENST00000374408	T	0.06687	3.27	4.53	-4.06	0.03986	.	1.148530	0.06725	N	0.775559	T	0.02727	0.0082	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47674	-0.9099	10	0.09843	T	0.71	-4.7306	7.0441	0.25037	0.0:0.4394:0.1348:0.4259	.	335	Q9BQN1	FA83C_HUMAN	I	335	ENSP00000363529:V335I	ENSP00000363529:V335I	V	-	1	0	FAM83C	33338993	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.120000	0.15647	-0.488000	0.06726	-0.340000	0.08031	GTC		0.667	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			T	33875579	C	T	33875579	3	4	196	1	0	0	0	0	1	0	0	0	5637	478	17	2	1244	2	FAM83C	20	33875579	Missense_Mutation	SNP	C	TCGA-B0-5113-01A-01D-1421-08	24378637	33875579	29149941	35	12095											
CACNG2	10369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	36960524	36960524	+	Silent	SNP	G	G	A			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr22:36960524G>A	ENST00000300105.6	-	4	1827	c.846C>T	c.(844-846)acC>acT	p.T282T	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	282					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.T282T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGTGGGCGTGGTGGCGGCCT	0.607																																																1	Substitution - coding silent(1)	kidney(1)											66	64	65					22																	36960524		2203	4300	6503	SO:0001819	synonymous_variant	10369			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.846C>T	22.37:g.36960524G>A			Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	CCDS13931.1																																																																																				0.607	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			A	36960524	G	A	36960524	2	1	196	1	0	0	0	0	0	0	0	1	2559	1335	47	2		2	CACNG2	22	36960524	Silent	SNP	G	TCGA-B0-5113-01A-01D-1421-08		36960524	14344042	36	12096											
ELFN2	114794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	37770000	37770000	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chr22:37770000C>G	ENST00000402918.2	-	3	2360	c.1575G>C	c.(1573-1575)gaG>gaC	p.E525D	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	525					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.E525D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCTGGCCGTTCTCGAGGTCCG	0.602																																																1	Substitution - Missense(1)	kidney(1)											70	70	70					22																	37770000		2203	4300	6503	SO:0001583	missense	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1575G>C	22.37:g.37770000C>G	ENSP00000385277:p.Glu525Asp		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.454188	0.01071	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.29917	1.55;1.55	4.79	1.25	0.21368	.	0.165305	0.51477	D	0.000083	T	0.05868	0.0153	N	0.00392	-1.555	0.30131	N	0.804813	B	0.06786	0.001	B	0.04013	0.001	T	0.28776	-1.0033	10	0.11794	T	0.64	-32.2327	3.528	0.07766	0.1328:0.4055:0.3604:0.1013	.	525	Q5R3F8	PPR29_HUMAN	D	525	ENSP00000300147:E525D;ENSP00000385277:E525D	ENSP00000300147:E525D	E	-	3	2	ELFN2	36099946	1.000000	0.71417	0.999000	0.59377	0.179000	0.23085	0.688000	0.25422	0.969000	0.38237	0.511000	0.50034	GAG		0.602	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		G	37770000	C	G	37770000	3	3	196	1	0	0	0	0	1	0	0	0	5060	912	32	4	891	4	ELFN2	22	37770000	Missense_Mutation	SNP	C	TCGA-B0-5113-01A-01D-1421-08	809476	37770000	13534566	37	12097											
GABRQ	55879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151815617	151815617	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5113-01A-01D-1421-08	TCGA-B0-5113-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64b234e0-74f6-453f-b5cb-280e01fba09b	f7b96180-6131-45d9-8a88-771bc7296cde	g.chrX:151815617G>C	ENST00000370306.2	+	4	535	c.515G>C	c.(514-516)cGg>cCg	p.R172P		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	172					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.R172P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGAACGGTGCGGTACGGCATC	0.517																																																1	Substitution - Missense(1)	kidney(1)											150	109	123					X																	151815617		2203	4300	6503	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.515G>C	X.37:g.151815617G>C	ENSP00000359329:p.Arg172Pro		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	9.661	1.144021	0.21205	.	.	ENSG00000147402	ENST00000370306	T	0.78126	-1.15	5.19	-4.81	0.03180	Neurotransmitter-gated ion-channel ligand-binding (3);	0.882556	0.09422	N	0.804240	T	0.74688	0.3749	L	0.52573	1.65	0.19300	N	0.999977	P	0.42941	0.794	P	0.50109	0.631	T	0.69289	-0.5184	10	0.66056	D	0.02	.	6.8973	0.24262	0.6136:0.0:0.1978:0.1886	.	172	Q9UN88	GBRT_HUMAN	P	172	ENSP00000359329:R172P	ENSP00000359329:R172P	R	+	2	0	GABRQ	151566273	0.222000	0.23652	0.005000	0.12908	0.006000	0.05464	1.825000	0.39081	-1.042000	0.03262	-0.269000	0.10298	CGG		0.517	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		C	151815617	G	C	151815617	3	2	196	1	0	0	0	0	1	0	0	0	6177	1116	39	4	529	4	GABRQ	23	151815617	Missense_Mutation	SNP	G	TCGA-B0-5113-01A-01D-1421-08		151815617	3454943	38	12098											
MACF1	23499	broad.mit.edu;hgsc.bcm.edu	37	1	39788664	39788664	+	Missense_Mutation	SNP	G	G	A	rs148253091		TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr1:39788664G>A	ENST00000372915.3	+	32	4322	c.4235G>A	c.(4234-4236)cGt>cAt	p.R1412H	MACF1_ENST00000317713.7_Missense_Mutation_p.R1412H|MACF1_ENST00000567887.1_Missense_Mutation_p.R1444H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.R1412H|MACF1_ENST00000564288.1_Missense_Mutation_p.R1407H|MACF1_ENST00000539005.1_Missense_Mutation_p.R1412H|MACF1_ENST00000361689.2_Missense_Mutation_p.R1412H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1412					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R1412H(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCACTCCGGCGTCTGGAGGAG	0.488													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19724	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	HIS/ARG	0,4406		0,0,2203	110	108	109		4235	5.9	1	1	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MACF1	NM_012090.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1412/5431	39788664	1,13005	2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4235G>A	1.37:g.39788664G>A	ENSP00000362006:p.Arg1412His		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.423960	0.96111	0.0	1.16E-4	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;T;T	0.65178	-0.11;-0.09;-0.11;-0.14;0.05;1.79;1.79	5.9	5.9	0.94986	.	.	.	.	.	T	0.80171	0.4574	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;P	0.91635	0.999;0.938;0.888	T	0.80158	-0.1499	9	0.66056	D	0.02	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	1412;1412;1377	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	H	1412;1412;1412;1412;1412;1370;1561	ENSP00000439537:R1412H;ENSP00000362006:R1412H;ENSP00000354573:R1412H;ENSP00000313438:R1412H;ENSP00000444364:R1412H;ENSP00000435070:R1370H;ENSP00000437059:R1561H	ENSP00000313438:R1412H	R	+	2	0	MACF1	39561251	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.776000	0.99001	2.793000	0.96121	0.591000	0.81541	CGT		0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39788664	G	A	39788664	3	1	197	1	0	0	0	0	1	0	0	0	9146	1145	40	1	4361	1	MACF1	1	39788664	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08		39788664	209461957	1	12099											
C1orf104	23623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155290610	155290610	+	5'Flank	SNP	T	T	A			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr1:155290610T>A	ENST00000368352.5	+	0	0				RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAAAAGACGCTAAACGCTGGG	0.637																																																0													32	36	35					1																	155290610		1974	4158	6132	SO:0001631	upstream_gene_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910		1.37:g.155290610T>A	Exception_encountered		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																				0.637	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			A	155290610	T	A	155290610	1	1	197	0	1	0	0	0	0	0	0	0	1980	1522	53	5		5	C1orf104	1	155290610	5'Flank	SNP	T	TCGA-B0-5115-01A-01D-1421-08	115501946	155290610	93960011	2	12100											
ACTN2	88	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	236891015	236891015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr1:236891015C>T	ENST00000366578.4	+	6	740	c.574C>T	c.(574-576)Cga>Tga	p.R192*	ACTN2_ENST00000542672.1_Nonsense_Mutation_p.R192*|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	192	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.R192*(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTCATCCACCGACACCGGCC	0.547																																																1	Substitution - Nonsense(1)	kidney(1)											174	142	153					1																	236891015		2203	4300	6503	SO:0001587	stop_gained	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.574C>T	1.37:g.236891015C>T	ENSP00000355537:p.Arg192*		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Nonsense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	39	7.488167	0.98316	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	.	.	.	5.2	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0964	0.53757	0.8494:0.1506:0.0:0.0	.	.	.	.	X	192	.	ENSP00000355537:R192X	R	+	1	2	ACTN2	234957638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.691000	0.54720	0.817000	0.34445	-0.521000	0.04368	CGA		0.547	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		T	236891015	C	T	236891015	4	4	197	1	0	0	0	0	0	1	0	0	205	644	23	1	596	1	ACTN2	1	236891015	Nonsense_Mutation	SNP	C	TCGA-B0-5115-01A-01D-1421-08	81600405	236891015	12359606	3	12101											
LRP2	4036	broad.mit.edu;hgsc.bcm.edu	37	2	170177379	170177379	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr2:170177379T>C	ENST00000263816.3	-	2	380	c.95A>G	c.(94-96)cAt>cGt	p.H32R	LRP2_ENST00000443831.1_Missense_Mutation_p.H32R	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	32	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.H32R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACAGCGAAAATGCGCACTGTC	0.393																																																1	Substitution - Missense(1)	kidney(1)											115	98	104					2																	170177379		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.95A>G	2.37:g.170177379T>C	ENSP00000263816:p.His32Arg		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	6.143	0.394610	0.11638	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95272	-3.66;-3.66	5.68	1.89	0.25635	.	1.041740	0.07443	N	0.897600	D	0.87116	0.6097	N	0.16790	0.44	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.003	T	0.73557	-0.3945	9	.	.	.	.	4.644	0.12563	0.1291:0.2078:0.0:0.6631	.	32;32	E9PC35;P98164	.;LRP2_HUMAN	R	32	ENSP00000263816:H32R;ENSP00000409813:H32R	.	H	-	2	0	LRP2	169885625	0.402000	0.25311	0.001000	0.08648	0.028000	0.11728	2.741000	0.47426	0.075000	0.16796	-0.250000	0.11733	CAT		0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170177379	T	C	170177379	3	2	197	1	0	0	0	0	1	0	0	0	8958	1464	51	3	14184	3	LRP2	2	170177379	Missense_Mutation	SNP	T	TCGA-B0-5115-01A-01D-1421-08		170177379	73021994	4	12102											
TMEFF2	23671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	192818523	192818523	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr2:192818523C>G	ENST00000272771.5	-	9	2094	c.910G>C	c.(910-912)Gac>Cac	p.D304H	AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000392314.1_Missense_Mutation_p.D304H|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	304	Required for shedding.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.D304H(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACACTGTAGTCCTTTTTTTCA	0.403																																					Pancreas(50;1277 1381 28487 47072)											1	Substitution - Missense(1)	kidney(1)											114	99	104					2																	192818523		2203	4300	6503	SO:0001583	missense	23671			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.910G>C	2.37:g.192818523C>G	ENSP00000272771:p.Asp304His		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156646	0.94686	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.44881	0.91;0.91	5.86	5.86	0.93980	.	0.152247	0.64402	D	0.000018	T	0.68696	0.3029	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.71159	-0.4674	10	0.87932	D	0	-20.9761	20.1986	0.98248	0.0:1.0:0.0:0.0	.	304	Q9UIK5	TEFF2_HUMAN	H	304	ENSP00000376128:D304H;ENSP00000272771:D304H	ENSP00000272771:D304H	D	-	1	0	TMEFF2	192526768	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.436000	0.80404	2.781000	0.95711	0.650000	0.86243	GAC		0.403	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		G	192818523	C	G	192818523	3	3	197	1	0	0	0	0	1	0	0	0	16019	855	30	4	222	4	TMEFF2	2	192818523	Missense_Mutation	SNP	C	TCGA-B0-5115-01A-01D-1421-08	22641144	192818523	50380850	5	12103											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188227	10188227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr3:10188227delA	ENST00000256474.2	+	2	1210	c.370delA	c.(370-372)acafs	p.T124fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	124	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.T124fs*35(3)|p.H125fs*6(2)|p.T124_H125>H(1)|p.T124fs*10(1)|p.R120fs*34(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGATGCAGGGACACACGATGG	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Deletion - Frameshift(6)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(8)											195	180	185					3																	10188227		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.370delA	3.37:g.10188227delA	ENSP00000256474:p.Thr124fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188227	A	-	10188227	7	5	197	1	0	1	0	1	0	0	0	0	17167	275	10	0	376	0	VHL	3	10188227	Frame_Shift_Del	DEL	A	TCGA-B0-5115-01A-01D-1421-08		10188227	187834203	6	12104											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52662984	52662984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr3:52662984C>A	ENST00000296302.7	-	12	1370	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E457*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E425*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E457*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E457*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E457*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E457*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E457*			Q86U86	PB1_HUMAN	polybromo 1	457	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E457*(2)|p.E425*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTGGCATTTTCAAACATTAAA	0.333			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											104	94	97					3																	52662984		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1369G>T	3.37:g.52662984C>A	ENSP00000296302:p.Glu457*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	38	6.970254	0.97971	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-42.765	19.1736	0.93590	0.0:1.0:0.0:0.0	.	.	.	.	X	425;457;457;457;457;457;457;457;457;401	.	ENSP00000296302:E457X	E	-	1	0	PBRM1	52638024	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.539000	0.85634	0.563000	0.77884	GAA		0.333	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52662984	C	A	52662984	4	1	197	1	0	0	0	0	0	1	0	0	11493	835	29	4	3607	4	PBRM1	3	52662984	Nonsense_Mutation	SNP	C	TCGA-B0-5115-01A-01D-1421-08	42474757	52662984	145359446	7	12105											
OR5K2	402135	hgsc.bcm.edu	37	3	98216592	98216592	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr3:98216592delT	ENST00000427338.1	+	1	145	c.68delT	c.(67-69)ctgfs	p.L23fs		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CACCCTGAGCTGAAGACTCTG	0.413																																																0													100	100	100					3																	98216592		2203	4297	6500	SO:0001589	frameshift_variant	402135			AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"GPCR / Class A : Olfactory receptors"	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.68delT	3.37:g.98216592delT	ENSP00000393889:p.Leu23fs		B2RN70|Q6IF47	Frame_Shift_Del	DEL	ENST00000427338.1	37	CCDS33804.1																																																																																				0.413	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			-	98216592	T	-	98216592	7	5	197	1	0	1	0	1	0	0	0	0	11169	1580	55	0	70	0	OR5K2	3	98216592	Frame_Shift_Del	DEL	T	TCGA-B0-5115-01A-01D-1421-08	45553608	98216592	99805838	8	12106											
STXBP5L	9515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121097679	121097679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr3:121097679C>T	ENST00000273666.6	+	22	2636	c.2365C>T	c.(2365-2367)Cga>Tga	p.R789*	STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R765*|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R789*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R765*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	789					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R789*(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACCACCATTTCGAAAGGCCCA	0.403																																																1	Substitution - Nonsense(1)	kidney(1)											54	51	52					3																	121097679		1849	4101	5950	SO:0001587	stop_gained	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2365C>T	3.37:g.121097679C>T	ENSP00000273666:p.Arg789*		Q4G1B4|Q6PIC3	Nonsense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	38	6.895893	0.97916	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	.	.	.	5.07	4.16	0.48862	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-9.7102	12.5014	0.55957	0.3298:0.6702:0.0:0.0	.	.	.	.	X	789;765;765;789	.	ENSP00000273666:R789X	R	+	1	2	STXBP5L	122580369	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.664000	0.54525	1.200000	0.43188	0.585000	0.79938	CGA		0.403	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			T	121097679	C	T	121097679	4	4	197	1	0	0	0	0	0	1	0	0	15362	876	31	1	2447	1	STXBP5L	3	121097679	Nonsense_Mutation	SNP	C	TCGA-B0-5115-01A-01D-1421-08	22881087	121097679	76924751	9	12107											
TTC14	151613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	180322346	180322347	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr3:180322346_180322347GG>CT	ENST00000296015.4	+	5	784_785	c.652_653GG>CT	c.(652-654)GGt>CTt	p.G218L	TTC14_ENST00000412756.2_Missense_Mutation_p.G218L|RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000382584.4_Missense_Mutation_p.G218L	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	218							RNA binding (GO:0003723)	p.G218R(1)|p.G218V(1)|p.G218>?(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACACCTATCTGGTATTAAATTA	0.342																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	151613			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	Exception_encountered	3.37:g.180322346_180322347delinsCT	ENSP00000296015:p.Gly218Leu		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	CCDS3237.1																																																																																				0.342	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		CT	180322347	GG	CT	180322346	3	2	197	1	0	0	0	0	1	0	0	0	16686	1348	47	4	670	4	TTC14	3	180322346	Missense_Mutation	DNP	GG	TCGA-B0-5115-01A-01D-1421-08	59224667	180322346	17700084	10	12108											
MXD4	10608	broad.mit.edu;hgsc.bcm.edu	37	4	2254186	2254186	+	Silent	SNP	G	G	A			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr4:2254186G>A	ENST00000337190.2	-	4	571	c.258C>T	c.(256-258)agC>agT	p.S86S	MIR4800_ENST00000537353.2_RNA|MXD4_ENST00000515378.1_5'Flank	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	86	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)	p.S86S(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGTGGCGGGTGCTGTCGGGGC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											90	87	88					4																	2254186		2203	4300	6503	SO:0001819	synonymous_variant	10608				CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.258C>T	4.37:g.2254186G>A			A2A335|Q5TZX4	Silent	SNP	ENST00000337190.2	37	CCDS3361.1																																																																																				0.627	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	NM_006454		A	2254186	G	A	2254186	2	1	197	1	0	0	0	0	0	0	0	1	10003	1310	46	2		2	MXD4	4	2254186	Silent	SNP	G	TCGA-B0-5115-01A-01D-1421-08		2254186	188900090	11	12109											
TET2	54790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	106157368	106157368	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr4:106157368C>G	ENST00000540549.1	+	3	3129	c.2269C>G	c.(2269-2271)Ctc>Gtc	p.L757V	TET2_ENST00000380013.4_Missense_Mutation_p.L757V|TET2_ENST00000305737.2_Missense_Mutation_p.L757V|TET2_ENST00000513237.1_Missense_Mutation_p.L778V|TET2_ENST00000394764.1_Missense_Mutation_p.L757V|TET2_ENST00000413648.2_Missense_Mutation_p.L757V|TET2_ENST00000545826.1_Missense_Mutation_p.L757V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	757	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L757V(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGAGGAAATACTCCAGACTTT	0.398			"Mis N, F"		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	2	Substitution - Missense(2)	kidney(2)											64	67	66					4																	106157368		2203	4300	6503	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2269C>G	4.37:g.106157368C>G	ENSP00000442788:p.Leu757Val		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	3.466	-0.108913	0.06924	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.03889	3.77;4.44;3.77;4.44;4.44;3.77;3.78	5.91	0.804	0.18697	.	.	.	.	.	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	B;B;B	0.21147	0.018;0.018;0.052	B;B;B	0.18561	0.01;0.01;0.022	T	0.48364	-0.9042	9	0.10377	T	0.69	.	2.0139	0.03493	0.198:0.4475:0.1765:0.178	.	778;757;757	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	V	757;757;757;778;757;757;757	ENSP00000306705:L757V;ENSP00000442788:L757V;ENSP00000442867:L757V;ENSP00000425443:L778V;ENSP00000369351:L757V;ENSP00000378245:L757V;ENSP00000391448:L757V	ENSP00000265149:L757V	L	+	1	0	TET2	106376817	0.147000	0.22687	0.540000	0.28089	0.307000	0.27823	0.143000	0.16115	0.399000	0.25367	0.655000	0.94253	CTC		0.398	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		G	106157368	C	G	106157368	3	3	197	1	0	0	0	0	1	0	0	0	15775	565	20	4	2271	4	TET2	4	106157368	Missense_Mutation	SNP	C	TCGA-B0-5115-01A-01D-1421-08	103903182	106157368	84996908	12	12110											
ALPK1	80216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	113360933	113360933	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr4:113360933T>C	ENST00000458497.1	+	14	3722	c.3443T>C	c.(3442-3444)gTg>gCg	p.V1148A	ALPK1_ENST00000177648.9_Missense_Mutation_p.V1148A|ALPK1_ENST00000504176.2_Missense_Mutation_p.V1070A	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1148	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V1148A(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACGAAAGTGGTGAAAACAGAA	0.358																																																1	Substitution - Missense(1)	kidney(1)											84	82	83					4																	113360933		2203	4300	6503	SO:0001583	missense	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3443T>C	4.37:g.113360933T>C	ENSP00000398048:p.Val1148Ala		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.570861	0.65765	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.06371	3.31;3.31;3.31	5.05	3.82	0.43975	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.201663	0.42682	N	0.000668	T	0.21761	0.0524	M	0.76002	2.32	0.38210	D	0.940447	D;D;D	0.76494	0.983;0.999;0.998	P;D;D	0.79108	0.888;0.992;0.973	T	0.01341	-1.1380	10	0.87932	D	0	-14.0825	9.7223	0.40311	0.0:0.0902:0.0:0.9098	.	1070;1070;1148	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	A	1148;1148;1070	ENSP00000398048:V1148A;ENSP00000177648:V1148A;ENSP00000426044:V1070A	ENSP00000177648:V1148A	V	+	2	0	ALPK1	113580382	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	2.341000	0.43983	0.711000	0.32018	0.445000	0.29226	GTG		0.358	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		C	113360933	T	C	113360933	3	2	197	1	0	0	0	0	1	0	0	0	544	1696	59	3	3489	3	ALPK1	4	113360933	Missense_Mutation	SNP	T	TCGA-B0-5115-01A-01D-1421-08	7203565	113360933	77793343	13	12111											
KIAA0947	23379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	5464188	5464188	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr5:5464188A>T	ENST00000296564.7	+	13	4963	c.4741A>T	c.(4741-4743)Agt>Tgt	p.S1581C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1581					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.S1581C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACTCATCAGAGTGAAGTTGC	0.383																																																1	Substitution - Missense(1)	kidney(1)											41	40	40					5																	5464188		1838	4097	5935	SO:0001583	missense	23379																														ENST00000296564.7:c.4741A>T	5.37:g.5464188A>T	ENSP00000296564:p.Ser1581Cys		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.408085	0.62399	.	.	ENSG00000164151	ENST00000296564	T	0.10573	2.86	5.05	-0.193	0.13244	.	.	.	.	.	T	0.10852	0.0265	N	0.22421	0.69	0.09310	N	1	D	0.69078	0.997	P	0.54460	0.753	T	0.21655	-1.0239	9	0.62326	D	0.03	-2.0E-4	3.9365	0.09309	0.3879:0.2147:0.3974:0.0	.	1581	Q9Y2F5	K0947_HUMAN	C	1581	ENSP00000296564:S1581C	ENSP00000296564:S1581C	S	+	1	0	KIAA0947	5517188	0.000000	0.05858	0.000000	0.03702	0.806000	0.45545	-0.275000	0.08525	-0.009000	0.14296	0.377000	0.23210	AGT		0.383	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			T	5464188	A	T	5464188	3	4	197	1	0	0	0	0	1	0	0	0	8204	304	11	5	4791	5	KIAA0947	5	5464188	Missense_Mutation	SNP	A	TCGA-B0-5115-01A-01D-1421-08		5464188	175451072	14	12112											
CTNND2	1501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	11346669	11346676	+	Frame_Shift_Del	DEL	GGCATTCT	GGCATTCT	-	rs140702980		TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	GGCATTCT	GGCATTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr5:11346669_11346676delGGCATTCT	ENST00000304623.8	-	9	1625_1632	c.1436_1443delAGAATGCC	c.(1435-1443)cagaatgccfs	p.QNA479fs	CTNND2_ENST00000359640.2_Frame_Shift_Del_p.QNA479fs|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.QNA388fs|CTNND2_ENST00000458100.2_Frame_Shift_Del_p.QNA46fs|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.QNA142fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	479					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q479H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCCGCGGCGGCATTCTGTGGGCCGTG	0.611																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1436_1443delAGAATGCC	5.37:g.11346669_11346676delGGCATTCT	ENSP00000307134:p.Gln479fs		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Frame_Shift_Del	DEL	ENST00000304623.8	37	CCDS3881.1																																																																																				0.611	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		-	11346676	GGCATTCT	-	11346669	7	5	197	1	0	1	0	1	0	0	0	0	4022	1103	39	0	2290	0	CTNND2	5	11346669	Frame_Shift_Del	DEL	GGCATTCT	TCGA-B0-5115-01A-01D-1421-08	5882481	11346669	169568591	15	12113											
ITGA2	3673	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	52363017	52363017	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr5:52363017G>T	ENST00000296585.5	+	16	2156	c.2013G>T	c.(2011-2013)aaG>aaT	p.K671N		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	671					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.K671N(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGGTCAACAAGAATGCTCAGA	0.368																																																2	Substitution - Missense(2)	kidney(2)											98	93	95					5																	52363017		2203	4300	6503	SO:0001583	missense	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2013G>T	5.37:g.52363017G>T	ENSP00000296585:p.Lys671Asn		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393053	0.62066	.	.	ENSG00000164171	ENST00000296585	T	0.66638	-0.22	4.79	3.02	0.34903	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.74824	0.3767	L	0.60455	1.87	0.46874	D	0.999232	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.69989	-0.4995	10	0.28530	T	0.3	.	10.1544	0.42814	0.2015:0.0:0.7985:0.0	.	671;671	E7ESP4;P17301	.;ITA2_HUMAN	N	671	ENSP00000296585:K671N	ENSP00000296585:K671N	K	+	3	2	ITGA2	52398774	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.266000	0.51569	0.572000	0.29383	0.655000	0.94253	AAG		0.368	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		T	52363017	G	T	52363017	3	4	197	1	0	0	0	0	1	0	0	0	7877	933	33	4	2075	4	ITGA2	5	52363017	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08	41016348	52363017	128552243	16	12114											
TRIM36	55521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	114499350	114499350	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr5:114499350T>A	ENST00000282369.3	-	2	284	c.163A>T	c.(163-165)Aaa>Taa	p.K55*	TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_Nonsense_Mutation_p.K43*|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	55					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K55*(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTTACACATTTATGACAGATA	0.468																																																1	Substitution - Nonsense(1)	kidney(1)											141	132	135					5																	114499350		2202	4300	6502	SO:0001587	stop_gained	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.163A>T	5.37:g.114499350T>A	ENSP00000282369:p.Lys55*		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Nonsense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	T	39	7.391634	0.98255	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2521	0.73556	0.0:0.0:0.0:1.0	.	.	.	.	X	55;43;43	.	ENSP00000282369:K55X	K	-	1	0	TRIM36	114527249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.746000	0.68681	1.996000	0.58369	0.533000	0.62120	AAA		0.468	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		A	114499350	T	A	114499350	4	1	197	1	0	0	0	0	0	1	0	0	16515	1763	61	5	2059	5	TRIM36	5	114499350	Nonsense_Mutation	SNP	T	TCGA-B0-5115-01A-01D-1421-08	62136333	114499350	66415910	17	12115											
JAKMIP2	9832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	147040551	147040551	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr5:147040551G>A	ENST00000265272.5	-	3	1054	c.587C>T	c.(586-588)tCg>tTg	p.S196L	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.S154L|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.S196L	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	196						Golgi apparatus (GO:0005794)		p.S196L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGATCTTCGAGATGGCTTC	0.517																																																1	Substitution - Missense(1)	kidney(1)											152	141	145					5																	147040551		2203	4300	6503	SO:0001583	missense	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.587C>T	5.37:g.147040551G>A	ENSP00000265272:p.Ser196Leu		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017212	0.75161	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.08102	3.13;3.13;3.13	5.13	5.13	0.70059	.	0.115750	0.64402	D	0.000010	T	0.07773	0.0195	L	0.38175	1.15	0.58432	D	0.999992	P;P;P;B	0.37398	0.593;0.593;0.593;0.44	B;B;B;B	0.23018	0.043;0.043;0.043;0.043	T	0.26467	-1.0102	10	0.41790	T	0.15	.	19.4753	0.94985	0.0:0.0:1.0:0.0	.	154;196;196;196	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	L	196;196;154;196	ENSP00000421398:S196L;ENSP00000265272:S196L;ENSP00000328989:S154L	ENSP00000265272:S196L	S	-	2	0	JAKMIP2	147020744	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	6.587000	0.74071	2.777000	0.95525	0.655000	0.94253	TCG		0.517	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		A	147040551	G	A	147040551	3	1	197	1	0	0	0	0	1	0	0	0	7943	1059	37	1	1921	1	JAKMIP2	5	147040551	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08	32541201	147040551	33874709	18	12116											
SPINK5	11005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	147444913	147444913	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr5:147444913C>T	ENST00000256084.7	+	2	101	c.59C>T	c.(58-60)gCt>gTt	p.A20V	SPINK5_ENST00000398454.1_Missense_Mutation_p.A20V|SPINK5_ENST00000359874.3_Missense_Mutation_p.A20V	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	20				DAASKNEDQ -> GQCEKDSLS (in Ref. 2; CAB96877). {ECO:0000305}.	anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A20V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCAGATGCTGCCAGTAAG	0.328																																																2	Substitution - Missense(2)	kidney(2)											108	99	102					5																	147444913		1819	4079	5898	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.59C>T	5.37:g.147444913C>T	ENSP00000256084:p.Ala20Val		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749810	0.69533	.	.	ENSG00000133710	ENST00000521206;ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T;T	0.51071	0.92;0.73;0.72;0.83;0.72	5.6	3.43	0.39272	.	0.185581	0.26446	N	0.024334	T	0.37812	0.1017	L	0.33668	1.02	0.22017	N	0.999417	B;P;B;P	0.51537	0.007;0.801;0.392;0.946	B;P;B;P	0.50314	0.014;0.598;0.279;0.637	T	0.13045	-1.0524	10	0.15952	T	0.53	-9.6011	5.1561	0.15036	0.0:0.6616:0.2079:0.1305	.	20;20;20;20	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	V	20	ENSP00000430264:A20V;ENSP00000381472:A20V;ENSP00000352936:A20V;ENSP00000421519:A20V;ENSP00000256084:A20V	ENSP00000256084:A20V	A	+	2	0	SPINK5	147425106	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.531000	0.36018	1.493000	0.48517	0.655000	0.94253	GCT		0.328	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		T	147444913	C	T	147444913	3	4	197	1	0	0	0	0	1	0	0	0	15067	797	28	2	65	2	SPINK5	5	147444913	Missense_Mutation	SNP	C	TCGA-B0-5115-01A-01D-1421-08	404362	147444913	33470347	19	12117											
MED7	9443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156565914	156565914	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr5:156565914G>T	ENST00000286317.5	-	2	910	c.529C>A	c.(529-531)Cat>Aat	p.H177N	MED7_ENST00000420343.1_Missense_Mutation_p.H177N	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	177					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)	p.H177N(1)		kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTTCTGAATGAGGCAAATCA	0.398																																																1	Substitution - Missense(1)	kidney(1)											153	146	148					5																	156565914		2203	4300	6503	SO:0001583	missense	9443			AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.529C>A	5.37:g.156565914G>T	ENSP00000286317:p.His177Asn			Missense_Mutation	SNP	ENST00000286317.5	37	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	G	9.040	0.989465	0.18966	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.81	4.94	0.65067	.	0.906772	0.09689	N	0.768725	T	0.41003	0.1140	L	0.36672	1.1	0.24433	N	0.994566	B	0.22683	0.073	B	0.20577	0.03	T	0.26326	-1.0106	9	0.18710	T	0.47	-0.7444	14.804	0.69938	0.069:0.0:0.931:0.0	.	177	O43513	MED7_HUMAN	N	177	.	ENSP00000286317:H177N	H	-	1	0	MED7	156498492	1.000000	0.71417	0.062000	0.19696	0.966000	0.64601	7.355000	0.79434	1.446000	0.47643	0.655000	0.94253	CAT		0.398	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		T	156565914	G	T	156565914	3	4	197	1	0	0	0	0	1	0	0	0	9454	1290	45	4	176	4	MED7	5	156565914	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08	9121001	156565914	24349346	20	12118											
TRIM39	56658	broad.mit.edu;hgsc.bcm.edu	37	6	30308093	30308093	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr6:30308093C>T	ENST00000396547.1	+	6	1008	c.848C>T	c.(847-849)cCa>cTa	p.P283L	TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000396551.3_Intron|TRIM39_ENST00000396548.1_Intron|TRIM39_ENST00000376659.5_Intron|TRIM39_ENST00000376656.4_Missense_Mutation_p.P283L|TRIM39_ENST00000540416.1_Intron			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	283					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P283L(1)		ovary(3)	3						ACGATCTGTCCACGGGATCAT	0.453																																																1	Substitution - Missense(1)	kidney(1)											66	63	64					6																	30308093		1509	2709	4218	SO:0001583	missense	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.848C>T	6.37:g.30308093C>T	ENSP00000379796:p.Pro283Leu		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	C	9.441	1.087945	0.20390	.	.	ENSG00000204599	ENST00000376656;ENST00000545104;ENST00000396547	T;T	0.61392	0.11;0.11	5.76	0.249	0.15531	.	0.831877	0.10078	N	0.718822	T	0.10809	0.0264	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30650	-0.9971	10	0.15066	T	0.55	.	4.0199	0.09660	0.2927:0.4741:0.0:0.2332	.	283	Q9HCM9	TRI39_HUMAN	L	283	ENSP00000365844:P283L;ENSP00000379796:P283L	ENSP00000365844:P283L	P	+	2	0	TRIM39	30416072	0.000000	0.05858	0.000000	0.03702	0.250000	0.25880	-0.388000	0.07352	-0.182000	0.10602	0.655000	0.94253	CCA		0.453	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		T	30308093	C	T	30308093	3	4	197	1	0	0	0	0	1	0	0	0	16518	594	21	2	866	2	TRIM39	6	30308093	Missense_Mutation	SNP	C	TCGA-B0-5115-01A-01D-1421-08		30308093	140806974	21	12119											
MICB	4277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	31475252	31475252	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr6:31475252T>A	ENST00000252229.6	+	5	1047	c.968T>A	c.(967-969)aTt>aAt	p.I323N	MICB_ENST00000538442.1_Missense_Mutation_p.I291N|MICB_ENST00000399150.3_Missense_Mutation_p.I280N	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B									p.I323N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTTGTTATTATTATTATTCTC	0.443																																																1	Substitution - Missense(1)	kidney(1)											107	108	108					6																	31475252		1918	4127	6045	SO:0001583	missense	4277				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.968T>A	6.37:g.31475252T>A	ENSP00000252229:p.Ile323Asn			Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	-	10.66	1.411532	0.25465	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.01043	5.41;5.5;5.52	1.42	-1.97	0.07503	.	.	.	.	.	T	0.00666	0.0022	L	0.32530	0.975	0.09310	N	1	D;P;P	0.61080	0.989;0.913;0.913	P;P;P	0.56514	0.8;0.536;0.536	T	0.49725	-0.8909	9	0.87932	D	0	.	2.3702	0.04329	0.0:0.2086:0.2991:0.4923	.	291;280;323	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	N	291;280;323	ENSP00000442345:I291N;ENSP00000382103:I280N;ENSP00000252229:I323N	ENSP00000252229:I323N	I	+	2	0	MICB	31583231	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.060000	0.01392	-0.461000	0.06993	-0.973000	0.02599	ATT		0.443	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		A	31475252	T	A	31475252	3	1	197	1	0	0	0	0	1	0	0	0	9577	1493	52	5	986	5	MICB	6	31475252	Missense_Mutation	SNP	T	TCGA-B0-5115-01A-01D-1421-08	1167159	31475252	139639815	22	12120											
FKBPL	63943	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	32097079	32097079	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr6:32097079A>C	ENST00000375156.3	-	2	749	c.479T>G	c.(478-480)aTa>aGa	p.I160R	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	160					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.I160R(1)									GCATTTCTCTATGAGCTCCCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											180	189	186					6																	32097079		2203	4300	6503	SO:0001583	missense	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.479T>G	6.37:g.32097079A>C	ENSP00000364298:p.Ile160Arg		A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999278	0.35226	.	.	ENSG00000204315	ENST00000375156	D	0.82619	-1.63	5.38	2.94	0.34122	.	1.314610	0.05242	N	0.512293	T	0.53384	0.1793	N	0.14661	0.345	0.09310	N	1	B	0.29716	0.255	B	0.26517	0.07	T	0.54146	-0.8337	10	0.87932	D	0	1.2559	8.2524	0.31735	0.8349:0.0:0.1651:0.0	.	160	Q9UIM3	FKBPL_HUMAN	R	160	ENSP00000364298:I160R	ENSP00000364298:I160R	I	-	2	0	FKBPL	32205057	0.010000	0.17322	0.270000	0.24601	0.993000	0.82548	1.281000	0.33214	0.469000	0.27268	0.379000	0.24179	ATA		0.577	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			C	32097079	A	C	32097079	3	2	197	1	0	0	0	0	1	0	0	0	5918	449	16	5	574	5	FKBPL	6	32097079	Missense_Mutation	SNP	A	TCGA-B0-5115-01A-01D-1421-08	621827	32097079	139017988	23	12121											
DAXX	1616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33286892	33286892	+	Missense_Mutation	SNP	G	G	C	rs377663648		TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr6:33286892G>C	ENST00000374542.5	-	7	2249	c.2045C>G	c.(2044-2046)tCc>tGc	p.S682C	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.S682C|DAXX_ENST00000477162.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.S607C|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	682	Interaction with SPOP.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.S682C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CCTCGTGGAGGAATCAGCAAC	0.592			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	1	Substitution - Missense(1)	kidney(1)											80	85	84					6																	33286892		2203	4300	6503	SO:0001583	missense	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.2045C>G	6.37:g.33286892G>C	ENSP00000363668:p.Ser682Cys		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998850	0.54147	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	5.26	5.26	0.73747	.	0.291039	0.28241	N	0.016072	T	0.71500	0.3347	M	0.63428	1.95	0.45066	D	0.998087	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73591	-0.3934	9	0.72032	D	0.01	-14.1399	14.2357	0.65925	0.0:0.0:1.0:0.0	.	694;682	B4E1C1;Q9UER7	.;DAXX_HUMAN	C	682;682;607	.	ENSP00000266000:S682C	S	-	2	0	DAXX	33394870	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	4.219000	0.58561	2.736000	0.93811	0.643000	0.83706	TCC		0.592	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			C	33286892	G	C	33286892	3	2	197	1	0	0	0	0	1	0	0	0	4245	1174	41	4	185	4	DAXX	6	33286892	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08	1189813	33286892	137828175	24	12122											
PGC	5225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41712242	41712242	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr6:41712242A>C	ENST00000373025.3	-	3	283	c.221T>G	c.(220-222)tTt>tGt	p.F74C	PGC_ENST00000425343.2_Missense_Mutation_p.F74C	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	74					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.F74C(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GATCTCACCAAAGTAGGCAGC	0.607																																																2	Substitution - Missense(2)	kidney(2)											51	53	52					6																	41712242		2203	4300	6503	SO:0001583	missense	5225				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.221T>G	6.37:g.41712242A>C	ENSP00000362116:p.Phe74Cys		B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819538	0.32145	.	.	ENSG00000096088	ENST00000373025;ENST00000394278;ENST00000425343;ENST00000415707	T;T;T	0.59502	1.43;0.26;0.26	4.79	2.14	0.27477	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.211530	0.40818	N	0.001019	T	0.73048	0.3537	H	0.96547	3.84	0.25645	N	0.986153	D	0.89917	1.0	D	0.77004	0.989	T	0.65199	-0.6226	10	0.87932	D	0	.	8.5626	0.33520	0.4607:0.0:0.0:0.5393	.	74	P20142	PEPC_HUMAN	C	74;74;74;78	ENSP00000362116:F74C;ENSP00000405094:F74C;ENSP00000399429:F78C	ENSP00000362116:F74C	F	-	2	0	PGC	41820220	1.000000	0.71417	0.552000	0.28243	0.007000	0.05969	1.501000	0.35693	0.843000	0.35070	0.477000	0.44152	TTT		0.607	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			C	41712242	A	C	41712242	3	2	197	1	0	0	0	0	1	0	0	0	11787	14	1	5	1282	5	PGC	6	41712242	Missense_Mutation	SNP	A	TCGA-B0-5115-01A-01D-1421-08	8425350	41712242	129402825	25	12123											
IQCE	23288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	2645633	2645633	+	Splice_Site	SNP	T	T	A			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr7:2645633T>A	ENST00000402050.2	+	20	2049		c.e20+2		IQCE_ENST00000404984.1_Splice_Site|IQCE_ENST00000325979.7_Splice_Site|IQCE_ENST00000438376.2_Splice_Site	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E							mitochondrion (GO:0005739)		p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CAGGCACAGGTGAGTCAGGGT	0.697																																																1	Unknown(1)	kidney(1)											27	33	31					7																	2645633		2119	4241	6360	SO:0001630	splice_region_variant	23288			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1865+2T>A	7.37:g.2645633T>A			Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Splice_Site	SNP	ENST00000402050.2	37	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408816	0.42715	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5193	0.44910	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCE	2612159	1.000000	0.71417	0.822000	0.32727	0.440000	0.31957	3.588000	0.53964	1.805000	0.52779	0.459000	0.35465	.		0.697	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558	Intron	A	2645633	T	A	2645633	5	1	197	1	0	0	0	0	0	0	1	0	7808	1710	59	5	1945	5	IQCE	7	2645633	Splice_Site	SNP	T	TCGA-B0-5115-01A-01D-1421-08		2645633	156493030	26	12124											
RSBN1L	222194	hgsc.bcm.edu;ucsc.edu	37	7	77379172	77379172	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr7:77379172delA	ENST00000334955.8	+	3	1162	c.1135delA	c.(1135-1137)aggfs	p.R379fs	RSBN1L_ENST00000445288.1_Frame_Shift_Del_p.R109fs	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	379						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGAGATGGAGAGGTTTGCAGA	0.448																																																0													134	126	129					7																	77379172		1869	4113	5982	SO:0001589	frameshift_variant	222194			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1135delA	7.37:g.77379172delA	ENSP00000334040:p.Arg379fs		C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Frame_Shift_Del	DEL	ENST00000334955.8	37	CCDS43607.1																																																																																				0.448	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		-	77379172	A	-	77379172	7	5	197	1	0	1	0	1	0	0	0	0	13703	295	11	0	1145	0	RSBN1L	7	77379172	Frame_Shift_Del	DEL	A	TCGA-B0-5115-01A-01D-1421-08	74733539	77379172	81759491	27	12125											
ARHGEF5	7984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	144077075	144077075	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr7:144077075G>T	ENST00000056217.5	+	15	4894	c.4720G>T	c.(4720-4722)Gtc>Ttc	p.V1574F	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.V496F	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1574					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V1574F(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAACCCAGAGGTCCGTGCACA	0.572																																																1	Substitution - Missense(1)	kidney(1)											124	123	123					7																	144077075		2203	4300	6503	SO:0001583	missense	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4720G>T	7.37:g.144077075G>T	ENSP00000056217:p.Val1574Phe		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.305323|4.305323	0.81247|0.81247	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000474817|ENST00000056217;ENST00000344879;ENST00000471847	.|T;T	.|0.30981	.|1.51;1.51	5.33|5.33	4.46|4.46	0.54185|0.54185	.|.	.|0.229119	.|0.36234	.|N	.|0.002707	T|T	0.30293|0.30293	0.0760|0.0760	N|N	0.19112|0.19112	0.55|0.55	0.40832|0.40832	D|D	0.983599|0.983599	.|B;D	.|0.59767	.|0.251;0.986	.|B;P	.|0.52758	.|0.116;0.708	T|T	0.16424|0.16424	-1.0403|-1.0403	5|10	.|0.87932	.|D	.|0	-10.1297|-10.1297	11.8313|11.8313	0.52297|0.52297	0.0839:0.0:0.9161:0.0|0.0839:0.0:0.9161:0.0	.|.	.|375;1574	.|B3KQX6;Q12774	.|.;ARHG5_HUMAN	S|F	773|1574;375;496	.|ENSP00000056217:V1574F;ENSP00000418227:V496F	.|ENSP00000056217:V1574F	R|V	+|+	3|1	2|0	ARHGEF5|ARHGEF5	143708008|143708008	1.000000|1.000000	0.71417|0.71417	0.708000|0.708000	0.30435|0.30435	0.940000|0.940000	0.58332|0.58332	6.188000|6.188000	0.72045|0.72045	1.492000|1.492000	0.48499|0.48499	0.563000|0.563000	0.77884|0.77884	AGG|GTC		0.572	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		T	144077075	G	T	144077075	3	4	197	1	0	0	0	0	1	0	0	0	909	1261	44	4	4774	4	ARHGEF5	7	144077075	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08	66697903	144077075	15061588	28	12126											
SORBS3	10174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	22423910	22423910	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr8:22423910G>T	ENST00000240123.7	+	13	1386	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	SORBS3_ENST00000523740.1_3'UTR|RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000428103.1_5'UTR	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	335					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.A335S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTGGGTTCCGCCCGGTCCCT	0.647																																																1	Substitution - Missense(1)	kidney(1)											86	83	84					8																	22423910		2203	4300	6503	SO:0001583	missense	10174				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1003G>T	8.37:g.22423910G>T	ENSP00000240123:p.Ala335Ser		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	G	6.539	0.467699	0.12402	.	.	ENSG00000120896	ENST00000240123	T	0.05649	3.41	4.75	-2.2	0.06994	.	1.377390	0.04897	N	0.450671	T	0.01592	0.0051	N	0.01352	-0.895	0.33953	D	0.644649	B	0.02656	0.0	B	0.01281	0.0	T	0.49799	-0.8901	10	0.02654	T	1	-2.192	0.9328	0.01338	0.1521:0.2755:0.1632:0.4092	.	335	O60504	VINEX_HUMAN	S	335	ENSP00000240123:A335S	ENSP00000240123:A335S	A	+	1	0	SORBS3	22479855	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.087000	0.14958	-0.544000	0.06232	-0.425000	0.05940	GCC		0.647	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		T	22423910	G	T	22423910	3	4	197	1	0	0	0	0	1	0	0	0	14935	1087	38	4	1049	4	SORBS3	8	22423910	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08		22423910	123940112	29	12127											
C8orf37	157657	hgsc.bcm.edu;ucsc.edu	37	8	96275957	96275962	+	In_Frame_Del	DEL	AATAAG	AATAAG	-			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	AATAAG	AATAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr8:96275957_96275962delAATAAG	ENST00000286688.5	-	2	207_212	c.196_201delCTTATT	c.(196-201)cttattdel	p.LI66del		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	66						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					GTATTTCATTAATAAGACTGTCAAGA	0.316																																																0																																										SO:0001651	inframe_deletion	157657			AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.196_201delCTTATT	8.37:g.96275957_96275962delAATAAG	ENSP00000286688:p.Leu66_Ile67del			In_Frame_Del	DEL	ENST00000286688.5	37	CCDS6268.1																																																																																				0.316	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965		-	96275962	AATAAG	-	96275957	7	5	197	1	0	1	0	1	0	0	0	0	2425	358	13	0	442	0	C8orf37	8	96275957	In_Frame_Del	DEL	AATAAG	TCGA-B0-5115-01A-01D-1421-08	73852047	96275957	50088065	30	12128											
GPR172A	79581	hgsc.bcm.edu	37	8	145584534	145584535	+	Frame_Shift_Ins	INS	-	-	G	rs144821688		TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr8:145584534_145584535insG	ENST00000532887.1	+	5	1780_1781	c.1197_1198insG	c.(1198-1200)gggfs	p.G400fs	SLC52A2_ENST00000540505.1_Frame_Shift_Ins_p.G312fs|SLC52A2_ENST00000329994.2_Frame_Shift_Ins_p.G400fs|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000530047.1_Frame_Shift_Ins_p.G400fs|SLC52A2_ENST00000526752.1_Frame_Shift_Ins_p.R68fs|SLC52A2_ENST00000527078.1_Frame_Shift_Ins_p.G400fs|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Frame_Shift_Ins_p.G400fs			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	400					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TGCTGCATGGCGGGGGCCGGCC	0.653																																																0																																										SO:0001589	frameshift_variant	0			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1202dupG	8.37:g.145584539_145584539dupG	ENSP00000436768:p.Gly400fs		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Frame_Shift_Ins	INS	ENST00000532887.1	37	CCDS6423.1																																																																																				0.653	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		G	145584535	-	G	145584534	7	5	197	1	0	1	1	0	0	0	0	0	6671	755	27	0	1211	0	GPR172A	8	145584534	Frame_Shift_Ins	INS	-	TCGA-B0-5115-01A-01D-1421-08	49308577	145584534	779488	31	12129											
UBAP1	51271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	34241773	34241773	+	Silent	SNP	C	C	G			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr9:34241773C>G	ENST00000297661.4	+	4	985	c.750C>G	c.(748-750)tcC>tcG	p.S250S	UBAP1_ENST00000543944.1_Silent_p.S286S|UBAP1_ENST00000359544.2_Silent_p.S250S|UBAP1_ENST00000540348.1_Silent_p.S250S|UBAP1_ENST00000379186.4_Silent_p.S250S|UBAP1_ENST00000536252.1_Silent_p.S250S|UBAP1_ENST00000545103.1_Silent_p.S314S	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	250					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)	p.S314S(1)|p.S250S(1)		endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CACTGTCTTCCAAAGTGTCCC	0.468																																					NSCLC(109;1074 1634 14978 20375 39620)											2	Substitution - coding silent(2)	kidney(2)											102	89	94					9																	34241773		2203	4300	6503	SO:0001819	synonymous_variant	51271			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.750C>G	9.37:g.34241773C>G			B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Silent	SNP	ENST00000297661.4	37	CCDS6550.1																																																																																				0.468	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			G	34241773	C	G	34241773	2	3	197	1	0	0	0	0	0	0	0	1	16841	581	21	4		4	UBAP1	9	34241773	Silent	SNP	C	TCGA-B0-5115-01A-01D-1421-08		34241773	106971658	32	12130											
GBA2	57704	hgsc.bcm.edu;ucsc.edu	37	9	35738845	35738845	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr9:35738845delC	ENST00000378103.3	-	12	2374	c.1851delG	c.(1849-1851)tggfs	p.W617fs	GBA2_ENST00000378094.4_Frame_Shift_Del_p.W617fs|GBA2_ENST00000545786.1_Frame_Shift_Del_p.W623fs|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	617					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGGTCCTTCCAATCAGCAG	0.483																																																0													113	102	106					9																	35738845		2203	4300	6503	SO:0001589	frameshift_variant	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1851delG	9.37:g.35738845delC	ENSP00000367343:p.Trp617fs		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	ENST00000378103.3	37	CCDS6589.1																																																																																				0.483	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		-	35738845	C	-	35738845	7	5	197	1	0	1	0	1	0	0	0	0	6269	856	30	0	956	0	GBA2	9	35738845	Frame_Shift_Del	DEL	C	TCGA-B0-5115-01A-01D-1421-08	1497072	35738845	105474586	33	12131											
SEC16A	9919	hgsc.bcm.edu	37	9	139370955	139370963	+	In_Frame_Del	DEL	AGCTCCTGA	AGCTCCTGA	-	rs545335424	byFrequency	TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	AGCTCCTGA	AGCTCCTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr9:139370955_139370963delAGCTCCTGA	ENST00000371706.3	-	1	604_612	c.571_579delTCAGGAGCT	c.(571-579)tcaggagctdel	p.SGA191del	SEC16A_ENST00000313050.7_In_Frame_Del_p.SGA369del|SEC16A_ENST00000290037.6_In_Frame_Del_p.SGA191del|SEC16A_ENST00000431893.2_In_Frame_Del_p.SGA191del			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	191					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.S369_A371delSGA(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACATCGCCAGAGCTCCTGAAGCTCCTGAG	0.574														13	0.00259585	0.0008	0.0014	5008	,	,		18859	0.0		0.004	False		,,,				2504	0.0072															1	Deletion - In frame(1)	breast(1)								7,3561		0,7,1777						1.9	0			19	42,7812		1,40,3886	no	coding	SEC16A	NM_014866.1		1,47,5663	A1A1,A1R,RR		0.5348,0.1962,0.429				49,11373				SO:0001651	inframe_deletion	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.571_579delTCAGGAGCT	9.37:g.139370964_139370972delAGCTCCTGA	ENSP00000360771:p.Ser191_Ala193del		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	In_Frame_Del	DEL	ENST00000371706.3	37																																																																																					0.574	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		-	139370963	AGCTCCTGA	-	139370955	7	5	197	1	0	1	0	1	0	0	0	0	13992	291	11	0	6080	0	SEC16A	9	139370955	In_Frame_Del	DEL	AGCTCCTGA	TCGA-B0-5115-01A-01D-1421-08	103632110	139370955	1842476	34	12132											
ERLIN1	10613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	101923759	101923759	+	Splice_Site	SNP	A	A	G			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr10:101923759A>G	ENST00000421367.2	-	8	3363		c.e8+1		ERLIN1_ENST00000407654.3_Splice_Site	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)		p.?(1)					Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AAATCCAAGTACCTATAACTG	0.398																																																1	Unknown(1)	kidney(1)											258	224	235					10																	101923759		2201	4299	6500	SO:0001630	splice_region_variant	10613			AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"	611604	"chromosome 10 open reading frame 69", "SPFH domain family, member 1"	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.655+1T>C	10.37:g.101923759A>G			B0QZ42|Q53HV0	Splice_Site	SNP	ENST00000421367.2	37	CCDS7487.2	.	.	.	.	.	.	.	.	.	.	A	14.42	2.531323	0.45073	.	.	ENSG00000107566	ENST00000421367;ENST00000407654;ENST00000370410;ENST00000370408	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5583	0.61773	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERLIN1	101913749	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	7.535000	0.82014	2.140000	0.66376	0.460000	0.39030	.		0.398	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459	Intron	G	101923759	A	G	101923759	5	3	197	1	0	0	0	0	0	0	1	0	5234	405	14	3	405	3	ERLIN1	10	101923759	Splice_Site	SNP	A	TCGA-B0-5115-01A-01D-1421-08		101923759	33610988	35	12133											
DSCAML1	57453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117374716	117374717	+	Missense_Mutation	DNP	AC	AC	TG			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr11:117374716_117374717AC>TG	ENST00000321322.6	-	11	2383_2384	c.2382_2383GT>CA	c.(2380-2385)caGTac>caCAac	p.794_795QY>HN	DSCAML1_ENST00000527706.1_Missense_Mutation_p.524_525QY>HN	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	734	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.Q794_Y795>HN(1)|p.Q794H(1)|p.Y795N(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACAGGGTGGTACTGCTGGGGGT	0.629																																																3	Substitution - Missense(2)|Complex - compound substitution(1)	kidney(3)																																								SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2382_2383delinsTG	11.37:g.117374716_117374717delinsTG	ENSP00000315465:p.Q794_Y795delinsHN		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.629	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		TG	117374717	AC	TG	117374716	3	4	197	1	0	0	0	0	1	0	0	0	4771	391	14	5	4050	5	DSCAML1	11	117374716	Missense_Mutation	DNP	AC	TCGA-B0-5115-01A-01D-1421-08		117374716	17631800	36	12134											
PRDM10	56980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	129817095	129817095	+	Silent	SNP	C	C	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr11:129817095C>T	ENST00000360871.3	-	5	696	c.465G>A	c.(463-465)acG>acA	p.T155T	PRDM10_ENST00000526082.1_Silent_p.T69T|PRDM10_ENST00000304538.6_Silent_p.T69T|PRDM10_ENST00000358825.5_Silent_p.T155T|PRDM10_ENST00000423662.2_Silent_p.T69T|PRDM10_ENST00000528746.1_Silent_p.T129T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.T155T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CATCCAGATCCGTGTCCTCAC	0.597																																																1	Substitution - coding silent(1)	kidney(1)											292	165	208					11																	129817095		2201	4297	6498	SO:0001819	synonymous_variant	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.465G>A	11.37:g.129817095C>T			B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																				0.597	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		T	129817095	C	T	129817095	2	4	197	1	0	0	0	0	0	0	0	1	12456	639	23	1		1	PRDM10	11	129817095	Silent	SNP	C	TCGA-B0-5115-01A-01D-1421-08	12442379	129817095	5189421	37	12135											
VWF	7450	broad.mit.edu;hgsc.bcm.edu	37	12	6127588	6127588	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr12:6127588G>C	ENST00000261405.5	-	28	5250	c.4996C>G	c.(4996-4998)Ctg>Gtg	p.L1666V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1666					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.L1666V(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACCTCTGCAGCACCAGGTCA	0.642																																																1	Substitution - Missense(1)	kidney(1)											23	23	23					12																	6127588		2196	4292	6488	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4996C>G	12.37:g.6127588G>C	ENSP00000261405:p.Leu1666Val		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	10.48	1.362828	0.24684	.	.	ENSG00000110799	ENST00000261405	T	0.78003	-1.14	4.82	3.93	0.45458	von Willebrand factor, type A (1);	0.476086	0.15688	N	0.249558	D	0.84880	0.5570	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	D	0.83522	0.0086	10	0.56958	D	0.05	.	8.0835	0.30758	0.2512:0.0:0.7488:0.0	.	1666	P04275	VWF_HUMAN	V	1666	ENSP00000261405:L1666V	ENSP00000261405:L1666V	L	-	1	2	VWF	5997849	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	1.044000	0.30329	1.256000	0.44068	0.555000	0.69702	CTG		0.642	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		C	6127588	G	C	6127588	3	2	197	1	0	0	0	0	1	0	0	0	17251	962	34	4	3545	4	VWF	12	6127588	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08		6127588	127724307	38	12136											
CD163	9332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7636081	7636081	+	Silent	SNP	C	C	G			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr12:7636081C>G	ENST00000359156.4	-	12	3172	c.2970G>C	c.(2968-2970)ccG>ccC	p.P990P	CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Silent_p.P978P|CD163_ENST00000396620.3_Silent_p.P1023P|CD163_ENST00000432237.2_Silent_p.P990P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	990	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.P990P(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGAGCCATATCGGTCCAGTCC	0.522																																																1	Substitution - coding silent(1)	kidney(1)											160	130	140					12																	7636081		2203	4300	6503	SO:0001819	synonymous_variant	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2970G>C	12.37:g.7636081C>G			C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	8.254	0.809586	0.16537	.	.	ENSG00000177575	ENST00000537626	.	.	.	5.4	0.317	0.15861	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.41104	D	0.985696	.	.	.	.	.	.	T	0.44452	-0.9327	4	.	.	.	.	6.9248	0.24410	0.2947:0.1205:0.5849:0.0	.	.	.	.	P	3	.	.	R	-	2	0	CD163	7527348	0.050000	0.20438	0.630000	0.29268	0.988000	0.76386	-0.569000	0.05902	0.079000	0.16929	-0.235000	0.12190	CGA		0.522	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		G	7636081	C	G	7636081	2	3	197	1	0	0	0	0	0	0	0	1	2969	871	31	4		4	CD163	12	7636081	Silent	SNP	C	TCGA-B0-5115-01A-01D-1421-08	1508493	7636081	126215814	39	12137											
WBP11	51729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14943423	14943423	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr12:14943423G>A	ENST00000261167.2	-	10	1509	c.1276C>T	c.(1276-1278)Cca>Tca	p.P426S		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	426	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.P426S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CCTGTAGGTGGCCCAGGAGGC	0.498																																																1	Substitution - Missense(1)	kidney(1)											106	107	107					12																	14943423		2203	4300	6503	SO:0001583	missense	51729			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1276C>T	12.37:g.14943423G>A	ENSP00000261167:p.Pro426Ser		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698939	0.68501	.	.	ENSG00000084463	ENST00000261167	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.76026	0.3930	M	0.69823	2.125	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.73049	-0.4105	9	0.27082	T	0.32	-14.259	15.5207	0.75862	0.0:0.0:1.0:0.0	.	426	Q9Y2W2	WBP11_HUMAN	S	426	.	ENSP00000261167:P426S	P	-	1	0	WBP11	14834690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.087000	0.89521	2.532000	0.85374	0.655000	0.94253	CCA		0.498	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		A	14943423	G	A	14943423	3	1	197	1	0	0	0	0	1	0	0	0	17263	1203	42	2	661	2	WBP11	12	14943423	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08	7307342	14943423	118908472	40	12138											
TSPAN19	144448	broad.mit.edu	37	12	85423550	85423550	+	Frame_Shift_Del	DEL	A	A	-	rs59822389	byFrequency	TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr12:85423550delA	ENST00000532498.2	-	3	166	c.86delT	c.(85-87)atgfs	p.M29fs	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	29						integral component of membrane (GO:0016021)				ovary(1)	1						ACCAAATCCCATGAATAAAAG	0.264													A|A|-|deletion	89	0.0177716	0.0666	0.0014	5008	,	,		15507	0.0		0.0	False		,,,				2504	0.0															0										214,3136		25,164,1486	29	28	28			-1	0.5	12	dbSNP_129	29	3,7583		0,3,3790	yes	frameshift	TSPAN19	NM_001100917.1		25,167,5276	A1A1,A1R,RR		0.0395,6.3881,1.9843			85423550	217,10719	1702	3957	5659	SO:0001589	frameshift_variant	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.86delT	12.37:g.85423550delA	ENSP00000433816:p.Met29fs			Frame_Shift_Del	DEL	ENST00000532498.2	37	CCDS44949.1																																																																																				0.264	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		-	85423550	A	-	85423550	7	5	197	1	0	1	0	1	0	0	0	0	16648	217	8	0	688	0	TSPAN19	12	85423550	Frame_Shift_Del	DEL	A	TCGA-B0-5115-01A-01D-1421-08	70480127	85423550	48428345	41	12139											
SART3	9733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	108920274	108920274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr12:108920274G>A	ENST00000228284.3	-	16	2206	c.1972C>T	c.(1972-1974)Caa>Taa	p.Q658*	SART3_ENST00000431469.2_Nonsense_Mutation_p.Q622*	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	658	Required for nuclear localization.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q658*(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TCTACATTTTGTGTTTCTCCA	0.517									Porokeratosis																																							1	Substitution - Nonsense(1)	kidney(1)											91	90	90					12																	108920274		2203	4300	6503	SO:0001587	stop_gained	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1972C>T	12.37:g.108920274G>A	ENSP00000228284:p.Gln658*		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Nonsense_Mutation	SNP	ENST00000228284.3	37	CCDS9117.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.477212|6.477212	0.97598|0.97598	.|.	.|.	ENSG00000075856|ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000546815|ENST00000412617	.|.	.|.	.|.	5.33|5.33	0.996|0.996	0.19844|0.19844	.|.	0.719825|.	0.13553|.	N|.	0.379317|.	.|T	.|0.38268	.|0.1034	.|.	.|.	.|.	0.21105|0.21105	N|N	0.999784|0.999784	.|B	.|0.20671	.|0.047	.|B	.|0.21360	.|0.034	.|T	.|0.37361	.|-0.9709	.|7	0.06236|0.72032	T|D	0.91|0.01	1.2769|1.2769	11.5161|11.5161	0.50522|0.50522	0.092:0.6702:0.2377:0.0|0.092:0.6702:0.2377:0.0	.|.	.|604	.|E7EMI4	.|.	X|I	658;622;234;676|604	.|.	ENSP00000228284:Q658X|ENSP00000400292:T604I	Q|T	-|-	1|2	0|0	SART3|SART3	107444404|107444404	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.013000|0.013000	0.08279|0.08279	1.095000|1.095000	0.30964|0.30964	0.181000|0.181000	0.19994|0.19994	0.491000|0.491000	0.48974|0.48974	CAA|ACA		0.517	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			A	108920274	G	A	108920274	4	1	197	1	0	0	0	0	0	1	0	0	13853	1386	48	2	935	2	SART3	12	108920274	Nonsense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08	23496724	108920274	24931621	42	12140											
FZD10	11211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	130649146	130649146	+	Silent	SNP	C	C	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr12:130649146C>T	ENST00000229030.4	+	1	2143	c.1659C>T	c.(1657-1659)agC>agT	p.S553S	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	553					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S553S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGATCACCAGCGGTGGGATTT	0.562																																																1	Substitution - coding silent(1)	kidney(1)											32	37	35					12																	130649146		2203	4300	6503	SO:0001819	synonymous_variant	11211			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1659C>T	12.37:g.130649146C>T				Silent	SNP	ENST00000229030.4	37	CCDS9267.1																																																																																				0.562	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	130649146	C	T	130649146	2	4	197	1	0	0	0	0	0	0	0	1	6131	767	27	1		1	FZD10	12	130649146	Silent	SNP	C	TCGA-B0-5115-01A-01D-1421-08	21728872	130649146	3202749	43	12141											
SOHLH2	54937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	36776196	36776196	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr13:36776196G>T	ENST00000379881.3	-	2	171	c.83C>A	c.(82-84)aCt>aAt	p.T28N	SOHLH2_ENST00000317764.6_Missense_Mutation_p.T28N|SOHLH2_ENST00000554962.1_Missense_Mutation_p.T105N|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.T105N	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	28					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T28N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTAGCCCACAGTGACATCTCC	0.438																																																1	Substitution - Missense(1)	kidney(1)											106	81	89					13																	36776196		2203	4300	6503	SO:0001583	missense	0			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.83C>A	13.37:g.36776196G>T	ENSP00000369210:p.Thr28Asn		B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102526	0.56183	.	.	ENSG00000120669;ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000317764;ENST00000511166	T;T;T;T	0.52057	1.25;1.25;0.68;1.25	5.69	3.93	0.45458	.	0.116646	0.39274	N	0.001407	T	0.43255	0.1239	L	0.32530	0.975	0.30422	N	0.777986	D;D	0.60575	0.976;0.988	P;P	0.50934	0.654;0.654	T	0.48490	-0.9031	10	0.87932	D	0	7.7198	7.8029	0.29185	0.0864:0.1628:0.7508:0.0	.	105;28	B4DX90;Q9NX45	.;SOLH2_HUMAN	N	28;105;28;105	ENSP00000369210:T28N;ENSP00000451542:T105N;ENSP00000326838:T28N;ENSP00000421868:T105N	ENSP00000421868:T105N	T	-	2	0	CCDC169-SOHLH2;SOHLH2	35674196	0.966000	0.33281	0.660000	0.29694	0.863000	0.49368	2.175000	0.42491	0.745000	0.32763	0.655000	0.94253	ACT		0.438	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		T	36776196	G	T	36776196	3	4	197	1	0	0	0	0	1	0	0	0	14930	1029	36	4	1234	4	SOHLH2	13	36776196	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08		36776196	78393682	44	12142											
PKD1	5310	broad.mit.edu	37	16	2161786	2161786	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr16:2161786A>T	ENST00000262304.4	-	15	3590	c.3382T>A	c.(3382-3384)Tcc>Acc	p.S1128T	PKD1_ENST00000423118.1_Missense_Mutation_p.S1128T|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1128	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.|PKD 6. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.S1128T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACAGCCACGGAGGGCAGGGAG	0.672																																																1	Substitution - Missense(1)	kidney(1)											19	20	20					16																	2161786		2185	4285	6470	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3382T>A	16.37:g.2161786A>T	ENSP00000262304:p.Ser1128Thr		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	a	8.379	0.837170	0.16891	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.65732	-0.17;-0.17	5.66	-8.08	0.01094	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (3);	0.701599	0.14556	N	0.312356	T	0.32763	0.0840	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.10450	0.003;0.005	T	0.33111	-0.9881	10	0.12430	T	0.62	.	2.2063	0.03936	0.1742:0.3309:0.0987:0.3962	.	1128;1128	P98161-3;P98161	.;PKD1_HUMAN	T	1128;1128;843	ENSP00000262304:S1128T;ENSP00000399501:S1128T	ENSP00000262304:S1128T	S	-	1	0	PKD1	2101787	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.505000	0.06367	-1.131000	0.02910	-1.174000	0.01732	TCC		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			T	2161786	A	T	2161786	3	4	197	1	0	0	0	0	1	0	0	0	11965	304	11	5	9657	5	PKD1	16	2161786	Missense_Mutation	SNP	A	TCGA-B0-5115-01A-01D-1421-08		2161786	88192967	45	12143											
ZC3H7A	29066	hgsc.bcm.edu;ucsc.edu	37	16	11846601	11846602	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr16:11846601_11846602delTC	ENST00000396516.2	-	21	2846_2847	c.2649_2650delGA	c.(2647-2652)gagaagfs	p.K884fs	ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.K884fs|ZC3H7A_ENST00000575984.1_Frame_Shift_Del_p.K80fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	884						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TGGAAAACCTTCTCTTTGTGCT	0.485																																																0																																										SO:0001589	frameshift_variant	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2649_2650delGA	16.37:g.11846603_11846604delTC	ENSP00000379773:p.Lys884fs		D3DUG5|Q9NPE9	Frame_Shift_Del	DEL	ENST00000396516.2	37	CCDS10550.1																																																																																				0.485	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		-	11846602	TC	-	11846601	7	5	197	1	0	1	0	1	0	0	0	0	17577	1792	62	0	273	0	ZC3H7A	16	11846601	Frame_Shift_Del	DEL	TC	TCGA-B0-5115-01A-01D-1421-08	9684815	11846601	78508152	46	12144											
LRRC36	55282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67404969	67404969	+	Silent	SNP	C	C	T	rs558910990		TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr16:67404969C>T	ENST00000329956.6	+	9	1337	c.1318C>T	c.(1318-1320)Ctg>Ttg	p.L440L	LRRC36_ENST00000563189.1_Silent_p.L319L|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000290940.7_Silent_p.L172L|LRRC36_ENST00000435835.3_Silent_p.L319L	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	440								p.L440L(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CAACGCTGTCCTGGGAAACAG	0.478																																																1	Substitution - coding silent(1)	kidney(1)											113	101	105					16																	67404969		2198	4300	6498	SO:0001819	synonymous_variant	55282			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1318C>T	16.37:g.67404969C>T			A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Silent	SNP	ENST00000329956.6	37	CCDS32467.1																																																																																				0.478	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		T	67404969	C	T	67404969	2	4	197	1	0	0	0	0	0	0	0	1	8992	680	24	2		2	LRRC36	16	67404969	Silent	SNP	C	TCGA-B0-5115-01A-01D-1421-08	55558368	67404969	22949784	47	12145											
C16orf48	84080	broad.mit.edu;hgsc.bcm.edu	37	16	67697841	67697841	+	Splice_Site	SNP	T	T	G			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr16:67697841T>G	ENST00000243878.4	-	4	899	c.578A>C	c.(577-579)aAg>aCg	p.K193T	ENKD1_ENST00000602644.1_Splice_Site_p.K193T|C16orf86_ENST00000403458.4_5'Flank|ENKD1_ENST00000602409.1_Intron	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	193						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)		p.K193T(1)									TCCTCTCACCTTAGCTTCGGG	0.647																																																1	Substitution - Missense(1)	kidney(1)											35	38	37					16																	67697841		2196	4299	6495	SO:0001630	splice_region_variant	0			BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 48"	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.579+1A>C	16.37:g.67697841T>G			Q6UWD7	Missense_Mutation	SNP	ENST00000243878.4	37	CCDS10844.1	.	.	.	.	.	.	.	.	.	.	t	11.21	1.572465	0.28092	.	.	ENSG00000124074	ENST00000243878	.	.	.	4.76	4.76	0.60689	.	0.255453	0.45361	D	0.000369	T	0.50752	0.1634	L	0.27053	0.805	0.39591	D	0.969586	D;P	0.69078	0.997;0.949	P;P	0.60789	0.879;0.51	T	0.46721	-0.9171	9	0.20046	T	0.44	-1.537	8.9404	0.35727	0.0:0.0:0.1874:0.8126	.	193;75	Q9H0I2;Q9H0I2-2	CP048_HUMAN;.	T	193	.	ENSP00000243878:K193T	K	-	2	0	C16orf48	66255342	0.612000	0.27000	0.998000	0.56505	0.407000	0.30961	1.333000	0.33816	1.908000	0.55244	0.444000	0.29173	AAG		0.647	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140	Missense_Mutation	G	67697841	T	G	67697841	5	3	197	1	0	0	0	0	0	0	1	0	1818	1623	56	5	478	5	C16orf48	16	67697841	Splice_Site	SNP	T	TCGA-B0-5115-01A-01D-1421-08	292872	67697841	22656912	48	12146											
GLG1	2734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	74530491	74530491	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr16:74530491T>C	ENST00000422840.2	-	5	825	c.826A>G	c.(826-828)Aaa>Gaa	p.K276E	GLG1_ENST00000447066.2_Missense_Mutation_p.K265E|GLG1_ENST00000205061.5_Missense_Mutation_p.K276E	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	276					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.K276E(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTGCTTCTTTCACCAGGCCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											144	146	145					16																	74530491		2198	4300	6498	SO:0001583	missense	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.826A>G	16.37:g.74530491T>C	ENSP00000405984:p.Lys276Glu		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804135	0.50315	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.73	5.73	0.89815	.	0.106321	0.64402	D	0.000009	T	0.43986	0.1272	N	0.19112	0.55	0.58432	D	0.999997	B;B;B	0.25850	0.075;0.134;0.136	B;B;B	0.27608	0.032;0.067;0.081	T	0.33189	-0.9878	9	0.19147	T	0.46	-4.9287	16.0337	0.80603	0.0:0.0:0.0:1.0	.	276;276;265	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	E	276;265;276	.	ENSP00000205061:K276E	K	-	1	0	GLG1	73087992	0.869000	0.29996	1.000000	0.80357	0.958000	0.62258	2.652000	0.46682	2.189000	0.69895	0.528000	0.53228	AAA		0.413	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		C	74530491	T	C	74530491	3	2	197	1	0	0	0	0	1	0	0	0	6438	1792	62	3	2881	3	GLG1	16	74530491	Missense_Mutation	SNP	T	TCGA-B0-5115-01A-01D-1421-08	6832650	74530491	15824262	49	12147											
FAM64A	54478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	6348680	6348680	+	Missense_Mutation	SNP	G	G	A	rs151147808		TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr17:6348680G>A	ENST00000250056.8	+	2	333	c.250G>A	c.(250-252)Gct>Act	p.A84T	FAM64A_ENST00000572595.2_Missense_Mutation_p.A84T|FAM64A_ENST00000576056.1_Missense_Mutation_p.A84T|FAM64A_ENST00000572447.1_Missense_Mutation_p.A84T|FAM64A_ENST00000570337.2_Missense_Mutation_p.A84T|FAM64A_ENST00000571373.1_Missense_Mutation_p.A84T	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	84					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.A84T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GGGCCTCCAGGCTGCAGCTCG	0.582																																																1	Substitution - Missense(1)	kidney(1)						G	THR/ALA,THR/ALA	0,4406		0,0,2203	50	56	54		250,250	4.1	1	17	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM64A	NM_001195228.1,NM_019013.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	84/249,84/239	6348680	1,13005	2203	4300	6503	SO:0001583	missense	54478				CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"CALM interacting protein expressed in thymus and spleen"					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.250G>A	17.37:g.6348680G>A	ENSP00000250056:p.Ala84Thr		Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579138	0.65878	0.0	1.16E-4	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.52295	0.67	5.08	4.07	0.47477	.	0.567298	0.16830	N	0.197818	T	0.57621	0.2066	M	0.65975	2.015	0.29014	N	0.886698	P;P	0.49447	0.924;0.906	P;P	0.55785	0.784;0.677	T	0.51124	-0.8745	10	0.34782	T	0.22	-0.8349	10.8709	0.46883	0.0:0.0:0.8134:0.1866	.	84;84	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	T	84	ENSP00000250056:A84T	ENSP00000250056:A84T	A	+	1	0	FAM64A	6289404	0.990000	0.36364	1.000000	0.80357	0.274000	0.26718	2.029000	0.41098	2.652000	0.90054	0.655000	0.94253	GCT		0.582	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		A	6348680	G	A	6348680	3	1	197	1	0	0	0	0	1	0	0	0	5600	1203	42	2	252	2	FAM64A	17	6348680	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08		6348680	74846530	50	12148											
SMAD2	4087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr18:45368211G>T	ENST00000402690.2	-	11	1785	c.1391C>A	c.(1390-1392)tCa>tAa	p.S464*	SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	464	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.S464*(4)|p.R462fs*>4(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TGACATGCTTGAGCAACGCAC	0.423																																																5	Substitution - Nonsense(4)|Deletion - Frameshift(1)	large_intestine(4)|kidney(1)											162	130	141					18																	45368211		2203	4300	6503	SO:0001587	stop_gained	4087			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"SMADs"	6768	protein-coding gene	gene with protein product		601366	"MAD, mothers against decapentaplegic homolog 2 (Drosophila)", "SMAD, mothers against DPP homolog 2 (Drosophila)"	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1391C>A	18.37:g.45368211G>T	ENSP00000384449:p.Ser464*			Nonsense_Mutation	SNP	ENST00000402690.2	37	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	41	8.784024	0.98952	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	464;434;464	.	ENSP00000262160:S464X	S	-	2	0	SMAD2	43622209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.824000	0.97209	0.655000	0.94253	TCA		0.423	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		T	45368211	G	T	45368211	4	4	197	1	0	0	0	0	0	1	0	0	14764	1294	45	4	16	4	SMAD2	18	45368211	Nonsense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08		45368211	32709037	51	12149											
CCDC68	80323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	52575020	52575020	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr18:52575020G>A	ENST00000591504.1	-	11	1221	c.947C>T	c.(946-948)aCa>aTa	p.T316I	CCDC68_ENST00000432185.1_Missense_Mutation_p.T316I|CCDC68_ENST00000337363.4_Missense_Mutation_p.T316I	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	316								p.T316I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ACCTTACCTTGTAGAGACAGC	0.403																																																1	Substitution - Missense(1)	kidney(1)											201	181	188					18																	52575020		2203	4300	6503	SO:0001583	missense	80323				CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma associated antigen"					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.947C>T	18.37:g.52575020G>A	ENSP00000466690:p.Thr316Ile		B2R9I3	Missense_Mutation	SNP	ENST00000591504.1	37	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912024	0.72983	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.24350	1.86;1.86	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000023	T	0.34483	0.0899	L	0.29908	0.895	0.37416	D	0.913432	D	0.69078	0.997	D	0.63033	0.91	T	0.07214	-1.0784	10	0.20519	T	0.43	.	15.2545	0.73573	0.0:0.0:1.0:0.0	.	316	Q9H2F9	CCD68_HUMAN	I	316	ENSP00000337209:T316I;ENSP00000413406:T316I	ENSP00000337209:T316I	T	-	2	0	CCDC68	50726018	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.270000	0.58896	2.733000	0.93635	0.650000	0.86243	ACA		0.403	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214		A	52575020	G	A	52575020	3	1	197	1	0	0	0	0	1	0	0	0	2842	1377	48	2	68	2	CCDC68	18	52575020	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08	7206809	52575020	25502228	52	12150											
HMHA1	23526	broad.mit.edu;ucsc.edu	37	19	1074667	1074667	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr19:1074667T>A	ENST00000313093.2	+	9	1279	c.1048T>A	c.(1048-1050)Ttc>Atc	p.F350I	HMHA1_ENST00000590214.1_Missense_Mutation_p.F377I|HMHA1_ENST00000539243.2_Missense_Mutation_p.F366I|HMHA1_ENST00000586866.1_Missense_Mutation_p.F354I|HMHA1_ENST00000590577.1_5'Flank|HMHA1_ENST00000536472.1_Missense_Mutation_p.F190I|HMHA1_ENST00000543365.1_Missense_Mutation_p.F233I	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	350					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.F350I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCTGGAGTTCGGCCACAG	0.701																																																1	Substitution - Missense(1)	kidney(1)											20	24	23					19																	1074667		2199	4296	6495	SO:0001583	missense	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1048T>A	19.37:g.1074667T>A	ENSP00000316772:p.Phe350Ile		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286350	0.40494	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	4.63	3.61	0.41365	Fps/Fes/Fer/CIP4 homology (1);	0.447401	0.23854	N	0.043903	T	0.37571	0.1008	L	0.59436	1.845	0.29760	N	0.835614	P;P;P;P	0.47302	0.646;0.893;0.589;0.704	B;B;B;B	0.44085	0.44;0.396;0.361;0.223	T	0.26849	-1.0091	10	0.22706	T	0.39	-3.7191	7.1213	0.25446	0.0:0.2667:0.0:0.7333	.	190;366;233;350	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	I	366;350;350;190;344;233	ENSP00000439601:F366I;ENSP00000316772:F350I;ENSP00000445109:F190I;ENSP00000438979:F233I	ENSP00000316772:F350I	F	+	1	0	HMHA1	1025667	1.000000	0.71417	0.646000	0.29493	0.834000	0.47266	1.407000	0.34657	0.647000	0.30713	0.454000	0.30748	TTC		0.701	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			A	1074667	T	A	1074667	3	1	197	1	0	0	0	0	1	0	0	0	7242	1725	60	5	1082	5	HMHA1	19	1074667	Missense_Mutation	SNP	T	TCGA-B0-5115-01A-01D-1421-08		1074667	58054316	53	12151											
ZNF20	7568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12243969	12243969	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr19:12243969A>T	ENST00000334213.5	-	4	1256	c.1032T>A	c.(1030-1032)tgT>tgA	p.C344*	ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C391*(1)|p.C344*(1)		endometrium(1)|kidney(1)|lung(6)	8						AGGCTTTACCACATTGCCTAC	0.448																																																2	Substitution - Nonsense(2)	kidney(2)											66	68	67					19																	12243969		2203	4299	6502	SO:0001587	stop_gained	7568			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1032T>A	19.37:g.12243969A>T	ENSP00000335437:p.Cys344*		Q8N457|Q9UG41	Nonsense_Mutation	SNP	ENST00000334213.5	37	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	A	36	5.610343	0.96637	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	.	.	.	0.94	-0.266	0.12942	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4274	0.11511	0.77:0.0:0.23:0.0	.	.	.	.	X	344	.	ENSP00000292241:C344X	C	-	3	2	ZNF20	12104969	0.973000	0.33851	0.390000	0.26220	0.469000	0.32828	0.640000	0.24705	-0.169000	0.10834	0.260000	0.18958	TGT		0.448	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		T	12243969	A	T	12243969	4	4	197	1	0	0	0	0	0	1	0	0	17766	157	6	5	570	5	ZNF20	19	12243969	Nonsense_Mutation	SNP	A	TCGA-B0-5115-01A-01D-1421-08	11169302	12243969	46885014	54	12152											
SIPA1L3	23094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38609984	38609984	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr19:38609984G>C	ENST00000222345.6	+	9	2839	c.2330G>C	c.(2329-2331)gGc>gCc	p.G777A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	777	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.G777A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTCCTTTCGGCCCCCCCATC	0.532																																																1	Substitution - Missense(1)	kidney(1)											66	73	71					19																	38609984		2203	4300	6503	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2330G>C	19.37:g.38609984G>C	ENSP00000222345:p.Gly777Ala		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736543	0.89482	.	.	ENSG00000105738	ENST00000222345	D	0.94966	-3.57	5.22	5.22	0.72569	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	M	0.91561	3.22	0.80722	D	1	P	0.50617	0.937	P	0.62298	0.9	D	0.98212	1.0473	10	0.72032	D	0.01	-44.3645	17.7273	0.88369	0.0:0.0:1.0:0.0	.	777	O60292	SI1L3_HUMAN	A	777	ENSP00000222345:G777A	ENSP00000222345:G777A	G	+	2	0	SIPA1L3	43301824	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	7.717000	0.84732	2.725000	0.93324	0.655000	0.94253	GGC		0.532	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		C	38609984	G	C	38609984	3	2	197	1	0	0	0	0	1	0	0	0	14337	1203	42	4	2356	4	SIPA1L3	19	38609984	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08	26366015	38609984	20518999	55	12153											
ZNF432	9668	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52538204	52538204	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr19:52538204G>T	ENST00000594154.1	-	5	940	c.728C>A	c.(727-729)tCc>tAc	p.S243Y	ZNF432_ENST00000221315.5_Missense_Mutation_p.S243Y			O94892	ZN432_HUMAN	zinc finger protein 432	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S243Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGACTTTCTGGAGAACACTTT	0.388																																																1	Substitution - Missense(1)	kidney(1)											108	113	111					19																	52538204		2203	4300	6503	SO:0001583	missense	9668			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.728C>A	19.37:g.52538204G>T	ENSP00000470488:p.Ser243Tyr			Missense_Mutation	SNP	ENST00000594154.1	37	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806351	0.31961	.	.	ENSG00000256087	ENST00000221315	T	0.07567	3.18	3.0	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10294	0.0252	L	0.42529	1.33	0.20638	N	0.99988	D	0.60160	0.987	P	0.48627	0.584	T	0.20438	-1.0275	9	0.29301	T	0.29	.	8.0741	0.30706	0.1258:0.0:0.8742:0.0	.	243	O94892	ZN432_HUMAN	Y	243	ENSP00000221315:S243Y	ENSP00000221315:S243Y	S	-	2	0	ZNF432	57230016	0.001000	0.12720	0.999000	0.59377	0.858000	0.48976	0.321000	0.19558	1.694000	0.51137	0.591000	0.81541	TCC		0.388	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		T	52538204	G	T	52538204	3	4	197	1	0	0	0	0	1	0	0	0	17911	1174	41	4	1234	4	ZNF432	19	52538204	Missense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08	13928220	52538204	6590779	56	12154											
ZNF320	162967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53384724	53384724	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr19:53384724A>C	ENST00000595635.1	-	8	1156	c.655T>G	c.(655-657)Tgt>Ggt	p.C219G	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.C219G|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C219G(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CATTCATTACATGTGTAATGT	0.383																																																1	Substitution - Missense(1)	kidney(1)											113	102	106					19																	53384724		2203	4300	6503	SO:0001583	missense	162967			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.655T>G	19.37:g.53384724A>C	ENSP00000473091:p.Cys219Gly		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	18.45	3.626745	0.66901	.	.	ENSG00000182986	ENST00000391781	D	0.85258	-1.96	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94568	0.8250	H	0.98866	4.355	0.33818	D	0.628674	D	0.89917	1.0	D	0.81914	0.995	D	0.94074	0.7338	9	0.87932	D	0	.	8.2974	0.31993	1.0:0.0:0.0:0.0	.	219	A2RRD8	ZN320_HUMAN	G	219	ENSP00000375660:C219G	ENSP00000375660:C219G	C	-	1	0	ZNF320	58076536	0.989000	0.36119	0.019000	0.16419	0.721000	0.41392	5.128000	0.64733	0.792000	0.33850	0.155000	0.16302	TGT		0.383	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		C	53384724	A	C	53384724	3	2	197	1	0	0	0	0	1	0	0	0	17844	217	8	5	878	5	ZNF320	19	53384724	Missense_Mutation	SNP	A	TCGA-B0-5115-01A-01D-1421-08	846520	53384724	5744259	57	12155											
PTPN1	5770	broad.mit.edu;hgsc.bcm.edu	37	20	49196426	49196426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr20:49196426G>T	ENST00000371621.3	+	8	1225	c.1051G>T	c.(1051-1053)Gga>Tga	p.G351*	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Nonsense_Mutation_p.G278*	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	351					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)	p.G351*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	GGAAGAAAAAGGAAGCCCCTT	0.498											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	kidney(1)											51	58	56					20																	49196426		2203	4300	6503	SO:0001587	stop_gained	5770				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1051G>T	20.37:g.49196426G>T	ENSP00000360683:p.Gly351*	960	Q5TGD8|Q9BQV9|Q9NQQ4	Nonsense_Mutation	SNP	ENST00000371621.3	37	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670262	0.88348	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	.	.	.	6.01	2.29	0.28610	.	0.768919	0.12137	N	0.496251	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	5.1652	0.15082	0.5537:0.2898:0.1565:0.0	.	.	.	.	X	351;278	.	ENSP00000360683:G351X	G	+	1	0	PTPN1	48629833	0.336000	0.24757	0.003000	0.11579	0.067000	0.16453	1.343000	0.33930	0.493000	0.27837	-0.312000	0.09012	GGA		0.498	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			T	49196426	G	T	49196426	4	4	197	1	0	0	0	0	0	1	0	0	12785	1001	35	4	1081	4	PTPN1	20	49196426	Nonsense_Mutation	SNP	G	TCGA-B0-5115-01A-01D-1421-08		49196426	13829094	58	12156											
PEX26	55670	broad.mit.edu;ucsc.edu	37	22	18566233	18566233	+	Silent	SNP	T	T	G			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chr22:18566233T>G	ENST00000329627.7	+	4	608	c.402T>G	c.(400-402)ccT>ccG	p.P134P	PEX26_ENST00000428061.2_Silent_p.P134P|PEX26_ENST00000399744.3_Silent_p.P134P	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	134					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.P134P(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGCAAGAGCCTGGAGCTGTGC	0.493																																																1	Substitution - coding silent(1)	kidney(1)											115	135	128					22																	18566233		2203	4300	6503	SO:0001819	synonymous_variant	55670			AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"peroxisome biogenesis factor 26"			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.402T>G	22.37:g.18566233T>G			F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Silent	SNP	ENST00000329627.7	37	CCDS13750.1																																																																																				0.493	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929		G	18566233	T	G	18566233	2	3	197	1	0	0	0	0	0	0	0	1	11748	1567	55	5		5	PEX26	22	18566233	Silent	SNP	T	TCGA-B0-5115-01A-01D-1421-08		18566233	32738333	59	12157											
GPRASP1	9737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101911040	101911041	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5115-01A-01D-1421-08	TCGA-B0-5115-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f122b61c-d537-4456-84e8-54e541eec531	52d7031e-269c-432a-bbbb-ef02410e2412	g.chrX:101911040_101911041insG	ENST00000361600.5	+	5	3000_3001	c.2199_2200insG	c.(2200-2202)gggfs	p.G734fs	GPRASP1_ENST00000444152.1_Frame_Shift_Ins_p.G734fs|GPRASP1_ENST00000537097.1_Frame_Shift_Ins_p.G734fs|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Frame_Shift_Ins_p.G734fs	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	734	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTAATATAGATGGGACTGGAGA	0.441																																																0																																										SO:0001589	frameshift_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2202dupG	X.37:g.101911043_101911043dupG	ENSP00000355146:p.Gly734fs		O43168|Q96LA1	Frame_Shift_Ins	INS	ENST00000361600.5	37	CCDS35352.1																																																																																				0.441	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		G	101911041	-	G	101911040	7	5	197	1	0	1	1	0	0	0	0	0	6724	1461	51	0	2201	0	GPRASP1	23	101911040	Frame_Shift_Ins	INS	-	TCGA-B0-5115-01A-01D-1421-08		101911040	53359520	60	12158											
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39823255	39823255	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr1:39823255A>G	ENST00000372915.3	+	44	11735	c.11648A>G	c.(11647-11649)gAg>gGg	p.E3883G	MACF1_ENST00000564288.1_Missense_Mutation_p.E3878G|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.E3915G|MACF1_ENST00000317713.7_Missense_Mutation_p.E1816G|MACF1_ENST00000539005.1_Missense_Mutation_p.E1816G|MACF1_ENST00000545844.1_Missense_Mutation_p.E1816G|MACF1_ENST00000289893.4_Missense_Mutation_p.E2318G|MACF1_ENST00000361689.2_Missense_Mutation_p.E1816G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3883					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E1816G(1)|p.E2318G(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTCAGGATGAGTTGCAGAAA	0.498																																																2	Substitution - Missense(2)	kidney(2)											66	67	67					1																	39823255		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11648A>G	1.37:g.39823255A>G	ENSP00000362006:p.Glu3883Gly		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.5|28.5	4.929346|4.929346	0.92389|0.92389	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;T;T|.	0.36157|.	1.27;1.27;1.27;1.27;1.27;1.27;1.27|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|.	0.77818|.	0.4187|.	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.996;0.998|.	T|.	0.78638|.	-0.2126|.	10|.	0.87932|.	D|.	0|.	.|.	16.6288|16.6288	0.85011|0.85011	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3883;1816;1816;1781|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	G|W	1816;3883;1816;1816;1816;1965;2318|949	ENSP00000439537:E1816G;ENSP00000362006:E3883G;ENSP00000354573:E1816G;ENSP00000313438:E1816G;ENSP00000444364:E1816G;ENSP00000437059:E1965G;ENSP00000289893:E2318G|.	ENSP00000289893:E2318G|.	E|X	+|+	2|3	0|0	MACF1|MACF1	39595842|39595842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	8.950000|8.950000	0.93019|0.93019	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAG|TGA		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39823255	A	G	39823255	3	3	198	1	0	0	0	0	1	0	0	0	9146	304	11	3	11756	3	MACF1	1	39823255	Missense_Mutation	SNP	A	TCGA-B0-5116-01A-02D-1421-08		39823255	209427366	1	12159											
ANKRD13C	81573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70781173	70781173	+	Silent	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr1:70781173G>C	ENST00000370944.4	-	4	967	c.654C>G	c.(652-654)gcC>gcG	p.A218A	ANKRD13C_ENST00000262346.6_Silent_p.A183A	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	218					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.A218A(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CCTCTTTCAGGGCTTTTAATA	0.294																																																1	Substitution - coding silent(1)	kidney(1)											76	83	81					1																	70781173		2203	4298	6501	SO:0001819	synonymous_variant	81573				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.654C>G	1.37:g.70781173G>C			B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	ENST00000370944.4	37	CCDS648.2																																																																																				0.294	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		C	70781173	G	C	70781173	2	2	198	1	0	0	0	0	0	0	0	1	643	1219	43	4		4	ANKRD13C	1	70781173	Silent	SNP	G	TCGA-B0-5116-01A-02D-1421-08	30957918	70781173	178469448	2	12160											
TSEN15	116461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	184023905	184023905	+	Silent	SNP	C	C	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr1:184023905C>A	ENST00000361641.1	+	3	340	c.261C>A	c.(259-261)ctC>ctA	p.L87L	TSEN15_ENST00000533373.1_Silent_p.L87L|TSEN15_ENST00000423085.2_Silent_p.L87L	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	87					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)	tRNA-intron endonuclease activity (GO:0000213)	p.L87L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						TACCAGAACTCCAGCTCATCT	0.433																																																1	Substitution - coding silent(1)	kidney(1)											62	58	59					1																	184023905		2203	4300	6503	SO:0001819	synonymous_variant	116461			AF288394	CCDS1361.1, CCDS44286.1, CCDS72993.1	1q25	2013-08-06	2013-08-06	2008-06-12	ENSG00000198860	ENSG00000198860		"tRNA splicing endonuclease subunits"	16791	protein-coding gene	gene with protein product		608756	"chromosome 1 open reading frame 19", "tRNA splicing endonuclease 15 homolog (S. cerevisiae)"	C1orf19		11318611, 17166513	Standard	XM_006711148		Approved		uc001gqt.4	Q8WW01	OTTHUMG00000035461	ENST00000361641.1:c.261C>A	1.37:g.184023905C>A			B4DKP0|Q9BZQ5	Silent	SNP	ENST00000361641.1	37	CCDS1361.1																																																																																				0.433	TSEN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086132.1			A	184023905	C	A	184023905	2	1	198	1	0	0	0	0	0	0	0	1	16616	842	30	4		4	TSEN15	1	184023905	Silent	SNP	C	TCGA-B0-5116-01A-02D-1421-08	113242732	184023905	65226716	3	12161											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201010703	201010703	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr1:201010703C>G	ENST00000362061.3	-	41	5289	c.5063G>C	c.(5062-5064)aGg>aCg	p.R1688T	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1669T|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1688					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1688T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGGAACTCCCTTTCATAGTG	0.562																																																1	Substitution - Missense(1)	kidney(1)											78	65	70					1																	201010703		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5063G>C	1.37:g.201010703C>G	ENSP00000355192:p.Arg1688Thr		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	9.912	1.209713	0.22289	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95949	-3.86;-3.8	4.51	0.408	0.16377	.	9.571350	0.00397	N	0.000059	D	0.90817	0.7116	L	0.36672	1.1	0.09310	N	1	B	0.23937	0.094	B	0.19666	0.026	T	0.79262	-0.1876	10	0.16896	T	0.51	.	3.3463	0.07136	0.3599:0.4418:0.0:0.1983	.	1688	Q13698	CAC1S_HUMAN	T	1688;1669	ENSP00000355192:R1688T;ENSP00000356307:R1669T	ENSP00000355192:R1688T	R	-	2	0	CACNA1S	199277326	0.000000	0.05858	0.123000	0.21794	0.042000	0.13812	-0.016000	0.12613	0.234000	0.21139	-0.475000	0.04921	AGG		0.562	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		G	201010703	C	G	201010703	3	3	198	1	0	0	0	0	1	0	0	0	2549	681	24	4	574	4	CACNA1S	1	201010703	Missense_Mutation	SNP	C	TCGA-B0-5116-01A-02D-1421-08	16986798	201010703	48239918	4	12162											
KIAA1383	54627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	232942950	232942950	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr1:232942950G>C	ENST00000418460.1	+	1	2308	c.2181G>C	c.(2179-2181)gaG>gaC	p.E727D		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	585	Ser-rich.				cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.E727D(2)									TTTTTGATGAGCCCAGCACAA	0.338																																																2	Substitution - Missense(2)	kidney(2)											43	41	42					1																	232942950		1838	4088	5926	SO:0001583	missense	54627			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2181G>C	1.37:g.232942950G>C	ENSP00000403208:p.Glu727Asp		A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.594672	0.00857	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.97	-3.97	0.04094	.	0.829517	0.09768	N	0.758386	T	0.06690	0.0171	N	0.01003	-1.06	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28459	-1.0043	9	0.10111	T	0.7	-0.0931	2.4498	0.04515	0.1598:0.1514:0.4051:0.2837	.	585	Q9P2G4	K1383_HUMAN	D	727	.	ENSP00000403208:E727D	E	+	3	2	KIAA1383	231009573	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.024000	0.03603	-1.157000	0.02815	-1.482000	0.00985	GAG		0.338	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		C	232942950	G	C	232942950	3	2	198	1	0	0	0	0	1	0	0	0	8230	962	34	4	2183	4	KIAA1383	1	232942950	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	31932247	232942950	16307671	5	12163											
CLIP4	79745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29383260	29383260	+	Silent	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr2:29383260C>T	ENST00000320081.5	+	12	1716	c.1461C>T	c.(1459-1461)ctC>ctT	p.L487L	CLIP4_ENST00000404424.1_Silent_p.L487L|CLIP4_ENST00000401605.1_Silent_p.L487L|CLIP4_ENST00000401617.2_Silent_p.L380L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	487								p.L487L(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AACTCCGCCTCGGAGAGAGAG	0.488																																																1	Substitution - coding silent(1)	kidney(1)											106	100	102					2																	29383260		2203	4300	6503	SO:0001819	synonymous_variant	79745			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1461C>T	2.37:g.29383260C>T			A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	CCDS1770.1																																																																																				0.488	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		T	29383260	C	T	29383260	2	4	198	1	0	0	0	0	0	0	0	1	3537	871	31	1		1	CLIP4	2	29383260	Silent	SNP	C	TCGA-B0-5116-01A-02D-1421-08		29383260	213816113	6	12164											
TACR1	6869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	75278449	75278450	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr2:75278449_75278450GT>TA	ENST00000305249.5	-	4	1625_1626	c.860_861AC>TA	c.(859-861)tAC>tTA	p.Y287L	TACR1_ENST00000409848.3_Missense_Mutation_p.Y287L	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	287					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.Y287*(1)|p.Y287F(1)|p.Y287L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGATGGCCAGGTAGACCTGCTG	0.545																																					Pancreas(64;62 1268 3653 14826 43765)											3	Substitution - Missense(2)|Substitution - Nonsense(1)	kidney(3)																																								SO:0001583	missense	6869			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.860_861delinsTA	2.37:g.75278449_75278450delinsTA	ENSP00000303522:p.Tyr287Leu		A8K150	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000305249.5	37	CCDS1958.1																																																																																				0.545	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		TA	75278450	GT	TA	75278449	3	4	198	1	0	0	0	0	1	0	0	0	15510	1256	44	4	374	4	TACR1	2	75278449	Missense_Mutation	DNP	GT	TCGA-B0-5116-01A-02D-1421-08	45895189	75278449	167920924	7	12165											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179587658	179587658	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr2:179587658G>C	ENST00000591111.1	-	74	21241	c.21017C>G	c.(21016-21018)cCt>cGt	p.P7006R	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P7323R|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6079R|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12590	Ig-like 52.				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)	p.P6079R(1)		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)			AACAAAATAAGGCGGTTCTAA	0.403																																																1	Substitution - Missense(1)	kidney(1)											37	37	37					2																	179587658		1955	4155	6110	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21017C>G	2.37:g.179587658G>C	ENSP00000465570:p.Pro7006Arg		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	12.96	2.094509	0.36952	.	.	ENSG00000155657	ENST00000342992	T	0.81078	-1.45	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94092	0.8106	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95341	0.8438	9	0.87932	D	0	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	7006	Q8WZ42	TITIN_HUMAN	R	6079	ENSP00000343764:P6079R	ENSP00000343764:P6079R	P	-	2	0	TTN	179295903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.944000	0.87722	2.821000	0.97095	0.650000	0.86243	CCT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179587658	G	C	179587658	3	2	198	1	0	0	0	0	1	0	0	0	16740	1000	35	4	82709	4	TTN	2	179587658	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	104309209	179587658	63611715	8	12166											
CERKL	375298	hgsc.bcm.edu	37	2	182430234	182430234	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr2:182430234delC	ENST00000339098.5	-	5	680	c.681delG	c.(679-681)gggfs	p.G227fs	CERKL_ENST00000410087.3_Intron|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_Intron|CERKL_ENST00000409440.3_Frame_Shift_Del_p.G183fs			Q49MI3	CERKL_HUMAN	ceramide kinase-like	227	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTTTCCGATGCCCACTGTGAA	0.318																																																0													132	118	122					2																	182430234		1851	4102	5953	SO:0001589	frameshift_variant	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.681delG	2.37:g.182430234delC	ENSP00000341159:p.Gly227fs		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Frame_Shift_Del	DEL	ENST00000339098.5	37	CCDS42789.1																																																																																				0.318	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			-	182430234	C	-	182430234	7	5	198	1	0	1	0	1	0	0	0	0	3270	726	26	0	1035	0	CERKL	2	182430234	Frame_Shift_Del	DEL	C	TCGA-B0-5116-01A-02D-1421-08	2842576	182430234	60769139	9	12167											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52643368	52643389	+	Frame_Shift_Del	DEL	TGCTCTTGAAATAAATCAAGCC	TGCTCTTGAAATAAATCAAGCC	-	rs183157690		TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	TGCTCTTGAAATAAATCAAGCC	TGCTCTTGAAATAAATCAAGCC	TGCTCTTGAAATAAATCAAGCC	-	TGCTCTTGAAATAAATCAAGCC	TGCTCTTGAAATAAATCAAGCC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr3:52643368_52643389delTGCTCTTGAAATAAATCAAGCC	ENST00000296302.7	-	16	2508_2529	c.2507_2528delGGCTTGATTTATTTCAAGAGCA	c.(2506-2529)cggcttgatttatttcaagagcatfs	p.RLDLFQEH836fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.RLDLFQEH804fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.RLDLFQEH851fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.RLDLFQEH836fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.RLDLFQEH851fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.RLDLFQEH836fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.RLDLFQEH836fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.RLDLFQEH836fs			Q86U86	PB1_HUMAN	polybromo 1	836	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCAAACATATGCTCTTGAAATAAATCAAGCCGACGGTAGCG	0.351			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2507_2528delGGCTTGATTTATTTCAAGAGCA	3.37:g.52643368_52643389delTGCTCTTGAAATAAATCAAGCC	ENSP00000296302:p.Arg836fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.351	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52643389	TGCTCTTGAAATAAATCAAGCC	-	52643368	7	5	198	1	0	1	0	1	0	0	0	0	11493	1464	51	0	2432	0	PBRM1	3	52643368	Frame_Shift_Del	DEL	TGCTCTTGAAATAAATCAAGCC	TCGA-B0-5116-01A-02D-1421-08		52643368	145379062	10	12168											
ALDH1L1	10840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	125828895	125828895	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr3:125828895C>T	ENST00000393434.2	-	20	2588	c.2239G>A	c.(2239-2241)Ggg>Agg	p.G747R	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G646R|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G747R|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G757R|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	747	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.G747R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCTGCGGCCCGTGGTCGGTG	0.607																																																1	Substitution - Missense(1)	kidney(1)											146	118	127					3																	125828895		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2239G>A	3.37:g.125828895C>T	ENSP00000377083:p.Gly747Arg		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228755	0.58777	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	3.91	3.91	0.45181	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	H	0.99911	4.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98235	1.0485	10	0.87932	D	0	.	13.431	0.61055	0.0:1.0:0.0:0.0	.	646;282;747	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	R	757;747;646;747	ENSP00000273450:G757R;ENSP00000420293:G747R;ENSP00000395881:G646R;ENSP00000377083:G747R	ENSP00000273450:G757R	G	-	1	0	ALDH1L1	127311585	1.000000	0.71417	0.994000	0.49952	0.172000	0.22775	6.979000	0.76154	2.032000	0.59987	0.491000	0.48974	GGG		0.607	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		T	125828895	C	T	125828895	3	4	198	1	0	0	0	0	1	0	0	0	494	652	23	1	485	1	ALDH1L1	3	125828895	Missense_Mutation	SNP	C	TCGA-B0-5116-01A-02D-1421-08	73185527	125828895	72193535	11	12169											
NEK11	79858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130992364	130992364	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr3:130992364G>A	ENST00000510769.1	+	13	1602	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	NEK11_ENST00000383366.4_Missense_Mutation_p.G555E|NEK11_ENST00000429253.2_Missense_Mutation_p.G555E|NEK11_ENST00000412440.2_Missense_Mutation_p.G371E|NEK11_ENST00000508196.1_Missense_Mutation_p.G555E|NEK11_ENST00000510688.1_Intron					NIMA-related kinase 11									p.G555E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATGTCCCCAGGACCACCAATT	0.493																																																1	Substitution - Missense(1)	kidney(1)											158	119	132					3																	130992364		2203	4300	6503	SO:0001583	missense	79858			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1349G>A	3.37:g.130992364G>A	ENSP00000421549:p.Gly450Glu			Missense_Mutation	SNP	ENST00000510769.1	37		.	.	.	.	.	.	.	.	.	.	G	5.389	0.256956	0.10239	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T	0.74947	-0.72;-0.65;-0.65;-0.89;-0.65	5.73	0.57	0.17347	.	0.356243	0.20309	N	0.094878	T	0.61350	0.2340	L	0.53249	1.67	0.18873	N	0.999989	B;B;B	0.23249	0.082;0.049;0.027	B;B;B	0.19946	0.027;0.012;0.012	T	0.50709	-0.8796	10	0.41790	T	0.15	.	2.4515	0.04519	0.2118:0.1283:0.5274:0.1325	.	450;371;555	E9PHI8;B4DDN2;Q8NG66	.;.;NEK11_HUMAN	E	450;555;555;371;555	ENSP00000421549:G450E;ENSP00000397180:G555E;ENSP00000372857:G555E;ENSP00000411888:G371E;ENSP00000421851:G555E	ENSP00000372857:G555E	G	+	2	0	NEK11	132475054	1.000000	0.71417	0.004000	0.12327	0.012000	0.07955	1.698000	0.37794	0.076000	0.16826	-0.259000	0.10710	GGA		0.493	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		A	130992364	G	A	130992364	3	1	198	1	0	0	0	0	1	0	0	0	10325	1174	41	2	1740	2	NEK11	3	130992364	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	5163469	130992364	67030066	12	12170											
REST	5978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57798103	57798103	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr4:57798103A>G	ENST00000309042.7	+	4	3393	c.3079A>G	c.(3079-3081)Agt>Ggt	p.S1027G		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	1027	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S1027G(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTCAGAGGGTAGTGATGATTC	0.468																																																1	Substitution - Missense(1)	kidney(1)											82	72	75					4																	57798103		2203	4300	6503	SO:0001583	missense	5978			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.3079A>G	4.37:g.57798103A>G	ENSP00000311816:p.Ser1027Gly		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235800	0.79800	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.35236	1.32	6.17	6.17	0.99709	.	0.000000	0.56097	D	0.000022	T	0.60287	0.2257	M	0.67953	2.075	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.62530	-0.6835	10	0.87932	D	0	-16.9115	16.4837	0.84171	1.0:0.0:0.0:0.0	.	1004;1027	F8WAN5;Q13127	.;REST_HUMAN	G	1027;1004	ENSP00000311816:S1027G	ENSP00000311816:S1027G	S	+	1	0	REST	57492860	1.000000	0.71417	0.992000	0.48379	0.850000	0.48378	8.399000	0.90197	2.371000	0.80710	0.533000	0.62120	AGT		0.468	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		G	57798103	A	G	57798103	3	3	198	1	0	0	0	0	1	0	0	0	13240	420	15	3	3089	3	REST	4	57798103	Missense_Mutation	SNP	A	TCGA-B0-5116-01A-02D-1421-08		57798103	133356173	13	12171											
PDLIM5	10611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	95583632	95583632	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr4:95583632G>A	ENST00000317968.4	+	12	1781	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N	PDLIM5_ENST00000514743.1_Missense_Mutation_p.D578N|PDLIM5_ENST00000542407.1_Missense_Mutation_p.D427N|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000437932.1_Missense_Mutation_p.D440N	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	549	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.D549N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AGAAGCTGGTGACATGTTCCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											158	152	154					4																	95583632		2203	4300	6503	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1645G>A	4.37:g.95583632G>A	ENSP00000321746:p.Asp549Asn		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	36	5.706106	0.96812	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	5.93	5.93	0.95920	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.94581	0.8254	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.994	D;D;D;D	0.97110	1.0;1.0;0.999;0.966	D	0.94492	0.7702	10	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	446;578;549;440	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	N	440;549;446;427;578	ENSP00000398469:D440N;ENSP00000321746:D549N;ENSP00000424297:D446N;ENSP00000442187:D427N;ENSP00000424360:D578N	ENSP00000321746:D549N	D	+	1	0	PDLIM5	95802655	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.756000	0.98918	2.826000	0.97356	0.655000	0.94253	GAC		0.413	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			A	95583632	G	A	95583632	3	1	198	1	0	0	0	0	1	0	0	0	11685	1290	45	2	1847	2	PDLIM5	4	95583632	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	37785529	95583632	95570644	14	12172											
INPP4B	8821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	143081662	143081662	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr4:143081662delA	ENST00000513000.1	-	18	1845	c.1412delT	c.(1411-1413)ttafs	p.L471fs	INPP4B_ENST00000262992.4_Frame_Shift_Del_p.L471fs|INPP4B_ENST00000509777.1_Frame_Shift_Del_p.L471fs|INPP4B_ENST00000508116.1_Frame_Shift_Del_p.L471fs|INPP4B_ENST00000308502.4_Frame_Shift_Del_p.L471fs	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	471					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTAGAGTGCTAAAAGAGCACT	0.488																																																0													102	89	93					4																	143081662		2203	4300	6503	SO:0001589	frameshift_variant	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1412delT	4.37:g.143081662delA	ENSP00000425487:p.Leu471fs		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Frame_Shift_Del	DEL	ENST00000513000.1	37	CCDS3757.1																																																																																				0.488	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		-	143081662	A	-	143081662	7	5	198	1	0	1	0	1	0	0	0	0	7755	372	13	0	1402	0	INPP4B	4	143081662	Frame_Shift_Del	DEL	A	TCGA-B0-5116-01A-02D-1421-08	47498030	143081662	48072614	15	12173											
MATR3	9782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138643267	138643267	+	Silent	SNP	T	T	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr5:138643267T>C	ENST00000394805.3	+	2	498	c.163T>C	c.(163-165)Tta>Cta	p.L55L	MATR3_ENST00000502929.1_Silent_p.L55L|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000509990.1_Silent_p.L55L|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000361059.2_Silent_p.L55L|MATR3_ENST00000394800.2_Silent_p.L55L|MATR3_ENST00000510056.1_Silent_p.L55L	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	55					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.L55L(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTTGCTAGTTTAATGAATCT	0.438																																																1	Substitution - coding silent(1)	kidney(1)											143	134	137					5																	138643267		2203	4300	6503	SO:0001819	synonymous_variant	9782			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.163T>C	5.37:g.138643267T>C			B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	CCDS4210.1																																																																																				0.438	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		C	138643267	T	C	138643267	2	2	198	1	0	0	0	0	0	0	0	1	9339	1838	64	3		3	MATR3	5	138643267	Silent	SNP	T	TCGA-B0-5116-01A-02D-1421-08		138643267	42271993	16	12174											
PTPRK	5796	broad.mit.edu;hgsc.bcm.edu|broad.mit.edu	37	6	128318044	128318045	+	Splice_Site	DNP	AC	AC	GT			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr6:128318044_128318045AC>GT	ENST00000368215.3	-	17	2764		c.e17+1		PTPRK_ENST00000368207.3_Splice_Site|PTPRK_ENST00000368210.3_Splice_Site|PTPRK_ENST00000368213.5_Splice_Site|PTPRK_ENST00000368227.3_Splice_Site|PTPRK_ENST00000532331.1_Splice_Site|PTPRK_ENST00000368226.4_Splice_Site			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(3)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATGGGAACTTACATGCTATAAT	0.327																																																3	Unknown(3)	kidney(3)																																								SO:0001630	splice_region_variant	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2765_2765delinsGT	6.37:g.128318044_128318045delinsGT			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Splice_Site	SNP	ENST00000368215.3	37																																																																																					0.327	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		Intron	GT	128318045	AC	GT	128318044	5	3	198	1	0	0	0	0	0	0	1	0	12811	405	14	3	1631	3	PTPRK	6	128318044	Splice_Site	DNP	AC	TCGA-B0-5116-01A-02D-1421-08		128318044	42797023	17	12175											
ALDH8A1	64577	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	135253987	135253987	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr6:135253987G>C	ENST00000265605.2	-	5	844	c.776C>G	c.(775-777)cCt>cGt	p.P259R	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.P259R|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.P209R	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	259					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.P259R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GATGATGGCAGGATTCTTGCC	0.612																																																1	Substitution - Missense(1)	kidney(1)											93	95	94					6																	135253987		2203	4300	6503	SO:0001583	missense	64577			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.776C>G	6.37:g.135253987G>C	ENSP00000265605:p.Pro259Arg		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940477	0.52972	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.38722	1.12;1.12;1.12	5.45	4.58	0.56647	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	H	0.97732	4.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.997	T	0.82774	-0.0291	10	0.87932	D	0	.	14.1317	0.65257	0.0723:0.0:0.9277:0.0	.	209;259;259	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	R	259;259;209	ENSP00000265605:P259R;ENSP00000356819:P259R;ENSP00000356821:P209R	ENSP00000265605:P259R	P	-	2	0	ALDH8A1	135295680	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	7.677000	0.84024	1.300000	0.44818	0.557000	0.71058	CCT		0.612	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			C	135253987	G	C	135253987	3	2	198	1	0	0	0	0	1	0	0	0	505	1000	35	4	699	4	ALDH8A1	6	135253987	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	6935943	135253987	35861080	18	12176											
KIAA0415	9907	broad.mit.edu;ucsc.edu	37	7	4824670	4824670	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr7:4824670A>C	ENST00000348624.4	+	7	1016	c.922A>C	c.(922-924)Agt>Cgt	p.S308R	AP5Z1_ENST00000401897.1_Missense_Mutation_p.S308R	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	308					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S1019R(1)|p.S152R(1)									CATTGAGCAAAGTAACCGACG	0.682																																																2	Substitution - Missense(2)	kidney(2)											29	34	32					7																	4824670		1972	4142	6114	SO:0001583	missense	0			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.922A>C	7.37:g.4824670A>C	ENSP00000297562:p.Ser308Arg		Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336554	0.60963	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.65916	-0.18;0.53	4.88	4.88	0.63580	.	0.264857	0.42964	D	0.000632	T	0.78635	0.4314	M	0.81942	2.565	0.48395	D	0.999644	D	0.76494	0.999	D	0.69824	0.966	T	0.81669	-0.0828	10	0.62326	D	0.03	.	13.6621	0.62374	1.0:0.0:0.0:0.0	.	308	O43299	K0415_HUMAN	R	308	ENSP00000297562:S308R;ENSP00000384980:S308R	ENSP00000297562:S308R	S	+	1	0	KIAA0415	4791196	1.000000	0.71417	0.890000	0.34922	0.476000	0.33039	4.522000	0.60539	1.832000	0.53329	0.459000	0.35465	AGT		0.682	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			C	4824670	A	C	4824670	3	2	198	1	0	0	0	0	1	0	0	0	8177	72	3	5	948	5	KIAA0415	7	4824670	Missense_Mutation	SNP	A	TCGA-B0-5116-01A-02D-1421-08		4824670	154313993	19	12177											
EGFR	1956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	55269438	55269438	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr7:55269438G>A	ENST00000275493.2	+	26	3302	c.3125G>A	c.(3124-3126)aGc>aAc	p.S1042N	EGFR_ENST00000455089.1_Missense_Mutation_p.S997N|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.S989N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1042					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.S1042N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGTGCAACCAGCAACAATTCC	0.448		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	1	Substitution - Missense(1)	kidney(1)											174	158	163					7																	55269438		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3125G>A	7.37:g.55269438G>A	ENSP00000275493:p.Ser1042Asn		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820688	0.50633	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.74842	-0.88;-0.84;-0.84	6.06	6.06	0.98353	.	0.674999	0.16864	N	0.196399	T	0.80423	0.4620	M	0.80847	2.515	0.43326	D	0.995359	P;P	0.45594	0.704;0.862	B;P	0.44477	0.296;0.451	T	0.79460	-0.1794	10	0.36615	T	0.2	.	19.1882	0.93653	0.0:0.0:1.0:0.0	.	997;1042	Q504U8;P00533	.;EGFR_HUMAN	N	997;912;1042;989	ENSP00000415559:S997N;ENSP00000275493:S1042N;ENSP00000395243:S989N	ENSP00000275493:S1042N	S	+	2	0	EGFR	55236932	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	6.371000	0.73119	2.879000	0.98667	0.650000	0.86243	AGC		0.448	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55269438	G	A	55269438	3	1	198	1	0	0	0	0	1	0	0	0	4969	971	34	2	3491	2	EGFR	7	55269438	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	50444768	55269438	103869225	20	12178											
PPP1R9A	55607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94881092	94881092	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr7:94881092A>T	ENST00000433881.1	+	10	2881	c.2349A>T	c.(2347-2349)aaA>aaT	p.K783N	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.K783N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.K783N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.K783N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.K805N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.K783N			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	783	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.K805N(1)|p.K783N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTTCATCAAAAGACAGGAAG	0.343										HNSCC(28;0.073)																																						2	Substitution - Missense(2)	kidney(2)											48	51	50					7																	94881092		2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2349A>T	7.37:g.94881092A>T	ENSP00000398870:p.Lys783Asn		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980545	0.53827	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.19250	2.16;2.22;2.2;2.22;2.18;2.2	5.05	0.00716	0.14070	.	0.201832	0.43579	D	0.000545	T	0.31979	0.0814	L	0.55213	1.73	0.31568	N	0.656621	P;D;D;P;P	0.62365	0.554;0.987;0.991;0.931;0.921	B;P;P;B;B	0.60473	0.258;0.875;0.865;0.444;0.411	T	0.34428	-0.9829	10	0.72032	D	0.01	.	9.5028	0.39028	0.7041:0.0:0.2959:0.0	.	783;783;805;783;783	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	N	805;783;783;783;783;783	ENSP00000405514:K805N;ENSP00000344524:K783N;ENSP00000411342:K783N;ENSP00000398870:K783N;ENSP00000289495:K783N;ENSP00000402893:K783N	ENSP00000289495:K783N	K	+	3	2	PPP1R9A	94719028	1.000000	0.71417	0.998000	0.56505	0.694000	0.40290	0.997000	0.29731	0.060000	0.16281	-0.451000	0.05528	AAA		0.343	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		T	94881092	A	T	94881092	3	4	198	1	0	0	0	0	1	0	0	0	12383	11	1	5	2453	5	PPP1R9A	7	94881092	Missense_Mutation	SNP	A	TCGA-B0-5116-01A-02D-1421-08	39611654	94881092	64257571	21	12179											
PIK3CG	5294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	106508218	106508218	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr7:106508218A>T	ENST00000359195.3	+	2	522	c.212A>T	c.(211-213)aAg>aTg	p.K71M	PIK3CG_ENST00000440650.2_Missense_Mutation_p.K71M|PIK3CG_ENST00000496166.1_Missense_Mutation_p.K71M	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	71	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K71M(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAGCAGATGAAGGCCCAGGTG	0.652																																																1	Substitution - Missense(1)	kidney(1)											26	31	30					7																	106508218		2201	4295	6496	SO:0001583	missense	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.212A>T	7.37:g.106508218A>T	ENSP00000352121:p.Lys71Met		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305520	0.60305	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.74842	-0.88;-0.88;-0.88	5.64	4.48	0.54585	.	0.043082	0.85682	D	0.000000	T	0.80944	0.4721	M	0.64997	1.995	0.52501	D	0.999951	D	0.60160	0.987	P	0.59012	0.85	T	0.82200	-0.0575	10	0.87932	D	0	-24.9769	11.8359	0.52323	0.9312:0.0:0.0688:0.0	.	71	P48736	PK3CG_HUMAN	M	71	ENSP00000392258:K71M;ENSP00000419260:K71M;ENSP00000352121:K71M	ENSP00000352121:K71M	K	+	2	0	PIK3CG	106295454	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.818000	0.75257	1.067000	0.40740	0.455000	0.32223	AAG		0.652	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			T	106508218	A	T	106508218	3	4	198	1	0	0	0	0	1	0	0	0	11918	72	3	5	214	5	PIK3CG	7	106508218	Missense_Mutation	SNP	A	TCGA-B0-5116-01A-02D-1421-08	11627126	106508218	52630445	22	12180											
C7orf58	79974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	120773891	120773891	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr7:120773891A>C	ENST00000310396.5	+	13	2059	c.1592A>C	c.(1591-1593)gAa>gCa	p.E531A	CPED1_ENST00000423795.1_Missense_Mutation_p.E311A|CPED1_ENST00000450913.2_Missense_Mutation_p.E531A	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	531						endoplasmic reticulum (GO:0005783)		p.E531A(1)									TCTTTCACAGAAGATAAGAAC	0.303																																																1	Substitution - Missense(1)	kidney(1)											97	100	99					7																	120773891		2203	4299	6502	SO:0001583	missense	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1592A>C	7.37:g.120773891A>C	ENSP00000309772:p.Glu531Ala		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	4.759	0.141144	0.09083	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.45668	2.22;0.89;1.89;1.9;1.48	5.44	4.3	0.51218	.	1.187570	0.05723	N	0.598062	T	0.41581	0.1165	L	0.54323	1.7	0.23325	N	0.997903	B;B;B	0.26809	0.001;0.16;0.0	B;B;B	0.28305	0.003;0.088;0.001	T	0.33650	-0.9860	10	0.28530	T	0.3	.	8.508	0.33199	0.9092:0.0:0.0908:0.0	.	311;531;531	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	A	531;531;531;311;311	ENSP00000309772:E531A;ENSP00000398082:E531A;ENSP00000406122:E531A;ENSP00000415573:E311A;ENSP00000391952:E311A	ENSP00000309772:E531A	E	+	2	0	C7orf58	120561127	0.245000	0.23899	0.002000	0.10522	0.840000	0.47671	2.502000	0.45398	1.021000	0.39600	0.529000	0.55759	GAA		0.303	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		C	120773891	A	C	120773891	3	2	198	1	0	0	0	0	1	0	0	0	2407	246	9	5	1638	5	C7orf58	7	120773891	Missense_Mutation	SNP	A	TCGA-B0-5116-01A-02D-1421-08	14265673	120773891	38364772	23	12181											
GTF2E2	2961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	30492585	30492585	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr8:30492585C>G	ENST00000355904.4	-	3	504	c.222G>C	c.(220-222)aaG>aaC	p.K74N		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	74					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K74N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		GAACACCAAACTTATATCCAG	0.333																																																1	Substitution - Missense(1)	kidney(1)											92	86	88					8																	30492585		2202	4298	6500	SO:0001583	missense	2961			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"General transcription factors"	4651	protein-coding gene	gene with protein product		189964	"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.222G>C	8.37:g.30492585C>G	ENSP00000348168:p.Lys74Asn		D3DSV2|Q9H2B9	Missense_Mutation	SNP	ENST00000355904.4	37	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164210	0.38217	.	.	ENSG00000197265	ENST00000355904;ENST00000518599;ENST00000518445	T;T;T	0.45668	0.89;0.89;0.89	6.17	1.97	0.26223	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor TFIIE beta subunit, DNA-binding domain (2);	0.043006	0.85682	D	0.000000	T	0.30293	0.0760	L	0.39085	1.19	0.54753	D	0.999987	B	0.23735	0.09	B	0.29267	0.1	T	0.05241	-1.0897	10	0.24483	T	0.36	-17.1533	8.4788	0.33030	0.0:0.6279:0.0:0.3721	.	74	P29084	T2EB_HUMAN	N	74	ENSP00000348168:K74N;ENSP00000429921:K74N;ENSP00000429312:K74N	ENSP00000348168:K74N	K	-	3	2	GTF2E2	30612127	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.444000	0.35068	0.498000	0.27948	-0.137000	0.14449	AAG		0.333	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		G	30492585	C	G	30492585	3	3	198	1	0	0	0	0	1	0	0	0	6859	564	20	4	677	4	GTF2E2	8	30492585	Missense_Mutation	SNP	C	TCGA-B0-5116-01A-02D-1421-08		30492585	115871437	24	12182											
FKBP15	23307	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	115932898	115932898	+	Silent	SNP	G	G	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr9:115932898G>T	ENST00000238256.3	-	25	2787	c.2670C>A	c.(2668-2670)atC>atA	p.I890I		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	890					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.I890I(1)|p.I915I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCTGGTTCATGATCTTCTTGA	0.428																																																2	Substitution - coding silent(2)	kidney(2)											176	169	171					9																	115932898		1938	4145	6083	SO:0001819	synonymous_variant	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2670C>A	9.37:g.115932898G>T			Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	CCDS48007.1																																																																																				0.428	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		T	115932898	G	T	115932898	2	4	198	1	0	0	0	0	0	0	0	1	5907	1280	45	4		4	FKBP15	9	115932898	Silent	SNP	G	TCGA-B0-5116-01A-02D-1421-08		115932898	25280533	25	12183											
PDE6C	5146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	95415548	95415548	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr10:95415548G>A	ENST00000371447.3	+	16	2105	c.1967G>A	c.(1966-1968)cGg>cAg	p.R656Q		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	656					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.R656Q(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CTAAATAAGCGGCAGTTTGAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											151	152	152					10																	95415548		2203	4300	6503	SO:0001583	missense	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1967G>A	10.37:g.95415548G>A	ENSP00000360502:p.Arg656Gln		A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751650	0.69533	.	.	ENSG00000095464	ENST00000371447	T	0.76060	-0.99	5.41	5.41	0.78517	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.094597	0.85682	D	0.000000	T	0.66733	0.2819	L	0.43152	1.355	0.58432	D	0.999999	P	0.38711	0.643	B	0.29353	0.101	T	0.70956	-0.4731	10	0.56958	D	0.05	.	18.9907	0.92791	0.0:0.0:1.0:0.0	.	656	P51160	PDE6C_HUMAN	Q	656	ENSP00000360502:R656Q	ENSP00000360502:R656Q	R	+	2	0	PDE6C	95405538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.040000	0.70980	2.826000	0.97356	0.561000	0.74099	CGG		0.343	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		A	95415548	G	A	95415548	3	1	198	1	0	0	0	0	1	0	0	0	11649	1116	39	1	2029	1	PDE6C	10	95415548	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08		95415548	40119199	26	12184											
NUP98	4928	broad.mit.edu;hgsc.bcm.edu	37	11	3797144	3797144	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:3797144C>G	ENST00000324932.7	-	5	883	c.463G>C	c.(463-465)Gct>Cct	p.A155P	NUP98_ENST00000397004.4_Missense_Mutation_p.A155P|NUP98_ENST00000359171.4_Missense_Mutation_p.A155P|NUP98_ENST00000355260.3_Missense_Mutation_p.A155P|NUP98_ENST00000397007.4_Missense_Mutation_p.A155P	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	155	FG repeats 1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.A155P(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTAGGAGCAGCTGTAAAACTA	0.408			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	1	Substitution - Missense(1)	kidney(1)											120	128	125					11																	3797144		2201	4298	6499	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.463G>C	11.37:g.3797144C>G	ENSP00000316032:p.Ala155Pro		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399391	0.83120	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007;ENST00000532475	.	.	.	5.67	3.78	0.43462	.	0.128387	0.51477	D	0.000089	T	0.65069	0.2656	L	0.41961	1.31	0.45139	D	0.998153	D;D;D;D;D	0.89917	1.0;0.996;0.99;1.0;1.0	D;P;P;D;D	0.76575	0.972;0.857;0.802;0.988;0.988	T	0.61019	-0.7147	9	0.27082	T	0.32	.	11.6111	0.51059	0.0:0.8517:0.0:0.1483	.	155;155;155;155;155	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	P	155;155;155;155;155;118	.	ENSP00000316032:A155P	A	-	1	0	NUP98	3753720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.722000	0.38042	1.410000	0.46936	0.655000	0.94253	GCT		0.408	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		G	3797144	C	G	3797144	3	3	198	1	0	0	0	0	1	0	0	0	10775	797	28	4	5127	4	NUP98	11	3797144	Missense_Mutation	SNP	C	TCGA-B0-5116-01A-02D-1421-08		3797144	131209372	27	12185											
OR51I2	390064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5475160	5475160	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:5475160G>A	ENST00000341449.2	+	1	523	c.442G>A	c.(442-444)Gca>Aca	p.A148T	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	148					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)	p.A148T(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTTTAGGTGCAGCTGCTCG	0.498																																																1	Substitution - Missense(1)	kidney(1)											165	151	156					11																	5475160		2201	4297	6498	SO:0001583	missense	390064			BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.442G>A	11.37:g.5475160G>A	ENSP00000341987:p.Ala148Thr		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	G	6.256	0.415393	0.11870	.	.	ENSG00000187918	ENST00000341449	T	0.37584	1.19	5.58	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.106561	0.41605	D	0.000842	T	0.29061	0.0722	L	0.37630	1.12	0.09310	N	1	B	0.20164	0.042	B	0.28385	0.089	T	0.26326	-1.0106	10	0.62326	D	0.03	.	8.5807	0.33626	0.1751:0.0:0.8249:0.0	.	148	Q9H344	O51I2_HUMAN	T	148	ENSP00000341987:A148T	ENSP00000341987:A148T	A	+	1	0	OR51I2	5431736	0.000000	0.05858	0.094000	0.20943	0.086000	0.17979	-0.437000	0.06914	1.605000	0.50152	0.655000	0.94253	GCA		0.498	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		A	5475160	G	A	5475160	3	1	198	1	0	0	0	0	1	0	0	0	11103	1319	46	2	444	2	OR51I2	11	5475160	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	1678016	5475160	129531356	28	12186											
C11orf16	56673	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	8948498	8948498	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:8948498T>A	ENST00000326053.5	-	4	654	c.548A>T	c.(547-549)gAt>gTt	p.D183V	C11orf16_ENST00000525780.1_Missense_Mutation_p.D183V|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	183								p.D183V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TCTCTGGGGATCTCTCATCTC	0.572																																																1	Substitution - Missense(1)	kidney(1)											68	66	67					11																	8948498		2201	4296	6497	SO:0001583	missense	56673			AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.548A>T	11.37:g.8948498T>A	ENSP00000318999:p.Asp183Val		Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	T	8.389	0.839190	0.16891	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.35789	1.31;1.29	5.62	0.803	0.18691	.	0.672953	0.14675	N	0.305117	T	0.41994	0.1183	L	0.43152	1.355	0.09310	N	0.999996	D;D	0.53885	0.963;0.963	P;P	0.58454	0.76;0.839	T	0.24119	-1.0169	10	0.42905	T	0.14	-16.059	8.3805	0.32468	0.0:0.2941:0.0:0.7059	.	183;183	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	V	183	ENSP00000436818:D183V;ENSP00000318999:D183V	ENSP00000318999:D183V	D	-	2	0	C11orf16	8905074	0.913000	0.31002	0.000000	0.03702	0.005000	0.04900	1.637000	0.37155	-0.105000	0.12132	-0.376000	0.06991	GAT		0.572	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		A	8948498	T	A	8948498	3	1	198	1	0	0	0	0	1	0	0	0	1633	1435	50	5	867	5	C11orf16	11	8948498	Missense_Mutation	SNP	T	TCGA-B0-5116-01A-02D-1421-08	3473338	8948498	126058018	29	12187											
SLC22A6	9356	hgsc.bcm.edu	37	11	62744692	62744693	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:62744692_62744693insG	ENST00000377871.3	-	9	1794_1795	c.1528_1529insC	c.(1528-1530)cagfs	p.Q510fs	SLC22A6_ENST00000360421.4_Frame_Shift_Ins_p.Q510fs|SLC22A6_ENST00000421062.2_Frame_Shift_Ins_p.Q466fs|SLC22A6_ENST00000458333.2_Frame_Shift_Ins_p.Q466fs|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	510					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGGCAGTGGCTGGCCCAGGGTC	0.614																																																0																																										SO:0001589	frameshift_variant	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1529dupC	11.37:g.62744694_62744694dupG	ENSP00000367102:p.Gln510fs		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Frame_Shift_Ins	INS	ENST00000377871.3	37	CCDS31591.1																																																																																				0.614	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		G	62744693	-	G	62744692	7	5	198	1	0	1	1	0	0	0	0	0	14464	1580	55	0	170	0	SLC22A6	11	62744692	Frame_Shift_Ins	INS	-	TCGA-B0-5116-01A-02D-1421-08	53796194	62744692	72261824	30	12188											
KRTAP5-9	3846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	71260168	71260168	+	Silent	SNP	C	C	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:71260168C>A	ENST00000528743.2	+	1	703	c.465C>A	c.(463-465)tcC>tcA	p.S155S		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	155	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.S155S(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGCTGCTCCCAGTCCAGAT	0.577																																																1	Substitution - coding silent(1)	kidney(1)											117	121	120					11																	71260168		2200	4293	6493	SO:0001819	synonymous_variant	3846			AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.465C>A	11.37:g.71260168C>A			Q14564|Q3MIP8	Silent	SNP	ENST00000528743.2	37	CCDS53677.1																																																																																				0.577	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			A	71260168	C	A	71260168	2	1	198	1	0	0	0	0	0	0	0	1	8570	610	22	4		4	KRTAP5-9	11	71260168	Silent	SNP	C	TCGA-B0-5116-01A-02D-1421-08	8515476	71260168	63746348	31	12189											
MCAM	4162	hgsc.bcm.edu;ucsc.edu	37	11	119182813	119182813	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:119182813delG	ENST00000264036.4	-	9	1106	c.1092delC	c.(1090-1092)accfs	p.T364fs	MCAM_ENST00000392814.1_Frame_Shift_Del_p.T313fs|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	364	Ig-like C2-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGCCTCACAGGTCAGGGTGA	0.637																																																0													45	45	45					11																	119182813		2199	4295	6494	SO:0001589	frameshift_variant	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1092delC	11.37:g.119182813delG	ENSP00000264036:p.Thr364fs		O95812|Q59E86|Q6PHR3|Q6ZTR2	Frame_Shift_Del	DEL	ENST00000264036.4	37	CCDS31690.1																																																																																				0.637	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			-	119182813	G	-	119182813	7	5	198	1	0	1	0	1	0	0	0	0	9370	987	35	0	880	0	MCAM	11	119182813	Frame_Shift_Del	DEL	G	TCGA-B0-5116-01A-02D-1421-08	47922645	119182813	15823703	32	12190											
C12orf57	113246	broad.mit.edu	37	12	7054995	7054995	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:7054995C>A	ENST00000229281.5	+	3	390	c.291C>A	c.(289-291)agC>agA	p.S97R	C12orf57_ENST00000540506.2_Missense_Mutation_p.S62R|PTPN6_ENST00000447931.2_5'Flank|RNU7-1_ENST00000458811.1_RNA|C12orf57_ENST00000542222.1_3'UTR|C12orf57_ENST00000537087.1_Missense_Mutation_p.S68R|U47924.31_ENST00000607421.1_RNA|PTPN6_ENST00000399448.1_5'Flank	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57	97						cytoplasm (GO:0005737)		p.S97R(1)		kidney(1)|large_intestine(1)	2						AGATCGCCAGCCTGTCAGGCA	0.612																																																1	Substitution - Missense(1)	kidney(1)											77	60	65					12																	7054995		2203	4300	6503	SO:0001583	missense	113246			U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017	ENST00000229281.5:c.291C>A	12.37:g.7054995C>A	ENSP00000229281:p.Ser97Arg		B2R4Q6	Missense_Mutation	SNP	ENST00000229281.5	37	CCDS8571.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493488	0.26774	.	.	ENSG00000111678	ENST00000545581;ENST00000537087;ENST00000229281	T;T;T	0.76578	-1.0;-1.03;-1.0	5.16	5.16	0.70880	.	0.107189	0.64402	D	0.000003	T	0.54679	0.1873	N	0.03324	-0.35	0.58432	D	0.999999	B	0.14012	0.009	B	0.14023	0.01	T	0.56202	-0.8018	10	0.05721	T	0.95	-15.1639	17.1818	0.86857	0.0:1.0:0.0:0.0	.	97	Q99622	C10_HUMAN	R	97;68;97	ENSP00000440602:S97R;ENSP00000440937:S68R;ENSP00000229281:S97R	ENSP00000229281:S97R	S	+	3	2	C12orf57	6925256	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.642000	0.54367	2.567000	0.86603	0.462000	0.41574	AGC		0.612	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401959.1	NM_138425		A	7054995	C	A	7054995	3	1	198	1	0	0	0	0	1	0	0	0	1703	738	26	4	301	4	C12orf57	12	7054995	Missense_Mutation	SNP	C	TCGA-B0-5116-01A-02D-1421-08		7054995	126796900	33	12191											
EPS8	2059	hgsc.bcm.edu	37	12	15784537	15784539	+	In_Frame_Del	DEL	GGA	GGA	-	rs138254263		TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:15784537_15784539delGGA	ENST00000281172.5	-	18	2317_2319	c.1881_1883delTCC	c.(1879-1884)cctcca>cca	p.627_628PP>P	EPS8_ENST00000540613.1_In_Frame_Del_p.367_368PP>P|EPS8_ENST00000543612.1_In_Frame_Del_p.627_628PP>P|EPS8_ENST00000542903.1_In_Frame_Del_p.367_368PP>P|EPS8_ENST00000543523.1_In_Frame_Del_p.627_628PP>P	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	627	Pro-rich.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.P627P(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGCTGGTGTTGGAGGAGGTGATG	0.448																																																1	Substitution - coding silent(1)	skin(1)																																								SO:0001651	inframe_deletion	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1881_1883delTCC	12.37:g.15784540_15784542delGGA	ENSP00000281172:p.Pro628del		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	In_Frame_Del	DEL	ENST00000281172.5	37	CCDS31753.1																																																																																				0.448	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			-	15784539	GGA	-	15784537	7	5	198	1	0	1	0	1	0	0	0	0	5196	1348	47	0	601	0	EPS8	12	15784537	In_Frame_Del	DEL	GGA	TCGA-B0-5116-01A-02D-1421-08	8729542	15784537	118067358	34	12192											
ALG10	84920	hgsc.bcm.edu	37	12	34179315	34179315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:34179315C>A	ENST00000266483.2	+	3	1206	c.887C>A	c.(886-888)tCa>tAa	p.S296*	RP11-847H18.2_ENST00000501954.2_RNA|AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	296					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TACTTTTTTTCATTTACTCTC	0.348																																																0													129	136	134					12																	34179315		2203	4297	6500	SO:0001587	stop_gained	84920			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"derepression of ITR1 expression 2 homolog (S. cerevisiae)", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"	603313	"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)", "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.887C>A	12.37:g.34179315C>A	ENSP00000266483:p.Ser296*		Q6NS98|Q96DU0|Q96SM6	Nonsense_Mutation	SNP	ENST00000266483.2	37	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395886	0.96009	.	.	ENSG00000139133	ENST00000266483	.	.	.	3.37	2.43	0.29744	.	0.233918	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	9.6165	0.39694	0.0:0.5813:0.4187:0.0	.	.	.	.	X	296	.	ENSP00000266483:S296X	S	+	2	0	ALG10	34070582	0.993000	0.37304	0.885000	0.34714	0.607000	0.37147	2.944000	0.49034	0.502000	0.28037	0.184000	0.17185	TCA		0.348	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		A	34179315	C	A	34179315	4	1	198	1	0	0	0	0	0	1	0	0	511	838	29	4	897	4	ALG10	12	34179315	Nonsense_Mutation	SNP	C	TCGA-B0-5116-01A-02D-1421-08	18394778	34179315	99672580	35	12193											
PPFIA2	8499	broad.mit.edu;hgsc.bcm.edu	37	12	81675111	81675111	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:81675111A>G	ENST00000549396.1	-	27	3297	c.3137T>C	c.(3136-3138)gTa>gCa	p.V1046A	PPFIA2_ENST00000407050.4_Missense_Mutation_p.V945A|PPFIA2_ENST00000333447.7_Missense_Mutation_p.V1031A|PPFIA2_ENST00000552948.1_Missense_Mutation_p.V1025A|PPFIA2_ENST00000548586.1_Missense_Mutation_p.V1040A|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.V941A|PPFIA2_ENST00000541017.1_Missense_Mutation_p.V232A|PPFIA2_ENST00000550584.2_Missense_Mutation_p.V1046A|PPFIA2_ENST00000541570.2_Missense_Mutation_p.V582A|PPFIA2_ENST00000550359.2_Missense_Mutation_p.V893A|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.V1031A	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1046	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.V1046A(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTTGCATCTACCAAGCATTC	0.393																																																1	Substitution - Missense(1)	kidney(1)											101	96	98					12																	81675111		1834	4094	5928	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3137T>C	12.37:g.81675111A>G	ENSP00000450337:p.Val1046Ala		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.432649|4.432649	0.83776|0.83776	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78065|.	0.4225|.	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	D|.	0.79108|.	0.992|.	T|.	0.80044|.	-0.1547|.	10|.	0.72032|.	D|.	0.01|.	-24.2106|-24.2106	15.7394|15.7394	0.77876|0.77876	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1046|.	O75334|.	LIPA2_HUMAN|.	A|Q	1046;1031;582;232;945;1057;1031;1040;941;1025|149	ENSP00000450337:V1046A;ENSP00000450298:V1031A;ENSP00000438337:V582A;ENSP00000445532:V232A;ENSP00000385093:V945A;ENSP00000327416:V1031A;ENSP00000449338:V1040A;ENSP00000388373:V941A;ENSP00000447868:V1025A|.	ENSP00000327416:V1031A|.	V|X	-|-	2|1	0|0	PPFIA2|PPFIA2	80199242|80199242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.221000|9.221000	0.95188|0.95188	2.183000|2.183000	0.69458|0.69458	0.397000|0.397000	0.26171|0.26171	GTA|TAG		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			G	81675111	A	G	81675111	3	3	198	1	0	0	0	0	1	0	0	0	12312	391	14	3	660	3	PPFIA2	12	81675111	Missense_Mutation	SNP	A	TCGA-B0-5116-01A-02D-1421-08	47495796	81675111	52176784	36	12194											
GLT8D2	83468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104390596	104390596	+	Silent	SNP	A	A	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:104390596A>G	ENST00000360814.4	-	8	922	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	GLT8D2_ENST00000548660.1_Silent_p.L173L|GLT8D2_ENST00000546436.1_Silent_p.L173L	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	173						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L173L(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CCCAGGGCCAAGGTGGTGTCA	0.478																																																1	Substitution - coding silent(1)	kidney(1)											97	99	98					12																	104390596		2203	4300	6503	SO:0001819	synonymous_variant	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.517T>C	12.37:g.104390596A>G			Q96KA2	Silent	SNP	ENST00000360814.4	37	CCDS9096.1																																																																																				0.478	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		G	104390596	A	G	104390596	2	3	198	1	0	0	0	0	0	0	0	1	6472	69	3	3		3	GLT8D2	12	104390596	Silent	SNP	A	TCGA-B0-5116-01A-02D-1421-08	22715485	104390596	29461299	37	12195											
ALKBH2	121642	broad.mit.edu	37	12	109530325	109530325	+	Silent	SNP	T	T	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:109530325T>A	ENST00000429722.2	-	2	630	c.267A>T	c.(265-267)gtA>gtT	p.V89V	ALKBH2_ENST00000343075.3_Silent_p.V89V|ALKBH2_ENST00000440112.2_Silent_p.V89V	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	89					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)	p.V89V(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TAAAATATTCTACTTCTTTCT	0.473								Direct reversal of damage																																								1	Substitution - coding silent(1)	kidney(1)											59	55	56					12																	109530325		2203	4300	6503	SO:0001819	synonymous_variant	121642			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"Alkylation repair homologs"	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.267A>T	12.37:g.109530325T>A			A4PET2|Q5XLE3	Silent	SNP	ENST00000429722.2	37	CCDS31897.1																																																																																				0.473	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		A	109530325	T	A	109530325	2	1	198	1	0	0	0	0	0	0	0	1	527	1509	53	5		5	ALKBH2	12	109530325	Silent	SNP	T	TCGA-B0-5116-01A-02D-1421-08	5139729	109530325	24321570	38	12196											
ALKBH2	121642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109530381	109530381	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:109530381C>T	ENST00000429722.2	-	2	574	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	ALKBH2_ENST00000343075.3_Missense_Mutation_p.V71I|ALKBH2_ENST00000440112.2_Missense_Mutation_p.V71I	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	71					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)	p.V71I(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCAAACAGGACTGTGTAACTG	0.542								Direct reversal of damage																																								1	Substitution - Missense(1)	kidney(1)											115	116	116					12																	109530381		2203	4300	6503	SO:0001583	missense	121642			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"Alkylation repair homologs"	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.211G>A	12.37:g.109530381C>T	ENSP00000398181:p.Val71Ile		A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	9.706	1.155810	0.21454	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T;T	0.23552	1.9;1.9;2.58	5.76	1.85	0.25348	.	0.436673	0.24735	N	0.036022	T	0.11452	0.0279	N	0.16743	0.435	0.09310	N	0.999997	B;B	0.27351	0.176;0.0	B;B	0.23419	0.046;0.002	T	0.17107	-1.0380	10	0.37606	T	0.19	-15.4134	1.7861	0.03042	0.1284:0.4013:0.2503:0.2199	.	71;71	A4PET2;Q6NS38	.;ALKB2_HUMAN	I	71	ENSP00000398181:V71I;ENSP00000343021:V71I;ENSP00000444103:V71I	ENSP00000343021:V71I	V	-	1	0	ALKBH2	108014764	0.001000	0.12720	0.015000	0.15790	0.017000	0.09413	-0.186000	0.09670	0.068000	0.16574	0.563000	0.77884	GTC		0.542	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		T	109530381	C	T	109530381	3	4	198	1	0	0	0	0	1	0	0	0	527	565	20	2	586	2	ALKBH2	12	109530381	Missense_Mutation	SNP	C	TCGA-B0-5116-01A-02D-1421-08	56	109530381	24321514	39	12197											
OR4K2	390431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	20344686	20344686	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr14:20344686C>G	ENST00000298642.2	+	1	296	c.260C>G	c.(259-261)aCa>aGa	p.T87R		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T87R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATTACCTAACAGGTCACAAA	0.413																																																1	Substitution - Missense(1)	kidney(1)											237	236	236					14																	20344686		2203	4300	6503	SO:0001583	missense	390431				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.260C>G	14.37:g.20344686C>G	ENSP00000298642:p.Thr87Arg		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.158264	0.00321	.	.	ENSG00000165762	ENST00000298642	T	0.00468	7.22	5.27	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.523740	0.16304	N	0.220301	T	0.00178	0.0005	N	0.11673	0.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38394	-0.9663	10	0.02654	T	1	.	5.0431	0.14469	0.0:0.4793:0.3288:0.1918	.	87	Q8NGD2	OR4K2_HUMAN	R	87	ENSP00000298642:T87R	ENSP00000298642:T87R	T	+	2	0	OR4K2	19414526	0.000000	0.05858	0.897000	0.35233	0.439000	0.31926	-0.543000	0.06084	0.714000	0.32081	0.563000	0.77884	ACA		0.413	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			G	20344686	C	G	20344686	3	3	198	1	0	0	0	0	1	0	0	0	11074	478	17	4	262	4	OR4K2	14	20344686	Missense_Mutation	SNP	C	TCGA-B0-5116-01A-02D-1421-08		20344686	87004854	40	12198											
OR4K1	79544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	20403917	20403917	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr14:20403917T>C	ENST00000285600.4	+	1	151	c.92T>C	c.(91-93)tTc>tCc	p.F31S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F31S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTGCCATCTTCTCTATAGTC	0.378																																																1	Substitution - Missense(1)	kidney(1)											345	377	366					14																	20403917		2203	4300	6503	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.92T>C	14.37:g.20403917T>C	ENSP00000285600:p.Phe31Ser		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.344102	0.41498	.	.	ENSG00000155249	ENST00000285600	T	0.04551	3.6	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000013	T	0.18002	0.0432	M	0.75447	2.3	0.24403	N	0.994698	D	0.89917	1.0	D	0.97110	1.0	T	0.09100	-1.0690	10	0.22109	T	0.4	.	12.2701	0.54702	0.0:0.0:0.0:1.0	.	31	Q8NGD4	OR4K1_HUMAN	S	31	ENSP00000285600:F31S	ENSP00000285600:F31S	F	+	2	0	OR4K1	19473757	0.976000	0.34144	0.844000	0.33320	0.382000	0.30200	4.906000	0.63293	2.008000	0.58898	0.459000	0.35465	TTC		0.378	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			C	20403917	T	C	20403917	3	2	198	1	0	0	0	0	1	0	0	0	11069	1783	62	3	94	3	OR4K1	14	20403917	Missense_Mutation	SNP	T	TCGA-B0-5116-01A-02D-1421-08	59231	20403917	86945623	41	12199											
KCNH5	27133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	63447836	63447836	+	Silent	SNP	A	A	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr14:63447836A>T	ENST00000322893.7	-	6	964	c.696T>A	c.(694-696)gtT>gtA	p.V232V	KCNH5_ENST00000394968.1_Silent_p.V174V|KCNH5_ENST00000420622.2_Silent_p.V232V|KCNH5_ENST00000394964.2_Silent_p.V174V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	232					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.V232V(1)|p.V174V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATTATAAGGAACCATAATGG	0.378																																																2	Substitution - coding silent(2)	kidney(2)											78	79	79					14																	63447836		2203	4300	6503	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.696T>A	14.37:g.63447836A>T			C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																				0.378	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63447836	A	T	63447836	2	4	198	1	0	0	0	0	0	0	0	1	8037	233	9	5		5	KCNH5	14	63447836	Silent	SNP	A	TCGA-B0-5116-01A-02D-1421-08	43043919	63447836	43901704	42	12200											
DCAF5	8816	broad.mit.edu;hgsc.bcm.edu	37	14	69589045	69589045	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr14:69589045T>C	ENST00000341516.5	-	2	394	c.247A>G	c.(247-249)Atg>Gtg	p.M83V	DCAF5_ENST00000557386.1_Missense_Mutation_p.M83V|DCAF5_ENST00000556847.1_Start_Codon_SNP_p.M1V|DCAF5_ENST00000554215.1_Start_Codon_SNP_p.M1V|DCAF5_ENST00000389997.6_Missense_Mutation_p.M83V	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	83					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.M83V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCTTGTTCCATGTGCCATAGC	0.478																																																1	Substitution - Missense(1)	kidney(1)											131	112	119					14																	69589045		2203	4300	6503	SO:0001583	missense	8816			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.247A>G	14.37:g.69589045T>C	ENSP00000341351:p.Met83Val		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089499	0.36855	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386;ENST00000389997;ENST00000554681	T;T;T;T;T;T	0.71103	1.74;-0.54;-0.54;1.74;1.74;-0.03	5.67	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.042023	0.85682	N	0.000000	T	0.50171	0.1600	N	0.24115	0.695	0.47584	D	0.999462	B;B;B;B	0.16166	0.0;0.002;0.016;0.01	B;B;B;B	0.11329	0.001;0.001;0.006;0.004	T	0.41233	-0.9520	10	0.02654	T	1	-6.0144	10.2687	0.43470	0.0:0.0748:0.0:0.9252	.	1;83;83;83	G3V3S1;Q8TBB7;G3V4J7;Q96JK2	.;.;.;DCAF5_HUMAN	V	83;1;1;83;83;1	ENSP00000341351:M83V;ENSP00000451551:M1V;ENSP00000452052:M1V;ENSP00000451845:M83V;ENSP00000374647:M83V;ENSP00000451394:M1V	ENSP00000341351:M83V	M	-	1	0	DCAF5	68658798	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.772000	0.68889	0.979000	0.38497	-0.256000	0.11100	ATG		0.478	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		C	69589045	T	C	69589045	3	2	198	1	0	0	0	0	1	0	0	0	4275	1464	51	3	2613	3	DCAF5	14	69589045	Missense_Mutation	SNP	T	TCGA-B0-5116-01A-02D-1421-08	6141209	69589045	37760495	43	12201											
SPTBN5	51332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42147094	42147094	+	Silent	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr15:42147094C>T	ENST00000320955.6	-	56	9731	c.9504G>A	c.(9502-9504)ttG>ttA	p.L3168L	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3168					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.L3168L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGGTGCCTGCCAACTTCCTCA	0.582																																																1	Substitution - coding silent(1)	kidney(1)											61	64	63					15																	42147094		1936	4137	6073	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9504G>A	15.37:g.42147094C>T				Silent	SNP	ENST00000320955.6	37																																																																																					0.582	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		T	42147094	C	T	42147094	2	4	198	1	0	0	0	0	0	0	0	1	15127	593	21	2		2	SPTBN5	15	42147094	Silent	SNP	C	TCGA-B0-5116-01A-02D-1421-08		42147094	60384298	44	12202											
USP50	373509	broad.mit.edu;hgsc.bcm.edu	37	15	50833303	50833303	+	Silent	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr15:50833303G>A	ENST00000532404.1	-	4	776	c.603C>T	c.(601-603)aaC>aaT	p.N201N	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	206	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.N206N(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TGAAGACTTCGTTCTTGTAGG	0.438																																																1	Substitution - coding silent(1)	kidney(1)											147	141	143					15																	50833303		1948	4147	6095	SO:0001819	synonymous_variant	373509			AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"Ubiquitin-specific peptidases"	20079	protein-coding gene	gene with protein product			"ubiquitin specific protease 50"			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.603C>T	15.37:g.50833303G>A			E9PP86	Silent	SNP	ENST00000532404.1	37	CCDS53944.1																																																																																				0.438	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			A	50833303	G	A	50833303	2	1	198	1	0	0	0	0	0	0	0	1	17087	1136	40	1		1	USP50	15	50833303	Silent	SNP	G	TCGA-B0-5116-01A-02D-1421-08	8686209	50833303	51698089	45	12203											
CORO2B	10391	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	69006276	69006276	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr15:69006276delA	ENST00000566799.1	+	6	690	c.661delA	c.(661-663)aaafs	p.K221fs	CORO2B_ENST00000543950.1_Frame_Shift_Del_p.K216fs|CORO2B_ENST00000540068.1_Frame_Shift_Del_p.K216fs|CORO2B_ENST00000261861.5_Frame_Shift_Del_p.K216fs			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	221					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGCCAACTGCAAAAACCACAG	0.567																																																0													79	64	69					15																	69006276		2200	4298	6498	SO:0001589	frameshift_variant	10391			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.661delA	15.37:g.69006276delA	ENSP00000454783:p.Lys221fs		A8K0W3|O94767|Q8TAN1	Frame_Shift_Del	DEL	ENST00000566799.1	37	CCDS10229.2																																																																																				0.567	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		-	69006276	A	-	69006276	7	5	198	1	0	1	0	1	0	0	0	0	3759	131	5	0	683	0	CORO2B	15	69006276	Frame_Shift_Del	DEL	A	TCGA-B0-5116-01A-02D-1421-08	18172973	69006276	33525116	46	12204											
RBBP6	5930	hgsc.bcm.edu;ucsc.edu	37	16	24551961	24551962	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr16:24551961_24551962insT	ENST00000319715.4	+	1	446_447	c.14_15insT	c.(13-18)cattatfs	p.Y6fs	RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.Y6fs|RBBP6_ENST00000381039.3_Frame_Shift_Ins_p.Y6fs|RBBP6_ENST00000452655.2_Frame_Shift_Ins_p.Y6fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	6	DWNN. {ECO:0000255|PROSITE- ProRule:PRU00612}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCCTGTGTGCATTATAAATTTT	0.416																																																0																																										SO:0001589	frameshift_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.16dupT	16.37:g.24551963_24551963dupT	ENSP00000317872:p.Tyr6fs		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Ins	INS	ENST00000319715.4	37	CCDS10621.1																																																																																				0.416	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		T	24551962	-	T	24551961	7	5	198	1	0	1	1	0	0	0	0	0	13109	217	8	0	16	0	RBBP6	16	24551961	Frame_Shift_Ins	INS	-	TCGA-B0-5116-01A-02D-1421-08		24551961	65802792	47	12205											
SLC12A3	6559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	56904064	56904064	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr16:56904064G>T	ENST00000563236.1	+	5	683	c.658G>T	c.(658-660)Ggc>Tgc	p.G220C	SLC12A3_ENST00000438926.2_Missense_Mutation_p.G220C|SLC12A3_ENST00000566786.1_Missense_Mutation_p.G219C|SLC12A3_ENST00000262502.5_Missense_Mutation_p.G219C			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	220					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.G220C(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGGCTCCATCGGCCTCATTTT	0.632																																																1	Substitution - Missense(1)	kidney(1)											75	75	75					16																	56904064		2198	4300	6498	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.658G>T	16.37:g.56904064G>T	ENSP00000456149:p.Gly220Cys		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.962009	0.53400	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.26	4.3	0.51218	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.87684	0.6239	H	0.97611	4.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91563	0.5266	9	0.87932	D	0	.	14.0037	0.64449	0.073:0.0:0.927:0.0	.	219;220;220	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	C	219;220	.	ENSP00000262502:G220C	G	+	1	0	SLC12A3	55461565	1.000000	0.71417	0.967000	0.41034	0.005000	0.04900	9.751000	0.98889	1.215000	0.43411	0.462000	0.41574	GGC		0.632	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			T	56904064	G	T	56904064	3	4	198	1	0	0	0	0	1	0	0	0	14390	1116	39	4	676	4	SLC12A3	16	56904064	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	32352103	56904064	33450689	48	12206											
CDRT1	374286	broad.mit.edu;hgsc.bcm.edu	37	17	15516051	15516051	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr17:15516051C>T	ENST00000395906.3	-	5	1085	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.M672I	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	362								p.M362I(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GTTTCACACGCATGCTCTTCC	0.448																																																2	Substitution - Missense(2)	kidney(2)											188	189	189					17																	15516051		2203	4300	6503	SO:0001583	missense	374286			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1086G>A	17.37:g.15516051C>T	ENSP00000379242:p.Met362Ile		O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.37|10.37	1.332048|1.332048	0.24167|0.24167	.|.	.|.	ENSG00000251537|ENSG00000251537	ENST00000455584|ENST00000261644;ENST00000395906	.|T	.|0.18810	.|2.19	5.34|5.34	-10.1|-10.1	0.00402|0.00402	.|F-box domain, Skp2-like (1);	.|1.747040	.|0.03734	.|N	.|0.254018	T|T	0.04092|0.04092	0.0114|0.0114	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.29427|0.29427	-1.0012|-1.0012	5|10	.|0.21014	.|T	.|0.42	.|.	1.5117|1.5117	0.02497|0.02497	0.3327:0.1216:0.1213:0.4244|0.3327:0.1216:0.1213:0.4244	.|.	.|362;686	.|O95170;Q59EB2	.|CDRT1_HUMAN;.	Y|I	687|392;362	.|ENSP00000379242:M362I	.|ENSP00000261644:M392I	C|M	-|-	2|3	0|0	RP11-385D13.1|RP11-385D13.1	15456776|15456776	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-3.239000|-3.239000	0.00544|0.00544	-1.354000|-1.354000	0.02188|0.02188	0.555000|0.555000	0.69702|0.69702	TGC|ATG		0.448	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		T	15516051	C	T	15516051	3	4	198	1	0	0	0	0	1	0	0	0	3176	710	25	2	1204	2	CDRT1	17	15516051	Missense_Mutation	SNP	C	TCGA-B0-5116-01A-02D-1421-08		15516051	65679159	49	12207											
C17orf47	284083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56620725	56620725	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr17:56620725G>A	ENST00000321691.3	-	1	1004	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	275								p.L275F(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGACAGAGAGTTTGAGCAAT	0.453																																																1	Substitution - Missense(1)	kidney(1)											98	95	96					17																	56620725		2203	4300	6503	SO:0001583	missense	284083				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.823C>T	17.37:g.56620725G>A	ENSP00000354874:p.Leu275Phe		Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151461	0.57151	.	.	ENSG00000181013	ENST00000321691	T	0.39406	1.08	5.46	-2.44	0.06502	.	0.638943	0.14627	N	0.308032	T	0.25531	0.0621	L	0.29908	0.895	0.09310	N	1	B	0.23735	0.09	B	0.26310	0.068	T	0.18429	-1.0337	10	0.51188	T	0.08	-2.2747	5.5262	0.16959	0.3305:0.3136:0.3559:0.0	.	275	Q8NEP4	CQ047_HUMAN	F	275	ENSP00000354874:L275F	ENSP00000354874:L275F	L	-	1	0	C17orf47	53975724	0.090000	0.21635	0.299000	0.25016	0.162000	0.22319	-0.221000	0.09202	-0.232000	0.09811	0.563000	0.77884	CTC		0.453	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		A	56620725	G	A	56620725	3	1	198	1	0	0	0	0	1	0	0	0	1860	1029	36	2	897	2	C17orf47	17	56620725	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	41104674	56620725	24574485	50	12208											
MUC16	94025	broad.mit.edu;ucsc.edu	37	19	9077024	9077024	+	Silent	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr19:9077024G>A	ENST00000397910.4	-	3	10625	c.10422C>T	c.(10420-10422)ctC>ctT	p.L3474L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3475	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L3474L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGATTGGTGAGGCTTGTAA	0.488																																																2	Substitution - coding silent(2)	kidney(2)											118	114	115					19																	9077024		2085	4226	6311	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10422C>T	19.37:g.9077024G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9077024	G	A	9077024	2	1	198	1	0	0	0	0	0	0	0	1	9975	1277	45	2		2	MUC16	19	9077024	Silent	SNP	G	TCGA-B0-5116-01A-02D-1421-08		9077024	50051959	51	12209											
ZNF561	93134	broad.mit.edu;hgsc.bcm.edu	37	19	9720930	9720930	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr19:9720930T>A	ENST00000302851.3	-	6	1770	c.1407A>T	c.(1405-1407)agA>agT	p.R469S	ZNF561_ENST00000424629.1_Missense_Mutation_p.R400S|ZNF561_ENST00000354661.4_Missense_Mutation_p.R333S|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R400S(1)|p.R469S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CAGTGTGAATTCTTTCATGTC	0.413																																																2	Substitution - Missense(2)	kidney(2)											92	86	88					19																	9720930		2203	4300	6503	SO:0001583	missense	93134			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"Zinc fingers, C2H2-type", "-"	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1407A>T	19.37:g.9720930T>A	ENSP00000303915:p.Arg469Ser		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343908	0.61073	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.24151	1.87;1.87;1.87	1.03	1.03	0.20045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38026	0.1025	M	0.67569	2.06	0.27299	N	0.957647	D	0.69078	0.997	P	0.57720	0.826	T	0.15407	-1.0438	9	0.66056	D	0.02	.	6.2346	0.20756	0.0:0.0:0.0:1.0	.	469	Q8N587	ZN561_HUMAN	S	400;469;333	ENSP00000393074:R400S;ENSP00000303915:R469S;ENSP00000346687:R333S	ENSP00000303915:R469S	R	-	3	2	ZNF561	9581930	0.000000	0.05858	0.057000	0.19452	0.594000	0.36715	-2.714000	0.00815	0.719000	0.32188	0.155000	0.16302	AGA		0.413	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		A	9720930	T	A	9720930	3	1	198	1	0	0	0	0	1	0	0	0	17997	1780	62	5	57	5	ZNF561	19	9720930	Missense_Mutation	SNP	T	TCGA-B0-5116-01A-02D-1421-08	643906	9720930	49408053	52	12210											
CHST8	64377	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	34263556	34263556	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr19:34263556T>A	ENST00000262622.4	+	4	1621	c.863T>A	c.(862-864)cTg>cAg	p.L288Q	CHST8_ENST00000434302.1_Missense_Mutation_p.L288Q|CHST8_ENST00000438847.3_Missense_Mutation_p.L288Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	288					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.L288Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AAGGCCATCCTGGCCCGGTAC	0.657																																																1	Substitution - Missense(1)	kidney(1)											72	69	70					19																	34263556		2203	4300	6503	SO:0001583	missense	64377			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.863T>A	19.37:g.34263556T>A	ENSP00000262622:p.Leu288Gln		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291810	0.59976	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74526	-0.85;-0.85;-0.85	5.15	5.15	0.70609	.	0.171638	0.34067	N	0.004290	T	0.77974	0.4211	L	0.31371	0.925	0.36570	D	0.872947	D	0.64830	0.994	D	0.66351	0.943	T	0.83328	-0.0014	10	0.59425	D	0.04	-25.9874	14.1557	0.65417	0.0:0.0:0.0:1.0	.	288	Q9H2A9	CHST8_HUMAN	Q	288	ENSP00000392604:L288Q;ENSP00000393879:L288Q;ENSP00000262622:L288Q	ENSP00000262622:L288Q	L	+	2	0	CHST8	38955396	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	6.248000	0.72418	1.945000	0.56424	0.247000	0.18012	CTG		0.657	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		A	34263556	T	A	34263556	3	1	198	1	0	0	0	0	1	0	0	0	3412	1580	55	5	873	5	CHST8	19	34263556	Missense_Mutation	SNP	T	TCGA-B0-5116-01A-02D-1421-08	24542626	34263556	24865427	53	12211											
ATP4A	495	broad.mit.edu;ucsc.edu	37	19	36054147	36054147	+	Silent	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr19:36054147C>T	ENST00000262623.3	-	3	208	c.180G>A	c.(178-180)gcG>gcA	p.A60A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	60					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.A60A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GTTCCAGCTCCGCCACTGACA	0.642																																																1	Substitution - coding silent(1)	kidney(1)											177	171	173					19																	36054147		2203	4300	6503	SO:0001819	synonymous_variant	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.180G>A	19.37:g.36054147C>T			O00738	Silent	SNP	ENST00000262623.3	37	CCDS12467.1																																																																																				0.642	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		T	36054147	C	T	36054147	2	4	198	1	0	0	0	0	0	0	0	1	1145	639	23	1		1	ATP4A	19	36054147	Silent	SNP	C	TCGA-B0-5116-01A-02D-1421-08	1790591	36054147	23074836	54	12212											
RELB	5971	broad.mit.edu;hgsc.bcm.edu	37	19	45515352	45515352	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr19:45515352G>T	ENST00000221452.8	+	4	472	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	RELB_ENST00000505236.1_Missense_Mutation_p.G105C|RELB_ENST00000540120.1_Missense_Mutation_p.G108C	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	108					antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G108C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCCGCCTTGGGGCTGCCCCCT	0.776																																																1	Substitution - Missense(1)	kidney(1)											4	4	4					19																	45515352		1493	3340	4833	SO:0001583	missense	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.322G>T	19.37:g.45515352G>T	ENSP00000221452:p.Gly108Cys		Q6GTX7|Q9UEI7	Silent	SNP	ENST00000221452.8	37	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965230	0.34659	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.50813	0.73;0.73;0.73	3.38	1.16	0.20824	.	0.785356	0.11062	N	0.603827	T	0.23766	0.0575	N	0.08118	0	0.26319	N	0.977707	B	0.06786	0.001	B	0.04013	0.001	T	0.17684	-1.0361	10	0.59425	D	0.04	-6.709	3.4539	0.07509	0.1401:0.0:0.6086:0.2513	.	105	D6R992	.	C	108;108;105	ENSP00000221452:G108C;ENSP00000445542:G108C;ENSP00000423287:G105C	ENSP00000221452:G108C	G	+	1	0	RELB	50207192	0.004000	0.15560	0.991000	0.47740	0.736000	0.42039	-0.947000	0.03901	0.393000	0.25203	0.462000	0.41574	GGC		0.776	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			T	45515352	G	T	45515352	3	4	198	1	0	0	0	0	1	0	0	0	13223	1232	43	4	328	4	RELB	19	45515352	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	9461205	45515352	13613631	55	12213											
MRPS26	64949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3028493	3028493	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr20:3028493G>C	ENST00000380325.3	+	4	720	c.596G>C	c.(595-597)aGg>aCg	p.R199T		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	199					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R199T(1)		kidney(1)|lung(1)	2						CTGGTGGTCAGGCCACAACGC	0.587																																																1	Substitution - Missense(1)	kidney(1)											56	47	50					20																	3028493		2203	4300	6503	SO:0001583	missense	64949			AB051354	CCDS13043.1	20p13	2012-09-13	2004-09-22		ENSG00000125901	ENSG00000125901		"Mitochondrial ribosomal proteins / small subunits"	14045	protein-coding gene	gene with protein product		611988	"chromosome 20 open reading frame 193"	C20orf193		11543634	Standard	NM_030811		Approved	MRP-S13, MRP-S26, RPMS13, dJ534B8.3	uc002whs.3	Q9BYN8	OTTHUMG00000031721	ENST00000380325.3:c.596G>C	20.37:g.3028493G>C	ENSP00000369682:p.Arg199Thr		Q96Q58	Missense_Mutation	SNP	ENST00000380325.3	37	CCDS13043.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558725	0.27827	.	.	ENSG00000125901	ENST00000380325	.	.	.	5.74	0.423	0.16463	.	0.276491	0.33813	N	0.004538	T	0.29817	0.0745	L	0.45581	1.43	0.09310	N	1	B	0.18166	0.026	B	0.19391	0.025	T	0.19031	-1.0318	9	0.52906	T	0.07	-7.4077	4.1605	0.10282	0.337:0.3244:0.3386:0.0	.	199	Q9BYN8	RT26_HUMAN	T	199	.	ENSP00000369682:R199T	R	+	2	0	MRPS26	2976493	0.090000	0.21635	0.436000	0.26797	0.483000	0.33249	0.114000	0.15520	0.078000	0.16900	0.591000	0.81541	AGG		0.587	MRPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077692.2	NM_030811		C	3028493	G	C	3028493	3	2	198	1	0	0	0	0	1	0	0	0	9839	1000	35	4	610	4	MRPS26	20	3028493	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08		3028493	59997027	56	12214											
ACSS2	55902	broad.mit.edu	37	20	33508376	33508376	+	Missense_Mutation	SNP	A	A	G	rs375929217		TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr20:33508376A>G	ENST00000360596.2	+	9	1218	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.Y349C|ACSS2_ENST00000336325.4_Missense_Mutation_p.Y286C	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	336					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.Y349C(1)|p.Y336C(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TACATGCTCTATGTAGCCACA	0.517																																																2	Substitution - Missense(2)	kidney(2)						A	CYS/TYR,CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	172	135	148		1046,722,1007	5.2	1	20		148	0,8600		0,0,4300	no	missense,missense,missense	ACSS2	NM_001076552.2,NM_001242393.1,NM_018677.3	194,194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	349/715,241/607,336/702	33508376	1,13005	2203	4300	6503	SO:0001583	missense	55902			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1007A>G	20.37:g.33508376A>G	ENSP00000353804:p.Tyr336Cys		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015787	0.54468	2.27E-4	0.0	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.41400	1.0;1.0;1.0	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.72494	-0.4276	10	0.87932	D	0	-15.3285	10.8709	0.46883	0.8003:0.0:0.0:0.1997	.	349;336	Q5QPH3;Q9NR19	.;ACSA_HUMAN	C	286;336;334;44;349	ENSP00000337190:Y286C;ENSP00000353804:Y336C;ENSP00000253382:Y349C	ENSP00000253382:Y349C	Y	+	2	0	ACSS2	32972037	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.210000	0.51129	2.192000	0.70111	0.533000	0.62120	TAT		0.517	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		G	33508376	A	G	33508376	3	3	198	1	0	0	0	0	1	0	0	0	189	449	16	3	1084	3	ACSS2	20	33508376	Missense_Mutation	SNP	A	TCGA-B0-5116-01A-02D-1421-08	30479883	33508376	29517144	57	12215											
KIAA0406	9675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	36634747	36634747	+	Silent	SNP	T	T	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr20:36634747T>C	ENST00000373448.2	-	4	2593	c.2355A>G	c.(2353-2355)ttA>ttG	p.L785L	TTI1_ENST00000373447.3_Silent_p.L785L|TTI1_ENST00000449821.1_Silent_p.L785L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	785					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L785L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCTCTTCTCCTAAACTTTGCT	0.453																																																1	Substitution - coding silent(1)	kidney(1)											179	163	168					20																	36634747		2203	4300	6503	SO:0001819	synonymous_variant	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2355A>G	20.37:g.36634747T>C			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	CCDS13300.1																																																																																				0.453	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		C	36634747	T	C	36634747	2	2	198	1	0	0	0	0	0	0	0	1	8175	1519	53	3		3	KIAA0406	20	36634747	Silent	SNP	T	TCGA-B0-5116-01A-02D-1421-08	3126371	36634747	26390773	58	12216											
C21orf45	54069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33642768	33642768	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr21:33642768A>C	ENST00000290130.3	-	3	528	c.474T>G	c.(472-474)aaT>aaG	p.N158K	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	158					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.N158K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TGTAATCAAGATTCTTGGGCG	0.423																																																1	Substitution - Missense(1)	kidney(1)											94	83	87					21																	33642768		2203	4300	6503	SO:0001583	missense	0			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.474T>G	21.37:g.33642768A>C	ENSP00000290130:p.Asn158Lys		B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	A	4.030	0.003029	0.07866	.	.	ENSG00000159055	ENST00000290130	.	.	.	5.78	-3.94	0.04130	.	1.060650	0.07249	N	0.865601	T	0.22282	0.0537	L	0.38531	1.155	0.09310	N	1	P	0.38504	0.634	B	0.31101	0.124	T	0.17992	-1.0351	9	0.36615	T	0.2	-0.4897	8.6454	0.34003	0.2452:0.0:0.6223:0.1325	.	158	Q9NYP9	MS18A_HUMAN	K	158	.	ENSP00000290130:N158K	N	-	3	2	MIS18A	32564639	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-0.767000	0.04720	-0.725000	0.04901	0.454000	0.30748	AAT		0.423	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		C	33642768	A	C	33642768	3	2	198	1	0	0	0	0	1	0	0	0	2128	330	12	5	239	5	C21orf45	21	33642768	Missense_Mutation	SNP	A	TCGA-B0-5116-01A-02D-1421-08		33642768	14487127	59	12217											
C21orf29	54084	broad.mit.edu	37	21	45950936	45950936	+	Missense_Mutation	SNP	C	C	A	rs200994878		TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr21:45950936C>A	ENST00000323084.4	-	4	688	c.623G>T	c.(622-624)gGc>gTc	p.G208V	TSPEAR_ENST00000397916.1_Missense_Mutation_p.G140V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	208	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.G208V(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CATGAACAGGCCTTTGGCTCT	0.582																																																1	Substitution - Missense(1)	kidney(1)											74	59	64					21																	45950936		2203	4300	6503	SO:0001583	missense	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.623G>T	21.37:g.45950936C>A	ENSP00000321987:p.Gly208Val			Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568097	0.45798	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.02682	4.2;4.2	4.44	4.44	0.53790	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.101569	0.64402	D	0.000002	T	0.13884	0.0336	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.00243	-1.1884	10	0.66056	D	0.02	11.2173	12.5699	0.56331	0.0:1.0:0.0:0.0	.	208	Q8WU66	TSEAR_HUMAN	V	208;140;208	ENSP00000321987:G208V;ENSP00000381012:G140V	ENSP00000321987:G208V	G	-	2	0	TSPEAR	44775364	1.000000	0.71417	0.595000	0.28798	0.081000	0.17604	5.284000	0.65627	2.018000	0.59344	0.563000	0.77884	GGC		0.582	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		A	45950936	C	A	45950936	3	1	198	1	0	0	0	0	1	0	0	0	2126	739	26	4	1422	4	C21orf29	21	45950936	Missense_Mutation	SNP	C	TCGA-B0-5116-01A-02D-1421-08	12308168	45950936	2178959	60	12218											
SLC25A14	9016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129499647	129499647	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chrX:129499647A>C	ENST00000218197.5	+	8	1079	c.852A>C	c.(850-852)ttA>ttC	p.L284F	SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.L281F|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Missense_Mutation_p.L312F	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	284					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.L284F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						ATGGTATTTTAAAGGTAAGTA	0.418																																																1	Substitution - Missense(1)	kidney(1)											263	244	250					X																	129499647		2203	4300	6503	SO:0001583	missense	9016			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"Solute carriers"	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.852A>C	X.37:g.129499647A>C	ENSP00000218197:p.Leu284Phe		D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463882	0.26335	.	.	ENSG00000102078	ENST00000218197;ENST00000361980;ENST00000339231	T;T;T	0.79454	-1.27;-1.27;-1.27	5.06	-1.43	0.08884	Mitochondrial carrier domain (2);	0.123625	0.53938	D	0.000054	T	0.65923	0.2738	L	0.43598	1.365	0.80722	D	1	B;B;B	0.19445	0.036;0.02;0.025	B;B;B	0.21151	0.029;0.02;0.033	T	0.52704	-0.8540	10	0.34782	T	0.22	-11.3798	10.798	0.46472	0.4489:0.0:0.5511:0.0	.	312;281;284	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	F	284;281;312	ENSP00000218197:L284F;ENSP00000354455:L281F;ENSP00000342797:L312F	ENSP00000218197:L284F	L	+	3	2	SLC25A14	129327328	0.997000	0.39634	0.980000	0.43619	0.426000	0.31534	0.324000	0.19610	-0.263000	0.09378	-0.368000	0.07277	TTA		0.418	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		C	129499647	A	C	129499647	3	2	198	1	0	0	0	0	1	0	0	0	14482	359	13	5	882	5	SLC25A14	23	129499647	Missense_Mutation	SNP	A	TCGA-B0-5116-01A-02D-1421-08		129499647	25770913	61	12219											
CCDC160	347475	broad.mit.edu;hgsc.bcm.edu	37	X	133379666	133379666	+	Missense_Mutation	SNP	G	G	T	rs200917250		TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chrX:133379666G>T	ENST00000517294.1	+	3	1219	c.836G>T	c.(835-837)aGt>aTt	p.S279I	CCDC160_ENST00000370809.4_Missense_Mutation_p.S279I			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	279								p.S279I(1)|p.S279N(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GGAGAGCTCAGTGTCATCAAG	0.383																																																2	Substitution - Missense(2)	kidney(2)											42	38	39					X																	133379666		1837	4073	5910	SO:0001583	missense	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.836G>T	X.37:g.133379666G>T	ENSP00000427951:p.Ser279Ile			Missense_Mutation	SNP	ENST00000517294.1	37	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	G	1.875	-0.459336	0.04508	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	D;D	0.90844	-2.74;-2.74	5.29	-1.73	0.08081	.	1.068870	0.07308	N	0.875388	T	0.76300	0.3968	N	0.08118	0	0.09310	N	1	P	0.34546	0.456	B	0.29862	0.108	T	0.65376	-0.6183	10	0.39692	T	0.17	-0.7691	4.9933	0.14226	0.4906:0.266:0.2434:0.0	.	279	A6NGH7	CC160_HUMAN	I	279	ENSP00000427951:S279I;ENSP00000359845:S279I	ENSP00000359845:S279I	S	+	2	0	CCDC160	133207332	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.618000	0.24373	-0.644000	0.05465	-1.427000	0.01099	AGT		0.383	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357		T	133379666	G	T	133379666	3	4	198	1	0	0	0	0	1	0	0	0	2794	1029	36	4	838	4	CCDC160	23	133379666	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	3880019	133379666	21890894	62	12220											
MAGEC1	9947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	140995587	140995587	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chrX:140995587G>C	ENST00000285879.4	+	4	2683	c.2397G>C	c.(2395-2397)caG>caC	p.Q799H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	799								p.Q799H(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTCCTCAGAGTCCTCCTG	0.567										HNSCC(15;0.026)																																						2	Substitution - Missense(2)	lung(1)|kidney(1)											131	142	138					X																	140995587		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2397G>C	X.37:g.140995587G>C	ENSP00000285879:p.Gln799His		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	7.441	0.640649	0.14386	.	.	ENSG00000155495	ENST00000285879	T	0.02258	4.37	1.2	-0.188	0.13264	.	.	.	.	.	T	0.01661	0.0053	N	0.19112	0.55	0.09310	N	1	P	0.39520	0.676	B	0.36030	0.216	T	0.48103	-0.9064	9	0.66056	D	0.02	.	5.8034	0.18426	0.238:0.0:0.762:0.0	.	799	O60732	MAGC1_HUMAN	H	799	ENSP00000285879:Q799H	ENSP00000285879:Q799H	Q	+	3	2	MAGEC1	140823253	0.029000	0.19370	0.001000	0.08648	0.028000	0.11728	0.378000	0.20569	-0.338000	0.08413	0.284000	0.19432	CAG		0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		C	140995587	G	C	140995587	3	2	198	1	0	0	0	0	1	0	0	0	9182	933	33	4	2403	4	MAGEC1	23	140995587	Missense_Mutation	SNP	G	TCGA-B0-5116-01A-02D-1421-08	7615921	140995587	14274973	63	12221											
VHL	7428	hgsc.bcm.edu	37	3	10183815	10183815	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5116-01A-02W-1475-10	TCGA-B0-5116-11A-01W-1475-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	e393f502-8aa5-40fb-8280-a89e36fa87aa	5a6e989a-cfad-46fb-beee-fdfa7b1430bd	g.chr3:10183815C>A	ENST00000256474.2	+	1	1124	c.284C>A	c.(283-285)cCg>cAg	p.P95Q	VHL_ENST00000345392.2_Missense_Mutation_p.P95Q|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	95			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P95R(2)|p.P95_P99del(1)|p.E94fs*62(1)|p.R60fs*35(1)|p.F91fs*64(1)|p.E94fs*34(1)|p.Q96fs*36(1)|p.P95fs*59(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GACGGCGAGCCGCAGCCCTAC	0.692		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Deletion - Frameshift(5)|Substitution - Missense(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(9)	GRCh37	HD971482	VHL	D							13	15	14					3																	10183815		1869	3796	5665	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.284C>A	3.37:g.10183815C>A	ENSP00000256474:p.Pro95Gln		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709587	0.89018	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99842	-7.1;-7.1	5.16	4.29	0.51040	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	M	0.70275	2.135	0.47009	D	0.999283	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.991	D	0.98543	1.0633	10	0.29301	T	0.29	-2.4368	11.5897	0.50939	0.0:0.9133:0.0:0.0867	.	95;95	P40337-2;P40337	.;VHL_HUMAN	Q	95	ENSP00000256474:P95Q;ENSP00000344757:P95Q	ENSP00000256474:P95Q	P	+	2	0	VHL	10158815	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.406000	0.44557	1.192000	0.43071	0.550000	0.68814	CCG		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183815	C	A	10183815	3	1	199	1	0	0	0	0	1	0	0	0	17167	652	23	4	286	4	VHL	3	10183815	Missense_Mutation	SNP	C	TCGA-B0-5116-01A-02W-1475-10		10183815	187838615	1	12222											
C1orf59	113802	broad.mit.edu	37	1	109191481	109191481	+	Silent	SNP	G	G	T	rs140991391		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr1:109191481G>T	ENST00000370032.5	-	8	1309	c.889C>A	c.(889-891)Cgg>Agg	p.R297R	HENMT1_ENST00000402983.1_Silent_p.R297R|HENMT1_ENST00000370031.1_Silent_p.R328R|HENMT1_ENST00000493676.1_5'Flank	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	297					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TTATCACCCCGTTCCCCAGCC	0.507																																																0													93	84	87					1																	109191481		2203	4300	6503	SO:0001819	synonymous_variant	113802				CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"HEN1 methyltransferase homolog (Arabidopsis)"	612178	"chromosome 1 open reading frame 59"	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.889C>A	1.37:g.109191481G>T			A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Silent	SNP	ENST00000370032.5	37	CCDS787.1																																																																																				0.507	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		T	109191481	G	T	109191481	2	4	200	1	0	0	0	0	0	0	0	1	2053	1144	40	4		4	C1orf59	1	109191481	Silent	SNP	G	TCGA-B0-5117-01A-01D-1421-08		109191481	140059140	1	12223											
KCNK3	3777	broad.mit.edu	37	2	26950601	26950601	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr2:26950601G>A	ENST00000302909.3	+	2	475	c.350G>A	c.(349-351)gGc>gAc	p.G117D		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	117					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCGCTGCTGGGCATCCCGCTC	0.632																																					GBM(80;1457 1631 27100 45946)											0													116	107	110					2																	26950601		2203	4300	6503	SO:0001583	missense	3777			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.350G>A	2.37:g.26950601G>A	ENSP00000306275:p.Gly117Asp		Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555795	0.86231	.	.	ENSG00000171303	ENST00000302909	T	0.61980	0.06	5.27	5.27	0.74061	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90657	0.4587	10	0.87932	D	0	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	117	O14649	KCNK3_HUMAN	D	117	ENSP00000306275:G117D	ENSP00000306275:G117D	G	+	2	0	KCNK3	26804105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.619000	0.88677	0.561000	0.74099	GGC		0.632	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		A	26950601	G	A	26950601	3	1	200	1	0	0	0	0	1	0	0	0	8069	1203	42	2	356	2	KCNK3	2	26950601	Missense_Mutation	SNP	G	TCGA-B0-5117-01A-01D-1421-08		26950601	216248772	2	12224											
ACTR8	93973	broad.mit.edu	37	3	53911743	53911743	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr3:53911743A>C	ENST00000335754.3	-	4	541	c.441T>G	c.(439-441)atT>atG	p.I147M	ACTR8_ENST00000482349.1_Missense_Mutation_p.I36M|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	147					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGTGATCTAAAATTGCAGGTC	0.393																																																0													98	93	95					3																	53911743		2203	4300	6503	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.441T>G	3.37:g.53911743A>C	ENSP00000336842:p.Ile147Met		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.591266	0.46214	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	D;T	0.97041	-4.22;0.84	5.79	4.56	0.56223	.	0.050564	0.85682	D	0.000000	D	0.93167	0.7824	N	0.25485	0.75	0.80722	D	1	B	0.32365	0.367	B	0.33960	0.173	D	0.90381	0.4388	10	0.46703	T	0.11	-26.5862	10.1921	0.43032	0.8204:0.0:0.0:0.1796	.	147	Q9H981	ARP8_HUMAN	M	147;36;36	ENSP00000336842:I147M;ENSP00000419429:I36M	ENSP00000336842:I147M	I	-	3	3	ACTR8	53886783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.500000	0.35682	0.886000	0.36113	0.528000	0.53228	ATT		0.393	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		C	53911743	A	C	53911743	3	2	200	1	0	0	0	0	1	0	0	0	217	10	1	5	1473	5	ACTR8	3	53911743	Missense_Mutation	SNP	A	TCGA-B0-5117-01A-01D-1421-08		53911743	144110687	3	12225											
WDR52	55779	broad.mit.edu	37	3	113115480	113115480	+	Missense_Mutation	SNP	G	G	A	rs145391746		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr3:113115480G>A	ENST00000295868.2	-	14	1826	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000393845.2_Missense_Mutation_p.A555V	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTCCGTCCCGCAAAAATCGT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		17612	0.0		0.001	False		,,,				2504	0.0															0								G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	94	97	96		1664,1664	3.5	0.5	3	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	WDR52	NM_001164496.1,NM_018338.3	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	555/1855,555/983	113115480	2,13004	2203	4300	6503	SO:0001583	missense	55779																														ENST00000295868.2:c.1664C>T	3.37:g.113115480G>A	ENSP00000295868:p.Ala555Val			Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.112	0.576189	0.13623	2.27E-4	1.16E-4	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.65732	-0.17;0.79	5.39	3.55	0.40652	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.53802	0.1819	L	0.44542	1.39	0.30702	N	0.750186	B	0.14012	0.009	B	0.08055	0.003	T	0.49194	-0.8965	9	0.28530	T	0.3	.	13.7098	0.62661	0.1466:0.0:0.8534:0.0	.	555	Q96MT7	WDR52_HUMAN	V	555	ENSP00000377428:A555V;ENSP00000295868:A555V	ENSP00000295868:A555V	A	-	2	0	WDR52	114598170	1.000000	0.71417	0.459000	0.27081	0.019000	0.09904	4.380000	0.59581	0.331000	0.23511	-0.797000	0.03246	GCG		0.398	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			A	113115480	G	A	113115480	3	1	200	1	0	0	0	0	1	0	0	0	17309	1087	38	1	4003	1	WDR52	3	113115480	Missense_Mutation	SNP	G	TCGA-B0-5117-01A-01D-1421-08	59203737	113115480	84906950	4	12226											
OPA1	4976	broad.mit.edu	37	3	193384116	193384116	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr3:193384116G>A	ENST00000392438.3	+	26	2879	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H	OPA1_ENST00000361908.3_Missense_Mutation_p.R919H|OPA1_ENST00000361510.2_Missense_Mutation_p.R937H|OPA1_ENST00000361150.2_Missense_Mutation_p.R883H|OPA1_ENST00000361828.2_Missense_Mutation_p.R900H|OPA1_ENST00000361715.2_Missense_Mutation_p.R901H	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	882			R -> L (in OPA1). {ECO:0000269|PubMed:19319978}.		apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTGTTTTGGCGTATACAGCGC	0.358																																																0													152	136	141					3																	193384116		2203	4300	6503	SO:0001583	missense	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2645G>A	3.37:g.193384116G>A	ENSP00000376233:p.Arg882His		D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510650	0.96386	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000445863	D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.996;0.999;0.999;0.997;0.999;0.996;0.999	D	0.96297	0.9218	10	0.87932	D	0	-10.0178	18.799	0.92008	0.0:0.0:1.0:0.0	.	846;882;864;883;900;919;901;937	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	H	919;882;937;901;900;883;74	ENSP00000354681:R919H;ENSP00000376233:R882H;ENSP00000355324:R937H;ENSP00000355311:R901H;ENSP00000354429:R900H;ENSP00000354781:R883H;ENSP00000398358:R74H	ENSP00000354781:R883H	R	+	2	0	OPA1	194866810	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.678000	0.91216	0.555000	0.69702	CGT		0.358	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		A	193384116	G	A	193384116	3	1	200	1	0	0	0	0	1	0	0	0	10873	1145	40	1	2920	1	OPA1	3	193384116	Missense_Mutation	SNP	G	TCGA-B0-5117-01A-01D-1421-08	80268636	193384116	4638314	5	12227											
TADA2B	93624	broad.mit.edu	37	4	7056535	7056535	+	Silent	SNP	C	C	T	rs377183651		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr4:7056535C>T	ENST00000310074.7	+	2	1206	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	TADA2B_ENST00000512388.1_Silent_p.F264F|TADA2B_ENST00000515646.1_Silent_p.F247F	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	339					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ACAGCGAGTTCGCCGCCATTG	0.562																																																0								C		0,3948		0,0,1974	65	73	70		1017	-2.9	0.4	4		70	2,8310		0,2,4154	no	coding-synonymous	TADA2B	NM_152293.2		0,2,6128	TT,TC,CC		0.0241,0.0,0.0163		339/421	7056535	2,12258	1974	4156	6130	SO:0001819	synonymous_variant	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.1017C>T	4.37:g.7056535C>T			A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	ENST00000310074.7	37	CCDS47007.1																																																																																				0.562	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		T	7056535	C	T	7056535	2	4	200	1	0	0	0	0	0	0	0	1	15516	883	31	1		1	TADA2B	4	7056535	Silent	SNP	C	TCGA-B0-5117-01A-01D-1421-08		7056535	184097741	6	12228											
ANXA10	11199	broad.mit.edu	37	4	169108555	169108555	+	Silent	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr4:169108555C>A	ENST00000359299.3	+	12	1131	c.945C>A	c.(943-945)gcC>gcA	p.A315A		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	315						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CACTGCTTGCCATCTGTGCTG	0.338																																																0													107	101	103					4																	169108555		2203	4300	6503	SO:0001819	synonymous_variant	11199			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.945C>A	4.37:g.169108555C>A			Q96IQ5|Q9UJV4	Silent	SNP	ENST00000359299.3	37	CCDS34096.1																																																																																				0.338	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		A	169108555	C	A	169108555	2	1	200	1	0	0	0	0	0	0	0	1	715	581	21	4		4	ANXA10	4	169108555	Silent	SNP	C	TCGA-B0-5117-01A-01D-1421-08	162052020	169108555	22045721	7	12229											
MTRR	4552	broad.mit.edu	37	5	7895897	7895897	+	Silent	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr5:7895897C>A	ENST00000264668.2	+	12	1719	c.1689C>A	c.(1687-1689)ccC>ccA	p.P563P	MTRR_ENST00000440940.2_Silent_p.P536P	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	563					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CAGATGACCCCTCAATCCCCA	0.408																																																0													144	144	144					5																	7895897		2203	4300	6503	SO:0001819	synonymous_variant	4552			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1689C>A	5.37:g.7895897C>A			O60471|Q32MA9|Q7Z4M8	Silent	SNP	ENST00000264668.2	37	CCDS3874.1																																																																																				0.408	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			A	7895897	C	A	7895897	2	1	200	1	0	0	0	0	0	0	0	1	9963	668	24	4		4	MTRR	5	7895897	Silent	SNP	C	TCGA-B0-5117-01A-01D-1421-08		7895897	173019363	8	12230											
VCAN	1462	broad.mit.edu	37	5	82834109	82834109	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr5:82834109A>G	ENST00000265077.3	+	8	5852	c.5287A>G	c.(5287-5289)Aca>Gca	p.T1763A	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T776A|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1763	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T1763A(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAATGTAGCTACATCTAGTGA	0.383																																																1	Substitution - Missense(1)	large_intestine(1)											73	76	75					5																	82834109		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5287A>G	5.37:g.82834109A>G	ENSP00000265077:p.Thr1763Ala		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	7.828	0.719194	0.15372	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.86097	-2.06;-2.07;3.07	5.82	-2.77	0.05877	.	1.126930	0.06497	N	0.735587	T	0.67449	0.2894	N	0.17474	0.49	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.56251	-0.8010	10	0.02654	T	1	.	6.9381	0.24478	0.4746:0.3298:0.1956:0.0	.	776;1763	P13611-2;P13611	.;CSPG2_HUMAN	A	1763;776;776	ENSP00000265077:T1763A;ENSP00000340062:T776A;ENSP00000426251:T776A	ENSP00000265077:T1763A	T	+	1	0	VCAN	82869865	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.332000	0.07904	-1.162000	0.02797	-1.139000	0.01908	ACA		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		G	82834109	A	G	82834109	3	3	200	1	0	0	0	0	1	0	0	0	17143	391	14	3	5313	3	VCAN	5	82834109	Missense_Mutation	SNP	A	TCGA-B0-5117-01A-01D-1421-08	74938212	82834109	98081151	9	12231											
PKHD1	5314	broad.mit.edu	37	6	51929825	51929825	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr6:51929825C>T	ENST00000371117.3	-	13	1179	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V302M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	302	IPT/TIG 3.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGGAGACACGTGTCTAATA	0.443																																																0													92	86	88					6																	51929825		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.904G>A	6.37:g.51929825C>T	ENSP00000360158:p.Val302Met		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462041	0.26248	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79141	-1.24;-1.24	5.77	2.97	0.34412	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.303071	0.27052	N	0.021170	T	0.54240	0.1846	L	0.42529	1.33	0.25626	N	0.986357	P;D	0.54047	0.955;0.964	B;B	0.42593	0.272;0.392	T	0.49890	-0.8891	10	0.59425	D	0.04	.	8.7948	0.34872	0.1249:0.739:0.0:0.1361	.	302;302	P08F94-2;P08F94	.;PKHD1_HUMAN	M	302	ENSP00000360158:V302M;ENSP00000341097:V302M	ENSP00000341097:V302M	V	-	1	0	PKHD1	52037784	0.191000	0.23288	0.762000	0.31397	0.207000	0.24258	0.517000	0.22832	0.886000	0.36113	-0.181000	0.13052	GTG		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51929825	C	T	51929825	3	4	200	1	0	0	0	0	1	0	0	0	11973	536	19	1	11579	1	PKHD1	6	51929825	Missense_Mutation	SNP	C	TCGA-B0-5117-01A-01D-1421-08		51929825	119185242	10	12232											
HEATR2	54919	broad.mit.edu	37	7	796571	796571	+	Silent	SNP	G	G	T	rs202182894	byFrequency	TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr7:796571G>T	ENST00000297440.6	+	6	1430	c.1410G>T	c.(1408-1410)ccG>ccT	p.P470P	HEATR2_ENST00000313147.5_Silent_p.P470P	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	470						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CCCTCCAGCCGCACCTGGCAG	0.637																																																0													32	37	35					7																	796571		2203	4300	6503	SO:0001819	synonymous_variant	54919			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1410G>T	7.37:g.796571G>T			Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	0.118	-1.128735	0.01756	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.49	-11.0	0.00169	.	.	.	.	.	T	0.31670	0.0804	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47586	-0.9106	4	.	.	.	-41.2365	1.2074	0.01897	0.2405:0.3282:0.192:0.2393	.	.	.	.	S	272	.	.	A	+	1	0	HEATR2	763097	0.000000	0.05858	0.013000	0.15412	0.029000	0.11900	-2.464000	0.00996	-3.714000	0.00117	-3.080000	0.00066	GCA		0.637	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		T	796571	G	T	796571	2	4	200	1	0	0	0	0	0	0	0	1	7030	1074	38	4		4	HEATR2	7	796571	Silent	SNP	G	TCGA-B0-5117-01A-01D-1421-08		796571	158342092	11	12233											
TECPR1	25851	broad.mit.edu	37	7	97873932	97873932	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr7:97873932C>T	ENST00000447648.2	-	5	781	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TECPR1_ENST00000542604.1_Missense_Mutation_p.R82Q|TECPR1_ENST00000379795.3_Missense_Mutation_p.R161Q			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	161					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GATCCACTTCCGGCGCCGCAC	0.577																																																0													82	87	85					7																	97873932		1956	4125	6081	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.482G>A	7.37:g.97873932C>T	ENSP00000404923:p.Arg161Gln		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692390	0.68271	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	D;D;T	0.98633	-5.04;-5.04;0.07	5.2	4.31	0.51392	Ferlin/Peroxisome membrane (1);	0.051075	0.85682	D	0.000000	D	0.99275	0.9747	H	0.94771	3.58	0.43947	D	0.996611	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.966	D	0.98997	1.0810	10	0.87932	D	0	-40.8508	12.5564	0.56257	0.0:0.919:0.0:0.081	.	82;161	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	Q	161;161;82	ENSP00000404923:R161Q;ENSP00000369121:R161Q;ENSP00000441121:R82Q	ENSP00000369121:R161Q	R	-	2	0	TECPR1	97711868	1.000000	0.71417	0.486000	0.27416	0.202000	0.24057	6.073000	0.71245	1.186000	0.42985	0.555000	0.69702	CGG		0.577	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		T	97873932	C	T	97873932	3	4	200	1	0	0	0	0	1	0	0	0	15748	652	23	1	3103	1	TECPR1	7	97873932	Missense_Mutation	SNP	C	TCGA-B0-5117-01A-01D-1421-08	97077361	97873932	61264731	12	12234											
MUC17	140453	broad.mit.edu	37	7	100682390	100682390	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr7:100682390C>A	ENST00000306151.4	+	3	7757	c.7693C>A	c.(7693-7695)Cct>Act	p.P2565T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2565	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCTACCTCAAC	0.488																																																0													259	258	258					7																	100682390		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7693C>A	7.37:g.100682390C>A	ENSP00000302716:p.Pro2565Thr		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.256	-0.152183	0.06585	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.953	-0.621	0.11564	.	.	.	.	.	T	0.01870	0.0059	N	0.17082	0.46	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.49051	-0.8979	9	0.10377	T	0.69	.	2.3516	0.04285	0.0:0.3537:0.3098:0.3365	.	2565	Q685J3	MUC17_HUMAN	T	2565	ENSP00000302716:P2565T	ENSP00000302716:P2565T	P	+	1	0	MUC17	100469110	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.400000	0.02504	-0.203000	0.10251	0.134000	0.15878	CCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100682390	C	A	100682390	3	1	200	1	0	0	0	0	1	0	0	0	9976	739	26	4	7703	4	MUC17	7	100682390	Missense_Mutation	SNP	C	TCGA-B0-5117-01A-01D-1421-08	2808458	100682390	58456273	13	12235											
ANK1	286	broad.mit.edu	37	8	41529890	41529890	+	Missense_Mutation	SNP	G	G	A	rs567116417		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr8:41529890G>A	ENST00000347528.4	-	38	5161	c.5078C>T	c.(5077-5079)aCg>aTg	p.T1693M	ANK1_ENST00000396942.1_Missense_Mutation_p.T1693M|ANK1_ENST00000396945.1_Missense_Mutation_p.T1693M|ANK1_ENST00000379758.2_Missense_Mutation_p.T1693M|ANK1_ENST00000352337.4_Missense_Mutation_p.T1693M|ANK1_ENST00000289734.7_Missense_Mutation_p.T1693M|ANK1_ENST00000265709.8_Missense_Mutation_p.T1734M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1693	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCCTCTCCGTCACCTGACT	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17993	0.0		0.0	False		,,,				2504	0.0															0													100	93	95					8																	41529890		2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5078C>T	8.37:g.41529890G>A	ENSP00000339620:p.Thr1693Met		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939844	0.18281	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.64618	-0.1;-0.11;-0.08;-0.05;-0.08;-0.07;-0.1	5.18	-0.0637	0.13775	.	0.685781	0.14331	N	0.326361	T	0.41026	0.1141	N	0.22421	0.69	0.18873	N	0.999987	B;B;B;B;B;B	0.13594	0.008;0.003;0.001;0.001;0.002;0.002	B;B;B;B;B;B	0.12837	0.008;0.001;0.001;0.001;0.002;0.001	T	0.20174	-1.0283	10	0.42905	T	0.14	.	4.3601	0.11197	0.5104:0.0:0.3438:0.1458	.	1734;1531;1693;1693;1693;847	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	M	1693;1693;1693;1693;1693;1693;1734	ENSP00000339620:T1693M;ENSP00000289734:T1693M;ENSP00000369082:T1693M;ENSP00000380149:T1693M;ENSP00000380147:T1693M;ENSP00000309131:T1693M;ENSP00000265709:T1734M	ENSP00000265709:T1734M	T	-	2	0	ANK1	41649047	0.258000	0.24033	0.990000	0.47175	0.839000	0.47603	1.222000	0.32515	-0.143000	0.11334	0.545000	0.68477	ACG		0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		A	41529890	G	A	41529890	3	1	200	1	0	0	0	0	1	0	0	0	620	1145	40	1	913	1	ANK1	8	41529890	Missense_Mutation	SNP	G	TCGA-B0-5117-01A-01D-1421-08		41529890	104834132	14	12236											
CHD7	55636	broad.mit.edu	37	8	61767019	61767019	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr8:61767019C>A	ENST00000423902.2	+	32	7352	c.6873C>A	c.(6871-6873)gaC>gaA	p.D2291E	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2291					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.D2291D(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACATGGAGGACGGAGATCCTT	0.458																																																1	Substitution - coding silent(1)	large_intestine(1)											201	181	187					8																	61767019		1882	4114	5996	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6873C>A	8.37:g.61767019C>A	ENSP00000392028:p.Asp2291Glu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	c	15.25	2.777540	0.49786	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.81499	-1.5	5.79	-6.41	0.01938	.	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	L	0.59436	1.845	0.35115	D	0.766538	D	0.67145	0.996	P	0.50934	0.654	T	0.82341	-0.0505	10	0.49607	T	0.09	-21.8732	16.1478	0.81583	0.0:0.4749:0.0:0.5251	.	2291	Q9P2D1	CHD7_HUMAN	E	2291	ENSP00000392028:D2291E	ENSP00000307304:D2291E	D	+	3	2	CHD7	61929573	0.084000	0.21492	0.417000	0.26559	0.542000	0.35054	-0.422000	0.07043	-1.226000	0.02574	-1.594000	0.00841	GAC		0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61767019	C	A	61767019	3	1	200	1	0	0	0	0	1	0	0	0	3332	535	19	4	6995	4	CHD7	8	61767019	Missense_Mutation	SNP	C	TCGA-B0-5117-01A-01D-1421-08	20237129	61767019	84597003	15	12237											
OR13C8	138802	broad.mit.edu	37	9	107331658	107331658	+	Silent	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr9:107331658C>T	ENST00000335040.1	+	1	210	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	70						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(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCTTCCTCGACGTTTGCTACA	0.423																																																0													279	261	267					9																	107331658		2203	4300	6503	SO:0001819	synonymous_variant	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.210C>T	9.37:g.107331658C>T			Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	CCDS35090.1																																																																																				0.423	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			T	107331658	C	T	107331658	2	4	200	1	0	0	0	0	0	0	0	1	10940	535	19	1		1	OR13C8	9	107331658	Silent	SNP	C	TCGA-B0-5117-01A-01D-1421-08		107331658	33881773	16	12238											
PKN3	29941	broad.mit.edu	37	9	131481983	131481983	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr9:131481983G>A	ENST00000291906.4	+	19	2537	c.2144G>A	c.(2143-2145)cGg>cAg	p.R715Q	ZDHHC12_ENST00000467312.1_5'Flank|PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	715	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TTCGGGGACCGGACTAGCACC	0.592																																																0													195	197	197					9																	131481983		2203	4300	6503	SO:0001583	missense	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2144G>A	9.37:g.131481983G>A	ENSP00000291906:p.Arg715Gln		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573722	0.96553	.	.	ENSG00000160447	ENST00000291906	T	0.65549	-0.16	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.74898	0.3777	L	0.50847	1.595	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.75803	-0.3189	9	0.59425	D	0.04	.	16.8453	0.85979	0.0:0.0:1.0:0.0	.	715	Q6P5Z2	PKN3_HUMAN	Q	715	ENSP00000291906:R715Q	ENSP00000291906:R715Q	R	+	2	0	PKN3	130521804	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.662000	0.83803	2.588000	0.87417	0.563000	0.77884	CGG		0.592	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		A	131481983	G	A	131481983	3	1	200	1	0	0	0	0	1	0	0	0	11983	1116	39	1	2218	1	PKN3	9	131481983	Missense_Mutation	SNP	G	TCGA-B0-5117-01A-01D-1421-08	24150325	131481983	9731448	17	12239											
SARDH	1757	broad.mit.edu	37	9	136573487	136573487	+	Silent	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr9:136573487G>A	ENST00000371872.4	-	11	1649	c.1392C>T	c.(1390-1392)taC>taT	p.Y464Y	SARDH_ENST00000439388.1_Silent_p.Y464Y|SARDH_ENST00000422262.2_Silent_p.Y296Y	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	464					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGTTCTTGGCGTAGGACTCAT	0.652																																																0													101	102	102					9																	136573487		2203	4300	6503	SO:0001819	synonymous_variant	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1392C>T	9.37:g.136573487G>A			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	CCDS6978.1																																																																																				0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			A	136573487	G	A	136573487	2	1	200	1	0	0	0	0	0	0	0	1	13847	1140	40	1		1	SARDH	9	136573487	Silent	SNP	G	TCGA-B0-5117-01A-01D-1421-08	5091504	136573487	4639944	18	12240											
MYOF	26509	broad.mit.edu	37	10	95216640	95216640	+	Splice_Site	SNP	T	T	C			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr10:95216640T>C	ENST00000359263.4	-	2	142	c.143A>G	c.(142-144)gAg>gGg	p.E48G	MYOF_ENST00000358334.5_Splice_Site_p.E48G|MYOF_ENST00000371489.1_Splice_Site_p.E48G|MYOF_ENST00000371502.4_Splice_Site_p.E48G|MYOF_ENST00000371488.3_Splice_Site_p.E48G|MYOF_ENST00000371501.4_Splice_Site_p.E48G	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	48	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGAAGTCACCTCATTCCAGAC	0.333																																																0													140	145	143					10																	95216640		1836	4083	5919	SO:0001630	splice_region_variant	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.144+1A>G	10.37:g.95216640T>C			B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Splice_Site	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967684	0.74131	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489;ENST00000371488	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	4.59	4.59	0.56863	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.058257	0.64402	D	0.000003	D	0.91549	0.7331	H	0.97340	3.985	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93618	0.6945	10	0.87932	D	0	-19.6399	11.8591	0.52454	0.0:0.0:0.0:1.0	.	30;48;48	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	G	48	ENSP00000351094:E48G;ENSP00000352208:E48G;ENSP00000360556:E48G;ENSP00000360557:E48G;ENSP00000360544:E48G;ENSP00000360543:E48G	ENSP00000351094:E48G	E	-	2	0	MYOF	95206630	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.291000	0.65667	2.044000	0.60594	0.533000	0.62120	GAG		0.333	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	Missense_Mutation	C	95216640	T	C	95216640	5	2	200	1	0	0	0	0	0	0	1	0	10091	1565	54	3	6254	3	MYOF	10	95216640	Splice_Site	SNP	T	TCGA-B0-5117-01A-01D-1421-08		95216640	40318107	19	12241											
SMC3	9126	broad.mit.edu	37	10	112358023	112358023	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr10:112358023A>C	ENST00000361804.4	+	20	2369	c.2243A>C	c.(2242-2244)cAg>cCg	p.Q748P		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	748					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGAGGCAGCAGTCAGAGAAA	0.333																																																0													137	148	144					10																	112358023		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2243A>C	10.37:g.112358023A>C	ENSP00000354720:p.Gln748Pro		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723654	0.68959	.	.	ENSG00000108055	ENST00000361804	T	0.77620	-1.11	5.55	5.55	0.83447	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.72622	0.3483	L	0.36672	1.1	0.80722	D	1	P	0.36162	0.54	B	0.39904	0.313	T	0.71397	-0.4605	10	0.33141	T	0.24	.	15.9906	0.80202	1.0:0.0:0.0:0.0	.	748	Q9UQE7	SMC3_HUMAN	P	748	ENSP00000354720:Q748P	ENSP00000354720:Q748P	Q	+	2	0	SMC3	112348013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.839000	0.92120	2.238000	0.73509	0.477000	0.44152	CAG		0.333	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		C	112358023	A	C	112358023	3	2	200	1	0	0	0	0	1	0	0	0	14790	188	7	5	2321	5	SMC3	10	112358023	Missense_Mutation	SNP	A	TCGA-B0-5117-01A-01D-1421-08	17141383	112358023	23176724	20	12242											
RAB11FIP2	22841	broad.mit.edu	37	10	119798885	119798885	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr10:119798885C>G	ENST00000355624.3	-	3	1302	c.863G>C	c.(862-864)aGc>aCc	p.S288T	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.S288T|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	288					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		ATCCACAATGCTGTCAGGTTG	0.368																																																0													156	146	149					10																	119798885		2202	4299	6501	SO:0001583	missense	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.863G>C	10.37:g.119798885C>G	ENSP00000347839:p.Ser288Thr		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	C	5.059	0.196551	0.09599	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.64618	-0.09;-0.11	5.76	3.86	0.44501	.	0.495983	0.26026	N	0.026795	T	0.46541	0.1398	L	0.31294	0.92	0.28006	N	0.935093	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.25984	-1.0116	10	0.13853	T	0.58	-1.764	12.1501	0.54046	0.0:0.8949:0.0:0.1051	.	288;288	Q3I768;Q7L804	.;RFIP2_HUMAN	T	288	ENSP00000347839:S288T;ENSP00000358200:S288T	ENSP00000347839:S288T	S	-	2	0	RAB11FIP2	119788875	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.887000	0.28254	0.823000	0.34589	0.650000	0.86243	AGC		0.368	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		G	119798885	C	G	119798885	3	3	200	1	0	0	0	0	1	0	0	0	12900	797	28	4	687	4	RAB11FIP2	10	119798885	Missense_Mutation	SNP	C	TCGA-B0-5117-01A-01D-1421-08	7440862	119798885	15735862	21	12243											
OR51F1	256892	broad.mit.edu	37	11	4791095	4791095	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr11:4791095C>T	ENST00000380383.1	-	1	73	c.74G>A	c.(73-75)gGc>gAc	p.G25D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.G18D			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCCAGGAATGCCGGTCAACAA	0.458																																																0													45	48	47					11																	4791095		2201	4298	6499	SO:0001583	missense	256892			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.74G>A	11.37:g.4791095C>T	ENSP00000369744:p.Gly25Asp			Missense_Mutation	SNP	ENST00000380383.1	37		.	.	.	.	.	.	.	.	.	.	C	10.61	1.398706	0.25205	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00655	5.95;5.95	4.81	0.581	0.17407	.	0.283346	0.24848	N	0.035102	T	0.01940	0.0061	H	0.94847	3.59	0.09310	N	1	P	0.40578	0.722	B	0.40477	0.33	T	0.32534	-0.9903	10	0.87932	D	0	.	3.4274	0.07416	0.3067:0.4601:0.1487:0.0844	.	25	A6NGY5	O51F1_HUMAN	D	18;25	ENSP00000345163:G18D;ENSP00000369744:G25D	ENSP00000345163:G18D	G	-	2	0	OR51F1	4747671	0.009000	0.17119	0.006000	0.13384	0.234000	0.25298	1.458000	0.35223	-0.035000	0.13691	-0.291000	0.09656	GGC		0.458	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		T	4791095	C	T	4791095	3	4	200	1	0	0	0	0	1	0	0	0	11098	739	26	2	888	2	OR51F1	11	4791095	Missense_Mutation	SNP	C	TCGA-B0-5117-01A-01D-1421-08		4791095	130215421	22	12244											
GPR137	56834	broad.mit.edu	37	11	64056826	64056826	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr11:64056826C>T	ENST00000313074.3	+	7	1348	c.1243C>T	c.(1243-1245)Ccg>Tcg	p.P415S	KCNK4_ENST00000394525.2_5'Flank|GPR137_ENST00000377702.4_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.P473S|GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000539851.1_3'UTR|KCNK4_ENST00000422670.2_5'Flank	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	415						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGAGCTTGTGCCGTCCCCCTA	0.647																																																0													61	61	61					11																	64056826		2201	4297	6498	SO:0001583	missense	56834			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1243C>T	11.37:g.64056826C>T	ENSP00000321698:p.Pro415Ser		B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	C	9.310	1.055330	0.19907	.	.	ENSG00000173264	ENST00000411458;ENST00000313074	T;T	0.51574	0.7;0.85	5.27	3.38	0.38709	.	1.323320	0.05536	N	0.564845	T	0.30293	0.0760	N	0.08118	0	0.58432	D	0.999993	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.06991	-1.0796	10	0.49607	T	0.09	-0.0272	7.3883	0.26895	0.0:0.7394:0.1696:0.091	.	473;415	B4DTG7;Q96N19	.;G137A_HUMAN	S	473;415	ENSP00000411827:P473S;ENSP00000321698:P415S	ENSP00000321698:P415S	P	+	1	0	GPR137	63813402	0.698000	0.27777	0.584000	0.28653	0.551000	0.35334	1.531000	0.36018	0.718000	0.32166	0.561000	0.74099	CCG		0.647	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		T	64056826	C	T	64056826	3	4	200	1	0	0	0	0	1	0	0	0	6647	739	26	2	1557	2	GPR137	11	64056826	Missense_Mutation	SNP	C	TCGA-B0-5117-01A-01D-1421-08	59265731	64056826	70949690	23	12245											
PPFIBP1	8496	broad.mit.edu	37	12	27787945	27787945	+	Missense_Mutation	SNP	G	G	T	rs148953958		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr12:27787945G>T	ENST00000318304.8	+	4	450	c.167G>T	c.(166-168)cGt>cTt	p.R56L	PPFIBP1_ENST00000545334.1_Missense_Mutation_p.R56L|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R56L|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R56L|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.R56L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	56					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAAGACCTGCGTGGATTGTTA	0.458																																																0													107	109	109					12																	27787945		2203	4300	6503	SO:0001583	missense	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.167G>T	12.37:g.27787945G>T	ENSP00000314724:p.Arg56Leu		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970280	0.92855	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000545334;ENST00000318304;ENST00000535047;ENST00000542629;ENST00000228425;ENST00000535575;ENST00000542187	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	4.53	4.53	0.55603	.	0.000000	0.32671	U	0.005784	T	0.38427	0.1040	M	0.74258	2.255	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.995;0.999	D;D;D;P;D	0.91635	0.999;0.993;0.999;0.878;0.971	T	0.18085	-1.0348	10	0.46703	T	0.11	-10.5402	17.1107	0.86674	0.0:0.0:1.0:0.0	.	56;56;56;56;56	Q86W92;Q86W92-2;Q86W92-4;Q86W92-5;F5H0E0	LIPB1_HUMAN;.;.;.;.	L	56;56;56;56;56;56;56;56;69	ENSP00000445822:R56L;ENSP00000314724:R56L;ENSP00000444046:R56L;ENSP00000443442:R56L;ENSP00000228425:R56L	ENSP00000228425:R56L	R	+	2	0	PPFIBP1	27679212	1.000000	0.71417	0.951000	0.38953	0.984000	0.73092	9.555000	0.98123	2.349000	0.79799	0.306000	0.20318	CGT		0.458	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		T	27787945	G	T	27787945	3	4	200	1	0	0	0	0	1	0	0	0	12315	1145	40	4	173	4	PPFIBP1	12	27787945	Missense_Mutation	SNP	G	TCGA-B0-5117-01A-01D-1421-08		27787945	106063950	24	12246											
LARP4	113251	broad.mit.edu	37	12	50831576	50831580	+	Frame_Shift_Del	DEL	TTGTA	TTGTA	-			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr12:50831576_50831580delTTGTA	ENST00000398473.2	+	6	706_710	c.594_598delTTGTA	c.(592-600)cgttgtattfs	p.CI199fs	LARP4_ENST00000518444.1_Frame_Shift_Del_p.CI198fs|LARP4_ENST00000518561.1_Frame_Shift_Del_p.CI129fs|LARP4_ENST00000293618.8_Frame_Shift_Del_p.CI199fs|LARP4_ENST00000429001.3_Frame_Shift_Del_p.CI205fs|LARP4_ENST00000347328.5_Frame_Shift_Del_p.CI199fs|LARP4_ENST00000522085.1_Frame_Shift_Del_p.CI199fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	199	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R198R(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTCATAAGCGTTGTATTGTAATTCT	0.332																																																1	Substitution - coding silent(1)	kidney(1)																																								SO:0001589	frameshift_variant	113251			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.594_598delTTGTA	12.37:g.50831581_50831585delTTGTA	ENSP00000381490:p.Cys199fs		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Frame_Shift_Del	DEL	ENST00000398473.2	37	CCDS41782.1																																																																																				0.332	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		-	50831580	TTGTA	-	50831576	7	5	200	1	0	1	0	1	0	0	0	0	8632	1712	60	0	616	0	LARP4	12	50831576	Frame_Shift_Del	DEL	TTGTA	TCGA-B0-5117-01A-01D-1421-08	23043631	50831576	83020319	25	12247											
NCOR2	9612	broad.mit.edu	37	12	124856836	124856837	+	Frame_Shift_Ins	INS	-	-	G	rs532518067		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr12:124856836_124856837insG	ENST00000405201.1	-	20	2538_2539	c.2538_2539insC	c.(2536-2541)cccgcgfs	p.A847fs	NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.A829fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.A829fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.A830fs|NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.A847fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.A400fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	847					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTCAGCCGCGGGGGGCTTCT	0.698																																																0																																										SO:0001589	frameshift_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2539dupC	12.37:g.124856842_124856842dupG	ENSP00000384018:p.Ala847fs		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	ENST00000405201.1	37	CCDS41858.2																																																																																				0.698	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		G	124856837	-	G	124856836	7	5	200	1	0	1	1	0	0	0	0	0	10238	768	27	0	5141	0	NCOR2	12	124856836	Frame_Shift_Ins	INS	-	TCGA-B0-5117-01A-01D-1421-08	74025260	124856836	8995059	26	12248											
SGCG	6445	broad.mit.edu	37	13	23869612	23869612	+	Silent	SNP	G	G	T	rs367595212		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr13:23869612G>T	ENST00000218867.3	+	6	688	c.564G>T	c.(562-564)ccG>ccT	p.P188P	SGCG_ENST00000545013.1_Silent_p.P188P|SGCG_ENST00000537476.1_Silent_p.P188P	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	188					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GAGCCGACCCGTTTCAAGACC	0.408																																																0													130	132	132					13																	23869612		2203	4300	6503	SO:0001819	synonymous_variant	6445			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"Maghrebian myopathy (autosomal recessive)", "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan"	608896	"sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.564G>T	13.37:g.23869612G>T			Q32M32|Q5T9J6	Silent	SNP	ENST00000218867.3	37	CCDS9299.1																																																																																				0.408	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		T	23869612	G	T	23869612	2	4	200	1	0	0	0	0	0	0	0	1	14209	1132	40	4		4	SGCG	13	23869612	Silent	SNP	G	TCGA-B0-5117-01A-01D-1421-08		23869612	91300266	27	12249											
LCP1	3936	broad.mit.edu	37	13	46730641	46730641	+	Silent	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr13:46730641C>T	ENST00000398576.2	-	8	811	c.423G>A	c.(421-423)cgG>cgA	p.R141R	LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Silent_p.R141R			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	141	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.R141R(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGATGACATGCCGACAATCAG	0.383			T	BCL6	NHL																																		Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	1	Substitution - coding silent(1)	kidney(1)											251	241	244					13																	46730641		2203	4300	6503	SO:0001819	synonymous_variant	3936			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.423G>A	13.37:g.46730641C>T			B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	37	CCDS9403.1																																																																																				0.383	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		T	46730641	C	T	46730641	2	4	200	1	0	0	0	0	0	0	0	1	8693	726	26	2		2	LCP1	13	46730641	Silent	SNP	C	TCGA-B0-5117-01A-01D-1421-08	22861029	46730641	68439237	28	12250											
NEK5	341676	broad.mit.edu	37	13	52676276	52676276	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr13:52676276C>G	ENST00000355568.4	-	10	901	c.762G>C	c.(760-762)ttG>ttC	p.L254F		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGGGCCTTTTCAAAATGGAAT	0.423																																																0													123	137	132					13																	52676276		2203	4300	6503	SO:0001583	missense	341676			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.762G>C	13.37:g.52676276C>G	ENSP00000347767:p.Leu254Phe		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157716	0.38119	.	.	ENSG00000197168	ENST00000355568	T	0.34275	1.37	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000049	T	0.60287	0.2257	M	0.85373	2.75	0.39071	D	0.960726	D	0.89917	1.0	D	0.97110	1.0	T	0.66492	-0.5910	10	0.56958	D	0.05	.	7.8634	0.29522	0.0:0.8128:0.0:0.1872	.	254	Q6P3R8	NEK5_HUMAN	F	254	ENSP00000347767:L254F	ENSP00000347767:L254F	L	-	3	2	NEK5	51574277	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	0.996000	0.29719	2.838000	0.97847	0.563000	0.77884	TTG		0.423	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		G	52676276	C	G	52676276	3	3	200	1	0	0	0	0	1	0	0	0	10329	825	29	4	1416	4	NEK5	13	52676276	Missense_Mutation	SNP	C	TCGA-B0-5117-01A-01D-1421-08	5945635	52676276	62493602	29	12251											
IGDCC3	9543	broad.mit.edu	37	15	65667723	65667723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr15:65667723C>A	ENST00000327987.4	-	2	372	c.121G>T	c.(121-123)Gaa>Taa	p.E41*		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	41	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AATGCCAGTTCAGCAGAGTGG	0.552																																																0													30	27	28					15																	65667723		2201	4299	6500	SO:0001587	stop_gained	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.121G>T	15.37:g.65667723C>A	ENSP00000332773:p.Glu41*		O95215	Nonsense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	36	5.724225	0.96847	.	.	ENSG00000174498	ENST00000327987	.	.	.	5.63	5.63	0.86233	.	0.198194	0.42172	D	0.000742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-17.5872	19.7096	0.96089	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000332773:E41X	E	-	1	0	IGDCC3	63454776	1.000000	0.71417	0.922000	0.36590	0.012000	0.07955	7.687000	0.84139	2.652000	0.90054	0.655000	0.94253	GAA		0.552	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		A	65667723	C	A	65667723	4	1	200	1	0	0	0	0	0	1	0	0	7570	835	29	4	2375	4	IGDCC3	15	65667723	Nonsense_Mutation	SNP	C	TCGA-B0-5117-01A-01D-1421-08		65667723	36863669	30	12252											
ABCC6	368	broad.mit.edu	37	16	16295884	16295884	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr16:16295884C>T	ENST00000205557.7	-	9	1179	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	384	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCAGTGATGGCCGACCGCAAC	0.572																																																0													101	85	91					16																	16295884		2197	4300	6497	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1150G>A	16.37:g.16295884C>T	ENSP00000205557:p.Ala384Thr		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	.	18.53	3.643369	0.67244	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.89485	-2.52;-2.52	4.33	4.33	0.51752	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.47093	U	0.000258	D	0.92899	0.7741	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93476	0.6823	10	0.66056	D	0.02	.	13.8144	0.63283	0.0:1.0:0.0:0.0	.	396;384	F5GWQ0;O95255	.;MRP6_HUMAN	T	384;384;396	ENSP00000205557:A384T;ENSP00000405002:A384T	ENSP00000205557:A384T	A	-	1	0	ABCC6	16203385	1.000000	0.71417	0.073000	0.20177	0.135000	0.20990	6.765000	0.74965	1.961000	0.56991	0.485000	0.47835	GCC		0.572	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			T	16295884	C	T	16295884	3	4	200	1	0	0	0	0	1	0	0	0	57	739	26	2	3453	2	ABCC6	16	16295884	Missense_Mutation	SNP	C	TCGA-B0-5117-01A-01D-1421-08		16295884	74058869	31	12253											
ITGAM	3684	broad.mit.edu	37	16	31308843	31308843	+	Silent	SNP	C	C	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr16:31308843C>A	ENST00000287497.8	+	13	1440	c.1365C>A	c.(1363-1365)gcC>gcA	p.A455A	ITGAM_ENST00000544665.3_Silent_p.A455A			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	455					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGATCGGCGCCTACTTCGGGG	0.587																																																0													119	130	127					16																	31308843		2190	4293	6483	SO:0001819	synonymous_variant	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1365C>A	16.37:g.31308843C>A			Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	CCDS45470.1																																																																																				0.587	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		A	31308843	C	A	31308843	2	1	200	1	0	0	0	0	0	0	0	1	7889	668	24	4		4	ITGAM	16	31308843	Silent	SNP	C	TCGA-B0-5117-01A-01D-1421-08	15012959	31308843	59045910	32	12254											
MTHFSD	64779	broad.mit.edu	37	16	86582080	86582080	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr16:86582080G>A	ENST00000360900.6	-	4	366	c.341C>T	c.(340-342)gCc>gTc	p.A114V	MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000381214.5_Missense_Mutation_p.A114V|MTHFSD_ENST00000322911.6_Missense_Mutation_p.A113V|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000543303.2_Missense_Mutation_p.A113V	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	114							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CTGAGAGGTGGCACATTTTCT	0.453																																																0													143	137	139					16																	86582080		1906	4107	6013	SO:0001583	missense	64779			AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.341C>T	16.37:g.86582080G>A	ENSP00000354152:p.Ala114Val		A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942894	0.92526	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911	T;T;T	0.44482	0.92;0.92;0.92	4.98	4.98	0.66077	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.107337	0.64402	D	0.000004	T	0.59824	0.2222	L	0.58583	1.82	0.43959	D	0.996634	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74023	0.982;0.982;0.982;0.969	T	0.59215	-0.7496	10	0.44086	T	0.13	-6.6	15.4266	0.75055	0.0:0.0:1.0:0.0	.	114;113;114;113	E9PAM1;B7ZLC0;Q2M296;Q2M296-2	.;.;MTHSD_HUMAN;.	V	112;114;114;113	ENSP00000370612:A114V;ENSP00000354152:A114V;ENSP00000326777:A113V	ENSP00000326777:A113V	A	-	2	0	MTHFSD	85139581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.667000	0.91153	2.323000	0.78572	0.655000	0.94253	GCC		0.453	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		A	86582080	G	A	86582080	3	1	200	1	0	0	0	0	1	0	0	0	9935	1203	42	2	830	2	MTHFSD	16	86582080	Missense_Mutation	SNP	G	TCGA-B0-5117-01A-01D-1421-08	55273237	86582080	3772673	33	12255											
SLC16A13	201232	broad.mit.edu	37	17	6941493	6941493	+	Silent	SNP	C	C	T			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr17:6941493C>T	ENST00000308027.6	+	3	674	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	122						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CTTTGACCTTCGCTCCGACCC	0.587																																																0													84	81	82					17																	6941493		2203	4300	6503	SO:0001819	synonymous_variant	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.366C>T	17.37:g.6941493C>T			A3KMG3|A5PKU5|Q2VP92	Silent	SNP	ENST00000308027.6	37	CCDS11085.1																																																																																				0.587	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			T	6941493	C	T	6941493	2	4	200	1	0	0	0	0	0	0	0	1	14412	883	31	1		1	SLC16A13	17	6941493	Silent	SNP	C	TCGA-B0-5117-01A-01D-1421-08		6941493	74253717	34	12256											
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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)	CGGATAAGATGCTGAGGAGGG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)											95	85	88					17																	7578272		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr		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	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	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	0.99873	0.9940	M	0.88906	2.99	0.58432	D	0.999999	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;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7578272	G	A	7578272	3	1	200	1	0	0	0	0	1	0	0	0	16386	1319	46	2	717	2	TP53	17	7578272	Missense_Mutation	SNP	G	TCGA-B0-5117-01A-01D-1421-08	636779	7578272	73616938	35	12257											
RYR1	6261	broad.mit.edu	37	19	39019676	39019676	+	Missense_Mutation	SNP	G	G	A	rs193922838		TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr19:39019676G>A	ENST00000359596.3	+	76	11120	c.11120G>A	c.(11119-11121)cGc>cAc	p.R3707H	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.R3707H|RYR1_ENST00000355481.4_Missense_Mutation_p.R3702H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3707					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R3707L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CACTTCAGCCGCACTGCCCTG	0.637																																																1	Substitution - Missense(1)	lung(1)	GRCh37	CM064216	RYR1	M							76	63	68					19																	39019676		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11120G>A	19.37:g.39019676G>A	ENSP00000352608:p.Arg3707His		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	14.58	2.576582	0.45902	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97352	-4.34;-4.35;-4.34	5.33	5.33	0.75918	.	0.000000	0.64402	U	0.000005	D	0.95784	0.8628	L	0.60455	1.87	0.43029	D	0.994597	B;B;B	0.22080	0.064;0.064;0.038	B;B;B	0.19148	0.024;0.005;0.002	D	0.93806	0.7105	10	0.66056	D	0.02	.	17.7982	0.88579	0.0:0.0:1.0:0.0	.	3707;3702;3707	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	3707;3702;3707;627	ENSP00000352608:R3707H;ENSP00000347667:R3702H;ENSP00000354254:R3707H	ENSP00000347667:R3702H	R	+	2	0	RYR1	43711516	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.358000	0.79466	2.503000	0.84419	0.651000	0.88453	CGC		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	39019676	G	A	39019676	3	1	200	1	0	0	0	0	1	0	0	0	13774	1087	38	1	11422	1	RYR1	19	39019676	Missense_Mutation	SNP	G	TCGA-B0-5117-01A-01D-1421-08		39019676	20109307	36	12258											
PRX	57716	broad.mit.edu	37	19	40901891	40901891	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr19:40901891C>G	ENST00000324001.7	-	7	2638	c.2368G>C	c.(2368-2370)Gaa>Caa	p.E790Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	790					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)			TCTGCCTGTTCTGCCTTGGTG	0.597																																																0													123	102	109					19																	40901891		2203	4300	6503	SO:0001583	missense	57716			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.2368G>C	19.37:g.40901891C>G	ENSP00000326018:p.Glu790Gln		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697406	0.68386	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01119	5.31	5.15	4.08	0.47627	.	0.183735	0.34435	N	0.003979	T	0.03871	0.0109	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.60826	-0.7186	10	0.18276	T	0.48	-21.7691	9.4532	0.38739	0.1624:0.6808:0.1569:0.0	.	790	Q9BXM0	PRAX_HUMAN	Q	790	ENSP00000326018:E790Q	ENSP00000326018:E790Q	E	-	1	0	PRX	45593731	0.017000	0.18338	0.327000	0.25402	0.193000	0.23685	0.217000	0.17603	1.098000	0.41479	0.655000	0.94253	GAA		0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		G	40901891	C	G	40901891	3	3	200	1	0	0	0	0	1	0	0	0	12647	922	32	4	2021	4	PRX	19	40901891	Missense_Mutation	SNP	C	TCGA-B0-5117-01A-01D-1421-08	1882215	40901891	18227092	37	12259											
KLK4	9622	broad.mit.edu	37	19	51412533	51412533	+	Silent	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr19:51412533G>A	ENST00000324041.1	-	2	198	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Silent_p.L18L	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	67	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCGGCTGACAGCACCCACTGC	0.647																																																0													102	112	109					19																	51412533		2203	4300	6503	SO:0001819	synonymous_variant	9622			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.199C>T	19.37:g.51412533G>A			Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	37	CCDS12809.1																																																																																				0.647	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		A	51412533	G	A	51412533	2	1	200	1	0	0	0	0	0	0	0	1	8408	962	34	2		2	KLK4	19	51412533	Silent	SNP	G	TCGA-B0-5117-01A-01D-1421-08	10510642	51412533	7716450	38	12260											
UQCR10	29796	broad.mit.edu	37	22	30163417	30163417	+	Silent	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr22:30163417G>A	ENST00000330029.6	+	1	60	c.30G>A	c.(28-30)ttG>ttA	p.L10L	ZMAT5_ENST00000344318.3_5'Flank|UQCR10_ENST00000401406.3_Silent_p.L10L|ZMAT5_ENST00000397781.3_5'Flank	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	10					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						CTTCGAAATTGTACTCCCTGC	0.622																																																0													54	62	59					22																	30163417		2057	4195	6252	SO:0001819	synonymous_variant	29796			AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"Mitochondrial respiratory chain complex / Complex III"	30863	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa", "complex III subunit 9"	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.30G>A	22.37:g.30163417G>A			B5MCM5|Q9T2V6	Silent	SNP	ENST00000330029.6	37	CCDS46680.1																																																																																				0.622	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387		A	30163417	G	A	30163417	2	1	200	1	0	0	0	0	0	0	0	1	17021	1368	48	2		2	UQCR10	22	30163417	Silent	SNP	G	TCGA-B0-5117-01A-01D-1421-08		30163417	21141149	39	12261											
TTLL1	25809	broad.mit.edu	37	22	43459908	43459908	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chr22:43459908G>A	ENST00000266254.7	-	7	898	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	TTLL1_ENST00000331018.7_Missense_Mutation_p.R220W	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	220	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GTGCAGAACCGGCAAAACCCA	0.463																																																0													197	184	188					22																	43459908		2203	4300	6503	SO:0001583	missense	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.658C>T	22.37:g.43459908G>A	ENSP00000266254:p.Arg220Trp		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279331	0.80692	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.17854	2.25;2.25	5.98	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.62841	0.2461	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80011	-0.1561	10	0.72032	D	0.01	.	13.6211	0.62138	0.0715:0.0:0.9285:0.0	.	220;220	O95922-4;O95922	.;TTLL1_HUMAN	W	220	ENSP00000333734:R220W;ENSP00000266254:R220W	ENSP00000266254:R220W	R	-	1	2	TTLL1	41789852	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	3.421000	0.52742	1.535000	0.49220	0.591000	0.81541	CGG		0.463	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		A	43459908	G	A	43459908	3	1	200	1	0	0	0	0	1	0	0	0	16727	1115	39	1	633	1	TTLL1	22	43459908	Missense_Mutation	SNP	G	TCGA-B0-5117-01A-01D-1421-08	13296491	43459908	7844658	40	12262											
PLP2	5355	broad.mit.edu	37	X	49028442	49028443	+	Splice_Site	INS	-	-	G			TCGA-B0-5117-01A-01D-1421-08	TCGA-B0-5117-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10dbf5bc-9cb3-4d04-806d-cf0ddcc045be	45c68b6b-0bed-424d-9a77-4f87bbaa3649	g.chrX:49028442_49028443insG	ENST00000376327.5	+	1	170_171	c.95_96insG	c.(94-99)attata>atGtata	p.II32fs	PLP2_ENST00000376322.3_Splice_Site_p.II32fs	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	32	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						TTTGCTGAGATTGTGAGCGTTC	0.653																																																0																																										SO:0001630	splice_region_variant	5355			L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"A4 differentiation-dependent protein"	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.96+1->G	X.37:g.49028442_49028443insG			A6NDT7|Q32MM8	Splice_Site	INS	ENST00000376327.5	37	CCDS14319.1																																																																																				0.653	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056540.1	NM_002668	Frame_Shift_Ins	G	49028443	-	G	49028442	8	5	200	1	0	1	1	0	0	0	1	0	12107	1507	52	0	97	0	PLP2	23	49028442	Splice_Site	INS	-	TCGA-B0-5117-01A-01D-1421-08		49028442	106242118	41	12263											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu	37	1	11291426	11291426	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:11291426C>A	ENST00000361445.4	-	17	2656	c.2580G>T	c.(2578-2580)aaG>aaT	p.K860N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	860					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.K860N(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AAGTAGGGTACTTCCTGTAGG	0.517																																																1	Substitution - Missense(1)	kidney(1)											155	145	149					1																	11291426		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2580G>T	1.37:g.11291426C>A	ENSP00000354558:p.Lys860Asn		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170534	0.78452	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.08370	3.1	5.84	4.83	0.62350	Domain of unknown function DUF3385,  target of rapamycin protein (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.00194	-1.1933	10	0.72032	D	0.01	-21.4844	13.4212	0.60998	0.0:0.8975:0.0:0.1025	.	860	P42345	MTOR_HUMAN	N	860	ENSP00000354558:K860N	ENSP00000354558:K860N	K	-	3	2	MTOR	11214013	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.614000	0.24314	2.765000	0.95021	0.655000	0.94253	AAG		0.517	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		A	11291426	C	A	11291426	3	1	201	1	0	0	0	0	1	0	0	0	9956	564	20	4	5237	4	MTOR	1	11291426	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08		11291426	237959195	1	12264											
COL8A2	1296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36563552	36563552	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:36563552A>C	ENST00000397799.1	-	4	1954	c.1730T>G	c.(1729-1731)tTc>tGc	p.F577C	COL8A2_ENST00000303143.4_Missense_Mutation_p.F577C|COL8A2_ENST00000481785.1_Missense_Mutation_p.F512C			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	577	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.F577C(1)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACCGCAGTGAAGGCCGGTGT	0.662																																																1	Substitution - Missense(1)	kidney(1)											26	25	26					1																	36563552		2203	4300	6503	SO:0001583	missense	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1730T>G	1.37:g.36563552A>C	ENSP00000380901:p.Phe577Cys		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.332374	0.60853	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.98585	-5.01;-5.01;-5.01	4.23	4.23	0.50019	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98559	1.0640	10	0.54805	T	0.06	.	13.7562	0.62937	1.0:0.0:0.0:0.0	.	577	P25067	CO8A2_HUMAN	C	577;577;512;301	ENSP00000305913:F577C;ENSP00000380901:F577C;ENSP00000436433:F512C	ENSP00000305913:F577C	F	-	2	0	COL8A2	36336139	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.294000	0.78760	1.890000	0.54733	0.460000	0.39030	TTC		0.662	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		C	36563552	A	C	36563552	3	2	201	1	0	0	0	0	1	0	0	0	3708	246	9	5	385	5	COL8A2	1	36563552	Missense_Mutation	SNP	A	TCGA-B0-5119-01A-02D-1421-08	25272126	36563552	212687069	2	12265											
NGF	4803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	115829228	115829228	+	Silent	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:115829228C>A	ENST00000369512.2	-	3	357	c.189G>T	c.(187-189)gtG>gtT	p.V63V	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	63					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)	p.V63V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTGCCCCGCCACGCGTGCAG	0.627																																																1	Substitution - coding silent(1)	kidney(1)											43	45	44					1																	115829228		2203	4300	6503	SO:0001819	synonymous_variant	4803				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.189G>T	1.37:g.115829228C>A			A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	ENST00000369512.2	37	CCDS882.1																																																																																				0.627	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		A	115829228	C	A	115829228	2	1	201	1	0	0	0	0	0	0	0	1	10397	581	21	4		4	NGF	1	115829228	Silent	SNP	C	TCGA-B0-5119-01A-02D-1421-08	79265676	115829228	133421393	3	12266											
RGL1	23179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183835159	183835159	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:183835159A>G	ENST00000360851.3	+	4	555	c.377A>G	c.(376-378)gAa>gGa	p.E126G	RGL1_ENST00000536277.1_Missense_Mutation_p.E124G|RGL1_ENST00000539189.1_Missense_Mutation_p.E126G|RGL1_ENST00000304685.4_Missense_Mutation_p.E161G			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	126	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.E161G(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCAAACTGTGAAGAAGATGGA	0.398																																																1	Substitution - Missense(1)	kidney(1)											159	151	154					1																	183835159		2203	4300	6503	SO:0001583	missense	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.377A>G	1.37:g.183835159A>G	ENSP00000354097:p.Glu126Gly		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	A	11.38	1.621235	0.28889	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.1	5.1	0.69264	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.357359	0.29653	N	0.011543	T	0.48205	0.1487	L	0.55743	1.74	0.58432	D	0.999999	B;D;D;D	0.62365	0.0;0.991;0.991;0.991	B;D;D;D	0.74023	0.001;0.982;0.982;0.982	T	0.38478	-0.9659	10	0.38643	T	0.18	.	12.4099	0.55461	1.0:0.0:0.0:0.0	.	126;124;126;161	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	G	161;161;124;126;126	ENSP00000303192:E161G;ENSP00000356501:E161G;ENSP00000438662:E124G;ENSP00000354097:E126G;ENSP00000437355:E126G	ENSP00000303192:E161G	E	+	2	0	RGL1	182101782	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	4.749000	0.62155	1.931000	0.55961	0.533000	0.62120	GAA		0.398	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		G	183835159	A	G	183835159	3	3	201	1	0	0	0	0	1	0	0	0	13282	246	9	3	496	3	RGL1	1	183835159	Missense_Mutation	SNP	A	TCGA-B0-5119-01A-02D-1421-08	68005931	183835159	65415462	4	12267											
PPP1R15B	84919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204380314	204380314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:204380314C>A	ENST00000367188.4	-	1	605	c.226G>T	c.(226-228)Gga>Tga	p.G76*	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	76					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.G76*(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TGAAGCAATCCGGGGAGCGGC	0.567																																																1	Substitution - Nonsense(1)	kidney(1)											65	71	69					1																	204380314		2203	4300	6503	SO:0001587	stop_gained	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.226G>T	1.37:g.204380314C>A	ENSP00000356156:p.Gly76*		Q53GQ4|Q658M2|Q6P156|Q96SN1	Nonsense_Mutation	SNP	ENST00000367188.4	37	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	38	6.674616	0.97751	.	.	ENSG00000158615	ENST00000367188	.	.	.	5.22	-7.97	0.01139	.	0.877286	0.09617	N	0.778115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.0014	17.8388	0.88709	0.0:0.796:0.0:0.204	.	.	.	.	X	76	.	ENSP00000356156:G76X	G	-	1	0	PPP1R15B	202646937	0.000000	0.05858	0.005000	0.12908	0.861000	0.49209	-1.307000	0.02733	-1.386000	0.02098	-0.768000	0.03414	GGA		0.567	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		A	204380314	C	A	204380314	4	1	201	1	0	0	0	0	0	1	0	0	12369	661	23	4	1923	4	PPP1R15B	1	204380314	Nonsense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	20545155	204380314	44870307	5	12268											
RBBP5	5929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205069187	205069187	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:205069187G>T	ENST00000264515.6	-	8	899	c.758C>A	c.(757-759)cCa>cAa	p.P253Q	RBBP5_ENST00000367164.1_Missense_Mutation_p.P253Q	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	253					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.P253Q(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTTCTTCCATGGGGTCCTAAA	0.488																																																1	Substitution - Missense(1)	kidney(1)											88	86	87					1																	205069187		2203	4300	6503	SO:0001583	missense	5929			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.758C>A	1.37:g.205069187G>T	ENSP00000264515:p.Pro253Gln		A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367513	0.61513	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.24151	1.87;1.87	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	N	0.11845	0.185	0.80722	D	1	B;B;B;B	0.21606	0.058;0.034;0.021;0.034	B;B;B;B	0.18871	0.023;0.01;0.008;0.013	T	0.12553	-1.0543	10	0.09843	T	0.71	.	20.1899	0.98228	0.0:0.0:1.0:0.0	.	126;288;253;253	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	Q	253	ENSP00000264515:P253Q;ENSP00000356132:P253Q	ENSP00000264515:P253Q	P	-	2	0	RBBP5	203335810	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.714000	0.98744	2.873000	0.98535	0.563000	0.77884	CCA		0.488	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		T	205069187	G	T	205069187	3	4	201	1	0	0	0	0	1	0	0	0	13108	1348	47	4	886	4	RBBP5	1	205069187	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08	688873	205069187	44181434	6	12269											
SMYD2	56950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214510074	214510074	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:214510074G>A	ENST00000366957.5	+	12	1271	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	417					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)	p.G417S(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AGTAGCTCACGGCAAAGATCA	0.403																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											111	103	105					1																	214510074		2203	4300	6503	SO:0001583	missense	56950			AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.1249G>A	1.37:g.214510074G>A	ENSP00000355924:p.Gly417Ser		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716833	0.89205	.	.	ENSG00000143499	ENST00000366957	T	0.44482	0.92	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.67646	0.2915	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68428	-0.5411	10	0.66056	D	0.02	-21.8132	20.093	0.97828	0.0:0.0:1.0:0.0	.	417	Q9NRG4	SMYD2_HUMAN	S	417	ENSP00000355924:G417S	ENSP00000355924:G417S	G	+	1	0	SMYD2	212576697	1.000000	0.71417	0.997000	0.53966	0.363000	0.29612	9.621000	0.98376	2.756000	0.94617	0.561000	0.74099	GGC		0.403	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		A	214510074	G	A	214510074	3	1	201	1	0	0	0	0	1	0	0	0	14828	1116	39	1	1295	1	SMYD2	1	214510074	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08	9440887	214510074	34740547	7	12270											
CABC1	56997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227174152	227174152	+	Splice_Site	SNP	A	A	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:227174152A>T	ENST00000366779.1	+	20	4430		c.e20-1		ADCK3_ENST00000366777.3_Splice_Site|ADCK3_ENST00000478406.1_Splice_Site|ADCK3_ENST00000366778.1_Splice_Site|ADCK3_ENST00000433743.2_Splice_Site|ADCK3_ENST00000458507.2_Splice_Site			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3						cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTCTTGCCCCAGGTCATGGAA	0.597																																																2	Unknown(2)	kidney(2)											77	81	79					1																	227174152		2203	4300	6503	SO:0001630	splice_region_variant	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1660-1A>T	1.37:g.227174152A>T			Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Splice_Site	SNP	ENST00000366779.1	37	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422105	0.83559	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0978	0.81139	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCK3	225240775	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	9.289000	0.96061	2.206000	0.71126	0.482000	0.46254	.		0.597	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247	Intron	T	227174152	A	T	227174152	5	4	201	1	0	0	0	0	0	0	1	0	2529	202	7	5	1712	5	CABC1	1	227174152	Splice_Site	SNP	A	TCGA-B0-5119-01A-02D-1421-08	12664078	227174152	22076469	8	12271											
TPO	7173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1440117	1440117	+	Missense_Mutation	SNP	C	C	A	rs138509145		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:1440117C>A	ENST00000345913.4	+	5	534	c.443C>A	c.(442-444)gCg>gAg	p.A148E	TPO_ENST00000337415.3_Missense_Mutation_p.A148E|TPO_ENST00000382201.3_Missense_Mutation_p.A148E|TPO_ENST00000539820.1_Missense_Mutation_p.A148E|TPO_ENST00000382269.3_Missense_Mutation_p.A148E|TPO_ENST00000346956.3_Missense_Mutation_p.A148E|TPO_ENST00000329066.4_Missense_Mutation_p.A148E|TPO_ENST00000382198.1_Missense_Mutation_p.A148E|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.A148E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	148					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.A148E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTTGCCTGGCGAACAAATAC	0.443																																																1	Substitution - Missense(1)	kidney(1)											132	127	129					2																	1440117		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.443C>A	2.37:g.1440117C>A	ENSP00000318820:p.Ala148Glu		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729524	0.30684	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.14	3.33	0.38152	.	0.506549	0.22588	N	0.058121	T	0.67268	0.2875	M	0.75447	2.3	0.26071	N	0.981223	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.987;0.955;0.998;0.987;0.961	T	0.57418	-0.7815	10	0.30078	T	0.28	-13.8607	9.033	0.36271	0.0:0.8241:0.0:0.1759	.	148;148;148;148;148	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	E	148;148;148;148;148;148;148;148;148;148;77	ENSP00000371704:A148E;ENSP00000337263:A148E;ENSP00000318820:A148E;ENSP00000263886:A148E;ENSP00000332044:A148E;ENSP00000444840:A148E;ENSP00000329869:A148E;ENSP00000371636:A148E;ENSP00000390994:A148E;ENSP00000371633:A148E;ENSP00000405788:A77E	ENSP00000329869:A148E	A	+	2	0	TPO	1419124	0.870000	0.30015	0.536000	0.28039	0.033000	0.12548	1.478000	0.35442	0.560000	0.29169	0.313000	0.20887	GCG		0.443	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		A	1440117	C	A	1440117	3	1	201	1	0	0	0	0	1	0	0	0	16415	768	27	4	457	4	TPO	2	1440117	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08		1440117	241759256	9	12272											
ASXL2	55252	hgsc.bcm.edu;ucsc.edu	37	2	25973133	25973136	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	CACT	CACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:25973133_25973136delCACT	ENST00000435504.4	-	12	1582_1585	c.1289_1292delAGTG	c.(1288-1293)gagtgtfs	p.EC430fs	ASXL2_ENST00000404843.1_Frame_Shift_Del_p.EC170fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.EC170fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.EC402fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	430					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTCTTTACACTCTGACTGGGA	0.466																																																0																																										SO:0001589	frameshift_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1289_1292delAGTG	2.37:g.25973133_25973136delCACT	ENSP00000391447:p.Glu430fs		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Del	DEL	ENST00000435504.4	37																																																																																					0.466	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		-	25973136	CACT	-	25973133	7	5	201	1	0	1	0	1	0	0	0	0	1067	478	17	0	3023	0	ASXL2	2	25973133	Frame_Shift_Del	DEL	CACT	TCGA-B0-5119-01A-02D-1421-08	24533016	25973133	217226240	10	12273											
FAM179A	165186	broad.mit.edu;ucsc.edu	37	2	29221046	29221048	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	CAT	CAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:29221046_29221048delCAT	ENST00000379558.4	+	3	417_419	c.66_68delCAT	c.(64-69)agcatc>agc	p.I23del	FAM179A_ENST00000403861.2_In_Frame_Del_p.I23del	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	23										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTGCGGGAGCATCCCTCGGACC	0.626																																																0																																										SO:0001651	inframe_deletion	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.66_68delCAT	2.37:g.29221046_29221048delCAT	ENSP00000368876:p.Ile23del		Q6ZUF5	In_Frame_Del	DEL	ENST00000379558.4	37	CCDS1769.2																																																																																				0.626	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		-	29221048	CAT	-	29221046	7	5	201	1	0	1	0	1	0	0	0	0	5507	709	25	0	72	0	FAM179A	2	29221046	In_Frame_Del	DEL	CAT	TCGA-B0-5119-01A-02D-1421-08	3247913	29221046	213978327	11	12274											
PAPOLG	64895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61020826	61020826	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:61020826C>T	ENST00000238714.3	+	18	1993	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	582					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.L582F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGCCCAAGGACTTTCCATTCC	0.383																																					GBM(183;1497 2932 21839 46797)											1	Substitution - Missense(1)	kidney(1)											54	50	51					2																	61020826		2203	4300	6503	SO:0001583	missense	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1744C>T	2.37:g.61020826C>T	ENSP00000238714:p.Leu582Phe		B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811932	0.32053	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	5.61	3.79	0.43588	.	0.309199	0.34484	N	0.003939	T	0.66336	0.2779	L	0.51422	1.61	0.39800	D	0.97255	P;D;P	0.89917	0.868;1.0;0.713	B;D;B	0.85130	0.312;0.997;0.359	T	0.66504	-0.5907	9	0.42905	T	0.14	-27.408	8.5766	0.33603	0.1272:0.7299:0.0:0.1428	.	271;116;582	E9PEP5;Q53T81;Q9BWT3	.;.;PAPOG_HUMAN	F	582;271;250	.	ENSP00000238714:L582F	L	+	1	0	PAPOLG	60874330	0.992000	0.36948	0.838000	0.33150	0.363000	0.29612	0.369000	0.20416	1.501000	0.48654	0.655000	0.94253	CTT		0.383	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		T	61020826	C	T	61020826	3	4	201	1	0	0	0	0	1	0	0	0	11433	565	20	2	1814	2	PAPOLG	2	61020826	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	31799780	61020826	182178547	12	12275											
WDR33	55339	hgsc.bcm.edu;ucsc.edu	37	2	128481936	128481937	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:128481936_128481937insAT	ENST00000322313.4	-	11	1324_1325	c.1166_1167insAT	c.(1165-1167)attfs	p.I389fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	389					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGAGCAGAGAATATGCCCAAG	0.431																																																0																																										SO:0001589	frameshift_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1165_1166dupAT	2.37:g.128481939_128481940dupAT	ENSP00000325377:p.Ile389fs		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Ins	INS	ENST00000322313.4	37	CCDS2150.1																																																																																				0.431	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		AT	128481937	-	AT	128481936	7	5	201	1	0	1	1	0	0	0	0	0	17292	242	9	0	2891	0	WDR33	2	128481936	Frame_Shift_Ins	INS	-	TCGA-B0-5119-01A-02D-1421-08	67461110	128481936	114717437	13	12276											
SNED1	25992	broad.mit.edu	37	2	241991198	241991199	+	Frame_Shift_Ins	INS	-	-	G	rs138612536	byFrequency	TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:241991198_241991199insG	ENST00000310397.8	+	13	1773_1774	c.1773_1774insG	c.(1774-1776)gggfs	p.G592fs	SNED1_ENST00000342631.6_Frame_Shift_Ins_p.G592fs|SNED1_ENST00000401884.1_Frame_Shift_Ins_p.G592fs|SNED1_ENST00000405547.3_Frame_Shift_Ins_p.G592fs|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	592	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCTGCCGGAACGGGGGCACGTG	0.693																																																0																																										SO:0001589	frameshift_variant	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1778dupG	2.37:g.241991203_241991203dupG	ENSP00000308893:p.Gly592fs		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Frame_Shift_Ins	INS	ENST00000310397.8	37	CCDS46562.1																																																																																				0.693	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		G	241991199	-	G	241991198	7	5	201	1	0	1	1	0	0	0	0	0	14851	535	19	0	1823	0	SNED1	2	241991198	Frame_Shift_Ins	INS	-	TCGA-B0-5119-01A-02D-1421-08	113509262	241991198	1208175	14	12277											
ANO10	55129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	43618354	43618354	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:43618354T>C	ENST00000292246.3	-	6	1162	c.992A>G	c.(991-993)tAt>tGt	p.Y331C	ANO10_ENST00000451430.2_Missense_Mutation_p.Y220C|ANO10_ENST00000414522.2_Missense_Mutation_p.Y331C|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.Y265C	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	331					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.Y331C(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CATCATGACATACAGTGAGAA	0.522																																																1	Substitution - Missense(1)	kidney(1)											109	84	92					3																	43618354		2203	4300	6503	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.992A>G	3.37:g.43618354T>C	ENSP00000292246:p.Tyr331Cys		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232116	0.39498	.	.	ENSG00000160746	ENST00000292246;ENST00000396091;ENST00000414522;ENST00000451430	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.65	4.49	0.54785	.	0.112431	0.64402	D	0.000006	T	0.66790	0.2825	L	0.42245	1.32	0.54753	D	0.999982	B;B;D;B	0.54772	0.011;0.002;0.968;0.001	B;B;P;B	0.58013	0.021;0.022;0.831;0.013	T	0.65886	-0.6059	10	0.46703	T	0.11	.	11.721	0.51683	0.1395:0.0:0.0:0.8605	.	220;331;265;331	Q9NW15-4;C9JHS1;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	C	331;265;331;220	ENSP00000292246:Y331C;ENSP00000379398:Y265C;ENSP00000396990:Y331C;ENSP00000394119:Y220C	ENSP00000292246:Y331C	Y	-	2	0	ANO10	43593358	1.000000	0.71417	0.632000	0.29296	0.994000	0.84299	4.187000	0.58344	0.966000	0.38159	0.533000	0.62120	TAT		0.522	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		C	43618354	T	C	43618354	3	2	201	1	0	0	0	0	1	0	0	0	696	1406	49	3	1022	3	ANO10	3	43618354	Missense_Mutation	SNP	T	TCGA-B0-5119-01A-02D-1421-08		43618354	154404076	15	12278											
PBRM1	55193	hgsc.bcm.edu	37	3	52649437	52649437	+	Silent	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:52649437G>A	ENST00000296302.7	-	15	1855	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L	PBRM1_ENST00000394830.3_Silent_p.L618L|PBRM1_ENST00000337303.4_Silent_p.L618L|PBRM1_ENST00000356770.4_Silent_p.L586L|PBRM1_ENST00000410007.1_Silent_p.L618L|PBRM1_ENST00000409767.1_Silent_p.L633L|PBRM1_ENST00000409057.1_Silent_p.L618L|PBRM1_ENST00000409114.3_Silent_p.L633L			Q86U86	PB1_HUMAN	polybromo 1	618					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTTCTCCTTGAGTAACTTCT	0.373			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													114	103	107					3																	52649437		2203	4300	6503	SO:0001819	synonymous_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1854C>T	3.37:g.52649437G>A			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																					0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52649437	G	A	52649437	2	1	201	1	0	0	0	0	0	0	0	1	11493	1277	45	2		2	PBRM1	3	52649437	Silent	SNP	G	TCGA-B0-5119-01A-02D-1421-08	9031083	52649437	145372993	16	12279											
FSTL1	11167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	120130797	120130797	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:120130797T>G	ENST00000295633.3	-	4	558	c.202A>C	c.(202-204)Agt>Cgt	p.S68R	FSTL1_ENST00000424703.2_Missense_Mutation_p.S33R	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	68	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.S68R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TTGCCATTACTGCCACACACA	0.473																																																1	Substitution - Missense(1)	kidney(1)											224	179	194					3																	120130797		2203	4300	6503	SO:0001583	missense	11167			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.202A>C	3.37:g.120130797T>G	ENSP00000295633:p.Ser68Arg		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	ENST00000295633.3	37	CCDS2998.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677524	0.88445	.	.	ENSG00000163430	ENST00000295633;ENST00000424703;ENST00000469005	T;T;T	0.05580	3.42;3.42;3.42	5.22	5.22	0.72569	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.995	T	0.47355	-0.9124	10	0.87932	D	0	-20.277	14.2861	0.66247	0.0:0.0:0.0:1.0	.	33;68;68	B4DTT5;A8K523;Q12841	.;.;FSTL1_HUMAN	R	68;33;68	ENSP00000295633:S68R;ENSP00000394355:S33R;ENSP00000418505:S68R	ENSP00000295633:S68R	S	-	1	0	FSTL1	121613487	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.249000	0.78278	1.977000	0.57605	0.454000	0.30748	AGT		0.473	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		G	120130797	T	G	120130797	3	3	201	1	0	0	0	0	1	0	0	0	6079	1580	55	5	756	5	FSTL1	3	120130797	Missense_Mutation	SNP	T	TCGA-B0-5119-01A-02D-1421-08	67481360	120130797	77891633	17	12280											
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130293169	130293169	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:130293169delA	ENST00000358511.6	+	7	3378	c.3347delA	c.(3346-3348)gacfs	p.D1116fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.D1116fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1116	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGTCCCAAGACGAGGTGGCC	0.572																																																0													76	83	81					3																	130293169		2019	4173	6192	SO:0001589	frameshift_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3347delA	3.37:g.130293169delA	ENSP00000351310:p.Asp1116fs		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	CCDS46911.1																																																																																				0.572	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		-	130293169	A	-	130293169	7	5	201	1	0	1	0	1	0	0	0	0	3705	275	10	0	3373	0	COL6A6	3	130293169	Frame_Shift_Del	DEL	A	TCGA-B0-5119-01A-02D-1421-08	10162372	130293169	67729261	18	12281											
PLOD2	5352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	145820619	145820619	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:145820619C>G	ENST00000360060.3	-	7	877	c.700G>C	c.(700-702)Gaa>Caa	p.E234Q	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.E234Q|PLOD2_ENST00000494950.1_Missense_Mutation_p.E179Q	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	234					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.E234Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTGCCATTTTCAAATTTTAAA	0.328																																																1	Substitution - Missense(1)	kidney(1)											90	88	89					3																	145820619		2202	4299	6501	SO:0001583	missense	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.700G>C	3.37:g.145820619C>G	ENSP00000353170:p.Glu234Gln		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020940	0.93462	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950;ENST00000469350	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.22	5.22	0.72569	.	0.049631	0.85682	D	0.000000	T	0.51517	0.1679	M	0.71581	2.175	0.80722	D	1	D;D;P	0.56968	0.969;0.978;0.89	P;P;P	0.56916	0.597;0.809;0.686	T	0.53387	-0.8446	10	0.52906	T	0.07	-11.7641	18.7977	0.92001	0.0:1.0:0.0:0.0	.	179;234;234	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	Q	234;234;179;206	ENSP00000282903:E234Q;ENSP00000353170:E234Q;ENSP00000420094:E179Q;ENSP00000419963:E206Q	ENSP00000282903:E234Q	E	-	1	0	PLOD2	147303309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.274000	0.78538	2.418000	0.82041	0.655000	0.94253	GAA		0.328	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		G	145820619	C	G	145820619	3	3	201	1	0	0	0	0	1	0	0	0	12104	835	29	4	1632	4	PLOD2	3	145820619	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	15527450	145820619	52201811	19	12282											
NAALADL2	254827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	174815003	174815003	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:174815003C>G	ENST00000454872.1	+	2	595	c.467C>G	c.(466-468)tCt>tGt	p.S156C	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	156						integral component of membrane (GO:0016021)		p.S156C(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GATGCTCCATCTTCAGGAACA	0.363																																																1	Substitution - Missense(1)	kidney(1)											98	99	99					3																	174815003		1835	4090	5925	SO:0001583	missense	254827				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.467C>G	3.37:g.174815003C>G	ENSP00000404705:p.Ser156Cys		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423567	0.43020	.	.	ENSG00000177694	ENST00000454872	T	0.35605	1.3	5.63	5.63	0.86233	.	0.670467	0.13805	N	0.361552	T	0.38241	0.1033	N	0.19112	0.55	0.21719	N	0.999574	D;D	0.69078	0.966;0.997	P;P	0.55303	0.773;0.707	T	0.22730	-1.0208	9	.	.	.	-5.3159	14.2484	0.66004	0.0:0.9286:0.0:0.0714	.	139;156	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	C	156	ENSP00000404705:S156C	.	S	+	2	0	NAALADL2	176297697	0.883000	0.30277	0.389000	0.26208	0.422000	0.31414	1.998000	0.40796	2.803000	0.96430	0.585000	0.79938	TCT		0.363	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		G	174815003	C	G	174815003	3	3	201	1	0	0	0	0	1	0	0	0	10132	913	32	4	473	4	NAALADL2	3	174815003	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	28994384	174815003	23207427	20	12283											
ZBTB49	166793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	4304210	4304210	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr4:4304210T>G	ENST00000337872.4	+	3	768	c.647T>G	c.(646-648)cTc>cGc	p.L216R	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.L216R	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L216R(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TATTACAAACTCAGAAACTTT	0.453																																																1	Substitution - Missense(1)	kidney(1)											53	53	53					4																	4304210		2203	4300	6503	SO:0001583	missense	166793			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.647T>G	4.37:g.4304210T>G	ENSP00000338807:p.Leu216Arg		Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274721	0.80580	.	.	ENSG00000168826	ENST00000355834;ENST00000337872	T;T	0.34072	1.38;2.53	5.63	5.63	0.86233	.	0.000000	0.49916	D	0.000134	T	0.62575	0.2439	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67185	-0.5734	10	0.87932	D	0	.	16.1277	0.81406	0.0:0.0:0.0:1.0	.	216	Q6ZSB9	ZBT49_HUMAN	R	216	ENSP00000348091:L216R;ENSP00000338807:L216R	ENSP00000338807:L216R	L	+	2	0	ZBTB49	4355111	1.000000	0.71417	0.892000	0.35008	0.992000	0.81027	5.857000	0.69525	2.273000	0.75805	0.482000	0.46254	CTC		0.453	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		G	4304210	T	G	4304210	3	3	201	1	0	0	0	0	1	0	0	0	17555	1551	54	5	653	5	ZBTB49	4	4304210	Missense_Mutation	SNP	T	TCGA-B0-5119-01A-02D-1421-08		4304210	186850066	21	12284											
RICTOR	253260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	38963027	38963027	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr5:38963027delT	ENST00000357387.3	-	17	1547	c.1517delA	c.(1516-1518)cagfs	p.Q506fs	RICTOR_ENST00000296782.5_Frame_Shift_Del_p.Q506fs	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATCCCGTTTCTGGTGTGTTGC	0.353																																																0													166	155	159					5																	38963027		2203	4300	6503	SO:0001589	frameshift_variant	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1517delA	5.37:g.38963027delT	ENSP00000349959:p.Gln506fs			Frame_Shift_Del	DEL	ENST00000357387.3	37	CCDS34148.1																																																																																				0.353	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		-	38963027	T	-	38963027	7	5	201	1	0	1	0	1	0	0	0	0	13364	1580	55	0	3697	0	RICTOR	5	38963027	Frame_Shift_Del	DEL	T	TCGA-B0-5119-01A-02D-1421-08		38963027	141952233	22	12285											
F2R	2149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	76028881	76028881	+	Silent	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr5:76028881C>A	ENST00000319211.4	+	2	1096	c.831C>A	c.(829-831)gtC>gtA	p.V277V		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	277					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.V277V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCTCTGCTGTCTTCTTTTTTG	0.507																																																1	Substitution - coding silent(1)	kidney(1)											137	142	140					5																	76028881		2203	4300	6503	SO:0001819	synonymous_variant	2149			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.831C>A	5.37:g.76028881C>A			Q53XV0|Q96RF7|Q9BUN4	Silent	SNP	ENST00000319211.4	37	CCDS4032.1																																																																																				0.507	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			A	76028881	C	A	76028881	2	1	201	1	0	0	0	0	0	0	0	1	5345	900	32	4		4	F2R	5	76028881	Silent	SNP	C	TCGA-B0-5119-01A-02D-1421-08	37065854	76028881	104886379	23	12286											
SHROOM1	134549	broad.mit.edu	37	5	132158730	132158730	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr5:132158730C>T	ENST00000378679.3	-	10	3121	c.2317G>A	c.(2317-2319)Gtg>Atg	p.V773M	SHROOM1_ENST00000319854.3_Missense_Mutation_p.V768M|SHROOM1_ENST00000378676.1_Missense_Mutation_p.V704M|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	773	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)	p.V768M(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTCCCGCACGGCCCGCTCG	0.721																																																1	Substitution - Missense(1)	kidney(1)											17	17	17					5																	132158730		2197	4294	6491	SO:0001583	missense	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2317G>A	5.37:g.132158730C>T	ENSP00000367950:p.Val773Met		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373239	0.24857	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.50277	0.75;0.75;0.75	4.92	2.97	0.34412	Apx/shroom, ASD2 (2);	0.343628	0.25288	N	0.031754	T	0.52338	0.1728	M	0.68317	2.08	0.45366	D	0.99835	D;D	0.60575	0.985;0.988	B;P	0.47786	0.421;0.557	T	0.61797	-0.6989	10	0.56958	D	0.05	-9.4647	14.2984	0.66329	0.0:0.3883:0.6117:0.0	.	768;773	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	M	773;768;704	ENSP00000367950:V773M;ENSP00000324245:V768M;ENSP00000367947:V704M	ENSP00000324245:V768M	V	-	1	0	SHROOM1	132186629	0.169000	0.23002	0.881000	0.34555	0.074000	0.17049	0.910000	0.28571	1.383000	0.46405	-0.165000	0.13383	GTG		0.721	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		T	132158730	C	T	132158730	3	4	201	1	0	0	0	0	1	0	0	0	14299	536	19	1	245	1	SHROOM1	5	132158730	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	56129849	132158730	48756530	24	12287											
SAR1B	51128	broad.mit.edu;hgsc.bcm.edu	37	5	133944073	133944073	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr5:133944073T>A	ENST00000402673.2	-	6	747	c.469A>T	c.(469-471)Aca>Tca	p.T157S	SAR1B_ENST00000507419.1_Missense_Mutation_p.T89S|SAR1B_ENST00000439578.1_Missense_Mutation_p.T157S|SAR1B_ENST00000509937.1_Missense_Mutation_p.T89S|SAR1B_ENST00000502539.1_Missense_Mutation_p.T89S	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	157					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.T157S(1)		kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCCTGTTGTCTGACCATAT	0.358																																																1	Substitution - Missense(1)	kidney(1)											80	69	73					5																	133944073		2200	4298	6498	SO:0001583	missense	51128			AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"SAR1a gene homolog (S. cerevisiae) 2", "SAR1a gene homolog 2 (S. cerevisiae)", "SAR1 homolog B (S. cerevisiae)"	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.469A>T	5.37:g.133944073T>A	ENSP00000385432:p.Thr157Ser		D3DQA4|Q567T4	Missense_Mutation	SNP	ENST00000402673.2	37	CCDS4177.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084204	0.76642	.	.	ENSG00000152700	ENST00000394992;ENST00000402673;ENST00000507419;ENST00000502539;ENST00000439578;ENST00000509937;ENST00000509730;ENST00000505758	D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.86879	0.6039	M	0.88241	2.94	0.80722	D	1	B	0.15473	0.013	B	0.26864	0.074	D	0.85024	0.0913	10	0.54805	T	0.06	-27.7588	16.021	0.80493	0.0:0.0:0.0:1.0	.	157	Q9Y6B6	SAR1B_HUMAN	S	89;157;89;89;157;89;89;157	ENSP00000385432:T157S;ENSP00000425339:T89S;ENSP00000426335:T89S;ENSP00000404997:T157S;ENSP00000424673:T89S;ENSP00000423197:T89S;ENSP00000425466:T157S	ENSP00000378443:T89S	T	-	1	0	SAR1B	133971972	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.240000	0.73641	0.533000	0.62120	ACA		0.358	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	NM_016103		A	133944073	T	A	133944073	3	1	201	1	0	0	0	0	1	0	0	0	13846	1667	58	5	135	5	SAR1B	5	133944073	Missense_Mutation	SNP	T	TCGA-B0-5119-01A-02D-1421-08	1785343	133944073	46971187	25	12288											
OR2W1	26692	broad.mit.edu;hgsc.bcm.edu	37	6	29012082	29012082	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr6:29012082T>A	ENST00000377175.1	-	1	935	c.871A>T	c.(871-873)Acc>Tcc	p.T291S		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T291S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TTTCTTAAGGTGTAAATGAGC	0.428																																																1	Substitution - Missense(1)	kidney(1)											67	57	61					6																	29012082		1511	2709	4220	SO:0001583	missense	26692			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"GPCR / Class A : Olfactory receptors"	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.871A>T	6.37:g.29012082T>A	ENSP00000366380:p.Thr291Ser		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854359	0.51270	.	.	ENSG00000204704	ENST00000377175	T	0.36157	1.27	4.79	4.79	0.61399	.	0.000000	0.52532	D	0.000070	T	0.14141	0.0342	N	0.05330	-0.07	0.23665	N	0.997161	D	0.55385	0.971	P	0.52309	0.695	T	0.03706	-1.1011	10	0.51188	T	0.08	.	8.7147	0.34403	0.1695:0.0:0.0:0.8304	.	291	Q9Y3N9	OR2W1_HUMAN	S	291	ENSP00000366380:T291S	ENSP00000366380:T291S	T	-	1	0	OR2W1	29120061	0.003000	0.15002	0.988000	0.46212	0.965000	0.64279	0.237000	0.17985	1.766000	0.52107	0.482000	0.46254	ACC		0.428	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			A	29012082	T	A	29012082	3	1	201	1	0	0	0	0	1	0	0	0	11034	1696	59	5	95	5	OR2W1	6	29012082	Missense_Mutation	SNP	T	TCGA-B0-5119-01A-02D-1421-08		29012082	142102985	26	12289											
ITPR3	3710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33639879	33639879	+	Silent	SNP	C	C	T	rs370555491		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr6:33639879C>T	ENST00000374316.5	+	23	3862	c.2802C>T	c.(2800-2802)tcC>tcT	p.S934S	ITPR3_ENST00000605930.1_Silent_p.S934S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	934					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.S934S(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCAAGCAGTCCGTCTTCAGTG	0.607																																																2	Substitution - coding silent(2)	kidney(2)						C		1,4405	2.1+/-5.4	0,1,2202	90	79	83		2802	-3.4	1	6		83	0,8600		0,0,4300	no	coding-synonymous	ITPR3	NM_002224.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		934/2672	33639879	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2802C>T	6.37:g.33639879C>T			Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																				0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		T	33639879	C	T	33639879	2	4	201	1	0	0	0	0	0	0	0	1	7924	639	23	1		1	ITPR3	6	33639879	Silent	SNP	C	TCGA-B0-5119-01A-02D-1421-08	4627797	33639879	137475188	27	12290											
CDKN1A	1026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36652157	36652157	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr6:36652157G>C	ENST00000405375.1	+	2	514	c.279G>C	c.(277-279)agG>agC	p.R93S	CDKN1A_ENST00000448526.2_Missense_Mutation_p.R127S|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R93S|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R93S	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	93					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.R93S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GAGGAGGCAGGCGGCCTGGCA	0.672																																																1	Substitution - Missense(1)	kidney(1)											30	30	30					6																	36652157		2203	4300	6503	SO:0001583	missense	1026			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.279G>C	6.37:g.36652157G>C	ENSP00000384849:p.Arg93Ser		Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	6.450	0.451112	0.12223	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.23	4.34	0.51931	.	0.319912	0.27181	N	0.020555	T	0.24431	0.0592	L	0.29908	0.895	0.21841	N	0.999511	B;B;B	0.22276	0.067;0.02;0.039	B;B;B	0.19946	0.027;0.027;0.027	T	0.07366	-1.0776	10	0.08381	T	0.77	-24.1442	9.9725	0.41763	0.094:0.0:0.906:0.0	.	127;93;93	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	S	127;93;93;93	ENSP00000409259:R127S;ENSP00000244741:R93S;ENSP00000384849:R93S;ENSP00000362815:R93S	ENSP00000244741:R93S	R	+	3	2	CDKN1A	36760135	0.996000	0.38824	0.994000	0.49952	0.242000	0.25591	1.818000	0.39012	2.724000	0.93272	0.561000	0.74099	AGG		0.672	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		C	36652157	G	C	36652157	3	2	201	1	0	0	0	0	1	0	0	0	3160	1194	42	4	281	4	CDKN1A	6	36652157	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08	3012278	36652157	134462910	28	12291											
THEMIS	387357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	128150971	128150971	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr6:128150971T>C	ENST00000368248.2	-	3	507	c.359A>G	c.(358-360)cAg>cGg	p.Q120R	THEMIS_ENST00000368250.1_Missense_Mutation_p.Q41R|THEMIS_ENST00000537166.1_Missense_Mutation_p.Q85R|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q120R	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	120	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q120R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TATATCCTTCTGATGATAGAA	0.398																																																1	Substitution - Missense(1)	kidney(1)											99	98	99					6																	128150971		2203	4300	6503	SO:0001583	missense	387357			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.359A>G	6.37:g.128150971T>C	ENSP00000357231:p.Gln120Arg		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	T	8.419	0.845966	0.16963	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	6.14	2.31	0.28768	.	0.553031	0.17310	N	0.178933	T	0.02571	0.0078	L	0.44542	1.39	0.21256	N	0.999745	B;B	0.17852	0.024;0.003	B;B	0.11329	0.006;0.005	T	0.46775	-0.9167	10	0.19147	T	0.46	-2.1069	2.1971	0.03914	0.2117:0.0727:0.236:0.4796	.	120;120	F5H1J9;Q8N1K5	.;THMS1_HUMAN	R	41;120;120;85	ENSP00000357233:Q41R;ENSP00000439594:Q120R;ENSP00000357231:Q120R;ENSP00000439863:Q85R	ENSP00000357231:Q120R	Q	-	2	0	THEMIS	128192664	0.833000	0.29383	0.999000	0.59377	0.997000	0.91878	0.660000	0.25009	0.157000	0.19338	0.529000	0.55759	CAG		0.398	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		C	128150971	T	C	128150971	3	2	201	1	0	0	0	0	1	0	0	0	15865	1580	55	3	1703	3	THEMIS	6	128150971	Missense_Mutation	SNP	T	TCGA-B0-5119-01A-02D-1421-08	91498814	128150971	42964096	29	12292											
NRG1	3084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	32505280	32505280	+	Intron	SNP	G	G	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr8:32505280G>C	ENST00000405005.3	+	5	502				NRG1_ENST00000519301.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.R15T|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000341377.5_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R15T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCCGCCGAGAGGTCCTCCAGC	0.602																																																1	Substitution - Missense(1)	kidney(1)											33	35	34					8																	32505280		2203	4299	6502	SO:0001627	intron_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+30877G>C	8.37:g.32505280G>C			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	4.014	0.000070	0.07819	.	.	ENSG00000157168	ENST00000520502	.	.	.	6.08	5.2	0.72013	.	.	.	.	.	T	0.35537	0.0935	N	0.12182	0.205	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.17440	-1.0369	8	0.08179	T	0.78	.	12.1958	0.54296	0.0677:0.1271:0.8052:0.0	.	15;15	Q53F54;Q02297-10	.;.	T	15	.	ENSP00000433289:R15T	R	+	2	0	NRG1	32624822	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.753000	0.38359	2.894000	0.99253	0.655000	0.94253	AGG		0.602	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			C	32505280	G	C	32505280	1	2	201	0	1	0	0	0	0	0	0	0	10649	1000	35	4		4	NRG1	8	32505280	Intron	SNP	G	TCGA-B0-5119-01A-02D-1421-08		32505280	113858742	30	12293											
VCPIP1	80124	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67578932	67578933	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr8:67578932_67578933CC>AG	ENST00000310421.4	-	1	519_520	c.261_262GG>CT	c.(259-264)gaGGtg>gaCTtg	p.87_88EV>DL	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	87					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.E87D(1)|p.E87_V88>DL(1)|p.V88L(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGGTCGGTCACCTCCTCAACCC	0.624																																					NSCLC(179;265 2915 6144 43644)											3	Substitution - Missense(2)|Complex - compound substitution(1)	kidney(3)																																								SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.261_262delinsAG	8.37:g.67578932_67578933delinsAG	ENSP00000309031:p.E87_V88delinsDL		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1																																																																																				0.624	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			AG	67578933	CC	AG	67578932	3	1	201	1	0	0	0	0	1	0	0	0	17146	507	18	4	3418	4	VCPIP1	8	67578932	Missense_Mutation	DNP	CC	TCGA-B0-5119-01A-02D-1421-08	35073652	67578932	78785090	31	12294											
SULF1	23213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	70512843	70512843	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr8:70512843C>G	ENST00000260128.4	+	9	1457	c.740C>G	c.(739-741)cCt>cGt	p.P247R	SULF1_ENST00000458141.2_Missense_Mutation_p.P247R|SULF1_ENST00000419716.3_Missense_Mutation_p.P247R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.P247R	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	247					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.P247R(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCAGAACTCCTAGTTATAAC	0.348																																																1	Substitution - Missense(1)	kidney(1)											84	86	85					8																	70512843		2203	4300	6503	SO:0001583	missense	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.740C>G	8.37:g.70512843C>G	ENSP00000260128:p.Pro247Arg		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648668	0.87958	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	6.02	6.02	0.97574	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	M	0.85299	2.745	0.80722	D	1	P	0.46064	0.872	P	0.54499	0.754	D	0.99391	1.0925	10	0.72032	D	0.01	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	247	Q8IWU6	SULF1_HUMAN	R	247	ENSP00000403040:P247R;ENSP00000260128:P247R;ENSP00000385704:P247R;ENSP00000390315:P247R	ENSP00000260128:P247R	P	+	2	0	SULF1	70675397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.850000	0.98022	0.650000	0.86243	CCT		0.348	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		G	70512843	C	G	70512843	3	3	201	1	0	0	0	0	1	0	0	0	15375	681	24	4	758	4	SULF1	8	70512843	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	2933911	70512843	75851179	32	12295											
VPS13B	157680	broad.mit.edu;hgsc.bcm.edu	37	8	100847774	100847774	+	Silent	SNP	A	A	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr8:100847774A>G	ENST00000358544.2	+	54	9936	c.9825A>G	c.(9823-9825)ccA>ccG	p.P3275P	VPS13B_ENST00000357162.2_Silent_p.P3250P|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3275					protein transport (GO:0015031)			p.P3250P(1)|p.P3275P(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGATATTCCAAAGTTTGAGG	0.373																																					Colon(161;2205 2542 7338 31318)											2	Substitution - coding silent(2)	kidney(2)											45	49	48					8																	100847774		2203	4300	6503	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9825A>G	8.37:g.100847774A>G			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		G	100847774	A	G	100847774	2	3	201	1	0	0	0	0	0	0	0	1	17195	117	5	3		3	VPS13B	8	100847774	Silent	SNP	A	TCGA-B0-5119-01A-02D-1421-08	30334931	100847774	45516248	33	12296											
FBXO43	286151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	101153402	101153402	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr8:101153402delC	ENST00000428847.2	-	2	1396	c.1080delG	c.(1078-1080)cagfs	p.Q360fs		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	360					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CCTTATGTTTCTGCAGTAGTT	0.463																																																0													130	121	124					8																	101153402		1864	4097	5961	SO:0001589	frameshift_variant	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1080delG	8.37:g.101153402delC	ENSP00000403293:p.Gln360fs			Frame_Shift_Del	DEL	ENST00000428847.2	37	CCDS47904.1																																																																																				0.463	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		-	101153402	C	-	101153402	7	5	201	1	0	1	0	1	0	0	0	0	5754	912	32	0	1062	0	FBXO43	8	101153402	Frame_Shift_Del	DEL	C	TCGA-B0-5119-01A-02D-1421-08	305628	101153402	45210620	34	12297											
LAMC3	10319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133914596	133914596	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr9:133914596G>C	ENST00000361069.4	+	6	1377	c.1244G>C	c.(1243-1245)tGt>tCt	p.C415S	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	415	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.C415S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTGACCGCTGTCTGCCCGGG	0.632																																																1	Substitution - Missense(1)	kidney(1)											57	51	53					9																	133914596		2203	4300	6503	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1244G>C	9.37:g.133914596G>C	ENSP00000354360:p.Cys415Ser		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053492	0.93793	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	D	0.94280	-3.39	5.12	5.12	0.69794	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	H	0.99764	4.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99716	1.1008	10	0.87932	D	0	.	17.504	0.87739	0.0:0.0:1.0:0.0	.	415	Q9Y6N6	LAMC3_HUMAN	S	415	ENSP00000354360:C415S	ENSP00000325873:C415S	C	+	2	0	LAMC3	132904417	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.591000	0.98241	2.534000	0.85438	0.655000	0.94253	TGT		0.632	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		C	133914596	G	C	133914596	3	2	201	1	0	0	0	0	1	0	0	0	8618	1377	48	4	1266	4	LAMC3	9	133914596	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08		133914596	7298835	35	12298											
OLFM1	10439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	137990174	137990174	+	Missense_Mutation	SNP	G	G	C	rs371301894		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr9:137990174G>C	ENST00000371793.3	+	4	750	c.499G>C	c.(499-501)Gtg>Ctg	p.V167L	OLFM1_ENST00000371796.3_Missense_Mutation_p.V140L|OLFM1_ENST00000252854.4_Missense_Mutation_p.V149L	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	167					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.V149L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TTTGATACCTGTGTTGGAAGA	0.458																																																1	Substitution - Missense(1)	kidney(1)											115	109	111					9																	137990174		2203	4300	6503	SO:0001583	missense	10439			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.499G>C	9.37:g.137990174G>C	ENSP00000360858:p.Val167Leu		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.292672|4.292672	0.80914|0.80914	.|.	.|.	ENSG00000130558|ENSG00000130558	ENST00000545657|ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000371793;ENST00000539877	.|D;T;D;T;D;D	.|0.87650	.|-2.28;1.32;-2.27;0.34;-2.28;-2.02	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91153|0.91153	0.7214|0.7214	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|D;P	.|0.64830	.|0.994;0.849	.|D;B	.|0.70716	.|0.97;0.39	D|D	0.90736|0.90736	0.4646|0.4646	5|10	.|0.44086	.|T	.|0.13	.|.	18.5994|18.5994	0.91242|0.91242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|167;149	.|Q99784;Q6IMJ8	.|NOE1_HUMAN;.	S|L	26|149;156;140;84;167;64	.|ENSP00000252854:V149L;ENSP00000340318:V156L;ENSP00000360861:V140L;ENSP00000444296:V84L;ENSP00000360858:V167L;ENSP00000443806:V64L	.|ENSP00000252854:V149L	C|V	+|+	2|1	0|0	OLFM1|OLFM1	137129995|137129995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.558000|9.558000	0.98132|0.98132	2.466000|2.466000	0.83321|0.83321	0.637000|0.637000	0.83480|0.83480	TGT|GTG		0.458	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		C	137990174	G	C	137990174	3	2	201	1	0	0	0	0	1	0	0	0	10854	1377	48	4	469	4	OLFM1	9	137990174	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08	4075578	137990174	3223257	36	12299											
MLLT10	8028	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	22002761	22002761	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr10:22002761C>T	ENST00000307729.7	+	14	1938	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F	MLLT10_ENST00000377072.3_Missense_Mutation_p.S603F|MLLT10_ENST00000446906.2_Missense_Mutation_p.S587F|MLLT10_ENST00000377059.3_Missense_Mutation_p.S587F			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	587	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S587F(1)|p.S603F(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCTCGGGATCTAGTACTCCT	0.433			T	"MLL, PICALM, CDK6"	AL																																		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	2	Substitution - Missense(2)	kidney(2)											132	127	129					10																	22002761		2203	4300	6503	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1760C>T	10.37:g.22002761C>T	ENSP00000307411:p.Ser587Phe		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609593	0.87258	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.79	5.79	0.91817	.	0.055739	0.85682	D	0.000000	T	0.28200	0.0696	L	0.44542	1.39	0.58432	D	0.999996	D;D;D;D	0.76494	0.999;0.998;0.99;0.998	D;D;D;D	0.83275	0.996;0.991;0.974;0.993	T	0.00180	-1.1948	10	0.66056	D	0.02	.	18.204	0.89848	0.0:1.0:0.0:0.0	.	282;587;587;603	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	F	603;587;587;422;587;246;245	ENSP00000366272:S603F;ENSP00000401406:S587F;ENSP00000307411:S587F;ENSP00000366258:S587F	ENSP00000307411:S587F	S	+	2	0	MLLT10	22042767	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	3.536000	0.53582	2.727000	0.93392	0.563000	0.77884	TCT		0.433	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			T	22002761	C	T	22002761	3	4	201	1	0	0	0	0	1	0	0	0	9628	913	32	2	1862	2	MLLT10	10	22002761	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08		22002761	113531986	37	12300											
BICC1	80114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	60558280	60558280	+	Silent	SNP	A	A	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr10:60558280A>G	ENST00000373886.3	+	11	1492	c.1488A>G	c.(1486-1488)acA>acG	p.T496T	BICC1_ENST00000263103.1_Silent_p.T122T	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	496					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T496T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCAGCCCCACATTATGGGCAC	0.413																																																1	Substitution - coding silent(1)	kidney(1)											137	127	130					10																	60558280		2203	4300	6503	SO:0001819	synonymous_variant	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1488A>G	10.37:g.60558280A>G				Silent	SNP	ENST00000373886.3	37	CCDS31206.1																																																																																				0.413	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		G	60558280	A	G	60558280	2	3	201	1	0	0	0	0	0	0	0	1	1427	204	8	3		3	BICC1	10	60558280	Silent	SNP	A	TCGA-B0-5119-01A-02D-1421-08	38555519	60558280	74976467	38	12301											
OIT3	170392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	74673124	74673124	+	Silent	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr10:74673124T>C	ENST00000334011.5	+	6	1067	c.849T>C	c.(847-849)ggT>ggC	p.G283G		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	283	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G283G(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AGCTGGTTGGTGGCCTGGAGC	0.532																																					Colon(7;19 345 13446 17537)											1	Substitution - coding silent(1)	kidney(1)											168	156	160					10																	74673124		2203	4300	6503	SO:0001819	synonymous_variant	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.849T>C	10.37:g.74673124T>C			A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	CCDS7318.1																																																																																				0.532	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		C	74673124	T	C	74673124	2	2	201	1	0	0	0	0	0	0	0	1	10851	1683	59	3		3	OIT3	10	74673124	Silent	SNP	T	TCGA-B0-5119-01A-02D-1421-08	14114844	74673124	60861623	39	12302											
EIF3M	10480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32610272	32610272	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr11:32610272T>C	ENST00000531120.1	+	3	371	c.308T>C	c.(307-309)cTg>cCg	p.L103P	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M									p.L103P(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TCTCTGAGACTGCAGTTGTAA	0.413																																																1	Substitution - Missense(1)	kidney(1)											145	137	140					11																	32610272		2202	4299	6501	SO:0001583	missense	10480			AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"transport and golgi organization 7 homolog (Drosophila)"	609641	"PCI domain containing 1 (herpesvirus entry mediator)"	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.308T>C	11.37:g.32610272T>C	ENSP00000436049:p.Leu103Pro			Missense_Mutation	SNP	ENST00000531120.1	37	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422489	0.62622	.	.	ENSG00000149100	ENST00000531120;ENST00000323213;ENST00000533439	T;T	0.35605	1.3;1.3	5.92	5.92	0.95590	.	0.110120	0.64402	D	0.000008	T	0.43590	0.1254	M	0.66297	2.02	0.80722	D	1	P	0.48407	0.91	B	0.43575	0.424	T	0.48433	-0.9036	10	0.72032	D	0.01	-14.3888	16.3593	0.83251	0.0:0.0:0.0:1.0	.	103	Q7L2H7	EIF3M_HUMAN	P	103;40;40	ENSP00000436049:L103P;ENSP00000319910:L40P	ENSP00000319910:L40P	L	+	2	0	EIF3M	32566848	1.000000	0.71417	0.984000	0.44739	0.309000	0.27889	7.698000	0.84413	2.267000	0.75376	0.383000	0.25322	CTG		0.413	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		C	32610272	T	C	32610272	3	2	201	1	0	0	0	0	1	0	0	0	5025	1580	55	3	318	3	EIF3M	11	32610272	Missense_Mutation	SNP	T	TCGA-B0-5119-01A-02D-1421-08		32610272	102396244	40	12303											
C11orf74	119710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	36680650	36680650	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr11:36680650C>T	ENST00000334307.5	+	6	695	c.580C>T	c.(580-582)Cct>Tct	p.P194S	C11orf74_ENST00000446510.2_Intron|C11orf74_ENST00000347206.4_Missense_Mutation_p.P120S|C11orf74_ENST00000534635.1_Missense_Mutation_p.P120S	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	194								p.P194S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				CAAGTTTAGTCCTGCAGAGAT	0.393																																																1	Substitution - Missense(1)	kidney(1)											101	95	97					11																	36680650		2202	4298	6500	SO:0001583	missense	119710			AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.580C>T	11.37:g.36680650C>T	ENSP00000334848:p.Pro194Ser		D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	C	3.769	-0.048020	0.07407	.	.	ENSG00000166352	ENST00000334307;ENST00000347206;ENST00000534635	.	.	.	5.78	-2.17	0.07059	.	1.175590	0.06053	N	0.656871	T	0.37812	0.1017	L	0.54323	1.7	0.30083	N	0.809022	B;B	0.20052	0.004;0.041	B;B	0.17722	0.007;0.019	T	0.34576	-0.9823	8	.	.	.	0.219	4.2604	0.10739	0.1389:0.1883:0.5025:0.1703	.	194;120	Q86VG3;Q86VG3-2	CK074_HUMAN;.	S	194;120;120	.	.	P	+	1	0	C11orf74	36637226	0.812000	0.29077	0.652000	0.29579	0.395000	0.30598	-0.058000	0.11750	-0.195000	0.10382	0.650000	0.86243	CCT		0.393	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		T	36680650	C	T	36680650	3	4	201	1	0	0	0	0	1	0	0	0	1664	855	30	2	598	2	C11orf74	11	36680650	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	4070378	36680650	98325866	41	12304											
SAPS3	55291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68312471	68312471	+	Silent	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr11:68312471T>C	ENST00000393800.2	+	4	647	c.393T>C	c.(391-393)ctT>ctC	p.L131L	PPP6R3_ENST00000529710.1_Silent_p.L131L|PPP6R3_ENST00000265637.4_Silent_p.L131L|PPP6R3_ENST00000524845.1_Silent_p.L131L|PPP6R3_ENST00000393799.2_Silent_p.L131L|PPP6R3_ENST00000524904.1_Silent_p.L131L|PPP6R3_ENST00000527403.2_Silent_p.L131L|PPP6R3_ENST00000393801.3_Silent_p.L131L|PPP6R3_ENST00000534534.1_Silent_p.L40L|PPP6R3_ENST00000265636.5_Silent_p.L131L	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	131					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.L131L(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAAGTATTCTTATCAGCAGAA	0.393																																																2	Substitution - coding silent(2)	kidney(2)											84	86	85					11																	68312471		2200	4294	6494	SO:0001819	synonymous_variant	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.393T>C	11.37:g.68312471T>C			Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	CCDS53672.1																																																																																				0.393	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		C	68312471	T	C	68312471	2	2	201	1	0	0	0	0	0	0	0	1	13844	1741	61	3		3	SAPS3	11	68312471	Silent	SNP	T	TCGA-B0-5119-01A-02D-1421-08	31631821	68312471	66694045	42	12305											
PPP2R1B	5519	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111624212	111624212	+	Silent	SNP	G	G	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr11:111624212G>T	ENST00000527614.1	-	9	1184	c.1119C>A	c.(1117-1119)acC>acA	p.T373T	PPP2R1B_ENST00000427203.2_Silent_p.T212T|PPP2R1B_ENST00000311129.5_Silent_p.T373T|PPP2R1B_ENST00000426998.2_Silent_p.T309T|PPP2R1B_ENST00000393055.2_Silent_p.T246T|PPP2R1B_ENST00000341980.6_Intron	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	373					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)		p.T373T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GATGTTCAATGGTATTTTCTT	0.333																																																1	Substitution - coding silent(1)	kidney(1)											95	90	92					11																	111624212		2201	4297	6498	SO:0001819	synonymous_variant	5519			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1119C>A	11.37:g.111624212G>T			A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	ENST00000527614.1	37	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	8.539	0.872917	0.17322	.	.	ENSG00000137713	ENST00000531890	.	.	.	5.73	4.82	0.62117	.	.	.	.	.	T	0.58061	0.2096	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56541	-0.7962	4	.	.	.	-12.9089	7.4371	0.27162	0.084:0.0:0.7506:0.1654	.	.	.	.	N	74	.	.	H	-	1	0	PPP2R1B	111129422	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	0.991000	0.29654	1.423000	0.47198	0.655000	0.94253	CAT		0.333	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		T	111624212	G	T	111624212	2	4	201	1	0	0	0	0	0	0	0	1	12388	1335	47	4		4	PPP2R1B	11	111624212	Silent	SNP	G	TCGA-B0-5119-01A-02D-1421-08	43311741	111624212	23382304	43	12306											
SLC11A2	4891	hgsc.bcm.edu;ucsc.edu	37	12	51384633	51384636	+	Frame_Shift_Del	DEL	AATG	AATG	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	AATG	AATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr12:51384633_51384636delAATG	ENST00000262051.7	-	15	1604_1607	c.1517_1520delCATT	c.(1516-1521)gcattafs	p.AL506fs	SLC11A2_ENST00000546743.1_Frame_Shift_Del_p.AL427fs|SLC11A2_ENST00000545993.2_Frame_Shift_Del_p.AL502fs|SLC11A2_ENST00000541174.2_Frame_Shift_Del_p.AL506fs|SLC11A2_ENST00000547198.1_Frame_Shift_Del_p.AL506fs|SLC11A2_ENST00000547688.1_Frame_Shift_Del_p.AL535fs|SLC11A2_ENST00000394904.3_Frame_Shift_Del_p.AL535fs|SLC11A2_ENST00000262052.5_Frame_Shift_Del_p.AL506fs	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	506					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CACCACATATAATGCCACATGCCC	0.495																																																0																																										SO:0001589	frameshift_variant	4891			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"Solute carriers"	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.1517_1520delCATT	12.37:g.51384633_51384636delAATG	ENSP00000262051:p.Ala506fs		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Frame_Shift_Del	DEL	ENST00000262051.7	37	CCDS53792.1																																																																																				0.495	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			-	51384636	AATG	-	51384633	7	5	201	1	0	1	0	1	0	0	0	0	14387	372	13	0	255	0	SLC11A2	12	51384633	Frame_Shift_Del	DEL	AATG	TCGA-B0-5119-01A-02D-1421-08		51384633	82467262	44	12307											
DCN	1634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	91545456	91545456	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr12:91545456C>A	ENST00000052754.5	-	7	1361	c.860G>T	c.(859-861)gGg>gTg	p.G287V	DCN_ENST00000228329.5_Missense_Mutation_p.G178V|DCN_ENST00000393155.1_Missense_Mutation_p.G287V|DCN_ENST00000552962.1_Missense_Mutation_p.G287V|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.G140V|DCN_ENST00000425043.1_Missense_Mutation_p.G140V|DCN_ENST00000420120.2_Missense_Mutation_p.G178V|DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	287					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.G287V(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CTCTGCCAGCCCACCAGGTAC	0.502																																																1	Substitution - Missense(1)	kidney(1)											138	111	121					12																	91545456		2203	4300	6503	SO:0001583	missense	1634			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.860G>T	12.37:g.91545456C>A	ENSP00000052754:p.Gly287Val		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.042046|5.042046	0.93685|0.93685	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391|ENST00000550758	T;T;T;T;T;T;T;T|.	0.04654|.	3.58;3.58;3.58;4.23;3.58;3.58;4.23;4.23|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82628|0.82628	0.5078|0.5078	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.997;0.997;1.0|.	T|T	0.83144|0.83144	-0.0107|-0.0107	10|5	0.87932|.	D|.	0|.	.|.	19.5451|19.5451	0.95291|0.95291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	287;140;178|.	P07585;P07585-3;P07585-2|.	PGS2_HUMAN;.;.|.	V|C	287;178;287;140;287;178;140;140|56	ENSP00000052754:G287V;ENSP00000228329:G178V;ENSP00000376862:G287V;ENSP00000401021:G140V;ENSP00000447654:G287V;ENSP00000413723:G178V;ENSP00000447674:G140V;ENSP00000446530:G140V|.	ENSP00000052754:G287V|.	G|W	-|-	2|3	0|0	DCN|DCN	90069587|90069587	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.970000|0.970000	0.65996|0.65996	7.776000|7.776000	0.85560|0.85560	2.789000|2.789000	0.95967|0.95967	0.591000|0.591000	0.81541|0.81541	GGG|TGG		0.502	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		A	91545456	C	A	91545456	3	1	201	1	0	0	0	0	1	0	0	0	4299	623	22	4	227	4	DCN	12	91545456	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	40160823	91545456	42306439	45	12308											
NOS1	4842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117703219	117703219	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr12:117703219C>T	ENST00000338101.4	-	11	2042	c.2038G>A	c.(2038-2040)Gac>Aac	p.D680N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.D680N			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.D680N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CACACCCAGTCGGCAGGGCAG	0.587																																					Esophageal Squamous(162;1748 2599 51982 52956)											1	Substitution - Missense(1)	kidney(1)											30	34	33					12																	117703219		2122	4266	6388	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2038G>A	12.37:g.117703219C>T	ENSP00000337459:p.Asp680Asn			Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	36	5.758047	0.96898	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.35421	1.31;1.31	5.37	5.37	0.77165	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66674	-0.5864	10	0.87932	D	0	-54.3802	18.8892	0.92391	0.0:1.0:0.0:0.0	.	680	P29475	NOS1_HUMAN	N	575;680;680;680	ENSP00000320758:D680N;ENSP00000337459:D680N	ENSP00000320758:D680N	D	-	1	0	NOS1	116187602	1.000000	0.71417	0.980000	0.43619	0.979000	0.70002	7.564000	0.82326	2.793000	0.96121	0.655000	0.94253	GAC		0.587	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			T	117703219	C	T	117703219	3	4	201	1	0	0	0	0	1	0	0	0	10543	884	31	1	2338	1	NOS1	12	117703219	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	26157763	117703219	16148676	46	12309											
DNAH10	196385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124272412	124272412	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr12:124272412A>T	ENST00000409039.3	+	10	1325	c.1300A>T	c.(1300-1302)Aaa>Taa	p.K434*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	434	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K252*(1)|p.K434*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGGCTGTGGAAAAAGGCCTA	0.557																																																2	Substitution - Nonsense(2)	kidney(2)											53	52	52					12																	124272412		2203	4300	6503	SO:0001587	stop_gained	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1300A>T	12.37:g.124272412A>T	ENSP00000386770:p.Lys434*		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	37	6.086269	0.97271	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.55	5.55	0.83447	.	0.157441	0.39759	N	0.001264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2581	0.66065	1.0:0.0:0.0:0.0	.	.	.	.	X	434	.	ENSP00000386770:K434X	K	+	1	0	DNAH10	122838365	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	9.251000	0.95483	2.102000	0.63906	0.459000	0.35465	AAA		0.557	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			T	124272412	A	T	124272412	4	4	201	1	0	0	0	0	0	1	0	0	4600	247	9	5	1338	5	DNAH10	12	124272412	Nonsense_Mutation	SNP	A	TCGA-B0-5119-01A-02D-1421-08	6569193	124272412	9579483	47	12310											
CHFR	55743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133435664	133435664	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr12:133435664C>T	ENST00000432561.2	-	8	1010	c.937G>A	c.(937-939)Gac>Aac	p.D313N	CHFR_ENST00000443047.2_Missense_Mutation_p.D221N|CHFR_ENST00000450056.2_Missense_Mutation_p.D301N|CHFR_ENST00000266880.7_Missense_Mutation_p.D313N|CHFR_ENST00000537522.1_5'Flank|CHFR_ENST00000315585.7_Missense_Mutation_p.D272N|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	313					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D272N(1)|p.D313N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTCACGCAGTCGTGCAGCAGG	0.612																																																2	Substitution - Missense(2)	kidney(2)											210	121	151					12																	133435664		2203	4300	6503	SO:0001583	missense	55743			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.937G>A	12.37:g.133435664C>T	ENSP00000392395:p.Asp313Asn		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919901	0.73098	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000541228;ENST00000432561	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.49	3.64	0.41730	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	L	0.37507	1.11	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;0.986;0.989;0.964;0.992	D;P;D;P;P	0.77004	0.989;0.903;0.941;0.724;0.759	T	0.49835	-0.8897	10	0.66056	D	0.02	-13.3146	10.5421	0.45039	0.1333:0.7975:0.0:0.0692	.	221;313;313;301;272	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	N	272;221;301;313;113;313	ENSP00000320557:D272N;ENSP00000416431:D221N;ENSP00000398735:D301N;ENSP00000266880:D313N;ENSP00000392395:D313N	ENSP00000266880:D313N	D	-	1	0	CHFR	131945737	1.000000	0.71417	0.566000	0.28421	0.427000	0.31564	7.255000	0.78338	0.658000	0.30925	0.655000	0.94253	GAC		0.612	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			T	133435664	C	T	133435664	3	4	201	1	0	0	0	0	1	0	0	0	3339	884	31	1	1101	1	CHFR	12	133435664	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	9163252	133435664	416231	48	12311											
USPL1	10208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	31232080	31232081	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr13:31232080_31232081delCA	ENST00000255304.4	+	9	2208_2209	c.1866_1867delCA	c.(1864-1869)accaatfs	p.N623fs		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	623					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTCTCAAAACCAATACTTTGCT	0.347																																					Ovarian(60;318 1180 1554 28110 31601)											0																																										SO:0001589	frameshift_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1866_1867delCA	13.37:g.31232080_31232081delCA	ENSP00000255304:p.Asn623fs		Q14109|Q6AI45|Q8IY30|Q8IYE8	Frame_Shift_Del	DEL	ENST00000255304.4	37	CCDS9336.1																																																																																				0.347	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		-	31232081	CA	-	31232080	7	5	201	1	0	1	0	1	0	0	0	0	17097	581	21	0	1896	0	USPL1	13	31232080	Frame_Shift_Del	DEL	CA	TCGA-B0-5119-01A-02D-1421-08		31232080	83937798	49	12312											
C13orf18	80183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	46919734	46919734	+	Splice_Site	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr13:46919734C>A	ENST00000429979.1	-	13	2237	c.1633G>T	c.(1633-1635)Gca>Tca	p.A545S	KIAA0226L_ENST00000378784.4_Splice_Site_p.A478S|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000389908.3_Splice_Site_p.A545S|KIAA0226L_ENST00000322896.6_Splice_Site_p.A388S|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000534925.1_Splice_Site_p.A410S|KIAA0226L_ENST00000409879.2_Splice_Site_p.A388S	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	545								p.A545S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCCTTTAATGCACTGCCAGAG	0.517																																																1	Substitution - Missense(1)	kidney(1)											37	36	36					13																	46919734		1924	4128	6052	SO:0001630	splice_region_variant	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1632-1G>T	13.37:g.46919734C>A			A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126426	0.56721	.	.	ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T	0.44482	0.92;0.92;0.92;0.93	5.35	-2.22	0.06952	.	.	.	.	.	T	0.37489	0.1005	L	0.56769	1.78	0.22975	N	0.998487	B;B;B;B;B	0.29805	0.257;0.257;0.257;0.157;0.217	B;B;B;B;B	0.36030	0.158;0.158;0.216;0.158;0.138	T	0.41893	-0.9483	9	0.10111	T	0.7	0.2713	12.1964	0.54300	0.0:0.5374:0.0:0.4626	.	388;388;545;410;478	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.;.;K226L_HUMAN;.;.	S	545;478;545;388;388;410	ENSP00000396935:A545S;ENSP00000368061:A478S;ENSP00000374558:A545S;ENSP00000437501:A410S	ENSP00000315633:A388S	A	-	1	0	KIAA0226L	45817735	0.000000	0.05858	0.001000	0.08648	0.520000	0.34377	-0.171000	0.09883	-0.368000	0.08040	0.655000	0.94253	GCA		0.517	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113	Missense_Mutation	A	46919734	C	A	46919734	5	1	201	1	0	0	0	0	0	0	1	0	1722	724	25	4	367	4	C13orf18	13	46919734	Splice_Site	SNP	C	TCGA-B0-5119-01A-02D-1421-08	15687654	46919734	68250144	50	12313											
PCDH20	64881	hgsc.bcm.edu;ucsc.edu	37	13	61985426	61985426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr13:61985426delT	ENST00000409186.1	-	5	4911	c.2806delA	c.(2806-2808)attfs	p.I936fs	PCDH20_ENST00000409204.4_Frame_Shift_Del_p.I936fs			Q8N6Y1	PCD20_HUMAN	protocadherin 20	936					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGCAAGTCAATTTTTCCTTTC	0.373																																																0													93	88	90					13																	61985426		2203	4300	6503	SO:0001589	frameshift_variant	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2806delA	13.37:g.61985426delT	ENSP00000386653:p.Ile936fs		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Frame_Shift_Del	DEL	ENST00000409186.1	37	CCDS9442.2																																																																																				0.373	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		-	61985426	T	-	61985426	7	5	201	1	0	1	0	1	0	0	0	0	11517	1493	52	0	53	0	PCDH20	13	61985426	Frame_Shift_Del	DEL	T	TCGA-B0-5119-01A-02D-1421-08	15065692	61985426	53184452	51	12314											
PCDH20	64881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	61985497	61985497	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr13:61985497C>G	ENST00000409186.1	-	5	4840	c.2735G>C	c.(2734-2736)tGt>tCt	p.C912S	PCDH20_ENST00000409204.4_Missense_Mutation_p.C912S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	912					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.C912S(1)|p.C885S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTTCCTTAAACAGATGTATAT	0.433																																																2	Substitution - Missense(2)	kidney(2)											89	78	82					13																	61985497		2203	4300	6503	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2735G>C	13.37:g.61985497C>G	ENSP00000386653:p.Cys912Ser		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266329	0.80358	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.58652	0.32;0.32	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.68284	0.2984	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.61019	-0.7147	10	0.27082	T	0.32	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	912	A8K1K9	.	S	912;912;658	ENSP00000387250:C912S;ENSP00000386653:C912S	ENSP00000351500:C658S	C	-	2	0	PCDH20	60883498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.885000	0.99019	0.655000	0.94253	TGT		0.433	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		G	61985497	C	G	61985497	3	3	201	1	0	0	0	0	1	0	0	0	11517	478	17	4	124	4	PCDH20	13	61985497	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	71	61985497	53184381	52	12315											
C13orf34	79866	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	73309117	73309117	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr13:73309117G>C	ENST00000390667.5	+	4	377	c.280G>C	c.(280-282)Gac>Cac	p.D94H	BORA_ENST00000464754.1_Intron|BORA_ENST00000377815.3_Missense_Mutation_p.D24H	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	94					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)	p.D94H(1)									AGATGTGGAAGACAAAAGACA	0.274																																																1	Substitution - Missense(1)	kidney(1)											95	94	94					13																	73309117		1829	4086	5915	SO:0001583	missense	0			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"chromosome 13 open reading frame 34"	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.280G>C	13.37:g.73309117G>C	ENSP00000375082:p.Asp94His		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	CCDS9446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.84|18.84	3.708481|3.708481	0.68615|0.68615	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000377815;ENST00000390667|ENST00000377814	T;T|.	0.32753|.	1.44;1.44|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.045114|.	0.85682|.	D|.	0.000000|.	T|T	0.69405|0.69405	0.3107|0.3107	L|L	0.48362|0.48362	1.52|1.52	0.50632|0.50632	D|D	0.999882|0.999882	D;P;P|.	0.76494|.	0.999;0.908;0.908|.	D;P;P|.	0.70935|.	0.971;0.497;0.497|.	T|T	0.64533|0.64533	-0.6385|-0.6385	10|5	0.72032|.	D|.	0.01|.	-19.7013|-19.7013	18.7849|18.7849	0.91951|0.91951	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	24;94;94|.	B4DQ30;A8K631;Q6PGQ7|.	.;.;BORA_HUMAN|.	H|T	24;94|71	ENSP00000367046:D24H;ENSP00000375082:D94H|.	ENSP00000367046:D24H|.	D|R	+|+	1|2	0|0	BORA|BORA	72207118|72207118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.235000|7.235000	0.78143|0.78143	2.757000|2.757000	0.94681|0.94681	0.585000|0.585000	0.79938|0.79938	GAC|AGA		0.274	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		C	73309117	G	C	73309117	3	2	201	1	0	0	0	0	1	0	0	0	1730	942	33	4	290	4	C13orf34	13	73309117	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08	11323620	73309117	41860761	53	12316											
AKAP6	9472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	33292027	33292028	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr14:33292027_33292028GG>TT	ENST00000280979.4	+	13	5178_5179	c.5008_5009GG>TT	c.(5008-5010)GGc>TTc	p.G1670F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1670	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.G1670C(1)|p.G1670>?(1)|p.G1670V(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCCTTTACTGGCCAGATGTCA	0.436																																					Melanoma(49;821 1200 7288 13647 42351)											3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	Exception_encountered	14.37:g.33292027_33292028delinsTT	ENSP00000280979:p.Gly1670Phe		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.436	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		TT	33292028	GG	TT	33292027	3	4	201	1	0	0	0	0	1	0	0	0	455	1348	47	4	5054	4	AKAP6	14	33292027	Missense_Mutation	DNP	GG	TCGA-B0-5119-01A-02D-1421-08		33292027	74057513	54	12317											
WDR25	79446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	100847489	100847489	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr14:100847489T>A	ENST00000335290.6	+	2	454	c.228T>A	c.(226-228)taT>taA	p.Y76*	WDR25_ENST00000402312.3_Nonsense_Mutation_p.Y76*|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554998.1_Nonsense_Mutation_p.Y76*|WDR25_ENST00000554175.1_Nonsense_Mutation_p.Y76*	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	76								p.Y76*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CAGGGGGCTATCGCCTTCCAT	0.597																																																1	Substitution - Nonsense(1)	kidney(1)											47	47	47					14																	100847489		2203	4300	6503	SO:0001587	stop_gained	79446			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.228T>A	14.37:g.100847489T>A	ENSP00000334148:p.Tyr76*		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Nonsense_Mutation	SNP	ENST00000335290.6	37	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	T	32	5.144855	0.94603	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	.	.	.	5.53	-9.84	0.00479	.	2.387120	0.01190	N	0.007304	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.366	5.1522	0.15015	0.0932:0.2327:0.517:0.157	.	.	.	.	X	76	.	ENSP00000334148:Y76X	Y	+	3	2	WDR25	99917242	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.350000	0.02624	-1.486000	0.01851	0.533000	0.62120	TAT		0.597	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		A	100847489	T	A	100847489	4	1	201	1	0	0	0	0	0	1	0	0	17287	1442	50	5	230	5	WDR25	14	100847489	Nonsense_Mutation	SNP	T	TCGA-B0-5119-01A-02D-1421-08	67555462	100847489	6502051	55	12318											
TJP1	7082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	30012148	30012148	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr15:30012148T>A	ENST00000346128.6	-	20	3310	c.2836A>T	c.(2836-2838)Aat>Tat	p.N946Y	TJP1_ENST00000356107.6_Missense_Mutation_p.N946Y|TJP1_ENST00000545208.2_Intron|TJP1_ENST00000400011.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	946					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.N946Y(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACATTATGATTAACAGCAGAG	0.408																																					Melanoma(77;681 1843 6309 6570)											1	Substitution - Missense(1)	kidney(1)											129	122	124					15																	30012148		1876	4108	5984	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2836A>T	15.37:g.30012148T>A	ENSP00000281537:p.Asn946Tyr		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578473	0.46006	.	.	ENSG00000104067	ENST00000346128;ENST00000545208	T	0.06687	3.27	6.17	3.88	0.44766	.	0.384817	0.32386	N	0.006172	T	0.09992	0.0245	L	0.51422	1.61	0.80722	D	1	B;B	0.29805	0.257;0.257	B;B	0.32289	0.143;0.1	T	0.06180	-1.0841	10	0.66056	D	0.02	.	9.8504	0.41053	0.0:0.1369:0.0:0.8631	.	939;946	A9CQZ8;Q07157	.;ZO1_HUMAN	Y	946	ENSP00000281537:N946Y	ENSP00000281537:N946Y	N	-	1	0	TJP1	27799440	1.000000	0.71417	0.498000	0.27564	0.987000	0.75469	1.816000	0.38992	0.568000	0.29311	0.533000	0.62120	AAT		0.408	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		A	30012148	T	A	30012148	3	1	201	1	0	0	0	0	1	0	0	0	15934	1754	61	5	2446	5	TJP1	15	30012148	Missense_Mutation	SNP	T	TCGA-B0-5119-01A-02D-1421-08		30012148	72519244	56	12319											
RAD51	5888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40993342	40993342	+	Silent	SNP	A	A	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr15:40993342A>T	ENST00000267868.3	+	3	436	c.168A>T	c.(166-168)ccA>ccT	p.P56P	RAD51_ENST00000423169.2_Silent_p.P56P|RAD51_ENST00000382643.3_Silent_p.P56P|RAD51_ENST00000557850.1_Silent_p.P56P|RAD51_ENST00000532743.1_Silent_p.P56P	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	56	HhH.				ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.P56P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		CCTATGCGCCAAAGAAGGAGC	0.408								Homologous recombination																																								1	Substitution - coding silent(1)	kidney(1)											113	118	116					15																	40993342		2203	4300	6503	SO:0001819	synonymous_variant	5888			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.168A>T	15.37:g.40993342A>T			B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Silent	SNP	ENST00000267868.3	37	CCDS10062.1																																																																																				0.408	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		T	40993342	A	T	40993342	2	4	201	1	0	0	0	0	0	0	0	1	12991	117	5	5		5	RAD51	15	40993342	Silent	SNP	A	TCGA-B0-5119-01A-02D-1421-08	10981194	40993342	61538050	57	12320											
MYO5C	55930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52510811	52510811	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr15:52510811C>T	ENST00000261839.7	-	32	4020	c.3859G>A	c.(3859-3861)Gag>Aag	p.E1287K		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1287						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1287K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCACTGGCCTCCTGCATTTCT	0.463																																																1	Substitution - Missense(1)	kidney(1)											105	96	99					15																	52510811		1886	4120	6006	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3859G>A	15.37:g.52510811C>T	ENSP00000261839:p.Glu1287Lys		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103359	0.37145	.	.	ENSG00000128833	ENST00000261839	T	0.23950	1.88	6.11	3.22	0.36961	.	0.379749	0.28236	N	0.016089	T	0.13586	0.0329	N	0.19112	0.55	0.09310	N	0.999998	B	0.27559	0.181	B	0.18561	0.022	T	0.19516	-1.0303	10	0.30078	T	0.28	.	7.6044	0.28093	0.0:0.7216:0.1352:0.1433	.	1287	Q9NQX4	MYO5C_HUMAN	K	1287	ENSP00000261839:E1287K	ENSP00000261839:E1287K	E	-	1	0	MYO5C	50298103	0.998000	0.40836	0.001000	0.08648	0.741000	0.42261	2.216000	0.42871	0.459000	0.27016	0.655000	0.94253	GAG		0.463	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		T	52510811	C	T	52510811	3	4	201	1	0	0	0	0	1	0	0	0	10082	864	30	2	1409	2	MYO5C	15	52510811	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	11517469	52510811	50020581	58	12321											
ACAN	176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89382024	89382024	+	Silent	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr15:89382024C>G	ENST00000561243.1	+	2	201	c.201C>G	c.(199-201)gcC>gcG	p.A67A	ACAN_ENST00000352105.7_Silent_p.A67A|ACAN_ENST00000559004.1_Silent_p.A67A|ACAN_ENST00000439576.2_Silent_p.A67A|ACAN_ENST00000558207.1_Silent_p.A67A			P16112	PGCA_HUMAN	aggrecan	67	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.A67A(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCTACCGCCCCACTGGCCC	0.637																																																2	Substitution - coding silent(2)	kidney(2)											82	95	91					15																	89382024		2027	4173	6200	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.201C>G	15.37:g.89382024C>G			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																				0.637	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		G	89382024	C	G	89382024	2	3	201	1	0	0	0	0	0	0	0	1	117	610	22	4		4	ACAN	15	89382024	Silent	SNP	C	TCGA-B0-5119-01A-02D-1421-08	36871213	89382024	13149368	59	12322											
POLR3K	51728	hgsc.bcm.edu	37	16	103487	103489	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:103487_103489delTGT	ENST00000293860.5	-	1	139_141	c.98_100delACA	c.(97-102)aacatc>atc	p.N33del	SNRNP25_ENST00000383018.3_5'Flank	NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	33					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TTGCGGGTGATGTTGTGCACGTA	0.7											OREG0003710	type=REGULATORY REGION|Gene=C16orf33|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0																																										SO:0001651	inframe_deletion	51728			AF051316	CCDS10395.1	16p13.3	2013-01-21	2002-08-29		ENSG00000161980	ENSG00000161980		"RNA polymerase subunits"	14121	protein-coding gene	gene with protein product		606007	"polymerase (RNA) III (DNA directed) polypeptide K (12.3 kDa)"			9869639, 10079944	Standard	NM_016310		Approved	RPC11	uc002cfi.2	Q9Y2Y1	OTTHUMG00000060722	ENST00000293860.5:c.98_100delACA	16.37:g.103490_103492delTGT	ENSP00000293860:p.Asn33del	585	Q1W6H4|Q96S35	In_Frame_Del	DEL	ENST00000293860.5	37	CCDS10395.1																																																																																				0.7	POLR3K-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134192.1	NM_016310		-	103489	TGT	-	103487	7	5	201	1	0	1	0	1	0	0	0	0	12239	1464	51	0	238	0	POLR3K	16	103487	In_Frame_Del	DEL	TGT	TCGA-B0-5119-01A-02D-1421-08		103487	90251266	60	12323											
SOLH	6650	hgsc.bcm.edu	37	16	601338	601338	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:601338G>A	ENST00000219611.2	+	8	2466	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	701	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGGGCAACATGAAGGTGGACG	0.687																																																0													43	52	49					16																	601338		2198	4298	6496	SO:0001583	missense	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2103G>A	16.37:g.601338G>A	ENSP00000219611:p.Met701Ile		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.687381	0.88639	.	.	ENSG00000103326	ENST00000219611	D	0.87256	-2.23	5.36	5.36	0.76844	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	L	0.58428	1.81	0.80722	D	1	D	0.60575	0.988	D	0.75020	0.985	D	0.92396	0.5925	10	0.59425	D	0.04	.	17.6567	0.88180	0.0:0.0:1.0:0.0	.	701	O75808	CAN15_HUMAN	I	701	ENSP00000219611:M701I	ENSP00000219611:M701I	M	+	3	0	SOLH	541339	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	9.816000	0.99350	2.509000	0.84616	0.556000	0.70494	ATG		0.687	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		A	601338	G	A	601338	3	1	201	1	0	0	0	0	1	0	0	0	14931	1290	45	2	2121	2	SOLH	16	601338	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08	497851	601338	89753415	61	12324											
TELO2	9894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1552946	1552946	+	Silent	SNP	G	G	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:1552946G>T	ENST00000262319.6	+	15	2064	c.1785G>T	c.(1783-1785)ctG>ctT	p.L595L	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	595					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.L595L(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCGACTATCTGACCTCACAGT	0.657																																																1	Substitution - coding silent(1)	kidney(1)											152	142	145					16																	1552946		2199	4300	6499	SO:0001819	synonymous_variant	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1785G>T	16.37:g.1552946G>T			D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	CCDS32363.1																																																																																				0.657	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		T	1552946	G	T	1552946	2	4	201	1	0	0	0	0	0	0	0	1	15762	1277	45	4		4	TELO2	16	1552946	Silent	SNP	G	TCGA-B0-5119-01A-02D-1421-08	951608	1552946	88801807	62	12325											
UBN1	29855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4903144	4903144	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:4903144A>C	ENST00000396658.4	+	1	929	c.226A>C	c.(226-228)Aaa>Caa	p.K76Q	UBN1_ENST00000590769.1_Missense_Mutation_p.K76Q|UBN1_ENST00000262376.6_Missense_Mutation_p.K76Q|UBN1_ENST00000545171.1_Missense_Mutation_p.K76Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	76	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K76Q(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGGGAAGGTAAAAGGCCTTCA	0.537																																																1	Substitution - Missense(1)	kidney(1)											72	71	72					16																	4903144		2197	4300	6497	SO:0001583	missense	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.226A>C	16.37:g.4903144A>C	ENSP00000379894:p.Lys76Gln		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109393	0.77096	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.50548	1.33;0.74;1.33	5.98	5.98	0.97165	.	0.352689	0.33401	N	0.004951	T	0.63319	0.2501	M	0.72479	2.2	0.42316	D	0.992239	D;D	0.59767	0.986;0.976	P;P	0.55391	0.775;0.601	T	0.67829	-0.5569	10	0.72032	D	0.01	-6.8587	16.4696	0.84102	1.0:0.0:0.0:0.0	.	76;76	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	Q	76	ENSP00000262376:K76Q;ENSP00000442379:K76Q;ENSP00000379894:K76Q	ENSP00000262376:K76Q	K	+	1	0	UBN1	4843145	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.031000	0.70911	2.289000	0.77006	0.482000	0.46254	AAA		0.537	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		C	4903144	A	C	4903144	3	2	201	1	0	0	0	0	1	0	0	0	16897	15	1	5	228	5	UBN1	16	4903144	Missense_Mutation	SNP	A	TCGA-B0-5119-01A-02D-1421-08	3350198	4903144	85451609	63	12326											
C16orf62	57020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	19576270	19576270	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:19576270A>C	ENST00000251143.5	+	2	127	c.115A>C	c.(115-117)Act>Cct	p.T39P	C16orf62_ENST00000417362.2_Missense_Mutation_p.T39P|C16orf62_ENST00000542263.1_Missense_Mutation_p.T128P|C16orf62_ENST00000538853.1_Missense_Mutation_p.T128P|C16orf62_ENST00000438132.3_Missense_Mutation_p.T128P			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	39						integral component of membrane (GO:0016021)		p.T39P(1)|p.T128P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GAAACCCATAACTGTAAGTTT	0.433																																																2	Substitution - Missense(2)	kidney(2)											99	88	92					16																	19576270		2197	4300	6497	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.115A>C	16.37:g.19576270A>C	ENSP00000251143:p.Thr39Pro		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37		.	.	.	.	.	.	.	.	.	.	A	24.3	4.515598	0.85389	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.42	5.42	0.78866	.	0.058198	0.64402	D	0.000002	T	0.61540	0.2355	M	0.67397	2.05	0.80722	D	1	P;D;D	0.63880	0.763;0.974;0.993	B;P;P	0.56563	0.35;0.663;0.801	T	0.66139	-0.5998	10	0.72032	D	0.01	-12.7377	14.632	0.68663	1.0:0.0:0.0:0.0	.	128;39;128	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	P	128;128;128;39;39	ENSP00000400815:T128P;ENSP00000444363:T128P;ENSP00000442468:T128P;ENSP00000251143:T39P;ENSP00000395973:T39P	ENSP00000251143:T39P	T	+	1	0	C16orf62	19483771	1.000000	0.71417	0.957000	0.39632	0.953000	0.61014	7.725000	0.84808	2.056000	0.61249	0.374000	0.22700	ACT		0.433	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		C	19576270	A	C	19576270	3	2	201	1	0	0	0	0	1	0	0	0	1827	43	2	5	121	5	C16orf62	16	19576270	Missense_Mutation	SNP	A	TCGA-B0-5119-01A-02D-1421-08	14673126	19576270	70778483	64	12327											
LOC81691	81691	broad.mit.edu;ucsc.edu	37	16	20851655	20851655	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:20851655G>T	ENST00000261377.6	+	15	1700	c.1491G>T	c.(1489-1491)atG>atT	p.M497I	AC004381.6_ENST00000564274.1_Missense_Mutation_p.M497I|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.M497I	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2												p.M497I(1)									TCCTACAGATGAGGATCAAGT	0.388																																																1	Substitution - Missense(1)	kidney(1)											87	83	84					16																	20851655		2201	4300	6501	SO:0001583	missense	81691																														ENST00000261377.6:c.1491G>T	16.37:g.20851655G>T	ENSP00000261377:p.Met497Ile			Missense_Mutation	SNP	ENST00000261377.6	37	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	9.253	1.041183	0.19669	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.32272	1.46;1.87	4.98	4.02	0.46733	.	0.321656	0.31909	N	0.006874	T	0.24236	0.0587	L	0.41824	1.3	0.32133	N	0.586449	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.17531	-1.0366	10	0.33141	T	0.24	-12.0692	10.6023	0.45373	0.0918:0.0:0.9082:0.0	.	497;497	Q96IC2-2;Q96IC2	.;REXON_HUMAN	I	497	ENSP00000261378:M497I;ENSP00000261377:M497I	ENSP00000261377:M497I	M	+	3	0	AC004381.6	20759156	1.000000	0.71417	0.531000	0.27976	0.209000	0.24338	3.421000	0.52742	1.084000	0.41184	0.462000	0.41574	ATG		0.388	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			T	20851655	G	T	20851655	3	4	201	1	0	0	0	0	1	0	0	0	8892	1290	45	4	1545	4	LOC81691	16	20851655	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08	1275385	20851655	69503098	65	12328											
SHCBP1	79801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	46652119	46652119	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:46652119delA	ENST00000303383.3	-	2	535	c.269delT	c.(268-270)ttafs	p.L90fs	SHCBP1_ENST00000564272.1_5'Flank	NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	90					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTACTCACCTAAAATGTAATC	0.413																																																0													49	51	51					16																	46652119		2202	4299	6501	SO:0001589	frameshift_variant	79801			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.269delT	16.37:g.46652119delA	ENSP00000306473:p.Leu90fs		Q96N60|Q9BVS0|Q9H6P6	Frame_Shift_Del	DEL	ENST00000303383.3	37	CCDS10720.1																																																																																				0.413	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		-	46652119	A	-	46652119	7	5	201	1	0	1	0	1	0	0	0	0	14280	372	13	0	1797	0	SHCBP1	16	46652119	Frame_Shift_Del	DEL	A	TCGA-B0-5119-01A-02D-1421-08	25800464	46652119	43702634	66	12329											
SPG7	6687	hgsc.bcm.edu;ucsc.edu	37	16	89616935	89616935	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:89616935delA	ENST00000268704.2	+	13	1712	c.1697delA	c.(1696-1698)gaafs	p.E567fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	567					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGTCCAAGGAAGAACAGAAA	0.592																																																0													115	106	109					16																	89616935		2198	4300	6498	SO:0001589	frameshift_variant	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1697delA	16.37:g.89616935delA	ENSP00000268704:p.Glu567fs		O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Del	DEL	ENST00000268704.2	37	CCDS10977.1																																																																																				0.592	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		-	89616935	A	-	89616935	7	5	201	1	0	1	0	1	0	0	0	0	15049	246	9	0	1897	0	SPG7	16	89616935	Frame_Shift_Del	DEL	A	TCGA-B0-5119-01A-02D-1421-08	42964816	89616935	737818	67	12330											
PRPF8	10594	broad.mit.edu;ucsc.edu	37	17	1582621	1582621	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr17:1582621G>A	ENST00000572621.1	-	9	1638	c.1373C>T	c.(1372-1374)gCc>gTc	p.A458V	PRPF8_ENST00000304992.6_Missense_Mutation_p.A458V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	458					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.A458V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCTTCAGGGCATTCAGCAC	0.537																																																1	Substitution - Missense(1)	kidney(1)											78	84	82					17																	1582621		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1373C>T	17.37:g.1582621G>A	ENSP00000460348:p.Ala458Val		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380448	0.95945	.	.	ENSG00000174231	ENST00000304992	T	0.80214	-1.35	5.96	5.96	0.96718	PROCN (1);	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	L	0.53249	1.67	0.80722	D	1	B	0.19445	0.036	B	0.29077	0.098	T	0.75371	-0.3341	10	0.51188	T	0.08	-8.5153	20.4084	0.99013	0.0:0.0:1.0:0.0	.	458	Q6P2Q9	PRP8_HUMAN	V	458	ENSP00000304350:A458V	ENSP00000304350:A458V	A	-	2	0	PRPF8	1529371	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.835000	0.99442	2.833000	0.97629	0.650000	0.86243	GCC		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			A	1582621	G	A	1582621	3	1	201	1	0	0	0	0	1	0	0	0	12580	1203	42	2	5770	2	PRPF8	17	1582621	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08		1582621	79612589	68	12331											
CACNA1G	8913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48652948	48652948	+	Silent	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr17:48652948C>T	ENST00000359106.5	+	8	1185	c.1185C>T	c.(1183-1185)gcC>gcT	p.A395A	CACNA1G_ENST00000360761.4_Silent_p.A395A|CACNA1G_ENST00000514181.1_Silent_p.A395A|CACNA1G_ENST00000514079.1_Silent_p.A395A|CACNA1G_ENST00000503485.1_Silent_p.A395A|CACNA1G_ENST00000442258.2_Silent_p.A395A|CACNA1G_ENST00000507896.1_Silent_p.A395A|CACNA1G_ENST00000505165.1_Silent_p.A395A|CACNA1G_ENST00000507510.2_Silent_p.A395A|CACNA1G_ENST00000513689.2_Silent_p.A395A|CACNA1G_ENST00000429973.2_Silent_p.A395A|CACNA1G_ENST00000352832.5_Silent_p.A395A|CACNA1G_ENST00000510115.1_Silent_p.A395A|CACNA1G_ENST00000507336.1_Silent_p.A395A|CACNA1G_ENST00000416767.4_Silent_p.A395A|CACNA1G_ENST00000515411.1_Silent_p.A395A|CACNA1G_ENST00000514717.1_Silent_p.A395A|CACNA1G_ENST00000515165.1_Silent_p.A395A|CACNA1G_ENST00000512389.1_Silent_p.A395A|CACNA1G_ENST00000354983.4_Silent_p.A395A|CACNA1G_ENST00000513964.1_Silent_p.A395A|CACNA1G_ENST00000502264.1_Silent_p.A395A|CACNA1G_ENST00000515765.1_Silent_p.A395A|CACNA1G_ENST00000507609.1_Silent_p.A395A|CACNA1G_ENST00000358244.5_Silent_p.A395A|CACNA1G_ENST00000510366.1_Silent_p.A395A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	395					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.A395A(4)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGTGATTGCCACGCAGTTCT	0.567																																																4	Substitution - coding silent(4)	kidney(4)											44	47	46					17																	48652948		2163	4271	6434	SO:0001819	synonymous_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1185C>T	17.37:g.48652948C>T			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																				0.567	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		T	48652948	C	T	48652948	2	4	201	1	0	0	0	0	0	0	0	1	2546	581	21	2		2	CACNA1G	17	48652948	Silent	SNP	C	TCGA-B0-5119-01A-02D-1421-08	47070327	48652948	32542262	69	12332											
MRC2	9902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60757631	60757631	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr17:60757631G>A	ENST00000303375.5	+	15	2801	c.2399G>A	c.(2398-2400)tGc>tAc	p.C800Y	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	800	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.C800Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCATGCAGTGCGACACACAG	0.652																																																1	Substitution - Missense(1)	kidney(1)											59	57	58					17																	60757631		2203	4300	6503	SO:0001583	missense	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2399G>A	17.37:g.60757631G>A	ENSP00000307513:p.Cys800Tyr		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843126	0.91197	.	.	ENSG00000011028	ENST00000303375	T	0.60672	0.17	5.41	5.41	0.78517	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88801	0.3285	10	0.87932	D	0	-38.0267	19.1979	0.93696	0.0:0.0:1.0:0.0	.	800	Q9UBG0	MRC2_HUMAN	Y	800	ENSP00000307513:C800Y	ENSP00000307513:C800Y	C	+	2	0	MRC2	58111363	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.229000	0.95273	2.539000	0.85634	0.305000	0.20034	TGC		0.652	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			A	60757631	G	A	60757631	3	1	201	1	0	0	0	0	1	0	0	0	9760	1319	46	2	2457	2	MRC2	17	60757631	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08	12104683	60757631	20437579	70	12333											
RECQL5	9400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73624786	73624786	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr17:73624786T>A	ENST00000317905.5	-	17	2705	c.2546A>T	c.(2545-2547)gAc>gTc	p.D849V	RECQL5_ENST00000423245.2_Missense_Mutation_p.D822V|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	849					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.D822V(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTCCATGTGTCCTTTGCAGG	0.652								Other identified genes with known or suspected DNA repair function																																								1	Substitution - Missense(1)	kidney(1)											71	74	73					17																	73624786		2031	4184	6215	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2546A>T	17.37:g.73624786T>A	ENSP00000317636:p.Asp849Val		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	T	7.112	0.576213	0.13623	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.57907	0.37	5.39	3.15	0.36227	.	0.799263	0.11012	N	0.609387	T	0.36082	0.0954	N	0.14661	0.345	0.80722	D	1	P;P;B	0.34909	0.475;0.475;0.378	B;B;B	0.35607	0.073;0.047;0.206	T	0.14952	-1.0454	10	0.59425	D	0.04	-13.1366	8.4867	0.33076	0.0:0.1661:0.0:0.8339	.	849;822;45	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	V	444;849;849	ENSP00000317636:D849V	ENSP00000317636:D849V	D	-	2	0	RECQL5	71136381	0.859000	0.29813	0.624000	0.29186	0.060000	0.15804	1.089000	0.30890	0.881000	0.35993	0.460000	0.39030	GAC		0.652	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		A	73624786	T	A	73624786	3	1	201	1	0	0	0	0	1	0	0	0	13209	1667	58	5	445	5	RECQL5	17	73624786	Missense_Mutation	SNP	T	TCGA-B0-5119-01A-02D-1421-08	12867155	73624786	7570424	71	12334											
B4GALT6	9331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29207086	29207086	+	Splice_Site	SNP	T	T	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr18:29207086T>G	ENST00000306851.5	-	7	1073		c.e7-2		B4GALT6_ENST00000237019.7_Splice_Site|B4GALT6_ENST00000383131.3_Splice_Site	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.?(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TATGGAAGACTAGAAAAGAAA	0.353																																																1	Unknown(1)	kidney(1)											46	46	46					18																	29207086		2203	4300	6503	SO:0001630	splice_region_variant	9331			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"Beta 4-glycosyltransferases"	929	protein-coding gene	gene with protein product	"UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.777-2A>C	18.37:g.29207086T>G			O60514|Q6NT09	Splice_Site	SNP	ENST00000306851.5	37	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.874107	0.72180	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7112	0.77629	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	B4GALT6	27461084	1.000000	0.71417	0.923000	0.36655	0.793000	0.44817	8.040000	0.89188	2.190000	0.69967	0.528000	0.53228	.		0.353	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775	Intron	G	29207086	T	G	29207086	5	3	201	1	0	0	0	0	0	0	1	0	1275	1536	53	5	385	5	B4GALT6	18	29207086	Splice_Site	SNP	T	TCGA-B0-5119-01A-02D-1421-08		29207086	48870162	72	12335											
KIAA1012	22878	hgsc.bcm.edu;ucsc.edu	37	18	29444658	29444658	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr18:29444658delT	ENST00000283351.4	-	19	3012	c.2677delA	c.(2677-2679)acafs	p.T893fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.T839fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	893					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTAACAGATGTTTTCTCTTCT	0.358																																																0													126	119	121					18																	29444658		2203	4300	6503	SO:0001589	frameshift_variant	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2677delA	18.37:g.29444658delT	ENSP00000283351:p.Thr893fs		A0JP15|B3KME5|Q9H0L2	Frame_Shift_Del	DEL	ENST00000283351.4	37	CCDS11901.1																																																																																				0.358	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		-	29444658	T	-	29444658	7	5	201	1	0	1	0	1	0	0	0	0	8206	1725	60	0	1674	0	KIAA1012	18	29444658	Frame_Shift_Del	DEL	T	TCGA-B0-5119-01A-02D-1421-08	237572	29444658	48632590	73	12336											
STK11	6794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1220429	1220429	+	Silent	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:1220429C>T	ENST00000326873.7	+	4	1695	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		H -> R (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.H174H(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATTGTGCACAAGGACATCA	0.652		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	29	Whole gene deletion(20)|Unknown(4)|Deletion - Frameshift(4)|Substitution - coding silent(1)	cervix(15)|lung(9)|kidney(2)|oesophagus(1)|ovary(1)|pancreas(1)											44	52	49					19																	1220429		2102	4244	6346	SO:0001819	synonymous_variant	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.522C>T	19.37:g.1220429C>T			B2RBX7|E7EW76	Silent	SNP	ENST00000326873.7	37	CCDS45896.1																																																																																				0.652	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		T	1220429	C	T	1220429	2	4	201	1	0	0	0	0	0	0	0	1	15292	477	17	2		2	STK11	19	1220429	Silent	SNP	C	TCGA-B0-5119-01A-02D-1421-08		1220429	57908554	74	12337											
MYO1F	4542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8592225	8592225	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:8592225A>T	ENST00000338257.8	-	22	2738	c.2471T>A	c.(2470-2472)cTc>cAc	p.L824H		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	824	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L824H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCTTCACCTGAGGGAGACTCC	0.557																																																1	Substitution - Missense(1)	kidney(1)											56	63	61					19																	8592225		2109	4217	6326	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2471T>A	19.37:g.8592225A>T	ENSP00000344871:p.Leu824His		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548135	0.86022	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.51817	0.69	5.67	5.67	0.87782	Myosin tail 2 (1);	0.072869	0.56097	D	0.000029	T	0.76428	0.3986	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.83253	-0.0052	10	0.87932	D	0	.	15.1414	0.72612	1.0:0.0:0.0:0.0	.	824	O00160	MYO1F_HUMAN	H	869;824	ENSP00000344871:L824H	ENSP00000304899:L869H	L	-	2	0	MYO1F	8498225	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	8.885000	0.92439	2.168000	0.68352	0.529000	0.55759	CTC		0.557	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			T	8592225	A	T	8592225	3	4	201	1	0	0	0	0	1	0	0	0	10075	304	11	5	853	5	MYO1F	19	8592225	Missense_Mutation	SNP	A	TCGA-B0-5119-01A-02D-1421-08	7371796	8592225	50536758	75	12338											
OR7G1	125962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9225524	9225524	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:9225524C>A	ENST00000541538.1	-	1	915	c.916G>T	c.(916-918)Ggt>Tgt	p.G306C	OR7G1_ENST00000293614.1_Splice_Site_p.G306C	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G306C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AACAGCCTACCAATAAGTTTC	0.418																																																1	Substitution - Missense(1)	kidney(1)											106	96	99					19																	9225524		2203	4300	6503	SO:0001583	missense	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.916G>T	19.37:g.9225524C>A	ENSP00000444134:p.Gly306Cys		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	c	5.638	0.302300	0.10678	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.36340	1.26;1.26	2.67	-5.34	0.02705	.	1.480890	0.05039	U	0.475970	T	0.29556	0.0737	L	0.51853	1.615	0.09310	N	1	B	0.15141	0.012	B	0.15870	0.014	T	0.32561	-0.9902	10	0.59425	D	0.04	.	6.2189	0.20671	0.1386:0.5947:0.0:0.2667	.	306	Q8NGA0	OR7G1_HUMAN	C	306	ENSP00000293614:G306C;ENSP00000444134:G306C	ENSP00000293614:G306C	G	-	1	0	OR7G1	9086524	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-4.348000	0.00248	-1.718000	0.01383	0.501000	0.49751	GGC;GGT		0.418	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			A	9225524	C	A	9225524	3	1	201	1	0	0	0	0	1	0	0	0	11224	608	21	4	93	4	OR7G1	19	9225524	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	633299	9225524	49903459	76	12339											
OR7G1	125962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9226001	9226001	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:9226001G>C	ENST00000541538.1	-	1	438	c.439C>G	c.(439-441)Ctc>Gtc	p.L147V	OR7G1_ENST00000293614.1_Missense_Mutation_p.L147V	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L147V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AACATGGAGAGAAGAATCAGC	0.483																																																1	Substitution - Missense(1)	kidney(1)											85	88	87					19																	9226001		2203	4300	6503	SO:0001583	missense	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.439C>G	19.37:g.9226001G>C	ENSP00000444134:p.Leu147Val		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	g	1.684	-0.505749	0.04261	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.37584	1.19;1.19	3.78	-7.55	0.01327	GPCR, rhodopsin-like superfamily (1);	1.609780	0.04400	U	0.363984	T	0.14313	0.0346	N	0.05487	-0.04	0.09310	N	1	B	0.20052	0.041	B	0.29267	0.1	T	0.24048	-1.0171	10	0.02654	T	1	.	5.2998	0.15772	0.1416:0.4954:0.1926:0.1704	.	147	Q8NGA0	OR7G1_HUMAN	V	147	ENSP00000293614:L147V;ENSP00000444134:L147V	ENSP00000293614:L147V	L	-	1	0	OR7G1	9087001	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.821000	0.04452	-2.362000	0.00609	-0.412000	0.06146	CTC		0.483	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			C	9226001	G	C	9226001	3	2	201	1	0	0	0	0	1	0	0	0	11224	942	33	4	570	4	OR7G1	19	9226001	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08	477	9226001	49902982	77	12340											
PAK4	10298	broad.mit.edu;ucsc.edu	37	19	39664492	39664492	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:39664492C>A	ENST00000593690.1	+	6	1367	c.940C>A	c.(940-942)Cca>Aca	p.P314T	PAK4_ENST00000435673.2_Missense_Mutation_p.P314T|PAK4_ENST00000321944.4_Missense_Mutation_p.P224T|PAK4_ENST00000360442.3_Missense_Mutation_p.P314T|PAK4_ENST00000358301.3_Missense_Mutation_p.P314T|PAK4_ENST00000599386.1_Missense_Mutation_p.P161T|PAK4_ENST00000599470.1_Missense_Mutation_p.P161T	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	314	GEF-interaction domain (GID).|Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P314T(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GGTGGTGGACCCAGGCGACCC	0.677																																																1	Substitution - Missense(1)	kidney(1)											25	23	24					19																	39664492		2202	4300	6502	SO:0001583	missense	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.940C>A	19.37:g.39664492C>A	ENSP00000469413:p.Pro314Thr		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	c	3.828	-0.036407	0.07497	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	T;T;T	0.72725	-0.68;-0.68;-0.68	4.38	3.34	0.38264	Protein kinase-like domain (1);	0.125962	0.53938	D	0.000043	T	0.66356	0.2781	M	0.72894	2.215	0.58432	D	0.999991	B;B;P	0.35600	0.433;0.156;0.511	B;B;B	0.38378	0.219;0.128;0.272	T	0.60010	-0.7346	10	0.14656	T	0.56	.	9.8952	0.41314	0.0:0.8987:0.0:0.1013	.	224;161;314	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	T	314;161;118;70;314;314	ENSP00000351049:P314T;ENSP00000392753:P314T;ENSP00000353625:P314T	ENSP00000326864:P161T	P	+	1	0	PAK4	44356332	1.000000	0.71417	0.845000	0.33349	0.148000	0.21650	7.513000	0.81739	1.062000	0.40625	0.555000	0.69702	CCA		0.677	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			A	39664492	C	A	39664492	3	1	201	1	0	0	0	0	1	0	0	0	11405	623	22	4	950	4	PAK4	19	39664492	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	30438491	39664492	19464491	78	12341											
PRKD2	25865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47177845	47177845	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:47177845C>G	ENST00000291281.4	-	18	2797	c.2572G>C	c.(2572-2574)Ggt>Cgt	p.G858R	PRKD2_ENST00000433867.1_Missense_Mutation_p.G858R|PRKD2_ENST00000601806.1_Missense_Mutation_p.G701R|PRKD2_ENST00000595515.1_Missense_Mutation_p.G868R|PRKD2_ENST00000600194.1_Missense_Mutation_p.G701R|DACT3-AS1_ENST00000525352.1_RNA|DACT3-AS1_ENST00000525008.1_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	858					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.G858R(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CAGGCCCCACCGAGATCCCTG	0.642																																																1	Substitution - Missense(1)	kidney(1)											51	38	43					19																	47177845		2203	4300	6503	SO:0001583	missense	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2572G>C	19.37:g.47177845C>G	ENSP00000291281:p.Gly858Arg		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228994	0.22542	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.64260	-0.09;-0.09	4.1	-0.487	0.12060	Protein kinase-like domain (1);	0.323500	0.19933	U	0.102807	T	0.37128	0.0992	N	0.11427	0.14	0.09310	N	1	B;B;B	0.27316	0.003;0.175;0.023	B;B;B	0.28011	0.005;0.085;0.012	T	0.23476	-1.0187	10	0.44086	T	0.13	-4.4641	7.3589	0.26735	0.0:0.6202:0.0:0.3798	.	868;343;858	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	R	858	ENSP00000291281:G858R;ENSP00000393978:G858R	ENSP00000291281:G858R	G	-	1	0	PRKD2	51869685	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.064000	0.14437	-0.075000	0.12798	-0.794000	0.03295	GGT		0.642	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		G	47177845	C	G	47177845	3	3	201	1	0	0	0	0	1	0	0	0	12524	652	23	4	68	4	PRKD2	19	47177845	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	7513353	47177845	11951138	79	12342											
ZNF816A	125893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53453353	53453353	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:53453353G>A	ENST00000357666.4	-	5	1975	c.1675C>T	c.(1675-1677)Cat>Tat	p.H559Y	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H559Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H559Y(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTCCAGTATGAACTCTCGTA	0.393																																																1	Substitution - Missense(1)	kidney(1)											74	76	75					19																	53453353		2203	4299	6502	SO:0001583	missense	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1675C>T	19.37:g.53453353G>A	ENSP00000350295:p.His559Tyr		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	11.83	1.754206	0.31046	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.67523	-0.27;-0.27	1.75	0.534	0.17127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83394	0.5245	H	0.94734	3.575	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.82404	-0.0474	9	0.87932	D	0	.	8.5915	0.33690	0.0:0.2416:0.7584:0.0	.	559	Q0VGE8	ZN816_HUMAN	Y	559	ENSP00000350295:H559Y;ENSP00000403266:H559Y	ENSP00000350295:H559Y	H	-	1	0	ZNF816	58145165	0.939000	0.31865	0.138000	0.22173	0.361000	0.29550	3.396000	0.52565	0.044000	0.15775	0.194000	0.17425	CAT		0.393	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		A	53453353	G	A	53453353	3	1	201	1	0	0	0	0	1	0	0	0	18182	1290	45	2	284	2	ZNF816A	19	53453353	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08	6275508	53453353	5675630	80	12343											
PTPRH	5794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55693237	55693237	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:55693237C>T	ENST00000376350.3	-	20	3255	c.3233G>A	c.(3232-3234)cGg>cAg	p.R1078Q	SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000590851.1_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.R900Q|SYT5_ENST00000354308.3_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1078	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1078Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTGGAGGAACCGCAGGATGCA	0.627																																																1	Substitution - Missense(1)	kidney(1)											126	117	120					19																	55693237		2203	4300	6503	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3233G>A	19.37:g.55693237C>T	ENSP00000365528:p.Arg1078Gln		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930427	0.52866	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.11169	2.8;2.8	4.41	-0.422	0.12329	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.562481	0.13485	N	0.384369	T	0.04407	0.0121	N	0.11427	0.14	0.09310	N	1	P;P	0.50066	0.931;0.854	B;B	0.38921	0.285;0.138	T	0.44982	-0.9292	10	0.19590	T	0.45	.	8.6923	0.34273	0.0:0.4752:0.0:0.5248	.	900;1078	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Q	1078;900	ENSP00000365528:R1078Q;ENSP00000263434:R900Q	ENSP00000263434:R900Q	R	-	2	0	PTPRH	60385049	0.007000	0.16637	0.008000	0.14137	0.934000	0.57294	0.670000	0.25157	-0.043000	0.13513	0.650000	0.86243	CGG		0.627	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			T	55693237	C	T	55693237	3	4	201	1	0	0	0	0	1	0	0	0	12809	652	23	1	118	1	PTPRH	19	55693237	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	2239884	55693237	3435746	81	12344											
ZNF805	390980	broad.mit.edu;ucsc.edu	37	19	57765250	57765250	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:57765250A>T	ENST00000414468.2	+	4	1063	c.1063A>T	c.(1063-1065)Aga>Tga	p.R355*	ZNF805_ENST00000354309.4_Nonsense_Mutation_p.R222*|ZNF805_ENST00000535550.1_Nonsense_Mutation_p.R222*	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R355*(1)		breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CTTCAAACACAGATCATACCT	0.512																																																1	Substitution - Nonsense(1)	kidney(1)											75	73	74					19																	57765250		692	1591	2283	SO:0001587	stop_gained	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1063A>T	19.37:g.57765250A>T	ENSP00000412999:p.Arg355*		B4DNM5	Nonsense_Mutation	SNP	ENST00000414468.2	37	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	A	37	6.103573	0.97286	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	.	.	.	3.76	2.73	0.32206	.	0.644172	0.13827	N	0.360006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.206	0.37289	0.6478:0.3522:0.0:0.0	.	.	.	.	X	222;355;222	.	ENSP00000365414:R222X	R	+	1	2	ZNF805	62457062	0.000000	0.05858	0.482000	0.27366	0.963000	0.63663	1.261000	0.32980	0.783000	0.33636	0.460000	0.39030	AGA		0.512	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		T	57765250	A	T	57765250	4	4	201	1	0	0	0	0	0	1	0	0	18177	180	7	5	1077	5	ZNF805	19	57765250	Nonsense_Mutation	SNP	A	TCGA-B0-5119-01A-02D-1421-08	2072013	57765250	1363733	82	12345											
PCK1	5105	hgsc.bcm.edu;ucsc.edu	37	20	56140707	56140709	+	In_Frame_Del	DEL	CAA	CAA	-	rs570650529		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	CAA	CAA	CAA	-	CAA	CAA	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr20:56140707_56140709delCAA	ENST00000319441.4	+	10	1880_1882	c.1716_1718delCAA	c.(1714-1719)atcaac>atc	p.N573del	PCK1_ENST00000543666.1_In_Frame_Del_p.N256del	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	573					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGGGGCACATCAACATGATGGAG	0.532																																																0																																										SO:0001651	inframe_deletion	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1716_1718delCAA	20.37:g.56140707_56140709delCAA	ENSP00000319814:p.Asn573del		A8K437|B4DT64|Q8TCA3|Q9UJD2	In_Frame_Del	DEL	ENST00000319441.4	37	CCDS13460.1																																																																																				0.532	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			-	56140709	CAA	-	56140707	7	5	201	1	0	1	0	1	0	0	0	0	11583	816	29	0	1750	0	PCK1	20	56140707	In_Frame_Del	DEL	CAA	TCGA-B0-5119-01A-02D-1421-08		56140707	6884813	83	12346											
PI4KA	5297	broad.mit.edu;ucsc.edu	37	22	21152931	21152931	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr22:21152931A>C	ENST00000572273.1	-	17	2105	c.1875T>G	c.(1873-1875)agT>agG	p.S625R	PI4KA_ENST00000255882.6_Missense_Mutation_p.S683R			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	625					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.S625R(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGGCCTTCACACTGATCTGCT	0.488																																					GBM(136;1332 1831 3115 23601 50806)											2	Substitution - Missense(2)	kidney(2)											210	181	191					22																	21152931		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1875T>G	22.37:g.21152931A>C	ENSP00000458238:p.Ser625Arg		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	A	22.2	4.255852	0.80135	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.75	-2.53	0.06326	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.22421	0.69	0.80722	D	1	B;D	0.54601	0.39;0.967	B;P	0.56434	0.281;0.798	T	0.45745	-0.9240	9	0.52906	T	0.07	-14.6397	11.7465	0.51823	0.6749:0.0:0.3251:0.0	.	683;625	D3DX33;P42356	.;PI4KA_HUMAN	R	625	.	ENSP00000255882:S625R	S	-	3	2	PI4KA	19482931	0.995000	0.38212	0.996000	0.52242	0.997000	0.91878	0.571000	0.23669	-0.330000	0.08514	0.402000	0.26972	AGT		0.488	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		C	21152931	A	C	21152931	3	2	201	1	0	0	0	0	1	0	0	0	11875	156	6	5	4415	5	PI4KA	22	21152931	Missense_Mutation	SNP	A	TCGA-B0-5119-01A-02D-1421-08		21152931	30151635	84	12347											
PIWIL3	440822	hgsc.bcm.edu;ucsc.edu	37	22	25131751	25131754	+	Frame_Shift_Del	DEL	TGTG	TGTG	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	TGTG	TGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr22:25131751_25131754delTGTG	ENST00000332271.5	-	13	1971_1974	c.1555_1558delCACA	c.(1555-1560)cacagafs	p.HR519fs	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Frame_Shift_Del_p.HR410fs|PIWIL3_ENST00000527701.1_Frame_Shift_Del_p.HR410fs	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	519					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATGGCTTCTCTGTGACTGCTCCTG	0.431																																																0																																										SO:0001589	frameshift_variant	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1555_1558delCACA	22.37:g.25131751_25131754delTGTG	ENSP00000330031:p.His519fs			Frame_Shift_Del	DEL	ENST00000332271.5	37	CCDS33623.1																																																																																				0.431	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		-	25131754	TGTG	-	25131751	7	5	201	1	0	1	0	1	0	0	0	0	11961	1588	55	0	1126	0	PIWIL3	22	25131751	Frame_Shift_Del	DEL	TGTG	TCGA-B0-5119-01A-02D-1421-08	3978820	25131751	26172815	85	12348											
ADSL	158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40742638	40742638	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr22:40742638A>C	ENST00000216194.7	+	1	132	c.76A>C	c.(76-78)Atg>Ctg	p.M26L	ADSL_ENST00000342312.6_Missense_Mutation_p.M26L|ADSL_ENST00000454266.2_Missense_Mutation_p.M26L	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	26			M -> L (in ADSL deficiency; severe).		'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.M26L(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CAGCCCGGAGATGTGCTTCGT	0.652																																					Colon(4;65 130 1097 1516)											2	Substitution - Missense(2)	kidney(2)	GRCh37	CM990116	ADSL	M							37	32	34					22																	40742638		2203	4300	6503	SO:0001583	missense	158			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.76A>C	22.37:g.40742638A>C	ENSP00000216194:p.Met26Leu		B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571197	0.86542	.	.	ENSG00000239900	ENST00000216194;ENST00000544206;ENST00000425605;ENST00000454266;ENST00000342312	D;D;D	0.95588	-3.48;-3.48;-3.75	4.8	4.8	0.61643	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93213	0.7838	L	0.48935	1.535	0.80722	D	1	P;P;P;P	0.40066	0.701;0.639;0.531;0.531	B;B;B;B	0.39299	0.285;0.281;0.296;0.296	D	0.93963	0.7242	10	0.72032	D	0.01	-29.2813	14.5069	0.67758	1.0:0.0:0.0:0.0	.	26;26;26;26	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	L	26	ENSP00000216194:M26L;ENSP00000390107:M26L;ENSP00000341429:M26L	ENSP00000216194:M26L	M	+	1	0	ADSL	39072584	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.908000	0.87438	2.148000	0.66965	0.524000	0.50904	ATG		0.652	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		C	40742638	A	C	40742638	3	2	201	1	0	0	0	0	1	0	0	0	346	333	12	5	78	5	ADSL	22	40742638	Missense_Mutation	SNP	A	TCGA-B0-5119-01A-02D-1421-08	15610887	40742638	10561928	86	12349											
CELSR1	9620	broad.mit.edu;hgsc.bcm.edu	37	22	46807519	46807519	+	Silent	SNP	G	G	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr22:46807519G>T	ENST00000262738.3	-	6	4748	c.4749C>A	c.(4747-4749)ggC>ggA	p.G1583G		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1583	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.G1583G(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGTCTGAGTGCCCTGGGCAG	0.632																																																1	Substitution - coding silent(1)	kidney(1)											74	63	67					22																	46807519		2203	4300	6503	SO:0001819	synonymous_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4749C>A	22.37:g.46807519G>T			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																				0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46807519	G	T	46807519	2	4	201	1	0	0	0	0	0	0	0	1	3223	1306	46	4		4	CELSR1	22	46807519	Silent	SNP	G	TCGA-B0-5119-01A-02D-1421-08	6064881	46807519	4497047	87	12350											
SFRS17A	8227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1712876	1712876	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chrX:1712876T>C	ENST00000313871.3	+	2	717	c.521T>C	c.(520-522)cTg>cCg	p.L174P	AKAP17A_ENST00000381261.3_Missense_Mutation_p.L174P	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	174	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.L174P(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GAGGACGTCCTGGTCAAGGTG	0.647																																																1	Substitution - Missense(1)	kidney(1)											128	123	125					X																	1712876		2203	4296	6499	SO:0001583	missense	8227			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.521T>C	X.37:g.1712876T>C	ENSP00000324827:p.Leu174Pro		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	t	9.172	1.021320	0.19433	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.67171	-0.25;-0.25	2.34	1.07	0.20283	Nucleotide-binding, alpha-beta plait (1);	0.095389	0.44097	U	0.000497	T	0.76154	0.3948	.	.	.	0.44880	D	0.997896	D;B	0.69078	0.997;0.032	D;B	0.66497	0.944;0.053	T	0.73534	-0.3952	9	0.87932	D	0	-15.9312	7.1021	0.25343	0.0:0.122:0.0:0.878	.	174;174	Q02040-3;Q02040	.;AK17A_HUMAN	P	174	ENSP00000324827:L174P;ENSP00000370660:L174P	ENSP00000324827:L174P	L	+	2	0	AKAP17A	1672876	0.998000	0.40836	0.003000	0.11579	0.491000	0.33493	5.773000	0.68898	-0.029000	0.13827	0.084000	0.15446	CTG		0.647	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		C	1712876	T	C	1712876	3	2	201	1	0	0	0	0	1	0	0	0	14179	1580	55	3	523	3	SFRS17A	23	1712876	Missense_Mutation	SNP	T	TCGA-B0-5119-01A-02D-1421-08		1712876	153557684	88	12351											
ATP1B4	23439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	119504657	119504657	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chrX:119504657G>A	ENST00000218008.3	+	3	473	c.416G>A	c.(415-417)aGt>aAt	p.S139N	ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Missense_Mutation_p.S135N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	139					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.S135N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CTGACCATCAGTCCCTATATA	0.493																																																1	Substitution - Missense(1)	kidney(1)											370	306	328					X																	119504657		2203	4300	6503	SO:0001583	missense	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.416G>A	X.37:g.119504657G>A	ENSP00000218008:p.Ser139Asn		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199262	0.38806	.	.	ENSG00000101892	ENST00000218008;ENST00000361319	T;T	0.33865	1.39;1.39	5.39	4.51	0.55191	.	0.035907	0.85682	D	0.000000	T	0.49695	0.1572	L	0.44542	1.39	0.80722	D	1	B;D;D	0.89917	0.169;1.0;1.0	B;D;D	0.91635	0.124;0.999;0.998	T	0.34551	-0.9824	10	0.24483	T	0.36	-3.7365	13.7975	0.63180	0.0:0.1508:0.8492:0.0	.	104;139;135	B7ZKV9;Q9UN42;Q9UN42-2	.;AT1B4_HUMAN;.	N	139;135	ENSP00000218008:S139N;ENSP00000355346:S135N	ENSP00000218008:S139N	S	+	2	0	ATP1B4	119388685	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.859000	0.48364	1.010000	0.39314	0.422000	0.28245	AGT		0.493	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		A	119504657	G	A	119504657	3	1	201	1	0	0	0	0	1	0	0	0	1135	1029	36	2	426	2	ATP1B4	23	119504657	Missense_Mutation	SNP	G	TCGA-B0-5119-01A-02D-1421-08	117791781	119504657	35765903	89	12352											
IRAK1	3654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153278782	153278782	+	Missense_Mutation	SNP	C	C	T	rs140583367		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chrX:153278782C>T	ENST00000369980.3	-	12	1809	c.1642G>A	c.(1642-1644)Gtg>Atg	p.V548M	IRAK1_ENST00000393687.2_Missense_Mutation_p.V518M|IRAK1_ENST00000369974.2_Missense_Mutation_p.V469M|IRAK1_ENST00000429936.2_Missense_Mutation_p.V544M|IRAK1_ENST00000393682.1_Missense_Mutation_p.V529M|IRAK1_ENST00000477274.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	548					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.V548M(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTGGACACGTAGGAGTTC	0.682																																																2	Substitution - Missense(2)	kidney(2)						C	MET/VAL,MET/VAL,MET/VAL	1,3805		0,1,1628,548	18	21	20		1552,1405,1642	-4.7	0	X	dbSNP_134	20	0,6672		0,0,2419,1834	no	missense,missense,missense	IRAK1	NM_001025242.1,NM_001025243.1,NM_001569.3	21,21,21	0,1,4047,2382	TT,TC,CC,C		0.0,0.0263,0.0095	benign,benign,benign	518/683,469/634,548/713	153278782	1,10477	2177	4253	6430	SO:0001583	missense	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1642G>A	X.37:g.153278782C>T	ENSP00000358997:p.Val548Met		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.775|3.775	-0.046920|-0.046920	0.07407|0.07407	2.63E-4|2.63E-4	0.0|0.0	ENSG00000184216|ENSG00000184216	ENST00000444254;ENST00000443220|ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	.|T;T;T;T;T	.|0.72725	.|-0.65;-0.67;-0.67;-0.65;-0.68	5.62|5.62	-4.65|-4.65	0.03339|0.03339	.|.	.|0.948232	.|0.08763	.|N	.|0.897516	T|T	0.44623|0.44623	0.1302|0.1302	N|N	0.11201|0.11201	0.11|0.11	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.35656	.|0.138;0.38;0.514	.|B;B;B	.|0.25506	.|0.021;0.027;0.061	T|T	0.14144|0.14144	-1.0483|-1.0483	5|10	.|0.22706	.|T	.|0.39	-3.4653|-3.4653	14.5481|14.5481	0.68047|0.68047	0.0:0.1619:0.0:0.8381|0.0:0.1619:0.0:0.8381	.|.	.|469;548;518	.|P51617-4;P51617;P51617-2	.|.;IRAK1_HUMAN;.	H|M	103;296|548;469;529;518;544	.|ENSP00000358997:V548M;ENSP00000358991:V469M;ENSP00000377287:V529M;ENSP00000377291:V518M;ENSP00000392662:V544M	.|ENSP00000358991:V469M	R|V	-|-	2|1	0|0	IRAK1|IRAK1	152931976|152931976	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.069000|0.069000	0.16628|0.16628	-1.138000|-1.138000	0.03216|0.03216	-1.103000|-1.103000	0.03019|0.03019	-0.192000|-0.192000	0.12808|0.12808	CGT|GTG		0.682	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			T	153278782	C	T	153278782	3	4	201	1	0	0	0	0	1	0	0	0	7823	536	19	1	508	1	IRAK1	23	153278782	Missense_Mutation	SNP	C	TCGA-B0-5119-01A-02D-1421-08	33774125	153278782	1991778	90	12353											
ZCCHC17	51538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	31782970	31782970	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:31782970A>G	ENST00000373714.1	+	2	286	c.25A>G	c.(25-27)Atg>Gtg	p.M9V	ZCCHC17_ENST00000546109.1_5'UTR|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.M9V|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000422613.2_Intron	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	9						cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M9V(1)		breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GCCTGAGACCATGGAAAACTT	0.368																																																1	Substitution - Missense(1)	kidney(1)											162	153	156					1																	31782970		2203	4300	6503	SO:0001583	missense	51538			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.25A>G	1.37:g.31782970A>G	ENSP00000362819:p.Met9Val		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	CCDS341.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.646981	0.29246	.	.	ENSG00000121766	ENST00000344147;ENST00000373714	.	.	.	5.65	3.3	0.37823	.	0.143672	0.64402	N	0.000007	T	0.31857	0.0810	N	0.16478	0.41	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14448	-1.0472	9	0.59425	D	0.04	.	5.2733	0.15636	0.7138:0.1944:0.0918:0.0	.	9	Q9NP64	NO40_HUMAN	V	9	.	ENSP00000343557:M9V	M	+	1	0	ZCCHC17	31555557	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.226000	0.51254	1.151000	0.42436	0.533000	0.62120	ATG		0.368	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		G	31782970	A	G	31782970	3	3	202	1	0	0	0	0	1	0	0	0	17590	217	8	3	27	3	ZCCHC17	1	31782970	Missense_Mutation	SNP	A	TCGA-B0-5120-01A-01D-1421-08		31782970	217467651	1	12354											
SNX27	81609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151611585	151611585	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:151611585A>G	ENST00000458013.2	+	2	653	c.533A>G	c.(532-534)gAg>gGg	p.E178G	SNX27_ENST00000368838.1_Missense_Mutation_p.E85G|SNX27_ENST00000368843.3_Missense_Mutation_p.E178G			Q96L92	SNX27_HUMAN	sorting nexin family member 27	178	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.E178G(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGAATGGTGAGAAGTTTGTG	0.428																																					Colon(46;291 966 40145 41237 41888)											1	Substitution - Missense(1)	kidney(1)											68	64	65					1																	151611585		2203	4300	6503	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.533A>G	1.37:g.151611585A>G	ENSP00000400333:p.Glu178Gly		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37		.	.	.	.	.	.	.	.	.	.	A	20.6	4.022253	0.75275	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.28895	1.59;1.59;1.59	4.66	4.66	0.58398	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	N	0.20328	0.56	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.72338	0.948;0.977	T	0.05566	-1.0877	10	0.28530	T	0.3	.	13.0435	0.58913	1.0:0.0:0.0:0.0	.	178;178	Q96L92;Q96L92-3	SNX27_HUMAN;.	G	178;178;85	ENSP00000400333:E178G;ENSP00000357836:E178G;ENSP00000357831:E85G	ENSP00000357831:E85G	E	+	2	0	SNX27	149878209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.735000	0.91549	1.954000	0.56735	0.482000	0.46254	GAG		0.428	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		G	151611585	A	G	151611585	3	3	202	1	0	0	0	0	1	0	0	0	14903	304	11	3	539	3	SNX27	1	151611585	Missense_Mutation	SNP	A	TCGA-B0-5120-01A-01D-1421-08	119828615	151611585	97639036	2	12355											
LAMC1	3915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183086460	183086460	+	Missense_Mutation	SNP	G	G	T	rs557108773	byFrequency	TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:183086460G>T	ENST00000258341.4	+	9	1827	c.1570G>T	c.(1570-1572)Gat>Tat	p.D524Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	524	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.D524Y(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGCAGATGAGGATGGGTGGCG	0.473																																																1	Substitution - Missense(1)	kidney(1)											128	111	116					1																	183086460		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1570G>T	1.37:g.183086460G>T	ENSP00000258341:p.Asp524Tyr		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955428	0.73902	.	.	ENSG00000135862	ENST00000258341	T	0.32272	1.46	5.04	5.04	0.67666	Laminin B type IV (1);	0.100522	0.64402	D	0.000004	T	0.36496	0.0969	L	0.52905	1.665	0.80722	D	1	P	0.39624	0.681	B	0.40782	0.34	T	0.28170	-1.0052	10	0.59425	D	0.04	.	18.3933	0.90490	0.0:0.0:1.0:0.0	.	524	P11047	LAMC1_HUMAN	Y	524	ENSP00000258341:D524Y	ENSP00000258341:D524Y	D	+	1	0	LAMC1	181353083	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.013000	0.93629	2.338000	0.79540	0.591000	0.81541	GAT		0.473	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		T	183086460	G	T	183086460	3	4	202	1	0	0	0	0	1	0	0	0	8616	1174	41	4	1604	4	LAMC1	1	183086460	Missense_Mutation	SNP	G	TCGA-B0-5120-01A-01D-1421-08	31474875	183086460	66164161	3	12356											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201047117	201047117	+	Silent	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:201047117C>A	ENST00000362061.3	-	11	1735	c.1509G>T	c.(1507-1509)gtG>gtT	p.V503V	CACNA1S_ENST00000367338.3_Silent_p.V503V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	503					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.V503V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCTACACACCACGAAGCAGT	0.582																																																1	Substitution - coding silent(1)	kidney(1)											119	95	103					1																	201047117		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1509G>T	1.37:g.201047117C>A			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201047117	C	A	201047117	2	1	202	1	0	0	0	0	0	0	0	1	2549	581	21	4		4	CACNA1S	1	201047117	Silent	SNP	C	TCGA-B0-5120-01A-01D-1421-08	17960657	201047117	48203504	4	12357											
MIA3	375056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222826645	222826645	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:222826645A>T	ENST00000344922.5	+	15	4310	c.4285A>T	c.(4285-4287)Aat>Tat	p.N1429Y	MIA3_ENST00000340535.7_Missense_Mutation_p.N307Y|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.N1429Y	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1429					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.N1429Y(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TAAAGGTGGAAATGATTCAGA	0.413																																																1	Substitution - Missense(1)	kidney(1)											135	127	130					1																	222826645		1876	4109	5985	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4285A>T	1.37:g.222826645A>T	ENSP00000340900:p.Asn1429Tyr		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.248|9.248	1.039993|1.039993	0.19669|0.19669	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	.|T;T;T	.|0.71817	.|-0.6;-0.6;1.19	5.66|5.66	1.88|1.88	0.25563|0.25563	.|.	.|.	.|.	.|.	.|.	T|T	0.60637|0.60637	0.2284|0.2284	L|L	0.59436|0.59436	1.845|1.845	0.21841|0.21841	N|N	0.999517|0.999517	.|B;B;B	.|0.27229	.|0.002;0.007;0.172	.|B;B;B	.|0.21360	.|0.014;0.005;0.034	T|T	0.53975|0.53975	-0.8362|-0.8362	5|9	.|0.56958	.|D	.|0.05	.|.	3.5122|3.5122	0.07712|0.07712	0.5333:0.2746:0.0723:0.1198|0.5333:0.2746:0.0723:0.1198	.|.	.|1370;307;1429	.|Q5JRA6-2;Q5JRA6-4;Q5JRA6	.|.;.;MIA3_HUMAN	I|Y	952|1429;1429;1370;307;307	.|ENSP00000340900:N1429Y;ENSP00000340587:N1429Y;ENSP00000345866:N307Y	.|ENSP00000284471:N307Y	K|N	+|+	2|1	0|0	MIA3|MIA3	220893268|220893268	0.691000|0.691000	0.27709|0.27709	0.204000|0.204000	0.23530|0.23530	0.390000|0.390000	0.30446|0.30446	1.261000|1.261000	0.32980|0.32980	0.055000|0.055000	0.16094|0.16094	0.455000|0.455000	0.32223|0.32223	AAA|AAT		0.413	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		T	222826645	A	T	222826645	3	4	202	1	0	0	0	0	1	0	0	0	9567	14	1	5	4343	5	MIA3	1	222826645	Missense_Mutation	SNP	A	TCGA-B0-5120-01A-01D-1421-08	21779528	222826645	26423976	5	12358											
DISP1	84976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223178702	223178702	+	Silent	SNP	T	T	C			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:223178702T>C	ENST00000284476.6	+	8	4127	c.3963T>C	c.(3961-3963)gcT>gcC	p.A1321A		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1321					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A1321A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CACACCAAGCTGTCGAGGGCT	0.572																																																1	Substitution - coding silent(1)	kidney(1)											77	70	72					1																	223178702		2203	4300	6503	SO:0001819	synonymous_variant	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3963T>C	1.37:g.223178702T>C			Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	CCDS1536.1																																																																																				0.572	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		C	223178702	T	C	223178702	2	2	202	1	0	0	0	0	0	0	0	1	4541	1567	55	3		3	DISP1	1	223178702	Silent	SNP	T	TCGA-B0-5120-01A-01D-1421-08	352057	223178702	26071919	6	12359											
NUP133	55746	broad.mit.edu;hgsc.bcm.edu	37	1	229602504	229602504	+	Splice_Site	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:229602504C>A	ENST00000261396.3	-	16	2168		c.e16-1		NUP133_ENST00000537506.1_Splice_Site	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.?(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGGATACCTGAGAGAATA	0.423																																																1	Unknown(1)	kidney(1)											95	80	85					1																	229602504		2203	4300	6503	SO:0001630	splice_region_variant	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2077-1G>T	1.37:g.229602504C>A			B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Splice_Site	SNP	ENST00000261396.3	37	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395076	0.83011	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2848	0.90111	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP133	227669127	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.839000	0.62810	2.819000	0.97034	0.585000	0.79938	.		0.423	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	Intron	A	229602504	C	A	229602504	5	1	202	1	0	0	0	0	0	0	1	0	10756	695	24	4	1438	4	NUP133	1	229602504	Splice_Site	SNP	C	TCGA-B0-5120-01A-01D-1421-08	6423802	229602504	19648117	7	12360											
WDR35	57539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	20138069	20138069	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:20138069C>T	ENST00000345530.3	-	19	2168	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	WDR35_ENST00000281405.4_Missense_Mutation_p.D674N|WDR35_ENST00000416055.2_Missense_Mutation_p.D250N	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	685					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.D685N(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGATGCATCTTTAATTCCA	0.413																																																1	Substitution - Missense(1)	kidney(1)											131	131	131					2																	20138069		2203	4300	6503	SO:0001583	missense	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2053G>A	2.37:g.20138069C>T	ENSP00000314444:p.Asp685Asn		B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957559	0.73902	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.87491	-0.24;-0.23;-0.85;-2.26	5.57	4.68	0.58851	.	0.046875	0.85682	D	0.000000	D	0.91566	0.7336	M	0.68952	2.095	0.80722	D	1	D;D;B;P	0.61697	0.968;0.99;0.12;0.548	P;P;B;B	0.62014	0.836;0.897;0.153;0.379	D	0.91645	0.5330	10	0.49607	T	0.09	-19.0958	15.5905	0.76523	0.0:0.862:0.138:0.0	.	685;674;685;250	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	N	685;674;250;220	ENSP00000314444:D685N;ENSP00000281405:D674N;ENSP00000399159:D250N;ENSP00000404409:D220N	ENSP00000281405:D674N	D	-	1	0	WDR35	20001550	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.794000	0.85869	1.356000	0.45884	0.591000	0.81541	GAT		0.413	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		T	20138069	C	T	20138069	3	4	202	1	0	0	0	0	1	0	0	0	17294	913	32	2	1532	2	WDR35	2	20138069	Missense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08		20138069	223061304	8	12361											
DNMT3A	1788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	25467122	25467122	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:25467122T>G	ENST00000264709.3	-	15	2090	c.1753A>C	c.(1753-1755)Atg>Ctg	p.M585L	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.M585L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.M362L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.M396L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	585	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.M585L(1)|p.M396L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCGCACATGTAGCAGTTC	0.612			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	2	Substitution - Missense(2)	kidney(2)											27	31	30					2																	25467122		2203	4300	6503	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1753A>C	2.37:g.25467122T>G	ENSP00000264709:p.Met585Leu		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989681	0.53934	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.3	5.3	0.74995	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	N	0.25957	0.775	0.80722	D	1	B;P	0.36837	0.13;0.571	B;B	0.38296	0.141;0.27	T	0.57522	-0.7797	10	0.23302	T	0.38	-11.9617	14.0802	0.64917	0.0:0.0:0.0:1.0	.	585;396	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	L	396;585;585;362	ENSP00000370122:M396L;ENSP00000324375:M585L;ENSP00000264709:M585L;ENSP00000384237:M362L	ENSP00000264709:M585L	M	-	1	0	DNMT3A	25320626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.220000	0.72237	1.998000	0.58463	0.533000	0.62120	ATG		0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		G	25467122	T	G	25467122	3	3	202	1	0	0	0	0	1	0	0	0	4678	1464	51	5	1021	5	DNMT3A	2	25467122	Missense_Mutation	SNP	T	TCGA-B0-5120-01A-01D-1421-08	5329053	25467122	217732251	9	12362											
EMILIN1	11117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27305157	27305157	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:27305157A>T	ENST00000380320.4	+	4	1217	c.718A>T	c.(718-720)Atc>Ttc	p.I240F		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	240					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.I240F(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCAATGAGATCCAGCACCA	0.657																																																1	Substitution - Missense(1)	kidney(1)											30	34	32					2																	27305157		2203	4299	6502	SO:0001583	missense	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.718A>T	2.37:g.27305157A>T	ENSP00000369677:p.Ile240Phe		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.581500	0.65992	.	.	ENSG00000138080	ENST00000380320	T	0.18810	2.19	4.8	4.8	0.61643	.	0.121221	0.53938	D	0.000052	T	0.24160	0.0585	L	0.34521	1.04	0.45930	D	0.998768	D	0.69078	0.997	D	0.63597	0.916	T	0.17258	-1.0375	10	0.02654	T	1	-14.0018	8.6083	0.33786	0.8058:0.1942:0.0:0.0	.	240	Q9Y6C2	EMIL1_HUMAN	F	240	ENSP00000369677:I240F	ENSP00000369677:I240F	I	+	1	0	EMILIN1	27158661	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.200000	0.58433	2.028000	0.59812	0.379000	0.24179	ATC		0.657	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		T	27305157	A	T	27305157	3	4	202	1	0	0	0	0	1	0	0	0	5095	333	12	5	732	5	EMILIN1	2	27305157	Missense_Mutation	SNP	A	TCGA-B0-5120-01A-01D-1421-08	1838035	27305157	215894216	10	12363											
ALMS1	7840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73651718	73651718	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:73651718C>A	ENST00000264448.6	+	5	1036	c.925C>A	c.(925-927)Cag>Aag	p.Q309K	ALMS1_ENST00000409009.1_Missense_Mutation_p.Q267K|ALMS1_ENST00000377715.1_Missense_Mutation_p.Q309K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	309					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.Q309K(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGTTGGGTCTCAGTGCCCTTT	0.433																																																1	Substitution - Missense(1)	kidney(1)											83	78	80					2																	73651718		1885	4114	5999	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.925C>A	2.37:g.73651718C>A	ENSP00000264448:p.Gln309Lys		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	9.260	1.043064	0.19748	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14516	3.38;3.38;2.5	5.16	5.16	0.70880	.	0.473923	0.15889	N	0.239623	T	0.14614	0.0353	L	0.36672	1.1	0.09310	N	0.999992	P;P	0.42908	0.793;0.793	B;B	0.40940	0.344;0.344	T	0.10109	-1.0644	10	0.62326	D	0.03	.	14.8678	0.70430	0.0:1.0:0.0:0.0	.	267;309	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	K	267;309;309	ENSP00000386627:Q267K;ENSP00000264448:Q309K;ENSP00000366944:Q309K	ENSP00000264448:Q309K	Q	+	1	0	ALMS1	73505226	0.979000	0.34478	0.190000	0.23270	0.155000	0.21991	3.610000	0.54125	2.792000	0.96026	0.557000	0.71058	CAG		0.433	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73651718	C	A	73651718	3	1	202	1	0	0	0	0	1	0	0	0	535	827	29	4	943	4	ALMS1	2	73651718	Missense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08	46346561	73651718	169547655	11	12364											
SNRNP200	23020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	96962717	96962717	+	Missense_Mutation	SNP	C	C	T	rs144219123		TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:96962717C>T	ENST00000323853.5	-	12	1546	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R490H	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	490	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R490H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AAGGGCAGCACGGTAGAGCTT	0.507																																																1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG	0,4406		0,0,2203	75	69	71		1469	3.8	1	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNRNP200	NM_014014.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	490/2137	96962717	1,13005	2203	4300	6503	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1469G>A	2.37:g.96962717C>T	ENSP00000317123:p.Arg490His		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911163	0.52439	0.0	1.16E-4	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	T;T	0.15256	2.44;2.44	5.63	3.82	0.43975	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.261052	0.38720	N	0.001591	T	0.07999	0.0200	N	0.04275	-0.24	0.35194	D	0.77365	B	0.09022	0.002	B	0.01281	0.0	T	0.08764	-1.0706	10	0.59425	D	0.04	-4.8574	8.978	0.35948	0.0:0.7663:0.0:0.2337	.	490	O75643	U520_HUMAN	H	490;490;165	ENSP00000317123:R490H;ENSP00000326937:R490H	ENSP00000317123:R490H	R	-	2	0	SNRNP200	96326444	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.561000	0.53770	1.378000	0.46305	0.655000	0.94253	CGT		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		T	96962717	C	T	96962717	3	4	202	1	0	0	0	0	1	0	0	0	14858	536	19	1	5077	1	SNRNP200	2	96962717	Missense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08	23310999	96962717	146236656	12	12365											
PLA2R1	22925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160813103	160813103	+	Silent	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:160813103A>G	ENST00000283243.7	-	21	3146	c.2940T>C	c.(2938-2940)agT>agC	p.S980S	PLA2R1_ENST00000392771.1_Silent_p.S980S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	980	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.S980S(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTTCTTCCAACTGCTTGGGT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											139	123	128					2																	160813103		2203	4300	6503	SO:0001819	synonymous_variant	22925			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2940T>C	2.37:g.160813103A>G			B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	CCDS33309.1																																																																																				0.428	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			G	160813103	A	G	160813103	2	3	202	1	0	0	0	0	0	0	0	1	12012	40	2	3		3	PLA2R1	2	160813103	Silent	SNP	A	TCGA-B0-5120-01A-01D-1421-08	63850386	160813103	82386270	13	12366											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52696277	52696278	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr3:52696277_52696278insT	ENST00000296302.7	-	4	400_401	c.399_400insA	c.(397-402)gaatatfs	p.Y134fs	PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Y134fs			Q86U86	PB1_HUMAN	polybromo 1	134	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCGGCTTTATATTCAGGAGAAT	0.366			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.400dupA	3.37:g.52696279_52696279dupT	ENSP00000296302:p.Tyr134fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																					0.366	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52696278	-	T	52696277	7	5	202	1	0	1	1	0	0	0	0	0	11493	449	16	0	4608	0	PBRM1	3	52696277	Frame_Shift_Ins	INS	-	TCGA-B0-5120-01A-01D-1421-08		52696277	145326153	14	12367											
UGT2B4	7363	hgsc.bcm.edu	37	4	70359429	70359430	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr4:70359429_70359430insG	ENST00000305107.6	-	2	897_898	c.851_852insC	c.(850-852)cctfs	p.P284fs	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Frame_Shift_Ins_p.P148fs|UGT2B4_ENST00000512583.1_Frame_Shift_Ins_p.P284fs	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	284					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GGGGTTTGGCAGGTTTGCAGTG	0.401																																																0																																										SO:0001589	frameshift_variant	7363			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.852dupC	4.37:g.70359431_70359431dupG	ENSP00000305221:p.Pro284fs		A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Frame_Shift_Ins	INS	ENST00000305107.6	37	CCDS43234.1																																																																																				0.401	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		G	70359430	-	G	70359429	7	5	202	1	0	1	1	0	0	0	0	0	16966	175	7	0	754	0	UGT2B4	4	70359429	Frame_Shift_Ins	INS	-	TCGA-B0-5120-01A-01D-1421-08		70359429	120794847	15	12368											
PCDHB14	56122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140604554	140604554	+	Missense_Mutation	SNP	C	C	T	rs150245283	byFrequency	TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr5:140604554C>T	ENST00000239449.4	+	1	1477	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P340S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	493	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P493S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGCCGCCCCAGGACCG	0.657																																					Ovarian(141;50 1831 27899 33809 37648)											1	Substitution - Missense(1)	kidney(1)						C	SER/PRO	1,4405		0,1,2202	92	101	98		1477	-3.8	0	5	dbSNP_134	98	12,8588		0,12,4288	no	missense	PCDHB14	NM_018934.2	74	0,13,6490	TT,TC,CC		0.1395,0.0227,0.1	benign	493/799	140604554	13,12993	2203	4300	6503	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1477C>T	5.37:g.140604554C>T	ENSP00000239449:p.Pro493Ser		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	CCDS4256.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	-	0.128	-1.116897	0.01799	2.27E-4	0.001395	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.50548	0.74;0.74	4.15	-3.84	0.04256	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22437	0.0541	N	0.04018	-0.295	0.09310	N	1	B	0.16166	0.016	B	0.20955	0.032	T	0.21827	-1.0234	9	0.44086	T	0.13	.	8.3681	0.32399	0.0:0.3762:0.425:0.1989	.	493	Q9Y5E9	PCDBE_HUMAN	S	340;493	ENSP00000444518:P340S;ENSP00000239449:P493S	ENSP00000239449:P493S	P	+	1	0	PCDHB14	140584738	0.025000	0.19082	0.009000	0.14445	0.015000	0.08874	-0.614000	0.05604	-0.646000	0.05452	-1.234000	0.01563	CCC		0.657	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		T	140604554	C	T	140604554	3	4	202	1	0	0	0	0	1	0	0	0	11541	739	26	2	1479	2	PCDHB14	5	140604554	Missense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08		140604554	40310706	16	12369											
FLT4	2324	broad.mit.edu;hgsc.bcm.edu	37	5	180047687	180047687	+	Silent	SNP	G	G	A	rs139263798	byFrequency	TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr5:180047687G>A	ENST00000261937.6	-	16	2406	c.2328C>T	c.(2326-2328)atC>atT	p.I776I	FLT4_ENST00000502649.1_Silent_p.I776I|FLT4_ENST00000393347.3_Silent_p.I776I|FLT4_ENST00000424276.2_5'Flank	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	776					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I776I(2)|p.I586I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAGGATCACGATCTCCATGC	0.602													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18793	0.0		0.0	False		,,,				2504	0.0				Colon(97;1075 1466 27033 27547 35871)											3	Substitution - coding silent(3)	kidney(3)											128	129	129					5																	180047687		2202	4300	6502	SO:0001819	synonymous_variant	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2328C>T	5.37:g.180047687G>A			A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	CCDS4457.1																																																																																				0.602	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180047687	G	A	180047687	2	1	202	1	0	0	0	0	0	0	0	1	5946	1048	37	1		1	FLT4	5	180047687	Silent	SNP	G	TCGA-B0-5120-01A-01D-1421-08	39443133	180047687	867573	17	12370											
DDR1	780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	30866812	30866812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr6:30866812C>T	ENST00000324771.8	+	19	3147	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*	DDR1_ENST00000376567.2_Nonsense_Mutation_p.Q830*|DDR1_ENST00000376570.4_Nonsense_Mutation_p.Q830*|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376569.3_Nonsense_Mutation_p.Q830*|DDR1_ENST00000508312.1_Nonsense_Mutation_p.Q848*|DDR1_ENST00000376568.3_Nonsense_Mutation_p.Q867*|DDR1_ENST00000454612.2_Nonsense_Mutation_p.Q830*|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Nonsense_Mutation_p.Q873*|DDR1_ENST00000452441.1_Nonsense_Mutation_p.Q867*|DDR1_ENST00000376575.3_Nonsense_Mutation_p.Q873*|DDR1_ENST00000418800.2_Nonsense_Mutation_p.Q830*			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	867	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			QLTDEQVIENAGEFFRDQGRQ -> SAHRRAGHRERGGVLP GPGPA (in Ref. 6; CAA66871). {ECO:0000305}.	branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q873*(1)|p.Q829*(1)|p.Q867*(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCAGGGCCGGCAGGTCAGAGT	0.602																																																3	Substitution - Nonsense(3)	kidney(3)											50	51	50					6																	30866812		2203	4300	6503	SO:0001587	stop_gained	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2599C>T	6.37:g.30866812C>T	ENSP00000318217:p.Gln867*		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Nonsense_Mutation	SNP	ENST00000324771.8	37	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	43	10.277597	0.99373	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	.	.	.	4.92	4.92	0.64577	.	0.071624	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.636	0.76953	0.0:1.0:0.0:0.0	.	.	.	.	X	867;830;830;830;873;830;867;867;848;830;873	.	ENSP00000318217:Q867X	Q	+	1	0	DDR1	30974791	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.722000	0.84778	2.288000	0.76882	0.467000	0.42956	CAG		0.602	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		T	30866812	C	T	30866812	4	4	202	1	0	0	0	0	0	1	0	0	4338	711	25	2	2679	2	DDR1	6	30866812	Nonsense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08		30866812	140248255	18	12371											
KIAA0776	23376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	96997453	96997453	+	Splice_Site	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr6:96997453A>G	ENST00000369278.4	+	14	1752	c.1686A>G	c.(1684-1686)gcA>gcG	p.A562A		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	562					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.A562A(1)									AGTTTTTTGCAGGTATACTTA	0.323																																																1	Substitution - coding silent(1)	kidney(1)											54	56	55					6																	96997453		2203	4297	6500	SO:0001630	splice_region_variant	0			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1687+1A>G	6.37:g.96997453A>G			A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	CCDS5034.1																																																																																				0.323	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323	Silent	G	96997453	A	G	96997453	5	3	202	1	0	0	0	0	0	0	1	0	8195	202	7	3	1740	3	KIAA0776	6	96997453	Splice_Site	SNP	A	TCGA-B0-5120-01A-01D-1421-08	66130641	96997453	74117614	19	12372											
STXBP5	134957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	147685200	147685200	+	Silent	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr6:147685200C>T	ENST00000321680.6	+	25	2979	c.2979C>T	c.(2977-2979)gcC>gcT	p.A993A	STXBP5_ENST00000367481.3_Silent_p.A957A|STXBP5_ENST00000367480.3_Silent_p.A940A|STXBP5_ENST00000179882.6_Silent_p.A648A	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	993					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.A993A(1)|p.A957A(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGCGGATAGCCAGAACGTTCT	0.363																																																2	Substitution - coding silent(2)	kidney(2)											182	174	177					6																	147685200		2203	4300	6503	SO:0001819	synonymous_variant	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2979C>T	6.37:g.147685200C>T			Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	CCDS47499.1																																																																																				0.363	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			T	147685200	C	T	147685200	2	4	202	1	0	0	0	0	0	0	0	1	15361	581	21	2		2	STXBP5	6	147685200	Silent	SNP	C	TCGA-B0-5120-01A-01D-1421-08	50687747	147685200	23429867	20	12373											
SFRP4	6424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	37949276	37949276	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr7:37949276C>A	ENST00000436072.2	-	5	1175	c.798G>T	c.(796-798)atG>atT	p.M266I	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	266	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.M266I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTTCAAGAAGCATCATCCTGA	0.274																																																1	Substitution - Missense(1)	kidney(1)											123	117	119					7																	37949276		2201	4299	6500	SO:0001583	missense	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.798G>T	7.37:g.37949276C>A	ENSP00000410715:p.Met266Ile		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489972	0.84962	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.19394	2.15;2.15	6.03	6.03	0.97812	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.045952	0.85682	D	0.000000	T	0.34658	0.0905	L	0.47716	1.5	0.49687	D	0.999813	B	0.34241	0.444	P	0.46144	0.505	T	0.02371	-1.1169	10	0.62326	D	0.03	.	19.3311	0.94288	0.0:1.0:0.0:0.0	.	266	Q6FHJ7	SFRP4_HUMAN	I	266;263;132	ENSP00000410715:M266I;ENSP00000402262:M132I	ENSP00000410715:M266I	M	-	3	0	SFRP4	37915801	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.764000	0.68826	2.868000	0.98415	0.555000	0.69702	ATG		0.274	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		A	37949276	C	A	37949276	3	1	202	1	0	0	0	0	1	0	0	0	14169	710	25	4	250	4	SFRP4	7	37949276	Missense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08		37949276	121189387	21	12374											
ZNF680	340252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	63981785	63981785	+	Silent	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr7:63981785A>G	ENST00000309683.6	-	4	1498	c.1347T>C	c.(1345-1347)ctT>ctC	p.L449L	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L449L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TATGGTTAGTAAGGGTTGAAA	0.373																																																1	Substitution - coding silent(1)	kidney(1)											41	41	41					7																	63981785		2203	4298	6501	SO:0001819	synonymous_variant	340252			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1347T>C	7.37:g.63981785A>G			B3KVJ4|Q6ZNF3|Q8NC79	Silent	SNP	ENST00000309683.6	37	CCDS34644.1																																																																																				0.373	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		G	63981785	A	G	63981785	2	3	202	1	0	0	0	0	0	0	0	1	18092	349	13	3		3	ZNF680	7	63981785	Silent	SNP	A	TCGA-B0-5120-01A-01D-1421-08	26032509	63981785	95156878	22	12375											
LAMB4	22798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107763582	107763582	+	Missense_Mutation	SNP	G	G	A	rs555539125		TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr7:107763582G>A	ENST00000388781.3	-	2	111	c.28C>T	c.(28-30)Cac>Tac	p.H10Y	LAMB4_ENST00000414450.2_Missense_Mutation_p.H10Y|LAMB4_ENST00000205386.4_Missense_Mutation_p.H10Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.H10Y|LAMB4_ENST00000418464.1_Missense_Mutation_p.H10Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	10					cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.H10Y(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCACCAAGGTGCAAAAAAAGG	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		18291	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											103	105	104					7																	107763582		2203	4300	6503	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.28C>T	7.37:g.107763582G>A	ENSP00000373433:p.His10Tyr		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.344989	0.01266	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.30448	1.53;1.53;1.55;1.53;1.58	4.61	3.73	0.42828	.	0.321805	0.21372	N	0.075612	T	0.20251	0.0487	L	0.43152	1.355	0.23023	N	0.998415	B	0.21309	0.054	B	0.18263	0.021	T	0.31364	-0.9946	10	0.02654	T	1	.	8.8335	0.35098	0.1029:0.0:0.8971:0.0	.	10	A4D0S4	LAMB4_HUMAN	Y	10	ENSP00000205386:H10Y;ENSP00000373433:H10Y;ENSP00000373432:H10Y;ENSP00000402353:H10Y;ENSP00000402265:H10Y	ENSP00000205386:H10Y	H	-	1	0	LAMB4	107550818	0.790000	0.28787	0.975000	0.42487	0.499000	0.33736	0.628000	0.24522	1.290000	0.44636	0.563000	0.77884	CAC		0.308	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		A	107763582	G	A	107763582	3	1	202	1	0	0	0	0	1	0	0	0	8615	1319	46	2	5389	2	LAMB4	7	107763582	Missense_Mutation	SNP	G	TCGA-B0-5120-01A-01D-1421-08	43781797	107763582	51375081	23	12376											
SLC18A1	6570	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	20038369	20038369	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr8:20038369A>T	ENST00000276373.5	-	2	373	c.107T>A	c.(106-108)aTg>aAg	p.M36K	SLC18A1_ENST00000265808.7_Missense_Mutation_p.M36K|SLC18A1_ENST00000381608.4_Missense_Mutation_p.M36K|SLC18A1_ENST00000519026.1_Missense_Mutation_p.M36K|SLC18A1_ENST00000437980.1_Missense_Mutation_p.M36K|SLC18A1_ENST00000440926.1_Missense_Mutation_p.M36K	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	36					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.M36K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	AGTAAACAGCATGTTGTCCAG	0.572																																																1	Substitution - Missense(1)	kidney(1)											184	146	159					8																	20038369		2203	4300	6503	SO:0001583	missense	6570				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.107T>A	8.37:g.20038369A>T	ENSP00000276373:p.Met36Lys		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921384	0.73213	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.71	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.155728	0.64402	D	0.000001	D	0.89455	0.6720	M	0.90977	3.165	0.80722	D	1	P;P;P	0.50528	0.936;0.768;0.77	P;B;B	0.59889	0.865;0.401;0.193	D	0.89989	0.4106	10	0.87932	D	0	-23.1334	9.8615	0.41118	0.9195:0.0:0.0805:0.0	.	36;36;36	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	K	36	ENSP00000265808:M36K;ENSP00000276373:M36K;ENSP00000387549:M36K;ENSP00000413361:M36K;ENSP00000429664:M36K;ENSP00000371021:M36K;ENSP00000428999:M36K	ENSP00000265808:M36K	M	-	2	0	SLC18A1	20082649	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.179000	0.71974	1.004000	0.39156	0.533000	0.62120	ATG		0.572	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			T	20038369	A	T	20038369	3	4	202	1	0	0	0	0	1	0	0	0	14431	217	8	5	1530	5	SLC18A1	8	20038369	Missense_Mutation	SNP	A	TCGA-B0-5120-01A-01D-1421-08		20038369	126325653	24	12377											
RP1	6101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	55539331	55539331	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr8:55539331A>T	ENST00000220676.1	+	4	3037	c.2889A>T	c.(2887-2889)aaA>aaT	p.K963N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	963					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.K963N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTCTGGAAAAATAAGTAATT	0.328																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	kidney(1)											52	57	55					8																	55539331		2195	4294	6489	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2889A>T	8.37:g.55539331A>T	ENSP00000220676:p.Lys963Asn			Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.333192	0.24167	.	.	ENSG00000104237	ENST00000220676	T	0.55413	0.52	5.89	1.76	0.24704	.	0.299368	0.29165	N	0.012955	T	0.35364	0.0929	L	0.47716	1.5	0.09310	N	0.999999	P	0.37122	0.583	B	0.29942	0.109	T	0.20638	-1.0269	10	0.42905	T	0.14	.	4.7874	0.13232	0.6711:0.0:0.1915:0.1374	.	963	P56715	RP1_HUMAN	N	963	ENSP00000220676:K963N	ENSP00000220676:K963N	K	+	3	2	RP1	55701884	0.963000	0.33076	0.129000	0.21949	0.036000	0.12997	0.839000	0.27586	1.062000	0.40625	0.533000	0.62120	AAA		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		T	55539331	A	T	55539331	3	4	202	1	0	0	0	0	1	0	0	0	13538	11	1	5	2899	5	RP1	8	55539331	Missense_Mutation	SNP	A	TCGA-B0-5120-01A-01D-1421-08	35500962	55539331	90824691	25	12378											
DCAF13	25879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	104444966	104444966	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr8:104444966A>T	ENST00000297579.5	+	7	1515	c.1238A>T	c.(1237-1239)tAt>tTt	p.Y413F	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	261					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.Y413F(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AATGAAGATTATAAGTAAGTT	0.313																																																1	Substitution - Missense(1)	kidney(1)											72	78	76					8																	104444966		2202	4296	6498	SO:0001583	missense	25879			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1238A>T	8.37:g.104444966A>T	ENSP00000297579:p.Tyr413Phe		Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154053	0.38021	.	.	ENSG00000164934	ENST00000297579	T	0.01295	5.04	5.45	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.125796	0.56097	N	0.000030	T	0.01800	0.0057	L	0.43598	1.365	0.80722	D	1	B	0.12630	0.006	B	0.17979	0.02	T	0.55761	-0.8090	10	0.34782	T	0.22	-9.8158	9.946	0.41609	0.7288:0.0:0.0:0.2712	.	261	Q9NV06	DCA13_HUMAN	F	413	ENSP00000297579:Y413F	ENSP00000297579:Y413F	Y	+	2	0	DCAF13	104514142	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.479000	0.66813	0.954000	0.37851	0.460000	0.39030	TAT		0.313	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		T	104444966	A	T	104444966	3	4	202	1	0	0	0	0	1	0	0	0	4268	449	16	5	1264	5	DCAF13	8	104444966	Missense_Mutation	SNP	A	TCGA-B0-5120-01A-01D-1421-08	48905635	104444966	41919056	26	12379											
C9orf66	157983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	214612	214612	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr9:214612C>A	ENST00000382387.2	-	1	1281	c.785G>T	c.(784-786)cGg>cTg	p.R262L	DOCK8_ENST00000453981.1_5'Flank|DOCK8_ENST00000432829.2_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	262	Arg-rich.							p.R262L(1)		central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		ATGGAGCTTCCGGCCTGCGCG	0.716																																																1	Substitution - Missense(1)	kidney(1)											22	23	22					9																	214612		2203	4300	6503	SO:0001583	missense	157983			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.785G>T	9.37:g.214612C>A	ENSP00000371824:p.Arg262Leu		Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	.	11.03	1.520304	0.27211	.	.	ENSG00000183784	ENST00000382387	T	0.20332	2.08	3.56	3.56	0.40772	.	.	.	.	.	T	0.25121	0.0610	N	0.08118	0	0.23473	N	0.997607	D	0.89917	1.0	D	0.77557	0.99	T	0.14671	-1.0464	9	0.87932	D	0	.	10.9351	0.47241	0.0:1.0:0.0:0.0	.	262	Q5T8R8	CI066_HUMAN	L	262	ENSP00000371824:R262L	ENSP00000371824:R262L	R	-	2	0	C9orf66	204612	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	3.106000	0.50322	2.278000	0.76064	0.484000	0.47621	CGG		0.716	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		A	214612	C	A	214612	3	1	202	1	0	0	0	0	1	0	0	0	2492	652	23	4	106	4	C9orf66	9	214612	Missense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08		214612	140998819	27	12380											
ZNF782	158431	broad.mit.edu;ucsc.edu	37	9	99580322	99580322	+	Silent	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr9:99580322G>A	ENST00000481138.1	-	6	2644	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	ZNF782_ENST00000535338.1_Silent_p.L529L|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L661L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGTACTCTGAGATTGGATT	0.413																																																1	Substitution - coding silent(1)	kidney(1)											117	114	115					9																	99580322		2203	4300	6503	SO:0001819	synonymous_variant	158431			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1983C>T	9.37:g.99580322G>A			B2RNR0	Silent	SNP	ENST00000481138.1	37	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	g	5.090	0.202323	0.09652	.	.	ENSG00000196597	ENST00000289032	.	.	.	2.78	1.88	0.25563	.	.	.	.	.	.	.	.	.	.	.	0.22601	N	0.998946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9822	0.14172	0.2804:0.0:0.7196:0.0	.	.	.	.	X	650	.	.	Q	-	1	0	ZNF782	98620143	0.000000	0.05858	0.993000	0.49108	0.997000	0.91878	-1.146000	0.03191	0.733000	0.32492	0.655000	0.94253	CAG		0.413	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		A	99580322	G	A	99580322	2	1	202	1	0	0	0	0	0	0	0	1	18160	1277	45	2		2	ZNF782	9	99580322	Silent	SNP	G	TCGA-B0-5120-01A-01D-1421-08	99365710	99580322	41633109	28	12381											
LOXL4	84171	hgsc.bcm.edu;ucsc.edu	37	10	100018882	100018882	+	Missense_Mutation	SNP	G	G	C	rs151150208		TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr10:100018882G>C	ENST00000260702.3	-	6	955	c.805C>G	c.(805-807)Cgg>Ggg	p.R269G	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	269	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		AGCTTGCCCCGGGCTGGAGCC	0.637																																																0													35	31	33					10																	100018882		2203	4300	6503	SO:0001583	missense	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.805C>G	10.37:g.100018882G>C	ENSP00000260702:p.Arg269Gly		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	G	7.584	0.669448	0.14776	.	.	ENSG00000138131	ENST00000260702	T	0.34859	1.34	4.9	0.325	0.15903	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.005890	0.07987	N	0.986430	T	0.30070	0.0753	L	0.35793	1.09	0.09310	N	1	B	0.28760	0.221	B	0.32928	0.155	T	0.35176	-0.9799	10	0.26408	T	0.33	.	10.7679	0.46305	0.0:0.1063:0.5228:0.3708	.	269	Q96JB6	LOXL4_HUMAN	G	269	ENSP00000260702:R269G	ENSP00000260702:R269G	R	-	1	2	LOXL4	100008872	0.003000	0.15002	0.020000	0.16555	0.516000	0.34256	1.199000	0.32235	0.421000	0.25980	0.313000	0.20887	CGG		0.637	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		C	100018882	G	C	100018882	3	2	202	1	0	0	0	0	1	0	0	0	8904	1115	39	4	1505	4	LOXL4	10	100018882	Missense_Mutation	SNP	G	TCGA-B0-5120-01A-01D-1421-08		100018882	35515865	29	12382											
PDZD8	118987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	119049791	119049791	+	Silent	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr10:119049791C>A	ENST00000334464.5	-	4	1406	c.1167G>T	c.(1165-1167)ggG>ggT	p.G389G	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	389	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.G389G(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GCCCAGCATACCCATCAGTTG	0.418																																																1	Substitution - coding silent(1)	kidney(1)											115	101	105					10																	119049791		2203	4300	6503	SO:0001819	synonymous_variant	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1167G>T	10.37:g.119049791C>A			Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	CCDS7600.1																																																																																				0.418	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		A	119049791	C	A	119049791	2	1	202	1	0	0	0	0	0	0	0	1	11707	494	18	4		4	PDZD8	10	119049791	Silent	SNP	C	TCGA-B0-5120-01A-01D-1421-08	19030909	119049791	16484956	30	12383											
NAV2	89797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	20124911	20124911	+	Silent	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr11:20124911G>A	ENST00000396087.3	+	36	6804	c.6705G>A	c.(6703-6705)ctG>ctA	p.L2235L	NAV2_ENST00000527559.2_Silent_p.L2164L|NAV2_ENST00000533917.1_Silent_p.L1240L|NAV2_ENST00000349880.4_Silent_p.L2176L|NAV2_ENST00000396085.1_Silent_p.L2179L|NAV2_ENST00000360655.4_Silent_p.L2112L|NAV2_ENST00000540292.1_Silent_p.L2166L|NAV2_ENST00000311043.8_Silent_p.L1240L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2235					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.L2235L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGAGCTCTCTGGGAGAGATCT	0.542																																																1	Substitution - coding silent(1)	kidney(1)											161	133	143					11																	20124911		2203	4300	6503	SO:0001819	synonymous_variant	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6705G>A	11.37:g.20124911G>A			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		A	20124911	G	A	20124911	2	1	202	1	0	0	0	0	0	0	0	1	10186	1335	47	2		2	NAV2	11	20124911	Silent	SNP	G	TCGA-B0-5120-01A-01D-1421-08		20124911	114881605	31	12384											
MS4A14	84689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60164109	60164109	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr11:60164109G>C	ENST00000300187.6	+	1	335	c.58G>C	c.(58-60)Gaa>Caa	p.E20Q	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.E20Q|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Missense_Mutation_p.E20Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	20						integral component of membrane (GO:0016021)		p.E20Q(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAAACCAAACGAAACTGTATT	0.458																																																1	Substitution - Missense(1)	kidney(1)											130	102	112					11																	60164109		2203	4300	6503	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.58G>C	11.37:g.60164109G>C	ENSP00000300187:p.Glu20Gln		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618173	0.46736	.	.	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.35048	2.69;1.33;1.43;3.01	4.53	1.2	0.21068	.	1.294780	0.05037	N	0.475675	T	0.41719	0.1171	L	0.32530	0.975	0.09310	N	0.999998	D;D	0.56521	0.976;0.959	P;P	0.55749	0.783;0.611	T	0.34800	-0.9814	10	0.66056	D	0.02	-7.8385	7.224	0.26005	0.0:0.3602:0.4546:0.1851	.	20;20	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Q	20	ENSP00000300187:E20Q;ENSP00000378453:E20Q;ENSP00000435764:E20Q;ENSP00000433761:E20Q	ENSP00000300187:E20Q	E	+	1	0	MS4A14	59920685	0.119000	0.22226	0.002000	0.10522	0.011000	0.07611	1.565000	0.36386	0.570000	0.29347	0.655000	0.94253	GAA		0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			C	60164109	G	C	60164109	3	2	202	1	0	0	0	0	1	0	0	0	9860	1059	37	4	60	4	MS4A14	11	60164109	Missense_Mutation	SNP	G	TCGA-B0-5120-01A-01D-1421-08	40039198	60164109	74842407	32	12385											
SLC22A10	387775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63057715	63057715	+	Silent	SNP	C	C	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr11:63057715C>G	ENST00000332793.6	+	1	80	c.78C>G	c.(76-78)ccC>ccG	p.P26P	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000526800.1_5'Flank|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	26						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.P26P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TTATTCTTCCCTCTCTCATGT	0.458																																																1	Substitution - coding silent(1)	kidney(1)											85	84	85					11																	63057715		2021	4221	6242	SO:0001819	synonymous_variant	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.78C>G	11.37:g.63057715C>G			Q68CJ0	Silent	SNP	ENST00000332793.6	37	CCDS41661.1																																																																																				0.458	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		G	63057715	C	G	63057715	2	3	202	1	0	0	0	0	0	0	0	1	14447	668	24	4		4	SLC22A10	11	63057715	Silent	SNP	C	TCGA-B0-5120-01A-01D-1421-08	2893606	63057715	71948801	33	12386											
DRD2	1813	broad.mit.edu;hgsc.bcm.edu	37	11	113295088	113295088	+	Splice_Site	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr11:113295088C>T	ENST00000362072.3	-	2	630		c.e2+1		DRD2_ENST00000538967.1_Splice_Site|DRD2_ENST00000535984.1_Splice_Site|DRD2_ENST00000544518.1_Missense_Mutation_p.V96I|DRD2_ENST00000346454.3_Splice_Site|DRD2_ENST00000542968.1_Splice_Site|DRD2_ENST00000355319.2_Splice_Site	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2						activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGCCCACCTACCTCCAGGTAG	0.612																																																1	Unknown(1)	kidney(1)											51	46	48					11																	113295088		2200	4295	6495	SO:0001630	splice_region_variant	1813			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.285+1G>A	11.37:g.113295088C>T			Q9NZR3|Q9UPA9	Splice_Site	SNP	ENST00000362072.3	37	CCDS8361.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.371696|4.371696	0.82573|0.82573	.|.	.|.	ENSG00000149295|ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000542968;ENST00000538967;ENST00000543292|ENST00000544518	.|T	.|0.73897	.|-0.79	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70448	.|0.3225	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.17433	.|0.018	.|T	.|0.65413	.|-0.6174	.|8	.|0.44086	.|T	.|0.13	.|.	18.9437|18.9437	0.92613|0.92613	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|96	.|F8VUV1	.|.	.|I	-1|96	.|ENSP00000441068:V96I	.|ENSP00000441068:V96I	.|V	-|-	.|1	.|0	DRD2|DRD2	112800298|112800298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.758000|7.758000	0.85224|0.85224	2.469000|2.469000	0.83416|0.83416	0.561000|0.561000	0.74099|0.74099	.|GTA		0.612	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795	Intron	T	113295088	C	T	113295088	5	4	202	1	0	0	0	0	0	0	1	0	4759	521	18	2	1073	2	DRD2	11	113295088	Splice_Site	SNP	C	TCGA-B0-5120-01A-01D-1421-08	50237373	113295088	21711428	34	12387											
SLC2A14	144195	broad.mit.edu;hgsc.bcm.edu	37	12	7967026	7967026	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr12:7967026C>A	ENST00000543909.1	-	16	2208	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	SLC2A14_ENST00000542546.1_Missense_Mutation_p.E374D|SLC2A14_ENST00000340749.5_Missense_Mutation_p.E460D|SLC2A14_ENST00000539924.1_Missense_Mutation_p.E498D|SLC2A14_ENST00000542505.1_Missense_Mutation_p.E124D|SLC2A14_ENST00000535295.1_Missense_Mutation_p.E374D|SLC2A14_ENST00000431042.2_Missense_Mutation_p.E460D|SLC2A14_ENST00000396589.2_Missense_Mutation_p.E483D			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	483					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.E483D(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTGTGATATCCTCAAAAGTCC	0.512																																																1	Substitution - Missense(1)	kidney(1)											96	77	84					12																	7967026		2203	4298	6501	SO:0001583	missense	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1449G>T	12.37:g.7967026C>A	ENSP00000440480:p.Glu483Asp		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947159	0.18356	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	3.81	-0.388	0.12459	Major facilitator superfamily domain, general substrate transporter (1);	0.275503	0.39274	N	0.001420	T	0.60830	0.2299	L	0.32530	0.975	0.42787	D	0.993886	B;B;B;B	0.20780	0.048;0.017;0.014;0.011	B;B;B;B	0.31016	0.123;0.074;0.016;0.023	T	0.31641	-0.9936	10	0.14656	T	0.56	.	4.6527	0.12603	0.0:0.5282:0.1645:0.3073	.	498;374;460;483	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	D	460;483;460;124;483;374;374;498	ENSP00000340450:E460D;ENSP00000440480:E483D;ENSP00000407287:E460D;ENSP00000438484:E124D;ENSP00000379834:E483D;ENSP00000440492:E374D;ENSP00000443903:E374D;ENSP00000445929:E498D	ENSP00000340450:E460D	E	-	3	2	SLC2A14	7858293	0.998000	0.40836	0.694000	0.30210	0.968000	0.65278	0.327000	0.19663	-0.065000	0.13021	0.460000	0.39030	GAG		0.512	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		A	7967026	C	A	7967026	3	1	202	1	0	0	0	0	1	0	0	0	14549	680	24	4	117	4	SLC2A14	12	7967026	Missense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08		7967026	125884869	35	12388											
M6PR	4074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9098098	9098098	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr12:9098098C>A	ENST00000000412.3	-	3	727	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	87					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)	p.G87W(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	AGGCCTGCCCCAGAAGTGTGG	0.507																																																1	Substitution - Missense(1)	kidney(1)											199	160	173					12																	9098098		2203	4300	6503	SO:0001583	missense	4074				CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.259G>T	12.37:g.9098098C>A	ENSP00000000412:p.Gly87Trp		A8K528|D3DUV5	Missense_Mutation	SNP	ENST00000000412.3	37	CCDS8598.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964890	0.74131	.	.	ENSG00000003056	ENST00000000412;ENST00000543845;ENST00000543159	T;T;T	0.79454	-1.27;-1.27;-1.27	5.64	5.64	0.86602	Mannose-6-phosphate receptor, binding (1);	0.178952	0.48286	D	0.000197	T	0.81103	0.4753	L	0.43923	1.385	0.39852	D	0.973255	D	0.89917	1.0	D	0.69654	0.965	T	0.82625	-0.0365	10	0.87932	D	0	-22.8028	7.5698	0.27900	0.1656:0.7523:0.0:0.0821	.	87	P20645	MPRD_HUMAN	W	87	ENSP00000000412:G87W;ENSP00000440962:G87W;ENSP00000441030:G87W	ENSP00000000412:G87W	G	-	1	0	M6PR	8989365	0.095000	0.21747	1.000000	0.80357	0.975000	0.68041	1.456000	0.35201	2.651000	0.90000	0.650000	0.86243	GGG		0.507	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			A	9098098	C	A	9098098	3	1	202	1	0	0	0	0	1	0	0	0	9142	594	21	4	594	4	M6PR	12	9098098	Missense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08	1131072	9098098	124753797	36	12389											
PPHLN1	51535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	42748967	42748967	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr12:42748967A>T	ENST00000395568.2	+	4	326	c.242A>T	c.(241-243)gAa>gTa	p.E81V	PPHLN1_ENST00000395580.3_Missense_Mutation_p.E88V|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000337898.6_Missense_Mutation_p.E26V|PPHLN1_ENST00000317560.9_Missense_Mutation_p.E33V|PPHLN1_ENST00000358314.7_Missense_Mutation_p.E81V|PPHLN1_ENST00000432191.2_Missense_Mutation_p.E26V|PPHLN1_ENST00000552761.1_Missense_Mutation_p.E33V|PPHLN1_ENST00000549190.1_Missense_Mutation_p.E99V|PPHLN1_ENST00000449194.2_Missense_Mutation_p.E81V	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	81					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E81V(2)|p.E88V(1)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTACAGGATGAATCTGGTTAT	0.348																																																3	Substitution - Missense(3)	kidney(3)											96	97	97					12																	42748967		2203	4300	6503	SO:0001583	missense	51535			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.242A>T	12.37:g.42748967A>T	ENSP00000378935:p.Glu81Val		E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091065	0.76756	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191;ENST00000546750;ENST00000547847	.	.	.	6.17	5.04	0.67666	.	0.293120	0.33023	N	0.005366	T	0.67832	0.2935	M	0.66939	2.045	0.38192	D	0.939932	P;P;P;P;D;P;B;B;B;B;P;B	0.54601	0.716;0.893;0.594;0.594;0.967;0.893;0.236;0.231;0.426;0.433;0.95;0.433	B;P;B;B;P;B;B;B;B;B;P;B	0.57244	0.386;0.51;0.295;0.295;0.816;0.423;0.147;0.283;0.234;0.283;0.687;0.394	T	0.73154	-0.4072	9	0.72032	D	0.01	-7.0197	10.2577	0.43408	0.9263:0.0:0.0737:0.0	.	33;26;26;33;26;81;81;81;33;88;33;99	F8WF16;B7Z695;B7Z8L1;B7Z615;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;Q8NEY8-5;F8W0Q9	.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.;.	V	99;88;26;81;81;81;33;33;26;88;81	.	ENSP00000322048:E33V	E	+	2	0	PPHLN1	41035234	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	1.163000	0.42636	0.533000	0.62120	GAA		0.348	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		T	42748967	A	T	42748967	3	4	202	1	0	0	0	0	1	0	0	0	12317	246	9	5	277	5	PPHLN1	12	42748967	Missense_Mutation	SNP	A	TCGA-B0-5120-01A-01D-1421-08	33650869	42748967	91102928	37	12390											
PFKM	5213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48516579	48516579	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr12:48516579G>C	ENST00000312352.7	+	2	61	c.22G>C	c.(22-24)Gca>Cca	p.A8P	PFKM_ENST00000359794.5_Missense_Mutation_p.A8P|PFKM_ENST00000551804.1_Missense_Mutation_p.A8P|PFKM_ENST00000340802.6_Missense_Mutation_p.A79P|PFKM_ENST00000395233.2_Missense_Mutation_p.A8P|PFKM_ENST00000551548.1_3'UTR|PFKM_ENST00000547587.1_Missense_Mutation_p.A8P	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	8	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.A8P(1)|p.A79P(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGAGCACCATGCAGCCAAAAC	0.488																																																2	Substitution - Missense(2)	kidney(2)											105	109	108					12																	48516579		2203	4300	6503	SO:0001583	missense	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.22G>C	12.37:g.48516579G>C	ENSP00000309438:p.Ala8Pro		J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989622	0.53934	.	.	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000550924;ENST00000549941;ENST00000550257;ENST00000340802;ENST00000546755;ENST00000549366;ENST00000552792;ENST00000548288;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352;ENST00000546465	T;T;T;T;D;T;D;D;D;T;T;T;T;T;T;T;T;T	0.87256	-0.53;-1.11;-1.11;-1.13;-2.23;-1.45;-2.12;-2.18;-2.19;-1.44;-1.11;-1.44;-1.11;-1.44;-0.53;-1.44;-1.44;-1.42	5.3	5.3	0.74995	.	0.112507	0.64402	D	0.000017	T	0.72692	0.3492	N	0.03608	-0.345	0.37767	D	0.926549	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.09377	0.001;0.001;0.004	T	0.69273	-0.5188	10	0.29301	T	0.29	-6.7101	14.6753	0.68975	0.0:0.0:1.0:0.0	.	8;8;79	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	P	8;8;8;41;82;79;111;111;79;79;8;8;8;8;8;8;8;8;8	ENSP00000450369:A8P;ENSP00000449835:A8P;ENSP00000446945:A8P;ENSP00000446829:A41P;ENSP00000447997:A82P;ENSP00000345771:A79P;ENSP00000449622:A111P;ENSP00000448940:A79P;ENSP00000448018:A79P;ENSP00000352842:A8P;ENSP00000448253:A8P;ENSP00000378656:A8P;ENSP00000449269:A8P;ENSP00000448177:A8P;ENSP00000446805:A8P;ENSP00000449426:A8P;ENSP00000309438:A8P;ENSP00000446519:A8P	ENSP00000309438:A8P	A	+	1	0	PFKM	46802846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.878000	0.48515	2.932000	0.99384	0.643000	0.83706	GCA		0.488	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		C	48516579	G	C	48516579	3	2	202	1	0	0	0	0	1	0	0	0	11767	1319	46	4	245	4	PFKM	12	48516579	Missense_Mutation	SNP	G	TCGA-B0-5120-01A-01D-1421-08	5767612	48516579	85335316	38	12391											
AMHR2	269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53819616	53819616	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr12:53819616C>A	ENST00000257863.4	+	6	845	c.765C>A	c.(763-765)gaC>gaA	p.D255E	AMHR2_ENST00000379791.3_Missense_Mutation_p.D255E|AMHR2_ENST00000550311.1_Missense_Mutation_p.D255E	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.D255E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TACAGCACGACCACATTGTCC	0.587																																																1	Substitution - Missense(1)	kidney(1)											70	61	64					12																	53819616		2203	4300	6503	SO:0001583	missense	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.765C>A	12.37:g.53819616C>A	ENSP00000257863:p.Asp255Glu		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844744	0.51164	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	D;D;D	0.92911	-3.13;-3.13;-3.13	5.66	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.563039	0.14981	N	0.287248	T	0.80742	0.4681	N	0.05012	-0.13	0.33608	D	0.603216	B;B	0.13594	0.006;0.008	B;B	0.19391	0.009;0.025	T	0.73075	-0.4097	10	0.02654	T	1	.	12.4837	0.55859	0.0:0.8082:0.1918:0.0	.	255;255	F8W1D2;Q16671	.;AMHR2_HUMAN	E	255	ENSP00000257863:D255E;ENSP00000446661:D255E;ENSP00000369117:D255E	ENSP00000257863:D255E	D	+	3	2	AMHR2	52105883	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.126000	0.31344	1.530000	0.49136	0.655000	0.94253	GAC		0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		A	53819616	C	A	53819616	3	1	202	1	0	0	0	0	1	0	0	0	573	506	18	4	787	4	AMHR2	12	53819616	Missense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08	5303037	53819616	80032279	39	12392											
TMC3	342125	broad.mit.edu	37	15	81633742	81633742	+	Silent	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr15:81633742A>G	ENST00000359440.5	-	16	1968	c.1833T>C	c.(1831-1833)ttT>ttC	p.F611F	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Silent_p.F612F|RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.F611F(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTGAGGCTCGAAATACTTGCT	0.473																																																1	Substitution - coding silent(1)	kidney(1)											43	43	43					15																	81633742		1941	4145	6086	SO:0001819	synonymous_variant	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1833T>C	15.37:g.81633742A>G				Silent	SNP	ENST00000359440.5	37	CCDS45324.1																																																																																				0.473	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		G	81633742	A	G	81633742	2	3	202	1	0	0	0	0	0	0	0	1	15991	243	9	3		3	TMC3	15	81633742	Silent	SNP	A	TCGA-B0-5120-01A-01D-1421-08		81633742	20897650	40	12393											
RUNDC2A	92017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	12136850	12136850	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr16:12136850G>T	ENST00000566228.1	+	5	413	c.344G>T	c.(343-345)gGt>gTt	p.G115V	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	115	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.G115V(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GTGGGCCGGGGTCGCGCCTGG	0.652																																																1	Substitution - Missense(1)	kidney(1)											41	33	36					16																	12136850		2197	4300	6497	SO:0001583	missense	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.344G>T	16.37:g.12136850G>T	ENSP00000456480:p.Gly115Val		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850884	0.91277	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.64	4.64	0.57946	.	0.068825	0.56097	D	0.000030	T	0.75627	0.3875	M	0.74467	2.265	0.80722	D	1	.	.	.	.	.	.	T	0.78914	-0.2016	7	0.62326	D	0.03	-16.4279	16.2512	0.82489	0.0:0.0:1.0:0.0	.	.	.	.	V	115	.	ENSP00000268271:G115V	G	+	2	0	RUNDC2A	12044351	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	9.354000	0.97083	2.404000	0.81709	0.462000	0.41574	GGT		0.652	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			T	12136850	G	T	12136850	3	4	202	1	0	0	0	0	1	0	0	0	13749	1261	44	4	362	4	RUNDC2A	16	12136850	Missense_Mutation	SNP	G	TCGA-B0-5120-01A-01D-1421-08		12136850	78217903	41	12394											
CMTM1	113540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66612797	66612797	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr16:66612797A>G	ENST00000457188.2	+	4	524	c.403A>G	c.(403-405)Agg>Ggg	p.R135G	CMTM1_ENST00000336328.6_Missense_Mutation_p.R82G|CMTM2_ENST00000268595.2_5'Flank|CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000533953.1_Missense_Mutation_p.R204G|CMTM1_ENST00000529506.1_Missense_Mutation_p.R36G|CMTM1_ENST00000528324.1_3'UTR|CMTM2_ENST00000379486.2_5'Flank|CMTM1_ENST00000328020.6_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CMTM1_ENST00000332695.7_Missense_Mutation_p.R88G|RP11-403P17.2_ENST00000568430.1_RNA|CMTM1_ENST00000379500.2_Missense_Mutation_p.R252G|CKLF-CMTM1_ENST00000527729.1_Missense_Mutation_p.R81G	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	135	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R252G(1)|p.R82G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CACGAAGATGAGGACCAACTT	0.562																																																2	Substitution - Missense(2)	kidney(2)											170	146	154					16																	66612797		2201	4300	6501	SO:0001583	missense	113540			AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"chemokine-like factor super family 1", "chemokine-like factor superfamily 1"	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.403A>G	16.37:g.66612797A>G	ENSP00000405729:p.Arg135Gly		Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Missense_Mutation	SNP	ENST00000457188.2	37	CCDS45503.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989184	0.53934	.	.	ENSG00000254788;ENSG00000089505;ENSG00000089505;ENSG00000089505;ENSG00000089505;ENSG00000089505	ENST00000527729;ENST00000332695;ENST00000336328;ENST00000457188;ENST00000533953;ENST00000379500	T;T;T;T;T	0.60424	0.19;0.61;1.8;0.53;1.76	4.13	4.13	0.48395	Marvel (1);	.	.	.	.	T	0.66867	0.2833	L	0.46157	1.445	0.34056	D	0.656733	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.80764	0.976;0.993;0.988;0.994	T	0.74581	-0.3618	9	0.59425	D	0.04	-23.3794	9.8366	0.40973	1.0:0.0:0.0:0.0	.	252;88;82;135	Q6PEV5;Q8IZ96-5;Q8IZ96-6;Q8IZ96	.;.;.;CKLF1_HUMAN	G	81;88;82;135;204;252	ENSP00000331428:R88G;ENSP00000337119:R82G;ENSP00000405729:R135G;ENSP00000435786:R204G;ENSP00000368814:R252G	ENSP00000433998:R81G	R	+	1	2	CMTM1;CKLF-CMTM1	65170298	0.814000	0.29104	0.033000	0.17914	0.014000	0.08584	3.514000	0.53422	2.089000	0.63090	0.454000	0.30748	AGG		0.562	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		G	66612797	A	G	66612797	3	3	202	1	0	0	0	0	1	0	0	0	3584	295	11	3	768	3	CMTM1	16	66612797	Missense_Mutation	SNP	A	TCGA-B0-5120-01A-01D-1421-08	54475947	66612797	23741956	42	12395											
SERPINF2	5345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1648687	1648687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr17:1648687C>T	ENST00000324015.3	+	4	240	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	SERPINF2_ENST00000450523.2_Nonsense_Mutation_p.Q55*|SERPINF2_ENST00000382061.4_Nonsense_Mutation_p.Q55*	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	55					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q55*(1)		breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	GTTGGGCAACCAGGTACAACC	0.667																																																1	Substitution - Nonsense(1)	kidney(1)											37	35	36					17																	1648687		2203	4300	6503	SO:0001587	stop_gained	5345			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.163C>T	17.37:g.1648687C>T	ENSP00000321853:p.Gln55*		B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Nonsense_Mutation	SNP	ENST00000324015.3	37	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711492	0.89112	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000450523;ENST00000423861;ENST00000453723;ENST00000382061	.	.	.	4.55	3.57	0.40892	.	0.773939	0.12401	N	0.472084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1767	0.42943	0.1984:0.8016:0.0:0.0	.	.	.	.	X	55	.	ENSP00000321853:Q55X	Q	+	1	0	SERPINF2	1595437	0.998000	0.40836	1.000000	0.80357	0.955000	0.61496	1.037000	0.30241	1.260000	0.44134	0.561000	0.74099	CAG		0.667	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		T	1648687	C	T	1648687	4	4	202	1	0	0	0	0	0	1	0	0	14121	595	21	2	173	2	SERPINF2	17	1648687	Nonsense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08		1648687	79546523	43	12396											
SMG6	23293	broad.mit.edu;hgsc.bcm.edu	37	17	1964808	1964808	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr17:1964808A>G	ENST00000263073.6	-	19	4288	c.4238T>C	c.(4237-4239)cTc>cCc	p.L1413P	SMG6_ENST00000536871.2_Missense_Mutation_p.L505P|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000354901.4_Missense_Mutation_p.L505P|SMG6_ENST00000544865.1_Missense_Mutation_p.L1382P	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1413					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.L1413P(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGCCCACGTGAGGAAGGCTGG	0.647																																					Melanoma(59;28 1088 11621 25887 46638 50814)											1	Substitution - Missense(1)	kidney(1)											52	31	38					17																	1964808		2196	4290	6486	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.4238T>C	17.37:g.1964808A>G	ENSP00000263073:p.Leu1413Pro		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696122	0.88830	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.21734	2.75;2.75;1.99	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000009	T	0.41926	0.1180	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28073	-1.0055	10	0.87932	D	0	-4.7929	15.3497	0.74373	1.0:0.0:0.0:0.0	.	1413	Q86US8	EST1A_HUMAN	P	1413;1382;324;505	ENSP00000263073:L1413P;ENSP00000443920:L1382P;ENSP00000440283:L505P	ENSP00000263073:L1413P	L	-	2	0	SMG6	1911558	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.228000	0.95250	2.107000	0.64212	0.533000	0.62120	CTC		0.647	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			G	1964808	A	G	1964808	3	3	202	1	0	0	0	0	1	0	0	0	14803	304	11	3	25	3	SMG6	17	1964808	Missense_Mutation	SNP	A	TCGA-B0-5120-01A-01D-1421-08	316121	1964808	79230402	44	12397											
POLR2A	5430	hgsc.bcm.edu;ucsc.edu	37	17	7404417	7404417	+	Frame_Shift_Del	DEL	C	C	-	rs184151556		TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr17:7404417delC	ENST00000322644.6	+	12	2439	c.2040delC	c.(2038-2040)ctcfs	p.L681fs		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	681					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACAACTGGCTCCTCATCGAGG	0.502																																																0													145	125	132					17																	7404417		2203	4300	6503	SO:0001589	frameshift_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2040delC	17.37:g.7404417delC	ENSP00000314949:p.Leu681fs		A6NN93|B9EH88|Q6NX41	Frame_Shift_Del	DEL	ENST00000322644.6	37	CCDS32548.1																																																																																				0.502	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		-	7404417	C	-	7404417	7	5	202	1	0	1	0	1	0	0	0	0	12216	842	30	0	2086	0	POLR2A	17	7404417	Frame_Shift_Del	DEL	C	TCGA-B0-5120-01A-01D-1421-08	5439609	7404417	73790793	45	12398											
ABCA10	10349	hgsc.bcm.edu;ucsc.edu	37	17	67186562	67186562	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr17:67186562delA	ENST00000269081.4	-	19	2977	c.2068delT	c.(2068-2070)tcafs	p.S690fs	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	690					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GATGTCACTGAAACAGCATAA	0.328																																																0													101	96	98					17																	67186562		2203	4299	6502	SO:0001589	frameshift_variant	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2068delT	17.37:g.67186562delA	ENSP00000269081:p.Ser690fs		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Frame_Shift_Del	DEL	ENST00000269081.4	37	CCDS11684.1																																																																																				0.328	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		-	67186562	A	-	67186562	7	5	202	1	0	1	0	1	0	0	0	0	29	246	9	0	2651	0	ABCA10	17	67186562	Frame_Shift_Del	DEL	A	TCGA-B0-5120-01A-01D-1421-08	59782145	67186562	14008648	46	12399											
CD300E	342510	broad.mit.edu;hgsc.bcm.edu	37	17	72613604	72613604	+	Splice_Site	SNP	C	C	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr17:72613604C>G	ENST00000328630.3	-	2	81	c.41G>C	c.(40-42)gGc>gCc	p.G14A	CD300E_ENST00000392619.1_Splice_Site_p.G41A|CD300E_ENST00000426295.2_Splice_Site_p.G55A			Q496F6	CLM2_HUMAN	CD300e molecule	14					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G14A(1)|p.G55A(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AGACAAACAGCCTGGAAAACA	0.557																																																2	Substitution - Missense(2)	kidney(2)											36	32	33					17																	72613604		2203	4300	6503	SO:0001630	splice_region_variant	342510			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	28874	protein-coding gene	gene with protein product		609801	"CD300 antigen like family member E", "CD300e antigen"	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.41-1G>C	17.37:g.72613604C>G			B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584111	0.65992	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	T;T;T;T	0.08896	3.59;3.59;3.62;3.04	4.62	3.64	0.41730	Immunoglobulin-like (1);	0.000000	0.41194	D	0.000937	T	0.21227	0.0511	M	0.75777	2.31	0.29568	N	0.850123	D	0.76494	0.999	D	0.63703	0.917	T	0.01413	-1.1361	10	0.42905	T	0.14	.	7.7141	0.28694	0.0:0.8881:0.0:0.1119	.	14	Q496F6	CLM2_HUMAN	A	41;55;14;16	ENSP00000376395:G41A;ENSP00000416642:G55A;ENSP00000329942:G14A;ENSP00000415488:G16A	ENSP00000329942:G14A	G	-	2	0	CD300E	70125199	0.890000	0.30428	0.976000	0.42696	0.900000	0.52787	1.107000	0.31110	2.508000	0.84585	0.467000	0.42956	GGC		0.557	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449	Missense_Mutation	G	72613604	C	G	72613604	5	3	202	1	0	0	0	0	0	0	1	0	3000	753	26	4	588	4	CD300E	17	72613604	Splice_Site	SNP	C	TCGA-B0-5120-01A-01D-1421-08	5427042	72613604	8581606	47	12400											
COLEC12	81035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	480713	480713	+	Silent	SNP	G	G	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr18:480713G>T	ENST00000400256.3	-	2	259	c.52C>A	c.(52-54)Cgg>Agg	p.R18R		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	18					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.R18R(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCACCAAACCGCTTGTAACCG	0.552																																																1	Substitution - coding silent(1)	kidney(1)											222	138	167					18																	480713		2203	4300	6503	SO:0001819	synonymous_variant	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.52C>A	18.37:g.480713G>T			Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	CCDS32782.1																																																																																				0.552	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			T	480713	G	T	480713	2	4	202	1	0	0	0	0	0	0	0	1	3714	1086	38	4		4	COLEC12	18	480713	Silent	SNP	G	TCGA-B0-5120-01A-01D-1421-08		480713	77596535	48	12401											
USHBP1	83878	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17366335	17366335	+	Silent	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr19:17366335G>A	ENST00000252597.3	-	10	1724	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	USHBP1_ENST00000431146.2_Silent_p.L453L|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.L517L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCAGGGCTCGGAGGGCAGCCT	0.687																																																1	Substitution - coding silent(1)	kidney(1)											25	27	26					19																	17366335		2202	4299	6501	SO:0001819	synonymous_variant	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1551C>T	19.37:g.17366335G>A				Silent	SNP	ENST00000252597.3	37	CCDS12353.1																																																																																				0.687	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		A	17366335	G	A	17366335	2	1	202	1	0	0	0	0	0	0	0	1	17042	1161	41	2		2	USHBP1	19	17366335	Silent	SNP	G	TCGA-B0-5120-01A-01D-1421-08		17366335	41762648	49	12402											
ZNF708	7562	broad.mit.edu;hgsc.bcm.edu	37	19	21492050	21492050	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr19:21492050G>A	ENST00000356929.3	-	3	421	c.224C>T	c.(223-225)cCa>cTa	p.P75L		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P75L(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCACCTACCTGGGGGTTTGGC	0.438																																																1	Substitution - Missense(1)	kidney(1)											114	111	112					19																	21492050		2203	4298	6501	SO:0001583	missense	7562			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.224C>T	19.37:g.21492050G>A	ENSP00000349401:p.Pro75Leu		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	5.638	0.302412	0.10678	.	.	ENSG00000182141	ENST00000356929	T	0.06687	3.27	0.225	0.225	0.15325	Krueppel-associated box (1);	.	.	.	.	T	0.10551	0.0258	M	0.73372	2.23	0.09310	N	0.999993	B	0.14438	0.01	B	0.17722	0.019	T	0.26780	-1.0093	8	0.59425	D	0.04	.	.	.	.	.	75	P17019	ZN708_HUMAN	L	75	ENSP00000349401:P75L	ENSP00000349401:P75L	P	-	2	0	ZNF708	21283890	0.016000	0.18221	0.134000	0.22075	0.138000	0.21146	0.083000	0.14871	0.300000	0.22699	0.305000	0.20034	CCA		0.438	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		A	21492050	G	A	21492050	3	1	202	1	0	0	0	0	1	0	0	0	18117	1348	47	2	1475	2	ZNF708	19	21492050	Missense_Mutation	SNP	G	TCGA-B0-5120-01A-01D-1421-08	4125715	21492050	37636933	50	12403											
CD22	933	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35831892	35831892	+	Missense_Mutation	SNP	G	G	C	rs369908101		TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr19:35831892G>C	ENST00000085219.5	+	7	1424	c.1358G>C	c.(1357-1359)cGg>cCg	p.R453P	CD22_ENST00000419549.2_Missense_Mutation_p.R281P|CD22_ENST00000341773.6_Missense_Mutation_p.R276P|CD22_ENST00000544992.2_Missense_Mutation_p.R453P|CD22_ENST00000270311.6_Missense_Mutation_p.R333P|CD22_ENST00000594250.1_Missense_Mutation_p.R276P|CD22_ENST00000536635.2_Missense_Mutation_p.R365P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	453	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.R453P(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGTGTTACCCGGTATGAATGG	0.532																																					Ovarian(42;1009 1133 23674 26041)											1	Substitution - Missense(1)	kidney(1)											93	84	87					19																	35831892		2203	4300	6503	SO:0001583	missense	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1358G>C	19.37:g.35831892G>C	ENSP00000085219:p.Arg453Pro		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151747	0.38021	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	4.94	-3.75	0.04372	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.290120	0.01050	N	0.004456	D	0.89040	0.6602	L	0.47716	1.5	0.09310	N	1	P;P;D;D;D	0.63046	0.939;0.947;0.992;0.984;0.968	P;P;D;P;P	0.64237	0.8;0.713;0.923;0.858;0.579	T	0.78518	-0.2173	10	0.36615	T	0.2	.	7.104	0.25353	0.4422:0.1147:0.4431:0.0	.	281;453;365;453;276	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	P	453;365;276;453;333;281	ENSP00000085219:R453P;ENSP00000442279:R365P;ENSP00000339349:R276P;ENSP00000441237:R453P;ENSP00000270311:R333P;ENSP00000403822:R281P	ENSP00000085219:R453P	R	+	2	0	CD22	40523732	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.077000	0.01371	-1.114000	0.02977	-2.069000	0.00389	CGG		0.532	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		C	35831892	G	C	35831892	3	2	202	1	0	0	0	0	1	0	0	0	2987	1116	39	4	1380	4	CD22	19	35831892	Missense_Mutation	SNP	G	TCGA-B0-5120-01A-01D-1421-08	14339842	35831892	23297091	51	12404											
PIGP	51227	broad.mit.edu;ucsc.edu	37	21	38444809	38444809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr21:38444809C>A	ENST00000464265.1	-	1	302	c.79G>T	c.(79-81)Gaa>Taa	p.E27*	TTC3_ENST00000355666.1_5'Flank|PIGP_ENST00000360525.4_Nonsense_Mutation_p.E3*|PIGP_ENST00000329667.3_5'UTR|TTC3_ENST00000540756.1_5'Flank|PIGP_ENST00000399103.1_Nonsense_Mutation_p.E3*|PIGP_ENST00000399098.1_5'UTR|TTC3_ENST00000399010.1_5'Flank|PIGP_ENST00000399102.1_Nonsense_Mutation_p.E3*	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	27					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.E27*(1)		kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				GGTGAATTTTCCACCATTTTT	0.483																																																1	Substitution - Nonsense(1)	kidney(1)											182	188	186					21																	38444809		2203	4300	6503	SO:0001587	stop_gained	51227			AB037162	CCDS13649.1, CCDS13650.1	21q22.2	2013-02-26	2006-06-28	2005-11-10	ENSG00000185808	ENSG00000185808	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	3046	protein-coding gene	gene with protein product	"phosphatidylinositol-n-acetylglucosaminyltranferase subunit"	605938	"Down syndrome critical region gene 5", "phosphatidylinositol glycan, class P"	DSCR5		10814524, 15221505	Standard	NR_028352		Approved	DCRC, DSRC	uc002yvw.1	P57054	OTTHUMG00000086653	ENST00000464265.1:c.79G>T	21.37:g.38444809C>A	ENSP00000420037:p.Glu27*		B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6	Nonsense_Mutation	SNP	ENST00000464265.1	37	CCDS13649.1	.	.	.	.	.	.	.	.	.	.	C	38	7.061213	0.98036	.	.	ENSG00000185808	ENST00000464265;ENST00000360525;ENST00000399102;ENST00000399103	.	.	.	5.4	4.52	0.55395	.	0.049740	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.5152	13.0835	0.59127	0.0:0.9211:0.0:0.0788	.	.	.	.	X	27;3;3;3	.	ENSP00000353719:E3X	E	-	1	0	PIGP	37366679	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.449000	0.73473	1.274000	0.44362	-0.140000	0.14226	GAA		0.483	PIGP-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194769.2	NM_153681		A	38444809	C	A	38444809	4	1	202	1	0	0	0	0	0	1	0	0	11897	864	30	4	413	4	PIGP	21	38444809	Nonsense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08		38444809	9685086	52	12405											
CCDC157	550631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30766353	30766353	+	Silent	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr22:30766353C>A	ENST00000405659.1	+	5	1168	c.459C>A	c.(457-459)ccC>ccA	p.P153P	CCDC157_ENST00000338306.3_Silent_p.P153P			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	153								p.P102P(1)|p.P153P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CCTCCAAGCCCACCACCAAGG	0.567																																																2	Substitution - coding silent(2)	kidney(2)											137	148	145					22																	30766353		2203	4300	6503	SO:0001819	synonymous_variant	550631			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.459C>A	22.37:g.30766353C>A			Q0VD76|Q9BYA4	Silent	SNP	ENST00000405659.1	37	CCDS33632.2																																																																																				0.567	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		A	30766353	C	A	30766353	2	1	202	1	0	0	0	0	0	0	0	1	2791	581	21	4		4	CCDC157	22	30766353	Silent	SNP	C	TCGA-B0-5120-01A-01D-1421-08		30766353	20538213	53	12406											
SMCR7L	54471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	39908345	39908345	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr22:39908345G>A	ENST00000325301.2	+	5	855	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	MIEF1_ENST00000402881.1_Missense_Mutation_p.R144Q|MIEF1_ENST00000404569.1_Missense_Mutation_p.R144Q	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	144	Dimerization.				mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)	p.R144Q(1)									ACTTACTACCGGAACCGGGCA	0.622																																																1	Substitution - Missense(1)	kidney(1)											45	46	46					22																	39908345		2203	4300	6503	SO:0001583	missense	54471			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.431G>A	22.37:g.39908345G>A	ENSP00000327124:p.Arg144Gln		Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369917	0.61624	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.11712	2.75;2.77;2.77	5.78	4.77	0.60923	.	0.175935	0.50627	D	0.000108	T	0.10078	0.0247	L	0.36672	1.1	0.45415	D	0.998399	B;B	0.18863	0.024;0.031	B;B	0.08055	0.002;0.003	T	0.11567	-1.0582	10	0.22706	T	0.39	-21.7363	14.9412	0.70994	0.0687:0.0:0.9313:0.0	.	144;144	Q9NQG6;B0QY95	MID51_HUMAN;.	Q	144	ENSP00000385110:R144Q;ENSP00000327124:R144Q;ENSP00000385191:R144Q	ENSP00000327124:R144Q	R	+	2	0	SMCR7L	38238291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.346000	0.79347	1.450000	0.47717	0.585000	0.79938	CGG		0.622	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		A	39908345	G	A	39908345	3	1	202	1	0	0	0	0	1	0	0	0	14797	1116	39	1	441	1	SMCR7L	22	39908345	Missense_Mutation	SNP	G	TCGA-B0-5120-01A-01D-1421-08	9141992	39908345	11396221	54	12407											
ALG12	79087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50303615	50303615	+	Silent	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr22:50303615C>T	ENST00000330817.6	-	5	864	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	197					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)	p.L197L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCCAAGGCCAGCAGCAGCA	0.612																																																1	Substitution - coding silent(1)	kidney(1)											67	66	66					22																	50303615		2203	4300	6503	SO:0001819	synonymous_variant	79087			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.591G>A	22.37:g.50303615C>T			A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Silent	SNP	ENST00000330817.6	37	CCDS14081.1																																																																																				0.612	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		T	50303615	C	T	50303615	2	4	202	1	0	0	0	0	0	0	0	1	514	581	21	2		2	ALG12	22	50303615	Silent	SNP	C	TCGA-B0-5120-01A-01D-1421-08	10395270	50303615	1000951	55	12408											
MAP3K15	389840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	19410163	19410163	+	Silent	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chrX:19410163C>T	ENST00000338883.4	-	18	2387	c.2388G>A	c.(2386-2388)tcG>tcA	p.S796S	MAP3K15_ENST00000359173.3_Silent_p.S231S|MAP3K15_ENST00000469203.2_Silent_p.S628S|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	796	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.S843S(1)|p.S271S(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAAGACGTTTCGAGGTTCCAA	0.488																																																2	Substitution - coding silent(2)	kidney(2)											80	76	77					X																	19410163		2203	4300	6503	SO:0001819	synonymous_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2388G>A	X.37:g.19410163C>T			A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37																																																																																					0.488	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		T	19410163	C	T	19410163	2	4	202	1	0	0	0	0	0	0	0	1	9251	871	31	1		1	MAP3K15	23	19410163	Silent	SNP	C	TCGA-B0-5120-01A-01D-1421-08		19410163	135860397	56	12409											
SUV39H1	6839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48557408	48557408	+	Silent	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chrX:48557408C>A	ENST00000376687.3	+	2	325	c.135C>A	c.(133-135)gtC>gtA	p.V45V	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Silent_p.V56V|SUV39H1_ENST00000453214.2_5'UTR	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	45	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Interaction with SIRT1.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.V45V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ACTTTGAAGTCGAGTACCTGT	0.557																																																1	Substitution - coding silent(1)	kidney(1)											86	68	74					X																	48557408		2203	4300	6503	SO:0001819	synonymous_variant	6839			AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"Chromatin-modifying enzymes / K-methyltransferases"	11479	protein-coding gene	gene with protein product		300254	"suppressor of variegation 3-9 (Drosophila) homolog 1"	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.135C>A	X.37:g.48557408C>A			B2R6E8|B4DST0|Q53G60|Q6FHK6	Silent	SNP	ENST00000376687.3	37	CCDS14304.1																																																																																				0.557	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		A	48557408	C	A	48557408	2	1	202	1	0	0	0	0	0	0	0	1	15417	871	31	4		4	SUV39H1	23	48557408	Silent	SNP	C	TCGA-B0-5120-01A-01D-1421-08	29147245	48557408	106713152	57	12410											
PFKFB1	5207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54982603	54982603	+	Silent	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chrX:54982603C>T	ENST00000375006.3	-	7	691	c.621G>A	c.(619-621)ttG>ttA	p.L207L	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.L142L	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	207	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.L207L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						gttcctcATCCAAGGGTTGGT	0.448																																																1	Substitution - coding silent(1)	kidney(1)											111	91	98					X																	54982603		2203	4300	6503	SO:0001819	synonymous_variant	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.621G>A	X.37:g.54982603C>T			B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	ENST00000375006.3	37	CCDS14364.1																																																																																				0.448	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			T	54982603	C	T	54982603	2	4	202	1	0	0	0	0	0	0	0	1	11762	593	21	2		2	PFKFB1	23	54982603	Silent	SNP	C	TCGA-B0-5120-01A-01D-1421-08	6425195	54982603	100287957	58	12411											
TEX11	56159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	69942475	69942475	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chrX:69942475G>A	ENST00000395889.2	-	14	1197	c.1042C>T	c.(1042-1044)Cat>Tat	p.H348Y	TEX11_ENST00000374320.2_Missense_Mutation_p.H23Y|TEX11_ENST00000374333.2_Missense_Mutation_p.H333Y|TEX11_ENST00000344304.3_Missense_Mutation_p.H348Y	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	348					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.H333Y(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TACCTTTCATGATCCATCAGC	0.403																																																1	Substitution - Missense(1)	kidney(1)											128	99	109					X																	69942475		2203	4300	6503	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1042C>T	X.37:g.69942475G>A	ENSP00000379226:p.His348Tyr		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	g	7.763	0.705846	0.15172	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.46063	1.37;1.38;0.88;1.38	3.98	-2.58	0.06228	.	0.477654	0.22238	N	0.062725	T	0.25606	0.0623	L	0.44542	1.39	0.09310	N	1	B;B	0.24651	0.089;0.108	B;B	0.26517	0.023;0.07	T	0.12268	-1.0554	9	.	.	.	-0.0263	3.3011	0.06983	0.4509:0.0:0.2157:0.3335	.	333;348	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	Y	333;348;23;348	ENSP00000363453:H333Y;ENSP00000379226:H348Y;ENSP00000363440:H23Y;ENSP00000340995:H348Y	.	H	-	1	0	TEX11	69859200	0.998000	0.40836	0.277000	0.24703	0.800000	0.45204	0.248000	0.18198	-0.636000	0.05524	0.509000	0.49947	CAT		0.403	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			A	69942475	G	A	69942475	3	1	202	1	0	0	0	0	1	0	0	0	15779	1290	45	2	1852	2	TEX11	23	69942475	Missense_Mutation	SNP	G	TCGA-B0-5120-01A-01D-1421-08	14959872	69942475	85328085	59	12412											
LRCH2	57631	broad.mit.edu	37	X	114400841	114400841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chrX:114400841C>A	ENST00000317135.8	-	7	1093	c.1063G>T	c.(1063-1065)Gag>Tag	p.E355*	LRCH2_ENST00000538422.1_Nonsense_Mutation_p.E355*	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	355								p.E355*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AATCGTTTCTCTCCATTATCA	0.338																																																2	Substitution - Nonsense(2)	kidney(2)											57	51	53					X																	114400841		1815	4057	5872	SO:0001587	stop_gained	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1063G>T	X.37:g.114400841C>A	ENSP00000325091:p.Glu355*		F5H2T1|Q08AD5|Q9HA88|Q9P233	Nonsense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	C	37	6.232991	0.97399	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	.	.	.	4.94	4.94	0.65067	.	0.058748	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.7265	16.0096	0.80391	0.0:1.0:0.0:0.0	.	.	.	.	X	355	.	ENSP00000325091:E355X	E	-	1	0	LRCH2	114307097	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.256000	0.78350	2.166000	0.68216	0.415000	0.27848	GAG		0.338	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		A	114400841	C	A	114400841	4	1	202	1	0	0	0	0	0	1	0	0	8935	922	32	4	1294	4	LRCH2	23	114400841	Nonsense_Mutation	SNP	C	TCGA-B0-5120-01A-01D-1421-08	44458366	114400841	40869719	60	12413											
KIAA0467	81888	broad.mit.edu;hgsc.bcm.edu	37	1	43914130	43914130	+	IGR	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:43914130C>A	ENST00000372425.4	-	0	1115				SZT2_ENST00000562955.1_Missense_Mutation_p.S3258Y|SZT2_ENST00000372442.1_Missense_Mutation_p.S2416Y|SZT2-AS1_ENST00000396885.2_RNA			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)								hydroxypyruvate isomerase activity (GO:0008903)	p.S2416Y(2)|p.S3258Y(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGCCAAATCCATTGGGGAC	0.627																																																3	Substitution - Missense(3)	kidney(3)											20	23	22					1																	43914130		2203	4299	6502	SO:0001628	intergenic_variant	0				CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"hydroxypyruvate isomerase homolog (E. coli)"			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502		1.37:g.43914130C>A			D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625500	0.46840	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.66	4.75	0.60458	.	0.160340	0.56097	D	0.000021	T	0.53753	0.1816	L	0.43152	1.355	0.26427	N	0.975997	D;D	0.89917	0.998;1.0	P;D	0.91635	0.902;0.999	T	0.46638	-0.9177	9	0.56958	D	0.05	.	10.3368	0.43854	0.0:0.7947:0.1343:0.071	.	3315;3258	Q5T011;Q5T011-5	SZT2_HUMAN;.	Y	2416	.	ENSP00000361519:S2416Y	S	+	2	0	SZT2	43686717	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.829000	0.69316	1.394000	0.46624	-0.150000	0.13652	TCC		0.627	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		A	43914130	C	A	43914130	1	1	203	0	1	0	0	0	0	0	0	0	8180	855	30	4		4	KIAA0467	1	43914130	IGR	SNP	C	TCGA-B0-5121-01A-02D-1421-08		43914130	205336491	1	12414											
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62550236	62550236	+	Silent	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:62550236C>T	ENST00000371158.2	+	33	4407	c.4293C>T	c.(4291-4293)gtC>gtT	p.V1431V	INADL_ENST00000316485.6_Silent_p.V1431V|INADL_ENST00000543708.1_Silent_p.V215V|INADL_ENST00000545929.1_Silent_p.V104V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1431					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.V1431V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTCCCATTGTCCCTGGACAGG	0.488																																																1	Substitution - coding silent(1)	kidney(1)											93	88	90					1																	62550236		2203	4300	6503	SO:0001819	synonymous_variant	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4293C>T	1.37:g.62550236C>T			O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				0.488	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		T	62550236	C	T	62550236	2	4	203	1	0	0	0	0	0	0	0	1	7733	842	30	2		2	INADL	1	62550236	Silent	SNP	C	TCGA-B0-5121-01A-02D-1421-08	18636106	62550236	186700385	2	12415											
GPR89B	51463	hgsc.bcm.edu	37	1	147415632	147415632	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:147415632delA	ENST00000314163.7	+	4	431	c.287delA	c.(286-288)tatfs	p.Y96fs		NM_016334.3	NP_057418.1	P0CG08	GPHRB_HUMAN	G protein-coupled receptor 89B	96					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	voltage-gated ion channel activity (GO:0005244)			large_intestine(1)	1	all_hematologic(923;0.0276)					TACATTGGCTATTTTATTGTG	0.378																																																0													74	87	82					1																	147415632		2201	4296	6497	SO:0001589	frameshift_variant	51463			U78723	CCDS930.1	1q21.1	2014-06-19	2007-06-06	2007-06-06	ENSG00000188092	ENSG00000188092			13840	protein-coding gene	gene with protein product		612806	"G protein-coupled receptor 89", "G protein-coupled receptor 89C"	GPR89, GPR89C		11042152	Standard	NM_016334		Approved	SH120	uc001epv.4	P0CG08	OTTHUMG00000013452	ENST00000314163.7:c.287delA	1.37:g.147415632delA	ENSP00000358233:p.Tyr96fs		A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Frame_Shift_Del	DEL	ENST00000314163.7	37	CCDS930.1																																																																																				0.378	GPR89B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037481.2	NM_016334		-	147415632	A	-	147415632	7	5	203	1	0	1	0	1	0	0	0	0	6721	449	16	0	301	0	GPR89B	1	147415632	Frame_Shift_Del	DEL	A	TCGA-B0-5121-01A-02D-1421-08	84865396	147415632	101834989	3	12416											
C1orf25	81627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	185109279	185109279	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:185109279G>C	ENST00000367506.5	-	8	1203	c.935C>G	c.(934-936)tCt>tGt	p.S312C	TRMT1L_ENST00000367504.3_Missense_Mutation_p.S156C	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	312	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.S312C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						CAGTGTCACAGAATTTTCATT	0.363																																																1	Substitution - Missense(1)	kidney(1)											91	88	89					1																	185109279		2203	4299	6502	SO:0001583	missense	0			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.935C>G	1.37:g.185109279G>C	ENSP00000356476:p.Ser312Cys		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637226	0.47049	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	6.08	6.08	0.98989	.	0.047815	0.85682	D	0.000000	T	0.52451	0.1735	N	0.16656	0.425	0.54753	D	0.999983	B	0.23316	0.083	B	0.23574	0.047	T	0.47873	-0.9083	9	0.59425	D	0.04	-20.2839	20.6721	0.99693	0.0:0.0:1.0:0.0	.	312	Q7Z2T5	TRM1L_HUMAN	C	156;312	.	ENSP00000356474:S156C	S	-	2	0	TRMT1L	183375902	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.568000	0.67385	2.894000	0.99253	0.591000	0.81541	TCT		0.363	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		C	185109279	G	C	185109279	3	2	203	1	0	0	0	0	1	0	0	0	2036	942	33	4	1298	4	C1orf25	1	185109279	Missense_Mutation	SNP	G	TCGA-B0-5121-01A-02D-1421-08	37693647	185109279	64141342	4	12417											
SLC41A1	254428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205767800	205767800	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:205767800G>T	ENST00000367137.3	-	6	1855	c.841C>A	c.(841-843)Ctg>Atg	p.L281M	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	281					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.L281M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GGCTCACTCAGTTCCAGGTAG	0.547																																																1	Substitution - Missense(1)	kidney(1)											85	87	86					1																	205767800		2203	4300	6503	SO:0001583	missense	254428			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.841C>A	1.37:g.205767800G>T	ENSP00000356105:p.Leu281Met		Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553668	0.65425	.	.	ENSG00000133065	ENST00000367137	T	0.35048	1.33	5.88	3.98	0.46160	.	0.575678	0.19089	N	0.123027	T	0.32194	0.0821	L	0.61387	1.9	0.43885	D	0.996509	B	0.30793	0.295	B	0.33521	0.165	T	0.06499	-1.0823	10	0.22706	T	0.39	.	5.1406	0.14957	0.0695:0.1299:0.5318:0.2689	.	281	Q8IVJ1	S41A1_HUMAN	M	281	ENSP00000356105:L281M	ENSP00000356105:L281M	L	-	1	2	SLC41A1	204034423	1.000000	0.71417	0.940000	0.37924	0.998000	0.95712	1.738000	0.38207	0.801000	0.34066	0.655000	0.94253	CTG		0.547	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			T	205767800	G	T	205767800	3	4	203	1	0	0	0	0	1	0	0	0	14635	1020	36	4	724	4	SLC41A1	1	205767800	Missense_Mutation	SNP	G	TCGA-B0-5121-01A-02D-1421-08	20658521	205767800	43482821	5	12418											
ZNF692	55657	hgsc.bcm.edu;ucsc.edu	37	1	249150756	249150764	+	Splice_Site	DEL	CCAAATCTG	CCAAATCTG	-			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	CCAAATCTG	CCAAATCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr1:249150756_249150764delCCAAATCTG	ENST00000306601.4	-	5	642_647	c.476_481delCAGATTTGG	c.(475-483)gcagatttg>gtg	p.159_161ADL>V	ZNF692_ENST00000427146.1_Splice_Site_p.159_161ADL>V|ZNF692_ENST00000366471.3_Splice_Site_p.159_161ADL>V|ZNF692_ENST00000366469.5_Splice_Site_p.159_161ADL>V|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000451251.1_Splice_Site_p.164_166ADL>V|ZNF692_ENST00000468455.1_5'UTR	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TGCTCAGATTCCAAATCTGTGGGACAGGC	0.478																																																0																																										SO:0001630	splice_region_variant	55657			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.476-1CAGATTTGG>-	1.37:g.249150756_249150764delCCAAATCTG			B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Frame_Shift_Del	DEL	ENST00000306601.4	37	CCDS31127.1																																																																																				0.478	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865	In_Frame_Del	-	249150764	CCAAATCTG	-	249150756	8	5	203	1	0	1	0	1	0	0	1	0	18102	864	30	0	1110	0	ZNF692	1	249150756	Splice_Site	DEL	CCAAATCTG	TCGA-B0-5121-01A-02D-1421-08	43382956	249150756	99865	6	12419											
MYT1L	23040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1983506	1983506	+	Missense_Mutation	SNP	T	T	C	rs370776058		TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr2:1983506T>C	ENST00000399161.2	-	6	791	c.44A>G	c.(43-45)aAa>aGa	p.K15R	MYT1L_ENST00000428368.2_Missense_Mutation_p.K15R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	15					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K15R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCGAACCCCTTTGGACCGCGT	0.597																																																1	Substitution - Missense(1)	kidney(1)						T	ARG/LYS	1,4017		0,1,2008	50	58	55		44	5.1	1	2		55	0,8348		0,0,4174	no	missense	MYT1L	NM_015025.2	26	0,1,6182	CC,CT,TT		0.0,0.0249,0.0081	probably-damaging	15/1185	1983506	1,12365	2009	4174	6183	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.44A>G	2.37:g.1983506T>C	ENSP00000382114:p.Lys15Arg		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	T	18.69	3.677105	0.68042	2.49E-4	0.0	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.61859	0.07;0.07	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.49126	1.545	0.52099	D	0.999943	P;D	0.56035	0.956;0.974	P;D	0.67725	0.899;0.953	T	0.69514	-0.5125	10	0.44086	T	0.13	-36.6878	15.192	0.73053	0.0:0.0:0.0:1.0	.	15;15	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	R	15	ENSP00000382114:K15R;ENSP00000396103:K15R	ENSP00000295067:K15R	K	-	2	0	MYT1L	1962513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.795000	0.75140	2.054000	0.61138	0.482000	0.46254	AAA		0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		C	1983506	T	C	1983506	3	2	203	1	0	0	0	0	1	0	0	0	10109	1841	64	3	3590	3	MYT1L	2	1983506	Missense_Mutation	SNP	T	TCGA-B0-5121-01A-02D-1421-08		1983506	241215867	7	12420											
TSPYL6	388951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	54482422	54482422	+	Missense_Mutation	SNP	C	C	A	rs200743394		TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr2:54482422C>A	ENST00000317802.7	-	1	987	c.867G>T	c.(865-867)agG>agT	p.R289S	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	289					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.R289S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGCAGCCTGTCCTAGGGTGTC	0.468																																																1	Substitution - Missense(1)	kidney(1)											105	101	102					2																	54482422		2109	4266	6375	SO:0001583	missense	388951			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.867G>T	2.37:g.54482422C>A	ENSP00000417919:p.Arg289Ser		Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354265	0.41700	.	.	ENSG00000178021	ENST00000317802	T	0.24908	1.83	1.67	0.737	0.18314	.	.	.	.	.	T	0.38427	0.1040	L	0.54863	1.705	0.28391	N	0.919099	D	0.55800	0.973	P	0.62885	0.908	T	0.19095	-1.0316	9	0.54805	T	0.06	.	7.7878	0.29101	0.0:0.7374:0.2626:0.0	.	289	Q8N831	TSYL6_HUMAN	S	289	ENSP00000417919:R289S	ENSP00000417919:R289S	R	-	3	2	TSPYL6	54335926	0.201000	0.23410	0.142000	0.22268	0.284000	0.27059	0.167000	0.16602	0.250000	0.21479	0.467000	0.42956	AGG		0.468	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		A	54482422	C	A	54482422	3	1	203	1	0	0	0	0	1	0	0	0	16668	854	30	4	369	4	TSPYL6	2	54482422	Missense_Mutation	SNP	C	TCGA-B0-5121-01A-02D-1421-08	52498916	54482422	188716951	8	12421											
PCGF1	84759	broad.mit.edu	37	2	74732306	74732306	+	Silent	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr2:74732306C>T	ENST00000233630.6	-	9	1655	c.744G>A	c.(742-744)ttG>ttA	p.L248L	LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000341396.2_5'Flank|RP11-523H20.3_ENST00000606287.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|PCGF1_ENST00000480844.2_5'UTR|LBX2_ENST00000460508.3_5'Flank|LBX2_ENST00000550249.1_5'Flank	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	248	Sufficient for interaction with BCOR and BCORL1.				histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.L236L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						ATTGTAAAAGCAAAGGGGATG	0.507																																																1	Substitution - coding silent(1)	kidney(1)											36	38	37					2																	74732306		2202	4300	6502	SO:0001819	synonymous_variant	84759			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.744G>A	2.37:g.74732306C>T			Q7Z506	Silent	SNP	ENST00000233630.6	37	CCDS1946.2																																																																																				0.507	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		T	74732306	C	T	74732306	2	4	203	1	0	0	0	0	0	0	0	1	11576	709	25	2		2	PCGF1	2	74732306	Silent	SNP	C	TCGA-B0-5121-01A-02D-1421-08	20249884	74732306	168467067	9	12422											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47162787	47162787	+	Nonsense_Mutation	SNP	A	A	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr3:47162787A>C	ENST00000409792.3	-	3	3381	c.3339T>G	c.(3337-3339)taT>taG	p.Y1113*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1113					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.Y610*(1)|p.Y1113*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATTTTTCCTCATACAAATGTC	0.373			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											125	130	129					3																	47162787		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3339T>G	3.37:g.47162787A>C	ENSP00000386759:p.Tyr1113*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	36	5.905111	0.97087	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.31	1.7	0.24286	.	0.000000	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9622	0.35854	0.7903:0.0:0.2097:0.0	.	.	.	.	X	1113;1113;1113;1069	.	.	Y	-	3	2	SETD2	47137791	0.999000	0.42202	0.986000	0.45419	0.537000	0.34900	0.581000	0.23819	0.150000	0.19136	-0.290000	0.09829	TAT		0.373	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		C	47162787	A	C	47162787	4	2	203	1	0	0	0	0	0	1	0	0	14137	224	8	5	4431	5	SETD2	3	47162787	Nonsense_Mutation	SNP	A	TCGA-B0-5121-01A-02D-1421-08		47162787	150859643	10	12423											
GMPPB	29925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49760159	49760159	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr3:49760159T>C	ENST00000480687.1	-	6	547	c.431A>G	c.(430-432)tAc>tGc	p.Y144C	GMPPB_ENST00000308375.6_Missense_Mutation_p.Y144C|GMPPB_ENST00000308388.6_Missense_Mutation_p.Y144C|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	144					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)	p.Y144C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACCACACCGTACTTGGAGGG	0.542																																																1	Substitution - Missense(1)	kidney(1)											67	63	65					3																	49760159		2203	4300	6503	SO:0001583	missense	29925			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.431A>G	3.37:g.49760159T>C	ENSP00000418565:p.Tyr144Cys		A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839717	0.71488	.	.	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	D;D;D	0.83163	-1.69;-1.69;-1.69	4.58	4.58	0.56647	Nucleotidyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.93726	0.7995	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95403	0.8491	10	0.87932	D	0	-13.9892	13.2707	0.60159	0.0:0.0:0.0:1.0	.	144;144	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	C	144	ENSP00000418565:Y144C;ENSP00000309092:Y144C;ENSP00000311130:Y144C	ENSP00000309092:Y144C	Y	-	2	0	GMPPB	49735163	1.000000	0.71417	0.906000	0.35671	0.983000	0.72400	7.760000	0.85248	1.922000	0.55676	0.379000	0.24179	TAC		0.542	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		C	49760159	T	C	49760159	3	2	203	1	0	0	0	0	1	0	0	0	6497	1638	57	3	748	3	GMPPB	3	49760159	Missense_Mutation	SNP	T	TCGA-B0-5121-01A-02D-1421-08	2597372	49760159	148262271	11	12424											
GPR171	29909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	150917098	150917098	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr3:150917098G>A	ENST00000309180.5	-	3	306	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	26					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L26F(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCAACAAGGAAAACTAAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											48	51	50					3																	150917098		2203	4300	6503	SO:0001583	missense	29909			AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"GPCR / Class A : Orphans"	30057	protein-coding gene	gene with protein product	"platelet activating receptor homolog"					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.76C>T	3.37:g.150917098G>A	ENSP00000308479:p.Leu26Phe		D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359129	0.61403	.	.	ENSG00000174946	ENST00000309180	T	0.44083	0.93	5.54	5.54	0.83059	.	0.232438	0.34959	N	0.003548	T	0.23727	0.0574	N	0.08118	0	0.40153	D	0.976977	P	0.49253	0.921	B	0.38880	0.284	T	0.11203	-1.0597	10	0.44086	T	0.13	-18.0661	14.354	0.66724	0.0:0.0:0.852:0.148	.	26	O14626	GP171_HUMAN	F	26	ENSP00000308479:L26F	ENSP00000308479:L26F	L	-	1	0	GPR171	152399788	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	5.108000	0.64609	2.607000	0.88179	0.655000	0.94253	CTT		0.368	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		A	150917098	G	A	150917098	3	1	203	1	0	0	0	0	1	0	0	0	6670	1000	35	2	887	2	GPR171	3	150917098	Missense_Mutation	SNP	G	TCGA-B0-5121-01A-02D-1421-08	101156939	150917098	47105332	12	12425											
LRRC66	339977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	52861345	52861345	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr4:52861345C>A	ENST00000343457.3	-	4	1849	c.1843G>T	c.(1843-1845)Gac>Tac	p.D615Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	615						integral component of membrane (GO:0016021)		p.D615Y(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATCTGCGAGTCCCAAAGTGAC	0.493																																																1	Substitution - Missense(1)	kidney(1)											72	71	72					4																	52861345		1946	4165	6111	SO:0001583	missense	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1843G>T	4.37:g.52861345C>A	ENSP00000341944:p.Asp615Tyr			Missense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534118	0.27475	.	.	ENSG00000188993	ENST00000343457	T	0.30182	1.54	4.39	3.54	0.40534	.	2.861360	0.01189	N	0.007267	T	0.31263	0.0791	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.47674	-0.9099	10	0.72032	D	0.01	1.274	9.7975	0.40744	0.0:0.8979:0.0:0.1021	.	615	Q68CR7	LRC66_HUMAN	Y	615	ENSP00000341944:D615Y	ENSP00000341944:D615Y	D	-	1	0	LRRC66	52556102	0.000000	0.05858	0.004000	0.12327	0.018000	0.09664	-0.135000	0.10420	2.438000	0.82558	0.591000	0.81541	GAC		0.493	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		A	52861345	C	A	52861345	3	1	203	1	0	0	0	0	1	0	0	0	9020	855	30	4	803	4	LRRC66	4	52861345	Missense_Mutation	SNP	C	TCGA-B0-5121-01A-02D-1421-08		52861345	138292931	13	12426											
PDGFRA	5156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	55156689	55156690	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr4:55156689_55156690GG>TT	ENST00000257290.5	+	22	3421_3422	c.3090_3091GG>TT	c.(3088-3093)gaGGag>gaTTag	p.1030_1031EE>D*	FIP1L1_ENST00000507166.1_Nonsense_Mutation_p.790_791EE>D*	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1030					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E1030D(1)|p.E1030>?(1)|p.E1031*(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTGTCCCTGAGGAGGAGGACCT	0.584			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex(1)	kidney(3)																																								SO:0001587	stop_gained	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	Exception_encountered	4.37:g.55156689_55156690delinsTT	ENSP00000257290:p.E1030_E1031delinsD*		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1																																																																																				0.584	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		TT	55156690	GG	TT	55156689	4	4	203	1	0	0	0	0	0	1	0	0	11663	991	35	4	3172	4	PDGFRA	4	55156689	Nonsense_Mutation	DNP	GG	TCGA-B0-5121-01A-02D-1421-08	2295344	55156689	135997587	14	12427											
ACSL6	23305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131289980	131289980	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr5:131289980G>T	ENST00000379240.1	-	21	2194	c.2041C>A	c.(2041-2043)Ctg>Atg	p.L681M	AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379264.2_Missense_Mutation_p.L706M|ACSL6_ENST00000379272.2_Missense_Mutation_p.L696M|ACSL6_ENST00000357096.1_Missense_Mutation_p.L606M|ACSL6_ENST00000296869.4_Missense_Mutation_p.L706M|ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000379255.1_Missense_Mutation_p.L606M|ACSL6_ENST00000431707.1_Missense_Mutation_p.L661M|ACSL6_ENST00000379246.1_Missense_Mutation_p.L692M|ACSL6_ENST00000544770.1_Missense_Mutation_p.L590M|ACSL6_ENST00000379244.1_Missense_Mutation_p.L681M|ACSL6_ENST00000543479.1_Missense_Mutation_p.L681M			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	681					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.L706M(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACTCTCTCAGCTCAGGTCTC	0.373																																																2	Substitution - Missense(2)	kidney(2)											113	99	103					5																	131289980		2203	4300	6503	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.2041C>A	5.37:g.131289980G>T	ENSP00000368542:p.Leu681Met		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.105319	0.77096	.	.	ENSG00000164398	ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	M	0.84326	2.69	0.80722	D	1	P;P;P;P;P;P;P	0.49862	0.929;0.919;0.868;0.883;0.799;0.919;0.919	P;P;B;P;P;P;P	0.51385	0.668;0.615;0.411;0.468;0.477;0.615;0.615	T	0.52668	-0.8545	10	0.56958	D	0.05	.	19.561	0.95373	0.0:0.0:1.0:0.0	.	681;696;671;681;606;706;706	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	M	706;696;606;606;706;692;681;590;681;661;681	ENSP00000368566:L706M;ENSP00000368574:L696M;ENSP00000349608:L606M;ENSP00000368557:L606M;ENSP00000296869:L706M;ENSP00000368548:L692M;ENSP00000368546:L681M;ENSP00000445154:L590M;ENSP00000368542:L681M;ENSP00000413329:L661M;ENSP00000442124:L681M	ENSP00000296869:L706M	L	-	1	2	ACSL6	131317879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.587000	0.67510	2.696000	0.92011	0.655000	0.94253	CTG		0.373	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		T	131289980	G	T	131289980	3	4	203	1	0	0	0	0	1	0	0	0	181	962	34	4	56	4	ACSL6	5	131289980	Missense_Mutation	SNP	G	TCGA-B0-5121-01A-02D-1421-08		131289980	49625280	15	12428											
ZNF184	7738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27420988	27420988	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr6:27420988G>A	ENST00000211936.6	-	6	634	c.350C>T	c.(349-351)tCt>tTt	p.S117F	ZNF184_ENST00000377419.1_Missense_Mutation_p.S117F	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S117F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTCTTCTTCAGAAATGTCAGG	0.373																																																2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)											67	71	70					6																	27420988		2203	4300	6503	SO:0001583	missense	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.350C>T	6.37:g.27420988G>A	ENSP00000211936:p.Ser117Phe		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506904	0.26949	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07908	3.15;3.15	5.33	5.33	0.75918	.	0.594916	0.15330	N	0.268090	T	0.02156	0.0067	L	0.28344	0.845	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38156	-0.9674	10	0.09590	T	0.72	.	14.3911	0.66978	0.0:0.0:1.0:0.0	.	117	Q99676	ZN184_HUMAN	F	117	ENSP00000211936:S117F;ENSP00000366636:S117F	ENSP00000211936:S117F	S	-	2	0	ZNF184	27528967	0.688000	0.27680	0.309000	0.25155	0.930000	0.56654	2.157000	0.42320	2.771000	0.95319	0.561000	0.74099	TCT		0.373	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		A	27420988	G	A	27420988	3	1	203	1	0	0	0	0	1	0	0	0	17756	942	33	2	1909	2	ZNF184	6	27420988	Missense_Mutation	SNP	G	TCGA-B0-5121-01A-02D-1421-08		27420988	143694079	16	12429											
TTBK1	84630	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43230690	43230690	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr6:43230690G>T	ENST00000259750.4	+	13	1671	c.1588G>T	c.(1588-1590)Gtg>Ttg	p.V530L	TTBK1_ENST00000304139.5_Missense_Mutation_p.V479L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	530					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V530L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTTCCGCTCGGTGCCGCTGGC	0.637																																																1	Substitution - Missense(1)	kidney(1)											77	58	64					6																	43230690		2203	4300	6503	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1588G>T	6.37:g.43230690G>T	ENSP00000259750:p.Val530Leu		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977953	0.92982	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.67865	-0.29	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.40543	1.245	0.49483	D	0.999794	D;D	0.64830	0.99;0.994	D;D	0.73380	0.98;0.97	T	0.70824	-0.4767	10	0.49607	T	0.09	.	16.0488	0.80740	0.0:0.0:1.0:0.0	.	53;530	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	L	479;530;479	ENSP00000259750:V530L	ENSP00000259750:V530L	V	+	1	0	TTBK1	43338668	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	9.496000	0.97967	2.532000	0.85374	0.484000	0.47621	GTG		0.637	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			T	43230690	G	T	43230690	3	4	203	1	0	0	0	0	1	0	0	0	16681	1261	44	4	1634	4	TTBK1	6	43230690	Missense_Mutation	SNP	G	TCGA-B0-5121-01A-02D-1421-08	15809702	43230690	127884377	17	12430											
TAAR6	319100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132892288	132892288	+	Silent	SNP	T	T	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr6:132892288T>A	ENST00000275198.1	+	1	828	c.828T>A	c.(826-828)atT>atA	p.I276I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	276					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.I276I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CATATAGCATTGATTCATTAA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											132	128	129					6																	132892288		2203	4300	6503	SO:0001819	synonymous_variant	319100			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.828T>A	6.37:g.132892288T>A			Q5VUQ4	Silent	SNP	ENST00000275198.1	37	CCDS5155.1																																																																																				0.408	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		A	132892288	T	A	132892288	2	1	203	1	0	0	0	0	0	0	0	1	15497	1800	63	5		5	TAAR6	6	132892288	Silent	SNP	T	TCGA-B0-5121-01A-02D-1421-08	89661598	132892288	38222779	18	12431											
COL28A1	340267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	7398296	7398296	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr7:7398296T>G	ENST00000399429.3	-	35	3486	c.3346A>C	c.(3346-3348)Aag>Cag	p.K1116Q		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1116	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K1116Q(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGACATTCCTTTTCACTGTTG	0.398																																																1	Substitution - Missense(1)	kidney(1)											186	171	176					7																	7398296		1918	4139	6057	SO:0001583	missense	340267			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.3346A>C	7.37:g.7398296T>G	ENSP00000382356:p.Lys1116Gln		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	T	6.677	0.493491	0.12702	.	.	ENSG00000215018	ENST00000453441;ENST00000399429	T;T	0.56103	0.48;0.48	4.84	3.61	0.41365	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.589898	0.14307	U	0.327925	T	0.32971	0.0847	L	0.28274	0.84	0.27250	N	0.958909	B	0.12013	0.005	B	0.09377	0.004	T	0.06481	-1.0824	10	0.31617	T	0.26	-1.3269	3.0425	0.06142	0.14:0.0823:0.145:0.6327	.	1116	Q2UY09	COSA1_HUMAN	Q	71;1116	ENSP00000391380:K71Q;ENSP00000382356:K1116Q	ENSP00000382356:K1116Q	K	-	1	0	COL28A1	7364821	0.270000	0.24152	1.000000	0.80357	0.068000	0.16541	0.425000	0.21346	2.182000	0.69389	0.529000	0.55759	AAG		0.398	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		G	7398296	T	G	7398296	3	3	203	1	0	0	0	0	1	0	0	0	3688	1850	64	5	35	5	COL28A1	7	7398296	Missense_Mutation	SNP	T	TCGA-B0-5121-01A-02D-1421-08		7398296	151740367	19	12432											
IGF2BP3	10643	broad.mit.edu;hgsc.bcm.edu	37	7	23508130	23508130	+	Missense_Mutation	SNP	T	T	A	rs372260584		TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr7:23508130T>A	ENST00000258729.3	-	2	563	c.207A>T	c.(205-207)gaA>gaT	p.E69D	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	69	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.E69D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGTGCTCAACTTCTATGGGTT	0.547																																																1	Substitution - Missense(1)	kidney(1)											253	237	242					7																	23508130		2203	4300	6503	SO:0001583	missense	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.207A>T	7.37:g.23508130T>A	ENSP00000258729:p.Glu69Asp		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	T	32	5.172211	0.94807	.	.	ENSG00000136231	ENST00000258729	T	0.09255	3.0	5.3	4.13	0.48395	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	M	0.62723	1.935	0.58432	D	0.999999	D	0.60575	0.988	D	0.63113	0.911	T	0.00589	-1.1656	10	0.40728	T	0.16	-6.8042	11.6989	0.51558	0.0:0.0729:0.0:0.927	.	69	O00425	IF2B3_HUMAN	D	69	ENSP00000258729:E69D	ENSP00000258729:E69D	E	-	3	2	IGF2BP3	23474655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.716000	0.47219	2.123000	0.65237	0.528000	0.53228	GAA		0.547	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		A	23508130	T	A	23508130	3	1	203	1	0	0	0	0	1	0	0	0	7577	1606	56	5	1588	5	IGF2BP3	7	23508130	Missense_Mutation	SNP	T	TCGA-B0-5121-01A-02D-1421-08	16109834	23508130	135630533	20	12433											
FOXP2	93986	broad.mit.edu	37	7	114269991	114269991	+	Silent	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr7:114269991G>A	ENST00000393494.2	+	5	807	c.528G>A	c.(526-528)caG>caA	p.Q176Q	FOXP2_ENST00000390668.3_Silent_p.Q200Q|FOXP2_ENST00000378237.3_Silent_p.Q176Q|FOXP2_ENST00000393500.3_Silent_p.Q101Q|FOXP2_ENST00000393498.2_Silent_p.Q156Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q176Q|FOXP2_ENST00000393489.3_Silent_p.Q84Q|FOXP2_ENST00000408937.3_Silent_p.Q201Q|FOXP2_ENST00000360232.4_Silent_p.Q176Q|FOXP2_ENST00000403559.4_Silent_p.Q193Q|FOXP2_ENST00000393491.3_Silent_p.Q84Q			O15409	FOXP2_HUMAN	forkhead box P2	176	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q201Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacaacagcagcaacaacagc	0.498																																																1	Substitution - coding silent(1)	kidney(1)											39	37	38					7																	114269991		2199	4286	6485	SO:0001819	synonymous_variant	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.528G>A	7.37:g.114269991G>A			A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		A	114269991	G	A	114269991	2	1	203	1	0	0	0	0	0	0	0	1	6029	962	34	2		2	FOXP2	7	114269991	Silent	SNP	G	TCGA-B0-5121-01A-02D-1421-08	90761861	114269991	44868672	21	12434											
NUP205	23165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	135277919	135277919	+	Silent	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr7:135277919C>A	ENST00000285968.6	+	12	1835	c.1809C>A	c.(1807-1809)ctC>ctA	p.L603L	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	603					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.L603L(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTTGCAGCTCACGTCTACCA	0.423																																																1	Substitution - coding silent(1)	kidney(1)											155	140	145					7																	135277919		2203	4300	6503	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1809C>A	7.37:g.135277919C>A			A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	CCDS34759.1																																																																																				0.423	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			A	135277919	C	A	135277919	2	1	203	1	0	0	0	0	0	0	0	1	10761	813	29	4		4	NUP205	7	135277919	Silent	SNP	C	TCGA-B0-5121-01A-02D-1421-08	21007928	135277919	23860744	22	12435											
IKBKAP	8518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	111640376	111640376	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr9:111640376C>T	ENST00000374647.5	-	35	4061	c.3754G>A	c.(3754-3756)Gga>Aga	p.G1252R	IKBKAP_ENST00000537196.1_Missense_Mutation_p.G903R|IKBKAP_ENST00000467959.1_5'Flank	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1252					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.G1252*(1)|p.G1252R(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AATTCCCTTCCTTGTTCATCA	0.393																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(1)|kidney(1)											94	92	92					9																	111640376		2203	4300	6503	SO:0001583	missense	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3754G>A	9.37:g.111640376C>T	ENSP00000363779:p.Gly1252Arg		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483129	0.84747	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.26957	2.08;1.7	5.53	5.53	0.82687	.	0.292734	0.33382	N	0.004966	T	0.25269	0.0614	L	0.40543	1.245	0.36889	D	0.889776	P	0.35923	0.528	B	0.34779	0.189	T	0.17684	-1.0361	10	0.87932	D	0	-10.5692	17.0018	0.86383	0.0:1.0:0.0:0.0	.	1252	O95163	ELP1_HUMAN	R	1252;903	ENSP00000363779:G1252R;ENSP00000439367:G903R	ENSP00000363779:G1252R	G	-	1	0	IKBKAP	110680197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.669000	0.68081	2.876000	0.98609	0.643000	0.83706	GGA		0.393	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			T	111640376	C	T	111640376	3	4	203	1	0	0	0	0	1	0	0	0	7612	690	24	2	256	2	IKBKAP	9	111640376	Missense_Mutation	SNP	C	TCGA-B0-5121-01A-02D-1421-08		111640376	29573055	23	12436											
CEP110	11064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123917154	123917154	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr9:123917154C>A	ENST00000373855.1	+	27	4588	c.4328C>A	c.(4327-4329)gCa>gAa	p.A1443E	CNTRL_ENST00000373844.1_5'Flank|CNTRL_ENST00000373850.1_Missense_Mutation_p.A891E|CNTRL_ENST00000373847.1_Missense_Mutation_p.A891E|CNTRL_ENST00000238341.5_Missense_Mutation_p.A1443E|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1443					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.A1443E(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CGACTCCTGGCAGAGGCTGAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											190	174	179					9																	123917154		2203	4300	6503	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4328C>A	9.37:g.123917154C>A	ENSP00000362962:p.Ala1443Glu		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532879	0.85812	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;T	0.75589	0.98;0.98;0.98;0.98;-0.95	5.58	4.66	0.58398	.	.	.	.	.	T	0.70954	0.3283	L	0.55481	1.735	0.43321	D	0.995343	P	0.52577	0.954	P	0.47981	0.563	T	0.70644	-0.4815	9	0.02654	T	1	.	15.0791	0.72099	0.1428:0.8572:0.0:0.0	.	1443	Q7Z7A1	CNTRL_HUMAN	E	1443;1443;1443;199;891;891;112;112	ENSP00000362962:A1443E;ENSP00000238341:A1443E;ENSP00000362956:A891E;ENSP00000362953:A891E;ENSP00000413014:A112E	ENSP00000238341:A1443E	A	+	2	0	CNTRL	122956975	0.998000	0.40836	0.988000	0.46212	0.972000	0.66771	4.360000	0.59455	1.436000	0.47453	0.655000	0.94253	GCA		0.468	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		A	123917154	C	A	123917154	3	1	203	1	0	0	0	0	1	0	0	0	3247	710	25	4	4426	4	CEP110	9	123917154	Missense_Mutation	SNP	C	TCGA-B0-5121-01A-02D-1421-08	12276778	123917154	17296277	24	12437											
CARD9	64170	broad.mit.edu;ucsc.edu	37	9	139262211	139262211	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr9:139262211T>G	ENST00000371732.5	-	8	1312	c.1147A>C	c.(1147-1149)Aag>Cag	p.K383Q	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Missense_Mutation_p.K383Q	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	383					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)	p.K383Q(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CGCACCTGCTTGCGCAGCGCG	0.692																																																1	Substitution - Missense(1)	kidney(1)											38	33	35					9																	139262211		2196	4290	6486	SO:0001583	missense	64170			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1147A>C	9.37:g.139262211T>G	ENSP00000360797:p.Lys383Gln		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562523	0.45694	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.35973	1.28;1.28	3.85	3.85	0.44370	.	0.080216	0.48286	D	0.000181	T	0.50701	0.1631	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.69479	0.923;0.964;0.921	T	0.45673	-0.9245	10	0.26408	T	0.33	-43.7419	8.7613	0.34676	0.0:0.0:0.191:0.8089	.	279;383;383	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	Q	383	ENSP00000360799:K383Q;ENSP00000360797:K383Q	ENSP00000360797:K383Q	K	-	1	0	CARD9	138382032	0.995000	0.38212	0.762000	0.31397	0.079000	0.17450	2.517000	0.45529	1.744000	0.51775	0.533000	0.62120	AAG		0.692	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		G	139262211	T	G	139262211	3	3	203	1	0	0	0	0	1	0	0	0	2654	1821	63	5	540	5	CARD9	9	139262211	Missense_Mutation	SNP	T	TCGA-B0-5121-01A-02D-1421-08	15345057	139262211	1951220	25	12438											
OR9G4	283189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56510375	56510375	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr11:56510375A>G	ENST00000302957.3	-	1	912	c.913T>C	c.(913-915)Tat>Cat	p.Y305H		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y305H(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTCAGGCTATAGATGAGAGGG	0.428																																																1	Substitution - Missense(1)	kidney(1)											172	150	157					11																	56510375		2201	4296	6497	SO:0001583	missense	283189			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.913T>C	11.37:g.56510375A>G	ENSP00000307515:p.Tyr305His		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107073	0.77096	.	.	ENSG00000172457	ENST00000302957	T	0.61859	0.07	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35936	N	0.002885	T	0.81880	0.4916	H	0.94345	3.525	0.47547	D	0.999451	D	0.76494	0.999	D	0.83275	0.996	D	0.86967	0.2095	10	0.87932	D	0	-27.5163	13.8217	0.63325	1.0:0.0:0.0:0.0	.	305	Q8NGQ1	OR9G4_HUMAN	H	305	ENSP00000307515:Y305H	ENSP00000307515:Y305H	Y	-	1	0	OR9G4	56266951	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.108000	0.77055	2.131000	0.65755	0.523000	0.50628	TAT		0.428	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		G	56510375	A	G	56510375	3	3	203	1	0	0	0	0	1	0	0	0	11253	420	15	3	73	3	OR9G4	11	56510375	Missense_Mutation	SNP	A	TCGA-B0-5121-01A-02D-1421-08		56510375	78496141	26	12439											
OR4D9	390199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	59282457	59282457	+	Silent	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr11:59282457C>T	ENST00000329328.3	+	1	72	c.72C>T	c.(70-72)agC>agT	p.S24S		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S24S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GAGAACTGAGCCAGGTCTTAT	0.413																																																1	Substitution - coding silent(1)	kidney(1)											165	163	163					11																	59282457		2201	4295	6496	SO:0001819	synonymous_variant	390199			AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.72C>T	11.37:g.59282457C>T			Q6IFF3	Silent	SNP	ENST00000329328.3	37	CCDS31564.1																																																																																				0.413	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		T	59282457	C	T	59282457	2	4	203	1	0	0	0	0	0	0	0	1	11061	738	26	2		2	OR4D9	11	59282457	Silent	SNP	C	TCGA-B0-5121-01A-02D-1421-08	2772082	59282457	75724059	27	12440											
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62297275	62297275	+	Silent	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr11:62297275G>A	ENST00000378024.4	-	5	4888	c.4614C>T	c.(4612-4614)gaC>gaT	p.D1538D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1538					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.D1538D(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAACACCAAGGTCAGCCTTGG	0.502																																																1	Substitution - coding silent(1)	kidney(1)											151	162	158					11																	62297275		2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4614C>T	11.37:g.62297275G>A			A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62297275	G	A	62297275	2	1	203	1	0	0	0	0	0	0	0	1	414	1252	44	2		2	AHNAK	11	62297275	Silent	SNP	G	TCGA-B0-5121-01A-02D-1421-08	3014818	62297275	72709241	28	12441											
SLC3A2	6520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62652670	62652670	+	Silent	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr11:62652670C>T	ENST00000377890.2	+	9	1311	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377889.2_Silent_p.N319N|SLC3A2_ENST00000338663.7_Silent_p.N280N|SLC3A2_ENST00000535296.1_Silent_p.N350N|SLC3A2_ENST00000377891.2_Silent_p.N382N|SLC3A2_ENST00000377892.1_Silent_p.N412N|SLC3A2_ENST00000538682.1_3'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	381					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.N412N(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CGGGGACTAACTCCTCCGACC	0.532																																																1	Substitution - coding silent(1)	kidney(1)											111	104	106					11																	62652670		2201	4298	6499	SO:0001819	synonymous_variant	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1143C>T	11.37:g.62652670C>T			Q13543	Silent	SNP	ENST00000377890.2	37	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	C	5.066	0.197781	0.09652	.	.	ENSG00000168003	ENST00000539507	.	.	.	4.51	-2.93	0.05598	.	.	.	.	.	T	0.32041	0.0816	.	.	.	0.21740	N	0.999564	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	-0.1927	9.7545	0.40496	0.1202:0.2632:0.6166:0.0	.	.	.	.	F	8	.	.	L	+	1	0	SLC3A2	62409246	0.001000	0.12720	0.124000	0.21820	0.713000	0.41058	-0.475000	0.06599	-0.152000	0.11156	0.313000	0.20887	CTC		0.532	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		T	62652670	C	T	62652670	2	4	203	1	0	0	0	0	0	0	0	1	14633	564	20	2		2	SLC3A2	11	62652670	Silent	SNP	C	TCGA-B0-5121-01A-02D-1421-08	355395	62652670	72353846	29	12442											
PHLDB1	23187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118498567	118498567	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr11:118498567C>G	ENST00000361417.2	+	7	1439	c.1028C>G	c.(1027-1029)gCc>gGc	p.A343G	PHLDB1_ENST00000356063.5_Missense_Mutation_p.A343G	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	343								p.A343G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTGGCGGAGGCCCGGAGAGCC	0.662																																																1	Substitution - Missense(1)	kidney(1)											19	22	21					11																	118498567		2198	4290	6488	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1028C>G	11.37:g.118498567C>G	ENSP00000354498:p.Ala343Gly		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857330	0.51376	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000543207;ENST00000356063	T;T	0.30714	1.52;1.55	5.13	5.13	0.70059	.	0.400810	0.26478	N	0.024153	T	0.25975	0.0633	L	0.31664	0.95	0.80722	D	1	P;B;B;P	0.49783	0.928;0.372;0.187;0.565	P;B;B;B	0.44518	0.452;0.163;0.055;0.172	T	0.01578	-1.1320	10	0.17832	T	0.49	-27.5456	15.6133	0.76744	0.0:1.0:0.0:0.0	.	342;343;343;343	B4DIX4;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	G	343;102;342;343	ENSP00000354498:A343G;ENSP00000348359:A343G	ENSP00000348359:A343G	A	+	2	0	PHLDB1	118003777	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.432000	0.59922	2.667000	0.90743	0.563000	0.77884	GCC		0.662	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		G	118498567	C	G	118498567	3	3	203	1	0	0	0	0	1	0	0	0	11853	739	26	4	1046	4	PHLDB1	11	118498567	Missense_Mutation	SNP	C	TCGA-B0-5121-01A-02D-1421-08	55845897	118498567	16507949	30	12443											
CHD4	1108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6690533	6690533	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr12:6690533T>G	ENST00000357008.2	-	32	4866	c.4703A>C	c.(4702-4704)gAa>gCa	p.E1568A	RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000544040.1_Missense_Mutation_p.E1561A|CHD4_ENST00000544484.1_Missense_Mutation_p.E1593A|CHD4_ENST00000309577.6_Missense_Mutation_p.E1596A	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1568					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.E1596A(1)|p.E1568A(1)		central_nervous_system(2)	2						GAGGCTATTTTCCTCTATTTT	0.408																																					Colon(32;586 792 4568 16848 45314)											2	Substitution - Missense(2)	kidney(2)											179	168	171					12																	6690533		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4703A>C	12.37:g.6690533T>G	ENSP00000349508:p.Glu1568Ala		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.945910	0.34377	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90385	-2.66;-2.64;-2.66;-2.64	5.67	5.67	0.87782	.	0.180584	0.47455	D	0.000232	D	0.88691	0.6505	M	0.64997	1.995	0.52501	D	0.999954	B;B;B	0.25809	0.135;0.034;0.058	B;B;B	0.24701	0.055;0.025;0.055	D	0.85276	0.1059	10	0.26408	T	0.33	-9.3652	14.7855	0.69800	0.0:0.0:0.0:1.0	.	1596;1568;1561	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	A	1593;1561;1596;1568;1542	ENSP00000440392:E1593A;ENSP00000440542:E1561A;ENSP00000312419:E1596A;ENSP00000349508:E1568A	ENSP00000312419:E1596A	E	-	2	0	CHD4	6560794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.729000	0.68538	2.288000	0.76882	0.533000	0.62120	GAA		0.408	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		G	6690533	T	G	6690533	3	3	203	1	0	0	0	0	1	0	0	0	3329	1783	62	5	1071	5	CHD4	12	6690533	Missense_Mutation	SNP	T	TCGA-B0-5121-01A-02D-1421-08		6690533	127161362	31	12444											
BEST3	144453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	70087467	70087467	+	Silent	SNP	G	G	A	rs370248128		TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr12:70087467G>A	ENST00000330891.5	-	4	694	c.468C>T	c.(466-468)caC>caT	p.H156H	BEST3_ENST00000551160.1_Silent_p.H50H|BEST3_ENST00000266661.4_Silent_p.H50H|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_Silent_p.H50H|BEST3_ENST00000331471.4_Silent_p.H156H|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Silent_p.H50H	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	156					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.H156H(2)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCAACCACGTGGTCCATTG	0.468																																																2	Substitution - coding silent(2)	endometrium(1)|kidney(1)						G		0,4406		0,0,2203	123	95	104		468	-3.9	0.9	12		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BEST3	NM_032735.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		156/669	70087467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.468C>T	12.37:g.70087467G>A			B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	CCDS8992.2																																																																																				0.468	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		A	70087467	G	A	70087467	2	1	203	1	0	0	0	0	0	0	0	1	1406	1136	40	1		1	BEST3	12	70087467	Silent	SNP	G	TCGA-B0-5121-01A-02D-1421-08	63396934	70087467	63764428	32	12445											
TMTC2	160335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	83526102	83526102	+	Silent	SNP	A	A	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr12:83526102A>G	ENST00000321196.3	+	12	3152	c.2445A>G	c.(2443-2445)acA>acG	p.T815T	TMTC2_ENST00000549919.1_Silent_p.T809T	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	815					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.T815T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATGTCATCACACAGTCCAATC	0.522																																																1	Substitution - coding silent(1)	kidney(1)											101	82	88					12																	83526102		2203	4300	6503	SO:0001819	synonymous_variant	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2445A>G	12.37:g.83526102A>G			B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	CCDS9025.1																																																																																				0.522	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		G	83526102	A	G	83526102	2	3	203	1	0	0	0	0	0	0	0	1	16266	146	6	3		3	TMTC2	12	83526102	Silent	SNP	A	TCGA-B0-5121-01A-02D-1421-08	13438635	83526102	50325793	33	12446											
SLC5A8	160728	hgsc.bcm.edu	37	12	101560445	101560445	+	Silent	SNP	G	G	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr12:101560445G>T	ENST00000536262.2	-	12	1911	c.1353C>A	c.(1351-1353)gcC>gcA	p.A451A		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATAGAGAAATGGCAAATCCAG	0.378																																					GBM(60;420 1056 13605 22380 47675)											0													84	75	78					12																	101560445		2203	4300	6503	SO:0001819	synonymous_variant	160728			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1353C>A	12.37:g.101560445G>T				Silent	SNP	ENST00000536262.2	37	CCDS9080.1																																																																																				0.378	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		T	101560445	G	T	101560445	2	4	203	1	0	0	0	0	0	0	0	1	14677	1335	47	4		4	SLC5A8	12	101560445	Silent	SNP	G	TCGA-B0-5121-01A-02D-1421-08	18034343	101560445	32291450	34	12447											
TPTE2	93492	broad.mit.edu;hgsc.bcm.edu	37	13	20025322	20025322	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr13:20025322C>A	ENST00000400230.2	-	11	829	c.785G>T	c.(784-786)cGa>cTa	p.R262L	TPTE2_ENST00000457266.2_Missense_Mutation_p.R151L|TPTE2_ENST00000382975.4_Missense_Mutation_p.R222L|TPTE2_ENST00000400103.2_Missense_Mutation_p.R151L|TPTE2_ENST00000382977.4_Missense_Mutation_p.R262L|TPTE2_ENST00000382978.1_Missense_Mutation_p.R222L|TPTE2_ENST00000390680.2_Missense_Mutation_p.R185L|TPTE2_ENST00000255310.6_Missense_Mutation_p.R185L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	262	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R262L(1)|p.R185L(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATTGTAGACTCGATAGTGGTT	0.338																																																2	Substitution - Missense(2)	kidney(2)											134	119	124					13																	20025322		2203	4299	6502	SO:0001583	missense	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.785G>T	13.37:g.20025322C>A	ENSP00000383089:p.Arg262Leu		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	5.202	0.222824	0.09863	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	2.63	-4.25	0.03766	Phosphatase tensin type (1);	0.370090	0.27826	N	0.017691	D	0.89241	0.6659	N	0.05177	-0.1	0.24784	N	0.992793	B;B;B	0.30482	0.173;0.099;0.281	B;B;B	0.26310	0.068;0.024;0.032	D	0.87198	0.2239	9	.	.	.	-0.3035	2.4156	0.04435	0.3903:0.2902:0.0:0.3194	.	151;185;262	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	L	222;151;262;185;185;262;222;151;262;131	ENSP00000372438:R222L;ENSP00000382974:R151L;ENSP00000383089:R262L;ENSP00000255310:R185L;ENSP00000375098:R185L;ENSP00000372437:R262L;ENSP00000372435:R222L;ENSP00000442218:R151L	.	R	-	2	0	TPTE2	18923322	1.000000	0.71417	0.060000	0.19600	0.235000	0.25334	0.762000	0.26503	-0.856000	0.04120	0.194000	0.17425	CGA		0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		A	20025322	C	A	20025322	3	1	203	1	0	0	0	0	1	0	0	0	16436	884	31	4	823	4	TPTE2	13	20025322	Missense_Mutation	SNP	C	TCGA-B0-5121-01A-02D-1421-08		20025322	95144556	35	12448											
PABPC3	5042	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25670664	25670664	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr13:25670664A>C	ENST00000281589.3	+	1	365	c.328A>C	c.(328-330)Att>Ctt	p.I110L		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	110	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.I110L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GGATAAGTCCATTAATAATAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											114	110	111					13																	25670664		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.328A>C	13.37:g.25670664A>C	ENSP00000281589:p.Ile110Leu		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929885	0.52759	.	.	ENSG00000151846	ENST00000281589	T	0.15952	2.38	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.47455	U	0.000225	T	0.21186	0.0510	L	0.33753	1.03	0.41461	D	0.98804	P	0.39576	0.679	P	0.55871	0.786	T	0.05533	-1.0879	10	0.87932	D	0	.	5.327	0.15913	0.9999:0.0:1.0E-4:0.0	.	110	Q9H361	PABP3_HUMAN	L	110	ENSP00000281589:I110L	ENSP00000281589:I110L	I	+	1	0	PABPC3	24568664	1.000000	0.71417	0.039000	0.18376	0.017000	0.09413	4.597000	0.61062	0.469000	0.27268	0.254000	0.18369	ATT		0.393	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		C	25670664	A	C	25670664	3	2	203	1	0	0	0	0	1	0	0	0	11367	217	8	5	330	5	PABPC3	13	25670664	Missense_Mutation	SNP	A	TCGA-B0-5121-01A-02D-1421-08	5645342	25670664	89499214	36	12449											
PDS5B	23047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33261392	33261392	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr13:33261392A>C	ENST00000315596.10	+	12	1511	c.1325A>C	c.(1324-1326)cAt>cCt	p.H442P		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	442					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.H442P(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAATTGCTACATATATATTAT	0.303																																																1	Substitution - Missense(1)	kidney(1)											57	59	58					13																	33261392		1820	4086	5906	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1325A>C	13.37:g.33261392A>C	ENSP00000313851:p.His442Pro		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.145036	0.57044	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.79040	-0.1966	9	0.44086	T	0.13	-7.4961	16.1778	0.81874	1.0:0.0:0.0:0.0	.	442;442	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	P	442	.	ENSP00000313851:H442P	H	+	2	0	PDS5B	32159392	1.000000	0.71417	0.834000	0.33040	0.101000	0.19017	9.181000	0.94874	2.279000	0.76181	0.533000	0.62120	CAT		0.303	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		C	33261392	A	C	33261392	3	2	203	1	0	0	0	0	1	0	0	0	11694	217	8	5	1367	5	PDS5B	13	33261392	Missense_Mutation	SNP	A	TCGA-B0-5121-01A-02D-1421-08	7590728	33261392	81908486	37	12450											
ABCC4	10257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95830003	95830003	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr13:95830003A>C	ENST00000376887.4	-	13	1799	c.1685T>G	c.(1684-1686)cTc>cGc	p.L562R	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.L562R|ABCC4_ENST00000536256.1_Missense_Mutation_p.L487R|ABCC4_ENST00000431522.1_Missense_Mutation_p.L562R	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	562	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L562R(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TACTGCACTGAGAGGATCGTC	0.438																																																2	Substitution - Missense(2)	kidney(2)											152	130	137					13																	95830003		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1685T>G	13.37:g.95830003A>C	ENSP00000366084:p.Leu562Arg		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.339818	0.41398	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	5.4	5.4	0.78164	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	H	0.95850	3.73	0.80722	D	1	D;P;P;P;D	0.71674	0.998;0.951;0.948;0.951;0.958	D;P;P;P;P	0.74023	0.982;0.829;0.901;0.869;0.867	D	0.99129	1.0852	10	0.87932	D	0	.	15.7275	0.77774	1.0:0.0:0.0:0.0	.	487;562;562;562;562	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	R	562;562;487;562	ENSP00000388657:L562R;ENSP00000366084:L562R;ENSP00000442024:L487R;ENSP00000398562:L562R	ENSP00000366084:L562R	L	-	2	0	ABCC4	94628004	1.000000	0.71417	0.980000	0.43619	0.270000	0.26580	8.772000	0.91757	2.164000	0.68074	0.533000	0.62120	CTC		0.438	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		C	95830003	A	C	95830003	3	2	203	1	0	0	0	0	1	0	0	0	55	304	11	5	2417	5	ABCC4	13	95830003	Missense_Mutation	SNP	A	TCGA-B0-5121-01A-02D-1421-08	62568611	95830003	19339875	38	12451											
C14orf149	112849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59942835	59942835	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr14:59942835T>G	ENST00000247194.4	-	3	889	c.776A>C	c.(775-777)aAc>aCc	p.N259T	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.N88T|L3HYPDH_ENST00000543619.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	259					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)	p.N259T(1)								L-Proline(DB00172)	AACACAAATGTTGGTGGTTGG	0.333																																																1	Substitution - Missense(1)	kidney(1)											141	148	145					14																	59942835		2203	4300	6503	SO:0001583	missense	0			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.776A>C	14.37:g.59942835T>G	ENSP00000247194:p.Asn259Thr		Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215411	0.79352	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.20598	2.06;2.06;2.06	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	M	0.91090	3.175	0.80722	D	1	P	0.37548	0.599	B	0.43809	0.432	T	0.53809	-0.8386	10	0.87932	D	0	.	15.6924	0.77464	0.0:0.0:0.0:1.0	.	259	Q96EM0	PRCM_HUMAN	T	259;88;88	ENSP00000247194:N259T;ENSP00000431608:N88T;ENSP00000423874:N88T	ENSP00000247194:N259T	N	-	2	0	C14orf149	59012588	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.483000	0.66838	2.103000	0.63969	0.482000	0.46254	AAC		0.333	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		G	59942835	T	G	59942835	3	3	203	1	0	0	0	0	1	0	0	0	1754	1725	60	5	300	5	C14orf149	14	59942835	Missense_Mutation	SNP	T	TCGA-B0-5121-01A-02D-1421-08		59942835	47406705	39	12452											
WDR72	256764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	54025233	54025233	+	Silent	SNP	C	C	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr15:54025233C>T	ENST00000396328.1	-	2	353	c.114G>A	c.(112-114)gaG>gaA	p.E38E	WDR72_ENST00000557913.1_Silent_p.E38E|WDR72_ENST00000360509.5_Silent_p.E38E|WDR72_ENST00000559418.1_Silent_p.E38E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	38								p.E38E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGAGCTGACCCTCTTGACTTC	0.488																																																1	Substitution - coding silent(1)	kidney(1)											128	107	114					15																	54025233		2194	4293	6487	SO:0001819	synonymous_variant	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.114G>A	15.37:g.54025233C>T			Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	CCDS10151.1																																																																																				0.488	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		T	54025233	C	T	54025233	2	4	203	1	0	0	0	0	0	0	0	1	17327	680	24	2		2	WDR72	15	54025233	Silent	SNP	C	TCGA-B0-5121-01A-02D-1421-08		54025233	48506159	40	12453											
BAIAP3	8938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1389514	1389514	+	Silent	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr16:1389514G>A	ENST00000324385.5	+	5	581	c.423G>A	c.(421-423)gaG>gaA	p.E141E	BAIAP3_ENST00000397489.1_Silent_p.E123E|BAIAP3_ENST00000421665.2_Silent_p.E106E|BAIAP3_ENST00000562208.1_Intron|BAIAP3_ENST00000568887.1_Intron|BAIAP3_ENST00000426824.3_Silent_p.E106E|BAIAP3_ENST00000397488.2_Silent_p.E123E	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	141					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.E141E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCTCTACGAGGAGGCCCTGT	0.682																																																1	Substitution - coding silent(1)	kidney(1)											55	48	51					16																	1389514		2197	4299	6496	SO:0001819	synonymous_variant	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.423G>A	16.37:g.1389514G>A			A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	CCDS10434.1																																																																																				0.682	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			A	1389514	G	A	1389514	2	1	203	1	0	0	0	0	0	0	0	1	1304	991	35	2		2	BAIAP3	16	1389514	Silent	SNP	G	TCGA-B0-5121-01A-02D-1421-08		1389514	88965239	41	12454											
KIAA0556	23247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27732992	27732992	+	Silent	SNP	T	T	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr16:27732992T>C	ENST00000261588.4	+	14	1738	c.1719T>C	c.(1717-1719)gtT>gtC	p.V573V	CTD-2049O4.1_ENST00000563052.1_RNA|Y_RNA_ENST00000364501.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	573						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V573V(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGATCAAGGTTCGGAATTACT	0.537																																																2	Substitution - coding silent(2)	kidney(2)											76	70	72					16																	27732992		2197	4300	6497	SO:0001819	synonymous_variant	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1719T>C	16.37:g.27732992T>C			A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																				0.537	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		C	27732992	T	C	27732992	2	2	203	1	0	0	0	0	0	0	0	1	8185	1770	62	3		3	KIAA0556	16	27732992	Silent	SNP	T	TCGA-B0-5121-01A-02D-1421-08	26343478	27732992	62621761	42	12455											
ADAMTS18	170692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	77327151	77327151	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr16:77327151G>A	ENST00000282849.5	-	20	3429	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1004	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1004F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACAGGTCTTGGAACACTTGAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											64	65	65					16																	77327151		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3011C>T	16.37:g.77327151G>A	ENSP00000282849:p.Ser1004Phe		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892296	0.52014	.	.	ENSG00000140873	ENST00000282849	T	0.68624	-0.34	6.07	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	H	0.99336	4.52	0.58432	D	0.999998	D;D	0.89917	1.0;0.958	D;D	0.74348	0.983;0.969	D	0.93448	0.6799	10	0.87932	D	0	.	14.5139	0.67807	0.0698:0.0:0.9302:0.0	.	1004;1004	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	F	1004	ENSP00000282849:S1004F	ENSP00000282849:S1004F	S	-	2	0	ADAMTS18	75884652	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	9.086000	0.94088	1.587000	0.49959	-0.145000	0.13849	TCC		0.468	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			A	77327151	G	A	77327151	3	1	203	1	0	0	0	0	1	0	0	0	263	1174	41	2	670	2	ADAMTS18	16	77327151	Missense_Mutation	SNP	G	TCGA-B0-5121-01A-02D-1421-08	49594159	77327151	13027602	43	12456											
SPATA22	84690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3370723	3370723	+	Missense_Mutation	SNP	T	T	C	rs371455241		TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:3370723T>C	ENST00000573128.1	-	3	652	c.169A>G	c.(169-171)Aca>Gca	p.T57A	SPATA22_ENST00000397168.3_Missense_Mutation_p.T57A|SPATA22_ENST00000541913.1_Intron|SPATA22_ENST00000572969.1_Missense_Mutation_p.T57A|SPATA22_ENST00000575375.1_Missense_Mutation_p.T57A|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000268981.5_Missense_Mutation_p.T57A			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	57					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)		p.T57A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TTCTTACCTGTAGGTAGAGGA	0.279																																																1	Substitution - Missense(1)	kidney(1)						T	ALA/THR,,ALA/THR,ALA/THR,ALA/THR,ALA/THR	1,4405	2.1+/-5.4	0,1,2202	87	89	88		169,,169,169,169,169	-1.5	1	17		88	0,8596		0,0,4298	no	missense,intron,missense,missense,missense,missense	SPATA22	NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4	58,,58,58,58,58	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	benign,,benign,benign,benign,benign	57/364,,57/364,57/364,57/270,57/364	3370723	1,13001	2203	4298	6501	SO:0001583	missense	84690			AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.169A>G	17.37:g.3370723T>C	ENSP00000459580:p.Thr57Ala		B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	t	12.06	1.825127	0.32237	2.27E-4	0.0	ENSG00000141255	ENST00000397168;ENST00000268981	T;T	0.18016	2.27;2.24	5.28	-1.48	0.08745	.	0.288857	0.25148	N	0.032776	T	0.07188	0.0182	L	0.27053	0.805	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.33828	-0.9853	10	0.18276	T	0.48	.	0.2792	0.00242	0.3291:0.1507:0.2383:0.2818	.	57;57	B4DXB1;Q8NHS9	.;SPT22_HUMAN	A	57	ENSP00000380354:T57A;ENSP00000268981:T57A	ENSP00000268981:T57A	T	-	1	0	SPATA22	3317473	0.450000	0.25697	0.996000	0.52242	0.901000	0.52897	-0.514000	0.06298	-0.165000	0.10908	-0.400000	0.06385	ACA		0.279	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		C	3370723	T	C	3370723	3	2	203	1	0	0	0	0	1	0	0	0	15013	1638	57	3	950	3	SPATA22	17	3370723	Missense_Mutation	SNP	T	TCGA-B0-5121-01A-02D-1421-08		3370723	77824487	44	12457											
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4017674	4017674	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:4017674G>A	ENST00000381638.2	-	4	909	c.785C>T	c.(784-786)tCg>tTg	p.S262L	ZZEF1_ENST00000574474.1_5'UTR|snoU13_ENST00000459263.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	262	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.						calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S262L(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AATGTCTGCCGAGTTGGAGGA	0.448																																																1	Substitution - Missense(1)	kidney(1)											181	158	166					17																	4017674		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.785C>T	17.37:g.4017674G>A	ENSP00000371051:p.Ser262Leu		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596579	0.28445	.	.	ENSG00000074755	ENST00000381638	T	0.64618	-0.11	5.12	5.12	0.69794	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.459276	0.25636	N	0.029318	T	0.55337	0.1914	L	0.42245	1.32	0.31751	N	0.634529	B;B	0.33318	0.201;0.408	B;B	0.27608	0.032;0.081	T	0.64309	-0.6438	10	0.46703	T	0.11	-3.3567	18.5639	0.91111	0.0:0.0:1.0:0.0	.	262;262	O43149-3;O43149	.;ZZEF1_HUMAN	L	262	ENSP00000371051:S262L	ENSP00000371051:S262L	S	-	2	0	ZZEF1	3964423	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	6.003000	0.70701	2.359000	0.80004	0.557000	0.71058	TCG		0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		A	4017674	G	A	4017674	3	1	203	1	0	0	0	0	1	0	0	0	18260	1059	37	1	8308	1	ZZEF1	17	4017674	Missense_Mutation	SNP	G	TCGA-B0-5121-01A-02D-1421-08	646951	4017674	77177536	45	12458											
CAMTA2	23125	hgsc.bcm.edu	37	17	4872070	4872071	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:4872070_4872071insG	ENST00000348066.3	-	23	3712_3713	c.3589_3590insC	c.(3589-3591)cagfs	p.Q1197fs	SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.P1219fs|SPAG7_ENST00000573366.1_5'Flank|SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.Q1196fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.Q1190fs|SPAG7_ENST00000575142.1_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.Q1192fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.Q1202fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1197					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CAGTCCCGGCTGGGGAAGCCCT	0.629																																																0																																										SO:0001589	frameshift_variant	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3590dupC	17.37:g.4872074_4872074dupG	ENSP00000321813:p.Gln1197fs		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	CCDS11063.1																																																																																				0.629	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		G	4872071	-	G	4872070	7	5	203	1	0	1	1	0	0	0	0	0	2616	1580	55	0	72	0	CAMTA2	17	4872070	Frame_Shift_Ins	INS	-	TCGA-B0-5121-01A-02D-1421-08	854396	4872070	76323140	46	12459											
ABCA9	10350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	67023488	67023488	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:67023488T>C	ENST00000340001.4	-	14	2105	c.1894A>G	c.(1894-1896)Att>Gtt	p.I632V	ABCA9_ENST00000453985.2_Missense_Mutation_p.I632V|ABCA9_ENST00000370732.2_Missense_Mutation_p.I632V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	632	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I632V(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCTCCTAAAATGGCAATCCCA	0.303																																																1	Substitution - Missense(1)	kidney(1)											44	41	42					17																	67023488		2203	4292	6495	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1894A>G	17.37:g.67023488T>C	ENSP00000342216:p.Ile632Val		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.246504	0.39697	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.93763	-3.28;-3.28	5.09	1.4	0.22301	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.278618	0.24983	N	0.034050	D	0.89511	0.6736	L	0.33485	1.01	0.31591	N	0.653852	P;B	0.50066	0.931;0.423	P;B	0.50617	0.646;0.264	D	0.85501	0.1191	10	0.22706	T	0.39	.	7.4408	0.27181	0.1335:0.0:0.2786:0.5878	.	632;632	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	V	632;615;632;627	ENSP00000342216:I632V;ENSP00000359767:I632V	ENSP00000342216:I632V	I	-	1	0	ABCA9	64535083	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.963000	0.29293	0.008000	0.14787	0.477000	0.44152	ATT		0.303	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		C	67023488	T	C	67023488	3	2	203	1	0	0	0	0	1	0	0	0	39	1464	51	3	3084	3	ABCA9	17	67023488	Missense_Mutation	SNP	T	TCGA-B0-5121-01A-02D-1421-08	62151418	67023488	14171722	47	12460											
JMJD6	23210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74719948	74719948	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr17:74719948A>T	ENST00000397625.4	-	3	825	c.711T>A	c.(709-711)aaT>aaA	p.N237K	METTL23_ENST00000588783.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.N237K|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.N237K	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	237	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.N237K(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						GATAAATAACATTAAACCAGG	0.493																																																2	Substitution - Missense(2)	kidney(2)											148	143	145					17																	74719948		1907	4124	6031	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.711T>A	17.37:g.74719948A>T	ENSP00000380750:p.Asn237Lys		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	A	4.418	0.077361	0.08485	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.70869	-0.52;-0.52	5.31	-3.25	0.05079	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.446090	0.28865	N	0.013882	T	0.36853	0.0982	N	0.10707	0.03	0.36550	D	0.871774	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.10450	0.005;0.001;0.003	T	0.37911	-0.9685	10	0.05959	T	0.93	-5.1851	6.0881	0.19978	0.2789:0.108:0.5072:0.1059	.	237;237;237	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	K	237	ENSP00000394085:N237K;ENSP00000380750:N237K	ENSP00000302916:N237K	N	-	3	2	JMJD6	72231543	0.017000	0.18338	0.007000	0.13788	0.980000	0.70556	-0.068000	0.11561	-0.684000	0.05183	-0.304000	0.09214	AAT		0.493	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		T	74719948	A	T	74719948	3	4	203	1	0	0	0	0	1	0	0	0	7955	214	8	5	557	5	JMJD6	17	74719948	Missense_Mutation	SNP	A	TCGA-B0-5121-01A-02D-1421-08	7696460	74719948	6475262	48	12461											
DSC1	1823	broad.mit.edu	37	18	28720256	28720256	+	Silent	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr18:28720256G>A	ENST00000257198.5	-	10	1530	c.1269C>T	c.(1267-1269)aaC>aaT	p.N423N	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.N423N	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	423	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N423N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGACTTCATAGTTCAATGGCT	0.313																																																2	Substitution - coding silent(2)	kidney(2)											55	51	52					18																	28720256		2203	4300	6503	SO:0001819	synonymous_variant	1823			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1269C>T	18.37:g.28720256G>A			Q9HB01	Silent	SNP	ENST00000257198.5	37	CCDS11894.1																																																																																				0.313	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		A	28720256	G	A	28720256	2	1	203	1	0	0	0	0	0	0	0	1	4767	1020	36	2		2	DSC1	18	28720256	Silent	SNP	G	TCGA-B0-5121-01A-02D-1421-08		28720256	49356992	49	12462											
ZNF430	80264	hgsc.bcm.edu	37	19	21216891	21216891	+	Splice_Site	SNP	G	G	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr19:21216891G>A	ENST00000261560.5	+	4	404		c.e4-1		ZNF430_ENST00000595401.1_Intron|ZNF430_ENST00000599548.1_Splice_Site	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430						regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTTCAATAAAGCAGGTATTGC	0.388																																																1	Unknown(1)	kidney(1)											81	84	83					19																	21216891		2203	4300	6503	SO:0001630	splice_region_variant	80264			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.224-1G>A	19.37:g.21216891G>A			Q86V70	Splice_Site	SNP	ENST00000261560.5	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	G	8.437	0.850024	0.17034	.	.	ENSG00000118620	ENST00000261560	.	.	.	0.195	0.195	0.15151	.	.	.	.	.	.	.	.	.	.	.	0.35355	D	0.787668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF430	21008731	0.035000	0.19736	0.416000	0.26546	0.412000	0.31113	-0.165000	0.09968	0.300000	0.22699	0.306000	0.20318	.		0.388	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189	Intron	A	21216891	G	A	21216891	5	1	203	1	0	0	0	0	0	0	1	0	17909	985	34	2	237	2	ZNF430	19	21216891	Splice_Site	SNP	G	TCGA-B0-5121-01A-02D-1421-08		21216891	37912092	50	12463											
KRTAP13-1	140258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	31768847	31768847	+	Missense_Mutation	SNP	G	G	C	rs151147550	byFrequency	TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr21:31768847G>C	ENST00000355459.2	+	1	456	c.443G>C	c.(442-444)cGc>cCc	p.R148P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	148						intermediate filament (GO:0005882)		p.R148P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATTCTGCCGCCCAACCTAC	0.517																																																1	Substitution - Missense(1)	kidney(1)											56	53	54					21																	31768847		2203	4300	6503	SO:0001583	missense	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.443G>C	21.37:g.31768847G>C	ENSP00000347635:p.Arg148Pro		Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	g	8.990	0.977541	0.18812	.	.	ENSG00000198390	ENST00000355459	T	0.03920	3.76	4.54	-8.89	0.00785	.	0.929657	0.08870	N	0.881636	T	0.04770	0.0129	M	0.71206	2.165	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.41574	-0.9501	10	0.66056	D	0.02	.	2.0605	0.03591	0.47:0.0856:0.1654:0.2789	.	148	Q8IUC0	KR131_HUMAN	P	148	ENSP00000347635:R148P	ENSP00000347635:R148P	R	+	2	0	KRTAP13-1	30690718	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-6.748000	0.00055	-2.071000	0.00880	-0.844000	0.03045	CGC		0.517	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			C	31768847	G	C	31768847	3	2	203	1	0	0	0	0	1	0	0	0	8524	1087	38	4	445	4	KRTAP13-1	21	31768847	Missense_Mutation	SNP	G	TCGA-B0-5121-01A-02D-1421-08		31768847	16361048	51	12464											
DGCR2	9993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	19076918	19076918	+	Silent	SNP	C	C	A			TCGA-B0-5121-01A-02D-1421-08	TCGA-B0-5121-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2751cb2-8545-490c-92d9-edb9775d32b8	8020d022-9a26-4683-8cc0-7de39f5b1b38	g.chr22:19076918C>A	ENST00000263196.7	-	2	412	c.165G>T	c.(163-165)gcG>gcT	p.A55A	DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000545799.1_Silent_p.A55A	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	55	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A55A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CCTCGCAAGTCGCCCAGCCGT	0.607																																																1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	9993			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.165G>T	22.37:g.19076918C>A			A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	CCDS33598.1																																																																																				0.607	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		A	19076918	C	A	19076918	2	1	203	1	0	0	0	0	0	0	0	1	4463	871	31	4		4	DGCR2	22	19076918	Silent	SNP	C	TCGA-B0-5121-01A-02D-1421-08		19076918	32227648	52	12465											
ACTL8	81569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	18149661	18149661	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr1:18149661T>C	ENST00000375406.1	+	2	374	c.158T>C	c.(157-159)cTg>cCg	p.L53P		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	53					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L53P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGTGTGAGCCTGGGCATCGAC	0.587																																																1	Substitution - Missense(1)	kidney(1)											130	115	120					1																	18149661		2203	4300	6503	SO:0001583	missense	81569			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.158T>C	1.37:g.18149661T>C	ENSP00000364555:p.Leu53Pro		Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	CCDS183.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572386	0.86542	.	.	ENSG00000117148	ENST00000375406	D	0.94828	-3.53	5.51	3.08	0.35506	.	0.265787	0.19679	N	0.108548	D	0.90648	0.7067	L	0.54323	1.7	0.22562	N	0.998982	B	0.32543	0.375	B	0.34301	0.179	D	0.84847	0.0811	10	0.87932	D	0	-31.2905	4.3504	0.11153	0.175:0.0936:0.0:0.7314	.	53	Q9H568	ACTL8_HUMAN	P	53	ENSP00000364555:L53P	ENSP00000364555:L53P	L	+	2	0	ACTL8	18022248	0.506000	0.26139	0.171000	0.22900	0.987000	0.75469	2.340000	0.43974	2.089000	0.63090	0.533000	0.62120	CTG		0.587	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		C	18149661	T	C	18149661	3	2	204	1	0	0	0	0	1	0	0	0	202	1580	55	3	160	3	ACTL8	1	18149661	Missense_Mutation	SNP	T	TCGA-B0-5399-01A-01D-1501-10		18149661	231100960	1	12466											
COL11A1	1301	broad.mit.edu;ucsc.edu	37	1	103404625	103404625	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr1:103404625C>T	ENST00000370096.3	-	44	3716	c.3404G>A	c.(3403-3405)gGa>gAa	p.G1135E	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1019E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1096E|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1147E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1135	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1135E(1)|p.G1147E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCTTTTTGTCCCGGCTCACC	0.333																																																2	Substitution - Missense(2)	kidney(2)											146	147	147					1																	103404625		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3404G>A	1.37:g.103404625C>T	ENSP00000359114:p.Gly1135Glu		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380383	0.61845	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.96142	3.775	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;1.0;0.999;1.0	D	0.97022	0.9744	10	0.87932	D	0	.	19.2688	0.94000	0.0:1.0:0.0:0.0	.	1019;1096;1147;1135;355	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	E	1135;1147;1096;355;1019	ENSP00000359114:G1135E;ENSP00000351163:G1147E;ENSP00000302551:G1096E;ENSP00000426533:G1019E	ENSP00000302551:G1096E	G	-	2	0	COL11A1	103177213	1.000000	0.71417	0.987000	0.45799	0.602000	0.36980	7.750000	0.85110	2.639000	0.89480	0.591000	0.81541	GGA		0.333	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103404625	C	T	103404625	3	4	204	1	0	0	0	0	1	0	0	0	3669	855	30	2	2112	2	COL11A1	1	103404625	Missense_Mutation	SNP	C	TCGA-B0-5399-01A-01D-1501-10	85254964	103404625	145845996	2	12467											
XCL1	6375	broad.mit.edu;hgsc.bcm.edu	37	1	168550370	168550371	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr1:168550370_168550371GG>AC	ENST00000367818.3	+	3	422_423	c.257_258GG>AC	c.(256-258)aGG>aAC	p.R86N		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	86					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)	p.R86S(1)|p.R86K(1)		kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					AGCATGGACAGGAAATCCAACA	0.485																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	6375			D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"Endogenous ligands"	10645	protein-coding gene	gene with protein product		600250	"small inducible cytokine subfamily C, member 1 (lymphotactin)"	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	Exception_encountered	1.37:g.168550370_168550371delinsAC	ENSP00000356792:p.Arg86Asn		Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	CCDS1274.1																																																																																				0.485	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		AC	168550371	GG	AC	168550370	3	1	204	1	0	0	0	0	1	0	0	0	17428	1000	35	2	267	2	XCL1	1	168550370	Missense_Mutation	DNP	GG	TCGA-B0-5399-01A-01D-1501-10	65145745	168550370	80700251	3	12468											
FAM5C	339479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	190067353	190067353	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr1:190067353G>T	ENST00000367462.3	-	8	2327	c.2096C>A	c.(2095-2097)gCa>gAa	p.A699E	BRINP3_ENST00000534846.1_Missense_Mutation_p.A597E	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	699					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.A699E(1)									TTGCAAAAGTGCTGAATCCTG	0.473																																																1	Substitution - Missense(1)	kidney(1)											103	102	102					1																	190067353		2203	4300	6503	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2096C>A	1.37:g.190067353G>T	ENSP00000356432:p.Ala699Glu		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.332927	0.60853	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21031	2.28;2.03	5.72	5.72	0.89469	.	0.111293	0.64402	D	0.000011	T	0.47691	0.1459	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.42396	-0.9454	10	0.72032	D	0.01	-30.537	17.3704	0.87376	0.0:0.0:1.0:0.0	.	597;699	B7Z260;Q76B58	.;FAM5C_HUMAN	E	699;597	ENSP00000356432:A699E;ENSP00000438022:A597E	ENSP00000356432:A699E	A	-	2	0	FAM5C	188333976	1.000000	0.71417	0.973000	0.42090	0.901000	0.52897	7.958000	0.87877	2.695000	0.91970	0.650000	0.86243	GCA		0.473	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		T	190067353	G	T	190067353	3	4	204	1	0	0	0	0	1	0	0	0	5596	1319	46	4	208	4	FAM5C	1	190067353	Missense_Mutation	SNP	G	TCGA-B0-5399-01A-01D-1501-10	21516983	190067353	59183268	4	12469											
PTPN14	5784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214549669	214549669	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr1:214549669C>T	ENST00000366956.5	-	15	2994	c.2800G>A	c.(2800-2802)Gcc>Acc	p.A934T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	934	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.A934T(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTGCGCTCGGCGTTTTCTGGC	0.453																																					Colon(92;557 1424 24372 34121 40073)											1	Substitution - Missense(1)	kidney(1)											161	157	159					1																	214549669		2203	4300	6503	SO:0001583	missense	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2800G>A	1.37:g.214549669C>T	ENSP00000355923:p.Ala934Thr		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381141	0.24944	.	.	ENSG00000152104	ENST00000366956	T	0.14022	2.54	5.22	3.33	0.38152	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.530452	0.21039	N	0.081220	T	0.07143	0.0181	L	0.31664	0.95	0.09310	N	0.999997	B	0.13145	0.007	B	0.06405	0.002	T	0.32981	-0.9886	10	0.14656	T	0.56	.	1.4327	0.02337	0.21:0.432:0.2038:0.1542	.	934	Q15678	PTN14_HUMAN	T	934	ENSP00000355923:A934T	ENSP00000355923:A934T	A	-	1	0	PTPN14	212616292	0.008000	0.16893	0.960000	0.40013	0.620000	0.37586	0.817000	0.27281	1.193000	0.43086	-0.169000	0.13324	GCC		0.453	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		T	214549669	C	T	214549669	3	4	204	1	0	0	0	0	1	0	0	0	12789	768	27	1	783	1	PTPN14	1	214549669	Missense_Mutation	SNP	C	TCGA-B0-5399-01A-01D-1501-10	24482316	214549669	34700952	5	12470											
CD207	50489	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	71060814	71060814	+	Silent	SNP	G	G	C			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr2:71060814G>C	ENST00000410009.3	-	3	573	c.528C>G	c.(526-528)ggC>ggG	p.G176G		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	176					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)	p.G176G(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TCTCCAAGCTGCCCTGGAGTG	0.448																																																1	Substitution - coding silent(1)	kidney(1)											79	70	73					2																	71060814		1868	4105	5973	SO:0001819	synonymous_variant	50489			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.528C>G	2.37:g.71060814G>C				Silent	SNP	ENST00000410009.3	37																																																																																					0.448	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		C	71060814	G	C	71060814	2	2	204	1	0	0	0	0	0	0	0	1	2985	1306	46	4		4	CD207	2	71060814	Silent	SNP	G	TCGA-B0-5399-01A-01D-1501-10		71060814	172138559	6	12471											
IL1F10	84639	hgsc.bcm.edu	37	2	113832829	113832829	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr2:113832829C>A	ENST00000393197.2	+	4	768	c.347C>A	c.(346-348)gCc>gAc	p.A116D	IL1F10_ENST00000341010.2_Missense_Mutation_p.A116D|IL1F10_ENST00000337569.3_Missense_Mutation_p.A116D	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	116						extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						GAGGCTGCTGCCTGGCCTGGC	0.577																																																0													70	75	73					2																	113832829		2203	4300	6503	SO:0001583	missense	84639			AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"Interleukins and interleukin receptors"	15552	protein-coding gene	gene with protein product	"FIL1- theta", "interleukin-1 receptor antagonist FKSG75"	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.347C>A	2.37:g.113832829C>A	ENSP00000376893:p.Ala116Asp		Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	ENST00000393197.2	37	CCDS2112.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174427	0.78452	.	.	ENSG00000136697	ENST00000341010;ENST00000337569;ENST00000393197	T;T;T	0.19806	2.12;2.12;2.12	4.87	4.87	0.63330	.	0.460846	0.25561	N	0.029835	T	0.48447	0.1500	M	0.88979	2.995	0.39967	D	0.974741	D;D	0.64830	0.993;0.994	P;P	0.61132	0.884;0.836	T	0.57980	-0.7717	10	0.52906	T	0.07	-20.9552	13.8703	0.63615	0.0:1.0:0.0:0.0	.	116;116	Q8WWZ1-2;Q8WWZ1	.;IL1FA_HUMAN	D	116	ENSP00000341794:A116D;ENSP00000338418:A116D;ENSP00000376893:A116D	ENSP00000338418:A116D	A	+	2	0	IL1F10	113549300	0.988000	0.35896	0.999000	0.59377	0.852000	0.48524	3.813000	0.55636	2.421000	0.82119	0.655000	0.94253	GCC		0.577	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161		A	113832829	C	A	113832829	3	1	204	1	0	0	0	0	1	0	0	0	7654	739	26	4	361	4	IL1F10	2	113832829	Missense_Mutation	SNP	C	TCGA-B0-5399-01A-01D-1501-10	42772015	113832829	129366544	7	12472											
ASNSD1	54529	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	190532647	190532647	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr2:190532647T>A	ENST00000260952.4	+	5	2035	c.1622T>A	c.(1621-1623)aTt>aAt	p.I541N	ASNSD1_ENST00000607062.1_Missense_Mutation_p.I60N	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	541	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.I541N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GACAGAGTTATTGGTGATCAT	0.373																																																1	Substitution - Missense(1)	kidney(1)											123	128	126					2																	190532647		2203	4300	6503	SO:0001583	missense	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1622T>A	2.37:g.190532647T>A	ENSP00000260952:p.Ile541Asn		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.526133	0.64860	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.52295	0.67;0.67	5.67	4.5	0.54988	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.047928	0.85682	D	0.000000	T	0.71533	0.3351	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76321	-0.3002	10	0.87932	D	0	-16.8553	12.9487	0.58388	0.0:0.0:0.1355:0.8645	.	541	Q9NWL6	ASND1_HUMAN	N	541	ENSP00000260952:I541N;ENSP00000406790:I541N	ENSP00000260952:I541N	I	+	2	0	ASNSD1	190240892	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.698000	0.84413	0.958000	0.37956	0.533000	0.62120	ATT		0.373	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		A	190532647	T	A	190532647	3	1	204	1	0	0	0	0	1	0	0	0	1049	1493	52	5	1628	5	ASNSD1	2	190532647	Missense_Mutation	SNP	T	TCGA-B0-5399-01A-01D-1501-10	76699818	190532647	52666726	8	12473											
STAT1	6772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191864399	191864399	+	Missense_Mutation	SNP	T	T	G	rs387906764		TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr2:191864399T>G	ENST00000361099.3	-	7	881	c.494A>C	c.(493-495)gAt>gCt	p.D165A	STAT1_ENST00000392323.2_Missense_Mutation_p.D167A|STAT1_ENST00000540176.1_Missense_Mutation_p.D165A|STAT1_ENST00000392322.3_Missense_Mutation_p.D165A|STAT1_ENST00000409465.1_Missense_Mutation_p.D165A	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	165			D -> G (in CANDF7; gain of function mutation associated with increased STAT1 phosphorylation due to impaired nuclear dephosphorylation). {ECO:0000269|PubMed:21727188}.|D -> H (in CANDF7). {ECO:0000269|PubMed:21727188}.		apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.D165A(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			ATCTTGTAAATCTTCCAGGCT	0.388																																																1	Substitution - Missense(1)	kidney(1)											136	126	129					2																	191864399		2203	4299	6502	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.494A>C	2.37:g.191864399T>G	ENSP00000354394:p.Asp165Ala		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	t	26.1	4.704151	0.88924	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000544783;ENST00000424722	T;T;D;T;T;D	0.84223	0.03;0.03;-1.82;0.03;0.03;-1.82	5.79	5.79	0.91817	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.088198	0.85682	D	0.000000	D	0.90957	0.7157	M	0.85197	2.74	0.58432	D	0.999999	P;B	0.38280	0.625;0.084	P;B	0.49683	0.619;0.259	D	0.90615	0.4555	10	0.42905	T	0.14	-27.1384	16.1354	0.81481	0.0:0.0:0.0:1.0	.	165;165	P42224-2;P42224	.;STAT1_HUMAN	A	165;165;165;165;167;73;165	ENSP00000354394:D165A;ENSP00000386244:D165A;ENSP00000438703:D165A;ENSP00000376136:D165A;ENSP00000376137:D167A;ENSP00000402548:D165A	ENSP00000354394:D165A	D	-	2	0	STAT1	191572644	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	7.816000	0.86201	2.207000	0.71202	0.533000	0.62120	GAT		0.388	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		G	191864399	T	G	191864399	3	3	204	1	0	0	0	0	1	0	0	0	15269	1435	50	5	1838	5	STAT1	2	191864399	Missense_Mutation	SNP	T	TCGA-B0-5399-01A-01D-1501-10	1331752	191864399	51334974	9	12474											
SETD2	29072	broad.mit.edu	37	3	47127737	47127737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr3:47127737C>T	ENST00000409792.3	-	11	5387	c.5345G>A	c.(5344-5346)tGg>tAg	p.W1782*	SETD2_ENST00000492397.1_5'Flank|snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1782					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.W1279*(1)|p.W1782*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTCTGCCATCCAGATCCACAA	0.478			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											138	120	126					3																	47127737		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5345G>A	3.37:g.47127737C>T	ENSP00000386759:p.Trp1782*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	45	11.694268	0.99592	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3513	0.94387	0.0:1.0:0.0:0.0	.	.	.	.	X	1782	.	ENSP00000386759:W1782X	W	-	2	0	SETD2	47102741	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.737000	0.68606	2.571000	0.86741	0.650000	0.86243	TGG		0.478	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47127737	C	T	47127737	4	4	204	1	0	0	0	0	0	1	0	0	14137	595	21	2	2393	2	SETD2	3	47127737	Nonsense_Mutation	SNP	C	TCGA-B0-5399-01A-01D-1501-10		47127737	150894693	10	12475											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47164613	47164613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr3:47164613C>A	ENST00000409792.3	-	3	1555	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	505					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E2*(1)|p.E505*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTCTTCTTTCCATCTCTAAG	0.388			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											63	59	60					3																	47164613		2118	4090	6208	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1513G>T	3.37:g.47164613C>A	ENSP00000386759:p.Glu505*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	36	5.846444	0.97016	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.836	0.92162	0.0:1.0:0.0:0.0	.	.	.	.	X	505;505;505;461	.	ENSP00000386759:E505X	E	-	1	0	SETD2	47139617	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.278000	0.78587	2.754000	0.94517	0.650000	0.86243	GAA		0.388	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47164613	C	A	47164613	4	1	204	1	0	0	0	0	0	1	0	0	14137	864	30	4	6257	4	SETD2	3	47164613	Nonsense_Mutation	SNP	C	TCGA-B0-5399-01A-01D-1501-10	36876	47164613	150857817	11	12476											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52668817	52668817	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr3:52668817C>A	ENST00000296302.7	-	11	1103	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E368*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E368*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E368*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E368*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E368*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E336*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E368*			Q86U86	PB1_HUMAN	polybromo 1	368					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E368*(4)|p.E336*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GACTCTCCCTCTTCATAGCGT	0.373			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											72	70	71					3																	52668817		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1102G>T	3.37:g.52668817C>A	ENSP00000296302:p.Glu368*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	38	7.060397	0.98036	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-22.6802	20.2566	0.98424	0.0:1.0:0.0:0.0	.	.	.	.	X	336;368;368;368;368;368;368;368;368;312	.	ENSP00000296302:E368X	E	-	1	0	PBRM1	52643857	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.793000	0.96121	0.561000	0.74099	GAG		0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52668817	C	A	52668817	4	1	204	1	0	0	0	0	0	1	0	0	11493	922	32	4	3878	4	PBRM1	3	52668817	Nonsense_Mutation	SNP	C	TCGA-B0-5399-01A-01D-1501-10	5504204	52668817	145353613	12	12477											
ATP13A5	344905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	193052840	193052840	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr3:193052840G>C	ENST00000342358.4	-	10	1109	c.992C>G	c.(991-993)aCt>aGt	p.T331S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	331						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.T331S(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAAGGCATAGTGTTCTCCAT	0.443																																																1	Substitution - Missense(1)	kidney(1)											195	182	186					3																	193052840		2203	4300	6503	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.992C>G	3.37:g.193052840G>C	ENSP00000341942:p.Thr331Ser		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.825186	0.00589	.	.	ENSG00000187527	ENST00000342358	D	0.84516	-1.86	6.11	3.28	0.37604	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.335977	0.29459	N	0.012093	T	0.73489	0.3593	N	0.12569	0.235	0.09310	N	1	B	0.25105	0.118	B	0.32393	0.145	T	0.53215	-0.8470	10	0.08381	T	0.77	-18.0096	16.8057	0.85626	0.0:0.3602:0.6398:0.0	.	331	Q4VNC0	AT135_HUMAN	S	331	ENSP00000341942:T331S	ENSP00000341942:T331S	T	-	2	0	ATP13A5	194535534	0.001000	0.12720	0.167000	0.22817	0.042000	0.13812	0.722000	0.25925	0.915000	0.36847	-0.127000	0.14921	ACT		0.443	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		C	193052840	G	C	193052840	3	2	204	1	0	0	0	0	1	0	0	0	1127	1029	36	4	2746	4	ATP13A5	3	193052840	Missense_Mutation	SNP	G	TCGA-B0-5399-01A-01D-1501-10	140384023	193052840	4969590	13	12478											
C5orf44	80006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	64960063	64960063	+	Splice_Site	SNP	G	G	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr5:64960063G>A	ENST00000399438.3	+	12	1343		c.e12-1		TRAPPC13_ENST00000438419.2_Missense_Mutation_p.S334N|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.S328N|TRAPPC13_ENST00000231526.4_Splice_Site|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.S335N	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13									p.?(2)									TCCTCCAGCAGTGAAAGGACT	0.393																																																2	Unknown(2)	kidney(2)											152	148	150					5																	64960063		1857	4098	5955	SO:0001630	splice_region_variant	80006				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"Trs65-related"		"chromosome 5 open reading frame 44"	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.999-1G>A	5.37:g.64960063G>A			Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	ENST00000399438.3	37	CCDS47222.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.228204|4.228204	0.79576|0.79576	.|.	.|.	ENSG00000113597|ENSG00000113597	ENST00000399438;ENST00000231526|ENST00000438419;ENST00000505553;ENST00000545191	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73791	.|0.3632	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.76575	.|0.98;0.988	.|T	.|0.69698	.|-0.5075	.|8	.|0.37606	.|T	.|0.19	.|-23.27	20.3368|20.3368	0.98748|0.98748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|328;334	.|A5PLN9-4;A5PLN9-5	.|.;.	.|N	-1|334;328;335	.|.	.|ENSP00000409231:S334N	.|S	+|+	.|2	.|0	C5orf44|C5orf44	64995819|64995819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.407000|9.407000	0.97325|0.97325	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	.|AGT		0.393	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941	Intron	A	64960063	G	A	64960063	5	1	204	1	0	0	0	0	0	0	1	0	2305	1043	36	2	1047	2	C5orf44	5	64960063	Splice_Site	SNP	G	TCGA-B0-5399-01A-01D-1501-10		64960063	115955197	14	12479	92	2									
C5orf44	80006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	64960070	64960070	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr5:64960070G>T	ENST00000399438.3	+	12	1350	c.1005G>T	c.(1003-1005)agG>agT	p.R335S	TRAPPC13_ENST00000438419.2_Missense_Mutation_p.R336S|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.R330S|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.R329S|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.R337S	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	335								p.R335S(2)									GCAGTGAAAGGACTATGGATC	0.398																																																2	Substitution - Missense(2)	kidney(2)											157	153	154					5																	64960070		1862	4104	5966	SO:0001583	missense	80006				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"Trs65-related"		"chromosome 5 open reading frame 44"	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.1005G>T	5.37:g.64960070G>T	ENSP00000382367:p.Arg335Ser		Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	ENST00000399438.3	37	CCDS47222.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950102	0.73787	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	5.93	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.65815	0.995;0.995;0.995;0.992	D;D;D;P	0.66847	0.947;0.947;0.947;0.885	T	0.79478	-0.1787	9	0.72032	D	0.01	-29.7394	11.2085	0.48784	0.1395:0.0:0.8605:0.0	.	330;329;336;335	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	S	335;336;329;330;337	.	ENSP00000231526:R329S	R	+	3	2	C5orf44	64995826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.735000	0.47377	1.517000	0.48917	0.655000	0.94253	AGG		0.398	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941		T	64960070	G	T	64960070	3	4	204	1	0	0	0	0	1	0	0	0	2305	1165	41	4	1054	4	C5orf44	5	64960070	Missense_Mutation	SNP	G	TCGA-B0-5399-01A-01D-1501-10	7	64960070	115955190	15	12480	92	2									
PCYOX1L	78991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	148742273	148742273	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr5:148742273G>C	ENST00000274569.4	+	2	224	c.162G>C	c.(160-162)caG>caC	p.Q54H	PCYOX1L_ENST00000514349.1_5'UTR	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	54					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)	p.Q54H(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGGTGCAGATCGACGTGT	0.622																																					Ovarian(62;1136 1477 27277 27495)											1	Substitution - Missense(1)	kidney(1)											96	95	95					5																	148742273		2203	4300	6503	SO:0001583	missense	78991				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.162G>C	5.37:g.148742273G>C	ENSP00000274569:p.Gln54His		Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445923	0.25987	.	.	ENSG00000145882	ENST00000274569	T	0.09911	2.93	5.23	4.34	0.51931	.	0.134965	0.52532	D	0.000076	T	0.19248	0.0462	L	0.39692	1.235	0.80722	D	1	D	0.57571	0.98	P	0.57425	0.82	T	0.00722	-1.1594	10	0.49607	T	0.09	-18.5976	13.2269	0.59919	0.0783:0.0:0.9217:0.0	.	54	Q8NBM8	PCYXL_HUMAN	H	54	ENSP00000274569:Q54H	ENSP00000274569:Q54H	Q	+	3	2	PCYOX1L	148722466	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.501000	0.60393	1.304000	0.44892	0.561000	0.74099	CAG		0.622	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		C	148742273	G	C	148742273	3	2	204	1	0	0	0	0	1	0	0	0	11611	933	33	4	168	4	PCYOX1L	5	148742273	Missense_Mutation	SNP	G	TCGA-B0-5399-01A-01D-1501-10	83782203	148742273	32172987	16	12481											
ARSI	340075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149677720	149677720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr5:149677720delC	ENST00000328668.7	-	2	1346	c.767delG	c.(766-768)ggcfs	p.G256fs		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	256					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCACATTGCCCATGGTGCG	0.612																																																0													51	47	49					5																	149677720		2203	4300	6503	SO:0001589	frameshift_variant	340075			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.767delG	5.37:g.149677720delC	ENSP00000333395:p.Gly256fs		A1L3B0|B3KV22|B7XD03	Frame_Shift_Del	DEL	ENST00000328668.7	37	CCDS34275.1																																																																																				0.612	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		-	149677720	C	-	149677720	7	5	204	1	0	1	0	1	0	0	0	0	994	739	26	0	946	0	ARSI	5	149677720	Frame_Shift_Del	DEL	C	TCGA-B0-5399-01A-01D-1501-10	935447	149677720	31237540	17	12482											
FGFR4	2264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176520705	176520705	+	Missense_Mutation	SNP	G	G	T	rs141384037		TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr5:176520705G>T	ENST00000292408.4	+	11	1693	c.1448G>T	c.(1447-1449)cGt>cTt	p.R483L	FGFR4_ENST00000393648.2_Missense_Mutation_p.R415L|FGFR4_ENST00000393637.1_Missense_Mutation_p.R443L|FGFR4_ENST00000292410.3_Missense_Mutation_p.R443L|FGFR4_ENST00000502906.1_Missense_Mutation_p.R483L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	483	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)	p.R443L(1)|p.R483L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CAGGTAGTACGTGCAGAGGCC	0.627										TSP Lung(9;0.080)																																						2	Substitution - Missense(2)	kidney(2)											60	50	53					5																	176520705		2203	4300	6503	SO:0001583	missense	2264			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1448G>T	5.37:g.176520705G>T	ENSP00000292408:p.Arg483Leu		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	8.419	0.845927	0.16963	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69	4.48	4.48	0.54585	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.218876	0.44483	D	0.000456	T	0.80358	0.4608	N	0.03324	-0.35	0.20196	N	0.999923	B;B;P	0.49862	0.1;0.082;0.929	B;B;B	0.42214	0.041;0.024;0.38	T	0.74321	-0.3703	10	0.33940	T	0.23	.	16.9773	0.86316	0.0:0.0:1.0:0.0	.	415;443;483	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	L	483;415;483;443;443;711	ENSP00000292408:R483L;ENSP00000377259:R415L;ENSP00000424960:R483L;ENSP00000292410:R443L;ENSP00000377254:R443L	ENSP00000292408:R483L	R	+	2	0	FGFR4	176453311	0.862000	0.29867	0.192000	0.23308	0.127000	0.20565	4.447000	0.60020	2.332000	0.79248	0.462000	0.41574	CGT		0.627	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			T	176520705	G	T	176520705	3	4	204	1	0	0	0	0	1	0	0	0	5870	1145	40	4	1556	4	FGFR4	5	176520705	Missense_Mutation	SNP	G	TCGA-B0-5399-01A-01D-1501-10	26842985	176520705	4394555	18	12483											
ROS1	6098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	117647553	117647553	+	Silent	SNP	C	C	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr6:117647553C>T	ENST00000368508.3	-	33	5589	c.5391G>A	c.(5389-5391)caG>caA	p.Q1797Q	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.Q1791Q	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1797	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q1797Q(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATTCTGGTTCTGTAAATTAT	0.318			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	2	Substitution - coding silent(2)	kidney(2)											63	61	62					6																	117647553		2202	4296	6498	SO:0001819	synonymous_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5391G>A	6.37:g.117647553C>T			Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	CCDS5116.1																																																																																				0.318	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117647553	C	T	117647553	2	4	204	1	0	0	0	0	0	0	0	1	13537	912	32	2		2	ROS1	6	117647553	Silent	SNP	C	TCGA-B0-5399-01A-01D-1501-10		117647553	53467514	19	12484											
SAMD5	389432	broad.mit.edu	37	6	147830411	147830411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr6:147830411delC	ENST00000367474.1	+	1	349	c.347delC	c.(346-348)gccfs	p.A116fs		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	116													Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		CACACGACCGCCCCCCGCAGC	0.741																																																0													15	14	15					6																	147830411		2194	4295	6489	SO:0001589	frameshift_variant	389432			AL354880	CCDS34548.1	6q24.3	2013-01-10			ENSG00000203727	ENSG00000203727		"Sterile alpha motif (SAM) domain containing"	21180	protein-coding gene	gene with protein product							Standard	NM_001030060		Approved	dJ875H10.1	uc003qmc.2	Q5TGI4	OTTHUMG00000015767	ENST00000367474.1:c.347delC	6.37:g.147830411delC	ENSP00000356444:p.Ala116fs			Frame_Shift_Del	DEL	ENST00000367474.1	37	CCDS34548.1																																																																																				0.741	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042610.1	NM_001030060		-	147830411	C	-	147830411	7	5	204	1	0	1	0	1	0	0	0	0	13829	739	26	0	349	0	SAMD5	6	147830411	Frame_Shift_Del	DEL	C	TCGA-B0-5399-01A-01D-1501-10	30182858	147830411	23284656	20	12485											
ULBP2	80328	broad.mit.edu;hgsc.bcm.edu	37	6	150267506	150267506	+	Splice_Site	SNP	A	A	G	rs372949085		TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr6:150267506A>G	ENST00000367351.3	+	3	422		c.e3-1			NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2						antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)	p.?(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TGATGGGGGCAGAACCCCTCA	0.512																																																1	Unknown(1)	kidney(1)											72	69	70					6																	150267506		2202	4281	6483	SO:0001630	splice_region_variant	80328			AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.350-1A>G	6.37:g.150267506A>G			Q5VUN4	Splice_Site	SNP	ENST00000367351.3	37	CCDS5222.1	.	.	.	.	.	.	.	.	.	.	.	8.254	0.809671	0.16537	.	.	ENSG00000131015	ENST00000367351	.	.	.	2.26	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.30082	N	0.809087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4136	0.21704	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ULBP2	150309199	0.982000	0.34865	0.010000	0.14722	0.241000	0.25554	2.886000	0.48578	1.085000	0.41206	0.155000	0.16302	.		0.512	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1		Intron	G	150267506	A	G	150267506	5	3	204	1	0	0	0	0	0	0	1	0	16978	202	7	3	358	3	ULBP2	6	150267506	Splice_Site	SNP	A	TCGA-B0-5399-01A-01D-1501-10	2437095	150267506	20847561	21	12486											
DIP2C	22982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	375379	375379	+	Silent	SNP	G	G	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr10:375379G>T	ENST00000280886.6	-	30	3834	c.3747C>A	c.(3745-3747)tcC>tcA	p.S1249S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1249						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S1249S(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTACCTTGAGGGACTCTGTTT	0.547																																																1	Substitution - coding silent(1)	kidney(1)											41	37	38					10																	375379		2203	4300	6503	SO:0001819	synonymous_variant	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3747C>A	10.37:g.375379G>T			B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	7.123	0.578341	0.13686	.	.	ENSG00000151240	ENST00000434695	.	.	.	5.85	0.321	0.15883	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21930	-1.0231	4	.	.	.	-29.0172	1.421	0.02312	0.1591:0.2128:0.3392:0.2889	.	.	.	.	T	55	.	.	P	-	1	0	DIP2C	365379	0.023000	0.18921	0.994000	0.49952	0.573000	0.36030	-0.959000	0.03853	-0.135000	0.11495	-0.165000	0.13383	CCT		0.547	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	375379	G	T	375379	2	4	204	1	0	0	0	0	0	0	0	1	4531	1219	43	4		4	DIP2C	10	375379	Silent	SNP	G	TCGA-B0-5399-01A-01D-1501-10		375379	135159368	22	12487											
TAF5	6877	broad.mit.edu;hgsc.bcm.edu	37	10	105139365	105139365	+	Splice_Site	SNP	G	G	C			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr10:105139365G>C	ENST00000369839.3	+	4	1137	c.1114G>C	c.(1114-1116)Gta>Cta	p.V372L	TAF5_ENST00000351396.4_Splice_Site_p.V372L	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	372					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V372L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGACTTGTAGGTATTTTTTGG	0.289																																																1	Substitution - Missense(1)	kidney(1)											37	38	38					10																	105139365		2201	4296	6497	SO:0001630	splice_region_variant	6877			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1114-1G>C	10.37:g.105139365G>C			A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122642	0.56613	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.59906	0.5;0.23	5.46	5.46	0.80206	.	0.054803	0.64402	D	0.000001	T	0.52338	0.1728	M	0.74881	2.28	0.80722	D	1	P;P	0.37441	0.496;0.595	B;B	0.30572	0.117;0.079	T	0.55742	-0.8093	9	.	.	.	-12.8539	9.907	0.41381	0.1517:0.0:0.8483:0.0	.	372;372	Q15542-2;Q15542	.;TAF5_HUMAN	L	372	ENSP00000358854:V372L;ENSP00000311024:V372L	.	V	+	1	0	TAF5	105129355	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.502000	0.66956	2.559000	0.86315	0.650000	0.86243	GTA		0.289	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1		Missense_Mutation	C	105139365	G	C	105139365	5	2	204	1	0	0	0	0	0	0	1	0	15533	1275	44	4	1128	4	TAF5	10	105139365	Splice_Site	SNP	G	TCGA-B0-5399-01A-01D-1501-10	104763986	105139365	30395382	23	12488											
OR52J3	119679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5068523	5068523	+	Silent	SNP	A	A	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr11:5068523A>T	ENST00000380370.1	+	1	768	c.768A>T	c.(766-768)tcA>tcT	p.S256S		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S256S(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATCCCTTCAGTCTTCTCTT	0.458																																																1	Substitution - coding silent(1)	kidney(1)											278	251	260					11																	5068523		2201	4298	6499	SO:0001819	synonymous_variant	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.768A>T	11.37:g.5068523A>T			Q6IFE4	Silent	SNP	ENST00000380370.1	37	CCDS31370.1																																																																																				0.458	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		T	5068523	A	T	5068523	2	4	204	1	0	0	0	0	0	0	0	1	11124	175	7	5		5	OR52J3	11	5068523	Silent	SNP	A	TCGA-B0-5399-01A-01D-1501-10		5068523	129937993	24	12489											
IGSF22	283284	broad.mit.edu	37	11	18738394	18738394	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr11:18738394G>T	ENST00000513874.1	-	10	1266	c.1127C>A	c.(1126-1128)aCg>aAg	p.T376K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	376								p.T376K(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCGGACACCGTGATTTCATA	0.512																																																2	Substitution - Missense(2)	kidney(2)											250	246	247					11																	18738394		2074	4193	6267	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1127C>A	11.37:g.18738394G>T	ENSP00000421191:p.Thr376Lys		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640023	0.29157	.	.	ENSG00000179057	ENST00000513874	T	0.66815	-0.23	5.09	0.954	0.19595	.	2.103270	0.04210	U	0.331605	T	0.56920	0.2018	L	0.33293	1	0.09310	N	1	B	0.32620	0.378	B	0.36092	0.217	T	0.43523	-0.9386	10	0.27785	T	0.31	.	6.9198	0.24380	0.5876:0.0:0.4124:0.0	.	376	D6RGV7	.	K	376	ENSP00000421191:T376K	ENSP00000322422:T376K	T	-	2	0	IGSF22	18694970	0.000000	0.05858	0.620000	0.29132	0.883000	0.51084	0.406000	0.21032	0.133000	0.18654	-0.150000	0.13652	ACG		0.512	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		T	18738394	G	T	18738394	3	4	204	1	0	0	0	0	1	0	0	0	7602	1145	40	4	2909	4	IGSF22	11	18738394	Missense_Mutation	SNP	G	TCGA-B0-5399-01A-01D-1501-10	13669871	18738394	116268122	25	12490											
SYVN1	84447	hgsc.bcm.edu	37	11	64897535	64897536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr11:64897535_64897536insC	ENST00000377190.3	-	13	1440_1441	c.1346_1347insG	c.(1345-1347)ggcfs	p.G449fs	SYVN1_ENST00000307289.6_Frame_Shift_Ins_p.G397fs|SYVN1_ENST00000294256.8_Frame_Shift_Ins_p.G448fs|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Frame_Shift_Ins_p.G448fs	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	449	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CAGGGGCAGGGCCAGCCTCTGG	0.644																																																0																																										SO:0001589	frameshift_variant	84447			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1347dupG	11.37:g.64897537_64897537dupC	ENSP00000366395:p.Gly449fs		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Frame_Shift_Ins	INS	ENST00000377190.3	37	CCDS31605.1																																																																																				0.644	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		C	64897536	-	C	64897535	7	5	204	1	0	1	1	0	0	0	0	0	15492	1190	42	0	522	0	SYVN1	11	64897535	Frame_Shift_Ins	INS	-	TCGA-B0-5399-01A-01D-1501-10	46159141	64897535	70108981	26	12491											
FZD4	8322	hgsc.bcm.edu;ucsc.edu	37	11	86663464	86663464	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr11:86663464T>C	ENST00000531380.1	-	2	639	c.334A>G	c.(334-336)Atc>Gtc	p.I112V	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	112	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAATGGGGATGTTGATCTTC	0.448																																																0													115	124	121					11																	86663464		2201	4299	6500	SO:0001583	missense	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.334A>G	11.37:g.86663464T>C	ENSP00000434034:p.Ile112Val		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264958	0.40095	.	.	ENSG00000174804	ENST00000531380	T	0.74947	-0.89	5.82	4.69	0.59074	Frizzled domain (5);	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	N	0.08118	0	0.53688	D	0.999975	B	0.13594	0.008	B	0.23716	0.048	T	0.44097	-0.9350	9	.	.	.	.	11.8577	0.52449	0.0:0.0682:0.0:0.9317	.	112	Q9ULV1	FZD4_HUMAN	V	112	ENSP00000434034:I112V	.	I	-	1	0	FZD4	86341112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.139000	0.58024	1.033000	0.39918	0.533000	0.62120	ATC		0.448	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		C	86663464	T	C	86663464	3	2	204	1	0	0	0	0	1	0	0	0	6134	1464	51	3	1283	3	FZD4	11	86663464	Missense_Mutation	SNP	T	TCGA-B0-5399-01A-01D-1501-10	21765929	86663464	48343052	27	12492											
B4GALNT3	283358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	657232	657232	+	Silent	SNP	G	G	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr12:657232G>A	ENST00000266383.5	+	8	763	c.750G>A	c.(748-750)aaG>aaA	p.K250K	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	250					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.K250K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGCTGCACAAGCAGAATGAGG	0.632																																																1	Substitution - coding silent(1)	kidney(1)											66	60	63					12																	657232		2203	4300	6503	SO:0001819	synonymous_variant	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.750G>A	12.37:g.657232G>A			Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	CCDS8504.1																																																																																				0.632	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		A	657232	G	A	657232	2	1	204	1	0	0	0	0	0	0	0	1	1268	962	34	2		2	B4GALNT3	12	657232	Silent	SNP	G	TCGA-B0-5399-01A-01D-1501-10		657232	133194663	28	12493											
CLEC4C	170482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7890118	7890118	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr12:7890118A>T	ENST00000542353.1	-	5	778	c.288T>A	c.(286-288)ttT>ttA	p.F96L	CLEC4C_ENST00000360345.3_Missense_Mutation_p.F96L|CLEC4C_ENST00000354629.5_Missense_Mutation_p.F65L|CLEC4C_ENST00000540085.1_Missense_Mutation_p.F65L	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	96	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.F96L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CAGTAGAAATAAAGTAGCAAC	0.418																																																1	Substitution - Missense(1)	kidney(1)											92	92	92					12																	7890118		2203	4300	6503	SO:0001583	missense	170482			AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.288T>A	12.37:g.7890118A>T	ENSP00000440428:p.Phe96Leu		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.382390	0.24944	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345;ENST00000537530;ENST00000543765	T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37	2.62	1.44	0.22558	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	.	.	.	.	T	0.12178	0.0296	L	0.43598	1.365	0.24118	N	0.995814	B;P	0.43519	0.193;0.809	B;B	0.37943	0.089;0.261	T	0.17198	-1.0377	9	0.38643	T	0.18	.	4.7469	0.13042	0.8442:0.0:0.1558:0.0	.	65;96	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	L	96;65;65;96;18;56	ENSP00000440428:F96L;ENSP00000346648:F65L;ENSP00000445338:F65L;ENSP00000353500:F96L;ENSP00000438649:F18L;ENSP00000442457:F56L	ENSP00000346648:F65L	F	-	3	2	CLEC4C	7781385	0.018000	0.18449	0.666000	0.29783	0.136000	0.21042	-0.221000	0.09202	0.410000	0.25675	0.491000	0.48974	TTT		0.418	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		T	7890118	A	T	7890118	3	4	204	1	0	0	0	0	1	0	0	0	3515	359	13	5	365	5	CLEC4C	12	7890118	Missense_Mutation	SNP	A	TCGA-B0-5399-01A-01D-1501-10	7232886	7890118	125961777	29	12494											
ABCC9	10060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	22068794	22068794	+	Silent	SNP	G	G	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr12:22068794G>T	ENST00000261201.4	-	5	623	c.624C>A	c.(622-624)ctC>ctA	p.L208L	ABCC9_ENST00000345162.2_Silent_p.L208L|ABCC9_ENST00000261200.4_Silent_p.L208L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	208					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.L208L(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCAGATCCTGGAGGTCTTCAG	0.368																																																2	Substitution - coding silent(2)	kidney(2)											61	59	60					12																	22068794		2203	4300	6503	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.624C>A	12.37:g.22068794G>T			O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		T	22068794	G	T	22068794	2	4	204	1	0	0	0	0	0	0	0	1	59	1161	41	4		4	ABCC9	12	22068794	Silent	SNP	G	TCGA-B0-5399-01A-01D-1501-10	14178676	22068794	111783101	30	12495											
ALDH2	217	broad.mit.edu;hgsc.bcm.edu	37	12	112221085	112221085	+	Missense_Mutation	SNP	G	G	A	rs376099569		TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr12:112221085G>A	ENST00000261733.2	+	3	404	c.343G>A	c.(343-345)Gac>Aac	p.D115N	ALDH2_ENST00000416293.3_Intron|RP11-162P23.2_ENST00000546840.2_Silent_p.G111G	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	115					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.D115N(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	GATCGAGCGGGACCGGACCTA	0.662			T	HMGA2	leiomyoma								g|||	1	0.000199681	0.0	0.0	5008	,	,		16748	0.0		0.001	False		,,,				2504	0.0						Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	2	Substitution - Missense(2)	kidney(2)							ASN/ASP,	1,4405	2.1+/-5.4	0,1,2202	42	47	45		343,	5.6	1	12		45	0,8600		0,0,4300	no	missense,intron	ALDH2	NM_000690.3,NM_001204889.1	23,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,	115/518,	112221085	1,13005	2203	4300	6503	SO:0001583	missense	217			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.343G>A	12.37:g.112221085G>A	ENSP00000261733:p.Asp115Asn		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	g	33	5.283351	0.95489	2.27E-4	0.0	ENSG00000257767;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000261733;ENST00000553044	T	0.75260	-0.92	5.64	5.64	0.86602	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	N	0.03154	-0.405	0.80722	D	1	B;B	0.32507	0.373;0.131	B;B	0.34931	0.192;0.069	T	0.60198	-0.7310	10	0.36615	T	0.2	.	19.7095	0.96089	0.0:0.0:1.0:0.0	.	115;115	F8VXI5;P05091	.;ALDH2_HUMAN	N	96;115;115	ENSP00000261733:D115N	ENSP00000261733:D115N	D	+	1	0	ALDH2;RP11-162P23.2	110705468	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	7.498000	0.81546	2.655000	0.90218	0.651000	0.88453	GAC		0.662	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		A	112221085	G	A	112221085	3	1	204	1	0	0	0	0	1	0	0	0	496	1174	41	2	353	2	ALDH2	12	112221085	Missense_Mutation	SNP	G	TCGA-B0-5399-01A-01D-1501-10	90152291	112221085	21630810	31	12496											
GCN1L1	10985	broad.mit.edu;ucsc.edu	37	12	120574466	120574466	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr12:120574466G>A	ENST00000300648.6	-	51	6860	c.6848C>T	c.(6847-6849)gCa>gTa	p.A2283V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2283					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.A2283V(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTTTGGCTGCCTCCTCCTT	0.602																																																1	Substitution - Missense(1)	kidney(1)											55	60	58					12																	120574466		2055	4188	6243	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6848C>T	12.37:g.120574466G>A	ENSP00000300648:p.Ala2283Val		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	35	5.485811	0.96323	.	.	ENSG00000089154	ENST00000300648	T	0.65364	-0.15	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84520	0.0627	10	0.87932	D	0	.	19.8555	0.96756	0.0:0.0:1.0:0.0	.	2283	Q92616	GCN1L_HUMAN	V	2283	ENSP00000300648:A2283V	ENSP00000300648:A2283V	A	-	2	0	GCN1L1	119058849	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	9.229000	0.95273	2.697000	0.92050	0.591000	0.81541	GCA		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			A	120574466	G	A	120574466	3	1	204	1	0	0	0	0	1	0	0	0	6301	1319	46	2	1199	2	GCN1L1	12	120574466	Missense_Mutation	SNP	G	TCGA-B0-5399-01A-01D-1501-10	8353381	120574466	13277429	32	12497											
PDS5B	23047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33275559	33275559	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr13:33275559G>A	ENST00000315596.10	+	17	2026	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	614					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.D614N(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TGTGCACATAGATACCGAATC	0.388																																																1	Substitution - Missense(1)	kidney(1)											82	77	78					13																	33275559		1836	4079	5915	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1840G>A	13.37:g.33275559G>A	ENSP00000313851:p.Asp614Asn		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174633	0.94807	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.18	5.18	0.71444	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	M	0.74647	2.275	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.70908	-0.4744	9	0.02654	T	1	-17.6639	19.0456	0.93018	0.0:0.0:1.0:0.0	.	614	Q9NTI5	PDS5B_HUMAN	N	614	.	ENSP00000313851:D614N	D	+	1	0	PDS5B	32173559	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.700000	0.98707	2.580000	0.87095	0.655000	0.94253	GAT		0.388	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		A	33275559	G	A	33275559	3	1	204	1	0	0	0	0	1	0	0	0	11694	942	33	2	1902	2	PDS5B	13	33275559	Missense_Mutation	SNP	G	TCGA-B0-5399-01A-01D-1501-10		33275559	81894319	33	12498											
IFI27L2	83982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94594972	94594972	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr14:94594972C>A	ENST00000238609.3	-	3	177	c.78G>T	c.(76-78)atG>atT	p.M26I	IFI27L2_ENST00000556727.1_Start_Codon_SNP_p.M1I	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2	26						integral component of membrane (GO:0016021)		p.M26I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						CAGTGAAGCCCATGGCACTGA	0.657																																																1	Substitution - Missense(1)	kidney(1)											50	39	42					14																	94594972		2203	4300	6503	SO:0001583	missense	83982			AF208232	CCDS9920.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000119632			19753	protein-coding gene	gene with protein product		611319	"family with sequence similarity 14, member A"	FAM14A			Standard	NM_032036		Approved	TLH29	uc001ycq.3	Q9H2X8		ENST00000238609.3:c.78G>T	14.37:g.94594972C>A	ENSP00000238609:p.Met26Ile		Q8TBD7|Q9NYL0	Missense_Mutation	SNP	ENST00000238609.3	37	CCDS9920.1	.	.	.	.	.	.	.	.	.	.	C	5.266	0.234591	0.09969	.	.	ENSG00000119632	ENST00000238609;ENST00000556727	T;T	0.27256	1.68;1.68	4.01	2.09	0.27110	.	0.691372	0.13147	U	0.410219	T	0.16727	0.0402	N	0.26042	0.785	0.34878	D	0.744301	B	0.02656	0.0	B	0.04013	0.001	T	0.11251	-1.0595	10	0.44086	T	0.13	.	7.2888	0.26354	0.1928:0.6205:0.1866:0.0	.	26	Q9H2X8	I27L2_HUMAN	I	26;1	ENSP00000238609:M26I;ENSP00000451717:M1I	ENSP00000238609:M26I	M	-	3	0	IFI27L2	93664725	0.000000	0.05858	0.693000	0.30195	0.026000	0.11368	-1.102000	0.03332	0.378000	0.24764	0.655000	0.94253	ATG		0.657	IFI27L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412935.1	NM_032036		A	94594972	C	A	94594972	3	1	204	1	0	0	0	0	1	0	0	0	7516	594	21	4	322	4	IFI27L2	14	94594972	Missense_Mutation	SNP	C	TCGA-B0-5399-01A-01D-1501-10		94594972	12754568	34	12499											
TLN2	83660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	62978977	62978977	+	Silent	SNP	A	A	G			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr15:62978977A>G	ENST00000561311.1	+	11	1325	c.1095A>G	c.(1093-1095)tcA>tcG	p.S365S	RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Silent_p.S365S			Q9Y4G6	TLN2_HUMAN	talin 2	365	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with PIP5K1C. {ECO:0000250}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S365S(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGGCAGCCTCACCCAAGAGCT	0.582																																																1	Substitution - coding silent(1)	kidney(1)											70	53	59					15																	62978977		2203	4300	6503	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1095A>G	15.37:g.62978977A>G			A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																				0.582	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			G	62978977	A	G	62978977	2	3	204	1	0	0	0	0	0	0	0	1	15953	146	6	3		3	TLN2	15	62978977	Silent	SNP	A	TCGA-B0-5399-01A-01D-1501-10		62978977	39552415	35	12500											
SETD6	79918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58550759	58550759	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr16:58550759C>G	ENST00000219315.4	+	5	769	c.719C>G	c.(718-720)tCc>tGc	p.S240C	SETD6_ENST00000310682.2_Missense_Mutation_p.S216C|SETD6_ENST00000394266.4_Missense_Mutation_p.S171C|SETD6_ENST00000418480.1_3'UTR			Q8TBK2	SETD6_HUMAN	SET domain containing 6	240	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)	p.S216C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GAGCCCAACTCCCCCGTGATG	0.532																																																1	Substitution - Missense(1)	kidney(1)											192	192	192					16																	58550759		2198	4300	6498	SO:0001583	missense	79918			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.719C>G	16.37:g.58550759C>G	ENSP00000219315:p.Ser240Cys		A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137469	0.77775	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	D;D;D	0.81908	-1.55;-1.55;-1.55	5.42	5.42	0.78866	SET domain (2);	0.237430	0.42548	D	0.000700	D	0.85691	0.5755	L	0.39147	1.195	0.37610	D	0.920887	D;D;D	0.58970	0.97;0.984;0.983	P;P;P	0.57152	0.701;0.814;0.657	D	0.87476	0.2417	10	0.49607	T	0.09	-8.8586	18.2026	0.89843	0.0:1.0:0.0:0.0	.	216;240;216	E9PC53;Q8TBK2;Q8TBK2-2	.;SETD6_HUMAN;.	C	216;171;240	ENSP00000310082:S216C;ENSP00000377809:S171C;ENSP00000219315:S240C	ENSP00000219315:S240C	S	+	2	0	SETD6	57108260	0.999000	0.42202	0.999000	0.59377	0.850000	0.48378	4.512000	0.60469	2.531000	0.85337	0.491000	0.48974	TCC		0.532	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		G	58550759	C	G	58550759	3	3	204	1	0	0	0	0	1	0	0	0	14141	855	30	4	737	4	SETD6	16	58550759	Missense_Mutation	SNP	C	TCGA-B0-5399-01A-01D-1501-10		58550759	31803994	36	12501											
MEX3C	51320	hgsc.bcm.edu;ucsc.edu	37	18	48703023	48703023	+	5'Flank	DEL	C	C	-			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr18:48703023delC	ENST00000591040.1	-	0	799							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TCGCTCCTAACCCTCCGAGCA	0.478																																																0													80	78	79					18																	48703023		2203	4300	6503	SO:0001631	upstream_gene_variant	51320			BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	28040	protein-coding gene	gene with protein product		611005	"ring finger and KH domain containing 2", "mex-3 homolog C (C. elegans)"	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693		18.37:g.48703023delC	Exception_encountered		A1L022|Q9NZE3	Frame_Shift_Del	DEL	ENST00000591040.1	37																																																																																					0.478	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		-	48703023	C	-	48703023	6	5	204	0	1	1	0	1	0	0	0	0	9513	507	18	0		0	MEX3C	18	48703023	5'Flank	DEL	C	TCGA-B0-5399-01A-01D-1501-10		48703023	29374225	37	12502											
FBN3	84467	hgsc.bcm.edu;ucsc.edu	37	19	8148162	8148162	+	Silent	SNP	G	G	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr19:8148162G>A	ENST00000600128.1	-	57	7596	c.7182C>T	c.(7180-7182)taC>taT	p.Y2394Y	FBN3_ENST00000601739.1_Silent_p.Y2394Y|FBN3_ENST00000270509.2_Silent_p.Y2394Y			Q75N90	FBN3_HUMAN	fibrillin 3	2394	EGF-like 38; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CATCCGGTGTGTACCCGGCCT	0.607																																																0													164	121	135					19																	8148162		2203	4300	6503	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7182C>T	19.37:g.8148162G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.607	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8148162	G	A	8148162	2	1	204	1	0	0	0	0	0	0	0	1	5706	1372	48	2		2	FBN3	19	8148162	Silent	SNP	G	TCGA-B0-5399-01A-01D-1501-10		8148162	50980821	38	12503											
BCAM	4059	broad.mit.edu;hgsc.bcm.edu	37	19	45324077	45324077	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr19:45324077G>A	ENST00000270233.6	+	14	1901	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	627					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)	p.E627K(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTTCGGAGACGAGGTGGGTGA	0.706																																																1	Substitution - Missense(1)	kidney(1)											24	23	23					19																	45324077		2171	4246	6417	SO:0001583	missense	4059			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1879G>A	19.37:g.45324077G>A	ENSP00000270233:p.Glu627Lys		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.932927	0.73442	.	.	ENSG00000187244	ENST00000270233	T	0.60672	0.17	4.39	3.26	0.37387	.	.	.	.	.	T	0.39358	0.1075	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	P	0.52159	0.691	T	0.20840	-1.0263	9	0.07030	T	0.85	-21.2733	9.1054	0.36694	0.0:0.0:0.7819:0.2181	.	627	P50895	BCAM_HUMAN	K	627	ENSP00000270233:E627K	ENSP00000270233:E627K	E	+	1	0	BCAM	50015917	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.800000	0.47900	2.171000	0.68590	0.549000	0.68633	GAG		0.706	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		A	45324077	G	A	45324077	3	1	204	1	0	0	0	0	1	0	0	0	1344	1059	37	1	1937	1	BCAM	19	45324077	Missense_Mutation	SNP	G	TCGA-B0-5399-01A-01D-1501-10	37175915	45324077	13804906	39	12504											
ADAM33	80332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3655259	3655259	+	Silent	SNP	G	G	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr20:3655259G>A	ENST00000356518.2	-	6	733	c.492C>T	c.(490-492)caC>caT	p.H164H	ADAM33_ENST00000379861.4_Silent_p.H164H|ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000350009.2_Silent_p.H164H	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	164					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H164H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GAAAGATCTCGTGGGTTGAGA	0.607																																																1	Substitution - coding silent(1)	kidney(1)											85	96	93					20																	3655259		2203	4300	6503	SO:0001819	synonymous_variant	80332			AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.492C>T	20.37:g.3655259G>A			A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	37	CCDS13058.1																																																																																				0.607	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		A	3655259	G	A	3655259	2	1	204	1	0	0	0	0	0	0	0	1	250	1136	40	1		1	ADAM33	20	3655259	Silent	SNP	G	TCGA-B0-5399-01A-01D-1501-10		3655259	59370261	40	12505											
CABIN1	23523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24563174	24563174	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr22:24563174C>A	ENST00000398319.2	+	32	5960	c.5575C>A	c.(5575-5577)Ctt>Att	p.L1859I	CABIN1_ENST00000337989.7_Missense_Mutation_p.L284I|CABIN1_ENST00000405822.2_Missense_Mutation_p.L1780I|CABIN1_ENST00000263119.5_Missense_Mutation_p.L1859I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1859					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.L1859I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGCAAGACACTTCTGTTGGA	0.632																																																1	Substitution - Missense(1)	kidney(1)											44	43	44					22																	24563174		2202	4300	6502	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5575C>A	22.37:g.24563174C>A	ENSP00000381364:p.Leu1859Ile		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.350941	0.61183	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000003	D	0.90017	0.6883	L	0.34521	1.04	0.54753	D	0.999984	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.77557	0.978;0.99;0.978	D	0.90345	0.4362	10	0.49607	T	0.09	.	17.7539	0.88444	0.0:1.0:0.0:0.0	.	284;1780;1859	B5MEB3;G5E9F3;Q9Y6J0	.;.;CABIN_HUMAN	I	1859;1780;1859;284;284	ENSP00000263119:L1859I;ENSP00000384694:L1780I;ENSP00000381364:L1859I;ENSP00000336991:L284I	ENSP00000263119:L1859I	L	+	1	0	CABIN1	22893174	1.000000	0.71417	0.856000	0.33681	0.527000	0.34593	4.513000	0.60476	2.503000	0.84419	0.558000	0.71614	CTT		0.632	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24563174	C	A	24563174	3	1	204	1	0	0	0	0	1	0	0	0	2530	565	20	4	5697	4	CABIN1	22	24563174	Missense_Mutation	SNP	C	TCGA-B0-5399-01A-01D-1501-10		24563174	26741392	41	12506											
SGSM3	57591	hgsc.bcm.edu	37	22	40804077	40804078	+	IGR	INS	-	-	G	rs200384598		TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr22:40804077_40804078insG	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_Frame_Shift_Ins_p.W461fs|SGSM3_ENST00000248929.9_Frame_Shift_Ins_p.W528fs	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TCCCACAGGCTGGTTTCCAGCC	0.644			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0																																										SO:0001628	intergenic_variant	27352			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40804079_40804079dupG			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Frame_Shift_Ins	INS	ENST00000355630.3	37	CCDS14003.1																																																																																				0.644	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		G	40804078	-	G	40804077	6	5	204	0	1	1	1	0	0	0	0	0	14230	1580	55	0		0	SGSM3	22	40804077	IGR	INS	-	TCGA-B0-5399-01A-01D-1501-10	16240903	40804077	10500489	42	12507											
PDK3	5165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	24537120	24537120	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chrX:24537120A>C	ENST00000379162.4	+	6	901	c.666A>C	c.(664-666)gaA>gaC	p.E222D	PDK3_ENST00000441463.2_Missense_Mutation_p.E222D|AC004656.1_ENST00000580722.1_RNA	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	222	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.E222D(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAGTTGAAGAATTCAATGGTA	0.358																																																2	Substitution - Missense(2)	kidney(2)											73	65	68					X																	24537120		2203	4300	6503	SO:0001583	missense	5165			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.666A>C	X.37:g.24537120A>C	ENSP00000368460:p.Glu222Asp		B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780140	0.49891	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.48836	0.81;0.8	5.46	5.46	0.80206	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.91196	3.185	0.54753	D	0.99998	P;P	0.34587	0.458;0.458	B;B	0.37650	0.198;0.255	T	0.59241	-0.7491	10	0.31617	T	0.26	.	8.4396	0.32808	0.9101:0.0:0.0899:0.0	.	222;222	B4DXG6;Q15120	.;PDK3_HUMAN	D	222	ENSP00000368460:E222D;ENSP00000387536:E222D	ENSP00000368460:E222D	E	+	3	2	PDK3	24447041	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.488000	0.35551	1.941000	0.56285	0.481000	0.45027	GAA		0.358	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		C	24537120	A	C	24537120	3	2	204	1	0	0	0	0	1	0	0	0	11679	98	4	5	688	5	PDK3	23	24537120	Missense_Mutation	SNP	A	TCGA-B0-5399-01A-01D-1501-10		24537120	130733440	43	12508											
PGK1	5230	broad.mit.edu;hgsc.bcm.edu	37	X	77373615	77373615	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chrX:77373615T>A	ENST00000373316.4	+	6	756	c.589T>A	c.(589-591)Ttt>Att	p.F197I	PGK1_ENST00000537456.1_Missense_Mutation_p.F169I|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	197					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.F197I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GCTGAACTACTTTGCAAAGGC	0.468																																																1	Substitution - Missense(1)	kidney(1)											131	120	124					X																	77373615		2203	4296	6499	SO:0001583	missense	5230			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.589T>A	X.37:g.77373615T>A	ENSP00000362413:p.Phe197Ile		A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846691	0.51164	.	.	ENSG00000102144	ENST00000373316;ENST00000450919;ENST00000537456	D;D	0.91894	-2.93;-2.93	4.83	3.64	0.41730	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	M	0.80508	2.5	0.48185	D	0.999604	D	0.71674	0.998	D	0.78314	0.991	D	0.94286	0.7524	10	0.87932	D	0	-37.0658	9.5357	0.39220	0.1599:0.0:0.0:0.8401	.	197	P00558	PGK1_HUMAN	I	197;22;169	ENSP00000362413:F197I;ENSP00000444708:F169I	ENSP00000362413:F197I	F	+	1	0	PGK1	77260271	1.000000	0.71417	0.953000	0.39169	0.001000	0.01503	7.961000	0.87903	0.594000	0.29761	-0.567000	0.04161	TTT		0.468	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			A	77373615	T	A	77373615	3	1	204	1	0	0	0	0	1	0	0	0	11792	1609	56	5	611	5	PGK1	23	77373615	Missense_Mutation	SNP	T	TCGA-B0-5399-01A-01D-1501-10	52836495	77373615	77896945	44	12509											
KCNE1L	23630	broad.mit.edu	37	X	108868069	108868069	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5399-01A-01D-1501-10	TCGA-B0-5399-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0961a0cf-cc48-4648-899a-6bae189713be	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chrX:108868069G>T	ENST00000372101.2	-	1	324	c.181C>A	c.(181-183)Ctc>Atc	p.L61I		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	61					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)	p.L61I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						AGGATGTAGAGATAGGCGTCG	0.662																																																1	Substitution - Missense(1)	kidney(1)											46	41	42					X																	108868069		2203	4300	6503	SO:0001583	missense	23630			AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"Potassium channels"	6241	protein-coding gene	gene with protein product		300328	"potassium voltage-gated channel, Isk-related family, member 1-like"			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.181C>A	X.37:g.108868069G>T	ENSP00000361173:p.Leu61Ile			Missense_Mutation	SNP	ENST00000372101.2	37	CCDS14547.1	.	.	.	.	.	.	.	.	.	.	g	17.24	3.339565	0.60963	.	.	ENSG00000176076	ENST00000372101	T	0.74526	-0.85	4.68	1.52	0.23074	.	0.123963	0.34411	N	0.004000	T	0.64068	0.2565	L	0.36672	1.1	0.30413	N	0.778883	B	0.15930	0.015	B	0.23419	0.046	T	0.61118	-0.7127	10	0.41790	T	0.15	-21.7219	12.4802	0.55837	0.0:0.0:0.451:0.549	.	61	Q9UJ90	KCE1L_HUMAN	I	61	ENSP00000361173:L61I	ENSP00000361173:L61I	L	-	1	0	KCNE1L	108754725	1.000000	0.71417	0.981000	0.43875	0.979000	0.70002	1.104000	0.31074	0.429000	0.26202	0.431000	0.28591	CTC		0.662	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057892.1	NM_012282		T	108868069	G	T	108868069	3	4	204	1	0	0	0	0	1	0	0	0	8024	942	33	4	251	4	KCNE1L	23	108868069	Missense_Mutation	SNP	G	TCGA-B0-5399-01A-01D-1501-10	31494454	108868069	46402491	45	12510											
VHL	7428	hgsc.bcm.edu	37	3	10183864	10183864	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5399-01A-01W-1528-10	TCGA-B0-5399-10A-01D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	83a76d98-c12a-4fe5-b3a3-9d74a3ae5179	ccca4bdb-ecc3-478a-ab84-47822fc05435	g.chr3:10183864C>G	ENST00000256474.2	+	1	1173	c.333C>G	c.(331-333)agC>agG	p.S111R	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.S111R	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	111	Involved in binding to CCT complex.		S -> C (in VHLD; type II).|S -> N (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S111R(3)|p.S111S(2)|p.?(1)|p.I109_R113del(1)|p.S111fs*45(1)|p.H110_S111del(1)|p.S111_Y112del(1)|p.Y112fs*47(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCATCCACAGCTACCGAGGTA	0.692		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Substitution - Missense(3)|Deletion - In frame(3)|Deletion - Frameshift(2)|Substitution - coding silent(2)|Unknown(1)	kidney(11)	GRCh37	CM951281	VHL	M							10	11	11					3																	10183864		1807	3766	5573	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.333C>G	3.37:g.10183864C>G	ENSP00000256474:p.Ser111Arg		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917284	0.92249	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99773	-6.72;-6.72	5.17	4.3	0.51218	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.096185	0.64402	D	0.000001	D	0.99510	0.9825	L	0.46157	1.445	0.25235	N	0.989793	D;D	0.89917	0.991;1.0	P;D	0.85130	0.858;0.997	D	0.98010	1.0365	10	0.87932	D	0	-5.879	11.6184	0.51102	0.0:0.9134:0.0:0.0866	.	111;111	P40337-2;P40337	.;VHL_HUMAN	R	111;111;29	ENSP00000256474:S111R;ENSP00000344757:S111R	ENSP00000256474:S111R	S	+	3	2	VHL	10158864	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.672000	0.37523	1.199000	0.43173	0.479000	0.44913	AGC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183864	C	G	10183864	3	3	205	1	0	0	0	0	1	0	0	0	17167	796	28	4	335	4	VHL	3	10183864	Missense_Mutation	SNP	C	TCGA-B0-5399-01A-01W-1528-10		10183864	187838566	1	12511											
OTUD3	23252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20233088	20233088	+	Silent	SNP	A	A	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr1:20233088A>G	ENST00000375120.3	+	7	1000	c.999A>G	c.(997-999)gcA>gcG	p.A333A		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	333			A -> T (in dbSNP:rs10916668).		protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)	p.A333A(1)		breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AAAACAAAGCAAATAAAAACC	0.468																																																1	Substitution - coding silent(1)	kidney(1)											81	82	81					1																	20233088		1949	4130	6079	SO:0001819	synonymous_variant	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.999A>G	1.37:g.20233088A>G			O75047	Silent	SNP	ENST00000375120.3	37	CCDS41279.1																																																																																				0.468	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			G	20233088	A	G	20233088	2	3	206	1	0	0	0	0	0	0	0	1	11315	117	5	3		3	OTUD3	1	20233088	Silent	SNP	A	TCGA-B0-5400-01A-01D-1501-10		20233088	229017533	1	12512											
RPL5	6125	broad.mit.edu;ucsc.edu	37	1	93307322	93307322	+	Splice_Site	SNP	G	G	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr1:93307322G>C	ENST00000370321.3	+	8	884		c.e8-1		SNORA66_ENST00000384792.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		ATCTTTTGTAGGTGGAACCGT	0.338																																																1	Unknown(1)	kidney(1)											26	30	28					1																	93307322		2196	4285	6481	SO:0001630	splice_region_variant	6125			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.795-1G>C	1.37:g.93307322G>C			Q32LZ3|Q53HH6|Q9H3F4	Splice_Site	SNP	ENST00000370321.3	37	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514064	0.64522	.	.	ENSG00000122406	ENST00000432788;ENST00000370321	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6456	0.91409	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL5	93079910	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.742000	0.98846	2.402000	0.81655	0.462000	0.41574	.		0.338	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969	Intron	C	93307322	G	C	93307322	5	2	206	1	0	0	0	0	0	0	1	0	13603	1014	35	4	824	4	RPL5	1	93307322	Splice_Site	SNP	G	TCGA-B0-5400-01A-01D-1501-10	73074234	93307322	155943299	2	12513											
SHC1	6464	broad.mit.edu;ucsc.edu	37	1	154941261	154941261	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr1:154941261T>G	ENST00000368445.5	-	3	830	c.616A>C	c.(616-618)Aca>Cca	p.T206P	SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.T96P|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000448116.2_Missense_Mutation_p.T206P|SHC1_ENST00000368453.4_Missense_Mutation_p.T96P	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	206	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.T96P(1)|p.T206P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCTCCTTGTCGCCCCCTTA	0.637																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)											2	Substitution - Missense(2)	kidney(2)											148	127	134					1																	154941261		2203	4300	6503	SO:0001583	missense	6464			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.616A>C	1.37:g.154941261T>G	ENSP00000357430:p.Thr206Pro		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	T	9.095	1.002763	0.19121	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000412170;ENST00000366442	T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49	5.03	2.64	0.31445	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.582496	0.19532	N	0.112016	T	0.05502	0.0145	N	0.25647	0.755	0.09310	N	1	B;B	0.24675	0.004;0.109	B;P	0.45639	0.031;0.488	T	0.45906	-0.9229	10	0.31617	T	0.26	.	3.6692	0.08268	0.1973:0.1306:0.0:0.6722	.	206;206	P29353-6;P29353	.;SHC1_HUMAN	P	206;206;96;96;142;96;96	ENSP00000357430:T206P;ENSP00000401303:T206P;ENSP00000357438:T96P;ENSP00000357435:T96P;ENSP00000398441:T96P;ENSP00000396162:T96P	ENSP00000396162:T96P	T	-	1	0	SHC1	153207885	0.063000	0.20901	0.014000	0.15608	0.698000	0.40448	0.854000	0.27791	0.913000	0.36797	0.260000	0.18958	ACA		0.637	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		G	154941261	T	G	154941261	3	3	206	1	0	0	0	0	1	0	0	0	14276	1667	58	5	1178	5	SHC1	1	154941261	Missense_Mutation	SNP	T	TCGA-B0-5400-01A-01D-1501-10	61633939	154941261	94309360	3	12514											
TARBP1	6894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234599596	234599596	+	Silent	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr1:234599596T>C	ENST00000040877.1	-	6	1385	c.1386A>G	c.(1384-1386)ccA>ccG	p.P462P		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	462					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.P462P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTATTTCTTCTGGAAGAAGAG	0.353																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											25	27	26					1																	234599596		2203	4300	6503	SO:0001819	synonymous_variant	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1386A>G	1.37:g.234599596T>C			Q9H581	Silent	SNP	ENST00000040877.1	37	CCDS1601.1																																																																																				0.353	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		C	234599596	T	C	234599596	2	2	206	1	0	0	0	0	0	0	0	1	15560	1567	55	3		3	TARBP1	1	234599596	Silent	SNP	T	TCGA-B0-5400-01A-01D-1501-10	79658335	234599596	14651025	4	12515											
PSD4	23550	hgsc.bcm.edu;ucsc.edu	37	2	113943717	113943717	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr2:113943717delA	ENST00000245796.6	+	5	1708	c.1513delA	c.(1513-1515)aaafs	p.K506fs	PSD4_ENST00000441564.3_Frame_Shift_Del_p.K478fs	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	506					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCTTGAAGAAAAAGGAGGC	0.537																																																0													51	55	54					2																	113943717		2203	4300	6503	SO:0001589	frameshift_variant	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1513delA	2.37:g.113943717delA	ENSP00000245796:p.Lys506fs		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Frame_Shift_Del	DEL	ENST00000245796.6	37	CCDS33276.1																																																																																				0.537	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		-	113943717	A	-	113943717	7	5	206	1	0	1	0	1	0	0	0	0	12654	247	9	0	1527	0	PSD4	2	113943717	Frame_Shift_Del	DEL	A	TCGA-B0-5400-01A-01D-1501-10		113943717	129255656	5	12516											
IWS1	55677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128263302	128263302	+	Silent	SNP	G	G	T	rs377613210		TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr2:128263302G>T	ENST00000295321.4	-	3	436	c.177C>A	c.(175-177)ggC>ggA	p.G59G	IWS1_ENST00000455721.2_Silent_p.G66G|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	59					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G59G(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTTTGGGGAGGCCATCTTCTC	0.348																																																1	Substitution - coding silent(1)	kidney(1)											121	123	122					2																	128263302		2203	4300	6503	SO:0001819	synonymous_variant	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.177C>A	2.37:g.128263302G>T			Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	ENST00000295321.4	37	CCDS2146.1																																																																																				0.348	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		T	128263302	G	T	128263302	2	4	206	1	0	0	0	0	0	0	0	1	7933	1190	42	4		4	IWS1	2	128263302	Silent	SNP	G	TCGA-B0-5400-01A-01D-1501-10	14319585	128263302	114936071	6	12517											
GPR39	2863	broad.mit.edu	37	2	133175094	133175094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr2:133175094G>A	ENST00000329321.3	+	1	948	c.479G>A	c.(478-480)tGg>tAg	p.W160*		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	160					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)	p.W160*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCTTCGTCTGGGTCACCTCC	0.607																																																1	Substitution - Nonsense(1)	kidney(1)											89	73	78					2																	133175094		2203	4300	6503	SO:0001587	stop_gained	2863			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.479G>A	2.37:g.133175094G>A	ENSP00000327417:p.Trp160*		B2RC12|B6V9G4|Q08AS2|Q53R01	Nonsense_Mutation	SNP	ENST00000329321.3	37	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	43	10.261882	0.99370	.	.	ENSG00000183840	ENST00000329321	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2005	0.93710	0.0:0.0:1.0:0.0	.	.	.	.	X	160	.	ENSP00000327417:W160X	W	+	2	0	GPR39	132891564	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.631000	0.98424	2.782000	0.95742	0.585000	0.79938	TGG		0.607	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			A	133175094	G	A	133175094	4	1	206	1	0	0	0	0	0	1	0	0	6695	1357	47	2	481	2	GPR39	2	133175094	Nonsense_Mutation	SNP	G	TCGA-B0-5400-01A-01D-1501-10	4911792	133175094	110024279	7	12518											
MFSD6	54842	hgsc.bcm.edu;ucsc.edu	37	2	191334581	191334581	+	Splice_Site	SNP	G	G	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr2:191334581G>T	ENST00000392328.1	+	4	1954	c.1630G>T	c.(1630-1632)Gga>Tga	p.G544*	MFSD6_ENST00000281416.7_Splice_Site_p.G544*|MFSD6_ENST00000535751.1_Splice_Site_p.G6*|MFSD6_ENST00000489793.1_3'UTR	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	544					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGTTCTTCAAGGTAAGTTAAC	0.468																																																0													68	66	67					2																	191334581		2203	4300	6503	SO:0001630	splice_region_variant	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1630+1G>T	2.37:g.191334581G>T			D3KSZ4|Q86TH2|Q9NXM3	Nonsense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.07|12.07	1.826608|1.826608	0.32329|0.32329	.|.	.|.	ENSG00000151690|ENSG00000151690	ENST00000392328;ENST00000281416;ENST00000444317;ENST00000542423;ENST00000535751|ENST00000434582	.|.	.|.	.|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76615	.|-0.2894	.|3	0.72032|.	D|.	0.01|.	-16.9159|-16.9159	19.4379|19.4379	0.94804|0.94804	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	544;544;6;6;6|79	.|.	ENSP00000281416:G544X|.	G|R	+|+	1|2	0|0	MFSD6|MFSD6	191042826|191042826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.006000|0.006000	0.05464|0.05464	9.228000|9.228000	0.95250|0.95250	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.468	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1		Nonsense_Mutation	T	191334581	G	T	191334581	5	4	206	1	0	0	0	0	0	0	1	0	9537	1014	35	4	1636	4	MFSD6	2	191334581	Splice_Site	SNP	G	TCGA-B0-5400-01A-01D-1501-10	58159487	191334581	51864792	8	12519											
SLC4A7	9497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	27442256	27442256	+	Splice_Site	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr3:27442256G>A	ENST00000295736.5	-	16	2469	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	SLC4A7_ENST00000446700.1_Splice_Site_p.S792F|SLC4A7_ENST00000435667.2_Splice_Site_p.S685F|SLC4A7_ENST00000445684.1_Splice_Site_p.S796F|SLC4A7_ENST00000428386.1_Splice_Site_p.S676F|SLC4A7_ENST00000440156.1_Splice_Site_p.S796F|SLC4A7_ENST00000454389.1_Splice_Site_p.S809F|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000388777.4_Splice_Site_p.S350F|SLC4A7_ENST00000437179.1_Splice_Site_p.S681F|SLC4A7_ENST00000455077.1_Splice_Site_p.S681F	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	800					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.S800F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TATACTCACAGAAACAGTAAG	0.338																																																1	Substitution - Missense(1)	kidney(1)											111	113	112					3																	27442256		2203	4298	6501	SO:0001630	splice_region_variant	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2400+1C>T	3.37:g.27442256G>A			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188555	0.38609	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.43	4.52	0.55395	Bicarbonate transporter, C-terminal (1);	0.269450	0.37857	N	0.001915	D	0.85805	0.5782	M	0.66939	2.045	0.80722	D	1	P;P;P;P;P;B;P;P;P	0.41366	0.747;0.537;0.747;0.564;0.537;0.313;0.481;0.747;0.537	P;B;P;P;B;B;B;P;P	0.54026	0.74;0.436;0.74;0.507;0.389;0.402;0.309;0.74;0.722	D	0.87072	0.2160	10	0.72032	D	0.01	.	14.0602	0.64795	0.0:0.0:0.7317:0.2683	.	796;681;792;796;809;350;676;800;681	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	F	351;800;676;809;796;681;792;681;796;685;350;696	ENSP00000411031:S351F;ENSP00000295736:S800F;ENSP00000416368:S676F;ENSP00000390394:S809F;ENSP00000414797:S796F;ENSP00000394252:S681F;ENSP00000406605:S792F;ENSP00000407382:S681F;ENSP00000406804:S796F;ENSP00000395336:S685F;ENSP00000373429:S350F;ENSP00000388703:S696F	ENSP00000295736:S800F	S	-	2	0	SLC4A7	27417260	0.531000	0.26338	1.000000	0.80357	0.528000	0.34623	1.051000	0.30417	2.560000	0.86352	0.467000	0.42956	TCT		0.338	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	Missense_Mutation	A	27442256	G	A	27442256	5	1	206	1	0	0	0	0	0	0	1	0	14664	956	33	2	1285	2	SLC4A7	3	27442256	Splice_Site	SNP	G	TCGA-B0-5400-01A-01D-1501-10		27442256	170580174	9	12520											
ALAS1	211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52246387	52246387	+	Silent	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr3:52246387G>A	ENST00000394965.2	+	11	2073	c.1713G>A	c.(1711-1713)cgG>cgA	p.R571R	ALAS1_ENST00000469224.1_Silent_p.R571R|ALAS1_ENST00000310271.2_Silent_p.R571R|ALAS1_ENST00000484952.1_Silent_p.R571R	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	571					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.R571R(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AGCTCCTACGGATTGCCCCCA	0.517																																																1	Substitution - coding silent(1)	kidney(1)											246	264	258					3																	52246387		2203	4300	6503	SO:0001819	synonymous_variant	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1713G>A	3.37:g.52246387G>A				Silent	SNP	ENST00000394965.2	37	CCDS2847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.737|0.737	-0.777862|-0.777862	0.02929|0.02929	.|.	.|.	ENSG00000023330|ENSG00000023330	ENST00000459884|ENST00000493402	.|.	.|.	.|.	5.22|5.22	-3.61|-3.61	0.04556|0.04556	.|.	.|.	.|.	.|.	.|.	T|T	0.48409|0.48409	0.1498|0.1498	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45629|0.45629	-0.9248|-0.9248	4|4	.|.	.|.	.|.	-14.652|-14.652	6.2506|6.2506	0.20843|0.20843	0.0687:0.4466:0.2387:0.246|0.0687:0.4466:0.2387:0.246	.|.	.|.	.|.	.|.	N|E	72|168	.|.	.|.	D|G	+|+	1|2	0|0	ALAS1|ALAS1	52221427|52221427	0.970000|0.970000	0.33590|0.33590	0.090000|0.090000	0.20809|0.20809	0.041000|0.041000	0.13682|0.13682	0.080000|0.080000	0.14802|0.14802	-0.364000|-0.364000	0.08088|0.08088	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.517	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			A	52246387	G	A	52246387	2	1	206	1	0	0	0	0	0	0	0	1	484	1161	41	2		2	ALAS1	3	52246387	Silent	SNP	G	TCGA-B0-5400-01A-01D-1501-10	24804131	52246387	145776043	10	12521											
FBXW7	55294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	153244135	153244135	+	Silent	SNP	C	C	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr4:153244135C>G	ENST00000281708.4	-	12	3251	c.2022G>C	c.(2020-2022)cgG>cgC	p.R674R	RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603841.1_Silent_p.R674R|FBXW7_ENST00000603548.1_Silent_p.R674R|FBXW7_ENST00000263981.5_Silent_p.R594R|FBXW7_ENST00000393956.3_Silent_p.R498R|FBXW7_ENST00000296555.5_Silent_p.R556R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	674					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R674R(2)|p.R594R(1)|p.R556R(1)|p.?(1)|p.R435R(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGGCTCTGATCCGCCACACAA	0.493			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	6	Substitution - coding silent(5)|Unknown(1)	kidney(5)|haematopoietic_and_lymphoid_tissue(1)											190	186	187					4																	153244135		2203	4300	6503	SO:0001819	synonymous_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2022G>C	4.37:g.153244135C>G			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				0.493	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			G	153244135	C	G	153244135	2	3	206	1	0	0	0	0	0	0	0	1	5771	842	30	4		4	FBXW7	4	153244135	Silent	SNP	C	TCGA-B0-5400-01A-01D-1501-10		153244135	37910141	11	12522											
SNX25	83891	broad.mit.edu;ucsc.edu	37	4	186283245	186283245	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr4:186283245T>C	ENST00000504273.1	+	17	2621	c.2327T>C	c.(2326-2328)cTt>cCt	p.L776P	SNX25_ENST00000264694.8_Missense_Mutation_p.L776P|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	776					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.L776P(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CAAAAGCTGCTTGAAAACATT	0.468																																																1	Substitution - Missense(1)	kidney(1)											36	35	35					4																	186283245		2203	4300	6503	SO:0001583	missense	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2327T>C	4.37:g.186283245T>C	ENSP00000426255:p.Leu776Pro		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955374	0.73902	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.32753	1.44;1.44	5.29	5.29	0.74685	Sorting nexin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.63954	-0.6520	10	0.44086	T	0.13	-14.6889	15.5242	0.75890	0.0:0.0:0.0:1.0	.	492;309;776	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	P	776;776;309	ENSP00000426255:L776P;ENSP00000264694:L776P	ENSP00000264693:L309P	L	+	2	0	SNX25	186520239	1.000000	0.71417	0.643000	0.29450	0.845000	0.48019	7.647000	0.83462	2.144000	0.66660	0.443000	0.29094	CTT		0.468	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		C	186283245	T	C	186283245	3	2	206	1	0	0	0	0	1	0	0	0	14902	1609	56	3	2389	3	SNX25	4	186283245	Missense_Mutation	SNP	T	TCGA-B0-5400-01A-01D-1501-10	33039110	186283245	4871031	12	12523											
SEMA3E	9723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82996992	82996992	+	Silent	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr7:82996992G>A	ENST00000307792.3	-	17	2705	c.2238C>T	c.(2236-2238)ccC>ccT	p.P746P	SEMA3E_ENST00000427262.1_Silent_p.P686P	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	746	Arg/Lys-rich (basic).				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.P746P(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCCACTTGGAGGGTGACATTT	0.493																																																1	Substitution - coding silent(1)	kidney(1)											178	176	177					7																	82996992		2203	4300	6503	SO:0001819	synonymous_variant	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2238C>T	7.37:g.82996992G>A			B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	CCDS34674.1																																																																																				0.493	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		A	82996992	G	A	82996992	2	1	206	1	0	0	0	0	0	0	0	1	14034	987	35	2		2	SEMA3E	7	82996992	Silent	SNP	G	TCGA-B0-5400-01A-01D-1501-10		82996992	76141671	13	12524											
NRCAM	4897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107820706	107820706	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr7:107820706G>A	ENST00000425651.2	-	22	2811	c.2812C>T	c.(2812-2814)Cca>Tca	p.P938S	NRCAM_ENST00000351718.4_Missense_Mutation_p.P922S|NRCAM_ENST00000413765.2_Missense_Mutation_p.P919S|NRCAM_ENST00000379022.4_Missense_Mutation_p.P938S|NRCAM_ENST00000379024.4_Missense_Mutation_p.P919S|NRCAM_ENST00000379028.3_Missense_Mutation_p.P938S	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	938	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.P922S(1)|p.P938S(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGGCTGGCTGGGCCCTCCCCT	0.532																																																2	Substitution - Missense(2)	kidney(2)											82	73	76					7																	107820706		2203	4300	6503	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2812C>T	7.37:g.107820706G>A	ENSP00000401244:p.Pro938Ser		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177721	0.94846	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	5.56	5.56	0.83823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	H	0.94264	3.515	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.993;0.999;0.993;1.0	D;D;D;D;D	0.79108	0.934;0.94;0.99;0.959;0.992	D	0.87909	0.2696	10	0.87932	D	0	.	19.5187	0.95176	0.0:0.0:1.0:0.0	.	938;919;919;922;938	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	S	938;938;919;938;922;919;938;938	ENSP00000368314:P938S;ENSP00000407858:P919S;ENSP00000325269:P922S;ENSP00000368310:P919S;ENSP00000401244:P938S;ENSP00000368308:P938S	ENSP00000325269:P922S	P	-	1	0	NRCAM	107607942	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.864000	0.99589	2.609000	0.88269	0.563000	0.77884	CCA		0.532	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		A	107820706	G	A	107820706	3	1	206	1	0	0	0	0	1	0	0	0	10646	1232	43	2	1168	2	NRCAM	7	107820706	Missense_Mutation	SNP	G	TCGA-B0-5400-01A-01D-1501-10	24823714	107820706	51317957	14	12525											
EPB41L4B	54566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	111976002	111976002	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr9:111976002G>T	ENST00000374566.3	-	17	2247	c.1730C>A	c.(1729-1731)cCt>cAt	p.P577H		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	577					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.P577H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGTGCAGAGGAGGCCAGGG	0.542																																																1	Substitution - Missense(1)	kidney(1)											79	82	81					9																	111976002		1983	4155	6138	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1730C>A	9.37:g.111976002G>T	ENSP00000363694:p.Pro577His		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.832872	0.50951	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.82984	-1.67	5.47	5.47	0.80525	.	0.686095	0.12076	N	0.501773	T	0.70500	0.3231	N	0.08118	0	0.80722	D	1	B	0.18610	0.029	B	0.06405	0.002	T	0.63980	-0.6514	10	0.49607	T	0.09	.	14.823	0.70087	0.0:0.0:1.0:0.0	.	577	Q9H329	E41LB_HUMAN	H	262;577	ENSP00000363694:P577H	ENSP00000262536:P262H	P	-	2	0	EPB41L4B	111015823	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.009000	0.70745	2.576000	0.86940	0.555000	0.69702	CCT		0.542	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		T	111976002	G	T	111976002	3	4	206	1	0	0	0	0	1	0	0	0	5158	1000	35	4	1012	4	EPB41L4B	9	111976002	Missense_Mutation	SNP	G	TCGA-B0-5400-01A-01D-1501-10		111976002	29237429	15	12526											
CUL2	8453	broad.mit.edu;ucsc.edu	37	10	35299283	35299283	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr10:35299283C>T	ENST00000374748.1	-	22	2507	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K	CUL2_ENST00000537177.1_Missense_Mutation_p.E751K|CUL2_ENST00000374746.1_Missense_Mutation_p.E693K|CUL2_ENST00000602371.1_Missense_Mutation_p.E675K|CUL2_ENST00000374742.1_Missense_Mutation_p.E693K|CUL2_ENST00000374749.3_Missense_Mutation_p.E732K|CUL2_ENST00000374751.3_Missense_Mutation_p.E732K			Q13617	CUL2_HUMAN	cullin 2	732					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.E732K(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TGGCTGCGTTCTATGTATTGT	0.463																																																1	Substitution - Missense(1)	kidney(1)											148	124	132					10																	35299283		2203	4300	6503	SO:0001583	missense	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.2194G>A	10.37:g.35299283C>T	ENSP00000363880:p.Glu732Lys		B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116989	0.94385	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.71222	-0.54;-0.54;-0.45;-0.54;-0.45;-0.55	5.72	4.83	0.62350	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	L	0.49778	1.585	0.80722	D	1	P;P	0.46859	0.861;0.885	P;P	0.51701	0.548;0.677	T	0.77640	-0.2512	10	0.87932	D	0	-18.2527	14.5786	0.68268	0.0:0.9301:0.0:0.0699	.	751;732	G3V1S2;Q13617	.;CUL2_HUMAN	K	732;732;693;732;675;693;751	ENSP00000363883:E732K;ENSP00000363880:E732K;ENSP00000363878:E693K;ENSP00000363881:E732K;ENSP00000363874:E693K;ENSP00000444856:E751K	ENSP00000363874:E693K	E	-	1	0	CUL2	35339289	1.000000	0.71417	0.970000	0.41538	0.983000	0.72400	7.810000	0.86072	1.430000	0.47334	0.591000	0.81541	GAA		0.463	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		T	35299283	C	T	35299283	3	4	206	1	0	0	0	0	1	0	0	0	4057	922	32	2	47	2	CUL2	10	35299283	Missense_Mutation	SNP	C	TCGA-B0-5400-01A-01D-1501-10		35299283	100235464	16	12527											
LRRC18	474354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	50121787	50121787	+	Silent	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr10:50121787G>A	ENST00000374160.3	-	1	490	c.414C>T	c.(412-414)acC>acT	p.T138T	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Silent_p.T138T	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	138						cytoplasm (GO:0005737)		p.T138T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCCCCAGTGTGGTGGGCACGC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											76	76	76					10																	50121787		2203	4300	6503	SO:0001819	synonymous_variant	474354			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.414C>T	10.37:g.50121787G>A			Q6UY02	Silent	SNP	ENST00000374160.3	37	CCDS31197.1																																																																																				0.592	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		A	50121787	G	A	50121787	2	1	206	1	0	0	0	0	0	0	0	1	8976	1335	47	2		2	LRRC18	10	50121787	Silent	SNP	G	TCGA-B0-5400-01A-01D-1501-10	14822504	50121787	85412960	17	12528											
LRRTM3	347731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	68688186	68688186	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr10:68688186C>A	ENST00000361320.4	+	2	2090	c.1512C>A	c.(1510-1512)aaC>aaA	p.N504K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	504					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.N504K(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCACCTATAACAAATCGGGCT	0.458																																																2	Substitution - Missense(2)	kidney(2)											44	47	46					10																	68688186		2198	4292	6490	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1512C>A	10.37:g.68688186C>A	ENSP00000355187:p.Asn504Lys		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895040	0.52121	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.74737	-0.87	5.93	5.93	0.95920	.	0.453439	0.24561	N	0.037471	T	0.69993	0.3173	N	0.22421	0.69	0.47153	D	0.999339	B;P	0.34587	0.329;0.458	B;B	0.41271	0.191;0.352	T	0.69308	-0.5179	10	0.48119	T	0.1	.	19.1113	0.93317	0.0:1.0:0.0:0.0	.	504;504	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	504	ENSP00000355187:N504K	ENSP00000355187:N504K	N	+	3	2	LRRTM3	68358192	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.958000	0.70330	2.811000	0.96726	0.557000	0.71058	AAC		0.458	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		A	68688186	C	A	68688186	3	1	206	1	0	0	0	0	1	0	0	0	9043	477	17	4	1518	4	LRRTM3	10	68688186	Missense_Mutation	SNP	C	TCGA-B0-5400-01A-01D-1501-10	18566399	68688186	66846561	18	12529											
CH25H	9023	broad.mit.edu;ucsc.edu	37	10	90966990	90966990	+	Silent	SNP	C	C	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr10:90966990C>T	ENST00000371852.2	-	1	81	c.60G>A	c.(58-60)ctG>ctA	p.L20L		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	20					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.L20L(1)		kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		AGAGGGGCTGCAGGAACAGCT	0.632																																																1	Substitution - coding silent(1)	kidney(1)											18	22	21					10																	90966990		2201	4299	6500	SO:0001819	synonymous_variant	9023			AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"Fatty acid hydroxylase domain containing"	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.60G>A	10.37:g.90966990C>T			B2RBY3	Silent	SNP	ENST00000371852.2	37	CCDS7400.1																																																																																				0.632	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049291.1	NM_003956		T	90966990	C	T	90966990	2	4	206	1	0	0	0	0	0	0	0	1	3309	697	25	2		2	CH25H	10	90966990	Silent	SNP	C	TCGA-B0-5400-01A-01D-1501-10	22278804	90966990	44567757	19	12530											
SFXN4	119559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	120921912	120921912	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr10:120921912G>C	ENST00000355697.2	-	3	211	c.192C>G	c.(190-192)aaC>aaG	p.N64K	SFXN4_ENST00000330036.6_Missense_Mutation_p.N64K|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	64					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.N64K(1)		central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GTTGCCTCGAGTTTTCTATAC	0.458																																																1	Substitution - Missense(1)	kidney(1)											126	115	119					10																	120921912		2203	4300	6503	SO:0001583	missense	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.192C>G	10.37:g.120921912G>C	ENSP00000347924:p.Asn64Lys		Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.675798	0.00751	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.26223	1.75;1.75	3.41	-0.232	0.13082	.	0.428825	0.22449	N	0.059919	T	0.07593	0.0191	N	0.04880	-0.145	0.20489	N	0.999895	B	0.02656	0.0	B	0.04013	0.001	T	0.31916	-0.9926	10	0.06494	T	0.89	-8.9213	3.1968	0.06636	0.0:0.2945:0.2477:0.4579	.	64	Q6P4A7	SFXN4_HUMAN	K	64	ENSP00000347924:N64K;ENSP00000333200:N64K	ENSP00000333200:N64K	N	-	3	2	SFXN4	120911902	0.005000	0.15991	0.359000	0.25824	0.005000	0.04900	-0.803000	0.04540	-0.051000	0.13334	-0.471000	0.05019	AAC		0.458	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		C	120921912	G	C	120921912	3	2	206	1	0	0	0	0	1	0	0	0	14203	1020	36	4	869	4	SFXN4	10	120921912	Missense_Mutation	SNP	G	TCGA-B0-5400-01A-01D-1501-10	29954922	120921912	14612835	20	12531											
TTC17	55761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	43469635	43469635	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr11:43469635G>A	ENST00000039989.4	+	19	2763	c.2749G>A	c.(2749-2751)Gtg>Atg	p.V917M		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	917					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.V917M(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GACTGCCATCGTGAGTACCTG	0.493																																																1	Substitution - Missense(1)	kidney(1)											85	71	75					11																	43469635		2203	4300	6503	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2749G>A	11.37:g.43469635G>A	ENSP00000039989:p.Val917Met		G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026182	0.75390	.	.	ENSG00000052841	ENST00000039989	T	0.32272	1.46	5.91	5.91	0.95273	.	0.114590	0.64402	D	0.000018	T	0.20577	0.0495	N	0.08118	0	0.39696	D	0.971116	D	0.58268	0.982	B	0.42062	0.374	T	0.05402	-1.0887	10	0.32370	T	0.25	-8.2916	20.3011	0.98612	0.0:0.0:1.0:0.0	.	917	Q96AE7	TTC17_HUMAN	M	917	ENSP00000039989:V917M	ENSP00000039989:V917M	V	+	1	0	TTC17	43426211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.850000	0.92190	2.804000	0.96469	0.650000	0.86243	GTG		0.493	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		A	43469635	G	A	43469635	3	1	206	1	0	0	0	0	1	0	0	0	16689	1145	40	1	2823	1	TTC17	11	43469635	Missense_Mutation	SNP	G	TCGA-B0-5400-01A-01D-1501-10		43469635	91536881	21	12532											
TAS2R46	259292	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	11214646	11214646	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr12:11214646G>T	ENST00000533467.1	-	1	247	c.248C>A	c.(247-249)aCt>aAt	p.T83N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	83					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.T83N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		ATTGTAAGCAGTAATTCTTAC	0.393																																																1	Substitution - Missense(1)	kidney(1)											73	75	74					12																	11214646		2040	4231	6271	SO:0001583	missense	259292			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.248C>A	12.37:g.11214646G>T	ENSP00000436450:p.Thr83Asn		P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	G	6.140	0.393960	0.11638	.	.	ENSG00000226761	ENST00000533467	T	0.39229	1.09	1.38	-1.67	0.08238	.	.	.	.	.	T	0.40767	0.1130	M	0.65498	2.005	0.09310	N	1	P	0.45531	0.86	P	0.47705	0.555	T	0.28202	-1.0051	9	0.35671	T	0.21	.	2.9711	0.05923	0.5559:0.2538:0.1903:0.0	.	83	P59540	T2R46_HUMAN	N	83	ENSP00000436450:T83N	ENSP00000436450:T83N	T	-	2	0	TAS2R46	11105913	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.501000	0.06398	-0.398000	0.07679	0.194000	0.17425	ACT		0.393	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		T	11214646	G	T	11214646	3	4	206	1	0	0	0	0	1	0	0	0	15587	1029	36	4	685	4	TAS2R46	12	11214646	Missense_Mutation	SNP	G	TCGA-B0-5400-01A-01D-1501-10		11214646	122637249	22	12533											
PIK3C2G	5288	broad.mit.edu;ucsc.edu	37	12	18649023	18649023	+	Silent	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr12:18649023T>C	ENST00000266497.5	+	19	2736	c.2698T>C	c.(2698-2700)Ttg>Ctg	p.L900L	PIK3C2G_ENST00000433979.1_Silent_p.L900L|PIK3C2G_ENST00000538779.1_Silent_p.L941L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	900					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.L900L(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATCTAATGCTTTGCCATTGAA	0.343																																																2	Substitution - coding silent(2)	kidney(2)											119	103	108					12																	18649023		1819	4063	5882	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2698T>C	12.37:g.18649023T>C			A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																				0.343	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		C	18649023	T	C	18649023	2	2	206	1	0	0	0	0	0	0	0	1	11913	1838	64	3		3	PIK3C2G	12	18649023	Silent	SNP	T	TCGA-B0-5400-01A-01D-1501-10	7434377	18649023	115202872	23	12534											
KRAS	3845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	25380282	25380282	+	Missense_Mutation	SNP	G	G	C	rs104886029		TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr12:25380282G>C	ENST00000256078.4	-	3	239	c.176C>G	c.(175-177)gCa>gGa	p.A59G	KRAS_ENST00000311936.3_Missense_Mutation_p.A59G|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	59			A -> T (in bladder cancer and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:1553789}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.A59E(4)|p.A59G(4)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTCTTGACCTGCTGTGTCGAG	0.418		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	8	Substitution - Missense(8)	large_intestine(4)|kidney(2)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											107	95	99					12																	25380282		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.176C>G	12.37:g.25380282G>C	ENSP00000256078:p.Ala59Gly		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961083	0.92791	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88818	-2.43;-2.43	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.046090	0.85682	D	0.000000	D	0.94785	0.8316	H	0.94542	3.55	0.80722	D	1	B;P	0.34892	0.101;0.474	B;P	0.45506	0.124;0.483	D	0.94788	0.7959	10	0.87932	D	0	.	19.3504	0.94381	0.0:0.0:1.0:0.0	.	59;59	P01116-2;P01116	.;RASK_HUMAN	G	59	ENSP00000308495:A59G;ENSP00000256078:A59G	ENSP00000256078:A59G	A	-	2	0	KRAS	25271549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.796000	0.99103	2.885000	0.99019	0.655000	0.94253	GCA		0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		C	25380282	G	C	25380282	3	2	206	1	0	0	0	0	1	0	0	0	8440	1319	46	4	526	4	KRAS	12	25380282	Missense_Mutation	SNP	G	TCGA-B0-5400-01A-01D-1501-10	6731259	25380282	108471613	24	12535											
LIMA1	51474	broad.mit.edu;ucsc.edu	37	12	50616129	50616129	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr12:50616129T>A	ENST00000341247.4	-	4	454	c.305A>T	c.(304-306)gAc>gTc	p.D102V	RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552008.1_5'Flank|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.D102V|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	102					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.D102V(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGGAGGATGGTCTGCTCTGTG	0.527																																																1	Substitution - Missense(1)	kidney(1)											199	156	170					12																	50616129		2203	4300	6503	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.305A>T	12.37:g.50616129T>A	ENSP00000340184:p.Asp102Val		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159048	0.38119	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	D;T	0.84298	-1.83;-1.09	6.06	-0.285	0.12866	.	1.562420	0.02917	N	0.137501	T	0.78929	0.4361	L	0.54323	1.7	0.58432	D	0.999998	B;B	0.31125	0.309;0.156	B;B	0.25140	0.058;0.026	T	0.64132	-0.6479	10	0.35671	T	0.21	.	2.4172	0.04439	0.11:0.3366:0.2265:0.3269	.	111;102	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	V	102	ENSP00000378400:D102V;ENSP00000340184:D102V	ENSP00000340184:D102V	D	-	2	0	LIMA1	48902396	0.001000	0.12720	0.033000	0.17914	0.659000	0.38960	-0.402000	0.07223	-0.056000	0.13221	-0.250000	0.11733	GAC		0.527	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		A	50616129	T	A	50616129	3	1	206	1	0	0	0	0	1	0	0	0	8798	1667	58	5	2009	5	LIMA1	12	50616129	Missense_Mutation	SNP	T	TCGA-B0-5400-01A-01D-1501-10	25235847	50616129	83235766	25	12536											
ATP8A2	51761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26148985	26148985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr13:26148985G>T	ENST00000381655.2	+	19	1844	c.1702G>T	c.(1702-1704)Gaa>Taa	p.E568*	ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.E528*|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	528					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E568*(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TAATGTCCTGGAATTTTCTAG	0.323																																																1	Substitution - Nonsense(1)	kidney(1)											121	114	116					13																	26148985		1805	4068	5873	SO:0001587	stop_gained	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1702G>T	13.37:g.26148985G>T	ENSP00000371070:p.Glu568*		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Nonsense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	43	10.375460	0.99393	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1327	0.93414	0.0:0.0:1.0:0.0	.	.	.	.	X	568;528;348	.	ENSP00000255283:E528X	E	+	1	0	ATP8A2	25046985	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.654000	0.83653	2.520000	0.84964	0.563000	0.77884	GAA		0.323	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		T	26148985	G	T	26148985	4	4	206	1	0	0	0	0	0	1	0	0	1193	1175	41	4	1776	4	ATP8A2	13	26148985	Nonsense_Mutation	SNP	G	TCGA-B0-5400-01A-01D-1501-10		26148985	89020893	26	12537											
SEC11A	23478	broad.mit.edu;ucsc.edu	37	15	85230906	85230906	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr15:85230906T>C	ENST00000268220.7	-	3	901	c.261A>G	c.(259-261)atA>atG	p.I87M	SEC11A_ENST00000560266.1_Missense_Mutation_p.I87M|SEC11A_ENST00000558134.1_Missense_Mutation_p.I87M|SEC11A_ENST00000455959.3_Missense_Mutation_p.I61M|RP11-245C17.2_ENST00000558044.1_RNA	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	87					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)	p.I87M(1)		ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CTCTTCCTTCTATCCTAAAAA	0.378																																																1	Substitution - Missense(1)	kidney(1)											190	178	181					15																	85230906		1845	4099	5944	SO:0001583	missense	23478			AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"SEC11-like 1 (S. cerevisiae)"	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.261A>G	15.37:g.85230906T>C	ENSP00000268220:p.Ile87Met		B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Missense_Mutation	SNP	ENST00000268220.7	37	CCDS45340.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520448	0.64747	.	.	ENSG00000140612	ENST00000268220;ENST00000455959	.	.	.	5.68	4.5	0.54988	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S24/S26A/S26B (1);	0.000000	0.85682	D	0.000000	T	0.77315	0.4112	M	0.80422	2.495	0.58432	D	0.999998	D	0.53885	0.963	D	0.68943	0.961	T	0.80127	-0.1512	9	0.87932	D	0	.	10.6615	0.45704	0.0:0.0:0.1604:0.8396	.	87	P67812	SC11A_HUMAN	M	87;61	.	ENSP00000268220:I87M	I	-	3	3	SEC11A	83031910	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.624000	0.46444	2.176000	0.68965	0.477000	0.44152	ATA		0.378	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	NM_014300		C	85230906	T	C	85230906	3	2	206	1	0	0	0	0	1	0	0	0	13984	1512	53	3	294	3	SEC11A	15	85230906	Missense_Mutation	SNP	T	TCGA-B0-5400-01A-01D-1501-10		85230906	17300486	27	12538											
GOT2	2806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58743325	58743325	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr16:58743325T>C	ENST00000245206.5	-	9	1294	c.1166A>G	c.(1165-1167)gAa>gGa	p.E389G	GOT2_ENST00000434819.2_Missense_Mutation_p.E346G	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	389					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.E389G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	ACTCACCTGTTCAGGCTTTAG	0.423																																																1	Substitution - Missense(1)	kidney(1)											118	102	107					16																	58743325		2198	4300	6498	SO:0001583	missense	2806				CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1166A>G	16.37:g.58743325T>C	ENSP00000245206:p.Glu389Gly		B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.585584	0.86748	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	T;T	0.26373	1.74;1.74	5.25	5.25	0.73442	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.91406	3.205	0.80722	D	1	B;P	0.45044	0.21;0.849	P;P	0.48770	0.589;0.536	T	0.59726	-0.7400	9	.	.	.	0.3295	14.3595	0.66761	0.0:0.0:0.0:1.0	.	346;389	E7ERW2;P00505	.;AATM_HUMAN	G	389;346	ENSP00000245206:E389G;ENSP00000394100:E346G	.	E	-	2	0	GOT2	57300826	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.936000	0.87665	1.981000	0.57761	0.528000	0.53228	GAA		0.423	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			C	58743325	T	C	58743325	3	2	206	1	0	0	0	0	1	0	0	0	6583	1783	62	3	134	3	GOT2	16	58743325	Missense_Mutation	SNP	T	TCGA-B0-5400-01A-01D-1501-10		58743325	31611428	28	12539											
DLG4	1742	broad.mit.edu	37	17	7111517	7111517	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr17:7111517G>T	ENST00000399506.2	-	2	263	c.72C>A	c.(70-72)caC>caA	p.H24Q	DLG4_ENST00000485100.1_Missense_Mutation_p.H24Q|DLG4_ENST00000302955.6_Missense_Mutation_p.H24Q|DLG4_ENST00000399510.2_Missense_Mutation_p.H67Q			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	24					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.H67Q(1)|p.H24Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GGGCCGGGCTGTGCTCCAGAG	0.682																																																2	Substitution - Missense(2)	kidney(2)											85	98	94					17																	7111517		1982	4125	6107	SO:0001583	missense	1742			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.72C>A	17.37:g.7111517G>T	ENSP00000382425:p.His24Gln		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37		.	.	.	.	.	.	.	.	.	.	G	13.77	2.335460	0.41398	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	3.88	3.88	0.44766	.	.	.	.	.	T	0.47673	0.1458	M	0.73962	2.25	0.33226	D	0.555302	B;B;B;B	0.30727	0.034;0.292;0.003;0.001	B;B;B;B	0.39904	0.178;0.313;0.087;0.008	T	0.55522	-0.8128	9	0.13853	T	0.58	.	13.3331	0.60500	0.0:0.0:1.0:0.0	.	67;24;24;67	B9EGL1;G5E939;O14909;P78352-2	.;.;.;.	Q	24;24;67;67;67;24;24	ENSP00000382425:H24Q;ENSP00000307471:H24Q;ENSP00000382428:H67Q;ENSP00000388122:H24Q	ENSP00000293813:H67Q	H	-	3	2	DLG4	7052241	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.362000	0.34148	1.978000	0.57642	0.491000	0.48974	CAC		0.682	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		T	7111517	G	T	7111517	3	4	206	1	0	0	0	0	1	0	0	0	4559	1368	48	4	2178	4	DLG4	17	7111517	Missense_Mutation	SNP	G	TCGA-B0-5400-01A-01D-1501-10		7111517	74083693	29	12540											
CHD3	1107	broad.mit.edu;hgsc.bcm.edu	37	17	7801818	7801818	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr17:7801818C>A	ENST00000330494.7	+	13	2206	c.2056C>A	c.(2056-2058)Cta>Ata	p.L686I	CHD3_ENST00000380358.4_Missense_Mutation_p.L745I|CHD3_ENST00000358181.4_Missense_Mutation_p.L686I	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	686					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L686I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTCCAGAGAACTAATTATGGG	0.507																																																1	Substitution - Missense(1)	kidney(1)											62	63	62					17																	7801818		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2056C>A	17.37:g.7801818C>A	ENSP00000332628:p.Leu686Ile		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037766	0.35989	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90324	-2.65;-2.59;-2.59	4.84	2.85	0.33270	.	0.000000	0.35936	N	0.002892	D	0.84665	0.5522	L	0.47190	1.495	0.33217	D	0.554155	P;B;B	0.35872	0.525;0.39;0.39	B;B;B	0.32980	0.156;0.099;0.142	D	0.85916	0.1443	10	0.35671	T	0.21	-10.0689	9.7349	0.40382	0.0:0.8269:0.0:0.1731	.	686;686;745	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	I	745;686;686	ENSP00000369716:L745I;ENSP00000350907:L686I;ENSP00000332628:L686I	ENSP00000332628:L686I	L	+	1	2	CHD3	7742543	0.671000	0.27521	1.000000	0.80357	0.985000	0.73830	0.161000	0.16481	1.401000	0.46761	0.561000	0.74099	CTA		0.507	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		A	7801818	C	A	7801818	3	1	206	1	0	0	0	0	1	0	0	0	3328	564	20	4	2387	4	CHD3	17	7801818	Missense_Mutation	SNP	C	TCGA-B0-5400-01A-01D-1501-10	690301	7801818	73393392	30	12541											
KRT32	3882	broad.mit.edu;hgsc.bcm.edu	37	17	39619147	39619147	+	Silent	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr17:39619147G>A	ENST00000225899.3	-	6	1255	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	384	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.D384D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GGGCCCGGACGTCCAGCAGCA	0.637																																																1	Substitution - coding silent(1)	kidney(1)											80	80	80					17																	39619147		2203	4300	6503	SO:0001819	synonymous_variant	3882			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1152C>T	17.37:g.39619147G>A				Silent	SNP	ENST00000225899.3	37	CCDS11393.1																																																																																				0.637	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		A	39619147	G	A	39619147	2	1	206	1	0	0	0	0	0	0	0	1	8470	1136	40	1		1	KRT32	17	39619147	Silent	SNP	G	TCGA-B0-5400-01A-01D-1501-10	31817329	39619147	41576063	31	12542											
DNAJC7	7266	broad.mit.edu;ucsc.edu	37	17	40148366	40148366	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr17:40148366A>G	ENST00000457167.4	-	4	604	c.368T>C	c.(367-369)cTa>cCa	p.L123P	DNAJC7_ENST00000316603.7_Missense_Mutation_p.L67P|DNAJC7_ENST00000426588.3_Missense_Mutation_p.L67P	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	123					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.L123P(1)|p.L113P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ATCCAGTTCTAGGGCTCTCTG	0.502																																					Colon(63;618 1117 8600 10857 19751)											2	Substitution - Missense(2)	kidney(2)											94	87	89					17																	40148366		1905	4138	6043	SO:0001583	missense	7266			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.368T>C	17.37:g.40148366A>G	ENSP00000406463:p.Leu123Pro		Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948190	0.73787	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.80304	0.76;-1.36;-1.36	5.47	5.47	0.80525	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.205916	0.42682	D	0.000663	D	0.86838	0.6029	M	0.66939	2.045	0.80722	D	1	B;P;B	0.52463	0.056;0.953;0.446	B;P;B	0.59171	0.053;0.853;0.064	D	0.86939	0.2078	10	0.46703	T	0.11	-2.6037	15.8531	0.78952	1.0:0.0:0.0:0.0	.	112;67;123	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	P	123;67;67	ENSP00000406463:L123P;ENSP00000394327:L67P;ENSP00000313311:L67P	ENSP00000313311:L67P	L	-	2	0	DNAJC7	37401892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.932000	0.92897	2.203000	0.70933	0.533000	0.62120	CTA		0.502	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			G	40148366	A	G	40148366	3	3	206	1	0	0	0	0	1	0	0	0	4656	420	15	3	1160	3	DNAJC7	17	40148366	Missense_Mutation	SNP	A	TCGA-B0-5400-01A-01D-1501-10	529219	40148366	41046844	32	12543											
PIGN	23556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	59815498	59815498	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr18:59815498A>G	ENST00000357637.5	-	8	1038	c.623T>C	c.(622-624)tTa>tCa	p.L208S	PIGN_ENST00000400334.3_Missense_Mutation_p.L208S	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	208					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.L208S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TAATAAATGTAAGAAAAAAAC	0.294																																																1	Substitution - Missense(1)	kidney(1)											34	31	32					18																	59815498		1741	3915	5656	SO:0001583	missense	23556			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.623T>C	18.37:g.59815498A>G	ENSP00000350263:p.Leu208Ser		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588313	0.86851	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.36878	1.23;1.23	5.73	5.73	0.89815	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000002	T	0.67730	0.2924	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74864	-0.3519	9	.	.	.	-13.5377	16.0325	0.80588	1.0:0.0:0.0:0.0	.	208;208	B2RCI8;O95427	.;PIGN_HUMAN	S	208	ENSP00000350263:L208S;ENSP00000383188:L208S	.	L	-	2	0	PIGN	57966478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.082000	0.89513	2.180000	0.69256	0.528000	0.53228	TTA		0.294	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		G	59815498	A	G	59815498	3	3	206	1	0	0	0	0	1	0	0	0	11895	372	13	3	2268	3	PIGN	18	59815498	Missense_Mutation	SNP	A	TCGA-B0-5400-01A-01D-1501-10		59815498	18261750	33	12544											
PAPL	390928	broad.mit.edu	37	19	39591391	39591391	+	Silent	SNP	T	T	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr19:39591391T>G	ENST00000331256.5	+	7	979	c.705T>G	c.(703-705)ggT>ggG	p.G235G	PAPL_ENST00000594229.1_Missense_Mutation_p.V194G	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		235						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)	p.G235G(1)									GGGATCTGGGTCCCGCCCACA	0.622																																																1	Substitution - coding silent(1)	kidney(1)											62	65	64					19																	39591391		2203	4300	6503	SO:0001819	synonymous_variant	390928																														ENST00000331256.5:c.705T>G	19.37:g.39591391T>G			B2RN68	Silent	SNP	ENST00000331256.5	37	CCDS33018.1																																																																																				0.622	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			G	39591391	T	G	39591391	2	3	206	1	0	0	0	0	0	0	0	1	11429	1654	58	5		5	PAPL	19	39591391	Silent	SNP	T	TCGA-B0-5400-01A-01D-1501-10		39591391	19537592	34	12545											
LILRB5	10990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54760570	54760570	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr19:54760570G>A	ENST00000316219.5	-	3	244	c.137C>T	c.(136-138)aCc>aTc	p.T46I	LILRB5_ENST00000449561.2_Missense_Mutation_p.T46I|LILRB5_ENST00000345866.6_Missense_Mutation_p.T46I|LILRB5_ENST00000450632.1_Missense_Mutation_p.T46I	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	46	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.T46I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACACCAGAGGGTCACGGGCTT	0.622																																																2	Substitution - Missense(2)	kidney(2)											85	89	88					19																	54760570		2203	4300	6503	SO:0001583	missense	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.137C>T	19.37:g.54760570G>A	ENSP00000320390:p.Thr46Ile		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127772	0.37533	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.18	2.12	0.27331	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.232248	0.30347	N	0.009824	T	0.32224	0.0822	M	0.62154	1.92	0.09310	N	1	D;D;D;D;D	0.89917	0.992;0.999;1.0;1.0;0.998	D;D;D;D;D	0.76575	0.959;0.967;0.947;0.988;0.949	T	0.02991	-1.1085	10	0.66056	D	0.02	.	6.5944	0.22664	0.1402:0.0:0.8598:0.0	.	46;37;46;46;46	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	I	46	ENSP00000320390:T46I;ENSP00000414225:T46I;ENSP00000406478:T46I;ENSP00000263430:T46I	ENSP00000320390:T46I	T	-	2	0	LILRB5	59452382	0.108000	0.22018	0.030000	0.17652	0.002000	0.02628	0.642000	0.24735	0.670000	0.31165	-0.203000	0.12734	ACC		0.622	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			A	54760570	G	A	54760570	3	1	206	1	0	0	0	0	1	0	0	0	8796	1261	44	2	1682	2	LILRB5	19	54760570	Missense_Mutation	SNP	G	TCGA-B0-5400-01A-01D-1501-10	15169179	54760570	4368413	35	12546											
NLRP9	338321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56243438	56243438	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr19:56243438G>A	ENST00000332836.2	-	2	1786	c.1759C>T	c.(1759-1761)Cat>Tat	p.H587Y		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	587						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.H587Y(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGTTGACAATGCTTCAGGCAG	0.373																																																1	Substitution - Missense(1)	kidney(1)											95	90	92					19																	56243438		2203	4300	6503	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1759C>T	19.37:g.56243438G>A	ENSP00000331857:p.His587Tyr		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	0.891	-0.725468	0.03158	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.52295	0.67	2.49	0.192	0.15134	.	.	.	.	.	T	0.39200	0.1069	M	0.67700	2.07	0.09310	N	1	B	0.23058	0.079	B	0.23852	0.049	T	0.33033	-0.9884	9	0.28530	T	0.3	.	2.9692	0.05917	0.1558:0.0:0.576:0.2681	.	587	Q7RTR0	NALP9_HUMAN	Y	587	ENSP00000331857:H587Y	ENSP00000331857:H587Y	H	-	1	0	NLRP9	60935250	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.153000	0.10144	0.138000	0.18790	-0.151000	0.13558	CAT		0.373	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		A	56243438	G	A	56243438	3	1	206	1	0	0	0	0	1	0	0	0	10486	1319	46	2	1248	2	NLRP9	19	56243438	Missense_Mutation	SNP	G	TCGA-B0-5400-01A-01D-1501-10	1482868	56243438	2885545	36	12547											
CLIC6	54102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	36081084	36081084	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr21:36081084C>T	ENST00000360731.3	+	5	1751	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	CLIC6_ENST00000349499.2_Missense_Mutation_p.T566M			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	584	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.T566M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						ATAAAAAACACGAAGAAGGAT	0.458																																																1	Substitution - Missense(1)	kidney(1)											66	56	59					21																	36081084		2203	4300	6503	SO:0001583	missense	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1751C>T	21.37:g.36081084C>T	ENSP00000353959:p.Thr584Met		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		.	.	.	.	.	.	.	.	.	.	C	16.58	3.162252	0.57368	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.94092	-3.35;-3.35	4.77	4.77	0.60923	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.109431	0.64402	D	0.000008	D	0.96706	0.8925	M	0.84683	2.71	0.47407	D	0.999416	D;D	0.89917	1.0;1.0	P;D	0.63793	0.879;0.918	D	0.97274	0.9913	10	0.87932	D	0	7.7685	18.3353	0.90286	0.0:1.0:0.0:0.0	.	584;566	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	M	584;566	ENSP00000353959:T584M;ENSP00000290332:T566M	ENSP00000290332:T566M	T	+	2	0	CLIC6	35002954	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	5.787000	0.69013	2.634000	0.89283	0.655000	0.94253	ACG		0.458	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			T	36081084	C	T	36081084	3	4	206	1	0	0	0	0	1	0	0	0	3532	536	19	1	1711	1	CLIC6	21	36081084	Missense_Mutation	SNP	C	TCGA-B0-5400-01A-01D-1501-10		36081084	12048811	37	12548											
LOC391322	2952	broad.mit.edu;ucsc.edu	37	22	24373819	24373819	+	IGR	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chr22:24373819T>C	ENST00000248935.5	-	0	1066				KB-226F1.1_ENST00000608619.1_RNA	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN							glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	AATATTATTCTAAAACACAAT	0.517									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																																							0													57	54	55					22																	24373819		530	1323	1853	SO:0001628	intergenic_variant	391322	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML																													22.37:g.24373819T>C			O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	CCDS13822.1																																																																																				0.517	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			C	24373819	T	C	24373819	1	2	206	0	1	0	0	0	0	0	0	0	8877	1509	53	3		3	LOC391322	22	24373819	IGR	SNP	T	TCGA-B0-5400-01A-01D-1501-10		24373819	26930747	38	12549											
FRMPD4	9758	broad.mit.edu;ucsc.edu	37	X	12736620	12736620	+	Silent	SNP	C	C	A			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chrX:12736620C>A	ENST00000380682.1	+	16	4181	c.3675C>A	c.(3673-3675)ggC>ggA	p.G1225G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1225					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G1215G(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTGGCACAGGCAGCAGTGGCA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											53	60	58					X																	12736620		2203	4300	6503	SO:0001819	synonymous_variant	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3675C>A	X.37:g.12736620C>A			A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.587	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		A	12736620	C	A	12736620	2	1	206	1	0	0	0	0	0	0	0	1	6061	697	25	4		4	FRMPD4	23	12736620	Silent	SNP	C	TCGA-B0-5400-01A-01D-1501-10		12736620	142533940	39	12550											
PHF8	23133	broad.mit.edu;ucsc.edu	37	X	54043171	54043171	+	Splice_Site	SNP	T	T	C			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chrX:54043171T>C	ENST00000357988.5	-	6	921		c.e6-2		PHF8_ENST00000322659.8_Splice_Site|PHF8_ENST00000338946.6_Splice_Site|PHF8_ENST00000338154.6_Splice_Site	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.?(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGTCAGAACCTGGAGTAAAGA	0.473																																																2	Unknown(2)	kidney(2)											88	67	74					X																	54043171		2203	4300	6503	SO:0001630	splice_region_variant	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.563-2A>G	X.37:g.54043171T>C			B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Splice_Site	SNP	ENST00000357988.5	37	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990023	0.74589	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000396282;ENST00000322659	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4854	0.61361	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHF8	54059896	1.000000	0.71417	0.973000	0.42090	0.894000	0.52154	4.069000	0.57541	1.827000	0.53221	0.417000	0.27973	.		0.473	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	Intron	C	54043171	T	C	54043171	5	2	206	1	0	0	0	0	0	0	1	0	11842	1594	55	3	2859	3	PHF8	23	54043171	Splice_Site	SNP	T	TCGA-B0-5400-01A-01D-1501-10	41306551	54043171	101227389	40	12551											
ODZ1	10178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123630881	123630881	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5400-01A-01D-1501-10	TCGA-B0-5400-11A-01D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e7128330-77b1-48be-b9f0-be986aa63ea8	c580da30-e65c-4abb-9903-3749bde02be4	g.chrX:123630881C>G	ENST00000371130.3	-	20	3743	c.3680G>C	c.(3679-3681)aGt>aCt	p.S1227T	TENM1_ENST00000422452.2_Missense_Mutation_p.S1227T|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1227					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S1229T(1)									TTCCAAAATACTAACGGAGTT	0.398																																																1	Substitution - Missense(1)	kidney(1)											51	53	52					X																	123630881		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3680G>C	X.37:g.123630881C>G	ENSP00000360171:p.Ser1227Thr		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366424	0.24771	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90261	-2.51;-2.64	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.207615	0.48767	D	0.000178	T	0.74741	0.3756	N	0.01284	-0.91	0.46798	D	0.999203	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.73924	-0.3829	10	0.02654	T	1	.	18.7655	0.91871	0.0:1.0:0.0:0.0	.	1226;1227;1227	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	1227	ENSP00000360171:S1227T;ENSP00000403954:S1227T	ENSP00000360171:S1227T	S	-	2	0	ODZ1	123458562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.977000	0.56874	2.376000	0.81061	0.600000	0.82982	AGT		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		G	123630881	C	G	123630881	3	3	206	1	0	0	0	0	1	0	0	0	10836	565	20	4	4570	4	ODZ1	23	123630881	Missense_Mutation	SNP	C	TCGA-B0-5400-01A-01D-1501-10	69587710	123630881	31639679	41	12552											
JAK1	3716	hgsc.bcm.edu;ucsc.edu	37	1	65330477	65330479	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr1:65330477_65330479delTTG	ENST00000342505.4	-	8	1415_1417	c.1167_1169delCAA	c.(1165-1170)aacaag>aag	p.N389del		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	389	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TACCATTTTCTTGTTGTCCTGCT	0.419			Mis		ALL																																		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0																																										SO:0001651	inframe_deletion	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1167_1169delCAA	1.37:g.65330480_65330482delTTG	ENSP00000343204:p.Asn389del		Q59GQ2|Q9UD26	In_Frame_Del	DEL	ENST00000342505.4	37	CCDS41346.1																																																																																				0.419	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		-	65330479	TTG	-	65330477	7	5	207	1	0	1	0	1	0	0	0	0	7939	1609	56	0	2367	0	JAK1	1	65330477	In_Frame_Del	DEL	TTG	TCGA-B0-5402-01A-01D-1501-10		65330477	183920144	1	12553											
C1orf103	55791	hgsc.bcm.edu;ucsc.edu	37	1	111490650	111490652	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr1:111490650_111490652delTCT	ENST00000369763.4	-	4	2629_2631	c.2239_2241delAGA	c.(2239-2241)agadel	p.R747del	LRIF1_ENST00000485275.2_In_Frame_Del_p.R211del|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_In_Frame_Del_p.R211del	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	747					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CCTGCTTAAGTCTTCTTATTTTT	0.355																																																0																																										SO:0001651	inframe_deletion	0			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.2239_2241delAGA	1.37:g.111490653_111490655delTCT	ENSP00000358778:p.Arg747del		Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	In_Frame_Del	DEL	ENST00000369763.4	37	CCDS30800.1																																																																																				0.355	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		-	111490652	TCT	-	111490650	7	5	207	1	0	1	0	1	0	0	0	0	1979	1664	58	0	72	0	C1orf103	1	111490650	In_Frame_Del	DEL	TCT	TCGA-B0-5402-01A-01D-1501-10	46160173	111490650	137759971	2	12554											
MAP4K4	9448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	102460601	102460601	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr2:102460601G>A	ENST00000347699.4	+	12	1061	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	MAP4K4_ENST00000324219.4_Missense_Mutation_p.R354Q|MAP4K4_ENST00000413150.2_Missense_Mutation_p.R354Q|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R207Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R354Q|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R334Q|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R207Q|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R354Q	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	354					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R354Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTCTTCGCCGAGATTTCCTG	0.512																																																1	Substitution - Missense(1)	kidney(1)											68	62	64					2																	102460601		1934	4134	6068	SO:0001583	missense	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1061G>A	2.37:g.102460601G>A	ENSP00000314363:p.Arg354Gln		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065933	0.93898	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.75367	1.03;-0.77;1.01;-0.44;1.01;-0.45;-0.75;-0.93;-0.76	5.72	5.72	0.89469	.	0.060184	0.64402	D	0.000002	D	0.87669	0.6235	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;0.994;0.994;1.0;0.997;0.997	D;D;D;D;D;D;D;D;D;D	0.80764	0.98;0.987;0.98;0.921;0.991;0.921;0.921;0.994;0.964;0.964	D	0.86713	0.1937	10	0.42905	T	0.14	.	19.8673	0.96808	0.0:0.0:1.0:0.0	.	334;354;334;207;354;354;354;354;354;354	B7Z388;B7Z3V5;E7ESS2;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	Q	354;354;354;207;354;207;354;316;334	ENSP00000392830:R354Q;ENSP00000313644:R354Q;ENSP00000281111:R354Q;ENSP00000303600:R207Q;ENSP00000389752:R354Q;ENSP00000387370:R207Q;ENSP00000314363:R354Q;ENSP00000409720:R316Q;ENSP00000343658:R334Q	ENSP00000303600:R207Q	R	+	2	0	MAP4K4	101827033	1.000000	0.71417	0.969000	0.41365	0.993000	0.82548	9.864000	0.99589	2.698000	0.92095	0.655000	0.94253	CGA		0.512	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		A	102460601	G	A	102460601	3	1	207	1	0	0	0	0	1	0	0	0	9264	1058	37	1	1107	1	MAP4K4	2	102460601	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10		102460601	140738772	3	12555											
TMEM37	6344	broad.mit.edu	37	2	120194742	120194742	+	IGR	SNP	T	T	C			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr2:120194742T>C	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Missense_Mutation_p.V100A|TMEM37_ENST00000409826.1_Missense_Mutation_p.V112A	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.V100A(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TTGGCCGTGGTGGCCGCCATT	0.632																																																1	Substitution - Missense(1)	kidney(1)											91	86	88					2																	120194742		2203	4300	6503	SO:0001628	intergenic_variant	140738				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194742T>C			Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408628	0.42715	.	.	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.74	3.59	0.41128	.	0.079777	0.48286	D	0.000181	T	0.43322	0.1242	L	0.46885	1.475	0.34148	D	0.667158	B	0.21753	0.06	B	0.20184	0.028	T	0.51896	-0.8647	9	0.49607	T	0.09	-24.6	8.5646	0.33531	0.0:0.1646:0.0:0.8354	.	100	Q8WXS4	CCGL_HUMAN	A	112;100	.	ENSP00000303148:V100A	V	+	2	0	TMEM37	119911212	1.000000	0.71417	0.869000	0.34112	0.854000	0.48673	3.501000	0.53325	0.854000	0.35336	0.459000	0.35465	GTG		0.632	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			C	120194742	T	C	120194742	1	2	207	0	1	0	0	0	0	0	0	0	16163	1696	59	3		3	TMEM37	2	120194742	IGR	SNP	T	TCGA-B0-5402-01A-01D-1501-10	17734141	120194742	123004631	4	12556											
ZRANB3	84083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	135966529	135966529	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr2:135966529C>G	ENST00000264159.6	-	18	2631	c.2515G>C	c.(2515-2517)Gtt>Ctt	p.V839L	ZRANB3_ENST00000401392.1_Missense_Mutation_p.V837L|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.V837L	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	839					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.V302L(1)|p.V839L(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GCTACGGCAACATCTTCTTTG	0.393																																																2	Substitution - Missense(2)	kidney(2)											122	116	118					2																	135966529		1890	4115	6005	SO:0001583	missense	84083			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2515G>C	2.37:g.135966529C>G	ENSP00000264159:p.Val839Leu		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055686	0.75960	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.92752	-3.1;-3.09;-3.08	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.93184	0.7829	M	0.76002	2.32	0.40085	D	0.97618	D;D	0.63880	0.987;0.993	P;P	0.51193	0.46;0.662	D	0.93392	0.6752	10	0.56958	D	0.05	-20.7839	12.0209	0.53342	0.0:0.9203:0.0:0.0797	.	839;837	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	L	302;302;837;839;837	ENSP00000383979:V837L;ENSP00000264159:V839L;ENSP00000441320:V837L	ENSP00000264159:V839L	V	-	1	0	ZRANB3	135682999	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.653000	0.54446	2.709000	0.92574	0.655000	0.94253	GTT		0.393	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		G	135966529	C	G	135966529	3	3	207	1	0	0	0	0	1	0	0	0	18229	478	17	4	740	4	ZRANB3	2	135966529	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10	15771787	135966529	107232844	5	12557											
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238277320	238277320	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr2:238277320C>T	ENST00000295550.4	-	10	5238	c.4786G>A	c.(4786-4788)Gtg>Atg	p.V1596M	COL6A3_ENST00000409809.1_Missense_Mutation_p.V1390M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V989M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1395M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1396M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1390M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1596	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1596M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACTCTCGCACTGTGAAGACC	0.552																																																1	Substitution - Missense(1)	kidney(1)											188	169	175					2																	238277320		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4786G>A	2.37:g.238277320C>T	ENSP00000295550:p.Val1596Met		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669365	0.47677	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.36	3.53	0.40419	von Willebrand factor, type A (3);	0.145434	0.31290	N	0.007918	D	0.88782	0.6530	M	0.89287	3.02	0.29667	N	0.8428	D;D;D	0.89917	1.0;0.999;0.993	D;D;D	0.81914	0.995;0.986;0.938	T	0.83291	-0.0033	10	0.40728	T	0.16	.	7.7095	0.28669	0.0:0.7239:0.1342:0.1419	.	989;1390;1596	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	M	1596;1395;1390;989;1390;1396	ENSP00000295550:V1596M;ENSP00000315609:V1395M;ENSP00000315873:V1390M;ENSP00000418285:V989M;ENSP00000386844:V1390M;ENSP00000295546:V1396M	ENSP00000295550:V1596M	V	-	1	0	COL6A3	237942059	0.912000	0.30974	0.886000	0.34754	0.964000	0.63967	2.140000	0.42159	1.246000	0.43901	0.655000	0.94253	GTG		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238277320	C	T	238277320	3	4	207	1	0	0	0	0	1	0	0	0	3703	565	20	2	4887	2	COL6A3	2	238277320	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10	102310791	238277320	4922053	6	12558											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191572	10191572	+	Nonsense_Mutation	SNP	G	G	T	rs121913345		TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr3:10191572G>T	ENST00000256474.2	+	3	1405	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.E148*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	189					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E189K(3)|p.E189*(2)|p.E189fs*12(1)|p.E189fs*13(1)|p.E189fs*25(1)|p.Y185fs*11(1)|p.L188>?(1)|p.D187_N193del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGAAGATCTGGAAGACCACCC	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Deletion - Frameshift(4)|Substitution - Missense(3)|Substitution - Nonsense(2)|Complex(1)|Deletion - In frame(1)	kidney(11)	GRCh37	CD983007	VHL	D							77	70	72					3																	10191572		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.565G>T	3.37:g.10191572G>T	ENSP00000256474:p.Glu189*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850148	0.91277	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.97	4.97	0.65823	.	0.057481	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-3.955	16.1249	0.81386	0.0:0.0:1.0:0.0	.	.	.	.	X	189;148;107	.	ENSP00000256474:E189X	E	+	1	0	VHL	10166572	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.062000	0.76706	2.735000	0.93741	0.655000	0.94253	GAA		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191572	G	T	10191572	4	4	207	1	0	0	0	0	0	1	0	0	17167	1175	41	4	575	4	VHL	3	10191572	Nonsense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10		10191572	187830858	7	12559											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47164342	47164343	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	GA	GA	GA	-	GA	GA	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr3:47164342_47164343delGA	ENST00000409792.3	-	3	1825_1826	c.1783_1784delTC	c.(1783-1785)tcafs	p.S595fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	595					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTACCTTTTGAACAAGGTGTC	0.307			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1783_1784delTC	3.37:g.47164342_47164343delGA	ENSP00000386759:p.Ser595fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																				0.307	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47164343	GA	-	47164342	7	5	207	1	0	1	0	1	0	0	0	0	14137	1294	45	0	5986	0	SETD2	3	47164342	Frame_Shift_Del	DEL	GA	TCGA-B0-5402-01A-01D-1501-10	36972770	47164342	150858088	8	12560											
IP6K1	9807	broad.mit.edu;ucsc.edu	37	3	49775709	49775709	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr3:49775709G>A	ENST00000321599.4	-	3	671	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	IP6K1_ENST00000395238.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.R124W|IP6K1_ENST00000460540.1_5'UTR	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	124					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.R124W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						CTGCCTGACCGGTGCAGGCTC	0.557																																																1	Substitution - Missense(1)	kidney(1)											132	108	116					3																	49775709		2203	4300	6503	SO:0001583	missense	9807			D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"inositol hexaphosphate kinase 1"	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.370C>T	3.37:g.49775709G>A	ENSP00000323780:p.Arg124Trp		A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164771	0.94727	.	.	ENSG00000176095	ENST00000321599;ENST00000468463	T;T	0.64260	-0.09;-0.09	5.93	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	L	0.48362	1.52	0.80722	D	1	D;B	0.76494	0.999;0.028	P;B	0.50082	0.63;0.01	T	0.64407	-0.6415	10	0.72032	D	0.01	-17.4589	10.3589	0.43980	0.0716:0.0:0.7841:0.1442	.	124;124	C9JNA8;Q92551	.;IP6K1_HUMAN	W	124	ENSP00000323780:R124W;ENSP00000420467:R124W	ENSP00000323780:R124W	R	-	1	2	IP6K1	49750713	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.876000	0.69667	2.814000	0.96858	0.563000	0.77884	CGG		0.557	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	NM_153273		A	49775709	G	A	49775709	3	1	207	1	0	0	0	0	1	0	0	0	7790	1115	39	1	971	1	IP6K1	3	49775709	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	2611367	49775709	148246721	9	12561											
CHMP2B	25978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	87302584	87302584	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr3:87302584G>A	ENST00000263780.4	+	5	693	c.455G>A	c.(454-456)gGt>gAt	p.G152D	CHMP2B_ENST00000494980.1_Missense_Mutation_p.G122D|CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Missense_Mutation_p.G111D	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	152					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)	p.G152D(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ATCTTTGACGGTTCTGATGAC	0.358																																																1	Substitution - Missense(1)	kidney(1)											118	111	114					3																	87302584		2203	4299	6502	SO:0001583	missense	25978			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"Charged multivesicular body proteins"	24537	protein-coding gene	gene with protein product	"VPS2 homolog B (S. cerevisiae)"	609512	"chromatin modifying protein 2B"			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.455G>A	3.37:g.87302584G>A	ENSP00000263780:p.Gly152Asp		B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	37	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	G	7.190	0.591257	0.13812	.	.	ENSG00000083937	ENST00000471660;ENST00000263780;ENST00000494980	T;T;T	0.70164	-0.46;-0.46;-0.46	5.8	5.8	0.92144	.	0.272984	0.41823	D	0.000813	T	0.33235	0.0856	N	0.01431	-0.87	0.42558	D	0.993138	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.41858	-0.9485	10	0.07482	T	0.82	-2.0316	9.1578	0.37002	0.077:0.2609:0.662:0.0	.	111;152	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	D	111;152;122	ENSP00000419998:G111D;ENSP00000263780:G152D;ENSP00000418920:G122D	ENSP00000263780:G152D	G	+	2	0	CHMP2B	87385274	0.192000	0.23301	1.000000	0.80357	0.864000	0.49448	0.620000	0.24403	2.734000	0.93682	0.650000	0.86243	GGT		0.358	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		A	87302584	G	A	87302584	3	1	207	1	0	0	0	0	1	0	0	0	3357	1261	44	2	473	2	CHMP2B	3	87302584	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	37526875	87302584	110719846	10	12562											
FAM194A	131831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	150384662	150384662	+	Missense_Mutation	SNP	C	C	A	rs150155678		TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr3:150384662C>A	ENST00000295910.6	-	13	1692	c.1640G>T	c.(1639-1641)gGa>gTa	p.G547V	FAM194A_ENST00000491361.1_Missense_Mutation_p.G401V	NM_152394.3	NP_689607.2												p.G547V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GATGCGGACTCCAATATAACG	0.413																																																1	Substitution - Missense(1)	kidney(1)											124	120	121					3																	150384662		2203	4300	6503	SO:0001583	missense	131831																														ENST00000295910.6:c.1640G>T	3.37:g.150384662C>A	ENSP00000295910:p.Gly547Val			Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048614	0.75846	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.11495	2.77;2.77	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000007	T	0.33614	0.0869	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02184	-1.1199	10	0.72032	D	0.01	-23.3866	17.9829	0.89147	0.0:1.0:0.0:0.0	.	547	Q7L0X2	F194A_HUMAN	V	547;401;505	ENSP00000295910:G547V;ENSP00000419366:G401V	ENSP00000295910:G547V	G	-	2	0	FAM194A	151867352	1.000000	0.71417	0.887000	0.34795	0.993000	0.82548	5.067000	0.64357	2.544000	0.85801	0.655000	0.94253	GGA		0.413	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			A	150384662	C	A	150384662	3	1	207	1	0	0	0	0	1	0	0	0	5528	855	30	4	359	4	FAM194A	3	150384662	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10	63082078	150384662	47637768	11	12563											
RARRES1	5918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	158415529	158415529	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr3:158415529C>G	ENST00000237696.5	-	6	1103	c.823G>C	c.(823-825)Gaa>Caa	p.E275Q	RP11-379F4.6_ENST00000606185.1_lincRNA	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	275					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E275Q(1)		NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	GAGGCTTCTTCTGGTGTCTGT	0.413																																																1	Substitution - Missense(1)	kidney(1)											108	108	108					3																	158415529		2203	4300	6503	SO:0001583	missense	5918			U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"latexin-like"	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.823G>C	3.37:g.158415529C>G	ENSP00000237696:p.Glu275Gln		Q8N1D7	Missense_Mutation	SNP	ENST00000237696.5	37	CCDS3184.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667290	0.67814	.	.	ENSG00000118849	ENST00000237696	T	0.27402	1.67	5.73	3.86	0.44501	.	0.364959	0.25294	N	0.031710	T	0.45236	0.1332	M	0.66939	2.045	0.23739	N	0.996979	D	0.53312	0.959	P	0.53035	0.716	T	0.39251	-0.9623	10	0.46703	T	0.11	.	15.3807	0.74654	0.0:0.7364:0.2635:0.0	.	275	P49788	TIG1_HUMAN	Q	275	ENSP00000237696:E275Q	ENSP00000237696:E275Q	E	-	1	0	RARRES1	159898223	0.026000	0.19158	0.043000	0.18650	0.997000	0.91878	1.848000	0.39309	1.392000	0.46585	0.650000	0.86243	GAA		0.413	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1			G	158415529	C	G	158415529	3	3	207	1	0	0	0	0	1	0	0	0	13061	922	32	4	65	4	RARRES1	3	158415529	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10	8030867	158415529	39606901	12	12564											
NHEDC2	133308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	103988700	103988700	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr4:103988700T>C	ENST00000394785.3	-	2	639	c.8A>G	c.(7-9)gAt>gGt	p.D3G	SLC9B2_ENST00000503103.1_Missense_Mutation_p.D3G|SLC9B2_ENST00000362026.3_Missense_Mutation_p.D3G|SLC9B2_ENST00000339611.4_Missense_Mutation_p.D3G|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.D3G	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	3					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)	p.D3G(2)									TTTATCTTCATCCCCCATTAT	0.358																																																2	Substitution - Missense(2)	kidney(2)											183	157	166					4																	103988700		2203	4300	6503	SO:0001583	missense	0			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.8A>G	4.37:g.103988700T>C	ENSP00000378265:p.Asp3Gly		B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530584	0.27387	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	T;T;T;T;T	0.29655	1.83;1.77;1.83;1.56;1.63	3.84	2.61	0.31194	.	0.932865	0.08981	N	0.865743	T	0.24812	0.0602	L	0.40543	1.245	0.09310	N	1	B;B;B	0.24186	0.099;0.099;0.099	B;B;B	0.19946	0.027;0.017;0.017	T	0.25328	-1.0135	10	0.59425	D	0.04	-11.1297	6.4008	0.21638	0.218:0.0:0.0:0.782	.	3;3;3	B7Z676;E9PE63;Q86UD5	.;.;SL9B2_HUMAN	G	3	ENSP00000354574:D3G;ENSP00000345241:D3G;ENSP00000378265:D3G;ENSP00000425385:D3G;ENSP00000422477:D3G	ENSP00000345241:D3G	D	-	2	0	SLC9B2	104208149	0.007000	0.16637	0.001000	0.08648	0.052000	0.14988	1.547000	0.36190	0.792000	0.33850	0.533000	0.62120	GAT		0.358	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		C	103988700	T	C	103988700	3	2	207	1	0	0	0	0	1	0	0	0	10403	1435	50	3	1649	3	NHEDC2	4	103988700	Missense_Mutation	SNP	T	TCGA-B0-5402-01A-01D-1501-10		103988700	87165576	13	12565											
ADAM29	11086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	175896768	175896768	+	Missense_Mutation	SNP	C	C	T	rs544557652		TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr4:175896768C>T	ENST00000359240.3	+	5	762	c.92C>T	c.(91-93)cCg>cTg	p.P31L	ADAM29_ENST00000445694.1_Missense_Mutation_p.P31L|ADAM29_ENST00000404450.4_Missense_Mutation_p.P31L|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.P31L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	31			P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P31L(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CACAGCCCTCCGGATGTGGTG	0.517																																					Ovarian(140;1727 1835 21805 25838 41440)											2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											82	81	81					4																	175896768		2203	4300	6503	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.92C>T	4.37:g.175896768C>T	ENSP00000352177:p.Pro31Leu		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630296	0.14257	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000502305;ENST00000404450;ENST00000514159	T;T;T;D;T;T	0.81579	4.66;4.66;0.9;-1.51;4.66;4.66	4.36	1.46	0.22682	.	.	.	.	.	D	0.85124	0.5625	M	0.71206	2.165	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71580	-0.4550	8	.	.	.	.	2.5819	0.04820	0.1935:0.5128:0.1878:0.1059	.	31	Q9UKF5	ADA29_HUMAN	L	31	ENSP00000352177:P31L;ENSP00000414544:P31L;ENSP00000427674:P31L;ENSP00000422537:P31L;ENSP00000384229:P31L;ENSP00000423517:P31L	.	P	+	2	0	ADAM29	176133343	0.003000	0.15002	0.098000	0.21074	0.004000	0.04260	0.096000	0.15147	0.156000	0.19299	0.637000	0.83480	CCG		0.517	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				T	175896768	C	T	175896768	3	4	207	1	0	0	0	0	1	0	0	0	247	652	23	1	94	1	ADAM29	4	175896768	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10	71908068	175896768	15257508	14	12566											
FASTKD3	79072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	7867988	7867988	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr5:7867988C>T	ENST00000264669.5	-	2	345	c.209G>A	c.(208-210)gGa>gAa	p.G70E	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	70					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.G70E(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGGTCATTTCCATTTTTCGA	0.443																																																1	Substitution - Missense(1)	kidney(1)											93	91	91					5																	7867988		2203	4300	6503	SO:0001583	missense	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.209G>A	5.37:g.7867988C>T	ENSP00000264669:p.Gly70Glu		Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941073	0.34283	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.45668	0.89;0.89;0.89	5.05	5.05	0.67936	.	0.095587	0.41605	D	0.000845	T	0.42426	0.1202	M	0.69823	2.125	0.23953	N	0.996363	P	0.47106	0.89	B	0.38954	0.286	T	0.53229	-0.8468	10	0.66056	D	0.02	-26.1483	13.2711	0.60161	0.0:0.8408:0.1592:0.0	.	70	Q14CZ7	FAKD3_HUMAN	E	70;70;53	ENSP00000264669:G70E;ENSP00000426008:G70E;ENSP00000422443:G53E	ENSP00000264669:G70E	G	-	2	0	FASTKD3	7920988	0.007000	0.16637	0.477000	0.27303	0.637000	0.38172	1.992000	0.40737	2.644000	0.89710	0.655000	0.94253	GGA		0.443	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		T	7867988	C	T	7867988	3	4	207	1	0	0	0	0	1	0	0	0	5689	855	30	2	1803	2	FASTKD3	5	7867988	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10		7867988	173047272	15	12567											
PDZD2	23037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32088407	32088407	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr5:32088407C>A	ENST00000438447.1	+	20	5241	c.4853C>A	c.(4852-4854)cCc>cAc	p.P1618H	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1618H			O15018	PDZD2_HUMAN	PDZ domain containing 2	1618					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.P1618H(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTCATCTTCCCACCCAGGCT	0.552																																																1	Substitution - Missense(1)	kidney(1)											109	115	113					5																	32088407		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4853C>A	5.37:g.32088407C>A	ENSP00000402033:p.Pro1618His		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147684	0.57151	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.32515	1.45;1.45	5.08	-1.48	0.08745	.	0.000000	0.46442	D	0.000288	T	0.30885	0.0779	L	0.42245	1.32	0.09310	N	1	D	0.76494	0.999	D	0.63488	0.915	T	0.15896	-1.0421	10	0.29301	T	0.29	.	1.1078	0.01698	0.3811:0.3037:0.1368:0.1784	.	1618	O15018	PDZD2_HUMAN	H	1618;1419;1618	ENSP00000402033:P1618H;ENSP00000282493:P1618H	ENSP00000282493:P1618H	P	+	2	0	PDZD2	32124164	0.000000	0.05858	0.000000	0.03702	0.275000	0.26752	-0.138000	0.10374	0.160000	0.19432	0.655000	0.94253	CCC		0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			A	32088407	C	A	32088407	3	1	207	1	0	0	0	0	1	0	0	0	11703	623	22	4	4927	4	PDZD2	5	32088407	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10	24220419	32088407	148826853	16	12568											
HCN1	348980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	45262590	45262590	+	Silent	SNP	C	C	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr5:45262590C>T	ENST00000303230.4	-	8	2163	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	702					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A702A(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGCTGCAGACCGCGGTGGTGT	0.647																																																1	Substitution - coding silent(1)	kidney(1)											64	62	63					5																	45262590		2203	4300	6503	SO:0001819	synonymous_variant	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2106G>A	5.37:g.45262590C>T				Silent	SNP	ENST00000303230.4	37	CCDS3952.1																																																																																				0.647	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		T	45262590	C	T	45262590	2	4	207	1	0	0	0	0	0	0	0	1	6998	639	23	1		1	HCN1	5	45262590	Silent	SNP	C	TCGA-B0-5402-01A-01D-1501-10	13174183	45262590	135652670	17	12569											
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127664442	127664442	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr5:127664442G>A	ENST00000508053.1	-	40	5391	c.4417C>T	c.(4417-4419)Cgc>Tgc	p.R1473C	FBN2_ENST00000508989.1_Missense_Mutation_p.R1440C|FBN2_ENST00000262464.4_Missense_Mutation_p.R1473C|FBN2_ENST00000507835.1_Missense_Mutation_p.R323C			P35556	FBN2_HUMAN	fibrillin 2	1473	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R1473C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACTCGCAGCGATATGCACCC	0.478																																																2	Substitution - Missense(2)	kidney(2)											176	134	148					5																	127664442		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4417C>T	5.37:g.127664442G>A	ENSP00000424571:p.Arg1473Cys		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823158	0.71143	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.92545	-1.77;-1.77;-3.06;-3.06	4.97	4.03	0.46877	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.202654	0.35291	N	0.003307	D	0.96222	0.8768	M	0.90425	3.115	0.52501	D	0.999951	D;D	0.89917	0.999;1.0	D;D	0.70935	0.94;0.971	D	0.96232	0.9169	10	0.72032	D	0.01	.	13.468	0.61266	0.0:0.0:0.7479:0.2521	.	1440;1473	D6RJI3;P35556	.;FBN2_HUMAN	C	1473;1473;323;1440	ENSP00000262464:R1473C;ENSP00000424571:R1473C;ENSP00000426839:R323C;ENSP00000425596:R1440C	ENSP00000262464:R1473C	R	-	1	0	FBN2	127692341	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.287000	0.65645	2.742000	0.94016	0.655000	0.94253	CGC		0.478	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127664442	G	A	127664442	3	1	207	1	0	0	0	0	1	0	0	0	5705	1058	37	1	4449	1	FBN2	5	127664442	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	82401852	127664442	53250818	18	12570											
PCDHB6	56130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140530050	140530050	+	Missense_Mutation	SNP	G	G	C	rs3836745		TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr5:140530050G>C	ENST00000231136.1	+	1	212	c.212G>C	c.(211-213)aGa>aCa	p.R71T	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R71T(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGGGAACAGACAACATTTG	0.537																																																1	Substitution - Missense(1)	kidney(1)											86	95	92					5																	140530050		2203	4300	6503	SO:0001583	missense	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.212G>C	5.37:g.140530050G>C	ENSP00000231136:p.Arg71Thr		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	9.348	1.064855	0.20067	.	.	ENSG00000113211	ENST00000231136	T	0.26518	1.73	4.97	-0.904	0.10530	Cadherin, N-terminal (1);Cadherin (2);	.	.	.	.	T	0.19366	0.0465	N	0.21617	0.685	0.09310	N	1	B	0.29955	0.263	B	0.39465	0.3	T	0.41484	-0.9506	9	0.87932	D	0	.	5.9842	0.19423	0.5148:0.1352:0.3501:0.0	.	71	Q9Y5E3	PCDB6_HUMAN	T	71	ENSP00000231136:R71T	ENSP00000231136:R71T	R	+	2	0	PCDHB6	140510234	0.000000	0.05858	0.305000	0.25099	0.674000	0.39518	-0.179000	0.09768	-0.039000	0.13602	0.561000	0.74099	AGA		0.537	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		C	140530050	G	C	140530050	3	2	207	1	0	0	0	0	1	0	0	0	11548	942	33	4	214	4	PCDHB6	5	140530050	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	12865608	140530050	40385210	19	12571											
DPYSL3	1809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	146798117	146798117	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr5:146798117C>A	ENST00000398514.3	-	3	577	c.206G>T	c.(205-207)gGc>gTc	p.G69V	DPYSL3_ENST00000343218.5_Missense_Mutation_p.G183V|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	69					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.G69V(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATCGATGCCTCCAGGGAT	0.473																																																1	Substitution - Missense(1)	kidney(1)											213	211	212					5																	146798117		2059	4224	6283	SO:0001583	missense	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.206G>T	5.37:g.146798117C>A	ENSP00000381526:p.Gly69Val		B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344838	0.95807	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000512722	D;D;D	0.90444	-2.67;-2.67;-2.18	6.17	6.17	0.99709	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96682	0.9504	10	0.87932	D	0	-10.6645	20.8794	0.99867	0.0:1.0:0.0:0.0	.	183;69	B3SXQ8;Q14195	.;DPYL3_HUMAN	V	69;183;69	ENSP00000381526:G69V;ENSP00000343690:G183V;ENSP00000426720:G69V	ENSP00000343690:G183V	G	-	2	0	DPYSL3	146778310	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GGC		0.473	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		A	146798117	C	A	146798117	3	1	207	1	0	0	0	0	1	0	0	0	4750	739	26	4	1554	4	DPYSL3	5	146798117	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10	6268067	146798117	34117143	20	12572											
PTK7	5754	broad.mit.edu	37	6	43107148	43107148	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr6:43107148G>C	ENST00000230419.4	+	10	1724	c.1503G>C	c.(1501-1503)aaG>aaC	p.K501N	PTK7_ENST00000345201.2_Intron|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Missense_Mutation_p.K501N|PTK7_ENST00000481273.1_Missense_Mutation_p.K509N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	501					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K501N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AAACAGAAAAGCTCAAGTTCA	0.597																																																1	Substitution - Missense(1)	kidney(1)											58	60	59					6																	43107148		2203	4300	6503	SO:0001583	missense	5754			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1503G>C	6.37:g.43107148G>C	ENSP00000230419:p.Lys501Asn		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199241	0.38806	.	.	ENSG00000112655	ENST00000230419;ENST00000352931;ENST00000481273	T;T;T	0.40476	1.03;1.03;1.03	5.44	1.58	0.23477	Immunoglobulin-like fold (1);	0.103795	0.64402	D	0.000005	T	0.11153	0.0272	N	0.20401	0.57	0.47308	D	0.999383	B;B;B	0.26975	0.058;0.165;0.014	B;B;B	0.27796	0.055;0.083;0.017	T	0.05517	-1.0880	10	0.42905	T	0.14	.	6.0571	0.19816	0.2888:0.0:0.5829:0.1284	.	509;501;501	E9PFZ5;Q13308-4;Q13308	.;.;PTK7_HUMAN	N	501;501;509	ENSP00000230419:K501N;ENSP00000326029:K501N;ENSP00000418754:K509N	ENSP00000230418:K501N	K	+	3	2	PTK7	43215126	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	1.106000	0.31098	0.430000	0.26230	0.591000	0.81541	AAG		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			C	43107148	G	C	43107148	3	2	207	1	0	0	0	0	1	0	0	0	12771	962	34	4	1541	4	PTK7	6	43107148	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10		43107148	128007919	21	12573											
DFNA5	1687	hgsc.bcm.edu;ucsc.edu	37	7	24756899	24756899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr7:24756899delA	ENST00000342947.3	-	5	1096	c.671delT	c.(670-672)ttafs	p.L224fs	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Frame_Shift_Del_p.L224fs|DFNA5_ENST00000409970.1_Frame_Shift_Del_p.L60fs|DFNA5_ENST00000545231.1_Frame_Shift_Del_p.L60fs|DFNA5_ENST00000419307.1_Frame_Shift_Del_p.L60fs	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	224					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TTTCACGTATAACTCAATGAC	0.577																																					GBM(78;184 1250 20134 20900 23600)											0													155	113	127					7																	24756899		2203	4300	6503	SO:0001589	frameshift_variant	1687			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.671delT	7.37:g.24756899delA	ENSP00000339587:p.Leu224fs		A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Frame_Shift_Del	DEL	ENST00000342947.3	37	CCDS5389.1																																																																																				0.577	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		-	24756899	A	-	24756899	7	5	207	1	0	1	0	1	0	0	0	0	4456	372	13	0	843	0	DFNA5	7	24756899	Frame_Shift_Del	DEL	A	TCGA-B0-5402-01A-01D-1501-10		24756899	134381764	22	12574											
STEAP1	26872	broad.mit.edu	37	7	89791288	89791288	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr7:89791288G>T	ENST00000297205.2	+	4	858	c.658G>T	c.(658-660)Gtg>Ttg	p.V220L	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	220	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)	p.V220L(1)		kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GGAGATTTATGTGTCTCTGGG	0.393																																																1	Substitution - Missense(1)	kidney(1)											193	172	179					7																	89791288		2203	4300	6503	SO:0001583	missense	26872			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"Serine peptidases / Serine peptidases"	11378	protein-coding gene	gene with protein product		604415	"six transmembrane epithelial antigen of the prostate"	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.658G>T	7.37:g.89791288G>T	ENSP00000297205:p.Val220Leu		A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615135	0.28712	.	.	ENSG00000164647	ENST00000297205	D	0.91407	-2.84	5.61	4.73	0.59995	Flavoprotein transmembrane component (1);	0.000000	0.64402	D	0.000015	D	0.90765	0.7101	N	0.21373	0.66	0.43719	D	0.996195	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.87768	0.2603	10	0.14656	T	0.56	-12.8408	15.8522	0.78940	0.0:0.0:0.863:0.137	.	220;220	B4E221;Q9UHE8	.;STEA1_HUMAN	L	220	ENSP00000297205:V220L	ENSP00000297205:V220L	V	+	1	0	STEAP1	89629224	0.990000	0.36364	1.000000	0.80357	0.833000	0.47200	1.399000	0.34566	1.349000	0.45751	-0.181000	0.13052	GTG		0.393	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		T	89791288	G	T	89791288	3	4	207	1	0	0	0	0	1	0	0	0	15282	1377	48	4	668	4	STEAP1	7	89791288	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	65034389	89791288	69347375	23	12575											
GALNTL5	168391	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151684265	151684265	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr7:151684265A>C	ENST00000392800.2	+	5	811	c.557A>C	c.(556-558)gAc>gCc	p.D186A	GALNTL5_ENST00000431418.2_Missense_Mutation_p.D186A	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	186	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.D186A(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GAAAAACTAGACTATCACCTG	0.353																																																1	Substitution - Missense(1)	kidney(1)											42	46	45					7																	151684265		2203	4300	6503	SO:0001583	missense	168391			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.557A>C	7.37:g.151684265A>C	ENSP00000376548:p.Asp186Ala		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	a	14.42	2.530543	0.45073	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58797	0.31;0.31	4.3	3.14	0.36123	Glycosyl transferase, family 2 (1);	0.457119	0.18618	N	0.135975	T	0.66607	0.2806	M	0.73430	2.235	0.09310	N	1	D	0.54601	0.967	P	0.55713	0.782	T	0.57820	-0.7745	10	0.59425	D	0.04	.	8.2881	0.31941	0.9038:0.0:0.0962:0.0	.	186	Q7Z4T8	GLTL5_HUMAN	A	186	ENSP00000392582:D186A;ENSP00000376548:D186A	ENSP00000376548:D186A	D	+	2	0	GALNTL5	151315198	0.362000	0.24980	0.002000	0.10522	0.708000	0.40852	2.736000	0.47385	0.794000	0.33899	0.454000	0.30748	GAC		0.353	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		C	151684265	A	C	151684265	3	2	207	1	0	0	0	0	1	0	0	0	6226	275	10	5	571	5	GALNTL5	7	151684265	Missense_Mutation	SNP	A	TCGA-B0-5402-01A-01D-1501-10	61892977	151684265	7454398	24	12576											
MAK16	84549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	33354168	33354168	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr8:33354168T>C	ENST00000360128.6	+	8	1005	c.548T>C	c.(547-549)aTt>aCt	p.I183T	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	183						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I183T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						AACTTCCCCATTCATGCCTTC	0.408																																																1	Substitution - Missense(1)	kidney(1)											159	134	143					8																	33354168		2203	4300	6503	SO:0001583	missense	84549			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"RNA binding motif (RRM) containing"	13703	protein-coding gene	gene with protein product			"RNA binding motif protein 13"	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.548T>C	8.37:g.33354168T>C	ENSP00000353246:p.Ile183Thr		B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	ENST00000360128.6	37	CCDS6089.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057392	0.36277	.	.	ENSG00000198042	ENST00000360128	T	0.40225	1.04	5.8	5.8	0.92144	.	0.048895	0.85682	D	0.000000	T	0.32912	0.0845	L	0.29908	0.895	0.58432	D	0.999991	B	0.21452	0.056	B	0.22152	0.038	T	0.10200	-1.0640	10	0.18710	T	0.47	-8.3933	15.8221	0.78662	0.0:0.0:0.0:1.0	.	183	Q9BXY0	MAK16_HUMAN	T	183	ENSP00000353246:I183T	ENSP00000353246:I183T	I	+	2	0	MAK16	33473710	1.000000	0.71417	0.981000	0.43875	0.958000	0.62258	5.924000	0.70054	2.227000	0.72691	0.460000	0.39030	ATT		0.408	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509		C	33354168	T	C	33354168	3	2	207	1	0	0	0	0	1	0	0	0	9200	1493	52	3	578	3	MAK16	8	33354168	Missense_Mutation	SNP	T	TCGA-B0-5402-01A-01D-1501-10		33354168	113009854	25	12577											
COL22A1	169044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	139845296	139845296	+	Silent	SNP	C	C	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr8:139845296C>T	ENST00000303045.6	-	5	1277	c.831G>A	c.(829-831)gtG>gtA	p.V277V	COL22A1_ENST00000435777.1_Silent_p.V277V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	277	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V277V(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TACTTTGCACCACAGGGAAGG	0.512										HNSCC(7;0.00092)																																						1	Substitution - coding silent(1)	kidney(1)											135	107	117					8																	139845296		2203	4300	6503	SO:0001819	synonymous_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.831G>A	8.37:g.139845296C>T			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.512	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139845296	C	T	139845296	2	4	207	1	0	0	0	0	0	0	0	1	3683	581	21	2		2	COL22A1	8	139845296	Silent	SNP	C	TCGA-B0-5402-01A-01D-1501-10	106491128	139845296	6518726	26	12578											
GALT	2592	broad.mit.edu;ucsc.edu	37	9	34648884	34648884	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr9:34648884G>T	ENST00000378842.3	+	8	855	c.813G>T	c.(811-813)gaG>gaT	p.E271D	GALT_ENST00000556278.1_Intron|IL11RA_ENST00000555003.1_5'Flank|GALT_ENST00000450095.2_Missense_Mutation_p.E162D	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	271					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)	p.E271D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CCCCTGCTGAGCGTGATGGTC	0.617									Galactosemia																																							1	Substitution - Missense(1)	kidney(1)											67	68	68					9																	34648884		2203	4300	6503	SO:0001583	missense	2592	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.813G>T	9.37:g.34648884G>T	ENSP00000368119:p.Glu271Asp		B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928476	0.52759	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99394	-5.82;-5.82	5.78	1.9	0.25705	Histidine triad motif (1);Galactose-1-phosphate uridyl transferase, C-terminal (1);Histidine triad-like motif (1);	0.143271	0.46442	U	0.000288	D	0.99260	0.9742	M	0.86864	2.845	0.52099	D	0.999946	D;B;P	0.89917	1.0;0.267;0.569	D;B;P	0.87578	0.998;0.169;0.518	D	0.99278	1.0895	9	.	.	.	-13.337	8.9079	0.35535	0.2981:0.0:0.7019:0.0	.	223;162;271	B4DT62;E7ET32;P07902	.;.;GALT_HUMAN	D	162;271	ENSP00000401956:E162D;ENSP00000368119:E271D	.	E	+	3	2	GALT	34638884	0.991000	0.36638	1.000000	0.80357	0.551000	0.35334	0.614000	0.24314	0.811000	0.34303	-0.150000	0.13652	GAG		0.617	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		T	34648884	G	T	34648884	3	4	207	1	0	0	0	0	1	0	0	0	6232	962	34	4	843	4	GALT	9	34648884	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10		34648884	106564547	27	12579											
COL15A1	1306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	101818627	101818627	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr9:101818627G>T	ENST00000375001.3	+	35	3701	c.3278G>T	c.(3277-3279)gGt>gTt	p.G1093V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1093	Triple-helical region 8 (COL8).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.G1093V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGAAGACCTGGTGATCCTGGG	0.637																																																1	Substitution - Missense(1)	kidney(1)											48	51	50					9																	101818627		2203	4300	6503	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3278G>T	9.37:g.101818627G>T	ENSP00000364140:p.Gly1093Val		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678035	0.68042	.	.	ENSG00000204291	ENST00000375001	D	0.98221	-4.8	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98863	1.0763	10	0.87932	D	0	-13.0975	17.5802	0.87965	0.0:0.0:1.0:0.0	.	1093	P39059	COFA1_HUMAN	V	1093	ENSP00000364140:G1093V	ENSP00000364140:G1093V	G	+	2	0	COL15A1	100858448	1.000000	0.71417	0.980000	0.43619	0.982000	0.71751	8.010000	0.88615	2.894000	0.99253	0.655000	0.94253	GGT		0.637	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		T	101818627	G	T	101818627	3	4	207	1	0	0	0	0	1	0	0	0	3674	1261	44	4	3416	4	COL15A1	9	101818627	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	67169743	101818627	39394804	28	12580											
OR5M8	219484	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56258051	56258051	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr11:56258051A>C	ENST00000327216.2	-	1	820	c.796T>G	c.(796-798)Tct>Gct	p.S266A		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S266A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGTTCAACAGATTCCTTTGAG	0.383																																																1	Substitution - Missense(1)	kidney(1)											43	48	46					11																	56258051		2201	4295	6496	SO:0001583	missense	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.796T>G	11.37:g.56258051A>C	ENSP00000323354:p.Ser266Ala		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	A	4.733	0.136340	0.09032	.	.	ENSG00000181371	ENST00000327216	T	0.00235	8.48	3.73	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	U	0.001820	T	0.00210	0.0006	M	0.62016	1.91	0.09310	N	1	B	0.23735	0.09	B	0.31245	0.126	T	0.31943	-0.9925	10	0.66056	D	0.02	-28.1087	5.8978	0.18949	0.8808:0.0:0.1192:0.0	.	266	Q8NGP6	OR5M8_HUMAN	A	266	ENSP00000323354:S266A	ENSP00000323354:S266A	S	-	1	0	OR5M8	56014627	0.002000	0.14202	0.790000	0.31976	0.114000	0.19823	1.188000	0.32102	1.710000	0.51325	0.462000	0.41574	TCT		0.383	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		C	56258051	A	C	56258051	3	2	207	1	0	0	0	0	1	0	0	0	11178	333	12	5	143	5	OR5M8	11	56258051	Missense_Mutation	SNP	A	TCGA-B0-5402-01A-01D-1501-10		56258051	78748465	29	12581											
CCDC81	60494	broad.mit.edu;ucsc.edu	37	11	86097128	86097128	+	Missense_Mutation	SNP	G	G	A	rs576072834		TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr11:86097128G>A	ENST00000445632.2	+	2	387	c.115G>A	c.(115-117)Gtg>Atg	p.V39M	CCDC81_ENST00000354755.1_Missense_Mutation_p.V39M|CCDC81_ENST00000278487.3_5'UTR	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	39								p.V39M(2)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ATCAGAATTTGTGAGACGGCA	0.294																																																2	Substitution - Missense(2)	kidney(2)											57	54	55					11																	86097128		2202	4297	6499	SO:0001583	missense	60494			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.115G>A	11.37:g.86097128G>A	ENSP00000415528:p.Val39Met		A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992807	0.35131	.	.	ENSG00000149201	ENST00000354755;ENST00000531271;ENST00000445632	T;T	0.60040	0.22;0.51	5.08	4.17	0.49024	.	0.179933	0.33938	N	0.004409	T	0.68531	0.3011	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.67440	-0.5670	9	.	.	.	-10.2503	8.9384	0.35713	0.1728:0.0:0.8272:0.0	.	39;39	Q6ZN84;Q6ZN84-2	CCD81_HUMAN;.	M	39	ENSP00000346800:V39M;ENSP00000415528:V39M	.	V	+	1	0	CCDC81	85774776	1.000000	0.71417	0.998000	0.56505	0.177000	0.22998	3.779000	0.55379	1.260000	0.44134	0.655000	0.94253	GTG		0.294	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		A	86097128	G	A	86097128	3	1	207	1	0	0	0	0	1	0	0	0	2857	1377	48	2	121	2	CCDC81	11	86097128	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	29839077	86097128	48909388	30	12582											
CEP164	22897	broad.mit.edu	37	11	117280564	117280564	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr11:117280564G>A	ENST00000278935.3	+	30	4126	c.3979G>A	c.(3979-3981)Gct>Act	p.A1327T	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1327					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.A1327T(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTTATCATCTGCTACACCCAC	0.642																																																1	Substitution - Missense(1)	kidney(1)											104	100	101					11																	117280564		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3979G>A	11.37:g.117280564G>A	ENSP00000278935:p.Ala1327Thr		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534418	0.27475	.	.	ENSG00000110274	ENST00000278935	T	0.24350	1.86	4.58	1.99	0.26369	.	1.877400	0.02834	N	0.127179	T	0.26593	0.0650	L	0.60455	1.87	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.14023	0.01;0.01	T	0.19257	-1.0311	10	0.41790	T	0.15	3.1945	3.4786	0.07594	0.2946:0.2041:0.5012:0.0	.	1327;1322	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	T	1327	ENSP00000278935:A1327T	ENSP00000278935:A1327T	A	+	1	0	CEP164	116785774	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.914000	0.28624	0.581000	0.29539	0.561000	0.74099	GCT		0.642	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		A	117280564	G	A	117280564	3	1	207	1	0	0	0	0	1	0	0	0	3251	1319	46	2	4089	2	CEP164	11	117280564	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	31183436	117280564	17725952	31	12583											
OR10G7	390265	broad.mit.edu;hgsc.bcm.edu	37	11	123909221	123909221	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr11:123909221A>T	ENST00000330487.5	-	1	496	c.488T>A	c.(487-489)tTc>tAc	p.F163Y		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F163Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGGCAAATGGAAAGTCAATAT	0.572																																																1	Substitution - Missense(1)	kidney(1)											162	154	157					11																	123909221		2200	4296	6496	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.488T>A	11.37:g.123909221A>T	ENSP00000329689:p.Phe163Tyr		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	A	9.385	1.074034	0.20147	.	.	ENSG00000182634	ENST00000330487	T	0.00258	8.41	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000154	T	0.00468	0.0015	M	0.82132	2.575	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.39014	-0.9634	10	0.87932	D	0	.	5.6685	0.17709	0.7786:0.0:0.2214:0.0	.	163	Q8NGN6	O10G7_HUMAN	Y	163	ENSP00000329689:F163Y	ENSP00000329689:F163Y	F	-	2	0	OR10G7	123414431	0.000000	0.05858	0.052000	0.19188	0.112000	0.19704	1.316000	0.33620	1.490000	0.48466	0.374000	0.22700	TTC		0.572	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		T	123909221	A	T	123909221	3	4	207	1	0	0	0	0	1	0	0	0	10904	246	9	5	451	5	OR10G7	11	123909221	Missense_Mutation	SNP	A	TCGA-B0-5402-01A-01D-1501-10	6628657	123909221	11097295	32	12584											
C11orf45	219833	broad.mit.edu;ucsc.edu	37	11	128772493	128772493	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr11:128772493G>T	ENST00000524878.1	-	4	567	c.397C>A	c.(397-399)Ccc>Acc	p.P133T	C11orf45_ENST00000530168.1_5'UTR|KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000310799.3_Missense_Mutation_p.P133T|KCNJ5_ENST00000529694.1_Intron			Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	133						extracellular region (GO:0005576)		p.P133T(1)		endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		GCACTGAGGGGGTAGCCCAGG	0.622																																																1	Substitution - Missense(1)	kidney(1)											65	55	59					11																	128772493		2201	4297	6498	SO:0001583	missense	219833			AK125634	CCDS8478.1	11q24.3	2012-05-30			ENSG00000174370	ENSG00000174370			28584	protein-coding gene	gene with protein product							Standard	NM_001256088		Approved	MGC35558, FLJ43646	uc001qeu.3	Q8TAV5	OTTHUMG00000165796	ENST00000524878.1:c.397C>A	11.37:g.128772493G>T	ENSP00000431922:p.Pro133Thr		B2RAD0	Missense_Mutation	SNP	ENST00000524878.1	37	CCDS8478.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122702	0.20877	.	.	ENSG00000174370	ENST00000310799;ENST00000524878	.	.	.	2.88	-5.75	0.02384	.	.	.	.	.	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20306	-1.0279	8	0.87932	D	0	.	2.8338	0.05508	0.2198:0.152:0.4777:0.1504	.	133	Q8TAV5	CK045_HUMAN	T	133	.	ENSP00000307879:P133T	P	-	1	0	C11orf45	128277703	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.012000	0.03649	-1.678000	0.01454	-0.290000	0.09829	CCC		0.622	C11orf45-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386243.1	NM_145013		T	128772493	G	T	128772493	3	4	207	1	0	0	0	0	1	0	0	0	1644	1232	43	4	44	4	C11orf45	11	128772493	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	4863272	128772493	6234023	33	12585											
USP5	8078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6969582	6969582	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr12:6969582G>A	ENST00000229268.8	+	11	1323	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	USP5_ENST00000389231.5_Missense_Mutation_p.G424D	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	424	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)	p.G424D(2)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ATCGGCAAGGGCCACCCTGAA	0.587																																																2	Substitution - Missense(2)	kidney(2)											83	83	83					12																	6969582		2203	4300	6503	SO:0001583	missense	8078			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1271G>A	12.37:g.6969582G>A	ENSP00000229268:p.Gly424Asp		D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827435	0.90955	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.28895	1.59;1.59	5.13	5.13	0.70059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	L	0.52266	1.64	0.80722	D	1	P;P	0.40534	0.632;0.72	P;P	0.51016	0.656;0.447	T	0.22730	-1.0208	10	0.48119	T	0.1	-7.2535	18.7864	0.91957	0.0:0.0:1.0:0.0	.	424;424	P45974;P45974-2	UBP5_HUMAN;.	D	424	ENSP00000229268:G424D;ENSP00000373883:G424D	ENSP00000229268:G424D	G	+	2	0	USP5	6839843	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.519000	0.98025	2.656000	0.90262	0.655000	0.94253	GGC		0.587	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			A	6969582	G	A	6969582	3	1	207	1	0	0	0	0	1	0	0	0	17086	1203	42	2	1313	2	USP5	12	6969582	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10		6969582	126882313	34	12586											
PDE3A	5139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	20792854	20792854	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr12:20792854T>A	ENST00000359062.3	+	10	2254	c.2214T>A	c.(2212-2214)taT>taA	p.Y738*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	738	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.Y738*(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TTATGAATTATTTTCATGCTT	0.308																																																1	Substitution - Nonsense(1)	kidney(1)											86	86	86					12																	20792854		2202	4299	6501	SO:0001587	stop_gained	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2214T>A	12.37:g.20792854T>A	ENSP00000351957:p.Tyr738*		O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	T	38	7.211576	0.98139	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.03	-1.36	0.09085	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9372	0.64032	0.0:0.7208:0.0:0.2792	.	.	.	.	X	738	.	ENSP00000351957:Y738X	Y	+	3	2	PDE3A	20684121	0.999000	0.42202	0.991000	0.47740	0.986000	0.74619	0.558000	0.23469	-0.396000	0.07703	-0.515000	0.04445	TAT		0.308	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			A	20792854	T	A	20792854	4	1	207	1	0	0	0	0	0	1	0	0	11639	1500	52	5	2252	5	PDE3A	12	20792854	Nonsense_Mutation	SNP	T	TCGA-B0-5402-01A-01D-1501-10	13823272	20792854	113059041	35	12587											
PDE1B	5153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54970410	54970410	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr12:54970410G>A	ENST00000243052.3	+	14	1868	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M	PDE1B_ENST00000550620.1_Missense_Mutation_p.V458M|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.V437M|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	478	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.V478M(2)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CAACCCTGATGTGGTCAGCTT	0.582																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)											79	66	71					12																	54970410		2203	4300	6503	SO:0001583	missense	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1432G>A	12.37:g.54970410G>A	ENSP00000243052:p.Val478Met		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613025	0.46631	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.69561	-0.41;-0.4;-0.4	4.86	2.91	0.33838	.	0.000000	0.38897	N	0.001527	T	0.38852	0.1056	N	0.08118	0	0.80722	D	1	B;B	0.16166	0.016;0.004	B;B	0.13407	0.009;0.004	T	0.32052	-0.9921	10	0.35671	T	0.21	.	4.1359	0.10170	0.1921:0.2062:0.6017:0.0	.	458;478	Q01064-2;Q01064	.;PDE1B_HUMAN	M	478;437;458	ENSP00000243052:V478M;ENSP00000442559:V437M;ENSP00000448519:V458M	ENSP00000243052:V478M	V	+	1	0	PDE1B	53256677	0.989000	0.36119	0.997000	0.53966	0.915000	0.54546	2.222000	0.42926	2.403000	0.81681	0.561000	0.74099	GTG		0.582	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			A	54970410	G	A	54970410	3	1	207	1	0	0	0	0	1	0	0	0	11636	1377	48	2	1539	2	PDE1B	12	54970410	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	34177556	54970410	78881485	36	12588											
TIMELESS	8914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56816773	56816773	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr12:56816773G>C	ENST00000553532.1	-	19	2446	c.2296C>G	c.(2296-2298)Cta>Gta	p.L766V	TIMELESS_ENST00000229201.4_Missense_Mutation_p.L765V|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.L766V(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AAAGTCACTAGCTCCTGTAGG	0.493																																																1	Substitution - Missense(1)	kidney(1)											74	80	78					12																	56816773		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2296C>G	12.37:g.56816773G>C	ENSP00000450607:p.Leu766Val			Missense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630725	0.67015	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.16196	2.36;2.36	5.59	4.7	0.59300	Timeless C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.36303	0.0962	M	0.81112	2.525	0.80722	D	1	D	0.69078	0.997	P	0.61070	0.883	T	0.19289	-1.0310	10	0.62326	D	0.03	-9.3858	7.7945	0.29140	0.2426:0.0:0.7574:0.0	.	766	Q9UNS1	TIM_HUMAN	V	765;766	ENSP00000229201:L765V;ENSP00000450607:L766V	ENSP00000229201:L766V	L	-	1	2	TIMELESS	55103040	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	2.553000	0.45837	1.513000	0.48852	0.655000	0.94253	CTA		0.493	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		C	56816773	G	C	56816773	3	2	207	1	0	0	0	0	1	0	0	0	15909	962	34	4	1374	4	TIMELESS	12	56816773	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	1846363	56816773	77035122	37	12589											
GEFT	115557	hgsc.bcm.edu	37	12	58010627	58010628	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr12:58010627_58010628insC	ENST00000286494.4	+	15	2153_2154	c.1693_1694insC	c.(1693-1695)accfs	p.T565fs	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000477314.1_3'UTR|ARHGEF25_ENST00000333972.7_Frame_Shift_Ins_p.T604fs	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	565						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AACTCCAAAAACCCCTCCCTGC	0.54																																																0																																										SO:0001589	frameshift_variant	115557				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1697dupC	12.37:g.58010631_58010631dupC	ENSP00000286494:p.Thr565fs		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Ins	INS	ENST00000286494.4	37	CCDS8947.1																																																																																				0.54	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		C	58010628	-	C	58010627	7	5	207	1	0	1	1	0	0	0	0	0	6330	43	2	0	1973	0	GEFT	12	58010627	Frame_Shift_Ins	INS	-	TCGA-B0-5402-01A-01D-1501-10	1193854	58010627	75841268	38	12590											
ALDH2	217	hgsc.bcm.edu	37	12	112229167	112229168	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr12:112229167_112229168insC	ENST00000261733.2	+	7	800_801	c.739_740insC	c.(739-741)gccfs	p.A247fs	RP11-162P23.2_ENST00000546840.2_Frame_Shift_Ins_p.P244fs|ALDH2_ENST00000416293.3_Frame_Shift_Ins_p.A200fs	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	247				A -> P (in Ref. 15; AAA62825). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CACGGCTGGGGCCGCCATTGCC	0.599			T	HMGA2	leiomyoma																																		Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0																																										SO:0001589	frameshift_variant	217			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.741dupC	12.37:g.112229169_112229169dupC	ENSP00000261733:p.Ala247fs		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Frame_Shift_Ins	INS	ENST00000261733.2	37	CCDS9155.1																																																																																				0.599	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		C	112229168	-	C	112229167	7	5	207	1	0	1	1	0	0	0	0	0	496	1203	42	0	765	0	ALDH2	12	112229167	Frame_Shift_Ins	INS	-	TCGA-B0-5402-01A-01D-1501-10	54218540	112229167	21622728	39	12591											
GOLGA3	2802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133359043	133359043	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr12:133359043G>A	ENST00000450791.2	-	16	3487	c.3304C>T	c.(3304-3306)Cgc>Tgc	p.R1102C	GOLGA3_ENST00000204726.3_Missense_Mutation_p.R1102C|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1102C			Q08378	GOGA3_HUMAN	golgin A3	1102					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R1102C(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCCTCAAGGCGTTTTATCTTC	0.473																																																1	Substitution - Missense(1)	kidney(1)											135	135	135					12																	133359043		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3304C>T	12.37:g.133359043G>A	ENSP00000410378:p.Arg1102Cys		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497328	0.44455	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.35048	1.33;1.33;1.35	6.07	4.25	0.50352	.	0.298149	0.41712	D	0.000840	T	0.55577	0.1929	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.939;0.927	T	0.58792	-0.7574	10	0.72032	D	0.01	.	13.4141	0.60958	0.1281:0.0:0.8719:0.0	.	1102;1102	Q08378-2;Q08378	.;GOGA3_HUMAN	C	1102	ENSP00000204726:R1102C;ENSP00000410378:R1102C;ENSP00000409303:R1102C	ENSP00000204726:R1102C	R	-	1	0	GOLGA3	131869116	1.000000	0.71417	0.991000	0.47740	0.004000	0.04260	4.717000	0.61923	0.896000	0.36366	-0.150000	0.13652	CGC		0.473	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		A	133359043	G	A	133359043	3	1	207	1	0	0	0	0	1	0	0	0	6556	1145	40	1	1224	1	GOLGA3	12	133359043	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	21129876	133359043	492852	40	12592											
IFT88	8100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	21205163	21205163	+	Missense_Mutation	SNP	G	G	T	rs368723884		TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr13:21205163G>T	ENST00000319980.6	+	18	1662	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000537103.1_Missense_Mutation_p.E417D|IFT88_ENST00000382778.4_Missense_Mutation_p.E445D|IFT88_ENST00000351808.5_Missense_Mutation_p.E436D	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	445					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.E445D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGGCTGTAGAGATCTTAAAAG	0.383																																																1	Substitution - Missense(1)	kidney(1)											96	97	97					13																	21205163		2203	4300	6503	SO:0001583	missense	8100			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1335G>T	13.37:g.21205163G>T	ENSP00000323580:p.Glu445Asp		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404428	0.25378	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.77877	-1.13;0.65;0.65;0.65	5.12	0.375	0.16188	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.134719	0.56097	N	0.000036	T	0.59307	0.2184	L	0.39326	1.205	0.54753	D	0.999983	B;B;B;B	0.16802	0.001;0.019;0.001;0.001	B;B;B;B	0.15870	0.005;0.014;0.005;0.002	T	0.35895	-0.9770	10	0.21014	T	0.42	-5.4017	1.5623	0.02597	0.2798:0.1225:0.432:0.1658	.	417;445;243;445	F5H6C2;E7EW86;Q6MZX0;Q13099	.;.;.;IFT88_HUMAN	D	445;308;436;445;417	ENSP00000372228:E445D;ENSP00000261632:E436D;ENSP00000323580:E445D;ENSP00000437719:E417D	ENSP00000323580:E445D	E	+	3	2	IFT88	20103163	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	0.756000	0.26419	0.178000	0.19917	0.655000	0.94253	GAG		0.383	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		T	21205163	G	T	21205163	3	4	207	1	0	0	0	0	1	0	0	0	7568	933	33	4	1397	4	IFT88	13	21205163	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10		21205163	93964715	41	12593											
LRCH1	23143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	47303069	47303069	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr13:47303069C>T	ENST00000389798.3	+	17	2049	c.1852C>T	c.(1852-1854)Cac>Tac	p.H618Y	LRCH1_ENST00000389797.3_Missense_Mutation_p.H653Y|LRCH1_ENST00000311191.6_Missense_Mutation_p.H618Y	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	618	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.							p.H618Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TCTGGTCAACCACATCCGCCC	0.517																																																2	Substitution - Missense(2)	kidney(2)											137	121	126					13																	47303069		2203	4300	6503	SO:0001583	missense	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1852C>T	13.37:g.47303069C>T	ENSP00000374448:p.His618Tyr		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917397	0.92249	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	D;D;D	0.94537	-3.45;-3.45;-3.45	5.81	5.81	0.92471	Calponin homology domain (5);	0.049641	0.85682	D	0.000000	D	0.97145	0.9067	M	0.79475	2.455	0.80722	D	1	P;D;D	0.76494	0.73;0.999;0.997	P;D;D	0.85130	0.556;0.997;0.926	D	0.96940	0.9687	10	0.52906	T	0.07	0.3534	17.5566	0.87892	0.0:1.0:0.0:0.0	.	618;653;618	Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;LRCH1_HUMAN	Y	618;618;653	ENSP00000308493:H618Y;ENSP00000374448:H618Y;ENSP00000374447:H653Y	ENSP00000308493:H618Y	H	+	1	0	LRCH1	46201070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.452000	0.66638	2.745000	0.94114	0.655000	0.94253	CAC		0.517	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		T	47303069	C	T	47303069	3	4	207	1	0	0	0	0	1	0	0	0	8934	594	21	2	2027	2	LRCH1	13	47303069	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10	26097906	47303069	67866809	42	12594											
RPL3L	6123	broad.mit.edu;ucsc.edu	37	16	1997038	1997038	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr16:1997038C>A	ENST00000268661.7	-	6	844	c.750G>T	c.(748-750)aaG>aaT	p.K250N		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	250					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K250N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCAGGCCACCTTGCGCAGGC	0.667																																																1	Substitution - Missense(1)	kidney(1)											57	59	58					16																	1997038		2199	4300	6499	SO:0001583	missense	6123			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.750G>T	16.37:g.1997038C>A	ENSP00000268661:p.Lys250Asn			Missense_Mutation	SNP	ENST00000268661.7	37	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922519	0.33908	.	.	ENSG00000140986	ENST00000268661	T	0.25579	1.79	4.92	-0.785	0.10950	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	H	0.98199	4.17	0.58432	D	0.999998	D	0.71674	0.998	D	0.77557	0.99	T	0.59627	-0.7419	10	0.87932	D	0	-13.1717	6.1944	0.20542	0.1194:0.4634:0.0:0.4172	.	250	Q92901	RL3L_HUMAN	N	250	ENSP00000268661:K250N	ENSP00000268661:K250N	K	-	3	2	RPL3L	1937039	0.998000	0.40836	0.998000	0.56505	0.022000	0.10575	0.635000	0.24629	-0.044000	0.13491	-0.895000	0.02911	AAG		0.667	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		A	1997038	C	A	1997038	3	1	207	1	0	0	0	0	1	0	0	0	13600	680	24	4	493	4	RPL3L	16	1997038	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10		1997038	88357715	43	12595											
HSF4	3299	broad.mit.edu	37	16	67200251	67200251	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr16:67200251G>T	ENST00000521374.1	+	5	514	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	HSF4_ENST00000584272.1_Missense_Mutation_p.V172L|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000264009.8_Missense_Mutation_p.V172L|HSF4_ENST00000421453.1_Missense_Mutation_p.V172L			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	172	Hydrophobic repeat HR-A/B.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V172L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCGGGAGGTGGTGACACTTCG	0.627																																																1	Substitution - Missense(1)	kidney(1)											28	38	34					16																	67200251		2111	4207	6318	SO:0001583	missense	3299			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.514G>T	16.37:g.67200251G>T	ENSP00000430947:p.Val172Leu		Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.77|11.77	1.738482|1.738482	0.30774|0.30774	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000517750|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729	.|.	.|.	.|.	4.74|4.74	1.68|1.68	0.24146|0.24146	.|.	.|0.366017	.|0.27971	.|N	.|0.017108	T|T	0.62877|0.62877	0.2464|0.2464	L|L	0.42245|0.42245	1.32|1.32	0.39216|0.39216	D|D	0.963414|0.963414	.|B;D	.|0.64830	.|0.009;0.994	.|B;D	.|0.70716	.|0.019;0.97	T|T	0.60682|0.60682	-0.7215|-0.7215	5|9	.|0.37606	.|T	.|0.19	-8.1525|-8.1525	9.2774|9.2774	0.37707|0.37707	0.2461:0.0:0.7539:0.0|0.2461:0.0:0.7539:0.0	.|.	.|172;172	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	V|L	18|172;172;172;172;109	.|.	.|ENSP00000264009:V172L	G|V	+|+	2|1	0|0	HSF4|HSF4	65757752|65757752	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.393000|0.393000	0.30537|0.30537	2.986000|2.986000	0.49370|0.49370	0.600000|0.600000	0.29862|0.29862	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.627	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		T	67200251	G	T	67200251	3	4	207	1	0	0	0	0	1	0	0	0	7400	1261	44	4	532	4	HSF4	16	67200251	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10	65203213	67200251	23154502	44	12596											
KLHL10	317719	broad.mit.edu;hgsc.bcm.edu	37	17	40001990	40001990	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr17:40001990G>T	ENST00000293303.4	+	3	1450	c.1297G>T	c.(1297-1299)Ggg>Tgg	p.G433W	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	433					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)		p.G433W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AACACTTTATGGGAAGGTAAA	0.502																																																1	Substitution - Missense(1)	kidney(1)											44	44	44					17																	40001990		2088	4219	6307	SO:0001583	missense	317719			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1297G>T	17.37:g.40001990G>T	ENSP00000293303:p.Gly433Trp		Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676285	0.47886	.	.	ENSG00000161594	ENST00000293303	D	0.82619	-1.63	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.252433	0.44902	D	0.000412	D	0.94807	0.8323	H	0.97707	4.06	0.48395	D	0.999648	D;D	0.76494	0.998;0.999	D;D	0.79784	0.976;0.993	D	0.95876	0.8895	9	.	.	.	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	427;433	B4DXV2;Q6JEL2	.;KLH10_HUMAN	W	433	ENSP00000293303:G433W	.	G	+	1	0	KLHL10	37255516	0.999000	0.42202	0.944000	0.38274	0.204000	0.24138	3.124000	0.50461	2.885000	0.99019	0.655000	0.94253	GGG		0.502	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		T	40001990	G	T	40001990	3	4	207	1	0	0	0	0	1	0	0	0	8368	1348	47	4	1307	4	KLHL10	17	40001990	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10		40001990	41193220	45	12597											
ARHGAP28	79822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	6859884	6859884	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr18:6859884G>T	ENST00000383472.4	+	5	818	c.714G>T	c.(712-714)agG>agT	p.R238S	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R238S|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R61S|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R186S|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.R79S|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R74S|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R79S|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R79S			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	238					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.R79S(1)|p.R238S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CGGTTCCCAGGAGTGACTCTG	0.438																																																2	Substitution - Missense(2)	kidney(2)											211	199	203					18																	6859884		2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.714G>T	18.37:g.6859884G>T	ENSP00000372964:p.Arg238Ser		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	G	4.004	-0.001868	0.07819	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.07567	3.35;3.3;3.25;3.25;3.25;3.18	4.44	-0.809	0.10864	.	1.064090	0.07122	N	0.844034	T	0.05318	0.0141	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.20988	0.0;0.001;0.002;0.05	B;B;B;B	0.21917	0.001;0.001;0.003;0.037	T	0.45745	-0.9240	10	0.07990	T	0.79	.	4.7305	0.12962	0.3489:0.1618:0.4894:0.0	.	238;70;79;186	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	S	238;186;79;74;79;79;70;61	ENSP00000382963:R238S;ENSP00000262227:R186S;ENSP00000392660:R79S;ENSP00000437262:R74S;ENSP00000313506:R79S;ENSP00000406907:R79S	ENSP00000262227:R186S	R	+	3	2	ARHGAP28	6849884	0.000000	0.05858	0.000000	0.03702	0.778000	0.44026	-0.063000	0.11655	-0.152000	0.11156	0.563000	0.77884	AGG		0.438	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		T	6859884	G	T	6859884	3	4	207	1	0	0	0	0	1	0	0	0	877	1165	41	4	247	4	ARHGAP28	18	6859884	Missense_Mutation	SNP	G	TCGA-B0-5402-01A-01D-1501-10		6859884	71217364	46	12598											
C19orf39	126074	hgsc.bcm.edu;ucsc.edu	37	19	11486464	11486464	+	Missense_Mutation	SNP	C	C	G	rs11542550	byFrequency	TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr19:11486464C>G	ENST00000312423.2	+	2	521	c.462C>G	c.(460-462)caC>caG	p.H154Q	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	154					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										ACGTCCTGCACCTGGCACTGC	0.672																																																0													73	67	69					19																	11486464		2203	4300	6503	SO:0001583	missense	0			AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"zinc finger, SWIM-type containing 7 associated protein 1", "SWS1-associated protein 1"	614536	"chromosome 19 open reading frame 39"	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.462C>G	19.37:g.11486464C>G	ENSP00000310008:p.His154Gln		Q8NAM1	Missense_Mutation	SNP	ENST00000312423.2	37	CCDS12259.1	.	.	.	.	.	.	.	.	.	.	C	0.490	-0.875684	0.02550	.	.	ENSG00000173928	ENST00000312423	T	0.36878	1.23	5.08	0.093	0.14474	.	0.371717	0.23386	N	0.048743	T	0.10981	0.0268	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29150	-1.0021	10	0.24483	T	0.36	-0.5031	7.894	0.29695	0.0:0.2617:0.3056:0.4327	.	154	Q6NVH7	CS039_HUMAN	Q	154	ENSP00000310008:H154Q	ENSP00000310008:H154Q	H	+	3	2	C19orf39	11347464	0.616000	0.27035	0.008000	0.14137	0.545000	0.35147	0.732000	0.26072	-0.136000	0.11475	-1.058000	0.02302	CAC		0.672	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		G	11486464	C	G	11486464	3	3	207	1	0	0	0	0	1	0	0	0	1924	506	18	4	468	4	C19orf39	19	11486464	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10		11486464	47642519	47	12599											
PEPD	5184	broad.mit.edu	37	19	33878351	33878351	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr19:33878351C>T	ENST00000244137.7	-	15	1414	c.1381G>A	c.(1381-1383)Ggc>Agc	p.G461S	PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000436370.3_Missense_Mutation_p.G397S|PEPD_ENST00000397032.4_Missense_Mutation_p.G420S	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	461					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.G461S(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					AGCTCTATGCCGCTGTCAGTC	0.592																																																1	Substitution - Missense(1)	kidney(1)											92	94	93					19																	33878351		2109	4252	6361	SO:0001583	missense	5184			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1381G>A	19.37:g.33878351C>T	ENSP00000244137:p.Gly461Ser		A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	C	35	5.588771	0.96590	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	D;D;D	0.84070	-1.8;-1.8;-1.8	5.83	5.83	0.93111	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	D	0.92870	0.7732	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93517	0.6858	10	0.87932	D	0	-49.2597	19.0962	0.93253	0.0:1.0:0.0:0.0	.	397;420;461;461	E9PCE8;A8MX47;P12955;A8K3Z1	.;.;PEPD_HUMAN;.	S	461;420;397	ENSP00000244137:G461S;ENSP00000380226:G420S;ENSP00000391890:G397S	ENSP00000244137:G461S	G	-	1	0	PEPD	38570191	1.000000	0.71417	0.957000	0.39632	0.863000	0.49368	5.567000	0.67378	2.746000	0.94184	0.561000	0.74099	GGC		0.592	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		T	33878351	C	T	33878351	3	4	207	1	0	0	0	0	1	0	0	0	11730	652	23	1	104	1	PEPD	19	33878351	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10	22391887	33878351	25250632	48	12600											
RYR1	6261	broad.mit.edu	37	19	38976694	38976695	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr19:38976694_38976695insG	ENST00000359596.3	+	34	5399_5400	c.5399_5400insG	c.(5398-5403)cctgccfs	p.A1801fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.A1801fs|RYR1_ENST00000355481.4_Frame_Shift_Ins_p.A1801fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1801	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGCCTCAGCCCTGCCATCCCGC	0.733																																																0																																										SO:0001589	frameshift_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		Exception_encountered	19.37:g.38976694_38976695insG	ENSP00000352608:p.Ala1801fs		Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Ins	INS	ENST00000359596.3	37	CCDS33011.1																																																																																				0.733	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			G	38976695	-	G	38976694	7	5	207	1	0	1	1	0	0	0	0	0	13774	681	24	0	5533	0	RYR1	19	38976694	Frame_Shift_Ins	INS	-	TCGA-B0-5402-01A-01D-1501-10	5098343	38976694	20152289	49	12601											
TGM6	343641	broad.mit.edu;ucsc.edu	37	20	2398051	2398051	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr20:2398051C>T	ENST00000202625.2	+	10	1571	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	TGM6_ENST00000381423.1_Missense_Mutation_p.P504S	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	504					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.P504S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGTGCTAGAGCCTCCCATGCT	0.657																																																1	Substitution - Missense(1)	kidney(1)											44	39	41					20																	2398051		2203	4300	6503	SO:0001583	missense	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1510C>T	20.37:g.2398051C>T	ENSP00000202625:p.Pro504Ser		Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980565	0.34942	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.66638	-0.22;-0.22	4.67	4.67	0.58626	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.128746	0.53938	D	0.000050	T	0.69797	0.3151	L	0.50919	1.6	0.40461	D	0.980245	D;D	0.67145	0.996;0.985	P;P	0.58820	0.846;0.749	T	0.64896	-0.6299	10	0.10902	T	0.67	-30.4276	12.9459	0.58371	0.0:1.0:0.0:0.0	.	504;504	O95932-2;O95932	.;TGM3L_HUMAN	S	504	ENSP00000202625:P504S;ENSP00000370831:P504S	ENSP00000202625:P504S	P	+	1	0	TGM6	2346051	0.986000	0.35501	0.997000	0.53966	0.660000	0.38997	0.870000	0.28010	2.437000	0.82529	0.655000	0.94253	CCT		0.657	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		T	2398051	C	T	2398051	3	4	207	1	0	0	0	0	1	0	0	0	15839	739	26	2	1548	2	TGM6	20	2398051	Missense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10		2398051	60627469	50	12602											
C20orf118	140711	broad.mit.edu;ucsc.edu	37	20	35507457	35507457	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr20:35507457T>G	ENST00000217320.3	+	3	247	c.203T>G	c.(202-204)tTc>tGc	p.F68C	TLDC2_ENST00000602922.1_Missense_Mutation_p.F68C	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	68								p.F68C(1)									AGCTTTCACTTCCCACCAAGA	0.617																																																1	Substitution - Missense(1)	kidney(1)											124	97	106					20																	35507457		2203	4300	6503	SO:0001583	missense	140711			AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"hypothetical protein LOC140711", "TLD domain containing 2"		"chromosome 20 open reading frame 118"	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.203T>G	20.37:g.35507457T>G	ENSP00000217320:p.Phe68Cys		B3KVU8	Missense_Mutation	SNP	ENST00000217320.3	37	CCDS33465.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460572	0.43736	.	.	ENSG00000101342	ENST00000217320	T	0.30448	1.53	5.09	5.09	0.68999	TLDc (1);	0.126462	0.53938	D	0.000041	T	0.20941	0.0504	N	0.14661	0.345	0.30273	N	0.792068	P	0.44344	0.833	B	0.42087	0.375	T	0.11542	-1.0583	10	0.87932	D	0	-5.5437	11.187	0.48662	0.0:0.0:0.0:1.0	.	68	A0PJX2	CT118_HUMAN	C	68	ENSP00000217320:F68C	ENSP00000217320:F68C	F	+	2	0	C20orf118	34940871	1.000000	0.71417	0.999000	0.59377	0.430000	0.31655	5.934000	0.70138	2.150000	0.67090	0.533000	0.62120	TTC		0.617	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		G	35507457	T	G	35507457	3	3	207	1	0	0	0	0	1	0	0	0	2086	1783	62	5	213	5	C20orf118	20	35507457	Missense_Mutation	SNP	T	TCGA-B0-5402-01A-01D-1501-10	33109406	35507457	27518063	51	12603											
NDUFV3	4731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	44323941	44323941	+	Intron	SNP	A	A	G			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chr21:44323941A>G	ENST00000340344.4	+	3	235				NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Silent_p.R273R	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						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)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)	p.R273R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		AAACATTTAGATTAAATGAAA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											82	99	93					21																	44323941		2203	4300	6503	SO:0001627	intron_variant	4731				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5033A>G	21.37:g.44323941A>G			A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Silent	SNP	ENST00000340344.4	37	CCDS33573.1																																																																																				0.398	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			G	44323941	A	G	44323941	1	3	207	0	1	0	0	0	0	0	0	0	10303	330	12	3		3	NDUFV3	21	44323941	Intron	SNP	A	TCGA-B0-5402-01A-01D-1501-10		44323941	3805954	52	12604											
ATP1B4	23439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	119500536	119500536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5402-01A-01D-1501-10	TCGA-B0-5402-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca62bea0-a008-481e-8a91-d0f3a9598255	6e644c17-dc2b-4e7d-a73d-4d4d14695390	g.chrX:119500536C>T	ENST00000218008.3	+	2	277	c.220C>T	c.(220-222)Caa>Taa	p.Q74*	ATP1B4_ENST00000361319.3_Nonsense_Mutation_p.Q74*|ATP1B4_ENST00000539306.1_Nonsense_Mutation_p.Q74*	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	74					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.Q74*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						ggaagaggGTCAAGGTCAGCC	0.537																																																1	Substitution - Nonsense(1)	kidney(1)											109	90	96					X																	119500536		2203	4300	6503	SO:0001587	stop_gained	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.220C>T	X.37:g.119500536C>T	ENSP00000218008:p.Gln74*		Q17RR0|Q9UN41	Nonsense_Mutation	SNP	ENST00000218008.3	37	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	C	8.276	0.814527	0.16607	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	.	.	.	4.42	2.62	0.31277	.	1.649970	0.02857	N	0.129774	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-19.8841	5.257	0.15552	0.0:0.6823:0.2032:0.1145	.	.	.	.	X	74	.	ENSP00000218008:Q74X	Q	+	1	0	ATP1B4	119384564	0.794000	0.28838	0.023000	0.16930	0.009000	0.06853	0.882000	0.28186	0.577000	0.29470	-0.222000	0.12452	CAA		0.537	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		T	119500536	C	T	119500536	4	4	207	1	0	0	0	0	0	1	0	0	1135	827	29	2	226	2	ATP1B4	23	119500536	Nonsense_Mutation	SNP	C	TCGA-B0-5402-01A-01D-1501-10		119500536	35770024	53	12605											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11177077	11177077	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr1:11177077A>C	ENST00000361445.4	-	50	7076	c.7000T>G	c.(7000-7002)Tta>Gta	p.L2334V	MTOR_ENST00000376838.1_Missense_Mutation_p.L539V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2334	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L2334V(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCCAGGCCTAAAATATACCCA	0.378																																																1	Substitution - Missense(1)	kidney(1)											150	145	147					1																	11177077		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7000T>G	1.37:g.11177077A>C	ENSP00000354558:p.Leu2334Val		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497136	0.64186	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.82433	-1.61;-1.61	5.69	4.57	0.56435	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	M	0.83012	2.62	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.89615	0.3844	10	0.87932	D	0	-18.532	7.9897	0.30233	0.7743:0.0:0.2257:0.0	.	2334	P42345	MTOR_HUMAN	V	2334;539	ENSP00000354558:L2334V;ENSP00000366034:L539V	ENSP00000354558:L2334V	L	-	1	2	MTOR	11099664	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.824000	0.39072	1.000000	0.39049	0.379000	0.24179	TTA		0.378	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		C	11177077	A	C	11177077	3	2	208	1	0	0	0	0	1	0	0	0	9956	11	1	5	685	5	MTOR	1	11177077	Missense_Mutation	SNP	A	TCGA-B0-5691-01A-11D-1534-10		11177077	238073544	1	12606											
NFIA	4774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	61743222	61743222	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr1:61743222C>T	ENST00000403491.3	+	3	1074	c.590C>T	c.(589-591)cCa>cTa	p.P197L	NFIA_ENST00000371187.3_Missense_Mutation_p.P197L|NFIA_ENST00000371191.1_Missense_Mutation_p.P220L|NFIA_ENST00000485903.2_Missense_Mutation_p.P197L|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000371185.2_Intron|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371189.4_Missense_Mutation_p.P242L|NFIA_ENST00000407417.3_Missense_Mutation_p.P189L	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	197					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P197L(1)|p.P242L(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CCCAGCCAGCCAAGTGACGCT	0.473																																																2	Substitution - Missense(2)	kidney(2)											87	83	84					1																	61743222		2203	4300	6503	SO:0001583	missense	4774			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.590C>T	1.37:g.61743222C>T	ENSP00000384523:p.Pro197Leu		B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049202	0.55110	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371187	T;T;T;T;T;T	0.42900	0.97;0.98;0.96;0.97;0.98;0.97	6.02	6.02	0.97574	.	0.103329	0.64402	D	0.000002	T	0.49304	0.1549	N	0.14661	0.345	0.80722	D	1	B;P;P;P	0.51449	0.137;0.909;0.909;0.945	B;P;D;P	0.64595	0.133;0.713;0.927;0.851	T	0.44667	-0.9313	10	0.35671	T	0.21	-16.1695	20.5373	0.99239	0.0:1.0:0.0:0.0	.	242;220;197;197	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	L	220;189;242;197;197;197	ENSP00000360233:P220L;ENSP00000384680:P189L;ENSP00000360231:P242L;ENSP00000384523:P197L;ENSP00000419785:P197L;ENSP00000360229:P197L	ENSP00000360229:P197L	P	+	2	0	NFIA	61515810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.212000	0.72188	2.857000	0.98124	0.650000	0.86243	CCA		0.473	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		T	61743222	C	T	61743222	3	4	208	1	0	0	0	0	1	0	0	0	10372	594	21	2	746	2	NFIA	1	61743222	Missense_Mutation	SNP	C	TCGA-B0-5691-01A-11D-1534-10	50566145	61743222	187507399	2	12607											
WDR78	79819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	67358977	67358977	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr1:67358977T>G	ENST00000371026.3	-	3	520	c.465A>C	c.(463-465)gaA>gaC	p.E155D	WDR78_ENST00000371023.3_Missense_Mutation_p.E155D|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Missense_Mutation_p.E155D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	155					hematopoietic progenitor cell differentiation (GO:0002244)			p.E155D(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AAGATATAAATTCTGATCCAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											174	175	175					1																	67358977		2203	4300	6503	SO:0001583	missense	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.465A>C	1.37:g.67358977T>G	ENSP00000360065:p.Glu155Asp		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.881373	0.00532	.	.	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	T;T;T	0.55413	0.52;2.31;1.57	5.29	-10.6	0.00265	.	0.887861	0.10069	N	0.719964	T	0.02571	0.0078	N	0.00197	-1.87	0.26653	N	0.972064	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.11329	0.006;0.0;0.0	T	0.37126	-0.9719	10	0.02654	T	1	-4.8838	11.2791	0.49184	0.2668:0.0:0.5962:0.1369	.	155;155;155	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	D	155	ENSP00000360065:E155D;ENSP00000360062:E155D;ENSP00000360061:E155D	ENSP00000360061:E155D	E	-	3	2	WDR78	67131565	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-3.937000	0.00330	-2.116000	0.00830	-1.537000	0.00914	GAA		0.363	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		G	67358977	T	G	67358977	3	3	208	1	0	0	0	0	1	0	0	0	17333	1490	52	5	2198	5	WDR78	1	67358977	Missense_Mutation	SNP	T	TCGA-B0-5691-01A-11D-1534-10	5615755	67358977	181891644	3	12608											
RBM8A	9939	broad.mit.edu;hgsc.bcm.edu	37	1	145509177	145509177	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr1:145509177G>T	ENST00000330165.8	+	6	560	c.491G>T	c.(490-492)aGa>aTa	p.R164I	RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.R163I|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	164					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R164I(1)		kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTGGCCGAAGACGCAGCAGA	0.498																																																1	Substitution - Missense(1)	kidney(1)											78	76	77					1																	145509177		2203	4300	6503	SO:0001583	missense	9939			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"RNA binding motif (RRM) containing"	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.491G>T	1.37:g.145509177G>T	ENSP00000333001:p.Arg164Ile		B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	37	CCDS916.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793381	0.70452	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.75704	-0.96;-0.96	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.78314	0.991;0.979	T	0.75453	-0.3312	10	0.44086	T	0.13	-8.353	14.5313	0.67929	0.0:0.0:1.0:0.0	.	163;164	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	I	164;163	ENSP00000333001:R164I;ENSP00000358313:R163I	ENSP00000333001:R164I	R	+	2	0	RBM8A	144220534	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.658000	0.74407	2.279000	0.76181	0.561000	0.74099	AGA		0.498	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105		T	145509177	G	T	145509177	3	4	208	1	0	0	0	0	1	0	0	0	13152	942	33	4	513	4	RBM8A	1	145509177	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	78150200	145509177	103741444	4	12609											
HIST2H2AB	317772	hgsc.bcm.edu;ucsc.edu	37	1	149859184	149859185	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr1:149859184_149859185insCA	ENST00000331128.3	-	1	281_282	c.282_283insTG	c.(280-285)ctcaacfs	p.N95fs	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	95						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGTAACTTGTTGAGCTCTTCGT	0.579																																																0																																										SO:0001589	frameshift_variant	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"Histones / Replication-dependent"	20508	protein-coding gene	gene with protein product		615014	"histone 2, H2ab"			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.282_283insTG	1.37:g.149859184_149859185insCA	ENSP00000332790:p.Asn95fs			Frame_Shift_Del	INS	ENST00000331128.3	37	CCDS938.1																																																																																				0.579	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		CA	149859185	-	CA	149859184	7	5	208	1	0	1	1	0	0	0	0	0	7179	1812	63	0	113	0	HIST2H2AB	1	149859184	Frame_Shift_Ins	INS	-	TCGA-B0-5691-01A-11D-1534-10	4350007	149859184	99391437	5	12610											
FCRL5	83416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157497598	157497598	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr1:157497598G>A	ENST00000361835.3	-	9	1926	c.1769C>T	c.(1768-1770)cCg>cTg	p.P590L	FCRL5_ENST00000368191.3_Missense_Mutation_p.P505L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P590L|FCRL5_ENST00000356953.4_Missense_Mutation_p.P590L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	590	Ig-like C2-type 6.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.P590L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGCCTCTCGGGGCCTCACA	0.592																																																1	Substitution - Missense(1)	kidney(1)											50	54	52					1																	157497598		2203	4300	6503	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1769C>T	1.37:g.157497598G>A	ENSP00000354691:p.Pro590Leu		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	0.534	-0.856532	0.02630	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03301	3.98;3.98;3.98;3.98	3.53	-7.06	0.01568	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.291230	0.02368	N	0.077557	T	0.00356	0.0011	N	0.01742	-0.745	0.09310	N	1	B;B;B;B	0.14438	0.001;0.0;0.01;0.01	B;B;B;B	0.12837	0.003;0.002;0.008;0.003	T	0.47302	-0.9128	10	0.20046	T	0.44	.	0.9691	0.01412	0.2751:0.1071:0.3055:0.3123	.	505;590;590;590	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	L	590;590;590;505	ENSP00000354691:P590L;ENSP00000349434:P590L;ENSP00000357173:P590L;ENSP00000357174:P505L	ENSP00000349434:P590L	P	-	2	0	FCRL5	155764222	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.865000	0.04250	-1.601000	0.01601	-1.153000	0.01818	CCG		0.592	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		A	157497598	G	A	157497598	3	1	208	1	0	0	0	0	1	0	0	0	5800	1116	39	1	1200	1	FCRL5	1	157497598	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	7638414	157497598	91753023	6	12611											
RBM34	23029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235295228	235295228	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr1:235295228T>G	ENST00000408888.3	-	11	1323	c.1093A>C	c.(1093-1095)Aaa>Caa	p.K365Q	TOMM20_ENST00000366607.4_5'Flank|RBM34_ENST00000495224.1_5'UTR|RBM34_ENST00000366606.3_Missense_Mutation_p.K360Q			P42696	RBM34_HUMAN	RNA binding motif protein 34	365						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K365Q(1)		central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			AATTTTTCTTTATTAACAGAA	0.338																																																1	Substitution - Missense(1)	kidney(1)											83	76	78					1																	235295228		1812	4070	5882	SO:0001583	missense	23029				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"RNA binding motif (RRM) containing"	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1093A>C	1.37:g.235295228T>G	ENSP00000386226:p.Lys365Gln		A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294604	0.40594	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.76186	-1.0;-1.0;-1.0	5.64	4.47	0.54385	Nucleotide-binding, alpha-beta plait (1);	0.306169	0.38959	N	0.001505	T	0.69504	0.3118	M	0.77820	2.39	0.50467	D	0.999871	P	0.37061	0.58	B	0.34489	0.184	T	0.70132	-0.4956	10	0.38643	T	0.18	-23.5119	6.9825	0.24711	0.0:0.0758:0.15:0.7743	.	365	P42696	RBM34_HUMAN	Q	365;360;343	ENSP00000386226:K365Q;ENSP00000355565:K360Q;ENSP00000400000:K343Q	ENSP00000355565:K360Q	K	-	1	0	RBM34	233361851	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	2.819000	0.48049	2.149000	0.67028	0.460000	0.39030	AAA		0.338	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		G	235295228	T	G	235295228	3	3	208	1	0	0	0	0	1	0	0	0	13137	1763	61	5	203	5	RBM34	1	235295228	Missense_Mutation	SNP	T	TCGA-B0-5691-01A-11D-1534-10	77797630	235295228	13955393	7	12612											
ROCK2	9475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	2	11348011	11348012	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr2:11348011_11348012TC>AT	ENST00000315872.6	-	20	2837_2838	c.2389_2390GA>AT	c.(2389-2391)GAg>ATg	p.E797M	ROCK2_ENST00000401753.1_Missense_Mutation_p.E554M	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	797					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.E797K(2)|p.E797V(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGTTTCTTGCTCTATTTTTAAT	0.307																																																4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2389_2390delinsAT	2.37:g.11348011_11348012delinsAT	ENSP00000317985:p.Glu797Met		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	CCDS42654.1																																																																																				0.307	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			AT	11348012	TC	AT	11348011	3	1	208	1	0	0	0	0	1	0	0	0	13524	1551	54	5	1832	5	ROCK2	2	11348011	Missense_Mutation	DNP	TC	TCGA-B0-5691-01A-11D-1534-10		11348011	231851362	8	12613											
LTBP1	4052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	33534615	33534615	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr2:33534615C>G	ENST00000404816.2	+	23	3949	c.3596C>G	c.(3595-3597)aCa>aGa	p.T1199R	LTBP1_ENST00000418533.2_Missense_Mutation_p.T873R|LTBP1_ENST00000272273.5_Missense_Mutation_p.T139R|LTBP1_ENST00000404525.1_Missense_Mutation_p.T820R|LTBP1_ENST00000390003.4_Missense_Mutation_p.T874R|LTBP1_ENST00000354476.3_Missense_Mutation_p.T1200R|LTBP1_ENST00000402934.1_Missense_Mutation_p.T820R|LTBP1_ENST00000407925.1_Missense_Mutation_p.T873R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1199	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.T1200R(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACAATAAAACATGTCAAGGT	0.408																																																1	Substitution - Missense(1)	kidney(1)											179	165	170					2																	33534615		2203	4300	6503	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3596C>G	2.37:g.33534615C>G	ENSP00000386043:p.Thr1199Arg		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.069|0.069	-1.206592|-1.206592	0.01568|0.01568	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000415140|ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	.|D;D;D;D;D;D;D;D;D	.|0.87103	.|-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.93|5.93	-0.821|-0.821	0.10822|0.10822	.|EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|.	.|.	.|.	.|.	T|T	0.77691|0.77691	0.4168|0.4168	L|L	0.41824|0.41824	1.3|1.3	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B;B	.|0.06405	.|0.001;0.002;0.0;0.002;0.001;0.001;0.001	T|T	0.58607|0.58607	-0.7607|-0.7607	5|9	.|0.16420	.|T	.|0.52	.|.	7.4792|7.4792	0.27395|0.27395	0.2781:0.2143:0.5077:0.0|0.2781:0.2143:0.5077:0.0	.|.	.|139;1199;873;820;873;874;1200	.|E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.|.;LTBP1_HUMAN;.;.;.;.;.	D|R	161|1199;1200;874;873;820;820;873;139;77	.|ENSP00000386043:T1199R;ENSP00000346467:T1200R;ENSP00000374653:T874R;ENSP00000393057:T873R;ENSP00000384373:T820R;ENSP00000385359:T820R;ENSP00000384091:T873R;ENSP00000272273:T139R;ENSP00000395211:T77R	.|ENSP00000272273:T139R	H|T	+|+	1|2	0|0	LTBP1|LTBP1	33388119|33388119	0.899000|0.899000	0.30636|0.30636	0.008000|0.008000	0.14137|0.14137	0.016000|0.016000	0.09150|0.09150	0.857000|0.857000	0.27831|0.27831	-0.081000|-0.081000	0.12662|0.12662	-0.165000|-0.165000	0.13383|0.13383	CAT|ACA		0.408	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		G	33534615	C	G	33534615	3	3	208	1	0	0	0	0	1	0	0	0	9075	478	17	4	3741	4	LTBP1	2	33534615	Missense_Mutation	SNP	C	TCGA-B0-5691-01A-11D-1534-10	22186604	33534615	209664758	9	12614											
DNAH6	1768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	84912547	84912547	+	Silent	SNP	T	T	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr2:84912547T>C	ENST00000237449.6	+	42	7022	c.7014T>C	c.(7012-7014)atT>atC	p.I2338I	DNAH6_ENST00000602588.1_Intron|DNAH6_ENST00000389394.3_Silent_p.I2338I|DNAH6_ENST00000398278.2_Intron			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2338					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2338I(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATCGCTTGATTAATAATGAAG	0.338																																																1	Substitution - coding silent(1)	kidney(1)											95	84	88					2																	84912547		692	1589	2281	SO:0001819	synonymous_variant	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7014T>C	2.37:g.84912547T>C			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																				0.338	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		C	84912547	T	C	84912547	2	2	208	1	0	0	0	0	0	0	0	1	4607	1742	61	3		3	DNAH6	2	84912547	Silent	SNP	T	TCGA-B0-5691-01A-11D-1534-10	51377932	84912547	158286826	10	12615											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191499	10191499	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr3:10191499delG	ENST00000256474.2	+	3	1332	c.492delG	c.(490-492)cagfs	p.Q164fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.Q123fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	164	Interaction with Elongin BC complex.		Q -> H (in VHLD).|Q -> R (in VHLD; type II). {ECO:0000269|PubMed:8825918, ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q164H(3)|p.Q164fs*9(2)|p.V165fs*5(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GATGCCTCCAGGTTGTCCGGA	0.507		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	6	Substitution - Missense(3)|Deletion - Frameshift(3)	kidney(4)|adrenal_gland(2)	GRCh37	CM031757|CM074631	VHL	M							92	83	86					3																	10191499		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.492delG	3.37:g.10191499delG	ENSP00000256474:p.Gln164fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191499	G	-	10191499	7	5	208	1	0	1	0	1	0	0	0	0	17167	991	35	0	502	0	VHL	3	10191499	Frame_Shift_Del	DEL	G	TCGA-B0-5691-01A-11D-1534-10		10191499	187830931	11	12616											
BOC	91653	broad.mit.edu;ucsc.edu	37	3	112969550	112969550	+	Silent	SNP	G	G	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr3:112969550G>T	ENST00000495514.1	+	4	950	c.246G>T	c.(244-246)ctG>ctT	p.L82L	BOC_ENST00000273395.4_Silent_p.L82L|BOC_ENST00000355385.3_Silent_p.L82L|BOC_ENST00000484034.1_Silent_p.L82L|BOC_ENST00000485230.1_Silent_p.L82L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	82	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.L82L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ATGATGCTCTGGGTGTCCTCA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											134	129	131					3																	112969550		2203	4300	6503	SO:0001819	synonymous_variant	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.246G>T	3.37:g.112969550G>T			A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	CCDS2971.1																																																																																				0.602	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		T	112969550	G	T	112969550	2	4	208	1	0	0	0	0	0	0	0	1	1481	1335	47	4		4	BOC	3	112969550	Silent	SNP	G	TCGA-B0-5691-01A-11D-1534-10	102778051	112969550	85052880	12	12617											
CDV3	55573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	133302937	133302937	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr3:133302937T>C	ENST00000264993.3	+	3	724	c.409T>C	c.(409-411)Tct>Cct	p.S137P	CDV3_ENST00000508481.1_Missense_Mutation_p.S35P|CDV3_ENST00000420115.2_Missense_Mutation_p.S35P|CDV3_ENST00000511392.1_Missense_Mutation_p.S35P|CDV3_ENST00000431519.2_Missense_Mutation_p.S137P|CDV3_ENST00000515421.1_Missense_Mutation_p.S35P	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	137					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.S137P(2)		kidney(3)|lung(1)|prostate(1)	5						TATGGAAAAATCTTCAGGTCC	0.403																																																2	Substitution - Missense(2)	kidney(2)											139	129	132					3																	133302937		2203	4300	6503	SO:0001583	missense	55573			AK096865	CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1	3q22.1	2008-02-05			ENSG00000091527	ENSG00000091527			26928	protein-coding gene	gene with protein product						10497265	Standard	NM_017548		Approved	H41	uc003epq.3	Q9UKY7	OTTHUMG00000159764	ENST00000264993.3:c.409T>C	3.37:g.133302937T>C	ENSP00000264993:p.Ser137Pro		B3KUC2|Q96IP9	Missense_Mutation	SNP	ENST00000264993.3	37	CCDS3079.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912131	0.72983	.	.	ENSG00000091527	ENST00000264993;ENST00000431519;ENST00000508481;ENST00000420115;ENST00000504867;ENST00000507408;ENST00000511392;ENST00000515421	.	.	.	5.7	4.48	0.54585	.	0.239935	0.44483	D	0.000450	T	0.76414	0.3984	M	0.73598	2.24	0.38060	D	0.936043	P;D;D	0.76494	0.718;0.999;0.999	P;D;D	0.71656	0.528;0.974;0.929	T	0.80848	-0.1199	9	0.59425	D	0.04	.	12.5311	0.56115	0.0:0.0:0.1389:0.8611	.	35;137;137	Q9UKY7-3;Q9UKY7;Q9UKY7-2	.;CDV3_HUMAN;.	P	137;137;35;35;35;34;35;35	.	ENSP00000264993:S137P	S	+	1	0	CDV3	134785627	0.999000	0.42202	0.925000	0.36789	0.979000	0.70002	2.389000	0.44407	2.188000	0.69820	0.528000	0.53228	TCT		0.403	CDV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357203.1	NM_017548		C	133302937	T	C	133302937	3	2	208	1	0	0	0	0	1	0	0	0	3183	1435	50	3	419	3	CDV3	3	133302937	Missense_Mutation	SNP	T	TCGA-B0-5691-01A-11D-1534-10	20333387	133302937	64719493	13	12618											
LRRTM2	26045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138209538	138209538	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr5:138209538A>C	ENST00000274711.6	-	2	1090	c.712T>G	c.(712-714)Tgg>Ggg	p.W238G	CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000523537.1_5'Flank|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000521094.2_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	238					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.W238G(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTTTGTTCCATTGTAAGAAG	0.443																																																1	Substitution - Missense(1)	kidney(1)											303	294	297					5																	138209538		1943	4142	6085	SO:0001583	missense	26045			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.712T>G	5.37:g.138209538A>C	ENSP00000274711:p.Trp238Gly		A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	ENST00000274711.6	37	CCDS47272.1	.	.	.	.	.	.	.	.	.	.	A	2.359	-0.347035	0.05208	.	.	ENSG00000146006	ENST00000274711	T	0.03689	3.84	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.04998	0.0134	M	0.62723	1.935	0.58432	D	0.999991	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34625	-0.9821	10	0.25106	T	0.35	.	7.4579	0.27276	0.713:0.1464:0.0:0.1406	.	104;238	B7Z4G4;O43300	.;LRRT2_HUMAN	G	238	ENSP00000274711:W238G	ENSP00000274711:W238G	W	-	1	0	LRRTM2	138237437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.932000	0.56537	2.307000	0.77673	0.528000	0.53228	TGG		0.443	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2			C	138209538	A	C	138209538	3	2	208	1	0	0	0	0	1	0	0	0	9042	217	8	5	842	5	LRRTM2	5	138209538	Missense_Mutation	SNP	A	TCGA-B0-5691-01A-11D-1534-10		138209538	42705722	14	12619											
GALNT10	55568	broad.mit.edu;ucsc.edu	37	5	153709212	153709212	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr5:153709212T>C	ENST00000297107.6	+	4	619	c.482T>C	c.(481-483)cTc>cCc	p.L161P	GALNT10_ENST00000425427.2_Missense_Mutation_p.L161P|GALNT10_ENST00000377661.2_Missense_Mutation_p.L161P|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	161	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L161P(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGGTCCTCCCTCCTCCGCACC	0.582																																																1	Substitution - Missense(1)	kidney(1)											181	131	148					5																	153709212		2203	4300	6503	SO:0001583	missense	55568			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.482T>C	5.37:g.153709212T>C	ENSP00000297107:p.Leu161Pro		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694335	0.88830	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.73681	-0.77;-0.77;-0.77	5.07	5.07	0.68467	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.92795	0.7709	H	0.99859	4.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95938	0.8944	10	0.87932	D	0	.	14.8309	0.70149	0.0:0.0:0.0:1.0	.	161;161;161	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	P	161	ENSP00000415210:L161P;ENSP00000297107:L161P;ENSP00000366889:L161P	ENSP00000297107:L161P	L	+	2	0	GALNT10	153689405	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.726000	0.84824	1.908000	0.55244	0.533000	0.62120	CTC		0.582	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		C	153709212	T	C	153709212	3	2	208	1	0	0	0	0	1	0	0	0	6210	1551	54	3	496	3	GALNT10	5	153709212	Missense_Mutation	SNP	T	TCGA-B0-5691-01A-11D-1534-10	15499674	153709212	27206048	15	12620											
SERPINB1	1992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	2836102	2836102	+	Silent	SNP	C	C	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr6:2836102C>T	ENST00000380739.5	-	6	925	c.723G>A	c.(721-723)acG>acA	p.T241T	SERPINB1_ENST00000537185.1_Silent_p.T90T|SERPINB1_ENST00000476896.1_5'Flank	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	241					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T241T(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TCTTCAGGCCCGTGGACTCGT	0.542																																																1	Substitution - coding silent(1)	kidney(1)											92	77	82					6																	2836102		2203	4300	6503	SO:0001819	synonymous_variant	1992			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"Serine (or cysteine) peptidase inhibitors"	3311	protein-coding gene	gene with protein product		130135	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.723G>A	6.37:g.2836102C>T			A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Silent	SNP	ENST00000380739.5	37	CCDS4477.1																																																																																				0.542	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			T	2836102	C	T	2836102	2	4	208	1	0	0	0	0	0	0	0	1	14102	639	23	1		1	SERPINB1	6	2836102	Silent	SNP	C	TCGA-B0-5691-01A-11D-1534-10		2836102	168278965	16	12621											
OR2J2	26707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	29141782	29141782	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr6:29141782T>C	ENST00000377167.2	+	1	472	c.370T>C	c.(370-372)Tat>Cat	p.Y124H		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y124H(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						ATATGATCGTTATGTAGCTGT	0.448																																																1	Substitution - Missense(1)	kidney(1)											336	313	321					6																	29141782		2086	4198	6284	SO:0001583	missense	26707				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.370T>C	6.37:g.29141782T>C	ENSP00000366372:p.Tyr124His		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.033593	0.35893	.	.	ENSG00000204700	ENST00000377167	T	0.02103	4.45	2.3	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.08626	0.0214	M	0.92923	3.36	0.36927	D	0.891677	D	0.89917	1.0	D	0.91635	0.999	T	0.01472	-1.1346	9	0.87932	D	0	.	9.0762	0.36522	0.0:0.0:0.0:1.0	.	124	O76002	OR2J2_HUMAN	H	124	ENSP00000366372:Y124H	ENSP00000366372:Y124H	Y	+	1	0	OR2J2	29249761	0.761000	0.28439	0.999000	0.59377	0.226000	0.24999	4.130000	0.57964	1.039000	0.40074	0.172000	0.16884	TAT		0.448	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			C	29141782	T	C	29141782	3	2	208	1	0	0	0	0	1	0	0	0	11005	1754	61	3	372	3	OR2J2	6	29141782	Missense_Mutation	SNP	T	TCGA-B0-5691-01A-11D-1534-10	26305680	29141782	141973285	17	12622											
CUL7	9820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43019452	43019452	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr6:43019452C>G	ENST00000265348.3	-	3	715	c.630G>C	c.(628-630)gaG>gaC	p.E210D	CUL7_ENST00000535468.1_Missense_Mutation_p.E294D			Q14999	CUL7_HUMAN	cullin 7	210					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E210D(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGGTGTTTCTCAATGGCTT	0.532																																																1	Substitution - Missense(1)	kidney(1)											162	146	151					6																	43019452		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.630G>C	6.37:g.43019452C>G	ENSP00000265348:p.Glu210Asp		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567924	0.65651	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;D	0.89050	0.88;-2.46	5.53	3.7	0.42460	.	0.000000	0.85682	D	0.000000	D	0.91178	0.7221	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.91605	0.5298	10	0.87932	D	0	-14.5593	8.5116	0.33220	0.0:0.6969:0.0:0.3031	.	294;210	F5H0L1;Q14999	.;CUL7_HUMAN	D	210;294	ENSP00000265348:E210D;ENSP00000438788:E294D	ENSP00000265348:E210D	E	-	3	2	CUL7	43127430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.368000	0.34216	1.295000	0.44724	0.555000	0.69702	GAG		0.532	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		G	43019452	C	G	43019452	3	3	208	1	0	0	0	0	1	0	0	0	4062	912	32	4	4562	4	CUL7	6	43019452	Missense_Mutation	SNP	C	TCGA-B0-5691-01A-11D-1534-10	13877670	43019452	128095615	18	12623											
MLLT4	4301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	168344647	168344647	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr6:168344647G>T	ENST00000447894.2	+	25	3245	c.3245G>T	c.(3244-3246)aGc>aTc	p.S1082I	MLLT4_ENST00000392112.1_Missense_Mutation_p.S1065I|MLLT4_ENST00000392108.3_Missense_Mutation_p.S1082I|MLLT4_ENST00000366806.2_Missense_Mutation_p.S1082I|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1089I|MLLT4_ENST00000400822.3_Missense_Mutation_p.S1081I|MLLT4_ENST00000344191.4_Missense_Mutation_p.S1082I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1082	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.S1082I(1)|p.S1066I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACAAGAACAAGCTCTGTGGTG	0.493			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	2	Substitution - Missense(2)	kidney(2)											122	105	111					6																	168344647		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3245G>T	6.37:g.168344647G>T	ENSP00000404595:p.Ser1082Ile		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	G	25.8	4.679706	0.88542	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.92	4.92	0.64577	PDZ/DHR/GLGF (4);	0.058057	0.64402	D	0.000002	T	0.49167	0.1541	M	0.67569	2.06	0.47183	D	0.999346	P;P;P;P	0.46706	0.708;0.883;0.828;0.654	P;P;B;P	0.53313	0.723;0.533;0.431;0.533	T	0.55860	-0.8074	10	0.87932	D	0	-0.865	18.1404	0.89637	0.0:0.0:1.0:0.0	.	1082;1081;1082;1066	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	I	1082;1089;1082;1082;1065;1082;1081;1082	ENSP00000341118:S1082I;ENSP00000252692:S1089I;ENSP00000375956:S1082I;ENSP00000355771:S1082I;ENSP00000375960:S1065I;ENSP00000383623:S1081I;ENSP00000404595:S1082I	ENSP00000345834:S1082I	S	+	2	0	MLLT4	168087496	1.000000	0.71417	0.919000	0.36401	0.991000	0.79684	7.434000	0.80377	2.257000	0.74773	0.650000	0.86243	AGC		0.493	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		T	168344647	G	T	168344647	3	4	208	1	0	0	0	0	1	0	0	0	9631	971	34	4	3343	4	MLLT4	6	168344647	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	125325195	168344647	2770420	19	12624											
CUX1	1523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	101926034	101926034	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr7:101926034A>T	ENST00000437600.4	+	22	2279	c.1927A>T	c.(1927-1929)Atg>Ttg	p.M643L	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.M629L|CUX1_ENST00000425244.2_Missense_Mutation_p.M599L|CUX1_ENST00000292538.4_Missense_Mutation_p.M645L|SH2B2_ENST00000536178.1_5'Flank|CUX1_ENST00000393824.3_Missense_Mutation_p.M606L	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.M645L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGCGAGAGCATGGAGAGGGA	0.682																																																1	Substitution - Missense(1)	kidney(1)											64	57	59					7																	101926034		2203	4300	6503	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1927A>T	7.37:g.101926034A>T	ENSP00000414091:p.Met643Leu		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.365385	0.24684	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	3.67	-7.24	0.01475	CASP, C-terminal (1);	.	.	.	.	T	0.12220	0.0297	N	0.04508	-0.205	0.22112	N	0.999355	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.0;0.0;0.0	T	0.37776	-0.9691	9	0.21014	T	0.42	.	12.8467	0.57833	0.1937:0.0:0.8063:0.0	.	606;599;629;643;645	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	L	645;629;599;643	ENSP00000292538:M645L;ENSP00000449371:M629L;ENSP00000409745:M599L;ENSP00000414091:M643L	ENSP00000292538:M645L	M	+	1	0	CUX1	101712754	0.007000	0.16637	0.248000	0.24265	0.726000	0.41606	0.128000	0.15810	-1.776000	0.01285	-1.261000	0.01458	ATG		0.682	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		T	101926034	A	T	101926034	3	4	208	1	0	0	0	0	1	0	0	0	4066	217	8	5	5389	5	CUX1	7	101926034	Missense_Mutation	SNP	A	TCGA-B0-5691-01A-11D-1534-10		101926034	57212629	20	12625											
C7orf58	79974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	120782148	120782148	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr7:120782148C>T	ENST00000310396.5	+	16	2475	c.2008C>T	c.(2008-2010)Cca>Tca	p.P670S	CPED1_ENST00000423795.1_Missense_Mutation_p.P450S|CPED1_ENST00000450913.2_Missense_Mutation_p.P670S	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	670						endoplasmic reticulum (GO:0005783)		p.P670S(1)									AGAAGACCGCCCAAGTCTGCC	0.433																																																1	Substitution - Missense(1)	kidney(1)											190	170	177					7																	120782148		2203	4299	6502	SO:0001583	missense	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2008C>T	7.37:g.120782148C>T	ENSP00000309772:p.Pro670Ser		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802481	0.90538	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.25414	2.13;1.8;1.81	5.77	5.77	0.91146	.	0.056277	0.64402	D	0.000001	T	0.53142	0.1778	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.973	T	0.50189	-0.8857	10	0.72032	D	0.01	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	450;670;670	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	S	670;670;450	ENSP00000309772:P670S;ENSP00000406122:P670S;ENSP00000415573:P450S	ENSP00000309772:P670S	P	+	1	0	C7orf58	120569384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.634000	0.67833	2.885000	0.99019	0.655000	0.94253	CCA		0.433	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		T	120782148	C	T	120782148	3	4	208	1	0	0	0	0	1	0	0	0	2407	623	22	2	2066	2	C7orf58	7	120782148	Missense_Mutation	SNP	C	TCGA-B0-5691-01A-11D-1534-10	18856114	120782148	38356515	21	12626											
LRRCC1	85444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	86037088	86037088	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr8:86037088A>C	ENST00000360375.3	+	8	1335	c.1186A>C	c.(1186-1188)Aac>Cac	p.N396H	LRRCC1_ENST00000414626.2_Missense_Mutation_p.N376H	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	396					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N396H(1)|p.N376H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATCTTTAGCAAACTGTCCTAT	0.308																																																2	Substitution - Missense(2)	kidney(2)											89	89	89					8																	86037088		1811	4065	5876	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1186A>C	8.37:g.86037088A>C	ENSP00000353538:p.Asn396His		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065946	0.55539	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.32988	1.48;1.43	4.63	4.63	0.57726	.	0.312303	0.23332	N	0.049332	T	0.46889	0.1416	L	0.50333	1.59	0.09310	N	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.993	D;D;D;P	0.85130	0.997;0.964;0.997;0.659	T	0.26292	-1.0107	10	0.54805	T	0.06	-6.563	10.7403	0.46149	1.0:0.0:0.0:0.0	.	303;376;303;396	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	H	396;376	ENSP00000353538:N396H;ENSP00000394695:N376H	ENSP00000353538:N396H	N	+	1	0	LRRCC1	86224340	0.091000	0.21658	0.006000	0.13384	0.070000	0.16714	2.549000	0.45803	2.311000	0.77944	0.533000	0.62120	AAC		0.308	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		C	86037088	A	C	86037088	3	2	208	1	0	0	0	0	1	0	0	0	9028	14	1	5	1216	5	LRRCC1	8	86037088	Missense_Mutation	SNP	A	TCGA-B0-5691-01A-11D-1534-10		86037088	60326934	22	12627											
C9orf85	138241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	74526670	74526670	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr9:74526670A>T	ENST00000377031.3	+	1	210	c.20A>T	c.(19-21)aAc>aTc	p.N7I	C9orf85_ENST00000486911.2_Missense_Mutation_p.N7I|ABHD17B_ENST00000377041.2_5'Flank|C9orf85_ENST00000334731.2_Missense_Mutation_p.N7I|ABHD17B_ENST00000333421.6_5'Flank			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	7								p.N7I(2)		kidney(2)|large_intestine(1)|lung(4)	7						CAGAAAGGCAACGTGGCTCGT	0.502																																																2	Substitution - Missense(2)	kidney(2)											180	181	180					9																	74526670		2203	4300	6503	SO:0001583	missense	138241			BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.20A>T	9.37:g.74526670A>T	ENSP00000366230:p.Asn7Ile		Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Missense_Mutation	SNP	ENST00000377031.3	37		.	.	.	.	.	.	.	.	.	.	A	34	5.342519	0.95783	.	.	ENSG00000155621	ENST00000334731;ENST00000377031;ENST00000356065	T	0.35789	1.29	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.82323	2.585	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.68198	-0.5472	10	0.87932	D	0	-33.7882	12.9237	0.58247	1.0:0.0:0.0:0.0	.	7	Q96MD7-1	.	I	7	ENSP00000366230:N7I	ENSP00000334289:N7I	N	+	2	0	C9orf85	73716490	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.687000	0.61708	2.295000	0.77249	0.523000	0.50628	AAC		0.502	C9orf85-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052628.2	NM_182505		T	74526670	A	T	74526670	3	4	208	1	0	0	0	0	1	0	0	0	2503	43	2	5	22	5	C9orf85	9	74526670	Missense_Mutation	SNP	A	TCGA-B0-5691-01A-11D-1534-10		74526670	66686761	23	12628											
POMT1	10585	broad.mit.edu;ucsc.edu	37	9	134379711	134379711	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr9:134379711T>C	ENST00000372228.3	+	2	285	c.106T>C	c.(106-108)Tac>Cac	p.Y36H	POMT1_ENST00000423007.1_Missense_Mutation_p.Y36H|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Missense_Mutation_p.Y36H|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000402686.3_Missense_Mutation_p.Y36H|POMT1_ENST00000341012.7_Intron	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	36					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.Y36H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GCGACTCACCTACCCGCGGGC	0.537											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											121	103	109					9																	134379711		2203	4300	6503	SO:0001583	missense	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.106T>C	9.37:g.134379711T>C	ENSP00000361302:p.Tyr36His	1610	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	T	8.975	0.974019	0.18736	.	.	ENSG00000130714	ENST00000423007;ENST00000372228;ENST00000402686;ENST00000354713;ENST00000418774	D;D;D;D;D	0.86030	-2.01;-2.01;-2.01;-2.06;-2.01	5.02	3.88	0.44766	Glycosyl transferase, family 39 (1);	0.213252	0.41500	D	0.000871	D	0.86243	0.5886	L	0.39898	1.24	0.80722	D	1	B;D;D;B	0.89917	0.206;1.0;1.0;0.016	B;D;D;B	0.76575	0.043;0.987;0.988;0.049	T	0.81154	-0.1062	10	0.15499	T	0.54	-27.9908	9.8283	0.40925	0.0:0.0809:0.0:0.9191	.	36;36;36;36	B4DTW4;B4DWD8;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	H	36	ENSP00000404119:Y36H;ENSP00000361302:Y36H;ENSP00000385797:Y36H;ENSP00000346748:Y36H;ENSP00000390737:Y36H	ENSP00000346748:Y36H	Y	+	1	0	POMT1	133369532	1.000000	0.71417	0.947000	0.38551	0.177000	0.22998	5.015000	0.64035	0.762000	0.33152	-0.250000	0.11733	TAC		0.537	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		C	134379711	T	C	134379711	3	2	208	1	0	0	0	0	1	0	0	0	12247	1522	53	3	108	3	POMT1	9	134379711	Missense_Mutation	SNP	T	TCGA-B0-5691-01A-11D-1534-10	59853041	134379711	6833720	24	12629											
SETX	23064	hgsc.bcm.edu;ucsc.edu	37	9	135202188	135202190	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	AAA	AAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr9:135202188_135202190delAAA	ENST00000224140.5	-	10	4977_4979	c.4795_4797delTTT	c.(4795-4797)tttdel	p.F1599del	SETX_ENST00000393220.1_In_Frame_Del_p.F1599del|SETX_ENST00000372169.2_In_Frame_Del_p.F1599del	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1599					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTTTGAGCTAAAAATCTTAGTG	0.404																																																0																																										SO:0001651	inframe_deletion	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4795_4797delTTT	9.37:g.135202188_135202190delAAA	ENSP00000224140:p.Phe1599del		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	In_Frame_Del	DEL	ENST00000224140.5	37	CCDS6947.1																																																																																				0.404	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		-	135202190	AAA	-	135202188	7	5	208	1	0	1	0	1	0	0	0	0	14147	359	13	0	3304	0	SETX	9	135202188	In_Frame_Del	DEL	AAA	TCGA-B0-5691-01A-11D-1534-10	822477	135202188	6011243	25	12630											
ARMC4	55130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	28229610	28229610	+	Missense_Mutation	SNP	G	G	A	rs375702916		TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr10:28229610G>A	ENST00000305242.5	-	13	1960	c.1868C>T	c.(1867-1869)aCg>aTg	p.T623M	ARMC4_ENST00000545014.1_Missense_Mutation_p.T148M|ARMC4_ENST00000537576.1_Missense_Mutation_p.T315M	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	623					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.T623M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTCTTTATTCGTATGACTCTT	0.532																																																1	Substitution - Missense(1)	kidney(1)						A	MET/THR	0,4406		0,0,2203	115	105	108		1868	2.2	0	10		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARMC4	NM_018076.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	623/1045	28229610	1,13005	2203	4300	6503	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1868C>T	10.37:g.28229610G>A	ENSP00000306410:p.Thr623Met		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	g	4.132	0.022685	0.08006	0.0	1.16E-4	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.65178	-0.14;-0.14;-0.14	5.24	2.16	0.27623	Armadillo-like helical (1);Armadillo-type fold (2);	1.286300	0.04796	N	0.432595	T	0.65048	0.2654	L	0.39245	1.2	0.09310	N	1	D;B	0.61697	0.99;0.006	P;B	0.56648	0.803;0.003	T	0.50268	-0.8848	10	0.62326	D	0.03	-0.1639	4.2904	0.10876	0.0803:0.3373:0.4059:0.1765	.	148;623	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	M	315;623;148	ENSP00000443208:T315M;ENSP00000306410:T623M;ENSP00000441076:T148M	ENSP00000306410:T623M	T	-	2	0	ARMC4	28269616	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	1.237000	0.32695	0.704000	0.31869	-0.119000	0.15052	ACG		0.532	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		A	28229610	G	A	28229610	3	1	208	1	0	0	0	0	1	0	0	0	953	1145	40	1	1298	1	ARMC4	10	28229610	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10		28229610	107305137	26	12631											
OPN4	94233	broad.mit.edu;hgsc.bcm.edu	37	10	88422065	88422065	+	Missense_Mutation	SNP	G	G	A	rs142050572		TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr10:88422065G>A	ENST00000241891.5	+	8	1297	c.1130G>A	c.(1129-1131)cGg>cAg	p.R377Q	OPN4_ENST00000372071.2_Missense_Mutation_p.R388Q	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	377					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)	p.R388Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GTATCACGCCGGCACAGTCGC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		16865	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	36	28	31		1163,1130	1.4	0.3	10	dbSNP_134	31	1,8597		0,1,4298	yes	missense,missense	OPN4	NM_001030015.2,NM_033282.3	43,43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	388/490,377/479	88422065	1,13003	2203	4299	6502	SO:0001583	missense	94233			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1130G>A	10.37:g.88422065G>A	ENSP00000241891:p.Arg377Gln		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	CCDS7376.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.037	-0.198384	0.06219	0.0	1.16E-4	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.38401	1.14;1.14;1.14	5.39	1.37	0.22104	.	0.528842	0.18832	N	0.129956	T	0.08492	0.0211	N	0.00583	-1.355	0.09310	N	1	B;B;B	0.18166	0.026;0.005;0.015	B;B;B	0.06405	0.001;0.001;0.002	T	0.35574	-0.9783	10	0.12103	T	0.63	.	6.3953	0.21609	0.6399:0.134:0.2261:0.0	.	388;377;388	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	Q	388;377;388	ENSP00000361141:R388Q;ENSP00000241891:R377Q;ENSP00000393132:R388Q	ENSP00000241891:R377Q	R	+	2	0	OPN4	88412045	0.321000	0.24625	0.274000	0.24659	0.910000	0.53928	1.674000	0.37544	0.343000	0.23821	-0.302000	0.09304	CGG		0.677	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		A	88422065	G	A	88422065	3	1	208	1	0	0	0	0	1	0	0	0	10884	1116	39	1	1197	1	OPN4	10	88422065	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	60192455	88422065	47112682	27	12632											
IPO7	10527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	9459375	9459375	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr11:9459375G>A	ENST00000379719.3	+	21	2485	c.2343G>A	c.(2341-2343)atG>atA	p.M781I		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	781					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.M781I(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTCGAACTATGTGTCTGCAAG	0.373																																																1	Substitution - Missense(1)	kidney(1)											88	80	83					11																	9459375		2201	4294	6495	SO:0001583	missense	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2343G>A	11.37:g.9459375G>A	ENSP00000369042:p.Met781Ile		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849356	0.91277	.	.	ENSG00000205339	ENST00000379719	T	0.65732	-0.17	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.88512	2.96	0.80722	D	1	P	0.47545	0.897	P	0.50537	0.643	T	0.76102	-0.3082	10	0.19590	T	0.45	.	18.1413	0.89641	0.0:0.0:1.0:0.0	.	781	O95373	IPO7_HUMAN	I	781	ENSP00000369042:M781I	ENSP00000369042:M781I	M	+	3	0	IPO7	9415951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.270000	0.75569	0.460000	0.39030	ATG		0.373	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		A	9459375	G	A	9459375	3	1	208	1	0	0	0	0	1	0	0	0	7799	1377	48	2	2425	2	IPO7	11	9459375	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10		9459375	125547141	28	12633											
OR10G4	390264	broad.mit.edu;hgsc.bcm.edu	37	11	123887117	123887117	+	Missense_Mutation	SNP	C	C	T	rs201358968	byFrequency	TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr11:123887117C>T	ENST00000320891.4	+	1	836	c.836C>T	c.(835-837)aCg>aTg	p.T279M		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T279M(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACTGTGCTGACGCCCCTTCTC	0.473													-|||	2	0.000399361	0.0	0.0029	5008	,	,		19664	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	large_intestine(1)|kidney(1)						C	MET/THR	0,4402		0,0,2201	108	93	98		836	2.6	0.5	11		98	3,8595		0,3,4296	yes	missense	OR10G4	NM_001004462.1	81	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	279/312	123887117	3,12997	2201	4299	6500	SO:0001583	missense	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.836C>T	11.37:g.123887117C>T	ENSP00000325076:p.Thr279Met		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	N	11.01	1.513019	0.27123	0.0	3.49E-4	ENSG00000254737	ENST00000320891	T	0.38401	1.14	3.48	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001050	T	0.62429	0.2427	M	0.90309	3.105	0.22996	N	0.998452	D	0.76494	0.999	D	0.72338	0.977	T	0.56275	-0.8006	10	0.87932	D	0	.	10.2744	0.43501	0.0:0.8997:0.0:0.1003	.	279	Q8NGN3	O10G4_HUMAN	M	279	ENSP00000325076:T279M	ENSP00000325076:T279M	T	+	2	0	OR10G4	123392327	0.000000	0.05858	0.491000	0.27477	0.069000	0.16628	0.831000	0.27476	0.809000	0.34255	0.580000	0.79431	ACG		0.473	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		T	123887117	C	T	123887117	3	4	208	1	0	0	0	0	1	0	0	0	10903	536	19	1	838	1	OR10G4	11	123887117	Missense_Mutation	SNP	C	TCGA-B0-5691-01A-11D-1534-10	114427742	123887117	11119399	29	12634											
A2ML1	144568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9008181	9008181	+	Silent	SNP	G	G	A	rs201562692		TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr12:9008181G>A	ENST00000299698.7	+	23	3021	c.2841G>A	c.(2839-2841)acG>acA	p.T947T	A2ML1_ENST00000539547.1_Silent_p.T456T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.T947T(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CTTATGTTACGGTTCTGGGTA	0.512																																																1	Substitution - coding silent(1)	kidney(1)						G		0,3912		0,0,1956	114	105	108		2841	-4	0.3	12		108	5,8267		0,5,4131	no	coding-synonymous	A2ML1	NM_144670.3		0,5,6087	AA,AG,GG		0.0604,0.0,0.041		947/1455	9008181	5,12179	1956	4136	6092	SO:0001819	synonymous_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2841G>A	12.37:g.9008181G>A				Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.512	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		A	9008181	G	A	9008181	2	1	208	1	0	0	0	0	0	0	0	1	5	1103	39	1		1	A2ML1	12	9008181	Silent	SNP	G	TCGA-B0-5691-01A-11D-1534-10		9008181	124843714	30	12635											
PRB4	5545	broad.mit.edu;hgsc.bcm.edu	37	12	11461568	11461568	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr12:11461568G>T	ENST00000535904.1	-	3	382	c.349C>A	c.(349-351)Cca>Aca	p.P117T	PRB4_ENST00000279575.1_Missense_Mutation_p.P117T|PRB4_ENST00000445719.2_Intron			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	138	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region (GO:0005576)		p.P117T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGCTTTCCTGGAGGAGGTGGG	0.597										HNSCC(22;0.051)																																						1	Substitution - Missense(1)	kidney(1)											145	161	155					12																	11461568		2203	4300	6503	SO:0001583	missense	5545				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.349C>A	12.37:g.11461568G>T	ENSP00000442834:p.Pro117Thr		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	3.507	-0.100609	0.06967	.	.	ENSG00000230657	ENST00000279575;ENST00000535904	T;T	0.06068	3.35;3.35	0.796	-0.246	0.13022	.	.	.	.	.	T	0.10121	0.0248	M	0.75777	2.31	0.09310	N	1	D	0.61080	0.989	P	0.47744	0.556	T	0.17623	-1.0363	9	0.46703	T	0.11	.	3.3145	0.07029	0.3284:0.0:0.6716:0.0	.	117	E9PAL0	.	T	117	ENSP00000279575:P117T;ENSP00000442834:P117T	ENSP00000279575:P117T	P	-	1	0	PRB4	11352835	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	-0.380000	0.07427	-0.128000	0.11641	0.197000	0.17608	CCA		0.597	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		T	11461568	G	T	11461568	3	4	208	1	0	0	0	0	1	0	0	0	12450	1174	41	4	398	4	PRB4	12	11461568	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	2453387	11461568	122390327	31	12636											
C12orf11	55726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	27081163	27081163	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr12:27081163T>C	ENST00000261191.7	-	5	1095	c.559A>G	c.(559-561)Aac>Gac	p.N187D	ASUN_ENST00000539625.1_Missense_Mutation_p.N86D	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	187					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N187D(1)									GCAAGCTTGTTATGTTCATGA	0.299																																																1	Substitution - Missense(1)	kidney(1)											100	93	95					12																	27081163		2203	4300	6503	SO:0001583	missense	0			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.559A>G	12.37:g.27081163T>C	ENSP00000261191:p.Asn187Asp		B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454702	0.84209	.	.	ENSG00000064102	ENST00000261191;ENST00000539625;ENST00000538727;ENST00000544548	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.56	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.76838	2.35	0.80722	D	1	P	0.35468	0.503	B	0.37833	0.259	T	0.64782	-0.6326	10	0.87932	D	0	-18.6271	12.2716	0.54710	0.1272:0.0:0.0:0.8727	.	187	Q9NVM9	M89BB_HUMAN	D	187;86;86;187	ENSP00000261191:N187D;ENSP00000443724:N86D;ENSP00000448467:N86D;ENSP00000446183:N187D	ENSP00000261191:N187D	N	-	1	0	C12orf11	26972430	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.165000	0.77544	1.028000	0.39785	-0.336000	0.08194	AAC		0.299	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		C	27081163	T	C	27081163	3	2	208	1	0	0	0	0	1	0	0	0	1677	1754	61	3	1613	3	C12orf11	12	27081163	Missense_Mutation	SNP	T	TCGA-B0-5691-01A-11D-1534-10	15619595	27081163	106770732	32	12637											
C12orf35	55196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32134198	32134198	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr12:32134198A>C	ENST00000312561.4	+	4	723	c.309A>C	c.(307-309)caA>caC	p.Q103H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	103								p.Q103H(1)									GACCCAAACAACTAACTCACA	0.393																																																1	Substitution - Missense(1)	kidney(1)											89	83	85					12																	32134198		2203	4300	6503	SO:0001583	missense	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.309A>C	12.37:g.32134198A>C	ENSP00000310338:p.Gln103His		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	17.60	3.431102	0.62844	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.09911	2.93;2.93	5.59	-5.03	0.02973	.	0.551000	0.16804	N	0.198842	T	0.05318	0.0141	L	0.34521	1.04	0.09310	N	1	P	0.48294	0.908	B	0.40677	0.337	T	0.17018	-1.0383	9	.	.	.	.	2.3701	0.04328	0.2506:0.2163:0.3844:0.1487	.	103	Q9HCM1	CL035_HUMAN	H	103	ENSP00000310338:Q103H;ENSP00000370442:Q103H	.	Q	+	3	2	C12orf35	32025465	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.242000	0.08928	-1.308000	0.02318	-0.280000	0.10049	CAA		0.393	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		C	32134198	A	C	32134198	3	2	208	1	0	0	0	0	1	0	0	0	1684	40	2	5	311	5	C12orf35	12	32134198	Missense_Mutation	SNP	A	TCGA-B0-5691-01A-11D-1534-10	5053035	32134198	101717697	33	12638											
LMO7	4008	hgsc.bcm.edu;ucsc.edu	37	13	76381790	76381791	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr13:76381790_76381791insT	ENST00000321797.8	+	8	1393_1394	c.672_673insT	c.(673-675)ttafs	p.L225fs	LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.L510fs|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000357063.3_Frame_Shift_Ins_p.L510fs|LMO7_ENST00000465261.2_Frame_Shift_Ins_p.L225fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	510					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGATCCTGACTTAGAGAATGA	0.46																																																0																																										SO:0001589	frameshift_variant	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.674dupT	13.37:g.76381792_76381792dupT	ENSP00000317802:p.Leu225fs		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Ins	INS	ENST00000321797.8	37																																																																																					0.46	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		T	76381791	-	T	76381790	7	5	208	1	0	1	1	0	0	0	0	0	8857	564	20	0	1569	0	LMO7	13	76381790	Frame_Shift_Ins	INS	-	TCGA-B0-5691-01A-11D-1534-10		76381790	38788088	34	12639											
CARS2	79587	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	111340142	111340142	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr13:111340142G>T	ENST00000257347.4	-	5	560	c.497C>A	c.(496-498)aCc>aAc	p.T166N	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	166					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)	p.T166N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AATATTTTCGGTTACCCTCAG	0.463																																																1	Substitution - Missense(1)	kidney(1)											150	156	154					13																	111340142		2203	4300	6503	SO:0001583	missense	79587			BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.497C>A	13.37:g.111340142G>T	ENSP00000257347:p.Thr166Asn		Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999273	0.54147	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.39997	1.05	4.71	4.71	0.59529	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	H	0.98918	4.37	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.88362	0.2988	10	0.87932	D	0	-18.1091	16.8035	0.85620	0.0:0.0:1.0:0.0	.	166	Q9HA77	SYCM_HUMAN	N	166;157	ENSP00000257347:T166N	ENSP00000257347:T166N	T	-	2	0	CARS2	110138143	1.000000	0.71417	0.591000	0.28745	0.016000	0.09150	7.467000	0.80930	2.303000	0.77524	0.557000	0.71058	ACC		0.463	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		T	111340142	G	T	111340142	3	4	208	1	0	0	0	0	1	0	0	0	2660	1261	44	4	1241	4	CARS2	13	111340142	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	34958352	111340142	3829736	35	12640											
NFATC4	4776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24845299	24845299	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr14:24845299T>G	ENST00000250373.4	+	8	2189	c.2048T>G	c.(2047-2049)tTt>tGt	p.F683C	NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000553469.1_Missense_Mutation_p.F715C|NFATC4_ENST00000555453.1_Missense_Mutation_p.F671C|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.F746C|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000554661.1_Missense_Mutation_p.F613C|NFATC4_ENST00000413692.2_Missense_Mutation_p.F746C|NFATC4_ENST00000554344.1_Missense_Mutation_p.F613C|NFATC4_ENST00000424781.2_Missense_Mutation_p.F696C|NFATC4_ENST00000555590.1_Missense_Mutation_p.F696C|NFATC4_ENST00000554050.1_Missense_Mutation_p.F683C|NFATC4_ENST00000539237.2_Missense_Mutation_p.F715C|NFATC4_ENST00000553708.1_Missense_Mutation_p.F683C|NFATC4_ENST00000556169.1_Missense_Mutation_p.F671C|NFATC4_ENST00000556759.1_Missense_Mutation_p.F218C|NFATC4_ENST00000555167.1_Missense_Mutation_p.F218C|NFATC4_ENST00000554966.1_Missense_Mutation_p.F696C|NFATC4_ENST00000557451.1_Missense_Mutation_p.F613C|NFATC4_ENST00000422617.3_Missense_Mutation_p.F671C|NFATC4_ENST00000553879.1_Missense_Mutation_p.F613C|NFATC4_ENST00000556279.1_Missense_Mutation_p.F715C|NFATC4_ENST00000554473.1_Missense_Mutation_p.F218C	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	683	IPT/TIG.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.F746C(1)|p.F683C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGTTTCAGGTTTCTGCCTGGT	0.577																																																2	Substitution - Missense(2)	kidney(2)											95	103	100					14																	24845299		2203	4300	6503	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2048T>G	14.37:g.24845299T>G	ENSP00000250373:p.Phe683Cys		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451119	0.63290	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36878	2.98;3.0;2.98;3.02;3.0;3.0;2.97;3.01;3.02;2.99;3.01;2.66;2.66;2.7;2.69;2.68;2.68;2.65;1.28;1.24;1.23	5.36	5.36	0.76844	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.113377	0.64402	D	0.000014	T	0.49253	0.1546	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.998;0.999;1.0;1.0;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.74674	0.947;0.964;0.951;0.964;0.951;0.973;0.964;0.98;0.98;0.964;0.973;0.973;0.984	T	0.51204	-0.8735	10	0.87932	D	0	-6.7618	8.6427	0.33987	0.17:0.0:0.0:0.83	.	671;671;715;715;696;696;696;746;746;671;715;746;683	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	C	746;746;696;696;696;715;715;715;683;683;683;613;613;613;671;613;671;671;218;218;218	ENSP00000388910:F746C;ENSP00000452039:F746C;ENSP00000451224:F696C;ENSP00000450644:F696C;ENSP00000388668:F696C;ENSP00000439350:F715C;ENSP00000452270:F715C;ENSP00000451502:F715C;ENSP00000451151:F683C;ENSP00000250373:F683C;ENSP00000450590:F683C;ENSP00000452349:F613C;ENSP00000450469:F613C;ENSP00000450733:F613C;ENSP00000451454:F671C;ENSP00000451284:F613C;ENSP00000396788:F671C;ENSP00000450686:F671C;ENSP00000450810:F218C;ENSP00000451183:F218C;ENSP00000451395:F218C	ENSP00000250373:F683C	F	+	2	0	NFATC4	23915139	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.901000	0.48695	2.246000	0.74042	0.533000	0.62120	TTT		0.577	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		G	24845299	T	G	24845299	3	3	208	1	0	0	0	0	1	0	0	0	10367	1841	64	5	2271	5	NFATC4	14	24845299	Missense_Mutation	SNP	T	TCGA-B0-5691-01A-11D-1534-10		24845299	82504241	36	12641											
AK7	122481	hgsc.bcm.edu	37	14	96949471	96949472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr14:96949471_96949472insG	ENST00000267584.4	+	16	1933_1934	c.1889_1890insG	c.(1888-1893)ctggccfs	p.A631fs		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	631	Glu-rich.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GAGGAGCGGCTGGCCAGGGAGG	0.569																																																0																																										SO:0001589	frameshift_variant	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1891dupG	14.37:g.96949473_96949473dupG	ENSP00000267584:p.Ala631fs		Q8IYP6	Frame_Shift_Ins	INS	ENST00000267584.4	37	CCDS9945.1																																																																																				0.569	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			G	96949472	-	G	96949471	7	5	208	1	0	1	1	0	0	0	0	0	444	1580	55	0	1951	0	AK7	14	96949471	Frame_Shift_Ins	INS	-	TCGA-B0-5691-01A-11D-1534-10	72104172	96949471	10400069	37	12642											
NARG2	79664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	60740179	60740179	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr15:60740179T>A	ENST00000261520.4	-	11	2519	c.2285A>T	c.(2284-2286)aAa>aTa	p.K762I	NARG2_ENST00000439632.1_Missense_Mutation_p.K625I	NM_024611.4	NP_078887.2												p.K762I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCTTCTGATTTTCTTCCGTTT	0.343																																																1	Substitution - Missense(1)	kidney(1)											160	149	153					15																	60740179		2203	4300	6503	SO:0001583	missense	79664																														ENST00000261520.4:c.2285A>T	15.37:g.60740179T>A	ENSP00000261520:p.Lys762Ile			Missense_Mutation	SNP	ENST00000261520.4	37	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181173	0.78677	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.9	4.78	0.61160	NMDA receptor-regulated gene protein 2 (1);	0.203908	0.51477	D	0.000100	T	0.63745	0.2537	L	0.36672	1.1	0.41313	D	0.987124	D	0.69078	0.997	D	0.66847	0.947	T	0.66044	-0.6021	9	0.87932	D	0	-24.8787	9.8545	0.41077	0.0:0.0771:0.0:0.9229	.	762	Q659A1	NARG2_HUMAN	I	762;625	.	ENSP00000261520:K762I	K	-	2	0	NARG2	58527471	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.454000	0.44979	1.054000	0.40438	0.477000	0.44152	AAA		0.343	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			A	60740179	T	A	60740179	3	1	208	1	0	0	0	0	1	0	0	0	10171	1841	64	5	687	5	NARG2	15	60740179	Missense_Mutation	SNP	T	TCGA-B0-5691-01A-11D-1534-10		60740179	41791213	38	12643											
SOLH	6650	broad.mit.edu	37	16	603028	603063	+	Splice_Site	DEL	CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	-	rs370987722|rs373525992|rs560177562	byFrequency	TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr16:603028_603063delCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	ENST00000219611.2	+	13	3433_3446	c.3070_3083delCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	c.(3070-3084)ccacccctgcacagg>g	p.PPLHR1024del	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1024					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1028W(1)|p.?(1)									GGATAGCGTGCCACCCCTGCACAGGTGcgcccccgcccctgcccccccacccctgc	0.708																																																2	Substitution - Missense(1)|Unknown(1)	lung(2)																																								SO:0001630	splice_region_variant	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.3083+1CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC>-	16.37:g.603028_603063delCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC			B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Splice_Site	DEL	ENST00000219611.2	37	CCDS10410.1																																																																																				0.708	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632	In_Frame_Del	-	603063	CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	-	603028	8	5	208	1	0	1	0	1	0	0	1	0	14931	739	26	0	3108	0	SOLH	16	603028	Splice_Site	DEL	CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	TCGA-B0-5691-01A-11D-1534-10		603028	89751725	39	12644											
MMP2	4313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	55519518	55519518	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr16:55519518G>A	ENST00000219070.4	+	5	1170	c.661G>A	c.(661-663)Gtc>Atc	p.V221I	MMP2_ENST00000570308.1_Missense_Mutation_p.V145I|MMP2_ENST00000437642.2_Missense_Mutation_p.V171I|MMP2_ENST00000543485.1_Missense_Mutation_p.V145I	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	221	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.V221I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CTCTTTAGTGGTCCGTGTGAA	0.542																																																1	Substitution - Missense(1)	kidney(1)											116	97	104					16																	55519518		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.661G>A	16.37:g.55519518G>A	ENSP00000219070:p.Val221Ile		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949674	0.53186	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.09350	2.99;2.99;2.99	4.39	4.39	0.52855	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (1);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	T	0.12220	0.0297	N	0.22421	0.69	0.80722	D	1	B;P	0.44195	0.303;0.828	P;P	0.47015	0.534;0.449	T	0.17018	-1.0383	10	0.32370	T	0.25	.	17.0342	0.86470	0.0:0.0:1.0:0.0	.	171;221	E9PE45;P08253	.;MMP2_HUMAN	I	221;145;171	ENSP00000219070:V221I;ENSP00000444143:V145I;ENSP00000394237:V171I	ENSP00000219070:V221I	V	+	1	0	MMP2	54077019	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	8.050000	0.89445	2.011000	0.59026	0.436000	0.28706	GTC		0.542	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			A	55519518	G	A	55519518	3	1	208	1	0	0	0	0	1	0	0	0	9660	1261	44	2	686	2	MMP2	16	55519518	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	54916490	55519518	34835235	40	12645											
ADAMTS18	170692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	77353798	77353798	+	Missense_Mutation	SNP	C	C	T	rs149031657	byFrequency	TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr16:77353798C>T	ENST00000282849.5	-	16	2898	c.2480G>A	c.(2479-2481)cGc>cAc	p.R827H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	827	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R827H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGTTCCGGGCGGTTGAAAGA	0.542																																																1	Substitution - Missense(1)	kidney(1)											58	58	58					16																	77353798		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2480G>A	16.37:g.77353798C>T	ENSP00000282849:p.Arg827His		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058475	0.36277	.	.	ENSG00000140873	ENST00000282849	T	0.52057	0.68	5.54	-7.54	0.01332	ADAM-TS Spacer 1 (1);	0.503008	0.22144	N	0.064016	T	0.20333	0.0489	N	0.11313	0.125	0.25930	N	0.983009	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.05084	-1.0907	10	0.40728	T	0.16	.	9.665	0.39979	0.1016:0.2297:0.0:0.6687	.	827;827	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	H	827	ENSP00000282849:R827H	ENSP00000282849:R827H	R	-	2	0	ADAMTS18	75911299	0.001000	0.12720	0.137000	0.22149	0.730000	0.41778	-0.759000	0.04761	-1.307000	0.02321	-1.603000	0.00810	CGC		0.542	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77353798	C	T	77353798	3	4	208	1	0	0	0	0	1	0	0	0	263	768	27	1	1217	1	ADAMTS18	16	77353798	Missense_Mutation	SNP	C	TCGA-B0-5691-01A-11D-1534-10	21834280	77353798	13000955	41	12646											
PER1	5187	broad.mit.edu;ucsc.edu	37	17	8052099	8052099	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr17:8052099C>A	ENST00000317276.4	-	8	1148	c.911G>T	c.(910-912)gGt>gTt	p.G304V	PER1_ENST00000581082.1_Missense_Mutation_p.G284V|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000354903.5_Missense_Mutation_p.G288V	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	304					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.G304V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCGGTCAGGACCTCCTCTAGC	0.587			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	1	Substitution - Missense(1)	kidney(1)											48	47	48					17																	8052099		2203	4300	6503	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.911G>T	17.37:g.8052099C>A	ENSP00000314420:p.Gly304Val		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603006	0.87157	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.41065	2.38;1.01	5.28	5.28	0.74379	.	0.051936	0.85682	D	0.000000	T	0.60130	0.2245	M	0.77616	2.38	0.80722	D	1	P;D	0.65815	0.768;0.995	B;P	0.55112	0.282;0.769	T	0.66304	-0.5957	10	0.87932	D	0	-12.0585	16.405	0.83656	0.0:1.0:0.0:0.0	.	288;304	B4DI49;O15534	.;PER1_HUMAN	V	304;288	ENSP00000314420:G304V;ENSP00000346979:G288V	ENSP00000314420:G304V	G	-	2	0	PER1	7992824	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.016000	0.64041	2.483000	0.83821	0.563000	0.77884	GGT		0.587	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8052099	C	A	8052099	3	1	208	1	0	0	0	0	1	0	0	0	11731	507	18	4	3025	4	PER1	17	8052099	Missense_Mutation	SNP	C	TCGA-B0-5691-01A-11D-1534-10		8052099	73143111	42	12647											
SMARCE1	6605	hgsc.bcm.edu;ucsc.edu	37	17	38793756	38793758	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr17:38793756_38793758delCCT	ENST00000348513.6	-	5	1003_1005	c.223_225delAGG	c.(223-225)aggdel	p.R75del	KRT222_ENST00000476049.1_Intron|SMARCE1_ENST00000578044.1_In_Frame_Del_p.R5del|SMARCE1_ENST00000377808.4_In_Frame_Del_p.R40del|SMARCE1_ENST00000544009.1_In_Frame_Del_p.R5del|SMARCE1_ENST00000400122.3_In_Frame_Del_p.R5del|SMARCE1_ENST00000580419.1_In_Frame_Del_p.R40del|SMARCE1_ENST00000431889.2_In_Frame_Del_p.R57del	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	75					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TTCTGCTGTACCTCATGTAGGGC	0.458																																																0																																										SO:0001651	inframe_deletion	6605			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.223_225delAGG	17.37:g.38793756_38793758delCCT	ENSP00000323967:p.Arg75del		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	In_Frame_Del	DEL	ENST00000348513.6	37	CCDS11370.1																																																																																				0.458	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		-	38793758	CCT	-	38793756	7	5	208	1	0	1	0	1	0	0	0	0	14786	506	18	0	1038	0	SMARCE1	17	38793756	In_Frame_Del	DEL	CCT	TCGA-B0-5691-01A-11D-1534-10	30741657	38793756	42401454	43	12648											
KRTAP1-1	81851	hgsc.bcm.edu	37	17	39197638	39197638	+	Silent	SNP	A	A	G	rs112542604	byFrequency	TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr17:39197638A>G	ENST00000306271.4	-	1	75	c.12T>C	c.(10-12)tgT>tgC	p.C4C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	4						keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGTCTGACAGCAGGCCA	0.562													a|||	527	0.105232	0.1899	0.1153	5008	,	,		16504	0.1597		0.0169	False		,,,				2504	0.0184															0								A		553,3361		37,479,1441	49	54	53		12	-3.9	0	17	dbSNP_132	53	124,8182		5,114,4034	no	coding-synonymous	KRTAP1-1	NM_030967.2		42,593,5475	GG,GA,AA		1.4929,14.1288,5.5401		4/178	39197638	677,11543	1957	4153	6110	SO:0001819	synonymous_variant	81851			AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.12T>C	17.37:g.39197638A>G			A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	CCDS42324.1																																																																																				0.562	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		G	39197638	A	G	39197638	2	3	208	1	0	0	0	0	0	0	0	1	8504	273	10	3		3	KRTAP1-1	17	39197638	Silent	SNP	A	TCGA-B0-5691-01A-11D-1534-10	403882	39197638	41997572	44	12649											
KLHL10	317719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40004451	40004451	+	Silent	SNP	A	A	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr17:40004451A>C	ENST00000293303.4	+	5	1872	c.1719A>C	c.(1717-1719)ccA>ccC	p.P573P	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	573					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)		p.P573P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GTGTAGTACCAGGGCTGGCCA	0.463																																																1	Substitution - coding silent(1)	kidney(1)											122	121	122					17																	40004451		2003	4176	6179	SO:0001819	synonymous_variant	317719			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1719A>C	17.37:g.40004451A>C			Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	CCDS42340.1																																																																																				0.463	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		C	40004451	A	C	40004451	2	2	208	1	0	0	0	0	0	0	0	1	8368	175	7	5		5	KLHL10	17	40004451	Silent	SNP	A	TCGA-B0-5691-01A-11D-1534-10	806813	40004451	41190759	45	12650											
LAMA3	3909	hgsc.bcm.edu	37	18	21353525	21353525	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr18:21353525C>G	ENST00000313654.9	+	9	1488	c.1247C>G	c.(1246-1248)cCa>cGa	p.P416R	LAMA3_ENST00000399516.3_Missense_Mutation_p.P416R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	416	Domain V.|Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TATGGGGTTCCAGTGGATGCC	0.463																																																0													68	71	70					18																	21353525		1908	4109	6017	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1247C>G	18.37:g.21353525C>G	ENSP00000324532:p.Pro416Arg		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559992	0.65538	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.20463	2.09;2.07	5.77	5.77	0.91146	EGF-like, laminin (3);	.	.	.	.	T	0.48502	0.1503	M	0.70108	2.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.999	T	0.27502	-1.0072	9	0.48119	T	0.1	.	19.1176	0.93348	0.0:1.0:0.0:0.0	.	416;416;416	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	R	416;416;414;416	ENSP00000324532:P416R;ENSP00000382432:P416R	ENSP00000324532:P416R	P	+	2	0	LAMA3	19607523	0.999000	0.42202	0.948000	0.38648	0.403000	0.30841	4.563000	0.60823	2.884000	0.98904	0.655000	0.94253	CCA		0.463	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		G	21353525	C	G	21353525	3	3	208	1	0	0	0	0	1	0	0	0	8609	594	21	4	1281	4	LAMA3	18	21353525	Missense_Mutation	SNP	C	TCGA-B0-5691-01A-11D-1534-10		21353525	56723723	46	12651	93	2									
LAMA3	3909	hgsc.bcm.edu;ucsc.edu	37	18	21353526	21353527	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr18:21353526_21353527insT	ENST00000313654.9	+	9	1489_1490	c.1248_1249insT	c.(1249-1251)gtgfs	p.V417fs	LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.V417fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	417	Domain V.|Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATGGGGTTCCAGTGGATGCCCC	0.46																																																0																																										SO:0001589	frameshift_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	Exception_encountered	18.37:g.21353526_21353527insT	ENSP00000324532:p.Val417fs		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Ins	INS	ENST00000313654.9	37	CCDS42419.1																																																																																				0.46	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21353527	-	T	21353526	7	5	208	1	0	1	1	0	0	0	0	0	8609	175	7	0	1282	0	LAMA3	18	21353526	Frame_Shift_Ins	INS	-	TCGA-B0-5691-01A-11D-1534-10	1	21353526	56723722	47	12652	93	2									
S1PR4	8698	broad.mit.edu	37	19	3179916	3179916	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr19:3179916T>C	ENST00000246115.3	+	1	1181	c.1126T>C	c.(1126-1128)Tcc>Ccc	p.S376P		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	376					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.S376P(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GGAGCCCCTGTCCAGCATCTC	0.652																																					GBM(82;318 1638 33279 49708)											2	Substitution - Missense(2)	kidney(2)											50	59	56					19																	3179916		2144	4192	6336	SO:0001583	missense	8698			AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.1126T>C	19.37:g.3179916T>C	ENSP00000246115:p.Ser376Pro		D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.537162	0.45176	.	.	ENSG00000125910	ENST00000246115	D	0.82526	-1.62	3.94	0.423	0.16463	.	0.833523	0.10513	N	0.665950	T	0.71400	0.3335	N	0.24115	0.695	0.37565	D	0.919227	B	0.02656	0.0	B	0.04013	0.001	T	0.59963	-0.7355	10	0.62326	D	0.03	.	9.411	0.38491	0.6353:0.0:0.0:0.3647	.	376	O95977	S1PR4_HUMAN	P	376	ENSP00000246115:S376P	ENSP00000246115:S376P	S	+	1	0	S1PR4	3130916	0.999000	0.42202	0.997000	0.53966	0.971000	0.66376	0.607000	0.24209	-0.218000	0.10018	0.459000	0.35465	TCC		0.652	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		C	3179916	T	C	3179916	3	2	208	1	0	0	0	0	1	0	0	0	13802	1667	58	3	1128	3	S1PR4	19	3179916	Missense_Mutation	SNP	T	TCGA-B0-5691-01A-11D-1534-10		3179916	55949067	48	12653											
GDF15	9518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18497194	18497194	+	Silent	SNP	C	C	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr19:18497194C>A	ENST00000252809.3	+	1	227	c.195C>A	c.(193-195)acC>acA	p.T65T	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	65					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.T65T(1)		kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						ACCTGCTAACCAGGCTGCGGG	0.602																																																1	Substitution - coding silent(1)	kidney(1)											39	38	39					19																	18497194		2203	4300	6503	SO:0001819	synonymous_variant	9518			BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"prostate differentiation factor"	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.195C>A	19.37:g.18497194C>A			O14629|P78360|Q9BWA0|Q9NRT0	Silent	SNP	ENST00000252809.3	37	CCDS12376.1																																																																																				0.602	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		A	18497194	C	A	18497194	2	1	208	1	0	0	0	0	0	0	0	1	6315	581	21	4		4	GDF15	19	18497194	Silent	SNP	C	TCGA-B0-5691-01A-11D-1534-10	15317278	18497194	40631789	49	12654											
LIG1	3978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	48634399	48634399	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr19:48634399C>A	ENST00000263274.7	-	19	2174	c.1755G>T	c.(1753-1755)aaG>aaT	p.K585N	LIG1_ENST00000536218.1_Missense_Mutation_p.K517N|LIG1_ENST00000427526.2_Missense_Mutation_p.K554N	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	585					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.K585N(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGCTGAAGATCTTCACCTCCC	0.582								Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	kidney(1)											207	136	160					19																	48634399		2203	4300	6503	SO:0001583	missense	3978				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1755G>T	19.37:g.48634399C>A	ENSP00000263274:p.Lys585Asn		B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874149	0.33069	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	D;D;D	0.82255	-1.59;-1.59;-1.59	5.49	2.23	0.28157	DNA ligase, ATP-dependent, central (1);	0.281296	0.33916	N	0.004432	T	0.73497	0.3594	L	0.54323	1.7	0.80722	D	1	B;B;B	0.33299	0.247;0.192;0.407	B;B;B	0.33799	0.17;0.045;0.17	T	0.64305	-0.6439	10	0.27082	T	0.32	-34.601	3.8993	0.09154	0.1686:0.5705:0.0:0.2609	.	554;517;585	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	N	585;616;554;517	ENSP00000263274:K585N;ENSP00000442841:K554N;ENSP00000441531:K517N	ENSP00000263274:K585N	K	-	3	2	LIG1	53326211	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	0.149000	0.16243	0.812000	0.34326	0.650000	0.86243	AAG		0.582	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		A	48634399	C	A	48634399	3	1	208	1	0	0	0	0	1	0	0	0	8783	912	32	4	1044	4	LIG1	19	48634399	Missense_Mutation	SNP	C	TCGA-B0-5691-01A-11D-1534-10	30137205	48634399	10494584	50	12655											
FCGRT	2217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50017370	50017370	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr19:50017370T>A	ENST00000221466.5	+	3	791	c.305T>A	c.(304-306)tTc>tAc	p.F102Y	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Missense_Mutation_p.F102Y|FCGRT_ENST00000426395.3_Missense_Mutation_p.F102Y|FCGRT_ENST00000599988.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	102	Alpha-1.			Missing (in Ref. 3; AAG31421). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)	p.F102Y(1)		endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CTGGAAGCTTTCAAAGCTTTG	0.587																																																1	Substitution - Missense(1)	kidney(1)											28	33	32					19																	50017370		2203	4299	6502	SO:0001583	missense	2217			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.305T>A	19.37:g.50017370T>A	ENSP00000221466:p.Phe102Tyr		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860629	0.71834	.	.	ENSG00000104870	ENST00000221466;ENST00000426395;ENST00000415900;ENST00000452439	T;T	0.00724	5.78;5.78	4.6	4.6	0.57074	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.930568	0.08708	N	0.905439	T	0.01189	0.0039	L	0.46157	1.445	0.09310	N	1	P	0.38440	0.631	B	0.35182	0.197	T	0.52472	-0.8571	10	0.66056	D	0.02	.	10.2953	0.43620	0.0:0.0:0.0:1.0	.	102	P55899	FCGRN_HUMAN	Y	102	ENSP00000221466:F102Y;ENSP00000410798:F102Y	ENSP00000221466:F102Y	F	+	2	0	FCGRT	54709182	0.003000	0.15002	0.004000	0.12327	0.807000	0.45602	1.301000	0.33447	1.936000	0.56123	0.459000	0.35465	TTC		0.587	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			A	50017370	T	A	50017370	3	1	208	1	0	0	0	0	1	0	0	0	5788	1783	62	5	311	5	FCGRT	19	50017370	Missense_Mutation	SNP	T	TCGA-B0-5691-01A-11D-1534-10	1382971	50017370	9111613	51	12656											
PRRG2	5639	hgsc.bcm.edu	37	19	50093217	50093218	+	In_Frame_Ins	INS	-	-	CCACCC			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr19:50093217_50093218insCCACCC	ENST00000246794.5	+	6	667_668	c.498_499insCCACCC	c.(499-501)cca>CCACCCcca	p.167_167P>PPP	PRR12_ENST00000418929.2_5'Flank|PRRG2_ENST00000596700.1_3'UTR	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	167	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		cgcccctgcctccacccccacc	0.658																																																0																																										SO:0001652	inframe_insertion	5639				CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.511_516dupCCACCC	19.37:g.50093218_50093223dupCCACCC	ENSP00000246794:p.ProPro173dup		Q6IBF8	In_Frame_Ins	INS	ENST00000246794.5	37	CCDS12773.1																																																																																				0.658	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465257.1	NM_000951		CCACCC	50093218	-	CCACCC	50093217	7	5	208	1	0	1	1	0	0	0	0	0	12611	1538	54	0	516	0	PRRG2	19	50093217	In_Frame_Ins	INS	-	TCGA-B0-5691-01A-11D-1534-10	75847	50093217	9035766	52	12657											
KIR2DS4	3811	broad.mit.edu;hgsc.bcm.edu	37	19	55351066	55351066	+	Intron	SNP	C	C	T	rs1130503		TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr19:55351066C>T	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.T185M(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGCCACCCACGGAGGGACCT	0.587																																																1	Substitution - Missense(1)	kidney(1)											187	174	179					19																	55351066		2170	4156	6326	SO:0001627	intron_variant	3809			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+14533C>T	19.37:g.55351066C>T			O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000402254.2	37																																																																																					0.587	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		T	55351066	C	T	55351066	1	4	208	0	1	0	0	0	0	0	0	0	8321	536	19	1		1	KIR2DS4	19	55351066	Intron	SNP	C	TCGA-B0-5691-01A-11D-1534-10	5257849	55351066	3777917	53	12658											
ZSCAN18	65982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58597544	58597544	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr19:58597544G>T	ENST00000240727.6	-	6	1234	c.835C>A	c.(835-837)Cca>Aca	p.P279T	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.P335T|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.P279T|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.P144T	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	279					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P335T(1)|p.P279T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACCTCACCTGGGAGGCTGCTT	0.597																																																2	Substitution - Missense(2)	kidney(2)											88	67	74					19																	58597544		2203	4300	6503	SO:0001583	missense	65982			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.835C>A	19.37:g.58597544G>T	ENSP00000240727:p.Pro279Thr		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	G	9.690	1.151653	0.21371	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.03663	4.38;3.85	3.3	-1.54	0.08584	.	0.971866	0.08370	N	0.956326	T	0.02012	0.0063	N	0.19112	0.55	0.09310	N	1	P;P;P;P	0.39809	0.51;0.689;0.642;0.51	B;B;B;B	0.31547	0.045;0.132;0.098;0.045	T	0.48468	-0.9033	10	0.14656	T	0.56	.	7.1276	0.25482	0.6912:0.0:0.3088:0.0	.	335;144;279;279	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	T	335;279;144	ENSP00000240727:P279T;ENSP00000392653:P144T	ENSP00000240727:P279T	P	-	1	0	ZSCAN18	63289356	0.022000	0.18835	0.087000	0.20705	0.186000	0.23388	-0.175000	0.09825	-0.353000	0.08224	0.561000	0.74099	CCA		0.597	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		T	58597544	G	T	58597544	3	4	208	1	0	0	0	0	1	0	0	0	18235	1232	43	4	705	4	ZSCAN18	19	58597544	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	3246478	58597544	531439	54	12659											
MKKS	8195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	10393381	10393381	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr20:10393381A>G	ENST00000347364.3	-	3	1544	c.782T>C	c.(781-783)gTg>gCg	p.V261A	MKKS_ENST00000399054.2_Missense_Mutation_p.V261A	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	261	Substrate-binding apical domain.				artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)	p.V261A(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ATAACTGACCACCACAGTTCC	0.458																																					Melanoma(79;1979 2212 6640)											1	Substitution - Missense(1)	kidney(1)											111	106	107					20																	10393381		2203	4300	6503	SO:0001583	missense	8195			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"Heat Shock Proteins / Chaperonins"	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.782T>C	20.37:g.10393381A>G	ENSP00000246062:p.Val261Ala		A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	A	0.073	-1.198109	0.01594	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.78364	-1.17;-1.17	5.72	3.46	0.39613	.	0.602004	0.18715	N	0.133165	T	0.66577	0.2803	L	0.57536	1.79	0.24644	N	0.993558	B	0.11235	0.004	B	0.12156	0.007	T	0.49762	-0.8905	10	0.09084	T	0.74	-29.4074	4.5363	0.12032	0.6319:0.0:0.2359:0.1322	.	261	Q9NPJ1	MKKS_HUMAN	A	261	ENSP00000246062:V261A;ENSP00000382008:V261A	ENSP00000246062:V261A	V	-	2	0	MKKS	10341381	0.131000	0.22433	0.748000	0.31131	0.389000	0.30415	1.173000	0.31920	0.523000	0.28482	0.528000	0.53228	GTG		0.458	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			G	10393381	A	G	10393381	3	3	208	1	0	0	0	0	1	0	0	0	9602	159	6	3	946	3	MKKS	20	10393381	Missense_Mutation	SNP	A	TCGA-B0-5691-01A-11D-1534-10		10393381	52632139	55	12660											
XRN2	22803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	21321460	21321460	+	Silent	SNP	A	A	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr20:21321460A>T	ENST00000377191.3	+	15	1475	c.1380A>T	c.(1378-1380)gcA>gcT	p.A460A	XRN2_ENST00000430571.2_Silent_p.A384A|XRN2_ENST00000539513.1_Silent_p.A406A	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	460					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A460A(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CGAGACAAGCAGCCTATGAAA	0.428																																																1	Substitution - coding silent(1)	kidney(1)											123	125	125					20																	21321460		2203	4300	6503	SO:0001819	synonymous_variant	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1380A>T	20.37:g.21321460A>T			Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Silent	SNP	ENST00000377191.3	37	CCDS13144.1																																																																																				0.428	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		T	21321460	A	T	21321460	2	4	208	1	0	0	0	0	0	0	0	1	17465	175	7	5		5	XRN2	20	21321460	Silent	SNP	A	TCGA-B0-5691-01A-11D-1534-10	10928079	21321460	41704060	56	12661											
SUN5	140732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31571646	31571646	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr20:31571646G>A	ENST00000356173.3	-	13	1186	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L	SUN5_ENST00000375523.3_Missense_Mutation_p.P340L	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	365					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.P365L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTCTCTGGGCGGGGCCACAGA	0.557																																																1	Substitution - Missense(1)	kidney(1)											75	85	82					20																	31571646		2203	4300	6503	SO:0001583	missense	140732			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.1094C>T	20.37:g.31571646G>A	ENSP00000348496:p.Pro365Leu		A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662797	0.29515	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.12465	2.68;2.7	5.16	-4.18	0.03846	.	0.822034	0.11188	N	0.590237	T	0.09905	0.0243	M	0.65498	2.005	0.09310	N	1	B	0.26041	0.14	B	0.12156	0.007	T	0.36212	-0.9757	10	0.37606	T	0.19	-5.0289	0.4493	0.00499	0.339:0.1192:0.2235:0.3184	.	365	Q8TC36	SUN5_HUMAN	L	365;340	ENSP00000348496:P365L;ENSP00000364673:P340L	ENSP00000348496:P365L	P	-	2	0	SUN5	31035307	0.140000	0.22579	0.001000	0.08648	0.005000	0.04900	0.206000	0.17375	-0.274000	0.09232	-0.181000	0.13052	CCG		0.557	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		A	31571646	G	A	31571646	3	1	208	1	0	0	0	0	1	0	0	0	15399	1116	39	1	49	1	SUN5	20	31571646	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	10250186	31571646	31453874	57	12662											
ZHX3	23051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39832047	39832047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr20:39832047C>A	ENST00000309060.3	-	4	1925	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	ZHX3_ENST00000560361.1_Nonsense_Mutation_p.E504*|ZHX3_ENST00000544979.2_Nonsense_Mutation_p.E504*|ZHX3_ENST00000559234.1_Nonsense_Mutation_p.E504*|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Nonsense_Mutation_p.E504*|ZHX3_ENST00000540170.1_Nonsense_Mutation_p.E504*			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	504	Required for nuclear localization.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E504*(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GACAGCTGTTCATGAGATTTC	0.527																																																1	Substitution - Nonsense(1)	kidney(1)											58	59	58					20																	39832047		2203	4300	6503	SO:0001587	stop_gained	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1510G>T	20.37:g.39832047C>A	ENSP00000312222:p.Glu504*		E1P5W5|F5H820|O43145|Q6NUJ7	Nonsense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.429290|8.429290	0.98808|0.98808	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262|ENST00000421422	.|.	.|.	.|.	5.93|5.93	3.92|3.92	0.45320|0.45320	.|.	0.206543|.	0.49305|.	D|.	0.000147|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.66056|.	D|.	0.02|.	-14.0299|-14.0299	11.4112|11.4112	0.49927|0.49927	0.1333:0.6098:0.2569:0.0|0.1333:0.6098:0.2569:0.0	.|.	.|.	.|.	.|.	X|L	504;504;504;504;282|212	.|.	ENSP00000312222:E504X|.	E|X	-|-	1|2	0|2	ZHX3|ZHX3	39265461|39265461	1.000000|1.000000	0.71417|0.71417	0.571000|0.571000	0.28486|0.28486	0.968000|0.968000	0.65278|0.65278	4.880000|4.880000	0.63107|0.63107	0.777000|0.777000	0.33496|0.33496	0.561000|0.561000	0.74099|0.74099	GAA|TGA		0.527	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		A	39832047	C	A	39832047	4	1	208	1	0	0	0	0	0	1	0	0	17682	835	29	4	1368	4	ZHX3	20	39832047	Nonsense_Mutation	SNP	C	TCGA-B0-5691-01A-11D-1534-10	8260401	39832047	23193473	58	12663											
CDH4	1002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	60511821	60511821	+	Silent	SNP	C	C	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chr20:60511821C>T	ENST00000360469.5	+	16	2659	c.2571C>T	c.(2569-2571)ccC>ccT	p.P857P	CDH4_ENST00000543233.1_Silent_p.P783P	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	857					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P857P(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACAACGACCCCACGGCACCCC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											46	46	46					20																	60511821		2203	4300	6503	SO:0001819	synonymous_variant	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2571C>T	20.37:g.60511821C>T			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																				0.647	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		T	60511821	C	T	60511821	2	4	208	1	0	0	0	0	0	0	0	1	3114	581	21	2		2	CDH4	20	60511821	Silent	SNP	C	TCGA-B0-5691-01A-11D-1534-10	20679774	60511821	2513699	59	12664											
CLCN4	1183	hgsc.bcm.edu;ucsc.edu	37	X	10180545	10180545	+	Silent	SNP	C	C	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chrX:10180545C>T	ENST00000380833.4	+	10	1819	c.1428C>T	c.(1426-1428)ggC>ggT	p.G476G	CLCN4_ENST00000380829.1_Silent_p.G445G|CLCN4_ENST00000421085.2_Silent_p.G382G	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	476					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGCTGTGGGCGCGATAGCGG	0.582																																					Melanoma(74;1050 1296 1576 30544 38374)											0													80	71	74					X																	10180545		2203	4300	6503	SO:0001819	synonymous_variant	1183			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1428C>T	X.37:g.10180545C>T			A1L3U1|B7Z5Z4|Q9UBU1	Silent	SNP	ENST00000380833.4	37	CCDS14137.1																																																																																				0.582	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			T	10180545	C	T	10180545	2	4	208	1	0	0	0	0	0	0	0	1	3467	755	27	1		1	CLCN4	23	10180545	Silent	SNP	C	TCGA-B0-5691-01A-11D-1534-10		10180545	145090015	60	12665											
FAM47C	442444	broad.mit.edu;hgsc.bcm.edu	37	X	37028223	37028223	+	Silent	SNP	C	C	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chrX:37028223C>A	ENST00000358047.3	+	1	1792	c.1740C>A	c.(1738-1740)tcC>tcA	p.S580S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	580								p.S580S(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTGGAGTGTCCCATCTCTGCC	0.657																																																2	Substitution - coding silent(2)	kidney(2)											47	53	51					X																	37028223		2202	4300	6502	SO:0001819	synonymous_variant	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1740C>A	X.37:g.37028223C>A			Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																				0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		A	37028223	C	A	37028223	2	1	208	1	0	0	0	0	0	0	0	1	5573	610	22	4		4	FAM47C	23	37028223	Silent	SNP	C	TCGA-B0-5691-01A-11D-1534-10	26847678	37028223	118242337	61	12666											
LPAR4	2846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	78011222	78011222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chrX:78011222G>T	ENST00000435339.3	+	2	1242	c.856G>T	c.(856-858)Gaa>Taa	p.E286*		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	286					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.E286*(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGCTTTTTGGAAAGATTTGC	0.418																																																1	Substitution - Nonsense(1)	kidney(1)											172	135	148					X																	78011222		2203	4300	6503	SO:0001587	stop_gained	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.856G>T	X.37:g.78011222G>T	ENSP00000408205:p.Glu286*		B2RAC7|O15132|Q502U9|Q6NSP5	Nonsense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	38	7.184785	0.98121	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	.	.	.	3.99	3.99	0.46301	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	13.9688	0.64225	0.0:0.0:1.0:0.0	.	.	.	.	X	286	.	ENSP00000362398:E286X	E	+	1	0	LPAR4	77897878	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.112000	0.94314	1.832000	0.53329	0.422000	0.28245	GAA		0.418	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		T	78011222	G	T	78011222	4	4	208	1	0	0	0	0	0	1	0	0	8909	1175	41	4	858	4	LPAR4	23	78011222	Nonsense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	40982999	78011222	77259338	62	12667											
NDUFA1	4694	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	119005937	119005937	+	Silent	SNP	G	G	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chrX:119005937G>A	ENST00000371437.4	+	1	488	c.63G>A	c.(61-63)ctG>ctA	p.L21L	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	21					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 membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.L21L(1)		endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						TTCCAGGACTGGCTACTGCGT	0.602																																																1	Substitution - coding silent(1)	kidney(1)											162	133	143					X																	119005937		2203	4300	6503	SO:0001819	synonymous_variant	4694				CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"Mitochondrial respiratory chain complex / Complex I"	7683	protein-coding gene	gene with protein product	"NADH:ubiquinone oxidoreductase (complex 1)", "type I dehydrogenase", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)", "complex I MWFE subunit"	300078	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.63G>A	X.37:g.119005937G>A				Silent	SNP	ENST00000371437.4	37	CCDS14590.1																																																																																				0.602	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058080.1	NM_004541		A	119005937	G	A	119005937	2	1	208	1	0	0	0	0	0	0	0	1	10261	1335	47	2		2	NDUFA1	23	119005937	Silent	SNP	G	TCGA-B0-5691-01A-11D-1534-10	40994715	119005937	36264623	63	12668											
CCDC160	347475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	133379666	133379666	+	Missense_Mutation	SNP	G	G	A	rs200917250		TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chrX:133379666G>A	ENST00000517294.1	+	3	1219	c.836G>A	c.(835-837)aGt>aAt	p.S279N	CCDC160_ENST00000370809.4_Missense_Mutation_p.S279N			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	279								p.S279I(1)|p.S279N(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GGAGAGCTCAGTGTCATCAAG	0.383																																																2	Substitution - Missense(2)	kidney(2)						G	ASN/SER	0,3103		0,0,0,1266,571	42	38	39		836	-1.7	0	X		39	1,6368		0,0,1,2296,1776	yes	missense	CCDC160	NM_001101357.1	46	0,0,1,3562,2347	AA,AG,A,GG,G		0.0157,0.0,0.0106	benign	279/326	133379666	1,9471	1837	4073	5910	SO:0001583	missense	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.836G>A	X.37:g.133379666G>A	ENSP00000427951:p.Ser279Asn			Missense_Mutation	SNP	ENST00000517294.1	37	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.244894	0.01481	0.0	1.57E-4	ENSG00000203952	ENST00000517294;ENST00000370809	D;D	0.90444	-2.67;-2.67	5.29	-1.73	0.08081	.	1.068870	0.07308	N	0.875388	T	0.74207	0.3686	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.59820	-0.7382	10	0.18710	T	0.47	-0.7691	4.9933	0.14226	0.4906:0.266:0.2434:0.0	.	279	A6NGH7	CC160_HUMAN	N	279	ENSP00000427951:S279N;ENSP00000359845:S279N	ENSP00000359845:S279N	S	+	2	0	CCDC160	133207332	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.618000	0.24373	-0.644000	0.05465	-1.427000	0.01099	AGT		0.383	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357		A	133379666	G	A	133379666	3	1	208	1	0	0	0	0	1	0	0	0	2794	1029	36	2	838	2	CCDC160	23	133379666	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	14373729	133379666	21890894	64	12669											
BRCC3	79184	broad.mit.edu	37	X	154344345	154344345	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5691-01A-11D-1534-10	TCGA-B0-5691-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac2e1d29-e239-4dab-9d81-77c8d45970eb	732d3bc7-b0c9-4999-9e3a-3f831f437d85	g.chrX:154344345G>A	ENST00000369462.1	+	9	662	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	BRCC3_ENST00000340647.4_Missense_Mutation_p.E189K|BRCC3_ENST00000330045.7_Missense_Mutation_p.E188K|BRCC3_ENST00000399042.1_Missense_Mutation_p.E213K|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	213					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E213K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGAGAGAATCGAAATCCCAAT	0.438																																																1	Substitution - Missense(1)	kidney(1)											90	76	80					X																	154344345		1937	4124	6061	SO:0001583	missense	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.637G>A	X.37:g.154344345G>A	ENSP00000358474:p.Glu213Lys		A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932228	0.73442	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369462;ENST00000411985;ENST00000399042	T;T;T;T;T	0.58210	0.61;0.64;0.36;0.75;0.35	4.68	4.68	0.58851	.	0.048580	0.85682	D	0.000000	T	0.55114	0.1900	M	0.78456	2.415	0.80722	D	1	B;B	0.26902	0.104;0.163	B;B	0.20384	0.029;0.013	T	0.59958	-0.7356	10	0.54805	T	0.06	-10.84	15.9187	0.79542	0.0:0.0:1.0:0.0	.	188;213	P46736-2;P46736	.;BRCC3_HUMAN	K	189;188;213;189;213	ENSP00000344103:E189K;ENSP00000328641:E188K;ENSP00000358474:E213K;ENSP00000413170:E189K;ENSP00000381998:E213K	ENSP00000328641:E188K	E	+	1	0	BRCC3	153997539	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	9.361000	0.97122	2.255000	0.74692	0.594000	0.82650	GAA		0.438	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		A	154344345	G	A	154344345	3	1	208	1	0	0	0	0	1	0	0	0	1502	1059	37	1	671	1	BRCC3	23	154344345	Missense_Mutation	SNP	G	TCGA-B0-5691-01A-11D-1534-10	20964679	154344345	926215	65	12670											
AADACL4	343066	broad.mit.edu	37	1	12726742	12726742	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:12726742T>C	ENST00000376221.1	+	4	1220	c.1220T>C	c.(1219-1221)aTa>aCa	p.I407T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	407						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.I407T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATAAAGGGCATATGATAGTAA	0.438																																																1	Substitution - Missense(1)	kidney(1)											53	58	56					1																	12726742		2116	4262	6378	SO:0001583	missense	343066				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1220T>C	1.37:g.12726742T>C	ENSP00000365395:p.Ile407Thr			Missense_Mutation	SNP	ENST00000376221.1	37	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284718	0.40394	.	.	ENSG00000204518	ENST00000376221	T	0.05199	3.48	4.53	3.37	0.38596	.	0.540943	0.17579	N	0.169198	T	0.11196	0.0273	L	0.57536	1.79	0.09310	N	1	P	0.47409	0.895	P	0.48488	0.579	T	0.08207	-1.0733	10	0.72032	D	0.01	-6.294	8.2541	0.31743	0.0:0.092:0.0:0.908	.	407	Q5VUY2	ADCL4_HUMAN	T	407	ENSP00000365395:I407T	ENSP00000365395:I407T	I	+	2	0	AADACL4	12649329	0.011000	0.17503	0.001000	0.08648	0.007000	0.05969	2.024000	0.41049	0.732000	0.32470	0.533000	0.62120	ATA		0.438	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		C	12726742	T	C	12726742	3	2	209	1	0	0	0	0	1	0	0	0	13	1406	49	3	1234	3	AADACL4	1	12726742	Missense_Mutation	SNP	T	TCGA-B0-5692-01A-11D-1534-10		12726742	236523879	1	12671											
ARID1A	8289	hgsc.bcm.edu;ucsc.edu	37	1	27057952	27057952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:27057952delC	ENST00000324856.7	+	3	2031	c.1660delC	c.(1660-1662)ccafs	p.P554fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P554fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P171fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	554					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTACTCACAGCCACAGGCTCA	0.652			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													165	173	170					1																	27057952		2203	4300	6503	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1660delC	1.37:g.27057952delC	ENSP00000320485:p.Pro554fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																				0.652	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		-	27057952	C	-	27057952	7	5	209	1	0	1	0	1	0	0	0	0	913	739	26	0	1670	0	ARID1A	1	27057952	Frame_Shift_Del	DEL	C	TCGA-B0-5692-01A-11D-1534-10	14331210	27057952	222192669	2	12672											
FAM76A	199870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28081734	28081734	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:28081734C>A	ENST00000373954.6	+	7	730	c.628C>A	c.(628-630)Cca>Aca	p.P210T	FAM76A_ENST00000234549.7_Missense_Mutation_p.P215T|FAM76A_ENST00000010299.6_Missense_Mutation_p.P244T|FAM76A_ENST00000419687.2_Missense_Mutation_p.P130T|FAM76A_ENST00000530324.1_Missense_Mutation_p.P210T|FAM76A_ENST00000373949.1_Missense_Mutation_p.P181T	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	210								p.P210T(1)		endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGACTCACCAGGCACTGA	0.413																																																1	Substitution - Missense(1)	kidney(1)											110	107	108					1																	28081734		2203	4300	6503	SO:0001583	missense	199870			AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.628C>A	1.37:g.28081734C>A	ENSP00000363065:p.Pro210Thr		B4DWT3|O95565|O95566|Q8N7J5	Missense_Mutation	SNP	ENST00000373954.6	37	CCDS309.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767445	0.31320	.	.	ENSG00000009780	ENST00000373954;ENST00000419687;ENST00000530324;ENST00000234549;ENST00000373949;ENST00000010299;ENST00000446647	T;T	0.30182	1.55;1.54	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000007	T	0.32734	0.0839	N	0.03608	-0.345	0.46701	D	0.999163	P;B;B;D;B;B	0.89917	0.844;0.036;0.043;1.0;0.078;0.078	P;B;B;D;B;B	0.87578	0.482;0.036;0.041;0.998;0.053;0.053	T	0.40683	-0.9550	10	0.22706	T	0.39	-12.0841	17.5641	0.87914	0.0:1.0:0.0:0.0	.	130;210;181;215;244;210	B4DWT3;E9PQL1;Q8TAV0-2;Q8TAV0-4;Q8TAV0-3;Q8TAV0	.;.;.;.;.;FA76A_HUMAN	T	210;130;210;215;181;244;23	ENSP00000234549:P215T;ENSP00000010299:P244T	ENSP00000010299:P244T	P	+	1	0	FAM76A	27954321	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	4.218000	0.58554	2.814000	0.96858	0.655000	0.94253	CCA		0.413	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3	NM_152660		A	28081734	C	A	28081734	3	1	209	1	0	0	0	0	1	0	0	0	5626	507	18	4	760	4	FAM76A	1	28081734	Missense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10	1023782	28081734	221168887	3	12673											
PTP4A2	8073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32377374	32377374	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:32377374C>T	ENST00000602725.1	-	3	660	c.243G>A	c.(241-243)tgG>tgA	p.W81*	RP11-84A19.4_ENST00000602889.1_lincRNA|AL136115.1_ENST00000391369.1_5'Flank|PTP4A2_ENST00000356536.3_Intron|PTP4A2_ENST00000457805.2_Nonsense_Mutation_p.W50*|PTP4A2_ENST00000344035.6_Nonsense_Mutation_p.W81*|PTP4A2_ENST00000470404.1_Intron			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	81	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)	p.W81*(1)		kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				ACAGGTTTAACCAATCATCTA	0.388																																																1	Substitution - Nonsense(1)	kidney(1)											97	88	91					1																	32377374		2203	4300	6503	SO:0001587	stop_gained	8073			L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.243G>A	1.37:g.32377374C>T	ENSP00000473259:p.Trp81*		A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Nonsense_Mutation	SNP	ENST00000602725.1	37	CCDS348.1	.	.	.	.	.	.	.	.	.	.	C	46	12.350044	0.99659	.	.	ENSG00000184007	ENST00000344035;ENST00000457805	.	.	.	4.99	4.99	0.66335	.	0.056069	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4981	18.2385	0.89958	0.0:1.0:0.0:0.0	.	.	.	.	X	81;50	.	ENSP00000344909:W81X	W	-	3	0	PTP4A2	32149961	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.772000	0.85439	2.489000	0.83994	0.655000	0.94253	TGG		0.388	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1	NM_080391		T	32377374	C	T	32377374	4	4	209	1	0	0	0	0	0	1	0	0	12777	508	18	2	272	2	PTP4A2	1	32377374	Nonsense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10	4295640	32377374	216873247	4	12674											
GJB4	127534	broad.mit.edu;hgsc.bcm.edu	37	1	35227533	35227533	+	Silent	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:35227533C>T	ENST00000339480.1	+	2	1048	c.678C>T	c.(676-678)tgC>tgT	p.C226C	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	226					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.C226C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCTCGGTGCCGGGAATGCC	0.622																																																1	Substitution - coding silent(1)	kidney(1)											56	52	53					1																	35227533		2203	4300	6503	SO:0001819	synonymous_variant	127534				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.678C>T	1.37:g.35227533C>T			B3KQ82	Silent	SNP	ENST00000339480.1	37	CCDS383.1																																																																																				0.622	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		T	35227533	C	T	35227533	2	4	209	1	0	0	0	0	0	0	0	1	6412	747	26	2		2	GJB4	1	35227533	Silent	SNP	C	TCGA-B0-5692-01A-11D-1534-10	2850159	35227533	214023088	5	12675											
GRIK3	2899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	37271904	37271904	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:37271904C>A	ENST00000373091.3	-	14	2131	c.2115G>T	c.(2113-2115)gaG>gaT	p.E705D	GRIK3_ENST00000373093.4_Missense_Mutation_p.E705D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	705					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.E705D(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCCACATCTTCTCGAAGGTGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											65	60	62					1																	37271904		2203	4300	6503	SO:0001583	missense	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2115G>T	1.37:g.37271904C>A	ENSP00000362183:p.Glu705Asp		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264680	0.40095	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11821	2.74;2.74	5.62	4.7	0.59300	Ionotropic glutamate receptor (2);	0.058725	0.64402	N	0.000003	T	0.11495	0.0280	L	0.39397	1.21	0.41610	D	0.988907	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.10382	-1.0632	10	0.27082	T	0.32	.	9.8158	0.40851	0.141:0.7815:0.0:0.0775	.	705;705	A9Z1Z8;Q13003	.;GRIK3_HUMAN	D	705	ENSP00000362183:E705D;ENSP00000362185:E705D	ENSP00000362183:E705D	E	-	3	2	GRIK3	37044491	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.035000	0.41155	1.363000	0.46019	0.549000	0.68633	GAG		0.602	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		A	37271904	C	A	37271904	3	1	209	1	0	0	0	0	1	0	0	0	6777	912	32	4	656	4	GRIK3	1	37271904	Missense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10	2044371	37271904	211978717	6	12676											
RLF	6018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40661376	40661376	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:40661376G>A	ENST00000372771.4	+	4	574	c.547G>A	c.(547-549)Gtg>Atg	p.V183M		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	183					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V183M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAAGGAAGGGGTGTGGAAAAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											85	85	85					1																	40661376		2203	4300	6503	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.547G>A	1.37:g.40661376G>A	ENSP00000361857:p.Val183Met		Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335752	0.41398	.	.	ENSG00000117000	ENST00000372771	T	0.18657	2.2	5.1	3.21	0.36854	.	0.237642	0.42420	N	0.000715	T	0.21227	0.0511	L	0.59436	1.845	0.29141	N	0.879002	B	0.10296	0.003	B	0.08055	0.003	T	0.14896	-1.0456	10	0.87932	D	0	-1.1574	9.7186	0.40289	0.2269:0.0:0.7731:0.0	.	183	Q13129	RLF_HUMAN	M	183	ENSP00000361857:V183M	ENSP00000361857:V183M	V	+	1	0	RLF	40433963	0.974000	0.33945	0.989000	0.46669	0.991000	0.79684	2.106000	0.41835	0.542000	0.28846	0.460000	0.39030	GTG		0.383	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		A	40661376	G	A	40661376	3	1	209	1	0	0	0	0	1	0	0	0	13395	1261	44	2	561	2	RLF	1	40661376	Missense_Mutation	SNP	G	TCGA-B0-5692-01A-11D-1534-10	3389472	40661376	208589245	7	12677											
COL11A1	1301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	103355037	103355037	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:103355037C>T	ENST00000370096.3	-	59	4750	c.4438G>A	c.(4438-4440)Gga>Aga	p.G1480R	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1441R|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1492R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1364R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1480	Collagen-like 7.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1480R(1)|p.G1492R(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGAGATCCTTGAGTTCCA	0.453																																																2	Substitution - Missense(2)	kidney(2)											84	82	83					1																	103355037		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4438G>A	1.37:g.103355037C>T	ENSP00000359114:p.Gly1480Arg		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965354	0.74131	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.96766	0.9565	10	0.87932	D	0	.	19.3074	0.94169	0.0:1.0:0.0:0.0	.	1364;1441;1492;1480;700	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1480;1492;1441;700;1364	ENSP00000359114:G1480R;ENSP00000351163:G1492R;ENSP00000302551:G1441R;ENSP00000426533:G1364R	ENSP00000302551:G1441R	G	-	1	0	COL11A1	103127625	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	7.818000	0.86416	2.560000	0.86352	0.563000	0.77884	GGA		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103355037	C	T	103355037	3	4	209	1	0	0	0	0	1	0	0	0	3669	690	24	2	1018	2	COL11A1	1	103355037	Missense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10	62693661	103355037	145895584	8	12678											
MNDA	4332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158812131	158812131	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:158812131A>G	ENST00000368141.4	+	2	449	c.188A>G	c.(187-189)gAc>gGc	p.D63G	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	63	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D63G(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCCTGTCTAGACAAACTAATA	0.343																																																1	Substitution - Missense(1)	kidney(1)											110	118	115					1																	158812131		2202	4300	6502	SO:0001583	missense	4332			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.188A>G	1.37:g.158812131A>G	ENSP00000357123:p.Asp63Gly			Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.525795	0.00959	.	.	ENSG00000163563	ENST00000368141	T	0.51071	0.72	3.35	-2.14	0.07123	Pyrin (2);	.	.	.	.	T	0.08758	0.0217	N	0.25957	0.775	0.09310	N	1	B	0.15930	0.015	B	0.20184	0.028	T	0.39522	-0.9610	9	0.02654	T	1	0.0144	7.4098	0.27011	0.5236:0.0:0.4764:0.0	.	63	P41218	MNDA_HUMAN	G	63	ENSP00000357123:D63G	ENSP00000357123:D63G	D	+	2	0	MNDA	157078755	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.689000	0.05144	-0.607000	0.05738	-0.385000	0.06624	GAC		0.343	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		G	158812131	A	G	158812131	3	3	209	1	0	0	0	0	1	0	0	0	9678	275	10	3	190	3	MNDA	1	158812131	Missense_Mutation	SNP	A	TCGA-B0-5692-01A-11D-1534-10	55457094	158812131	90438490	9	12679											
ARHGAP25	9938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	69034592	69034592	+	Silent	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr2:69034592G>A	ENST00000295381.3	+	5	1070	c.651G>A	c.(649-651)ggG>ggA	p.G217G	ARHGAP25_ENST00000409202.3_Silent_p.G218G|ARHGAP25_ENST00000409030.3_Silent_p.G210G|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Silent_p.G178G|ARHGAP25_ENST00000544262.1_Silent_p.G192G|ARHGAP25_ENST00000409220.1_Silent_p.G211G|ARHGAP25_ENST00000497079.1_Silent_p.G211G	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	217	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.G211G(1)|p.A210fs*4(1)|p.G218G(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TTGATGCTGGGGAGCGGCCCT	0.607																																																3	Substitution - coding silent(2)|Deletion - Frameshift(1)	kidney(2)|breast(1)											108	102	104					2																	69034592		2203	4300	6503	SO:0001819	synonymous_variant	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.651G>A	2.37:g.69034592G>A			A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	G	10.44	1.349575	0.24426	.	.	ENSG00000163219	ENST00000497259	T	0.50813	0.73	4.78	2.92	0.33932	.	0.101709	0.64402	D	0.000002	T	0.52058	0.1711	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51458	-0.8703	7	0.87932	D	0	.	6.2597	0.20893	0.1643:0.1527:0.6829:0.0	.	.	.	.	E	77	ENSP00000417818:G77E	ENSP00000417818:G77E	G	+	2	0	ARHGAP25	68888096	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.360000	0.34125	0.587000	0.29643	0.555000	0.69702	GGG		0.607	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		A	69034592	G	A	69034592	2	1	209	1	0	0	0	0	0	0	0	1	874	1219	43	2		2	ARHGAP25	2	69034592	Silent	SNP	G	TCGA-B0-5692-01A-11D-1534-10		69034592	174164781	10	12680											
RETSAT	54884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	85578126	85578126	+	Missense_Mutation	SNP	C	C	A	rs370464576		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr2:85578126C>A	ENST00000295802.4	-	3	486	c.374G>T	c.(373-375)cGt>cTt	p.R125L	RETSAT_ENST00000263854.6_Missense_Mutation_p.R125L|RETSAT_ENST00000457495.2_Missense_Mutation_p.R64L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	125					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.R125L(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCTTCCATACGCCCAATGTA	0.512																																																1	Substitution - Missense(1)	kidney(1)											66	67	67					2																	85578126		2203	4300	6503	SO:0001583	missense	54884			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.374G>T	2.37:g.85578126C>A	ENSP00000295802:p.Arg125Leu		A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.866973|1.866973	0.32977|0.32977	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495|ENST00000409984	T;T;T|.	0.57436|.	0.4;0.4;1.95|.	6.02|6.02	-2.34|-2.34	0.06704|0.06704	.|.	0.963511|.	0.08664|.	N|.	0.912008|.	T|T	0.13415|0.13415	0.0325|0.0325	N|N	0.03983|0.03983	-0.305|-0.305	0.09310|0.09310	N|N	1|1	B;B|.	0.27559|.	0.025;0.181|.	B;B|.	0.37780|.	0.068;0.258|.	T|T	0.31998|0.31998	-0.9923|-0.9923	9|5	.|.	.|.	.|.	0.2771|0.2771	7.7762|7.7762	0.29039|0.29039	0.0:0.339:0.1158:0.5451|0.0:0.339:0.1158:0.5451	.|.	64;125|.	G5E9N3;Q6NUM9|.	.;RETST_HUMAN|.	L|L	125;125;64|64	ENSP00000295802:R125L;ENSP00000263854:R125L;ENSP00000405040:R64L|.	.|.	R|V	-|-	2|1	0|0	RETSAT|RETSAT	85431637|85431637	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.468000|0.468000	0.32798|0.32798	0.156000|0.156000	0.16382|0.16382	-0.341000|-0.341000	0.08376|0.08376	-0.136000|-0.136000	0.14681|0.14681	CGT|GTA		0.512	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		A	85578126	C	A	85578126	3	1	209	1	0	0	0	0	1	0	0	0	13244	536	19	4	1494	4	RETSAT	2	85578126	Missense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10	16543534	85578126	157621247	11	12681											
ITGB6	3694	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160994692	160994692	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr2:160994692C>G	ENST00000283249.2	-	9	1363	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	ITGB6_ENST00000409872.1_Missense_Mutation_p.E376Q|ITGB6_ENST00000409967.2_Missense_Mutation_p.E376Q|ITGB6_ENST00000428609.2_Missense_Mutation_p.E334Q	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	376					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.E376Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACTTCCAGTTCCACCTCAGAC	0.413																																																1	Substitution - Missense(1)	kidney(1)											198	171	180					2																	160994692		2203	4300	6503	SO:0001583	missense	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1126G>C	2.37:g.160994692C>G	ENSP00000283249:p.Glu376Gln		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377515	0.82682	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.54	5.54	0.83059	Integrin beta subunit, N-terminal (2);	0.054204	0.64402	D	0.000001	T	0.74152	0.3679	L	0.52266	1.64	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.64776	0.929;0.929	T	0.70238	-0.4927	10	0.35671	T	0.21	.	19.8568	0.96762	0.0:1.0:0.0:0.0	.	334;376	E9PEE8;P18564	.;ITB6_HUMAN	Q	376;334;376;376	ENSP00000283249:E376Q;ENSP00000408024:E334Q;ENSP00000386828:E376Q;ENSP00000386367:E376Q	ENSP00000283249:E376Q	E	-	1	0	ITGB6	160702938	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.819000	0.69243	2.764000	0.94973	0.650000	0.86243	GAA		0.413	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		G	160994692	C	G	160994692	3	3	209	1	0	0	0	0	1	0	0	0	7901	864	30	4	1268	4	ITGB6	2	160994692	Missense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10	75416566	160994692	82204681	12	12682											
MYO1B	4430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	192228923	192228923	+	Nonsense_Mutation	SNP	C	C	A	rs200920355		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr2:192228923C>A	ENST00000392318.3	+	11	1200	c.953C>A	c.(952-954)tCa>tAa	p.S318*	MYO1B_ENST00000339514.4_Nonsense_Mutation_p.S318*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.S318*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.S318*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	318	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S318*(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ATTGATCAATCAGTTCTAGAA	0.413																																																2	Substitution - Nonsense(2)	kidney(2)											123	116	119					2																	192228923		2203	4300	6503	SO:0001587	stop_gained	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.953C>A	2.37:g.192228923C>A	ENSP00000376132:p.Ser318*		O43794|Q7Z6L5	Nonsense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293741	0.95546	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.62	4.73	0.59995	.	0.127094	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.876	0.70493	0.0:0.8518:0.1482:0.0	.	.	.	.	X	318	.	ENSP00000306382:S318X	S	+	2	0	MYO1B	191937168	0.996000	0.38824	0.974000	0.42286	0.944000	0.59088	3.356000	0.52269	1.472000	0.48140	0.650000	0.86243	TCA		0.413	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		A	192228923	C	A	192228923	4	1	209	1	0	0	0	0	0	1	0	0	10071	838	29	4	991	4	MYO1B	2	192228923	Nonsense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10	31234231	192228923	50970450	13	12683											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191528	10191529	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr3:10191528_10191529insTT	ENST00000256474.2	+	3	1361_1362	c.521_522insTT	c.(520-525)aattacfs	p.Y175fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.Y134fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	175			Y -> D (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P172fs*39(2)|p.N174fs*41(1)|p.E173_R176del(1)|p.Y175fs*41(1)|p.Y175fs*28(1)|p.E173fs*26(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AAGCCTGAGAATTACAGGAGAC	0.53		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Deletion - Frameshift(3)|Insertion - Frameshift(3)|Deletion - In frame(1)	kidney(7)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.522_523dupTT	3.37:g.10191529_10191530dupTT	ENSP00000256474:p.Tyr175fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.53	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		TT	10191529	-	TT	10191528	7	5	209	1	0	1	1	0	0	0	0	0	17167	101	4	0	531	0	VHL	3	10191528	Frame_Shift_Ins	INS	-	TCGA-B0-5692-01A-11D-1534-10		10191528	187830902	14	12684											
ZMYND10	51364	broad.mit.edu;hgsc.bcm.edu	37	3	50378855	50378855	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr3:50378855C>A	ENST00000231749.3	-	12	2581	c.1309G>T	c.(1309-1311)Gac>Tac	p.D437Y	ZMYND10_ENST00000360165.3_Missense_Mutation_p.D432Y|RASSF1_ENST00000488024.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'UTR|RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000357043.2_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	437	Interaction with LRRC6.				inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.D437Y(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTGGCTCTGTCACCCTGGGCT	0.577										TSP Lung(30;0.18)																																						1	Substitution - Missense(1)	kidney(1)											115	105	108					3																	50378855		2203	4300	6503	SO:0001583	missense	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.1309G>T	3.37:g.50378855C>A	ENSP00000231749:p.Asp437Tyr		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439379	0.43326	.	.	ENSG00000004838	ENST00000231749;ENST00000360165	.	.	.	4.85	3.06	0.35304	.	0.996520	0.08144	N	0.991182	T	0.52306	0.1726	L	0.58101	1.795	0.32151	N	0.584181	B;B	0.27791	0.189;0.119	B;B	0.36335	0.222;0.032	T	0.58713	-0.7588	9	0.66056	D	0.02	-10.2246	5.3723	0.16146	0.0:0.6533:0.1655:0.1812	.	432;437	O75800-2;O75800	.;ZMY10_HUMAN	Y	437;432	.	ENSP00000231749:D437Y	D	-	1	0	ZMYND10	50353859	0.154000	0.22792	0.989000	0.46669	0.963000	0.63663	1.062000	0.30555	0.768000	0.33290	0.643000	0.83706	GAC		0.577	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		A	50378855	C	A	50378855	3	1	209	1	0	0	0	0	1	0	0	0	17710	826	29	4	17	4	ZMYND10	3	50378855	Missense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10	40187327	50378855	147643575	15	12685											
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85674870	85674870	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr4:85674870T>C	ENST00000295888.4	-	35	6126	c.5719A>G	c.(5719-5721)Att>Gtt	p.I1907V	WDFY3_ENST00000322366.6_Missense_Mutation_p.I1907V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1907					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.I1907V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAAGGGCGAATATTGAAGGGG	0.458																																																1	Substitution - Missense(1)	kidney(1)											96	86	89					4																	85674870		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5719A>G	4.37:g.85674870T>C	ENSP00000295888:p.Ile1907Val		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	8.295	0.818621	0.16607	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63096	-0.02;-0.02	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	L	0.29908	0.895	0.58432	D	0.999999	B	0.18968	0.032	B	0.12156	0.007	T	0.46359	-0.9197	10	0.10636	T	0.68	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1907	Q8IZQ1	WDFY3_HUMAN	V	1907	ENSP00000318466:I1907V;ENSP00000295888:I1907V	ENSP00000295888:I1907V	I	-	1	0	WDFY3	85893894	1.000000	0.71417	0.954000	0.39281	0.982000	0.71751	4.015000	0.57152	2.308000	0.77769	0.533000	0.62120	ATT		0.458	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		C	85674870	T	C	85674870	3	2	209	1	0	0	0	0	1	0	0	0	17275	1406	49	3	4997	3	WDFY3	4	85674870	Missense_Mutation	SNP	T	TCGA-B0-5692-01A-11D-1534-10		85674870	105479406	16	12686											
LARP1B	55132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	129128464	129128464	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr4:129128464A>G	ENST00000326639.6	+	19	2684	c.2473A>G	c.(2473-2475)Aag>Gag	p.K825E	LARP1B_ENST00000441387.1_Silent_p.*788*|LARP1B_ENST00000354456.3_Missense_Mutation_p.K244E|LARP1B_ENST00000264584.5_Missense_Mutation_p.K766E|LARP1B_ENST00000506199.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	825						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K825E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTCTCAATCTAAGACACAGTC	0.299																																																1	Substitution - Missense(1)	kidney(1)											51	55	54					4																	129128464		2202	4292	6494	SO:0001583	missense	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2473A>G	4.37:g.129128464A>G	ENSP00000321997:p.Lys825Glu		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756084	0.31137	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000354456	T;T;T	0.03689	3.84;3.84;3.84	4.32	3.14	0.36123	.	0.164278	0.52532	N	0.000065	T	0.13586	0.0329	M	0.71871	2.18	0.31857	N	0.621464	D;B;D	0.76494	0.998;0.081;0.999	D;B;D	0.74674	0.941;0.012;0.984	T	0.02581	-1.1138	10	0.44086	T	0.13	.	9.7372	0.40395	0.9178:0.0:0.0822:0.0	.	35;244;825	Q659C4-8;Q659C4-5;Q659C4	.;.;LAR1B_HUMAN	E	825;766;244	ENSP00000321997:K825E;ENSP00000264584:K766E;ENSP00000346444:K244E	ENSP00000264584:K766E	K	+	1	0	LARP1B	129347914	1.000000	0.71417	0.833000	0.33012	0.093000	0.18481	6.927000	0.75840	0.688000	0.31529	0.459000	0.35465	AAG		0.299	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		G	129128464	A	G	129128464	3	3	209	1	0	0	0	0	1	0	0	0	8631	363	13	3	2673	3	LARP1B	4	129128464	Missense_Mutation	SNP	A	TCGA-B0-5692-01A-11D-1534-10	43453594	129128464	62025812	17	12687											
NEK1	4750	hgsc.bcm.edu;ucsc.edu	37	4	170321451	170321451	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr4:170321451delT	ENST00000439128.2	-	33	4328	c.3688delA	c.(3688-3690)attfs	p.I1230fs	NEK1_ENST00000510533.1_Frame_Shift_Del_p.I1186fs|NEK1_ENST00000511633.1_Frame_Shift_Del_p.I1214fs|NEK1_ENST00000512193.1_Frame_Shift_Del_p.I1161fs|NEK1_ENST00000507142.1_Frame_Shift_Del_p.I1258fs	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1230					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTTCCCAAAATATTTTGAACT	0.299																																																0													41	37	38					4																	170321451		1799	4051	5850	SO:0001589	frameshift_variant	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3688delA	4.37:g.170321451delT	ENSP00000408020:p.Ile1230fs		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Frame_Shift_Del	DEL	ENST00000439128.2	37	CCDS47162.1																																																																																				0.299	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			-	170321451	T	-	170321451	7	5	209	1	0	1	0	1	0	0	0	0	10323	1406	49	0	96	0	NEK1	4	170321451	Frame_Shift_Del	DEL	T	TCGA-B0-5692-01A-11D-1534-10	41192987	170321451	20832825	18	12688											
AMACR	23600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33989521	33989521	+	Missense_Mutation	SNP	C	C	T	rs200687238		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr5:33989521C>T	ENST00000335606.6	-	5	914	c.826G>A	c.(826-828)Gca>Aca	p.A276T	AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.A276T|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.A261T	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	276					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)	p.A276T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GTCTTCTCTGCAAATACATCT	0.438																																																1	Substitution - Missense(1)	kidney(1)											78	74	75					5																	33989521		2203	4300	6503	SO:0001583	missense	23600			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.826G>A	5.37:g.33989521C>T	ENSP00000334424:p.Ala276Thr		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755064	0.49362	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.56275	0.47;0.47;0.47	5.7	4.77	0.60923	CoA-transferase family III domain (2);	0.102151	0.64402	D	0.000002	T	0.59266	0.2181	M	0.89601	3.045	0.80722	D	1	P;P;B	0.37548	0.534;0.599;0.399	B;B;B	0.38842	0.283;0.197;0.104	T	0.62497	-0.6842	10	0.36615	T	0.2	-21.0528	10.4745	0.44657	0.2329:0.6437:0.1234:0.0	.	276;261;276	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	T	276;276;261	ENSP00000334424:A276T;ENSP00000371517:A276T;ENSP00000424351:A261T	ENSP00000334424:A276T	A	-	1	0	AMACR	34025278	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.264000	0.43302	2.848000	0.98002	0.637000	0.83480	GCA		0.438	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		T	33989521	C	T	33989521	3	4	209	1	0	0	0	0	1	0	0	0	562	710	25	2	384	2	AMACR	5	33989521	Missense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10		33989521	146925739	19	12689											
DAB2	1601	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	39376876	39376876	+	Silent	SNP	T	T	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr5:39376876T>A	ENST00000320816.6	-	12	2480	c.2013A>T	c.(2011-2013)ggA>ggT	p.G671G	DAB2_ENST00000509337.1_Silent_p.G650G|DAB2_ENST00000339788.6_Silent_p.G453G|DAB2_ENST00000545653.1_Silent_p.G650G	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	671	Required for interaction with GRB2 and CSK. {ECO:0000250}.|Required for interaction with MYO6. {ECO:0000250}.|Sufficient for interaction with GRB2. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.G671G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAGTCTGCTCTCCCTTCCGCG	0.493											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											64	64	64					5																	39376876		2203	4300	6503	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.2013A>T	5.37:g.39376876T>A		885	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.493	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		A	39376876	T	A	39376876	2	1	209	1	0	0	0	0	0	0	0	1	4220	1538	54	5		5	DAB2	5	39376876	Silent	SNP	T	TCGA-B0-5692-01A-11D-1534-10	5387355	39376876	141538384	20	12690											
ACSL6	23305	hgsc.bcm.edu;ucsc.edu	37	5	131321125	131321125	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr5:131321125delA	ENST00000379240.1	-	9	969	c.816delT	c.(814-816)attfs	p.I272fs	ACSL6_ENST00000431707.1_Frame_Shift_Del_p.I252fs|ACSL6_ENST00000379264.2_Frame_Shift_Del_p.I297fs|ACSL6_ENST00000379246.1_Frame_Shift_Del_p.I283fs|ACSL6_ENST00000379244.1_Frame_Shift_Del_p.I272fs|ACSL6_ENST00000357096.1_Frame_Shift_Del_p.I237fs|ACSL6_ENST00000296869.4_Frame_Shift_Del_p.I297fs|ACSL6_ENST00000543479.1_Frame_Shift_Del_p.I272fs|ACSL6_ENST00000379272.2_Frame_Shift_Del_p.I287fs|ACSL6_ENST00000379255.1_Frame_Shift_Del_p.I237fs|ACSL6_ENST00000544770.1_Frame_Shift_Del_p.I181fs|ACSL6_ENST00000379249.3_Frame_Shift_Del_p.I272fs			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	272					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAAACACACAATGGAGAGGT	0.627																																																0													124	98	106					5																	131321125		2203	4300	6503	SO:0001589	frameshift_variant	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.816delT	5.37:g.131321125delA	ENSP00000368542:p.Ile272fs		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Frame_Shift_Del	DEL	ENST00000379240.1	37																																																																																					0.627	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		-	131321125	A	-	131321125	7	5	209	1	0	1	0	1	0	0	0	0	181	126	5	0	1411	0	ACSL6	5	131321125	Frame_Shift_Del	DEL	A	TCGA-B0-5692-01A-11D-1534-10	91944249	131321125	49594135	21	12691											
PSD2	84249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139217290	139217290	+	Silent	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr5:139217290G>A	ENST00000274710.3	+	12	1951	c.1746G>A	c.(1744-1746)agG>agA	p.R582R		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	582	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.R582R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCACCAGGGCCTCTGACT	0.587																																																1	Substitution - coding silent(1)	kidney(1)											93	76	82					5																	139217290		2203	4300	6503	SO:0001819	synonymous_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1746G>A	5.37:g.139217290G>A			D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	CCDS4216.1																																																																																				0.587	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		A	139217290	G	A	139217290	2	1	209	1	0	0	0	0	0	0	0	1	12652	1223	43	2		2	PSD2	5	139217290	Silent	SNP	G	TCGA-B0-5692-01A-11D-1534-10	7896165	139217290	41697970	22	12692											
C6orf146	222826	hgsc.bcm.edu;ucsc.edu	37	6	4069047	4069058	+	In_Frame_Del	DEL	CTTTTTGGTCCC	CTTTTTGGTCCC	-	rs148412142	byFrequency	TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	CTTTTTGGTCCC	CTTTTTGGTCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:4069047_4069058delCTTTTTGGTCCC	ENST00000274673.3	-	7	1802_1813	c.1399_1410delGGGACCAAAAAG	c.(1399-1410)gggaccaaaaagdel	p.GTKK467del	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	467																	GGTAAAGTTTCTTTTTGGTCCCAAAGTTTCTC	0.41																																																0																																										SO:0001651	inframe_deletion	0			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.1399_1410delGGGACCAAAAAG	6.37:g.4069047_4069058delCTTTTTGGTCCC	ENSP00000274673:p.Gly467_Lys470del		Q5JYK1	In_Frame_Del	DEL	ENST00000274673.3	37	CCDS4489.1																																																																																				0.41	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		-	4069058	CTTTTTGGTCCC	-	4069047	7	5	209	1	0	1	0	1	0	0	0	0	2337	912	32	0	120	0	C6orf146	6	4069047	In_Frame_Del	DEL	CTTTTTGGTCCC	TCGA-B0-5692-01A-11D-1534-10		4069047	167046020	23	12693											
CAP2	10486	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	17556592	17556592	+	Silent	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:17556592A>G	ENST00000229922.2	+	13	1885	c.1353A>G	c.(1351-1353)agA>agG	p.R451R	CAP2_ENST00000489374.1_Silent_p.R339R|CAP2_ENST00000493172.1_Silent_p.R191R|CAP2_ENST00000465994.1_Silent_p.R387R|CAP2_ENST00000378990.2_Silent_p.R425R	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	451	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.R451R(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TTTTCCAGAGAGAATTTCCCA	0.403																																																1	Substitution - coding silent(1)	kidney(1)											123	113	117					6																	17556592		2203	4300	6503	SO:0001819	synonymous_variant	10486			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.1353A>G	6.37:g.17556592A>G			B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	ENST00000229922.2	37	CCDS4539.1																																																																																				0.403	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			G	17556592	A	G	17556592	2	3	209	1	0	0	0	0	0	0	0	1	2622	301	11	3		3	CAP2	6	17556592	Silent	SNP	A	TCGA-B0-5692-01A-11D-1534-10	13487545	17556592	153558475	24	12694											
SCUBE3	222663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35212548	35212548	+	Silent	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:35212548C>T	ENST00000274938.7	+	18	2361	c.2361C>T	c.(2359-2361)agC>agT	p.S787S	SCUBE3_ENST00000394681.1_Silent_p.S803S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.S787S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GAAACACAAGCACAGACTTTG	0.562																																																1	Substitution - coding silent(1)	kidney(1)											143	136	139					6																	35212548		2203	4300	6503	SO:0001819	synonymous_variant	222663			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2361C>T	6.37:g.35212548C>T				Silent	SNP	ENST00000274938.7	37	CCDS4800.1																																																																																				0.562	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		T	35212548	C	T	35212548	2	4	209	1	0	0	0	0	0	0	0	1	13952	709	25	2		2	SCUBE3	6	35212548	Silent	SNP	C	TCGA-B0-5692-01A-11D-1534-10	17655956	35212548	135902519	25	12695											
GSTA3	2940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	52764776	52764776	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:52764776T>G	ENST00000211122.3	-	5	435	c.370A>C	c.(370-372)Atc>Ctc	p.I124L	GSTA3_ENST00000370968.1_Missense_Mutation_p.I74L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	124	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.I124L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTCTCTTTGATCAAGGCAATC	0.403																																																1	Substitution - Missense(1)	kidney(1)											235	217	223					6																	52764776		2203	4300	6503	SO:0001583	missense	2940			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"Glutathione S-transferases / Soluble"	4628	protein-coding gene	gene with protein product		605449	"glutathione S-transferase A3"			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.370A>C	6.37:g.52764776T>G	ENSP00000211122:p.Ile124Leu		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.734880	0.48939	.	.	ENSG00000174156	ENST00000370968;ENST00000211122;ENST00000431899	T;T;T	0.06218	4.47;4.47;3.33	3.91	1.46	0.22682	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.02929	0.0087	M	0.67569	2.06	0.21220	N	0.999756	B	0.09022	0.002	B	0.25405	0.06	T	0.36407	-0.9749	10	0.56958	D	0.05	.	7.5267	0.27660	0.0:0.1919:0.0:0.8081	.	124	Q16772	GSTA3_HUMAN	L	74;124;74	ENSP00000360007:I74L;ENSP00000211122:I124L;ENSP00000399142:I74L	ENSP00000211122:I124L	I	-	1	0	GSTA3	52872735	0.716000	0.27956	0.004000	0.12327	0.663000	0.39108	1.999000	0.40806	0.195000	0.20347	0.482000	0.46254	ATC		0.403	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			G	52764776	T	G	52764776	3	3	209	1	0	0	0	0	1	0	0	0	6834	1435	50	5	310	5	GSTA3	6	52764776	Missense_Mutation	SNP	T	TCGA-B0-5692-01A-11D-1534-10	17552228	52764776	118350291	26	12696											
TRAF3IP2	10758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	111912795	111912796	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:111912795_111912796insT	ENST00000340026.6	-	3	1115_1116	c.521_522insA	c.(520-522)aatfs	p.N174fs	TRAF3IP2_ENST00000368761.5_Frame_Shift_Ins_p.N165fs|TRAF3IP2_ENST00000392556.4_De_novo_Start_OutOfFrame|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N165fs			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	174	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTGCTGAGGCATTAGGTAAACT	0.525																																																0																																										SO:0001589	frameshift_variant	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.522dupA	6.37:g.111912797_111912797dupT	ENSP00000345984:p.Asn174fs		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Frame_Shift_Ins	INS	ENST00000340026.6	37																																																																																					0.525	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			T	111912796	-	T	111912795	7	5	209	1	0	1	1	0	0	0	0	0	16446	214	8	0	1234	0	TRAF3IP2	6	111912795	Frame_Shift_Ins	INS	-	TCGA-B0-5692-01A-11D-1534-10	59148019	111912795	59202272	27	12697											
ABCB5	340273	hgsc.bcm.edu;ucsc.edu	37	7	20685684	20685684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr7:20685684delT	ENST00000404938.2	+	9	1556	c.904delT	c.(904-906)tatfs	p.Y302fs	ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000406935.1_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	302	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAATGGAACCTATGGACTTGC	0.393																																																0													129	115	119					7																	20685684		1568	3582	5150	SO:0001589	frameshift_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.904delT	7.37:g.20685684delT	ENSP00000384881:p.Tyr302fs		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Frame_Shift_Del	DEL	ENST00000404938.2	37	CCDS55090.1																																																																																				0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		-	20685684	T	-	20685684	7	5	209	1	0	1	0	1	0	0	0	0	44	1522	53	0	934	0	ABCB5	7	20685684	Frame_Shift_Del	DEL	T	TCGA-B0-5692-01A-11D-1534-10		20685684	138452979	28	12698	94	2									
ABCB5	340273	hgsc.bcm.edu	37	7	20685686	20685686	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr7:20685686T>A	ENST00000404938.2	+	9	1558	c.906T>A	c.(904-906)taT>taA	p.Y302*	ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000406935.1_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	302	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATGGAACCTATGGACTTGCTT	0.393																																																0													129	115	120					7																	20685686		1568	3582	5150	SO:0001587	stop_gained	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.906T>A	7.37:g.20685686T>A	ENSP00000384881:p.Tyr302*		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	T	42	9.616280	0.99220	.	.	ENSG00000004846	ENST00000404938	.	.	.	4.79	-5.28	0.02755	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3713	0.60715	0.0:0.5567:0.0:0.4433	.	.	.	.	X	302	.	ENSP00000384881:Y302X	Y	+	3	2	ABCB5	20652211	0.286000	0.24305	0.925000	0.36789	0.928000	0.56348	-0.607000	0.05648	-1.011000	0.03391	-0.982000	0.02568	TAT		0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20685686	T	A	20685686	4	1	209	1	0	0	0	0	0	1	0	0	44	1471	51	5	936	5	ABCB5	7	20685686	Nonsense_Mutation	SNP	T	TCGA-B0-5692-01A-11D-1534-10	2	20685686	138452977	29	12699	94	2									
CRHR2	1395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	30701795	30701795	+	Silent	SNP	G	G	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr7:30701795G>T	ENST00000471646.1	-	7	1152	c.735C>A	c.(733-735)ggC>ggA	p.G245G	CRHR2_ENST00000506074.2_Silent_p.G245G|CRHR2_ENST00000348438.4_Silent_p.G272G|CRHR2_ENST00000341843.4_Silent_p.G231G	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	245					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.G245G(1)|p.G231G(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTAGAGCTTGCCGATGGCCC	0.562																																																2	Substitution - coding silent(2)	kidney(2)											117	110	112					7																	30701795		2203	4300	6503	SO:0001819	synonymous_variant	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.735C>A	7.37:g.30701795G>T			B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	CCDS5429.1																																																																																				0.562	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			T	30701795	G	T	30701795	2	4	209	1	0	0	0	0	0	0	0	1	3874	1306	46	4		4	CRHR2	7	30701795	Silent	SNP	G	TCGA-B0-5692-01A-11D-1534-10	10016109	30701795	128436868	30	12700											
PRSS2	154754	broad.mit.edu;ucsc.edu	37	7	142481278	142481278	+	RNA	SNP	G	G	T	rs201787957		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr7:142481278G>T	ENST00000603901.1	+	0	352					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V118F(1)									CACACCTGCCGTCATCAATGC	0.542																																																1	Substitution - Missense(1)	kidney(1)											209	145	165					7																	142481278		684	1482	2166			0					7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481278G>T				Missense_Mutation	SNP	ENST00000603901.1	37																																																																																					0.542	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		T	142481278	G	T	142481278	1	4	209	0	1	0	0	0	0	0	0	0	12622	1145	40	4		4	PRSS2	7	142481278	RNA	SNP	G	TCGA-B0-5692-01A-11D-1534-10	111779483	142481278	16657385	31	12701											
SSPO	23145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	149485496	149485496	+	RNA	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr7:149485496G>A	ENST00000378016.2	+	0	3902							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCCCGGGTGGCACTGCCAG	0.662																																																0													32	41	38					7																	149485496		2109	4204	6313			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149485496G>A			Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																					0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149485496	G	A	149485496	1	1	209	0	1	0	0	0	0	0	0	0	15194	1357	47	2		2	SSPO	7	149485496	RNA	SNP	G	TCGA-B0-5692-01A-11D-1534-10	7004218	149485496	9653167	32	12702											
MYOM2	9172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	2005831	2005831	+	Missense_Mutation	SNP	G	G	A	rs200247570		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr8:2005831G>A	ENST00000262113.4	+	5	634	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	165	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.V165I(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATCCCACACCGTCTGGGAGAG	0.597																																																1	Substitution - Missense(1)	kidney(1)											87	78	81					8																	2005831		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.493G>A	8.37:g.2005831G>A	ENSP00000262113:p.Val165Ile		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079125	0.55753	.	.	ENSG00000036448	ENST00000262113	T	0.70282	-0.47	4.86	3.02	0.34903	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.074852	0.53938	N	0.000060	T	0.69088	0.3072	M	0.68593	2.085	0.80722	D	1	B	0.32302	0.363	B	0.38458	0.274	T	0.64296	-0.6441	10	0.40728	T	0.16	.	10.2369	0.43288	0.1679:0.0:0.8321:0.0	.	165	P54296	MYOM2_HUMAN	I	165	ENSP00000262113:V165I	ENSP00000262113:V165I	V	+	1	0	MYOM2	1993238	1.000000	0.71417	0.969000	0.41365	0.989000	0.77384	3.613000	0.54152	0.432000	0.26286	0.561000	0.74099	GTC		0.597	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2005831	G	A	2005831	3	1	209	1	0	0	0	0	1	0	0	0	10094	1145	40	1	507	1	MYOM2	8	2005831	Missense_Mutation	SNP	G	TCGA-B0-5692-01A-11D-1534-10		2005831	144358191	33	12703											
C8orf79	57604	hgsc.bcm.edu;ucsc.edu	37	8	12870213	12870216	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	CTTA	CTTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr8:12870213_12870216delCTTA	ENST00000524591.2	+	4	664_667	c.175_178delCTTA	c.(175-180)cttaaafs	p.LK59fs	KIAA1456_ENST00000447063.2_Frame_Shift_Del_p.LK59fs	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	59							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGGAAAATATCTTAAAGTGAACAG	0.422																																																0																																										SO:0001589	frameshift_variant	0			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.175_178delCTTA	8.37:g.12870213_12870216delCTTA	ENSP00000432695:p.Leu59fs		Q96AW6	Frame_Shift_Del	DEL	ENST00000524591.2	37	CCDS47808.1																																																																																				0.422	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		-	12870216	CTTA	-	12870213	7	5	209	1	0	1	0	1	0	0	0	0	2440	913	32	0	181	0	C8orf79	8	12870213	Frame_Shift_Del	DEL	CTTA	TCGA-B0-5692-01A-11D-1534-10	10864382	12870213	133493809	34	12704											
FGF17	8822	broad.mit.edu;hgsc.bcm.edu	37	8	21903771	21903771	+	Silent	SNP	C	C	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr8:21903771C>A	ENST00000359441.3	+	3	722	c.219C>A	c.(217-219)atC>atA	p.I73I	FGF17_ENST00000521709.1_3'UTR|FGF17_ENST00000518533.1_Silent_p.I62I	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	73					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.I73I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GGCGTCGCATCTCCGCCACCG	0.657																																																1	Substitution - coding silent(1)	kidney(1)											68	63	65					8																	21903771		2203	4300	6503	SO:0001819	synonymous_variant	8822			AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.219C>A	8.37:g.21903771C>A			B7ZLG4|Q2M2W1	Silent	SNP	ENST00000359441.3	37	CCDS6019.1																																																																																				0.657	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214154.2	NM_003867		A	21903771	C	A	21903771	2	1	209	1	0	0	0	0	0	0	0	1	5847	903	32	4		4	FGF17	8	21903771	Silent	SNP	C	TCGA-B0-5692-01A-11D-1534-10	9033558	21903771	124460251	35	12705											
GPR124	25960	broad.mit.edu	37	8	37693252	37693252	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr8:37693252C>G	ENST00000412232.2	+	13	2027	c.2014C>G	c.(2014-2016)Cgt>Ggt	p.R672G	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	672					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R665G(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGCAAGAGGCGTGGCGTGGC	0.652																																																1	Substitution - Missense(1)	kidney(1)											39	43	42					8																	37693252		2203	4300	6503	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2014C>G	8.37:g.37693252C>G	ENSP00000406367:p.Arg672Gly		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108163	0.77096	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.61392	0.11	5.29	4.39	0.52855	.	0.063428	0.64402	D	0.000020	T	0.72495	0.3467	M	0.69358	2.11	0.50039	D	0.999849	D	0.89917	1.0	D	0.67548	0.952	T	0.75158	-0.3416	10	0.56958	D	0.05	-8.3763	15.0059	0.71513	0.1435:0.8565:0.0:0.0	.	672	Q96PE1	GP124_HUMAN	G	665;672	ENSP00000406367:R672G	ENSP00000406367:R672G	R	+	1	0	GPR124	37812410	0.998000	0.40836	0.967000	0.41034	0.728000	0.41692	1.473000	0.35387	1.184000	0.42957	0.655000	0.94253	CGT		0.652	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			G	37693252	C	G	37693252	3	3	209	1	0	0	0	0	1	0	0	0	6640	768	27	4	2043	4	GPR124	8	37693252	Missense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10	15789481	37693252	108670770	36	12706											
RIMS2	9699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	104933998	104933998	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr8:104933998T>C	ENST00000436393.2	+	8	1757	c.1516T>C	c.(1516-1518)Tca>Cca	p.S506P	RIMS2_ENST00000406091.3_Missense_Mutation_p.S728P|RIMS2_ENST00000507740.1_Missense_Mutation_p.S536P|RIMS2_ENST00000262231.10_Missense_Mutation_p.S583P			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	806					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S536P(2)|p.S728P(1)|p.S811P(1)|p.S506P(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGTTCTTATCAGGACAACT	0.353										HNSCC(12;0.0054)																																						5	Substitution - Missense(5)	kidney(5)											147	133	137					8																	104933998		1852	4092	5944	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1516T>C	8.37:g.104933998T>C	ENSP00000390665:p.Ser506Pro		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	T	6.729	0.503270	0.12822	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.76839	2.19;2.68;-1.05;-1.05;-1.05;-1.05;2.63	5.85	5.85	0.93711	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.71962	0.3402	N	0.03608	-0.345	0.80722	D	1	B;B;D;B;B;D	0.71674	0.015;0.002;0.985;0.08;0.089;0.998	B;B;D;B;B;D	0.73380	0.005;0.006;0.98;0.032;0.024;0.947	T	0.69942	-0.5008	9	0.08179	T	0.78	.	16.2291	0.82321	0.0:0.0:0.0:1.0	.	806;806;506;583;536;728	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	P	728;759;728;806;536;583;536;536;506	ENSP00000427018:S728P;ENSP00000384892:S728P;ENSP00000425205:S536P;ENSP00000262231:S583P;ENSP00000423559:S536P;ENSP00000386228:S536P;ENSP00000390665:S506P	ENSP00000262231:S583P	S	+	1	0	RIMS2	105003174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.080000	0.64437	2.238000	0.73509	0.528000	0.53228	TCA		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		C	104933998	T	C	104933998	3	2	209	1	0	0	0	0	1	0	0	0	13374	1435	50	3	2346	3	RIMS2	8	104933998	Missense_Mutation	SNP	T	TCGA-B0-5692-01A-11D-1534-10	67240746	104933998	41430024	37	12707											
FOXD4L5	653427	hgsc.bcm.edu	37	9	70177922	70177923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr9:70177922_70177923insC	ENST00000377420.1	-	1	892_893	c.61_62insG	c.(61-63)gatfs	p.D21fs		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	21					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						GTCTTCCCCATCGGAGTCCCGG	0.619																																																0																																										SO:0001589	frameshift_variant	653427				CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.62dupG	9.37:g.70177923_70177923dupC	ENSP00000366637:p.Asp21fs			Frame_Shift_Ins	INS	ENST00000377420.1	37	CCDS47977.1																																																																																				0.619	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334		C	70177923	-	C	70177922	7	5	209	1	0	1	1	0	0	0	0	0	6004	1435	50	0	1192	0	FOXD4L5	9	70177922	Frame_Shift_Ins	INS	-	TCGA-B0-5692-01A-11D-1534-10		70177922	71035509	38	12708											
FLJ46321	389763	broad.mit.edu;hgsc.bcm.edu	37	9	84609412	84609412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr9:84609412C>T	ENST00000344803.2	+	4	4074	c.4027C>T	c.(4027-4029)Cag>Tag	p.Q1343*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1343					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q1343*(2)									CTTGAAAACACAGCCTCCTCC	0.468																																																2	Substitution - Nonsense(2)	kidney(2)											23	22	22					9																	84609412		1881	4098	5979	SO:0001587	stop_gained	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4027C>T	9.37:g.84609412C>T	ENSP00000341988:p.Gln1343*			Nonsense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	38	6.799647	0.97849	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.76	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.0227	9.1785	0.37127	0.0:1.0:0.0:0.0	.	.	.	.	X	1343	.	ENSP00000341988:Q1343X	Q	+	1	0	FAM75D1	83799232	0.017000	0.18338	0.007000	0.13788	0.045000	0.14185	0.786000	0.26844	1.884000	0.54569	0.655000	0.94253	CAG		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84609412	C	T	84609412	4	4	209	1	0	0	0	0	0	1	0	0	5934	479	17	2	4041	2	FLJ46321	9	84609412	Nonsense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10	14431490	84609412	56604019	39	12709											
RBM17	84991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	6143320	6143320	+	Silent	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr10:6143320C>T	ENST00000446108.1	+	3	854	c.210C>T	c.(208-210)gaC>gaT	p.D70D	RBM17_ENST00000379888.4_Silent_p.D70D	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	70					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D70D(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AAATTGTGGACACTCCACCGC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											67	57	60					10																	6143320		2203	4300	6503	SO:0001819	synonymous_variant	84991			AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.210C>T	10.37:g.6143320C>T			Q96GY6	Silent	SNP	ENST00000446108.1	37	CCDS7077.1																																																																																				0.512	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		T	6143320	C	T	6143320	2	4	209	1	0	0	0	0	0	0	0	1	13125	477	17	2		2	RBM17	10	6143320	Silent	SNP	C	TCGA-B0-5692-01A-11D-1534-10		6143320	129391427	40	12710											
PTCHD3	374308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	27702183	27702183	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr10:27702183G>T	ENST00000438700.3	-	1	1114	c.997C>A	c.(997-999)Cct>Act	p.P333T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	333					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.P333A(1)|p.P333T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCGTACTCAGGGTCCTCGGTC	0.522																																																2	Substitution - Missense(2)	kidney(1)|pancreas(1)											116	118	117					10																	27702183		2203	4300	6503	SO:0001583	missense	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.997C>A	10.37:g.27702183G>T	ENSP00000417658:p.Pro333Thr		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241875	0.22796	.	.	ENSG00000182077	ENST00000438700	D	0.84873	-1.91	3.89	-5.55	0.02536	.	4.757190	0.00166	N	0.000015	T	0.81805	0.4900	L	0.46157	1.445	0.09310	N	1	B	0.30727	0.292	B	0.38655	0.278	T	0.69202	-0.5207	10	0.33141	T	0.24	16.7405	8.4069	0.32621	0.0:0.2273:0.4098:0.363	.	333	Q3KNS1	PTHD3_HUMAN	T	333	ENSP00000417658:P333T	ENSP00000417658:P333T	P	-	1	0	PTCHD3	27742189	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.433000	0.06948	-0.911000	0.03843	0.561000	0.74099	CCT		0.522	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27702183	G	T	27702183	3	4	209	1	0	0	0	0	1	0	0	0	12739	1232	43	4	1322	4	PTCHD3	10	27702183	Missense_Mutation	SNP	G	TCGA-B0-5692-01A-11D-1534-10	21558863	27702183	107832564	41	12711											
MARCH5	54708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	94109483	94109483	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr10:94109483T>G	ENST00000358935.2	+	5	941	c.609T>G	c.(607-609)caT>caG	p.H203Q	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	203					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H203Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TAGCAGATCATGTCTCTGCTA	0.398																																																1	Substitution - Missense(1)	kidney(1)											270	262	265					10																	94109483		2203	4300	6503	SO:0001583	missense	54708			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26025	protein-coding gene	gene with protein product		610637	"ring finger protein 153"	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.609T>G	10.37:g.94109483T>G	ENSP00000351813:p.His203Gln			Missense_Mutation	SNP	ENST00000358935.2	37	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285727	0.40394	.	.	ENSG00000198060	ENST00000358935	T	0.41758	0.99	6.02	-0.705	0.11252	.	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	L	0.44542	1.39	0.53005	D	0.999964	B	0.10296	0.003	B	0.14023	0.01	T	0.13953	-1.0490	10	0.37606	T	0.19	-5.2125	12.6167	0.56580	0.0:0.4718:0.0:0.5282	.	203	Q9NX47	MARH5_HUMAN	Q	203	ENSP00000351813:H203Q	ENSP00000351813:H203Q	H	+	3	2	MARCH5	94099463	0.003000	0.15002	0.997000	0.53966	0.998000	0.95712	-1.263000	0.02850	-0.095000	0.12351	0.533000	0.62120	CAT		0.398	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		G	94109483	T	G	94109483	3	3	209	1	0	0	0	0	1	0	0	0	9306	1461	51	5	627	5	MARCH5	10	94109483	Missense_Mutation	SNP	T	TCGA-B0-5692-01A-11D-1534-10	66407300	94109483	41425264	42	12712											
LDB1	8861	hgsc.bcm.edu;ucsc.edu	37	10	103870867	103870868	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr10:103870867_103870868delTG	ENST00000425280.1	-	4	549_550	c.207_208delCA	c.(205-210)tacagafs	p.YR69fs	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000361198.5_Frame_Shift_Del_p.YR33fs	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	69					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TCAAATATTCTGTAGTCAGTTT	0.564																																																0																																										SO:0001589	frameshift_variant	8861			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"carboxy terminal LIM domain protein 2"	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.207_208delCA	10.37:g.103870867_103870868delTG	ENSP00000392466:p.Tyr69fs		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Frame_Shift_Del	DEL	ENST00000425280.1	37	CCDS44472.1																																																																																				0.564	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		-	103870868	TG	-	103870867	7	5	209	1	0	1	0	1	0	0	0	0	8697	1588	55	0	1059	0	LDB1	10	103870867	Frame_Shift_Del	DEL	TG	TCGA-B0-5692-01A-11D-1534-10	9761384	103870867	31663880	43	12713											
FIBP	9158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65653801	65653801	+	Silent	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr11:65653801C>T	ENST00000338369.2	-	4	616	c.504G>A	c.(502-504)cgG>cgA	p.R168R	FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000533045.1_Silent_p.R165R|FIBP_ENST00000357519.4_Silent_p.R168R	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	168					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)	p.R168R(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		ACCTGGCCAACCGGTCAGAGA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											118	93	102					11																	65653801		2201	4296	6497	SO:0001819	synonymous_variant	9158			AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.504G>A	11.37:g.65653801C>T			A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Silent	SNP	ENST00000338369.2	37	CCDS8119.1																																																																																				0.577	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897		T	65653801	C	T	65653801	2	4	209	1	0	0	0	0	0	0	0	1	5888	494	18	2		2	FIBP	11	65653801	Silent	SNP	C	TCGA-B0-5692-01A-11D-1534-10		65653801	69352715	44	12714											
SYTL2	54843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	85431940	85431940	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr11:85431940G>A	ENST00000528231.1	-	8	1799	c.1522C>T	c.(1522-1524)Cct>Tct	p.P508S	SYTL2_ENST00000533892.1_5'Flank|SYTL2_ENST00000524452.1_Missense_Mutation_p.P508S|SYTL2_ENST00000359152.5_Missense_Mutation_p.P1354S|SYTL2_ENST00000528566.1_5'Flank|SYTL2_ENST00000389960.4_Missense_Mutation_p.P508S|SYTL2_ENST00000527523.1_Missense_Mutation_p.P460S|SYTL2_ENST00000529581.1_5'Flank|SYTL2_ENST00000354566.3_Missense_Mutation_p.P830S|SYTL2_ENST00000525423.1_Missense_Mutation_p.P830S|SYTL2_ENST00000389958.3_5'Flank|SYTL2_ENST00000316356.4_Missense_Mutation_p.P509S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	508					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.P509S(1)|p.P830S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTTTGGAAGGCATTTTCCTA	0.398																																																2	Substitution - Missense(2)	kidney(2)											106	104	105					11																	85431940		2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1522C>T	11.37:g.85431940G>A	ENSP00000431701:p.Pro508Ser		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339302	0.81911	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525423;ENST00000530351;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T;T;T;T;T	0.51817	1.26;1.29;1.42;1.63;1.29;0.69;1.62;1.44;1.26	5.81	5.81	0.92471	.	0.254270	0.41001	D	0.000971	T	0.65333	0.2681	L	0.50333	1.59	0.48236	D	0.999619	D;P;P;D;P;D;D;D	0.89917	1.0;0.875;0.853;0.984;0.928;1.0;1.0;1.0	D;P;B;P;P;D;D;D	0.97110	0.992;0.719;0.406;0.861;0.719;1.0;0.998;1.0	T	0.59941	-0.7359	9	.	.	.	-16.5705	19.6909	0.96000	0.0:0.0:1.0:0.0	.	460;508;508;509;366;830;830;830	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;SYTL2_HUMAN;.;.;.;.;.	S	508;1354;830;509;830;249;508;460;508	ENSP00000374610:P508S;ENSP00000352065:P1354S;ENSP00000346576:P830S;ENSP00000318803:P509S;ENSP00000432694:P830S;ENSP00000435009:P249S;ENSP00000431701:P508S;ENSP00000434010:P460S;ENSP00000435238:P508S	.	P	-	1	0	SYTL2	85109588	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.389000	0.59639	2.755000	0.94549	0.650000	0.86243	CCT		0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		A	85431940	G	A	85431940	3	1	209	1	0	0	0	0	1	0	0	0	15488	1203	42	2	1378	2	SYTL2	11	85431940	Missense_Mutation	SNP	G	TCGA-B0-5692-01A-11D-1534-10	19778139	85431940	49574576	45	12715											
GRIN2B	2904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14019045	14019045	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr12:14019045G>A	ENST00000609686.1	-	2	307	c.98C>T	c.(97-99)cCc>cTc	p.P33L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	33					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P33L(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCAATGCTGGGGGGGCTCTT	0.582																																																1	Substitution - Missense(1)	kidney(1)											53	56	55					12																	14019045		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.98C>T	12.37:g.14019045G>A	ENSP00000477455:p.Pro33Leu		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191317	0.78902	.	.	ENSG00000150086	ENST00000279593	T	0.11821	2.74	5.7	5.7	0.88788	.	0.220757	0.43260	D	0.000596	T	0.10252	0.0251	N	0.08118	0	0.54753	D	0.999988	B	0.10296	0.003	B	0.01281	0.0	T	0.21143	-1.0254	10	0.72032	D	0.01	.	19.8414	0.96690	0.0:0.0:1.0:0.0	.	33	Q13224	NMDE2_HUMAN	L	33	ENSP00000279593:P33L	ENSP00000279593:P33L	P	-	2	0	GRIN2B	13910312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.202000	0.72131	2.680000	0.91292	0.563000	0.77884	CCC		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			A	14019045	G	A	14019045	3	1	209	1	0	0	0	0	1	0	0	0	6782	1232	43	2	4404	2	GRIN2B	12	14019045	Missense_Mutation	SNP	G	TCGA-B0-5692-01A-11D-1534-10		14019045	119832850	46	12716											
ZBTB39	9880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57396861	57396861	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr12:57396861A>G	ENST00000300101.2	-	2	1926	c.1841T>C	c.(1840-1842)tTt>tCt	p.F614S		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	614					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F614S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGTGTGGGCAAATCTTTTGCC	0.562																																																1	Substitution - Missense(1)	kidney(1)											78	75	76					12																	57396861		2203	4300	6503	SO:0001583	missense	9880			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1841T>C	12.37:g.57396861A>G	ENSP00000300101:p.Phe614Ser		A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466263	0.26335	.	.	ENSG00000166860	ENST00000300101	T	0.40225	1.04	5.18	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71307	0.3324	H	0.94222	3.51	0.54753	D	0.999988	D	0.89917	1.0	D	0.85130	0.997	T	0.77169	-0.2686	10	0.87932	D	0	-9.4019	10.6078	0.45404	0.8383:0.1617:0.0:0.0	.	614	O15060	ZBT39_HUMAN	S	614	ENSP00000300101:F614S	ENSP00000300101:F614S	F	-	2	0	ZBTB39	55683128	1.000000	0.71417	0.988000	0.46212	0.028000	0.11728	7.335000	0.79234	0.995000	0.38917	-0.264000	0.10439	TTT		0.562	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		G	57396861	A	G	57396861	3	3	209	1	0	0	0	0	1	0	0	0	17545	14	1	3	301	3	ZBTB39	12	57396861	Missense_Mutation	SNP	A	TCGA-B0-5692-01A-11D-1534-10	43377816	57396861	76455034	47	12717											
ZFC3H1	196441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	72026187	72026187	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr12:72026187T>A	ENST00000378743.3	-	15	3283	c.2925A>T	c.(2923-2925)gaA>gaT	p.E975D		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	975					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E975D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGGGCATATTCATATTCTA	0.378																																																1	Substitution - Missense(1)	kidney(1)											104	101	102					12																	72026187		1818	4060	5878	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2925A>T	12.37:g.72026187T>A	ENSP00000368017:p.Glu975Asp		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556356	0.45487	.	.	ENSG00000133858	ENST00000378743	T	0.39229	1.09	5.87	-0.63	0.11530	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.18903	-1.0322	10	0.33940	T	0.23	.	12.8421	0.57809	0.0:0.3793:0.0:0.6207	.	975	O60293	ZC3H1_HUMAN	D	975	ENSP00000368017:E975D	ENSP00000368017:E975D	E	-	3	2	ZFC3H1	70312454	0.892000	0.30473	0.998000	0.56505	0.995000	0.86356	-0.066000	0.11598	-0.082000	0.12640	0.477000	0.44152	GAA		0.378	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		A	72026187	T	A	72026187	3	1	209	1	0	0	0	0	1	0	0	0	17638	1490	52	5	3128	5	ZFC3H1	12	72026187	Missense_Mutation	SNP	T	TCGA-B0-5692-01A-11D-1534-10	14629326	72026187	61825708	48	12718											
ACTR6	64431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100617614	100617614	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr12:100617614A>G	ENST00000188312.2	+	11	1877	c.1112A>G	c.(1111-1113)gAt>gGt	p.D371G	ACTR6_ENST00000552376.1_Missense_Mutation_p.D351G|ACTR6_ENST00000551617.1_Missense_Mutation_p.D269G|ACTR6_ENST00000546902.1_Missense_Mutation_p.D289G	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	371						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.D371G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GAGAATGATGATTTTGAAGAT	0.328																																																1	Substitution - Missense(1)	kidney(1)											121	126	124					12																	100617614		2203	4300	6503	SO:0001583	missense	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1112A>G	12.37:g.100617614A>G	ENSP00000188312:p.Asp371Gly		B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669377	0.47677	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;T;T	0.94497	-3.44;-3.44;3.14;3.14	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.91161	0.7216	L	0.37561	1.115	0.80722	D	1	B;B;B	0.13145	0.007;0.005;0.007	B;B;B	0.15052	0.006;0.007;0.012	D	0.87133	0.2198	10	0.29301	T	0.29	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	269;351;371	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	G	371;289;351;269	ENSP00000188312:D371G;ENSP00000448669:D289G;ENSP00000447237:D351G;ENSP00000448356:D269G	ENSP00000188312:D371G	D	+	2	0	ACTR6	99141745	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.759000	0.91667	2.279000	0.76181	0.533000	0.62120	GAT		0.328	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		G	100617614	A	G	100617614	3	3	209	1	0	0	0	0	1	0	0	0	216	333	12	3	1154	3	ACTR6	12	100617614	Missense_Mutation	SNP	A	TCGA-B0-5692-01A-11D-1534-10	28591427	100617614	33234281	49	12719											
N4BP2L2	10443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33016602	33016602	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr13:33016602C>G	ENST00000504114.1	-	6	2118	c.2027G>C	c.(2026-2028)cGt>cCt	p.R676P	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.R594P|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.R691P|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.R676P			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.R691P(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CTCAAGGGAACGGTAGTCAGT	0.398																																																1	Substitution - Missense(1)	kidney(1)											64	64	64					13																	33016602		1898	4148	6046	SO:0001583	missense	10443			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.2027G>C	13.37:g.33016602C>G	ENSP00000427477:p.Arg676Pro		A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37		.	.	.	.	.	.	.	.	.	.	C	11.59	1.682915	0.29872	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000446957	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.34	-10.2	0.00374	.	1.817370	0.02661	N	0.107523	T	0.69468	0.3114	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.23650	0.002;0.089;0.003;0.003;0.003	B;B;B;B;B	0.28011	0.001;0.085;0.001;0.001;0.001	T	0.62469	-0.6848	10	0.87932	D	0	5.4106	2.2566	0.04057	0.1997:0.3347:0.3048:0.1609	.	676;691;574;594;574	B4DPY1;Q92802-3;Q96KV2;Q92802-2;Q9Y3H6	.;.;.;.;.	P	574;603;676;676;691;594	ENSP00000427477:R676P;ENSP00000350104:R676P;ENSP00000382328:R691P;ENSP00000394239:R594P	ENSP00000350104:R676P	R	-	2	0	N4BP2L2;RP11-298P3.4	31914602	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.321000	0.08018	-2.212000	0.00736	-0.324000	0.08512	CGT		0.398	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		G	33016602	C	G	33016602	3	3	209	1	0	0	0	0	1	0	0	0	10114	536	19	4	198	4	N4BP2L2	13	33016602	Missense_Mutation	SNP	C	TCGA-B0-5692-01A-11D-1534-10		33016602	82153276	50	12720											
AP1G2	8906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24033327	24033327	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr14:24033327T>C	ENST00000308724.5	-	10	1774	c.1019A>G	c.(1018-1020)gAt>gGt	p.D340G	AP1G2_ENST00000397120.3_Missense_Mutation_p.D340G|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	340					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.D340G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGCACTGTGATCAGACTGCAC	0.592																																																1	Substitution - Missense(1)	kidney(1)											79	55	63					14																	24033327		2203	4300	6503	SO:0001583	missense	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1019A>G	14.37:g.24033327T>C	ENSP00000312442:p.Asp340Gly		D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573763	0.86542	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.27104	1.69;1.69	4.47	4.47	0.54385	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	M	0.77616	2.38	0.80722	D	1	D;D	0.53462	0.96;0.96	P;D	0.66847	0.907;0.947	T	0.52586	-0.8556	10	0.62326	D	0.03	-13.3131	11.7655	0.51928	0.0:0.0:0.0:1.0	.	340;195	O75843;Q86V28	AP1G2_HUMAN;.	G	340;340;109;195	ENSP00000312442:D340G;ENSP00000380309:D340G	ENSP00000312442:D340G	D	-	2	0	AP1G2	23103167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.130000	0.77235	1.872000	0.54250	0.455000	0.32223	GAT		0.592	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		C	24033327	T	C	24033327	3	2	209	1	0	0	0	0	1	0	0	0	733	1435	50	3	1386	3	AP1G2	14	24033327	Missense_Mutation	SNP	T	TCGA-B0-5692-01A-11D-1534-10		24033327	83316213	51	12721											
YLPM1	56252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75230717	75230717	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr14:75230717delC	ENST00000552421.1	+	1	649	c.525delC	c.(523-525)tacfs	p.Y175fs	YLPM1_ENST00000325680.7_Frame_Shift_Del_p.Y175fs|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.Y175fs			P49750	YLPM1_HUMAN	YLP motif containing 1	175	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCTCTTACTACCCCCCGACCT	0.627																																																0													47	54	52					14																	75230717		2052	4177	6229	SO:0001589	frameshift_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.525delC	14.37:g.75230717delC	ENSP00000447921:p.Tyr175fs		P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000552421.1	37																																																																																					0.627	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		-	75230717	C	-	75230717	7	5	209	1	0	1	0	1	0	0	0	0	17491	518	18	0	527	0	YLPM1	14	75230717	Frame_Shift_Del	DEL	C	TCGA-B0-5692-01A-11D-1534-10	51197390	75230717	32118823	52	12722											
FAM82A2	55177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41046894	41046894	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:41046894G>T	ENST00000260385.6	-	1	1155	c.88C>A	c.(88-90)Ctt>Att	p.L30I	RMDN3_ENST00000338376.3_Missense_Mutation_p.L30I|RMDN3_ENST00000558560.1_5'Flank			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	30					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L30I(1)									TGGCTGTAAAGGAGGCACAGG	0.657																																																1	Substitution - Missense(1)	kidney(1)											57	56	56					15																	41046894		2203	4300	6503	SO:0001583	missense	0			AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.88C>A	15.37:g.41046894G>T	ENSP00000260385:p.Leu30Ile		A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071134	0.55646	.	.	ENSG00000137824	ENST00000260385;ENST00000338376	T;T	0.33216	1.42;1.42	5.59	1.44	0.22558	.	0.475081	0.23504	N	0.047461	T	0.13927	0.0337	N	0.17082	0.46	0.31193	N	0.700711	B	0.14805	0.011	B	0.11329	0.006	T	0.07829	-1.0752	10	0.25751	T	0.34	-1.9296	3.2249	0.06729	0.3345:0.0:0.485:0.1804	.	30	Q96TC7	RMD3_HUMAN	I	30	ENSP00000260385:L30I;ENSP00000342493:L30I	ENSP00000260385:L30I	L	-	1	0	FAM82A2	38834186	0.602000	0.26916	0.950000	0.38849	0.922000	0.55478	1.039000	0.30266	0.836000	0.34901	-0.140000	0.14226	CTT		0.657	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		T	41046894	G	T	41046894	3	4	209	1	0	0	0	0	1	0	0	0	5633	1000	35	4	1372	4	FAM82A2	15	41046894	Missense_Mutation	SNP	G	TCGA-B0-5692-01A-11D-1534-10		41046894	61484498	53	12723											
VPS39	23339	hgsc.bcm.edu	37	15	42500325	42500325	+	Silent	SNP	C	C	T	rs149755806	byFrequency	TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:42500325C>T	ENST00000348544.4	-	1	26	c.27G>A	c.(25-27)ccG>ccA	p.P9P	VPS39_ENST00000318006.5_Silent_p.P9P|RP11-546B15.1_ENST00000561800.1_RNA|RP11-546B15.1_ENST00000563846.1_RNA|VPS39_ENST00000568357.1_5'UTR			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	9					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTTCTAGGATCGGCACTGGCT	0.677													C|||	5	0.000998403	0.0	0.0	5008	,	,		15707	0.005		0.0	False		,,,				2504	0.0															0																																										SO:0001819	synonymous_variant	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.27G>A	15.37:g.42500325C>T			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	CCDS10083.1																																																																																				0.677	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		T	42500325	C	T	42500325	2	4	209	1	0	0	0	0	0	0	0	1	17214	871	31	1		1	VPS39	15	42500325	Silent	SNP	C	TCGA-B0-5692-01A-11D-1534-10	1453431	42500325	60031067	54	12724											
CEP152	22995	hgsc.bcm.edu;ucsc.edu	37	15	49088226	49088228	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:49088226_49088228delTTG	ENST00000380950.2	-	6	857_859	c.670_672delCAA	c.(670-672)caadel	p.Q224del	CEP152_ENST00000325747.5_In_Frame_Del_p.Q131del|CEP152_ENST00000399334.3_In_Frame_Del_p.Q224del	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	224					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTCCTAAAAATTGTTGTTGCAGG	0.35																																																0																																										SO:0001651	inframe_deletion	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.670_672delCAA	15.37:g.49088232_49088234delTTG	ENSP00000370337:p.Gln224del		E7ER66|Q17RV1|Q6NTA0	In_Frame_Del	DEL	ENST00000380950.2	37	CCDS58361.1																																																																																				0.35	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		-	49088228	TTG	-	49088226	7	5	209	1	0	1	0	1	0	0	0	0	3250	1490	52	0	4376	0	CEP152	15	49088226	In_Frame_Del	DEL	TTG	TCGA-B0-5692-01A-11D-1534-10	6587901	49088226	53443166	55	12725											
CCNB2	9133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59415824	59415824	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:59415824A>T	ENST00000288207.2	+	8	1275	c.1084A>T	c.(1084-1086)Atc>Ttc	p.I362F	RP11-59H7.3_ENST00000559026.1_RNA|CCNB2_ENST00000559622.1_Missense_Mutation_p.I234F	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	362					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.I362F(1)		kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						AACTAAATTCATCGTAAGTAC	0.428																																																1	Substitution - Missense(1)	kidney(1)											94	78	83					15																	59415824		2191	4291	6482	SO:0001583	missense	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.1084A>T	15.37:g.59415824A>T	ENSP00000288207:p.Ile362Phe		B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.712125	0.30322	.	.	ENSG00000157456	ENST00000288207	T	0.21543	2.0	5.44	5.44	0.79542	Cyclin, C-terminal (1);Cyclin-like (2);	0.614953	0.17434	N	0.174379	T	0.23766	0.0575	L	0.47716	1.5	0.29121	N	0.880237	B;B	0.18013	0.025;0.012	B;B	0.33620	0.021;0.167	T	0.16158	-1.0412	10	0.54805	T	0.06	.	9.2198	0.37370	0.9193:0.0:0.0807:0.0	.	362;362	Q53HG9;O95067	.;CCNB2_HUMAN	F	362	ENSP00000288207:I362F	ENSP00000288207:I362F	I	+	1	0	CCNB2	57203116	0.985000	0.35326	1.000000	0.80357	0.585000	0.36419	3.140000	0.50585	2.054000	0.61138	0.482000	0.46254	ATC		0.428	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		T	59415824	A	T	59415824	3	4	209	1	0	0	0	0	1	0	0	0	2915	217	8	5	1114	5	CCNB2	15	59415824	Missense_Mutation	SNP	A	TCGA-B0-5692-01A-11D-1534-10	10327598	59415824	43115568	56	12726											
ADAMTS7	11173	broad.mit.edu;hgsc.bcm.edu	37	15	79059785	79059785	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:79059785G>A	ENST00000388820.4	-	18	3005	c.2795C>T	c.(2794-2796)aCt>aTt	p.T932I	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	932	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T932I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGGGTTTCAGTAGGGGGCCG	0.692																																																1	Substitution - Missense(1)	kidney(1)											32	38	36					15																	79059785		2195	4292	6487	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2795C>T	15.37:g.79059785G>A	ENSP00000373472:p.Thr932Ile		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636240	0.29068	.	.	ENSG00000136378	ENST00000388820	T	0.61040	0.14	4.24	4.24	0.50183	.	0.473309	0.22155	N	0.063863	T	0.54951	0.1890	L	0.52823	1.66	0.09310	N	0.999998	B	0.18013	0.025	B	0.20184	0.028	T	0.55554	-0.8123	10	0.66056	D	0.02	.	15.5498	0.76141	0.0:0.0:1.0:0.0	.	932	Q9UKP4	ATS7_HUMAN	I	932	ENSP00000373472:T932I	ENSP00000373472:T932I	T	-	2	0	ADAMTS7	76846840	0.925000	0.31364	0.004000	0.12327	0.150000	0.21749	5.133000	0.64764	2.045000	0.60652	0.478000	0.44815	ACT		0.692	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		A	79059785	G	A	79059785	3	1	209	1	0	0	0	0	1	0	0	0	271	1029	36	2	2293	2	ADAMTS7	15	79059785	Missense_Mutation	SNP	G	TCGA-B0-5692-01A-11D-1534-10	19643961	79059785	23471607	57	12727											
RASGRF1	5923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	79264229	79264229	+	Silent	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:79264229G>A	ENST00000419573.3	-	27	3982	c.3708C>T	c.(3706-3708)taC>taT	p.Y1236Y	RASGRF1_ENST00000558480.2_Silent_p.Y1220Y|RASGRF1_ENST00000394745.3_Silent_p.Y452Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1236	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y1236Y(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTCTATTTTGTAGGCAGTTT	0.493																																																1	Substitution - coding silent(1)	kidney(1)											306	245	266					15																	79264229		2196	4293	6489	SO:0001819	synonymous_variant	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3708C>T	15.37:g.79264229G>A			F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																				0.493	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79264229	G	A	79264229	2	1	209	1	0	0	0	0	0	0	0	1	13078	1372	48	2		2	RASGRF1	15	79264229	Silent	SNP	G	TCGA-B0-5692-01A-11D-1534-10	204444	79264229	23267163	58	12728											
ANKS3	124401	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4776983	4776983	+	Silent	SNP	G	G	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr16:4776983G>C	ENST00000304283.4	-	4	660	c.366C>G	c.(364-366)ctC>ctG	p.L122L	ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000585773.1_Silent_p.L49L|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000592711.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	122								p.L122L(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						AGCTCACCTGGAGAAGAAAGT	0.612																																																1	Substitution - coding silent(1)	kidney(1)											88	84	86					16																	4776983		2197	4300	6497	SO:0001819	synonymous_variant	124401			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.366C>G	16.37:g.4776983G>C			B4DWU4|D3DUE2|Q8TF25	Silent	SNP	ENST00000304283.4	37	CCDS10520.1																																																																																				0.612	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		C	4776983	G	C	4776983	2	2	209	1	0	0	0	0	0	0	0	1	690	1161	41	4		4	ANKS3	16	4776983	Silent	SNP	G	TCGA-B0-5692-01A-11D-1534-10		4776983	85577770	59	12729											
MKL2	57496	broad.mit.edu;ucsc.edu	37	16	14304164	14304164	+	Splice_Site	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr16:14304164A>G	ENST00000341243.5	+	2	186	c.186A>G	c.(184-186)ccA>ccG	p.P62P	MKL2_ENST00000318282.5_Splice_Site_p.P73P|MKL2_ENST00000571589.1_Splice_Site_p.P73P|MKL2_ENST00000573051.1_Splice_Site_p.P22P|MKL2_ENST00000574045.1_Splice_Site_p.P73P|MKL2_ENST00000572567.1_Splice_Site_p.P62P			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	62					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P73P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCATCATGCCACGTAAGATTT	0.478																																																1	Substitution - coding silent(1)	kidney(1)											181	134	150					16																	14304164		2197	4300	6497	SO:0001630	splice_region_variant	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.187+1A>G	16.37:g.14304164A>G			A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37																																																																																					0.478	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048	Silent	G	14304164	A	G	14304164	5	3	209	1	0	0	0	0	0	0	1	0	9604	173	6	3	225	3	MKL2	16	14304164	Splice_Site	SNP	A	TCGA-B0-5692-01A-11D-1534-10	9527181	14304164	76050589	60	12730											
CDH1	999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68845698	68845698	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr16:68845698A>G	ENST00000261769.5	+	7	1135	c.944A>G	c.(943-945)aAt>aGt	p.N315S	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.N315S|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	315	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		N -> S (in lobular breast carcinoma). {ECO:0000269|PubMed:7961105}.		adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.N315S(3)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCTGACAAAAATATGTTCACC	0.547			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	4	Substitution - Missense(3)|Unknown(1)	breast(3)|kidney(1)											113	97	103					16																	68845698		2198	4300	6498	SO:0001583	missense	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.944A>G	16.37:g.68845698A>G	ENSP00000261769:p.Asn315Ser		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	A	4.505	0.093646	0.08632	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.53206	0.63;0.63	5.19	-1.18	0.09617	Cadherin (4);Cadherin-like (1);	0.958419	0.08586	N	0.923785	T	0.33498	0.0865	L	0.45051	1.395	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.001	T	0.32268	-0.9913	10	0.45353	T	0.12	.	1.825	0.03119	0.54:0.1126:0.1299:0.2175	.	315;315	Q9UII8;P12830	.;CADH1_HUMAN	S	315	ENSP00000261769:N315S;ENSP00000414946:N315S	ENSP00000261769:N315S	N	+	2	0	CDH1	67403199	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.613000	0.24299	-0.176000	0.10707	-0.496000	0.04628	AAT		0.547	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		G	68845698	A	G	68845698	3	3	209	1	0	0	0	0	1	0	0	0	3097	101	4	3	970	3	CDH1	16	68845698	Missense_Mutation	SNP	A	TCGA-B0-5692-01A-11D-1534-10	54541534	68845698	21509055	61	12731											
MYH13	8735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10253892	10253892	+	Silent	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr17:10253892C>T	ENST00000418404.3	-	11	1288	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	MYH13_ENST00000252172.4_Silent_p.A375A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	375	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A375A(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGTCTGGCTCCGCCTGCTCCT	0.542																																																2	Substitution - coding silent(2)	kidney(2)											116	112	114					17																	10253892		2203	4300	6503	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1125G>A	17.37:g.10253892C>T			O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.542	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10253892	C	T	10253892	2	4	209	1	0	0	0	0	0	0	0	1	10034	639	23	1		1	MYH13	17	10253892	Silent	SNP	C	TCGA-B0-5692-01A-11D-1534-10		10253892	70941318	62	12732											
NOS2	4843	broad.mit.edu	37	17	26087758	26087758	+	Silent	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr17:26087758G>A	ENST00000313735.6	-	24	3134	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	967	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.F967F(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CGGGGAGGTGGAAGCCGCTGG	0.657											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2901C>T	17.37:g.26087758G>A		784	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	2.148	-0.395082	0.04899	.	.	ENSG00000007171	ENST00000302153	.	.	.	4.59	3.62	0.41486	.	.	.	.	.	T	0.71134	0.3304	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73122	-0.4082	5	0.62326	D	0.03	.	11.7671	0.51937	0.0863:0.0:0.9137:0.0	.	.	.	.	F	687	.	ENSP00000305638:S687F	S	-	2	0	NOS2	23111885	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	6.748000	0.74877	0.948000	0.37687	0.449000	0.29647	TCC		0.657	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		A	26087758	G	A	26087758	2	1	209	1	0	0	0	0	0	0	0	1	10545	1165	41	2		2	NOS2	17	26087758	Silent	SNP	G	TCGA-B0-5692-01A-11D-1534-10	15833866	26087758	55107452	63	12733											
PIP4K2B	8396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36943164	36943164	+	Silent	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr17:36943164G>A	ENST00000269554.3	-	2	649	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	57	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.L57L(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ACATTGCTCAGCTCATTGATC	0.453																																																1	Substitution - coding silent(1)	kidney(1)											229	195	207					17																	36943164		2203	4300	6503	SO:0001819	synonymous_variant	8396			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.169C>T	17.37:g.36943164G>A			Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	CCDS11329.1																																																																																				0.453	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		A	36943164	G	A	36943164	2	1	209	1	0	0	0	0	0	0	0	1	11939	962	34	2		2	PIP4K2B	17	36943164	Silent	SNP	G	TCGA-B0-5692-01A-11D-1534-10	10855406	36943164	44252046	64	12734											
COL1A1	1277	broad.mit.edu;ucsc.edu	37	17	48266574	48266574	+	Silent	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr17:48266574A>G	ENST00000225964.5	-	40	3010	c.2892T>C	c.(2890-2892)ccT>ccC	p.P964P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	964	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P964P(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CTCTCTGACCAGGCAGGCCGA	0.617			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	1	Substitution - coding silent(1)	kidney(1)											38	41	40					17																	48266574		2203	4300	6503	SO:0001819	synonymous_variant	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2892T>C	17.37:g.48266574A>G			O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	CCDS11561.1																																																																																				0.617	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			G	48266574	A	G	48266574	2	3	209	1	0	0	0	0	0	0	0	1	3679	175	7	3		3	COL1A1	17	48266574	Silent	SNP	A	TCGA-B0-5692-01A-11D-1534-10	11323410	48266574	32928636	65	12735											
PPP4R1	9989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	9570186	9570186	+	Silent	SNP	T	T	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr18:9570186T>A	ENST00000400556.3	-	11	1615	c.1542A>T	c.(1540-1542)ctA>ctT	p.L514L	PPP4R1_ENST00000400555.3_Silent_p.L497L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	514					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.L514L(1)		large_intestine(1)|skin(2)	3						TGTGGGGCTCTAGATTTTCTA	0.393																																					Melanoma(188;1232 2082 5061 11948 35994)											1	Substitution - coding silent(1)	kidney(1)											125	119	121					18																	9570186		1843	4089	5932	SO:0001819	synonymous_variant	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1542A>T	18.37:g.9570186T>A			Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	CCDS42412.1																																																																																				0.393	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		A	9570186	T	A	9570186	2	1	209	1	0	0	0	0	0	0	0	1	12408	1509	53	5		5	PPP4R1	18	9570186	Silent	SNP	T	TCGA-B0-5692-01A-11D-1534-10		9570186	68507062	66	12736											
FBN3	84467	hgsc.bcm.edu;ucsc.edu	37	19	8183824	8183825	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr19:8183824_8183825delAC	ENST00000600128.1	-	26	3707_3708	c.3293_3294delGT	c.(3292-3294)tgtfs	p.C1098fs	FBN3_ENST00000270509.2_Frame_Shift_Del_p.C1098fs|FBN3_ENST00000601739.1_Frame_Shift_Del_p.C1098fs			Q75N90	FBN3_HUMAN	fibrillin 3	1098	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1098C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCAGGGGGACACTGGCACTT	0.584																																																1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3293_3294delGT	19.37:g.8183826_8183827delAC	ENSP00000470498:p.Cys1098fs		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Del	DEL	ENST00000600128.1	37	CCDS12196.1																																																																																				0.584	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		-	8183825	AC	-	8183824	7	5	209	1	0	1	0	1	0	0	0	0	5706	273	10	0	5291	0	FBN3	19	8183824	Frame_Shift_Del	DEL	AC	TCGA-B0-5692-01A-11D-1534-10		8183824	50945159	67	12737											
ALKBH6	84964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36504305	36504305	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr19:36504305C>T	ENST00000252984.7	-	0	147				AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000378875.3_Missense_Mutation_p.V27M|ALKBH6_ENST00000495116.2_Intron|AC002116.7_ENST00000586962.1_RNA|ALKBH6_ENST00000485128.1_De_novo_Start_InFrame|ALKBH6_ENST00000486389.1_De_novo_Start_InFrame			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)							cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.V27M(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCATCAACACCAACTCCTTG	0.587																																																1	Substitution - Missense(1)	kidney(1)											161	129	140					19																	36504305		2203	4300	6503			84964			BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"Alkylation repair homologs"	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137		19.37:g.36504305C>T			A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	37		.	.	.	.	.	.	.	.	.	.	C	14.80	2.642946	0.47153	.	.	ENSG00000239382	ENST00000378875	.	.	.	3.52	-6.38	0.01957	.	.	.	.	.	T	0.22859	0.0552	N	0.22421	0.69	0.28552	N	0.911562	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.22417	-1.0217	8	0.48119	T	0.1	.	6.5286	0.22314	0.0:0.3188:0.4247:0.2565	.	20;27	B4E3P3;Q3KRA9-2	.;.	M	27	.	ENSP00000368152:V27M	V	-	1	0	ALKBH6	41196145	0.007000	0.16637	0.008000	0.14137	0.682000	0.39822	-0.532000	0.06164	-1.046000	0.03246	0.585000	0.79938	GTG		0.587	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	NM_032878		T	36504305	C	T	36504305	1	4	209	1	0	1	0	0	0	0	0	0	531	507	18	2		2	ALKBH6	19	36504305	De_novo_Start_InFrame	SNP	C	TCGA-B0-5692-01A-11D-1534-10	28320481	36504305	22624678	68	12738											
ZNF8	7554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58805702	58805702	+	Silent	SNP	C	C	G	rs142117860		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr19:58805702C>G	ENST00000196548.5	+	4	659	c.528C>G	c.(526-528)ctC>ctG	p.L176L	ZNF8_ENST00000608843.1_Silent_p.L176L|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	176					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L176L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		ACAAAACTCTCAGACTCAGGG	0.463																																																1	Substitution - coding silent(1)	kidney(1)											50	47	48					19																	58805702		2203	4300	6503	SO:0001819	synonymous_variant	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.528C>G	19.37:g.58805702C>G			Q6PI99	Silent	SNP	ENST00000196548.5	37	CCDS12974.1																																																																																				0.463	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		G	58805702	C	G	58805702	2	3	209	1	0	0	0	0	0	0	0	1	18172	813	29	4		4	ZNF8	19	58805702	Silent	SNP	C	TCGA-B0-5692-01A-11D-1534-10	22301397	58805702	323281	69	12739											
CHODL	140578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	19629058	19629058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr21:19629058G>A	ENST00000299295.2	+	2	703	c.312G>A	c.(310-312)tgG>tgA	p.W104*	CHODL_ENST00000400127.1_Nonsense_Mutation_p.W63*|CHODL_ENST00000400131.1_Nonsense_Mutation_p.W63*|CHODL_ENST00000400135.1_Nonsense_Mutation_p.W63*|CHODL_ENST00000543733.1_Nonsense_Mutation_p.W85*|CHODL_ENST00000400128.1_Nonsense_Mutation_p.W63*|CHODL_ENST00000338326.3_Nonsense_Mutation_p.W63*	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	104	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)	p.W104*(1)|p.W63*(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TAGGGCTTTGGAGGAATGGAG	0.473																																																2	Substitution - Nonsense(2)	kidney(2)											109	117	114					21																	19629058		2203	4300	6503	SO:0001587	stop_gained	140578			AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"chromosome 21 open reading frame 68"	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.312G>A	21.37:g.19629058G>A	ENSP00000299295:p.Trp104*		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Nonsense_Mutation	SNP	ENST00000299295.2	37	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	G	37	6.485899	0.97607	.	.	ENSG00000154645	ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	.	.	.	5.82	5.82	0.92795	.	0.288290	0.40064	N	0.001186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.5754	19.106	0.93294	0.0:0.0:1.0:0.0	.	.	.	.	X	63;63;63;63;104;63;85	.	.	W	+	3	0	CHODL	18550929	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.319000	0.51983	2.759000	0.94783	0.557000	0.71058	TGG		0.473	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944		A	19629058	G	A	19629058	4	1	209	1	0	0	0	0	0	1	0	0	3366	1183	41	2	318	2	CHODL	21	19629058	Nonsense_Mutation	SNP	G	TCGA-B0-5692-01A-11D-1534-10		19629058	28500837	70	12740											
ATF4	468	hgsc.bcm.edu	37	22	39917910	39917912	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	GTG	GTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr22:39917910_39917912delGTG	ENST00000337304.2	+	2	1241_1243	c.359_361delGTG	c.(358-363)tgtgat>tat	p.120_121CD>Y	ATF4_ENST00000404241.2_In_Frame_Del_p.120_121CD>Y|ATF4_ENST00000396680.1_In_Frame_Del_p.120_121CD>Y	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	120					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	GATGACACTTGTGATCTCTTTGC	0.502																																																0																																										SO:0001651	inframe_deletion	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.359_361delGTG	22.37:g.39917910_39917912delGTG	ENSP00000336790:p.Cys120_Asp121delinsTyr		Q9UH31	In_Frame_Del	DEL	ENST00000337304.2	37	CCDS13996.1																																																																																				0.502	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		-	39917912	GTG	-	39917910	7	5	209	1	0	1	0	1	0	0	0	0	1082	1377	48	0	365	0	ATF4	22	39917910	In_Frame_Del	DEL	GTG	TCGA-B0-5692-01A-11D-1534-10		39917910	11386656	71	12741											
SMC1B	27127	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45779436	45779436	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr22:45779436T>G	ENST00000357450.4	-	12	1968	c.1969A>C	c.(1969-1971)Agt>Cgt	p.S657R	SMC1B_ENST00000404354.3_Missense_Mutation_p.S657R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	657	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.S657R(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTTAAGTCACTTGACCCTCCA	0.363																																																2	Substitution - Missense(2)	kidney(2)											146	130	135					22																	45779436		1816	4076	5892	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1969A>C	22.37:g.45779436T>G	ENSP00000350036:p.Ser657Arg		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102030	0.76983	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.85773	-2.03;-2.03	6.08	6.08	0.98989	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.084079	0.51477	D	0.000089	D	0.89815	0.6824	M	0.69185	2.1	0.58432	D	0.999999	D;D;D	0.69078	0.992;0.997;0.978	P;P;P	0.59115	0.852;0.686;0.686	D	0.88175	0.2867	10	0.30078	T	0.28	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	657;657;657	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	R	657	ENSP00000350036:S657R;ENSP00000385902:S657R	ENSP00000350036:S657R	S	-	1	0	SMC1B	44158100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.759000	0.62227	2.333000	0.79357	0.533000	0.62120	AGT		0.363	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		G	45779436	T	G	45779436	3	3	209	1	0	0	0	0	1	0	0	0	14788	1609	56	5	1794	5	SMC1B	22	45779436	Missense_Mutation	SNP	T	TCGA-B0-5692-01A-11D-1534-10	5861526	45779436	5525130	72	12742											
CXorf66	347487	hgsc.bcm.edu;ucsc.edu	37	X	139038512	139038512	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chrX:139038512G>T	ENST00000370540.1	-	3	652	c.629C>A	c.(628-630)cCt>cAt	p.P210H		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	210						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GAATAGCTGAGGTGGCCTGAC	0.438																																																0													150	133	139					X																	139038512		2203	4300	6503	SO:0001583	missense	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.629C>A	X.37:g.139038512G>T	ENSP00000359571:p.Pro210His			Missense_Mutation	SNP	ENST00000370540.1	37	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896782	0.33535	.	.	ENSG00000203933	ENST00000370540	T	0.42900	0.96	4.31	0.458	0.16670	.	1.286710	0.05562	N	0.569481	T	0.45994	0.1370	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	P	0.62740	0.906	T	0.27468	-1.0073	9	.	.	.	-0.0677	3.2322	0.06752	0.2091:0.0:0.4318:0.3592	.	210	Q5JRM2	CX066_HUMAN	H	210	ENSP00000359571:P210H	.	P	-	2	0	CXorf66	138866178	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.257000	0.08745	-0.049000	0.13379	-1.196000	0.01674	CCT		0.438	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		T	139038512	G	T	139038512	3	4	209	1	0	0	0	0	1	0	0	0	4120	1000	35	4	460	4	CXorf66	23	139038512	Missense_Mutation	SNP	G	TCGA-B0-5692-01A-11D-1534-10		139038512	16232048	73	12743											
LRRC40	55631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70618119	70618119	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr1:70618119A>C	ENST00000370952.3	-	12	1515	c.1436T>G	c.(1435-1437)cTc>cGc	p.L479R		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	479						membrane (GO:0016020)		p.L479R(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TAAATACCTGAGATCTAAAAA	0.294																																																1	Substitution - Missense(1)	kidney(1)											61	60	60					1																	70618119		2203	4295	6498	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1436T>G	1.37:g.70618119A>C	ENSP00000359990:p.Leu479Arg		Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179436	0.78564	.	.	ENSG00000066557	ENST00000370952	T	0.71461	-0.57	5.55	5.55	0.83447	.	0.177570	0.47852	D	0.000218	D	0.88474	0.6446	H	0.98178	4.165	0.52099	D	0.999949	D	0.69078	0.997	D	0.69824	0.966	D	0.92812	0.6265	10	0.87932	D	0	.	15.6901	0.77442	1.0:0.0:0.0:0.0	.	479	Q9H9A6	LRC40_HUMAN	R	479	ENSP00000359990:L479R	ENSP00000359990:L479R	L	-	2	0	LRRC40	70390707	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.283000	0.78640	2.114000	0.64651	0.528000	0.53228	CTC		0.294	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		C	70618119	A	C	70618119	3	2	210	1	0	0	0	0	1	0	0	0	9000	304	11	5	388	5	LRRC40	1	70618119	Missense_Mutation	SNP	A	TCGA-B0-5693-01A-11D-1534-10		70618119	178632502	1	12744											
CCDC18	343099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	93649561	93649561	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr1:93649561A>G	ENST00000343253.7	+	3	663	c.161A>G	c.(160-162)tAt>tGt	p.Y54C	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.Y172C|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.Y54C			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	54								p.Y172C(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AATTCTGATTATGCCCCTAAT	0.323																																																1	Substitution - Missense(1)	kidney(1)											134	123	127					1																	93649561		1816	4078	5894	SO:0001583	missense	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.161A>G	1.37:g.93649561A>G	ENSP00000343377:p.Tyr54Cys		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.59|14.59	2.579560|2.579560	0.46006|0.46006	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	6.02|6.02	1.07|1.07	0.20283|0.20283	.|.	.|0.493890	.|0.19883	.|N	.|0.103921	T|T	0.13628|0.13628	0.0330|0.0330	L|L	0.44542|0.44542	1.39|1.39	0.18873|0.18873	N|N	0.999988|0.999988	.|P	.|0.50272	.|0.933	.|P	.|0.46339	.|0.513	T|T	0.06826|0.06826	-1.0805|-1.0805	5|9	.|0.40728	.|T	.|0.16	.|.	3.1298|3.1298	0.06419|0.06419	0.5347:0.0:0.1488:0.3165|0.5347:0.0:0.1488:0.3165	.|.	.|172	.|G3V388	.|.	V|C	108|54;54;172	.|.	.|ENSP00000343377:Y54C	M|Y	+|+	1|2	0|0	CCDC18|CCDC18	93422149|93422149	0.005000|0.005000	0.15991|0.15991	0.819000|0.819000	0.32651|0.32651	0.855000|0.855000	0.48748|0.48748	0.554000|0.554000	0.23407|0.23407	0.461000|0.461000	0.27071|0.27071	0.482000|0.482000	0.46254|0.46254	ATG|TAT		0.323	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		G	93649561	A	G	93649561	3	3	210	1	0	0	0	0	1	0	0	0	2796	449	16	3	525	3	CCDC18	1	93649561	Missense_Mutation	SNP	A	TCGA-B0-5693-01A-11D-1534-10	23031442	93649561	155601060	2	12745											
TOR3A	64222	broad.mit.edu;hgsc.bcm.edu	37	1	179057120	179057120	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr1:179057120G>C	ENST00000367627.3	+	4	1466	c.714G>C	c.(712-714)gaG>gaC	p.E238D	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Missense_Mutation_p.E238D	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	238					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E238D(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						ATGAAGCGGAGAAGCTGCACC	0.607																																																1	Substitution - Missense(1)	kidney(1)											69	74	73					1																	179057120		2203	4300	6503	SO:0001583	missense	64222			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.714G>C	1.37:g.179057120G>C	ENSP00000356599:p.Glu238Asp		B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	G	1.415	-0.574512	0.03882	.	.	ENSG00000186283	ENST00000367627;ENST00000352445;ENST00000447595	T;T;T	0.25579	1.79;1.79;1.79	5.33	5.33	0.75918	.	0.051299	0.85682	D	0.000000	T	0.17238	0.0414	N	0.19112	0.55	0.58432	D	0.999991	P	0.43826	0.818	B	0.44224	0.444	T	0.02813	-1.1107	10	0.02654	T	1	-29.7458	13.7194	0.62717	0.0:0.1541:0.8459:0.0	.	238	Q9H497	TOR3A_HUMAN	D	238;238;130	ENSP00000356599:E238D;ENSP00000335351:E238D;ENSP00000410195:E130D	ENSP00000335351:E238D	E	+	3	2	TOR3A	177323743	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	2.129000	0.42055	2.487000	0.83934	0.561000	0.74099	GAG		0.607	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		C	179057120	G	C	179057120	3	2	210	1	0	0	0	0	1	0	0	0	16381	933	33	4	728	4	TOR3A	1	179057120	Missense_Mutation	SNP	G	TCGA-B0-5693-01A-11D-1534-10	85407559	179057120	70193501	3	12746											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179398617	179398617	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr2:179398617T>C	ENST00000591111.1	-	308	98026	c.97802A>G	c.(97801-97803)aAg>aGg	p.K32601R	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K25369R|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K25177R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K34242R|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K31674R|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K25302R			Q8WZ42	TITIN_HUMAN	titin	32601					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)	p.K25369R(1)|p.K25302R(1)|p.K25177R(1)|p.K31672R(1)|p.K31674R(1)		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)			CTTAATTTTCTTCATGGTTCT	0.403																																																5	Substitution - Missense(5)	kidney(5)											93	85	88					2																	179398617		1892	4108	6000	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97802A>G	2.37:g.179398617T>C	ENSP00000465570:p.Lys32601Arg		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.46	1.945573	0.34377	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65178	-0.14;0.12;0.1;0.07	5.6	4.45	0.53987	Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.42086	0.1187	N	0.08118	0	0.42411	D	0.992608	B;B;B;B	0.17465	0.022;0.022;0.022;0.012	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.33394	-0.9870	9	0.87932	D	0	.	11.0911	0.48117	0.0:0.0734:0.0:0.9266	.	25177;25302;25369;32601	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	31674;25177;25369;25302;25174	ENSP00000343764:K31674R;ENSP00000434586:K25177R;ENSP00000340554:K25369R;ENSP00000352154:K25302R	ENSP00000340554:K25369R	K	-	2	0	TTN	179106863	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.469000	0.35343	0.966000	0.38159	-0.415000	0.06103	AAG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179398617	T	C	179398617	3	2	210	1	0	0	0	0	1	0	0	0	16740	1609	56	3	5274	3	TTN	2	179398617	Missense_Mutation	SNP	T	TCGA-B0-5693-01A-11D-1534-10		179398617	63800756	4	12747											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188294	10188295	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr3:10188294_10188295insT	ENST00000256474.2	+	2	1277_1278	c.437_438insT	c.(436-441)cctattfs	p.I147fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	147	Involved in binding to CCT complex.		I -> T (in pheochromocytoma). {ECO:0000269|PubMed:9663592}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P146fs*13(3)|p.P146P(2)|p.Q145fs*12(1)|p.I147fs*26(1)|p.P146fs*12(1)|p.P146fs*23(1)|p.S139fs*12(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GACGGACAGCCTATTTTTGCCA	0.411		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Deletion - Frameshift(9)|Substitution - coding silent(2)	kidney(11)	GRCh37	CD031548	VHL	D																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.438dupT	3.37:g.10188295_10188295dupT	ENSP00000256474:p.Ile147fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.411	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188295	-	T	10188294	7	5	210	1	0	1	1	0	0	0	0	0	17167	681	24	0	443	0	VHL	3	10188294	Frame_Shift_Ins	INS	-	TCGA-B0-5693-01A-11D-1534-10		10188294	187834136	5	12748											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52649440	52649440	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr3:52649440delT	ENST00000296302.7	-	15	1852	c.1851delA	c.(1849-1851)ttafs	p.L618fs	PBRM1_ENST00000409057.1_Frame_Shift_Del_p.L618fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.L618fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.L618fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.L586fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.L633fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.L618fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.L633fs			Q86U86	PB1_HUMAN	polybromo 1	618					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTCCTTGAGTAACTTCTCCA	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													113	103	106					3																	52649440		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1851delA	3.37:g.52649440delT	ENSP00000296302:p.Leu618fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52649440	T	-	52649440	7	5	210	1	0	1	0	1	0	0	0	0	11493	1635	57	0	3113	0	PBRM1	3	52649440	Frame_Shift_Del	DEL	T	TCGA-B0-5693-01A-11D-1534-10	42461146	52649440	145372990	6	12749											
CGGBP1	8545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	88104822	88104822	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr3:88104822C>G	ENST00000398392.2	-	1	1637	c.305G>C	c.(304-306)aGt>aCt	p.S102T	CGGBP1_ENST00000474441.1_5'Flank|CGGBP1_ENST00000309534.6_Missense_Mutation_p.S102T|CGGBP1_ENST00000482016.1_Missense_Mutation_p.S102T|CGGBP1_ENST00000462901.1_Missense_Mutation_p.S102T			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	102					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.S102T(2)		kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		CTGGATAACACTGACTTTCTC	0.483																																																2	Substitution - Missense(2)	kidney(2)											118	120	119					3																	88104822		1998	4172	6170	SO:0001583	missense	8545			AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"p20-CGG binding protein"	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.305G>C	3.37:g.88104822C>G	ENSP00000381429:p.Ser102Thr		D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	C	8.408	0.843614	0.16963	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901;ENST00000467332	.	.	.	5.86	5.86	0.93980	.	0.000000	0.45867	U	0.000336	T	0.39911	0.1096	N	0.14661	0.345	0.37924	D	0.931794	B	0.29955	0.263	B	0.21360	0.034	T	0.36407	-0.9749	9	0.20519	T	0.43	-16.0985	17.392	0.87434	0.0:1.0:0.0:0.0	.	102	Q9UFW8	CGBP1_HUMAN	T	102	.	ENSP00000381428:S102T	S	-	2	0	CGGBP1	88187512	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.483000	0.45233	2.787000	0.95880	0.650000	0.86243	AGT		0.483	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390		G	88104822	C	G	88104822	3	3	210	1	0	0	0	0	1	0	0	0	3304	565	20	4	202	4	CGGBP1	3	88104822	Missense_Mutation	SNP	C	TCGA-B0-5693-01A-11D-1534-10	35455382	88104822	109917608	7	12750											
CCDC54	84692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	107097368	107097368	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr3:107097368A>G	ENST00000261058.1	+	1	1181	c.934A>G	c.(934-936)Aac>Gac	p.N312D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	312								p.N312D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTCCATCTTCAACAATATTTA	0.423																																																1	Substitution - Missense(1)	kidney(1)											81	82	82					3																	107097368		2138	4273	6411	SO:0001583	missense	84692			AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.934A>G	3.37:g.107097368A>G	ENSP00000261058:p.Asn312Asp		Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.777246	0.31411	.	.	ENSG00000138483	ENST00000261058	T	0.52983	0.64	5.09	2.51	0.30379	.	0.110120	0.39834	N	0.001260	T	0.51126	0.1656	M	0.64997	1.995	0.22066	N	0.999385	D	0.57257	0.979	P	0.53518	0.728	T	0.41610	-0.9499	10	0.59425	D	0.04	-10.4542	5.9448	0.19213	0.6684:0.1692:0.0:0.1624	.	312	Q8NEL0	CCD54_HUMAN	D	312	ENSP00000261058:N312D	ENSP00000261058:N312D	N	+	1	0	CCDC54	108580058	1.000000	0.71417	0.974000	0.42286	0.046000	0.14306	1.230000	0.32612	0.742000	0.32697	0.377000	0.23210	AAC		0.423	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		G	107097368	A	G	107097368	3	3	210	1	0	0	0	0	1	0	0	0	2826	130	5	3	936	3	CCDC54	3	107097368	Missense_Mutation	SNP	A	TCGA-B0-5693-01A-11D-1534-10	18992546	107097368	90925062	8	12751											
C3orf1	51300	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	119242475	119242475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr3:119242475G>T	ENST00000494664.1	+	7	932	c.730G>T	c.(730-732)Gag>Tag	p.E244*	TIMMDC1_ENST00000493694.1_Nonsense_Mutation_p.E110*	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	244						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E244*(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACAAGTTACTGAGCACCTCCC	0.358																																																1	Substitution - Nonsense(1)	kidney(1)											105	110	108					3																	119242475		2203	4300	6503	SO:0001587	stop_gained	0			AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"chromosome 3 open reading frame 1"	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.730G>T	3.37:g.119242475G>T	ENSP00000418803:p.Glu244*		D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Nonsense_Mutation	SNP	ENST00000494664.1	37	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070611	0.20147	.	.	ENSG00000113845	ENST00000494664;ENST00000493694	.	.	.	5.54	4.66	0.58398	.	0.231484	0.43747	D	0.000539	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.5191	12.3596	0.55194	0.0:0.1687:0.8313:0.0	.	.	.	.	X	244;110	.	ENSP00000419510:E110X	E	+	1	0	TIMMDC1	120725165	1.000000	0.71417	0.358000	0.25811	0.087000	0.18053	2.913000	0.48790	1.566000	0.49654	0.650000	0.86243	GAG		0.358	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		T	119242475	G	T	119242475	4	4	210	1	0	0	0	0	0	1	0	0	2208	1291	45	4	756	4	C3orf1	3	119242475	Nonsense_Mutation	SNP	G	TCGA-B0-5693-01A-11D-1534-10	12145107	119242475	78779955	9	12752											
FBXL17	64839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	107703606	107703606	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr5:107703606C>G	ENST00000542267.1	-	2	1448	c.1042G>C	c.(1042-1044)Gtt>Ctt	p.V348L	FBXL17_ENST00000496714.1_5'UTR|FBXL17_ENST00000359660.5_5'UTR	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	348	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.V348L(1)		endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TACTTGCAAACCAATGATGCG	0.403																																																1	Substitution - Missense(1)	kidney(1)											172	135	146					5																	107703606		692	1591	2283	SO:0001583	missense	64839			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1042G>C	5.37:g.107703606C>G	ENSP00000437464:p.Val348Leu		A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011224	0.93346	.	.	ENSG00000145743	ENST00000542267	T	0.54479	0.57	4.92	4.92	0.64577	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	.	.	.	.	T	0.79052	0.4381	M	0.91872	3.25	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.84560	0.0649	9	0.87932	D	0	.	18.4748	0.90788	0.0:1.0:0.0:0.0	.	348	Q9UF56	FXL17_HUMAN	L	348	ENSP00000437464:V348L	ENSP00000437464:V348L	V	-	1	0	FBXL17	107731505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.421000	0.80204	2.435000	0.82474	0.563000	0.77884	GTT		0.403	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	107703606	C	G	107703606	3	3	210	1	0	0	0	0	1	0	0	0	5715	507	18	4	1095	4	FBXL17	5	107703606	Missense_Mutation	SNP	C	TCGA-B0-5693-01A-11D-1534-10		107703606	73211654	10	12753											
YTHDC2	64848	broad.mit.edu;hgsc.bcm.edu	37	5	112899759	112899759	+	Silent	SNP	T	T	C			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr5:112899759T>C	ENST00000161863.4	+	20	2859	c.2646T>C	c.(2644-2646)gcT>gcC	p.A882A		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	882					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.A882A(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AACGTGCAGCTATGCTTTGTA	0.418																																																1	Substitution - coding silent(1)	kidney(1)											144	142	142					5																	112899759		2202	4300	6502	SO:0001819	synonymous_variant	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2646T>C	5.37:g.112899759T>C			B2RP66	Silent	SNP	ENST00000161863.4	37	CCDS4113.1																																																																																				0.418	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		C	112899759	T	C	112899759	2	2	210	1	0	0	0	0	0	0	0	1	17502	1509	53	3		3	YTHDC2	5	112899759	Silent	SNP	T	TCGA-B0-5693-01A-11D-1534-10	5196153	112899759	68015501	11	12754											
ADCY1	107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	45725770	45725770	+	Silent	SNP	G	G	A			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr7:45725770G>A	ENST00000297323.7	+	13	2305	c.2283G>A	c.(2281-2283)acG>acA	p.T761T		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	761					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.T761T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCTCACCACGTCCTACATCC	0.567																																																1	Substitution - coding silent(1)	kidney(1)											92	86	88					7																	45725770		2203	4300	6503	SO:0001819	synonymous_variant	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2283G>A	7.37:g.45725770G>A			A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	CCDS34631.1																																																																																				0.567	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		A	45725770	G	A	45725770	2	1	210	1	0	0	0	0	0	0	0	1	292	1132	40	1		1	ADCY1	7	45725770	Silent	SNP	G	TCGA-B0-5693-01A-11D-1534-10		45725770	113412893	12	12755											
WBSCR27	155368	hgsc.bcm.edu	37	7	73249165	73249165	+	Missense_Mutation	SNP	T	T	A	rs13246460	byFrequency	TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr7:73249165T>A	ENST00000297873.4	-	6	695	c.646A>T	c.(646-648)Agg>Tgg	p.R216W		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	216				R -> W (in Ref. 1; AAN63884, 2; AAQ55828 and 4; AAH30295). {ECO:0000305}.						NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GGATACCACCTCCAGCTCGGA	0.627													T|||	2910	0.58107	0.4629	0.6124	5008	,	,		15582	0.5813		0.7256	False		,,,				2504	0.5695															0								T	TRP/ARG	2290,2116	597.0+/-388.8	593,1104,506	67	61	63		646	5.2	0.1	7	dbSNP_121	63	6384,2216	708.8+/-405.7	2371,1642,287	yes	missense	WBSCR27	NM_152559.2	101	2964,2746,793	AA,AT,TT		25.7674,48.0254,33.3077	probably-damaging	216/246	73249165	8674,4332	2203	4300	6503	SO:0001583	missense	155368			AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.646A>T	7.37:g.73249165T>A	ENSP00000297873:p.Arg216Trp			Missense_Mutation	SNP	ENST00000297873.4	37	CCDS5561.1	1327	0.6076007326007326	227	0.4613821138211382	218	0.6022099447513812	328	0.5734265734265734	554	0.7308707124010554	T	23.8	4.463481	0.84425	0.519746	0.742326	ENSG00000165171	ENST00000297873	T	0.69685	-0.42	5.25	5.25	0.73442	.	1.356490	0.04448	N	0.372109	T	0.00012	0.0000	N	0.22421	0.69	0.46131	P	0.0011200000000000099	D	0.55800	0.973	B	0.43754	0.43	T	0.38972	-0.9636	9	0.37606	T	0.19	-8.7324	11.6685	0.51387	0.0:0.0:0.0:1.0	rs13246460;rs17845919;rs17858895	216	Q8N6F8	WBS27_HUMAN	W	216	ENSP00000297873:R216W	ENSP00000297873:R216W	R	-	1	2	WBSCR27	72887101	0.999000	0.42202	0.106000	0.21319	0.330000	0.28571	5.701000	0.68325	2.013000	0.59113	0.449000	0.29647	AGG		0.627	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559		A	73249165	T	A	73249165	3	1	210	1	0	0	0	0	1	0	0	0	17271	1550	54	5	95	5	WBSCR27	7	73249165	Missense_Mutation	SNP	T	TCGA-B0-5693-01A-11D-1534-10	27523395	73249165	85889498	13	12756											
FAM91A1	157769	hgsc.bcm.edu;ucsc.edu	37	8	124792237	124792237	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr8:124792237delC	ENST00000334705.7	+	7	808	c.562delC	c.(562-564)cctfs	p.P188fs	FAM91A1_ENST00000521166.1_Frame_Shift_Del_p.P188fs	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	188										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ATGCACTTTGCCTGAGAAATG	0.338																																																0													111	101	104					8																	124792237		1853	4101	5954	SO:0001589	frameshift_variant	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.562delC	8.37:g.124792237delC	ENSP00000335082:p.Pro188fs		B6YY23|Q658T5|Q8TE89	Frame_Shift_Del	DEL	ENST00000334705.7	37	CCDS6346.2																																																																																				0.338	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		-	124792237	C	-	124792237	7	5	210	1	0	1	0	1	0	0	0	0	5653	739	26	0	588	0	FAM91A1	8	124792237	Frame_Shift_Del	DEL	C	TCGA-B0-5693-01A-11D-1534-10		124792237	21571785	14	12757											
UBQLN1	29979	broad.mit.edu;ucsc.edu	37	9	86276810	86276810	+	Silent	SNP	G	G	C			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr9:86276810G>C	ENST00000376395.4	-	11	2185	c.1662C>G	c.(1660-1662)ctC>ctG	p.L554L	UBQLN1_ENST00000257468.7_Silent_p.L526L	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	554	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.L554L(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CCATTGCACTGAGTTGTTCCA	0.418																																					Melanoma(186;1284 2073 12755 14558 18426)											1	Substitution - coding silent(1)	kidney(1)											162	154	157					9																	86276810		2203	4300	6503	SO:0001819	synonymous_variant	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1662C>G	9.37:g.86276810G>C			Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Silent	SNP	ENST00000376395.4	37	CCDS6663.1																																																																																				0.418	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		C	86276810	G	C	86276810	2	2	210	1	0	0	0	0	0	0	0	1	16901	1277	45	4		4	UBQLN1	9	86276810	Silent	SNP	G	TCGA-B0-5693-01A-11D-1534-10		86276810	54936621	15	12758											
CKS2	1164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	91931300	91931300	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr9:91931300T>G	ENST00000314355.6	+	3	295	c.200T>G	c.(199-201)cTt>cGt	p.L67R	SECISBP2_ENST00000534113.2_5'Flank|SECISBP2_ENST00000375807.3_5'Flank|SECISBP2_ENST00000339901.4_5'Flank	NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	67					cell proliferation (GO:0008283)|meiosis I (GO:0007127)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.L67R(1)		kidney(1)|large_intestine(1)	2						CCACATATTCTTCTCTTTAGA	0.289																																																1	Substitution - Missense(1)	kidney(1)											37	35	36					9																	91931300		2199	4287	6486	SO:0001583	missense	1164			X54942	CCDS6682.1	9q22	2008-02-05	2002-10-07		ENSG00000123975	ENSG00000123975			2000	protein-coding gene	gene with protein product		116901	"CDC28 protein kinase 2"			2227411, 8697818	Standard	NM_001827		Approved		uc004aqh.3	P33552	OTTHUMG00000020180	ENST00000314355.6:c.200T>G	9.37:g.91931300T>G	ENSP00000364976:p.Leu67Arg		Q6FGI9|Q6LET5	Missense_Mutation	SNP	ENST00000314355.6	37	CCDS6682.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.976008	0.74360	.	.	ENSG00000123975	ENST00000314355	.	.	.	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.79845	0.4516	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.83125	-0.0116	8	0.87932	D	0	-8.6307	15.156	0.72743	0.0:0.0:0.0:1.0	.	67	P33552	CKS2_HUMAN	R	67	.	ENSP00000364976:L67R	L	+	2	0	CKS2	91121120	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.326000	0.79133	2.223000	0.72356	0.456000	0.33151	CTT		0.289	CKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052988.1	NM_001827		G	91931300	T	G	91931300	3	3	210	1	0	0	0	0	1	0	0	0	3455	1609	56	5	210	5	CKS2	9	91931300	Missense_Mutation	SNP	T	TCGA-B0-5693-01A-11D-1534-10	5654490	91931300	49282131	16	12759											
AKAP2	11217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	112918733	112918733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr9:112918733G>T	ENST00000259318.7	+	3	2644	c.2437G>T	c.(2437-2439)Gag>Tag	p.E813*	PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.E1044*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.E1044*|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.E902*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.E902*|PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.E1044*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.E1044*	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	813								p.E1044*(1)|p.E902*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GGAAGACTATGAGACACACAA	0.537																																																2	Substitution - Nonsense(2)	kidney(2)											97	96	96					9																	112918733		2203	4300	6503	SO:0001587	stop_gained	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2437G>T	9.37:g.112918733G>T	ENSP00000259318:p.Glu813*		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Nonsense_Mutation	SNP	ENST00000259318.7	37	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	44	10.711569	0.99454	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000259318	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-34.2128	18.7114	0.91658	0.0:0.0:1.0:0.0	.	.	.	.	X	1044;1044;1044;1044;902;902;813	.	ENSP00000259318:E813X	E	+	1	0	PALM2-AKAP2;AKAP2	111958554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.051000	0.93849	2.730000	0.93505	0.655000	0.94253	GAG		0.537	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		T	112918733	G	T	112918733	4	4	210	1	0	0	0	0	0	1	0	0	451	1291	45	4	2714	4	AKAP2	9	112918733	Nonsense_Mutation	SNP	G	TCGA-B0-5693-01A-11D-1534-10	20987433	112918733	28294698	17	12760											
TRDMT1	1787	broad.mit.edu	37	10	17195591	17195591	+	Silent	SNP	T	T	C			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr10:17195591T>C	ENST00000377799.3	-	10	1037	c.990A>G	c.(988-990)gaA>gaG	p.E330E	TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Silent_p.E284E|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000412821.3_Silent_p.E306E|TRDMT1_ENST00000488990.1_Silent_p.E207E|TRDMT1_ENST00000457442.2_Silent_p.E249E	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	330	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)	p.E330E(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TTGTTATCTGTTCTTCTTGTG	0.343																																																1	Substitution - coding silent(1)	kidney(1)											137	130	132					10																	17195591		2203	4300	6503	SO:0001819	synonymous_variant	1787			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.990A>G	10.37:g.17195591T>C			B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Silent	SNP	ENST00000377799.3	37	CCDS7114.1																																																																																				0.343	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		C	17195591	T	C	17195591	2	2	210	1	0	0	0	0	0	0	0	1	16472	1722	60	3		3	TRDMT1	10	17195591	Silent	SNP	T	TCGA-B0-5693-01A-11D-1534-10		17195591	118339156	18	12761											
PCDH15	65217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	55587279	55587279	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr10:55587279C>T	ENST00000320301.6	-	32	4635	c.4241G>A	c.(4240-4242)cGa>cAa	p.R1414Q	PCDH15_ENST00000414778.1_Missense_Mutation_p.R1416Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1421Q|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1421Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1411Q|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1025Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1374Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1389Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1414Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1414Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1343Q|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1414					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R1414Q(2)|p.R1419Q(1)|p.R1416Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCCTGAATTCGTGCAGTCTT	0.542										HNSCC(58;0.16)																																						4	Substitution - Missense(4)	kidney(4)											81	85	84					10																	55587279		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4241G>A	10.37:g.55587279C>T	ENSP00000322604:p.Arg1414Gln		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689671	0.68271	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.63096	0.48;0.42;0.4;0.41;0.42;0.1;0.15;0.13;0.15;0.06;-0.02	5.6	4.68	0.58851	.	.	.	.	.	T	0.55369	0.1916	L	0.32530	0.975	0.45005	D	0.99802	P;P;P;P;B;P;P;B;B;B;B;B;P	0.52061	0.95;0.764;0.764;0.602;0.42;0.764;0.95;0.197;0.448;0.448;0.448;0.448;0.764	P;B;B;B;B;B;P;B;B;B;B;B;B	0.44422	0.449;0.122;0.122;0.062;0.063;0.122;0.449;0.033;0.042;0.042;0.048;0.063;0.122	T	0.61148	-0.7121	9	0.62326	D	0.03	.	15.0921	0.72204	0.0:0.9276:0.0:0.0724	.	1389;1414;1414;1419;1343;1374;1411;1414;1421;1421;1414;1416;1414	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	1421;1416;1414;1414;1025;1421;1374;1414;1389;1414;1411;1419;1343	ENSP00000363076:R1421Q;ENSP00000410304:R1416Q;ENSP00000378826:R1414Q;ENSP00000386693:R1025Q;ENSP00000378832:R1421Q;ENSP00000378820:R1374Q;ENSP00000354950:R1414Q;ENSP00000378821:R1389Q;ENSP00000322604:R1414Q;ENSP00000378818:R1411Q;ENSP00000412628:R1343Q	ENSP00000322604:R1414Q	R	-	2	0	PCDH15	55257285	0.466000	0.25823	0.980000	0.43619	0.860000	0.49131	4.063000	0.57499	2.786000	0.95864	0.561000	0.74099	CGA		0.542	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		T	55587279	C	T	55587279	3	4	210	1	0	0	0	0	1	0	0	0	11513	884	31	1	3253	1	PCDH15	10	55587279	Missense_Mutation	SNP	C	TCGA-B0-5693-01A-11D-1534-10	38391688	55587279	79947468	19	12762											
NHLRC2	374354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	115614767	115614767	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr10:115614767G>A	ENST00000369301.3	+	1	348	c.136G>A	c.(136-138)Gac>Aac	p.D46N	DCLRE1A_ENST00000369305.1_5'Flank|DCLRE1A_ENST00000361384.2_5'Flank|DCLRE1A_ENST00000476112.1_5'Flank	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	46	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.							p.D46N(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GCAGAAGGTGGACGGCTGGGA	0.677																																																1	Substitution - Missense(1)	kidney(1)											49	43	45					10																	115614767		2164	4190	6354	SO:0001583	missense	374354			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.136G>A	10.37:g.115614767G>A	ENSP00000358307:p.Asp46Asn		Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517901	0.85495	.	.	ENSG00000196865	ENST00000369301	T	0.51817	0.69	5.21	5.21	0.72293	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	L	0.57536	1.79	0.80722	D	1	D	0.67145	0.996	P	0.58331	0.837	T	0.59252	-0.7489	10	0.38643	T	0.18	-18.4967	16.93	0.86188	0.0:0.0:1.0:0.0	.	46	Q8NBF2	NHLC2_HUMAN	N	46	ENSP00000358307:D46N	ENSP00000358307:D46N	D	+	1	0	NHLRC2	115604757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.471000	0.73562	2.410000	0.81850	0.561000	0.74099	GAC		0.677	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		A	115614767	G	A	115614767	3	1	210	1	0	0	0	0	1	0	0	0	10408	1174	41	2	138	2	NHLRC2	10	115614767	Missense_Mutation	SNP	G	TCGA-B0-5693-01A-11D-1534-10	60027488	115614767	19919980	20	12763											
MEN1	4221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64573234	64573234	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr11:64573234delT	ENST00000337652.1	-	8	1576	c.1073delA	c.(1072-1074)tacfs	p.Y358fs	MEN1_ENST00000315422.4_Frame_Shift_Del_p.Y353fs|MAP4K2_ENST00000377350.3_5'Flank|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377316.2_Frame_Shift_Del_p.Y353fs|MEN1_ENST00000377326.3_Frame_Shift_Del_p.Y353fs|MEN1_ENST00000443283.1_Frame_Shift_Del_p.Y358fs|MEN1_ENST00000394376.1_Frame_Shift_Del_p.Y358fs|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000312049.6_Frame_Shift_Del_p.Y353fs|MEN1_ENST00000377313.1_Frame_Shift_Del_p.Y358fs|MEN1_ENST00000394374.2_Frame_Shift_Del_p.Y358fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.Y318fs|MAP4K2_ENST00000468062.1_5'Flank	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	358	Interaction with FANCD2.		Y -> D (in MEN1). {ECO:0000269|PubMed:10993647}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TTCCCGGCAGTAGTTGTAGCT	0.612			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0													111	113	112					11																	64573234		2201	4297	6498	SO:0001589	frameshift_variant	4221	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1073delA	11.37:g.64573234delT	ENSP00000337088:p.Tyr358fs		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL	ENST00000337652.1	37	CCDS8083.1																																																																																				0.612	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			-	64573234	T	-	64573234	7	5	210	1	0	1	0	1	0	0	0	0	9474	1638	57	0	786	0	MEN1	11	64573234	Frame_Shift_Del	DEL	T	TCGA-B0-5693-01A-11D-1534-10		64573234	70433282	21	12764											
CATSPER1	117144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65792685	65792685	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr11:65792685T>G	ENST00000312106.5	-	1	1303	c.1166A>C	c.(1165-1167)aAa>aCa	p.K389T		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	389					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.K389T(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TTCTGAATGTTTGGTGGAGAT	0.552																																																1	Substitution - Missense(1)	kidney(1)											138	122	127					11																	65792685		2201	4296	6497	SO:0001583	missense	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1166A>C	11.37:g.65792685T>G	ENSP00000309052:p.Lys389Thr		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960634	0.34565	.	.	ENSG00000175294	ENST00000312106	D	0.97279	-4.32	2.63	-5.26	0.02772	.	.	.	.	.	D	0.96241	0.8774	M	0.65975	2.015	0.09310	N	1	D	0.71674	0.998	P	0.60682	0.878	D	0.89742	0.3934	9	0.66056	D	0.02	-0.5077	1.0597	0.01597	0.1549:0.2387:0.3469:0.2595	.	389	Q8NEC5	CTSR1_HUMAN	T	389	ENSP00000309052:K389T	ENSP00000309052:K389T	K	-	2	0	CATSPER1	65549261	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.883000	0.04170	-1.390000	0.02087	0.377000	0.23210	AAA		0.552	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		G	65792685	T	G	65792685	3	3	210	1	0	0	0	0	1	0	0	0	2689	1841	64	5	1224	5	CATSPER1	11	65792685	Missense_Mutation	SNP	T	TCGA-B0-5693-01A-11D-1534-10	1219451	65792685	69213831	22	12765											
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103229065	103229065	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr11:103229065A>G	ENST00000375735.2	+	83	12278	c.12134A>G	c.(12133-12135)aAt>aGt	p.N4045S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N4052S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4045					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.N1485S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTGTCCTCAATCTCTGGAAG	0.408																																																1	Substitution - Missense(1)	kidney(1)											72	63	66					11																	103229065		1843	4089	5932	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12134A>G	11.37:g.103229065A>G	ENSP00000364887:p.Asn4045Ser		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	6.514	0.462988	0.12402	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621;ENST00000533197	T;T;T	0.44881	3.16;3.16;0.91	5.62	2.13	0.27403	Dynein heavy chain (1);	0.765819	0.13228	N	0.403843	T	0.24044	0.0582	N	0.12746	0.255	0.40134	D	0.976751	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.04870	-1.0921	10	0.41790	T	0.15	.	8.4061	0.32616	0.7689:0.0:0.2311:0.0	.	4045;4052	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	4045;4052;291;32	ENSP00000364887:N4045S;ENSP00000381167:N4052S;ENSP00000436736:N32S	ENSP00000364887:N4045S	N	+	2	0	DYNC2H1	102734275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.180000	0.50895	0.435000	0.26365	0.459000	0.35465	AAT		0.408	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103229065	A	G	103229065	3	3	210	1	0	0	0	0	1	0	0	0	4848	101	4	3	12489	3	DYNC2H1	11	103229065	Missense_Mutation	SNP	A	TCGA-B0-5693-01A-11D-1534-10	37436380	103229065	31777451	23	12766											
HSPA8	3312	broad.mit.edu;hgsc.bcm.edu	37	11	122931975	122931975	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr11:122931975C>G	ENST00000532636.1	-	2	177	c.58G>C	c.(58-60)Gtt>Ctt	p.V20L	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.V20L|HSPA8_ENST00000534624.1_Missense_Mutation_p.V20L|HSPA8_ENST00000227378.3_Missense_Mutation_p.V20L|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000526110.1_Missense_Mutation_p.V20L|HSPA8_ENST00000533540.1_Missense_Mutation_p.V20L			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	20					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.V20L(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGCTGGAAAACACCCACACAA	0.438																																					Colon(21;486 594 5900 6733 14272)											1	Substitution - Missense(1)	kidney(1)											67	59	62					11																	122931975		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.58G>C	11.37:g.122931975C>G	ENSP00000437125:p.Val20Leu		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421477	0.83559	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.04275	4.8;4.8;4.8;4.8;4.8;4.8;3.66;4.8;4.8;4.8;4.8;4.8;4.8	4.42	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.24699	0.0599	H	0.95079	3.62	0.80722	D	1	B;B;B;B;B	0.22003	0.063;0.062;0.007;0.002;0.062	B;B;B;B;B	0.40741	0.17;0.339;0.015;0.009;0.339	T	0.28202	-1.0051	10	0.87932	D	0	-20.9376	17.4081	0.87479	0.0:1.0:0.0:0.0	.	20;20;20;20;20	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	L	20	ENSP00000437125:V20L;ENSP00000437189:V20L;ENSP00000432083:V20L;ENSP00000404372:V20L;ENSP00000227378:V20L;ENSP00000433584:V20L;ENSP00000436762:V20L;ENSP00000435154:V20L;ENSP00000431641:V20L;ENSP00000436183:V20L;ENSP00000434415:V20L;ENSP00000434565:V20L;ENSP00000434851:V20L	ENSP00000227378:V20L	V	-	1	0	HSPA8	122437185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.079000	0.71291	2.151000	0.67156	0.484000	0.47621	GTT		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			G	122931975	C	G	122931975	3	3	210	1	0	0	0	0	1	0	0	0	7418	478	17	4	1914	4	HSPA8	11	122931975	Missense_Mutation	SNP	C	TCGA-B0-5693-01A-11D-1534-10	19702910	122931975	12074541	24	12767											
CCDC91	55297	broad.mit.edu;ucsc.edu	37	12	28636996	28636996	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr12:28636996G>T	ENST00000545336.1	+	15	1532	c.1113G>T	c.(1111-1113)aaG>aaT	p.K371N	CCDC91_ENST00000306172.5_Missense_Mutation_p.K341N|CCDC91_ENST00000381256.1_Missense_Mutation_p.K335N|CCDC91_ENST00000381259.1_Missense_Mutation_p.K371N|CCDC91_ENST00000539107.1_Missense_Mutation_p.K335N|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	371	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K371N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AAACTGTTAAGGCAGCAATAA	0.388																																																1	Substitution - Missense(1)	kidney(1)											68	72	71					12																	28636996		2203	4300	6503	SO:0001583	missense	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1113G>T	12.37:g.28636996G>T	ENSP00000438040:p.Lys371Asn		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	CCDS8716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.98|18.98	3.737717|3.737717	0.69304|0.69304	.|.	.|.	ENSG00000123106|ENSG00000123106	ENST00000536154;ENST00000539107;ENST00000545336;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212|ENST00000542801	T;T;T;T;T;T;T|.	0.55234|.	0.85;0.93;1.18;1.18;0.93;1.16;0.53|.	5.83|5.83	4.93|4.93	0.64822|0.64822	.|.	0.090217|.	0.48286|.	D|.	0.000197|.	T|T	0.33469|0.33469	0.0864|0.0864	N|N	0.24115|0.24115	0.695|0.695	0.31213|0.31213	N|N	0.698464|0.698464	B;P;P|.	0.40731|.	0.081;0.728;0.728|.	B;B;B|.	0.41988|.	0.064;0.372;0.372|.	T|T	0.22906|0.22906	-1.0203|-1.0203	10|5	0.87932|.	D|.	0|.	-6.9287|-6.9287	9.8479|9.8479	0.41039|0.41039	0.0904:0.0:0.9096:0.0|0.0904:0.0:0.9096:0.0	.|.	335;371;341|.	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2|.	.;CCD91_HUMAN;.|.	N|M	111;335;371;371;335;341;70|42	ENSP00000444440:K111N;ENSP00000440513:K335N;ENSP00000438040:K371N;ENSP00000370658:K371N;ENSP00000370655:K335N;ENSP00000305075:K341N;ENSP00000445999:K70N|.	ENSP00000305075:K341N|.	K|R	+|+	3|2	2|0	CCDC91|CCDC91	28528263|28528263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.701000|0.701000	0.25616|0.25616	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	AAG|AGG		0.388	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		T	28636996	G	T	28636996	3	4	210	1	0	0	0	0	1	0	0	0	2872	991	35	4	1155	4	CCDC91	12	28636996	Missense_Mutation	SNP	G	TCGA-B0-5693-01A-11D-1534-10		28636996	105214899	25	12768											
GJB6	10804	broad.mit.edu;hgsc.bcm.edu	37	13	20797320	20797320	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr13:20797320G>T	ENST00000356192.6	-	5	920	c.300C>A	c.(298-300)caC>caA	p.H100Q	GJB6_ENST00000241124.6_Missense_Mutation_p.H100Q|GJB6_ENST00000400065.3_Missense_Mutation_p.H100Q|GJB6_ENST00000400066.3_Missense_Mutation_p.H100Q	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	100					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)		p.H100Q(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GAGTGGTTTCGTGCCTGTAGT	0.547																																																1	Substitution - Missense(1)	kidney(1)											58	50	53					13																	20797320		2203	4300	6503	SO:0001583	missense	10804			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"Ion channels / Gap junction proteins (connexins)"	4288	protein-coding gene	gene with protein product	"connexin 30"	604418	"ectodermal dysplasia 2, hidrotic (Clouston syndrome)", "gap junction protein, beta 6 (connexin 30)", "gap junction protein, beta 6"	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.300C>A	13.37:g.20797320G>T	ENSP00000348521:p.His100Gln		B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	G	7.444	0.641263	0.14451	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99032	-5.35;-5.35;-5.35;-5.35	5.28	-10.6	0.00265	Connexin, N-terminal (1);	0.128062	0.51477	D	0.000092	D	0.96393	0.8823	M	0.78456	2.415	0.21967	N	0.999445	P	0.50066	0.931	B	0.43575	0.424	D	0.87905	0.2693	10	0.46703	T	0.11	.	2.2252	0.03982	0.4648:0.1496:0.2286:0.157	.	100	O95452	CXB6_HUMAN	Q	100	ENSP00000241124:H100Q;ENSP00000382938:H100Q;ENSP00000382939:H100Q;ENSP00000348521:H100Q	ENSP00000241124:H100Q	H	-	3	2	GJB6	19695320	0.000000	0.05858	0.008000	0.14137	0.270000	0.26580	-4.338000	0.00250	-2.330000	0.00633	-0.824000	0.03097	CAC		0.547	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			T	20797320	G	T	20797320	3	4	210	1	0	0	0	0	1	0	0	0	6414	1136	40	4	489	4	GJB6	13	20797320	Missense_Mutation	SNP	G	TCGA-B0-5693-01A-11D-1534-10		20797320	94372558	26	12769											
ACTN1	87	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	69356966	69356966	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr14:69356966T>G	ENST00000193403.6	-	11	1507	c.1124A>C	c.(1123-1125)gAg>gCg	p.E375A	ACTN1_ENST00000538545.2_Missense_Mutation_p.E375A|ACTN1_ENST00000376839.3_Missense_Mutation_p.E310A|ACTN1_ENST00000438964.2_Missense_Mutation_p.E375A|ACTN1_ENST00000394419.4_Missense_Mutation_p.E375A	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	375	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.E375A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ATAGCCCTTCTCCACCTGCTC	0.622																																																1	Substitution - Missense(1)	kidney(1)											102	84	90					14																	69356966		2203	4300	6503	SO:0001583	missense	87			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1124A>C	14.37:g.69356966T>G	ENSP00000193403:p.Glu375Ala		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.520004	0.85495	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	M	0.91872	3.25	0.80722	D	1	D;P;D;D	0.71674	0.998;0.862;0.96;0.969	D;D;D;D	0.81914	0.995;0.944;0.944;0.985	T	0.78836	-0.2047	10	0.87932	D	0	.	14.3534	0.66719	0.0:0.0:0.0:1.0	.	375;375;375;375	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	A	375;375;375;310;375	ENSP00000193403:E375A;ENSP00000377941:E375A;ENSP00000414272:E375A;ENSP00000366035:E310A;ENSP00000439828:E375A	ENSP00000193403:E375A	E	-	2	0	ACTN1	68426719	1.000000	0.71417	0.994000	0.49952	0.927000	0.56198	7.868000	0.87116	1.971000	0.57363	0.533000	0.62120	GAG		0.622	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		G	69356966	T	G	69356966	3	3	210	1	0	0	0	0	1	0	0	0	204	1551	54	5	1668	5	ACTN1	14	69356966	Missense_Mutation	SNP	T	TCGA-B0-5693-01A-11D-1534-10		69356966	37992574	27	12770											
VPS18	57617	broad.mit.edu	37	15	41191988	41191988	+	Silent	SNP	A	A	C			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr15:41191988A>C	ENST00000220509.5	+	4	1311	c.972A>C	c.(970-972)ccA>ccC	p.P324P	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	324					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)	p.P324P(2)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGGCCAGCCCACCCCTAGCCA	0.647																																																2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											64	67	66					15																	41191988		2203	4300	6503	SO:0001819	synonymous_variant	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.972A>C	15.37:g.41191988A>C			Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	CCDS10069.1																																																																																				0.647	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			C	41191988	A	C	41191988	2	2	210	1	0	0	0	0	0	0	0	1	17199	146	6	5		5	VPS18	15	41191988	Silent	SNP	A	TCGA-B0-5693-01A-11D-1534-10		41191988	61339404	28	12771											
ITGAM	3684	hgsc.bcm.edu;ucsc.edu	37	16	31309149	31309149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr16:31309149delG	ENST00000287497.8	+	14	1656	c.1581delG	c.(1579-1581)ctgfs	p.L527fs	ITGAM_ENST00000544665.3_Frame_Shift_Del_p.L528fs			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	527					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TAACAGTGCTGGGGGACGTAA	0.607																																																0													72	77	75					16																	31309149		2185	4291	6476	SO:0001589	frameshift_variant	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1581delG	16.37:g.31309149delG	ENSP00000287497:p.Leu527fs		Q4VAK0|Q4VAK1|Q4VAK2	Frame_Shift_Del	DEL	ENST00000287497.8	37	CCDS45470.1																																																																																				0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		-	31309149	G	-	31309149	7	5	210	1	0	1	0	1	0	0	0	0	7889	1335	47	0	1638	0	ITGAM	16	31309149	Frame_Shift_Del	DEL	G	TCGA-B0-5693-01A-11D-1534-10		31309149	59045604	29	12772											
ZC3H18	124245	broad.mit.edu;hgsc.bcm.edu	37	16	88688681	88688681	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr16:88688681C>A	ENST00000301011.5	+	9	1752	c.1552C>A	c.(1552-1554)Cct>Act	p.P518T	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P542T	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	518						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P518T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GTGGAAGGACCCTTGGCGCCG	0.602																																					Ovarian(121;375 2276 20373 38669)											1	Substitution - Missense(1)	kidney(1)											56	58	58					16																	88688681		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1552C>A	16.37:g.88688681C>A	ENSP00000301011:p.Pro518Thr		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487851	0.84854	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.52754	0.65;0.65	5.83	5.83	0.93111	.	0.053091	0.85682	D	0.000000	T	0.67924	0.2945	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68311	-0.5442	10	0.87932	D	0	-15.7866	19.7135	0.96105	0.0:1.0:0.0:0.0	.	542;518	E7ERS3;Q86VM9	.;ZCH18_HUMAN	T	518;486;542	ENSP00000301011:P518T;ENSP00000416951:P542T	ENSP00000289509:P486T	P	+	1	0	ZC3H18	87216182	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.321000	0.79088	2.769000	0.95229	0.655000	0.94253	CCT		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		A	88688681	C	A	88688681	3	1	210	1	0	0	0	0	1	0	0	0	17573	623	22	4	1582	4	ZC3H18	16	88688681	Missense_Mutation	SNP	C	TCGA-B0-5693-01A-11D-1534-10	57379532	88688681	1666072	30	12773											
AMAC1L3	643664	hgsc.bcm.edu	37	17	7385682	7385682	+	Missense_Mutation	SNP	G	G	A	rs143401129	byFrequency	TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr17:7385682G>A	ENST00000412468.2	+	2	494	c.379G>A	c.(379-381)Gct>Act	p.A127T	ZBTB4_ENST00000311403.4_Intron|ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	127	EamA 1.					integral component of membrane (GO:0016021)		p.A127T(1)									GGTGGTGCCCGCTGGCAACGC	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		18120	0.002		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	skin(1)											117	118	117					17																	7385682		2203	4297	6500	SO:0001583	missense	0				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.379G>A	17.37:g.7385682G>A	ENSP00000396523:p.Ala127Thr			Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	7.540	0.660468	0.14645	.	.	ENSG00000181222	ENST00000412468	T	0.61040	0.14	4.33	1.16	0.20824	.	.	.	.	.	T	0.34221	0.0890	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18209	-1.0344	9	0.15952	T	0.53	2.672	4.1386	0.10183	0.2674:0.3521:0.3805:0.0	.	127	P0C7Q6	S35G6_HUMAN	T	127	ENSP00000396523:A127T	ENSP00000396523:A127T	A	+	1	0	SLC35G6	7326406	0.000000	0.05858	0.060000	0.19600	0.581000	0.36288	-0.024000	0.12435	0.400000	0.25396	0.563000	0.77884	GCT		0.617	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		A	7385682	G	A	7385682	3	1	210	1	0	0	0	0	1	0	0	0	561	1087	38	1	385	1	AMAC1L3	17	7385682	Missense_Mutation	SNP	G	TCGA-B0-5693-01A-11D-1534-10		7385682	73809528	31	12774											
MAP2K3	5606	hgsc.bcm.edu	37	17	21215483	21215483	+	Silent	SNP	C	C	T	rs55935757	byFrequency	TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr17:21215483C>T	ENST00000342679.4	+	10	1053	c.804C>T	c.(802-804)taC>taT	p.Y268Y	MAP2K3_ENST00000316920.6_Silent_p.Y239Y|MAP2K3_ENST00000361818.5_Silent_p.Y239Y	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GGTTCCCTTACGAGTCCTGGG	0.657													C|||	40	0.00798722	0.0	0.0	5008	,	,		16127	0.0357		0.004	False		,,,				2504	0.0															0																																										SO:0001819	synonymous_variant	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.804C>T	17.37:g.21215483C>T			B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	CCDS11217.1																																																																																				0.657	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		T	21215483	C	T	21215483	2	4	210	1	0	0	0	0	0	0	0	1	9240	547	19	1		1	MAP2K3	17	21215483	Silent	SNP	C	TCGA-B0-5693-01A-11D-1534-10	13829801	21215483	59979727	32	12775											
PSMD11	5717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30806900	30806900	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr17:30806900C>T	ENST00000261712.3	+	11	1333	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	PSMD11_ENST00000457654.2_Missense_Mutation_p.S357F	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	357	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|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)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.S357F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ATCAAACTCTCCAAGGTAAGG	0.498																																					Ovarian(130;1038 1716 9294 11987 19279)											1	Substitution - Missense(1)	kidney(1)											111	101	104					17																	30806900		2203	4300	6503	SO:0001583	missense	5717			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.1070C>T	17.37:g.30806900C>T	ENSP00000261712:p.Ser357Phe		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768057	0.69878	.	.	ENSG00000108671	ENST00000261712	T	0.51817	0.69	5.38	5.38	0.77491	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.059041	0.64402	D	0.000001	T	0.59473	0.2196	M	0.72894	2.215	0.53688	D	0.999978	B	0.25850	0.136	B	0.40677	0.337	T	0.61710	-0.7007	10	0.87932	D	0	-2.9698	16.6652	0.85250	0.0:1.0:0.0:0.0	.	357	O00231	PSD11_HUMAN	F	357	ENSP00000261712:S357F	ENSP00000261712:S357F	S	+	2	0	PSMD11	27831013	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.653000	0.61462	2.786000	0.95864	0.563000	0.77884	TCC		0.498	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		T	30806900	C	T	30806900	3	4	210	1	0	0	0	0	1	0	0	0	12699	855	30	2	1112	2	PSMD11	17	30806900	Missense_Mutation	SNP	C	TCGA-B0-5693-01A-11D-1534-10	9591417	30806900	50388310	33	12776											
CDK12	51755	broad.mit.edu;hgsc.bcm.edu	37	17	37681129	37681129	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr17:37681129G>A	ENST00000447079.4	+	12	3331	c.3298G>A	c.(3298-3300)Gat>Aat	p.D1100N	CDK12_ENST00000430627.2_Missense_Mutation_p.D1100N	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1100					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.D1100N(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGGGGCTGGGGATGCAATAGG	0.517			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Missense(1)	kidney(1)											52	53	53					17																	37681129		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3298G>A	17.37:g.37681129G>A	ENSP00000398880:p.Asp1100Asn		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797025	0.31777	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.67698	-0.28;-0.27	4.98	4.98	0.66077	.	0.000000	0.44688	D	0.000421	T	0.52565	0.1742	N	0.24115	0.695	0.29262	N	0.871275	B;B;B	0.23650	0.089;0.037;0.062	B;B;B	0.24155	0.023;0.023;0.051	T	0.40608	-0.9554	10	0.18276	T	0.48	-4.5654	16.2155	0.82211	0.0:0.0:1.0:0.0	.	1099;1100;1100	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	N	1100	ENSP00000407720:D1100N;ENSP00000398880:D1100N	ENSP00000407720:D1100N	D	+	1	0	CDK12	34934655	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.779000	0.55379	2.591000	0.87537	0.563000	0.77884	GAT		0.517	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		A	37681129	G	A	37681129	3	1	210	1	0	0	0	0	1	0	0	0	3130	1174	41	2	3344	2	CDK12	17	37681129	Missense_Mutation	SNP	G	TCGA-B0-5693-01A-11D-1534-10	6874229	37681129	43514081	34	12777											
KIAA1267	284058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	44116407	44116407	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr17:44116407G>C	ENST00000262419.6	-	9	2848	c.2378C>G	c.(2377-2379)tCt>tGt	p.S793C	KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.S793C|KANSL1_ENST00000432791.1_Missense_Mutation_p.S793C|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000574590.1_Missense_Mutation_p.S793C	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	793					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S793C(1)									ACTTCTCTCAGATGAATGGTC	0.567																																																1	Substitution - Missense(1)	kidney(1)											226	190	202					17																	44116407		2203	4300	6503	SO:0001583	missense	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2378C>G	17.37:g.44116407G>C	ENSP00000262419:p.Ser793Cys		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400270	0.62177	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.12569	2.67;2.67	6.17	6.17	0.99709	.	0.170029	0.45867	D	0.000330	T	0.18718	0.0449	N	0.14661	0.345	0.80722	D	1	D;P;P	0.67145	0.996;0.91;0.91	P;P;P	0.56474	0.799;0.646;0.646	T	0.01256	-1.1404	10	0.54805	T	0.06	-10.6566	17.6123	0.88058	0.0:0.0:1.0:0.0	.	124;793;793	Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;K1267_HUMAN	C	793	ENSP00000262419:S793C;ENSP00000387393:S793C	ENSP00000262419:S793C	S	-	2	0	KIAA1267	41472254	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.370000	0.66144	2.941000	0.99782	0.655000	0.94253	TCT		0.567	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		C	44116407	G	C	44116407	3	2	210	1	0	0	0	0	1	0	0	0	8221	942	33	4	967	4	KIAA1267	17	44116407	Missense_Mutation	SNP	G	TCGA-B0-5693-01A-11D-1534-10	6435278	44116407	37078803	35	12778											
TCEB3C	162699	broad.mit.edu	37	18	44554961	44554961	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr18:44554961C>T	ENST00000330682.2	-	1	1488	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	418	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R418Q(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTCCCGAAGCCGCAGGTACAG	0.557																																																1	Substitution - Missense(1)	kidney(1)											13	13	13					18																	44554961		1332	2729	4061	SO:0001583	missense	162699			AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1253G>A	18.37:g.44554961C>T	ENSP00000328232:p.Arg418Gln			Missense_Mutation	SNP	ENST00000330682.2	37	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	18.71	3.682490	0.68157	.	.	ENSG00000183791	ENST00000330682	T	0.34472	1.36	1.52	1.52	0.23074	.	0.000000	0.46442	D	0.000282	T	0.54679	0.1873	M	0.82056	2.57	0.52501	D	0.999951	D	0.89917	1.0	D	0.72338	0.977	T	0.55062	-0.8199	10	0.36615	T	0.2	-22.4296	9.0622	0.36442	0.0:1.0:0.0:0.0	.	418	Q8NG57	ELOA3_HUMAN	Q	418	ENSP00000328232:R418Q	ENSP00000328232:R418Q	R	-	2	0	TCEB3C	42808959	0.973000	0.33851	0.504000	0.27639	0.017000	0.09413	2.791000	0.47829	1.198000	0.43158	0.485000	0.47835	CGG		0.557	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		T	44554961	C	T	44554961	3	4	210	1	0	0	0	0	1	0	0	0	15688	652	23	1	2034	1	TCEB3C	18	44554961	Missense_Mutation	SNP	C	TCGA-B0-5693-01A-11D-1534-10		44554961	33522287	36	12779											
FECH	2235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	55233773	55233773	+	Silent	SNP	A	A	G			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr18:55233773A>G	ENST00000262093.5	-	5	655	c.504T>C	c.(502-504)ccT>ccC	p.P168P	FECH_ENST00000585699.1_5'Flank|FECH_ENST00000382873.3_Silent_p.P174P	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	168					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)	p.P174P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				CTTCTGTTAAAGGATGGACGT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											189	153	165					18																	55233773		2203	4300	6503	SO:0001819	synonymous_variant	2235			D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"protoporphyria"	612386	"ferrochelatase (protoporphyria)"			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.504T>C	18.37:g.55233773A>G			A8KA72|Q8IXN1|Q8NAN0	Silent	SNP	ENST00000262093.5	37	CCDS11964.1																																																																																				0.428	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			G	55233773	A	G	55233773	2	3	210	1	0	0	0	0	0	0	0	1	5810	59	3	3		3	FECH	18	55233773	Silent	SNP	A	TCGA-B0-5693-01A-11D-1534-10	10678812	55233773	22843475	37	12780											
CPXM1	56265	broad.mit.edu	37	20	2779142	2779142	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chr20:2779142T>C	ENST00000380605.2	-	3	446	c.382A>G	c.(382-384)Agc>Ggc	p.S128G		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	128	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S128G(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCAAGCCGGCTATCTGAAACT	0.602																																																1	Substitution - Missense(1)	kidney(1)											56	56	56					20																	2779142		2203	4300	6503	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.382A>G	20.37:g.2779142T>C	ENSP00000369979:p.Ser128Gly		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	T	1.644	-0.515704	0.04200	.	.	ENSG00000088882	ENST00000380605	D	0.99051	-5.37	4.6	-0.622	0.11560	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.994225	0.08175	N	0.986453	D	0.95884	0.8660	L	0.48362	1.52	0.20403	N	0.999909	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	D	0.88609	0.3155	10	0.13853	T	0.58	-1.5627	0.1085	0.00054	0.3137:0.1857:0.1616:0.3389	.	128;128	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	G	128	ENSP00000369979:S128G	ENSP00000369979:S128G	S	-	1	0	CPXM1	2727142	0.000000	0.05858	0.866000	0.34008	0.391000	0.30476	-0.951000	0.03885	-0.038000	0.13624	-0.490000	0.04691	AGC		0.602	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		C	2779142	T	C	2779142	3	2	210	1	0	0	0	0	1	0	0	0	3839	1522	53	3	1870	3	CPXM1	20	2779142	Missense_Mutation	SNP	T	TCGA-B0-5693-01A-11D-1534-10		2779142	60246378	38	12781											
PCDH19	57526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	99551562	99551562	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chrX:99551562delC	ENST00000373034.4	-	6	4835	c.3160delG	c.(3160-3162)gagfs	p.E1054fs	PCDH19_ENST00000255531.7_Frame_Shift_Del_p.E1007fs|PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.E1006fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1054					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTGCCTGCCTCCCGGATAACG	0.597																																																0													53	55	54					X																	99551562		2142	4234	6376	SO:0001589	frameshift_variant	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3160delG	X.37:g.99551562delC	ENSP00000362125:p.Glu1054fs		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	ENST00000373034.4	37	CCDS55462.1																																																																																				0.597	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		-	99551562	C	-	99551562	7	5	210	1	0	1	0	1	0	0	0	0	11516	864	30	0	290	0	PCDH19	23	99551562	Frame_Shift_Del	DEL	C	TCGA-B0-5693-01A-11D-1534-10		99551562	55718998	39	12782											
PNMA5	114824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	152159503	152159503	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5693-01A-11D-1534-10	TCGA-B0-5693-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be92ee16-6288-46c0-aaa7-7a27020cd7ca	51df4667-989b-4611-b869-3d8046d76232	g.chrX:152159503C>T	ENST00000439251.1	-	2	1078	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	PNMA5_ENST00000535214.1_Missense_Mutation_p.V214M|PNMA5_ENST00000452693.1_Missense_Mutation_p.V214M|PNMA5_ENST00000361887.5_Missense_Mutation_p.V214M	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	214					positive regulation of apoptotic process (GO:0043065)			p.V214M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGAGCACCCGCATGATT	0.527																																																1	Substitution - Missense(1)	kidney(1)											76	71	73					X																	152159503		2203	4300	6503	SO:0001583	missense	114824			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.640G>A	X.37:g.152159503C>T	ENSP00000388850:p.Val214Met		B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	C	9.644	1.139760	0.21205	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	3.29	1.45	0.22620	.	.	.	.	.	T	0.07773	0.0195	L	0.31065	0.9	0.09310	N	1	B	0.19706	0.038	B	0.27170	0.077	T	0.40608	-0.9554	9	0.32370	T	0.25	.	4.1368	0.10174	0.0:0.6231:0.2359:0.141	.	214	Q96PV4	PNMA5_HUMAN	M	214	ENSP00000354834:V214M;ENSP00000445775:V214M;ENSP00000388850:V214M;ENSP00000392342:V214M	ENSP00000354834:V214M	V	-	1	0	PNMA5	151910159	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	0.225000	0.17757	0.265000	0.21872	-0.497000	0.04613	GTG		0.527	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		T	152159503	C	T	152159503	3	4	210	1	0	0	0	0	1	0	0	0	12158	507	18	2	710	2	PNMA5	23	152159503	Missense_Mutation	SNP	C	TCGA-B0-5693-01A-11D-1534-10	52607941	152159503	3111057	40	12783											
CLCNKA	1187	broad.mit.edu;hgsc.bcm.edu	37	1	16353083	16353083	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr1:16353083G>A	ENST00000331433.4	+	6	570	c.551G>A	c.(550-552)cGc>cAc	p.R184H	CLCNKA_ENST00000420078.1_Missense_Mutation_p.R184H|CLCNKA_ENST00000375692.1_Missense_Mutation_p.R184H|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R141H			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	184					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.R184H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGCCGTGTGCGCACCACGACC	0.642																																																1	Substitution - Missense(1)	kidney(1)											78	69	72					1																	16353083		2203	4300	6503	SO:0001583	missense	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.551G>A	1.37:g.16353083G>A	ENSP00000332771:p.Arg184His		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329100	0.24167	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	3.19	2.26	0.28386	Chloride channel, core (2);	0.352028	0.30302	N	0.009933	D	0.85600	0.5734	L	0.52364	1.645	0.29722	N	0.838577	B;B;B	0.16603	0.018;0.018;0.018	B;B;B	0.18561	0.022;0.022;0.022	T	0.71351	-0.4619	10	0.15066	T	0.55	.	5.251	0.15522	0.1103:0.0:0.689:0.2007	.	141;184;184	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	H	184;184;141;184	ENSP00000364844:R184H;ENSP00000410353:R184H;ENSP00000414445:R141H;ENSP00000332771:R184H	ENSP00000332771:R184H	R	+	2	0	CLCNKA	16225670	0.822000	0.29219	0.916000	0.36221	0.308000	0.27856	1.181000	0.32017	0.674000	0.31244	0.305000	0.20034	CGC		0.642	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			A	16353083	G	A	16353083	3	1	211	1	0	0	0	0	1	0	0	0	3471	1087	38	1	569	1	CLCNKA	1	16353083	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10		16353083	232897538	1	12784											
MEAF6	64769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	37975131	37975131	+	Silent	SNP	G	G	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr1:37975131G>A	ENST00000296214.5	-	3	246	c.219C>T	c.(217-219)agC>agT	p.S73S	MEAF6_ENST00000373075.2_Silent_p.S73S|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000373074.1_Silent_p.S51S|MEAF6_ENST00000448519.2_Silent_p.S73S|MEAF6_ENST00000373073.4_Silent_p.S73S	NM_001270875.1	NP_001257804.1	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	73					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S73S(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						GATCATTTTTGCTATTGGAGT	0.473																																																1	Substitution - coding silent(1)	kidney(1)											142	141	142					1																	37975131		2203	4300	6503	SO:0001819	synonymous_variant	64769			BC016328	CCDS418.1, CCDS59195.1, CCDS59196.1	1p35.3-p33	2011-08-12	2009-07-13	2009-07-13	ENSG00000163875	ENSG00000163875			25674	protein-coding gene	gene with protein product	"Esa1p-associated factor 6 homolog (S. cerevisiae)", "centromere protein 28"	611001	"chromosome 1 open reading frame 149"	C1orf149		8619474, 9110174, 12963728, 14966270, 16387653	Standard	NM_022756		Approved	NY-SAR-91, FLJ11730, Eaf6, CENP-28	uc001cbe.2	Q9HAF1	OTTHUMG00000004223	ENST00000296214.5:c.219C>T	1.37:g.37975131G>A			B1AK64|Q4F967|Q7Z311|Q86WE3	Silent	SNP	ENST00000296214.5	37	CCDS59196.1																																																																																				0.473	MEAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012161.1	NM_022756		A	37975131	G	A	37975131	2	1	211	1	0	0	0	0	0	0	0	1	9423	1310	46	2		2	MEAF6	1	37975131	Silent	SNP	G	TCGA-B0-5694-01A-11D-1534-10	21622048	37975131	211275490	2	12785											
SELENBP1	8991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151342244	151342244	+	Splice_Site	SNP	A	A	C			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr1:151342244A>C	ENST00000368868.5	-	2	97	c.6T>G	c.(4-6)gcT>gcG	p.A2A	SELENBP1_ENST00000426705.2_Silent_p.A44A|SELENBP1_ENST00000447402.3_Splice_Site_p.A2A|SELENBP1_ENST00000435071.1_5'UTR|SELENBP1_ENST00000473693.1_5'UTR	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	2					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.A2A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACATTTCGTAGCTGTGGAAG	0.607																																																1	Substitution - coding silent(1)	kidney(1)											53	44	47					1																	151342244		2142	4151	6293	SO:0001630	splice_region_variant	8991			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.5-1T>G	1.37:g.151342244A>C			A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	CCDS995.1	.	.	.	.	.	.	.	.	.	.	A	9.580	1.123296	0.20959	.	.	ENSG00000143416	ENST00000424475	.	.	.	4.56	-1.15	0.09709	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.51767	D	0.999939	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	-1.3796	1.2893	0.02057	0.3326:0.1602:0.35:0.1573	.	.	.	.	R	25	.	.	L	-	2	0	SELENBP1	149608868	0.007000	0.16637	0.100000	0.21137	0.244000	0.25665	-0.784000	0.04633	-0.216000	0.10048	0.379000	0.24179	CTA		0.607	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4		Silent	C	151342244	A	C	151342244	5	2	211	1	0	0	0	0	0	0	1	0	14020	434	15	5	1456	5	SELENBP1	1	151342244	Splice_Site	SNP	A	TCGA-B0-5694-01A-11D-1534-10	113367113	151342244	97908377	3	12786											
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	185984500	185984500	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr1:185984500G>C	ENST00000271588.4	+	31	5069	c.4840G>C	c.(4840-4842)Gca>Cca	p.A1614P	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1614P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1614	Ig-like C2-type 13.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A1614P(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCTGATTCAGCAACATATAC	0.398																																																1	Substitution - Missense(1)	kidney(1)											102	99	100					1																	185984500		2203	4299	6502	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4840G>C	1.37:g.185984500G>C	ENSP00000271588:p.Ala1614Pro		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733224	0.69189	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67865	-0.29;-0.29	5.5	3.58	0.41010	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.159977	0.53938	D	0.000050	T	0.80824	0.4697	M	0.76002	2.32	0.32325	N	0.561873	D	0.89917	1.0	D	0.91635	0.999	D	0.85687	0.1304	10	0.87932	D	0	.	14.8783	0.70513	0.0:0.0:0.7373:0.2627	.	1614	Q96RW7	HMCN1_HUMAN	P	1614	ENSP00000271588:A1614P;ENSP00000356462:A1614P	ENSP00000271588:A1614P	A	+	1	0	HMCN1	184251123	1.000000	0.71417	0.970000	0.41538	0.850000	0.48378	5.853000	0.69496	0.759000	0.33084	-0.188000	0.12872	GCA		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	185984500	G	C	185984500	3	2	211	1	0	0	0	0	1	0	0	0	7222	971	34	4	4962	4	HMCN1	1	185984500	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	34642256	185984500	63266121	4	12787											
TLR5	7100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223285445	223285445	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr1:223285445G>A	ENST00000540964.1	-	4	1390	c.929C>T	c.(928-930)aCa>aTa	p.T310I	TLR5_ENST00000342210.6_Missense_Mutation_p.T310I			O60602	TLR5_HUMAN	toll-like receptor 5	310					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.T310I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		ATCCTTGAGTGTCTCAAAGAC	0.443																																																1	Substitution - Missense(1)	kidney(1)											85	84	84					1																	223285445		2203	4300	6503	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.929C>T	1.37:g.223285445G>A	ENSP00000440643:p.Thr310Ile		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	5.494	0.276064	0.10403	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.24538	1.85;1.85;1.85	5.27	1.2	0.21068	.	0.832928	0.11066	N	0.603429	T	0.16300	0.0392	L	0.29908	0.895	0.09310	N	1	B	0.22003	0.063	B	0.27170	0.077	T	0.33163	-0.9879	10	0.41790	T	0.15	.	1.9186	0.03302	0.1496:0.2959:0.3317:0.2227	.	310	O60602	TLR5_HUMAN	I	310	ENSP00000440643:T310I;ENSP00000355846:T310I;ENSP00000340089:T310I	ENSP00000340089:T310I	T	-	2	0	TLR5	221352068	0.000000	0.05858	0.009000	0.14445	0.260000	0.26232	0.739000	0.26173	-0.035000	0.13691	-0.150000	0.13652	ACA		0.443	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		A	223285445	G	A	223285445	3	1	211	1	0	0	0	0	1	0	0	0	15959	1377	48	2	1651	2	TLR5	1	223285445	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	37300945	223285445	25965176	5	12788											
OTOF	9381	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	26698883	26698883	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr2:26698883C>A	ENST00000272371.2	-	24	3016	c.2890G>T	c.(2890-2892)Gcg>Tcg	p.A964S	OTOF_ENST00000402415.3_Missense_Mutation_p.A274S|OTOF_ENST00000403946.3_Missense_Mutation_p.A964S|OTOF_ENST00000338581.6_Missense_Mutation_p.A217S|OTOF_ENST00000339598.3_Missense_Mutation_p.A217S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	964	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.		A -> E (in AUNB1). {ECO:0000269|PubMed:18381613}.		membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.A217S(1)|p.A274S(1)|p.A964S(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACATGTGCGCTCGGAGCTGG	0.642																																					GBM(102;732 1451 20652 24062 31372)											3	Substitution - Missense(3)	kidney(3)											42	38	40					2																	26698883		2201	4298	6499	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2890G>T	2.37:g.26698883C>A	ENSP00000272371:p.Ala964Ser		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245146	0.95272	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.41	5.41	0.78517	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.046345	0.85682	D	0.000000	D	0.83362	0.5238	M	0.84846	2.72	0.80722	D	1	D;D;D;P	0.69078	0.975;0.997;0.995;0.915	P;D;P;P	0.66497	0.842;0.944;0.886;0.773	D	0.85426	0.1146	10	0.59425	D	0.04	-36.0976	18.7824	0.91939	0.0:1.0:0.0:0.0	.	964;217;274;217	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	S	217;217;274;964;964	ENSP00000345137:A217S;ENSP00000344521:A217S;ENSP00000383906:A274S;ENSP00000272371:A964S;ENSP00000385255:A964S	ENSP00000272371:A964S	A	-	1	0	OTOF	26552387	0.993000	0.37304	0.824000	0.32777	0.972000	0.66771	4.803000	0.62546	2.546000	0.85860	0.561000	0.74099	GCG		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26698883	C	A	26698883	3	1	211	1	0	0	0	0	1	0	0	0	11305	797	28	4	3380	4	OTOF	2	26698883	Missense_Mutation	SNP	C	TCGA-B0-5694-01A-11D-1534-10		26698883	216500490	6	12789											
ALK	238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29917822	29917822	+	Missense_Mutation	SNP	G	G	C	rs56116528	byFrequency	TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr2:29917822G>C	ENST00000389048.3	-	3	1752	c.846C>G	c.(844-846)gaC>gaG	p.D282E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	282	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D282E(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGTTCCTGAGGTCATGCAGTG	0.572			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	1	Substitution - Missense(1)	kidney(1)											99	96	97					2																	29917822		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.846C>G	2.37:g.29917822G>C	ENSP00000373700:p.Asp282Glu		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	9.548	1.115282	0.20795	.	.	ENSG00000171094	ENST00000389048	T	0.02631	4.22	5.97	-1.07	0.09968	Concanavalin A-like lectin/glucanase (1);MAM domain (1);	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.49031	-0.8981	8	.	.	.	.	1.9603	0.03385	0.1588:0.1158:0.2758:0.4497	.	282	Q9UM73	ALK_HUMAN	E	282	ENSP00000373700:D282E	.	D	-	3	2	ALK	29771326	0.015000	0.18098	0.001000	0.08648	0.281000	0.26958	0.088000	0.14979	-0.092000	0.12417	-0.126000	0.14955	GAC		0.572	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		C	29917822	G	C	29917822	3	2	211	1	0	0	0	0	1	0	0	0	525	1252	44	4	4124	4	ALK	2	29917822	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	3218939	29917822	213281551	7	12790											
MXD1	4084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	70148882	70148882	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr2:70148882delA	ENST00000264444.2	+	3	448	c.188delA	c.(187-189)gaafs	p.E63fs	MXD1_ENST00000540449.1_Intron	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	63	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						ACTCACAATGAAATGGAGAAG	0.373																																																0													107	96	100					2																	70148882		2203	4300	6503	SO:0001589	frameshift_variant	4084				CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.188delA	2.37:g.70148882delA	ENSP00000264444:p.Glu63fs		B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Frame_Shift_Del	DEL	ENST00000264444.2	37	CCDS1896.1																																																																																				0.373	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357		-	70148882	A	-	70148882	7	5	211	1	0	1	0	1	0	0	0	0	10001	246	9	0	198	0	MXD1	2	70148882	Frame_Shift_Del	DEL	A	TCGA-B0-5694-01A-11D-1534-10	40231060	70148882	173050491	8	12791											
SLC35F5	80255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	114500419	114500419	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr2:114500419C>A	ENST00000245680.2	-	7	1013	c.600G>T	c.(598-600)atG>atT	p.M200I	SLC35F5_ENST00000409342.1_Missense_Mutation_p.M194I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	200					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.M200I(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GTCGAATCTCCATGATATTAC	0.388																																																1	Substitution - Missense(1)	kidney(1)											129	119	122					2																	114500419		2203	4300	6503	SO:0001583	missense	80255			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.600G>T	2.37:g.114500419C>A	ENSP00000245680:p.Met200Ile		Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735372	0.69189	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.45276	0.9;0.91	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	L	0.38175	1.15	0.58432	D	0.999994	D;P;P	0.59357	0.985;0.885;0.779	P;P;B	0.48795	0.543;0.59;0.262	T	0.08472	-1.0720	10	0.19590	T	0.45	-16.6553	18.9114	0.92487	0.0:1.0:0.0:0.0	.	200;194;200	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	I	200;194;194	ENSP00000245680:M200I;ENSP00000386754:M194I	ENSP00000245680:M200I	M	-	3	0	SLC35F5	114216889	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.010000	0.76353	2.772000	0.95346	0.655000	0.94253	ATG		0.388	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		A	114500419	C	A	114500419	3	1	211	1	0	0	0	0	1	0	0	0	14598	594	21	4	1007	4	SLC35F5	2	114500419	Missense_Mutation	SNP	C	TCGA-B0-5694-01A-11D-1534-10	44351537	114500419	128698954	9	12792											
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	167760331	167760331	+	Silent	SNP	C	C	T	rs377273154		TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr2:167760331C>T	ENST00000409728.1	+	2	428	c.339C>T	c.(337-339)gcC>gcT	p.A113A	XIRP2_ENST00000420519.1_Silent_p.A113A|XIRP2_ENST00000409043.1_Silent_p.A113A|XIRP2_ENST00000295237.9_Silent_p.A113A|XIRP2_ENST00000409195.1_Silent_p.A113A|XIRP2_ENST00000409756.2_Silent_p.A113A	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.A113A(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTCCATTGCCCTTGATGAGC	0.498																																																2	Substitution - coding silent(2)	kidney(2)						C	,,	0,4032		0,0,2016	125	128	127		339,339,339	2.4	0.9	2		127	1,8331		0,1,4165	no	coding-synonymous,coding-synonymous,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_152381.5	,,	0,1,6181	TT,TC,CC		0.012,0.0,0.0081	,,	113/939,113/972,113/3550	167760331	1,12363	2016	4166	6182	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.339C>T	2.37:g.167760331C>T			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	CCDS56143.1																																																																																				0.498	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		T	167760331	C	T	167760331	2	4	211	1	0	0	0	0	0	0	0	1	17435	610	22	2		2	XIRP2	2	167760331	Silent	SNP	C	TCGA-B0-5694-01A-11D-1534-10	53259912	167760331	75439042	10	12793											
FKBP7	51661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179341870	179341870	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr2:179341870T>G	ENST00000424785.2	-	2	350	c.292A>C	c.(292-294)Att>Ctt	p.I98L	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.I98L	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	98	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.I98L(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GTCATAGCAATGTCTAGGCCT	0.393																																					Melanoma(26;682 927 5286 17599 46613)											1	Substitution - Missense(1)	kidney(1)											92	92	92					2																	179341870		2203	4300	6503	SO:0001583	missense	51661			AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"EF-hand domain containing"	3723	protein-coding gene	gene with protein product		607062	"FK506-binding protein 7"			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.292A>C	2.37:g.179341870T>G	ENSP00000413152:p.Ile98Leu		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.358578	0.61403	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	D;D	0.85556	-2.0;-2.0	5.82	5.82	0.92795	.	0.217467	0.53938	D	0.000057	T	0.78201	0.4246	N	0.21448	0.665	0.49389	D	0.999787	P;B;B	0.35551	0.509;0.131;0.009	B;B;B	0.37091	0.241;0.033;0.019	T	0.76675	-0.2872	10	0.29301	T	0.29	-29.3586	16.19	0.81981	0.0:0.0:0.0:1.0	.	98;98;98	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	L	98	ENSP00000413152:I98L;ENSP00000415486:I98L	ENSP00000233092:I98L	I	-	1	0	FKBP7	179050116	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.896000	0.56266	2.225000	0.72522	0.460000	0.39030	ATT		0.393	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		G	179341870	T	G	179341870	3	3	211	1	0	0	0	0	1	0	0	0	5915	1464	51	5	388	5	FKBP7	2	179341870	Missense_Mutation	SNP	T	TCGA-B0-5694-01A-11D-1534-10	11581539	179341870	63857503	11	12794											
ATIC	471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	216184411	216184411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr2:216184411G>T	ENST00000236959.9	+	4	573	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	ATIC_ENST00000435675.1_Nonsense_Mutation_p.E82*|ATIC_ENST00000540518.1_Nonsense_Mutation_p.E24*	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	83					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.E83*(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	TAATATTCCAGAAGATAATGC	0.323			T	ALK	ALCL																																		Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	1	Substitution - Nonsense(1)	kidney(1)											78	80	80					2																	216184411		2203	4300	6503	SO:0001587	stop_gained	471				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.247G>T	2.37:g.216184411G>T	ENSP00000236959:p.Glu83*		A8K202|E9PBU3|Q13856|Q53S28	Nonsense_Mutation	SNP	ENST00000236959.9	37	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	G	40	8.073581	0.98640	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	.	.	.	5.61	5.61	0.85477	.	0.284451	0.39834	N	0.001246	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-9.2783	15.6137	0.76748	0.0:0.1377:0.8623:0.0	.	.	.	.	X	83;24;82;24	.	ENSP00000236959:E83X	E	+	1	0	ATIC	215892656	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.395000	0.52558	2.657000	0.90304	0.655000	0.94253	GAA		0.323	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		T	216184411	G	T	216184411	4	4	211	1	0	0	0	0	0	1	0	0	1105	943	33	4	261	4	ATIC	2	216184411	Nonsense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	36842541	216184411	27014962	12	12795											
XIRP1	165904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	39229862	39229862	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr3:39229862C>T	ENST00000340369.3	-	2	1303	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G359R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	359					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.G359R(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTTCGTCCCCCTTCAGAGTG	0.587																																																1	Substitution - Missense(1)	kidney(1)											94	103	100					3																	39229862		2203	4300	6503	SO:0001583	missense	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1075G>A	3.37:g.39229862C>T	ENSP00000343140:p.Gly359Arg		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707587	0.68615	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.06218	3.33;3.7	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	T	0.01484	-1.1343	10	0.87932	D	0	.	9.5717	0.39431	0.0:0.904:0.0:0.096	.	359;359	Q702N8;Q702N8-2	XIRP1_HUMAN;.	R	359	ENSP00000379550:G359R;ENSP00000343140:G359R	ENSP00000343140:G359R	G	-	1	0	XIRP1	39204866	1.000000	0.71417	0.966000	0.40874	0.891000	0.51852	4.643000	0.61390	2.442000	0.82660	0.655000	0.94253	GGG		0.587	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		T	39229862	C	T	39229862	3	4	211	1	0	0	0	0	1	0	0	0	17434	623	22	2	4460	2	XIRP1	3	39229862	Missense_Mutation	SNP	C	TCGA-B0-5694-01A-11D-1534-10		39229862	158792568	13	12796											
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52692235	52692235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr3:52692235G>A	ENST00000296302.7	-	5	626	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q209*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q209*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q209*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q209*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q209*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q209*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q209*			Q86U86	PB1_HUMAN	polybromo 1	209	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q209*(6)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCAGTTTCTGAAAAAGTTCG	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											93	92	92					3																	52692235		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.625C>T	3.37:g.52692235G>A	ENSP00000296302:p.Gln209*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.691022	0.96793	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-0.8984	18.8333	0.92150	0.0:0.0:1.0:0.0	.	.	.	.	X	209;209;209;209;209;209;209;209;209;153;209	.	ENSP00000296302:Q209X	Q	-	1	0	PBRM1	52667275	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.312000	0.96287	2.447000	0.82792	0.644000	0.83932	CAG		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52692235	G	A	52692235	4	1	211	1	0	0	0	0	0	1	0	0	11493	1299	45	2	4379	2	PBRM1	3	52692235	Nonsense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	13462373	52692235	145330195	14	12797											
NMNAT3	349565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	139279898	139279898	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr3:139279898G>T	ENST00000296202.7	-	6	1094	c.713C>A	c.(712-714)aCc>aAc	p.T238N	NMNAT3_ENST00000339837.5_Missense_Mutation_p.T201N|NMNAT3_ENST00000406164.1_Missense_Mutation_p.T201N|NMNAT3_ENST00000511444.1_3'UTR|NMNAT3_ENST00000413939.2_Missense_Mutation_p.T149N|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000406824.1_Missense_Mutation_p.T128N|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000507242.1_5'Flank			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	238					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.T201N(1)|p.T149N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GCCTTTCCAGGTACTGCCCTT	0.582																																																2	Substitution - Missense(2)	kidney(2)											212	175	188					3																	139279898		2203	4300	6503	SO:0001583	missense	349565			AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.713C>A	3.37:g.139279898G>T	ENSP00000296202:p.Thr238Asn		B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Missense_Mutation	SNP	ENST00000296202.7	37		.	.	.	.	.	.	.	.	.	.	G	12.80	2.045551	0.36085	.	.	ENSG00000163864	ENST00000406164;ENST00000406824;ENST00000339837;ENST00000413939;ENST00000296202	D;D;D;D;D	0.97752	-4.2;-4.52;-4.2;-4.52;-4.42	4.82	3.87	0.44632	.	1.422500	0.04039	N	0.302836	D	0.95220	0.8450	L	0.32530	0.975	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.12837	0.008;0.006	D	0.86130	0.1574	10	0.30078	T	0.28	-4.9701	9.84	0.40993	0.0:0.0:0.7957:0.2043	.	149;238	B3KVR6;Q96T66	.;NMNA3_HUMAN	N	201;128;201;149;238	ENSP00000384319:T201N;ENSP00000384684:T128N;ENSP00000340523:T201N;ENSP00000412953:T149N;ENSP00000296202:T238N	ENSP00000296202:T238N	T	-	2	0	NMNAT3	140762588	0.584000	0.26766	0.231000	0.23993	0.168000	0.22595	2.017000	0.40981	2.399000	0.81585	0.655000	0.94253	ACC		0.582	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177		T	139279898	G	T	139279898	3	4	211	1	0	0	0	0	1	0	0	0	10502	1261	44	4	49	4	NMNAT3	3	139279898	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	86587663	139279898	58742532	15	12798											
EIF4A2	1974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186505633	186505633	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr3:186505633T>G	ENST00000323963.5	+	10	1105	c.1041T>G	c.(1039-1041)aaT>aaG	p.N347K	SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363450.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.N348K|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.N252K			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	347	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.N347K(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGGTTATAAATTATGATCTAC	0.353			T	BCL6	NHL																																		Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	1	Substitution - Missense(1)	kidney(1)											82	84	83					3																	186505633		2203	4299	6502	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1041T>G	3.37:g.186505633T>G	ENSP00000326381:p.Asn347Lys		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739682	0.69304	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.05717	3.4;3.4;3.4	5.43	2.6	0.31112	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	H	0.99464	4.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.47898	-0.9081	10	0.87932	D	0	-2.5463	7.5881	0.28004	0.0:0.6385:0.0:0.3615	.	252;348;347	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	K	347;348;252	ENSP00000326381:N347K;ENSP00000398370:N348K;ENSP00000348925:N252K	ENSP00000326381:N347K	N	+	3	2	EIF4A2	187988327	0.990000	0.36364	1.000000	0.80357	0.951000	0.60555	0.306000	0.19279	0.761000	0.33130	-0.468000	0.05107	AAT		0.353	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		G	186505633	T	G	186505633	3	3	211	1	0	0	0	0	1	0	0	0	5027	1490	52	5	1079	5	EIF4A2	3	186505633	Missense_Mutation	SNP	T	TCGA-B0-5694-01A-11D-1534-10	47225735	186505633	11516797	16	12799											
TMEM44	93109	broad.mit.edu	37	3	194338403	194338403	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr3:194338403G>C	ENST00000392432.2	-	6	920	c.715C>G	c.(715-717)Cga>Gga	p.R239G	TMEM44_ENST00000273580.7_Intron|TMEM44_ENST00000473092.1_Intron|TMEM44_ENST00000381975.3_Intron|TMEM44_ENST00000347147.4_Intron	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	239						integral component of membrane (GO:0016021)		p.R239G(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		gcagcggctcgccaatgtccg	0.592																																																1	Substitution - Missense(1)	kidney(1)											33	46	42					3																	194338403		692	1591	2283	SO:0001583	missense	93109			AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.715C>G	3.37:g.194338403G>C	ENSP00000376227:p.Arg239Gly		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Missense_Mutation	SNP	ENST00000392432.2	37	CCDS54699.1	.	.	.	.	.	.	.	.	.	.	G	1.400	-0.578387	0.03854	.	.	ENSG00000145014	ENST00000392432	T	0.23950	1.88	2.03	-3.59	0.04583	.	.	.	.	.	T	0.09774	0.0240	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29971	-0.9994	9	0.23891	T	0.37	.	4.612	0.12408	0.3767:0.181:0.4423:0.0	.	239	Q2T9K0	TMM44_HUMAN	G	239	ENSP00000376227:R239G	ENSP00000376227:R239G	R	-	1	2	TMEM44	195819692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.153000	0.01287	-1.167000	0.02779	-3.145000	0.00059	CGA		0.592	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		C	194338403	G	C	194338403	3	2	211	1	0	0	0	0	1	0	0	0	16173	1095	38	4	770	4	TMEM44	3	194338403	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	7832770	194338403	3684027	17	12800											
HHIP	64399	broad.mit.edu	37	4	145568088	145568088	+	Silent	SNP	A	A	C			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr4:145568088A>C	ENST00000296575.3	+	1	916	c.261A>C	c.(259-261)ctA>ctC	p.L87L	HHIP-AS1_ENST00000512359.1_RNA|HHIP-AS1_ENST00000508269.1_RNA|HHIP-AS1_ENST00000503066.1_RNA|HHIP_ENST00000434550.2_Silent_p.L87L	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	87					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.L87L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCCCGGGGCTAGGGCGCCTGG	0.632																																																1	Substitution - coding silent(1)	kidney(1)											44	48	47					4																	145568088		2203	4300	6503	SO:0001819	synonymous_variant	64399			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.261A>C	4.37:g.145568088A>C			Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	37	CCDS3762.1																																																																																				0.632	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			C	145568088	A	C	145568088	2	2	211	1	0	0	0	0	0	0	0	1	7094	407	15	5		5	HHIP	4	145568088	Silent	SNP	A	TCGA-B0-5694-01A-11D-1534-10		145568088	45586188	18	12801											
SFRS12	140890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	65465917	65465917	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr5:65465917A>T	ENST00000380918.3	+	9	1352	c.692A>T	c.(691-693)gAc>gTc	p.D231V	SREK1_ENST00000334121.6_Missense_Mutation_p.D347V|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	231	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D231V(1)|p.D347V(1)		breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AGACAGAAAGACAGACGTAGA	0.348																																					GBM(10;31 347 27684 38976 41583)											2	Substitution - Missense(2)	kidney(2)											47	46	47					5																	65465917		2203	4300	6503	SO:0001583	missense	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"RNA binding motif (RRM) containing"	17882	protein-coding gene	gene with protein product	"serine-arginine-rich splicing regulatory protein 508"	609268	"splicing factor, arginine/serine-rich 12"	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.692A>T	5.37:g.65465917A>T	ENSP00000370305:p.Asp231Val		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.500885	0.64298	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.11063	2.81;2.81	5.52	5.52	0.82312	.	0.432388	0.27306	N	0.019974	T	0.16171	0.0389	L	0.46157	1.445	0.80722	D	1	P;P;P	0.51791	0.89;0.89;0.948	B;B;P	0.46850	0.419;0.419;0.529	T	0.00690	-1.1608	10	0.49607	T	0.09	.	15.6198	0.76796	1.0:0.0:0.0:0.0	.	231;231;347	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	V	347;347;231	ENSP00000334538:D347V;ENSP00000370305:D231V	ENSP00000334538:D347V	D	+	2	0	SREK1	65501673	1.000000	0.71417	0.981000	0.43875	0.906000	0.53458	7.103000	0.77014	2.086000	0.62901	0.477000	0.44152	GAC		0.348	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		T	65465917	A	T	65465917	3	4	211	1	0	0	0	0	1	0	0	0	14173	275	10	5	1070	5	SFRS12	5	65465917	Missense_Mutation	SNP	A	TCGA-B0-5694-01A-11D-1534-10		65465917	115449343	19	12802											
FAM81B	153643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	94783997	94783997	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr5:94783997G>C	ENST00000283357.5	+	9	1100	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	352						nucleus (GO:0005634)		p.E352Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TAAAATGGAAGAAAAACTGCT	0.294																																																1	Substitution - Missense(1)	kidney(1)											54	49	51					5																	94783997		1802	4070	5872	SO:0001583	missense	153643				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.1054G>C	5.37:g.94783997G>C	ENSP00000283357:p.Glu352Gln			Missense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949011	0.53186	.	.	ENSG00000153347	ENST00000283357;ENST00000512365	T	0.21031	2.03	5.63	4.75	0.60458	.	0.282543	0.34676	N	0.003769	T	0.39009	0.1062	L	0.59436	1.845	0.22639	N	0.998907	D	0.67145	0.996	D	0.63793	0.918	T	0.10753	-1.0616	10	0.49607	T	0.09	-16.0692	13.8603	0.63557	0.076:0.0:0.924:0.0	.	352	Q96LP2	FA81B_HUMAN	Q	352;27	ENSP00000283357:E352Q	ENSP00000283357:E352Q	E	+	1	0	FAM81B	94809753	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.755000	0.47540	2.660000	0.90430	0.558000	0.71614	GAA		0.294	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		C	94783997	G	C	94783997	3	2	211	1	0	0	0	0	1	0	0	0	5631	943	33	4	1088	4	FAM81B	5	94783997	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	29318080	94783997	86131263	20	12803											
ZNF608	57507	broad.mit.edu	37	5	124079966	124079966	+	Silent	SNP	C	C	G			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr5:124079966C>G	ENST00000306315.5	-	1	1152	c.717G>C	c.(715-717)ggG>ggC	p.G239G	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	239							metal ion binding (GO:0046872)	p.G239G(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGCTCTTGGCCCCAAAGCCAT	0.647																																																1	Substitution - coding silent(1)	kidney(1)											41	48	46					5																	124079966		2202	4297	6499	SO:0001819	synonymous_variant	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.717G>C	5.37:g.124079966C>G			A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	CCDS34219.1																																																																																				0.647	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		G	124079966	C	G	124079966	2	3	211	1	0	0	0	0	0	0	0	1	18039	610	22	4		4	ZNF608	5	124079966	Silent	SNP	C	TCGA-B0-5694-01A-11D-1534-10	29295969	124079966	56835294	21	12804											
FCHSD1	89848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141028860	141028860	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr5:141028860G>A	ENST00000435817.2	-	6	441	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	FCHSD1_ENST00000519800.1_Nonsense_Mutation_p.Q129*|FCHSD1_ENST00000523856.1_5'Flank|FCHSD1_ENST00000522783.1_Nonsense_Mutation_p.Q129*|FCHSD1_ENST00000522126.1_Nonsense_Mutation_p.Q55*	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	131								p.Q131*(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCCCTCTGGAGGTTCTCT	0.577																																																1	Substitution - Nonsense(1)	kidney(1)											152	172	165					5																	141028860		2117	4245	6362	SO:0001587	stop_gained	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.391C>T	5.37:g.141028860G>A	ENSP00000399259:p.Gln131*		Q6UX75|Q86Y77|Q9NXX8	Nonsense_Mutation	SNP	ENST00000435817.2	37	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046513	0.75846	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783;ENST00000519800	.	.	.	4.93	4.93	0.64822	.	0.081844	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-19.3678	15.9158	0.79517	0.0:0.0:1.0:0.0	.	.	.	.	X	131;55;129;129	.	ENSP00000399259:Q131X	Q	-	1	0	FCHSD1	141009044	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.804000	0.62554	2.265000	0.75225	0.561000	0.74099	CAG		0.577	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		A	141028860	G	A	141028860	4	1	211	1	0	0	0	0	0	1	0	0	5791	1357	47	2	1741	2	FCHSD1	5	141028860	Nonsense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	16948894	141028860	39886400	22	12805											
G3BP1	10146	hgsc.bcm.edu;ucsc.edu	37	5	151183616	151183617	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr5:151183616_151183617insT	ENST00000394123.3	+	12	1510_1511	c.1365_1366insT	c.(1366-1368)tttfs	p.F456fs	G3BP1_ENST00000543466.1_Frame_Shift_Ins_p.F274fs|G3BP1_ENST00000356245.3_Frame_Shift_Ins_p.F456fs			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	456	Gly-rich.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGAAACCAGGATTTGGAGTGGG	0.574																																																0																																										SO:0001589	frameshift_variant	10146			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1368dupT	5.37:g.151183619_151183619dupT	ENSP00000377681:p.Phe456fs		Q5HYE9	Frame_Shift_Ins	INS	ENST00000394123.3	37	CCDS4319.1																																																																																				0.574	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		T	151183617	-	T	151183616	7	5	211	1	0	1	1	0	0	0	0	0	6143	320	12	0	1407	0	G3BP1	5	151183616	Frame_Shift_Ins	INS	-	TCGA-B0-5694-01A-11D-1534-10	10154756	151183616	29731644	23	12806											
CCHCR1	54535	broad.mit.edu	37	6	31112818	31112826	+	In_Frame_Del	DEL	CCACCTTGC	CCACCTTGC	-	rs2073720	byFrequency	TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	CCACCTTGC	CCACCTTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr6:31112818_31112826delCCACCTTGC	ENST00000376266.5	-	14	1756_1764	c.1634_1642delGCAAGGTGG	c.(1633-1644)agcaaggtggcc>acc	p.545_548SKVA>T	CCHCR1_ENST00000451521.2_In_Frame_Del_p.598_601SKVA>T|CCHCR1_ENST00000396268.3_In_Frame_Del_p.634_637SKVA>T|CCHCR1_ENST00000396263.2_In_Frame_Del_p.492_495SKVA>T	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	545			K -> R (in dbSNP:rs2073720).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGCTGCTGGGCCACCTTGCTCAGCTGCTG	0.656																																																0																																										SO:0001651	inframe_deletion	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1634_1642delGCAAGGTGG	6.37:g.31112818_31112826delCCACCTTGC	ENSP00000365442:p.Ser545_Ala548delinsThr		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	In_Frame_Del	DEL	ENST00000376266.5	37	CCDS4695.1																																																																																				0.656	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		-	31112826	CCACCTTGC	-	31112818	7	5	211	1	0	1	0	1	0	0	0	0	2879	739	26	0	726	0	CCHCR1	6	31112818	In_Frame_Del	DEL	CCACCTTGC	TCGA-B0-5694-01A-11D-1534-10		31112818	140002249	24	12807											
TTBK1	84630	hgsc.bcm.edu	37	6	43221356	43221356	+	Silent	SNP	G	G	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr6:43221356G>T	ENST00000259750.4	+	5	464	c.381G>T	c.(379-381)acG>acT	p.T127T	TTBK1_ENST00000304139.5_Silent_p.T76T	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T127T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCACCTTCACGCTGAGCACCA	0.637																																																1	Substitution - coding silent(1)	lung(1)											50	41	44					6																	43221356		2203	4300	6503	SO:0001819	synonymous_variant	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.381G>T	6.37:g.43221356G>T			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	CCDS34455.1																																																																																				0.637	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			T	43221356	G	T	43221356	2	4	211	1	0	0	0	0	0	0	0	1	16681	1074	38	4		4	TTBK1	6	43221356	Silent	SNP	G	TCGA-B0-5694-01A-11D-1534-10	12108538	43221356	127893711	25	12808											
GPR110	266977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46969278	46969278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr6:46969278delT	ENST00000371253.2	-	14	2834	c.2619delA	c.(2617-2619)aaafs	p.K873fs	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Frame_Shift_Del_p.K676fs	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	873					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGAATTTGGGTTTGGCAGATA	0.338																																																0													174	162	166					6																	46969278		2203	4300	6503	SO:0001589	frameshift_variant	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2619delA	6.37:g.46969278delT	ENSP00000360299:p.Lys873fs		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Frame_Shift_Del	DEL	ENST00000371253.2	37	CCDS34471.1																																																																																				0.338	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		-	46969278	T	-	46969278	7	5	211	1	0	1	0	1	0	0	0	0	6629	1722	60	0	121	0	GPR110	6	46969278	Frame_Shift_Del	DEL	T	TCGA-B0-5694-01A-11D-1534-10	3747922	46969278	124145789	26	12809											
RIMS1	22999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	72960119	72960119	+	Silent	SNP	T	T	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr6:72960119T>A	ENST00000521978.1	+	13	2328	c.2328T>A	c.(2326-2328)cgT>cgA	p.R776R	RIMS1_ENST00000522291.1_Silent_p.R776R|RIMS1_ENST00000523963.1_Silent_p.R250R|RIMS1_ENST00000520567.1_Silent_p.R776R|RIMS1_ENST00000425662.2_Silent_p.R169R|RIMS1_ENST00000518273.1_Silent_p.R776R|RIMS1_ENST00000491071.2_Silent_p.R776R|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000348717.5_Silent_p.R776R|RIMS1_ENST00000264839.7_Silent_p.R776R|RIMS1_ENST00000517960.1_Silent_p.R776R|RIMS1_ENST00000517827.1_Silent_p.R235R|RIMS1_ENST00000401910.3_Silent_p.R250R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	776	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R776R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGATGGACGTCCTCGAAATC	0.353																																																1	Substitution - coding silent(1)	kidney(1)											77	71	73					6																	72960119		1839	4088	5927	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2328T>A	6.37:g.72960119T>A			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	T	8.771	0.925870	0.18056	.	.	ENSG00000079841	ENST00000517433	.	.	.	5.28	-2.73	0.05950	.	.	.	.	.	T	0.26268	0.0641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35076	-0.9803	4	.	.	.	-15.9688	4.0115	0.09624	0.092:0.2367:0.4319:0.2394	.	.	.	.	T	350	.	.	S	+	1	0	RIMS1	73016840	0.404000	0.25328	0.997000	0.53966	0.710000	0.40934	-0.319000	0.08039	-0.145000	0.11294	-0.334000	0.08254	TCC		0.353	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			A	72960119	T	A	72960119	2	1	211	1	0	0	0	0	0	0	0	1	13373	1654	58	5		5	RIMS1	6	72960119	Silent	SNP	T	TCGA-B0-5694-01A-11D-1534-10	25990841	72960119	98154948	27	12810											
MICAL1	64780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	109769530	109769530	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr6:109769530C>A	ENST00000358807.3	-	13	2042	c.1731G>T	c.(1729-1731)gaG>gaT	p.E577D	MICAL1_ENST00000358577.3_Missense_Mutation_p.E491D|MICAL1_ENST00000368952.4_Missense_Mutation_p.E596D	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	577	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.E577D(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCAGCTCATTCTCTGCCACCT	0.592																																																1	Substitution - Missense(1)	kidney(1)											173	163	166					6																	109769530		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1731G>T	6.37:g.109769530C>A	ENSP00000351664:p.Glu577Asp		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.278559|3.278559	0.59758|0.59758	.|.	.|.	ENSG00000135596|ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957|ENST00000433205	T;T;T|.	0.62232|.	0.04;0.04;0.04|.	5.38|5.38	-0.227|-0.227	0.13102|0.13102	Calponin homology domain (5);|.	0.059518|0.059518	0.64402|0.64402	D|D	0.000004|0.000004	T|.	0.46541|.	0.1398|.	L|L	0.55990|0.55990	1.75|1.75	0.36886|0.36886	D|D	0.889628|0.889628	P;P;D|.	0.53312|.	0.956;0.949;0.959|.	D;P;D|.	0.70716|.	0.97;0.871;0.921|.	T|.	0.52041|.	-0.8628|.	10|.	0.66056|0.62326	D|D	0.02|0.03	.|.	10.1646|10.1646	0.42873|0.42873	0.0:0.5666:0.0:0.4334|0.0:0.5666:0.0:0.4334	.|.	596;491;577|.	B7Z3R5;Q8TDZ2-2;Q8TDZ2|.	.;.;MICA1_HUMAN|.	D|X	577;596;491;101|139	ENSP00000351664:E577D;ENSP00000357948:E596D;ENSP00000351385:E491D|.	ENSP00000351385:E491D|ENSP00000408924:E139X	E|E	-|-	3|1	2|0	MICAL1|MICAL1	109876223|109876223	0.996000|0.996000	0.38824|0.38824	0.992000|0.992000	0.48379|0.48379	0.399000|0.399000	0.30720|0.30720	0.500000|0.500000	0.22562|0.22562	0.005000|0.005000	0.14708|0.14708	0.561000|0.561000	0.74099|0.74099	GAG|GAA		0.592	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		A	109769530	C	A	109769530	3	1	211	1	0	0	0	0	1	0	0	0	9571	912	32	4	1524	4	MICAL1	6	109769530	Missense_Mutation	SNP	C	TCGA-B0-5694-01A-11D-1534-10	36809411	109769530	61345537	28	12811											
VNN1	8876	hgsc.bcm.edu	37	6	133015270	133015272	+	In_Frame_Del	DEL	GTT	GTT	-	rs2272996	byFrequency	TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	GTT	GTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr6:133015270_133015272delGTT	ENST00000367928.4	-	3	404_406	c.391_393delAAC	c.(391-393)aacdel	p.N131del		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	131	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.		N -> S (in dbSNP:rs2272996). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CATAGATAGAGTTGTTCTTGGCC	0.438																																																0																																										SO:0001651	inframe_deletion	8876			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.391_393delAAC	6.37:g.133015273_133015275delGTT	ENSP00000356905:p.Asn131del		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	In_Frame_Del	DEL	ENST00000367928.4	37	CCDS5159.1																																																																																				0.438	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			-	133015272	GTT	-	133015270	7	5	211	1	0	1	0	1	0	0	0	0	17187	1020	36	0	1168	0	VNN1	6	133015270	In_Frame_Del	DEL	GTT	TCGA-B0-5694-01A-11D-1534-10	23245740	133015270	38099797	29	12812											
POLM	27434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	44118355	44118355	+	Missense_Mutation	SNP	C	C	A	rs151259046		TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr7:44118355C>A	ENST00000242248.5	-	5	799	c.698G>T	c.(697-699)aGg>aTg	p.R233M	POLM_ENST00000395831.3_Splice_Site_p.R233M|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Missense_Mutation_p.R233M	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	233					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R233M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GGTCTGGTACCTCTCTGAGCG	0.612								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	kidney(1)											149	101	117					7																	44118355		2203	4300	6503	SO:0001583	missense	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.698G>T	7.37:g.44118355C>A	ENSP00000242248:p.Arg233Met		D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725736	0.69074	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	T;T;T	0.45668	2.33;0.89;1.48	5.91	5.91	0.95273	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (1);	0.096296	0.64402	D	0.000001	T	0.63768	0.2539	M	0.67397	2.05	0.47547	D	0.99945	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.951;0.989;0.999;0.971;0.968	T	0.64841	-0.6312	10	0.87932	D	0	-38.628	15.7858	0.78300	0.0:1.0:0.0:0.0	.	200;233;233;233;233	B4DG75;Q6PIY2;Q86WQ9;Q6P5X8;Q9NP87	.;.;.;.;DPOLM_HUMAN	M	233	ENSP00000335141:R233M;ENSP00000242248:R233M;ENSP00000379174:R233M	ENSP00000242248:R233M	R	-	2	0	POLM	44084880	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.838000	0.55828	2.803000	0.96430	0.650000	0.86243	AGG		0.612	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		A	44118355	C	A	44118355	3	1	211	1	0	0	0	0	1	0	0	0	12208	681	24	4	814	4	POLM	7	44118355	Missense_Mutation	SNP	C	TCGA-B0-5694-01A-11D-1534-10		44118355	115020308	30	12813											
AKAP9	10142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91632376	91632376	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr7:91632376A>T	ENST00000359028.2	+	9	3406	c.3181A>T	c.(3181-3183)Atg>Ttg	p.M1061L	AKAP9_ENST00000356239.3_Missense_Mutation_p.M1049L|AKAP9_ENST00000358100.2_Missense_Mutation_p.M1061L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1061					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.M1061L(1)|p.M1049L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATCAAAAATAATGGTGGAAGA	0.343			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	kidney(2)											48	51	50					7																	91632376		2203	4299	6502	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3181A>T	7.37:g.91632376A>T	ENSP00000351922:p.Met1061Leu		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	A	4.103	0.017215	0.07959	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.02944	4.11;4.11;4.1	5.72	-1.52	0.08637	.	0.665589	0.13234	N	0.403420	T	0.03477	0.0100	M	0.62723	1.935	0.09310	N	1	B;B;B;B	0.10296	0.001;0.002;0.002;0.003	B;B;B;B	0.10450	0.001;0.002;0.002;0.005	T	0.41124	-0.9526	10	0.23891	T	0.37	.	7.9312	0.29904	0.4237:0.1225:0.4538:0.0	.	1061;1049;1049;1061	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	L	1049;1061;1061;1061;1061	ENSP00000348573:M1049L;ENSP00000351922:M1061L;ENSP00000350813:M1061L	ENSP00000348573:M1049L	M	+	1	0	AKAP9	91470312	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	0.026000	0.13599	-0.096000	0.12329	0.528000	0.53228	ATG		0.343	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91632376	A	T	91632376	3	4	211	1	0	0	0	0	1	0	0	0	459	101	4	5	3175	5	AKAP9	7	91632376	Missense_Mutation	SNP	A	TCGA-B0-5694-01A-11D-1534-10	47514021	91632376	67506287	31	12814											
NPBWR1	2831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	53853305	53853305	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr8:53853305C>A	ENST00000331251.3	+	1	2315	c.838C>A	c.(838-840)Ccg>Acg	p.P280T		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	280					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.P280T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CACCGACCTCCCGCAGACGCC	0.642																																																1	Substitution - Missense(1)	kidney(1)											56	44	48					8																	53853305		2203	4300	6503	SO:0001583	missense	2831			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.838C>A	8.37:g.53853305C>A	ENSP00000330284:p.Pro280Thr		Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.362354	0.82353	.	.	ENSG00000183729	ENST00000331251	T	0.71341	-0.56	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	D	0.83562	0.5281	M	0.73962	2.25	0.49051	D	0.999744	D	0.69078	0.997	D	0.66602	0.945	D	0.84979	0.0887	10	0.66056	D	0.02	.	18.8759	0.92334	0.0:1.0:0.0:0.0	.	280	P48145	NPBW1_HUMAN	T	280	ENSP00000330284:P280T	ENSP00000330284:P280T	P	+	1	0	NPBWR1	54015858	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.496000	0.53288	2.700000	0.92200	0.556000	0.70494	CCG		0.642	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		A	53853305	C	A	53853305	3	1	211	1	0	0	0	0	1	0	0	0	10570	623	22	4	840	4	NPBWR1	8	53853305	Missense_Mutation	SNP	C	TCGA-B0-5694-01A-11D-1534-10		53853305	92510717	32	12815											
ZNF462	58499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	109689533	109689533	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr9:109689533T>C	ENST00000277225.5	+	3	3629	c.3340T>C	c.(3340-3342)Tac>Cac	p.Y1114H	ZNF462_ENST00000457913.1_Missense_Mutation_p.Y1114H|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1114					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y1114H(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TACTGAGCTTTACTACTGCAA	0.488																																																1	Substitution - Missense(1)	kidney(1)											66	67	66					9																	109689533		2203	4299	6502	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3340T>C	9.37:g.109689533T>C	ENSP00000277225:p.Tyr1114His		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.107315	0.56291	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.12465	2.68;3.07	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.994	T	0.01935	-1.1244	9	.	.	.	.	15.3692	0.74548	0.0:0.0:0.0:1.0	.	1114;1114	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	1114	ENSP00000277225:Y1114H;ENSP00000414570:Y1114H	.	Y	+	1	0	ZNF462	108729354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.933000	0.87642	2.033000	0.60031	0.459000	0.35465	TAC		0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		C	109689533	T	C	109689533	3	2	211	1	0	0	0	0	1	0	0	0	17931	1754	61	3	3346	3	ZNF462	9	109689533	Missense_Mutation	SNP	T	TCGA-B0-5694-01A-11D-1534-10		109689533	31523898	33	12816											
KIAA0913	23053	hgsc.bcm.edu;ucsc.edu	37	10	75557166	75557168	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr10:75557166_75557168delAAC	ENST00000605216.1	+	18	3667_3669	c.3450_3452delAAC	c.(3448-3453)gaaaca>gaa	p.T1152del	ZSWIM8_ENST00000604524.1_In_Frame_Del_p.T1152del|ZSWIM8_ENST00000603114.1_In_Frame_Del_p.T1119del|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604729.1_In_Frame_Del_p.T1157del|ZSWIM8_ENST00000398706.2_In_Frame_Del_p.T1157del	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1152	Ser-rich.						zinc ion binding (GO:0008270)										GTGCCCCTGAAACAACATCGGAT	0.567																																																0																																										SO:0001651	inframe_deletion	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3450_3452delAAC	10.37:g.75557169_75557171delAAC	ENSP00000474748:p.Thr1152del		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	In_Frame_Del	DEL	ENST00000605216.1	37																																																																																					0.567	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		-	75557168	AAC	-	75557166	7	5	211	1	0	1	0	1	0	0	0	0	8202	11	1	0	3535	0	KIAA0913	10	75557166	In_Frame_Del	DEL	AAC	TCGA-B0-5694-01A-11D-1534-10		75557166	59977581	34	12817											
C10orf129	142827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96954310	96954310	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr10:96954310A>T	ENST00000394005.3	+	1	77	c.68A>T	c.(67-69)tAt>tTt	p.Y23F	C10orf129_ENST00000430183.1_5'UTR|C10orf129_ENST00000341686.3_Missense_Mutation_p.Y23F			Q6P461	ACSM6_HUMAN		23					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.Y23F(1)		breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCCTGCTGCTATCCAAACCAA	0.478																																																1	Substitution - Missense(1)	kidney(1)											117	99	105					10																	96954310		692	1591	2283	SO:0001583	missense	142827																														ENST00000394005.3:c.68A>T	10.37:g.96954310A>T	ENSP00000377573:p.Tyr23Phe		A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	37	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	A	7.844	0.722601	0.15439	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	T;T	0.19806	2.12;2.12	1.48	0.102	0.14522	.	.	.	.	.	T	0.06188	0.0160	N	0.08118	0	0.09310	N	0.999997	P	0.35139	0.486	B	0.19946	0.027	T	0.32214	-0.9915	9	0.10902	T	0.67	.	3.7724	0.08647	0.7511:0.0:0.2489:0.0	.	23	Q6P461	ACSM6_HUMAN	F	23	ENSP00000340296:Y23F;ENSP00000377573:Y23F	ENSP00000328491:Y23F	Y	+	2	0	C10orf129	96944300	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	0.501000	0.22578	-0.136000	0.11475	0.246000	0.17985	TAT		0.478	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			T	96954310	A	T	96954310	3	4	211	1	0	0	0	0	1	0	0	0	1595	449	16	5	70	5	C10orf129	10	96954310	Missense_Mutation	SNP	A	TCGA-B0-5694-01A-11D-1534-10	21397144	96954310	38580437	35	12818											
SFXN4	119559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	120900805	120900805	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr10:120900805T>A	ENST00000355697.2	-	14	982	c.963A>T	c.(961-963)aaA>aaT	p.K321N	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.K312N	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	321					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.K321N(1)		central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GAGACTGAATTTTCTCTTCAA	0.338																																																1	Substitution - Missense(1)	kidney(1)											141	145	144					10																	120900805		2203	4300	6503	SO:0001583	missense	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.963A>T	10.37:g.120900805T>A	ENSP00000347924:p.Lys321Asn		Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.465316	0.43839	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875	T;T	0.30714	1.52;1.52	4.95	-2.27	0.06846	.	0.356315	0.27294	N	0.020029	T	0.16428	0.0395	L	0.36672	1.1	0.28805	N	0.898537	P	0.34864	0.473	B	0.34991	0.193	T	0.12218	-1.0556	10	0.72032	D	0.01	-3.205	0.2338	0.00183	0.2782:0.1936:0.1441:0.3841	.	321	Q6P4A7	SFXN4_HUMAN	N	321;312;204	ENSP00000347924:K321N;ENSP00000333200:K312N	ENSP00000333200:K312N	K	-	3	2	SFXN4	120890795	0.531000	0.26338	0.843000	0.33291	0.011000	0.07611	-0.437000	0.06914	-0.628000	0.05582	-0.309000	0.09137	AAA		0.338	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		A	120900805	T	A	120900805	3	1	211	1	0	0	0	0	1	0	0	0	14203	1838	64	5	54	5	SFXN4	10	120900805	Missense_Mutation	SNP	T	TCGA-B0-5694-01A-11D-1534-10	23946495	120900805	14633942	36	12819											
TUBGCP2	10844	broad.mit.edu;hgsc.bcm.edu	37	10	135101707	135101707	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr10:135101707G>A	ENST00000252936.3	-	10	1687	c.1648C>T	c.(1648-1650)Cgc>Tgc	p.R550C	TUBGCP2_ENST00000417178.2_Missense_Mutation_p.R420C|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.R550C|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.R143C|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.R578C			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	550					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R550C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCTTCCAGGCGAGGGGGCGTG	0.662																																																1	Substitution - Missense(1)	kidney(1)											61	59	59					10																	135101707		2203	4300	6503	SO:0001583	missense	10844			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1648C>T	10.37:g.135101707G>A	ENSP00000252936:p.Arg550Cys		B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	g	19.26	3.792428	0.70452	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.29	4.33	0.51752	.	0.053523	0.64402	D	0.000001	T	0.31979	0.0814	M	0.88105	2.93	0.54753	D	0.999987	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.68353	0.928;0.957;0.957	T	0.11916	-1.0568	10	0.72032	D	0.01	-26.9709	12.9584	0.58442	0.0:0.0:0.7716:0.2284	.	578;578;550	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	C	550;420;550;143;578	ENSP00000252936:R550C;ENSP00000395666:R420C;ENSP00000357551:R550C;ENSP00000357550:R143C;ENSP00000446093:R578C	ENSP00000252936:R550C	R	-	1	0	TUBGCP2	134951697	0.995000	0.38212	0.974000	0.42286	0.756000	0.42949	2.224000	0.42945	2.658000	0.90341	0.550000	0.68814	CGC		0.662	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			A	135101707	G	A	135101707	3	1	211	1	0	0	0	0	1	0	0	0	16771	1058	37	1	1092	1	TUBGCP2	10	135101707	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	14200902	135101707	433040	37	12820											
NLRP6	171389	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	285235	285235	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr11:285235T>A	ENST00000312165.5	+	8	2610	c.2610T>A	c.(2608-2610)gaT>gaA	p.D870E	RP11-326C3.2_ENST00000533924.1_RNA|NLRP6_ENST00000534750.1_Missense_Mutation_p.D869E|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	870					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)	p.D870E(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAAAGCCGGATCTGGTCATCA	0.612																																																1	Substitution - Missense(1)	kidney(1)											85	69	75					11																	285235		2203	4297	6500	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2610T>A	11.37:g.285235T>A	ENSP00000309767:p.Asp870Glu		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	t	0.378	-0.930094	0.02359	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.73469	-0.75;-0.72	2.17	-2.08	0.07254	.	.	.	.	.	T	0.46190	0.1380	N	0.17312	0.475	0.09310	N	1	B;B	0.29037	0.07;0.231	B;B	0.22753	0.041;0.026	T	0.27839	-1.0062	9	0.15952	T	0.53	.	0.6723	0.00861	0.2083:0.1366:0.1824:0.4726	.	869;870	E9PJZ8;P59044	.;NALP6_HUMAN	E	869;870	ENSP00000433617:D869E;ENSP00000309767:D870E	ENSP00000309767:D870E	D	+	3	2	NLRP6	275235	0.000000	0.05858	0.011000	0.14972	0.018000	0.09664	-4.458000	0.00230	-0.519000	0.06444	-0.470000	0.05040	GAT		0.612	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		A	285235	T	A	285235	3	1	211	1	0	0	0	0	1	0	0	0	10483	1432	50	5	2640	5	NLRP6	11	285235	Missense_Mutation	SNP	T	TCGA-B0-5694-01A-11D-1534-10		285235	134721281	38	12821											
FAM111A	63901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	58920102	58920102	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr11:58920102A>G	ENST00000528737.1	+	5	3779	c.961A>G	c.(961-963)Aaa>Gaa	p.K321E	FAM111A_ENST00000420244.1_Missense_Mutation_p.K321E|FAM111A_ENST00000361723.3_Missense_Mutation_p.K321E|FAM111A_ENST00000533703.1_Missense_Mutation_p.K321E|FAM111A_ENST00000531147.1_Missense_Mutation_p.K321E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	321					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.K321E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AATGAAAGTAAAAAATGGGGA	0.328																																																1	Substitution - Missense(1)	kidney(1)											36	42	40					11																	58920102		2191	4292	6483	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.961A>G	11.37:g.58920102A>G	ENSP00000434435:p.Lys321Glu		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	A	9.501	1.103215	0.20632	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.65	-0.584	0.11702	Peptidase cysteine/serine, trypsin-like (1);	2.568420	0.01005	N	0.003754	T	0.43634	0.1256	L	0.50333	1.59	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.21793	-1.0235	10	0.25106	T	0.35	-12.5339	9.8394	0.40989	0.6223:0.0:0.3777:0.0	.	321	Q96PZ2	F111A_HUMAN	E	321	ENSP00000434435:K321E;ENSP00000406683:K321E;ENSP00000355264:K321E;ENSP00000433154:K321E;ENSP00000431631:K321E	ENSP00000355264:K321E	K	+	1	0	FAM111A	58676678	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.442000	0.06871	-0.058000	0.13177	0.528000	0.53228	AAA		0.328	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		G	58920102	A	G	58920102	3	3	211	1	0	0	0	0	1	0	0	0	5401	15	1	3	967	3	FAM111A	11	58920102	Missense_Mutation	SNP	A	TCGA-B0-5694-01A-11D-1534-10	58634867	58920102	76086414	39	12822											
FEN1	2237	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61563635	61563636	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr11:61563635_61563636insAC	ENST00000305885.2	+	2	1215_1216	c.802_803insAC	c.(802-804)tacfs	p.Y268fs	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CCCCAACAAGTACCCTGTGCCA	0.579								Editing and processing nucleases																																								0																																										SO:0001589	frameshift_variant	2237			L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"maturation factor-1", "DNase IV"	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.803_804dupAC	11.37:g.61563636_61563637dupAC	ENSP00000305480:p.Tyr268fs			Frame_Shift_Ins	INS	ENST00000305885.2	37	CCDS8010.1																																																																																				0.579	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111		AC	61563636	-	AC	61563635	7	5	211	1	0	1	1	0	0	0	0	0	5814	1638	57	0	804	0	FEN1	11	61563635	Frame_Shift_Ins	INS	-	TCGA-B0-5694-01A-11D-1534-10	2643533	61563635	73442881	40	12823											
ODZ4	26011	hgsc.bcm.edu	37	11	78523290	78523291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr11:78523290_78523291insC	ENST00000278550.7	-	14	2316_2317	c.1854_1855insG	c.(1852-1857)tggaaafs	p.K619fs		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	619	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TCAGCGCCTTTCCAGCCACTGT	0.594																																																0																																										SO:0001589	frameshift_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.1855dupG	11.37:g.78523292_78523292dupC	ENSP00000278550:p.Lys619fs		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Frame_Shift_Ins	INS	ENST00000278550.7	37	CCDS44688.1																																																																																				0.594	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			C	78523291	-	C	78523290	7	5	211	1	0	1	1	0	0	0	0	0	10839	1792	62	0	6538	0	ODZ4	11	78523290	Frame_Shift_Ins	INS	-	TCGA-B0-5694-01A-11D-1534-10	16959655	78523290	56483226	41	12824											
MLL2	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49440459	49440459	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr12:49440459T>A	ENST00000301067.7	-	15	4350	c.4351A>T	c.(4351-4353)Agc>Tgc	p.S1451C		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1451	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S1178C(1)|p.S1451C(1)									GTGTGGTAGCTAATATCACAG	0.597																																																2	Substitution - Missense(2)	kidney(2)											91	97	95					12																	49440459		2093	4215	6308	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4351A>T	12.37:g.49440459T>A	ENSP00000301067:p.Ser1451Cys		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607247	0.46527	.	.	ENSG00000167548	ENST00000301067	T	0.57595	0.39	5.23	5.23	0.72850	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43919	D	0.000513	T	0.71821	0.3385	M	0.74389	2.26	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.75935	-0.3142	10	0.87932	D	0	.	14.1176	0.65164	0.0:0.0:0.0:1.0	.	1451	O14686	MLL2_HUMAN	C	1451	ENSP00000301067:S1451C	ENSP00000301067:S1451C	S	-	1	0	MLL2	47726726	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.040000	0.89188	1.974000	0.57490	0.533000	0.62120	AGC		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49440459	T	A	49440459	3	1	211	1	0	0	0	0	1	0	0	0	9623	1522	53	5	12422	5	MLL2	12	49440459	Missense_Mutation	SNP	T	TCGA-B0-5694-01A-11D-1534-10		49440459	84411436	42	12825											
IKBIP	121457	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	99007799	99007799	+	Missense_Mutation	SNP	A	A	G	rs142312833	byFrequency	TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr12:99007799A>G	ENST00000342502.2	-	3	1028	c.617T>C	c.(616-618)gTa>gCa	p.V206A	IKBIP_ENST00000420861.1_Missense_Mutation_p.V100A|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	206					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V206A(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATTTTTTTCTACTTTCTCTAT	0.318													A|||	2	0.000399361	0.0015	0.0	5008	,	,		18510	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						A	ALA/VAL,	4,4398	8.1+/-20.4	0,4,2197	48	48	48		617,	1.7	0.8	12	dbSNP_134	48	0,8594		0,0,4297	yes	missense,utr-3	IKBIP	NM_201612.1,NM_201613.1	64,	0,4,6494	GG,GA,AA		0.0,0.0909,0.0308	,	206/351,	99007799	4,12992	2201	4297	6498	SO:0001583	missense	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.617T>C	12.37:g.99007799A>G	ENSP00000343471:p.Val206Ala		Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	A	4.751	0.139642	0.09083	9.09E-4	0.0	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.51325	0.75;0.71	5.34	1.69	0.24217	.	.	.	.	.	T	0.23054	0.0557	N	0.17082	0.46	0.20563	N	0.99989	B	0.06786	0.001	B	0.06405	0.002	T	0.29181	-1.0020	9	0.02654	T	1	.	5.0815	0.14659	0.4715:0.1719:0.3567:0.0	.	206	Q70UQ0	IKIP_HUMAN	A	206;100	ENSP00000343471:V206A;ENSP00000398023:V100A	ENSP00000343471:V206A	V	-	2	0	IKBIP	97531930	0.992000	0.36948	0.825000	0.32803	0.843000	0.47879	1.012000	0.29924	0.350000	0.24002	0.533000	0.62120	GTA		0.318	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		G	99007799	A	G	99007799	3	3	211	1	0	0	0	0	1	0	0	0	7611	391	14	3	439	3	IKBIP	12	99007799	Missense_Mutation	SNP	A	TCGA-B0-5694-01A-11D-1534-10	49567340	99007799	34844096	43	12826											
DNAH10	196385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124408962	124408962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr12:124408962delC	ENST00000409039.3	+	66	11420	c.11395delC	c.(11395-11397)cagfs	p.Q3799fs	CCDC92_ENST00000544798.1_Intron|RP11-380L11.4_ENST00000602952.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3799					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGAATAATCAGACTGTCTG	0.473																																																0													63	67	66					12																	124408962		1944	4139	6083	SO:0001589	frameshift_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11395delC	12.37:g.124408962delC	ENSP00000386770:p.Gln3799fs		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	ENST00000409039.3	37	CCDS9255.2																																																																																				0.473	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			-	124408962	C	-	124408962	7	5	211	1	0	1	0	1	0	0	0	0	4600	827	29	0	11657	0	DNAH10	12	124408962	Frame_Shift_Del	DEL	C	TCGA-B0-5694-01A-11D-1534-10	25401163	124408962	9442933	44	12827											
PRPF39	55015	broad.mit.edu;hgsc.bcm.edu	37	14	45581684	45581684	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr14:45581684A>C	ENST00000355765.6	+	11	1906	c.1736A>C	c.(1735-1737)gAt>gCt	p.D579A	SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	579					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.D458A(1)|p.D579A(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TTTCTTGAAGATTTTGGTTCC	0.269																																																2	Substitution - Missense(2)	kidney(2)											37	41	39					14																	45581684		2199	4291	6490	SO:0001583	missense	55015			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1736A>C	14.37:g.45581684A>C	ENSP00000348010:p.Asp579Ala		Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292550	0.80914	.	.	ENSG00000185246	ENST00000355765	T	0.34472	1.36	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.965;0.975	T	0.58470	-0.7631	10	0.19590	T	0.45	-20.9908	14.6176	0.68560	1.0:0.0:0.0:0.0	.	183;579	Q86UA1-2;Q86UA1	.;PRP39_HUMAN	A	579	ENSP00000348010:D579A	ENSP00000348010:D579A	D	+	2	0	PRPF39	44651434	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.664000	0.91139	2.131000	0.65755	0.383000	0.25322	GAT		0.269	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			C	45581684	A	C	45581684	3	2	211	1	0	0	0	0	1	0	0	0	12574	333	12	5	1774	5	PRPF39	14	45581684	Missense_Mutation	SNP	A	TCGA-B0-5694-01A-11D-1534-10		45581684	61767856	45	12828											
WDR25	79446	broad.mit.edu;hgsc.bcm.edu	37	14	100996232	100996232	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr14:100996232G>T	ENST00000335290.6	+	7	1715	c.1489G>T	c.(1489-1491)Gtc>Ttc	p.V497F	WDR25_ENST00000554998.1_Missense_Mutation_p.V497F|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Missense_Mutation_p.V497F|WDR25_ENST00000542471.2_Missense_Mutation_p.V240F	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	497								p.V497F(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CGATGGCCGGGTCCTGATGTA	0.662																																																1	Substitution - Missense(1)	kidney(1)											73	70	71					14																	100996232		2203	4300	6503	SO:0001583	missense	79446			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1489G>T	14.37:g.100996232G>T	ENSP00000334148:p.Val497Phe		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991272	0.74703	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000542471	T;T;T;T	0.01767	4.65;4.65;4.65;4.65	4.83	2.98	0.34508	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.402817	0.24321	N	0.039555	T	0.08714	0.0216	M	0.89030	3	0.45567	D	0.998515	P;D	0.53462	0.874;0.96	P;P	0.56648	0.466;0.803	T	0.00819	-1.1553	10	0.72032	D	0.01	-11.5456	10.2283	0.43238	0.168:0.0:0.832:0.0	.	240;497	Q64LD2-2;Q64LD2	.;WDR25_HUMAN	F	497;497;497;240	ENSP00000450661:V497F;ENSP00000385540:V497F;ENSP00000334148:V497F;ENSP00000441903:V240F	ENSP00000334148:V497F	V	+	1	0	WDR25	100065985	0.978000	0.34361	0.652000	0.29579	0.965000	0.64279	2.582000	0.46085	0.558000	0.29135	0.655000	0.94253	GTC		0.662	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		T	100996232	G	T	100996232	3	4	211	1	0	0	0	0	1	0	0	0	17287	1261	44	4	1511	4	WDR25	14	100996232	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	55414548	100996232	6353308	46	12829											
FANCI	55215	hgsc.bcm.edu;ucsc.edu	37	15	89859678	89859678	+	Silent	SNP	A	A	G			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr15:89859678A>G	ENST00000310775.7	+	38	4061	c.3975A>G	c.(3973-3975)aaA>aaG	p.K1325K	POLG_ENST00000268124.5_3'UTR|POLG_ENST00000442287.2_3'UTR|FANCI_ENST00000300027.8_Silent_p.K1265K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1325					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCAAGAAGAAAAGGAAAAAAT	0.443								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													40	39	39					15																	89859678		2200	4299	6499	SO:0001819	synonymous_variant	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3975A>G	15.37:g.89859678A>G			A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Silent	SNP	ENST00000310775.7	37	CCDS45346.1																																																																																				0.443	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		G	89859678	A	G	89859678	2	3	211	1	0	0	0	0	0	0	0	1	5671	11	1	3		3	FANCI	15	89859678	Silent	SNP	A	TCGA-B0-5694-01A-11D-1534-10		89859678	12671714	47	12830											
CLCN7	1186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1509163	1509163	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr16:1509163G>A	ENST00000382745.4	-	7	1225	c.620C>T	c.(619-621)cCc>cTc	p.P207L	CLCN7_ENST00000448525.1_Missense_Mutation_p.P183L|CLCN7_ENST00000262318.8_Missense_Mutation_p.P183L	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	207					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.P207L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CTTGATCTGGGGGATTCCGCT	0.682																																																1	Substitution - Missense(1)	kidney(1)											45	45	45					16																	1509163		2198	4300	6498	SO:0001583	missense	1186			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.620C>T	16.37:g.1509163G>A	ENSP00000372193:p.Pro207Leu		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.634038	0.67130	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.83163	-1.69;-1.69	4.67	4.67	0.58626	Chloride channel, core (2);	0.107038	0.64402	D	0.000004	D	0.93841	0.8030	H	0.97186	3.955	0.80722	D	1	D;D	0.61697	0.983;0.99	D;P	0.66979	0.948;0.814	D	0.95956	0.8958	10	0.87932	D	0	-37.9223	16.4947	0.84236	0.0:0.0:1.0:0.0	.	183;207	E9PDB9;P51798	.;CLCN7_HUMAN	L	183;160;207;149	ENSP00000410907:P183L;ENSP00000372193:P207L	ENSP00000262318:P160L	P	-	2	0	CLCN7	1449164	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.555000	0.82223	2.314000	0.78098	0.655000	0.94253	CCC		0.682	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		A	1509163	G	A	1509163	3	1	211	1	0	0	0	0	1	0	0	0	3470	1232	43	2	1873	2	CLCN7	16	1509163	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10		1509163	88845590	48	12831											
SRCAP	10847	broad.mit.edu	37	16	30750868	30750868	+	Silent	SNP	A	A	G			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr16:30750868A>G	ENST00000262518.4	+	34	9892	c.9507A>G	c.(9505-9507)gtA>gtG	p.V3169V	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Silent_p.V3107V|SRCAP_ENST00000344771.4_Silent_p.V3011V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3169					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.V3169V(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGGTTCAGTAGAGGAGTCTG	0.677																																																1	Substitution - coding silent(1)	kidney(1)											10	13	12					16																	30750868		2182	4280	6462	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9507A>G	16.37:g.30750868A>G			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.677	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		G	30750868	A	G	30750868	2	3	211	1	0	0	0	0	0	0	0	1	15140	407	15	3		3	SRCAP	16	30750868	Silent	SNP	A	TCGA-B0-5694-01A-11D-1534-10	29241705	30750868	59603885	49	12832											
N4BP1	9683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	48596270	48596270	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr16:48596270T>G	ENST00000262384.3	-	2	520	c.284A>C	c.(283-285)gAg>gCg	p.E95A	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	95					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.E142A(1)|p.E95A(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AAACAGGCTCTCTGCCCCAAC	0.438																																																2	Substitution - Missense(2)	kidney(2)											55	56	56					16																	48596270		1942	4128	6070	SO:0001583	missense	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.284A>C	16.37:g.48596270T>G	ENSP00000262384:p.Glu95Ala		A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.134970	0.37728	.	.	ENSG00000102921	ENST00000262384	T	0.42513	0.97	5.45	4.36	0.52297	.	0.113842	0.64402	D	0.000008	T	0.24661	0.0598	N	0.08118	0	0.26785	N	0.969517	B	0.17038	0.02	B	0.16722	0.016	T	0.21518	-1.0243	10	0.72032	D	0.01	-2.2318	11.4499	0.50147	0.0:0.0708:0.0:0.9292	.	95	O75113	N4BP1_HUMAN	A	95	ENSP00000262384:E95A	ENSP00000262384:E95A	E	-	2	0	N4BP1	47153771	1.000000	0.71417	0.982000	0.44146	0.999000	0.98932	5.659000	0.68010	1.013000	0.39391	0.533000	0.62120	GAG		0.438	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		G	48596270	T	G	48596270	3	3	211	1	0	0	0	0	1	0	0	0	10111	1551	54	5	2430	5	N4BP1	16	48596270	Missense_Mutation	SNP	T	TCGA-B0-5694-01A-11D-1534-10	17845402	48596270	41758483	50	12833											
MBTPS1	8720	hgsc.bcm.edu;ucsc.edu	37	16	84103636	84103636	+	Frame_Shift_Del	DEL	T	T	-	rs201149007		TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr16:84103636delT	ENST00000343411.3	-	14	2285	c.1790delA	c.(1789-1791)aatfs	p.N597fs	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	597					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTCTGCACCATTTTTTGACTA	0.383																																																0													90	98	96					16																	84103636		2200	4300	6500	SO:0001589	frameshift_variant	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1790delA	16.37:g.84103636delT	ENSP00000344223:p.Asn597fs		A8K6V8|Q24JQ2|Q9UF67	Frame_Shift_Del	DEL	ENST00000343411.3	37	CCDS10941.1																																																																																				0.383	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		-	84103636	T	-	84103636	7	5	211	1	0	1	0	1	0	0	0	0	9363	1493	52	0	1408	0	MBTPS1	16	84103636	Frame_Shift_Del	DEL	T	TCGA-B0-5694-01A-11D-1534-10	35507366	84103636	6251117	51	12834											
MYOCD	93649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	12647585	12647585	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr17:12647585A>G	ENST00000343344.4	+	8	803	c.803A>G	c.(802-804)tAc>tGc	p.Y268C	MYOCD_ENST00000425538.1_Missense_Mutation_p.Y268C|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.Y172C			Q8IZQ8	MYCD_HUMAN	myocardin	268					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Y268C(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TATCACCAGTACATTCCCCCA	0.522																																																2	Substitution - Missense(2)	kidney(2)											122	104	110					17																	12647585		2203	4300	6503	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.803A>G	17.37:g.12647585A>G	ENSP00000341835:p.Tyr268Cys		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158174	0.78114	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	D	0.84730	-1.89	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	M	0.87617	2.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93843	0.7138	10	0.62326	D	0.03	-29.8825	14.3994	0.67031	1.0:0.0:0.0:0.0	.	172;268;268	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	C	268;268;172	ENSP00000341835:Y268C	ENSP00000341835:Y268C	Y	+	2	0	MYOCD	12588310	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.296000	0.96104	2.059000	0.61396	0.459000	0.35465	TAC		0.522	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		G	12647585	A	G	12647585	3	3	211	1	0	0	0	0	1	0	0	0	10089	391	14	3	833	3	MYOCD	17	12647585	Missense_Mutation	SNP	A	TCGA-B0-5694-01A-11D-1534-10		12647585	68547625	52	12835											
UNC45B	146862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33498340	33498340	+	Splice_Site	SNP	G	G	C			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr17:33498340G>C	ENST00000268876.5	+	13	1792		c.e13-1		UNC45B_ENST00000394570.2_Splice_Site|UNC45B_ENST00000378449.1_Splice_Site|UNC45B_ENST00000591048.1_Splice_Site|UNC45B_ENST00000433649.1_Splice_Site	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)						cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.?(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTGCCTTCCAGACCAGTGACA	0.572											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Unknown(1)	kidney(1)											116	95	102					17																	33498340		2203	4300	6503	SO:0001630	splice_region_variant	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1696-1G>C	17.37:g.33498340G>C		840	Q495Q8|Q495Q9	Splice_Site	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318869	0.95682	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3504	0.94381	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC45B	30522453	1.000000	0.71417	0.998000	0.56505	0.720000	0.41350	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	.		0.572	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	Intron	C	33498340	G	C	33498340	5	2	211	1	0	0	0	0	0	0	1	0	16994	956	33	4	1741	4	UNC45B	17	33498340	Splice_Site	SNP	G	TCGA-B0-5694-01A-11D-1534-10	20850755	33498340	47696870	53	12836											
HNF1B	6928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36091725	36091725	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr17:36091725G>C	ENST00000225893.4	-	4	1267	c.906C>G	c.(904-906)aaC>aaG	p.N302K	HNF1B_ENST00000427275.2_Missense_Mutation_p.N276K|HNF1B_ENST00000560016.1_Missense_Mutation_p.N302K|HNF1B_ENST00000561193.1_Missense_Mutation_p.N276K	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	302					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N302K(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCTTCCTGCGGTTTGCAAACC	0.612																																					Colon(71;102 1179 9001 27917 43397)											2	Substitution - Missense(2)	kidney(2)											140	113	122					17																	36091725		2203	4300	6503	SO:0001583	missense	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.906C>G	17.37:g.36091725G>C	ENSP00000225893:p.Asn302Lys		B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366508	0.82463	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.99329	-5.75;-5.75	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.178173	0.64402	D	0.000011	D	0.99309	0.9758	M	0.80616	2.505	0.80722	D	1	D;D;P	0.59357	0.968;0.985;0.891	P;P;B	0.61658	0.791;0.892;0.412	D	0.99208	1.0875	10	0.87932	D	0	-0.2386	17.7156	0.88336	0.0:0.0:1.0:0.0	.	276;302;302	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	K	302;276;302;190	ENSP00000225893:N302K;ENSP00000412212:N276K	ENSP00000225893:N302K	N	-	3	2	HNF1B	33165838	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.334000	0.59291	2.775000	0.95449	0.655000	0.94253	AAC		0.612	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		C	36091725	G	C	36091725	3	2	211	1	0	0	0	0	1	0	0	0	7254	1252	44	4	791	4	HNF1B	17	36091725	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	2593385	36091725	45103485	54	12837											
WIPF2	147179	broad.mit.edu;ucsc.edu	37	17	38420798	38420798	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr17:38420798A>G	ENST00000323571.4	+	5	610	c.370A>G	c.(370-372)Agg>Ggg	p.R124G	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.R124G|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.R124G|WIPF2_ENST00000394103.3_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	124					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.R124G(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TGCTGCCCCAAGGCCTCCAGT	0.577										HNSCC(43;0.11)																																						1	Substitution - Missense(1)	kidney(1)											58	67	64					17																	38420798		2203	4300	6503	SO:0001583	missense	147179			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.370A>G	17.37:g.38420798A>G	ENSP00000320924:p.Arg124Gly		A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	a	17.56	3.419835	0.62622	.	.	ENSG00000171475	ENST00000323571	T	0.37058	1.22	5.16	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	M	0.68593	2.085	0.80722	D	1	B	0.29531	0.247	B	0.31016	0.123	T	0.27839	-1.0062	10	0.59425	D	0.04	-7.6056	11.7194	0.51672	0.5767:0.4233:0.0:0.0	.	124	Q8TF74	WIPF2_HUMAN	G	124	ENSP00000320924:R124G	ENSP00000320924:R124G	R	+	1	2	WIPF2	35674324	0.937000	0.31787	0.988000	0.46212	0.944000	0.59088	1.996000	0.40776	0.948000	0.37687	0.445000	0.29226	AGG		0.577	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		G	38420798	A	G	38420798	3	3	211	1	0	0	0	0	1	0	0	0	17373	63	3	3	384	3	WIPF2	17	38420798	Missense_Mutation	SNP	A	TCGA-B0-5694-01A-11D-1534-10	2329073	38420798	42774412	55	12838											
TMEM105	284186	hgsc.bcm.edu;ucsc.edu	37	17	79288241	79288241	+	Frame_Shift_Del	DEL	C	C	-	rs201571116		TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr17:79288241delC	ENST00000332900.1	-	2	571	c.22delG	c.(22-24)gcgfs	p.A8fs		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	8						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			TTCAAGGACGCCCTCCTCACC	0.647																																																0													52	41	45					17																	79288241		2200	4298	6498	SO:0001589	frameshift_variant	284186			AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.22delG	17.37:g.79288241delC	ENSP00000329795:p.Ala8fs			Frame_Shift_Del	DEL	ENST00000332900.1	37	CCDS11781.1																																																																																				0.647	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520		-	79288241	C	-	79288241	7	5	211	1	0	1	0	1	0	0	0	0	16024	739	26	0	375	0	TMEM105	17	79288241	Frame_Shift_Del	DEL	C	TCGA-B0-5694-01A-11D-1534-10	40867443	79288241	1906969	56	12839											
NPC1	4864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	21140211	21140211	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr18:21140211C>A	ENST00000269228.5	-	6	1419	c.865G>T	c.(865-867)Gca>Tca	p.A289S	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.A22S	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	289					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)	p.A289S(1)		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)					CACCACACTGCAAAAAATGCT	0.463																																																1	Substitution - Missense(1)	kidney(1)											112	105	108					18																	21140211		2203	4300	6503	SO:0001583	missense	4864			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.865G>T	18.37:g.21140211C>A	ENSP00000269228:p.Ala289Ser		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971038	0.34754	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.93189	-3.18;-3.1	5.67	4.61	0.57282	.	0.291406	0.36703	N	0.002452	D	0.85470	0.5704	N	0.11201	0.11	0.22389	N	0.999144	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.70011	-0.4989	10	0.22109	T	0.4	-19.0322	15.5079	0.75757	0.0:0.9227:0.0:0.0773	.	300;289	Q59GR1;O15118	.;NPC1_HUMAN	S	289;22;134	ENSP00000269228:A289S;ENSP00000408606:A22S	ENSP00000269228:A289S	A	-	1	0	NPC1	19394209	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.028000	0.57246	2.679000	0.91253	0.655000	0.94253	GCA		0.463	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		A	21140211	C	A	21140211	3	1	211	1	0	0	0	0	1	0	0	0	10572	710	25	4	3051	4	NPC1	18	21140211	Missense_Mutation	SNP	C	TCGA-B0-5694-01A-11D-1534-10		21140211	56937037	57	12840											
C18orf21	83608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33557546	33557546	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr18:33557546C>A	ENST00000592875.1	+	4	1120	c.474C>A	c.(472-474)agC>agA	p.S158R	C18orf21_ENST00000333234.5_Missense_Mutation_p.S70R	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	158								p.S158R(1)		endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						AAGGCAAGAGCCCAGCATCGG	0.413																																																1	Substitution - Missense(1)	kidney(1)											88	85	86					18																	33557546		2203	4300	6503	SO:0001583	missense	83608			BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.474C>A	18.37:g.33557546C>A	ENSP00000465517:p.Ser158Arg		Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	ENST00000592875.1	37	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282570	0.40394	.	.	ENSG00000141428	ENST00000333234;ENST00000269194	T	0.54479	0.57	5.52	-0.964	0.10326	.	0.320112	0.40554	N	0.001075	T	0.66005	0.2746	M	0.78637	2.42	0.34168	D	0.669421	D	0.89917	1.0	D	0.87578	0.998	T	0.70568	-0.4836	10	0.87932	D	0	.	7.4546	0.27258	0.0:0.5663:0.1164:0.3173	.	158	Q32NC0	CR021_HUMAN	R	158;70	ENSP00000269194:S70R	ENSP00000269194:S70R	S	+	3	2	C18orf21	31811544	0.807000	0.29009	0.978000	0.43139	0.262000	0.26303	-0.440000	0.06888	-0.151000	0.11176	-1.334000	0.01262	AGC		0.413	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446		A	33557546	C	A	33557546	3	1	211	1	0	0	0	0	1	0	0	0	1899	738	26	4	488	4	C18orf21	18	33557546	Missense_Mutation	SNP	C	TCGA-B0-5694-01A-11D-1534-10	12417335	33557546	44519702	58	12841											
POLI	11201	hgsc.bcm.edu;ucsc.edu	37	18	51809374	51809374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr18:51809374delG	ENST00000579534.1	+	6	1107	c.964delG	c.(964-966)ggafs	p.G322fs	POLI_ENST00000406285.3_Frame_Shift_Del_p.G243fs|POLI_ENST00000579434.1_Frame_Shift_Del_p.G219fs|POLI_ENST00000217800.5_Frame_Shift_Del_p.G196fs	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	322					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GATACTCTCAGGACCACCTCA	0.338								DNA polymerases (catalytic subunits)																																								0													45	43	44					18																	51809374		2203	4300	6503	SO:0001589	frameshift_variant	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.964delG	18.37:g.51809374delG	ENSP00000462664:p.Gly322fs		Q8N590|Q9H0S1|Q9NYH6	Frame_Shift_Del	DEL	ENST00000579534.1	37	CCDS11954.2																																																																																				0.338	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		-	51809374	G	-	51809374	7	5	211	1	0	1	0	1	0	0	0	0	12205	1001	35	0	986	0	POLI	18	51809374	Frame_Shift_Del	DEL	G	TCGA-B0-5694-01A-11D-1534-10	18251828	51809374	26267874	59	12842											
KISS1R	84634	broad.mit.edu	37	19	918608	918608	+	Silent	SNP	C	C	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr19:918608C>T	ENST00000234371.5	+	2	462	c.309C>T	c.(307-309)taC>taT	p.Y103Y	KISS1R_ENST00000606939.1_Silent_p.Y103Y	NM_032551.4	NP_115940.2	Q969F8	KISSR_HUMAN	KISS1 receptor	103					activation of MAPKK activity (GO:0000186)|arachidonic acid secretion (GO:0050482)|calcium-mediated signaling (GO:0019722)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|positive regulation of hormone secretion (GO:0046887)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission (GO:0050806)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide binding (GO:0042923)|neuropeptide receptor activity (GO:0008188)	p.Y103Y(1)		cervix(1)|kidney(1)|ovary(1)|pancreas(1)|skin(1)	5		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCTGTACCCGCTGCCCG	0.697																																																1	Substitution - coding silent(1)	kidney(1)											33	21	25					19																	918608		2089	4121	6210	SO:0001819	synonymous_variant	84634			AB051065	CCDS12049.1	19p13.3	2012-08-10	2006-02-15	2006-02-15	ENSG00000116014	ENSG00000116014		"GPCR / Class A : RF amide peptide receptors"	4510	protein-coding gene	gene with protein product		604161	"G protein-coupled receptor 54"	GPR54		10100623	Standard	NM_032551		Approved	HOT7T175, AXOR12	uc002lqk.4	Q969F8		ENST00000234371.5:c.309C>T	19.37:g.918608C>T			A5D8U2|B2RTV1|Q96QG0	Silent	SNP	ENST00000234371.5	37	CCDS12049.1																																																																																				0.697	KISS1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458217.3	NM_032551		T	918608	C	T	918608	2	4	211	1	0	0	0	0	0	0	0	1	8330	518	18	2		2	KISS1R	19	918608	Silent	SNP	C	TCGA-B0-5694-01A-11D-1534-10		918608	58210375	60	12843											
JAK3	3718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17952457	17952457	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr19:17952457G>C	ENST00000527670.1	-	6	1005	c.976C>G	c.(976-978)Cag>Gag	p.Q326E	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.Q326E|JAK3_ENST00000458235.1_Missense_Mutation_p.Q326E			P52333	JAK3_HUMAN	Janus kinase 3	326	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Q326E(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	ACTAAAATCTGGTTGTCTGTC	0.617		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	2	Substitution - Missense(2)	kidney(2)											48	54	52					19																	17952457		2202	4299	6501	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.976C>G	19.37:g.17952457G>C	ENSP00000432511:p.Gln326Glu		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556525	0.27827	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.58506	0.33;0.33;0.33	4.72	0.83	0.18854	FERM domain (1);	0.582409	0.16222	N	0.224018	T	0.46092	0.1375	L	0.39898	1.24	0.22435	N	0.999101	B;B;B	0.18610	0.014;0.004;0.029	B;B;B	0.16289	0.006;0.015;0.015	T	0.50642	-0.8804	10	0.72032	D	0.01	-20.7379	10.9386	0.47260	0.0:0.0:0.4651:0.5349	.	326;326;326	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	E	326	ENSP00000391676:Q326E;ENSP00000432511:Q326E;ENSP00000436421:Q326E	ENSP00000413248:Q326E	Q	-	1	0	JAK3	17813457	1.000000	0.71417	0.993000	0.49108	0.272000	0.26649	1.073000	0.30691	0.947000	0.37659	0.205000	0.17691	CAG		0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		C	17952457	G	C	17952457	3	2	211	1	0	0	0	0	1	0	0	0	7941	1357	47	4	2470	4	JAK3	19	17952457	Missense_Mutation	SNP	G	TCGA-B0-5694-01A-11D-1534-10	17033849	17952457	41176526	61	12844											
SIRPB2	284759	broad.mit.edu;hgsc.bcm.edu	37	20	1460664	1460664	+	Silent	SNP	G	G	T	rs376849298		TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr20:1460664G>T	ENST00000359801.3	-	2	168	c.132C>A	c.(130-132)ccC>ccA	p.P44P	SIRPB2_ENST00000444444.2_Silent_p.P44P|SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000608747.1_5'UTR	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	37	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P44P(1)|p.P143P(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGGGCCCTCGGGCTGTAGCA	0.547																																																2	Substitution - coding silent(2)	kidney(2)											41	40	40					20																	1460664		1568	3582	5150	SO:0001819	synonymous_variant	284759			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.132C>A	20.37:g.1460664G>T			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000359801.3	37	CCDS42849.1																																																																																				0.547	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		T	1460664	G	T	1460664	2	4	211	1	0	0	0	0	0	0	0	1	14340	1103	39	4		4	SIRPB2	20	1460664	Silent	SNP	G	TCGA-B0-5694-01A-11D-1534-10		1460664	61564856	62	12845											
PARD6B	84612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	49367001	49367001	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr20:49367001A>T	ENST00000371610.2	+	3	1338	c.1095A>T	c.(1093-1095)gaA>gaT	p.E365D	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	365					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.E365D(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TCTTAGAAGAAGATGGAACAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											48	46	46					20																	49367001		2203	4300	6503	SO:0001583	missense	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.1095A>T	20.37:g.49367001A>T	ENSP00000360672:p.Glu365Asp		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448405	0.84101	.	.	ENSG00000124171	ENST00000371610	T	0.23552	1.9	5.73	-1.8	0.07907	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	M	0.77820	2.39	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.31503	-0.9941	10	0.52906	T	0.07	-32.9314	11.0173	0.47696	0.6111:0.0:0.3889:0.0	.	365	Q9BYG5	PAR6B_HUMAN	D	365	ENSP00000360672:E365D	ENSP00000360672:E365D	E	+	3	2	PARD6B	48800408	1.000000	0.71417	0.867000	0.34043	0.861000	0.49209	0.941000	0.29005	-0.650000	0.05423	0.482000	0.46254	GAA		0.383	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		T	49367001	A	T	49367001	3	4	211	1	0	0	0	0	1	0	0	0	11448	69	3	5	1105	5	PARD6B	20	49367001	Missense_Mutation	SNP	A	TCGA-B0-5694-01A-11D-1534-10	47906337	49367001	13658519	63	12846											
SON	6651	hgsc.bcm.edu	37	21	34925612	34925635	+	In_Frame_Del	DEL	GTCCTGGAGTCTTCGGCTGTGACC	GTCCTGGAGTCTTCGGCTGTGACC	-	rs140276173|rs550454473|rs113673546	byFrequency	TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	GTCCTGGAGTCTTCGGCTGTGACC	GTCCTGGAGTCTTCGGCTGTGACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chr21:34925612_34925635delGTCCTGGAGTCTTCGGCTGTGACC	ENST00000356577.4	+	3	4550_4573	c.4075_4098delGTCCTGGAGTCTTCGGCTGTGACC	c.(4075-4098)gtcctggagtcttcggctgtgaccdel	p.VLESSAVT1359del	SON_ENST00000290239.6_In_Frame_Del_p.VLESSAVT1359del|SON_ENST00000300278.4_In_Frame_Del_p.VLESSAVT1359del|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_In_Frame_Del_p.VLESSAVT1359del	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1359	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGCTATGGCTGTCCTGGAGTCTTCGGCTGTGACCGTCCTGGAGT	0.571																																																0									,	21,4243		0,21,2111					,	-0.6	0			44	100,8154		0,100,4027	no	coding,coding	SON	NM_138927.1,NM_032195.1	,	0,121,6138	A1A1,A1R,RR		1.2115,0.4925,0.9666	,	,		121,12397				SO:0001651	inframe_deletion	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4075_4098delGTCCTGGAGTCTTCGGCTGTGACC	21.37:g.34925612_34925635delGTCCTGGAGTCTTCGGCTGTGACC	ENSP00000348984:p.Val1359_Thr1366del		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	In_Frame_Del	DEL	ENST00000356577.4	37	CCDS13629.1																																																																																				0.571	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		-	34925635	GTCCTGGAGTCTTCGGCTGTGACC	-	34925612	7	5	211	1	0	1	0	1	0	0	0	0	14932	1377	48	0	4085	0	SON	21	34925612	In_Frame_Del	DEL	GTCCTGGAGTCTTCGGCTGTGACC	TCGA-B0-5694-01A-11D-1534-10		34925612	13204283	64	12847											
MAMLD1	10046	broad.mit.edu;hgsc.bcm.edu	37	X	149639659	149639659	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5694-01A-11D-1534-10	TCGA-B0-5694-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6edbaa05-b935-4f82-b070-8fc80ea6b609	543454fe-3924-4a76-8c1d-527e6e1c2937	g.chrX:149639659A>T	ENST00000370401.2	+	4	2124	c.1814A>T	c.(1813-1815)cAg>cTg	p.Q605L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q580L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q580L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q86L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q605L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	605	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q605L(1)|p.Q532L(1)|p.Q580L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					caacagcagcagcagcCTGAC	0.602																																																3	Substitution - Missense(3)	kidney(3)											83	72	76					X																	149639659		2203	4300	6503	SO:0001583	missense	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1814A>T	X.37:g.149639659A>T	ENSP00000359428:p.Gln605Leu		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	7.723	0.697663	0.15106	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	4.62	2.14	0.27477	.	0.411362	0.20092	U	0.099429	T	0.70613	0.3244	M	0.68952	2.095	0.37689	D	0.923764	P;P;P;B	0.51351	0.9;0.9;0.944;0.13	P;P;P;B	0.52957	0.628;0.628;0.714;0.109	T	0.68769	-0.5321	10	0.31617	T	0.26	-11.1169	10.9504	0.47325	0.6508:0.3492:0.0:0.0	.	477;580;580;605	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	477;605;580;605;580;86	ENSP00000359428:Q605L;ENSP00000414517:Q580L;ENSP00000262858:Q605L;ENSP00000397438:Q580L;ENSP00000389106:Q86L	ENSP00000262858:Q605L	Q	+	2	0	MAMLD1	149390317	0.881000	0.30235	0.103000	0.21229	0.289000	0.27227	0.337000	0.19841	0.031000	0.15407	0.158000	0.16466	CAG		0.602	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		T	149639659	A	T	149639659	3	4	211	1	0	0	0	0	1	0	0	0	9210	188	7	5	1824	5	MAMLD1	23	149639659	Missense_Mutation	SNP	A	TCGA-B0-5694-01A-11D-1534-10		149639659	5630901	65	12848											
TP73	7161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	3599704	3599704	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:3599704T>C	ENST00000378295.4	+	3	301	c.146T>C	c.(145-147)aTg>aCg	p.M49T	TP73_ENST00000346387.4_Missense_Mutation_p.M49T|TP73_ENST00000357733.3_Missense_Mutation_p.M49T|TP73_ENST00000604479.1_Missense_Mutation_p.M49T|TP73_ENST00000603362.1_Missense_Mutation_p.M49T|TP73_ENST00000604074.1_Missense_Mutation_p.M49T|TP73_ENST00000354437.4_Missense_Mutation_p.M49T	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	49	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M49T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GATTCCAGCATGGACGTCTTC	0.587																																																1	Substitution - Missense(1)	kidney(1)											125	120	122					1																	3599704		2203	4300	6503	SO:0001583	missense	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.146T>C	1.37:g.3599704T>C	ENSP00000367545:p.Met49Thr		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.140606	0.37825	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387	D;D;D;D	0.99548	-5.98;-6.14;-5.83;-5.9	4.74	3.61	0.41365	.	0.000000	0.85682	U	0.000000	D	0.99227	0.9731	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.987	D;D	0.83275	0.996;0.942	D	0.98586	1.0652	10	0.39692	T	0.17	-20.4172	9.5909	0.39545	0.0:0.0838:0.0:0.9162	.	49;49	O15350-2;O15350	.;P73_HUMAN	T	49	ENSP00000367545:M49T;ENSP00000346423:M49T;ENSP00000350366:M49T;ENSP00000340740:M49T	ENSP00000340740:M49T	M	+	2	0	TP73	3589564	1.000000	0.71417	0.996000	0.52242	0.753000	0.42808	4.300000	0.59079	0.774000	0.33427	0.460000	0.39030	ATG		0.587	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		C	3599704	T	C	3599704	3	2	212	1	0	0	0	0	1	0	0	0	16398	1464	51	3	152	3	TP73	1	3599704	Missense_Mutation	SNP	T	TCGA-B0-5695-01A-11D-1534-10		3599704	245650917	1	12849											
KIF1B	23095	broad.mit.edu;ucsc.edu	37	1	10412718	10412718	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:10412718G>A	ENST00000377086.1	+	38	4181	c.3979G>A	c.(3979-3981)Gaa>Aaa	p.E1327K	KIF1B_ENST00000377081.1_Missense_Mutation_p.E1327K|KIF1B_ENST00000263934.6_Missense_Mutation_p.E1281K|KIF1B_ENST00000465635.1_3'UTR			O60333	KIF1B_HUMAN	kinesin family member 1B	1327					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E1281K(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGAGGTGGATGAAGCTGCAGT	0.423																																																1	Substitution - Missense(1)	kidney(1)											182	181	181					1																	10412718		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3979G>A	1.37:g.10412718G>A	ENSP00000366290:p.Glu1327Lys		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	27.3	4.815546	0.90790	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.73575	-0.68;-0.76;-0.76	5.76	4.85	0.62838	.	0.101452	0.64402	D	0.000002	T	0.79857	0.4518	M	0.66939	2.045	0.58432	D	0.999995	P;P;P;P;B;B	0.52316	0.689;0.928;0.952;0.881;0.174;0.447	P;P;P;P;B;B	0.55222	0.595;0.559;0.771;0.734;0.142;0.075	T	0.76822	-0.2817	10	0.16420	T	0.52	.	15.0704	0.72030	0.068:0.0:0.932:0.0	.	1313;1287;1327;1301;1327;1281	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	K	1327;1281;1327;1327	ENSP00000263934:E1281K;ENSP00000366290:E1327K;ENSP00000366284:E1327K	ENSP00000263934:E1281K	E	+	1	0	KIF1B	10335305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.649000	0.83500	1.436000	0.47453	0.655000	0.94253	GAA		0.423	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			A	10412718	G	A	10412718	3	1	212	1	0	0	0	0	1	0	0	0	8286	1291	45	2	5468	2	KIF1B	1	10412718	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10	6813014	10412718	238837903	2	12850											
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16260060	16260060	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:16260060A>T	ENST00000375759.3	+	11	7529	c.7325A>T	c.(7324-7326)gAg>gTg	p.E2442V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2442	Interaction with MSX2. {ECO:0000250}.|Pro-rich.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.E2442V(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCGGTGGATGAGGAGCCTCAA	0.567																																																1	Substitution - Missense(1)	kidney(1)											66	61	63					1																	16260060		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7325A>T	1.37:g.16260060A>T	ENSP00000364912:p.Glu2442Val		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	1.184	-0.637306	0.03557	.	.	ENSG00000065526	ENST00000375759	T	0.09255	3.0	5.16	2.83	0.33086	.	.	.	.	.	T	0.06735	0.0172	N	0.14661	0.345	0.21802	N	0.999536	B	0.13594	0.008	B	0.14578	0.011	T	0.40021	-0.9585	9	0.30854	T	0.27	-3.1131	9.3141	0.37924	0.8526:0.0:0.1474:0.0	.	2442	Q96T58	MINT_HUMAN	V	2442	ENSP00000364912:E2442V	ENSP00000364912:E2442V	E	+	2	0	SPEN	16132647	0.999000	0.42202	0.008000	0.14137	0.016000	0.09150	3.656000	0.54467	0.301000	0.22738	-0.464000	0.05259	GAG		0.567	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16260060	A	T	16260060	3	4	212	1	0	0	0	0	1	0	0	0	15043	304	11	5	7367	5	SPEN	1	16260060	Missense_Mutation	SNP	A	TCGA-B0-5695-01A-11D-1534-10	5847342	16260060	232990561	3	12851											
MAP7D1	55700	broad.mit.edu	37	1	36644331	36644333	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:36644331_36644333delGGA	ENST00000373151.2	+	11	2148_2150	c.1932_1934delGGA	c.(1930-1935)gcggag>gcg	p.E645del	MAP7D1_ENST00000373150.4_In_Frame_Del_p.E613del|MAP7D1_ENST00000316156.4_In_Frame_Del_p.E608del|MAP7D1_ENST00000373148.4_In_Frame_Del_p.E182del	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	645					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGCCCGggcggagcgggaggcg	0.729																																																0																																										SO:0001651	inframe_deletion	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1932_1934delGGA	1.37:g.36644331_36644333delGGA	ENSP00000362244:p.Glu645del		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	In_Frame_Del	DEL	ENST00000373151.2	37	CCDS30673.1																																																																																				0.729	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		-	36644333	GGA	-	36644331	7	5	212	1	0	1	0	1	0	0	0	0	9269	1103	39	0	1974	0	MAP7D1	1	36644331	In_Frame_Del	DEL	GGA	TCGA-B0-5695-01A-11D-1534-10	20384271	36644331	212606290	4	12852											
HSD3B1	3283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120050234	120050234	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:120050234G>C	ENST00000369413.3	+	2	280	c.135G>C	c.(133-135)gaG>gaC	p.E45D	HSD3B1_ENST00000235547.6_Missense_Mutation_p.E47D|HSD3B1_ENST00000528909.1_Missense_Mutation_p.E45D			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	45					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.E45D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	AATTGAGAGAGGAATTTTCTA	0.483																																																1	Substitution - Missense(1)	kidney(1)											176	150	159					1																	120050234		2203	4300	6503	SO:0001583	missense	3283			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.135G>C	1.37:g.120050234G>C	ENSP00000358421:p.Glu45Asp		A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	CCDS903.1	.	.	.	.	.	.	.	.	.	.	G	8.787	0.929621	0.18131	.	.	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	2.91	-0.18	0.13295	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.772033	0.11991	N	0.509787	T	0.70456	0.3226	N	0.17764	0.52	0.09310	N	1	B;P	0.52316	0.025;0.952	B;P	0.60117	0.034;0.869	T	0.62905	-0.6755	10	0.38643	T	0.18	-3.3268	5.3307	0.15930	0.4352:0.0:0.5648:0.0	.	47;45	Q5TDG2;P14060	.;3BHS1_HUMAN	D	45;45;47;45	ENSP00000435999:E45D;ENSP00000358421:E45D;ENSP00000235547:E47D;ENSP00000432268:E45D	ENSP00000235547:E47D	E	+	3	2	HSD3B1	119851757	0.063000	0.20901	0.039000	0.18376	0.131000	0.20780	0.243000	0.18106	-0.296000	0.08947	0.313000	0.20887	GAG		0.483	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		C	120050234	G	C	120050234	3	2	212	1	0	0	0	0	1	0	0	0	7392	991	35	4	137	4	HSD3B1	1	120050234	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10	83405903	120050234	129200387	5	12853											
CACYBP	27101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	174973753	174973753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr1:174973753C>T	ENST00000367679.2	+	2	467	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	CACYBP_ENST00000405362.1_5'UTR|CACYBP_ENST00000367681.2_5'UTR|CACYBP_ENST00000406752.1_Nonsense_Mutation_p.Q7*	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	7	Interaction with SIAH1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.Q7*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AACACAGCTACAGAAAGATCT	0.358																																																1	Substitution - Nonsense(1)	kidney(1)											53	50	51					1																	174973753		2203	4300	6503	SO:0001587	stop_gained	27101			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.19C>T	1.37:g.174973753C>T	ENSP00000356652:p.Gln7*		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Nonsense_Mutation	SNP	ENST00000367679.2	37	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023752	0.75390	.	.	ENSG00000116161	ENST00000426793;ENST00000367679;ENST00000406752	.	.	.	6.17	6.17	0.99709	.	0.102610	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-0.122	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	7	.	ENSP00000356652:Q7X	Q	+	1	0	CACYBP	173240376	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	3.331000	0.52075	2.941000	0.99782	0.655000	0.94253	CAG		0.358	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		T	174973753	C	T	174973753	4	4	212	1	0	0	0	0	0	1	0	0	2566	479	17	2	25	2	CACYBP	1	174973753	Nonsense_Mutation	SNP	C	TCGA-B0-5695-01A-11D-1534-10	54923519	174973753	74276868	6	12854											
MAP4K3	8491	hgsc.bcm.edu;ucsc.edu	37	2	39564675	39564675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr2:39564675delT	ENST00000263881.3	-	5	682	c.358delA	c.(358-360)acafs	p.T120fs	MAP4K3_ENST00000437545.1_Frame_Shift_Del_p.T57fs|MAP4K3_ENST00000341681.5_Frame_Shift_Del_p.T120fs	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ACCTGCAGTGTTTCTCTGCTA	0.318																																																0													121	119	120					2																	39564675		2203	4295	6498	SO:0001589	frameshift_variant	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.358delA	2.37:g.39564675delT	ENSP00000263881:p.Thr120fs		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Frame_Shift_Del	DEL	ENST00000263881.3	37	CCDS1803.1																																																																																				0.318	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		-	39564675	T	-	39564675	7	5	212	1	0	1	0	1	0	0	0	0	9263	1725	60	0	2446	0	MAP4K3	2	39564675	Frame_Shift_Del	DEL	T	TCGA-B0-5695-01A-11D-1534-10		39564675	203634698	7	12855											
PAPOLG	64895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61019416	61019416	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr2:61019416A>T	ENST00000238714.3	+	17	1920	c.1671A>T	c.(1669-1671)gaA>gaT	p.E557D		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	557					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.E557D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CTGTAGGAGAAACAGAAAGGT	0.398																																					GBM(183;1497 2932 21839 46797)											1	Substitution - Missense(1)	kidney(1)											61	66	64					2																	61019416		2203	4300	6503	SO:0001583	missense	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1671A>T	2.37:g.61019416A>T	ENSP00000238714:p.Glu557Asp		B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	A	2.061	-0.415330	0.04766	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	6.04	-0.701	0.11269	.	0.392111	0.28983	N	0.013509	T	0.15349	0.0370	N	0.22421	0.69	0.21325	N	0.999723	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.15665	-1.0429	9	0.12430	T	0.62	-13.846	1.6783	0.02827	0.3246:0.2513:0.3023:0.1218	.	246;91;557	E9PEP5;Q53T81;Q9BWT3	.;.;PAPOG_HUMAN	D	557;246;225	.	ENSP00000238714:E557D	E	+	3	2	PAPOLG	60872920	0.300000	0.24435	0.021000	0.16686	0.046000	0.14306	0.898000	0.28404	-0.323000	0.08602	0.460000	0.39030	GAA		0.398	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		T	61019416	A	T	61019416	3	4	212	1	0	0	0	0	1	0	0	0	11433	11	1	5	1737	5	PAPOLG	2	61019416	Missense_Mutation	SNP	A	TCGA-B0-5695-01A-11D-1534-10	21454741	61019416	182179957	8	12856											
ST3GAL5	8869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	86071563	86071563	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr2:86071563G>C	ENST00000377332.3	-	6	1072	c.964C>G	c.(964-966)Ctt>Gtt	p.L322V	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.L294V|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.L299V	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	322					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)	p.L322V(1)|p.L299V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GAGTACTGAAGGATGTCAAAG	0.433																																																2	Substitution - Missense(2)	kidney(2)											109	106	107					2																	86071563		2203	4300	6503	SO:0001583	missense	8869			AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"Sialyltransferases"	10872	protein-coding gene	gene with protein product		604402	"sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.964C>G	2.37:g.86071563G>C	ENSP00000366549:p.Leu322Val		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	ENST00000377332.3	37	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661404	0.67700	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332	T;T;T	0.33654	1.4;1.4;1.4	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.83953	2.67	0.80722	D	1	D;D	0.63046	0.992;0.99	D;P	0.63488	0.915;0.819	T	0.63229	-0.6684	10	0.72032	D	0.01	-13.4522	9.8999	0.41342	0.1558:0.0:0.8442:0.0	.	322;299	Q9UNP4;Q9UNP4-3	SIAT9_HUMAN;.	V	299;294;322	ENSP00000377397:L299V;ENSP00000377394:L294V;ENSP00000366549:L322V	ENSP00000366549:L322V	L	-	1	0	ST3GAL5	85925074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.593000	0.61034	2.560000	0.86352	0.585000	0.79938	CTT		0.433	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		C	86071563	G	C	86071563	3	2	212	1	0	0	0	0	1	0	0	0	15223	1000	35	4	300	4	ST3GAL5	2	86071563	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10	25052147	86071563	157127810	9	12857											
RAB3GAP1	22930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	135926271	135926271	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr2:135926271C>A	ENST00000264158.8	+	24	2909	c.2866C>A	c.(2866-2868)Cct>Act	p.P956T	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P912T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P963T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	956					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.P956T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CAAAGCTCTGCCTCAGCGGAT	0.517																																																1	Substitution - Missense(1)	kidney(1)											107	106	106					2																	135926271		2203	4300	6503	SO:0001583	missense	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2866C>A	2.37:g.135926271C>A	ENSP00000264158:p.Pro956Thr		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836342	0.91117	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.69685	0.07;-0.42;0.11	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.73962	2.25	0.80722	D	1	D;P	0.53885	0.963;0.848	P;P	0.49637	0.617;0.537	T	0.78079	-0.2344	10	0.59425	D	0.04	-12.5553	20.3214	0.98679	0.0:1.0:0.0:0.0	.	963;956	C9J837;Q15042	.;RB3GP_HUMAN	T	956;912;963	ENSP00000264158:P956T;ENSP00000444306:P912T;ENSP00000411418:P963T	ENSP00000264158:P956T	P	+	1	0	RAB3GAP1	135642741	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.482000	0.81143	2.804000	0.96469	0.655000	0.94253	CCT		0.517	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		A	135926271	C	A	135926271	3	1	212	1	0	0	0	0	1	0	0	0	12941	739	26	4	2985	4	RAB3GAP1	2	135926271	Missense_Mutation	SNP	C	TCGA-B0-5695-01A-11D-1534-10	49854708	135926271	107273102	10	12858											
ATIC	471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	216211658	216211658	+	Silent	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr2:216211658T>C	ENST00000236959.9	+	14	1823	c.1497T>C	c.(1495-1497)atT>atC	p.I499I	ATIC_ENST00000540518.1_Silent_p.I440I|ATIC_ENST00000435675.1_Silent_p.I498I	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	499					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.I499I(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CTGGAACCATTGGCGAGGTGA	0.418			T	ALK	ALCL																																		Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	1	Substitution - coding silent(1)	kidney(1)											127	122	123					2																	216211658		2203	4300	6503	SO:0001819	synonymous_variant	471				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1497T>C	2.37:g.216211658T>C			A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP	ENST00000236959.9	37	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	T	8.879	0.951268	0.18431	.	.	ENSG00000138363	ENST00000446622;ENST00000426233	.	.	.	5.86	-11.7	0.00046	.	.	.	.	.	T	0.58032	0.2094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72507	-0.4272	4	.	.	.	-26.4016	15.0672	0.72005	0.0:0.2163:0.069:0.7148	.	.	.	.	R	193;168	.	.	W	+	1	0	ATIC	215919903	0.025000	0.19082	0.085000	0.20634	0.949000	0.60115	-0.849000	0.04322	-2.535000	0.00489	-0.973000	0.02599	TGG		0.418	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		C	216211658	T	C	216211658	2	2	212	1	0	0	0	0	0	0	0	1	1105	1800	63	3		3	ATIC	2	216211658	Silent	SNP	T	TCGA-B0-5695-01A-11D-1534-10	80285387	216211658	26987715	11	12859											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191482	10191482	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr3:10191482A>T	ENST00000256474.2	+	3	1315	c.475A>T	c.(475-477)Aaa>Taa	p.K159*	VHL_ENST00000345392.2_Nonsense_Mutation_p.K118*|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	159	Interaction with Elongin BC complex.		K -> E (in VHLD; type II).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.K159*(2)|p.L158_K159del(1)|p.T157fs*14(1)|p.K159fs*10(1)|p.K159fs*13(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.K159E(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.Y156*(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTATACTCTGAAAGAGCGATG	0.507		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Deletion - Frameshift(4)|Deletion - In frame(3)|Substitution - Nonsense(2)|Complex - frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(11)|adrenal_gland(1)	GRCh37	CM961430	VHL	M							90	82	84					3																	10191482		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.475A>T	3.37:g.10191482A>T	ENSP00000256474:p.Lys159*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080058	0.76528	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.86	4.86	0.63082	.	0.056352	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0835	12.7224	0.57149	1.0:0.0:0.0:0.0	.	.	.	.	X	159;118;77	.	ENSP00000256474:K159X	K	+	1	0	VHL	10166482	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	6.694000	0.74587	2.162000	0.67917	0.533000	0.62120	AAA		0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191482	A	T	10191482	4	4	212	1	0	0	0	0	0	1	0	0	17167	247	9	5	485	5	VHL	3	10191482	Nonsense_Mutation	SNP	A	TCGA-B0-5695-01A-11D-1534-10		10191482	187830948	12	12860											
IP6K2	51447	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48732607	48732607	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr3:48732607G>T	ENST00000328631.5	-	2	341	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	IP6K2_ENST00000453202.1_Missense_Mutation_p.L40M|IP6K2_ENST00000443964.1_Missense_Mutation_p.L99M|IP6K2_ENST00000413298.1_Missense_Mutation_p.L40M|IP6K2_ENST00000432678.2_Missense_Mutation_p.L40M|IP6K2_ENST00000446860.1_Missense_Mutation_p.L98M|IP6K2_ENST00000417896.1_Missense_Mutation_p.L40M|IP6K2_ENST00000449610.1_Missense_Mutation_p.L40M|IP6K2_ENST00000450045.1_Missense_Mutation_p.L94M|IP6K2_ENST00000431721.2_Missense_Mutation_p.L95M|IP6K2_ENST00000340879.4_Missense_Mutation_p.L40M|IP6K2_ENST00000436134.1_5'UTR	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	40					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.L40M(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GGCTTGCACAGGGTTGTCTCA	0.597																																																3	Substitution - Missense(3)	kidney(3)											107	103	104					3																	48732607		2203	4300	6503	SO:0001583	missense	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.118C>A	3.37:g.48732607G>T	ENSP00000331103:p.Leu40Met		A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356909	0.82243	.	.	ENSG00000068745	ENST00000328631;ENST00000449563;ENST00000413654;ENST00000443853;ENST00000437427;ENST00000412850;ENST00000454335;ENST00000340879;ENST00000432678;ENST00000431721;ENST00000449610;ENST00000413298;ENST00000450045;ENST00000446860;ENST00000455545;ENST00000417896;ENST00000443964;ENST00000453202;ENST00000440424;ENST00000434860;ENST00000424035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.67	3.68	0.42216	.	0.053078	0.64402	D	0.000001	T	0.77164	0.4090	L	0.46157	1.445	0.39844	D	0.973151	D;D;D;D;P;D;P	0.71674	0.998;0.998;0.998;0.993;0.664;0.998;0.664	P;P;P;P;B;P;B	0.62649	0.903;0.905;0.905;0.865;0.109;0.905;0.109	T	0.78560	-0.2157	10	0.87932	D	0	-25.2646	6.952	0.24550	0.0914:0.0:0.5495:0.359	.	98;94;95;94;40;94;40	B4E3G6;A8K636;A8K3B1;C9J124;B2RCP4;C9JRM0;Q9UHH9	.;.;.;.;.;.;IP6K2_HUMAN	M	40;40;40;40;40;40;94;40;40;95;40;40;94;98;98;40;99;40;40;40;94	ENSP00000331103:L40M;ENSP00000411776:L40M;ENSP00000414428:L40M;ENSP00000389761:L40M;ENSP00000403968:L40M;ENSP00000395819:L40M;ENSP00000412121:L94M;ENSP00000341925:L40M;ENSP00000400812:L40M;ENSP00000414139:L95M;ENSP00000393077:L40M;ENSP00000396203:L40M;ENSP00000394488:L94M;ENSP00000399052:L98M;ENSP00000410454:L98M;ENSP00000388116:L40M;ENSP00000410950:L99M;ENSP00000387394:L40M;ENSP00000393797:L40M;ENSP00000388420:L40M	ENSP00000331103:L40M	L	-	1	2	IP6K2	48707611	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	2.753000	0.47524	1.377000	0.46286	0.305000	0.20034	CTG		0.597	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		T	48732607	G	T	48732607	3	4	212	1	0	0	0	0	1	0	0	0	7791	991	35	4	1535	4	IP6K2	3	48732607	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10	38541125	48732607	149289823	13	12861											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52682446	52682462	+	Splice_Site	DEL	TGTAGCTTCCATTCTAC	TGTAGCTTCCATTCTAC	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	TGTAGCTTCCATTCTAC	TGTAGCTTCCATTCTAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr3:52682446_52682462delTGTAGCTTCCATTCTAC	ENST00000296302.7	-	7	716_728	c.715_727delGTAGAATGGAAGCTACA	c.(715-729)gtagaatggaagcta>ta	p.VEWKL239fs	PBRM1_ENST00000337303.4_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000409114.3_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000356770.4_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000409057.1_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000394830.3_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000410007.1_Splice_Site_p.VEWKL239fs|PBRM1_ENST00000409767.1_Splice_Site_p.VEWKL239fs			Q86U86	PB1_HUMAN	polybromo 1	239	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y242H(3)|p.?(3)|p.K243*(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGAATACTTTTGTAGCTTCCATTCTACAATAAACAAC	0.332			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	9	Substitution - Nonsense(3)|Substitution - Missense(3)|Unknown(3)	kidney(9)																																								SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.715-1GTAGAATGGAAGCTACA>-	3.37:g.52682446_52682462delTGTAGCTTCCATTCTAC			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.332	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Frame_Shift_Del	-	52682462	TGTAGCTTCCATTCTAC	-	52682446	8	5	212	1	0	1	0	1	0	0	1	0	11493	1821	63	0	4269	0	PBRM1	3	52682446	Splice_Site	DEL	TGTAGCTTCCATTCTAC	TCGA-B0-5695-01A-11D-1534-10	3949839	52682446	145339984	14	12862											
USP38	84640	broad.mit.edu;hgsc.bcm.edu	37	4	144106648	144106648	+	Silent	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr4:144106648G>A	ENST00000307017.4	+	1	551	c.45G>A	c.(43-45)ctG>ctA	p.L15L	RP11-284M14.1_ENST00000507486.1_RNA|USP38_ENST00000510377.1_Silent_p.L15L|RP11-284M14.1_ENST00000507826.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	15					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.L15L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CGCATCCCCTGCCCCTCAAGC	0.652																																																1	Substitution - coding silent(1)	kidney(1)											78	68	71					4																	144106648		2203	4300	6503	SO:0001819	synonymous_variant	84640			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.45G>A	4.37:g.144106648G>A			B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	CCDS3758.1																																																																																				0.652	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		A	144106648	G	A	144106648	2	1	212	1	0	0	0	0	0	0	0	1	17074	1306	46	2		2	USP38	4	144106648	Silent	SNP	G	TCGA-B0-5695-01A-11D-1534-10		144106648	47047628	15	12863											
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127673799	127673799	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr5:127673799T>A	ENST00000508053.1	-	33	4462	c.3488A>T	c.(3487-3489)gAa>gTa	p.E1163V	FBN2_ENST00000508989.1_Missense_Mutation_p.E1130V|FBN2_ENST00000262464.4_Missense_Mutation_p.E1163V|FBN2_ENST00000507835.1_Missense_Mutation_p.E13V			P35556	FBN2_HUMAN	fibrillin 2	1163	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1163V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGGTTACGTTCACATTCGTC	0.473																																																2	Substitution - Missense(2)	kidney(2)											74	67	70					5																	127673799		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3488A>T	5.37:g.127673799T>A	ENSP00000424571:p.Glu1163Val		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312359	0.81358	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	4.89	4.89	0.63831	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.91314	0.7261	N	0.12663	0.25	0.80722	D	1	B;D	0.76494	0.387;0.999	B;D	0.85130	0.194;0.997	D	0.91470	0.5196	10	0.36615	T	0.2	.	14.9721	0.71243	0.0:0.0:0.0:1.0	.	1130;1163	D6RJI3;P35556	.;FBN2_HUMAN	V	1163;1163;13;1130	ENSP00000262464:E1163V;ENSP00000424571:E1163V;ENSP00000426839:E13V;ENSP00000425596:E1130V	ENSP00000262464:E1163V	E	-	2	0	FBN2	127701698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.057000	0.71119	2.191000	0.70037	0.528000	0.53228	GAA		0.473	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127673799	T	A	127673799	3	1	212	1	0	0	0	0	1	0	0	0	5705	1783	62	5	5406	5	FBN2	5	127673799	Missense_Mutation	SNP	T	TCGA-B0-5695-01A-11D-1534-10		127673799	53241461	16	12864											
LAMA2	3908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	129588309	129588309	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr6:129588309C>T	ENST00000421865.2	+	16	2316	c.2267C>T	c.(2266-2268)cCa>cTa	p.P756L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	756	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.P756L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCTGTGAGCCATGTCAGTGC	0.473																																																1	Substitution - Missense(1)	kidney(1)											345	291	309					6																	129588309		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2267C>T	6.37:g.129588309C>T	ENSP00000400365:p.Pro756Leu		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421857	0.62622	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.38077	1.16	5.66	5.66	0.87406	.	0.220654	0.39274	N	0.001420	T	0.51261	0.1664	M	0.71206	2.165	0.58432	D	0.999997	D;P	0.69078	0.997;0.919	P;B	0.59643	0.861;0.324	T	0.54715	-0.8252	10	0.87932	D	0	.	19.7324	0.96188	0.0:1.0:0.0:0.0	.	756;756	A6NF00;P24043	.;LAMA2_HUMAN	L	756	ENSP00000400365:P756L	ENSP00000346769:P756L	P	+	2	0	LAMA2	129630002	0.992000	0.36948	0.980000	0.43619	0.974000	0.67602	3.259000	0.51515	2.663000	0.90544	0.655000	0.94253	CCA		0.473	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			T	129588309	C	T	129588309	3	4	212	1	0	0	0	0	1	0	0	0	8608	594	21	2	2329	2	LAMA2	6	129588309	Missense_Mutation	SNP	C	TCGA-B0-5695-01A-11D-1534-10		129588309	41526758	17	12865											
RSPH3	83861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	159420742	159420742	+	Silent	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr6:159420742A>T	ENST00000252655.1	-	1	456	c.267T>A	c.(265-267)ggT>ggA	p.G89G	RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000449822.1_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RSPH3_ENST00000297262.3_Silent_p.G89G|RP1-111C20.4_ENST00000606470.1_RNA	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	89								p.G89G(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		ACGGGAGGTTACCAGCGCAGG	0.647																																																1	Substitution - coding silent(1)	kidney(1)											90	102	98					6																	159420742		2203	4300	6503	SO:0001819	synonymous_variant	83861			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.267T>A	6.37:g.159420742A>T			Q96LQ5|Q96LX2|Q9BX75	Silent	SNP	ENST00000252655.1	37	CCDS5260.1																																																																																				0.647	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		T	159420742	A	T	159420742	2	4	212	1	0	0	0	0	0	0	0	1	13711	378	14	5		5	RSPH3	6	159420742	Silent	SNP	A	TCGA-B0-5695-01A-11D-1534-10	29832433	159420742	11694325	18	12866											
FOXK1	221937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	4780487	4780487	+	Silent	SNP	C	C	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:4780487C>T	ENST00000328914.4	+	2	579	c.579C>T	c.(577-579)ccC>ccT	p.P193P	FOXK1_ENST00000446823.1_Silent_p.P30P	NM_001037165.1	NP_001032242.1			forkhead box K1									p.P193P(1)|p.P19P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCCGGTTTCCCAGCACGGCCA	0.602																																																2	Substitution - coding silent(2)	kidney(2)											222	224	223					7																	4780487		2203	4300	6503	SO:0001819	synonymous_variant	221937			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.579C>T	7.37:g.4780487C>T				Silent	SNP	ENST00000328914.4	37	CCDS34591.1																																																																																				0.602	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			T	4780487	C	T	4780487	2	4	212	1	0	0	0	0	0	0	0	1	6016	581	21	2		2	FOXK1	7	4780487	Silent	SNP	C	TCGA-B0-5695-01A-11D-1534-10		4780487	154358176	19	12867											
TYW1	55253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	66474585	66474585	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:66474585C>A	ENST00000359626.5	+	4	453	c.289C>A	c.(289-291)Ctt>Att	p.L97I		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	97	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.L97I(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGCAACAGTTCTTGCTGAAGC	0.393																																																1	Substitution - Missense(1)	kidney(1)											143	126	132					7																	66474585		2203	4300	6503	SO:0001583	missense	55253			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.289C>A	7.37:g.66474585C>A	ENSP00000352645:p.Leu97Ile		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306756	0.60305	.	.	ENSG00000198874	ENST00000359626;ENST00000442959	T;T	0.74209	-0.82;-0.82	3.75	3.75	0.43078	Flavodoxin/nitric oxide synthase (2);	0.000000	0.64402	U	0.000009	D	0.83594	0.5288	M	0.69185	2.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.85562	0.1228	10	0.72032	D	0.01	.	13.406	0.60913	0.0:1.0:0.0:0.0	.	97	Q9NV66	TYW1_HUMAN	I	97	ENSP00000352645:L97I;ENSP00000398897:L97I	ENSP00000352645:L97I	L	+	1	0	TYW1	66112020	1.000000	0.71417	0.978000	0.43139	0.396000	0.30629	3.799000	0.55529	2.096000	0.63516	0.491000	0.48974	CTT		0.393	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		A	66474585	C	A	66474585	3	1	212	1	0	0	0	0	1	0	0	0	16823	913	32	4	303	4	TYW1	7	66474585	Missense_Mutation	SNP	C	TCGA-B0-5695-01A-11D-1534-10	61694098	66474585	92664078	20	12868											
FGL2	10875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	76829078	76829078	+	Silent	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:76829078T>C	ENST00000248598.5	-	1	65	c.33A>G	c.(31-33)tcA>tcG	p.S11S	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	11						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.S11S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CAAGAACAGCTGAGCTCAGCC	0.498																																																1	Substitution - coding silent(1)	kidney(1)											71	70	70					7																	76829078		2203	4300	6503	SO:0001819	synonymous_variant	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.33A>G	7.37:g.76829078T>C				Silent	SNP	ENST00000248598.5	37	CCDS5591.1																																																																																				0.498	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		C	76829078	T	C	76829078	2	2	212	1	0	0	0	0	0	0	0	1	5875	1567	55	3		3	FGL2	7	76829078	Silent	SNP	T	TCGA-B0-5695-01A-11D-1534-10	10354493	76829078	82309585	21	12869											
ZKSCAN1	7586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99631591	99631591	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:99631591C>G	ENST00000324306.6	+	6	1697	c.1463C>G	c.(1462-1464)cCc>cGc	p.P488R	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.P452R|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.P275R	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P488R(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGGGAGAAACCCTATGAATGT	0.468																																																1	Substitution - Missense(1)	kidney(1)											72	79	77					7																	99631591		2203	4300	6503	SO:0001583	missense	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1463C>G	7.37:g.99631591C>G	ENSP00000323148:p.Pro488Arg		A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370430	0.82573	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.56444	0.46;0.46;2.29	5.08	5.08	0.68730	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000020	T	0.74084	0.3670	M	0.81497	2.545	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.77289	-0.2643	10	0.87932	D	0	.	16.3706	0.83357	0.0:1.0:0.0:0.0	.	488	P17029	ZKSC1_HUMAN	R	488;452;275	ENSP00000323148:P488R;ENSP00000409172:P452R;ENSP00000443508:P275R	ENSP00000323148:P488R	P	+	2	0	ZKSCAN1	99469527	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	3.233000	0.51311	2.802000	0.96397	0.563000	0.77884	CCC		0.468	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		G	99631591	C	G	99631591	3	3	212	1	0	0	0	0	1	0	0	0	17691	623	22	4	1481	4	ZKSCAN1	7	99631591	Missense_Mutation	SNP	C	TCGA-B0-5695-01A-11D-1534-10	22802513	99631591	59507072	22	12870											
ANKRD7	56311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117874795	117874795	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:117874795T>C	ENST00000265224.4	+	3	490	c.335T>C	c.(334-336)cTa>cCa	p.L112P	ANKRD7_ENST00000357099.4_Missense_Mutation_p.L132P|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.L59P|ANKRD7_ENST00000417525.1_Missense_Mutation_p.L59P	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	112					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.L132P(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						ACTATTCTTCTAAACTTTGGT	0.353																																																1	Substitution - Missense(1)	kidney(1)											229	212	217					7																	117874795		1877	4107	5984	SO:0001583	missense	56311			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"Ankyrin repeat domain containing"	18588	protein-coding gene	gene with protein product	"testis-specific ankyrin motif containing protein"	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.335T>C	7.37:g.117874795T>C	ENSP00000265224:p.Leu112Pro		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669942	0.67814	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	4.9	4.9	0.64082	Ankyrin repeat-containing domain (4);	0.000000	0.38837	N	0.001546	D	0.91392	0.7284	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94522	0.7728	10	0.87932	D	0	-11.1029	14.4919	0.67657	0.0:0.0:0.0:1.0	.	112	Q92527	ANKR7_HUMAN	P	132;112;59;59	ENSP00000349612:L132P;ENSP00000265224:L112P;ENSP00000395595:L59P;ENSP00000388473:L59P	ENSP00000265224:L112P	L	+	2	0	ANKRD7	117662031	1.000000	0.71417	0.053000	0.19242	0.023000	0.10783	4.587000	0.60991	1.975000	0.57531	0.533000	0.62120	CTA		0.353	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		C	117874795	T	C	117874795	3	2	212	1	0	0	0	0	1	0	0	0	686	1522	53	3	345	3	ANKRD7	7	117874795	Missense_Mutation	SNP	T	TCGA-B0-5695-01A-11D-1534-10	18243204	117874795	41263868	23	12871											
LRGUK	136332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	133812165	133812165	+	Silent	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:133812165T>C	ENST00000285928.2	+	1	114	c.45T>C	c.(43-45)tcT>tcC	p.S15S	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	15						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.S15S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAGCTGCCTCTCTCCTGAGAG	0.602																																																1	Substitution - coding silent(1)	kidney(1)											87	91	90					7																	133812165		2203	4300	6503	SO:0001819	synonymous_variant	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.45T>C	7.37:g.133812165T>C			Q2M3I1	Silent	SNP	ENST00000285928.2	37	CCDS5830.1																																																																																				0.602	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		C	133812165	T	C	133812165	2	2	212	1	0	0	0	0	0	0	0	1	8945	1538	54	3		3	LRGUK	7	133812165	Silent	SNP	T	TCGA-B0-5695-01A-11D-1534-10	15937370	133812165	25326498	24	12872											
TTC26	79989	broad.mit.edu;hgsc.bcm.edu	37	7	138822685	138822685	+	Splice_Site	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:138822685G>A	ENST00000464848.1	+	3	314	c.234G>A	c.(232-234)gaG>gaA	p.E78E	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000495038.1_Splice_Site_p.E78E|TTC26_ENST00000430935.1_Splice_Site_p.E78E|TTC26_ENST00000478836.2_Splice_Site_p.E78E|TTC26_ENST00000343187.4_Intron|TTC26_ENST00000474035.2_Splice_Site_p.E78E			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	78					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.E78E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GAGCTCTGGAGGTTAGTGTAA	0.323																																																1	Substitution - coding silent(1)	kidney(1)											131	128	129					7																	138822685		2203	4300	6503	SO:0001630	splice_region_variant	79989			AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.234+1G>A	7.37:g.138822685G>A			A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	37	CCDS5852.1																																																																																				0.323	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926	Silent	A	138822685	G	A	138822685	5	1	212	1	0	0	0	0	0	0	1	0	16699	1014	35	2	244	2	TTC26	7	138822685	Splice_Site	SNP	G	TCGA-B0-5695-01A-11D-1534-10	5010520	138822685	20315978	25	12873											
LMBR1	64327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	156518213	156518213	+	Silent	SNP	A	A	G	rs534746017		TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr7:156518213A>G	ENST00000353442.5	-	14	1310	c.1074T>C	c.(1072-1074)ctT>ctC	p.L358L	LMBR1_ENST00000359422.4_Silent_p.L206L|LMBR1_ENST00000540390.1_Silent_p.L337L|LMBR1_ENST00000354505.4_Silent_p.L399L	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	358					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)		p.L358L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AGGACACCATAAGATAGCTGT	0.398																																																1	Substitution - coding silent(1)	kidney(1)											80	83	82					7																	156518213		2203	4300	6503	SO:0001819	synonymous_variant	64327			AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.1074T>C	7.37:g.156518213A>G			A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Silent	SNP	ENST00000353442.5	37	CCDS5945.1																																																																																				0.398	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		G	156518213	A	G	156518213	2	3	212	1	0	0	0	0	0	0	0	1	8842	349	13	3		3	LMBR1	7	156518213	Silent	SNP	A	TCGA-B0-5695-01A-11D-1534-10	17695528	156518213	2620450	26	12874											
CLN8	2055	broad.mit.edu;ucsc.edu	37	8	1728492	1728492	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr8:1728492T>A	ENST00000331222.4	+	3	867	c.620T>A	c.(619-621)cTa>cAa	p.L207Q	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	207	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.L207Q(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CGCATGGTTCTAACCTACCAC	0.537																																					Pancreas(155;338 1942 6138 10888 50612)											2	Substitution - Missense(2)	kidney(2)											234	148	177					8																	1728492		2203	4300	6503	SO:0001583	missense	2055			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.620T>A	8.37:g.1728492T>A	ENSP00000328182:p.Leu207Gln		Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469124	0.84533	.	.	ENSG00000182372	ENST00000331222	D	0.87571	-2.27	5.17	5.17	0.71159	TRAM/LAG1/CLN8 homology domain (3);	0.179999	0.28790	U	0.014125	D	0.92831	0.7720	M	0.73962	2.25	0.52501	D	0.999956	D	0.89917	1.0	D	0.85130	0.997	D	0.93118	0.6522	10	0.52906	T	0.07	-13.3651	15.008	0.71527	0.0:0.0:0.0:1.0	.	207	Q9UBY8	CLN8_HUMAN	Q	207	ENSP00000328182:L207Q	ENSP00000328182:L207Q	L	+	2	0	CLN8	1715899	1.000000	0.71417	0.064000	0.19789	0.919000	0.55068	7.382000	0.79729	1.943000	0.56356	0.528000	0.53228	CTA		0.537	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		A	1728492	T	A	1728492	3	1	212	1	0	0	0	0	1	0	0	0	3548	1522	53	5	626	5	CLN8	8	1728492	Missense_Mutation	SNP	T	TCGA-B0-5695-01A-11D-1534-10		1728492	144635530	27	12875											
RB1CC1	9821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	53586507	53586507	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr8:53586507A>T	ENST00000025008.5	-	7	1423	c.900T>A	c.(898-900)gaT>gaA	p.D300E	RB1CC1_ENST00000539297.1_Missense_Mutation_p.D300E|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D300E|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	300					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.D300E(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAAGGGCAGATCACCATCTT	0.383																																					GBM(180;1701 2102 13475 42023 52570)											1	Substitution - Missense(1)	kidney(1)											144	131	135					8																	53586507		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.900T>A	8.37:g.53586507A>T	ENSP00000025008:p.Asp300Glu		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778680	0.49891	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.13778	2.56;2.56;2.56	5.49	1.47	0.22746	.	0.197517	0.42420	N	0.000720	T	0.06645	0.0170	N	0.14661	0.345	0.33730	D	0.618106	P;P	0.41131	0.739;0.622	B;B	0.39119	0.291;0.152	T	0.39461	-0.9613	10	0.23302	T	0.38	-12.7653	7.0232	0.24926	0.7304:0.1244:0.1452:0.0	.	300;300	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	E	300	ENSP00000025008:D300E;ENSP00000396067:D300E;ENSP00000445960:D300E	ENSP00000025008:D300E	D	-	3	2	RB1CC1	53749060	1.000000	0.71417	0.990000	0.47175	0.891000	0.51852	2.672000	0.46850	0.372000	0.24591	0.460000	0.39030	GAT		0.383	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		T	53586507	A	T	53586507	3	4	212	1	0	0	0	0	1	0	0	0	13105	330	12	5	3956	5	RB1CC1	8	53586507	Missense_Mutation	SNP	A	TCGA-B0-5695-01A-11D-1534-10	51858015	53586507	92777515	28	12876											
VPS13B	157680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	100847487	100847487	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr8:100847487C>G	ENST00000358544.2	+	53	9863	c.9752C>G	c.(9751-9753)cCt>cGt	p.P3251R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P3226R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3251					protein transport (GO:0015031)			p.P3226R(1)|p.P3251R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGAAGACCCTAGTCCTCGA	0.348																																					Colon(161;2205 2542 7338 31318)											2	Substitution - Missense(2)	kidney(2)											70	73	72					8																	100847487		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9752C>G	8.37:g.100847487C>G	ENSP00000351346:p.Pro3251Arg		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529428	0.85706	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70749	-0.51;-0.51	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.81650	0.4867	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.82028	-0.0660	10	0.72032	D	0.01	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	3226;3251	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	R	3226;3251	ENSP00000349685:P3226R;ENSP00000351346:P3251R	ENSP00000349685:P3226R	P	+	2	0	VPS13B	100916663	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.148000	0.77389	2.733000	0.93635	0.655000	0.94253	CCT		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		G	100847487	C	G	100847487	3	3	212	1	0	0	0	0	1	0	0	0	17195	681	24	4	10152	4	VPS13B	8	100847487	Missense_Mutation	SNP	C	TCGA-B0-5695-01A-11D-1534-10	47260980	100847487	45516535	29	12877											
PTPRD	5789	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	8500875	8500875	+	Silent	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr9:8500875A>T	ENST00000381196.4	-	21	2550	c.2007T>A	c.(2005-2007)acT>acA	p.T669T	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000540109.1_Silent_p.T669T|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Silent_p.T669T|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Silent_p.T656T|PTPRD_ENST00000360074.4_Silent_p.T656T|PTPRD_ENST00000397611.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	669	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T669T(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTATTTGGTAGTGTCCGAAG	0.473										TSP Lung(15;0.13)																																						1	Substitution - coding silent(1)	kidney(1)											243	230	234					9																	8500875		2203	4300	6503	SO:0001819	synonymous_variant	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2007T>A	9.37:g.8500875A>T			B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																				0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			T	8500875	A	T	8500875	2	4	212	1	0	0	0	0	0	0	0	1	12805	407	15	5		5	PTPRD	9	8500875	Silent	SNP	A	TCGA-B0-5695-01A-11D-1534-10		8500875	132712556	30	12878											
NFX1	4799	broad.mit.edu	37	9	33351750	33351750	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr9:33351750A>G	ENST00000379540.3	+	16	2679	c.2617A>G	c.(2617-2619)Acc>Gcc	p.T873A	Y_RNA_ENST00000363674.1_RNA|NFX1_ENST00000379521.4_Missense_Mutation_p.T873A	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	873					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T873A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ACCCTGCCATACCAGCTCACC	0.552																																																1	Substitution - Missense(1)	kidney(1)											74	68	70					9																	33351750		2203	4300	6503	SO:0001583	missense	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2617A>G	9.37:g.33351750A>G	ENSP00000368856:p.Thr873Ala		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.602173	0.28534	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000263220	T;T	0.39997	1.05;1.05	5.88	2.92	0.33932	Zinc finger, NF-X1-type (1);	0.465074	0.25708	N	0.028821	T	0.14141	0.0342	N	0.01140	-0.99	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30208	-0.9986	10	0.02654	T	1	.	13.2438	0.60012	0.4307:0.5693:0.0:0.0	.	873;873	Q12986;Q12986-2	NFX1_HUMAN;.	A	873;873;70	ENSP00000368856:T873A;ENSP00000368836:T873A	ENSP00000263220:T70A	T	+	1	0	NFX1	33341750	0.975000	0.34042	0.999000	0.59377	0.985000	0.73830	2.543000	0.45752	0.323000	0.23307	-0.213000	0.12676	ACC		0.552	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			G	33351750	A	G	33351750	3	3	212	1	0	0	0	0	1	0	0	0	10389	391	14	3	2761	3	NFX1	9	33351750	Missense_Mutation	SNP	A	TCGA-B0-5695-01A-11D-1534-10	24850875	33351750	107861681	31	12879											
GFI1B	8328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	135863634	135863634	+	Missense_Mutation	SNP	G	G	T	rs145562579	byFrequency	TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr9:135863634G>T	ENST00000339463.3	+	8	1108	c.289G>T	c.(289-291)Gac>Tac	p.D97Y	GFI1B_ENST00000534944.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000372123.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000450530.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000372122.1_Missense_Mutation_p.D97Y|GFI1B_ENST00000372124.1_Missense_Mutation_p.D97Y			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	97	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.D97Y(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCCACTGTCCGACTCACCCCC	0.587																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											109	94	99					9																	135863634		2203	4300	6503	SO:0001583	missense	8328			AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.289G>T	9.37:g.135863634G>T	ENSP00000344782:p.Asp97Tyr		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526992	0.44969	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.09255	3.14;3.0;3.0;3.14;3.14;3.0	4.6	3.69	0.42338	.	0.710545	0.13222	N	0.404314	T	0.08626	0.0214	L	0.36672	1.1	0.23150	N	0.998214	P;B	0.34864	0.473;0.086	B;B	0.31101	0.124;0.038	T	0.19095	-1.0316	10	0.59425	D	0.04	-26.2484	7.6508	0.28348	0.1146:0.0:0.8854:0.0	.	97;97	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	Y	97	ENSP00000361197:D97Y;ENSP00000344782:D97Y;ENSP00000409546:D97Y;ENSP00000446134:D97Y;ENSP00000361196:D97Y;ENSP00000361195:D97Y	ENSP00000344782:D97Y	D	+	1	0	GFI1B	134853455	0.967000	0.33354	0.884000	0.34674	0.953000	0.61014	2.544000	0.45761	2.075000	0.62263	0.563000	0.77884	GAC		0.587	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		T	135863634	G	T	135863634	3	4	212	1	0	0	0	0	1	0	0	0	6342	1058	37	4	299	4	GFI1B	9	135863634	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10	102511884	135863634	5349797	32	12880											
GBGT1	26301	broad.mit.edu;hgsc.bcm.edu	37	9	136029453	136029453	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr9:136029453C>A	ENST00000372040.3	-	7	866	c.555G>T	c.(553-555)gaG>gaT	p.E185D	RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.E168D|GBGT1_ENST00000372043.3_Missense_Mutation_p.R179I|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	185					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)	p.E185D(1)		breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GGCTGATGGTCTCCATCCGGC	0.632																																																1	Substitution - Missense(1)	kidney(1)											78	60	66					9																	136029453		2203	4299	6502	SO:0001583	missense	26301			AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.555G>T	9.37:g.136029453C>A	ENSP00000361110:p.Glu185Asp		A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.209850|4.209850	0.79240|0.79240	.|.	.|.	ENSG00000148288|ENSG00000148288	ENST00000372040;ENST00000540636|ENST00000372043	T;T|T	0.01388|0.24723	4.95;4.95|1.84	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.116735|.	0.56097|.	D|.	0.000025|.	T|T	0.58509|0.58509	0.2127|0.2127	M|M	0.88775|0.88775	2.98|2.98	0.48087|0.48087	D|D	0.999584|0.999584	B;B|.	0.28419|.	0.211;0.211|.	B;B|.	0.24974|.	0.057;0.057|.	T|T	0.67082|0.67082	-0.5760|-0.5760	10|7	0.87932|0.87932	D|D	0|0	-7.3915|-7.3915	18.1031|18.1031	0.89512|0.89512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	168;185|.	B7Z8S5;Q8N5D6|.	.;GBGT1_HUMAN|.	D|I	185;168|179	ENSP00000361110:E185D;ENSP00000437663:E168D|ENSP00000361113:R179I	ENSP00000361110:E185D|ENSP00000361113:R179I	E|R	-|-	3|2	2|0	GBGT1|GBGT1	135019274|135019274	0.905000|0.905000	0.30787|0.30787	1.000000|1.000000	0.80357|0.80357	0.573000|0.573000	0.36030|0.36030	1.872000|1.872000	0.39549|0.39549	2.513000|2.513000	0.84729|0.84729	0.491000|0.491000	0.48974|0.48974	GAG|AGA		0.632	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		A	136029453	C	A	136029453	3	1	212	1	0	0	0	0	1	0	0	0	6274	912	32	4	492	4	GBGT1	9	136029453	Missense_Mutation	SNP	C	TCGA-B0-5695-01A-11D-1534-10	165819	136029453	5183978	33	12881											
PLXDC2	84898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	20106053	20106053	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr10:20106053G>A	ENST00000377252.4	+	1	886	c.45G>A	c.(43-45)atG>atA	p.M15I	PLXDC2_ENST00000377242.3_Missense_Mutation_p.M15I	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	15					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.M15I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAGGAGTTATGTTACTTTGCC	0.597											OREG0020062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											69	60	63					10																	20106053		2199	4287	6486	SO:0001583	missense	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.45G>A	10.37:g.20106053G>A	ENSP00000366460:p.Met15Ile	738	Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529730	0.44969	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.21361	2.05;2.01	4.57	3.58	0.41010	.	0.376118	0.21786	N	0.069123	T	0.10035	0.0246	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08534	-1.0717	10	0.87932	D	0	.	6.7552	0.23510	0.1296:0.0:0.8704:0.0	.	15;15	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	I	15;15;1	ENSP00000366460:M15I;ENSP00000366450:M15I	ENSP00000366450:M15I	M	+	3	0	PLXDC2	20146059	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.629000	0.46485	2.378000	0.81104	0.563000	0.77884	ATG		0.597	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		A	20106053	G	A	20106053	3	1	212	1	0	0	0	0	1	0	0	0	12120	1377	48	2	47	2	PLXDC2	10	20106053	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10		20106053	115428694	34	12882											
SMC3	9126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	112360237	112360237	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr10:112360237G>C	ENST00000361804.4	+	22	2594	c.2468G>C	c.(2467-2469)gGt>gCt	p.G823A		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	823					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.G823A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAATTAGAAGGTATTATTACT	0.323																																																1	Substitution - Missense(1)	kidney(1)											74	86	82					10																	112360237		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2468G>C	10.37:g.112360237G>C	ENSP00000354720:p.Gly823Ala		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946512	0.18356	.	.	ENSG00000108055	ENST00000361804	T	0.74842	-0.88	5.81	5.81	0.92471	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	N	0.00690	-1.25	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.56872	-0.7907	10	0.02654	T	1	.	20.0755	0.97742	0.0:0.0:1.0:0.0	.	823	Q9UQE7	SMC3_HUMAN	A	823	ENSP00000354720:G823A	ENSP00000354720:G823A	G	+	2	0	SMC3	112350227	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.749000	0.94314	0.460000	0.39030	GGT		0.323	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		C	112360237	G	C	112360237	3	2	212	1	0	0	0	0	1	0	0	0	14790	1261	44	4	2554	4	SMC3	10	112360237	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10	92254184	112360237	23174510	35	12883	95	2									
SMC3	9126	broad.mit.edu;ucsc.edu	37	10	112360239	112360239	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr10:112360239A>T	ENST00000361804.4	+	22	2596	c.2470A>T	c.(2470-2472)Att>Ttt	p.I824F		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	824					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.I824F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATTAGAAGGTATTATTACTCG	0.323																																																1	Substitution - Missense(1)	kidney(1)											74	86	82					10																	112360239		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2470A>T	10.37:g.112360239A>T	ENSP00000354720:p.Ile824Phe		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.712266	0.68730	.	.	ENSG00000108055	ENST00000361804	T	0.75938	-0.98	5.81	5.81	0.92471	RecF/RecN/SMC (1);	0.042581	0.85682	D	0.000000	T	0.51907	0.1702	N	0.08118	0	0.80722	D	1	P	0.48911	0.917	B	0.31495	0.131	T	0.64287	-0.6443	10	0.62326	D	0.03	.	16.1616	0.81721	1.0:0.0:0.0:0.0	.	824	Q9UQE7	SMC3_HUMAN	F	824	ENSP00000354720:I824F	ENSP00000354720:I824F	I	+	1	0	SMC3	112350229	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.218000	0.71995	0.377000	0.23210	ATT		0.323	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		T	112360239	A	T	112360239	3	4	212	1	0	0	0	0	1	0	0	0	14790	449	16	5	2556	5	SMC3	10	112360239	Missense_Mutation	SNP	A	TCGA-B0-5695-01A-11D-1534-10	2	112360239	23174508	36	12884	95	2									
OSBPL5	114879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	3109542	3109542	+	Missense_Mutation	SNP	G	G	A	rs150730024		TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr11:3109542G>A	ENST00000263650.7	-	22	2692	c.2533C>T	c.(2533-2535)Cgg>Tgg	p.R845W	OSBPL5_ENST00000348039.5_Missense_Mutation_p.R777W|OSBPL5_ENST00000478260.1_Missense_Mutation_p.R299W|OSBPL5_ENST00000389989.3_Missense_Mutation_p.R777W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R756W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R476W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	845					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)	p.R845W(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGTGCTGCCCGTGCCGTGGAG	0.642																																																1	Substitution - Missense(1)	kidney(1)						G	TRP/ARG,TRP/ARG,TRP/ARG	0,4404		0,0,2202	50	47	48		2329,2533,2329	-1.1	0	11	dbSNP_134	48	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	OSBPL5	NM_001144063.1,NM_020896.3,NM_145638.2	101,101,101	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	777/812,845/880,777/812	3109542	1,12999	2202	4298	6500	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2533C>T	11.37:g.3109542G>A	ENSP00000263650:p.Arg845Trp		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	CCDS31344.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.77|15.77	2.930716|2.930716	0.52866|0.52866	0.0|0.0	1.16E-4|1.16E-4	ENSG00000021762|ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039|ENST00000357352	T;T;T;T;T;T;T|.	0.46451|.	0.87;1.46;1.47;0.88;1.47;0.87;1.47|.	4.77|4.77	-1.08|-1.08	0.09936|0.09936	.|.	0.408050|.	0.23955|.	N|.	0.042916|.	T|T	0.32882|0.32882	0.0844|0.0844	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P;D;P|.	0.53312|.	0.857;0.959;0.738|.	P;P;P|.	0.51657|.	0.462;0.676;0.462|.	T|T	0.33523|0.33523	-0.9865|-0.9865	10|6	0.66056|0.48119	D|T	0.02|0.1	-16.8355|-16.8355	5.6793|5.6793	0.17765|0.17765	0.2244:0.0:0.4887:0.2869|0.2244:0.0:0.4887:0.2869	.|.	756;777;845|.	B4DVB0;Q8N596;Q9H0X9|.	.;.;OSBL5_HUMAN|.	W|M	299;845;777;398;756;476;777|410	ENSP00000437141:R299W;ENSP00000263650:R845W;ENSP00000374639:R777W;ENSP00000431412:R398W;ENSP00000433342:R756W;ENSP00000441551:R476W;ENSP00000302872:R777W|.	ENSP00000263650:R845W|ENSP00000349912:T410M	R|T	-|-	1|2	2|0	OSBPL5|OSBPL5	3066118|3066118	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	0.051000|0.051000	0.14141|0.14141	-0.111000|-0.111000	0.12001|0.12001	-0.254000|-0.254000	0.11334|0.11334	CGG|ACG		0.642	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			A	3109542	G	A	3109542	3	1	212	1	0	0	0	0	1	0	0	0	11282	1144	40	1	110	1	OSBPL5	11	3109542	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10		3109542	131896974	37	12885											
TRIM5	85363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5699642	5699642	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr11:5699642G>C	ENST00000380034.3	-	4	792	c.536C>G	c.(535-537)aCc>aGc	p.T179S	TRIM5_ENST00000396847.3_Missense_Mutation_p.T179S|TRIM5_ENST00000305836.5_Missense_Mutation_p.T179S|TRIM5_ENST00000380027.1_Missense_Mutation_p.T179S|TRIM5_ENST00000396855.3_Missense_Mutation_p.T179S|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Missense_Mutation_p.T179S	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	179					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T179S(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CAAGACGTTGGTTTTGTCATA	0.463																																																3	Substitution - Missense(3)	kidney(3)											110	106	107					11																	5699642		2201	4297	6498	SO:0001583	missense	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.536C>G	11.37:g.5699642G>C	ENSP00000369373:p.Thr179Ser		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	CCDS31393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.52|11.52	1.664181|1.664181	0.29604|0.29604	.|.	.|.	ENSG00000132256|ENSG00000132256	ENST00000438025|ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903	.|T;T;T;T;T;T;T	.|0.71103	.|3.6;3.6;3.6;3.6;3.6;3.6;-0.54	4.74|4.74	-1.73|-1.73	0.08081|0.08081	.|.	.|2.141850	.|0.01883	.|N	.|0.037991	T|T	0.53834|0.53834	0.1821|0.1821	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.37864	.|0.404;0.404;0.61	.|B;B;B	.|0.36186	.|0.196;0.196;0.219	T|T	0.39078|0.39078	-0.9631|-0.9631	5|10	.|0.30854	.|T	.|0.27	.|.	0.061|0.061	0.00015|0.00015	0.305:0.1907:0.172:0.3322|0.305:0.1907:0.172:0.3322	.|.	.|179;179;179	.|Q9C035-3;Q9C035-4;Q9C035	.|.;.;TRIM5_HUMAN	A|S	56|179	.|ENSP00000380064:T179S;ENSP00000307031:T179S;ENSP00000369373:T179S;ENSP00000369366:T179S;ENSP00000380058:T179S;ENSP00000380062:T179S;ENSP00000388031:T179S	.|ENSP00000307031:T179S	P|T	-|-	1|2	0|0	TRIM5|TRIM5	5656218|5656218	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.460000|-0.460000	0.06720|0.06720	-0.188000|-0.188000	0.10499|0.10499	-1.047000|-1.047000	0.02352|0.02352	CCA|ACC		0.463	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		C	5699642	G	C	5699642	3	2	212	1	0	0	0	0	1	0	0	0	16530	1261	44	4	1204	4	TRIM5	11	5699642	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10	2590100	5699642	129306874	38	12886											
USH1C	10083	broad.mit.edu;ucsc.edu	37	11	17544964	17544964	+	Splice_Site	SNP	A	A	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr11:17544964A>C	ENST00000318024.4	-	10	928		c.e10+1		USH1C_ENST00000527020.1_Splice_Site|USH1C_ENST00000005226.7_Splice_Site|USH1C_ENST00000527720.1_Splice_Site	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.?(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCCACATCTCACCTCCTTGTG	0.552																																																1	Unknown(1)	kidney(1)											141	121	128					11																	17544964		2200	4293	6493	SO:0001630	splice_region_variant	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.819+1T>G	11.37:g.17544964A>C			A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Splice_Site	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038589	0.75617	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9298	0.52839	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USH1C	17501540	1.000000	0.71417	0.993000	0.49108	0.866000	0.49608	6.045000	0.71020	2.075000	0.62263	0.455000	0.32223	.		0.552	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	Intron	C	17544964	A	C	17544964	5	2	212	1	0	0	0	0	0	0	1	0	17039	173	6	5	2028	5	USH1C	11	17544964	Splice_Site	SNP	A	TCGA-B0-5695-01A-11D-1534-10	11845322	17544964	117461552	39	12887											
CCDC73	493860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32636393	32636393	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr11:32636393A>T	ENST00000335185.5	-	16	1514	c.1471T>A	c.(1471-1473)Tcc>Acc	p.S491T	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	491								p.S491T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTATCTAAGGAGAGGGTTTTG	0.328																																																1	Substitution - Missense(1)	kidney(1)											98	94	95					11																	32636393		1826	4069	5895	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1471T>A	11.37:g.32636393A>T	ENSP00000335325:p.Ser491Thr		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	A	5.327	0.245640	0.10077	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.33	1.15	0.20763	.	0.411457	0.23252	N	0.050226	T	0.25644	0.0624	L	0.34521	1.04	0.09310	N	1	B	0.19817	0.039	B	0.20955	0.032	T	0.20874	-1.0262	9	0.13470	T	0.59	.	7.3795	0.26847	0.6264:0.118:0.0:0.2557	.	491	Q6ZRK6	CCD73_HUMAN	T	491	.	ENSP00000335325:S491T	S	-	1	0	CCDC73	32592969	0.003000	0.15002	0.000000	0.03702	0.080000	0.17528	0.782000	0.26788	0.324000	0.23333	0.482000	0.46254	TCC		0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		T	32636393	A	T	32636393	3	4	212	1	0	0	0	0	1	0	0	0	2848	304	11	5	1780	5	CCDC73	11	32636393	Missense_Mutation	SNP	A	TCGA-B0-5695-01A-11D-1534-10	15091429	32636393	102370123	40	12888											
EPS8	2059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	15803757	15803757	+	Splice_Site	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr12:15803757C>G	ENST00000281172.5	-	14	1870	c.1434G>C	c.(1432-1434)gaG>gaC	p.E478D	EPS8_ENST00000543612.1_Splice_Site_p.E478D|EPS8_ENST00000540613.1_Splice_Site_p.E218D|EPS8_ENST00000542903.1_Splice_Site_p.E218D|EPS8_ENST00000543523.1_Splice_Site_p.E478D	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	478					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.E478D(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AAAAAACTACCTCTGTGGATA	0.353																																																1	Substitution - Missense(1)	kidney(1)											70	68	69					12																	15803757		2203	4300	6503	SO:0001630	splice_region_variant	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1434+1G>C	12.37:g.15803757C>G			A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	9.795	1.179097	0.21787	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.07908	3.29;3.29;3.29;3.15;3.15	4.86	4.86	0.63082	.	0.421904	0.25848	N	0.027915	T	0.10937	0.0267	L	0.51422	1.61	0.48185	D	0.999605	B	0.19331	0.035	B	0.17098	0.017	T	0.11690	-1.0577	9	.	.	.	-20.3408	17.9899	0.89165	0.0:1.0:0.0:0.0	.	478	Q12929	EPS8_HUMAN	D	478;478;478;218;218;478	ENSP00000441867:E478D;ENSP00000281172:E478D;ENSP00000442388:E478D;ENSP00000441888:E218D;ENSP00000437806:E218D	.	E	-	3	2	EPS8	15695024	1.000000	0.71417	0.988000	0.46212	0.124000	0.20399	5.672000	0.68102	2.215000	0.71742	0.650000	0.86243	GAG		0.353	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		Missense_Mutation	G	15803757	C	G	15803757	5	3	212	1	0	0	0	0	0	0	1	0	5196	695	24	4	1066	4	EPS8	12	15803757	Splice_Site	SNP	C	TCGA-B0-5695-01A-11D-1534-10		15803757	118048138	41	12889											
KIAA0528	9847	hgsc.bcm.edu;ucsc.edu	37	12	22606900	22606900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr12:22606900delA	ENST00000333957.4	-	24	3056	c.2801delT	c.(2800-2802)ttafs	p.L934fs	C2CD5_ENST00000396028.2_Frame_Shift_Del_p.L976fs|C2CD5_ENST00000446597.1_Frame_Shift_Del_p.L985fs|C2CD5_ENST00000544930.1_Frame_Shift_Del_p.L790fs|C2CD5_ENST00000545552.1_Frame_Shift_Del_p.L988fs|C2CD5_ENST00000542676.1_Frame_Shift_Del_p.L985fs|C2CD5_ENST00000536386.1_Frame_Shift_Del_p.L987fs	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	934					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ATTCCCTCCTAATGCAGCAAC	0.403																																																0													147	132	137					12																	22606900		2203	4300	6503	SO:0001589	frameshift_variant	0			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2801delT	12.37:g.22606900delA	ENSP00000334229:p.Leu934fs		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Frame_Shift_Del	DEL	ENST00000333957.4	37	CCDS31758.1																																																																																				0.403	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		-	22606900	A	-	22606900	7	5	212	1	0	1	0	1	0	0	0	0	8184	372	13	0	209	0	KIAA0528	12	22606900	Frame_Shift_Del	DEL	A	TCGA-B0-5695-01A-11D-1534-10	6803143	22606900	111244995	42	12890											
GNPTAB	79158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	102163955	102163955	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr12:102163955A>T	ENST00000299314.7	-	10	1390	c.1128T>A	c.(1126-1128)aaT>aaA	p.N376K	GNPTAB_ENST00000549940.1_Missense_Mutation_p.N376K	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	376					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.N376K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AGTGGCTCAAATTTCGAAAAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											140	140	140					12																	102163955		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1128T>A	12.37:g.102163955A>T	ENSP00000299314:p.Asn376Lys		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290236	0.59976	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.92199	-2.99;-2.99	5.88	0.713	0.18173	.	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	M	0.70903	2.155	0.80722	D	1	P;P	0.46987	0.741;0.888	P;P	0.56788	0.774;0.806	D	0.92515	0.6020	10	0.87932	D	0	-31.1897	11.6084	0.51045	0.5598:0.0:0.4402:0.0	.	376;376	Q3T906-2;Q3T906	.;GNPTA_HUMAN	K	376	ENSP00000299314:N376K;ENSP00000449150:N376K	ENSP00000299314:N376K	N	-	3	2	GNPTAB	100688086	0.462000	0.25791	0.802000	0.32245	0.844000	0.47949	0.897000	0.28390	0.125000	0.18397	0.482000	0.46254	AAT		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			T	102163955	A	T	102163955	3	4	212	1	0	0	0	0	1	0	0	0	6547	98	4	5	2690	5	GNPTAB	12	102163955	Missense_Mutation	SNP	A	TCGA-B0-5695-01A-11D-1534-10	79557055	102163955	31687940	43	12891											
HVCN1	84329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	111089162	111089162	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr12:111089162T>C	ENST00000356742.5	-	5	1256	c.503A>G	c.(502-504)cAc>cGc	p.H168R	HVCN1_ENST00000548312.1_Missense_Mutation_p.H168R|HVCN1_ENST00000242607.8_Missense_Mutation_p.H168R|HVCN1_ENST00000439744.2_Missense_Mutation_p.H148R			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	168					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)	p.H168R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CTCAAACTTGTGGTGAAAGAA	0.483																																																1	Substitution - Missense(1)	kidney(1)											116	113	114					12																	111089162		2203	4300	6503	SO:0001583	missense	84329			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.503A>G	12.37:g.111089162T>C	ENSP00000349181:p.His168Arg		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	t	26.4	4.731849	0.89390	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98754	0.9581	M	0.75777	2.31	0.80722	D	1	P;D	0.89917	0.947;1.0	P;D	0.85130	0.762;0.997	D	0.99811	1.1041	10	0.59425	D	0.04	-38.088	15.6225	0.76816	0.0:0.0:0.0:1.0	.	168;168	Q96D96;Q96D96-3	HVCN1_HUMAN;.	R	168;168;168;148	ENSP00000449601:H168R;ENSP00000242607:H168R;ENSP00000349181:H168R;ENSP00000412052:H148R	ENSP00000242607:H168R	H	-	2	0	HVCN1	109573545	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.013000	0.88655	2.101000	0.63845	0.398000	0.26397	CAC		0.483	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		C	111089162	T	C	111089162	3	2	212	1	0	0	0	0	1	0	0	0	7464	1696	59	3	330	3	HVCN1	12	111089162	Missense_Mutation	SNP	T	TCGA-B0-5695-01A-11D-1534-10	8925207	111089162	22762733	44	12892											
TRIP11	9321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	92470128	92470129	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr14:92470128_92470129GC>TT	ENST00000267622.4	-	11	4564_4565	c.4191_4192GC>AA	c.(4189-4194)caGCta>caAAta	p.L1398I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1398					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q1397Q(1)|p.L1398I(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCTCCTTTAGCTGCTTGATTT	0.371			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4191_4192delinsTT	14.37:g.92470128_92470129delinsTT	ENSP00000267622:p.Leu1398Ile		B2RUT2|O14689|O15154|O95949	Missense_Mutation|Silent	SNP	ENST00000267622.4	37	CCDS9899.1																																																																																				0.371	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			TT	92470129	GC	TT	92470128	3	4	212	1	0	0	0	0	1	0	0	0	16560	962	34	4	1791	4	TRIP11	14	92470128	Missense_Mutation	DNP	GC	TCGA-B0-5695-01A-11D-1534-10		92470128	14879412	45	12893											
HERC2	8924	broad.mit.edu;hgsc.bcm.edu	37	15	28387457	28387457	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr15:28387457C>A	ENST00000261609.7	-	76	11735	c.11627G>T	c.(11626-11628)aGg>aTg	p.R3876M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R3876M(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGCAGTACCTCCGGAACCA	0.532																																																1	Substitution - Missense(1)	kidney(1)											57	52	54					15																	28387457		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11627G>T	15.37:g.28387457C>A	ENSP00000261609:p.Arg3876Met			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149486	0.94645	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.63906	-0.6531	10	0.72032	D	0.01	.	20.0114	0.97452	0.0:1.0:0.0:0.0	.	3876	O95714	HERC2_HUMAN	M	3876	ENSP00000261609:R3876M	ENSP00000261609:R3876M	R	-	2	0	HERC2	26061052	1.000000	0.71417	0.993000	0.49108	0.792000	0.44763	5.771000	0.68881	2.731000	0.93534	0.650000	0.86243	AGG		0.532	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28387457	C	A	28387457	3	1	212	1	0	0	0	0	1	0	0	0	7060	681	24	4	2949	4	HERC2	15	28387457	Missense_Mutation	SNP	C	TCGA-B0-5695-01A-11D-1534-10		28387457	74143935	46	12894											
MGA	23269	hgsc.bcm.edu;ucsc.edu	37	15	42003437	42003437	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr15:42003437delC	ENST00000570161.1	+	7	2974	c.2974delC	c.(2974-2976)cagfs	p.Q992fs	MGA_ENST00000389936.4_Frame_Shift_Del_p.Q992fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.Q992fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.Q992fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.Q992fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCTAAATCTCAGGTGAAGCT	0.463																																																0													55	58	57					15																	42003437		2031	4207	6238	SO:0001589	frameshift_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2974delC	15.37:g.42003437delC	ENSP00000457035:p.Gln992fs		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	CCDS55959.1																																																																																				0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		-	42003437	C	-	42003437	7	5	212	1	0	1	0	1	0	0	0	0	9542	827	29	0	3000	0	MGA	15	42003437	Frame_Shift_Del	DEL	C	TCGA-B0-5695-01A-11D-1534-10	13615980	42003437	60527955	47	12895											
NEDD4	4734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56208589	56208589	+	Silent	SNP	A	A	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr15:56208589A>G	ENST00000508342.1	-	1	740	c.441T>C	c.(439-441)tgT>tgC	p.C147C	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.C147C|NEDD4_ENST00000506154.1_Silent_p.C147C	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	147	Ser-rich.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.C147C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGCTACCACTACAAATGGCTG	0.413																																																1	Substitution - coding silent(1)	kidney(1)											196	178	184					15																	56208589		2193	4292	6485	SO:0001819	synonymous_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.441T>C	15.37:g.56208589A>G			A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37																																																																																					0.413	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		G	56208589	A	G	56208589	2	3	212	1	0	0	0	0	0	0	0	1	10312	389	14	3		3	NEDD4	15	56208589	Silent	SNP	A	TCGA-B0-5695-01A-11D-1534-10	14205152	56208589	46322803	48	12896											
AARS	16	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	70296355	70296355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr16:70296355delC	ENST00000261772.8	-	12	1708	c.1565delG	c.(1564-1566)ggcfs	p.G522fs	RN7SL407P_ENST00000583724.1_RNA|AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		ACACTCCTGGCCTGTGGACAC	0.532																																																0													197	149	165					16																	70296355		2198	4300	6498	SO:0001589	frameshift_variant	16			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	20	protein-coding gene	gene with protein product	"alanine tRNA ligase 1, cytoplasmic"	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1565delG	16.37:g.70296355delC	ENSP00000261772:p.Gly522fs			Frame_Shift_Del	DEL	ENST00000261772.8	37	CCDS32474.1																																																																																				0.532	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		-	70296355	C	-	70296355	7	5	212	1	0	1	0	1	0	0	0	0	19	739	26	0	1381	0	AARS	16	70296355	Frame_Shift_Del	DEL	C	TCGA-B0-5695-01A-11D-1534-10		70296355	20058398	49	12897											
KCNJ12	3768	hgsc.bcm.edu	37	17	21318663	21318663	+	Silent	SNP	G	G	A	rs72846666	byFrequency	TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr17:21318663G>A	ENST00000583088.1	+	3	904	c.9G>A	c.(7-9)gcG>gcA	p.A3A	KCNJ12_ENST00000331718.5_Silent_p.A3A	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	3					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGATGACCGCGGCCAGCCGGG	0.697										Prostate(3;0.18)																																						0																																										SO:0001819	synonymous_variant	100134444			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.9G>A	17.37:g.21318663G>A			O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																				0.697	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		A	21318663	G	A	21318663	2	1	212	1	0	0	0	0	0	0	0	1	8048	1103	39	1		1	KCNJ12	17	21318663	Silent	SNP	G	TCGA-B0-5695-01A-11D-1534-10		21318663	59876547	50	12898											
AATK	9625	broad.mit.edu;hgsc.bcm.edu	37	17	79094705	79094705	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr17:79094705G>T	ENST00000326724.4	-	11	3055	c.3031C>A	c.(3031-3033)Cca>Aca	p.P1011T	AATK_ENST00000417379.1_Missense_Mutation_p.P908T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1011					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.P1011T(2)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCTTCTCTGGGCCTGAGGTG	0.662																																																2	Substitution - Missense(2)	kidney(2)											14	16	15					17																	79094705		1877	4091	5968	SO:0001583	missense	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3031C>A	17.37:g.79094705G>T	ENSP00000324196:p.Pro1011Thr		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919274	0.33908	.	.	ENSG00000181409	ENST00000326724	T	0.11495	2.77	4.93	-0.282	0.12878	.	12.534100	0.00166	N	0.000001	T	0.12178	0.0296	L	0.57536	1.79	0.09310	N	1	B	0.18863	0.031	B	0.14023	0.01	T	0.40021	-0.9585	10	0.72032	D	0.01	.	1.5774	0.02627	0.1952:0.136:0.4561:0.2128	.	1011	Q6ZMQ8	LMTK1_HUMAN	T	1011	ENSP00000324196:P1011T	ENSP00000324196:P1011T	P	-	1	0	AATK	76709300	0.000000	0.05858	0.008000	0.14137	0.024000	0.10985	-0.439000	0.06897	0.460000	0.27045	0.462000	0.41574	CCA		0.662	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		T	79094705	G	T	79094705	3	4	212	1	0	0	0	0	1	0	0	0	26	1232	43	4	1109	4	AATK	17	79094705	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10	57776042	79094705	2100505	51	12899											
EMR1	2015	hgsc.bcm.edu;ucsc.edu	37	19	6903923	6903923	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr19:6903923G>C	ENST00000312053.4	+	7	801	c.764G>C	c.(763-765)gGa>gCa	p.G255A	EMR1_ENST00000250572.8_Missense_Mutation_p.G255A|EMR1_ENST00000381404.4_Missense_Mutation_p.G203A|EMR1_ENST00000381407.5_Missense_Mutation_p.G114A|EMR1_ENST00000450315.3_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	255	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CCAAGCAATGGACAGTTGAAT	0.458																																																0													97	96	97					19																	6903923		2203	4300	6503	SO:0001583	missense	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.764G>C	19.37:g.6903923G>C	ENSP00000311545:p.Gly255Ala		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080584	0.55753	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407	T;D;T;D	0.87650	1.29;-2.28;-1.35;-2.28	3.35	3.35	0.38373	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90820	0.7117	L	0.60904	1.88	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.994;1.0	D;D;D;D	0.91635	0.982;0.999;0.94;0.996	D	0.90746	0.4653	9	0.62326	D	0.03	.	10.9392	0.47264	0.0:0.0:1.0:0.0	.	114;255;203;255	B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	A	255;255;203;255;114	ENSP00000311545:G255A;ENSP00000370811:G203A;ENSP00000250572:G255A;ENSP00000370814:G114A	ENSP00000250572:G255A	G	+	2	0	EMR1	6854923	0.363000	0.24989	0.048000	0.18961	0.197000	0.23852	4.563000	0.60823	1.811000	0.52892	0.655000	0.94253	GGA		0.458	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			C	6903923	G	C	6903923	3	2	212	1	0	0	0	0	1	0	0	0	5106	1174	41	4	790	4	EMR1	19	6903923	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10		6903923	52225060	52	12900											
LIPE	3991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42930828	42930828	+	Silent	SNP	C	C	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr19:42930828C>T	ENST00000244289.4	-	1	750	c.474G>A	c.(472-474)gcG>gcA	p.A158A	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	158					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.A158A(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TAGCCTGGGCCGCAGGTGTTG	0.567																																																1	Substitution - coding silent(1)	kidney(1)											91	89	90					19																	42930828		2203	4300	6503	SO:0001819	synonymous_variant	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.474G>A	19.37:g.42930828C>T			Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	CCDS12607.1																																																																																				0.567	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		T	42930828	C	T	42930828	2	4	212	1	0	0	0	0	0	0	0	1	8823	639	23	1		1	LIPE	19	42930828	Silent	SNP	C	TCGA-B0-5695-01A-11D-1534-10	36026905	42930828	16198155	53	12901											
SAE1	10055	hgsc.bcm.edu	37	19	47646781	47646782	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr19:47646781_47646782insT	ENST00000270225.7	+	2	197_198	c.129_130insT	c.(130-132)ttgfs	p.L44fs	SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000413379.3_Frame_Shift_Ins_p.L44fs|SAE1_ENST00000598840.1_Frame_Shift_Ins_p.L44fs|SAE1_ENST00000392776.3_Frame_Shift_Ins_p.L44fs	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	44					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCTTGTCGGCTTGAAAGGACT	0.48																																																0																																										SO:0001589	frameshift_variant	10055			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"Ubiquitin-like modifier activating enzymes"	30660	protein-coding gene	gene with protein product	"activator Of sumo 1"	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.131dupT	19.37:g.47646783_47646783dupT	ENSP00000270225:p.Leu44fs		B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Frame_Shift_Ins	INS	ENST00000270225.7	37	CCDS12696.1																																																																																				0.48	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		T	47646782	-	T	47646781	7	5	212	1	0	1	1	0	0	0	0	0	13811	784	28	0	135	0	SAE1	19	47646781	Frame_Shift_Ins	INS	-	TCGA-B0-5695-01A-11D-1534-10	4715953	47646781	11482202	54	12902											
CA11	770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49147826	49147826	+	Splice_Site	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr19:49147826C>G	ENST00000084798.4	-	3	822	c.143G>C	c.(142-144)gGg>gCg	p.G48A	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	48						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)		p.G48A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GAAAGGAGGCCCTGGGGGTGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											21	19	19					19																	49147826		2203	4300	6503	SO:0001630	splice_region_variant	770			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"Carbonic anhydrases"	1370	protein-coding gene	gene with protein product	"CA-RP XI", "carbonic anhydrase-related protein XI", "carbonic anhydrase-related protein 2"	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.143-1G>C	19.37:g.49147826C>G			O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945927	0.53079	.	.	ENSG00000063180	ENST00000084798	T	0.77358	-1.09	4.8	4.8	0.61643	Carbonic anhydrase, alpha-class, catalytic domain (3);	0.086147	0.47093	D	0.000259	D	0.83723	0.5316	M	0.69358	2.11	0.41471	D	0.988106	D	0.62365	0.991	P	0.62435	0.902	D	0.84334	0.0523	10	0.51188	T	0.08	.	10.9227	0.47174	0.1875:0.8125:0.0:0.0	.	48	O75493	CAH11_HUMAN	A	48	ENSP00000084798:G48A	ENSP00000084798:G48A	G	-	2	0	CA11	53839638	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	2.519000	0.45546	2.395000	0.81488	0.313000	0.20887	GGG		0.597	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217	Missense_Mutation	G	49147826	C	G	49147826	5	3	212	1	0	0	0	0	0	0	1	0	2514	637	22	4	871	4	CA11	19	49147826	Splice_Site	SNP	C	TCGA-B0-5695-01A-11D-1534-10	1501045	49147826	9981157	55	12903											
IZUMO1	284359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49249008	49249008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr19:49249008C>A	ENST00000332955.2	-	2	656	c.109G>T	c.(109-111)Gag>Tag	p.E37*		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	37					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E37*(1)		endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TAATCTTTCTCCAGGGACTTT	0.547																																																1	Substitution - Nonsense(1)	kidney(1)											134	136	136					19																	49249008		2203	4300	6503	SO:0001587	stop_gained	284359			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.109G>T	19.37:g.49249008C>A	ENSP00000327786:p.Glu37*		Q6Q8P6|Q6Q8P7	Nonsense_Mutation	SNP	ENST00000332955.2	37	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	C	37	6.632614	0.97722	.	.	ENSG00000182264	ENST00000332955	.	.	.	5.11	-0.606	0.11619	.	0.791331	0.11500	N	0.557831	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-8.3378	7.2546	0.26168	0.0:0.5291:0.0:0.4709	.	.	.	.	X	37	.	ENSP00000327786:E37X	E	-	1	0	IZUMO1	53940820	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.028000	0.12350	0.112000	0.17975	-0.291000	0.09656	GAG		0.547	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		A	49249008	C	A	49249008	4	1	212	1	0	0	0	0	0	1	0	0	7935	864	30	4	979	4	IZUMO1	19	49249008	Nonsense_Mutation	SNP	C	TCGA-B0-5695-01A-11D-1534-10	101182	49249008	9879975	56	12904											
PHACTR3	116154	broad.mit.edu;hgsc.bcm.edu	37	20	58342420	58342420	+	Missense_Mutation	SNP	G	G	A	rs200253435		TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr20:58342420G>A	ENST00000371015.1	+	5	1188	c.721G>A	c.(721-723)Gca>Aca	p.A241T	PHACTR3_ENST00000359926.3_Missense_Mutation_p.A238T|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A200T|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A200T|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A200T|PHACTR3_ENST00000361300.4_Intron	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	241						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.A241T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GCCACCCAAGGCAAGCTCCAA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19184	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											31	28	29					20																	58342420		2201	4299	6500	SO:0001583	missense	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.721G>A	20.37:g.58342420G>A	ENSP00000360054:p.Ala241Thr		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.07	1.249528	0.22880	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000541461;ENST00000355648;ENST00000395636	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	4.57	1.15	0.20763	.	0.515494	0.20985	N	0.082153	T	0.11367	0.0277	N	0.13043	0.29	0.29476	N	0.85672	B;B	0.17465	0.01;0.022	B;B	0.14023	0.005;0.01	T	0.25433	-1.0132	10	0.14252	T	0.57	-6.981	6.8745	0.24139	0.1771:0.0:0.6684:0.1544	.	241;238	Q96KR7;B1AKX0	PHAR3_HUMAN;.	T	238;241;200;200;200	ENSP00000353002:A238T;ENSP00000360054:A241T;ENSP00000442483:A200T;ENSP00000347866:A200T;ENSP00000378998:A200T	ENSP00000347866:A200T	A	+	1	0	PHACTR3	57775815	1.000000	0.71417	0.921000	0.36526	0.992000	0.81027	1.071000	0.30666	0.901000	0.36495	0.467000	0.42956	GCA		0.572	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		A	58342420	G	A	58342420	3	1	212	1	0	0	0	0	1	0	0	0	11813	1203	42	2	739	2	PHACTR3	20	58342420	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10		58342420	4683100	57	12905											
YTHDF1	54915	broad.mit.edu;ucsc.edu	37	20	61834018	61834018	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr20:61834018A>G	ENST00000370339.3	-	4	1615	c.1274T>C	c.(1273-1275)tTc>tCc	p.F425S	YTHDF1_ENST00000370333.4_Missense_Mutation_p.F375S|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	425	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.F425S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CATGCAGCGGAAGGCGCTGTC	0.572																																																1	Substitution - Missense(1)	kidney(1)											72	67	69					20																	61834018		2203	4300	6503	SO:0001583	missense	54915			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1274T>C	20.37:g.61834018A>G	ENSP00000359364:p.Phe425Ser		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246699	0.59103	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.37235	1.21;1.21	5.02	5.02	0.67125	YTH domain (2);	0.044961	0.85682	D	0.000000	T	0.65678	0.2714	M	0.90759	3.145	0.58432	D	0.999998	D	0.60575	0.988	D	0.66979	0.948	T	0.74609	-0.3608	10	0.87932	D	0	-28.9748	14.7491	0.69511	1.0:0.0:0.0:0.0	.	425	Q9BYJ9	YTHD1_HUMAN	S	425;375	ENSP00000359364:F425S;ENSP00000359358:F375S	ENSP00000359358:F375S	F	-	2	0	YTHDF1	61304463	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.901000	0.69861	1.896000	0.54893	0.482000	0.46254	TTC		0.572	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		G	61834018	A	G	61834018	3	3	212	1	0	0	0	0	1	0	0	0	17503	246	9	3	413	3	YTHDF1	20	61834018	Missense_Mutation	SNP	A	TCGA-B0-5695-01A-11D-1534-10	3491598	61834018	1191502	58	12906											
CLIC6	54102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	36081036	36081036	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr21:36081036C>G	ENST00000360731.3	+	5	1703	c.1703C>G	c.(1702-1704)tCc>tGc	p.S568C	CLIC6_ENST00000349499.2_Missense_Mutation_p.S550C			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	568	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.S550C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GAATCTAATTCCGCAGGAAAT	0.403																																																1	Substitution - Missense(1)	kidney(1)											75	64	67					21																	36081036		2203	4300	6503	SO:0001583	missense	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1703C>G	21.37:g.36081036C>G	ENSP00000353959:p.Ser568Cys		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		.	.	.	.	.	.	.	.	.	.	C	14.56	2.570708	0.45798	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.93712	-3.27;-3.27	4.77	4.77	0.60923	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.057415	0.64402	D	0.000001	D	0.95736	0.8613	L	0.56340	1.77	0.47584	D	0.999462	D;D	0.89917	1.0;1.0	D;D	0.76071	0.97;0.987	D	0.96123	0.9086	10	0.87932	D	0	2.0192	18.3353	0.90286	0.0:1.0:0.0:0.0	.	568;550	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	C	568;550	ENSP00000353959:S568C;ENSP00000290332:S550C	ENSP00000290332:S550C	S	+	2	0	CLIC6	35002906	0.998000	0.40836	0.930000	0.37139	0.001000	0.01503	3.887000	0.56197	2.634000	0.89283	0.655000	0.94253	TCC		0.403	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			G	36081036	C	G	36081036	3	3	212	1	0	0	0	0	1	0	0	0	3532	855	30	4	1663	4	CLIC6	21	36081036	Missense_Mutation	SNP	C	TCGA-B0-5695-01A-11D-1534-10		36081036	12048859	59	12907											
PFKL	5211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	45742915	45742915	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr21:45742915G>A	ENST00000349048.4	+	15	1535	c.1480G>A	c.(1480-1482)Gtg>Atg	p.V494M	PFKL_ENST00000403390.1_Missense_Mutation_p.V541M	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	494	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.V541M(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGCCCTGCTGGTGGTCGGTGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											147	112	124					21																	45742915		2203	4299	6502	SO:0001583	missense	5211				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1480G>A	21.37:g.45742915G>A	ENSP00000269848:p.Val494Met		Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933942	0.18206	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.82893	-1.66;-1.66	3.54	3.54	0.40534	Phosphofructokinase domain (2);	0.000000	0.64402	U	0.000002	D	0.89434	0.6714	M	0.83384	2.64	0.50039	D	0.99984	B;D	0.53619	0.425;0.961	B;P	0.60473	0.3;0.875	D	0.89687	0.3895	10	0.44086	T	0.13	-42.4452	12.9604	0.58455	0.0:0.0:1.0:0.0	.	494;541	P17858;P17858-2	K6PL_HUMAN;.	M	494;287;541	ENSP00000269848:V494M;ENSP00000384038:V541M	ENSP00000269848:V494M	V	+	1	0	PFKL	44567343	1.000000	0.71417	0.898000	0.35279	0.054000	0.15201	2.556000	0.45862	1.693000	0.51124	0.491000	0.48974	GTG		0.602	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			A	45742915	G	A	45742915	3	1	212	1	0	0	0	0	1	0	0	0	11766	1261	44	2	1538	2	PFKL	21	45742915	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10	9661879	45742915	2386980	60	12908											
PI4KA	5297	broad.mit.edu;hgsc.bcm.edu	37	22	21081564	21081564	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr22:21081564G>A	ENST00000572273.1	-	41	4951	c.4721C>T	c.(4720-4722)cCt>cTt	p.P1574L	PI4KA_ENST00000414196.3_Missense_Mutation_p.P384L|AC007308.6_ENST00000430719.1_RNA|PI4KA_ENST00000255882.6_Missense_Mutation_p.P1632L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1574	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.P1574L(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGCCGTGAGAGGGTGCGGCGG	0.662																																					GBM(136;1332 1831 3115 23601 50806)											2	Substitution - Missense(2)	kidney(2)											38	39	38					22																	21081564		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4721C>T	22.37:g.21081564G>A	ENSP00000458238:p.Pro1574Leu		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	G	26.1	4.704285	0.88924	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.64618	-0.11	5.97	4.94	0.65067	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81054	0.4743	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.84738	0.0749	10	0.87932	D	0	-18.8178	17.1167	0.86690	0.0:0.1267:0.8733:0.0	.	1574	P42356	PI4KA_HUMAN	L	1574;384	ENSP00000402981:P384L	ENSP00000255882:P1574L	P	-	2	0	PI4KA	19411564	1.000000	0.71417	0.995000	0.50966	0.601000	0.36947	9.849000	0.99510	1.503000	0.48686	0.655000	0.94253	CCT		0.662	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21081564	G	A	21081564	3	1	212	1	0	0	0	0	1	0	0	0	11875	1000	35	2	1473	2	PI4KA	22	21081564	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10		21081564	30223002	61	12909											
SF3A1	10291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30736281	30736281	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr22:30736281C>G	ENST00000215793.8	-	9	1433	c.1279G>C	c.(1279-1281)Gaa>Caa	p.E427Q	SF3A1_ENST00000439242.1_Missense_Mutation_p.E362Q	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	427					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E427Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CGCATGTGTTCCTGCATTTTG	0.567																																																1	Substitution - Missense(1)	kidney(1)											72	70	71					22																	30736281		2203	4300	6503	SO:0001583	missense	10291			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1279G>C	22.37:g.30736281C>G	ENSP00000215793:p.Glu427Gln		E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297514	0.81025	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.41400	1.0;1.05	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	L	0.59912	1.85	0.80722	D	1	P	0.52170	0.951	P	0.49637	0.617	T	0.47724	-0.9095	10	0.46703	T	0.11	-12.4606	20.6439	0.99570	0.0:1.0:0.0:0.0	.	427	Q15459	SF3A1_HUMAN	Q	362;427;324;123	ENSP00000390336:E362Q;ENSP00000215793:E427Q	ENSP00000215793:E427Q	E	-	1	0	SF3A1	29066281	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.684000	0.84104	2.884000	0.98904	0.655000	0.94253	GAA		0.567	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		G	30736281	C	G	30736281	3	3	212	1	0	0	0	0	1	0	0	0	14152	864	30	4	1134	4	SF3A1	22	30736281	Missense_Mutation	SNP	C	TCGA-B0-5695-01A-11D-1534-10	9654717	30736281	20568285	62	12910											
APOL5	80831	broad.mit.edu;hgsc.bcm.edu	37	22	36123112	36123112	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr22:36123112G>T	ENST00000249044.2	+	3	997	c.997G>T	c.(997-999)Gct>Tct	p.A333S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	333					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.A333S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GAGAGCACTTGCTAAGAAGCT	0.607																																																1	Substitution - Missense(1)	kidney(1)											31	32	32					22																	36123112		2203	4300	6503	SO:0001583	missense	80831			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.997G>T	22.37:g.36123112G>T	ENSP00000249044:p.Ala333Ser		Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727403	0.48833	.	.	ENSG00000128313	ENST00000249044	T	0.12569	2.67	3.92	2.74	0.32292	.	0.199248	0.28742	U	0.014281	T	0.30355	0.0762	M	0.76002	2.32	0.09310	N	1	D	0.65815	0.995	D	0.69307	0.963	T	0.06197	-1.0840	10	0.66056	D	0.02	.	6.0704	0.19885	0.1849:0.0:0.8151:0.0	.	333	Q9BWW9	APOL5_HUMAN	S	333	ENSP00000249044:A333S	ENSP00000249044:A333S	A	+	1	0	APOL5	34453058	0.169000	0.23002	0.001000	0.08648	0.015000	0.08874	2.245000	0.43133	0.452000	0.26830	0.655000	0.94253	GCT		0.607	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		T	36123112	G	T	36123112	3	4	212	1	0	0	0	0	1	0	0	0	809	1319	46	4	1007	4	APOL5	22	36123112	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10	5386831	36123112	15181454	63	12911											
VSIG1	340547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107304759	107304759	+	Intron	SNP	C	C	T			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chrX:107304759C>T	ENST00000217957.5	+	2	330				VSIG1_ENST00000415430.3_Silent_p.T105T	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1							integral component of membrane (GO:0016021)		p.T105T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GTAGCTGGACCTCTGAGGTAA	0.512																																																1	Substitution - coding silent(1)	kidney(1)											107	92	96					X																	107304759		692	1591	2283	SO:0001627	intron_variant	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.213+3328C>T	X.37:g.107304759C>T			C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	CCDS14535.1																																																																																				0.512	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		T	107304759	C	T	107304759	1	4	212	0	1	0	0	0	0	0	0	0	17227	668	24	2		2	VSIG1	23	107304759	Intron	SNP	C	TCGA-B0-5695-01A-11D-1534-10		107304759	47965801	64	12912											
THOC2	57187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	122769988	122769988	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5695-01A-11D-1534-10	TCGA-B0-5695-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0202c44b-88d5-435d-9c25-300ca96537d4	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chrX:122769988G>C	ENST00000245838.8	-	19	1991	c.1960C>G	c.(1960-1962)Cca>Gca	p.P654A	THOC2_ENST00000355725.4_Missense_Mutation_p.P654A|THOC2_ENST00000491737.1_Missense_Mutation_p.P539A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	654					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.P575A(1)|p.P654A(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGATCAATTGGATATTTACGA	0.323																																																2	Substitution - Missense(2)	kidney(2)											120	98	105					X																	122769988		1827	4076	5903	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1960C>G	X.37:g.122769988G>C	ENSP00000245838:p.Pro654Ala		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706034	0.48412	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000018	T	0.54967	0.1891	L	0.34521	1.04	0.80722	D	1	B;B	0.29270	0.24;0.128	B;B	0.29353	0.041;0.101	T	0.57849	-0.7740	9	0.66056	D	0.02	-8.0917	17.7	0.88292	0.0:0.0:1.0:0.0	.	579;654	B4DKZ6;Q8NI27	.;THOC2_HUMAN	A	654;654;539;579	.	ENSP00000245838:P654A	P	-	1	0	THOC2	122597669	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.941000	0.87700	2.110000	0.64415	0.415000	0.27848	CCA		0.323	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			C	122769988	G	C	122769988	3	2	212	1	0	0	0	0	1	0	0	0	15870	1174	41	4	2901	4	THOC2	23	122769988	Missense_Mutation	SNP	G	TCGA-B0-5695-01A-11D-1534-10	15465229	122769988	32500572	65	12913											
VHL	7428	hgsc.bcm.edu	37	3	10183664	10183664	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5695-01A-11W-1584-10	TCGA-B0-5695-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	06b449c9-8ada-46d7-b772-9898a5df5256	e82fdc8b-d411-410a-9b4c-f66f9077be6d	g.chr3:10183664C>T	ENST00000256474.2	+	1	973	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S	VHL_ENST00000345392.2_Missense_Mutation_p.P45S|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	45	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)			adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGAGTCCGGCCCGGAGGAACT	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	0													5	9	7					3																	10183664		2042	4013	6055	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.133C>T	3.37:g.10183664C>T	ENSP00000256474:p.Pro45Ser		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977018	0.34848	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.84442	-1.85;-1.85	2.65	-1.64	0.08318	.	1.482540	0.04888	N	0.448902	T	0.73281	0.3567	N	0.19112	0.55	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.19391	0.025;0.011	T	0.58493	-0.7627	10	0.59425	D	0.04	0.0061	3.5276	0.07765	0.148:0.5058:0.2422:0.104	.	45;45	P40337-2;P40337	.;VHL_HUMAN	S	45	ENSP00000256474:P45S;ENSP00000344757:P45S	ENSP00000256474:P45S	P	+	1	0	VHL	10158664	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.941000	0.03925	-0.451000	0.07097	-0.355000	0.07637	CCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183664	C	T	10183664	3	4	213	1	0	0	0	0	1	0	0	0	17167	623	22	2	135	2	VHL	3	10183664	Missense_Mutation	SNP	C	TCGA-B0-5695-01A-11W-1584-10		10183664	187838766	1	12914											
CA6	765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	9019022	9019022	+	Silent	SNP	T	T	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr1:9019022T>C	ENST00000377443.2	+	4	466	c.462T>C	c.(460-462)gaT>gaC	p.D154D	CA6_ENST00000377442.2_Silent_p.D94D|CA6_ENST00000377436.3_Silent_p.D154D|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	154					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.D154D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TAGCCCAAGATGCGCCGGATG	0.428																																																1	Substitution - coding silent(1)	kidney(1)											189	194	192					1																	9019022		2203	4300	6503	SO:0001819	synonymous_variant	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.462T>C	1.37:g.9019022T>C			E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	CCDS30578.1																																																																																				0.428	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			C	9019022	T	C	9019022	2	2	214	1	0	0	0	0	0	0	0	1	2523	1461	51	3		3	CA6	1	9019022	Silent	SNP	T	TCGA-B0-5696-01A-11D-1534-10		9019022	240231599	1	12915											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11217230	11217230	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr1:11217230C>T	ENST00000361445.4	-	30	4524	c.4448G>A	c.(4447-4449)tGc>tAc	p.C1483Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1483	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.C1483F(2)|p.C1483Y(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGCCTCGAGGCAGCGCATGCG	0.527																																																3	Substitution - Missense(3)	kidney(3)											191	177	182					1																	11217230		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4448G>A	1.37:g.11217230C>T	ENSP00000354558:p.Cys1483Tyr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706336	0.89018	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.70045	-0.45	5.32	5.32	0.75619	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83903	0.5355	M	0.91920	3.255	0.80722	D	1	D	0.65815	0.995	P	0.57911	0.829	D	0.87900	0.2690	10	0.87932	D	0	-11.9694	19.0009	0.92834	0.0:1.0:0.0:0.0	.	1483	P42345	MTOR_HUMAN	Y	1483	ENSP00000354558:C1483Y	ENSP00000354558:C1483Y	C	-	2	0	MTOR	11139817	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.414000	0.80117	2.486000	0.83907	0.655000	0.94253	TGC		0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11217230	C	T	11217230	3	4	214	1	0	0	0	0	1	0	0	0	9956	710	25	2	3317	2	MTOR	1	11217230	Missense_Mutation	SNP	C	TCGA-B0-5696-01A-11D-1534-10	2198208	11217230	238033391	2	12916											
FCN3	8547	hgsc.bcm.edu;ucsc.edu	37	1	27695848	27695852	+	Frame_Shift_Del	DEL	CGGTA	CGGTA	-	rs141468956|rs143244488	byFrequency	TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	CGGTA	CGGTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr1:27695848_27695852delCGGTA	ENST00000270879.4	-	8	780_784	c.775_779delTACCG	c.(775-780)taccgafs	p.YR259fs	FCN3_ENST00000354982.2_Frame_Shift_Del_p.YR248fs|MAP3K6_ENST00000493901.1_5'Flank|MAP3K6_ENST00000357582.2_5'Flank|MAP3K6_ENST00000374040.3_5'Flank	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	259	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R260Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GAGATTTGATCGGTAACAGGATGCA	0.571																																																1	Substitution - Missense(1)	endometrium(1)																																								SO:0001589	frameshift_variant	8547			D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"Fibrinogen C domain containing"	3625	protein-coding gene	gene with protein product	"Hakata antigen"	604973	"ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.775_779delTACCG	1.37:g.27695848_27695852delCGGTA	ENSP00000270879:p.Tyr259fs		Q6IBJ5|Q8WW86	Frame_Shift_Del	DEL	ENST00000270879.4	37	CCDS300.1																																																																																				0.571	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			-	27695852	CGGTA	-	27695848	7	5	214	1	0	1	0	1	0	0	0	0	5795	884	31	0	124	0	FCN3	1	27695848	Frame_Shift_Del	DEL	CGGTA	TCGA-B0-5696-01A-11D-1534-10	16478618	27695848	221554773	3	12917											
L1TD1	54596	hgsc.bcm.edu	37	1	62675673	62675674	+	Missense_Mutation	DNP	GC	GC	TA	rs141196718|rs532563709|rs386631745|rs200789118	byFrequency	TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr1:62675673_62675674GC>TA	ENST00000498273.1	+	4	1522_1523	c.1227_1228GC>TA	c.(1225-1230)gaGCcc>gaTAcc	p.409_410EP>DT	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	409	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aggaggaagagccctcagggct	0.554																																																0																																										SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	Exception_encountered	1.37:g.62675673_62675674delinsTA	ENSP00000419901:p.E409_P410delinsDT		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1																																																																																				0.554	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		TA	62675674	GC	TA	62675673	3	4	214	1	0	0	0	0	1	0	0	0	8591	962	34	4	1233	4	L1TD1	1	62675673	Missense_Mutation	DNP	GC	TCGA-B0-5696-01A-11D-1534-10	34979825	62675673	186574948	4	12918											
SHISA4	149345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201860697	201860697	+	Splice_Site	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr1:201860697G>T	ENST00000362011.6	+	4	834		c.e4+1		RP11-307B6.3_ENST00000414927.1_RNA|SHISA4_ENST00000464117.1_Splice_Site	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4							integral component of membrane (GO:0016021)		p.?(1)		kidney(1)|lung(4)	5						AACCCTGCAGGTAAGTAAGCA	0.607																																																1	Unknown(1)	kidney(1)											81	84	83					1																	201860697		2203	4300	6503	SO:0001630	splice_region_variant	149345			AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"Shisa homologs"	27139	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 40", "transmembrane protein 58", "shisa homolog 4 (Xenopus laevis)"	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.547+1G>T	1.37:g.201860697G>T			B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Splice_Site	SNP	ENST00000362011.6	37	CCDS1416.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133613	0.56828	.	.	ENSG00000198892	ENST00000362011	.	.	.	5.84	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8745	0.57982	0.0789:0.0:0.9211:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SHISA4	200127320	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	6.304000	0.72800	1.478000	0.48253	0.561000	0.74099	.		0.607	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087096.1	NM_198149	Intron	T	201860697	G	T	201860697	5	4	214	1	0	0	0	0	0	0	1	0	14288	1275	44	4	562	4	SHISA4	1	201860697	Splice_Site	SNP	G	TCGA-B0-5696-01A-11D-1534-10	139185024	201860697	47389924	5	12919											
ALMS1	7840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73651859	73651859	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr2:73651859T>A	ENST00000264448.6	+	5	1177	c.1066T>A	c.(1066-1068)Tgg>Agg	p.W356R	ALMS1_ENST00000377715.1_Missense_Mutation_p.W356R|ALMS1_ENST00000409009.1_Missense_Mutation_p.W314R	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	356					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.W356R(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGATACACAGTGGCCTGAAAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											88	80	83					2																	73651859		1868	4123	5991	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1066T>A	2.37:g.73651859T>A	ENSP00000264448:p.Trp356Arg		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	T	4.413	0.076362	0.08485	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14022	3.44;3.44;2.54	4.38	1.66	0.24008	.	1.176730	0.06545	N	0.743982	T	0.05686	0.0149	N	0.08118	0	0.22719	N	0.998817	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42207	-0.9465	10	0.09590	T	0.72	.	2.3693	0.04326	0.1484:0.4503:0.28:0.1213	.	314;356	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	R	314;356;356	ENSP00000386627:W314R;ENSP00000264448:W356R;ENSP00000366944:W356R	ENSP00000264448:W356R	W	+	1	0	ALMS1	73505367	1.000000	0.71417	0.975000	0.42487	0.672000	0.39443	0.717000	0.25851	0.381000	0.24851	-0.251000	0.11542	TGG		0.343	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73651859	T	A	73651859	3	1	214	1	0	0	0	0	1	0	0	0	535	1696	59	5	1084	5	ALMS1	2	73651859	Missense_Mutation	SNP	T	TCGA-B0-5696-01A-11D-1534-10		73651859	169547514	6	12920											
FASTKD1	79675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170411720	170411720	+	Silent	SNP	T	T	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr2:170411720T>C	ENST00000453153.2	-	7	1474	c.1128A>G	c.(1126-1128)ttA>ttG	p.L376L	FASTKD1_ENST00000453929.2_Silent_p.L376L	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	376					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.L376L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TCAACAACTCTAATGGTTTAT	0.299																																																1	Substitution - coding silent(1)	kidney(1)											83	87	86					2																	170411720		2200	4297	6497	SO:0001819	synonymous_variant	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1128A>G	2.37:g.170411720T>C			Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	CCDS33318.1																																																																																				0.299	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		C	170411720	T	C	170411720	2	2	214	1	0	0	0	0	0	0	0	1	5687	1519	53	3		3	FASTKD1	2	170411720	Silent	SNP	T	TCGA-B0-5696-01A-11D-1534-10	96759861	170411720	72787653	7	12921											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191479	10191480	+	Frame_Shift_Ins	INS	-	-	T	rs121913346		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr3:10191479_10191480insT	ENST00000256474.2	+	3	1312_1313	c.472_473insT	c.(472-474)ctgfs	p.L158fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Ins_p.L117fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158V(12)|p.L158Q(6)|p.L158P(5)|p.L158fs*16(2)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158fs*1(1)|p.L158>?(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGTGTATACTCTGAAAGAGCGA	0.5		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	38	Substitution - Missense(24)|Deletion - Frameshift(7)|Deletion - In frame(3)|Insertion - Frameshift(2)|Complex - deletion inframe(1)|Complex(1)	kidney(37)|soft_tissue(1)	GRCh37	CI024083|CI962364|CM941379|CM941380	VHL	I|M	rs121913346																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.473dupT	3.37:g.10191480_10191480dupT	ENSP00000256474:p.Leu158fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.5	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191480	-	T	10191479	7	5	214	1	0	1	1	0	0	0	0	0	17167	912	32	0	482	0	VHL	3	10191479	Frame_Shift_Ins	INS	-	TCGA-B0-5696-01A-11D-1534-10		10191479	187830951	8	12922											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643401	52643401	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr3:52643401delT	ENST00000296302.7	-	16	2496	c.2495delA	c.(2494-2496)aatfs	p.N832fs	PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N832fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N847fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N832fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N832fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N847fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N832fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.N800fs			Q86U86	PB1_HUMAN	polybromo 1	832	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACGGTAGCGATTATTTTCAAC	0.373			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													106	105	105					3																	52643401		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2495delA	3.37:g.52643401delT	ENSP00000296302:p.Asn832fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52643401	T	-	52643401	7	5	214	1	0	1	0	1	0	0	0	0	11493	1493	52	0	2465	0	PBRM1	3	52643401	Frame_Shift_Del	DEL	T	TCGA-B0-5696-01A-11D-1534-10	42451922	52643401	145379029	9	12923											
SPATA5	166378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	123868400	123868400	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr4:123868400G>T	ENST00000274008.4	+	9	1540	c.1471G>T	c.(1471-1473)Gga>Tga	p.G491*	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	491					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.G491*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGTAAGTGAAGGACAAGTGTT	0.398																																																1	Substitution - Nonsense(1)	kidney(1)											35	30	32					4																	123868400		2203	4300	6503	SO:0001587	stop_gained	166378			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1471G>T	4.37:g.123868400G>T	ENSP00000274008:p.Gly491*		C9JT97|Q86XW1|Q8NI20|Q8TDL7	Nonsense_Mutation	SNP	ENST00000274008.4	37	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	40	8.014272	0.98610	.	.	ENSG00000145375	ENST00000274008	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.7288	19.3742	0.94502	0.0:0.0:1.0:0.0	.	.	.	.	X	491	.	ENSP00000274008:G491X	G	+	1	0	SPATA5	124087850	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.623000	0.90957	2.581000	0.87130	0.650000	0.86243	GGA		0.398	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		T	123868400	G	T	123868400	4	4	214	1	0	0	0	0	0	1	0	0	15016	1001	35	4	1505	4	SPATA5	4	123868400	Nonsense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10		123868400	67285876	10	12924											
FAM105A	54491	hgsc.bcm.edu;ucsc.edu	37	5	14601213	14601213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:14601213delT	ENST00000274217.3	+	2	324	c.204delT	c.(202-204)tatfs	p.Y68fs		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	68										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TACATTTATATTCAGGGCACA	0.393																																																0													177	168	171					5																	14601213		2203	4300	6503	SO:0001589	frameshift_variant	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.204delT	5.37:g.14601213delT	ENSP00000274217:p.Tyr68fs		Q53H50|Q9H037	Frame_Shift_Del	DEL	ENST00000274217.3	37	CCDS3884.1																																																																																				0.393	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		-	14601213	T	-	14601213	7	5	214	1	0	1	0	1	0	0	0	0	5389	1500	52	0	210	0	FAM105A	5	14601213	Frame_Shift_Del	DEL	T	TCGA-B0-5696-01A-11D-1534-10		14601213	166314047	11	12925											
BDP1	55814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	70856036	70856036	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:70856036A>C	ENST00000358731.4	+	37	7731	c.7468A>C	c.(7468-7470)Aca>Cca	p.T2490P	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2490					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T2490P(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGATAGCAGAACATCGTCTTC	0.373																																																1	Substitution - Missense(1)	kidney(1)											94	86	88					5																	70856036		1918	4135	6053	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7468A>C	5.37:g.70856036A>C	ENSP00000351575:p.Thr2490Pro		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	8.758	0.922955	0.18056	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.04970	3.52	5.42	-1.39	0.08997	.	0.891913	0.09552	N	0.786763	T	0.05593	0.0147	L	0.42245	1.32	0.09310	N	0.999997	B	0.17667	0.023	B	0.16289	0.015	T	0.40608	-0.9554	10	0.37606	T	0.19	.	5.2995	0.15770	0.3319:0.3818:0.2863:0.0	.	2490	A6H8Y1	BDP1_HUMAN	P	2490;2038	ENSP00000351575:T2490P	ENSP00000351575:T2490P	T	+	1	0	BDP1	70891792	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.029000	0.03585	-0.186000	0.10533	0.477000	0.44152	ACA		0.373	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		C	70856036	A	C	70856036	3	2	214	1	0	0	0	0	1	0	0	0	1395	43	2	5	7614	5	BDP1	5	70856036	Missense_Mutation	SNP	A	TCGA-B0-5696-01A-11D-1534-10	56254823	70856036	110059224	12	12926											
MAN2A1	4124	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	109110522	109110522	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:109110522G>C	ENST00000261483.4	+	8	2282	c.1230G>C	c.(1228-1230)aaG>aaC	p.K410N		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	410					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.K410N(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACCGAAAGAAGTCAAAGCTTT	0.373																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											76	75	75					5																	109110522		2202	4300	6502	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1230G>C	5.37:g.109110522G>C	ENSP00000261483:p.Lys410Asn		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039157	0.75617	.	.	ENSG00000112893	ENST00000261483	T	0.74315	-0.83	5.95	2.95	0.34219	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	D	0.86851	0.6032	M	0.91768	3.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86779	0.1978	10	0.87932	D	0	-22.6355	8.9454	0.35756	0.3:0.0:0.7:0.0	.	410	Q16706	MA2A1_HUMAN	N	410	ENSP00000261483:K410N	ENSP00000261483:K410N	K	+	3	2	MAN2A1	109138421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.840000	0.48215	0.717000	0.32145	0.563000	0.77884	AAG		0.373	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			C	109110522	G	C	109110522	3	2	214	1	0	0	0	0	1	0	0	0	9216	1020	36	4	1260	4	MAN2A1	5	109110522	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10	38254486	109110522	71804738	13	12927											
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127645724	127645724	+	Silent	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:127645724G>A	ENST00000508053.1	-	46	6125	c.5151C>T	c.(5149-5151)tgC>tgT	p.C1717C	FBN2_ENST00000262464.4_Silent_p.C1717C			P35556	FBN2_HUMAN	fibrillin 2	1717	EGF-like 28; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1717C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTGGGCAAATGCAGGTGTAAT	0.453																																																2	Substitution - coding silent(2)	kidney(2)											103	94	97					5																	127645724		2203	4300	6503	SO:0001819	synonymous_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5151C>T	5.37:g.127645724G>A			B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127645724	G	A	127645724	2	1	214	1	0	0	0	0	0	0	0	1	5705	1311	46	2		2	FBN2	5	127645724	Silent	SNP	G	TCGA-B0-5696-01A-11D-1534-10	18535202	127645724	53269536	14	12928											
ISOC1	51015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	128441025	128441025	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:128441025G>C	ENST00000173527.5	+	3	593	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	193						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)	p.E193Q(1)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		ACCAGAAGTAGAAGCGGCATT	0.378																																																1	Substitution - Missense(1)	kidney(1)											106	105	105					5																	128441025		2048	4227	6275	SO:0001583	missense	51015			AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.577G>C	5.37:g.128441025G>C	ENSP00000173527:p.Glu193Gln		Q7Z770	Missense_Mutation	SNP	ENST00000173527.5	37	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799345	0.50208	.	.	ENSG00000066583	ENST00000506986;ENST00000514194;ENST00000173527;ENST00000513879	.	.	.	4.77	4.77	0.60923	Isochorismatase-like (3);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	N	0.05306	-0.075	0.58432	D	0.999999	B	0.14012	0.009	B	0.11329	0.006	T	0.17868	-1.0355	8	.	.	.	-21.0732	17.3347	0.87277	0.0:0.0:1.0:0.0	.	193	Q96CN7	ISOC1_HUMAN	Q	172;184;193;184	.	.	E	+	1	0	ISOC1	128468924	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	6.597000	0.74118	2.662000	0.90505	0.591000	0.81541	GAA		0.378	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		C	128441025	G	C	128441025	3	2	214	1	0	0	0	0	1	0	0	0	7864	943	33	4	587	4	ISOC1	5	128441025	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10	795301	128441025	52474235	15	12929											
ANKHD1	54882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139889648	139889648	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:139889648T>G	ENST00000360839.2	+	22	4140	c.3986T>G	c.(3985-3987)cTt>cGt	p.L1329R	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L1329R|ANKHD1_ENST00000297183.6_Missense_Mutation_p.L1329R	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1329						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L1329R(2)|p.L540R(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATACGCCACTTTGGCTGGCA	0.443																																																3	Substitution - Missense(3)	kidney(3)											149	139	142					5																	139889648		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3986T>G	5.37:g.139889648T>G	ENSP00000354085:p.Leu1329Arg		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.663578|4.663578	0.88251|0.88251	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000246149|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	.|T;T;T;T;T	.|0.79352	.|-1.26;-1.26;-1.26;-1.26;-1.26	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Ankyrin repeat-containing domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92893|0.92893	0.7739|0.7739	H|H	0.98646|0.98646	4.29|4.29	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;0.999;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.992;0.999;0.995;0.999;0.999	D|D	0.95562|0.95562	0.8630|0.8630	5|10	.|0.87932	.|D	.|0	.|.	15.9628|15.9628	0.79945|0.79945	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|540;1329;1348;1329;1329	.|E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.|.;.;.;.;ANKH1_HUMAN	V|R	555|1329;1362;1329;1329;863;540;1348;482;1329	.|ENSP00000354085:L1329R;ENSP00000297183:L1329R;ENSP00000394489:L1348R;ENSP00000405602:L482R;ENSP00000432016:L1329R	.|ENSP00000432016:L1329R	F|L	+|+	1|2	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139869832|139869832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.040000|8.040000	0.89188|0.89188	2.233000|2.233000	0.73108|0.73108	0.482000|0.482000	0.46254|0.46254	TTT|CTT		0.443	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		G	139889648	T	G	139889648	3	3	214	1	0	0	0	0	1	0	0	0	628	1609	56	5	4178	5	ANKHD1	5	139889648	Missense_Mutation	SNP	T	TCGA-B0-5696-01A-11D-1534-10	11448623	139889648	41025612	16	12930											
NMUR2	56923	broad.mit.edu;hgsc.bcm.edu	37	5	151784191	151784191	+	Missense_Mutation	SNP	G	G	A	rs374625926		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr5:151784191G>A	ENST00000255262.3	-	1	649	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	162					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.R162W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTGAGGGCCCGGCGCCGGGTG	0.632																																																1	Substitution - Missense(1)	kidney(1)						G	TRP/ARG	0,4406		0,0,2203	41	49	47		484	2.3	0.9	5		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	NMUR2	NM_020167.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	162/416	151784191	1,13005	2203	4300	6503	SO:0001583	missense	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.484C>T	5.37:g.151784191G>A	ENSP00000255262:p.Arg162Trp		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574648	0.45902	0.0	1.16E-4	ENSG00000132911	ENST00000255262	T	0.41065	1.01	5.17	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.75436	0.3849	H	0.97829	4.085	0.53688	D	0.999978	D	0.89917	1.0	D	0.81914	0.995	T	0.82426	-0.0463	10	0.87932	D	0	-19.5211	13.4717	0.61285	0.0:0.0:0.4086:0.5914	.	162	Q9GZQ4	NMUR2_HUMAN	W	162	ENSP00000255262:R162W	ENSP00000255262:R162W	R	-	1	2	NMUR2	151764384	1.000000	0.71417	0.896000	0.35187	0.161000	0.22273	4.430000	0.59907	0.136000	0.18733	0.585000	0.79938	CGG		0.632	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		A	151784191	G	A	151784191	3	1	214	1	0	0	0	0	1	0	0	0	10509	1115	39	1	779	1	NMUR2	5	151784191	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10	11894543	151784191	29131069	17	12931											
KIAA0240	23506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	42832809	42832809	+	Silent	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr6:42832809G>A	ENST00000314073.5	+	13	3041	c.2865G>A	c.(2863-2865)ctG>ctA	p.L955L	GLTSCR1L_ENST00000394168.1_Silent_p.L955L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	955								p.L955L(1)									AGAGCAAACTGTCAAGCATCC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											80	80	80					6																	42832809		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2865G>A	6.37:g.42832809G>A			A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	CCDS34451.1																																																																																				0.512	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		A	42832809	G	A	42832809	2	1	214	1	0	0	0	0	0	0	0	1	8166	1364	48	2		2	KIAA0240	6	42832809	Silent	SNP	G	TCGA-B0-5696-01A-11D-1534-10		42832809	128282258	18	12932											
GSTA4	2941	hgsc.bcm.edu;ucsc.edu	37	6	52850359	52850361	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr6:52850359_52850361delTTG	ENST00000370959.1	-	4	277_279	c.160_162delCAA	c.(160-162)caadel	p.Q54del	GSTA4_ENST00000541324.1_5'UTR|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370960.1_Intron			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	54	GST N-terminal.|Glutathione binding.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCATGGGCACTTGTTGGAACAGC	0.463																																																0																																										SO:0001651	inframe_deletion	2941			AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"Glutathione S-transferases / Soluble"	4629	protein-coding gene	gene with protein product		605450	"glutathione S-transferase A4"			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.160_162delCAA	6.37:g.52850362_52850364delTTG	ENSP00000359998:p.Gln54del		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	In_Frame_Del	DEL	ENST00000370959.1	37	CCDS4948.1																																																																																				0.463	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512		-	52850361	TTG	-	52850359	7	5	214	1	0	1	0	1	0	0	0	0	6835	1606	56	0	522	0	GSTA4	6	52850359	In_Frame_Del	DEL	TTG	TCGA-B0-5696-01A-11D-1534-10	10017550	52850359	118264708	19	12933											
MLLT4	4301	broad.mit.edu;ucsc.edu	37	6	168349093	168349093	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr6:168349093T>G	ENST00000447894.2	+	28	3745	c.3745T>G	c.(3745-3747)Tgg>Ggg	p.W1249G	MLLT4_ENST00000366806.2_Missense_Mutation_p.W1249G|MLLT4_ENST00000392108.3_Missense_Mutation_p.W1249G|MLLT4_ENST00000392112.1_Missense_Mutation_p.W1232G|MLLT4_ENST00000400822.3_Missense_Mutation_p.W1248G|MLLT4_ENST00000351017.4_Missense_Mutation_p.W1256G|MLLT4_ENST00000344191.4_Missense_Mutation_p.W1249G			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1249					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.W1249G(1)|p.W1233G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCAGAACCAGTGGCCAAATTA	0.458			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	2	Substitution - Missense(2)	kidney(2)											90	85	87					6																	168349093		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3745T>G	6.37:g.168349093T>G	ENSP00000404595:p.Trp1249Gly		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	T	19.06	3.753789	0.69648	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.05025	3.71;3.6;3.71;3.69;3.51;3.6;3.6	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	M	0.72479	2.2	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;0.993	D;D;D;P	0.91635	0.993;0.999;0.995;0.895	T	0.00605	-1.1648	10	0.54805	T	0.06	-2.0E-4	15.6454	0.77046	0.0:0.0:0.0:1.0	.	1249;1248;1249;1233	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	G	1249;1256;1249;1249;1232;1249;1248;1249	ENSP00000341118:W1249G;ENSP00000252692:W1256G;ENSP00000375956:W1249G;ENSP00000355771:W1249G;ENSP00000375960:W1232G;ENSP00000383623:W1248G;ENSP00000404595:W1249G	ENSP00000345834:W1249G	W	+	1	0	MLLT4	168091942	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.491000	0.66887	2.084000	0.62774	0.533000	0.62120	TGG		0.458	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		G	168349093	T	G	168349093	3	3	214	1	0	0	0	0	1	0	0	0	9631	1696	59	5	3855	5	MLLT4	6	168349093	Missense_Mutation	SNP	T	TCGA-B0-5696-01A-11D-1534-10	115498734	168349093	2765974	20	12934											
PPP1R9A	55607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94881334	94881334	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr7:94881334A>T	ENST00000433881.1	+	11	3023	c.2491A>T	c.(2491-2493)Aat>Tat	p.N831Y	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.N831Y|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.N831Y|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.N831Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.N853Y|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.N831Y			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	831	Interacts with TGN38. {ECO:0000250}.|Poly-Asn.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.N831Y(1)|p.N853Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGTTAACAATAATAACAACAT	0.383										HNSCC(28;0.073)																																						2	Substitution - Missense(2)	kidney(2)											101	100	101					7																	94881334		2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2491A>T	7.37:g.94881334A>T	ENSP00000398870:p.Asn831Tyr		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.897042	0.72639	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.16743	2.33;2.35;2.32;2.35;2.32;2.32	4.78	4.78	0.61160	.	0.054356	0.64402	D	0.000001	T	0.34048	0.0884	L	0.44542	1.39	0.50813	D	0.999891	D;D;D;D;D	0.89917	0.989;0.998;0.994;1.0;0.978	D;D;D;D;P	0.85130	0.92;0.979;0.983;0.997;0.862	T	0.06127	-1.0844	10	0.62326	D	0.03	.	14.6249	0.68614	1.0:0.0:0.0:0.0	.	831;831;853;831;831	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	Y	853;831;831;831;831;831	ENSP00000405514:N853Y;ENSP00000344524:N831Y;ENSP00000411342:N831Y;ENSP00000398870:N831Y;ENSP00000289495:N831Y;ENSP00000402893:N831Y	ENSP00000289495:N831Y	N	+	1	0	PPP1R9A	94719270	1.000000	0.71417	0.995000	0.50966	0.863000	0.49368	5.699000	0.68310	1.924000	0.55735	0.454000	0.30748	AAT		0.383	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		T	94881334	A	T	94881334	3	4	214	1	0	0	0	0	1	0	0	0	12383	362	13	5	2599	5	PPP1R9A	7	94881334	Missense_Mutation	SNP	A	TCGA-B0-5696-01A-11D-1534-10		94881334	64257329	21	12935											
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121651686	121651686	+	Silent	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr7:121651686G>A	ENST00000393386.2	+	12	2997	c.2586G>A	c.(2584-2586)gtG>gtA	p.V862V	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	862					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V862V(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTCTGCCAGTGGCTGGGGGTG	0.478																																																2	Substitution - coding silent(2)	kidney(2)											84	83	83					7																	121651686		2203	4300	6503	SO:0001819	synonymous_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2586G>A	7.37:g.121651686G>A			A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	CCDS34740.1																																																																																				0.478	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121651686	G	A	121651686	2	1	214	1	0	0	0	0	0	0	0	1	12820	1335	47	2		2	PTPRZ1	7	121651686	Silent	SNP	G	TCGA-B0-5696-01A-11D-1534-10	26770352	121651686	37486977	22	12936											
DEFA4	1669	broad.mit.edu;ucsc.edu	37	8	6793661	6793661	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr8:6793661A>G	ENST00000297435.2	-	3	299	c.175T>C	c.(175-177)Tca>Cca	p.S59P		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	59					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)		p.S59P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCCCTTGTTGAGCCTGGGAAC	0.512																																																1	Substitution - Missense(1)	kidney(1)											80	67	71					8																	6793661		2203	4300	6503	SO:0001583	missense	1669			X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"Defensins, alpha"	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.175T>C	8.37:g.6793661A>G	ENSP00000297435:p.Ser59Pro		Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	10.74	1.434308	0.25813	.	.	ENSG00000164821	ENST00000297435	T	0.24723	1.84	1.68	-1.76	0.08006	.	.	.	.	.	T	0.18087	0.0434	.	.	.	0.09310	N	1	P	0.47106	0.89	B	0.42916	0.402	T	0.12708	-1.0537	8	0.62326	D	0.03	.	2.8388	0.05523	0.3023:0.3132:0.3845:0.0	.	59	P12838	DEF4_HUMAN	P	59	ENSP00000297435:S59P	ENSP00000297435:S59P	S	-	1	0	DEFA4	6781071	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	-0.031000	0.12287	-0.422000	0.07405	-0.376000	0.06991	TCA		0.512	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		G	6793661	A	G	6793661	3	3	214	1	0	0	0	0	1	0	0	0	4393	304	11	3	122	3	DEFA4	8	6793661	Missense_Mutation	SNP	A	TCGA-B0-5696-01A-11D-1534-10		6793661	139570361	23	12937											
COL27A1	85301	broad.mit.edu;hgsc.bcm.edu	37	9	116931616	116931616	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr9:116931616C>T	ENST00000356083.3	+	3	2172	c.1781C>T	c.(1780-1782)cCg>cTg	p.P594L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	594	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P594L(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTATTGGCCCCGGCGCAATTC	0.652																																																1	Substitution - Missense(1)	kidney(1)											56	67	63					9																	116931616		2203	4300	6503	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1781C>T	9.37:g.116931616C>T	ENSP00000348385:p.Pro594Leu		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	8.783	0.928730	0.18131	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.92249	-2.67;-3.0	5.11	5.11	0.69529	.	.	.	.	.	D	0.93232	0.7844	L	0.32530	0.975	0.43448	D	0.995634	D;D	0.89917	1.0;1.0	D;D	0.77557	0.949;0.99	D	0.93780	0.7083	9	0.72032	D	0.01	.	14.3891	0.66965	0.0:1.0:0.0:0.0	.	594;541	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	L	594;594;541;541	ENSP00000348385:P594L;ENSP00000391328:P541L	ENSP00000348385:P594L	P	+	2	0	COL27A1	115971437	0.275000	0.24201	0.944000	0.38274	0.094000	0.18550	0.867000	0.27968	2.537000	0.85549	0.563000	0.77884	CCG		0.652	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	116931616	C	T	116931616	3	4	214	1	0	0	0	0	1	0	0	0	3687	652	23	1	1791	1	COL27A1	9	116931616	Missense_Mutation	SNP	C	TCGA-B0-5696-01A-11D-1534-10		116931616	24281815	24	12938											
ABL1	25	broad.mit.edu;ucsc.edu	37	9	133729596	133729596	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr9:133729596T>G	ENST00000318560.5	+	2	606	c.225T>G	c.(223-225)agT>agG	p.S75R		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	75	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.S75R(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TTGTGGCCAGTGGAGATAACA	0.478			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Substitution - Missense(1)	kidney(1)											110	109	109					9																	133729596		2203	4300	6503	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.225T>G	9.37:g.133729596T>G	ENSP00000323315:p.Ser75Arg		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145417	0.57044	.	.	ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560	T;T	0.38560	1.13;1.13	5.37	3.04	0.35103	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	N	0.03881	-0.34	0.58432	D	0.999999	P;P	0.42993	0.797;0.797	P;P	0.53185	0.72;0.72	T	0.11817	-1.0572	10	0.37606	T	0.19	.	8.8201	0.35020	0.0:0.1516:0.0:0.8484	.	75;112	P00519;Q59FK4	ABL1_HUMAN;.	R	94;121;75	ENSP00000361423:S94R;ENSP00000323315:S75R	ENSP00000323315:S75R	S	+	3	2	ABL1	132719417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.084000	0.30828	0.388000	0.25054	0.514000	0.50259	AGT		0.478	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		G	133729596	T	G	133729596	3	3	214	1	0	0	0	0	1	0	0	0	92	1693	59	5	371	5	ABL1	9	133729596	Missense_Mutation	SNP	T	TCGA-B0-5696-01A-11D-1534-10	16797980	133729596	7483835	25	12939											
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12009344	12009344	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr10:12009344A>G	ENST00000356352.2	-	9	2536	c.2063T>C	c.(2062-2064)tTa>tCa	p.L688S	UPF2_ENST00000397053.2_Missense_Mutation_p.L688S|UPF2_ENST00000357604.5_Missense_Mutation_p.L688S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	688	MIF4G 2.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.L688S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ACTAACCTTTAAACAATGCAG	0.254																																																1	Substitution - Missense(1)	kidney(1)											96	91	92					10																	12009344		2201	4295	6496	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2063T>C	10.37:g.12009344A>G	ENSP00000348708:p.Leu688Ser		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989256	0.74589	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.27720	1.65;1.65;1.65	5.16	5.16	0.70880	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.64402	D	0.000016	T	0.62938	0.2469	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72134	-0.4382	10	0.87932	D	0	.	14.6475	0.68772	1.0:0.0:0.0:0.0	.	688	Q9HAU5	RENT2_HUMAN	S	688	ENSP00000348708:L688S;ENSP00000350221:L688S;ENSP00000380244:L688S	ENSP00000348708:L688S	L	-	2	0	UPF2	12049350	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.702000	0.91338	1.943000	0.56356	0.482000	0.46254	TTA		0.254	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			G	12009344	A	G	12009344	3	3	214	1	0	0	0	0	1	0	0	0	17009	372	13	3	1807	3	UPF2	10	12009344	Missense_Mutation	SNP	A	TCGA-B0-5696-01A-11D-1534-10		12009344	123525403	26	12940											
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	16957110	16957110	+	Silent	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr10:16957110A>G	ENST00000377833.4	-	47	7337	c.7272T>C	c.(7270-7272)aaT>aaC	p.N2424N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2424	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.N2424N(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACAGCAGTATTGCTAGAAG	0.428																																																1	Substitution - coding silent(1)	kidney(1)											119	103	108					10																	16957110		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7272T>C	10.37:g.16957110A>G			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	16957110	A	G	16957110	2	3	214	1	0	0	0	0	0	0	0	1	4053	446	16	3		3	CUBN	10	16957110	Silent	SNP	A	TCGA-B0-5696-01A-11D-1534-10	4947766	16957110	118577637	27	12941											
MLLT10	8028	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	22023041	22023041	+	Silent	SNP	A	A	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr10:22023041A>C	ENST00000307729.7	+	20	3019	c.2841A>C	c.(2839-2841)ccA>ccC	p.P947P	MLLT10_ENST00000377072.3_Silent_p.P963P|MLLT10_ENST00000446906.2_Silent_p.P947P|MLLT10_ENST00000377059.3_Silent_p.P947P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	947					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P963P(1)|p.P947P(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCCAATGCCAGCTACACTGA	0.443			T	"MLL, PICALM, CDK6"	AL																																		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	2	Substitution - coding silent(2)	kidney(2)											112	96	101					10																	22023041		2203	4300	6503	SO:0001819	synonymous_variant	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2841A>C	10.37:g.22023041A>C			B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	CCDS55708.1																																																																																				0.443	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			C	22023041	A	C	22023041	2	2	214	1	0	0	0	0	0	0	0	1	9628	175	7	5		5	MLLT10	10	22023041	Silent	SNP	A	TCGA-B0-5696-01A-11D-1534-10	5065931	22023041	113511706	28	12942											
MYO3A	53904	broad.mit.edu;ucsc.edu	37	10	26377180	26377180	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr10:26377180G>T	ENST00000265944.5	+	15	1574	c.1408G>T	c.(1408-1410)Gta>Tta	p.V470L	MYO3A_ENST00000543632.1_Missense_Mutation_p.V470L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	470	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V470L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAACAATTTGGTAGAAGCCTT	0.308																																																1	Substitution - Missense(1)	kidney(1)											56	60	59					10																	26377180		2203	4300	6503	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1408G>T	10.37:g.26377180G>T	ENSP00000265944:p.Val470Leu		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774755	0.49786	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.81996	0.24;-1.56	5.64	5.64	0.86602	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	N	0.00525	-1.395	0.80722	D	1	B;B;B	0.22541	0.02;0.025;0.071	B;B;B	0.29785	0.036;0.055;0.107	T	0.61969	-0.6953	10	0.24483	T	0.36	.	16.3298	0.83005	0.0:0.132:0.868:0.0	.	470;470;470	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	L	470	ENSP00000265944:V470L;ENSP00000445909:V470L	ENSP00000265944:V470L	V	+	1	0	MYO3A	26417186	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.636000	0.74299	2.826000	0.97356	0.561000	0.74099	GTA		0.308	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26377180	G	T	26377180	3	4	214	1	0	0	0	0	1	0	0	0	10078	1261	44	4	1458	4	MYO3A	10	26377180	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10	4354139	26377180	109157567	29	12943											
MKI67	4288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129906188	129906188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr10:129906188C>A	ENST00000368654.3	-	13	4291	c.3916G>T	c.(3916-3918)Gag>Tag	p.E1306*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.E946*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1306	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E1306*(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATGTCTTTCTCTTCACCTACT	0.478																																																1	Substitution - Nonsense(1)	kidney(1)											242	230	234					10																	129906188		2203	4300	6503	SO:0001587	stop_gained	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3916G>T	10.37:g.129906188C>A	ENSP00000357643:p.Glu1306*		Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	43	10.176730	0.99353	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	3.17	1.23	0.21249	.	1.313530	0.05493	N	0.557023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	5.6448	0.17584	0.1936:0.7017:0.0:0.1047	.	.	.	.	X	1306;946;1305	.	ENSP00000357642:E946X	E	-	1	0	MKI67	129796178	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.219000	0.17641	0.172000	0.19760	0.561000	0.74099	GAG		0.478	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129906188	C	A	129906188	4	1	214	1	0	0	0	0	0	1	0	0	9600	922	32	4	5866	4	MKI67	10	129906188	Nonsense_Mutation	SNP	C	TCGA-B0-5696-01A-11D-1534-10	103529008	129906188	5628559	30	12944											
FANCF	2188	broad.mit.edu	37	11	22647097	22647097	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr11:22647097delC	ENST00000327470.3	-	1	290	c.260delG	c.(259-261)ggtfs	p.G87fs	AC103801.2_ENST00000428556.2_Frame_Shift_Del_p.T14fs	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	87					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GTCACAGTGACCGAGGGCCTG	0.662			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										yes	Rec		Fanconi anaemia F	11	11p15	2188	"Fanconi anemia, complementation group F"		L	0													54	61	59					11																	22647097		2203	4299	6502	SO:0001589	frameshift_variant	2188	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.260delG	11.37:g.22647097delC	ENSP00000330875:p.Gly87fs	757	Q52LM0	Frame_Shift_Del	DEL	ENST00000327470.3	37	CCDS7857.1																																																																																				0.662	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		-	22647097	C	-	22647097	7	5	214	1	0	1	0	1	0	0	0	0	5669	507	18	0	868	0	FANCF	11	22647097	Frame_Shift_Del	DEL	C	TCGA-B0-5696-01A-11D-1534-10		22647097	112359419	31	12945											
ANO3	63982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	26558968	26558968	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr11:26558968T>C	ENST00000256737.3	+	10	1844	c.992T>C	c.(991-993)aTa>aCa	p.I331T	ANO3_ENST00000525139.1_Missense_Mutation_p.I315T|ANO3_ENST00000537978.1_Missense_Mutation_p.I315T|ANO3_ENST00000531568.1_Missense_Mutation_p.I185T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	331					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.I331T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CGTAAACTTATAAACAATGGC	0.373																																																1	Substitution - Missense(1)	kidney(1)											175	167	170					11																	26558968		2203	4300	6503	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.992T>C	11.37:g.26558968T>C	ENSP00000256737:p.Ile331Thr		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291398	0.59976	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.93	4.93	0.64822	.	0.059491	0.64402	D	0.000003	T	0.67720	0.2923	M	0.75085	2.285	0.42261	D	0.99201	P;P	0.45428	0.764;0.858	B;B	0.40602	0.334;0.334	T	0.75563	-0.3274	10	0.87932	D	0	.	14.8685	0.70437	0.0:0.0:0.0:1.0	.	233;331	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	315;315;331;233;185	ENSP00000440737:I315T;ENSP00000432576:I315T;ENSP00000256737:I331T;ENSP00000432394:I185T	ENSP00000256737:I331T	I	+	2	0	ANO3	26515544	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.289000	0.78701	1.979000	0.57680	0.533000	0.62120	ATA		0.373	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		C	26558968	T	C	26558968	3	2	214	1	0	0	0	0	1	0	0	0	698	1406	49	3	1030	3	ANO3	11	26558968	Missense_Mutation	SNP	T	TCGA-B0-5696-01A-11D-1534-10	3911871	26558968	108447548	32	12946											
OR5J2	282775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55944821	55944821	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr11:55944821C>G	ENST00000312298.1	+	1	728	c.728C>G	c.(727-729)tCt>tGt	p.S243C		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S243F(1)|p.S243C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACCTGTGCCTCTCACCTGACT	0.448																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											138	124	128					11																	55944821		2201	4296	6497	SO:0001583	missense	282775			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.728C>G	11.37:g.55944821C>G	ENSP00000310788:p.Ser243Cys		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826262	0.50739	.	.	ENSG00000174957	ENST00000312298	T	0.39787	1.06	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000038	T	0.74015	0.3661	H	0.94345	3.525	0.48762	D	0.999707	D	0.89917	1.0	D	0.97110	1.0	D	0.83518	0.0084	10	0.87932	D	0	.	16.6913	0.85322	0.0:1.0:0.0:0.0	.	243	Q8NH18	OR5J2_HUMAN	C	243	ENSP00000310788:S243C	ENSP00000310788:S243C	S	+	2	0	OR5J2	55701397	0.872000	0.30054	0.984000	0.44739	0.346000	0.29079	4.687000	0.61708	2.124000	0.65301	0.591000	0.81541	TCT		0.448	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		G	55944821	C	G	55944821	3	3	214	1	0	0	0	0	1	0	0	0	11167	913	32	4	730	4	OR5J2	11	55944821	Missense_Mutation	SNP	C	TCGA-B0-5696-01A-11D-1534-10	29385853	55944821	79061695	33	12947											
PDE3A	5139	broad.mit.edu;ucsc.edu	37	12	20801757	20801757	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr12:20801757G>T	ENST00000359062.3	+	13	2741	c.2701G>T	c.(2701-2703)Gtc>Ttc	p.V901F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	901	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.V901F(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCGTTTCCTTGTCATTGAAGC	0.403																																																1	Substitution - Missense(1)	kidney(1)											125	115	119					12																	20801757		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2701G>T	12.37:g.20801757G>T	ENSP00000351957:p.Val901Phe		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852566	0.91355	.	.	ENSG00000172572	ENST00000359062	D	0.84516	-1.86	5.63	5.63	0.86233	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92727	0.7688	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93081	0.6491	10	0.87932	D	0	.	19.6772	0.95941	0.0:0.0:1.0:0.0	.	901	Q14432	PDE3A_HUMAN	F	901	ENSP00000351957:V901F	ENSP00000351957:V901F	V	+	1	0	PDE3A	20693024	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.336000	0.96533	2.653000	0.90120	0.557000	0.71058	GTC		0.403	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			T	20801757	G	T	20801757	3	4	214	1	0	0	0	0	1	0	0	0	11639	1377	48	4	2751	4	PDE3A	12	20801757	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10		20801757	113050138	34	12948											
LIMA1	51474	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50571222	50571222	+	Silent	SNP	T	T	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr12:50571222T>C	ENST00000341247.4	-	11	2054	c.1905A>G	c.(1903-1905)caA>caG	p.Q635Q	LIMA1_ENST00000552783.1_Silent_p.Q476Q|LIMA1_ENST00000394943.3_Silent_p.Q636Q|LIMA1_ENST00000552823.1_Silent_p.Q475Q|LIMA1_ENST00000547825.1_Silent_p.Q333Q|LIMA1_ENST00000552491.1_Silent_p.Q332Q|LIMA1_ENST00000552909.1_Silent_p.Q474Q	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	635					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.Q635Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CATTTTCCACTTGTTTCCTTT	0.458																																																1	Substitution - coding silent(1)	kidney(1)											283	291	288					12																	50571222		2203	4300	6503	SO:0001819	synonymous_variant	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1905A>G	12.37:g.50571222T>C			B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	37	CCDS8802.1																																																																																				0.458	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		C	50571222	T	C	50571222	2	2	214	1	0	0	0	0	0	0	0	1	8798	1606	56	3		3	LIMA1	12	50571222	Silent	SNP	T	TCGA-B0-5696-01A-11D-1534-10	29769465	50571222	83280673	35	12949											
SLITRK5	26050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	88329572	88329572	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr13:88329572G>T	ENST00000325089.6	+	2	2148	c.1929G>T	c.(1927-1929)ttG>ttT	p.L643F	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L402F	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	643					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.L643F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGGTCCGGTTGAATAGCACCG	0.612																																																1	Substitution - Missense(1)	kidney(1)											73	77	75					13																	88329572		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1929G>T	13.37:g.88329572G>T	ENSP00000366283:p.Leu643Phe		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	9.638	1.138268	0.21123	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58797	0.31;0.66	5.47	-2.11	0.07187	.	1.347340	0.04937	N	0.458023	T	0.20861	0.0502	N	0.00729	-1.24	0.18873	N	0.999987	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10965	-1.0607	9	.	.	.	1.6149	4.0727	0.09889	0.1913:0.497:0.2038:0.108	.	402;643	B4DSH5;O94991	.;SLIK5_HUMAN	F	643;402	ENSP00000366283:L643F;ENSP00000442244:L402F	.	L	+	3	2	SLITRK5	87127573	0.000000	0.05858	0.012000	0.15200	0.889000	0.51656	-0.195000	0.09546	-0.388000	0.07797	0.555000	0.69702	TTG		0.612	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			T	88329572	G	T	88329572	3	4	214	1	0	0	0	0	1	0	0	0	14752	1281	45	4	1931	4	SLITRK5	13	88329572	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10		88329572	26840306	36	12950											
ABCC4	10257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95859006	95859006	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr13:95859006G>C	ENST00000376887.4	-	8	1055	c.941C>G	c.(940-942)tCc>tGc	p.S314C	ABCC4_ENST00000431522.1_Missense_Mutation_p.S314C|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.S314C|ABCC4_ENST00000536256.1_Missense_Mutation_p.S239C	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	314	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.S314C(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TCTGAGGCAGGAACTTCTCAG	0.448																																																2	Substitution - Missense(2)	kidney(2)											151	151	151					13																	95859006		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.941C>G	13.37:g.95859006G>C	ENSP00000366084:p.Ser314Cys		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486689	0.84854	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.59	5.59	0.84812	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96160	0.8748	M	0.93898	3.47	0.80722	D	1	P;D;D;D;D	0.89917	0.933;1.0;0.999;1.0;1.0	P;D;D;D;D	0.80764	0.82;0.994;0.959;0.992;0.987	D	0.96868	0.9637	10	0.87932	D	0	.	19.1869	0.93647	0.0:0.0:1.0:0.0	.	239;314;314;314;314	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	C	314;314;239;314	ENSP00000388657:S314C;ENSP00000366084:S314C;ENSP00000442024:S239C;ENSP00000398562:S314C	ENSP00000366084:S314C	S	-	2	0	ABCC4	94657007	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.109000	0.94291	2.608000	0.88229	0.655000	0.94253	TCC		0.448	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		C	95859006	G	C	95859006	3	2	214	1	0	0	0	0	1	0	0	0	55	1174	41	4	3181	4	ABCC4	13	95859006	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10	7529434	95859006	19310872	37	12951											
FARP1	10160	broad.mit.edu	37	13	99092447	99092447	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr13:99092447A>G	ENST00000319562.6	+	23	2852	c.2587A>G	c.(2587-2589)Agc>Ggc	p.S863G	FARP1_ENST00000376586.2_Missense_Mutation_p.S894G|FARP1_ENST00000595437.1_Missense_Mutation_p.S894G	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	863					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S863G(1)|p.S894G(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAAGAGCAGCAGCCCCGCCCC	0.612																																																2	Substitution - Missense(2)	kidney(2)											95	104	101					13																	99092447		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2587A>G	13.37:g.99092447A>G	ENSP00000322926:p.Ser863Gly		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	A	1.740	-0.491819	0.04322	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.78924	-1.22;-1.04	5.08	3.23	0.37069	.	0.406537	0.26297	N	0.025183	T	0.44623	0.1302	N	0.00972	-1.085	0.23082	N	0.998325	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33854	-0.9852	10	0.08837	T	0.75	.	9.8982	0.41331	0.0738:0.0:0.7881:0.1381	.	863;894	Q9Y4F1;C9JME2	FARP1_HUMAN;.	G	894;863	ENSP00000365771:S894G;ENSP00000322926:S863G	ENSP00000322926:S863G	S	+	1	0	FARP1	97890448	1.000000	0.71417	0.708000	0.30435	0.337000	0.28794	3.960000	0.56752	0.517000	0.28361	-0.337000	0.08149	AGC		0.612	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		G	99092447	A	G	99092447	3	3	214	1	0	0	0	0	1	0	0	0	5678	188	7	3	2896	3	FARP1	13	99092447	Missense_Mutation	SNP	A	TCGA-B0-5696-01A-11D-1534-10	3233441	99092447	16077431	38	12952											
LRRC57	255252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42837393	42837393	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr15:42837393C>A	ENST00000323443.2	-	4	927	c.560G>T	c.(559-561)tGt>tTt	p.C187F	LRRC57_ENST00000563454.1_Missense_Mutation_p.C187F|LRRC57_ENST00000397130.3_Missense_Mutation_p.C187F			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	187						extracellular vesicular exosome (GO:0070062)		p.C187F(1)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		GAGCTCAAGACAATTCTCTTC	0.408																																																1	Substitution - Missense(1)	kidney(1)											95	90	92					15																	42837393		2203	4299	6502	SO:0001583	missense	255252			AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.560G>T	15.37:g.42837393C>A	ENSP00000326817:p.Cys187Phe		Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.690002	0.88735	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.51325	0.71;0.71	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79152	-0.1921	10	0.72032	D	0.01	.	19.0849	0.93200	0.0:1.0:0.0:0.0	.	187	Q8N9N7	LRC57_HUMAN	F	187	ENSP00000326817:C187F;ENSP00000380319:C187F	ENSP00000326817:C187F	C	-	2	0	LRRC57	40624685	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.264000	0.78432	2.520000	0.84964	0.557000	0.71058	TGT		0.408	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		A	42837393	C	A	42837393	3	1	214	1	0	0	0	0	1	0	0	0	9015	478	17	4	167	4	LRRC57	15	42837393	Missense_Mutation	SNP	C	TCGA-B0-5696-01A-11D-1534-10		42837393	59693999	39	12953											
ANPEP	290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90348359	90348359	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr15:90348359T>C	ENST00000300060.6	-	4	1160	c.847A>G	c.(847-849)Att>Gtt	p.I283V	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	283	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.I283V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCACTGACAATGAAGGCCAGC	0.582																																					NSCLC(30;827 977 2459 19669 26125)											1	Substitution - Missense(1)	kidney(1)											307	254	272					15																	90348359		2200	4299	6499	SO:0001583	missense	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.847A>G	15.37:g.90348359T>C	ENSP00000300060:p.Ile283Val		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	4.914	0.169827	0.09339	.	.	ENSG00000166825	ENST00000300060	T	0.03663	3.85	5.08	5.08	0.68730	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.047756	0.85682	D	0.000000	T	0.03695	0.0105	L	0.31476	0.935	0.38144	D	0.938532	B	0.24576	0.106	B	0.27500	0.08	T	0.49133	-0.8971	10	0.14252	T	0.57	.	12.8031	0.57596	0.0:0.0:0.0:1.0	.	283	P15144	AMPN_HUMAN	V	283	ENSP00000300060:I283V	ENSP00000300060:I283V	I	-	1	0	ANPEP	88149363	1.000000	0.71417	0.969000	0.41365	0.043000	0.13939	3.000000	0.49481	1.919000	0.55581	0.379000	0.24179	ATT		0.582	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			C	90348359	T	C	90348359	3	2	214	1	0	0	0	0	1	0	0	0	710	1464	51	3	2128	3	ANPEP	15	90348359	Missense_Mutation	SNP	T	TCGA-B0-5696-01A-11D-1534-10	47510966	90348359	12183033	40	12954											
IL21R	50615	broad.mit.edu;ucsc.edu	37	16	27455987	27455987	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr16:27455987A>G	ENST00000337929.3	+	6	1105	c.632A>G	c.(631-633)cAg>cGg	p.Q211R	IL21R_ENST00000395755.1_Missense_Mutation_p.Q211R|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.Q211R|IL21R_ENST00000395754.4_Missense_Mutation_p.Q211R	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	211	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.Q211R(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCCTCCTACCAGGGGACCTGG	0.582			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	1	Substitution - Missense(1)	kidney(1)											78	75	76					16																	27455987		2197	4300	6497	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.632A>G	16.37:g.27455987A>G	ENSP00000338010:p.Gln211Arg		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	A	3.168	-0.170738	0.06421	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.67865	-0.29;-0.29;-0.29	4.3	-4.84	0.03151	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.094000	0.01653	N	0.024664	T	0.47691	0.1459	N	0.25380	0.74	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25047	-1.0143	10	0.13853	T	0.58	7.0E-4	6.305	0.21133	0.2158:0.321:0.4632:0.0	.	211	Q9HBE5	IL21R_HUMAN	R	211	ENSP00000338010:Q211R;ENSP00000379104:Q211R;ENSP00000379103:Q211R	ENSP00000338010:Q211R	Q	+	2	0	IL21R	27363488	0.000000	0.05858	0.009000	0.14445	0.571000	0.35966	-0.469000	0.06648	-0.549000	0.06191	-0.441000	0.05720	CAG		0.582	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		G	27455987	A	G	27455987	3	3	214	1	0	0	0	0	1	0	0	0	7673	188	7	3	650	3	IL21R	16	27455987	Missense_Mutation	SNP	A	TCGA-B0-5696-01A-11D-1534-10		27455987	62898766	41	12955											
FANCA	2175	broad.mit.edu	37	16	89877420	89877420	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr16:89877420C>G	ENST00000389301.3	-	4	373	c.343G>C	c.(343-345)Ggg>Cgg	p.G115R	FANCA_ENST00000534992.1_Missense_Mutation_p.G115R|FANCA_ENST00000563673.1_Missense_Mutation_p.G115R|FANCA_ENST00000568369.1_Missense_Mutation_p.G115R|FANCA_ENST00000389302.3_Missense_Mutation_p.G115R|FANCA_ENST00000543736.1_Missense_Mutation_p.G115R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	115					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G115R(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCAACCATCCCGGCTGAGAGA	0.537			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	1	Substitution - Missense(1)	kidney(1)											94	101	98					16																	89877420		2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.343G>C	16.37:g.89877420C>G	ENSP00000373952:p.Gly115Arg		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	0.245	-1.010719	0.02095	.	.	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992;ENST00000543736	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.06	-0.468	0.12146	.	1.035320	0.07719	N	0.943245	T	0.13072	0.0317	N	0.00841	-1.15	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.28933	-1.0028	10	0.10111	T	0.7	-3.1194	8.3409	0.32243	0.0:0.0903:0.5224:0.3873	.	115;115;115;115;115;115	B4DRI7;Q0VAP4;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;.;FANCA_HUMAN	R	115	ENSP00000373952:G115R;ENSP00000373953:G115R;ENSP00000443675:G115R;ENSP00000443409:G115R	ENSP00000373952:G115R	G	-	1	0	FANCA	88404921	0.029000	0.19370	0.000000	0.03702	0.000000	0.00434	0.289000	0.18957	0.102000	0.17638	-1.299000	0.01334	GGG		0.537	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			G	89877420	C	G	89877420	3	3	214	1	0	0	0	0	1	0	0	0	5664	652	23	4	4189	4	FANCA	16	89877420	Missense_Mutation	SNP	C	TCGA-B0-5696-01A-11D-1534-10	62421433	89877420	477333	42	12956											
CACNA1G	8913	broad.mit.edu;hgsc.bcm.edu	37	17	48647166	48647166	+	Splice_Site	SNP	T	T	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr17:48647166T>A	ENST00000359106.5	+	4	586		c.e4+2		CACNA1G_ENST00000514079.1_Splice_Site|CACNA1G_ENST00000513964.1_Splice_Site|CACNA1G_ENST00000507609.1_Splice_Site|CACNA1G_ENST00000513689.2_Splice_Site|CACNA1G_ENST00000512389.1_Splice_Site|CACNA1G_ENST00000507336.1_Splice_Site|CACNA1G_ENST00000515411.1_Splice_Site|CACNA1G_ENST00000358244.5_Splice_Site|CACNA1G_ENST00000502264.1_Splice_Site|CACNA1G_ENST00000510366.1_Splice_Site|CACNA1G_ENST00000514717.1_Splice_Site|CACNA1G_ENST00000514181.1_Splice_Site|CACNA1G_ENST00000354983.4_Splice_Site|CACNA1G_ENST00000352832.5_Splice_Site|CACNA1G_ENST00000442258.2_Splice_Site|CACNA1G_ENST00000510115.1_Splice_Site|CACNA1G_ENST00000505165.1_Splice_Site|CACNA1G_ENST00000515765.1_Splice_Site|CACNA1G_ENST00000360761.4_Splice_Site|CACNA1G_ENST00000503485.1_Splice_Site|CACNA1G_ENST00000507510.2_Splice_Site|CACNA1G_ENST00000507896.1_Splice_Site|CACNA1G_ENST00000515165.1_Splice_Site|CACNA1G_ENST00000429973.2_Splice_Site|CACNA1G_ENST00000416767.4_Splice_Site	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.?(4)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGTGCCCAGTGAGTGACCCC	0.607																																																4	Unknown(4)	kidney(4)											20	25	23					17																	48647166		1776	3589	5365	SO:0001630	splice_region_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.586+2T>A	17.37:g.48647166T>A			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Splice_Site	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456982	0.84317	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4129	0.74941	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1G	46002165	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.002000	0.88514	2.052000	0.61016	0.334000	0.21626	.		0.607	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	Intron	A	48647166	T	A	48647166	5	1	214	1	0	0	0	0	0	0	1	0	2546	1710	59	5	602	5	CACNA1G	17	48647166	Splice_Site	SNP	T	TCGA-B0-5696-01A-11D-1534-10		48647166	32548044	43	12957											
FAM104A	84923	broad.mit.edu	37	17	71205829	71205829	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr17:71205829C>G	ENST00000403627.3	-	3	460	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	FAM104A_ENST00000405159.3_Missense_Mutation_p.E155Q|FAM104A_ENST00000580032.1_Missense_Mutation_p.E44Q|FAM104A_ENST00000583024.1_Silent_p.R106R|FAM104A_ENST00000581110.1_Silent_p.R100R|FAM104A_ENST00000583178.1_5'UTR	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	134	Ser-rich.							p.E68Q(1)|p.E155Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGCTGCCTTCCGGCCCGCTG	0.617																																																2	Substitution - Missense(2)	kidney(2)											32	26	28					17																	71205829		2161	4192	6353	SO:0001583	missense	84923			AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.400G>C	17.37:g.71205829C>G	ENSP00000384648:p.Glu134Gln		B4E339	Missense_Mutation	SNP	ENST00000403627.3	37	CCDS11693.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042603	0.75732	.	.	ENSG00000133193	ENST00000403627;ENST00000405159	T;T	0.54675	0.56;0.56	6.17	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.72317	0.3445	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.937	T	0.76490	-0.2940	10	0.87932	D	0	.	17.0431	0.86495	0.1282:0.8718:0.0:0.0	.	155;134	Q969W3-2;Q969W3	.;F104A_HUMAN	Q	134;155	ENSP00000384648:E134Q;ENSP00000384832:E155Q	ENSP00000384648:E134Q	E	-	1	0	FAM104A	68717424	1.000000	0.71417	0.184000	0.23157	0.979000	0.70002	6.434000	0.73408	1.610000	0.50200	0.655000	0.94253	GAA		0.617	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		G	71205829	C	G	71205829	3	3	214	1	0	0	0	0	1	0	0	0	5387	864	30	4	164	4	FAM104A	17	71205829	Missense_Mutation	SNP	C	TCGA-B0-5696-01A-11D-1534-10	22558663	71205829	9989381	44	12958											
SDK2	54549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	71415436	71415436	+	Silent	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr17:71415436G>T	ENST00000392650.3	-	16	2055	c.2055C>A	c.(2053-2055)ctC>ctA	p.L685L	SDK2_ENST00000388726.3_Silent_p.L685L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	685	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L685L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCTCCTCGGGGAGGGAGACCC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											44	42	42					17																	71415436		2203	4300	6503	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2055C>A	17.37:g.71415436G>T			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1																																																																																				0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		T	71415436	G	T	71415436	2	4	214	1	0	0	0	0	0	0	0	1	13975	1161	41	4		4	SDK2	17	71415436	Silent	SNP	G	TCGA-B0-5696-01A-11D-1534-10	209607	71415436	9779774	45	12959											
RPTOR	57521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78727975	78727975	+	Missense_Mutation	SNP	G	G	A	rs148973724		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr17:78727975G>A	ENST00000306801.3	+	6	1182	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	RPTOR_ENST00000570891.1_Missense_Mutation_p.A274T|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.A89T|RPTOR_ENST00000544334.2_Missense_Mutation_p.A274T	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	274					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A274T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CATCAAGATCGCCCTGCGCTG	0.677																																																1	Substitution - Missense(1)	kidney(1)						G	THR/ALA,THR/ALA	0,4406		0,0,2203	105	107	106		820,820	5.7	1	17	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RPTOR	NM_001163034.1,NM_020761.2	58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	274/1178,274/1336	78727975	2,13004	2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.820G>A	17.37:g.78727975G>A	ENSP00000307272:p.Ala274Thr		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740803	0.96873	0.0	2.33E-4	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.60040	0.22;0.23	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.988;0.998;0.979	D	0.86435	0.1763	10	0.87932	D	0	.	19.8057	0.96531	0.0:0.0:1.0:0.0	.	274;89;274	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	T	89;274;274	ENSP00000307272:A274T;ENSP00000442479:A274T	ENSP00000307272:A274T	A	+	1	0	RPTOR	76342570	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.776000	0.85560	2.682000	0.91365	0.655000	0.94253	GCC		0.677	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		A	78727975	G	A	78727975	3	1	214	1	0	0	0	0	1	0	0	0	13671	1087	38	1	842	1	RPTOR	17	78727975	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10	7312539	78727975	2467235	46	12960											
FASN	2194	broad.mit.edu;hgsc.bcm.edu	37	17	80041659	80041659	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr17:80041659G>A	ENST00000306749.2	-	30	5425	c.5207C>T	c.(5206-5208)aCg>aTg	p.T1736M	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1736	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T1736M(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTTCCCGCCCGTGTGCCACAG	0.682																																					Colon(59;314 1043 11189 28578 32273)											1	Substitution - Missense(1)	kidney(1)											44	38	40					17																	80041659		2190	4297	6487	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5207C>T	17.37:g.80041659G>A	ENSP00000304592:p.Thr1736Met		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851490	0.71719	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.09073	3.02	4.51	3.48	0.39840	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	H	0.98646	4.29	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.66976	-0.5787	10	0.87932	D	0	-16.2995	13.7217	0.62732	0.0:0.0:0.8452:0.1548	.	1736	P49327	FAS_HUMAN	M	1736;701	ENSP00000304592:T1736M	ENSP00000304592:T1736M	T	-	2	0	FASN	77634948	1.000000	0.71417	0.896000	0.35187	0.720000	0.41350	9.551000	0.98112	2.039000	0.60335	0.511000	0.50034	ACG		0.682	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		A	80041659	G	A	80041659	3	1	214	1	0	0	0	0	1	0	0	0	5685	1145	40	1	2384	1	FASN	17	80041659	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10	1313684	80041659	1153551	47	12961											
PIGN	23556	hgsc.bcm.edu;ucsc.edu	37	18	59821799	59821799	+	Silent	SNP	C	C	G	rs144304758	byFrequency	TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr18:59821799C>G	ENST00000357637.5	-	7	943	c.528G>C	c.(526-528)acG>acC	p.T176T	PIGN_ENST00000400334.3_Silent_p.T176T	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	176					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CAAAAACCCACGTATCCAGTT	0.343																																																0													141	136	138					18																	59821799		1833	4088	5921	SO:0001819	synonymous_variant	23556			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.528G>C	18.37:g.59821799C>G			Q7L8F8|Q8TC01|Q9NT05	Silent	SNP	ENST00000357637.5	37	CCDS45879.1																																																																																				0.343	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		G	59821799	C	G	59821799	2	3	214	1	0	0	0	0	0	0	0	1	11895	523	19	4		4	PIGN	18	59821799	Silent	SNP	C	TCGA-B0-5696-01A-11D-1534-10		59821799	18255449	48	12962											
RTTN	25914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	67742714	67742714	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr18:67742714G>A	ENST00000255674.6	-	33	4724	c.4438C>T	c.(4438-4440)Ctt>Ttt	p.L1480F	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.L1480F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1480					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L1480F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGATATAAAAGAGCCTGAAGG	0.418																																																1	Substitution - Missense(1)	kidney(1)											73	71	72					18																	67742714		1861	4085	5946	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4438C>T	18.37:g.67742714G>A	ENSP00000255674:p.Leu1480Phe		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109338	0.77096	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.77620	-0.43;-1.11	5.52	5.52	0.82312	.	0.132406	0.51477	D	0.000082	D	0.87192	0.6116	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88160	0.2857	10	0.87932	D	0	.	17.6306	0.88106	0.0:0.0:1.0:0.0	.	1480	Q86VV8	RTTN_HUMAN	F	1480	ENSP00000255674:L1480F;ENSP00000399520:L1480F	ENSP00000255674:L1480F	L	-	1	0	RTTN	65893694	1.000000	0.71417	0.387000	0.26183	0.757000	0.42996	4.922000	0.63404	2.585000	0.87301	0.555000	0.69702	CTT		0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		A	67742714	G	A	67742714	3	1	214	1	0	0	0	0	1	0	0	0	13743	942	33	2	2310	2	RTTN	18	67742714	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10	7920915	67742714	10334534	49	12963											
C3	718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6714022	6714022	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:6714022C>A	ENST00000245907.6	-	7	846	c.754G>T	c.(754-756)Gag>Tag	p.E252*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	252					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.E252*(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ATGGTGACCTCCAGGCCCTTC	0.607																																																1	Substitution - Nonsense(1)	kidney(1)											69	76	74					19																	6714022		2203	4300	6503	SO:0001587	stop_gained	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.754G>T	19.37:g.6714022C>A	ENSP00000245907:p.Glu252*		A7E236	Nonsense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	c	35	5.589998	0.96590	.	.	ENSG00000125730	ENST00000245907	.	.	.	4.98	-2.18	0.07037	.	2.063760	0.01705	N	0.027387	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	0.9929	0.01461	0.1715:0.2648:0.3363:0.2274	.	.	.	.	X	252	.	ENSP00000245907:E252X	E	-	1	0	C3	6665022	0.000000	0.05858	0.827000	0.32855	0.927000	0.56198	-1.027000	0.03592	0.081000	0.16988	0.298000	0.19748	GAG		0.607	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		A	6714022	C	A	6714022	4	1	214	1	0	0	0	0	0	1	0	0	2206	864	30	4	4377	4	C3	19	6714022	Nonsense_Mutation	SNP	C	TCGA-B0-5696-01A-11D-1534-10		6714022	52414961	50	12964											
C19orf45	374877	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7573131	7573131	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:7573131C>T	ENST00000361664.2	+	9	1474	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	CTD-2207O23.12_ENST00000599312.1_Intron	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	445								p.R431C(1)		endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GGGTGGACTGCGCTTCTTCTC	0.602																																																1	Substitution - Missense(1)	kidney(1)											55	54	54					19																	7573131		2203	4300	6503	SO:0001583	missense	374877			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.1333C>T	19.37:g.7573131C>T	ENSP00000355241:p.Arg445Cys		Q8N115	Missense_Mutation	SNP	ENST00000361664.2	37	CCDS12179.2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493710	0.44352	.	.	ENSG00000198723	ENST00000361664	T	0.17054	2.3	4.05	2.92	0.33932	.	0.572148	0.16805	N	0.198825	T	0.33990	0.0882	L	0.56769	1.78	0.35028	D	0.758546	D	0.89917	1.0	D	0.87578	0.998	T	0.42899	-0.9424	10	0.87932	D	0	-34.1009	9.1316	0.36848	0.0:0.7759:0.2241:0.0	.	445	Q8NA69	CS045_HUMAN	C	445	ENSP00000355241:R445C	ENSP00000355241:R445C	R	+	1	0	C19orf45	7479131	0.797000	0.28877	0.982000	0.44146	0.343000	0.28985	1.706000	0.37878	2.268000	0.75426	0.462000	0.41574	CGC		0.602	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		T	7573131	C	T	7573131	3	4	214	1	0	0	0	0	1	0	0	0	1930	768	27	1	1363	1	C19orf45	19	7573131	Missense_Mutation	SNP	C	TCGA-B0-5696-01A-11D-1534-10	859109	7573131	51555852	51	12965											
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu	37	19	31770507	31770507	+	Silent	SNP	G	G	A	rs375736734		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:31770507G>A	ENST00000240587.4	-	2	519	c.192C>T	c.(190-192)gcC>gcT	p.A64A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	64					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A64A(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AAAACTCGGCGGCCGGGGAGT	0.592																																																1	Substitution - coding silent(1)	kidney(1)						G		1,3911		0,1,1955	31	33	32		192	-11.8	0	19		32	1,8259		0,1,4129	no	coding-synonymous	TSHZ3	NM_020856.2		0,2,6084	AA,AG,GG		0.0121,0.0256,0.0164		64/1082	31770507	2,12170	1956	4130	6086	SO:0001819	synonymous_variant	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.192C>T	19.37:g.31770507G>A			Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.592	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31770507	G	A	31770507	2	1	214	1	0	0	0	0	0	0	0	1	16630	1103	39	1		1	TSHZ3	19	31770507	Silent	SNP	G	TCGA-B0-5696-01A-11D-1534-10	24197376	31770507	27358476	52	12966											
ALKBH6	84964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36504275	36504275	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:36504275G>T	ENST00000252984.7	-	3	177	c.25C>A	c.(25-27)Cca>Aca	p.P9T	ALKBH6_ENST00000378875.3_Missense_Mutation_p.P37T|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_Intron|AC002116.7_ENST00000586962.1_RNA|ALKBH6_ENST00000486389.1_Missense_Mutation_p.P9T|ALKBH6_ENST00000485128.1_Missense_Mutation_p.P9T			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	9						cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.P37T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCAGGGCTGGGACTCTGGCG	0.587																																																1	Substitution - Missense(1)	kidney(1)											166	136	146					19																	36504275		2203	4300	6503	SO:0001583	missense	84964			BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"Alkylation repair homologs"	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.25C>A	19.37:g.36504275G>T	ENSP00000252984:p.Pro9Thr		A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.154932	0.78114	.	.	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	T	0.51210	0.1661	L	0.29908	0.895	0.28877	N	0.894604	B;B;D;D	0.89917	0.058;0.244;0.974;1.0	B;B;P;D	0.79108	0.015;0.061;0.738;0.992	T	0.43032	-0.9416	8	0.44086	T	0.13	.	12.8154	0.57663	0.0:0.0:1.0:0.0	.	9;30;37;9	B0AZV3;B4E3P3;Q3KRA9-2;Q3KRA9	.;.;.;ALKB6_HUMAN	T	37;9;9;9	.	ENSP00000252984:P9T	P	-	1	0	ALKBH6	41196115	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.116000	0.50399	2.355000	0.79922	0.585000	0.79938	CCA		0.587	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	NM_032878		T	36504275	G	T	36504275	3	4	214	1	0	0	0	0	1	0	0	0	531	1232	43	4	715	4	ALKBH6	19	36504275	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10	4733768	36504275	22624708	53	12967											
CYP2A13	1553	broad.mit.edu;hgsc.bcm.edu	37	19	41601828	41601828	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr19:41601828G>T	ENST00000330436.3	+	9	1467	c.1467G>T	c.(1465-1467)atG>atT	p.M489I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	489					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.M489I(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	ACTACACCATGAGCTTCCTGC	0.652																																																1	Substitution - Missense(1)	kidney(1)											118	107	111					19																	41601828		2203	4300	6503	SO:0001583	missense	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1467G>T	19.37:g.41601828G>T	ENSP00000332679:p.Met489Ile		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396290	0.25205	.	.	ENSG00000197838	ENST00000330436	T	0.01159	5.25	3.97	0.383	0.16239	.	0.459913	0.22891	N	0.054390	T	0.00666	0.0022	N	0.03891	-0.335	0.09310	N	1	B	0.14012	0.009	B	0.17979	0.02	T	0.50162	-0.8860	10	0.28530	T	0.3	.	9.7669	0.40565	0.0:0.2724:0.589:0.1386	.	489	Q16696	CP2AD_HUMAN	I	489	ENSP00000332679:M489I	ENSP00000332679:M489I	M	+	3	0	CYP2A13	46293668	0.320000	0.24616	0.996000	0.52242	0.911000	0.54048	-0.231000	0.09069	0.887000	0.36136	0.473000	0.43528	ATG		0.652	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		T	41601828	G	T	41601828	3	4	214	1	0	0	0	0	1	0	0	0	4163	1290	45	4	1501	4	CYP2A13	19	41601828	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10	5097553	41601828	17527155	54	12968											
NCOA6	23054	hgsc.bcm.edu;ucsc.edu	37	20	33337538	33337538	+	Silent	SNP	A	A	G			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr20:33337538A>G	ENST00000374796.2	-	10	5030	c.2460T>C	c.(2458-2460)gaT>gaC	p.D820D	NCOA6_ENST00000359003.2_Silent_p.D820D			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	820	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GAATGCTAACATCAGGCATCA	0.537																																																0													114	100	105					20																	33337538		2203	4300	6503	SO:0001819	synonymous_variant	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2460T>C	20.37:g.33337538A>G			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		G	33337538	A	G	33337538	2	3	214	1	0	0	0	0	0	0	0	1	10235	214	8	3		3	NCOA6	20	33337538	Silent	SNP	A	TCGA-B0-5696-01A-11D-1534-10		33337538	29687982	55	12969											
GAB4	128954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	17449242	17449242	+	Silent	SNP	T	T	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr22:17449242T>A	ENST00000400588.1	-	5	1076	c.969A>T	c.(967-969)ggA>ggT	p.G323G	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	323								p.G323G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGCATTCCCTCCACCATGCT	0.582																																																1	Substitution - coding silent(1)	kidney(1)											113	116	115					22																	17449242		2203	4300	6503	SO:0001819	synonymous_variant	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.969A>T	22.37:g.17449242T>A				Silent	SNP	ENST00000400588.1	37	CCDS42976.1																																																																																				0.582	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		A	17449242	T	A	17449242	2	1	214	1	0	0	0	0	0	0	0	1	6153	1538	54	5		5	GAB4	22	17449242	Silent	SNP	T	TCGA-B0-5696-01A-11D-1534-10		17449242	33855324	56	12970											
SHANK3	85358	hgsc.bcm.edu;ucsc.edu	37	22	51143424	51143425	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chr22:51143424_51143425insA	ENST00000414786.2	+	16	2114_2115	c.1887_1888insA	c.(1888-1890)aagfs	p.K630fs	SHANK3_ENST00000262795.3_Frame_Shift_Ins_p.K660fs|SHANK3_ENST00000445220.2_Frame_Shift_Ins_p.K645fs			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	644	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGTCGGACACAAGCAGGTGGT	0.634																																																0																																										SO:0001589	frameshift_variant	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1889dupA	22.37:g.51143426_51143426dupA	ENSP00000464552:p.Lys630fs		D7UT47|Q8TET3	Frame_Shift_Ins	INS	ENST00000414786.2	37																																																																																					0.634	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		A	51143425	-	A	51143424	7	5	214	1	0	1	1	0	0	0	0	0	14272	477	17	0	2043	0	SHANK3	22	51143424	Frame_Shift_Ins	INS	-	TCGA-B0-5696-01A-11D-1534-10	33694182	51143424	161142	57	12971											
PRPS2	5634	broad.mit.edu;ucsc.edu	37	X	12817354	12817354	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chrX:12817354G>A	ENST00000380668.5	+	2	279	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	PRPS2_ENST00000489404.1_Missense_Mutation_p.E51K|PRPS2_ENST00000398491.2_Missense_Mutation_p.E51K	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	51					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.E51K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CGTGAGAGGGGAAGATGTCTA	0.493																																																1	Substitution - Missense(1)	kidney(1)											130	113	119					X																	12817354		2203	4300	6503	SO:0001583	missense	5634			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"PRS II", "ribose-phosphate diphosphokinase 2"	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.151G>A	X.37:g.12817354G>A	ENSP00000370043:p.Glu51Lys		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627238	0.87560	.	.	ENSG00000101911	ENST00000380663;ENST00000380668;ENST00000398491;ENST00000489404	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	L	0.37630	1.12	0.80722	D	1	B;B	0.32939	0.14;0.391	B;B	0.40329	0.247;0.326	D	0.84419	0.0570	10	0.27785	T	0.31	-20.7591	19.1045	0.93287	0.0:0.0:1.0:0.0	.	51;51	P11908;P11908-2	PRPS2_HUMAN;.	K	51	ENSP00000370038:E51K;ENSP00000370043:E51K;ENSP00000381504:E51K;ENSP00000419380:E51K	ENSP00000370038:E51K	E	+	1	0	PRPS2	12727275	1.000000	0.71417	0.730000	0.30809	0.993000	0.82548	9.273000	0.95719	2.462000	0.83206	0.513000	0.50165	GAA		0.493	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		A	12817354	G	A	12817354	3	1	214	1	0	0	0	0	1	0	0	0	12585	1175	41	2	157	2	PRPS2	23	12817354	Missense_Mutation	SNP	G	TCGA-B0-5696-01A-11D-1534-10		12817354	142453206	58	12972											
ODZ1	10178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123838862	123838862	+	Splice_Site	SNP	C	C	A			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chrX:123838862C>A	ENST00000371130.3	-	5	1079		c.e5+1		TENM1_ENST00000422452.2_Splice_Site	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1						immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.?(1)									AAAGGACTTACCAATCACATA	0.443																																																1	Unknown(1)	kidney(1)											151	136	141					X																	123838862		2203	4300	6503	SO:0001630	splice_region_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1015+1G>T	X.37:g.123838862C>A			B2RTR5|Q5JZ17	Splice_Site	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383390	0.82792	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8089	0.92050	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ODZ1	123666543	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.783000	0.85696	2.388000	0.81334	0.529000	0.55759	.		0.443	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	Intron	A	123838862	C	A	123838862	5	1	214	1	0	0	0	0	0	0	1	0	10836	521	18	4	7294	4	ODZ1	23	123838862	Splice_Site	SNP	C	TCGA-B0-5696-01A-11D-1534-10	111021508	123838862	31431698	59	12973											
TAZ	6901	broad.mit.edu;hgsc.bcm.edu	37	X	153649048	153649048	+	Missense_Mutation	SNP	C	C	G	rs372689133		TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chrX:153649048C>G	ENST00000350743.4	+	9	950	c.661C>G	c.(661-663)Cgg>Ggg	p.R221G	TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000475699.1_Missense_Mutation_p.R224G|TAZ_ENST00000299328.5_Missense_Mutation_p.R251G|TAZ_ENST00000351413.4_Missense_Mutation_p.R237G|TAZ_ENST00000369776.4_Missense_Mutation_p.R221G|TAZ_ENST00000369790.4_Missense_Mutation_p.R207G	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R251G(1)		lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTACTCGAGCGGCTCCGGGC	0.642																																																1	Substitution - Missense(1)	kidney(1)											72	68	69					X																	153649048		2203	4300	6503	SO:0001583	missense	6901			X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"Barth syndrome"	300394	"endocardial fibroelastosis 2", "cardiomyopathy, dilated 3A (X-linked)"	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.661C>G	X.37:g.153649048C>G	ENSP00000338891:p.Arg221Gly		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288021	0.23478	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000351413;ENST00000369776;ENST00000475699	D;D;D;D;D;D	0.98996	-5.28;-5.28;-5.31;-5.29;-4.96;-5.16	4.79	4.79	0.61399	.	0.482590	0.21108	N	0.080035	D	0.98419	0.9474	L	0.40543	1.245	0.27724	N	0.945012	B;B;B;B;B;D	0.69078	0.449;0.427;0.082;0.127;0.102;0.997	B;B;B;B;B;D	0.76071	0.115;0.201;0.065;0.052;0.168;0.987	D	0.95116	0.8242	10	0.30078	T	0.28	-0.1068	9.8545	0.41077	0.2042:0.7958:0.0:0.0	.	255;221;207;221;237;251	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	G	207;251;221;237;221;224	ENSP00000358805:R207G;ENSP00000299328:R251G;ENSP00000338891:R221G;ENSP00000218246:R237G;ENSP00000358791:R221G;ENSP00000419854:R224G	ENSP00000299328:R251G	R	+	1	2	TAZ	153302242	1.000000	0.71417	0.995000	0.50966	0.394000	0.30568	1.480000	0.35464	1.995000	0.58328	0.525000	0.51046	CGG		0.642	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			G	153649048	C	G	153649048	3	3	214	1	0	0	0	0	1	0	0	0	15601	759	27	4	789	4	TAZ	23	153649048	Missense_Mutation	SNP	C	TCGA-B0-5696-01A-11D-1534-10	29810186	153649048	1621512	60	12974											
PCDH11Y	83259	broad.mit.edu	37	Y	4966255	4966255	+	Splice_Site	SNP	G	G	T			TCGA-B0-5696-01A-11D-1534-10	TCGA-B0-5696-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48b270af-07f2-4cb5-ace2-e2676ffaccd9	8473e2bb-e346-4948-bb65-0f2b7b80b6c9	g.chrY:4966255G>T	ENST00000333703.4	+	5	1116		c.e5-1		PCDH11Y_ENST00000215473.6_Splice_Site|PCDH11Y_ENST00000362095.5_Splice_Site	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(3)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATGTTTTCCAGAGTCAAAACA	0.284																																																3	Unknown(3)	kidney(3)											21	17	18					Y																	4966255		602	1911	2513	SO:0001630	splice_region_variant	83259			AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.604-1G>T	Y.37:g.4966255G>T			Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Splice_Site	SNP	ENST00000333703.4	37	CCDS14776.1																																																																																				0.284	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973	Intron	T	4966255	G	T	4966255	5	4	214	1	0	0	0	0	0	0	1	0	11511	956	33	4	678	4	PCDH11Y	24	4966255	Splice_Site	SNP	G	TCGA-B0-5696-01A-11D-1534-10		4966255	54407311	61	12975											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11217290	11217290	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr1:11217290T>G	ENST00000361445.4	-	30	4464	c.4388A>C	c.(4387-4389)tAt>tCt	p.Y1463S		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1463	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.Y1463S(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTTCTTGTCATAGGCCACAAG	0.537																																																1	Substitution - Missense(1)	kidney(1)											174	144	154					1																	11217290		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4388A>C	1.37:g.11217290T>G	ENSP00000354558:p.Tyr1463Ser		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633047	0.67015	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.68624	-0.34	5.69	4.57	0.56435	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71804	0.3383	M	0.92219	3.285	0.80722	D	1	P	0.47409	0.895	B	0.38842	0.283	T	0.77800	-0.2452	10	0.87932	D	0	.	11.5379	0.50648	0.0:0.07:0.0:0.93	.	1463	P42345	MTOR_HUMAN	S	1463	ENSP00000354558:Y1463S	ENSP00000354558:Y1463S	Y	-	2	0	MTOR	11139877	1.000000	0.71417	0.695000	0.30226	0.954000	0.61252	7.622000	0.83099	0.985000	0.38656	0.533000	0.62120	TAT		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11217290	T	G	11217290	3	3	215	1	0	0	0	0	1	0	0	0	9956	1406	49	5	3377	5	MTOR	1	11217290	Missense_Mutation	SNP	T	TCGA-B0-5697-01A-11D-1534-10		11217290	238033331	1	12976											
TXLNA	200081	hgsc.bcm.edu	37	1	32658881	32658881	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr1:32658881T>C	ENST00000373609.1	+	8	1512	c.1231T>C	c.(1231-1233)Ttc>Ctc	p.F411L	TXLNA_ENST00000373610.3_Missense_Mutation_p.F411L			P40222	TXLNA_HUMAN	taxilin alpha	411					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATTCACCACATTCAAGCAGGA	0.502																																																0													115	96	102					1																	32658881		2203	4300	6503	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1231T>C	1.37:g.32658881T>C	ENSP00000362711:p.Phe411Leu		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	CCDS353.1	.	.	.	.	.	.	.	.	.	.	T	36	5.605186	0.96626	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.54866	0.55;0.55	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.76821	0.4041	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81261	-0.1013	10	0.87932	D	0	-14.2712	16.3686	0.83344	0.0:0.0:0.0:1.0	.	411	P40222	TXLNA_HUMAN	L	411	ENSP00000362712:F411L;ENSP00000362711:F411L	ENSP00000362711:F411L	F	+	1	0	TXLNA	32431468	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	8.013000	0.88655	2.330000	0.79161	0.533000	0.62120	TTC		0.502	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		C	32658881	T	C	32658881	3	2	215	1	0	0	0	0	1	0	0	0	16792	1493	52	3	1261	3	TXLNA	1	32658881	Missense_Mutation	SNP	T	TCGA-B0-5697-01A-11D-1534-10	21441591	32658881	216591740	2	12977	96	3									
TXLNA	200081	hgsc.bcm.edu;ucsc.edu	37	1	32658884	32658885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr1:32658884_32658885insC	ENST00000373609.1	+	8	1515_1516	c.1234_1235insC	c.(1234-1236)aagfs	p.K412fs	TXLNA_ENST00000373610.3_Frame_Shift_Ins_p.K412fs			P40222	TXLNA_HUMAN	taxilin alpha	412				K -> E (in Ref. 2; CAD89951). {ECO:0000305}.	B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CACCACATTCAAGCAGGAGATG	0.515																																																0																																										SO:0001589	frameshift_variant	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	Exception_encountered	1.37:g.32658884_32658885insC	ENSP00000362711:p.Lys412fs		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Frame_Shift_Ins	INS	ENST00000373609.1	37	CCDS353.1																																																																																				0.515	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		C	32658885	-	C	32658884	7	5	215	1	0	1	1	0	0	0	0	0	16792	131	5	0	1264	0	TXLNA	1	32658884	Frame_Shift_Ins	INS	-	TCGA-B0-5697-01A-11D-1534-10	3	32658884	216591737	3	12978	96	3									
TXLNA	200081	hgsc.bcm.edu;ucsc.edu	37	1	32658886	32658887	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr1:32658886_32658887delGC	ENST00000373609.1	+	8	1517_1518	c.1236_1237delGC	c.(1234-1239)aagcagfs	p.Q413fs	TXLNA_ENST00000373610.3_Frame_Shift_Del_p.Q413fs			P40222	TXLNA_HUMAN	taxilin alpha	413					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCACATTCAAGCAGGAGATGGA	0.51																																																0																																										SO:0001589	frameshift_variant	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1236_1237delGC	1.37:g.32658886_32658887delGC	ENSP00000362711:p.Gln413fs		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Frame_Shift_Del	DEL	ENST00000373609.1	37	CCDS353.1																																																																																				0.51	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		-	32658887	GC	-	32658886	7	5	215	1	0	1	0	1	0	0	0	0	16792	962	34	0	1266	0	TXLNA	1	32658886	Frame_Shift_Del	DEL	GC	TCGA-B0-5697-01A-11D-1534-10	2	32658886	216591735	4	12979	96	3									
SCMH1	22955	broad.mit.edu;hgsc.bcm.edu	37	1	41579130	41579130	+	Missense_Mutation	SNP	G	G	T	rs377356235		TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr1:41579130G>T	ENST00000326197.7	-	7	839	c.540C>A	c.(538-540)aaC>aaA	p.N180K	SCMH1_ENST00000337495.5_Missense_Mutation_p.N190K|SCMH1_ENST00000402904.2_Missense_Mutation_p.N180K|SCMH1_ENST00000372595.1_Missense_Mutation_p.N119K|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372597.1_Missense_Mutation_p.N133K|SCMH1_ENST00000397174.2_Missense_Mutation_p.N160K|SCMH1_ENST00000397171.2_Missense_Mutation_p.N119K|SCMH1_ENST00000372596.1_Missense_Mutation_p.N119K|SCMH1_ENST00000361191.5_Missense_Mutation_p.N119K|SCMH1_ENST00000361705.3_Missense_Mutation_p.N133K					sex comb on midleg homolog 1 (Drosophila)									p.N133K(1)|p.N190K(1)|p.N180K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGAAATGAGGGTTCTTCCTGT	0.512																																																3	Substitution - Missense(3)	kidney(3)											82	81	82					1																	41579130		2203	4300	6503	SO:0001583	missense	22955			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.540C>A	1.37:g.41579130G>T	ENSP00000318094:p.Asn180Lys			Missense_Mutation	SNP	ENST00000326197.7	37	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780394	0.70222	.	.	ENSG00000010803	ENST00000361705;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.72	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.90814	3.15	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.994;0.99;0.99	T	0.64601	-0.6369	10	0.52906	T	0.07	.	9.7276	0.40342	0.1581:0.0:0.8419:0.0	.	190;133;180	Q96GD3-2;Q96GD3-4;Q96GD3	.;.;SCMH1_HUMAN	K	133;180;160;119;119;133;119;190;119;180	ENSP00000354996:N133K;ENSP00000386079:N180K;ENSP00000380359:N160K;ENSP00000380356:N119K;ENSP00000354656:N119K;ENSP00000361678:N133K;ENSP00000361677:N119K;ENSP00000337352:N190K;ENSP00000361676:N119K;ENSP00000318094:N180K	ENSP00000318094:N180K	N	-	3	2	SCMH1	41351717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.752000	0.38349	1.431000	0.47355	0.557000	0.71058	AAC		0.512	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			T	41579130	G	T	41579130	3	4	215	1	0	0	0	0	1	0	0	0	13914	1252	44	4	1478	4	SCMH1	1	41579130	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10	8920244	41579130	207671491	5	12980											
SLC1A7	6512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53608095	53608095	+	Silent	SNP	C	C	T	rs267598645		TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr1:53608095C>T	ENST00000371494.4	-	1	154	c.27G>A	c.(25-27)cgG>cgA	p.R9R	SLC1A7_ENST00000371491.4_Silent_p.R9R	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	9					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R9R(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CGTCCCTCCCCCGTGCCAAGA	0.657																																					NSCLC(128;80 1811 21245 38490 51715)											1	Substitution - coding silent(1)	kidney(1)											137	85	102					1																	53608095		2203	4300	6503	SO:0001819	synonymous_variant	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.27G>A	1.37:g.53608095C>T			Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	CCDS574.1																																																																																				0.657	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		T	53608095	C	T	53608095	2	4	215	1	0	0	0	0	0	0	0	1	14443	610	22	2		2	SLC1A7	1	53608095	Silent	SNP	C	TCGA-B0-5697-01A-11D-1534-10	12028965	53608095	195642526	6	12981											
CR1	1378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207785153	207785153	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr1:207785153T>A	ENST00000367049.4	+	38	6427	c.6427T>A	c.(6427-6429)Tgc>Agc	p.C2143S	CR1_ENST00000367053.1_Missense_Mutation_p.C1693S|CR1_ENST00000367051.1_Missense_Mutation_p.C1693S|CR1_ENST00000400960.2_Missense_Mutation_p.C1693S|CR1_ENST00000367052.1_Missense_Mutation_p.C1693S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1693					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.C1698S(1)|p.C2143S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTCTCTGCACTGCACGCCCCA	0.562																																																2	Substitution - Missense(2)	kidney(2)											124	127	126					1																	207785153		1954	4137	6091	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6427T>A	1.37:g.207785153T>A	ENSP00000356016:p.Cys2143Ser		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019256	0.54576	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71	3.48	3.48	0.39840	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99269	0.9745	H	0.99668	4.69	0.09310	N	1	D;D	0.89917	1.0;0.979	D;P	0.85130	0.997;0.8	D	0.94726	0.7905	9	0.87932	D	0	.	8.6642	0.34110	0.0:0.0:0.0:1.0	.	1693;2143	P17927;E9PDY4	CR1_HUMAN;.	S	1693;1693;1693;1693;2143	ENSP00000356019:C1693S;ENSP00000356018:C1693S;ENSP00000356020:C1693S;ENSP00000383744:C1693S;ENSP00000356016:C2143S	ENSP00000356016:C2143S	C	+	1	0	CR1	205851776	0.821000	0.29204	0.030000	0.17652	0.108000	0.19459	2.070000	0.41491	1.803000	0.52742	0.459000	0.35465	TGC		0.562	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		A	207785153	T	A	207785153	3	1	215	1	0	0	0	0	1	0	0	0	3842	1580	55	5	6577	5	CR1	1	207785153	Missense_Mutation	SNP	T	TCGA-B0-5697-01A-11D-1534-10	154177058	207785153	41465468	7	12982											
RPS6KC1	26750	broad.mit.edu;ucsc.edu	37	1	213341274	213341274	+	Silent	SNP	C	C	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr1:213341274C>T	ENST00000366960.3	+	7	1059	c.909C>T	c.(907-909)atC>atT	p.I303I	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.I122I|RPS6KC1_ENST00000366959.3_Silent_p.I291I|RPS6KC1_ENST00000543354.1_Silent_p.I6I	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	303	MIT.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.I303I(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAGAAAGTATCTCTAGTCTTT	0.423																																																1	Substitution - coding silent(1)	kidney(1)											165	135	145					1																	213341274		2203	4300	6503	SO:0001819	synonymous_variant	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.909C>T	1.37:g.213341274C>T			B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	ENST00000366960.3	37	CCDS1513.1																																																																																				0.423	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		T	213341274	C	T	213341274	2	4	215	1	0	0	0	0	0	0	0	1	13664	903	32	2		2	RPS6KC1	1	213341274	Silent	SNP	C	TCGA-B0-5697-01A-11D-1534-10	5556121	213341274	35909347	8	12983											
KMO	8564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	241723981	241723981	+	Silent	SNP	C	C	G			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr1:241723981C>G	ENST00000366559.4	+	6	689	c.378C>G	c.(376-378)ccC>ccG	p.P126P	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Silent_p.P126P|KMO_ENST00000366557.4_Silent_p.P126P	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.P126P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AGAAATACCCCAATGTGAAAA	0.383																																																1	Substitution - coding silent(1)	kidney(1)											96	94	95					1																	241723981		2203	4300	6503	SO:0001819	synonymous_variant	8564			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.378C>G	1.37:g.241723981C>G				Silent	SNP	ENST00000366559.4	37	CCDS1618.1																																																																																				0.383	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		G	241723981	C	G	241723981	2	3	215	1	0	0	0	0	0	0	0	1	8426	581	21	4		4	KMO	1	241723981	Silent	SNP	C	TCGA-B0-5697-01A-11D-1534-10	28382707	241723981	7526640	9	12984											
OR2T2	401992	broad.mit.edu;hgsc.bcm.edu	37	1	248616344	248616344	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr1:248616344G>A	ENST00000342927.3	+	1	268	c.246G>A	c.(244-246)atG>atA	p.M82I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M82I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCCAAGATGCTCCAGGACC	0.527																																																1	Substitution - Missense(1)	kidney(1)											140	165	157					1																	248616344		2203	4297	6500	SO:0001583	missense	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.246G>A	1.37:g.248616344G>A	ENSP00000343062:p.Met82Ile		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	g	9.659	1.143721	0.21205	.	.	ENSG00000196240	ENST00000342927	T	0.05513	3.43	3.48	0.404	0.16355	GPCR, rhodopsin-like superfamily (1);	0.115594	0.39687	N	0.001287	T	0.06462	0.0166	M	0.68593	2.085	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.33954	-0.9848	10	0.87932	D	0	.	1.391	0.02250	0.2055:0.1681:0.4544:0.172	.	82	Q6IF00	OR2T2_HUMAN	I	82	ENSP00000343062:M82I	ENSP00000343062:M82I	M	+	3	0	OR2T2	246682967	0.000000	0.05858	0.172000	0.22920	0.932000	0.56968	-0.050000	0.11904	-0.101000	0.12219	0.298000	0.19748	ATG		0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		A	248616344	G	A	248616344	3	1	215	1	0	0	0	0	1	0	0	0	11022	1319	46	2	248	2	OR2T2	1	248616344	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10	6892363	248616344	634277	10	12985											
DNMT3A	1788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	25458658	25458658	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr2:25458658delA	ENST00000264709.3	-	22	2852	c.2515delT	c.(2515-2517)tccfs	p.S839fs	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.S839fs|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.S650fs|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.S616fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	839	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTTATGGAGTTTGACCTC	0.458			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													187	167	174					2																	25458658		2203	4300	6503	SO:0001589	frameshift_variant	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2515delT	2.37:g.25458658delA	ENSP00000264709:p.Ser839fs		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	ENST00000264709.3	37	CCDS33157.1																																																																																				0.458	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		-	25458658	A	-	25458658	7	5	215	1	0	1	0	1	0	0	0	0	4678	304	11	0	231	0	DNMT3A	2	25458658	Frame_Shift_Del	DEL	A	TCGA-B0-5697-01A-11D-1534-10		25458658	217740715	11	12986											
DNAH6	1768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	84756081	84756081	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr2:84756081T>A	ENST00000237449.6	+	3	461	c.453T>A	c.(451-453)caT>caA	p.H151Q	DNAH6_ENST00000398278.2_Missense_Mutation_p.H151Q|DNAH6_ENST00000389394.3_Missense_Mutation_p.H151Q|DNAH6_ENST00000468661.1_Intron			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	151	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H151Q(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AACTGCCACATACTGGTATTG	0.408																																																1	Substitution - Missense(1)	kidney(1)											131	100	110					2																	84756081		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.453T>A	2.37:g.84756081T>A	ENSP00000237449:p.His151Gln		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	5.094	0.203041	0.09704	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.22539	1.95;2.08;1.95	4.97	-7.13	0.01532	.	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38929	-0.9638	9	0.28530	T	0.3	.	8.9562	0.35818	0.0:0.1939:0.5249:0.2812	.	151	Q9C0G6	DYH6_HUMAN	Q	151	ENSP00000374045:H151Q;ENSP00000381326:H151Q;ENSP00000237449:H151Q	ENSP00000237449:H151Q	H	+	3	2	DNAH6	84609592	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.663000	0.05299	-0.948000	0.03668	-0.466000	0.05196	CAT		0.408	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		A	84756081	T	A	84756081	3	1	215	1	0	0	0	0	1	0	0	0	4607	1403	49	5	463	5	DNAH6	2	84756081	Missense_Mutation	SNP	T	TCGA-B0-5697-01A-11D-1534-10	59297423	84756081	158443292	12	12987											
GLB1	2720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33087643	33087643	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr3:33087643T>G	ENST00000399402.3	-	10	1078	c.947A>C	c.(946-948)aAg>aCg	p.K316T	GLB1_ENST00000445488.2_Missense_Mutation_p.K394T|GLB1_ENST00000307377.8_Missense_Mutation_p.K215T|GLB1_ENST00000307363.5_Missense_Mutation_p.K346T	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	346			Y -> C (in GM1G1). {ECO:0000269|PubMed:1907800}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.K346T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				AGCAAAATACTTCTCAGTGAG	0.522																																																1	Substitution - Missense(1)	kidney(1)											84	87	86					3																	33087643		2044	4195	6239	SO:0001583	missense	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.947A>C	3.37:g.33087643T>G	ENSP00000382333:p.Lys316Thr		B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507388	0.85282	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34	5.2	5.2	0.72013	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99396	0.9787	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98664	1.0685	10	0.87932	D	0	-27.1432	15.0314	0.71710	0.0:0.0:0.0:1.0	.	346;215;346;394	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	T	316;346;394;215	ENSP00000382333:K316T;ENSP00000306920:K346T;ENSP00000393377:K394T;ENSP00000305920:K215T	ENSP00000306920:K346T	K	-	2	0	GLB1	33062647	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.415000	0.80131	2.090000	0.63153	0.379000	0.24179	AAG		0.522	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		G	33087643	T	G	33087643	3	3	215	1	0	0	0	0	1	0	0	0	6429	1609	56	5	1024	5	GLB1	3	33087643	Missense_Mutation	SNP	T	TCGA-B0-5697-01A-11D-1534-10		33087643	164934787	13	12988											
SEPT11	55752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77941776	77941776	+	Silent	SNP	T	T	G			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr4:77941776T>G	ENST00000264893.6	+	7	1107	c.906T>G	c.(904-906)ctT>ctG	p.L302L	SEPT11_ENST00000502584.1_Silent_p.L302L|SEPT11_ENST00000510515.1_Silent_p.L312L|SEPT11_ENST00000541121.1_Silent_p.L312L|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000505788.1_Silent_p.L302L	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	302	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.L302L(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GCTGTAAGCTTGAAGAGATGG	0.512																																																1	Substitution - coding silent(1)	kidney(1)											96	80	85					4																	77941776		2203	4300	6503	SO:0001819	synonymous_variant	55752			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.906T>G	4.37:g.77941776T>G			B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Silent	SNP	ENST00000264893.6	37	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	T	7.309	0.614586	0.14129	.	.	ENSG00000138758	ENST00000506731	T	0.67345	-0.26	5.53	-8.43	0.00953	.	0.092093	0.47093	D	0.000253	T	0.61677	0.2366	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66148	-0.5996	7	0.87932	D	0	.	5.6107	0.17404	0.0653:0.2101:0.367:0.3576	.	.	.	.	W	31	ENSP00000423103:L31W	ENSP00000423103:L31W	L	+	2	0	SEPT11	78160800	0.001000	0.12720	0.720000	0.30636	0.589000	0.36550	-2.287000	0.01151	-1.600000	0.01603	-1.063000	0.02288	TTG		0.512	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		G	77941776	T	G	77941776	2	3	215	1	0	0	0	0	0	0	0	1	14067	1799	63	5		5	SEPT11	4	77941776	Silent	SNP	T	TCGA-B0-5697-01A-11D-1534-10		77941776	113212500	14	12989											
PTPN13	5783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87684097	87684097	+	Silent	SNP	T	T	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr4:87684097T>A	ENST00000411767.2	+	24	3834	c.3771T>A	c.(3769-3771)tcT>tcA	p.S1257S	PTPN13_ENST00000511467.1_Silent_p.S1257S|PTPN13_ENST00000316707.6_Silent_p.S1066S|PTPN13_ENST00000427191.2_Silent_p.S1238S|PTPN13_ENST00000436978.1_Silent_p.S1257S			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1257					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.S1257S(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCAGCTTGTCTCAAAGCCAGG	0.542																																																1	Substitution - coding silent(1)	kidney(1)											71	73	72					4																	87684097		1916	4135	6051	SO:0001819	synonymous_variant	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3771T>A	4.37:g.87684097T>A			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	CCDS47094.1																																																																																				0.542	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			A	87684097	T	A	87684097	2	1	215	1	0	0	0	0	0	0	0	1	12788	1538	54	5		5	PTPN13	4	87684097	Silent	SNP	T	TCGA-B0-5697-01A-11D-1534-10	9742321	87684097	103470179	15	12990											
NEUROG2	63973	hgsc.bcm.edu	37	4	113435835	113435835	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr4:113435835G>C	ENST00000313341.3	-	2	1123	c.797C>G	c.(796-798)cCc>cGc	p.P266R	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	266					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CCTGGCTATGGGGAGGTGAGG	0.622																																																0													26	28	27					4																	113435835		2202	4298	6500	SO:0001583	missense	63973			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"Basic helix-loop-helix proteins"	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.797C>G	4.37:g.113435835G>C	ENSP00000317333:p.Pro266Arg		Q8N416	Missense_Mutation	SNP	ENST00000313341.3	37	CCDS3698.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655533	0.29425	.	.	ENSG00000178403	ENST00000313341	D	0.92752	-3.1	4.46	3.59	0.41128	.	0.000000	0.45867	D	0.000327	D	0.91848	0.7420	L	0.27053	0.805	0.41352	D	0.987371	D	0.76494	0.999	D	0.73380	0.98	D	0.91689	0.5364	10	0.72032	D	0.01	-17.9808	10.0775	0.42368	0.0:0.2041:0.7959:0.0	.	266	Q9H2A3	NGN2_HUMAN	R	266	ENSP00000317333:P266R	ENSP00000317333:P266R	P	-	2	0	NEUROG2	113655284	0.006000	0.16342	0.687000	0.30102	0.877000	0.50540	1.121000	0.31283	1.041000	0.40125	0.655000	0.94253	CCC		0.622	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		C	113435835	G	C	113435835	3	2	215	1	0	0	0	0	1	0	0	0	10355	1232	43	4	25	4	NEUROG2	4	113435835	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10	25751738	113435835	77718441	16	12991											
ANK2	287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	114275680	114275680	+	Missense_Mutation	SNP	C	C	T	rs148760530		TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr4:114275680C>T	ENST00000357077.4	+	38	5959	c.5906C>T	c.(5905-5907)aCa>aTa	p.T1969I	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T1936I|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1969	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T1969I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTGGCAAAACAGAAAAGCAA	0.512																																																1	Substitution - Missense(1)	kidney(1)						C	,ILE/THR,	0,4406		0,0,2203	92	97	95		,5906,	4.5	0.8	4	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,89,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,	,1969/3958,	114275680	1,13005	2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5906C>T	4.37:g.114275680C>T	ENSP00000349588:p.Thr1969Ile		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225233	0.39300	0.0	1.16E-4	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65916	-0.18;-0.17	6.17	4.46	0.54185	.	0.618223	0.15326	N	0.268288	T	0.52629	0.1746	N	0.22421	0.69	0.20307	N	0.999916	P;P	0.50272	0.933;0.919	P;P	0.48704	0.462;0.587	T	0.36261	-0.9755	9	.	.	.	.	8.2485	0.31704	0.1288:0.7363:0.0:0.135	.	1936;1969	Q01484;Q01484-4	ANK2_HUMAN;.	I	1969;1936	ENSP00000349588:T1969I;ENSP00000264366:T1936I	.	T	+	2	0	ANK2	114495129	0.128000	0.22383	0.828000	0.32881	0.927000	0.56198	0.891000	0.28309	0.940000	0.37473	0.655000	0.94253	ACA		0.512	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114275680	C	T	114275680	3	4	215	1	0	0	0	0	1	0	0	0	621	478	17	2	6121	2	ANK2	4	114275680	Missense_Mutation	SNP	C	TCGA-B0-5697-01A-11D-1534-10	839845	114275680	76878596	17	12992											
LRBA	987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	151511868	151511868	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr4:151511868C>G	ENST00000357115.3	-	40	6466	c.6223G>C	c.(6223-6225)Gcc>Ccc	p.A2075P	LRBA_ENST00000510413.1_Missense_Mutation_p.A2064P|LRBA_ENST00000535741.1_Missense_Mutation_p.A2064P|LRBA_ENST00000507224.1_Missense_Mutation_p.A2064P	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2075						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A2075P(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATTTACCGGCAAGATTCTCT	0.418																																																1	Substitution - Missense(1)	kidney(1)											107	105	106					4																	151511868		2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6223G>C	4.37:g.151511868C>G	ENSP00000349629:p.Ala2075Pro		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.64|16.64	3.180236|3.180236	0.57800|0.57800	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|T	0.57107|0.48836	0.85;1.0;0.85;0.42|0.8	5.85|5.85	1.26|1.26	0.21427|0.21427	.|.	0.139726|.	0.28901|.	U|.	0.013778|.	T|T	0.39489|0.39489	0.1080|0.1080	L|L	0.38175|0.38175	1.15|1.15	0.41172|0.41172	D|D	0.98617|0.98617	B;B|.	0.31153|.	0.31;0.012|.	B;B|.	0.24974|.	0.057;0.007|.	T|T	0.24083|0.24083	-1.0170|-1.0170	10|7	0.41790|0.59425	T|D	0.15|0.04	.|.	3.4437|3.4437	0.07473|0.07473	0.171:0.3425:0.0:0.4865|0.171:0.3425:0.0:0.4865	.|.	2075;2064|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	P|F	2064;2064;2075;2064|716	ENSP00000446299:A2064P;ENSP00000421552:A2064P;ENSP00000349629:A2075P;ENSP00000422180:A2064P|ENSP00000426669:L716F	ENSP00000349629:A2075P|ENSP00000426669:L716F	A|L	-|-	1|3	0|2	LRBA|LRBA	151731318|151731318	0.998000|0.998000	0.40836|0.40836	0.087000|0.087000	0.20705|0.20705	0.909000|0.909000	0.53808|0.53808	2.161000|2.161000	0.42358|0.42358	-0.011000|-0.011000	0.14247|0.14247	0.557000|0.557000	0.71058|0.71058	GCC|TTG		0.418	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			G	151511868	C	G	151511868	3	3	215	1	0	0	0	0	1	0	0	0	8933	710	25	4	2444	4	LRBA	4	151511868	Missense_Mutation	SNP	C	TCGA-B0-5697-01A-11D-1534-10	37236188	151511868	39642408	18	12993											
C5orf33	133686	broad.mit.edu	37	5	36241678	36241680	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	CCA	CCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr5:36241678_36241680delCCA	ENST00000381937.4	-	1	220_222	c.221_223delTGG	c.(220-225)gtggcc>gcc	p.V74del	NADK2_ENST00000506945.1_Intron|NADK2_ENST00000397338.1_5'Flank|NADK2_ENST00000282512.3_Intron|NADK2_ENST00000514504.1_In_Frame_Del_p.V74del	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	74					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										GTGGTTTTGGCCACCACCACCAC	0.744																																																0									,	10,3310		1,8,1651					,	3.3	1			9	37,7299		0,37,3631	no	intron,coding	NADKD1	NM_153013.3,NM_001085411.1	,	1,45,5282	A1A1,A1R,RR		0.5044,0.3012,0.4411	,	,		47,10609				SO:0001651	inframe_deletion	0			BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.221_223delTGG	5.37:g.36241687_36241689delCCA	ENSP00000371362:p.Val74del		B5MC93|Q6UTX5|Q96NM0	In_Frame_Del	DEL	ENST00000381937.4	37	CCDS47197.1																																																																																				0.744	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		-	36241680	CCA	-	36241678	7	5	215	1	0	1	0	1	0	0	0	0	2294	739	26	0	1153	0	C5orf33	5	36241678	In_Frame_Del	DEL	CCA	TCGA-B0-5697-01A-11D-1534-10		36241678	144673582	19	12994											
EGR1	1958	broad.mit.edu;hgsc.bcm.edu	37	5	137802682	137802682	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr5:137802682G>A	ENST00000239938.4	+	2	816	c.544G>A	c.(544-546)Gcc>Acc	p.A182T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	182					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A182T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCTCCTCCGCCTCCGCCTC	0.652																																																1	Substitution - Missense(1)	kidney(1)											111	114	113					5																	137802682		2203	4300	6503	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.544G>A	5.37:g.137802682G>A	ENSP00000239938:p.Ala182Thr			Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932384	0.92389	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.20598	2.06	4.23	4.23	0.50019	.	0.072868	0.56097	D	0.000024	T	0.13114	0.0318	N	0.14661	0.345	0.25062	N	0.991055	B	0.06786	0.001	B	0.09377	0.004	T	0.18116	-1.0347	10	0.59425	D	0.04	-23.8891	10.8733	0.46896	0.0:0.0:0.1586:0.8413	.	182	P18146	EGR1_HUMAN	T	182	ENSP00000239938:A182T	ENSP00000239938:A182T	A	+	1	0	EGR1	137830581	0.797000	0.28877	0.132000	0.22025	0.700000	0.40528	1.159000	0.31749	0.507000	0.28148	-0.824000	0.03097	GCC		0.652	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		A	137802682	G	A	137802682	3	1	215	1	0	0	0	0	1	0	0	0	4973	1087	38	1	550	1	EGR1	5	137802682	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10	101561004	137802682	43112578	20	12995											
ZMAT2	153527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140085215	140085215	+	Silent	SNP	G	G	T	rs143727913	byFrequency	TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr5:140085215G>T	ENST00000274712.3	+	6	601	c.474G>T	c.(472-474)gcG>gcT	p.A158A		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	158						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A158A(1)		breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aggccaaagcgtacaagaaag	0.468																																																1	Substitution - coding silent(1)	kidney(1)											123	108	113					5																	140085215		2203	4300	6503	SO:0001819	synonymous_variant	153527			AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"Zinc fingers, matrin-type"	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.474G>T	5.37:g.140085215G>T				Silent	SNP	ENST00000274712.3	37	CCDS4239.1																																																																																				0.468	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723		T	140085215	G	T	140085215	2	4	215	1	0	0	0	0	0	0	0	1	17697	1132	40	4		4	ZMAT2	5	140085215	Silent	SNP	G	TCGA-B0-5697-01A-11D-1534-10	2282533	140085215	40830045	21	12996											
BTNL8	79908	broad.mit.edu;hgsc.bcm.edu	37	5	180377360	180377360	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr5:180377360T>A	ENST00000340184.4	+	8	1525	c.1319T>A	c.(1318-1320)tTg>tAg	p.L440*	BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Nonsense_Mutation_p.L256*|BTNL8_ENST00000400707.3_Nonsense_Mutation_p.L315*|BTNL8_ENST00000505126.1_Nonsense_Mutation_p.L233*|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000511704.1_Nonsense_Mutation_p.L324*	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	440	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.L440*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGGCTTATTGAGGCCCTAC	0.463																																																1	Substitution - Nonsense(1)	kidney(1)											179	144	156					5																	180377360		1888	3814	5702	SO:0001587	stop_gained	79908			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1319T>A	5.37:g.180377360T>A	ENSP00000342197:p.Leu440*		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Nonsense_Mutation	SNP	ENST00000340184.4	37	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243363	0.79912	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	.	.	.	1.52	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0658	0.25151	0.0:0.0:0.0:1.0	.	.	.	.	X	440;315;324;233;256	.	ENSP00000342197:L440X	L	+	2	0	BTNL8	180309966	0.002000	0.14202	0.035000	0.18076	0.272000	0.26649	1.232000	0.32636	0.951000	0.37770	0.352000	0.21897	TTG		0.463	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		A	180377360	T	A	180377360	4	1	215	1	0	0	0	0	0	1	0	0	1569	1821	63	5	1505	5	BTNL8	5	180377360	Nonsense_Mutation	SNP	T	TCGA-B0-5697-01A-11D-1534-10	40292145	180377360	537900	22	12997											
ZNF184	7738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27420477	27420477	+	Silent	SNP	G	G	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr6:27420477G>A	ENST00000211936.6	-	6	1145	c.861C>T	c.(859-861)ttC>ttT	p.F287F	ZNF184_ENST00000377419.1_Silent_p.F287F	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F287F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GACCCTCAATGAAGCCTTTTC	0.378																																																2	Substitution - coding silent(2)	cervix(1)|kidney(1)											77	80	79					6																	27420477		2203	4300	6503	SO:0001819	synonymous_variant	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.861C>T	6.37:g.27420477G>A			B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	CCDS4624.1																																																																																				0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		A	27420477	G	A	27420477	2	1	215	1	0	0	0	0	0	0	0	1	17756	1281	45	2		2	ZNF184	6	27420477	Silent	SNP	G	TCGA-B0-5697-01A-11D-1534-10		27420477	143694590	23	12998											
PHF3	23469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	64421671	64421671	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr6:64421671A>G	ENST00000262043.3	+	16	4527	c.4187A>G	c.(4186-4188)aAt>aGt	p.N1396S	PHF3_ENST00000393387.1_Missense_Mutation_p.N1396S			Q92576	PHF3_HUMAN	PHD finger protein 3	1396					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N1396S(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAGGAAGAAAATGACTTTTTT	0.368																																					GBM(135;136 1820 29512 34071 46235)											1	Substitution - Missense(1)	kidney(1)											93	105	101					6																	64421671		2202	4299	6501	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4187A>G	6.37:g.64421671A>G	ENSP00000262043:p.Asn1396Ser		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	9.262	1.043496	0.19748	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.44881	0.91;2.16;2.16	5.95	2.3	0.28687	.	0.523755	0.15992	N	0.234775	T	0.12347	0.0300	L	0.33485	1.01	0.37335	D	0.910142	B	0.18461	0.028	B	0.12156	0.007	T	0.10222	-1.0639	10	0.16896	T	0.51	-14.156	9.1746	0.37105	0.791:0.0:0.209:0.0	.	1396	Q92576	PHF3_HUMAN	S	665;1396;1396	ENSP00000425338:N665S;ENSP00000262043:N1396S;ENSP00000377048:N1396S	ENSP00000262043:N1396S	N	+	2	0	PHF3	64479630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.277000	0.58939	0.165000	0.19558	0.533000	0.62120	AAT		0.368	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			G	64421671	A	G	64421671	3	3	215	1	0	0	0	0	1	0	0	0	11838	101	4	3	4245	3	PHF3	6	64421671	Missense_Mutation	SNP	A	TCGA-B0-5697-01A-11D-1534-10	37001194	64421671	106693396	24	12999											
DDO	8528	broad.mit.edu;hgsc.bcm.edu	37	6	110714419	110714419	+	Silent	SNP	C	C	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr6:110714419C>T	ENST00000368924.3	-	5	684	c.669G>A	c.(667-669)aaG>aaA	p.K223K	DDO_ENST00000368923.3_Silent_p.K164K	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	195					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.K223K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CAGGGAAAATCTTTGAGTCTC	0.502																																																1	Substitution - coding silent(1)	kidney(1)											108	117	114					6																	110714419		2203	4300	6503	SO:0001819	synonymous_variant	8528			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.669G>A	6.37:g.110714419C>T			A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	ENST00000368924.3	37	CCDS5082.1																																																																																				0.502	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			T	110714419	C	T	110714419	2	4	215	1	0	0	0	0	0	0	0	1	4336	912	32	2		2	DDO	6	110714419	Silent	SNP	C	TCGA-B0-5697-01A-11D-1534-10	46292748	110714419	60400648	25	13000											
PARK2	5071	broad.mit.edu;ucsc.edu	37	6	161781136	161781136	+	Silent	SNP	T	T	C			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr6:161781136T>C	ENST00000366898.1	-	11	1371	c.1269A>G	c.(1267-1269)gtA>gtG	p.V423V	PARK2_ENST00000338468.3_Silent_p.V232V|PARK2_ENST00000366896.1_Silent_p.V274V|PARK2_ENST00000366894.1_Silent_p.V232V|PARK2_ENST00000366897.1_Silent_p.V395V	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	423					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.V423V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTTCCACTGGTACATGGCAGC	0.522																																																1	Substitution - coding silent(1)	kidney(1)											238	228	231					6																	161781136		2203	4300	6503	SO:0001819	synonymous_variant	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1269A>G	6.37:g.161781136T>C			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	ENST00000366898.1	37	CCDS5281.1																																																																																				0.522	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			C	161781136	T	C	161781136	2	2	215	1	0	0	0	0	0	0	0	1	11451	1625	57	3		3	PARK2	6	161781136	Silent	SNP	T	TCGA-B0-5697-01A-11D-1534-10	51066717	161781136	9333931	26	13001											
WASL	8976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123335918	123335918	+	Splice_Site	SNP	G	G	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr7:123335918G>A	ENST00000223023.4	-	7	963	c.631C>T	c.(631-633)Cac>Tac	p.H211Y		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	211	CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.H211Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTCCAATGTGCCTGAAGTAG	0.308																																																1	Substitution - Missense(1)	kidney(1)											70	69	69					7																	123335918		2203	4297	6500	SO:0001630	splice_region_variant	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.630-1C>T	7.37:g.123335918G>A			A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853098	0.71719	.	.	ENSG00000106299	ENST00000223023	D	0.98968	-5.28	5.09	5.09	0.68999	Wiscott-Aldrich syndrome, C-terminal (1);PAK-box/P21-Rho-binding (3);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.93939	3.475	0.80722	D	1	P	0.48162	0.906	P	0.51487	0.671	D	0.99835	1.1057	10	0.87932	D	0	-9.9412	18.8389	0.92174	0.0:0.0:1.0:0.0	.	211	O00401	WASL_HUMAN	Y	211	ENSP00000223023:H211Y	ENSP00000223023:H211Y	H	-	1	0	WASL	123123154	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	7.708000	0.84633	2.524000	0.85096	0.467000	0.42956	CAC		0.308	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	Missense_Mutation	A	123335918	G	A	123335918	5	1	215	1	0	0	0	0	0	0	1	0	17261	1333	46	2	906	2	WASL	7	123335918	Splice_Site	SNP	G	TCGA-B0-5697-01A-11D-1534-10		123335918	35802745	27	13002											
HEY1	23462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	80677934	80677934	+	Missense_Mutation	SNP	G	G	A	rs201298116		TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr8:80677934G>A	ENST00000354724.3	-	5	603	c.404C>T	c.(403-405)gCg>gTg	p.A135V	HEY1_ENST00000523976.1_Missense_Mutation_p.A45V|HEY1_ENST00000435063.2_5'UTR|RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000337919.5_Missense_Mutation_p.A139V	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	135	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A139V(1)|p.A135V(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			CAGATAACGCGCAACTTCTGC	0.507			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	2	Substitution - Missense(2)	kidney(2)											62	64	63					8																	80677934		2203	4300	6503	SO:0001583	missense	23462			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"Basic helix-loop-helix proteins"	4880	protein-coding gene	gene with protein product		602953	"hairy/enhancer-of-split related with YRPW motif 1"			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.404C>T	8.37:g.80677934G>A	ENSP00000346761:p.Ala135Val	1200	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Missense_Mutation	SNP	ENST00000354724.3	37	CCDS6225.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259285	0.80246	.	.	ENSG00000164683	ENST00000354724;ENST00000542205;ENST00000337919;ENST00000523976;ENST00000518733	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.98	4.98	0.66077	Orange subgroup (1);Orange (2);	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	N	0.25789	0.76	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.76575	0.844;0.988	T	0.53422	-0.8441	10	0.17369	T	0.5	-25.4928	18.6141	0.91296	0.0:0.0:1.0:0.0	.	135;139	Q9Y5J3;Q9Y5J3-2	HEY1_HUMAN;.	V	135;139;139;45;97	ENSP00000346761:A135V;ENSP00000338272:A139V;ENSP00000429792:A45V;ENSP00000429705:A97V	ENSP00000338272:A139V	A	-	2	0	HEY1	80840489	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.558000	0.82253	2.456000	0.83038	0.561000	0.74099	GCG		0.507	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		A	80677934	G	A	80677934	3	1	215	1	0	0	0	0	1	0	0	0	7080	1087	38	1	514	1	HEY1	8	80677934	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10		80677934	65686088	28	13003											
TRHR	7201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110131432	110131432	+	Silent	SNP	C	C	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr8:110131432C>T	ENST00000518632.1	+	3	1296	c.945C>T	c.(943-945)atC>atT	p.I315I	TRHR_ENST00000311762.2_Silent_p.I315I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	315					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.I315I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ACAGTGCCATCAACCCGGTGA	0.433																																																1	Substitution - coding silent(1)	kidney(1)											224	220	221					8																	110131432		2203	4300	6503	SO:0001819	synonymous_variant	7201				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.945C>T	8.37:g.110131432C>T			Q2M339	Silent	SNP	ENST00000518632.1	37	CCDS6311.1																																																																																				0.433	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			T	110131432	C	T	110131432	2	4	215	1	0	0	0	0	0	0	0	1	16485	816	29	2		2	TRHR	8	110131432	Silent	SNP	C	TCGA-B0-5697-01A-11D-1534-10	29453498	110131432	36232590	29	13004											
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110487349	110487349	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr8:110487349A>T	ENST00000378402.5	+	51	8712	c.8608A>T	c.(8608-8610)Aca>Tca	p.T2870S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2870					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T2872S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCTATAGGCACAAGCATTAT	0.348										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	kidney(1)											102	95	97					8																	110487349		1873	4102	5975	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8608A>T	8.37:g.110487349A>T	ENSP00000367655:p.Thr2870Ser		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.342249	0.41498	.	.	ENSG00000205038	ENST00000378402	D	0.86562	-2.14	5.79	5.79	0.91817	.	0.411616	0.22592	N	0.058063	T	0.79992	0.4542	L	0.33485	1.01	0.24308	N	0.99509	B	0.25955	0.138	B	0.24006	0.05	T	0.65598	-0.6129	10	0.19590	T	0.45	.	12.5117	0.56009	1.0:0.0:0.0:0.0	.	2870	Q86WI1	PKHL1_HUMAN	S	2870	ENSP00000367655:T2870S	ENSP00000367655:T2870S	T	+	1	0	PKHD1L1	110556525	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	3.018000	0.49625	2.194000	0.70268	0.533000	0.62120	ACA		0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110487349	A	T	110487349	3	4	215	1	0	0	0	0	1	0	0	0	11974	159	6	5	8810	5	PKHD1L1	8	110487349	Missense_Mutation	SNP	A	TCGA-B0-5697-01A-11D-1534-10	355917	110487349	35876673	30	13005											
ENPP2	5168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	120633703	120633703	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr8:120633703C>A	ENST00000075322.6	-	4	407	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S	ENPP2_ENST00000522826.1_Missense_Mutation_p.A117S|ENPP2_ENST00000427067.2_Missense_Mutation_p.A113S|ENPP2_ENST00000259486.6_Missense_Mutation_p.A117S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	117	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A117S(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAGTGACAGGCATTTTCTTCA	0.468																																					Melanoma(20;305 879 2501 4818 31020)											2	Substitution - Missense(2)	kidney(2)											124	117	119					8																	120633703		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.349G>T	8.37:g.120633703C>A	ENSP00000075322:p.Ala117Ser		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163629	0.78226	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.92	5.92	0.95590	Somatomedin B domain (3);	0.046789	0.85682	D	0.000000	T	0.55986	0.1955	L	0.51422	1.61	0.80722	D	1	P;P;P	0.51653	0.947;0.597;0.935	P;P;P	0.57502	0.822;0.821;0.727	T	0.37641	-0.9697	10	0.27082	T	0.32	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	117;117;117	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	S	117;113;117;117;99	ENSP00000259486:A117S;ENSP00000403315:A113S;ENSP00000428291:A117S;ENSP00000075322:A117S;ENSP00000428304:A99S	ENSP00000075322:A117S	A	-	1	0	ENPP2	120702884	1.000000	0.71417	0.971000	0.41717	0.951000	0.60555	6.089000	0.71384	2.822000	0.97130	0.650000	0.86243	GCC		0.468	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			A	120633703	C	A	120633703	3	1	215	1	0	0	0	0	1	0	0	0	5132	710	25	4	2569	4	ENPP2	8	120633703	Missense_Mutation	SNP	C	TCGA-B0-5697-01A-11D-1534-10	10146354	120633703	25730319	31	13006											
JRK	8629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	143746492	143746492	+	RNA	SNP	T	T	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr8:143746492T>A	ENST00000507178.2	-	0	1318							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ctccatgggctgcaccaatga	0.607																																																0													14	18	17					8																	143746492		1749	3548	5297			8629			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746492T>A			O75565	Missense_Mutation	SNP	ENST00000507178.2	37																																																																																					0.607	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		A	143746492	T	A	143746492	1	1	215	0	1	0	0	0	0	0	0	0	7966	1580	55	5		5	JRK	8	143746492	RNA	SNP	T	TCGA-B0-5697-01A-11D-1534-10	23112789	143746492	2617530	32	13007											
KLF9	687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	73027803	73027803	+	Silent	SNP	A	A	G			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr9:73027803A>G	ENST00000377126.2	-	1	1737	c.477T>C	c.(475-477)caT>caC	p.H159H		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	159					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H159H(1)		endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						GGGCTTTGAGATGGGAGGATT	0.577																																																1	Substitution - coding silent(1)	kidney(1)											110	111	111					9																	73027803		2203	4300	6503	SO:0001819	synonymous_variant	687			BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	1123	protein-coding gene	gene with protein product		602902	"basic transcription element binding protein 1"	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.477T>C	9.37:g.73027803A>G			B2R943|Q16196	Silent	SNP	ENST00000377126.2	37	CCDS6633.1																																																																																				0.577	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		G	73027803	A	G	73027803	2	3	215	1	0	0	0	0	0	0	0	1	8355	330	12	3		3	KLF9	9	73027803	Silent	SNP	A	TCGA-B0-5697-01A-11D-1534-10		73027803	68185628	33	13008											
S1PR3	1903	broad.mit.edu;ucsc.edu	37	9	91616249	91616249	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr9:91616249T>C	ENST00000375846.3	+	1	4829	c.134T>C	c.(133-135)cTc>cCc	p.L45P	S1PR3_ENST00000358157.2_Missense_Mutation_p.L45P			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	45					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.L45P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ACCACCGTGCTCTTCTTGGTC	0.532											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											120	118	119					9																	91616249		2203	4300	6503	SO:0001583	missense	1903			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3167	protein-coding gene	gene with protein product	"sphingosine-1-phosphate receptor 3"	601965	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.134T>C	9.37:g.91616249T>C	ENSP00000365006:p.Leu45Pro	1283	Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.412545	0.42817	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.17691	2.26;2.26	5.14	5.14	0.70334	.	0.553579	0.18054	N	0.153174	T	0.14700	0.0355	L	0.55990	1.75	0.24350	N	0.994928	P	0.38642	0.641	B	0.31614	0.133	T	0.26052	-1.0114	10	0.56958	D	0.05	.	7.6075	0.28110	0.0:0.123:0.0:0.877	.	45	Q99500	S1PR3_HUMAN	P	45	ENSP00000350878:L45P;ENSP00000365006:L45P	ENSP00000350878:L45P	L	+	2	0	S1PR3	90806069	0.027000	0.19231	0.309000	0.25155	0.975000	0.68041	1.932000	0.40143	2.155000	0.67459	0.459000	0.35465	CTC		0.532	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		C	91616249	T	C	91616249	3	2	215	1	0	0	0	0	1	0	0	0	13801	1551	54	3	136	3	S1PR3	9	91616249	Missense_Mutation	SNP	T	TCGA-B0-5697-01A-11D-1534-10	18588446	91616249	49597182	34	13009											
C9orf125	84302	broad.mit.edu	37	9	104239059	104239059	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr9:104239059T>C	ENST00000374851.1	-	4	1463	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.I106V|TMEM246_ENST00000374848.3_Missense_Mutation_p.I106V|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	106						integral component of membrane (GO:0016021)		p.I106V(1)									ACAGTGATGATGGTGATCACC	0.622																																																1	Substitution - Missense(1)	kidney(1)											49	45	46					9																	104239059		2203	4300	6503	SO:0001583	missense	0			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.316A>G	9.37:g.104239059T>C	ENSP00000363984:p.Ile106Val		Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	t	5.172	0.217234	0.09810	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.63	4.48	0.54585	.	0.480634	0.22900	N	0.054274	T	0.29061	0.0722	N	0.05306	-0.075	0.40996	D	0.984894	B	0.22541	0.071	B	0.18561	0.022	T	0.13926	-1.0491	9	0.22706	T	0.39	-27.6801	11.0577	0.47929	0.0:0.074:0.0:0.926	.	106	Q9BRR3	CI125_HUMAN	V	106	.	ENSP00000363980:I106V	I	-	1	0	C9orf125	103278880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.785000	0.55424	2.130000	0.65690	0.524000	0.50904	ATC		0.622	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		C	104239059	T	C	104239059	3	2	215	1	0	0	0	0	1	0	0	0	2456	1464	51	3	899	3	C9orf125	9	104239059	Missense_Mutation	SNP	T	TCGA-B0-5697-01A-11D-1534-10	12622810	104239059	36974372	35	13010											
DFNB31	25861	broad.mit.edu	37	9	117165567	117165567	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr9:117165567G>T	ENST00000362057.3	-	11	2639	c.2471C>A	c.(2470-2472)gCc>gAc	p.A824D	DFNB31_ENST00000374059.3_Missense_Mutation_p.A473D|DFNB31_ENST00000265134.6_Missense_Mutation_p.A441D	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	824	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.A824D(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCCAGGGTGGCCGCACTTTT	0.617																																																1	Substitution - Missense(1)	kidney(1)											54	58	57					9																	117165567		2203	4300	6503	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2471C>A	9.37:g.117165567G>T	ENSP00000354623:p.Ala824Asp		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452898	0.63290	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.27104	1.69;1.69;1.69	4.96	4.96	0.65561	PDZ/DHR/GLGF (4);	0.225081	0.37623	N	0.002018	T	0.29126	0.0724	N	0.12887	0.27	0.33013	D	0.527853	P;P;P	0.50443	0.918;0.863;0.935	P;B;P	0.54965	0.524;0.438;0.765	T	0.42050	-0.9474	10	0.62326	D	0.03	-31.7792	18.2113	0.89871	0.0:0.0:1.0:0.0	.	823;824;473	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	D	441;473;824	ENSP00000265134:A441D;ENSP00000363172:A473D;ENSP00000354623:A824D	ENSP00000265134:A441D	A	-	2	0	DFNB31	116205388	1.000000	0.71417	0.998000	0.56505	0.742000	0.42306	4.122000	0.57910	2.287000	0.76781	0.655000	0.94253	GCC		0.617	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		T	117165567	G	T	117165567	3	4	215	1	0	0	0	0	1	0	0	0	4457	1203	42	4	260	4	DFNB31	9	117165567	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10	12926508	117165567	24047864	36	13011											
SYT15	83849	broad.mit.edu;hgsc.bcm.edu	37	10	46962003	46962003	+	Silent	SNP	G	G	C	rs370972253		TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr10:46962003G>C	ENST00000374321.4	-	8	1299	c.1233C>G	c.(1231-1233)cgC>cgG	p.R411R	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374323.4_Silent_p.R464R|SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000374325.3_Intron	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	411						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R411R(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCGCATGCCAGCGCTTCACCA	0.662																																					Ovarian(57;1152 1428 19651 37745)											1	Substitution - coding silent(1)	kidney(1)						G	,	0,4186		0,0,2093	47	58	55		1233,	0.3	1	10		55	6,8432		0,6,4213	no	coding-synonymous,intron	SYT15	NM_031912.4,NM_181519.2	,	0,6,6306	CC,CG,GG		0.0711,0.0,0.0475	,	411/422,	46962003	6,12618	2093	4219	6312	SO:0001819	synonymous_variant	83849			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1233C>G	10.37:g.46962003G>C			A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	CCDS44376.1																																																																																				0.662	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		C	46962003	G	C	46962003	2	2	215	1	0	0	0	0	0	0	0	1	15476	958	34	4		4	SYT15	10	46962003	Silent	SNP	G	TCGA-B0-5697-01A-11D-1534-10		46962003	88572744	37	13012											
NCOA4	8031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	51582263	51582263	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr10:51582263G>A	ENST00000443446.1	+	6	790	c.561G>A	c.(559-561)atG>atA	p.M187I	NCOA4_ENST00000344348.6_Missense_Mutation_p.M187I|NCOA4_ENST00000374087.4_Missense_Mutation_p.M187I|NCOA4_ENST00000452682.1_Missense_Mutation_p.M203I|NCOA4_ENST00000430396.2_Missense_Mutation_p.M87I|NCOA4_ENST00000374082.1_Missense_Mutation_p.M187I|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000438493.1_Missense_Mutation_p.M203I|NCOA4_ENST00000414907.2_Missense_Mutation_p.M21I	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	187					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.M203I(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GTATCTCCATGCCAGAGCAGG	0.358			T	RET	papillary thyroid																																		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	1	Substitution - Missense(1)	kidney(1)											106	104	104					10																	51582263		2203	4300	6503	SO:0001583	missense	8031			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.561G>A	10.37:g.51582263G>A	ENSP00000390713:p.Met187Ile		A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.282|0.282	-0.985516|-0.985516	0.02180|0.02180	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000431200|ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000330923;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	.|T;T;T;T;T;T;T;T	.|0.21191	.|2.62;2.61;2.35;2.62;2.02;2.62;2.34;2.62	5.35|5.35	1.47|1.47	0.22746|0.22746	.|.	.|1.240080	.|0.05111	.|N	.|0.488930	T|T	0.17066|0.17066	0.0410|0.0410	L|L	0.36672|0.36672	1.1|1.1	0.21416|0.21416	N|N	0.999695|0.999695	.|B;B;B;B	.|0.17667	.|0.023;0.002;0.01;0.0	.|B;B;B;B	.|0.11329	.|0.006;0.004;0.004;0.0	T|T	0.32561|0.32561	-0.9902|-0.9902	5|10	.|0.20046	.|T	.|0.44	-14.6911|-14.6911	7.1894|7.1894	0.25816|0.25816	0.3534:0.0:0.6466:0.0|0.3534:0.0:0.6466:0.0	.|.	.|87;203;203;187	.|B4DF87;B4E260;E9PAV7;Q13772	.|.;.;.;NCOA4_HUMAN	T|I	103|203;203;87;187;187;21;187;187;187	.|ENSP00000405146:M203I;ENSP00000395465:M203I;ENSP00000393053:M87I;ENSP00000363200:M187I;ENSP00000411018:M21I;ENSP00000344552:M187I;ENSP00000363195:M187I;ENSP00000390713:M187I	.|ENSP00000332421:M187I	A|M	+|+	1|3	0|0	NCOA4|NCOA4	51252269|51252269	0.885000|0.885000	0.30320|0.30320	0.609000|0.609000	0.28983|0.28983	0.032000|0.032000	0.12392|0.12392	0.866000|0.866000	0.27954|0.27954	0.187000|0.187000	0.20147|0.20147	-0.136000|-0.136000	0.14681|0.14681	GCC|ATG		0.358	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		A	51582263	G	A	51582263	3	1	215	1	0	0	0	0	1	0	0	0	10233	1319	46	2	631	2	NCOA4	10	51582263	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10	4620260	51582263	83952484	38	13013											
LRRTM3	347731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	68687373	68687373	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr10:68687373C>A	ENST00000361320.4	+	2	1277	c.699C>A	c.(697-699)aaC>aaA	p.N233K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	233					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.N233K(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCCTTCAGAACCTTTACTTGC	0.453																																																2	Substitution - Missense(2)	kidney(2)											85	87	86					10																	68687373		2203	4300	6503	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.699C>A	10.37:g.68687373C>A	ENSP00000355187:p.Asn233Lys		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	5.384	0.256115	0.10185	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.55760	0.5	5.66	0.396	0.16309	.	0.000000	0.64402	D	0.000001	T	0.27900	0.0687	N	0.12443	0.215	0.36438	D	0.865321	B;B	0.12013	0.005;0.004	B;B	0.12156	0.007;0.003	T	0.16778	-1.0391	10	0.12766	T	0.61	.	9.6794	0.40061	0.0:0.623:0.0:0.377	.	233;233	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	233	ENSP00000355187:N233K	ENSP00000355187:N233K	N	+	3	2	LRRTM3	68357379	0.868000	0.29978	0.970000	0.41538	0.991000	0.79684	0.098000	0.15189	-0.192000	0.10432	-0.355000	0.07637	AAC		0.453	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		A	68687373	C	A	68687373	3	1	215	1	0	0	0	0	1	0	0	0	9043	506	18	4	705	4	LRRTM3	10	68687373	Missense_Mutation	SNP	C	TCGA-B0-5697-01A-11D-1534-10	17105110	68687373	66847374	39	13014											
ZMIZ1	57178	hgsc.bcm.edu	37	10	81070821	81070822	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr10:81070821_81070822insC	ENST00000334512.5	+	24	3548_3549	c.2976_2977insC	c.(2977-2979)ccgfs	p.P993fs	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	993	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTCCCCGGCAGCCGCCACAGGC	0.639																																																0																																										SO:0001589	frameshift_variant	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2978dupC	10.37:g.81070823_81070823dupC	ENSP00000334474:p.Pro993fs		Q5JSH9|Q7Z7E6	Frame_Shift_Ins	INS	ENST00000334512.5	37	CCDS7357.1																																																																																				0.639	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		C	81070822	-	C	81070821	7	5	215	1	0	1	1	0	0	0	0	0	17701	962	34	0	3054	0	ZMIZ1	10	81070821	Frame_Shift_Ins	INS	-	TCGA-B0-5697-01A-11D-1534-10	12383448	81070821	54463926	40	13015											
HELLS	3070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96352150	96352150	+	Splice_Site	SNP	A	A	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr10:96352150A>T	ENST00000348459.5	+	17	1956		c.e17-1		RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_Splice_Site|HELLS_ENST00000371332.4_Splice_Site|HELLS_ENST00000394045.1_Splice_Site|HELLS_ENST00000394036.1_Splice_Site	NM_018063.3	NP_060533.2			helicase, lymphoid-specific									p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTTTAATTTCAGGTGCTGCTT	0.328																																																1	Unknown(1)	kidney(1)											57	58	57					10																	96352150		2203	4300	6503	SO:0001630	splice_region_variant	3070			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1852-1A>T	10.37:g.96352150A>T				Splice_Site	SNP	ENST00000348459.5	37	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845493	0.71603	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6893	0.69072	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HELLS	96342140	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.791000	0.91849	2.062000	0.61559	0.460000	0.39030	.		0.328	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063	Intron	T	96352150	A	T	96352150	5	4	215	1	0	0	0	0	0	0	1	0	7048	202	7	5	1916	5	HELLS	10	96352150	Splice_Site	SNP	A	TCGA-B0-5697-01A-11D-1534-10	15281329	96352150	39182597	41	13016											
ZMYM5	9205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	20426164	20426164	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr13:20426164C>A	ENST00000337963.4	-	3	421	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	ZMYM5_ENST00000382905.4_Missense_Mutation_p.D53Y|ZMYM5_ENST00000382907.4_Missense_Mutation_p.D53Y	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	53	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D53Y(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		tcatcatcatcTTCCACTGGT	0.403																																																2	Substitution - Missense(2)	kidney(2)											115	109	111					13																	20426164		2203	4300	6503	SO:0001583	missense	9205			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.157G>T	13.37:g.20426164C>A	ENSP00000337034:p.Asp53Tyr		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		.	.	.	.	.	.	.	.	.	.	C	14.34	2.505134	0.44558	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.25	3.4	0.38934	.	.	.	.	.	T	0.51669	0.1688	M	0.69823	2.125	0.28218	N	0.926667	D;D;D	0.76494	0.992;0.999;0.997	P;D;D	0.66351	0.751;0.943;0.912	T	0.46219	-0.9207	9	0.72032	D	0.01	.	12.2366	0.54518	0.0:0.9166:0.0:0.0834	.	53;53;53	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	Y	53;43;53;53	ENSP00000337034:D53Y;ENSP00000445779:D43Y;ENSP00000372364:D53Y;ENSP00000372361:D53Y	ENSP00000337034:D53Y	D	-	1	0	ZMYM5	19324164	1.000000	0.71417	0.377000	0.26055	0.722000	0.41435	3.591000	0.53986	1.154000	0.42482	0.561000	0.74099	GAT		0.403	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		A	20426164	C	A	20426164	3	1	215	1	0	0	0	0	1	0	0	0	17708	913	32	4	1987	4	ZMYM5	13	20426164	Missense_Mutation	SNP	C	TCGA-B0-5697-01A-11D-1534-10		20426164	94743714	42	13017											
FREM2	341640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	39264065	39264065	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr13:39264065G>A	ENST00000280481.7	+	1	2800	c.2584G>A	c.(2584-2586)Gcc>Acc	p.A862T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	862					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A862T(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACTGATGTTGCCCATATCTC	0.512																																																1	Substitution - Missense(1)	kidney(1)											110	98	102					13																	39264065		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2584G>A	13.37:g.39264065G>A	ENSP00000280481:p.Ala862Thr		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	5.276	0.236273	0.10023	.	.	ENSG00000150893	ENST00000280481	T	0.26660	1.72	5.8	1.47	0.22746	.	0.523322	0.21830	N	0.068494	T	0.12518	0.0304	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28902	-1.0029	10	0.20519	T	0.43	.	8.6943	0.34287	0.1332:0.0:0.6487:0.2181	.	862	Q5SZK8	FREM2_HUMAN	T	862	ENSP00000280481:A862T	ENSP00000280481:A862T	A	+	1	0	FREM2	38162065	0.000000	0.05858	0.234000	0.24042	0.125000	0.20455	-0.037000	0.12164	0.336000	0.23639	-0.152000	0.13540	GCC		0.512	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		A	39264065	G	A	39264065	3	1	215	1	0	0	0	0	1	0	0	0	6047	1319	46	2	2586	2	FREM2	13	39264065	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10	18837901	39264065	75905813	43	13018											
C14orf135	64430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	60587988	60587988	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr14:60587988G>T	ENST00000406854.1	+	8	2571	c.2017G>T	c.(2017-2019)Ggc>Tgc	p.G673C	PCNXL4_ENST00000404681.2_Missense_Mutation_p.G673C|PCNXL4_ENST00000317623.4_Missense_Mutation_p.G439C|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000406949.1_Missense_Mutation_p.G439C			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	673						integral component of membrane (GO:0016021)		p.G439C(1)|p.G673C(1)									TCTGGAATGTGGCTATACTTA	0.328																																																2	Substitution - Missense(2)	kidney(2)											155	144	148					14																	60587988		2203	4300	6503	SO:0001583	missense	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2017G>T	14.37:g.60587988G>T	ENSP00000384801:p.Gly673Cys		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.706988|4.706988	0.89018|0.89018	.|.	.|.	ENSG00000126773|ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681|ENST00000554534	T;T;T;T|.	0.47528|.	0.84;0.86;1.1;0.86|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81978|0.81978	0.4937|0.4937	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.81529|0.81529	-0.0891|-0.0891	10|5	0.87932|.	D|.	0|.	.|.	19.9375|19.9375	0.97146|0.97146	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	673;439|.	Q63HM2;B5MC47|.	CN135_HUMAN;.|.	C|L	439;673;439;673|91	ENSP00000317396:G439C;ENSP00000384801:G673C;ENSP00000385201:G439C;ENSP00000385713:G673C|.	ENSP00000317396:G439C|.	G|W	+|+	1|2	0|0	C14orf135|C14orf135	59657741|59657741	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.842000|0.842000	0.47809|0.47809	9.011000|9.011000	0.93618|0.93618	2.717000|2.717000	0.92951|0.92951	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.328	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		T	60587988	G	T	60587988	3	4	215	1	0	0	0	0	1	0	0	0	1747	1348	47	4	1337	4	C14orf135	14	60587988	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10		60587988	46761552	44	13019											
KCNH5	27133	broad.mit.edu;ucsc.edu	37	14	63473094	63473094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr14:63473094G>T	ENST00000322893.7	-	3	562	c.294C>A	c.(292-294)taC>taA	p.Y98*	KCNH5_ENST00000394964.2_Nonsense_Mutation_p.Y40*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.Y40*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.Y98*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	98	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.Y40*(1)|p.Y98*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGTTTTTCTTGTACAGAAGAA	0.348																																																2	Substitution - Nonsense(2)	kidney(2)											90	88	88					14																	63473094		2202	4299	6501	SO:0001587	stop_gained	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.294C>A	14.37:g.63473094G>T	ENSP00000321427:p.Tyr98*		C9JP98	Nonsense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	37	6.487432	0.97607	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	.	.	.	5.35	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2677	0.54686	0.1407:0.0:0.8593:0.0	.	.	.	.	X	98;98;40;40	.	ENSP00000321427:Y98X	Y	-	3	2	KCNH5	62542847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.265000	0.33027	0.707000	0.31934	0.655000	0.94253	TAC		0.348	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63473094	G	T	63473094	4	4	215	1	0	0	0	0	0	1	0	0	8037	1372	48	4	2742	4	KCNH5	14	63473094	Nonsense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10	2885106	63473094	43876446	45	13020											
RBM25	58517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	73550237	73550237	+	Silent	SNP	A	A	G			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr14:73550237A>G	ENST00000261973.7	+	5	645	c.360A>G	c.(358-360)caA>caG	p.Q120Q	RBM25_ENST00000526754.1_Silent_p.Q120Q|RBM25_ENST00000527432.1_Silent_p.Q120Q|RBM25_ENST00000540173.1_Silent_p.Q120Q|RBM25_ENST00000525321.1_Silent_p.Q120Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	120	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q120Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AGAGAGTACAAGGTGCTTCCG	0.318																																																1	Substitution - coding silent(1)	kidney(1)											140	139	139					14																	73550237		2203	4300	6503	SO:0001819	synonymous_variant	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.360A>G	14.37:g.73550237A>G			A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	CCDS32113.1																																																																																				0.318	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		G	73550237	A	G	73550237	2	3	215	1	0	0	0	0	0	0	0	1	13131	69	3	3		3	RBM25	14	73550237	Silent	SNP	A	TCGA-B0-5697-01A-11D-1534-10	10077143	73550237	33799303	46	13021											
ABCD4	5826	broad.mit.edu;ucsc.edu	37	14	74763081	74763081	+	Missense_Mutation	SNP	A	A	G	rs145669133	byFrequency	TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr14:74763081A>G	ENST00000356924.4	-	5	640	c.497T>C	c.(496-498)aTc>aCc	p.I166T	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.I79T|ABCD4_ENST00000557588.1_Missense_Mutation_p.I166T|ABCD4_ENST00000557554.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	166	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.I166T(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GAACGGGGAGATGATGAGCTT	0.602																																																1	Substitution - Missense(1)	kidney(1)						A	THR/ILE	3,4403	6.2+/-15.9	0,3,2200	118	97	104		497	4.8	1	14	dbSNP_134	104	0,8600		0,0,4300	yes	missense	ABCD4	NM_005050.3	89	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	benign	166/607	74763081	3,13003	2203	4300	6503	SO:0001583	missense	5826			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.497T>C	14.37:g.74763081A>G	ENSP00000349396:p.Ile166Thr		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	CCDS9828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.53|11.53	1.664967|1.664967	0.29604|0.29604	6.81E-4|6.81E-4	0.0|0.0	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816;ENST00000557588|ENST00000556971	D;D;D|.	0.99557|.	-6.16;-6.16;-6.16|.	4.82|4.82	4.82|4.82	0.62117|0.62117	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);|.	0.212459|.	0.47852|.	D|.	0.000202|.	T|T	0.51415|0.51415	0.1673|0.1673	L|L	0.35593|0.35593	1.075|1.075	0.42832|0.42832	D|D	0.994028|0.994028	B;B;B|.	0.19445|.	0.036;0.014;0.006|.	B;B;B|.	0.30943|.	0.076;0.122;0.091|.	T|T	0.48875|0.48875	-0.8996|-0.8996	10|5	0.33940|.	T|.	0.23|.	.|.	9.1288|9.1288	0.36833|0.36833	0.9185:0.0:0.0815:0.0|0.9185:0.0:0.0815:0.0	.|.	79;166;166|.	F8W7M4;A8K5L7;O14678|.	.;.;ABCD4_HUMAN|.	T|P	166;79;166|126	ENSP00000349396:I166T;ENSP00000298816:I79T;ENSP00000451993:I166T|.	ENSP00000298816:I79T|.	I|S	-|-	2|1	0|0	ABCD4|ABCD4	73832834|73832834	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.563000|0.563000	0.35712|0.35712	7.383000|7.383000	0.79741|0.79741	2.012000|2.012000	0.59069|0.59069	0.528000|0.528000	0.53228|0.53228	ATC|TCT		0.602	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		G	74763081	A	G	74763081	3	3	215	1	0	0	0	0	1	0	0	0	63	333	12	3	1383	3	ABCD4	14	74763081	Missense_Mutation	SNP	A	TCGA-B0-5697-01A-11D-1534-10	1212844	74763081	32586459	47	13022											
VPS39	23339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42454241	42454241	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr15:42454241C>T	ENST00000348544.4	-	24	2481	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	VPS39_ENST00000318006.5_Missense_Mutation_p.E817K			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	828					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.E817K(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CTCAGGAATTCTGCATGGAGA	0.448																																																1	Substitution - Missense(1)	kidney(1)											171	153	159					15																	42454241		2203	4299	6502	SO:0001583	missense	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2482G>A	15.37:g.42454241C>T	ENSP00000335193:p.Glu828Lys		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426408	0.83667	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.53640	0.61;0.62	5.21	5.21	0.72293	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 2 (1);	0.104173	0.64402	D	0.000003	T	0.60612	0.2282	M	0.82517	2.595	0.80722	D	1	P;P	0.38129	0.619;0.565	B;B	0.44133	0.442;0.386	T	0.60367	-0.7277	10	0.28530	T	0.3	-11.592	19.1161	0.93340	0.0:1.0:0.0:0.0	.	828;817	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	K	817;828	ENSP00000326534:E817K;ENSP00000335193:E828K	ENSP00000326534:E817K	E	-	1	0	VPS39	40241533	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.396000	0.79891	2.599000	0.87857	0.561000	0.74099	GAA		0.448	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		T	42454241	C	T	42454241	3	4	215	1	0	0	0	0	1	0	0	0	17214	922	32	2	190	2	VPS39	15	42454241	Missense_Mutation	SNP	C	TCGA-B0-5697-01A-11D-1534-10		42454241	60077151	48	13023											
ISL2	64843	broad.mit.edu	37	15	76634124	76634124	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr15:76634124C>T	ENST00000290759.4	+	6	1188	c.1028C>T	c.(1027-1029)tCg>tTg	p.S343L	RP11-685G9.2_ENST00000559539.1_RNA|RP11-685G9.4_ENST00000602530.1_lincRNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	343					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S343L(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						TCCCTGTCCTCGCAGCTCCCG	0.682																																					GBM(97;953 1391 16164 31496 36951)											1	Substitution - Missense(1)	kidney(1)											62	63	63					15																	76634124		2197	4294	6491	SO:0001583	missense	64843			AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.1028C>T	15.37:g.76634124C>T	ENSP00000290759:p.Ser343Leu		B3KM37	Missense_Mutation	SNP	ENST00000290759.4	37	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234479	0.95207	.	.	ENSG00000159556	ENST00000290759	D	0.85171	-1.95	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	P	0.56788	0.806	D	0.88794	0.3280	10	0.49607	T	0.09	.	12.5772	0.56369	0.0:0.9164:0.0:0.0836	.	343	Q96A47	ISL2_HUMAN	L	343	ENSP00000290759:S343L	ENSP00000290759:S343L	S	+	2	0	ISL2	74421179	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.939000	0.70179	2.255000	0.74692	0.462000	0.41574	TCG		0.682	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			T	76634124	C	T	76634124	3	4	215	1	0	0	0	0	1	0	0	0	7859	893	31	1	1050	1	ISL2	15	76634124	Missense_Mutation	SNP	C	TCGA-B0-5697-01A-11D-1534-10	34179883	76634124	25897268	49	13024											
LRRK1	79705	broad.mit.edu;hgsc.bcm.edu	37	15	101606007	101606007	+	Missense_Mutation	SNP	G	G	A	rs536296948		TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr15:101606007G>A	ENST00000388948.3	+	32	5724	c.5365G>A	c.(5365-5367)Gtg>Atg	p.V1789M	LRRK1_ENST00000284395.5_Missense_Mutation_p.V1786M|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.V1789M(1)|p.V1801M(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATGTTTCCCGTGCGGCCCTT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16930	0.0		0.0	False		,,,				2504	0.001															2	Substitution - Missense(2)	kidney(2)											45	53	51					15																	101606007		2027	4177	6204	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5365G>A	15.37:g.101606007G>A	ENSP00000373600:p.Val1789Met			Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402235	0.42613	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.77750	-1.1;-1.12	5.7	4.78	0.61160	.	0.204720	0.42420	D	0.000710	T	0.78578	0.4305	L	0.59436	1.845	0.31715	N	0.639083	D	0.63880	0.993	P	0.53224	0.721	T	0.81250	-0.1018	10	0.62326	D	0.03	.	7.2068	0.25911	0.1327:0.1615:0.7058:0.0	.	1789	Q38SD2	LRRK1_HUMAN	M	1789;1786;480;343	ENSP00000373600:V1789M;ENSP00000284395:V1786M	ENSP00000284395:V1786M	V	+	1	0	LRRK1	99423530	0.954000	0.32549	0.082000	0.20525	0.104000	0.19210	1.634000	0.37123	2.675000	0.91044	0.655000	0.94253	GTG		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101606007	G	A	101606007	3	1	215	1	0	0	0	0	1	0	0	0	9034	1145	40	1	5487	1	LRRK1	15	101606007	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10	24971883	101606007	925385	50	13025											
PIGQ	9091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	629095	629095	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr16:629095T>C	ENST00000026218.5	+	7	1338	c.1250T>C	c.(1249-1251)cTg>cCg	p.L417P	PIGQ_ENST00000321878.5_Missense_Mutation_p.L417P|PIGQ_ENST00000409527.2_Missense_Mutation_p.L417P	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	417	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.L417P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				ATCCATGGCCTGTCCTCACTG	0.687																																																1	Substitution - Missense(1)	kidney(1)											89	83	85					16																	629095		2200	4300	6500	SO:0001583	missense	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1250T>C	16.37:g.629095T>C	ENSP00000026218:p.Leu417Pro		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.783849	0.70222	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218;ENST00000540241	T;T;T	0.56103	0.48;0.48;1.77	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.80103	-0.1522	10	0.87932	D	0	-21.6385	15.3314	0.74215	0.0:0.0:0.0:1.0	.	431;417;417	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	P	417;417;417;2	ENSP00000386760:L417P;ENSP00000326674:L417P;ENSP00000026218:L417P	ENSP00000026218:L417P	L	+	2	0	PIGQ	569096	1.000000	0.71417	0.582000	0.28627	0.083000	0.17756	7.990000	0.88215	2.224000	0.72417	0.533000	0.62120	CTG		0.687	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		C	629095	T	C	629095	3	2	215	1	0	0	0	0	1	0	0	0	11898	1580	55	3	1272	3	PIGQ	16	629095	Missense_Mutation	SNP	T	TCGA-B0-5697-01A-11D-1534-10		629095	89725658	51	13026											
NKD1	85407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	50667285	50667285	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr16:50667285C>T	ENST00000268459.3	+	10	1230	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	336					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R336W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GCAACGGCTCCGGGGCACCCA	0.642																																																1	Substitution - Missense(1)	kidney(1)											75	87	83					16																	50667285		2198	4300	6498	SO:0001583	missense	85407			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1006C>T	16.37:g.50667285C>T	ENSP00000268459:p.Arg336Trp		B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826653	0.71143	.	.	ENSG00000140807	ENST00000268459	T	0.70399	-0.48	4.44	4.44	0.53790	.	0.069272	0.64402	D	0.000017	T	0.69296	0.3095	M	0.74881	2.28	0.50467	D	0.999874	P	0.36125	0.538	B	0.31290	0.127	T	0.76274	-0.3019	10	0.87932	D	0	-23.2055	15.4353	0.75140	0.0:1.0:0.0:0.0	.	336	Q969G9	NKD1_HUMAN	W	336	ENSP00000268459:R336W	ENSP00000268459:R336W	R	+	1	2	NKD1	49224786	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.992000	0.63889	2.297000	0.77311	0.585000	0.79938	CGG		0.642	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			T	50667285	C	T	50667285	3	4	215	1	0	0	0	0	1	0	0	0	10443	643	23	1	1044	1	NKD1	16	50667285	Missense_Mutation	SNP	C	TCGA-B0-5697-01A-11D-1534-10	50038190	50667285	39687468	52	13027											
MT1G	4495	broad.mit.edu;ucsc.edu	37	16	56700810	56700810	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr16:56700810T>C	ENST00000379811.3	-	3	241	c.170A>G	c.(169-171)aAg>aGg	p.K57R	MT1H_ENST00000569155.1_5'Flank|MT1H_ENST00000332374.4_5'Flank|MT1G_ENST00000568675.1_3'UTR|MT1G_ENST00000444837.2_Missense_Mutation_p.K56R|MT1G_ENST00000569500.1_Missense_Mutation_p.K34R			P13640	MT1G_HUMAN	metallothionein 1G	57	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to copper ion (GO:0071280)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cellular response to zinc ion (GO:0071294)|monocyte activation (GO:0042117)|monocyte differentiation (GO:0030224)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.K56R(1)|p.K57R(1)		kidney(2)|large_intestine(1)|lung(2)	5						GCAGCTGCACTTCTCCGATGC	0.547																																																2	Substitution - Missense(2)	kidney(2)											90	92	92					16																	56700810		2198	4300	6498	SO:0001583	missense	4495			BC020757	CCDS10766.1	16q13	2008-02-05			ENSG00000125144	ENSG00000125144		"Metallothioneins"	7399	protein-coding gene	gene with protein product	"metallothionein 1K"	156353		MT1		3403543, 6089206	Standard	NM_001301267		Approved	MT1K	uc002eju.1	P13640	OTTHUMG00000133275	ENST00000379811.3:c.170A>G	16.37:g.56700810T>C	ENSP00000369139:p.Lys57Arg		P80296	Missense_Mutation	SNP	ENST00000379811.3	37		.	.	.	.	.	.	.	.	.	.	T	8.537	0.872332	0.17322	.	.	ENSG00000125144	ENST00000379811;ENST00000444837	T;T	0.11277	2.79;2.79	2.94	1.83	0.25207	.	0.174773	0.36066	U	0.002801	T	0.12561	0.0305	.	.	.	0.80722	D	1	P	0.38110	0.618	B	0.43386	0.418	T	0.03898	-1.0994	9	0.66056	D	0.02	.	7.3183	0.26513	0.0:0.1255:0.0:0.8745	.	56	P13640-2	.	R	57;56	ENSP00000369139:K57R;ENSP00000391397:K56R	ENSP00000369139:K57R	K	-	2	0	MT1G	55258311	1.000000	0.71417	0.989000	0.46669	0.010000	0.07245	3.101000	0.50283	1.338000	0.45544	0.147000	0.16070	AAG		0.547	MT1G-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000257054.1	NM_005950		C	56700810	T	C	56700810	3	2	215	1	0	0	0	0	1	0	0	0	9903	1609	56	3	22	3	MT1G	16	56700810	Missense_Mutation	SNP	T	TCGA-B0-5697-01A-11D-1534-10	6033525	56700810	33653943	53	13028											
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7669721	7669721	+	Silent	SNP	G	G	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr17:7669721G>A	ENST00000572933.1	+	22	5057	c.3597G>A	c.(3595-3597)gaG>gaA	p.E1199E	DNAH2_ENST00000389173.2_Silent_p.E1199E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1199	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1199E(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCGGGAAGAGGAAAATAGTC	0.552																																																1	Substitution - coding silent(1)	kidney(1)											103	87	93					17																	7669721		2203	4300	6503	SO:0001819	synonymous_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3597G>A	17.37:g.7669721G>A			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																				0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7669721	G	A	7669721	2	1	215	1	0	0	0	0	0	0	0	1	4604	991	35	2		2	DNAH2	17	7669721	Silent	SNP	G	TCGA-B0-5697-01A-11D-1534-10		7669721	73525489	54	13029											
TAF15	8148	hgsc.bcm.edu	37	17	34171576	34171605	+	In_Frame_Del	DEL	GGTGGCTATGGTGGAGACAGAAGCAGCGGT	GGTGGCTATGGTGGAGACAGAAGCAGCGGT	-	rs576937289|rs4251785|rs574534265|rs200046706	byFrequency	TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	GGTGGCTATGGTGGAGACAGAAGCAGCGGT	GGTGGCTATGGTGGAGACAGAAGCAGCGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr17:34171576_34171605delGGTGGCTATGGTGGAGACAGAAGCAGCGGT	ENST00000588240.1	+	15	1388_1417	c.1273_1302delGGTGGCTATGGTGGAGACAGAAGCAGCGGT	c.(1273-1302)ggtggctatggtggagacagaagcagcggtdel	p.GGYGGDRSSG425del	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_In_Frame_Del_p.GGYGGDRSSG422del	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		cagaagtgggggtggctatggtggagacagaagcagcggtggtggctaca	0.635			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																		Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	0																																										SO:0001651	inframe_deletion	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1273_1302delGGTGGCTATGGTGGAGACAGAAGCAGCGGT	17.37:g.34171576_34171605delGGTGGCTATGGTGGAGACAGAAGCAGCGGT	ENSP00000466950:p.Gly425_Gly434del		D3DPM5|Q15775|Q5T077	In_Frame_Del	DEL	ENST00000588240.1	37	CCDS32623.1																																																																																				0.635	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		-	34171605	GGTGGCTATGGTGGAGACAGAAGCAGCGGT	-	34171576	7	5	215	1	0	1	0	1	0	0	0	0	15523	1232	43	0	1331	0	TAF15	17	34171576	In_Frame_Del	DEL	GGTGGCTATGGTGGAGACAGAAGCAGCGGT	TCGA-B0-5697-01A-11D-1534-10	26501855	34171576	47023634	55	13030											
RDM1	201299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34249624	34249624	+	Silent	SNP	C	C	T	rs112692396		TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr17:34249624C>T	ENST00000293273.6	-	5	669	c.624G>A	c.(622-624)aaG>aaA	p.K208K	RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000394529.3_Silent_p.K185K|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394528.3_Silent_p.K208K|RDM1_ENST00000430160.2_Silent_p.K185K|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000425909.3_Intron	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	208					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K208K(2)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGACAAAGCCTTCTGAATAG	0.373								Other identified genes with known or suspected DNA repair function																																								2	Substitution - coding silent(2)	kidney(2)											150	147	148					17																	34249624		2203	4300	6503	SO:0001819	synonymous_variant	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"RNA binding motif (RRM) containing"	19950	protein-coding gene	gene with protein product		612896	"RAD52 homolog B (S. cerevisiae)", "RAD52 motif 1"	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.624G>A	17.37:g.34249624C>T			A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Silent	SNP	ENST00000293273.6	37	CCDS11301.1																																																																																				0.373	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		T	34249624	C	T	34249624	2	4	215	1	0	0	0	0	0	0	0	1	13203	680	24	2		2	RDM1	17	34249624	Silent	SNP	C	TCGA-B0-5697-01A-11D-1534-10	78048	34249624	46945586	56	13031											
SERPINB5	5268	broad.mit.edu;hgsc.bcm.edu	37	18	61154179	61154179	+	Splice_Site	SNP	G	G	C			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr18:61154179G>C	ENST00000382771.4	+	3	461	c.169G>C	c.(169-171)Gtt>Ctt	p.V57L	RP11-635N19.3_ENST00000602456.1_RNA|SERPINB5_ENST00000489441.1_Splice_Site_p.V57L	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	57					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V57L(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						CTCTTAACAGGTTCTTCATTT	0.383																																																1	Substitution - Missense(1)	kidney(1)											84	86	85					18																	61154179		2203	4300	6503	SO:0001630	splice_region_variant	5268			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.169-1G>C	18.37:g.61154179G>C			B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068408	0.55539	.	.	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.85861	-2.04;-2.04	5.21	5.21	0.72293	Serpin domain (3);	0.587182	0.16534	N	0.210224	D	0.87034	0.6077	M	0.78916	2.43	0.58432	D	0.999992	B;B	0.31968	0.349;0.233	B;B	0.35859	0.1;0.212	D	0.84944	0.0867	9	.	.	.	.	17.8844	0.88849	0.0:0.0:1.0:0.0	.	57;57	P36952;P36952-2	SPB5_HUMAN;.	L	57	ENSP00000372221:V57L;ENSP00000408821:V57L	.	V	+	1	0	SERPINB5	59305159	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	4.341000	0.59335	2.588000	0.87417	0.650000	0.86243	GTT		0.383	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639	Missense_Mutation	C	61154179	G	C	61154179	5	2	215	1	0	0	0	0	0	0	1	0	14110	1275	44	4	175	4	SERPINB5	18	61154179	Splice_Site	SNP	G	TCGA-B0-5697-01A-11D-1534-10		61154179	16923069	57	13032											
CD209	30835	broad.mit.edu	37	19	7810629	7810629	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr19:7810629G>A	ENST00000315599.7	-	4	545	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	CD209_ENST00000601951.1_Missense_Mutation_p.R151W|CD209_ENST00000204801.8_Missense_Mutation_p.R131W|CD209_ENST00000354397.6_Missense_Mutation_p.R175W|CD209_ENST00000593821.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.R151W|CD209_ENST00000601256.1_Missense_Mutation_p.R151W|CD209_ENST00000301357.8_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R151W|CD209_ENST00000602261.1_Intron|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	175	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R175W(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGAGTCAGCTCC	0.557																																																2	Substitution - Missense(2)	kidney(2)											118	116	117					19																	7810629		2196	4296	6492	SO:0001583	missense	30835			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.523C>T	19.37:g.7810629G>A	ENSP00000315477:p.Arg175Trp		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.763042	0.31228	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000540789	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	0.461	-0.711	0.11230	.	.	.	.	.	T	0.35799	0.0944	L	0.43152	1.355	0.09310	N	1	D;D;B;D;D;D;B;D	0.89917	0.998;1.0;0.032;0.998;0.994;0.99;0.032;0.999	P;D;B;P;P;P;B;P	0.79108	0.718;0.992;0.003;0.742;0.689;0.663;0.003;0.804	T	0.18524	-1.0334	8	0.62326	D	0.03	.	.	.	.	.	175;151;131;151;175;151;151;175	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.;.;.	W	175;175;151;131;159	ENSP00000315477:R175W;ENSP00000346373:R175W;ENSP00000315407:R151W;ENSP00000204801:R131W	ENSP00000204801:R131W	R	-	1	2	CD209	7716629	0.017000	0.18338	0.006000	0.13384	0.152000	0.21847	1.766000	0.38491	-0.326000	0.08564	0.298000	0.19748	CGG		0.557	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		A	7810629	G	A	7810629	3	1	215	1	0	0	0	0	1	0	0	0	2986	1057	37	1	707	1	CD209	19	7810629	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10		7810629	51318354	58	13033											
SIGLEC12	89858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52004612	52004612	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr19:52004612C>T	ENST00000291707.3	-	1	431	c.376G>A	c.(376-378)Gga>Aga	p.G126R	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	126	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G126R(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCATATTTCCTCTCTCTACA	0.473																																																1	Substitution - Missense(1)	kidney(1)											127	118	121					19																	52004612		2203	4300	6503	SO:0001583	missense	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.376G>A	19.37:g.52004612C>T	ENSP00000291707:p.Gly126Arg		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	12.01	1.811032	0.32053	.	.	ENSG00000254521	ENST00000291707	T	0.65364	-0.15	2.09	0.946	0.19549	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76090	0.3939	M	0.85542	2.76	0.09310	N	1	D	0.89917	1.0	D	0.71656	0.974	T	0.62553	-0.6830	9	0.87932	D	0	.	5.4617	0.16619	0.3293:0.6707:0.0:0.0	.	126	Q96PQ1	SIG12_HUMAN	R	126	ENSP00000291707:G126R	ENSP00000291707:G126R	G	-	1	0	SIGLEC12	56696424	0.001000	0.12720	0.002000	0.10522	0.023000	0.10783	0.629000	0.24538	0.052000	0.16007	0.395000	0.25975	GGA		0.473	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		T	52004612	C	T	52004612	3	4	215	1	0	0	0	0	1	0	0	0	14314	690	24	2	1516	2	SIGLEC12	19	52004612	Missense_Mutation	SNP	C	TCGA-B0-5697-01A-11D-1534-10	44193983	52004612	7124371	59	13034											
FOXS1	2307	broad.mit.edu	37	20	30432839	30432839	+	Silent	SNP	C	C	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr20:30432839C>T	ENST00000375978.3	-	1	581	c.507G>A	c.(505-507)ctG>ctA	p.L169L		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	169					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L169L(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGGCCCCCACCAGACCCCCAA	0.647																																																1	Substitution - coding silent(1)	kidney(1)											29	27	28					20																	30432839		2203	4300	6503	SO:0001819	synonymous_variant	2307			AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.507G>A	20.37:g.30432839C>T			Q96D28	Silent	SNP	ENST00000375978.3	37	CCDS13192.1																																																																																				0.647	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		T	30432839	C	T	30432839	2	4	215	1	0	0	0	0	0	0	0	1	6037	581	21	2		2	FOXS1	20	30432839	Silent	SNP	C	TCGA-B0-5697-01A-11D-1534-10		30432839	32592681	60	13035											
PREX1	57580	broad.mit.edu	37	20	47246011	47246011	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr20:47246011A>G	ENST00000371941.3	-	37	4764	c.4742T>C	c.(4741-4743)gTc>gCc	p.V1581A	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1581					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V1581A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCACACATGACCATCTGGCA	0.652																																																1	Substitution - Missense(1)	kidney(1)											67	72	71					20																	47246011		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4742T>C	20.37:g.47246011A>G	ENSP00000361009:p.Val1581Ala		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	A	8.405	0.842756	0.16963	.	.	ENSG00000124126	ENST00000371941	T	0.61859	0.07	4.25	2.26	0.28386	.	0.648109	0.13857	N	0.357990	T	0.44117	0.1278	L	0.39898	1.24	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.16719	-1.0393	10	0.30078	T	0.28	.	7.0475	0.25055	0.3769:0.0:0.6231:0.0	.	1581;878	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	A	1581	ENSP00000361009:V1581A	ENSP00000361009:V1581A	V	-	2	0	PREX1	46679418	0.997000	0.39634	0.959000	0.39883	0.927000	0.56198	2.531000	0.45650	0.254000	0.21573	-0.464000	0.05259	GTC		0.652	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		G	47246011	A	G	47246011	3	3	215	1	0	0	0	0	1	0	0	0	12481	275	10	3	253	3	PREX1	20	47246011	Missense_Mutation	SNP	A	TCGA-B0-5697-01A-11D-1534-10	16813172	47246011	15779509	61	13036											
C21orf45	54069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33642036	33642036	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chr21:33642036T>C	ENST00000290130.3	-	4	657	c.603A>G	c.(601-603)atA>atG	p.I201M	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	201					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.I201M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						GAGACTTTTCTATTTCAACTC	0.338																																																1	Substitution - Missense(1)	kidney(1)											58	59	59					21																	33642036		2202	4296	6498	SO:0001583	missense	0			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.603A>G	21.37:g.33642036T>C	ENSP00000290130:p.Ile201Met		B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.541019	0.27563	.	.	ENSG00000159055	ENST00000290130	.	.	.	5.34	0.291	0.15732	.	0.061352	0.64402	D	0.000003	T	0.36853	0.0982	M	0.64997	1.995	0.31677	N	0.64362	B	0.27932	0.194	B	0.24848	0.056	T	0.27468	-1.0073	9	0.37606	T	0.19	-10.2684	4.8845	0.13696	0.0:0.2722:0.1562:0.5716	.	201	Q9NYP9	MS18A_HUMAN	M	201	.	ENSP00000290130:I201M	I	-	3	3	MIS18A	32563907	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	-0.049000	0.11924	0.131000	0.18576	0.528000	0.53228	ATA		0.338	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		C	33642036	T	C	33642036	3	2	215	1	0	0	0	0	1	0	0	0	2128	1512	53	3	106	3	C21orf45	21	33642036	Missense_Mutation	SNP	T	TCGA-B0-5697-01A-11D-1534-10		33642036	14487859	62	13037											
GPR143	4935	hgsc.bcm.edu;ucsc.edu	37	X	9714193	9714193	+	Splice_Site	SNP	C	C	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chrX:9714193C>T	ENST00000467482.1	-	5	695	c.549G>A	c.(547-549)agG>agA	p.R183R	GPR143_ENST00000380929.2_Splice_Site_p.R203R			P51810	GP143_HUMAN	G protein-coupled receptor 143	183					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CCCGCTCACACCTGAGAGAGG	0.488																																																0													58	50	53					X																	9714193		2203	4300	6503	SO:0001630	splice_region_variant	4935			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.549-1G>A	X.37:g.9714193C>T			Q6NTI7	Silent	SNP	ENST00000467482.1	37	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564668	0.27915	.	.	ENSG00000101850	ENST00000447366	.	.	.	4.78	0.602	0.17535	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	.	0.5771	0.00706	0.3449:0.2987:0.1306:0.2258	.	.	.	.	M	119	.	.	V	-	1	0	GPR143	9674193	1.000000	0.71417	0.750000	0.31169	0.864000	0.49448	0.810000	0.27183	0.296000	0.22592	0.594000	0.82650	GTG		0.488	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273	Silent	T	9714193	C	T	9714193	5	4	215	1	0	0	0	0	0	0	1	0	6653	521	18	2	685	2	GPR143	23	9714193	Splice_Site	SNP	C	TCGA-B0-5697-01A-11D-1534-10		9714193	145556367	63	13038											
IQSEC2	23096	broad.mit.edu;hgsc.bcm.edu	37	X	53284001	53284001	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chrX:53284001C>T	ENST00000375368.5	-	3	1282	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	IQSEC2_ENST00000396435.3_Missense_Mutation_p.R371H|IQSEC2_ENST00000375365.2_Missense_Mutation_p.R166H			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	361	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R368H(1)|p.R371H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GGCTGAGCTGCGTAGCCGCTC	0.592																																																2	Substitution - Missense(2)	kidney(2)											41	29	33					X																	53284001		2200	4299	6499	SO:0001583	missense	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1082G>A	X.37:g.53284001C>T	ENSP00000364517:p.Arg361His		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	C	35	5.432702	0.96150	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.63096	-0.02;-0.02;-0.02	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.62088	1.915	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80051	-0.1544	10	0.87932	D	0	.	16.3278	0.82994	0.0:1.0:0.0:0.0	.	371;166	Q5JU85-2;Q5JU85-3	.;.	H	371;361;166	ENSP00000379712:R371H;ENSP00000364517:R361H;ENSP00000364514:R166H	ENSP00000364514:R166H	R	-	2	0	IQSEC2	53300726	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.784000	0.85713	2.108000	0.64289	0.513000	0.50165	CGC		0.592	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		T	53284001	C	T	53284001	3	4	215	1	0	0	0	0	1	0	0	0	7820	768	27	1	3402	1	IQSEC2	23	53284001	Missense_Mutation	SNP	C	TCGA-B0-5697-01A-11D-1534-10	43569808	53284001	101986559	64	13039											
GPR119	139760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129518457	129518457	+	Missense_Mutation	SNP	G	G	A	rs138209054	byFrequency	TCGA-B0-5697-01A-11D-1534-10	TCGA-B0-5697-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ca4e638-5a95-4eeb-bfc4-257e8ea8fa66	2641ff9a-cb27-4feb-b9ec-c191e56673bb	g.chrX:129518457G>A	ENST00000276218.2	-	1	1054	c.965C>T	c.(964-966)tCc>tTc	p.S322F		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	322					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.S322F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GATGTGACAGGAACTTTCCCT	0.542																																																1	Substitution - Missense(1)	kidney(1)											102	93	96					X																	129518457		2203	4300	6503	SO:0001583	missense	139760			AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.965C>T	X.37:g.129518457G>A	ENSP00000276218:p.Ser322Phe		Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	7.269	0.606729	0.14002	.	.	ENSG00000147262	ENST00000276218	T	0.61392	0.11	5.25	3.49	0.39957	.	0.835826	0.10326	N	0.688123	T	0.42200	0.1192	N	0.24115	0.695	0.21967	N	0.999442	B	0.06786	0.001	B	0.06405	0.002	T	0.33675	-0.9859	10	0.56958	D	0.05	-0.9397	6.6711	0.23068	0.293:0.0:0.707:0.0	.	322	Q8TDV5	GP119_HUMAN	F	322	ENSP00000276218:S322F	ENSP00000276218:S322F	S	-	2	0	GPR119	129346138	0.376000	0.25098	0.058000	0.19502	0.750000	0.42670	2.339000	0.43965	0.595000	0.29777	0.600000	0.82982	TCC		0.542	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		A	129518457	G	A	129518457	3	1	215	1	0	0	0	0	1	0	0	0	6636	1174	41	2	46	2	GPR119	23	129518457	Missense_Mutation	SNP	G	TCGA-B0-5697-01A-11D-1534-10	76234456	129518457	25752103	65	13040											
NPHP4	261734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	5934954	5934954	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:5934954C>A	ENST00000378156.4	-	21	3289	c.3024G>T	c.(3022-3024)gaG>gaT	p.E1008D	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1008					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.E1008D(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTGTCGATCTCCACAGTCA	0.632																																																1	Substitution - Missense(1)	kidney(1)											76	90	85					1																	5934954		2087	4218	6305	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3024G>T	1.37:g.5934954C>A	ENSP00000367398:p.Glu1008Asp		Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.979690	0.34942	.	.	ENSG00000131697	ENST00000378156	D	0.84800	-1.9	4.95	4.03	0.46877	.	0.158127	0.42682	D	0.000666	T	0.79667	0.4485	L	0.45581	1.43	0.42647	D	0.993431	B	0.12630	0.006	B	0.12837	0.008	T	0.76239	-0.3032	10	0.38643	T	0.18	.	11.815	0.52204	0.0:0.9153:0.0:0.0846	.	1008	O75161	NPHP4_HUMAN	D	1008	ENSP00000367398:E1008D	ENSP00000367398:E1008D	E	-	3	2	NPHP4	5857541	1.000000	0.71417	0.952000	0.39060	0.381000	0.30169	2.045000	0.41250	2.306000	0.77630	0.550000	0.68814	GAG		0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			A	5934954	C	A	5934954	3	1	216	1	0	0	0	0	1	0	0	0	10583	912	32	4	1296	4	NPHP4	1	5934954	Missense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08		5934954	243315667	1	13041											
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10434522	10434522	+	Splice_Site	SNP	A	A	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:10434522A>C	ENST00000377086.1	+	46	5297	c.5095A>C	c.(5095-5097)Agc>Cgc	p.S1699R	KIF1B_ENST00000377081.1_Splice_Site_p.S1699R|KIF1B_ENST00000263934.6_Splice_Site_p.S1653R			O60333	KIF1B_HUMAN	kinesin family member 1B	1699					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.S1653R(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AATTAGACCAAGGTGAGTACT	0.428																																																1	Substitution - Missense(1)	kidney(1)											65	69	68					1																	10434522		2203	4300	6503	SO:0001630	splice_region_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.5096+1A>C	1.37:g.10434522A>C			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	A	22.8	4.341566	0.81911	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.12465	2.68;2.68;2.68	5.62	4.71	0.59529	Pleckstrin homology-type (1);	0.053759	0.85682	D	0.000000	T	0.20536	0.0494	L	0.32530	0.975	0.34787	D	0.735281	P;P;P;B;P;B	0.40553	0.721;0.481;0.592;0.271;0.623;0.002	P;B;B;B;P;B	0.50378	0.639;0.226;0.386;0.375;0.451;0.003	T	0.22765	-1.0207	10	0.66056	D	0.02	.	14.8337	0.70166	0.0691:0.0:0.9309:0.0	.	1685;1659;1699;1673;1699;1653	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	R	1699;1653;1699;1699	ENSP00000263934:S1653R;ENSP00000366290:S1699R;ENSP00000366284:S1699R	ENSP00000263934:S1653R	S	+	1	0	KIF1B	10357109	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.422000	0.80217	1.362000	0.46000	-0.140000	0.14226	AGC		0.428	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		Missense_Mutation	C	10434522	A	C	10434522	5	2	216	1	0	0	0	0	0	0	1	0	8286	86	3	5	6616	5	KIF1B	1	10434522	Splice_Site	SNP	A	TCGA-B0-5698-01A-11D-1669-08	4499568	10434522	238816099	2	13042											
UBIAD1	29914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11345857	11345858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:11345857_11345858insC	ENST00000376810.5	+	2	1012_1013	c.686_687insC	c.(685-690)ctccatfs	p.H230fs	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	230					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GAGGCCATTCTCCATTCCAACA	0.609																																																0																																										SO:0001589	frameshift_variant	29914				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.688dupC	1.37:g.11345859_11345859dupC	ENSP00000366006:p.His230fs		B3KQG3|Q53GX3|Q5THD4	Frame_Shift_Ins	INS	ENST00000376810.5	37	CCDS129.1																																																																																				0.609	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		C	11345858	-	C	11345857	7	5	216	1	0	1	1	0	0	0	0	0	16890	1551	54	0	692	0	UBIAD1	1	11345857	Frame_Shift_Ins	INS	-	TCGA-B0-5698-01A-11D-1669-08	911335	11345857	237904764	3	13043											
AADACL3	126767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12785830	12785830	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:12785830G>T	ENST00000359318.5	+	4	1125	c.920G>T	c.(919-921)gGa>gTa	p.G307V	AADACL3_ENST00000332530.3_Missense_Mutation_p.G237V	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	307							hydrolase activity (GO:0016787)	p.G237V(1)|p.G307V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGACCTGGGAGTGCCCGTG	0.517																																																2	Substitution - Missense(2)	kidney(2)											71	72	71					1																	12785830		1999	4153	6152	SO:0001583	missense	126767				CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.920G>T	1.37:g.12785830G>T	ENSP00000352268:p.Gly307Val		B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434399	0.62955	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.21031	2.03;2.03	5.54	4.6	0.57074	Alpha/beta hydrolase fold-3 (1);	0.311164	0.35320	N	0.003284	T	0.58438	0.2122	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.71576	-0.4551	10	0.87932	D	0	-11.6791	12.6318	0.56661	0.0828:0.0:0.9172:0.0	.	307;237	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	V	237;307	ENSP00000333352:G237V;ENSP00000352268:G307V	ENSP00000333352:G237V	G	+	2	0	AADACL3	12708417	0.999000	0.42202	0.651000	0.29564	0.767000	0.43475	3.436000	0.52856	1.261000	0.44149	0.491000	0.48974	GGA		0.517	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		T	12785830	G	T	12785830	3	4	216	1	0	0	0	0	1	0	0	0	12	1174	41	4	938	4	AADACL3	1	12785830	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	1439973	12785830	236464791	4	13044											
CYB5RL	606495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54644949	54644949	+	Missense_Mutation	SNP	T	T	G	rs369076808		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:54644949T>G	ENST00000534324.1	-	5	616	c.617A>C	c.(616-618)aAt>aCt	p.N206T	CYB5RL_ENST00000419823.2_Missense_Mutation_p.N206T|CYB5RL_ENST00000401046.3_Missense_Mutation_p.N58T|CYB5RL_ENST00000542737.1_Missense_Mutation_p.N206T|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000287899.8_Intron			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	206							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.N206T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GTCATTCTCATTGTCTGTGAT	0.537																																																1	Substitution - Missense(1)	kidney(1)											61	66	64					1																	54644949		1999	4161	6160	SO:0001583	missense	606495				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.617A>C	1.37:g.54644949T>G	ENSP00000434343:p.Asn206Thr		B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584104	0.65992	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000542737;ENST00000493530	D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13	5.37	5.37	0.77165	Oxidoreductase FAD/NAD(P)-binding (1);	0.640870	0.12545	U	0.459524	D	0.91901	0.7436	M	0.72118	2.19	0.30100	N	0.807514	D;D	0.61697	0.982;0.99	P;P	0.59825	0.864;0.843	D	0.88440	0.3041	10	0.72032	D	0.01	-6.4061	13.9555	0.64144	0.0:0.0:0.0:1.0	.	206;58	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	T	206;58;206;206;120	ENSP00000409075:N206T;ENSP00000383825:N58T;ENSP00000434343:N206T;ENSP00000438151:N206T;ENSP00000434606:N120T	ENSP00000383825:N58T	N	-	2	0	CYB5RL	54417537	1.000000	0.71417	0.881000	0.34555	0.537000	0.34900	5.501000	0.66950	2.028000	0.59812	0.533000	0.62120	AAT		0.537	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672		G	54644949	T	G	54644949	3	3	216	1	0	0	0	0	1	0	0	0	4132	1493	52	5	338	5	CYB5RL	1	54644949	Missense_Mutation	SNP	T	TCGA-B0-5698-01A-11D-1669-08	41859119	54644949	194605672	5	13045											
PRKACB	5567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	84670172	84670172	+	Intron	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:84670172G>C	ENST00000370689.2	+	8	1029				PRKACB_ENST00000370682.3_Intron|PRKACB_ENST00000370688.3_Nonstop_Mutation_p.*258S|PRKACB_ENST00000370680.1_Nonstop_Mutation_p.*265S|PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000394838.2_Intron|PRKACB_ENST00000370685.3_Intron	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)	p.*258S(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CAGAACTTTTGATATGAACAA	0.328																																																1	Nonstop extension(1)	kidney(1)											109	111	111					1																	84670172		2203	4297	6500	SO:0001627	intron_variant	5567			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.765+1684G>C	1.37:g.84670172G>C			B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	8.795	0.931431	0.18131	.	.	ENSG00000142875	ENST00000370688;ENST00000370684;ENST00000370680	.	.	.	4.04	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7283	0.08482	0.1659:0.0:0.6082:0.2259	.	.	.	.	S	258;246;265	.	.	X	+	2	2	PRKACB	84442760	0.047000	0.20315	0.007000	0.13788	0.219000	0.24729	1.177000	0.31969	0.271000	0.22005	-0.175000	0.13238	TGA		0.328	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		C	84670172	G	C	84670172	1	2	216	0	1	0	0	0	0	0	0	0	12503	1285	45	4		4	PRKACB	1	84670172	Intron	SNP	G	TCGA-B0-5698-01A-11D-1669-08	30025223	84670172	164580449	6	13046											
LRIG2	9860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113635893	113635893	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:113635893T>A	ENST00000361127.5	+	3	569	c.371T>A	c.(370-372)cTa>cAa	p.L124Q		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	124					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L124Q(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AATATTACTCTACTTTCATTG	0.254																																																1	Substitution - Missense(1)	kidney(1)											51	51	51					1																	113635893		2203	4296	6499	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.371T>A	1.37:g.113635893T>A	ENSP00000355396:p.Leu124Gln		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	T	5.287	0.238346	0.10023	.	.	ENSG00000198799	ENST00000361127	T	0.25085	1.82	5.5	0.173	0.15036	.	0.666605	0.14640	N	0.307243	T	0.04137	0.0115	L	0.28776	0.89	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45614	-0.9249	10	0.10902	T	0.67	.	6.2758	0.20979	0.3517:0.0651:0.0:0.5832	.	124	O94898	LRIG2_HUMAN	Q	124	ENSP00000355396:L124Q	ENSP00000355396:L124Q	L	+	2	0	LRIG2	113437416	0.004000	0.15560	0.805000	0.32314	0.898000	0.52572	1.084000	0.30828	-0.232000	0.09811	0.533000	0.62120	CTA		0.254	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		A	113635893	T	A	113635893	3	1	216	1	0	0	0	0	1	0	0	0	8947	1522	53	5	381	5	LRIG2	1	113635893	Missense_Mutation	SNP	T	TCGA-B0-5698-01A-11D-1669-08	28965721	113635893	135614728	7	13047											
PTPRC	5788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	198678874	198678874	+	Missense_Mutation	SNP	G	G	C	rs139425744		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:198678874G>C	ENST00000367376.2	+	11	1257	c.1086G>C	c.(1084-1086)gaG>gaC	p.E362D	PTPRC_ENST00000352140.3_Missense_Mutation_p.E314D|PTPRC_ENST00000594404.1_Missense_Mutation_p.E201D|PTPRC_ENST00000348564.6_Missense_Mutation_p.E203D|PTPRC_ENST00000442510.2_Missense_Mutation_p.E364D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	362			Missing (in T(-)B(+)NK(+) SCID; associated with lack of surface expression). {ECO:0000269|PubMed:11145714}.		axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E362D(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCGAACATGAGTATAAGTGTG	0.269																																																1	Substitution - Missense(1)	kidney(1)											61	73	69					1																	198678874		2197	4270	6467	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1086G>C	1.37:g.198678874G>C	ENSP00000356346:p.Glu362Asp		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	G	3.651	-0.071528	0.07228	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T;T;T;T;T	0.11169	4.2;2.8;4.3;3.82;4.27	4.48	-8.97	0.00758	.	1.183310	0.06228	N	0.688049	T	0.03520	0.0101	N	0.11427	0.14	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.002;0.001;0.001;0.001	B;B;B;B;B	0.13407	0.009;0.004;0.001;0.002;0.001	T	0.37526	-0.9702	10	0.18276	T	0.48	.	0.8998	0.01271	0.3079:0.3078:0.2136:0.1706	.	298;298;203;314;362	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	D	364;298;314;314;248;362;296;201	ENSP00000193532:E314D;ENSP00000433536:E248D;ENSP00000411355:E362D;ENSP00000356337:E296D;ENSP00000306782:E201D	ENSP00000306782:E201D	E	+	3	2	PTPRC	196945497	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.170000	0.03118	-2.781000	0.00360	-2.475000	0.00201	GAG		0.269	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				C	198678874	G	C	198678874	3	2	216	1	0	0	0	0	1	0	0	0	12803	1020	36	4	1135	4	PTPRC	1	198678874	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	85042981	198678874	50571747	8	13048	97	2									
PTPRC	5788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	198678876	198678876	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:198678876A>T	ENST00000367376.2	+	11	1259	c.1088A>T	c.(1087-1089)tAt>tTt	p.Y363F	PTPRC_ENST00000352140.3_Missense_Mutation_p.Y315F|PTPRC_ENST00000594404.1_Missense_Mutation_p.Y202F|PTPRC_ENST00000348564.6_Missense_Mutation_p.Y204F|PTPRC_ENST00000442510.2_Missense_Mutation_p.Y365F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	363			Missing (in T(-)B(+)NK(+) SCID; associated with lack of surface expression). {ECO:0000269|PubMed:11145714}.		axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Y363F(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAACATGAGTATAAGTGTGAC	0.269																																																1	Substitution - Missense(1)	kidney(1)											63	74	70					1																	198678876		2197	4272	6469	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1088A>T	1.37:g.198678876A>T	ENSP00000356346:p.Tyr363Phe		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	A	16.21	3.058696	0.55325	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.10005	2.92	4.48	4.48	0.54585	.	0.000000	0.41605	D	0.000845	T	0.28566	0.0707	M	0.65975	2.015	0.09310	N	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.989;0.998;0.989	T	0.03043	-1.1079	10	0.87932	D	0	.	10.347	0.43911	1.0:0.0:0.0:0.0	.	299;299;204;315;363	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	F	365;299;315;315;249;363;297;202	ENSP00000193532:Y315F	ENSP00000306782:Y202F	Y	+	2	0	PTPRC	196945499	0.165000	0.22948	0.025000	0.17156	0.002000	0.02628	2.368000	0.44222	2.001000	0.58596	0.482000	0.46254	TAT		0.269	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	198678876	A	T	198678876	3	4	216	1	0	0	0	0	1	0	0	0	12803	449	16	5	1137	5	PTPRC	1	198678876	Missense_Mutation	SNP	A	TCGA-B0-5698-01A-11D-1669-08	2	198678876	50571745	9	13049	97	2									
SUSD4	55061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223408420	223408420	+	Intron	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr1:223408420G>A	ENST00000343846.3	-	5	1358				SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000344029.6_Silent_p.F249F|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000494793.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)		p.F249F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAAGGACAGGGAAAAGATGTT	0.398																																																1	Substitution - coding silent(1)	kidney(1)											87	81	83					1																	223408420		2203	4300	6503	SO:0001627	intron_variant	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.725-5690C>T	1.37:g.223408420G>A			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	CCDS41471.1																																																																																				0.398	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		A	223408420	G	A	223408420	1	1	216	0	1	0	0	0	0	0	0	0	15415	1165	41	2		2	SUSD4	1	223408420	Intron	SNP	G	TCGA-B0-5698-01A-11D-1669-08	24729544	223408420	25842201	10	13050											
TANC1	85461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160042345	160042345	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:160042345G>C	ENST00000263635.6	+	15	2791	c.2554G>C	c.(2554-2556)Ggc>Cgc	p.G852R	TANC1_ENST00000454300.1_Missense_Mutation_p.G746R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	852					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.G852R(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCGTCAGGAGGGCAAGTTGAA	0.552											OREG0015033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											79	80	80					2																	160042345		2100	4211	6311	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2554G>C	2.37:g.160042345G>C	ENSP00000263635:p.Gly852Arg	1806	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540203	0.65085	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.69806	-0.41;-0.43	6.1	4.29	0.51040	.	0.200599	0.53938	D	0.000055	T	0.73426	0.3585	M	0.73598	2.24	0.58432	D	0.999999	P;P;B	0.42973	0.693;0.796;0.068	B;P;B	0.49637	0.413;0.617;0.059	T	0.73726	-0.3892	10	0.49607	T	0.09	.	12.1277	0.53926	0.1392:0.0:0.8608:0.0	.	844;746;852	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	R	746;852	ENSP00000396339:G746R;ENSP00000263635:G852R	ENSP00000263635:G852R	G	+	1	0	TANC1	159750591	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.792000	0.69052	0.886000	0.36113	0.650000	0.86243	GGC		0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			C	160042345	G	C	160042345	3	2	216	1	0	0	0	0	1	0	0	0	15549	1232	43	4	2604	4	TANC1	2	160042345	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08		160042345	83157028	11	13051											
SLC4A10	57282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	162661045	162661046	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:162661045_162661046delAG	ENST00000446997.1	+	3	310_311	c.217_218delAG	c.(217-219)agafs	p.R73fs	SLC4A10_ENST00000535165.1_Frame_Shift_Del_p.R73fs|SLC4A10_ENST00000272716.5_Frame_Shift_Del_p.R73fs|SLC4A10_ENST00000375514.5_Frame_Shift_Del_p.R84fs|SLC4A10_ENST00000421911.1_Frame_Shift_Del_p.R73fs|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Frame_Shift_Del_p.R73fs	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	73					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCATAAACACAGAAAGAGAGAC	0.406																																																0																																										SO:0001589	frameshift_variant	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.217_218delAG	2.37:g.162661045_162661046delAG	ENSP00000393066:p.Arg73fs		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Frame_Shift_Del	DEL	ENST00000446997.1	37	CCDS54411.1																																																																																				0.406	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		-	162661046	AG	-	162661045	7	5	216	1	0	1	0	1	0	0	0	0	14657	180	7	0	312	0	SLC4A10	2	162661045	Frame_Shift_Del	DEL	AG	TCGA-B0-5698-01A-11D-1669-08	2618700	162661045	80538328	12	13052											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179404241	179404241	+	Nonsense_Mutation	SNP	G	G	A	rs553821887		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:179404241G>A	ENST00000591111.1	-	302	93852	c.93628C>T	c.(93628-93630)Cga>Tga	p.R31210*	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R23978*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R23911*|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R32851*|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R23786*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R30283*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31210	Fibronectin type-III 127. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R23786*(1)|p.R23911*(1)|p.R30281*(1)|p.R30283*(1)|p.R23978*(1)		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)			GATGTACCTCGGACTCTGGAA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		22308	0.0		0.0	False		,,,				2504	0.001															5	Substitution - Nonsense(5)	kidney(5)											177	161	166					2																	179404241		1932	4136	6068	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93628C>T	2.37:g.179404241G>A	ENSP00000465570:p.Arg31210*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	69	107.737810	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.79	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.188	0.54250	0.0:0.0:0.4231:0.5769	.	.	.	.	X	30283;23786;23978;23911;23783	.	ENSP00000340554:R23978X	R	-	1	2	TTN	179112487	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	4.557000	0.60782	1.402000	0.46780	0.655000	0.94253	CGA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179404241	G	A	179404241	4	1	216	1	0	0	0	0	0	1	0	0	16740	1124	39	1	9472	1	TTN	2	179404241	Nonsense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	16743196	179404241	63795132	13	13053											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179476554	179476554	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:179476554C>A	ENST00000591111.1	-	218	45783	c.45559G>T	c.(45559-45561)Gct>Tct	p.A15187S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7955S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7888S|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A16828S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7763S|TTN_ENST00000342992.6_Missense_Mutation_p.A14260S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15187	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A14260S(2)|p.A7955S(1)|p.A7763S(1)|p.A7888S(1)		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)			TCATTTTCAGCCCGAACCTGA	0.458																																																5	Substitution - Missense(5)	kidney(5)											134	128	130					2																	179476554		1927	4145	6072	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45559G>T	2.37:g.179476554C>A	ENSP00000465570:p.Ala15187Ser		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.03	2.115438	0.37339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.97	5.06	0.68205	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80819	0.4696	M	0.88450	2.955	0.58432	D	0.999996	P;P;P;P	0.48503	0.911;0.911;0.911;0.911	P;P;P;P	0.53102	0.718;0.718;0.718;0.718	D	0.84565	0.0652	9	0.87932	D	0	.	16.5828	0.84718	0.131:0.869:0.0:0.0	.	7763;7888;7955;15187	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	14260;7763;7955;7888;7763	ENSP00000343764:A14260S;ENSP00000434586:A7763S;ENSP00000340554:A7955S;ENSP00000352154:A7888S	ENSP00000340554:A7955S	A	-	1	0	TTN	179184799	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.770000	0.85390	2.828000	0.97474	0.650000	0.86243	GCT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179476554	C	A	179476554	3	1	216	1	0	0	0	0	1	0	0	0	16740	739	26	4	57591	4	TTN	2	179476554	Missense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08	72313	179476554	63722819	14	13054											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179485685	179485685	+	Missense_Mutation	SNP	G	G	A	rs371621174		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:179485685G>A	ENST00000591111.1	-	197	40953	c.40729C>T	c.(40729-40731)Cgg>Tgg	p.R13577W	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6345W|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6278W|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15218W|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6153W|TTN_ENST00000342992.6_Missense_Mutation_p.R12650W|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13577	Ig-like 92.				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)	p.R12650W(2)|p.R6278W(1)|p.R6153W(1)|p.R6345W(1)		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)			TCCTTCACCCGGGTGTCCTTA	0.373																																																5	Substitution - Missense(5)	kidney(5)						G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,3696		0,0,1848	74	69	70		18457,37948,18832,19033	4.9	0.9	2		70	1,8167		0,1,4083	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	101,101,101,101	0,1,5931	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	6153/26927,12650/33424,6278/27052,6345/27119	179485685	1,11863	1848	4084	5932	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40729C>T	2.37:g.179485685G>A	ENSP00000465570:p.Arg13577Trp		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.10	1.538760	0.27475	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.83	4.93	0.64822	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60907	0.2305	L	0.45352	1.415	0.26266	N	0.978494	D;D;D;D	0.61697	0.964;0.964;0.99;0.964	B;B;B;B	0.43360	0.417;0.417;0.417;0.417	T	0.57406	-0.7817	9	0.87932	D	0	.	11.4166	0.49956	0.0:0.1683:0.7075:0.1241	.	6153;6278;6345;13577	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	12650;6153;6345;6278;6153	ENSP00000343764:R12650W;ENSP00000434586:R6153W;ENSP00000340554:R6345W;ENSP00000352154:R6278W	ENSP00000340554:R6345W	R	-	1	2	TTN	179193930	1.000000	0.71417	0.944000	0.38274	0.998000	0.95712	3.777000	0.55364	1.405000	0.46838	0.655000	0.94253	CGG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179485685	G	A	179485685	3	1	216	1	0	0	0	0	1	0	0	0	16740	1115	39	1	62505	1	TTN	2	179485685	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	9131	179485685	63713688	15	13055											
SF3B1	23451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	198266611	198266611	+	Splice_Site	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:198266611C>T	ENST00000335508.6	-	16	2316	c.2225G>A	c.(2224-2226)gGt>gAt	p.G742D	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	742					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.G742D(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGCAGCCAAACCCtattttta	0.303			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)											52	56	55					2																	198266611		2192	4291	6483	SO:0001630	splice_region_variant	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2224-1G>A	2.37:g.198266611C>T			E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818435	0.71028	.	.	ENSG00000115524	ENST00000335508	T	0.64991	-0.13	5.71	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	M	0.93241	3.395	0.80722	D	1	D	0.54397	0.966	P	0.61070	0.883	D	0.86070	0.1537	10	0.51188	T	0.08	.	14.7251	0.69339	0.0:0.9305:0.0:0.0695	.	742	O75533	SF3B1_HUMAN	D	742	ENSP00000335321:G742D	ENSP00000335321:G742D	G	-	2	0	SF3B1	197974856	1.000000	0.71417	0.998000	0.56505	0.710000	0.40934	7.760000	0.85248	1.415000	0.47037	-0.140000	0.14226	GGT		0.303	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		Missense_Mutation	T	198266611	C	T	198266611	5	4	216	1	0	0	0	0	0	0	1	0	14155	521	18	2	1729	2	SF3B1	2	198266611	Splice_Site	SNP	C	TCGA-B0-5698-01A-11D-1669-08	18780926	198266611	44932762	16	13056											
TMEM169	92691	hgsc.bcm.edu;ucsc.edu	37	2	216960807	216960807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr2:216960807delA	ENST00000295658.4	+	2	328	c.121delA	c.(121-123)aaafs	p.K43fs	TMEM169_ENST00000406027.2_Frame_Shift_Del_p.K43fs|TMEM169_ENST00000437356.2_Frame_Shift_Del_p.K43fs|TMEM169_ENST00000454545.1_Frame_Shift_Del_p.K43fs	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	43						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCACAGGAAAAAGAAGAG	0.557																																																0													69	70	70					2																	216960807		2203	4300	6503	SO:0001589	frameshift_variant	92691			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.121delA	2.37:g.216960807delA	ENSP00000295658:p.Lys43fs		B2R8W6	Frame_Shift_Del	DEL	ENST00000295658.4	37	CCDS2401.1																																																																																				0.557	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		-	216960807	A	-	216960807	7	5	216	1	0	1	0	1	0	0	0	0	16089	247	9	0	123	0	TMEM169	2	216960807	Frame_Shift_Del	DEL	A	TCGA-B0-5698-01A-11D-1669-08	18694196	216960807	26238566	17	13057											
GNAI2	2771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	50294255	50294255	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr3:50294255G>T	ENST00000313601.6	+	6	1078	c.694G>T	c.(694-696)Gac>Tac	p.D232Y	GNAI2_ENST00000422163.1_Missense_Mutation_p.D216Y|GNAI2_ENST00000451956.1_Missense_Mutation_p.D195Y|GNAI2_ENST00000536647.1_Missense_Mutation_p.D151Y|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.D180Y|GNAI2_ENST00000266027.5_Missense_Mutation_p.D216Y	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	232					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.D232Y(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GAGCGCCTATGACTTGGTGCT	0.582																																																1	Substitution - Missense(1)	kidney(1)											129	121	124					3																	50294255		2203	4300	6503	SO:0001583	missense	2771			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.694G>T	3.37:g.50294255G>T	ENSP00000312999:p.Asp232Tyr		B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	37	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796176	0.90453	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	4.84	4.84	0.62591	.	0.092804	0.64402	D	0.000001	D	0.97895	0.9308	H	0.99312	4.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.98911	1.0780	10	0.87932	D	0	.	15.8452	0.78883	0.0:0.0:1.0:0.0	.	195;232;216;216	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	Y	216;232;151;232;180;195;216	ENSP00000406871:D216Y;ENSP00000312999:D232Y;ENSP00000444360:D151Y;ENSP00000395736:D180Y;ENSP00000406369:D195Y;ENSP00000266027:D216Y	ENSP00000266027:D216Y	D	+	1	0	GNAI2	50269259	1.000000	0.71417	0.988000	0.46212	0.956000	0.61745	9.596000	0.98267	2.700000	0.92200	0.561000	0.74099	GAC		0.582	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		T	50294255	G	T	50294255	3	4	216	1	0	0	0	0	1	0	0	0	6507	1290	45	4	727	4	GNAI2	3	50294255	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08		50294255	147728175	18	13058											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52610584	52610584	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr3:52610584delC	ENST00000296302.7	-	22	3665	c.3664delG	c.(3664-3666)gaafs	p.E1222fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E1237fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.E1190fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E1237fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E1222fs			Q86U86	PB1_HUMAN	polybromo 1	1222	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGGCAGGTTTCTTCCAGATTA	0.373			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													137	132	134					3																	52610584		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3664delG	3.37:g.52610584delC	ENSP00000296302:p.Glu1222fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52610584	C	-	52610584	7	5	216	1	0	1	0	1	0	0	0	0	11493	922	32	0	1272	0	PBRM1	3	52610584	Frame_Shift_Del	DEL	C	TCGA-B0-5698-01A-11D-1669-08	2316329	52610584	145411846	19	13059											
ZBTB20	26137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	114070318	114070318	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr3:114070318C>T	ENST00000474710.1	-	4	785	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	ZBTB20_ENST00000464560.1_Missense_Mutation_p.G130R|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G130R|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G130R|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G130R|ZBTB20_ENST00000462705.1_Missense_Mutation_p.G130R|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G130R	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	203						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.G130R(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCCTGGATCCCCGGGAACACA	0.652																																					NSCLC(69;748 1344 9802 11203 30933)											1	Substitution - Missense(1)	kidney(1)											70	62	65					3																	114070318		2203	4300	6503	SO:0001583	missense	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.607G>A	3.37:g.114070318C>T	ENSP00000419153:p.Gly203Arg		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.107905	0.37242	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10668	2.88;2.88;2.88;2.88;2.85;2.88;2.88	5.19	5.19	0.71726	.	0.114392	0.64402	D	0.000013	T	0.09069	0.0224	N	0.19112	0.55	0.49798	D	0.999821	B	0.22480	0.07	B	0.22386	0.039	T	0.12837	-1.0532	10	0.72032	D	0.01	.	14.5107	0.67784	0.0:0.8537:0.1463:0.0	.	203	Q9HC78	ZBT20_HUMAN	R	130;130;130;130;203;130;130	ENSP00000420324:G130R;ENSP00000377375:G130R;ENSP00000418092:G130R;ENSP00000419902:G130R;ENSP00000419153:G203R;ENSP00000349803:G130R;ENSP00000417307:G130R	ENSP00000349803:G130R	G	-	1	0	ZBTB20	115553008	0.982000	0.34865	0.993000	0.49108	0.994000	0.84299	2.377000	0.44300	2.706000	0.92434	0.650000	0.86243	GGG		0.652	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		T	114070318	C	T	114070318	3	4	216	1	0	0	0	0	1	0	0	0	17534	623	22	2	1626	2	ZBTB20	3	114070318	Missense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08	61459734	114070318	83952112	20	13060											
STAG1	10274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	136240212	136240212	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr3:136240212delT	ENST00000383202.2	-	7	775	c.519delA	c.(517-519)aaafs	p.K173fs	STAG1_ENST00000480733.1_Frame_Shift_Del_p.K173fs|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Frame_Shift_Del_p.K173fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	173					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTGAACGAAATTTTTTCCACT	0.348																																																0													82	83	83					3																	136240212		2203	4300	6503	SO:0001589	frameshift_variant	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.519delA	3.37:g.136240212delT	ENSP00000372689:p.Lys173fs		O00539|Q6P275	Frame_Shift_Del	DEL	ENST00000383202.2	37	CCDS3090.1																																																																																				0.348	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		-	136240212	T	-	136240212	7	5	216	1	0	1	0	1	0	0	0	0	15247	1490	52	0	3369	0	STAG1	3	136240212	Frame_Shift_Del	DEL	T	TCGA-B0-5698-01A-11D-1669-08	22169894	136240212	61782218	21	13061											
IL1RAP	3556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	190321925	190321925	+	Missense_Mutation	SNP	G	G	A	rs376392541		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr3:190321925G>A	ENST00000412504.2	+	3	325	c.73G>A	c.(73-75)Gat>Aat	p.D25N	IL1RAP_ENST00000317757.3_Missense_Mutation_p.D25N|IL1RAP_ENST00000443369.2_Missense_Mutation_p.D25N|IL1RAP_ENST00000072516.3_Missense_Mutation_p.D25N|IL1RAP_ENST00000422485.1_Missense_Mutation_p.D25N|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.D25N|IL1RAP_ENST00000422940.1_Missense_Mutation_p.D25N|IL1RAP_ENST00000439062.1_Missense_Mutation_p.D25N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	25	Ig-like C2-type 1.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)	p.D25N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AGAACGCTGCGATGACTGGGG	0.448																																																2	Substitution - Missense(2)	kidney(2)						G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	72	68	70		73,73,73,73,73,73	5.3	1	3		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	IL1RAP	NM_001167928.1,NM_001167929.1,NM_001167930.1,NM_001167931.1,NM_002182.3,NM_134470.3	23,23,23,23,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	25/571,25/571,25/357,25/688,25/571,25/357	190321925	1,13005	2203	4300	6503	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.73G>A	3.37:g.190321925G>A	ENSP00000412053:p.Asp25Asn		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029645	0.35797	0.0	1.16E-4	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422625;ENST00000422485;ENST00000422940;ENST00000317757;ENST00000453359	T;T;T;T;T;T;T;T;T	0.44083	5.21;4.87;5.21;5.21;5.21;3.11;3.11;4.87;0.93	5.34	5.34	0.76211	.	0.121633	0.53938	D	0.000042	T	0.39253	0.1071	L	0.36672	1.1	0.48830	D	0.999718	P;P;D	0.64830	0.892;0.828;0.994	B;B;P	0.50537	0.336;0.127;0.643	T	0.04708	-1.0932	10	0.16896	T	0.51	.	11.8307	0.52293	0.08:0.0:0.92:0.0	.	25;25;25	Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;IL1AP_HUMAN;.	N	25	ENSP00000072516:D25N;ENSP00000408893:D25N;ENSP00000412053:D25N;ENSP00000401132:D25N;ENSP00000390541:D25N;ENSP00000409352:D25N;ENSP00000387371:D25N;ENSP00000314807:D25N;ENSP00000412008:D25N	ENSP00000072516:D25N	D	+	1	0	IL1RAP	191804619	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.774000	0.75012	2.664000	0.90586	0.655000	0.94253	GAT		0.448	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			A	190321925	G	A	190321925	3	1	216	1	0	0	0	0	1	0	0	0	7662	1058	37	1	79	1	IL1RAP	3	190321925	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	54081713	190321925	7700505	22	13062											
STK32B	55351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	5461876	5461876	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr4:5461876T>C	ENST00000282908.5	+	9	1252	c.830T>C	c.(829-831)aTa>aCa	p.I277T	RN7SKP275_ENST00000364626.1_RNA|STK32B_ENST00000512636.1_Missense_Mutation_p.I200T|STK32B_ENST00000510398.1_Missense_Mutation_p.I230T|STK32B_ENST00000508728.1_3'UTR	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.I277T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CTTCATGACATACAGAGCGTG	0.552											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											135	111	119					4																	5461876		2203	4300	6503	SO:0001583	missense	55351			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.830T>C	4.37:g.5461876T>C	ENSP00000282908:p.Ile277Thr	626		Missense_Mutation	SNP	ENST00000282908.5	37	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	t	14.83	2.653885	0.47362	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.69306	-0.39;-0.39;-0.39	4.65	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.648445	0.12303	U	0.480914	T	0.70842	0.3270	M	0.79805	2.47	0.21652	N	0.999601	B	0.29671	0.254	B	0.32289	0.143	T	0.66488	-0.5911	10	0.87932	D	0	.	13.2364	0.59971	0.0:0.0:0.0:1.0	.	277	Q9NY57	ST32B_HUMAN	T	277;200;230	ENSP00000282908:I277T;ENSP00000423209:I200T;ENSP00000420984:I230T	ENSP00000282908:I277T	I	+	2	0	STK32B	5512777	0.902000	0.30710	0.004000	0.12327	0.236000	0.25371	6.880000	0.75578	1.870000	0.54199	0.449000	0.29647	ATA		0.552	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		C	5461876	T	C	5461876	3	2	216	1	0	0	0	0	1	0	0	0	15303	1406	49	3	864	3	STK32B	4	5461876	Missense_Mutation	SNP	T	TCGA-B0-5698-01A-11D-1669-08		5461876	185692400	23	13063											
PCDH10	57575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	134071550	134071550	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr4:134071550C>A	ENST00000264360.5	+	1	1081	c.255C>A	c.(253-255)tgC>tgA	p.C85*	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	85	Cadherin 1. {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)	p.C85*(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACAAATCTGCAAACAGAGCC	0.542																																																1	Substitution - Nonsense(1)	kidney(1)											64	71	68					4																	134071550		2203	4300	6503	SO:0001587	stop_gained	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.255C>A	4.37:g.134071550C>A	ENSP00000264360:p.Cys85*		Q4W5F6|Q96SF0	Nonsense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	42	9.271604	0.99120	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	4.66	1.87	0.25490	.	0.000000	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.106	0.42533	0.0:0.7667:0.0:0.2333	.	.	.	.	X	85	.	ENSP00000264360:C85X	C	+	3	2	PCDH10	134291000	0.998000	0.40836	1.000000	0.80357	0.647000	0.38526	0.842000	0.27627	0.545000	0.28902	0.555000	0.69702	TGC		0.542	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		A	134071550	C	A	134071550	4	1	216	1	0	0	0	0	0	1	0	0	11509	718	25	4	257	4	PCDH10	4	134071550	Nonsense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08	128609674	134071550	57082726	24	13064											
YTHDC2	64848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112888982	112888982	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr5:112888982G>C	ENST00000161863.4	+	13	2006	c.1793G>C	c.(1792-1794)aGt>aCt	p.S598T	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S598T	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	598					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.S598T(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TATCATCATAGTTTCGATGAT	0.373																																																1	Substitution - Missense(1)	kidney(1)											68	64	65					5																	112888982		2201	4299	6500	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1793G>C	5.37:g.112888982G>C	ENSP00000161863:p.Ser598Thr		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077178	0.36662	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.06849	4.25;3.25	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	L	0.29908	0.895	0.45307	D	0.998308	B	0.26483	0.15	B	0.19946	0.027	T	0.35748	-0.9776	10	0.17832	T	0.49	.	19.8209	0.96592	0.0:0.0:1.0:0.0	.	598	Q9H6S0	YTDC2_HUMAN	T	598;598;508	ENSP00000161863:S598T;ENSP00000423101:S598T	ENSP00000161863:S598T	S	+	2	0	YTHDC2	112916881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.684000	0.91462	0.650000	0.86243	AGT		0.373	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		C	112888982	G	C	112888982	3	2	216	1	0	0	0	0	1	0	0	0	17502	1029	36	4	1843	4	YTHDC2	5	112888982	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08		112888982	68026278	25	13065											
ACSL6	23305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131296216	131296216	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr5:131296216A>T	ENST00000379240.1	-	19	2034	c.1881T>A	c.(1879-1881)aaT>aaA	p.N627K	ACSL6_ENST00000379264.2_Missense_Mutation_p.N652K|ACSL6_ENST00000357096.1_Missense_Mutation_p.N552K|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000296869.4_Missense_Mutation_p.N652K|ACSL6_ENST00000379255.1_Missense_Mutation_p.N552K|ACSL6_ENST00000379249.3_Missense_Mutation_p.N627K|ACSL6_ENST00000431707.1_Missense_Mutation_p.N607K|ACSL6_ENST00000379272.2_Missense_Mutation_p.N642K|ACSL6_ENST00000379246.1_Missense_Mutation_p.N638K|ACSL6_ENST00000543479.1_Missense_Mutation_p.N627K|ACSL6_ENST00000544770.1_Missense_Mutation_p.N536K|ACSL6_ENST00000379244.1_Missense_Mutation_p.N627K			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	627					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.N652K(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACCAACCTTATTTGTGCAGA	0.448																																																2	Substitution - Missense(2)	kidney(2)											179	163	168					5																	131296216		2203	4300	6503	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1881T>A	5.37:g.131296216A>T	ENSP00000368542:p.Asn627Lys		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	A	12.15	1.851574	0.32699	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.16743	2.32;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99	5.68	1.84	0.25277	.	0.210114	0.56097	N	0.000025	T	0.18593	0.0446	M	0.74389	2.26	0.45690	D	0.998607	B;B;B;B;B;B;B	0.19445	0.008;0.016;0.012;0.005;0.009;0.036;0.021	B;B;B;B;B;B;B	0.25987	0.028;0.046;0.016;0.012;0.028;0.065;0.045	T	0.04509	-1.0946	10	0.52906	T	0.07	.	4.5377	0.12042	0.6881:0.1251:0.0669:0.1199	.	627;642;617;627;552;652;652	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	K	627;652;642;552;552;652;638;627;536;627;607;627	ENSP00000368551:N627K;ENSP00000368566:N652K;ENSP00000368574:N642K;ENSP00000349608:N552K;ENSP00000368557:N552K;ENSP00000296869:N652K;ENSP00000368548:N638K;ENSP00000368546:N627K;ENSP00000445154:N536K;ENSP00000368542:N627K;ENSP00000413329:N607K;ENSP00000442124:N627K	ENSP00000296869:N652K	N	-	3	2	ACSL6	131324115	1.000000	0.71417	0.612000	0.29024	0.384000	0.30261	2.892000	0.48625	0.390000	0.25115	0.459000	0.35465	AAT		0.448	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		T	131296216	A	T	131296216	3	4	216	1	0	0	0	0	1	0	0	0	181	446	16	5	224	5	ACSL6	5	131296216	Missense_Mutation	SNP	A	TCGA-B0-5698-01A-11D-1669-08	18407234	131296216	49619044	26	13066											
ZNF311	282890	broad.mit.edu;hgsc.bcm.edu	37	6	28967350	28967350	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:28967350delT	ENST00000377179.3	-	5	736	c.224delA	c.(223-225)aacfs	p.N75fs	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CCACTCCCTGTTAGTGAAGTT	0.448																																																0													158	122	135					6																	28967350		1511	2709	4220	SO:0001589	frameshift_variant	282890			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.224delA	6.37:g.28967350delT	ENSP00000366384:p.Asn75fs		A2BFK5|B0S7Y4|Q92971	Frame_Shift_Del	DEL	ENST00000377179.3	37	CCDS34357.1																																																																																				0.448	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		-	28967350	T	-	28967350	7	5	216	1	0	1	0	1	0	0	0	0	17839	1725	60	0	1788	0	ZNF311	6	28967350	Frame_Shift_Del	DEL	T	TCGA-B0-5698-01A-11D-1669-08		28967350	142147717	27	13067											
PRRT1	80863	broad.mit.edu;hgsc.bcm.edu	37	6	32117130	32117130	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:32117130C>T	ENST00000211413.5	-	4	914	c.790G>A	c.(790-792)Gct>Act	p.A264T	PRRT1_ENST00000375150.2_Missense_Mutation_p.A183T|PRRT1_ENST00000375152.2_Missense_Mutation_p.A183T|PRRT1_ENST00000467780.1_5'UTR	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	264					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A264T(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TCGCGTGAAGCGATCTCGGCC	0.652																																																1	Substitution - Missense(1)	kidney(1)											33	29	30					6																	32117130		1507	2707	4214	SO:0001583	missense	80863			AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"Proline-rich transmembrane proteins"	13943	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 7"		"chromosome 6 open reading frame 31"	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.790G>A	6.37:g.32117130C>T	ENSP00000211413:p.Ala264Thr		A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP	ENST00000211413.5	37	CCDS4739.1	.	.	.	.	.	.	.	.	.	.	c	35	5.507660	0.96386	.	.	ENSG00000204314	ENST00000211413;ENST00000375150;ENST00000375152	D;D;D	0.87729	-2.29;-2.29;-2.29	4.99	4.99	0.66335	.	.	.	.	.	D	0.91297	0.7256	M	0.72479	2.2	0.54753	D	0.999987	D;D	0.76494	0.999;0.967	D;P	0.80764	0.994;0.801	D	0.91328	0.5087	9	0.49607	T	0.09	-5.5816	15.7852	0.78297	0.0:1.0:0.0:0.0	.	264;183	Q99946;Q99946-2	PRRT1_HUMAN;.	T	264;183;183	ENSP00000211413:A264T;ENSP00000364292:A183T;ENSP00000364294:A183T	ENSP00000211413:A264T	A	-	1	0	PRRT1	32225108	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	6.713000	0.74686	2.332000	0.79248	0.645000	0.84053	GCT		0.652	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651		T	32117130	C	T	32117130	3	4	216	1	0	0	0	0	1	0	0	0	12614	768	27	1	134	1	PRRT1	6	32117130	Missense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08	3149780	32117130	138997937	28	13068											
PRPH2	5961	broad.mit.edu;ucsc.edu	37	6	42666085	42666085	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:42666085T>C	ENST00000230381.5	-	3	1228	c.989A>G	c.(988-990)aAc>aGc	p.N330S		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	330					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.N330S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TTCCACCTGGTTGCCCTTGCC	0.657																																																1	Substitution - Missense(1)	kidney(1)											51	54	53					6																	42666085		2203	4300	6503	SO:0001583	missense	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.989A>G	6.37:g.42666085T>C	ENSP00000230381:p.Asn330Ser		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.570206	0.45798	.	.	ENSG00000112619	ENST00000230381	T	0.02974	4.09	5.44	4.07	0.47477	.	0.349704	0.35708	N	0.003028	T	0.01592	0.0051	L	0.46670	1.46	0.44834	D	0.997847	B	0.19445	0.036	B	0.12156	0.007	T	0.41980	-0.9478	10	0.51188	T	0.08	.	11.8558	0.52437	0.0:0.08:0.0:0.92	.	330	P23942	PRPH2_HUMAN	S	330	ENSP00000230381:N330S	ENSP00000230381:N330S	N	-	2	0	PRPH2	42774063	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.685000	0.46959	2.062000	0.61559	0.533000	0.62120	AAC		0.657	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		C	42666085	T	C	42666085	3	2	216	1	0	0	0	0	1	0	0	0	12582	1725	60	3	55	3	PRPH2	6	42666085	Missense_Mutation	SNP	T	TCGA-B0-5698-01A-11D-1669-08	10548955	42666085	128448982	29	13069											
TMEM63B	55362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44107217	44107217	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:44107217C>T	ENST00000259746.9	+	7	604	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Missense_Mutation_p.R141W			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	141					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.R141W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGATGAGATCCGGGACAAATG	0.597																																																1	Substitution - Missense(1)	kidney(1)											115	100	105					6																	44107217		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.421C>T	6.37:g.44107217C>T	ENSP00000259746:p.Arg141Trp		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705917	0.30232	.	.	ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267	T;T;T	0.42131	0.98;0.98;0.98	4.53	3.56	0.40772	.	0.067218	0.56097	D	0.000021	T	0.34193	0.0889	L	0.53249	1.67	0.35526	D	0.801822	P;D;D	0.71674	0.92;0.989;0.998	B;P;P	0.53861	0.443;0.67;0.736	T	0.13953	-1.0490	10	0.38643	T	0.18	.	8.3299	0.32180	0.0:0.809:0.0:0.191	.	141;141;141	Q5T3F8-3;Q5T3F8;Q5T3F8-2	.;TM63B_HUMAN;.	W	141	ENSP00000259746:R141W;ENSP00000437163:R141W;ENSP00000327154:R141W	ENSP00000259746:R141W	R	+	1	2	TMEM63B	44215195	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	1.760000	0.38430	2.356000	0.79943	0.561000	0.74099	CGG		0.597	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		T	44107217	C	T	44107217	3	4	216	1	0	0	0	0	1	0	0	0	16196	643	23	1	443	1	TMEM63B	6	44107217	Missense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08	1441132	44107217	127007850	30	13070											
EYS	346007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	66063414	66063414	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:66063414G>T	ENST00000370621.3	-	9	1922	c.1396C>A	c.(1396-1398)Cat>Aat	p.H466N	EYS_ENST00000370618.3_Missense_Mutation_p.H466N|EYS_ENST00000342421.5_Missense_Mutation_p.H466N|EYS_ENST00000370616.2_Missense_Mutation_p.H466N|EYS_ENST00000503581.1_Missense_Mutation_p.H466N|EYS_ENST00000393380.2_Missense_Mutation_p.H466N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	466					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.H466N(4)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAAATACCATGGAAGGTGACT	0.373																																																4	Substitution - Missense(4)	lung(2)|kidney(2)											115	105	109					6																	66063414		2203	4300	6503	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1396C>A	6.37:g.66063414G>T	ENSP00000359655:p.His466Asn		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	g	12.07	1.828958	0.32329	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	4.14	1.97	0.26223	.	.	.	.	.	T	0.42539	0.1207	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.001;0.003;0.004	T	0.31280	-0.9949	9	0.10377	T	0.69	.	8.6449	0.34000	0.0:0.0:0.4119:0.5881	.	466;466;466	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	466	ENSP00000424243:H466N;ENSP00000359655:H466N;ENSP00000359650:H466N;ENSP00000377042:H466N;ENSP00000341818:H466N;ENSP00000359652:H466N	ENSP00000341818:H466N	H	-	1	0	EYS	66120135	0.000000	0.05858	0.001000	0.08648	0.099000	0.18886	-0.117000	0.10708	0.685000	0.31468	0.591000	0.81541	CAT		0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		T	66063414	G	T	66063414	3	4	216	1	0	0	0	0	1	0	0	0	5334	1348	47	4	8140	4	EYS	6	66063414	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	21956197	66063414	105051653	31	13071											
PPIL4	85313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	149833352	149833352	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr6:149833352G>C	ENST00000253329.2	-	12	1198	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S	PPIL4_ENST00000340881.2_Missense_Mutation_p.P22A	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	389				T -> A (in Ref. 3; CAD97776). {ECO:0000305}.	protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.T389S(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ACAGTGATGGGTTTTCTTCTT	0.363																																																1	Substitution - Missense(1)	kidney(1)											243	228	233					6																	149833352		2203	4300	6503	SO:0001583	missense	85313				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1166C>G	6.37:g.149833352G>C	ENSP00000253329:p.Thr389Ser		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	CCDS34550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.69|12.69	2.013441|2.013441	0.35511|0.35511	.|.	.|.	ENSG00000131013|ENSG00000131013	ENST00000340881|ENST00000253329	.|T	.|0.11712	.|2.75	6.05|6.05	4.18|4.18	0.49190|0.49190	.|.	.|0.235189	.|0.48286	.|D	.|0.000194	T|T	0.01387|0.01387	0.0045|0.0045	N|N	0.14661|0.14661	0.345|0.345	0.26245|0.26245	N|N	0.978808|0.978808	.|B	.|0.26002	.|0.139	.|B	.|0.17433	.|0.018	T|T	0.44802|0.44802	-0.9304|-0.9304	6|10	0.87932|0.08179	D|T	0|0.78	.|.	7.5296|7.5296	0.27674|0.27674	0.0813:0.0:0.6738:0.2449|0.0813:0.0:0.6738:0.2449	.|.	.|389	.|Q8WUA2	.|PPIL4_HUMAN	A|S	22|389	.|ENSP00000253329:T389S	ENSP00000344128:P22A|ENSP00000253329:T389S	P|T	-|-	1|2	0|0	PPIL4|PPIL4	149875045|149875045	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.992000|0.992000	0.81027|0.81027	3.535000|3.535000	0.53575|0.53575	1.573000|1.573000	0.49748|0.49748	0.643000|0.643000	0.83706|0.83706	CCC|ACC		0.363	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			C	149833352	G	C	149833352	3	2	216	1	0	0	0	0	1	0	0	0	12334	1261	44	4	320	4	PPIL4	6	149833352	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	83769938	149833352	21281715	32	13072											
PIWIL2	55124	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	22138976	22138976	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr8:22138976G>C	ENST00000454009.2	+	4	882	c.373G>C	c.(373-375)Gtg>Ctg	p.V125L	PIWIL2_ENST00000356766.6_Missense_Mutation_p.V125L|PIWIL2_ENST00000521356.1_Missense_Mutation_p.V125L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	125					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.V125L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GGATCCAAAAGTGTTGGCGGC	0.483																																																1	Substitution - Missense(1)	kidney(1)											115	119	117					8																	22138976		2203	4300	6503	SO:0001583	missense	55124			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.373G>C	8.37:g.22138976G>C	ENSP00000406956:p.Val125Leu		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	9.018	0.984162	0.18889	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04317	3.65;3.65;3.65	5.55	2.74	0.32292	.	0.547331	0.17027	N	0.189888	T	0.03434	0.0099	N	0.24115	0.695	0.09310	N	1	B;B	0.17038	0.02;0.02	B;B	0.15870	0.014;0.014	T	0.45991	-0.9223	10	0.23891	T	0.37	.	7.4586	0.27280	0.0778:0.0:0.6261:0.2961	.	125;125	E7ECA4;Q8TC59	.;PIWL2_HUMAN	L	125	ENSP00000349208:V125L;ENSP00000428267:V125L;ENSP00000406956:V125L	ENSP00000349208:V125L	V	+	1	0	PIWIL2	22194921	0.015000	0.18098	0.029000	0.17559	0.403000	0.30841	1.411000	0.34702	0.287000	0.22375	0.561000	0.74099	GTG		0.483	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			C	22138976	G	C	22138976	3	2	216	1	0	0	0	0	1	0	0	0	11960	1029	36	4	383	4	PIWIL2	8	22138976	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08		22138976	124225046	33	13073											
CPA6	57094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	68396051	68396051	+	Missense_Mutation	SNP	G	G	T	rs375296440		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr8:68396051G>T	ENST00000297770.4	-	8	1005	c.790C>A	c.(790-792)Cgc>Agc	p.R264S	CPA6_ENST00000518549.1_Missense_Mutation_p.R264S|CPA6_ENST00000297769.4_Missense_Mutation_p.R116S	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	264						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R264S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CCACGGCAGCGAAACCTTGAG	0.423																																																1	Substitution - Missense(1)	kidney(1)											197	176	183					8																	68396051		2203	4300	6503	SO:0001583	missense	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.790C>A	8.37:g.68396051G>T	ENSP00000297770:p.Arg264Ser		Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968774	0.34754	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.27557	1.66;1.66;4.04	5.18	5.18	0.71444	Peptidase M14, carboxypeptidase A (2);	0.478710	0.24274	N	0.039962	T	0.12987	0.0315	N	0.02916	-0.46	0.43417	D	0.995566	P;P;B	0.43578	0.657;0.811;0.001	B;B;B	0.37346	0.184;0.247;0.013	T	0.15838	-1.0423	10	0.06891	T	0.86	.	17.8356	0.88696	0.0:0.0:1.0:0.0	.	264;116;264	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	S	116;264;264	ENSP00000297769:R116S;ENSP00000297770:R264S;ENSP00000431112:R264S	ENSP00000297769:R116S	R	-	1	0	CPA6	68558605	1.000000	0.71417	0.958000	0.39756	0.947000	0.59692	4.849000	0.62882	2.567000	0.86603	0.643000	0.83706	CGC		0.423	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		T	68396051	G	T	68396051	3	4	216	1	0	0	0	0	1	0	0	0	3796	1058	37	4	539	4	CPA6	8	68396051	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	46257075	68396051	77967971	34	13074											
TRPA1	8989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	72975792	72975792	+	Silent	SNP	A	A	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr8:72975792A>C	ENST00000262209.4	-	5	774	c.567T>G	c.(565-567)gcT>gcG	p.A189A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	189					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.A189A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TACATGGCTTAGCTCCTTTTT	0.383																																																1	Substitution - coding silent(1)	kidney(1)											89	86	87					8																	72975792		2203	4300	6503	SO:0001819	synonymous_variant	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.567T>G	8.37:g.72975792A>C			A6NIN6	Silent	SNP	ENST00000262209.4	37	CCDS34908.1																																																																																				0.383	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		C	72975792	A	C	72975792	2	2	216	1	0	0	0	0	0	0	0	1	16582	407	15	5		5	TRPA1	8	72975792	Silent	SNP	A	TCGA-B0-5698-01A-11D-1669-08	4579741	72975792	73388230	35	13075											
DNAI1	27019	broad.mit.edu;hgsc.bcm.edu	37	9	34490013	34490013	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr9:34490013C>T	ENST00000242317.4	+	6	563	c.392C>T	c.(391-393)tCt>tTt	p.S131F	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	131					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.S131F(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TACCAAGGTTCTCAGGAGTCT	0.498									Kartagener syndrome																																							1	Substitution - Missense(1)	kidney(1)											49	52	51					9																	34490013		2203	4300	6503	SO:0001583	missense	27019	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.392C>T	9.37:g.34490013C>T	ENSP00000242317:p.Ser131Phe		B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309793	0.60414	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.75367	1.53;-0.93	5.35	5.35	0.76521	.	0.360886	0.23975	N	0.042722	T	0.70561	0.3238	L	0.53249	1.67	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.65573	-0.6135	10	0.45353	T	0.12	.	15.2947	0.73894	0.0:1.0:0.0:0.0	.	131	Q9UI46	DNAI1_HUMAN	F	120;131;120	ENSP00000242317:S131F;ENSP00000395396:S120F	ENSP00000242317:S131F	S	+	2	0	DNAI1	34480013	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.240000	0.51368	2.894000	0.99253	0.655000	0.94253	TCT		0.498	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			T	34490013	C	T	34490013	3	4	216	1	0	0	0	0	1	0	0	0	4611	913	32	2	414	2	DNAI1	9	34490013	Missense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08		34490013	106723418	36	13076											
KIAA0649	9858	broad.mit.edu;hgsc.bcm.edu	37	9	138379621	138379621	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr9:138379621T>G	ENST00000356818.2	+	4	3814	c.3265T>G	c.(3265-3267)Ttt>Gtt	p.F1089V	PPP1R26_ENST00000605660.1_Missense_Mutation_p.F1089V|PPP1R26_ENST00000605286.1_Missense_Mutation_p.F1089V|PPP1R26_ENST00000604351.1_Missense_Mutation_p.F1089V|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.F1089V	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1089					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.F1089V(1)									GCTCTTCCACTTTGGAAAGGG	0.716																																																1	Substitution - Missense(1)	kidney(1)											4	6	5					9																	138379621		1660	3607	5267	SO:0001583	missense	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3265T>G	9.37:g.138379621T>G	ENSP00000349274:p.Phe1089Val		Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026289	0.54683	.	.	ENSG00000196422	ENST00000356818	T	0.15952	2.38	5.23	5.23	0.72850	.	0.166929	0.40818	N	0.001003	T	0.28632	0.0709	L	0.34521	1.04	0.36315	D	0.857905	D	0.76494	0.999	D	0.72982	0.979	T	0.18555	-1.0333	10	0.44086	T	0.13	-12.016	11.7866	0.52045	0.0:0.0:0.0:1.0	.	1089	Q5T8A7	PPR26_HUMAN	V	1089	ENSP00000349274:F1089V	ENSP00000349274:F1089V	F	+	1	0	KIAA0649	137519442	1.000000	0.71417	0.306000	0.25113	0.236000	0.25371	1.987000	0.40687	2.097000	0.63578	0.454000	0.30748	TTT		0.716	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		G	138379621	T	G	138379621	3	3	216	1	0	0	0	0	1	0	0	0	8189	1609	56	5	3267	5	KIAA0649	9	138379621	Missense_Mutation	SNP	T	TCGA-B0-5698-01A-11D-1669-08	103889608	138379621	2833810	37	13077											
HSPA14	51182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	14890648	14890648	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr10:14890648A>C	ENST00000378372.3	+	4	501	c.262A>C	c.(262-264)Aaa>Caa	p.K88Q		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	88					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.K88Q(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CGCGGAAAGTAAATGTTTAGT	0.318																																																1	Substitution - Missense(1)	kidney(1)											109	95	100					10																	14890648		2203	4299	6502	SO:0001583	missense	51182			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.262A>C	10.37:g.14890648A>C	ENSP00000367623:p.Lys88Gln		A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867002	0.72065	.	.	ENSG00000187522	ENST00000378372	T	0.00976	5.48	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.01661	0.0053	L	0.48986	1.54	0.80722	D	1	P	0.39535	0.677	B	0.37091	0.241	T	0.63703	-0.6577	10	0.87932	D	0	-29.3656	16.3043	0.82842	1.0:0.0:0.0:0.0	.	88	Q0VDF9	HSP7E_HUMAN	Q	88	ENSP00000367623:K88Q	ENSP00000367623:K88Q	K	+	1	0	HSPA14	14930654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.542000	0.60677	2.231000	0.72958	0.533000	0.62120	AAA		0.318	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		C	14890648	A	C	14890648	3	2	216	1	0	0	0	0	1	0	0	0	7409	363	13	5	276	5	HSPA14	10	14890648	Missense_Mutation	SNP	A	TCGA-B0-5698-01A-11D-1669-08		14890648	120644099	38	13078											
MUC6	4588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1029578	1029578	+	Silent	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr11:1029578G>A	ENST00000421673.2	-	9	1103	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	351	TIL.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.C351C(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACGGGCACGCAGGTGTGGT	0.637																																																2	Substitution - coding silent(2)	kidney(2)											54	66	62					11																	1029578		2065	4195	6260	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1053C>T	11.37:g.1029578G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.637	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1029578	G	A	1029578	2	1	216	1	0	0	0	0	0	0	0	1	9982	1079	38	1		1	MUC6	11	1029578	Silent	SNP	G	TCGA-B0-5698-01A-11D-1669-08		1029578	133976938	39	13079											
CNTN5	53942	broad.mit.edu;hgsc.bcm.edu	37	11	100226891	100226891	+	Silent	SNP	C	C	G			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr11:100226891C>G	ENST00000524871.1	+	25	3533	c.3243C>G	c.(3241-3243)tcC>tcG	p.S1081S	CNTN5_ENST00000418526.2_Silent_p.S1007S|CNTN5_ENST00000279463.3_Silent_p.S1081S|CNTN5_ENST00000528682.1_Silent_p.S1081S|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1081					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S1081S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACTCTCTCTCCACATCTTCGT	0.418																																																2	Substitution - coding silent(2)	kidney(2)											143	138	139					11																	100226891		1991	4167	6158	SO:0001819	synonymous_variant	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3243C>G	11.37:g.100226891C>G			A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	CCDS53696.1																																																																																				0.418	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		G	100226891	C	G	100226891	2	3	216	1	0	0	0	0	0	0	0	1	3646	581	21	4		4	CNTN5	11	100226891	Silent	SNP	C	TCGA-B0-5698-01A-11D-1669-08	99197313	100226891	34779625	40	13080											
PDZD3	79849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119059108	119059108	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr11:119059108G>A	ENST00000531114.1	+	6	1654	c.1105G>A	c.(1105-1107)Gct>Act	p.A369T	PDZD3_ENST00000322712.4_Missense_Mutation_p.A289T|PDZD3_ENST00000525131.1_Missense_Mutation_p.A290T|PDZD3_ENST00000392817.2_Missense_Mutation_p.A369T|PDZD3_ENST00000355547.5_Missense_Mutation_p.A303T			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	369	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)	p.A289T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		AGCCAAGAAGGCTGGGATGCA	0.647																																																1	Substitution - Missense(1)	kidney(1)											49	52	51					11																	119059108		2200	4295	6495	SO:0001583	missense	79849			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1105G>A	11.37:g.119059108G>A	ENSP00000431164:p.Ala369Thr		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.614811	0.96649	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.5	5.5	0.81552	PDZ/DHR/GLGF (4);	0.125318	0.52532	D	0.000077	T	0.63355	0.2504	M	0.88181	2.935	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.998	T	0.64253	-0.6451	10	0.32370	T	0.25	-20.4332	19.3867	0.94560	0.0:0.0:1.0:0.0	.	290;369;303;289	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	T	290;369;303;289;303;369	ENSP00000434559:A290T;ENSP00000431164:A369T;ENSP00000347742:A303T;ENSP00000327107:A289T;ENSP00000376564:A369T	ENSP00000327107:A289T	A	+	1	0	PDZD3	118564318	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	5.473000	0.66774	2.605000	0.88082	0.609000	0.83330	GCT		0.647	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		A	119059108	G	A	119059108	3	1	216	1	0	0	0	0	1	0	0	0	11704	1203	42	2	937	2	PDZD3	11	119059108	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	18832217	119059108	15947408	41	13081											
STAT2	6773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56745117	56745117	+	Silent	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:56745117G>A	ENST00000314128.4	-	9	923	c.900C>T	c.(898-900)cgC>cgT	p.R300R	STAT2_ENST00000556539.1_5'Flank|STAT2_ENST00000557235.1_Silent_p.R296R|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Silent_p.R296R			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	300					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R300R(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCTGGGCGTTGCGTAGGTCCA	0.557																																																1	Substitution - coding silent(1)	kidney(1)											227	204	212					12																	56745117		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.900C>T	12.37:g.56745117G>A			B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	ENST00000314128.4	37	CCDS8917.1																																																																																				0.557	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		A	56745117	G	A	56745117	2	1	216	1	0	0	0	0	0	0	0	1	15270	1306	46	2		2	STAT2	12	56745117	Silent	SNP	G	TCGA-B0-5698-01A-11D-1669-08		56745117	77106778	42	13082											
ZBTB39	9880	hgsc.bcm.edu;ucsc.edu	37	12	57397920	57397923	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	AGGA	AGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:57397920_57397923delAGGA	ENST00000300101.2	-	2	864_867	c.779_782delTCCT	c.(778-783)ttcctcfs	p.FL260fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTCAGGGGTGAGGAAGCTGTTTTT	0.525																																																0																																										SO:0001589	frameshift_variant	9880			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.779_782delTCCT	12.37:g.57397920_57397923delAGGA	ENSP00000300101:p.Phe260fs		A7MD38|Q9UD98	Frame_Shift_Del	DEL	ENST00000300101.2	37	CCDS31839.1																																																																																				0.525	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		-	57397923	AGGA	-	57397920	7	5	216	1	0	1	0	1	0	0	0	0	17545	304	11	0	1360	0	ZBTB39	12	57397920	Frame_Shift_Del	DEL	AGGA	TCGA-B0-5698-01A-11D-1669-08	652803	57397920	76453975	43	13083											
NXPH4	11247	hgsc.bcm.edu	37	12	57619187	57619188	+	In_Frame_Ins	INS	-	-	GGC	rs200994523	byFrequency	TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:57619187_57619188insGGC	ENST00000349394.5	+	2	759_760	c.584_585insGGC	c.(583-588)atggca>atGGCggca	p.200_201insA	Y_RNA_ENST00000365197.1_RNA|NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	200	IV (linker domain).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						CCGCTGGGGATGGCAGCAGCAG	0.752														224	0.0447284	0.1536	0.0303	5008	,	,		9599	0.0		0.0	False		,,,				2504	0.0															0										513,3443		84,345,1549						4	0.9			18	13,7857		2,9,3924	no	coding	NXPH4	NM_007224.3		86,354,5473	A1A1,A1R,RR		0.1652,12.9676,4.4478				526,11300				SO:0001652	inframe_insertion	11247			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.585_587dupGGC	12.37:g.57619188_57619190dupGGC	ENSP00000333593:p.Ala200_Ala200dup		A8K4I4|Q7Z6L3|Q8N462	In_Frame_Ins	INS	ENST00000349394.5	37	CCDS8933.1																																																																																				0.752	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		GGC	57619188	-	GGC	57619187	7	5	216	1	0	1	1	0	0	0	0	0	10795	1464	51	0	590	0	NXPH4	12	57619187	In_Frame_Ins	INS	-	TCGA-B0-5698-01A-11D-1669-08	221267	57619187	76232708	44	13084											
NAV3	89795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	78553024	78553024	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:78553024G>A	ENST00000397909.2	+	23	5000	c.4827G>A	c.(4825-4827)atG>atA	p.M1609I	NAV3_ENST00000228327.6_Missense_Mutation_p.M1609I|NAV3_ENST00000266692.7_Missense_Mutation_p.M1432I|NAV3_ENST00000536525.2_Missense_Mutation_p.M1609I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1609						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.M1609I(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAGGGAATATGACTGGCCGAT	0.398										HNSCC(70;0.22)																																						1	Substitution - Missense(1)	kidney(1)											124	115	118					12																	78553024		1860	4100	5960	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4827G>A	12.37:g.78553024G>A	ENSP00000381007:p.Met1609Ile		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.09|19.09	3.760378|3.760378	0.69763|0.69763	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|D;D;D;D;D	.|0.93859	.|-3.3;-3.3;-3.3;-3.3;-3.3	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.48767	.|U	.|0.000174	D|D	0.96266|0.96266	0.8782|0.8782	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|P;P;B;D	.|0.53745	.|0.632;0.908;0.204;0.962	.|B;D;B;D	.|0.66716	.|0.271;0.922;0.08;0.946	D|D	0.96364|0.96364	0.9268|0.9268	5|10	.|0.87932	.|D	.|0	-19.0171|-19.0171	19.6223|19.6223	0.95663|0.95663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1609;1432;1609;1609	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	N|I	504|1609;1609;1609;1432;230;238	.|ENSP00000446132:M1609I;ENSP00000381007:M1609I;ENSP00000228327:M1609I;ENSP00000266692:M1432I;ENSP00000448303:M238I	.|ENSP00000228327:M1609I	D|M	+|+	1|3	0|0	NAV3|NAV3	77077155|77077155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.063000|9.063000	0.93927|0.93927	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.398	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78553024	G	A	78553024	3	1	216	1	0	0	0	0	1	0	0	0	10187	1290	45	2	4917	2	NAV3	12	78553024	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	20933837	78553024	55298871	45	13085											
NUP37	79023	hgsc.bcm.edu;ucsc.edu	37	12	102506003	102506011	+	Splice_Site	DEL	TCTTCTTCC	TCTTCTTCC	-			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	TCTTCTTCC	TCTTCTTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:102506003_102506011delTCTTCTTCC	ENST00000552283.1	-	3	296_303	c.157_164delGGAAGAAGA	c.(157-165)ggaagaaga>a	p.GRR53del	NUP37_ENST00000251074.1_Splice_Site_p.GRR53del|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	53					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						AACGTCTGCTTCTTCTTCCTAAGCATACA	0.349																																																0																																										SO:0001630	splice_region_variant	79023			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"WD repeat domain containing"	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.157-1GGAAGAAGA>-	12.37:g.102506003_102506011delTCTTCTTCC			Q9H644	In_Frame_Del	DEL	ENST00000552283.1	37	CCDS9089.1																																																																																				0.349	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057	In_Frame_Del	-	102506011	TCTTCTTCC	-	102506003	8	5	216	1	0	1	0	1	0	0	1	0	10766	1783	62	0	848	0	NUP37	12	102506003	Splice_Site	DEL	TCTTCTTCC	TCGA-B0-5698-01A-11D-1669-08	23952979	102506003	31345892	46	13086											
TMEM132D	121256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	129558540	129558540	+	Silent	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:129558540G>T	ENST00000422113.2	-	9	3506	c.3180C>A	c.(3178-3180)ccC>ccA	p.P1060P	TMEM132D_ENST00000389441.4_Silent_p.P598P	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1060					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P1060P(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTTCCTGGTGGGGTACTCGT	0.517																																																1	Substitution - coding silent(1)	kidney(1)											155	151	153					12																	129558540		2203	4300	6503	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3180C>A	12.37:g.129558540G>T			Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																				0.517	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	129558540	G	T	129558540	2	4	216	1	0	0	0	0	0	0	0	1	16052	1335	47	4		4	TMEM132D	12	129558540	Silent	SNP	G	TCGA-B0-5698-01A-11D-1669-08	27052537	129558540	4293355	47	13087											
RIMBP2	23504	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	130935856	130935856	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:130935856C>T	ENST00000261655.4	-	5	500	c.337G>A	c.(337-339)Gcg>Acg	p.A113T	RIMBP2_ENST00000536002.1_Missense_Mutation_p.A21T|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A21T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	113					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A113T(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCACCGATCGCAGAGCTGCCT	0.552																																																1	Substitution - Missense(1)	kidney(1)											49	47	48					12																	130935856		2203	4300	6503	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.337G>A	12.37:g.130935856C>T	ENSP00000261655:p.Ala113Thr		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	7.803	0.714049	0.15306	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.19669	2.13;2.96;2.96	3.95	3.95	0.45737	.	0.694331	0.12931	N	0.427382	T	0.14960	0.0361	L	0.29908	0.895	0.20403	N	0.999901	B;B	0.27679	0.185;0.094	B;B	0.20767	0.031;0.01	T	0.13442	-1.0509	10	0.11182	T	0.66	-4.6275	14.1942	0.65659	0.0:1.0:0.0:0.0	.	21;113	O15034-2;O15034	.;RIMB2_HUMAN	T	113;21;21;21	ENSP00000261655:A113T;ENSP00000440347:A21T;ENSP00000439159:A21T	ENSP00000261655:A113T	A	-	1	0	RIMBP2	129501809	0.998000	0.40836	0.011000	0.14972	0.006000	0.05464	2.903000	0.48711	1.756000	0.51951	0.561000	0.74099	GCG		0.552	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130935856	C	T	130935856	3	4	216	1	0	0	0	0	1	0	0	0	13369	710	25	2	2881	2	RIMBP2	12	130935856	Missense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08	1377316	130935856	2916039	48	13088											
EP400	57634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	132511994	132511994	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr12:132511994G>A	ENST00000333577.4	+	27	5244	c.5135G>A	c.(5134-5136)gGc>gAc	p.G1712D	EP400_ENST00000332482.4_Missense_Mutation_p.G1639D|EP400_ENST00000330386.6_Missense_Mutation_p.G1595D|EP400_ENST00000389561.2_Missense_Mutation_p.G1676D|EP400_ENST00000389562.2_Missense_Mutation_p.G1675D			Q96L91	EP400_HUMAN	E1A binding protein p400	1712					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.G1675D(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCGTTCCGGGCCGCGTGGCG	0.557																																																1	Substitution - Missense(1)	kidney(1)											68	65	66					12																	132511994		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5135G>A	12.37:g.132511994G>A	ENSP00000333602:p.Gly1712Asp		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	8.531	0.871093	0.17322	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90004	-2.59;-2.59;-2.6;-2.59;-2.6	5.67	5.67	0.87782	.	0.317970	0.32459	N	0.006076	D	0.89308	0.6678	L	0.50333	1.59	0.19945	N	0.999944	D;D;D	0.55800	0.973;0.973;0.973	P;P;P	0.50192	0.634;0.634;0.634	T	0.82973	-0.0191	10	0.32370	T	0.25	.	16.9266	0.86178	0.0:0.0:1.0:0.0	.	1676;1595;1675	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	D	1712;1676;1675;1639;1595;1676;1595	ENSP00000333602:G1712D;ENSP00000374212:G1676D;ENSP00000374213:G1675D;ENSP00000331737:G1639D;ENSP00000330620:G1595D	ENSP00000330620:G1595D	G	+	2	0	EP400	131077947	0.997000	0.39634	0.027000	0.17364	0.043000	0.13939	5.430000	0.66501	2.697000	0.92050	0.655000	0.94253	GGC		0.557	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132511994	G	A	132511994	3	1	216	1	0	0	0	0	1	0	0	0	5151	1203	42	2	5122	2	EP400	12	132511994	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	1576138	132511994	1339901	49	13089											
ELF1	1997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41507956	41507956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr13:41507956G>A	ENST00000239882.3	-	9	1779	c.1465C>T	c.(1465-1467)Caa>Taa	p.Q489*	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Nonsense_Mutation_p.Q465*	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	489					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q489*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCCGCCTTTTGTGACTGCAGC	0.473																																																1	Substitution - Nonsense(1)	kidney(1)											134	142	139					13																	41507956		2203	4300	6503	SO:0001587	stop_gained	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1465C>T	13.37:g.41507956G>A	ENSP00000239882:p.Gln489*		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Nonsense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957830	0.92726	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	.	.	.	5.21	4.36	0.52297	.	0.257065	0.33364	N	0.004981	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.4787	0.61324	0.0758:0.0:0.9242:0.0	.	.	.	.	X	465;231;489	.	ENSP00000239882:Q489X	Q	-	1	0	ELF1	40405956	0.997000	0.39634	0.810000	0.32431	0.251000	0.25915	3.830000	0.55768	1.179000	0.42884	0.591000	0.81541	CAA		0.473	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		A	41507956	G	A	41507956	4	1	216	1	0	0	0	0	0	1	0	0	5055	1386	48	2	398	2	ELF1	13	41507956	Nonsense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08		41507956	73661922	50	13090											
SLITRK6	84189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	86370082	86370082	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr13:86370082G>T	ENST00000400286.2	-	2	1160	c.562C>A	c.(562-564)Cta>Ata	p.L188I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	188					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.L188I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CGAAGATCTAGATGGGTTAAA	0.388																																																1	Substitution - Missense(1)	kidney(1)											120	110	113					13																	86370082		1858	4086	5944	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.562C>A	13.37:g.86370082G>T	ENSP00000383143:p.Leu188Ile		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720084	0.48728	.	.	ENSG00000184564	ENST00000400286	T	0.80566	-1.39	6.17	2.56	0.30785	.	0.000000	0.64402	D	0.000002	D	0.86694	0.5994	M	0.75447	2.3	0.44635	D	0.99761	D	0.89917	1.0	D	0.87578	0.998	D	0.84859	0.0818	10	0.72032	D	0.01	-12.6229	7.2865	0.26342	0.4536:0.0:0.5464:0.0	.	188	Q9H5Y7	SLIK6_HUMAN	I	188	ENSP00000383143:L188I	ENSP00000383143:L188I	L	-	1	2	SLITRK6	85268083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.249000	0.32839	0.487000	0.27698	0.655000	0.94253	CTA		0.388	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		T	86370082	G	T	86370082	3	4	216	1	0	0	0	0	1	0	0	0	14753	933	33	4	1967	4	SLITRK6	13	86370082	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	44862126	86370082	28799796	51	13091											
NALCN	259232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	101720287	101720287	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr13:101720287C>A	ENST00000251127.6	-	39	4510	c.4429G>T	c.(4429-4431)Gtg>Ttg	p.V1477L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1477					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.V1477L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTATCATCCACCATGTTCCAT	0.388																																																1	Substitution - Missense(1)	kidney(1)											119	115	116					13																	101720287		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4429G>T	13.37:g.101720287C>A	ENSP00000251127:p.Val1477Leu		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775407	0.90108	.	.	ENSG00000102452	ENST00000251127	D	0.97731	-4.51	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	L	0.52905	1.665	0.80722	D	1	D	0.61080	0.989	P	0.58970	0.849	D	0.98100	1.0414	10	0.52906	T	0.07	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	1477	Q8IZF0	NALCN_HUMAN	L	1477	ENSP00000251127:V1477L	ENSP00000251127:V1477L	V	-	1	0	NALCN	100518288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.788000	0.95919	0.650000	0.86243	GTG		0.388	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	101720287	C	A	101720287	3	1	216	1	0	0	0	0	1	0	0	0	10150	507	18	4	811	4	NALCN	13	101720287	Missense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08	15350205	101720287	13449591	52	13092											
L2HGDH	79944	broad.mit.edu	37	14	50736035	50736035	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr14:50736035C>G	ENST00000267436.4	-	7	1149	c.752G>C	c.(751-753)cGa>cCa	p.R251P	L2HGDH_ENST00000421284.3_Missense_Mutation_p.R251P|L2HGDH_ENST00000261699.4_Missense_Mutation_p.R251P			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	251					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)	p.R251P(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATACTGACATCGAATTTCCTC	0.403																																																1	Substitution - Missense(1)	kidney(1)											104	100	101					14																	50736035		2203	4300	6503	SO:0001583	missense	79944				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.752G>C	14.37:g.50736035C>G	ENSP00000267436:p.Arg251Pro		Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698248	0.30142	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	D;D;D	0.83250	-1.7;-1.7;-1.7	4.95	-0.685	0.11328	FAD dependent oxidoreductase (1);	0.417365	0.28393	N	0.015518	T	0.75708	0.3886	L	0.59912	1.85	0.80722	D	1	B;B	0.13145	0.007;0.002	B;B	0.19666	0.026;0.016	T	0.62324	-0.6878	10	0.37606	T	0.19	-38.789	8.0623	0.30640	0.0:0.3016:0.1148:0.5836	.	251;251	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	P	251	ENSP00000261699:R251P;ENSP00000267436:R251P;ENSP00000405559:R251P	ENSP00000261699:R251P	R	-	2	0	L2HGDH	49805785	0.000000	0.05858	0.470000	0.27216	0.989000	0.77384	-0.288000	0.08377	-0.236000	0.09753	-0.145000	0.13849	CGA		0.403	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		G	50736035	C	G	50736035	3	3	216	1	0	0	0	0	1	0	0	0	8592	884	31	4	655	4	L2HGDH	14	50736035	Missense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08		50736035	56613505	53	13093											
KIAA1370	56204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52892355	52892355	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr15:52892355A>G	ENST00000261844.7	-	9	2770	c.2618T>C	c.(2617-2619)aTa>aCa	p.I873T	RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.I880T	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	873								p.I873T(1)									AAGACTTGTTATAGGTGGAGC	0.323																																																1	Substitution - Missense(1)	kidney(1)											107	103	104					15																	52892355		1807	4063	5870	SO:0001583	missense	0			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2618T>C	15.37:g.52892355A>G	ENSP00000261844:p.Ile873Thr		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	8.378	0.836758	0.16891	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.30714	1.52;1.52	5.13	5.13	0.70059	.	0.342640	0.36066	N	0.002805	T	0.19167	0.0460	N	0.22421	0.69	0.27963	N	0.936697	B;B	0.15473	0.013;0.008	B;B	0.12156	0.007;0.003	T	0.13176	-1.0519	10	0.21014	T	0.42	.	9.4781	0.38884	0.9202:0.0:0.0798:0.0	.	880;873	F5H8G0;Q32MH5	.;K1370_HUMAN	T	873;873;872;880	ENSP00000261844:I873T;ENSP00000443598:I880T	ENSP00000261844:I873T	I	-	2	0	KIAA1370	50679647	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	6.066000	0.71185	1.936000	0.56123	0.455000	0.32223	ATA		0.323	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		G	52892355	A	G	52892355	3	3	216	1	0	0	0	0	1	0	0	0	8228	449	16	3	632	3	KIAA1370	15	52892355	Missense_Mutation	SNP	A	TCGA-B0-5698-01A-11D-1669-08		52892355	49639037	54	13094											
NEO1	4756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	73585755	73585755	+	Missense_Mutation	SNP	A	A	G	rs548041199		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr15:73585755A>G	ENST00000339362.5	+	27	4214	c.3767A>G	c.(3766-3768)cAt>cGt	p.H1256R	NEO1_ENST00000560262.1_Intron|NEO1_ENST00000558964.1_Missense_Mutation_p.H1245R|NEO1_ENST00000261908.6_Missense_Mutation_p.H1256R			Q92859	NEO1_HUMAN	neogenin 1	1256					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.H1256R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CATCCCATCCATTCCCTCGAT	0.502													A|||	1	0.000199681	0.0	0.0	5008	,	,		19376	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											300	243	262					15																	73585755		2198	4297	6495	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3767A>G	15.37:g.73585755A>G	ENSP00000341198:p.His1256Arg		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.697087	0.68386	.	.	ENSG00000067141	ENST00000379842;ENST00000261908	T	0.46451	0.87	5.65	5.65	0.86999	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.63428	1.95	0.80722	D	1	P;P;D	0.63880	0.947;0.947;0.993	P;P;D	0.67900	0.893;0.893;0.954	T	0.53809	-0.8386	10	0.20519	T	0.43	-14.4154	16.1778	0.81874	1.0:0.0:0.0:0.0	.	1245;967;1256	B7ZKN0;E7EUX3;Q92859	.;.;NEO1_HUMAN	R	967;1256	ENSP00000261908:H1256R	ENSP00000261908:H1256R	H	+	2	0	NEO1	71372808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.279000	0.76181	0.533000	0.62120	CAT		0.502	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		G	73585755	A	G	73585755	3	3	216	1	0	0	0	0	1	0	0	0	10338	217	8	3	3869	3	NEO1	15	73585755	Missense_Mutation	SNP	A	TCGA-B0-5698-01A-11D-1669-08	20693400	73585755	28945637	55	13095											
XPO6	23214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28115915	28115915	+	Silent	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr16:28115915G>T	ENST00000304658.5	-	21	3398	c.2898C>A	c.(2896-2898)atC>atA	p.I966I	XPO6_ENST00000565698.1_Silent_p.I952I	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	966					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.I966I(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GCTCCTCAGCGATCCCCCTCT	0.577																																																2	Substitution - coding silent(2)	kidney(2)											72	76	75					16																	28115915		2065	4206	6271	SO:0001819	synonymous_variant	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2898C>A	16.37:g.28115915G>T			A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	CCDS42135.1																																																																																				0.577	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		T	28115915	G	T	28115915	2	4	216	1	0	0	0	0	0	0	0	1	17453	1048	37	4		4	XPO6	16	28115915	Silent	SNP	G	TCGA-B0-5698-01A-11D-1669-08		28115915	62238838	56	13096											
ITFG1	81533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	47493063	47493063	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr16:47493063C>A	ENST00000320640.6	-	2	460	c.232G>T	c.(232-234)Gca>Tca	p.A78S	PHKB_ENST00000323584.5_5'Flank|ITFG1_ENST00000544001.2_5'UTR|PHKB_ENST00000299167.8_5'Flank|PHKB_ENST00000455779.1_5'Flank|PHKB_ENST00000566044.1_5'Flank	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	78						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A78S(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTCTGGTCTGCCAAAAAGACG	0.264																																																1	Substitution - Missense(1)	kidney(1)											58	65	62					16																	47493063		2201	4299	6500	SO:0001583	missense	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.232G>T	16.37:g.47493063C>A	ENSP00000319918:p.Ala78Ser		Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839870	0.71488	.	.	ENSG00000129636	ENST00000320640	T	0.21361	2.01	5.14	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	L	0.55743	1.74	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.07751	-1.0756	10	0.12766	T	0.61	-20.2274	14.1095	0.65113	0.1515:0.8485:0.0:0.0	.	78	Q8TB96	TIP_HUMAN	S	78	ENSP00000319918:A78S	ENSP00000319918:A78S	A	-	1	0	ITFG1	46050564	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.046000	0.71029	1.141000	0.42275	0.655000	0.94253	GCA		0.264	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		A	47493063	C	A	47493063	3	1	216	1	0	0	0	0	1	0	0	0	7871	739	26	4	1674	4	ITFG1	16	47493063	Missense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08	19377148	47493063	42861690	57	13097											
FTSJD1	55783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71318530	71318530	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr16:71318530T>C	ENST00000338099.5	-	3	1630	c.1294A>G	c.(1294-1296)Aaa>Gaa	p.K432E	CMTR2_ENST00000434935.2_Missense_Mutation_p.K432E			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	432					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.K432E(1)									CCAAACCATTTTGTATTTGTA	0.294																																																1	Substitution - Missense(1)	kidney(1)											42	44	43					16																	71318530		2197	4293	6490	SO:0001583	missense	55783			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1294A>G	16.37:g.71318530T>C	ENSP00000337512:p.Lys432Glu		B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.940822	0.34283	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.15603	2.41;2.41	5.95	5.95	0.96441	.	0.059424	0.64402	D	0.000002	T	0.29355	0.0731	L	0.50333	1.59	0.43338	D	0.99538	D	0.62365	0.991	P	0.55923	0.787	T	0.01294	-1.1393	10	0.23891	T	0.37	-23.1304	15.5864	0.76485	0.0:0.0:0.0:1.0	.	432	Q8IYT2	FTSJ1_HUMAN	E	432	ENSP00000337512:K432E;ENSP00000411148:K432E	ENSP00000337512:K432E	K	-	1	0	FTSJD1	69876031	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.366000	0.59492	2.279000	0.76181	0.402000	0.26972	AAA		0.294	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		C	71318530	T	C	71318530	3	2	216	1	0	0	0	0	1	0	0	0	6092	1850	64	3	1022	3	FTSJD1	16	71318530	Missense_Mutation	SNP	T	TCGA-B0-5698-01A-11D-1669-08	23825467	71318530	19036223	58	13098											
ARHGEF15	22899	hgsc.bcm.edu;ucsc.edu	37	17	8216256	8216256	+	Frame_Shift_Del	DEL	C	C	-	rs138521691	byFrequency	TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr17:8216256delC	ENST00000361926.3	+	3	728	c.618delC	c.(616-618)tgcfs	p.C206fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Del_p.C206fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	206					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCCTGGCCTGCCCTCCCTGCT	0.672																																																0													78	95	89					17																	8216256		2200	4291	6491	SO:0001589	frameshift_variant	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.618delC	17.37:g.8216256delC	ENSP00000355026:p.Cys206fs		A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Del	DEL	ENST00000361926.3	37	CCDS11139.1																																																																																				0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		-	8216256	C	-	8216256	7	5	216	1	0	1	0	1	0	0	0	0	898	747	26	0	624	0	ARHGEF15	17	8216256	Frame_Shift_Del	DEL	C	TCGA-B0-5698-01A-11D-1669-08		8216256	72978954	59	13099											
TMIGD1	388364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	28659092	28659092	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr17:28659092T>G	ENST00000328886.4	-	2	132	c.60A>C	c.(58-60)ttA>ttC	p.L20F	TMIGD1_ENST00000538566.2_Missense_Mutation_p.L20F	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	20						integral component of membrane (GO:0016021)		p.L20F(1)		breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GTGGCAGAAATAAAATTACTA	0.333																																																1	Substitution - Missense(1)	kidney(1)											87	83	84					17																	28659092		2202	4300	6502	SO:0001583	missense	388364			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.60A>C	17.37:g.28659092T>G	ENSP00000332404:p.Leu20Phe		A8K2K1|Q6ZMC6	Missense_Mutation	SNP	ENST00000328886.4	37	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325708	0.41197	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.66638	-0.22;-0.14	6.01	-0.686	0.11324	.	0.703612	0.13574	N	0.377879	T	0.49932	0.1586	L	0.59436	1.845	0.32486	N	0.540869	B;B	0.22683	0.073;0.034	B;B	0.25884	0.064;0.019	T	0.43261	-0.9402	10	0.08599	T	0.76	0.0504	0.4799	0.00546	0.27:0.1622:0.1398:0.428	.	20;20	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	F	20	ENSP00000332404:L20F;ENSP00000446118:L20F	ENSP00000332404:L20F	L	-	3	2	TMIGD1	25683218	0.872000	0.30054	0.791000	0.31998	0.874000	0.50279	-0.316000	0.08071	-0.427000	0.07350	-0.353000	0.07706	TTA		0.333	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		G	28659092	T	G	28659092	3	3	216	1	0	0	0	0	1	0	0	0	16235	1403	49	5	752	5	TMIGD1	17	28659092	Missense_Mutation	SNP	T	TCGA-B0-5698-01A-11D-1669-08	20442836	28659092	52536118	60	13100											
ATP6V0A1	535	broad.mit.edu	37	17	40647651	40647651	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr17:40647651A>T	ENST00000343619.4	+	14	1600	c.1477A>T	c.(1477-1479)Acg>Tcg	p.T493S	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.T493S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.T450S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.T500S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.T493S|MIR548AT_ENST00000578714.1_RNA|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.T450S|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.T139S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	493					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.T493S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TAGTGAAGAGACGCTTCGGGG	0.468																																																1	Substitution - Missense(1)	kidney(1)											76	62	67					17																	40647651		2203	4300	6503	SO:0001583	missense	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1477A>T	17.37:g.40647651A>T	ENSP00000342951:p.Thr493Ser		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.701934	0.30232	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.88431	-2.07;-2.07;-2.06;-2.06;-2.02;-2.38	6.07	4.98	0.66077	.	0.303364	0.40222	N	0.001159	T	0.82033	0.4949	L	0.37630	1.12	0.30025	N	0.813961	B;B;B;B;B	0.30211	0.146;0.075;0.155;0.273;0.053	B;B;B;B;B	0.37943	0.099;0.201;0.261;0.111;0.06	T	0.72507	-0.4272	10	0.21014	T	0.42	-16.9064	3.2879	0.06939	0.579:0.2221:0.0718:0.127	.	450;450;500;493;493	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	S	493;493;493;500;450;139	ENSP00000342951:T493S;ENSP00000444676:T493S;ENSP00000377415:T493S;ENSP00000264649:T500S;ENSP00000443991:T450S;ENSP00000446377:T139S	ENSP00000264649:T500S	T	+	1	0	ATP6V0A1	37901177	0.002000	0.14202	0.615000	0.29064	0.387000	0.30353	0.693000	0.25497	2.326000	0.78906	0.533000	0.62120	ACG		0.468	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		T	40647651	A	T	40647651	3	4	216	1	0	0	0	0	1	0	0	0	1168	275	10	5	1548	5	ATP6V0A1	17	40647651	Missense_Mutation	SNP	A	TCGA-B0-5698-01A-11D-1669-08	11988559	40647651	40547559	61	13101											
NFE2L1	4779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46134732	46134732	+	Silent	SNP	A	A	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr17:46134732A>T	ENST00000362042.3	+	5	1456	c.840A>T	c.(838-840)acA>acT	p.T280T	NFE2L1_ENST00000357480.5_Silent_p.T250T|NFE2L1_ENST00000585291.1_Silent_p.T250T|NFE2L1_ENST00000361665.3_Silent_p.T269T|NFE2L1_ENST00000536222.1_Silent_p.T124T|NFE2L1_ENST00000583378.1_Silent_p.T81T|NFE2L1_ENST00000582155.1_Silent_p.T92T	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	280	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.T280T(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAGCATAACAGAAGCAGTGC	0.488																																																1	Substitution - coding silent(1)	kidney(1)											171	158	162					17																	46134732		2203	4300	6503	SO:0001819	synonymous_variant	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.840A>T	17.37:g.46134732A>T			D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	CCDS11524.1																																																																																				0.488	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		T	46134732	A	T	46134732	2	4	216	1	0	0	0	0	0	0	0	1	10369	175	7	5		5	NFE2L1	17	46134732	Silent	SNP	A	TCGA-B0-5698-01A-11D-1669-08	5487081	46134732	35060478	62	13102											
CTDP1	9150	broad.mit.edu;hgsc.bcm.edu	37	18	77475251	77475251	+	Silent	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr18:77475251G>C	ENST00000299543.7	+	8	1938	c.1791G>C	c.(1789-1791)ctG>ctC	p.L597L	CTDP1_ENST00000075430.7_Silent_p.L597L	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	597					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.L597L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGGAGATCCTGGTCCGTGTAC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											84	66	72					18																	77475251		2203	4300	6503	SO:0001819	synonymous_variant	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1791G>C	18.37:g.77475251G>C			A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	CCDS12017.1																																																																																				0.592	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		C	77475251	G	C	77475251	2	2	216	1	0	0	0	0	0	0	0	1	4004	1335	47	4		4	CTDP1	18	77475251	Silent	SNP	G	TCGA-B0-5698-01A-11D-1669-08		77475251	601997	63	13103											
DAZAP1	26528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1433802	1433802	+	Intron	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:1433802C>T	ENST00000233078.4	+	12	1209				DAZAP1_ENST00000336761.6_Silent_p.V371V	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1						cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)	p.V371V(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTATGGTCAGGCTGAGCA	0.642																																																1	Substitution - coding silent(1)	kidney(1)											129	109	116					19																	1433802		2203	4300	6503	SO:0001627	intron_variant	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1049-934C>T	19.37:g.1433802C>T			Q96MJ3|Q9NRR9	Silent	SNP	ENST00000233078.4	37	CCDS12065.1																																																																																				0.642	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		T	1433802	C	T	1433802	1	4	216	0	1	0	0	0	0	0	0	0	4246	813	29	2		2	DAZAP1	19	1433802	Intron	SNP	C	TCGA-B0-5698-01A-11D-1669-08		1433802	57695181	64	13104											
PIP5K1C	23396	broad.mit.edu	37	19	3651997	3651997	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:3651997G>T	ENST00000335312.3	-	8	1042	c.954C>A	c.(952-954)agC>agA	p.S318R	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.S318R|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.S318R|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.S318R	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	318	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.S318R(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CCAGCAGCAGGCTGTAGTCCA	0.657																																					Esophageal Squamous(135;99 1744 12852 27186 39851)											1	Substitution - Missense(1)	kidney(1)											42	44	43					19																	3651997		2202	4299	6501	SO:0001583	missense	23396			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.954C>A	19.37:g.3651997G>T	ENSP00000335333:p.Ser318Arg		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406948	0.42715	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.75704	-0.96;-0.96;-0.96	4.37	4.37	0.52481	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.043354	0.85682	D	0.000000	D	0.90089	0.6904	H	0.98155	4.16	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.91872	0.5508	10	0.87932	D	0	-31.4329	9.7074	0.40225	0.0969:0.0:0.9031:0.0	.	318;318	O60331-3;O60331	.;PI51C_HUMAN	R	318	ENSP00000335333:S318R;ENSP00000445992:S318R;ENSP00000444779:S318R	ENSP00000335333:S318R	S	-	3	2	PIP5K1C	3602997	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	3.436000	0.52856	1.974000	0.57490	0.491000	0.48974	AGC		0.657	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		T	3651997	G	T	3651997	3	4	216	1	0	0	0	0	1	0	0	0	11943	1194	42	4	1096	4	PIP5K1C	19	3651997	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	2218195	3651997	55476986	65	13105											
OR10H4	126541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	16059970	16059970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:16059970G>A	ENST00000322107.1	+	1	153	c.153G>A	c.(151-153)tgG>tgA	p.W51*		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W51*(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCACAATCTGGATTGAACACA	0.542																																																1	Substitution - Nonsense(1)	kidney(1)											362	333	343					19																	16059970		2203	4300	6503	SO:0001587	stop_gained	126541			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.153G>A	19.37:g.16059970G>A	ENSP00000318834:p.Trp51*		Q6IFJ2|Q96R57	Nonsense_Mutation	SNP	ENST00000322107.1	37	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	g	5.259	0.233229	0.09969	.	.	ENSG00000176231	ENST00000322107	.	.	.	1.53	0.441	0.16577	.	0.444758	0.16799	U	0.199069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	3.2891	0.06943	0.4764:0.0:0.5236:0.0	.	.	.	.	X	51	.	ENSP00000318834:W51X	W	+	3	0	OR10H4	15920970	0.000000	0.05858	0.022000	0.16811	0.038000	0.13279	-0.969000	0.03813	0.828000	0.34709	0.471000	0.43371	TGG		0.542	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			A	16059970	G	A	16059970	4	1	216	1	0	0	0	0	0	1	0	0	10910	1183	41	2	155	2	OR10H4	19	16059970	Nonsense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	12407973	16059970	43069013	66	13106											
FAM125A	93343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17533164	17533164	+	Missense_Mutation	SNP	C	C	T	rs146357246		TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:17533164C>T	ENST00000317040.7	+	4	1365	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000392702.2_Missense_Mutation_p.R104C|MVB12A_ENST00000528515.1_Intron|MVB12A_ENST00000529939.1_Missense_Mutation_p.R104C|CTD-2521M24.8_ENST00000597028.1_RNA|MVB12A_ENST00000543795.1_Missense_Mutation_p.R104C			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	104	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)	p.R104C(1)									CAAGAAGAAACGCATGTGTGT	0.582																																																1	Substitution - Missense(1)	kidney(1)						C	CYS/ARG	0,4406		0,0,2203	122	108	113		310	1.8	0.7	19	dbSNP_134	113	1,8599		0,1,4299	no	missense	FAM125A	NM_138401.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	104/274	17533164	1,13005	2203	4300	6503	SO:0001583	missense	0			BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"family with sequence similarity 125, member A"	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.310C>T	19.37:g.17533164C>T	ENSP00000324810:p.Arg104Cys		Q96I18	Missense_Mutation	SNP	ENST00000317040.7	37	CCDS12359.1	.	.	.	.	.	.	.	.	.	.	.	12.57	1.978515	0.34942	0.0	1.16E-4	ENSG00000141971	ENST00000528911;ENST00000317040;ENST00000392702;ENST00000529939;ENST00000543795	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.3	1.77	0.24775	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.71581	2.175	0.47949	D	0.999559	D	0.89917	1.0	D	0.91635	0.999	T	0.59418	-0.7458	10	0.72032	D	0.01	-4.1367	5.565	0.17165	0.3513:0.5559:0.0:0.0927	.	104	Q96EY5	F125A_HUMAN	C	12;104;104;104;104	ENSP00000433280:R12C;ENSP00000324810:R104C;ENSP00000376466:R104C;ENSP00000432526:R104C;ENSP00000444653:R104C	ENSP00000324810:R104C	R	+	1	0	FAM125A	17394164	0.920000	0.31207	0.739000	0.30968	0.044000	0.14063	1.292000	0.33342	0.616000	0.30141	-1.077000	0.02231	CGC		0.582	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401		T	17533164	C	T	17533164	3	4	216	1	0	0	0	0	1	0	0	0	5429	536	19	1	324	1	FAM125A	19	17533164	Missense_Mutation	SNP	C	TCGA-B0-5698-01A-11D-1669-08	1473194	17533164	41595819	67	13107											
SHKBP1	92799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41094601	41094601	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:41094601G>A	ENST00000291842.5	+	14	1457	c.1408G>A	c.(1408-1410)Ggc>Agc	p.G470S	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Missense_Mutation_p.G445S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	470					protein homooligomerization (GO:0051260)			p.G470S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCCAGCCCGGCTCCACCCC	0.602																																																1	Substitution - Missense(1)	kidney(1)											121	112	115					19																	41094601		2203	4300	6503	SO:0001583	missense	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1408G>A	19.37:g.41094601G>A	ENSP00000291842:p.Gly470Ser		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535411	0.85812	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.62639	0.01	4.21	3.17	0.36434	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	M	0.78916	2.43	0.80722	D	1	D;D;D;P;D;D	0.89917	1.0;1.0;1.0;0.868;1.0;0.957	D;D;D;B;D;B	0.97110	0.986;1.0;0.999;0.354;0.999;0.308	T	0.78505	-0.2178	10	0.66056	D	0.02	-2.7325	11.1437	0.48417	0.0927:0.0:0.9073:0.0	.	348;250;393;307;470;470	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	S	470;250	ENSP00000291842:G470S	ENSP00000291842:G470S	G	+	1	0	SHKBP1	45786441	1.000000	0.71417	0.762000	0.31397	0.861000	0.49209	9.141000	0.94612	0.989000	0.38761	0.462000	0.41574	GGC		0.602	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		A	41094601	G	A	41094601	3	1	216	1	0	0	0	0	1	0	0	0	14290	1116	39	1	1462	1	SHKBP1	19	41094601	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08	23561437	41094601	18034382	68	13108											
LTBP4	8425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41120306	41120306	+	Silent	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr19:41120306G>A	ENST00000308370.7	+	22	2967	c.2967G>A	c.(2965-2967)cgG>cgA	p.R989R	LTBP4_ENST00000396819.3_Silent_p.R922R|LTBP4_ENST00000204005.9_Silent_p.R952R|LTBP4_ENST00000545697.1_Silent_p.R442R|LTBP4_ENST00000243562.9_Silent_p.R87R|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	989	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.R989R(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGTGTCCGGGACTGCGATC	0.692																																																1	Substitution - coding silent(1)	kidney(1)											22	27	25					19																	41120306		1987	4155	6142	SO:0001819	synonymous_variant	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2967G>A	19.37:g.41120306G>A			O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37																																																																																					0.692	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		A	41120306	G	A	41120306	2	1	216	1	0	0	0	0	0	0	0	1	9078	1219	43	2		2	LTBP4	19	41120306	Silent	SNP	G	TCGA-B0-5698-01A-11D-1669-08	25705	41120306	18008677	69	13109											
ZNF341	84905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	32377331	32377331	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr20:32377331A>C	ENST00000375200.1	+	14	2337	c.1972A>C	c.(1972-1974)Aca>Cca	p.T658P	RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.T651P|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T651P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TAGGACGCACACAGGCTGCAG	0.592																																																1	Substitution - Missense(1)	kidney(1)											97	83	88					20																	32377331		2203	4300	6503	SO:0001583	missense	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1972A>C	20.37:g.32377331A>C	ENSP00000364346:p.Thr658Pro		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37		.	.	.	.	.	.	.	.	.	.	A	20.7	4.033397	0.75504	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.68479	-0.33;-0.33	5.29	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.187070	0.47455	D	0.000236	T	0.68586	0.3017	L	0.41415	1.275	0.44247	D	0.997092	D;P;P;P	0.58970	0.984;0.939;0.939;0.925	P;P;P;P	0.56514	0.8;0.697;0.625;0.491	T	0.71358	-0.4617	10	0.62326	D	0.03	-16.2984	11.6868	0.51492	0.9269:0.0:0.0731:0.0	.	599;510;658;651	Q504V9;B3KU97;Q9BYN7;Q9BYN7-2	.;.;ZN341_HUMAN;.	P	651;658	ENSP00000344308:T651P;ENSP00000364346:T658P	ENSP00000344308:T651P	T	+	1	0	ZNF341	31840992	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	4.931000	0.63469	2.141000	0.66446	0.454000	0.30748	ACA		0.592	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				C	32377331	A	C	32377331	3	2	216	1	0	0	0	0	1	0	0	0	17862	159	6	5	2005	5	ZNF341	20	32377331	Missense_Mutation	SNP	A	TCGA-B0-5698-01A-11D-1669-08		32377331	30648189	70	13110											
SIK1	150094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	44840177	44840177	+	Silent	SNP	G	G	A			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr21:44840177G>A	ENST00000270162.6	-	8	1041	c.909C>T	c.(907-909)gaC>gaT	p.D303D		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	303	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.D303D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GCTCATCGTAGTCGCCCAGGT	0.692																																																1	Substitution - coding silent(1)	kidney(1)											51	49	50					21																	44840177		2203	4300	6503	SO:0001819	synonymous_variant	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.909C>T	21.37:g.44840177G>A			A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	CCDS33575.1																																																																																				0.692	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		A	44840177	G	A	44840177	2	1	216	1	0	0	0	0	0	0	0	1	14323	1020	36	2		2	SIK1	21	44840177	Silent	SNP	G	TCGA-B0-5698-01A-11D-1669-08		44840177	3289718	71	13111											
CLTCL1	8218	broad.mit.edu;hgsc.bcm.edu	37	22	19210260	19210260	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr22:19210260G>C	ENST00000263200.10	-	15	2437	c.2365C>G	c.(2365-2367)Cta>Gta	p.L789V	CLTCL1_ENST00000353891.5_Missense_Mutation_p.L789V|CLTCL1_ENST00000427926.1_Missense_Mutation_p.L789V	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	789	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.L789V(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TATAAATATAGGACAAGGTCA	0.527			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	1	Substitution - Missense(1)	kidney(1)											99	104	103					22																	19210260		2076	4203	6279	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2365C>G	22.37:g.19210260G>C	ENSP00000445677:p.Leu789Val		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417644	0.25552	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.19250	2.16;2.16;2.16	3.89	-0.721	0.11189	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000008	T	0.43567	0.1253	M	0.87180	2.865	0.53005	D	0.999967	P;D	0.71674	0.851;0.998	P;D	0.91635	0.702;0.999	T	0.27971	-1.0058	10	0.36615	T	0.2	-8.0011	8.5817	0.33632	0.3227:0.0:0.6773:0.0	.	789;789	P53675-2;P53675	.;CLH2_HUMAN	V	789	ENSP00000439662:L789V;ENSP00000445677:L789V;ENSP00000441158:L789V	ENSP00000445677:L789V	L	-	1	2	CLTCL1	17590260	1.000000	0.71417	0.035000	0.18076	0.012000	0.07955	4.801000	0.62532	-0.231000	0.09825	-0.379000	0.06801	CTA		0.527	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		C	19210260	G	C	19210260	3	2	216	1	0	0	0	0	1	0	0	0	3569	991	35	4	2629	4	CLTCL1	22	19210260	Missense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08		19210260	32094306	72	13112											
MAPK12	6300	broad.mit.edu;hgsc.bcm.edu	37	22	50695076	50695076	+	Splice_Site	SNP	C	C	T			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chr22:50695076C>T	ENST00000215659.8	-	6	772		c.e6-1		MAPK12_ENST00000497036.1_Splice_Site|MAPK12_ENST00000395780.1_Splice_Site	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12						cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCTTCAGGTCCTGGGGGCAGA	0.672																																																2	Unknown(2)	kidney(2)											67	72	70					22																	50695076		2203	4300	6503	SO:0001630	splice_region_variant	6300			U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.457-1G>A	22.37:g.50695076C>T			Q14260|Q6IC53|Q99588|Q99672	Splice_Site	SNP	ENST00000215659.8	37	CCDS14089.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977565	0.74360	.	.	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7618	0.85514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAPK12	49037203	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	7.006000	0.76329	2.193000	0.70182	0.478000	0.44815	.		0.672	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969	Intron	T	50695076	C	T	50695076	5	4	216	1	0	0	0	0	0	0	1	0	9276	695	24	2	675	2	MAPK12	22	50695076	Splice_Site	SNP	C	TCGA-B0-5698-01A-11D-1669-08	31484816	50695076	609490	73	13113											
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu	37	X	53224222	53224222	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-5698-01A-11D-1669-08	TCGA-B0-5698-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ddf2fa6-7871-49fb-be2c-8fce6f8e41ed	7f4d9a43-84db-47f3-b579-2ff98bd05afb	g.chrX:53224222G>C	ENST00000375401.3	-	22	3861	c.3329C>G	c.(3328-3330)tCa>tGa	p.S1110*	KDM5C_ENST00000375383.3_Nonsense_Mutation_p.S1069*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.S1109*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.S1110*|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.S1043*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1110					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.S1043*(1)|p.S1110*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGTGCTGTCTGAGCCGGCATC	0.622			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Nonsense(2)	kidney(2)											50	37	41					X																	53224222		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3329C>G	X.37:g.53224222G>C	ENSP00000364550:p.Ser1110*		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	g	44	10.928661	0.99490	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	4.78	4.78	0.61160	.	0.300123	0.32430	N	0.006105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-4.082	14.4026	0.67060	0.0:0.0:1.0:0.0	.	.	.	.	X	1043;1110;1109;1110;1069	.	ENSP00000364528:S1110X	S	-	2	0	KDM5C	53240947	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.913000	0.48790	1.976000	0.57569	0.525000	0.51046	TCA		0.622	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		C	53224222	G	C	53224222	4	2	216	1	0	0	0	0	0	1	0	0	8137	1294	45	4	1471	4	KDM5C	23	53224222	Nonsense_Mutation	SNP	G	TCGA-B0-5698-01A-11D-1669-08		53224222	102046338	74	13114											
GJB3	2707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35250612	35250612	+	Silent	SNP	C	C	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr1:35250612C>T	ENST00000373366.2	+	2	864	c.249C>T	c.(247-249)ttC>ttT	p.F83F	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Silent_p.F83F	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	83					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.F83F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGCTCATCTTCGTCACATGCC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											139	115	123					1																	35250612		2203	4300	6503	SO:0001819	synonymous_variant	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.249C>T	1.37:g.35250612C>T			B2R790|Q2TAZ8	Silent	SNP	ENST00000373366.2	37	CCDS384.1																																																																																				0.627	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		T	35250612	C	T	35250612	2	4	217	1	0	0	0	0	0	0	0	1	6411	883	31	1		1	GJB3	1	35250612	Silent	SNP	C	TCGA-B0-5699-01A-11D-1534-10		35250612	214000009	1	13115											
COL9A2	1298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40777353	40777353	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr1:40777353G>A	ENST00000372748.3	-	9	548	c.452C>T	c.(451-453)cCa>cTa	p.P151L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	151	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P151L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGGGGGTCCTGGGGGCCCCGA	0.612																																																1	Substitution - Missense(1)	kidney(1)											44	55	51					1																	40777353		2201	4295	6496	SO:0001583	missense	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.452C>T	1.37:g.40777353G>A	ENSP00000361834:p.Pro151Leu		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.250370	0.39797	.	.	ENSG00000049089	ENST00000372748;ENST00000372736	D;D	0.96885	-4.16;-3.21	5.93	5.93	0.95920	.	0.109289	0.64402	D	0.000006	D	0.97986	0.9337	M	0.88979	2.995	0.80722	D	1	D	0.64830	0.994	P	0.59825	0.864	D	0.98029	1.0375	10	0.52906	T	0.07	.	15.8313	0.78752	0.0:0.0:1.0:0.0	.	151	Q14055	CO9A2_HUMAN	L	151;80	ENSP00000361834:P151L;ENSP00000361821:P80L	ENSP00000361821:P80L	P	-	2	0	COL9A2	40549940	1.000000	0.71417	0.963000	0.40424	0.002000	0.02628	7.956000	0.87863	2.797000	0.96272	0.655000	0.94253	CCA		0.612	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		A	40777353	G	A	40777353	3	1	217	1	0	0	0	0	1	0	0	0	3710	1348	47	2	1713	2	COL9A2	1	40777353	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10	5526741	40777353	208473268	2	13116											
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu	37	1	144922040	144922040	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr1:144922040T>C	ENST00000369354.3	-	9	1178	c.989A>G	c.(988-990)gAg>gGg	p.E330G	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E493G|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E330G|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E330G|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E396G|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.E493G|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E117G|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E330G|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E467G|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E467G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	330					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E330G(2)|p.E493G(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGAAGTACCCTCTGAGCTCTG	0.453			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	3	Substitution - Missense(3)	kidney(3)											112	122	119					1																	144922040		2203	4298	6501	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.989A>G	1.37:g.144922040T>C	ENSP00000358360:p.Glu330Gly		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.719835	0.30503	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.19105	4.21;4.22;4.18;4.3;4.29;3.3;3.31;2.29;2.3;2.17	5.82	4.68	0.58851	.	.	.	.	.	T	0.26557	0.0649	M	0.69823	2.125	0.31018	N	0.718435	P;B;D;D;P	0.61697	0.649;0.015;0.957;0.99;0.653	B;B;P;P;B	0.59288	0.398;0.012;0.619;0.855;0.219	T	0.15578	-1.0432	9	0.87932	D	0	.	11.3377	0.49513	0.0:0.0:0.1525:0.8475	.	493;330;493;396;330	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	G	396;330;330;493;467;467;330;330;493;493;117	ENSP00000327209:E396G;ENSP00000358360:E330G;ENSP00000358363:E330G;ENSP00000435654:E467G;ENSP00000358366:E467G;ENSP00000358357:E330G;ENSP00000358355:E330G;ENSP00000316434:E493G;ENSP00000433392:E493G;ENSP00000436791:E117G	ENSP00000327209:E396G	E	-	2	0	PDE4DIP	143633397	0.990000	0.36364	0.013000	0.15412	0.066000	0.16364	4.068000	0.57534	1.007000	0.39238	0.528000	0.53228	GAG		0.453	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		C	144922040	T	C	144922040	3	2	217	1	0	0	0	0	1	0	0	0	11645	1551	54	3	6205	3	PDE4DIP	1	144922040	Missense_Mutation	SNP	T	TCGA-B0-5699-01A-11D-1534-10	104144687	144922040	104328581	3	13117											
DCST1	149095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155006934	155006934	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr1:155006934G>T	ENST00000295542.1	+	3	181	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	DCST1_ENST00000392480.1_Missense_Mutation_p.G29W|DCST2_ENST00000368424.3_5'Flank|DCST1_ENST00000368419.2_Missense_Mutation_p.G29W|DCST2_ENST00000295536.5_5'Flank|DCST1_ENST00000423025.2_Missense_Mutation_p.G29W	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	29						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G29W(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTGACCTGGGGGCTGCCAGT	0.652																																																1	Substitution - Missense(1)	kidney(1)											75	87	83					1																	155006934		2203	4300	6503	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.85G>T	1.37:g.155006934G>T	ENSP00000295542:p.Gly29Trp		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644555	0.67358	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.24908	1.93;1.9;1.83;1.9	5.18	4.25	0.50352	.	1.145510	0.06480	N	0.732778	T	0.22627	0.0546	L	0.51422	1.61	0.29989	N	0.817007	D;D;D	0.71674	0.993;0.998;0.993	P;P;P	0.53185	0.628;0.72;0.628	T	0.08289	-1.0729	10	0.62326	D	0.03	-21.7886	10.1202	0.42616	0.0951:0.0:0.9049:0.0	.	29;54;29	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	W	29	ENSP00000295542:G29W;ENSP00000376271:G29W;ENSP00000387369:G29W;ENSP00000357404:G29W	ENSP00000295542:G29W	G	+	1	0	DCST1	153273558	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.461000	0.21940	1.154000	0.42482	0.655000	0.94253	GGG		0.652	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		T	155006934	G	T	155006934	3	4	217	1	0	0	0	0	1	0	0	0	4304	1232	43	4	91	4	DCST1	1	155006934	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10	10084894	155006934	94243687	4	13118											
EHBP1	23301	broad.mit.edu;ucsc.edu	37	2	62934347	62934347	+	Silent	SNP	A	A	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr2:62934347A>G	ENST00000263991.5	+	2	503	c.21A>G	c.(19-21)agA>agG	p.R7R	EHBP1_ENST00000405289.1_Silent_p.R7R|EHBP1_ENST00000431489.1_Silent_p.R7R|EHBP1_ENST00000354487.3_Silent_p.R7R|EHBP1_ENST00000405015.3_Silent_p.R7R	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	7						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R7R(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTTGGAAGAGACTGCAGCGTG	0.473																																																1	Substitution - coding silent(1)	kidney(1)											166	156	159					2																	62934347		2203	4300	6503	SO:0001819	synonymous_variant	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.21A>G	2.37:g.62934347A>G			O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	CCDS1872.1																																																																																				0.473	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		G	62934347	A	G	62934347	2	3	217	1	0	0	0	0	0	0	0	1	4977	272	10	3		3	EHBP1	2	62934347	Silent	SNP	A	TCGA-B0-5699-01A-11D-1534-10		62934347	180265026	5	13119											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47164498	47164498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr3:47164498G>T	ENST00000409792.3	-	3	1670	c.1628C>A	c.(1627-1629)tCa>tAa	p.S543*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	543					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.S40*(1)|p.S543*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGAATATGATGACCCTCGTCG	0.348			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											105	106	106					3																	47164498		2201	4298	6499	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1628C>A	3.37:g.47164498G>T	ENSP00000386759:p.Ser543*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	33	5.201479	0.94997	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.24	4.37	0.52481	.	0.268689	0.26496	N	0.024058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0869	0.42423	0.0721:0.1364:0.7915:0.0	.	.	.	.	X	543;543;543;499	.	.	S	-	2	0	SETD2	47139502	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.671000	0.54576	1.581000	0.49865	-0.143000	0.13931	TCA		0.348	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47164498	G	T	47164498	4	4	217	1	0	0	0	0	0	1	0	0	14137	1294	45	4	6142	4	SETD2	3	47164498	Nonsense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10		47164498	150857932	6	13120											
BAP1	8314	ucsc.edu	37	3	52436362	52436362	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	T	-	T	T	Unknown	Valid	Somatic	.	WXS	PGM	.		Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr3:52436362delT	ENST00000460680.1	-	17	2603	c.2132delA	c.(2131-2133)aagfs	p.K711fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.K693fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTTCCGCTGCTTGTGGAGCCG	0.652			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													20	23	22					3																	52436362		2200	4296	6496	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2132delA	3.37:g.52436362delT	ENSP00000417132:p.Lys711fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																				0.652	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52436362	T	-	52436362	7	5	217	1	0	1	0	1	0	0	0	0	1311	1609	56	0	61	0	BAP1	3	52436362	Frame_Shift_Del	DEL	T	TCGA-B0-5699-01A-11D-1534-10	5271864	52436362	145586068	7	13121											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52649451	52649451	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr3:52649451G>C	ENST00000296302.7	-	15	1841	c.1840C>G	c.(1840-1842)Ctg>Gtg	p.L614V	PBRM1_ENST00000409767.1_Missense_Mutation_p.L629V|PBRM1_ENST00000337303.4_Missense_Mutation_p.L614V|PBRM1_ENST00000409057.1_Missense_Mutation_p.L614V|PBRM1_ENST00000356770.4_Missense_Mutation_p.L582V|PBRM1_ENST00000394830.3_Missense_Mutation_p.L614V|PBRM1_ENST00000409114.3_Missense_Mutation_p.L629V|PBRM1_ENST00000410007.1_Missense_Mutation_p.L614V			Q86U86	PB1_HUMAN	polybromo 1	614					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L614V(2)|p.L582V(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AACTTCTCCAGGATATGTGCA	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											107	98	101					3																	52649451		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1840C>G	3.37:g.52649451G>C	ENSP00000296302:p.Leu614Val		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	16.30	3.084082	0.55861	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.69	4.81	0.61882	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	L	0.34521	1.04	0.54753	D	0.999989	D;D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.967;0.996;0.987;0.997;0.999;0.995;0.995	D;D;D;D;D;D;D;D;D	0.81914	0.988;0.995;0.946;0.983;0.963;0.995;0.99;0.975;0.975	T	0.37663	-0.9696	10	0.87932	D	0	0.2985	11.3042	0.49325	0.1446:0.0:0.8554:0.0	.	614;614;614;614;629;629;614;582;614	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	V	582;614;614;614;614;614;629;629;614;573	ENSP00000349213:L582V;ENSP00000378307:L614V;ENSP00000296302:L614V;ENSP00000338302:L614V;ENSP00000386593:L614V;ENSP00000386529:L614V;ENSP00000386643:L629V;ENSP00000386601:L629V;ENSP00000387775:L614V;ENSP00000397662:L573V	ENSP00000296302:L614V	L	-	1	2	PBRM1	52624491	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.923000	0.63412	1.409000	0.46915	0.462000	0.41574	CTG		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52649451	G	C	52649451	3	2	217	1	0	0	0	0	1	0	0	0	11493	991	35	4	3124	4	PBRM1	3	52649451	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10	213089	52649451	145372979	8	13122											
ALDH1L1	10840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	125854457	125854457	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr3:125854457C>G	ENST00000393434.2	-	12	1742	c.1393G>C	c.(1393-1395)Gtg>Ctg	p.V465L	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.V364L|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.V465L|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.V465L|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.V475L	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	465	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.V465L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTGCGGCCACTGCCTTGTCG	0.592																																																1	Substitution - Missense(1)	kidney(1)											134	106	115					3																	125854457		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1393G>C	3.37:g.125854457C>G	ENSP00000377083:p.Val465Leu		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379067	0.61735	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	4.16	4.16	0.48862	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.155681	0.40908	N	0.001000	D	0.82967	0.5152	M	0.83118	2.625	0.80722	D	1	P;P;P	0.49635	0.9;0.926;0.926	P;P;P	0.48873	0.593;0.581;0.485	D	0.86746	0.1957	10	0.87932	D	0	.	14.3504	0.66697	0.0:1.0:0.0:0.0	.	364;517;465	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	L	475;465;364;465;465	ENSP00000273450:V475L;ENSP00000420293:V465L;ENSP00000395881:V364L;ENSP00000377083:V465L;ENSP00000377081:V465L	ENSP00000273450:V475L	V	-	1	0	ALDH1L1	127337147	1.000000	0.71417	0.996000	0.52242	0.102000	0.19082	5.043000	0.64208	2.331000	0.79229	0.460000	0.39030	GTG		0.592	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		G	125854457	C	G	125854457	3	3	217	1	0	0	0	0	1	0	0	0	494	565	20	4	1363	4	ALDH1L1	3	125854457	Missense_Mutation	SNP	C	TCGA-B0-5699-01A-11D-1534-10	73205006	125854457	72167973	9	13123											
PLXNA1	5361	broad.mit.edu;ucsc.edu	37	3	126707667	126707667	+	Silent	SNP	C	C	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr3:126707667C>T	ENST00000393409.2	+	1	231	c.231C>T	c.(229-231)aaC>aaT	p.N77N	PLXNA1_ENST00000251772.4_Silent_p.N54N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	77	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.N54N(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGTCGGGGAACCTGACACTGC	0.657																																																1	Substitution - coding silent(1)	kidney(1)											80	69	72					3																	126707667		2203	4300	6503	SO:0001819	synonymous_variant	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.231C>T	3.37:g.126707667C>T				Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																				0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		T	126707667	C	T	126707667	2	4	217	1	0	0	0	0	0	0	0	1	12121	506	18	2		2	PLXNA1	3	126707667	Silent	SNP	C	TCGA-B0-5699-01A-11D-1534-10	853210	126707667	71314763	10	13124											
NOP14	8602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2948137	2948137	+	Splice_Site	SNP	A	A	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr4:2948137A>G	ENST00000314262.6	-	11	1684		c.e11+1		NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Splice_Site|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000398071.4_Splice_Site|NOP14_ENST00000416614.2_Splice_Site	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein						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)	p.?(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AACTCTGCTTACCACATCCAA	0.527																																																1	Unknown(1)	kidney(1)											106	104	105					4																	2948137		2203	4300	6503	SO:0001630	splice_region_variant	8602			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.1635+1T>C	4.37:g.2948137A>G			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Splice_Site	SNP	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.425712	0.25639	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9117	0.63871	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOP14	2917935	1.000000	0.71417	0.980000	0.43619	0.048000	0.14542	8.514000	0.90545	1.789000	0.52484	0.402000	0.26972	.		0.527	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	Intron	G	2948137	A	G	2948137	5	3	217	1	0	0	0	0	0	0	1	0	10538	405	14	3	968	3	NOP14	4	2948137	Splice_Site	SNP	A	TCGA-B0-5699-01A-11D-1534-10		2948137	188206139	11	13125											
UGT2B11	10720	broad.mit.edu;hgsc.bcm.edu	37	4	70078407	70078407	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr4:70078407T>C	ENST00000446444.1	-	2	762	c.754A>G	c.(754-756)Aaa>Gaa	p.K252E	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	252					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.K252E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGTCAGCTTTTCCCATTGTC	0.373																																																1	Substitution - Missense(1)	kidney(1)											136	139	138					4																	70078407		2203	4299	6502	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.754A>G	4.37:g.70078407T>C	ENSP00000387683:p.Lys252Glu		Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	8.884	0.952408	0.18431	.	.	ENSG00000213759	ENST00000446444	T	0.61510	0.1	1.96	1.96	0.26148	.	0.151184	0.41938	U	0.000792	T	0.70552	0.3237	M	0.90650	3.135	0.19945	N	0.999944	P	0.41710	0.76	P	0.51974	0.686	T	0.63019	-0.6730	10	0.66056	D	0.02	.	7.5503	0.27793	0.0:0.0:0.0:1.0	.	252	O75310	UDB11_HUMAN	E	252	ENSP00000387683:K252E	ENSP00000387683:K252E	K	-	1	0	UGT2B11	70112996	0.994000	0.37717	0.356000	0.25785	0.035000	0.12851	2.439000	0.44846	0.898000	0.36418	0.155000	0.16302	AAA		0.373	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		C	70078407	T	C	70078407	3	2	217	1	0	0	0	0	1	0	0	0	16962	1850	64	3	855	3	UGT2B11	4	70078407	Missense_Mutation	SNP	T	TCGA-B0-5699-01A-11D-1534-10	67130270	70078407	121075869	12	13126											
UGT2B4	7363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	70346629	70346629	+	Splice_Site	SNP	C	C	G	rs71599906	byFrequency	TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr4:70346629C>G	ENST00000305107.6	-	6	1357		c.e6-1		UGT2B4_ENST00000506580.1_Splice_Site|UGT2B4_ENST00000381096.3_Splice_Site|UGT2B4_ENST00000512583.1_Splice_Site|AC108078.1_ENST00000583573.1_RNA	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4						cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CTCTTTATATCTAAACGATAA	0.433																																																1	Unknown(1)	kidney(1)											57	59	58					4																	70346629		2203	4300	6503	SO:0001630	splice_region_variant	7363			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1311-1G>C	4.37:g.70346629C>G			A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Splice_Site	SNP	ENST00000305107.6	37	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643529	0.29246	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	.	.	.	2.11	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2729	0.43493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UGT2B4	70381218	1.000000	0.71417	0.030000	0.17652	0.110000	0.19582	6.666000	0.74446	1.508000	0.48769	0.305000	0.20034	.		0.433	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139	Intron	G	70346629	C	G	70346629	5	3	217	1	0	0	0	0	0	0	1	0	16966	927	32	4	280	4	UGT2B4	4	70346629	Splice_Site	SNP	C	TCGA-B0-5699-01A-11D-1534-10	268222	70346629	120807647	13	13127											
PRDM9	56979	broad.mit.edu	37	5	23522473	23522473	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr5:23522473C>A	ENST00000296682.3	+	7	751	c.569C>A	c.(568-570)gCa>gAa	p.A190E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	190					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.A190E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGGGTCATGCATACAAAGAG	0.453										HNSCC(3;0.000094)																																						1	Substitution - Missense(1)	kidney(1)											154	163	160					5																	23522473		1974	4171	6145	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.569C>A	5.37:g.23522473C>A	ENSP00000296682:p.Ala190Glu		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641989	0.29157	.	.	ENSG00000164256	ENST00000296682	T	0.08102	3.13	3.63	-0.426	0.12314	SSXRD motif (1);	.	.	.	.	T	0.05547	0.0146	N	0.24115	0.695	0.09310	N	1	B	0.21520	0.057	B	0.18561	0.022	T	0.37526	-0.9702	9	0.66056	D	0.02	-0.8379	6.0841	0.19958	0.0:0.4834:0.0:0.5166	.	190	Q9NQV7	PRDM9_HUMAN	E	190	ENSP00000296682:A190E	ENSP00000296682:A190E	A	+	2	0	PRDM9	23558230	0.001000	0.12720	0.000000	0.03702	0.171000	0.22731	0.201000	0.17276	-0.001000	0.14495	0.531000	0.56144	GCA		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23522473	C	A	23522473	3	1	217	1	0	0	0	0	1	0	0	0	12468	710	25	4	591	4	PRDM9	5	23522473	Missense_Mutation	SNP	C	TCGA-B0-5699-01A-11D-1534-10		23522473	157392787	14	13128											
PCDHGB4	8641	broad.mit.edu;hgsc.bcm.edu	37	5	140769724	140769724	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr5:140769724G>C	ENST00000519479.1	+	1	2273	c.2273G>C	c.(2272-2274)gGa>gCa	p.G758A	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	758					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G758A(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACATACAGGAAAGACGGAG	0.443																																																1	Substitution - Missense(1)	kidney(1)											274	276	275					5																	140769724		1912	4139	6051	SO:0001583	missense	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2273G>C	5.37:g.140769724G>C	ENSP00000428288:p.Gly758Ala		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	0.042	-1.282039	0.01398	.	.	ENSG00000253953	ENST00000519479	T	0.44881	0.91	5.55	3.77	0.43336	.	.	.	.	.	T	0.25606	0.0623	N	0.16790	0.44	0.25310	N	0.989204	B;B	0.14012	0.007;0.009	B;B	0.20577	0.03;0.008	T	0.22103	-1.0226	9	0.10111	T	0.7	.	11.0238	0.47732	0.1543:0.0:0.8457:0.0	.	758;758	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	A	758	ENSP00000428288:G758A	ENSP00000428288:G758A	G	+	2	0	PCDHGB4	140749908	0.629000	0.27146	0.604000	0.28916	0.036000	0.12997	1.999000	0.40806	0.708000	0.31955	-0.251000	0.11542	GGA		0.443	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		C	140769724	G	C	140769724	3	2	217	1	0	0	0	0	1	0	0	0	11567	1174	41	4	2275	4	PCDHGB4	5	140769724	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10	117247251	140769724	40145536	15	13129											
FAM71B	153745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156589916	156589916	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr5:156589916G>A	ENST00000302938.4	-	2	1455	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	454						nucleus (GO:0005634)		p.R454C(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCTCCTGCGGTGACTTTCA	0.478																																																1	Substitution - Missense(1)	kidney(1)											176	167	170					5																	156589916		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1360C>T	5.37:g.156589916G>A	ENSP00000305596:p.Arg454Cys		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088750	0.36855	.	.	ENSG00000170613	ENST00000302938	T	0.19394	2.15	3.27	2.38	0.29361	.	0.818713	0.10033	N	0.724523	T	0.20251	0.0487	L	0.40543	1.245	0.18873	N	0.999988	D	0.69078	0.997	P	0.47299	0.543	T	0.15694	-1.0428	10	0.87932	D	0	-0.2522	5.4112	0.16349	0.1558:0.0:0.8442:0.0	.	454	Q8TC56	FA71B_HUMAN	C	454	ENSP00000305596:R454C	ENSP00000305596:R454C	R	-	1	0	FAM71B	156522494	0.003000	0.15002	0.178000	0.23040	0.250000	0.25880	1.070000	0.30653	1.761000	0.52028	0.467000	0.42956	CGC		0.478	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		A	156589916	G	A	156589916	3	1	217	1	0	0	0	0	1	0	0	0	5610	1116	39	1	461	1	FAM71B	5	156589916	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10	15820192	156589916	24325344	16	13130											
SYNGAP1	8831	broad.mit.edu;hgsc.bcm.edu	37	6	33408548	33408548	+	Silent	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr6:33408548G>A	ENST00000418600.2	+	11	1820	c.1719G>A	c.(1717-1719)cgG>cgA	p.R573R	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.R514R|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000293748.5_Silent_p.R573R	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	573	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.R573R(1)|p.R558R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTTCGTGGCGGCTGCGCTGCG	0.627																																																2	Substitution - coding silent(2)	kidney(2)											30	29	29					6																	33408548		2202	4300	6502	SO:0001819	synonymous_variant	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1719G>A	6.37:g.33408548G>A			A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	CCDS34434.2																																																																																				0.627	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		A	33408548	G	A	33408548	2	1	217	1	0	0	0	0	0	0	0	1	15452	1190	42	2		2	SYNGAP1	6	33408548	Silent	SNP	G	TCGA-B0-5699-01A-11D-1534-10		33408548	137706519	17	13131											
SLC26A8	116369	broad.mit.edu;hgsc.bcm.edu	37	6	35922941	35922941	+	Silent	SNP	G	G	A	rs193054248		TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr6:35922941G>A	ENST00000490799.1	-	17	2573	c.2220C>T	c.(2218-2220)gtC>gtT	p.V740V	SLC26A8_ENST00000394602.2_Silent_p.V635V|SLC26A8_ENST00000355574.2_Silent_p.V740V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.V740V(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCTTAATACGACTAACCCCC	0.512																																																3	Substitution - coding silent(3)	lung(2)|kidney(1)											103	95	98					6																	35922941		2203	4300	6503	SO:0001819	synonymous_variant	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2220C>T	6.37:g.35922941G>A				Silent	SNP	ENST00000490799.1	37	CCDS4813.1																																																																																				0.512	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			A	35922941	G	A	35922941	2	1	217	1	0	0	0	0	0	0	0	1	14529	1045	37	1		1	SLC26A8	6	35922941	Silent	SNP	G	TCGA-B0-5699-01A-11D-1534-10	2514393	35922941	135192126	18	13132											
PCMT1	5110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150094281	150094281	+	Silent	SNP	A	A	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr6:150094281A>G	ENST00000367380.5	+	3	375	c.168A>G	c.(166-168)caA>caG	p.Q56Q	PCMT1_ENST00000367384.2_Silent_p.Q114Q|PCMT1_ENST00000464889.1_Silent_p.Q114Q|PCMT1_ENST00000367378.1_Silent_p.Q114Q|PCMT1_ENST00000544496.1_Silent_p.Q21Q	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	56					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.Q56Q(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		CAGGTTTCCAAGCAACAATCA	0.303																																																1	Substitution - coding silent(1)	kidney(1)											125	131	129					6																	150094281		2203	4300	6503	SO:0001819	synonymous_variant	5110				CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.168A>G	6.37:g.150094281A>G			A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Silent	SNP	ENST00000367380.5	37																																																																																					0.303	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				G	150094281	A	G	150094281	2	3	217	1	0	0	0	0	0	0	0	1	11587	69	3	3		3	PCMT1	6	150094281	Silent	SNP	A	TCGA-B0-5699-01A-11D-1534-10	114171340	150094281	21020786	19	13133											
ABCB1	5243	broad.mit.edu;ucsc.edu	37	7	87214930	87214930	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr7:87214930C>T	ENST00000265724.3	-	5	601	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G62R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	62	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G62R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGTCCAGCCCCATGGATGATG	0.393																																																1	Substitution - Missense(1)	kidney(1)											93	94	94					7																	87214930		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.184G>A	7.37:g.87214930C>T	ENSP00000265724:p.Gly62Arg		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065747	0.36470	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	T;T	0.80214	-1.35;-1.35	5.72	5.72	0.89469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93377	0.7888	H	0.97440	4.005	0.44261	D	0.997114	D;D	0.89917	0.996;1.0	P;D	0.97110	0.883;1.0	D	0.95173	0.8292	10	0.87932	D	0	-22.2302	15.3886	0.74723	0.0:1.0:0.0:0.0	.	62;62	B5AK60;P08183	.;MDR1_HUMAN	R	62	ENSP00000265724:G62R;ENSP00000444095:G62R	ENSP00000265724:G62R	G	-	1	0	ABCB1	87052866	0.997000	0.39634	0.936000	0.37596	0.631000	0.37964	2.529000	0.45632	2.700000	0.92200	0.563000	0.77884	GGG		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		T	87214930	C	T	87214930	3	4	217	1	0	0	0	0	1	0	0	0	40	594	21	2	3758	2	ABCB1	7	87214930	Missense_Mutation	SNP	C	TCGA-B0-5699-01A-11D-1534-10		87214930	71923733	20	13134											
SLC25A40	55972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	87483612	87483612	+	Silent	SNP	T	T	C	rs539675158	byFrequency	TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr7:87483612T>C	ENST00000341119.5	-	5	517	c.171A>G	c.(169-171)gtA>gtG	p.V57V		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	57					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.V57V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CATTACTATATACAAAACATT	0.353													T|||	2	0.000399361	0.0015	0.0	5008	,	,		15278	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											127	119	122					7																	87483612		2203	4300	6503	SO:0001819	synonymous_variant	55972			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"Solute carriers"	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.171A>G	7.37:g.87483612T>C			A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	37	CCDS5610.1																																																																																				0.353	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		C	87483612	T	C	87483612	2	2	217	1	0	0	0	0	0	0	0	1	14511	1393	49	3		3	SLC25A40	7	87483612	Silent	SNP	T	TCGA-B0-5699-01A-11D-1534-10	268682	87483612	71655051	21	13135											
ALKBH4	54784	broad.mit.edu	37	7	102098340	102098340	+	Missense_Mutation	SNP	C	C	T	rs145100726	byFrequency	TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr7:102098340C>T	ENST00000292566.3	-	3	449	c.410G>A	c.(409-411)cGg>cAg	p.R137Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	137					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.R137Q(1)		kidney(1)|lung(5)|skin(2)	8						GCCCATCCTCCGCACCACCTC	0.637																																																1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	31	33	32		410	2.7	0.5	7	dbSNP_134	32	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ALKBH4	NM_017621.3	43	0,8,6495	TT,TC,CC		0.0698,0.0454,0.0615	benign	137/303	102098340	8,12998	2203	4300	6503	SO:0001583	missense	54784			BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"Alkylation repair homologs"	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.410G>A	7.37:g.102098340C>T	ENSP00000292566:p.Arg137Gln		Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	8.654	0.898875	0.17686	4.54E-4	6.98E-4	ENSG00000160993	ENST00000292566	T	0.13657	2.57	4.67	2.67	0.31697	.	1.080180	0.07107	N	0.841490	T	0.07458	0.0188	N	0.16790	0.44	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.41016	-0.9532	10	0.15952	T	0.53	-7.122	3.421	0.07393	0.0:0.4449:0.2285:0.3265	.	137	Q9NXW9	ALKB4_HUMAN	Q	137	ENSP00000292566:R137Q	ENSP00000292566:R137Q	R	-	2	0	ALKBH4	101885345	0.001000	0.12720	0.453000	0.27007	0.813000	0.45954	0.343000	0.19944	1.161000	0.42604	0.561000	0.74099	CGG		0.637	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		T	102098340	C	T	102098340	3	4	217	1	0	0	0	0	1	0	0	0	529	652	23	1	502	1	ALKBH4	7	102098340	Missense_Mutation	SNP	C	TCGA-B0-5699-01A-11D-1534-10	14614728	102098340	57040323	22	13136											
CLEC2L	154790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	139225199	139225199	+	Missense_Mutation	SNP	C	C	A	rs367894516		TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr7:139225199C>A	ENST00000422142.2	+	3	470	c.398C>A	c.(397-399)gCg>gAg	p.A133E		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	133	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A133E(1)		NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					ACCCACGAGGCGGTGCTGGCT	0.607																																																1	Substitution - Missense(1)	kidney(1)											14	17	16					7																	139225199		1999	4167	6166	SO:0001583	missense	154790			AK057548	CCDS47724.1	7q34	2011-05-18			ENSG00000236279	ENSG00000236279		"C-type lectin domain containing"	21969	protein-coding gene	gene with protein product							Standard	NM_001080511		Approved	FLJ32986	uc010lnd.3	P0C7M8	OTTHUMG00000164900	ENST00000422142.2:c.398C>A	7.37:g.139225199C>A	ENSP00000390661:p.Ala133Glu			Missense_Mutation	SNP	ENST00000422142.2	37	CCDS47724.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646154	0.67358	.	.	ENSG00000236279	ENST00000422142	T	0.26810	1.71	4.81	4.81	0.61882	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.58452	0.2123	M	0.91459	3.21	0.39989	D	0.975019	D	0.89917	1.0	D	0.87578	0.998	T	0.69595	-0.5103	9	0.87932	D	0	-19.9036	13.3746	0.60730	0.0:1.0:0.0:0.0	.	133	P0C7M8	CLC2L_HUMAN	E	133	ENSP00000390661:A133E	ENSP00000390661:A133E	A	+	2	0	CLEC2L	138875739	0.987000	0.35691	0.757000	0.31301	0.773000	0.43773	3.843000	0.55865	2.200000	0.70718	0.563000	0.77884	GCG		0.607	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380878.1	NM_001080511		A	139225199	C	A	139225199	3	1	217	1	0	0	0	0	1	0	0	0	3511	768	27	4	408	4	CLEC2L	7	139225199	Missense_Mutation	SNP	C	TCGA-B0-5699-01A-11D-1534-10	37126859	139225199	19913464	23	13137											
PTK2B	2185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27296898	27296898	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr8:27296898G>A	ENST00000397501.1	+	25	2625	c.1817G>A	c.(1816-1818)aGt>aAt	p.S606N	PTK2B_ENST00000346049.5_Missense_Mutation_p.S606N|PTK2B_ENST00000397497.4_Missense_Mutation_p.S352N|PTK2B_ENST00000544172.1_Missense_Mutation_p.S606N|PTK2B_ENST00000420218.2_Missense_Mutation_p.S606N|PTK2B_ENST00000517339.1_Missense_Mutation_p.S606N|PTK2B_ENST00000338238.4_Missense_Mutation_p.S606N	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	606	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.S606N(2)|p.S352N(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	ACGACAGCCAGTGACGTCTGG	0.527																																																3	Substitution - Missense(3)	kidney(3)											87	79	82					8																	27296898		2203	4300	6503	SO:0001583	missense	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1817G>A	8.37:g.27296898G>A	ENSP00000380638:p.Ser606Asn		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649946	0.87958	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.79	5.79	0.91817	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96614	0.8895	H	0.97186	3.955	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.949;0.986	D	0.97619	1.0134	10	0.87932	D	0	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	352;606;606	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	N	606;611;606;606;606;606;606;352	ENSP00000380638:S606N;ENSP00000342242:S606N;ENSP00000440926:S606N;ENSP00000332816:S606N;ENSP00000391995:S606N;ENSP00000427931:S606N;ENSP00000380634:S352N	ENSP00000342242:S606N	S	+	2	0	PTK2B	27352815	1.000000	0.71417	0.994000	0.49952	0.526000	0.34562	9.869000	0.99810	2.733000	0.93635	0.655000	0.94253	AGT		0.527	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		A	27296898	G	A	27296898	3	1	217	1	0	0	0	0	1	0	0	0	12769	1029	36	2	1891	2	PTK2B	8	27296898	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10		27296898	119067124	24	13138											
GSR	2936	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	30538473	30538473	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr8:30538473T>C	ENST00000221130.5	-	12	1457	c.1367A>G	c.(1366-1368)aAa>aGa	p.K456R	GSR_ENST00000541648.1_Missense_Mutation_p.K403R|GSR_ENST00000537535.1_Missense_Mutation_p.K374R|GSR_ENST00000414019.1_Missense_Mutation_p.K413R|GSR_ENST00000546342.1_Missense_Mutation_p.K427R	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	456					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)	p.K456R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TGTTTTCCTTTTGGTAACTGC	0.363																																																1	Substitution - Missense(1)	kidney(1)											295	273	281					8																	30538473		2202	4300	6502	SO:0001583	missense	2936				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1367A>G	8.37:g.30538473T>C	ENSP00000221130:p.Lys456Arg		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.644877	0.29246	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07	5.35	0.653	0.17828	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.472179	0.25114	N	0.033037	T	0.79246	0.4413	N	0.10945	0.07	0.24340	N	0.994961	B	0.02656	0.0	B	0.06405	0.002	T	0.64732	-0.6338	10	0.22109	T	0.4	-16.7824	6.4399	0.21845	0.0:0.5109:0.2592:0.2298	.	456	P00390	GSHR_HUMAN	R	456;413;427;403;374	ENSP00000221130:K456R;ENSP00000390065:K413R;ENSP00000445516:K427R;ENSP00000444559:K403R;ENSP00000438845:K374R	ENSP00000221130:K456R	K	-	2	0	GSR	30658015	0.999000	0.42202	0.987000	0.45799	0.749000	0.42624	0.600000	0.24104	0.098000	0.17522	-0.256000	0.11100	AAA		0.363	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			C	30538473	T	C	30538473	3	2	217	1	0	0	0	0	1	0	0	0	6830	1841	64	3	209	3	GSR	8	30538473	Missense_Mutation	SNP	T	TCGA-B0-5699-01A-11D-1534-10	3241575	30538473	115825549	25	13139											
A1CF	29974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	52601746	52601746	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr10:52601746T>A	ENST00000373993.1	-	3	285	c.241A>T	c.(241-243)Aaa>Taa	p.K81*	A1CF_ENST00000395489.2_Nonsense_Mutation_p.K74*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.K81*|A1CF_ENST00000373997.3_Nonsense_Mutation_p.K81*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.K89*|A1CF_ENST00000374001.2_Nonsense_Mutation_p.K81*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.K81*			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	81	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.K89*(1)|p.K81*(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCATAAATTTTACCGATCTGC	0.318																																																2	Substitution - Nonsense(2)	kidney(2)											102	99	100					10																	52601746		2202	4299	6501	SO:0001587	stop_gained	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.241A>T	10.37:g.52601746T>A	ENSP00000363105:p.Lys81*		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Nonsense_Mutation	SNP	ENST00000373993.1	37	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	T	38	7.047457	0.98025	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	.	.	.	5.76	5.76	0.90799	.	0.085998	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.619	14.0338	0.64632	0.0:0.0:0.0:1.0	.	.	.	.	X	81;81;81;89;81;81;64;74;81	.	ENSP00000282641:K81X	K	-	1	0	A1CF	52271752	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.527000	0.81931	2.206000	0.71126	0.383000	0.25322	AAA		0.318	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		A	52601746	T	A	52601746	4	1	217	1	0	0	0	0	0	1	0	0	2	1763	61	5	1579	5	A1CF	10	52601746	Nonsense_Mutation	SNP	T	TCGA-B0-5699-01A-11D-1534-10		52601746	82933001	26	13140											
LRIT2	340745	broad.mit.edu	37	10	85982281	85982281	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr10:85982281G>T	ENST00000372113.4	-	3	1053	c.1048C>A	c.(1048-1050)Cta>Ata	p.L350I	LRIT2_ENST00000538192.1_Missense_Mutation_p.L360I	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	350						integral component of membrane (GO:0016021)		p.L350I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGTGCATGTAGGGCCTGGGCA	0.542																																																1	Substitution - Missense(1)	kidney(1)											93	79	84					10																	85982281		2203	4300	6503	SO:0001583	missense	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1048C>A	10.37:g.85982281G>T	ENSP00000361185:p.Leu350Ile		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	1.546	-0.540422	0.04053	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.61859	0.55;0.07	4.96	-2.73	0.05950	.	1.055670	0.07318	N	0.877159	T	0.29423	0.0733	N	0.08118	0	0.09310	N	1	B;B	0.23806	0.091;0.091	B;B	0.19148	0.024;0.024	T	0.12528	-1.0544	10	0.27785	T	0.31	.	3.4832	0.07610	0.1543:0.3405:0.3832:0.1219	.	360;350	B7ZME6;A6NDA9	.;LRIT2_HUMAN	I	350;360	ENSP00000361185:L350I;ENSP00000438264:L360I	ENSP00000361185:L350I	L	-	1	2	LRIT2	85972261	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.047000	0.14056	-0.320000	0.08640	0.557000	0.71058	CTA		0.542	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		T	85982281	G	T	85982281	3	4	217	1	0	0	0	0	1	0	0	0	8950	991	35	4	608	4	LRIT2	10	85982281	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10	33380535	85982281	49552466	27	13141											
NAV2	89797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	19955242	19955243	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr11:19955242_19955243CA>AT	ENST00000396087.3	+	8	1620_1621	c.1521_1522CA>AT	c.(1519-1524)ggCAat>ggATat	p.N508Y	NAV2_ENST00000540292.1_Missense_Mutation_p.N439Y|NAV2_ENST00000527559.2_Missense_Mutation_p.N437Y|NAV2_ENST00000349880.4_Missense_Mutation_p.N485Y|NAV2_ENST00000396085.1_Missense_Mutation_p.N485Y|NAV2_ENST00000360655.4_Missense_Mutation_p.N421Y	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	508					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.N508Y(1)|p.G507G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTCTgaaaggcaatgagaaaga	0.54																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	Exception_encountered	11.37:g.19955242_19955243delinsAT	ENSP00000379396:p.Asn508Tyr		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent|Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.54	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		AT	19955243	CA	AT	19955242	3	1	217	1	0	0	0	0	1	0	0	0	10186	697	25	4	1557	4	NAV2	11	19955242	Missense_Mutation	DNP	CA	TCGA-B0-5699-01A-11D-1534-10		19955242	115051274	28	13142											
HSPA8	3312	broad.mit.edu;hgsc.bcm.edu	37	11	122930929	122930929	+	Silent	SNP	A	A	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr11:122930929A>G	ENST00000532636.1	-	4	578	c.459T>C	c.(457-459)tcT>tcC	p.S153S	HSPA8_ENST00000534624.1_Silent_p.S153S|HSPA8_ENST00000526862.1_5'UTR|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000227378.3_Silent_p.S153S|HSPA8_ENST00000533540.1_Intron|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Intron|HSPA8_ENST00000534319.1_5'UTR|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Silent_p.S153S			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	153					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.S153S(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCTGACGCTGAGAGTCATTAA	0.408																																					Colon(21;486 594 5900 6733 14272)											1	Substitution - coding silent(1)	kidney(1)											75	71	73					11																	122930929		2202	4297	6499	SO:0001819	synonymous_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.459T>C	11.37:g.122930929A>G			Q9H3R6	Silent	SNP	ENST00000532636.1	37	CCDS8440.1																																																																																				0.408	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			G	122930929	A	G	122930929	2	3	217	1	0	0	0	0	0	0	0	1	7418	291	11	3		3	HSPA8	11	122930929	Silent	SNP	A	TCGA-B0-5699-01A-11D-1534-10	102975687	122930929	12075587	29	13143											
ZNF740	283337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53579788	53579788	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr12:53579788T>A	ENST00000416904.3	+	5	745	c.300T>A	c.(298-300)aaT>aaA	p.N100K		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.N100K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						TTCCCAAAAATTTTGTTTGTG	0.438																																																1	Substitution - Missense(1)	kidney(1)											76	71	73					12																	53579788		1851	4094	5945	SO:0001583	missense	283337			BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"Zinc fingers, C2H2-type"	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.300T>A	12.37:g.53579788T>A	ENSP00000409463:p.Asn100Lys		A8K9M9	Missense_Mutation	SNP	ENST00000416904.3	37	CCDS44896.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017542	0.75161	.	.	ENSG00000139651	ENST00000416904	T	0.75938	-0.98	5.08	2.78	0.32641	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.076011	0.53938	D	0.000059	T	0.58424	0.2121	N	0.24115	0.695	0.45995	D	0.998808	B	0.24576	0.106	B	0.23018	0.043	T	0.58685	-0.7593	10	0.72032	D	0.01	-21.3462	9.1442	0.36921	0.0:0.1605:0.0:0.8395	.	100	Q8NDX6	ZN740_HUMAN	K	100	ENSP00000409463:N100K	ENSP00000409463:N100K	N	+	3	2	ZNF740	51866055	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.425000	0.21346	1.069000	0.40788	0.460000	0.39030	AAT		0.438	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406890.2	NM_001004304		A	53579788	T	A	53579788	3	1	217	1	0	0	0	0	1	0	0	0	18133	1490	52	5	314	5	ZNF740	12	53579788	Missense_Mutation	SNP	T	TCGA-B0-5699-01A-11D-1534-10		53579788	80272107	30	13144											
SYT1	6857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	79747321	79747321	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr12:79747321G>A	ENST00000261205.4	+	9	1507	c.850G>A	c.(850-852)Gta>Ata	p.V284I	SYT1_ENST00000393240.3_Missense_Mutation_p.V284I|SYT1_ENST00000457153.2_Missense_Mutation_p.V281I|SYT1_ENST00000552744.1_Missense_Mutation_p.V284I	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	284	Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.V284I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCTTCGCTACGTACCTACTGC	0.398																																																1	Substitution - Missense(1)	kidney(1)											241	222	229					12																	79747321		2203	4300	6503	SO:0001583	missense	6857				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.850G>A	12.37:g.79747321G>A	ENSP00000261205:p.Val284Ile		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896505	0.91962	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	6.06	6.06	0.98353	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	M	0.90309	3.105	0.80722	D	1	P;P	0.45474	0.859;0.859	B;B	0.29353	0.101;0.101	T	0.81680	-0.0823	10	0.62326	D	0.03	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	284;284	Q6AI31;P21579	.;SYT1_HUMAN	I	284;284;281;284	ENSP00000376932:V284I;ENSP00000261205:V284I;ENSP00000391056:V281I;ENSP00000447575:V284I	ENSP00000261205:V284I	V	+	1	0	SYT1	78271452	1.000000	0.71417	0.293000	0.24932	0.986000	0.74619	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GTA		0.398	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		A	79747321	G	A	79747321	3	1	217	1	0	0	0	0	1	0	0	0	15470	1145	40	1	872	1	SYT1	12	79747321	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10	26167533	79747321	54104574	31	13145											
DCAF11	80344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24587733	24587733	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr14:24587733G>C	ENST00000446197.3	+	7	1441	c.714G>C	c.(712-714)tgG>tgC	p.W238C	RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000559115.1_Missense_Mutation_p.W238C|DCAF11_ENST00000396941.4_Missense_Mutation_p.W212C|DCAF11_ENST00000396936.1_Missense_Mutation_p.W138C	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	238					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.W238C(1)									ACTCTAGCTGGTCTGATTACA	0.552																																																1	Substitution - Missense(1)	kidney(1)											85	76	79					14																	24587733		2203	4300	6503	SO:0001583	missense	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.714G>C	14.37:g.24587733G>C	ENSP00000415556:p.Trp238Cys		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.946157	0.73672	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.41065	5.05;1.01	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.997;1.0;0.998	T	0.66995	-0.5782	10	0.39692	T	0.17	-11.9079	16.4614	0.84056	0.0:0.0:1.0:0.0	.	161;212;138;238;238	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	C	238;212;138;212	ENSP00000380142:W138C;ENSP00000380146:W212C	ENSP00000323680:W238C	W	+	3	0	DCAF11	23657573	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.016000	0.88706	2.746000	0.94184	0.655000	0.94253	TGG		0.552	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			C	24587733	G	C	24587733	3	2	217	1	0	0	0	0	1	0	0	0	4264	1270	44	4	736	4	DCAF11	14	24587733	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10		24587733	82761807	32	13146											
ARHGAP5	394	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	32563340	32563340	+	Nonsense_Mutation	SNP	T	T	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr14:32563340T>G	ENST00000345122.3	+	2	3780	c.3465T>G	c.(3463-3465)taT>taG	p.Y1155*	ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.Y1155*|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.Y1155*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.Y1155*|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1155					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.Y1155*(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AATACAAATATAAATCTAAAA	0.353																																					NSCLC(9;77 350 3443 29227 41353)											1	Substitution - Nonsense(1)	kidney(1)											56	60	58					14																	32563340		2202	4299	6501	SO:0001587	stop_gained	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3465T>G	14.37:g.32563340T>G	ENSP00000371897:p.Tyr1155*		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	43	10.140868	0.99345	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	.	.	.	5.12	-0.955	0.10356	.	0.364853	0.31872	N	0.006924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.1135	0.53852	0.0:0.4628:0.0:0.5372	.	.	.	.	X	1155	.	ENSP00000371897:Y1155X	Y	+	3	2	ARHGAP5	31633091	0.223000	0.23663	0.996000	0.52242	0.909000	0.53808	-0.462000	0.06704	-0.270000	0.09285	-1.773000	0.00660	TAT		0.353	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		G	32563340	T	G	32563340	4	3	217	1	0	0	0	0	0	1	0	0	886	1413	49	5	3467	5	ARHGAP5	14	32563340	Nonsense_Mutation	SNP	T	TCGA-B0-5699-01A-11D-1534-10	7975607	32563340	74786200	33	13147											
C14orf138	79609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	50579393	50579393	+	Silent	SNP	T	T	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr14:50579393T>C	ENST00000395860.2	-	5	619	c.615A>G	c.(613-615)aaA>aaG	p.K205K	VCPKMT_ENST00000395859.2_Intron	NM_024558.2	NP_078834.2	Q9H867	MT21D_HUMAN	valosin containing protein lysine (K) methyltransferase	205					peptidyl-lysine trimethylation (GO:0018023)	cytoplasm (GO:0005737)	protein-lysine N-methyltransferase activity (GO:0016279)	p.K205K(1)									CTTCATCATGTTTTTCCAAAG	0.303																																																1	Substitution - coding silent(1)	kidney(1)											46	40	42					14																	50579393		1785	4045	5830	SO:0001819	synonymous_variant	0			AK023982	CCDS9696.2, CCDS41951.1	14q21.3	2013-09-30	2013-09-30	2013-09-30	ENSG00000100483	ENSG00000100483			20352	protein-coding gene	gene with protein product		615260	"chromosome 14 open reading frame 138", "methyltransferase like 21D"	C14orf138, METTL21D		22948820	Standard	NR_049738		Approved	VCP-KMT	uc001wxo.1	Q9H867	OTTHUMG00000029531	ENST00000395860.2:c.615A>G	14.37:g.50579393T>C			B7ZLA3|B7ZLA4|Q2M2X3|Q86T12	Silent	SNP	ENST00000395860.2	37	CCDS9696.2																																																																																				0.303	VCPKMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276877.1	NM_024558		C	50579393	T	C	50579393	2	2	217	1	0	0	0	0	0	0	0	1	1748	1722	60	3		3	C14orf138	14	50579393	Silent	SNP	T	TCGA-B0-5699-01A-11D-1534-10	18016053	50579393	56770147	34	13148											
ACSBG1	23205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78486923	78486923	+	Silent	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr15:78486923G>A	ENST00000258873.4	-	3	583	c.378C>T	c.(376-378)cgC>cgT	p.R126R	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000558828.1_5'Flank|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	126					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R126R(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ACTTGTCCTGGCGCTTGAAGC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											135	129	131					15																	78486923		2196	4293	6489	SO:0001819	synonymous_variant	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.378C>T	15.37:g.78486923G>A			B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	CCDS10298.1																																																																																				0.592	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		A	78486923	G	A	78486923	2	1	217	1	0	0	0	0	0	0	0	1	173	1190	42	2		2	ACSBG1	15	78486923	Silent	SNP	G	TCGA-B0-5699-01A-11D-1534-10		78486923	24044469	35	13149											
NAT9	26151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72769713	72769713	+	Splice_Site	SNP	A	A	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr17:72769713A>G	ENST00000357814.3	-	3	264		c.e3+1		NAT9_ENST00000580632.1_Splice_Site|NAT9_ENST00000580216.1_Splice_Site|NAT9_ENST00000582524.1_Splice_Site|NAT9_ENST00000582870.1_Splice_Site|NAT9_ENST00000583476.1_Splice_Site|NAT9_ENST00000581136.1_Splice_Site|NAT9_ENST00000578822.1_Splice_Site|TMEM104_ENST00000582330.1_5'Flank|NAT9_ENST00000580301.1_Splice_Site|TMEM104_ENST00000335464.5_5'Flank|TMEM104_ENST00000582773.1_5'Flank|TMEM104_ENST00000417024.2_5'Flank|NAT9_ENST00000583757.1_Splice_Site	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)							protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GGCACTCCTCACTGTCTGCAT	0.612																																																1	Unknown(1)	kidney(1)											89	78	82					17																	72769713		2203	4300	6503	SO:0001630	splice_region_variant	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.190+1T>C	17.37:g.72769713A>G			B2R7F0|Q9BTD0|Q9Y3T3	Splice_Site	SNP	ENST00000357814.3	37	CCDS11706.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681895	0.47991	.	.	ENSG00000109065	ENST00000357814	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8053	0.69948	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAT9	70281308	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	9.248000	0.95456	1.953000	0.56701	0.379000	0.24179	.		0.612	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654	Intron	G	72769713	A	G	72769713	5	3	217	1	0	0	0	0	0	0	1	0	10184	173	6	3	451	3	NAT9	17	72769713	Splice_Site	SNP	A	TCGA-B0-5699-01A-11D-1534-10		72769713	8425497	36	13150											
KIAA1468	57614	broad.mit.edu;hgsc.bcm.edu	37	18	59854885	59854885	+	Silent	SNP	T	T	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr18:59854885T>G	ENST00000398130.2	+	1	379	c.147T>G	c.(145-147)ccT>ccG	p.P49P	PIGN_ENST00000357637.5_5'Flank|PIGN_ENST00000400334.3_5'Flank|PIGN_ENST00000593225.1_5'Flank|KIAA1468_ENST00000256858.6_Silent_p.P49P	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	49								p.P49P(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GCCTAGATCCTGGCTCTGCGG	0.657																																																1	Substitution - coding silent(1)	kidney(1)											56	68	64					18																	59854885		2016	4158	6174	SO:0001819	synonymous_variant	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.147T>G	18.37:g.59854885T>G				Silent	SNP	ENST00000398130.2	37	CCDS11979.2																																																																																				0.657	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		G	59854885	T	G	59854885	2	3	217	1	0	0	0	0	0	0	0	1	8238	1567	55	5		5	KIAA1468	18	59854885	Silent	SNP	T	TCGA-B0-5699-01A-11D-1534-10		59854885	18222363	37	13151											
VAV1	7409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6828475	6828475	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr19:6828475C>T	ENST00000602142.1	+	11	1151	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	VAV1_ENST00000304076.2_Missense_Mutation_p.R357W|VAV1_ENST00000539284.1_Missense_Mutation_p.R260W|VAV1_ENST00000596764.1_Missense_Mutation_p.R325W|VAV1_ENST00000599806.1_Missense_Mutation_p.R302W	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	357	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R357W(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGAGAACCTGCGGCTGGCCCT	0.627																																																1	Substitution - Missense(1)	kidney(1)											60	63	62					19																	6828475		2203	4300	6503	SO:0001583	missense	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1069C>T	19.37:g.6828475C>T	ENSP00000472929:p.Arg357Trp		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.144975	0.57044	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.63913	-0.07;-0.07	5.0	2.81	0.32909	Dbl homology (DH) domain (5);	0.071358	0.53938	D	0.000043	T	0.78259	0.4255	M	0.83953	2.67	0.50171	D	0.999854	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.981;0.992;0.993;0.998	T	0.79274	-0.1871	10	0.87932	D	0	.	11.1257	0.48317	0.4865:0.5135:0.0:0.0	.	260;357;302;357	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	W	357;260	ENSP00000302269:R357W;ENSP00000443242:R260W	ENSP00000302269:R357W	R	+	1	2	VAV1	6779475	0.873000	0.30073	0.995000	0.50966	0.398000	0.30690	0.216000	0.17585	0.499000	0.27970	-0.518000	0.04402	CGG		0.627	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			T	6828475	C	T	6828475	3	4	217	1	0	0	0	0	1	0	0	0	17136	759	27	1	1111	1	VAV1	19	6828475	Missense_Mutation	SNP	C	TCGA-B0-5699-01A-11D-1534-10		6828475	52300508	38	13152											
ANKRD27	84079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	33110234	33110234	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr19:33110234A>T	ENST00000306065.4	-	20	2097	c.1939T>A	c.(1939-1941)Tcc>Acc	p.S647T		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	647					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.S647T(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGGAAGTGGAGGACTCTTGG	0.622																																																1	Substitution - Missense(1)	kidney(1)											88	81	84					19																	33110234		2203	4300	6503	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1939T>A	19.37:g.33110234A>T	ENSP00000304292:p.Ser647Thr		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063074	0.36373	.	.	ENSG00000105186	ENST00000306065	T	0.62788	-0.0	5.57	4.56	0.56223	Ankyrin repeat-containing domain (2);	0.000000	0.56097	D	0.000039	T	0.53367	0.1792	M	0.61703	1.905	0.80722	D	1	P	0.36282	0.546	B	0.33295	0.161	T	0.48445	-0.9035	10	0.27082	T	0.32	-5.0298	8.0106	0.30351	0.8382:0.0:0.1618:0.0	.	647	Q96NW4	ANR27_HUMAN	T	647	ENSP00000304292:S647T	ENSP00000304292:S647T	S	-	1	0	ANKRD27	37802074	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.624000	0.54231	0.944000	0.37579	0.533000	0.62120	TCC		0.622	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		T	33110234	A	T	33110234	3	4	217	1	0	0	0	0	1	0	0	0	655	304	11	5	1253	5	ANKRD27	19	33110234	Missense_Mutation	SNP	A	TCGA-B0-5699-01A-11D-1534-10	26281759	33110234	26018749	39	13153											
FPR1	2357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52249899	52249899	+	Missense_Mutation	SNP	C	C	T	rs547228145		TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr19:52249899C>T	ENST00000595042.1	-	3	490	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	FPR1_ENST00000304748.4_Missense_Mutation_p.A117T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	117					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.A117T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCAATGAGGGCGATCAGGAAG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21669	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											114	88	97					19																	52249899		2203	4300	6503	SO:0001583	missense	2357			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.349G>A	19.37:g.52249899C>T	ENSP00000471493:p.Ala117Thr		Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	0.110	-1.140343	0.01728	.	.	ENSG00000171051	ENST00000304748	T	0.70986	-0.53	3.66	0.215	0.15253	GPCR, rhodopsin-like superfamily (1);	0.162995	0.40469	N	0.001099	T	0.35856	0.0946	N	0.05050	-0.12	0.27362	N	0.955931	B	0.11235	0.004	B	0.17722	0.019	T	0.27536	-1.0071	10	0.02654	T	1	.	2.8556	0.05571	0.4295:0.3723:0.0:0.1982	.	117	P21462	FPR1_HUMAN	T	117	ENSP00000302707:A117T	ENSP00000302707:A117T	A	-	1	0	FPR1	56941711	0.028000	0.19301	0.267000	0.24556	0.398000	0.30690	1.478000	0.35442	0.281000	0.22233	-0.152000	0.13540	GCC		0.557	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		T	52249899	C	T	52249899	3	4	217	1	0	0	0	0	1	0	0	0	6040	768	27	1	707	1	FPR1	19	52249899	Missense_Mutation	SNP	C	TCGA-B0-5699-01A-11D-1534-10	19139665	52249899	6879084	40	13154											
EYA2	2139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	45702893	45702893	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr20:45702893C>A	ENST00000327619.5	+	7	954	c.580C>A	c.(580-582)Cct>Act	p.P194T	EYA2_ENST00000317304.6_Missense_Mutation_p.P194T|EYA2_ENST00000357410.3_Missense_Mutation_p.P194T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	194					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.P194T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAGCATCTGCCCTTCGCCCCT	0.612																																					Pancreas(120;56 1725 18501 25218 43520)											1	Substitution - Missense(1)	kidney(1)											146	115	125					20																	45702893		2203	4300	6503	SO:0001583	missense	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.580C>A	20.37:g.45702893C>A	ENSP00000333640:p.Pro194Thr		Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611071	0.46631	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	T;T;T	0.81415	-1.49;-1.49;-1.49	5.48	1.41	0.22369	.	0.107292	0.64402	D	0.000004	T	0.72179	0.3428	L	0.50333	1.59	0.48185	D	0.999603	P;P;P;P	0.45531	0.86;0.649;0.702;0.702	B;B;B;B	0.41510	0.359;0.254;0.321;0.321	T	0.65459	-0.6163	10	0.22706	T	0.39	-12.3831	10.3388	0.43864	0.0:0.7516:0.0:0.2484	.	194;194;194;194	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	T	194	ENSP00000333640:P194T;ENSP00000349986:P194T;ENSP00000321590:P194T	ENSP00000321590:P194T	P	+	1	0	EYA2	45136300	1.000000	0.71417	0.969000	0.41365	0.972000	0.66771	1.757000	0.38400	0.283000	0.22279	0.655000	0.94253	CCT		0.612	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		A	45702893	C	A	45702893	3	1	217	1	0	0	0	0	1	0	0	0	5331	623	22	4	602	4	EYA2	20	45702893	Missense_Mutation	SNP	C	TCGA-B0-5699-01A-11D-1534-10		45702893	17322627	41	13155											
DDX27	55661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47838004	47838004	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr20:47838004G>C	ENST00000371764.4	+	2	211	c.202G>C	c.(202-204)Ggc>Cgc	p.G68R	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	68	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.G68R(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATTGTGCTGGGCAGACGACA	0.527																																																1	Substitution - Missense(1)	kidney(1)											71	64	66					20																	47838004		2203	4300	6503	SO:0001583	missense	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.202G>C	20.37:g.47838004G>C	ENSP00000360828:p.Gly68Arg		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	4.806	0.149826	0.09185	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	D	0.96745	-4.11	5.16	5.16	0.70880	.	0.095347	0.64402	D	0.000001	D	0.92381	0.7582	L	0.33485	1.01	0.36861	D	0.888394	B	0.28713	0.22	B	0.24006	0.05	D	0.91235	0.5017	10	0.17369	T	0.5	-10.6358	16.1783	0.81884	0.0:0.0:1.0:0.0	.	68	Q96GQ7	DDX27_HUMAN	R	68	ENSP00000360828:G68R	ENSP00000360828:G68R	G	+	1	0	DDX27	47271411	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	5.235000	0.65348	2.698000	0.92095	0.561000	0.74099	GGC		0.527	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			C	47838004	G	C	47838004	3	2	217	1	0	0	0	0	1	0	0	0	4356	1232	43	4	208	4	DDX27	20	47838004	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10	2135111	47838004	15187516	42	13156											
ZNFX1	57169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47887950	47887950	+	Silent	SNP	C	C	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr20:47887950C>T	ENST00000396105.1	-	3	645	c.399G>A	c.(397-399)aaG>aaA	p.K133K	ZNFX1_ENST00000371752.1_Silent_p.K133K|ZNFX1_ENST00000371754.4_Silent_p.K133K	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	133							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K133K(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTTCTGTAGGCTTCTGGTGGG	0.522																																																2	Substitution - coding silent(2)	kidney(2)											134	132	132					20																	47887950		2203	4300	6503	SO:0001819	synonymous_variant	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.399G>A	20.37:g.47887950C>T			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	CCDS13417.1																																																																																				0.522	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		T	47887950	C	T	47887950	2	4	217	1	0	0	0	0	0	0	0	1	18210	796	28	2		2	ZNFX1	20	47887950	Silent	SNP	C	TCGA-B0-5699-01A-11D-1534-10	49946	47887950	15137570	43	13157											
GATA5	140628	broad.mit.edu	37	20	61041502	61041502	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr20:61041502G>A	ENST00000252997.2	-	4	866	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	269					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L269F(1)		kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			TTCATGTAGAGGCCGCAGGCA	0.697																																																1	Substitution - Missense(1)	kidney(1)											28	28	28					20																	61041502		2192	4295	6487	SO:0001583	missense	140628			BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"GATA zinc finger domain containing"	15802	protein-coding gene	gene with protein product		611496	"GATA-binding protein 5"			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.805C>T	20.37:g.61041502G>A	ENSP00000252997:p.Leu269Phe		D9ZGF7|Q17RE2|Q86VU4	Missense_Mutation	SNP	ENST00000252997.2	37	CCDS13499.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635183	0.67130	.	.	ENSG00000130700	ENST00000370545;ENST00000540404;ENST00000252997	D	0.99751	-6.63	4.7	3.74	0.42951	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (3);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	H	0.99609	4.655	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97262	0.9905	10	0.87932	D	0	-3.5305	7.2944	0.26385	0.2135:0.0:0.7865:0.0	.	269	Q9BWX5	GATA5_HUMAN	F	269;289;269	ENSP00000252997:L269F	ENSP00000252997:L269F	L	-	1	0	GATA5	60474897	1.000000	0.71417	0.955000	0.39395	0.591000	0.36615	4.518000	0.60510	2.151000	0.67156	0.313000	0.20887	CTC		0.697	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		A	61041502	G	A	61041502	3	1	217	1	0	0	0	0	1	0	0	0	6259	1000	35	2	404	2	GATA5	20	61041502	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10	13153552	61041502	1984018	44	13158											
SFRS15	57466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33076230	33076230	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr21:33076230C>G	ENST00000286835.7	-	4	551	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q	SCAF4_ENST00000434667.3_Missense_Mutation_p.E42Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.E57Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	57	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E57Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACCTTGTATTCTGGTTTACAC	0.348																																																1	Substitution - Missense(1)	kidney(1)											73	68	70					21																	33076230		2203	4300	6503	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.169G>C	21.37:g.33076230C>G	ENSP00000286835:p.Glu57Gln		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420770	0.83559	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.47869	0.83;0.83;0.83	5.83	5.83	0.93111	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	M	0.80508	2.5	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.975;0.975;0.989;0.975	T	0.73978	-0.3812	10	0.62326	D	0.03	-21.6232	20.1338	0.98010	0.0:1.0:0.0:0.0	.	42;57;57;57	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	Q	42;57;57	ENSP00000402377:E42Q;ENSP00000286835:E57Q;ENSP00000382703:E57Q	ENSP00000286835:E57Q	E	-	1	0	SCAF4	31998101	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	GAA		0.348	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		G	33076230	C	G	33076230	3	3	217	1	0	0	0	0	1	0	0	0	14177	922	32	4	3342	4	SFRS15	21	33076230	Missense_Mutation	SNP	C	TCGA-B0-5699-01A-11D-1534-10		33076230	15053665	45	13159											
RPL3	6122	broad.mit.edu;ucsc.edu	37	22	39709724	39709724	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr22:39709724A>T	ENST00000216146.4	-	8	1135	c.962T>A	c.(961-963)gTc>gAc	p.V321D	RPL3_ENST00000401609.1_Missense_Mutation_p.V269D|SNORD83B_ENST00000386745.1_RNA|SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	321					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.V321D(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	ACCATAGTGGACAAAGCCACC	0.587																																																1	Substitution - Missense(1)	kidney(1)											149	153	152					22																	39709724		2203	4300	6503	SO:0001583	missense	6122			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.962T>A	22.37:g.39709724A>T	ENSP00000346001:p.Val321Asp		B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	37	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001979	0.74932	.	.	ENSG00000100316	ENST00000401609;ENST00000216146;ENST00000402527	T;T;T	0.49139	0.79;0.79;0.79	5.18	5.18	0.71444	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.64830	0.974;0.962;0.994;0.962	P;P;D;P	0.63192	0.725;0.5;0.912;0.868	T	0.79125	-0.1932	10	0.66056	D	0.02	.	15.039	0.71774	1.0:0.0:0.0:0.0	.	292;269;321;272	Q8TBW1;G5E9G0;P39023;B3KS36	.;.;RL3_HUMAN;.	D	269;321;269	ENSP00000386101:V269D;ENSP00000346001:V321D;ENSP00000385762:V269D	ENSP00000346001:V321D	V	-	2	0	RPL3	38039670	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.570000	0.82390	1.968000	0.57251	0.459000	0.35465	GTC		0.587	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		T	39709724	A	T	39709724	3	4	217	1	0	0	0	0	1	0	0	0	13585	275	10	5	261	5	RPL3	22	39709724	Missense_Mutation	SNP	A	TCGA-B0-5699-01A-11D-1534-10		39709724	11594842	46	13160											
SLC25A6	293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1505637	1505637	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chrX:1505637G>A	ENST00000381401.5	-	4	1469	c.755C>T	c.(754-756)aCg>aTg	p.T252M	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	252					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)	p.T252M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GACGGTGCCCGTGTACATGAT	0.612																																																1	Substitution - Missense(1)	kidney(1)											282	246	258					X																	1505637		2203	4296	6499	SO:0001583	missense	293			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.755C>T	X.37:g.1505637G>A	ENSP00000370808:p.Thr252Met		Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.763918	0.31228	.	.	ENSG00000169100	ENST00000381401	T	0.80123	-1.34	1.82	-3.63	0.04529	Mitochondrial carrier domain (2);	0.464398	0.15260	U	0.271823	D	0.87188	0.6115	H	0.95437	3.67	0.09310	N	1	D	0.55385	0.971	P	0.53224	0.721	T	0.81138	-0.1069	10	0.87932	D	0	.	7.2021	0.25887	0.0:0.4267:0.2813:0.292	.	252	P12236	ADT3_HUMAN	M	252	ENSP00000370808:T252M	ENSP00000370808:T252M	T	-	2	0	SLC25A6	1465637	0.139000	0.22563	0.001000	0.08648	0.691000	0.40173	0.136000	0.15974	-2.485000	0.00520	-0.894000	0.02916	ACG		0.612	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		A	1505637	G	A	1505637	3	1	217	1	0	0	0	0	1	0	0	0	14519	1145	40	1	145	1	SLC25A6	23	1505637	Missense_Mutation	SNP	G	TCGA-B0-5699-01A-11D-1534-10		1505637	153764923	47	13161											
MAGEC1	9947	hgsc.bcm.edu	37	X	140993904	140993906	+	In_Frame_Del	DEL	CCC	CCC	-	rs146816736|rs176040	byFrequency	TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chrX:140993904_140993906delCCC	ENST00000285879.4	+	4	1000_1002	c.714_716delCCC	c.(712-717)agcccc>agc	p.P239del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	239				P -> S (in Ref. 1 and 2). {ECO:0000305}.				p.P239S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCCCCTCCTCCTCC	0.478										HNSCC(15;0.026)																																						2	Substitution - Missense(2)	stomach(2)																																								SO:0001651	inframe_deletion	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.714_716delCCC	X.37:g.140993904_140993906delCCC	ENSP00000285879:p.Pro239del		A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	CCDS35417.1																																																																																				0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		-	140993906	CCC	-	140993904	7	5	217	1	0	1	0	1	0	0	0	0	9182	738	26	0	720	0	MAGEC1	23	140993904	In_Frame_Del	DEL	CCC	TCGA-B0-5699-01A-11D-1534-10	139488267	140993904	14276656	48	13162											
VHL	7428	hgsc.bcm.edu	37	3	10183768	10183769	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5699-01A-11W-1584-10	TCGA-B0-5699-11A-01W-1584-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	97ea3c2a-a6b9-4d97-bc69-a6e11f187783	b795c8fc-7d51-494c-87c6-a891ad423312	g.chr3:10183768_10183769insT	ENST00000256474.2	+	1	1077_1078	c.237_238insT	c.(238-240)agtfs	p.S80fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.S80fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	80			S -> I (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|S -> N (in pheochromocytoma and VHLD; type I; dbSNP:rs5030805). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S72_V87>L(1)|p.S80fs*73(1)|p.R79R(1)|p.R60fs*35(1)|p.R79P(1)|p.S80R(1)|p.C77_R79del(1)|p.N78fs*80(1)|p.V74fs*77(1)|p.R79_P81>P(1)|p.R79fs*88(1)|p.R79fs*52(1)|p.N78fs*50(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCTGCAATCGCAGTCCGCGCGT	0.713		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	13	Deletion - Frameshift(6)|Complex - deletion inframe(2)|Substitution - Missense(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - coding silent(1)	kidney(13)	GRCh37	CM023993|CM971567	VHL	M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	Exception_encountered	3.37:g.10183768_10183769insT	ENSP00000256474:p.Ser80fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.713	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183769	-	T	10183768	7	5	218	1	0	1	1	0	0	0	0	0	17167	697	25	0	239	0	VHL	3	10183768	Frame_Shift_Ins	INS	-	TCGA-B0-5699-01A-11W-1584-10		10183768	187838662	1	13163	98	2									
VHL	7428	hgsc.bcm.edu	37	3	10183770	10183773	+	Frame_Shift_Del	DEL	GTCC	GTCC	-	rs193922608|rs104893829|rs5030805		TCGA-B0-5699-01A-11W-1584-10	TCGA-B0-5699-11A-01W-1584-10	GTCC	GTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	97ea3c2a-a6b9-4d97-bc69-a6e11f187783	b795c8fc-7d51-494c-87c6-a891ad423312	g.chr3:10183770_10183773delGTCC	ENST00000256474.2	+	1	1079_1082	c.239_242delGTCC	c.(238-243)agtccgfs	p.SP80fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.SP80fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	80			S -> I (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|S -> N (in pheochromocytoma and VHLD; type I; dbSNP:rs5030805). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P81S(14)|p.S80R(13)|p.S80N(4)|p.P81fs*78(2)|p.S72_V87>L(1)|p.P81fs*49(1)|p.P81T(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.S80_P81>T(1)|p.R82fs*75(1)|p.V74fs*77(1)|p.R79_P81>P(1)|p.N78fs*50(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCAATCGCAGTCCGCGCGTCGTG	0.711		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	43	Substitution - Missense(32)|Deletion - Frameshift(8)|Complex - deletion inframe(3)	kidney(40)|pancreas(3)	GRCh37	CD951872|CM941367|CM951273|CM951274|CM961418	VHL	D|M	rs104893829|rs5030805																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.239_242delGTCC	3.37:g.10183770_10183773delGTCC	ENSP00000256474:p.Ser80fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.711	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183773	GTCC	-	10183770	7	5	218	1	0	1	0	1	0	0	0	0	17167	1029	36	0	241	0	VHL	3	10183770	Frame_Shift_Del	DEL	GTCC	TCGA-B0-5699-01A-11W-1584-10	2	10183770	187838660	2	13164	98	2									
MTOR	2475	broad.mit.edu;ucsc.edu	37	1	11217299	11217299	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:11217299A>G	ENST00000361445.4	-	30	4455	c.4379T>C	c.(4378-4380)cTt>cCt	p.L1460P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1460	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L1460P(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATAGGCCACAAGGGCATCCTC	0.547																																																2	Substitution - Missense(2)	kidney(2)											165	135	145					1																	11217299		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4379T>C	1.37:g.11217299A>G	ENSP00000354558:p.Leu1460Pro		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926312	0.73327	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	D	0.81659	-1.52	5.69	4.55	0.56014	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.83862	0.5346	M	0.91406	3.205	0.80722	D	1	P	0.48407	0.91	B	0.41271	0.352	D	0.85851	0.1404	10	0.87932	D	0	.	12.0845	0.53690	0.8709:0.0:0.0:0.1291	.	1460	P42345	MTOR_HUMAN	P	1460	ENSP00000354558:L1460P	ENSP00000354558:L1460P	L	-	2	0	MTOR	11139886	1.000000	0.71417	0.028000	0.17463	0.806000	0.45545	8.871000	0.92346	0.955000	0.37878	0.533000	0.62120	CTT		0.547	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11217299	A	G	11217299	3	3	219	1	0	0	0	0	1	0	0	0	9956	72	3	3	3386	3	MTOR	1	11217299	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10		11217299	238033322	1	13165											
TAS1R2	80834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19180859	19180859	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:19180859C>T	ENST00000375371.3	-	3	1126	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	369					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.A369T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GACAAGGTGGCGTTCAGGCAG	0.622																																																1	Substitution - Missense(1)	kidney(1)											127	113	118					1																	19180859		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1105G>A	1.37:g.19180859C>T	ENSP00000364520:p.Ala369Thr		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.000666	0.00431	.	.	ENSG00000179002	ENST00000375371	D	0.88896	-2.44	4.58	-6.1	0.02138	Extracellular ligand-binding receptor (1);	1.625990	0.04010	N	0.298062	T	0.66896	0.2836	N	0.00926	-1.1	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.62714	-0.6796	10	0.14252	T	0.57	.	9.1914	0.37202	0.1354:0.6073:0.0:0.2573	.	369	Q8TE23	TS1R2_HUMAN	T	369	ENSP00000364520:A369T	ENSP00000364520:A369T	A	-	1	0	TAS1R2	19053446	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.339000	0.02652	-1.132000	0.02907	-1.401000	0.01141	GCC		0.622	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19180859	C	T	19180859	3	4	219	1	0	0	0	0	1	0	0	0	15568	768	27	1	1430	1	TAS1R2	1	19180859	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	7963560	19180859	230069762	2	13166											
EIF2C3	192669	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36411321	36411321	+	Missense_Mutation	SNP	G	G	A	rs372140569		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:36411321G>A	ENST00000373191.4	+	2	397	c.48G>A	c.(46-48)atG>atA	p.M16I	AGO3_ENST00000246314.6_De_novo_Start_InFrame|AGO3_ENST00000397828.2_Missense_Mutation_p.M16I|AGO3_ENST00000324350.5_Missense_Mutation_p.M16I	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	16					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.M16I(1)									CCCTACTCATGGTGCCCAGAA	0.488																																																1	Substitution - Missense(1)	kidney(1)						G	ILE/MET,	1,4405	2.1+/-5.4	0,1,2202	86	100	95		48,	4.3	1	1		95	0,8600		0,0,4300	no	missense,utr-5	EIF2C3	NM_024852.3,NM_177422.2	10,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,	16/861,	36411321	1,13005	2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.48G>A	1.37:g.36411321G>A	ENSP00000362287:p.Met16Ile		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062948	0.36373	2.27E-4	0.0	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T	0.08984	3.03	6.17	4.3	0.51218	.	0.167637	0.64402	N	0.000004	T	0.06371	0.0164	N	0.19112	0.55	0.36893	D	0.889993	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.25222	-1.0138	10	0.37606	T	0.19	-10.3744	12.1151	0.53860	0.0644:0.1216:0.814:0.0	.	16;16	Q9H9G7;Q5TA56	AGO3_HUMAN;.	I	16	ENSP00000362287:M16I	ENSP00000317425:M16I	M	+	3	0	EIF2C3	36183908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.294000	0.43567	0.926000	0.37118	0.655000	0.94253	ATG		0.488	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		A	36411321	G	A	36411321	3	1	219	1	0	0	0	0	1	0	0	0	5009	1348	47	2	54	2	EIF2C3	1	36411321	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	17230462	36411321	212839300	3	13167											
PTCH2	8643	broad.mit.edu;hgsc.bcm.edu	37	1	45288276	45288276	+	Silent	SNP	A	A	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:45288276A>T	ENST00000372192.3	-	22	3553	c.3423T>A	c.(3421-3423)ctT>ctA	p.L1141L	RNU5E-6P_ENST00000365574.1_RNA|PTCH2_ENST00000447098.2_Silent_p.L1141L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1141					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.L1141L(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCCCCACCTAAGCCCGCCTC	0.632									Basal Cell Nevus syndrome																																							1	Substitution - coding silent(1)	kidney(1)											83	90	88					1																	45288276		2203	4300	6503	SO:0001819	synonymous_variant	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3423T>A	1.37:g.45288276A>T			O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	a	0.730	-0.780260	0.02929	.	.	ENSG00000117425	ENST00000438067	.	.	.	4.25	0.0333	0.14179	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.8251	2.2727	0.04095	0.1683:0.2739:0.4175:0.1403	.	.	.	.	K	62	.	.	X	-	1	0	PTCH2	45060863	0.074000	0.21230	0.999000	0.59377	0.085000	0.17905	0.375000	0.20518	0.101000	0.17610	-2.507000	0.00189	TAG		0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		T	45288276	A	T	45288276	2	4	219	1	0	0	0	0	0	0	0	1	12736	349	13	5		5	PTCH2	1	45288276	Silent	SNP	A	TCGA-B0-5701-01A-11D-1534-10	8876955	45288276	203962345	4	13168											
RAD54L	8438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46714224	46714224	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:46714224C>A	ENST00000371975.4	+	2	718	c.44C>A	c.(43-45)cCt>cAt	p.P15H	RAD54L_ENST00000442598.1_Missense_Mutation_p.P15H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	15					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P15H(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGAGAAAACCTGAAGGCAGG	0.547								Direct reversal of damage;Homologous recombination																																								1	Substitution - Missense(1)	kidney(1)											67	70	69					1																	46714224		2203	4300	6503	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.44C>A	1.37:g.46714224C>A	ENSP00000361043:p.Pro15His		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623592	0.28889	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.88277	-2.36;-2.36	5.69	4.78	0.61160	.	0.487586	0.23314	N	0.049526	T	0.78123	0.4234	N	0.08118	0	0.29560	N	0.850697	B	0.25272	0.122	B	0.22601	0.04	T	0.73300	-0.4026	10	0.45353	T	0.12	-7.8326	12.9196	0.58224	0.0:0.9243:0.0:0.0757	.	15	Q92698	RAD54_HUMAN	H	15	ENSP00000396113:P15H;ENSP00000361043:P15H	ENSP00000361043:P15H	P	+	2	0	RAD54L	46486811	0.663000	0.27448	0.178000	0.23040	0.026000	0.11368	1.527000	0.35975	1.548000	0.49413	0.655000	0.94253	CCT		0.547	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		A	46714224	C	A	46714224	3	1	219	1	0	0	0	0	1	0	0	0	12999	681	24	4	50	4	RAD54L	1	46714224	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	1425948	46714224	202536397	5	13169											
SASS6	163786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100572485	100572485	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:100572485A>T	ENST00000287482.5	-	12	1531	c.1391T>A	c.(1390-1392)cTa>cAa	p.L464Q	SASS6_ENST00000535161.1_Missense_Mutation_p.L297Q|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	464					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.L464Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATTATTTTTTAGAAGTTGTTT	0.294																																																1	Substitution - Missense(1)	kidney(1)											76	76	76					1																	100572485		2190	4293	6483	SO:0001583	missense	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1391T>A	1.37:g.100572485A>T	ENSP00000287482:p.Leu464Gln		D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.343752	0.82022	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.63580	2.33;-0.05	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.78637	2.42	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.79647	-0.1716	10	0.72032	D	0.01	-8.3752	16.2348	0.82365	1.0:0.0:0.0:0.0	.	464	Q6UVJ0	SAS6_HUMAN	Q	464;437;297	ENSP00000287482:L464Q;ENSP00000440169:L297Q	ENSP00000287482:L464Q	L	-	2	0	SASS6	100345073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.652000	0.83633	2.229000	0.72834	0.477000	0.44152	CTA		0.294	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		T	100572485	A	T	100572485	3	4	219	1	0	0	0	0	1	0	0	0	13856	420	15	5	606	5	SASS6	1	100572485	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10	53858261	100572485	148678136	6	13170											
NOTCH2	4853	hgsc.bcm.edu;ucsc.edu	37	1	120480035	120480035	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:120480035delT	ENST00000256646.2	-	21	3611	c.3392delA	c.(3391-3393)aacfs	p.N1131fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1131	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAATGCGTGTTGCCAGCATT	0.542			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													76	64	68					1																	120480035		2203	4300	6503	SO:0001589	frameshift_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3392delA	1.37:g.120480035delT	ENSP00000256646:p.Asn1131fs		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	CCDS908.1																																																																																				0.542	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		-	120480035	T	-	120480035	7	5	219	1	0	1	0	1	0	0	0	0	10550	1725	60	0	4079	0	NOTCH2	1	120480035	Frame_Shift_Del	DEL	T	TCGA-B0-5701-01A-11D-1534-10	19907550	120480035	128770586	7	13171											
PDE4DIP	9659	broad.mit.edu	37	1	144923791	144923791	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:144923791T>G	ENST00000369354.3	-	6	856	c.667A>C	c.(667-669)Aag>Cag	p.K223Q	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K223Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.K360Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K360Q|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.K386Q|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.K223Q|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.K10Q|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.K386Q|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.K223Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K289Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	223					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.K223Q(2)|p.K386Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAATTCAGCTTTTGTTGTTTC	0.428			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	3	Substitution - Missense(3)	kidney(3)											249	224	233					1																	144923791		2203	4300	6503	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.667A>C	1.37:g.144923791T>G	ENSP00000358360:p.Lys223Gln		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	6.517	0.463637	0.12402	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12039	4.65;4.74;4.74;4.75;4.75;3.74;3.74;2.76;2.76;2.72	5.89	4.77	0.60923	.	.	.	.	.	T	0.03608	0.0103	L	0.45581	1.43	0.20975	N	0.999819	B;B;B;B;P	0.44627	0.053;0.279;0.134;0.289;0.839	B;B;B;B;B	0.35971	0.013;0.124;0.027;0.051;0.215	T	0.32561	-0.9902	9	0.34782	T	0.22	.	2.9336	0.05808	0.2142:0.1258:0.0:0.66	.	386;223;386;289;223	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	Q	289;223;223;386;360;360;223;223;386;386;10	ENSP00000327209:K289Q;ENSP00000358360:K223Q;ENSP00000358363:K223Q;ENSP00000435654:K360Q;ENSP00000358366:K360Q;ENSP00000358357:K223Q;ENSP00000358355:K223Q;ENSP00000316434:K386Q;ENSP00000433392:K386Q;ENSP00000436791:K10Q	ENSP00000327209:K289Q	K	-	1	0	PDE4DIP	143635148	0.962000	0.33011	0.139000	0.22197	0.143000	0.21401	1.457000	0.35212	2.254000	0.74563	0.459000	0.35465	AAG		0.428	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		G	144923791	T	G	144923791	3	3	219	1	0	0	0	0	1	0	0	0	11645	1850	64	5	6539	5	PDE4DIP	1	144923791	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	24443756	144923791	104326830	8	13172											
DCST1	149095	hgsc.bcm.edu	37	1	155023256	155023256	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:155023256G>A	ENST00000295542.1	+	17	2129	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	ADAM15_ENST00000368413.1_5'Flank|ADAM15_ENST00000356955.2_5'Flank|ADAM15_ENST00000360674.4_5'Flank|ADAM15_ENST00000447332.3_5'Flank|ADAM15_ENST00000449910.2_5'Flank|ADAM15_ENST00000531455.1_5'Flank|ADAM15_ENST00000271836.6_5'Flank|ADAM15_ENST00000368410.2_5'Flank|ADAM15_ENST00000355956.2_5'Flank|DCST1_ENST00000423025.2_Missense_Mutation_p.R653Q|ADAM15_ENST00000359280.4_5'Flank|ADAM15_ENST00000368412.3_5'Flank	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	678						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GACGACATGCGGCAGCGGTGC	0.677											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													28	28	28					1																	155023256		2202	4300	6502	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.2033G>A	1.37:g.155023256G>A	ENSP00000295542:p.Arg678Gln	1767	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966146	0.53507	.	.	ENSG00000163357	ENST00000295542;ENST00000423025	T;T	0.20881	2.05;2.04	5.22	0.533	0.17121	Zinc finger, RING-type (2);	0.705821	0.12846	N	0.434410	T	0.02494	0.0076	N	0.17474	0.49	0.26847	N	0.968244	B;B	0.18166	0.026;0.026	B;B	0.08055	0.003;0.002	T	0.46541	-0.9184	10	0.12103	T	0.63	-13.0835	4.0722	0.09887	0.3846:0.0:0.4526:0.1628	.	653;678	E9PHV3;Q5T197	.;DCST1_HUMAN	Q	678;653	ENSP00000295542:R678Q;ENSP00000387369:R653Q	ENSP00000295542:R678Q	R	+	2	0	DCST1	153289880	0.028000	0.19301	0.988000	0.46212	0.976000	0.68499	-0.053000	0.11846	0.191000	0.20236	-0.182000	0.12963	CGG		0.677	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		A	155023256	G	A	155023256	3	1	219	1	0	0	0	0	1	0	0	0	4304	1116	39	1	2095	1	DCST1	1	155023256	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	10099465	155023256	94227365	9	13173											
IGFN1	91156	hgsc.bcm.edu;ucsc.edu	37	1	201176095	201176095	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:201176095C>G	ENST00000335211.4	+	12	2204	c.2074C>G	c.(2074-2076)Cct>Gct	p.P692A	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGCATGGCCCCTGAATCCTG	0.597																																																0													51	53	52					1																	201176095		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.2074C>G	1.37:g.201176095C>G	ENSP00000334714:p.Pro692Ala		F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579375	0.28180	.	.	ENSG00000163395	ENST00000335211	T	0.76839	-1.05	4.14	2.14	0.27477	.	.	.	.	.	T	0.53834	0.1821	N	0.08118	0	0.09310	N	0.999995	.	.	.	.	.	.	T	0.42207	-0.9465	6	.	.	.	.	4.8905	0.13724	0.2086:0.6782:0.0:0.1132	.	.	.	.	A	692	ENSP00000334714:P692A	.	P	+	1	0	IGFN1	199442718	0.075000	0.21258	0.006000	0.13384	0.056000	0.15407	0.312000	0.19397	0.957000	0.37930	0.655000	0.94253	CCT		0.597	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		G	201176095	C	G	201176095	3	3	219	1	0	0	0	0	1	0	0	0	7592	623	22	4	2116	4	IGFN1	1	201176095	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	46152839	201176095	48074526	10	13174											
NAV1	89796	hgsc.bcm.edu	37	1	201772833	201772833	+	Silent	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:201772833A>G	ENST00000367296.4	+	16	4050	c.3630A>G	c.(3628-3630)aaA>aaG	p.K1210K	NAV1_ENST00000367302.1_Silent_p.K1166K|NAV1_ENST00000367300.3_Silent_p.K1153K|NAV1_ENST00000295624.6_Silent_p.K1210K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Silent_p.K1202K|NAV1_ENST00000367295.1_Silent_p.K819K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1210					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGAAGAAAAAAAAGAGTTGGG	0.493																																																0													53	50	51					1																	201772833		2203	4300	6503	SO:0001819	synonymous_variant	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3630A>G	1.37:g.201772833A>G			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	A	10.97	1.502324	0.26949	.	.	ENSG00000134369	ENST00000438083	D	0.94138	-3.36	5.15	-8.85	0.00799	.	0.106864	0.64402	D	0.000008	D	0.92694	0.7678	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.89868	0.4021	7	0.34782	T	0.22	-7.7561	15.5885	0.76506	0.163:0.0:0.7314:0.1056	.	.	.	.	R	193	ENSP00000389123:K193R	ENSP00000389123:K193R	K	+	2	0	NAV1	200039456	0.998000	0.40836	0.319000	0.25293	0.990000	0.78478	0.411000	0.21115	-1.997000	0.00969	0.456000	0.33151	AAA		0.493	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		G	201772833	A	G	201772833	2	3	219	1	0	0	0	0	0	0	0	1	10185	11	1	3		3	NAV1	1	201772833	Silent	SNP	A	TCGA-B0-5701-01A-11D-1534-10	596738	201772833	47477788	11	13175											
TFB2M	64216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	246707837	246707837	+	Silent	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:246707837T>C	ENST00000366514.4	-	7	1190	c.1005A>G	c.(1003-1005)gtA>gtG	p.V335V		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	335					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.V335V(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGTGGTCTATTACAGTGGCGC	0.328																																																1	Substitution - coding silent(1)	kidney(1)											89	95	93					1																	246707837		2203	4300	6503	SO:0001819	synonymous_variant	64216			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1005A>G	1.37:g.246707837T>C			Q9H626	Silent	SNP	ENST00000366514.4	37	CCDS1627.1																																																																																				0.328	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		C	246707837	T	C	246707837	2	2	219	1	0	0	0	0	0	0	0	1	15799	1741	61	3		3	TFB2M	1	246707837	Silent	SNP	T	TCGA-B0-5701-01A-11D-1534-10	44935004	246707837	2542784	12	13176											
MYT1L	23040	hgsc.bcm.edu	37	2	1946773	1946773	+	Silent	SNP	C	C	T	rs148009982	byFrequency	TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:1946773C>T	ENST00000399161.2	-	9	1233	c.486G>A	c.(484-486)gaG>gaA	p.E162E	MYT1L_ENST00000428368.2_Silent_p.E162E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	162	Asp/Glu-rich.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		cttcctcttcctcctcctcct	0.483																																																0													53	54	54					2																	1946773		2039	3950	5989	SO:0001819	synonymous_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.486G>A	2.37:g.1946773C>T			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37																																																																																					0.483	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1946773	C	T	1946773	2	4	219	1	0	0	0	0	0	0	0	1	10109	680	24	2		2	MYT1L	2	1946773	Silent	SNP	C	TCGA-B0-5701-01A-11D-1534-10		1946773	241252600	13	13177											
KIDINS220	57498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	8890360	8890360	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:8890360G>T	ENST00000256707.3	-	24	3477	c.3296C>A	c.(3295-3297)cCa>cAa	p.P1099Q	KIDINS220_ENST00000427284.1_Missense_Mutation_p.P1099Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.P1057Q|KIDINS220_ENST00000473731.1_Missense_Mutation_p.P1099Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1099					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.P1099Q(1)|p.P1099L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCACACGGATGGGGGCTGGCT	0.622																																																2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)											73	76	75					2																	8890360		2005	4171	6176	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3296C>A	2.37:g.8890360G>T	ENSP00000256707:p.Pro1099Gln		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140742	0.37825	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.66995	0.81;-0.21;-0.17;-0.13;-0.17;-0.24	5.79	4.88	0.63580	.	0.442134	0.26719	N	0.022852	T	0.51975	0.1706	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.22480	0.055;0.003;0.023;0.07;0.023	B;B;B;B;B	0.30716	0.017;0.017;0.102;0.119;0.056	T	0.53878	-0.8376	10	0.56958	D	0.05	.	16.9108	0.86139	0.0:0.1275:0.8725:0.0	.	1100;1100;783;1057;1099	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	Q	846;783;1099;1099;1057;1099;1100;108	ENSP00000420364:P846Q;ENSP00000256707:P1099Q;ENSP00000411849:P1099Q;ENSP00000414923:P1057Q;ENSP00000418974:P1099Q;ENSP00000419964:P1100Q	ENSP00000256707:P1099Q	P	-	2	0	KIDINS220	8807811	1.000000	0.71417	0.021000	0.16686	0.120000	0.20174	7.624000	0.83124	2.733000	0.93635	0.655000	0.94253	CCA		0.622	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		T	8890360	G	T	8890360	3	4	219	1	0	0	0	0	1	0	0	0	8273	1348	47	4	2047	4	KIDINS220	2	8890360	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	6943587	8890360	234309013	14	13178											
LRPPRC	10128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44176772	44176772	+	Silent	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:44176772T>A	ENST00000260665.7	-	16	1761	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	568					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.G568G(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGCAATAACGTCCATCCTTGT	0.398																																																1	Substitution - coding silent(1)	kidney(1)											78	69	72					2																	44176772		2203	4300	6503	SO:0001819	synonymous_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1704A>T	2.37:g.44176772T>A			A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	CCDS33189.1																																																																																				0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		A	44176772	T	A	44176772	2	1	219	1	0	0	0	0	0	0	0	1	8967	1654	58	5		5	LRPPRC	2	44176772	Silent	SNP	T	TCGA-B0-5701-01A-11D-1534-10	35286412	44176772	199022601	15	13179											
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152476170	152476170	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:152476170T>C	ENST00000172853.10	-	69	10085	c.9938A>G	c.(9937-9939)cAg>cGg	p.Q3313R	NEB_ENST00000397345.3_Missense_Mutation_p.Q3556R|NEB_ENST00000603639.1_Missense_Mutation_p.Q3556R|NEB_ENST00000604864.1_Missense_Mutation_p.Q3556R|NEB_ENST00000427231.2_Missense_Mutation_p.Q3556R|NEB_ENST00000409198.1_Missense_Mutation_p.Q3313R			P20929	NEBU_HUMAN	nebulin	3313					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q3313R(1)|p.Q3556R(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACGGTCACTCTGCACTTTGGC	0.478																																																2	Substitution - Missense(2)	kidney(2)											116	116	116					2																	152476170		1991	4171	6162	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9938A>G	2.37:g.152476170T>C	ENSP00000172853:p.Gln3313Arg		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	15.46	2.840007	0.51057	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.67	4.5	0.54988	.	0.264911	0.37577	N	0.002039	T	0.56645	0.1999	M	0.77313	2.365	0.80722	D	1	P	0.34615	0.459	B	0.38880	0.284	T	0.56232	-0.8013	10	0.38643	T	0.18	.	12.3463	0.55122	0.1267:0.0:0.0:0.8733	.	3313	P20929	NEBU_HUMAN	R	3313;3556;3556;3313	ENSP00000386259:Q3313R;ENSP00000380505:Q3556R;ENSP00000416578:Q3556R;ENSP00000172853:Q3313R	ENSP00000172853:Q3313R	Q	-	2	0	NEB	152184416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.177000	0.42509	1.051000	0.40369	0.533000	0.62120	CAG		0.478	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152476170	T	C	152476170	3	2	219	1	0	0	0	0	1	0	0	0	10304	1580	55	3	15459	3	NEB	2	152476170	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	108299398	152476170	90723203	16	13180											
TTN	7273	broad.mit.edu;ucsc.edu	37	2	179435409	179435409	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:179435409C>T	ENST00000591111.1	-	276	70751	c.70527G>A	c.(70525-70527)caG>caA	p.Q23509Q	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.Q25150Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Q22582Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Q16210Q|TTN_ENST00000460472.2_Silent_p.Q16085Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Q16277Q			Q8WZ42	TITIN_HUMAN	titin	23509	Ig-like 119.				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)	p.Q16210Q(1)|p.Q22582Q(1)|p.Q22580Q(1)|p.Q16085Q(1)|p.Q16277Q(1)		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)			TTGAAAGCTCCTGATCACCTT	0.413																																																5	Substitution - coding silent(5)	kidney(5)											207	187	193					2																	179435409		1922	4116	6038	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70527G>A	2.37:g.179435409C>T			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179435409	C	T	179435409	2	4	219	1	0	0	0	0	0	0	0	1	16740	680	24	2		2	TTN	2	179435409	Silent	SNP	C	TCGA-B0-5701-01A-11D-1534-10	26959239	179435409	63763964	17	13181											
ASNSD1	54529	broad.mit.edu;ucsc.edu	37	2	190532496	190532496	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:190532496C>G	ENST00000260952.4	+	5	1884	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	ASNSD1_ENST00000607062.1_Missense_Mutation_p.L10V	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	491	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.L491V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			ATAGGTAGTTCTCACTGGAAT	0.358																																																1	Substitution - Missense(1)	kidney(1)											89	91	90					2																	190532496		2203	4300	6503	SO:0001583	missense	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1471C>G	2.37:g.190532496C>G	ENSP00000260952:p.Leu491Val		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369704	0.61624	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.69806	-0.43;-0.43	5.18	5.18	0.71444	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.068070	0.64402	D	0.000010	D	0.85548	0.5722	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88139	0.2843	10	0.59425	D	0.04	-7.0427	18.6908	0.91582	0.0:1.0:0.0:0.0	.	491	Q9NWL6	ASND1_HUMAN	V	491	ENSP00000260952:L491V;ENSP00000406790:L491V	ENSP00000260952:L491V	L	+	1	0	ASNSD1	190240741	1.000000	0.71417	0.905000	0.35620	0.967000	0.64934	3.689000	0.54706	2.406000	0.81754	0.561000	0.74099	CTC		0.358	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		G	190532496	C	G	190532496	3	3	219	1	0	0	0	0	1	0	0	0	1049	913	32	4	1477	4	ASNSD1	2	190532496	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	11097087	190532496	52666877	18	13182											
ATG4B	23192	broad.mit.edu;hgsc.bcm.edu	37	2	242606247	242606247	+	Silent	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:242606247G>T	ENST00000404914.3	+	8	829	c.726G>T	c.(724-726)acG>acT	p.T242T	ATG4B_ENST00000402096.1_Silent_p.T168T|ATG4B_ENST00000474739.2_Silent_p.T228T|ATG4B_ENST00000396411.3_Silent_p.T168T|ATG4B_ENST00000405546.3_Silent_p.T242T	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	242					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)	p.T242T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		ACGTGGAGACGCTGAAGGTGG	0.622																																					Melanoma(78;458 1323 6342 12171 39523)											1	Substitution - coding silent(1)	kidney(1)											24	26	25					2																	242606247		2132	4209	6341	SO:0001819	synonymous_variant	23192			AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"APG4 autophagy 4 homolog B (S. cerevisiae)", "ATG4 autophagy related 4 homolog B (S. cerevisiae)"	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.726G>T	2.37:g.242606247G>T			B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Silent	SNP	ENST00000404914.3	37	CCDS46564.1																																																																																				0.622	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325		T	242606247	G	T	242606247	2	4	219	1	0	0	0	0	0	0	0	1	1097	1074	38	4		4	ATG4B	2	242606247	Silent	SNP	G	TCGA-B0-5701-01A-11D-1534-10	52073751	242606247	593126	19	13183											
PTH1R	5745	broad.mit.edu;ucsc.edu	37	3	46939429	46939429	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:46939429A>G	ENST00000313049.5	+	4	601	c.398A>G	c.(397-399)gAc>gGc	p.D133G	PTH1R_ENST00000430002.2_Missense_Mutation_p.D133G|PTH1R_ENST00000418619.1_Missense_Mutation_p.D133G|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Missense_Mutation_p.D133G			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	133					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)	p.D133G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CCCTGTCCGGACTACATTTAT	0.612																																																1	Substitution - Missense(1)	kidney(1)											63	63	63					3																	46939429		2203	4300	6503	SO:0001583	missense	5745				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.398A>G	3.37:g.46939429A>G	ENSP00000321999:p.Asp133Gly		Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778190	0.49786	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.24	5.24	0.73138	GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.40322	0.1112	N	0.25332	0.735	0.51233	D	0.999911	B	0.09022	0.002	B	0.15052	0.012	T	0.20405	-1.0276	9	0.33141	T	0.24	.	13.1052	0.59244	1.0:0.0:0.0:0.0	.	133	Q03431	PTH1R_HUMAN	G	133	ENSP00000402723:D133G;ENSP00000411424:D133G;ENSP00000400977:D133G;ENSP00000413774:D133G;ENSP00000321999:D133G	ENSP00000321999:D133G	D	+	2	0	PTH1R	46914433	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.167000	0.77562	1.983000	0.57843	0.459000	0.35465	GAC		0.612	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		G	46939429	A	G	46939429	3	3	219	1	0	0	0	0	1	0	0	0	12764	275	10	3	412	3	PTH1R	3	46939429	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10		46939429	151083001	20	13184											
ALAS1	211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52233311	52233311	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:52233311T>G	ENST00000394965.2	+	3	414	c.54T>G	c.(52-54)ttT>ttG	p.F18L	ALAS1_ENST00000310271.2_Missense_Mutation_p.F18L|ALAS1_ENST00000469224.1_Missense_Mutation_p.F18L|ALAS1_ENST00000484952.1_Missense_Mutation_p.F18L	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	18					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.F18L(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CCCAGGCCTTTCTGCAGAAAG	0.542																																																1	Substitution - Missense(1)	kidney(1)											70	67	68					3																	52233311		2203	4300	6503	SO:0001583	missense	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.54T>G	3.37:g.52233311T>G	ENSP00000378416:p.Phe18Leu			Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.822304	0.50739	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000441729;ENST00000310271;ENST00000484952	D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63	5.03	3.87	0.44632	5-aminolevulinate synthase presequence (1);	0.049440	0.85682	D	0.000000	D	0.94925	0.8359	L	0.57536	1.79	0.48452	D	0.999653	B;B	0.18741	0.03;0.03	B;B	0.24006	0.05;0.029	D	0.89077	0.3473	10	0.17369	T	0.5	-18.9771	5.9277	0.19122	0.0:0.3299:0.0:0.6701	.	35;18	B4DVA0;P13196	.;HEM1_HUMAN	L	18	ENSP00000417719:F18L;ENSP00000378416:F18L;ENSP00000309259:F18L;ENSP00000418779:F18L	ENSP00000309259:F18L	F	+	3	2	ALAS1	52208351	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.864000	0.27926	0.761000	0.33130	0.528000	0.53228	TTT		0.542	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			G	52233311	T	G	52233311	3	3	219	1	0	0	0	0	1	0	0	0	484	1780	62	5	56	5	ALAS1	3	52233311	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	5293882	52233311	145789119	21	13185											
EPHA6	285220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	96533798	96533798	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:96533798T>A	ENST00000389672.5	+	1	369	c.331T>A	c.(331-333)Ttg>Atg	p.L111M	EPHA6_ENST00000470610.2_Missense_Mutation_p.L111M|EPHA6_ENST00000542517.1_Missense_Mutation_p.L17M	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	17	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.L17M(2)|p.L111M(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGGTTTCTTCTTGCCTCTGCT	0.587																																																3	Substitution - Missense(3)	kidney(3)											12	14	13					3																	96533798		1857	4004	5861	SO:0001583	missense	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.331T>A	3.37:g.96533798T>A	ENSP00000374323:p.Leu111Met		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.41|15.41	2.825507|2.825507	0.50739|0.50739	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000506569|ENST00000470610;ENST00000389672;ENST00000542517	.|T;T;T	.|0.78481	.|4.68;-1.18;4.2	5.15|5.15	2.77|2.77	0.32553|0.32553	.|.	.|.	.|.	.|.	.|.	T|T	0.54303|0.54303	0.1850|0.1850	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;P	.|0.37864	.|0.172;0.61	.|B;B	.|0.34991	.|0.093;0.193	T|T	0.48399|0.48399	-0.9039|-0.9039	5|9	.|0.45353	.|T	.|0.12	.|.	6.7845|6.7845	0.23665|0.23665	0.0:0.1895:0.0:0.8105|0.0:0.1895:0.0:0.8105	.|.	.|111;111	.|B3KS12;E7EU71	.|.;.	H|M	55|111;111;17	.|ENSP00000420598:L111M;ENSP00000374323:L111M;ENSP00000439758:L17M	.|ENSP00000374323:L111M	L|L	+|+	2|1	0|2	EPHA6|EPHA6	98016488|98016488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.585000|0.585000	0.36419|0.36419	1.725000|1.725000	0.38074|0.38074	0.296000|0.296000	0.22592|0.22592	-0.376000|-0.376000	0.06991|0.06991	CTT|TTG		0.587	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		A	96533798	T	A	96533798	3	1	219	1	0	0	0	0	1	0	0	0	5173	1606	56	5	333	5	EPHA6	3	96533798	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	44300487	96533798	101488632	22	13186											
BBX	56987	broad.mit.edu;ucsc.edu	37	3	107463494	107463494	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:107463494C>T	ENST00000325805.8	+	8	974	c.687C>T	c.(685-687)tgC>tgT	p.C229C	BBX_ENST00000402543.1_Silent_p.C229C|BBX_ENST00000406780.1_Silent_p.C229C|BBX_ENST00000415149.2_Silent_p.C229C|BBX_ENST00000416476.2_Silent_p.C229C			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	229					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C229C(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CTGGCACATGCAGGCCTGATG	0.343																																																1	Substitution - coding silent(1)	kidney(1)											101	100	100					3																	107463494		2203	4300	6503	SO:0001819	synonymous_variant	56987			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.687C>T	3.37:g.107463494C>T			A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	ENST00000325805.8	37	CCDS46881.1																																																																																				0.343	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		T	107463494	C	T	107463494	2	4	219	1	0	0	0	0	0	0	0	1	1343	718	25	2		2	BBX	3	107463494	Silent	SNP	C	TCGA-B0-5701-01A-11D-1534-10	10929696	107463494	90558936	23	13187											
ROPN1B	152015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	125702160	125702160	+	Silent	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:125702160G>A	ENST00000514116.1	+	7	951	c.636G>A	c.(634-636)gaG>gaA	p.E212E	ROPN1B_ENST00000251776.4_Silent_p.E212E|ROPN1B_ENST00000511082.1_Silent_p.E120E|ROPN1B_ENST00000505382.1_Silent_p.E120E			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	212	Interaction with RHPN1. {ECO:0000250}.				acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)	p.E212E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		TTTGGCTGGAGTAACAGCACA	0.373																																																1	Substitution - coding silent(1)	kidney(1)											107	100	102					3																	125702160		2203	4300	6503	SO:0001819	synonymous_variant	152015			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"ropporin, rhophilin associated protein 1B"				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.636G>A	3.37:g.125702160G>A			D3DNA6|Q96BM7	Silent	SNP	ENST00000514116.1	37	CCDS33841.1																																																																																				0.373	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		A	125702160	G	A	125702160	2	1	219	1	0	0	0	0	0	0	0	1	13530	1020	36	2		2	ROPN1B	3	125702160	Silent	SNP	G	TCGA-B0-5701-01A-11D-1534-10	18238666	125702160	72320270	24	13188											
PIK3R4	30849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130463550	130463550	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:130463550C>A	ENST00000356763.3	-	2	1070	c.513G>T	c.(511-513)aaG>aaT	p.K171N		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K171N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GATAAGTGGGCTTAAAACTGG	0.423																																																1	Substitution - Missense(1)	kidney(1)											82	82	82					3																	130463550		2203	4300	6503	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.513G>T	3.37:g.130463550C>A	ENSP00000349205:p.Lys171Asn		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780086	0.70222	.	.	ENSG00000196455	ENST00000356763	T	0.13420	2.59	5.18	-7.34	0.01427	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.85197	2.74	0.80722	D	1	D	0.64830	0.994	D	0.66351	0.943	T	0.54241	-0.8323	10	0.66056	D	0.02	-13.4823	15.4712	0.75441	0.0:0.6168:0.0:0.3832	.	171	Q99570	PI3R4_HUMAN	N	171	ENSP00000349205:K171N	ENSP00000349205:K171N	K	-	3	2	PIK3R4	131946240	0.821000	0.29204	0.936000	0.37596	0.980000	0.70556	-0.062000	0.11674	-1.192000	0.02691	-0.672000	0.03802	AAG		0.423	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		A	130463550	C	A	130463550	3	1	219	1	0	0	0	0	1	0	0	0	11923	796	28	4	3639	4	PIK3R4	3	130463550	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	4761390	130463550	67558880	25	13189											
PLSCR4	57088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	145914562	145914562	+	Missense_Mutation	SNP	G	G	C	rs149266233		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:145914562G>C	ENST00000354952.2	-	7	883	c.643C>G	c.(643-645)Cct>Gct	p.P215A	PLSCR4_ENST00000433593.2_Missense_Mutation_p.P110A|PLSCR4_ENST00000493382.1_Missense_Mutation_p.P215A|PLSCR4_ENST00000383083.2_Missense_Mutation_p.P125A|PLSCR4_ENST00000446574.2_Missense_Mutation_p.P215A	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	215					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.P215A(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GTGACACCAGGAGGACACTGC	0.458																																																1	Substitution - Missense(1)	kidney(1)											88	74	79					3																	145914562		2203	4300	6503	SO:0001583	missense	57088			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.643C>G	3.37:g.145914562G>C	ENSP00000347038:p.Pro215Ala		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509039	0.85282	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000460885	T;T;T;T;T;T;T	0.30448	1.53;1.93;1.93;1.53;1.53;1.93;1.93	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000013	T	0.59662	0.2210	M	0.81112	2.525	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.64309	-0.6438	10	0.87932	D	0	.	17.6162	0.88068	0.0:0.0:1.0:0.0	.	125;215	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	A	215;125;110;215;215;215;125	ENSP00000347038:P215A;ENSP00000372561:P125A;ENSP00000415605:P110A;ENSP00000399315:P215A;ENSP00000419040:P215A;ENSP00000417896:P215A;ENSP00000420385:P125A	ENSP00000347038:P215A	P	-	1	0	PLSCR4	147397252	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.458000	0.90364	2.683000	0.91414	0.655000	0.94253	CCT		0.458	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		C	145914562	G	C	145914562	3	2	219	1	0	0	0	0	1	0	0	0	12114	1174	41	4	358	4	PLSCR4	3	145914562	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	15451012	145914562	52107868	26	13190											
PLCH1	23007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	155212209	155212209	+	Silent	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:155212209G>A	ENST00000340059.7	-	15	1955	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L	PLCH1_ENST00000447496.2_Silent_p.L652L|PLCH1_ENST00000414191.1_Silent_p.L634L|PLCH1_ENST00000334686.6_Silent_p.L634L|PLCH1_ENST00000460012.1_Silent_p.L634L|PLCH1_ENST00000494598.1_Silent_p.L652L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	652	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.L634L(1)|p.L652L(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAATCCTCGTGAGTTGCTTTT	0.453																																																2	Substitution - coding silent(2)	kidney(2)											169	158	162					3																	155212209		2203	4300	6503	SO:0001819	synonymous_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1956C>T	3.37:g.155212209G>A			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	CCDS46939.1																																																																																				0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		A	155212209	G	A	155212209	2	1	219	1	0	0	0	0	0	0	0	1	12039	1277	45	2		2	PLCH1	3	155212209	Silent	SNP	G	TCGA-B0-5701-01A-11D-1534-10	9297647	155212209	42810221	27	13191											
RGS12	6002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	3318132	3318132	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr4:3318132G>T	ENST00000344733.5	+	2	1139	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	RGS12_ENST00000336727.3_Missense_Mutation_p.D79Y|RGS12_ENST00000543385.1_Missense_Mutation_p.D79Y|RGS12_ENST00000382788.3_Missense_Mutation_p.D79Y	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	79	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.D79Y(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCTCATGAAGATGTAGTGAA	0.507																																																1	Substitution - Missense(1)	kidney(1)											64	64	64					4																	3318132		2203	4300	6503	SO:0001583	missense	6002			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.235G>T	4.37:g.3318132G>T	ENSP00000339381:p.Asp79Tyr		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656473	0.47467	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.72	4.72	0.59763	PDZ/DHR/GLGF (4);	0.052390	0.64402	D	0.000001	T	0.72053	0.3413	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.992	T	0.78181	-0.2304	10	0.72032	D	0.01	-31.8	16.6763	0.85280	0.0:0.0:1.0:0.0	.	79;79;79	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	Y	79	ENSP00000440566:D79Y;ENSP00000339381:D79Y;ENSP00000338509:D79Y;ENSP00000372238:D79Y	ENSP00000338509:D79Y	D	+	1	0	RGS12	3287930	1.000000	0.71417	0.049000	0.19019	0.017000	0.09413	7.637000	0.83313	2.176000	0.68965	0.491000	0.48974	GAT		0.507	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		T	3318132	G	T	3318132	3	4	219	1	0	0	0	0	1	0	0	0	13301	942	33	4	237	4	RGS12	4	3318132	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10		3318132	187836144	28	13192											
ARAP2	116984	hgsc.bcm.edu;ucsc.edu	37	4	36161108	36161108	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr4:36161108A>G	ENST00000303965.4	-	14	2951	c.2462T>C	c.(2461-2463)gTg>gCg	p.V821A		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	821					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATCCGGTTTCACTACAGCAGC	0.418																																																0													72	72	72					4																	36161108		2203	4300	6503	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2462T>C	4.37:g.36161108A>G	ENSP00000302895:p.Val821Ala		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	A	5.121	0.207952	0.09704	.	.	ENSG00000047365	ENST00000303965	T	0.07908	3.15	6.08	6.08	0.98989	.	0.145674	0.45606	D	0.000355	T	0.08802	0.0218	L	0.51422	1.61	0.38615	D	0.951	B	0.22909	0.077	B	0.22152	0.038	T	0.21759	-1.0236	10	0.12430	T	0.62	.	10.9084	0.47094	0.9305:0.0:0.0695:0.0	.	821	Q8WZ64	ARAP2_HUMAN	A	821	ENSP00000302895:V821A	ENSP00000302895:V821A	V	-	2	0	ARAP2	35837503	1.000000	0.71417	0.985000	0.45067	0.283000	0.27025	4.913000	0.63341	2.333000	0.79357	0.482000	0.46254	GTG		0.418	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		G	36161108	A	G	36161108	3	3	219	1	0	0	0	0	1	0	0	0	839	159	6	3	2732	3	ARAP2	4	36161108	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10	32842976	36161108	154993168	29	13193											
SDAD1	55153	hgsc.bcm.edu;ucsc.edu	37	4	76898846	76898846	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr4:76898846delC	ENST00000356260.5	-	4	476	c.358delG	c.(358-360)gaafs	p.E120fs	SDAD1_ENST00000395711.4_Intron	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	120					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGAAGAGTTCTAGCAGGCTT	0.373																																																0													98	98	98					4																	76898846		2203	4300	6503	SO:0001589	frameshift_variant	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.358delG	4.37:g.76898846delC	ENSP00000348596:p.Glu120fs		Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Frame_Shift_Del	DEL	ENST00000356260.5	37	CCDS3573.2																																																																																				0.373	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		-	76898846	C	-	76898846	7	5	219	1	0	1	0	1	0	0	0	0	13956	922	32	0	1781	0	SDAD1	4	76898846	Frame_Shift_Del	DEL	C	TCGA-B0-5701-01A-11D-1534-10	40737738	76898846	114255430	30	13194											
HPSE	10855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	84231973	84231973	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr4:84231973T>A	ENST00000405413.2	-	6	880	c.744A>T	c.(742-744)caA>caT	p.Q248H	HPSE_ENST00000311412.5_Missense_Mutation_p.Q248H|HPSE_ENST00000512196.1_Missense_Mutation_p.Q248H|HPSE_ENST00000513463.1_Missense_Mutation_p.Q190H	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	248					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)	p.Q248H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GTTTATGCAATTGAATAAAAT	0.373																																																1	Substitution - Missense(1)	kidney(1)											126	125	125					4																	84231973		2203	4300	6503	SO:0001583	missense	10855			AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.744A>T	4.37:g.84231973T>A	ENSP00000384262:p.Gln248His		A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	T	6.315	0.426271	0.11987	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.2	0.132	0.14762	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.090450	0.06907	N	0.806996	T	0.12518	0.0304	N	0.02202	-0.64	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.26503	-1.0101	10	0.40728	T	0.16	-2.2055	6.1068	0.20077	0.0:0.3968:0.2096:0.3936	.	248;190;248	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	H	248;248;248;190	ENSP00000308107:Q248H;ENSP00000384262:Q248H;ENSP00000423265:Q248H;ENSP00000421365:Q190H	ENSP00000308107:Q248H	Q	-	3	2	HPSE	84450997	0.005000	0.15991	0.075000	0.20258	0.878000	0.50629	-0.489000	0.06490	0.075000	0.16796	-0.361000	0.07541	CAA		0.373	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		A	84231973	T	A	84231973	3	1	219	1	0	0	0	0	1	0	0	0	7346	1490	52	5	919	5	HPSE	4	84231973	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	7333127	84231973	106922303	31	13195											
SPP1	6696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	88904007	88904007	+	Missense_Mutation	SNP	A	A	G	rs45452992		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr4:88904007A>G	ENST00000395080.3	+	7	1031	c.904A>G	c.(904-906)Att>Gtt	p.I302V	SPP1_ENST00000360804.4_Missense_Mutation_p.I275V|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000237623.7_Missense_Mutation_p.I288V	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	302					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)	p.I302V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GAAATTTCGTATTTCTCATGA	0.348																																																1	Substitution - Missense(1)	kidney(1)											69	77	74					4																	88904007		2203	4300	6503	SO:0001583	missense	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"Endogenous ligands"	11255	protein-coding gene	gene with protein product	"early T-lymphocyte activation 1"	166490	"osteopontin", "bone sialoprotein I"	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.904A>G	4.37:g.88904007A>G	ENSP00000378517:p.Ile302Val		B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	A	9.754	1.168243	0.21621	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804	T;T;T	0.31247	1.5;1.5;1.5	5.8	-10.5	0.00291	.	1.921710	0.02271	N	0.068438	T	0.12860	0.0312	N	0.04132	-0.27	0.09310	N	1	B;B;B;B;B	0.17465	0.001;0.003;0.003;0.022;0.003	B;B;B;B;B	0.15052	0.008;0.008;0.008;0.012;0.008	T	0.12630	-1.0540	10	0.27082	T	0.32	-0.401	11.5122	0.50500	0.3043:0.0:0.5932:0.1025	.	315;261;288;275;302	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	V	280;261;288;302;275	ENSP00000237623:I288V;ENSP00000378517:I302V;ENSP00000354042:I275V	ENSP00000237623:I288V	I	+	1	0	SPP1	89123031	0.000000	0.05858	0.000000	0.03702	0.373000	0.29922	-0.768000	0.04715	-1.505000	0.01807	-0.269000	0.10298	ATT		0.348	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			G	88904007	A	G	88904007	3	3	219	1	0	0	0	0	1	0	0	0	15091	449	16	3	926	3	SPP1	4	88904007	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10	4672034	88904007	102250269	32	13196											
DNAH5	1767	hgsc.bcm.edu	37	5	13866368	13866369	+	Frame_Shift_Ins	INS	-	-	A	rs201366196		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr5:13866368_13866369insA	ENST00000265104.4	-	26	4180_4181	c.4076_4077insT	c.(4075-4077)ttgfs	p.L1359fs	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1359	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGGGGCTTCAAGCCGCTAGC	0.332									Kartagener syndrome																																							0																																										SO:0001589	frameshift_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4077dupT	5.37:g.13866370_13866370dupA	ENSP00000265104:p.Leu1359fs		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Ins	INS	ENST00000265104.4	37	CCDS3882.1																																																																																				0.332	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13866369	-	A	13866368	7	5	219	1	0	1	1	0	0	0	0	0	4606	825	29	0	10013	0	DNAH5	5	13866368	Frame_Shift_Ins	INS	-	TCGA-B0-5701-01A-11D-1534-10		13866368	167048892	33	13197											
FAM170A	340069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	118969970	118969970	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr5:118969970T>C	ENST00000515256.1	+	3	699	c.527T>C	c.(526-528)gTg>gCg	p.V176A				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	176					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V176A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CCCTCTGATGTGTCCACCAGA	0.537																																																1	Substitution - Missense(1)	kidney(1)											87	92	91					5																	118969970		2019	4191	6210	SO:0001583	missense	340069			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.527T>C	5.37:g.118969970T>C	ENSP00000422684:p.Val176Ala		Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37		.	.	.	.	.	.	.	.	.	.	T	5.271	0.235418	0.10023	.	.	ENSG00000164334	ENST00000296787;ENST00000515256	T	0.33438	1.41	4.89	2.51	0.30379	.	0.468250	0.18500	N	0.139399	T	0.22936	0.0554	L	0.48362	1.52	0.22066	N	0.999388	B;B	0.17268	0.004;0.021	B;B	0.16289	0.01;0.015	T	0.18650	-1.0330	9	.	.	.	-11.6021	6.4135	0.21704	0.0:0.1932:0.0:0.8068	.	129;176	D6RIE9;A1A519	.;F170A_HUMAN	A	129;176	ENSP00000422684:V176A	.	V	+	2	0	FAM170A	118997869	0.811000	0.29063	0.603000	0.28903	0.125000	0.20455	1.473000	0.35387	0.468000	0.27243	-0.250000	0.11733	GTG		0.537	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		C	118969970	T	C	118969970	3	2	219	1	0	0	0	0	1	0	0	0	5491	1696	59	3	537	3	FAM170A	5	118969970	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	105103602	118969970	61945290	34	13198											
CTNNA1	1495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138163310	138163310	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr5:138163310C>T	ENST00000302763.7	+	7	1055	c.965C>T	c.(964-966)tCg>tTg	p.S322L	CTNNA1_ENST00000355078.5_Missense_Mutation_p.S219L|CTNNA1_ENST00000518825.1_Missense_Mutation_p.S322L	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	322					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.S322L(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGGCCGACTCGTCCTGCACG	0.582																																																1	Substitution - Missense(1)	kidney(1)											108	95	99					5																	138163310		2203	4300	6503	SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.965C>T	5.37:g.138163310C>T	ENSP00000304669:p.Ser322Leu		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227050	0.95173	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.38722	1.12;1.12;1.12	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	M	0.79926	2.475	0.80722	D	1	D;D;D	0.61080	0.985;0.989;0.98	P;P;P	0.58077	0.743;0.832;0.692	T	0.65672	-0.6111	10	0.52906	T	0.07	-7.3413	19.8512	0.96741	0.0:1.0:0.0:0.0	.	322;199;322	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	L	219;322;322;307;322	ENSP00000347190:S219L;ENSP00000304669:S322L;ENSP00000427821:S322L	ENSP00000304669:S322L	S	+	2	0	CTNNA1	138191209	1.000000	0.71417	0.947000	0.38551	0.742000	0.42306	7.776000	0.85560	2.797000	0.96272	0.563000	0.77884	TCG		0.582	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		T	138163310	C	T	138163310	3	4	219	1	0	0	0	0	1	0	0	0	4014	893	31	1	987	1	CTNNA1	5	138163310	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	19193340	138163310	42751950	35	13199											
PCDHB11	56125	hgsc.bcm.edu;ucsc.edu	37	5	140580390	140580391	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr5:140580390_140580391insT	ENST00000354757.3	+	1	1043_1044	c.1043_1044insT	c.(1042-1047)actgtgfs	p.V349fs	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	349					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAAATCACTGTGTCATCAA	0.401																																																0																																										SO:0001589	frameshift_variant	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1044dupT	5.37:g.140580391_140580391dupT	ENSP00000346802:p.Val349fs		B4DSF7|Q2M223	Frame_Shift_Ins	INS	ENST00000354757.3	37	CCDS4253.1																																																																																				0.401	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		T	140580391	-	T	140580390	7	5	219	1	0	1	1	0	0	0	0	0	11538	565	20	0	1045	0	PCDHB11	5	140580390	Frame_Shift_Ins	INS	-	TCGA-B0-5701-01A-11D-1534-10	2417080	140580390	40334870	36	13200											
FLT4	2324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180036981	180036981	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr5:180036981G>A	ENST00000261937.6	-	28	3809	c.3731C>T	c.(3730-3732)gCt>gTt	p.A1244V	FLT4_ENST00000393347.3_Missense_Mutation_p.A1244V|FLT4_ENST00000502649.1_Missense_Mutation_p.A1244V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1244					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A1244V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACGGGTCTCAGCCCCTCTGGC	0.572																																					Colon(97;1075 1466 27033 27547 35871)											2	Substitution - Missense(2)	kidney(2)											111	112	112					5																	180036981		2203	4300	6503	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3731C>T	5.37:g.180036981G>A	ENSP00000261937:p.Ala1244Val		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	6.198	0.404628	0.11754	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.76448	-1.01;-1.02;-1.01	4.79	1.45	0.22620	.	.	.	.	.	T	0.53899	0.1825	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.39961	-0.9588	9	0.33940	T	0.23	.	4.5221	0.11964	0.1991:0.0:0.4293:0.3715	.	1244;1244	E9PD35;P35916	.;VGFR3_HUMAN	V	1244	ENSP00000261937:A1244V;ENSP00000377016:A1244V;ENSP00000426057:A1244V	ENSP00000261937:A1244V	A	-	2	0	FLT4	179969587	0.976000	0.34144	0.007000	0.13788	0.140000	0.21249	2.397000	0.44477	0.563000	0.29222	-0.258000	0.10820	GCT		0.572	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			A	180036981	G	A	180036981	3	1	219	1	0	0	0	0	1	0	0	0	5946	971	34	2	380	2	FLT4	5	180036981	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	39456591	180036981	878279	37	13201											
TUBB2B	347733	broad.mit.edu	37	6	3225818	3225818	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr6:3225818C>T	ENST00000259818.7	-	4	696	c.505G>A	c.(505-507)Gtc>Atc	p.V169I	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	169					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.V169I(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GAGGGCATGACGCTGAAGGTG	0.607																																																1	Substitution - Missense(1)	kidney(1)											23	25	24					6																	3225818		1905	3828	5733	SO:0001583	missense	347733			BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"Tubulins"	30829	protein-coding gene	gene with protein product	"class IIb beta-tubulin"	612850	"tubulin, beta 2B"			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.505G>A	6.37:g.3225818C>T	ENSP00000259818:p.Val169Ile		A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396816	0.42512	.	.	ENSG00000137285	ENST00000259818	T	0.71103	-0.54	5.21	5.21	0.72293	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000020	T	0.56978	0.2022	L	0.41710	1.295	0.80722	D	1	B;B;B	0.15473	0.013;0.013;0.007	B;B;B	0.26864	0.055;0.055;0.074	T	0.59873	-0.7372	10	0.87932	D	0	.	18.7626	0.91858	0.0:1.0:0.0:0.0	.	169;169;169	Q8IZ29;Q8IWP6;Q9BVA1	.;.;TBB2B_HUMAN	I	169	ENSP00000259818:V169I	ENSP00000259818:V169I	V	-	1	0	TUBB2B	3170817	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.420000	0.82092	0.514000	0.50259	GTC		0.607	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		T	3225818	C	T	3225818	3	4	219	1	0	0	0	0	1	0	0	0	16760	536	19	1	836	1	TUBB2B	6	3225818	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10		3225818	167889249	38	13202											
USP45	85015	hgsc.bcm.edu;ucsc.edu	37	6	99912577	99912577	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr6:99912577delA	ENST00000327681.6	-	13	1743	c.1211delT	c.(1210-1212)ttafs	p.L404fs	USP45_ENST00000500704.2_Frame_Shift_Del_p.L404fs|USP45_ENST00000539675.1_5'Flank|USP45_ENST00000392738.2_Frame_Shift_Del_p.L84fs|USP45_ENST00000369233.2_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	404	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TGTCTCCCGTAAACTTCTATA	0.338																																																0													97	95	96					6																	99912577		2203	4300	6503	SO:0001589	frameshift_variant	85015			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1211delT	6.37:g.99912577delA	ENSP00000333376:p.Leu404fs		B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Frame_Shift_Del	DEL	ENST00000327681.6	37	CCDS34501.1																																																																																				0.338	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		-	99912577	A	-	99912577	7	5	219	1	0	1	0	1	0	0	0	0	17081	372	13	0	1257	0	USP45	6	99912577	Frame_Shift_Del	DEL	A	TCGA-B0-5701-01A-11D-1534-10	96686759	99912577	71202490	39	13203											
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152665354	152665354	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr6:152665354C>A	ENST00000367255.5	-	74	12688	c.12087G>T	c.(12085-12087)caG>caT	p.Q4029H	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q3958H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q3894H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q4029H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q3958H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4029					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q4029H(2)|p.Q3958H(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCCAAACTCTGGTACATCT	0.453										HNSCC(10;0.0054)																																						3	Substitution - Missense(3)	kidney(3)											136	129	132					6																	152665354		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12087G>T	6.37:g.152665354C>A	ENSP00000356224:p.Gln4029His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261664	0.39995	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.24	5.86	3.98	0.46160	.	0.245693	0.29830	N	0.011083	T	0.32102	0.0818	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.63046	0.984;0.984;0.984;0.992	P;P;P;P	0.59948	0.8;0.8;0.8;0.866	T	0.15435	-1.0437	10	0.45353	T	0.12	.	5.9907	0.19460	0.0:0.6302:0.1423:0.2276	.	4029;4029;4029;3958	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	4029;3958;4029;3958;3894	ENSP00000356224:Q4029H;ENSP00000396024:Q3958H;ENSP00000265368:Q4029H;ENSP00000390975:Q3958H;ENSP00000341887:Q3894H	ENSP00000265368:Q4029H	Q	-	3	2	SYNE1	152707047	1.000000	0.71417	0.998000	0.56505	0.658000	0.38924	3.134000	0.50538	0.830000	0.34757	-0.355000	0.07637	CAG		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152665354	C	A	152665354	3	1	219	1	0	0	0	0	1	0	0	0	15450	912	32	4	14671	4	SYNE1	6	152665354	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	52752777	152665354	18449713	40	13204											
CPSF4	10898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99045873	99045873	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr7:99045873A>T	ENST00000292476.5	+	3	294	c.284A>T	c.(283-285)gAg>gTg	p.E95V	ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.E42V|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000451876.1_Missense_Mutation_p.E95V|CPSF4_ENST00000436336.2_Missense_Mutation_p.E95V|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_5'Flank			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	95					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E95V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGATGCCCGAGTGCTACTTC	0.577																																																1	Substitution - Missense(1)	kidney(1)											137	103	114					7																	99045873		2203	4300	6503	SO:0001583	missense	10898				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.284A>T	7.37:g.99045873A>T	ENSP00000292476:p.Glu95Val		D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	CCDS5664.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.031271	0.93575	.	.	ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580;ENST00000412686;ENST00000452047	T;T;T;T;T;T	0.43294	1.67;1.73;1.71;1.31;0.95;1.34	5.96	5.96	0.96718	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	L	0.49778	1.585	0.80722	D	1	D;D;P;D	0.89917	1.0;0.957;0.931;0.997	D;P;P;D	0.87578	0.998;0.828;0.566;0.919	T	0.51942	-0.8641	10	0.24483	T	0.36	-25.2744	16.4343	0.83869	1.0:0.0:0.0:0.0	.	42;95;95;95	B7Z7B0;O95639-3;O95639;O95639-2	.;.;CPSF4_HUMAN;.	V	95;95;95;42;42;62	ENSP00000395311:E95V;ENSP00000396060:E95V;ENSP00000292476:E95V;ENSP00000402224:E42V;ENSP00000401150:E42V;ENSP00000392584:E62V	ENSP00000292476:E95V	E	+	2	0	CPSF4	98883809	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.962000	0.93254	2.285000	0.76669	0.528000	0.53228	GAG		0.577	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			T	99045873	A	T	99045873	3	4	219	1	0	0	0	0	1	0	0	0	3830	304	11	5	294	5	CPSF4	7	99045873	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10		99045873	60092790	41	13205											
PILRA	29992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99997510	99997510	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr7:99997510T>A	ENST00000198536.2	+	7	1104	c.892T>A	c.(892-894)Tac>Aac	p.Y298N	PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000350573.2_Missense_Mutation_p.Y225N|PILRA_ENST00000453419.1_Missense_Mutation_p.V212E	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	298					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y298N(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGAGACCCTGTACTCTGTCTT	0.582																																																1	Substitution - Missense(1)	kidney(1)											128	121	123					7																	99997510		2203	4300	6503	SO:0001583	missense	29992			AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"Immunoglobulin superfamily / V-set domain containing"	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.892T>A	7.37:g.99997510T>A	ENSP00000198536:p.Tyr298Asn		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	CCDS5691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.47|18.47	3.630836|3.630836	0.67015|0.67015	.|.	.|.	ENSG00000085514|ENSG00000085514	ENST00000453419|ENST00000198536;ENST00000350573	T|T;T	0.20598|0.46063	2.06|0.88;0.88	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.35525	.|N	.|0.003153	T|T	0.59307|0.59307	0.2184|0.2184	M|M	0.61703|0.61703	1.905|1.905	0.22317|0.22317	N|N	0.999206|0.999206	D|D;D	0.65815|0.89917	0.995|1.0;1.0	P|D;D	0.60886|0.87578	0.88|0.998;0.995	T|T	0.52711|0.52711	-0.8539|-0.8539	8|9	.|.	.|.	.|.	.|.	11.6597|11.6597	0.51339|0.51339	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	212|225;298	C9JJ79|Q9UKJ1-3;Q9UKJ1	.|.;PILRA_HUMAN	E|N	212|298;225	ENSP00000390026:V212E|ENSP00000198536:Y298N;ENSP00000340109:Y225N	.|.	V|Y	+|+	2|1	0|0	PILRA|PILRA	99835446|99835446	0.451000|0.451000	0.25705|0.25705	0.299000|0.299000	0.25016|0.25016	0.028000|0.028000	0.11728|0.11728	2.945000|2.945000	0.49043|0.49043	2.194000|2.194000	0.70268|0.70268	0.528000|0.528000	0.53228|0.53228	GTA|TAC		0.582	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		A	99997510	T	A	99997510	3	1	219	1	0	0	0	0	1	0	0	0	11927	1638	57	5	918	5	PILRA	7	99997510	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	951637	99997510	59141153	42	13206											
ATXN7L1	222255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	105254533	105254533	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr7:105254533G>T	ENST00000419735.3	-	10	2293	c.2248C>A	c.(2248-2250)Ctt>Att	p.L750I	ATXN7L1_ENST00000388807.4_Missense_Mutation_p.L410I|ATXN7L1_ENST00000477775.1_Missense_Mutation_p.L626I	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	750	Ser-rich.							p.L750I(1)		endometrium(1)|large_intestine(4)|lung(5)	10						TGGAGCGCAAGGGAGGGCACA	0.612																																																1	Substitution - Missense(1)	kidney(1)											40	41	41					7																	105254533		692	1591	2283	SO:0001583	missense	222255			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.2248C>A	7.37:g.105254533G>T	ENSP00000410759:p.Leu750Ile		A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	ENST00000419735.3	37	CCDS47682.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822020	0.71028	.	.	ENSG00000146776	ENST00000419735;ENST00000477775;ENST00000484475;ENST00000388807;ENST00000472195	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.88	4.88	0.63580	.	0.103331	0.42548	D	0.000693	T	0.61413	0.2345	L	0.56769	1.78	0.42364	D	0.992428	D;D;D	0.71674	0.993;0.998;0.993	D;D;D	0.83275	0.987;0.996;0.967	T	0.58572	-0.7613	10	0.34782	T	0.22	.	18.2387	0.89958	0.0:0.0:1.0:0.0	.	636;626;750	A4D0Q3;Q9ULK2-3;Q9ULK2	.;.;AT7L1_HUMAN	I	750;626;451;410;626	ENSP00000410759:L750I;ENSP00000418476:L626I;ENSP00000418900:L451I;ENSP00000373459:L410I;ENSP00000419566:L626I	ENSP00000373459:L410I	L	-	1	0	ATXN7L1	105041769	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.018000	0.57174	2.523000	0.85059	0.655000	0.94253	CTT		0.612	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			T	105254533	G	T	105254533	3	4	219	1	0	0	0	0	1	0	0	0	1216	1000	35	4	352	4	ATXN7L1	7	105254533	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	5257023	105254533	53884130	43	13207											
MCPH1	79648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	6302811	6302811	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:6302811A>G	ENST00000344683.5	+	8	1644	c.1568A>G	c.(1567-1569)aAt>aGt	p.N523S	MCPH1_ENST00000522905.1_Missense_Mutation_p.N475S|MCPH1_ENST00000519480.1_Missense_Mutation_p.N523S	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	523					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.N523S(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CCAGAGGGAAATGGCTTTTCT	0.488																																					Colon(95;1448 1467 8277 34473 35819)											1	Substitution - Missense(1)	kidney(1)											89	89	89					8																	6302811		1902	4120	6022	SO:0001583	missense	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1568A>G	8.37:g.6302811A>G	ENSP00000342924:p.Asn523Ser		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	A	3.637	-0.074363	0.07184	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.09350	2.99;2.99;2.99	5.49	-5.4	0.02656	.	2.447740	0.01489	N	0.016993	T	0.05960	0.0155	N	0.19112	0.55	0.09310	N	1	P;B;B	0.43938	0.822;0.013;0.078	B;B;B	0.39379	0.298;0.019;0.034	T	0.40251	-0.9573	10	0.02654	T	1	1.1766	9.7626	0.40541	0.2639:0.1333:0.6029:0.0	.	475;523;523	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	S	523;523;475	ENSP00000342924:N523S;ENSP00000430962:N523S;ENSP00000430768:N475S	ENSP00000342924:N523S	N	+	2	0	MCPH1	6290219	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.059000	0.11731	-1.146000	0.02854	0.533000	0.62120	AAT		0.488	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		G	6302811	A	G	6302811	3	3	219	1	0	0	0	0	1	0	0	0	9400	101	4	3	1598	3	MCPH1	8	6302811	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10		6302811	140061211	44	13208											
BRF2	55290	hgsc.bcm.edu;ucsc.edu	37	8	37704604	37704605	+	Frame_Shift_Ins	INS	-	-	AT	rs369612078	byFrequency	TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:37704604_37704605insAT	ENST00000220659.6	-	3	423_424	c.303_304insAT	c.(301-306)tatcggfs	p.R102fs	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Frame_Shift_Ins_p.R102fs	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CCAGAGTGCCGATATGCCTGTT	0.545																																																0																																										SO:0001589	frameshift_variant	55290			AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.302_303dupAT	8.37:g.37704607_37704608dupAT	ENSP00000220659:p.Arg102fs		Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000220659.6	37	CCDS6098.1																																																																																				0.545	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		AT	37704605	-	AT	37704604	7	5	219	1	0	1	1	0	0	0	0	0	1513	1057	37	0	963	0	BRF2	8	37704604	Frame_Shift_Ins	INS	-	TCGA-B0-5701-01A-11D-1534-10	31401793	37704604	108659418	45	13209											
PRDM14	63978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	70981476	70981476	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:70981476T>C	ENST00000276594.2	-	2	821	c.620A>G	c.(619-621)tAc>tGc	p.Y207C		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	207					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.Y207C(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGTGACCCCGTACAGAACGAA	0.602																																					NSCLC(129;99 1813 5906 40656 46114)											1	Substitution - Missense(1)	kidney(1)											81	84	83					8																	70981476		2203	4300	6503	SO:0001583	missense	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.620A>G	8.37:g.70981476T>C	ENSP00000276594:p.Tyr207Cys		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.544767	0.27563	.	.	ENSG00000147596	ENST00000276594	T	0.22945	1.93	4.98	2.56	0.30785	.	0.067331	0.64402	D	0.000008	T	0.27027	0.0662	M	0.78049	2.395	0.49582	D	0.9998	B	0.26445	0.149	B	0.23419	0.046	T	0.07751	-1.0756	10	0.87932	D	0	-14.4652	5.8946	0.18931	0.155:0.0817:0.0:0.7632	.	207	Q9GZV8	PRD14_HUMAN	C	207	ENSP00000276594:Y207C	ENSP00000276594:Y207C	Y	-	2	0	PRDM14	71144030	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	4.455000	0.60075	0.364000	0.24374	-0.250000	0.11733	TAC		0.602	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			C	70981476	T	C	70981476	3	2	219	1	0	0	0	0	1	0	0	0	12460	1638	57	3	1123	3	PRDM14	8	70981476	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	33276872	70981476	75382546	46	13210											
TMEM55A	55529	hgsc.bcm.edu;ucsc.edu	37	8	92008894	92008894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:92008894delT	ENST00000285419.3	-	6	932	c.618delA	c.(616-618)ggafs	p.G206fs		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	206						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.M200_G206delMICIFIG(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TTAACCCAACTCCAATGAAAA	0.418																																																1	Deletion - In frame(1)	breast(1)											92	81	84					8																	92008894		2203	4300	6503	SO:0001589	frameshift_variant	55529			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.618delA	8.37:g.92008894delT	ENSP00000285419:p.Gly206fs		B2R9H4|Q68CU2	Frame_Shift_Del	DEL	ENST00000285419.3	37	CCDS6252.1																																																																																				0.418	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		-	92008894	T	-	92008894	7	5	219	1	0	1	0	1	0	0	0	0	16186	1538	54	0	163	0	TMEM55A	8	92008894	Frame_Shift_Del	DEL	T	TCGA-B0-5701-01A-11D-1534-10	21027418	92008894	54355128	47	13211											
CSMD3	114788	broad.mit.edu;ucsc.edu	37	8	113237062	113237062	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:113237062A>G	ENST00000297405.5	-	71	11306	c.11062T>C	c.(11062-11064)Tca>Cca	p.S3688P	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3648P|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3618P|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3519P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3688						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S3688P(1)|p.S3648P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTCCACTGACTTTGCGTTG	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - Missense(2)	kidney(2)											399	343	362					8																	113237062		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11062T>C	8.37:g.113237062A>G	ENSP00000297405:p.Ser3688Pro		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	5.437	0.265799	0.10294	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21734	2.27;2.27;2.28;1.99;2.29	5.8	4.62	0.57501	.	0.087890	0.48286	D	0.000198	T	0.20333	0.0489	N	0.05487	-0.04	0.41823	D	0.990035	P;P;D	0.76494	0.893;0.791;0.999	P;B;D	0.71656	0.624;0.342;0.974	T	0.05699	-1.0869	10	0.02654	T	1	.	12.9604	0.58455	0.8647:0.1353:0.0:0.0	.	3519;3688;3648	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	P	3648;3688;2958;3519;3618	ENSP00000345799:S3648P;ENSP00000297405:S3688P;ENSP00000341558:S2958P;ENSP00000412263:S3519P;ENSP00000343124:S3618P	ENSP00000297405:S3688P	S	-	1	0	CSMD3	113306238	0.999000	0.42202	0.816000	0.32577	0.976000	0.68499	1.502000	0.35704	0.986000	0.38683	0.482000	0.46254	TCA		0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113237062	A	G	113237062	3	3	219	1	0	0	0	0	1	0	0	0	3948	275	10	3	65	3	CSMD3	8	113237062	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10	21228168	113237062	33126960	48	13212											
OPLAH	26873	hgsc.bcm.edu	37	8	145113732	145113732	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:145113732C>G	ENST00000426825.1	-	5	612	c.531G>C	c.(529-531)gaG>gaC	p.E177D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	177					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATAGCAGCCCCTCCAGCTTCC	0.677																																																0													16	22	20					8																	145113732		2055	4187	6242	SO:0001583	missense	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.531G>C	8.37:g.145113732C>G	ENSP00000475943:p.Glu177Asp		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		.	.	.	.	.	.	.	.	.	.	C	14.84	2.656718	0.47467	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.77	2.97	0.34412	Hydantoinaseoxoprolinase, N-terminal (1);	0.292350	0.36134	N	0.002768	T	0.42381	0.1200	.	.	.	0.27079	N	0.963132	B	0.27013	0.166	B	0.31101	0.124	T	0.50466	-0.8825	7	0.46703	T	0.11	.	8.6738	0.34167	0.0:0.8114:0.0:0.1886	.	177	O14841	OPLA_HUMAN	D	177	.	ENSP00000412071:E177D	E	-	3	2	OPLAH	145185720	0.344000	0.24827	1.000000	0.80357	0.974000	0.67602	0.235000	0.17948	0.458000	0.26988	0.561000	0.74099	GAG		0.677	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		G	145113732	C	G	145113732	3	3	219	1	0	0	0	0	1	0	0	0	10878	680	24	4	3429	4	OPLAH	8	145113732	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	31876670	145113732	1250290	49	13213											
TMOD1	7111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100331319	100331319	+	Splice_Site	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr9:100331319G>T	ENST00000259365.4	+	8	1083	c.870G>T	c.(868-870)caG>caT	p.Q290H	TMOD1_ENST00000375175.1_Splice_Site_p.Q163H|TMOD1_ENST00000395211.2_Splice_Site_p.Q290H	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	290					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)		p.Q290H(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TTGACAACCAGGTGAGATGGG	0.502																																																1	Substitution - Missense(1)	kidney(1)											92	85	88					9																	100331319		2203	4300	6503	SO:0001630	splice_region_variant	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.870+1G>T	9.37:g.100331319G>T			B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802965	0.90623	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.92858	-3.12;-3.12;-3.12	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	D	0.96911	0.8991	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97735	1.0205	10	0.87932	D	0	-20.4065	17.5225	0.87791	0.0:0.0:1.0:0.0	.	290	P28289	TMOD1_HUMAN	H	290;290;163	ENSP00000378637:Q290H;ENSP00000259365:Q290H;ENSP00000364318:Q163H	ENSP00000259365:Q290H	Q	+	3	2	TMOD1	99371140	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.349000	0.97066	2.526000	0.85167	0.563000	0.77884	CAG		0.502	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275	Missense_Mutation	T	100331319	G	T	100331319	5	4	219	1	0	0	0	0	0	0	1	0	16238	1014	35	4	896	4	TMOD1	9	100331319	Splice_Site	SNP	G	TCGA-B0-5701-01A-11D-1534-10		100331319	40882112	50	13214											
OR13C8	138802	broad.mit.edu;ucsc.edu	37	9	107331603	107331603	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr9:107331603A>G	ENST00000335040.1	+	1	155	c.155A>G	c.(154-156)gAt>gGt	p.D52G		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D52G(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATCATCTTTGATTCTCACCTG	0.443																																																1	Substitution - Missense(1)	kidney(1)											333	310	318					9																	107331603		2203	4300	6503	SO:0001583	missense	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.155A>G	9.37:g.107331603A>G	ENSP00000334068:p.Asp52Gly		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.745769	0.49151	.	.	ENSG00000186943	ENST00000335040	T	0.00932	5.53	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.100033	0.43919	D	0.000513	T	0.03695	0.0105	M	0.94142	3.5	0.36012	D	0.838151	B	0.30193	0.272	B	0.33042	0.157	T	0.00567	-1.1667	10	0.87932	D	0	.	12.9272	0.58266	1.0:0.0:0.0:0.0	.	52	Q8NGS7	O13C8_HUMAN	G	52	ENSP00000334068:D52G	ENSP00000334068:D52G	D	+	2	0	OR13C8	106371424	0.908000	0.30866	0.782000	0.31804	0.763000	0.43281	4.044000	0.57361	2.212000	0.71576	0.533000	0.62120	GAT		0.443	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			G	107331603	A	G	107331603	3	3	219	1	0	0	0	0	1	0	0	0	10940	333	12	3	157	3	OR13C8	9	107331603	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10	7000284	107331603	33881828	51	13215											
UAP1L1	91373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139973455	139973455	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr9:139973455T>C	ENST00000409858.3	+	4	730	c.698T>C	c.(697-699)cTg>cCg	p.L233P	UAP1L1_ENST00000360271.3_Missense_Mutation_p.L110P|UAP1L1_ENST00000476184.1_3'UTR	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	233							uridylyltransferase activity (GO:0070569)	p.L233P(1)|p.L110P(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TACTGCGCGCTGGAGGACCAC	0.647																																																2	Substitution - Missense(2)	kidney(2)											84	85	85					9																	139973455		2203	4300	6503	SO:0001583	missense	91373			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.698T>C	9.37:g.139973455T>C	ENSP00000386935:p.Leu233Pro		A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142849	0.57044	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.46063	0.88;0.88	4.86	4.86	0.63082	.	0.075264	0.53938	D	0.000049	T	0.73923	0.3649	H	0.96430	3.82	0.80722	D	1	D;P	0.60160	0.987;0.898	D;B	0.70227	0.968;0.397	T	0.82900	-0.0228	10	0.87932	D	0	.	13.6321	0.62202	0.0:0.0:0.0:1.0	.	233;110	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	P	233;110	ENSP00000386935:L233P;ENSP00000353409:L110P	ENSP00000353409:L110P	L	+	2	0	UAP1L1	139093276	1.000000	0.71417	0.079000	0.20413	0.141000	0.21300	6.091000	0.71406	1.832000	0.53329	0.459000	0.35465	CTG		0.647	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		C	139973455	T	C	139973455	3	2	219	1	0	0	0	0	1	0	0	0	16831	1580	55	3	712	3	UAP1L1	9	139973455	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	32641852	139973455	1239976	52	13216											
NET1	10276	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5498060	5498060	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr10:5498060T>C	ENST00000355029.4	+	11	1350	c.1208T>C	c.(1207-1209)aTt>aCt	p.I403T	NET1_ENST00000484741.1_3'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.I349T|NET1_ENST00000542715.1_Missense_Mutation_p.I222T	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	403	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I403T(1)|p.I349T(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AAACTTTACATTTTCCTGTTT	0.403																																																2	Substitution - Missense(2)	kidney(2)											66	71	69					10																	5498060		2203	4300	6503	SO:0001583	missense	10276			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1208T>C	10.37:g.5498060T>C	ENSP00000347134:p.Ile403Thr		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406663	0.62399	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.32515	1.45;1.45;1.45	5.78	5.78	0.91487	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.162288	0.27981	N	0.017061	T	0.28267	0.0698	L	0.29908	0.895	0.50039	D	0.999841	B;B	0.22003	0.063;0.063	B;B	0.29440	0.102;0.102	T	0.06481	-1.0824	10	0.66056	D	0.02	-7.1746	14.9254	0.70875	0.0:0.0:0.0:1.0	.	349;403	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	T	403;222;349	ENSP00000347134:I403T;ENSP00000446452:I222T;ENSP00000369717:I349T	ENSP00000347134:I403T	I	+	2	0	NET1	5488060	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	7.970000	0.88000	2.208000	0.71279	0.455000	0.32223	ATT		0.403	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		C	5498060	T	C	5498060	3	2	219	1	0	0	0	0	1	0	0	0	10340	1493	52	3	1347	3	NET1	10	5498060	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10		5498060	130036687	53	13217											
SVIL	6840	broad.mit.edu;ucsc.edu	37	10	29815982	29815982	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr10:29815982T>G	ENST00000355867.4	-	13	3002	c.2250A>C	c.(2248-2250)gaA>gaC	p.E750D	SVIL_ENST00000375398.2_Missense_Mutation_p.E750D|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	750					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.E750D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGGGGATAGGTTCACTTTAAA	0.468																																																1	Substitution - Missense(1)	kidney(1)											46	40	42					10																	29815982		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2250A>C	10.37:g.29815982T>G	ENSP00000348128:p.Glu750Asp		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223455	0.39300	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.11821	2.74;2.74	5.81	-0.838	0.10762	.	0.291770	0.38111	N	0.001819	T	0.12475	0.0303	M	0.69823	2.125	0.80722	D	1	B	0.14012	0.009	B	0.14578	0.011	T	0.10245	-1.0638	9	.	.	.	-16.4452	5.5653	0.17167	0.1281:0.3337:0.0:0.5382	.	750	O95425	SVIL_HUMAN	D	750	ENSP00000364547:E750D;ENSP00000348128:E750D	.	E	-	3	2	SVIL	29855988	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	1.253000	0.32886	-0.401000	0.07644	-0.290000	0.09829	GAA		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			G	29815982	T	G	29815982	3	3	219	1	0	0	0	0	1	0	0	0	15426	1722	60	5	4498	5	SVIL	10	29815982	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	24317922	29815982	105718765	54	13218											
C10orf12	26148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	98743198	98743198	+	Missense_Mutation	SNP	T	T	G	rs149307894		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr10:98743198T>G	ENST00000286067.2	+	1	2158	c.2051T>G	c.(2050-2052)gTa>gGa	p.V684G		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	684								p.V684G(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTGAATGAGGTAGACAACGAA	0.512																																																1	Substitution - Missense(1)	kidney(1)											78	69	72					10																	98743198		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2051T>G	10.37:g.98743198T>G	ENSP00000286067:p.Val684Gly		Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	T	5.557	0.287554	0.10513	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.08008	3.14	5.67	-6.18	0.02085	.	1.732920	0.03694	N	0.247511	T	0.05364	0.0142	N	0.24115	0.695	0.20403	N	0.999905	B	0.02656	0.0	B	0.06405	0.002	T	0.39333	-0.9619	10	0.23891	T	0.37	0.5052	7.703	0.28634	0.0:0.2844:0.4198:0.2958	.	684	Q8N655	CJ012_HUMAN	G	684;518	ENSP00000286067:V684G	ENSP00000286067:V684G	V	+	2	0	C10orf12	98733188	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.683000	0.01934	-0.938000	0.03714	-0.337000	0.08149	GTA		0.512	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		G	98743198	T	G	98743198	3	3	219	1	0	0	0	0	1	0	0	0	1591	1638	57	5	2053	5	C10orf12	10	98743198	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	68927216	98743198	36791549	55	13219											
PPRC1	23082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103901173	103901173	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr10:103901173G>A	ENST00000278070.2	+	5	2947	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I	PPRC1_ENST00000413464.2_Missense_Mutation_p.V970I|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	970	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V970I(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCTGCCCCAGTCTCACCTTA	0.627																																																1	Substitution - Missense(1)	kidney(1)											66	59	62					10																	103901173		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2908G>A	10.37:g.103901173G>A	ENSP00000278070:p.Val970Ile		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466994	0.43839	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.25250	1.83;1.81	5.79	4.89	0.63831	.	0.084168	0.44902	D	0.000412	T	0.17874	0.0429	L	0.29908	0.895	0.25882	N	0.983571	B;B;B	0.17268	0.012;0.021;0.012	B;B;B	0.15484	0.006;0.013;0.006	T	0.13282	-1.0515	10	0.48119	T	0.1	.	7.7986	0.29162	0.0805:0.0:0.7201:0.1994	.	970;850;970	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	I	970	ENSP00000278070:V970I;ENSP00000399743:V970I	ENSP00000278070:V970I	V	+	1	0	PPRC1	103891163	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.031000	0.13710	1.459000	0.47892	0.462000	0.41574	GTC		0.627	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		A	103901173	G	A	103901173	3	1	219	1	0	0	0	0	1	0	0	0	12415	1029	36	2	2926	2	PPRC1	10	103901173	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	5157975	103901173	31633574	56	13220											
KRTAP5-5	439915	broad.mit.edu;hgsc.bcm.edu	37	11	1651231	1651231	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:1651231G>T	ENST00000399676.2	+	1	199	c.161G>T	c.(160-162)gGc>gTc	p.G54V		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	54						keratin filament (GO:0045095)		p.G54V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ggctgtgcgggctgtggggga	0.682																																																1	Substitution - Missense(1)	kidney(1)											36	48	44					11																	1651231		2134	4203	6337	SO:0001583	missense	439915			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.161G>T	11.37:g.1651231G>T	ENSP00000382584:p.Gly54Val		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	g	5.097	0.203486	0.09704	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01099	5.34	1.52	1.52	0.23074	.	.	.	.	.	T	0.02304	0.0071	L	0.29908	0.895	0.41455	D	0.988003	D	0.76494	0.999	D	0.71184	0.972	T	0.68625	-0.5359	9	0.29301	T	0.29	.	6.9639	0.24613	0.0:0.0:1.0:0.0	.	54	Q701N2	KRA55_HUMAN	V	54;52	ENSP00000382584:G54V	ENSP00000382584:G54V	G	+	2	0	KRTAP5-5	1607807	0.881000	0.30235	0.955000	0.39395	0.683000	0.39861	1.386000	0.34419	0.751000	0.32900	0.456000	0.33151	GGC		0.682	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			T	1651231	G	T	1651231	3	4	219	1	0	0	0	0	1	0	0	0	8566	1203	42	4	163	4	KRTAP5-5	11	1651231	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10		1651231	133355285	57	13221											
OR52W1	120787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6220794	6220795	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:6220794_6220795CC>AA	ENST00000311352.2	+	1	419_420	c.341_342CC>AA	c.(340-342)gCC>gAA	p.A114E	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A114A(1)|p.A114D(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACTGACTGCCATGGAATCAG	0.569																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	120787			AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"GPCR / Class A : Olfactory receptors"	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	Exception_encountered	11.37:g.6220794_6220795delinsAA	ENSP00000309673:p.Ala114Glu		Q8NH78	Missense_Mutation|Silent	SNP	ENST00000311352.2	37	CCDS31407.1																																																																																				0.569	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		AA	6220795	CC	AA	6220794	3	1	219	1	0	0	0	0	1	0	0	0	11134	739	26	4	343	4	OR52W1	11	6220794	Missense_Mutation	DNP	CC	TCGA-B0-5701-01A-11D-1534-10	4569563	6220794	128785722	58	13222											
CCDC73	493860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32637578	32637578	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:32637578T>A	ENST00000335185.5	-	15	1326	c.1283A>T	c.(1282-1284)gAa>gTa	p.E428V	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	428								p.E428V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CATATTTTCTTCCCTTATTTC	0.279																																																1	Substitution - Missense(1)	kidney(1)											61	56	57					11																	32637578		1779	4053	5832	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1283A>T	11.37:g.32637578T>A	ENSP00000335325:p.Glu428Val		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.295043	0.40594	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.34	-1.6	0.08426	.	1.115670	0.06668	N	0.765632	T	0.19208	0.0461	N	0.19112	0.55	0.24807	N	0.992665	B;P	0.36535	0.16;0.557	B;B	0.33521	0.087;0.165	T	0.20240	-1.0281	9	0.26408	T	0.33	.	4.9665	0.14093	0.0:0.2724:0.3957:0.3319	.	418;428	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	V	428	.	ENSP00000335325:E428V	E	-	2	0	CCDC73	32594154	0.185000	0.23213	0.647000	0.29507	0.719000	0.41307	-0.031000	0.12287	-0.042000	0.13535	0.477000	0.44152	GAA		0.279	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		A	32637578	T	A	32637578	3	1	219	1	0	0	0	0	1	0	0	0	2848	1783	62	5	1972	5	CCDC73	11	32637578	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	26416784	32637578	102368938	59	13223											
OR5M1	390168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56380039	56380039	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:56380039C>A	ENST00000526538.1	-	1	939	c.940G>T	c.(940-942)Gca>Tca	p.A314S		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A314S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GCCTAAACTGCAATTTTATGA	0.378																																																1	Substitution - Missense(1)	kidney(1)											118	117	117					11																	56380039		1847	4094	5941	SO:0001583	missense	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.940G>T	11.37:g.56380039C>A	ENSP00000435416:p.Ala314Ser		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503119	0.26949	.	.	ENSG00000255012	ENST00000526538	T	0.03181	4.02	3.78	0.63	0.17693	.	.	.	.	.	T	0.01421	0.0046	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.48399	-0.9039	9	0.07644	T	0.81	.	3.4003	0.07321	0.2086:0.5565:0.0:0.2349	.	314	Q8NGP8	OR5M1_HUMAN	S	314	ENSP00000435416:A314S	ENSP00000435416:A314S	A	-	1	0	OR5M1	56136615	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-0.094000	0.11094	-0.070000	0.12908	0.280000	0.19369	GCA		0.378	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		A	56380039	C	A	56380039	3	1	219	1	0	0	0	0	1	0	0	0	11174	710	25	4	11	4	OR5M1	11	56380039	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	23742461	56380039	78626477	60	13224											
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103058111	103058111	+	Missense_Mutation	SNP	A	A	T	rs568202877		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:103058111A>T	ENST00000375735.2	+	43	7080	c.6936A>T	c.(6934-6936)caA>caT	p.Q2312H	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q2312H	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2312	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGTCCACTCAAATTGCTACAG	0.413																																																0													112	110	111					11																	103058111		2029	4198	6227	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6936A>T	11.37:g.103058111A>T	ENSP00000364887:p.Gln2312His		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334260	0.24253	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.39787	1.06;1.06	5.12	-5.88	0.02290	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.35335	0.0928	M	0.74647	2.275	0.29904	N	0.824124	B;B	0.10296	0.003;0.003	B;B	0.20577	0.03;0.017	T	0.41998	-0.9477	9	0.15499	T	0.54	.	8.3163	0.32102	0.5342:0.1906:0.2751:0.0	.	2312;2312	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	H	2312	ENSP00000364887:Q2312H;ENSP00000381167:Q2312H	ENSP00000364887:Q2312H	Q	+	3	2	DYNC2H1	102563321	0.180000	0.23148	0.004000	0.12327	0.523000	0.34469	-0.453000	0.06778	-1.016000	0.03371	-0.250000	0.11733	CAA		0.413	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103058111	A	T	103058111	3	4	219	1	0	0	0	0	1	0	0	0	4848	11	1	5	7106	5	DYNC2H1	11	103058111	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10	46678072	103058111	31948405	61	13225											
CEP164	22897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117244472	117244472	+	Silent	SNP	G	G	A	rs199723361		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:117244472G>A	ENST00000278935.3	+	10	1305	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	386					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.L386L(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TCCAGGAACTGGAAATTAGTG	0.512																																																1	Substitution - coding silent(1)	kidney(1)											169	151	157					11																	117244472		2201	4296	6497	SO:0001819	synonymous_variant	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1158G>A	11.37:g.117244472G>A			Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	CCDS31683.1																																																																																				0.512	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		A	117244472	G	A	117244472	2	1	219	1	0	0	0	0	0	0	0	1	3251	1335	47	2		2	CEP164	11	117244472	Silent	SNP	G	TCGA-B0-5701-01A-11D-1534-10	14186361	117244472	17762044	62	13226											
AMICA1	120425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118071315	118071315	+	Missense_Mutation	SNP	G	G	A	rs148107592		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:118071315G>A	ENST00000356289.5	-	7	958	c.785C>T	c.(784-786)cCg>cTg	p.P262L	AMICA1_ENST00000533261.1_Missense_Mutation_p.P251L|AMICA1_ENST00000292067.7_Missense_Mutation_p.P252L|AMICA1_ENST00000526620.1_Missense_Mutation_p.P223L	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	262					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.P252L(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CAGGGCTGCCGGGGTCACCAG	0.522																																																1	Substitution - Missense(1)	kidney(1)						G	LEU/PRO,LEU/PRO	0,4400		0,0,2200	71	74	73		785,755	3.1	0	11	dbSNP_134	73	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	AMICA1	NM_001098526.1,NM_153206.2	98,98	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	262/395,252/385	118071315	1,12991	2200	4296	6496	SO:0001583	missense	120425			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.785C>T	11.37:g.118071315G>A	ENSP00000348635:p.Pro262Leu		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767226	0.69878	0.0	1.16E-4	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	D;D;D;D	0.98493	-4.52;-4.45;-4.66;-4.96	5.12	3.14	0.36123	.	0.312733	0.23571	N	0.046743	D	0.95124	0.8420	L	0.29908	0.895	0.09310	N	0.999999	P;P;P;P;P	0.52463	0.921;0.921;0.921;0.921;0.953	B;B;B;B;P	0.49140	0.397;0.397;0.397;0.397;0.601	D	0.88793	0.3279	10	0.15499	T	0.54	-2.2563	5.7577	0.18182	0.0998:0.0:0.7068:0.1934	.	262;223;262;251;252	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	L	262;252;251;223	ENSP00000348635:P262L;ENSP00000292067:P252L;ENSP00000436117:P251L;ENSP00000431218:P223L	ENSP00000292067:P252L	P	-	2	0	AMICA1	117576525	0.001000	0.12720	0.024000	0.17045	0.508000	0.34012	0.910000	0.28571	2.368000	0.80403	0.561000	0.74099	CCG		0.522	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		A	118071315	G	A	118071315	3	1	219	1	0	0	0	0	1	0	0	0	574	1116	39	1	415	1	AMICA1	11	118071315	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	826843	118071315	16935201	63	13227											
TECTA	7007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	120989265	120989265	+	Silent	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:120989265G>A	ENST00000392793.1	+	7	1312	c.1041G>A	c.(1039-1041)ttG>ttA	p.L347L	TECTA_ENST00000264037.2_Silent_p.L347L			O75443	TECTA_HUMAN	tectorin alpha	347	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.L347L(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGCCTACTTGCTGGCCCGAC	0.577																																																1	Substitution - coding silent(1)	kidney(1)											140	124	129					11																	120989265		2203	4299	6502	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1041G>A	11.37:g.120989265G>A				Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		A	120989265	G	A	120989265	2	1	219	1	0	0	0	0	0	0	0	1	15752	1310	46	2		2	TECTA	11	120989265	Silent	SNP	G	TCGA-B0-5701-01A-11D-1534-10	2917950	120989265	14017251	64	13228											
OR10G7	390265	broad.mit.edu;hgsc.bcm.edu	37	11	123909163	123909163	+	Silent	SNP	G	G	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:123909163G>C	ENST00000330487.5	-	1	554	c.546C>G	c.(544-546)ccC>ccG	p.P182P		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P182P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTTTCAGGATGGGCGGTGCGT	0.532																																																1	Substitution - coding silent(1)	kidney(1)											213	205	208					11																	123909163		2201	4297	6498	SO:0001819	synonymous_variant	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.546C>G	11.37:g.123909163G>C			Q6IFE8	Silent	SNP	ENST00000330487.5	37	CCDS31705.1																																																																																				0.532	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		C	123909163	G	C	123909163	2	2	219	1	0	0	0	0	0	0	0	1	10904	1335	47	4		4	OR10G7	11	123909163	Silent	SNP	G	TCGA-B0-5701-01A-11D-1534-10	2919898	123909163	11097353	65	13229											
COL2A1	1280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48376305	48376305	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:48376305C>T	ENST00000380518.3	-	34	2445	c.2281G>A	c.(2281-2283)Gct>Act	p.A761T	COL2A1_ENST00000337299.6_Missense_Mutation_p.A692T|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	761	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.A692T(1)|p.A761T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTGGGCCCAGCGATACCAGCT	0.632																																																2	Substitution - Missense(2)	kidney(2)											42	41	41					12																	48376305		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2281G>A	12.37:g.48376305C>T	ENSP00000369889:p.Ala761Thr		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662374	0.47572	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93426	-3.22;-3.22	5.55	1.27	0.21489	.	0.302055	0.32081	N	0.006613	D	0.88016	0.6324	L	0.28608	0.87	0.28582	N	0.910091	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.79220	-0.1893	10	0.49607	T	0.09	.	14.242	0.65963	0.6334:0.3666:0.0:0.0	.	692;761	P02458-1;P02458	.;CO2A1_HUMAN	T	761;692;692	ENSP00000369889:A761T;ENSP00000338213:A692T	ENSP00000338213:A692T	A	-	1	0	COL2A1	46662572	0.002000	0.14202	0.341000	0.25589	0.959000	0.62525	-0.076000	0.11412	0.245000	0.21373	0.561000	0.74099	GCT		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		T	48376305	C	T	48376305	3	4	219	1	0	0	0	0	1	0	0	0	3689	768	27	1	2266	1	COL2A1	12	48376305	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10		48376305	85475590	66	13230											
MLL2	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49422725	49422725	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:49422725T>A	ENST00000301067.7	-	45	14267	c.14268A>T	c.(14266-14268)aaA>aaT	p.K4756N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4756					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.K4486N(1)|p.K4756N(1)									CCCCATAAGGTTTGGTATCTG	0.552																																																2	Substitution - Missense(2)	kidney(2)											133	137	136					12																	49422725		1894	4123	6017	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14268A>T	12.37:g.49422725T>A	ENSP00000301067:p.Lys4756Asn		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819278	0.32145	.	.	ENSG00000167548	ENST00000301067	D	0.81499	-1.5	4.94	0.867	0.19085	.	0.204155	0.24587	N	0.037260	T	0.72534	0.3472	L	0.46157	1.445	0.36252	D	0.853955	P	0.44877	0.845	B	0.43478	0.421	T	0.73427	-0.3986	10	0.87932	D	0	.	6.1096	0.20094	0.0:0.4562:0.0:0.5438	.	4756	O14686	MLL2_HUMAN	N	4756	ENSP00000301067:K4756N	ENSP00000301067:K4756N	K	-	3	2	MLL2	47708992	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.057000	0.30492	0.328000	0.23435	0.383000	0.25322	AAA		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49422725	T	A	49422725	3	1	219	1	0	0	0	0	1	0	0	0	9623	1722	60	5	2385	5	MLL2	12	49422725	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	1046420	49422725	84429170	67	13231											
MAP3K12	7786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53877445	53877445	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:53877445A>G	ENST00000267079.2	-	10	1547	c.1322T>C	c.(1321-1323)aTg>aCg	p.M441T	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Missense_Mutation_p.M474T|MAP3K12_ENST00000547488.1_Missense_Mutation_p.M474T	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	441					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.M474T(1)|p.M441T(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ATTAAGTTCCATATACAGGTT	0.547																																																2	Substitution - Missense(2)	kidney(2)											157	134	142					12																	53877445		2203	4300	6503	SO:0001583	missense	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1322T>C	12.37:g.53877445A>G	ENSP00000267079:p.Met441Thr		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480725	0.44044	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.75938	-0.96;-0.98;-0.98	5.12	5.12	0.69794	.	0.000000	0.56097	D	0.000033	T	0.70090	0.3184	L	0.52573	1.65	0.53005	D	0.999966	B;B	0.24882	0.113;0.069	B;B	0.30251	0.113;0.053	T	0.66268	-0.5966	10	0.30078	T	0.28	.	14.3375	0.66600	1.0:0.0:0.0:0.0	.	474;441	G3V1Y2;Q12852	.;M3K12_HUMAN	T	441;474;474	ENSP00000267079:M441T;ENSP00000449038:M474T;ENSP00000448689:M474T	ENSP00000267079:M441T	M	-	2	0	MAP3K12	52163712	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.357000	0.79456	2.288000	0.76882	0.533000	0.62120	ATG		0.547	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		G	53877445	A	G	53877445	3	3	219	1	0	0	0	0	1	0	0	0	9248	217	8	3	1281	3	MAP3K12	12	53877445	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10	4454720	53877445	79974450	68	13232											
LACRT	90070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55026135	55026135	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:55026135G>A	ENST00000257867.4	-	3	196	c.143C>T	c.(142-144)gCa>gTa	p.A48V	LACRT_ENST00000547511.1_Missense_Mutation_p.A48V	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	48					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)	p.A48V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						AGCTGGTTCTGCTGGACCTGA	0.502																																																1	Substitution - Missense(1)	kidney(1)											186	173	177					12																	55026135		2203	4300	6503	SO:0001583	missense	90070			AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.143C>T	12.37:g.55026135G>A	ENSP00000257867:p.Ala48Val			Missense_Mutation	SNP	ENST00000257867.4	37	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	G	9.194	1.026738	0.19512	.	.	ENSG00000135413	ENST00000546721;ENST00000547511;ENST00000257867	.	.	.	2.01	-4.01	0.04045	.	2.083100	0.03036	N	0.152750	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.16289	0.015	T	0.16958	-1.0385	9	0.87932	D	0	.	2.5861	0.04830	0.3804:0.0:0.2616:0.358	.	48	Q9GZZ8	LACRT_HUMAN	V	18;48;48	.	ENSP00000257867:A48V	A	-	2	0	LACRT	53312402	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.692000	0.01918	-1.400000	0.02061	0.313000	0.20887	GCA		0.502	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277		A	55026135	G	A	55026135	3	1	219	1	0	0	0	0	1	0	0	0	8598	1319	46	2	285	2	LACRT	12	55026135	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	1148690	55026135	78825760	69	13233											
SMARCC2	6601	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56567525	56567525	+	Silent	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:56567525A>G	ENST00000267064.4	-	17	1691	c.1605T>C	c.(1603-1605)gcT>gcC	p.A535A	SMARCC2_ENST00000347471.4_Silent_p.A535A|SMARCC2_ENST00000550164.1_Silent_p.A535A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Silent_p.A535A	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	535					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.A535A(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGGTGTGTCAGCCAAGACAT	0.567																																																2	Substitution - coding silent(2)	kidney(2)											145	147	147					12																	56567525		2203	4300	6503	SO:0001819	synonymous_variant	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1605T>C	12.37:g.56567525A>G			F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	CCDS8907.1																																																																																				0.567	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			G	56567525	A	G	56567525	2	3	219	1	0	0	0	0	0	0	0	1	14782	175	7	3		3	SMARCC2	12	56567525	Silent	SNP	A	TCGA-B0-5701-01A-11D-1534-10	1541390	56567525	77284370	70	13234											
TRAFD1	10906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112586091	112586091	+	Missense_Mutation	SNP	G	G	A	rs142954248	byFrequency	TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:112586091G>A	ENST00000257604.5	+	8	1758	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	Y_RNA_ENST00000363265.1_RNA|TRAFD1_ENST00000412615.2_Missense_Mutation_p.V381M	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	381					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)	p.V381M(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGAAGAGGAGGTGCTGTTCCA	0.522																																																1	Substitution - Missense(1)	kidney(1)											121	109	113					12																	112586091		2203	4300	6503	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1141G>A	12.37:g.112586091G>A	ENSP00000257604:p.Val381Met		A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053489	0.75960	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.39997	1.05;1.05	5.95	5.06	0.68205	.	0.287831	0.29791	N	0.011199	T	0.60573	0.2279	M	0.76002	2.32	0.46749	D	0.999183	D	0.89917	1.0	D	0.74023	0.982	T	0.61773	-0.6994	10	0.59425	D	0.04	-22.9631	9.4679	0.38824	0.1587:0.0:0.8413:0.0	.	381	O14545	TRAD1_HUMAN	M	381	ENSP00000396526:V381M;ENSP00000257604:V381M	ENSP00000257604:V381M	V	+	1	0	TRAFD1	111070474	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	2.942000	0.49018	2.824000	0.97209	0.655000	0.94253	GTG		0.522	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		A	112586091	G	A	112586091	3	1	219	1	0	0	0	0	1	0	0	0	16452	1261	44	2	1167	2	TRAFD1	12	112586091	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	56018566	112586091	21265804	71	13235											
OAS1	4938	hgsc.bcm.edu;ucsc.edu	37	12	113357245	113357246	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:113357245_113357246delAA	ENST00000202917.5	+	6	1353_1354	c.1090_1091delAA	c.(1090-1092)aaafs	p.K364fs	OAS1_ENST00000551241.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Intron	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	364					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GAGGTATCAGAAATATGGTTAC	0.515																																																0																																										SO:0001589	frameshift_variant	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1090_1091delAA	12.37:g.113357245_113357246delAA	ENSP00000202917:p.Lys364fs		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Frame_Shift_Del	DEL	ENST00000202917.5	37	CCDS41838.1																																																																																				0.515	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			-	113357246	AA	-	113357245	7	5	219	1	0	1	0	1	0	0	0	0	10801	247	9	0	1169	0	OAS1	12	113357245	Frame_Shift_Del	DEL	AA	TCGA-B0-5701-01A-11D-1534-10	771154	113357245	20494650	72	13236											
STRN3	29966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	31416465	31416465	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr14:31416465G>T	ENST00000357479.5	-	5	743	c.547C>A	c.(547-549)Ctt>Att	p.L183I	STRN3_ENST00000355683.5_Missense_Mutation_p.L183I	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	183	Calmodulin-binding. {ECO:0000255}.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L183I(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACTTCCTGAAGATACCTGTAA	0.328																																																2	Substitution - Missense(2)	kidney(2)											97	96	97					14																	31416465		2203	4299	6502	SO:0001583	missense	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.547C>A	14.37:g.31416465G>T	ENSP00000350071:p.Leu183Ile		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308376	0.95629	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.85556	-2.0;-2.0	5.9	5.9	0.94986	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93090	0.7800	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.974;0.999	P;D	0.80764	0.708;0.994	D	0.93116	0.6521	10	0.87932	D	0	-2.0104	20.2704	0.98474	0.0:0.0:1.0:0.0	.	183;183	Q13033-2;Q13033	.;STRN3_HUMAN	I	183;183;64	ENSP00000347909:L183I;ENSP00000350071:L183I	ENSP00000347909:L183I	L	-	1	0	STRN3	30486216	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.736000	0.98828	2.793000	0.96121	0.591000	0.81541	CTT		0.328	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		T	31416465	G	T	31416465	3	4	219	1	0	0	0	0	1	0	0	0	15335	942	33	4	1902	4	STRN3	14	31416465	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10		31416465	75933075	73	13237											
ADCK1	57143	broad.mit.edu	37	14	78397896	78397896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr14:78397896delC	ENST00000238561.5	+	10	1341	c.1242delC	c.(1240-1242)ctcfs	p.L414fs	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Frame_Shift_Del_p.L346fs	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	421	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCAACTACCTCCCCCAGATCA	0.607																																																0													82	57	65					14																	78397896		2203	4300	6503	SO:0001589	frameshift_variant	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1242delC	14.37:g.78397896delC	ENSP00000238561:p.Leu414fs		B3KUD5|Q6PD65|Q9UIE6	Frame_Shift_Del	DEL	ENST00000238561.5	37	CCDS9869.1																																																																																				0.607	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		-	78397896	C	-	78397896	7	5	219	1	0	1	0	1	0	0	0	0	288	842	30	0	1276	0	ADCK1	14	78397896	Frame_Shift_Del	DEL	C	TCGA-B0-5701-01A-11D-1534-10	46981431	78397896	28951644	74	13238											
EML5	161436	hgsc.bcm.edu;ucsc.edu|hgsc.bcm.edu	37	14	89168918	89168919	+	Missense_Mutation	DNP	AC	AC	TG			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr14:89168918_89168919AC>TG	ENST00000380664.5	-	14	2108_2109	c.2109_2110GT>CA	c.(2107-2112)gtGTac>gtCAac	p.Y704N	EML5_ENST00000352093.5_Missense_Mutation_p.Y704N|EML5_ENST00000554922.1_Missense_Mutation_p.Y704N			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	704						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCACATGGTACACAATTTCAC	0.342																																																0																																										SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2109_2110delinsTG	14.37:g.89168918_89168919delinsTG	ENSP00000370039:p.Tyr704Asn		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation|Silent	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																				0.342	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			TG	89168919	AC	TG	89168918	3	4	219	1	0	0	0	0	1	0	0	0	5102	391	14	5	3943	5	EML5	14	89168918	Missense_Mutation	DNP	AC	TCGA-B0-5701-01A-11D-1534-10	10771022	89168918	18180622	75	13239											
DUOX1	53905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45453967	45453967	+	Silent	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr15:45453967G>A	ENST00000321429.4	+	31	4295	c.3888G>A	c.(3886-3888)caG>caA	p.Q1296Q	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.Q1296Q|DUOX1_ENST00000561166.1_Silent_p.Q942Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1296	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.Q1296Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGCGGCCCCAGGGCTTTGAGT	0.642																																																1	Substitution - coding silent(1)	kidney(1)											61	57	58					15																	45453967		2198	4298	6496	SO:0001819	synonymous_variant	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3888G>A	15.37:g.45453967G>A			A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																				0.642	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		A	45453967	G	A	45453967	2	1	219	1	0	0	0	0	0	0	0	1	4802	991	35	2		2	DUOX1	15	45453967	Silent	SNP	G	TCGA-B0-5701-01A-11D-1534-10		45453967	57077425	76	13240	99	2									
DUOX1	53905	broad.mit.edu;ucsc.edu	37	15	45453969	45453969	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr15:45453969G>C	ENST00000321429.4	+	31	4297	c.3890G>C	c.(3889-3891)gGc>gCc	p.G1297A	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.G1297A|DUOX1_ENST00000561166.1_Missense_Mutation_p.G943A	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1297	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.G1297A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGGCCCCAGGGCTTTGAGTAC	0.637																																																1	Substitution - Missense(1)	kidney(1)											64	59	61					15																	45453969		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3890G>C	15.37:g.45453969G>C	ENSP00000317997:p.Gly1297Ala		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040750	0.55003	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.91996	-2.95;-2.95	4.11	4.11	0.48088	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.106540	0.64402	D	0.000002	D	0.89368	0.6695	L	0.45051	1.395	0.58432	D	0.999992	P	0.39782	0.688	P	0.45712	0.491	D	0.87877	0.2675	10	0.46703	T	0.11	-28.1821	7.9239	0.29863	0.1126:0.0:0.8874:0.0	.	1297	Q9NRD9	DUOX1_HUMAN	A	1297	ENSP00000317997:G1297A;ENSP00000373689:G1297A	ENSP00000317997:G1297A	G	+	2	0	DUOX1	43241261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.462000	0.60121	2.273000	0.75805	0.555000	0.69702	GGC		0.637	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		C	45453969	G	C	45453969	3	2	219	1	0	0	0	0	1	0	0	0	4802	1203	42	4	4004	4	DUOX1	15	45453969	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	2	45453969	57077423	77	13241	99	2									
SALL1	6299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	51174807	51174807	+	Silent	SNP	G	G	C	rs143605364		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr16:51174807G>C	ENST00000251020.4	-	2	1359	c.1326C>G	c.(1324-1326)tcC>tcG	p.S442S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Silent_p.S345S|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	442					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S442S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATGCCTCATCGGAAGTACTTT	0.502																																					GBM(103;1352 1446 1855 4775 8890)											1	Substitution - coding silent(1)	kidney(1)											109	101	104					16																	51174807		2198	4300	6498	SO:0001819	synonymous_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1326C>G	16.37:g.51174807G>C			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.502	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		C	51174807	G	C	51174807	2	2	219	1	0	0	0	0	0	0	0	1	13816	1103	39	4		4	SALL1	16	51174807	Silent	SNP	G	TCGA-B0-5701-01A-11D-1534-10		51174807	39179946	78	13242											
CDH11	1009	broad.mit.edu;hgsc.bcm.edu	37	16	65038638	65038638	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr16:65038638C>T	ENST00000268603.4	-	3	750	c.135G>A	c.(133-135)ggG>ggA	p.G45G	CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000394156.3_Silent_p.G45G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	45					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G45G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTAGCACCTGCCCCTCCTTGC	0.652			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	1	Substitution - coding silent(1)	kidney(1)											49	41	43					16																	65038638		2202	4300	6502	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.135G>A	16.37:g.65038638C>T			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	CCDS10803.1																																																																																				0.652	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		T	65038638	C	T	65038638	2	4	219	1	0	0	0	0	0	0	0	1	3099	726	26	2		2	CDH11	16	65038638	Silent	SNP	C	TCGA-B0-5701-01A-11D-1534-10	13863831	65038638	25316115	79	13243											
NUDT7	283927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	77775769	77775769	+	Missense_Mutation	SNP	A	A	C	rs551181072		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr16:77775769A>C	ENST00000268533.5	+	4	708	c.639A>C	c.(637-639)caA>caC	p.Q213H	NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.Q160H	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	213					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.Q213H(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TTGAGGTTCAATTTAATCTTA	0.388																																																1	Substitution - Missense(1)	kidney(1)											63	58	60					16																	77775769		1825	4090	5915	SO:0001583	missense	283927			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"Nudix motif containing"	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.639A>C	16.37:g.77775769A>C	ENSP00000268533:p.Gln213His		B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	A	8.440	0.850629	0.17034	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.43688	1.5;0.94	5.4	-3.36	0.04913	.	0.650666	0.15616	N	0.253132	T	0.15089	0.0364	N	0.08118	0	0.20403	N	0.999905	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.002	T	0.07424	-1.0773	10	0.40728	T	0.16	-3.0372	0.3921	0.00412	0.2733:0.2366:0.1441:0.346	.	160;213	B4DLE5;P0C024	.;NUDT7_HUMAN	H	213;160	ENSP00000268533:Q213H;ENSP00000387707:Q160H	ENSP00000268533:Q213H	Q	+	3	2	NUDT7	76333270	0.000000	0.05858	0.001000	0.08648	0.516000	0.34256	-2.812000	0.00754	-1.061000	0.03185	0.459000	0.35465	CAA		0.388	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			C	77775769	A	C	77775769	3	2	219	1	0	0	0	0	1	0	0	0	10746	98	4	5	653	5	NUDT7	16	77775769	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10	12737131	77775769	12578984	80	13244											
RABEP1	9135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5264813	5264813	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:5264813C>T	ENST00000546142.2	+	9	1593	c.1406C>T	c.(1405-1407)aCc>aTc	p.T469I	RABEP1_ENST00000537505.1_Missense_Mutation_p.T426I|RABEP1_ENST00000341923.6_Missense_Mutation_p.T469I|NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000262477.6_Missense_Mutation_p.T469I|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Missense_Mutation_p.T469I			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	469					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.T469I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TTTATGTTAACCAAAGATCAG	0.498																																																1	Substitution - Missense(1)	kidney(1)											115	115	115					17																	5264813		2060	4198	6258	SO:0001583	missense	9135			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1406C>T	17.37:g.5264813C>T	ENSP00000437701:p.Thr469Ile		B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852442	0.91355	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.55234	0.54;0.56;0.54;0.56;0.53	5.54	5.54	0.83059	Rabaptin coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.998	T	0.62224	-0.6899	10	0.34782	T	0.22	-7.4544	18.8588	0.92264	0.0:1.0:0.0:0.0	.	426;426;462;469;469	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	I	469;469;462;469;469;426	ENSP00000262477:T469I;ENSP00000386150:T469I;ENSP00000437701:T469I;ENSP00000339569:T469I;ENSP00000445408:T426I	ENSP00000262477:T469I	T	+	2	0	RABEP1	5205537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.686000	0.84128	2.779000	0.95612	0.655000	0.94253	ACC		0.498	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		T	5264813	C	T	5264813	3	4	219	1	0	0	0	0	1	0	0	0	12967	507	18	2	1440	2	RABEP1	17	5264813	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10		5264813	75930397	81	13245											
DNAH2	146754	hgsc.bcm.edu;ucsc.edu	37	17	7663182	7663183	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:7663182_7663183delTC	ENST00000572933.1	+	17	4171_4172	c.2711_2712delTC	c.(2710-2712)atcfs	p.I904fs	DNAH2_ENST00000389173.2_Frame_Shift_Del_p.I904fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	904	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTTTCCACCATCTCTGTCTTCT	0.535																																																0										186,4078		92,2,2038						4.3	1			281	314,7940		156,2,3969	no	frameshift	DNAH2	NM_020877.2		248,4,6007	A1A1,A1R,RR		3.8042,4.3621,3.9942				500,12018				SO:0001589	frameshift_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2711_2712delTC	17.37:g.7663184_7663185delTC	ENSP00000458355:p.Ile904fs		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Del	DEL	ENST00000572933.1	37	CCDS32551.1																																																																																				0.535	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		-	7663183	TC	-	7663182	7	5	219	1	0	1	0	1	0	0	0	0	4604	1435	50	0	2773	0	DNAH2	17	7663182	Frame_Shift_Del	DEL	TC	TCGA-B0-5701-01A-11D-1534-10	2398369	7663182	73532028	82	13246											
ZNF207	7756	broad.mit.edu;ucsc.edu	37	17	30694855	30694855	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:30694855C>A	ENST00000321233.6	+	9	1092	c.938C>A	c.(937-939)aCa>aAa	p.T313K	ZNF207_ENST00000394673.2_Missense_Mutation_p.T298K|ZNF207_ENST00000394670.4_Missense_Mutation_p.T329K|ZNF207_ENST00000341711.6_Missense_Mutation_p.T230K|ZNF207_ENST00000342555.6_Missense_Mutation_p.T332K|ZNF207_ENST00000577908.1_Missense_Mutation_p.T329K	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	313					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T313K(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCCCTGCAACAACTACAGAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											130	120	123					17																	30694855		2203	4300	6503	SO:0001583	missense	7756			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.938C>A	17.37:g.30694855C>A	ENSP00000322777:p.Thr313Lys		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842137	0.91197	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.44881	0.92;0.91	6.03	5.07	0.68467	.	0.091785	0.85682	D	0.000000	T	0.52451	0.1735	L	0.46157	1.445	0.49483	D	0.999797	B;B;B;B;D	0.67145	0.144;0.144;0.144;0.144;0.996	B;B;B;B;D	0.77557	0.035;0.035;0.035;0.035;0.99	T	0.49495	-0.8934	10	0.05959	T	0.93	.	15.1776	0.72927	0.0:0.9329:0.0:0.0671	.	282;332;329;298;313	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	K	329;282;332;298;230;313	ENSP00000378165:T329K;ENSP00000344913:T230K	ENSP00000322777:T298K	T	+	2	0	ZNF207	27718968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.074000	0.71253	1.570000	0.49709	0.557000	0.71058	ACA		0.428	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			A	30694855	C	A	30694855	3	1	219	1	0	0	0	0	1	0	0	0	17770	478	17	4	1024	4	ZNF207	17	30694855	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	23031673	30694855	50500355	83	13247											
GPR179	440435	hgsc.bcm.edu;ucsc.edu	37	17	36483373	36483385	+	Frame_Shift_Del	DEL	TTCTTTCAGTCAC	TTCTTTCAGTCAC	-	rs181425775		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	TTCTTTCAGTCAC	TTCTTTCAGTCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:36483373_36483385delTTCTTTCAGTCAC	ENST00000342292.4	-	11	6087_6099	c.6067_6079delGTGACTGAAAGAA	c.(6067-6081)gtgactgaaagaatcfs	p.VTERI2023fs	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2023					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGACAGGGATTCTTTCAGTCACTTCCCAGGGA	0.54																																																0																																										SO:0001589	frameshift_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6067_6079delGTGACTGAAAGAA	17.37:g.36483373_36483385delTTCTTTCAGTCAC	ENSP00000345060:p.Val2023fs			Frame_Shift_Del	DEL	ENST00000342292.4	37	CCDS42308.1																																																																																				0.54	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			-	36483385	TTCTTTCAGTCAC	-	36483373	7	5	219	1	0	1	0	1	0	0	0	0	6676	1493	52	0	1028	0	GPR179	17	36483373	Frame_Shift_Del	DEL	TTCTTTCAGTCAC	TCGA-B0-5701-01A-11D-1534-10	5788518	36483373	44711837	84	13248											
GPATCH8	23131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42477558	42477558	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:42477558T>A	ENST00000591680.1	-	8	1917	c.1887A>T	c.(1885-1887)agA>agT	p.R629S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R551S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	629							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R629S(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTGCGTCCATTCTGCCTCCTG	0.552											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											54	53	53					17																	42477558		2203	4300	6503	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1887A>T	17.37:g.42477558T>A	ENSP00000467556:p.Arg629Ser	909	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	T	9.342	1.063282	0.20067	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.11063	2.81	4.67	3.59	0.41128	.	0.393276	0.25708	N	0.028833	T	0.06325	0.0163	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41431	-0.9509	10	0.13853	T	0.58	-8.4633	7.6433	0.28307	0.0:0.0758:0.1392:0.785	.	629	Q9UKJ3	GPTC8_HUMAN	S	629;551	ENSP00000395016:R551S	ENSP00000335486:R629S	R	-	3	2	GPATCH8	39833084	0.002000	0.14202	0.516000	0.27786	0.985000	0.73830	1.168000	0.31859	0.816000	0.34421	0.402000	0.26972	AGA		0.552	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		A	42477558	T	A	42477558	3	1	219	1	0	0	0	0	1	0	0	0	6596	1780	62	5	2625	5	GPATCH8	17	42477558	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	5994185	42477558	38717652	85	13249											
TRIM37	4591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57079057	57079057	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:57079057T>G	ENST00000262294.7	-	23	2973	c.2714A>C	c.(2713-2715)gAc>gCc	p.D905A	TRIM37_ENST00000393066.3_Missense_Mutation_p.D905A|TRIM37_ENST00000393065.2_Missense_Mutation_p.D871A|TRIM37_ENST00000376149.3_Intron	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	905					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D905A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACATTCAATGTCACTGTCGCT	0.473									Mulibrey Nanism																																							1	Substitution - Missense(1)	kidney(1)											142	106	118					17																	57079057		2203	4300	6503	SO:0001583	missense	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2714A>C	17.37:g.57079057T>G	ENSP00000262294:p.Asp905Ala		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504261	0.85176	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000393065	T;T;T	0.44083	1.33;1.33;0.93	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.58222	-0.7674	10	0.87932	D	0	-19.3575	15.882	0.79211	0.0:0.0:0.0:1.0	.	871;905	F8WEE6;O94972	.;TRI37_HUMAN	A	905;905;871	ENSP00000376785:D905A;ENSP00000262294:D905A;ENSP00000376784:D871A	ENSP00000262294:D905A	D	-	2	0	TRIM37	54433839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.052000	0.71080	2.155000	0.67459	0.533000	0.62120	GAC		0.473	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		G	57079057	T	G	57079057	3	3	219	1	0	0	0	0	1	0	0	0	16516	1667	58	5	196	5	TRIM37	17	57079057	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	14601499	57079057	24116153	86	13250											
DDX42	11325	broad.mit.edu	37	17	61886961	61886961	+	Silent	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:61886961T>C	ENST00000578681.1	+	12	1795	c.1194T>C	c.(1192-1194)ctT>ctC	p.L398L	DDX42_ENST00000583590.1_Silent_p.L398L|DDX42_ENST00000359353.5_Silent_p.L279L|DDX42_ENST00000457800.2_Silent_p.L398L|DDX42_ENST00000389924.2_Silent_p.L398L	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	398	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.L398L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CTACCAATCTTCAAAGAGTCT	0.378																																																1	Substitution - coding silent(1)	kidney(1)											243	212	222					17																	61886961		2203	4300	6503	SO:0001819	synonymous_variant	11325			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1194T>C	17.37:g.61886961T>C			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	CCDS32704.1																																																																																				0.378	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		C	61886961	T	C	61886961	2	2	219	1	0	0	0	0	0	0	0	1	4364	1770	62	3		3	DDX42	17	61886961	Silent	SNP	T	TCGA-B0-5701-01A-11D-1534-10	4807904	61886961	19308249	87	13251											
TEX2	55852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62291574	62291574	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:62291574T>A	ENST00000583097.1	-	2	176	c.4A>T	c.(4-6)Aca>Tca	p.T2S	TEX2_ENST00000584379.1_Missense_Mutation_p.T2S|TEX2_ENST00000258991.3_Missense_Mutation_p.T2S			Q8IWB9	TEX2_HUMAN	testis expressed 2	2					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.T2S(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TACAGACTTGTCATTGCCGGC	0.527																																																1	Substitution - Missense(1)	kidney(1)											98	86	90					17																	62291574		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.4A>T	17.37:g.62291574T>A	ENSP00000462665:p.Thr2Ser		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37		.	.	.	.	.	.	.	.	.	.	T	11.23	1.576929	0.28092	.	.	ENSG00000136478	ENST00000258991	T	0.54479	0.57	5.07	5.07	0.68467	.	0.067975	0.64402	D	0.000011	T	0.41949	0.1181	L	0.32530	0.975	0.53688	D	0.999977	P;P	0.40970	0.734;0.615	B;B	0.35470	0.203;0.1	T	0.49409	-0.8943	10	0.87932	D	0	-10.4777	14.8276	0.70125	0.0:0.0:0.0:1.0	.	2;2	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	S	2	ENSP00000258991:T2S	ENSP00000258991:T2S	T	-	1	0	TEX2	59645306	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.553000	0.82203	1.923000	0.55706	0.254000	0.18369	ACA		0.527	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		A	62291574	T	A	62291574	3	1	219	1	0	0	0	0	1	0	0	0	15786	1667	58	5	3444	5	TEX2	17	62291574	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	404613	62291574	18903636	88	13252											
BPTF	2186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65955704	65955705	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:65955704_65955705GC>AG	ENST00000321892.4	+	26	8413_8414	c.8352_8353GC>AG	c.(8350-8355)atGCag>atAGag	p.2784_2785MQ>IE	BPTF_ENST00000424123.3_Missense_Mutation_p.2502_2503MQ>IE|BPTF_ENST00000335221.5_Missense_Mutation_p.2641_2642MQ>IE|BPTF_ENST00000306378.6_Missense_Mutation_p.2658_2659MQ>IE			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2784					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q2642E(1)|p.M2641I(1)|p.M2658I(1)|p.Q2659E(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGACCTGATGCAGTTGGCTCA	0.505																																																4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	Exception_encountered	17.37:g.65955704_65955705delinsAG	ENSP00000315454:p.M2784_Q2785delinsIE		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37																																																																																					0.505	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		AG	65955705	GC	AG	65955704	3	1	219	1	0	0	0	0	1	0	0	0	1497	1319	46	2	8454	2	BPTF	17	65955704	Missense_Mutation	DNP	GC	TCGA-B0-5701-01A-11D-1534-10	3664130	65955704	15239506	89	13253											
KPNA2	3838	broad.mit.edu;hgsc.bcm.edu	37	17	66042696	66042696	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:66042696G>T	ENST00000537025.2	+	11	2194	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	KPNA2_ENST00000582898.1_3'UTR|KPNA2_ENST00000330459.3_Missense_Mutation_p.G525V			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	525					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.G525V(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGGGCTCCTGGGACCTTTAAC	0.353																																																1	Substitution - Missense(1)	kidney(1)											73	75	74					17																	66042696		2203	4296	6499	SO:0001583	missense	3838			U09559	CCDS32713.1	17q24.2	2013-02-14						"Importins", "Armadillo repeat containing"	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1574G>T	17.37:g.66042696G>T	ENSP00000438483:p.Gly525Val		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018779	0.19355	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.28454	1.61;1.61	5.33	5.33	0.75918	.	0.300971	0.25019	U	0.033771	T	0.37625	0.1010	M	0.84511	2.7	0.52501	D	0.999958	B	0.14438	0.01	B	0.14023	0.01	T	0.41215	-0.9521	10	0.66056	D	0.02	.	8.6651	0.34116	0.0863:0.1546:0.7591:0.0	.	525	P52292	IMA2_HUMAN	V	525	ENSP00000332455:G525V;ENSP00000438483:G525V	ENSP00000332455:G525V	G	+	2	0	KPNA2	63473158	1.000000	0.71417	0.990000	0.47175	0.339000	0.28857	4.713000	0.61895	2.497000	0.84241	0.461000	0.40582	GGG		0.353	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		T	66042696	G	T	66042696	3	4	219	1	0	0	0	0	1	0	0	0	8432	1232	43	4	1612	4	KPNA2	17	66042696	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	86992	66042696	15152514	90	13254											
MC2R	4158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	13885108	13885108	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr18:13885108C>T	ENST00000327606.3	-	2	590	c.410G>A	c.(409-411)cGg>cAg	p.R137Q		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	137			R -> P (found in a glucocorticoid deficiency patient carrying also mutation I-74). {ECO:0000269|PubMed:20108423}.|R -> W (in GCCD1; partial loss of ACTIVITY). {ECO:0000269|PubMed:10971458, ECO:0000269|PubMed:12213892}.		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.R137Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GCTGTGGTACCGCAGTGCGTG	0.572																																					Colon(141;1584 1782 35999 48227 48692)											2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											116	87	96					18																	13885108		2203	4300	6503	SO:0001583	missense	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.410G>A	18.37:g.13885108C>T	ENSP00000333821:p.Arg137Gln		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069126	0.36470	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.40756	1.02	5.28	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.195180	0.45867	N	0.000323	T	0.27663	0.0680	L	0.31664	0.95	0.31073	N	0.712753	B	0.10296	0.003	B	0.16722	0.016	T	0.18650	-1.0330	10	0.27785	T	0.31	.	7.9583	0.30055	0.0:0.3005:0.0:0.6995	.	137	Q01718	ACTHR_HUMAN	Q	137	ENSP00000333821:R137Q	ENSP00000333821:R137Q	R	-	2	0	MC2R	13875108	1.000000	0.71417	0.976000	0.42696	0.828000	0.46876	0.967000	0.29344	0.317000	0.23160	-0.290000	0.09829	CGG		0.572	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			T	13885108	C	T	13885108	3	4	219	1	0	0	0	0	1	0	0	0	9366	652	23	1	487	1	MC2R	18	13885108	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10		13885108	64192140	91	13255											
DSC2	1824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	28648279	28648279	+	Intron	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr18:28648279T>G	ENST00000280904.6	-	16	2952				DSC2_ENST00000251081.6_Missense_Mutation_p.N847T	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2						bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N847T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CATTGTTTAATTTTTAATCAG	0.279																																																1	Substitution - Missense(1)	kidney(1)											68	66	67					18																	28648279		2203	4296	6499	SO:0001627	intron_variant	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2509-101A>C	18.37:g.28648279T>G				Missense_Mutation	SNP	ENST00000280904.6	37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502448	0.64298	.	.	ENSG00000134755	ENST00000251081	T	0.60040	0.22	5.87	5.87	0.94306	.	.	.	.	.	T	0.74650	0.3744	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.78001	-0.2375	8	0.87932	D	0	.	12.2201	0.54429	0.1275:0.0:0.0:0.8725	.	847	Q02487-2	.	T	847	ENSP00000251081:N847T	ENSP00000251081:N847T	N	-	2	0	DSC2	26902277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.252000	0.65445	2.371000	0.80710	0.533000	0.62120	AAT		0.279	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		G	28648279	T	G	28648279	1	3	219	0	1	0	0	0	0	0	0	0	4768	1493	52	5		5	DSC2	18	28648279	Intron	SNP	T	TCGA-B0-5701-01A-11D-1534-10	14763171	28648279	49428969	92	13256											
KIAA1012	22878	broad.mit.edu;ucsc.edu	37	18	29435680	29435680	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr18:29435680A>C	ENST00000283351.4	-	21	3614	c.3279T>G	c.(3277-3279)aaT>aaG	p.N1093K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.N1039K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1093					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.N1093K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCCTTCTTCATTTTCAAGAG	0.348																																																1	Substitution - Missense(1)	kidney(1)											98	97	97					18																	29435680		2203	4300	6503	SO:0001583	missense	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3279T>G	18.37:g.29435680A>C	ENSP00000283351:p.Asn1093Lys		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.582338	0.28180	.	.	ENSG00000153339	ENST00000283351	T	0.16324	2.35	5.51	1.35	0.21983	.	0.447690	0.27084	N	0.021020	T	0.06690	0.0171	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.36553	-0.9743	10	0.05620	T	0.96	.	5.6848	0.17797	0.717:0.0:0.1367:0.1463	.	1093	Q9Y2L5	TPPC8_HUMAN	K	1093	ENSP00000283351:N1093K	ENSP00000283351:N1093K	N	-	3	2	TRAPPC8	27689678	1.000000	0.71417	0.973000	0.42090	0.964000	0.63967	1.102000	0.31050	0.028000	0.15324	0.377000	0.23210	AAT		0.348	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		C	29435680	A	C	29435680	3	2	219	1	0	0	0	0	1	0	0	0	8206	214	8	5	1064	5	KIAA1012	18	29435680	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10	787401	29435680	48641568	93	13257											
KCNG2	26251	hgsc.bcm.edu	37	18	77659531	77659531	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr18:77659531C>T	ENST00000316249.3	+	2	1116	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	372					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCGTGGGCTACGGCGACATGG	0.697																																																0													42	40	41					18																	77659531		2203	4298	6501	SO:0001819	synonymous_variant	26251			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1116C>T	18.37:g.77659531C>T				Silent	SNP	ENST00000316249.3	37	CCDS12019.1																																																																																				0.697	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		T	77659531	C	T	77659531	2	4	219	1	0	0	0	0	0	0	0	1	8030	547	19	1		1	KCNG2	18	77659531	Silent	SNP	C	TCGA-B0-5701-01A-11D-1534-10	48223851	77659531	417717	94	13258											
TICAM1	148022	broad.mit.edu;hgsc.bcm.edu	37	19	4817479	4817479	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:4817479C>G	ENST00000248244.5	-	2	1140	c.911G>C	c.(910-912)tGc>tCc	p.C304S		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	304	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.C304S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCCTCGGTGCACTCCACTGG	0.612																																																1	Substitution - Missense(1)	kidney(1)											32	37	36					19																	4817479		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.911G>C	19.37:g.4817479C>G	ENSP00000248244:p.Cys304Ser		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.935980	0.52972	.	.	ENSG00000127666	ENST00000248244	T	0.56611	0.45	4.2	3.16	0.36331	.	0.000000	0.37761	U	0.001947	T	0.65439	0.2691	M	0.67953	2.075	0.09310	N	1	D	0.71674	0.998	D	0.75484	0.986	T	0.54708	-0.8253	10	0.33141	T	0.24	-12.2304	9.6256	0.39748	0.0:0.8997:0.0:0.1003	.	304	Q8IUC6	TCAM1_HUMAN	S	304	ENSP00000248244:C304S	ENSP00000248244:C304S	C	-	2	0	TICAM1	4768479	0.004000	0.15560	0.056000	0.19401	0.199000	0.23934	1.782000	0.38654	0.886000	0.36113	0.297000	0.19635	TGC		0.612	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		G	4817479	C	G	4817479	3	3	219	1	0	0	0	0	1	0	0	0	15897	710	25	4	1231	4	TICAM1	19	4817479	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10		4817479	54311504	95	13259											
DENND1C	79958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6467832	6467832	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:6467832C>T	ENST00000381480.2	-	23	2201	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	DENND1C_ENST00000543576.1_Missense_Mutation_p.E653K	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	697					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E723K(1)|p.E697K(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTGGGGTTTTCCTGGGCTGTA	0.577																																																2	Substitution - Missense(2)	kidney(2)											25	26	26					19																	6467832		1885	4110	5995	SO:0001583	missense	79958			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2089G>A	19.37:g.6467832C>T	ENSP00000370889:p.Glu697Lys		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716623	0.30413	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.09630	3.13;2.96	4.63	-0.739	0.11120	.	4.646510	0.00575	N	0.000301	T	0.07188	0.0182	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.32428	-0.9907	10	0.06236	T	0.91	-0.2041	7.692	0.28573	0.0:0.3947:0.5055:0.0998	.	697	Q8IV53	DEN1C_HUMAN	K	697;653	ENSP00000370889:E697K;ENSP00000437805:E653K	ENSP00000370889:E697K	E	-	1	0	DENND1C	6418832	0.000000	0.05858	0.001000	0.08648	0.182000	0.23217	-0.383000	0.07398	0.107000	0.17824	0.298000	0.19748	GAA		0.577	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		T	6467832	C	T	6467832	3	4	219	1	0	0	0	0	1	0	0	0	4430	864	30	2	320	2	DENND1C	19	6467832	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	1650353	6467832	52661151	96	13260											
GATAD2A	54815	broad.mit.edu	37	19	19609406	19609406	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:19609406T>C	ENST00000360315.3	+	8	1391	c.1079T>C	c.(1078-1080)cTa>cCa	p.L360P	GATAD2A_ENST00000429563.2_Missense_Mutation_p.L187P|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000358713.3_Missense_Mutation_p.L360P|GATAD2A_ENST00000404158.1_Missense_Mutation_p.L360P|GATAD2A_ENST00000252577.5_Missense_Mutation_p.L360P	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	360	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L360P(1)|p.L217P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GAGAAGACGCTACTCGAGATC	0.647																																																2	Substitution - Missense(2)	kidney(2)											38	40	39					19																	19609406		2203	4300	6503	SO:0001583	missense	54815			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1079T>C	19.37:g.19609406T>C	ENSP00000353463:p.Leu360Pro		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330335	0.81690	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.70869	-0.06;-0.18;-0.06;-0.52	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85499	0.1190	9	.	.	.	-22.7905	14.7528	0.69540	0.0:0.0:0.0:1.0	.	187;379;360	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	P	360;360;379;360;187	ENSP00000353463:L360P;ENSP00000252577:L360P;ENSP00000351552:L360P;ENSP00000388416:L187P	.	L	+	2	0	GATAD2A	19470406	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	8.018000	0.88722	2.173000	0.68751	0.529000	0.55759	CTA		0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		C	19609406	T	C	19609406	3	2	219	1	0	0	0	0	1	0	0	0	6262	1522	53	3	1105	3	GATAD2A	19	19609406	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	13141574	19609406	39519577	97	13261											
ZNF90	7643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	20229513	20229513	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:20229513C>G	ENST00000418063.2	+	4	1262	c.1150C>G	c.(1150-1152)Ctt>Gtt	p.L384V	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	384					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L384V(1)		breast(1)|lung(2)|ovary(1)|skin(1)	5						ATCCTCACTCCTTTATAAACA	0.383																																																1	Substitution - Missense(1)	kidney(1)											50	48	49					19																	20229513		692	1591	2283	SO:0001583	missense	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1150C>G	19.37:g.20229513C>G	ENSP00000410466:p.Leu384Val		B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146735	0.21288	.	.	ENSG00000213988	ENST00000418063	T	0.52983	0.64	1.18	-0.334	0.12666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42086	0.1187	M	0.79693	2.465	0.09310	N	1	P	0.47484	0.896	B	0.37239	0.244	T	0.39643	-0.9604	8	.	.	.	.	5.4887	0.16763	0.0:0.7579:0.0:0.2421	.	384	Q03938	ZNF90_HUMAN	V	384	ENSP00000410466:L384V	.	L	+	1	0	ZNF90	20090513	0.055000	0.20627	0.003000	0.11579	0.003000	0.03518	0.601000	0.24119	0.293000	0.22520	0.298000	0.19748	CTT		0.383	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		G	20229513	C	G	20229513	3	3	219	1	0	0	0	0	1	0	0	0	18204	681	24	4	1164	4	ZNF90	19	20229513	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	620107	20229513	38899470	98	13262											
MLL4	9757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36211567	36211567	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:36211567C>G	ENST00000222270.7	+	3	1318	c.1318C>G	c.(1318-1320)Cct>Gct	p.P440A	KMT2B_ENST00000341701.1_Missense_Mutation_p.P440A|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.P440A	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	440	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P440A(1)									gtccccaccacctctaccatc	0.677																																																1	Substitution - Missense(1)	kidney(1)											4	4	4					19																	36211567		1437	3184	4621	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1318C>G	19.37:g.36211567C>G	ENSP00000222270:p.Pro440Ala		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	3.554	-0.090977	0.07053	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.90324	-2.65;-2.65;-0.49	3.32	2.27	0.28462	.	.	.	.	.	T	0.75532	0.3862	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.17098	0.017	T	0.61187	-0.7113	9	0.06365	T	0.9	.	6.4293	0.21788	0.0:0.8596:0.0:0.1404	.	440	Q9UMN6	MLL4_HUMAN	A	440	ENSP00000222270:P440A;ENSP00000398837:P440A;ENSP00000345761:P440A	ENSP00000222270:P440A	P	+	1	0	AD000671.1	40903407	0.072000	0.21174	0.005000	0.12908	0.623000	0.37688	1.619000	0.36965	0.740000	0.32651	0.407000	0.27541	CCT		0.677	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		G	36211567	C	G	36211567	3	3	219	1	0	0	0	0	1	0	0	0	9625	507	18	4	1328	4	MLL4	19	36211567	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	15982054	36211567	22917416	99	13263											
CAPN12	147968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39233680	39233680	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:39233680C>T	ENST00000328867.4	-	2	608	c.300G>A	c.(298-300)ggG>ggA	p.G100G	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	100	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.G100G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CACCCAGGCTCCCCTGACACA	0.592																																																1	Substitution - coding silent(1)	kidney(1)											76	66	69					19																	39233680		2203	4300	6503	SO:0001819	synonymous_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.300G>A	19.37:g.39233680C>T				Silent	SNP	ENST00000328867.4	37	CCDS12519.1																																																																																				0.592	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			T	39233680	C	T	39233680	2	4	219	1	0	0	0	0	0	0	0	1	2627	842	30	2		2	CAPN12	19	39233680	Silent	SNP	C	TCGA-B0-5701-01A-11D-1534-10	3022113	39233680	19895303	100	13264											
ECH1	1891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39321980	39321980	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:39321980T>C	ENST00000221418.4	-	2	461	c.229A>G	c.(229-231)Aag>Gag	p.K77E	AC104534.3_ENST00000594769.1_Silent_p.T246T|ECH1_ENST00000597805.1_Intron	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	77					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)	p.K77E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCATTCCTCTTGTTGGGCCGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											107	105	106					19																	39321980		2203	4300	6503	SO:0001583	missense	1891			U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"enoyl Coenzyme A hydratase 1, peroxisomal"			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.229A>G	19.37:g.39321980T>C	ENSP00000221418:p.Lys77Glu		A8K745|Q8WVX0|Q96EZ9	Missense_Mutation	SNP	ENST00000221418.4	37	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.638935	0.87760	.	.	ENSG00000104823	ENST00000221418	T	0.68624	-0.34	5.73	5.73	0.89815	Crotonase, core (1);	0.000000	0.85682	D	0.000000	D	0.83390	0.5244	M	0.93016	3.37	0.80722	D	1	D;P	0.65815	0.995;0.895	P;P	0.57846	0.828;0.654	D	0.87733	0.2580	10	0.87932	D	0	.	15.0019	0.71479	0.0:0.0:0.0:1.0	.	77;77	B4DVS4;Q13011	.;ECH1_HUMAN	E	77	ENSP00000221418:K77E	ENSP00000221418:K77E	K	-	1	0	ECH1	44013820	1.000000	0.71417	0.986000	0.45419	0.378000	0.30076	5.945000	0.70226	2.190000	0.69967	0.533000	0.62120	AAG		0.607	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1			C	39321980	T	C	39321980	3	2	219	1	0	0	0	0	1	0	0	0	4894	1821	63	3	793	3	ECH1	19	39321980	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	88300	39321980	19807003	101	13265											
LTBP4	8425	hgsc.bcm.edu;ucsc.edu	37	19	41132926	41132926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:41132926delC	ENST00000308370.7	+	32	4230	c.4230delC	c.(4228-4230)agcfs	p.S1410fs	LTBP4_ENST00000545697.1_Frame_Shift_Del_p.S778fs|LTBP4_ENST00000396819.3_Frame_Shift_Del_p.S1343fs|LTBP4_ENST00000204005.9_Frame_Shift_Del_p.S1373fs|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1411	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGCATATAGCCCCCCGCGAC	0.627																																																0													32	36	35					19																	41132926		1973	4135	6108	SO:0001589	frameshift_variant	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4230delC	19.37:g.41132926delC	ENSP00000311905:p.Ser1410fs		O00508|O75412|O75413	Frame_Shift_Del	DEL	ENST00000308370.7	37																																																																																					0.627	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		-	41132926	C	-	41132926	7	5	219	1	0	1	0	1	0	0	0	0	9078	738	26	0	4647	0	LTBP4	19	41132926	Frame_Shift_Del	DEL	C	TCGA-B0-5701-01A-11D-1534-10	1810946	41132926	17996057	102	13266	100	2									
LTBP4	8425	hgsc.bcm.edu	37	19	41132932	41132932	+	Silent	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:41132932G>T	ENST00000308370.7	+	32	4236	c.4236G>T	c.(4234-4236)ccG>ccT	p.P1412P	LTBP4_ENST00000545697.1_Silent_p.P780P|LTBP4_ENST00000396819.3_Silent_p.P1345P|LTBP4_ENST00000204005.9_Silent_p.P1375P|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1413	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATAGCCCCCCGCGACCAGGTG	0.627																																																0													30	34	33					19																	41132932		1967	4134	6101	SO:0001819	synonymous_variant	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4236G>T	19.37:g.41132932G>T			O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37																																																																																					0.627	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		T	41132932	G	T	41132932	2	4	219	1	0	0	0	0	0	0	0	1	9078	1074	38	4		4	LTBP4	19	41132932	Silent	SNP	G	TCGA-B0-5701-01A-11D-1534-10	6	41132932	17996051	103	13267	100	2									
NLRP2	55655	broad.mit.edu;ucsc.edu	37	19	55485895	55485895	+	Missense_Mutation	SNP	G	G	T	rs527789643		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:55485895G>T	ENST00000543010.1	+	3	451	c.308G>T	c.(307-309)aGg>aTg	p.R103M	NLRP2_ENST00000263437.6_Missense_Mutation_p.R103M|NLRP2_ENST00000537859.1_Missense_Mutation_p.R103M|NLRP2_ENST00000538819.1_Missense_Mutation_p.R103M|NLRP2_ENST00000339757.7_Missense_Mutation_p.R103M|NLRP2_ENST00000391721.4_Missense_Mutation_p.R103M|NLRP2_ENST00000427260.2_Missense_Mutation_p.R80M|NLRP2_ENST00000448584.2_Missense_Mutation_p.R103M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	103					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.R103K(1)|p.R103M(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTTAATAAAAGGAAGCCTCTA	0.358																																																2	Substitution - Missense(2)	NS(1)|kidney(1)											97	99	98					19																	55485895		2202	4300	6502	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.308G>T	19.37:g.55485895G>T	ENSP00000445135:p.Arg103Met		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	0.404	-0.916853	0.02415	.	.	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437;ENST00000397169	T;T;T;T;T;T;T;T;T;T	0.74315	-0.27;-0.83;-0.77;-0.77;-0.83;-0.77;-0.8;-0.77;-0.83;-0.47	1.42	-2.63	0.06133	.	.	.	.	.	T	0.53610	0.1807	N	0.14661	0.345	0.09310	N	1	P;B;P;B;B	0.46220	0.802;0.028;0.874;0.028;0.028	B;B;P;B;B	0.44811	0.326;0.008;0.461;0.013;0.009	T	0.47749	-0.9093	9	0.45353	T	0.12	.	2.2886	0.04133	0.3446:0.0:0.3951:0.2603	.	80;103;103;103;103	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	103;103;103;103;103;103;80;103;103;35	ENSP00000443519:R103M;ENSP00000445135:R103M;ENSP00000375601:R103M;ENSP00000344074:R103M;ENSP00000409370:R103M;ENSP00000440601:R103M;ENSP00000402474:R80M;ENSP00000441133:R103M;ENSP00000263437:R103M;ENSP00000441363:R35M	ENSP00000263437:R103M	R	+	2	0	NLRP2	60177707	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.108000	0.10857	-0.977000	0.03537	-0.340000	0.08031	AGG		0.358	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		T	55485895	G	T	55485895	3	4	219	1	0	0	0	0	1	0	0	0	10479	1000	35	4	314	4	NLRP2	19	55485895	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10	14352963	55485895	3643088	104	13268											
ZNF606	80095	hgsc.bcm.edu;ucsc.edu	37	19	58490239	58490239	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:58490239delT	ENST00000341164.4	-	7	2429	c.1809delA	c.(1807-1809)aaafs	p.K603fs	ZNF606_ENST00000536132.1_Frame_Shift_Del_p.K513fs	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTCTGAATGCTTTGCCACATT	0.428																																																0													98	96	97					19																	58490239		2203	4300	6503	SO:0001589	frameshift_variant	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1809delA	19.37:g.58490239delT	ENSP00000343617:p.Lys603fs		A8KAN2|Q8NE04|Q96JH5	Frame_Shift_Del	DEL	ENST00000341164.4	37	CCDS12968.1																																																																																				0.428	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		-	58490239	T	-	58490239	7	5	219	1	0	1	0	1	0	0	0	0	18037	1606	56	0	573	0	ZNF606	19	58490239	Frame_Shift_Del	DEL	T	TCGA-B0-5701-01A-11D-1534-10	3004344	58490239	638744	105	13269											
ZNF584	201514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58928399	58928399	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:58928399T>G	ENST00000306910.4	+	4	1037	c.514T>G	c.(514-516)Ttt>Gtt	p.F172V	ZNF584_ENST00000593920.1_Missense_Mutation_p.F127V|ZNF584_ENST00000599238.1_3'UTR|ZNF584_ENST00000322834.7_3'UTR|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000596921.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F172V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		CTTAAAGGCCTTTGCCCTCCT	0.498																																																1	Substitution - Missense(1)	kidney(1)											110	88	96					19																	58928399		2203	4300	6503	SO:0001583	missense	201514			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"Zinc fingers, C2H2-type", "-"	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.514T>G	19.37:g.58928399T>G	ENSP00000306756:p.Phe172Val		A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809060	0.31961	.	.	ENSG00000171574	ENST00000306910;ENST00000354635	T	0.50277	0.75	4.2	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42810	0.1219	N	0.10664	0.02	0.09310	N	1	D	0.63046	0.992	D	0.65233	0.933	T	0.17107	-1.0380	9	0.66056	D	0.02	.	7.0332	0.24979	0.3343:0.0:0.0:0.6657	.	172	Q8IVC4	ZN584_HUMAN	V	172;31	ENSP00000306756:F172V	ENSP00000306756:F172V	F	+	1	0	ZNF584	63620211	0.002000	0.14202	0.304000	0.25085	0.145000	0.21501	0.707000	0.25704	1.778000	0.52293	0.459000	0.35465	TTT		0.498	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		G	58928399	T	G	58928399	3	3	219	1	0	0	0	0	1	0	0	0	18021	1609	56	5	528	5	ZNF584	19	58928399	Missense_Mutation	SNP	T	TCGA-B0-5701-01A-11D-1534-10	438160	58928399	200584	106	13270											
DEFB116	245930	broad.mit.edu;ucsc.edu	37	20	29891177	29891177	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr20:29891177G>T	ENST00000400549.1	-	2	146	c.147C>A	c.(145-147)aaC>aaA	p.N49K		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	49					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.N49K(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTCTGCAGGCGTTTCTGCACA	0.453																																																1	Substitution - Missense(1)	kidney(1)											278	246	256					20																	29891177		1877	4099	5976	SO:0001583	missense	245930			DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"Defensins, beta"	18097	protein-coding gene	gene with protein product	"defensin, beta 16"					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.147C>A	20.37:g.29891177G>T	ENSP00000383396:p.Asn49Lys			Missense_Mutation	SNP	ENST00000400549.1	37	CCDS42860.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289963	0.40494	.	.	ENSG00000215545	ENST00000400549	T	0.08102	3.13	3.43	-1.21	0.09524	.	.	.	.	.	T	0.12518	0.0304	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.66716	0.946	T	0.26608	-1.0098	9	0.34782	T	0.22	-8.8653	6.5773	0.22573	0.5642:0.0:0.4358:0.0	.	49	Q30KQ4	DB116_HUMAN	K	49	ENSP00000383396:N49K	ENSP00000383396:N49K	N	-	3	2	DEFB116	29354838	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	-0.574000	0.05868	-0.201000	0.10284	0.655000	0.94253	AAC		0.453	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731		T	29891177	G	T	29891177	3	4	219	1	0	0	0	0	1	0	0	0	4407	1136	40	4	164	4	DEFB116	20	29891177	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10		29891177	33134343	107	13271											
ASXL1	171023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31015950	31015950	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr20:31015950C>G	ENST00000375687.4	+	5	696	c.272C>G	c.(271-273)tCt>tGt	p.S91C	ASXL1_ENST00000306058.5_Missense_Mutation_p.S86C|ASXL1_ENST00000542461.1_3'UTR|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	91					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S91C(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCAGTGGTCTCGCCATCCA	0.502			"F, N, Mis"		"MDS, CMML"																																		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Missense(1)	kidney(1)											102	96	98					20																	31015950		2203	4300	6503	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.272C>G	20.37:g.31015950C>G	ENSP00000364839:p.Ser91Cys		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004291	0.54254	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.16196	2.37;2.36	5.12	5.12	0.69794	.	0.185123	0.48286	D	0.000183	T	0.38401	0.1039	L	0.51422	1.61	0.48975	D	0.999735	D;D	0.89917	0.999;1.0	D;D	0.80764	0.992;0.994	T	0.06661	-1.0814	10	0.62326	D	0.03	-14.1038	18.7483	0.91802	0.0:1.0:0.0:0.0	.	86;91	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	C	91;91;91;81;86	ENSP00000364839:S91C;ENSP00000305119:S86C	ENSP00000305119:S86C	S	+	2	0	ASXL1	30479611	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	5.287000	0.65645	2.665000	0.90641	0.462000	0.41574	TCT		0.502	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		G	31015950	C	G	31015950	3	3	219	1	0	0	0	0	1	0	0	0	1066	913	32	4	296	4	ASXL1	20	31015950	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	1124773	31015950	32009570	108	13272											
E2F1	1869	hgsc.bcm.edu	37	20	32267679	32267681	+	In_Frame_Del	DEL	CGA	CGA	-	rs373698861		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	CGA	CGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr20:32267679_32267681delCGA	ENST00000343380.5	-	3	591_593	c.452_454delTCG	c.(451-456)gtcgac>gac	p.V151del		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	151	Interaction with BIRC2/c-IAP1.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|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 (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CAGTTCAGGTCGACGACACCGTC	0.581																																																0																																										SO:0001651	inframe_deletion	1869				CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.452_454delTCG	20.37:g.32267682_32267684delCGA	ENSP00000345571:p.Val151del		Q13143|Q92768	In_Frame_Del	DEL	ENST00000343380.5	37	CCDS13224.1																																																																																				0.581	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			-	32267681	CGA	-	32267679	7	5	219	1	0	1	0	1	0	0	0	0	4868	884	31	0	879	0	E2F1	20	32267679	In_Frame_Del	DEL	CGA	TCGA-B0-5701-01A-11D-1534-10	1251729	32267679	30757841	109	13273											
MRPS6	64968	hgsc.bcm.edu;ucsc.edu	37	21	35514723	35514723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr21:35514723delT	ENST00000399312.2	+	3	379	c.201delT	c.(199-201)gatfs	p.D67fs	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	67					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TCTTGGTGGATTTTTATGCAC	0.388																																																0													101	96	98					21																	35514723		2203	4300	6503	SO:0001589	frameshift_variant	64968			AB051347	CCDS33548.1	21q22.11	2012-09-13	2002-06-20		ENSG00000243927	ENSG00000243927		"Mitochondrial ribosomal proteins / small subunits"	14051	protein-coding gene	gene with protein product		611973	"chromosome 21 open reading frame 101"	C21orf101			Standard	NM_032476		Approved	MRP-S6, RPMS6	uc002ytp.2	P82932	OTTHUMG00000065820	ENST00000399312.2:c.201delT	21.37:g.35514723delT	ENSP00000382250:p.Asp67fs		B2R573|Q96Q64|Q9BSK8|Q9BW89	Frame_Shift_Del	DEL	ENST00000399312.2	37	CCDS33548.1																																																																																				0.388	MRPS6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141033.1	NM_032476		-	35514723	T	-	35514723	7	5	219	1	0	1	0	1	0	0	0	0	9849	1490	52	0	211	0	MRPS6	21	35514723	Frame_Shift_Del	DEL	T	TCGA-B0-5701-01A-11D-1534-10		35514723	12615172	110	13274											
COL6A2	1292	broad.mit.edu;hgsc.bcm.edu	37	21	47545941	47545941	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr21:47545941C>T	ENST00000300527.4	+	26	2316	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	COL6A2_ENST00000310645.5_Missense_Mutation_p.R738W|COL6A2_ENST00000397763.1_Missense_Mutation_p.R738W|COL6A2_ENST00000357838.4_Missense_Mutation_p.R738W|COL6A2_ENST00000409416.1_Missense_Mutation_p.R738W	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	738	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.R738W(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCACGACCCTCGGGACGATGA	0.622																																																3	Substitution - Missense(3)	kidney(3)											83	81	81					21																	47545941		2203	4300	6503	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2212C>T	21.37:g.47545941C>T	ENSP00000300527:p.Arg738Trp		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417810	0.42918	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	4.05	4.05	0.47172	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90778	0.4677	10	0.72032	D	0.01	-13.324	16.2114	0.82164	0.0:1.0:0.0:0.0	.	738;738;738	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	W	738	ENSP00000300527:R738W;ENSP00000350497:R738W;ENSP00000312529:R738W;ENSP00000387115:R738W;ENSP00000380870:R738W	ENSP00000300527:R738W	R	+	1	2	COL6A2	46370369	0.998000	0.40836	0.100000	0.21137	0.479000	0.33129	3.914000	0.56401	1.808000	0.52836	0.491000	0.48974	CGG		0.622	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47545941	C	T	47545941	3	4	219	1	0	0	0	0	1	0	0	0	3702	875	31	1	2310	1	COL6A2	21	47545941	Missense_Mutation	SNP	C	TCGA-B0-5701-01A-11D-1534-10	12031218	47545941	583954	111	13275											
HPS4	89781	broad.mit.edu;hgsc.bcm.edu	37	22	26859937	26859937	+	Silent	SNP	C	C	G	rs540157835		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr22:26859937C>G	ENST00000398145.2	-	11	2275	c.1659G>C	c.(1657-1659)ctG>ctC	p.L553L	HPS4_ENST00000402105.3_Silent_p.L548L|HPS4_ENST00000336873.5_Silent_p.L553L|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000398141.1_Silent_p.L566L	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	553					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.L553L(1)|p.L566L(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CCAGCAGGGACAGCACCAGCC	0.612									Hermansky-Pudlak syndrome																																							2	Substitution - coding silent(2)	kidney(2)											58	52	54					22																	26859937		2203	4300	6503	SO:0001819	synonymous_variant	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1659G>C	22.37:g.26859937C>G			B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	CCDS13835.1																																																																																				0.612	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		G	26859937	C	G	26859937	2	3	219	1	0	0	0	0	0	0	0	1	7343	465	17	4		4	HPS4	22	26859937	Silent	SNP	C	TCGA-B0-5701-01A-11D-1534-10		26859937	24444629	112	13276											
NCAPH2	29781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50956419	50956419	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr22:50956419C>T	ENST00000420993.2	+	6	560	c.438C>T	c.(436-438)ccC>ccT	p.P146P	NCAPH2_ENST00000395698.3_Silent_p.P146P|NCAPH2_ENST00000395701.3_Silent_p.P146P|NCAPH2_ENST00000299821.11_Silent_p.P146P	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	146					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.P146P(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TCATCATCCCCCTCCTGCCCA	0.617																																																2	Substitution - coding silent(2)	kidney(2)											69	66	67					22																	50956419		2203	4300	6503	SO:0001819	synonymous_variant	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.438C>T	22.37:g.50956419C>T			B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Silent	SNP	ENST00000420993.2	37	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441502	0.43326	.	.	ENSG00000025770	ENST00000496227	.	.	.	5.14	-2.88	0.05682	.	0.058631	0.64402	D	0.000002	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44236	-0.9341	6	0.72032	D	0.01	-14.9777	0.5	0.00578	0.2552:0.2746:0.1256:0.3445	.	.	.	.	S	87	.	ENSP00000355052:P146S	P	+	1	0	NCAPH2	49303285	0.008000	0.16893	0.887000	0.34795	0.732000	0.41865	-1.029000	0.03585	-0.472000	0.06881	0.462000	0.41574	CCT		0.617	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		T	50956419	C	T	50956419	2	4	219	1	0	0	0	0	0	0	0	1	10212	610	22	2		2	NCAPH2	22	50956419	Silent	SNP	C	TCGA-B0-5701-01A-11D-1534-10	24096482	50956419	348147	113	13277											
DOCK11	139818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	117752678	117752678	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chrX:117752678G>T	ENST00000276202.7	+	31	3521	c.3458G>T	c.(3457-3459)aGa>aTa	p.R1153I	DOCK11_ENST00000276204.6_Missense_Mutation_p.R1153I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1153					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1153I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTTGACACAAGATACCAGCAC	0.358																																																1	Substitution - Missense(1)	kidney(1)											62	55	57					X																	117752678		2203	4299	6502	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3458G>T	X.37:g.117752678G>T	ENSP00000276202:p.Arg1153Ile		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671054	0.88348	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	D;D	0.96365	-3.99;-3.99	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.98695	0.9562	H	0.94306	3.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.969;0.973	D	0.99414	1.0931	10	0.66056	D	0.02	9.0E-4	18.9958	0.92812	0.0:0.0:1.0:0.0	.	1153;1153	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	1153	ENSP00000276204:R1153I;ENSP00000276202:R1153I	ENSP00000276202:R1153I	R	+	2	0	DOCK11	117636706	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.606000	0.90888	2.521000	0.84997	0.544000	0.68410	AGA		0.358	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		T	117752678	G	T	117752678	3	4	219	1	0	0	0	0	1	0	0	0	4688	942	33	4	3580	4	DOCK11	23	117752678	Missense_Mutation	SNP	G	TCGA-B0-5701-01A-11D-1534-10		117752678	37517882	114	13278											
BCORL1	63035	broad.mit.edu	37	X	129147823	129147823	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chrX:129147823A>C	ENST00000218147.7	+	4	1272	c.1075A>C	c.(1075-1077)Act>Cct	p.T359P	BCORL1_ENST00000540052.1_Missense_Mutation_p.T359P|BCORL1_ENST00000359304.2_Missense_Mutation_p.T359P|BCORL1_ENST00000303743.5_Missense_Mutation_p.T359P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	359	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T359P(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						gcccatgcccactccaacccc	0.672																																																1	Substitution - Missense(1)	kidney(1)											28	26	27					X																	129147823		2060	4065	6125	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1075A>C	X.37:g.129147823A>C	ENSP00000218147:p.Thr359Pro		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	4.751	0.139594	0.09083	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.46819	0.87;1.24;0.86;0.87	4.34	3.17	0.36434	.	0.000000	0.34484	N	0.003931	T	0.23649	0.0572	N	0.08118	0	0.19300	N	0.999975	B;B	0.25441	0.126;0.077	B;B	0.31751	0.135;0.078	T	0.15435	-1.0437	9	.	.	.	-6.8384	3.9652	0.09428	0.5249:0.2647:0.2105:0.0	.	359;359	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	P	359	ENSP00000218147:T359P;ENSP00000307541:T359P;ENSP00000352253:T359P;ENSP00000437775:T359P	.	T	+	1	0	BCORL1	128975504	0.080000	0.21391	0.420000	0.26596	0.232000	0.25224	0.715000	0.25822	0.635000	0.30488	0.425000	0.28330	ACT		0.672	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		C	129147823	A	C	129147823	3	2	219	1	0	0	0	0	1	0	0	0	1387	159	6	5	1085	5	BCORL1	23	129147823	Missense_Mutation	SNP	A	TCGA-B0-5701-01A-11D-1534-10	11395145	129147823	26122737	115	13279											
PLA2G2F	64600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20466689	20466689	+	Silent	SNP	C	C	T	rs373042211		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:20466689C>T	ENST00000375102.3	+	2	249	c.147C>T	c.(145-147)acC>acT	p.T49T		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	6					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.T49T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AGTTCTTCACCGTGGCCATCC	0.592																																																1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	156	137	144		147	1.7	0	1		144	0,8600		0,0,4300	no	coding-synonymous	PLA2G2F	NM_022819.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		49/212	20466689	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64600			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.147C>T	1.37:g.20466689C>T			Q5R385|Q8N217|Q9H506	Silent	SNP	ENST00000375102.3	37	CCDS204.2																																																																																				0.592	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819		T	20466689	C	T	20466689	2	4	220	1	0	0	0	0	0	0	0	1	12001	639	23	1		1	PLA2G2F	1	20466689	Silent	SNP	C	TCGA-B0-5702-01A-11D-1534-10		20466689	228783932	1	13280											
HSPG2	3339	hgsc.bcm.edu	37	1	22199879	22199880	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:22199879_22199880insG	ENST00000374695.3	-	30	3860_3861	c.3781_3782insC	c.(3781-3783)cagfs	p.Q1261fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1261	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTGGCATGGCTGGCCCTGGCTG	0.584																																																0																																										SO:0001589	frameshift_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3782dupC	1.37:g.22199881_22199881dupG	ENSP00000363827:p.Gln1261fs		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Ins	INS	ENST00000374695.3	37	CCDS30625.1																																																																																				0.584	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		G	22199880	-	G	22199879	7	5	220	1	0	1	1	0	0	0	0	0	7432	1580	55	0	9665	0	HSPG2	1	22199879	Frame_Shift_Ins	INS	-	TCGA-B0-5702-01A-11D-1534-10	1733190	22199879	227050742	2	13281											
SCMH1	22955	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	41608634	41608634	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:41608634C>T	ENST00000326197.7	-	5	597	c.298G>A	c.(298-300)Gac>Aac	p.D100N	SCMH1_ENST00000397171.2_Missense_Mutation_p.D39N|SCMH1_ENST00000361191.5_Missense_Mutation_p.D39N|SCMH1_ENST00000397174.2_Missense_Mutation_p.D80N|SCMH1_ENST00000337495.5_Missense_Mutation_p.D110N|SCMH1_ENST00000372597.1_Missense_Mutation_p.D53N|SCMH1_ENST00000372595.1_Missense_Mutation_p.D39N|SCMH1_ENST00000402904.2_Missense_Mutation_p.D100N|SCMH1_ENST00000361705.3_Missense_Mutation_p.D53N|SCMH1_ENST00000372596.1_Missense_Mutation_p.D39N|SCMH1_ENST00000456518.2_Missense_Mutation_p.D53N					sex comb on midleg homolog 1 (Drosophila)									p.D100N(1)|p.D110N(1)|p.D53N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CGCCAGAAGTCATTTTTGTTG	0.532																																																3	Substitution - Missense(3)	kidney(3)											127	130	129					1																	41608634		2203	4300	6503	SO:0001583	missense	22955			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.298G>A	1.37:g.41608634C>T	ENSP00000318094:p.Asp100Asn			Missense_Mutation	SNP	ENST00000326197.7	37	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	C	35	5.570499	0.96540	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81772	0.4893	M	0.90705	3.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.995	D	0.84066	0.0377	10	0.72032	D	0.01	.	19.2231	0.93806	0.0:1.0:0.0:0.0	.	53;110;53;100	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	N	53;53;100;80;39;39;53;39;110;39;100	ENSP00000354996:D53N;ENSP00000403974:D53N;ENSP00000386079:D100N;ENSP00000380359:D80N;ENSP00000380356:D39N;ENSP00000354656:D39N;ENSP00000361678:D53N;ENSP00000361677:D39N;ENSP00000337352:D110N;ENSP00000361676:D39N;ENSP00000318094:D100N	ENSP00000318094:D100N	D	-	1	0	SCMH1	41381221	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GAC		0.532	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			T	41608634	C	T	41608634	3	4	220	1	0	0	0	0	1	0	0	0	13914	826	29	2	1728	2	SCMH1	1	41608634	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	19408755	41608634	207641987	3	13282											
COL24A1	255631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	86362087	86362087	+	Silent	SNP	T	T	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:86362087T>G	ENST00000370571.2	-	29	3150	c.2784A>C	c.(2782-2784)tcA>tcC	p.S928S	COL24A1_ENST00000436319.1_Silent_p.S928S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	928	Collagen-like 7.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.S928S(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGGTCCTCTTGATCCCTAGA	0.328																																																1	Substitution - coding silent(1)	kidney(1)											109	102	104					1																	86362087		1827	4081	5908	SO:0001819	synonymous_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2784A>C	1.37:g.86362087T>G			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	CCDS41353.1																																																																																				0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		G	86362087	T	G	86362087	2	3	220	1	0	0	0	0	0	0	0	1	3685	1799	63	5		5	COL24A1	1	86362087	Silent	SNP	T	TCGA-B0-5702-01A-11D-1534-10	44753453	86362087	162888534	4	13283											
BRDT	676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	92470105	92470105	+	Silent	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:92470105G>A	ENST00000362005.3	+	18	2941	c.2523G>A	c.(2521-2523)cgG>cgA	p.R841R	BRDT_ENST00000370389.2_Silent_p.R768R|BRDT_ENST00000394530.3_Silent_p.R795R|BRDT_ENST00000402388.1_Silent_p.R841R|BRDT_ENST00000399546.2_Silent_p.R841R	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	841					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.R841R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TAAAAGCTCGGACACAGGAAC	0.388																																																2	Substitution - coding silent(2)	kidney(1)|skin(1)											84	92	89					1																	92470105		2202	4299	6501	SO:0001819	synonymous_variant	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2523G>A	1.37:g.92470105G>A			A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	CCDS735.1																																																																																				0.388	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		A	92470105	G	A	92470105	2	1	220	1	0	0	0	0	0	0	0	1	1510	1161	41	2		2	BRDT	1	92470105	Silent	SNP	G	TCGA-B0-5702-01A-11D-1534-10	6108018	92470105	156780516	5	13284											
DDX20	11218	hgsc.bcm.edu	37	1	112305403	112305403	+	Splice_Site	SNP	T	T	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:112305403T>A	ENST00000369702.4	+	9	1829	c.1209T>A	c.(1207-1209)ttT>ttA	p.F403L	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	403	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCCGTTTTGGTAAAAAAA	0.388																																																0													88	95	92					1																	112305403		2203	4300	6503	SO:0001630	splice_region_variant	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1210+1T>A	1.37:g.112305403T>A			B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.685759	0.88639	.	.	ENSG00000064703	ENST00000369702	T	0.74842	-0.88	5.64	4.53	0.55603	Helicase, C-terminal (3);	0.099543	0.64402	D	0.000001	T	0.77698	0.4169	L	0.60957	1.885	0.80722	D	1	D	0.62365	0.991	D	0.70487	0.969	T	0.80730	-0.1252	10	0.87932	D	0	-33.1899	10.763	0.46277	0.0:0.0747:0.0:0.9253	.	403	Q9UHI6	DDX20_HUMAN	L	403	ENSP00000358716:F403L	ENSP00000358716:F403L	F	+	3	2	DDX20	112106926	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.107000	0.41844	2.145000	0.66743	0.533000	0.62120	TTT		0.388	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204	Missense_Mutation	A	112305403	T	A	112305403	5	1	220	1	0	0	0	0	0	0	1	0	4350	1826	63	5	1243	5	DDX20	1	112305403	Splice_Site	SNP	T	TCGA-B0-5702-01A-11D-1534-10	19835298	112305403	136945218	6	13285											
FLG2	388698	broad.mit.edu;hgsc.bcm.edu	37	1	152324078	152324078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:152324078C>A	ENST00000388718.5	-	3	6256	c.6184G>T	c.(6184-6186)Gga>Tga	p.G2062*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2062					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2062*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGAGGATCCTGACTCTCCA	0.532																																																1	Substitution - Nonsense(1)	kidney(1)											533	474	494					1																	152324078		2203	4300	6503	SO:0001587	stop_gained	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6184G>T	1.37:g.152324078C>A	ENSP00000373370:p.Gly2062*		Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	44	10.902673	0.99486	.	.	ENSG00000143520	ENST00000388718	.	.	.	4.69	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	7.4312	0.27128	0.0:0.8032:0.0:0.1968	.	.	.	.	X	2062	.	ENSP00000373370:G2062X	G	-	1	0	FLG2	150590702	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.140000	0.10342	0.733000	0.32492	-0.149000	0.13747	GGA		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152324078	C	A	152324078	4	1	220	1	0	0	0	0	0	1	0	0	5925	690	24	4	995	4	FLG2	1	152324078	Nonsense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	40018675	152324078	96926543	7	13286											
FLG2	388698	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152326741	152326741	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:152326741C>T	ENST00000388718.5	-	3	3593	c.3521G>A	c.(3520-3522)gGt>gAt	p.G1174D	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1174	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1174D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTTGGACCTGAGCCAGA	0.483																																																1	Substitution - Missense(1)	kidney(1)											120	112	114					1																	152326741		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3521G>A	1.37:g.152326741C>T	ENSP00000373370:p.Gly1174Asp		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.793	0.931145	0.18131	.	.	ENSG00000143520	ENST00000388718	T	0.52983	0.64	3.88	2.96	0.34315	.	.	.	.	.	T	0.19005	0.0456	L	0.57536	1.79	0.09310	N	1	B	0.20368	0.044	B	0.17722	0.019	T	0.25882	-1.0119	9	0.15952	T	0.53	.	7.6892	0.28559	0.0:0.877:0.0:0.123	.	1174	Q5D862	FILA2_HUMAN	D	1174	ENSP00000373370:G1174D	ENSP00000373370:G1174D	G	-	2	0	FLG2	150593365	0.016000	0.18221	0.006000	0.13384	0.011000	0.07611	2.054000	0.41335	0.629000	0.30376	-0.683000	0.03753	GGT		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		T	152326741	C	T	152326741	3	4	220	1	0	0	0	0	1	0	0	0	5925	507	18	2	3658	2	FLG2	1	152326741	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	2663	152326741	96923880	8	13287											
PRCC	5546	broad.mit.edu;ucsc.edu	37	1	156764508	156764508	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:156764508G>T	ENST00000271526.4	+	5	1503	c.1231G>T	c.(1231-1233)Gtg>Ttg	p.V411L	PRCC_ENST00000353233.3_Missense_Mutation_p.V379L	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	411					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V411L(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AATCAACTTTGTGGAGATCAA	0.473			T	TFE3	papillary renal																																		Dom	yes		1	1q21.1	5546	papillary renal cell carcinoma (translocation-associated)		E	1	Substitution - Missense(1)	kidney(1)											88	87	87					1																	156764508		2203	4300	6503	SO:0001583	missense	5546			X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1231G>T	1.37:g.156764508G>T	ENSP00000271526:p.Val411Leu		A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	CCDS1157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.73|12.73	2.026363|2.026363	0.35701|0.35701	.|.	.|.	ENSG00000143294|ENSG00000143294	ENST00000454659|ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	.|T;T;T	.|0.47177	.|0.85;0.85;0.85	4.83|4.83	3.91|3.91	0.45181|0.45181	.|.	.|0.072620	.|0.56097	.|D	.|0.000033	T|T	0.11537|0.11537	0.0281|0.0281	N|N	0.03608|0.03608	-0.345|-0.345	0.46241|0.46241	D|D	0.998948|0.998948	.|B;B	.|0.17038	.|0.02;0.013	.|B;B	.|0.14023	.|0.01;0.007	T|T	0.05022|0.05022	-1.0911|-1.0911	5|10	.|0.27785	.|T	.|0.31	-7.0457|-7.0457	13.2846|13.2846	0.60235|0.60235	0.0:0.0:0.8403:0.1597|0.0:0.0:0.8403:0.1597	.|.	.|379;411	.|A6NG79;Q92733	.|.;PRCC_HUMAN	F|L	176|411;379;387;118	.|ENSP00000271526:V411L;ENSP00000339300:V379L;ENSP00000434762:V118L	.|ENSP00000271526:V411L	L|V	+|+	3|1	2|0	PRCC|PRCC	155031132|155031132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.276000|5.276000	0.65580|0.65580	1.241000|1.241000	0.43820|0.43820	0.655000|0.655000	0.94253|0.94253	TTG|GTG		0.473	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		T	156764508	G	T	156764508	3	4	220	1	0	0	0	0	1	0	0	0	12452	1377	48	4	1249	4	PRCC	1	156764508	Missense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10	4437767	156764508	92486113	9	13288											
LAMC2	3918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183196680	183196680	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:183196680A>T	ENST00000264144.4	+	10	1381	c.1316A>T	c.(1315-1317)gAc>gTc	p.D439V	LAMC2_ENST00000493293.1_Missense_Mutation_p.D439V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	439	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.D439V(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GAGAATCCTGACATTGAGTGT	0.527																																																1	Substitution - Missense(1)	kidney(1)											176	176	176					1																	183196680		2203	4300	6503	SO:0001583	missense	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1316A>T	1.37:g.183196680A>T	ENSP00000264144:p.Asp439Val		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542207	0.45280	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.17854	2.4;2.25	5.57	4.45	0.53987	.	0.231691	0.37809	N	0.001933	T	0.13586	0.0329	N	0.14661	0.345	0.50171	D	0.999855	P;P;D	0.53885	0.938;0.901;0.963	B;B;P	0.48270	0.368;0.369;0.572	T	0.04041	-1.0982	10	0.87932	D	0	.	8.881	0.35374	0.8373:0.0:0.1627:0.0	.	439;439;439	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	V	439	ENSP00000432063:D439V;ENSP00000264144:D439V	ENSP00000264144:D439V	D	+	2	0	LAMC2	181463303	0.987000	0.35691	0.993000	0.49108	0.912000	0.54170	2.181000	0.42547	0.958000	0.37956	0.523000	0.50628	GAC		0.527	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		T	183196680	A	T	183196680	3	4	220	1	0	0	0	0	1	0	0	0	8617	275	10	5	1354	5	LAMC2	1	183196680	Missense_Mutation	SNP	A	TCGA-B0-5702-01A-11D-1534-10	26432172	183196680	66053941	10	13289											
PARP1	142	broad.mit.edu;ucsc.edu	37	1	226561930	226561930	+	Silent	SNP	A	A	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:226561930A>G	ENST00000366794.5	-	14	2210	c.2067T>C	c.(2065-2067)taT>taC	p.Y689Y		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	689	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Y689Y(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CAATAACCTCATACTCCACCA	0.433								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								1	Substitution - coding silent(1)	kidney(1)											181	163	169					1																	226561930		2203	4300	6503	SO:0001819	synonymous_variant	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2067T>C	1.37:g.226561930A>G			B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	CCDS1554.1																																																																																				0.433	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		G	226561930	A	G	226561930	2	3	220	1	0	0	0	0	0	0	0	1	11456	224	8	3		3	PARP1	1	226561930	Silent	SNP	A	TCGA-B0-5702-01A-11D-1534-10	43365250	226561930	22688691	11	13290											
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237886484	237886484	+	Missense_Mutation	SNP	G	G	T	rs183911939		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:237886484G>T	ENST00000366574.2	+	74	10928	c.10611G>T	c.(10609-10611)agG>agT	p.R3537S	RYR2_ENST00000542537.1_Missense_Mutation_p.R3521S|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3535S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3537					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R3535S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACCAAACAGGACTGATGATA	0.398																																																1	Substitution - Missense(1)	kidney(1)											185	174	177					1																	237886484		1871	4101	5972	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10611G>T	1.37:g.237886484G>T	ENSP00000355533:p.Arg3537Ser		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258660	0.39896	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96587	-4.06;-4.03;-4.05	5.9	0.265	0.15612	.	0.092070	0.42053	D	0.000765	D	0.92143	0.7509	L	0.39633	1.23	0.54753	D	0.999985	B	0.24368	0.102	B	0.20577	0.03	D	0.85585	0.1242	10	0.45353	T	0.12	-19.2	11.024	0.47734	0.4765:0.0:0.5235:0.0	.	3537	Q92736	RYR2_HUMAN	S	3537;3535;3521;492	ENSP00000355533:R3537S;ENSP00000353174:R3535S;ENSP00000443798:R3521S	ENSP00000353174:R3535S	R	+	3	2	RYR2	235953107	0.016000	0.18221	0.833000	0.33012	0.981000	0.71138	0.147000	0.16202	0.129000	0.18514	0.455000	0.32223	AGG		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237886484	G	T	237886484	3	4	220	1	0	0	0	0	1	0	0	0	13775	1165	41	4	10905	4	RYR2	1	237886484	Missense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10	11324554	237886484	11364137	12	13291											
FBXO11	80204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48050392	48050392	+	Silent	SNP	A	A	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr2:48050392A>T	ENST00000403359.3	-	12	1578	c.1506T>A	c.(1504-1506)acT>acA	p.T502T	FBXO11_ENST00000316377.4_Silent_p.T418T|FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000402508.1_Silent_p.T418T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	502					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.T418T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATATTCCTCCAGTCTGCCCAT	0.383			"Mis, F, D"		DLBCL																																		Rec	yes		2	2p16.3	80204	F-box protein 11		L	3	Whole gene deletion(2)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(1)											129	120	123					2																	48050392		2203	4300	6503	SO:0001819	synonymous_variant	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1506T>A	2.37:g.48050392A>T			A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Silent	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.246808	0.22796	.	.	ENSG00000138081	ENST00000493962	.	.	.	5.66	1.7	0.24286	.	.	.	.	.	T	0.43344	0.1243	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	-0.0077	1.9913	0.03447	0.5905:0.1375:0.1404:0.1316	.	.	.	.	R	294	.	.	W	-	1	0	FBXO11	47903896	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.440000	0.21592	0.400000	0.25396	0.528000	0.53228	TGG		0.383	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		T	48050392	A	T	48050392	2	4	220	1	0	0	0	0	0	0	0	1	5729	175	7	5		5	FBXO11	2	48050392	Silent	SNP	A	TCGA-B0-5702-01A-11D-1534-10		48050392	195148981	13	13292											
GALNT5	11227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158165091	158165091	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr2:158165091A>C	ENST00000259056.4	+	9	3018	c.2533A>C	c.(2533-2535)Aat>Cat	p.N845H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	845	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.N845H(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCAACAATTTAATTACACCTG	0.418																																																1	Substitution - Missense(1)	kidney(1)											195	219	211					2																	158165091		2203	4300	6503	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2533A>C	2.37:g.158165091A>C	ENSP00000259056:p.Asn845His		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378280	0.82682	.	.	ENSG00000136542	ENST00000259056	T	0.27256	1.68	5.81	5.81	0.92471	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.64402	D	0.000001	T	0.47284	0.1437	L	0.53249	1.67	0.45621	D	0.998559	D	0.89917	1.0	D	0.75484	0.986	T	0.41197	-0.9522	10	0.59425	D	0.04	.	15.8251	0.78698	1.0:0.0:0.0:0.0	.	845	Q7Z7M9	GALT5_HUMAN	H	845	ENSP00000259056:N845H	ENSP00000259056:N845H	N	+	1	0	GALNT5	157873337	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.545000	0.82128	2.216000	0.71823	0.533000	0.62120	AAT		0.418	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		C	158165091	A	C	158165091	3	2	220	1	0	0	0	0	1	0	0	0	6218	362	13	5	2567	5	GALNT5	2	158165091	Missense_Mutation	SNP	A	TCGA-B0-5702-01A-11D-1534-10	110114699	158165091	85034282	14	13293											
UBR3	130507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170806129	170806130	+	Nonsense_Mutation	DNP	TC	TC	CT			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr2:170806129_170806130TC>CT	ENST00000272793.5	+	23	3149_3150	c.3099_3100TC>CT	c.(3097-3102)gcTCaa>gcCTaa	p.Q1034*	UBR3_ENST00000418381.1_Nonsense_Mutation_p.Q1034*			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1034					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1034*(1)|p.A1033A(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CTGGTACAGCTCAAGTTTTCAG	0.322																																																2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001587	stop_gained	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	Exception_encountered	2.37:g.170806129_170806130delinsCT	ENSP00000272793:p.Gln1034*		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent|Nonsense_Mutation	SNP	ENST00000272793.5	37																																																																																					0.322	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		CT	170806130	TC	CT	170806129	4	2	220	1	0	0	0	0	0	1	0	0	16908	1538	54	3	3189	3	UBR3	2	170806129	Nonsense_Mutation	DNP	TC	TCGA-B0-5702-01A-11D-1534-10	12641038	170806129	72393244	15	13294											
PPARG	5468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	12434123	12434123	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr3:12434123G>A	ENST00000287820.6	+	4	612	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	PPARG_ENST00000309576.6_Missense_Mutation_p.R136Q|PPARG_ENST00000397010.2_Missense_Mutation_p.R136Q|PPARG_ENST00000539812.1_Missense_Mutation_p.R134Q|PPARG_ENST00000397000.1_Missense_Mutation_p.R136Q|PPARG_ENST00000397015.2_Missense_Mutation_p.R136Q|PPARG_ENST00000397026.2_Missense_Mutation_p.R142Q|PPARG_ENST00000397012.2_Missense_Mutation_p.R136Q	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	164					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R164Q(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	GGTTTCTTCCGGAGAACAATC	0.388			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																																Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	1	Substitution - Missense(1)	kidney(1)											82	83	82					3																	12434123		2203	4300	6503	SO:0001583	missense	5468			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.491G>A	3.37:g.12434123G>A	ENSP00000287820:p.Arg164Gln		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	G	35	5.417321	0.96092	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000397000;ENST00000539812;ENST00000287820	D;D;D;D;D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56;-4.56;-4.56;-4.56;-4.56	5.57	5.57	0.84162	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.99211	1.0876	10	0.87932	D	0	.	19.5398	0.95270	0.0:0.0:1.0:0.0	.	164;150;136	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	Q	136;136;136;136;142;136;134;164	ENSP00000380205:R136Q;ENSP00000312472:R136Q;ENSP00000380210:R136Q;ENSP00000380207:R136Q;ENSP00000380221:R142Q;ENSP00000380196:R136Q;ENSP00000438940:R134Q;ENSP00000287820:R164Q	ENSP00000287820:R164Q	R	+	2	0	PPARG	12409123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.830000	0.99415	2.606000	0.88127	0.491000	0.48974	CGG		0.388	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		A	12434123	G	A	12434123	3	1	220	1	0	0	0	0	1	0	0	0	12301	1116	39	1	505	1	PPARG	3	12434123	Missense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10		12434123	185588307	16	13295											
CSRNP1	64651	broad.mit.edu;ucsc.edu	37	3	39185098	39185098	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr3:39185098C>A	ENST00000273153.5	-	5	1395	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	CSRNP1_ENST00000514182.1_Missense_Mutation_p.E406D	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	406					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E411delE(2)|p.E406D(1)|p.G404>?(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCTCTTCCTCCTCCTCCCCAC	0.607																																																4	Deletion - In frame(2)|Substitution - Missense(1)|Complex(1)	central_nervous_system(3)|kidney(1)											53	55	54					3																	39185098		2203	4300	6503	SO:0001583	missense	64651			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1218G>T	3.37:g.39185098C>A	ENSP00000273153:p.Glu406Asp		Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500843	0.26861	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.48836	0.8;0.8	4.36	1.46	0.22682	.	0.842832	0.10144	N	0.710452	T	0.33556	0.0867	L	0.43152	1.355	0.26185	N	0.979661	P	0.36535	0.557	B	0.35971	0.215	T	0.18178	-1.0345	10	0.22109	T	0.4	-7.639	3.6249	0.08109	0.1959:0.5926:0.0:0.2115	.	406	Q96S65	CSRN1_HUMAN	D	406	ENSP00000273153:E406D;ENSP00000422532:E406D	ENSP00000273153:E406D	E	-	3	2	CSRNP1	39160102	1.000000	0.71417	0.977000	0.42913	0.863000	0.49368	0.993000	0.29680	0.546000	0.28920	0.591000	0.81541	GAG		0.607	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		A	39185098	C	A	39185098	3	1	220	1	0	0	0	0	1	0	0	0	3965	680	24	4	555	4	CSRNP1	3	39185098	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	26750975	39185098	158837332	17	13296											
LRRC33	375387	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196387147	196387147	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr3:196387147C>A	ENST00000328557.4	+	3	836	c.633C>A	c.(631-633)aaC>aaA	p.N211K		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	211					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N211K(1)									GGCACCTCAACCTGGCCTTCA	0.637																																																1	Substitution - Missense(1)	kidney(1)											55	53	54					3																	196387147		2203	4300	6503	SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.633C>A	3.37:g.196387147C>A	ENSP00000328625:p.Asn211Lys			Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245078	0.59103	.	.	ENSG00000174004	ENST00000328557	T	0.60424	0.19	6.17	4.18	0.49190	.	0.091798	0.64402	D	0.000001	T	0.58694	0.2140	L	0.58925	1.835	0.80722	D	1	P	0.34780	0.468	P	0.44359	0.447	T	0.61744	-0.7000	10	0.59425	D	0.04	.	7.7946	0.29140	0.0:0.6851:0.0:0.3149	.	211	Q86YC3	LRC33_HUMAN	K	211	ENSP00000328625:N211K	ENSP00000328625:N211K	N	+	3	2	LRRC33	197871544	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.088000	0.41663	1.632000	0.50472	0.655000	0.94253	AAC		0.637	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		A	196387147	C	A	196387147	3	1	220	1	0	0	0	0	1	0	0	0	8990	506	18	4	639	4	LRRC33	3	196387147	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	157202049	196387147	1635283	18	13297											
PRDM9	56979	broad.mit.edu	37	5	23527472	23527472	+	Missense_Mutation	SNP	G	G	A	rs112666693		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr5:23527472G>A	ENST00000296682.3	+	11	2457	c.2275G>A	c.(2275-2277)Gat>Aat	p.D759N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	759					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.D759N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCTTTCGCGATAAGTCACA	0.572										HNSCC(3;0.000094)																																						1	Substitution - Missense(1)	kidney(1)											63	89	81					5																	23527472		2132	4296	6428	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2275G>A	5.37:g.23527472G>A	ENSP00000296682:p.Asp759Asn		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.937166	0.00484	.	.	ENSG00000164256	ENST00000296682	T	0.35605	1.3	2.65	-1.92	0.07618	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	N	0.02275	-0.615	0.09310	N	1	P	0.35155	0.487	B	0.13407	0.009	T	0.13764	-1.0497	9	0.37606	T	0.19	.	9.3631	0.38208	0.0:0.3794:0.5202:0.1004	.	759	Q9NQV7	PRDM9_HUMAN	N	759	ENSP00000296682:D759N	ENSP00000296682:D759N	D	+	1	0	PRDM9	23563229	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-14.321000	0.00000	-0.886000	0.03966	-4.161000	0.00010	GAT		0.572	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		A	23527472	G	A	23527472	3	1	220	1	0	0	0	0	1	0	0	0	12468	1058	37	1	2313	1	PRDM9	5	23527472	Missense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10		23527472	157387788	19	13298											
BRPF3	27154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36177586	36177586	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr6:36177586T>C	ENST00000357641.6	+	5	2013	c.1760T>C	c.(1759-1761)aTg>aCg	p.M587T	BRPF3_ENST00000534400.1_Missense_Mutation_p.M587T|BRPF3_ENST00000339717.7_Missense_Mutation_p.M587T|BRPF3_ENST00000443324.2_Missense_Mutation_p.M587T|BRPF3_ENST00000543502.1_Missense_Mutation_p.M587T|BRPF3_ENST00000534694.1_Missense_Mutation_p.M587T	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	587					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.M587T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAGGCTGCCATGGAGCTGGAG	0.498																																																1	Substitution - Missense(1)	kidney(1)											91	82	85					6																	36177586		2203	4300	6503	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1760T>C	6.37:g.36177586T>C	ENSP00000350267:p.Met587Thr		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.355661	0.41700	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000394572	T;T;T;T;T;T	0.16897	2.5;2.45;2.44;2.45;2.44;2.31	5.92	5.92	0.95590	Bromodomain (2);	0.089181	0.85682	D	0.000000	T	0.08268	0.0206	L	0.46614	1.455	0.58432	D	0.999999	B;B;P	0.38335	0.156;0.156;0.627	B;B;B	0.29598	0.049;0.049;0.104	T	0.06588	-1.0818	10	0.41790	T	0.15	.	16.3662	0.83325	0.0:0.0:0.0:1.0	.	587;587;587	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	T	587;587;587;587;587;587;1	ENSP00000350267:M587T;ENSP00000345419:M587T;ENSP00000434501:M587T;ENSP00000445352:M587T;ENSP00000387368:M587T;ENSP00000436504:M587T	ENSP00000345419:M587T	M	+	2	0	BRPF3	36285564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.163000	0.71880	2.274000	0.75844	0.533000	0.62120	ATG		0.498	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		C	36177586	T	C	36177586	3	2	220	1	0	0	0	0	1	0	0	0	1523	1464	51	3	1774	3	BRPF3	6	36177586	Missense_Mutation	SNP	T	TCGA-B0-5702-01A-11D-1534-10		36177586	134937481	20	13299											
PSD3	23362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	18413784	18413784	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr8:18413784C>A	ENST00000327040.8	-	15	2965	c.2863G>T	c.(2863-2865)Gac>Tac	p.D955Y	PSD3_ENST00000428502.2_Missense_Mutation_p.D284Y|PSD3_ENST00000440756.2_Missense_Mutation_p.D957Y|PSD3_ENST00000523619.1_Missense_Mutation_p.D890Y|PSD3_ENST00000286485.8_Missense_Mutation_p.D421Y	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATAT	0.483																																																2	Substitution - Missense(2)	kidney(2)											203	198	200					8																	18413784		2203	4300	6503	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2863G>T	8.37:g.18413784C>A	ENSP00000324127:p.Asp955Tyr		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475697	0.63737	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.20069	2.73;2.74;2.1;2.73	5.49	5.49	0.81192	.	0.110360	0.33346	U	0.005009	T	0.46367	0.1389	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.71674	0.995;0.995;0.983;0.998	D;D;P;D	0.68192	0.955;0.955;0.896;0.956	T	0.42258	-0.9462	10	0.72032	D	0.01	.	16.8703	0.86039	0.0:1.0:0.0:0.0	.	955;956;421;284	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	Y	955;957;177;421;284;890	ENSP00000324127:D955Y;ENSP00000401704:D957Y;ENSP00000286485:D421Y;ENSP00000430640:D890Y	ENSP00000286485:D421Y	D	-	1	0	PSD3	18458064	1.000000	0.71417	0.954000	0.39281	0.296000	0.27459	7.373000	0.79623	2.590000	0.87494	0.563000	0.77884	GAC		0.483	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		A	18413784	C	A	18413784	3	1	220	1	0	0	0	0	1	0	0	0	12653	884	31	4	288	4	PSD3	8	18413784	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10		18413784	127950238	21	13300											
XPO7	23039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	21827777	21827777	+	Missense_Mutation	SNP	T	T	A	rs576438786		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr8:21827777T>A	ENST00000252512.9	+	4	482	c.382T>A	c.(382-384)Tat>Aat	p.Y128N	XPO7_ENST00000433566.4_Missense_Mutation_p.Y129N|XPO7_ENST00000434536.1_Missense_Mutation_p.Y128N|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	128					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)	p.Y128N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GAAGGATGACTATGTCTTCAG	0.408													T|||	1	0.000199681	0.0	0.0	5008	,	,		17479	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											127	125	125					8																	21827777		1904	4132	6036	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.382T>A	8.37:g.21827777T>A	ENSP00000252512:p.Tyr128Asn		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.730646	0.69074	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.23147	1.92;1.92;1.92	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	L	0.50333	1.59	0.80722	D	1	P;B;B	0.46859	0.885;0.004;0.001	P;B;B	0.44990	0.466;0.006;0.006	T	0.02539	-1.1144	10	0.20519	T	0.43	-12.4989	15.649	0.77076	0.0:0.0:0.0:1.0	.	129;128;128	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	N	128;128;129	ENSP00000404853:Y128N;ENSP00000252512:Y128N;ENSP00000410249:Y129N	ENSP00000252512:Y128N	Y	+	1	0	XPO7	21883723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.214000	0.72200	2.239000	0.73571	0.482000	0.46254	TAT		0.408	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		A	21827777	T	A	21827777	3	1	220	1	0	0	0	0	1	0	0	0	17454	1522	53	5	421	5	XPO7	8	21827777	Missense_Mutation	SNP	T	TCGA-B0-5702-01A-11D-1534-10	3413993	21827777	124536245	22	13301											
KCNU1	157855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	36790510	36790510	+	Silent	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr8:36790510C>A	ENST00000399881.3	+	26	3041	c.3004C>A	c.(3004-3006)Cga>Aga	p.R1002R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1002					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R1002R(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGGCTTATACCGAATAATTGA	0.428																																																2	Substitution - coding silent(2)	kidney(2)											117	110	112					8																	36790510		1859	4106	5965	SO:0001819	synonymous_variant	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3004C>A	8.37:g.36790510C>A				Silent	SNP	ENST00000399881.3	37	CCDS55220.1																																																																																				0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		A	36790510	C	A	36790510	2	1	220	1	0	0	0	0	0	0	0	1	8095	644	23	4		4	KCNU1	8	36790510	Silent	SNP	C	TCGA-B0-5702-01A-11D-1534-10	14962733	36790510	109573512	23	13302											
CLVS1	157807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	62412012	62412012	+	Splice_Site	SNP	A	A	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr8:62412012A>T	ENST00000519846.1	+	7	1449		c.e7-1		CLVS1_ENST00000325897.4_Splice_Site|CLVS1_ENST00000518858.1_Splice_Site|CLVS1_ENST00000518592.1_Splice_Site			Q8IUQ0	CLVS1_HUMAN	clavesin 1						lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.?(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCCTCTTGTTAGATCTCAGTC	0.433																																																1	Unknown(1)	kidney(1)											115	110	112					8																	62412012		2203	4300	6503	SO:0001630	splice_region_variant	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.978-1A>T	8.37:g.62412012A>T			B2R7M5|C8UZT3|Q8NB32	Splice_Site	SNP	ENST00000519846.1	37	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237247	0.79800	.	.	ENSG00000177182	ENST00000519846;ENST00000518592;ENST00000325897;ENST00000520712	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4138	0.74948	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLVS1	62574566	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.240000	0.78192	2.285000	0.76669	0.528000	0.53228	.		0.433	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519	Intron	T	62412012	A	T	62412012	5	4	220	1	0	0	0	0	0	0	1	0	3573	434	15	5	994	5	CLVS1	8	62412012	Splice_Site	SNP	A	TCGA-B0-5702-01A-11D-1534-10	25621502	62412012	83952010	24	13303											
TATDN1	83940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125535229	125535229	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr8:125535229A>C	ENST00000276692.6	-	2	74	c.37T>G	c.(37-39)Ttg>Gtg	p.L13V	TATDN1_ENST00000519548.1_Intron|TATDN1_ENST00000605953.1_Missense_Mutation_p.L13V|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000517678.1_5'UTR	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	13					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.L13V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGTCAGTCAAGTTGATACCA	0.313																																																1	Substitution - Missense(1)	kidney(1)											79	84	82					8																	125535229		2203	4300	6503	SO:0001583	missense	83940			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.37T>G	8.37:g.125535229A>C	ENSP00000276692:p.Leu13Val		B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.35|18.35	3.605081|3.605081	0.66445|0.66445	.|.	.|.	ENSG00000147687|ENSG00000147687	ENST00000519232|ENST00000276692;ENST00000522810	.|.	.|.	.|.	5.66|5.66	1.49|1.49	0.22878|0.22878	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.81446|0.81446	0.4824|0.4824	H|H	0.94462|0.94462	3.54|3.54	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.991	.|D;D	.|0.78314	.|0.991;0.98	T|T	0.80924|0.80924	-0.1165|-0.1165	6|9	.|0.87932	.|D	.|0	-11.3498|-11.3498	8.8953|8.8953	0.35460|0.35460	0.61:0.0:0.39:0.0|0.61:0.0:0.39:0.0	.|.	.|13;13	.|E5RG17;Q6P1N9	.|.;TATD1_HUMAN	R|V	42|13	.|.	.|ENSP00000276692:L13V	L|L	-|-	2|1	0|2	TATDN1|TATDN1	125604410|125604410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.253000|1.253000	0.32886|0.32886	0.073000|0.073000	0.16731|0.16731	0.523000|0.523000	0.50628|0.50628	CTT|TTG		0.313	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		C	125535229	A	C	125535229	3	2	220	1	0	0	0	0	1	0	0	0	15596	69	3	5	900	5	TATDN1	8	125535229	Missense_Mutation	SNP	A	TCGA-B0-5702-01A-11D-1534-10	63123217	125535229	20828793	25	13304											
PIGO	84720	broad.mit.edu;ucsc.edu	37	9	35090534	35090534	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr9:35090534T>G	ENST00000378617.3	-	8	3177	c.2783A>C	c.(2782-2784)cAt>cCt	p.H928P	PIGO_ENST00000298004.5_Missense_Mutation_p.H511P|PIGO_ENST00000361778.2_Missense_Mutation_p.H511P|PIGO_ENST00000341666.3_Missense_Mutation_p.H928P	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	928				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8; BAB89338). {ECO:0000305}.	C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.H928P(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACAGGAGCCATGACCCTCTGG	0.582																																																1	Substitution - Missense(1)	kidney(1)											59	53	55					9																	35090534		2203	4300	6503	SO:0001583	missense	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2783A>C	9.37:g.35090534T>G	ENSP00000367880:p.His928Pro		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.437060	0.43224	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.4	3.05	0.35203	.	0.256906	0.39274	N	0.001412	T	0.79604	0.4474	L	0.48642	1.525	0.29526	N	0.853112	D;B	0.56968	0.978;0.011	P;B	0.55508	0.777;0.007	T	0.72571	-0.4253	10	0.35671	T	0.21	-1.0849	6.9201	0.24383	0.1334:0.0724:0.0:0.7942	.	511;928	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	P	511;928;928;511	ENSP00000298004:H511P;ENSP00000367880:H928P;ENSP00000339382:H928P;ENSP00000354678:H511P	ENSP00000298004:H511P	H	-	2	0	PIGO	35080534	1.000000	0.71417	0.893000	0.35052	0.994000	0.84299	2.994000	0.49433	0.484000	0.27630	0.533000	0.62120	CAT		0.582	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		G	35090534	T	G	35090534	3	3	220	1	0	0	0	0	1	0	0	0	11896	1464	51	5	502	5	PIGO	9	35090534	Missense_Mutation	SNP	T	TCGA-B0-5702-01A-11D-1534-10		35090534	106122897	26	13305											
C9orf89	84270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95874559	95874559	+	Missense_Mutation	SNP	T	T	A	rs147126180		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr9:95874559T>A	ENST00000375464.2	+	5	552	c.424T>A	c.(424-426)Tgc>Agc	p.C142S	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	147					negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)	p.C142S(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GCTCCTGTACTGCTATCCGCC	0.672																																																1	Substitution - Missense(1)	kidney(1)											42	33	36					9																	95874559		2078	4033	6111	SO:0001583	missense	84270			AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"Bcl10-interacting protein with CARD"					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.424T>A	9.37:g.95874559T>A	ENSP00000364613:p.Cys142Ser		Q5BJH8|Q9BSY2	Missense_Mutation	SNP	ENST00000375464.2	37	CCDS6702.2	.	.	.	.	.	.	.	.	.	.	T	13.66	2.303369	0.40795	.	.	ENSG00000165233	ENST00000375464	.	.	.	4.53	3.28	0.37604	.	2.166600	0.02142	N	0.057227	T	0.68412	0.2998	.	.	.	0.58432	D	0.999994	D	0.61080	0.989	P	0.58266	0.836	T	0.62431	-0.6856	8	0.33141	T	0.24	.	8.5014	0.33161	0.1738:0.0:0.0:0.8261	.	142	Q96LW7-2	.	S	142	.	ENSP00000364613:C142S	C	+	1	0	C9orf89	94914380	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	3.729000	0.54999	1.988000	0.58038	0.459000	0.35465	TGC		0.672	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	NM_032310		A	95874559	T	A	95874559	3	1	220	1	0	0	0	0	1	0	0	0	2505	1580	55	5	442	5	C9orf89	9	95874559	Missense_Mutation	SNP	T	TCGA-B0-5702-01A-11D-1534-10	60784025	95874559	45338872	27	13306											
RRM1	6240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4133183	4133183	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr11:4133183G>A	ENST00000300738.5	+	7	745	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	RRM1_ENST00000423050.2_Missense_Mutation_p.E84K	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	181					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.E181K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GATCCACAAAGAAGACATTGA	0.418																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)											1	Substitution - Missense(1)	kidney(1)											114	111	112					11																	4133183		2201	4298	6499	SO:0001583	missense	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.541G>A	11.37:g.4133183G>A	ENSP00000300738:p.Glu181Lys		Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764663	0.49574	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894	T;T	0.32023	1.48;1.47	5.47	5.47	0.80525	Ribonucleotide reductase large subunit, N-terminal (1);Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase R1 subunit, N-terminal (1);	0.426226	0.29668	N	0.011507	T	0.36880	0.0983	M	0.82323	2.585	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.23368	-1.0190	10	0.42905	T	0.14	-17.7094	10.341	0.43877	0.1514:0.0:0.8486:0.0	.	181	P23921	RIR1_HUMAN	K	181;84;94	ENSP00000300738:E181K;ENSP00000390539:E84K	ENSP00000300738:E181K	E	+	1	0	RRM1	4089759	0.660000	0.27420	1.000000	0.80357	0.855000	0.48748	1.180000	0.32005	2.724000	0.93272	0.655000	0.94253	GAA		0.418	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		A	4133183	G	A	4133183	3	1	220	1	0	0	0	0	1	0	0	0	13687	943	33	2	567	2	RRM1	11	4133183	Missense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10		4133183	130873333	28	13307											
OR52I1	390037	broad.mit.edu;ucsc.edu	37	11	4616186	4616186	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr11:4616186G>C	ENST00000530443.2	+	1	918	c.918G>C	c.(916-918)gaG>gaC	p.E306D	OR52I1_ENST00000450052.2_Missense_Mutation_p.E330D	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E331D(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATTGCTGGAGGGAATATGGA	0.468																																																1	Substitution - Missense(1)	kidney(1)											116	113	114					11																	4616186		2201	4298	6499	SO:0001583	missense	390037			BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.918G>C	11.37:g.4616186G>C	ENSP00000436453:p.Glu306Asp		Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	G	7.120	0.577717	0.13686	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.37584	1.19;1.19	4.96	2.03	0.26663	.	0.882556	0.09406	N	0.806501	T	0.15912	0.0383	N	0.11673	0.155	0.22996	N	0.998456	B	0.06786	0.001	B	0.08055	0.003	T	0.37197	-0.9716	9	0.08837	T	0.75	-0.1114	4.4755	0.11733	0.1858:0.0:0.6373:0.1769	.	306	Q8NGK6	O52I1_HUMAN	D	330;306	ENSP00000409094:E330D;ENSP00000436453:E306D	ENSP00000409094:E330D	E	+	3	2	OR52I1	4572762	.	.	0.003000	0.11579	0.011000	0.07611	.	.	0.362000	0.24319	0.555000	0.69702	GAG		0.468	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		C	4616186	G	C	4616186	3	2	220	1	0	0	0	0	1	0	0	0	11122	991	35	4	920	4	OR52I1	11	4616186	Missense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10	483003	4616186	130390330	29	13308											
CCKBR	887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6290923	6290923	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr11:6290923C>T	ENST00000334619.2	+	2	369	c.176C>T	c.(175-177)aCt>aTt	p.T59I	CCKBR_ENST00000525462.1_Missense_Mutation_p.T59I|CCKBR_ENST00000525014.1_Missense_Mutation_p.T59I|CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000532715.1_Intron	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	59					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.T59I(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ATTAGAATCACTCTTTACGCA	0.527																																																2	Substitution - Missense(2)	kidney(2)											100	89	93					11																	6290923		2201	4296	6497	SO:0001583	missense	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.176C>T	11.37:g.6290923C>T	ENSP00000335544:p.Thr59Ile		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	C	8.917	0.960125	0.18507	.	.	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	T;T;T	0.34667	1.35;1.35;1.35	4.61	4.61	0.57282	.	0.187243	0.38436	N	0.001691	T	0.32882	0.0844	L	0.47716	1.5	0.37607	D	0.920783	P;B	0.37548	0.599;0.069	B;B	0.44108	0.441;0.032	T	0.16600	-1.0397	10	0.19590	T	0.45	.	6.8609	0.24066	0.0:0.8124:0.0:0.1876	.	59;59	P32239-2;P32239	.;GASR_HUMAN	I	59	ENSP00000335544:T59I;ENSP00000437001:T59I;ENSP00000435534:T59I	ENSP00000335544:T59I	T	+	2	0	CCKBR	6247499	0.998000	0.40836	0.993000	0.49108	0.874000	0.50279	5.600000	0.67599	2.398000	0.81561	0.563000	0.77884	ACT		0.527	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		T	6290923	C	T	6290923	3	4	220	1	0	0	0	0	1	0	0	0	2883	565	20	2	182	2	CCKBR	11	6290923	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	1674737	6290923	128715593	30	13309											
ELP4	26610	broad.mit.edu	37	11	31541630	31541630	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr11:31541630T>C	ENST00000350638.5	+	2	286	c.251T>C	c.(250-252)cTt>cCt	p.L84P	ELP4_ENST00000395934.2_Missense_Mutation_p.L84P|ELP4_ENST00000379163.5_Missense_Mutation_p.L84P	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	84					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|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)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)	p.L84P(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GGAACAGTTCTTCTAATTGGT	0.318																																																2	Substitution - Missense(2)	kidney(2)											262	244	249					11																	31541630		1836	4092	5928	SO:0001583	missense	26610			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.251T>C	11.37:g.31541630T>C	ENSP00000298937:p.Leu84Pro		B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196875	0.58126	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.54479	0.57;0.57;0.57	5.15	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77004	0.989;0.974;0.985	T	0.73414	-0.3990	10	0.72032	D	0.01	-1.0173	9.7321	0.40368	0.0:0.0794:0.0:0.9206	.	84;84;84	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	P	84	ENSP00000298937:L84P;ENSP00000368461:L84P;ENSP00000379267:L84P	ENSP00000298937:L84P	L	+	2	0	ELP4	31498206	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.825000	0.62708	0.913000	0.36797	0.455000	0.32223	CTT		0.318	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		C	31541630	T	C	31541630	3	2	220	1	0	0	0	0	1	0	0	0	5084	1609	56	3	257	3	ELP4	11	31541630	Missense_Mutation	SNP	T	TCGA-B0-5702-01A-11D-1534-10	25250707	31541630	103464886	31	13310											
ATF7IP	55729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14577910	14577910	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr12:14577910C>T	ENST00000540793.1	+	1	1216	c.1061C>T	c.(1060-1062)aCa>aTa	p.T354I	ATF7IP_ENST00000544627.1_Missense_Mutation_p.T362I|ATF7IP_ENST00000543189.1_Missense_Mutation_p.T354I|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.T354I|ATF7IP_ENST00000261168.4_Missense_Mutation_p.T354I			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	354	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.T354I(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACTCTAGAAACAGATGATACA	0.338																																																1	Substitution - Missense(1)	kidney(1)											68	76	74					12																	14577910		2203	4299	6502	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1061C>T	12.37:g.14577910C>T	ENSP00000444589:p.Thr354Ile		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014804	0.54468	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.27256	2.07;2.05;2.07;2.07;1.68;2.07	5.55	4.43	0.53597	.	0.310493	0.27397	N	0.019551	T	0.30293	0.0760	L	0.54323	1.7	0.18873	N	0.999987	P;P;P;P;P	0.49358	0.923;0.923;0.465;0.465;0.617	P;P;B;B;B	0.47891	0.56;0.56;0.295;0.295;0.382	T	0.18116	-1.0347	10	0.72032	D	0.01	-3.4365	9.8774	0.41211	0.0:0.8175:0.0:0.1825	.	362;354;354;354;354	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	I	354;354;354;362;354;354	ENSP00000261168:T354I;ENSP00000443179:T354I;ENSP00000445955:T354I;ENSP00000440440:T362I;ENSP00000379575:T354I;ENSP00000444589:T354I	ENSP00000261168:T354I	T	+	2	0	ATF7IP	14469177	0.990000	0.36364	0.965000	0.40720	0.978000	0.69477	0.954000	0.29175	2.753000	0.94483	0.655000	0.94253	ACA		0.338	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		T	14577910	C	T	14577910	3	4	220	1	0	0	0	0	1	0	0	0	1087	478	17	2	1063	2	ATF7IP	12	14577910	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10		14577910	119273985	32	13311											
KRT7	3855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52629134	52629134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr12:52629134G>T	ENST00000331817.5	+	2	703	c.520G>T	c.(520-522)Gag>Tag	p.E174*		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	174	Coil 1B.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.E174*(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GGATGTGGTGGAGGACTTCAA	0.627																																																2	Substitution - Nonsense(2)	kidney(2)											51	56	55					12																	52629134		2203	4300	6503	SO:0001587	stop_gained	3855				CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.520G>T	12.37:g.52629134G>T	ENSP00000329243:p.Glu174*		Q92676|Q9BUD8|Q9Y3R7	Nonsense_Mutation	SNP	ENST00000331817.5	37	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	37	6.250730	0.97412	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	.	.	.	4.41	4.41	0.53225	.	0.235594	0.21995	N	0.066082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5676	0.87924	0.0:0.0:1.0:0.0	.	.	.	.	X	174;174;150;174	.	ENSP00000329243:E174X	E	+	1	0	KRT7	50915401	1.000000	0.71417	0.913000	0.36048	0.989000	0.77384	9.601000	0.98297	2.447000	0.82792	0.655000	0.94253	GAG		0.627	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		T	52629134	G	T	52629134	4	4	220	1	0	0	0	0	0	1	0	0	8485	1175	41	4	526	4	KRT7	12	52629134	Nonsense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10	38051224	52629134	81222761	33	13312											
MDM1	56890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	68720392	68720392	+	Intron	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr12:68720392G>A	ENST00000303145.7	-	3	585				MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000545724.1_Intron|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000430606.2_Silent_p.F181F	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)						retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.F181F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGAAACCAATGAAGAATTCTA	0.313																																																1	Substitution - coding silent(1)	kidney(1)											69	74	72					12																	68720392		2203	4300	6503	SO:0001627	intron_variant	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.498+44C>T	12.37:g.68720392G>A			B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	ENST00000303145.7	37	CCDS8983.1																																																																																				0.313	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		A	68720392	G	A	68720392	1	1	220	0	1	0	0	0	0	0	0	0	9414	1281	45	2		2	MDM1	12	68720392	Intron	SNP	G	TCGA-B0-5702-01A-11D-1534-10	16091258	68720392	65131503	34	13313											
BBS10	79738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	76740157	76740157	+	Silent	SNP	A	A	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr12:76740157A>G	ENST00000393262.3	-	2	1691	c.1608T>C	c.(1606-1608)taT>taC	p.Y536Y		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	536					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.Y536Y(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATGGTTCATAATAATCAGTTA	0.348									Bardet-Biedl syndrome																																							1	Substitution - coding silent(1)	kidney(1)											134	129	131					12																	76740157		2203	4300	6503	SO:0001819	synonymous_variant	79738	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1608T>C	12.37:g.76740157A>G			Q96CW2|Q9H5D2	Silent	SNP	ENST00000393262.3	37	CCDS9014.2																																																																																				0.348	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		G	76740157	A	G	76740157	2	3	220	1	0	0	0	0	0	0	0	1	1336	108	4	3		3	BBS10	12	76740157	Silent	SNP	A	TCGA-B0-5702-01A-11D-1534-10	8019765	76740157	57111738	35	13314											
EEA1	8411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	93202807	93202807	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr12:93202807T>A	ENST00000322349.8	-	18	2589	c.2325A>T	c.(2323-2325)gaA>gaT	p.E775D		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	775					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.E775D(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CCTTCTCCATTTCAAGTTGTT	0.348																																																1	Substitution - Missense(1)	kidney(1)											127	112	118					12																	93202807		2203	4300	6503	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2325A>T	12.37:g.93202807T>A	ENSP00000317955:p.Glu775Asp		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647873	0.29336	.	.	ENSG00000102189	ENST00000322349	T	0.77877	-1.13	5.84	2.1	0.27182	.	0.123355	0.35495	N	0.003178	T	0.55289	0.1911	N	0.19112	0.55	0.33052	D	0.532911	B	0.11235	0.004	B	0.09377	0.004	T	0.45411	-0.9263	10	0.22109	T	0.4	.	2.8	0.05412	0.1189:0.1329:0.1238:0.6245	.	775	Q15075	EEA1_HUMAN	D	775	ENSP00000317955:E775D	ENSP00000317955:E775D	E	-	3	2	EEA1	91726938	0.997000	0.39634	0.749000	0.31150	0.768000	0.43524	1.446000	0.35090	0.420000	0.25954	-0.313000	0.08912	GAA		0.348	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		A	93202807	T	A	93202807	3	1	220	1	0	0	0	0	1	0	0	0	4923	1838	64	5	1958	5	EEA1	12	93202807	Missense_Mutation	SNP	T	TCGA-B0-5702-01A-11D-1534-10	16462650	93202807	40649088	36	13315											
KLHDC1	122773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	50206889	50206889	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr14:50206889G>A	ENST00000359332.2	+	11	1060	c.970G>A	c.(970-972)Gcc>Acc	p.A324T	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	324						cytoplasm (GO:0005737)		p.A324T(1)		kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					TGACTTACTTGCCTTGGATAC	0.333																																																1	Substitution - Missense(1)	kidney(1)											85	87	86					14																	50206889		2203	4299	6502	SO:0001583	missense	122773			AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.970G>A	14.37:g.50206889G>A	ENSP00000352282:p.Ala324Thr		B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	37	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971287	0.53614	.	.	ENSG00000197776	ENST00000359332;ENST00000557128	T;T	0.66638	-0.22;4.01	5.74	4.6	0.57074	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.333414	0.32563	N	0.005923	T	0.50718	0.1632	L	0.27053	0.805	0.25802	N	0.984496	B;B	0.14438	0.01;0.002	B;B	0.18561	0.022;0.007	T	0.28004	-1.0057	10	0.10902	T	0.67	-1.4404	12.9382	0.58327	0.0:0.0:0.1415:0.8585	.	195;324	G3V3T1;Q8N7A1	.;KLDC1_HUMAN	T	324;195	ENSP00000352282:A324T;ENSP00000451407:A195T	ENSP00000352282:A324T	A	+	1	0	KLHDC1	49276639	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.853000	0.55941	1.010000	0.39314	-0.467000	0.05162	GCC		0.333	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		A	50206889	G	A	50206889	3	1	220	1	0	0	0	0	1	0	0	0	8356	1319	46	2	1012	2	KLHDC1	14	50206889	Missense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10		50206889	57142651	37	13316											
IGDCC3	9543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65628159	65628159	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr15:65628159T>A	ENST00000327987.4	-	3	796	c.545A>T	c.(544-546)gAc>gTc	p.D182V	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	182	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.D182V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCTCATTGTCCGTGTCAAT	0.592																																																1	Substitution - Missense(1)	kidney(1)											173	162	166					15																	65628159		2201	4299	6500	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.545A>T	15.37:g.65628159T>A	ENSP00000332773:p.Asp182Val		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613665	0.28712	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.44881	0.91	5.06	-0.533	0.11887	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.849276	0.10624	N	0.653041	T	0.36303	0.0962	L	0.46614	1.455	0.23820	N	0.996752	B	0.32862	0.387	B	0.38755	0.281	T	0.38950	-0.9637	10	0.54805	T	0.06	-20.4753	6.2049	0.20598	0.0:0.2536:0.131:0.6153	.	182	Q8IVU1	IGDC3_HUMAN	V	182;45	ENSP00000332773:D182V	ENSP00000332773:D182V	D	-	2	0	IGDCC3	63415212	0.000000	0.05858	0.035000	0.18076	0.843000	0.47879	0.606000	0.24194	-0.019000	0.14055	0.533000	0.62120	GAC		0.592	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		A	65628159	T	A	65628159	3	1	220	1	0	0	0	0	1	0	0	0	7570	1667	58	5	1947	5	IGDCC3	15	65628159	Missense_Mutation	SNP	T	TCGA-B0-5702-01A-11D-1534-10		65628159	36903233	38	13317											
CYP1A2	1544	broad.mit.edu	37	15	75047169	75047169	+	Missense_Mutation	SNP	C	C	T	rs28399424	byFrequency	TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr15:75047169C>T	ENST00000343932.4	+	7	1354	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	431			R -> W (in allele CYP1A2*6; not detected when expressed in heterologous system as it may be critical for maintenance of protein tertiary structure; dbSNP:rs28399424). {ECO:0000269|PubMed:11295848, ECO:0000269|PubMed:15469410}.		alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.R431W(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CCGGCCTGAGCGGTTCCTCAC	0.617													C|||	4	0.000798722	0.0	0.0014	5008	,	,		14832	0.0		0.003	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	TRP/ARG	0,4394		0,0,2197	78	78	78		1291	1	1	15	dbSNP_125	78	7,8585	6.4+/-24.3	0,7,4289	yes	missense	CYP1A2	NM_000761.3	101	0,7,6486	TT,TC,CC		0.0815,0.0,0.0539	probably-damaging	431/517	75047169	7,12979	2197	4296	6493	SO:0001583	missense	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1291C>T	15.37:g.75047169C>T	ENSP00000342007:p.Arg431Trp		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	15.40	2.822095	0.50739	0.0	8.15E-4	ENSG00000140505	ENST00000343932	D	0.94280	-3.39	4.42	1.02	0.19986	.	0.000000	0.85682	D	0.000000	D	0.98232	0.9415	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98285	1.0510	10	0.87932	D	0	.	14.045	0.64700	0.4089:0.5911:0.0:0.0	rs28399424	431	P05177-2	.	W	431	ENSP00000342007:R431W	ENSP00000342007:R431W	R	+	1	2	CYP1A2	72834222	0.997000	0.39634	0.998000	0.56505	0.286000	0.27126	0.566000	0.23593	0.438000	0.26450	0.455000	0.32223	CGG		0.617	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		T	75047169	C	T	75047169	3	4	220	1	0	0	0	0	1	0	0	0	4152	759	27	1	1313	1	CYP1A2	15	75047169	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	9419010	75047169	27484223	39	13318											
ITPRIPL2	162073	broad.mit.edu	37	16	19127313	19127313	+	Silent	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr16:19127313C>T	ENST00000381440.3	+	1	2060	c.1530C>T	c.(1528-1530)taC>taT	p.Y510Y	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	510						integral component of membrane (GO:0016021)		p.Y510Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TCCGGGCCTACGGGGGTCCCC	0.677																																																1	Substitution - coding silent(1)	kidney(1)											41	47	45					16																	19127313		2197	4299	6496	SO:0001819	synonymous_variant	162073				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1530C>T	16.37:g.19127313C>T				Silent	SNP	ENST00000381440.3	37	CCDS32395.1																																																																																				0.677	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		T	19127313	C	T	19127313	2	4	220	1	0	0	0	0	0	0	0	1	7927	547	19	1		1	ITPRIPL2	16	19127313	Silent	SNP	C	TCGA-B0-5702-01A-11D-1534-10		19127313	71227440	40	13319											
PHKB	5257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	47698832	47698832	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr16:47698832A>C	ENST00000323584.5	+	25	2397	c.2373A>C	c.(2371-2373)aaA>aaC	p.K791N	PHKB_ENST00000455779.1_Missense_Mutation_p.K784N|PHKB_ENST00000299167.8_Intron|PHKB_ENST00000566044.1_Intron	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	791	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.K791N(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTACCCAGAAATTTTCTTCCT	0.438																																																2	Substitution - Missense(2)	kidney(2)											79	70	73					16																	47698832		2201	4300	6501	SO:0001583	missense	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2373A>C	16.37:g.47698832A>C	ENSP00000313504:p.Lys791Asn		Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173867	0.78452	.	.	ENSG00000102893	ENST00000455779;ENST00000323584	D;D	0.90444	-2.67;-2.67	5.66	5.66	0.87406	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95711	0.8605	M	0.91406	3.205	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.95955	0.8957	10	0.59425	D	0.04	-28.5261	11.0019	0.47611	0.9274:0.0:0.0726:0.0	.	791	Q93100	KPBB_HUMAN	N	784;791	ENSP00000414345:K784N;ENSP00000313504:K791N	ENSP00000313504:K791N	K	+	3	2	PHKB	46256333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.585000	0.67497	2.141000	0.66446	0.533000	0.62120	AAA		0.438	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			C	47698832	A	C	47698832	3	2	220	1	0	0	0	0	1	0	0	0	11847	98	4	5	2530	5	PHKB	16	47698832	Missense_Mutation	SNP	A	TCGA-B0-5702-01A-11D-1534-10	28571519	47698832	42655921	41	13320											
FTSJD1	55783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71319019	71319019	+	Missense_Mutation	SNP	C	C	T	rs559412558		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr16:71319019C>T	ENST00000338099.5	-	3	1141	c.805G>A	c.(805-807)Ggt>Agt	p.G269S	CMTR2_ENST00000434935.2_Missense_Mutation_p.G269S			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	269	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.G269S(1)									AAAGAGCCACCGTTTCCAAGA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		23031	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											85	88	87					16																	71319019		2198	4300	6498	SO:0001583	missense	55783			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.805G>A	16.37:g.71319019C>T	ENSP00000337512:p.Gly269Ser		B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295735	0.81025	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.61742	0.08;0.08	5.95	5.95	0.96441	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.052881	0.85682	D	0.000000	T	0.80132	0.4567	M	0.88181	2.935	0.80722	D	1	D	0.71674	0.998	D	0.64776	0.929	T	0.82705	-0.0325	10	0.72032	D	0.01	-24.3165	19.3601	0.94434	0.0:1.0:0.0:0.0	.	269	Q8IYT2	FTSJ1_HUMAN	S	269	ENSP00000337512:G269S;ENSP00000411148:G269S	ENSP00000337512:G269S	G	-	1	0	FTSJD1	69876520	1.000000	0.71417	0.972000	0.41901	0.875000	0.50365	5.757000	0.68766	2.826000	0.97356	0.491000	0.48974	GGT		0.388	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		T	71319019	C	T	71319019	3	4	220	1	0	0	0	0	1	0	0	0	6092	652	23	1	1511	1	FTSJD1	16	71319019	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	23620187	71319019	19035734	42	13321											
DHRS13	147015	broad.mit.edu;ucsc.edu	37	17	27225663	27225663	+	Silent	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr17:27225663C>T	ENST00000378895.4	-	5	1056	c.930G>A	c.(928-930)ctG>ctA	p.L310L	RP11-20B24.4_ENST00000580603.1_RNA|FLOT2_ENST00000394908.4_5'Flank|RP11-20B24.4_ENST00000579187.1_RNA|FLOT2_ENST00000394906.2_5'Flank|DHRS13_ENST00000426464.2_Silent_p.L229L|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Silent_p.L260L|FLOT2_ENST00000585169.1_5'Flank|FLOT2_ENST00000577789.1_5'Flank	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	310						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.L310L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CAAGCCCTGCCAGCCTCTTGC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											15	18	17					17																	27225663		2203	4300	6503	SO:0001819	synonymous_variant	147015			BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	28326	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 5"					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.930G>A	17.37:g.27225663C>T			Q96BH7	Silent	SNP	ENST00000378895.4	37	CCDS11246.2																																																																																				0.627	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		T	27225663	C	T	27225663	2	4	220	1	0	0	0	0	0	0	0	1	4491	581	21	2		2	DHRS13	17	27225663	Silent	SNP	C	TCGA-B0-5702-01A-11D-1534-10		27225663	53969547	43	13322											
ACLY	47	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40054059	40054059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr17:40054059C>A	ENST00000352035.2	-	13	1502	c.1372G>T	c.(1372-1374)Gag>Tag	p.E458*	ACLY_ENST00000590151.1_Nonsense_Mutation_p.E458*|ACLY_ENST00000537919.1_Nonsense_Mutation_p.E197*|ACLY_ENST00000393896.2_Nonsense_Mutation_p.E458*|ACLY_ENST00000353196.1_Nonsense_Mutation_p.E458*	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	458				SES -> YESMVDEV (in Ref. 1; CAA45614). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.E458*(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCCTGGACTCAGAAAAAGAT	0.567																																					Colon(64;807 1396 15971 30971)											1	Substitution - Nonsense(1)	kidney(1)											46	44	45					17																	40054059		2203	4300	6503	SO:0001587	stop_gained	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1372G>T	17.37:g.40054059C>A	ENSP00000253792:p.Glu458*		B4DIM0|B4E3P0|Q13037|Q9BRL0	Nonsense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	40	8.001964	0.98605	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	.	.	.	X	458;512;458;197;458	.	ENSP00000253792:E458X	E	-	1	0	ACLY	37307585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.881000	0.75584	2.595000	0.87683	0.655000	0.94253	GAG		0.567	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		A	40054059	C	A	40054059	4	1	220	1	0	0	0	0	0	1	0	0	143	835	29	4	2001	4	ACLY	17	40054059	Nonsense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	12828396	40054059	41141151	44	13323											
KCNH4	23415	broad.mit.edu	37	17	40315894	40315894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr17:40315894delC	ENST00000264661.3	-	13	2539	c.2207delG	c.(2206-2208)ggtfs	p.G737fs	KCNH4_ENST00000607371.1_Frame_Shift_Del_p.G737fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	737					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTGGGACCACCCCCAGGCTC	0.706																																					NSCLC(117;707 1703 2300 21308 31858)											0													7	9	8					17																	40315894		2090	4111	6201	SO:0001589	frameshift_variant	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2207delG	17.37:g.40315894delC	ENSP00000264661:p.Gly737fs			Frame_Shift_Del	DEL	ENST00000264661.3	37	CCDS11420.1																																																																																				0.706	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		-	40315894	C	-	40315894	7	5	220	1	0	1	0	1	0	0	0	0	8036	507	18	0	862	0	KCNH4	17	40315894	Frame_Shift_Del	DEL	C	TCGA-B0-5702-01A-11D-1534-10	261835	40315894	40879316	45	13324											
NBR1	4077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41345527	41345527	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr17:41345527C>A	ENST00000422280.1	+	12	1855	c.1396C>A	c.(1396-1398)Cag>Aag	p.Q466K	NBR1_ENST00000589872.1_Missense_Mutation_p.Q466K|NBR1_ENST00000341165.6_Missense_Mutation_p.Q466K|NBR1_ENST00000542611.1_Missense_Mutation_p.Q445K|NBR1_ENST00000389312.4_Missense_Mutation_p.Q466K|NBR1_ENST00000590996.1_Missense_Mutation_p.Q466K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	466					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.Q466K(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TCACAAAGGCCAGCAATTTGG	0.522																																																1	Substitution - Missense(1)	kidney(1)											69	67	67					17																	41345527		1906	4117	6023	SO:0001583	missense	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1396C>A	17.37:g.41345527C>A	ENSP00000411250:p.Gln466Lys		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924928	0.52759	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.43688	1.53;0.94;1.53;1.53	6.17	5.17	0.71159	.	0.109061	0.64402	D	0.000012	T	0.41166	0.1147	L	0.54323	1.7	0.34040	D	0.654856	B;B;B;B	0.28605	0.128;0.128;0.217;0.128	B;B;B;B	0.32465	0.146;0.146;0.138;0.146	T	0.46442	-0.9191	10	0.18710	T	0.47	-4.5933	16.3658	0.83321	0.0:0.6984:0.3016:0.0	.	466;445;466;466	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	K	466;445;466;466;466	ENSP00000411250:Q466K;ENSP00000437545:Q445K;ENSP00000343479:Q466K;ENSP00000373963:Q466K	ENSP00000343479:Q466K	Q	+	1	0	NBR1	38599053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.411000	0.44600	2.941000	0.99782	0.655000	0.94253	CAG		0.522	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		A	41345527	C	A	41345527	3	1	220	1	0	0	0	0	1	0	0	0	10202	595	21	4	1438	4	NBR1	17	41345527	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	1029633	41345527	39849683	46	13325											
LAMA3	3909	hgsc.bcm.edu	37	18	21441744	21441744	+	Silent	SNP	C	C	A	rs202215313	byFrequency	TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr18:21441744C>A	ENST00000313654.9	+	35	4798	c.4557C>A	c.(4555-4557)gtC>gtA	p.V1519V	LAMA3_ENST00000399516.3_Silent_p.V1519V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1519	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CGTCCTGGGTCGCACCCACCT	0.582																																																0													33	38	36					18																	21441744		2026	4185	6211	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4557C>A	18.37:g.21441744C>A			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.582	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21441744	C	A	21441744	2	1	220	1	0	0	0	0	0	0	0	1	8609	871	31	4		4	LAMA3	18	21441744	Silent	SNP	C	TCGA-B0-5702-01A-11D-1534-10		21441744	56635504	47	13326											
LAMA3	3909	broad.mit.edu;ucsc.edu	37	18	21508604	21508604	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr18:21508604T>C	ENST00000313654.9	+	64	8552	c.8311T>C	c.(8311-8313)Tca>Cca	p.S2771P	LAMA3_ENST00000399516.3_Missense_Mutation_p.S2715P|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.S1106P|LAMA3_ENST00000269217.6_Missense_Mutation_p.S1162P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2771	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.S2771P(1)|p.S1162P(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCGATCTGCCTCATTCTCCAG	0.438																																																2	Substitution - Missense(2)	kidney(2)											186	159	168					18																	21508604		2203	4300	6503	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8311T>C	18.37:g.21508604T>C	ENSP00000324532:p.Ser2771Pro		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294306	0.60086	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.19669	2.13;2.13;2.13	5.84	4.69	0.59074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.40570	0.1122	M	0.69823	2.125	0.33326	D	0.568006	D;D;D;D	0.76494	0.999;0.999;0.983;0.996	D;D;P;P	0.83275	0.994;0.996;0.68;0.849	T	0.55398	-0.8147	9	0.62326	D	0.03	.	5.3017	0.15781	0.1559:0.0826:0.0:0.7615	.	1106;1162;2715;2771	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	P	2771;2715;1162	ENSP00000324532:S2771P;ENSP00000382432:S2715P;ENSP00000269217:S1162P	ENSP00000269217:S1162P	S	+	1	0	LAMA3	19762602	1.000000	0.71417	0.977000	0.42913	0.855000	0.48748	1.922000	0.40045	1.050000	0.40346	0.533000	0.62120	TCA		0.438	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		C	21508604	T	C	21508604	3	2	220	1	0	0	0	0	1	0	0	0	8609	1551	54	3	8740	3	LAMA3	18	21508604	Missense_Mutation	SNP	T	TCGA-B0-5702-01A-11D-1534-10	66860	21508604	56568644	48	13327											
DPP9	91039	hgsc.bcm.edu	37	19	4703896	4703916	+	Splice_Site	DEL	ACCTTGGTGGCAGAAGGTCAG	ACCTTGGTGGCAGAAGGTCAG	-	rs79643531		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	ACCTTGGTGGCAGAAGGTCAG	ACCTTGGTGGCAGAAGGTCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr19:4703896_4703916delACCTTGGTGGCAGAAGGTCAG	ENST00000598800.1	-	8	1169_1188	c.664_683delCTGACCTTCTGCCACCAAGGT	c.(664-684)ctgaccttctgccaccaaggt>t	p.LTFCHQG222del	DPP9_ENST00000262960.9_Splice_Site_p.LTFCHQG251del|DPP9_ENST00000594671.1_Splice_Site_p.LTFCHQG222del|DPP9_ENST00000597849.1_Splice_Site_p.LTFCHQG251del			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	222						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGCTGGCCCCACCTTGGTGGCAGAAGGTCAGCCGCCGCTCC	0.633																																																0																																										SO:0001630	splice_region_variant	91039			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.682+1CTGACCTTCTGCCACCAAGGT>-	19.37:g.4703896_4703916delACCTTGGTGGCAGAAGGTCAG			O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	In_Frame_Del	DEL	ENST00000598800.1	37																																																																																					0.633	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2		In_Frame_Del	-	4703916	ACCTTGGTGGCAGAAGGTCAG	-	4703896	8	5	220	1	0	1	0	1	0	0	1	0	4735	173	6	0	1971	0	DPP9	19	4703896	Splice_Site	DEL	ACCTTGGTGGCAGAAGGTCAG	TCGA-B0-5702-01A-11D-1534-10		4703896	54425087	49	13328											
SMARCA4	6597	broad.mit.edu	37	19	11132522	11132522	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr19:11132522C>A	ENST00000429416.3	+	20	3019	c.2738C>A	c.(2737-2739)cCg>cAg	p.P913Q	SMARCA4_ENST00000450717.3_Missense_Mutation_p.P913Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P913Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P913Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P913Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P913Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P913Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P913Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P913Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	913	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P913Q(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACGGGCACACCGCTGCAGAAC	0.612			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	3	Substitution - Missense(2)|Unknown(1)	kidney(2)|lung(1)											90	69	76					19																	11132522		2202	4300	6502	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2738C>A	19.37:g.11132522C>A	ENSP00000395654:p.Pro913Gln		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341337	0.41498	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.51	3.48	0.39840	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.99815	4.805	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.997;1.0;0.999;0.999	D	0.96538	0.9398	10	0.87932	D	0	-34.2807	11.4789	0.50314	0.0:0.9105:0.0:0.0895	.	913;913;913;913;913;133;913;913	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	Q	913;913;977;913;913;913;913;913	ENSP00000395654:P913Q;ENSP00000350720:P913Q;ENSP00000343896:P913Q;ENSP00000445036:P913Q;ENSP00000392837:P913Q;ENSP00000397783:P913Q;ENSP00000414727:P913Q	ENSP00000343896:P913Q	P	+	2	0	SMARCA4	10993522	1.000000	0.71417	0.035000	0.18076	0.001000	0.01503	7.651000	0.83577	1.133000	0.42147	-0.136000	0.14681	CCG		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		A	11132522	C	A	11132522	3	1	220	1	0	0	0	0	1	0	0	0	14776	652	23	4	2808	4	SMARCA4	19	11132522	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	6428626	11132522	47996461	50	13329											
PRKCSH	5589	broad.mit.edu	37	19	11558317	11558317	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr19:11558317C>T	ENST00000589838.1	+	10	913	c.913C>T	c.(913-915)Ccg>Tcg	p.P305S	PRKCSH_ENST00000252455.2_Missense_Mutation_p.P305S|PRKCSH_ENST00000591462.1_Missense_Mutation_p.P305S|PRKCSH_ENST00000412601.1_Missense_Mutation_p.P305S|PRKCSH_ENST00000592741.1_Missense_Mutation_p.P305S|PRKCSH_ENST00000587327.1_Missense_Mutation_p.P305S			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	305					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.P305S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						GGAGGAGCAGCCGCCAGTGCC	0.642																																																1	Substitution - Missense(1)	kidney(1)											34	34	34					19																	11558317		2202	4299	6501	SO:0001583	missense	5589				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.913C>T	19.37:g.11558317C>T	ENSP00000465461:p.Pro305Ser		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513767	0.27123	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.71461	-0.57;-0.57	3.67	3.67	0.42095	.	1.062090	0.07455	N	0.899715	T	0.70518	0.3233	M	0.70275	2.135	0.21386	N	0.99971	B;B;B	0.33583	0.418;0.028;0.049	B;B;B	0.32864	0.154;0.01;0.026	T	0.59637	-0.7417	10	0.27082	T	0.32	-8.9098	13.6723	0.62432	0.0:1.0:0.0:0.0	.	305;305;305	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	S	305	ENSP00000252455:P305S;ENSP00000395616:P305S	ENSP00000252455:P305S	P	+	1	0	PRKCSH	11419317	0.002000	0.14202	0.096000	0.21009	0.126000	0.20510	0.430000	0.21428	2.353000	0.79882	0.491000	0.48974	CCG		0.642	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			T	11558317	C	T	11558317	3	4	220	1	0	0	0	0	1	0	0	0	12521	739	26	2	951	2	PRKCSH	19	11558317	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	425795	11558317	47570666	51	13330											
PLA2G4C	8605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	48608631	48608631	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr19:48608631C>A	ENST00000599921.1	-	3	436	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.V37L|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.V27L|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.V27L			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	27	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.V27L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GCTTTCAGCACATGAAGTCTT	0.527																																																1	Substitution - Missense(1)	kidney(1)											120	129	126					19																	48608631		2203	4300	6503	SO:0001583	missense	8605			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.79G>T	19.37:g.48608631C>A	ENSP00000469473:p.Val27Leu		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625302	0.46840	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.06294	3.32;3.32	2.72	2.72	0.32119	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.125117	0.29515	N	0.011931	T	0.18759	0.0450	M	0.81112	2.525	0.09310	N	1	D;D;D	0.59767	0.986;0.968;0.968	P;P;P	0.59288	0.855;0.542;0.779	T	0.01583	-1.1319	10	0.72032	D	0.01	-21.3757	8.9966	0.36057	0.0:1.0:0.0:0.0	.	37;27;27	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	L	27	ENSP00000346228:V27L;ENSP00000400036:V27L	ENSP00000346228:V27L	V	-	1	0	PLA2G4C	53300443	0.144000	0.22641	0.017000	0.16124	0.059000	0.15707	2.164000	0.42387	1.521000	0.48983	0.205000	0.17691	GTG		0.527	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			A	48608631	C	A	48608631	3	1	220	1	0	0	0	0	1	0	0	0	12005	478	17	4	1610	4	PLA2G4C	19	48608631	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	37050314	48608631	10520352	52	13331											
C20orf186	149954	broad.mit.edu;ucsc.edu	37	20	31671267	31671267	+	Silent	SNP	T	T	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr20:31671267T>C	ENST00000375483.3	+	3	264	c.264T>C	c.(262-264)ggT>ggC	p.G88G		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	88						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.G49G(1)									ACCAGTATGGTCACATTGAGA	0.507																																																1	Substitution - coding silent(1)	kidney(1)											94	85	88					20																	31671267		2203	4300	6503	SO:0001819	synonymous_variant	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.264T>C	20.37:g.31671267T>C			Q5TDX6	Silent	SNP	ENST00000375483.3	37	CCDS13213.2																																																																																				0.507	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		C	31671267	T	C	31671267	2	2	220	1	0	0	0	0	0	0	0	1	2100	1654	58	3		3	C20orf186	20	31671267	Silent	SNP	T	TCGA-B0-5702-01A-11D-1534-10		31671267	31354253	53	13332											
PARD6B	84612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	49366295	49366295	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr20:49366295A>G	ENST00000371610.2	+	3	632	c.389A>G	c.(388-390)cAt>cGt	p.H130R	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	130	Interaction with PARD3 and CDC42. {ECO:0000250}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.H130R(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AAAAAGCCACATATAGTCATT	0.403																																																1	Substitution - Missense(1)	kidney(1)											76	74	75					20																	49366295		2203	4300	6503	SO:0001583	missense	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.389A>G	20.37:g.49366295A>G	ENSP00000360672:p.His130Arg		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597328	0.28445	.	.	ENSG00000124171	ENST00000371610	T	0.41400	1.0	5.6	5.6	0.85130	.	0.151580	0.64402	D	0.000014	T	0.36991	0.0987	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.11421	-1.0588	10	0.25106	T	0.35	-32.4385	15.7847	0.78294	1.0:0.0:0.0:0.0	.	130	Q9BYG5	PAR6B_HUMAN	R	130	ENSP00000360672:H130R	ENSP00000360672:H130R	H	+	2	0	PARD6B	48799702	0.992000	0.36948	0.650000	0.29550	0.857000	0.48899	3.467000	0.53078	2.135000	0.66039	0.533000	0.62120	CAT		0.403	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		G	49366295	A	G	49366295	3	3	220	1	0	0	0	0	1	0	0	0	11448	217	8	3	399	3	PARD6B	20	49366295	Missense_Mutation	SNP	A	TCGA-B0-5702-01A-11D-1534-10	17695028	49366295	13659225	54	13333											
CABIN1	23523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24432627	24432627	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr22:24432627C>G	ENST00000398319.2	+	3	479	c.94C>G	c.(94-96)Cag>Gag	p.Q32E	CABIN1_ENST00000405822.2_Missense_Mutation_p.Q32E|CABIN1_ENST00000263119.5_Missense_Mutation_p.Q32E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	32					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.Q32E(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAGGAGGCTCAGGTACGTAA	0.433																																																1	Substitution - Missense(1)	kidney(1)											162	153	156					22																	24432627		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.94C>G	22.37:g.24432627C>G	ENSP00000381364:p.Gln32Glu		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240998	0.79912	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.66815	0.22;-0.15;-0.23;0.22;-0.15	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	L	0.32530	0.975	0.80722	D	1	D;D;B;B	0.69078	0.98;0.997;0.322;0.335	P;P;P;B	0.61800	0.717;0.894;0.551;0.349	T	0.70781	-0.4779	10	0.37606	T	0.19	.	17.3055	0.87194	0.0:1.0:0.0:0.0	.	32;32;32;32	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	E	32	ENSP00000394209:Q32E;ENSP00000263119:Q32E;ENSP00000384694:Q32E;ENSP00000412389:Q32E;ENSP00000381364:Q32E	ENSP00000263119:Q32E	Q	+	1	0	CABIN1	22762627	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.293000	0.78740	2.416000	0.81992	0.558000	0.71614	CAG		0.433	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		G	24432627	C	G	24432627	3	3	220	1	0	0	0	0	1	0	0	0	2530	827	29	4	100	4	CABIN1	22	24432627	Missense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10		24432627	26871939	55	13334											
XPNPEP3	63929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	41310325	41310325	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr22:41310325G>A	ENST00000357137.4	+	7	1136	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	snoU13_ENST00000459164.1_RNA|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.G328D	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	351					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.G351D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CCAGTCAATGGCAGGTAGGGC	0.443																																					Ovarian(145;306 1841 7037 21878 30110)											1	Substitution - Missense(1)	kidney(1)											160	125	137					22																	41310325		2203	4300	6503	SO:0001583	missense	63929				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1052G>A	22.37:g.41310325G>A	ENSP00000349658:p.Gly351Asp		B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319353	0.95682	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	D;D	0.85088	-1.94;-1.94	5.67	5.67	0.87782	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95801	0.8833	10	0.87932	D	0	-20.7396	19.7658	0.96340	0.0:0.0:1.0:0.0	.	351	Q9NQH7	XPP3_HUMAN	D	351;328	ENSP00000349658:G351D;ENSP00000441942:G328D	ENSP00000349658:G351D	G	+	2	0	XPNPEP3	39640271	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	9.324000	0.96373	2.661000	0.90470	0.555000	0.69702	GGC		0.443	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		A	41310325	G	A	41310325	3	1	220	1	0	0	0	0	1	0	0	0	17449	1203	42	2	1078	2	XPNPEP3	22	41310325	Missense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10	16877698	41310325	9994241	56	13335											
MOV10L1	54456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50558941	50558941	+	Nonsense_Mutation	SNP	C	C	T	rs150693045		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr22:50558941C>T	ENST00000262794.5	+	10	1548	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	MOV10L1_ENST00000395858.3_Nonsense_Mutation_p.R489*|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.R489*|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.R469*|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	489					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.R469*(1)|p.R489*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAACTCAAGACGACAACTTCC	0.348													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21800	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Nonsense(2)	kidney(2)											94	96	95					22																	50558941		2203	4300	6503	SO:0001587	stop_gained	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1465C>T	22.37:g.50558941C>T	ENSP00000262794:p.Arg489*		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Nonsense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	40	8.310930	0.98754	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	.	.	.	5.68	3.48	0.39840	.	0.052015	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1837	11.5193	0.50541	0.5464:0.4535:0.0:0.0	.	.	.	.	X	489;489;489;469	.	ENSP00000262794:R489X	R	+	1	2	MOV10L1	48901068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.867000	0.39499	1.372000	0.46190	0.650000	0.86243	CGA		0.348	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		T	50558941	C	T	50558941	4	4	220	1	0	0	0	0	0	1	0	0	9721	528	19	1	1544	1	MOV10L1	22	50558941	Nonsense_Mutation	SNP	C	TCGA-B0-5702-01A-11D-1534-10	9248616	50558941	745625	57	13336											
P2RY8	286530	hgsc.bcm.edu;ucsc.edu	37	X	1585213	1585213	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:1585213A>G	ENST00000381297.4	-	2	449	c.239T>C	c.(238-240)aTc>aCc	p.I80T	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGGTAGTAGATTTGGAAAGG	0.572			T	CRLF2	"B-ALL, Downs associated ALL"																																		Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	0													141	128	133					X																	1585213		2202	4296	6498	SO:0001583	missense	286530			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.239T>C	X.37:g.1585213A>G	ENSP00000370697:p.Ile80Thr			Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	a	11.61	1.689169	0.29962	.	.	ENSG00000182162	ENST00000381297	T	0.36340	1.26	2.1	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.071983	0.53938	U	0.000056	T	0.56615	0.1997	M	0.80332	2.49	0.09310	N	0.999994	D	0.76494	0.999	D	0.70935	0.971	T	0.48833	-0.9000	10	0.87932	D	0	.	9.6627	0.39965	1.0:0.0:0.0:0.0	.	80	Q86VZ1	P2RY8_HUMAN	T	80	ENSP00000370697:I80T	ENSP00000370697:I80T	I	-	2	0	P2RY8	1545213	1.000000	0.71417	0.659000	0.29680	0.021000	0.10359	7.120000	0.77153	0.528000	0.28580	0.230000	0.17803	ATC		0.572	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		G	1585213	A	G	1585213	3	3	220	1	0	0	0	0	1	0	0	0	11357	333	12	3	844	3	P2RY8	23	1585213	Missense_Mutation	SNP	A	TCGA-B0-5702-01A-11D-1534-10		1585213	153685347	58	13337											
FRMPD4	9758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	12734955	12734955	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:12734955G>A	ENST00000380682.1	+	15	2883	c.2377G>A	c.(2377-2379)Gac>Aac	p.D793N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	793					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D783N(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGAAGGTGATGACAATGAGGA	0.557																																																1	Substitution - Missense(1)	kidney(1)											210	158	175					X																	12734955		2203	4300	6503	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2377G>A	X.37:g.12734955G>A	ENSP00000370057:p.Asp793Asn		A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178071	0.78564	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.32515	1.45	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.73598	2.24	0.44966	D	0.997988	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.62618	-0.6816	10	0.87932	D	0	.	18.2456	0.89984	0.0:0.0:1.0:0.0	.	785;793	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	N	793;784;782	ENSP00000370057:D793N	ENSP00000304583:D782N	D	+	1	0	FRMPD4	12644876	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.339000	0.79282	2.334000	0.79466	0.600000	0.82982	GAC		0.557	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		A	12734955	G	A	12734955	3	1	220	1	0	0	0	0	1	0	0	0	6061	1290	45	2	2435	2	FRMPD4	23	12734955	Missense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10	11149742	12734955	142535605	59	13338											
MAP7D2	256714	broad.mit.edu	37	X	20074911	20074911	+	Splice_Site	SNP	T	T	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:20074911T>C	ENST00000379651.3	-	4	391		c.e4-2		MAP7D2_ENST00000543767.1_5'Flank|MAP7D2_ENST00000443379.3_Splice_Site|MAP7D2_ENST00000452324.3_Splice_Site|MAP7D2_ENST00000379643.5_Splice_Site	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2						microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CAGCCGTTCCTACACAGTTCG	0.557																																																2	Unknown(2)	kidney(2)											61	47	52					X																	20074911		2203	4300	6503	SO:0001630	splice_region_variant	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.373-2A>G	X.37:g.20074911T>C			B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Splice_Site	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.697200	0.30142	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000443379;ENST00000452324;ENST00000330274	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2642	0.66104	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP7D2	19984832	1.000000	0.71417	0.980000	0.43619	0.190000	0.23558	6.664000	0.74437	1.815000	0.52974	0.412000	0.27726	.		0.557	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780	Intron	C	20074911	T	C	20074911	5	2	220	1	0	0	0	0	0	0	1	0	9270	1536	53	3	2002	3	MAP7D2	23	20074911	Splice_Site	SNP	T	TCGA-B0-5702-01A-11D-1534-10	7339956	20074911	135195649	60	13339											
SLC9A7	84679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	46522060	46522060	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:46522060A>C	ENST00000328306.4	-	6	837	c.812T>G	c.(811-813)tTt>tGt	p.F271C		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	271					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.F271C(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CAATTCATTAAATATCGCCAG	0.413																																					Pancreas(118;454 1696 1930 13865 39976)											1	Substitution - Missense(1)	kidney(1)											93	71	79					X																	46522060		2203	4300	6503	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.812T>G	X.37:g.46522060A>C	ENSP00000330320:p.Phe271Cys		O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226208	0.79576	.	.	ENSG00000065923	ENST00000328306	T	0.18338	2.22	5.09	5.09	0.68999	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71080	-0.4696	10	0.87932	D	0	.	14.1858	0.65605	1.0:0.0:0.0:0.0	.	42;271	B3KPP8;Q96T83	.;SL9A7_HUMAN	C	271	ENSP00000330320:F271C	ENSP00000330320:F271C	F	-	2	0	SLC9A7	46407004	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.785000	0.91822	1.797000	0.52628	0.486000	0.48141	TTT		0.413	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		C	46522060	A	C	46522060	3	2	220	1	0	0	0	0	1	0	0	0	14725	14	1	5	1413	5	SLC9A7	23	46522060	Missense_Mutation	SNP	A	TCGA-B0-5702-01A-11D-1534-10	26447149	46522060	108748500	61	13340											
ACRC	93953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	70824235	70824235	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:70824235G>A	ENST00000373695.1	+	7	1645	c.1108G>A	c.(1108-1110)Gct>Act	p.A370T	ACRC_ENST00000373696.3_Missense_Mutation_p.A370T			Q96QF7	ACRC_HUMAN	acidic repeat containing	370						nucleus (GO:0005634)		p.A370T(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ATCTGATGATGCTGGTGAGCA	0.493																																																1	Substitution - Missense(1)	kidney(1)											67	52	57					X																	70824235		2203	4300	6503	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1108G>A	X.37:g.70824235G>A	ENSP00000362799:p.Ala370Thr		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638095	0.29157	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32515	1.45;1.45	3.42	-0.56	0.11789	.	.	.	.	.	T	0.16599	0.0399	L	0.27053	0.805	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.21827	-1.0234	9	0.33940	T	0.23	.	3.3832	0.07262	0.3893:0.2027:0.408:0.0	.	370	Q96QF7	ACRC_HUMAN	T	370	ENSP00000362800:A370T;ENSP00000362799:A370T	ENSP00000362799:A370T	A	+	1	0	ACRC	70740960	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.511000	0.22739	-0.261000	0.09405	-0.191000	0.12829	GCT		0.493	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			A	70824235	G	A	70824235	3	1	220	1	0	0	0	0	1	0	0	0	171	1319	46	2	1134	2	ACRC	23	70824235	Missense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10	24302175	70824235	84446325	62	13341											
TCEAL3	85012	broad.mit.edu;hgsc.bcm.edu	37	X	102864047	102864047	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:102864047G>C	ENST00000372628.1	+	3	413	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	TCEAL3_ENST00000372627.5_Missense_Mutation_p.E19Q|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.E19Q			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	19	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E19Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						gggaaagccagaagatgaagt	0.488																																																1	Substitution - Missense(1)	kidney(1)											96	82	87					X																	102864047		2203	4297	6500	SO:0001583	missense	85012			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.55G>C	X.37:g.102864047G>C	ENSP00000361711:p.Glu19Gln		D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	7.536	0.659697	0.14645	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.15017	2.46;2.46;2.46	3.76	0.969	0.19686	.	0.415580	0.17807	N	0.161351	T	0.11623	0.0283	L	0.37750	1.13	0.09310	N	1	B	0.21225	0.053	B	0.20384	0.029	T	0.22034	-1.0228	10	0.59425	D	0.04	.	4.4616	0.11669	0.1741:0.1999:0.626:0.0	.	19	Q969E4	TCAL3_HUMAN	Q	19	ENSP00000361711:E19Q;ENSP00000361710:E19Q;ENSP00000243286:E19Q	ENSP00000243286:E19Q	E	+	1	0	TCEAL3	102750703	0.999000	0.42202	0.079000	0.20413	0.311000	0.27955	1.340000	0.33896	0.080000	0.16959	0.538000	0.68166	GAA		0.488	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		C	102864047	G	C	102864047	3	2	220	1	0	0	0	0	1	0	0	0	15677	943	33	4	57	4	TCEAL3	23	102864047	Missense_Mutation	SNP	G	TCGA-B0-5702-01A-11D-1534-10	32039812	102864047	52406513	63	13342											
MORC4	79710	hgsc.bcm.edu;ucsc.edu	37	X	106236587	106236588	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:106236587_106236588insA	ENST00000355610.4	-	3	454_455	c.180_181insT	c.(178-183)aatgctfs	p.A61fs	MORC4_ENST00000255495.7_Frame_Shift_Ins_p.A61fs|MORC4_ENST00000535534.1_5'UTR	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	61						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGATCTACAGCATTATCTGCAA	0.391																																																0																																										SO:0001589	frameshift_variant	79710			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.181dupT	X.37:g.106236588_106236588dupA	ENSP00000347821:p.Ala61fs		A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Frame_Shift_Ins	INS	ENST00000355610.4	37	CCDS14525.2																																																																																				0.391	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		A	106236588	-	A	106236587	7	5	220	1	0	1	1	0	0	0	0	0	9706	710	25	0	2692	0	MORC4	23	106236587	Frame_Shift_Ins	INS	-	TCGA-B0-5702-01A-11D-1534-10	3372540	106236587	49033973	64	13343											
MAGEC1	9947	hgsc.bcm.edu	37	X	140993904	140993906	+	In_Frame_Del	DEL	CCC	CCC	-	rs146816736|rs176040	byFrequency	TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:140993904_140993906delCCC	ENST00000285879.4	+	4	1000_1002	c.714_716delCCC	c.(712-717)agcccc>agc	p.P239del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	239				P -> S (in Ref. 1 and 2). {ECO:0000305}.				p.P239S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCCCCTCCTCCTCC	0.478										HNSCC(15;0.026)																																						2	Substitution - Missense(2)	stomach(2)																																								SO:0001651	inframe_deletion	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.714_716delCCC	X.37:g.140993904_140993906delCCC	ENSP00000285879:p.Pro239del		A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	CCDS35417.1																																																																																				0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		-	140993906	CCC	-	140993904	7	5	220	1	0	1	0	1	0	0	0	0	9182	738	26	0	720	0	MAGEC1	23	140993904	In_Frame_Del	DEL	CCC	TCGA-B0-5702-01A-11D-1534-10	34757317	140993904	14276656	65	13344											
KIAA1751	85452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1888064	1888064	+	IGR	SNP	T	T	G			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr1:1888064T>G								TMEM52 (37352 upstream) : C1orf222 (31498 downstream)														p.K671Q(1)									CTCACTAATTTCAGGGCAGAC	0.572																																																1	Substitution - Missense(1)	kidney(1)											55	60	58					1																	1888064		2080	4230	6310	SO:0001628	intergenic_variant	85452																															1.37:g.1888064T>G				Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	T	14.61	2.587086	0.46110	.	.	ENSG00000142609	ENST00000270720;ENST00000461752	.	.	.	4.34	4.34	0.51931	.	1.157120	0.06411	N	0.720613	T	0.71879	0.3392	M	0.65975	2.015	0.34855	D	0.74205	D;D	0.67145	0.996;0.993	D;P	0.63793	0.918;0.857	T	0.63409	-0.6644	9	0.27785	T	0.31	-3.3053	10.2207	0.43194	0.0:0.0:0.0:1.0	.	671;671	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	Q	671;118	.	ENSP00000270720:K671Q	K	-	1	0	C1orf222	1877924	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	1.340000	0.33896	1.746000	0.51805	0.533000	0.62120	AAA	0	0.572									G	1888064	T	G	1888064	1	3	221	0	1	0	0	0	0	0	0	0	8258	1792	62	5		5	KIAA1751	1	1888064	IGR	SNP	T	TCGA-B0-5703-01A-11D-1534-10		1888064	247362557	1	13345											
CAPZA1	829	broad.mit.edu;ucsc.edu	37	1	113192053	113192053	+	Silent	SNP	A	A	T	rs371130747		TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr1:113192053A>T	ENST00000263168.3	+	3	789	c.117A>T	c.(115-117)ctA>ctT	p.L39L	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	39					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)	p.L39L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCGGCTACTACTTAATAATG	0.358																																																1	Substitution - coding silent(1)	kidney(1)											112	107	109					1																	113192053		2203	4300	6503	SO:0001819	synonymous_variant	829			U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.117A>T	1.37:g.113192053A>T			Q53FQ6|Q6FHD5	Silent	SNP	ENST00000263168.3	37	CCDS30805.1																																																																																				0.358	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		T	113192053	A	T	113192053	2	4	221	1	0	0	0	0	0	0	0	1	2642	378	14	5		5	CAPZA1	1	113192053	Silent	SNP	A	TCGA-B0-5703-01A-11D-1534-10	111303989	113192053	136058568	2	13346											
SPAG17	200162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	118584465	118584465	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr1:118584465delT	ENST00000336338.5	-	21	3080	c.3015delA	c.(3013-3015)gaafs	p.E1006fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1006						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGGGGGACTCTTCTGTTACTT	0.383																																																0													331	329	330					1																	118584465		2203	4300	6503	SO:0001589	frameshift_variant	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3015delA	1.37:g.118584465delT	ENSP00000337804:p.Glu1006fs		Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	CCDS899.1																																																																																				0.383	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		-	118584465	T	-	118584465	7	5	221	1	0	1	0	1	0	0	0	0	14985	1606	56	0	3768	0	SPAG17	1	118584465	Frame_Shift_Del	DEL	T	TCGA-B0-5703-01A-11D-1534-10	5392412	118584465	130666156	3	13347											
TCHH	7062	broad.mit.edu;ucsc.edu	37	1	152083904	152083904	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr1:152083904T>C	ENST00000368804.1	-	2	1788	c.1789A>G	c.(1789-1791)Agg>Ggg	p.R597G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	597	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R597G(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCGAGCCTCTCTTCCTGC	0.682																																																1	Substitution - Missense(1)	kidney(1)											42	48	46					1																	152083904		1964	4133	6097	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1789A>G	1.37:g.152083904T>C	ENSP00000357794:p.Arg597Gly		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	t	6.852	0.526490	0.13066	.	.	ENSG00000159450	ENST00000368804	T	0.05258	3.47	2.39	-4.77	0.03219	.	.	.	.	.	T	0.00998	0.0033	N	0.24115	0.695	0.09310	N	1	B	0.29212	0.237	B	0.28305	0.088	T	0.47548	-0.9109	9	0.23302	T	0.38	.	4.7817	0.13206	0.0:0.2627:0.3912:0.3461	.	597	Q07283	TRHY_HUMAN	G	597	ENSP00000357794:R597G	ENSP00000357794:R597G	R	-	1	2	TCHH	150350528	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-2.154000	0.01285	-0.609000	0.05724	0.157000	0.16456	AGG		0.682	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		C	152083904	T	C	152083904	3	2	221	1	0	0	0	0	1	0	0	0	15705	1550	54	3	4046	3	TCHH	1	152083904	Missense_Mutation	SNP	T	TCGA-B0-5703-01A-11D-1534-10	33499439	152083904	97166717	4	13348											
IVL	3713	hgsc.bcm.edu;ucsc.edu	37	1	152882534	152882545	+	In_Frame_Del	DEL	GCAGCAACAGCA	GCAGCAACAGCA	-	rs149812110|rs201279635|rs386635518	byFrequency	TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	GCAGCAACAGCA	GCAGCAACAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr1:152882534_152882545delGCAGCAACAGCA	ENST00000368764.3	+	2	325_336	c.261_272delGCAGCAACAGCA	c.(259-273)ctgcagcaacagcac>ctc	p.QQQH88del	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	88					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcaggagctgcagcaacagcactgggaacag	0.495																																																0																																										SO:0001651	inframe_deletion	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.261_272delGCAGCAACAGCA	1.37:g.152882534_152882545delGCAGCAACAGCA	ENSP00000357753:p.Gln88_His91del		Q5T7P4	In_Frame_Del	DEL	ENST00000368764.3	37	CCDS1030.1																																																																																				0.495	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		-	152882545	GCAGCAACAGCA	-	152882534	7	5	221	1	0	1	0	1	0	0	0	0	7931	1306	46	0	263	0	IVL	1	152882534	In_Frame_Del	DEL	GCAGCAACAGCA	TCGA-B0-5703-01A-11D-1534-10	798630	152882534	96368087	5	13349			1	21		2	2	13	N	GCAGCAACAGCA_-	2.946004e-05
IVL	3713	hgsc.bcm.edu;ucsc.edu	37	1	152882546	152882547	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr1:152882546_152882547insT	ENST00000368764.3	+	2	337_338	c.273_274insT	c.(274-276)tggfs	p.W92fs	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	92					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcaacagcactgggaacagca	0.495																																																0																																										SO:0001589	frameshift_variant	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.274dupT	1.37:g.152882547_152882547dupT	ENSP00000357753:p.Trp92fs		Q5T7P4	Frame_Shift_Ins	INS	ENST00000368764.3	37	CCDS1030.1																																																																																				0.495	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		T	152882547	-	T	152882546	7	5	221	1	0	1	1	0	0	0	0	0	7931	564	20	0	275	0	IVL	1	152882546	Frame_Shift_Ins	INS	-	TCGA-B0-5703-01A-11D-1534-10	12	152882546	96368075	6	13350			1	21		2	2	13	N	GCAGCAACAGCA_-	2.946004e-05
F5	2153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169528479	169528479	+	Silent	SNP	T	T	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr1:169528479T>C	ENST00000367797.3	-	5	843	c.642A>G	c.(640-642)ctA>ctG	p.L214L	F5_ENST00000546081.1_Silent_p.L77L|F5_ENST00000367796.3_Silent_p.L214L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	214	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.L214L(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ACACAGCAAATAGTAGCACGA	0.453																																																1	Substitution - coding silent(1)	kidney(1)											175	133	147					1																	169528479		2203	4300	6503	SO:0001819	synonymous_variant	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.642A>G	1.37:g.169528479T>C			A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																				0.453	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169528479	T	C	169528479	2	2	221	1	0	0	0	0	0	0	0	1	5350	1393	49	3		3	F5	1	169528479	Silent	SNP	T	TCGA-B0-5703-01A-11D-1534-10	16645933	169528479	79722142	7	13351											
CRB1	23418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197404477	197404477	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr1:197404477C>A	ENST00000367400.3	+	9	3619	c.3484C>A	c.(3484-3486)Cat>Aat	p.H1162N	RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.H1050N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.H1138N|CRB1_ENST00000544212.1_Missense_Mutation_p.H643N|CRB1_ENST00000367397.1_Missense_Mutation_p.H543N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1162	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H1162N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAGCTCTTATCATTGCTCCTG	0.463																																																1	Substitution - Missense(1)	kidney(1)											126	101	109					1																	197404477		2203	4300	6503	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3484C>A	1.37:g.197404477C>A	ENSP00000356370:p.His1162Asn		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	9.852	1.193993	0.22037	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.22;-2.22	5.7	3.65	0.41850	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.84129	0.5404	N	0.20574	0.59	0.09310	N	1	P;P;B;P	0.41848	0.646;0.763;0.114;0.485	B;B;B;B	0.37550	0.213;0.21;0.032;0.253	T	0.73199	-0.4058	9	0.23891	T	0.37	.	11.7122	0.51630	0.2258:0.6503:0.1239:0.0	.	1138;1050;811;1162	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	N	1138;1162;1050;643;543;811	ENSP00000438786:H1138N;ENSP00000356370:H1162N;ENSP00000356369:H1050N;ENSP00000444556:H643N;ENSP00000356367:H543N	ENSP00000356367:H543N	H	+	1	0	CRB1	195671100	0.011000	0.17503	0.229000	0.23960	0.258000	0.26162	0.984000	0.29565	1.353000	0.45828	0.650000	0.86243	CAT		0.463	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		A	197404477	C	A	197404477	3	1	221	1	0	0	0	0	1	0	0	0	3850	826	29	4	3518	4	CRB1	1	197404477	Missense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10	27875998	197404477	51846144	8	13352											
RGS7	6000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	240969479	240969479	+	Silent	SNP	G	G	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr1:240969479G>A	ENST00000407727.1	-	14	1229	c.1230C>T	c.(1228-1230)aaC>aaT	p.N410N	RGS7_ENST00000366564.1_Silent_p.N410N|RGS7_ENST00000331110.7_Silent_p.N384N|RGS7_ENST00000446183.2_Silent_p.N326N|RGS7_ENST00000366565.1_Silent_p.N410N|RGS7_ENST00000348120.2_Silent_p.N357N|RGS7_ENST00000401882.1_Silent_p.N357N|RGS7_ENST00000366562.4_Silent_p.N410N|RGS7_ENST00000366563.1_Silent_p.N410N			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	410	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.N410N(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTTCCTTCACGTTCTGTGTGG	0.483																																																2	Substitution - coding silent(2)	kidney(2)											206	175	185					1																	240969479		2203	4300	6503	SO:0001819	synonymous_variant	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1230C>T	1.37:g.240969479G>A			Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37																																																																																					0.483	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		A	240969479	G	A	240969479	2	1	221	1	0	0	0	0	0	0	0	1	13316	1136	40	1		1	RGS7	1	240969479	Silent	SNP	G	TCGA-B0-5703-01A-11D-1534-10	43565002	240969479	8281142	9	13353											
ASAP2	8853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	9484692	9484692	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr2:9484692G>A	ENST00000281419.3	+	10	1221	c.881G>A	c.(880-882)aGc>aAc	p.S294N	ASAP2_ENST00000315273.4_Missense_Mutation_p.S294N	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	294					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.S294N(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACAGCTTATAGCTTACATCAG	0.458																																																2	Substitution - Missense(2)	kidney(1)|skin(1)											101	95	97					2																	9484692		2203	4300	6503	SO:0001583	missense	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.881G>A	2.37:g.9484692G>A	ENSP00000281419:p.Ser294Asn		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095415	0.94197	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.59772	0.25;0.24	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	L	0.58302	1.8	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	T	0.72551	-0.4259	10	0.45353	T	0.12	.	19.408	0.94656	0.0:0.0:1.0:0.0	.	294;294	O43150-2;O43150	.;ASAP2_HUMAN	N	294	ENSP00000281419:S294N;ENSP00000316404:S294N	ENSP00000281419:S294N	S	+	2	0	ASAP2	9402143	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	6.727000	0.74764	2.643000	0.89663	0.650000	0.86243	AGC		0.458	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		A	9484692	G	A	9484692	3	1	221	1	0	0	0	0	1	0	0	0	1011	971	34	2	919	2	ASAP2	2	9484692	Missense_Mutation	SNP	G	TCGA-B0-5703-01A-11D-1534-10		9484692	233714681	10	13354											
PCYOX1	51449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	70502693	70502693	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr2:70502693G>T	ENST00000433351.2	+	5	782	c.754G>T	c.(754-756)Ggt>Tgt	p.G252C	PCYOX1_ENST00000505044.2_Missense_Mutation_p.G175C|PCYOX1_ENST00000264441.5_Missense_Mutation_p.G252C|PCYOX1_ENST00000545138.1_Missense_Mutation_p.G174C	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	252					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)	p.G252C(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GGCAGTAGAAGGTGGCAATAA	0.433																																																1	Substitution - Missense(1)	kidney(1)											127	112	117					2																	70502693		2203	4300	6503	SO:0001583	missense	51449			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.754G>T	2.37:g.70502693G>T	ENSP00000387654:p.Gly252Cys		B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890593	0.91889	.	.	ENSG00000116005	ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000545138	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.43	5.43	0.79202	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77579	-0.2535	10	0.87932	D	0	-16.2952	17.9695	0.89108	0.0:0.0:1.0:0.0	.	234;252	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	C	175;175;252;252;174	ENSP00000441566:G175C;ENSP00000413178:G175C;ENSP00000387654:G252C;ENSP00000264441:G252C;ENSP00000439916:G174C	ENSP00000264441:G252C	G	+	1	0	PCYOX1	70356197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.174000	0.94824	2.824000	0.97209	0.655000	0.94253	GGT		0.433	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		T	70502693	G	T	70502693	3	4	221	1	0	0	0	0	1	0	0	0	11610	1000	35	4	772	4	PCYOX1	2	70502693	Missense_Mutation	SNP	G	TCGA-B0-5703-01A-11D-1534-10	61018001	70502693	172696680	11	13355											
RMND5A	64795	broad.mit.edu;hgsc.bcm.edu	37	2	86980658	86980658	+	Silent	SNP	C	C	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr2:86980658C>T	ENST00000283632.4	+	4	993	c.498C>T	c.(496-498)gtC>gtT	p.V166V		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	166	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.							p.V166V(1)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						CATTAAAGGTCAGAGTTCTGA	0.373																																																1	Substitution - coding silent(1)	kidney(1)											129	128	128					2																	86980658		2203	4300	6503	SO:0001819	synonymous_variant	64795			BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog A"					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.498C>T	2.37:g.86980658C>T			D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Silent	SNP	ENST00000283632.4	37	CCDS1991.1																																																																																				0.373	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		T	86980658	C	T	86980658	2	4	221	1	0	0	0	0	0	0	0	1	13403	813	29	2		2	RMND5A	2	86980658	Silent	SNP	C	TCGA-B0-5703-01A-11D-1534-10	16477965	86980658	156218715	12	13356											
MAP3K2	10746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128066283	128066283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr2:128066283delG	ENST00000409947.1	-	16	1794	c.1512delC	c.(1510-1512)gccfs	p.A504fs	MAP3K2_ENST00000344908.5_Frame_Shift_Del_p.A504fs			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	504	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	GCCGTTTGCTGGCCCCAAAAT	0.468																																																0													127	128	127					2																	128066283		1946	4154	6100	SO:0001589	frameshift_variant	10746			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1512delC	2.37:g.128066283delG	ENSP00000387246:p.Ala504fs		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Frame_Shift_Del	DEL	ENST00000409947.1	37	CCDS46404.1																																																																																				0.468	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		-	128066283	G	-	128066283	7	5	221	1	0	1	0	1	0	0	0	0	9252	1335	47	0	355	0	MAP3K2	2	128066283	Frame_Shift_Del	DEL	G	TCGA-B0-5703-01A-11D-1534-10	41085625	128066283	115133090	13	13357											
DPP4	1803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	162902066	162902066	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr2:162902066A>C	ENST00000360534.3	-	5	902	c.342T>G	c.(340-342)atT>atG	p.I114M		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	114					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.I114M(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ATTCTAAGAGAATAAACTGCC	0.303																																																1	Substitution - Missense(1)	kidney(1)											79	83	82					2																	162902066		2203	4299	6502	SO:0001583	missense	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.342T>G	2.37:g.162902066A>C	ENSP00000353731:p.Ile114Met		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204370	0.38905	.	.	ENSG00000197635	ENST00000360534	D	0.96587	-4.06	4.15	2.89	0.33648	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.580057	0.18526	N	0.138639	D	0.96349	0.8809	L	0.55103	1.725	0.24889	N	0.992178	B	0.25521	0.128	P	0.48873	0.593	D	0.92492	0.6001	10	0.72032	D	0.01	2.9651	8.0895	0.30793	0.8194:0.0:0.0:0.1806	.	114	P27487	DPP4_HUMAN	M	114	ENSP00000353731:I114M	ENSP00000353731:I114M	I	-	3	3	DPP4	162610312	0.997000	0.39634	0.987000	0.45799	0.939000	0.58152	1.125000	0.31332	1.888000	0.54679	0.379000	0.24179	ATT		0.303	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			C	162902066	A	C	162902066	3	2	221	1	0	0	0	0	1	0	0	0	4731	242	9	5	2046	5	DPP4	2	162902066	Missense_Mutation	SNP	A	TCGA-B0-5703-01A-11D-1534-10	34835783	162902066	80297307	14	13358											
PGAP1	80055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	197777686	197777686	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr2:197777686T>G	ENST00000354764.4	-	4	683	c.569A>C	c.(568-570)aAg>aCg	p.K190T	PGAP1_ENST00000409475.1_Missense_Mutation_p.K190T|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.K148T	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	190					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.K190T(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CAGATCATGCTTAAAATTTTT	0.378																																																1	Substitution - Missense(1)	kidney(1)											107	103	104					2																	197777686		2203	4300	6503	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.569A>C	2.37:g.197777686T>G	ENSP00000346809:p.Lys190Thr		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.603880	0.66445	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	D;D;D	0.85773	-2.03;-2.03;-2.03	5.25	4.07	0.47477	.	0.100034	0.64402	D	0.000002	T	0.76227	0.3958	N	0.17474	0.49	0.36810	D	0.885832	P;D;B	0.56035	0.837;0.974;0.103	P;P;B	0.48189	0.551;0.57;0.062	T	0.74166	-0.3753	10	0.10902	T	0.67	-15.116	12.4003	0.55410	0.0:0.0:0.1407:0.8593	.	148;190;190	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	T	190;190;148	ENSP00000346809:K190T;ENSP00000387028:K190T;ENSP00000386802:K148T	ENSP00000346809:K190T	K	-	2	0	PGAP1	197485931	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.352000	0.66028	0.999000	0.39023	0.529000	0.55759	AAG		0.378	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		G	197777686	T	G	197777686	3	3	221	1	0	0	0	0	1	0	0	0	11779	1609	56	5	2295	5	PGAP1	2	197777686	Missense_Mutation	SNP	T	TCGA-B0-5703-01A-11D-1534-10	34875620	197777686	45421687	15	13359											
KIF1A	547	broad.mit.edu;ucsc.edu	37	2	241662861	241662861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr2:241662861C>T	ENST00000320389.7	-	40	4288	c.4130G>A	c.(4129-4131)tGg>tAg	p.W1377*	KIF1A_ENST00000498729.2_Nonsense_Mutation_p.W1478*	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1377					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.W1377*(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCAGCTCCCACTGGTGGTC	0.627																																																1	Substitution - Nonsense(1)	kidney(1)											19	23	22					2																	241662861		2006	4098	6104	SO:0001587	stop_gained	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4130G>A	2.37:g.241662861C>T	ENSP00000322791:p.Trp1377*		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Nonsense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	12.019250|12.019250	0.99627|0.99627	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000431776|ENST00000320389;ENST00000498729;ENST00000373308	.|.	.|.	.|.	3.33|3.33	3.33|3.33	0.38152|0.38152	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|.	0.44244|.	0.1284|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.46624|.	-0.9178|.	3|.	.|0.10111	.|T	.|0.7	.|.	14.6499|14.6499	0.68789|0.68789	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	310|1377;1478;1486	.|.	.|ENSP00000322791:W1377X	G|W	-|-	1|2	0|0	KIF1A|KIF1A	241311534|241311534	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.567000|7.567000	0.82357|0.82357	1.403000|1.403000	0.46800|0.46800	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.627	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		T	241662861	C	T	241662861	4	4	221	1	0	0	0	0	0	1	0	0	8285	595	21	2	974	2	KIF1A	2	241662861	Nonsense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10	43885175	241662861	1536512	16	13360											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191558	10191558	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr3:10191558T>C	ENST00000256474.2	+	3	1391	c.551T>C	c.(550-552)cTc>cCc	p.L184P	VHL_ENST00000345392.2_Missense_Mutation_p.L143P|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	184			L -> P (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|L -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L184P(6)|p.L184R(1)|p.Y185fs*14(1)|p.S183*(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCAGGTCGCTCTACGAAGAT	0.517		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Substitution - Missense(7)|Deletion - Frameshift(2)	kidney(9)	GRCh37	CM042503|CM941389|CM961440	VHL	M							83	75	78					3																	10191558		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.551T>C	3.37:g.10191558T>C	ENSP00000256474:p.Leu184Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039597	0.55003	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99879	-7.44;-7.44	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96159	0.9114	10	0.87932	D	0	0.329	12.9354	0.58311	0.0:0.0:0.0:1.0	.	143;184	P40337-2;P40337	.;VHL_HUMAN	P	184;143;102	ENSP00000256474:L184P;ENSP00000344757:L143P	ENSP00000256474:L184P	L	+	2	0	VHL	10166558	0.992000	0.36948	0.737000	0.30932	0.208000	0.24298	5.765000	0.68834	2.209000	0.71365	0.533000	0.62120	CTC		0.517	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10191558	T	C	10191558	3	2	221	1	0	0	0	0	1	0	0	0	17167	1551	54	3	561	3	VHL	3	10191558	Missense_Mutation	SNP	T	TCGA-B0-5703-01A-11D-1534-10		10191558	187830872	17	13361											
XIRP1	165904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	39227553	39227553	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr3:39227553delG	ENST00000340369.3	-	2	3612	c.3384delC	c.(3382-3384)cccfs	p.P1128fs	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1128					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCAGCCCTCTGGGTAGTGCTT	0.597																																																0													66	71	69					3																	39227553		2203	4300	6503	SO:0001589	frameshift_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3384delC	3.37:g.39227553delG	ENSP00000343140:p.Pro1128fs		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Frame_Shift_Del	DEL	ENST00000340369.3	37	CCDS2683.1																																																																																				0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		-	39227553	G	-	39227553	7	5	221	1	0	1	0	1	0	0	0	0	17434	1335	47	0	2151	0	XIRP1	3	39227553	Frame_Shift_Del	DEL	G	TCGA-B0-5703-01A-11D-1534-10	29035995	39227553	158794877	18	13362											
PBRM1	55193	hgsc.bcm.edu	37	3	52678784	52678784	+	Frame_Shift_Del	DEL	T	T	-	rs369874660		TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr3:52678784delT	ENST00000296302.7	-	8	836	c.835delA	c.(835-837)atafs	p.I279fs	PBRM1_ENST00000409114.3_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.I279fs			Q86U86	PB1_HUMAN	polybromo 1	279					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I279fs*4(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		atataaaatatttttttaatt	0.358			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	7	Deletion - Frameshift(7)	kidney(7)											41	41	41					3																	52678784		2200	4299	6499	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.835delA	3.37:g.52678784delT	ENSP00000296302:p.Ile279fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52678784	T	-	52678784	7	5	221	1	0	1	0	1	0	0	0	0	11493	1493	52	0	4157	0	PBRM1	3	52678784	Frame_Shift_Del	DEL	T	TCGA-B0-5703-01A-11D-1534-10	13451231	52678784	145343646	19	13363											
SI	6476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	164754179	164754179	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr3:164754179T>G	ENST00000264382.3	-	22	2575	c.2513A>C	c.(2512-2514)aAa>aCa	p.K838T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	838	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.K838T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGACTTACCTTTAGTTTCTCC	0.338										HNSCC(35;0.089)																																						1	Substitution - Missense(1)	kidney(1)											110	113	112					3																	164754179		2203	4299	6502	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2513A>C	3.37:g.164754179T>G	ENSP00000264382:p.Lys838Thr		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	8.726	0.915438	0.17907	.	.	ENSG00000090402	ENST00000264382	D	0.88509	-2.39	4.52	-6.69	0.01772	.	0.237557	0.43110	N	0.000608	T	0.78020	0.4218	L	0.55103	1.725	0.21802	N	0.999537	B	0.09022	0.002	B	0.09377	0.004	T	0.62282	-0.6887	10	0.23302	T	0.38	.	3.6385	0.08158	0.3167:0.071:0.4303:0.182	.	838	P14410	SUIS_HUMAN	T	838	ENSP00000264382:K838T	ENSP00000264382:K838T	K	-	2	0	SI	166236873	0.143000	0.22626	0.044000	0.18714	0.837000	0.47467	-0.144000	0.10280	-1.239000	0.02532	-0.321000	0.08615	AAA		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		G	164754179	T	G	164754179	3	3	221	1	0	0	0	0	1	0	0	0	14303	1841	64	5	3078	5	SI	3	164754179	Missense_Mutation	SNP	T	TCGA-B0-5703-01A-11D-1534-10	112075395	164754179	33268251	20	13364											
DOK7	285489	broad.mit.edu;ucsc.edu	37	4	3478155	3478155	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr4:3478155T>G	ENST00000340083.5	+	4	483	c.418T>G	c.(418-420)Ttg>Gtg	p.L140V	DOK7_ENST00000507039.1_Missense_Mutation_p.L140V|DOK7_ENST00000389653.2_Missense_Mutation_p.L140V	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	140	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)	p.L140V(1)		kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGTCCTCGTCTTGGCCAGGGA	0.647																																																1	Substitution - Missense(1)	kidney(1)											93	78	83					4																	3478155		2203	4299	6502	SO:0001583	missense	285489			AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.418T>G	4.37:g.3478155T>G	ENSP00000344432:p.Leu140Val		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478206	0.44044	.	.	ENSG00000175920	ENST00000389653;ENST00000507039;ENST00000340083	D;D;D	0.91124	-2.79;-2.79;-2.79	4.42	0.878	0.19150	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (2);	0.296706	0.26496	N	0.024054	D	0.83041	0.5168	L	0.41356	1.27	0.31151	N	0.705441	B	0.06786	0.001	B	0.12156	0.007	T	0.73325	-0.4018	10	0.34782	T	0.22	-12.0487	6.6704	0.23066	0.0:0.5497:0.2011:0.2492	.	140	Q18PE1	DOK7_HUMAN	V	140	ENSP00000374304:L140V;ENSP00000423614:L140V;ENSP00000344432:L140V	ENSP00000344432:L140V	L	+	1	2	DOK7	3447953	0.086000	0.21541	0.560000	0.28344	0.985000	0.73830	0.248000	0.18198	0.099000	0.17552	0.402000	0.26972	TTG		0.647	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		G	3478155	T	G	3478155	3	3	221	1	0	0	0	0	1	0	0	0	4704	1606	56	5	432	5	DOK7	4	3478155	Missense_Mutation	SNP	T	TCGA-B0-5703-01A-11D-1534-10		3478155	187676121	21	13365											
ODZ3	55714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	183714853	183714853	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr4:183714853A>G	ENST00000511685.1	+	26	7151	c.7028A>G	c.(7027-7029)tAt>tGt	p.Y2343C	TENM3_ENST00000406950.2_Missense_Mutation_p.Y2343C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2343					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Y2343C(1)									GGTGGCCTGTATGACCCACTC	0.403																																																1	Substitution - Missense(1)	kidney(1)											126	124	125					4																	183714853		1867	4094	5961	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7028A>G	4.37:g.183714853A>G	ENSP00000424226:p.Tyr2343Cys		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231330	0.58777	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.88046	-2.33;-2.33	5.17	5.17	0.71159	Rhs repeat-associated core (1);	.	.	.	.	D	0.93752	0.8003	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.94642	0.7831	9	0.72032	D	0.01	.	15.1922	0.73053	1.0:0.0:0.0:0.0	.	2343	Q9P273	TEN3_HUMAN	C	2343	ENSP00000424226:Y2343C;ENSP00000385276:Y2343C	ENSP00000385276:Y2343C	Y	+	2	0	ODZ3	183951847	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.107000	0.94261	2.168000	0.68352	0.533000	0.62120	TAT		0.403	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			G	183714853	A	G	183714853	3	3	221	1	0	0	0	0	1	0	0	0	10838	449	16	3	7126	3	ODZ3	4	183714853	Missense_Mutation	SNP	A	TCGA-B0-5703-01A-11D-1534-10	180236698	183714853	7439423	22	13366											
CLPTM1L	81037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	1331925	1331925	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr5:1331925G>A	ENST00000320895.5	-	8	1222	c.965C>T	c.(964-966)tCc>tTc	p.S322F	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.S189F|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.S322F	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	322					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S322F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TGCCTTGGTGGACATGCCGAT	0.552																																																1	Substitution - Missense(1)	kidney(1)											125	117	120					5																	1331925		2203	4298	6501	SO:0001583	missense	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.965C>T	5.37:g.1331925G>A	ENSP00000313854:p.Ser322Phe		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.170308	0.78452	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.71579	-0.58;0.41;0.26	5.01	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89304	0.3628	10	0.87932	D	0	-47.583	12.723	0.57152	0.0819:0.0:0.9181:0.0	.	322;189	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	F	322;189;322	ENSP00000313854:S322F;ENSP00000423321:S189F;ENSP00000315196:S322F	ENSP00000313854:S322F	S	-	2	0	CLPTM1L	1384925	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.854000	0.92228	1.243000	0.43853	0.586000	0.80456	TCC		0.552	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		A	1331925	G	A	1331925	3	1	221	1	0	0	0	0	1	0	0	0	3557	1174	41	2	691	2	CLPTM1L	5	1331925	Missense_Mutation	SNP	G	TCGA-B0-5703-01A-11D-1534-10		1331925	179583335	23	13367											
MARCH6	10299	broad.mit.edu;ucsc.edu	37	5	10407230	10407230	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr5:10407230T>C	ENST00000274140.5	+	17	1601	c.1469T>C	c.(1468-1470)aTt>aCt	p.I490T	MARCH6_ENST00000503788.1_Missense_Mutation_p.I385T|MARCH6_ENST00000449913.2_Missense_Mutation_p.I442T|MARCH6_ENST00000510792.1_Missense_Mutation_p.I188T	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	490					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I490T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTGGCTCCATTGTCCTCCTG	0.418																																																1	Substitution - Missense(1)	kidney(1)											358	320	333					5																	10407230		2203	4300	6503	SO:0001583	missense	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1469T>C	5.37:g.10407230T>C	ENSP00000274140:p.Ile490Thr		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	T	7.917	0.737787	0.15574	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	N	0.03948	-0.315	0.80722	D	1	B;B;B;B	0.20887	0.012;0.017;0.049;0.006	B;B;B;B	0.20184	0.028;0.007;0.023;0.006	T	0.13229	-1.0517	10	0.22706	T	0.39	-27.5156	16.3245	0.82970	0.0:0.0:0.0:1.0	.	385;442;70;490	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	T	442;385;490;188	ENSP00000414643:I442T;ENSP00000425930:I385T;ENSP00000274140:I490T;ENSP00000424512:I188T	ENSP00000274140:I490T	I	+	2	0	MARCH6	10460230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.254000	0.74563	0.460000	0.39030	ATT		0.418	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		C	10407230	T	C	10407230	3	2	221	1	0	0	0	0	1	0	0	0	9307	1493	52	3	1535	3	MARCH6	5	10407230	Missense_Mutation	SNP	T	TCGA-B0-5703-01A-11D-1534-10	9075305	10407230	170508030	24	13368											
SFRS12	140890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	65455077	65455077	+	5'UTR	SNP	C	C	G			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr5:65455077C>G	ENST00000380918.3	+	0	638				SREK1_ENST00000334121.6_Missense_Mutation_p.S109C|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S109C(1)		breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AAAGCCCTCTCTTTATTGGCT	0.428																																					GBM(10;31 347 27684 38976 41583)											1	Substitution - Missense(1)	kidney(1)											82	85	84					5																	65455077		2203	4300	6503	SO:0001623	5_prime_UTR_variant	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"RNA binding motif (RRM) containing"	17882	protein-coding gene	gene with protein product	"serine-arginine-rich splicing regulatory protein 508"	609268	"splicing factor, arginine/serine-rich 12"	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.-23C>G	5.37:g.65455077C>G			A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812963	0.50527	.	.	ENSG00000153914	ENST00000334121;ENST00000537482	T	0.50277	0.75	5.73	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	P	0.58873	0.847	T	0.64685	-0.6349	10	0.66056	D	0.02	.	14.7007	0.69154	0.0:0.9303:0.0:0.0697	.	109	Q8WXA9-2	.	C	109	ENSP00000334538:S109C	ENSP00000334538:S109C	S	+	2	0	SREK1	65490833	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.818000	0.86416	1.421000	0.47157	-0.229000	0.12294	TCT		0.428	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		G	65455077	C	G	65455077	1	3	221	0	1	0	0	0	0	0	0	0	14173	913	32	4		4	SFRS12	5	65455077	5'UTR	SNP	C	TCGA-B0-5703-01A-11D-1534-10	55047847	65455077	115460183	25	13369											
AGGF1	55109	broad.mit.edu	37	5	76348572	76348572	+	Silent	SNP	T	T	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr5:76348572T>C	ENST00000312916.7	+	9	1789	c.1407T>C	c.(1405-1407)taT>taC	p.Y469Y		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	469	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)	p.Y469Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TACAAAGTTATGTCCTTGTGG	0.299																																																1	Substitution - coding silent(1)	kidney(1)											93	90	91					5																	76348572		2203	4300	6503	SO:0001819	synonymous_variant	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1407T>C	5.37:g.76348572T>C			O00581|Q53YS3|Q9BU84|Q9NW66	Silent	SNP	ENST00000312916.7	37	CCDS4035.1																																																																																				0.299	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		C	76348572	T	C	76348572	2	2	221	1	0	0	0	0	0	0	0	1	382	1471	51	3		3	AGGF1	5	76348572	Silent	SNP	T	TCGA-B0-5703-01A-11D-1534-10	10893495	76348572	104566688	26	13370											
TGFBI	7045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	135382106	135382107	+	Silent	DNP	GC	GC	AT			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr5:135382106_135382107GC>AT	ENST00000442011.2	+	4	542_543	c.381_382GC>AT	c.(379-384)aaGCtg>aaATtg	p.127_128KL>KL	TGFBI_ENST00000305126.8_Silent_p.127_128KL>KL|TGFBI_ENST00000504185.1_3'UTR	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	127	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.L128L(1)|p.K127K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCACGGAGAAGCTGAGGCCTGA	0.619																																																2	Substitution - coding silent(2)	kidney(2)																																								SO:0001819	synonymous_variant	7045			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	Exception_encountered	5.37:g.135382106_135382107delinsAT			D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	CCDS47266.1																																																																																				0.619	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			AT	135382107	GC	AT	135382106	2	1	221	1	0	0	0	0	0	0	0	1	15825	962	34	2		2	TGFBI	5	135382106	Silent	DNP	GC	TCGA-B0-5703-01A-11D-1534-10	59033534	135382106	45533154	27	13371											
CNOT6	57472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179994125	179994125	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr5:179994125T>C	ENST00000393356.1	+	10	1179	c.755T>C	c.(754-756)gTa>gCa	p.V252A	CNOT6_ENST00000261951.4_Missense_Mutation_p.V252A			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	252	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)	p.V252A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTTTCTGGTAGAGCTGAAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											127	124	125					5																	179994125		2203	4300	6503	SO:0001583	missense	57472			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.755T>C	5.37:g.179994125T>C	ENSP00000377024:p.Val252Ala		A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492308	0.44352	.	.	ENSG00000113300	ENST00000261951;ENST00000393356;ENST00000504343	T;T;T	0.78924	-1.22;-1.22;-1.22	5.36	5.36	0.76844	Endonuclease/exonuclease/phosphatase (2);	0.199295	0.44688	N	0.000427	T	0.58221	0.2107	N	0.14661	0.345	0.39721	D	0.971467	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.55328	-0.8158	9	.	.	.	-9.4813	8.2077	0.31465	0.0:0.1501:0.0:0.8499	.	156;252	D6R9H6;Q9ULM6	.;CNOT6_HUMAN	A	252;252;156	ENSP00000261951:V252A;ENSP00000377024:V252A;ENSP00000422087:V156A	.	V	+	2	0	CNOT6	179926731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.620000	0.36976	2.173000	0.68751	0.533000	0.62120	GTA		0.363	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		C	179994125	T	C	179994125	3	2	221	1	0	0	0	0	1	0	0	0	3624	1638	57	3	781	3	CNOT6	5	179994125	Missense_Mutation	SNP	T	TCGA-B0-5703-01A-11D-1534-10	44612019	179994125	921135	28	13372											
HIST1H1A	3024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	26017495	26017495	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr6:26017495C>A	ENST00000244573.3	-	1	545	c.466G>T	c.(466-468)Gct>Tct	p.A156S		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	156					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)	p.A156S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						GGCTTTTTAGCCTTTTTCGGA	0.463																																																1	Substitution - Missense(1)	kidney(1)											163	173	169					6																	26017495		2203	4300	6503	SO:0001583	missense	3024			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.466G>T	6.37:g.26017495C>A	ENSP00000244573:p.Ala156Ser		Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	7.105	0.574920	0.13623	.	.	ENSG00000124610	ENST00000244573	T	0.17854	2.25	4.31	1.46	0.22682	.	0.344359	0.29080	N	0.013217	T	0.04003	0.0112	L	0.36672	1.1	0.33357	D	0.571839	P	0.35745	0.518	B	0.30401	0.115	T	0.33803	-0.9854	10	0.52906	T	0.07	-5.0413	6.0122	0.19582	0.0:0.5237:0.3057:0.1706	.	156	Q02539	H11_HUMAN	S	156	ENSP00000244573:A156S	ENSP00000244573:A156S	A	-	1	0	HIST1H1A	26125474	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.843000	0.27640	0.147000	0.19030	0.609000	0.83330	GCT		0.463	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		A	26017495	C	A	26017495	3	1	221	1	0	0	0	0	1	0	0	0	7124	739	26	4	185	4	HIST1H1A	6	26017495	Missense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10		26017495	145097572	29	13373											
MAPK14	1432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36043701	36043701	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr6:36043701C>A	ENST00000229794.4	+	7	960	c.572C>A	c.(571-573)cCt>cAt	p.P191H	MAPK14_ENST00000229795.3_Missense_Mutation_p.P191H|MAPK14_ENST00000468133.1_Missense_Mutation_p.P114H|MAPK14_ENST00000310795.4_Missense_Mutation_p.P191H	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)	p.P191H(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TACAGGGCTCCTGAGATCATG	0.468																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)											2	Substitution - Missense(2)	kidney(2)											134	121	125					6																	36043701		2203	4300	6503	SO:0001583	missense	1432			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"Mitogen-activated protein kinase cascade / Kinases"	6876	protein-coding gene	gene with protein product	"p38 MAP kinase"	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.572C>A	6.37:g.36043701C>A	ENSP00000229794:p.Pro191His		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	37	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251993	0.95336	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133;ENST00000310795;ENST00000472333	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.97	5.97	0.96955	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90672	0.7074	H	0.99689	4.705	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.94125	0.7383	10	0.87932	D	0	-8.2201	20.4388	0.99107	0.0:1.0:0.0:0.0	.	191;191;191;191;191	B5TY32;Q16539-4;Q16539;Q16539-2;Q16539-3	.;.;MK14_HUMAN;.;.	H	191;191;114;191;114	ENSP00000229795:P191H;ENSP00000229794:P191H;ENSP00000419837:P114H;ENSP00000308669:P191H;ENSP00000419141:P114H	ENSP00000229794:P191H	P	+	2	0	MAPK14	36151679	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	CCT		0.468	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		A	36043701	C	A	36043701	3	1	221	1	0	0	0	0	1	0	0	0	9278	681	24	4	598	4	MAPK14	6	36043701	Missense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10	10026206	36043701	135071366	30	13374											
SUPT3H	8464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44921067	44921067	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr6:44921067G>C	ENST00000371459.1	-	9	946	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	SUPT3H_ENST00000371458.1_Missense_Mutation_p.Q44E|SUPT3H_ENST00000306867.5_Missense_Mutation_p.Q261E|SUPT3H_ENST00000371461.2_Missense_Mutation_p.Q272E|SUPT3H_ENST00000371460.1_Missense_Mutation_p.Q272E	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	343					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)	p.Q272E(1)|p.Q261E(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TTGTGATACTGAATGAAGGTT	0.393																																																2	Substitution - Missense(2)	kidney(2)											100	95	97					6																	44921067		2203	4300	6503	SO:0001583	missense	8464			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.781C>G	6.37:g.44921067G>C	ENSP00000360514:p.Gln261Glu		A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032438	0.54790	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000371458;ENST00000306867;ENST00000371461	T;T;T;T;T	0.42513	0.99;1.01;0.97;1.01;0.99	6.04	6.04	0.98038	.	0.178915	0.51477	D	0.000088	T	0.20981	0.0505	L	0.35414	1.06	0.51233	D	0.999914	P;D	0.54207	0.774;0.965	P;B	0.44946	0.465;0.322	T	0.06607	-1.0817	10	0.02654	T	1	.	18.7754	0.91910	0.0:0.0:1.0:0.0	.	272;343	O75486-3;O75486	.;SUPT3_HUMAN	E	272;261;44;261;272	ENSP00000360515:Q272E;ENSP00000360514:Q261E;ENSP00000360513:Q44E;ENSP00000306718:Q261E;ENSP00000360516:Q272E	ENSP00000306718:Q261E	Q	-	1	0	SUPT3H	45029045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.409000	0.90223	2.873000	0.98535	0.563000	0.77884	CAG		0.393	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		C	44921067	G	C	44921067	3	2	221	1	0	0	0	0	1	0	0	0	15402	1299	45	4	184	4	SUPT3H	6	44921067	Missense_Mutation	SNP	G	TCGA-B0-5703-01A-11D-1534-10	8877366	44921067	126194000	31	13375											
FAM46A	55603	broad.mit.edu	37	6	82461713	82461713	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr6:82461713delC	ENST00000320172.6	-	2	460	c.146delG	c.(145-147)ggtfs	p.G50fs	FAM46A_ENST00000369754.3_Frame_Shift_Del_p.G69fs|FAM46A_ENST00000369756.3_Frame_Shift_Del_p.G131fs	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	50					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)	p.G49D(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		GCAATGCCCACCGAAgctgcc	0.672																																																1	Substitution - Missense(1)	skin(1)											18	18	18					6																	82461713		2173	4262	6435	SO:0001589	frameshift_variant	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.146delG	6.37:g.82461713delC	ENSP00000318298:p.Gly50fs		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Frame_Shift_Del	DEL	ENST00000320172.6	37	CCDS34489.1																																																																																				0.672	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			-	82461713	C	-	82461713	7	5	221	1	0	1	0	1	0	0	0	0	5567	507	18	0	1190	0	FAM46A	6	82461713	Frame_Shift_Del	DEL	C	TCGA-B0-5703-01A-11D-1534-10	37540646	82461713	88653354	32	13376											
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu	37	7	121637955	121637955	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr7:121637955C>G	ENST00000393386.2	+	10	1546	c.1135C>G	c.(1135-1137)Cta>Gta	p.L379V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L379V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	379	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L379V(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATAATTTGCTACCCAATAT	0.348																																																2	Substitution - Missense(2)	kidney(2)											77	74	75					7																	121637955		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1135C>G	7.37:g.121637955C>G	ENSP00000377047:p.Leu379Val		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	9.251	1.040858	0.19669	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.57107	0.42;0.42	5.51	3.68	0.42216	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.380794	0.22351	N	0.061204	T	0.34019	0.0883	N	0.12182	0.205	0.27806	N	0.942324	B;P	0.38110	0.013;0.618	B;B	0.42138	0.016;0.377	T	0.14392	-1.0474	10	0.41790	T	0.15	.	5.124	0.14875	0.2669:0.5345:0.129:0.0695	.	379;379	C9JFM0;P23471	.;PTPRZ_HUMAN	V	379	ENSP00000377047:L379V;ENSP00000410000:L379V	ENSP00000377047:L379V	L	+	1	2	PTPRZ1	121425191	0.931000	0.31567	0.999000	0.59377	0.982000	0.71751	0.052000	0.14163	0.663000	0.31027	0.585000	0.79938	CTA		0.348	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		G	121637955	C	G	121637955	3	3	221	1	0	0	0	0	1	0	0	0	12820	796	28	4	1173	4	PTPRZ1	7	121637955	Missense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10		121637955	37500708	33	13377											
PLXNA4	91584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	131866156	131866156	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr7:131866156G>A	ENST00000359827.3	-	18	4438	c.3476C>T	c.(3475-3477)aCg>aTg	p.T1159M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1159M			Q9HCM2	PLXA4_HUMAN	plexin A4	1159	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.T1159M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GATGATGGGCGTGCCAGGCTT	0.582																																																2	Substitution - Missense(2)	kidney(2)											158	165	162					7																	131866156		1952	4140	6092	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3476C>T	7.37:g.131866156G>A	ENSP00000352882:p.Thr1159Met		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053605	0.75960	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.65732	-0.17;-0.17	5.1	5.1	0.69264	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	2.295700	0.01679	N	0.026049	T	0.70413	0.3221	L	0.36672	1.1	0.47994	D	0.999563	D	0.56521	0.976	P	0.52793	0.709	T	0.56950	-0.7894	10	0.62326	D	0.03	.	15.1678	0.72842	0.0:0.1515:0.8485:0.0	.	1159	Q9HCM2	PLXA4_HUMAN	M	1159	ENSP00000323194:T1159M;ENSP00000352882:T1159M	ENSP00000323194:T1159M	T	-	2	0	PLXNA4	131516696	1.000000	0.71417	0.938000	0.37757	0.978000	0.69477	6.290000	0.72712	2.381000	0.81170	0.561000	0.74099	ACG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131866156	G	A	131866156	3	1	221	1	0	0	0	0	1	0	0	0	12124	1145	40	1	2268	1	PLXNA4	7	131866156	Missense_Mutation	SNP	G	TCGA-B0-5703-01A-11D-1534-10	10228201	131866156	27272507	34	13378											
TAS2R39	259285	hgsc.bcm.edu;ucsc.edu	37	7	142881197	142881197	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr7:142881197delC	ENST00000446620.1	+	1	686	c.686delC	c.(685-687)accfs	p.T229fs		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	229					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CTGACAGCCACCCTGCTGATC	0.502																																																0													135	125	128					7																	142881197		1993	4155	6148	SO:0001589	frameshift_variant	259285			AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.686delC	7.37:g.142881197delC	ENSP00000405095:p.Thr229fs		A4FUI7|Q3ZCN6|Q645W4	Frame_Shift_Del	DEL	ENST00000446620.1	37	CCDS47729.1																																																																																				0.502	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881		-	142881197	C	-	142881197	7	5	221	1	0	1	0	1	0	0	0	0	15581	507	18	0	688	0	TAS2R39	7	142881197	Frame_Shift_Del	DEL	C	TCGA-B0-5703-01A-11D-1534-10	11015041	142881197	16257466	35	13379											
GPR124	25960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	37688398	37688398	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr8:37688398C>T	ENST00000412232.2	+	7	902	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	GPR124_ENST00000315215.7_Missense_Mutation_p.L297F	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	297	Ig-like.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L290F(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCGGGCATCCTCCTGGCCGA	0.647																																																1	Substitution - Missense(1)	kidney(1)											55	41	46					8																	37688398		2196	4289	6485	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.889C>T	8.37:g.37688398C>T	ENSP00000406367:p.Leu297Phe		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	3.319	-0.139224	0.06669	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.57907	0.37;0.53	5.02	2.95	0.34219	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.504894	0.20519	N	0.090723	T	0.20129	0.0484	N	0.01874	-0.695	0.25546	N	0.987132	B;B	0.22276	0.067;0.012	B;B	0.24541	0.054;0.009	T	0.27054	-1.0085	10	0.07482	T	0.82	-18.2695	6.6814	0.23123	0.4381:0.4373:0.1246:0.0	.	297;297	Q96PE1-2;Q96PE1	.;GP124_HUMAN	F	290;297;297	ENSP00000323508:L297F;ENSP00000406367:L297F	ENSP00000323508:L297F	L	+	1	0	GPR124	37807556	0.955000	0.32602	0.997000	0.53966	0.754000	0.42855	1.833000	0.39161	1.076000	0.40961	0.655000	0.94253	CTC		0.647	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37688398	C	T	37688398	3	4	221	1	0	0	0	0	1	0	0	0	6640	681	24	2	894	2	GPR124	8	37688398	Missense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10		37688398	108675624	36	13380											
RP1	6101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	55540593	55540593	+	Missense_Mutation	SNP	T	T	G	rs557457666		TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr8:55540593T>G	ENST00000220676.1	+	4	4299	c.4151T>G	c.(4150-4152)tTt>tGt	p.F1384C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1384					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.F1384C(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAAATGGATTTAATACATTG	0.328																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	kidney(1)											52	57	56					8																	55540593		2201	4300	6501	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4151T>G	8.37:g.55540593T>G	ENSP00000220676:p.Phe1384Cys			Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	2.901	-0.227558	0.06022	.	.	ENSG00000104237	ENST00000220676	T	0.21191	2.02	5.52	-1.12	0.09808	.	1.641830	0.03423	N	0.206583	T	0.15435	0.0372	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.35574	-0.9783	10	0.72032	D	0.01	.	6.4223	0.21750	0.0:0.3907:0.2626:0.3468	.	1384	P56715	RP1_HUMAN	C	1384	ENSP00000220676:F1384C	ENSP00000220676:F1384C	F	+	2	0	RP1	55703146	0.000000	0.05858	0.001000	0.08648	0.315000	0.28087	-0.195000	0.09546	-0.440000	0.07211	-0.274000	0.10170	TTT		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		G	55540593	T	G	55540593	3	3	221	1	0	0	0	0	1	0	0	0	13538	1841	64	5	4161	5	RP1	8	55540593	Missense_Mutation	SNP	T	TCGA-B0-5703-01A-11D-1534-10	17852195	55540593	90823429	37	13381											
TMC1	117531	hgsc.bcm.edu;ucsc.edu	37	9	75309453	75309471	+	Splice_Site	DEL	GTTTAGGTGAAGAGGAAGA	GTTTAGGTGAAGAGGAAGA	-			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	GTTTAGGTGAAGAGGAAGA	GTTTAGGTGAAGAGGAAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr9:75309453_75309471delGTTTAGGTGAAGAGGAAGA	ENST00000297784.5	+	7	604_617	c.64_77delGTTTAGGTGAAGAGGAAGA	c.(64-78)gtttaggtgaagagg>g	p.V*VKR22fs	TMC1_ENST00000396237.3_Splice_Site_p.V*VKR22fs|TMC1_ENST00000340019.3_Splice_Site_p.V*VKR22fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	22	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CAAGTGCTATGTTTAGGTGAAGAGGAAGAGGAGGTGGAA	0.42																																					Pancreas(75;173 1345 14232 34245 43413)											0																																										SO:0001630	splice_region_variant	117531			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.65-1GTTTAGGTGAAGAGGAAGA>-	9.37:g.75309453_75309471delGTTTAGGTGAAGAGGAAGA			A8MVZ2|B1AM91	In_Frame_Del	DEL	ENST00000297784.5	37	CCDS6643.1																																																																																				0.42	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		Frame_Shift_Del	-	75309471	GTTTAGGTGAAGAGGAAGA	-	75309453	8	5	221	1	0	1	0	1	0	0	1	0	15989	1392	48	0		0	TMC1	9	75309453	Splice_Site	DEL	GTTTAGGTGAAGAGGAAGA	TCGA-B0-5703-01A-11D-1534-10		75309453	65903978	38	13382											
PRUNE2	158471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79325303	79325303	+	Silent	SNP	G	G	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr9:79325303G>T	ENST00000376718.3	-	8	2010	c.1887C>A	c.(1885-1887)ctC>ctA	p.L629L	PRUNE2_ENST00000428286.1_Silent_p.L270L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	629					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.L629L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTGTATAGAGTGAGGCTG	0.493																																																1	Substitution - coding silent(1)	kidney(1)											111	100	103					9																	79325303		1568	3582	5150	SO:0001819	synonymous_variant	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1887C>A	9.37:g.79325303G>T			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1																																																																																				0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		T	79325303	G	T	79325303	2	4	221	1	0	0	0	0	0	0	0	1	12646	929	33	4		4	PRUNE2	9	79325303	Silent	SNP	G	TCGA-B0-5703-01A-11D-1534-10	4015850	79325303	61888128	39	13383											
EPB41L4B	54566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	112005948	112005948	+	Silent	SNP	A	A	G			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr9:112005948A>G	ENST00000374566.3	-	15	1876	c.1359T>C	c.(1357-1359)ccT>ccC	p.P453P	EPB41L4B_ENST00000374557.4_Silent_p.P453P	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	453					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.P453P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGGATATTAGGATGATATT	0.453																																																2	Substitution - coding silent(2)	kidney(2)											92	96	95					9																	112005948		1905	4124	6029	SO:0001819	synonymous_variant	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1359T>C	9.37:g.112005948A>G			Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	CCDS43859.1																																																																																				0.453	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		G	112005948	A	G	112005948	2	3	221	1	0	0	0	0	0	0	0	1	5158	407	15	3		3	EPB41L4B	9	112005948	Silent	SNP	A	TCGA-B0-5703-01A-11D-1534-10	32680645	112005948	29207483	40	13384											
DNAJC1	64215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	22193512	22193512	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr10:22193512delT	ENST00000376980.3	-	7	1049	c.759delA	c.(757-759)aaafs	p.K253fs		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	253					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				ATCTTGTTTCTTTATATTTAG	0.279																																																0													109	95	100					10																	22193512		2201	4295	6496	SO:0001589	frameshift_variant	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.759delA	10.37:g.22193512delT	ENSP00000366179:p.Lys253fs		B0YIZ8|Q5VX89|Q9H6B8	Frame_Shift_Del	DEL	ENST00000376980.3	37	CCDS7136.1																																																																																				0.279	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		-	22193512	T	-	22193512	7	5	221	1	0	1	0	1	0	0	0	0	4630	1606	56	0	929	0	DNAJC1	10	22193512	Frame_Shift_Del	DEL	T	TCGA-B0-5703-01A-11D-1534-10		22193512	113341235	41	13385											
SIRT1	23411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	69651246	69651247	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr10:69651246_69651247TC>AT	ENST00000212015.6	+	4	929_930	c.876_877TC>AT	c.(874-879)gaTCct>gaATct	p.292_293DP>ES	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000406900.1_5'UTR|SIRT1_ENST00000432464.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	292	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P293S(1)|p.D292E(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ATCTTCCAGATCCTCAAGCGAT	0.406																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	23411			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	Exception_encountered	10.37:g.69651246_69651247delinsAT	ENSP00000212015:p.D292_P293delinsES		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	CCDS7273.1																																																																																				0.406	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			AT	69651247	TC	AT	69651246	3	1	221	1	0	0	0	0	1	0	0	0	14343	1432	50	5	890	5	SIRT1	10	69651246	Missense_Mutation	DNP	TC	TCGA-B0-5703-01A-11D-1534-10	47457734	69651246	65883501	42	13386											
CNNM1	26507	broad.mit.edu;hgsc.bcm.edu	37	10	101151192	101151192	+	Splice_Site	SNP	A	A	G			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr10:101151192A>G	ENST00000356713.4	+	11	3065		c.e11-1		CNNM1_ENST00000446890.1_Splice_Site|CNNM1_ENST00000370528.3_Splice_Site|CNNM1_ENST00000370534.4_Splice_Site	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1						ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.?(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGTTTTTTTCAGGTGGCCAAA	0.438																																																2	Unknown(2)	kidney(2)											78	70	73					10																	101151192		2203	4300	6503	SO:0001630	splice_region_variant	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2777-1A>G	10.37:g.101151192A>G			Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Splice_Site	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485894	0.63962	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3709	0.83357	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNNM1	101141182	1.000000	0.71417	0.997000	0.53966	0.733000	0.41908	6.522000	0.73783	2.261000	0.74972	0.528000	0.53228	.		0.438	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	Intron	G	101151192	A	G	101151192	5	3	221	1	0	0	0	0	0	0	1	0	3614	202	7	3	2817	3	CNNM1	10	101151192	Splice_Site	SNP	A	TCGA-B0-5703-01A-11D-1534-10	31499946	101151192	34383555	43	13387											
MKI67	4288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129906122	129906122	+	Missense_Mutation	SNP	C	C	T	rs201476882		TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr10:129906122C>T	ENST00000368654.3	-	13	4357	c.3982G>A	c.(3982-3984)Ggc>Agc	p.G1328S	MKI67_ENST00000368653.3_Missense_Mutation_p.G968S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1328	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.G1328S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTGCTGCCGGTTAAGTTC	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18289	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											177	177	177					10																	129906122		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3982G>A	10.37:g.129906122C>T	ENSP00000357643:p.Gly1328Ser		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.46	1.645411	0.29246	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03065	4.06;4.06	4.23	2.34	0.29019	.	0.603419	0.13829	N	0.359869	T	0.07098	0.0180	L	0.54323	1.7	0.09310	N	1	D;D;B	0.71674	0.998;0.998;0.02	P;P;B	0.53649	0.731;0.731;0.027	T	0.25363	-1.0134	10	0.11794	T	0.64	.	8.4218	0.32705	0.0:0.7374:0.0:0.2626	.	1327;968;1328	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	1328;968;1327	ENSP00000357643:G1328S;ENSP00000357642:G968S	ENSP00000357642:G968S	G	-	1	0	MKI67	129796112	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.139000	0.10358	0.341000	0.23771	0.561000	0.74099	GGC		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		T	129906122	C	T	129906122	3	4	221	1	0	0	0	0	1	0	0	0	9600	652	23	1	5800	1	MKI67	10	129906122	Missense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10	28754930	129906122	5628625	44	13388											
OR5AR1	219493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56431824	56431824	+	Silent	SNP	C	C	A	rs144241394		TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr11:56431824C>A	ENST00000302969.2	+	1	687	c.663C>A	c.(661-663)atC>atA	p.I221I		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I221I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATACCTTTATCCTTGTTGCAA	0.483																																																1	Substitution - coding silent(1)	kidney(1)											163	139	147					11																	56431824		2201	4296	6497	SO:0001819	synonymous_variant	219493			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.663C>A	11.37:g.56431824C>A			Q6IF61	Silent	SNP	ENST00000302969.2	37	CCDS31535.1																																																																																				0.483	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		A	56431824	C	A	56431824	2	1	221	1	0	0	0	0	0	0	0	1	11147	845	30	4		4	OR5AR1	11	56431824	Silent	SNP	C	TCGA-B0-5703-01A-11D-1534-10		56431824	78574692	45	13389											
NPAT	4863	hgsc.bcm.edu;ucsc.edu	37	11	108056204	108056205	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr11:108056204_108056205insT	ENST00000278612.8	-	9	848_849	c.743_744insA	c.(742-744)aatfs	p.N248fs	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	248	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTTCTCGTGCATTTTCAATAAC	0.282																																																0																																										SO:0001589	frameshift_variant	4863			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.744dupA	11.37:g.108056208_108056208dupT	ENSP00000278612:p.Asn248fs		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Frame_Shift_Ins	INS	ENST00000278612.8	37	CCDS41710.1																																																																																				0.282	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		T	108056205	-	T	108056204	7	5	221	1	0	1	1	0	0	0	0	0	10568	214	8	0	3579	0	NPAT	11	108056204	Frame_Shift_Ins	INS	-	TCGA-B0-5703-01A-11D-1534-10	51624380	108056204	26950312	46	13390											
ATM	472	broad.mit.edu;ucsc.edu	37	11	108115600	108115600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr11:108115600C>T	ENST00000452508.2	+	8	937	c.748C>T	c.(748-750)Cga>Tga	p.R250*	ATM_ENST00000278616.4_Nonsense_Mutation_p.R250*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	250			R -> Q. {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R250*(4)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTTTCGAATTCGAGTGTGTGA	0.338			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	4	Substitution - Nonsense(4)	large_intestine(2)|kidney(2)	GRCh37	CM030188|CS991299	ATM	M|S							123	114	117					11																	108115600		2200	4298	6498	SO:0001587	stop_gained	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.748C>T	11.37:g.108115600C>T	ENSP00000388058:p.Arg250*		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	38	6.953864	0.97960	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	5.33	3.43	0.39272	.	0.499073	0.19940	N	0.102677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6503	0.45645	0.1323:0.7986:0.0:0.0691	.	.	.	.	X	250	.	ENSP00000278616:R250X	R	+	1	2	ATM	107620810	1.000000	0.71417	0.203000	0.23512	0.947000	0.59692	2.176000	0.42500	0.725000	0.32318	0.650000	0.86243	CGA		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108115600	C	T	108115600	4	4	221	1	0	0	0	0	0	1	0	0	1109	876	31	1	770	1	ATM	11	108115600	Nonsense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10	59396	108115600	26890916	47	13391											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108127062	108127062	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr11:108127062G>A	ENST00000452508.2	+	15	2434	c.2245G>A	c.(2245-2247)Gcc>Acc	p.A749T	ATM_ENST00000278616.4_Missense_Mutation_p.A749T			Q13315	ATM_HUMAN	ATM serine/threonine kinase	749					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.A749T(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATTCCAGAAAGCCAAGGTAGG	0.348			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	2	Substitution - Missense(2)	kidney(2)											85	85	85					11																	108127062		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2245G>A	11.37:g.108127062G>A	ENSP00000388058:p.Ala749Thr		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172729	0.78452	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.74526	-0.85;-0.85;-0.85	5.45	5.45	0.79879	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77552	0.4147	M	0.69823	2.125	0.47584	D	0.999469	P	0.49862	0.929	P	0.46389	0.515	T	0.74009	-0.3802	10	0.15952	T	0.53	.	19.6568	0.95845	0.0:0.0:1.0:0.0	.	749	Q13315	ATM_HUMAN	T	749	ENSP00000435747:A749T;ENSP00000278616:A749T;ENSP00000388058:A749T	ENSP00000278616:A749T	A	+	1	0	ATM	107632272	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.479000	0.81095	2.710000	0.92621	0.557000	0.71058	GCC		0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		A	108127062	G	A	108127062	3	1	221	1	0	0	0	0	1	0	0	0	1109	971	34	2	2295	2	ATM	11	108127062	Missense_Mutation	SNP	G	TCGA-B0-5703-01A-11D-1534-10	11462	108127062	26879454	48	13392											
TAS2R43	259289	hgsc.bcm.edu	37	12	11244071	11244072	+	Frame_Shift_Del	DEL	CC	CC	-	rs202114077|rs200981579	byFrequency	TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr12:11244071_11244072delCC	ENST00000531678.1	-	1	840_841	c.757_758delGG	c.(757-759)ggafs	p.G253fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	253					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTCCAGACTTCCAAAACTCCAA	0.401																																																0										209,3737		84,41,1848						-5.1	0			127	837,6533		316,205,3164	no	frameshift	TAS2R43	NM_176884.2		400,246,5012	A1A1,A1R,RR		11.3569,5.2965,9.2435				1046,10270				SO:0001589	frameshift_variant	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.757_758delGG	12.37:g.11244071_11244072delCC	ENSP00000431719:p.Gly253fs		P59546|Q645X4	Frame_Shift_Del	DEL	ENST00000531678.1	37	CCDS53749.1																																																																																				0.401	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		-	11244072	CC	-	11244071	7	5	221	1	0	1	0	1	0	0	0	0	15586	855	30	0	175	0	TAS2R43	12	11244071	Frame_Shift_Del	DEL	CC	TCGA-B0-5703-01A-11D-1534-10		11244071	122607824	49	13393											
GMFB	2764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	54948128	54948128	+	Splice_Site	SNP	G	G	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr14:54948128G>A	ENST00000358056.3	-	4	467	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	GMFB_ENST00000554908.1_3'UTR|GMFB_ENST00000553566.1_5'UTR	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	67	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of protein kinase activity (GO:0006469)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)|signal transducer activity (GO:0004871)	p.R67C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						AAAGGATATCGAGGTTGTCGT	0.363																																																1	Substitution - Missense(1)	kidney(1)											115	111	112					14																	54948128		2203	4300	6503	SO:0001630	splice_region_variant	2764			M86492	CCDS9718.1	14q22.2	2010-07-06			ENSG00000197045	ENSG00000197045			4373	protein-coding gene	gene with protein product		601713				1712830	Standard	NM_004124		Approved	GMF	uc021rtf.1	P60983	OTTHUMG00000140307	ENST00000358056.3:c.200+1C>T	14.37:g.54948128G>A			B2R499|P17774|Q9BS35	Missense_Mutation	SNP	ENST00000358056.3	37	CCDS9718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.971635|4.971635	0.92919|0.92919	.|.	.|.	ENSG00000197045|ENSG00000197045	ENST00000358056|ENST00000354747;ENST00000553333	T|.	0.37584|.	1.19|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.060297|0.060297	0.64402|0.64402	D|D	0.000005|0.000005	T|.	0.79667|.	0.4485|.	M|M	0.93978|0.93978	3.48|3.48	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79371|.	-0.1831|.	8|.	0.87932|0.02654	D|T	0|1	1.2545|1.2545	14.3343|14.3343	0.66578|0.66578	0.0:0.0:0.8517:0.1483|0.0:0.0:0.8517:0.1483	.|.	.|.	.|.	.|.	C|X	67|67;79	ENSP00000350757:R67C|.	ENSP00000350757:R67C|ENSP00000346789:R67X	R|R	-|-	1|1	0|2	GMFB|GMFB	54017878|54017878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.594000|6.594000	0.74104|0.74104	2.672000|2.672000	0.90937|0.90937	0.585000|0.585000	0.79938|0.79938	CGC|CGA		0.363	GMFB-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276903.2	NM_004124	Missense_Mutation	A	54948128	G	A	54948128	5	1	221	1	0	0	0	0	0	0	1	0	6491	1072	37	1	245	1	GMFB	14	54948128	Splice_Site	SNP	G	TCGA-B0-5703-01A-11D-1534-10		54948128	52401412	50	13394											
KCNK10	54207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	88658594	88658594	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr14:88658594G>A	ENST00000340700.5	-	5	1278	c.827C>T	c.(826-828)aCg>aTg	p.T276M	KCNK10_ENST00000319231.5_Missense_Mutation_p.T281M|KCNK10_ENST00000312350.5_Missense_Mutation_p.T281M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	276					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.T281M(2)|p.T276M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AAAGCCCACCGTGGTCAGAGT	0.537																																																3	Substitution - Missense(3)	kidney(3)											102	111	108					14																	88658594		2203	4300	6503	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.827C>T	14.37:g.88658594G>A	ENSP00000343104:p.Thr276Met		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107577	0.94292	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.70282	-0.47;-0.47;-0.47	5.89	5.89	0.94794	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.92093	0.7494	H	0.99379	4.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.94948	0.8097	10	0.87932	D	0	.	20.248	0.98401	0.0:0.0:1.0:0.0	.	276;281;281	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	M	276;281;281	ENSP00000343104:T276M;ENSP00000310568:T281M;ENSP00000312811:T281M	ENSP00000310568:T281M	T	-	2	0	KCNK10	87728347	1.000000	0.71417	0.968000	0.41197	0.997000	0.91878	9.869000	0.99810	2.790000	0.95986	0.655000	0.94253	ACG		0.537	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		A	88658594	G	A	88658594	3	1	221	1	0	0	0	0	1	0	0	0	8061	1145	40	1	801	1	KCNK10	14	88658594	Missense_Mutation	SNP	G	TCGA-B0-5703-01A-11D-1534-10	33710466	88658594	18690946	51	13395											
CLMN	79789	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	95688029	95688029	+	Splice_Site	SNP	T	T	C	rs574353507		TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr14:95688029T>C	ENST00000298912.4	-	4	436	c.323A>G	c.(322-324)aAt>aGt	p.N108S		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	108	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.N108S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AACACTTACATTGCTATCTTC	0.423													T|||	1	0.000199681	0.0	0.0014	5008	,	,		21549	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											115	105	108					14																	95688029		2203	4300	6503	SO:0001630	splice_region_variant	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.324+1A>G	14.37:g.95688029T>C			B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645559	0.67358	.	.	ENSG00000165959	ENST00000298912;ENST00000555336;ENST00000555615	T;T;T	0.60171	0.21;0.21;0.21	5.19	4.04	0.47022	Calponin homology domain (5);	0.000000	0.44097	D	0.000484	T	0.63343	0.2503	L	0.37697	1.125	0.80722	D	1	D	0.67145	0.996	D	0.67103	0.949	T	0.61671	-0.7015	10	0.44086	T	0.13	.	11.2473	0.49004	0.0:0.0721:0.0:0.9279	.	108	Q96JQ2	CLMN_HUMAN	S	108;40;40	ENSP00000298912:N108S;ENSP00000451705:N40S;ENSP00000452525:N40S	ENSP00000298912:N108S	N	-	2	0	CLMN	94757782	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	5.551000	0.67274	0.915000	0.36847	0.459000	0.35465	AAT		0.423	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2		Missense_Mutation	C	95688029	T	C	95688029	5	2	221	1	0	0	0	0	0	0	1	0	3544	1507	52	3	2725	3	CLMN	14	95688029	Splice_Site	SNP	T	TCGA-B0-5703-01A-11D-1534-10	7029435	95688029	11661511	52	13396											
WDR25	79446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	100934461	100934461	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr14:100934461G>A	ENST00000335290.6	+	3	1152	c.926G>A	c.(925-927)aGt>aAt	p.S309N	WDR25_ENST00000554998.1_Missense_Mutation_p.S309N|WDR25_ENST00000542471.2_Missense_Mutation_p.S52N|WDR25_ENST00000402312.3_Missense_Mutation_p.S309N	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	309								p.S309N(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CGCATCCTCAGTGGTGGCTTT	0.642																																																1	Substitution - Missense(1)	kidney(1)											136	126	129					14																	100934461		2203	4300	6503	SO:0001583	missense	79446			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.926G>A	14.37:g.100934461G>A	ENSP00000334148:p.Ser309Asn		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031117	0.75504	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000542471	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	4.85	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.168845	0.34986	N	0.003530	D	0.87341	0.6153	H	0.94964	3.605	0.26641	N	0.972289	P;D	0.76494	0.952;0.999	P;D	0.70487	0.724;0.969	T	0.82566	-0.0393	10	0.87932	D	0	-13.8988	13.5345	0.61641	0.0:0.1576:0.8424:0.0	.	52;309	Q64LD2-2;Q64LD2	.;WDR25_HUMAN	N	309;309;309;52	ENSP00000450661:S309N;ENSP00000385540:S309N;ENSP00000334148:S309N;ENSP00000441903:S52N	ENSP00000334148:S309N	S	+	2	0	WDR25	100004214	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	4.240000	0.58701	2.416000	0.81992	0.555000	0.69702	AGT		0.642	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		A	100934461	G	A	100934461	3	1	221	1	0	0	0	0	1	0	0	0	17287	1029	36	2	932	2	WDR25	14	100934461	Missense_Mutation	SNP	G	TCGA-B0-5703-01A-11D-1534-10	5246432	100934461	6415079	53	13397											
TLE3	7090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	70351055	70351055	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr15:70351055A>T	ENST00000558939.1	-	11	2242	c.865T>A	c.(865-867)Tcg>Acg	p.S289T	TLE3_ENST00000560589.1_Missense_Mutation_p.S233T|TLE3_ENST00000560939.1_Missense_Mutation_p.S294T|TLE3_ENST00000539550.1_Missense_Mutation_p.S233T|TLE3_ENST00000558201.1_Missense_Mutation_p.S295T|TLE3_ENST00000317509.8_Missense_Mutation_p.S289T|TLE3_ENST00000559048.1_Missense_Mutation_p.S294T|TLE3_ENST00000557997.1_Missense_Mutation_p.S289T|TLE3_ENST00000451782.2_Missense_Mutation_p.S289T|TLE3_ENST00000558379.1_Missense_Mutation_p.S289T|TLE3_ENST00000557907.1_Missense_Mutation_p.S289T|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559929.1_Missense_Mutation_p.S299T|TLE3_ENST00000442299.2_Missense_Mutation_p.S289T|TLE3_ENST00000440567.3_Missense_Mutation_p.S282T	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	289	Pro/Ser-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S289T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAGGCCACCGAGGCAGGGCTG	0.632																																																1	Substitution - Missense(1)	kidney(1)											28	31	30					15																	70351055		1926	4120	6046	SO:0001583	missense	7090			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.865T>A	15.37:g.70351055A>T	ENSP00000452871:p.Ser289Thr		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982772	0.74474	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.55930	0.72;0.73;0.82;0.74;0.49	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.79693	2.465	0.80722	D	1	P;B;P;B;P;B;P;D	0.55800	0.904;0.083;0.69;0.047;0.552;0.117;0.57;0.973	P;B;B;B;B;B;P;P	0.57720	0.812;0.033;0.248;0.023;0.209;0.42;0.543;0.826	T	0.73372	-0.4003	10	0.51188	T	0.08	-1.8949	15.6681	0.77247	1.0:0.0:0.0:0.0	.	282;289;289;289;289;289;294;233	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	T	289;289;289;282;233	ENSP00000390007:S289T;ENSP00000394717:S289T;ENSP00000319233:S289T;ENSP00000415057:S282T;ENSP00000442594:S233T	ENSP00000319233:S289T	S	-	1	0	TLE3	68138109	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	9.028000	0.93712	2.288000	0.76882	0.533000	0.62120	TCG		0.632	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		T	70351055	A	T	70351055	3	4	221	1	0	0	0	0	1	0	0	0	15945	304	11	5	1493	5	TLE3	15	70351055	Missense_Mutation	SNP	A	TCGA-B0-5703-01A-11D-1534-10		70351055	32180337	54	13398											
CRAMP1L	57585	broad.mit.edu	37	16	1706867	1706867	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr16:1706867delG	ENST00000397412.3	+	10	2208	c.2109delG	c.(2107-2109)ctgfs	p.L703fs	CRAMP1L_ENST00000436138.3_Frame_Shift_Del_p.L700fs|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Frame_Shift_Del_p.L703fs|CRAMP1L_ENST00000262317.4_Frame_Shift_Del_p.L81fs			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	703						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AGCTGCAGCTGGAGTACGACT	0.677																																																0													4	5	4					16																	1706867		1840	3916	5756	SO:0001589	frameshift_variant	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2109delG	16.37:g.1706867delG	ENSP00000380559:p.Leu703fs		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Frame_Shift_Del	DEL	ENST00000397412.3	37	CCDS10440.2																																																																																				0.677	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			-	1706867	G	-	1706867	7	5	221	1	0	1	0	1	0	0	0	0	3848	1335	47	0	2143	0	CRAMP1L	16	1706867	Frame_Shift_Del	DEL	G	TCGA-B0-5703-01A-11D-1534-10		1706867	88647886	55	13399											
DNAH3	55567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21136611	21136611	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr16:21136611G>C	ENST00000261383.3	-	9	1288	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Nonsense_Mutation_p.S430*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	430	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S430*(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTTCGACTTGAGTCATAGTT	0.483																																																2	Substitution - Nonsense(2)	kidney(2)											120	118	119					16																	21136611		2201	4300	6501	SO:0001587	stop_gained	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1289C>G	16.37:g.21136611G>C	ENSP00000261383:p.Ser430*		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154022	0.78114	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	.	.	.	5.75	5.75	0.90469	.	0.813239	0.11189	N	0.590121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.7237	0.91705	0.0:0.0:1.0:0.0	.	.	.	.	X	430;430;401	.	ENSP00000261383:S430X	S	-	2	0	DNAH3	21044112	1.000000	0.71417	0.151000	0.22473	0.029000	0.11900	4.532000	0.60608	2.725000	0.93324	0.655000	0.94253	TCA		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		C	21136611	G	C	21136611	4	2	221	1	0	0	0	0	0	1	0	0	4605	1294	45	4	11276	4	DNAH3	16	21136611	Nonsense_Mutation	SNP	G	TCGA-B0-5703-01A-11D-1534-10	19429744	21136611	69218142	56	13400											
CCDC102A	92922	broad.mit.edu	37	16	57552045	57552047	+	In_Frame_Del	DEL	GCC	GCC	-	rs201936316		TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	GCC	GCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr16:57552045_57552047delGCC	ENST00000258214.2	-	6	1427_1429	c.1181_1183delGGC	c.(1180-1185)cggcaa>caa	p.R394del		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	394										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTGGCTGTTTGCCGCCGCCGCCG	0.68																																																0																																										SO:0001651	inframe_deletion	92922			BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1181_1183delGGC	16.37:g.57552054_57552056delGCC	ENSP00000258214:p.Arg394del		Q9BT74	In_Frame_Del	DEL	ENST00000258214.2	37	CCDS10784.1																																																																																				0.68	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		-	57552047	GCC	-	57552045	7	5	221	1	0	1	0	1	0	0	0	0	2738	1328	46	0	485	0	CCDC102A	16	57552045	In_Frame_Del	DEL	GCC	TCGA-B0-5703-01A-11D-1534-10	36415434	57552045	32802708	57	13401											
NFATC3	4775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68160480	68160480	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr16:68160480delA	ENST00000346183.3	+	3	1392	c.1368delA	c.(1366-1368)gtafs	p.V456fs	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Frame_Shift_Del_p.V456fs|NFATC3_ENST00000329524.4_Frame_Shift_Del_p.V456fs|NFATC3_ENST00000349223.5_Frame_Shift_Del_p.V456fs	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	456	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GAGGGGCAGTAAAAGCATCTA	0.423																																																0													90	84	86					16																	68160480		2198	4300	6498	SO:0001589	frameshift_variant	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1368delA	16.37:g.68160480delA	ENSP00000300659:p.Val456fs		O75211|Q14516|Q99840|Q99841|Q99842	Frame_Shift_Del	DEL	ENST00000346183.3	37	CCDS10860.1																																																																																				0.423	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		-	68160480	A	-	68160480	7	5	221	1	0	1	0	1	0	0	0	0	10366	349	13	0	1378	0	NFATC3	16	68160480	Frame_Shift_Del	DEL	A	TCGA-B0-5703-01A-11D-1534-10	10608435	68160480	22194273	58	13402											
MYH2	4620	broad.mit.edu;hgsc.bcm.edu	37	17	10429940	10429940	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr17:10429940C>T	ENST00000245503.5	-	30	4547	c.4163G>A	c.(4162-4164)cGc>cAc	p.R1388H	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1388H|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1388					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)	p.R1388H(2)		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						CTCCTCTGTGCGCTGGATGGC	0.512																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)											175	162	166					17																	10429940		2203	4300	6503	SO:0001583	missense	4620				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.4163G>A	17.37:g.10429940C>T	ENSP00000245503:p.Arg1388His		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504663	0.96371	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80480	-1.38;-1.38	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.40144	U	0.001162	D	0.91402	0.7287	M	0.89030	3	0.58432	D	0.999997	D	0.89917	1.0	D	0.74023	0.982	D	0.92664	0.6144	10	0.87932	D	0	.	18.9148	0.92501	0.0:1.0:0.0:0.0	.	1388	Q9UKX2	MYH2_HUMAN	H	1388	ENSP00000245503:R1388H;ENSP00000380367:R1388H	ENSP00000245503:R1388H	R	-	2	0	MYH2	10370665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.703000	0.92315	0.655000	0.94253	CGC		0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		T	10429940	C	T	10429940	3	4	221	1	0	0	0	0	1	0	0	0	10037	768	27	1	1706	1	MYH2	17	10429940	Missense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10		10429940	70765270	59	13403											
MFAP4	4239	hgsc.bcm.edu;ucsc.edu	37	17	19288733	19288734	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr17:19288733_19288734delAA	ENST00000299610.4	-	4	358_359	c.274_275delTT	c.(274-276)ttcfs	p.F93fs	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Frame_Shift_Del_p.F118fs|MFAP4_ENST00000395592.2_Frame_Shift_Del_p.F117fs	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	93	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCCGCGGAAGAAACTTACTGAG	0.574																																																0																																										SO:0001589	frameshift_variant	4239			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"Fibrinogen C domain containing"	7035	protein-coding gene	gene with protein product	"microfibril-associated glycoprotein 4"	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.274_275delTT	17.37:g.19288733_19288734delAA	ENSP00000299610:p.Phe93fs		A8KAJ1|A8MVM2|B4E317|Q6P680	Frame_Shift_Del	DEL	ENST00000299610.4	37	CCDS11208.1																																																																																				0.574	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		-	19288734	AA	-	19288733	7	5	221	1	0	1	0	1	0	0	0	0	9519	246	9	0	504	0	MFAP4	17	19288733	Frame_Shift_Del	DEL	AA	TCGA-B0-5703-01A-11D-1534-10	8858793	19288733	61906477	60	13404											
ALDH3A1	218	broad.mit.edu	37	17	19641666	19641666	+	Silent	SNP	C	C	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr17:19641666C>T	ENST00000457500.2	-	9	1646	c.1317G>A	c.(1315-1317)ctG>ctA	p.L439L	RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Silent_p.L375L|ALDH3A1_ENST00000494157.2_Silent_p.L366L|ALDH3A1_ENST00000225740.6_Silent_p.L439L|ALDH3A1_ENST00000444455.1_Silent_p.L439L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	439					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.L439L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		ATCTGACCTTCAGGCCTTCAT	0.632																																																1	Substitution - coding silent(1)	kidney(1)											66	71	69					17																	19641666		2203	4300	6503	SO:0001819	synonymous_variant	218			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1317G>A	17.37:g.19641666C>T			A8K828|Q9BT37	Silent	SNP	ENST00000457500.2	37	CCDS11212.1																																																																																				0.632	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		T	19641666	C	T	19641666	2	4	221	1	0	0	0	0	0	0	0	1	497	813	29	2		2	ALDH3A1	17	19641666	Silent	SNP	C	TCGA-B0-5703-01A-11D-1534-10	352933	19641666	61553544	61	13405											
ERAL1	26284	broad.mit.edu;ucsc.edu	37	17	27182269	27182269	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr17:27182269T>C	ENST00000254928.5	+	1	314	c.217T>C	c.(217-219)Ttc>Ctc	p.F73L	FAM222B_ENST00000583953.1_5'Flank|ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	73					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.F73L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CCTGGACCACTTCCTCGGATT	0.627																																																1	Substitution - Missense(1)	kidney(1)											43	44	44					17																	27182269		2203	4300	6503	SO:0001583	missense	26284			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.217T>C	17.37:g.27182269T>C	ENSP00000254928:p.Phe73Leu		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	CCDS11244.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306837	0.23821	.	.	ENSG00000132591	ENST00000254928	.	.	.	5.25	3.0	0.34707	.	0.252133	0.37304	N	0.002142	T	0.21550	0.0519	L	0.29908	0.895	0.25115	N	0.990682	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.31138	-0.9954	9	0.02654	T	1	-15.4598	4.3953	0.11360	0.1786:0.0929:0.0:0.7285	.	73;73	O75616;O75616-2	ERAL1_HUMAN;.	L	73	.	ENSP00000254928:F73L	F	+	1	0	ERAL1	24206395	0.856000	0.29760	0.937000	0.37676	0.073000	0.16967	0.745000	0.26259	0.426000	0.26116	-0.411000	0.06167	TTC		0.627	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			C	27182269	T	C	27182269	3	2	221	1	0	0	0	0	1	0	0	0	5204	1609	56	3	219	3	ERAL1	17	27182269	Missense_Mutation	SNP	T	TCGA-B0-5703-01A-11D-1534-10	7540603	27182269	54012941	62	13406											
C17orf75	64149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30660439	30660439	+	Silent	SNP	T	T	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr17:30660439T>C	ENST00000577809.1	-	9	1021	c.972A>G	c.(970-972)ctA>ctG	p.L324L	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Silent_p.L324L	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	324								p.L324L(1)		ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TAATTACCTTTAGTTTAAAGT	0.373																																																1	Substitution - coding silent(1)	kidney(1)											113	111	112					17																	30660439		1823	4076	5899	SO:0001819	synonymous_variant	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.972A>G	17.37:g.30660439T>C			Q7Z2H4	Silent	SNP	ENST00000577809.1	37	CCDS58537.1																																																																																				0.373	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		C	30660439	T	C	30660439	2	2	221	1	0	0	0	0	0	0	0	1	1882	1741	61	3		3	C17orf75	17	30660439	Silent	SNP	T	TCGA-B0-5703-01A-11D-1534-10	3478170	30660439	50534771	63	13407											
UNC45B	146862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33477188	33477188	+	Silent	SNP	G	G	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr17:33477188G>A	ENST00000268876.5	+	4	424	c.327G>A	c.(325-327)cgG>cgA	p.R109R	UNC45B_ENST00000591048.1_Silent_p.R109R|UNC45B_ENST00000433649.1_Silent_p.R109R|UNC45B_ENST00000394570.2_Silent_p.R109R|UNC45B_ENST00000378449.1_Silent_p.R109R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	109					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R109R(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCGAGCCACGGAACCAGAACT	0.602																																																1	Substitution - coding silent(1)	kidney(1)											99	84	89					17																	33477188		2203	4300	6503	SO:0001819	synonymous_variant	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.327G>A	17.37:g.33477188G>A			Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																				0.602	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		A	33477188	G	A	33477188	2	1	221	1	0	0	0	0	0	0	0	1	16994	1161	41	2		2	UNC45B	17	33477188	Silent	SNP	G	TCGA-B0-5703-01A-11D-1534-10	2816749	33477188	47718022	64	13408											
CACNA1G	8913	hgsc.bcm.edu	37	17	48692779	48692787	+	In_Frame_Del	DEL	ACTTGTGCA	ACTTGTGCA	-	rs200825775	byFrequency	TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	ACTTGTGCA	ACTTGTGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr17:48692779_48692787delACTTGTGCA	ENST00000359106.5	+	27	4817_4825	c.4817_4825delACTTGTGCA	c.(4816-4827)cacttgtgcacc>ccc	p.1606_1609HLCT>P	CACNA1G_ENST00000513964.1_In_Frame_Del_p.1561_1564HLCT>P|CACNA1G_ENST00000507609.1_In_Frame_Del_p.1606_1609HLCT>P|CACNA1G_ENST00000502264.1_In_Frame_Del_p.1583_1586HLCT>P|CACNA1G_ENST00000513689.2_In_Frame_Del_p.1561_1564HLCT>P|CACNA1G_ENST00000507336.1_In_Frame_Del_p.1595_1598HLCT>P|CACNA1G_ENST00000503485.1_In_Frame_Del_p.1572_1575HLCT>P|CACNA1G_ENST00000507896.1_In_Frame_Del_p.1595_1598HLCT>P|CACNA1G_ENST00000510115.1_In_Frame_Del_p.1572_1575HLCT>P|CACNA1G_ENST00000510366.1_In_Frame_Del_p.1554_1557HLCT>P|CACNA1G_ENST00000514717.1_In_Frame_Del_p.1549_1552HLCT>P|CACNA1G_ENST00000429973.2_In_Frame_Del_p.1588_1591HLCT>P|CACNA1G_ENST00000360761.4_In_Frame_Del_p.1583_1586HLCT>P|CACNA1G_ENST00000352832.5_In_Frame_Del_p.1572_1575HLCT>P|CACNA1G_ENST00000514181.1_In_Frame_Del_p.1588_1591HLCT>P|CACNA1G_ENST00000514079.1_In_Frame_Del_p.1613_1616HLCT>P|CACNA1G_ENST00000515165.1_In_Frame_Del_p.1606_1609HLCT>P|CACNA1G_ENST00000442258.2_In_Frame_Del_p.1565_1568HLCT>P|CACNA1G_ENST00000358244.5_In_Frame_Del_p.1572_1575HLCT>P|CACNA1G_ENST00000505165.1_In_Frame_Del_p.1606_1609HLCT>P|CACNA1G_ENST00000515765.1_In_Frame_Del_p.1595_1598HLCT>P|CACNA1G_ENST00000512389.1_In_Frame_Del_p.1595_1598HLCT>P|CACNA1G_ENST00000354983.4_In_Frame_Del_p.1572_1575HLCT>P|CACNA1G_ENST00000515411.1_In_Frame_Del_p.1588_1591HLCT>P|CACNA1G_ENST00000507510.2_In_Frame_Del_p.1606_1609HLCT>P	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1606					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCGTCCACCACTTGTGCACCAGCCACTA	0.612																																																0																																										SO:0001651	inframe_deletion	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4817_4825delACTTGTGCA	17.37:g.48692779_48692787delACTTGTGCA	ENSP00000352011:p.His1606_Thr1609delinsPro		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	In_Frame_Del	DEL	ENST00000359106.5	37	CCDS45730.1																																																																																				0.612	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		-	48692787	ACTTGTGCA	-	48692779	7	5	221	1	0	1	0	1	0	0	0	0	2546	159	6	0	5190	0	CACNA1G	17	48692779	In_Frame_Del	DEL	ACTTGTGCA	TCGA-B0-5703-01A-11D-1534-10	15215591	48692779	32502431	65	13409											
DNAH17	9489	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76421493	76421493	+	IGR	SNP	T	T	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr17:76421493T>C	ENST00000262764.6	+	0	2201				DNAH17_ENST00000585328.1_Missense_Mutation_p.K4354E|AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000389840.5_Missense_Mutation_p.K4382E|DNAH17_ENST00000586052.1_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)	p.K4354E(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCTCGGTTTTTCTTGGTCACC	0.567																																					Esophageal Squamous(45;182 1126 10685 43198)											1	Substitution - Missense(1)	kidney(1)											126	123	124					17																	76421493		2203	4300	6503	SO:0001628	intergenic_variant	8632				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76421493T>C			B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.761507	0.89932	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.09630	2.96	4.85	4.85	0.62838	.	0.302640	0.27961	N	0.017158	T	0.33059	0.0850	M	0.73598	2.24	0.48830	D	0.999716	D	0.76494	0.999	D	0.76071	0.987	T	0.08166	-1.0735	10	0.72032	D	0.01	.	14.6095	0.68507	0.0:0.0:0.0:1.0	.	4354	E7EUM8	.	E	4354;4382	ENSP00000374490:K4382E	ENSP00000300671:K4354E	K	-	1	0	DNAH17	73933088	1.000000	0.71417	0.993000	0.49108	0.792000	0.44763	7.765000	0.85310	2.027000	0.59764	0.482000	0.46254	AAA		0.567	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		C	76421493	T	C	76421493	1	2	221	0	1	0	0	0	0	0	0	0	4603	1792	62	3		3	DNAH17	17	76421493	IGR	SNP	T	TCGA-B0-5703-01A-11D-1534-10	27728714	76421493	4773717	66	13410											
PLIN4	729359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4510945	4510945	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr19:4510945T>A	ENST00000301286.3	-	3	2984	c.2985A>T	c.(2983-2985)aaA>aaT	p.K995N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	995						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.K995N(1)|p.K923N(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGACGGCCCCTTTGGCCATGC	0.627																																																2	Substitution - Missense(2)	kidney(2)											47	50	49					19																	4510945		1994	4157	6151	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2985A>T	19.37:g.4510945T>A	ENSP00000301286:p.Lys995Asn		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003617	0.35320	.	.	ENSG00000167676	ENST00000301286	T	0.06449	3.3	4.9	-0.109	0.13584	.	0.155567	0.29572	N	0.011780	T	0.13884	0.0336	L	0.59436	1.845	0.27177	N	0.96077	D	0.62365	0.991	P	0.61477	0.889	T	0.03933	-1.0991	10	0.54805	T	0.06	-0.3272	7.8921	0.29684	0.0:0.3545:0.0:0.6455	.	995	Q96Q06	PLIN4_HUMAN	N	995	ENSP00000301286:K995N	ENSP00000301286:K995N	K	-	3	2	PLIN4	4461945	0.000000	0.05858	0.373000	0.26003	0.039000	0.13416	-1.363000	0.02592	-0.365000	0.08076	0.418000	0.28097	AAA		0.627	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		A	4510945	T	A	4510945	3	1	221	1	0	0	0	0	1	0	0	0	12094	1606	56	5	1104	5	PLIN4	19	4510945	Missense_Mutation	SNP	T	TCGA-B0-5703-01A-11D-1534-10		4510945	54618038	67	13411											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9000513	9000513	+	Missense_Mutation	SNP	G	G	C	rs541610415	byFrequency	TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr19:9000513G>C	ENST00000397910.4	-	54	40674	c.40471C>G	c.(40471-40473)Cgg>Ggg	p.R13491G	MUC16_ENST00000380951.5_Missense_Mutation_p.R132G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13493	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R13491G(1)|p.R176G(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTCATACCGCAGGTTAGTG	0.473																																																2	Substitution - Missense(2)	kidney(2)											185	155	164					19																	9000513		1960	4141	6101	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40471C>G	19.37:g.9000513G>C	ENSP00000381008:p.Arg13491Gly		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.085|7.085	0.571076|0.571076	0.13623|0.13623	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.28666	.|1.6;1.6	2.9|2.9	-3.02|-3.02	0.05446|0.05446	.|SEA (3);	.|.	.|.	.|.	.|.	T|T	0.27098|0.27098	0.0664|0.0664	N|N	0.22421|0.22421	0.69|0.69	.|.	.|.	.|.	.|B;D	.|0.60575	.|0.0;0.988	.|B;D	.|0.74674	.|0.001;0.984	T|T	0.28808|0.28808	-1.0032|-1.0032	4|8	.|0.17369	.|T	.|0.5	0.5079|0.5079	0.6463|0.6463	0.00819|0.00819	0.2477:0.1863:0.3758:0.1902|0.2477:0.1863:0.3758:0.1902	.|.	.|21136;13491	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	W|G	330|13491;132	.|ENSP00000381008:R13491G;ENSP00000370338:R132G	.|ENSP00000370338:R132G	C|R	-|-	3|1	2|2	MUC16|MUC16	8861513|8861513	0.004000|0.004000	0.15560|0.15560	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.202000|-0.202000	0.09451|0.09451	-0.609000|-0.609000	0.05724|0.05724	-0.727000|-0.727000	0.03589|0.03589	TGC|CGG		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9000513	G	C	9000513	3	2	221	1	0	0	0	0	1	0	0	0	9975	1086	38	4	3176	4	MUC16	19	9000513	Missense_Mutation	SNP	G	TCGA-B0-5703-01A-11D-1534-10	4489568	9000513	50128470	68	13412											
SUPT5H	6829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39965287	39965287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr19:39965287C>T	ENST00000599117.1	+	29	3320	c.2953C>T	c.(2953-2955)Cag>Tag	p.Q985*	SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q981*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.Q981*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q985*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q985*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	985					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.Q985*(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACTGACATTCAGGTGAAGGT	0.612																																																1	Substitution - Nonsense(1)	kidney(1)											71	58	62					19																	39965287		2203	4300	6503	SO:0001587	stop_gained	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2953C>T	19.37:g.39965287C>T	ENSP00000470252:p.Gln985*		O43279|Q59G52|Q99639	Nonsense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	41	8.701800	0.98920	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.45	4.45	0.53987	.	0.140552	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.6887	16.0174	0.80450	0.0:1.0:0.0:0.0	.	.	.	.	X	985;981;963;985	.	.	Q	+	1	0	SUPT5H	44657127	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.567000	0.53813	2.293000	0.77203	0.462000	0.41574	CAG		0.612	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		T	39965287	C	T	39965287	4	4	221	1	0	0	0	0	0	1	0	0	15404	827	29	2	3059	2	SUPT5H	19	39965287	Nonsense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10	30964774	39965287	19163696	69	13413											
SIRPB1	10326	broad.mit.edu;hgsc.bcm.edu	37	20	1552666	1552666	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr20:1552666C>T	ENST00000381605.4	-	3	515	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	151	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V151M(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCCGATACCACGGGGGCAGAG	0.527																																																1	Substitution - Missense(1)	kidney(1)											84	80	81					20																	1552666		2203	4300	6503	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.451G>A	20.37:g.1552666C>T	ENSP00000371018:p.Val151Met		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	5.492	0.275773	0.10403	.	.	ENSG00000101307	ENST00000381605	T	0.00642	6.02	2.51	-2.16	0.07080	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.579431	0.15277	N	0.270921	T	0.00356	0.0011	N	0.25201	0.72	0.09310	N	1	P	0.43542	0.81	B	0.24974	0.057	T	0.52238	-0.8602	10	0.36615	T	0.2	.	2.5645	0.04779	0.2266:0.3141:0.0:0.4592	.	151	O00241	SIRB1_HUMAN	M	151	ENSP00000371018:V151M	ENSP00000371018:V151M	V	-	1	0	SIRPB1	1500666	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	-3.630000	0.00409	-0.355000	0.08199	0.462000	0.41574	GTG		0.527	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		T	1552666	C	T	1552666	3	4	221	1	0	0	0	0	1	0	0	0	14339	536	19	1	757	1	SIRPB1	20	1552666	Missense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10		1552666	61472854	70	13414											
TOP1	7150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39741521	39741521	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr20:39741521A>G	ENST00000361337.2	+	14	1658	c.1408A>G	c.(1408-1410)Atg>Gtg	p.M470V	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	470					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.M470V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	GTCCAAAGAGATGAAAGTCCG	0.498			T	NUP98	AML*																																		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	1	Substitution - Missense(1)	kidney(1)											95	85	88					20																	39741521		2203	4300	6503	SO:0001583	missense	7150				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1408A>G	20.37:g.39741521A>G	ENSP00000354522:p.Met470Val		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602994	0.87157	.	.	ENSG00000198900	ENST00000361337	T	0.41400	1.0	5.6	5.6	0.85130	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	M	0.82323	2.585	0.80722	D	1	P	0.44090	0.826	B	0.40677	0.337	T	0.60475	-0.7256	10	0.59425	D	0.04	-20.135	15.7928	0.78380	1.0:0.0:0.0:0.0	.	470	P11387	TOP1_HUMAN	V	470	ENSP00000354522:M470V	ENSP00000354522:M470V	M	+	1	0	TOP1	39174935	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.128000	0.65567	0.528000	0.53228	ATG		0.498	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			G	39741521	A	G	39741521	3	3	221	1	0	0	0	0	1	0	0	0	16368	333	12	3	1462	3	TOP1	20	39741521	Missense_Mutation	SNP	A	TCGA-B0-5703-01A-11D-1534-10	38188855	39741521	23283999	71	13415											
CTSA	5476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44521907	44521907	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr20:44521907T>C	ENST00000372459.2	+	6	842	c.649T>C	c.(649-651)Tcc>Ccc	p.S217P	RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000354880.5_Missense_Mutation_p.S218P|CTSA_ENST00000191018.5_Missense_Mutation_p.S217P|NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000372484.3_Missense_Mutation_p.S235P			P10619	PPGB_HUMAN	cathepsin A	217					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)	p.S235P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GAATGACAACTCCCTGGTCTA	0.557																																																1	Substitution - Missense(1)	kidney(1)											144	122	130					20																	44521907		2203	4300	6503	SO:0001583	missense	5476			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"Cathepsins"	9251	protein-coding gene	gene with protein product	"carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase"	613111	"protective protein for beta-galactosidase (galactosialidosis)"	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.649T>C	20.37:g.44521907T>C	ENSP00000361537:p.Ser217Pro		B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	37	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455699	0.84209	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	5.21	4.04	0.47022	.	0.161093	0.56097	D	0.000021	D	0.96734	0.8934	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.998;0.999;0.962	D	0.96671	0.9496	10	0.56958	D	0.05	-13.3163	10.9715	0.47442	0.1398:0.0:0.0:0.8602	.	217;217;234	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	P	218;235;217;200;217	ENSP00000346952:S218P;ENSP00000361562:S235P;ENSP00000191018:S217P;ENSP00000408533:S200P;ENSP00000361537:S217P	ENSP00000191018:S217P	S	+	1	0	CTSA	43955314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.214000	0.72200	1.970000	0.57323	0.533000	0.62120	TCC		0.557	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		C	44521907	T	C	44521907	3	2	221	1	0	0	0	0	1	0	0	0	4031	1551	54	3	729	3	CTSA	20	44521907	Missense_Mutation	SNP	T	TCGA-B0-5703-01A-11D-1534-10	4780386	44521907	18503613	72	13416											
PMEPA1	56937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	56227136	56227136	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr20:56227136C>G	ENST00000341744.3	-	4	1156	c.837G>C	c.(835-837)aaG>aaC	p.K279N	PMEPA1_ENST00000395814.1_Missense_Mutation_p.K229N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.K244N|PMEPA1_ENST00000265626.4_Missense_Mutation_p.K229N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.K229N	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	279					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)	p.K279N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TCTGTTTATCCTTCTCTTTGC	0.622																																																1	Substitution - Missense(1)	kidney(1)											27	31	29					20																	56227136		2195	4287	6482	SO:0001583	missense	56937			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"solid tumor-associated 1"	606564	"transmembrane, prostate androgen induced RNA"	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.837G>C	20.37:g.56227136C>G	ENSP00000345826:p.Lys279Asn		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051447	0.36181	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814	T;T;T;T;T	0.53423	0.62;0.64;0.65;0.65;0.65	5.17	2.99	0.34606	.	0.074774	0.53938	D	0.000042	T	0.61527	0.2354	M	0.73962	2.25	0.46298	D	0.998975	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.62487	-0.6844	10	0.87932	D	0	-28.3745	4.2191	0.10549	0.0:0.4971:0.0:0.5029	.	244;279	Q5JY37;Q969W9	.;PMEPA_HUMAN	N	279;244;229;229;229	ENSP00000345826:K279N;ENSP00000344014:K244N;ENSP00000379161:K229N;ENSP00000265626:K229N;ENSP00000379159:K229N	ENSP00000265626:K229N	K	-	3	2	PMEPA1	55660542	1.000000	0.71417	0.979000	0.43373	0.039000	0.13416	1.756000	0.38390	1.168000	0.42723	-0.157000	0.13467	AAG		0.622	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		G	56227136	C	G	56227136	3	3	221	1	0	0	0	0	1	0	0	0	12134	680	24	4	30	4	PMEPA1	20	56227136	Missense_Mutation	SNP	C	TCGA-B0-5703-01A-11D-1534-10	11705229	56227136	6798384	73	13417											
PRAME	23532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	22893221	22893221	+	Silent	SNP	A	A	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr22:22893221A>C	ENST00000398741.1	-	4	618	c.312T>G	c.(310-312)ctT>ctG	p.L104L	PRAME_ENST00000543184.1_Silent_p.L104L|PRAME_ENST00000398743.2_Silent_p.L104L|PRAME_ENST00000424204.2_Silent_p.L88L|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000402697.1_Silent_p.L104L|PRAME_ENST00000406503.1_Silent_p.L104L|PRAME_ENST00000539862.1_Silent_p.L88L|PRAME_ENST00000405655.3_Silent_p.L104L	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	104					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|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)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.L104L(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GGAGCACATCAAGTCCATCAA	0.597																																					Melanoma(73;1707 1838 15168 27201)											1	Substitution - coding silent(1)	kidney(1)											138	113	121					22																	22893221		2203	4300	6503	SO:0001819	synonymous_variant	23532			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"-"	9336	protein-coding gene	gene with protein product	"cancer/testis antigen 130"	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.312T>G	22.37:g.22893221A>C			B2R6Y7|O43481|Q8IXN8	Silent	SNP	ENST00000398741.1	37	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	a	0.178	-1.064809	0.01934	.	.	ENSG00000185686	ENST00000438888	.	.	.	3.46	-6.92	0.01644	.	.	.	.	.	.	.	.	.	.	.	0.19575	N	0.999966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9186	0.41450	0.5203:0.3773:0.1024:0.0	.	.	.	.	G	128	.	.	X	-	1	0	PRAME	21223221	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.792000	0.00766	-3.481000	0.00155	-1.046000	0.02355	TGA		0.597	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		C	22893221	A	C	22893221	2	2	221	1	0	0	0	0	0	0	0	1	12429	117	5	5		5	PRAME	22	22893221	Silent	SNP	A	TCGA-B0-5703-01A-11D-1534-10		22893221	28411345	74	13418											
CRYBB1	1414	hgsc.bcm.edu	37	22	27012238	27012239	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr22:27012238_27012239insC	ENST00000215939.2	-	2	175_176	c.45_46insG	c.(43-48)gtgaacfs	p.N16fs		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	16	N-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGCCCTGGGTTCACCGCCACTG	0.629																																																0																																										SO:0001589	frameshift_variant	1414				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.46dupG	22.37:g.27012239_27012239dupC	ENSP00000215939:p.Asn16fs			Frame_Shift_Ins	INS	ENST00000215939.2	37	CCDS13840.1																																																																																				0.629	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		C	27012239	-	C	27012238	7	5	221	1	0	1	1	0	0	0	0	0	3912	1783	62	0	732	0	CRYBB1	22	27012238	Frame_Shift_Ins	INS	-	TCGA-B0-5703-01A-11D-1534-10	4119017	27012238	24292328	75	13419											
PIM3	415116	hgsc.bcm.edu;ucsc.edu	37	22	50356427	50356428	+	Frame_Shift_Ins	INS	-	-	C	rs139618660		TCGA-B0-5703-01A-11D-1534-10	TCGA-B0-5703-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	963400a2-d939-41a5-8c42-9fc3a04b8362	56994dd1-cfd6-4939-8c18-bbc52a633306	g.chr22:50356427_50356428insC	ENST00000360612.4	+	5	1142_1143	c.707_708insC	c.(706-711)tacgatfs	p.D237fs		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GTGCTTCTCTACGATATGGTGT	0.668																																																0																																										SO:0001589	frameshift_variant	415116			BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"pim-3 oncogene"			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.708dupC	22.37:g.50356428_50356428dupC	ENSP00000353824:p.Asp237fs		A5D8X8|A8K7J0|B1B0P0|Q68BM2	Frame_Shift_Ins	INS	ENST00000360612.4	37	CCDS33678.1																																																																																				0.668	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317406.1	NM_001001852		C	50356428	-	C	50356427	7	5	221	1	0	1	1	0	0	0	0	0	11931	391	14	0	725	0	PIM3	22	50356427	Frame_Shift_Ins	INS	-	TCGA-B0-5703-01A-11D-1534-10	23344189	50356427	948139	76	13420											
NOC2L	26155	broad.mit.edu;hgsc.bcm.edu	37	1	888619	888619	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:888619G>T	ENST00000327044.6	-	9	987	c.938C>A	c.(937-939)gCt>gAt	p.A313D	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	313					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.A313D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GACCAGGAAAGCCAGCACCCG	0.607																																																1	Substitution - Missense(1)	kidney(1)											76	65	69					1																	888619		2203	4300	6503	SO:0001583	missense	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.938C>A	1.37:g.888619G>T	ENSP00000317992:p.Ala313Asp		Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256378	0.80246	.	.	ENSG00000188976	ENST00000327044	T	0.67865	-0.29	5.19	5.19	0.71726	Armadillo-type fold (1);	0.121836	0.53938	D	0.000043	D	0.83050	0.5170	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.71184	0.972;0.972;0.972	D	0.85930	0.1451	10	0.87932	D	0	-30.348	17.6817	0.88245	0.0:0.0:1.0:0.0	.	313;313;80	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	D	313	ENSP00000317992:A313D	ENSP00000317992:A313D	A	-	2	0	NOC2L	878482	1.000000	0.71417	0.995000	0.50966	0.510000	0.34073	9.279000	0.95777	2.395000	0.81488	0.561000	0.74099	GCT		0.607	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		T	888619	G	T	888619	3	4	222	1	0	0	0	0	1	0	0	0	10515	971	34	4	1355	4	NOC2L	1	888619	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10		888619	248362002	1	13421											
PLCH2	9651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	2435907	2435907	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:2435907G>A	ENST00000419816.2	+	22	3780	c.3506G>A	c.(3505-3507)cGt>cAt	p.R1169H	PLCH2_ENST00000378486.3_Missense_Mutation_p.R1169H|PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1133H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1169					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.R1169H(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGCCGCAGCCGTGAGAACCTC	0.667																																																1	Substitution - Missense(1)	kidney(1)											34	41	38					1																	2435907		2130	4211	6341	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3506G>A	1.37:g.2435907G>A	ENSP00000389803:p.Arg1169His		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.431|9.431	1.085670|1.085670	0.20390|0.20390	.|.	.|.	ENSG00000149527|ENSG00000149527	ENST00000378486;ENST00000378488;ENST00000278878|ENST00000419816	T;T|.	0.24350|.	1.99;1.86|.	3.6|3.6	3.6|3.6	0.41247|0.41247	.|.	3.642240|.	0.00888|.	N|.	0.002208|.	T|T	0.26882|0.26882	0.0658|0.0658	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999998|0.999998	D;P|.	0.57257|.	0.979;0.955|.	P;B|.	0.45474|.	0.482;0.288|.	T|T	0.15378|0.15378	-1.0439|-1.0439	10|5	0.30078|.	T|.	0.28|.	.|.	5.4835|5.4835	0.16737|0.16737	0.2585:0.0:0.7415:0.0|0.2585:0.0:0.7415:0.0	.|.	921;1169|.	B9DI82;O75038|.	.;PLCH2_HUMAN|.	H|M	1169;1133;921|464	ENSP00000367747:R1169H;ENSP00000367749:R1133H|.	ENSP00000278878:R921H|.	R|V	+|+	2|1	0|0	PLCH2|PLCH2	2425767|2425767	0.194000|0.194000	0.23325|0.23325	0.026000|0.026000	0.17262|0.17262	0.013000|0.013000	0.08279|0.08279	1.615000|1.615000	0.36922|0.36922	1.541000|1.541000	0.49316|0.49316	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.667	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		A	2435907	G	A	2435907	3	1	222	1	0	0	0	0	1	0	0	0	12040	1145	40	1	3592	1	PLCH2	1	2435907	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10	1547288	2435907	246814714	2	13422											
UBR4	23352	broad.mit.edu;ucsc.edu	37	1	19446815	19446815	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:19446815T>C	ENST00000375254.3	-	69	10196	c.10169A>G	c.(10168-10170)cAg>cGg	p.Q3390R	UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375226.2_Missense_Mutation_p.Q3366R|UBR4_ENST00000375267.2_Missense_Mutation_p.Q3390R|UBR4_ENST00000375217.2_Missense_Mutation_p.Q3383R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3390					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q3390R(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTGCACAGCTGGTCCTCCTG	0.532																																																1	Substitution - Missense(1)	kidney(1)											100	99	99					1																	19446815		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10169A>G	1.37:g.19446815T>C	ENSP00000364403:p.Gln3390Arg		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629844	0.67015	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64991	1.93;-0.13;1.94;1.94	5.5	5.5	0.81552	.	0.110232	0.64402	D	0.000006	T	0.64283	0.2584	N	0.19112	0.55	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.67650	-0.5616	10	0.56958	D	0.05	.	14.586	0.68326	0.0:0.0:0.0:1.0	.	3390	Q5T4S7	UBR4_HUMAN	R	3390;3390;3383;3366	ENSP00000364403:Q3390R;ENSP00000364416:Q3390R;ENSP00000364365:Q3383R;ENSP00000364374:Q3366R	ENSP00000364365:Q3383R	Q	-	2	0	UBR4	19319402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.302000	0.77476	0.533000	0.62120	CAG		0.532	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		C	19446815	T	C	19446815	3	2	222	1	0	0	0	0	1	0	0	0	16909	1580	55	3	5534	3	UBR4	1	19446815	Missense_Mutation	SNP	T	TCGA-B0-5705-01A-11D-1534-10	17010908	19446815	229803806	3	13423											
HSPG2	3339	hgsc.bcm.edu;ucsc.edu	37	1	22216599	22216600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:22216599_22216600insC	ENST00000374695.3	-	6	527_528	c.448_449insG	c.(448-450)gtgfs	p.V150fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	150	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TTCCGAGCCCACATCCAGCTCC	0.609																																																0																																										SO:0001589	frameshift_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.449dupG	1.37:g.22216600_22216600dupC	ENSP00000363827:p.Val150fs		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Ins	INS	ENST00000374695.3	37	CCDS30625.1																																																																																				0.609	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		C	22216600	-	C	22216599	7	5	222	1	0	1	1	0	0	0	0	0	7432	159	6	0	13094	0	HSPG2	1	22216599	Frame_Shift_Ins	INS	-	TCGA-B0-5705-01A-11D-1534-10	2769784	22216599	227034022	4	13424	101	2									
HSPG2	3339	hgsc.bcm.edu	37	1	22216602	22216602	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:22216602T>C	ENST00000374695.3	-	6	525	c.446A>G	c.(445-447)gAt>gGt	p.D149G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	149	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGAGCCCACATCCAGCTCCAC	0.612																																																0													152	136	141					1																	22216602		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.446A>G	1.37:g.22216602T>C	ENSP00000363827:p.Asp149Gly		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.32|16.32	3.091469|3.091469	0.55968|0.55968	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695;ENST00000439717|ENST00000412328	D;T|T	0.81499|0.46819	-1.5;-0.26|0.86	5.35|5.35	5.35|5.35	0.76521|0.76521	SEA (2);|.	0.423564|.	0.17270|.	N|.	0.180402|.	T|T	0.39784|0.39784	0.1091|0.1091	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999998|0.999998	D|B	0.67145|0.28933	0.996|0.228	P|B	0.60609|0.30855	0.877|0.121	T|T	0.34329|0.34329	-0.9833|-0.9833	10|9	0.87932|0.56958	D|D	0|0.05	.|.	13.3309|13.3309	0.60485|0.60485	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	149|72	P98160|Q5SZI5	PGBM_HUMAN|.	G|V	149;115|72	ENSP00000363827:D149G;ENSP00000395884:D115G|ENSP00000405412:M72V	ENSP00000363827:D149G|ENSP00000405412:M72V	D|M	-|-	2|1	0|0	HSPG2|HSPG2	22089189|22089189	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.828000|0.828000	0.46876|0.46876	5.411000|5.411000	0.66386|0.66386	2.251000|2.251000	0.74343|0.74343	0.482000|0.482000	0.46254|0.46254	GAT|ATG		0.612	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		C	22216602	T	C	22216602	3	2	222	1	0	0	0	0	1	0	0	0	7432	1435	50	3	13097	3	HSPG2	1	22216602	Missense_Mutation	SNP	T	TCGA-B0-5705-01A-11D-1534-10	3	22216602	227034019	5	13425	101	2									
OPRD1	4985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29185683	29185683	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:29185683G>A	ENST00000234961.2	+	2	687	c.445G>A	c.(445-447)Gct>Act	p.A149T		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	149					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)	p.A149T(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCGCTACATCGCTGTCTGCCA	0.577																																																1	Substitution - Missense(1)	kidney(1)											133	102	112					1																	29185683		2203	4300	6503	SO:0001583	missense	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.445G>A	1.37:g.29185683G>A	ENSP00000234961:p.Ala149Thr		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036598	0.93630	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.53423	0.62	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83747	0.0207	10	0.87932	D	0	.	14.8953	0.70639	0.0:0.0:1.0:0.0	.	149	P41143	OPRD_HUMAN	T	149	ENSP00000234961:A149T	ENSP00000234961:A149T	A	+	1	0	OPRD1	29058270	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	9.657000	0.98554	2.375000	0.81037	0.462000	0.41574	GCT		0.577	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		A	29185683	G	A	29185683	3	1	222	1	0	0	0	0	1	0	0	0	10886	1087	38	1	451	1	OPRD1	1	29185683	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10	6969081	29185683	220064938	6	13426											
INPP5B	3633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	38353034	38353034	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:38353034T>G	ENST00000373026.1	-	10	1243	c.1243A>C	c.(1243-1245)Aaa>Caa	p.K415Q	INPP5B_ENST00000373023.2_Missense_Mutation_p.K415Q|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.K171Q|INPP5B_ENST00000458109.2_Missense_Mutation_p.K98Q|INPP5B_ENST00000373024.3_Missense_Mutation_p.K335Q|RNU6-584P_ENST00000410350.1_RNA			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	415	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.K415Q(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTTGCATATTTGGCATCTGGA	0.428																																																1	Substitution - Missense(1)	kidney(1)											131	118	122					1																	38353034		1880	4121	6001	SO:0001583	missense	3633			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1243A>C	1.37:g.38353034T>G	ENSP00000362117:p.Lys415Gln		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37		.	.	.	.	.	.	.	.	.	.	T	18.75	3.690064	0.68271	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000458109	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	5.89	5.89	0.94794	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.043092	0.85682	D	0.000000	D	0.96402	0.8826	M	0.72118	2.19	0.51233	D	0.99991	D;D	0.67145	0.994;0.996	P;P	0.62491	0.903;0.844	D	0.95866	0.8887	10	0.40728	T	0.16	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	415;335	P32019;P32019-2	I5P2_HUMAN;.	Q	171;415;415;415;335;98	ENSP00000362118:K171Q;ENSP00000362114:K415Q;ENSP00000362117:K415Q;ENSP00000362115:K335Q;ENSP00000397748:K98Q	ENSP00000362114:K415Q	K	-	1	0	INPP5B	38125621	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	7.698000	0.84413	2.254000	0.74563	0.459000	0.35465	AAA		0.428	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		G	38353034	T	G	38353034	3	3	222	1	0	0	0	0	1	0	0	0	7757	1821	63	5	1794	5	INPP5B	1	38353034	Missense_Mutation	SNP	T	TCGA-B0-5705-01A-11D-1534-10	9167351	38353034	210897587	7	13427											
RNF220	55182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44878049	44878049	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:44878049C>A	ENST00000355387.2	+	2	730	c.280C>A	c.(280-282)Cac>Aac	p.H94N	RNF220_ENST00000372247.2_Missense_Mutation_p.H94N|RNF220_ENST00000361799.2_Missense_Mutation_p.H94N			Q5VTB9	RN220_HUMAN	ring finger protein 220	94					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H94N(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTCTCTACTACACCTCCACCC	0.527																																																2	Substitution - Missense(2)	kidney(2)											250	243	245					1																	44878049		2203	4300	6503	SO:0001583	missense	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.280C>A	1.37:g.44878049C>A	ENSP00000347548:p.His94Asn		B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	CCDS510.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840263	0.51057	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.9	5.9	0.94986	.	0.056024	0.64402	D	0.000001	T	0.69949	0.3168	L	0.29908	0.895	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.70171	-0.4945	9	0.62326	D	0.03	.	20.2861	0.98535	0.0:1.0:0.0:0.0	.	94	Q5VTB9	RN220_HUMAN	N	94	.	ENSP00000347548:H94N	H	+	1	0	RNF220	44650636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.800000	0.96347	0.655000	0.94253	CAC		0.527	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		A	44878049	C	A	44878049	3	1	222	1	0	0	0	0	1	0	0	0	13489	478	17	4	282	4	RNF220	1	44878049	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	6525015	44878049	204372572	8	13428											
PARS2	25973	broad.mit.edu	37	1	55224781	55224781	+	Missense_Mutation	SNP	G	G	T	rs374449269		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:55224781G>T	ENST00000371279.3	-	2	136	c.54C>A	c.(52-54)agC>agA	p.S18R		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	18					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.S18R(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGAGCTGGCGGCTGCAGGTGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											23	22	23					1																	55224781		2202	4297	6499	SO:0001583	missense	25973			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.54C>A	1.37:g.55224781G>T	ENSP00000360327:p.Ser18Arg		A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	CCDS597.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.567181	0.00895	.	.	ENSG00000162396	ENST00000371279	T	0.53857	0.6	4.55	1.61	0.23674	.	0.796070	0.11983	N	0.510608	T	0.33000	0.0848	L	0.27053	0.805	0.09310	N	1	B	0.34015	0.435	B	0.30782	0.12	T	0.14671	-1.0464	10	0.12430	T	0.62	-4.5122	8.4699	0.32980	0.2468:0.0:0.7532:0.0	.	18	Q7L3T8	SYPM_HUMAN	R	18	ENSP00000360327:S18R	ENSP00000360327:S18R	S	-	3	2	PARS2	54997369	0.008000	0.16893	0.074000	0.20217	0.011000	0.07611	0.068000	0.14531	0.138000	0.18790	0.467000	0.42956	AGC		0.602	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		T	55224781	G	T	55224781	3	4	222	1	0	0	0	0	1	0	0	0	11469	1194	42	4	1377	4	PARS2	1	55224781	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10	10346732	55224781	194025840	9	13429											
GBP2	2634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	89582840	89582840	+	Missense_Mutation	SNP	C	C	T	rs199744522		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:89582840C>T	ENST00000370466.3	-	6	971	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	235	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V235I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CAATCGAAGACGAAGCACTTC	0.428																																																1	Substitution - Missense(1)	kidney(1)						C	ILE/VAL	0,4406		0,0,2203	99	92	95		703	-3.3	0.1	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	GBP2	NM_004120.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	235/592	89582840	1,13005	2203	4300	6503	SO:0001583	missense	2634			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.703G>A	1.37:g.89582840C>T	ENSP00000359497:p.Val235Ile		Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	CCDS719.1	.	.	.	.	.	.	.	.	.	.	C	4.715	0.132919	0.09032	0.0	1.16E-4	ENSG00000162645	ENST00000370466	T	0.75260	-0.92	3.63	-3.32	0.04973	Guanylate-binding protein, N-terminal (1);	0.831285	0.10030	N	0.724830	T	0.27169	0.0666	N	0.05441	-0.05	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.26643	-1.0097	10	0.18276	T	0.48	-28.7554	11.2228	0.48866	0.0:0.6472:0.0:0.3528	.	235	P32456	GBP2_HUMAN	I	235	ENSP00000359497:V235I	ENSP00000359497:V235I	V	-	1	0	GBP2	89355428	0.000000	0.05858	0.094000	0.20943	0.011000	0.07611	-0.943000	0.03917	-0.837000	0.04223	-1.130000	0.01982	GTC		0.428	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		T	89582840	C	T	89582840	3	4	222	1	0	0	0	0	1	0	0	0	6276	536	19	1	1096	1	GBP2	1	89582840	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	34358059	89582840	159667781	10	13430											
PHTF1	10745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	114267480	114267480	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:114267480C>G	ENST00000369604.1	-	7	1007	c.524G>C	c.(523-525)cGa>cCa	p.R175P	PHTF1_ENST00000369600.1_Missense_Mutation_p.R122P|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000447664.2_Missense_Mutation_p.R175P|PHTF1_ENST00000393357.2_Missense_Mutation_p.R175P|PHTF1_ENST00000357783.2_Missense_Mutation_p.R175P|PHTF1_ENST00000369596.2_Missense_Mutation_p.R122P			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	175					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R175P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCATTTTCTCGGCTCCCATC	0.343																																																1	Substitution - Missense(1)	kidney(1)											77	76	76					1																	114267480		2203	4300	6503	SO:0001583	missense	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.524G>C	1.37:g.114267480C>G	ENSP00000358617:p.Arg175Pro		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	CCDS861.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247966	0.59103	.	.	ENSG00000116793	ENST00000393357;ENST00000369596;ENST00000369600;ENST00000369604;ENST00000357783;ENST00000447664	.	.	.	5.14	4.23	0.50019	.	0.468058	0.22144	N	0.064014	T	0.16685	0.0401	N	0.24115	0.695	0.28098	N	0.931543	P;P	0.46621	0.811;0.881	B;P	0.48873	0.231;0.593	T	0.03086	-1.1074	9	0.52906	T	0.07	-7.1421	8.8107	0.34965	0.0:0.7689:0.1494:0.0817	.	175;175	Q9UMS5;Q9UMS5-2	PHTF1_HUMAN;.	P	175;122;122;175;175;175	.	ENSP00000350428:R175P	R	-	2	0	PHTF1	114069003	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.686000	0.37669	1.318000	0.45170	-0.244000	0.11960	CGA		0.343	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		G	114267480	C	G	114267480	3	3	222	1	0	0	0	0	1	0	0	0	11864	884	31	4	1816	4	PHTF1	1	114267480	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	24684640	114267480	134983141	11	13431											
SMG5	23381	broad.mit.edu;hgsc.bcm.edu	37	1	156243168	156243168	+	Silent	SNP	T	T	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:156243168T>A	ENST00000361813.5	-	6	762	c.618A>T	c.(616-618)tcA>tcT	p.S206S	SMG5_ENST00000368267.5_Silent_p.S206S	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	206					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.S206S(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GAGGAGCTACTGACAGGGCTT	0.483																																																1	Substitution - coding silent(1)	kidney(1)											94	90	91					1																	156243168		2203	4300	6503	SO:0001819	synonymous_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.618A>T	1.37:g.156243168T>A			D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	CCDS1137.1																																																																																				0.483	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		A	156243168	T	A	156243168	2	1	222	1	0	0	0	0	0	0	0	1	14802	1567	55	5		5	SMG5	1	156243168	Silent	SNP	T	TCGA-B0-5705-01A-11D-1534-10	41975688	156243168	93007453	12	13432											
CRB1	23418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197446956	197446956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:197446956C>T	ENST00000367400.3	+	12	4303	c.4168C>T	c.(4168-4170)Cga>Tga	p.R1390*	CRB1_ENST00000544212.1_Nonsense_Mutation_p.R871*|CRB1_ENST00000535699.1_Nonsense_Mutation_p.R1366*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.R1278*|CRB1_ENST00000538660.1_Nonsense_Mutation_p.R854*	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1390					cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1390*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGAGGGCTCCCGAGTGGAAAT	0.532																																																1	Substitution - Nonsense(1)	kidney(1)											98	98	98					1																	197446956		2203	4300	6503	SO:0001587	stop_gained	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.4168C>T	1.37:g.197446956C>T	ENSP00000356370:p.Arg1390*		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Nonsense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	39	7.517980	0.98332	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212	.	.	.	5.61	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0601	0.36429	0.2625:0.6688:0.0:0.0687	.	.	.	.	X	1366;854;1390;1278;871	.	ENSP00000356369:R1278X	R	+	1	2	CRB1	195713579	0.992000	0.36948	0.407000	0.26434	0.800000	0.45204	2.858000	0.48356	0.689000	0.31550	0.644000	0.83932	CGA		0.532	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		T	197446956	C	T	197446956	4	4	222	1	0	0	0	0	0	1	0	0	3850	644	23	1	4214	1	CRB1	1	197446956	Nonsense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	41203788	197446956	51803665	13	13433											
FAM150B	285016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	283163	283163	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:283163C>A	ENST00000403610.4	-	5	741	c.401G>T	c.(400-402)tGc>tTc	p.C134F	FAM150B_ENST00000344414.5_Missense_Mutation_p.C42F|FAM150B_ENST00000405290.1_Missense_Mutation_p.C42F|FAM150B_ENST00000401503.1_Missense_Mutation_p.C42F	NM_001002919.2	NP_001002919.2	Q6UX46	F150B_HUMAN	family with sequence similarity 150, member B	134						extracellular region (GO:0005576)		p.C134F(2)		breast(1)|kidney(2)	3	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.00091)|Epithelial(75;0.00656)|OV - Ovarian serous cystadenocarcinoma(76;0.00954)|GBM - Glioblastoma multiforme(21;0.128)		AAGCCTGGCGCATCTTTTATA	0.418																																																2	Substitution - Missense(2)	kidney(2)											57	56	57					2																	283163		1859	4099	5958	SO:0001583	missense	285016				CCDS46218.1	2p25.3	2008-05-02			ENSG00000189292	ENSG00000189292			27683	protein-coding gene	gene with protein product							Standard	NM_001002919		Approved		uc002qwi.4	Q6UX46	OTTHUMG00000151366	ENST00000403610.4:c.401G>T	2.37:g.283163C>A	ENSP00000384604:p.Cys134Phe		B5MC76	Missense_Mutation	SNP	ENST00000403610.4	37	CCDS46218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.189815|3.189815	0.57909|0.57909	.|.	.|.	ENSG00000189292|ENSG00000189292	ENST00000401489|ENST00000436353;ENST00000403610;ENST00000401503;ENST00000405290;ENST00000344414;ENST00000452023	.|.	.|.	.|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71151|0.71151	0.3306|0.3306	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	T|T	0.73836|0.73836	-0.3857|-0.3857	5|9	.|0.87932	.|D	.|0	.|.	12.9885|12.9885	0.58606|0.58606	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|134	.|Q6UX46	.|F150B_HUMAN	S|F	85|74;134;42;42;42;134	.|.	.|ENSP00000339565:C42F	A|C	-|-	1|2	0|0	FAM150B|FAM150B	273163|273163	1.000000|1.000000	0.71417|0.71417	0.553000|0.553000	0.28255|0.28255	0.687000|0.687000	0.40016|0.40016	6.537000|6.537000	0.73847|0.73847	2.447000|2.447000	0.82792|0.82792	0.655000|0.655000	0.94253|0.94253	GCG|TGC		0.418	FAM150B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322394.2	NM_001002919		A	283163	C	A	283163	3	1	222	1	0	0	0	0	1	0	0	0	5459	710	25	4	65	4	FAM150B	2	283163	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10		283163	242916210	14	13434											
TIA1	7072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	70441538	70441538	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:70441538C>G	ENST00000433529.2	-	12	1187	c.977G>C	c.(976-978)gGt>gCt	p.G326A	C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000445587.1_Intron|TIA1_ENST00000482876.1_5'Flank|TIA1_ENST00000415783.2_Missense_Mutation_p.G315A|TIA1_ENST00000282574.4_Missense_Mutation_p.G325A	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	326					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.G326A(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						AACTTGCCAACCATTAGGCAT	0.403																																																1	Substitution - Missense(1)	kidney(1)											113	96	102					2																	70441538		2203	4300	6503	SO:0001583	missense	7072				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.977G>C	2.37:g.70441538C>G	ENSP00000401371:p.Gly326Ala		Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837085	0.91117	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000454815	T;T;T;T	0.33216	1.68;1.86;1.76;1.42	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.952	T	0.42224	-0.9464	10	0.14252	T	0.57	-14.4045	17.4725	0.87649	0.0:1.0:0.0:0.0	.	315;326	P31483-2;P31483	.;TIA1_HUMAN	A	326;315;403;325;97	ENSP00000401371:G326A;ENSP00000404023:G315A;ENSP00000282574:G325A;ENSP00000402263:G97A	ENSP00000282574:G325A	G	-	2	0	TIA1	70295042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.699000	0.92147	0.655000	0.94253	GGT		0.403	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		G	70441538	C	G	70441538	3	3	222	1	0	0	0	0	1	0	0	0	15892	507	18	4	191	4	TIA1	2	70441538	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	70158375	70441538	172757835	15	13435											
KIAA1310	55683	broad.mit.edu;hgsc.bcm.edu	37	2	97267383	97267383	+	Silent	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:97267383T>C	ENST00000431828.1	-	20	2689	c.2613A>G	c.(2611-2613)tcA>tcG	p.S871S	KANSL3_ENST00000440133.1_Silent_p.S691S|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000599854.1_Silent_p.S784S|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	897					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S871S(1)									GACTCACCTGTGAGCTGGAGG	0.587																																																1	Substitution - coding silent(1)	kidney(1)											29	31	30					2																	97267383		1942	4162	6104	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2613A>G	2.37:g.97267383T>C			A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	ENST00000431828.1	37	CCDS46361.1																																																																																				0.587	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		C	97267383	T	C	97267383	2	2	222	1	0	0	0	0	0	0	0	1	8224	1683	59	3		3	KIAA1310	2	97267383	Silent	SNP	T	TCGA-B0-5705-01A-11D-1534-10	26825845	97267383	145931990	16	13436											
UGGT1	56886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128878020	128878020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:128878020G>A	ENST00000259253.6	+	9	1010	c.963G>A	c.(961-963)tgG>tgA	p.W321*	UGGT1_ENST00000375990.3_Nonsense_Mutation_p.W297*|RN7SL206P_ENST00000580933.1_RNA	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	321					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.W321*(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAAAGGTTTGGCAGTTGCAAG	0.388																																																1	Substitution - Nonsense(1)	kidney(1)											163	169	167					2																	128878020		2203	4300	6503	SO:0001587	stop_gained	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.963G>A	2.37:g.128878020G>A	ENSP00000259253:p.Trp321*		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Nonsense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	37	6.202757	0.97371	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2958	0.90146	0.0:0.0:1.0:0.0	.	.	.	.	X	297;321	.	ENSP00000259253:W321X	W	+	3	0	UGGT1	128594490	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.089000	0.94137	2.308000	0.77769	0.462000	0.41574	TGG		0.388	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		A	128878020	G	A	128878020	4	1	222	1	0	0	0	0	0	1	0	0	16946	1212	42	2	997	2	UGGT1	2	128878020	Nonsense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10	31610637	128878020	114321353	17	13437											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179634827	179634827	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:179634827C>T	ENST00000591111.1	-	36	8825	c.8601G>A	c.(8599-8601)gtG>gtA	p.V2867V	TTN_ENST00000359218.5_Silent_p.V2821V|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Silent_p.V2821V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.V2867V|TTN_ENST00000589042.1_Silent_p.V2867V|TTN_ENST00000342175.6_Silent_p.V2821V|TTN_ENST00000342992.6_Silent_p.V2867V			Q8WZ42	TITIN_HUMAN	titin	13195					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)	p.V2821V(3)|p.V2867V(3)		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)			ATTGCCCGACCACAGCTGTGT	0.473																																																6	Substitution - coding silent(6)	kidney(6)											160	151	154					2																	179634827		2203	4300	6503	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8601G>A	2.37:g.179634827C>T			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179634827	C	T	179634827	2	4	222	1	0	0	0	0	0	0	0	1	16740	581	21	2		2	TTN	2	179634827	Silent	SNP	C	TCGA-B0-5705-01A-11D-1534-10	50756807	179634827	63564546	18	13438											
CCDC108	255101	broad.mit.edu;ucsc.edu	37	2	219886632	219886632	+	Silent	SNP	G	G	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:219886632G>C	ENST00000341552.5	-	18	3083	c.3000C>G	c.(2998-3000)gcC>gcG	p.A1000A	CCDC108_ENST00000453220.1_Silent_p.A1000A|CCDC108_ENST00000441968.1_Silent_p.A1000A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1000						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.A1000A(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCCCAAAGGCCAGCTCCT	0.602																																																1	Substitution - coding silent(1)	kidney(1)											118	122	121					2																	219886632		2203	4300	6503	SO:0001819	synonymous_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3000C>G	2.37:g.219886632G>C			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	CCDS2430.2																																																																																				0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		C	219886632	G	C	219886632	2	2	222	1	0	0	0	0	0	0	0	1	2745	987	35	4		4	CCDC108	2	219886632	Silent	SNP	G	TCGA-B0-5705-01A-11D-1534-10	40251805	219886632	23312741	19	13439											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191570	10191570	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr3:10191570T>C	ENST00000256474.2	+	3	1403	c.563T>C	c.(562-564)cTg>cCg	p.L188P	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.L147P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	188			L -> P (in VHLD; type I-II). {ECO:0000269|PubMed:9829912}.|L -> Q (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|L -> V (in ECYT2, pheochromocytoma and VHLD; type IIA; dbSNP:rs5030824). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:12844285}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L188P(4)|p.L188fs*14(2)|p.L188Q(2)|p.D187_L188del(2)|p.L188R(2)|p.D187_N193del(1)|p.E189fs*27(1)|p.Y185fs*11(1)|p.D187fs*14(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TACGAAGATCTGGAAGACCAC	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	16	Substitution - Missense(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Insertion - Frameshift(1)	kidney(16)	GRCh37	CD962181|CM951299|CM982013	VHL	D|M							76	69	72					3																	10191570		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.563T>C	3.37:g.10191570T>C	ENSP00000256474:p.Leu188Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312357	0.81358	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99878	-7.42;-7.42	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000002	D	0.99799	0.9914	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96566	0.9419	10	0.87932	D	0	-7.586	12.9354	0.58311	0.0:0.0:0.0:1.0	.	147;188	P40337-2;P40337	.;VHL_HUMAN	P	188;147;106	ENSP00000256474:L188P;ENSP00000344757:L147P	ENSP00000256474:L188P	L	+	2	0	VHL	10166570	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.790000	0.69038	2.209000	0.71365	0.533000	0.62120	CTG		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10191570	T	C	10191570	3	2	222	1	0	0	0	0	1	0	0	0	17167	1580	55	3	573	3	VHL	3	10191570	Missense_Mutation	SNP	T	TCGA-B0-5705-01A-11D-1534-10		10191570	187830860	20	13440											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52651383	52651383	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr3:52651383delA	ENST00000296302.7	-	14	1714	c.1713delT	c.(1711-1713)attfs	p.I571fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.I539fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.I571fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.I571fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.I586fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.I571fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.I586fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.I571fs			Q86U86	PB1_HUMAN	polybromo 1	571	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E572fs*16(2)|p.E540fs*16(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGTTATGCTCAATTATTTTCA	0.398			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Insertion - Frameshift(3)	kidney(3)											119	116	117					3																	52651383		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1713delT	3.37:g.52651383delA	ENSP00000296302:p.Ile571fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52651383	A	-	52651383	7	5	222	1	0	1	0	1	0	0	0	0	11493	126	5	0	3255	0	PBRM1	3	52651383	Frame_Shift_Del	DEL	A	TCGA-B0-5705-01A-11D-1534-10	42459813	52651383	145371047	21	13441											
STXBP5L	9515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121137382	121137382	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr3:121137382C>T	ENST00000273666.6	+	27	3768	c.3497C>T	c.(3496-3498)gCa>gTa	p.A1166V	STXBP5L_ENST00000471454.1_Missense_Mutation_p.A1142V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1166	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1166V(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTGCAGAAGCATTTTCCAAA	0.438																																																1	Substitution - Missense(1)	kidney(1)											55	59	57					3																	121137382		1999	4176	6175	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3497C>T	3.37:g.121137382C>T	ENSP00000273666:p.Ala1166Val		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025847	0.54683	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.23754	1.89;1.89;1.9	5.59	4.7	0.59300	Synaptobrevin (1);	0.234290	0.44097	D	0.000484	T	0.24890	0.0604	L	0.47716	1.5	0.80722	D	1	B;B	0.31680	0.335;0.335	B;B	0.25140	0.058;0.058	T	0.03662	-1.1015	10	0.62326	D	0.03	-5.5457	16.2727	0.82629	0.0:0.8672:0.1328:0.0	.	1142;1166	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	1166;1142;1109	ENSP00000273666:A1166V;ENSP00000420019:A1142V;ENSP00000420167:A1109V	ENSP00000273666:A1166V	A	+	2	0	STXBP5L	122620072	0.911000	0.30947	0.998000	0.56505	0.998000	0.95712	3.867000	0.56047	1.318000	0.45170	0.655000	0.94253	GCA		0.438	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			T	121137382	C	T	121137382	3	4	222	1	0	0	0	0	1	0	0	0	15362	710	25	2	3599	2	STXBP5L	3	121137382	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	68485999	121137382	76885048	22	13442											
SH3TC1	54436	hgsc.bcm.edu;ucsc.edu	37	4	8218768	8218768	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr4:8218768delG	ENST00000245105.3	+	7	780	c.713delG	c.(712-714)aggfs	p.R238fs	SH3TC1_ENST00000539824.1_Frame_Shift_Del_p.R162fs	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	238										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGGCCCTCAGGCAGGCTTCG	0.667																																					NSCLC(145;2298 2623 35616 37297)											0													56	58	57					4																	8218768		2203	4300	6503	SO:0001589	frameshift_variant	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.713delG	4.37:g.8218768delG	ENSP00000245105:p.Arg238fs		Q4W5G5	Frame_Shift_Del	DEL	ENST00000245105.3	37	CCDS3399.1																																																																																				0.667	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		-	8218768	G	-	8218768	7	5	222	1	0	1	0	1	0	0	0	0	14267	1000	35	0	735	0	SH3TC1	4	8218768	Frame_Shift_Del	DEL	G	TCGA-B0-5705-01A-11D-1534-10		8218768	182935508	23	13443											
CHRNA9	55584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	40356027	40356027	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr4:40356027C>T	ENST00000310169.2	+	5	1069	c.930C>T	c.(928-930)atC>atT	p.I310I		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	310					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)	p.I310I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TGGCCCTGATCACAGCCTCCA	0.498																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)											1	Substitution - coding silent(1)	kidney(1)											114	118	117					4																	40356027		2203	4300	6503	SO:0001819	synonymous_variant	55584			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.930C>T	4.37:g.40356027C>T			Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	CCDS3459.1																																																																																				0.498	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			T	40356027	C	T	40356027	2	4	222	1	0	0	0	0	0	0	0	1	3391	816	29	2		2	CHRNA9	4	40356027	Silent	SNP	C	TCGA-B0-5705-01A-11D-1534-10	32137259	40356027	150798249	24	13444											
BMP3	651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	81967318	81967318	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr4:81967318C>T	ENST00000282701.2	+	2	1063	c.743C>T	c.(742-744)gCc>gTc	p.A248V		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	248					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.A248V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AATGATGCCGCCATTTCTGAG	0.478																																																1	Substitution - Missense(1)	kidney(1)											97	98	98					4																	81967318		2203	4300	6503	SO:0001583	missense	651			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.743C>T	4.37:g.81967318C>T	ENSP00000282701:p.Ala248Val		Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524927	0.64747	.	.	ENSG00000152785	ENST00000282701	T	0.79352	-1.26	5.08	5.08	0.68730	.	0.047430	0.85682	D	0.000000	D	0.86497	0.5947	M	0.82323	2.585	0.80722	D	1	D	0.65815	0.995	P	0.55615	0.78	D	0.87037	0.2138	10	0.48119	T	0.1	.	18.6092	0.91277	0.0:1.0:0.0:0.0	.	248	P12645	BMP3_HUMAN	V	248	ENSP00000282701:A248V	ENSP00000282701:A248V	A	+	2	0	BMP3	82186342	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.698000	0.68302	2.806000	0.96561	0.655000	0.94253	GCC		0.478	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			T	81967318	C	T	81967318	3	4	222	1	0	0	0	0	1	0	0	0	1461	739	26	2	749	2	BMP3	4	81967318	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	41611291	81967318	109186958	25	13445											
CTNND2	1501	hgsc.bcm.edu;ucsc.edu	37	5	10988302	10988303	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr5:10988302_10988303delTG	ENST00000304623.8	-	20	3452_3453	c.3263_3264delCA	c.(3262-3264)acafs	p.T1088fs	CTNND2_ENST00000458100.2_Frame_Shift_Del_p.T655fs|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.T997fs|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.T751fs|CTNND2_ENST00000359640.2_Frame_Shift_Del_p.T1030fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1088					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTCGTAGTCTGTTTTCCTTTC	0.545											OREG0016517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3263_3264delCA	5.37:g.10988302_10988303delTG	ENSP00000307134:p.Thr1088fs	668	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Frame_Shift_Del	DEL	ENST00000304623.8	37	CCDS3881.1																																																																																				0.545	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		-	10988303	TG	-	10988302	7	5	222	1	0	1	0	1	0	0	0	0	4022	1567	55	0	425	0	CTNND2	5	10988302	Frame_Shift_Del	DEL	TG	TCGA-B0-5705-01A-11D-1534-10		10988302	169926958	26	13446											
IL6ST	3572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	55256363	55256363	+	Silent	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr5:55256363G>T	ENST00000381298.2	-	8	1152	c.840C>A	c.(838-840)acC>acA	p.T280T	IL6ST_ENST00000536319.1_Silent_p.T280T|IL6ST_ENST00000502326.3_Silent_p.T280T|IL6ST_ENST00000336909.5_Silent_p.T280T|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Silent_p.T280T|IL6ST_ENST00000381287.4_Silent_p.T280T|IL6ST_ENST00000522633.2_Silent_p.T280T|IL6ST_ENST00000381293.2_Silent_p.T114T	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	280	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.T280T(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGAAGATCGGGTGGATGCTG	0.388			O		hepatocellular ca																																		Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	1	Substitution - coding silent(1)	kidney(1)											105	94	98					5																	55256363		2203	4300	6503	SO:0001819	synonymous_variant	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.840C>A	5.37:g.55256363G>T			A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	37	CCDS3971.1																																																																																				0.388	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		T	55256363	G	T	55256363	2	4	222	1	0	0	0	0	0	0	0	1	7705	1219	43	4		4	IL6ST	5	55256363	Silent	SNP	G	TCGA-B0-5705-01A-11D-1534-10	44268061	55256363	125658897	27	13447											
CYFIP2	26999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156753229	156753229	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr5:156753229T>C	ENST00000521420.1	+	17	2046	c.1955T>C	c.(1954-1956)cTg>cCg	p.L652P	CYFIP2_ENST00000377576.3_Missense_Mutation_p.L678P|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L482P|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L377P|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L603P|CYFIP2_ENST00000347377.6_Missense_Mutation_p.L678P|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L703P|CYFIP2_ENST00000442283.2_5'UTR					cytoplasmic FMR1 interacting protein 2									p.L703P(2)|p.L678P(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACTATGCTCTGACCAAGTTT	0.463																																																3	Substitution - Missense(3)	kidney(3)											183	178	180					5																	156753229		1937	4139	6076	SO:0001583	missense	26999			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1955T>C	5.37:g.156753229T>C	ENSP00000430904:p.Leu652Pro			Missense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	T	24.3	4.515581	0.85389	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.80127	0.4566	M	0.90369	3.11	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.973	D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.997;0.999;0.985	D	0.84913	0.0849	10	0.87932	D	0	-16.3501	14.9447	0.71020	0.0:0.0:0.0:1.0	.	542;482;652;678;678;703	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	P	703;482;652;678;678;603;377	ENSP00000325817:L703P;ENSP00000428009:L482P;ENSP00000430904:L652P;ENSP00000313567:L678P;ENSP00000366799:L678P;ENSP00000444645:L603P;ENSP00000403793:L377P	ENSP00000325817:L703P	L	+	2	0	CYFIP2	156685807	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	7.954000	0.87848	1.989000	0.58080	0.533000	0.62120	CTG		0.463	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		C	156753229	T	C	156753229	3	2	222	1	0	0	0	0	1	0	0	0	4140	1580	55	3	2099	3	CYFIP2	5	156753229	Missense_Mutation	SNP	T	TCGA-B0-5705-01A-11D-1534-10	101496866	156753229	24162031	28	13448											
ZNF346	23567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176471492	176471492	+	Missense_Mutation	SNP	G	G	A	rs139233067		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr5:176471492G>A	ENST00000358149.3	+	4	518	c.475G>A	c.(475-477)Gca>Aca	p.A159T	ZNF346_ENST00000503425.1_Missense_Mutation_p.A127T|ZNF346_ENST00000261948.4_Missense_Mutation_p.A184T|ZNF346_ENST00000503039.1_Missense_Mutation_p.A184T|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000511834.1_Missense_Mutation_p.A159T|ZNF346_ENST00000506693.1_Intron	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	159					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGACCCACGCAAAGAACTT	0.542																																																1	Substitution - Missense(1)	kidney(1)						G	THR/ALA	0,4406		0,0,2203	151	138	142		475	4	1	5	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF346	NM_012279.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	159/295	176471492	1,13005	2203	4300	6503	SO:0001583	missense	23567			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.475G>A	5.37:g.176471492G>A	ENSP00000350869:p.Ala159Thr		B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246410	0.59103	0.0	1.16E-4	ENSG00000113761	ENST00000358149;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.91	4.04	0.47022	Zinc finger, U1-type (1);	0.269493	0.42964	D	0.000639	T	0.66446	0.2790	M	0.89601	3.045	0.27023	N	0.964424	D;P;P	0.71674	0.998;0.782;0.787	P;B;B	0.58660	0.843;0.294;0.12	T	0.62909	-0.6754	10	0.41790	T	0.15	.	9.7773	0.40628	0.1578:0.0:0.8422:0.0	.	127;184;159	B7Z367;Q9UL40-2;Q9UL40	.;.;ZN346_HUMAN	T	159;127;184;159;184	ENSP00000350869:A159T;ENSP00000421212:A127T;ENSP00000261948:A184T;ENSP00000425725:A159T;ENSP00000424495:A184T	ENSP00000261948:A184T	A	+	1	0	ZNF346	176404098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.134000	0.77268	1.190000	0.43042	0.637000	0.83480	GCA		0.542	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		A	176471492	G	A	176471492	3	1	222	1	0	0	0	0	1	0	0	0	17865	1087	38	1	489	1	ZNF346	5	176471492	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10	19718263	176471492	4443768	29	13449											
ADAMTS2	9509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178555036	178555036	+	Silent	SNP	G	G	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr5:178555036G>A	ENST00000251582.7	-	17	2642	c.2541C>T	c.(2539-2541)aaC>aaT	p.N847N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	847	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N847N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587																																																1	Substitution - coding silent(1)	kidney(1)											203	164	177					5																	178555036		2203	4300	6503	SO:0001819	synonymous_variant	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2541C>T	5.37:g.178555036G>A				Silent	SNP	ENST00000251582.7	37	CCDS4444.1																																																																																				0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		A	178555036	G	A	178555036	2	1	222	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178555036	Silent	SNP	G	TCGA-B0-5705-01A-11D-1534-10	2083544	178555036	2360224	30	13450											
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43308012	43308012	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr6:43308012T>A	ENST00000361428.2	-	10	3801	c.3724A>T	c.(3724-3726)Aac>Tac	p.N1242Y	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1242	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.N1242Y(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCAGGGGAGTTCCTACCCTCA	0.398																																																1	Substitution - Missense(1)	kidney(1)											181	182	182					6																	43308012		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3724A>T	6.37:g.43308012T>A	ENSP00000354964:p.Asn1242Tyr		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	T	10.15	1.271462	0.23221	.	.	ENSG00000171467	ENST00000361428	T	0.50001	0.76	5.69	1.7	0.24286	.	0.633406	0.16076	N	0.230757	T	0.14270	0.0345	N	0.24115	0.695	0.09310	N	1	P	0.41524	0.753	B	0.40444	0.329	T	0.06734	-1.0810	10	0.66056	D	0.02	-1.9602	4.5417	0.12061	0.0:0.1951:0.3137:0.4912	.	1242	Q5VUA4	ZN318_HUMAN	Y	1242	ENSP00000354964:N1242Y	ENSP00000354964:N1242Y	N	-	1	0	ZNF318	43415990	0.164000	0.22935	0.189000	0.23252	0.980000	0.70556	1.542000	0.36137	0.046000	0.15833	0.533000	0.62120	AAC		0.398	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		A	43308012	T	A	43308012	3	1	222	1	0	0	0	0	1	0	0	0	17841	1783	62	5	3119	5	ZNF318	6	43308012	Missense_Mutation	SNP	T	TCGA-B0-5705-01A-11D-1534-10		43308012	127807055	31	13451											
FOXO3	2309	broad.mit.edu	37	6	108985392	108985392	+	Silent	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr6:108985392A>G	ENST00000343882.6	+	3	1660	c.1356A>G	c.(1354-1356)caA>caG	p.Q452Q	FOXO3_ENST00000540898.1_Silent_p.Q232Q|FOXO3_ENST00000406360.1_Silent_p.Q452Q	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	452					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|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)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q452Q(1)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		AGACCATCCAAGAGAACAAGC	0.552																																																1	Substitution - coding silent(1)	kidney(1)											56	52	53					6																	108985392		2050	4075	6125	SO:0001819	synonymous_variant	2309			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1356A>G	6.37:g.108985392A>G			B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Silent	SNP	ENST00000343882.6	37	CCDS5068.1																																																																																				0.552	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			G	108985392	A	G	108985392	2	3	222	1	0	0	0	0	0	0	0	1	6026	69	3	3		3	FOXO3	6	108985392	Silent	SNP	A	TCGA-B0-5705-01A-11D-1534-10	65677380	108985392	62129675	32	13452											
OPRM1	4988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	154412361	154412361	+	Silent	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr6:154412361C>A	ENST00000330432.7	+	3	1155	c.918C>A	c.(916-918)gcC>gcA	p.A306A	OPRM1_ENST00000428397.2_Silent_p.A306A|OPRM1_ENST00000452687.2_Silent_p.A306A|OPRM1_ENST00000414028.2_Silent_p.A306A|OPRM1_ENST00000434900.2_Silent_p.A399A|OPRM1_ENST00000337049.4_Silent_p.A306A|OPRM1_ENST00000435918.2_Silent_p.A306A|OPRM1_ENST00000518759.1_Silent_p.A225A|OPRM1_ENST00000360422.4_Silent_p.A306A|OPRM1_ENST00000419506.2_Silent_p.A306A|OPRM1_ENST00000524163.1_Silent_p.A306A|OPRM1_ENST00000520708.1_Silent_p.A206A|OPRM1_ENST00000522236.1_Silent_p.A206A|OPRM1_ENST00000522555.1_Silent_p.A206A|OPRM1_ENST00000229768.5_Silent_p.A306A	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	306					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.A306A(2)|p.A399A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCATTAAAGCCTTGGTTACAA	0.478																																																3	Substitution - coding silent(3)	kidney(3)											152	165	161					6																	154412361		2191	4298	6489	SO:0001819	synonymous_variant	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.918C>A	6.37:g.154412361C>A			B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	CCDS55070.1																																																																																				0.478	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		A	154412361	C	A	154412361	2	1	222	1	0	0	0	0	0	0	0	1	10889	668	24	4		4	OPRM1	6	154412361	Silent	SNP	C	TCGA-B0-5705-01A-11D-1534-10	45426969	154412361	16702706	33	13453											
SERAC1	84947	broad.mit.edu;ucsc.edu	37	6	158569914	158569914	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr6:158569914A>G	ENST00000367104.3	-	5	469	c.338T>C	c.(337-339)cTg>cCg	p.L113P	SERAC1_ENST00000367101.1_Missense_Mutation_p.L113P|SERAC1_ENST00000607000.1_Missense_Mutation_p.L113P|SERAC1_ENST00000367102.2_Missense_Mutation_p.L113P	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	113					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)	p.L113P(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGGATTCCGCAGTATCTTGGC	0.338																																																1	Substitution - Missense(1)	kidney(1)											162	129	140					6																	158569914		2203	4300	6503	SO:0001583	missense	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.338T>C	6.37:g.158569914A>G	ENSP00000356071:p.Leu113Pro		Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920570	0.52653	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.70631	-0.5;-0.5;-0.5	5.61	5.61	0.85477	.	0.384234	0.29133	N	0.013056	T	0.69124	0.3076	L	0.53249	1.67	0.58432	D	0.999998	D	0.53312	0.959	P	0.56127	0.792	T	0.69756	-0.5059	10	0.87932	D	0	-2.3688	14.7846	0.69793	1.0:0.0:0.0:0.0	.	113	Q96JX3	SRAC1_HUMAN	P	113	ENSP00000356069:L113P;ENSP00000356071:L113P;ENSP00000356068:L113P	ENSP00000356068:L113P	L	-	2	0	SERAC1	158489902	0.999000	0.42202	0.019000	0.16419	0.295000	0.27426	7.472000	0.80996	-0.365000	0.08076	-0.482000	0.04802	CTG		0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		G	158569914	A	G	158569914	3	3	222	1	0	0	0	0	1	0	0	0	14080	188	7	3	1678	3	SERAC1	6	158569914	Missense_Mutation	SNP	A	TCGA-B0-5705-01A-11D-1534-10	4157553	158569914	12545153	34	13454											
IFRD1	3475	broad.mit.edu	37	7	112090771	112090771	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr7:112090771delC	ENST00000403825.3	+	1	289	c.28delC	c.(28-30)cccfs	p.P10fs	IFRD1_ENST00000535603.1_5'Flank|IFRD1_ENST00000429071.1_Frame_Shift_Del_p.P10fs|IFRD1_ENST00000005558.4_Frame_Shift_Del_p.P10fs	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	10					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GCGGAACACTCCCCACCgcgg	0.667																																																0													18	20	19					7																	112090771		2169	4268	6437	SO:0001589	frameshift_variant	3475			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.28delC	7.37:g.112090771delC	ENSP00000384477:p.Pro10fs		B7Z5G1|O75234|Q5U013|Q9BVE4	Frame_Shift_Del	DEL	ENST00000403825.3	37	CCDS34736.1																																																																																				0.667	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		-	112090771	C	-	112090771	7	5	222	1	0	1	0	1	0	0	0	0	7555	855	30	0	30	0	IFRD1	7	112090771	Frame_Shift_Del	DEL	C	TCGA-B0-5705-01A-11D-1534-10		112090771	47047892	35	13455											
ANKRD7	56311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117876197	117876197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr7:117876197C>T	ENST00000265224.4	+	4	726	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	ANKRD7_ENST00000417525.1_Nonsense_Mutation_p.Q138*|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000357099.4_Nonsense_Mutation_p.Q211*|ANKRD7_ENST00000433239.1_Nonsense_Mutation_p.Q138*	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	191					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.Q211E(1)|p.Q211*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AGATAATTATCAAAGGTATAA	0.363																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(1)|kidney(1)											55	58	57					7																	117876197		1826	4079	5905	SO:0001587	stop_gained	56311			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"Ankyrin repeat domain containing"	18588	protein-coding gene	gene with protein product	"testis-specific ankyrin motif containing protein"	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.571C>T	7.37:g.117876197C>T	ENSP00000265224:p.Gln191*		B4DYF5|Q96QN1|Q9UDM3	Nonsense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360760	0.61403	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	.	.	.	5.3	4.36	0.52297	.	0.283366	0.25214	N	0.032281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-14.2401	9.0635	0.36449	0.1325:0.5826:0.2849:0.0	.	.	.	.	X	211;191;138;138	.	ENSP00000265224:Q191X	Q	+	1	0	ANKRD7	117663433	0.462000	0.25791	0.929000	0.37066	0.401000	0.30781	0.824000	0.27379	2.651000	0.90000	0.491000	0.48974	CAA		0.363	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		T	117876197	C	T	117876197	4	4	222	1	0	0	0	0	0	1	0	0	686	827	29	2	585	2	ANKRD7	7	117876197	Nonsense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	5785426	117876197	41262466	36	13456											
GCC1	79571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127222351	127222351	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr7:127222351T>C	ENST00000321407.2	-	2	2469	c.2045A>G	c.(2044-2046)cAt>cGt	p.H682R	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	682					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.H682R(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCAGCTGATGCACCTCGAC	0.582																																																1	Substitution - Missense(1)	kidney(1)											102	94	97					7																	127222351		2203	4300	6503	SO:0001583	missense	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.2045A>G	7.37:g.127222351T>C	ENSP00000318821:p.His682Arg		Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	T	8.797	0.932000	0.18131	.	.	ENSG00000179562	ENST00000321407	T	0.06294	3.32	5.87	-0.921	0.10472	.	0.143686	0.64402	N	0.000005	T	0.02848	0.0085	N	0.21583	0.68	0.50467	D	0.999877	B	0.02656	0.0	B	0.04013	0.001	T	0.48758	-0.9007	10	0.13108	T	0.6	-4.698	1.9409	0.03346	0.1194:0.2074:0.124:0.5492	.	682	Q96CN9	GCC1_HUMAN	R	682	ENSP00000318821:H682R	ENSP00000318821:H682R	H	-	2	0	GCC1	127009587	0.773000	0.28580	0.241000	0.24154	0.884000	0.51177	1.038000	0.30254	-0.284000	0.09102	-0.316000	0.08728	CAT		0.582	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		C	127222351	T	C	127222351	3	2	222	1	0	0	0	0	1	0	0	0	6287	1464	51	3	286	3	GCC1	7	127222351	Missense_Mutation	SNP	T	TCGA-B0-5705-01A-11D-1534-10	9346154	127222351	31916312	37	13457											
DPY19L4	286148	broad.mit.edu;ucsc.edu	37	8	95777480	95777481	+	Missense_Mutation	DNP	GC	GC	TA	rs144794373	byFrequency	TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr8:95777480_95777481GC>TA	ENST00000414645.2	+	9	1039_1040	c.940_941GC>TA	c.(940-942)GCt>TAt	p.A314Y		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	314						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A314D(1)|p.A314S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGAGAATCCAGCTTTGTTGGTA	0.297																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	Exception_encountered	8.37:g.95777480_95777481delinsTA	ENSP00000389630:p.Ala314Tyr		Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	CCDS34924.1																																																																																				0.297	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		TA	95777481	GC	TA	95777480	3	4	222	1	0	0	0	0	1	0	0	0	4745	971	34	4	974	4	DPY19L4	8	95777480	Missense_Mutation	DNP	GC	TCGA-B0-5705-01A-11D-1534-10		95777480	50586542	38	13458											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113529433	113529433	+	Missense_Mutation	SNP	C	C	T	rs138068999		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr8:113529433C>T	ENST00000297405.5	-	28	4830	c.4586G>A	c.(4585-4587)cGt>cAt	p.R1529H	CSMD3_ENST00000352409.3_Missense_Mutation_p.R1529H|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1425H|CSMD3_ENST00000343508.3_Missense_Mutation_p.R1489H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1529	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1529H(2)|p.R1489H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCTGGGTCACGACACGCAGT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		14260	0.0		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	kidney(2)|large_intestine(1)						C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	55	49	51		4274,4586,4466	3.8	1	8	dbSNP_134	51	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	1425/3539,1529/3708,1489/3668	113529433	2,13004	2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4586G>A	8.37:g.113529433C>T	ENSP00000297405:p.Arg1529His		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.3	4.129748	0.77549	0.0	2.33E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	4.7	3.81	0.43845	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.70098	0.3185	L	0.41632	1.29	0.33293	D	0.563809	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.76071	0.977;0.987;0.862	T	0.76661	-0.2877	10	0.39692	T	0.17	.	14.2188	0.65812	0.1506:0.8494:0.0:0.0	.	1425;1529;1489	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	1489;1529;869;1425;1529	ENSP00000345799:R1489H;ENSP00000297405:R1529H;ENSP00000341558:R869H;ENSP00000412263:R1425H;ENSP00000343124:R1529H	ENSP00000297405:R1529H	R	-	2	0	CSMD3	113598609	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.894000	0.56250	1.159000	0.42565	0.585000	0.79938	CGT		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113529433	C	T	113529433	3	4	222	1	0	0	0	0	1	0	0	0	3948	536	19	1	6713	1	CSMD3	8	113529433	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	17751953	113529433	32834589	39	13459											
NOL6	65083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	33464888	33464888	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr9:33464888T>G	ENST00000379471.2	-	21	2855	c.2768A>C	c.(2767-2769)aAt>aCt	p.N923T	NOL6_ENST00000455041.2_Missense_Mutation_p.N871T|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	923					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N923T(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGTGAGCTCATTATTGAGGTT	0.483																																																1	Substitution - Missense(1)	kidney(1)											91	96	94					9																	33464888		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2768A>C	9.37:g.33464888T>G	ENSP00000368784:p.Asn923Thr		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	T	7.488	0.650154	0.14516	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.42131	0.98;0.98;0.98	5.45	-1.24	0.09435	.	0.664731	0.15963	N	0.236178	T	0.29976	0.0750	L	0.43923	1.385	0.09310	N	1	B;B;B;B	0.15719	0.008;0.014;0.007;0.008	B;B;B;B	0.17979	0.02;0.016;0.007;0.019	T	0.28586	-1.0039	10	0.18276	T	0.48	.	10.5196	0.44912	0.0:0.6651:0.1557:0.1792	.	871;920;923;923	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	T	923;923;479;923;871	ENSP00000297990:N923T;ENSP00000368784:N923T;ENSP00000395915:N871T	ENSP00000297990:N923T	N	-	2	0	NOL6	33454888	0.001000	0.12720	0.865000	0.33974	0.485000	0.33311	0.070000	0.14573	-0.161000	0.10983	0.533000	0.62120	AAT		0.483	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		G	33464888	T	G	33464888	3	3	222	1	0	0	0	0	1	0	0	0	10527	1493	52	5	696	5	NOL6	9	33464888	Missense_Mutation	SNP	T	TCGA-B0-5705-01A-11D-1534-10		33464888	107748543	40	13460											
CERCAM	51148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131193563	131193563	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr9:131193563A>T	ENST00000372838.4	+	9	1582	c.1184A>T	c.(1183-1185)cAt>cTt	p.H395L	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Missense_Mutation_p.H317L	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	395					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.H317L(1)|p.H395L(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TTCCTCAGCCATTACTCCATC	0.602																																																2	Substitution - Missense(2)	kidney(2)											79	78	78					9																	131193563		2203	4300	6503	SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1184A>T	9.37:g.131193563A>T	ENSP00000361929:p.His395Leu		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	A	32	5.128885	0.94473	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.99023	-5.13;-5.34	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	M	0.90019	3.08	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.98974	1.0802	10	0.87932	D	0	-17.4497	12.9686	0.58499	1.0:0.0:0.0:0.0	.	395	Q5T4B2	GT253_HUMAN	L	317;395;348	ENSP00000361933:H317L;ENSP00000361929:H395L	ENSP00000361929:H395L	H	+	2	0	CERCAM	130233384	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.952000	0.93031	2.000000	0.58554	0.402000	0.26972	CAT		0.602	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		T	131193563	A	T	131193563	3	4	222	1	0	0	0	0	1	0	0	0	3268	217	8	5	1218	5	CERCAM	9	131193563	Missense_Mutation	SNP	A	TCGA-B0-5705-01A-11D-1534-10	97728675	131193563	10019868	41	13461											
OR6T1	219874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123814182	123814182	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr11:123814182G>T	ENST00000321252.2	-	1	398	c.364C>A	c.(364-366)Cgt>Agt	p.R122S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122S(1)|p.R122C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCCAGGTAACGATCCAGAGAC	0.527																																																2	Substitution - Missense(2)	kidney(1)|skin(1)											89	75	80					11																	123814182		2202	4299	6501	SO:0001583	missense	219874			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.364C>A	11.37:g.123814182G>T	ENSP00000325203:p.Arg122Ser		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675389	0.67928	.	.	ENSG00000181499	ENST00000321252	T	0.77620	-1.11	3.85	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.90940	0.7152	H	0.97051	3.93	0.25231	N	0.989827	D	0.89917	1.0	D	0.80764	0.994	T	0.82118	-0.0615	9	0.87932	D	0	-40.5181	10.1214	0.42623	0.0:0.0:0.7982:0.2018	.	122	Q8NGN1	OR6T1_HUMAN	S	122	ENSP00000325203:R122S	ENSP00000325203:R122S	R	-	1	0	OR6T1	123319392	0.791000	0.28800	0.018000	0.16275	0.986000	0.74619	1.792000	0.38754	0.768000	0.33290	0.563000	0.77884	CGT		0.527	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		T	123814182	G	T	123814182	3	4	222	1	0	0	0	0	1	0	0	0	11212	1058	37	4	610	4	OR6T1	11	123814182	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10		123814182	11192334	42	13462											
C12orf53	196500	broad.mit.edu	37	12	6804739	6804739	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:6804739C>T	ENST00000540656.1	-	5	1022	c.684G>A	c.(682-684)ctG>ctA	p.L228L	PIANP_ENST00000320591.5_Silent_p.L228L|PIANP_ENST00000534837.1_Silent_p.L228L	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	228						integral component of membrane (GO:0016021)		p.L228L(1)									ACAGGTCTGTCAGTGGCTGCT	0.682																																																1	Substitution - coding silent(1)	kidney(1)											39	42	41					12																	6804739		2006	4162	6168	SO:0001819	synonymous_variant	0			BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"PILR-associating neural protein"		"chromosome 12 open reading frame 53"	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.684G>A	12.37:g.6804739C>T			A8K0T3|B3KPF7|B3KRI6|Q6UX35	Silent	SNP	ENST00000540656.1	37	CCDS44818.1																																																																																				0.682	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400524.1	NM_153685		T	6804739	C	T	6804739	2	4	222	1	0	0	0	0	0	0	0	1	1700	813	29	2		2	C12orf53	12	6804739	Silent	SNP	C	TCGA-B0-5705-01A-11D-1534-10		6804739	127047156	43	13463											
SLCO1C1	53919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	20893281	20893281	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:20893281C>T	ENST00000266509.2	+	12	2080	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P522L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P453L|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.P571L|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P571L	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	571					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P571L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GGTGGCATACCTGGATACATA	0.368																																																1	Substitution - Missense(1)	kidney(1)											173	167	169					12																	20893281		2203	4300	6503	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1712C>T	12.37:g.20893281C>T	ENSP00000266509:p.Pro571Leu		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901984	0.92035	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.03	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	H	0.95294	3.65	0.80722	D	1	D;D;D;D	0.89917	1.0;0.97;0.97;0.97	D;P;D;P	0.83275	0.996;0.838;0.927;0.873	D	0.85494	0.1187	10	0.72032	D	0.01	.	18.5625	0.91105	0.0:1.0:0.0:0.0	.	453;522;571;571	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	L	571;522;571;571;453	ENSP00000444149:P571L;ENSP00000438665:P522L;ENSP00000266509:P571L;ENSP00000370964:P571L;ENSP00000444527:P453L	ENSP00000266509:P571L	P	+	2	0	SLCO1C1	20784548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.182000	0.77689	2.605000	0.88082	0.655000	0.94253	CCT		0.368	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		T	20893281	C	T	20893281	3	4	222	1	0	0	0	0	1	0	0	0	14731	681	24	2	1754	2	SLCO1C1	12	20893281	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	14088542	20893281	112958614	44	13464											
SLCO1A2	6579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21471822	21471822	+	Silent	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:21471822G>T	ENST00000307378.6	-	4	816	c.96C>A	c.(94-96)tcC>tcA	p.S32S	SLCO1A2_ENST00000473830.1_5'UTR|SLCO1A2_ENST00000452078.1_Silent_p.S32S|SLCO1A2_ENST00000390670.3_Silent_p.S30S|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000537524.1_5'UTR	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	32					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S32S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACAGTGTTTTGGATACAAATG	0.323																																																1	Substitution - coding silent(1)	kidney(1)											90	88	89					12																	21471822		2203	4298	6501	SO:0001819	synonymous_variant	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.96C>A	12.37:g.21471822G>T			Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	CCDS8686.1																																																																																				0.323	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		T	21471822	G	T	21471822	2	4	222	1	0	0	0	0	0	0	0	1	14728	1335	47	4		4	SLCO1A2	12	21471822	Silent	SNP	G	TCGA-B0-5705-01A-11D-1534-10	578541	21471822	112380073	45	13465											
ADCY6	112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49167327	49167327	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:49167327delT	ENST00000307885.4	-	15	3240	c.2546delA	c.(2545-2547)tatfs	p.Y849fs	ADCY6_ENST00000552090.1_5'Flank|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Frame_Shift_Del_p.Y796fs|ADCY6_ENST00000357869.3_Frame_Shift_Del_p.Y796fs	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	849					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CAGCACCAAATAGATGAGCCC	0.512																																																0													103	93	96					12																	49167327		2203	4300	6503	SO:0001589	frameshift_variant	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2546delA	12.37:g.49167327delT	ENSP00000311405:p.Tyr849fs		Q9NR75|Q9UDB0	Frame_Shift_Del	DEL	ENST00000307885.4	37	CCDS8767.1																																																																																				0.512	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		-	49167327	T	-	49167327	7	5	222	1	0	1	0	1	0	0	0	0	298	1406	49	0	988	0	ADCY6	12	49167327	Frame_Shift_Del	DEL	T	TCGA-B0-5705-01A-11D-1534-10	27695505	49167327	84684568	46	13466											
CALCOCO1	57658	broad.mit.edu;ucsc.edu	37	12	54107576	54107576	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:54107576G>C	ENST00000550804.1	-	13	1760	c.1700C>G	c.(1699-1701)cCt>cGt	p.P567R	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.P482R|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.P567R|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.P567R			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	567	C-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.P567R(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCCTCTCGAGGCCCAGCAGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											69	72	71					12																	54107576		2203	4300	6503	SO:0001583	missense	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1700C>G	12.37:g.54107576G>C	ENSP00000449960:p.Pro567Arg		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	g	6.610	0.480881	0.12581	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	3.88	2.01	0.26516	.	0.481870	0.15640	N	0.251930	T	0.22126	0.0533	L	0.52573	1.65	0.09310	N	0.999999	B;B;B;B;B;B	0.13145	0.0;0.006;0.0;0.0;0.007;0.001	B;B;B;B;B;B	0.15870	0.002;0.008;0.001;0.002;0.014;0.007	T	0.22243	-1.0222	10	0.72032	D	0.01	-2.4409	7.0746	0.25197	0.2195:0.0:0.7805:0.0	.	482;567;567;482;567;244	E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2;E9PGB0	.;.;.;.;CACO1_HUMAN;.	R	244;482;567;505;567;567	ENSP00000397189:P482R;ENSP00000262059:P567R;ENSP00000447647:P567R;ENSP00000449960:P567R	ENSP00000262059:P567R	P	-	2	0	CALCOCO1	52393843	0.628000	0.27138	0.026000	0.17262	0.500000	0.33767	0.762000	0.26503	0.416000	0.25844	0.443000	0.29094	CCT		0.607	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		C	54107576	G	C	54107576	3	2	222	1	0	0	0	0	1	0	0	0	2579	1000	35	4	387	4	CALCOCO1	12	54107576	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10	4940249	54107576	79744319	47	13467											
CKAP4	10970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	106633704	106633704	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:106633704T>C	ENST00000378026.4	-	2	1043	c.907A>G	c.(907-909)Aga>Gga	p.R303G	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	303						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.R303G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TCCCACTCTCTGGACTTGGCT	0.537																																																1	Substitution - Missense(1)	kidney(1)											119	120	119					12																	106633704		2203	4300	6503	SO:0001583	missense	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.907A>G	12.37:g.106633704T>C	ENSP00000367265:p.Arg303Gly		Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371808	0.24857	.	.	ENSG00000136026	ENST00000378026	T	0.77750	-1.12	5.8	0.0395	0.14205	.	0.775102	0.12559	N	0.458359	T	0.72700	0.3493	M	0.62723	1.935	0.09310	N	1	B	0.22003	0.063	B	0.15484	0.013	T	0.57665	-0.7772	10	0.21540	T	0.41	-2.0993	15.0678	0.72011	0.0:0.0:0.5391:0.4609	.	303	Q07065	CKAP4_HUMAN	G	303	ENSP00000367265:R303G	ENSP00000367265:R303G	R	-	1	2	CKAP4	105157834	0.315000	0.24571	0.019000	0.16419	0.640000	0.38277	1.032000	0.30178	0.049000	0.15920	0.460000	0.39030	AGA		0.537	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			C	106633704	T	C	106633704	3	2	222	1	0	0	0	0	1	0	0	0	3446	1588	55	3	905	3	CKAP4	12	106633704	Missense_Mutation	SNP	T	TCGA-B0-5705-01A-11D-1534-10	52526128	106633704	27218191	48	13468											
MRP63	78988	broad.mit.edu	37	13	21751241	21751241	+	Missense_Mutation	SNP	C	C	G	rs371867311		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr13:21751241C>G	ENST00000309594.4	+	2	264	c.186C>G	c.(184-186)caC>caG	p.H62Q	SKA3_ENST00000400018.3_5'Flank|SKA3_ENST00000314759.5_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		62					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.H62Q(1)		kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		AGCGCGGCCACGCCGCGGTGC	0.642																																																1	Substitution - Missense(1)	kidney(1)											36	36	36					13																	21751241		2203	4300	6503	SO:0001583	missense	78988																														ENST00000309594.4:c.186C>G	13.37:g.21751241C>G	ENSP00000310726:p.His62Gln		A2A332	Missense_Mutation	SNP	ENST00000309594.4	37	CCDS9296.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833158	0.50951	.	.	ENSG00000173141	ENST00000309594	.	.	.	5.86	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.75421	0.3847	M	0.81942	2.565	0.40023	D	0.975435	D	0.76494	0.999	D	0.66847	0.947	T	0.76198	-0.3047	9	0.72032	D	0.01	-7.3633	9.4946	0.38980	0.0:0.6637:0.0:0.3363	.	62	Q9BQC6	RT63_HUMAN	Q	62	.	ENSP00000310726:H62Q	H	+	3	2	MRP63	20649241	0.997000	0.39634	0.004000	0.12327	0.000000	0.00434	0.525000	0.22956	0.403000	0.25479	-0.150000	0.13652	CAC		0.642	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2			G	21751241	C	G	21751241	3	3	222	1	0	0	0	0	1	0	0	0	9775	535	19	4	188	4	MRP63	13	21751241	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10		21751241	93418637	49	13469											
RNF31	55072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24617487	24617487	+	Silent	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr14:24617487A>G	ENST00000324103.6	+	3	680	c.360A>G	c.(358-360)cgA>cgG	p.R120R	PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000216802.5_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000382687.3_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	120	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R120R(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ATGTGCTGCGATTATATGGCT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											50	54	52					14																	24617487		2095	4237	6332	SO:0001819	synonymous_variant	55072			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.360A>G	14.37:g.24617487A>G			A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	CCDS41931.1																																																																																				0.567	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		G	24617487	A	G	24617487	2	3	222	1	0	0	0	0	0	0	0	1	13493	320	12	3		3	RNF31	14	24617487	Silent	SNP	A	TCGA-B0-5705-01A-11D-1534-10		24617487	82732053	50	13470											
ZFP106	64397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42743699	42743699	+	Silent	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr15:42743699A>G	ENST00000263805.4	-	2	1028	c.702T>C	c.(700-702)aaT>aaC	p.N234N	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	234					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.N234N(1)									TGTAATTCCAATTATTTGTAC	0.403																																																1	Substitution - coding silent(1)	kidney(1)											105	104	105					15																	42743699		2203	4299	6502	SO:0001819	synonymous_variant	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.702T>C	15.37:g.42743699A>G			B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.403	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		G	42743699	A	G	42743699	2	3	222	1	0	0	0	0	0	0	0	1	17642	98	4	3		3	ZFP106	15	42743699	Silent	SNP	A	TCGA-B0-5705-01A-11D-1534-10		42743699	59787693	51	13471											
ZSCAN29	146050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43661240	43661240	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr15:43661240T>A	ENST00000396976.2	-	2	538	c.404A>T	c.(403-405)cAg>cTg	p.Q135L	ZSCAN29_ENST00000563508.1_5'Flank|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.Q135L|TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.Q134L|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.Q134L	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	135					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q135L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CACTGACTCCTGCCGAACACT	0.547																																																1	Substitution - Missense(1)	kidney(1)											123	124	124					15																	43661240		2201	4299	6500	SO:0001583	missense	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.404A>T	15.37:g.43661240T>A	ENSP00000380174:p.Gln135Leu		B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	T	11.68	1.710209	0.30322	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.06933	3.26;3.24	4.89	3.75	0.43078	.	0.000000	0.48286	D	0.000197	T	0.12902	0.0313	L	0.31157	0.91	0.23872	N	0.996607	B;B;B;D	0.54601	0.002;0.008;0.014;0.967	B;B;B;D	0.65140	0.006;0.003;0.018;0.932	T	0.13335	-1.0513	10	0.22109	T	0.4	-12.3274	7.9284	0.29889	0.1827:0.0:0.0:0.8173	.	135;134;135;135	Q8IWY8-4;C9K0J8;Q8IWY8-3;Q8IWY8	.;.;.;ZSC29_HUMAN	L	135	ENSP00000380174:Q135L;ENSP00000380170:Q135L	ENSP00000380170:Q135L	Q	-	2	0	ZSCAN29	41448532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.755000	0.47540	0.962000	0.38057	0.533000	0.62120	CAG		0.547	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		A	43661240	T	A	43661240	3	1	222	1	0	0	0	0	1	0	0	0	18241	1580	55	5	2170	5	ZSCAN29	15	43661240	Missense_Mutation	SNP	T	TCGA-B0-5705-01A-11D-1534-10	917541	43661240	58870152	52	13472											
TRPM7	54822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50867287	50867287	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr15:50867287A>G	ENST00000313478.7	-	34	5062	c.4781T>C	c.(4780-4782)aTa>aCa	p.I1594T	TRPM7_ENST00000560955.1_Missense_Mutation_p.I1593T|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1594	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.I1593T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTTATTTAGTATGTTGGGTGA	0.403																																																1	Substitution - Missense(1)	kidney(1)											124	113	116					15																	50867287		1855	4091	5946	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4781T>C	15.37:g.50867287A>G	ENSP00000320239:p.Ile1594Thr		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	A	0.430	-0.903710	0.02453	.	.	ENSG00000092439	ENST00000313478	T	0.06768	3.26	5.3	5.3	0.74995	MHCK/EF2 kinase (1);Protein kinase-like domain (1);	0.147171	0.64402	D	0.000009	T	0.04452	0.0122	N	0.08118	0	0.41337	D	0.987275	B	0.10296	0.003	B	0.12156	0.007	T	0.18116	-1.0347	10	0.02654	T	1	-23.1417	15.4071	0.74887	1.0:0.0:0.0:0.0	.	1594	Q96QT4	TRPM7_HUMAN	T	1594	ENSP00000320239:I1594T	ENSP00000320239:I1594T	I	-	2	0	TRPM7	48654579	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.670000	0.46833	2.222000	0.72286	0.477000	0.44152	ATA		0.403	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		G	50867287	A	G	50867287	3	3	222	1	0	0	0	0	1	0	0	0	16596	449	16	3	840	3	TRPM7	15	50867287	Missense_Mutation	SNP	A	TCGA-B0-5705-01A-11D-1534-10	7206047	50867287	51664105	53	13473											
CLDN6	9074	broad.mit.edu;hgsc.bcm.edu	37	16	3065984	3065984	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:3065984C>T	ENST00000396925.1	-	3	467	c.39G>A	c.(37-39)ctG>ctA	p.L13L	CLDN6_ENST00000572154.1_Silent_p.L13L|TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000328796.4_Silent_p.L13L			P56747	CLD6_HUMAN	claudin 6	13					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.L13L(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCAGCAGTGTCAGGACGACTC	0.607																																																1	Substitution - coding silent(1)	kidney(1)											77	69	71					16																	3065984		2198	4300	6498	SO:0001819	synonymous_variant	9074			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"Claudins"	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.39G>A	16.37:g.3065984C>T			B3KQP9|D3DUA5	Silent	SNP	ENST00000396925.1	37	CCDS10488.1																																																																																				0.607	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		T	3065984	C	T	3065984	2	4	222	1	0	0	0	0	0	0	0	1	3491	813	29	2		2	CLDN6	16	3065984	Silent	SNP	C	TCGA-B0-5705-01A-11D-1534-10		3065984	87288769	54	13474											
ITGAD	3681	broad.mit.edu;ucsc.edu	37	16	31424171	31424171	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:31424171T>G	ENST00000389202.2	+	15	1769	c.1720T>G	c.(1720-1722)Tcc>Gcc	p.S574A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	574					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.S574A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATTGCCAGCTCCCAGCTCTC	0.592																																																1	Substitution - Missense(1)	kidney(1)											59	60	59					16																	31424171		2197	4300	6497	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1720T>G	16.37:g.31424171T>G	ENSP00000373854:p.Ser574Ala		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	T	8.464	0.855934	0.17106	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.61980	0.06	4.79	3.66	0.41972	.	.	.	.	.	T	0.48840	0.1522	L	0.38649	1.16	0.31014	N	0.718885	B;B	0.11235	0.004;0.004	B;B	0.18561	0.022;0.022	T	0.47209	-0.9135	9	0.28530	T	0.3	.	7.419	0.27061	0.3505:0.0:0.0:0.6494	.	590;574	Q59H14;Q13349	.;ITAD_HUMAN	A	590;574	ENSP00000373854:S574A	ENSP00000373854:S574A	S	+	1	0	ITGAD	31331672	0.031000	0.19500	0.931000	0.37212	0.330000	0.28571	0.339000	0.19875	0.657000	0.30906	0.418000	0.28097	TCC		0.592	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		G	31424171	T	G	31424171	3	3	222	1	0	0	0	0	1	0	0	0	7886	1551	54	5	1778	5	ITGAD	16	31424171	Missense_Mutation	SNP	T	TCGA-B0-5705-01A-11D-1534-10	28358187	31424171	58930582	55	13475											
ZNF423	23090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	49670777	49670777	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:49670777C>T	ENST00000561648.1	-	4	2339	c.2286G>A	c.(2284-2286)gaG>gaA	p.E762E	ZNF423_ENST00000562871.1_Silent_p.E702E|ZNF423_ENST00000563137.2_Silent_p.E702E|ZNF423_ENST00000535559.1_Silent_p.E645E|ZNF423_ENST00000567169.1_Silent_p.E645E|ZNF423_ENST00000262383.2_Silent_p.E762E|ZNF423_ENST00000562520.1_Silent_p.E702E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	762					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E762E(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCAGGTCAGCCTCCTTGCGGA	0.602																																																2	Substitution - coding silent(2)	kidney(2)											129	113	119					16																	49670777		2198	4300	6498	SO:0001819	synonymous_variant	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2286G>A	16.37:g.49670777C>T			O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																				0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		T	49670777	C	T	49670777	2	4	222	1	0	0	0	0	0	0	0	1	17903	680	24	2		2	ZNF423	16	49670777	Silent	SNP	C	TCGA-B0-5705-01A-11D-1534-10	18246606	49670777	40683976	56	13476											
CHD9	80205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53340243	53340243	+	Silent	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:53340243T>C	ENST00000398510.3	+	31	6801	c.6714T>C	c.(6712-6714)aaT>aaC	p.N2238N	CHD9_ENST00000566029.1_Silent_p.N2238N|CHD9_ENST00000447540.1_Silent_p.N2239N|CHD9_ENST00000564845.1_Silent_p.N2238N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2238					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.N2239N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGATGAACAATGGGACACCAG	0.423																																																1	Substitution - coding silent(1)	kidney(1)											85	85	85					16																	53340243		1900	4113	6013	SO:0001819	synonymous_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6714T>C	16.37:g.53340243T>C			B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																					0.423	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		C	53340243	T	C	53340243	2	2	222	1	0	0	0	0	0	0	0	1	3334	1461	51	3		3	CHD9	16	53340243	Silent	SNP	T	TCGA-B0-5705-01A-11D-1534-10	3669466	53340243	37014510	57	13477											
SLC9A5	6553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67304703	67304704	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:67304703_67304704GA>TG	ENST00000299798.11	+	16	2346_2347	c.2281_2282GA>TG	c.(2281-2283)GAg>TGg	p.E761W		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	761					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.E761G(1)|p.E761*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGCAGAAAAGGAGCTCCCCTGG	0.569																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	kidney(2)																																								SO:0001583	missense	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	Exception_encountered	16.37:g.67304703_67304704delinsTG	ENSP00000299798:p.Glu761Trp		A5PKY7|Q9Y626	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000299798.11	37	CCDS42178.1																																																																																				0.569	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			TG	67304704	GA	TG	67304703	3	4	222	1	0	0	0	0	1	0	0	0	14723	1175	41	4	2343	4	SLC9A5	16	67304703	Missense_Mutation	DNP	GA	TCGA-B0-5705-01A-11D-1534-10	13964460	67304703	23050050	58	13478											
ADAMTS18	170692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	77325284	77325284	+	Missense_Mutation	SNP	C	C	T	rs373807615		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:77325284C>T	ENST00000282849.5	-	21	3699	c.3281G>A	c.(3280-3282)cGa>cAa	p.R1094Q	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1094	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1094Q(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGGCATCTTCGCTCTGGGAA	0.522																																																2	Substitution - Missense(2)	kidney(1)|skin(1)											220	224	222					16																	77325284		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3281G>A	16.37:g.77325284C>T	ENSP00000282849:p.Arg1094Gln		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588834	0.86851	.	.	ENSG00000140873	ENST00000282849	T	0.60920	0.15	5.8	4.85	0.62838	.	0.061993	0.64402	D	0.000009	T	0.66237	0.2769	L	0.57130	1.785	0.44500	D	0.997443	D	0.65815	0.995	P	0.62649	0.905	T	0.63093	-0.6714	10	0.23302	T	0.38	.	10.3536	0.43950	0.0:0.8513:0.0:0.1487	.	1094	Q8TE60	ATS18_HUMAN	Q	1094	ENSP00000282849:R1094Q	ENSP00000282849:R1094Q	R	-	2	0	ADAMTS18	75882785	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	5.131000	0.64751	1.470000	0.48102	0.563000	0.77884	CGA		0.522	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77325284	C	T	77325284	3	4	222	1	0	0	0	0	1	0	0	0	263	884	31	1	396	1	ADAMTS18	16	77325284	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	10020581	77325284	13029469	59	13479											
WDR81	124997	broad.mit.edu	37	17	1636960	1636960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr17:1636960delC	ENST00000409644.1	+	7	4629	c.4629delC	c.(4627-4629)gacfs	p.D1543fs	WDR81_ENST00000545662.1_Frame_Shift_Del_p.D174fs|WDR81_ENST00000446363.1_Frame_Shift_Del_p.D182fs|WDR81_ENST00000437219.2_Frame_Shift_Del_p.D340fs|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Frame_Shift_Del_p.D492fs|WDR81_ENST00000419248.1_Frame_Shift_Del_p.D316fs	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1543					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGAGTGGGACCCCCATGGTG	0.677																																																0													26	30	29					17																	1636960		2202	4293	6495	SO:0001589	frameshift_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4629delC	17.37:g.1636960delC	ENSP00000386609:p.Asp1543fs		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Del	DEL	ENST00000409644.1	37	CCDS54062.1																																																																																				0.677	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		-	1636960	C	-	1636960	7	5	222	1	0	1	0	1	0	0	0	0	17335	506	18	0	4717	0	WDR81	17	1636960	Frame_Shift_Del	DEL	C	TCGA-B0-5705-01A-11D-1534-10		1636960	79558250	60	13480											
NCOR1	9611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	16021256	16021256	+	Silent	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr17:16021256A>G	ENST00000268712.3	-	18	2258	c.2001T>C	c.(1999-2001)ttT>ttC	p.F667F	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Silent_p.F558F|NCOR1_ENST00000395851.1_Silent_p.F667F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	667	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.F667F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTTATAGTTAAAATAGAAGT	0.363																																																1	Substitution - coding silent(1)	kidney(1)											156	141	146					17																	16021256		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2001T>C	17.37:g.16021256A>G			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.363	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		G	16021256	A	G	16021256	2	3	222	1	0	0	0	0	0	0	0	1	10237	359	13	3		3	NCOR1	17	16021256	Silent	SNP	A	TCGA-B0-5705-01A-11D-1534-10	14384296	16021256	65173954	61	13481											
STAT3	6774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40485988	40485988	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr17:40485988A>T	ENST00000264657.5	-	9	1189	c.877T>A	c.(877-879)Tac>Aac	p.Y293N	STAT3_ENST00000389272.3_Missense_Mutation_p.Y195N|STAT3_ENST00000585517.1_Missense_Mutation_p.Y293N|STAT3_ENST00000404395.3_Missense_Mutation_p.Y293N|STAT3_ENST00000588969.1_Missense_Mutation_p.Y293N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	293					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y293N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCCCCTTTGTAGGAAACTTTT	0.428									Hyperimmunoglobulin E Recurrent Infection Syndrome																																							1	Substitution - Missense(1)	kidney(1)											69	68	68					17																	40485988		2203	4300	6503	SO:0001583	missense	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.877T>A	17.37:g.40485988A>T	ENSP00000264657:p.Tyr293Asn		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.836526	0.91117	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	T;T;T	0.63744	-0.06;-0.06;-0.06	5.61	5.61	0.85477	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	T	0.78929	0.4361	M	0.75085	2.285	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.984;0.991;0.991	T	0.81326	-0.0983	10	0.66056	D	0.02	-9.9982	15.8096	0.78547	1.0:0.0:0.0:0.0	.	293;293;293	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	N	293;195;293	ENSP00000264657:Y293N;ENSP00000373923:Y195N;ENSP00000384943:Y293N	ENSP00000264657:Y293N	Y	-	1	0	STAT3	37739514	1.000000	0.71417	0.992000	0.48379	0.908000	0.53690	9.297000	0.96120	2.132000	0.65825	0.533000	0.62120	TAC		0.428	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		T	40485988	A	T	40485988	3	4	222	1	0	0	0	0	1	0	0	0	15271	420	15	5	1499	5	STAT3	17	40485988	Missense_Mutation	SNP	A	TCGA-B0-5705-01A-11D-1534-10	24464732	40485988	40709222	62	13482											
CELF4	56853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	34833813	34833813	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr18:34833813C>T	ENST00000591282.1	-	12	1421	c.1422G>A	c.(1420-1422)gtG>gtA	p.V474V	CELF4_ENST00000601019.1_Silent_p.V472V|CELF4_ENST00000334919.5_Silent_p.V436V|CELF4_ENST00000412753.1_Silent_p.V473V|CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000361795.5_Silent_p.V472V|CELF4_ENST00000420428.2_Silent_p.V474V|CELF4_ENST00000591287.1_Silent_p.V472V|CELF4_ENST00000603232.1_Silent_p.V473V			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	474	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.V474V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCTTCAGCTGCACCTTGAGCC	0.682																																																1	Substitution - coding silent(1)	kidney(1)											66	63	64					18																	34833813		2203	4300	6503	SO:0001819	synonymous_variant	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1422G>A	18.37:g.34833813C>T			Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	CCDS32818.1																																																																																				0.682	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		T	34833813	C	T	34833813	2	4	222	1	0	0	0	0	0	0	0	1	3220	697	25	2		2	CELF4	18	34833813	Silent	SNP	C	TCGA-B0-5705-01A-11D-1534-10		34833813	43243435	63	13483											
ZNF555	148254	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2853429	2853429	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:2853429C>A	ENST00000334241.4	+	4	1504	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	ZNF555_ENST00000591539.1_Missense_Mutation_p.Q455K|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q456K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAATGTAAGCAGTGTGGGAA	0.418																																																1	Substitution - Missense(1)	kidney(1)											71	67	68					19																	2853429		2203	4300	6503	SO:0001583	missense	148254			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1366C>A	19.37:g.2853429C>A	ENSP00000334853:p.Gln456Lys		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.57|11.57	1.679461|1.679461	0.29783|0.29783	.|.	.|.	ENSG00000186300|ENSG00000186300	ENST00000382127|ENST00000334241	.|T	.|0.07327	.|3.2	3.22|3.22	-2.78|-2.78	0.05859|0.05859	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.04634	.|0.0126	N|N	0.05078|0.05078	-0.115|-0.115	0.09310|0.09310	N|N	1|1	.|P;P	.|0.38280	.|0.625;0.625	.|B;B	.|0.37304	.|0.246;0.246	.|T	.|0.40327	.|-0.9569	.|9	.|0.48119	.|T	.|0.1	.|.	13.7848|13.7848	0.63104|0.63104	0.0:0.255:0.745:0.0|0.0:0.255:0.745:0.0	.|.	.|456;455	.|Q8NEP9;A8KA89	.|ZN555_HUMAN;.	.|K	-1|456	.|ENSP00000334853:Q456K	.|ENSP00000334853:Q456K	.|Q	+|+	.|1	.|0	ZNF555|ZNF555	2804429|2804429	0.000000|0.000000	0.05858|0.05858	0.197000|0.197000	0.23402|0.23402	0.998000|0.998000	0.95712|0.95712	0.083000|0.083000	0.14871|0.14871	-0.162000|-0.162000	0.10964|0.10964	0.561000|0.561000	0.74099|0.74099	.|CAG		0.418	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		A	2853429	C	A	2853429	3	1	222	1	0	0	0	0	1	0	0	0	17991	711	25	4	1380	4	ZNF555	19	2853429	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10		2853429	56275554	64	13484											
ZNF625	90589	hgsc.bcm.edu	37	19	12256227	12256228	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:12256227_12256228delTG	ENST00000355738.1	-	4	1154_1155	c.805_806delCA	c.(805-807)caafs	p.Q269fs	ZNF625_ENST00000439556.2_Frame_Shift_Del_p.Q335fs|ZNF625_ENST00000455799.1_3'UTR|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000542938.1_Frame_Shift_Del_p.Q269fs			Q96I27	ZN625_HUMAN	zinc finger protein 625	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTTACCACATTGTTTACATTCA	0.475																																																0																																										SO:0001589	frameshift_variant	90589			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"Zinc fingers, C2H2-type", "-"	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.805_806delCA	19.37:g.12256227_12256228delTG	ENSP00000347977:p.Gln269fs		A4FU45|I3L0E9	Frame_Shift_Del	DEL	ENST00000355738.1	37																																																																																					0.475	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		-	12256228	TG	-	12256227	7	5	222	1	0	1	0	1	0	0	0	0	18054	1812	63	0	118	0	ZNF625	19	12256227	Frame_Shift_Del	DEL	TG	TCGA-B0-5705-01A-11D-1534-10	9402798	12256227	46872756	65	13485											
ZNF790	388536	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37310789	37310789	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:37310789G>C	ENST00000356725.4	-	5	577	c.457C>G	c.(457-459)Cag>Gag	p.Q153E	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q153E(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACTGTATGCTGGTTAAAAGTG	0.398																																																1	Substitution - Missense(1)	kidney(1)											139	134	136					19																	37310789		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.457C>G	19.37:g.37310789G>C	ENSP00000349161:p.Gln153Glu			Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	7.867	0.727328	0.15439	.	.	ENSG00000197863	ENST00000356725;ENST00000528994	T;T	0.15952	2.38;6.36	3.01	1.91	0.25777	.	.	.	.	.	T	0.14787	0.0357	L	0.52759	1.655	0.09310	N	1	B	0.23316	0.083	B	0.19946	0.027	T	0.28776	-1.0033	9	0.22109	T	0.4	.	8.4934	0.33115	0.0:0.0:0.7669:0.2331	.	153	Q6PG37	ZN790_HUMAN	E	153	ENSP00000349161:Q153E;ENSP00000435944:Q153E	ENSP00000349161:Q153E	Q	-	1	0	ZNF790	42002629	0.001000	0.12720	0.003000	0.11579	0.019000	0.09904	0.510000	0.22723	0.547000	0.28938	0.467000	0.42956	CAG		0.398	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		C	37310789	G	C	37310789	3	2	222	1	0	0	0	0	1	0	0	0	18167	1357	47	4	1457	4	ZNF790	19	37310789	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10	25054562	37310789	21818194	66	13486											
EXOSC5	56915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41895707	41895707	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:41895707C>A	ENST00000221233.4	-	4	638	c.488G>T	c.(487-489)gGg>gTg	p.G163V	CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.G125V|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	163					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)	p.G163V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CACGAGGGTCCCATCAGAGTC	0.612																																																1	Substitution - Missense(1)	kidney(1)											104	103	103					19																	41895707		2203	4300	6503	SO:0001583	missense	56915			AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"exosome component Rrp46"	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.488G>T	19.37:g.41895707C>A	ENSP00000221233:p.Gly163Val		Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273797	0.59649	.	.	ENSG00000077348	ENST00000221233	T	0.52057	0.68	5.03	5.03	0.67393	Exoribonuclease, phosphorolytic domain 2 (2);	0.103239	0.64402	D	0.000003	T	0.72036	0.3411	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76154	-0.3063	10	0.87932	D	0	-25.237	17.6538	0.88172	0.0:1.0:0.0:0.0	.	163	Q9NQT4	EXOS5_HUMAN	V	163	ENSP00000221233:G163V	ENSP00000221233:G163V	G	-	2	0	EXOSC5	46587547	1.000000	0.71417	0.974000	0.42286	0.270000	0.26580	4.625000	0.61262	2.774000	0.95407	0.650000	0.86243	GGG		0.612	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		A	41895707	C	A	41895707	3	1	222	1	0	0	0	0	1	0	0	0	5320	623	22	4	231	4	EXOSC5	19	41895707	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	4584918	41895707	17233276	67	13487											
FTL	2512	broad.mit.edu;hgsc.bcm.edu	37	19	49468840	49468840	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:49468840C>A	ENST00000331825.6	+	1	283	c.76C>A	c.(76-78)Cag>Aag	p.Q26K	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	26	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)	p.Q26K(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TTTGTACCTGCAGGCCTCCTA	0.597																																																1	Substitution - Missense(1)	kidney(1)											67	67	67					19																	49468840		2203	4300	6503	SO:0001583	missense	2512			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3"	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.76C>A	19.37:g.49468840C>A	ENSP00000366525:p.Gln26Lys		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	ENST00000331825.6	37	CCDS33070.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452804	0.63290	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.63417	-0.04	5.14	4.1	0.47936	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.563352	0.18535	N	0.138383	T	0.58119	0.2100	M	0.67625	2.065	0.27612	N	0.948623	B;P	0.36577	0.323;0.558	B;B	0.36418	0.224;0.182	T	0.59322	-0.7476	10	0.66056	D	0.02	.	8.4604	0.32925	0.0:0.8199:0.0:0.1801	.	26;26	P02792;F5H1X1	FRIL_HUMAN;.	K	26	ENSP00000366525:Q26K	ENSP00000366525:Q26K	Q	+	1	0	FTL	54160652	0.392000	0.25229	0.998000	0.56505	0.921000	0.55340	0.590000	0.23954	1.489000	0.48450	0.655000	0.94253	CAG		0.597	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146		A	49468840	C	A	49468840	3	1	222	1	0	0	0	0	1	0	0	0	6086	711	25	4	78	4	FTL	19	49468840	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	7573133	49468840	9660143	68	13488											
RPS11	6205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50001200	50001200	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:50001200A>G	ENST00000270625.2	+	4	333	c.250A>G	c.(250-252)Agg>Ggg	p.R84G	RPS11_ENST00000596873.1_Missense_Mutation_p.R84G|SNORD35B_ENST00000363660.1_RNA|RPS11_ENST00000594493.1_Missense_Mutation_p.R5G|MIR150_ENST00000385048.1_RNA|hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000599561.1_Missense_Mutation_p.E49G	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	84					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.R84G(1)		kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GAAGATGCAGAGGACCATTGT	0.567																																																1	Substitution - Missense(1)	kidney(1)											96	76	83					19																	50001200		2203	4300	6503	SO:0001583	missense	6205			AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"S ribosomal proteins"	10384	protein-coding gene	gene with protein product	"40S ribosomal protein S11"	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.250A>G	19.37:g.50001200A>G	ENSP00000270625:p.Arg84Gly		B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	37	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360050	0.82353	.	.	ENSG00000142534	ENST00000270625	.	.	.	4.89	3.81	0.43845	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.77948	0.4207	M	0.91300	3.195	0.80722	D	1	D	0.58970	0.984	P	0.58577	0.841	T	0.81861	-0.0738	8	.	.	.	-48.1598	9.4641	0.38802	0.8217:0.1783:0.0:0.0	.	84	P62280	RS11_HUMAN	G	84	.	.	R	+	1	2	RPS11	54693012	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.230000	0.32612	1.830000	0.53286	0.459000	0.35465	AGG		0.567	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	NM_001015		G	50001200	A	G	50001200	3	3	222	1	0	0	0	0	1	0	0	0	13627	295	11	3	264	3	RPS11	19	50001200	Missense_Mutation	SNP	A	TCGA-B0-5705-01A-11D-1534-10	532360	50001200	9127783	69	13489											
USP29	57663	hgsc.bcm.edu;ucsc.edu	37	19	57642738	57642739	+	Missense_Mutation	DNP	CG	CG	AT	rs138755535	byFrequency	TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:57642738_57642739CG>AT	ENST00000254181.4	+	4	3149_3150	c.2695_2696CG>AT	c.(2695-2697)CGg>ATg	p.R899M	USP29_ENST00000598197.1_Missense_Mutation_p.R899M|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	899					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGAACTCTCGGCTACCTAGC	0.495																																																0																																										SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		Exception_encountered	19.37:g.57642738_57642739delinsAT	ENSP00000254181:p.Arg899Met			Silent|Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1																																																																																				0.495	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			AT	57642739	CG	AT	57642738	3	1	222	1	0	0	0	0	1	0	0	0	17064	875	31	4	2697	4	USP29	19	57642738	Missense_Mutation	DNP	CG	TCGA-B0-5705-01A-11D-1534-10	7641538	57642738	1486245	70	13490	102	2									
USP29	57663	hgsc.bcm.edu;ucsc.edu	37	19	57642746	57642746	+	Silent	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:57642746T>C	ENST00000254181.4	+	4	3157	c.2703T>C	c.(2701-2703)ccT>ccC	p.P901P	USP29_ENST00000598197.1_Silent_p.P901P|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	901					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCGGCTACCTAGCACACAGG	0.493																																																0													59	66	64					19																	57642746		2203	4300	6503	SO:0001819	synonymous_variant	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2703T>C	19.37:g.57642746T>C				Silent	SNP	ENST00000254181.4	37	CCDS33124.1																																																																																				0.493	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			C	57642746	T	C	57642746	2	2	222	1	0	0	0	0	0	0	0	1	17064	1509	53	3		3	USP29	19	57642746	Silent	SNP	T	TCGA-B0-5705-01A-11D-1534-10	8	57642746	1486237	71	13491	102	2									
SLC27A5	10998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	59010218	59010218	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:59010218C>G	ENST00000263093.2	-	9	1939	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D	SLC27A5_ENST00000601355.1_Missense_Mutation_p.E526D|SLC27A5_ENST00000594786.1_Missense_Mutation_p.E15D|SLC27A5_ENST00000599700.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	610					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.E610D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGTACAACTTCTCCCCGTCGA	0.627																																																1	Substitution - Missense(1)	kidney(1)											72	68	69					19																	59010218		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1830G>C	19.37:g.59010218C>G	ENSP00000263093:p.Glu610Asp		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251419	0.39797	.	.	ENSG00000083807	ENST00000263093	T	0.60040	0.22	4.99	3.95	0.45737	.	1.077370	0.07058	N	0.833279	T	0.41673	0.1169	N	0.13168	0.305	0.19300	N	0.999974	B	0.06786	0.001	B	0.09377	0.004	T	0.25363	-1.0134	10	0.32370	T	0.25	-15.1904	9.4178	0.38532	0.0:0.9008:0.0:0.0992	.	610	Q9Y2P5	S27A5_HUMAN	D	610	ENSP00000263093:E610D	ENSP00000263093:E610D	E	-	3	2	SLC27A5	63702030	0.000000	0.05858	0.435000	0.26784	0.601000	0.36947	0.011000	0.13264	1.229000	0.43630	0.650000	0.86243	GAG		0.627	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		G	59010218	C	G	59010218	3	3	222	1	0	0	0	0	1	0	0	0	14535	912	32	4	250	4	SLC27A5	19	59010218	Missense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	1367472	59010218	118765	72	13492											
PLAGL2	5326	broad.mit.edu;hgsc.bcm.edu	37	20	30784297	30784297	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr20:30784297C>T	ENST00000246229.4	-	3	1713	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	483					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L483L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGTGCTACTCAGGCCAGACG	0.562																																					Colon(163;15 1893 11280 16306 47518)											1	Substitution - coding silent(1)	kidney(1)											56	59	58					20																	30784297		2203	4300	6503	SO:0001819	synonymous_variant	5326				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1449G>A	20.37:g.30784297C>T			A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	37	CCDS13197.1																																																																																				0.562	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		T	30784297	C	T	30784297	2	4	222	1	0	0	0	0	0	0	0	1	12022	813	29	2		2	PLAGL2	20	30784297	Silent	SNP	C	TCGA-B0-5705-01A-11D-1534-10		30784297	32241223	73	13493											
PFDN4	5203	broad.mit.edu;ucsc.edu	37	20	52835595	52835595	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr20:52835595G>T	ENST00000371419.2	+	4	565	c.311G>T	c.(310-312)aGa>aTa	p.R104I	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	104					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)	p.R104I(1)		endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			TTAGAATCCAGAGTGGAATCA	0.328																																																1	Substitution - Missense(1)	kidney(1)											40	40	40					20																	52835595		2199	4299	6498	SO:0001583	missense	5203			U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"prefoldin 4"			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.311G>T	20.37:g.52835595G>T	ENSP00000360473:p.Arg104Ile		Q5TD11|Q92779	Missense_Mutation	SNP	ENST00000371419.2	37	CCDS13445.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892812	0.72524	.	.	ENSG00000101132	ENST00000371419	T	0.43688	0.94	5.58	5.58	0.84498	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	L	0.58669	1.825	0.80722	D	1	P	0.35527	0.507	B	0.36766	0.232	T	0.44345	-0.9334	10	0.54805	T	0.06	-18.7648	18.9044	0.92454	0.0:0.0:1.0:0.0	.	104	Q9NQP4	PFD4_HUMAN	I	104	ENSP00000360473:R104I	ENSP00000360473:R104I	R	+	2	0	PFDN4	52269002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.876000	0.63079	2.786000	0.95864	0.655000	0.94253	AGA		0.328	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079771.2	NM_002623		T	52835595	G	T	52835595	3	4	222	1	0	0	0	0	1	0	0	0	11759	942	33	4	325	4	PFDN4	20	52835595	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10	22051298	52835595	10189925	74	13494											
RBM11	54033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	15599585	15599585	+	Nonsense_Mutation	SNP	C	C	T	rs201431914		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr21:15599585C>T	ENST00000400577.3	+	5	826	c.817C>T	c.(817-819)Cga>Tga	p.R273*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	273					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)	p.R273*(1)		endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CCAAAAGTTCCGAAAGTCTAA	0.338																																																1	Substitution - Nonsense(1)	kidney(1)						C	stop/ARG	0,3792		0,0,1896	96	97	96		817	1.6	0.8	21		96	3,8239		0,3,4118	yes	stop-gained	RBM11	NM_144770.3		0,3,6014	TT,TC,CC		0.0364,0.0,0.0249		273/282	15599585	3,12031	1896	4121	6017	SO:0001587	stop_gained	54033			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.817C>T	21.37:g.15599585C>T	ENSP00000383421:p.Arg273*		Q6YNC2|Q8NBA1|Q8NFF6	Nonsense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385412	0.61956	0.0	3.64E-4	ENSG00000185272	ENST00000400577	.	.	.	4.89	1.64	0.23874	.	0.798663	0.10856	N	0.626636	.	.	.	.	.	.	0.34940	D	0.750254	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0808	12.3719	0.55260	0.6757:0.3243:0.0:0.0	.	.	.	.	X	273	.	ENSP00000383421:R273X	R	+	1	2	RBM11	14521456	0.258000	0.24033	0.776000	0.31678	0.630000	0.37929	0.628000	0.24522	0.646000	0.30693	-0.188000	0.12872	CGA		0.338	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		T	15599585	C	T	15599585	4	4	222	1	0	0	0	0	0	1	0	0	13118	644	23	1	835	1	RBM11	21	15599585	Nonsense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10		15599585	32530310	75	13495											
CXADR	1525	hgsc.bcm.edu;ucsc.edu	37	21	18931362	18931363	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr21:18931362_18931363delTG	ENST00000284878.7	+	4	1232_1233	c.484_485delTG	c.(484-486)tgtfs	p.C162fs	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000306618.10_Frame_Shift_Del_p.C162fs|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400169.1_Frame_Shift_Del_p.C162fs|CXADR_ENST00000400166.1_Frame_Shift_Del_p.C162fs	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	162	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TAAGATAAAATGTGAACCAAAA	0.356																																																0																																										SO:0001589	frameshift_variant	1525			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.484_485delTG	21.37:g.18931364_18931365delTG	ENSP00000284878:p.Cys162fs		B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Frame_Shift_Del	DEL	ENST00000284878.7	37	CCDS33519.1																																																																																				0.356	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			-	18931363	TG	-	18931362	7	5	222	1	0	1	0	1	0	0	0	0	4078	1464	51	0	498	0	CXADR	21	18931362	Frame_Shift_Del	DEL	TG	TCGA-B0-5705-01A-11D-1534-10	3331777	18931362	29198533	76	13496											
KRTAP22-1	337979	broad.mit.edu;ucsc.edu	37	21	31973474	31973474	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr21:31973474G>T	ENST00000334680.2	+	1	61	c.35G>T	c.(34-36)gGc>gTc	p.G12V	KRTAP6-2_ENST00000334897.3_5'Flank	NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	12						intermediate filament (GO:0005882)		p.G12V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						GGTGGCCAGGGCTATGCCAAA	0.463																																																2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)											171	157	161					21																	31973474		2203	4300	6503	SO:0001583	missense	337979			AP001708	CCDS13601.1	21q22.1	2011-02-10			ENSG00000186924	ENSG00000186924		"Keratin associated proteins"	18947	protein-coding gene	gene with protein product						12359730	Standard	NM_181620		Approved	KAP22.1	uc011add.2	Q3MIV0	OTTHUMG00000057778	ENST00000334680.2:c.35G>T	21.37:g.31973474G>T	ENSP00000333887:p.Gly12Val			Missense_Mutation	SNP	ENST00000334680.2	37	CCDS13601.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249594	0.22880	.	.	ENSG00000186924	ENST00000334680	T	0.14893	2.47	4.82	1.03	0.20045	.	0.000000	0.44097	D	0.000491	T	0.31451	0.0797	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.65987	0.94	T	0.06127	-1.0844	9	0.87932	D	0	.	6.9726	0.24656	0.37:0.0:0.63:0.0	.	12	Q3MIV0	KR221_HUMAN	V	12	ENSP00000333887:G12V	ENSP00000333887:G12V	G	+	2	0	KRTAP22-1	30895345	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.294000	0.19047	0.087000	0.17167	-0.136000	0.14681	GGC		0.463	KRTAP22-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128230.2			T	31973474	G	T	31973474	3	4	222	1	0	0	0	0	1	0	0	0	8542	1203	42	4	37	4	KRTAP22-1	21	31973474	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10	13042112	31973474	16156421	77	13497											
HSF2BP	11077	hgsc.bcm.edu;ucsc.edu	37	21	45053272	45053272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr21:45053272C>A	ENST00000291560.2	-	5	653	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	HSF2BP_ENST00000542962.1_Nonsense_Mutation_p.E33*	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	108					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		TGCTTCGCTTCATTCAACTGC	0.428																																																0													79	67	71					21																	45053272		2203	4300	6503	SO:0001587	stop_gained	11077			AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.322G>T	21.37:g.45053272C>A	ENSP00000291560:p.Glu108*		B4DX36	Nonsense_Mutation	SNP	ENST00000291560.2	37	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	35	5.549657	0.96501	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	4.95	4.95	0.65309	.	0.195612	0.43747	D	0.000534	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	13.189	0.59700	0.1596:0.8404:0.0:0.0	.	.	.	.	X	108;33;108	.	ENSP00000291560:E108X	E	-	1	0	HSF2BP	43877700	1.000000	0.71417	0.559000	0.28332	0.932000	0.56968	3.893000	0.56243	2.282000	0.76494	0.585000	0.79938	GAA		0.428	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		A	45053272	C	A	45053272	4	1	222	1	0	0	0	0	0	1	0	0	7399	835	29	4	702	4	HSF2BP	21	45053272	Nonsense_Mutation	SNP	C	TCGA-B0-5705-01A-11D-1534-10	13079798	45053272	3076623	78	13498											
MTMR3	8897	hgsc.bcm.edu;ucsc.edu	37	22	30415808	30415816	+	In_Frame_Del	DEL	CCCTCTCTT	CCCTCTCTT	-	rs142760168		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	CCCTCTCTT	CCCTCTCTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr22:30415808_30415816delCCCTCTCTT	ENST00000401950.2	+	17	2502_2510	c.2160_2168delCCCTCTCTT	c.(2158-2169)gaccctctctta>gaa	p.720_723DPLL>E	MTMR3_ENST00000333027.3_In_Frame_Del_p.720_723DPLL>E|MTMR3_ENST00000323630.5_In_Frame_Del_p.584_587DPLL>E|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000406629.1_In_Frame_Del_p.720_723DPLL>E|MTMR3_ENST00000351488.3_In_Frame_Del_p.720_723DPLL>E	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	720					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTAAAGAGGACCCTCTCTTAGAAAAGGAG	0.545																																																0																																										SO:0001651	inframe_deletion	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2160_2168delCCCTCTCTT	22.37:g.30415808_30415816delCCCTCTCTT	ENSP00000384651:p.Asp720_Leu723delinsGlu		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	In_Frame_Del	DEL	ENST00000401950.2	37	CCDS13870.1																																																																																				0.545	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		-	30415816	CCCTCTCTT	-	30415808	7	5	222	1	0	1	0	1	0	0	0	0	9947	506	18	0	2218	0	MTMR3	22	30415808	In_Frame_Del	DEL	CCCTCTCTT	TCGA-B0-5705-01A-11D-1534-10		30415808	20888758	79	13499											
CHKB	1120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	51018844	51018844	+	Splice_Site	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr22:51018844T>C	ENST00000406938.2	-	6	896	c.679A>G	c.(679-681)Aag>Gag	p.K227E	CPT1B_ENST00000405237.3_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000395650.2_5'Flank|CHKB_ENST00000463053.1_5'UTR|CPT1B_ENST00000434492.2_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	227					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)	p.K227E(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TCTAGTAACTTCCTACAGGGG	0.552																																																1	Substitution - Missense(1)	kidney(1)											162	166	165					22																	51018844		2203	4300	6503	SO:0001630	splice_region_variant	1120			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"choline kinase-like"	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.678-1A>G	22.37:g.51018844T>C			A0PJM6|Q13388	Missense_Mutation	SNP	ENST00000406938.2	37	CCDS14099.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.512876	0.27123	.	.	ENSG00000100288	ENST00000406938	T	0.56103	0.48	4.95	4.95	0.65309	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.426776	0.27901	N	0.017396	T	0.38188	0.1031	L	0.28400	0.85	0.35210	D	0.775078	B	0.26258	0.145	B	0.29663	0.105	T	0.42310	-0.9459	10	0.11794	T	0.64	-13.281	10.9162	0.47137	0.0:0.0:0.0:1.0	.	227	Q9Y259	CHKB_HUMAN	E	227	ENSP00000384400:K227E	ENSP00000384400:K227E	K	-	1	0	CHKB	49365710	0.970000	0.33590	0.997000	0.53966	0.514000	0.34195	0.608000	0.24223	2.072000	0.62099	0.459000	0.35465	AAG		0.552	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198	Missense_Mutation	C	51018844	T	C	51018844	5	2	222	1	0	0	0	0	0	0	1	0	3350	1797	62	3	532	3	CHKB	22	51018844	Splice_Site	SNP	T	TCGA-B0-5705-01A-11D-1534-10	20603036	51018844	285722	80	13500											
PRPS1	5631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	106885678	106885678	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chrX:106885678G>A	ENST00000372435.4	+	4	610	c.488G>A	c.(487-489)aGg>aAg	p.R163K	PRPS1_ENST00000543248.1_Missense_Mutation_p.R163K|PRPS1_ENST00000372418.1_Missense_Mutation_p.R63K|PRPS1_ENST00000372428.4_Missense_Mutation_p.R96K	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	163					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.R163K(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCTGAGTGGAGGAACTGCACT	0.433																																																1	Substitution - Missense(1)	kidney(1)											158	133	142					X																	106885678		2203	4300	6503	SO:0001583	missense	5631			X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"PRS I", "ribose-phosphate diphosphokinase 1"	311850	"deafness, X-linked 2, perceptive, congenital"	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.488G>A	X.37:g.106885678G>A	ENSP00000361512:p.Arg163Lys		B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	7.117	0.577254	0.13686	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.36	4.51	3.63	0.41609	Phosphoribosyltransferase (1);	0.098387	0.64402	N	0.000002	T	0.70334	0.3212	N	0.02765	-0.5	0.41518	D	0.988389	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.64659	-0.6355	10	0.07325	T	0.83	.	3.9676	0.09439	0.3401:0.0:0.6599:0.0	.	163;163	Q53FW2;P60891	.;PRPS1_HUMAN	K	163;96;163;63	ENSP00000361512:R163K;ENSP00000361505:R96K;ENSP00000443185:R163K;ENSP00000361495:R63K	ENSP00000361495:R63K	R	+	2	0	PRPS1	106772334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.316000	0.59178	2.174000	0.68829	0.544000	0.68410	AGG		0.433	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			A	106885678	G	A	106885678	3	1	222	1	0	0	0	0	1	0	0	0	12583	1000	35	2	502	2	PRPS1	23	106885678	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10		106885678	48384882	81	13501											
BCORL1	63035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129147106	129147106	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chrX:129147106G>T	ENST00000218147.7	+	4	555	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	BCORL1_ENST00000359304.2_Missense_Mutation_p.D120Y|BCORL1_ENST00000303743.5_Missense_Mutation_p.D120Y|BCORL1_ENST00000540052.1_Missense_Mutation_p.D120Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	120					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D120Y(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCCCAGGAGACGGGCTCAA	0.597																																																1	Substitution - Missense(1)	kidney(1)											32	27	29					X																	129147106		2203	4299	6502	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.358G>T	X.37:g.129147106G>T	ENSP00000218147:p.Asp120Tyr		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741633	0.49151	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.52754	0.67;1.03;0.65;0.67	5.28	5.28	0.74379	.	0.000000	0.37348	N	0.002126	T	0.49915	0.1585	N	0.14661	0.345	0.33337	D	0.569319	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.936	T	0.63919	-0.6528	10	0.62326	D	0.03	-16.8593	12.4048	0.55432	0.0825:0.0:0.9175:0.0	.	120;120	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	Y	120	ENSP00000218147:D120Y;ENSP00000307541:D120Y;ENSP00000352253:D120Y;ENSP00000437775:D120Y	ENSP00000218147:D120Y	D	+	1	0	BCORL1	128974787	1.000000	0.71417	0.913000	0.36048	0.981000	0.71138	3.446000	0.52928	2.203000	0.70933	0.529000	0.55759	GAC		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		T	129147106	G	T	129147106	3	4	222	1	0	0	0	0	1	0	0	0	1387	942	33	4	368	4	BCORL1	23	129147106	Missense_Mutation	SNP	G	TCGA-B0-5705-01A-11D-1534-10	22261428	129147106	26123454	82	13502											
GABRE	2564	hgsc.bcm.edu;ucsc.edu	37	X	151128394	151128395	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chrX:151128394_151128395insT	ENST00000370328.3	-	6	753_754	c.700_701insA	c.(700-702)atcfs	p.I234fs	MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Frame_Shift_Ins_p.I41fs|MIR224_ENST00000384889.1_RNA|GABRE_ENST00000370325.1_Frame_Shift_Ins_p.I234fs	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	234					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTCTCATTGATTTCAAGCTTG	0.426																																																0																																										SO:0001589	frameshift_variant	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.701dupA	X.37:g.151128397_151128397dupT	ENSP00000359353:p.Ile234fs		E7ET93|O15345|O15346|Q6PCD2|Q99520	Frame_Shift_Ins	INS	ENST00000370328.3	37	CCDS14703.1																																																																																				0.426	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		T	151128395	-	T	151128394	7	5	222	1	0	1	1	0	0	0	0	0	6172	333	12	0	835	0	GABRE	23	151128394	Frame_Shift_Ins	INS	-	TCGA-B0-5705-01A-11D-1534-10	21981288	151128394	4142166	83	13503											
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16256538	16256538	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:16256538C>T	ENST00000375759.3	+	11	4007	c.3803C>T	c.(3802-3804)tCc>tTc	p.S1268F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1268					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S1268F(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGACATGGTTCCTTCCATGAA	0.458																																																1	Substitution - Missense(1)	kidney(1)											88	92	90					1																	16256538		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3803C>T	1.37:g.16256538C>T	ENSP00000364912:p.Ser1268Phe		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	8.481	0.859725	0.17178	.	.	ENSG00000065526	ENST00000375759	T	0.10005	2.92	5.02	5.02	0.67125	.	.	.	.	.	T	0.07638	0.0192	N	0.14661	0.345	0.39167	D	0.96252	B	0.21381	0.055	B	0.15052	0.012	T	0.19943	-1.0290	9	0.59425	D	0.04	-12.8035	12.906	0.58152	0.0:0.9224:0.0:0.0776	.	1268	Q96T58	MINT_HUMAN	F	1268	ENSP00000364912:S1268F	ENSP00000364912:S1268F	S	+	2	0	SPEN	16129125	0.993000	0.37304	0.996000	0.52242	0.986000	0.74619	2.587000	0.46128	2.626000	0.88956	0.557000	0.71058	TCC		0.458	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16256538	C	T	16256538	3	4	223	1	0	0	0	0	1	0	0	0	15043	855	30	2	3845	2	SPEN	1	16256538	Missense_Mutation	SNP	C	TCGA-B0-5706-01A-11D-1534-10		16256538	232994083	1	13504											
MAP3K6	9064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27684801	27684801	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:27684801G>A	ENST00000493901.1	-	22	3025	c.2786C>T	c.(2785-2787)tCt>tTt	p.S929F	MAP3K6_ENST00000374040.3_Missense_Mutation_p.S921F|MAP3K6_ENST00000357582.2_Missense_Mutation_p.S929F	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	929					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)	p.S921F(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGACTGGCAGAAGGGGCATC	0.652											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											78	89	85					1																	27684801		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2786C>T	1.37:g.27684801G>A	ENSP00000419591:p.Ser929Phe	796	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	5.106	0.205184	0.09704	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	T;T;T	0.26373	1.74;1.74;1.74	4.82	4.82	0.62117	Protein kinase-like domain (1);	.	.	.	.	T	0.21674	0.0522	N	0.24115	0.695	0.09310	N	1	P;P	0.44195	0.828;0.736	B;B	0.42593	0.392;0.219	T	0.09840	-1.0656	9	0.59425	D	0.04	.	13.2718	0.60165	0.0:0.0:1.0:0.0	.	921;929	O95382-3;O95382	.;M3K6_HUMAN	F	921;929;652;929	ENSP00000363152:S921F;ENSP00000419591:S929F;ENSP00000350195:S929F	ENSP00000350195:S929F	S	-	2	0	MAP3K6	27557388	0.920000	0.31207	0.089000	0.20774	0.441000	0.31987	2.931000	0.48932	2.525000	0.85131	0.650000	0.86243	TCT		0.652	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		A	27684801	G	A	27684801	3	1	223	1	0	0	0	0	1	0	0	0	9256	942	33	2	1116	2	MAP3K6	1	27684801	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	11428263	27684801	221565820	2	13505											
ZYG11B	79699	hgsc.bcm.edu;ucsc.edu	37	1	53250580	53250580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:53250580delT	ENST00000294353.6	+	5	1269	c.1124delT	c.(1123-1125)atgfs	p.M375fs	ZYG11B_ENST00000443756.2_Frame_Shift_Del_p.M375fs|ZYG11B_ENST00000545132.1_Frame_Shift_Del_p.M375fs	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	375										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AACCACCCTATGAATTTGCCA	0.448																																																0													99	101	101					1																	53250580		2203	4300	6503	SO:0001589	frameshift_variant	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1124delT	1.37:g.53250580delT	ENSP00000294353:p.Met375fs		Q8N2X3|Q9H8L8	Frame_Shift_Del	DEL	ENST00000294353.6	37	CCDS30717.1																																																																																				0.448	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		-	53250580	T	-	53250580	7	5	223	1	0	1	0	1	0	0	0	0	18258	1464	51	0	1142	0	ZYG11B	1	53250580	Frame_Shift_Del	DEL	T	TCGA-B0-5706-01A-11D-1534-10	25565779	53250580	196000041	3	13506											
DNAJC6	9829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	65831861	65831861	+	Silent	SNP	T	T	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:65831861T>C	ENST00000395325.3	+	4	511	c.354T>C	c.(352-354)acT>acC	p.T118T	DNAJC6_ENST00000371069.4_Silent_p.T175T|DNAJC6_ENST00000263441.7_Silent_p.T105T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	118	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.T118T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CTTATCGAACTGCCAAGTTTC	0.438																																																1	Substitution - coding silent(1)	kidney(1)											147	141	143					1																	65831861		2203	4300	6503	SO:0001819	synonymous_variant	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.354T>C	1.37:g.65831861T>C			B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	CCDS30739.1																																																																																				0.438	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			C	65831861	T	C	65831861	2	2	223	1	0	0	0	0	0	0	0	1	4655	1567	55	3		3	DNAJC6	1	65831861	Silent	SNP	T	TCGA-B0-5706-01A-11D-1534-10	12581281	65831861	183418760	4	13507											
ST6GALNAC5	81849	broad.mit.edu;hgsc.bcm.edu	37	1	77510087	77510087	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:77510087C>T	ENST00000477717.1	+	3	695	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	154					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.R154C(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GAGGATCCTCCGCAACCGCCA	0.637																																																1	Substitution - Missense(1)	kidney(1)											66	57	60					1																	77510087		2203	4300	6503	SO:0001583	missense	81849				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.460C>T	1.37:g.77510087C>T	ENSP00000417583:p.Arg154Cys		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113814	0.77210	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.31247	1.5	5.72	5.72	0.89469	.	0.201290	0.52532	D	0.000072	T	0.52224	0.1721	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.59434	-0.7455	10	0.72032	D	0.01	-9.4392	13.3637	0.60671	0.2753:0.7246:0.0:0.0	.	154	Q9BVH7	SIA7E_HUMAN	C	154;64	ENSP00000417583:R154C	ENSP00000436263:R154C	R	+	1	0	ST6GALNAC5	77282675	0.997000	0.39634	1.000000	0.80357	0.877000	0.50540	2.497000	0.45354	2.693000	0.91896	0.655000	0.94253	CGC		0.637	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		T	77510087	C	T	77510087	3	4	223	1	0	0	0	0	1	0	0	0	15232	652	23	1	470	1	ST6GALNAC5	1	77510087	Missense_Mutation	SNP	C	TCGA-B0-5706-01A-11D-1534-10	11678226	77510087	171740534	5	13508											
RPF1	80135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	84945169	84945169	+	Silent	SNP	C	C	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:84945169C>A	ENST00000370654.5	+	1	220	c.205C>A	c.(205-207)Cgg>Agg	p.R69R	RPF1_ENST00000370656.1_Silent_p.R69R	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	69					rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.R69R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						AATGTTCACGCGGTGGAAACA	0.612																																																1	Substitution - coding silent(1)	kidney(1)											26	31	30					1																	84945169		2203	4299	6502	SO:0001819	synonymous_variant	80135			AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"RNA processing factor 1", "ribosome production factor 1"		"brix domain containing 5"	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.205C>A	1.37:g.84945169C>A			Q5VSK7|Q6AHX1|Q8WXZ8	Silent	SNP	ENST00000370654.5	37	CCDS695.1																																																																																				0.612	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		A	84945169	C	A	84945169	2	1	223	1	0	0	0	0	0	0	0	1	13552	759	27	4		4	RPF1	1	84945169	Silent	SNP	C	TCGA-B0-5706-01A-11D-1534-10	7435082	84945169	164305452	6	13509											
IGSF3	3321	broad.mit.edu	37	1	117131468	117131468	+	Missense_Mutation	SNP	C	C	T	rs200127721		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:117131468C>T	ENST00000369486.3	-	8	3053	c.2288G>A	c.(2287-2289)gGc>gAc	p.G763D	IGSF3_ENST00000318837.6_Missense_Mutation_p.G783D|IGSF3_ENST00000369483.1_Missense_Mutation_p.G783D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	763	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G763D(1)|p.G783D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCTGAACAGGCCCCCCGACAC	0.617																																																2	Substitution - Missense(2)	kidney(2)											43	39	40					1																	117131468		2203	4296	6499	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2288G>A	1.37:g.117131468C>T	ENSP00000358498:p.Gly763Asp		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032490	0.35893	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.22743	1.94;1.94;1.94	3.87	3.87	0.44632	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198206	0.45126	D	0.000400	T	0.08846	0.0219	N	0.11724	0.165	0.47905	D	0.999542	P;D;P	0.60160	0.835;0.987;0.863	P;P;P	0.60541	0.49;0.876;0.624	T	0.05115	-1.0905	10	0.02654	T	1	-33.5155	11.2061	0.48771	0.0:1.0:0.0:0.0	.	783;763;783	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	D	763;783;783	ENSP00000358498:G763D;ENSP00000358495:G783D;ENSP00000321184:G783D	ENSP00000321184:G783D	G	-	2	0	IGSF3	116932991	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	4.232000	0.58645	1.977000	0.57605	0.462000	0.41574	GGC		0.617	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117131468	C	T	117131468	3	4	223	1	0	0	0	0	1	0	0	0	7603	739	26	2	1312	2	IGSF3	1	117131468	Missense_Mutation	SNP	C	TCGA-B0-5706-01A-11D-1534-10	32186299	117131468	132119153	7	13510											
FLG	2312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152282336	152282336	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:152282336T>A	ENST00000368799.1	-	3	5061	c.5026A>T	c.(5026-5028)Agt>Tgt	p.S1676C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1676	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1676C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTGGACTTGACCTTGCC	0.562									Ichthyosis																																							1	Substitution - Missense(1)	kidney(1)											327	327	327					1																	152282336		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5026A>T	1.37:g.152282336T>A	ENSP00000357789:p.Ser1676Cys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.278291	0.23307	.	.	ENSG00000143631	ENST00000368799	T	0.09350	2.99	3.44	-0.399	0.12415	.	.	.	.	.	T	0.12008	0.0292	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.07404	-1.0774	9	0.66056	D	0.02	.	5.927	0.19118	0.0:0.3866:0.0:0.6134	.	1676	P20930	FILA_HUMAN	C	1676	ENSP00000357789:S1676C	ENSP00000357789:S1676C	S	-	1	0	FLG	150548960	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.179000	0.03090	-0.174000	0.10743	0.254000	0.18369	AGT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152282336	T	A	152282336	3	1	223	1	0	0	0	0	1	0	0	0	5924	1609	56	5	7163	5	FLG	1	152282336	Missense_Mutation	SNP	T	TCGA-B0-5706-01A-11D-1534-10	35150868	152282336	96968285	8	13511											
BCAN	63827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156628842	156628843	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr1:156628842_156628843GG>AC	ENST00000329117.5	+	14	2988_2989	c.2652_2653GG>AC	c.(2650-2655)gaGGac>gaACac	p.D885H	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	885					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.E884E(1)|p.D885H(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCCAGAGGAGGACCCAGAAGG	0.634																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	Exception_encountered	1.37:g.156628842_156628843delinsAC	ENSP00000331210:p.Asp885His		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent|Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1																																																																																				0.634	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		AC	156628843	GG	AC	156628842	3	1	223	1	0	0	0	0	1	0	0	0	1345	991	35	2	2776	2	BCAN	1	156628842	Missense_Mutation	DNP	GG	TCGA-B0-5706-01A-11D-1534-10	4346506	156628842	92621779	9	13512											
XYLB	9942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38390050	38390050	+	Missense_Mutation	SNP	G	G	T	rs146884889		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr3:38390050G>T	ENST00000207870.3	+	2	157	c.67G>T	c.(67-69)Gtt>Ttt	p.V23F	XYLB_ENST00000542835.1_5'UTR|XYLB_ENST00000427323.1_Missense_Mutation_p.V23F	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	23					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)	p.V23F(1)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GGTAAAGGTTGTTGCTGTTGA	0.428																																																1	Substitution - Missense(1)	kidney(1)											206	184	191					3																	38390050		2203	4300	6503	SO:0001583	missense	9942			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.67G>T	3.37:g.38390050G>T	ENSP00000207870:p.Val23Phe		B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523576	0.44866	.	.	ENSG00000093217	ENST00000427323;ENST00000207870	T;T	0.51325	2.12;0.71	5.49	4.6	0.57074	Carbohydrate kinase, FGGY, N-terminal (1);	0.172614	0.51477	D	0.000089	T	0.64594	0.2612	M	0.78916	2.43	0.80722	D	1	P	0.48764	0.915	P	0.61201	0.885	T	0.67090	-0.5758	10	0.72032	D	0.01	.	10.8405	0.46712	0.0918:0.0:0.9082:0.0	.	23	O75191	XYLB_HUMAN	F	23	ENSP00000412282:V23F;ENSP00000207870:V23F	ENSP00000207870:V23F	V	+	1	0	XYLB	38365054	0.995000	0.38212	0.998000	0.56505	0.182000	0.23217	2.756000	0.47549	2.757000	0.94681	0.462000	0.41574	GTT		0.428	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		T	38390050	G	T	38390050	3	4	223	1	0	0	0	0	1	0	0	0	17467	1377	48	4	73	4	XYLB	3	38390050	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10		38390050	159632380	10	13513											
PROS1	5627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	93624946	93624946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr3:93624946C>A	ENST00000394236.3	-	5	704	c.388G>T	c.(388-390)Gga>Tga	p.G130*	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	130	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.G130*(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CTCATATATCCATCTTCATTG	0.373																																																1	Substitution - Nonsense(1)	kidney(1)											113	118	116					3																	93624946		2203	4300	6503	SO:0001587	stop_gained	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.388G>T	3.37:g.93624946C>A	ENSP00000377783:p.Gly130*		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Nonsense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	37	6.414701	0.97546	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	.	.	.	4.44	4.44	0.53790	.	0.057732	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2572	0.87060	0.0:1.0:0.0:0.0	.	.	.	.	X	130;162	.	ENSP00000330021:G162X	G	-	1	0	PROS1	95107636	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	5.659000	0.68010	2.314000	0.78098	0.484000	0.47621	GGA		0.373	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		A	93624946	C	A	93624946	4	1	223	1	0	0	0	0	0	1	0	0	12563	603	21	4	1686	4	PROS1	3	93624946	Nonsense_Mutation	SNP	C	TCGA-B0-5706-01A-11D-1534-10	55234896	93624946	104397484	11	13514											
EPHA5	2044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	66467834	66467834	+	Silent	SNP	C	C	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr4:66467834C>G	ENST00000273854.3	-	3	1035	c.435G>C	c.(433-435)ggG>ggC	p.G145G	EPHA5_ENST00000354839.4_Silent_p.G145G|EPHA5_ENST00000432638.2_Silent_p.G145G|EPHA5_ENST00000511294.1_Silent_p.G145G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	145	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.G145G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCTTACAGGTCCCCAGTCCTC	0.423										TSP Lung(17;0.13)																																						1	Substitution - coding silent(1)	kidney(1)											73	75	74					4																	66467834		2203	4300	6503	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.435G>C	4.37:g.66467834C>G			Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																				0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		G	66467834	C	G	66467834	2	3	223	1	0	0	0	0	0	0	0	1	5172	842	30	4		4	EPHA5	4	66467834	Silent	SNP	C	TCGA-B0-5706-01A-11D-1534-10		66467834	124686442	12	13515											
UGT2B7	7364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	69972925	69972925	+	Silent	SNP	T	T	C	rs147582860	byFrequency	TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr4:69972925T>C	ENST00000508661.1	+	4	1062	c.1035T>C	c.(1033-1035)gaT>gaC	p.D345D	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000305231.7_Silent_p.D345D			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	345					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.D345D(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATAAACCAGATACCTTAGGTC	0.358																																																1	Substitution - coding silent(1)	kidney(1)											147	145	145					4																	69972925		2203	4300	6503	SO:0001819	synonymous_variant	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.1035T>C	4.37:g.69972925T>C			B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37																																																																																					0.358	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		C	69972925	T	C	69972925	2	2	223	1	0	0	0	0	0	0	0	1	16967	1403	49	3		3	UGT2B7	4	69972925	Silent	SNP	T	TCGA-B0-5706-01A-11D-1534-10	3505091	69972925	121181351	13	13516											
C4orf29	80167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	128905554	128905554	+	Silent	SNP	C	C	T	rs201269910		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr4:128905554C>T	ENST00000444616.1	+	3	400	c.153C>T	c.(151-153)agC>agT	p.S51S	C4orf29_ENST00000388795.5_5'UTR|C4orf29_ENST00000398965.1_Silent_p.S51S			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	51						extracellular region (GO:0005576)		p.S51S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGGTTTCAAGCGATTATCCAG	0.318																																																2	Substitution - coding silent(2)	kidney(2)											64	60	61					4																	128905554		1769	3956	5725	SO:0001819	synonymous_variant	80167			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.153C>T	4.37:g.128905554C>T			A1A4W8|A1A4W9|Q9H7A7	Silent	SNP	ENST00000444616.1	37																																																																																					0.318	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		T	128905554	C	T	128905554	2	4	223	1	0	0	0	0	0	0	0	1	2261	767	27	1		1	C4orf29	4	128905554	Silent	SNP	C	TCGA-B0-5706-01A-11D-1534-10	58932629	128905554	62248722	14	13517											
DCHS2	54798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	155219151	155219151	+	Silent	SNP	A	A	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr4:155219151A>T	ENST00000357232.4	-	18	4949	c.4950T>A	c.(4948-4950)ccT>ccA	p.P1650P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1650	Cadherin 14. {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)	p.P1650P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCAGCCAGATAGGGAAGTATT	0.408																																																1	Substitution - coding silent(1)	kidney(1)											70	71	71					4																	155219151		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4950T>A	4.37:g.155219151A>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155219151	A	T	155219151	2	4	223	1	0	0	0	0	0	0	0	1	4290	407	15	5		5	DCHS2	4	155219151	Silent	SNP	A	TCGA-B0-5706-01A-11D-1534-10	26313597	155219151	35935125	15	13518											
RAI14	26064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	34823798	34823798	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr5:34823798T>G	ENST00000265109.3	+	15	2138	c.1851T>G	c.(1849-1851)agT>agG	p.S617R	RAI14_ENST00000506376.1_Missense_Mutation_p.S609R|RAI14_ENST00000428746.2_Missense_Mutation_p.S617R|RAI14_ENST00000503673.1_Missense_Mutation_p.S617R|RAI14_ENST00000512629.1_Missense_Mutation_p.S588R|RAI14_ENST00000515799.1_Missense_Mutation_p.S620R|RAI14_ENST00000397449.1_Missense_Mutation_p.S610R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	617						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S617R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CACTAAAAAGTCAGATGACAC	0.383																																																1	Substitution - Missense(1)	kidney(1)											57	61	59					5																	34823798		2203	4300	6503	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1851T>G	5.37:g.34823798T>G	ENSP00000265109:p.Ser617Arg		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796196	0.31777	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.37752	1.22;1.18;1.22;1.22;1.21;1.26;1.25	5.68	3.31	0.37934	.	.	.	.	.	T	0.27697	0.0681	L	0.29908	0.895	0.36752	D	0.882807	P;B;P;B	0.42620	0.573;0.437;0.785;0.437	B;B;B;B	0.41860	0.153;0.073;0.368;0.073	T	0.17471	-1.0368	9	0.56958	D	0.05	-1.4736	8.8895	0.35425	0.0:0.2111:0.0:0.7889	.	609;588;620;617	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	R	617;588;617;617;620;609;610	ENSP00000265109:S617R;ENSP00000422377:S588R;ENSP00000388725:S617R;ENSP00000422942:S617R;ENSP00000427123:S620R;ENSP00000423854:S609R;ENSP00000380591:S610R	ENSP00000265109:S617R	S	+	3	2	RAI14	34859555	1.000000	0.71417	0.757000	0.31301	0.934000	0.57294	1.989000	0.40707	0.446000	0.26666	0.454000	0.30748	AGT		0.383	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		G	34823798	T	G	34823798	3	3	223	1	0	0	0	0	1	0	0	0	13014	1664	58	5	1970	5	RAI14	5	34823798	Missense_Mutation	SNP	T	TCGA-B0-5706-01A-11D-1534-10		34823798	146091462	16	13519											
MAST4	375449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66459285	66459285	+	Silent	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr5:66459285C>T	ENST00000403625.2	+	29	4573	c.4278C>T	c.(4276-4278)caC>caT	p.H1426H	MAST4_ENST00000405643.1_Silent_p.H1247H|MAST4_ENST00000261569.7_Silent_p.H1232H|MAST4_ENST00000403666.1_Silent_p.H1237H|MAST4_ENST00000404260.3_Silent_p.H1429H	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1429						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.H1429H(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCGTCAGACACATCGTGAGGC	0.622																																																1	Substitution - coding silent(1)	kidney(1)											24	30	28					5																	66459285		2054	4205	6259	SO:0001819	synonymous_variant	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4278C>T	5.37:g.66459285C>T			A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	8.508	0.865783	0.17250	.	.	ENSG00000069020	ENST00000443808	T	0.33654	1.4	5.92	1.51	0.23008	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	.	.	.	0.43574	D	0.995908	.	.	.	.	.	.	T	0.31971	-0.9924	7	0.87932	D	0	-21.0601	6.7847	0.23668	0.0:0.5632:0.1345:0.3024	.	.	.	.	Y	483	ENSP00000400551:H483Y	ENSP00000400551:H483Y	H	+	1	0	MAST4	66495041	0.613000	0.27009	0.851000	0.33527	0.997000	0.91878	-0.009000	0.12765	0.375000	0.24679	0.655000	0.94253	CAT		0.622	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66459285	C	T	66459285	2	4	223	1	0	0	0	0	0	0	0	1	9329	477	17	2		2	MAST4	5	66459285	Silent	SNP	C	TCGA-B0-5706-01A-11D-1534-10	31635487	66459285	114455975	17	13520											
MEGF10	84466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	126776499	126776499	+	Missense_Mutation	SNP	G	G	A	rs373093349		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr5:126776499G>A	ENST00000274473.6	+	19	2569	c.2302G>A	c.(2302-2304)Gac>Aac	p.D768N	MEGF10_ENST00000503335.2_Missense_Mutation_p.D768N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	768	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.D768N(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCTGACTGCGACCACATTTC	0.493																																																1	Substitution - Missense(1)	kidney(1)						G	ASN/ASP	0,4406		0,0,2203	158	141	146		2302	5.2	1	5		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	MEGF10	NM_032446.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	768/1141	126776499	1,13005	2203	4300	6503	SO:0001583	missense	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2302G>A	5.37:g.126776499G>A	ENSP00000274473:p.Asp768Asn		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602300	0.87055	0.0	1.16E-4	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.15603	2.41;2.41	6.03	5.15	0.70609	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.065696	0.64402	D	0.000013	T	0.24967	0.0606	L	0.49126	1.545	0.53005	D	0.999967	P	0.41498	0.752	P	0.47102	0.537	T	0.01574	-1.1321	10	0.22109	T	0.4	-31.9528	16.4878	0.84189	0.0:0.0:0.8679:0.1321	.	768	Q96KG7	MEG10_HUMAN	N	768	ENSP00000423354:D768N;ENSP00000274473:D768N	ENSP00000274473:D768N	D	+	1	0	MEGF10	126804398	1.000000	0.71417	0.985000	0.45067	0.921000	0.55340	7.984000	0.88150	1.520000	0.48965	0.557000	0.71058	GAC		0.493	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		A	126776499	G	A	126776499	3	1	223	1	0	0	0	0	1	0	0	0	9462	1058	37	1	2368	1	MEGF10	5	126776499	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	60317214	126776499	54138761	18	13521											
SLC36A1	206358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150843145	150843145	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr5:150843145G>T	ENST00000243389.3	+	3	398	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000520701.1_Missense_Mutation_p.G59C|SLC36A1_ENST00000429484.2_Missense_Mutation_p.G59C|SLC36A1_ENST00000521925.1_Missense_Mutation_p.G59C	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	59					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.G59C(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CCTGTTAAAAGGCAACATTGG	0.463																																					Melanoma(151;1534 1860 12947 32979 37872)											1	Substitution - Missense(1)	kidney(1)											128	113	118					5																	150843145		2203	4300	6503	SO:0001583	missense	206358			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.175G>T	5.37:g.150843145G>T	ENSP00000243389:p.Gly59Cys		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406551	0.83230	.	.	ENSG00000123643	ENST00000520111;ENST00000520701;ENST00000429484;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517945;ENST00000519829	T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31	6.08	4.32	0.51571	.	0.094778	0.64402	D	0.000001	T	0.08714	0.0216	M	0.65320	2	0.80722	D	1	B;B	0.33964	0.434;0.055	P;B	0.47134	0.539;0.167	T	0.05699	-1.0869	10	0.45353	T	0.12	.	12.982	0.58570	0.13:0.0:0.87:0.0	.	59;59	E7EW39;Q7Z2H8	.;S36A1_HUMAN	C	59	ENSP00000429796:G59C;ENSP00000428140:G59C;ENSP00000395640:G59C;ENSP00000243389:G59C;ENSP00000430305:G59C	ENSP00000243389:G59C	G	+	1	0	SLC36A1	150823338	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.552000	0.73914	0.924000	0.37069	0.655000	0.94253	GGC		0.463	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		T	150843145	G	T	150843145	3	4	223	1	0	0	0	0	1	0	0	0	14599	1000	35	4	181	4	SLC36A1	5	150843145	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	24066646	150843145	30072115	19	13522											
SYCP2L	221711	broad.mit.edu;ucsc.edu	37	6	10911079	10911079	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr6:10911079G>T	ENST00000283141.6	+	12	1191	c.895G>T	c.(895-897)Gct>Tct	p.A299S	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.A140S	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	299						nucleus (GO:0005634)		p.A299S(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCCGTGTATTGCTGCTTTTGC	0.418																																																1	Substitution - Missense(1)	kidney(1)											284	258	267					6																	10911079		1930	4132	6062	SO:0001583	missense	221711			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.895G>T	6.37:g.10911079G>T	ENSP00000283141:p.Ala299Ser		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	6.401	0.442178	0.12164	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.39592	1.07;2.39	5.66	2.77	0.32553	.	0.221754	0.38272	N	0.001747	T	0.18635	0.0447	L	0.31420	0.93	0.49213	D	0.999766	P;P	0.45715	0.525;0.865	B;P	0.46585	0.116;0.521	T	0.02661	-1.1127	10	0.44086	T	0.13	-0.3115	5.8649	0.18768	0.1402:0.0:0.4763:0.3835	.	140;299	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	S	140;299	ENSP00000440676:A140S;ENSP00000283141:A299S	ENSP00000283141:A299S	A	+	1	0	SYCP2L	11019065	0.102000	0.21896	0.656000	0.29637	0.721000	0.41392	0.196000	0.17176	0.721000	0.32231	0.591000	0.81541	GCT		0.418	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		T	10911079	G	T	10911079	3	4	223	1	0	0	0	0	1	0	0	0	15438	1319	46	4	941	4	SYCP2L	6	10911079	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10		10911079	160203988	20	13523											
BTN3A1	11119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	26413447	26413447	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr6:26413447G>A	ENST00000289361.6	+	10	1437	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	BTN3A1_ENST00000414912.2_Missense_Mutation_p.E305K|BTN3A1_ENST00000476549.2_3'UTR	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	357	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E357K(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTTGTTTCTGAGGACCAGAG	0.498																																																1	Substitution - Missense(1)	kidney(1)											124	132	129					6																	26413447		2203	4300	6503	SO:0001583	missense	11119			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1069G>A	6.37:g.26413447G>A	ENSP00000289361:p.Glu357Lys		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	17.48	3.399252	0.62177	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.14391	2.51;2.51	2.96	2.96	0.34315	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.18383	0.0441	L	0.49256	1.55	0.21897	N	0.99949	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.995	T	0.02471	-1.1154	9	0.72032	D	0.01	.	12.1142	0.53856	0.0:0.0:1.0:0.0	.	305;357	E9PGB4;O00481	.;BT3A1_HUMAN	K	357;305	ENSP00000289361:E357K;ENSP00000406667:E305K	ENSP00000289361:E357K	E	+	1	0	BTN3A1	26521426	0.818000	0.29161	0.019000	0.16419	0.141000	0.21300	2.961000	0.49168	1.573000	0.49748	0.609000	0.83330	GAG		0.498	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			A	26413447	G	A	26413447	3	1	223	1	0	0	0	0	1	0	0	0	1564	1291	45	2	1271	2	BTN3A1	6	26413447	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	15502368	26413447	144701620	21	13524											
CASP8AP2	9994	hgsc.bcm.edu;ucsc.edu	37	6	90573431	90573432	+	RNA	DEL	TG	TG	-	rs565334623		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr6:90573431_90573432delTG	ENST00000551025.1	+	0	3440_3441									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GACAATACTATGCATTGTGAAG	0.411																																					Colon(187;1656 2025 17045 31481 39901)											0																																												9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573431_90573432delTG				Frame_Shift_Del	DEL	ENST00000551025.1	37																																																																																					0.411	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		-	90573432	TG	-	90573431	6	5	223	0	1	1	0	1	0	0	0	0	2680	1464	51	0		0	CASP8AP2	6	90573431	RNA	DEL	TG	TCGA-B0-5706-01A-11D-1534-10	64159984	90573431	80541636	22	13525											
TMEM200A	114801	broad.mit.edu;hgsc.bcm.edu	37	6	130761752	130761752	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr6:130761752G>C	ENST00000296978.3	+	3	1056	c.185G>C	c.(184-186)gGt>gCt	p.G62A	TMEM200A_ENST00000392429.1_Missense_Mutation_p.G62A|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G62A	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	62						integral component of membrane (GO:0016021)		p.G62A(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCCCATCTGGTTTTTTTCTT	0.473																																																2	Substitution - Missense(2)	kidney(2)											113	115	114					6																	130761752		2203	4300	6503	SO:0001583	missense	114801			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.185G>C	6.37:g.130761752G>C	ENSP00000296978:p.Gly62Ala		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885094	0.72410	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78499	-0.2180	9	0.87932	D	0	.	19.305	0.94157	0.0:0.0:1.0:0.0	.	62	Q86VY9	T200A_HUMAN	A	62	.	ENSP00000296978:G62A	G	+	2	0	TMEM200A	130803445	1.000000	0.71417	0.950000	0.38849	0.599000	0.36880	9.809000	0.99208	2.547000	0.85894	0.655000	0.94253	GGT		0.473	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		C	130761752	G	C	130761752	3	2	223	1	0	0	0	0	1	0	0	0	16128	1261	44	4	187	4	TMEM200A	6	130761752	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	40188321	130761752	40353315	23	13526											
GPR126	57211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	142741085	142741085	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr6:142741085A>T	ENST00000230173.6	+	22	3639	c.3163A>T	c.(3163-3165)Agc>Tgc	p.S1055C	GPR126_ENST00000367608.2_Missense_Mutation_p.S1027C|GPR126_ENST00000296932.8_Missense_Mutation_p.S1027C|GPR126_ENST00000367609.3_Missense_Mutation_p.S1055C	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1055					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1026C(1)|p.S1055C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TGGCAAGAGAAGCAACCGGAC	0.468																																																2	Substitution - Missense(2)	kidney(2)											299	289	292					6																	142741085		1968	4162	6130	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.3163A>T	6.37:g.142741085A>T	ENSP00000230173:p.Ser1055Cys		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319682	0.81469	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.77	4.62	0.57501	GPCR, family 2-like (1);	0.138486	0.51477	D	0.000081	T	0.54029	0.1833	M	0.76838	2.35	0.51233	D	0.999919	D;D;D;D;D	0.89917	0.991;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77557	0.95;0.971;0.971;0.983;0.99	T	0.61950	-0.6957	10	0.87932	D	0	.	11.6207	0.51115	0.9307:0.0:0.0693:0.0	.	115;1027;1055;1027;1055	B4DSK4;Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;.;GP126_HUMAN	C	1055;1027;1027;1055	ENSP00000230173:S1055C;ENSP00000356580:S1027C;ENSP00000296932:S1027C;ENSP00000356581:S1055C	ENSP00000230173:S1055C	S	+	1	0	GPR126	142782778	1.000000	0.71417	0.984000	0.44739	0.974000	0.67602	7.133000	0.77259	1.016000	0.39470	0.528000	0.53228	AGC		0.468	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			T	142741085	A	T	142741085	3	4	223	1	0	0	0	0	1	0	0	0	6642	72	3	5	3249	5	GPR126	6	142741085	Missense_Mutation	SNP	A	TCGA-B0-5706-01A-11D-1534-10	11979333	142741085	28373982	24	13527											
FAM126A	84668	hgsc.bcm.edu;ucsc.edu	37	7	23000857	23000858	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr7:23000857_23000858delCA	ENST00000432176.2	-	9	1059_1060	c.827_828delTG	c.(826-828)ttgfs	p.L277fs	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_Frame_Shift_Del_p.L277fs	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	277					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CACCTACCAGCAATGGCTCTGG	0.302																																																0																																										SO:0001589	frameshift_variant	84668			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"down regulated by Ctnnb1, a"	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.827_828delTG	7.37:g.23000857_23000858delCA	ENSP00000403396:p.Leu277fs		A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Frame_Shift_Del	DEL	ENST00000432176.2	37	CCDS5377.1																																																																																				0.302	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		-	23000858	CA	-	23000857	7	5	223	1	0	1	0	1	0	0	0	0	5431	709	25	0	749	0	FAM126A	7	23000857	Frame_Shift_Del	DEL	CA	TCGA-B0-5706-01A-11D-1534-10		23000857	136137806	25	13528											
ABCB8	11194	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150731895	150731895	+	Silent	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr7:150731895C>T	ENST00000297504.6	+	6	861	c.795C>T	c.(793-795)tcC>tcT	p.S265S	ABCB8_ENST00000477092.1_Silent_p.S248S|ABCB8_ENST00000498578.1_Silent_p.S248S|ABCB8_ENST00000358849.4_Silent_p.S248S|ABCB8_ENST00000477719.1_Silent_p.S248S|ABCB8_ENST00000542328.1_Silent_p.S160S|ABCB8_ENST00000356058.4_Silent_p.S285S			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	265	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.S248S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	TTAAGTCATCCTTCAAGCTTG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											142	118	126					7																	150731895		2203	4300	6503	SO:0001819	synonymous_variant	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.795C>T	7.37:g.150731895C>T			A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP	ENST00000297504.6	37																																																																																					0.572	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		T	150731895	C	T	150731895	2	4	223	1	0	0	0	0	0	0	0	1	47	668	24	2		2	ABCB8	7	150731895	Silent	SNP	C	TCGA-B0-5706-01A-11D-1534-10	127731038	150731895	8406768	26	13529											
CRISPLD1	83690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	75937789	75937789	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr8:75937789G>C	ENST00000262207.4	+	13	1721	c.1253G>C	c.(1252-1254)tGt>tCt	p.C418S	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.C230S|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.C232S|RP11-300E4.2_ENST00000520778.1_RNA	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	418	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.C418S(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AGAGTATACTGTCCTCGTAAC	0.299																																																1	Substitution - Missense(1)	kidney(1)											77	68	71					8																	75937789		2203	4297	6500	SO:0001583	missense	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1253G>C	8.37:g.75937789G>C	ENSP00000262207:p.Cys418Ser		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718364	0.89205	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.99167	-5.51;-5.51;-5.51	5.54	5.54	0.83059	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.99612	0.9859	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	0.987;1.0	D;D	0.87578	0.985;0.998	D	0.97862	1.0281	10	0.87932	D	0	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	232;418	B7Z929;Q9H336	.;CRLD1_HUMAN	S	418;230;232	ENSP00000262207:C418S;ENSP00000430105:C230S;ENSP00000429746:C232S	ENSP00000262207:C418S	C	+	2	0	CRISPLD1	76100344	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.975000	0.93437	2.880000	0.98712	0.650000	0.86243	TGT		0.299	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		C	75937789	G	C	75937789	3	2	223	1	0	0	0	0	1	0	0	0	3884	1377	48	4	1299	4	CRISPLD1	8	75937789	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10		75937789	70426233	27	13530											
ZFAND5	7763	broad.mit.edu;ucsc.edu	37	9	74971943	74971943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr9:74971943G>A	ENST00000237937.3	-	5	954	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	ZFAND5_ENST00000343431.2_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000376962.5_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Nonsense_Mutation_p.Q133*	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	133					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q133*(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTACTGGGCTGAGAAACTGAT	0.383																																																1	Substitution - Nonsense(1)	kidney(1)											109	100	103					9																	74971943		2203	4299	6502	SO:0001587	stop_gained	7763			AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"Zinc fingers, AN1-type domain containing"	13008	protein-coding gene	gene with protein product		604761	"zinc finger protein 216", "zinc finger, A20 domain containing 2"	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.397C>T	9.37:g.74971943G>A	ENSP00000237937:p.Gln133*		A8K484	Nonsense_Mutation	SNP	ENST00000237937.3	37	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	G	40	8.252544	0.98727	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.17	6.17	0.99709	.	0.377447	0.33092	N	0.005282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-4.3916	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	133;133;133;133;185	.	ENSP00000237937:Q133X	Q	-	1	0	ZFAND5	74161763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.747000	0.47475	2.941000	0.99782	0.655000	0.94253	CAG		0.383	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			A	74971943	G	A	74971943	4	1	223	1	0	0	0	0	0	1	0	0	17635	1299	45	2	252	2	ZFAND5	9	74971943	Nonsense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10		74971943	66241488	28	13531											
NANS	54187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100843297	100843297	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr9:100843297T>C	ENST00000210444.5	+	5	873	c.803T>C	c.(802-804)cTt>cCt	p.L268P	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	268					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)	p.L268P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCAGTGCGTCTTGTGGAGCGT	0.607																																																1	Substitution - Missense(1)	kidney(1)											87	79	82					9																	100843297		2203	4300	6503	SO:0001583	missense	54187			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.803T>C	9.37:g.100843297T>C	ENSP00000210444:p.Leu268Pro		B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618765	0.46736	.	.	ENSG00000095380	ENST00000210444;ENST00000415280;ENST00000427646	T;T;T	0.42513	0.97;0.97;0.97	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.185164	0.47455	D	0.000231	T	0.51924	0.1703	L	0.52011	1.625	0.80722	D	1	P;P	0.52316	0.952;0.507	P;B	0.57846	0.828;0.251	T	0.44314	-0.9336	10	0.29301	T	0.29	-19.0888	13.4897	0.61388	0.0:0.0:0.0:1.0	.	104;268	E9PGK0;Q9NR45	.;SIAS_HUMAN	P	268;127;76	ENSP00000210444:L268P;ENSP00000404107:L127P;ENSP00000404642:L76P	ENSP00000210444:L268P	L	+	2	0	NANS	99883118	0.896000	0.30565	0.930000	0.37139	0.227000	0.25037	2.892000	0.48625	2.148000	0.66965	0.454000	0.30748	CTT		0.607	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		C	100843297	T	C	100843297	3	2	223	1	0	0	0	0	1	0	0	0	10157	1609	56	3	821	3	NANS	9	100843297	Missense_Mutation	SNP	T	TCGA-B0-5706-01A-11D-1534-10	25871354	100843297	40370134	29	13532											
ZBTB6	10773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125674096	125674096	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr9:125674096G>T	ENST00000373659.3	-	2	344	c.256C>A	c.(256-258)Ctg>Atg	p.L86M		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	86	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L86M(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TAGCAAGACAGTAACAATTTT	0.393																																																1	Substitution - Missense(1)	kidney(1)											101	105	104					9																	125674096		2203	4300	6503	SO:0001583	missense	10773			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16764	protein-coding gene	gene with protein product		605976	"zinc finger protein 482"	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.256C>A	9.37:g.125674096G>T	ENSP00000362763:p.Leu86Met		A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754754	0.49362	.	.	ENSG00000186130	ENST00000373659	T	0.70749	-0.51	6.17	5.27	0.74061	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000002	D	0.83041	0.5168	M	0.80183	2.485	0.48762	D	0.999706	D	0.65815	0.995	D	0.83275	0.996	D	0.84562	0.0650	10	0.66056	D	0.02	.	10.0281	0.42083	0.1526:0.0:0.8474:0.0	.	86	Q15916	ZBTB6_HUMAN	M	86	ENSP00000362763:L86M	ENSP00000362763:L86M	L	-	1	2	ZBTB6	124713917	1.000000	0.71417	0.980000	0.43619	0.638000	0.38207	5.428000	0.66489	1.598000	0.50083	0.655000	0.94253	CTG		0.393	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		T	125674096	G	T	125674096	3	4	223	1	0	0	0	0	1	0	0	0	17557	1020	36	4	1022	4	ZBTB6	9	125674096	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	24830799	125674096	15539335	30	13533											
PMPCA	23203	broad.mit.edu	37	9	139305134	139305134	+	Missense_Mutation	SNP	T	T	C	rs561383356		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr9:139305134T>C	ENST00000371717.3	+	1	23	c.14T>C	c.(13-15)gTg>gCg	p.V5A	SDCCAG3_ENST00000298537.7_5'Flank|SDCCAG3_ENST00000357365.3_5'Flank|PMPCA_ENST00000371720.1_Missense_Mutation_p.V5A|SDCCAG3_ENST00000371725.3_5'Flank|PMPCA_ENST00000399219.3_5'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	5					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.V5A(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCGGCTGTGGTGCTGGCGGCG	0.721													T|||	1	0.000199681	0.0	0.0	5008	,	,		9274	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											30	32	32					9																	139305134		2192	4293	6485	SO:0001583	missense	23203			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.14T>C	9.37:g.139305134T>C	ENSP00000360782:p.Val5Ala		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.063804	0.36373	.	.	ENSG00000165688	ENST00000371720;ENST00000371717	T	0.12361	2.69	3.88	3.88	0.44766	.	1.003840	0.08031	N	0.993508	T	0.09598	0.0236	N	0.19112	0.55	0.46654	D	0.999149	P;B	0.36027	0.533;0.39	B;B	0.33846	0.171;0.074	T	0.19289	-1.0310	10	0.26408	T	0.33	.	9.3787	0.38299	0.0:0.0:0.0:1.0	.	5;5	B4DRK5;Q10713	.;MPPA_HUMAN	A	5	ENSP00000360782:V5A	ENSP00000360782:V5A	V	+	2	0	PMPCA	138424955	0.073000	0.21202	0.006000	0.13384	0.341000	0.28922	0.938000	0.28965	1.511000	0.48818	0.533000	0.62120	GTG		0.721	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		C	139305134	T	C	139305134	3	2	223	1	0	0	0	0	1	0	0	0	12142	1696	59	3	16	3	PMPCA	9	139305134	Missense_Mutation	SNP	T	TCGA-B0-5706-01A-11D-1534-10	13631038	139305134	1908297	31	13534											
PARD3	56288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	34626340	34626340	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr10:34626340T>G	ENST00000374789.3	-	17	2757	c.2432A>C	c.(2431-2433)gAt>gCt	p.D811A	PARD3_ENST00000545693.1_Missense_Mutation_p.D795A|PARD3_ENST00000340077.5_Missense_Mutation_p.D808A|PARD3_ENST00000466092.1_5'Flank|PARD3_ENST00000374776.1_Missense_Mutation_p.D795A|PARD3_ENST00000374794.3_Missense_Mutation_p.D751A|PARD3_ENST00000374790.3_Missense_Mutation_p.D751A|PARD3_ENST00000374788.3_Missense_Mutation_p.D808A|PARD3_ENST00000350537.4_Missense_Mutation_p.D795A|PARD3_ENST00000374773.1_Missense_Mutation_p.D808A|PARD3_ENST00000544292.1_Missense_Mutation_p.D525A|PARD3_ENST00000545260.1_Missense_Mutation_p.D751A|PARD3_ENST00000346874.4_Missense_Mutation_p.D811A	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	811	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D811A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGGATCAACATCTGGACTCAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											72	65	67					10																	34626340		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2432A>C	10.37:g.34626340T>G	ENSP00000363921:p.Asp811Ala		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628631	0.67015	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.20463	2.41;2.52;2.48;2.44;2.54;2.52;2.51;2.41;2.12;2.07;2.2;2.12	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D;D;B;P;D;P;D;P;P;P	0.89917	0.991;0.999;0.999;1.0;0.999;0.97;1.0;0.402;0.945;0.998;0.901;0.982;0.73;0.753;0.936	D;D;D;D;D;P;D;B;P;D;P;P;P;B;P	0.91635	0.954;0.995;0.999;0.999;0.999;0.729;0.999;0.235;0.695;0.975;0.546;0.891;0.492;0.406;0.693	T	0.12578	-1.0542	10	0.08179	T	0.78	.	15.9555	0.79884	0.0:0.0:0.0:1.0	.	751;751;795;795;795;811;808;811;751;795;808;808;795;808;525	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	A	795;751;811;808;811;751;795;751;795;808;808;525	ENSP00000443147:D795A;ENSP00000440857:D751A;ENSP00000363921:D811A;ENSP00000363920:D808A;ENSP00000340591:D811A;ENSP00000363926:D751A;ENSP00000311986:D795A;ENSP00000363922:D751A;ENSP00000363908:D795A;ENSP00000341844:D808A;ENSP00000363905:D808A;ENSP00000444429:D525A	ENSP00000341844:D808A	D	-	2	0	PARD3	34666346	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.655000	0.83696	2.227000	0.72691	0.459000	0.35465	GAT		0.368	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		G	34626340	T	G	34626340	3	3	223	1	0	0	0	0	1	0	0	0	11445	1435	50	5	1709	5	PARD3	10	34626340	Missense_Mutation	SNP	T	TCGA-B0-5706-01A-11D-1534-10		34626340	100908407	32	13535											
GRID1	2894	broad.mit.edu;hgsc.bcm.edu	37	10	87966375	87966375	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr10:87966375G>A	ENST00000327946.7	-	3	351	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	89					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A89V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CGTGACCAAGGCCAAAATCCC	0.592										Multiple Myeloma(13;0.14)																																						2	Substitution - Missense(2)	lung(1)|kidney(1)											82	55	64					10																	87966375		2203	4300	6503	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.266C>T	10.37:g.87966375G>A	ENSP00000330148:p.Ala89Val		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545250	0.96488	.	.	ENSG00000182771	ENST00000327946	D	0.86956	-2.19	6.02	6.02	0.97574	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92476	0.7611	M	0.68952	2.095	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	D	0.92455	0.5973	10	0.87932	D	0	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	89	Q9ULK0	GRID1_HUMAN	V	89	ENSP00000330148:A89V	ENSP00000330148:A89V	A	-	2	0	GRID1	87956355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GCC		0.592	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		A	87966375	G	A	87966375	3	1	223	1	0	0	0	0	1	0	0	0	6773	1203	42	2	2819	2	GRID1	10	87966375	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	53340035	87966375	47568372	33	13536											
TUBGCP2	10844	broad.mit.edu	37	10	135106637	135106637	+	Silent	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr10:135106637C>T	ENST00000252936.3	-	6	969	c.930G>A	c.(928-930)ctG>ctA	p.L310L	RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000543663.1_Silent_p.L338L|TUBGCP2_ENST00000417178.2_Silent_p.L180L|TUBGCP2_ENST00000368563.2_Silent_p.L310L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	310					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.L310L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCAGCTGCTCCAGCTGTGACA	0.617																																																1	Substitution - coding silent(1)	kidney(1)											65	59	61					10																	135106637		2203	4300	6503	SO:0001819	synonymous_variant	10844			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.930G>A	10.37:g.135106637C>T			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	CCDS7676.1																																																																																				0.617	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			T	135106637	C	T	135106637	2	4	223	1	0	0	0	0	0	0	0	1	16771	581	21	2		2	TUBGCP2	10	135106637	Silent	SNP	C	TCGA-B0-5706-01A-11D-1534-10	47140262	135106637	428110	34	13537											
EHF	26298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	34670585	34670585	+	Silent	SNP	G	G	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr11:34670585G>C	ENST00000533754.1	+	4	580	c.363G>C	c.(361-363)ctG>ctC	p.L121L	EHF_ENST00000257831.3_Silent_p.L121L|EHF_ENST00000531794.1_Silent_p.L143L|EHF_ENST00000450654.2_Silent_p.L121L|EHF_ENST00000530286.1_Silent_p.L121L					ets homologous factor									p.L121L(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GTAGTGACCTGTTCCAGTCCA	0.512																																																1	Substitution - coding silent(1)	kidney(1)											294	272	279					11																	34670585		2202	4298	6500	SO:0001819	synonymous_variant	26298			AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"epithelium-specific ets factor 3", "ESE3 transcription factor"	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.363G>C	11.37:g.34670585G>C				Silent	SNP	ENST00000533754.1	37	CCDS7894.1																																																																																				0.512	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		C	34670585	G	C	34670585	2	2	223	1	0	0	0	0	0	0	0	1	4983	1364	48	4		4	EHF	11	34670585	Silent	SNP	G	TCGA-B0-5706-01A-11D-1534-10		34670585	100335931	35	13538											
PCNXL3	399909	broad.mit.edu;ucsc.edu	37	11	65391403	65391403	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr11:65391403G>A	ENST00000355703.3	+	13	3054	c.2515G>A	c.(2515-2517)Gtg>Atg	p.V839M		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	839						integral component of membrane (GO:0016021)		p.V720M(2)|p.V839M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTTCCAGAGCGTGCAGCCTGA	0.652																																																3	Substitution - Missense(3)	kidney(3)											56	64	61					11																	65391403		2059	4190	6249	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2515G>A	11.37:g.65391403G>A	ENSP00000347931:p.Val839Met		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567717	0.65651	.	.	ENSG00000197136	ENST00000355703	T	0.75938	-0.98	4.82	4.82	0.62117	.	.	.	.	.	D	0.85847	0.5792	M	0.82323	2.585	0.44890	D	0.997905	D	0.71674	0.998	D	0.70935	0.971	D	0.87873	0.2672	9	0.72032	D	0.01	.	13.3753	0.60734	0.0:0.0:1.0:0.0	.	839	Q9H6A9	PCX3_HUMAN	M	839	ENSP00000347931:V839M	ENSP00000347931:V839M	V	+	1	0	PCNXL3	65147979	1.000000	0.71417	0.980000	0.43619	0.151000	0.21798	6.741000	0.74837	2.236000	0.73375	0.462000	0.41574	GTG		0.652	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		A	65391403	G	A	65391403	3	1	223	1	0	0	0	0	1	0	0	0	11595	1145	40	1	2565	1	PCNXL3	11	65391403	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	30720818	65391403	69615113	36	13539											
OPCML	4978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	132527098	132527098	+	Missense_Mutation	SNP	G	G	A	rs137852691		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr11:132527098G>A	ENST00000331898.7	-	2	862	c.284C>T	c.(283-285)cCa>cTa	p.P95L	OPCML_ENST00000374778.4_Missense_Mutation_p.P54L|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.P95L|OPCML_ENST00000524381.1_Missense_Mutation_p.P88L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	95	Ig-like C2-type 1.		P -> R (in ovarian cancer; somatic mutation). {ECO:0000269|PubMed:12819783}.		cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.P95L(1)|p.P88L(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTACTGGGTTGGTGTATTGAC	0.532																																																2	Substitution - Missense(2)	kidney(2)											243	181	202					11																	132527098		2201	4297	6498	SO:0001583	missense	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.284C>T	11.37:g.132527098G>A	ENSP00000330862:p.Pro95Leu		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538339	0.45176	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000541867	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.83	4.85	0.62838	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.413025	0.26574	N	0.023604	T	0.24392	0.0591	L	0.50333	1.59	0.36688	D	0.879427	B;B;B;B	0.13145	0.001;0.007;0.001;0.001	B;B;B;B	0.15870	0.014;0.009;0.014;0.014	T	0.09818	-1.0657	10	0.46703	T	0.11	-9.5672	11.5071	0.50472	0.0:0.0:0.6129:0.3871	.	95;88;95;95	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	L	95;88;54;95	ENSP00000330862:P95L;ENSP00000434750:P88L;ENSP00000363910:P54L;ENSP00000445496:P95L	ENSP00000330862:P95L	P	-	2	0	OPCML	132032308	0.995000	0.38212	0.963000	0.40424	0.995000	0.86356	3.790000	0.55461	2.762000	0.94881	0.655000	0.94253	CCA		0.532	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		A	132527098	G	A	132527098	3	1	223	1	0	0	0	0	1	0	0	0	10876	1348	47	2	777	2	OPCML	11	132527098	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	67135695	132527098	2479418	37	13540											
LRP6	4040	hgsc.bcm.edu;ucsc.edu	37	12	12315207	12315207	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:12315207delC	ENST00000261349.4	-	10	2275	c.2199delG	c.(2197-2199)aagfs	p.K733fs	LRP6_ENST00000543091.1_Frame_Shift_Del_p.K733fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	733	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCCCATCCAACTTTGACACCT	0.498																																																0													228	188	202					12																	12315207		2203	4300	6503	SO:0001589	frameshift_variant	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2199delG	12.37:g.12315207delC	ENSP00000261349:p.Lys733fs		Q17RZ2	Frame_Shift_Del	DEL	ENST00000261349.4	37	CCDS8647.1																																																																																				0.498	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			-	12315207	C	-	12315207	7	5	223	1	0	1	0	1	0	0	0	0	8964	564	20	0	2698	0	LRP6	12	12315207	Frame_Shift_Del	DEL	C	TCGA-B0-5706-01A-11D-1534-10		12315207	121536688	38	13541											
GXYLT1	283464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	42503369	42503369	+	Splice_Site	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:42503369G>A	ENST00000398675.3	-	4	843	c.611C>T	c.(610-612)cCg>cTg	p.P204L	GXYLT1_ENST00000280876.6_Splice_Site_p.P173L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	204					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.P204L(1)|p.P173L(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AAAACTTACCGGCAAGAACAA	0.328																																																2	Substitution - Missense(2)	kidney(2)											23	22	22					12																	42503369		1787	4045	5832	SO:0001630	splice_region_variant	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.612+1C>T	12.37:g.42503369G>A			B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486754	0.84854	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.26223	1.75;1.75	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.68432	-0.5410	10	0.59425	D	0.04	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	173;204	Q4G148-2;Q4G148	.;GXLT1_HUMAN	L	204;173	ENSP00000381666:P204L;ENSP00000280876:P173L	ENSP00000280876:P173L	P	-	2	0	GXYLT1	40789636	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	9.574000	0.98184	2.882000	0.98803	0.655000	0.94253	CCG		0.328	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597	Missense_Mutation	A	42503369	G	A	42503369	5	1	223	1	0	0	0	0	0	0	1	0	6905	1130	39	1	731	1	GXYLT1	12	42503369	Splice_Site	SNP	G	TCGA-B0-5706-01A-11D-1534-10	30188162	42503369	91348526	39	13542											
LETMD1	25875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51449626	51449626	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:51449626T>G	ENST00000262055.4	+	5	521	c.482T>G	c.(481-483)tTt>tGt	p.F161C	LETMD1_ENST00000552739.1_Missense_Mutation_p.F44C|LETMD1_ENST00000550929.1_Missense_Mutation_p.F105C|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000418425.2_Missense_Mutation_p.F174C|LETMD1_ENST00000380123.2_Missense_Mutation_p.F95V|LETMD1_ENST00000548516.1_Intron	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	161	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.F161C(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						AGGTACCTGTTTCCCAGGCAA	0.423																																																1	Substitution - Missense(1)	kidney(1)											92	88	89					12																	51449626		2203	4300	6503	SO:0001583	missense	25875			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.482T>G	12.37:g.51449626T>G	ENSP00000262055:p.Phe161Cys		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.93|17.93	3.510098|3.510098	0.64522|0.64522	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000418425;ENST00000448283;ENST00000552739|ENST00000380123	T;T;T;T;T;T|T	0.57595|0.44482	0.39;0.39;0.39;0.39;0.39;0.39|0.92	5.08|5.08	3.86|3.86	0.44501|0.44501	LETM1-like (1);|.	0.052665|0.052665	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.47414|0.47414	0.1444|0.1444	M|M	0.61703|0.61703	1.905|1.905	0.27486|0.27486	N|N	0.952436|0.952436	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.72982|.	0.977;0.979;0.976;0.979|.	T|T	0.38351|0.38351	-0.9665|-0.9665	10|8	0.87932|0.34782	D|T	0|0.22	-16.4859|-16.4859	10.9973|10.9973	0.47585|0.47585	0.1401:0.0:0.0:0.8599|0.1401:0.0:0.0:0.8599	.|.	111;174;44;161|.	F8VVQ3;B3KXK7;F8VP71;Q6P1Q0|.	.;.;.;LTMD1_HUMAN|.	C|V	128;67;105;161;111;174;111;44|95	ENSP00000446862:F128C;ENSP00000450163:F105C;ENSP00000262055:F161C;ENSP00000449896:F111C;ENSP00000389903:F174C;ENSP00000450333:F44C|ENSP00000369466:F95V	ENSP00000262055:F161C|ENSP00000369466:F95V	F|F	+|+	2|1	0|0	LETMD1|LETMD1	49735893|49735893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.243000|4.243000	0.58721|0.58721	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	TTT|TTC		0.423	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		G	51449626	T	G	51449626	3	3	223	1	0	0	0	0	1	0	0	0	8738	1841	64	5	500	5	LETMD1	12	51449626	Missense_Mutation	SNP	T	TCGA-B0-5706-01A-11D-1534-10	8946257	51449626	82402269	40	13543											
NAV3	89795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	78516003	78516003	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:78516003G>A	ENST00000397909.2	+	16	4206	c.4033G>A	c.(4033-4035)Gtg>Atg	p.V1345M	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.V1345M|NAV3_ENST00000228327.6_Missense_Mutation_p.V1345M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1345	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.V1345M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGTGGTCTCGTGTGGGCTGC	0.507										HNSCC(70;0.22)																																						1	Substitution - Missense(1)	kidney(1)											92	90	90					12																	78516003		2029	4189	6218	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4033G>A	12.37:g.78516003G>A	ENSP00000381007:p.Val1345Met		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	19.17	3.775461	0.70107	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.26518	1.73;1.73;1.73	5.96	5.96	0.96718	.	0.000000	0.36167	U	0.002754	T	0.40498	0.1119	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;P;P	0.58660	0.815;0.781;0.843	T	0.06023	-1.0850	10	0.59425	D	0.04	-15.1705	20.4082	0.99013	0.0:0.0:1.0:0.0	.	1345;1345;1345	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	M	1345	ENSP00000446132:V1345M;ENSP00000381007:V1345M;ENSP00000228327:V1345M	ENSP00000228327:V1345M	V	+	1	0	NAV3	77040134	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.773000	0.75006	2.814000	0.96858	0.655000	0.94253	GTG		0.507	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		A	78516003	G	A	78516003	3	1	223	1	0	0	0	0	1	0	0	0	10187	1145	40	1	4095	1	NAV3	12	78516003	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	27066377	78516003	55335892	41	13544											
KIAA1033	23325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	105536914	105536914	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:105536914A>G	ENST00000332180.5	+	20	1990	c.1903A>G	c.(1903-1905)Agt>Ggt	p.S635G		NM_015275.1	NP_056090.1			KIAA1033									p.S635G(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTACATGTTCAGTGCTTTGCG	0.333																																																1	Substitution - Missense(1)	kidney(1)											81	71	74					12																	105536914		1836	4091	5927	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1903A>G	12.37:g.105536914A>G	ENSP00000328062:p.Ser635Gly			Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.003828	0.35320	.	.	ENSG00000136051	ENST00000332180	T	0.44482	0.92	5.8	4.64	0.57946	.	0.036749	0.85682	D	0.000000	T	0.26666	0.0652	N	0.16790	0.44	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04065	-1.0980	10	0.22706	T	0.39	.	12.3016	0.54878	0.873:0.0:0.0:0.127	.	636;635	B7ZKT9;Q2M389	.;WASH7_HUMAN	G	635	ENSP00000328062:S635G	ENSP00000328062:S635G	S	+	1	0	KIAA1033	104061044	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.340000	0.72973	0.998000	0.38996	-0.344000	0.07964	AGT		0.333	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		G	105536914	A	G	105536914	3	3	223	1	0	0	0	0	1	0	0	0	8208	188	7	3	1981	3	KIAA1033	12	105536914	Missense_Mutation	SNP	A	TCGA-B0-5706-01A-11D-1534-10	27020911	105536914	28314981	42	13545											
SSH1	54434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109182653	109182653	+	Missense_Mutation	SNP	G	G	A	rs151176410		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr12:109182653G>A	ENST00000326495.5	-	15	2354	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	SSH1_ENST00000360239.3_Missense_Mutation_p.S442F	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	754					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S754F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAAAAGGAGGGACTTTGGCAG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19439	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	PHE/SER	0,4406		0,0,2203	93	99	97		2261	4.3	1	12	dbSNP_134	97	23,8577	16.6+/-54.9	0,23,4277	yes	missense	SSH1	NM_018984.3	155	0,23,6480	AA,AG,GG		0.2674,0.0,0.1768	possibly-damaging	754/1050	109182653	23,12983	2203	4300	6503	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2261C>T	12.37:g.109182653G>A	ENSP00000315713:p.Ser754Phe		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.06	2.421461	0.42918	0.0	0.002674	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12672	2.84;2.66	5.2	4.28	0.50868	.	3.248150	0.00698	N	0.000778	T	0.31451	0.0797	L	0.57536	1.79	0.32370	N	0.555984	P;D	0.59767	0.744;0.986	B;P	0.54312	0.118;0.748	T	0.02214	-1.1194	10	0.56958	D	0.05	-10.4268	11.0894	0.48106	0.0722:0.1294:0.7984:0.0	.	754;442	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	F	442;754	ENSP00000353374:S442F;ENSP00000315713:S754F	ENSP00000315713:S754F	S	-	2	0	SSH1	107706782	0.581000	0.26741	0.969000	0.41365	0.938000	0.57974	2.520000	0.45554	1.248000	0.43934	0.655000	0.94253	TCC		0.527	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		A	109182653	G	A	109182653	3	1	223	1	0	0	0	0	1	0	0	0	15189	1174	41	2	892	2	SSH1	12	109182653	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	3645739	109182653	24669242	43	13546											
MYO16	23026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	109859148	109859148	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr13:109859148C>A	ENST00000357550.2	+	34	5582	c.5541C>A	c.(5539-5541)aaC>aaA	p.N1847K	MYO16_ENST00000356711.2_Missense_Mutation_p.N1847K	NM_001198950.1	NP_001185879.1			myosin XVI									p.N1847K(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTCCTGCAACAGGCTGCCGT	0.577																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											33	32	32					13																	109859148		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5541C>A	13.37:g.109859148C>A	ENSP00000350160:p.Asn1847Lys			Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252474	0.22880	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.80123	-1.34;-1.34	5.05	0.662	0.17880	.	0.589703	0.13394	U	0.391140	T	0.68851	0.3046	L	0.36672	1.1	0.09310	N	1	B	0.19331	0.035	B	0.14578	0.011	T	0.52571	-0.8558	9	.	.	.	.	10.2033	0.43099	0.0:0.687:0.0:0.313	.	1847	Q9Y6X6	MYO16_HUMAN	K	1847	ENSP00000349145:N1847K;ENSP00000350160:N1847K	.	N	+	3	2	MYO16	108657149	0.196000	0.23350	0.003000	0.11579	0.799000	0.45148	0.159000	0.16442	0.152000	0.19188	0.563000	0.77884	AAC		0.577	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		A	109859148	C	A	109859148	3	1	223	1	0	0	0	0	1	0	0	0	10066	477	17	4	5675	4	MYO16	13	109859148	Missense_Mutation	SNP	C	TCGA-B0-5706-01A-11D-1534-10		109859148	5310730	44	13547											
SERPINA3	12	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	95081158	95081158	+	Missense_Mutation	SNP	A	A	G	rs145819878		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr14:95081158A>G	ENST00000467132.1	+	2	1528	c.380A>G	c.(379-381)aAt>aGt	p.N127S	SERPINA3_ENST00000482740.1_5'Flank|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.N127S|SERPINA3_ENST00000393080.4_Missense_Mutation_p.N127S			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	127					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.N127S(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CGCACCCTCAATCAGTCCAGC	0.532																																																1	Substitution - Missense(1)	kidney(1)						A	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	62	60	60		380	-8.5	0	14	dbSNP_134	60	0,8600		0,0,4300	no	missense	SERPINA3	NM_001085.4	46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	127/424	95081158	1,13005	2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.380A>G	14.37:g.95081158A>G	ENSP00000450540:p.Asn127Ser		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	A	1.731	-0.494252	0.04322	2.27E-4	0.0	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.03	-8.52	0.00920	Serpin domain (3);	0.584460	0.17941	N	0.156829	T	0.66025	0.2748	N	0.20357	0.565	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.005	T	0.54403	-0.8299	10	0.11794	T	0.64	.	12.1323	0.53950	0.7108:0.0:0.2014:0.0878	.	127;152	P01011;G3V5I3	AACT_HUMAN;.	S	152;127;127;127;127	ENSP00000452367:N152S;ENSP00000376793:N127S;ENSP00000376795:N127S;ENSP00000450540:N127S	ENSP00000376793:N127S	N	+	2	0	SERPINA3	94150911	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.007000	0.13174	-1.653000	0.01500	-1.288000	0.01363	AAT		0.532	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		G	95081158	A	G	95081158	3	3	223	1	0	0	0	0	1	0	0	0	14096	101	4	3	382	3	SERPINA3	14	95081158	Missense_Mutation	SNP	A	TCGA-B0-5706-01A-11D-1534-10		95081158	12268382	45	13548											
C15orf55	256646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	34640772	34640772	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr15:34640772T>A	ENST00000333756.4	+	2	774	c.619T>A	c.(619-621)Tcc>Acc	p.S207T	NUTM1_ENST00000537011.1_Missense_Mutation_p.S235T|NUTM1_ENST00000438749.3_Missense_Mutation_p.S225T	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	207						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S207T(1)									CTCCAAAATTTCCAAGGACGT	0.557																																																1	Substitution - Missense(1)	kidney(1)											51	53	52					15																	34640772		2201	4298	6499	SO:0001583	missense	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.619T>A	15.37:g.34640772T>A	ENSP00000329448:p.Ser207Thr		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.194296	0.58017	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.25912	1.77;1.77;1.77	5.69	3.41	0.39046	Nuclear Testis  protein, N-terminal (1);	0.102344	0.44285	D	0.000464	T	0.41581	0.1165	M	0.72118	2.19	0.31905	N	0.615393	D;D;D	0.67145	0.996;0.995;0.996	D;P;D	0.65773	0.915;0.862;0.938	T	0.47509	-0.9112	10	0.23891	T	0.37	.	7.8145	0.29252	0.0:0.1651:0.0:0.8349	.	225;235;207	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	T	235;225;207;207	ENSP00000444896:S235T;ENSP00000407031:S225T;ENSP00000329448:S207T	ENSP00000329448:S207T	S	+	1	0	C15orf55	32428064	1.000000	0.71417	0.852000	0.33557	0.510000	0.34073	2.948000	0.49066	0.455000	0.26910	0.533000	0.62120	TCC		0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		A	34640772	T	A	34640772	3	1	223	1	0	0	0	0	1	0	0	0	1805	1783	62	5	625	5	C15orf55	15	34640772	Missense_Mutation	SNP	T	TCGA-B0-5706-01A-11D-1534-10		34640772	67890620	46	13549											
POLG	5428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89864148	89864148	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr15:89864148C>G	ENST00000268124.5	-	18	3163	c.2830G>C	c.(2830-2832)Gag>Cag	p.E944Q	POLG_ENST00000442287.2_Missense_Mutation_p.E944Q	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	944					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.E944Q(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTGGCATGCTCACGGCTGATG	0.557								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)											1	Substitution - Missense(1)	kidney(1)											116	92	100					15																	89864148		2200	4299	6499	SO:0001583	missense	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2830G>C	15.37:g.89864148C>G	ENSP00000268124:p.Glu944Gln		Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814546	0.90790	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.98329	-4.87;-4.87	5.15	5.15	0.70609	DNA-directed DNA polymerase, family A, palm domain (2);DNA-directed DNA polymerase, family A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99910	1.1195	10	0.72032	D	0.01	-26.7464	18.6114	0.91286	0.0:1.0:0.0:0.0	.	944	P54098	DPOG1_HUMAN	Q	944	ENSP00000268124:E944Q;ENSP00000399851:E944Q	ENSP00000268124:E944Q	E	-	1	0	POLG	87665152	1.000000	0.71417	0.926000	0.36857	0.950000	0.60333	7.487000	0.81328	2.401000	0.81631	0.591000	0.81541	GAG		0.557	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		G	89864148	C	G	89864148	3	3	223	1	0	0	0	0	1	0	0	0	12202	835	29	4	913	4	POLG	15	89864148	Missense_Mutation	SNP	C	TCGA-B0-5706-01A-11D-1534-10	55223376	89864148	12667244	47	13550											
CREBBP	1387	broad.mit.edu;ucsc.edu	37	16	3860701	3860701	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr16:3860701A>G	ENST00000262367.5	-	3	1687	c.878T>C	c.(877-879)gTg>gCg	p.V293A	CREBBP_ENST00000382070.3_Missense_Mutation_p.V293A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	293	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V293A(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGGGGGTTCACTCCAGTGGC	0.478			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	kidney(1)											154	141	145					16																	3860701		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.878T>C	16.37:g.3860701A>G	ENSP00000262367:p.Val293Ala		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.641182	0.67244	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83837	-1.77;-1.7	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000008	D	0.82990	0.5157	L	0.40543	1.245	0.50313	D	0.999866	P;D	0.56746	0.787;0.977	B;P	0.56088	0.444;0.791	T	0.79186	-0.1907	10	0.11485	T	0.65	-15.5211	15.2145	0.73254	1.0:0.0:0.0:0.0	.	361;293	Q4LE28;Q92793	.;CBP_HUMAN	A	293;361;293	ENSP00000262367:V293A;ENSP00000371502:V293A	ENSP00000262367:V293A	V	-	2	0	CREBBP	3800702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.139000	0.77314	1.993000	0.58246	0.460000	0.39030	GTG		0.478	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		G	3860701	A	G	3860701	3	3	223	1	0	0	0	0	1	0	0	0	3863	159	6	3	6566	3	CREBBP	16	3860701	Missense_Mutation	SNP	A	TCGA-B0-5706-01A-11D-1534-10		3860701	86494052	48	13551											
CDK12	51755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37681093	37681093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr17:37681093C>T	ENST00000447079.4	+	12	3295	c.3262C>T	c.(3262-3264)Cag>Tag	p.Q1088*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q1088*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1088					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.Q1088*(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGCACCACCTCAGCCTGCTCC	0.527			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Nonsense(1)	kidney(1)											77	78	78					17																	37681093		2203	4300	6503	SO:0001587	stop_gained	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3262C>T	17.37:g.37681093C>T	ENSP00000398880:p.Gln1088*		A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	39	7.523863	0.98335	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	4.98	4.98	0.66077	.	0.000000	0.41001	D	0.000969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-1.6312	16.2155	0.82211	0.0:1.0:0.0:0.0	.	.	.	.	X	1088	.	ENSP00000407720:Q1088X	Q	+	1	0	CDK12	34934619	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.496000	0.60360	2.591000	0.87537	0.563000	0.77884	CAG		0.527	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		T	37681093	C	T	37681093	4	4	223	1	0	0	0	0	0	1	0	0	3130	827	29	2	3308	2	CDK12	17	37681093	Nonsense_Mutation	SNP	C	TCGA-B0-5706-01A-11D-1534-10		37681093	43514117	49	13552											
KRT13	3860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39659631	39659631	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr17:39659631G>C	ENST00000246635.3	-	3	689	c.643C>G	c.(643-645)Ctg>Gtg	p.L215V	KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Missense_Mutation_p.L215V|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Missense_Mutation_p.L215V	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	215	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.L215V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				AGCTCATCCAGCACCCGGCGC	0.493																																																1	Substitution - Missense(1)	kidney(1)											90	89	90					17																	39659631		2203	4300	6503	SO:0001583	missense	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.643C>G	17.37:g.39659631G>C	ENSP00000246635:p.Leu215Val		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812970	0.70912	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.90133	-2.62;-2.62	4.4	4.4	0.53042	Filament (1);	0.000000	0.35525	N	0.003149	D	0.92077	0.7489	L	0.46885	1.475	0.47276	D	0.999379	D;D;D;D	0.61080	0.987;0.989;0.987;0.989	D;D;D;D	0.72075	0.976;0.976;0.96;0.976	D	0.91729	0.5395	10	0.87932	D	0	.	8.5787	0.33614	0.1706:0.0:0.8294:0.0	.	203;215;215;215	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	V	215;215;203	ENSP00000246635:L215V;ENSP00000336604:L215V	ENSP00000157775:L203V	L	-	1	2	KRT13	36913157	0.944000	0.32072	1.000000	0.80357	0.963000	0.63663	1.383000	0.34385	2.444000	0.82710	0.561000	0.74099	CTG		0.493	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		C	39659631	G	C	39659631	3	2	223	1	0	0	0	0	1	0	0	0	8452	962	34	4	757	4	KRT13	17	39659631	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	1978538	39659631	41535579	50	13553											
LSM12	124801	broad.mit.edu;hgsc.bcm.edu	37	17	42141197	42141197	+	Missense_Mutation	SNP	G	G	T	rs17854322		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr17:42141197G>T	ENST00000591247.1	-	3	552	c.230C>A	c.(229-231)cCt>cAt	p.P77H	LSM12_ENST00000585388.1_Missense_Mutation_p.P77H|LSM12_ENST00000293406.3_Missense_Mutation_p.P77H	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	77			P -> R (in dbSNP:rs17854322). {ECO:0000269|PubMed:15489334}.					p.P77H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCTAGGGGAGGAGGGGTTTC	0.438																																																1	Substitution - Missense(1)	kidney(1)											89	78	82					17																	42141197		2203	4300	6503	SO:0001583	missense	124801			BC044587	CCDS11475.1	17q21.31	2007-08-21				ENSG00000161654			26407	protein-coding gene	gene with protein product		611793				15225602	Standard	NM_152344		Approved	FLJ30656	uc002iev.3	Q3MHD2		ENST00000591247.1:c.230C>A	17.37:g.42141197G>T	ENSP00000466718:p.Pro77His		Q86YB1|Q96NL5	Missense_Mutation	SNP	ENST00000591247.1	37	CCDS11475.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860946	0.71949	.	.	ENSG00000161654	ENST00000293406	T	0.34859	1.34	5.86	3.89	0.44902	.	0.108957	0.64402	D	0.000004	T	0.53546	0.1803	M	0.64997	1.995	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.50890	-0.8774	10	0.48119	T	0.1	-0.1625	10.2004	0.43080	0.1561:0.0:0.8439:0.0	.	77	Q3MHD2	LSM12_HUMAN	H	77	ENSP00000293406:P77H	ENSP00000293406:P77H	P	-	2	0	LSM12	39496723	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.724000	0.98775	0.832000	0.34804	-0.218000	0.12543	CCT		0.438	LSM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457672.1	NM_152344		T	42141197	G	T	42141197	3	4	223	1	0	0	0	0	1	0	0	0	9055	1000	35	4	373	4	LSM12	17	42141197	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10	2481566	42141197	39054013	51	13554											
ASPSCR1	79058	broad.mit.edu;hgsc.bcm.edu	37	17	79941541	79941541	+	Silent	SNP	C	C	T	rs368306368		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr17:79941541C>T	ENST00000306739.4	+	3	367	c.270C>T	c.(268-270)aaC>aaT	p.N90N	ASPSCR1_ENST00000306729.7_Silent_p.N90N|ASPSCR1_ENST00000580534.1_Silent_p.N13N|ASPSCR1_ENST00000581647.1_Silent_p.N90N	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	90					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)		p.N90N(1)	ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGCCTGAGAACATGGTGGGTC	0.647			T	TFE3	alveolar soft part sarcoma																																		Dom	yes		17	17q25	79058	"alveolar soft part sarcoma chromosome region, candidate 1"		M	1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	50	40	44		270	0.7	0.4	17		44	0,8598		0,0,4299	no	coding-synonymous	ASPSCR1	NM_024083.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		90/554	79941541	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	79058			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.270C>T	17.37:g.79941541C>T			A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	CCDS11796.1																																																																																				0.647	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		T	79941541	C	T	79941541	2	4	223	1	0	0	0	0	0	0	0	1	1059	477	17	2		2	ASPSCR1	17	79941541	Silent	SNP	C	TCGA-B0-5706-01A-11D-1534-10	37800344	79941541	1253669	52	13555											
ANKRD12	23253	hgsc.bcm.edu;ucsc.edu	37	18	9254423	9254423	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr18:9254423delA	ENST00000262126.4	+	9	1398	c.1158delA	c.(1156-1158)cgafs	p.R386fs	ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.R363fs|ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.R363fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	386						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAGAACAACGAAAAGAAAATG	0.318																																																0													79	86	84					18																	9254423		2203	4300	6503	SO:0001589	frameshift_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1158delA	18.37:g.9254423delA	ENSP00000262126:p.Arg386fs		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Del	DEL	ENST00000262126.4	37	CCDS11843.1																																																																																				0.318	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		-	9254423	A	-	9254423	7	5	223	1	0	1	0	1	0	0	0	0	640	233	9	0	1188	0	ANKRD12	18	9254423	Frame_Shift_Del	DEL	A	TCGA-B0-5706-01A-11D-1534-10		9254423	68822825	53	13556											
HAUS1	115106	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	43700027	43700027	+	Splice_Site	SNP	G	G	A			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr18:43700027G>A	ENST00000282058.6	+	4	556		c.e4+1		RNU6-1278P_ENST00000516130.1_RNA|HAUS1_ENST00000585518.1_Intron|HAUS1_ENST00000588704.1_Splice_Site	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GTCTACAAGAGTAAGTAATTG	0.294																																					NSCLC(79;183 1423 5813 15597 38427)											1	Unknown(1)	kidney(1)											32	34	33					18																	43700027		2195	4294	6489	SO:0001630	splice_region_variant	115106			AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"HAUS augmin-like complex subunits"	25174	protein-coding gene	gene with protein product		608775	"coiled-coil domain containing 5 (spindle associated)"	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.476+1G>A	18.37:g.43700027G>A			B2RDM7|Q8N837	Splice_Site	SNP	ENST00000282058.6	37	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028749	0.54790	.	.	ENSG00000152240	ENST00000282058	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2665	0.66121	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HAUS1	41954025	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.190000	0.72057	2.414000	0.81942	0.462000	0.41574	.		0.294	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443	Intron	A	43700027	G	A	43700027	5	1	223	1	0	0	0	0	0	0	1	0	6967	1043	36	2	491	2	HAUS1	18	43700027	Splice_Site	SNP	G	TCGA-B0-5706-01A-11D-1534-10	34445604	43700027	34377221	54	13557											
MEGF8	1954	broad.mit.edu	37	19	42860310	42860310	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr19:42860310G>T	ENST00000251268.6	+	25	4468	c.4468G>T	c.(4468-4470)Gtc>Ttc	p.V1490F	MEGF8_ENST00000334370.4_Missense_Mutation_p.V1423F	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1490					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.V1423F(1)|p.V1490F(1)|p.V1031F(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGGGCAGCTGGTCTGGGAGAC	0.652																																																3	Substitution - Missense(3)	kidney(3)											27	27	27					19																	42860310		2194	4281	6475	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4468G>T	19.37:g.42860310G>T	ENSP00000251268:p.Val1490Phe		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.039719	0.75732	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.23754	1.89;1.89	4.72	4.72	0.59763	.	0.087380	0.44097	D	0.000493	T	0.45895	0.1365	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.78314	0.959;0.991	T	0.23368	-1.0190	10	0.36615	T	0.2	-27.4129	16.624	0.84937	0.0:0.0:1.0:0.0	.	1490;1423	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	F	1423;1490	ENSP00000334219:V1423F;ENSP00000251268:V1490F	ENSP00000251268:V1490F	V	+	1	0	MEGF8	47552150	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.615000	0.61190	2.468000	0.83385	0.563000	0.77884	GTC		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		T	42860310	G	T	42860310	3	4	223	1	0	0	0	0	1	0	0	0	9465	1261	44	4	4361	4	MEGF8	19	42860310	Missense_Mutation	SNP	G	TCGA-B0-5706-01A-11D-1534-10		42860310	16268673	55	13558											
SHANK1	50944	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51219979	51219979	+	Silent	SNP	G	G	A	rs545121253		TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr19:51219979G>A	ENST00000293441.1	-	1	216	c.198C>T	c.(196-198)gaC>gaT	p.D66D	SHANK1_ENST00000359082.3_Silent_p.D66D|SHANK1_ENST00000391814.1_Silent_p.D66D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	66					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.D66D(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTGGGCGTCGTCTGGGACGG	0.672																																																2	Substitution - coding silent(2)	prostate(1)|kidney(1)											81	68	72					19																	51219979		2203	4300	6503	SO:0001819	synonymous_variant	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.198C>T	19.37:g.51219979G>A			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																				0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		A	51219979	G	A	51219979	2	1	223	1	0	0	0	0	0	0	0	1	14270	1136	40	1		1	SHANK1	19	51219979	Silent	SNP	G	TCGA-B0-5706-01A-11D-1534-10	8359669	51219979	7909004	56	13559											
MYADM	91663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54377173	54377173	+	Silent	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chr19:54377173C>T	ENST00000391769.2	+	3	670	c.390C>T	c.(388-390)caC>caT	p.H130H	MYADM_ENST00000391768.2_Silent_p.H130H|MYADM_ENST00000336967.3_Silent_p.H130H|MYADM_ENST00000391771.1_Silent_p.H130H|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391770.4_Silent_p.H130H	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	130	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.H130H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCCTGTCCCACGGCCGTTCGC	0.667																																																1	Substitution - coding silent(1)	kidney(1)											88	85	86					19																	54377173		2203	4300	6503	SO:0001819	synonymous_variant	91663			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.390C>T	19.37:g.54377173C>T			B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	37	CCDS12866.1																																																																																				0.667	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		T	54377173	C	T	54377173	2	4	223	1	0	0	0	0	0	0	0	1	10008	535	19	1		1	MYADM	19	54377173	Silent	SNP	C	TCGA-B0-5706-01A-11D-1534-10	3157194	54377173	4751810	57	13560											
HCFC1	3054	broad.mit.edu;ucsc.edu	37	X	153215018	153215018	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5706-01A-11D-1534-10	TCGA-B0-5706-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60cf910-2d2e-483a-a9de-ce1e5f8d3825	78238d1e-1395-4c40-a240-416fafd642b6	g.chrX:153215018C>T	ENST00000310441.7	-	25	7020	c.6054G>A	c.(6052-6054)atG>atA	p.M2018I	HCFC1_ENST00000354233.3_Missense_Mutation_p.M1949I|HCFC1_ENST00000369984.4_Missense_Mutation_p.M2063I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	2018					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.M1921I(1)|p.M2018I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGAGGACATGGGCCGCT	0.552																																																2	Substitution - Missense(2)	kidney(2)											105	104	104					X																	153215018		1978	4129	6107	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.6054G>A	X.37:g.153215018C>T	ENSP00000309555:p.Met2018Ile		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.277400|1.277400	0.23307|0.23307	.|.	.|.	ENSG00000172534|ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233|ENST00000444191	T;T;T|.	0.02682|.	4.2;4.2;4.2|.	5.43|5.43	4.51|4.51	0.55191|0.55191	.|.	0.292983|.	0.37437|.	N|.	0.002099|.	T|T	0.11281|0.11281	0.0275|0.0275	N|N	0.03608|0.03608	-0.345|-0.345	0.25276|0.25276	N|N	0.989478|0.989478	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.13953|0.13953	-1.0490|-1.0490	10|5	0.20046|.	T|.	0.44|.	.|.	3.238|3.238	0.06771|0.06771	0.1786:0.5563:0.1695:0.0956|0.1786:0.5563:0.1695:0.0956	.|.	2018|.	P51610|.	HCFC1_HUMAN|.	I|I	2018;2063;1949|594	ENSP00000309555:M2018I;ENSP00000359001:M2063I;ENSP00000346174:M1949I|.	ENSP00000309555:M2018I|.	M|V	-|-	3|1	0|0	HCFC1|HCFC1	152868212|152868212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	1.521000|1.521000	0.35910|0.35910	2.277000|2.277000	0.76020|0.76020	0.529000|0.529000	0.55759|0.55759	ATG|GTC		0.552	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		T	153215018	C	T	153215018	3	4	223	1	0	0	0	0	1	0	0	0	6993	478	17	2	61	2	HCFC1	23	153215018	Missense_Mutation	SNP	C	TCGA-B0-5706-01A-11D-1534-10		153215018	2055542	58	13561											
HDAC1	3065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32782361	32782361	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr1:32782361G>C	ENST00000373548.3	+	3	342	c.258G>C	c.(256-258)gaG>gaC	p.E86D	HDAC1_ENST00000373541.2_5'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	86	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E86D(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	ACATGTCGGAGTACAGCAAGC	0.507																																																1	Substitution - Missense(1)	kidney(1)											180	159	166					1																	32782361		2203	4300	6503	SO:0001583	missense	3065			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.258G>C	1.37:g.32782361G>C	ENSP00000362649:p.Glu86Asp		Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	CCDS360.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.488584	0.26686	.	.	ENSG00000116478	ENST00000373548;ENST00000428704	T;T	0.70516	-0.49;-0.49	5.17	-1.25	0.09405	Histone deacetylase domain (2);	0.130049	0.26460	U	0.024247	T	0.48295	0.1492	N	0.20807	0.61	0.80722	D	1	B;B	0.11235	0.0;0.004	B;B	0.14023	0.0;0.01	T	0.15321	-1.0441	10	0.16420	T	0.52	-24.2623	9.8982	0.41331	0.5051:0.0:0.4949:0.0	.	86;86	B4DSK9;Q13547	.;HDAC1_HUMAN	D	86	ENSP00000362649:E86D;ENSP00000407859:E86D	ENSP00000362649:E86D	E	+	3	2	HDAC1	32554948	1.000000	0.71417	0.864000	0.33941	0.975000	0.68041	1.297000	0.33400	-0.438000	0.07232	-0.218000	0.12543	GAG		0.507	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		C	32782361	G	C	32782361	3	2	224	1	0	0	0	0	1	0	0	0	7006	1020	36	4	268	4	HDAC1	1	32782361	Missense_Mutation	SNP	G	TCGA-B0-5707-01A-11D-1534-10		32782361	216468260	1	13562											
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62228715	62228715	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr1:62228715G>A	ENST00000371158.2	+	3	167	c.53G>A	c.(52-54)cGc>cAc	p.R18H	INADL_ENST00000316485.6_Missense_Mutation_p.R18H	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	18	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.R18H(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTACTTGATCGCCTGAAAATG	0.373																																																1	Substitution - Missense(1)	kidney(1)											81	75	77					1																	62228715		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.53G>A	1.37:g.62228715G>A	ENSP00000360200:p.Arg18His		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833392	0.50951	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.20332	2.11;2.08	5.37	5.37	0.77165	L27 (2);L27-2 (1);	0.000000	0.64402	D	0.000002	T	0.44222	0.1283	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.995	P;D;P	0.91635	0.576;0.999;0.678	T	0.31420	-0.9944	10	0.59425	D	0.04	.	13.4064	0.60915	0.0755:0.0:0.9245:0.0	.	18;18;18	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	H	18	ENSP00000360200:R18H;ENSP00000326199:R18H	ENSP00000255202:R18H	R	+	2	0	INADL	62001303	1.000000	0.71417	0.685000	0.30070	0.158000	0.22134	6.546000	0.73887	2.491000	0.84063	0.585000	0.79938	CGC		0.373	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		A	62228715	G	A	62228715	3	1	224	1	0	0	0	0	1	0	0	0	7733	1087	38	1	59	1	INADL	1	62228715	Missense_Mutation	SNP	G	TCGA-B0-5707-01A-11D-1534-10	29446354	62228715	187021906	2	13563											
BAT2L2	23215	broad.mit.edu	37	1	171526993	171526993	+	Silent	SNP	A	A	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr1:171526993A>C	ENST00000338920.4	+	19	5973	c.5736A>C	c.(5734-5736)ccA>ccC	p.P1912P	PRRC2C_ENST00000426496.2_Silent_p.P1912P|PRRC2C_ENST00000367742.3_Silent_p.P1914P|PRRC2C_ENST00000392078.3_Silent_p.P1914P	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1912	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P1914P(2)									cttcagccccagccccagccc	0.632																																																2	Substitution - coding silent(2)	kidney(2)											27	23	24					1																	171526993		1862	3591	5453	SO:0001819	synonymous_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.5736A>C	1.37:g.171526993A>C			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	3.435	-0.115375	0.06881	.	.	ENSG00000117523	ENST00000495585	.	.	.	0.418	0.418	0.16429	.	.	.	.	.	T	0.14356	0.0347	.	.	.	0.19775	N	0.999957	.	.	.	.	.	.	T	0.27971	-1.0058	3	.	.	.	.	.	.	.	.	.	.	.	P	460	.	.	Q	+	2	0	PRRC2C	169793617	0.031000	0.19500	0.029000	0.17559	0.197000	0.23852	0.488000	0.22371	0.402000	0.25451	0.392000	0.25879	CAG		0.632	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		C	171526993	A	C	171526993	2	2	224	1	0	0	0	0	0	0	0	1	1321	175	7	5		5	BAT2L2	1	171526993	Silent	SNP	A	TCGA-B0-5707-01A-11D-1534-10	109298278	171526993	77723628	3	13564											
CENPF	1063	broad.mit.edu;ucsc.edu	37	1	214830403	214830403	+	Silent	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr1:214830403T>C	ENST00000366955.3	+	18	8781	c.8613T>C	c.(8611-8613)caT>caC	p.H2871H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2967	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.H2871H(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTATAAGCCATGAAAAGTTAG	0.393																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - coding silent(1)	kidney(1)											145	138	141					1																	214830403		2203	4300	6503	SO:0001819	synonymous_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8613T>C	1.37:g.214830403T>C			Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																				0.393	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		C	214830403	T	C	214830403	2	2	224	1	0	0	0	0	0	0	0	1	3233	1461	51	3		3	CENPF	1	214830403	Silent	SNP	T	TCGA-B0-5707-01A-11D-1534-10	43303410	214830403	34420218	4	13565											
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237796991	237796991	+	Silent	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr1:237796991A>G	ENST00000366574.2	+	43	6986	c.6669A>G	c.(6667-6669)gaA>gaG	p.E2223E	RYR2_ENST00000360064.6_Silent_p.E2221E|RYR2_ENST00000542537.1_Silent_p.E2207E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2223	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E2221E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTACTGGAAAACAGCAGTG	0.318																																																1	Substitution - coding silent(1)	kidney(1)											127	119	121					1																	237796991		1827	4085	5912	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6669A>G	1.37:g.237796991A>G			Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.318	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237796991	A	G	237796991	2	3	224	1	0	0	0	0	0	0	0	1	13775	11	1	3		3	RYR2	1	237796991	Silent	SNP	A	TCGA-B0-5707-01A-11D-1534-10	22966588	237796991	11453630	5	13566											
DDX18	8886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	118583851	118583851	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr2:118583851A>G	ENST00000263239.2	+	11	1656	c.1528A>G	c.(1528-1530)Att>Gtt	p.I510V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	510	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.I510V(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGGAATATATTCATCGTGT	0.458																																																1	Substitution - Missense(1)	kidney(1)											69	58	62					2																	118583851		2203	4300	6503	SO:0001583	missense	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1528A>G	2.37:g.118583851A>G	ENSP00000263239:p.Ile510Val		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999092	0.74818	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.78003	-1.14;-1.14	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.048358	0.85682	D	0.000000	T	0.70701	0.3254	N	0.05078	-0.115	0.80722	D	1	P	0.46578	0.88	P	0.53809	0.735	T	0.77197	-0.2676	10	0.56958	D	0.05	0.0088	14.6937	0.69103	1.0:0.0:0.0:0.0	.	510	Q9NVP1	DDX18_HUMAN	V	510;249;174	ENSP00000263239:I510V;ENSP00000415604:I174V	ENSP00000263239:I510V	I	+	1	0	DDX18	118300321	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	8.918000	0.92759	2.130000	0.65690	0.454000	0.30748	ATT		0.458	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		G	118583851	A	G	118583851	3	3	224	1	0	0	0	0	1	0	0	0	4347	449	16	3	1570	3	DDX18	2	118583851	Missense_Mutation	SNP	A	TCGA-B0-5707-01A-11D-1534-10		118583851	124615522	6	13567											
CDK15	65061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	202687539	202687539	+	Silent	SNP	C	C	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr2:202687539C>T	ENST00000374598.4	+	5	456	c.456C>T	c.(454-456)ctC>ctT	p.L152L	CDK15_ENST00000410091.3_Silent_p.L101L|CDK15_ENST00000450471.2_Silent_p.L152L|CDK15_ENST00000260967.2_Silent_p.L101L|CDK15_ENST00000434439.1_Silent_p.L152L|CDK15_ENST00000488419.1_3'UTR			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)	p.L101L(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TAGCTTCTCTCCTGAAGGGTT	0.343																																																1	Substitution - coding silent(1)	kidney(1)											137	134	135					2																	202687539		2203	4300	6503	SO:0001819	synonymous_variant	65061			AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"Cyclin-dependent kinases"	14434	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7", "PFTAIRE protein kinase 2"	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.456C>T	2.37:g.202687539C>T			A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	37																																																																																					0.343	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			T	202687539	C	T	202687539	2	4	224	1	0	0	0	0	0	0	0	1	3133	842	30	2		2	CDK15	2	202687539	Silent	SNP	C	TCGA-B0-5707-01A-11D-1534-10	84103688	202687539	40511834	7	13568											
CLDN18	51208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	137717737	137717737	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr3:137717737G>T	ENST00000343735.4	+	1	161	c.27G>T	c.(25-27)ttG>ttT	p.L9F		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	9					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GTCAGGGCTTGGGGTTCGTGG	0.567																																																0													119	97	104					3																	137717737		2203	4300	6503	SO:0001583	missense	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.27G>T	3.37:g.137717737G>T	ENSP00000340939:p.Leu9Phe		A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000343735.4	37	CCDS33862.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326425	0.41197	.	.	ENSG00000066405	ENST00000343735	D	0.90955	-2.76	4.48	2.68	0.31781	.	0.306075	0.27792	N	0.017824	D	0.86024	0.5834	.	.	.	0.80722	D	1	B	0.31383	0.321	B	0.31245	0.126	T	0.82228	-0.0561	9	0.51188	T	0.08	.	10.4446	0.44486	0.1585:0.0:0.8415:0.0	.	9	P56856-2	.	F	9	ENSP00000340939:L9F	ENSP00000340939:L9F	L	+	3	2	CLDN18	139200427	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.640000	0.37186	0.622000	0.30249	0.563000	0.77884	TTG		0.567	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026		T	137717737	G	T	137717737	3	4	224	1	0	0	0	0	1	0	0	0	3481	1339	47	4	29	4	CLDN18	3	137717737	Missense_Mutation	SNP	G	TCGA-B0-5707-01A-11D-1534-10		137717737	60304693	8	13569											
ZBBX	79740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167000259	167000259	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr3:167000259G>C	ENST00000392766.2	-	19	2244	c.1904C>G	c.(1903-1905)aCa>aGa	p.T635R	ZBBX_ENST00000307529.5_Missense_Mutation_p.T674R|ZBBX_ENST00000455345.2_Missense_Mutation_p.T674R|ZBBX_ENST00000392767.2_Missense_Mutation_p.T635R|ZBBX_ENST00000392764.1_Missense_Mutation_p.T606R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	635						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T674R(1)|p.T635R(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAAATTTGCTGTTGAAGGTCT	0.338																																																2	Substitution - Missense(2)	kidney(2)											122	117	119					3																	167000259		1816	4066	5882	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1904C>G	3.37:g.167000259G>C	ENSP00000376519:p.Thr635Arg		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771226	0.31320	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.12039	2.89;2.89;2.77;2.77;2.72	5.28	4.41	0.53225	.	0.395966	0.22197	N	0.063289	T	0.23410	0.0566	L	0.50333	1.59	0.27465	N	0.953043	D;D	0.61080	0.989;0.982	P;P	0.56042	0.79;0.621	T	0.03761	-1.1006	10	0.72032	D	0.01	-3.1007	9.925	0.41487	0.0938:0.0:0.9062:0.0	.	674;635	A8MT70-2;A8MT70	.;ZBBX_HUMAN	R	635;635;674;674;606	ENSP00000376519:T635R;ENSP00000376520:T635R;ENSP00000390232:T674R;ENSP00000305065:T674R;ENSP00000376517:T606R	ENSP00000305065:T674R	T	-	2	0	ZBBX	168482953	1.000000	0.71417	0.987000	0.45799	0.024000	0.10985	3.965000	0.56788	1.231000	0.43661	0.650000	0.86243	ACA		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		C	167000259	G	C	167000259	3	2	224	1	0	0	0	0	1	0	0	0	17521	1377	48	4	510	4	ZBBX	3	167000259	Missense_Mutation	SNP	G	TCGA-B0-5707-01A-11D-1534-10	29282522	167000259	31022171	9	13570											
PIGZ	80235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196674754	196674755	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr3:196674754_196674755insT	ENST00000412723.1	-	3	1159_1160	c.1013_1014insA	c.(1012-1014)tggfs	p.W338fs		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	338					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GCAGCCGTTGCCACGCAGCCTG	0.668																																																0																																										SO:0001589	frameshift_variant	80235			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1013_1014insA	3.37:g.196674754_196674755insT	ENSP00000413405:p.Trp338fs		Q9H9G6	Frame_Shift_Del	INS	ENST00000412723.1	37	CCDS3324.1																																																																																				0.668	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		T	196674755	-	T	196674754	7	5	224	1	0	1	1	0	0	0	0	0	11907	740	26	0	729	0	PIGZ	3	196674754	Frame_Shift_Ins	INS	-	TCGA-B0-5707-01A-11D-1534-10	29674495	196674754	1347676	10	13571	103	2									
PIGZ	80235	hgsc.bcm.edu	37	3	196674755	196674755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr3:196674755C>T	ENST00000412723.1	-	3	1159	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	338					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CAGCCGTTGCCACGCAGCCTG	0.667																																																0													61	70	67					3																	196674755		2203	4298	6501	SO:0001587	stop_gained	80235			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1013G>A	3.37:g.196674755C>T	ENSP00000413405:p.Trp338*		Q9H9G6	Nonsense_Mutation	SNP	ENST00000412723.1	37	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308463	0.60305	.	.	ENSG00000119227	ENST00000412723	.	.	.	5.17	5.17	0.71159	.	0.253705	0.28760	N	0.014232	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-11.1716	7.251	0.26150	0.1812:0.7325:0.0:0.0863	.	.	.	.	X	338	.	ENSP00000413405:W338X	W	-	2	0	PIGZ	198159152	0.974000	0.33945	0.976000	0.42696	0.239000	0.25481	1.802000	0.38853	2.581000	0.87130	0.561000	0.74099	TGG		0.667	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		T	196674755	C	T	196674755	4	4	224	1	0	0	0	0	0	1	0	0	11907	595	21	2	730	2	PIGZ	3	196674755	Nonsense_Mutation	SNP	C	TCGA-B0-5707-01A-11D-1534-10	1	196674755	1347675	11	13572	103	2									
LRBA	987	broad.mit.edu	37	4	151604748	151604748	+	Missense_Mutation	SNP	T	T	C	rs369187914		TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr4:151604748T>C	ENST00000357115.3	-	37	6119	c.5876A>G	c.(5875-5877)aAc>aGc	p.N1959S	LRBA_ENST00000510413.1_Missense_Mutation_p.N1959S|LRBA_ENST00000507224.1_Missense_Mutation_p.N1959S|LRBA_ENST00000535741.1_Missense_Mutation_p.N1959S	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1959						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.N1959S(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTGAGAATGTTGATAATTTT	0.418																																																1	Substitution - Missense(1)	kidney(1)						T	SER/ASN,SER/ASN	0,4406		0,0,2203	256	229	238		5876,5876	5.2	1	4		238	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRBA	NM_001199282.2,NM_006726.4	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1959/2864,1959/2864	151604748	1,13005	2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5876A>G	4.37:g.151604748T>C	ENSP00000349629:p.Asn1959Ser		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.8|25.8	4.679289|4.679289	0.88542|0.88542	0.0|0.0	1.16E-4|1.16E-4	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.46451|.	0.87;0.87;0.87;0.87|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Domain of unknown function DUF1088 (1);|.	0.099931|.	0.64402|.	D|.	0.000002|.	T|T	0.61248|0.61248	0.2332|0.2332	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	D;B|.	0.56746|.	0.977;0.306|.	P;B|.	0.48488|.	0.579;0.125|.	T|T	0.58561|0.58561	-0.7615|-0.7615	10|5	0.30078|.	T|.	0.28|.	.|.	15.3358|15.3358	0.74250|0.74250	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1959;1959|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	S|A	1959|612	ENSP00000446299:N1959S;ENSP00000421552:N1959S;ENSP00000349629:N1959S;ENSP00000422180:N1959S|.	ENSP00000349629:N1959S|.	N|T	-|-	2|1	0|0	LRBA|LRBA	151824198|151824198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.997000|7.997000	0.88414|0.88414	2.093000|2.093000	0.63338|0.63338	0.477000|0.477000	0.44152|0.44152	AAC|ACA		0.418	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			C	151604748	T	C	151604748	3	2	224	1	0	0	0	0	1	0	0	0	8933	1725	60	3	2803	3	LRBA	4	151604748	Missense_Mutation	SNP	T	TCGA-B0-5707-01A-11D-1534-10		151604748	39549528	12	13573											
DHX29	54505	broad.mit.edu;ucsc.edu	37	5	54579287	54579287	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr5:54579287T>C	ENST00000251636.5	-	11	1857	c.1709A>G	c.(1708-1710)cAa>cGa	p.Q570R	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	570						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.Q570R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGGTAGCTGTTGTCTTTCCTT	0.403																																																1	Substitution - Missense(1)	kidney(1)											137	145	142					5																	54579287		2203	4300	6503	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1709A>G	5.37:g.54579287T>C	ENSP00000251636:p.Gln570Arg		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028726	0.35797	.	.	ENSG00000067248	ENST00000251636	T	0.08193	3.12	5.52	5.52	0.82312	DEAD-like helicase (1);	0.113614	0.64402	D	0.000007	T	0.06234	0.0161	N	0.11789	0.175	0.45261	D	0.998261	B	0.18610	0.029	B	0.15484	0.013	T	0.39860	-0.9593	10	0.35671	T	0.21	.	15.6471	0.77063	0.0:0.0:0.0:1.0	.	570	Q7Z478	DHX29_HUMAN	R	570	ENSP00000251636:Q570R	ENSP00000251636:Q570R	Q	-	2	0	DHX29	54615044	1.000000	0.71417	0.995000	0.50966	0.668000	0.39293	7.665000	0.83852	2.101000	0.63845	0.482000	0.46254	CAA		0.403	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		C	54579287	T	C	54579287	3	2	224	1	0	0	0	0	1	0	0	0	4505	1812	63	3	2468	3	DHX29	5	54579287	Missense_Mutation	SNP	T	TCGA-B0-5707-01A-11D-1534-10		54579287	126335973	13	13574											
PAM	5066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	102326008	102326008	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr5:102326008G>A	ENST00000438793.3	+	15	1986	c.1516G>A	c.(1516-1518)Gga>Aga	p.G506R	PAM_ENST00000348126.2_Missense_Mutation_p.G399R|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.G409R|PAM_ENST00000304400.7_Missense_Mutation_p.G506R|PAM_ENST00000346918.2_Missense_Mutation_p.G506R|PAM_ENST00000455264.2_Missense_Mutation_p.G506R	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	506	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.G506R(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GGATTGGCCTGGAGTATACTT	0.438																																																2	Substitution - Missense(2)	kidney(2)											68	67	67					5																	102326008		2203	4300	6503	SO:0001583	missense	5066			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1516G>A	5.37:g.102326008G>A	ENSP00000396493:p.Gly506Arg		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.277814|4.277814	0.80692|0.80692	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	T;T;T;T;T;T|.	0.59906|.	1.13;0.96;0.95;1.13;0.23;0.96|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.156761|.	0.56097|.	D|.	0.000026|.	T|.	0.70386|.	0.3218|.	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	D;B;D;D;D;D;D|.	0.76494|.	0.999;0.216;0.998;0.999;0.988;0.999;0.993|.	D;B;D;D;P;D;D|.	0.75020|.	0.985;0.135;0.967;0.98;0.84;0.985;0.927|.	T|.	0.66685|.	-0.5861|.	10|.	0.46703|.	T|.	0.11|.	.|.	18.88|18.88	0.92352|0.92352	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	409;79;506;506;506;506;399|.	F8WE90;Q13749;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;.;AMD_HUMAN;.;.;.;.|.	R|X	506;506;399;506;409;506|278	ENSP00000396493:G506R;ENSP00000282992:G506R;ENSP00000314638:G399R;ENSP00000306100:G506R;ENSP00000274392:G409R;ENSP00000403461:G506R|.	ENSP00000274392:G409R|.	G|W	+|+	1|2	0|0	PAM|PAM	102353907|102353907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	6.200000|6.200000	0.72118|0.72118	2.566000|2.566000	0.86566|0.86566	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.438	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		A	102326008	G	A	102326008	3	1	224	1	0	0	0	0	1	0	0	0	11414	1349	47	2	1574	2	PAM	5	102326008	Missense_Mutation	SNP	G	TCGA-B0-5707-01A-11D-1534-10	47746721	102326008	78589252	14	13575											
WDR36	134430	broad.mit.edu	37	5	110428209	110428209	+	Missense_Mutation	SNP	G	G	T	rs369810645		TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr5:110428209G>T	ENST00000513710.2	+	1	227	c.223G>T	c.(223-225)Gcc>Tcc	p.A75S	WDR36_ENST00000505303.1_Missense_Mutation_p.A19S|WDR36_ENST00000506538.2_Missense_Mutation_p.A75S|CTC-551A13.2_ENST00000507269.3_RNA			Q8NI36	WDR36_HUMAN	WD repeat domain 36	75					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.A75S(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GGGGTTCCGGGCCTTGGGACT	0.602																																																1	Substitution - Missense(1)	kidney(1)											35	40	39					5																	110428209		2202	4300	6502	SO:0001583	missense	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.223G>T	5.37:g.110428209G>T	ENSP00000424628:p.Ala75Ser		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911016	0.72983	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.69175	-0.38;-0.38;0.15	5.98	5.98	0.97165	.	0.108661	0.64402	D	0.000007	T	0.62060	0.2397	L	0.52573	1.65	0.51482	D	0.999926	B	0.26902	0.163	B	0.24394	0.053	T	0.61739	-0.7001	10	0.87932	D	0	-11.121	14.1106	0.65120	0.0:0.0:0.8496:0.1504	.	75	Q8NI36	WDR36_HUMAN	S	75;75;19	ENSP00000423067:A75S;ENSP00000424628:A75S;ENSP00000422158:A19S	ENSP00000422158:A19S	A	+	1	0	WDR36	110456108	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.382000	0.66213	2.835000	0.97688	0.650000	0.86243	GCC		0.602	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		T	110428209	G	T	110428209	3	4	224	1	0	0	0	0	1	0	0	0	17295	1203	42	4	225	4	WDR36	5	110428209	Missense_Mutation	SNP	G	TCGA-B0-5707-01A-11D-1534-10	8102201	110428209	70487051	15	13576											
DSP	1832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7583844	7583844	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr6:7583844G>T	ENST00000379802.3	+	24	6690	c.6349G>T	c.(6349-6351)Gat>Tat	p.D2117Y	DSP_ENST00000418664.2_Missense_Mutation_p.D1518Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2117	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D2117Y(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAATTTGATTGATAGAGAAAC	0.443																																																1	Substitution - Missense(1)	kidney(1)											69	77	74					6																	7583844		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6349G>T	6.37:g.7583844G>T	ENSP00000369129:p.Asp2117Tyr		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119960	0.56613	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.72725	-0.68;-0.68	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000010	T	0.64382	0.2593	N	0.22421	0.69	0.23966	N	0.996321	D;D	0.71674	0.998;0.991	D;P	0.66196	0.942;0.77	T	0.62305	-0.6882	10	0.62326	D	0.03	.	13.9753	0.64268	0.0:0.0:0.8485:0.1515	.	1565;2117	Q4LE79;P15924	.;DESP_HUMAN	Y	2117;1518	ENSP00000369129:D2117Y;ENSP00000396591:D1518Y	ENSP00000369129:D2117Y	D	+	1	0	DSP	7528843	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	4.555000	0.60767	2.595000	0.87683	0.655000	0.94253	GAT		0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7583844	G	T	7583844	3	4	224	1	0	0	0	0	1	0	0	0	4783	1290	45	4	6443	4	DSP	6	7583844	Missense_Mutation	SNP	G	TCGA-B0-5707-01A-11D-1534-10		7583844	163531223	16	13577											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56394387	56394388	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C|T	C|T	C|T	A	C|T	C|T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr6:56394387_56394388CT>AA	ENST00000244364.6	-	47	9791_9792	c.9584_9585AG>TT	c.(9583-9585)cAG>cTT	p.Q3195L	DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.Q5283L|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.Q5787L|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Missense_Mutation_p.Q3521L|DST_ENST00000370769.4_Missense_Mutation_p.Q5609L	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5607					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q5609H(1)|p.Q3195H(1)|p.Q5609L(1)|p.Q3195L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACATAAGGCCTGCTGGAGGAG	0.426																																																4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.9584_9585delinsAA	6.37:g.56394387_56394388delinsAA	ENSP00000244364:p.Gln3195Leu		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000244364.6	37	CCDS47443.1																																																																																				0.426	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	NM_001723		AA	56394388	CT	AA	56394387	3	1	224	1	0	0	0	0	1	0	0	0	4785	680	24	4	6082	4	DST	6	56394387	Missense_Mutation	DNP	CT	TCGA-B0-5707-01A-11D-1534-10	48810543	56394387	114720680	17	13578											
COL19A1	1310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	70916883	70916883	+	Missense_Mutation	SNP	G	G	T	rs141812196	byFrequency	TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr6:70916883G>T	ENST00000322773.4	+	51	3436	c.3334G>T	c.(3334-3336)Ggc>Tgc	p.G1112C	COL19A1_ENST00000393344.1_Missense_Mutation_p.G734C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1112					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G1112C(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGTGCCCCAGGCCCACAGGG	0.537																																																1	Substitution - Missense(1)	kidney(1)											130	153	145					6																	70916883		2203	4300	6503	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3334G>T	6.37:g.70916883G>T	ENSP00000316030:p.Gly1112Cys		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001510	0.54254	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99637	-6.29;-6.29	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	H	0.98559	4.265	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.96799	0.9588	10	0.87932	D	0	.	18.4528	0.90710	0.0:0.0:1.0:0.0	.	1112	Q14993	COJA1_HUMAN	C	1112;734	ENSP00000316030:G1112C;ENSP00000377013:G734C	ENSP00000316030:G1112C	G	+	1	0	COL19A1	70973604	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	6.685000	0.74543	2.793000	0.96121	0.563000	0.77884	GGC		0.537	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			T	70916883	G	T	70916883	3	4	224	1	0	0	0	0	1	0	0	0	3678	1000	35	4	3532	4	COL19A1	6	70916883	Missense_Mutation	SNP	G	TCGA-B0-5707-01A-11D-1534-10	14522496	70916883	100198184	18	13579											
PDE7B	27115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	136500189	136500189	+	Silent	SNP	G	G	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr6:136500189G>A	ENST00000308191.6	+	10	1161	c.858G>A	c.(856-858)agG>agA	p.R286R	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	286	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.R286R(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	ACATCAACAGGCAGAATGAAT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											178	163	168					6																	136500189		2203	4300	6503	SO:0001819	synonymous_variant	27115			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.858G>A	6.37:g.136500189G>A			Q5W154	Silent	SNP	ENST00000308191.6	37	CCDS5175.1																																																																																				0.428	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			A	136500189	G	A	136500189	2	1	224	1	0	0	0	0	0	0	0	1	11654	1194	42	2		2	PDE7B	6	136500189	Silent	SNP	G	TCGA-B0-5707-01A-11D-1534-10	65583306	136500189	34614878	19	13580											
TNRC18	84629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	5396761	5396761	+	Silent	SNP	C	C	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr7:5396761C>A	ENST00000430969.1	-	16	5328	c.4980G>T	c.(4978-4980)ggG>ggT	p.G1660G	TNRC18_ENST00000399537.4_Silent_p.G1660G	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1660							chromatin binding (GO:0003682)	p.G1660G(2)|p.G715G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCCGCAGCCCCCGCTAGTTT	0.582																																																3	Substitution - coding silent(3)	kidney(3)											44	41	42					7																	5396761		692	1591	2283	SO:0001819	synonymous_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4980G>T	7.37:g.5396761C>A			A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																				0.582	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5396761	C	A	5396761	2	1	224	1	0	0	0	0	0	0	0	1	16344	610	22	4		4	TNRC18	7	5396761	Silent	SNP	C	TCGA-B0-5707-01A-11D-1534-10		5396761	153741902	20	13581											
MET	4233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116422132	116422132	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr7:116422132T>G	ENST00000318493.6	+	18	3854	c.3667T>G	c.(3667-3669)Ttg>Gtg	p.L1223V	MET_ENST00000539704.1_Missense_Mutation_p.L75V|MET_ENST00000397752.3_Missense_Mutation_p.L1205V			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L1223V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCACAGAGACTTGGCTGCAAG	0.393			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)											52	51	51					7																	116422132		1849	4100	5949	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3667T>G	7.37:g.116422132T>G	ENSP00000317272:p.Leu1223Val		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.105926	0.56291	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.54279	0.58;0.58;0.58	5.87	2.16	0.27623	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.133374	0.50627	D	0.000101	T	0.64627	0.2615	M	0.68593	2.085	0.54753	D	0.999985	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.996	T	0.61936	-0.6960	10	0.87932	D	0	.	6.0004	0.19517	0.0:0.261:0.1248:0.6142	.	1223;1205	P08581-2;P08581	.;MET_HUMAN	V	1205;1223;75	ENSP00000380860:L1205V;ENSP00000317272:L1223V;ENSP00000445020:L75V	ENSP00000317272:L1223V	L	+	1	2	MET	116209368	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.021000	0.41020	0.192000	0.20272	0.533000	0.62120	TTG		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			G	116422132	T	G	116422132	3	3	224	1	0	0	0	0	1	0	0	0	9487	1606	56	5	3733	5	MET	7	116422132	Missense_Mutation	SNP	T	TCGA-B0-5707-01A-11D-1534-10	111025371	116422132	42716531	21	13582											
C8orf31	286122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144124475	144124475	+	Silent	SNP	C	C	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr8:144124475C>G	ENST00000395172.1	+	2	409	c.57C>G	c.(55-57)acC>acG	p.T19T	C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	19								p.T19T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCTTCAAAACCAAGCAGCTGG	0.612																																																1	Substitution - coding silent(1)	kidney(1)											77	79	78					8																	144124475		2203	4300	6503	SO:0001819	synonymous_variant	286122				CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.57C>G	8.37:g.144124475C>G			Q6GMU7	Silent	SNP	ENST00000395172.1	37	CCDS6395.1																																																																																				0.612	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		G	144124475	C	G	144124475	2	3	224	1	0	0	0	0	0	0	0	1	2422	581	21	4		4	C8orf31	8	144124475	Silent	SNP	C	TCGA-B0-5707-01A-11D-1534-10		144124475	2239547	22	13583											
ZNF7	7553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	146067912	146067912	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr8:146067912T>C	ENST00000528372.1	+	5	1660	c.1420T>C	c.(1420-1422)Tgt>Cgt	p.C474R	ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.C485R|ZNF7_ENST00000544249.1_Missense_Mutation_p.C378R|ZNF7_ENST00000325241.6_Missense_Mutation_p.C474R|ZNF7_ENST00000325217.5_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	474					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C474R(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		ATGTGATGAGTGTGGCAAAGG	0.428																																																1	Substitution - Missense(1)	kidney(1)											78	70	73					8																	146067912		2203	4300	6503	SO:0001583	missense	7553			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1420T>C	8.37:g.146067912T>C	ENSP00000432724:p.Cys474Arg		B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.918080	0.73098	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000096	D	0.95645	0.8584	H	0.99299	4.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97207	0.9868	9	.	.	.	-14.576	13.691	0.62547	0.0:0.0:0.0:1.0	.	485;474	B4DT08;P17097	.;ZNF7_HUMAN	R	474;485;378;474	ENSP00000320627:C474R;ENSP00000393260:C485R;ENSP00000439424:C378R;ENSP00000432724:C474R	.	C	+	1	0	ZNF7	146038716	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.455000	0.66658	2.073000	0.62155	0.533000	0.62120	TGT		0.428	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		C	146067912	T	C	146067912	3	2	224	1	0	0	0	0	1	0	0	0	18107	1696	59	3	1434	3	ZNF7	8	146067912	Missense_Mutation	SNP	T	TCGA-B0-5707-01A-11D-1534-10	1943437	146067912	296110	23	13584											
FIBCD1	84929	broad.mit.edu	37	9	133799697	133799697	+	Silent	SNP	C	C	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr9:133799697C>T	ENST00000372338.4	-	3	881	c.639G>A	c.(637-639)ctG>ctA	p.L213L	FIBCD1_ENST00000448616.1_Silent_p.L213L|FIBCD1_ENST00000372337.2_Silent_p.L55L|FIBCD1_ENST00000253018.4_Silent_p.L55L	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	213						integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)	p.L213L(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GGGGCCGGCCCAGCCCCCGGT	0.701																																																1	Substitution - coding silent(1)	kidney(1)											10	13	12					9																	133799697		2191	4284	6475	SO:0001819	synonymous_variant	84929			AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.639G>A	9.37:g.133799697C>T			A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	C	4.916	0.170135	0.09339	.	.	ENSG00000130720	ENST00000444139	.	.	.	5.14	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2401	0.06778	0.1243:0.4953:0.2234:0.157	.	.	.	.	X	167	.	.	W	-	2	0	FIBCD1	132789518	0.000000	0.05858	0.998000	0.56505	0.426000	0.31534	-1.105000	0.03323	0.633000	0.30452	0.462000	0.41574	TGG		0.701	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		T	133799697	C	T	133799697	2	4	224	1	0	0	0	0	0	0	0	1	5886	581	21	2		2	FIBCD1	9	133799697	Silent	SNP	C	TCGA-B0-5707-01A-11D-1534-10		133799697	7413734	24	13585											
TUBB2C	10383	broad.mit.edu	37	9	140137360	140137360	+	Silent	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr9:140137360T>C	ENST00000340384.4	+	4	838	c.690T>C	c.(688-690)tcT>tcC	p.S230S		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	230					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)	p.S230S(1)								Albendazole(DB00518)|Mebendazole(DB00643)	ACCTGGTGTCTGCTACCATGA	0.572																																																1	Substitution - coding silent(1)	kidney(1)											41	40	40					9																	140137360		2202	4297	6499	SO:0001819	synonymous_variant	0			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"Tubulins"	20771	protein-coding gene	gene with protein product	"class IVb beta-tubulin"	602660	"tubulin, beta 2C"	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.690T>C	9.37:g.140137360T>C			A2BFA2|P05217	Silent	SNP	ENST00000340384.4	37	CCDS7039.1																																																																																				0.572	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		C	140137360	T	C	140137360	2	2	224	1	0	0	0	0	0	0	0	1	16761	1567	55	3		3	TUBB2C	9	140137360	Silent	SNP	T	TCGA-B0-5707-01A-11D-1534-10	6337663	140137360	1076071	25	13586											
RELT	84957	broad.mit.edu;ucsc.edu	37	11	73105299	73105299	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr11:73105299A>G	ENST00000064780.2	+	8	986	c.725A>G	c.(724-726)gAg>gGg	p.E242G	RELT_ENST00000393580.2_Missense_Mutation_p.E242G|RP11-809N8.2_ENST00000544674.1_RNA	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	242						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E242G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GCGGCCCTGGAGGAGCTGCTG	0.612											OREG0021216	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											63	62	62					11																	73105299		2199	4293	6492	SO:0001583	missense	84957			AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.725A>G	11.37:g.73105299A>G	ENSP00000064780:p.Glu242Gly	1142	Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903310	0.72754	.	.	ENSG00000054967	ENST00000064780;ENST00000393580;ENST00000438119	T;T	0.78364	-1.17;-1.17	5.47	5.47	0.80525	.	0.057391	0.64402	D	0.000002	D	0.85252	0.5654	L	0.60455	1.87	0.47476	D	0.999432	D	0.89917	1.0	D	0.85130	0.997	D	0.86513	0.1811	10	0.72032	D	0.01	-22.0804	12.9259	0.58260	1.0:0.0:0.0:0.0	.	242	Q969Z4	TR19L_HUMAN	G	242;242;110	ENSP00000064780:E242G;ENSP00000377207:E242G	ENSP00000064780:E242G	E	+	2	0	RELT	72782947	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.884000	0.69729	2.071000	0.62044	0.533000	0.62120	GAG		0.612	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		G	73105299	A	G	73105299	3	3	224	1	0	0	0	0	1	0	0	0	13227	304	11	3	751	3	RELT	11	73105299	Missense_Mutation	SNP	A	TCGA-B0-5707-01A-11D-1534-10		73105299	61901217	26	13587											
SLC37A4	2542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118899051	118899051	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr11:118899051C>G	ENST00000545985.1	-	4	990	c.234G>C	c.(232-234)tgG>tgC	p.W78C	SLC37A4_ENST00000330775.7_Missense_Mutation_p.W78C|SLC37A4_ENST00000357590.5_Missense_Mutation_p.W78C|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Missense_Mutation_p.W5C	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	78					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)	p.W78C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AAGAGAAGAGCCAGCGAGCAC	0.542																																																1	Substitution - Missense(1)	kidney(1)											46	55	52					11																	118899051		2081	4208	6289	SO:0001583	missense	2542			Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"Solute carriers"	4061	protein-coding gene	gene with protein product		602671	"glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.234G>C	11.37:g.118899051C>G	ENSP00000475241:p.Trp78Cys		O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37																																																																																					0.542	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		G	118899051	C	G	118899051	3	3	224	1	0	0	0	0	1	0	0	0	14606	740	26	4	1154	4	SLC37A4	11	118899051	Missense_Mutation	SNP	C	TCGA-B0-5707-01A-11D-1534-10	45793752	118899051	16107465	27	13588											
ST14	6768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	130058115	130058115	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr11:130058115T>C	ENST00000278742.5	+	2	606	c.188T>C	c.(187-189)aTc>aCc	p.I63T		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	63					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.I63T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCCGTGCTGATCGGCCTCCTC	0.617																																																1	Substitution - Missense(1)	kidney(1)											70	67	68					11																	130058115		2201	4297	6498	SO:0001583	missense	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.188T>C	11.37:g.130058115T>C	ENSP00000278742:p.Ile63Thr		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	T	9.819	1.185354	0.21870	.	.	ENSG00000149418	ENST00000278742	D	0.88664	-2.41	4.95	-9.89	0.00464	.	2.127440	0.03049	N	0.154329	T	0.76976	0.4063	N	0.14661	0.345	0.09310	N	0.999995	B	0.12013	0.005	B	0.09377	0.004	T	0.65492	-0.6155	10	0.46703	T	0.11	.	10.0178	0.42024	0.0:0.5571:0.1901:0.2528	.	63	Q9Y5Y6	ST14_HUMAN	T	63	ENSP00000278742:I63T	ENSP00000278742:I63T	I	+	2	0	ST14	129563325	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.595000	0.05727	-2.184000	0.00762	-0.242000	0.12053	ATC		0.617	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			C	130058115	T	C	130058115	3	2	224	1	0	0	0	0	1	0	0	0	15216	1435	50	3	194	3	ST14	11	130058115	Missense_Mutation	SNP	T	TCGA-B0-5707-01A-11D-1534-10	11159064	130058115	4948401	28	13589											
HOXC6	3223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54422514	54422514	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr12:54422514A>G	ENST00000243108.4	+	1	373	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC6_ENST00000394331.3_5'UTR	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	70					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Y70C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGGGGGCCGTATGACTATGGA	0.498																																																1	Substitution - Missense(1)	kidney(1)											99	94	96					12																	54422514		2203	4300	6503	SO:0001583	missense	3223				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"Homeoboxes / ANTP class : HOXL subclass"	5128	protein-coding gene	gene with protein product		142972	"homeo box C6"	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.209A>G	12.37:g.54422514A>G	ENSP00000243108:p.Tyr70Cys		B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310218	0.40895	.	.	ENSG00000197757	ENST00000243108	D	0.92699	-3.09	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.88228	0.6380	L	0.37507	1.11	0.80722	D	1	B	0.22414	0.069	B	0.25140	0.058	D	0.84403	0.0561	10	0.33141	T	0.24	.	14.7997	0.69906	1.0:0.0:0.0:0.0	.	70	P09630	HXC6_HUMAN	C	70	ENSP00000243108:Y70C	ENSP00000243108:Y70C	Y	+	2	0	HOXC6	52708781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.735000	0.91549	2.326000	0.78906	0.533000	0.62120	TAT		0.498	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			G	54422514	A	G	54422514	3	3	224	1	0	0	0	0	1	0	0	0	7317	449	16	3	211	3	HOXC6	12	54422514	Missense_Mutation	SNP	A	TCGA-B0-5707-01A-11D-1534-10		54422514	79429381	29	13590											
KL	9365	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33635592	33635592	+	Silent	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr13:33635592T>C	ENST00000380099.3	+	4	2384	c.2376T>C	c.(2374-2376)gaT>gaC	p.D792D	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	792	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.D792D(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TCACTGAAGATGAAAAAAAGC	0.403																																																1	Substitution - coding silent(1)	kidney(1)											64	66	65					13																	33635592		2203	4300	6503	SO:0001819	synonymous_variant	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2376T>C	13.37:g.33635592T>C			Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	CCDS9347.1																																																																																				0.403	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			C	33635592	T	C	33635592	2	2	224	1	0	0	0	0	0	0	0	1	8333	1461	51	3		3	KL	13	33635592	Silent	SNP	T	TCGA-B0-5707-01A-11D-1534-10		33635592	81534286	30	13591											
DIAPH3	81624	hgsc.bcm.edu	37	13	60385029	60385030	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr13:60385029_60385030insT	ENST00000400324.4	-	25	3275_3276	c.3055_3056insA	c.(3055-3057)agafs	p.R1019fs	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.R973fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.R949fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.R1019fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.R1019fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.R1008fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1019	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTCTGCTTCTCTTTTTTTGATA	0.317																																																0																																										SO:0001589	frameshift_variant	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3056dupA	13.37:g.60385036_60385036dupT	ENSP00000383178:p.Arg1019fs		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	CCDS41898.1																																																																																				0.317	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		T	60385030	-	T	60385029	7	5	224	1	0	1	1	0	0	0	0	0	4522	913	32	0	561	0	DIAPH3	13	60385029	Frame_Shift_Ins	INS	-	TCGA-B0-5707-01A-11D-1534-10	26749437	60385029	54784849	31	13592											
SPATA5L1	79029	broad.mit.edu	37	15	45695555	45695555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr15:45695555delC	ENST00000305560.6	+	1	1027	c.928delC	c.(928-930)cccfs	p.P310fs	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Frame_Shift_Del_p.P310fs	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	310						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CGCCTTGTGTCCCCAGCGGGG	0.706																																																0													11	14	13					15																	45695555		2186	4278	6464	SO:0001589	frameshift_variant	79029			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.928delC	15.37:g.45695555delC	ENSP00000305494:p.Pro310fs		C9JHR5|Q9H8W7|Q9HA41	Frame_Shift_Del	DEL	ENST00000305560.6	37	CCDS10123.1																																																																																				0.706	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		-	45695555	C	-	45695555	7	5	224	1	0	1	0	1	0	0	0	0	15017	855	30	0	930	0	SPATA5L1	15	45695555	Frame_Shift_Del	DEL	C	TCGA-B0-5707-01A-11D-1534-10		45695555	56835837	32	13593											
CLPX	10845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65449219	65449219	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr15:65449219T>C	ENST00000300107.3	-	9	1297	c.1109A>G	c.(1108-1110)cAt>cGt	p.H370R		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	370					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)	p.H370R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CCGTAATTGATGAATGCCTGG	0.378																																																1	Substitution - Missense(1)	kidney(1)											161	135	144					15																	65449219		2202	4299	6501	SO:0001583	missense	10845			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"ATPases / AAA-type"	2088	protein-coding gene	gene with protein product		615611	"ClpX (caseinolytic protease X, E. coli) homolog", "ClpX caseinolytic protease X homolog (E. coli)", "ClpX caseinolytic peptidase X homolog (E. coli)"			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1109A>G	15.37:g.65449219T>C	ENSP00000300107:p.His370Arg		A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728419	0.89390	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.39997	1.05	5.65	5.65	0.86999	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	L	0.42245	1.32	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.80764	0.994;0.942	T	0.58999	-0.7536	10	0.59425	D	0.04	.	15.8694	0.79101	0.0:0.0:0.0:1.0	.	370;370	Q9H072;O76031	.;CLPX_HUMAN	R	370	ENSP00000300107:H370R	ENSP00000300107:H370R	H	-	2	0	CLPX	63236272	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.143000	0.66587	0.455000	0.32223	CAT		0.378	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		C	65449219	T	C	65449219	3	2	224	1	0	0	0	0	1	0	0	0	3558	1464	51	3	816	3	CLPX	15	65449219	Missense_Mutation	SNP	T	TCGA-B0-5707-01A-11D-1534-10	19753664	65449219	37082173	33	13594											
DENND4A	10260	broad.mit.edu;ucsc.edu	37	15	65957694	65957694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr15:65957694C>T	ENST00000431932.2	-	29	5424	c.5216G>A	c.(5215-5217)tGg>tAg	p.W1739*	DENND4A_ENST00000443035.3_Nonsense_Mutation_p.W1782*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1739					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.W1741*(1)|p.W1782*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTGTGCATTCCAGAGAATGTA	0.368																																																2	Substitution - Nonsense(2)	kidney(2)											140	139	139					15																	65957694		1902	4118	6020	SO:0001587	stop_gained	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5216G>A	15.37:g.65957694C>T	ENSP00000396830:p.Trp1739*		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	47	13.493637	0.99745	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.7	5.7	0.88788	.	0.114988	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8309	0.96634	0.0:1.0:0.0:0.0	.	.	.	.	X	1782;1739	.	ENSP00000396830:W1739X	W	-	2	0	DENND4A	63744748	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.726000	0.84824	2.684000	0.91462	0.650000	0.86243	TGG		0.368	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		T	65957694	C	T	65957694	4	4	224	1	0	0	0	0	0	1	0	0	4435	595	21	2	391	2	DENND4A	15	65957694	Nonsense_Mutation	SNP	C	TCGA-B0-5707-01A-11D-1534-10	508475	65957694	36573698	34	13595											
CT62	196993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	71403498	71403498	+	Silent	SNP	T	T	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr15:71403498T>G	ENST00000449977.2	-	4	909	c.403A>C	c.(403-405)Agg>Cgg	p.R135R	THSD4_ENST00000355327.3_Intron|CT62_ENST00000566432.1_3'UTR	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	135								p.R135R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						TCCTATCTCCTCTGACCAGAT	0.438																																																1	Substitution - coding silent(1)	kidney(1)											90	92	91					15																	71403498		1909	4118	6027	SO:0001819	synonymous_variant	196993			BC039359, AL080151	CCDS45295.1	15q23	2011-03-09			ENSG00000225362	ENSG00000225362			27286	protein-coding gene	gene with protein product						15905330	Standard	NM_001102658		Approved		uc002ata.2	P0C5K7		ENST00000449977.2:c.403A>C	15.37:g.71403498T>G				Silent	SNP	ENST00000449977.2	37	CCDS45295.1																																																																																				0.438	CT62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420810.1	NM_001102658		G	71403498	T	G	71403498	2	3	224	1	0	0	0	0	0	0	0	1	3992	1550	54	5		5	CT62	15	71403498	Silent	SNP	T	TCGA-B0-5707-01A-11D-1534-10	5445804	71403498	31127894	35	13596											
GNA13	10672	hgsc.bcm.edu;ucsc.edu	37	17	63052574	63052574	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr17:63052574C>G	ENST00000439174.2	-	1	383	c.138G>C	c.(136-138)aaG>aaC	p.K46N	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	46					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TCACCAGCCGCTTCACATAGG	0.622																																																0													120	116	117					17																	63052574		2203	4300	6503	SO:0001583	missense	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.138G>C	17.37:g.63052574C>G	ENSP00000400717:p.Lys46Asn		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.140874	0.37825	.	.	ENSG00000120063	ENST00000439174;ENST00000239138	D	0.90444	-2.67	4.06	4.06	0.47325	.	0.060679	0.64402	U	0.000005	D	0.91784	0.7401	L	0.55103	1.725	0.80722	D	1	P	0.45634	0.863	P	0.51833	0.681	D	0.92663	0.6143	10	0.59425	D	0.04	.	16.2163	0.82224	0.0:1.0:0.0:0.0	.	46	Q14344	GNA13_HUMAN	N	46	ENSP00000400717:K46N	ENSP00000239138:K46N	K	-	3	2	GNA13	60483036	1.000000	0.71417	0.553000	0.28255	0.006000	0.05464	0.862000	0.27899	1.796000	0.52611	0.462000	0.41574	AAG		0.622	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		G	63052574	C	G	63052574	3	3	224	1	0	0	0	0	1	0	0	0	6503	796	28	4	1011	4	GNA13	17	63052574	Missense_Mutation	SNP	C	TCGA-B0-5707-01A-11D-1534-10		63052574	18142636	36	13597											
ALPK2	115701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	56246350	56246350	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr18:56246350A>G	ENST00000361673.3	-	4	1871	c.1658T>C	c.(1657-1659)cTg>cCg	p.L553P	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	553						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L553P(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTTTCTCTCAGGTTGGCATT	0.517											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											138	131	134					18																	56246350		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1658T>C	18.37:g.56246350A>G	ENSP00000354991:p.Leu553Pro	1014	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452823	0.26074	.	.	ENSG00000198796	ENST00000361673	T	0.70045	-0.45	5.22	0.0747	0.14396	.	2.117220	0.03092	N	0.159986	T	0.59770	0.2218	L	0.61218	1.895	0.19575	N	0.999968	B	0.29508	0.246	B	0.26094	0.066	T	0.34378	-0.9831	10	0.46703	T	0.11	-0.1648	1.3949	0.02258	0.5132:0.1362:0.2196:0.131	.	553	Q86TB3	ALPK2_HUMAN	P	553	ENSP00000354991:L553P	ENSP00000354991:L553P	L	-	2	0	ALPK2	54397330	0.003000	0.15002	0.000000	0.03702	0.011000	0.07611	0.694000	0.25512	-0.215000	0.10063	-0.250000	0.11733	CTG		0.517	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		G	56246350	A	G	56246350	3	3	224	1	0	0	0	0	1	0	0	0	545	188	7	3	4894	3	ALPK2	18	56246350	Missense_Mutation	SNP	A	TCGA-B0-5707-01A-11D-1534-10		56246350	21830898	37	13598											
SERPINB4	6318	hgsc.bcm.edu;ucsc.edu	37	18	61305037	61305038	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr18:61305037_61305038insAA	ENST00000341074.5	-	8	1203_1204	c.1088_1089insTT	c.(1087-1089)ttcfs	p.F363fs	SERPINB4_ENST00000356424.6_Frame_Shift_Ins_p.F311fs	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	363					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GATTACAACAGAACTCTTCATT	0.45																																																0																																										SO:0001589	frameshift_variant	6318			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1087_1088dupTT	18.37:g.61305038_61305039dupAA	ENSP00000343445:p.Phe363fs		A8K847	Frame_Shift_Ins	INS	ENST00000341074.5	37	CCDS11986.1																																																																																				0.45	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		AA	61305038	-	AA	61305037	7	5	224	1	0	1	1	0	0	0	0	0	14109	933	33	0	87	0	SERPINB4	18	61305037	Frame_Shift_Ins	INS	-	TCGA-B0-5707-01A-11D-1534-10	5058687	61305037	16772211	38	13599											
ZNF700	90592	broad.mit.edu;hgsc.bcm.edu	37	19	12060408	12060408	+	Silent	SNP	T	T	C			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr19:12060408T>C	ENST00000254321.5	+	4	1712	c.1569T>C	c.(1567-1569)ttT>ttC	p.F523F	ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Silent_p.F505F|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F523F(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CCAAGTCATTTCAAACACATG	0.368																																																1	Substitution - coding silent(1)	kidney(1)											62	64	64					19																	12060408		2203	4300	6503	SO:0001819	synonymous_variant	90592			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1569T>C	19.37:g.12060408T>C			B9EGU4	Silent	SNP	ENST00000254321.5	37	CCDS32915.1																																																																																				0.368	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		C	12060408	T	C	12060408	2	2	224	1	0	0	0	0	0	0	0	1	18109	1780	62	3		3	ZNF700	19	12060408	Silent	SNP	T	TCGA-B0-5707-01A-11D-1534-10		12060408	47068575	39	13600											
KIAA0355	9710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	34832722	34832722	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr19:34832722A>G	ENST00000299505.6	+	10	2756	c.1883A>G	c.(1882-1884)cAt>cGt	p.H628R		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	628								p.H628R(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AACTTCCTGCATGGAGATGAC	0.478																																																1	Substitution - Missense(1)	kidney(1)											64	60	61					19																	34832722		2203	4300	6503	SO:0001583	missense	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1883A>G	19.37:g.34832722A>G	ENSP00000299505:p.His628Arg		Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	A	7.290	0.610778	0.14066	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.43	0.56	0.17279	.	0.571680	0.17498	N	0.172084	T	0.26882	0.0658	N	0.14661	0.345	0.25318	N	0.989142	B	0.02656	0.0	B	0.06405	0.002	T	0.22347	-1.0219	9	0.87932	D	0	-26.3771	13.9201	0.63926	0.4916:0.5084:0.0:0.0	.	628	O15063	K0355_HUMAN	R	628	.	ENSP00000299505:H628R	H	+	2	0	KIAA0355	39524562	0.899000	0.30636	0.743000	0.31040	0.812000	0.45895	1.437000	0.34991	-0.188000	0.10499	-0.316000	0.08728	CAT		0.478	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		G	34832722	A	G	34832722	3	3	224	1	0	0	0	0	1	0	0	0	8172	217	8	3	1917	3	KIAA0355	19	34832722	Missense_Mutation	SNP	A	TCGA-B0-5707-01A-11D-1534-10	22772314	34832722	24296261	40	13601											
PTPRH	5794	broad.mit.edu;hgsc.bcm.edu	37	19	55713578	55713578	+	Silent	SNP	C	C	T			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr19:55713578C>T	ENST00000376350.3	-	6	1021	c.999G>A	c.(997-999)gaG>gaA	p.E333E	PTPRH_ENST00000263434.5_Silent_p.E155E|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	333	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E333E(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCCAGTGTACTCAACCCCGT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											142	121	128					19																	55713578		2203	4300	6503	SO:0001819	synonymous_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.999G>A	19.37:g.55713578C>T			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	CCDS33110.1																																																																																				0.567	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			T	55713578	C	T	55713578	2	4	224	1	0	0	0	0	0	0	0	1	12809	564	20	2		2	PTPRH	19	55713578	Silent	SNP	C	TCGA-B0-5707-01A-11D-1534-10	20880856	55713578	3415405	41	13602											
CABIN1	23523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24437602	24437602	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr22:24437602G>A	ENST00000398319.2	+	5	611	c.226G>A	c.(226-228)Gat>Aat	p.D76N	CABIN1_ENST00000405822.2_Missense_Mutation_p.D76N|CABIN1_ENST00000263119.5_Missense_Mutation_p.D76N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	76					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.D76N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTCATCCGGTGATGAGAAAGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											104	96	99					22																	24437602		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.226G>A	22.37:g.24437602G>A	ENSP00000381364:p.Asp76Asn		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448613	0.63178	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000536026	T;T;T	0.64085	0.08;-0.08;0.08	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	N	0.24115	0.695	0.80722	D	1	B;B	0.22851	0.076;0.046	B;B	0.23018	0.043;0.019	T	0.39941	-0.9589	10	0.20046	T	0.44	.	19.0638	0.93101	0.0:0.0:1.0:0.0	.	76;76	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	N	76	ENSP00000263119:D76N;ENSP00000384694:D76N;ENSP00000381364:D76N	ENSP00000263119:D76N	D	+	1	0	CABIN1	22767602	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.411000	0.97342	2.833000	0.97629	0.650000	0.86243	GAT		0.522	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24437602	G	A	24437602	3	1	224	1	0	0	0	0	1	0	0	0	2530	1290	45	2	240	2	CABIN1	22	24437602	Missense_Mutation	SNP	G	TCGA-B0-5707-01A-11D-1534-10		24437602	26866964	42	13603											
NOL12	79159	broad.mit.edu;ucsc.edu	37	22	38084989	38084989	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chr22:38084989C>G	ENST00000359114.4	+	4	441	c.371C>G	c.(370-372)aCc>aGc	p.T124S	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	124						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)	p.T124S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CTCGGGCTGACCCCACCTGAG	0.647																																																1	Substitution - Missense(1)	kidney(1)											78	82	81					22																	38084989		2203	4300	6503	SO:0001583	missense	79159			Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.371C>G	22.37:g.38084989C>G	ENSP00000352021:p.Thr124Ser			Missense_Mutation	SNP	ENST00000359114.4	37	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	C	8.918	0.960316	0.18507	.	.	ENSG00000256872	ENST00000359114	D	0.83163	-1.69	5.66	4.64	0.57946	.	0.307772	0.35903	N	0.002901	T	0.70465	0.3227	L	0.40543	1.245	0.26677	N	0.971618	B	0.02656	0.0	B	0.08055	0.003	T	0.53337	-0.8453	10	0.02654	T	1	-9.38	8.8606	0.35256	0.1476:0.7771:0.0:0.0753	.	124	Q9UGY1	NOL12_HUMAN	S	124	ENSP00000352021:T124S	ENSP00000352021:T124S	T	+	2	0	Z83844.2	36414935	0.001000	0.12720	0.087000	0.20705	0.236000	0.25371	0.698000	0.25571	1.397000	0.46682	0.655000	0.94253	ACC		0.647	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		G	38084989	C	G	38084989	3	3	224	1	0	0	0	0	1	0	0	0	10524	507	18	4	385	4	NOL12	22	38084989	Missense_Mutation	SNP	C	TCGA-B0-5707-01A-11D-1534-10	13647387	38084989	13219577	43	13604											
ZBTB33	10009	hgsc.bcm.edu	37	X	119387854	119387854	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chrX:119387854T>A	ENST00000326624.2	+	2	812	c.584T>A	c.(583-585)gTc>gAc	p.V195D	ZBTB33_ENST00000557385.1_Missense_Mutation_p.V195D	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	195					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						gatgatgatgTCATTTTTTGC	0.388																																																0													48	42	44					X																	119387854		2203	4299	6502	SO:0001583	missense	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.584T>A	X.37:g.119387854T>A	ENSP00000314153:p.Val195Asp		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207952	0.58343	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.20738	2.05;2.05	5.96	5.96	0.96718	.	0.060174	0.64402	D	0.000003	T	0.41949	0.1181	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	D	0.62955	0.909	T	0.30504	-0.9976	10	0.72032	D	0.01	-4.5841	14.4615	0.67453	0.0:0.0:0.0:1.0	.	195	Q86T24	KAISO_HUMAN	D	195	ENSP00000314153:V195D;ENSP00000450969:V195D	ENSP00000314153:V195D	V	+	2	0	ZBTB33;AC002086.1	119271882	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.567000	0.82357	2.014000	0.59158	0.481000	0.45027	GTC		0.388	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		A	119387854	T	A	119387854	3	1	224	1	0	0	0	0	1	0	0	0	17541	1667	58	5	586	5	ZBTB33	23	119387854	Missense_Mutation	SNP	T	TCGA-B0-5707-01A-11D-1534-10		119387854	35882706	44	13605											
BCORL1	63035	broad.mit.edu	37	X	129150165	129150165	+	Silent	SNP	G	G	A			TCGA-B0-5707-01A-11D-1534-10	TCGA-B0-5707-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb2f9f38-bce2-4746-a3c8-40abc3379b32	d88a725d-9967-4fc7-94a6-44cccccdde24	g.chrX:129150165G>A	ENST00000218147.7	+	4	3614	c.3417G>A	c.(3415-3417)gtG>gtA	p.V1139V	BCORL1_ENST00000359304.2_Silent_p.V1139V|BCORL1_ENST00000303743.5_Silent_p.V1139V|BCORL1_ENST00000540052.1_Silent_p.V1139V			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1139					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V1139V(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCAAGGCCGTGGTCCGGAGTT	0.587																																																1	Substitution - coding silent(1)	kidney(1)											22	18	20					X																	129150165		2202	4299	6501	SO:0001819	synonymous_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3417G>A	X.37:g.129150165G>A			B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.966310	0.02232	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.45	-6.71	0.01760	.	.	.	.	.	T	0.24392	0.0591	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27468	-1.0073	4	.	.	.	11.6523	6.0023	0.19527	0.2101:0.1966:0.4953:0.098	.	.	.	.	S	575	.	.	G	+	1	0	BCORL1	128977846	0.004000	0.15560	0.000000	0.03702	0.099000	0.18886	-0.103000	0.10940	-1.662000	0.01482	-1.067000	0.02272	GGT		0.587	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		A	129150165	G	A	129150165	2	1	224	1	0	0	0	0	0	0	0	1	1387	1335	47	2		2	BCORL1	23	129150165	Silent	SNP	G	TCGA-B0-5707-01A-11D-1534-10	9762311	129150165	26120395	45	13606											
HOOK1	51361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	60325915	60325915	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr1:60325915G>C	ENST00000371208.3	+	15	1704	c.1447G>C	c.(1447-1449)Ggc>Cgc	p.G483R	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.G441R	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	483	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.G483R(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					ACAGCAAGAAGGCTCTGAGAA	0.373																																																1	Substitution - Missense(1)	kidney(1)											124	130	128					1																	60325915		2203	4300	6503	SO:0001583	missense	51361			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1447G>C	1.37:g.60325915G>C	ENSP00000360252:p.Gly483Arg		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950635	0.92660	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.21191	2.02;2.02	4.95	4.95	0.65309	.	0.112626	0.64402	D	0.000007	T	0.38692	0.1050	M	0.62088	1.915	0.80722	D	1	D	0.59357	0.985	P	0.58266	0.836	T	0.03545	-1.1026	10	0.18276	T	0.48	.	18.7375	0.91761	0.0:0.0:1.0:0.0	.	483	Q9UJC3	HOOK1_HUMAN	R	483;441	ENSP00000360252:G483R;ENSP00000378928:G441R	ENSP00000360252:G483R	G	+	1	0	HOOK1	60098503	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	8.484000	0.90445	2.733000	0.93635	0.655000	0.94253	GGC		0.373	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		C	60325915	G	C	60325915	3	2	225	1	0	0	0	0	1	0	0	0	7284	1000	35	4	1505	4	HOOK1	1	60325915	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10		60325915	188924706	1	13607											
UBE2Q1	55585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154527220	154527220	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr1:154527220C>A	ENST00000292211.4	-	4	658	c.579G>T	c.(577-579)gaG>gaT	p.E193D	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	193					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.E193D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCAGGCATCTCCTCATCTT	0.527																																																1	Substitution - Missense(1)	kidney(1)											70	62	65					1																	154527220		2203	4300	6503	SO:0001583	missense	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.579G>T	1.37:g.154527220C>A	ENSP00000292211:p.Glu193Asp		B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936424	0.52972	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.14	4.24	0.50183	.	0.120680	0.53938	D	0.000044	T	0.14056	0.0340	N	0.11131	0.1	0.39994	D	0.975079	B	0.11235	0.004	B	0.08055	0.003	T	0.08722	-1.0708	9	0.19147	T	0.46	-22.947	9.3142	0.37924	0.0:0.904:0.0:0.096	.	193	Q7Z7E8	UB2Q1_HUMAN	D	193	.	ENSP00000292211:E193D	E	-	3	2	UBE2Q1	152793844	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.953000	0.40352	1.395000	0.46643	0.557000	0.71058	GAG		0.527	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		A	154527220	C	A	154527220	3	1	225	1	0	0	0	0	1	0	0	0	16874	912	32	4	729	4	UBE2Q1	1	154527220	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	94201305	154527220	94723401	2	13608											
ARHGEF11	9826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156909401	156909401	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr1:156909401C>A	ENST00000361409.2	-	36	4657	c.3915G>T	c.(3913-3915)agG>agT	p.R1305S	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R1345S|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R721S	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1305					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1345S(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCCAGATTCCTGTCCAGTT	0.512																																																1	Substitution - Missense(1)	kidney(1)											74	79	77					1																	156909401		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3915G>T	1.37:g.156909401C>A	ENSP00000354644:p.Arg1305Ser		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698637	0.30142	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.66280	-0.2;-0.2;-0.12	4.41	3.4	0.38934	.	0.374454	0.22821	N	0.055227	T	0.29850	0.0746	N	0.24115	0.695	0.09310	N	1	P;B;P	0.36789	0.57;0.265;0.57	B;B;B	0.39217	0.294;0.05;0.217	T	0.05784	-1.0864	10	0.35671	T	0.21	-4.0454	9.1025	0.36678	0.0:0.8811:0.0:0.1189	.	721;1305;1345	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	S	1345;1305;721	ENSP00000357177:R1345S;ENSP00000354644:R1305S;ENSP00000313470:R721S	ENSP00000313470:R721S	R	-	3	2	ARHGEF11	155176025	0.487000	0.25988	0.509000	0.27700	0.693000	0.40251	0.807000	0.27140	2.243000	0.73865	0.561000	0.74099	AGG		0.512	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		A	156909401	C	A	156909401	3	1	225	1	0	0	0	0	1	0	0	0	896	854	30	4	673	4	ARHGEF11	1	156909401	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	2382181	156909401	92341220	3	13609											
POU2F1	5451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	167365627	167365627	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr1:167365627G>T	ENST00000541643.3	+	11	1185	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	POU2F1_ENST00000367866.2_Missense_Mutation_p.K364N|POU2F1_ENST00000420254.3_Missense_Mutation_p.K341N|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.K353N|POU2F1_ENST00000429375.2_Missense_Mutation_p.K301N			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	341	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K364N(1)|p.K341N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ACATGTGCAAGTTGAAGCCAC	0.388																																																2	Substitution - Missense(2)	kidney(2)											148	139	142					1																	167365627		2203	4300	6503	SO:0001583	missense	5451			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1023G>T	1.37:g.167365627G>T	ENSP00000441285:p.Lys341Asn		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37		.	.	.	.	.	.	.	.	.	.	G	17.07	3.296029	0.60086	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	6.17	2.3	0.28687	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.89836	0.6830	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.993;0.995;0.996	D	0.89748	0.3938	10	0.87932	D	0	.	10.2806	0.43537	0.2625:0.0:0.7375:0.0	.	301;341;353;339;341	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	N	364;301;339;341;341;353;249	ENSP00000356840:K364N;ENSP00000401217:K301N;ENSP00000356839:K339N;ENSP00000414660:K341N;ENSP00000441285:K341N;ENSP00000356836:K353N;ENSP00000415993:K249N	ENSP00000356836:K353N	K	+	3	2	POU2F1	165632251	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.165000	0.31822	0.190000	0.20209	0.655000	0.94253	AAG		0.388	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		T	167365627	G	T	167365627	3	4	225	1	0	0	0	0	1	0	0	0	12273	1020	36	4	1057	4	POU2F1	1	167365627	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	10456226	167365627	81884994	4	13610											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201041938	201041938	+	Silent	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr1:201041938C>T	ENST00000362061.3	-	16	2398	c.2172G>A	c.(2170-2172)gaG>gaA	p.E724E	CACNA1S_ENST00000367338.3_Silent_p.E724E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	724					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E724E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAGATTCAAACTCATCGATTT	0.488																																																1	Substitution - coding silent(1)	kidney(1)											163	164	164					1																	201041938		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2172G>A	1.37:g.201041938C>T			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.488	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201041938	C	T	201041938	2	4	225	1	0	0	0	0	0	0	0	1	2549	564	20	2		2	CACNA1S	1	201041938	Silent	SNP	C	TCGA-B0-5709-01A-11D-1534-10	33676311	201041938	48208683	5	13611											
GMCL1	64395	broad.mit.edu	37	2	70057234	70057234	+	Silent	SNP	G	G	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr2:70057234G>A	ENST00000282570.3	+	1	461	c.210G>A	c.(208-210)gaG>gaA	p.E70E	GMCL1_ENST00000468386.2_3'UTR	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	70					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)		p.E70E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						AGACGGACGAGGATGAGGAGG	0.682																																																1	Substitution - coding silent(1)	kidney(1)											18	18	18					2																	70057234		2188	4290	6478	SO:0001819	synonymous_variant	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.210G>A	2.37:g.70057234G>A			Q9H826|Q9H8V7|Q9H927	Silent	SNP	ENST00000282570.3	37	CCDS1895.1																																																																																				0.682	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		A	70057234	G	A	70057234	2	1	225	1	0	0	0	0	0	0	0	1	6487	991	35	2		2	GMCL1	2	70057234	Silent	SNP	G	TCGA-B0-5709-01A-11D-1534-10		70057234	173142139	6	13612											
C2orf3	6936	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	75907426	75907426	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr2:75907426G>T	ENST00000321027.3	-	12	1838	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	GCFC2_ENST00000541687.1_3'UTR|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000409857.3_Missense_Mutation_p.L531I	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	569					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.L569I(1)									GGATCCCAAAGGAATTCTACA	0.313																																																1	Substitution - Missense(1)	kidney(1)											101	104	103					2																	75907426		2203	4299	6502	SO:0001583	missense	0			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1705C>A	2.37:g.75907426G>T	ENSP00000318690:p.Leu569Ile		A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	G	1.342	-0.593917	0.03771	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.13089	2.62;2.63	5.42	0.168	0.15012	GC-rich sequence DNA-binding factor domain (1);	0.333157	0.31102	N	0.008253	T	0.02571	0.0078	N	0.00760	-1.21	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.37798	-0.9690	10	0.08599	T	0.76	-8.028	3.33	0.07080	0.137:0.0856:0.4571:0.3203	.	569	P16383	GCF_HUMAN	I	569;531	ENSP00000318690:L569I;ENSP00000386552:L531I	ENSP00000318690:L569I	L	-	1	0	C2orf3	75760934	0.526000	0.26298	0.979000	0.43373	0.904000	0.53231	0.264000	0.18497	0.433000	0.26313	-0.271000	0.10264	CTT		0.313	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		T	75907426	G	T	75907426	3	4	225	1	0	0	0	0	1	0	0	0	2164	1000	35	4	664	4	C2orf3	2	75907426	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	5850192	75907426	167291947	7	13613											
TTC21B	79809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	166731270	166731270	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr2:166731270G>T	ENST00000243344.7	-	29	4083	c.3946C>A	c.(3946-3948)Cct>Act	p.P1316T	TTC21B_ENST00000536175.1_Missense_Mutation_p.P254T	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1316					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.P1316T(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TATTTTCAAGGTCTTAAAGAC	0.348																																																1	Substitution - Missense(1)	kidney(1)											65	64	64					2																	166731270		2203	4300	6503	SO:0001583	missense	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3946C>A	2.37:g.166731270G>T	ENSP00000243344:p.Pro1316Thr		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261220	0.59431	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;D	0.83335	-1.23;-1.71	5.61	2.39	0.29439	.	0.229728	0.44902	D	0.000418	T	0.72637	0.3485	L	0.45744	1.44	0.28185	N	0.927999	B	0.02656	0.0	B	0.08055	0.003	T	0.65425	-0.6171	10	0.72032	D	0.01	.	3.2791	0.06908	0.0817:0.3119:0.3123:0.2941	.	1316	Q7Z4L5	TT21B_HUMAN	T	254;1316	ENSP00000438692:P254T;ENSP00000243344:P1316T	ENSP00000243344:P1316T	P	-	1	0	TTC21B	166439516	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.387000	0.34430	1.367000	0.46095	0.650000	0.86243	CCT		0.348	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		T	166731270	G	T	166731270	3	4	225	1	0	0	0	0	1	0	0	0	16693	1261	44	4	8	4	TTC21B	2	166731270	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	90823844	166731270	76468103	8	13614											
WDR75	84128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	190324065	190324065	+	Silent	SNP	G	G	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr2:190324065G>A	ENST00000314761.4	+	8	753	c.693G>A	c.(691-693)agG>agA	p.R231R		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	231						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R231R(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			CCAATAGGAGGAATTTTTATG	0.318																																																1	Substitution - coding silent(1)	kidney(1)											100	103	102					2																	190324065		2203	4300	6503	SO:0001819	synonymous_variant	84128			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.693G>A	2.37:g.190324065G>A			Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Silent	SNP	ENST00000314761.4	37	CCDS2298.1																																																																																				0.318	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		A	190324065	G	A	190324065	2	1	225	1	0	0	0	0	0	0	0	1	17330	1165	41	2		2	WDR75	2	190324065	Silent	SNP	G	TCGA-B0-5709-01A-11D-1534-10	23592795	190324065	52875308	9	13615											
SAG	6295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234235795	234235795	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr2:234235795C>T	ENST00000409110.1	+	7	694	c.464C>T	c.(463-465)gCa>gTa	p.A155V	SAG_ENST00000449594.2_Missense_Mutation_p.A21V	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	155					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)	p.A155V(2)		cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GAGGTCAAAGCATTCGCCACA	0.592																																																2	Substitution - Missense(2)	kidney(2)											115	118	117					2																	234235795		2092	4223	6315	SO:0001583	missense	6295				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.464C>T	2.37:g.234235795C>T	ENSP00000386444:p.Ala155Val		A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067344	0.36470	.	.	ENSG00000130561	ENST00000252857;ENST00000447536;ENST00000409110;ENST00000449594	T;T;T	0.18174	2.56;2.56;2.23	3.96	3.96	0.45880	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.157173	0.56097	D	0.000028	T	0.13114	0.0318	L	0.36672	1.1	0.80722	D	1	B;P	0.34892	0.089;0.474	B;B	0.26770	0.02;0.073	T	0.09684	-1.0663	10	0.37606	T	0.19	-7.7945	14.7721	0.69688	0.0:1.0:0.0:0.0	.	21;155	B7Z7L5;P10523	.;ARRS_HUMAN	V	155;155;155;21	ENSP00000408937:A155V;ENSP00000386444:A155V;ENSP00000392889:A21V	ENSP00000252857:A155V	A	+	2	0	SAG	233900534	1.000000	0.71417	0.934000	0.37439	0.157000	0.22087	6.723000	0.74742	2.204000	0.70986	0.555000	0.69702	GCA		0.592	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		T	234235795	C	T	234235795	3	4	225	1	0	0	0	0	1	0	0	0	13814	710	25	2	486	2	SAG	2	234235795	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	43911730	234235795	8963578	10	13616											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188268	10188268	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr3:10188268delG	ENST00000256474.2	+	2	1251	c.411delG	c.(409-411)gtgfs	p.V137fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	137	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)			adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AATTATTTGTGCCATCTCTCA	0.423		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	0													218	202	207					3																	10188268		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.411delG	3.37:g.10188268delG	ENSP00000256474:p.Val137fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.423	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188268	G	-	10188268	7	5	225	1	0	1	0	1	0	0	0	0	17167	1306	46	0	417	0	VHL	3	10188268	Frame_Shift_Del	DEL	G	TCGA-B0-5709-01A-11D-1534-10		10188268	187834162	11	13617											
TSEN2	80746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	12545142	12545142	+	Silent	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr3:12545142C>T	ENST00000284995.6	+	5	1077	c.690C>T	c.(688-690)ctC>ctT	p.L230L	TSEN2_ENST00000402228.3_Silent_p.L230L|TSEN2_ENST00000314571.7_Silent_p.L230L|TSEN2_ENST00000454502.2_Intron|RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000415684.1_Silent_p.L230L|TSEN2_ENST00000444864.1_Silent_p.L230L|TSEN2_ENST00000383797.5_Silent_p.L230L	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	230					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)	p.L230L(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CTCTCATCCTCCAGCGTGGCC	0.587																																																1	Substitution - coding silent(1)	kidney(1)											52	47	49					3																	12545142		2203	4300	6503	SO:0001819	synonymous_variant	80746			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.690C>T	3.37:g.12545142C>T			B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Silent	SNP	ENST00000284995.6	37	CCDS2611.1																																																																																				0.587	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		T	12545142	C	T	12545142	2	4	225	1	0	0	0	0	0	0	0	1	16617	842	30	2		2	TSEN2	3	12545142	Silent	SNP	C	TCGA-B0-5709-01A-11D-1534-10	2356874	12545142	185477288	12	13618											
BSN	8927	broad.mit.edu;hgsc.bcm.edu	37	3	49662433	49662433	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr3:49662433G>A	ENST00000296452.4	+	2	364	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	84					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.E84K(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACCCCAAGGAACCCCTGGG	0.557																																																1	Substitution - Missense(1)	kidney(1)											43	48	47					3																	49662433		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.250G>A	3.37:g.49662433G>A	ENSP00000296452:p.Glu84Lys		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196315	0.58126	.	.	ENSG00000164061	ENST00000296452	T	0.15834	2.39	5.48	5.48	0.80851	.	0.117022	0.37857	N	0.001914	T	0.14141	0.0342	N	0.22421	0.69	0.35465	D	0.796827	B	0.22346	0.068	B	0.15870	0.014	T	0.11470	-1.0586	10	0.29301	T	0.29	.	18.958	0.92668	0.0:0.0:1.0:0.0	.	84	Q9UPA5	BSN_HUMAN	K	84	ENSP00000296452:E84K	ENSP00000296452:E84K	E	+	1	0	BSN	49637437	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	8.273000	0.89887	2.583000	0.87209	0.563000	0.77884	GAA		0.557	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		A	49662433	G	A	49662433	3	1	225	1	0	0	0	0	1	0	0	0	1532	1175	41	2	256	2	BSN	3	49662433	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	37117291	49662433	148359997	13	13619											
EBLN2	55096	hgsc.bcm.edu	37	3	73111481	73111481	+	Missense_Mutation	SNP	C	C	A	rs3832186|rs201649088	byFrequency	TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr3:73111481C>A	ENST00000533473.1	+	1	672	c.249C>A	c.(247-249)aaC>aaA	p.N83K	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	83										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTGGGAAAAACAGACAGTATC	0.478																																																0													34	34	34					3																	73111481		1942	4138	6080	SO:0001583	missense	55096				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.249C>A	3.37:g.73111481C>A	ENSP00000432104:p.Asn83Lys		Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	C	4.916	0.170168	0.09339	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.458	0.458	0.16670	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.13407	0.009	T	0.23368	-1.0190	7	0.31617	T	0.26	.	.	.	.	.	83	Q6P2I7	EBLN2_HUMAN	K	83	.	ENSP00000432104:N83K	N	+	3	2	EBLN2	73194171	0.047000	0.20315	0.005000	0.12908	0.005000	0.04900	0.305000	0.19254	0.482000	0.27582	0.484000	0.47621	AAC		0.478	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		A	73111481	C	A	73111481	3	1	225	1	0	0	0	0	1	0	0	0	4886	477	17	4	251	4	EBLN2	3	73111481	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	23449048	73111481	124910949	14	13620											
C3orf33	285315	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	155493591	155493591	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr3:155493591C>A	ENST00000340171.2	-	3	319	c.221G>T	c.(220-222)aGa>aTa	p.R74I	C3orf33_ENST00000534941.1_Missense_Mutation_p.R31I			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	74					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)	p.R25I(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACATTTCTTCTTATAAATTC	0.299																																																1	Substitution - Missense(1)	kidney(1)											95	94	94					3																	155493591		1800	4055	5855	SO:0001583	missense	285315			AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.221G>T	3.37:g.155493591C>A	ENSP00000342512:p.Arg74Ile		A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	37		.	.	.	.	.	.	.	.	.	.	C	18.35	3.603662	0.66445	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.48836	0.8;0.8	5.45	2.36	0.29203	.	0.160773	0.53938	D	0.000048	T	0.49949	0.1587	M	0.62723	1.935	0.51767	D	0.999932	D	0.53151	0.958	P	0.51135	0.66	T	0.46512	-0.9186	10	0.72032	D	0.01	-4.332	6.4576	0.21938	0.0:0.3143:0.0:0.6857	.	74	Q6P1S2	CC033_HUMAN	I	31;74;74	ENSP00000445446:R31I;ENSP00000342512:R74I	ENSP00000342512:R74I	R	-	2	0	C3orf33	156976285	1.000000	0.71417	0.696000	0.30242	0.999000	0.98932	0.948000	0.29096	0.193000	0.20303	0.655000	0.94253	AGA		0.299	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657		A	155493591	C	A	155493591	3	1	225	1	0	0	0	0	1	0	0	0	2225	913	32	4	675	4	C3orf33	3	155493591	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	82382110	155493591	42528839	15	13621											
SLC26A1	10861	broad.mit.edu	37	4	983003	983003	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr4:983003delT	ENST00000361661.2	-	4	2101	c.1724delA	c.(1723-1725)gagfs	p.E575fs	SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000509744.1_Intron|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Frame_Shift_Del_p.E575fs|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	575	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGAGCCCCCCTCCTTCCTCCT	0.692																																																0													18	21	20					4																	983003		2191	4288	6479	SO:0001589	frameshift_variant	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1724delA	4.37:g.983003delT	ENSP00000354721:p.Glu575fs		A8K9N2|Q7Z5R3|Q96BK0	Frame_Shift_Del	DEL	ENST00000361661.2	37	CCDS33934.1																																																																																				0.692	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		-	983003	T	-	983003	7	5	225	1	0	1	0	1	0	0	0	0	14520	1551	54	0	488	0	SLC26A1	4	983003	Frame_Shift_Del	DEL	T	TCGA-B0-5709-01A-11D-1534-10		983003	190171273	16	13622											
FAM105B	90268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	14693052	14693052	+	Silent	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr5:14693052C>T	ENST00000284274.4	+	7	1032	c.954C>T	c.(952-954)gtC>gtT	p.V318V		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		318	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.V318V(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TCATCACAGTCTACCCCACCG	0.542																																																1	Substitution - coding silent(1)	kidney(1)											106	113	111					5																	14693052		2095	4219	6314	SO:0001819	synonymous_variant	90268																														ENST00000284274.4:c.954C>T	5.37:g.14693052C>T			D3DTD3|Q8NAS0|Q96IA3	Silent	SNP	ENST00000284274.4	37	CCDS43302.1																																																																																				0.542	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			T	14693052	C	T	14693052	2	4	225	1	0	0	0	0	0	0	0	1	5390	900	32	2		2	FAM105B	5	14693052	Silent	SNP	C	TCGA-B0-5709-01A-11D-1534-10		14693052	166222208	17	13623											
GPR98	84059	broad.mit.edu;ucsc.edu	37	5	90281200	90281200	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr5:90281200C>A	ENST00000405460.2	+	85	18109	c.18013C>A	c.(18013-18015)Cac>Aac	p.H6005N	GPR98_ENST00000425867.2_Missense_Mutation_p.H1666N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6005					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.H6005N(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAATGATGAGCACACAGAGAG	0.403																																																1	Substitution - Missense(1)	kidney(1)											302	289	293					5																	90281200		1990	4170	6160	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18013C>A	5.37:g.90281200C>A	ENSP00000384582:p.His6005Asn		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023449	0.75390	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.41758	0.99;0.99	5.7	5.7	0.88788	GPCR, family 2-like (1);	0.049849	0.85682	D	0.000000	T	0.36276	0.0961	L	0.28115	0.83	0.80722	D	1	P;P;P	0.46784	0.817;0.884;0.782	B;P;B	0.45794	0.372;0.493;0.255	T	0.04678	-1.0934	9	.	.	.	.	14.641	0.68726	0.1456:0.8544:0.0:0.0	.	1666;6005;1666	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	N	6005;6005;1666	ENSP00000384582:H6005N;ENSP00000392618:H1666N	.	H	+	1	0	GPR98	90316956	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.654000	0.67974	2.690000	0.91761	0.557000	0.71058	CAC		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90281200	C	A	90281200	3	1	225	1	0	0	0	0	1	0	0	0	6723	710	25	4	18351	4	GPR98	5	90281200	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	75588148	90281200	90634060	18	13624											
ZKSCAN3	80317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28329175	28329175	+	Silent	SNP	A	A	G			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr6:28329175A>G	ENST00000377255.3	+	4	774	c.477A>G	c.(475-477)caA>caG	p.Q159Q	ZKSCAN3_ENST00000252211.2_Silent_p.Q159Q|ZKSCAN3_ENST00000341464.5_Silent_p.Q11Q	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	159					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q159Q(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CAGGGTCACAAAGTAGCCAAT	0.433																																																1	Substitution - coding silent(1)	kidney(1)											110	96	101					6																	28329175		2203	4300	6503	SO:0001819	synonymous_variant	80317			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.477A>G	6.37:g.28329175A>G			B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	CCDS4650.1																																																																																				0.433	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		G	28329175	A	G	28329175	2	3	225	1	0	0	0	0	0	0	0	1	17693	11	1	3		3	ZKSCAN3	6	28329175	Silent	SNP	A	TCGA-B0-5709-01A-11D-1534-10		28329175	142785892	19	13625											
OR2B3	442184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	29054173	29054173	+	Silent	SNP	A	A	G			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr6:29054173A>G	ENST00000377173.2	-	1	917	c.853T>C	c.(853-855)Ttg>Ctg	p.L285L		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L285L(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGGGAGTTCAACATGGATGTG	0.403																																																1	Substitution - coding silent(1)	kidney(1)											92	84	87					6																	29054173		2203	4300	6503	SO:0001819	synonymous_variant	442184				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"GPCR / Class A : Olfactory receptors"	8238	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 3 pseudogene"	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.853T>C	6.37:g.29054173A>G			B0UYQ1|Q5ST41|Q96R13	Silent	SNP	ENST00000377173.2	37	CCDS34358.1																																																																																				0.403	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			G	29054173	A	G	29054173	2	3	225	1	0	0	0	0	0	0	0	1	10992	40	2	3		3	OR2B3	6	29054173	Silent	SNP	A	TCGA-B0-5709-01A-11D-1534-10	724998	29054173	142060894	20	13626											
COL19A1	1310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	70878567	70878567	+	Silent	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr6:70878567C>T	ENST00000322773.4	+	40	2664	c.2562C>T	c.(2560-2562)ggC>ggT	p.G854G	COL19A1_ENST00000393344.1_Silent_p.G476G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	854	Collagen-like 9.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G854G(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCGATCCTGGCCCAGTGGTAT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											147	139	142					6																	70878567		2203	4300	6503	SO:0001819	synonymous_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2562C>T	6.37:g.70878567C>T			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	CCDS4970.1																																																																																				0.388	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			T	70878567	C	T	70878567	2	4	225	1	0	0	0	0	0	0	0	1	3678	726	26	2		2	COL19A1	6	70878567	Silent	SNP	C	TCGA-B0-5709-01A-11D-1534-10	41824394	70878567	100236500	21	13627											
STXBP5	134957	broad.mit.edu	37	6	147588238	147588238	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr6:147588238T>C	ENST00000321680.6	+	7	649	c.649T>C	c.(649-651)Tct>Cct	p.S217P	STXBP5_ENST00000367480.3_Missense_Mutation_p.S217P|STXBP5_ENST00000367481.3_Missense_Mutation_p.S217P|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.S217P	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	217					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.S217P(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGGCTTTGAATCTGGAACAGT	0.313																																																2	Substitution - Missense(2)	kidney(2)											194	200	198					6																	147588238		2203	4299	6502	SO:0001583	missense	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.649T>C	6.37:g.147588238T>C	ENSP00000321826:p.Ser217Pro		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460387	0.63401	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.67523	1.51;4.93;1.51;-0.27	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.108661	0.64402	D	0.000004	T	0.68274	0.2983	M	0.73962	2.25	0.80722	D	1	D;D	0.57899	0.969;0.981	P;P	0.51016	0.656;0.536	T	0.71755	-0.4497	10	0.46703	T	0.11	.	16.0637	0.80856	0.0:0.0:0.0:1.0	.	217;217	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	P	217	ENSP00000356451:S217P;ENSP00000441479:S217P;ENSP00000321826:S217P;ENSP00000356450:S217P	ENSP00000321826:S217P	S	+	1	0	STXBP5	147629931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.197000	0.70478	0.533000	0.62120	TCT		0.313	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			C	147588238	T	C	147588238	3	2	225	1	0	0	0	0	1	0	0	0	15361	1435	50	3	675	3	STXBP5	6	147588238	Missense_Mutation	SNP	T	TCGA-B0-5709-01A-11D-1534-10	76709671	147588238	23526829	22	13628											
IGF2R	3482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160509177	160509177	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr6:160509177G>T	ENST00000356956.1	+	42	6466	c.6318G>T	c.(6316-6318)aaG>aaT	p.K2106N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2106					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.K2106N(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTGCATTCAAGAGGTCAGGAG	0.522											OREG0017769	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											79	69	72					6																	160509177		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6318G>T	6.37:g.160509177G>T	ENSP00000349437:p.Lys2106Asn	1809	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	1.097	-0.662342	0.03454	.	.	ENSG00000197081	ENST00000356956	T	0.29397	1.57	5.0	-1.84	0.07809	Mannose-6-phosphate receptor, binding (1);	1.022190	0.07744	N	0.947400	T	0.05502	0.0145	N	0.25647	0.755	0.35145	D	0.769253	B	0.02656	0.0	B	0.09377	0.004	T	0.43540	-0.9385	10	0.19147	T	0.46	-10.7121	2.0642	0.03599	0.1372:0.302:0.2699:0.291	.	2106	P11717	MPRI_HUMAN	N	2106	ENSP00000349437:K2106N	ENSP00000349437:K2106N	K	+	3	2	IGF2R	160429167	0.000000	0.05858	0.704000	0.30370	0.217000	0.24651	-0.672000	0.05244	-0.374000	0.07967	-0.140000	0.14226	AAG		0.522	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		T	160509177	G	T	160509177	3	4	225	1	0	0	0	0	1	0	0	0	7578	933	33	4	6484	4	IGF2R	6	160509177	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	12920939	160509177	10605890	23	13629											
SEMA3E	9723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82997339	82997339	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr7:82997339T>A	ENST00000307792.3	-	17	2358	c.1891A>T	c.(1891-1893)Aga>Tga	p.R631*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R571*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	631	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R631*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTAACCACTCTGTCATCTGTC	0.403																																																1	Substitution - Nonsense(1)	kidney(1)											111	107	109					7																	82997339		2203	4300	6503	SO:0001587	stop_gained	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1891A>T	7.37:g.82997339T>A	ENSP00000303212:p.Arg631*		B4E1P1|Q75M94|Q75M97	Nonsense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	T	38	6.706643	0.97776	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	.	.	.	5.77	1.87	0.25490	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2243	0.65848	0.0:0.0:0.4796:0.5204	.	.	.	.	X	631;571;631	.	ENSP00000303212:R631X	R	-	1	2	SEMA3E	82835275	0.998000	0.40836	0.998000	0.56505	0.969000	0.65631	2.360000	0.44151	0.075000	0.16796	0.477000	0.44152	AGA		0.403	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		A	82997339	T	A	82997339	4	1	225	1	0	0	0	0	0	1	0	0	14034	1588	55	5	440	5	SEMA3E	7	82997339	Nonsense_Mutation	SNP	T	TCGA-B0-5709-01A-11D-1534-10		82997339	76141324	24	13630											
PPP1R9A	55607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94540664	94540664	+	Silent	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr7:94540664C>T	ENST00000433881.1	+	2	1771	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	PPP1R9A_ENST00000424654.1_Silent_p.D413D|PPP1R9A_ENST00000289495.5_Silent_p.D413D|PPP1R9A_ENST00000340694.4_Silent_p.D413D|PPP1R9A_ENST00000456331.2_Silent_p.D413D|PPP1R9A_ENST00000433360.1_Silent_p.D413D			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	413					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.D413D(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATAATTCAGACTGGGGAGAGA	0.423										HNSCC(28;0.073)																																						2	Substitution - coding silent(2)	kidney(2)											63	58	60					7																	94540664		2203	4300	6503	SO:0001819	synonymous_variant	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1239C>T	7.37:g.94540664C>T			A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	CCDS34683.1																																																																																				0.423	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		T	94540664	C	T	94540664	2	4	225	1	0	0	0	0	0	0	0	1	12383	564	20	2		2	PPP1R9A	7	94540664	Silent	SNP	C	TCGA-B0-5709-01A-11D-1534-10	11543325	94540664	64597999	25	13631											
SLC26A4	5172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107334908	107334908	+	Silent	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr7:107334908C>T	ENST00000265715.3	+	11	1548	c.1324C>T	c.(1324-1326)Ctg>Ttg	p.L442L	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Intron|SLC26A4_ENST00000543100.1_Silent_p.L11L|SLC26A4_ENST00000544569.1_Silent_p.L29L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	442					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.L442L(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGGGAAGCTTCTGGAACCCTT	0.463									Pendred syndrome																																							1	Substitution - coding silent(1)	kidney(1)											183	163	170					7																	107334908		2203	4300	6503	SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1324C>T	7.37:g.107334908C>T			B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																				0.463	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		T	107334908	C	T	107334908	2	4	225	1	0	0	0	0	0	0	0	1	14525	912	32	2		2	SLC26A4	7	107334908	Silent	SNP	C	TCGA-B0-5709-01A-11D-1534-10	12794244	107334908	51803755	26	13632											
WASL	8976	broad.mit.edu	37	7	123332841	123332841	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr7:123332841G>C	ENST00000223023.4	-	9	1239	c.907C>G	c.(907-909)Cct>Gct	p.P303A		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	303	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.P303A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCTagcaggaggaggagga	0.617																																																1	Substitution - Missense(1)	kidney(1)											46	50	49					7																	123332841		2203	4300	6503	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.907C>G	7.37:g.123332841G>C	ENSP00000223023:p.Pro303Ala		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416432	0.25552	.	.	ENSG00000106299	ENST00000223023	D	0.91945	-2.94	5.39	5.39	0.77823	Wiscott-Aldrich syndrome, C-terminal (1);	0.112290	0.64402	D	0.000008	D	0.95338	0.8487	M	0.63169	1.94	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.94398	0.7620	10	0.39692	T	0.17	-8.9232	19.209	0.93747	0.0:0.0:1.0:0.0	.	303	O00401	WASL_HUMAN	A	303	ENSP00000223023:P303A	ENSP00000223023:P303A	P	-	1	0	WASL	123120077	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.853000	0.62911	2.528000	0.85240	0.644000	0.83932	CCT		0.617	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		C	123332841	G	C	123332841	3	2	225	1	0	0	0	0	1	0	0	0	17261	1174	41	4	622	4	WASL	7	123332841	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	15997933	123332841	35805822	27	13633											
CSMD1	64478	broad.mit.edu	37	8	3245041	3245041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr8:3245041C>T	ENST00000520002.1	-	19	3315	c.2760G>A	c.(2758-2760)tgG>tgA	p.W920*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.W919*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.W920*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.W920*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.W919*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.W919*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.W920*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	920	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.W648*(1)|p.W919*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGCGTGGTTCCACTGGTGGT	0.587																																																2	Substitution - Nonsense(2)	kidney(2)											41	47	45					8																	3245041		2109	4225	6334	SO:0001587	stop_gained	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2760G>A	8.37:g.3245041C>T	ENSP00000430733:p.Trp920*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	12.038172|12.038172	0.99630|0.99630	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|.	.|.	.|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.46288|.	0.1385|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40478|.	-0.9561|.	3|.	.|0.02654	.|T	.|1	.|.	18.5306|18.5306	0.90990|0.90990	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	400|920;920;782;919;919;919	.|.	.|ENSP00000320445:W782X	E|W	-|-	1|3	0|0	CSMD1|CSMD1	3232448|3232448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	7.635000|7.635000	0.83286|0.83286	2.374000|2.374000	0.81015|0.81015	0.650000|0.650000	0.86243|0.86243	GAA|TGG		0.587	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	3245041	C	T	3245041	4	4	225	1	0	0	0	0	0	1	0	0	3946	856	30	2	8149	2	CSMD1	8	3245041	Nonsense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10		3245041	143118981	28	13634											
KLF10	7071	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	103664082	103664082	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr8:103664082C>A	ENST00000285407.6	-	3	778	c.478G>T	c.(478-480)Gct>Tct	p.A160S	KLF10_ENST00000395884.3_Missense_Mutation_p.A149S	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	160					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A160S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGGGCATCAGCTGTATGACGA	0.473											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)											1	Substitution - Missense(1)	kidney(1)											114	117	116					8																	103664082		2203	4300	6503	SO:0001583	missense	7071			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.478G>T	8.37:g.103664082C>A	ENSP00000285407:p.Ala160Ser	1375	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561584	0.86335	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.18338	2.22;2.3	6.02	6.02	0.97574	.	0.065623	0.64402	D	0.000006	T	0.42245	0.1194	M	0.70275	2.135	0.58432	D	0.999996	D;D	0.71674	0.998;0.998	P;P	0.62089	0.898;0.898	T	0.04767	-1.0928	10	0.51188	T	0.08	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	160;149	Q13118;O75411	KLF10_HUMAN;.	S	160;149	ENSP00000285407:A160S;ENSP00000379222:A149S	ENSP00000285407:A160S	A	-	1	0	KLF10	103733258	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	6.772000	0.75001	2.865000	0.98341	0.655000	0.94253	GCT		0.473	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			A	103664082	C	A	103664082	3	1	225	1	0	0	0	0	1	0	0	0	8340	797	28	4	972	4	KLF10	8	103664082	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	100419041	103664082	42699940	29	13635											
TJP2	9414	hgsc.bcm.edu;ucsc.edu	37	9	71842779	71842780	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr9:71842779_71842780insA	ENST00000377245.4	+	8	1517_1518	c.1309_1310insA	c.(1309-1311)gaafs	p.E437fs	TJP2_ENST00000535702.1_Frame_Shift_Ins_p.E441fs|TJP2_ENST00000348208.4_Frame_Shift_Ins_p.E437fs|TJP2_ENST00000539225.1_Frame_Shift_Ins_p.E468fs|TJP2_ENST00000265384.7_Frame_Shift_Ins_p.E437fs|TJP2_ENST00000453658.2_Frame_Shift_Ins_p.E414fs	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	437					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GAAGCTGAAGGAAAGGCCAAGG	0.351																																																0																																										SO:0001589	frameshift_variant	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1312dupA	9.37:g.71842782_71842782dupA	ENSP00000366453:p.Glu437fs		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Frame_Shift_Ins	INS	ENST00000377245.4	37	CCDS6627.1																																																																																				0.351	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		A	71842780	-	A	71842779	7	5	225	1	0	1	1	0	0	0	0	0	15935	1175	41	0	1496	0	TJP2	9	71842779	Frame_Shift_Ins	INS	-	TCGA-B0-5709-01A-11D-1534-10		71842779	69370652	30	13636											
PSMB7	5695	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	127177673	127177673	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr9:127177673A>T	ENST00000259457.3	-	1	45	c.32T>A	c.(31-33)gTt>gAt	p.V11D	PSMB7_ENST00000536392.1_Missense_Mutation_p.V11D|PSMB7_ENST00000498485.1_5'Flank	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	11					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.V11D(1)		breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						GAAGCCTCCAACTGGTGGAGC	0.612											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											44	44	44					9																	127177673		2203	4300	6503	SO:0001583	missense	5695			AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"Proteasome (prosome, macropain) subunits"	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.32T>A	9.37:g.127177673A>T	ENSP00000259457:p.Val11Asp	1555	B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	Missense_Mutation	SNP	ENST00000259457.3	37	CCDS6855.1	.	.	.	.	.	.	.	.	.	.	A	7.198	0.592922	0.13875	.	.	ENSG00000136930	ENST00000259457;ENST00000536392;ENST00000441097	T;T;T	0.34859	1.34;1.34;1.34	6.17	5.04	0.67666	.	0.414071	0.27080	N	0.021033	T	0.27524	0.0676	L	0.46614	1.455	0.51767	D	0.999939	B;B	0.24533	0.105;0.0	B;B	0.26202	0.067;0.001	T	0.06972	-1.0797	10	0.12103	T	0.63	-10.809	6.7231	0.23340	0.7701:0.1528:0.0771:0.0	.	11;11	B4E0P1;Q99436	.;PSB7_HUMAN	D	11	ENSP00000259457:V11D;ENSP00000440247:V11D;ENSP00000393157:V11D	ENSP00000259457:V11D	V	-	2	0	PSMB7	126217494	0.004000	0.15560	0.950000	0.38849	0.328000	0.28507	0.357000	0.20199	1.159000	0.42565	0.533000	0.62120	GTT		0.612	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055525.1	NM_002799		T	127177673	A	T	127177673	3	4	225	1	0	0	0	0	1	0	0	0	12687	43	2	5	833	5	PSMB7	9	127177673	Missense_Mutation	SNP	A	TCGA-B0-5709-01A-11D-1534-10	55334894	127177673	14035758	31	13637											
GBF1	8729	hgsc.bcm.edu;ucsc.edu	37	10	104118423	104118423	+	Silent	SNP	G	G	T	rs142955445	byFrequency	TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr10:104118423G>T	ENST00000369983.3	+	10	1208	c.948G>T	c.(946-948)ggG>ggT	p.G316G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	316					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCTCTCCAGGGTACAGCACAG	0.522																																																0													99	95	97					10																	104118423		2203	4300	6503	SO:0001819	synonymous_variant	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.948G>T	10.37:g.104118423G>T			Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	CCDS7533.1																																																																																				0.522	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			T	104118423	G	T	104118423	2	4	225	1	0	0	0	0	0	0	0	1	6273	1248	44	4		4	GBF1	10	104118423	Silent	SNP	G	TCGA-B0-5709-01A-11D-1534-10		104118423	31416324	32	13638											
JAKMIP3	282973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	133961488	133961488	+	Silent	SNP	C	C	G			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr10:133961488C>G	ENST00000298622.4	+	13	1920	c.1782C>G	c.(1780-1782)ctC>ctG	p.L594L	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	594						Golgi apparatus (GO:0005794)		p.L594L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGCTCGGCTCAGACACGAGG	0.552																																																1	Substitution - coding silent(1)	kidney(1)											112	90	97					10																	133961488		2201	4292	6493	SO:0001819	synonymous_variant	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1782C>G	10.37:g.133961488C>G			A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	CCDS44494.1																																																																																				0.552	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		G	133961488	C	G	133961488	2	3	225	1	0	0	0	0	0	0	0	1	7944	813	29	4		4	JAKMIP3	10	133961488	Silent	SNP	C	TCGA-B0-5709-01A-11D-1534-10	29843065	133961488	1573259	33	13639											
KBTBD4	55709	broad.mit.edu;hgsc.bcm.edu	37	11	47599123	47599123	+	Silent	SNP	T	T	C			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr11:47599123T>C	ENST00000526005.1	-	2	582	c.429A>G	c.(427-429)caA>caG	p.Q143Q	NDUFS3_ENST00000534208.1_5'Flank|NDUFS3_ENST00000528192.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000533290.1_Silent_p.Q168Q|NDUFS3_ENST00000263774.4_5'Flank|KBTBD4_ENST00000525720.1_Silent_p.Q192Q|KBTBD4_ENST00000395288.2_Silent_p.Q143Q|NDUFS3_ENST00000529276.1_5'Flank|KBTBD4_ENST00000430070.2_Silent_p.Q159Q|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000534716.2_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	143								p.Q143Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						AGTTTCCCACTTGCACTGTGC	0.537																																																1	Substitution - coding silent(1)	kidney(1)											173	171	172					11																	47599123		2201	4298	6499	SO:0001819	synonymous_variant	55709			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.429A>G	11.37:g.47599123T>C			D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Silent	SNP	ENST00000526005.1	37	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	T	9.227	1.034777	0.19590	.	.	ENSG00000123444	ENST00000359900	.	.	.	5.54	-1.7	0.08159	.	.	.	.	.	T	0.62282	0.2415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62544	-0.6832	5	0.87932	D	0	-7.0581	9.3245	0.37984	0.0:0.683:0.0953:0.2217	.	.	.	.	R	158	.	ENSP00000352971:K158R	K	-	2	0	KBTBD4	47555699	0.720000	0.27996	0.983000	0.44433	0.979000	0.70002	-0.083000	0.11286	-0.643000	0.05473	0.379000	0.24179	AAG		0.537	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		C	47599123	T	C	47599123	2	2	225	1	0	0	0	0	0	0	0	1	7997	1606	56	3		3	KBTBD4	11	47599123	Silent	SNP	T	TCGA-B0-5709-01A-11D-1534-10		47599123	87407393	34	13640											
MS4A14	84689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60183100	60183100	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr11:60183100A>C	ENST00000300187.6	+	5	936	c.659A>C	c.(658-660)cAa>cCa	p.Q220P	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.Q108P|MS4A14_ENST00000531783.1_Missense_Mutation_p.Q253P|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q203P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	220						integral component of membrane (GO:0016021)		p.Q220P(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TTAGTCTCCCAACCAGGTAAT	0.398																																																1	Substitution - Missense(1)	kidney(1)											96	97	96					11																	60183100		2203	4300	6503	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.659A>C	11.37:g.60183100A>C	ENSP00000300187:p.Gln220Pro		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.853180	0.32699	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.12147	4.31;4.31;4.31;2.71	3.63	-0.249	0.13011	.	5.378320	0.00397	N	0.000041	T	0.11281	0.0275	L	0.36672	1.1	0.09310	N	1	B;B	0.24768	0.091;0.111	B;B	0.23150	0.026;0.044	T	0.32295	-0.9912	10	0.72032	D	0.01	-0.2242	0.9413	0.01356	0.495:0.1999:0.112:0.193	.	203;220	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	P	108;220;203;253	ENSP00000437222:Q108P;ENSP00000300187:Q220P;ENSP00000378453:Q203P;ENSP00000433761:Q253P	ENSP00000300187:Q220P	Q	+	2	0	MS4A14	59939676	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.323000	0.19593	-0.058000	0.13177	-0.297000	0.09499	CAA		0.398	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			C	60183100	A	C	60183100	3	2	225	1	0	0	0	0	1	0	0	0	9860	130	5	5	677	5	MS4A14	11	60183100	Missense_Mutation	SNP	A	TCGA-B0-5709-01A-11D-1534-10	12583977	60183100	74823416	35	13641											
STT3A	3703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	125479362	125479362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr11:125479362C>A	ENST00000529196.1	+	11	1201	c.995C>A	c.(994-996)tCg>tAg	p.S332*	STT3A_ENST00000531491.1_Nonsense_Mutation_p.S240*|STT3A_ENST00000392708.4_Nonsense_Mutation_p.S332*			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	332					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.S332*(1)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CGTTTCTACTCGCTGCTGGAT	0.453																																																1	Substitution - Nonsense(1)	kidney(1)											200	189	193					11																	125479362		2201	4299	6500	SO:0001587	stop_gained	3703			BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.995C>A	11.37:g.125479362C>A	ENSP00000436962:p.Ser332*		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Nonsense_Mutation	SNP	ENST00000529196.1	37	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	C	39	7.881100	0.98539	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.62	5.62	0.85841	.	0.173195	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8117	19.2822	0.94055	0.0:1.0:0.0:0.0	.	.	.	.	X	332;332;240	.	ENSP00000376472:S332X	S	+	2	0	STT3A	124984572	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	7.610000	0.82949	2.656000	0.90262	0.453000	0.30009	TCG		0.453	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		A	125479362	C	A	125479362	4	1	225	1	0	0	0	0	0	1	0	0	15338	893	31	4	1029	4	STT3A	11	125479362	Nonsense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	65296262	125479362	9527154	36	13642											
CD27	939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6554632	6554632	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr12:6554632C>A	ENST00000266557.3	+	2	408	c.179C>A	c.(178-180)gCt>gAt	p.A60D	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	60					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)	p.A60D(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						AGAAAGGCTGCTCAGTGTGAT	0.582																																																1	Substitution - Missense(1)	kidney(1)											148	121	130					12																	6554632		2203	4300	6503	SO:0001583	missense	939			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"Tumor necrosis factor receptor superfamily", "CD molecules"	11922	protein-coding gene	gene with protein product		186711	"tumor necrosis factor receptor superfamily, member 7"	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.179C>A	12.37:g.6554632C>A	ENSP00000266557:p.Ala60Asp		B2RDZ0	Missense_Mutation	SNP	ENST00000266557.3	37	CCDS8545.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194283	0.78902	.	.	ENSG00000139193	ENST00000266557	D	0.94184	-3.37	4.54	4.54	0.55810	TNFR/CD27/30/40/95 cysteine-rich region (2);	1.218180	0.05882	N	0.626604	D	0.92028	0.7474	L	0.32530	0.975	0.09310	N	0.999997	P	0.43231	0.801	P	0.45829	0.494	D	0.84241	0.0472	10	0.54805	T	0.06	-0.3705	12.6495	0.56753	0.0:1.0:0.0:0.0	.	60	P26842	CD27_HUMAN	D	60	ENSP00000266557:A60D	ENSP00000266557:A60D	A	+	2	0	CD27	6424893	0.025000	0.19082	0.032000	0.17829	0.507000	0.33981	1.977000	0.40589	2.359000	0.80004	0.563000	0.77884	GCT		0.582	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1			A	6554632	C	A	6554632	3	1	225	1	0	0	0	0	1	0	0	0	2992	797	28	4	185	4	CD27	12	6554632	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10		6554632	127297263	37	13643											
SOX5	6660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	23998950	23998950	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr12:23998950T>A	ENST00000451604.2	-	3	549	c.448A>T	c.(448-450)Aaa>Taa	p.K150*	SOX5_ENST00000537393.1_Nonsense_Mutation_p.K115*|SOX5_ENST00000545921.1_Nonsense_Mutation_p.K140*|SOX5_ENST00000309359.1_Nonsense_Mutation_p.K137*|SOX5_ENST00000546136.1_Nonsense_Mutation_p.K137*|SOX5_ENST00000541536.1_Nonsense_Mutation_p.K137*|SOX5_ENST00000381381.2_Nonsense_Mutation_p.K137*|SOX5_ENST00000541847.1_Nonsense_Mutation_p.K140*|SOX5_ENST00000441133.2_Nonsense_Mutation_p.K115*			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	150					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K150*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCTTCCATTTTCCTCTGCTTC	0.458																																																1	Substitution - Nonsense(1)	kidney(1)											118	108	111					12																	23998950		2203	4300	6503	SO:0001587	stop_gained	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.448A>T	12.37:g.23998950T>A	ENSP00000398273:p.Lys150*		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Nonsense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	36	5.960560	0.97145	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	.	.	.	5.79	5.79	0.91817	.	0.144833	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1299	0.81422	0.0:0.0:0.0:1.0	.	.	.	.	X	137;137;137;150;102;115;137;140;140;115;137	.	ENSP00000308927:K137X	K	-	1	0	SOX5	23890217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.684000	0.84104	2.215000	0.71742	0.528000	0.53228	AAA		0.458	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		A	23998950	T	A	23998950	4	1	225	1	0	0	0	0	0	1	0	0	14960	1792	62	5	1905	5	SOX5	12	23998950	Nonsense_Mutation	SNP	T	TCGA-B0-5709-01A-11D-1534-10	17444318	23998950	109852945	38	13644											
KRT5	3852	broad.mit.edu;hgsc.bcm.edu	37	12	52910988	52910988	+	Missense_Mutation	SNP	C	C	T	rs200072843		TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr12:52910988C>T	ENST00000252242.4	-	6	1511	c.1121G>A	c.(1120-1122)cGg>cAg	p.R374Q		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	374	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.R374Q(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCGCCATGCCGGCCAGCTGT	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		19071	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											95	90	92					12																	52910988		2203	4300	6503	SO:0001583	missense	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1121G>A	12.37:g.52910988C>T	ENSP00000252242:p.Arg374Gln		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.15	2.150228	0.37923	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	T	0.74947	-0.89	5.63	3.79	0.43588	Filament (1);	0.000000	0.53938	D	0.000052	T	0.61388	0.2343	L	0.46819	1.47	0.09310	N	1	P	0.47034	0.889	B	0.37508	0.252	T	0.52019	-0.8631	10	0.25751	T	0.34	.	8.8377	0.35121	0.0:0.6935:0.0:0.3065	.	374	P13647	K2C5_HUMAN	Q	374;339	ENSP00000252242:R374Q	ENSP00000252242:R374Q	R	-	2	0	KRT5	51197255	0.031000	0.19500	0.568000	0.28447	0.996000	0.88848	0.623000	0.24447	0.712000	0.32039	0.655000	0.94253	CGG		0.498	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			T	52910988	C	T	52910988	3	4	225	1	0	0	0	0	1	0	0	0	8481	652	23	1	667	1	KRT5	12	52910988	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	28912038	52910988	80940907	39	13645											
ACADS	35	broad.mit.edu;ucsc.edu	37	12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	rs199633532		TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_ENST00000411593.2_Missense_Mutation_p.R326H|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CTGACCTGGCGCGCTGCCATG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17348	0.0		0.001	False		,,,				2504	0.0															2	Substitution - Missense(2)	prostate(1)|kidney(1)	GRCh37	CM067634	ACADS	M							46	52	50					12																	121176678		2203	4300	6503	SO:0001583	missense	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.989G>A	12.37:g.121176678G>A	ENSP00000242592:p.Arg330His		P78331	Missense_Mutation	SNP	ENST00000242592.4	37	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357217	0.82243	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.96619	-4.07;-4.07	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.053187	0.64402	D	0.000001	D	0.96694	0.8921	L	0.33792	1.035	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.737;0.737	D;B;B	0.80764	0.994;0.14;0.14	D	0.97682	1.0173	10	0.62326	D	0.03	.	17.5068	0.87748	0.0:0.0:1.0:0.0	.	326;330;330	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	H	330;326	ENSP00000242592:R330H;ENSP00000401045:R326H	ENSP00000242592:R330H	R	+	2	0	ACADS	119661061	1.000000	0.71417	0.916000	0.36221	0.916000	0.54674	7.185000	0.77714	2.125000	0.65367	0.561000	0.74099	CGC		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		A	121176678	G	A	121176678	3	1	225	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	68265690	121176678	12675217	40	13646											
SACS	26278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	23907922	23907922	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr13:23907922G>C	ENST00000382292.3	-	9	10366	c.10093C>G	c.(10093-10095)Cta>Gta	p.L3365V	SACS_ENST00000402364.1_Missense_Mutation_p.L2615V|SACS_ENST00000382298.3_Missense_Mutation_p.L3365V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3365					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.L3365V(1)|p.L3218V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATATAATGTAGAGCCTTCAAG	0.353																																																2	Substitution - Missense(2)	kidney(2)											76	75	75					13																	23907922		2203	4299	6502	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10093C>G	13.37:g.23907922G>C	ENSP00000371729:p.Leu3365Val		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.583138	0.00872	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89810	-2.41;-2.57;-2.41	5.94	-2.84	0.05751	.	0.597847	0.17164	N	0.184532	T	0.72518	0.3470	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58679	-0.7594	10	0.21540	T	0.41	.	7.3338	0.26599	0.1225:0.113:0.646:0.1185	.	3365	Q9NZJ4	SACS_HUMAN	V	3365;2615;3365	ENSP00000371729:L3365V;ENSP00000385844:L2615V;ENSP00000371735:L3365V	ENSP00000371729:L3365V	L	-	1	2	SACS	22805922	0.059000	0.20769	0.388000	0.26195	0.990000	0.78478	-0.074000	0.11450	-0.412000	0.07519	-0.367000	0.07326	CTA		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23907922	G	C	23907922	3	2	225	1	0	0	0	0	1	0	0	0	13810	933	33	4	3650	4	SACS	13	23907922	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10		23907922	91261956	41	13647											
MYCBP2	23077	broad.mit.edu;ucsc.edu	37	13	77629761	77629761	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr13:77629761A>G	ENST00000544440.2	-	80	13482	c.13465T>C	c.(13465-13467)Ttt>Ctt	p.F4489L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.F4489L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.F4527L					MYC binding protein 2, E3 ubiquitin protein ligase									p.F4489L(1)|p.F4527L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCATTATAAAACCTCACACCA	0.348																																																2	Substitution - Missense(2)	kidney(2)											129	100	110					13																	77629761		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13465T>C	13.37:g.77629761A>G	ENSP00000444596:p.Phe4489Leu			Missense_Mutation	SNP	ENST00000544440.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.059042|4.059042	0.76074|0.76074	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.32988|.	1.43;1.43;1.43|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69851|0.69851	0.3157|0.3157	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	P|.	0.49447|.	0.924|.	P|.	0.60682|.	0.878|.	T|T	0.68949|0.68949	-0.5274|-0.5274	10|5	0.72032|.	D|.	0.01|.	.|.	15.0607|15.0607	0.71951|0.71951	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	4489|.	O75592|.	MYCB2_HUMAN|.	L|A	4489;4527;4489|909	ENSP00000349892:F4489L;ENSP00000384288:F4527L;ENSP00000444596:F4489L|.	ENSP00000349892:F4489L|.	F|V	-|-	1|2	0|0	MYCBP2|MYCBP2	76527762|76527762	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.753000|8.753000	0.91637|0.91637	2.130000|2.130000	0.65690|0.65690	0.533000|0.533000	0.62120|0.62120	TTT|GTT		0.348	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77629761	A	G	77629761	3	3	225	1	0	0	0	0	1	0	0	0	10020	43	2	3	473	3	MYCBP2	13	77629761	Missense_Mutation	SNP	A	TCGA-B0-5709-01A-11D-1534-10	53721839	77629761	37540117	42	13648											
SPRED1	161742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	38591742	38591742	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr15:38591742C>G	ENST00000299084.4	+	2	1061	c.201C>G	c.(199-201)gaC>gaG	p.D67E	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	67	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.D67E(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GACTCAGGGACAAAATGGTAA	0.368									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)											1	Substitution - Missense(1)	kidney(1)											77	69	72					15																	38591742		2200	4297	6497	SO:0001583	missense	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.201C>G	15.37:g.38591742C>G	ENSP00000299084:p.Asp67Glu		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832720	0.71258	.	.	ENSG00000166068	ENST00000299084	D	0.88431	-2.38	5.72	5.72	0.89469	EVH1 (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	M	0.80422	2.495	0.58432	D	0.999998	D	0.64830	0.994	D	0.71870	0.975	D	0.93108	0.6514	10	0.87932	D	0	-25.2534	7.49	0.27456	0.0:0.8033:0.0:0.1967	.	67	Q7Z699	SPRE1_HUMAN	E	67	ENSP00000299084:D67E	ENSP00000299084:D67E	D	+	3	2	SPRED1	36379034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.797000	0.55514	2.709000	0.92574	0.655000	0.94253	GAC		0.368	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			G	38591742	C	G	38591742	3	3	225	1	0	0	0	0	1	0	0	0	15097	477	17	4	207	4	SPRED1	15	38591742	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10		38591742	63939650	43	13649											
DMXL2	23312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51778458	51778458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr15:51778458G>T	ENST00000251076.5	-	23	5581	c.5294C>A	c.(5293-5295)tCa>tAa	p.S1765*	DMXL2_ENST00000449909.3_Nonsense_Mutation_p.S1129*|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.S1765*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1765						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.S1765*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATAAGTGGATGAAGTCTCAAA	0.353																																																1	Substitution - Nonsense(1)	kidney(1)											84	86	85					15																	51778458		2196	4293	6489	SO:0001587	stop_gained	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5294C>A	15.37:g.51778458G>T	ENSP00000251076:p.Ser1765*		B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	42	9.625105	0.99223	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	.	.	.	X	1765;1765;1129	.	ENSP00000251076:S1765X	S	-	2	0	DMXL2	49565750	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.602000	0.98312	2.826000	0.97356	0.655000	0.94253	TCA		0.353	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		T	51778458	G	T	51778458	4	4	225	1	0	0	0	0	0	1	0	0	4597	1294	45	4	3903	4	DMXL2	15	51778458	Nonsense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	13186716	51778458	50752934	44	13650	104	2									
DMXL2	23312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51778460	51778460	+	Silent	SNP	A	A	G			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr15:51778460A>G	ENST00000251076.5	-	23	5579	c.5292T>C	c.(5290-5292)acT>acC	p.T1764T	DMXL2_ENST00000449909.3_Silent_p.T1128T|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.T1764T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1764						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.T1764T(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGTGGATGAAGTCTCAAATT	0.348																																																1	Substitution - coding silent(1)	kidney(1)											83	86	85					15																	51778460		2196	4293	6489	SO:0001819	synonymous_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5292T>C	15.37:g.51778460A>G			B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																				0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		G	51778460	A	G	51778460	2	3	225	1	0	0	0	0	0	0	0	1	4597	59	3	3		3	DMXL2	15	51778460	Silent	SNP	A	TCGA-B0-5709-01A-11D-1534-10	2	51778460	50752932	45	13651	104	2									
TCF12	6938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	57489997	57489998	+	Missense_Mutation	DNP	AA	AA	GG			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr15:57489997_57489998AA>GG	ENST00000267811.5	+	8	857_858	c.553_554AA>GG	c.(553-555)AAg>GGg	p.K185G	TCF12_ENST00000557843.1_Missense_Mutation_p.K185G|TCF12_ENST00000452095.2_Missense_Mutation_p.K181G|TCF12_ENST00000333725.5_Missense_Mutation_p.K185G|TCF12_ENST00000438423.2_Missense_Mutation_p.K185G	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	185					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.K185R(2)|p.K185E(2)|p.K181E(1)|p.K181R(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		AAAAGTCAGAAAGGTGCCTCCT	0.351			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	6	Substitution - Missense(6)	kidney(6)																																								SO:0001583	missense	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	Exception_encountered	15.37:g.57489997_57489998delinsGG	ENSP00000267811:p.Lys185Gly		Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1																																																																																				0.351	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		GG	57489998	AA	GG	57489997	3	3	225	1	0	0	0	0	1	0	0	0	15692	15	1	3	579	3	TCF12	15	57489997	Missense_Mutation	DNP	AA	TCGA-B0-5709-01A-11D-1534-10	5711537	57489997	45041395	46	13652											
FEM1B	10116	broad.mit.edu;ucsc.edu	37	15	68582835	68582835	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr15:68582835A>T	ENST00000306917.4	+	2	1754	c.1139A>T	c.(1138-1140)aAc>aTc	p.N380I		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	380					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)	p.N380I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GGTAACAGGAACACCCACAAG	0.408																																																1	Substitution - Missense(1)	kidney(1)											83	79	81					15																	68582835		2200	4298	6498	SO:0001583	missense	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1139A>T	15.37:g.68582835A>T	ENSP00000307298:p.Asn380Ile		O43146	Missense_Mutation	SNP	ENST00000306917.4	37	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873714	0.51695	.	.	ENSG00000169018	ENST00000306917	T	0.38560	1.13	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	L	0.31207	0.915	0.80722	D	1	P	0.42941	0.794	B	0.35931	0.214	T	0.06789	-1.0807	10	0.30078	T	0.28	-41.5039	15.3634	0.74499	1.0:0.0:0.0:0.0	.	380	Q9UK73	FEM1B_HUMAN	I	380	ENSP00000307298:N380I	ENSP00000307298:N380I	N	+	2	0	FEM1B	66369889	1.000000	0.71417	0.963000	0.40424	0.956000	0.61745	9.264000	0.95635	2.220000	0.72140	0.397000	0.26171	AAC		0.408	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			T	68582835	A	T	68582835	3	4	225	1	0	0	0	0	1	0	0	0	5812	43	2	5	1145	5	FEM1B	15	68582835	Missense_Mutation	SNP	A	TCGA-B0-5709-01A-11D-1534-10	11092838	68582835	33948557	47	13653											
LOC81691	81691	broad.mit.edu;ucsc.edu	37	16	20824600	20824600	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr16:20824600G>A	ENST00000261377.6	+	3	436	c.227G>A	c.(226-228)gGc>gAc	p.G76D	AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000564274.1_Missense_Mutation_p.G76D|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.G76D	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2												p.G76D(1)									GCAGTTCTGGGCAAATCCAAT	0.383																																																1	Substitution - Missense(1)	kidney(1)											67	65	66					16																	20824600		2201	4300	6501	SO:0001583	missense	81691																														ENST00000261377.6:c.227G>A	16.37:g.20824600G>A	ENSP00000261377:p.Gly76Asp			Missense_Mutation	SNP	ENST00000261377.6	37	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969240	0.74246	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.72835	-0.69;-0.45	5.56	4.6	0.57074	.	0.164767	0.53938	D	0.000049	T	0.82079	0.4959	M	0.65498	2.005	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.83404	0.0024	10	0.56958	D	0.05	-8.2324	14.4042	0.67071	0.0:0.1476:0.8524:0.0	.	76;76	Q96IC2-2;Q96IC2	.;REXON_HUMAN	D	76	ENSP00000261378:G76D;ENSP00000261377:G76D	ENSP00000261377:G76D	G	+	2	0	AC004381.6	20732101	1.000000	0.71417	0.983000	0.44433	0.976000	0.68499	5.392000	0.66272	1.325000	0.45301	0.561000	0.74099	GGC		0.383	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			A	20824600	G	A	20824600	3	1	225	1	0	0	0	0	1	0	0	0	8892	1203	42	2	233	2	LOC81691	16	20824600	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10		20824600	69530153	48	13654											
ITGAX	3687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31388553	31388553	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr16:31388553C>T	ENST00000268296.4	+	23	2877	c.2756C>T	c.(2755-2757)cCg>cTg	p.P919L	ITGAX_ENST00000562522.1_Missense_Mutation_p.P919L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	919					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.P919L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGGAGCTCCCGGTGAAGTAT	0.502																																																1	Substitution - Missense(1)	kidney(1)											108	112	110					16																	31388553		2197	4300	6497	SO:0001583	missense	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2756C>T	16.37:g.31388553C>T	ENSP00000268296:p.Pro919Leu		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694286	0.30052	.	.	ENSG00000140678	ENST00000268296	T	0.48522	0.81	4.37	3.38	0.38709	Integrin alpha-2 (1);	.	.	.	.	T	0.67618	0.2912	M	0.82193	2.58	0.25820	N	0.984298	D;D	0.89917	1.0;1.0	D;D	0.74348	0.966;0.983	T	0.57370	-0.7823	9	0.72032	D	0.01	.	9.1048	0.36692	0.0:0.8882:0.0:0.1118	.	919;104	P20702;Q8TES5	ITAX_HUMAN;.	L	919	ENSP00000268296:P919L	ENSP00000268296:P919L	P	+	2	0	ITGAX	31296054	0.256000	0.24012	0.291000	0.24904	0.013000	0.08279	2.424000	0.44714	1.123000	0.41961	0.390000	0.25778	CCG		0.502	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		T	31388553	C	T	31388553	3	4	225	1	0	0	0	0	1	0	0	0	7891	652	23	1	2846	1	ITGAX	16	31388553	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	10563953	31388553	58966200	49	13655											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11648186	11648186	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr17:11648186C>T	ENST00000262442.4	+	31	6252	c.6184C>T	c.(6184-6186)Cct>Tct	p.P2062S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2062S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2062					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P2062S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGAGGAGACCCTGACCGGCC	0.572																																																1	Substitution - Missense(1)	kidney(1)											65	58	60					17																	11648186		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6184C>T	17.37:g.11648186C>T	ENSP00000262442:p.Pro2062Ser		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710263	0.89018	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.15372	2.43;2.43	5.46	5.46	0.80206	.	1.880920	0.02181	N	0.060493	T	0.33527	0.0866	M	0.64260	1.97	0.80722	D	1	B	0.34226	0.443	B	0.38327	0.271	T	0.31888	-0.9927	10	0.44086	T	0.13	.	19.3688	0.94475	0.0:1.0:0.0:0.0	.	2062	Q9NYC9	DYH9_HUMAN	S	2062;2062;644	ENSP00000262442:P2062S;ENSP00000414874:P2062S	ENSP00000262442:P2062S	P	+	1	0	DNAH9	11588911	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.910000	0.69931	2.565000	0.86533	0.650000	0.86243	CCT		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11648186	C	T	11648186	3	4	225	1	0	0	0	0	1	0	0	0	4610	623	22	2	6306	2	DNAH9	17	11648186	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10		11648186	69547024	50	13656											
NOS2	4843	broad.mit.edu	37	17	26091141	26091141	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr17:26091141G>C	ENST00000313735.6	-	21	2691	c.2458C>G	c.(2458-2460)Ccc>Gcc	p.P820A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	820	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.P820A(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GAGCAGGGGGGCAGCCTCTTG	0.607																																																1	Substitution - Missense(1)	kidney(1)											18	21	20					17																	26091141		2203	4295	6498	SO:0001583	missense	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2458C>G	17.37:g.26091141G>C	ENSP00000327251:p.Pro820Ala		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315220	0.81358	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.65916	-0.18	5.23	4.26	0.50523	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.062767	0.64402	D	0.000005	T	0.79528	0.4461	M	0.80508	2.5	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.82806	-0.0275	10	0.87932	D	0	.	14.5569	0.68106	0.0:0.1475:0.8525:0.0	.	820	P35228	NOS2_HUMAN	A	820;781	ENSP00000327251:P820A	ENSP00000327251:P820A	P	-	1	0	NOS2	23115268	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	8.012000	0.88631	1.198000	0.43158	0.462000	0.41574	CCC		0.607	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		C	26091141	G	C	26091141	3	2	225	1	0	0	0	0	1	0	0	0	10545	1203	42	4	1031	4	NOS2	17	26091141	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	14442955	26091141	55104069	51	13657											
HOXB13	10481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46805408	46805408	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr17:46805408C>A	ENST00000290295.7	-	1	1132	c.548G>T	c.(547-549)tGt>tTt	p.C183F	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	183					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.C183F(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						TCCCTGGCAACACATCTGGCT	0.577																																																1	Substitution - Missense(1)	kidney(1)											78	72	74					17																	46805408		2203	4300	6503	SO:0001583	missense	10481			U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"Homeoboxes / ANTP class : HOXL subclass"	5112	protein-coding gene	gene with protein product		604607	"homeo box B13"			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.548G>T	17.37:g.46805408C>A	ENSP00000290295:p.Cys183Phe		B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077063	0.36662	.	.	ENSG00000159184	ENST00000290295	D	0.91124	-2.79	5.06	5.06	0.68205	.	0.054757	0.85682	D	0.000000	D	0.86335	0.5908	L	0.53249	1.67	0.45995	D	0.998802	P	0.40731	0.728	B	0.35114	0.196	D	0.86746	0.1957	10	0.56958	D	0.05	.	10.7018	0.45931	0.0:0.9132:0.0:0.0868	.	183	Q92826	HXB13_HUMAN	F	183	ENSP00000290295:C183F	ENSP00000290295:C183F	C	-	2	0	HOXB13	44160407	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.847000	0.48270	2.648000	0.89879	0.561000	0.74099	TGT		0.577	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		A	46805408	C	A	46805408	3	1	225	1	0	0	0	0	1	0	0	0	7302	478	17	4	314	4	HOXB13	17	46805408	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	20714267	46805408	34389802	52	13658											
CACNG5	27091	hgsc.bcm.edu;ucsc.edu	37	17	64873504	64873505	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr17:64873504_64873505insTG	ENST00000533854.1	+	2	291_292	c.54_55insTG	c.(55-57)tgtfs	p.C19fs	CACNG5_ENST00000307139.3_Frame_Shift_Ins_p.C19fs|CACNG5_ENST00000169565.3_Frame_Shift_Ins_p.C19fs			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	19					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TCTTTGCTGTCTGTGGCTTGGG	0.604																																																0																																										SO:0001589	frameshift_variant	27091			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.57_58dupTG	17.37:g.64873507_64873508dupTG	ENSP00000436836:p.Cys19fs		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Frame_Shift_Ins	INS	ENST00000533854.1	37	CCDS11665.1																																																																																				0.604	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		TG	64873505	-	TG	64873504	7	5	225	1	0	1	1	0	0	0	0	0	2562	900	32	0	56	0	CACNG5	17	64873504	Frame_Shift_Ins	INS	-	TCGA-B0-5709-01A-11D-1534-10	18068096	64873504	16321706	53	13659											
MYOM1	8736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	3135721	3135721	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr18:3135721G>A	ENST00000356443.4	-	15	2366	c.2033C>T	c.(2032-2034)gCa>gTa	p.A678V	MYOM1_ENST00000261606.7_Missense_Mutation_p.A678V|MYOM1_ENST00000400569.3_Missense_Mutation_p.A678V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	678	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.A678V(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCTGTTCCTGCCTCACACTG	0.512																																																1	Substitution - Missense(1)	kidney(1)											38	41	40					18																	3135721		1972	4170	6142	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2033C>T	18.37:g.3135721G>A	ENSP00000348821:p.Ala678Val		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	4.539	0.100076	0.08731	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.56275	0.47;0.47;0.47	5.76	3.96	0.45880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.394958	0.28273	N	0.015943	T	0.26846	0.0657	N	0.03084	-0.415	0.21675	N	0.999592	B;B	0.10296	0.002;0.003	B;B	0.15052	0.007;0.012	T	0.14420	-1.0473	10	0.12766	T	0.61	.	11.9356	0.52872	0.1423:0.0:0.8577:0.0	.	678;678	P52179-2;P52179	.;MYOM1_HUMAN	V	678	ENSP00000348821:A678V;ENSP00000383413:A678V;ENSP00000261606:A678V	ENSP00000261606:A678V	A	-	2	0	MYOM1	3125721	0.999000	0.42202	0.007000	0.13788	0.992000	0.81027	4.717000	0.61923	0.876000	0.35872	0.650000	0.86243	GCA		0.512	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		A	3135721	G	A	3135721	3	1	225	1	0	0	0	0	1	0	0	0	10093	1319	46	2	3120	2	MYOM1	18	3135721	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10		3135721	74941527	54	13660											
DMKN	93099	broad.mit.edu	37	19	35991482	35991482	+	Splice_Site	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr19:35991482C>T	ENST00000339686.3	-	12	1416	c.1240G>A	c.(1240-1242)Ggt>Agt	p.G414S	DMKN_ENST00000467637.1_Splice_Site_p.G139S|DMKN_ENST00000602781.1_Splice_Site_p.G127S|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000402589.2_Splice_Site_p.G127S|DMKN_ENST00000414866.2_Splice_Site_p.G127S|DMKN_ENST00000436012.1_Splice_Site_p.G110S|DMKN_ENST00000472252.2_Splice_Site_p.G61S|DMKN_ENST00000419602.1_Splice_Site_p.G403S|DMKN_ENST00000443640.1_Splice_Site_p.G177S|DMKN_ENST00000429837.1_Splice_Site_p.G373S|DMKN_ENST00000480502.1_Splice_Site_p.G108S|DMKN_ENST00000408915.2_Splice_Site_p.G28S|DMKN_ENST00000492341.2_Splice_Site_p.G61S	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	414						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G414S(1)|p.G403S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCGTCCGCACCCTGAAAGGAA	0.617																																																2	Substitution - Missense(2)	kidney(2)											70	47	55					19																	35991482		2203	4300	6503	SO:0001630	splice_region_variant	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1240-1G>A	19.37:g.35991482C>T			A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.243376|3.243376	0.58995|0.58995	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000434389|ENST00000408915;ENST00000402589;ENST00000339686;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640	.|T;T;T;T;T;T;T;T	.|0.73258	.|-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	3.96|3.96	2.9|2.9	0.33743|0.33743	.|.	0.338596|0.338596	0.21477|0.21477	N|N	0.073882|0.073882	T|T	0.78780|0.78780	0.4337|0.4337	L|L	0.59436|0.59436	1.845|1.845	0.20196|0.20196	N|N	0.999921|0.999921	.|P;P;D;D;D;D;D;D;P;P;P;P	.|0.89917	.|0.94;0.484;1.0;1.0;1.0;1.0;0.999;0.996;0.94;0.873;0.543;0.551	.|P;B;D;D;D;D;D;P;P;B;B;B	.|0.91635	.|0.51;0.241;0.999;0.998;0.998;0.998;0.962;0.848;0.51;0.318;0.125;0.134	T|T	0.67256|0.67256	-0.5716|-0.5716	6|10	.|0.87932	.|D	.|0	-2.4712|-2.4712	9.1623|9.1623	0.37030|0.37030	0.2165:0.7835:0.0:0.0|0.2165:0.7835:0.0:0.0	.|.	.|110;61;70;70;90;108;403;373;414;127;177;28	.|B4E3D1;B7ZB10;Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1;Q6E0U4-15	.|.;.;.;.;.;.;.;.;DMKN_HUMAN;.;.;.	E|S	124|28;127;414;110;127;373;403;177	.|ENSP00000386225:G28S;ENSP00000384509:G127S;ENSP00000342012:G414S;ENSP00000412075:G110S;ENSP00000392222:G127S;ENSP00000405503:G373S;ENSP00000391036:G403S;ENSP00000406864:G177S	.|ENSP00000342012:G414S	G|G	-|-	2|1	0|0	DMKN|DMKN	40683322|40683322	0.971000|0.971000	0.33674|0.33674	0.023000|0.023000	0.16930|0.16930	0.102000|0.102000	0.19082|0.19082	3.095000|3.095000	0.50235|0.50235	1.001000|1.001000	0.39076|0.39076	0.436000|0.436000	0.28706|0.28706	GGG|GGT		0.617	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	Missense_Mutation	T	35991482	C	T	35991482	5	4	225	1	0	0	0	0	0	0	1	0	4584	637	22	2	252	2	DMKN	19	35991482	Splice_Site	SNP	C	TCGA-B0-5709-01A-11D-1534-10		35991482	23137501	55	13661											
STRN4	29888	broad.mit.edu;ucsc.edu	37	19	47228597	47228597	+	Silent	SNP	C	C	G			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr19:47228597C>G	ENST00000263280.6	-	11	1513	c.1464G>C	c.(1462-1464)cgG>cgC	p.R488R	STRN4_ENST00000539396.1_Silent_p.R369R|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000391910.3_Silent_p.R495R	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	488						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.R488R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ACCTGTGAGCCCGGAAAGCAT	0.607																																																1	Substitution - coding silent(1)	kidney(1)											210	197	201					19																	47228597		2203	4300	6503	SO:0001819	synonymous_variant	29888			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1464G>C	19.37:g.47228597C>G			A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	CCDS12690.1																																																																																				0.607	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			G	47228597	C	G	47228597	2	3	225	1	0	0	0	0	0	0	0	1	15336	610	22	4		4	STRN4	19	47228597	Silent	SNP	C	TCGA-B0-5709-01A-11D-1534-10	11237115	47228597	11900386	56	13662											
ZNF765	91661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53910951	53910951	+	Splice_Site	SNP	A	A	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr19:53910951A>T	ENST00000396408.3	+	4	260	c.143A>T	c.(142-144)gAt>gTt	p.D48V	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D48V(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TACTTTTTAGATATCTCTTCC	0.338																																																1	Substitution - Missense(1)	kidney(1)											44	44	44					19																	53910951		2160	4283	6443	SO:0001630	splice_region_variant	91661			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.143-1A>T	19.37:g.53910951A>T			A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.567657	0.28003	.	.	ENSG00000196417	ENST00000396408	T	0.01871	4.59	0.998	-0.887	0.10587	Krueppel-associated box (4);	.	.	.	.	T	0.03434	0.0099	L	0.34521	1.04	0.25467	N	0.987861	P	0.49447	0.924	P	0.55749	0.783	T	0.41466	-0.9507	8	.	.	.	.	3.2847	0.06927	0.6605:0.0:0.3395:0.0	.	48	Q7L2R6	ZN765_HUMAN	V	48	ENSP00000379689:D48V	.	D	+	2	0	ZNF765	58602763	0.000000	0.05858	0.003000	0.11579	0.069000	0.16628	0.033000	0.13754	-0.469000	0.06911	0.147000	0.16070	GAT		0.338	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372	Missense_Mutation	T	53910951	A	T	53910951	5	4	225	1	0	0	0	0	0	0	1	0	18144	347	12	5	153	5	ZNF765	19	53910951	Splice_Site	SNP	A	TCGA-B0-5709-01A-11D-1534-10	6682354	53910951	5218032	57	13663											
RIN2	54453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	19977395	19977395	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr20:19977395G>A	ENST00000255006.6	+	11	2569	c.2420G>A	c.(2419-2421)cGa>cAa	p.R807Q	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.R325Q	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	758	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.R807Q(1)|p.R758Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CAAGCAGCGCGACTGCTCAGC	0.522																																																2	Substitution - Missense(2)	kidney(2)											75	85	82					20																	19977395		2044	4193	6237	SO:0001583	missense	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2420G>A	20.37:g.19977395G>A	ENSP00000255006:p.Arg807Gln		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030441	0.35797	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.25250	2.87;1.81	5.69	4.72	0.59763	Vacuolar sorting protein 9, subgroup (1);	0.423022	0.24745	N	0.035959	T	0.22399	0.0540	L	0.45228	1.405	0.22305	N	0.999218	B;B	0.21071	0.002;0.051	B;B	0.15052	0.002;0.012	T	0.11867	-1.0570	9	.	.	.	-8.5931	13.3243	0.60450	0.0794:0.0:0.9206:0.0	.	325;758	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	Q	807;325	ENSP00000255006:R807Q;ENSP00000391239:R325Q	.	R	+	2	0	RIN2	19925395	0.392000	0.25229	0.002000	0.10522	0.137000	0.21094	3.272000	0.51616	1.350000	0.45770	0.655000	0.94253	CGA		0.522	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			A	19977395	G	A	19977395	3	1	225	1	0	0	0	0	1	0	0	0	13378	1058	37	1	2311	1	RIN2	20	19977395	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10		19977395	43048125	58	13664											
DHX35	60625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37650496	37650496	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr20:37650496G>T	ENST00000252011.3	+	16	1544	c.1511G>T	c.(1510-1512)tGt>tTt	p.C504F	DHX35_ENST00000373325.2_Missense_Mutation_p.C504F|DHX35_ENST00000373323.4_Missense_Mutation_p.C473F	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	504					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.C504F(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AACTTCGGCTGTTCTCAGGAA	0.433																																																1	Substitution - Missense(1)	kidney(1)											176	175	175					20																	37650496		2203	4300	6503	SO:0001583	missense	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1511G>T	20.37:g.37650496G>T	ENSP00000252011:p.Cys504Phe		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451008	0.84209	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000373321	T;T;T	0.39229	1.09;1.09;1.09	6.07	6.07	0.98685	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	D	0.83376	0.5241	H	0.99916	4.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90811	0.4701	10	0.87932	D	0	.	20.239	0.98366	0.0:0.0:1.0:0.0	.	473;504	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	F	504;504;473;10	ENSP00000362422:C504F;ENSP00000252011:C504F;ENSP00000362420:C473F	ENSP00000252011:C504F	C	+	2	0	DHX35	37083910	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.922000	0.92789	2.884000	0.98904	0.655000	0.94253	TGT		0.433	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		T	37650496	G	T	37650496	3	4	225	1	0	0	0	0	1	0	0	0	4510	1377	48	4	1573	4	DHX35	20	37650496	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	17673101	37650496	25375024	59	13665											
ITSN1	6453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	35144369	35144369	+	Silent	SNP	G	G	C			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chr21:35144369G>C	ENST00000381318.3	+	12	1335	c.1047G>C	c.(1045-1047)acG>acC	p.T349T	ITSN1_ENST00000399338.4_Silent_p.T349T|ITSN1_ENST00000399352.1_Silent_p.T349T|ITSN1_ENST00000381285.4_Silent_p.T349T|ITSN1_ENST00000399326.3_Silent_p.T349T|ITSN1_ENST00000399355.2_Silent_p.T349T|ITSN1_ENST00000399353.1_Silent_p.T312T|ITSN1_ENST00000437442.2_Silent_p.T349T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Silent_p.T349T|ITSN1_ENST00000399367.3_Silent_p.T349T|ITSN1_ENST00000379960.5_Silent_p.T349T|ITSN1_ENST00000381291.4_Silent_p.T349T|ITSN1_ENST00000488166.1_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	349	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T349T(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTGAAGTAACGTTTGAAGATA	0.443																																																1	Substitution - coding silent(1)	kidney(1)											63	64	64					21																	35144369		2203	4300	6503	SO:0001819	synonymous_variant	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1047G>C	21.37:g.35144369G>C			A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1																																																																																				0.443	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		C	35144369	G	C	35144369	2	2	225	1	0	0	0	0	0	0	0	1	7928	1132	40	4		4	ITSN1	21	35144369	Silent	SNP	G	TCGA-B0-5709-01A-11D-1534-10		35144369	12985526	60	13666											
ACE2	59272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	15591566	15591566	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chrX:15591566C>A	ENST00000252519.3	-	11	1567	c.1465G>T	c.(1465-1467)Gaa>Taa	p.E489*	ACE2_ENST00000427411.1_Nonsense_Mutation_p.E489*			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	489					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.E489*(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GGCACAGGTTCCACCACCCCA	0.433																																																1	Substitution - Nonsense(1)	kidney(1)											155	131	139					X																	15591566		2203	4300	6503	SO:0001587	stop_gained	59272			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1465G>T	X.37:g.15591566C>A	ENSP00000252519:p.Glu489*		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Nonsense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	41	8.869535	0.98984	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.169	18.91	0.92479	0.0:1.0:0.0:0.0	.	.	.	.	X	489	.	ENSP00000252519:E489X	E	-	1	0	ACE2	15501487	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.237000	0.78164	2.413000	0.81919	0.600000	0.82982	GAA		0.433	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			A	15591566	C	A	15591566	4	1	225	1	0	0	0	0	0	1	0	0	137	864	30	4	984	4	ACE2	23	15591566	Nonsense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10		15591566	139678994	61	13667											
DDX3X	1654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	41202084	41202084	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chrX:41202084G>C	ENST00000399959.2	+	6	1393	c.538G>C	c.(538-540)Gaa>Caa	p.E180Q	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000542215.1_Missense_Mutation_p.E224Q|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.E164Q	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	180	Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.E180Q(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TCCACATATTGAAAGTGTGAG	0.378										HNSCC(61;0.18)																																						1	Substitution - Missense(1)	kidney(1)											98	84	88					X																	41202084		1927	4126	6053	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.538G>C	X.37:g.41202084G>C	ENSP00000382840:p.Glu180Gln		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049745	0.75846	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000542215	T;T;T	0.42513	2.07;2.06;0.97	5.54	5.54	0.83059	RNA helicase, DEAD-box type, Q motif (1);	0.048477	0.85682	D	0.000000	T	0.39118	0.1066	L	0.47716	1.5	0.80722	D	1	B;B;B;B;B	0.24651	0.108;0.04;0.065;0.041;0.041	B;B;B;B;B	0.23275	0.045;0.004;0.007;0.026;0.016	T	0.16100	-1.0414	10	0.20519	T	0.43	-8.0209	18.5081	0.90905	0.0:0.0:1.0:0.0	.	180;164;180;192;180	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	Q	180;164;224	ENSP00000382840:E180Q;ENSP00000392494:E164Q;ENSP00000439799:E224Q	ENSP00000382840:E180Q	E	+	1	0	DDX3X	41087028	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.313000	0.78055	0.600000	0.82982	GAA		0.378	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		C	41202084	G	C	41202084	3	2	225	1	0	0	0	0	1	0	0	0	4360	1291	45	4	560	4	DDX3X	23	41202084	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	25610518	41202084	114068476	62	13668											
DACH2	117154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	85906058	85906058	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chrX:85906058G>C	ENST00000373125.4	+	4	660	c.660G>C	c.(658-660)atG>atC	p.M220I	DACH2_ENST00000508860.1_Missense_Mutation_p.M53I|DACH2_ENST00000373131.1_Missense_Mutation_p.M207I|DACH2_ENST00000510272.1_Start_Codon_SNP_p.M1I	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	220					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M220I(1)|p.M207I(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGCAGCGATGGCTGAGGCGA	0.368																																																2	Substitution - Missense(2)	kidney(2)											75	59	64					X																	85906058		2203	4300	6503	SO:0001583	missense	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.660G>C	X.37:g.85906058G>C	ENSP00000362217:p.Met220Ile		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694737	0.48202	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.81821	-1.54;-1.53	4.69	4.69	0.59074	.	0.064313	0.64402	D	0.000007	T	0.68659	0.3025	N	0.19112	0.55	0.26410	N	0.976276	B;B;B	0.27971	0.196;0.013;0.049	B;B;B	0.27076	0.032;0.076;0.074	T	0.54912	-0.8222	10	0.19147	T	0.46	.	16.9482	0.86236	0.0:0.0:1.0:0.0	.	86;207;220	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	I	220;207;220;53;1;53	ENSP00000362223:M207I;ENSP00000362217:M220I	ENSP00000345134:M220I	M	+	3	0	DACH2	85792714	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.936000	0.75892	1.918000	0.55548	0.513000	0.50165	ATG		0.368	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		C	85906058	G	C	85906058	3	2	225	1	0	0	0	0	1	0	0	0	4223	1348	47	4	674	4	DACH2	23	85906058	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	44703974	85906058	69364502	63	13669											
IL1RAPL2	26280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	104961379	104961379	+	Silent	SNP	C	C	G			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chrX:104961379C>G	ENST00000372582.1	+	7	1548	c.792C>G	c.(790-792)ccC>ccG	p.P264P	IL1RAPL2_ENST00000344799.4_Silent_p.P264P	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	264	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.P264P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAACATCCCCTGCAAAGCAT	0.433																																																1	Substitution - coding silent(1)	kidney(1)											140	135	137					X																	104961379		2203	4300	6503	SO:0001819	synonymous_variant	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.792C>G	X.37:g.104961379C>G			Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	CCDS14517.1																																																																																				0.433	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		G	104961379	C	G	104961379	2	3	225	1	0	0	0	0	0	0	0	1	7664	668	24	4		4	IL1RAPL2	23	104961379	Silent	SNP	C	TCGA-B0-5709-01A-11D-1534-10	19055321	104961379	50309181	64	13670											
COL4A5	1287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107938641	107938641	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chrX:107938641G>A	ENST00000361603.2	+	50	5192	c.4948G>A	c.(4948-4950)Gca>Aca	p.A1650T	COL4A5_ENST00000328300.6_Missense_Mutation_p.A1656T	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1650	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.A1650T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTTTTGGCTGGCAACTGTAGA	0.453									Alport syndrome with Diffuse Leiomyomatosis																																							1	Substitution - Missense(1)	kidney(1)											122	106	111					X																	107938641		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4948G>A	X.37:g.107938641G>A	ENSP00000354505:p.Ala1650Thr		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Nonsense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893988	0.91889	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94046	-3.34;-3.34	5.44	5.44	0.79542	C-type lectin fold (1);	0.058040	0.64402	D	0.000002	D	0.93612	0.7960	N	0.25094	0.71	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	D	0.92186	0.5755	10	0.22109	T	0.4	.	18.3768	0.90438	0.0:0.0:1.0:0.0	.	1653;1650	E7EVY4;P29400	.;CO4A5_HUMAN	T	1656;1650;1656	ENSP00000331902:A1656T;ENSP00000354505:A1650T	ENSP00000331902:A1656T	A	+	1	0	COL4A5	107825297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.280000	0.76307	0.600000	0.82982	GCA		0.453	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			A	107938641	G	A	107938641	3	1	225	1	0	0	0	0	1	0	0	0	3696	1203	42	2	5157	2	COL4A5	23	107938641	Missense_Mutation	SNP	G	TCGA-B0-5709-01A-11D-1534-10	2977262	107938641	47331919	65	13671											
STAG2	10735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123197875	123197875	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chrX:123197875C>T	ENST00000371160.1	+	20	2289	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	STAG2_ENST00000371145.3_Missense_Mutation_p.R667W|STAG2_ENST00000354548.5_Missense_Mutation_p.R598W|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.R667W|STAG2_ENST00000371157.3_Missense_Mutation_p.R667W|STAG2_ENST00000371144.3_Missense_Mutation_p.R667W	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	667					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R667W(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAAATTTAACCGGCTTCTTGA	0.348																																																2	Substitution - Missense(2)	kidney(2)											37	34	35					X																	123197875		2203	4298	6501	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1999C>T	X.37:g.123197875C>T	ENSP00000360202:p.Arg667Trp		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474231	0.63737	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	5.5	2.46	0.29980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	L	0.36672	1.1	0.40359	D	0.979225	D;D	0.69078	0.997;0.995	D;P	0.63957	0.92;0.834	T	0.48768	-0.9006	10	0.72032	D	0.01	-21.5834	14.3481	0.66680	0.6187:0.3813:0.0:0.0	.	667;667	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	W	667;598;667;667;667;667	ENSP00000218089:R667W;ENSP00000346555:R598W;ENSP00000360202:R667W;ENSP00000360199:R667W;ENSP00000360187:R667W;ENSP00000360186:R667W	ENSP00000218089:R667W	R	+	1	2	STAG2	123025556	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.018000	0.30002	0.422000	0.26005	-0.222000	0.12452	CGG		0.348	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123197875	C	T	123197875	3	4	225	1	0	0	0	0	1	0	0	0	15248	643	23	1	2069	1	STAG2	23	123197875	Missense_Mutation	SNP	C	TCGA-B0-5709-01A-11D-1534-10	15259234	123197875	32072685	66	13672											
TFDP3	51270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	132351937	132351937	+	Silent	SNP	C	C	T			TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chrX:132351937C>T	ENST00000310125.4	-	1	439	c.351G>A	c.(349-351)aaG>aaA	p.K117K		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	117					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K57K(1)|p.K117K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCTCCCAGACCTTCATGGAAA	0.592																																																2	Substitution - coding silent(2)	kidney(2)											97	93	94					X																	132351937		2203	4300	6503	SO:0001819	synonymous_variant	51270			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.351G>A	X.37:g.132351937C>T			Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	CCDS14636.2																																																																																				0.592	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		T	132351937	C	T	132351937	2	4	225	1	0	0	0	0	0	0	0	1	15804	680	24	2		2	TFDP3	23	132351937	Silent	SNP	C	TCGA-B0-5709-01A-11D-1534-10	9154062	132351937	22918623	67	13673											
MAMLD1	10046	broad.mit.edu	37	X	149639327	149639327	+	Silent	SNP	G	G	A	rs374561693		TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chrX:149639327G>A	ENST00000370401.2	+	4	1792	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAMLD1_ENST00000262858.5_Silent_p.Q494Q|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_Silent_p.Q469Q|MAMLD1_ENST00000426613.2_Silent_p.Q469Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	494	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCcagcaacagcagcagcagc	0.532																																																3	Substitution - coding silent(3)	kidney(3)											42	41	41					X																	149639327		2203	4300	6503	SO:0001819	synonymous_variant	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1482G>A	X.37:g.149639327G>A			B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		A	149639327	G	A	149639327	2	1	225	1	0	0	0	0	0	0	0	1	9210	962	34	2		2	MAMLD1	23	149639327	Silent	SNP	G	TCGA-B0-5709-01A-11D-1534-10	17287390	149639327	5631233	68	13674											
CSAG1	158511	hgsc.bcm.edu;ucsc.edu	37	X	151908814	151908814	+	Frame_Shift_Del	DEL	G	G	-	rs186409993		TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chrX:151908814delG	ENST00000370287.3	+	4	381	c.53delG	c.(52-54)cggfs	p.R18fs	CSAG1_ENST00000452779.2_Frame_Shift_Del_p.R18fs|CSAG1_ENST00000370291.2_Frame_Shift_Del_p.R18fs	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	18										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAGCTCGGGGAGACCAG	0.512																																																0													184	178	180					X																	151908814		2203	4300	6503	SO:0001589	frameshift_variant	158511			AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"cancer/testis antigen family 24, member 1"					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.53delG	X.37:g.151908814delG	ENSP00000359310:p.Arg18fs		A6NE22	Frame_Shift_Del	DEL	ENST00000370287.3	37	CCDS14711.1																																																																																				0.512	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058760.2	NM_153479		-	151908814	G	-	151908814	7	5	225	1	0	1	0	1	0	0	0	0	3928	1116	39	0	59	0	CSAG1	23	151908814	Frame_Shift_Del	DEL	G	TCGA-B0-5709-01A-11D-1534-10	2269487	151908814	3361746	69	13675											
MPP1	4354	broad.mit.edu;ucsc.edu	37	X	154010064	154010064	+	Silent	SNP	C	C	A	rs147268060		TCGA-B0-5709-01A-11D-1534-10	TCGA-B0-5709-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfeaecbe-7148-4642-b69a-b908a248f328	3eddc24f-dc63-45e6-b4db-f40af3af4d35	g.chrX:154010064C>A	ENST00000369534.3	-	10	1107	c.960G>T	c.(958-960)ccG>ccT	p.P320P	MPP1_ENST00000393531.1_Silent_p.P300P|MPP1_ENST00000413259.3_Silent_p.P290P|MPP1_ENST00000462825.1_5'Flank	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	320	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.|Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.P320P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTCCTTGGCGGCCGTGTTG	0.507																																																1	Substitution - coding silent(1)	kidney(1)											181	151	161					X																	154010064		2203	4300	6503	SO:0001819	synonymous_variant	4354				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.960G>T	X.37:g.154010064C>A			B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Silent	SNP	ENST00000369534.3	37	CCDS14762.1																																																																																				0.507	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		A	154010064	C	A	154010064	2	1	225	1	0	0	0	0	0	0	0	1	9735	755	27	4		4	MPP1	23	154010064	Silent	SNP	C	TCGA-B0-5709-01A-11D-1534-10	2101250	154010064	1260496	70	13676											
RPS6KA1	6195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26897964	26897964	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr1:26897964A>T	ENST00000374168.2	+	18	1769	c.1615A>T	c.(1615-1617)Agc>Tgc	p.S539C	RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S528C|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S523C|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S447C|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S447C|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S548C	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	539	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.S548C(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCTGAAGCCCAGCAACATCCT	0.597																																																1	Substitution - Missense(1)	kidney(1)											75	68	70					1																	26897964		2203	4300	6503	SO:0001583	missense	6195			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1615A>T	1.37:g.26897964A>T	ENSP00000363283:p.Ser539Cys		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	CCDS284.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.043520	0.93685	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382;ENST00000403732	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;1.65	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	L	0.39085	1.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.977;0.981;0.995	T	0.59096	-0.7518	10	0.87932	D	0	.	15.6863	0.77411	1.0:0.0:0.0:0.0	.	523;548;539	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	C	539;528;447;447;523;217;548;155	ENSP00000363283:S539C;ENSP00000363281:S528C;ENSP00000431651:S447C;ENSP00000363277:S447C;ENSP00000432281:S523C;ENSP00000435412:S548C;ENSP00000383967:S155C	ENSP00000363277:S447C	S	+	1	0	RPS6KA1	26770551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.094000	0.63399	0.460000	0.39030	AGC		0.597	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		T	26897964	A	T	26897964	3	4	226	1	0	0	0	0	1	0	0	0	13656	188	7	5	1824	5	RPS6KA1	1	26897964	Missense_Mutation	SNP	A	TCGA-B0-5710-01A-11D-1669-08		26897964	222352657	1	13677											
DIO1	1733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54370442	54370442	+	Silent	SNP	A	A	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr1:54370442A>G	ENST00000361921.3	+	2	465	c.441A>G	c.(439-441)gcA>gcG	p.A147A	DIO1_ENST00000322679.6_Silent_p.A147A|DIO1_ENST00000524406.1_Silent_p.A18A|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Silent_p.A83A|DIO1_ENST00000388876.3_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	147					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)	p.A147A(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GTTCCATAGCAGATTTTCTTG	0.398																																																1	Substitution - coding silent(1)	kidney(1)											199	178	185					1																	54370442		1894	4128	6022	SO:0001819	synonymous_variant	1733				CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.441A>G	1.37:g.54370442A>G			Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Silent	SNP	ENST00000361921.3	37	CCDS41339.1																																																																																				0.398	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			G	54370442	A	G	54370442	2	3	226	1	0	0	0	0	0	0	0	1	4526	175	7	3		3	DIO1	1	54370442	Silent	SNP	A	TCGA-B0-5710-01A-11D-1669-08	27472478	54370442	194880179	2	13678											
RABGGTB	5876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	76255648	76255648	+	Silent	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr1:76255648G>A	ENST00000319942.3	+	4	392	c.321G>A	c.(319-321)ctG>ctA	p.L107L	RABGGTB_ENST00000496055.1_3'UTR|SNORD45A_ENST00000384512.1_RNA|SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000370826.3_Silent_p.L107L|RABGGTB_ENST00000535300.1_5'UTR|SNORD45C_ENST00000383893.1_RNA	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	107					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.L107L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TTCTTACGCTGTATGACAGTA	0.328																																																1	Substitution - coding silent(1)	kidney(1)											152	152	152					1																	76255648		2203	4299	6502	SO:0001819	synonymous_variant	5876			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.321G>A	1.37:g.76255648G>A			Q92697	Silent	SNP	ENST00000319942.3	37	CCDS669.1																																																																																				0.328	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		A	76255648	G	A	76255648	2	1	226	1	0	0	0	0	0	0	0	1	12974	1364	48	2		2	RABGGTB	1	76255648	Silent	SNP	G	TCGA-B0-5710-01A-11D-1669-08	21885206	76255648	172994973	3	13679											
NUP210L	91181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154112289	154112289	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr1:154112289G>A	ENST00000368559.3	-	5	777	c.706C>T	c.(706-708)Cca>Tca	p.P236S	NUP210L_ENST00000271854.3_Missense_Mutation_p.P236S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	236					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.P236S(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTATAGAATGGTTCATGAATT	0.353																																																1	Substitution - Missense(1)	kidney(1)											228	224	226					1																	154112289		1839	4092	5931	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.706C>T	1.37:g.154112289G>A	ENSP00000357547:p.Pro236Ser		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	8.244	0.807500	0.16467	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06449	3.55;3.3	5.11	2.14	0.27477	.	0.574451	0.16915	N	0.194359	T	0.01627	0.0052	L	0.36672	1.1	0.26977	N	0.965452	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.45775	-0.9238	10	0.36615	T	0.2	-12.8997	6.677	0.23100	0.3231:0.0:0.6769:0.0	.	236;236	E7EP56;Q5VU65	.;P210L_HUMAN	S	236	ENSP00000357547:P236S;ENSP00000271854:P236S	ENSP00000271854:P236S	P	-	1	0	NUP210L	152378913	0.456000	0.25744	0.957000	0.39632	0.981000	0.71138	0.323000	0.19593	0.279000	0.22186	0.561000	0.74099	CCA		0.353	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		A	154112289	G	A	154112289	3	1	226	1	0	0	0	0	1	0	0	0	10763	1261	44	2	5104	2	NUP210L	1	154112289	Missense_Mutation	SNP	G	TCGA-B0-5710-01A-11D-1669-08	77856641	154112289	95138332	4	13680											
LPIN1	23175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11911638	11911638	+	Missense_Mutation	SNP	C	C	A	rs145629147	byFrequency	TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr2:11911638C>A	ENST00000256720.2	+	4	522	c.429C>A	c.(427-429)agC>agA	p.S143R	LPIN1_ENST00000425416.2_Missense_Mutation_p.S149R|LPIN1_ENST00000396099.1_Missense_Mutation_p.S149R|LPIN1_ENST00000449576.2_Missense_Mutation_p.S192R|LPIN1_ENST00000396098.1_Missense_Mutation_p.S149R	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	143					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.S143R(1)|p.S143S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCGCTCCCAGCGAGACGCCGT	0.537																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)											54	52	53					2																	11911638		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.429C>A	2.37:g.11911638C>A	ENSP00000256720:p.Ser143Arg		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	c	6.356	0.433695	0.12045	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	T;D;T;T;T	0.88509	-1.39;-2.39;-1.38;-1.4;-1.4	5.8	-11.6	0.00059	.	0.318920	0.39544	N	0.001335	T	0.75781	0.3896	L	0.36672	1.1	0.21020	N	0.999806	P;B;P	0.35272	0.485;0.282;0.493	B;B;B	0.36766	0.189;0.109;0.232	T	0.65014	-0.6271	10	0.11182	T	0.66	-1.4683	11.6954	0.51540	0.0656:0.1749:0.0655:0.6941	.	192;143;149	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	R	192;149;149;149;143	ENSP00000397908:S192R;ENSP00000379405:S149R;ENSP00000379406:S149R;ENSP00000401522:S149R;ENSP00000256720:S143R	ENSP00000256720:S143R	S	+	3	2	LPIN1	11829089	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.250000	0.01187	-3.730000	0.00114	-2.899000	0.00093	AGC		0.537	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		A	11911638	C	A	11911638	3	1	226	1	0	0	0	0	1	0	0	0	8920	767	27	4	439	4	LPIN1	2	11911638	Missense_Mutation	SNP	C	TCGA-B0-5710-01A-11D-1669-08		11911638	231287735	5	13681											
ITSN2	50618	hgsc.bcm.edu;ucsc.edu	37	2	24435521	24435521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr2:24435521delT	ENST00000355123.4	-	33	4530	c.4087delA	c.(4087-4089)agtfs	p.S1363fs	ITSN2_ENST00000361999.3_Frame_Shift_Del_p.S1336fs|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000430105.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1363	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACTCACACTTCTGATGAGC	0.607																																																0													120	116	117					2																	24435521		2203	4300	6503	SO:0001589	frameshift_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4087delA	2.37:g.24435521delT	ENSP00000347244:p.Ser1363fs		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Del	DEL	ENST00000355123.4	37	CCDS1710.2																																																																																				0.607	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		-	24435521	T	-	24435521	7	5	226	1	0	1	0	1	0	0	0	0	7929	1609	56	0	1038	0	ITSN2	2	24435521	Frame_Shift_Del	DEL	T	TCGA-B0-5710-01A-11D-1669-08	12523883	24435521	218763852	6	13682											
SLC5A7	60482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	108627273	108627273	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr2:108627273G>A	ENST00000264047.2	+	9	1975	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	SLC5A7_ENST00000540517.1_Missense_Mutation_p.D462N|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D567N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	567					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.D567N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCTTGATGTTGATTCCAGTCC	0.393																																																1	Substitution - Missense(1)	kidney(1)											36	37	37					2																	108627273		2203	4297	6500	SO:0001583	missense	60482			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1699G>A	2.37:g.108627273G>A	ENSP00000264047:p.Asp567Asn		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403486	0.42613	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.92545	-2.8;-3.06;-2.8	5.84	2.94	0.34122	.	0.507264	0.23616	N	0.046294	D	0.85902	0.5805	L	0.33485	1.01	0.24587	N	0.993842	B	0.02656	0.0	B	0.01281	0.0	T	0.78221	-0.2288	10	0.52906	T	0.07	-11.7136	9.7756	0.40616	0.133:0.1181:0.7489:0.0	.	567	Q9GZV3	SC5A7_HUMAN	N	567;462;567	ENSP00000387346:D567N;ENSP00000445351:D462N;ENSP00000264047:D567N	ENSP00000264047:D567N	D	+	1	0	SLC5A7	107993705	1.000000	0.71417	0.038000	0.18304	0.794000	0.44872	4.425000	0.59875	1.471000	0.48121	0.650000	0.86243	GAT		0.393	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			A	108627273	G	A	108627273	3	1	226	1	0	0	0	0	1	0	0	0	14676	1290	45	2	1729	2	SLC5A7	2	108627273	Missense_Mutation	SNP	G	TCGA-B0-5710-01A-11D-1669-08	84191752	108627273	134572100	7	13683											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179605552	179605552	+	Silent	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr2:179605552G>A	ENST00000591111.1	-	46	11681	c.11457C>T	c.(11455-11457)ggC>ggT	p.G3819G	TTN_ENST00000460472.2_Silent_p.G3773G|TTN_ENST00000359218.5_Silent_p.G3898G|TTN_ENST00000342175.6_Silent_p.G3965G|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Silent_p.G4136G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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)	p.G3898G(1)		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)			AGTGAATACTGCCATTGATGC	0.463																																																1	Substitution - coding silent(1)	kidney(1)											165	161	162					2																	179605552		1945	4138	6083	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11457C>T	2.37:g.179605552G>A			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179605552	G	A	179605552	2	1	226	1	0	0	0	0	0	0	0	1	16740	1306	46	2		2	TTN	2	179605552	Silent	SNP	G	TCGA-B0-5710-01A-11D-1669-08	70978279	179605552	63593821	8	13684											
VHL	7428	hgsc.bcm.edu	37	3	10183767	10183767	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr3:10183767G>C	ENST00000256474.2	+	1	1076	c.236G>C	c.(235-237)cGc>cCc	p.R79P	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.R79P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	79			R -> P (in VHLD).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S72_V87>L(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.R79P(1)|p.C77_R79del(1)|p.R79H(1)|p.N78fs*80(1)|p.V74fs*77(1)|p.R79_P81>P(1)|p.F76fs*81(1)|p.R79fs*52(1)|p.N78fs*50(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTCTGCAATCGCAGTCCGCGC	0.711		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Deletion - Frameshift(6)|Substitution - Missense(2)|Complex - deletion inframe(2)|Complex - frameshift(1)|Deletion - In frame(1)	kidney(12)	GRCh37	CM941366	VHL	M							12	15	14					3																	10183767		2175	4236	6411	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.236G>C	3.37:g.10183767G>C	ENSP00000256474:p.Arg79Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146045	0.94603	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99833	-7.03;-7.03	5.43	4.56	0.56223	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.221156	0.48286	D	0.000186	D	0.99684	0.9881	M	0.65498	2.005	0.26769	N	0.969848	D;D	0.76494	0.997;0.999	P;D	0.72338	0.906;0.977	D	0.99050	1.0827	10	0.59425	D	0.04	-11.3454	12.3184	0.54971	0.0825:0.0:0.9174:0.0	.	79;79	P40337-2;P40337	.;VHL_HUMAN	P	79	ENSP00000256474:R79P;ENSP00000344757:R79P	ENSP00000256474:R79P	R	+	2	0	VHL	10158767	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.892000	0.39748	1.300000	0.44818	0.550000	0.68814	CGC		0.711	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10183767	G	C	10183767	3	2	226	1	0	0	0	0	1	0	0	0	17167	1087	38	4	238	4	VHL	3	10183767	Missense_Mutation	SNP	G	TCGA-B0-5710-01A-11D-1669-08		10183767	187838663	9	13685											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643654	52643654	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr3:52643654delC	ENST00000296302.7	-	16	2243	c.2242delG	c.(2242-2244)gatfs	p.D748fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.D716fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.D763fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.D748fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.D763fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.D748fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.D748fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.D748fs			Q86U86	PB1_HUMAN	polybromo 1	748					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K747fs*23(2)|p.K715fs*23(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACAAGAGCATCTTTGTAGATC	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Deletion - Frameshift(3)	kidney(3)											111	109	110					3																	52643654		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2242delG	3.37:g.52643654delC	ENSP00000296302:p.Asp748fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52643654	C	-	52643654	7	5	226	1	0	1	0	1	0	0	0	0	11493	913	32	0	2718	0	PBRM1	3	52643654	Frame_Shift_Del	DEL	C	TCGA-B0-5710-01A-11D-1669-08	42459887	52643654	145378776	10	13686											
CD96	10225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	111343188	111343188	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr3:111343188T>A	ENST00000283285.5	+	11	1437	c.1306T>A	c.(1306-1308)Tcc>Acc	p.S436T	CD96_ENST00000352690.4_Missense_Mutation_p.S420T	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	436	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S436T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGCCAGCAATTCCAGTATGAC	0.398									Opitz Trigonocephaly syndrome																																							1	Substitution - Missense(1)	kidney(1)											101	100	101					3																	111343188		2203	4299	6502	SO:0001583	missense	10225	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1306T>A	3.37:g.111343188T>A	ENSP00000283285:p.Ser436Thr		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	T	7.638	0.680318	0.14907	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.66638	-0.21;-0.22	4.19	2.99	0.34606	.	0.506646	0.20873	N	0.084131	T	0.50411	0.1614	L	0.29908	0.895	0.19945	N	0.99994	P;P;P	0.40731	0.608;0.728;0.608	B;B;B	0.39339	0.156;0.297;0.156	T	0.35847	-0.9772	10	0.33940	T	0.23	-1.451	7.7096	0.28669	0.0:0.0:0.2145:0.7855	.	420;420;436	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	T	420;436	ENSP00000342040:S420T;ENSP00000283285:S436T	ENSP00000283285:S436T	S	+	1	0	CD96	112825878	0.944000	0.32072	0.158000	0.22627	0.017000	0.09413	1.636000	0.37144	0.916000	0.36871	0.460000	0.39030	TCC		0.398	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			A	111343188	T	A	111343188	3	1	226	1	0	0	0	0	1	0	0	0	3050	1783	62	5	1348	5	CD96	3	111343188	Missense_Mutation	SNP	T	TCGA-B0-5710-01A-11D-1669-08	58699534	111343188	86679242	11	13687											
ACAP2	23527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	195066024	195066024	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr3:195066024C>A	ENST00000326793.6	-	5	538	c.308G>T	c.(307-309)aGa>aTa	p.R103I		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	103	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R103I(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CTTAATTGATCTCTGAGTTTG	0.294																																																1	Substitution - Missense(1)	kidney(1)											67	66	67					3																	195066024		2202	4296	6498	SO:0001583	missense	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.308G>T	3.37:g.195066024C>A	ENSP00000324287:p.Arg103Ile		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.161589|4.161589	0.78226|0.78226	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000423531|ENST00000326793	.|T	.|0.00514	.|6.88	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.02156|0.02156	0.0067|0.0067	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.56498|0.56498	-0.7969|-0.7969	5|10	.|0.66056	.|D	.|0.02	.|.	18.651|18.651	0.91430|0.91430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|103	.|Q15057	.|ACAP2_HUMAN	D|I	56|103	.|ENSP00000324287:R103I	.|ENSP00000324287:R103I	E|R	-|-	3|2	2|0	ACAP2|ACAP2	196547313|196547313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.159000|7.159000	0.77483|0.77483	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.294	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		A	195066024	C	A	195066024	3	1	226	1	0	0	0	0	1	0	0	0	119	913	32	4	2104	4	ACAP2	3	195066024	Missense_Mutation	SNP	C	TCGA-B0-5710-01A-11D-1669-08	83722836	195066024	2956406	12	13688											
RAB24	53917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176728945	176728945	+	Silent	SNP	A	A	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr5:176728945A>G	ENST00000303251.6	-	7	947	c.528T>C	c.(526-528)gcT>gcC	p.A176A	RAB24_ENST00000303270.6_Silent_p.A147A|RAB24_ENST00000393611.2_Silent_p.A176A|PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	176					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.A176A(1)				all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGGAAGGCAGCCACACTGA	0.547																																																1	Substitution - coding silent(1)	kidney(1)											118	117	117					5																	176728945		2203	4300	6503	SO:0001819	synonymous_variant	53917			AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"RAB, member RAS oncogene"	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.528T>C	5.37:g.176728945A>G			Q7Z4Z7	Silent	SNP	ENST00000303251.6	37	CCDS34300.1																																																																																				0.547	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781		G	176728945	A	G	176728945	2	3	226	1	0	0	0	0	0	0	0	1	12917	175	7	3		3	RAB24	5	176728945	Silent	SNP	A	TCGA-B0-5710-01A-11D-1669-08		176728945	4186315	13	13689											
TFAP2A	7020	hgsc.bcm.edu	37	6	10410466	10410467	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr6:10410466_10410467insG	ENST00000482890.1	-	3	499_500	c.147_148insC	c.(145-150)cccaatfs	p.N50fs	TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000379613.3_Frame_Shift_Ins_p.N52fs|TFAP2A_ENST00000379608.3_Frame_Shift_Ins_p.N44fs|TFAP2A_ENST00000497266.1_Intron|TFAP2A_ENST00000379604.2_Frame_Shift_Ins_p.N50fs|TFAP2A_ENST00000319516.4_Frame_Shift_Ins_p.N46fs			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	50	Gln/Pro-rich (transactivation domain).				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AAGTCGGCATTGGGGGTGTGGG	0.639																																																0																																										SO:0001589	frameshift_variant	7020			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.148dupC	6.37:g.10410471_10410471dupG	ENSP00000418541:p.Asn50fs		Q13777|Q5TAV5|Q8N1C6	Frame_Shift_Ins	INS	ENST00000482890.1	37	CCDS4510.1																																																																																				0.639	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		G	10410467	-	G	10410466	7	5	226	1	0	1	1	0	0	0	0	0	15792	1812	63	0	1189	0	TFAP2A	6	10410466	Frame_Shift_Ins	INS	-	TCGA-B0-5710-01A-11D-1669-08		10410466	160704601	14	13690											
SERINC1	57515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	122768141	122768141	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr6:122768141G>C	ENST00000339697.4	-	9	1088	c.1004C>G	c.(1003-1005)aCt>aGt	p.T335S		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	335					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.T335S(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		ATTGTTTGAAGTACGGATGCT	0.338																																																1	Substitution - Missense(1)	kidney(1)											68	66	67					6																	122768141		2203	4300	6503	SO:0001583	missense	57515			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1004C>G	6.37:g.122768141G>C	ENSP00000342962:p.Thr335Ser		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	G	3.463	-0.109523	0.06924	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.13778	2.56;2.56	5.4	5.4	0.78164	.	0.151032	0.56097	D	0.000023	T	0.03136	0.0092	N	0.10809	0.05	0.37810	D	0.928018	B	0.02656	0.0	B	0.20955	0.032	T	0.23583	-1.0184	10	0.06757	T	0.87	-22.3587	19.1687	0.93569	0.0:0.0:1.0:0.0	.	335	Q9NRX5	SERC1_HUMAN	S	335	ENSP00000342962:T335S;ENSP00000357439:T335S	ENSP00000342962:T335S	T	-	2	0	SERINC1	122809840	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.845000	0.69437	2.532000	0.85374	0.650000	0.86243	ACT		0.338	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		C	122768141	G	C	122768141	3	2	226	1	0	0	0	0	1	0	0	0	14085	1029	36	4	365	4	SERINC1	6	122768141	Missense_Mutation	SNP	G	TCGA-B0-5710-01A-11D-1669-08	112357675	122768141	48346926	15	13691											
LATS1	9113	broad.mit.edu;ucsc.edu	37	6	150023180	150023180	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr6:150023180C>T	ENST00000543571.1	-	2	630	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	LATS1_ENST00000253339.5_Missense_Mutation_p.R28Q|LATS1_ENST00000542747.1_5'Flank|LATS1_ENST00000392273.3_Missense_Mutation_p.R28Q	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R28Q(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TAACATTTGCCGGCTACTGAC	0.393																																																2	Substitution - Missense(2)	kidney(2)											133	132	133					6																	150023180		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.83G>A	6.37:g.150023180C>T	ENSP00000437550:p.Arg28Gln			Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241688	0.39598	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.29655	1.56;1.56;1.56	5.33	5.33	0.75918	.	0.131843	0.33438	N	0.004905	T	0.07548	0.0190	N	0.13098	0.295	0.30261	N	0.793184	B;B	0.23891	0.093;0.002	B;B	0.12837	0.008;0.001	T	0.13415	-1.0510	9	.	.	.	.	12.9149	0.58200	0.0:0.916:0.0:0.084	.	28;28	O95835-2;O95835	.;LATS1_HUMAN	Q	28	ENSP00000437550:R28Q;ENSP00000253339:R28Q;ENSP00000444678:R28Q	.	R	-	2	0	LATS1	150064873	1.000000	0.71417	0.982000	0.44146	0.688000	0.40055	4.518000	0.60510	2.774000	0.95407	0.491000	0.48974	CGG		0.393	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		T	150023180	C	T	150023180	3	4	226	1	0	0	0	0	1	0	0	0	8648	652	23	1	3337	1	LATS1	6	150023180	Missense_Mutation	SNP	C	TCGA-B0-5710-01A-11D-1669-08	27255039	150023180	21091887	16	13692											
CLDN4	1364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	73245666	73245666	+	Silent	SNP	C	C	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr7:73245666C>T	ENST00000435050.1	+	2	2815	c.135C>T	c.(133-135)acC>acT	p.T45T	CLDN4_ENST00000431918.1_Silent_p.T45T|CLDN4_ENST00000340958.2_Silent_p.T45T			O14493	CLD4_HUMAN	claudin 4	45	Interaction with EPHA2.				calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)	p.T45T(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				CCTCGCAGACCATCTGGGAGG	0.657																																																1	Substitution - coding silent(1)	kidney(1)											81	66	71					7																	73245666		2203	4300	6503	SO:0001819	synonymous_variant	1364			AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"Claudins"	2046	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 1", "Williams-Beuren syndrome chromosomal region 8 protein"	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.135C>T	7.37:g.73245666C>T				Silent	SNP	ENST00000435050.1	37	CCDS5560.1																																																																																				0.657	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1	NM_001305		T	73245666	C	T	73245666	2	4	226	1	0	0	0	0	0	0	0	1	3489	581	21	2		2	CLDN4	7	73245666	Silent	SNP	C	TCGA-B0-5710-01A-11D-1669-08		73245666	85892997	17	13693											
MYST3	7994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	41804117	41804117	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr8:41804117A>G	ENST00000396930.3	-	13	2531	c.1988T>C	c.(1987-1989)aTc>aCc	p.I663T	KAT6A_ENST00000265713.2_Missense_Mutation_p.I663T|KAT6A_ENST00000485568.1_Missense_Mutation_p.I663T|KAT6A_ENST00000406337.1_Missense_Mutation_p.I663T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	663	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I663T(1)									ACTGAAATCGATGAGAAACCT	0.423																																																1	Substitution - Missense(1)	kidney(1)											139	124	129					8																	41804117		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1988T>C	8.37:g.41804117A>G	ENSP00000380136:p.Ile663Thr		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399510	0.42512	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.91351	-0.82;-0.82;-0.82;-2.83	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	1.0;1.0	D	0.97142	0.9825	10	0.87932	D	0	-20.4327	16.2268	0.82300	1.0:0.0:0.0:0.0	.	663;663	A5PLL3;Q92794	.;KAT6A_HUMAN	T	663;663;663;243;663	ENSP00000265713:I663T;ENSP00000385888:I663T;ENSP00000380136:I663T;ENSP00000430606:I663T	ENSP00000265713:I663T	I	-	2	0	KAT6A	41923274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.235000	0.73313	0.528000	0.53228	ATC		0.423	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		G	41804117	A	G	41804117	3	3	226	1	0	0	0	0	1	0	0	0	10106	333	12	3	4050	3	MYST3	8	41804117	Missense_Mutation	SNP	A	TCGA-B0-5710-01A-11D-1669-08		41804117	104559905	18	13694											
PRUNE2	158471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79461509	79461509	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr9:79461509A>G	ENST00000376718.3	-	4	553	c.430T>C	c.(430-432)Tcc>Ccc	p.S144P	PRUNE2_ENST00000376713.3_Missense_Mutation_p.S144P|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	144					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.S144P(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGAGAAGAGGAAGACTCTCGG	0.478																																																2	Substitution - Missense(2)	kidney(2)											108	105	106					9																	79461509		2203	4300	6503	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.430T>C	9.37:g.79461509A>G	ENSP00000365908:p.Ser144Pro		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041782	0.75732	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.15718	2.4;2.4	5.81	5.81	0.92471	.	0.061984	0.64402	D	0.000006	T	0.36026	0.0952	L	0.60455	1.87	0.80722	D	1	D;P	0.89917	1.0;0.93	D;P	0.69307	0.963;0.543	T	0.08452	-1.0721	10	0.87932	D	0	.	11.8635	0.52480	0.8693:0.0:0.0:0.1307	.	144;144	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	P	144;143;144	ENSP00000365908:S144P;ENSP00000365903:S144P	ENSP00000365903:S144P	S	-	1	0	PRUNE2	78651329	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.860000	0.62961	2.217000	0.71921	0.533000	0.62120	TCC		0.478	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		G	79461509	A	G	79461509	3	3	226	1	0	0	0	0	1	0	0	0	12646	246	9	3	8900	3	PRUNE2	9	79461509	Missense_Mutation	SNP	A	TCGA-B0-5710-01A-11D-1669-08		79461509	61751922	19	13695											
MYO3A	53904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26313006	26313006	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr10:26313006T>G	ENST00000265944.5	+	9	953	c.787T>G	c.(787-789)Ttc>Gtc	p.F263V	MYO3A_ENST00000543632.1_Missense_Mutation_p.F263V	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F263V(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTCAATGACTTCATAAGCAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											119	120	120					10																	26313006		2203	4300	6503	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.787T>G	10.37:g.26313006T>G	ENSP00000265944:p.Phe263Val		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.891031	0.91889	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;T	0.16073	2.37;2.37	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042837	0.85682	D	0.000000	T	0.38348	0.1037	L	0.52011	1.625	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.996;0.997;0.994	T	0.08106	-1.0738	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	263;263;263	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	V	263	ENSP00000265944:F263V;ENSP00000445909:F263V	ENSP00000265944:F263V	F	+	1	0	MYO3A	26353012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.187000	0.77730	2.304000	0.77564	0.528000	0.53228	TTC		0.368	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		G	26313006	T	G	26313006	3	3	226	1	0	0	0	0	1	0	0	0	10078	1609	56	5	813	5	MYO3A	10	26313006	Missense_Mutation	SNP	T	TCGA-B0-5710-01A-11D-1669-08		26313006	109221741	20	13696											
ANKRD22	118932	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	90591656	90591656	+	Missense_Mutation	SNP	C	C	A	rs143516492		TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr10:90591656C>A	ENST00000371930.4	-	2	359	c.149G>T	c.(148-150)cGa>cTa	p.R50L		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	50								p.R50L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		CACATGCCCTCGCCTGCAAGC	0.468																																																1	Substitution - Missense(1)	kidney(1)											240	224	229					10																	90591656		2203	4300	6503	SO:0001583	missense	118932			BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"Ankyrin repeat domain containing"	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.149G>T	10.37:g.90591656C>A	ENSP00000360998:p.Arg50Leu		B2R9Y7|Q8WU06	Missense_Mutation	SNP	ENST00000371930.4	37	CCDS7390.1	.	.	.	.	.	.	.	.	.	.	C	1.248	-0.619409	0.03663	.	.	ENSG00000152766	ENST00000371930	T	0.64085	-0.08	5.33	4.43	0.53597	Ankyrin repeat-containing domain (4);	0.184558	0.47852	N	0.000203	T	0.45377	0.1339	L	0.35793	1.09	0.42323	D	0.992263	B	0.06786	0.001	B	0.12837	0.008	T	0.27571	-1.0070	10	0.11182	T	0.66	-5.1368	6.8772	0.24153	0.1763:0.736:0.0:0.0878	.	50	Q5VYY1	ANR22_HUMAN	L	50	ENSP00000360998:R50L	ENSP00000360998:R50L	R	-	2	0	ANKRD22	90581636	0.139000	0.22563	0.380000	0.26093	0.065000	0.16274	1.569000	0.36428	1.257000	0.44085	0.561000	0.74099	CGA		0.468	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1	NM_144590		A	90591656	C	A	90591656	3	1	226	1	0	0	0	0	1	0	0	0	651	884	31	4	446	4	ANKRD22	10	90591656	Missense_Mutation	SNP	C	TCGA-B0-5710-01A-11D-1669-08	64278650	90591656	44943091	21	13697											
UBQLN3	50613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5528857	5528857	+	Silent	SNP	G	G	A	rs560557342		TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr11:5528857G>A	ENST00000311659.4	-	2	2079	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D	HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	644	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.							p.D644D(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCATCCACGTCGCCCCCCG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19131	0.001		0.0	False		,,,				2504	0.0				Ovarian(72;684 1260 12332 41642 52180)											1	Substitution - coding silent(1)	kidney(1)											85	87	86					11																	5528857		2201	4297	6498	SO:0001819	synonymous_variant	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1932C>T	11.37:g.5528857G>A			Q9NRE0	Silent	SNP	ENST00000311659.4	37	CCDS7758.1																																																																																				0.527	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		A	5528857	G	A	5528857	2	1	226	1	0	0	0	0	0	0	0	1	16903	1136	40	1		1	UBQLN3	11	5528857	Silent	SNP	G	TCGA-B0-5710-01A-11D-1669-08		5528857	129477659	22	13698											
DAGLA	747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61511889	61511889	+	Silent	SNP	C	C	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr11:61511889C>T	ENST00000257215.5	+	20	3173	c.3057C>T	c.(3055-3057)atC>atT	p.I1019I	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	1019					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.I1019I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGACAAGATCCGGACTTCTA	0.662																																																1	Substitution - coding silent(1)	kidney(1)											33	36	35					11																	61511889		2202	4297	6499	SO:0001819	synonymous_variant	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.3057C>T	11.37:g.61511889C>T			A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	CCDS31578.1																																																																																				0.662	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		T	61511889	C	T	61511889	2	4	226	1	0	0	0	0	0	0	0	1	4228	845	30	2		2	DAGLA	11	61511889	Silent	SNP	C	TCGA-B0-5710-01A-11D-1669-08	55983032	61511889	73494627	23	13699											
C11orf9	745	broad.mit.edu;ucsc.edu	37	11	61543864	61543864	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr11:61543864A>G	ENST00000278836.5	+	10	1555	c.1459A>G	c.(1459-1461)Aac>Gac	p.N487D	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.N478D|MYRF_ENST00000389602.4_5'Flank|MYRF_ENST00000327797.1_Missense_Mutation_p.N112D	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	487					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N478D(1)									GACCACCGCTAACAACATGCG	0.647											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											25	26	26					11																	61543864		2202	4299	6501	SO:0001583	missense	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1459A>G	11.37:g.61543864A>G	ENSP00000278836:p.Asn487Asp	1054	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003684	0.93287	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.80909	-1.43;-1.36;-1.32	4.57	4.57	0.56435	NDT80 DNA-binding domain (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91825	0.7413	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.93889	0.7178	10	0.87932	D	0	-21.4328	14.2358	0.65925	1.0:0.0:0.0:0.0	.	478;487	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	D	487;478;112	ENSP00000278836:N487D;ENSP00000265460:N478D;ENSP00000333261:N112D	ENSP00000265460:N478D	N	+	1	0	C11orf9	61300440	1.000000	0.71417	0.986000	0.45419	0.950000	0.60333	8.906000	0.92626	1.838000	0.53458	0.374000	0.22700	AAC		0.647	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		G	61543864	A	G	61543864	3	3	226	1	0	0	0	0	1	0	0	0	1673	362	13	3	1520	3	C11orf9	11	61543864	Missense_Mutation	SNP	A	TCGA-B0-5710-01A-11D-1669-08	31975	61543864	73462652	24	13700											
NCAPD2	9918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6619242	6619242	+	Splice_Site	SNP	C	C	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr12:6619242C>A	ENST00000315579.5	+	4	1004	c.205C>A	c.(205-207)Cac>Aac	p.H69N	SCARNA10_ENST00000459255.1_RNA|NCAPD2_ENST00000545962.1_Intron	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	69	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.H69N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCTCATAGTCACTTTCGAAG	0.448																																																1	Substitution - Missense(1)	kidney(1)											86	78	80					12																	6619242		2203	4300	6503	SO:0001630	splice_region_variant	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.204-1C>A	12.37:g.6619242C>A			D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.486829	0.44249	.	.	ENSG00000010292	ENST00000315579;ENST00000539714	T;T	0.45668	2.49;0.89	5.32	5.32	0.75619	.	0.042989	0.85682	D	0.000000	T	0.41396	0.1157	L	0.61036	1.89	0.80722	D	1	B	0.30686	0.29	B	0.32624	0.149	T	0.22800	-1.0206	10	0.25751	T	0.34	-22.4334	13.0674	0.59041	0.1603:0.8397:0.0:0.0	.	69	Q15021	CND1_HUMAN	N	69	ENSP00000325017:H69N;ENSP00000444377:H69N	ENSP00000325017:H69N	H	+	1	0	NCAPD2	6489503	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.397000	0.44477	2.492000	0.84095	0.555000	0.69702	CAC		0.448	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865	Missense_Mutation	A	6619242	C	A	6619242	5	1	226	1	0	0	0	0	0	0	1	0	10207	840	29	4	215	4	NCAPD2	12	6619242	Splice_Site	SNP	C	TCGA-B0-5710-01A-11D-1669-08		6619242	127232653	25	13701											
SLCO1B3	28234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21008017	21008017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr12:21008017delT	ENST00000381545.3	+	4	359	c.140delT	c.(139-141)attfs	p.I47fs	SLCO1B7_ENST00000554957.1_Frame_Shift_Del_p.I47fs|LST3_ENST00000381541.3_Frame_Shift_Del_p.I47fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.I47fs|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.I47fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.I47fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	47					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	GGTGGAATCATTATGAAAATT	0.318																																																0													87	82	83					12																	21008017		2203	4299	6502	SO:0001589	frameshift_variant	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.140delT	12.37:g.21008017delT	ENSP00000370956:p.Ile47fs		E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	CCDS8684.1																																																																																				0.318	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		-	21008017	T	-	21008017	7	5	226	1	0	1	0	1	0	0	0	0	14730	1493	52	0	146	0	SLCO1B3	12	21008017	Frame_Shift_Del	DEL	T	TCGA-B0-5710-01A-11D-1669-08	14388775	21008017	112843878	26	13702											
DNAH10	196385	broad.mit.edu;ucsc.edu	37	12	124383326	124383326	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr12:124383326C>A	ENST00000409039.3	+	55	9276	c.9251C>A	c.(9250-9252)gCc>gAc	p.A3084D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3084	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A3084D(1)|p.A1676D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCTGCGAGGCCTTGCTGGAG	0.642																																																2	Substitution - Missense(2)	kidney(2)											22	27	25					12																	124383326		2016	4175	6191	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9251C>A	12.37:g.124383326C>A	ENSP00000386770:p.Ala3084Asp		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689224	0.29962	.	.	ENSG00000197653	ENST00000409039	T	0.74106	-0.81	4.54	4.54	0.55810	Dynein heavy chain, coiled coil stalk (1);	0.428123	0.25316	N	0.031551	T	0.68183	0.2973	L	0.45581	1.43	0.48341	D	0.999638	B	0.21606	0.058	B	0.24269	0.052	T	0.63550	-0.6612	10	0.14252	T	0.57	.	17.4778	0.87664	0.0:1.0:0.0:0.0	.	3084	Q8IVF4	DYH10_HUMAN	D	3084	ENSP00000386770:A3084D	ENSP00000386770:A3084D	A	+	2	0	DNAH10	122949279	0.995000	0.38212	0.998000	0.56505	0.327000	0.28475	3.125000	0.50469	2.350000	0.79820	0.462000	0.41574	GCC		0.642	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124383326	C	A	124383326	3	1	226	1	0	0	0	0	1	0	0	0	4600	739	26	4	9469	4	DNAH10	12	124383326	Missense_Mutation	SNP	C	TCGA-B0-5710-01A-11D-1669-08	103375309	124383326	9468569	27	13703											
UBC	7316	hgsc.bcm.edu	37	12	125398050	125398052	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr12:125398050_125398052delTGA	ENST00000538617.1	-	3	582_584	c.266_268delTCA	c.(265-270)atcacc>acc	p.I89del	UBC_ENST00000546120.1_In_Frame_Del_p.I89del|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_In_Frame_Del_p.I89del|UBC_ENST00000536769.1_In_Frame_Del_p.I89del			P0CG48	UBC_HUMAN	ubiquitin C	469	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCTCAAGGGTGATGGTCTTGCC	0.537																																																0																																										SO:0001651	inframe_deletion	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.266_268delTCA	12.37:g.125398050_125398052delTGA	ENSP00000443053:p.Ile89del		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	In_Frame_Del	DEL	ENST00000538617.1	37																																																																																					0.537	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		-	125398052	TGA	-	125398050	7	5	226	1	0	1	0	1	0	0	0	0	16847	1696	59	0	1793	0	UBC	12	125398050	In_Frame_Del	DEL	TGA	TCGA-B0-5710-01A-11D-1669-08	1014724	125398050	8453845	28	13704											
GTF2F2	2963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	45841372	45841372	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr13:45841372A>C	ENST00000340473.6	+	7	632	c.491A>C	c.(490-492)gAa>gCa	p.E164A	GTF2F2_ENST00000494087.1_3'UTR	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	164					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.E164A(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		ATATAGATCGAATATGAAAGG	0.333																																																1	Substitution - Missense(1)	kidney(1)											81	83	83					13																	45841372		2203	4300	6503	SO:0001583	missense	2963			X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"General transcription factors"	4653	protein-coding gene	gene with protein product		189969	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.491A>C	13.37:g.45841372A>C	ENSP00000340823:p.Glu164Ala		A6NNS5|Q5W0H3	Missense_Mutation	SNP	ENST00000340473.6	37	CCDS9395.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241840	0.39598	.	.	ENSG00000188342	ENST00000340473	.	.	.	5.14	5.14	0.70334	.	0.112278	0.64402	D	0.000011	T	0.49541	0.1563	L	0.33624	1.015	0.58432	D	0.999993	B	0.02656	0.0	B	0.09377	0.004	T	0.43081	-0.9413	9	0.15952	T	0.53	-19.8531	14.1498	0.65375	1.0:0.0:0.0:0.0	.	164	P13984	T2FB_HUMAN	A	164	.	ENSP00000340823:E164A	E	+	2	0	GTF2F2	44739372	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	8.909000	0.92647	1.933000	0.56026	0.383000	0.25322	GAA		0.333	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044767.2	NM_004128		C	45841372	A	C	45841372	3	2	226	1	0	0	0	0	1	0	0	0	6861	246	9	5	517	5	GTF2F2	13	45841372	Missense_Mutation	SNP	A	TCGA-B0-5710-01A-11D-1669-08		45841372	69328506	29	13705											
SMEK1	55671	broad.mit.edu;hgsc.bcm.edu	37	14	91975891	91975891	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr14:91975891C>T	ENST00000554943.1	-	1	216	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	SMEK1_ENST00000337238.4_Missense_Mutation_p.R34Q|SMEK1_ENST00000554684.1_Missense_Mutation_p.R34Q|SMEK1_ENST00000428424.2_Missense_Mutation_p.R34Q|SMEK1_ENST00000555462.1_Missense_Mutation_p.R34Q			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	34	WH1.				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)		p.R34Q(2)		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)		GCCCTTCAGCCGCTCCACGTA	0.706																																																2	Substitution - Missense(2)	kidney(2)											24	24	24					14																	91975891		2203	4300	6503	SO:0001583	missense	55671			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.101G>A	14.37:g.91975891C>T	ENSP00000450883:p.Arg34Gln		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37		.	.	.	.	.	.	.	.	.	.	C	18.28	3.590043	0.66105	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390;ENST00000555029;ENST00000557018;ENST00000554511	T;T;T;T;T;D;D	0.98531	0.99;0.99;0.99;0.99;0.99;-4.98;-4.98	4.94	4.05	0.47172	Pleckstrin homology-type (1);	0.052589	0.64402	N	0.000001	D	0.94019	0.8084	N	0.16903	0.455	0.25330	N	0.989044	P;B;B	0.44044	0.825;0.226;0.334	B;B;B	0.40228	0.323;0.018;0.038	D	0.87919	0.2702	10	0.14656	T	0.56	-2.3366	13.1152	0.59295	0.0:0.9226:0.0:0.0774	.	34;34;34	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	Q	34	ENSP00000450864:R34Q;ENSP00000337125:R34Q;ENSP00000450883:R34Q;ENSP00000452596:R34Q;ENSP00000452257:R34Q;ENSP00000450432:R34Q;ENSP00000451939:R34Q	ENSP00000337125:R34Q	R	-	2	0	SMEK1	91045644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.128000	0.77217	1.205000	0.43262	0.561000	0.74099	CGG		0.706	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		T	91975891	C	T	91975891	3	4	226	1	0	0	0	0	1	0	0	0	14799	652	23	1	2421	1	SMEK1	14	91975891	Missense_Mutation	SNP	C	TCGA-B0-5710-01A-11D-1669-08		91975891	15373649	30	13706											
RTL1	388015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	101351021	101351021	+	Silent	SNP	C	C	T	rs536996041		TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr14:101351021C>T	ENST00000534062.1	-	1	163	c.105G>A	c.(103-105)gcG>gcA	p.A35A	MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	35					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.A35A(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGCCCGACGTCGCCTCGGTGG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17591	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											31	31	31					14																	101351021		1568	3582	5150	SO:0001819	synonymous_variant	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.105G>A	14.37:g.101351021C>T			E9PKS8	Silent	SNP	ENST00000534062.1	37	CCDS53910.1																																																																																				0.582	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		T	101351021	C	T	101351021	2	4	226	1	0	0	0	0	0	0	0	1	13730	871	31	1		1	RTL1	14	101351021	Silent	SNP	C	TCGA-B0-5710-01A-11D-1669-08	9375130	101351021	5998519	31	13707											
BLM	641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91304206	91304206	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr15:91304206A>C	ENST00000355112.3	+	7	1721	c.1603A>C	c.(1603-1605)Aaa>Caa	p.K535Q	BLM_ENST00000560509.1_Missense_Mutation_p.K535Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	535	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.K535Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGATCAGAATAAACATACTGC	0.358			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	1	Substitution - Missense(1)	kidney(1)											61	62	62					15																	91304206		2198	4298	6496	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1603A>C	15.37:g.91304206A>C	ENSP00000347232:p.Lys535Gln		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.583656	0.65992	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.48522	0.81	5.72	5.72	0.89469	.	0.323146	0.32518	N	0.005999	T	0.44329	0.1288	L	0.34521	1.04	0.34587	D	0.715088	P;P;P	0.52316	0.911;0.952;0.911	B;P;B	0.49140	0.311;0.601;0.311	T	0.55679	-0.8103	10	0.30854	T	0.27	-13.1141	12.377	0.55285	1.0:0.0:0.0:0.0	.	535;160;535	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	Q	535;188	ENSP00000347232:K535Q	ENSP00000347232:K535Q	K	+	1	0	BLM	89105210	0.389000	0.25205	0.052000	0.19188	0.876000	0.50452	2.901000	0.48695	2.172000	0.68678	0.482000	0.46254	AAA		0.358	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			C	91304206	A	C	91304206	3	2	226	1	0	0	0	0	1	0	0	0	1445	363	13	5	1625	5	BLM	15	91304206	Missense_Mutation	SNP	A	TCGA-B0-5710-01A-11D-1669-08		91304206	11227186	32	13708											
SF3B3	23450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	70594436	70594436	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr16:70594436G>A	ENST00000302516.5	+	16	2286	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	692					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.R692Q(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ACTCGCACTCGGTACCTGGGG	0.537																																																1	Substitution - Missense(1)	kidney(1)											142	121	128					16																	70594436		2198	4300	6498	SO:0001583	missense	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2075G>A	16.37:g.70594436G>A	ENSP00000305790:p.Arg692Gln		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	37	6.202185	0.97371	.	.	ENSG00000189091	ENST00000302516	T	0.35605	1.3	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.64360	-0.6426	10	0.30078	T	0.28	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	692	Q15393	SF3B3_HUMAN	Q	692	ENSP00000305790:R692Q	ENSP00000305790:R692Q	R	+	2	0	SF3B3	69151937	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.807000	0.99171	2.882000	0.98803	0.655000	0.94253	CGG		0.537	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		A	70594436	G	A	70594436	3	1	226	1	0	0	0	0	1	0	0	0	14158	1116	39	1	2133	1	SF3B3	16	70594436	Missense_Mutation	SNP	G	TCGA-B0-5710-01A-11D-1669-08		70594436	19760317	33	13709											
NF1	4763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29687577	29687577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr17:29687577G>T	ENST00000358273.4	+	57	8616	c.8233G>T	c.(8233-8235)Gga>Tga	p.G2745*	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Nonsense_Mutation_p.G538*|NF1_ENST00000356175.3_Nonsense_Mutation_p.G2724*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2745			G -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.G2745*(2)|p.G2745R(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTACCTGCCTGGAATTGATGA	0.423			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(2)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)											176	167	170					17																	29687577		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8233G>T	17.37:g.29687577G>T	ENSP00000351015:p.Gly2745*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444835	0.96187	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.27	5.27	0.74061	.	0.125344	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.8837	0.92367	0.0:0.0:1.0:0.0	.	.	.	.	X	2745;2724;2390;538	.	ENSP00000348498:G2724X	G	+	1	0	NF1	26711703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.326000	0.72905	2.465000	0.83290	0.655000	0.94253	GGA		0.423	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		T	29687577	G	T	29687577	4	4	226	1	0	0	0	0	0	1	0	0	10358	1349	47	4	8520	4	NF1	17	29687577	Nonsense_Mutation	SNP	G	TCGA-B0-5710-01A-11D-1669-08		29687577	51507633	34	13710											
MRM1	79154	hgsc.bcm.edu;ucsc.edu	37	17	34958701	34958701	+	IGR	DEL	G	G	-			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr17:34958701delG	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_Intron|MRM1_ENST00000250156.7_Frame_Shift_Del_p.Q154fs	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						ATGGGATCCAGGATCCCCGGA	0.652																																																0													17	17	17					17																	34958701		2104	4083	6187	SO:0001628	intergenic_variant	79922				CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	28639	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 24C, member 1"					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958701delG			B2RDZ3|Q9BUC7|Q9H674	Frame_Shift_Del	DEL	ENST00000251312.5	37	CCDS11315.2																																																																																				0.652	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		-	34958701	G	-	34958701	6	5	226	0	1	1	0	1	0	0	0	0	9773	991	35	0		0	MRM1	17	34958701	IGR	DEL	G	TCGA-B0-5710-01A-11D-1669-08	5271124	34958701	46236509	35	13711											
GRN	2896	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42426617	42426617	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr17:42426617G>T	ENST00000053867.3	+	2	147	c.85G>T	c.(85-87)Gcc>Tcc	p.A29S	GRN_ENST00000589265.1_Missense_Mutation_p.A29S	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	29					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)	p.A29S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGCCCTGTGGCCTGCTGCCT	0.647																																																1	Substitution - Missense(1)	kidney(1)											69	56	61					17																	42426617		2203	4300	6503	SO:0001583	missense	2896			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.85G>T	17.37:g.42426617G>T	ENSP00000053867:p.Ala29Ser		D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925240	0.73213	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.79653	-1.29	4.68	3.69	0.42338	.	0.121727	0.37393	N	0.002108	T	0.75496	0.3857	L	0.48642	1.525	0.27110	N	0.962398	P;D	0.54207	0.869;0.965	P;B	0.48334	0.574;0.437	T	0.66139	-0.5998	10	0.22109	T	0.4	-27.7891	9.2959	0.37815	0.1068:0.0:0.8932:0.0	.	29;29	B4E1G5;P28799	.;GRN_HUMAN	S	29	ENSP00000053867:A29S	ENSP00000053867:A29S	A	+	1	0	GRN	39782143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.530000	0.45641	2.319000	0.78375	0.457000	0.33378	GCC		0.647	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		T	42426617	G	T	42426617	3	4	226	1	0	0	0	0	1	0	0	0	6806	1203	42	4	87	4	GRN	17	42426617	Missense_Mutation	SNP	G	TCGA-B0-5710-01A-11D-1669-08	7467916	42426617	38768593	36	13712											
SMURF2	64750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62576936	62576936	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr17:62576936T>C	ENST00000262435.9	-	8	930	c.743A>G	c.(742-744)cAt>cGt	p.H248R	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	248					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)	p.H248R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGGAGGAGTATGTAAATGTGT	0.413																																																1	Substitution - Missense(1)	kidney(1)											271	236	248					17																	62576936		2203	4300	6503	SO:0001583	missense	64750			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.743A>G	17.37:g.62576936T>C	ENSP00000262435:p.His248Arg		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.551047	0.45383	.	.	ENSG00000108854	ENST00000262435	T	0.44881	0.91	5.72	5.72	0.89469	WW/Rsp5/WWP (1);	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	L	0.36672	1.1	0.80722	D	1	P	0.49090	0.919	P	0.55260	0.772	T	0.27502	-1.0072	10	0.22109	T	0.4	.	15.9971	0.80260	0.0:0.0:0.0:1.0	.	248	Q9HAU4	SMUF2_HUMAN	R	248	ENSP00000262435:H248R	ENSP00000262435:H248R	H	-	2	0	SMURF2	60007398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.175000	0.68902	0.528000	0.53228	CAT		0.413	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		C	62576936	T	C	62576936	3	2	226	1	0	0	0	0	1	0	0	0	14826	1464	51	3	1551	3	SMURF2	17	62576936	Missense_Mutation	SNP	T	TCGA-B0-5710-01A-11D-1669-08	20150319	62576936	18618274	37	13713											
STXBP2	6813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7703632	7703632	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr19:7703632C>T	ENST00000221283.5	+	2	89	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000441779.2_Missense_Mutation_p.R20W|STXBP2_ENST00000414284.2_Missense_Mutation_p.R20W|CTD-3214H19.6_ENST00000601797.1_RNA	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	20					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)	p.R20W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGGAGTTATTCGGAGTGTCAA	0.582																																																1	Substitution - Missense(1)	kidney(1)											72	71	71					19																	7703632		2203	4300	6503	SO:0001583	missense	6813			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.58C>T	19.37:g.7703632C>T	ENSP00000221283:p.Arg20Trp		B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592124	0.46214	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.80214	-1.35;-1.35;-1.35	4.61	4.61	0.57282	.	0.145261	0.44285	D	0.000468	D	0.88819	0.6540	M	0.85197	2.74	0.36426	D	0.864599	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69307	0.918;0.963;0.918	D	0.91808	0.5457	10	0.87932	D	0	-0.2451	10.3725	0.44062	0.1956:0.8044:0.0:0.0	.	20;20;20	E7EQD5;Q15833-2;Q15833	.;.;STXB2_HUMAN	W	20	ENSP00000221283:R20W;ENSP00000409471:R20W;ENSP00000413606:R20W	ENSP00000221283:R20W	R	+	1	2	STXBP2	7609632	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	4.130000	0.57964	2.532000	0.85374	0.563000	0.77884	CGG		0.582	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		T	7703632	C	T	7703632	3	4	226	1	0	0	0	0	1	0	0	0	15358	875	31	1	64	1	STXBP2	19	7703632	Missense_Mutation	SNP	C	TCGA-B0-5710-01A-11D-1669-08		7703632	51425351	38	13714											
APLP1	333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36362618	36362618	+	Silent	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr19:36362618G>A	ENST00000221891.4	+	5	834	c.642G>A	c.(640-642)ggG>ggA	p.G214G	NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000537454.2_Silent_p.G175G|APLP1_ENST00000586861.1_Silent_p.G208G	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	214					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.G214G(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCTCCAGGGACCCCCGACC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											86	78	81					19																	36362618		2203	4300	6503	SO:0001819	synonymous_variant	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.642G>A	19.37:g.36362618G>A			O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	CCDS32997.1																																																																																				0.647	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		A	36362618	G	A	36362618	2	1	226	1	0	0	0	0	0	0	0	1	778	1161	41	2		2	APLP1	19	36362618	Silent	SNP	G	TCGA-B0-5710-01A-11D-1669-08	28658986	36362618	22766365	39	13715											
NCAPH2	29781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50960439	50960439	+	Missense_Mutation	SNP	G	G	A	rs117383090		TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr22:50960439G>A	ENST00000420993.2	+	13	1255	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000395701.3_Missense_Mutation_p.R378Q|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R378Q	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	378					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.R378Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GACAGCAGGCGGCTTCGGCGA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20224	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											99	101	100					22																	50960439		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1133G>A	22.37:g.50960439G>A	ENSP00000410088:p.Arg378Gln		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	CCDS14094.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.59	3.657678	0.67586	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.83	3.74	0.42951	.	0.317790	0.33346	N	0.005008	T	0.54062	0.1835	M	0.72118	2.19	0.09310	N	1	D;D;D;D	0.89917	0.991;0.999;1.0;0.997	P;P;D;P	0.83275	0.62;0.742;0.996;0.832	T	0.45848	-0.9233	9	0.24483	T	0.36	-27.7512	4.3747	0.11265	0.2432:0.0:0.7568:0.0	.	378;378;356;378	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;.;CNDH2_HUMAN	Q	378	.	ENSP00000299821:R378Q	R	+	2	0	NCAPH2	49307305	0.699000	0.27786	0.123000	0.21794	0.002000	0.02628	1.545000	0.36169	2.240000	0.73641	0.591000	0.81541	CGG		0.587	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		A	50960439	G	A	50960439	3	1	226	1	0	0	0	0	1	0	0	0	10212	1116	39	1	1222	1	NCAPH2	22	50960439	Missense_Mutation	SNP	G	TCGA-B0-5710-01A-11D-1669-08		50960439	344127	40	13716											
KIAA2022	340533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	73962035	73962035	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chrX:73962035G>T	ENST00000055682.6	-	3	2968	c.2357C>A	c.(2356-2358)aCt>aAt	p.T786N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	786					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.T786N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGTAGAAAAGTGGAACTCTT	0.403																																																1	Substitution - Missense(1)	kidney(1)											99	92	94					X																	73962035		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2357C>A	X.37:g.73962035G>T	ENSP00000055682:p.Thr786Asn		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039965	0.35989	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32515	1.45;1.45	5.73	3.61	0.41365	.	0.455607	0.21923	N	0.067133	T	0.20373	0.0490	N	0.22421	0.69	0.28633	N	0.907559	B	0.06786	0.001	B	0.06405	0.002	T	0.11717	-1.0576	10	0.42905	T	0.14	-1.4487	10.6595	0.45694	0.0812:0.0:0.7779:0.1409	.	786	Q5QGS0	K2022_HUMAN	N	786	ENSP00000362567:T786N;ENSP00000055682:T786N	ENSP00000055682:T786N	T	-	2	0	KIAA2022	73878760	1.000000	0.71417	0.667000	0.29798	0.976000	0.68499	5.283000	0.65621	1.137000	0.42214	0.600000	0.82982	ACT		0.403	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		T	73962035	G	T	73962035	3	4	226	1	0	0	0	0	1	0	0	0	8271	1029	36	4	2201	4	KIAA2022	23	73962035	Missense_Mutation	SNP	G	TCGA-B0-5710-01A-11D-1669-08		73962035	81308525	41	13717											
IPP	3652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46212019	46212019	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr1:46212019A>T	ENST00000396478.3	-	2	167	c.65T>A	c.(64-66)cTc>cAc	p.L22H		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	22						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.L22H(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					GGCCAAGATGAGTTGGGCATG	0.428																																																1	Substitution - Missense(1)	kidney(1)											116	104	108					1																	46212019		2203	4300	6503	SO:0001583	missense	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.65T>A	1.37:g.46212019A>T	ENSP00000379739:p.Leu22His		A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909828	0.33721	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.70631	-0.5;-0.5	5.65	4.51	0.55191	BTB/POZ fold (2);	0.194612	0.45126	N	0.000382	T	0.58424	0.2121	N	0.20807	0.61	0.52099	D	0.999945	B;D	0.58620	0.008;0.983	B;P	0.45712	0.006;0.491	T	0.56920	-0.7899	10	0.35671	T	0.21	.	11.8102	0.52179	0.8618:0.0:0.0:0.1382	.	22;22	Q9Y573;A2A6V3	IPP_HUMAN;.	H	22	ENSP00000353024:L22H;ENSP00000379739:L22H	ENSP00000353024:L22H	L	-	2	0	IPP	45984606	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	6.872000	0.75536	0.933000	0.37291	0.533000	0.62120	CTC		0.428	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		T	46212019	A	T	46212019	3	4	227	1	0	0	0	0	1	0	0	0	7802	304	11	5	1823	5	IPP	1	46212019	Missense_Mutation	SNP	A	TCGA-B0-5711-01A-11D-1669-08		46212019	203038602	1	13718											
NPL	80896	hgsc.bcm.edu;ucsc.edu	37	1	182794926	182794926	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr1:182794926delA	ENST00000367553.1	+	11	793	c.749delA	c.(748-750)cagfs	p.Q250fs	NPL_ENST00000367555.1_Frame_Shift_Del_p.Q206fs|NPL_ENST00000258317.2_Frame_Shift_Del_p.Q250fs|NPL_ENST00000367552.2_Frame_Shift_Del_p.Q206fs|NPL_ENST00000367554.3_Frame_Shift_Del_p.Q231fs|NPL_ENST00000463899.1_3'UTR	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	250					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TTTTGTATCCAGAGATTTATC	0.328																																																0													144	153	150					1																	182794926		2203	4300	6503	SO:0001589	frameshift_variant	80896			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 1 (E. coli)"	611412	"chromosome 1 open reading frame 13"	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.749delA	1.37:g.182794926delA	ENSP00000356524:p.Gln250fs		B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Frame_Shift_Del	DEL	ENST00000367553.1	37	CCDS1350.1																																																																																				0.328	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769		-	182794926	A	-	182794926	7	5	227	1	0	1	0	1	0	0	0	0	10587	188	7	0	787	0	NPL	1	182794926	Frame_Shift_Del	DEL	A	TCGA-B0-5711-01A-11D-1669-08	136582907	182794926	66455695	2	13719											
GPR75	10936	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	54081819	54081819	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr2:54081819G>C	ENST00000394705.2	-	2	345	c.75C>G	c.(73-75)aaC>aaG	p.N25K	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	25					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)	p.N25K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAGAGGTGCTGTTTCCTTCCT	0.532																																																1	Substitution - Missense(1)	kidney(1)											113	106	109					2																	54081819		2203	4300	6503	SO:0001583	missense	10936			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"GPCR / Class A : Orphans"	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.75C>G	2.37:g.54081819G>C	ENSP00000378195:p.Asn25Lys		B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724155	0.30593	.	.	ENSG00000119737	ENST00000394705	T	0.64085	-0.08	5.33	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	.	.	.	0.41956	D	0.990685	P	0.43750	0.816	B	0.39068	0.289	T	0.59778	-0.7390	9	0.66056	D	0.02	-13.8216	11.097	0.48150	0.0886:0.0:0.9114:0.0	.	25	O95800	GPR75_HUMAN	K	25	ENSP00000378195:N25K	ENSP00000378195:N25K	N	-	3	2	GPR75	53935323	0.987000	0.35691	0.455000	0.27031	0.821000	0.46438	1.859000	0.39418	1.214000	0.43395	0.561000	0.74099	AAC		0.532	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			C	54081819	G	C	54081819	3	2	227	1	0	0	0	0	1	0	0	0	6710	1368	48	4	1551	4	GPR75	2	54081819	Missense_Mutation	SNP	G	TCGA-B0-5711-01A-11D-1669-08		54081819	189117554	3	13720											
COL5A2	1290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	189962055	189962055	+	Splice_Site	SNP	C	C	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr2:189962055C>T	ENST00000374866.3	-	6	678	c.404G>A	c.(403-405)gGa>gAa	p.G135E	AC133106.2_ENST00000419029.1_RNA	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	135					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G135E(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTGGAGGTCCCTAAAACAG	0.403																																																1	Substitution - Missense(1)	kidney(1)											134	118	123					2																	189962055		2203	4300	6503	SO:0001630	splice_region_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.403-1G>A	2.37:g.189962055C>T			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291196	0.80914	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99353	-5.77	5.96	5.96	0.96718	.	0.000000	0.52532	D	0.000065	D	0.99718	0.9891	H	0.98802	4.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97355	0.9966	9	.	.	.	.	17.336	0.87281	0.0:1.0:0.0:0.0	.	135	P05997	CO5A2_HUMAN	E	135;9	ENSP00000364000:G135E	.	G	-	2	0	COL5A2	189670300	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.778000	0.68940	2.831000	0.97527	0.650000	0.86243	GGA		0.403	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Missense_Mutation	T	189962055	C	T	189962055	5	4	227	1	0	0	0	0	0	0	1	0	3699	869	30	2	4291	2	COL5A2	2	189962055	Splice_Site	SNP	C	TCGA-B0-5711-01A-11D-1669-08	135880236	189962055	53237318	4	13721											
ABCA12	26154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	215880269	215880269	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr2:215880269T>C	ENST00000272895.7	-	15	2120	c.1901A>G	c.(1900-1902)tAc>tGc	p.Y634C	ABCA12_ENST00000389661.4_Missense_Mutation_p.Y316C	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	634					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.Y634C(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCGATGAGGTAAGACTGCCG	0.393																																					Ovarian(66;664 1488 5121 34295)											1	Substitution - Missense(1)	kidney(1)											104	99	101					2																	215880269		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1901A>G	2.37:g.215880269T>C	ENSP00000272895:p.Tyr634Cys		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504550	0.64410	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.92446	-3.04;-2.91	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000014	D	0.92977	0.7765	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93980	0.7257	10	0.87932	D	0	.	14.4069	0.67088	0.0:0.0:0.0:1.0	.	634;316	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	C	634;316	ENSP00000272895:Y634C;ENSP00000374312:Y316C	ENSP00000272895:Y634C	Y	-	2	0	ABCA12	215588514	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	4.852000	0.62904	2.279000	0.76181	0.533000	0.62120	TAC		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		C	215880269	T	C	215880269	3	2	227	1	0	0	0	0	1	0	0	0	30	1638	57	3	6042	3	ABCA12	2	215880269	Missense_Mutation	SNP	T	TCGA-B0-5711-01A-11D-1669-08	25918214	215880269	27319104	5	13722											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191527	10191527	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr3:10191527delA	ENST00000256474.2	+	3	1360	c.520delA	c.(520-522)aatfs	p.N174fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.N133fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	174					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N174fs*28(2)|p.P172fs*39(2)|p.E173fs*26(1)|p.E173_R176del(1)|p.N174D(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAAGCCTGAGAATTACAGGAG	0.532		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Deletion - Frameshift(5)|Substitution - Missense(1)|Deletion - In frame(1)	kidney(7)											90	82	85					3																	10191527		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.520delA	3.37:g.10191527delA	ENSP00000256474:p.Asn174fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.532	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191527	A	-	10191527	7	5	227	1	0	1	0	1	0	0	0	0	17167	246	9	0	530	0	VHL	3	10191527	Frame_Shift_Del	DEL	A	TCGA-B0-5711-01A-11D-1669-08		10191527	187830903	6	13723											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643898	52643898	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr3:52643898A>T	ENST00000296302.7	-	16	1999	c.1998T>A	c.(1996-1998)taT>taA	p.Y666*	PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Y634*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y681*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y666*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y666*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y666*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y681*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y666*			Q86U86	PB1_HUMAN	polybromo 1	666					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y666*(2)|p.Y634*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTACAGCTTCATAGACCTCAT	0.398			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											111	128	122					3																	52643898		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1998T>A	3.37:g.52643898A>T	ENSP00000296302:p.Tyr666*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	38	6.880800	0.97908	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.17	2.59	0.31030	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.4605	10.1694	0.42900	0.7583:0.0:0.2417:0.0	.	.	.	.	X	634;666;666;666;666;666;681;681;666;625	.	ENSP00000296302:Y666X	Y	-	3	2	PBRM1	52618938	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.948000	0.29096	0.221000	0.20879	0.533000	0.62120	TAT		0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52643898	A	T	52643898	4	4	227	1	0	0	0	0	0	1	0	0	11493	224	8	5	2962	5	PBRM1	3	52643898	Nonsense_Mutation	SNP	A	TCGA-B0-5711-01A-11D-1669-08	42452371	52643898	145378532	7	13724											
FAM13A	10144	hgsc.bcm.edu;ucsc.edu	37	4	89912229	89912229	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr4:89912229delA	ENST00000264344.5	-	4	707	c.500delT	c.(499-501)ctcfs	p.L168fs	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000515600.1_Frame_Shift_Del_p.L168fs|FAM13A_ENST00000509094.1_Frame_Shift_Del_p.L168fs|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	168	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTACTTGAGGAGGCAGTAGTG	0.413																																																0													101	97	99					4																	89912229		2203	4300	6503	SO:0001589	frameshift_variant	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.500delT	4.37:g.89912229delA	ENSP00000264344:p.Leu168fs		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Frame_Shift_Del	DEL	ENST00000264344.5	37	CCDS34029.1																																																																																				0.413	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			-	89912229	A	-	89912229	7	5	227	1	0	1	0	1	0	0	0	0	5454	304	11	0	2688	0	FAM13A	4	89912229	Frame_Shift_Del	DEL	A	TCGA-B0-5711-01A-11D-1669-08		89912229	101242047	8	13725											
KIAA0947	23379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	5462477	5462477	+	Silent	SNP	G	G	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr5:5462477G>T	ENST00000296564.7	+	13	3252	c.3030G>T	c.(3028-3030)gtG>gtT	p.V1010V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1010					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.V1010V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAGTGACTGTGTCAGGAGGGT	0.542																																																2	Substitution - coding silent(2)	kidney(2)											72	75	74					5																	5462477		2004	4189	6193	SO:0001819	synonymous_variant	23379																														ENST00000296564.7:c.3030G>T	5.37:g.5462477G>T			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	CCDS47187.1																																																																																				0.542	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			T	5462477	G	T	5462477	2	4	227	1	0	0	0	0	0	0	0	1	8204	1364	48	4		4	KIAA0947	5	5462477	Silent	SNP	G	TCGA-B0-5711-01A-11D-1669-08		5462477	175452783	9	13726											
OR10C1	442194	broad.mit.edu;hgsc.bcm.edu	37	6	29407843	29407843	+	Silent	SNP	C	C	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr6:29407843C>T	ENST00000444197.2	+	1	761	c.51C>T	c.(49-51)tcC>tcT	p.S17S	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S17S(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCGGCTTCTCCCACCTGGCCG	0.507																																																1	Substitution - coding silent(1)	kidney(1)											142	123	130					6																	29407843		1511	2709	4220	SO:0001819	synonymous_variant	442194				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.51C>T	6.37:g.29407843C>T			Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	CCDS34364.1																																																																																				0.507	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			T	29407843	C	T	29407843	2	4	227	1	0	0	0	0	0	0	0	1	10900	610	22	2		2	OR10C1	6	29407843	Silent	SNP	C	TCGA-B0-5711-01A-11D-1669-08		29407843	141707224	10	13727											
ELOVL5	60481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	53135507	53135507	+	Missense_Mutation	SNP	T	T	C	rs200213620		TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr6:53135507T>C	ENST00000542638.1	-	7	1087	c.640A>G	c.(640-642)Atc>Gtc	p.I214V	ELOVL5_ENST00000541407.1_Missense_Mutation_p.I241V|ELOVL5_ENST00000370918.4_Missense_Mutation_p.I204V|ELOVL5_ENST00000304434.6_Missense_Mutation_p.I214V			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	214				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)	p.I214V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					GTCTGGATGATTGTCAGCACA	0.522																																																1	Substitution - Missense(1)	kidney(1)						T	VAL/ILE,SER/ASN,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	77	65	69		721,515,640	6.1	1	6		69	0,8600		0,0,4300	no	missense,missense,missense	ELOVL5	NM_001242828.1,NM_001242830.1,NM_021814.4	29,46,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign	241/327,172/263,214/300	53135507	1,13005	2203	4300	6503	SO:0001583	missense	60481			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)", "spinocerebellar ataxia 38"	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.640A>G	6.37:g.53135507T>C	ENSP00000440728:p.Ile214Val		B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	ENST00000542638.1	37	CCDS4951.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.122647	0.56613	2.27E-4	0.0	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	6.14	6.14	0.99180	.	.	.	.	.	T	0.13586	0.0329	.	.	.	0.46586	D	0.999111	B;B	0.17465	0.013;0.022	B;B	0.29267	0.009;0.1	T	0.03112	-1.1071	8	0.45353	T	0.12	-15.637	16.806	0.85666	0.0:0.0:0.0:1.0	.	241;214	F6SH78;Q9NYP7	.;ELOV5_HUMAN	V	204;214;214;241	ENSP00000359956:I204V;ENSP00000306640:I214V;ENSP00000440728:I214V;ENSP00000438095:I241V	ENSP00000306640:I214V	I	-	1	0	ELOVL5	53243466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.940000	0.56599	2.367000	0.80283	0.529000	0.55759	ATC		0.522	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		C	53135507	T	C	53135507	3	2	227	1	0	0	0	0	1	0	0	0	5079	1493	52	3	267	3	ELOVL5	6	53135507	Missense_Mutation	SNP	T	TCGA-B0-5711-01A-11D-1669-08	23727664	53135507	117979560	11	13728											
KHDRBS2	202559	broad.mit.edu;ucsc.edu	37	6	62604655	62604655	+	Missense_Mutation	SNP	G	G	T	rs201374549	byFrequency	TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr6:62604655G>T	ENST00000281156.4	-	6	973	c.695C>A	c.(694-696)gCg>gAg	p.A232E		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	232	Pro-rich.			A -> V (in Ref. 1; AAL77219). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.A232E(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CACTGGAAGCGCTCCACGGGT	0.632																																																1	Substitution - Missense(1)	kidney(1)											48	49	48					6																	62604655		2203	4300	6503	SO:0001583	missense	202559			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.695C>A	6.37:g.62604655G>T	ENSP00000281156:p.Ala232Glu		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721925	0.48728	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.45276	0.9	5.52	5.52	0.82312	.	0.220525	0.38959	N	0.001517	T	0.15478	0.0373	N	0.19112	0.55	0.30651	N	0.755468	B	0.22800	0.075	B	0.25506	0.061	T	0.05451	-1.0884	10	0.30078	T	0.28	-3.6431	14.0284	0.64599	0.0726:0.0:0.9274:0.0	.	232	Q5VWX1	KHDR2_HUMAN	E	232	ENSP00000281156:A232E	ENSP00000281156:A232E	A	-	2	0	KHDRBS2	62662614	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.998000	0.70653	2.734000	0.93682	0.655000	0.94253	GCG		0.632	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		T	62604655	G	T	62604655	3	4	227	1	0	0	0	0	1	0	0	0	8149	1087	38	4	370	4	KHDRBS2	6	62604655	Missense_Mutation	SNP	G	TCGA-B0-5711-01A-11D-1669-08	9469148	62604655	108510412	12	13729											
SYNJ2	8871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	158495714	158495714	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr6:158495714G>T	ENST00000355585.4	+	16	2311	c.2236G>T	c.(2236-2238)Gac>Tac	p.D746Y	SYNJ2_ENST00000367122.2_Missense_Mutation_p.D746Y|SYNJ2_ENST00000367121.3_Missense_Mutation_p.D746Y|SYNJ2_ENST00000367112.1_5'Flank	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	746					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.D746Y(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TAAACGCCAAGACTGGAAGAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											94	89	90					6																	158495714		2203	4300	6503	SO:0001583	missense	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2236G>T	6.37:g.158495714G>T	ENSP00000347792:p.Asp746Tyr		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299158	0.81025	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.95272	-3.66;-3.66;-3.66	5.8	5.8	0.92144	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000012	D	0.96889	0.8984	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97267	0.9908	10	0.87932	D	0	.	20.1109	0.97911	0.0:0.0:1.0:0.0	.	746;746	O15056;O15056-3	SYNJ2_HUMAN;.	Y	746	ENSP00000356089:D746Y;ENSP00000356088:D746Y;ENSP00000347792:D746Y	ENSP00000347792:D746Y	D	+	1	0	SYNJ2	158415702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.128000	0.77217	2.217000	0.71921	0.529000	0.55759	GAC		0.343	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			T	158495714	G	T	158495714	3	4	227	1	0	0	0	0	1	0	0	0	15458	942	33	4	2298	4	SYNJ2	6	158495714	Missense_Mutation	SNP	G	TCGA-B0-5711-01A-11D-1669-08	95891059	158495714	12619353	13	13730											
SMC5	23137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	72892386	72892386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr9:72892386C>T	ENST00000361138.5	+	4	599	c.541C>T	c.(541-543)Cag>Tag	p.Q181*		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	181					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.Q181*(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GTTTCTCCCTCAGGTATGAGA	0.338																																																1	Substitution - Nonsense(1)	kidney(1)											65	70	68					9																	72892386		2203	4300	6503	SO:0001587	stop_gained	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.541C>T	9.37:g.72892386C>T	ENSP00000354957:p.Gln181*		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Nonsense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	C	36	5.973841	0.97162	.	.	ENSG00000198887	ENST00000361138	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.9262	19.5531	0.95330	0.0:1.0:0.0:0.0	.	.	.	.	X	181	.	ENSP00000354957:Q181X	Q	+	1	0	SMC5	72082206	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.487000	0.81328	2.634000	0.89283	0.460000	0.39030	CAG		0.338	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		T	72892386	C	T	72892386	4	4	227	1	0	0	0	0	0	1	0	0	14792	827	29	2	555	2	SMC5	9	72892386	Nonsense_Mutation	SNP	C	TCGA-B0-5711-01A-11D-1669-08		72892386	68321045	14	13731											
ALDOB	229	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104187311	104187312	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr9:104187311_104187312insA	ENST00000374855.4	-	8	936_937	c.812_813insT	c.(811-813)ttgfs	p.L271fs	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	271					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGCCACCAGACAAAAAGCAGAT	0.455																																																0																																										SO:0001589	frameshift_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.813dupT	9.37:g.104187316_104187316dupA	ENSP00000363988:p.Leu271fs		Q13741|Q13742|Q5T7D6	Frame_Shift_Ins	INS	ENST00000374855.4	37	CCDS6756.1																																																																																				0.455	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			A	104187312	-	A	104187311	7	5	227	1	0	1	1	0	0	0	0	0	508	477	17	0	289	0	ALDOB	9	104187311	Frame_Shift_Ins	INS	-	TCGA-B0-5711-01A-11D-1669-08	31294925	104187311	37026120	15	13732											
OR2AG1	144125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6806283	6806283	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr11:6806283C>A	ENST00000307401.4	+	1	36	c.15C>A	c.(13-15)aaC>aaA	p.N5K		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCTCTGGAACTTCACCTTGG	0.428																																																1	Substitution - Missense(1)	kidney(1)											107	103	104					11																	6806283		2201	4296	6497	SO:0001583	missense	144125			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"GPCR / Class A : Olfactory receptors"	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.15C>A	11.37:g.6806283C>A	ENSP00000307447:p.Asn5Lys		B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	C	8.803	0.933330	0.18131	.	.	ENSG00000170803	ENST00000307401	T	0.64085	-0.08	4.25	1.32	0.21799	.	0.475888	0.19469	N	0.113503	T	0.78559	0.4302	M	0.92268	3.29	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66428	-0.5926	10	0.87932	D	0	.	3.3044	0.06994	0.1836:0.5233:0.0:0.2931	.	5	Q9H205	O2AG1_HUMAN	K	5	ENSP00000307447:N5K	ENSP00000307447:N5K	N	+	3	2	OR2AG1	6762859	0.000000	0.05858	0.557000	0.28306	0.056000	0.15407	-0.541000	0.06099	0.190000	0.20209	-0.237000	0.12165	AAC		0.428	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		A	6806283	C	A	6806283	3	1	227	1	0	0	0	0	1	0	0	0	10986	564	20	4	17	4	OR2AG1	11	6806283	Missense_Mutation	SNP	C	TCGA-B0-5711-01A-11D-1669-08		6806283	128200233	16	13733											
AMBRA1	55626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46567203	46567203	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr11:46567203G>A	ENST00000458649.2	-	5	920	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	AMBRA1_ENST00000426438.1_Missense_Mutation_p.R168W|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R168W|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R168W|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R168W|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R168W|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R168W			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	168					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)		p.R168W(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AAGGGTTCCCGTCGACTCCAG	0.562																																																2	Substitution - Missense(2)	kidney(2)											133	108	117					11																	46567203		2201	4299	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.502C>T	11.37:g.46567203G>A	ENSP00000415327:p.Arg168Trp		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	G	19.98	3.926423	0.73327	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.83	3.88	0.44766	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.139583	0.56097	D	0.000034	T	0.43942	0.1270	L	0.36672	1.1	0.48135	D	0.999593	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999	P;D;D;D;D;D	0.66084	0.874;0.941;0.941;0.915;0.941;0.915	T	0.47195	-0.9136	10	0.87932	D	0	.	15.2216	0.73316	0.0:0.0:0.6383:0.3617	.	168;168;168;168;168;168	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	W	168	ENSP00000318313:R168W;ENSP00000433372:R168W;ENSP00000431926:R168W;ENSP00000410899:R168W;ENSP00000298834:R168W;ENSP00000415327:R168W;ENSP00000433945:R168W	ENSP00000298834:R168W	R	-	1	2	AMBRA1	46523779	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.796000	0.55507	1.437000	0.47472	0.591000	0.81541	CGG		0.562	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		A	46567203	G	A	46567203	3	1	227	1	0	0	0	0	1	0	0	0	565	1144	40	1	3184	1	AMBRA1	11	46567203	Missense_Mutation	SNP	G	TCGA-B0-5711-01A-11D-1669-08	39760920	46567203	88439313	17	13734											
LATS2	26524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	21557681	21557681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr13:21557681C>A	ENST00000382592.4	-	5	2569	c.2164G>T	c.(2164-2166)Gag>Tag	p.E722*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.E722*	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.E722*(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTGTCTGCCTCGGCCAGGATG	0.542																																																2	Substitution - Nonsense(2)	kidney(2)											155	148	150					13																	21557681		2203	4300	6503	SO:0001587	stop_gained	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2164G>T	13.37:g.21557681C>A	ENSP00000372035:p.Glu722*			Nonsense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	42	9.389594	0.99156	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	.	.	.	5.19	4.34	0.51931	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.9931	0.64378	0.0:0.9274:0.0:0.0726	.	.	.	.	X	722	.	ENSP00000372035:E722X	E	-	1	0	LATS2	20455681	1.000000	0.71417	0.889000	0.34880	0.829000	0.46940	5.877000	0.69675	1.426000	0.47256	0.555000	0.69702	GAG		0.542	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			A	21557681	C	A	21557681	4	1	227	1	0	0	0	0	0	1	0	0	8649	893	31	4	1118	4	LATS2	13	21557681	Nonsense_Mutation	SNP	C	TCGA-B0-5711-01A-11D-1669-08		21557681	93612197	18	13735											
C14orf1	11161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	76118207	76118207	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr14:76118207A>T	ENST00000256319.6	-	4	695	c.250T>A	c.(250-252)Ttc>Atc	p.F84I	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron	NM_007176.3	NP_009107.1	Q9UKR5	ERG28_HUMAN	chromosome 14 open reading frame 1	84					sterol biosynthetic process (GO:0016126)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.F84I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6		all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163)		BRCA - Breast invasive adenocarcinoma(234;0.00147)		GCAAGGAGGAAGGTCCAGAGT	0.483																																																1	Substitution - Missense(1)	kidney(1)											116	113	114					14																	76118207		2203	4300	6503	SO:0001583	missense	11161			AF134159	CCDS9845.1	14q24.3	2012-08-16			ENSG00000133935	ENSG00000133935			1187	protein-coding gene	gene with protein product		604576				10449901, 12958361, 11160377	Standard	NM_007176		Approved	NET51, ERG28	uc001xrt.3	Q9UKR5	OTTHUMG00000171488	ENST00000256319.6:c.250T>A	14.37:g.76118207A>T	ENSP00000256319:p.Phe84Ile		Q9P093|Q9UPI2	Missense_Mutation	SNP	ENST00000256319.6	37	CCDS9845.1	.	.	.	.	.	.	.	.	.	.	A	35	5.435212	0.96150	.	.	ENSG00000133935	ENST00000256319	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.84502	0.5486	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87646	0.2525	9	0.87932	D	0	-37.5025	15.5154	0.75818	1.0:0.0:0.0:0.0	.	84	Q9UKR5	ERG28_HUMAN	I	84	.	ENSP00000256319:F84I	F	-	1	0	C14orf1	75187960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.857000	0.92250	2.144000	0.66660	0.496000	0.49642	TTC		0.483	C14orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413683.1	NM_007176		T	76118207	A	T	76118207	3	4	227	1	0	0	0	0	1	0	0	0	1735	72	3	5	180	5	C14orf1	14	76118207	Missense_Mutation	SNP	A	TCGA-B0-5711-01A-11D-1669-08		76118207	31231333	19	13736											
SGK269	79834	hgsc.bcm.edu;ucsc.edu	37	15	77471481	77471481	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr15:77471481delT	ENST00000560626.2	-	4	3263	c.2788delA	c.(2788-2790)agcfs	p.S930fs	PEAK1_ENST00000312493.4_Frame_Shift_Del_p.S930fs|PEAK1_ENST00000558305.1_Frame_Shift_Del_p.S930fs			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	930					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CGGAAGAAGCTTTTAAATGAT	0.502																																																0													102	111	108					15																	77471481		1932	4128	6060	SO:0001589	frameshift_variant	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2788delA	15.37:g.77471481delT	ENSP00000452796:p.Ser930fs		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Frame_Shift_Del	DEL	ENST00000560626.2	37	CCDS42062.1																																																																																				0.502	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			-	77471481	T	-	77471481	7	5	227	1	0	1	0	1	0	0	0	0	14217	1609	56	0	2468	0	SGK269	15	77471481	Frame_Shift_Del	DEL	T	TCGA-B0-5711-01A-11D-1669-08		77471481	25059911	20	13737	105	2									
SGK269	79834	hgsc.bcm.edu	37	15	77471485	77471485	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr15:77471485A>C	ENST00000560626.2	-	4	3259	c.2784T>G	c.(2782-2784)ttT>ttG	p.F928L	PEAK1_ENST00000312493.4_Missense_Mutation_p.F928L|PEAK1_ENST00000558305.1_Missense_Mutation_p.F928L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	928					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGAAGCTTTTAAATGATATCC	0.507																																																0													100	108	105					15																	77471485		1922	4119	6041	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2784T>G	15.37:g.77471485A>C	ENSP00000452796:p.Phe928Leu		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266067	0.80358	.	.	ENSG00000173517	ENST00000312493	T	0.78003	-1.14	5.91	0.898	0.19264	.	0.000000	0.64402	D	0.000007	T	0.63426	0.2510	L	0.34521	1.04	0.44956	D	0.997975	P	0.43750	0.816	B	0.36766	0.232	T	0.62746	-0.6789	10	0.72032	D	0.01	-10.4191	11.1486	0.48444	0.6189:0.0:0.3811:0.0	.	928	Q9H792	PEAK1_HUMAN	L	928	ENSP00000309230:F928L	ENSP00000309230:F928L	F	-	3	2	AC087465.1	75258540	0.988000	0.35896	0.992000	0.48379	0.998000	0.95712	0.455000	0.21843	0.134000	0.18681	0.533000	0.62120	TTT		0.507	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			C	77471485	A	C	77471485	3	2	227	1	0	0	0	0	1	0	0	0	14217	359	13	5	2472	5	SGK269	15	77471485	Missense_Mutation	SNP	A	TCGA-B0-5711-01A-11D-1669-08	4	77471485	25059907	21	13738	105	2									
MEFV	4210	broad.mit.edu;ucsc.edu	37	16	3293876	3293876	+	Silent	SNP	G	G	A	rs104895161		TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr16:3293876G>A	ENST00000219596.1	-	9	1815	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	MEFV_ENST00000536379.1_Silent_p.G381G|MEFV_ENST00000339854.4_Silent_p.G412G|MEFV_ENST00000541159.1_Missense_Mutation_p.R440C	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	592	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R440C(1)|p.G592G(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GTGCCTGAGCGCCAATCAGCT	0.507																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)											47	49	49					16																	3293876		2197	4300	6497	SO:0001819	synonymous_variant	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1776C>T	16.37:g.3293876G>A			D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446391	0.12223	.	.	ENSG00000103313	ENST00000541159	T	0.63744	-0.06	4.92	-7.28	0.01456	.	.	.	.	.	T	0.47040	0.1424	.	.	.	0.33568	D	0.598242	.	.	.	.	.	.	T	0.52518	-0.8565	6	0.40728	T	0.16	-32.6299	2.5339	0.04710	0.3649:0.1124:0.3807:0.142	.	.	.	.	C	440	ENSP00000438711:R440C	ENSP00000438711:R440C	R	-	1	0	MEFV	3233877	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-1.373000	0.02568	-1.096000	0.03046	-1.127000	0.01993	CGC		0.507	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		A	3293876	G	A	3293876	2	1	227	1	0	0	0	0	0	0	0	1	9461	1074	38	1		1	MEFV	16	3293876	Silent	SNP	G	TCGA-B0-5711-01A-11D-1669-08		3293876	87060877	22	13739											
RNMT	8731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	13737037	13737037	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr18:13737037G>T	ENST00000383314.2	+	5	822	c.582G>T	c.(580-582)aaG>aaT	p.K194N	RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000592764.1_Missense_Mutation_p.K194N|RNMT_ENST00000262173.3_Missense_Mutation_p.K194N|RNMT_ENST00000543302.2_Missense_Mutation_p.K194N|RNMT_ENST00000589866.1_Missense_Mutation_p.K194N			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	194	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.K194N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TACGACAGAAGAAAAAACGTG	0.348																																					GBM(29;474 594 19092 36647 41529)											1	Substitution - Missense(1)	kidney(1)											119	120	120					18																	13737037		2203	4300	6503	SO:0001583	missense	8731			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.582G>T	18.37:g.13737037G>T	ENSP00000372804:p.Lys194Asn		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002105	0.35320	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.62	4.47	0.54385	.	0.238609	0.49305	D	0.000141	T	0.33527	0.0866	N	0.19112	0.55	0.80722	D	1	P;P	0.44344	0.692;0.833	B;P	0.45971	0.366;0.499	T	0.06197	-1.0840	9	0.15499	T	0.54	-22.9506	7.891	0.29677	0.7081:0.0:0.2919:0.0	.	194;194	O43148-2;O43148	.;MCES_HUMAN	N	194;194;16;194	.	ENSP00000262173:K194N	K	+	3	2	RNMT	13727037	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	0.902000	0.28459	0.964000	0.38108	-0.312000	0.09012	AAG		0.348	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		T	13737037	G	T	13737037	3	4	227	1	0	0	0	0	1	0	0	0	13512	933	33	4	592	4	RNMT	18	13737037	Missense_Mutation	SNP	G	TCGA-B0-5711-01A-11D-1669-08		13737037	64340211	23	13740											
MEP1B	4225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29788192	29788192	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr18:29788192A>T	ENST00000269202.6	+	9	924	c.877A>T	c.(877-879)Agg>Tgg	p.R293W	MEP1B_ENST00000581447.1_Missense_Mutation_p.R293W	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	293	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R293W(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACAGGTTCCCAGGGGGCCAGA	0.483																																																1	Substitution - Missense(1)	kidney(1)											93	95	95					18																	29788192		1913	4117	6030	SO:0001583	missense	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.877A>T	18.37:g.29788192A>T	ENSP00000269202:p.Arg293Trp		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454528	0.63290	.	.	ENSG00000141434	ENST00000269202	T	0.02015	4.5	5.48	-7.71	0.01254	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	1.563340	0.03383	N	0.200600	T	0.05090	0.0136	L	0.36672	1.1	0.09310	N	1	D	0.56521	0.976	P	0.56474	0.799	T	0.29549	-1.0008	10	0.72032	D	0.01	6.1214	12.1096	0.53831	0.2593:0.0:0.6553:0.0854	.	293	Q16820	MEP1B_HUMAN	W	293	ENSP00000269202:R293W	ENSP00000269202:R293W	R	+	1	2	MEP1B	28042190	0.000000	0.05858	0.000000	0.03702	0.512000	0.34134	0.169000	0.16641	-1.869000	0.01141	-0.375000	0.07067	AGG		0.483	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		T	29788192	A	T	29788192	3	4	227	1	0	0	0	0	1	0	0	0	9478	179	7	5	911	5	MEP1B	18	29788192	Missense_Mutation	SNP	A	TCGA-B0-5711-01A-11D-1669-08	16051155	29788192	48289056	24	13741											
MYO5B	4645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	47438527	47438527	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr18:47438527A>C	ENST00000285039.7	-	18	2406	c.2107T>G	c.(2107-2109)Ttt>Gtt	p.F703V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	703	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.F703V(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGGTTGAAAAAGTCATGGTAG	0.547																																																1	Substitution - Missense(1)	kidney(1)											142	138	139					18																	47438527		1964	4171	6135	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2107T>G	18.37:g.47438527A>C	ENSP00000285039:p.Phe703Val		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645282	0.87859	.	.	ENSG00000167306	ENST00000285039	D	0.89746	-2.56	5.38	5.38	0.77491	Myosin head, motor domain (2);	0.057917	0.64402	D	0.000001	D	0.95354	0.8492	M	0.94063	3.49	0.80722	D	1	D	0.67145	0.996	P	0.62382	0.901	D	0.96494	0.9366	10	0.87932	D	0	.	15.3533	0.74405	1.0:0.0:0.0:0.0	.	703	Q9ULV0	MYO5B_HUMAN	V	703	ENSP00000285039:F703V	ENSP00000285039:F703V	F	-	1	0	MYO5B	45692525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.157000	0.94714	2.161000	0.67846	0.460000	0.39030	TTT		0.547	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			C	47438527	A	C	47438527	3	2	227	1	0	0	0	0	1	0	0	0	10081	72	3	5	3531	5	MYO5B	18	47438527	Missense_Mutation	SNP	A	TCGA-B0-5711-01A-11D-1669-08	17650335	47438527	30638721	25	13742											
ACTN4	81	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39216363	39216363	+	Splice_Site	SNP	G	G	A			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr19:39216363G>A	ENST00000252699.2	+	17	2086		c.e17-1		ACTN4_ENST00000424234.2_Splice_Site|ACTN4_ENST00000390009.3_Splice_Site	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4						actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.?(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACCCCCGTAGGAGATCGGGC	0.657																																					Colon(168;199 1940 10254 46213 46384)											1	Unknown(1)	kidney(1)											46	38	41					19																	39216363		2203	4300	6503	SO:0001630	splice_region_variant	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2011-1G>A	19.37:g.39216363G>A			A4K467|D6PXK4|O76048	Splice_Site	SNP	ENST00000252699.2	37	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575153	0.45902	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8788	0.70516	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACTN4	43908203	1.000000	0.71417	0.997000	0.53966	0.455000	0.32408	9.601000	0.98297	2.098000	0.63641	0.561000	0.74099	.		0.657	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1		Intron	A	39216363	G	A	39216363	5	1	227	1	0	0	0	0	0	0	1	0	207	1014	35	2	2076	2	ACTN4	19	39216363	Splice_Site	SNP	G	TCGA-B0-5711-01A-11D-1669-08		39216363	19912620	26	13743											
PAPL	390928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39597629	39597629	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr19:39597629C>T	ENST00000331256.5	+	12	1430	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		386						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)	p.P386S(1)									CTTCCCGAGGCCCTGGAGTGC	0.647																																																1	Substitution - Missense(1)	kidney(1)											67	52	57					19																	39597629		2203	4300	6503	SO:0001583	missense	390928																														ENST00000331256.5:c.1156C>T	19.37:g.39597629C>T	ENSP00000327557:p.Pro386Ser		B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	c	11.39	1.623609	0.28889	.	.	ENSG00000183760	ENST00000331256	.	.	.	4.61	4.61	0.57282	.	0.299519	0.32687	N	0.005769	T	0.39036	0.1063	N	0.25245	0.725	0.26276	N	0.978351	P	0.41131	0.739	P	0.50617	0.646	T	0.20773	-1.0265	9	0.42905	T	0.14	-36.5983	10.1356	0.42704	0.1994:0.8006:0.0:0.0	.	386	Q6ZNF0	PAPL_HUMAN	S	386	.	ENSP00000327557:P386S	P	+	1	0	AC011443.1	44289469	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	2.289000	0.43523	2.425000	0.82216	0.538000	0.68166	CCC		0.647	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			T	39597629	C	T	39597629	3	4	227	1	0	0	0	0	1	0	0	0	11429	739	26	2	1198	2	PAPL	19	39597629	Missense_Mutation	SNP	C	TCGA-B0-5711-01A-11D-1669-08	381266	39597629	19531354	27	13744											
LGALS14	56891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40199946	40199946	+	Missense_Mutation	SNP	G	G	A	rs528408473		TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr19:40199946G>A	ENST00000392052.3	+	4	636	c.413G>A	c.(412-414)aGc>aAc	p.S138N	LGALS14_ENST00000360675.3_Missense_Mutation_p.S167N	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	138	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)	p.S138N(1)|p.S167N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			GTGCTTATCAGCGATTGAGGG	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22839	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)											99	87	91					19																	40199946		2203	4300	6503	SO:0001583	missense	56891			AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"Lectins, galactoside-binding"	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.413G>A	19.37:g.40199946G>A	ENSP00000375905:p.Ser138Asn		A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	CCDS46073.1	.	.	.	.	.	.	.	.	.	.	.	1.592	-0.528888	0.04112	.	.	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.17370	2.28;2.28	0.902	-1.8	0.07907	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (2);	.	.	.	.	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.10450	0.005;0.001	T	0.40831	-0.9542	9	0.16896	T	0.51	.	2.5026	0.04637	0.2534:0.3139:0.4327:0.0	.	138;167	Q8TCE9;A8MPV8	PPL13_HUMAN;.	N	138;167	ENSP00000375905:S138N;ENSP00000353893:S167N	ENSP00000353893:S167N	S	+	2	0	LGALS14	44891786	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.960000	0.00673	-0.722000	0.04922	-0.657000	0.03884	AGC		0.483	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		A	40199946	G	A	40199946	3	1	227	1	0	0	0	0	1	0	0	0	8743	971	34	2	533	2	LGALS14	19	40199946	Missense_Mutation	SNP	G	TCGA-B0-5711-01A-11D-1669-08	602317	40199946	18929037	28	13745											
LIPE	3991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42910438	42910438	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr19:42910438T>A	ENST00000244289.4	-	7	2516	c.2240A>T	c.(2239-2241)gAt>gTt	p.D747V	LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	747					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.D747V(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CATGATGCCATCTGGCACCCG	0.662																																																1	Substitution - Missense(1)	kidney(1)											55	52	53					19																	42910438		2203	4300	6503	SO:0001583	missense	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2240A>T	19.37:g.42910438T>A	ENSP00000244289:p.Asp747Val		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232362	0.79688	.	.	ENSG00000079435	ENST00000244289	T	0.09911	2.93	5.09	4.06	0.47325	Alpha/beta hydrolase fold-3 (1);	0.205939	0.39475	N	0.001343	T	0.19685	0.0473	L	0.47016	1.485	0.80722	D	1	P	0.49783	0.928	P	0.58780	0.845	T	0.00359	-1.1791	10	0.54805	T	0.06	-14.8539	9.6433	0.39853	0.0:0.0847:0.0:0.9153	.	747	Q05469	LIPS_HUMAN	V	747	ENSP00000244289:D747V	ENSP00000244289:D747V	D	-	2	0	LIPE	47602278	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.084000	0.64462	2.047000	0.60756	0.524000	0.50904	GAT		0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		A	42910438	T	A	42910438	3	1	227	1	0	0	0	0	1	0	0	0	8823	1435	50	5	1006	5	LIPE	19	42910438	Missense_Mutation	SNP	T	TCGA-B0-5711-01A-11D-1669-08	2710492	42910438	16218545	29	13746											
SFRS15	57466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33067196	33067196	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr21:33067196G>A	ENST00000286835.7	-	10	1548	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L	SCAF4_ENST00000399804.1_Missense_Mutation_p.P389L|SCAF4_ENST00000434667.3_Missense_Mutation_p.P374L	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	389						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P389L(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTGCTGCACTGGTGGAGTTGG	0.458																																																1	Substitution - Missense(1)	kidney(1)											115	106	109					21																	33067196		2203	4300	6503	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1166C>T	21.37:g.33067196G>A	ENSP00000286835:p.Pro389Leu		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669778	0.67814	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.46063	0.89;0.88;0.88	6.17	6.17	0.99709	.	0.244180	0.42548	D	0.000698	T	0.45756	0.1358	M	0.64997	1.995	0.80722	D	1	B;B;B;B	0.23377	0.03;0.084;0.05;0.03	B;B;B;B	0.26770	0.033;0.07;0.073;0.033	T	0.32824	-0.9892	10	0.59425	D	0.04	-2.3914	16.376	0.83392	0.0:0.0:0.8677:0.1323	.	374;389;389;389	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	L	374;389;389	ENSP00000402377:P374L;ENSP00000286835:P389L;ENSP00000382703:P389L	ENSP00000286835:P389L	P	-	2	0	SCAF4	31989067	0.999000	0.42202	0.977000	0.42913	0.971000	0.66376	5.673000	0.68109	2.941000	0.99782	0.655000	0.94253	CCA		0.458	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		A	33067196	G	A	33067196	3	1	227	1	0	0	0	0	1	0	0	0	14177	1348	47	2	2321	2	SFRS15	21	33067196	Missense_Mutation	SNP	G	TCGA-B0-5711-01A-11D-1669-08		33067196	15062699	30	13747											
MCM3AP	8888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47663535	47663535	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5711-01A-11D-1669-08	TCGA-B0-5711-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cf09ae91-5523-494c-8f30-c26f6ba37624	bf8e0bcb-ce02-4b84-bd83-f34a5a14f4ea	g.chr21:47663535G>T	ENST00000397708.1	-	25	5394	c.5140C>A	c.(5140-5142)Ctc>Atc	p.L1714I	MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.L1714I|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1714	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.L1714I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTTCTGTGGAGCAGGTTCTCC	0.612																																																1	Substitution - Missense(1)	kidney(1)											60	56	57					21																	47663535		2203	4300	6503	SO:0001583	missense	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5140C>A	21.37:g.47663535G>T	ENSP00000380820:p.Leu1714Ile		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304771	0.60305	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.14893	2.47;2.47	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.32436	0.0829	L	0.36672	1.1	0.46279	D	0.998968	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.02047	-1.1223	10	0.72032	D	0.01	-22.3182	14.5261	0.67890	0.0724:0.0:0.9276:0.0	.	1714;209	O60318;B3KT88	MCM3A_HUMAN;.	I	1714;1714;209	ENSP00000380820:L1714I;ENSP00000291688:L1714I	ENSP00000291688:L1714I	L	-	1	0	MCM3AP	46487963	1.000000	0.71417	0.990000	0.47175	0.152000	0.21847	7.100000	0.76989	2.551000	0.86045	0.655000	0.94253	CTC		0.612	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		T	47663535	G	T	47663535	3	4	227	1	0	0	0	0	1	0	0	0	9390	971	34	4	822	4	MCM3AP	21	47663535	Missense_Mutation	SNP	G	TCGA-B0-5711-01A-11D-1669-08	14596339	47663535	466360	31	13748											
MTOR	2475	broad.mit.edu	37	1	11174411	11174411	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:11174411C>T	ENST00000361445.4	-	53	7340	c.7264G>A	c.(7264-7266)Gtc>Atc	p.V2422I	MTOR_ENST00000376838.1_Missense_Mutation_p.V627I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2422	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGGTCATAGACAAAGGCTTCC	0.527																																																0													151	126	135					1																	11174411		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7264G>A	1.37:g.11174411C>T	ENSP00000354558:p.Val2422Ile		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014400	0.93404	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.76709	-1.04;-1.04;-1.04	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	L	0.31157	0.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77054	-0.2730	10	0.20046	T	0.44	-18.7967	19.2499	0.93919	0.0:1.0:0.0:0.0	.	2422	P42345	MTOR_HUMAN	I	2422;627;78	ENSP00000354558:V2422I;ENSP00000366034:V627I;ENSP00000398745:V78I	ENSP00000354558:V2422I	V	-	1	0	MTOR	11096998	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	GTC		0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11174411	C	T	11174411	3	4	228	1	0	0	0	0	1	0	0	0	9956	478	17	2	409	2	MTOR	1	11174411	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08		11174411	238076210	1	13749											
CCDC76	54482	broad.mit.edu	37	1	100613725	100613725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:100613725C>T	ENST00000370141.2	+	10	1099	c.1093C>T	c.(1093-1095)Cag>Tag	p.Q365*		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	365					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CCATTATTTCCAGCGAATGAG	0.428																																																0													107	100	102					1																	100613725		2203	4300	6503	SO:0001587	stop_gained	54482			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.1093C>T	1.37:g.100613725C>T	ENSP00000359160:p.Gln365*		Q5VVL0|Q9NW65	Nonsense_Mutation	SNP	ENST00000370141.2	37	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587687	0.86851	.	.	ENSG00000122435	ENST00000370141	.	.	.	5.75	5.75	0.90469	.	0.132265	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4669	15.5457	0.76097	0.1386:0.8614:0.0:0.0	.	.	.	.	X	365	.	ENSP00000359160:Q365X	Q	+	1	0	CCDC76	100386313	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.954000	0.56708	2.719000	0.93026	0.655000	0.94253	CAG		0.428	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		T	100613725	C	T	100613725	4	4	228	1	0	0	0	0	0	1	0	0	2852	595	21	2	1131	2	CCDC76	1	100613725	Nonsense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	89439314	100613725	148636896	2	13750											
BCL9	607	broad.mit.edu	37	1	147092835	147092835	+	Silent	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:147092835C>T	ENST00000234739.3	+	8	3614	c.2874C>T	c.(2872-2874)tcC>tcT	p.S958S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	958	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCATGGCCTCCCCAGCCATGC	0.527			T	"IGH@, IGL@"	B-ALL																																		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													51	51	51					1																	147092835		2203	4300	6503	SO:0001819	synonymous_variant	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2874C>T	1.37:g.147092835C>T			Q5T489	Silent	SNP	ENST00000234739.3	37	CCDS30833.1																																																																																				0.527	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		T	147092835	C	T	147092835	2	4	228	1	0	0	0	0	0	0	0	1	1381	610	22	2		2	BCL9	1	147092835	Silent	SNP	C	TCGA-B0-5712-01A-11D-1669-08	46479110	147092835	102157786	3	13751											
SEMA6C	10500	broad.mit.edu	37	1	151108514	151108514	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:151108514T>A	ENST00000341697.3	-	13	2923	c.1232A>T	c.(1231-1233)cAt>cTt	p.H411L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	411	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAGAGGCTGATGGGTGACAGG	0.567																																																0													119	115	116					1																	151108514		2203	4300	6503	SO:0001583	missense	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1232A>T	1.37:g.151108514T>A	ENSP00000344148:p.His411Leu		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038784	0.75617	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.35	4.22	0.49857	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.235964	0.44097	D	0.000500	T	0.04588	0.0125	L	0.28344	0.845	0.37033	D	0.896787	B;P;P;P	0.49185	0.452;0.902;0.79;0.92	B;B;B;P	0.47603	0.216;0.415;0.219;0.551	T	0.43507	-0.9387	10	0.37606	T	0.19	.	9.4082	0.38475	0.0:0.085:0.0:0.915	.	411;371;411;411	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	L	411;371;411;411	ENSP00000357910:H411L;ENSP00000357908:H371L;ENSP00000357909:H411L;ENSP00000344148:H411L	ENSP00000344148:H411L	H	-	2	0	SEMA6C	149375138	0.958000	0.32768	1.000000	0.80357	0.975000	0.68041	1.701000	0.37825	0.880000	0.35969	0.459000	0.35465	CAT		0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		A	151108514	T	A	151108514	3	1	228	1	0	0	0	0	1	0	0	0	14047	1464	51	5	1688	5	SEMA6C	1	151108514	Missense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08	4015679	151108514	98142107	4	13752											
NPR1	4881	broad.mit.edu	37	1	153653153	153653153	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:153653153G>T	ENST00000368680.3	+	2	1370	c.898G>T	c.(898-900)Gtc>Ttc	p.V300F		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	300					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGGCAGGATGTCAGTGCCCG	0.592																																					Pancreas(141;1349 1870 15144 15830 40702)											0													39	39	39					1																	153653153		2203	4300	6503	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.898G>T	1.37:g.153653153G>T	ENSP00000357669:p.Val300Phe		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	G	4.911	0.169284	0.09339	.	.	ENSG00000169418	ENST00000368680	T	0.73469	-0.75	4.47	1.5	0.22942	Extracellular ligand-binding receptor (1);	1.138800	0.06574	N	0.749043	T	0.38321	0.1036	N	0.22421	0.69	0.18873	N	0.999988	B	0.11235	0.004	B	0.08055	0.003	T	0.33624	-0.9861	10	0.56958	D	0.05	.	5.0325	0.14417	0.1725:0.0:0.6539:0.1736	.	300	P16066	ANPRA_HUMAN	F	300	ENSP00000357669:V300F	ENSP00000357669:V300F	V	+	1	0	NPR1	151919777	0.002000	0.14202	0.227000	0.23927	0.085000	0.17905	1.115000	0.31209	0.135000	0.18707	-0.321000	0.08615	GTC		0.592	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		T	153653153	G	T	153653153	3	4	228	1	0	0	0	0	1	0	0	0	10596	1377	48	4	904	4	NPR1	1	153653153	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08	2544639	153653153	95597468	5	13753											
DUSP12	11266	broad.mit.edu	37	1	161722158	161722158	+	Splice_Site	DEL	A	A	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:161722158delA	ENST00000367943.4	+	4	610	c.578delA	c.(577-579)gaa>ga	p.E193fs		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	193					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGTCATATAGAATTGCAGAAT	0.338																																																0													86	97	93					1																	161722158		2203	4298	6501	SO:0001630	splice_region_variant	11266			AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3067	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.578-1A>-	1.37:g.161722158delA			Q5VXA8	Splice_Site	DEL	ENST00000367943.4	37	CCDS1234.1																																																																																				0.338	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240	Frame_Shift_Del	-	161722158	A	-	161722158	8	5	228	1	0	1	0	1	0	0	1	0	4814	260	9	0	592	0	DUSP12	1	161722158	Splice_Site	DEL	A	TCGA-B0-5712-01A-11D-1669-08	8069005	161722158	87528463	6	13754											
RGS18	64407	broad.mit.edu	37	1	192128415	192128415	+	Missense_Mutation	SNP	G	G	A	rs201783745		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:192128415G>A	ENST00000367460.3	+	2	366	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	62					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R62H(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGACACCCGCTCCAGTAGA	0.353																																																1	Substitution - Missense(1)	ovary(1)											47	51	49					1																	192128415		2203	4300	6503	SO:0001583	missense	64407			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.185G>A	1.37:g.192128415G>A	ENSP00000356430:p.Arg62His		B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	0.777	-0.763574	0.02996	.	.	ENSG00000150681	ENST00000367460	T	0.50548	0.74	5.88	-1.3	0.09259	.	0.643725	0.18259	N	0.146710	T	0.13030	0.0316	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15178	-1.0446	10	0.29301	T	0.29	.	1.9276	0.03320	0.4129:0.2511:0.0716:0.2644	.	62	Q9NS28	RGS18_HUMAN	H	62	ENSP00000356430:R62H	ENSP00000356430:R62H	R	+	2	0	RGS18	190395038	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.066000	0.11598	-0.430000	0.07318	-0.300000	0.09419	CGC		0.353	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		A	192128415	G	A	192128415	3	1	228	1	0	0	0	0	1	0	0	0	13306	1087	38	1	191	1	RGS18	1	192128415	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08	30406257	192128415	57122206	7	13755											
SERTAD4	56256	broad.mit.edu	37	1	210415007	210415007	+	Silent	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:210415007A>C	ENST00000367012.3	+	4	626	c.396A>C	c.(394-396)atA>atC	p.I132I	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	132	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CTGTCCTTATAAACAATTTGA	0.408																																																0													100	104	103					1																	210415007		2203	4300	6503	SO:0001819	synonymous_variant	56256			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.396A>C	1.37:g.210415007A>C			B2RD32	Silent	SNP	ENST00000367012.3	37	CCDS1494.1																																																																																				0.408	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		C	210415007	A	C	210415007	2	2	228	1	0	0	0	0	0	0	0	1	14129	352	13	5		5	SERTAD4	1	210415007	Silent	SNP	A	TCGA-B0-5712-01A-11D-1669-08	18286592	210415007	38835614	8	13756											
ZNF692	55657	broad.mit.edu	37	1	249151460	249151460	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:249151460C>T	ENST00000306601.4	-	4	614	c.448G>A	c.(448-450)Gag>Aag	p.E150K	AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000427146.1_Missense_Mutation_p.E150K|ZNF692_ENST00000366469.5_Missense_Mutation_p.E150K|ZNF692_ENST00000451251.1_Missense_Mutation_p.E155K|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Missense_Mutation_p.E150K	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTCGTGGCCTCGGAACACCAA	0.537																																																0													87	89	88					1																	249151460		2203	4300	6503	SO:0001583	missense	55657			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.448G>A	1.37:g.249151460C>T	ENSP00000305483:p.Glu150Lys		B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	3.957	-0.011082	0.07727	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.07216	3.23;3.26;3.26;3.23;3.21	3.69	1.78	0.24846	.	0.636563	0.14658	N	0.306161	T	0.05731	0.0150	L	0.36672	1.1	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43893	-0.9363	10	0.14252	T	0.57	-6.5866	5.338	0.15969	0.0:0.6792:0.2063:0.1145	.	155;150;150	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	K	150;150;150;150;155	ENSP00000305483:E150K;ENSP00000390044:E150K;ENSP00000355427:E150K;ENSP00000355425:E150K;ENSP00000391200:E155K	ENSP00000305483:E150K	E	-	1	0	ZNF692	247118083	0.002000	0.14202	0.002000	0.10522	0.005000	0.04900	0.730000	0.26043	0.524000	0.28502	-0.170000	0.13304	GAG		0.537	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		T	249151460	C	T	249151460	3	4	228	1	0	0	0	0	1	0	0	0	18102	893	31	1	1147	1	ZNF692	1	249151460	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	38736453	249151460	99161	9	13757											
MTA3	57504	broad.mit.edu	37	2	42924943	42924943	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:42924943A>T	ENST00000405094.1	+	11	994	c.994A>T	c.(994-996)Agt>Tgt	p.S332C	MTA3_ENST00000406652.1_Missense_Mutation_p.S276C|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406911.1_Missense_Mutation_p.S332C|MTA3_ENST00000405592.1_Missense_Mutation_p.S276C|MTA3_ENST00000407270.3_Missense_Mutation_p.S332C			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	332						intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AGAAGCTGAGAGTAAACTGAA	0.264																																																0													51	50	50					2																	42924943		1790	4060	5850	SO:0001583	missense	57504			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.994A>T	2.37:g.42924943A>T	ENSP00000385823:p.Ser332Cys		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37		.	.	.	.	.	.	.	.	.	.	A	21.6	4.174894	0.78564	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.52754	0.67;0.67;0.68;0.7;0.65	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.74023	0.95;0.959;0.982	T	0.69150	-0.5221	10	0.51188	T	0.08	-8.3088	14.8082	0.69974	1.0:0.0:0.0:0.0	.	332;332;276	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	C	276;276;332;332;332;332	ENSP00000383973:S276C;ENSP00000384249:S276C;ENSP00000385045:S332C;ENSP00000385241:S332C;ENSP00000385823:S332C	ENSP00000282366:S332C	S	+	1	0	MTA3	42778447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.688000	0.91260	1.975000	0.57531	0.533000	0.62120	AGT		0.264	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		T	42924943	A	T	42924943	3	4	228	1	0	0	0	0	1	0	0	0	9912	304	11	5	1036	5	MTA3	2	42924943	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08		42924943	200274430	10	13758											
HAAO	23498	broad.mit.edu	37	2	43010461	43010461	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:43010461C>T	ENST00000294973.6	-	4	398	c.343G>A	c.(343-345)Ggg>Agg	p.G115R		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						TACCTGAGCCCATCTAGCTCG	0.582																																																0													33	30	31					2																	43010461		2203	4299	6502	SO:0001583	missense	23498			Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.343G>A	2.37:g.43010461C>T	ENSP00000294973:p.Gly115Arg			Missense_Mutation	SNP	ENST00000294973.6	37	CCDS33187.1	.	.	.	.	.	.	.	.	.	.	C	5.313	0.243079	0.10077	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.29917	1.55;1.55	4.69	4.69	0.59074	Cupin, RmlC-type (1);	0.069118	0.64402	D	0.000016	T	0.45677	0.1354	L	0.46741	1.465	0.53688	D	0.999972	D	0.89917	1.0	D	0.83275	0.996	T	0.14643	-1.0465	10	0.27082	T	0.32	.	12.9987	0.58662	0.0:1.0:0.0:0.0	.	115	P46952	3HAO_HUMAN	R	115;81	ENSP00000294973:G115R;ENSP00000412601:G81R	ENSP00000294973:G115R	G	-	1	0	HAAO	42863965	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	3.980000	0.56895	2.457000	0.83068	0.460000	0.39030	GGG		0.582	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2			T	43010461	C	T	43010461	3	4	228	1	0	0	0	0	1	0	0	0	6939	594	21	2	545	2	HAAO	2	43010461	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	85518	43010461	200188912	11	13759											
CNTNAP5	129684	broad.mit.edu	37	2	125555791	125555791	+	Silent	SNP	C	C	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:125555791C>G	ENST00000431078.1	+	19	3472	c.3108C>G	c.(3106-3108)tcC>tcG	p.S1036S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1036	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGCTCCATCCAAGGAAAACA	0.448																																																0													157	150	152					2																	125555791		1962	4149	6111	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3108C>G	2.37:g.125555791C>G			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.448	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			G	125555791	C	G	125555791	2	3	228	1	0	0	0	0	0	0	0	1	3652	581	21	4		4	CNTNAP5	2	125555791	Silent	SNP	C	TCGA-B0-5712-01A-11D-1669-08	82545330	125555791	117643582	12	13760											
TTN	7273	broad.mit.edu	37	2	179467028	179467028	+	Silent	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:179467028G>T	ENST00000591111.1	-	233	50402	c.50178C>A	c.(50176-50178)atC>atA	p.I16726I	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.I9302I|TTN_ENST00000342992.6_Silent_p.I15799I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.I9494I|TTN_ENST00000359218.5_Silent_p.I9427I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.I18367I			Q8WZ42	TITIN_HUMAN	titin	16726	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTGGCAGGGATCTCCCCAG	0.368																																																0													105	105	105					2																	179467028		1880	4099	5979	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50178C>A	2.37:g.179467028G>T			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179467028	G	T	179467028	2	4	228	1	0	0	0	0	0	0	0	1	16740	1164	41	4		4	TTN	2	179467028	Silent	SNP	G	TCGA-B0-5712-01A-11D-1669-08	53911237	179467028	63732345	13	13761											
ALS2CR11	151254	broad.mit.edu	37	2	202430518	202430518	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:202430518G>A	ENST00000286195.3	-	9	955	c.911C>T	c.(910-912)gCt>gTt	p.A304V	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.A304V|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.A304V|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.A304V	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	304										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GGATTGCACAGCTGGAGTCCC	0.378																																																0													73	73	73					2																	202430518		2203	4300	6503	SO:0001583	missense	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.911C>T	2.37:g.202430518G>A	ENSP00000286195:p.Ala304Val		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218683	0.58560	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.38	-2.34	0.06704	.	3.336220	0.00802	N	0.001427	T	0.33933	0.0880	L	0.50333	1.59	0.09310	N	1	B;B;P	0.43352	0.063;0.063;0.804	B;B;B	0.31869	0.037;0.025;0.137	T	0.48980	-0.8986	10	0.44086	T	0.13	.	9.8346	0.40963	0.0:0.1181:0.3036:0.5784	.	304;304;304	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	V	304	ENSP00000286195:A304V;ENSP00000400672:A304V;ENSP00000409937:A304V;ENSP00000399016:A304V	ENSP00000286195:A304V	A	-	2	0	ALS2CR11	202138763	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.160000	0.10041	-0.074000	0.12820	0.655000	0.94253	GCT		0.378	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		A	202430518	G	A	202430518	3	1	228	1	0	0	0	0	1	0	0	0	552	971	34	2	4730	2	ALS2CR11	2	202430518	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08	22963490	202430518	40768855	14	13762											
COL6A3	1293	broad.mit.edu	37	2	238287851	238287851	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:238287851A>C	ENST00000295550.4	-	6	2377	c.1925T>G	c.(1924-1926)tTt>tGt	p.F642C	COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.F436C|COL6A3_ENST00000347401.3_Missense_Mutation_p.F441C|COL6A3_ENST00000392003.2_Missense_Mutation_p.F235C|COL6A3_ENST00000392004.3_Missense_Mutation_p.F436C|COL6A3_ENST00000353578.4_Missense_Mutation_p.F436C|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	642	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATCCAAAAGAAAGATGATATC	0.393																																																0													59	59	59					2																	238287851		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1925T>G	2.37:g.238287851A>C	ENSP00000295550:p.Phe642Cys		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292704	0.80914	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.52	5.52	0.82312	von Willebrand factor, type A (3);	0.000000	0.49916	U	0.000138	D	0.95981	0.8691	H	0.97659	4.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97546	1.0089	10	0.87932	D	0	.	15.6766	0.77332	1.0:0.0:0.0:0.0	.	235;436;436;642	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	C	642;441;436;436;436;235	ENSP00000295550:F642C;ENSP00000315609:F441C;ENSP00000315873:F436C;ENSP00000386844:F436C;ENSP00000375861:F436C;ENSP00000375860:F235C	ENSP00000295550:F642C	F	-	2	0	COL6A3	237952590	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	9.262000	0.95591	2.099000	0.63709	0.533000	0.62120	TTT		0.393	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238287851	A	C	238287851	3	2	228	1	0	0	0	0	1	0	0	0	3703	14	1	5	7811	5	COL6A3	2	238287851	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	35857333	238287851	4911522	15	13763											
ASB1	51665	broad.mit.edu	37	2	239353298	239353298	+	Silent	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:239353298G>A	ENST00000264607.4	+	4	1057	c.810G>A	c.(808-810)tcG>tcA	p.S270S	ASB1_ENST00000409297.1_Silent_p.S169S	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	270					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		AGTGGGAATCGCTGGGCCCAG	0.542																																																0													76	83	81					2																	239353298		2203	4300	6503	SO:0001819	synonymous_variant	51665			AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"Ankyrin repeat domain containing"	16011	protein-coding gene	gene with protein product		605758	"ankyrin repeat and SOCS box-containing 1"				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.810G>A	2.37:g.239353298G>A			A6NL50|Q4ZG29|Q9ULS4	Silent	SNP	ENST00000264607.4	37	CCDS33416.1																																																																																				0.542	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		A	239353298	G	A	239353298	2	1	228	1	0	0	0	0	0	0	0	1	1013	1074	38	1		1	ASB1	2	239353298	Silent	SNP	G	TCGA-B0-5712-01A-11D-1669-08	1065447	239353298	3846075	16	13764											
KIF1A	547	broad.mit.edu	37	2	241706374	241706374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:241706374C>A	ENST00000320389.7	-	18	1773	c.1615G>T	c.(1615-1617)Gag>Tag	p.E539*	KIF1A_ENST00000498729.2_Nonsense_Mutation_p.E548*	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	539	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.E539K(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACGCAGTGCTCCTCCTTGATG	0.652																																																1	Substitution - Missense(1)	NS(1)											41	47	45					2																	241706374		2157	4243	6400	SO:0001587	stop_gained	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1615G>T	2.37:g.241706374C>A	ENSP00000322791:p.Glu539*		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Nonsense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	41	8.875809	0.98986	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.	.	.	3.78	2.88	0.33553	.	0.314863	0.31438	U	0.007652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.7938	0.52084	0.0:0.9103:0.0:0.0897	.	.	.	.	X	539;548;548;548	.	ENSP00000322791:E539X	E	-	1	0	KIF1A	241355047	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.866000	0.69590	0.711000	0.32018	0.298000	0.19748	GAG		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		A	241706374	C	A	241706374	4	1	228	1	0	0	0	0	0	1	0	0	8285	864	30	4	3577	4	KIF1A	2	241706374	Nonsense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	2353076	241706374	1492999	17	13765											
PBRM1	55193	broad.mit.edu	37	3	52651547	52651548	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr3:52651547_52651548delTC	ENST00000296302.7	-	14	1549_1550	c.1548_1549delGA	c.(1546-1551)aagaacfs	p.N517fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.N485fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N532fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N517fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N532fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N517fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N517fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N517fs			Q86U86	PB1_HUMAN	polybromo 1	517					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTCTTATGTTCTTTTTACTGT	0.351			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1548_1549delGA	3.37:g.52651547_52651548delTC	ENSP00000296302:p.Asn517fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.351	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52651548	TC	-	52651547	7	5	228	1	0	1	0	1	0	0	0	0	11493	1783	62	0	3419	0	PBRM1	3	52651547	Frame_Shift_Del	DEL	TC	TCGA-B0-5712-01A-11D-1669-08		52651547	145370883	18	13766											
HEG1	57493	broad.mit.edu	37	3	124738166	124738166	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr3:124738166A>G	ENST00000311127.4	-	5	1595	c.1528T>C	c.(1528-1530)Tct>Cct	p.S510P	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	510	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTAGATGAAGACTCTGAATAA	0.463																																																0													134	134	134					3																	124738166		2025	4193	6218	SO:0001583	missense	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1528T>C	3.37:g.124738166A>G	ENSP00000311502:p.Ser510Pro		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803796	0.31869	.	.	ENSG00000173706	ENST00000311127	D	0.90732	-2.72	5.13	1.24	0.21308	.	.	.	.	.	D	0.85630	0.5741	N	0.05383	-0.06	0.24998	N	0.991484	D;D	0.67145	0.996;0.994	P;P	0.62382	0.901;0.694	T	0.75513	-0.3291	9	0.28530	T	0.3	.	5.9197	0.19076	0.5041:0.3351:0.0:0.1608	.	510;510	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	P	510	ENSP00000311502:S510P	ENSP00000311502:S510P	S	-	1	0	HEG1	126220856	0.100000	0.21855	0.898000	0.35279	0.345000	0.29048	0.634000	0.24614	0.060000	0.16281	0.528000	0.53228	TCT		0.463	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		G	124738166	A	G	124738166	3	3	228	1	0	0	0	0	1	0	0	0	7046	275	10	3	2669	3	HEG1	3	124738166	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	72086619	124738166	73284264	19	13767											
TFRC	7037	broad.mit.edu	37	3	195794940	195794941	+	In_Frame_Ins	INS	-	-	ATT			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr3:195794940_195794941insATT	ENST00000360110.4	-	8	1031_1032	c.862_863insAAT	c.(862-864)ttt>tAATtt	p.287_288ins*	TFRC_ENST00000420415.1_In_Frame_Ins_p.206_207ins*|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_In_Frame_Ins_p.5_6ins*|TFRC_ENST00000392396.3_In_Frame_Ins_p.287_288ins*	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	287	PA.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	AACAATGGGAAATTTAGTCTGG	0.347			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	0																																										SO:0001652	inframe_insertion	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.860_862dupAAT	3.37:g.195794941_195794943dupATT	ENSP00000353224:p.Phe288*		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	In_Frame_Ins	INS	ENST00000360110.4	37	CCDS3312.1																																																																																				0.347	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			ATT	195794941	-	ATT	195794940	7	5	228	1	0	1	1	0	0	0	0	0	15817	14	1	0	1467	0	TFRC	3	195794940	In_Frame_Ins	INS	-	TCGA-B0-5712-01A-11D-1669-08	71056774	195794940	2227490	20	13768											
C6	729	broad.mit.edu	37	5	41186209	41186209	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:41186209T>G	ENST00000263413.3	-	6	953	c.689A>C	c.(688-690)tAc>tCc	p.Y230S	C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Missense_Mutation_p.Y230S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	230	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CGGAACACGGTATGGATTACT	0.438																																																0													137	125	129					5																	41186209		2203	4300	6503	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.689A>C	5.37:g.41186209T>G	ENSP00000263413:p.Tyr230Ser			Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.917153	0.73098	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.63913	-0.07;-0.07	5.99	4.81	0.61882	Membrane attack complex component/perforin (MACPF) domain (1);	0.165890	0.56097	D	0.000036	T	0.75250	0.3824	M	0.83483	2.645	0.45354	D	0.998345	D	0.58620	0.983	P	0.56823	0.807	T	0.78094	-0.2338	10	0.72032	D	0.01	-6.9676	11.1527	0.48469	0.245:0.0:0.0:0.755	.	230	P13671	CO6_HUMAN	S	230	ENSP00000338861:Y230S;ENSP00000263413:Y230S	ENSP00000263413:Y230S	Y	-	2	0	C6	41221966	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	1.471000	0.35365	1.048000	0.40298	0.533000	0.62120	TAC		0.438	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			G	41186209	T	G	41186209	3	3	228	1	0	0	0	0	1	0	0	0	2317	1638	57	5	2167	5	C6	5	41186209	Missense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08		41186209	139729051	21	13769											
MAP3K1	4214	broad.mit.edu	37	5	56184111	56184111	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:56184111T>G	ENST00000399503.3	+	19	4316	c.4316T>G	c.(4315-4317)aTt>aGt	p.I1439S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1439	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGCTGTGCTATTATAGAAATG	0.348																																																0													149	143	145					5																	56184111		1889	4121	6010	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4316T>G	5.37:g.56184111T>G	ENSP00000382423:p.Ile1439Ser			Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369018	0.82463	.	.	ENSG00000095015	ENST00000399503	T	0.25749	1.78	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053898	0.64402	D	0.000001	T	0.32615	0.0835	L	0.48986	1.54	0.54753	D	0.99998	P	0.47191	0.891	P	0.45829	0.494	T	0.07271	-1.0781	10	0.87932	D	0	.	16.1132	0.81278	0.0:0.0:0.0:1.0	.	1439	Q13233	M3K1_HUMAN	S	1439	ENSP00000382423:I1439S	ENSP00000382423:I1439S	I	+	2	0	MAP3K1	56219868	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.998000	0.76277	2.208000	0.71279	0.455000	0.32223	ATT		0.348	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		G	56184111	T	G	56184111	3	3	228	1	0	0	0	0	1	0	0	0	9245	1493	52	5	4390	5	MAP3K1	5	56184111	Missense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08	14997902	56184111	124731149	22	13770											
RASGRF2	5924	broad.mit.edu	37	5	80381640	80381640	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:80381640delC	ENST00000265080.4	+	8	1248	c.1181delC	c.(1180-1182)acafs	p.T394fs	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	394	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TATATCATCACACTCCATGAG	0.502																																																0													129	125	127					5																	80381640		2203	4300	6503	SO:0001589	frameshift_variant	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1181delC	5.37:g.80381640delC	ENSP00000265080:p.Thr394fs		B9EG89|Q9UK56	Frame_Shift_Del	DEL	ENST00000265080.4	37	CCDS4052.1																																																																																				0.502	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		-	80381640	C	-	80381640	7	5	228	1	0	1	0	1	0	0	0	0	13079	478	17	0	1211	0	RASGRF2	5	80381640	Frame_Shift_Del	DEL	C	TCGA-B0-5712-01A-11D-1669-08	24197529	80381640	100533620	23	13771											
MCTP1	79772	broad.mit.edu	37	5	94207041	94207041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:94207041delT	ENST00000515393.1	-	14	2117	c.2118delA	c.(2116-2118)aaafs	p.K706fs	MCTP1_ENST00000505078.1_Frame_Shift_Del_p.K222fs|MCTP1_ENST00000312216.8_Frame_Shift_Del_p.K485fs|MCTP1_ENST00000505208.1_Frame_Shift_Del_p.K485fs|MCTP1_ENST00000429576.2_Frame_Shift_Del_p.K439fs	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	706	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTATAGCAACTTTGCCCAGAA	0.358																																																0													96	90	92					5																	94207041		2203	4300	6503	SO:0001589	frameshift_variant	79772				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2118delA	5.37:g.94207041delT	ENSP00000424126:p.Lys706fs		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Frame_Shift_Del	DEL	ENST00000515393.1	37	CCDS34203.1																																																																																				0.358	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		-	94207041	T	-	94207041	7	5	228	1	0	1	0	1	0	0	0	0	9402	1606	56	0	921	0	MCTP1	5	94207041	Frame_Shift_Del	DEL	T	TCGA-B0-5712-01A-11D-1669-08	13825401	94207041	86708219	24	13772											
SLC23A1	9963	broad.mit.edu	37	5	138707769	138707769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:138707769delA	ENST00000348729.3	-	14	1769	c.1723delT	c.(1723-1725)tcafs	p.S575fs	CTB-43P18.1_ENST00000503553.3_RNA|SLC23A1_ENST00000353963.3_Frame_Shift_Del_p.S579fs	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	575					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TGATCTTTTGAACTTGAAGAA	0.398																																																0													156	155	155					5																	138707769		2203	4300	6503	SO:0001589	frameshift_variant	9963			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1723delT	5.37:g.138707769delA	ENSP00000302701:p.Ser575fs		O95191|Q8WWB6|Q9UGH4|Q9UI39	Frame_Shift_Del	DEL	ENST00000348729.3	37	CCDS4212.1																																																																																				0.398	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		-	138707769	A	-	138707769	7	5	228	1	0	1	0	1	0	0	0	0	14468	246	9	0	77	0	SLC23A1	5	138707769	Frame_Shift_Del	DEL	A	TCGA-B0-5712-01A-11D-1669-08	44500728	138707769	42207491	25	13773											
DIAPH1	1729	broad.mit.edu	37	5	140896574	140896574	+	Splice_Site	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:140896574G>T	ENST00000398557.4	-	28	3803	c.3663C>A	c.(3661-3663)gcC>gcA	p.A1221A	DIAPH1_ENST00000389057.5_Splice_Site_p.A1212A|DIAPH1_ENST00000398562.2_Splice_Site_p.A1197A|DIAPH1_ENST00000389054.3_Splice_Site_p.A1218A|DIAPH1_ENST00000253811.6_Splice_Site_p.A1222A|DIAPH1_ENST00000520569.1_Splice_Site_p.A1164A|DIAPH1_ENST00000518047.1_Splice_Site_p.A1209A|DIAPH1_ENST00000398566.3_Splice_Site_p.A1213A	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1221	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCCTGTTGGCTGCAAGAG	0.498																																																0													58	56	56					5																	140896574		2003	4171	6174	SO:0001630	splice_region_variant	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3662-1C>A	5.37:g.140896574G>T			A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Splice_Site	SNP	ENST00000398557.4	37	CCDS43374.1																																																																																				0.498	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	Silent	T	140896574	G	T	140896574	5	4	228	1	0	0	0	0	0	0	1	0	4520	1362	47	4	159	4	DIAPH1	5	140896574	Splice_Site	SNP	G	TCGA-B0-5712-01A-11D-1669-08	2188805	140896574	40018686	26	13774											
RBM22	55696	broad.mit.edu	37	5	150071443	150071443	+	Splice_Site	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:150071443C>A	ENST00000199814.4	-	11	1254	c.1133G>T	c.(1132-1134)gGt>gTt	p.G378V	RBM22_ENST00000540000.1_Splice_Site_p.G329V|RBM22_ENST00000447771.2_Splice_Site_p.G329V	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	378	Pro-rich.				cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCCAAAACCTGCAGATAC	0.483																																																0													118	115	116					5																	150071443		2203	4300	6503	SO:0001630	splice_region_variant	55696			AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	25503	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 47"	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.1133-1G>T	5.37:g.150071443C>A			A6NDM5|B4DLI9|O95607	Splice_Site	SNP	ENST00000199814.4	37	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564337	0.45694	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	.	.	.	5.68	5.68	0.88126	.	0.049596	0.85682	D	0.000000	T	0.39410	0.1077	L	0.46157	1.445	0.80722	D	1	P	0.37038	0.579	B	0.26864	0.074	T	0.24764	-1.0151	9	0.15066	T	0.55	.	13.0508	0.58954	0.0:0.9267:0.0:0.0733	.	378	Q9NW64	RBM22_HUMAN	V	378;329;329	.	ENSP00000199814:G378V	G	-	2	0	RBM22	150051636	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	5.731000	0.68554	2.702000	0.92279	0.655000	0.94253	GGT		0.483	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047	Missense_Mutation	A	150071443	C	A	150071443	5	1	228	1	0	0	0	0	0	0	1	0	13128	521	18	4	133	4	RBM22	5	150071443	Splice_Site	SNP	C	TCGA-B0-5712-01A-11D-1669-08	9174869	150071443	30843817	27	13775											
TBC1D9B	23061	broad.mit.edu	37	5	179291015	179291015	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:179291015delT	ENST00000356834.3	-	22	3223	c.3186delA	c.(3184-3186)ggafs	p.G1062fs	TBC1D9B_ENST00000444477.2_Frame_Shift_Del_p.G203fs|TBC1D9B_ENST00000519746.1_Frame_Shift_Del_p.G221fs|TBC1D9B_ENST00000355235.3_Frame_Shift_Del_p.G1045fs|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1062						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCACCTCTCCGATGCGGA	0.617																																																0													57	45	49					5																	179291015		2203	4300	6503	SO:0001589	frameshift_variant	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3186delA	5.37:g.179291015delT	ENSP00000349291:p.Gly1062fs		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Frame_Shift_Del	DEL	ENST00000356834.3	37	CCDS43408.1																																																																																				0.617	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		-	179291015	T	-	179291015	7	5	228	1	0	1	0	1	0	0	0	0	15633	1538	54	0	570	0	TBC1D9B	5	179291015	Frame_Shift_Del	DEL	T	TCGA-B0-5712-01A-11D-1669-08	29219572	179291015	1624245	28	13776											
OR2J2	26707	broad.mit.edu	37	6	29141716	29141716	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr6:29141716C>A	ENST00000377167.2	+	1	406	c.304C>A	c.(304-306)Ctt>Att	p.L102I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CATGGTTCAACTTTACTTTGT	0.473																																																0													238	217	224					6																	29141716		2043	4186	6229	SO:0001583	missense	26707				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.304C>A	6.37:g.29141716C>A	ENSP00000366372:p.Leu102Ile		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761860	0.31228	.	.	ENSG00000204700	ENST00000377167	T	0.00340	8.04	2.3	0.0186	0.14117	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	M	0.65975	2.015	0.20821	N	0.999845	D	0.76494	0.999	D	0.83275	0.996	T	0.49399	-0.8944	9	0.56958	D	0.05	.	0.8363	0.01140	0.3467:0.3198:0.1838:0.1497	.	102	O76002	OR2J2_HUMAN	I	102	ENSP00000366372:L102I	ENSP00000366372:L102I	L	+	1	0	OR2J2	29249695	0.000000	0.05858	0.968000	0.41197	0.376000	0.30014	-1.737000	0.01843	0.280000	0.22209	0.205000	0.17691	CTT		0.473	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			A	29141716	C	A	29141716	3	1	228	1	0	0	0	0	1	0	0	0	11005	565	20	4	306	4	OR2J2	6	29141716	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08		29141716	141973351	29	13777											
ZNF318	24149	broad.mit.edu	37	6	43316104	43316104	+	Silent	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr6:43316104G>A	ENST00000361428.2	-	6	3107	c.3030C>T	c.(3028-3030)agC>agT	p.S1010S	ZNF318_ENST00000318149.3_Silent_p.S1010S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1010					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTTTTCTGGGCTCTTAGATT	0.393																																																0													213	218	216					6																	43316104		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3030C>T	6.37:g.43316104G>A			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	CCDS4895.2																																																																																				0.393	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		A	43316104	G	A	43316104	2	1	228	1	0	0	0	0	0	0	0	1	17841	1194	42	2		2	ZNF318	6	43316104	Silent	SNP	G	TCGA-B0-5712-01A-11D-1669-08	14174388	43316104	127798963	30	13778											
BAI3	577	broad.mit.edu	37	6	70071056	70071056	+	Silent	SNP	C	C	A	rs367545953		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr6:70071056C>A	ENST00000370598.1	+	29	4712	c.3891C>A	c.(3889-3891)gtC>gtA	p.V1297V	BAI3_ENST00000238918.8_Silent_p.V503V|BAI3_ENST00000546190.1_Silent_p.V261V	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1297					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGACATAGTCCATCCTCAAG	0.368																																																0													72	70	71					6																	70071056		2203	4298	6501	SO:0001819	synonymous_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3891C>A	6.37:g.70071056C>A			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			A	70071056	C	A	70071056	2	1	228	1	0	0	0	0	0	0	0	1	1300	842	30	4		4	BAI3	6	70071056	Silent	SNP	C	TCGA-B0-5712-01A-11D-1669-08	26754952	70071056	101044011	31	13779											
IL20RA	53832	broad.mit.edu	37	6	137322979	137322979	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr6:137322979delG	ENST00000316649.5	-	7	1613	c.1378delC	c.(1378-1380)ctgfs	p.L460fs	IL20RA_ENST00000468393.1_5'Flank|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000541547.1_Frame_Shift_Del_p.L411fs|IL20RA_ENST00000367748.1_Frame_Shift_Del_p.L349fs	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	460					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TCCTGCGCCAGGGGGTCTAAG	0.587																																																0													72	71	71					6																	137322979		2203	4300	6503	SO:0001589	frameshift_variant	53832			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"Interleukins and interleukin receptors"	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1378delC	6.37:g.137322979delG	ENSP00000314976:p.Leu460fs		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Frame_Shift_Del	DEL	ENST00000316649.5	37	CCDS5181.1																																																																																				0.587	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		-	137322979	G	-	137322979	7	5	228	1	0	1	0	1	0	0	0	0	7670	991	35	0	287	0	IL20RA	6	137322979	Frame_Shift_Del	DEL	G	TCGA-B0-5712-01A-11D-1669-08	67251923	137322979	33792088	32	13780											
SYNE1	23345	broad.mit.edu	37	6	152557402	152557402	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr6:152557402A>C	ENST00000367255.5	-	110	20837	c.20236T>G	c.(20236-20238)Tta>Gta	p.L6746V	SYNE1_ENST00000356820.4_Missense_Mutation_p.L1270V|SYNE1_ENST00000448038.1_Missense_Mutation_p.L6675V|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6358V|SYNE1_ENST00000423061.1_Missense_Mutation_p.L6675V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L6746V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6746					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTGATATAATTTGGGCTGG	0.313										HNSCC(10;0.0054)																																						0													94	91	92					6																	152557402		2202	4300	6502	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20236T>G	6.37:g.152557402A>C	ENSP00000356224:p.Leu6746Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578896	0.65878	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.76	2.06	0.26882	.	0.000000	0.46145	D	0.000305	T	0.41880	0.1178	M	0.69185	2.1	0.45690	D	0.998603	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.39643	-0.9604	10	0.72032	D	0.01	.	8.9744	0.35926	0.6273:0.0:0.3727:0.0	.	6746;6746;6675	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	V	6746;6675;6746;6675;6358;1270	ENSP00000356224:L6746V;ENSP00000396024:L6675V;ENSP00000265368:L6746V;ENSP00000390975:L6675V;ENSP00000341887:L6358V;ENSP00000349276:L1270V	ENSP00000265368:L6746V	L	-	1	2	SYNE1	152599095	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.356000	0.34079	0.118000	0.18165	0.533000	0.62120	TTA		0.313	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152557402	A	C	152557402	3	2	228	1	0	0	0	0	1	0	0	0	15450	98	4	5	6378	5	SYNE1	6	152557402	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	15234423	152557402	18557665	33	13781											
COX19	90639	broad.mit.edu	37	7	1009028	1009028	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:1009028C>T	ENST00000344111.3	-	3	348	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	87						cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TTTTTTGCCTCTGATTTTCCA	0.473																																																0													260	298	285					7																	1009028		2203	4300	6503	SO:0001583	missense	90639			AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"Mitochondrial respiratory chain complex assembly factors"	28074	protein-coding gene	gene with protein product		610429	"COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.259G>A	7.37:g.1009028C>T	ENSP00000342015:p.Glu87Lys		A4FTX0	Missense_Mutation	SNP	ENST00000344111.3	37	CCDS34582.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627693	0.28978	.	.	ENSG00000240230	ENST00000344111	.	.	.	4.17	1.33	0.21861	.	0.750110	0.12483	N	0.464960	T	0.27241	0.0668	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18903	-1.0322	8	0.33141	T	0.24	-15.1395	7.9476	0.29995	0.0:0.7252:0.0:0.2748	.	87	Q49B96	COX19_HUMAN	K	87	.	ENSP00000342015:E87K	E	-	1	0	COX19	975554	1.000000	0.71417	0.002000	0.10522	0.869000	0.49853	1.726000	0.38085	0.149000	0.19098	0.555000	0.69702	GAG		0.473	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322812.1	NM_001031617		T	1009028	C	T	1009028	3	4	228	1	0	0	0	0	1	0	0	0	3770	922	32	2	17	2	COX19	7	1009028	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08		1009028	158129635	34	13782											
AKAP9	10142	broad.mit.edu	37	7	91722412	91722412	+	Splice_Site	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:91722412A>G	ENST00000359028.2	+	39	9597	c.9372A>G	c.(9370-9372)gaA>gaG	p.E3124E	AKAP9_ENST00000356239.3_Splice_Site_p.E3120E|AKAP9_ENST00000358100.2_Splice_Site_p.E3070E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3124					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTGTGTAGAACTCTTGGAAT	0.358			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													35	38	37					7																	91722412		2203	4300	6503	SO:0001630	splice_region_variant	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9371-1A>G	7.37:g.91722412A>G			A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37																																																																																					0.358	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Silent	G	91722412	A	G	91722412	5	3	228	1	0	0	0	0	0	0	1	0	459	57	2	3	9514	3	AKAP9	7	91722412	Splice_Site	SNP	A	TCGA-B0-5712-01A-11D-1669-08	90713384	91722412	67416251	35	13783											
COL1A2	1278	broad.mit.edu	37	7	94029506	94029506	+	Splice_Site	SNP	A	A	T	rs113180440		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:94029506A>T	ENST00000297268.6	+	5	603		c.e5-1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTTACATAACAGGGTCCACCA	0.532										HNSCC(75;0.22)																																						0													82	85	84					7																	94029506		2203	4300	6503	SO:0001630	splice_region_variant	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.133-1A>T	7.37:g.94029506A>T			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756548	0.69648	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9619	0.79936	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL1A2	93867442	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	8.653000	0.91088	2.308000	0.77769	0.533000	0.62120	.		0.532	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	Intron	T	94029506	A	T	94029506	5	4	228	1	0	0	0	0	0	0	1	0	3680	202	7	5	149	5	COL1A2	7	94029506	Splice_Site	SNP	A	TCGA-B0-5712-01A-11D-1669-08	2307094	94029506	65109157	36	13784											
ZAN	7455	broad.mit.edu	37	7	100352939	100352939	+	RNA	DEL	A	A	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:100352939delA	ENST00000348028.3	+	0	3380				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCTGTCGGGAGGGCTGTGTC	0.557																																																0													119	124	122					7																	100352939		1929	4133	6062			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352939delA			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																					0.557	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		-	100352939	A	-	100352939	6	5	228	0	1	1	0	1	0	0	0	0	17518	304	11	0		0	ZAN	7	100352939	RNA	DEL	A	TCGA-B0-5712-01A-11D-1669-08	6323433	100352939	58785724	37	13785											
MYL10	93408	broad.mit.edu	37	7	101265479	101265479	+	Splice_Site	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:101265479G>T	ENST00000223167.4	-	5	528	c.351C>A	c.(349-351)ggC>ggA	p.G117G		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	117	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CATTGATGCGGCCTGTGGGAG	0.597																																					Esophageal Squamous(24;575 709 17516 40384 51639)											0													73	61	65					7																	101265479		2203	4300	6503	SO:0001630	splice_region_variant	93408			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.350-1C>A	7.37:g.101265479G>T				Splice_Site	SNP	ENST00000223167.4	37	CCDS34713.1																																																																																				0.597	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403	Silent	T	101265479	G	T	101265479	5	4	228	1	0	0	0	0	0	0	1	0	10046	1217	42	4	345	4	MYL10	7	101265479	Splice_Site	SNP	G	TCGA-B0-5712-01A-11D-1669-08	912540	101265479	57873184	38	13786											
TBXAS1	6916	broad.mit.edu	37	7	139611072	139611072	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:139611072G>A	ENST00000455353.1	+	4	422	c.285G>A	c.(283-285)atG>atA	p.M95I	TBXAS1_ENST00000336425.5_Missense_Mutation_p.M95I|TBXAS1_ENST00000263552.6_Missense_Mutation_p.M96I|TBXAS1_ENST00000416849.2_Missense_Mutation_p.M96I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.M96I|TBXAS1_ENST00000448866.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000425687.1_Missense_Mutation_p.M28I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000458722.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000539806.1_Missense_Mutation_p.M96I|TBXAS1_ENST00000436047.2_Missense_Mutation_p.M96I			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	95					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	AGCCAGACATGATCAAGCAGG	0.393																																																0													270	241	251					7																	139611072		2203	4300	6503	SO:0001583	missense	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.285G>A	7.37:g.139611072G>A	ENSP00000391567:p.Met95Ile		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37		.	.	.	.	.	.	.	.	.	.	G	14.47	2.545676	0.45280	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.79	4.89	0.63831	.	0.162599	0.64402	D	0.000003	T	0.70859	0.3272	L	0.52011	1.625	0.49130	D	0.999751	B;P;D;B;P;B;B;B	0.56287	0.041;0.793;0.975;0.091;0.94;0.451;0.232;0.232	B;P;P;B;P;B;B;B	0.58660	0.089;0.683;0.843;0.07;0.546;0.38;0.07;0.07	T	0.66567	-0.5891	10	0.11485	T	0.65	.	13.8946	0.63764	0.0:0.1528:0.8472:0.0	.	96;76;96;47;28;96;96;95	B7Z6W1;B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;.;THAS_HUMAN	I	28;96;95;95;96;96;96;95;95;95;95;96	ENSP00000388736:M28I;ENSP00000263552:M96I;ENSP00000388612:M95I;ENSP00000338087:M95I;ENSP00000389414:M96I;ENSP00000392361:M96I;ENSP00000392702:M96I;ENSP00000402536:M95I;ENSP00000391567:M95I;ENSP00000411274:M95I;ENSP00000411326:M95I;ENSP00000444626:M96I	ENSP00000263552:M96I	M	+	3	0	TBXAS1	139257541	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.059000	0.64306	1.401000	0.46761	0.491000	0.48974	ATG		0.393	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			A	139611072	G	A	139611072	3	1	228	1	0	0	0	0	1	0	0	0	15669	1290	45	2	302	2	TBXAS1	7	139611072	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08	38345593	139611072	19527591	39	13787											
WDR60	55112	broad.mit.edu	37	7	158705779	158705779	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:158705779T>A	ENST00000407559.3	+	13	1852	c.1694T>A	c.(1693-1695)gTa>gAa	p.V565E		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	565					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGTACTGTTGTATCTGGAGGT	0.388																																																0													106	114	112					7																	158705779		1891	4106	5997	SO:0001583	missense	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1694T>A	7.37:g.158705779T>A	ENSP00000384290:p.Val565Glu		Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210642	0.39102	.	.	ENSG00000126870	ENST00000407559	T	0.80824	-1.42	5.42	5.42	0.78866	.	0.067239	0.64402	D	0.000013	D	0.85444	0.5698	M	0.74881	2.28	0.46478	D	0.99906	D;D	0.65815	0.972;0.995	P;P	0.58577	0.706;0.841	D	0.86162	0.1594	10	0.56958	D	0.05	-23.8124	8.059	0.30623	0.0:0.0899:0.0:0.9101	.	48;565	A4D230;Q8WVS4	.;WDR60_HUMAN	E	565	ENSP00000384290:V565E	ENSP00000384290:V565E	V	+	2	0	WDR60	158398540	1.000000	0.71417	0.342000	0.25602	0.007000	0.05969	3.017000	0.49615	2.050000	0.60909	0.460000	0.39030	GTA		0.388	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		A	158705779	T	A	158705779	3	1	228	1	0	0	0	0	1	0	0	0	17316	1638	57	5	1744	5	WDR60	7	158705779	Missense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08	19094707	158705779	432884	40	13788											
MOS	4342	broad.mit.edu	37	8	57025710	57025710	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr8:57025710G>A	ENST00000311923.1	-	1	831	c.832C>T	c.(832-834)Ccg>Tcg	p.P278S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CCCGAATACGGCGCCTGCTTG	0.637																																					Esophageal Squamous(124;373 2870 4778)											0													47	46	46					8																	57025710		2203	4300	6503	SO:0001583	missense	4342				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.832C>T	8.37:g.57025710G>A	ENSP00000310722:p.Pro278Ser		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718881	0.68844	.	.	ENSG00000172680	ENST00000311923	D	0.95949	-3.86	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98337	0.9448	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98816	1.0745	10	0.87932	D	0	.	20.0537	0.97638	0.0:0.0:1.0:0.0	.	278	P00540	MOS_HUMAN	S	278	ENSP00000310722:P278S	ENSP00000310722:P278S	P	-	1	0	MOS	57188264	1.000000	0.71417	0.801000	0.32222	0.127000	0.20565	9.281000	0.95811	2.758000	0.94735	0.561000	0.74099	CCG		0.637	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		A	57025710	G	A	57025710	3	1	228	1	0	0	0	0	1	0	0	0	9714	1203	42	2	211	2	MOS	8	57025710	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08		57025710	89338312	41	13789											
DDX31	64794	broad.mit.edu	37	9	135535153	135535153	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr9:135535153C>G	ENST00000372159.3	-	5	933	c.782G>C	c.(781-783)aGt>aCt	p.S261T	DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.S261T|DDX31_ENST00000438527.3_Missense_Mutation_p.S132T|DDX31_ENST00000372153.1_Missense_Mutation_p.S261T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	261						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CACAGGAATACTTTGCTTCTG	0.488																																																0													88	67	74					9																	135535153		2203	4300	6503	SO:0001583	missense	64794			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.782G>C	9.37:g.135535153C>G	ENSP00000361232:p.Ser261Thr		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291942	0.23564	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	T;T;T;T	0.41400	2.35;1.0;2.35;1.0	5.7	4.8	0.61643	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.081237	0.85682	N	0.000000	T	0.27205	0.0667	N	0.13043	0.29	0.80722	D	1	B;B;B	0.29909	0.22;0.22;0.261	B;B;B	0.32090	0.058;0.095;0.14	T	0.05716	-1.0868	10	0.13853	T	0.58	-13.1369	14.7058	0.69189	0.0:0.5584:0.4416:0.0	.	261;261;261	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	T	261;261;261;132;261	ENSP00000361232:S261T;ENSP00000361226:S261T;ENSP00000387730:S132T;ENSP00000310539:S261T	ENSP00000310539:S261T	S	-	2	0	DDX31	134524974	1.000000	0.71417	0.428000	0.26697	0.988000	0.76386	3.832000	0.55783	1.399000	0.46721	-0.211000	0.12701	AGT		0.488	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		G	135535153	C	G	135535153	3	3	228	1	0	0	0	0	1	0	0	0	4358	565	20	4	1844	4	DDX31	9	135535153	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08		135535153	5678278	42	13790											
WDR5	11091	broad.mit.edu	37	9	137007499	137007499	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr9:137007499T>G	ENST00000358625.3	+	6	570	c.399T>G	c.(397-399)ttT>ttG	p.F133L	WDR5_ENST00000425041.1_Missense_Mutation_p.F133L	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	133		Important for interaction with histone H3.			chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ATTATGTCTTTTGCTGCAACT	0.473																																																0													142	137	139					9																	137007499		2203	4300	6503	SO:0001583	missense	11091			AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"WD repeat domain containing"	12757	protein-coding gene	gene with protein product	"SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)", "cilia and flagella associated protein 89"	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.399T>G	9.37:g.137007499T>G	ENSP00000351446:p.Phe133Leu		Q91VA5|Q9NWX7|Q9UGP9	Missense_Mutation	SNP	ENST00000358625.3	37	CCDS6981.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250326	0.80024	.	.	ENSG00000196363	ENST00000358625;ENST00000425041	T;T	0.58797	0.31;0.31	4.36	-5.83	0.02325	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	N	0.04636	-0.2	0.80722	D	1	P	0.48350	0.909	P	0.51866	0.682	T	0.48822	-0.9001	10	0.36615	T	0.2	.	18.6388	0.91387	0.0:0.8425:0.0:0.1575	.	133	P61964	WDR5_HUMAN	L	133	ENSP00000351446:F133L;ENSP00000401889:F133L	ENSP00000351446:F133L	F	+	3	2	WDR5	135997320	0.938000	0.31826	0.936000	0.37596	0.974000	0.67602	0.040000	0.13905	-1.222000	0.02587	-0.451000	0.05528	TTT		0.473	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		G	137007499	T	G	137007499	3	3	228	1	0	0	0	0	1	0	0	0	17308	1838	64	5	417	5	WDR5	9	137007499	Missense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08	1472346	137007499	4205932	43	13791											
CUBN	8029	broad.mit.edu	37	10	17165680	17165680	+	Silent	SNP	G	G	A	rs553801820		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:17165680G>A	ENST00000377833.4	-	5	461	c.396C>T	c.(394-396)gaC>gaT	p.D132D	CUBN_ENST00000377823.1_Silent_p.D132D	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	132	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACCTTTTTGTCAACAGTCT	0.448																																																0													68	55	60					10																	17165680		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.396C>T	10.37:g.17165680G>A			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	17165680	G	A	17165680	2	1	228	1	0	0	0	0	0	0	0	1	4053	1368	48	2		2	CUBN	10	17165680	Silent	SNP	G	TCGA-B0-5712-01A-11D-1669-08		17165680	118369067	44	13792											
ARMC4	55130	broad.mit.edu	37	10	28149666	28149666	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:28149666C>G	ENST00000305242.5	-	19	3001	c.2909G>C	c.(2908-2910)cGt>cCt	p.R970P	ARMC4_ENST00000537576.1_Missense_Mutation_p.R662P|ARMC4_ENST00000545014.1_Missense_Mutation_p.R495P	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	970					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R970H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTCAGATAACGCACTAGTGG	0.488																																																1	Substitution - Missense(1)	endometrium(1)											202	161	175					10																	28149666		2203	4300	6503	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2909G>C	10.37:g.28149666C>G	ENSP00000306410:p.Arg970Pro		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858636	0.51376	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;T	0.93859	-3.3;-3.3;-0.16	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.319350	0.30085	N	0.010443	D	0.94450	0.8214	M	0.63428	1.95	0.80722	D	1	P;D	0.57899	0.896;0.981	P;P	0.57846	0.677;0.828	D	0.93530	0.6869	10	0.48119	T	0.1	-21.4549	11.1538	0.48476	0.0:0.8567:0.0:0.1433	.	495;970	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	P	662;970;495	ENSP00000443208:R662P;ENSP00000306410:R970P;ENSP00000441076:R495P	ENSP00000306410:R970P	R	-	2	0	ARMC4	28189672	0.395000	0.25254	0.995000	0.50966	0.464000	0.32679	0.887000	0.28254	2.711000	0.92665	0.655000	0.94253	CGT		0.488	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		G	28149666	C	G	28149666	3	3	228	1	0	0	0	0	1	0	0	0	953	536	19	4	233	4	ARMC4	10	28149666	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	10983986	28149666	107385081	45	13793											
ARID5B	84159	broad.mit.edu	37	10	63851371	63851371	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:63851371A>G	ENST00000279873.7	+	10	2559	c.2149A>G	c.(2149-2151)Atc>Gtc	p.I717V	ARID5B_ENST00000309334.5_Missense_Mutation_p.I474V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	717					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACCCCCTTTGATCAGCAAAAA	0.552																																																0													83	85	85					10																	63851371		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2149A>G	10.37:g.63851371A>G	ENSP00000279873:p.Ile717Val		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.046996	0.36085	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.44083	0.94;0.93	5.87	5.87	0.94306	.	0.200162	0.51477	D	0.000089	T	0.36524	0.0970	L	0.50919	1.6	0.46044	D	0.998837	P	0.38020	0.615	B	0.29267	0.1	T	0.19582	-1.0301	10	0.39692	T	0.17	-17.7961	16.2674	0.82597	1.0:0.0:0.0:0.0	.	717	Q14865	ARI5B_HUMAN	V	717;474	ENSP00000279873:I717V;ENSP00000308862:I474V	ENSP00000279873:I717V	I	+	1	0	ARID5B	63521377	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.601000	0.74136	2.242000	0.73789	0.533000	0.62120	ATC		0.552	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		G	63851371	A	G	63851371	3	3	228	1	0	0	0	0	1	0	0	0	922	333	12	3	2187	3	ARID5B	10	63851371	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	35701705	63851371	71683376	46	13794											
ADAMTS14	140766	broad.mit.edu	37	10	72511387	72511387	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:72511387A>G	ENST00000373207.1	+	17	2581	c.2581A>G	c.(2581-2583)Aag>Gag	p.K861E	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.K864E	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	861	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCCCTGCAGCAAGGCCTGTGG	0.622																																																0													51	53	53					10																	72511387		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2581A>G	10.37:g.72511387A>G	ENSP00000362303:p.Lys861Glu		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228815	0.79576	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61510	0.1;0.1	4.38	4.38	0.52667	.	0.060346	0.64402	D	0.000005	T	0.68118	0.2966	M	0.85373	2.75	0.45762	D	0.998653	P;P	0.45078	0.85;0.536	P;P	0.49047	0.599;0.477	T	0.70212	-0.4934	10	0.30854	T	0.27	.	13.4488	0.61158	1.0:0.0:0.0:0.0	.	861;864	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	E	864;861	ENSP00000362304:K864E;ENSP00000362303:K861E	ENSP00000362303:K861E	K	+	1	0	ADAMTS14	72181393	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.655000	0.91098	1.851000	0.53745	0.460000	0.39030	AAG		0.622	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		G	72511387	A	G	72511387	3	3	228	1	0	0	0	0	1	0	0	0	259	131	5	3	2656	3	ADAMTS14	10	72511387	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	8660016	72511387	63023360	47	13795											
EIF5AL1	143244	broad.mit.edu	37	10	81272785	81272785	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:81272785A>G	ENST00000520547.2	+	1	429	c.380A>G	c.(379-381)tAc>tGc	p.Y127C	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	127					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GAGCAGAAGTACGACTGTGGA	0.552																																																0													116	129	125					10																	81272785		2198	4298	6496	SO:0001583	missense	143244				CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 5A pseudogene 1"	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.380A>G	10.37:g.81272785A>G	ENSP00000430706:p.Tyr127Cys			Missense_Mutation	SNP	ENST00000520547.2	37	CCDS53546.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402930	0.42613	.	.	ENSG00000253626	ENST00000520547	T	0.43688	0.94	0.843	0.843	0.18935	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.53351	0.1791	M	0.71036	2.16	0.25618	N	0.986439	D	0.71674	0.998	P	0.60415	0.874	T	0.40683	-0.9550	9	0.87932	D	0	.	5.6445	0.17582	1.0:0.0:0.0:0.0	.	127	Q6IS14	IF5AL_HUMAN	C	127	ENSP00000430706:Y127C	ENSP00000430706:Y127C	Y	+	2	0	EIF5AL1	80942791	0.994000	0.37717	0.368000	0.25939	0.447000	0.32167	0.621000	0.24418	0.311000	0.23014	0.305000	0.20034	TAC		0.552	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048954.4	NM_001099692		G	81272785	A	G	81272785	3	3	228	1	0	0	0	0	1	0	0	0	5045	391	14	3	382	3	EIF5AL1	10	81272785	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	8761398	81272785	54261962	48	13796											
ZDHHC16	84287	broad.mit.edu	37	10	99213413	99213413	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:99213413C>T	ENST00000370854.3	+	6	872	c.683C>T	c.(682-684)gCc>gTc	p.A228V	ZDHHC16_ENST00000393760.1_Missense_Mutation_p.A228V|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A189V|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A228V|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A163V|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A228V	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	228					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GCTTATGCTGCCATTGAGGTG	0.507																																																0													122	104	110					10																	99213413		2203	4300	6503	SO:0001583	missense	84287			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.683C>T	10.37:g.99213413C>T	ENSP00000359891:p.Ala228Val		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	CCDS7460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.31|15.31	2.794266|2.794266	0.50102|0.50102	.|.	.|.	ENSG00000171307|ENSG00000171307	ENST00000370854;ENST00000393760;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086|ENST00000420089;ENST00000417044	T;T;T;T;T;T|.	0.25085|.	1.82;1.82;1.82;1.82;1.82;1.82|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.051755|.	0.85682|.	D|.	0.000000|.	T|T	0.60064|0.60064	0.2240|0.2240	L|L	0.31120|0.31120	0.905|0.905	0.80722|0.80722	D|D	1|1	D;B;P;B;B;B;B|.	0.53462|.	0.96;0.027;0.955;0.097;0.022;0.02;0.027|.	P;B;P;B;B;B;B|.	0.59546|.	0.859;0.038;0.723;0.053;0.01;0.022;0.038|.	T|T	0.51387|0.51387	-0.8712|-0.8712	10|5	0.16896|.	T|.	0.51|.	-25.4196|-25.4196	20.3645|20.3645	0.98876|0.98876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	228;163;203;189;163;228;228|.	B4DNL2;E9PCL9;B1AMU1;Q969W1-3;Q969W1-4;Q969W1-2;Q969W1|.	.;.;.;.;.;.;ZDH16_HUMAN|.	V|S	228;228;228;189;228;163;163|204;170	ENSP00000359891:A228V;ENSP00000377357:A228V;ENSP00000345383:A228V;ENSP00000359879:A228V;ENSP00000304487:A163V;ENSP00000398532:A163V|.	ENSP00000304487:A163V|.	A|P	+|+	2|1	0|0	ZDHHC16|ZDHHC16	99203403|99203403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.453000|7.453000	0.80700|0.80700	2.821000|2.821000	0.97095|0.97095	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.507	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		T	99213413	C	T	99213413	3	4	228	1	0	0	0	0	1	0	0	0	17611	739	26	2	701	2	ZDHHC16	10	99213413	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	17940628	99213413	36321334	49	13797											
CALHM1	255022	broad.mit.edu	37	10	105215351	105215351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:105215351C>A	ENST00000329905.5	-	2	845	c.709G>T	c.(709-711)Gag>Tag	p.E237*	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	237					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TTGGCGTGCTCCGTGCACGTC	0.607																																																0													90	71	78					10																	105215351		2203	4300	6503	SO:0001587	stop_gained	255022			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.709G>T	10.37:g.105215351C>A	ENSP00000329926:p.Glu237*		Q5W091	Nonsense_Mutation	SNP	ENST00000329905.5	37	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	C	37	6.398976	0.97537	.	.	ENSG00000185933	ENST00000329905	.	.	.	5.43	5.43	0.79202	.	0.102802	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-34.116	19.2214	0.93797	0.0:1.0:0.0:0.0	.	.	.	.	X	237	.	ENSP00000329926:E237X	E	-	1	0	CALHM1	105205341	1.000000	0.71417	0.967000	0.41034	0.975000	0.68041	7.332000	0.79203	2.541000	0.85698	0.462000	0.41574	GAG		0.607	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		A	105215351	C	A	105215351	4	1	228	1	0	0	0	0	0	1	0	0	2584	864	30	4	335	4	CALHM1	10	105215351	Nonsense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	6001938	105215351	30319396	50	13798											
IRF7	3665	broad.mit.edu	37	11	614335	614335	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:614335G>T	ENST00000397574.2	-	6	887	c.518C>A	c.(517-519)cCt>cAt	p.P173H	IRF7_ENST00000525445.1_Missense_Mutation_p.P67H|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000348655.6_Missense_Mutation_p.P173H|IRF7_ENST00000397566.1_Missense_Mutation_p.P186H|IRF7_ENST00000397570.1_Missense_Mutation_p.P173H|IRF7_ENST00000330243.5_Missense_Mutation_p.P186H	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	173					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCTGGGGCAGGGAGGGGGCC	0.647																																																0													25	26	25					11																	614335		2196	4296	6492	SO:0001583	missense	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.518C>A	11.37:g.614335G>T	ENSP00000380704:p.Pro173His		B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.964614	0.34659	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D;D	0.96300	-3.09;-3.93;-3.93;-3.96;-3.97;-3.96	2.55	0.472	0.16758	.	422.493000	0.00166	U	0.000000	D	0.95207	0.8446	L	0.29908	0.895	0.09310	N	1	D;B;D;D	0.76494	0.997;0.021;0.998;0.999	P;B;P;D	0.64237	0.737;0.006;0.84;0.923	D	0.87360	0.2343	10	0.15952	T	0.53	-0.0238	3.0053	0.06026	0.1547:0.0:0.3732:0.4721	.	67;173;173;186	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	H	67;173;173;186;173;186	ENSP00000434009:P67H;ENSP00000331803:P173H;ENSP00000380700:P173H;ENSP00000380697:P186H;ENSP00000380704:P173H;ENSP00000329411:P186H	ENSP00000329411:P186H	P	-	2	0	IRF7	604335	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.185000	0.16958	0.108000	0.17862	0.457000	0.33378	CCT		0.647	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		T	614335	G	T	614335	3	4	228	1	0	0	0	0	1	0	0	0	7837	1000	35	4	1017	4	IRF7	11	614335	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08		614335	134392181	51	13799											
CHID1	66005	broad.mit.edu	37	11	870149	870149	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:870149C>G	ENST00000449825.1	-	12	1411	c.1055G>C	c.(1054-1056)aGg>aCg	p.R352T	CHID1_ENST00000526714.1_5'Flank|CHID1_ENST00000323578.8_Missense_Mutation_p.R352T|CHID1_ENST00000436108.2_Missense_Mutation_p.R352T|CHID1_ENST00000528581.1_Missense_Mutation_p.R377T|CHID1_ENST00000336845.5_Missense_Mutation_p.R377T|CHID1_ENST00000454838.2_Missense_Mutation_p.R377T|CHID1_ENST00000323541.7_Missense_Mutation_p.R382T|CHID1_ENST00000429789.2_Missense_Mutation_p.R321T	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	352					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		GACGACGTGCCTCCCACTGCG	0.667																																					Pancreas(117;992 2327 5172 41921)											0													116	106	109					11																	870149		2203	4299	6502	SO:0001583	missense	66005			AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.1055G>C	11.37:g.870149C>G	ENSP00000391255:p.Arg352Thr		B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	CCDS7722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.196|8.196	0.797089|0.797089	0.16327|0.16327	.|.	.|.	ENSG00000177830|ENSG00000177830	ENST00000529539|ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108	.|T;T;T;T;T;T;T;T	.|0.04970	.|3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52	3.46|3.46	2.54|2.54	0.30619|0.30619	.|Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.107948	.|0.64402	.|D	.|0.000012	T|T	0.06872|0.06872	0.0175|0.0175	L|L	0.49350|0.49350	1.555|1.555	0.40582|0.40582	D|D	0.981407|0.981407	.|P;P;P;P;P	.|0.46512	.|0.879;0.879;0.799;0.853;0.718	.|B;B;B;B;B	.|0.43623	.|0.251;0.425;0.39;0.162;0.236	T|T	0.43556|0.43556	-0.9384|-0.9384	5|10	.|0.25106	.|T	.|0.35	-31.2959|-31.2959	6.7951|6.7951	0.23721|0.23721	0.0:0.8658:0.0:0.1342|0.0:0.8658:0.0:0.1342	.|.	.|413;382;321;377;352	.|B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.|.;.;.;.;CHID1_HUMAN	D|T	66|382;352;377;352;321;377;377;352	.|ENSP00000324821:R382T;ENSP00000391255:R352T;ENSP00000398722:R377T;ENSP00000325055:R352T;ENSP00000416034:R321T;ENSP00000435503:R377T;ENSP00000338838:R377T;ENSP00000388156:R352T	.|ENSP00000324821:R382T	E|R	-|-	3|2	2|0	CHID1|CHID1	860149|860149	0.991000|0.991000	0.36638|0.36638	0.544000|0.544000	0.28141|0.28141	0.147000|0.147000	0.21601|0.21601	1.079000|1.079000	0.30766|0.30766	0.795000|0.795000	0.33922|0.33922	-0.379000|-0.379000	0.06801|0.06801	GAG|AGG		0.667	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		G	870149	C	G	870149	3	3	228	1	0	0	0	0	1	0	0	0	3347	681	24	4	134	4	CHID1	11	870149	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	255814	870149	134136367	52	13800											
DENND5A	23258	broad.mit.edu	37	11	9228258	9228258	+	Missense_Mutation	SNP	C	C	T	rs375955901		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:9228258C>T	ENST00000328194.3	-	3	573	c.253G>A	c.(253-255)Gta>Ata	p.V85I	DENND5A_ENST00000530044.1_Missense_Mutation_p.V85I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	85	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V85L(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCCATTCTACGTTCTCAGGA	0.348																																																1	Substitution - Missense(1)	lung(1)											209	191	197					11																	9228258		2201	4296	6497	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.253G>A	11.37:g.9228258C>T	ENSP00000328524:p.Val85Ile		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022785	0.54683	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.43294	0.95;0.95	5.5	5.5	0.81552	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	N	0.21194	0.64	0.80722	D	1	B;B	0.31519	0.327;0.025	B;B	0.24394	0.053;0.053	T	0.08848	-1.0702	10	0.12103	T	0.63	.	19.4004	0.94627	0.0:1.0:0.0:0.0	.	85;85	E9PS91;Q6IQ26	.;DEN5A_HUMAN	I	85	ENSP00000328524:V85I;ENSP00000435866:V85I	ENSP00000328524:V85I	V	-	1	0	DENND5A	9184834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.577000	0.86979	0.655000	0.94253	GTA		0.348	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		T	9228258	C	T	9228258	3	4	228	1	0	0	0	0	1	0	0	0	4438	536	19	1	3694	1	DENND5A	11	9228258	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	8358109	9228258	125778258	53	13801											
C11orf58	10944	broad.mit.edu	37	11	16774369	16774369	+	Silent	SNP	T	T	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:16774369T>A	ENST00000228136.4	+	4	624	c.246T>A	c.(244-246)tcT>tcA	p.S82S	C11orf58_ENST00000525684.1_Missense_Mutation_p.L62H|C11orf58_ENST00000422258.2_Silent_p.S38S			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	82										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						AACTGGAGTCTCAATATCAGC	0.348																																																0													124	118	120					11																	16774369		2200	4294	6494	SO:0001819	synonymous_variant	10944			BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"small acidic protein"					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.246T>A	11.37:g.16774369T>A			B2RD28	Missense_Mutation	SNP	ENST00000228136.4	37	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.386223	0.25031	.	.	ENSG00000110696	ENST00000525684	.	.	.	5.57	1.74	0.24563	.	.	.	.	.	T	0.58466	0.2124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58411	-0.7641	5	0.59425	D	0.04	.	5.4834	0.16737	0.0:0.1384:0.2831:0.5785	.	.	.	.	H	62	.	ENSP00000432534:L62H	L	+	2	0	C11orf58	16730945	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.984000	0.29565	0.902000	0.36520	0.533000	0.62120	CTC		0.348	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	NM_014267		A	16774369	T	A	16774369	2	1	228	1	0	0	0	0	0	0	0	1	1653	1538	54	5		5	C11orf58	11	16774369	Silent	SNP	T	TCGA-B0-5712-01A-11D-1669-08	7546111	16774369	118232147	54	13802											
HTATIP2	10553	broad.mit.edu	37	11	20403771	20403771	+	Silent	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:20403771T>C	ENST00000451739.2	+	4	930	c.489T>C	c.(487-489)tcT>tcC	p.S163S	HTATIP2_ENST00000419348.2_Silent_p.S197S|HTATIP2_ENST00000421577.2_Silent_p.S163S|HTATIP2_ENST00000443524.2_Silent_p.S163S|HTATIP2_ENST00000531058.1_Silent_p.S117S	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATCGTTACTCTGTATTTAGGC	0.358																																																0													119	135	129					11																	20403771		2202	4300	6502	SO:0001819	synonymous_variant	10553			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.489T>C	11.37:g.20403771T>C				Silent	SNP	ENST00000451739.2	37	CCDS7852.1																																																																																				0.358	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		C	20403771	T	C	20403771	2	2	228	1	0	0	0	0	0	0	0	1	7434	1567	55	3		3	HTATIP2	11	20403771	Silent	SNP	T	TCGA-B0-5712-01A-11D-1669-08	3629402	20403771	114602745	55	13803											
DAK	26007	broad.mit.edu	37	11	61109346	61109346	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:61109346C>A	ENST00000394900.3	+	7	846	c.617C>A	c.(616-618)aCc>aAc	p.T206N		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	206	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCCAAACCCACCTTCGAGCTC	0.592																																																0													136	125	129					11																	61109346		2203	4299	6502	SO:0001583	missense	26007				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.617C>A	11.37:g.61109346C>A	ENSP00000378360:p.Thr206Asn		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250556	0.95305	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.29142	1.58;1.58	5.84	5.84	0.93424	Dak kinase (2);	0.105320	0.64402	D	0.000003	T	0.41119	0.1145	L	0.31926	0.97	0.80722	D	1	P;B	0.50528	0.936;0.082	P;B	0.54210	0.745;0.105	T	0.11227	-1.0596	10	0.59425	D	0.04	-37.4993	19.7385	0.96217	0.0:1.0:0.0:0.0	.	206;206	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	N	206;205	ENSP00000378360:T206N;ENSP00000432539:T205N	ENSP00000378360:T206N	T	+	2	0	DAK	60865922	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.185000	0.65076	2.769000	0.95229	0.563000	0.77884	ACC		0.592	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		A	61109346	C	A	61109346	3	1	228	1	0	0	0	0	1	0	0	0	4230	507	18	4	639	4	DAK	11	61109346	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	40705575	61109346	73897170	56	13804											
C11orf9	745	broad.mit.edu	37	11	61549236	61549236	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:61549236C>T	ENST00000278836.5	+	22	3052	c.2956C>T	c.(2956-2958)Cga>Tga	p.R986*	MYRF_ENST00000265460.5_Nonsense_Mutation_p.R951*|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Nonsense_Mutation_p.R377*	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	986					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCGGGCCCGCCGAGGGGCCCT	0.692																																																0													22	27	25					11																	61549236		2198	4283	6481	SO:0001587	stop_gained	745				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2956C>T	11.37:g.61549236C>T	ENSP00000278836:p.Arg986*		O43582|Q9P1Q6	Nonsense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	41	8.709621	0.98925	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	.	.	.	4.18	1.0	0.19881	.	0.074406	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9248	11.9207	0.52791	0.468:0.532:0.0:0.0	.	.	.	.	X	986;951;377	.	ENSP00000265460:R951X	R	+	1	2	C11orf9	61305812	0.997000	0.39634	0.994000	0.49952	0.987000	0.75469	0.120000	0.15647	0.080000	0.16959	0.561000	0.74099	CGA		0.692	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		T	61549236	C	T	61549236	4	4	228	1	0	0	0	0	0	1	0	0	1673	644	23	1	3068	1	C11orf9	11	61549236	Nonsense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	439890	61549236	73457280	57	13805											
SLC22A9	114571	broad.mit.edu	37	11	63177323	63177323	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:63177323A>G	ENST00000279178.3	+	10	1900	c.1651A>G	c.(1651-1653)Acg>Gcg	p.T551A	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	551					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGTGGAAGTGACGCAGTTTTA	0.398																																																0													68	71	70					11																	63177323		2201	4298	6499	SO:0001583	missense	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1651A>G	11.37:g.63177323A>G	ENSP00000279178:p.Thr551Ala		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594959	0.28445	.	.	ENSG00000149742	ENST00000279178	T	0.63580	-0.05	2.9	1.75	0.24633	.	1.555770	0.04325	U	0.351414	T	0.80423	0.4620	M	0.86953	2.85	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.51655	-0.8678	10	0.87932	D	0	.	4.7442	0.13029	0.845:0.0:0.155:0.0	.	551	Q8IVM8	S22A9_HUMAN	A	551	ENSP00000279178:T551A	ENSP00000279178:T551A	T	+	1	0	SLC22A9	62933899	0.111000	0.22076	0.182000	0.23118	0.002000	0.02628	1.048000	0.30379	0.346000	0.23899	0.332000	0.21555	ACG		0.398	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		G	63177323	A	G	63177323	3	3	228	1	0	0	0	0	1	0	0	0	14467	275	10	3	1689	3	SLC22A9	11	63177323	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	1628087	63177323	71829193	58	13806											
MAP3K11	399909	broad.mit.edu	37	11	65380540	65380540	+	5'Flank	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:65380540G>A	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Missense_Mutation_p.H230Y|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCCTCGCAGTGCAGGTAGTGC	0.652																																																0													80	73	75					11																	65380540		2201	4297	6498	SO:0001631	upstream_gene_variant	4296			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380540G>A	Exception_encountered		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598392	0.87055	.	.	ENSG00000173327	ENST00000309100	D	0.97232	-4.3	4.22	4.22	0.49857	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.98874	0.9619	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99250	1.0887	10	0.87932	D	0	.	14.1416	0.65322	0.0:0.0:1.0:0.0	.	230	Q16584	M3K11_HUMAN	Y	230	ENSP00000309597:H230Y	ENSP00000309597:H230Y	H	-	1	0	MAP3K11	65137116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.561000	0.98142	2.195000	0.70347	0.655000	0.94253	CAC		0.652	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		A	65380540	G	A	65380540	1	1	228	0	1	0	0	0	0	0	0	0	9247	1319	46	2		2	MAP3K11	11	65380540	5'Flank	SNP	G	TCGA-B0-5712-01A-11D-1669-08	2203217	65380540	69625976	59	13807											
MYO7A	4647	broad.mit.edu	37	11	76909563	76909563	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:76909563G>A	ENST00000409709.3	+	34	4737	c.4465G>A	c.(4465-4467)Gtc>Atc	p.V1489I	MYO7A_ENST00000458637.2_Missense_Mutation_p.V1489I|MYO7A_ENST00000409619.2_Missense_Mutation_p.V1478I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1489	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAAGAACGACGTCATCGTGGC	0.607																																																0													73	81	78					11																	76909563		2084	4188	6272	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4465G>A	11.37:g.76909563G>A	ENSP00000386331:p.Val1489Ile		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876425	0.33162	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.06	5.06	0.68205	FERM domain (1);	0.067374	0.64402	D	0.000017	D	0.89677	0.6784	M	0.78049	2.395	0.80722	D	1	P;P;B	0.43662	0.545;0.814;0.343	B;B;B	0.35413	0.161;0.202;0.086	D	0.89739	0.3932	10	0.34782	T	0.22	.	18.6167	0.91305	0.0:0.0:1.0:0.0	.	1478;1489;1489	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	I	1489;1489;1478;700;1488;1458;1365;670;142	ENSP00000386331:V1489I;ENSP00000392185:V1489I;ENSP00000386635:V1478I;ENSP00000417017:V670I	ENSP00000345075:V1365I	V	+	1	0	MYO7A	76587211	1.000000	0.71417	0.556000	0.28293	0.082000	0.17680	4.164000	0.58190	2.624000	0.88883	0.655000	0.94253	GTC		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		A	76909563	G	A	76909563	3	1	228	1	0	0	0	0	1	0	0	0	10084	1145	40	1	4629	1	MYO7A	11	76909563	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08	11529023	76909563	58096953	60	13808											
INTS4	92105	broad.mit.edu	37	11	77672030	77672030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:77672030delG	ENST00000534064.1	-	5	660	c.626delC	c.(625-627)ccafs	p.P209fs	INTS4_ENST00000529807.1_Frame_Shift_Del_p.P209fs	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	209					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TCTGACACGTGGGTCTTGGTC	0.408																																																0													218	208	212					11																	77672030		2200	4292	6492	SO:0001589	frameshift_variant	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.626delC	11.37:g.77672030delG	ENSP00000434466:p.Pro209fs		Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Frame_Shift_Del	DEL	ENST00000534064.1	37	CCDS31644.1																																																																																				0.408	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		-	77672030	G	-	77672030	7	5	228	1	0	1	0	1	0	0	0	0	7782	1348	47	0	2341	0	INTS4	11	77672030	Frame_Shift_Del	DEL	G	TCGA-B0-5712-01A-11D-1669-08	762467	77672030	57334486	61	13809											
HSPA8	3312	broad.mit.edu	37	11	122930898	122930898	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:122930898T>C	ENST00000532636.1	-	4	609	c.490A>G	c.(490-492)Att>Gtt	p.I164V	SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.I164V|HSPA8_ENST00000534624.1_Missense_Mutation_p.I164V|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Missense_Mutation_p.I164V|HSPA8_ENST00000526110.1_Missense_Mutation_p.I145V|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000533540.1_Intron|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	164					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGACCAGCAATAGTTCCAGCA	0.423																																					Colon(21;486 594 5900 6733 14272)											0													89	84	86					11																	122930898		2202	4296	6498	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.490A>G	11.37:g.122930898T>C	ENSP00000437125:p.Ile164Val		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643025	0.67244	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182	T;T;T;T;T;T;T;T;T;T;T	0.01323	5.01;5.01;5.01;5.01;5.01;5.01;5.01;5.01;5.01;5.01;5.01	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.07908	0.0198	H	0.98370	4.215	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.002;0.002;0.001;0.002	B;B;B;B;B	0.19391	0.008;0.025;0.005;0.003;0.025	T	0.02424	-1.1161	10	0.87932	D	0	-19.4316	14.7286	0.69362	0.0:0.0:0.0:1.0	.	164;164;164;164;164	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	V	164;164;164;164;145;104;123;164;164;164;164	ENSP00000437125:I164V;ENSP00000432083:I164V;ENSP00000404372:I164V;ENSP00000227378:I164V;ENSP00000433584:I145V;ENSP00000432884:I104V;ENSP00000436762:I123V;ENSP00000435154:I164V;ENSP00000431641:I164V;ENSP00000436183:I164V;ENSP00000434415:I164V	ENSP00000227378:I164V	I	-	1	0	HSPA8	122436108	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.926000	0.87569	1.919000	0.55581	0.459000	0.35465	ATT		0.423	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			C	122930898	T	C	122930898	3	2	228	1	0	0	0	0	1	0	0	0	7418	1406	49	3	1474	3	HSPA8	11	122930898	Missense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08	45258868	122930898	12075618	62	13810											
LRRK2	120892	broad.mit.edu	37	12	40757280	40757280	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:40757280A>G	ENST00000298910.7	+	48	7163	c.7105A>G	c.(7105-7107)Aat>Gat	p.N2369D		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2369					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGCTAAGCAAAATAGCCCTGT	0.358																																																0													112	116	115					12																	40757280		2203	4300	6503	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7105A>G	12.37:g.40757280A>G	ENSP00000298910:p.Asn2369Asp		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	8.147	0.786612	0.16189	.	.	ENSG00000188906	ENST00000298910	T	0.33865	1.39	5.28	4.14	0.48551	WD40 repeat-like-containing domain (1);Armadillo-like helical (1);	0.203110	0.51477	D	0.000084	T	0.29620	0.0739	M	0.62723	1.935	0.27509	N	0.951732	B;B	0.32350	0.366;0.366	B;B	0.24269	0.052;0.052	T	0.16928	-1.0386	10	0.13470	T	0.59	.	10.7412	0.46154	0.924:0.0:0.076:0.0	.	2369;2369	Q17RV3;Q5S007	.;LRRK2_HUMAN	D	2369	ENSP00000298910:N2369D	ENSP00000298910:N2369D	N	+	1	0	LRRK2	39043547	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	2.767000	0.47637	0.857000	0.35407	0.383000	0.25322	AAT		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		G	40757280	A	G	40757280	3	3	228	1	0	0	0	0	1	0	0	0	9035	14	1	3	7295	3	LRRK2	12	40757280	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08		40757280	93094615	63	13811											
PDZRN4	29951	broad.mit.edu	37	12	41967638	41967638	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:41967638G>C	ENST00000402685.2	+	10	3065	c.3057G>C	c.(3055-3057)aaG>aaC	p.K1019N	PDZRN4_ENST00000298919.7_Missense_Mutation_p.K759N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K761N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	1019							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGGGGCCAAGTCTCCAGATG	0.428																																																0													78	70	73					12																	41967638		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.3057G>C	12.37:g.41967638G>C	ENSP00000384197:p.Lys1019Asn		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506268	0.44558	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.75821	-0.97;-0.97;-0.97	4.78	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.81418	0.4818	M	0.67953	2.075	0.45777	D	0.998661	D;D;D	0.76494	0.999;0.995;0.98	P;D;P	0.70487	0.893;0.969;0.907	T	0.80407	-0.1395	10	0.87932	D	0	-32.4485	7.7648	0.28974	0.346:0.0:0.654:0.0	.	1019;759;761	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	1019;761;759	ENSP00000384197:K1019N;ENSP00000439990:K761N;ENSP00000298919:K759N	ENSP00000298919:K759N	K	+	3	2	PDZRN4	40253905	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.499000	0.35671	0.680000	0.31366	0.557000	0.71058	AAG		0.428	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		C	41967638	G	C	41967638	3	2	228	1	0	0	0	0	1	0	0	0	11712	1020	36	4	3168	4	PDZRN4	12	41967638	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08	1210358	41967638	91884257	64	13812											
TUBA1C	84790	broad.mit.edu	37	12	49666782	49666782	+	Silent	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:49666782T>C	ENST00000301072.6	+	4	1397	c.1122T>C	c.(1120-1122)gcT>gcC	p.A374A	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.A444A	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	374					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						TACAGAGAGCTGTGTGCATGC	0.562																																																0													84	71	75					12																	49666782		2203	4300	6503	SO:0001819	synonymous_variant	84790			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"Tubulins"	20768	protein-coding gene	gene with protein product			"tubulin, alpha 6"	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.1122T>C	12.37:g.49666782T>C				Silent	SNP	ENST00000301072.6	37	CCDS8782.1																																																																																				0.562	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704		C	49666782	T	C	49666782	2	2	228	1	0	0	0	0	0	0	0	1	16750	1567	55	3		3	TUBA1C	12	49666782	Silent	SNP	T	TCGA-B0-5712-01A-11D-1669-08	7699144	49666782	84185113	65	13813											
CSRNP2	81566	broad.mit.edu	37	12	51467805	51467805	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:51467805A>T	ENST00000228515.1	-	3	509	c.212T>A	c.(211-213)gTg>gAg	p.V71E	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	71					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GTATACAGTCACCTGGTCAAA	0.532																																																0													86	89	88					12																	51467805		2203	4300	6503	SO:0001583	missense	81566			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16006	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 72"		"chromosome 12 open reading frame 22", "family with sequence similarity 130, member A1"	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.212T>A	12.37:g.51467805A>T	ENSP00000228515:p.Val71Glu			Missense_Mutation	SNP	ENST00000228515.1	37	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864565	0.91511	.	.	ENSG00000110925	ENST00000228515;ENST00000548981;ENST00000552899	T;T	0.14766	2.48;2.48	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.52480	-0.8570	10	0.87932	D	0	-19.4071	14.108	0.65104	1.0:0.0:0.0:0.0	.	71	Q9H175	CSRN2_HUMAN	E	71	ENSP00000228515:V71E;ENSP00000447657:V71E	ENSP00000228515:V71E	V	-	2	0	CSRNP2	49754072	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.029000	0.93718	2.223000	0.72356	0.533000	0.62120	GTG		0.532	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			T	51467805	A	T	51467805	3	4	228	1	0	0	0	0	1	0	0	0	3966	159	6	5	1431	5	CSRNP2	12	51467805	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	1801023	51467805	82384090	66	13814											
TENC1	23371	broad.mit.edu	37	12	53452893	53452893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:53452893delC	ENST00000314250.6	+	18	1758	c.1468delC	c.(1468-1470)cccfs	p.P490fs	TENC1_ENST00000314276.3_Frame_Shift_Del_p.P500fs|TENC1_ENST00000451358.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000379902.3_Frame_Shift_Del_p.P366fs|TENC1_ENST00000546602.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000552570.1_Frame_Shift_Del_p.P490fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	490	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAGCGGCCTCCCCGGCAGAC	0.682																																																0													37	44	42					12																	53452893		2202	4298	6500	SO:0001589	frameshift_variant	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.1468delC	12.37:g.53452893delC	ENSP00000319684:p.Pro490fs		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Frame_Shift_Del	DEL	ENST00000314250.6	37	CCDS8843.1																																																																																				0.682	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		-	53452893	C	-	53452893	7	5	228	1	0	1	0	1	0	0	0	0	15763	855	30	0	1647	0	TENC1	12	53452893	Frame_Shift_Del	DEL	C	TCGA-B0-5712-01A-11D-1669-08	1985088	53452893	80399002	67	13815											
RARG	5916	broad.mit.edu	37	12	53621180	53621180	+	Silent	SNP	G	G	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:53621180G>C	ENST00000425354.2	-	3	637	c.150C>G	c.(148-150)ggC>ggG	p.G50G	RARG_ENST00000394426.1_Silent_p.G50G|RARG_ENST00000327550.3_Intron|RARG_ENST00000543762.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	50	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGTCAGGCTGGCCCAGGCCCC	0.607																																																0													51	55	54					12																	53621180		2203	4300	6503	SO:0001819	synonymous_variant	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.150C>G	12.37:g.53621180G>C			B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	37	CCDS8850.1																																																																																				0.607	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		C	53621180	G	C	53621180	2	2	228	1	0	0	0	0	0	0	0	1	13060	1190	42	4		4	RARG	12	53621180	Silent	SNP	G	TCGA-B0-5712-01A-11D-1669-08	168287	53621180	80230715	68	13816											
EEA1	8411	broad.mit.edu	37	12	93192829	93192829	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:93192829T>C	ENST00000322349.8	-	21	3070	c.2806A>G	c.(2806-2808)Atg>Gtg	p.M936V		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	936					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGTTCCTGCATTGAATTGAGT	0.333																																																0													76	66	69					12																	93192829		2203	4299	6502	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2806A>G	12.37:g.93192829T>C	ENSP00000317955:p.Met936Val		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	0.146	-1.097258	0.01843	.	.	ENSG00000102189	ENST00000322349	T	0.62105	0.05	5.38	-3.68	0.04463	.	0.790188	0.10884	N	0.623512	T	0.28632	0.0709	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	10	0.27082	T	0.32	.	6.7015	0.23227	0.1335:0.4783:0.0:0.3882	.	936	Q15075	EEA1_HUMAN	V	936	ENSP00000317955:M936V	ENSP00000317955:M936V	M	-	1	0	EEA1	91716960	0.001000	0.12720	0.654000	0.29608	0.419000	0.31324	-1.138000	0.03216	-0.247000	0.09597	-0.353000	0.07706	ATG		0.333	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		C	93192829	T	C	93192829	3	2	228	1	0	0	0	0	1	0	0	0	4923	1493	52	3	1465	3	EEA1	12	93192829	Missense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08	39571649	93192829	40659066	69	13817											
TMED2	10959	broad.mit.edu	37	12	124069310	124069310	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:124069310A>G	ENST00000262225.3	+	1	233	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	RP11-486O12.2_ENST00000498967.2_lincRNA|TMED2_ENST00000509052.2_5'Flank	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	43	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		GGGCACCAAGATGGGCCTCAT	0.647																																																0													64	61	62					12																	124069310		2203	4300	6503	SO:0001583	missense	10959			X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.127A>G	12.37:g.124069310A>G	ENSP00000262225:p.Met43Val			Missense_Mutation	SNP	ENST00000262225.3	37	CCDS9250.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.433926	0.62955	.	.	ENSG00000086598	ENST00000262225;ENST00000438031;ENST00000541504	T;T	0.13196	2.61;2.61	4.29	4.29	0.51040	GOLD (3);	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	L	0.41492	1.28	0.80722	D	1	B	0.20368	0.044	B	0.24974	0.057	T	0.03957	-1.0989	10	0.02654	T	1	-9.9869	13.8668	0.63594	1.0:0.0:0.0:0.0	.	43	Q15363	TMED2_HUMAN	V	43	ENSP00000262225:M43V;ENSP00000405845:M43V	ENSP00000262225:M43V	M	+	1	0	TMED2	122635263	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.931000	0.87625	1.920000	0.55613	0.482000	0.46254	ATG		0.647	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400606.1	NM_006815		G	124069310	A	G	124069310	3	3	228	1	0	0	0	0	1	0	0	0	16009	333	12	3	129	3	TMED2	12	124069310	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	30876481	124069310	9782585	70	13818											
ATP6V0A2	23545	broad.mit.edu	37	12	124218515	124218515	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:124218515G>C	ENST00000330342.3	+	7	939	c.691G>C	c.(691-693)Gga>Cga	p.G231R		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	231					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATCCTTTTGGGGAGAGCAGAT	0.328																																																0													159	162	161					12																	124218515		2203	4300	6503	SO:0001583	missense	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.691G>C	12.37:g.124218515G>C	ENSP00000332247:p.Gly231Arg		A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773525	0.90108	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.87966	-2.32;-2.32	5.67	4.78	0.61160	.	0.048652	0.85682	N	0.000000	D	0.95652	0.8586	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.96877	0.9643	10	0.87932	D	0	-19.311	14.3552	0.66733	0.0711:0.0:0.9289:0.0	.	231;231	Q9Y487;Q8TBM3	VPP2_HUMAN;.	R	231;231;101	ENSP00000332247:G231R;ENSP00000443441:G101R	ENSP00000332247:G231R	G	+	1	0	ATP6V0A2	122784468	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	1.401000	0.46761	0.591000	0.81541	GGA		0.328	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		C	124218515	G	C	124218515	3	2	228	1	0	0	0	0	1	0	0	0	1169	1233	43	4	717	4	ATP6V0A2	12	124218515	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08	149205	124218515	9633380	71	13819											
TUBGCP3	10426	broad.mit.edu	37	13	113181276	113181276	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr13:113181276G>A	ENST00000261965.3	-	13	1721	c.1535C>T	c.(1534-1536)tCt>tTt	p.S512F	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.S512F	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	512					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TGACTCTGCAGACTTGGTCAC	0.428																																																0													197	151	167					13																	113181276		2203	4300	6503	SO:0001583	missense	10426			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1535C>T	13.37:g.113181276G>A	ENSP00000261965:p.Ser512Phe		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213494	0.39102	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08807	3.05;3.05	4.53	4.53	0.55603	.	0.424017	0.26474	N	0.024165	T	0.13072	0.0317	L	0.55990	1.75	0.80722	D	1	B;B;B	0.27013	0.166;0.032;0.085	B;B;B	0.33799	0.17;0.023;0.128	T	0.04400	-1.0954	10	0.56958	D	0.05	-15.6283	15.4872	0.75575	0.0:0.0:1.0:0.0	.	502;512;512	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	F	512	ENSP00000261965:S512F;ENSP00000364821:S512F	ENSP00000261965:S512F	S	-	2	0	TUBGCP3	112229277	1.000000	0.71417	0.925000	0.36789	0.371000	0.29859	5.806000	0.69150	2.068000	0.61886	0.196000	0.17591	TCT		0.428	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		A	113181276	G	A	113181276	3	1	228	1	0	0	0	0	1	0	0	0	16772	942	33	2	1228	2	TUBGCP3	13	113181276	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08		113181276	1988602	72	13820											
RTN1	6252	broad.mit.edu	37	14	60069841	60069841	+	Splice_Site	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr14:60069841C>A	ENST00000267484.5	-	8	2565	c.2230G>T	c.(2230-2232)Gca>Tca	p.A744S	RTN1_ENST00000395090.1_Splice_Site_p.A161S|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Splice_Site_p.A176S	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	744	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCAATCTGTGCCTACATAAAG	0.363																																																0													103	92	95					14																	60069841		2203	4300	6503	SO:0001630	splice_region_variant	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2230-1G>T	14.37:g.60069841C>A			Q16800|Q16801|Q5BKZ4|Q9BQ59	Splice_Site	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664001	0.67700	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.42131	0.98;0.98;0.98	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	L	0.58302	1.8	0.80722	D	1	B;D;B	0.71674	0.218;0.998;0.182	B;D;B	0.77004	0.14;0.989;0.177	T	0.62996	-0.6735	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	161;744;176	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	S	324;744;161;176;670	ENSP00000267484:A744S;ENSP00000378525:A161S;ENSP00000340716:A176S	ENSP00000267484:A744S	A	-	1	0	RTN1	59139594	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.089000	0.71384	2.861000	0.98227	0.655000	0.94253	GCA		0.363	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		Missense_Mutation	A	60069841	C	A	60069841	5	1	228	1	0	0	0	0	0	0	1	0	13731	753	26	4	108	4	RTN1	14	60069841	Splice_Site	SNP	C	TCGA-B0-5712-01A-11D-1669-08		60069841	47279699	73	13821											
MAX	4149	broad.mit.edu	37	14	65544727	65544727	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr14:65544727delC	ENST00000358664.4	-	4	329	c.199delG	c.(199-201)gccfs	p.A67fs	MAX_ENST00000557746.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000555932.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000556443.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000555667.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555419.1_Frame_Shift_Del_p.A31fs|MAX_ENST00000556979.1_Frame_Shift_Del_p.A67fs|MAX_ENST00000284165.6_Frame_Shift_Del_p.A67fs|MAX_ENST00000358402.4_Frame_Shift_Del_p.A58fs	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	67	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		TATTCTGTGGCTTTGTCTAGG	0.493																																																0													122	106	111					14																	65544727		2203	4300	6503	SO:0001589	frameshift_variant	4149				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.199delG	14.37:g.65544727delC	ENSP00000351490:p.Ala67fs		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Frame_Shift_Del	DEL	ENST00000358664.4	37	CCDS9771.1																																																																																				0.493	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		-	65544727	C	-	65544727	7	5	228	1	0	1	0	1	0	0	0	0	9341	797	28	0	507	0	MAX	14	65544727	Frame_Shift_Del	DEL	C	TCGA-B0-5712-01A-11D-1669-08	5474886	65544727	41804813	74	13822											
ADAM20	8748	broad.mit.edu	37	14	70991488	70991488	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr14:70991488T>G	ENST00000256389.3	-	2	381	c.137A>C	c.(136-138)aAt>aCt	p.N46T	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAAGCTGTCATTATGGAGCCA	0.527																																																0													159	118	132					14																	70991488		2203	4300	6503	SO:0001583	missense	8748			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.137A>C	14.37:g.70991488T>G	ENSP00000256389:p.Asn46Thr		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	7.172	0.587768	0.13812	.	.	ENSG00000134007	ENST00000256389	T	0.00958	5.5	2.43	0.0263	0.14149	.	.	.	.	.	T	0.00875	0.0029	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48917	-0.8992	6	0.32370	T	0.25	.	3.9092	0.09196	0.0:0.3488:0.1944:0.4567	.	.	.	.	T	46	ENSP00000256389:N46T	ENSP00000256389:N46T	N	-	2	0	ADAM20	70061241	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.130000	0.15850	0.185000	0.20105	-0.334000	0.08254	AAT		0.527	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			G	70991488	T	G	70991488	3	3	228	1	0	0	0	0	1	0	0	0	242	1493	52	5	2197	5	ADAM20	14	70991488	Missense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08	5446761	70991488	36358052	75	13823											
YLPM1	56252	broad.mit.edu	37	14	75230946	75230947	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr14:75230946_75230947insC	ENST00000552421.1	+	1	878_879	c.754_755insC	c.(754-756)gccfs	p.A252fs	YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.A252fs|YLPM1_ENST00000238571.3_Frame_Shift_Ins_p.A252fs			P49750	YLPM1_HUMAN	YLP motif containing 1	252					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCACCGTCCGCCCCCCCTGGA	0.579																																																0																																										SO:0001589	frameshift_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.761dupC	14.37:g.75230953_75230953dupC	ENSP00000447921:p.Ala252fs		P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	ENST00000552421.1	37																																																																																					0.579	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		C	75230947	-	C	75230946	7	5	228	1	0	1	1	0	0	0	0	0	17491	1087	38	0	756	0	YLPM1	14	75230946	Frame_Shift_Ins	INS	-	TCGA-B0-5712-01A-11D-1669-08	4239458	75230946	32118594	76	13824											
ANKRD9	122416	broad.mit.edu	37	14	102973996	102973996	+	Silent	SNP	G	G	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr14:102973996G>C	ENST00000286918.4	-	4	827	c.231C>G	c.(229-231)ctC>ctG	p.L77L	ANKRD9_ENST00000559651.1_Silent_p.L77L|ANKRD9_ENST00000560748.1_Silent_p.L77L	NM_152326.2	NP_689539.1	Q96BM1	ANKR9_HUMAN	ankyrin repeat domain 9	77										pancreas(1)|skin(1)	2						CGAGCGCGTAGAGCAGCGCCT	0.721																																																0													7	8	7					14																	102973996		2031	3961	5992	SO:0001819	synonymous_variant	122416			BC015422	CCDS9973.1	14q32.33	2013-01-11				ENSG00000156381		"Ankyrin repeat domain containing"	20096	protein-coding gene	gene with protein product							Standard	NM_152326		Approved		uc001ylz.1	Q96BM1		ENST00000286918.4:c.231C>G	14.37:g.102973996G>C			A8K753	Silent	SNP	ENST00000286918.4	37	CCDS9973.1																																																																																				0.721	ANKRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415057.1			C	102973996	G	C	102973996	2	2	228	1	0	0	0	0	0	0	0	1	687	929	33	4		4	ANKRD9	14	102973996	Silent	SNP	G	TCGA-B0-5712-01A-11D-1669-08	27743050	102973996	4375544	77	13825											
RPAP1	26015	broad.mit.edu	37	15	41823330	41823330	+	Silent	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr15:41823330C>T	ENST00000304330.4	-	7	950	c.834G>A	c.(832-834)gaG>gaA	p.E278E	RPAP1_ENST00000561603.1_Silent_p.E278E|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	278						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCTCTGCTCCTCAGAGGCTG	0.562																																																0													168	166	167					15																	41823330		2203	4300	6503	SO:0001819	synonymous_variant	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.834G>A	15.37:g.41823330C>T			Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	CCDS10079.1																																																																																				0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		T	41823330	C	T	41823330	2	4	228	1	0	0	0	0	0	0	0	1	13547	680	24	2		2	RPAP1	15	41823330	Silent	SNP	C	TCGA-B0-5712-01A-11D-1669-08		41823330	60708062	78	13826											
IQCH	64799	broad.mit.edu	37	15	67664907	67664907	+	Silent	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr15:67664907T>C	ENST00000335894.4	+	9	1278	c.1212T>C	c.(1210-1212)atT>atC	p.I404I	IQCH_ENST00000546225.1_Silent_p.I152I|IQCH_ENST00000358767.3_Silent_p.I231I|IQCH_ENST00000360277.4_Silent_p.I156I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	404										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGATTGCCATTGCTTGGCTGT	0.453																																																0													123	127	126					15																	67664907		2201	4299	6500	SO:0001819	synonymous_variant	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1212T>C	15.37:g.67664907T>C			A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	CCDS32273.1																																																																																				0.453	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		C	67664907	T	C	67664907	2	2	228	1	0	0	0	0	0	0	0	1	7813	1800	63	3		3	IQCH	15	67664907	Silent	SNP	T	TCGA-B0-5712-01A-11D-1669-08	25841577	67664907	34866485	79	13827											
MCTP2	55784	broad.mit.edu	37	15	94942208	94942208	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr15:94942208delA	ENST00000357742.4	+	14	1807	c.1807delA	c.(1807-1809)aatfs	p.N603fs	MCTP2_ENST00000557742.1_Frame_Shift_Del_p.N191fs|MCTP2_ENST00000451018.3_Frame_Shift_Del_p.N603fs|MCTP2_ENST00000331706.4_Frame_Shift_Del_p.N191fs	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	603					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGACAACCGAATTGTTATGT	0.318																																																0													101	108	106					15																	94942208		2197	4297	6494	SO:0001589	frameshift_variant	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1807delA	15.37:g.94942208delA	ENSP00000350377:p.Asn603fs		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Frame_Shift_Del	DEL	ENST00000357742.4	37	CCDS32338.1																																																																																				0.318	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		-	94942208	A	-	94942208	7	5	228	1	0	1	0	1	0	0	0	0	9403	246	9	0	1861	0	MCTP2	15	94942208	Frame_Shift_Del	DEL	A	TCGA-B0-5712-01A-11D-1669-08	27277301	94942208	7589184	80	13828											
CIITA	4261	broad.mit.edu	37	16	10997754	10997754	+	Splice_Site	SNP	T	T	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr16:10997754T>A	ENST00000324288.8	+	9	1070		c.e9+2		CIITA_ENST00000381835.5_Splice_Site|CIITA_ENST00000537380.1_Splice_Site	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator						aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACATGACAGGTAAGGACCCTT	0.582			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													92	87	89					16																	10997754		2197	4300	6497	SO:0001630	splice_region_variant	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.937+2T>A	16.37:g.10997754T>A			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Splice_Site	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.479885	0.26511	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.937	0.52878	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CIITA	10905255	1.000000	0.71417	0.890000	0.34922	0.006000	0.05464	2.006000	0.40874	2.076000	0.62316	0.533000	0.62120	.		0.582	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	Intron	A	10997754	T	A	10997754	5	1	228	1	0	0	0	0	0	0	1	0	3430	1652	57	5	973	5	CIITA	16	10997754	Splice_Site	SNP	T	TCGA-B0-5712-01A-11D-1669-08		10997754	79356999	81	13829											
SEPHS2	22928	broad.mit.edu	37	16	30455759	30455759	+	Silent	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr16:30455759G>T	ENST00000478753.2	-	1	1743	c.1290C>A	c.(1288-1290)gcC>gcA	p.A430A	SEPHS2_ENST00000500504.2_Silent_p.A430A|SEPHS2_ENST00000542752.1_Silent_p.A373A			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	430					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CAGCAGCTGTGGCCCCACGAG	0.527																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)											0													73	78	77					16																	30455759		2057	4197	6254	SO:0001819	synonymous_variant	22928			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1290C>A	16.37:g.30455759G>T			Q9BUQ2	Silent	SNP	ENST00000478753.2	37																																																																																					0.527	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		T	30455759	G	T	30455759	2	4	228	1	0	0	0	0	0	0	0	1	14061	1335	47	4		4	SEPHS2	16	30455759	Silent	SNP	G	TCGA-B0-5712-01A-11D-1669-08	19458005	30455759	59898994	82	13830											
NUDT21	11051	broad.mit.edu	37	16	56473652	56473652	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr16:56473652C>G	ENST00000300291.5	-	4	560	c.388G>C	c.(388-390)Ggt>Cgt	p.G130R		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	130	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						TCCTGACGACCCAGTATCTGT	0.403																																																0													140	142	141					16																	56473652		2198	4300	6498	SO:0001583	missense	11051			AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"Nudix motif containing"	13870	protein-coding gene	gene with protein product	"cleavage factor Im complex 25 kDa subunit"	604978	"cleavage and polyadenylation specific factor 5, 25 kDa", "cleavage and polyadenylation specific factor 5, 25 kD subunit"	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.388G>C	16.37:g.56473652C>G	ENSP00000300291:p.Gly130Arg		Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	37	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217073	0.95104	.	.	ENSG00000167005	ENST00000300291	T	0.54479	0.57	5.83	5.83	0.93111	NUDIX hydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.77638	0.4160	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79769	-0.1664	10	0.72032	D	0.01	.	20.1374	0.98035	0.0:1.0:0.0:0.0	.	130	O43809	CPSF5_HUMAN	R	130	ENSP00000300291:G130R	ENSP00000300291:G130R	G	-	1	0	NUDT21	55031153	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.806000	0.86020	2.763000	0.94921	0.563000	0.77884	GGT		0.403	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006		G	56473652	C	G	56473652	3	3	228	1	0	0	0	0	1	0	0	0	10740	623	22	4	311	4	NUDT21	16	56473652	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	26017893	56473652	33881101	83	13831											
DPEP1	1800	broad.mit.edu	37	16	89702720	89702720	+	Missense_Mutation	SNP	C	C	T	rs370798757		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr16:89702720C>T	ENST00000393092.3	+	4	577	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	DPEP1_ENST00000421184.1_Missense_Mutation_p.R96W|DPEP1_ENST00000261615.4_Missense_Mutation_p.R96W	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	96					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AGACGCCGTGCGGAGGACGCT	0.647																																																0									TRP/ARG,TRP/ARG	0,4370		0,0,2185	52	45	47		286,286	0.3	0.1	16		47	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense	DPEP1	NM_001128141.1,NM_004413.3	101,101	0,1,6476	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	96/412,96/412	89702720	1,12953	2185	4292	6477	SO:0001583	missense	1800				CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.286C>T	16.37:g.89702720C>T	ENSP00000376807:p.Arg96Trp		D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	c	17.86	3.493073	0.64186	0.0	1.16E-4	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.24723	1.84;1.84;1.84	5.41	0.267	0.15622	.	0.399325	0.29438	N	0.012155	T	0.57257	0.2041	M	0.93462	3.42	0.30259	N	0.793319	D	0.89917	1.0	D	0.73708	0.981	T	0.64997	-0.6275	10	0.87932	D	0	-4.3989	13.3402	0.60540	0.4436:0.5564:0.0:0.0	.	96	P16444	DPEP1_HUMAN	W	96	ENSP00000397313:R96W;ENSP00000376807:R96W;ENSP00000261615:R96W	ENSP00000261615:R96W	R	+	1	2	DPEP1	88230221	0.999000	0.42202	0.088000	0.20740	0.665000	0.39181	2.620000	0.46410	-0.227000	0.09884	-0.438000	0.05819	CGG		0.647	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		T	89702720	C	T	89702720	3	4	228	1	0	0	0	0	1	0	0	0	4715	759	27	1	296	1	DPEP1	16	89702720	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	33229068	89702720	652033	84	13832											
RPA1	6117	broad.mit.edu	37	17	1782610	1782610	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:1782610G>A	ENST00000254719.5	+	10	971	c.861G>A	c.(859-861)atG>atA	p.M287I		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	287					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CTTCCGTCATGCCCTGTGAGG	0.443								Nucleotide excision repair (NER)																																								0													110	103	106					17																	1782610		2203	4300	6503	SO:0001583	missense	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.861G>A	17.37:g.1782610G>A	ENSP00000254719:p.Met287Ile		A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891071	0.33348	.	.	ENSG00000132383	ENST00000254719	T	0.39997	1.05	6.08	0.421	0.16451	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.578448	0.21006	N	0.081765	T	0.12689	0.0308	N	0.01742	-0.745	0.27085	N	0.962981	B	0.02656	0.0	B	0.01281	0.0	T	0.11867	-1.0570	10	0.29301	T	0.29	-3.7747	1.7966	0.03062	0.1876:0.1041:0.3778:0.3304	.	287	P27694	RFA1_HUMAN	I	287	ENSP00000254719:M287I	ENSP00000254719:M287I	M	+	3	0	RPA1	1729360	0.904000	0.30761	0.990000	0.47175	0.938000	0.57974	0.022000	0.13511	0.114000	0.18032	0.591000	0.81541	ATG		0.443	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		A	1782610	G	A	1782610	3	1	228	1	0	0	0	0	1	0	0	0	13542	1319	46	2	899	2	RPA1	17	1782610	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08		1782610	79412600	85	13833	106	2									
RPA1	6117	broad.mit.edu	37	17	1782612	1782612	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:1782612C>T	ENST00000254719.5	+	10	973	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	288					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TCCGTCATGCCCTGTGAGGAC	0.443								Nucleotide excision repair (NER)																																								0													110	103	106					17																	1782612		2203	4300	6503	SO:0001583	missense	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.863C>T	17.37:g.1782612C>T	ENSP00000254719:p.Pro288Leu		A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443148	0.25987	.	.	ENSG00000132383	ENST00000254719	T	0.44881	0.91	6.08	4.93	0.64822	Nucleic acid-binding, OB-fold-like (1);	0.047393	0.85682	D	0.000000	T	0.37237	0.0996	L	0.42529	1.33	0.80722	D	1	B	0.13594	0.008	B	0.17098	0.017	T	0.07986	-1.0744	10	0.27785	T	0.31	-12.8721	16.2916	0.82756	0.0:0.9271:0.0:0.0729	.	288	P27694	RFA1_HUMAN	L	288	ENSP00000254719:P288L	ENSP00000254719:P288L	P	+	2	0	RPA1	1729362	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.104000	0.50306	2.894000	0.99253	0.591000	0.81541	CCC		0.443	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		T	1782612	C	T	1782612	3	4	228	1	0	0	0	0	1	0	0	0	13542	623	22	2	901	2	RPA1	17	1782612	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	2	1782612	79412598	86	13834	106	2									
KIF1C	10749	broad.mit.edu	37	17	4916956	4916956	+	Silent	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:4916956C>T	ENST00000320785.5	+	17	1857	c.1500C>T	c.(1498-1500)caC>caT	p.H500H		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	500					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGACTCCCCACCTGGTGAACC	0.597																																					Melanoma(96;1023 1447 10250 19259 33730)											0													68	55	59					17																	4916956		2203	4300	6503	SO:0001819	synonymous_variant	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1500C>T	17.37:g.4916956C>T			D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	CCDS11065.1																																																																																				0.597	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			T	4916956	C	T	4916956	2	4	228	1	0	0	0	0	0	0	0	1	8287	506	18	2		2	KIF1C	17	4916956	Silent	SNP	C	TCGA-B0-5712-01A-11D-1669-08	3134344	4916956	76278254	87	13835											
NEURL4	84461	broad.mit.edu	37	17	7228990	7228990	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:7228990G>T	ENST00000399464.2	-	7	1351	c.1336C>A	c.(1336-1338)Cta>Ata	p.L446I	NEURL4_ENST00000315614.7_Missense_Mutation_p.L446I|NEURL4_ENST00000570460.1_Missense_Mutation_p.L424I	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	446	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGAAGTGTAGGGCAGAGTTG	0.567																																																0													122	124	123					17																	7228990		1910	4116	6026	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1336C>A	17.37:g.7228990G>T	ENSP00000382390:p.Leu446Ile		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942320	0.92526	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.45276	0.95;0.9	5.2	4.24	0.50183	NEUZ (1);	0.000000	0.64402	D	0.000003	T	0.62356	0.2421	M	0.75884	2.315	0.43199	D	0.995049	D;D	0.71674	0.998;0.998	D;D	0.91635	0.999;0.996	T	0.66264	-0.5967	10	0.72032	D	0.01	-10.7193	11.5139	0.50509	0.0861:0.0:0.9139:0.0	.	446;446	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	I	446	ENSP00000319826:L446I;ENSP00000382390:L446I	ENSP00000319826:L446I	L	-	1	2	NEURL4	7169714	1.000000	0.71417	0.933000	0.37362	0.960000	0.62799	3.404000	0.52623	1.447000	0.47661	0.655000	0.94253	CTA		0.567	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		T	7228990	G	T	7228990	3	4	228	1	0	0	0	0	1	0	0	0	10349	991	35	4	3444	4	NEURL4	17	7228990	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08	2312034	7228990	73966220	88	13836											
DNAH2	146754	broad.mit.edu	37	17	7721011	7721011	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:7721011G>A	ENST00000572933.1	+	66	11613	c.10153G>A	c.(10153-10155)Gtc>Atc	p.V3385I	DNAH2_ENST00000389173.2_Missense_Mutation_p.V3385I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3385	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCATCATCGTCACCCGAGG	0.597																																																0													73	69	71					17																	7721011		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10153G>A	17.37:g.7721011G>A	ENSP00000458355:p.Val3385Ile		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825460	0.71143	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61040	0.14	5.36	5.36	0.76844	.	0.077077	0.51477	D	0.000099	T	0.72938	0.3523	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.67900	0.923;0.954	T	0.72646	-0.4230	10	0.45353	T	0.12	.	17.8503	0.88744	0.0:0.0:1.0:0.0	.	3346;3385	Q9P225-2;Q9P225	.;DYH2_HUMAN	I	3346;3385	ENSP00000373825:V3385I	ENSP00000353818:V3346I	V	+	1	0	DNAH2	7661736	1.000000	0.71417	0.963000	0.40424	0.546000	0.35178	5.306000	0.65756	2.514000	0.84764	0.557000	0.71058	GTC		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7721011	G	A	7721011	3	1	228	1	0	0	0	0	1	0	0	0	4604	1145	40	1	10411	1	DNAH2	17	7721011	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08	492021	7721011	73474199	89	13837											
SUPT6H	6830	broad.mit.edu	37	17	27000506	27000506	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:27000506A>C	ENST00000314616.6	+	2	370	c.87A>C	c.(85-87)aaA>aaC	p.K29N	SUPT6H_ENST00000347486.4_Missense_Mutation_p.K29N|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	29	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCACCAAGAAATTTGTGGAAG	0.493																																																0													80	76	77					17																	27000506		2203	4300	6503	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.87A>C	17.37:g.27000506A>C	ENSP00000319104:p.Lys29Asn		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.549741	0.27652	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.75	0.0205	0.14125	.	0.044802	0.85682	D	0.000000	T	0.22399	0.0540	N	0.08118	0	0.54753	D	0.999984	P	0.37781	0.608	B	0.31869	0.137	T	0.04915	-1.0918	9	0.45353	T	0.12	-20.4035	10.9405	0.47270	0.4794:0.0:0.5206:0.0	.	29	Q7KZ85	SPT6H_HUMAN	N	29	.	ENSP00000319104:K29N	K	+	3	2	SUPT6H	24024633	0.995000	0.38212	0.999000	0.59377	0.998000	0.95712	0.389000	0.20751	0.018000	0.15052	0.533000	0.62120	AAA		0.493	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		C	27000506	A	C	27000506	3	2	228	1	0	0	0	0	1	0	0	0	15405	98	4	5	89	5	SUPT6H	17	27000506	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	19279495	27000506	54194704	90	13838											
SSH2	85464	broad.mit.edu	37	17	28022532	28022533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:28022532_28022533insG	ENST00000269033.3	-	4	371_372	c.220_221insC	c.(220-222)caafs	p.Q74fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000324677.7_5'UTR|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.Q101fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	74					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGATGCTGTTGGAGATCGCCT	0.376																																																0																																										SO:0001589	frameshift_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.221dupC	17.37:g.28022534_28022534dupG	ENSP00000269033:p.Gln74fs		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	CCDS11253.1																																																																																				0.376	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		G	28022533	-	G	28022532	7	5	228	1	0	1	1	0	0	0	0	0	15190	1812	63	0	4098	0	SSH2	17	28022532	Frame_Shift_Ins	INS	-	TCGA-B0-5712-01A-11D-1669-08	1022026	28022532	53172678	91	13839											
MAPT	4137	broad.mit.edu	37	17	44091681	44091681	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:44091681C>T	ENST00000571987.1	+	11	1939	c.1939C>T	c.(1939-1941)Cat>Tat	p.H647Y	MAPT_ENST00000420682.2_Missense_Mutation_p.H301Y|MAPT_ENST00000340799.5_Missense_Mutation_p.H301Y|MAPT_ENST00000415613.2_Missense_Mutation_p.H665Y|MAPT_ENST00000262410.5_Missense_Mutation_p.H647Y|MAPT_ENST00000334239.8_Missense_Mutation_p.H241Y|MAPT_ENST00000431008.3_Missense_Mutation_p.H299Y|MAPT_ENST00000344290.5_Missense_Mutation_p.H665Y|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Missense_Mutation_p.H330Y|MAPT_ENST00000446361.3_Missense_Mutation_p.H272Y|MAPT_ENST00000535772.1_Missense_Mutation_p.H299Y|MAPT_ENST00000576518.1_Missense_Mutation_p.H230Y|MAPT_ENST00000347967.5_Missense_Mutation_p.H205Y|MAPT_ENST00000351559.5_Missense_Mutation_p.H330Y			P10636	TAU_HUMAN	microtubule-associated protein tau	647					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CAACATCCATCATAAACCAGG	0.552																																																0													106	84	91					17																	44091681		2203	4300	6503	SO:0001583	missense	4137			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1939C>T	17.37:g.44091681C>T	ENSP00000458742:p.His647Tyr		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325551	0.81580	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	D;D;D;D;D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72	5.09	5.09	0.68999	.	0.000000	0.40728	N	0.001037	D	0.98909	0.9630	M	0.89840	3.065	0.80722	D	1	D;D;D;P;D;D;D	0.76494	0.997;0.975;0.998;0.725;0.997;0.996;0.999	D;D;D;P;D;D;D	0.87578	0.995;0.974;0.998;0.79;0.995;0.986;0.998	D	0.99433	1.0936	10	0.54805	T	0.06	-10.4865	17.4407	0.87564	0.0:1.0:0.0:0.0	.	665;301;248;241;272;330;647	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	Y	665;647;330;301;299;205;248;241;272;301;665;153	ENSP00000340820:H665Y;ENSP00000262410:H647Y;ENSP00000303214:H330Y;ENSP00000340438:H301Y;ENSP00000443028:H299Y;ENSP00000302706:H205Y;ENSP00000408975:H241Y;ENSP00000413056:H301Y;ENSP00000410838:H665Y	ENSP00000262410:H647Y	H	+	1	0	MAPT	41447518	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.818000	0.86416	2.521000	0.84997	0.561000	0.74099	CAT		0.552	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		T	44091681	C	T	44091681	3	4	228	1	0	0	0	0	1	0	0	0	9299	826	29	2	2039	2	MAPT	17	44091681	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	16069149	44091681	37103529	92	13840											
KPNB1	3837	broad.mit.edu	37	17	45747173	45747173	+	Silent	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:45747173C>T	ENST00000290158.4	+	11	1761	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	KPNB1_ENST00000537679.1_Silent_p.L236L|KPNB1_ENST00000535458.2_Silent_p.L307L|KPNB1_ENST00000540627.1_Silent_p.L307L	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	452					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTTGGCTCCCCTGCTACAGTG	0.502																																																0													185	161	170					17																	45747173		2203	4300	6503	SO:0001819	synonymous_variant	3837			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1354C>T	17.37:g.45747173C>T			B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Silent	SNP	ENST00000290158.4	37	CCDS11513.1																																																																																				0.502	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		T	45747173	C	T	45747173	2	4	228	1	0	0	0	0	0	0	0	1	8437	680	24	2		2	KPNB1	17	45747173	Silent	SNP	C	TCGA-B0-5712-01A-11D-1669-08	1655492	45747173	35448037	93	13841											
CNDP2	55748	broad.mit.edu	37	18	72180800	72180800	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr18:72180800T>A	ENST00000324262.4	+	8	1065	c.749T>A	c.(748-750)tTg>tAg	p.L250*	CNDP2_ENST00000579847.1_Nonsense_Mutation_p.L250*|CNDP2_ENST00000324301.8_Nonsense_Mutation_p.L166*	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	250					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TCAGGCTCTTTGGTGGACAAG	0.622																																																0													36	33	34					18																	72180800		2203	4300	6503	SO:0001587	stop_gained	55748			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.749T>A	18.37:g.72180800T>A	ENSP00000325548:p.Leu250*		B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Nonsense_Mutation	SNP	ENST00000324262.4	37	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	T	37	6.177616	0.97352	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	.	.	.	5.46	5.46	0.80206	.	0.068226	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2009	15.5525	0.76164	0.0:0.0:0.0:1.0	.	.	.	.	X	250;166	.	ENSP00000325548:L250X	L	+	2	0	CNDP2	70331780	1.000000	0.71417	0.004000	0.12327	0.714000	0.41099	7.782000	0.85680	2.070000	0.61991	0.533000	0.62120	TTG		0.622	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		A	72180800	T	A	72180800	4	1	228	1	0	0	0	0	0	1	0	0	3596	1821	63	5	775	5	CNDP2	18	72180800	Nonsense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08		72180800	5896448	94	13842											
CNDP1	84735	broad.mit.edu	37	18	72247364	72247364	+	Splice_Site	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr18:72247364A>G	ENST00000358821.3	+	10	1395		c.e10-1		CNDP1_ENST00000582365.1_Splice_Site	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)							extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GTCACCTTTTAGGTGACACGA	0.348																																					Melanoma(32;1029 1042 25286 38395 44237)											0													72	67	69					18																	72247364		2203	4300	6503	SO:0001630	splice_region_variant	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1168-1A>G	18.37:g.72247364A>G			Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Splice_Site	SNP	ENST00000358821.3	37	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.608769	0.28623	.	.	ENSG00000150656	ENST00000358821	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7864	0.63112	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNDP1	70398344	1.000000	0.71417	0.879000	0.34478	0.139000	0.21198	7.737000	0.84957	1.899000	0.54978	0.460000	0.39030	.		0.348	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649	Intron	G	72247364	A	G	72247364	5	3	228	1	0	0	0	0	0	0	1	0	3595	434	15	3	1204	3	CNDP1	18	72247364	Splice_Site	SNP	A	TCGA-B0-5712-01A-11D-1669-08	66564	72247364	5829884	95	13843											
THOP1	7064	broad.mit.edu	37	19	2794798	2794798	+	Missense_Mutation	SNP	C	C	T	rs200973060		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr19:2794798C>T	ENST00000307741.6	+	3	469	c.266C>T	c.(265-267)tCc>tTc	p.S89F	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	89					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCATGTTTCCCCCTCCAAG	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17221	0.0		0.0	False		,,,				2504	0.0															0													161	161	161					19																	2794798		2203	4300	6503	SO:0001583	missense	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.266C>T	19.37:g.2794798C>T	ENSP00000304467:p.Ser89Phe		B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	CCDS12095.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.94	2.982257	0.53827	.	.	ENSG00000172009	ENST00000307741	T	0.08282	3.11	5.25	5.25	0.73442	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	M	0.85041	2.73	0.80722	D	1	D	0.65815	0.995	P	0.57720	0.826	T	0.07366	-1.0776	10	0.59425	D	0.04	-30.0954	17.405	0.87471	0.0:1.0:0.0:0.0	.	89	P52888	THOP1_HUMAN	F	89	ENSP00000304467:S89F	ENSP00000304467:S89F	S	+	2	0	THOP1	2745798	1.000000	0.71417	0.056000	0.19401	0.140000	0.21249	7.121000	0.77160	2.451000	0.82905	0.561000	0.74099	TCC		0.557	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			T	2794798	C	T	2794798	3	4	228	1	0	0	0	0	1	0	0	0	15876	855	30	2	276	2	THOP1	19	2794798	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08		2794798	56334185	96	13844											
MUC16	94025	broad.mit.edu	37	19	9076119	9076119	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr19:9076119A>C	ENST00000397910.4	-	3	11530	c.11327T>G	c.(11326-11328)tTg>tGg	p.L3776W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3777	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGAAGGGCAACTGTGAGGT	0.517																																																0													149	146	147					19																	9076119		2060	4206	6266	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11327T>G	19.37:g.9076119A>C	ENSP00000381008:p.Leu3776Trp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	1.821	-0.472163	0.04445	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	1.93	-1.68	0.08212	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	.	.	.	D	0.61697	0.99	D	0.63113	0.911	T	0.38779	-0.9645	8	0.87932	D	0	.	2.1824	0.03878	0.4255:0.0:0.3308:0.2437	.	3776	B5ME49	.	W	3776	ENSP00000381008:L3776W	ENSP00000381008:L3776W	L	-	2	0	MUC16	8937119	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.634000	0.05477	-0.626000	0.05596	-0.736000	0.03550	TTG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9076119	A	C	9076119	3	2	228	1	0	0	0	0	1	0	0	0	9975	131	5	5	32524	5	MUC16	19	9076119	Missense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	6281321	9076119	50052864	97	13845											
CATSPERG	57828	broad.mit.edu	37	19	38857909	38857909	+	Silent	SNP	C	C	T	rs144017491	byFrequency	TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr19:38857909C>T	ENST00000409235.3	+	23	2842	c.2727C>T	c.(2725-2727)tgC>tgT	p.C909C	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.C869C	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	909					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACTTTGACTGCGTTAACGTGA	0.567													c|||	2	0.000399361	0.0	0.0029	5008	,	,		19150	0.0		0.0	False		,,,				2504	0.0															0								T		0,4406		0,0,2203	135	105	115		2727	-1	0	19	dbSNP_134	115	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	CATSPERG	NM_021185.4		0,17,6486	TT,TC,CC		0.1977,0.0,0.1307		909/1160	38857909	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2727C>T	19.37:g.38857909C>T			A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	CCDS12514.2																																																																																				0.567	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		T	38857909	C	T	38857909	2	4	228	1	0	0	0	0	0	0	0	1	2694	776	27	1		1	CATSPERG	19	38857909	Silent	SNP	C	TCGA-B0-5712-01A-11D-1669-08	29781790	38857909	20271074	98	13846											
ARHGAP35	2909	broad.mit.edu	37	19	47424034	47424034	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr19:47424034T>C	ENST00000404338.3	+	1	2102	c.2102T>C	c.(2101-2103)aTt>aCt	p.I701T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	701					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTTACATTAATTTTGGTTAAC	0.443																																																0													35	33	34					19																	47424034		1945	4145	6090	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2102T>C	19.37:g.47424034T>C	ENSP00000385720:p.Ile701Thr		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.691489	0.30052	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.09911	2.93	5.58	5.58	0.84498	.	0.167048	0.53938	D	0.000050	T	0.13713	0.0332	L	0.46157	1.445	0.44789	D	0.997795	P	0.44521	0.837	B	0.41666	0.363	T	0.00875	-1.1531	10	0.72032	D	0.01	-23.9775	15.0225	0.71640	0.0:0.0:0.0:1.0	.	701	Q9NRY4-2	.	T	701	ENSP00000385720:I701T	ENSP00000324820:I701T	I	+	2	0	ARHGAP35	52115874	1.000000	0.71417	0.829000	0.32907	0.450000	0.32258	6.231000	0.72307	2.248000	0.74166	0.528000	0.53228	ATT		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		C	47424034	T	C	47424034	3	2	228	1	0	0	0	0	1	0	0	0	6797	1493	52	3	2104	3	ARHGAP35	19	47424034	Missense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08	8566125	47424034	11704949	99	13847											
KLK3	354	broad.mit.edu	37	19	51362828	51362828	+	Intron	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr19:51362828A>C	ENST00000326003.2	+	5	671				KLK3_ENST00000597483.1_Missense_Mutation_p.M182L|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000360617.3_Missense_Mutation_p.M225L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3						cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		AGCCCTGCCGATGGTCCTCCA	0.607																																					Colon(185;1767 2023 13025 30120 37630)											0													114	93	100					19																	51362828		2203	4300	6503	SO:0001627	intron_variant	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.631-400A>C	19.37:g.51362828A>C			C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	a	6.126	0.391481	0.11581	.	.	ENSG00000142515	ENST00000360617	D	0.87809	-2.3	1.55	1.55	0.23275	.	.	.	.	.	T	0.65481	0.2695	N	0.04203	-0.255	0.24245	N	0.995341	B	0.02656	0.0	B	0.01281	0.0	T	0.55335	-0.8157	9	0.05959	T	0.93	.	5.2089	0.15307	1.0:0.0:0.0:0.0	.	225	G3XAE3	.	L	225	ENSP00000353829:M225L	ENSP00000353829:M225L	M	+	1	0	KLK3	56054640	0.001000	0.12720	0.014000	0.15608	0.004000	0.04260	1.168000	0.31859	0.956000	0.37904	0.329000	0.21502	ATG		0.607	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		C	51362828	A	C	51362828	1	2	228	0	1	0	0	0	0	0	0	0	8407	333	12	5		5	KLK3	19	51362828	Intron	SNP	A	TCGA-B0-5712-01A-11D-1669-08	3938794	51362828	7766155	100	13848											
RRBP1	6238	broad.mit.edu	37	20	17600277	17600277	+	Splice_Site	SNP	C	C	T	rs374039577		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr20:17600277C>T	ENST00000377813.1	-	19	3979		c.e19+1		RRBP1_ENST00000377807.2_Splice_Site|RRBP1_ENST00000246043.4_Splice_Site|RRBP1_ENST00000470422.1_Splice_Site|RRBP1_ENST00000455029.2_Splice_Site|RRBP1_ENST00000360807.4_Splice_Site			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1						osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCAGACTCACCCCTGCCACC	0.647																																																0								C	,	1,4405	2.1+/-5.4	0,1,2202	44	33	37		,	5.6	1	20		37	0,8600		0,0,4300	no	splice-5,splice-5	RRBP1	NM_001042576.1,NM_004587.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,	17600277	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3675+1G>A	20.37:g.17600277C>T			A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Splice_Site	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	17.17	3.320143	0.60634	2.27E-4	0.0	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2387	0.89958	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRBP1	17548277	0.996000	0.38824	1.000000	0.80357	0.775000	0.43874	3.341000	0.52151	2.656000	0.90262	0.563000	0.77884	.		0.647	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576	Intron	T	17600277	C	T	17600277	5	4	228	1	0	0	0	0	0	0	1	0	13684	521	18	2	584	2	RRBP1	20	17600277	Splice_Site	SNP	C	TCGA-B0-5712-01A-11D-1669-08		17600277	45425243	101	13849											
DNMT3B	1789	broad.mit.edu	37	20	31383331	31383331	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr20:31383331C>A	ENST00000328111.2	+	11	1564	c.1243C>A	c.(1243-1245)Cag>Aag	p.Q415K	DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q407K|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q395K|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q353K|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q319K|DNMT3B_ENST00000375623.4_Silent_p.I304I	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	415					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGATGAAGATCAGAGCCGAGG	0.557																																																0													94	108	103					20																	31383331		2203	4300	6503	SO:0001583	missense	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1243C>A	20.37:g.31383331C>A	ENSP00000328547:p.Gln415Lys		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954536	0.34471	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	5.29	4.33	0.51752	.	0.622767	0.17322	N	0.178441	D	0.94162	0.8127	L	0.55481	1.735	0.80722	D	1	B;B;B;B;B;B;B	0.16166	0.001;0.009;0.002;0.016;0.001;0.016;0.002	B;B;B;B;B;B;B	0.19666	0.003;0.007;0.004;0.026;0.004;0.026;0.003	D	0.91313	0.5076	10	0.30854	T	0.27	-12.5215	13.0264	0.58817	0.0:0.8312:0.1688:0.0	.	319;353;114;407;395;395;415	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	K	415;481;395;395;353;319;395;407	ENSP00000328547:Q415K;ENSP00000313397:Q395K;ENSP00000337764:Q395K;ENSP00000403169:Q353K;ENSP00000412305:Q319K;ENSP00000345105:Q395K;ENSP00000201963:Q407K	ENSP00000201963:Q407K	Q	+	1	0	DNMT3B	30846992	0.986000	0.35501	0.994000	0.49952	0.562000	0.35680	2.506000	0.45433	1.357000	0.45904	0.650000	0.86243	CAG		0.557	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		A	31383331	C	A	31383331	3	1	228	1	0	0	0	0	1	0	0	0	4679	827	29	4	1321	4	DNMT3B	20	31383331	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	13783054	31383331	31642189	102	13850											
KIAA0406	9675	broad.mit.edu	37	20	36642156	36642156	+	Silent	SNP	G	G	T	rs192121072	byFrequency	TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr20:36642156G>T	ENST00000373448.2	-	3	301	c.63C>A	c.(61-63)ctC>ctA	p.L21L	TTI1_ENST00000449821.1_Silent_p.L21L|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Silent_p.L21L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	21					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGGTCTTTGTGAGCTGAACAC	0.512																																																0													135	117	124					20																	36642156		2203	4300	6503	SO:0001819	synonymous_variant	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.63C>A	20.37:g.36642156G>T			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	CCDS13300.1																																																																																				0.512	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		T	36642156	G	T	36642156	2	4	228	1	0	0	0	0	0	0	0	1	8175	1277	45	4		4	KIAA0406	20	36642156	Silent	SNP	G	TCGA-B0-5712-01A-11D-1669-08	5258825	36642156	26383364	103	13851											
CHRNA4	1137	broad.mit.edu	37	20	61981066	61981066	+	Missense_Mutation	SNP	C	C	T	rs200810080		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr20:61981066C>T	ENST00000370263.4	-	5	1918	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	566					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CTCCACCGCCCGGGTCAGGGC	0.677																																																0								C	GLN/ARG	0,4400		0,0,2200	38	47	44		1697	3.7	0.5	20		44	1,8597	1.2+/-3.3	0,1,4298	no	missense	CHRNA4	NM_000744.5	43	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	566/628	61981066	1,12997	2200	4299	6499	SO:0001583	missense	1137				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1697G>A	20.37:g.61981066C>T	ENSP00000359285:p.Arg566Gln		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	9.077	0.998310	0.19043	0.0	1.16E-4	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.85955	-2.05	4.72	3.7	0.42460	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.552403	0.19878	N	0.104026	T	0.72317	0.3445	L	0.34521	1.04	0.09310	N	0.999996	B;B	0.30281	0.178;0.275	B;B	0.25291	0.059;0.033	T	0.58081	-0.7699	10	0.27082	T	0.32	.	5.3731	0.16150	0.3501:0.5386:0.0:0.1112	.	495;566	Q4VAQ5;P43681	.;ACHA4_HUMAN	Q	472;566;495	ENSP00000359285:R566Q	ENSP00000359280:R472Q	R	-	2	0	CHRNA4	61451510	0.147000	0.22687	0.494000	0.27515	0.361000	0.29550	1.377000	0.34317	2.176000	0.68965	0.491000	0.48974	CGG		0.677	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			T	61981066	C	T	61981066	3	4	228	1	0	0	0	0	1	0	0	0	3387	652	23	1	194	1	CHRNA4	20	61981066	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	25338910	61981066	1044454	104	13852											
CNKSR2	22866	broad.mit.edu	37	X	21519646	21519646	+	Silent	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:21519646A>C	ENST00000379510.3	+	8	786	c.750A>C	c.(748-750)gcA>gcC	p.A250A	CNKSR2_ENST00000543067.1_Silent_p.A250A|CNKSR2_ENST00000425654.2_Silent_p.A250A|CNKSR2_ENST00000279451.4_Silent_p.A250A	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	250	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGTCACCTGCAGATCGGTGCA	0.343																																																0													49	46	47					X																	21519646		2203	4299	6502	SO:0001819	synonymous_variant	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.750A>C	X.37:g.21519646A>C			B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	CCDS14198.1																																																																																				0.343	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		C	21519646	A	C	21519646	2	2	228	1	0	0	0	0	0	0	0	1	3609	175	7	5		5	CNKSR2	23	21519646	Silent	SNP	A	TCGA-B0-5712-01A-11D-1669-08		21519646	133750914	105	13853											
GK	2710	broad.mit.edu	37	X	30738149	30738149	+	Silent	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:30738149G>A	ENST00000378943.3	+	15	1334	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	GK_ENST00000378946.3_Silent_p.Q391Q|GK_ENST00000378945.3_Silent_p.Q385Q|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Silent_p.Q186Q	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	391					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						GACTCACTCAGTTCACCAATA	0.333																																																0													112	94	100					X																	30738149		2202	4300	6502	SO:0001819	synonymous_variant	2710			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"Glycerol kinases"	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1155G>A	X.37:g.30738149G>A			A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Silent	SNP	ENST00000378943.3	37	CCDS48090.1																																																																																				0.333	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		A	30738149	G	A	30738149	2	1	228	1	0	0	0	0	0	0	0	1	6422	1020	36	2		2	GK	23	30738149	Silent	SNP	G	TCGA-B0-5712-01A-11D-1669-08	9218503	30738149	124532411	106	13854											
HUWE1	10075	broad.mit.edu	37	X	53563622	53563622	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:53563622T>C	ENST00000342160.3	-	78	12601	c.12144A>G	c.(12142-12144)atA>atG	p.I4048M	HUWE1_ENST00000262854.6_Missense_Mutation_p.I4048M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4048	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTTCAAATACTATATACCTGC	0.463																																																0													32	30	31					X																	53563622		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12144A>G	X.37:g.53563622T>C	ENSP00000340648:p.Ile4048Met		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.664|9.664	1.144795|1.144795	0.21288|0.21288	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.54279|.	0.58;0.58|.	5.38|5.38	4.17|4.17	0.49024|0.49024	HECT (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75845|0.75845	0.3905|0.3905	M|M	0.89715|0.89715	3.055|3.055	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.71674|.	0.988;0.998|.	D;D|.	0.81914|.	0.961;0.995|.	T|T	0.75750|0.75750	-0.3208|-0.3208	10|5	0.87932|.	D|.	0|.	.|.	6.6401|6.6401	0.22904|0.22904	0.1541:0.0:0.157:0.6889|0.1541:0.0:0.157:0.6889	.|.	4048;4032|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	M|G	4048|3082;871	ENSP00000340648:I4048M;ENSP00000262854:I4048M|.	ENSP00000262854:I4048M|.	I|S	-|-	3|1	3|0	HUWE1|HUWE1	53580347|53580347	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	0.703000|0.703000	0.25646|0.25646	0.742000|0.742000	0.32697|0.32697	0.412000|0.412000	0.27726|0.27726	ATA|AGT		0.463	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		C	53563622	T	C	53563622	3	2	228	1	0	0	0	0	1	0	0	0	7463	1512	53	3	1004	3	HUWE1	23	53563622	Missense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08	22825473	53563622	101706938	107	13855											
EFNB1	1947	broad.mit.edu	37	X	68060246	68060246	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:68060246A>T	ENST00000204961.4	+	5	1570	c.790A>T	c.(790-792)Aag>Tag	p.K264*		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	264					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CCTACTACTGAAGCTACGCAA	0.617																																																0													50	45	47					X																	68060246		2203	4300	6503	SO:0001587	stop_gained	1947			U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"Ephrins"	3226	protein-coding gene	gene with protein product		300035	"craniofrontonasal syndrome (craniofrontonasal dysplasia)"	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.790A>T	X.37:g.68060246A>T	ENSP00000204961:p.Lys264*		D3DVU0	Nonsense_Mutation	SNP	ENST00000204961.4	37	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	A	43	10.250577	0.99368	.	.	ENSG00000090776	ENST00000204961	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.7206	11.6263	0.51147	1.0:0.0:0.0:0.0	.	.	.	.	X	264	.	ENSP00000204961:K264X	K	+	1	0	EFNB1	67976971	1.000000	0.71417	0.902000	0.35471	0.910000	0.53928	8.703000	0.91344	1.873000	0.54277	0.430000	0.28490	AAG		0.617	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		T	68060246	A	T	68060246	4	4	228	1	0	0	0	0	0	1	0	0	4957	247	9	5	808	5	EFNB1	23	68060246	Nonsense_Mutation	SNP	A	TCGA-B0-5712-01A-11D-1669-08	14496624	68060246	87210314	108	13856											
ERCC6L	54821	broad.mit.edu	37	X	71427585	71427585	+	Silent	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:71427585T>C	ENST00000334463.3	-	2	1167	c.1032A>G	c.(1030-1032)agA>agG	p.R344R	ERCC6L_ENST00000373657.1_Silent_p.R221R|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	344					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTTCATTAAGTCTGGCCTCTG	0.358																																																0													158	156	156					X																	71427585		2200	4296	6496	SO:0001819	synonymous_variant	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1032A>G	X.37:g.71427585T>C			Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	CCDS35329.1																																																																																				0.358	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		C	71427585	T	C	71427585	2	2	228	1	0	0	0	0	0	0	0	1	5220	1664	58	3		3	ERCC6L	23	71427585	Silent	SNP	T	TCGA-B0-5712-01A-11D-1669-08	3367339	71427585	83842975	109	13857											
KLHL13	90293	broad.mit.edu	37	X	117043342	117043342	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:117043342T>C	ENST00000262820.3	-	5	2197	c.1288A>G	c.(1288-1290)Aag>Gag	p.K430E	KLHL13_ENST00000371878.1_Missense_Mutation_p.K379E|KLHL13_ENST00000540167.1_Missense_Mutation_p.K414E|KLHL13_ENST00000371882.1_Missense_Mutation_p.K379E|KLHL13_ENST00000539496.1_Missense_Mutation_p.K433E|KLHL13_ENST00000371876.1_Missense_Mutation_p.K379E|KLHL13_ENST00000469946.1_Missense_Mutation_p.K379E|KLHL13_ENST00000545703.1_Missense_Mutation_p.K388E|KLHL13_ENST00000541812.1_Missense_Mutation_p.K414E	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	430					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAGGTGCGCTTTTCATTTAAA	0.398																																																0													67	56	60					X																	117043342		2203	4300	6503	SO:0001583	missense	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1288A>G	X.37:g.117043342T>C	ENSP00000262820:p.Lys430Glu		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193245	0.78902	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.02	5.02	0.67125	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	L	0.45352	1.415	0.80722	D	1	P;D;P;P	0.55385	0.544;0.971;0.544;0.599	B;P;B;P	0.54629	0.316;0.757;0.343;0.574	T	0.70757	-0.4785	10	0.45353	T	0.12	.	13.8251	0.63346	0.0:0.0:0.0:1.0	.	414;433;424;430	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	E	379;379;379;379;414;414;433;430;388;379	ENSP00000360949:K379E;ENSP00000360943:K379E;ENSP00000360945:K379E;ENSP00000412640:K379E;ENSP00000444450:K414E;ENSP00000441029:K414E;ENSP00000443191:K433E;ENSP00000262820:K430E;ENSP00000440707:K388E;ENSP00000419803:K379E	ENSP00000262820:K430E	K	-	1	0	KLHL13	116927370	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	1.838000	0.53458	0.481000	0.45027	AAG		0.398	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		C	117043342	T	C	117043342	3	2	228	1	0	0	0	0	1	0	0	0	8371	1850	64	3	691	3	KLHL13	23	117043342	Missense_Mutation	SNP	T	TCGA-B0-5712-01A-11D-1669-08	45615757	117043342	38227218	110	13858											
THOC2	57187	broad.mit.edu	37	X	122748006	122748007	+	Frame_Shift_Ins	INS	-	-	TGGACAGTGG			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:122748006_122748007insTGGACAGTGG	ENST00000245838.8	-	34	4376_4377	c.4345_4346insCCACTGTCCA	c.(4345-4347)aagfs	p.K1449fs	THOC2_ENST00000491737.1_Frame_Shift_Ins_p.K1334fs|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.K1449fs|THOC2_ENST00000497887.1_5'UTR	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1449	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCCTTACTCTTGGACAGTGGT	0.361																																																0																																										SO:0001589	frameshift_variant	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4336_4345dupCCACTGTCCA	X.37:g.122748007_122748016dupTGGACAGTGG	ENSP00000245838:p.Lys1449fs		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Frame_Shift_Ins	INS	ENST00000245838.8	37	CCDS43988.1																																																																																				0.361	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			TGGACAGTGG	122748007	-	TGGACAGTGG	122748006	7	5	228	1	0	1	1	0	0	0	0	0	15870	1609	56	0	455	0	THOC2	23	122748006	Frame_Shift_Ins	INS	-	TCGA-B0-5712-01A-11D-1669-08	5704664	122748006	32522554	111	13859											
STAG2	10735	broad.mit.edu	37	X	123200270	123200280	+	Frame_Shift_Del	DEL	AAAGCAGCTCT	AAAGCAGCTCT	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:123200270_123200280delAAAGCAGCTCT	ENST00000371160.1	+	23	2539_2549	c.2249_2259delAAAGCAGCTCT	c.(2248-2259)gaaagcagctctfs	p.ESSS750fs	STAG2_ENST00000371157.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.ESSS681fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.ESSS750fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	750					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAGATAACTGAAAGCAGCTCTACAAAGGTTT	0.327																																																0																																										SO:0001589	frameshift_variant	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2249_2259delAAAGCAGCTCT	X.37:g.123200270_123200280delAAAGCAGCTCT	ENSP00000360202:p.Glu750fs		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	CCDS14607.1																																																																																				0.327	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		-	123200280	AAAGCAGCTCT	-	123200270	7	5	228	1	0	1	0	1	0	0	0	0	15248	246	9	0	2331	0	STAG2	23	123200270	Frame_Shift_Del	DEL	AAAGCAGCTCT	TCGA-B0-5712-01A-11D-1669-08	452264	123200270	32070290	112	13860											
ODZ1	10178	broad.mit.edu	37	X	123517773	123517773	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:123517773G>T	ENST00000371130.3	-	29	7050	c.6987C>A	c.(6985-6987)agC>agA	p.S2329R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.S2336R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2329					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCTGACCTCGGCTGCTGAACA	0.433																																																0													93	84	87					X																	123517773		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6987C>A	X.37:g.123517773G>T	ENSP00000360171:p.Ser2329Arg		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292618	0.40594	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86432	-2.12;-2.08	5.88	1.43	0.22495	.	0.000000	0.85682	D	0.000000	D	0.90854	0.7127	M	0.72479	2.2	0.58432	D	0.999995	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.80764	0.986;0.994;0.988	D	0.86589	0.1859	10	0.27785	T	0.31	.	11.0082	0.47646	0.4146:0.0:0.5854:0.0	.	2335;2336;2329	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	2329;2336	ENSP00000360171:S2329R;ENSP00000403954:S2336R	ENSP00000360171:S2329R	S	-	3	2	ODZ1	123345454	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	1.159000	0.31749	-0.195000	0.10382	-0.340000	0.08031	AGC		0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123517773	G	T	123517773	3	4	228	1	0	0	0	0	1	0	0	0	10836	1194	42	4	1202	4	ODZ1	23	123517773	Missense_Mutation	SNP	G	TCGA-B0-5712-01A-11D-1669-08	317503	123517773	31752787	113	13861											
CDR1	1038	broad.mit.edu	37	X	139866077	139866077	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:139866077C>T	ENST00000370532.2	-	1	646	c.455G>A	c.(454-456)aGa>aAa	p.R152K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	152	6 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCTGAAAATCTACGTCTTCC	0.443																																																0													129	135	133					X																	139866077		2202	4300	6502	SO:0001583	missense	1038				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.455G>A	X.37:g.139866077C>T	ENSP00000359563:p.Arg152Lys		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574350	0.45902	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.48	-1.37	0.09056	.	.	.	.	.	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	B	0.30406	0.278	B	0.26416	0.069	T	0.25779	-1.0122	7	.	.	.	.	8.5906	0.33686	0.2698:0.3405:0.3896:0.0	.	152	P51861	CDR1_HUMAN	K	152	.	.	R	-	2	0	CDR1	139693743	0.164000	0.22935	0.000000	0.03702	0.341000	0.28922	2.412000	0.44609	-0.563000	0.06078	0.422000	0.28245	AGA		0.443	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		T	139866077	C	T	139866077	3	4	228	1	0	0	0	0	1	0	0	0	3173	913	32	2	337	2	CDR1	23	139866077	Missense_Mutation	SNP	C	TCGA-B0-5712-01A-11D-1669-08	16348304	139866077	15404483	114	13862											
RER1	11079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	2333758	2333758	+	Missense_Mutation	SNP	A	A	G	rs367686071		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:2333758A>G	ENST00000605895.1	+	6	611	c.478A>G	c.(478-480)Atc>Gtc	p.I160V	RER1_ENST00000378513.3_3'UTR|RER1_ENST00000378512.1_3'UTR|RER1_ENST00000488353.1_Missense_Mutation_p.I160V|RER1_ENST00000378518.1_3'UTR	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	160				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)		p.I160V(1)		endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GCTCTTCTGTATCACGATGAA	0.552													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18088	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						A	VAL/ILE	1,4149		0,1,2074	132	133	133		478	5.2	1	1		133	0,8444		0,0,4222	no	missense	RER1	NM_007033.4	29	0,1,6296	GG,GA,AA		0.0,0.0241,0.0079	benign	160/197	2333758	1,12593	2075	4222	6297	SO:0001583	missense	11079			AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.478A>G	1.37:g.2333758A>G	ENSP00000475168:p.Ile160Val		O95322	Missense_Mutation	SNP	ENST00000605895.1	37	CCDS41232.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.105521	0.56291	2.41E-4	0.0	ENSG00000157916	ENST00000306256;ENST00000434662	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	L	0.38733	1.17	0.80722	D	1	B	0.21225	0.053	B	0.28916	0.096	T	0.55780	-0.8087	9	0.54805	T	0.06	.	14.2383	0.65941	1.0:0.0:0.0:0.0	.	160	O15258	RER1_HUMAN	V	160	.	ENSP00000302088:I160V	I	+	1	0	RER1	2323618	1.000000	0.71417	0.999000	0.59377	0.755000	0.42902	8.127000	0.89593	1.979000	0.57680	0.383000	0.25322	ATC		0.552	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			G	2333758	A	G	2333758	3	3	229	1	0	0	0	0	1	0	0	0	13236	449	16	3	496	3	RER1	1	2333758	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08		2333758	246916863	1	13863											
ARID1A	8289	hgsc.bcm.edu;ucsc.edu	37	1	27105569	27105570	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	TC	TC	TC	-	TC	TC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:27105569_27105570delTC	ENST00000324856.7	+	20	5551_5552	c.5180_5181delTC	c.(5179-5181)atcfs	p.I1727fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.I1510fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.I55fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.I1344fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1727					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1729fs*7(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTGATTGAGATCTTTGGCATTT	0.475			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5180_5181delTC	1.37:g.27105569_27105570delTC	ENSP00000320485:p.Ile1727fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																				0.475	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		-	27105570	TC	-	27105569	7	5	229	1	0	1	0	1	0	0	0	0	913	1435	50	0	5258	0	ARID1A	1	27105569	Frame_Shift_Del	DEL	TC	TCGA-B0-5713-01A-11D-1669-08	24771811	27105569	222145052	2	13864											
MSH4	4438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	76262748	76262748	+	Silent	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:76262748T>C	ENST00000263187.3	+	1	182	c.78T>C	c.(76-78)ccT>ccC	p.P26P		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	26					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.P26P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCCGCTCACCTCAGGGTCCCC	0.632								Mismatch excision repair (MMR)																																								1	Substitution - coding silent(1)	kidney(1)											32	34	33					1																	76262748		2203	4300	6503	SO:0001819	synonymous_variant	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.78T>C	1.37:g.76262748T>C			Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	CCDS670.1																																																																																				0.632	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		C	76262748	T	C	76262748	2	2	229	1	0	0	0	0	0	0	0	1	9874	1538	54	3		3	MSH4	1	76262748	Silent	SNP	T	TCGA-B0-5713-01A-11D-1669-08	49157179	76262748	172987873	3	13865											
LPPR4	9890	broad.mit.edu;ucsc.edu	37	1	99767414	99767414	+	Silent	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:99767414T>C	ENST00000370185.3	+	6	1424	c.927T>C	c.(925-927)taT>taC	p.Y309Y	LPPR4_ENST00000370184.1_Silent_p.Y151Y|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		309					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.Y309Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTGATGTCTATTGTGGCTTTT	0.358																																																1	Substitution - coding silent(1)	kidney(1)											142	137	139					1																	99767414		2203	4300	6503	SO:0001819	synonymous_variant	9890																														ENST00000370185.3:c.927T>C	1.37:g.99767414T>C			E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	CCDS757.1																																																																																				0.358	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			C	99767414	T	C	99767414	2	2	229	1	0	0	0	0	0	0	0	1	8929	1500	52	3		3	LPPR4	1	99767414	Silent	SNP	T	TCGA-B0-5713-01A-11D-1669-08	23504666	99767414	149483207	4	13866											
GON4L	54856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155747557	155747557	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:155747557C>A	ENST00000368331.1	-	15	1995	c.1947G>T	c.(1945-1947)gaG>gaT	p.E649D	GON4L_ENST00000361040.5_Missense_Mutation_p.E649D|GON4L_ENST00000437809.1_Missense_Mutation_p.E649D|GON4L_ENST00000271883.5_Missense_Mutation_p.E649D|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	649					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E649D(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTCAAATAGCTCCTTCACTG	0.443																																																3	Substitution - Missense(3)	kidney(3)											147	128	135					1																	155747557		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1947G>T	1.37:g.155747557C>A	ENSP00000357315:p.Glu649Asp		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.072007	0.76415	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.13657	2.76;2.76;2.76;2.57	5.34	3.47	0.39725	.	0.061949	0.64402	D	0.000005	T	0.13030	0.0316	L	0.41236	1.265	0.33437	D	0.58188	D;D;D;D;D	0.76494	0.991;0.999;0.999;0.998;0.999	P;D;D;D;D	0.81914	0.846;0.958;0.972;0.99;0.995	T	0.04333	-1.0959	10	0.40728	T	0.16	.	8.8714	0.35318	0.0:0.7705:0.0:0.2295	.	429;649;649;649;649	Q6PHZ4;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	D	649;649;649;649;649;128	ENSP00000396117:E649D;ENSP00000357315:E649D;ENSP00000271883:E649D;ENSP00000354322:E649D	ENSP00000271883:E649D	E	-	3	2	GON4L	154014181	0.943000	0.32029	0.998000	0.56505	0.981000	0.71138	-0.052000	0.11865	0.655000	0.30866	0.580000	0.79431	GAG		0.443	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		A	155747557	C	A	155747557	3	1	229	1	0	0	0	0	1	0	0	0	6574	796	28	4	4964	4	GON4L	1	155747557	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	55980143	155747557	93503064	5	13867											
PPFIA4	8497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203024644	203024644	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:203024644delA	ENST00000447715.2	+	21	2289	c.1848delA	c.(1846-1848)ctafs	p.L616fs	PPFIA4_ENST00000272198.6_Frame_Shift_Del_p.L132fs|PPFIA4_ENST00000295706.4_Frame_Shift_Del_p.L132fs|PPFIA4_ENST00000414050.2_Frame_Shift_Del_p.L345fs|PPFIA4_ENST00000599966.1_Frame_Shift_Del_p.L132fs|PPFIA4_ENST00000367240.2_Frame_Shift_Del_p.L617fs			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	616					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGAAGCCCTAAACCTGAAGC	0.622																																																0													68	79	76					1																	203024644		2134	4239	6373	SO:0001589	frameshift_variant	8497			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.1848delA	1.37:g.203024644delA	ENSP00000402576:p.Leu616fs		A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Frame_Shift_Del	DEL	ENST00000447715.2	37																																																																																					0.622	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		-	203024644	A	-	203024644	7	5	229	1	0	1	0	1	0	0	0	0	12314	349	13	0	406	0	PPFIA4	1	203024644	Frame_Shift_Del	DEL	A	TCGA-B0-5713-01A-11D-1669-08	47277087	203024644	46225977	6	13868											
FMOD	2331	broad.mit.edu;ucsc.edu	37	1	203316461	203316461	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:203316461G>T	ENST00000354955.4	-	2	1401	c.938C>A	c.(937-939)aCc>aAc	p.T313N	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	313					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.T313N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCCAGGTTGGTGTTGACTGG	0.522																																																1	Substitution - Missense(1)	kidney(1)											141	131	135					1																	203316461		2203	4300	6503	SO:0001583	missense	2331			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.938C>A	1.37:g.203316461G>T	ENSP00000347041:p.Thr313Asn		Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629856	0.46944	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.04970	3.52	5.27	4.35	0.52113	.	0.053102	0.64402	D	0.000001	T	0.11410	0.0278	N	0.20845	0.615	0.47276	D	0.999376	D	0.69078	0.997	D	0.65874	0.939	T	0.35226	-0.9797	10	0.21540	T	0.41	-5.1135	14.7297	0.69372	0.0:0.1455:0.8545:0.0	.	313	Q06828	FMOD_HUMAN	N	300;313	ENSP00000347041:T313N	ENSP00000347041:T313N	T	-	2	0	FMOD	201583084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.313000	0.51935	1.210000	0.43336	0.655000	0.94253	ACC		0.522	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		T	203316461	G	T	203316461	3	4	229	1	0	0	0	0	1	0	0	0	5961	1261	44	4	200	4	FMOD	1	203316461	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	291817	203316461	45934160	7	13869											
RAD51AP2	729475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	17699551	17699551	+	Silent	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr2:17699551G>T	ENST00000399080.2	-	1	155	c.132C>A	c.(130-132)gtC>gtA	p.V44V		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	44								p.V44V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCGCCTTAAAGACACCTCCAG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											72	76	75					2																	17699551		1901	4114	6015	SO:0001819	synonymous_variant	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.132C>A	2.37:g.17699551G>T				Silent	SNP	ENST00000399080.2	37	CCDS42656.1																																																																																				0.572	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		T	17699551	G	T	17699551	2	4	229	1	0	0	0	0	0	0	0	1	12993	929	33	4		4	RAD51AP2	2	17699551	Silent	SNP	G	TCGA-B0-5713-01A-11D-1669-08		17699551	225499822	8	13870											
NRBP1	29959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27656879	27656879	+	Silent	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr2:27656879T>C	ENST00000233557.3	+	5	1189	c.357T>C	c.(355-357)gaT>gaC	p.D119D	NRBP1_ENST00000379863.3_Silent_p.D119D|NRBP1_ENST00000379852.3_Silent_p.D119D			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.D119D(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTGTGTTTGATAATCTGATTC	0.388																																																1	Substitution - coding silent(1)	kidney(1)											260	273	269					2																	27656879		2203	4300	6503	SO:0001819	synonymous_variant	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.357T>C	2.37:g.27656879T>C			B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	CCDS1753.1																																																																																				0.388	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		C	27656879	T	C	27656879	2	2	229	1	0	0	0	0	0	0	0	1	10644	1403	49	3		3	NRBP1	2	27656879	Silent	SNP	T	TCGA-B0-5713-01A-11D-1669-08	9957328	27656879	215542494	9	13871											
PTPN18	26469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	131116984	131116984	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr2:131116984C>T	ENST00000175756.5	+	4	395	c.294C>T	c.(292-294)agC>agT	p.S98S	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	98	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.S98S(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TGGATGGAAGCCTGGCCTACA	0.617																																																1	Substitution - coding silent(1)	kidney(1)											99	89	92					2																	131116984		2203	4300	6503	SO:0001819	synonymous_variant	26469			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.294C>T	2.37:g.131116984C>T			B4E1E6|Q53P42	Silent	SNP	ENST00000175756.5	37	CCDS2161.1																																																																																				0.617	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			T	131116984	C	T	131116984	2	4	229	1	0	0	0	0	0	0	0	1	12790	738	26	2		2	PTPN18	2	131116984	Silent	SNP	C	TCGA-B0-5713-01A-11D-1669-08	103460105	131116984	112082389	10	13872											
TMEM169	92691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	216965265	216965265	+	Nonstop_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr2:216965265A>T	ENST00000295658.4	+	3	1101	c.894A>T	c.(892-894)taA>taT	p.*298Y	TMEM169_ENST00000454545.1_Nonstop_Mutation_p.*298Y|TMEM169_ENST00000406027.2_Nonstop_Mutation_p.*298Y|TMEM169_ENST00000437356.2_Nonstop_Mutation_p.*298Y	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	0						integral component of membrane (GO:0016021)		p.*298Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACGGTCTAAACTCCCAACA	0.453																																																1	Nonstop extension(1)	kidney(1)											73	81	78					2																	216965265		2203	4300	6503	SO:0001578	stop_lost	92691			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.894A>T	2.37:g.216965265A>T	ENSP00000295658:p.*298Tyrext*18		B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.594170	0.46214	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	5.08	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1152	0.30940	0.832:0.0:0.168:0.0	.	.	.	.	Y	298	.	.	X	+	3	2	TMEM169	216673510	1.000000	0.71417	0.237000	0.24090	0.991000	0.79684	6.327000	0.72910	0.411000	0.25702	0.533000	0.62120	TAA		0.453	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		T	216965265	A	T	216965265	4	4	229	1	0	0	0	0	0	0	0	0	16089	21	1	5	900	5	TMEM169	2	216965265	Nonstop_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	85848281	216965265	26234108	11	13873											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191469	10191469	+	Splice_Site	SNP	A	A	G	rs5030816		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:10191469A>G	ENST00000256474.2	+	3	1303		c.e3-1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(8)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTGCCCTTCCAGTGTATACTC	0.498		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Unknown(8)	kidney(7)|adrenal_gland(1)	GRCh37	CS941546|CS961704|CS961705	VHL	S	rs5030816						87	79	82					3																	10191469		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.464-1A>G	3.37:g.10191469A>G			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147006	0.37923	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2441	0.54560	1.0:0.0:0.0:0.0	rs5030816	.	.	.	.	-1	.	.	.	+	.	.	VHL	10166469	1.000000	0.71417	0.996000	0.52242	0.357000	0.29423	6.694000	0.74587	2.052000	0.61016	0.533000	0.62120	.		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	G	10191469	A	G	10191469	5	3	229	1	0	0	0	0	0	0	1	0	17167	202	7	3	472	3	VHL	3	10191469	Splice_Site	SNP	A	TCGA-B0-5713-01A-11D-1669-08		10191469	187830961	12	13874											
GPR62	118442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	51990645	51990645	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:51990645T>A	ENST00000322241.4	+	1	1316	c.977T>A	c.(976-978)cTc>cAc	p.L326H		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	326						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.L326H(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGCGGGCACTCTTGCAATGC	0.706																																																1	Substitution - Missense(1)	kidney(1)											13	17	16					3																	51990645		2187	4274	6461	SO:0001583	missense	118442			AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"GPCR / Class A : Orphans"	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.977T>A	3.37:g.51990645T>A	ENSP00000319250:p.Leu326His		F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	37	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016468	0.54468	.	.	ENSG00000180929	ENST00000322241	T	0.03635	3.86	4.98	4.98	0.66077	.	0.304822	0.17819	U	0.160925	T	0.05364	0.0142	L	0.29908	0.895	0.34722	D	0.728825	D	0.56287	0.975	P	0.49708	0.62	T	0.52764	-0.8532	10	0.20046	T	0.44	-32.8335	12.1802	0.54208	0.0:0.0:0.0:1.0	.	326	Q9BZJ7	GPR62_HUMAN	H	326	ENSP00000319250:L326H	ENSP00000319250:L326H	L	+	2	0	GPR62	51965685	0.966000	0.33281	0.012000	0.15200	0.278000	0.26855	3.817000	0.55668	1.862000	0.54008	0.459000	0.35465	CTC		0.706	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1			A	51990645	T	A	51990645	3	1	229	1	0	0	0	0	1	0	0	0	6705	1551	54	5	979	5	GPR62	3	51990645	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08	41799176	51990645	146031785	13	13875											
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52678783	52678784	+	Frame_Shift_Ins	INS	-	-	T	rs369874660		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:52678783_52678784insT	ENST00000296302.7	-	8	836_837	c.835_836insA	c.(835-837)atafs	p.I279fs	PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.I279fs			Q86U86	PB1_HUMAN	polybromo 1	279					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I279fs*4(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		Catataaaatatttttttaatt	0.361			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	7	Deletion - Frameshift(7)	kidney(7)																																								SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.836dupA	3.37:g.52678790_52678790dupT	ENSP00000296302:p.Ile279fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																					0.361	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52678784	-	T	52678783	7	5	229	1	0	1	1	0	0	0	0	0	11493	449	16	0	4156	0	PBRM1	3	52678783	Frame_Shift_Ins	INS	-	TCGA-B0-5713-01A-11D-1669-08	688138	52678783	145343647	14	13876											
KBTBD8	84541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	67058722	67058722	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:67058722G>C	ENST00000417314.2	+	4	1768	c.1719G>C	c.(1717-1719)gaG>gaC	p.E573D	KBTBD8_ENST00000295568.4_Missense_Mutation_p.E547D|KBTBD8_ENST00000460576.1_Missense_Mutation_p.E131D			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	573						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.E573D(1)|p.E547D(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAGTGTATGAGACCCCAGATC	0.448																																																2	Substitution - Missense(2)	kidney(2)											80	80	80					3																	67058722		2203	4300	6503	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1719G>C	3.37:g.67058722G>C	ENSP00000401878:p.Glu573Asp		B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	9.882	1.201980	0.22121	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.67171	-0.25;-0.25;-0.25	5.37	2.6	0.31112	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	N	0.08118	0	0.46564	D	0.999104	P;P	0.49961	0.915;0.93	P;P	0.48627	0.522;0.584	T	0.29058	-1.0024	10	0.21540	T	0.41	.	7.8156	0.29258	0.3865:0.0:0.6135:0.0	.	131;573	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	D	547;131;573	ENSP00000295568:E547D;ENSP00000419738:E131D;ENSP00000401878:E573D	ENSP00000295568:E547D	E	+	3	2	KBTBD8	67141412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.503000	0.45407	0.646000	0.30693	0.650000	0.86243	GAG		0.448	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		C	67058722	G	C	67058722	3	2	229	1	0	0	0	0	1	0	0	0	8001	933	33	4	1733	4	KBTBD8	3	67058722	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	14379939	67058722	130963708	15	13877											
HGD	3081	broad.mit.edu;hgsc.bcm.edu	37	3	120369637	120369637	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:120369637T>C	ENST00000283871.5	-	6	877	c.418A>G	c.(418-420)Acc>Gcc	p.T140A	HGD_ENST00000488183.1_5'Flank	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	140					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.T140A(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TCCATGGAGGTATTGCAGAGG	0.493																																																1	Substitution - Missense(1)	kidney(1)											178	160	166					3																	120369637		2203	4296	6499	SO:0001583	missense	3081				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.418A>G	3.37:g.120369637T>C	ENSP00000283871:p.Thr140Ala		A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	T	5.352	0.250323	0.10130	.	.	ENSG00000113924	ENST00000283871;ENST00000476082	D;D	0.98792	-5.14;-5.14	6.06	0.649	0.17806	Cupin, RmlC-type (1);	0.336851	0.33834	N	0.004511	D	0.90848	0.7125	N	0.03194	-0.395	0.29231	N	0.873256	B	0.02656	0.0	B	0.01281	0.0	D	0.84871	0.0825	10	0.06494	T	0.89	-10.0713	4.057	0.09821	0.2673:0.1492:0.0:0.5835	.	140	Q93099	HGD_HUMAN	A	140;99	ENSP00000283871:T140A;ENSP00000419560:T99A	ENSP00000283871:T140A	T	-	1	0	HGD	121852327	1.000000	0.71417	0.978000	0.43139	0.735000	0.41995	2.217000	0.42880	0.153000	0.19213	-0.297000	0.09499	ACC		0.493	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			C	120369637	T	C	120369637	3	2	229	1	0	0	0	0	1	0	0	0	7086	1638	57	3	955	3	HGD	3	120369637	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08	53310915	120369637	77652793	16	13878											
ADCY5	111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	123044195	123044195	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:123044195G>T	ENST00000462833.1	-	8	3274	c.2062C>A	c.(2062-2064)Cag>Aag	p.Q688K	ADCY5_ENST00000309879.5_Missense_Mutation_p.Q338K|ADCY5_ENST00000491190.1_Missense_Mutation_p.Q321K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	688					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.Q688K(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TTGGACACCTGGTTGCCACCC	0.622																																																1	Substitution - Missense(1)	kidney(1)											97	96	96					3																	123044195		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2062C>A	3.37:g.123044195G>T	ENSP00000419361:p.Gln688Lys		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	7.344	0.621574	0.14193	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.49474	0.1559	N	0.00885	-1.115	0.45403	D	0.998389	B;B	0.29805	0.257;0.0	B;B	0.36030	0.216;0.004	T	0.58272	-0.7665	10	0.06365	T	0.9	.	13.9127	0.63878	0.0:0.0:0.848:0.152	.	688;321	O95622;B3KWA8	ADCY5_HUMAN;.	K	688;321;338;247	ENSP00000419361:Q688K;ENSP00000418537:Q321K;ENSP00000308685:Q338K;ENSP00000420082:Q247K	ENSP00000308685:Q338K	Q	-	1	0	ADCY5	124526885	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.844000	0.69430	2.728000	0.93425	0.655000	0.94253	CAG		0.622	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		T	123044195	G	T	123044195	3	4	229	1	0	0	0	0	1	0	0	0	297	1357	47	4	1779	4	ADCY5	3	123044195	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	2674558	123044195	74978235	17	13879											
TOPBP1	11073	broad.mit.edu;hgsc.bcm.edu	37	3	133329915	133329915	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:133329915C>A	ENST00000260810.5	-	25	4237	c.4106G>T	c.(4105-4107)aGa>aTa	p.R1369I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1369					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.R1282I(1)|p.R1369I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAGTGCTAGTCTTCGTTGCTG	0.368								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)											2	Substitution - Missense(2)	kidney(2)											217	210	213					3																	133329915		1891	4110	6001	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4106G>T	3.37:g.133329915C>A	ENSP00000260810:p.Arg1369Ile		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753338	0.49362	.	.	ENSG00000163781	ENST00000260810	T	0.12147	2.71	5.27	-2.15	0.07102	BRCT (1);	0.321794	0.41605	D	0.000851	T	0.07638	0.0192	L	0.40543	1.245	0.53005	D	0.999966	B	0.20780	0.048	B	0.15870	0.014	T	0.39663	-0.9603	10	0.07644	T	0.81	.	7.7767	0.29041	0.1351:0.1501:0.0:0.7149	.	1369	Q92547	TOPB1_HUMAN	I	1369	ENSP00000260810:R1369I	ENSP00000260810:R1369I	R	-	2	0	TOPBP1	134812605	0.982000	0.34865	0.973000	0.42090	0.956000	0.61745	0.154000	0.16343	-0.283000	0.09115	-0.216000	0.12614	AGA		0.368	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		A	133329915	C	A	133329915	3	1	229	1	0	0	0	0	1	0	0	0	16374	913	32	4	478	4	TOPBP1	3	133329915	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	10285720	133329915	64692515	18	13880											
PLD1	5337	broad.mit.edu;hgsc.bcm.edu	37	3	171377081	171377081	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:171377081A>T	ENST00000351298.4	-	21	2477	c.2351T>A	c.(2350-2352)tTc>tAc	p.F784Y	PLD1_ENST00000340989.4_Missense_Mutation_p.F784Y|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Missense_Mutation_p.F746Y	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	784	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.F784Y(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACAGCTTATGAAAAACTGGTT	0.353																																					NSCLC(149;2174 3517 34058)											1	Substitution - Missense(1)	kidney(1)											128	129	129					3																	171377081		2203	4300	6503	SO:0001583	missense	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2351T>A	3.37:g.171377081A>T	ENSP00000342793:p.Phe784Tyr			Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.178458|5.178458	0.94846|0.94846	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989|ENST00000446289	T;T;T|.	0.30448|.	1.53;1.53;1.53|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87775|0.87775	0.6262|0.6262	H|H	0.96633|0.96633	3.855|3.855	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.63880|.	0.968;0.991;0.993;0.94|.	D;D;D;D|.	0.68621|.	0.931;0.931;0.959;0.931|.	D|D	0.91719|0.91719	0.5387|0.5387	10|5	0.72032|.	D|.	0.01|.	-20.3084|-20.3084	14.8791|14.8791	0.70519|0.70519	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	746;784;769;784|.	Q13393-2;Q13393-4;Q59EA4;Q13393|.	.;.;.;PLD1_HUMAN|.	Y|T	746;784;784|47	ENSP00000348681:F746Y;ENSP00000342793:F784Y;ENSP00000340326:F784Y|.	ENSP00000340326:F784Y|.	F|S	-|-	2|1	0|0	PLD1|PLD1	172859775|172859775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.494000|8.494000	0.90477|0.90477	2.163000|2.163000	0.67991|0.67991	0.460000|0.460000	0.39030|0.39030	TTC|TCA		0.353	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		T	171377081	A	T	171377081	3	4	229	1	0	0	0	0	1	0	0	0	12047	246	9	5	901	5	PLD1	3	171377081	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	38047166	171377081	26645349	19	13881											
PIK3CA	5290	broad.mit.edu	37	3	178952077	178952077	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:178952077T>A	ENST00000263967.3	+	21	3289	c.3132T>A	c.(3130-3132)aaT>aaA	p.N1044K	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1044	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N1044K(14)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AACAAATGAATGATGCACATC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	14	Substitution - Missense(14)	endometrium(7)|breast(3)|kidney(2)|ovary(1)|large_intestine(1)											99	89	92					3																	178952077		1910	4124	6034	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3132T>A	3.37:g.178952077T>A	ENSP00000263967:p.Asn1044Lys		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023845	0.54683	.	.	ENSG00000121879	ENST00000263967	T	0.81078	-1.45	6.08	3.62	0.41486	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	N	0.17723	0.515	0.80722	D	1	D	0.54207	0.965	P	0.50082	0.63	T	0.67444	-0.5669	10	0.22706	T	0.39	-24.648	11.0342	0.47791	0.0:0.1289:0.0:0.8711	.	1044	P42336	PK3CA_HUMAN	K	1044	ENSP00000263967:N1044K	ENSP00000263967:N1044K	N	+	3	2	PIK3CA	180434771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.521000	0.35910	1.088000	0.41272	0.482000	0.46254	AAT		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178952077	T	A	178952077	3	1	229	1	0	0	0	0	1	0	0	0	11915	1461	51	5	3210	5	PIK3CA	3	178952077	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08	7574996	178952077	19070353	20	13882											
KNG1	3827	hgsc.bcm.edu;ucsc.edu	37	3	186460113	186460114	+	Frame_Shift_Del	DEL	TT	TT	-	rs373927173		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:186460113_186460114delTT	ENST00000265023.4	+	10	2140_2141	c.1928_1929delTT	c.(1927-1929)cttfs	p.L643fs	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	643					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		ACTGATGGCCTTTCTTAATTTA	0.371																																																0																																										SO:0001589	frameshift_variant	3827				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1928_1929delTT	3.37:g.186460113_186460114delTT	ENSP00000265023:p.Leu643fs		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Frame_Shift_Del	DEL	ENST00000265023.4	37	CCDS43183.1																																																																																				0.371	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		-	186460114	TT	-	186460113	7	5	229	1	0	1	0	1	0	0	0	0	8429	1609	56	0	1966	0	KNG1	3	186460113	Frame_Shift_Del	DEL	TT	TCGA-B0-5713-01A-11D-1669-08	7508036	186460113	11562317	21	13883											
BCL6	604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	187447399	187447399	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:187447399A>T	ENST00000406870.2	-	5	1160	c.794T>A	c.(793-795)aTc>aAc	p.I265N	BCL6_ENST00000450123.2_Missense_Mutation_p.I265N|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.I265N	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	265					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I265N(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTCTTCTGGGATTGTTTCCTT	0.557			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	1	Substitution - Missense(1)	kidney(1)											75	77	76					3																	187447399		2203	4300	6503	SO:0001583	missense	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.794T>A	3.37:g.187447399A>T	ENSP00000384371:p.Ile265Asn		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	A	9.266	1.044450	0.19748	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08193	3.12;3.12;3.13	5.61	2.45	0.29901	.	0.479884	0.23914	N	0.043302	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.11329	0.0;0.006	T	0.41662	-0.9496	10	0.25751	T	0.34	.	3.7355	0.08508	0.2798:0.2032:0.5171:0.0	.	265;265	B8PSA7;P41182	.;BCL6_HUMAN	N	265	ENSP00000384371:I265N;ENSP00000232014:I265N;ENSP00000413122:I265N	ENSP00000232014:I265N	I	-	2	0	BCL6	188930093	0.017000	0.18338	0.001000	0.08648	0.926000	0.56050	1.203000	0.32284	0.248000	0.21435	0.459000	0.35465	ATC		0.557	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		T	187447399	A	T	187447399	3	4	229	1	0	0	0	0	1	0	0	0	1376	333	12	5	1350	5	BCL6	3	187447399	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	987286	187447399	10575031	22	13884											
THAP9	79725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83838698	83838698	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr4:83838698G>A	ENST00000302236.5	+	5	1384	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	445					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.V445M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCAGCACCTCGTGGAGTTAGT	0.353																																																1	Substitution - Missense(1)	kidney(1)											61	64	63					4																	83838698		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1333G>A	4.37:g.83838698G>A	ENSP00000305533:p.Val445Met		B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801250	0.31869	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90844	-2.74	3.87	3.87	0.44632	.	0.157469	0.30011	N	0.010629	D	0.92506	0.7620	L	0.55990	1.75	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	D	0.92147	0.5725	10	0.48119	T	0.1	-15.0565	14.1522	0.65392	0.0:0.0:1.0:0.0	.	445	Q9H5L6	THAP9_HUMAN	M	445	ENSP00000305533:V445M	ENSP00000305533:V445M	V	+	1	0	THAP9	84057722	1.000000	0.71417	0.993000	0.49108	0.022000	0.10575	4.068000	0.57534	2.450000	0.82876	0.655000	0.94253	GTG		0.353	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		A	83838698	G	A	83838698	3	1	229	1	0	0	0	0	1	0	0	0	15856	1145	40	1	1351	1	THAP9	4	83838698	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08		83838698	107315578	23	13885											
MAPK10	5602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87023072	87023072	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr4:87023072A>G	ENST00000359221.3	-	7	1065	c.539T>C	c.(538-540)cTc>cCc	p.L180P	MAPK10_ENST00000395161.2_Missense_Mutation_p.L180P|MAPK10_ENST00000513839.1_5'Flank|MAPK10_ENST00000395157.3_Missense_Mutation_p.L35P|MAPK10_ENST00000395160.3_Missense_Mutation_p.L35P|MAPK10_ENST00000361569.2_Missense_Mutation_p.L180P|MAPK10_ENST00000395169.3_Missense_Mutation_p.L142P|MAPK10_ENST00000395166.1_Missense_Mutation_p.L142P|MAPK10_ENST00000449047.2_Missense_Mutation_p.L35P			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)	p.L35P(1)|p.L180P(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AGCAGAATGGAGGTGCTTAAT	0.383																																																2	Substitution - Missense(2)	kidney(2)											200	188	192					4																	87023072		2203	4300	6503	SO:0001583	missense	5602			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.539T>C	4.37:g.87023072A>G	ENSP00000352157:p.Leu180Pro		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739048	0.89573	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	H	0.96943	3.91	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.921;1.0;1.0;1.0;1.0	D	0.97864	1.0282	10	0.87932	D	0	-14.6937	16.4127	0.83723	1.0:0.0:0.0:0.0	.	66;35;142;180;180	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.;.;.;.;MK10_HUMAN	P	142;180;35;180;142;35;35;180	ENSP00000378598:L142P;ENSP00000352157:L180P;ENSP00000378586:L35P;ENSP00000355297:L180P;ENSP00000378595:L142P;ENSP00000378589:L35P;ENSP00000414469:L35P;ENSP00000378590:L180P	ENSP00000352157:L180P	L	-	2	0	MAPK10	87242096	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.231000	0.95317	2.279000	0.76181	0.528000	0.53228	CTC		0.383	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			G	87023072	A	G	87023072	3	3	229	1	0	0	0	0	1	0	0	0	9274	304	11	3	892	3	MAPK10	4	87023072	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	3184374	87023072	104131204	24	13886											
TLL1	7092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	166986847	166986847	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr4:166986847G>C	ENST00000061240.2	+	16	2667	c.2020G>C	c.(2020-2022)Gat>Cat	p.D674H	TLL1_ENST00000507499.1_Missense_Mutation_p.D697H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	674	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D674H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTGCAAATATGATTATGTGGA	0.373																																																1	Substitution - Missense(1)	kidney(1)											113	113	113					4																	166986847		2203	4299	6502	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2020G>C	4.37:g.166986847G>C	ENSP00000061240:p.Asp674His		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715821	0.89112	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.35236	1.32;1.32	5.97	5.97	0.96955	CUB (5);	0.000000	0.85682	U	0.000000	T	0.79540	0.4463	H	0.99573	4.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87909	0.2696	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	697;674	E9PD25;O43897	.;TLL1_HUMAN	H	674;697	ENSP00000061240:D674H;ENSP00000426082:D697H	ENSP00000061240:D674H	D	+	1	0	TLL1	167206297	1.000000	0.71417	0.981000	0.43875	0.813000	0.45954	9.813000	0.99286	2.836000	0.97738	0.655000	0.94253	GAT		0.373	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			C	166986847	G	C	166986847	3	2	229	1	0	0	0	0	1	0	0	0	15950	1290	45	4	2082	4	TLL1	4	166986847	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	79963775	166986847	24167429	25	13887											
FAT1	2195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	187549319	187549319	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr4:187549319G>C	ENST00000441802.2	-	9	5008	c.4799C>G	c.(4798-4800)tCg>tGg	p.S1600W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1600	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1600W(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGACTCGATCGAGTACAGCAC	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											2	Substitution - Missense(2)	kidney(2)											38	40	39					4																	187549319		2028	4192	6220	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4799C>G	4.37:g.187549319G>C	ENSP00000406229:p.Ser1600Trp			Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574685	0.65878	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03212	4.01	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	0.102483	0.64402	D	0.000002	T	0.31606	0.0802	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44528	-0.9322	10	0.62326	D	0.03	.	19.5755	0.95441	0.0:0.0:1.0:0.0	.	1600	Q14517	FAT1_HUMAN	W	1600;1599	ENSP00000406229:S1600W	ENSP00000260147:S1599W	S	-	2	0	FAT1	187786313	1.000000	0.71417	0.855000	0.33649	0.676000	0.39594	5.902000	0.69869	2.865000	0.98341	0.655000	0.94253	TCG		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		C	187549319	G	C	187549319	3	2	229	1	0	0	0	0	1	0	0	0	5691	1059	37	4	9043	4	FAT1	4	187549319	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	20562472	187549319	3604957	26	13888											
SLCO4C1	353189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	101597654	101597654	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:101597654A>G	ENST00000310954.6	-	5	1269	c.983T>C	c.(982-984)tTa>tCa	p.L328S		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.L328S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGGTATTATTAAAGACCAAGC	0.373																																																1	Substitution - Missense(1)	kidney(1)											95	96	96					5																	101597654		2203	4300	6503	SO:0001583	missense	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.983T>C	5.37:g.101597654A>G	ENSP00000309741:p.Leu328Ser			Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328443	0.81690	.	.	ENSG00000173930	ENST00000310954	D	0.82344	-1.6	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000048	T	0.78123	0.4234	L	0.31752	0.955	0.35235	D	0.777314	B	0.25719	0.132	B	0.33254	0.16	T	0.79369	-0.1832	10	0.34782	T	0.22	.	16.1654	0.81750	1.0:0.0:0.0:0.0	.	328	Q6ZQN7	SO4C1_HUMAN	S	328	ENSP00000309741:L328S	ENSP00000309741:L328S	L	-	2	0	SLCO4C1	101625553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.508000	0.73721	2.214000	0.71695	0.477000	0.44152	TTA		0.373	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		G	101597654	A	G	101597654	3	3	229	1	0	0	0	0	1	0	0	0	14736	372	13	3	1227	3	SLCO4C1	5	101597654	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08		101597654	79317606	27	13889											
TCOF1	6949	hgsc.bcm.edu;ucsc.edu	37	5	149771631	149771632	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:149771631_149771632insC	ENST00000504761.2	+	21	3409_3410	c.3409_3410insC	c.(3409-3411)accfs	p.T1137fs	TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.T1060fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.T1060fs|TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.T1174fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.T1137fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.T1136fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.T1099fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1137					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)			CCAGCAGGCCACCAAAGCCCCT	0.589																																																0																																										SO:0001589	frameshift_variant	6949				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.3411dupC	5.37:g.149771633_149771633dupC	ENSP00000421655:p.Thr1137fs		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	CCDS54936.1																																																																																				0.589	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		C	149771632	-	C	149771631	7	5	229	1	0	1	1	0	0	0	0	0	15713	159	6	0	3513	0	TCOF1	5	149771631	Frame_Shift_Ins	INS	-	TCGA-B0-5713-01A-11D-1669-08	48173977	149771631	31143629	28	13890											
RNF145	153830	hgsc.bcm.edu;ucsc.edu	37	5	158601127	158601128	+	Frame_Shift_Ins	INS	-	-	GGACATT			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:158601127_158601128insGGACATT	ENST00000424310.2	-	6	1019_1020	c.660_661insAATGTCC	c.(658-663)tccctgfs	p.L221fs	RNF145_ENST00000274542.2_Frame_Shift_Ins_p.L249fs|RNF145_ENST00000521606.2_Frame_Shift_Ins_p.L238fs|RNF145_ENST00000518802.1_Frame_Shift_Ins_p.L251fs|RNF145_ENST00000519865.1_Frame_Shift_Ins_p.L221fs|RNF145_ENST00000520638.1_Frame_Shift_Ins_p.L235fs	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	221						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATTCCACAGGGACATTCCCA	0.411																																																0																																										SO:0001589	frameshift_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.654_660dupAATGTCC	5.37:g.158601128_158601134dupGGACATT	ENSP00000409064:p.Leu221fs		B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Ins	INS	ENST00000424310.2	37	CCDS56390.1																																																																																				0.411	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		GGACATT	158601128	-	GGACATT	158601127	7	5	229	1	0	1	1	0	0	0	0	0	13453	991	35	0	1354	0	RNF145	5	158601127	Frame_Shift_Ins	INS	-	TCGA-B0-5713-01A-11D-1669-08	8829496	158601127	22314133	29	13891											
RANBP17	64901	broad.mit.edu;hgsc.bcm.edu	37	5	170336745	170336745	+	Silent	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:170336745G>T	ENST00000523189.1	+	6	734	c.570G>T	c.(568-570)gtG>gtT	p.V190V		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	190					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.V190V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACGTTTTAGTGCTAGCATGCT	0.308			T	TRD@	ALL																																		Dom	yes		5	5q34	64901	RAN binding protein 17		L	1	Substitution - coding silent(1)	kidney(1)											75	72	73					5																	170336745		2202	4293	6495	SO:0001819	synonymous_variant	64901			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.570G>T	5.37:g.170336745G>T			Q8IU74	Silent	SNP	ENST00000523189.1	37	CCDS34287.1																																																																																				0.308	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		T	170336745	G	T	170336745	2	4	229	1	0	0	0	0	0	0	0	1	13033	1306	46	4		4	RANBP17	5	170336745	Silent	SNP	G	TCGA-B0-5713-01A-11D-1669-08	11735618	170336745	10578515	30	13892											
RAB24	53917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176728925	176728925	+	Splice_Site	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:176728925C>T	ENST00000303251.6	-	7	967		c.e7+1		RAB24_ENST00000303270.6_Splice_Site|PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000393611.2_Splice_Site	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family						autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.?(1)				all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGCACACACCTGTCATCAC	0.537																																																1	Unknown(1)	kidney(1)											122	121	121					5																	176728925		2203	4300	6503	SO:0001630	splice_region_variant	53917			AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"RAB, member RAS oncogene"	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.547+1G>A	5.37:g.176728925C>T			Q7Z4Z7	Splice_Site	SNP	ENST00000303251.6	37	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743514	0.69418	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7856	0.88536	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAB24	176661531	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.920000	0.75799	2.432000	0.82394	0.561000	0.74099	.		0.537	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781	Intron	T	176728925	C	T	176728925	5	4	229	1	0	0	0	0	0	0	1	0	12917	521	18	2	71	2	RAB24	5	176728925	Splice_Site	SNP	C	TCGA-B0-5713-01A-11D-1669-08	6392180	176728925	4186335	31	13893											
HNRNPH1	3187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179050064	179050064	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:179050064G>A	ENST00000356731.5	-	1	1606	c.71C>T	c.(70-72)gCc>gTc	p.A24V	HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.A24V|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.A24V|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.A24V|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.A24V			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	24	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.A24V(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CACTTCATCGGCCGAGCAAGA	0.637																																																3	Substitution - Missense(3)	kidney(3)											83	72	76					5																	179050064		2203	4300	6503	SO:0001583	missense	3187			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.71C>T	5.37:g.179050064G>A	ENSP00000349168:p.Ala24Val		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	6.515	0.463169	0.12402	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000523137;ENST00000505811;ENST00000510431;ENST00000519056;ENST00000504348;ENST00000513225;ENST00000515158;ENST00000521116;ENST00000515714;ENST00000503664;ENST00000522256	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;3.36;1.56;1.56;1.56;1.56;1.56	3.58	3.58	0.41010	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.261210	0.37906	N	0.001892	T	0.16257	0.0391	N	0.12443	0.215	0.58432	D	0.999995	B	0.09022	0.002	B	0.16722	0.016	T	0.07009	-1.0795	10	0.20519	T	0.43	-2.2153	10.5509	0.45087	0.0:0.0:0.8062:0.1938	.	24	P31943	HNRH1_HUMAN	V	24	ENSP00000377082:A24V;ENSP00000397797:A24V;ENSP00000349168:A24V;ENSP00000327539:A24V;ENSP00000426275:A24V;ENSP00000427408:A24V;ENSP00000425732:A24V;ENSP00000420850:A24V;ENSP00000427986:A24V;ENSP00000424087:A24V;ENSP00000423140:A24V;ENSP00000430970:A24V;ENSP00000427388:A24V;ENSP00000426518:A24V;ENSP00000421695:A24V;ENSP00000429661:A24V;ENSP00000425343:A24V;ENSP00000426726:A24V	ENSP00000327539:A24V	A	-	2	0	HNRNPH1	178982670	0.775000	0.28604	0.783000	0.31826	0.887000	0.51463	2.903000	0.48711	1.699000	0.51192	0.491000	0.48974	GCC		0.637	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		A	179050064	G	A	179050064	3	1	229	1	0	0	0	0	1	0	0	0	7268	1203	42	2	1326	2	HNRNPH1	5	179050064	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	2321139	179050064	1865196	32	13894											
CUL7	9820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43017376	43017376	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:43017376C>T	ENST00000265348.3	-	7	1679	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	CUL7_ENST00000535468.1_Missense_Mutation_p.E616K|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	532					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E532K(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACGGCCAGTTCAGCTAGGATC	0.577																																																1	Substitution - Missense(1)	kidney(1)											86	81	83					6																	43017376		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1594G>A	6.37:g.43017376C>T	ENSP00000265348:p.Glu532Lys		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939456	0.73557	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.64803	-0.12;-0.12	5.6	5.6	0.85130	.	0.485127	0.23554	N	0.046938	T	0.62816	0.2459	M	0.68317	2.08	0.80722	D	1	P;D	0.65815	0.607;0.995	B;P	0.56278	0.187;0.795	T	0.69647	-0.5089	10	0.87932	D	0	-22.057	8.4214	0.32703	0.0:0.7488:0.1687:0.0825	.	616;532	F5H0L1;Q14999	.;CUL7_HUMAN	K	532;616	ENSP00000265348:E532K;ENSP00000438788:E616K	ENSP00000265348:E532K	E	-	1	0	CUL7	43125354	0.992000	0.36948	0.991000	0.47740	0.623000	0.37688	2.565000	0.45939	2.640000	0.89533	0.655000	0.94253	GAA		0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		T	43017376	C	T	43017376	3	4	229	1	0	0	0	0	1	0	0	0	4062	835	29	2	3582	2	CUL7	6	43017376	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08		43017376	128097691	33	13895											
CRIP3	401262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43276136	43276136	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:43276136T>C	ENST00000274990.4	-	2	59	c.55A>G	c.(55-57)Agc>Ggc	p.S19G	CRIP3_ENST00000372569.3_Missense_Mutation_p.S19G|ZNF318_ENST00000607252.1_5'UTR			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	19	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.S19G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCCAGGGAGCTCACCTTCTCA	0.612																																																1	Substitution - Missense(1)	kidney(1)											51	47	48					6																	43276136		2203	4300	6503	SO:0001583	missense	401262			AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.55A>G	6.37:g.43276136T>C	ENSP00000274990:p.Ser19Gly		A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Missense_Mutation	SNP	ENST00000274990.4	37		.	.	.	.	.	.	.	.	.	.	T	20.6	4.016060	0.75161	.	.	ENSG00000146215	ENST00000372569;ENST00000274990	D;D	0.87729	-2.29;-2.29	5.03	5.03	0.67393	Zinc finger, LIM-type (5);	0.055333	0.64402	D	0.000002	D	0.91338	0.7268	M	0.76838	2.35	0.48901	D	0.999725	D;D	0.61697	0.989;0.99	P;D	0.72982	0.829;0.979	D	0.92381	0.5913	10	0.66056	D	0.02	-5.2528	12.7507	0.57306	0.0:0.0:0.0:1.0	.	19;19	Q6Q6R5;Q6Q6R5-3	CRIP3_HUMAN;.	G	19	ENSP00000361650:S19G;ENSP00000274990:S19G	ENSP00000274990:S19G	S	-	1	0	CRIP3	43384114	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.349000	0.59385	2.105000	0.64084	0.459000	0.35465	AGC		0.612	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1			C	43276136	T	C	43276136	3	2	229	1	0	0	0	0	1	0	0	0	3878	1551	54	3	587	3	CRIP3	6	43276136	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08	258760	43276136	127838931	34	13896											
PAQR8	85315	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	52268836	52268836	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:52268836T>A	ENST00000442253.2	+	2	999	c.825T>A	c.(823-825)tgT>tgA	p.C275*	PAQR8_ENST00000360726.3_Nonsense_Mutation_p.C275*	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	275					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.C275*(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CGGGTTCCTGTGACATCGTGG	0.577																																																1	Substitution - Nonsense(1)	kidney(1)											118	107	111					6																	52268836		2203	4300	6503	SO:0001587	stop_gained	85315			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.825T>A	6.37:g.52268836T>A	ENSP00000406197:p.Cys275*		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Nonsense_Mutation	SNP	ENST00000442253.2	37	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.023116	0.93462	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	.	.	.	5.64	3.32	0.38043	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.8031	9.7946	0.40726	0.0:0.1253:0.0:0.8747	.	.	.	.	X	275	.	.	C	+	3	2	PAQR8	52376795	0.969000	0.33509	1.000000	0.80357	0.969000	0.65631	0.088000	0.14979	2.147000	0.66899	0.533000	0.62120	TGT		0.577	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		A	52268836	T	A	52268836	4	1	229	1	0	0	0	0	0	1	0	0	11443	1702	59	5	827	5	PAQR8	6	52268836	Nonsense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08	8992700	52268836	118846231	35	13897											
FAM83B	222584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	54735119	54735119	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:54735119G>C	ENST00000306858.7	+	2	191	c.75G>C	c.(73-75)aaG>aaC	p.K25N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	25								p.K25N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCACTACAAGGAATGGTATC	0.423																																																1	Substitution - Missense(1)	kidney(1)											142	128	133					6																	54735119		2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.75G>C	6.37:g.54735119G>C	ENSP00000304078:p.Lys25Asn		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975494	0.53720	.	.	ENSG00000168143	ENST00000306858	T	0.11063	2.81	5.08	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	N	0.26092	0.79	0.49051	D	0.99974	D	0.89917	1.0	D	0.83275	0.996	T	0.07966	-1.0745	10	0.46703	T	0.11	-29.8232	9.8932	0.41302	0.1563:0.0:0.8437:0.0	.	25	Q5T0W9	FA83B_HUMAN	N	25	ENSP00000304078:K25N	ENSP00000304078:K25N	K	+	3	2	FAM83B	54843078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.459000	0.35234	1.273000	0.44346	0.467000	0.42956	AAG		0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		C	54735119	G	C	54735119	3	2	229	1	0	0	0	0	1	0	0	0	5636	991	35	4	77	4	FAM83B	6	54735119	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	2466283	54735119	116379948	36	13898											
UBE2J1	51465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90039627	90039627	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:90039627G>T	ENST00000435041.2	-	8	1006	c.728C>A	c.(727-729)cCt>cAt	p.P243H		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	243					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.P243H(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CTTAGCTACAGGTTGGGTAGG	0.473																																																1	Substitution - Missense(1)	kidney(1)											114	114	114					6																	90039627		2203	4300	6503	SO:0001583	missense	51465			AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"Ubiquitin-conjugating enzymes E2"	17598	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.728C>A	6.37:g.90039627G>T	ENSP00000451261:p.Pro243His		A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	37	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568352	0.45798	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.66460	-0.21	5.87	5.87	0.94306	.	0.544877	0.21343	N	0.076099	T	0.52964	0.1767	L	0.36672	1.1	0.28843	N	0.896506	P	0.51653	0.947	B	0.43916	0.436	T	0.56902	-0.7902	10	0.52906	T	0.07	-12.4154	20.5827	0.99408	0.0:0.0:1.0:0.0	.	243	Q9Y385	UB2J1_HUMAN	H	243;228	ENSP00000451261:P243H	ENSP00000354684:P243H	P	-	2	0	UBE2J1	90096346	0.987000	0.35691	0.520000	0.27837	0.682000	0.39822	5.403000	0.66338	2.941000	0.99782	0.655000	0.94253	CCT		0.473	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021		T	90039627	G	T	90039627	3	4	229	1	0	0	0	0	1	0	0	0	16865	1000	35	4	232	4	UBE2J1	6	90039627	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	35304508	90039627	81075440	37	13899											
MARCKS	4082	broad.mit.edu;hgsc.bcm.edu	37	6	114178975	114178975	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:114178975G>C	ENST00000368635.4	+	1	435	c.54G>C	c.(52-54)agG>agC	p.R18S		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	18					energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)	p.R18S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CCGCGGAGAGGCCTGGGGAGG	0.552																																																1	Substitution - Missense(1)	kidney(1)											17	18	18					6																	114178975		2201	4297	6498	SO:0001583	missense	4082			M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.54G>C	6.37:g.114178975G>C	ENSP00000357624:p.Arg18Ser		E1P560|Q2LA83|Q5TDB7	Missense_Mutation	SNP	ENST00000368635.4	37	CCDS5101.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342609	0.41498	.	.	ENSG00000155130	ENST00000368635	T	0.36340	1.26	4.94	4.07	0.47477	.	0.125018	0.52532	D	0.000072	T	0.20659	0.0497	L	0.34521	1.04	0.32839	D	0.505167	P	0.34462	0.454	B	0.40940	0.344	T	0.10894	-1.0610	10	0.54805	T	0.06	.	12.9036	0.58139	0.1304:0.0:0.8696:0.0	.	18	P29966	MARCS_HUMAN	S	18	ENSP00000357624:R18S	ENSP00000357624:R18S	R	+	3	2	MARCKS	114285668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.520000	0.35899	2.746000	0.94184	0.561000	0.74099	AGG		0.552	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		C	114178975	G	C	114178975	3	2	229	1	0	0	0	0	1	0	0	0	9311	1194	42	4	56	4	MARCKS	6	114178975	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	24139348	114178975	56936092	38	13900											
CHST12	55501	hgsc.bcm.edu;ucsc.edu	37	7	2473500	2473500	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr7:2473500delA	ENST00000258711.6	+	2	1361	c.1226delA	c.(1225-1227)gaafs	p.E409fs		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	409					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCCAAGCCCGAAAACCTCCTC	0.547																																																0													55	61	59					7																	2473500		2203	4300	6503	SO:0001589	frameshift_variant	55501			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.1226delA	7.37:g.2473500delA	ENSP00000258711:p.Glu409fs		A4D1Z9|Q502W3|Q9NXY7	Frame_Shift_Del	DEL	ENST00000258711.6	37	CCDS5333.1																																																																																				0.547	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		-	2473500	A	-	2473500	7	5	229	1	0	1	0	1	0	0	0	0	3402	246	9	0	1228	0	CHST12	7	2473500	Frame_Shift_Del	DEL	A	TCGA-B0-5713-01A-11D-1669-08		2473500	156665163	39	13901											
EGFR	1956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	55249116	55249116	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr7:55249116A>G	ENST00000275493.2	+	20	2591	c.2414A>G	c.(2413-2415)cAc>cGc	p.H805R	EGFR_ENST00000454757.2_Missense_Mutation_p.H752R|EGFR_ENST00000442591.1_Intron|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.H760R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.H805R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTCCGGGAACACAAAGACAAT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	1	Substitution - Missense(1)	kidney(1)											93	81	85					7																	55249116		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2414A>G	7.37:g.55249116A>G	ENSP00000275493:p.His805Arg		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320565	0.60634	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82081	-1.57;-1.57;-1.57	5.92	4.75	0.60458	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.087681	0.85682	D	0.000000	T	0.77205	0.4096	L	0.33293	1	0.42793	D	0.993904	B;P	0.49090	0.305;0.919	B;B	0.44044	0.032;0.439	T	0.78011	-0.2371	10	0.56958	D	0.05	.	12.3069	0.54908	0.8582:0.1418:0.0:0.0	.	760;805	Q504U8;P00533	.;EGFR_HUMAN	R	760;675;805;752	ENSP00000415559:H760R;ENSP00000275493:H805R;ENSP00000395243:H752R	ENSP00000275493:H805R	H	+	2	0	EGFR	55216610	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.303000	0.96183	1.041000	0.40125	0.533000	0.62120	CAC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55249116	A	G	55249116	3	3	229	1	0	0	0	0	1	0	0	0	4969	159	6	3	2756	3	EGFR	7	55249116	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	52775616	55249116	103889547	40	13902											
ACN9	57001	hgsc.bcm.edu;ucsc.edu	37	7	96747041	96747046	+	In_Frame_Del	DEL	GGGGCG	GGGGCG	-	rs199949264|rs566561181|rs569982446		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	GGGGCG	GGGGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr7:96747041_96747046delGGGGCG	ENST00000360382.4	+	1	7_12	c.6_11delGGGGCG	c.(4-12)ccggggcgg>ccg	p.GR3del	ACN9_ENST00000432641.2_In_Frame_Del_p.GR3del					ACN9 homolog (S. cerevisiae)									p.R4Q(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					GCGCTATGCCGGGGCGGCACGTTTCT	0.646																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	57001			BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000360382.4:c.6_11delGGGGCG	7.37:g.96747041_96747046delGGGGCG	ENSP00000353548:p.Gly3_Arg4del			In_Frame_Del	DEL	ENST00000360382.4	37																																																																																					0.646	ACN9-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333686.3	NM_020186		-	96747046	GGGGCG	-	96747041	7	5	229	1	0	1	0	1	0	0	0	0	145	1103	39	0	8	0	ACN9	7	96747041	In_Frame_Del	DEL	GGGGCG	TCGA-B0-5713-01A-11D-1669-08	41497925	96747041	62391622	41	13903											
ZNF786	136051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148769510	148769510	+	Silent	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr7:148769510A>T	ENST00000491431.1	-	4	418	c.354T>A	c.(352-354)ccT>ccA	p.P118P	ZNF786_ENST00000316286.9_Silent_p.P32P|ZNF786_ENST00000451334.3_Silent_p.P81P	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P117P(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTGGCTTTCAGGATCTAATT	0.493																																																1	Substitution - coding silent(1)	kidney(1)											54	50	51					7																	148769510		1920	4123	6043	SO:0001819	synonymous_variant	136051			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.354T>A	7.37:g.148769510A>T			A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	CCDS47738.1																																																																																				0.493	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		T	148769510	A	T	148769510	2	4	229	1	0	0	0	0	0	0	0	1	18163	175	7	5		5	ZNF786	7	148769510	Silent	SNP	A	TCGA-B0-5713-01A-11D-1669-08	52022469	148769510	10369153	42	13904											
TNKS	8658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	9588524	9588524	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:9588524A>C	ENST00000310430.6	+	14	2152	c.2126A>C	c.(2125-2127)gAt>gCt	p.D709A	TNKS_ENST00000518281.1_Missense_Mutation_p.D472A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	709					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.D709A(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CACGGTGCCGATGTCCATGCC	0.448																																																2	Substitution - Missense(2)	kidney(2)											95	80	85					8																	9588524		2203	4300	6503	SO:0001583	missense	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2126A>C	8.37:g.9588524A>C	ENSP00000311579:p.Asp709Ala		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	35	5.427349	0.96131	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.70631	-0.5;-0.5	5.76	5.76	0.90799	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.87827	2.91	0.80722	D	1	P	0.52692	0.955	P	0.53988	0.739	D	0.85493	0.1186	10	0.56958	D	0.05	.	16.0796	0.80995	1.0:0.0:0.0:0.0	.	709	O95271	TNKS1_HUMAN	A	709;472	ENSP00000311579:D709A;ENSP00000429890:D472A	ENSP00000311579:D709A	D	+	2	0	TNKS	9625934	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.339000	0.96797	2.206000	0.71126	0.533000	0.62120	GAT		0.448	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		C	9588524	A	C	9588524	3	2	229	1	0	0	0	0	1	0	0	0	16324	333	12	5	2180	5	TNKS	8	9588524	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08		9588524	136775498	43	13905											
PXDNL	137902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	52370154	52370154	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:52370154T>C	ENST00000356297.4	-	9	986	c.886A>G	c.(886-888)Aga>Gga	p.R296G	PXDNL_ENST00000543296.1_Missense_Mutation_p.R296G	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	296	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R296G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTGACTCTCTGGTGTTTCGG	0.448																																																1	Substitution - Missense(1)	kidney(1)											170	169	170					8																	52370154		1975	4163	6138	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.886A>G	8.37:g.52370154T>C	ENSP00000348645:p.Arg296Gly		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	9.103	1.004551	0.19199	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.67345	-0.26;-0.26	3.71	1.2	0.21068	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55940	0.1952	L	0.44542	1.39	0.21064	N	0.999791	B	0.33345	0.409	B	0.35770	0.21	T	0.41592	-0.9500	9	0.31617	T	0.26	.	8.0584	0.30619	0.0:0.0:0.4678:0.5322	.	296	A1KZ92	PXDNL_HUMAN	G	296	ENSP00000348645:R296G;ENSP00000444865:R296G	ENSP00000348645:R296G	R	-	1	2	PXDNL	52532707	0.007000	0.16637	0.012000	0.15200	0.722000	0.41435	0.174000	0.16743	0.025000	0.15241	0.454000	0.30748	AGA		0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		C	52370154	T	C	52370154	3	2	229	1	0	0	0	0	1	0	0	0	12854	1588	55	3	3565	3	PXDNL	8	52370154	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08	42781630	52370154	93993868	44	13906											
NSMAF	8439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	59506790	59506790	+	Splice_Site	SNP	C	C	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:59506790C>G	ENST00000038176.3	-	23	2164		c.e23+1		NSMAF_ENST00000427130.2_Splice_Site	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.?(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GGAACACTGACCTTGGGATGT	0.438																																																2	Unknown(2)	kidney(2)											120	114	116					8																	59506790		2203	4300	6503	SO:0001630	splice_region_variant	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1951+1G>C	8.37:g.59506790C>G			B4DFB0|E9PCH0|Q8IW26	Splice_Site	SNP	ENST00000038176.3	37	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082894	0.36758	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1072	0.93301	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMAF	59669344	1.000000	0.71417	0.998000	0.56505	0.134000	0.20937	6.663000	0.74431	2.763000	0.94921	0.555000	0.69702	.		0.438	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	Intron	G	59506790	C	G	59506790	5	3	229	1	0	0	0	0	0	0	1	0	10676	521	18	4	837	4	NSMAF	8	59506790	Splice_Site	SNP	C	TCGA-B0-5713-01A-11D-1669-08	7136636	59506790	86857232	45	13907											
COPS5	10987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67970384	67970384	+	Silent	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:67970384A>G	ENST00000357849.4	-	3	761	c.441T>C	c.(439-441)ctT>ctC	p.L147L	COPS5_ENST00000519963.1_5'Flank|PPP1R42_ENST00000517834.1_5'Flank|AC109335.1_ENST00000578628.1_RNA|COPS5_ENST00000517736.1_Silent_p.L83L	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	147	MPN.				cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)	p.L147L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAATCCCAGAAAGCCAGCAGC	0.418																																																1	Substitution - coding silent(1)	kidney(1)											60	59	59					8																	67970384		2203	4300	6503	SO:0001819	synonymous_variant	10987			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5", "COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.441T>C	8.37:g.67970384A>G			O15386|Q6AW95|Q86WQ4|Q9BQ17	Silent	SNP	ENST00000357849.4	37	CCDS6198.1																																																																																				0.418	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			G	67970384	A	G	67970384	2	3	229	1	0	0	0	0	0	0	0	1	3738	1	1	3		3	COPS5	8	67970384	Silent	SNP	A	TCGA-B0-5713-01A-11D-1669-08	8463594	67970384	78393638	46	13908											
LRRCC1	85444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	86022019	86022019	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:86022019G>T	ENST00000360375.3	+	2	443	c.294G>T	c.(292-294)ttG>ttT	p.L98F	LRRCC1_ENST00000414626.2_Missense_Mutation_p.L78F	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	98					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L98F(1)|p.L78F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CCTGCAATTTGATTACAAAAG	0.303																																																2	Substitution - Missense(2)	kidney(2)											51	46	47					8																	86022019		1826	4076	5902	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.294G>T	8.37:g.86022019G>T	ENSP00000353538:p.Leu98Phe		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	8.166	0.790614	0.16258	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.09817	2.94;2.94	5.52	2.62	0.31277	.	0.000000	0.30676	N	0.009104	T	0.08133	0.0203	L	0.45228	1.405	0.41441	D	0.987926	B;B	0.33448	0.412;0.23	B;B	0.35353	0.148;0.201	T	0.16188	-1.0411	10	0.09843	T	0.71	-1.2889	7.0882	0.25270	0.2602:0.1224:0.6174:0.0	.	78;98	Q9C099-2;Q9C099	.;LRCC1_HUMAN	F	98;78	ENSP00000353538:L98F;ENSP00000394695:L78F	ENSP00000353538:L98F	L	+	3	2	LRRCC1	86209271	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	1.198000	0.32223	1.328000	0.45358	0.591000	0.81541	TTG		0.303	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		T	86022019	G	T	86022019	3	4	229	1	0	0	0	0	1	0	0	0	9028	1281	45	4	300	4	LRRCC1	8	86022019	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	18051635	86022019	60342003	47	13909											
LRP12	29967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	105503616	105503616	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:105503616G>A	ENST00000276654.5	-	7	1973	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L	LRP12_ENST00000424843.2_Missense_Mutation_p.S603L|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	622					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.S622L(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCCATCTGCTGAGACCAAAGC	0.438																																																1	Substitution - Missense(1)	kidney(1)											74	72	73					8																	105503616		2203	4300	6503	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1865C>T	8.37:g.105503616G>A	ENSP00000276654:p.Ser622Leu		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	36	5.620357	0.96660	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.84516	-1.86;-1.79	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.88596	0.6479	L	0.27053	0.805	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.75020	0.985;0.977	D	0.88012	0.2763	10	0.48119	T	0.1	-21.3852	20.5373	0.99239	0.0:0.0:1.0:0.0	.	603;622	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	L	603;622	ENSP00000399148:S603L;ENSP00000276654:S622L	ENSP00000276654:S622L	S	-	2	0	LRP12	105572792	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.145000	0.94634	2.857000	0.98124	0.650000	0.86243	TCA		0.438	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		A	105503616	G	A	105503616	3	1	229	1	0	0	0	0	1	0	0	0	8956	1294	45	2	718	2	LRP12	8	105503616	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	19481597	105503616	40860406	48	13910											
NOL6	65083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	33470170	33470170	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr9:33470170A>G	ENST00000379471.2	-	4	485	c.398T>C	c.(397-399)cTc>cCc	p.L133P	NOL6_ENST00000455041.2_Intron|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	133					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L133P(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCCAGCTGGGAGCCATGCCTG	0.562																																																1	Substitution - Missense(1)	kidney(1)											33	31	32					9																	33470170		2203	4299	6502	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.398T>C	9.37:g.33470170A>G	ENSP00000368784:p.Leu133Pro		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	A	20.3	3.974266	0.74246	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914	T;T;T	0.48836	0.8;1.4;1.39	5.15	5.15	0.70609	.	0.128077	0.52532	D	0.000068	T	0.67887	0.2941	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.996;0.992	T	0.67496	-0.5656	10	0.30078	T	0.28	.	14.64	0.68717	1.0:0.0:0.0:0.0	.	133;133;133;133	Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;NOL6_HUMAN	P	133	ENSP00000313978:L133P;ENSP00000297990:L133P;ENSP00000368784:L133P	ENSP00000297990:L133P	L	-	2	0	NOL6	33460170	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.435000	0.90297	1.945000	0.56424	0.379000	0.24179	CTC		0.562	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		G	33470170	A	G	33470170	3	3	229	1	0	0	0	0	1	0	0	0	10527	304	11	3	3134	3	NOL6	9	33470170	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08		33470170	107743261	49	13911											
TPM2	7169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35684288	35684288	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr9:35684288C>T	ENST00000360958.2	-	8	831	c.727G>A	c.(727-729)Gag>Aag	p.E243K	TPM2_ENST00000329305.2_Missense_Mutation_p.E243K|TPM2_ENST00000378300.5_Missense_Mutation_p.E243K|TPM2_ENST00000378292.3_Missense_Mutation_p.E243K	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	243					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.E243K(2)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACAGACCTCTCGGCAAACTCT	0.498																																																2	Substitution - Missense(2)	kidney(2)											74	67	69					9																	35684288		2203	4300	6503	SO:0001583	missense	7169				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"Tropomyosins"	12011	protein-coding gene	gene with protein product	"nemaline myopathy type 4"	190990	"arthrogryposis multiplex congenital, distal, type 1"	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.727G>A	9.37:g.35684288C>T	ENSP00000354219:p.Glu243Lys		A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173758	0.94807	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.99571	-6.19;-6.19;-6.19;-6.19	5.0	4.11	0.48088	.	.	.	.	.	D	0.99768	0.9905	H	0.98111	4.15	0.50467	D	0.999877	D;D;D;D	0.89917	0.998;0.973;1.0;1.0	D;P;D;D	0.91635	0.98;0.683;0.999;0.983	D	0.97172	0.9845	9	0.87932	D	0	-5.6404	12.8298	0.57740	0.0:0.921:0.0:0.079	.	243;243;243;243	A7XZE4;P07951;Q5TCU8;P07951-2	.;TPM2_HUMAN;.;.	K	243	ENSP00000367550:E243K;ENSP00000367542:E243K;ENSP00000367541:E243K;ENSP00000354219:E243K	ENSP00000367541:E243K	E	-	1	0	TPM2	35674288	1.000000	0.71417	0.872000	0.34217	0.976000	0.68499	7.606000	0.82863	1.321000	0.45227	0.563000	0.77884	GAG		0.498	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		T	35684288	C	T	35684288	3	4	229	1	0	0	0	0	1	0	0	0	16411	893	31	1	222	1	TPM2	9	35684288	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	2214118	35684288	105529143	50	13912											
LOC645961	645961	broad.mit.edu	37	9	90746972	90746972	+	IGR	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr9:90746972G>T								U6 (133722 upstream) : U3 (242211 downstream)																							CTCCAGATGGGACAGGGGCTG	0.552																																																0													127	113	117					9																	90746972		692	1590	2282	SO:0001628	intergenic_variant	0																															9.37:g.90746972G>T				Missense_Mutation	SNP		37																																																																																				0	0.552									T	90746972	G	T	90746972	1	4	229	0	1	0	0	0	0	0	0	0	8885	1174	41	4		4	LOC645961	9	90746972	IGR	SNP	G	TCGA-B0-5713-01A-11D-1669-08	55062684	90746972	50466459	51	13913											
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113170849	113170849	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr9:113170849A>T	ENST00000401783.2	-	38	7367	c.7031T>A	c.(7030-7032)gTt>gAt	p.V2344D	SVEP1_ENST00000297826.5_Missense_Mutation_p.V270D|SVEP1_ENST00000374469.1_Missense_Mutation_p.V2321D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2344	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.V2347D(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAATGTCACAACTCCTACCTC	0.488																																																1	Substitution - Missense(1)	kidney(1)											56	55	55					9																	113170849		1901	4132	6033	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7031T>A	9.37:g.113170849A>T	ENSP00000384917:p.Val2344Asp		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	9.169	1.020780	0.19433	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.66995	-0.24;-0.24;-0.24	5.62	4.47	0.54385	Complement control module (2);Sushi/SCR/CCP (3);	0.388539	0.29021	N	0.013395	T	0.76786	0.4036	M	0.88570	2.965	0.28791	N	0.89933	P	0.50819	0.939	P	0.52386	0.697	T	0.71951	-0.4437	10	0.20519	T	0.43	.	11.5904	0.50943	0.9301:0.0:0.0699:0.0	.	2344	Q4LDE5	SVEP1_HUMAN	D	2344;2321;270;16	ENSP00000384917:V2344D;ENSP00000363593:V2321D;ENSP00000297826:V270D	ENSP00000297826:V270D	V	-	2	0	SVEP1	112210670	0.989000	0.36119	0.349000	0.25694	0.013000	0.08279	4.945000	0.63568	0.955000	0.37878	0.533000	0.62120	GTT		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	113170849	A	T	113170849	3	4	229	1	0	0	0	0	1	0	0	0	15425	43	2	5	3728	5	SVEP1	9	113170849	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	22423877	113170849	28042582	52	13914											
CCDC109A	90550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	74619047	74619047	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr10:74619047T>G	ENST00000373053.3	+	3	354	c.333T>G	c.(331-333)ttT>ttG	p.F111L	MCU_ENST00000536019.1_Missense_Mutation_p.F62L|MCU_ENST00000357157.6_Missense_Mutation_p.F111L	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	111					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)	p.F111L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TTGGTGTATTTTTACGACAAC	0.423																																																1	Substitution - Missense(1)	kidney(1)											180	169	173					10																	74619047		2203	4300	6503	SO:0001583	missense	0			BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"coiled-coil domain containing 109A"	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.333T>G	10.37:g.74619047T>G	ENSP00000362144:p.Phe111Leu		B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668608	0.47677	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	T;T;T	0.33216	1.42;1.42;1.42	5.65	4.52	0.55395	Coiled-coil domain containing protein 109, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	L	0.41079	1.255	0.80722	D	1	B;B;B	0.19445	0.029;0.003;0.036	B;B;B	0.27608	0.063;0.016;0.081	T	0.06770	-1.0808	10	0.41790	T	0.15	-13.62	6.2994	0.21105	0.0:0.2952:0.0:0.7048	.	111;62;111	Q8NE86-2;Q8NE86-3;Q8NE86	.;.;MCU_HUMAN	L	111;111;62	ENSP00000362144:F111L;ENSP00000349680:F111L;ENSP00000440913:F62L	ENSP00000349680:F111L	F	+	3	2	MCU	74289053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.708000	0.61859	0.973000	0.38340	0.477000	0.44152	TTT		0.423	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		G	74619047	T	G	74619047	3	3	229	1	0	0	0	0	1	0	0	0	2746	1838	64	5	343	5	CCDC109A	10	74619047	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08		74619047	60915700	53	13915											
C10orf79	80217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105922142	105922142	+	Missense_Mutation	SNP	A	A	C	rs367753321		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr10:105922142A>C	ENST00000357060.3	-	25	3381	c.3266T>G	c.(3265-3267)aTt>aGt	p.I1089S	WDR96_ENST00000428666.1_Missense_Mutation_p.I1090S	NM_025145.5	NP_079421.5												p.I1089S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACGGCTTAATGTGTTTGTG	0.408																																																1	Substitution - Missense(1)	kidney(1)											166	134	145					10																	105922142		2203	4300	6503	SO:0001583	missense	0																														ENST00000357060.3:c.3266T>G	10.37:g.105922142A>C	ENSP00000349568:p.Ile1089Ser			Missense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.17|12.17	1.856447|1.856447	0.32791|0.32791	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000434629	T;T|.	0.16196|.	2.4;2.36|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.593193|.	0.15023|.	N|.	0.284884|.	T|T	0.46112|0.46112	0.1376|0.1376	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B|.	0.25007|.	0.006;0.116|.	B;B|.	0.31101|.	0.018;0.124|.	T|T	0.38090|0.38090	-0.9677|-0.9677	10|5	0.26408|.	T|.	0.33|.	.|.	11.9237|11.9237	0.52806|0.52806	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1090;1089|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	S|V	1089;1090|450	ENSP00000349568:I1089S;ENSP00000400289:I1090S|.	ENSP00000349568:I1089S|.	I|L	-|-	2|1	0|2	WDR96|WDR96	105912132|105912132	0.011000|0.011000	0.17503|0.17503	0.004000|0.004000	0.12327|0.12327	0.010000|0.010000	0.07245|0.07245	2.629000|2.629000	0.46485|0.46485	2.126000|2.126000	0.65437|0.65437	0.443000|0.443000	0.29094|0.29094	ATT|TTA		0.408	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	105922142	A	C	105922142	3	2	229	1	0	0	0	0	1	0	0	0	1620	101	4	5	1787	5	C10orf79	10	105922142	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	31303095	105922142	29612605	54	13916											
CDHR5	53841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	621602	621602	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr11:621602T>C	ENST00000358353.3	-	6	789	c.467A>G	c.(466-468)aAg>aGg	p.K156R	CDHR5_ENST00000349570.7_Missense_Mutation_p.K156R|CDHR5_ENST00000397542.2_Missense_Mutation_p.K156R|CDHR5_ENST00000529337.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	156	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)	p.K156R(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						AATGTCGTCCTTGTCGCGGTC	0.642																																																1	Substitution - Missense(1)	kidney(1)											161	126	138					11																	621602		2203	4300	6503	SO:0001583	missense	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.467A>G	11.37:g.621602T>C	ENSP00000351118:p.Lys156Arg		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	t	6.618	0.482408	0.12581	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570;ENST00000526077;ENST00000534311	T;T;T;T;T	0.45276	1.18;1.18;1.18;0.9;0.9	3.91	-1.65	0.08291	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.22781	0.0550	L	0.41236	1.265	0.09310	N	1	B;P;B;B	0.45827	0.403;0.867;0.091;0.112	B;B;B;B	0.39027	0.088;0.288;0.027;0.019	T	0.15752	-1.0426	9	0.15952	T	0.53	-6.3668	0.6771	0.00869	0.3469:0.1063:0.1785:0.3682	.	156;156;156;156	Q58EZ6;Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;.;CDHR5_HUMAN	R	156;156;156;156;125;133	ENSP00000380676:K156R;ENSP00000351118:K156R;ENSP00000345726:K156R;ENSP00000435082:K125R;ENSP00000436295:K133R	ENSP00000326527:K156R	K	-	2	0	CDHR5	611602	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	-0.730000	0.04915	-0.140000	0.11394	-0.702000	0.03669	AAG		0.642	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		C	621602	T	C	621602	3	2	229	1	0	0	0	0	1	0	0	0	3124	1609	56	3	2114	3	CDHR5	11	621602	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08		621602	134384914	55	13917											
KIAA0652	9776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46666953	46666953	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr11:46666953C>A	ENST00000434074.1	+	3	823	c.134C>A	c.(133-135)cCa>cAa	p.P45Q	ATG13_ENST00000529655.1_Missense_Mutation_p.P45Q|ATG13_ENST00000451945.1_Missense_Mutation_p.P45Q|ATG13_ENST00000530500.1_5'UTR|ATG13_ENST00000526508.1_Missense_Mutation_p.P45Q|ATG13_ENST00000524625.1_Missense_Mutation_p.P45Q|ATG13_ENST00000312040.4_Missense_Mutation_p.P45Q|ATG13_ENST00000528494.1_Missense_Mutation_p.P45Q|ATG13_ENST00000359513.4_Missense_Mutation_p.P45Q	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	45					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)	p.P45Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TCATCTTCTCCAACGGGTTCA	0.348																																																2	Substitution - Missense(2)	kidney(2)											122	117	119					11																	46666953		2201	4299	6500	SO:0001583	missense	9776			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.134C>A	11.37:g.46666953C>A	ENSP00000400642:p.Pro45Gln		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775927	0.90195	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000533325;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.972;0.991;0.994	T	0.75277	-0.3374	9	0.66056	D	0.02	-13.3563	19.4568	0.94895	0.0:1.0:0.0:0.0	.	45;45;45	O75143;E9PQZ8;O75143-2	ATG13_HUMAN;.;.	Q	45	.	ENSP00000310321:P45Q	P	+	2	0	ATG13	46623529	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.103000	0.77014	2.832000	0.97577	0.655000	0.94253	CCA		0.348	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		A	46666953	C	A	46666953	3	1	229	1	0	0	0	0	1	0	0	0	8190	594	21	4	140	4	KIAA0652	11	46666953	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	46045351	46666953	88339563	56	13918											
FGF3	2248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	69631129	69631129	+	Missense_Mutation	SNP	G	G	A	rs281860303		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr11:69631129G>A	ENST00000334134.2	-	2	373	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	95					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.R95W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GCCAGGTACCGCCCGGAGAAG	0.607																																																1	Substitution - Missense(1)	kidney(1)											164	137	147					11																	69631129		2200	4294	6494	SO:0001583	missense	2248				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.283C>T	11.37:g.69631129G>A	ENSP00000334122:p.Arg95Trp		Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367914	0.61513	.	.	ENSG00000186895	ENST00000334134	T	0.69175	-0.38	4.83	3.9	0.45041	.	0.056028	0.64402	D	0.000001	T	0.81245	0.4782	M	0.86573	2.825	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.81385	-0.0957	9	.	.	.	.	8.2131	0.31494	0.0:0.1271:0.5573:0.3156	.	95	P11487	FGF3_HUMAN	W	95	ENSP00000334122:R95W	.	R	-	1	2	FGF3	69340066	1.000000	0.71417	0.908000	0.35775	0.997000	0.91878	3.455000	0.52993	1.004000	0.39156	0.555000	0.69702	CGG		0.607	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		A	69631129	G	A	69631129	3	1	229	1	0	0	0	0	1	0	0	0	5855	1086	38	1	444	1	FGF3	11	69631129	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	22964176	69631129	65375387	57	13919											
REXO2	25996	broad.mit.edu;hgsc.bcm.edu	37	11	114314631	114314631	+	Silent	SNP	T	T	C	rs199983925		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr11:114314631T>C	ENST00000265881.5	+	3	428	c.285T>C	c.(283-285)gaT>gaC	p.D95D	REXO2_ENST00000539275.1_Intron|RP11-212D19.4_ENST00000544347.1_3'UTR|REXO2_ENST00000538791.1_5'Flank|REXO2_ENST00000539754.1_Silent_p.D95D	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	95	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.D95D(1)		cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GCATGTCAGATTGGTGTAAGG	0.453																																																1	Substitution - coding silent(1)	kidney(1)											120	96	104					11																	114314631		2201	4296	6497	SO:0001819	synonymous_variant	25996			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"REX2, RNA exonuclease 2 homolog (S. cerevisiae)"			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.285T>C	11.37:g.114314631T>C			B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	ENST00000265881.5	37	CCDS8371.1	.	.	.	.	.	.	.	.	.	.	T	8.574	0.880645	0.17467	.	.	ENSG00000076043	ENST00000544827	.	.	.	5.97	-4.5	0.03493	.	.	.	.	.	T	0.46483	0.1395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46470	-0.9189	4	.	.	.	-13.774	4.8023	0.13303	0.1068:0.4704:0.1638:0.2589	.	.	.	.	T	55	.	.	I	+	2	0	REXO2	113819841	0.850000	0.29656	0.991000	0.47740	0.992000	0.81027	-0.127000	0.10547	-0.386000	0.07821	-0.290000	0.09829	ATT		0.453	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399087.1	NM_015523		C	114314631	T	C	114314631	2	2	229	1	0	0	0	0	0	0	0	1	13248	1490	52	3		3	REXO2	11	114314631	Silent	SNP	T	TCGA-B0-5713-01A-11D-1669-08	44683502	114314631	20691885	58	13920											
CACNA2D4	93589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2027490	2027490	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:2027490delG	ENST00000382722.5	-	1	512	c.150delC	c.(148-150)accfs	p.T50fs	CACNA2D4_ENST00000585732.1_Frame_Shift_Del_p.T50fs|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.T50fs|CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.T50fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	50					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGAGGGCCGAGGTCTTCTGCA	0.622																																					Colon(2;101 179 21030 23310 28141)											0													22	25	24					12																	2027490		1898	4123	6021	SO:0001589	frameshift_variant	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.150delC	12.37:g.2027490delG	ENSP00000372169:p.Thr50fs		Q7Z3S8|Q86XZ5|Q8IZS9	Frame_Shift_Del	DEL	ENST00000382722.5	37	CCDS44785.1																																																																																				0.622	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			-	2027490	G	-	2027490	7	5	229	1	0	1	0	1	0	0	0	0	2553	987	35	0	3415	0	CACNA2D4	12	2027490	Frame_Shift_Del	DEL	G	TCGA-B0-5713-01A-11D-1669-08		2027490	131824405	59	13921											
TAS2R42	353164	broad.mit.edu;hgsc.bcm.edu	37	12	11339532	11339532	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:11339532T>G	ENST00000334266.1	-	1	11	c.12A>C	c.(10-12)gaA>gaC	p.E4D		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	4					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E4D(1)		breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			TTTTGTCCAATTCGGTGGCCA	0.368																																					Melanoma(15;352 722 10077 19546 48810)											1	Substitution - Missense(1)	kidney(1)											60	64	63					12																	11339532		2203	4298	6501	SO:0001583	missense	353164			AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.12A>C	12.37:g.11339532T>G	ENSP00000334050:p.Glu4Asp		A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	.	3.485	-0.105069	0.06967	.	.	ENSG00000186136	ENST00000334266	T	0.00768	5.72	3.2	-0.73	0.11154	.	2.013780	0.03492	U	0.216738	T	0.00875	0.0029	L	0.46157	1.445	0.09310	N	1	P	0.39216	0.664	B	0.38562	0.276	T	0.48234	-0.9053	10	0.12103	T	0.63	.	2.1613	0.03826	0.2831:0.2861:0.0:0.4308	.	4	Q7RTR8	T2R42_HUMAN	D	4	ENSP00000334050:E4D	ENSP00000334050:E4D	E	-	3	2	TAS2R42	11230799	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.742000	0.04850	0.002000	0.14630	0.460000	0.39030	GAA		0.368	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		G	11339532	T	G	11339532	3	3	229	1	0	0	0	0	1	0	0	0	15585	1490	52	5	936	5	TAS2R42	12	11339532	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08	9312042	11339532	122512363	60	13922											
ESPL1	9700	broad.mit.edu	37	12	53670456	53670456	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:53670456C>T	ENST00000257934.4	+	8	1844	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	ESPL1_ENST00000552462.1_Silent_p.L585L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	585					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.L585L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCCCTCCTGCTGAGGGAGGA	0.637																																					Colon(53;1069 1201 2587 5382)											1	Substitution - coding silent(1)	kidney(1)											24	24	24					12																	53670456		2200	4297	6497	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1753C>T	12.37:g.53670456C>T				Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																				0.637	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53670456	C	T	53670456	2	4	229	1	0	0	0	0	0	0	0	1	5255	796	28	2		2	ESPL1	12	53670456	Silent	SNP	C	TCGA-B0-5713-01A-11D-1669-08	42330924	53670456	80181439	61	13923											
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53685569	53685569	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:53685569C>T	ENST00000257934.4	+	26	5707	c.5616C>T	c.(5614-5616)ctC>ctT	p.L1872L	ESPL1_ENST00000552462.1_Silent_p.L1872L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1872					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.L1872L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCAGGAGCTCCTGAATGAGG	0.612																																					Colon(53;1069 1201 2587 5382)											1	Substitution - coding silent(1)	kidney(1)											132	123	126					12																	53685569		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5616C>T	12.37:g.53685569C>T				Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																				0.612	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53685569	C	T	53685569	2	4	229	1	0	0	0	0	0	0	0	1	5255	842	30	2		2	ESPL1	12	53685569	Silent	SNP	C	TCGA-B0-5713-01A-11D-1669-08	15113	53685569	80166326	62	13924											
FGD6	55785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	95546724	95546724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:95546724C>A	ENST00000343958.4	-	4	2855	c.2632G>T	c.(2632-2634)Gag>Tag	p.E878*	FGD6_ENST00000549499.1_Nonsense_Mutation_p.E878*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.E878*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	878	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E878*(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCATGATCTCCTTGGCAATA	0.333																																																1	Substitution - Nonsense(1)	kidney(1)											172	169	170					12																	95546724		2203	4300	6503	SO:0001587	stop_gained	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2632G>T	12.37:g.95546724C>A	ENSP00000344446:p.Glu878*		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Nonsense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	42	9.350047	0.99145	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	.	.	.	6.04	6.04	0.98038	.	0.000000	0.49305	D	0.000144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.3216	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	X	878	.	ENSP00000344446:E878X	E	-	1	0	FGD6	94070855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.273000	0.72581	2.873000	0.98535	0.561000	0.74099	GAG		0.333	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		A	95546724	C	A	95546724	4	1	229	1	0	0	0	0	0	1	0	0	5839	864	30	4	1732	4	FGD6	12	95546724	Nonsense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	41861155	95546724	38305171	63	13925											
STAB2	55576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104056757	104056757	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:104056757C>A	ENST00000388887.2	+	18	2207	c.2003C>A	c.(2002-2004)aCa>aAa	p.T668K		NM_017564.9	NP_060034.9			stabilin 2									p.T668K(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTGATGAAACAAAGAGAGAG	0.458																																																1	Substitution - Missense(1)	kidney(1)											116	114	114					12																	104056757		2203	4300	6503	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2003C>A	12.37:g.104056757C>A	ENSP00000373539:p.Thr668Lys			Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	5.343	0.248596	0.10130	.	.	ENSG00000136011	ENST00000388887	T	0.62498	0.02	5.31	2.46	0.29980	.	0.342311	0.29822	N	0.011113	T	0.36552	0.0971	N	0.20685	0.6	0.09310	N	1	B	0.28713	0.22	B	0.30495	0.116	T	0.25882	-1.0119	10	0.06757	T	0.87	.	3.6469	0.08188	0.168:0.5712:0.1138:0.1469	.	668	Q8WWQ8	STAB2_HUMAN	K	668	ENSP00000373539:T668K	ENSP00000373539:T668K	T	+	2	0	STAB2	102580887	0.000000	0.05858	0.019000	0.16419	0.260000	0.26232	0.546000	0.23284	0.219000	0.20840	0.655000	0.94253	ACA		0.458	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	104056757	C	A	104056757	3	1	229	1	0	0	0	0	1	0	0	0	15243	478	17	4	2073	4	STAB2	12	104056757	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	8510033	104056757	29795138	64	13926											
HSP90B1	7184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104341195	104341195	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:104341195A>C	ENST00000299767.5	+	17	2551	c.2369A>C	c.(2368-2370)gAa>gCa	p.E790A	C12orf73_ENST00000543740.2_5'Flank	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	790					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.E790A(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	gatgaagaagaagaaACAGCA	0.418																																																1	Substitution - Missense(1)	kidney(1)											222	226	225					12																	104341195		2203	4300	6503	SO:0001583	missense	7184			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2369A>C	12.37:g.104341195A>C	ENSP00000299767:p.Glu790Ala		Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.79|14.79	2.641172|2.641172	0.47153|0.47153	.|.	.|.	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.09630|.	2.96|.	4.76|4.76	3.61|3.61	0.41365|0.41365	.|.	1.212360|.	0.05821|.	N|.	0.615759|.	T|T	0.39572|0.39572	0.1083|0.1083	N|N	0.19112|0.19112	0.55|0.55	0.37603|0.37603	D|D	0.920635|0.920635	B|.	0.12630|.	0.006|.	B|.	0.12156|.	0.007|.	T|T	0.29761|0.29761	-1.0001|-1.0001	10|5	0.56958|.	D|.	0.05|.	.|.	8.7015|8.7015	0.34329|0.34329	0.9092:0.0:0.0908:0.0|0.9092:0.0:0.0908:0.0	.|.	790|.	P14625|.	ENPL_HUMAN|.	A|Q	790;540|141	ENSP00000299767:E790A|.	ENSP00000299767:E790A|.	E|K	+|+	2|1	0|0	HSP90B1|HSP90B1	102865325|102865325	0.132000|0.132000	0.22450|0.22450	0.954000|0.954000	0.39281|0.39281	0.965000|0.965000	0.64279|0.64279	2.870000|2.870000	0.48451|0.48451	0.923000|0.923000	0.37045|0.37045	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.418	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		C	104341195	A	C	104341195	3	2	229	1	0	0	0	0	1	0	0	0	7405	246	9	5	2435	5	HSP90B1	12	104341195	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	284438	104341195	29510700	65	13927											
GPC5	2262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	92346002	92346002	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr13:92346002T>C	ENST00000377067.3	+	3	1259	c.887T>C	c.(886-888)aTc>aCc	p.I296T		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	296					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.I296T(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CATGCATATATCCGGTCGTTG	0.512																																																1	Substitution - Missense(1)	kidney(1)											130	118	122					13																	92346002		2203	4300	6503	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.887T>C	13.37:g.92346002T>C	ENSP00000366267:p.Ile296Thr		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.550348	0.65311	.	.	ENSG00000179399	ENST00000377067	T	0.59224	0.28	5.59	5.59	0.84812	.	0.051058	0.85682	D	0.000000	T	0.65523	0.2699	M	0.73598	2.24	0.45250	D	0.998256	B	0.33379	0.41	B	0.41174	0.349	T	0.69394	-0.5157	10	0.87932	D	0	-20.888	14.9507	0.71071	0.0:0.0:0.0:1.0	.	296	P78333	GPC5_HUMAN	T	296	ENSP00000366267:I296T	ENSP00000366267:I296T	I	+	2	0	GPC5	91144003	1.000000	0.71417	0.993000	0.49108	0.568000	0.35870	8.040000	0.89188	2.122000	0.65172	0.528000	0.53228	ATC		0.512	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		C	92346002	T	C	92346002	3	2	229	1	0	0	0	0	1	0	0	0	6603	1435	50	3	897	3	GPC5	13	92346002	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08		92346002	22823876	66	13928											
TM9SF2	9375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	100207857	100207857	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr13:100207857T>A	ENST00000376387.4	+	15	1898	c.1708T>A	c.(1708-1710)Tct>Act	p.S570T		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	570					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.S570T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TATTACCTGTTCTGAAGCAAC	0.338																																																1	Substitution - Missense(1)	kidney(1)											255	218	231					13																	100207857		2202	4300	6502	SO:0001583	missense	9375			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1708T>A	13.37:g.100207857T>A	ENSP00000365567:p.Ser570Thr		A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979375	0.74360	.	.	ENSG00000125304	ENST00000376387	T	0.46451	0.87	5.68	5.68	0.88126	.	0.047242	0.85682	D	0.000000	T	0.50240	0.1604	M	0.79343	2.45	0.80722	D	1	B;B	0.31153	0.31;0.18	B;B	0.34242	0.178;0.178	T	0.54906	-0.8223	10	0.72032	D	0.01	-36.7566	16.2164	0.82224	0.0:0.0:0.0:1.0	.	536;570	E9PHW5;Q99805	.;TM9S2_HUMAN	T	570	ENSP00000365567:S570T	ENSP00000365567:S570T	S	+	1	0	TM9SF2	99005858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.948000	0.87774	2.289000	0.77006	0.533000	0.62120	TCT		0.338	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			A	100207857	T	A	100207857	3	1	229	1	0	0	0	0	1	0	0	0	15983	1783	62	5	1766	5	TM9SF2	13	100207857	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08	7861855	100207857	14962021	67	13929											
OXA1L	9056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23239464	23239464	+	IGR	SNP	C	C	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:23239464C>G	ENST00000397532.3	-	0	2447				OXA1L_ENST00000412791.1_Missense_Mutation_p.P216A|OXA1L_ENST00000604262.1_Missense_Mutation_p.P216A|OXA1L_ENST00000285848.5_Missense_Mutation_p.P276A|OXA1L_ENST00000358043.5_Missense_Mutation_p.P200A			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)	p.P276A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACTCTATAAACCTCTCATTCT	0.423																																																1	Substitution - Missense(1)	kidney(1)											75	71	72					14																	23239464		2203	4300	6503	SO:0001628	intergenic_variant	5018			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		14.37:g.23239464C>G			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774653	0.31411	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.29655	1.56;1.59;1.58	5.99	4.14	0.48551	.	0.099426	0.64402	D	0.000002	T	0.26412	0.0645	L	0.33668	1.02	0.36559	D	0.872281	P;B;P	0.49447	0.562;0.188;0.924	B;B;P	0.47251	0.266;0.229;0.542	T	0.17077	-1.0381	10	0.33940	T	0.23	-16.6951	8.37	0.32410	0.0:0.5968:0.3125:0.0907	.	216;216;276	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	A	276;85;216;200	ENSP00000285848:P276A;ENSP00000387601:P216A;ENSP00000350740:P200A	ENSP00000285848:P276A	P	+	1	0	OXA1L	22309304	0.997000	0.39634	0.956000	0.39512	0.756000	0.42949	3.172000	0.50832	1.545000	0.49373	-0.140000	0.14226	CCT		0.423	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			G	23239464	C	G	23239464	1	3	229	0	1	0	0	0	0	0	0	0	11330	507	18	4		4	OXA1L	14	23239464	IGR	SNP	C	TCGA-B0-5713-01A-11D-1669-08		23239464	84110076	68	13930											
IRF9	10379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24633841	24633841	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:24633841C>G	ENST00000396864.3	+	7	955	c.668C>G	c.(667-669)aCc>aGc	p.T223S	IRF9_ENST00000557894.1_Missense_Mutation_p.T121S|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	223					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T223S(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CTGCTGCTCACCTTCATCTAC	0.632																																																1	Substitution - Missense(1)	kidney(1)											87	88	88					14																	24633841		2202	4300	6502	SO:0001583	missense	10379			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.668C>G	14.37:g.24633841C>G	ENSP00000380073:p.Thr223Ser		D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	C	8.264	0.811907	0.16537	.	.	ENSG00000213928	ENST00000396864	T	0.80480	-1.38	5.32	5.32	0.75619	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.180634	0.36555	U	0.002527	T	0.81908	0.4922	L	0.37850	1.14	0.28479	N	0.915062	D	0.58970	0.984	P	0.62435	0.902	T	0.72587	-0.4248	10	0.16420	T	0.52	-21.8671	14.357	0.66745	0.0:1.0:0.0:0.0	.	223	Q00978	IRF9_HUMAN	S	223	ENSP00000380073:T223S	ENSP00000380073:T223S	T	+	2	0	IRF9	23703681	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.230000	0.32612	2.769000	0.95229	0.563000	0.77884	ACC		0.632	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			G	24633841	C	G	24633841	3	3	229	1	0	0	0	0	1	0	0	0	7839	507	18	4	690	4	IRF9	14	24633841	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	1394377	24633841	82715699	69	13931											
SYT16	83851	hgsc.bcm.edu;ucsc.edu	37	14	62462755	62462755	+	Silent	SNP	G	G	A	rs373261948		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:62462755G>A	ENST00000430451.2	+	1	215	c.18G>A	c.(16-18)gcG>gcA	p.A6A	SYT16_ENST00000446982.2_Silent_p.A6A	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	6					exocytosis (GO:0006887)			p.A6A(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGCCATGGCGTCTCAGGATG	0.468																																																2	Substitution - coding silent(2)	kidney(2)						G		0,3806		0,0,1903	70	68	69		18	-9.7	0.3	14		69	1,8249		0,1,4124	no	coding-synonymous	SYT16	NM_031914.2		0,1,6027	AA,AG,GG		0.0121,0.0,0.0083		6/646	62462755	1,12055	1903	4125	6028	SO:0001819	synonymous_variant	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.18G>A	14.37:g.62462755G>A			B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	CCDS45121.1																																																																																				0.468	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		A	62462755	G	A	62462755	2	1	229	1	0	0	0	0	0	0	0	1	15477	1132	40	1		1	SYT16	14	62462755	Silent	SNP	G	TCGA-B0-5713-01A-11D-1669-08	37828914	62462755	44886785	70	13932											
SIPA1L1	26037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	72055449	72055449	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:72055449A>T	ENST00000555818.1	+	2	1208	c.860A>T	c.(859-861)aAa>aTa	p.K287I	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.K287I|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.K287I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	287					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.K287I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CGACGTTCAAAATCTGAAACT	0.423																																																1	Substitution - Missense(1)	kidney(1)											68	72	71					14																	72055449		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.860A>T	14.37:g.72055449A>T	ENSP00000450832:p.Lys287Ile		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.757263	0.49468	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.47528	0.84;0.84;0.84	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.997	P;D;D	0.91635	0.728;0.999;0.916	T	0.72027	-0.4414	10	0.87932	D	0	-33.844	16.6406	0.85098	1.0:0.0:0.0:0.0	.	287;287;287	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	I	287	ENSP00000370630:K287I;ENSP00000450832:K287I;ENSP00000351352:K287I	ENSP00000351352:K287I	K	+	2	0	SIPA1L1	71125202	1.000000	0.71417	0.999000	0.59377	0.209000	0.24338	7.355000	0.79434	2.326000	0.78906	0.533000	0.62120	AAA		0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		T	72055449	A	T	72055449	3	4	229	1	0	0	0	0	1	0	0	0	14335	14	1	5	862	5	SIPA1L1	14	72055449	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	9592694	72055449	35294091	71	13933											
C14orf43	91748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74205375	74205375	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:74205375A>T	ENST00000286523.5	-	2	2119	c.1337T>A	c.(1336-1338)cTa>cAa	p.L446Q	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.L446Q|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L446Q(1)									TCCGCCCCGTAGCACCTGCCC	0.677																																																1	Substitution - Missense(1)	kidney(1)											47	45	46					14																	74205375		2203	4300	6503	SO:0001583	missense	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1337T>A	14.37:g.74205375A>T	ENSP00000286523:p.Leu446Gln		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.793921	0.31777	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	4.69	3.55	0.40652	.	0.531605	0.16433	N	0.214636	T	0.08802	0.0218	N	0.08118	0	0.24560	N	0.993972	B;B	0.33448	0.412;0.412	B;B	0.32289	0.1;0.143	T	0.21552	-1.0242	10	0.49607	T	0.09	-1.0193	8.9755	0.35932	0.8419:0.0:0.1581:0.0	.	446;446	A0PJD3;Q6PJG2	.;CN043_HUMAN	Q	446	ENSP00000377634:L446Q;ENSP00000286523:L446Q;ENSP00000407767:L446Q;ENSP00000402380:L446Q	ENSP00000286523:L446Q	L	-	2	0	C14orf43	73275128	0.992000	0.36948	0.996000	0.52242	0.811000	0.45836	2.151000	0.42263	0.660000	0.30964	0.402000	0.26972	CTA		0.677	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		T	74205375	A	T	74205375	3	4	229	1	0	0	0	0	1	0	0	0	1776	420	15	5	1844	5	C14orf43	14	74205375	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	2149926	74205375	33144165	72	13934											
OTUB2	78990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94511094	94511094	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:94511094G>A	ENST00000203664.5	+	5	675	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	156	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.E156K(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		CTTCATTGATGAGGAGATGGA	0.592																																																1	Substitution - Missense(1)	kidney(1)											74	62	66					14																	94511094		2203	4300	6503	SO:0001583	missense	78990			AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"OTU domain containing"	20351	protein-coding gene	gene with protein product		608338	"chromosome 14 open reading frame 137", "OTU domain, ubiquitin aldehyde binding 2"	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.466G>A	14.37:g.94511094G>A	ENSP00000203664:p.Glu156Lys		Q6IA10|Q9H6T1	Missense_Mutation	SNP	ENST00000203664.5	37	CCDS9917.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160752	0.94727	.	.	ENSG00000089723	ENST00000203664	T	0.47869	0.83	5.45	5.45	0.79879	Ovarian tumour, otubain (1);	0.124834	0.53938	D	0.000054	T	0.50786	0.1636	L	0.41824	1.3	0.80722	D	1	P	0.52463	0.953	P	0.50659	0.647	T	0.46205	-0.9208	10	0.41790	T	0.15	-23.5162	16.7746	0.85548	0.0:0.0:1.0:0.0	.	156	Q96DC9	OTUB2_HUMAN	K	156	ENSP00000203664:E156K	ENSP00000203664:E156K	E	+	1	0	OTUB2	93580847	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	7.317000	0.79018	2.557000	0.86248	0.561000	0.74099	GAG		0.592	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412855.1			A	94511094	G	A	94511094	3	1	229	1	0	0	0	0	1	0	0	0	11314	1291	45	2	484	2	OTUB2	14	94511094	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	20305719	94511094	12838446	73	13935											
SERPINA12	145264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94964436	94964436	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:94964436T>A	ENST00000341228.2	-	3	1094	c.299A>T	c.(298-300)cAg>cTg	p.Q100L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.Q100L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	100					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q100L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTTGAACCCCTGCTTGATCTC	0.527																																																1	Substitution - Missense(1)	kidney(1)											98	99	99					14																	94964436		2203	4300	6503	SO:0001583	missense	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.299A>T	14.37:g.94964436T>A	ENSP00000342109:p.Gln100Leu			Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016973	0.35606	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.88354	-2.37;-2.37	5.59	4.45	0.53987	Serpin domain (3);	1.527140	0.03622	N	0.236555	D	0.88153	0.6360	M	0.62088	1.915	0.09310	N	1	B	0.31548	0.328	B	0.32762	0.152	T	0.73917	-0.3831	10	0.72032	D	0.01	.	5.4959	0.16802	0.0:0.1615:0.1488:0.6897	.	100	Q8IW75	SPA12_HUMAN	L	100	ENSP00000451738:Q100L;ENSP00000342109:Q100L	ENSP00000342109:Q100L	Q	-	2	0	SERPINA12	94034189	0.000000	0.05858	0.007000	0.13788	0.033000	0.12548	0.085000	0.14912	0.962000	0.38057	0.533000	0.62120	CAG		0.527	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		A	94964436	T	A	94964436	3	1	229	1	0	0	0	0	1	0	0	0	14095	1580	55	5	961	5	SERPINA12	14	94964436	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08	453342	94964436	12385104	74	13936											
BCL11B	64919	broad.mit.edu;hgsc.bcm.edu	37	14	99641322	99641322	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:99641322C>T	ENST00000357195.3	-	4	1860	c.1851G>A	c.(1849-1851)aaG>aaA	p.K617K	BCL11B_ENST00000443726.2_Silent_p.K423K|BCL11B_ENST00000345514.2_Silent_p.K546K	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	617	Gly-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.K617K(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGCGCTTCTGCTTGTCGGCCA	0.756			T	TLX3	T-ALL																																		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	1	Substitution - coding silent(1)	kidney(1)											15	14	15					14																	99641322		2038	3913	5951	SO:0001819	synonymous_variant	64919			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1851G>A	14.37:g.99641322C>T			Q9H162	Silent	SNP	ENST00000357195.3	37	CCDS9950.1																																																																																				0.756	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		T	99641322	C	T	99641322	2	4	229	1	0	0	0	0	0	0	0	1	1364	796	28	2		2	BCL11B	14	99641322	Silent	SNP	C	TCGA-B0-5713-01A-11D-1669-08	4676886	99641322	7708218	75	13937											
SPG21	51324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65273294	65273294	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr15:65273294G>T	ENST00000204566.2	-	3	428	c.133C>A	c.(133-135)Cct>Act	p.P45T	SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000433215.2_Missense_Mutation_p.P45T|SPG21_ENST00000416889.2_Missense_Mutation_p.P45T|SPG21_ENST00000560564.1_5'UTR	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	45					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)	p.P45T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AATATGAGAGGACACCTGATA	0.478																																																1	Substitution - Missense(1)	kidney(1)											86	80	82					15																	65273294		2202	4299	6501	SO:0001583	missense	51324			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"maspardin"	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.133C>A	15.37:g.65273294G>T	ENSP00000204566:p.Pro45Thr		B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092918	0.94149	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T	0.33438	1.41;1.41	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.51180	-0.8738	10	0.32370	T	0.25	-9.0198	18.8037	0.92028	0.0:0.0:1.0:0.0	.	45;45	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	T	45	ENSP00000204566:P45T;ENSP00000404111:P45T	ENSP00000204566:P45T	P	-	1	0	SPG21	63060347	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.767000	0.98960	2.682000	0.91365	0.650000	0.86243	CCT		0.478	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		T	65273294	G	T	65273294	3	4	229	1	0	0	0	0	1	0	0	0	15048	1174	41	4	821	4	SPG21	15	65273294	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08		65273294	37258098	76	13938											
SPESP1	246777	hgsc.bcm.edu;ucsc.edu	37	15	69238350	69238350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr15:69238350delA	ENST00000310673.3	+	2	631	c.477delA	c.(475-477)ccafs	p.P159fs	NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	159					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGAGGCACCAAGAATGTTGC	0.433																																																0													96	96	96					15																	69238350		2200	4298	6498	SO:0001589	frameshift_variant	246777			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.477delA	15.37:g.69238350delA	ENSP00000312284:p.Pro159fs		Q8NG22|Q8WVH8	Frame_Shift_Del	DEL	ENST00000310673.3	37	CCDS10230.1																																																																																				0.433	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		-	69238350	A	-	69238350	7	5	229	1	0	1	0	1	0	0	0	0	15045	117	5	0	483	0	SPESP1	15	69238350	Frame_Shift_Del	DEL	A	TCGA-B0-5713-01A-11D-1669-08	3965056	69238350	33293042	77	13939											
HCN4	10021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	73616205	73616205	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr15:73616205C>A	ENST00000261917.3	-	8	3222	c.2229G>T	c.(2227-2229)caG>caT	p.Q743H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	743					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.Q743H(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCACAATCTGCTGGATGATCT	0.617																																																1	Substitution - Missense(1)	kidney(1)											66	72	70					15																	73616205		2198	4297	6495	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2229G>T	15.37:g.73616205C>A	ENSP00000261917:p.Gln743His		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923447	0.33908	.	.	ENSG00000138622	ENST00000261917	T	0.80480	-1.38	3.46	2.5	0.30297	.	.	.	.	.	D	0.86879	0.6039	M	0.76328	2.33	0.44129	D	0.996918	D	0.76494	0.999	D	0.80764	0.994	D	0.86531	0.1822	9	0.59425	D	0.04	.	9.0434	0.36331	0.0:0.8161:0.0:0.1839	.	743	Q9Y3Q4	HCN4_HUMAN	H	743	ENSP00000261917:Q743H	ENSP00000261917:Q743H	Q	-	3	2	HCN4	71403258	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.343000	0.52167	1.761000	0.52028	0.313000	0.20887	CAG		0.617	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		A	73616205	C	A	73616205	3	1	229	1	0	0	0	0	1	0	0	0	7001	796	28	4	1386	4	HCN4	15	73616205	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	4377855	73616205	28915187	78	13940											
RAB11FIP3	9727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	476674	476674	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:476674G>T	ENST00000262305.4	+	1	1056	c.668G>T	c.(667-669)cGc>cTc	p.R223L	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.R223L	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	223	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.R223L(1)		breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GGTTTCGTCCGCATCGAGGAC	0.711																																					Melanoma(160;2366 2595 4474 8099)											1	Substitution - Missense(1)	kidney(1)											27	36	33					16																	476674		2198	4298	6496	SO:0001583	missense	9727			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.668G>T	16.37:g.476674G>T	ENSP00000262305:p.Arg223Leu		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	ENST00000262305.4	37	CCDS32351.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387123	0.82902	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585	T;T;T	0.71341	-0.56;-0.56;-0.56	3.32	2.35	0.29111	EF-hand-like domain (1);	.	.	.	.	T	0.71350	0.3329	M	0.66297	2.02	0.80722	D	1	P	0.47409	0.895	P	0.50162	0.633	T	0.69537	-0.5119	9	0.59425	D	0.04	.	6.347	0.21355	0.2396:0.0:0.7604:0.0	.	223	O75154	RFIP3_HUMAN	L	223;223;99	ENSP00000262305:R223L;ENSP00000398730:R223L;ENSP00000399644:R99L	ENSP00000262305:R223L	R	+	2	0	RAB11FIP3	416675	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.551000	0.53698	0.597000	0.29811	0.393000	0.25936	CGC		0.711	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		T	476674	G	T	476674	3	4	229	1	0	0	0	0	1	0	0	0	12901	1087	38	4	670	4	RAB11FIP3	16	476674	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08		476674	89878079	79	13941											
CORO7	79585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4408461	4408461	+	Silent	SNP	C	C	T	rs151072609		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:4408461C>T	ENST00000251166.4	-	24	2509	c.2364G>A	c.(2362-2364)acG>acA	p.T788T	CORO7_ENST00000539968.1_Silent_p.T568T|CORO7-PAM16_ENST00000572467.1_Silent_p.T788T|CORO7_ENST00000574025.1_Silent_p.T703T|PAM16_ENST00000576217.1_5'Flank|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000537233.2_Silent_p.T770T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	788					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.T788T(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CGTCGCACTCCGTCTTAGGCA	0.697																																																1	Substitution - coding silent(1)	kidney(1)											37	39	39					16																	4408461		2196	4298	6494	SO:0001819	synonymous_variant	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2364G>A	16.37:g.4408461C>T			B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	CCDS10513.1																																																																																				0.697	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		T	4408461	C	T	4408461	2	4	229	1	0	0	0	0	0	0	0	1	3761	639	23	1		1	CORO7	16	4408461	Silent	SNP	C	TCGA-B0-5713-01A-11D-1669-08	3931787	4408461	85946292	80	13942											
TMC5	79838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	19475156	19475156	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:19475156A>G	ENST00000396229.2	+	8	2044	c.1295A>G	c.(1294-1296)cAg>cGg	p.Q432R	TMC5_ENST00000381414.4_Missense_Mutation_p.Q432R|TMC5_ENST00000561503.1_Missense_Mutation_p.Q73R|TMC5_ENST00000541464.1_Missense_Mutation_p.Q432R|TMC5_ENST00000564959.1_Missense_Mutation_p.Q115R|TMC5_ENST00000542583.2_Missense_Mutation_p.Q432R|TMC5_ENST00000219821.5_Missense_Mutation_p.Q186R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	432					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q432R(1)|p.Q186R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGCCTGTGGCAGAAGACGCTG	0.458																																																2	Substitution - Missense(2)	kidney(2)											115	99	104					16																	19475156		2197	4300	6497	SO:0001583	missense	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1295A>G	16.37:g.19475156A>G	ENSP00000379531:p.Gln432Arg		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.136831	0.56936	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.68	5.68	0.88126	.	0.164710	0.56097	D	0.000027	T	0.48786	0.1519	N	0.21448	0.665	0.51482	D	0.999929	D;B;D;D;D;D	0.76494	0.999;0.057;0.999;0.998;0.998;0.999	D;B;D;D;D;D	0.71414	0.973;0.05;0.973;0.919;0.94;0.973	T	0.39354	-0.9618	10	0.21540	T	0.41	-19.8255	15.9365	0.79712	1.0:0.0:0.0:0.0	.	432;115;186;186;432;432	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	R	432;432;432;432;186;115	ENSP00000441227:Q432R;ENSP00000370822:Q432R;ENSP00000379531:Q432R;ENSP00000446274:Q432R;ENSP00000219821:Q186R	ENSP00000219821:Q186R	Q	+	2	0	TMC5	19382657	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.105000	0.77031	2.170000	0.68504	0.528000	0.53228	CAG		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		G	19475156	A	G	19475156	3	3	229	1	0	0	0	0	1	0	0	0	15993	188	7	3	1631	3	TMC5	16	19475156	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	15066695	19475156	70879597	81	13943											
ITGAL	3683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30505581	30505581	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:30505581C>T	ENST00000356798.6	+	12	1442	c.1262C>T	c.(1261-1263)gCc>gTc	p.A421V	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Missense_Mutation_p.A338V|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	421					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.A421V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TCGTTGCTGGCCTCGGGAGCC	0.602																																					NSCLC(110;1462 1641 3311 33990 49495)											1	Substitution - Missense(1)	kidney(1)											54	56	56					16																	30505581		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1262C>T	16.37:g.30505581C>T	ENSP00000349252:p.Ala421Val		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	6.211	0.407051	0.11754	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.13538	2.58;2.58	5.79	5.79	0.91817	.	0.222230	0.31909	N	0.006877	T	0.10809	0.0264	L	0.28504	0.86	0.80722	D	1	P;P	0.49185	0.92;0.64	B;B	0.43052	0.406;0.267	T	0.04065	-1.0980	10	0.02654	T	1	.	15.5362	0.76004	0.0:1.0:0.0:0.0	.	338;421	Q96HB1;P20701	.;ITAL_HUMAN	V	421;338	ENSP00000349252:A421V;ENSP00000350886:A338V	ENSP00000349252:A421V	A	+	2	0	ITGAL	30413082	0.779000	0.28652	0.965000	0.40720	0.042000	0.13812	1.207000	0.32333	2.740000	0.93945	0.563000	0.77884	GCC		0.602	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			T	30505581	C	T	30505581	3	4	229	1	0	0	0	0	1	0	0	0	7888	739	26	2	1308	2	ITGAL	16	30505581	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	11030425	30505581	59849172	82	13944											
ACD	65057	broad.mit.edu;ucsc.edu	37	16	67694268	67694269	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:67694268_67694269insG	ENST00000393919.4	-	1	377_378	c.113_114insC	c.(112-114)cctfs	p.P38fs	PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000458121.2_5'Flank|ACD_ENST00000219251.8_Frame_Shift_Ins_p.P38fs|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	38					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCTGCGCACGAGGGCGTCCTGC	0.723																																																0																																										SO:0001589	frameshift_variant	65057			AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"TIN2 interacting protein 1", "POT1 and TIN2 organizing protein"	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.114dupC	16.37:g.67694271_67694271dupG	ENSP00000377496:p.Pro38fs		Q562H5|Q9H8F9	Frame_Shift_Ins	INS	ENST00000393919.4	37	CCDS42181.1																																																																																				0.723	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		G	67694269	-	G	67694268	7	5	229	1	0	1	1	0	0	0	0	0	135	291	11	0	1568	0	ACD	16	67694268	Frame_Shift_Ins	INS	-	TCGA-B0-5713-01A-11D-1669-08	37188687	67694268	22660485	83	13945											
ZFP90	146198	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68598499	68598499	+	Silent	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:68598499T>C	ENST00000570495.1	+	5	2101	c.1809T>C	c.(1807-1809)caT>caC	p.H603H	ZFP90_ENST00000563169.2_Silent_p.H603H|ZFP90_ENST00000398253.2_Silent_p.H603H			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	603					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.H603H(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGAATTCATACTGGAGAAA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											99	111	107					16																	68598499		2138	4286	6424	SO:0001819	synonymous_variant	146198			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1809T>C	16.37:g.68598499T>C			B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.658142	0.29425	.	.	ENSG00000184939	ENST00000327567	.	.	.	5.96	0.885	0.19188	.	.	.	.	.	T	0.32585	0.0834	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05419	-1.0886	5	0.09338	T	0.73	-11.2196	5.3952	0.16265	0.0:0.3049:0.1408:0.5543	.	.	.	.	T	76	.	ENSP00000329859:I76T	I	+	2	0	ZFP90	67156000	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.449000	0.21744	0.141000	0.18875	0.454000	0.30748	ATA		0.398	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		C	68598499	T	C	68598499	2	2	229	1	0	0	0	0	0	0	0	1	17659	1403	49	3		3	ZFP90	16	68598499	Silent	SNP	T	TCGA-B0-5713-01A-11D-1669-08	904231	68598499	21756254	84	13946											
MLYCD	23417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	83949048	83949048	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:83949048A>G	ENST00000262430.4	+	5	1455	c.1436A>G	c.(1435-1437)cAg>cGg	p.Q479R	RP11-505K9.4_ENST00000566309.1_Intron|RP11-505K9.4_ENST00000561562.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	479	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)	p.Q479R(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GCCTCTGAGCAGGTCCTCAGC	0.557																																																1	Substitution - Missense(1)	kidney(1)											27	29	29					16																	83949048		1953	4144	6097	SO:0001583	missense	23417			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1436A>G	16.37:g.83949048A>G	ENSP00000262430:p.Gln479Arg		Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912205	0.72983	.	.	ENSG00000103150	ENST00000262430	D	0.94376	-3.41	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.95004	0.8383	M	0.71581	2.175	0.80722	D	1	D	0.63046	0.992	P	0.56434	0.798	D	0.95179	0.8297	10	0.59425	D	0.04	-46.6801	13.9448	0.64077	1.0:0.0:0.0:0.0	.	479	O95822	DCMC_HUMAN	R	479	ENSP00000262430:Q479R	ENSP00000262430:Q479R	Q	+	2	0	MLYCD	82506549	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.515000	0.67049	1.962000	0.57031	0.459000	0.35465	CAG		0.557	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		G	83949048	A	G	83949048	3	3	229	1	0	0	0	0	1	0	0	0	9640	188	7	3	1454	3	MLYCD	16	83949048	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	15350549	83949048	6405705	85	13947											
RPH3AL	9501	hgsc.bcm.edu;ucsc.edu	37	17	171101	171102	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:171101_171102insCT	ENST00000331302.7	-	4	489_490	c.182_183insAG	c.(181-183)aggfs	p.R61fs	RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000323434.8_Frame_Shift_Ins_p.R61fs|RP11-1260E13.1_ENST00000572998.1_RNA|RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Frame_Shift_Ins_p.R61fs	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	61	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GCCGCTCTGCCCTCTGGATGAC	0.678																																																0																																										SO:0001589	frameshift_variant	9501				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"Synaptotagmins"	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.181_182dupAG	17.37:g.171104_171105dupCT	ENSP00000328977:p.Arg61fs		D3DTG7|Q9BSB3	Frame_Shift_Ins	INS	ENST00000331302.7	37	CCDS10994.1																																																																																				0.678	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		CT	171102	-	CT	171101	7	5	229	1	0	1	1	0	0	0	0	0	13558	622	22	0	792	0	RPH3AL	17	171101	Frame_Shift_Ins	INS	-	TCGA-B0-5713-01A-11D-1669-08		171101	81024109	86	13948											
EFTUD2	9343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42953390	42953390	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:42953390C>A	ENST00000426333.2	-	10	1078	c.781G>T	c.(781-783)Gac>Tac	p.D261Y	EFTUD2_ENST00000591382.1_Missense_Mutation_p.D261Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.D251Y|EFTUD2_ENST00000402521.3_Missense_Mutation_p.D226Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	261	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.D261Y(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ATCAGCCGGTCAATCTTGTTG	0.502																																					Ovarian(10;65 485 10258 29980 30707)											1	Substitution - Missense(1)	kidney(1)											181	159	166					17																	42953390		2203	4300	6503	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.781G>T	17.37:g.42953390C>A	ENSP00000392094:p.Asp261Tyr		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483914	0.84854	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	D;D	0.95377	-3.69;-3.69	4.96	4.96	0.65561	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	D	0.98931	0.9637	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99157	1.0860	10	0.87932	D	0	-0.249	18.4011	0.90516	0.0:1.0:0.0:0.0	.	251;261	B4DMC0;Q15029	.;U5S1_HUMAN	Y	261;251;226	ENSP00000392094:D261Y;ENSP00000385873:D226Y	ENSP00000262414:D251Y	D	-	1	0	EFTUD2	40308916	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.601000	0.82783	2.589000	0.87451	0.591000	0.81541	GAC		0.502	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		A	42953390	C	A	42953390	3	1	229	1	0	0	0	0	1	0	0	0	4963	826	29	4	2213	4	EFTUD2	17	42953390	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	42782289	42953390	38241820	87	13949											
C17orf46	124783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	43332848	43332848	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:43332848G>T	ENST00000331780.4	-	4	796	c.701C>A	c.(700-702)cCa>cAa	p.P234Q	SPATA32_ENST00000543122.1_Missense_Mutation_p.P213Q|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	234				P -> A (in Ref. 2; AAP97314). {ECO:0000305}.	spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)		p.P234Q(1)									GTCAATGGGTGGCGGGAGATC	0.587																																																1	Substitution - Missense(1)	kidney(1)											83	67	72					17																	43332848		2203	4300	6503	SO:0001583	missense	0			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.701C>A	17.37:g.43332848G>T	ENSP00000331532:p.Pro234Gln		Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851501	0.32699	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.48522	0.81;0.81	3.61	-0.96	0.10340	.	0.697021	0.12623	N	0.452824	T	0.26159	0.0638	L	0.38838	1.175	0.09310	N	1	P	0.41784	0.762	B	0.35353	0.201	T	0.12400	-1.0549	10	0.33141	T	0.24	-7.909	1.0464	0.01570	0.2137:0.1765:0.4287:0.181	.	234	Q96LK8	CQ046_HUMAN	Q	234;213	ENSP00000331532:P234Q;ENSP00000442724:P213Q	ENSP00000331532:P234Q	P	-	2	0	C17orf46	40688631	0.009000	0.17119	0.000000	0.03702	0.044000	0.14063	1.827000	0.39102	-0.100000	0.12241	0.561000	0.74099	CCA		0.587	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		T	43332848	G	T	43332848	3	4	229	1	0	0	0	0	1	0	0	0	1859	1348	47	4	461	4	C17orf46	17	43332848	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	379458	43332848	37862362	88	13950											
CCDC45	90799	broad.mit.edu;hgsc.bcm.edu	37	17	62512942	62512942	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:62512942G>C	ENST00000556440.2	+	5	979	c.469G>C	c.(469-471)Ggg>Cgg	p.G157R	CEP95_ENST00000553412.1_Intron	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	157						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.G157R(2)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AGTTTCTTTTGGGAGGTAGCA	0.343																																																2	Substitution - Missense(2)	kidney(2)											98	93	95					17																	62512942		1830	4078	5908	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.469G>C	17.37:g.62512942G>C	ENSP00000450461:p.Gly157Arg		B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	G	1.211	-0.629729	0.03610	.	.	ENSG00000258890	ENST00000556440	T	0.30182	1.54	4.98	2.97	0.34412	.	1.369710	0.04364	N	0.358008	T	0.26593	0.0650	L	0.44542	1.39	0.80722	D	1	P	0.35383	0.498	B	0.34093	0.175	T	0.10847	-1.0612	10	0.22706	T	0.39	-0.8155	6.4086	0.21678	0.1:0.1855:0.7144:0.0	.	157	Q96GE4	CEP95_HUMAN	R	157	ENSP00000450461:G157R	ENSP00000437744:G157R	G	+	1	0	CEP95	59943404	0.995000	0.38212	0.973000	0.42090	0.020000	0.10135	1.106000	0.31098	0.791000	0.33826	-0.156000	0.13503	GGG		0.343	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		C	62512942	G	C	62512942	3	2	229	1	0	0	0	0	1	0	0	0	2818	1348	47	4	487	4	CCDC45	17	62512942	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	19180094	62512942	18682268	89	13951											
SDK2	54549	broad.mit.edu	37	17	71429919	71429919	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:71429919C>A	ENST00000392650.3	-	10	1264	c.1264G>T	c.(1264-1266)Gca>Tca	p.A422S	SDK2_ENST00000388726.3_Missense_Mutation_p.A422S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	422	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.A422S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCTCACATGCTAGCACCACT	0.572																																																1	Substitution - Missense(1)	kidney(1)											57	44	48					17																	71429919		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1264G>T	17.37:g.71429919C>A	ENSP00000376421:p.Ala422Ser		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.800|4.800	0.148735|0.148735	0.09185|0.09185	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893|ENST00000416616	T;T|.	0.66099|.	-0.19;-0.19|.	4.8|4.8	4.8|4.8	0.61643|0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.341831|.	0.28901|.	N|.	0.013771|.	T|T	0.11495|0.11495	0.0280|0.0280	N|N	0.01424|0.01424	-0.875|-0.875	0.32991|0.32991	D|D	0.525016|0.525016	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.15052|.	0.012;0.012|.	T|T	0.18116|0.18116	-1.0347|-1.0347	10|5	0.13108|.	T|.	0.6|.	.|.	4.2422|4.2422	0.10654|0.10654	0.1624:0.5943:0.157:0.0863|0.1624:0.5943:0.157:0.0863	.|.	422;422|.	Q58EX2-2;Q58EX2|.	.;SDK2_HUMAN|.	S|I	46;422;422;422|326	ENSP00000376421:A422S;ENSP00000373378:A422S|.	ENSP00000324967:A422S|.	A|S	-|-	1|2	0|0	SDK2|SDK2	68941514|68941514	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.964000|0.964000	0.63967|0.63967	2.598000|2.598000	0.46223|0.46223	2.375000|2.375000	0.81037|0.81037	0.462000|0.462000	0.41574|0.41574	GCA|AGC		0.572	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71429919	C	A	71429919	3	1	229	1	0	0	0	0	1	0	0	0	13975	797	28	4	5398	4	SDK2	17	71429919	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	8916977	71429919	9765291	90	13952											
DNAH17	8632	broad.mit.edu;hgsc.bcm.edu	37	17	76535832	76535832	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:76535832T>C	ENST00000585328.1	-	18	2787	c.2663A>G	c.(2662-2664)aAc>aGc	p.N888S	DNAH17_ENST00000389840.5_Missense_Mutation_p.N888S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	888	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N888S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TATAACCATGTTGTCCATTAG	0.348																																																1	Substitution - Missense(1)	kidney(1)											57	56	56					17																	76535832		1849	4087	5936	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2663A>G	17.37:g.76535832T>C	ENSP00000465516:p.Asn888Ser		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	11.01	1.513454	0.27123	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.23147	1.92	4.8	4.8	0.61643	.	.	.	.	.	T	0.40886	0.1135	M	0.66439	2.03	0.40770	D	0.983081	.	.	.	.	.	.	T	0.23691	-1.0181	7	0.31617	T	0.26	.	14.3504	0.66697	0.0:0.0:0.0:1.0	.	.	.	.	S	888	ENSP00000374490:N888S	ENSP00000300671:N888S	N	-	2	0	DNAH17	74047427	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.305000	0.65750	1.795000	0.52594	0.533000	0.62120	AAC		0.348	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		C	76535832	T	C	76535832	3	2	229	1	0	0	0	0	1	0	0	0	4603	1725	60	3	10981	3	DNAH17	17	76535832	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08	5105913	76535832	4659378	91	13953											
SLC26A11	6448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78196524	78196524	+	5'Flank	SNP	T	T	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:78196524T>G	ENST00000326317.6	-	0	0				SLC26A11_ENST00000572725.1_Missense_Mutation_p.L102R|SGSH_ENST00000570923.1_5'Flank|SGSH_ENST00000534910.1_5'Flank|SGSH_ENST00000572208.1_5'Flank|SLC26A11_ENST00000411502.3_Missense_Mutation_p.L102R|SLC26A11_ENST00000361193.3_Missense_Mutation_p.L102R|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000546047.2_Missense_Mutation_p.L102R	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.L102R(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GATGTGACTCTGGGCCCCACC	0.607																																																1	Substitution - Missense(1)	kidney(1)											200	162	175					17																	78196524		2203	4300	6503	SO:0001631	upstream_gene_variant	284129			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196524T>G	Exception_encountered		A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	t	23.8	4.453853	0.84209	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92099	-2.97;-2.97;-2.97	4.52	4.52	0.55395	.	0.233301	0.36234	N	0.002718	D	0.96812	0.8959	M	0.93150	3.385	0.54753	D	0.999983	D	0.89917	1.0	D	0.79108	0.992	D	0.97698	1.0183	10	0.87932	D	0	-11.3387	13.5904	0.61957	0.0:0.0:0.0:1.0	.	102	Q86WA9	S2611_HUMAN	R	102	ENSP00000403998:L102R;ENSP00000440724:L102R;ENSP00000355384:L102R	ENSP00000355384:L102R	L	+	2	0	SLC26A11	75811119	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.725000	0.84808	1.706000	0.51276	0.373000	0.22412	CTG		0.607	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		G	78196524	T	G	78196524	1	3	229	0	1	0	0	0	0	0	0	0	14522	1580	55	5		5	SLC26A11	17	78196524	5'Flank	SNP	T	TCGA-B0-5713-01A-11D-1669-08	1660692	78196524	2998686	92	13954											
KIAA1012	22878	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29511372	29511372	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr18:29511372T>A	ENST00000283351.4	-	2	607	c.272A>T	c.(271-273)gAt>gTt	p.D91V	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D37V|TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.D91V	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	91					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.D91V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAAACAACATCATTCAAAAG	0.408																																																1	Substitution - Missense(1)	kidney(1)											160	156	157					18																	29511372		2203	4300	6503	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.272A>T	18.37:g.29511372T>A	ENSP00000283351:p.Asp91Val		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628068	0.46944	.	.	ENSG00000153339	ENST00000283351	T	0.09350	2.99	5.98	5.98	0.97165	.	0.068910	0.64402	D	0.000009	T	0.18964	0.0455	L	0.46157	1.445	0.80722	D	1	P;P	0.52577	0.954;0.919	P;P	0.50754	0.649;0.536	T	0.00349	-1.1798	10	0.39692	T	0.17	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	91;91	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	V	91	ENSP00000283351:D91V	ENSP00000283351:D91V	D	-	2	0	TRAPPC8	27765370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.922000	0.75811	2.289000	0.77006	0.482000	0.46254	GAT		0.408	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		A	29511372	T	A	29511372	3	1	229	1	0	0	0	0	1	0	0	0	8206	1435	50	5	4147	5	KIAA1012	18	29511372	Missense_Mutation	SNP	T	TCGA-B0-5713-01A-11D-1669-08		29511372	48565876	93	13955											
ATP8B1	5205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	55399034	55399034	+	Silent	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr18:55399034A>G	ENST00000283684.4	-	1	5	c.6T>C	c.(4-6)agT>agC	p.S2S	ATP8B1_ENST00000536015.1_Silent_p.S2S|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	2					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S2S(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTCTTTCTGTACTCATTCTGC	0.423																																																1	Substitution - coding silent(1)	kidney(1)											250	250	250					18																	55399034		2203	4300	6503	SO:0001819	synonymous_variant	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.6T>C	18.37:g.55399034A>G			Q9BTP8	Silent	SNP	ENST00000283684.4	37	CCDS11965.1																																																																																				0.423	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		G	55399034	A	G	55399034	2	3	229	1	0	0	0	0	0	0	0	1	1194	388	14	3		3	ATP8B1	18	55399034	Silent	SNP	A	TCGA-B0-5713-01A-11D-1669-08	25887662	55399034	22678214	94	13956											
TCF3	6929	broad.mit.edu	37	19	1625673	1625673	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:1625673C>T	ENST00000262965.5	-	7	745	c.401G>A	c.(400-402)aGc>aAc	p.S134N	TCF3_ENST00000344749.5_Missense_Mutation_p.S134N|TCF3_ENST00000395423.3_Missense_Mutation_p.S83N|TCF3_ENST00000453954.2_Missense_Mutation_p.S50N|TCF3_ENST00000588136.1_Missense_Mutation_p.S134N	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S134N(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCCGGGGCTGTTGAGGGC	0.672			T	"PBX1, HLF, TFPT"	pre B-ALL																																		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	2	Substitution - Missense(2)	kidney(2)											8	8	8					19																	1625673		2142	4259	6401	SO:0001583	missense	6929			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.401G>A	19.37:g.1625673C>T	ENSP00000262965:p.Ser134Asn		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387409	0.42308	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.72835	-0.69;-0.69;-0.69	4.4	4.4	0.53042	.	0.104953	0.64402	D	0.000005	T	0.80347	0.4606	M	0.62088	1.915	0.47905	D	0.999541	D;D;B	0.76494	0.999;0.993;0.326	D;D;B	0.85130	0.997;0.968;0.113	T	0.78173	-0.2307	10	0.28530	T	0.3	-5.384	13.6992	0.62597	0.0:1.0:0.0:0.0	.	134;134;83	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	N	134;134;134;83	ENSP00000262965:S134N;ENSP00000344375:S134N;ENSP00000378813:S83N	ENSP00000262965:S134N	S	-	2	0	TCF3	1576673	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	1.735000	0.38176	1.976000	0.57569	0.561000	0.74099	AGC		0.672	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		T	1625673	C	T	1625673	3	4	229	1	0	0	0	0	1	0	0	0	15699	797	28	2	1846	2	TCF3	19	1625673	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08		1625673	57503310	95	13957											
ZFR2	23217	broad.mit.edu	37	19	3831667	3831667	+	Missense_Mutation	SNP	C	C	T	rs200980853		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:3831667C>T	ENST00000262961.4	-	4	599	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	197	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A197T(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCCGTGTAGGCGGTGCAGGTG	0.627																																																1	Substitution - Missense(1)	kidney(1)						C	THR/ALA	0,4114		0,0,2057	17	19	18		589	-2.2	0	19		18	2,8378		0,2,4188	yes	missense	ZFR2	NM_015174.1	58	0,2,6245	TT,TC,CC		0.0239,0.0,0.016	benign	197/940	3831667	2,12492	2057	4190	6247	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.589G>A	19.37:g.3831667C>T	ENSP00000262961:p.Ala197Thr			Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183484	0.01620	0.0	2.39E-4	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.12672	3.39;2.66	3.18	-2.2	0.06994	.	1.444590	0.05194	U	0.503682	T	0.04679	0.0127	N	0.05078	-0.115	0.09310	N	1	B	0.18610	0.029	B	0.06405	0.002	T	0.33369	-0.9871	10	0.05620	T	0.96	0.1176	3.4887	0.07629	0.4221:0.2123:0.3656:0.0	.	197	Q9UPR6	ZFR2_HUMAN	T	197	ENSP00000262961:A197T;ENSP00000388974:A197T	ENSP00000262961:A197T	A	-	1	0	ZFR2	3782667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.092000	0.11129	-0.179000	0.10654	-0.280000	0.10049	GCC		0.627	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		T	3831667	C	T	3831667	3	4	229	1	0	0	0	0	1	0	0	0	17665	768	27	1	2294	1	ZFR2	19	3831667	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	2205994	3831667	55297316	96	13958											
PNPLA6	10908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7614966	7614966	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:7614966C>T	ENST00000221249.6	+	17	2096	c.1665C>T	c.(1663-1665)acC>acT	p.T555T	PNPLA6_ENST00000600737.1_Silent_p.T594T|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000414982.3_Silent_p.T603T|PNPLA6_ENST00000545201.2_Silent_p.T529T|PNPLA6_ENST00000450331.3_Silent_p.T555T	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	594					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.T555T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGACTGCACCTTCCTGCGGA	0.622																																																1	Substitution - coding silent(1)	kidney(1)											104	99	101					19																	7614966		2203	4300	6503	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1665C>T	19.37:g.7614966C>T			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.622	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		T	7614966	C	T	7614966	2	4	229	1	0	0	0	0	0	0	0	1	12171	668	24	2		2	PNPLA6	19	7614966	Silent	SNP	C	TCGA-B0-5713-01A-11D-1669-08	3783299	7614966	51514017	97	13959											
ANGPTL6	83854	broad.mit.edu;hgsc.bcm.edu	37	19	10206762	10206762	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:10206762G>C	ENST00000253109.4	-	2	716	c.478C>G	c.(478-480)Ctg>Gtg	p.L160V	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.L160V|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.L160V	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	160					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)		p.L160V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			TTGACGTCCAGCTGGTGGAAC	0.751																																																1	Substitution - Missense(1)	kidney(1)											8	9	8					19																	10206762		1868	3635	5503	SO:0001583	missense	83854			AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"Fibrinogen C domain containing"	23140	protein-coding gene	gene with protein product	"angiopoietin-related protein 5"	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.478C>G	19.37:g.10206762G>C	ENSP00000253109:p.Leu160Val		A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285247	0.80803	.	.	ENSG00000130812	ENST00000253109	T	0.68479	-0.33	4.26	1.63	0.23807	.	0.317119	0.25391	N	0.031013	T	0.72653	0.3487	L	0.46819	1.47	0.49389	D	0.99978	D	0.76494	0.999	D	0.78314	0.991	T	0.72443	-0.4292	10	0.62326	D	0.03	.	9.8642	0.41134	0.2187:0.0:0.7813:0.0	.	160	Q8NI99	ANGL6_HUMAN	V	160	ENSP00000253109:L160V	ENSP00000253109:L160V	L	-	1	2	ANGPTL6	10067762	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.974000	0.40559	0.821000	0.34540	0.455000	0.32223	CTG		0.751	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		C	10206762	G	C	10206762	3	2	229	1	0	0	0	0	1	0	0	0	618	962	34	4	954	4	ANGPTL6	19	10206762	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08	2591796	10206762	48922221	98	13960											
KLK6	5653	broad.mit.edu	37	19	51462529	51462529	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:51462529C>T	ENST00000376851.3	-	6	1065	c.626G>A	c.(625-627)gGc>gAc	p.G209D	KLK6_ENST00000310157.2_Missense_Mutation_p.G209D|CTB-147C22.8_ENST00000594939.1_RNA|KLK6_ENST00000391808.1_Missense_Mutation_p.G102D|KLK6_ENST00000376853.4_Missense_Mutation_p.A81T|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000456750.2_Missense_Mutation_p.G102D|KLK6_ENST00000594641.1_Missense_Mutation_p.G209D	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.G209D(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TGACACAAGGCCTCGGAGGTG	0.517																																																1	Substitution - Missense(1)	kidney(1)											240	219	226					19																	51462529		2203	4300	6503	SO:0001583	missense	5653			U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.626G>A	19.37:g.51462529C>T	ENSP00000366047:p.Gly209Asp		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	CCDS12811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	14.93|14.93	2.683170|2.683170	0.47991|0.47991	.|.	.|.	ENSG00000167755|ENSG00000167755	ENST00000376853|ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D|D;D;D;D	0.82526|0.99545	-1.62|-6.13;-6.13;-6.13;-6.13	3.89|3.89	3.89|3.89	0.44902|0.44902	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|.	.|.	.|.	.|.	D|D	0.99785|0.99785	0.9910|0.9910	H|H	0.98426|0.98426	4.23|4.23	0.80722|0.80722	D|D	1|1	P|D;D	0.42078|0.89917	0.77|1.0;1.0	B|D;D	0.42087|0.97110	0.375|1.0;1.0	D|D	0.96753|0.96753	0.9555|0.9555	9|9	0.59425|0.87932	D|D	0.04|0	.|.	13.7773|13.7773	0.63062|0.63062	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	81|209;102	E7ETY0|Q92876;Q92876-2	.|KLK6_HUMAN;.	T|D	81|209;209;102;102	ENSP00000366049:A81T|ENSP00000309148:G209D;ENSP00000366047:G209D;ENSP00000375684:G102D;ENSP00000409241:G102D	ENSP00000366049:A81T|ENSP00000309148:G209D	A|G	-|-	1|2	0|0	KLK6|KLK6	56154341|56154341	1.000000|1.000000	0.71417|0.71417	0.067000|0.067000	0.19924|0.19924	0.008000|0.008000	0.06430|0.06430	5.082000|5.082000	0.64450|0.64450	2.156000|2.156000	0.67533|0.67533	0.645000|0.645000	0.84053|0.84053	GCC|GGC		0.517	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		T	51462529	C	T	51462529	3	4	229	1	0	0	0	0	1	0	0	0	8410	739	26	2	112	2	KLK6	19	51462529	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	41255767	51462529	7666454	99	13961											
ZNF761	388561	hgsc.bcm.edu	37	19	53958187	53958187	+	RNA	DEL	A	A	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:53958187delA	ENST00000454407.1	+	0	879							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGCTTGGATCAAGCTTTCATT	0.378																																																0													112	112	112					19																	53958187		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958187delA			Q6ZNB9	Frame_Shift_Del	DEL	ENST00000454407.1	37																																																																																					0.378	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		-	53958187	A	-	53958187	6	5	229	0	1	1	0	1	0	0	0	0	18141	117	5	0		0	ZNF761	19	53958187	RNA	DEL	A	TCGA-B0-5713-01A-11D-1669-08	2495658	53958187	5170796	100	13962											
SNRPB	6628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2442418	2442418	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr20:2442418C>T	ENST00000438552.2	-	7	869	c.707G>A	c.(706-708)cGc>cAc	p.R236H	SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000381342.2_3'UTR	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	236	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.R236H(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTTGGTGGGCGCATTCCCGG	0.542																																																1	Substitution - Missense(1)	kidney(1)											47	51	50					20																	2442418		2203	4300	6503	SO:0001583	missense	6628				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.707G>A	20.37:g.2442418C>T	ENSP00000412566:p.Arg236His		Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892568	0.33442	.	.	ENSG00000125835	ENST00000438552;ENST00000303103	T	0.44881	0.91	4.7	1.51	0.23008	.	0.298090	0.36338	N	0.002646	T	0.26195	0.0639	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06534	-1.0821	10	0.87932	D	0	.	7.9054	0.29759	0.0:0.7006:0.0:0.2994	.	236	P14678	RSMB_HUMAN	H	236;284	ENSP00000412566:R236H	ENSP00000303591:R284H	R	-	2	0	SNRPB	2390418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.285000	0.33261	0.234000	0.21139	0.561000	0.74099	CGC		0.542	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			T	2442418	C	T	2442418	3	4	229	1	0	0	0	0	1	0	0	0	14867	768	27	1	19	1	SNRPB	20	2442418	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08		2442418	60583102	101	13963											
PRNP	5621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	4680528	4680528	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr20:4680528A>G	ENST00000379440.4	+	2	949	c.662A>G	c.(661-663)gAa>gGa	p.E221G	PRNP_ENST00000430350.2_Missense_Mutation_p.E221G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.E221G(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TACGAGAGGGAATCTCAGGCC	0.527																																																1	Substitution - Missense(1)	kidney(1)											129	111	117					20																	4680528		2203	4300	6503	SO:0001583	missense	5621			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.662A>G	20.37:g.4680528A>G	ENSP00000368752:p.Glu221Gly			Missense_Mutation	SNP	ENST00000379440.4	37	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	A	7.376	0.627737	0.14257	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805	D;D;D	0.89343	-2.5;-2.5;-2.5	5.1	2.71	0.32032	Prion/Doppel protein, beta-ribbon domain (3);	0.366113	0.23007	N	0.053006	D	0.92028	0.7474	M	0.68317	2.08	0.09310	N	1	D;D	0.65815	0.981;0.995	P;D	0.68353	0.819;0.957	D	0.84419	0.0570	10	0.87932	D	0	-4.3625	8.9812	0.35966	0.6325:0.3675:0.0:0.0	.	221;253	P04156;O75942	PRIO_HUMAN;.	G	221;221;221;160	ENSP00000368752:E221G;ENSP00000399376:E221G;ENSP00000411599:E221G	ENSP00000368752:E221G	E	+	2	0	PRNP	4628528	0.440000	0.25618	0.002000	0.10522	0.040000	0.13550	2.315000	0.43752	0.356000	0.24157	0.533000	0.62120	GAA		0.527	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		G	4680528	A	G	4680528	3	3	229	1	0	0	0	0	1	0	0	0	12549	246	9	3	664	3	PRNP	20	4680528	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	2238110	4680528	58344992	102	13964											
EP300	2033	broad.mit.edu;hgsc.bcm.edu	37	22	41513594	41513594	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr22:41513594C>A	ENST00000263253.7	+	2	1717	c.498C>A	c.(496-498)aaC>aaA	p.N166K		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	166					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.N166K(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGGAATGAACACAGGGATGA	0.507			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	1	Substitution - Missense(1)	kidney(1)											101	84	90					22																	41513594		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.498C>A	22.37:g.41513594C>A	ENSP00000263253:p.Asn166Lys		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.793045	0.31685	.	.	ENSG00000100393	ENST00000263253	D	0.83163	-1.69	6.17	6.17	0.99709	.	0.000000	0.52532	D	0.000064	D	0.85371	0.5681	M	0.63843	1.955	0.39998	D	0.975139	P	0.47302	0.893	P	0.52066	0.689	T	0.81344	-0.0975	10	0.16896	T	0.51	-9.8786	14.9567	0.71120	0.0:0.9326:0.0:0.0674	.	166	Q09472	EP300_HUMAN	K	166	ENSP00000263253:N166K	ENSP00000263253:N166K	N	+	3	2	EP300	39843540	0.939000	0.31865	1.000000	0.80357	0.994000	0.84299	1.152000	0.31663	2.941000	0.99782	0.655000	0.94253	AAC		0.507	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		A	41513594	C	A	41513594	3	1	229	1	0	0	0	0	1	0	0	0	5150	477	17	4	504	4	EP300	22	41513594	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08		41513594	9790972	103	13965											
MAGEB10	139422	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	27840420	27840420	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chrX:27840420G>A	ENST00000356790.2	+	3	1242	c.997G>A	c.(997-999)Ggt>Agt	p.G333S		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	333								p.G333S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TGCCACAGCCGGTGCACGTTC	0.483																																																1	Substitution - Missense(1)	kidney(1)											33	28	29					X																	27840420		2201	4295	6496	SO:0001583	missense	139422				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.997G>A	X.37:g.27840420G>A	ENSP00000368304:p.Gly333Ser		Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.385230	0.01194	.	.	ENSG00000177689	ENST00000356790	T	0.01527	4.8	2.5	-1.47	0.08772	.	.	.	.	.	T	0.00580	0.0019	N	0.01168	-0.975	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45116	-0.9283	9	0.02654	T	1	.	2.8991	0.05700	0.4147:0.2522:0.3331:0.0	.	333	Q96LZ2	MAGBA_HUMAN	S	333	ENSP00000368304:G333S	ENSP00000368304:G333S	G	+	1	0	MAGEB10	27750341	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.560000	0.05964	-0.458000	0.07023	-1.404000	0.01136	GGT		0.483	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		A	27840420	G	A	27840420	3	1	229	1	0	0	0	0	1	0	0	0	9175	1116	39	1	999	1	MAGEB10	23	27840420	Missense_Mutation	SNP	G	TCGA-B0-5713-01A-11D-1669-08		27840420	127430140	104	13966											
GPKOW	27238	broad.mit.edu;ucsc.edu	37	X	48979947	48979947	+	Silent	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chrX:48979947A>T	ENST00000156109.5	-	1	204	c.126T>A	c.(124-126)tcT>tcA	p.S42S		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	42						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.S42S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						TCTCCTCCGGAGATGGCCCCG	0.637																																																1	Substitution - coding silent(1)	kidney(1)											21	21	21					X																	48979947		2201	4298	6499	SO:0001819	synonymous_variant	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.126T>A	X.37:g.48979947A>T			Q59EK5|Q9BQA8	Silent	SNP	ENST00000156109.5	37	CCDS35251.1																																																																																				0.637	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		T	48979947	A	T	48979947	2	4	229	1	0	0	0	0	0	0	0	1	6615	291	11	5		5	GPKOW	23	48979947	Silent	SNP	A	TCGA-B0-5713-01A-11D-1669-08	21139527	48979947	106290613	105	13967											
ATRX	546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	76939124	76939124	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chrX:76939124C>G	ENST00000373344.5	-	9	1838	c.1624G>C	c.(1624-1626)Gtt>Ctt	p.V542L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.V504L	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	542					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.V542L(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGATGATCAACTGAACTCTGA	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - Missense(2)|Unknown(1)	kidney(2)|bone(1)											170	178	176					X																	76939124		2203	4294	6497	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1624G>C	X.37:g.76939124C>G	ENSP00000362441:p.Val542Leu		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	1.467	-0.560940	0.03939	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91295	-2.81;-2.82	5.21	0.811	0.18739	.	0.380247	0.24608	U	0.037065	T	0.74442	0.3717	N	0.03608	-0.345	0.40399	D	0.979622	B;B;B;B	0.11235	0.002;0.001;0.004;0.002	B;B;B;B	0.13407	0.002;0.002;0.009;0.002	T	0.59925	-0.7362	10	0.35671	T	0.21	-0.5405	6.3501	0.21370	0.3201:0.5107:0.0:0.1692	.	542;503;504;542	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	L	542;504;498	ENSP00000362441:V542L;ENSP00000378967:V504L	ENSP00000362441:V542L	V	-	1	0	ATRX	76825780	0.000000	0.05858	0.449000	0.26957	0.695000	0.40330	-0.701000	0.05075	0.084000	0.17077	0.496000	0.49642	GTT		0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		G	76939124	C	G	76939124	3	3	229	1	0	0	0	0	1	0	0	0	1208	565	20	4	5962	4	ATRX	23	76939124	Missense_Mutation	SNP	C	TCGA-B0-5713-01A-11D-1669-08	27959177	76939124	78331436	106	13968											
ATP11C	286410	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	138827926	138827926	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chrX:138827926C>T	ENST00000327569.3	-	25	3026	c.2928G>A	c.(2926-2928)ggG>ggA	p.G976G	ATP11C_ENST00000370543.1_Silent_p.G976G|ATP11C_ENST00000359686.2_Silent_p.G976G|ATP11C_ENST00000361648.2_Silent_p.G976G|ATP11C_ENST00000370557.1_Silent_p.G970G|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	976					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G976G(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GAAAGTAAGTCCCAAAGAAGA	0.388																																																2	Substitution - coding silent(2)	kidney(2)											91	81	84					X																	138827926		2203	4300	6503	SO:0001819	synonymous_variant	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2928G>A	X.37:g.138827926C>T			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	9.512	1.105883	0.20632	.	.	ENSG00000101974	ENST00000433868	.	.	.	5.97	5.04	0.67666	.	.	.	.	.	T	0.71576	0.3356	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70483	-0.4859	4	.	.	.	.	15.8522	0.78940	0.1452:0.8548:0.0:0.0	.	.	.	.	N	9	.	.	D	-	1	0	ATP11C	138655592	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.597000	0.24059	2.527000	0.85204	0.600000	0.82982	GAC		0.388	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		T	138827926	C	T	138827926	2	4	229	1	0	0	0	0	0	0	0	1	1121	842	30	2		2	ATP11C	23	138827926	Silent	SNP	C	TCGA-B0-5713-01A-11D-1669-08	61888802	138827926	16442634	107	13969											
ZNF185	7739	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	152132417	152132417	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chrX:152132417A>T	ENST00000370268.4	+	18	1676	c.1639A>T	c.(1639-1641)Act>Tct	p.T547S	ZNF185_ENST00000324823.6_Missense_Mutation_p.T315S|ZNF185_ENST00000535861.1_Missense_Mutation_p.T579S|ZNF185_ENST00000539731.1_Missense_Mutation_p.T550S|ZNF185_ENST00000454925.1_Missense_Mutation_p.T185S|ZNF185_ENST00000318529.8_Missense_Mutation_p.T326S|ZNF185_ENST00000318504.7_Missense_Mutation_p.T488S|ZNF185_ENST00000449285.2_Missense_Mutation_p.T548S|ZNF185_ENST00000370270.2_Missense_Mutation_p.T579S			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	547						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.T579S(1)|p.T310S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCACTGTTACTGTCACTGC	0.537																																																2	Substitution - Missense(2)	kidney(2)											93	89	90					X																	152132417		2072	4179	6251	SO:0001583	missense	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1639A>T	X.37:g.152132417A>T	ENSP00000359291:p.Thr547Ser		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	CCDS48184.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	9.666|9.666|9.666	1.145355|1.145355|1.145355	0.21288|0.21288|0.21288	.|.|.	.|.|.	ENSG00000147394|ENSG00000147394|ENSG00000147394	ENST00000454925|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000370268;ENST00000318529;ENST00000370270|ENST00000426821	.|T;T;T;T;T|.	.|0.51071|.	.|0.74;0.72;0.75;0.74;0.75|.	3.66|3.66|3.66	2.46|2.46|2.46	0.29980|0.29980|0.29980	.|.|.	.|0.119972|.	.|0.36972|.	.|N|.	.|0.002301|.	T|T|T	0.42314|0.42314|0.42314	0.1197|0.1197|0.1197	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;D;B;B;B;B;D;B|.	.|0.56035|.	.|0.161;0.161;0.974;0.433;0.169;0.138;0.244;0.965;0.161|.	.|B;B;P;B;B;B;B;P;B|.	.|0.51487|.	.|0.075;0.075;0.671;0.172;0.075;0.055;0.061;0.555;0.075|.	T|T|T	0.29027|0.29027|0.29027	-1.0025|-1.0025|-1.0025	5|10|5	.|0.66056|.	.|D|.	.|0.02|.	-9.6154|-9.6154|-9.6154	6.263|6.263|6.263	0.20912|0.20912|0.20912	0.745:0.255:0.0:0.0|0.745:0.255:0.0:0.0|0.745:0.255:0.0:0.0	.|.|.	.|548;488;518;550;579;547;185;326;310|.	.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2|.	.|.;.;.;.;.;ZN185_HUMAN;.;.;.|.	F|S|F	187|579;550;548;488;382;315;547;326;310|332	.|ENSP00000440847:T579S;ENSP00000444367:T550S;ENSP00000395228:T548S;ENSP00000312782:T488S;ENSP00000359291:T547S|.	.|ENSP00000312782:T488S|.	L|T|Y	+|+|+	3|1|2	2|0|0	ZNF185|ZNF185|ZNF185	151883073|151883073|151883073	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.005000|0.005000|0.005000	0.12908|0.12908|0.12908	0.029000|0.029000|0.029000	0.11900|0.11900|0.11900	0.009000|0.009000|0.009000	0.13219|0.13219|0.13219	0.575000|0.575000|0.575000	0.29434|0.29434|0.29434	0.417000|0.417000|0.417000	0.27973|0.27973|0.27973	TTA|ACT|TAC		0.537	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		T	152132417	A	T	152132417	3	4	229	1	0	0	0	0	1	0	0	0	17757	391	14	5	1953	5	ZNF185	23	152132417	Missense_Mutation	SNP	A	TCGA-B0-5713-01A-11D-1669-08	13304491	152132417	3138143	108	13970											
UBE4B	10277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10163061	10163061	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr1:10163061A>C	ENST00000253251.8	+	5	1330	c.491A>C	c.(490-492)aAg>aCg	p.K164T	UBE4B_ENST00000377157.3_Missense_Mutation_p.K48T|UBE4B_ENST00000343090.6_Missense_Mutation_p.K164T					ubiquitination factor E4B									p.K164T(2)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTGGTCTGTAAGATCTTCCGT	0.453																																																2	Substitution - Missense(2)	kidney(2)											106	99	102					1																	10163061		2203	4300	6503	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.491A>C	1.37:g.10163061A>C	ENSP00000253251:p.Lys164Thr			Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767817	0.69878	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.60299	0.35;0.42;0.2	5.98	5.98	0.97165	.	0.045001	0.85682	D	0.000000	T	0.53286	0.1787	L	0.39898	1.24	0.38877	D	0.956826	P;P	0.52316	0.952;0.59	B;B	0.42798	0.398;0.282	T	0.61850	-0.6978	10	0.72032	D	0.01	-29.8708	16.4781	0.84144	1.0:0.0:0.0:0.0	.	164;164	O95155;O95155-2	UBE4B_HUMAN;.	T	164;48;164	ENSP00000253251:K164T;ENSP00000366362:K48T;ENSP00000343001:K164T	ENSP00000253251:K164T	K	+	2	0	UBE4B	10085648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.957000	0.70323	2.288000	0.76882	0.528000	0.53228	AAG		0.453	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		C	10163061	A	C	10163061	3	2	230	1	0	0	0	0	1	0	0	0	16888	72	3	5	509	5	UBE4B	1	10163061	Missense_Mutation	SNP	A	TCGA-B0-5812-01A-11D-1669-08		10163061	239087560	1	13971											
NUP133	55746	broad.mit.edu;hgsc.bcm.edu	37	1	229643913	229643913	+	Silent	SNP	C	C	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr1:229643913C>G	ENST00000261396.3	-	1	175	c.84G>C	c.(82-84)acG>acC	p.T28T	NUP133_ENST00000537506.1_Silent_p.T12T|NUP133_ENST00000366678.3_Silent_p.T28T|RP4-613A2.1_ENST00000417605.1_RNA	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	28					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.T28T(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CCGTCCGGGGCGTGGAGCCGG	0.726																																																1	Substitution - coding silent(1)	kidney(1)											7	9	8					1																	229643913		2154	4227	6381	SO:0001819	synonymous_variant	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.84G>C	1.37:g.229643913C>G			B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	CCDS1579.1																																																																																				0.726	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		G	229643913	C	G	229643913	2	3	230	1	0	0	0	0	0	0	0	1	10756	755	27	4		4	NUP133	1	229643913	Silent	SNP	C	TCGA-B0-5812-01A-11D-1669-08	219480852	229643913	19606708	2	13972											
VWA3B	200403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	98804531	98804531	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr2:98804531A>G	ENST00000477737.1	+	10	1609	c.1405A>G	c.(1405-1407)Aaa>Gaa	p.K469E	VWA3B_ENST00000435344.1_Missense_Mutation_p.K469E|VWA3B_ENST00000451075.2_Missense_Mutation_p.K319E	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	469								p.K469E(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAACATTACCAAAGAGAAGTG	0.502																																																1	Substitution - Missense(1)	kidney(1)											124	127	126					2																	98804531		1986	4160	6146	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1405A>G	2.37:g.98804531A>G	ENSP00000417955:p.Lys469Glu		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	A	0.711	-0.787253	0.02907	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.21734	1.99;3.42;2.52	4.76	3.42	0.39159	.	0.247257	0.28465	N	0.015255	T	0.13500	0.0327	L	0.56769	1.78	0.20489	N	0.999894	B;P;B	0.50156	0.158;0.932;0.291	B;B;B	0.35931	0.046;0.214;0.143	T	0.13548	-1.0505	10	0.11182	T	0.66	.	5.8083	0.18452	0.7947:0.0:0.2053:0.0	.	319;469;469	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	E	469;469;319	ENSP00000401959:K469E;ENSP00000417955:K469E;ENSP00000389463:K319E	ENSP00000388158:K469E	K	+	1	0	VWA3B	98170963	0.989000	0.36119	1.000000	0.80357	0.217000	0.24651	1.514000	0.35834	1.892000	0.54788	0.377000	0.23210	AAA		0.502	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		G	98804531	A	G	98804531	3	3	230	1	0	0	0	0	1	0	0	0	17246	131	5	3	1439	3	VWA3B	2	98804531	Missense_Mutation	SNP	A	TCGA-B0-5812-01A-11D-1669-08		98804531	144394842	3	13973											
NCKAP5	344148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	133539879	133539879	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr2:133539879G>T	ENST00000409261.1	-	14	4878	c.4505C>A	c.(4504-4506)cCt>cAt	p.P1502H	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1502H|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1502								p.P1502H(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGAAGGCCCAGGCTTCTGCTT	0.458																																																1	Substitution - Missense(1)	kidney(1)											70	70	70					2																	133539879		1849	4088	5937	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4505C>A	2.37:g.133539879G>T	ENSP00000387128:p.Pro1502His		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469389	0.43839	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09817	2.94;2.94	5.55	4.66	0.58398	.	0.459267	0.15501	U	0.259033	T	0.12603	0.0306	N	0.24115	0.695	0.80722	D	1	P	0.47484	0.896	P	0.48815	0.591	T	0.02104	-1.1213	10	0.56958	D	0.05	.	13.3151	0.60403	0.0743:0.0:0.9257:0.0	.	1502	O14513	NCKP5_HUMAN	H	1502	ENSP00000387128:P1502H;ENSP00000380603:P1502H	ENSP00000380603:P1502H	P	-	2	0	NCKAP5	133256349	1.000000	0.71417	0.133000	0.22050	0.532000	0.34746	6.539000	0.73856	2.894000	0.99253	0.591000	0.81541	CCT		0.458	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		T	133539879	G	T	133539879	3	4	230	1	0	0	0	0	1	0	0	0	10225	1000	35	4	1252	4	NCKAP5	2	133539879	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08	34735348	133539879	109659494	4	13974											
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141812722	141812722	+	Silent	SNP	A	A	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr2:141812722A>T	ENST00000389484.3	-	10	2486	c.1515T>A	c.(1513-1515)acT>acA	p.T505T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	505	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T505T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTGAAGCCAGTCCTGCAGC	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - coding silent(1)	kidney(1)											114	98	104					2																	141812722		2203	4300	6503	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1515T>A	2.37:g.141812722A>T			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141812722	A	T	141812722	2	4	230	1	0	0	0	0	0	0	0	1	8957	175	7	5		5	LRP1B	2	141812722	Silent	SNP	A	TCGA-B0-5812-01A-11D-1669-08	8272843	141812722	101386651	5	13975											
ALPP	250	broad.mit.edu;hgsc.bcm.edu	37	2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T	rs201259070		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr2:233245025C>T	ENST00000392027.2	+	6	1056	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	263			R -> H (in dbSNP:rs2853378). {ECO:0000269|PubMed:3461452}.		dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.R263C(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667																																																1	Substitution - Missense(1)	kidney(1)											73	75	74					2																	233245025		2203	4300	6503	SO:0001583	missense	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.787C>T	2.37:g.233245025C>T	ENSP00000375881:p.Arg263Cys		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	9.825	1.186738	0.21870	.	.	ENSG00000163283	ENST00000392027	D	0.96802	-4.13	2.31	0.0197	0.14122	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.003840	0.08014	N	0.990937	D	0.96065	0.8718	M	0.79258	2.445	0.09310	N	1	D	0.76494	0.999	P	0.52672	0.706	D	0.88532	0.3103	10	0.51188	T	0.08	.	3.4481	0.07487	0.3001:0.4479:0.0:0.252	.	263	P05187	PPB1_HUMAN	C	263	ENSP00000375881:R263C	ENSP00000375881:R263C	R	+	1	0	ALPP	232953269	0.000000	0.05858	0.953000	0.39169	0.172000	0.22775	-0.022000	0.12480	0.295000	0.22570	0.298000	0.19748	CGC		0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		T	233245025	C	T	233245025	3	4	230	1	0	0	0	0	1	0	0	0	548	768	27	1	809	1	ALPP	2	233245025	Missense_Mutation	SNP	C	TCGA-B0-5812-01A-11D-1669-08	91432303	233245025	9954348	6	13976											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188290	10188290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr3:10188290C>T	ENST00000256474.2	+	2	1273	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	145	Involved in binding to CCT complex.		Q -> H (in VHLD).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q145*(2)|p.Q145fs*12(1)|p.G144fs*14(1)|p.S139fs*12(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGTTGACGGACAGCCTATTTT	0.418		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	6	Deletion - Frameshift(4)|Substitution - Nonsense(2)	kidney(6)	GRCh37	CM994243	VHL	M							217	201	206					3																	10188290		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.433C>T	3.37:g.10188290C>T	ENSP00000256474:p.Gln145*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	43	10.345298	0.99388	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	5.07	5.07	0.68467	.	0.262110	0.33591	N	0.004751	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-29.4808	16.3181	0.82935	0.0:1.0:0.0:0.0	.	.	.	.	X	145;63	.	ENSP00000256474:Q145X	Q	+	1	0	VHL	10163290	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.592000	0.36676	2.530000	0.85305	0.563000	0.77884	CAG		0.418	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188290	C	T	10188290	4	4	230	1	0	0	0	0	0	1	0	0	17167	479	17	2	439	2	VHL	3	10188290	Nonsense_Mutation	SNP	C	TCGA-B0-5812-01A-11D-1669-08		10188290	187834140	7	13977											
NLGN1	22871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	173998403	173998403	+	Silent	SNP	T	T	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr3:173998403T>G	ENST00000457714.1	+	7	2211	c.1782T>G	c.(1780-1782)gtT>gtG	p.V594V	NLGN1_ENST00000545397.1_Silent_p.V594V|NLGN1_ENST00000401917.3_Silent_p.V634V|NLGN1_ENST00000361589.4_Silent_p.V594V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	611					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.V594V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AACCAAGAGTTAAAGAACATT	0.378																																																1	Substitution - coding silent(1)	kidney(1)											108	106	106					3																	173998403		2203	4300	6503	SO:0001819	synonymous_variant	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1782T>G	3.37:g.173998403T>G			Q9UPT2	Silent	SNP	ENST00000457714.1	37	CCDS3222.1																																																																																				0.378	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		G	173998403	T	G	173998403	2	3	230	1	0	0	0	0	0	0	0	1	10463	1741	61	5		5	NLGN1	3	173998403	Silent	SNP	T	TCGA-B0-5812-01A-11D-1669-08	163810113	173998403	24024027	8	13978											
MCF2L2	23101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	182897463	182897463	+	Silent	SNP	C	C	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr3:182897463C>T	ENST00000328913.3	-	29	3420	c.3123G>A	c.(3121-3123)caG>caA	p.Q1041Q	MCF2L2_ENST00000468976.1_5'Flank|MCF2L2_ENST00000473233.1_Silent_p.Q1041Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1041							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1041Q(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGTCGTCCGACTGGAAAAGGC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											77	85	83					3																	182897463		2203	4300	6503	SO:0001819	synonymous_variant	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.3123G>A	3.37:g.182897463C>T			O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	CCDS3243.1																																																																																				0.592	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		T	182897463	C	T	182897463	2	4	230	1	0	0	0	0	0	0	0	1	9382	564	20	2		2	MCF2L2	3	182897463	Silent	SNP	C	TCGA-B0-5812-01A-11D-1669-08	8899060	182897463	15124967	9	13979											
FIP1L1	81608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	54265975	54265975	+	Missense_Mutation	SNP	T	T	C	rs587778363		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr4:54265975T>C	ENST00000337488.6	+	10	978	c.784T>C	c.(784-786)Tct>Cct	p.S262P	FIP1L1_ENST00000306932.6_Missense_Mutation_p.S224P|FIP1L1_ENST00000507922.1_Missense_Mutation_p.S247P|FIP1L1_ENST00000507166.1_Missense_Mutation_p.S262P|FIP1L1_ENST00000358575.5_Missense_Mutation_p.S247P	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	262	Necessary for stimulating PAPOLA activity.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S262P(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTCTCCTCCTTCTTTGTTCAA	0.373			T	PDGFRA	idiopathic hypereosinophilic syndrome																																		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	1	Substitution - Missense(1)	kidney(1)											155	151	152					4																	54265975		2203	4300	6503	SO:0001583	missense	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.784T>C	4.37:g.54265975T>C	ENSP00000336752:p.Ser262Pro		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.155453	0.38021	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.38	5.38	0.77491	.	0.078525	0.53938	D	0.000043	T	0.38295	0.1035	L	0.34521	1.04	0.46901	D	0.999242	B;B;B;B;B;B	0.18741	0.005;0.03;0.003;0.001;0.005;0.016	B;B;B;B;B;B	0.21151	0.009;0.03;0.004;0.003;0.006;0.033	T	0.25187	-1.0139	10	0.26408	T	0.33	-21.4918	7.4863	0.27435	0.0:0.0766:0.1555:0.7679	.	247;66;247;224;262;247	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	P	262;247;247;224;262	ENSP00000336752:S262P;ENSP00000351383:S247P;ENSP00000425456:S247P;ENSP00000302993:S224P;ENSP00000423325:S262P	ENSP00000302993:S224P	S	+	1	0	FIP1L1	53960732	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	2.668000	0.46816	2.168000	0.68352	0.533000	0.62120	TCT		0.373	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		C	54265975	T	C	54265975	3	2	230	1	0	0	0	0	1	0	0	0	5898	1783	62	3	822	3	FIP1L1	4	54265975	Missense_Mutation	SNP	T	TCGA-B0-5812-01A-11D-1669-08		54265975	136888301	10	13980											
C5orf42	65250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37120329	37120329	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr5:37120329G>C	ENST00000508244.1	-	48	9230	c.9137C>G	c.(9136-9138)cCt>cGt	p.P3046R	C5orf42_ENST00000425232.2_Missense_Mutation_p.P3046R|C5orf42_ENST00000274258.7_Missense_Mutation_p.P1944R|C5orf42_ENST00000512288.1_5'Flank			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3046						integral component of membrane (GO:0016021)		p.P3046R(1)|p.P1944R(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATGTGGCCAAGGTGAGCCTTG	0.363																																																2	Substitution - Missense(2)	kidney(2)											113	110	111					5																	37120329		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9137C>G	5.37:g.37120329G>C	ENSP00000421690:p.Pro3046Arg		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546080	0.86022	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.25	0.216	0.15258	.	0.829819	0.10572	N	0.659003	T	0.52306	0.1726	L	0.56769	1.78	0.09310	N	1	B;D	0.61697	0.004;0.99	B;P	0.60068	0.007;0.868	T	0.41233	-0.9520	10	0.56958	D	0.05	.	1.3232	0.02120	0.243:0.1553:0.4427:0.159	.	3046;1944	E9PH94;Q9H799	.;CE042_HUMAN	R	3046;3046;1944;2112	ENSP00000421690:P3046R;ENSP00000389014:P3046R;ENSP00000274258:P1944R;ENSP00000424223:P2112R	ENSP00000274258:P1944R	P	-	2	0	C5orf42	37156086	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	0.167000	0.16602	0.193000	0.20303	0.655000	0.94253	CCT		0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		C	37120329	G	C	37120329	3	2	230	1	0	0	0	0	1	0	0	0	2303	1000	35	4	472	4	C5orf42	5	37120329	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08		37120329	143794931	11	13981											
APC	324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112170717	112170717	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr5:112170717G>A	ENST00000457016.1	+	15	2193	c.1813G>A	c.(1813-1815)Gat>Aat	p.D605N	APC_ENST00000257430.4_Missense_Mutation_p.D605N|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.D605N			P25054	APC_HUMAN	adenomatous polyposis coli	605	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.D605N(1)|p.?(1)|p.C607fs*4(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAATAAAGCTGATATATGTGC	0.408		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	3	Substitution - Missense(1)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|kidney(1)|skin(1)											205	169	181					5																	112170717		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1813G>A	5.37:g.112170717G>A	ENSP00000413133:p.Asp605Asn		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431865	0.83776	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.047484	0.85682	D	0.000000	T	0.63803	0.2542	L	0.53249	1.67	0.80722	D	1	B;B	0.30179	0.271;0.271	B;B	0.32624	0.104;0.149	T	0.62020	-0.6942	10	0.56958	D	0.05	-21.9068	20.3409	0.98764	0.0:0.0:1.0:0.0	.	607;605	Q4LE70;P25054	.;APC_HUMAN	N	605;587;605;605;605	ENSP00000413133:D605N;ENSP00000423224:D587N;ENSP00000257430:D605N;ENSP00000427089:D605N;ENSP00000423828:D605N	ENSP00000257430:D605N	D	+	1	0	APC	112198616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GAT		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		A	112170717	G	A	112170717	3	1	230	1	0	0	0	0	1	0	0	0	763	1290	45	2	1867	2	APC	5	112170717	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08	75050388	112170717	68744543	12	13982											
CEP120	153241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	122722335	122722336	+	Nonsense_Mutation	DNP	GC	GC	CA			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr5:122722335_122722336GC>CA	ENST00000306467.5	-	10	1760_1761	c.1456_1457GC>TG	c.(1456-1458)GCa>TGa	p.A486*	CEP120_ENST00000306481.6_Nonsense_Mutation_p.A460*|CEP120_ENST00000328236.5_Nonsense_Mutation_p.A486*			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	486					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A486G(1)|p.A486*(1)|p.A486S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AATAGGAGCTGCACTTCCAAAG	0.327																																																3	Substitution - Missense(2)|Substitution - Nonsense(1)	kidney(3)																																								SO:0001587	stop_gained	153241			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1456_1457delinsCA	5.37:g.122722335_122722336delinsCA	ENSP00000303058:p.Ala486*		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	CCDS4134.2																																																																																				0.327	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		CA	122722336	GC	CA	122722335	4	2	230	1	0	0	0	0	0	1	0	0	3248	1319	46	4	1547	4	CEP120	5	122722335	Nonsense_Mutation	DNP	GC	TCGA-B0-5812-01A-11D-1669-08	10551618	122722335	58192925	13	13983											
TUBB2B	347733	broad.mit.edu	37	6	3227737	3227737	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr6:3227737T>C	ENST00000259818.7	-	1	232	c.41A>G	c.(40-42)aAc>aGc	p.N14S	TUBB2B_ENST00000473006.1_Intron	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	14					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.N14S(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCCGATCTGGTTGCCGCACTG	0.731																																																1	Substitution - Missense(1)	kidney(1)											40	41	40					6																	3227737		2200	4299	6499	SO:0001583	missense	347733			BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"Tubulins"	30829	protein-coding gene	gene with protein product	"class IIb beta-tubulin"	612850	"tubulin, beta 2B"			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.41A>G	6.37:g.3227737T>C	ENSP00000259818:p.Asn14Ser		A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119422	0.56505	.	.	ENSG00000137285	ENST00000259818	T	0.74421	-0.84	4.34	4.34	0.51931	Tubulin/FtsZ, GTPase domain (3);	0.208195	0.32769	N	0.005662	T	0.79118	0.4392	H	0.96833	3.89	0.58432	D	0.999999	B;B	0.26672	0.031;0.156	B;B	0.31946	0.067;0.138	D	0.84119	0.0405	10	0.87932	D	0	.	13.9792	0.64295	0.0:0.0:0.0:1.0	.	14;14	Q8IZ29;Q9BVA1	.;TBB2B_HUMAN	S	14	ENSP00000259818:N14S	ENSP00000259818:N14S	N	-	2	0	TUBB2B	3172736	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.844000	0.69430	1.947000	0.56498	0.459000	0.35465	AAC		0.731	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		C	3227737	T	C	3227737	3	2	230	1	0	0	0	0	1	0	0	0	16760	1725	60	3	1312	3	TUBB2B	6	3227737	Missense_Mutation	SNP	T	TCGA-B0-5812-01A-11D-1669-08		3227737	167887330	14	13984											
LRFN2	57497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	40400076	40400076	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr6:40400076G>C	ENST00000338305.6	-	2	1319	c.777C>G	c.(775-777)gaC>gaG	p.D259E		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	259	LRRCT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.D259E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGGTCATCGTCCCGCTCGA	0.597																																																1	Substitution - Missense(1)	kidney(1)											33	36	35					6																	40400076		2203	4300	6503	SO:0001583	missense	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.777C>G	6.37:g.40400076G>C	ENSP00000345985:p.Asp259Glu		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.251187	0.00268	.	.	ENSG00000156564	ENST00000338305	T	0.02323	4.34	5.42	-9.56	0.00566	Cysteine-rich flanking region, C-terminal (1);	0.297933	0.41938	N	0.000796	T	0.00178	0.0005	N	0.00500	-1.43	0.29757	N	0.835864	B	0.06786	0.001	B	0.09377	0.004	T	0.28744	-1.0034	10	0.02654	T	1	.	5.8941	0.18929	0.3763:0.4418:0.0986:0.0833	.	259	Q9ULH4	LRFN2_HUMAN	E	259	ENSP00000345985:D259E	ENSP00000345985:D259E	D	-	3	2	LRFN2	40508054	0.000000	0.05858	0.532000	0.27989	0.332000	0.28634	-1.818000	0.01717	-1.523000	0.01767	-1.008000	0.02478	GAC		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		C	40400076	G	C	40400076	3	2	230	1	0	0	0	0	1	0	0	0	8940	1136	40	4	1600	4	LRFN2	6	40400076	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08	37172339	40400076	130714991	15	13985											
PKHD1	5314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	51656133	51656133	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr6:51656133T>C	ENST00000371117.3	-	53	8616	c.8341A>G	c.(8341-8343)Aaa>Gaa	p.K2781E	PKHD1_ENST00000340994.4_Missense_Mutation_p.K2781E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2781	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.K2781E(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TACAGCCCTTTGAAGAATGGA	0.443																																																2	Substitution - Missense(2)	kidney(2)											133	111	118					6																	51656133		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8341A>G	6.37:g.51656133T>C	ENSP00000360158:p.Lys2781Glu		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	6.514	0.463089	0.12402	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89196	-2.48;-2.48	5.68	3.2	0.36748	G8 domain (2);	0.637544	0.15998	N	0.234461	T	0.64516	0.2605	L	0.47716	1.5	0.19575	N	0.999962	P;B;P	0.43231	0.801;0.43;0.801	B;B;B	0.38378	0.138;0.079;0.272	T	0.63161	-0.6699	10	0.02654	T	1	.	7.0767	0.25209	0.0:0.0727:0.2584:0.6688	.	2781;2781;2781	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	E	2781	ENSP00000360158:K2781E;ENSP00000341097:K2781E	ENSP00000341097:K2781E	K	-	1	0	PKHD1	51764092	1.000000	0.71417	0.370000	0.25965	0.208000	0.24298	2.098000	0.41757	0.384000	0.24942	0.533000	0.62120	AAA		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51656133	T	C	51656133	3	2	230	1	0	0	0	0	1	0	0	0	11973	1821	63	3	3982	3	PKHD1	6	51656133	Missense_Mutation	SNP	T	TCGA-B0-5812-01A-11D-1669-08	11256057	51656133	119458934	16	13986											
LAMB1	3912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107605113	107605113	+	Nonsense_Mutation	SNP	G	G	A	rs375014512		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr7:107605113G>A	ENST00000222399.6	-	14	1812	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*	LAMB1_ENST00000393561.1_Nonsense_Mutation_p.Q552*|LAMB1_ENST00000393560.1_Nonsense_Mutation_p.Q528*	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	528	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.Q528*(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CATGAGCACTGGCCTGACTCC	0.557																																																1	Substitution - Nonsense(1)	kidney(1)						G	stop/GLN	0,4406		0,0,2203	92	75	81		1582	4.6	1	7		81	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	LAMB1	NM_002291.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		528/1787	107605113	1,13005	2203	4300	6503	SO:0001587	stop_gained	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1582C>T	7.37:g.107605113G>A	ENSP00000222399:p.Gln528*		Q14D91	Nonsense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	41	8.744884	0.98937	0.0	1.16E-4	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.501	0.87732	0.0:0.0:1.0:0.0	.	.	.	.	X	552;528;528	.	ENSP00000222399:Q528X	Q	-	1	0	LAMB1	107392349	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.435000	0.97529	2.129000	0.65627	0.563000	0.77884	CAG		0.557	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		A	107605113	G	A	107605113	4	1	230	1	0	0	0	0	0	1	0	0	8612	1357	47	2	3862	2	LAMB1	7	107605113	Nonsense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08		107605113	51533550	17	13987											
SSPO	23145	broad.mit.edu	37	7	149486279	149486279	+	RNA	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr7:149486279G>A	ENST00000378016.2	+	0	4255							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGGGGAGGGGCAGATGAC	0.662																																																0													18	21	20					7																	149486279		2136	4246	6382			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486279G>A			Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149486279	G	A	149486279	1	1	230	0	1	0	0	0	0	0	0	0	15194	1232	43	2		2	SSPO	7	149486279	RNA	SNP	G	TCGA-B0-5812-01A-11D-1669-08	41881166	149486279	9652384	18	13988											
ERICH1	157697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	623548	623548	+	Silent	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr8:623548G>A	ENST00000262109.7	-	4	881	c.804C>T	c.(802-804)gaC>gaT	p.D268D	ERICH1_ENST00000522706.1_Silent_p.D174D|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	268	Glu-rich.							p.D268D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CCTCCCTGGCGTCTTTAACGT	0.647																																																1	Substitution - coding silent(1)	kidney(1)											123	121	122					8																	623548		2203	4300	6503	SO:0001819	synonymous_variant	157697				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.804C>T	8.37:g.623548G>A			A8K2J9|Q9P063	Silent	SNP	ENST00000262109.7	37	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	G	2.351	-0.348905	0.05208	.	.	ENSG00000104714	ENST00000522893	.	.	.	0.939	0.0174	0.14112	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.27123	-1.0083	4	.	.	.	-0.1622	5.3558	0.16059	0.2221:0.0:0.7779:0.0	.	.	.	.	M	37	.	.	T	-	2	0	ERICH1	613548	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-3.055000	0.00626	-0.017000	0.14103	-0.507000	0.04495	ACG		0.647	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		A	623548	G	A	623548	2	1	230	1	0	0	0	0	0	0	0	1	5232	1136	40	1		1	ERICH1	8	623548	Silent	SNP	G	TCGA-B0-5812-01A-11D-1669-08		623548	145740474	19	13989											
MSR1	4481	broad.mit.edu;hgsc.bcm.edu	37	8	16021600	16021600	+	Missense_Mutation	SNP	G	G	T	rs143967440		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr8:16021600G>T	ENST00000262101.5	-	5	912	c.791C>A	c.(790-792)aCc>aAc	p.T264N	MSR1_ENST00000445506.2_Missense_Mutation_p.T282N|MSR1_ENST00000536385.1_Missense_Mutation_p.T38N|MSR1_ENST00000381998.4_Missense_Mutation_p.T264N|MSR1_ENST00000355282.2_Missense_Mutation_p.T264N|MSR1_ENST00000350896.3_Missense_Mutation_p.T264N			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	264					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.T264N(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTCTCAAGGTCTGAGAATG	0.308																																																2	Substitution - Missense(2)	kidney(2)											154	138	144					8																	16021600		2202	4297	6499	SO:0001583	missense	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.791C>A	8.37:g.16021600G>T	ENSP00000262101:p.Thr264Asn		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.097158	0.56075	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;D;D;D;D;D;D	0.94232	-3.38;-1.59;-1.59;-3.38;-2.68;-3.38;-2.85	4.8	4.8	0.61643	Macrophage scavenger receptor (1);	0.102025	0.44097	D	0.000494	D	0.95370	0.8497	M	0.65975	2.015	0.27571	N	0.949882	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	P;D;D;D;D	0.85130	0.9;0.997;0.984;0.997;0.946	D	0.89837	0.4000	10	0.66056	D	0.02	.	9.7225	0.40311	0.0961:0.0:0.9039:0.0	.	38;282;264;264;264	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	N	264;264;282;264;54;264;38	ENSP00000262100:T264N;ENSP00000262101:T264N;ENSP00000405453:T282N;ENSP00000347430:T264N;ENSP00000430536:T54N;ENSP00000371428:T264N;ENSP00000444414:T38N	ENSP00000262101:T264N	T	-	2	0	MSR1	16065971	0.964000	0.33143	0.957000	0.39632	0.809000	0.45718	2.752000	0.47516	2.596000	0.87737	0.655000	0.94253	ACC		0.308	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			T	16021600	G	T	16021600	3	4	230	1	0	0	0	0	1	0	0	0	9888	1261	44	4	636	4	MSR1	8	16021600	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08	15398052	16021600	130342422	20	13990											
RIMS2	9699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	104709441	104709441	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr8:104709441G>C	ENST00000406091.3	+	2	304	c.304G>C	c.(304-306)Gat>Cat	p.D102H		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	133	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.D102H(1)|p.D138H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAGTTTGCTGATGGATGTGG	0.433										HNSCC(12;0.0054)																																						2	Substitution - Missense(2)	kidney(2)											179	179	179					8																	104709441		1995	4172	6167	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.304G>C	8.37:g.104709441G>C	ENSP00000384892:p.Asp102His		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939389	0.92526	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.37752	1.18;1.18	5.57	5.57	0.84162	.	.	.	.	.	T	0.68641	0.3023	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74665	-0.3589	9	0.87932	D	0	.	19.6251	0.95674	0.0:0.0:1.0:0.0	.	102	F8WD47	.	H	102;133;102;133	ENSP00000427018:D102H;ENSP00000384892:D102H	ENSP00000332184:D133H	D	+	1	0	RIMS2	104778617	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.865000	0.99609	2.623000	0.88846	0.556000	0.70494	GAT		0.433	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		C	104709441	G	C	104709441	3	2	230	1	0	0	0	0	1	0	0	0	13374	1290	45	4	310	4	RIMS2	8	104709441	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08	88687841	104709441	41654581	21	13991											
ALDOB	229	hgsc.bcm.edu;ucsc.edu	37	9	104190767	104190770	+	Frame_Shift_Del	DEL	TTTG	TTTG	-	rs387906225		TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	TTTG	TTTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr9:104190767_104190770delTTTG	ENST00000374855.4	-	4	484_487	c.360_363delCAAA	c.(358-363)aacaaafs	p.NK120fs	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	120			Missing (in HFI). {ECO:0000269|PubMed:15532022}.		carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGGTGGTTTCTTTGTTTGTTCCTG	0.402																																																0			GRCh37	CD900270	ALDOB	D				0,4264		0,0,2132						5.9	1			251	1,8253		0,1,4126	no	frameshift	ALDOB	NM_000035.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.360_363delCAAA	9.37:g.104190771_104190774delTTTG	ENSP00000363988:p.Asn120fs		Q13741|Q13742|Q5T7D6	Frame_Shift_Del	DEL	ENST00000374855.4	37	CCDS6756.1																																																																																				0.402	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			-	104190770	TTTG	-	104190767	7	5	230	1	0	1	0	1	0	0	0	0	508	1606	56	0	755	0	ALDOB	9	104190767	Frame_Shift_Del	DEL	TTTG	TCGA-B0-5812-01A-11D-1669-08		104190767	37022664	22	13992											
LAMC3	10319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133942552	133942552	+	Silent	SNP	C	C	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr9:133942552C>T	ENST00000361069.4	+	14	2686	c.2553C>T	c.(2551-2553)taC>taT	p.Y851Y	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	851	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.Y851Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AAGGCTTCTACGGGAGCGCCC	0.642																																																1	Substitution - coding silent(1)	kidney(1)											99	87	91					9																	133942552		2203	4300	6503	SO:0001819	synonymous_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2553C>T	9.37:g.133942552C>T			B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																				0.642	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		T	133942552	C	T	133942552	2	4	230	1	0	0	0	0	0	0	0	1	8618	547	19	1		1	LAMC3	9	133942552	Silent	SNP	C	TCGA-B0-5812-01A-11D-1669-08	29751785	133942552	7270879	23	13993											
C9orf140	89958	broad.mit.edu	37	9	139959180	139959180	+	Silent	SNP	A	A	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr9:139959180A>G	ENST00000409687.3	-	6	1243	c.1116T>C	c.(1114-1116)atT>atC	p.I372I	RP11-229P13.23_ENST00000456356.2_RNA|RP11-229P13.22_ENST00000435463.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	372						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.I367I(1)									ACAGCTGCTTAATGAGCGCCG	0.652											OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											41	38	39					9																	139959180		2192	4292	6484	SO:0001819	synonymous_variant	0			BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"chromosome 9 open reading frame 140"	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.1116T>C	9.37:g.139959180A>G		1652		Silent	SNP	ENST00000409687.3	37	CCDS7027.2																																																																																				0.652	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055215.2	NM_178448		G	139959180	A	G	139959180	2	3	230	1	0	0	0	0	0	0	0	1	2462	358	13	3		3	C9orf140	9	139959180	Silent	SNP	A	TCGA-B0-5812-01A-11D-1669-08	6016628	139959180	1254251	24	13994											
SLC39A12	221074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	18250701	18250701	+	Silent	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr10:18250701G>A	ENST00000377369.2	+	3	726	c.453G>A	c.(451-453)agG>agA	p.R151R	SLC39A12_ENST00000539911.1_Silent_p.R17R|SLC39A12_ENST00000377374.4_Silent_p.R151R|SLC39A12_ENST00000377371.3_Silent_p.R151R	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	151					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.R151R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGAGCCTCAGGCAGGATGAAG	0.398																																																1	Substitution - coding silent(1)	kidney(1)											80	83	82					10																	18250701		2203	4300	6503	SO:0001819	synonymous_variant	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.453G>A	10.37:g.18250701G>A			B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	CCDS44362.1																																																																																				0.398	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		A	18250701	G	A	18250701	2	1	230	1	0	0	0	0	0	0	0	1	14621	1194	42	2		2	SLC39A12	10	18250701	Silent	SNP	G	TCGA-B0-5812-01A-11D-1669-08		18250701	117284046	25	13995											
MADD	8567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47306055	47306055	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr11:47306055G>A	ENST00000311027.5	+	12	2261	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	MADD_ENST00000407859.3_Missense_Mutation_p.R699H|MADD_ENST00000349238.3_Missense_Mutation_p.R699H|MADD_ENST00000395336.3_Missense_Mutation_p.R699H|MADD_ENST00000402192.2_Missense_Mutation_p.R699H|MADD_ENST00000395344.3_Missense_Mutation_p.R699H|MADD_ENST00000402799.1_Missense_Mutation_p.R699H|MADD_ENST00000406482.1_Missense_Mutation_p.R699H|MADD_ENST00000342922.4_Missense_Mutation_p.R699H	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.R699H(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCCCCACTGCGCTCCAGCTCT	0.592																																																1	Substitution - Missense(1)	kidney(1)											59	64	62					11																	47306055		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2096G>A	11.37:g.47306055G>A	ENSP00000310933:p.Arg699His			Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587544	0.86851	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06449	3.33;3.35;3.35;3.37;3.39;3.3;3.34;3.39;3.33	5.96	3.04	0.35103	.	0.196702	0.56097	N	0.000030	T	0.17195	0.0413	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.964;0.996;0.999;0.97;0.985;0.998;0.999;0.998;0.991;0.998	T	0.02053	-1.1222	10	0.25751	T	0.34	-3.3904	8.567	0.33545	0.1308:0.0:0.7432:0.126	.	699;699;699;699;699;699;699;699;699;699	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	H	699	ENSP00000343902:R699H;ENSP00000385585:R699H;ENSP00000384435:R699H;ENSP00000304505:R699H;ENSP00000310933:R699H;ENSP00000384204:R699H;ENSP00000378753:R699H;ENSP00000378745:R699H;ENSP00000384287:R699H	ENSP00000310933:R699H	R	+	2	0	MADD	47262631	1.000000	0.71417	0.782000	0.31804	0.993000	0.82548	3.263000	0.51546	0.396000	0.25283	0.655000	0.94253	CGC		0.592	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			A	47306055	G	A	47306055	3	1	230	1	0	0	0	0	1	0	0	0	9154	1087	38	1	2138	1	MADD	11	47306055	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08		47306055	87700461	26	13996											
GRM5	2915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	88330476	88330476	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr11:88330476T>G	ENST00000305447.4	-	5	1588	c.1439A>C	c.(1438-1440)gAt>gCt	p.D480A	GRM5_ENST00000455756.2_Missense_Mutation_p.D480A|GRM5_ENST00000393297.1_Missense_Mutation_p.D480A|GRM5_ENST00000418177.2_Missense_Mutation_p.D480A|GRM5_ENST00000305432.5_Missense_Mutation_p.D480A	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	480					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.D480A(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GTTGATATAATCAAAGTAATC	0.323																																																2	Substitution - Missense(2)	kidney(2)											137	119	125					11																	88330476		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1439A>C	11.37:g.88330476T>G	ENSP00000306138:p.Asp480Ala		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.199592	0.38806	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	5.4	5.4	0.78164	.	0.149940	0.64402	D	0.000013	D	0.82440	0.5037	L	0.58810	1.83	0.45005	D	0.99802	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.002	T	0.77713	-0.2485	9	.	.	.	.	15.4159	0.74966	0.0:0.0:0.0:1.0	.	480;480	P41594-2;P41594	.;GRM5_HUMAN	A	480	ENSP00000402912:D480A;ENSP00000405690:D480A;ENSP00000305905:D480A;ENSP00000306138:D480A;ENSP00000376975:D480A	.	D	-	2	0	GRM5	87970124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.836000	0.62789	2.053000	0.61076	0.528000	0.53228	GAT		0.323	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		G	88330476	T	G	88330476	3	3	230	1	0	0	0	0	1	0	0	0	6802	1435	50	5	2219	5	GRM5	11	88330476	Missense_Mutation	SNP	T	TCGA-B0-5812-01A-11D-1669-08	41024421	88330476	46676040	27	13997											
HYOU1	10525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118925901	118925901	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr11:118925901T>A	ENST00000404233.3	-	5	539	c.415A>T	c.(415-417)Agc>Tgc	p.S139C	HYOU1_ENST00000543287.1_Missense_Mutation_p.S52C|HYOU1_ENST00000529972.1_Missense_Mutation_p.S139C|HYOU1_ENST00000525859.1_Missense_Mutation_p.S139C	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	139					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.S139C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACTCACGAGCTGATCTGAAAG	0.567																																																1	Substitution - Missense(1)	kidney(1)											105	94	97					11																	118925901		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.415A>T	11.37:g.118925901T>A	ENSP00000384144:p.Ser139Cys		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491758	0.84962	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000541069;ENST00000529972;ENST00000536103;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.03982	5.41;5.41;5.41;3.74;5.41	5.55	5.55	0.83447	.	0.092964	0.85682	D	0.000000	T	0.17874	0.0429	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.986;0.994;0.994	T	0.00198	-1.1929	10	0.66056	D	0.02	.	9.355	0.38161	0.2708:0.0:0.0:0.7292	.	130;183;139;139	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	C	139;130;139;139;139;139;182;52;139	ENSP00000384144:S139C;ENSP00000437313:S139C;ENSP00000433397:S139C;ENSP00000442727:S52C;ENSP00000431874:S139C	ENSP00000278752:S130C	S	-	1	0	HYOU1	118431111	0.999000	0.42202	1.000000	0.80357	0.870000	0.49936	2.673000	0.46858	2.098000	0.63641	0.459000	0.35465	AGC		0.567	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		A	118925901	T	A	118925901	3	1	230	1	0	0	0	0	1	0	0	0	7472	1580	55	5	2672	5	HYOU1	11	118925901	Missense_Mutation	SNP	T	TCGA-B0-5812-01A-11D-1669-08	30595425	118925901	16080615	28	13998											
ST8SIA1	6489	hgsc.bcm.edu	37	12	22354703	22354703	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr12:22354703C>T	ENST00000396037.4	-	5	1335	c.854G>A	c.(853-855)gGt>gAt	p.G285D	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.G142D	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	285					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.G285D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TTCACAGAGACCCAGAGCTGC	0.507																																																1	Substitution - Missense(1)	kidney(1)											64	66	65					12																	22354703		2203	4300	6503	SO:0001583	missense	6489			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.854G>A	12.37:g.22354703C>T	ENSP00000379353:p.Gly285Asp		A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267353	0.59540	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	T;T	0.28666	1.6;1.6	5.73	5.73	0.89815	.	0.148139	0.64402	D	0.000010	T	0.52773	0.1755	M	0.80847	2.515	0.54753	D	0.999986	D;B	0.69078	0.997;0.157	P;B	0.61132	0.884;0.102	T	0.45234	-0.9275	10	0.22706	T	0.39	-21.6151	15.7112	0.77629	0.0:0.864:0.136:0.0	.	142;285	G3V1U7;Q92185	.;SIA8A_HUMAN	D	285;142	ENSP00000379353:G285D;ENSP00000446363:G142D	ENSP00000379353:G285D	G	-	2	0	ST8SIA1	22245970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.925000	0.63425	2.861000	0.98227	0.655000	0.94253	GGT		0.507	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		T	22354703	C	T	22354703	3	4	230	1	0	0	0	0	1	0	0	0	15236	507	18	2	220	2	ST8SIA1	12	22354703	Missense_Mutation	SNP	C	TCGA-B0-5812-01A-11D-1669-08		22354703	111497192	29	13999											
SLC41A2	84102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	105282811	105282811	+	Splice_Site	SNP	C	C	G			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr12:105282811C>G	ENST00000258538.3	-	4	1007	c.880G>C	c.(880-882)Gga>Cga	p.G294R		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	294					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.G211R(1)|p.G294R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ATTCACTTACCCTGCAGAAGA	0.333																																					Esophageal Squamous(195;176 2919 4272 35572)											2	Substitution - Missense(2)	kidney(2)											92	96	95					12																	105282811		2203	4300	6503	SO:0001630	splice_region_variant	84102			BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"Solute carriers"	31045	protein-coding gene	gene with protein product		610802	"solute carrier family 41, member 2"				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.880+1G>C	12.37:g.105282811C>G			Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	CCDS9100.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.138396|5.138396	0.94560|0.94560	.|.	.|.	ENSG00000136052|ENSG00000136052	ENST00000258538|ENST00000437220	T|.	0.31510|.	1.49|.	5.55|5.55	5.55|5.55	0.83447|0.83447	MgtE magnesium transporter, integral membrane (1);|.	0.050399|.	0.85682|.	D|.	0.000000|.	D|D	0.86343|0.86343	0.5910|0.5910	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	D|D	0.88672|0.88672	0.3196|0.3196	9|5	.|.	.|.	.|.	-1.4969|-1.4969	19.4866|19.4866	0.95032|0.95032	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	294|.	Q96JW4|.	S41A2_HUMAN|.	R|S	294|149	ENSP00000258538:G294R|.	.|.	G|R	-|-	1|3	0|2	SLC41A2|SLC41A2	103806941|103806941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	7.296000|7.296000	0.78790|0.78790	2.612000|2.612000	0.88384|0.88384	0.591000|0.591000	0.81541|0.81541	GGA|AGG		0.333	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148	Missense_Mutation	G	105282811	C	G	105282811	5	3	230	1	0	0	0	0	0	0	1	0	14636	637	22	4	869	4	SLC41A2	12	105282811	Splice_Site	SNP	C	TCGA-B0-5812-01A-11D-1669-08	82928108	105282811	28569084	30	14000											
MLEC	9761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121132708	121132708	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr12:121132708G>A	ENST00000228506.3	+	3	924	c.496G>A	c.(496-498)Gat>Aat	p.D166N	MLEC_ENST00000412616.2_Intron|RP11-173P15.3_ENST00000541383.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	166					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.D166N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CACAGCTCACGATGAAATTAT	0.453																																																1	Substitution - Missense(1)	kidney(1)											193	183	186					12																	121132708		2203	4300	6503	SO:0001583	missense	9761			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	613802	"KIAA0152"	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.496G>A	12.37:g.121132708G>A	ENSP00000228506:p.Asp166Asn			Missense_Mutation	SNP	ENST00000228506.3	37	CCDS9206.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.467100|5.467100	0.96257|0.96257	.|.	.|.	ENSG00000110917|ENSG00000110917	ENST00000228506;ENST00000545525|ENST00000535656	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Malectin (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84986|0.84986	0.5594|0.5594	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	D|D	0.86687|0.86687	0.1920|0.1920	9|5	0.38643|.	T|.	0.18|.	.|.	19.6371|19.6371	0.95737|0.95737	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	166|.	Q14165|.	MLEC_HUMAN|.	N|Q	166;83|62	.|.	ENSP00000228506:D166N|.	D|R	+|+	1|2	0|0	MLEC|MLEC	119617091|119617091	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.987000|0.987000	0.75469|0.75469	9.403000|9.403000	0.97302|0.97302	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.453	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		A	121132708	G	A	121132708	3	1	230	1	0	0	0	0	1	0	0	0	9615	1058	37	1	506	1	MLEC	12	121132708	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08	15849897	121132708	12719187	31	14001											
EDNRB	1910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	78472463	78472463	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr13:78472463A>C	ENST00000334286.5	-	7	1437	c.1201T>G	c.(1201-1203)Tta>Gta	p.L401V	EDNRB_ENST00000377211.4_Missense_Mutation_p.L491V|EDNRB_ENST00000446573.1_Intron	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	401					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.L491V(1)|p.L401V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CAGCAGCATAAGCATGACTGT	0.403																																																2	Substitution - Missense(2)	kidney(2)											90	81	84					13																	78472463		2203	4299	6502	SO:0001583	missense	1910			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1201T>G	13.37:g.78472463A>C	ENSP00000335311:p.Leu401Val		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.685532	0.68157	.	.	ENSG00000136160	ENST00000377211;ENST00000334286	D;D	0.95980	-3.87;-3.87	5.9	2.12	0.27331	.	0.000000	0.85682	D	0.000000	D	0.96510	0.8861	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.95168	0.8287	10	0.56958	D	0.05	-10.3135	9.7339	0.40376	0.7388:0.0:0.2612:0.0	.	491;401	P24530-3;P24530	.;EDNRB_HUMAN	V	491;401	ENSP00000366416:L491V;ENSP00000335311:L401V	ENSP00000335311:L401V	L	-	1	2	EDNRB	77370464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.081000	0.41596	0.495000	0.27882	0.528000	0.53228	TTA		0.403	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			C	78472463	A	C	78472463	3	2	230	1	0	0	0	0	1	0	0	0	4922	69	3	5	252	5	EDNRB	13	78472463	Missense_Mutation	SNP	A	TCGA-B0-5812-01A-11D-1669-08		78472463	36697415	32	14002											
ARHGEF7	8874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	111932908	111932908	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr13:111932908G>T	ENST00000375741.2	+	16	1922	c.1672G>T	c.(1672-1674)Gtg>Ttg	p.V558L	ARHGEF7_ENST00000218789.5_Missense_Mutation_p.V380L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.V508L|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.V380L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.V537L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.V380L|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.V465L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.V302L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.V455L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.V380L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	558	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V380L(1)|p.V537L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCGGATATTAGTGTCGTGCAA	0.507																																																2	Substitution - Missense(2)	kidney(2)											142	127	132					13																	111932908		2203	4300	6503	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1672G>T	13.37:g.111932908G>T	ENSP00000364893:p.Val558Leu		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090351	0.55968	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.03	4.18	0.49190	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	M	0.83312	2.635	0.80722	D	1	B;B;B;B;B	0.25390	0.003;0.109;0.022;0.125;0.027	B;B;B;P;B	0.44696	0.047;0.188;0.144;0.458;0.128	T	0.49995	-0.8879	10	0.20046	T	0.44	.	13.0124	0.58739	0.0779:0.0:0.922:0.0	.	302;455;508;558;537	E9PDQ5;B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;.;ARHG7_HUMAN;.	L	537;558;508;465;535;380;380;380;380;455;380;302	ENSP00000325994:V537L;ENSP00000364893:V558L;ENSP00000364891:V508L;ENSP00000359657:V465L;ENSP00000418067:V380L;ENSP00000218789:V380L;ENSP00000364888:V380L;ENSP00000397068:V380L;ENSP00000364889:V455L;ENSP00000364875:V380L;ENSP00000417596:V302L	ENSP00000218789:V380L	V	+	1	0	ARHGEF7	110730909	1.000000	0.71417	0.044000	0.18714	0.793000	0.44817	8.911000	0.92721	1.109000	0.41680	0.557000	0.71058	GTG		0.507	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		T	111932908	G	T	111932908	3	4	230	1	0	0	0	0	1	0	0	0	911	1029	36	4	1734	4	ARHGEF7	13	111932908	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08	33460445	111932908	3236970	33	14003											
EML1	2009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	100375765	100375765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr14:100375765C>A	ENST00000262233.6	+	11	1327	c.1188C>A	c.(1186-1188)taC>taA	p.Y396*	EML1_ENST00000334192.4_Nonsense_Mutation_p.Y415*|EML1_ENST00000327921.9_Nonsense_Mutation_p.Y384*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	396	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.Y415*(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CACATCTCTACTTTTGGACAC	0.378																																																2	Substitution - Nonsense(2)	breast(1)|kidney(1)											152	150	151					14																	100375765		2203	4300	6503	SO:0001587	stop_gained	2009			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1188C>A	14.37:g.100375765C>A	ENSP00000262233:p.Tyr396*		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.792554|12.792554	0.99696|0.99696	.|.	.|.	ENSG00000066629|ENSG00000066629	ENST00000554386|ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	.|.	.|.	.|.	5.18|5.18	4.3|4.3	0.51218|0.51218	.|.	.|0.120826	.|0.64402	.|D	.|0.000014	T|.	0.22936|.	0.0554|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31166|.	-0.9953|.	3|.	.|0.02654	.|T	.|1	-25.9836|-25.9836	8.7197|8.7197	0.34434|0.34434	0.0:0.7805:0.0:0.2195|0.0:0.7805:0.0:0.2195	.|.	.|.	.|.	.|.	I|X	89|384;396;415;415	.|.	.|ENSP00000262233:Y396X	L|Y	+|+	1|3	0|2	EML1|EML1	99445518|99445518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	3.200000|3.200000	0.51051|0.51051	1.198000|1.198000	0.43158|0.43158	0.655000|0.655000	0.94253|0.94253	CTT|TAC		0.378	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		A	100375765	C	A	100375765	4	1	230	1	0	0	0	0	0	1	0	0	5098	576	20	4	1291	4	EML1	14	100375765	Nonsense_Mutation	SNP	C	TCGA-B0-5812-01A-11D-1669-08		100375765	6973775	34	14004											
BAHD1	22893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40758186	40758186	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr15:40758186A>C	ENST00000416165.1	+	7	2271	c.2200A>C	c.(2200-2202)Aag>Cag	p.K734Q	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.K731Q|BAHD1_ENST00000561234.1_Missense_Mutation_p.K733Q	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	734	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)	p.K734Q(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCCAGCCGAAAGACAGCACT	0.587																																																1	Substitution - Missense(1)	kidney(1)											136	126	129					15																	40758186		2203	4300	6503	SO:0001583	missense	22893			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2200A>C	15.37:g.40758186A>C	ENSP00000396976:p.Lys734Gln		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.460213	0.43736	.	.	ENSG00000140320	ENST00000416165	T	0.19394	2.15	5.39	4.2	0.49525	Bromo adjacent homology (BAH) domain (3);	0.166091	0.52532	D	0.000062	T	0.25791	0.0628	L	0.28192	0.835	0.29532	N	0.852695	P;D;D	0.56521	0.589;0.976;0.97	B;P;P	0.57057	0.215;0.812;0.714	T	0.03086	-1.1074	10	0.45353	T	0.12	-21.5384	12.0379	0.53435	0.8559:0.144:0.0:0.0	.	731;734;733	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	Q	734	ENSP00000396976:K734Q	ENSP00000396976:K734Q	K	+	1	0	BAHD1	38545478	1.000000	0.71417	0.987000	0.45799	0.972000	0.66771	3.015000	0.49599	2.057000	0.61298	0.460000	0.39030	AAG		0.587	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		C	40758186	A	C	40758186	3	2	230	1	0	0	0	0	1	0	0	0	1297	15	1	5	2222	5	BAHD1	15	40758186	Missense_Mutation	SNP	A	TCGA-B0-5812-01A-11D-1669-08		40758186	61773206	35	14005											
TGM5	9333	broad.mit.edu;hgsc.bcm.edu	37	15	43533161	43533161	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr15:43533161C>A	ENST00000220420.5	-	7	897	c.890G>T	c.(889-891)cGt>cTt	p.R297L	TGM5_ENST00000349114.4_Missense_Mutation_p.R215L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	297					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R297L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGTGATCACACGGGTAGGGAT	0.478																																																1	Substitution - Missense(1)	kidney(1)											156	139	145					15																	43533161		2202	4299	6501	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.890G>T	15.37:g.43533161C>A	ENSP00000220420:p.Arg297Leu		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.938792	0.92526	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.78924	-1.22;-1.22	5.7	4.78	0.61160	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.91274	0.7249	H	0.96398	3.815	0.41589	D	0.988782	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93502	0.6845	10	0.87932	D	0	-9.2785	12.8505	0.57855	0.0:0.9201:0.0:0.0799	.	215;297	O43548-2;O43548	.;TGM5_HUMAN	L	297;215;296	ENSP00000220420:R297L;ENSP00000220419:R215L	ENSP00000220420:R297L	R	-	2	0	TGM5	41320453	1.000000	0.71417	0.870000	0.34147	0.995000	0.86356	6.087000	0.71362	1.404000	0.46819	0.655000	0.94253	CGT		0.478	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		A	43533161	C	A	43533161	3	1	230	1	0	0	0	0	1	0	0	0	15838	536	19	4	1300	4	TGM5	15	43533161	Missense_Mutation	SNP	C	TCGA-B0-5812-01A-11D-1669-08	2774975	43533161	58998231	36	14006											
STAC2	342667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37369246	37369246	+	Splice_Site	SNP	A	A	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr17:37369246A>C	ENST00000333461.5	-	10	1501		c.e10+1			NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.?(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCAGGCACTCACCTGGTTCTC	0.632																																																1	Unknown(1)	kidney(1)											71	68	69					17																	37369246		2203	4300	6503	SO:0001630	splice_region_variant	342667			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1131+1T>G	17.37:g.37369246A>C			Q32MA3	Splice_Site	SNP	ENST00000333461.5	37	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934005	0.73442	.	.	ENSG00000141750	ENST00000333461	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7212	0.62728	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAC2	34622772	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	4.382000	0.59594	1.896000	0.54893	0.260000	0.18958	.		0.632	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993	Intron	C	37369246	A	C	37369246	5	2	230	1	0	0	0	0	0	0	1	0	15245	173	6	5	110	5	STAC2	17	37369246	Splice_Site	SNP	A	TCGA-B0-5812-01A-11D-1669-08		37369246	43825964	37	14007											
SLC16A5	9121	broad.mit.edu;hgsc.bcm.edu	37	17	73096901	73096901	+	Silent	SNP	A	A	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr17:73096901A>T	ENST00000450736.2	+	4	1558	c.1143A>T	c.(1141-1143)ccA>ccT	p.P381P	SLC16A5_ENST00000538213.2_Silent_p.P421P|SLC16A5_ENST00000329783.4_Silent_p.P381P|SLC16A5_ENST00000580123.1_Silent_p.P381P			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	381					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.P381P(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCATCTCCCCACCACTGGCCG	0.577																																																2	Substitution - coding silent(2)	kidney(2)											45	38	40					17																	73096901		2203	4300	6503	SO:0001819	synonymous_variant	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1143A>T	17.37:g.73096901A>T			B4E288	Silent	SNP	ENST00000450736.2	37	CCDS11713.1																																																																																				0.577	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		T	73096901	A	T	73096901	2	4	230	1	0	0	0	0	0	0	0	1	14417	146	6	5		5	SLC16A5	17	73096901	Silent	SNP	A	TCGA-B0-5812-01A-11D-1669-08	35727655	73096901	8098309	38	14008											
ARHGAP35	2909	broad.mit.edu;hgsc.bcm.edu	37	19	47422608	47422608	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr19:47422608G>A	ENST00000404338.3	+	1	676	c.676G>A	c.(676-678)Gtg>Atg	p.V226M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	226					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.V226M(2)									CCTCCAGGTTGTGGAGACCTC	0.443																																																2	Substitution - Missense(2)	kidney(2)											95	95	95					19																	47422608		1917	4131	6048	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.676G>A	19.37:g.47422608G>A	ENSP00000385720:p.Val226Met		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952263	0.53293	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.81078	-1.45	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	N	0.13327	0.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.85693	0.1308	10	0.87932	D	0	-26.5619	18.9906	0.92789	0.0:0.0:1.0:0.0	.	226	Q9NRY4-2	.	M	226	ENSP00000385720:V226M	ENSP00000324820:V226M	V	+	1	0	ARHGAP35	52114448	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.781000	0.75068	2.780000	0.95670	0.655000	0.94253	GTG		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		A	47422608	G	A	47422608	3	1	230	1	0	0	0	0	1	0	0	0	6797	1377	48	2	678	2	ARHGAP35	19	47422608	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08		47422608	11706375	39	14009											
ProSAPiP1	9762	broad.mit.edu;hgsc.bcm.edu	37	20	3146916	3146916	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr20:3146916T>A	ENST00000329152.3	-	2	1947	c.550A>T	c.(550-552)Aat>Tat	p.N184Y	LZTS3_ENST00000337576.5_Missense_Mutation_p.N184Y|LZTS3_ENST00000360342.3_Missense_Mutation_p.N184Y			O60299	LZTS3_HUMAN		184						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.N184Y(1)									GGAGTCCCATTGGTCTGCGGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											39	42	41					20																	3146916		2203	4300	6503	SO:0001583	missense	0																														ENST00000329152.3:c.550A>T	20.37:g.3146916T>A	ENSP00000332123:p.Asn184Tyr		A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002072	0.74932	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.34275	1.41;1.37;1.37	5.26	5.26	0.73747	.	0.265230	0.43416	D	0.000565	T	0.37265	0.0997	L	0.48642	1.525	0.46416	D	0.999033	P;P	0.49447	0.924;0.875	P;B	0.44772	0.46;0.271	T	0.13019	-1.0525	10	0.37606	T	0.19	-22.7097	15.1738	0.72896	0.0:0.0:0.0:1.0	.	184;184	O60299-2;O60299	.;PRIP1_HUMAN	Y	184	ENSP00000332123:N184Y;ENSP00000353496:N184Y;ENSP00000338166:N184Y	ENSP00000332123:N184Y	N	-	1	0	RP5-1187M17.10	3094916	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.068000	0.50018	1.984000	0.57885	0.459000	0.35465	AAT		0.607	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			A	3146916	T	A	3146916	3	1	230	1	0	0	0	0	1	0	0	0	12876	1812	63	5	1479	5	ProSAPiP1	20	3146916	Missense_Mutation	SNP	T	TCGA-B0-5812-01A-11D-1669-08		3146916	59878604	40	14010											
NCAM2	4685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	22664427	22664427	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr21:22664427G>C	ENST00000400546.1	+	5	734	c.485G>C	c.(484-486)cGg>cCg	p.R162P	NCAM2_ENST00000284894.7_Missense_Mutation_p.R20P|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.R187P	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	162	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R162P(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTTCCAGATCGGTTCGCTATG	0.398																																																1	Substitution - Missense(1)	kidney(1)											122	112	115					21																	22664427		1849	4100	5949	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.485G>C	21.37:g.22664427G>C	ENSP00000383392:p.Arg162Pro		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526310	0.85600	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.81078	1.04;-1.45;1.04	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92662	0.7668	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74674	0.973;0.984;0.982	D	0.94240	0.7484	10	0.87932	D	0	-11.846	18.2691	0.90062	0.0:0.0:1.0:0.0	.	187;20;162	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	P	162;20;187	ENSP00000383392:R162P;ENSP00000284894:R20P;ENSP00000441887:R187P	ENSP00000284894:R20P	R	+	2	0	NCAM2	21586298	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.205000	0.95048	2.733000	0.93635	0.655000	0.94253	CGG		0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		C	22664427	G	C	22664427	3	2	230	1	0	0	0	0	1	0	0	0	10205	1116	39	4	503	4	NCAM2	21	22664427	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08		22664427	25465468	41	14011											
ADAMTS5	11096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	28296852	28296852	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr21:28296852G>T	ENST00000284987.5	-	8	2434	c.2313C>A	c.(2311-2313)ttC>ttA	p.F771L	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	771	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F771L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AATAGGCAGTGAATCTAGTCT	0.428																																					Esophageal Squamous(53;683 1080 10100 14424 45938)											1	Substitution - Missense(1)	kidney(1)											163	162	162					21																	28296852		2203	4300	6503	SO:0001583	missense	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2313C>A	21.37:g.28296852G>T	ENSP00000284987:p.Phe771Leu		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023651	0.54683	.	.	ENSG00000154736	ENST00000284987	T	0.61980	0.06	5.93	5.0	0.66597	ADAM-TS Spacer 1 (1);	0.152162	0.64402	D	0.000010	T	0.47619	0.1455	N	0.22421	0.69	0.45194	D	0.998203	B	0.29552	0.248	B	0.30179	0.112	T	0.46816	-0.9164	10	0.45353	T	0.12	.	11.7861	0.52043	0.0676:0.1241:0.8083:0.0	.	771	Q9UNA0	ATS5_HUMAN	L	771	ENSP00000284987:F771L	ENSP00000284987:F771L	F	-	3	2	ADAMTS5	27218723	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.247000	0.65416	2.826000	0.97356	0.655000	0.94253	TTC		0.428	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			T	28296852	G	T	28296852	3	4	230	1	0	0	0	0	1	0	0	0	269	1281	45	4	483	4	ADAMTS5	21	28296852	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08	5632425	28296852	19833043	42	14012											
TCN2	6948	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	31018990	31018990	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chr22:31018990T>A	ENST00000215838.3	+	8	1636	c.1142T>A	c.(1141-1143)tTa>tAa	p.L381*	TCN2_ENST00000407817.3_Nonsense_Mutation_p.L354*|TCN2_ENST00000405742.3_Nonsense_Mutation_p.L377*			P20062	TCO2_HUMAN	transcobalamin II	381					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)	p.L381*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCCCCTACTTAACCTCCGTG	0.562																																																1	Substitution - Nonsense(1)	kidney(1)											96	88	91					22																	31018990		2203	4300	6503	SO:0001587	stop_gained	6948				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.1142T>A	22.37:g.31018990T>A	ENSP00000215838:p.Leu381*		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Nonsense_Mutation	SNP	ENST00000215838.3	37	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.265672	0.80358	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6794	13.1541	0.59508	0.0:0.0:0.0:1.0	.	.	.	.	X	381;377;354	.	ENSP00000215838:L381X	L	+	2	0	TCN2	29348990	0.972000	0.33761	1.000000	0.80357	0.266000	0.26442	4.319000	0.59197	2.097000	0.63578	0.477000	0.44152	TTA		0.562	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		A	31018990	T	A	31018990	4	1	230	1	0	0	0	0	0	1	0	0	15712	1764	61	5	1172	5	TCN2	22	31018990	Nonsense_Mutation	SNP	T	TCGA-B0-5812-01A-11D-1669-08		31018990	20285576	43	14013											
IGSF1	3547	broad.mit.edu	37	X	130409627	130409627	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5812-01A-11D-1669-08	TCGA-B0-5812-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6327ce2c-8a24-45b9-9577-7b7d7b603e68	d5b39631-2b9e-4aee-8943-b0c576dc3bd7	g.chrX:130409627G>T	ENST00000361420.3	-	16	3088	c.3009C>A	c.(3007-3009)caC>caA	p.H1003Q	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.H994Q|IGSF1_ENST00000370904.1_Missense_Mutation_p.H994Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.H1008Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1003	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.H1003Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTCCTTCTTTGTGCAGAATGT	0.527																																																2	Substitution - Missense(2)	kidney(2)											113	98	103					X																	130409627		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3009C>A	X.37:g.130409627G>T	ENSP00000355010:p.His1003Gln		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901242	0.33535	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.32	2.45	0.29901	Immunoglobulin-like fold (1);	0.341686	0.22142	N	0.064031	T	0.22820	0.0551	L	0.60455	1.87	0.26862	N	0.967927	D;P;D	0.63880	0.993;0.563;0.987	D;B;D	0.75020	0.972;0.387;0.985	T	0.03957	-1.0989	10	0.38643	T	0.18	.	6.9963	0.24784	0.096:0.3263:0.5777:0.0	.	994;447;1003	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Q	994;1003;994;1008	ENSP00000359947:H994Q;ENSP00000355010:H1003Q;ENSP00000359941:H994Q;ENSP00000359940:H1008Q	ENSP00000355010:H1003Q	H	-	3	2	IGSF1	130237308	1.000000	0.71417	0.997000	0.53966	0.554000	0.35429	0.669000	0.25142	0.242000	0.21303	0.600000	0.82982	CAC		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			T	130409627	G	T	130409627	3	4	230	1	0	0	0	0	1	0	0	0	7598	1368	48	4	1021	4	IGSF1	23	130409627	Missense_Mutation	SNP	G	TCGA-B0-5812-01A-11D-1669-08		130409627	24860933	44	14014											
ANGPTL3	27329	hgsc.bcm.edu	37	1	63066787	63066787	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr1:63066787T>A	ENST00000371129.3	+	3	721	c.641T>A	c.(640-642)aTt>aAt	p.I214N	DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	214					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						CCCACAGAAATTTCTCTATCT	0.338																																																0													92	90	91					1																	63066787		2203	4298	6501	SO:0001583	missense	27329			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"Fibrinogen C domain containing"	491	protein-coding gene	gene with protein product	"angiopoietin 5"	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.641T>A	chr1.hg19:g.63066787T>A	ENSP00000360170:p.Ile214Asn		A0JLS0|B1ALJ0|B2RCW1	Silent	SNP	ENST00000371129.3	hg19	CCDS622.1	.	.	.	.	.	.	.	.	.	.	T	6.726	0.502609	0.12822	.	.	ENSG00000132855	ENST00000371129	T	0.62498	0.02	5.36	-1.93	0.07594	.	1.409980	0.04232	N	0.335475	T	0.09555	0.0235	N	0.01576	-0.805	0.20764	N	0.999851	B	0.02656	0.0	B	0.01281	0.0	T	0.04413	-1.0953	10	0.17369	T	0.5	.	1.6612	0.02792	0.3425:0.1379:0.0856:0.4341	.	214	Q9Y5C1	ANGL3_HUMAN	N	214	ENSP00000360170:I214N	ENSP00000360170:I214N	I	+	2	0	ANGPTL3	62839375	0.740000	0.28207	0.994000	0.49952	0.801000	0.45260	0.181000	0.16880	-0.002000	0.14469	-0.649000	0.03915	ATT		0.338	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		A	63066787	T	A	63066787	3	1	231	1	0	0	0	0	1	0	0	0	615	1493	52	5	651	5	ANGPTL3	1	63066787	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08		63066787	186183834	1	14015											
ANKRD35	148741	hgsc.bcm.edu	37	1	145562384	145562384	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr1:145562384G>C	ENST00000355594.4	+	10	2159	c.2072G>C	c.(2071-2073)cGg>cCg	p.R691P		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	691										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGAAGCTGCGGAAGCTCCTG	0.632																																					Melanoma(9;127 754 22988 51047)											0													33	38	36					1																	145562384		2203	4300	6503	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2072G>C	chr1.hg19:g.145562384G>C	ENSP00000347802:p.Arg691Pro		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	hg19	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376931	0.42105	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.57107	0.42	4.97	4.06	0.47325	.	0.000000	0.45361	D	0.000361	T	0.42675	0.1213	M	0.70595	2.14	0.80722	D	1	P	0.49862	0.929	P	0.46510	0.519	T	0.48186	-0.9057	10	0.52906	T	0.07	-21.9317	9.1164	0.36760	0.0988:0.0:0.9012:0.0	.	691	Q8N283	ANR35_HUMAN	P	600;691	ENSP00000347802:R691P	ENSP00000347802:R691P	R	+	2	0	ANKRD35	144273741	0.998000	0.40836	0.991000	0.47740	0.842000	0.47809	4.005000	0.57075	1.319000	0.45190	0.563000	0.77884	CGG		0.632	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		C	145562384	G	C	145562384	3	2	231	1	0	0	0	0	1	0	0	0	664	1116	39	4	2110	4	ANKRD35	1	145562384	Missense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	82495597	145562384	103688237	2	14016											
ATP1B1	481	hgsc.bcm.edu	37	1	169094257	169094257	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr1:169094257T>G	ENST00000367816.1	+	4	891	c.362T>G	c.(361-363)aTg>aGg	p.M121R	ATP1B1_ENST00000499679.3_Missense_Mutation_p.M65R|ATP1B1_ENST00000367813.3_Missense_Mutation_p.M113R|ATP1B1_ENST00000367815.4_Missense_Mutation_p.M121R			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	121					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AGGGATGACATGATTTTTGAA	0.373																																																0													170	167	168					1																	169094257		2203	4300	6503	SO:0001583	missense	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.362T>G	chr1.hg19:g.169094257T>G	ENSP00000356790:p.Met121Arg		Q5TGZ3	Missense_Mutation	SNP	ENST00000367816.1	hg19	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	T	4.424	0.078374	0.08533	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.28255	1.63;1.63;1.62;1.63	5.57	5.57	0.84162	.	0.083753	0.85682	D	0.000000	T	0.12732	0.0309	L	0.54323	1.7	0.43830	D	0.996406	B	0.28233	0.204	B	0.24269	0.052	T	0.09037	-1.0693	9	0.15952	T	0.53	-21.6982	10.9096	0.47101	0.14:0.0:0.0:0.86	.	121	P05026	AT1B1_HUMAN	R	121;121;65;113	ENSP00000356790:M121R;ENSP00000356789:M121R;ENSP00000423450:M65R;ENSP00000356787:M113R	ENSP00000356787:M113R	M	+	2	0	ATP1B1	167360881	0.023000	0.18921	1.000000	0.80357	0.432000	0.31715	1.328000	0.33758	2.114000	0.64651	0.533000	0.62120	ATG		0.373	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			G	169094257	T	G	169094257	3	3	231	1	0	0	0	0	1	0	0	0	1132	1464	51	5	372	5	ATP1B1	1	169094257	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	23531873	169094257	80156364	3	14017											
ARID4B	51742	hgsc.bcm.edu	37	1	235386544	235386544	+	Silent	SNP	T	T	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr1:235386544T>C	ENST00000264183.3	-	13	1499	c.1002A>G	c.(1000-1002)ggA>ggG	p.G334G	ARID4B_ENST00000366603.2_Silent_p.G334G|ARID4B_ENST00000349213.3_Silent_p.G334G	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	334	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.|Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AATTTCGATATCCAAGTACAG	0.299																																																0													106	100	102					1																	235386544		2203	4298	6501	SO:0001819	synonymous_variant	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1002A>G	chr1.hg19:g.235386544T>C			A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	hg19	CCDS31061.1																																																																																				0.299	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		C	235386544	T	C	235386544	2	2	231	1	0	0	0	0	0	0	0	1	920	1422	50	3		3	ARID4B	1	235386544	Silent	SNP	T	TCGA-B1-5398-01A-02D-1589-08	66292287	235386544	13864077	4	14018											
PSME4	23198	hgsc.bcm.edu	37	2	54135515	54135515	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:54135515T>C	ENST00000404125.1	-	24	2781	c.2726A>G	c.(2725-2727)cAt>cGt	p.H909R	PSME4_ENST00000421748.2_Missense_Mutation_p.H53R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	909					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTCAAATTCATGCTTGTGAGA	0.338																																																0													57	57	57					2																	54135515		2203	4298	6501	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2726A>G	chr2.hg19:g.54135515T>C	ENSP00000384211:p.His909Arg		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	hg19	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409628	0.25465	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.10960	2.82;2.82	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.050889	0.85682	D	0.000000	T	0.09291	0.0229	L	0.29908	0.895	0.54753	D	0.999982	B;B;B	0.16603	0.007;0.001;0.018	B;B;B	0.12837	0.005;0.003;0.008	T	0.20706	-1.0267	10	0.16420	T	0.52	.	15.3474	0.74350	0.0:0.0:0.0:1.0	.	284;53;909	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	R	53;909	ENSP00000410830:H53R;ENSP00000384211:H909R	ENSP00000384211:H909R	H	-	2	0	PSME4	53989019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.033000	0.64146	2.012000	0.59069	0.533000	0.62120	CAT		0.338	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		C	54135515	T	C	54135515	3	2	231	1	0	0	0	0	1	0	0	0	12714	1464	51	3	2897	3	PSME4	2	54135515	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08		54135515	189063858	5	14019											
PCBP1	5093	hgsc.bcm.edu	37	2	70314950	70314950	+	Silent	SNP	A	A	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:70314950A>G	ENST00000303577.5	+	1	366	c.75A>G	c.(73-75)gtA>gtG	p.V25V	PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000434781.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	25	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GAAAGGAAGTAGGAAGCATCA	0.567																																					Colon(85;1146 1307 3484 18706 25380)											0													111	114	113					2																	70314950		2203	4300	6503	SO:0001819	synonymous_variant	5093				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein E1"	601209	"poly(rC)-binding protein 1"			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.75A>G	chr2.hg19:g.70314950A>G			Q13157|Q14975	Silent	SNP	ENST00000303577.5	hg19	CCDS1898.1																																																																																				0.567	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		G	70314950	A	G	70314950	2	3	231	1	0	0	0	0	0	0	0	1	11502	407	15	3		3	PCBP1	2	70314950	Silent	SNP	A	TCGA-B1-5398-01A-02D-1589-08	16179435	70314950	172884423	6	14020											
SCN1A	6323	hgsc.bcm.edu	37	2	166915109	166915109	+	Silent	SNP	C	C	T	rs121917959		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:166915109C>T	ENST00000303395.4	-	2	353	c.354G>A	c.(352-354)agG>agA	p.R118R	SCN1A_ENST00000409050.1_Silent_p.R118R|SCN1A_ENST00000423058.2_Silent_p.R118R|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.R118R			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	118			R -> S (in EIEE6; dbSNP:rs121917959). {ECO:0000269|PubMed:18413471}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAGCTATTTTCCTAAGAGGAT	0.338																																																0			GRCh37	CM081422	SCN1A	M	rs121917959						64	65	65					2																	166915109		2202	4298	6500	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.354G>A	chr2.hg19:g.166915109C>T			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	hg19	CCDS54413.1																																																																																				0.338	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		T	166915109	C	T	166915109	2	4	231	1	0	0	0	0	0	0	0	1	13920	854	30	2		2	SCN1A	2	166915109	Silent	SNP	C	TCGA-B1-5398-01A-02D-1589-08	96600159	166915109	76284264	7	14021											
UBR3	130507	hgsc.bcm.edu	37	2	170815017	170815017	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:170815017G>A	ENST00000272793.5	+	24	3665	c.3615G>A	c.(3613-3615)atG>atA	p.M1205I	UBR3_ENST00000418381.1_Missense_Mutation_p.M1205I			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1205					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AAAGCTTTATGGAAACTGCAA	0.343																																																0													95	101	99					2																	170815017		2203	4300	6503	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3615G>A	chr2.hg19:g.170815017G>A	ENSP00000272793:p.Met1205Ile		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.648848|4.648848	0.87958|0.87958	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381|ENST00000392632	T;T|.	0.52983|.	0.64;0.64|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75391|.	0.3843|.	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	P;P|.	0.50528|.	0.936;0.851|.	P;P|.	0.61201|.	0.885;0.838|.	T|.	0.70880|.	-0.4752|.	10|.	0.16420|.	T|.	0.52|.	.|.	20.5801|20.5801	0.99389|0.99389	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1205;1205|.	Q6ZT12;E7EVK3|.	UBR3_HUMAN;.|.	I|X	1205|263	ENSP00000272793:M1205I;ENSP00000396068:M1205I|.	ENSP00000272793:M1205I|.	M|W	+|+	3|2	0|0	UBR3|UBR3	170523263|170523263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.828000|9.828000	0.99408|0.99408	2.873000|2.873000	0.98535|0.98535	0.643000|0.643000	0.83706|0.83706	ATG|TGG		0.343	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		A	170815017	G	A	170815017	3	1	231	1	0	0	0	0	1	0	0	0	16908	1348	47	2	3709	2	UBR3	2	170815017	Missense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	3899908	170815017	72384356	8	14022											
SSFA2	6744	hgsc.bcm.edu	37	2	182765433	182765433	+	Silent	SNP	T	T	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:182765433T>C	ENST00000431877.2	+	7	693	c.514T>C	c.(514-516)Ttg>Ctg	p.L172L	SSFA2_ENST00000428267.2_Silent_p.L19L|SSFA2_ENST00000320370.7_Silent_p.L172L|SSFA2_ENST00000409001.1_Silent_p.L172L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	172						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGTTTCAGAATTGTTGGAACT	0.299																																																0													55	57	56					2																	182765433		2203	4299	6502	SO:0001819	synonymous_variant	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.514T>C	chr2.hg19:g.182765433T>C			A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP	ENST00000431877.2	hg19	CCDS46467.1																																																																																				0.299	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		C	182765433	T	C	182765433	2	2	231	1	0	0	0	0	0	0	0	1	15188	1490	52	3		3	SSFA2	2	182765433	Silent	SNP	T	TCGA-B1-5398-01A-02D-1589-08	11950416	182765433	60433940	9	14023											
AOX1	316	hgsc.bcm.edu	37	2	201478584	201478584	+	Silent	SNP	C	C	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:201478584C>T	ENST00000374700.2	+	15	1747	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	502					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATGAAGTCTCCCTTTTGGGCT	0.478																																																0													91	87	88					2																	201478584		2203	4300	6503	SO:0001819	synonymous_variant	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1506C>T	chr2.hg19:g.201478584C>T			O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	hg19	CCDS33360.1																																																																																				0.478	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		T	201478584	C	T	201478584	2	4	231	1	0	0	0	0	0	0	0	1	729	610	22	2		2	AOX1	2	201478584	Silent	SNP	C	TCGA-B1-5398-01A-02D-1589-08	18713151	201478584	41720789	10	14024											
DNAJB3	54578	hgsc.bcm.edu	37	2	234652372	234652372	+	Intron	SNP	A	A	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:234652372A>G	ENST00000305139.6	+	2	1000				UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609767.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GCGGTCATAGATATCGCGTTT	0.632																																																0													131	143	139					2																	234652372		2045	4204	6249	SO:0001627	intron_variant	414061			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23308A>G	chr2.hg19:g.234652372A>G			A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	hg19	CCDS2507.1																																																																																				0.632	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		G	234652372	A	G	234652372	1	3	231	0	1	0	0	0	0	0	0	0	4623	333	12	3		3	DNAJB3	2	234652372	Intron	SNP	A	TCGA-B1-5398-01A-02D-1589-08	33173788	234652372	8547001	11	14025											
SH3BP4	23677	hgsc.bcm.edu	37	2	235962373	235962373	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:235962373delC	ENST00000409212.1	+	6	3312	c.2805delC	c.(2803-2805)ctcfs	p.L935fs	SH3BP4_ENST00000344528.4_Frame_Shift_Del_p.L935fs|SH3BP4_ENST00000392011.2_Frame_Shift_Del_p.L935fs			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	935					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGAAGCACCTCACTGGGACTC	0.592																																																0													173	164	167					2																	235962373		2203	4300	6503	SO:0001589	frameshift_variant	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2805delC	chr2.hg19:g.235962373delC	ENSP00000386862:p.Leu935fs		O95082|Q309A3|Q53QD0|Q53TD1	Frame_Shift_Del	DEL	ENST00000409212.1	hg19	CCDS2513.1																																																																																				0.592	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			-	235962373	C	-	235962373	7	5	231	1	0	1	0	1	0	0	0	0	14252	813	29	0	2819	0	SH3BP4	2	235962373	Frame_Shift_Del	DEL	C	TCGA-B1-5398-01A-02D-1589-08	1310001	235962373	7237000	12	14026											
COL6A3	1293	hgsc.bcm.edu	37	2	238234213	238234213	+	Silent	SNP	A	A	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:238234213A>T	ENST00000295550.4	-	43	9935	c.9483T>A	c.(9481-9483)gtT>gtA	p.V3161V	COL6A3_ENST00000353578.4_Silent_p.V2955V|COL6A3_ENST00000473258.1_5'UTR|COL6A3_ENST00000347401.3_Silent_p.V2960V|COL6A3_ENST00000409809.1_Silent_p.V2955V|COL6A3_ENST00000472056.1_Silent_p.V2554V|COL6A3_ENST00000346358.4_Silent_p.V2961V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3161	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGGAGCGCAAACCTTTTCAC	0.383																																																0													178	181	180					2																	238234213		2203	4300	6503	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9483T>A	chr2.hg19:g.238234213A>T			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	hg19	CCDS33412.1																																																																																				0.383	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238234213	A	T	238234213	2	4	231	1	0	0	0	0	0	0	0	1	3703	1	1	5		5	COL6A3	2	238234213	Silent	SNP	A	TCGA-B1-5398-01A-02D-1589-08	2271840	238234213	4965160	13	14027											
PER2	8864	hgsc.bcm.edu	37	2	239184526	239184526	+	Silent	SNP	A	A	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:239184526A>C	ENST00000254657.3	-	4	585	c.306T>G	c.(304-306)tcT>tcG	p.S102S	PER2_ENST00000355768.2_Silent_p.S102S|PER2_ENST00000440245.1_Silent_p.S102S|PER2_ENST00000254658.3_Silent_p.S102S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	102					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCACTTTCGAAGACTGGTCGC	0.502																																																0													173	169	170					2																	239184526		2203	4300	6503	SO:0001819	synonymous_variant	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.306T>G	chr2.hg19:g.239184526A>C			A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	hg19	CCDS2528.1																																																																																				0.502	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		C	239184526	A	C	239184526	2	2	231	1	0	0	0	0	0	0	0	1	11732	59	3	5		5	PER2	2	239184526	Silent	SNP	A	TCGA-B1-5398-01A-02D-1589-08	950313	239184526	4014847	14	14028											
SCN11A	11280	hgsc.bcm.edu	37	3	38891987	38891988	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr3:38891987_38891988delGC	ENST00000302328.3	-	25	4509_4510	c.4311_4312delGC	c.(4309-4314)gtgcttfs	p.L1439fs	SCN11A_ENST00000444237.2_Frame_Shift_Del_p.L1439fs|SCN11A_ENST00000456224.3_Frame_Shift_Del_p.L1401fs|SCN11A_ENST00000450244.1_Frame_Shift_Del_p.L1439fs	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1439					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGAAAGAAGCACGACCACAC	0.347																																																0																																										SO:0001589	frameshift_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4311_4312delGC	chr3.hg19:g.38891987_38891988delGC	ENSP00000307599:p.Leu1439fs		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Frame_Shift_Del	DEL	ENST00000302328.3	hg19	CCDS33737.1																																																																																				0.347	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		-	38891988	GC	-	38891987	7	5	231	1	0	1	0	1	0	0	0	0	13919	971	34	0	1071	0	SCN11A	3	38891987	Frame_Shift_Del	DEL	GC	TCGA-B1-5398-01A-02D-1589-08		38891987	159130443	15	14029											
NDUFB5	4711	hgsc.bcm.edu	37	3	179334831	179334831	+	Splice_Site	SNP	A	A	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr3:179334831A>C	ENST00000259037.3	+	4	455	c.341A>C	c.(340-342)aAg>aCg	p.K114T	snoU13_ENST00000459278.1_RNA|NDUFB5_ENST00000493866.1_Splice_Site_p.K62T|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Splice_Site_p.K102T	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	114					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)			GAATATTATAAGGTTTGTATA	0.343																																																0													79	78	78					3																	179334831		2203	4300	6503	SO:0001630	splice_region_variant	4711			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.342+1A>C	chr3.hg19:g.179334831A>C			Q561V6	Missense_Mutation	SNP	ENST00000259037.3	hg19	CCDS3234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.66|15.66	2.899232|2.899232	0.52227|0.52227	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000259037;ENST00000493866;ENST00000472629;ENST00000471112|ENST00000482604	T;T;T;T|.	0.55413|.	0.52;0.52;0.52;0.52|.	5.54|5.54	4.37|4.37	0.52481|0.52481	.|.	0.044583|.	0.85682|.	D|.	0.000000|.	T|T	0.74275|0.74275	0.3695|0.3695	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;P|.	0.63046|.	0.992;0.933|.	D;P|.	0.63703|.	0.917;0.827|.	T|T	0.74466|0.74466	-0.3656|-0.3656	10|5	0.87932|.	D|.	0|.	-13.9029|-13.9029	7.2091|7.2091	0.25923|0.25923	0.776:0.1461:0.0779:0.0|0.776:0.1461:0.0779:0.0	.|.	62;114|.	Q561V6;O43674|.	.;NDUB5_HUMAN|.	T|R	114;62;102;35|131	ENSP00000259037:K114T;ENSP00000419656:K62T;ENSP00000419248:K102T;ENSP00000419501:K35T|.	ENSP00000259037:K114T|.	K|S	+|+	2|1	0|0	NDUFB5|NDUFB5	180817525|180817525	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.531000|0.531000	0.34715|0.34715	6.924000|6.924000	0.75823|0.75823	0.923000|0.923000	0.37045|0.37045	-0.304000|-0.304000	0.09214|0.09214	AAG|AGC		0.343	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492	Missense_Mutation	C	179334831	A	C	179334831	5	2	231	1	0	0	0	0	0	0	1	0	10286	86	3	5	355	5	NDUFB5	3	179334831	Splice_Site	SNP	A	TCGA-B1-5398-01A-02D-1589-08	140442844	179334831	18687599	16	14030											
C4orf35	85438	hgsc.bcm.edu	37	4	71201158	71201158	+	Frame_Shift_Del	DEL	T	T	-	rs367634444		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr4:71201158delT	ENST00000273936.5	+	1	476	c.402delT	c.(400-402)gatfs	p.D134fs		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	134					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTTTAATAGATTTTTCCACTG	0.383																																																0													54	54	54					4																	71201158		2203	4298	6501	SO:0001589	frameshift_variant	85438			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.402delT	chr4.hg19:g.71201158delT	ENSP00000273936:p.Asp134fs		B2RCB5|Q86UE0|Q96M17	Frame_Shift_Del	DEL	ENST00000273936.5	hg19	CCDS3539.1																																																																																				0.383	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		-	71201158	T	-	71201158	7	5	231	1	0	1	0	1	0	0	0	0	2267	1490	52	0	404	0	C4orf35	4	71201158	Frame_Shift_Del	DEL	T	TCGA-B1-5398-01A-02D-1589-08		71201158	119953118	17	14031											
ANKRD17	26057	hgsc.bcm.edu	37	4	74014608	74014608	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr4:74014608T>A	ENST00000358602.4	-	8	1605	c.1489A>T	c.(1489-1491)Aat>Tat	p.N497Y	ANKRD17_ENST00000509867.2_Missense_Mutation_p.N384Y|ANKRD17_ENST00000330838.6_Missense_Mutation_p.N497Y|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	497					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTTCATCATTGACCTCTTCC	0.443																																																0													115	97	103					4																	74014608		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1489A>T	chr4.hg19:g.74014608T>A	ENSP00000351416:p.Asn497Tyr		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	hg19	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059277	0.76074	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.16897	2.31;2.31;2.31	5.43	4.25	0.50352	Ankyrin repeat-containing domain (5);	0.000000	0.64402	D	0.000002	T	0.37128	0.0992	M	0.61703	1.905	0.30866	N	0.732937	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;0.999;1.0;0.999	T	0.40478	-0.9561	10	0.72032	D	0.01	.	11.4205	0.49978	0.0:0.071:0.0:0.929	.	82;497;497;497;384	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	Y	497;497;497;384;497	ENSP00000351416:N497Y;ENSP00000332265:N497Y;ENSP00000427151:N384Y	ENSP00000332265:N497Y	N	-	1	0	ANKRD17	74233472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.885000	0.87282	1.002000	0.39104	0.482000	0.46254	AAT		0.443	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		A	74014608	T	A	74014608	3	1	231	1	0	0	0	0	1	0	0	0	646	1812	63	5	6430	5	ANKRD17	4	74014608	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	2813450	74014608	117139668	18	14032											
SCD5	79966	hgsc.bcm.edu	37	4	83719607	83719607	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr4:83719607C>G	ENST00000319540.4	-	1	403	c.84G>C	c.(82-84)gaG>gaC	p.E28D	SCD5_ENST00000273908.4_Missense_Mutation_p.E28D|SCD5_ENST00000282709.4_Missense_Mutation_p.E28D	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	28					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.E28D(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CGCCGCCGCCCTCAGAGCTTT	0.692																																																2	Substitution - Missense(2)	lung(2)											21	23	22					4																	83719607		2200	4295	6495	SO:0001583	missense	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.84G>C	chr4.hg19:g.83719607C>G	ENSP00000316329:p.Glu28Asp		B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	hg19	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	9.274	1.046479	0.19748	.	.	ENSG00000145284	ENST00000319540;ENST00000273908;ENST00000282709	T	0.44083	0.93	4.24	2.39	0.29439	.	0.474937	0.20549	N	0.090143	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B;B;B	0.24721	0.034;0.11;0.008	B;B;B	0.19946	0.027;0.027;0.003	T	0.11867	-1.0570	10	0.16896	T	0.51	-2.1795	2.9623	0.05896	0.1795:0.542:0.1749:0.1035	.	28;28;28	Q9BSN4;Q86SK9-2;Q86SK9	.;.;SCD5_HUMAN	D	28	ENSP00000316329:E28D	ENSP00000273908:E28D	E	-	3	2	SCD5	83938631	0.000000	0.05858	0.008000	0.14137	0.176000	0.22953	-0.141000	0.10327	0.973000	0.38340	0.471000	0.43371	GAG		0.692	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		G	83719607	C	G	83719607	3	3	231	1	0	0	0	0	1	0	0	0	13893	680	24	4	1134	4	SCD5	4	83719607	Missense_Mutation	SNP	C	TCGA-B1-5398-01A-02D-1589-08	9704999	83719607	107434669	19	14033											
GUCY1B3	2983	hgsc.bcm.edu	37	4	156725753	156725753	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr4:156725753A>G	ENST00000264424.8	+	12	1645	c.1563A>G	c.(1561-1563)atA>atG	p.I521M	GUCY1B3_ENST00000503520.1_Missense_Mutation_p.I488M|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.I453M|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.I496M|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.I543M|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.I501M|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.I453M	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	521	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGATAACAATAGGGATACACA	0.373																																																0													114	117	116					4																	156725753		1863	4098	5961	SO:0001583	missense	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1563A>G	chr4.hg19:g.156725753A>G	ENSP00000264424:p.Ile521Met		B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	hg19	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181816	0.57800	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.54	-0.268	0.12934	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	H	0.94264	3.515	0.52501	D	0.999953	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.996;0.998;0.991;0.995	D	0.91851	0.5491	10	0.87932	D	0	.	10.0789	0.42377	0.3827:0.5019:0.0:0.1153	.	501;543;496;488;521	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	M	453;543;501;496;521;488;453	ENSP00000427226:I453M;ENSP00000426786:I543M;ENSP00000426319:I501M;ENSP00000422313:I496M;ENSP00000264424:I521M;ENSP00000420842:I488M;ENSP00000425065:I453M	ENSP00000264424:I521M	I	+	3	3	GUCY1B3	156945203	0.972000	0.33761	0.998000	0.56505	0.987000	0.75469	0.228000	0.17814	0.045000	0.15804	-0.323000	0.08544	ATA		0.373	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			G	156725753	A	G	156725753	3	3	231	1	0	0	0	0	1	0	0	0	6897	410	15	3	1609	3	GUCY1B3	4	156725753	Missense_Mutation	SNP	A	TCGA-B1-5398-01A-02D-1589-08	73006146	156725753	34428523	20	14034											
CCDC110	256309	hgsc.bcm.edu	37	4	186380443	186380443	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr4:186380443T>A	ENST00000307588.3	-	6	1373	c.1298A>T	c.(1297-1299)aAt>aTt	p.N433I	CCDC110_ENST00000393540.3_Missense_Mutation_p.N396I|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Missense_Mutation_p.N433I	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	433						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTAGGTAATTCTGTAAGTA	0.318																																																0													94	98	97					4																	186380443		2203	4297	6500	SO:0001583	missense	256309			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1298A>T	chr4.hg19:g.186380443T>A	ENSP00000306776:p.Asn433Ile		Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	hg19	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046799	0.55110	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.08807	3.06;3.05;3.05	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.24699	0.0599	M	0.66939	2.045	0.30797	N	0.740247	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.12167	-1.0558	10	0.51188	T	0.08	-18.2543	10.1029	0.42515	0.1493:0.0:0.0:0.8507	.	433;396;433	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	I	396;433;433	ENSP00000377172:N396I;ENSP00000306776:N433I;ENSP00000427246:N433I	ENSP00000306776:N433I	N	-	2	0	CCDC110	186617437	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.671000	0.54576	2.161000	0.67846	0.533000	0.62120	AAT		0.318	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		A	186380443	T	A	186380443	3	1	231	1	0	0	0	0	1	0	0	0	2749	1493	52	5	1211	5	CCDC110	4	186380443	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	29654690	186380443	4773833	21	14035											
PDZD2	23037	hgsc.bcm.edu	37	5	31983432	31983432	+	Silent	SNP	C	C	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:31983432C>G	ENST00000438447.1	+	3	1036	c.648C>G	c.(646-648)acC>acG	p.T216T	PDZD2_ENST00000282493.3_Silent_p.T216T			O15018	PDZD2_HUMAN	PDZ domain containing 2	216					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAAACGAACCAGAAAGTTTG	0.557																																																0													87	85	85					5																	31983432		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.648C>G	chr5.hg19:g.31983432C>G			Q9BXD4	Silent	SNP	ENST00000438447.1	hg19	CCDS34137.1																																																																																				0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			G	31983432	C	G	31983432	2	3	231	1	0	0	0	0	0	0	0	1	11703	581	21	4		4	PDZD2	5	31983432	Silent	SNP	C	TCGA-B1-5398-01A-02D-1589-08		31983432	148931828	22	14036											
ISL1	3670	hgsc.bcm.edu	37	5	50683584	50683584	+	Splice_Site	SNP	G	G	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:50683584G>T	ENST00000230658.7	+	3	1063		c.e3+1		ISL1_ENST00000511384.1_Splice_Site|ISL1_ENST00000505475.2_Splice_Site	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1						atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CAAATGGCAGGTACTCCTCTG	0.637																																																0													23	25	24					5																	50683584		2037	4162	6199	SO:0001630	splice_region_variant	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.478+1G>T	chr5.hg19:g.50683584G>T			P20663|P47894	Splice_Site	SNP	ENST00000230658.7	hg19	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649867	0.87958	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384;ENST00000505475	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2404	0.93879	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ISL1	50719341	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.502000	0.81614	2.538000	0.85594	0.456000	0.33151	.		0.637	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202	Intron	T	50683584	G	T	50683584	5	4	231	1	0	0	0	0	0	0	1	0	7858	1275	44	4	489	4	ISL1	5	50683584	Splice_Site	SNP	G	TCGA-B1-5398-01A-02D-1589-08	18700152	50683584	130231676	23	14037											
ZNF366	167465	hgsc.bcm.edu	37	5	71739940	71739940	+	Nonsense_Mutation	SNP	G	G	C	rs373642159		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:71739940G>C	ENST00000318442.5	-	5	2368	c.1878C>G	c.(1876-1878)taC>taG	p.Y626*	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	626	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTCCACCTCGTAGCAGTTAT	0.667																																																0													94	108	103					5																	71739940		2203	4300	6503	SO:0001587	stop_gained	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1878C>G	chr5.hg19:g.71739940G>C	ENSP00000313158:p.Tyr626*		Q5HYI9|Q7RTV4	Nonsense_Mutation	SNP	ENST00000318442.5	hg19	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	38	7.253100	0.98164	.	.	ENSG00000178175	ENST00000318442	.	.	.	5.78	-7.21	0.01490	.	0.868154	0.10255	N	0.696665	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.173	17.8813	0.88841	0.6695:0.0:0.3305:0.0	.	.	.	.	X	626	.	ENSP00000313158:Y626X	Y	-	3	2	ZNF366	71775696	0.385000	0.25172	0.000000	0.03702	0.206000	0.24218	-0.180000	0.09754	-1.491000	0.01840	-0.136000	0.14681	TAC		0.667	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			C	71739940	G	C	71739940	4	2	231	1	0	0	0	0	0	1	0	0	17875	1140	40	4	360	4	ZNF366	5	71739940	Nonsense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	21056356	71739940	109175320	24	14038											
PCDHA8	56140	hgsc.bcm.edu	37	5	140222316	140222316	+	Silent	SNP	G	G	C	rs202126810		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:140222316G>C	ENST00000531613.1	+	1	1410	c.1410G>C	c.(1408-1410)ccG>ccC	p.P470P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P470P|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCCGCCGGGCTGCCACA	0.672																																																0													38	43	41					5																	140222316		2193	4252	6445	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1410G>C	chr5.hg19:g.140222316G>C			B9EGT7|O75281	Silent	SNP	ENST00000531613.1	hg19	CCDS54919.1																																																																																				0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		C	140222316	G	C	140222316	2	2	231	1	0	0	0	0	0	0	0	1	11532	1103	39	4		4	PCDHA8	5	140222316	Silent	SNP	G	TCGA-B1-5398-01A-02D-1589-08	68482376	140222316	40692944	25	14039											
ARHGAP26	23092	hgsc.bcm.edu	37	5	142513635	142513635	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:142513635T>A	ENST00000274498.4	+	19	2180	c.1802T>A	c.(1801-1803)cTg>cAg	p.L601Q	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.L601Q	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	601	Ser-rich.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGAGGCCCCTGACGCTCTTC	0.582																																																0													129	110	116					5																	142513635		2203	4300	6503	SO:0001583	missense	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1802T>A	chr5.hg19:g.142513635T>A	ENSP00000274498:p.Leu601Gln		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	hg19	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.4|24.4	4.531454|4.531454	0.85706|0.85706	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668|ENST00000443674;ENST00000418236	T;T|.	0.09630|.	2.96;2.97|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.55878|.	0.1948|.	L|L	0.29908|0.29908	0.895|0.895	0.51767|0.51767	D|D	0.99993|0.99993	D;D;D|.	0.76494|.	0.998;0.994;0.999|.	D;P;D|.	0.87578|.	0.995;0.852;0.998|.	T|.	0.52298|.	-0.8594|.	10|.	0.42905|.	T|.	0.14|.	.|.	15.3985|15.3985	0.74816|0.74816	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	601;174;601|.	Q9UNA1;B3KT96;Q9UNA1-2|.	RHG26_HUMAN;.;.|.	Q|R	601;601;174|220;173	ENSP00000274498:L601Q;ENSP00000367243:L601Q|.	ENSP00000274498:L601Q|.	L|X	+|+	2|1	0|0	ARHGAP26|ARHGAP26	142493828|142493828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	5.763000|5.763000	0.68818|0.68818	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	CTG|TGA		0.582	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		A	142513635	T	A	142513635	3	1	231	1	0	0	0	0	1	0	0	0	875	1580	55	5	1876	5	ARHGAP26	5	142513635	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	2291319	142513635	38401625	26	14040											
RBM27	54439	hgsc.bcm.edu	37	5	145641187	145641187	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:145641187T>G	ENST00000265271.5	+	13	2174	c.2008T>G	c.(2008-2010)Ttg>Gtg	p.L670V	RBM27_ENST00000506502.1_Missense_Mutation_p.L615V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	670	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTCGAGTCTTGTGGCATAG	0.478																																																0													174	156	161					5																	145641187		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2008T>G	chr5.hg19:g.145641187T>G	ENSP00000265271:p.Leu670Val		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	hg19	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473230	0.43942	.	.	ENSG00000091009	ENST00000265271	T	0.44083	0.93	5.5	-1.73	0.08081	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.106316	0.40222	N	0.001141	T	0.30634	0.0771	N	0.19112	0.55	0.09310	N	1	P;P	0.41748	0.568;0.761	B;P	0.45310	0.301;0.476	T	0.33701	-0.9858	10	0.66056	D	0.02	-6.6533	11.6531	0.51301	0.0:0.4781:0.0:0.5219	.	670;615	Q9P2N5;B3KY61	RBM27_HUMAN;.	V	670	ENSP00000265271:L670V	ENSP00000265271:L670V	L	+	1	2	RBM27	145621380	0.692000	0.27719	0.167000	0.22817	0.977000	0.68977	1.212000	0.32394	-0.779000	0.04560	-0.379000	0.06801	TTG		0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		G	145641187	T	G	145641187	3	3	231	1	0	0	0	0	1	0	0	0	13133	1606	56	5	2058	5	RBM27	5	145641187	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	3127552	145641187	35274073	27	14041											
CPEB4	80315	hgsc.bcm.edu	37	5	173370039	173370039	+	Nonsense_Mutation	SNP	T	T	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:173370039T>G	ENST00000265085.5	+	4	2723	c.1269T>G	c.(1267-1269)taT>taG	p.Y423*	CPEB4_ENST00000520867.1_Intron|CPEB4_ENST00000522336.1_Intron|CPEB4_ENST00000334035.5_Nonsense_Mutation_p.Y406*|CPEB4_ENST00000517880.1_Intron|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000519835.1_Intron	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	423					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAAGGACATATGGGCGAAGGA	0.348																																																0													187	195	192					5																	173370039		2203	4300	6503	SO:0001587	stop_gained	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1269T>G	chr5.hg19:g.173370039T>G	ENSP00000265085:p.Tyr423*		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Nonsense_Mutation	SNP	ENST00000265085.5	hg19	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	T	41	8.729920	0.98931	.	.	ENSG00000113742	ENST00000265085;ENST00000334035	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6823	16.2484	0.82467	0.0:0.0:0.0:1.0	.	.	.	.	X	423;406	.	ENSP00000265085:Y423X	Y	+	3	2	CPEB4	173302645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.965000	0.87945	2.291000	0.77112	0.533000	0.62120	TAT		0.348	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		G	173370039	T	G	173370039	4	3	231	1	0	0	0	0	0	1	0	0	3805	1471	51	5	1283	5	CPEB4	5	173370039	Nonsense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	27728852	173370039	7545221	28	14042											
MAK	4117	hgsc.bcm.edu	37	6	10796389	10796389	+	Missense_Mutation	SNP	C	C	G	rs201812469	byFrequency	TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:10796389C>G	ENST00000313243.2	-	9	1367	c.985G>C	c.(985-987)Gat>Cat	p.D329H	MAK_ENST00000354489.2_Missense_Mutation_p.D329H|MAK_ENST00000536370.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.D329H|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Missense_Mutation_p.D329H			P20794	MAK_HUMAN	male germ cell-associated kinase	329	Glu/Pro-rich.		D -> E (in dbSNP:rs17579447).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ACAACCTGATCGATTATATCC	0.483																																																0													120	124	123					6																	10796389		2203	4300	6503	SO:0001583	missense	4117				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.985G>C	chr6.hg19:g.10796389C>G	ENSP00000313021:p.Asp329His		F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	hg19	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380100	0.42207	.	.	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030	T;T;T	0.72167	-0.63;-0.63;-0.63	4.96	4.09	0.47781	.	0.539095	0.20661	N	0.088033	T	0.51024	0.1650	L	0.32530	0.975	0.45108	D	0.998127	P	0.46512	0.879	P	0.47673	0.554	T	0.53878	-0.8376	10	0.42905	T	0.14	.	9.0292	0.36249	0.0:0.7735:0.1482:0.0784	.	329	P20794	MAK_HUMAN	H	329	ENSP00000313021:D329H;ENSP00000346484:D329H;ENSP00000442250:D329H	ENSP00000313021:D329H	D	-	1	0	MAK	10904375	0.415000	0.25416	0.068000	0.19968	0.049000	0.14656	1.369000	0.34227	1.220000	0.43490	0.448000	0.29417	GAT		0.483	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		G	10796389	C	G	10796389	3	3	231	1	0	0	0	0	1	0	0	0	9199	884	31	4	910	4	MAK	6	10796389	Missense_Mutation	SNP	C	TCGA-B1-5398-01A-02D-1589-08		10796389	160318678	29	14043											
MDC1	9656	hgsc.bcm.edu	37	6	30679993	30679993	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:30679993C>T	ENST00000376406.3	-	5	2373	c.1726G>A	c.(1726-1728)Gac>Aac	p.D576N	MDC1_ENST00000376405.2_Missense_Mutation_p.D576N|MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	576					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GTTTCACAGTCCCCATGCAGA	0.542								Other conserved DNA damage response genes																																								0													58	57	58					6																	30679993		1509	2709	4218	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1726G>A	chr6.hg19:g.30679993C>T	ENSP00000365588:p.Asp576Asn		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	hg19	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	8.320	0.824001	0.16678	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.03553	3.97;3.89	4.32	1.5	0.22942	.	.	.	.	.	T	0.00875	0.0029	L	0.44542	1.39	0.09310	N	1	B;B;P;B	0.37466	0.037;0.054;0.596;0.003	B;B;B;B	0.35470	0.049;0.028;0.203;0.018	T	0.45906	-0.9229	9	0.15499	T	0.54	-2.5972	2.8168	0.05458	0.1874:0.5287:0.1815:0.1023	.	576;448;576;576	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	N	576;576;576;448	ENSP00000365588:D576N;ENSP00000365587:D576N	ENSP00000365587:D576N	D	-	1	0	MDC1	30787972	0.031000	0.19500	0.001000	0.08648	0.006000	0.05464	1.511000	0.35801	0.106000	0.17784	-0.467000	0.05162	GAC		0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		T	30679993	C	T	30679993	3	4	231	1	0	0	0	0	1	0	0	0	9405	855	30	2	4587	2	MDC1	6	30679993	Missense_Mutation	SNP	C	TCGA-B1-5398-01A-02D-1589-08	19883604	30679993	140435074	30	14044											
SLC39A7	7922	hgsc.bcm.edu	37	6	33169242	33169242	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:33169242G>C	ENST00000374677.3	+	1	593	c.220G>C	c.(220-222)Gga>Cga	p.G74R	RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.G74R|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000374680.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	74	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CATCTGGCATGGACATACCCA	0.552																																																0													122	123	122					6																	33169242		2134	4244	6378	SO:0001583	missense	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.220G>C	chr6.hg19:g.33169242G>C	ENSP00000363809:p.Gly74Arg		B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	hg19	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840008	0.51057	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000374677	T;T	0.60920	0.15;0.15	4.75	4.75	0.60458	.	0.374050	0.27802	N	0.017796	T	0.30510	0.0767	L	0.27053	0.805	0.45946	D	0.99877	P	0.48162	0.906	B	0.44163	0.443	T	0.06643	-1.0815	10	0.13853	T	0.58	-11.1163	13.1907	0.59709	0.0:0.0:1.0:0.0	.	74	Q92504	S39A7_HUMAN	R	74;55;74	ENSP00000363807:G74R;ENSP00000363809:G74R	ENSP00000363807:G74R	G	+	1	0	SLC39A7	33277220	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.576000	0.53878	2.507000	0.84556	0.289000	0.19496	GGA		0.552	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		C	33169242	G	C	33169242	3	2	231	1	0	0	0	0	1	0	0	0	14629	1349	47	4	222	4	SLC39A7	6	33169242	Missense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	2489249	33169242	137945825	31	14045											
LMBRD1	55788	hgsc.bcm.edu	37	6	70451754	70451755	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:70451754_70451755insAA	ENST00000370577.3	-	6	717_718	c.488_489insTT	c.(487-489)ttgfs	p.L163fs	LMBRD1_ENST00000370570.1_Frame_Shift_Ins_p.L90fs	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	163					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGGGAACATTCAATGGAACAAA	0.267																																																0																																										SO:0001589	frameshift_variant	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.487_488dupTT	chr6.hg19:g.70451755_70451756dupAA	ENSP00000359609:p.Leu163fs		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Frame_Shift_Ins	INS	ENST00000370577.3	hg19	CCDS4969.1																																																																																				0.267	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		AA	70451755	-	AA	70451754	7	5	231	1	0	1	1	0	0	0	0	0	8844	825	29	0	1177	0	LMBRD1	6	70451754	Frame_Shift_Ins	INS	-	TCGA-B1-5398-01A-02D-1589-08	37282512	70451754	100663313	32	14046											
TPBG	7162	hgsc.bcm.edu	37	6	83075159	83075159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:83075159delG	ENST00000369750.3	+	2	1098	c.481delG	c.(481-483)gctfs	p.A161fs	TPBG_ENST00000543496.1_Frame_Shift_Del_p.A161fs|TPBG_ENST00000535040.1_Frame_Shift_Del_p.A161fs			Q13641	TPBG_HUMAN	trophoblast glycoprotein	161					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CAGTCCCTTCGCTTTCTCGGG	0.667																																																0													76	82	80					6																	83075159		2203	4300	6503	SO:0001589	frameshift_variant	7162			AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.481delG	chr6.hg19:g.83075159delG	ENSP00000358765:p.Ala161fs		A8K555	Frame_Shift_Del	DEL	ENST00000369750.3	hg19	CCDS4995.1																																																																																				0.667	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			-	83075159	G	-	83075159	7	5	231	1	0	1	0	1	0	0	0	0	16399	1087	38	0	483	0	TPBG	6	83075159	Frame_Shift_Del	DEL	G	TCGA-B1-5398-01A-02D-1589-08	12623405	83075159	88039908	33	14047											
FIG4	9896	hgsc.bcm.edu	37	6	110086287	110086287	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:110086287A>T	ENST00000230124.3	+	14	1630	c.1506A>T	c.(1504-1506)aaA>aaT	p.K502N	FIG4_ENST00000441478.2_Missense_Mutation_p.K225N	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	502	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGGTGGGAAAATGTGCTCTGG	0.393																																																0													162	144	150					6																	110086287		2203	4300	6503	SO:0001583	missense	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1506A>T	chr6.hg19:g.110086287A>T	ENSP00000230124:p.Lys502Asn		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	hg19	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709792	0.68730	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.57436	1.65;0.4	5.22	-7.1	0.01547	Synaptojanin, N-terminal (1);	0.052794	0.64402	D	0.000001	T	0.57198	0.2037	M	0.85859	2.78	0.52501	D	0.999955	D;D	0.64830	0.994;0.973	P;P	0.59424	0.857;0.496	T	0.76130	-0.3072	10	0.59425	D	0.04	-25.2243	16.78	0.85561	0.4032:0.0:0.5968:0.0	.	225;502	F5H8L9;Q92562	.;FIG4_HUMAN	N	225;502	ENSP00000399443:K225N;ENSP00000230124:K502N	ENSP00000230124:K502N	K	+	3	2	FIG4	110192980	0.983000	0.35010	0.502000	0.27614	0.869000	0.49853	0.299000	0.19138	-1.402000	0.02056	-0.924000	0.02725	AAA		0.393	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		T	110086287	A	T	110086287	3	4	231	1	0	0	0	0	1	0	0	0	5890	98	4	5	1560	5	FIG4	6	110086287	Missense_Mutation	SNP	A	TCGA-B1-5398-01A-02D-1589-08	27011128	110086287	61028780	34	14048											
AGR2	10551	hgsc.bcm.edu	37	7	16837318	16837319	+	Splice_Site	DNP	AC	AC	GA	rs571596748		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:16837318_16837319AC>GA	ENST00000419304.2	-	6	483	c.331_331GT>TC	c.(331-333)GTta>TCtta	p.V111S	AGR2_ENST00000401412.1_Splice_Site_p.V111S|AGR2_ENST00000419572.2_Splice_Site_p.V131S	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	111					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GTTGTTTCATACTAAAATAAAA	0.381																																																0																																										SO:0001630	splice_region_variant	10551			AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"Protein disulfide isomerases"	328	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 17"	606358	"anterior gradient 2 homolog (Xenopus laevis)"			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.331_331delinsGA	chr7.hg19:g.16837318_16837319delinsGA				Missense_Mutation|Splice_Site	SNP	ENST00000419304.2	hg19	CCDS5364.1																																																																																				0.381	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2	NM_006408	Missense_Mutation	GA	16837319	AC	GA	16837318	5	3	231	1	0	0	0	0	0	0	1	0	395	405	14	3	208	3	AGR2	7	16837318	Splice_Site	DNP	AC	TCGA-B1-5398-01A-02D-1589-08		16837318	142301345	35	14049											
ABCB5	340273	hgsc.bcm.edu	37	7	20778604	20778604	+	Splice_Site	SNP	A	A	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:20778604A>G	ENST00000404938.2	+	24	3519		c.e24-1		ABCB5_ENST00000258738.6_Splice_Site	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATCTTTTGATAGAGTTTTTAC	0.393																																																0													59	57	58					7																	20778604		2203	4300	6503	SO:0001630	splice_region_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2868-1A>G	chr7.hg19:g.20778604A>G			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Splice_Site	SNP	ENST00000404938.2	hg19	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236102	0.39498	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9637	0.58472	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCB5	20745129	1.000000	0.71417	0.931000	0.37212	0.329000	0.28539	8.421000	0.90259	2.238000	0.73509	0.397000	0.26171	.		0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	Intron	G	20778604	A	G	20778604	5	3	231	1	0	0	0	0	0	0	1	0	44	434	15	3	2997	3	ABCB5	7	20778604	Splice_Site	SNP	A	TCGA-B1-5398-01A-02D-1589-08	3941286	20778604	138360059	36	14050											
SBDS	51119	hgsc.bcm.edu	37	7	66459200	66459200	+	Splice_Site	SNP	T	T	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:66459200T>C	ENST00000246868.2	-	2	440	c.257A>G	c.(256-258)cAg>cGg	p.Q86R	TYW1_ENST00000359626.5_5'Flank	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	86					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GTTACCCACCTGCTTACAGAT	0.378			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome																													yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0													153	133	139					7																	66459200		2203	4300	6503	SO:0001630	splice_region_variant	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.258+1A>G	chr7.hg19:g.66459200T>C			A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	ENST00000246868.2	hg19	CCDS5537.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209588	0.58343	.	.	ENSG00000126524	ENST00000246868	D	0.96011	-3.88	4.73	4.73	0.59995	Ribosome maturation protein SBDS, N-terminal (2);	0.104529	0.64402	D	0.000002	D	0.92886	0.7737	L	0.45422	1.42	0.58432	D	0.999999	B	0.15930	0.015	B	0.31016	0.123	D	0.89696	0.3901	10	0.32370	T	0.25	-14.8213	12.2034	0.54339	0.0:0.0:0.0:1.0	.	86	Q9Y3A5	SBDS_HUMAN	R	86	ENSP00000246868:Q86R	ENSP00000246868:Q86R	Q	-	2	0	SBDS	66096635	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.470000	0.53100	1.998000	0.58463	0.459000	0.35465	CAG		0.378	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038	Missense_Mutation	C	66459200	T	C	66459200	5	2	231	1	0	0	0	0	0	0	1	0	13863	1594	55	3	511	3	SBDS	7	66459200	Splice_Site	SNP	T	TCGA-B1-5398-01A-02D-1589-08	45680596	66459200	92679463	37	14051											
GPR22	2845	hgsc.bcm.edu	37	7	107115465	107115465	+	Silent	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:107115465T>A	ENST00000304402.4	+	3	2303	c.960T>A	c.(958-960)tcT>tcA	p.S320S	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	320					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TGATTATTTCTACATTTCTTC	0.373																																																0													112	115	114					7																	107115465		2203	4300	6503	SO:0001819	synonymous_variant	2845			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"GPCR / Class A : Orphans"	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.960T>A	chr7.hg19:g.107115465T>A			O14554	Silent	SNP	ENST00000304402.4	hg19	CCDS5744.1																																																																																				0.373	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			A	107115465	T	A	107115465	2	1	231	1	0	0	0	0	0	0	0	1	6684	1509	53	5		5	GPR22	7	107115465	Silent	SNP	T	TCGA-B1-5398-01A-02D-1589-08	40656265	107115465	52023198	38	14052											
IQUB	154865	hgsc.bcm.edu	37	7	123136764	123136764	+	Missense_Mutation	SNP	T	T	C	rs567499713		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:123136764T>C	ENST00000466202.1	-	7	1796	c.1220A>G	c.(1219-1221)tAt>tGt	p.Y407C	IQUB_ENST00000434450.1_Missense_Mutation_p.Y407C|IQUB_ENST00000324698.6_Missense_Mutation_p.Y407C	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	407					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TAATGCATTATAAAGAAATTC	0.308													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16913	0.0		0.0	False		,,,				2504	0.0															0													63	60	61					7																	123136764		2203	4298	6501	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1220A>G	chr7.hg19:g.123136764T>C	ENSP00000417769:p.Tyr407Cys		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	hg19	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.680750	0.29872	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.58652	1.37;1.37;0.32	5.17	0.946	0.19549	.	0.119152	0.64402	D	0.000016	T	0.73705	0.3621	M	0.83692	2.655	0.45295	D	0.998293	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.969	T	0.75434	-0.3319	10	0.87932	D	0	.	10.8458	0.46743	0.3381:0.0:0.0:0.6619	.	407;407	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	C	407	ENSP00000417769:Y407C;ENSP00000324882:Y407C;ENSP00000388498:Y407C	ENSP00000324882:Y407C	Y	-	2	0	IQUB	122924000	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	1.936000	0.40183	0.309000	0.22966	0.533000	0.62120	TAT		0.308	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		C	123136764	T	C	123136764	3	2	231	1	0	0	0	0	1	0	0	0	7822	1406	49	3	1183	3	IQUB	7	123136764	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	16021299	123136764	36001899	39	14053											
BRAF	673	hgsc.bcm.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1742A>G	c.(1741-1743)aAt>aGt	p.N581S		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> D (in CFC1). {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262}.|N -> S (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	AAGAAATATATCTGAGGTGTA	0.358		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	10	Substitution - Missense(10)	large_intestine(3)|lung(3)|skin(2)|ovary(1)|soft_tissue(1)											86	83	84					7																	140453193		2203	4298	6501	SO:0001630	splice_region_variant	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1742-1A>G	chr7.hg19:g.140453193T>C			A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	hg19	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.68|17.68	3.450518|3.450518	0.63290|0.63290	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.99803	.|-6.82	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99864|0.99864	0.9936|0.9936	H|H	0.96970|0.96970	3.915|3.915	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.96655|0.96655	0.9484|0.9484	5|10	.|0.59425	.|D	.|0.04	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|581	.|P15056	.|BRAF_HUMAN	V|S	189|581	.|ENSP00000288602:N581S	.|ENSP00000288602:N581S	I|N	-|-	1|2	0|0	BRAF|BRAF	140099662|140099662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	ATA|AAT		0.358	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	Missense_Mutation	C	140453193	T	C	140453193	5	2	231	1	0	0	0	0	0	0	1	0	1498	1449	50	3	574	3	BRAF	7	140453193	Splice_Site	SNP	T	TCGA-B1-5398-01A-02D-1589-08	17316429	140453193	18685470	40	14054											
KIF27	55582	hgsc.bcm.edu	37	9	86485505	86485505	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr9:86485505T>A	ENST00000297814.2	-	12	2829	c.2686A>T	c.(2686-2688)Aaa>Taa	p.K896*	KIF27_ENST00000334204.2_Intron|KIF27_ENST00000413982.1_Nonsense_Mutation_p.K830*|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	896					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCTCAGCTTTCGGTTTTAGA	0.363																																																0													93	88	90					9																	86485505		2202	4300	6502	SO:0001587	stop_gained	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2686A>T	chr9.hg19:g.86485505T>A	ENSP00000297814:p.Lys896*		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Nonsense_Mutation	SNP	ENST00000297814.2	hg19	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.962159	0.92791	.	.	ENSG00000165115	ENST00000297814;ENST00000413982	.	.	.	3.74	3.74	0.42951	.	0.000000	0.52532	U	0.000067	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9954	0.36050	0.0:0.0:0.0:1.0	.	.	.	.	X	896;830	.	ENSP00000297814:K896X	K	-	1	0	KIF27	85675325	0.392000	0.25229	0.385000	0.26158	0.016000	0.09150	0.777000	0.26718	1.682000	0.51000	0.240000	0.17902	AAA		0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		A	86485505	T	A	86485505	4	1	231	1	0	0	0	0	0	1	0	0	8298	1792	62	5	1547	5	KIF27	9	86485505	Nonsense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08		86485505	54727926	41	14055											
DAPK1	1612	hgsc.bcm.edu	37	9	90254289	90254289	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr9:90254289G>C	ENST00000408954.3	+	5	779	c.444G>C	c.(442-444)ttG>ttC	p.L148F	DAPK1_ENST00000469640.2_Missense_Mutation_p.L148F|DAPK1_ENST00000358077.5_Missense_Mutation_p.L148F|DAPK1_ENST00000491893.1_Missense_Mutation_p.L148F|DAPK1_ENST00000472284.1_Missense_Mutation_p.L148F	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TAATGCTTTTGGATAGAAATG	0.363									Chronic Lymphocytic Leukemia, Familial Clustering of																																							0													86	82	83					9																	90254289		1807	4078	5885	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.444G>C	chr9.hg19:g.90254289G>C	ENSP00000386135:p.Leu148Phe		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	hg19	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.264980	0.59431	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.42	3.59	0.41128	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40728	N	0.001036	T	0.61714	0.2369	N	0.17800	0.525	0.58432	D	0.999993	P;P;D	0.76494	0.838;0.93;0.999	B;P;D	0.81914	0.41;0.51;0.995	T	0.62258	-0.6892	10	0.59425	D	0.04	.	7.0523	0.25079	0.1427:0.0:0.7183:0.139	.	148;148;148	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	F	148	ENSP00000350785:L148F;ENSP00000417076:L148F;ENSP00000418885:L148F;ENSP00000386135:L148F;ENSP00000419026:L148F	ENSP00000350785:L148F	L	+	3	2	DAPK1	89444109	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.692000	0.47018	0.850000	0.35239	-0.244000	0.11960	TTG		0.363	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		C	90254289	G	C	90254289	3	2	231	1	0	0	0	0	1	0	0	0	4237	1339	47	4	458	4	DAPK1	9	90254289	Missense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	3768784	90254289	50959142	42	14056											
PSMD5	5711	hgsc.bcm.edu	37	9	123591454	123591454	+	Silent	SNP	T	T	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr9:123591454T>C	ENST00000210313.3	-	5	668	c.594A>G	c.(592-594)gaA>gaG	p.E198E	PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Silent_p.E155E	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AGTTTAAAGATTCTGGTGACA	0.398																																																0													99	100	100					9																	123591454		2203	4300	6503	SO:0001819	synonymous_variant	5711			AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"Proteasome (prosome, macropain) subunits"	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.594A>G	chr9.hg19:g.123591454T>C			B4DZM8|Q15045|Q4VXG8	Silent	SNP	ENST00000210313.3	hg19	CCDS6824.1																																																																																				0.398	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		C	123591454	T	C	123591454	2	2	231	1	0	0	0	0	0	0	0	1	12706	1490	52	3		3	PSMD5	9	123591454	Silent	SNP	T	TCGA-B1-5398-01A-02D-1589-08	33337165	123591454	17621977	43	14057											
SPTAN1	6709	hgsc.bcm.edu	37	9	131339498	131339498	+	Silent	SNP	T	T	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr9:131339498T>C	ENST00000372731.4	+	7	986	c.876T>C	c.(874-876)gcT>gcC	p.A292A	SPTAN1_ENST00000372739.3_Silent_p.A292A|SPTAN1_ENST00000358161.5_Silent_p.A292A	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	292					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTGTTCAGGCTCTGCTTCGGA	0.473																																					NSCLC(120;833 1744 2558 35612 37579)											0													134	136	135					9																	131339498		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.876T>C	chr9.hg19:g.131339498T>C			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	hg19	CCDS6905.1																																																																																				0.473	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		C	131339498	T	C	131339498	2	2	231	1	0	0	0	0	0	0	0	1	15122	1538	54	3		3	SPTAN1	9	131339498	Silent	SNP	T	TCGA-B1-5398-01A-02D-1589-08	7748044	131339498	9873933	44	14058											
KCNT1	57582	hgsc.bcm.edu	37	9	138683918	138683918	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr9:138683918G>A	ENST00000263604.3	+	31	3604	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	KCNT1_ENST00000298480.5_Missense_Mutation_p.V1228M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V1207M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V1207M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V1185M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V1193M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V1183M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V1206M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1202					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGGCTCACGTGGCCAGCAG	0.677																																																0													23	25	25					9																	138683918		2201	4299	6500	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.3604G>A	chr9.hg19:g.138683918G>A	ENSP00000263604:p.Val1202Met		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	hg19		.	.	.	.	.	.	.	.	.	.	G	13.10	2.136017	0.37728	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.25912	1.84;1.86;1.77;1.84	4.86	2.02	0.26589	.	0.135507	0.49305	N	0.000146	T	0.19565	0.0470	L	0.46157	1.445	0.43043	D	0.994636	B;B;B	0.32365	0.058;0.251;0.367	B;B;B	0.27500	0.027;0.037;0.08	T	0.03898	-1.0994	10	0.41790	T	0.15	-41.9415	9.4906	0.38958	0.2237:0.0:0.7763:0.0	.	1195;1207;1183	C9JYL2;B9EGP2;G5E9V0	.;.;.	M	1183;1228;1207;1187;1195;1209;1207;1202	ENSP00000417851:V1183M;ENSP00000298480:V1228M;ENSP00000360822:V1207M;ENSP00000263604:V1202M	ENSP00000263604:V1202M	V	+	1	0	KCNT1	137823739	1.000000	0.71417	0.999000	0.59377	0.475000	0.33008	2.313000	0.43735	0.132000	0.18615	0.561000	0.74099	GTG		0.677	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138683918	G	A	138683918	3	1	231	1	0	0	0	0	1	0	0	0	8093	1145	40	1	3741	1	KCNT1	9	138683918	Missense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	7344420	138683918	2529513	45	14059											
RHOBTB1	9886	hgsc.bcm.edu	37	10	62648933	62648933	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr10:62648933T>A	ENST00000337910.5	-	6	830	c.493A>T	c.(493-495)Aga>Tga	p.R165*	RHOBTB1_ENST00000357917.4_Nonsense_Mutation_p.R165*	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	165	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATATCCCCTCTCTTTATGGGC	0.388																																																0													57	59	58					10																	62648933		2203	4300	6503	SO:0001587	stop_gained	9886			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.493A>T	chr10.hg19:g.62648933T>A	ENSP00000338671:p.Arg165*			Nonsense_Mutation	SNP	ENST00000337910.5	hg19	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	T	40	8.172729	0.98688	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	.	.	.	5.83	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3328	0.66569	0.0:0.0:0.1313:0.8686	.	.	.	.	X	165	.	ENSP00000338671:R165X	R	-	1	2	RHOBTB1	62318939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.586000	0.46119	2.219000	0.72066	0.482000	0.46254	AGA		0.388	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			A	62648933	T	A	62648933	4	1	231	1	0	0	0	0	0	1	0	0	13339	1559	54	5	1621	5	RHOBTB1	10	62648933	Nonsense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08		62648933	72885814	46	14060											
ENTPD7	57089	hgsc.bcm.edu	37	10	101458575	101458575	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr10:101458575G>C	ENST00000370489.4	+	10	1473	c.1295G>C	c.(1294-1296)gGt>gCt	p.G432A		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	432						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TTGCGCATTGGTGGCCGCTAC	0.438																																																0													58	57	57					10																	101458575		2203	4300	6503	SO:0001583	missense	57089			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1295G>C	chr10.hg19:g.101458575G>C	ENSP00000359520:p.Gly432Ala		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	hg19	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310593	0.81358	.	.	ENSG00000198018	ENST00000370489	T	0.12879	2.64	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	M	0.71036	2.16	0.80722	D	1	D	0.60575	0.988	D	0.70935	0.971	T	0.03278	-1.1053	10	0.37606	T	0.19	-17.123	18.3825	0.90455	0.0:0.0:1.0:0.0	.	432	Q9NQZ7	ENTP7_HUMAN	A	432	ENSP00000359520:G432A	ENSP00000359520:G432A	G	+	2	0	ENTPD7	101448565	1.000000	0.71417	0.982000	0.44146	0.720000	0.41350	9.578000	0.98200	2.583000	0.87209	0.655000	0.94253	GGT		0.438	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		C	101458575	G	C	101458575	3	2	231	1	0	0	0	0	1	0	0	0	5146	1261	44	4	1329	4	ENTPD7	10	101458575	Missense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	38809642	101458575	34076172	47	14061											
NFKB2	4791	hgsc.bcm.edu	37	10	104156717	104156717	+	Silent	SNP	C	C	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr10:104156717C>T	ENST00000369966.3	+	6	550	c.300C>T	c.(298-300)gaC>gaT	p.D100D	NFKB2_ENST00000189444.6_Silent_p.D100D|NFKB2_ENST00000428099.1_Silent_p.D100D	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	100	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CACACAGTGACCCACCTCGTG	0.597			T	IGH@	B-NHL																																		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													78	84	82					10																	104156717		2080	4213	6293	SO:0001819	synonymous_variant	4791			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.300C>T	chr10.hg19:g.104156717C>T			A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	hg19	CCDS41564.1																																																																																				0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			T	104156717	C	T	104156717	2	4	231	1	0	0	0	0	0	0	0	1	10378	506	18	2		2	NFKB2	10	104156717	Silent	SNP	C	TCGA-B1-5398-01A-02D-1589-08	2698142	104156717	31378030	48	14062											
CCKBR	887	hgsc.bcm.edu	37	11	6291417	6291417	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:6291417G>A	ENST00000334619.2	+	3	696	c.503G>A	c.(502-504)cGc>cAc	p.R168H	CCKBR_ENST00000525462.1_Missense_Mutation_p.R168H|CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.R84H	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	168					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGGCAGACGCGCTCCCACGCG	0.647																																																0													46	38	41					11																	6291417		2197	4290	6487	SO:0001583	missense	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.503G>A	chr11.hg19:g.6291417G>A	ENSP00000335544:p.Arg168His		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	hg19	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371373	0.82573	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.72725	-0.68;-0.68;-0.68	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84197	0.5419	M	0.88377	2.95	0.51012	D	0.999906	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75020	0.937;0.975;0.985	D	0.85468	0.1171	10	0.52906	T	0.07	.	10.2312	0.43256	0.0916:0.0:0.9084:0.0	.	168;102;168	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	H	168;84;168	ENSP00000335544:R168H;ENSP00000432079:R84H;ENSP00000435534:R168H	ENSP00000335544:R168H	R	+	2	0	CCKBR	6247993	0.101000	0.21875	1.000000	0.80357	0.942000	0.58702	2.571000	0.45990	2.505000	0.84491	0.655000	0.94253	CGC		0.647	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		A	6291417	G	A	6291417	3	1	231	1	0	0	0	0	1	0	0	0	2883	1087	38	1	513	1	CCKBR	11	6291417	Missense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08		6291417	128715099	49	14063											
MAPK8IP1	9479	hgsc.bcm.edu	37	11	45926284	45926284	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:45926284C>T	ENST00000241014.2	+	9	1962	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.R588W|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	598	Interaction with VRK2.|PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CACCACCCGCCGGCTCACCGT	0.612																																																0													77	80	79					11																	45926284		2203	4299	6502	SO:0001583	missense	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1792C>T	chr11.hg19:g.45926284C>T	ENSP00000241014:p.Arg598Trp		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	hg19	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560899	0.86335	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.14766	2.48;2.48	5.84	4.87	0.63330	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.056704	0.64402	D	0.000002	T	0.35653	0.0939	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03503	-1.1030	10	0.87932	D	0	-26.4988	16.4247	0.83810	0.0:0.8687:0.1313:0.0	.	598	Q9UQF2	JIP1_HUMAN	W	598;588	ENSP00000241014:R598W;ENSP00000378991:R588W	ENSP00000241014:R598W	R	+	1	2	MAPK8IP1	45882860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.985000	0.29578	2.768000	0.95171	0.561000	0.74099	CGG		0.612	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		T	45926284	C	T	45926284	3	4	231	1	0	0	0	0	1	0	0	0	9286	643	23	1	1826	1	MAPK8IP1	11	45926284	Missense_Mutation	SNP	C	TCGA-B1-5398-01A-02D-1589-08	39634867	45926284	89080232	50	14064											
MADD	8567	hgsc.bcm.edu	37	11	47345285	47345285	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:47345285G>C	ENST00000311027.5	+	31	4606	c.4441G>C	c.(4441-4443)Gag>Cag	p.E1481Q	MADD_ENST00000405573.2_Missense_Mutation_p.E291Q|MADD_ENST00000395336.3_Missense_Mutation_p.E1481Q|MADD_ENST00000407859.3_Missense_Mutation_p.E1399Q|MADD_ENST00000395344.3_Missense_Mutation_p.E1375Q|MADD_ENST00000402799.1_Missense_Mutation_p.E1379Q|MADD_ENST00000402192.2_Missense_Mutation_p.E1421Q|MADD_ENST00000406482.1_Missense_Mutation_p.E1379Q|MADD_ENST00000342922.4_Missense_Mutation_p.E1422Q|MADD_ENST00000349238.3_Missense_Mutation_p.E1442Q	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGGTGGTACGAGAAGCTCAT	0.498																																																0													223	167	186					11																	47345285		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4441G>C	chr11.hg19:g.47345285G>C	ENSP00000310933:p.Glu1481Gln			Missense_Mutation	SNP	ENST00000311027.5	hg19	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270702	0.95429	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.57436	2.85;2.72;2.75;2.83;2.86;2.72;2.72;2.87;2.85;0.4	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	L	0.53561	1.675	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.999;0.999;0.999;0.999;0.999;0.998;0.997;0.998	T	0.71724	-0.4506	10	0.87932	D	0	-24.9261	19.903	0.96995	0.0:0.0:1.0:0.0	.	291;1375;1375;1481;1379;1379;1379;1442;1399;1481;1422	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	Q	1422;1379;1379;1379;1442;1481;1399;1375;1481;1421;291	ENSP00000343902:E1422Q;ENSP00000385585:E1379Q;ENSP00000384435:E1379Q;ENSP00000304505:E1442Q;ENSP00000310933:E1481Q;ENSP00000384204:E1399Q;ENSP00000378753:E1375Q;ENSP00000378745:E1481Q;ENSP00000384287:E1421Q;ENSP00000384483:E291Q	ENSP00000310933:E1481Q	E	+	1	0	MADD	47301861	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	8.947000	0.93000	2.705000	0.92388	0.549000	0.68633	GAG		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			C	47345285	G	C	47345285	3	2	231	1	0	0	0	0	1	0	0	0	9154	1059	37	4	4559	4	MADD	11	47345285	Missense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	1419001	47345285	87661231	51	14065											
OR5D14	219436	hgsc.bcm.edu	37	11	55563325	55563326	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:55563325_55563326CT>AA	ENST00000335605.1	+	1	294_295	c.294_295CT>AA	c.(292-297)agCTgc>agAAgc	p.98_99SC>RS		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	98						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)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCTACTTTAGCTGCATGATGCA	0.455																																																0																																										SO:0001583	missense	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	Exception_encountered	chr11.hg19:g.55563325_55563326delinsAA	ENSP00000334456:p.S98_C99delinsRS		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	hg19	CCDS31508.1																																																																																				0.455	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		AA	55563326	CT	AA	55563325	3	1	231	1	0	0	0	0	1	0	0	0	11157	796	28	4	296	4	OR5D14	11	55563325	Missense_Mutation	DNP	CT	TCGA-B1-5398-01A-02D-1589-08	8218040	55563325	79443191	52	14066											
SLC22A10	387775	hgsc.bcm.edu	37	11	63064875	63064875	+	Missense_Mutation	SNP	C	C	T	rs200183991		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:63064875C>T	ENST00000332793.6	+	3	609	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A10_ENST00000544661.1_Missense_Mutation_p.R48C|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	203						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CTGTGTACTACGCTTCTTGGC	0.408																																																0								C	CYS/ARG	2,4092		0,2,2045	170	169	169		607	2.3	0.3	11		169	0,8428		0,0,4214	yes	missense	SLC22A10	NM_001039752.3	180	0,2,6259	TT,TC,CC		0.0,0.0489,0.016	probably-damaging	203/542	63064875	2,12520	2047	4214	6261	SO:0001583	missense	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.607C>T	chr11.hg19:g.63064875C>T	ENSP00000327569:p.Arg203Cys		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	hg19	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306314	0.60305	4.89E-4	0.0	ENSG00000184999	ENST00000544661;ENST00000332793	D;D	0.90261	-2.64;-2.64	3.26	2.34	0.29019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.066213	0.64402	N	0.000009	D	0.93341	0.7877	M	0.92077	3.27	0.80722	D	1	P	0.50819	0.939	P	0.50352	0.638	D	0.92539	0.6040	10	0.72032	D	0.01	.	8.4548	0.32893	0.0:0.8776:0.0:0.1224	.	203	Q63ZE4	S22AA_HUMAN	C	48;203	ENSP00000445667:R48C;ENSP00000327569:R203C	ENSP00000327569:R203C	R	+	1	0	SLC22A10	62821451	0.772000	0.28567	0.265000	0.24526	0.132000	0.20833	1.238000	0.32707	0.751000	0.32900	0.447000	0.29281	CGC		0.408	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		T	63064875	C	T	63064875	3	4	231	1	0	0	0	0	1	0	0	0	14447	536	19	1	617	1	SLC22A10	11	63064875	Missense_Mutation	SNP	C	TCGA-B1-5398-01A-02D-1589-08	7501550	63064875	71941641	53	14067											
NUMA1	4926	hgsc.bcm.edu	37	11	71724282	71724282	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:71724282C>T	ENST00000393695.3	-	15	4598	c.4267G>A	c.(4267-4269)Gct>Act	p.A1423T	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.A1423T|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGCTGCTGAGCTGTTCGCTCC	0.672			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													46	48	47					11																	71724282		2200	4293	6493	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4267G>A	chr11.hg19:g.71724282C>T	ENSP00000377298:p.Ala1423Thr			Missense_Mutation	SNP	ENST00000393695.3	hg19	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231361	0.39399	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.13307	2.6;2.6	5.14	4.23	0.50019	.	0.000000	0.53938	D	0.000051	T	0.06645	0.0170	N	0.14661	0.345	0.20563	N	0.999885	P;B;B;P	0.39480	0.675;0.447;0.241;0.675	B;B;B;B	0.35550	0.205;0.148;0.148;0.205	T	0.25779	-1.0122	10	0.33940	T	0.23	.	5.9903	0.19456	0.1541:0.6873:0.0:0.1586	.	1429;907;1423;1423	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	T	1423;1423;986;392	ENSP00000351851:A1423T;ENSP00000377298:A1423T	ENSP00000351851:A1423T	A	-	1	0	NUMA1	71401930	0.000000	0.05858	0.838000	0.33150	0.876000	0.50452	-0.321000	0.08018	1.391000	0.46566	0.655000	0.94253	GCT		0.672	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			T	71724282	C	T	71724282	3	4	231	1	0	0	0	0	1	0	0	0	10752	797	28	2	2132	2	NUMA1	11	71724282	Missense_Mutation	SNP	C	TCGA-B1-5398-01A-02D-1589-08	8659407	71724282	63282234	54	14068											
ARHGEF17	9828	hgsc.bcm.edu	37	11	73021440	73021440	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:73021440T>C	ENST00000263674.3	+	1	2107	c.1757T>C	c.(1756-1758)aTc>aCc	p.I586T	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	586					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTGCCCCTCATCGTCCAGGAC	0.647																																																0													48	50	49					11																	73021440		2200	4293	6493	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1757T>C	chr11.hg19:g.73021440T>C	ENSP00000263674:p.Ile586Thr		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	hg19	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	T	9.868	1.198064	0.22037	.	.	ENSG00000110237	ENST00000263674	T	0.55588	0.51	4.62	4.62	0.57501	.	1.144840	0.06515	N	0.738667	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.20974	-1.0259	10	0.87932	D	0	-9.7864	9.3506	0.38136	0.0:0.0:0.1804:0.8196	.	586	Q96PE2	ARHGH_HUMAN	T	586	ENSP00000263674:I586T	ENSP00000263674:I586T	I	+	2	0	ARHGEF17	72699088	0.963000	0.33076	0.006000	0.13384	0.872000	0.50106	3.475000	0.53136	1.931000	0.55961	0.459000	0.35465	ATC		0.647	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		C	73021440	T	C	73021440	3	2	231	1	0	0	0	0	1	0	0	0	900	1435	50	3	1759	3	ARHGEF17	11	73021440	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	1297158	73021440	61985076	55	14069											
GDPD4	220032	hgsc.bcm.edu	37	11	76944148	76944148	+	Silent	SNP	G	G	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:76944148G>C	ENST00000376217.2	-	13	1561	c.1311C>G	c.(1309-1311)gcC>gcG	p.A437A	GDPD4_ENST00000315938.4_Silent_p.A437A			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	437	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TGGAGCACCAGGCCAGTGAGA	0.468																																																0													168	146	153					11																	76944148		2200	4292	6492	SO:0001819	synonymous_variant	220032			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1311C>G	chr11.hg19:g.76944148G>C			Q7Z5B0	Silent	SNP	ENST00000376217.2	hg19																																																																																					0.468	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		C	76944148	G	C	76944148	2	2	231	1	0	0	0	0	0	0	0	1	6328	987	35	4		4	GDPD4	11	76944148	Silent	SNP	G	TCGA-B1-5398-01A-02D-1589-08	3922708	76944148	58062368	56	14070											
PCF11	51585	hgsc.bcm.edu	37	11	82877690	82877690	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:82877690A>G	ENST00000298281.4	+	5	2203	c.1751A>G	c.(1750-1752)aAt>aGt	p.N584S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	584					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAAGGAGAATGTAGAAAAC	0.393																																																0													66	66	66					11																	82877690		1824	4044	5868	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1751A>G	chr11.hg19:g.82877690A>G	ENSP00000298281:p.Asn584Ser		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172383	0.38315	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.50813	1.68;0.74;0.73	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000005	T	0.34483	0.0899	N	0.19112	0.55	0.29519	N	0.853609	P;P	0.43788	0.473;0.817	B;B	0.38500	0.091;0.275	T	0.25433	-1.0132	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	584;584	E9PQ01;O94913	.;PCF11_HUMAN	S	584	ENSP00000298281:N584S;ENSP00000434540:N584S;ENSP00000431567:N584S	.	N	+	2	0	PCF11	82555338	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	3.827000	0.55745	2.326000	0.78906	0.533000	0.62120	AAT		0.393	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82877690	A	G	82877690	3	3	231	1	0	0	0	0	1	0	0	0	11575	101	4	3	1769	3	PCF11	11	82877690	Missense_Mutation	SNP	A	TCGA-B1-5398-01A-02D-1589-08	5933542	82877690	52128826	57	14071											
CASP4	837	hgsc.bcm.edu	37	11	104825523	104825523	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:104825523C>T	ENST00000444739.2	-	2	1123	c.213G>A	c.(211-213)atG>atA	p.M71I	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Missense_Mutation_p.M15I	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	71	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TTTGAAGAAGCATTTGTCCTG	0.353																																																0													187	177	181					11																	104825523		2202	4299	6501	SO:0001583	missense	837			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.213G>A	chr11.hg19:g.104825523C>T	ENSP00000388566:p.Met71Ile		A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	hg19	CCDS8327.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.174|0.174	-1.068340|-1.068340	0.01934|0.01934	.|.	.|.	ENSG00000196954|ENSG00000196954	ENST00000355546|ENST00000444739;ENST00000393150;ENST00000417440	.|T;T;T	.|0.18174	.|2.23;4.52;2.23	3.6|3.6	-1.75|-1.75	0.08031|0.08031	.|DEATH-like (2);Caspase Recruitment (3);	.|1.351520	.|0.05087	.|N	.|0.484541	T|T	0.06371|0.06371	0.0164|0.0164	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.11235	.|0.004;0.001;0.0	.|B;B;B	.|0.13407	.|0.009;0.004;0.002	T|T	0.26710|0.26710	-1.0095|-1.0095	6|10	0.02654|0.02654	T|T	1|1	.|.	0.1298|0.1298	0.00073|0.00073	0.3445:0.2198:0.1837:0.252|0.3445:0.2198:0.1837:0.252	.|.	.|71;71;71	.|B4DJH5;B4E2D2;P49662	.|.;.;CASP4_HUMAN	Y|I	25|71;15;71	.|ENSP00000388566:M71I;ENSP00000376857:M15I;ENSP00000401673:M71I	ENSP00000347741:C25Y|ENSP00000376857:M15I	C|M	-|-	2|3	0|0	CASP4|CASP4	104330733|104330733	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-2.136000|-2.136000	0.01305|0.01305	-0.231000|-0.231000	0.09825|0.09825	-0.150000|-0.150000	0.13652|0.13652	TGC|ATG		0.353	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		T	104825523	C	T	104825523	3	4	231	1	0	0	0	0	1	0	0	0	2675	710	25	2	948	2	CASP4	11	104825523	Missense_Mutation	SNP	C	TCGA-B1-5398-01A-02D-1589-08	21947833	104825523	30180993	58	14072											
FKBP4	2288	hgsc.bcm.edu	37	12	2909578	2909578	+	Silent	SNP	T	T	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:2909578T>G	ENST00000001008.4	+	8	1054	c.867T>G	c.(865-867)gcT>gcG	p.A289A	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	289	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			ACAAGCAAGCTTTACTACAGT	0.483																																																0													76	69	71					12																	2909578		2203	4300	6503	SO:0001819	synonymous_variant	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.867T>G	chr12.hg19:g.2909578T>G			D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	ENST00000001008.4	hg19	CCDS8512.1																																																																																				0.483	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			G	2909578	T	G	2909578	2	3	231	1	0	0	0	0	0	0	0	1	5912	1596	56	5		5	FKBP4	12	2909578	Silent	SNP	T	TCGA-B1-5398-01A-02D-1589-08		2909578	130942317	59	14073											
CHD4	1108	hgsc.bcm.edu	37	12	6707540	6707540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:6707540G>A	ENST00000357008.2	-	11	1697	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	CHD4_ENST00000309577.6_Nonsense_Mutation_p.Q512*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.Q509*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.Q505*	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	512	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GATGGTGGCTGACCCCACTTC	0.547																																					Colon(32;586 792 4568 16848 45314)											0													137	140	139					12																	6707540		2203	4300	6503	SO:0001587	stop_gained	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1534C>T	chr12.hg19:g.6707540G>A	ENSP00000349508:p.Gln512*		Q8IXZ5	Nonsense_Mutation	SNP	ENST00000357008.2	hg19	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	39	7.490672	0.98316	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	3.86	3.86	0.44501	.	0.127870	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	9.8645	12.2938	0.54833	0.0:0.1709:0.8291:0.0	.	.	.	.	X	509;505;512;512;486	.	ENSP00000312419:Q512X	Q	-	1	0	CHD4	6577801	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.469000	0.60169	2.149000	0.67028	0.305000	0.20034	CAG		0.547	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		A	6707540	G	A	6707540	4	1	231	1	0	0	0	0	0	1	0	0	3329	1299	45	2	4324	2	CHD4	12	6707540	Nonsense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	3797962	6707540	127144355	60	14074											
RASSF8	11228	hgsc.bcm.edu	37	12	26217472	26217472	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:26217472A>T	ENST00000405154.2	+	3	344	c.145A>T	c.(145-147)Act>Tct	p.T49S	RASSF8_ENST00000541490.1_Missense_Mutation_p.T49S|RASSF8_ENST00000542865.1_Missense_Mutation_p.T49S|RASSF8_ENST00000381352.3_Missense_Mutation_p.T49S|RASSF8_ENST00000282884.9_Missense_Mutation_p.T49S	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	49	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATGGAGAGATACTGAAAGACA	0.388																																																0													111	115	113					12																	26217472		2203	4300	6503	SO:0001583	missense	11228			U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"chromosome 12 open reading frame 2"	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.145A>T	chr12.hg19:g.26217472A>T	ENSP00000384491:p.Thr49Ser		A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	ENST00000405154.2	hg19	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826488	0.50739	.	.	ENSG00000123094	ENST00000381352;ENST00000535907;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000542315;ENST00000541218;ENST00000282884;ENST00000545413;ENST00000541934	T;T;T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.38	4.21	0.49690	Ras-association (3);	0.046729	0.85682	D	0.000000	T	0.21674	0.0522	N	0.17723	0.515	0.58432	D	0.999995	B;D	0.63046	0.383;0.992	B;D	0.64042	0.19;0.921	T	0.03008	-1.1083	10	0.21014	T	0.42	-11.7935	11.9163	0.52767	0.8541:0.1459:0.0:0.0	.	49;49	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	S	49	ENSP00000370756:T49S;ENSP00000442036:T49S;ENSP00000384491:T49S;ENSP00000439839:T49S;ENSP00000443096:T49S;ENSP00000442485:T49S;ENSP00000441294:T49S;ENSP00000445970:T49S;ENSP00000282884:T49S;ENSP00000443696:T49S	ENSP00000282884:T49S	T	+	1	0	RASSF8	26108739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.609000	0.61148	0.970000	0.38263	0.528000	0.53228	ACT		0.388	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		T	26217472	A	T	26217472	3	4	231	1	0	0	0	0	1	0	0	0	13098	391	14	5	151	5	RASSF8	12	26217472	Missense_Mutation	SNP	A	TCGA-B1-5398-01A-02D-1589-08	19509932	26217472	107634423	61	14075											
LRRK2	120892	hgsc.bcm.edu	37	12	40681240	40681240	+	Missense_Mutation	SNP	A	A	T	rs555679009		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:40681240A>T	ENST00000298910.7	+	20	2646	c.2588A>T	c.(2587-2589)aAt>aTt	p.N863I	LRRK2_ENST00000343742.2_Missense_Mutation_p.N863I	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	863					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCGATGGAAATTTTTCTGAA	0.398																																																0													123	118	119					12																	40681240		2202	4299	6501	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2588A>T	chr12.hg19:g.40681240A>T	ENSP00000298910:p.Asn863Ile		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	7.572	0.666963	0.14710	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71579	2.25;-0.58	5.5	1.35	0.21983	.	0.449692	0.24999	N	0.033934	T	0.50309	0.1608	N	0.19112	0.55	0.09310	N	1	B;B	0.30455	0.28;0.121	B;B	0.30401	0.115;0.032	T	0.41016	-0.9532	10	0.46703	T	0.11	.	6.406	0.21664	0.6611:0.1269:0.212:0.0	.	863;863	E9PC85;Q5S007	.;LRRK2_HUMAN	I	863	ENSP00000341930:N863I;ENSP00000298910:N863I	ENSP00000298910:N863I	N	+	2	0	LRRK2	38967507	0.002000	0.14202	0.001000	0.08648	0.111000	0.19643	0.146000	0.16180	0.363000	0.24346	0.402000	0.26972	AAT		0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		T	40681240	A	T	40681240	3	4	231	1	0	0	0	0	1	0	0	0	9035	101	4	5	2666	5	LRRK2	12	40681240	Missense_Mutation	SNP	A	TCGA-B1-5398-01A-02D-1589-08	14463768	40681240	93170655	62	14076											
PRICKLE1	144165	hgsc.bcm.edu	37	12	42858293	42858293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:42858293G>A	ENST00000455697.1	-	7	1828	c.1543C>T	c.(1543-1545)Cag>Tag	p.Q515*	PRICKLE1_ENST00000552240.1_Nonsense_Mutation_p.Q515*|PRICKLE1_ENST00000445766.2_Nonsense_Mutation_p.Q515*|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Nonsense_Mutation_p.Q515*|PRICKLE1_ENST00000345127.3_Nonsense_Mutation_p.Q515*	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	515					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TCATACCACTGTGTTTCATCA	0.488																																																0													106	101	103					12																	42858293		2203	4300	6503	SO:0001587	stop_gained	144165			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1543C>T	chr12.hg19:g.42858293G>A	ENSP00000401060:p.Gln515*		Q14C83|Q71QF8|Q96N00	Nonsense_Mutation	SNP	ENST00000455697.1	hg19	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	39	7.452020	0.98292	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	.	.	.	5.76	4.85	0.62838	.	0.319538	0.38959	N	0.001519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-13.6227	16.3438	0.83116	0.0:0.0:0.8668:0.1332	.	.	.	.	X	515	.	ENSP00000345064:Q515X	Q	-	1	0	PRICKLE1	41144560	1.000000	0.71417	0.760000	0.31359	0.887000	0.51463	5.953000	0.70290	1.531000	0.49152	0.650000	0.86243	CAG		0.488	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			A	42858293	G	A	42858293	4	1	231	1	0	0	0	0	0	1	0	0	12491	1386	48	2	960	2	PRICKLE1	12	42858293	Nonsense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	2177053	42858293	90993602	63	14077											
SFRS2IP	9169	hgsc.bcm.edu	37	12	46318586	46318586	+	Silent	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:46318586T>A	ENST00000369367.3	-	12	4064	c.3831A>T	c.(3829-3831)ccA>ccT	p.P1277P	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Silent_p.P962P|SCAF11_ENST00000549162.1_Silent_p.P1085P|SCAF11_ENST00000419565.2_Silent_p.P1277P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1277	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTGGTGGTGGTGGTAGTCCCT	0.493																																																0													99	85	90					12																	46318586		2203	4300	6503	SO:0001819	synonymous_variant	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3831A>T	chr12.hg19:g.46318586T>A			A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	hg19	CCDS8748.2																																																																																				0.493	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		A	46318586	T	A	46318586	2	1	231	1	0	0	0	0	0	0	0	1	14183	1683	59	5		5	SFRS2IP	12	46318586	Silent	SNP	T	TCGA-B1-5398-01A-02D-1589-08	3460293	46318586	87533309	64	14078											
MBD6	114785	hgsc.bcm.edu	37	12	57922959	57922959	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:57922959C>T	ENST00000355673.3	+	13	3310	c.2954C>T	c.(2953-2955)cCt>cTt	p.P985L	MBD6_ENST00000431731.2_Missense_Mutation_p.P985L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	985						chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GTCCCTCTGCCTCCCCGGGCC	0.562																																																0													80	79	79					12																	57922959		2203	4300	6503	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2954C>T	chr12.hg19:g.57922959C>T	ENSP00000347896:p.Pro985Leu		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	hg19	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	15.34	2.804649	0.50315	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	4.81	4.81	0.61882	.	0.000000	0.53938	D	0.000055	T	0.28532	0.0706	N	0.08118	0	0.49389	D	0.999785	P;P	0.46784	0.884;0.728	B;B	0.39562	0.303;0.199	T	0.28902	-1.0029	9	0.87932	D	0	-4.6123	13.5981	0.62002	0.0:1.0:0.0:0.0	.	985;985	Q6P0P0;Q96DN6	.;MBD6_HUMAN	L	985	.	ENSP00000347896:P985L	P	+	2	0	MBD6	56209226	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.576000	0.53878	2.683000	0.91414	0.558000	0.71614	CCT		0.562	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			T	57922959	C	T	57922959	3	4	231	1	0	0	0	0	1	0	0	0	9350	681	24	2	2996	2	MBD6	12	57922959	Missense_Mutation	SNP	C	TCGA-B1-5398-01A-02D-1589-08	11604373	57922959	75928936	65	14079											
USP15	9958	hgsc.bcm.edu	37	12	62795034	62795034	+	Silent	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:62795034T>A	ENST00000280377.5	+	21	2800	c.2742T>A	c.(2740-2742)acT>acA	p.T914T	USP15_ENST00000393654.3_Silent_p.T889T|USP15_ENST00000353364.3_Silent_p.T885T	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	914	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GTGTCTCCACTGCATCTGAAG	0.323																																					Melanoma(181;615 2041 39364 49691 50001)											0													69	68	68					12																	62795034		2203	4297	6500	SO:0001819	synonymous_variant	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2742T>A	chr12.hg19:g.62795034T>A			Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	hg19	CCDS58251.1																																																																																				0.323	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		A	62795034	T	A	62795034	2	1	231	1	0	0	0	0	0	0	0	1	17051	1567	55	5		5	USP15	12	62795034	Silent	SNP	T	TCGA-B1-5398-01A-02D-1589-08	4872075	62795034	71056861	66	14080											
GRIP1	23426	hgsc.bcm.edu	37	12	66838463	66838463	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:66838463delT	ENST00000398016.3	-	12	1500	c.1432delA	c.(1432-1434)attfs	p.I478fs	GRIP1_ENST00000286445.7_Frame_Shift_Del_p.I530fs|GRIP1_ENST00000359742.4_Frame_Shift_Del_p.I530fs	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCTGTTGGAATTCCATTGATG	0.458																																																0													136	131	133					12																	66838463		1962	4135	6097	SO:0001589	frameshift_variant	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1432delA	chr12.hg19:g.66838463delT	ENSP00000381098:p.Ile478fs		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Frame_Shift_Del	DEL	ENST00000398016.3	hg19	CCDS41807.1																																																																																				0.458	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			-	66838463	T	-	66838463	7	5	231	1	0	1	0	1	0	0	0	0	6789	1493	52	0	1850	0	GRIP1	12	66838463	Frame_Shift_Del	DEL	T	TCGA-B1-5398-01A-02D-1589-08	4043429	66838463	67013432	67	14081											
ALDH1L2	160428	hgsc.bcm.edu	37	12	105433493	105433493	+	Silent	SNP	C	C	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:105433493C>T	ENST00000258494.9	-	17	2183	c.2043G>A	c.(2041-2043)aaG>aaA	p.K681K	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	681	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCAATACCTCTTCATGATCT	0.388																																																0													148	136	140					12																	105433493		2203	4300	6503	SO:0001819	synonymous_variant	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2043G>A	chr12.hg19:g.105433493C>T			Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	hg19	CCDS31891.1																																																																																				0.388	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		T	105433493	C	T	105433493	2	4	231	1	0	0	0	0	0	0	0	1	495	912	32	2		2	ALDH1L2	12	105433493	Silent	SNP	C	TCGA-B1-5398-01A-02D-1589-08	38595030	105433493	28418402	68	14082											
PXN	5829	hgsc.bcm.edu	37	12	120653399	120653399	+	Silent	SNP	G	G	A	rs374919882	byFrequency	TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:120653399G>A	ENST00000228307.7	-	7	1038	c.897C>T	c.(895-897)ggC>ggT	p.G299G	PXN_ENST00000267257.7_Intron|PXN_ENST00000536957.1_Silent_p.G297G|PXN_ENST00000397506.3_Silent_p.G63G|PXN_ENST00000424649.2_Intron|PXN_ENST00000538144.1_Intron|PXN_ENST00000458477.2_Intron|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000535200.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	299					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTCCGCCCGCCGTCCCGAG	0.672													G|||	4	0.000798722	0.0	0.0	5008	,	,		11205	0.0		0.0	False		,,,				2504	0.0041															0								G	,,	1,3119		0,1,1559	27	35	32		897,,	3	0.7	12		32	0,7154		0,0,3577	no	coding-synonymous,intron,intron	PXN	NM_001080855.2,NM_002859.3,NM_025157.4	,,	0,1,5136	AA,AG,GG		0.0,0.0321,0.0097	,,	299/592,,	120653399	1,10273	1560	3577	5137	SO:0001819	synonymous_variant	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.897C>T	chr12.hg19:g.120653399G>A			B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	hg19	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	G	0.728	-0.780857	0.02929	3.21E-4	0.0	ENSG00000089159	ENST00000550795	.	.	.	4.89	3.03	0.35002	.	.	.	.	.	T	0.35480	0.0933	.	.	.	0.24856	N	0.992376	.	.	.	.	.	.	T	0.19976	-1.0289	4	.	.	.	.	8.1293	0.31018	0.1991:0.0:0.8009:0.0	.	.	.	.	V	48	.	.	A	-	2	0	PXN	119137782	0.004000	0.15560	0.679000	0.29978	0.009000	0.06853	0.629000	0.24538	1.209000	0.43321	-0.148000	0.13756	GCG		0.672	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		A	120653399	G	A	120653399	2	1	231	1	0	0	0	0	0	0	0	1	12858	1074	38	1		1	PXN	12	120653399	Silent	SNP	G	TCGA-B1-5398-01A-02D-1589-08	15219906	120653399	13198496	69	14083											
DCLK1	9201	hgsc.bcm.edu	37	13	36382392	36382396	+	Frame_Shift_Del	DEL	GGAGA	GGAGA	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	GGAGA	GGAGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr13:36382392_36382396delGGAGA	ENST00000360631.3	-	14	2039_2043	c.1828_1832delTCTCC	c.(1828-1833)tctccafs	p.SP610fs	DCLK1_ENST00000379893.1_Frame_Shift_Del_p.SP303fs|DCLK1_ENST00000255448.4_Frame_Shift_Del_p.SP610fs			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	610	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.P611S(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATCCCAGTATGGAGAAGGAAAGTCC	0.424																																																1	Substitution - Missense(1)	skin(1)																																								SO:0001589	frameshift_variant	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1828_1832delTCTCC	chr13.hg19:g.36382392_36382396delGGAGA	ENSP00000353846:p.Ser610fs		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Frame_Shift_Del	DEL	ENST00000360631.3	hg19																																																																																					0.424	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		-	36382396	GGAGA	-	36382392	7	5	231	1	0	1	0	1	0	0	0	0	4293	1348	47	0	377	0	DCLK1	13	36382392	Frame_Shift_Del	DEL	GGAGA	TCGA-B1-5398-01A-02D-1589-08		36382392	78787486	70	14084											
F10	2159	hgsc.bcm.edu	37	13	113803360	113803360	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr13:113803360delC	ENST00000375559.3	+	8	1034	c.996delC	c.(994-996)atcfs	p.I332fs	F10_ENST00000375551.3_Frame_Shift_Del_p.S329fs|F10_ENST00000409306.1_Frame_Shift_Del_p.S331fs	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	332	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	AGACCCCCATCACCTTCCGCA	0.632																																																0													154	120	132					13																	113803360		2203	4300	6503	SO:0001589	frameshift_variant	2159				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.996delC	chr13.hg19:g.113803360delC	ENSP00000364709:p.Ile332fs		Q14340	Frame_Shift_Del	DEL	ENST00000375559.3	hg19	CCDS9530.1																																																																																				0.632	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			-	113803360	C	-	113803360	7	5	231	1	0	1	0	1	0	0	0	0	5338	816	29	0	1026	0	F10	13	113803360	Frame_Shift_Del	DEL	C	TCGA-B1-5398-01A-02D-1589-08	77420968	113803360	1366518	71	14085											
OR4N5	390437	hgsc.bcm.edu	37	14	20612708	20612708	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:20612708T>G	ENST00000333629.1	+	1	814	c.814T>G	c.(814-816)Tct>Gct	p.S272A	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CAAGGTAGTTTCTCTTTTCCA	0.418																																																0													165	167	167					14																	20612708		2203	4300	6503	SO:0001583	missense	390437				CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.814T>G	chr14.hg19:g.20612708T>G	ENSP00000332110:p.Ser272Ala		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	hg19	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	T	1.597	-0.527459	0.04141	.	.	ENSG00000184394	ENST00000333629	T	0.00198	8.57	4.0	-2.2	0.06994	GPCR, rhodopsin-like superfamily (1);	0.172594	0.28198	N	0.016223	T	0.00109	0.0003	L	0.41492	1.28	0.09310	N	1	B	0.14012	0.009	B	0.21708	0.036	T	0.47586	-0.9106	10	0.02654	T	1	.	6.6619	0.23018	0.1429:0.0:0.4373:0.4197	.	272	Q8IXE1	OR4N5_HUMAN	A	272	ENSP00000332110:S272A	ENSP00000332110:S272A	S	+	1	0	OR4N5	19682548	0.000000	0.05858	0.534000	0.28014	0.087000	0.18053	-0.284000	0.08422	-0.115000	0.11915	-0.313000	0.08912	TCT		0.418	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			G	20612708	T	G	20612708	3	3	231	1	0	0	0	0	1	0	0	0	11081	1783	62	5	816	5	OR4N5	14	20612708	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08		20612708	86736832	72	14086											
FANCM	57697	hgsc.bcm.edu	37	14	45667882	45667882	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:45667882delT	ENST00000267430.5	+	22	5837	c.5752delT	c.(5752-5754)tatfs	p.Y1918fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.Y1892fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1918	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AACAAAGAGCTATGACAGCCT	0.363								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													84	83	83					14																	45667882		2203	4300	6503	SO:0001589	frameshift_variant	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5752delT	chr14.hg19:g.45667882delT	ENSP00000267430:p.Tyr1918fs		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Del	DEL	ENST00000267430.5	hg19	CCDS32070.1																																																																																				0.363	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		-	45667882	T	-	45667882	7	5	231	1	0	1	0	1	0	0	0	0	5673	1522	53	0	5838	0	FANCM	14	45667882	Frame_Shift_Del	DEL	T	TCGA-B1-5398-01A-02D-1589-08	25055174	45667882	61681658	73	14087											
C14orf182	283551	hgsc.bcm.edu	37	14	50472313	50472313	+	Splice_Site	SNP	T	T	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:50472313T>C	ENST00000399206.1	-	1	1925	c.205A>G	c.(205-207)Agg>Ggg	p.R69G	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	69										large_intestine(2)|urinary_tract(1)	3						CACACGGACCTTGGAGGCACA	0.537																																																0													126	138	134					14																	50472313		2049	4187	6236	SO:0001630	splice_region_variant	283551			AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000399206.1:c.206+1A>G	chr14.hg19:g.50472313T>C			A8MYX4	Missense_Mutation	SNP	ENST00000399206.1	hg19	CCDS41949.1	.	.	.	.	.	.	.	.	.	.	T	4.441	0.081550	0.08533	.	.	ENSG00000214900	ENST00000399206	T	0.59906	0.23	3.15	0.664	0.17890	.	.	.	.	.	T	0.43986	0.1272	.	.	.	0.09310	N	1	B	0.24426	0.103	B	0.23419	0.046	T	0.40757	-0.9546	8	0.87932	D	0	.	5.9656	0.19322	0.6219:0.0:0.0:0.3781	.	69	A1A4T8-2	.	G	69	ENSP00000382157:R69G	ENSP00000382157:R69G	R	-	1	2	C14orf182	49542063	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.033000	0.13754	0.130000	0.18549	-0.509000	0.04479	AGG		0.537	C14orf182-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395717.1	NM_001012706	Missense_Mutation	C	50472313	T	C	50472313	5	2	231	1	0	0	0	0	0	0	1	0	1767	1623	56	3	130	3	C14orf182	14	50472313	Splice_Site	SNP	T	TCGA-B1-5398-01A-02D-1589-08	4804431	50472313	56877227	74	14088											
MLH3	27030	hgsc.bcm.edu	37	14	75516130	75516130	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:75516130T>A	ENST00000556740.1	-	1	264	c.229A>T	c.(229-231)Aaa>Taa	p.K77*	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000556257.1_Nonsense_Mutation_p.K77*|MLH3_ENST00000238662.7_Nonsense_Mutation_p.K77*|MLH3_ENST00000355774.2_Nonsense_Mutation_p.K77*|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000380968.2_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	77					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GAGTGGCATTTACTGGTGAAA	0.448								Mismatch excision repair (MMR)																																								0													101	90	94					14																	75516130		2203	4300	6503	SO:0001587	stop_gained	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.229A>T	chr14.hg19:g.75516130T>A	ENSP00000452316:p.Lys77*		P49751|Q56DK9|Q9P292|Q9UHC0	Nonsense_Mutation	SNP	ENST00000556740.1	hg19	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.646105	0.87958	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000553263;ENST00000557648	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.7094	15.6637	0.77209	0.0:0.0:0.0:1.0	.	.	.	.	X	77	.	ENSP00000238662:K77X	K	-	1	0	MLH3	74585883	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.036000	0.88901	2.095000	0.63458	0.533000	0.62120	AAA		0.448	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		A	75516130	T	A	75516130	4	1	231	1	0	0	0	0	0	1	0	0	9620	1763	61	5	4180	5	MLH3	14	75516130	Nonsense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	25043817	75516130	31833410	75	14089											
C14orf159	80017	hgsc.bcm.edu	37	14	91642321	91642321	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:91642321T>A	ENST00000523771.1	+	7	1239	c.636T>A	c.(634-636)gaT>gaA	p.D212E	C14orf159_ENST00000523816.1_Missense_Mutation_p.D212E|C14orf159_ENST00000520328.1_Missense_Mutation_p.D200E|C14orf159_ENST00000518868.1_Missense_Mutation_p.D217E|C14orf159_ENST00000412671.2_Missense_Mutation_p.D217E|C14orf159_ENST00000525393.2_Missense_Mutation_p.D88E|C14orf159_ENST00000256324.10_Missense_Mutation_p.D217E|C14orf159_ENST00000428926.2_Missense_Mutation_p.D212E|C14orf159_ENST00000521077.2_Missense_Mutation_p.D217E|C14orf159_ENST00000522322.1_Missense_Mutation_p.D212E			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	212						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CCTACGGGGATGCCATGGTGT	0.527																																																0													102	90	94					14																	91642321		2203	4300	6503	SO:0001583	missense	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.636T>A	chr14.hg19:g.91642321T>A	ENSP00000429655:p.Asp212Glu		B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	hg19	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	T	3.538	-0.094274	0.07053	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.06	-10.1	0.00402	.	0.938675	0.09028	N	0.859166	T	0.22166	0.0534	N	0.20807	0.61	0.09310	N	1	B;B;B;B;B;B	0.11235	0.003;0.004;0.003;0.0;0.001;0.003	B;B;B;B;B;B	0.16289	0.009;0.014;0.015;0.005;0.005;0.007	T	0.15378	-1.0439	10	0.39692	T	0.17	.	3.0379	0.06128	0.2001:0.225:0.4295:0.1454	.	212;88;217;200;217;217	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	E	200;217;217;217;212;217;88;212;212;212;217	ENSP00000429453:D200E;ENSP00000256324:D217E;ENSP00000430137:D217E;ENSP00000428263:D217E;ENSP00000428974:D212E;ENSP00000428652:D217E;ENSP00000435459:D88E;ENSP00000404343:D212E;ENSP00000427953:D212E;ENSP00000429655:D212E;ENSP00000404196:D217E	ENSP00000256324:D217E	D	+	3	2	C14orf159	90712074	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.173000	0.03108	-3.740000	0.00113	0.459000	0.35465	GAT		0.527	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		A	91642321	T	A	91642321	3	1	231	1	0	0	0	0	1	0	0	0	1757	1461	51	5	669	5	C14orf159	14	91642321	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	16126191	91642321	15707219	76	14090											
PPP2R5C	5527	hgsc.bcm.edu	37	14	102323022	102323022	+	Splice_Site	SNP	G	G	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:102323022G>A	ENST00000334743.5	+	2	142		c.e2-1		PPP2R5C_ENST00000328724.5_Splice_Site|PPP2R5C_ENST00000422945.2_Splice_Site|PPP2R5C_ENST00000557095.1_Splice_Site|PPP2R5C_ENST00000445439.3_Splice_Site|PPP2R5C_ENST00000350249.3_Splice_Site	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGCTTTTCAGATGTTCCTCC	0.353																																																0													177	165	169					14																	102323022		2203	4300	6503	SO:0001630	splice_region_variant	5527			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.95-1G>A	chr14.hg19:g.102323022G>A			B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Splice_Site	SNP	ENST00000334743.5	hg19	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633499	0.87660	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3772	0.94517	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R5C	101392775	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.813000	0.99286	2.573000	0.86826	0.511000	0.50034	.		0.353	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719	Intron	A	102323022	G	A	102323022	5	1	231	1	0	0	0	0	0	0	1	0	12399	956	33	2	469	2	PPP2R5C	14	102323022	Splice_Site	SNP	G	TCGA-B1-5398-01A-02D-1589-08	10680701	102323022	5026518	77	14091											
BAG5	9529	hgsc.bcm.edu	37	14	104027517	104027517	+	5'UTR	SNP	A	A	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:104027517A>T	ENST00000445922.2	-	0	231				BAG5_ENST00000337322.4_Silent_p.T36T|APOPT1_ENST00000247618.4_5'Flank|APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000299204.4_5'UTR|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5						negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TGTTGTGTTCAGTTTCACAAG	0.353																																					NSCLC(171;1832 2055 18950 31566 41632)											0													57	61	60					14																	104027517		2199	4285	6484	SO:0001623	5_prime_UTR_variant	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.-16T>A	chr14.hg19:g.104027517A>T			O94950|Q86W59	Silent	SNP	ENST00000445922.2	hg19	CCDS9982.1																																																																																				0.353	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			T	104027517	A	T	104027517	1	4	231	0	1	0	0	0	0	0	0	0	1290	175	7	5		5	BAG5	14	104027517	5'UTR	SNP	A	TCGA-B1-5398-01A-02D-1589-08	1704495	104027517	3322023	78	14092											
SCG3	29106	hgsc.bcm.edu	37	15	51993377	51993377	+	Silent	SNP	A	A	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr15:51993377A>G	ENST00000220478.3	+	10	1546	c.1143A>G	c.(1141-1143)ggA>ggG	p.G381G	SCG3_ENST00000542355.2_Silent_p.G149G	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	381					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGGAATATGGAAGCTTGAAGG	0.413																																																0													185	171	176					15																	51993377		2195	4293	6488	SO:0001819	synonymous_variant	29106			AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.1143A>G	chr15.hg19:g.51993377A>G			A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	hg19	CCDS10142.1																																																																																				0.413	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		G	51993377	A	G	51993377	2	3	231	1	0	0	0	0	0	0	0	1	13898	233	9	3		3	SCG3	15	51993377	Silent	SNP	A	TCGA-B1-5398-01A-02D-1589-08		51993377	50538015	79	14093											
SRRM2	23524	hgsc.bcm.edu	37	16	2807812	2807812	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:2807812A>T	ENST00000301740.8	+	4	930	c.381A>T	c.(379-381)ttA>ttT	p.L127F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	127					mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						tggcagaattaaatgagaaga	0.443																																																0													92	99	96					16																	2807812		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.381A>T	chr16.hg19:g.2807812A>T	ENSP00000301740:p.Leu127Phe		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.997285	0.35226	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.23348	1.91	4.96	1.41	0.22369	.	0.000000	0.40908	D	0.000991	T	0.25232	0.0613	N	0.14661	0.345	0.28270	N	0.924446	D	0.69078	0.997	D	0.63488	0.915	T	0.04900	-1.0919	10	0.51188	T	0.08	-4.0677	7.5072	0.27551	0.3974:0.0:0.6026:0.0	.	127	Q9UQ35	SRRM2_HUMAN	F	127;127;31;92	ENSP00000301740:L127F	ENSP00000301740:L127F	L	+	3	2	SRRM2	2747813	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.918000	0.28678	0.497000	0.27926	-0.414000	0.06135	TTA		0.443	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2807812	A	T	2807812	3	4	231	1	0	0	0	0	1	0	0	0	15174	359	13	5	391	5	SRRM2	16	2807812	Missense_Mutation	SNP	A	TCGA-B1-5398-01A-02D-1589-08		2807812	87546941	80	14094											
XPO6	23214	hgsc.bcm.edu	37	16	28157419	28157419	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:28157419T>A	ENST00000304658.5	-	9	1830	c.1330A>T	c.(1330-1332)Aac>Tac	p.N444Y	XPO6_ENST00000565698.1_Missense_Mutation_p.N430Y	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	444					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTTTACCTGTTGAGAACTGCT	0.398																																																0													209	195	199					16																	28157419		1880	4095	5975	SO:0001583	missense	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1330A>T	chr16.hg19:g.28157419T>A	ENSP00000302790:p.Asn444Tyr		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	hg19	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.507676	0.44558	.	.	ENSG00000169180	ENST00000304658	T	0.47528	0.84	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.197221	0.52532	D	0.000061	T	0.33702	0.0872	L	0.29908	0.895	0.39270	D	0.964376	P;P	0.48162	0.906;0.79	B;B	0.41723	0.272;0.365	T	0.24012	-1.0172	10	0.42905	T	0.14	.	7.6658	0.28430	0.0:0.0948:0.0:0.9052	.	444;444	B7ZM10;Q96QU8	.;XPO6_HUMAN	Y	444	ENSP00000302790:N444Y	ENSP00000302790:N444Y	N	-	1	0	XPO6	28064920	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.790000	0.62453	1.925000	0.55765	0.524000	0.50904	AAC		0.398	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		A	28157419	T	A	28157419	3	1	231	1	0	0	0	0	1	0	0	0	17453	1812	63	5	2111	5	XPO6	16	28157419	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	25349607	28157419	62197334	81	14095											
SRCAP	10847	hgsc.bcm.edu	37	16	30723210	30723210	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:30723210delA	ENST00000262518.4	+	12	1932	c.1547delA	c.(1546-1548)gaafs	p.E516fs	SRCAP_ENST00000395059.2_Frame_Shift_Del_p.E516fs|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.E516fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	516	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGGAGGAAGAAACAAGTGGA	0.473																																																0													74	71	72					16																	30723210		2197	4300	6497	SO:0001589	frameshift_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1547delA	chr16.hg19:g.30723210delA	ENSP00000262518:p.Glu516fs		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	hg19	CCDS10689.2																																																																																				0.473	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		-	30723210	A	-	30723210	7	5	231	1	0	1	0	1	0	0	0	0	15140	246	9	0	1585	0	SRCAP	16	30723210	Frame_Shift_Del	DEL	A	TCGA-B1-5398-01A-02D-1589-08	2565791	30723210	59631543	82	14096											
ZNF646	9726	hgsc.bcm.edu	37	16	31090723	31090723	+	Silent	SNP	G	G	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:31090723G>A	ENST00000394979.2	+	1	3501	c.3078G>A	c.(3076-3078)gaG>gaA	p.E1026E	ZNF646_ENST00000300850.5_Silent_p.E1026E			O15015	ZN646_HUMAN	zinc finger protein 646	1026					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGTCTCAAGAGGGAGCAGGCA	0.587																																																0													121	118	119					16																	31090723		2197	4300	6497	SO:0001819	synonymous_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3078G>A	chr16.hg19:g.31090723G>A			Q8IVD8	Silent	SNP	ENST00000394979.2	hg19																																																																																					0.587	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		A	31090723	G	A	31090723	2	1	231	1	0	0	0	0	0	0	0	1	18067	991	35	2		2	ZNF646	16	31090723	Silent	SNP	G	TCGA-B1-5398-01A-02D-1589-08	367513	31090723	59264030	83	14097											
CNOT1	23019	hgsc.bcm.edu	37	16	58633189	58633190	+	Frame_Shift_Ins	INS	-	-	CCAC			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:58633189_58633190insCCAC	ENST00000317147.5	-	2	384_385	c.52_53insGTGG	c.(52-54)gacfs	p.D18fs	CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.D18fs|CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.D18fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	18				D -> G (in Ref. 1; CAD97851). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGTTAAATTGTCCACCAGGTAG	0.49																																																0																																										SO:0001589	frameshift_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.49_52dupGTGG	chr16.hg19:g.58633190_58633193dupCCAC	ENSP00000320949:p.Asp18fs		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	ENST00000317147.5	hg19	CCDS10799.1																																																																																				0.49	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		CCAC	58633190	-	CCAC	58633189	7	5	231	1	0	1	1	0	0	0	0	0	3619	1667	58	0	7491	0	CNOT1	16	58633189	Frame_Shift_Ins	INS	-	TCGA-B1-5398-01A-02D-1589-08	27542466	58633189	31721564	84	14098											
HAS3	3038	hgsc.bcm.edu	37	16	69143465	69143465	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:69143465T>A	ENST00000306560.1	+	2	323	c.167T>A	c.(166-168)cTg>cAg	p.L56Q	HAS3_ENST00000569188.1_Missense_Mutation_p.L56Q|HAS3_ENST00000219322.3_Missense_Mutation_p.L56Q	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	56					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGCCTGCACCTGCTCATTCAG	0.657																																																0													93	79	84					16																	69143465		2198	4300	6498	SO:0001583	missense	3038			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.167T>A	chr16.hg19:g.69143465T>A	ENSP00000304440:p.Leu56Gln		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	hg19	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.778165	0.90195	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	T;T	0.55930	0.49;0.63	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.959;0.999	T	0.77370	-0.2613	10	0.87932	D	0	12.4482	15.438	0.75162	0.0:0.0:0.0:1.0	.	56;56	O00219;O00219-2	HAS3_HUMAN;.	Q	56	ENSP00000219322:L56Q;ENSP00000304440:L56Q	ENSP00000219322:L56Q	L	+	2	0	HAS3	67700966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.924000	0.87555	2.143000	0.66587	0.459000	0.35465	CTG		0.657	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		A	69143465	T	A	69143465	3	1	231	1	0	0	0	0	1	0	0	0	6965	1580	55	5	169	5	HAS3	16	69143465	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	10510276	69143465	21211288	85	14099											
SLC38A8	146167	hgsc.bcm.edu	37	16	84063153	84063153	+	Silent	SNP	A	A	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:84063153A>G	ENST00000299709.3	-	5	635	c.636T>C	c.(634-636)ccT>ccC	p.P212P		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	212					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCAGGAGGCAGGGCTGTAAA	0.493																																																0													94	92	93					16																	84063153		2200	4300	6500	SO:0001819	synonymous_variant	146167				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.636T>C	chr16.hg19:g.84063153A>G				Silent	SNP	ENST00000299709.3	hg19	CCDS32495.1																																																																																				0.493	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		G	84063153	A	G	84063153	2	3	231	1	0	0	0	0	0	0	0	1	14616	175	7	3		3	SLC38A8	16	84063153	Silent	SNP	A	TCGA-B1-5398-01A-02D-1589-08	14919688	84063153	6291600	86	14100											
TMEM220	388335	hgsc.bcm.edu	37	17	10626593	10626593	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr17:10626593G>C	ENST00000341871.3	-	5	805	c.341C>G	c.(340-342)tCc>tGc	p.S114C	TMEM220_ENST00000455996.2_Missense_Mutation_p.S104C|TMEM220_ENST00000578345.1_Intron|TMEM220_ENST00000580186.1_5'UTR	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	114						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						TTACTTTGAGGAACTGTGGCA	0.468																																																0													163	145	151					17																	10626593		2203	4300	6503	SO:0001583	missense	388335				CCDS32567.1	17p13.1	2008-08-08			ENSG00000187824	ENSG00000187824			33757	protein-coding gene	gene with protein product							Standard	NM_001004313		Approved		uc002gmx.3	Q6QAJ8		ENST00000341871.3:c.341C>G	chr17.hg19:g.10626593G>C	ENSP00000339830:p.Ser114Cys		A1YRJ4|B2RNE4|B4DJ52|B9EGW3	Missense_Mutation	SNP	ENST00000341871.3	hg19	CCDS32567.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205169	0.58234	.	.	ENSG00000187824	ENST00000341871;ENST00000455996	.	.	.	5.63	4.66	0.58398	.	0.096587	0.41938	D	0.000796	T	0.77046	0.4073	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.948;0.998	T	0.79403	-0.1818	9	0.87932	D	0	-22.2883	11.3464	0.49563	0.0848:0.0:0.9152:0.0	.	104;114	Q6QAJ8-2;Q6QAJ8	.;TM220_HUMAN	C	114;104	.	ENSP00000339830:S114C	S	-	2	0	TMEM220	10567318	1.000000	0.71417	0.137000	0.22149	0.714000	0.41099	3.006000	0.49529	1.379000	0.46325	0.563000	0.77884	TCC		0.468	TMEM220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440333.1	NM_001004313		C	10626593	G	C	10626593	3	2	231	1	0	0	0	0	1	0	0	0	16149	1174	41	4	149	4	TMEM220	17	10626593	Missense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08		10626593	70568617	87	14101											
FBXW10	10517	hgsc.bcm.edu	37	17	18653137	18653137	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr17:18653137T>A	ENST00000395665.4	+	3	994	c.773T>A	c.(772-774)tTg>tAg	p.L258*	FBXW10_ENST00000395667.1_Nonsense_Mutation_p.L258*|FBXW10_ENST00000301938.4_Nonsense_Mutation_p.L258*|FBXW10_ENST00000308799.4_Nonsense_Mutation_p.L258*			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	258										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGCAATCTATTGGTTGACCTG	0.468																																																0													146	115	126					17																	18653137		2203	4300	6503	SO:0001587	stop_gained	10517			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.773T>A	chr17.hg19:g.18653137T>A	ENSP00000379025:p.Leu258*		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Nonsense_Mutation	SNP	ENST00000395665.4	hg19	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	T	37	6.578584	0.97680	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	.	.	.	2.49	2.49	0.30216	.	0.395534	0.14928	U	0.290234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5156	0.33244	0.0:0.0:0.0:1.0	.	.	.	.	X	258	.	ENSP00000306937:L258X	L	+	2	0	FBXW10	18593862	0.026000	0.19158	0.002000	0.10522	0.803000	0.45373	1.573000	0.36472	1.144000	0.42321	0.333000	0.21579	TTG		0.468	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		A	18653137	T	A	18653137	4	1	231	1	0	0	0	0	0	1	0	0	5765	1821	63	5	783	5	FBXW10	17	18653137	Nonsense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	8026544	18653137	62542073	88	14102											
DHX58	79132	hgsc.bcm.edu	37	17	40262859	40262859	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr17:40262859T>A	ENST00000251642.3	-	5	665	c.443A>T	c.(442-444)cAg>cTg	p.Q148L		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	148	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCTAGGTACTGGCTCATGAT	0.612																																																0													189	163	172					17																	40262859		2203	4300	6503	SO:0001583	missense	79132			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.443A>T	chr17.hg19:g.40262859T>A	ENSP00000251642:p.Gln148Leu		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	hg19	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.653438	0.47362	.	.	ENSG00000108771	ENST00000251642;ENST00000423748;ENST00000413196;ENST00000430773	T;T;T	0.33438	3.64;1.41;1.94	4.93	-2.66	0.06077	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.568788	0.18403	N	0.142315	T	0.17874	0.0429	N	0.17800	0.525	0.19575	N	0.999962	B;B	0.22746	0.074;0.007	B;B	0.27500	0.08;0.015	T	0.22487	-1.0215	10	0.36615	T	0.2	.	11.295	0.49274	0.0:0.5209:0.0:0.4791	.	141;148	B7Z455;Q96C10	.;DHX58_HUMAN	L	148;111;148;148	ENSP00000251642:Q148L;ENSP00000416389:Q148L;ENSP00000404639:Q148L	ENSP00000251642:Q148L	Q	-	2	0	DHX58	37516385	0.000000	0.05858	0.973000	0.42090	0.876000	0.50452	-0.928000	0.03980	-0.318000	0.08665	-1.063000	0.02288	CAG		0.612	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		A	40262859	T	A	40262859	3	1	231	1	0	0	0	0	1	0	0	0	4516	1580	55	5	1633	5	DHX58	17	40262859	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08	21609722	40262859	40932351	89	14103											
MYO5B	4645	hgsc.bcm.edu	37	18	47375980	47375980	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr18:47375980T>A	ENST00000285039.7	-	32	4571	c.4272A>T	c.(4270-4272)aaA>aaT	p.K1424N	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.K539N|MYO5B_ENST00000592688.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1424					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAGTTGCTTTTTGAGCTTCC	0.483																																																0													336	326	330					18																	47375980		1961	4155	6116	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4272A>T	chr18.hg19:g.47375980T>A	ENSP00000285039:p.Lys1424Asn		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	hg19	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929283	0.73327	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.27720	1.65;1.65	4.63	-8.81	0.00813	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	M	0.75615	2.305	0.45914	D	0.998753	D;D	0.89917	0.999;1.0	D;D	0.85130	0.986;0.997	T	0.70737	-0.4790	10	0.42905	T	0.14	.	18.1767	0.89764	0.0:0.7032:0.0:0.2968	.	1424;539	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	N	1424;539	ENSP00000285039:K1424N;ENSP00000315531:K539N	ENSP00000285039:K1424N	K	-	3	2	MYO5B	45629978	0.939000	0.31865	0.188000	0.23233	0.960000	0.62799	0.054000	0.14205	-1.861000	0.01153	-0.441000	0.05720	AAA		0.483	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			A	47375980	T	A	47375980	3	1	231	1	0	0	0	0	1	0	0	0	10081	1838	64	5	1310	5	MYO5B	18	47375980	Missense_Mutation	SNP	T	TCGA-B1-5398-01A-02D-1589-08		47375980	30701268	90	14104											
ZNF254	9534	hgsc.bcm.edu	37	19	24309780	24309780	+	Silent	SNP	A	A	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:24309780A>G	ENST00000357002.4	+	4	1093	c.978A>G	c.(976-978)gaA>gaG	p.E326E	ZNF254_ENST00000342944.6_Silent_p.E241E	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	326					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGTGTGAAGAATGTGGCAAAG	0.388																																																0													50	50	50					19																	24309780		2203	4300	6503	SO:0001819	synonymous_variant	9534			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.978A>G	chr19.hg19:g.24309780A>G			A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	hg19	CCDS32983.1																																																																																				0.388	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		G	24309780	A	G	24309780	2	3	231	1	0	0	0	0	0	0	0	1	17803	98	4	3		3	ZNF254	19	24309780	Silent	SNP	A	TCGA-B1-5398-01A-02D-1589-08		24309780	34819203	91	14105											
UBA2	10054	hgsc.bcm.edu	37	19	34924279	34924279	+	Missense_Mutation	SNP	G	G	A	rs370848936		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:34924279G>A	ENST00000246548.4	+	4	390	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	UBA2_ENST00000439527.2_Missense_Mutation_p.R11Q	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	107					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAATTTTTCCGACAGTTTATA	0.308																																																0								G	GLN/ARG	0,4404		0,0,2202	98	105	103		320	4.6	1	19		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBA2	NM_005499.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	107/641	34924279	1,13003	2202	4300	6502	SO:0001583	missense	10054			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.320G>A	chr19.hg19:g.34924279G>A	ENSP00000246548:p.Arg107Gln		B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	hg19	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.582155	0.46006	0.0	1.16E-4	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.29917	1.55;1.55	5.65	4.62	0.57501	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.111742	0.56097	D	0.000021	T	0.15132	0.0365	N	0.11000	0.08	0.47621	D	0.99947	B	0.20459	0.045	B	0.15484	0.013	T	0.09207	-1.0685	10	0.16896	T	0.51	-8.9388	9.9261	0.41494	0.1577:0.0:0.8423:0.0	.	107	Q9UBT2	SAE2_HUMAN	Q	107;11	ENSP00000246548:R107Q;ENSP00000437484:R11Q	ENSP00000246548:R107Q	R	+	2	0	UBA2	39616119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.620000	0.67736	1.396000	0.46663	0.591000	0.81541	CGA		0.308	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		A	34924279	G	A	34924279	3	1	231	1	0	0	0	0	1	0	0	0	16833	1058	37	1	334	1	UBA2	19	34924279	Missense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	10614499	34924279	24204704	92	14106											
LAIR1	3903	hgsc.bcm.edu	37	19	54872527	54872527	+	Silent	SNP	C	C	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:54872527C>A	ENST00000391742.2	-	3	512	c.360G>T	c.(358-360)gtG>gtT	p.V120V	LAIR1_ENST00000348231.4_Silent_p.V120V|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000391743.3_Silent_p.V102V|LAIR1_ENST00000313038.6_Silent_p.V113V|LAIR1_ENST00000474878.1_Silent_p.V119V|LAIR1_ENST00000434277.2_Silent_p.V119V			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	120					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCTCACCTTTCACCAGCAGCT	0.582																																																0													105	100	102					19																	54872527		2203	4300	6503	SO:0001819	synonymous_variant	3903			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.360G>T	chr19.hg19:g.54872527C>A				Silent	SNP	ENST00000391742.2	hg19	CCDS12891.1																																																																																				0.582	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			A	54872527	C	A	54872527	2	1	231	1	0	0	0	0	0	0	0	1	8604	813	29	4		4	LAIR1	19	54872527	Silent	SNP	C	TCGA-B1-5398-01A-02D-1589-08	19948248	54872527	4256456	93	14107											
ZNF773	374928	hgsc.bcm.edu	37	19	58018029	58018029	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:58018029G>A	ENST00000282292.4	+	4	706	c.566G>A	c.(565-567)aGg>aAg	p.R189K	ZNF773_ENST00000598770.1_Missense_Mutation_p.R188K|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GCTGGAAAAAGGCATTACAAA	0.473																																																0													48	48	48					19																	58018029		2203	4297	6500	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.566G>A	chr19.hg19:g.58018029G>A	ENSP00000282292:p.Arg189Lys		Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	hg19	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	1.360	-0.589074	0.03799	.	.	ENSG00000152439	ENST00000282292	T	0.21543	2.0	1.25	0.169	0.15017	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	N	0.05259	-0.085	0.09310	N	1	B;B	0.28233	0.204;0.01	B;B	0.27076	0.076;0.003	T	0.36744	-0.9735	9	0.02654	T	1	.	4.9147	0.13840	0.3681:0.0:0.6319:0.0	.	188;189	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	K	189	ENSP00000282292:R189K	ENSP00000282292:R189K	R	+	2	0	ZNF773	62709841	0.000000	0.05858	0.006000	0.13384	0.429000	0.31625	-0.057000	0.11768	0.097000	0.17492	0.313000	0.20887	AGG		0.473	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		A	58018029	G	A	58018029	3	1	231	1	0	0	0	0	1	0	0	0	18151	1000	35	2	580	2	ZNF773	19	58018029	Missense_Mutation	SNP	G	TCGA-B1-5398-01A-02D-1589-08	3145502	58018029	1110954	94	14108	107	2									
ZNF773	374928	hgsc.bcm.edu	37	19	58018032	58018032	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:58018032A>G	ENST00000282292.4	+	4	709	c.569A>G	c.(568-570)cAt>cGt	p.H190R	ZNF773_ENST00000598770.1_Missense_Mutation_p.H189R|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GGAAAAAGGCATTACAAATGC	0.473																																																0													49	49	49					19																	58018032		2203	4297	6500	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.569A>G	chr19.hg19:g.58018032A>G	ENSP00000282292:p.His190Arg		Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	hg19	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	A	1.777	-0.482865	0.04383	.	.	ENSG00000152439	ENST00000282292	T	0.07327	3.2	1.25	0.141	0.14811	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	N	0.13098	0.295	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.40098	-0.9581	9	0.66056	D	0.02	.	3.1074	0.06346	0.3454:0.4308:0.0:0.2238	.	189;190	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	R	190	ENSP00000282292:H190R	ENSP00000282292:H190R	H	+	2	0	ZNF773	62709844	0.000000	0.05858	0.002000	0.10522	0.468000	0.32798	-0.492000	0.06467	-0.023000	0.13963	0.260000	0.18958	CAT		0.473	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		G	58018032	A	G	58018032	3	3	231	1	0	0	0	0	1	0	0	0	18151	217	8	3	583	3	ZNF773	19	58018032	Missense_Mutation	SNP	A	TCGA-B1-5398-01A-02D-1589-08	3	58018032	1110951	95	14109	107	2									
COL18A1	80781	hgsc.bcm.edu	37	21	46902710	46902710	+	Splice_Site	SNP	G	G	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr21:46902710G>A	ENST00000359759.4	+	14	2942	c.2921G>A	c.(2920-2922)gGt>gAt	p.G974D	COL18A1_ENST00000400337.2_Splice_Site_p.G559D|COL18A1_ENST00000355480.5_Splice_Site_p.G739D			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	974	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCGTACAGGGTGAAGCAGGC	0.592																																																0													116	125	122					21																	46902710		2050	4191	6241	SO:0001630	splice_region_variant	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2920-1G>A	chr21.hg19:g.46902710G>A			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	hg19		.	.	.	.	.	.	.	.	.	.	G	14.50	2.553832	0.45487	.	.	ENSG00000182871	ENST00000400337;ENST00000355480;ENST00000359759	D;D;D	0.99532	-5.77;-6.1;-6.1	2.62	2.62	0.31277	.	.	.	.	.	D	0.99651	0.9871	H	0.95294	3.65	0.39801	D	0.972573	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98225	1.0480	9	0.87932	D	0	.	8.8912	0.35434	0.0:0.0:1.0:0.0	.	974;739;559	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	D	559;739;974	ENSP00000383191:G559D;ENSP00000347665:G739D;ENSP00000352798:G974D	ENSP00000347665:G739D	G	+	2	0	COL18A1	45727138	0.971000	0.33674	0.522000	0.27862	0.058000	0.15608	1.738000	0.38207	1.799000	0.52666	0.549000	0.68633	GGT		0.592	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		Missense_Mutation	A	46902710	G	A	46902710	5	1	231	1	0	0	0	0	0	0	1	0	3677	1275	44	2	3089	2	COL18A1	21	46902710	Splice_Site	SNP	G	TCGA-B1-5398-01A-02D-1589-08		46902710	1227185	96	14110											
MCHR1	2847	hgsc.bcm.edu	37	22	41076973	41076973	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr22:41076973A>T	ENST00000249016.4	+	2	1006	c.310A>T	c.(310-312)Agc>Tgc	p.S104C	MCHR1_ENST00000381433.2_Missense_Mutation_p.S104C|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	104					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TCGCACGGGGAGCATCTCCTA	0.567																																																0													139	105	117					22																	41076973		2203	4300	6503	SO:0001583	missense	2847				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.310A>T	chr22.hg19:g.41076973A>T	ENSP00000249016:p.Ser104Cys		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	hg19	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	A	8.701	0.909808	0.17833	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.38077	1.16;1.16	4.87	3.77	0.43336	.	0.596448	0.17749	N	0.163281	T	0.21631	0.0521	N	0.14661	0.345	0.22866	N	0.998638	P	0.39576	0.679	B	0.37047	0.24	T	0.11421	-1.0588	10	0.59425	D	0.04	.	10.4074	0.44272	0.8375:0.1625:0.0:0.0	.	104	Q99705	MCHR1_HUMAN	C	104	ENSP00000249016:S104C;ENSP00000370841:S104C	ENSP00000249016:S104C	S	+	1	0	MCHR1	39406919	0.902000	0.30710	0.457000	0.27056	0.381000	0.30169	1.471000	0.35365	1.959000	0.56917	0.533000	0.62120	AGC		0.567	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		T	41076973	A	T	41076973	3	4	231	1	0	0	0	0	1	0	0	0	9384	304	11	5	316	5	MCHR1	22	41076973	Missense_Mutation	SNP	A	TCGA-B1-5398-01A-02D-1589-08		41076973	10227593	97	14111											
CELSR1	9620	hgsc.bcm.edu	37	22	46790151	46790151	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr22:46790151A>T	ENST00000262738.3	-	14	5851	c.5852T>A	c.(5851-5853)cTt>cAt	p.L1951H		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1951	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGGCACGGAAGGTCGAGTCT	0.567																																																0													40	39	39					22																	46790151		2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5852T>A	chr22.hg19:g.46790151A>T	ENSP00000262738:p.Leu1951His		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	hg19	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	A	8.280	0.815341	0.16607	.	.	ENSG00000075275	ENST00000262738	D	0.92199	-2.99	3.47	3.47	0.39725	.	0.204155	0.30011	U	0.010631	D	0.92831	0.7720	L	0.40543	1.245	0.80722	D	1	D;B	0.76494	0.999;0.048	D;B	0.68765	0.96;0.025	D	0.92188	0.5757	10	0.48119	T	0.1	.	11.945	0.52924	1.0:0.0:0.0:0.0	.	272;1951	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	H	1951	ENSP00000262738:L1951H	ENSP00000262738:L1951H	L	-	2	0	CELSR1	45168815	0.967000	0.33354	0.996000	0.52242	0.436000	0.31835	2.258000	0.43249	1.360000	0.45960	0.379000	0.24179	CTT		0.567	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46790151	A	T	46790151	3	4	231	1	0	0	0	0	1	0	0	0	3223	72	3	5	3280	5	CELSR1	22	46790151	Missense_Mutation	SNP	A	TCGA-B1-5398-01A-02D-1589-08	5713178	46790151	4514415	98	14112											
TMEM201	199953	hgsc.bcm.edu	37	1	9656944	9656944	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr1:9656944G>A	ENST00000340381.6	+	3	271	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	TMEM201_ENST00000340305.5_Missense_Mutation_p.A88T|TMEM201_ENST00000377376.4_Missense_Mutation_p.A88T	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	88					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGATCCCCGCCCAGTACTT	0.672																																																0													66	60	62					1																	9656944		2203	4300	6503	SO:0001583	missense	199953				CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.262G>A	chr1.hg19:g.9656944G>A	ENSP00000344503:p.Ala88Thr		B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	hg19	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	G	36	5.608642	0.96626	.	.	ENSG00000188807	ENST00000377376;ENST00000340305;ENST00000340381	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.952	T	0.79090	-0.1946	9	0.59425	D	0.04	-25.3478	16.0587	0.80822	0.0:0.0:1.0:0.0	.	88;88	E9PBR6;Q5SNT2-2	.;.	T	88	.	ENSP00000344772:A88T	A	+	1	0	TMEM201	9579531	1.000000	0.71417	0.952000	0.39060	0.975000	0.68041	9.102000	0.94226	2.447000	0.82792	0.655000	0.94253	GCC		0.672	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		A	9656944	G	A	9656944	3	1	232	1	0	0	0	0	1	0	0	0	16131	1087	38	1	272	1	TMEM201	1	9656944	Missense_Mutation	SNP	G	TCGA-B1-7332-01A-11D-2136-08		9656944	239593677	1	14113											
HNRNPCL1	343069	hgsc.bcm.edu	37	1	12907282	12907285	+	Frame_Shift_Del	DEL	GGTG	GGTG	-	rs139731855|rs149796618|rs148930640		TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	GGTG	GGTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr1:12907282_12907285delGGTG	ENST00000317869.6	-	2	1083_1086	c.858_861delCACC	c.(856-861)agcaccfs	p.ST286fs		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	286						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S286R(1)|p.T287A(1)|p.T287T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CCTGGCCATTGGTGCTGTCTCTGT	0.436																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	stomach(2)|lung(1)																																								SO:0001589	frameshift_variant	343069			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.858_861delCACC	chr1.hg19:g.12907282_12907285delGGTG	ENSP00000365370:p.Ser286fs		B2RP44	Frame_Shift_Del	DEL	ENST00000317869.6	hg19	CCDS30591.1																																																																																				0.436	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		-	12907285	GGTG	-	12907282	7	5	232	1	0	1	0	1	0	0	0	0	7265	1335	47	0	22	0	HNRNPCL1	1	12907282	Frame_Shift_Del	DEL	GGTG	TCGA-B1-7332-01A-11D-2136-08	3250338	12907282	236343339	2	14114											
ZBTB40	9923	hgsc.bcm.edu	37	1	22850847	22850847	+	Silent	SNP	C	C	A			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr1:22850847C>A	ENST00000375647.4	+	17	3642	c.3435C>A	c.(3433-3435)acC>acA	p.T1145T	ZBTB40_ENST00000404138.1_Silent_p.T1145T|ZBTB40_ENST00000374651.4_Silent_p.T1033T	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1145					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AACTCTTCACCTCCCAGGCCC	0.577																																																0													78	76	76					1																	22850847		2203	4300	6503	SO:0001819	synonymous_variant	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3435C>A	chr1.hg19:g.22850847C>A			O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	hg19	CCDS224.1																																																																																				0.577	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		A	22850847	C	A	22850847	2	1	232	1	0	0	0	0	0	0	0	1	17547	668	24	4		4	ZBTB40	1	22850847	Silent	SNP	C	TCGA-B1-7332-01A-11D-2136-08	9943565	22850847	226399774	3	14115											
DLGAP3	58512	hgsc.bcm.edu	37	1	35365842	35365842	+	Silent	SNP	G	G	A	rs149715442		TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr1:35365842G>A	ENST00000373347.1	-	4	1408	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	DLGAP3_ENST00000235180.4_Silent_p.T380T			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	380					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.T380T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCTTGCCACCGGTGGGGTAAC	0.612																																																1	Substitution - coding silent(1)	lung(1)						G		1,4405	2.1+/-5.4	0,1,2202	85	86	86		1140	-0.6	1	1	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	DLGAP3	NM_001080418.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		380/980	35365842	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1140C>T	chr1.hg19:g.35365842G>A			Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	hg19	CCDS30670.1																																																																																				0.612	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		A	35365842	G	A	35365842	2	1	232	1	0	0	0	0	0	0	0	1	4563	1103	39	1		1	DLGAP3	1	35365842	Silent	SNP	G	TCGA-B1-7332-01A-11D-2136-08	12514995	35365842	213884779	4	14116											
ROR1	4919	hgsc.bcm.edu	37	1	64603076	64603076	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr1:64603076C>A	ENST00000371079.1	+	5	882	c.507C>A	c.(505-507)ttC>ttA	p.F169L	ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.F169L|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	169	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AAGATGGATTCTGTCAGCCAT	0.443																																																0													162	158	159					1																	64603076		2203	4300	6503	SO:0001583	missense	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.507C>A	chr1.hg19:g.64603076C>A	ENSP00000360120:p.Phe169Leu		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	hg19	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651034	0.67472	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.75154	0.01;-0.91	6.07	5.16	0.70880	Frizzled domain (1);	0.000000	0.44902	D	0.000404	T	0.59211	0.2177	L	0.59436	1.845	0.80722	D	1	B;B	0.33477	0.413;0.243	B;B	0.35114	0.196;0.068	T	0.67233	-0.5722	10	0.72032	D	0.01	.	9.7049	0.40209	0.0:0.8053:0.0:0.1947	.	169;169	Q01973;Q66K77	ROR1_HUMAN;.	L	169;169;172	ENSP00000360121:F169L;ENSP00000360120:F169L	ENSP00000360120:F169L	F	+	3	2	ROR1	64375664	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.658000	0.37376	1.571000	0.49722	0.655000	0.94253	TTC		0.443	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		A	64603076	C	A	64603076	3	1	232	1	0	0	0	0	1	0	0	0	13532	912	32	4	525	4	ROR1	1	64603076	Missense_Mutation	SNP	C	TCGA-B1-7332-01A-11D-2136-08	29237234	64603076	184647545	5	14117											
ATP1B1	481	hgsc.bcm.edu	37	1	169096573	169096573	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr1:169096573A>T	ENST00000367816.1	+	5	1023	c.494A>T	c.(493-495)gAa>gTa	p.E165V	ATP1B1_ENST00000499679.3_Missense_Mutation_p.E109V|ATP1B1_ENST00000367815.4_Missense_Mutation_p.E165V|ATP1B1_ENST00000367813.3_Missense_Mutation_p.E157V			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	165					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TTAAATGATGAAACTTATGGC	0.393																																																0													104	101	102					1																	169096573		2203	4300	6503	SO:0001583	missense	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.494A>T	chr1.hg19:g.169096573A>T	ENSP00000356790:p.Glu165Val		Q5TGZ3	Missense_Mutation	SNP	ENST00000367816.1	hg19	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849985	0.32699	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	6.02	4.84	0.62591	.	0.673655	0.16466	N	0.213169	T	0.17450	0.0419	L	0.55481	1.735	0.25560	N	0.987001	B	0.11235	0.004	B	0.12156	0.007	T	0.06058	-1.0848	9	0.48119	T	0.1	-7.8189	12.903	0.58135	0.7578:0.2422:0.0:0.0	.	165	P05026	AT1B1_HUMAN	V	165;165;109;157	ENSP00000356790:E165V;ENSP00000356789:E165V;ENSP00000423450:E109V;ENSP00000356787:E157V	ENSP00000356787:E157V	E	+	2	0	ATP1B1	167363197	0.003000	0.15002	0.866000	0.34008	0.333000	0.28666	1.278000	0.33179	2.311000	0.77944	0.533000	0.62120	GAA		0.393	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			T	169096573	A	T	169096573	3	4	232	1	0	0	0	0	1	0	0	0	1132	246	9	5	508	5	ATP1B1	1	169096573	Missense_Mutation	SNP	A	TCGA-B1-7332-01A-11D-2136-08	104493497	169096573	80154048	6	14118											
NMNAT2	23057	hgsc.bcm.edu	37	1	183253891	183253891	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr1:183253891G>C	ENST00000287713.6	-	6	817	c.483C>G	c.(481-483)agC>agG	p.S161R	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Missense_Mutation_p.S156R	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	161					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AGCAGATCCGGCTGAGGCTTT	0.542																																																0													58	59	59					1																	183253891		2203	4300	6503	SO:0001583	missense	23057			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"chromosome 1 open reading frame 15"	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.483C>G	chr1.hg19:g.183253891G>C	ENSP00000287713:p.Ser161Arg		O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	ENST00000287713.6	hg19	CCDS1353.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.757497	0.49468	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.97430	-4.38;-4.24	5.32	5.32	0.75619	Cytidylyltransferase (1);	0.248777	0.46758	D	0.000270	D	0.94945	0.8365	N	0.08118	0	0.44254	D	0.997101	D;P;B	0.62365	0.991;0.918;0.226	D;P;B	0.64877	0.93;0.604;0.246	D	0.92751	0.6216	10	0.16420	T	0.52	-14.3221	13.3395	0.60537	0.0777:0.0:0.9223:0.0	.	161;161;156	A8K5S5;Q9BZQ4;Q9BZQ4-2	.;NMNA2_HUMAN;.	R	161;156	ENSP00000287713:S161R;ENSP00000294868:S156R	ENSP00000287713:S161R	S	-	3	2	NMNAT2	181520514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.939000	0.28978	2.498000	0.84270	0.561000	0.74099	AGC		0.542	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			C	183253891	G	C	183253891	3	2	232	1	0	0	0	0	1	0	0	0	10501	1194	42	4	464	4	NMNAT2	1	183253891	Missense_Mutation	SNP	G	TCGA-B1-7332-01A-11D-2136-08	14157318	183253891	65996730	7	14119											
C1orf107	27042	hgsc.bcm.edu	37	1	210006621	210006621	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr1:210006621delA	ENST00000491415.2	+	4	537	c.480delA	c.(478-480)gcafs	p.A160fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	160	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TCACAGATGCAAAACACGAGT	0.478																																																0													113	103	107					1																	210006621		2203	4300	6503	SO:0001589	frameshift_variant	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.480delA	chr1.hg19:g.210006621delA	ENSP00000419005:p.Ala160fs		O75992|Q4VY00|Q63HL9	Frame_Shift_Del	DEL	ENST00000491415.2	hg19	CCDS1493.1																																																																																				0.478	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		-	210006621	A	-	210006621	7	5	232	1	0	1	0	1	0	0	0	0	1983	117	5	0	494	0	C1orf107	1	210006621	Frame_Shift_Del	DEL	A	TCGA-B1-7332-01A-11D-2136-08	26752730	210006621	39244000	8	14120											
USH2A	7399	hgsc.bcm.edu	37	1	215953196	215953196	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr1:215953196T>C	ENST00000307340.3	-	55	11314	c.10928A>G	c.(10927-10929)cAt>cGt	p.H3643R	USH2A_ENST00000366943.2_Missense_Mutation_p.H3643R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3643	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTGACCGTATGCTGTCTCCT	0.483										HNSCC(13;0.011)																																						0													156	130	139					1																	215953196		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10928A>G	chr1.hg19:g.215953196T>C	ENSP00000305941:p.His3643Arg		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808890	0.70797	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57273	0.41;0.41	5.9	5.9	0.94986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000296	T	0.71273	0.3320	M	0.73598	2.24	0.40934	D	0.984414	D	0.76494	0.999	D	0.68483	0.958	T	0.71547	-0.4560	10	0.35671	T	0.21	.	16.3217	0.82953	0.0:0.0:0.0:1.0	.	3643	O75445	USH2A_HUMAN	R	3643	ENSP00000305941:H3643R;ENSP00000355910:H3643R	ENSP00000305941:H3643R	H	-	2	0	USH2A	214019819	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.390000	0.73204	2.251000	0.74343	0.528000	0.53228	CAT		0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	215953196	T	C	215953196	3	2	232	1	0	0	0	0	1	0	0	0	17041	1464	51	3	4752	3	USH2A	1	215953196	Missense_Mutation	SNP	T	TCGA-B1-7332-01A-11D-2136-08	5946575	215953196	33297425	9	14121											
IARS2	55699	hgsc.bcm.edu	37	1	220267643	220267643	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr1:220267643T>C	ENST00000302637.5	+	1	189	c.85T>C	c.(85-87)Tgc>Cgc	p.C29R	IARS2_ENST00000366922.1_5'UTR	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	29					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CCGCCTTCCCTGCAGCCCGGG	0.711																																																0													13	18	16					1																	220267643		2185	4287	6472	SO:0001583	missense	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.85T>C	chr1.hg19:g.220267643T>C	ENSP00000303279:p.Cys29Arg		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	hg19	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	T	8.040	0.763710	0.15914	.	.	ENSG00000067704	ENST00000302637	T	0.16457	2.34	4.13	-6.24	0.02046	.	0.684586	0.13548	N	0.379704	T	0.11239	0.0274	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11372	-1.0590	10	0.35671	T	0.21	-6.2347	11.9767	0.53096	0.1113:0.6427:0.0:0.246	.	29	Q9NSE4	SYIM_HUMAN	R	29	ENSP00000303279:C29R	ENSP00000303279:C29R	C	+	1	0	IARS2	218334266	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.122000	0.03267	-1.621000	0.01562	-0.353000	0.07706	TGC		0.711	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		C	220267643	T	C	220267643	3	2	232	1	0	0	0	0	1	0	0	0	7476	1580	55	3	87	3	IARS2	1	220267643	Missense_Mutation	SNP	T	TCGA-B1-7332-01A-11D-2136-08	4314447	220267643	28982978	10	14122											
LRP2	4036	hgsc.bcm.edu	37	2	170058174	170058174	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr2:170058174A>G	ENST00000263816.3	-	44	8701	c.8416T>C	c.(8416-8418)Tgc>Cgc	p.C2806R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2806	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTATCATGGCAGTTGTCTACA	0.428																																																0													145	134	138					2																	170058174		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8416T>C	chr2.hg19:g.170058174A>G	ENSP00000263816:p.Cys2806Arg		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386704	0.82902	.	.	ENSG00000081479	ENST00000263816	D	0.99919	-8.0	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.99953	0.9980	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96044	0.9026	10	0.87932	D	0	.	16.3678	0.83341	1.0:0.0:0.0:0.0	.	2806	P98164	LRP2_HUMAN	R	2806	ENSP00000263816:C2806R	ENSP00000263816:C2806R	C	-	1	0	LRP2	169766420	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.195000	0.94971	2.254000	0.74563	0.528000	0.53228	TGC		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170058174	A	G	170058174	3	3	232	1	0	0	0	0	1	0	0	0	8958	188	7	3	5695	3	LRP2	2	170058174	Missense_Mutation	SNP	A	TCGA-B1-7332-01A-11D-2136-08		170058174	73141199	11	14123											
SLC25A12	8604	hgsc.bcm.edu	37	2	172691265	172691266	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr2:172691265_172691266delGC	ENST00000422440.2	-	7	759_760	c.722_723delGC	c.(721-723)ggcfs	p.G241fs	SLC25A12_ENST00000392592.4_Frame_Shift_Del_p.G134fs	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	241					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CTTTCCTTGTGCCAGCTAGAGT	0.361																																																0																																										SO:0001589	frameshift_variant	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.722_723delGC	chr2.hg19:g.172691265_172691266delGC	ENSP00000388658:p.Gly241fs		B3KR64|Q96AM8	Frame_Shift_Del	DEL	ENST00000422440.2	hg19	CCDS33327.1																																																																																				0.361	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		-	172691266	GC	-	172691265	7	5	232	1	0	1	0	1	0	0	0	0	14480	1306	46	0	1361	0	SLC25A12	2	172691265	Frame_Shift_Del	DEL	GC	TCGA-B1-7332-01A-11D-2136-08	2633091	172691265	70508108	12	14124											
FZD7	8324	hgsc.bcm.edu	37	2	202900338	202900338	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr2:202900338G>A	ENST00000286201.1	+	1	1029	c.968G>A	c.(967-969)gGc>gAc	p.G323D	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	323					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCGGACGATGGCTACCGCACG	0.627											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													66	65	65					2																	202900338		2203	4300	6503	SO:0001583	missense	8324			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.968G>A	chr2.hg19:g.202900338G>A	ENSP00000286201:p.Gly323Asp	2133	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	hg19	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572271	0.45798	.	.	ENSG00000155760	ENST00000286201	D	0.81739	-1.53	5.54	5.54	0.83059	GPCR, family 2-like (1);	0.178643	0.48286	D	0.000181	D	0.83344	0.5234	M	0.85462	2.755	0.53688	D	0.999975	B	0.12013	0.005	B	0.18561	0.022	T	0.79317	-0.1853	10	0.24483	T	0.36	.	19.4882	0.95039	0.0:0.0:1.0:0.0	.	323	O75084	FZD7_HUMAN	D	323	ENSP00000286201:G323D	ENSP00000286201:G323D	G	+	2	0	FZD7	202608583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.698000	0.54771	2.618000	0.88619	0.563000	0.77884	GGC		0.627	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		A	202900338	G	A	202900338	3	1	232	1	0	0	0	0	1	0	0	0	6137	1203	42	2	970	2	FZD7	2	202900338	Missense_Mutation	SNP	G	TCGA-B1-7332-01A-11D-2136-08	30209073	202900338	40299035	13	14125											
UGT1A9	54600	hgsc.bcm.edu	37	2	234580593	234580593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr2:234580593delG	ENST00000354728.4	+	1	95	c.13delG	c.(13-15)gggfs	p.G5fs	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Frame_Shift_Del_p.G5fs			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	5					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GGCTTGCACAGGGTGGACCAG	0.557																																																0													66	61	63					2																	234580593		2203	4300	6503	SO:0001589	frameshift_variant	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.13delG	chr2.hg19:g.234580593delG	ENSP00000346768:p.Gly5fs		B8K285|P36509|Q9HAX0	Frame_Shift_Del	DEL	ENST00000354728.4	hg19	CCDS2505.1																																																																																				0.557	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		-	234580593	G	-	234580593	7	5	232	1	0	1	0	1	0	0	0	0	16957	1000	35	0	15	0	UGT1A9	2	234580593	Frame_Shift_Del	DEL	G	TCGA-B1-7332-01A-11D-2136-08	31680255	234580593	8618780	14	14126											
COL6A3	1293	hgsc.bcm.edu	37	2	238289848	238289848	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr2:238289848A>G	ENST00000295550.4	-	5	2059	c.1607T>C	c.(1606-1608)cTa>cCa	p.L536P	COL6A3_ENST00000353578.4_Missense_Mutation_p.L330P|COL6A3_ENST00000346358.4_Missense_Mutation_p.L536P|COL6A3_ENST00000392004.3_Missense_Mutation_p.L330P|COL6A3_ENST00000392003.2_Missense_Mutation_p.L129P|COL6A3_ENST00000409809.1_Missense_Mutation_p.L330P|COL6A3_ENST00000472056.1_Missense_Mutation_p.L129P|COL6A3_ENST00000347401.3_Missense_Mutation_p.L335P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	536	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTCGTGAATAGGTTGTTACG	0.547																																																0													73	83	80					2																	238289848		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1607T>C	chr2.hg19:g.238289848A>G	ENSP00000295550:p.Leu536Pro		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.239904	0.39598	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.6	5.6	0.85130	von Willebrand factor, type A (3);	0.138230	0.32161	N	0.006489	D	0.92848	0.7725	M	0.75150	2.29	0.43907	D	0.996547	D;D;P;P;D;D	0.69078	0.989;0.997;0.953;0.953;0.993;0.989	P;D;P;P;D;P	0.70227	0.883;0.968;0.905;0.898;0.935;0.883	D	0.93510	0.6852	10	0.66056	D	0.02	.	15.7932	0.78384	1.0:0.0:0.0:0.0	.	536;129;129;330;330;536	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	P	536;335;330;129;330;536;330;129;536	ENSP00000295550:L536P;ENSP00000315609:L335P;ENSP00000315873:L330P;ENSP00000418285:L129P;ENSP00000386844:L330P;ENSP00000295546:L536P;ENSP00000375861:L330P;ENSP00000375860:L129P;ENSP00000389539:L536P	ENSP00000295550:L536P	L	-	2	0	COL6A3	237954587	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	5.769000	0.68865	2.124000	0.65301	0.533000	0.62120	CTA		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		G	238289848	A	G	238289848	3	3	232	1	0	0	0	0	1	0	0	0	3703	420	15	3	8133	3	COL6A3	2	238289848	Missense_Mutation	SNP	A	TCGA-B1-7332-01A-11D-2136-08	3709255	238289848	4909525	15	14127											
ZDHHC3	51304	hgsc.bcm.edu	37	3	44986685	44986687	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr3:44986685_44986687delTGA	ENST00000424952.2	-	3	672_674	c.404_406delTCA	c.(403-408)atcaag>aag	p.I135del	ZDHHC3_ENST00000296127.3_In_Frame_Del_p.I135del|ZDHHC3_ENST00000342790.4_In_Frame_Del_p.I169del	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	135					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CGGTCGGGCTTGATGCTGCAGCA	0.591																																																0																																										SO:0001651	inframe_deletion	51304			AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"Zinc fingers, DHHC-type"	18470	protein-coding gene	gene with protein product	"golgi-specific DHHC Zinc Finger Protein"					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.404_406delTCA	chr3.hg19:g.44986685_44986687delTGA	ENSP00000395502:p.Ile135del		Q53A17|Q96BL0	In_Frame_Del	DEL	ENST00000424952.2	hg19	CCDS46811.1																																																																																				0.591	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598		-	44986687	TGA	-	44986685	7	5	232	1	0	1	0	1	0	0	0	0	17621	1821	63	0	854	0	ZDHHC3	3	44986685	In_Frame_Del	DEL	TGA	TCGA-B1-7332-01A-11D-2136-08		44986685	153035745	16	14128											
DAG1	1605	hgsc.bcm.edu	37	3	49568799	49568799	+	Silent	SNP	A	A	G			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr3:49568799A>G	ENST00000539901.1	+	3	1413	c.855A>G	c.(853-855)gcA>gcG	p.A285A	DAG1_ENST00000308775.2_Silent_p.A285A|DAG1_ENST00000545947.1_Silent_p.A285A|DAG1_ENST00000538711.1_Silent_p.A285A|DAG1_ENST00000515359.2_Silent_p.A285A|DAG1_ENST00000541308.1_Silent_p.A285A	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	285	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGAGGGCGCAATGTCTGCTC	0.597																																																0													82	77	79					3																	49568799		2203	4300	6503	SO:0001819	synonymous_variant	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.855A>G	chr3.hg19:g.49568799A>G			A8K6M7|Q969J9	Silent	SNP	ENST00000539901.1	hg19	CCDS2799.1																																																																																				0.597	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			G	49568799	A	G	49568799	2	3	232	1	0	0	0	0	0	0	0	1	4227	117	5	3		3	DAG1	3	49568799	Silent	SNP	A	TCGA-B1-7332-01A-11D-2136-08	4582114	49568799	148453631	17	14129											
DHX15	1665	hgsc.bcm.edu	37	4	24543620	24543620	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr4:24543620delT	ENST00000336812.4	-	8	1517	c.1361delA	c.(1360-1362)gagfs	p.E454fs	DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	454	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAAAAGGGACTCAACTCTGAT	0.423																																																0													91	90	91					4																	24543620		2203	4300	6503	SO:0001589	frameshift_variant	1665			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1361delA	chr4.hg19:g.24543620delT	ENSP00000336741:p.Glu454fs		Q9NQT7	Frame_Shift_Del	DEL	ENST00000336812.4	hg19	CCDS33966.1																																																																																				0.423	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		-	24543620	T	-	24543620	7	5	232	1	0	1	0	1	0	0	0	0	4503	1551	54	0	1054	0	DHX15	4	24543620	Frame_Shift_Del	DEL	T	TCGA-B1-7332-01A-11D-2136-08		24543620	166610656	18	14130											
C4orf51	646603	hgsc.bcm.edu	37	4	146653660	146653660	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr4:146653660C>T	ENST00000438731.1	+	6	557	c.557C>T	c.(556-558)gCt>gTt	p.A186V	C4orf51_ENST00000508981.1_3'UTR	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	186										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						GATTCAGAAGCTGATCGATAC	0.488																																																0													66	67	67					4																	146653660		1941	4147	6088	SO:0001583	missense	646603				CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.557C>T	chr4.hg19:g.146653660C>T	ENSP00000391404:p.Ala186Val			Missense_Mutation	SNP	ENST00000438731.1	hg19	CCDS47140.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842007	0.32513	.	.	ENSG00000237136	ENST00000438731	.	.	.	3.65	-2.95	0.05564	.	.	.	.	.	T	0.15565	0.0375	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.16867	-1.0388	8	0.45353	T	0.12	.	4.9044	0.13791	0.0:0.3232:0.3035:0.3734	.	186	C9J302	CD051_HUMAN	V	186	.	ENSP00000391404:A186V	A	+	2	0	C4orf51	146873110	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-0.547000	0.06055	-0.767000	0.04633	-0.391000	0.06502	GCT		0.488	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		T	146653660	C	T	146653660	3	4	232	1	0	0	0	0	1	0	0	0	2279	797	28	2	579	2	C4orf51	4	146653660	Missense_Mutation	SNP	C	TCGA-B1-7332-01A-11D-2136-08	122110040	146653660	44500616	19	14131											
POU4F2	5458	hgsc.bcm.edu	37	4	147561825	147561825	+	Silent	SNP	C	C	T			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr4:147561825C>T	ENST00000281321.3	+	2	1343	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	365					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCTACTTTGCCATTCAGCCTC	0.587																																																0													65	70	68					4																	147561825		2203	4300	6503	SO:0001819	synonymous_variant	5458			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1095C>T	chr4.hg19:g.147561825C>T			B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	hg19	CCDS34074.1																																																																																				0.587	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		T	147561825	C	T	147561825	2	4	232	1	0	0	0	0	0	0	0	1	12281	581	21	2		2	POU4F2	4	147561825	Silent	SNP	C	TCGA-B1-7332-01A-11D-2136-08	908165	147561825	43592451	20	14132											
RNASEN	29102	hgsc.bcm.edu	37	5	31409241	31409241	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr5:31409241T>C	ENST00000511367.2	-	32	4020	c.3776A>G	c.(3775-3777)aAt>aGt	p.N1259S	DROSHA_ENST00000513349.1_Missense_Mutation_p.N1222S|DROSHA_ENST00000442743.1_Missense_Mutation_p.N1222S|DROSHA_ENST00000344624.3_Missense_Mutation_p.N1259S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1259	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TTTGGGGTCATTCCAATCCTG	0.433																																																0													70	66	67					5																	31409241		1857	4109	5966	SO:0001583	missense	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3776A>G	chr5.hg19:g.31409241T>C	ENSP00000425979:p.Asn1259Ser		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	hg19	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.527326	0.85706	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.34	5.34	0.76211	Ribonuclease III (2);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	M	0.67953	2.075	0.80722	D	1	D;P	0.62365	0.991;0.683	P;B	0.58331	0.837;0.18	T	0.63453	-0.6634	10	0.72032	D	0.01	-23.6224	15.3311	0.74212	0.0:0.0:0.0:1.0	.	1222;1259	E7EMP9;Q9NRR4	.;RNC_HUMAN	S	1259;1259;1222;1222;1184	ENSP00000425979:N1259S;ENSP00000339845:N1259S;ENSP00000409335:N1222S;ENSP00000424161:N1222S	ENSP00000265075:N1184S	N	-	2	0	DROSHA	31444998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.030000	0.59900	0.533000	0.62120	AAT		0.433	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		C	31409241	T	C	31409241	3	2	232	1	0	0	0	0	1	0	0	0	13423	1493	52	3	364	3	RNASEN	5	31409241	Missense_Mutation	SNP	T	TCGA-B1-7332-01A-11D-2136-08		31409241	149506019	21	14133											
POLR3G	10622	hgsc.bcm.edu	37	5	89797779	89797779	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr5:89797779A>G	ENST00000399107.1	+	6	612	c.412A>G	c.(412-414)Act>Gct	p.T138A	POLR3G_ENST00000504930.1_Missense_Mutation_p.T138A	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	138					cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		ACTCACTAATACTGAAGATGT	0.383																																																0													72	68	69					5																	89797779		1862	4108	5970	SO:0001583	missense	10622			U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"RNA polymerase subunits"	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.412A>G	chr5.hg19:g.89797779A>G	ENSP00000382058:p.Thr138Ala		A8MTH0	Missense_Mutation	SNP	ENST00000399107.1	hg19	CCDS43337.1	.	.	.	.	.	.	.	.	.	.	A	7.354	0.623448	0.14193	.	.	ENSG00000113356	ENST00000503373;ENST00000399107;ENST00000504930	.	.	.	5.76	-3.4	0.04853	.	1.429180	0.04034	N	0.301916	T	0.23410	0.0566	L	0.36672	1.1	0.09310	N	1	P	0.40144	0.704	B	0.39217	0.294	T	0.13361	-1.0512	9	0.09084	T	0.74	-1.7336	4.8923	0.13733	0.305:0.4951:0.0729:0.127	.	138	O15318	RPC7_HUMAN	A	138	.	ENSP00000382058:T138A	T	+	1	0	POLR3G	89833535	0.039000	0.19947	0.000000	0.03702	0.135000	0.20990	0.724000	0.25954	-0.710000	0.05001	-0.316000	0.08728	ACT		0.383	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370462.1	NM_006467		G	89797779	A	G	89797779	3	3	232	1	0	0	0	0	1	0	0	0	12236	391	14	3	430	3	POLR3G	5	89797779	Missense_Mutation	SNP	A	TCGA-B1-7332-01A-11D-2136-08	58388538	89797779	91117481	22	14134											
C6orf105	84830	hgsc.bcm.edu	37	6	11735821	11735821	+	Silent	SNP	G	G	A			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr6:11735821G>A	ENST00000414691.3	-	4	896	c.486C>T	c.(484-486)gcC>gcT	p.A162A	ADTRP_ENST00000229583.5_Silent_p.A180A|ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000379413.2_Silent_p.A162A	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											AAGCAATGCTGGCAGCAGCCA	0.483																																																0													66	60	62					6																	11735821		2203	4300	6503	SO:0001819	synonymous_variant	84830			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.486C>T	chr6.hg19:g.11735821G>A			B2R7T9|B4DV39|Q5THW1	Silent	SNP	ENST00000414691.3	hg19	CCDS4521.1																																																																																				0.483	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		A	11735821	G	A	11735821	2	1	232	1	0	0	0	0	0	0	0	1	2320	1335	47	2		2	C6orf105	6	11735821	Silent	SNP	G	TCGA-B1-7332-01A-11D-2136-08		11735821	159379246	23	14135											
MET	4233	hgsc.bcm.edu	37	7	116422117	116422117	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr7:116422117T>A	ENST00000318493.6	+	18	3839	c.3652T>A	c.(3652-3654)Ttt>Att	p.F1218I	MET_ENST00000397752.3_Missense_Mutation_p.F1200I|MET_ENST00000539704.1_Missense_Mutation_p.F70I			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F1218V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAGCAAAAAGTTTGTCCACAG	0.393			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)											57	55	56					7																	116422117		1836	4092	5928	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3652T>A	chr7.hg19:g.116422117T>A	ENSP00000317272:p.Phe1218Ile		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735740	0.89482	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.25414	1.8;1.8;1.8	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	N	0.16862	0.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35201	-0.9798	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	1218;1200	P08581-2;P08581	.;MET_HUMAN	I	1200;1218;70	ENSP00000380860:F1200I;ENSP00000317272:F1218I;ENSP00000445020:F70I	ENSP00000317272:F1218I	F	+	1	0	MET	116209353	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.972000	0.88022	2.371000	0.80710	0.533000	0.62120	TTT		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116422117	T	A	116422117	3	1	232	1	0	0	0	0	1	0	0	0	9487	1725	60	5	3718	5	MET	7	116422117	Missense_Mutation	SNP	T	TCGA-B1-7332-01A-11D-2136-08		116422117	42716546	24	14136											
DOCK5	80005	hgsc.bcm.edu	37	8	25226181	25226181	+	Silent	SNP	C	C	A			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr8:25226181C>A	ENST00000276440.7	+	33	3422	c.3378C>A	c.(3376-3378)ccC>ccA	p.P1126P		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1126					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCACAATCCCCATTTTCTTTG	0.443																																					Pancreas(145;34 1887 3271 10937 30165)											0													73	71	72					8																	25226181		2203	4300	6503	SO:0001819	synonymous_variant	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3378C>A	chr8.hg19:g.25226181C>A			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	hg19	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	9.817	1.184776	0.21870	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.8	4.93	0.64822	.	.	.	.	.	T	0.60612	0.2282	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59010	-0.7534	4	.	.	.	.	9.6931	0.40141	0.0:0.6721:0.257:0.0709	.	.	.	.	N	898	.	.	H	+	1	0	DOCK5	25282098	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.603000	0.24149	1.461000	0.47929	0.655000	0.94253	CAT		0.443	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		A	25226181	C	A	25226181	2	1	232	1	0	0	0	0	0	0	0	1	4692	581	21	4		4	DOCK5	8	25226181	Silent	SNP	C	TCGA-B1-7332-01A-11D-2136-08		25226181	121137841	25	14137											
TRPS1	7227	hgsc.bcm.edu	37	8	116631588	116631588	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr8:116631588C>T	ENST00000220888.5	-	2	857	c.698G>A	c.(697-699)gGc>gAc	p.G233D	TRPS1_ENST00000519076.1_Missense_Mutation_p.G187D|TRPS1_ENST00000520276.1_Missense_Mutation_p.G237D|TRPS1_ENST00000395715.3_Missense_Mutation_p.G246D|TRPS1_ENST00000519674.1_Missense_Mutation_p.G233D			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	233					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGGGTCGTTGCCGTAGTAACC	0.483									Langer-Giedion syndrome																																							0													113	113	113					8																	116631588		1958	4180	6138	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.698G>A	chr8.hg19:g.116631588C>T	ENSP00000220888:p.Gly233Asp		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	hg19		.	.	.	.	.	.	.	.	.	.	C	22.7	4.320687	0.81469	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.02797	-1.1109	10	0.87932	D	0	0.3311	19.5324	0.95234	0.0:1.0:0.0:0.0	.	237;233;246	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	D	246;233;187;237;233	ENSP00000379065:G246D;ENSP00000220888:G233D;ENSP00000428910:G187D;ENSP00000428680:G237D;ENSP00000429174:G233D	ENSP00000220888:G233D	G	-	2	0	TRPS1	116700763	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.818000	0.86416	2.619000	0.88677	0.460000	0.39030	GGC		0.483	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		T	116631588	C	T	116631588	3	4	232	1	0	0	0	0	1	0	0	0	16598	739	26	2	3167	2	TRPS1	8	116631588	Missense_Mutation	SNP	C	TCGA-B1-7332-01A-11D-2136-08	91405407	116631588	29732434	26	14138											
ATAD2	29028	hgsc.bcm.edu	37	8	124382171	124382185	+	In_Frame_Del	DEL	TCATCATCATCATCG	TCATCATCATCATCG	-	rs139406007|rs539981908|rs370549201|rs200543112|rs117211505|rs113160199|rs148244463	byFrequency	TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	TCATCATCATCATCG	TCATCATCATCATCG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr8:124382171_124382185delTCATCATCATCATCG	ENST00000287394.5	-	7	914_928	c.807_821delCGATGATGATGATGA	c.(805-822)gacgatgatgatgatgat>gat	p.269_274DDDDDD>D	ATAD2_ENST00000521903.1_De_novo_Start_InFrame|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	269	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			atcatcatcatcatcatcatcatcgtcatcatcat	0.372																																																0																																										SO:0001651	inframe_deletion	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.807_821delCGATGATGATGATGA	chr8.hg19:g.124382171_124382185delTCATCATCATCATCG	ENSP00000287394:p.Asp269_Asp273del		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	In_Frame_Del	DEL	ENST00000287394.5	hg19	CCDS6343.1																																																																																				0.372	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		-	124382185	TCATCATCATCATCG	-	124382171	7	5	232	1	0	1	0	1	0	0	0	0	1071	1435	50	0	3439	0	ATAD2	8	124382171	In_Frame_Del	DEL	TCATCATCATCATCG	TCGA-B1-7332-01A-11D-2136-08	7750583	124382171	21981851	27	14139											
EPPK1	83481	hgsc.bcm.edu	37	8	144941596	144941596	+	Silent	SNP	G	G	A	rs576788732		TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr8:144941596G>A	ENST00000525985.1	-	2	5897	c.5826C>T	c.(5824-5826)gaC>gaT	p.D1942D				P58107	EPIPL_HUMAN	epiplakin 1	1942						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTGCAGGGGTCCAGGAGGA	0.637																																																0													39	47	44					8																	144941596		1996	4166	6162	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5826C>T	chr8.hg19:g.144941596G>A			Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	hg19																																																																																					0.637	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144941596	G	A	144941596	2	1	232	1	0	0	0	0	0	0	0	1	5192	1252	44	2		2	EPPK1	8	144941596	Silent	SNP	G	TCGA-B1-7332-01A-11D-2136-08	20559425	144941596	1422426	28	14140											
SMU1	55234	hgsc.bcm.edu	37	9	33048146	33048146	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr9:33048146G>C	ENST00000397149.3	-	11	1451	c.1401C>G	c.(1399-1401)taC>taG	p.Y467*	SMU1_ENST00000536631.1_Nonsense_Mutation_p.Y306*	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	467						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TACTGAAACAGTAGAGCACAA	0.443																																																0													117	98	104					9																	33048146		2203	4300	6503	SO:0001587	stop_gained	55234			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.1401C>G	chr9.hg19:g.33048146G>C	ENSP00000380336:p.Tyr467*		B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Nonsense_Mutation	SNP	ENST00000397149.3	hg19	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657265	0.96724	.	.	ENSG00000122692	ENST00000397149;ENST00000536631	.	.	.	5.25	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9692	9.5331	0.39207	0.182:0.0:0.818:0.0	.	.	.	.	X	467;306	.	ENSP00000380336:Y467X	Y	-	3	2	SMU1	33038146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.318000	0.51975	0.648000	0.30732	0.591000	0.81541	TAC		0.443	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		C	33048146	G	C	33048146	4	2	232	1	0	0	0	0	0	1	0	0	14823	1024	36	4	148	4	SMU1	9	33048146	Nonsense_Mutation	SNP	G	TCGA-B1-7332-01A-11D-2136-08		33048146	108165285	29	14141											
FLJ46321	389763	hgsc.bcm.edu	37	9	84607291	84607291	+	Missense_Mutation	SNP	T	T	G	rs201182137	byFrequency	TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr9:84607291T>G	ENST00000344803.2	+	4	1953	c.1906T>G	c.(1906-1908)Ttg>Gtg	p.L636V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	636					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCAGGAAAGTTTGTGGGGCTT	0.478													G|||	3	0.000599042	0.0008	0.0	5008	,	,		19868	0.0		0.001	False		,,,				2504	0.001															0								G	VAL/LEU	0,3730		0,0,1865	101	98	99		1906	-3.7	0	9		99	1,8223		0,1,4111	no	missense	FAM75D1	NM_001001670.2	32	0,1,5976	GG,GT,TT		0.0122,0.0,0.0084	benign	636/1577	84607291	1,11953	1865	4112	5977	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1906T>G	chr9.hg19:g.84607291T>G	ENSP00000341988:p.Leu636Val			Missense_Mutation	SNP	ENST00000344803.2	hg19	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	4.363	0.066840	0.08388	0.0	1.22E-4	ENSG00000214929	ENST00000344803	T	0.05786	3.39	3.83	-3.67	0.04476	.	1.454400	0.04584	N	0.395509	T	0.02970	0.0088	N	0.11023	0.085	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43261	-0.9402	10	0.16420	T	0.52	0.4754	3.7406	0.08528	0.108:0.096:0.4463:0.3497	.	636	Q6ZQQ2	F75D1_HUMAN	V	636	ENSP00000341988:L636V	ENSP00000341988:L636V	L	+	1	2	FAM75D1	83797111	0.011000	0.17503	0.002000	0.10522	0.000000	0.00434	-0.756000	0.04777	-1.293000	0.02362	-0.729000	0.03580	TTG		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		G	84607291	T	G	84607291	3	3	232	1	0	0	0	0	1	0	0	0	5934	1838	64	5	1920	5	FLJ46321	9	84607291	Missense_Mutation	SNP	T	TCGA-B1-7332-01A-11D-2136-08	51559145	84607291	56606140	30	14142											
OR5C1	392391	hgsc.bcm.edu	37	9	125551413	125551413	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr9:125551413G>A	ENST00000373680.2	+	1	264	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	68						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)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTTCTTCCTGGCCAACCTCTC	0.617																																																0													149	139	142					9																	125551413		2203	4300	6503	SO:0001583	missense	392391			AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.202G>A	chr9.hg19:g.125551413G>A	ENSP00000362784:p.Ala68Thr		B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	hg19	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639367	0.47153	.	.	ENSG00000148215	ENST00000373680	T	0.01099	5.34	5.17	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36234	U	0.002710	T	0.00875	0.0029	L	0.28608	0.87	0.28228	N	0.926248	P	0.42827	0.791	B	0.32677	0.15	T	0.51100	-0.8748	10	0.62326	D	0.03	.	4.1132	0.10068	0.0841:0.1619:0.5858:0.1681	.	68	Q8NGR4	OR5C1_HUMAN	T	68	ENSP00000362784:A68T	ENSP00000362784:A68T	A	+	1	0	OR5C1	124591234	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.075000	0.14686	1.391000	0.46566	0.650000	0.86243	GCC		0.617	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			A	125551413	G	A	125551413	3	1	232	1	0	0	0	0	1	0	0	0	11155	1203	42	2	204	2	OR5C1	9	125551413	Missense_Mutation	SNP	G	TCGA-B1-7332-01A-11D-2136-08	40944122	125551413	15662018	31	14143											
KIAA1279	26128	hgsc.bcm.edu	37	10	70749011	70749011	+	Silent	SNP	G	G	C			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr10:70749011G>C	ENST00000361983.4	+	1	525	c.423G>C	c.(421-423)gcG>gcC	p.A141A		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	141					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GCATCCAGGCGCAGGTGAGAG	0.677																																																0													12	15	14					10																	70749011		2196	4277	6473	SO:0001819	synonymous_variant	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.423G>C	chr10.hg19:g.70749011G>C			A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Silent	SNP	ENST00000361983.4	hg19	CCDS7284.1																																																																																				0.677	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		C	70749011	G	C	70749011	2	2	232	1	0	0	0	0	0	0	0	1	8223	1074	38	4		4	KIAA1279	10	70749011	Silent	SNP	G	TCGA-B1-7332-01A-11D-2136-08		70749011	64785736	32	14144											
KATNAL1	84056	hgsc.bcm.edu	37	13	30814673	30814673	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr13:30814673T>C	ENST00000380615.3	-	6	817	c.650A>G	c.(649-651)aAg>aGg	p.K217R	KATNAL1_ENST00000380617.3_Missense_Mutation_p.K217R	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TAGCAACTTCTTAGCTTCTTC	0.363																																																0													112	103	106					13																	30814673		2203	4300	6503	SO:0001583	missense	84056			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"ATPases / AAA-type"	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.650A>G	chr13.hg19:g.30814673T>C	ENSP00000369989:p.Lys217Arg			Missense_Mutation	SNP	ENST00000380615.3	hg19	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	T	33	5.206604	0.95033	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.95656	-3.77;-3.77	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.97685	0.9241	M	0.93678	3.445	0.80722	D	1	D	0.54964	0.969	P	0.53401	0.725	D	0.98333	1.0534	10	0.66056	D	0.02	-18.253	16.5582	0.84512	0.0:0.0:0.0:1.0	.	217	Q9BW62	KATL1_HUMAN	R	217	ENSP00000369989:K217R;ENSP00000369991:K217R	ENSP00000369989:K217R	K	-	2	0	KATNAL1	29712673	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	AAG		0.363	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		C	30814673	T	C	30814673	3	2	232	1	0	0	0	0	1	0	0	0	7987	1609	56	3	846	3	KATNAL1	13	30814673	Missense_Mutation	SNP	T	TCGA-B1-7332-01A-11D-2136-08		30814673	84355205	33	14145											
HEXA	3073	hgsc.bcm.edu	37	15	72637848	72637848	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr15:72637848A>T	ENST00000268097.5	-	13	1968	c.1465T>A	c.(1465-1467)Ttg>Atg	p.L489M	HEXA_ENST00000567159.1_Missense_Mutation_p.L489M|HEXA_ENST00000457859.2_3'UTR|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.L500M	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	489					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCAGATGTCAACTTGTTGCTC	0.567																																																0													148	111	124					15																	72637848		2199	4297	6496	SO:0001583	missense	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1465T>A	chr15.hg19:g.72637848A>T	ENSP00000268097:p.Leu489Met		B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	hg19	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184859	0.38609	.	.	ENSG00000213614	ENST00000268097	D	0.96651	-4.08	5.71	-11.4	0.00090	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	2.683750	0.01267	N	0.009357	D	0.87533	0.6201	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.15930	0.015;0.0;0.006	B;B;B	0.17098	0.017;0.005;0.014	T	0.79351	-0.1839	10	0.51188	T	0.08	4.1018	4.1333	0.10159	0.1012:0.1303:0.3717:0.3968	.	500;369;489	B4DVA7;Q9BVJ8;P06865	.;.;HEXA_HUMAN	M	489	ENSP00000268097:L489M	ENSP00000268097:L489M	L	-	1	2	HEXA	70424902	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.794000	0.04584	-2.858000	0.00328	-0.290000	0.09829	TTG		0.567	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		T	72637848	A	T	72637848	3	4	232	1	0	0	0	0	1	0	0	0	7075	40	2	5	132	5	HEXA	15	72637848	Missense_Mutation	SNP	A	TCGA-B1-7332-01A-11D-2136-08		72637848	29893544	34	14146											
METTL9	51108	hgsc.bcm.edu	37	16	21666647	21666647	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr16:21666647G>T	ENST00000358154.3	+	5	1109	c.851G>T	c.(850-852)gGt>gTt	p.G284V	IGSF6_ENST00000268389.4_5'Flank|METTL9_ENST00000396014.4_Missense_Mutation_p.G283V	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	284										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		AGAAAAGCTGGTTTTGTTATC	0.423																																																0													116	105	109					16																	21666647		2199	4300	6499	SO:0001583	missense	51108			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.851G>T	chr16.hg19:g.21666647G>T	ENSP00000350874:p.Gly284Val		Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	hg19	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309820	0.81247	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84817	0.5556	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.86314	0.1688	9	0.87932	D	0	-12.9082	18.1377	0.89624	0.0:0.0:1.0:0.0	.	283;284	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	V	284;283;248	.	ENSP00000350874:G284V	G	+	2	0	METTL9	21574148	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.445000	0.97587	2.890000	0.99128	0.650000	0.86243	GGT		0.423	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		T	21666647	G	T	21666647	3	4	232	1	0	0	0	0	1	0	0	0	9510	1261	44	4	869	4	METTL9	16	21666647	Missense_Mutation	SNP	G	TCGA-B1-7332-01A-11D-2136-08		21666647	68688106	35	14147											
FAM83G	644815	hgsc.bcm.edu	37	17	18881908	18881908	+	Silent	SNP	G	G	A			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr17:18881908G>A	ENST00000388995.6	-	5	1294	c.1071C>T	c.(1069-1071)gtC>gtT	p.V357V	FAM83G_ENST00000585154.2_Silent_p.V357V|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Silent_p.V357V|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	357					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CAATCTCGTCGACGCTCTTGG	0.627																																																0													67	74	72					17																	18881908		1996	4157	6153	SO:0001819	synonymous_variant	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1071C>T	chr17.hg19:g.18881908G>A			Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	hg19	CCDS42276.1																																																																																				0.627	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			A	18881908	G	A	18881908	2	1	232	1	0	0	0	0	0	0	0	1	5641	1045	37	1		1	FAM83G	17	18881908	Silent	SNP	G	TCGA-B1-7332-01A-11D-2136-08		18881908	62313302	36	14148											
KIAA1267	284058	hgsc.bcm.edu	37	17	44109553	44109553	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr17:44109553A>G	ENST00000262419.6	-	14	3420	c.2950T>C	c.(2950-2952)Tcc>Ccc	p.S984P	KANSL1_ENST00000432791.1_Missense_Mutation_p.S984P|KANSL1_ENST00000393476.3_Missense_Mutation_p.S278P|KANSL1_ENST00000574590.1_Missense_Mutation_p.S984P|KANSL1_ENST00000575318.1_Missense_Mutation_p.S920P|KANSL1_ENST00000572904.1_Missense_Mutation_p.S984P	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	984	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGACCATGGGAGTATTCTGAC	0.632																																																0													54	59	58					17																	44109553		2203	4300	6503	SO:0001583	missense	284058			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2950T>C	chr17.hg19:g.44109553A>G	ENSP00000262419:p.Ser984Pro		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	hg19	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.252579	0.39797	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.26660	2.54;2.54;1.72	5.2	2.98	0.34508	.	0.285019	0.36482	N	0.002570	T	0.16171	0.0389	L	0.33485	1.01	0.33040	D	0.531312	B;B;B;B	0.12013	0.005;0.002;0.004;0.004	B;B;B;B	0.14578	0.01;0.007;0.011;0.011	T	0.20438	-1.0275	10	0.19590	T	0.45	-3.7274	7.0976	0.25319	0.7735:0.1488:0.0778:0.0	.	252;315;984;984	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	P	984;984;278	ENSP00000262419:S984P;ENSP00000387393:S984P;ENSP00000377117:S278P	ENSP00000262419:S984P	S	-	1	0	KIAA1267	41465400	1.000000	0.71417	0.998000	0.56505	0.228000	0.25075	1.224000	0.32539	0.443000	0.26582	-0.429000	0.05907	TCC		0.632	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		G	44109553	A	G	44109553	3	3	232	1	0	0	0	0	1	0	0	0	8221	304	11	3	375	3	KIAA1267	17	44109553	Missense_Mutation	SNP	A	TCGA-B1-7332-01A-11D-2136-08	25227645	44109553	37085657	37	14149											
ZNF652	22834	hgsc.bcm.edu	37	17	47388762	47388762	+	Silent	SNP	A	A	G			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr17:47388762A>G	ENST00000362063.2	-	5	1539	c.1221T>C	c.(1219-1221)caT>caC	p.H407H	ZNF652_ENST00000430262.2_Silent_p.H407H	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TGTGCCCAATATGAATGCTCA	0.433																																																0													271	235	248					17																	47388762		2203	4300	6503	SO:0001819	synonymous_variant	22834			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1221T>C	chr17.hg19:g.47388762A>G			A4QPD9|Q5H9Q0	Silent	SNP	ENST00000362063.2	hg19	CCDS32677.1																																																																																				0.433	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		G	47388762	A	G	47388762	2	3	232	1	0	0	0	0	0	0	0	1	18070	446	16	3		3	ZNF652	17	47388762	Silent	SNP	A	TCGA-B1-7332-01A-11D-2136-08	3279209	47388762	33806448	38	14150											
SMCHD1	23347	hgsc.bcm.edu	37	18	2772342	2772342	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr18:2772342C>T	ENST00000320876.6	+	41	5485	c.5147C>T	c.(5146-5148)aCt>aTt	p.T1716I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.T1716I|snoU13_ENST00000459147.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1716					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCAAACTATACTAAAGGCAGT	0.348																																																0													97	92	94					18																	2772342		1830	4076	5906	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.5147C>T	chr18.hg19:g.2772342C>T	ENSP00000326603:p.Thr1716Ile		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	hg19	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541676	0.27563	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.85411	-1.98;-1.98	5.66	5.66	0.87406	SMCs flexible hinge (1);	0.303958	0.37053	N	0.002277	T	0.75554	0.3865	N	0.22421	0.69	0.37791	D	0.92734	P	0.39391	0.671	B	0.32289	0.143	T	0.75929	-0.3144	10	0.21014	T	0.42	-19.063	19.7468	0.96255	0.0:1.0:0.0:0.0	.	1716	A6NHR9	SMHD1_HUMAN	I	1716	ENSP00000326603:T1716I;ENSP00000261598:T1716I	ENSP00000261598:T1716I	T	+	2	0	SMCHD1	2762342	0.996000	0.38824	0.997000	0.53966	0.780000	0.44128	4.014000	0.57145	2.678000	0.91216	0.563000	0.77884	ACT		0.348	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			T	2772342	C	T	2772342	3	4	232	1	0	0	0	0	1	0	0	0	14794	565	20	2	5309	2	SMCHD1	18	2772342	Missense_Mutation	SNP	C	TCGA-B1-7332-01A-11D-2136-08		2772342	75304906	39	14151											
WIZ	58525	hgsc.bcm.edu	37	19	15558957	15558957	+	Silent	SNP	C	C	T			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr19:15558957C>T	ENST00000389282.4	-	2	375	c.162G>A	c.(160-162)aaG>aaA	p.K54K	MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000263381.7_Silent_p.K54K			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	54					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGGGGCCCTCCTTGGTGACAG	0.647																																																0													68	74	73					19																	15558957		1957	4128	6085	SO:0001819	synonymous_variant	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.162G>A	chr19.hg19:g.15558957C>T			B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	ENST00000389282.4	hg19																																																																																					0.647	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		T	15558957	C	T	15558957	2	4	232	1	0	0	0	0	0	0	0	1	17380	680	24	2		2	WIZ	19	15558957	Silent	SNP	C	TCGA-B1-7332-01A-11D-2136-08		15558957	43570026	40	14152											
PLVAP	83483	hgsc.bcm.edu	37	19	17476947	17476947	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr19:17476947A>C	ENST00000252590.4	-	2	488	c.427T>G	c.(427-429)Tgc>Ggc	p.C143G		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	143					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATCTCTGCATTGCTTCTCA	0.552																																																0													242	205	217					19																	17476947		2203	4300	6503	SO:0001583	missense	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.427T>G	chr19.hg19:g.17476947A>C	ENSP00000252590:p.Cys143Gly		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	hg19	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.268758	0.40095	.	.	ENSG00000130300	ENST00000252590	T	0.29142	1.58	4.06	4.06	0.47325	.	0.379023	0.30455	N	0.009594	T	0.38374	0.1038	L	0.34521	1.04	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.12426	-1.0548	10	0.20519	T	0.43	-58.5488	9.6793	0.40061	1.0:0.0:0.0:0.0	.	143	Q9BX97	PLVAP_HUMAN	G	143	ENSP00000252590:C143G	ENSP00000252590:C143G	C	-	1	0	PLVAP	17337947	0.326000	0.24669	0.096000	0.21009	0.003000	0.03518	3.317000	0.51968	2.071000	0.62044	0.454000	0.30748	TGC		0.552	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		C	17476947	A	C	17476947	3	2	232	1	0	0	0	0	1	0	0	0	12118	217	8	5	921	5	PLVAP	19	17476947	Missense_Mutation	SNP	A	TCGA-B1-7332-01A-11D-2136-08	1917990	17476947	41652036	41	14153											
PRX	57716	hgsc.bcm.edu	37	19	40903295	40903295	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr19:40903295C>T	ENST00000324001.7	-	7	1234	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	322					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)			GTGGGCACCACTACCGACACA	0.687																																																0													13	13	13					19																	40903295		2068	4088	6156	SO:0001583	missense	57716			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.964G>A	chr19.hg19:g.40903295C>T	ENSP00000326018:p.Val322Met		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	hg19	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	1.262	-0.615608	0.03663	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01092	5.35	4.56	1.19	0.21007	.	0.747813	0.11845	N	0.523898	T	0.00608	0.0020	N	0.02539	-0.55	0.09310	N	0.999999	B	0.18610	0.029	B	0.10450	0.005	T	0.47623	-0.9103	10	0.46703	T	0.11	-5.234	4.3329	0.11073	0.0:0.205:0.1751:0.6198	.	322	Q9BXM0	PRAX_HUMAN	M	322	ENSP00000326018:V322M	ENSP00000326018:V322M	V	-	1	0	PRX	45595135	0.003000	0.15002	0.072000	0.20136	0.072000	0.16883	0.502000	0.22594	0.794000	0.33899	-0.367000	0.07326	GTG		0.687	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		T	40903295	C	T	40903295	3	4	232	1	0	0	0	0	1	0	0	0	12647	565	20	2	3425	2	PRX	19	40903295	Missense_Mutation	SNP	C	TCGA-B1-7332-01A-11D-2136-08	23426348	40903295	18225688	42	14154											
APOL5	80831	hgsc.bcm.edu	37	22	36123235	36123235	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chr22:36123235C>T	ENST00000249044.2	+	3	1120	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	374					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TGTGGTTAAACCAGAAGGTAG	0.597																																																0													42	46	45					22																	36123235		2196	4290	6486	SO:0001583	missense	80831			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1120C>T	chr22.hg19:g.36123235C>T	ENSP00000249044:p.Pro374Ser		Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	hg19	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	C	8.430	0.848333	0.17034	.	.	ENSG00000128313	ENST00000249044	T	0.06142	3.34	1.94	-1.84	0.07809	.	3.921800	0.02219	U	0.063822	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.28552	0.215	B	0.23018	0.043	T	0.37911	-0.9685	10	0.87932	D	0	.	4.2557	0.10715	0.0:0.3635:0.4734:0.1631	.	374	Q9BWW9	APOL5_HUMAN	S	374	ENSP00000249044:P374S	ENSP00000249044:P374S	P	+	1	0	APOL5	34453181	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.970000	0.03810	-0.348000	0.08286	0.462000	0.41574	CCA		0.597	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		T	36123235	C	T	36123235	3	4	232	1	0	0	0	0	1	0	0	0	809	507	18	2	1130	2	APOL5	22	36123235	Missense_Mutation	SNP	C	TCGA-B1-7332-01A-11D-2136-08		36123235	15181331	43	14155											
DDX3X	1654	hgsc.bcm.edu	37	X	41203029	41203029	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chrX:41203029G>T	ENST00000399959.2	+	8	1574	c.719G>T	c.(718-720)aGt>aTt	p.S240I	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_Intron|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.S224I|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	240	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CCCATCTTGAGTCAGATTTAT	0.398										HNSCC(61;0.18)																																						0													90	78	82					X																	41203029		1934	4159	6093	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.719G>T	chrX.hg19:g.41203029G>T	ENSP00000382840:p.Ser240Ile		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	hg19	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205754	0.95033	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.15718	2.4;2.4	5.42	5.42	0.78866	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	N	0.20328	0.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.992;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.941;0.932;0.999;0.999	T	0.14643	-1.0465	10	0.87932	D	0	-15.9903	18.5561	0.91085	0.0:0.0:1.0:0.0	.	240;224;240;252;240	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	I	240;224	ENSP00000382840:S240I;ENSP00000392494:S224I	ENSP00000382840:S240I	S	+	2	0	DDX3X	41087973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.636000	0.98440	2.411000	0.81874	0.600000	0.82982	AGT		0.398	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		T	41203029	G	T	41203029	3	4	232	1	0	0	0	0	1	0	0	0	4360	1029	36	4	749	4	DDX3X	23	41203029	Missense_Mutation	SNP	G	TCGA-B1-7332-01A-11D-2136-08		41203029	114067531	44	14156											
ATP11C	286410	hgsc.bcm.edu	37	X	138844142	138844142	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-7332-01A-11D-2136-08	TCGA-B1-7332-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d453dcec-6bab-4b59-a593-ee38835cbe15	9d012012-57fb-4523-a066-ad674ddb3d3f	g.chrX:138844142A>G	ENST00000327569.3	-	22	2725	c.2627T>C	c.(2626-2628)cTt>cCt	p.L876P	ATP11C_ENST00000370543.1_Missense_Mutation_p.L876P|ATP11C_ENST00000359686.2_Missense_Mutation_p.L876P|ATP11C_ENST00000370557.1_Missense_Mutation_p.L870P|ATP11C_ENST00000361648.2_Missense_Mutation_p.L876P|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	876					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GTACTGTACAAGGTGTGCTAT	0.343																																																0													112	100	104					X																	138844142		2203	4300	6503	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2627T>C	chrX.hg19:g.138844142A>G	ENSP00000332756:p.Leu876Pro		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	hg19	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010046	0.75046	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.78394	0.4276	H	0.96518	3.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.85280	0.1061	10	0.72032	D	0.01	.	14.1997	0.65693	1.0:0.0:0.0:0.0	.	876;876;876	Q8NB49-3;Q8NB49;Q8NB49-2	.;AT11C_HUMAN;.	P	870;876;876;876;876	ENSP00000359588:L870P;ENSP00000355165:L876P;ENSP00000332756:L876P;ENSP00000359574:L876P;ENSP00000352715:L876P	ENSP00000332756:L876P	L	-	2	0	ATP11C	138671808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.952000	0.56665	0.441000	0.28932	CTT		0.343	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		G	138844142	A	G	138844142	3	3	232	1	0	0	0	0	1	0	0	0	1121	72	3	3	870	3	ATP11C	23	138844142	Missense_Mutation	SNP	A	TCGA-B1-7332-01A-11D-2136-08	97641113	138844142	16426418	45	14157											
ERRFI1	54206	hgsc.bcm.edu	37	1	8074134	8074135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:8074134_8074135delAG	ENST00000377482.5	-	4	747_748	c.524_525delCT	c.(523-525)actfs	p.T175fs	ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	175					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TATCTGAGCTAGTTAGGAATTC	0.48																																																0																																										SO:0001589	frameshift_variant	54206			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.524_525delCT	chr1.hg19:g.8074134_8074135delAG	ENSP00000366702:p.Thr175fs		B2RDX9|Q9NTG9|Q9UD05	Frame_Shift_Del	DEL	ENST00000377482.5	hg19	CCDS94.1																																																																																				0.48	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		-	8074135	AG	-	8074134	7	5	233	1	0	1	0	1	0	0	0	0	5246	407	15	0	867	0	ERRFI1	1	8074134	Frame_Shift_Del	DEL	AG	TCGA-B1-A47M-01A-11D-A25F-10		8074134	241176487	1	14158											
KDM1A	23028	hgsc.bcm.edu	37	1	23383993	23383993	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:23383993G>A	ENST00000356634.3	+	7	1096	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.R336Q|MIR4419A_ENST00000583845.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.R336Q	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	316	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTGGGTGGACGAGTTGCCACA	0.428																																																0													206	194	198					1																	23383993		2203	4300	6503	SO:0001583	missense	23028			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.947G>A	chr1.hg19:g.23383993G>A	ENSP00000349049:p.Arg316Gln		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	hg19	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	G	36	5.777153	0.96929	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.97710	-4.5;-4.5;-4.5	5.48	5.48	0.80851	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.984;0.991	D	0.99113	1.0847	10	0.87932	D	0	-9.5301	18.3409	0.90304	0.0:0.0:1.0:0.0	.	336;316	O60341-2;O60341	.;KDM1A_HUMAN	Q	316;336;336	ENSP00000349049:R316Q;ENSP00000383042:R336Q;ENSP00000439072:R336Q	ENSP00000349049:R316Q	R	+	2	0	KDM1A	23256580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.634000	0.98435	2.572000	0.86782	0.585000	0.79938	CGA		0.428	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		A	23383993	G	A	23383993	3	1	233	1	0	0	0	0	1	0	0	0	8124	1058	37	1	1037	1	KDM1A	1	23383993	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	15309859	23383993	225866628	2	14159											
GNL2	29889	hgsc.bcm.edu	37	1	38042060	38042060	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:38042060C>T	ENST00000373062.3	-	9	1105	c.1007G>A	c.(1006-1008)tGc>tAc	p.C336Y		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	336	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGCCACGTTGCAAACTTTCTT	0.423																																																0													190	170	177					1																	38042060		2203	4300	6503	SO:0001583	missense	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1007G>A	chr1.hg19:g.38042060C>T	ENSP00000362153:p.Cys336Tyr		Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	hg19	CCDS421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.162979|5.162979	0.94727|0.94727	.|.	.|.	ENSG00000134697|ENSG00000134697	ENST00000538069|ENST00000373062;ENST00000545489	.|T	.|0.13538	.|2.58	6.14|6.14	6.14|6.14	0.99180|0.99180	.|GTP-binding domain, HSR1-related (1);	.|0.041714	.|0.85682	.|D	.|0.000000	T|T	0.55657|0.55657	0.1934|0.1934	H|H	0.96996|0.96996	3.92|3.92	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.70016	.|0.967	T|T	0.69045|0.69045	-0.5249|-0.5249	5|10	.|0.87932	.|D	.|0	-7.4933|-7.4933	20.8597|20.8597	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|336	.|Q13823	.|NOG2_HUMAN	T|Y	188|336;177	.|ENSP00000362153:C336Y	.|ENSP00000362153:C336Y	A|C	-|-	1|2	0|0	GNL2|GNL2	37814647|37814647	1.000000|1.000000	0.71417|0.71417	0.865000|0.865000	0.33974|0.33974	0.986000|0.986000	0.74619|0.74619	7.786000|7.786000	0.85741|0.85741	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCA|TGC		0.423	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		T	38042060	C	T	38042060	3	4	233	1	0	0	0	0	1	0	0	0	6538	710	25	2	1220	2	GNL2	1	38042060	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	14658067	38042060	211208561	3	14160											
GLIS1	148979	hgsc.bcm.edu	37	1	53995548	53995548	+	Silent	SNP	C	C	T	rs549794466		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:53995548C>T	ENST00000312233.2	-	4	1439	c.873G>A	c.(871-873)ccG>ccA	p.P291P		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGCACAGGTACGGCTTCTCGC	0.637																																																0													72	74	74					1																	53995548		2203	4300	6503	SO:0001819	synonymous_variant	148979			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.873G>A	chr1.hg19:g.53995548C>T				Silent	SNP	ENST00000312233.2	hg19	CCDS582.1																																																																																				0.637	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		T	53995548	C	T	53995548	2	4	233	1	0	0	0	0	0	0	0	1	6447	523	19	1		1	GLIS1	1	53995548	Silent	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	15953488	53995548	195255073	4	14161											
SAMD13	148418	hgsc.bcm.edu	37	1	84768963	84768963	+	Missense_Mutation	SNP	G	G	T	rs556493054		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:84768963G>T	ENST00000370671.3	+	2	165	c.106G>T	c.(106-108)Gta>Tta	p.V36L	SAMD13_ENST00000394834.3_Missense_Mutation_p.V16L|SAMD13_ENST00000370669.1_Missense_Mutation_p.V16L|SAMD13_ENST00000370668.3_Missense_Mutation_p.V16L|SAMD13_ENST00000370670.2_Missense_Mutation_p.V16L|SAMD13_ENST00000370673.3_Missense_Mutation_p.V30L			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	36										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CTCTGTCGGTGTAAAAAAGTA	0.408																																																0													72	65	67					1																	84768963		2203	4300	6503	SO:0001583	missense	148418				CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"Sterile alpha motif (SAM) domain containing"	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859	ENST00000370671.3:c.106G>T	chr1.hg19:g.84768963G>T	ENSP00000359705:p.Val36Leu		B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	Missense_Mutation	SNP	ENST00000370671.3	hg19		.	.	.	.	.	.	.	.	.	.	G	10.75	1.439172	0.25900	.	.	ENSG00000203943	ENST00000370673;ENST00000370671;ENST00000394834;ENST00000370669;ENST00000370668;ENST00000370670	.	.	.	5.34	5.34	0.76211	.	0.391477	0.25631	N	0.029344	T	0.18130	0.0435	N	0.24115	0.695	0.80722	D	1	B;B	0.32101	0.032;0.356	B;B	0.27608	0.023;0.081	T	0.06516	-1.0822	9	0.13470	T	0.59	-11.7208	10.4571	0.44557	0.0893:0.0:0.9107:0.0	.	36;30	Q5VXD3;Q5VXD3-2	SAM13_HUMAN;.	L	30;36;16;16;16;16	.	ENSP00000359702:V16L	V	+	1	0	SAMD13	84541551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.486000	0.60286	2.657000	0.90304	0.655000	0.94253	GTA		0.408	SAMD13-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027243.1	NM_001010971		T	84768963	G	T	84768963	3	4	233	1	0	0	0	0	1	0	0	0	13824	1377	48	4	94	4	SAMD13	1	84768963	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	30773415	84768963	164481658	5	14162											
CD58	965	hgsc.bcm.edu	37	1	117078689	117078689	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:117078689T>C	ENST00000369489.5	-	3	592	c.526A>G	c.(526-528)Aag>Gag	p.K176E	CD58_ENST00000369487.3_Missense_Mutation_p.K176E|CD58_ENST00000457047.2_Missense_Mutation_p.K176E	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	176					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TTTTCCATCTTAAAATATATA	0.353																																																0													115	111	112					1																	117078689		2203	4300	6503	SO:0001583	missense	965			BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"CD molecules"	1688	protein-coding gene	gene with protein product		153420	"CD58 antigen, (lymphocyte function-associated antigen 3)"	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.526A>G	chr1.hg19:g.117078689T>C	ENSP00000358501:p.Lys176Glu		A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	ENST00000369489.5	hg19	CCDS888.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835666	0.32421	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	T;T;T	0.41758	0.99;0.99;1.02	3.59	-6.97	0.01616	.	9.277070	0.00166	N	0.000001	T	0.07818	0.0196	L	0.29908	0.895	0.09310	N	1	P;B;P	0.50528	0.936;0.4;0.936	P;B;P	0.45167	0.472;0.118;0.472	T	0.41698	-0.9494	10	0.02654	T	1	.	2.2982	0.04155	0.1357:0.3744:0.2766:0.2133	.	176;176;176	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	E	176	ENSP00000358501:K176E;ENSP00000409080:K176E;ENSP00000358499:K176E	ENSP00000358499:K176E	K	-	1	0	CD58	116880212	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.440000	0.06888	-1.664000	0.01479	-0.290000	0.09829	AAG		0.353	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		C	117078689	T	C	117078689	3	2	233	1	0	0	0	0	1	0	0	0	3027	1763	61	3	246	3	CD58	1	117078689	Missense_Mutation	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10	32309726	117078689	132171932	6	14163											
POGZ	23126	hgsc.bcm.edu	37	1	151381040	151381040	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:151381040G>A	ENST00000271715.2	-	14	2393	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	POGZ_ENST00000392723.1_Silent_p.S640S|POGZ_ENST00000368863.2_Silent_p.S598S|POGZ_ENST00000409503.1_Silent_p.S684S|POGZ_ENST00000361398.3_Silent_p.S640S|POGZ_ENST00000491586.1_Silent_p.S649S|POGZ_ENST00000540984.1_Silent_p.S55S|POGZ_ENST00000531094.1_Silent_p.S631S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	693					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCCCTCGGGAAGCCCGGA	0.532																																																0													90	99	96					1																	151381040		2203	4300	6503	SO:0001819	synonymous_variant	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2079C>T	chr1.hg19:g.151381040G>A			B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	hg19	CCDS997.1																																																																																				0.532	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		A	151381040	G	A	151381040	2	1	233	1	0	0	0	0	0	0	0	1	12188	1219	43	2		2	POGZ	1	151381040	Silent	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	34302351	151381040	97869581	7	14164											
VHLL	391104	hgsc.bcm.edu	37	1	156268771	156268771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:156268771C>T	ENST00000339922.3	-	1	657	c.210G>A	c.(208-210)tgG>tgA	p.W70*		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	70	Beta-domain.									endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					AGTAGTTGAGCCACACAGGCA	0.597																																																0													84	75	78					1																	156268771		2203	4300	6503	SO:0001587	stop_gained	391104					1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"VHL pseudogene"	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.210G>A	chr1.hg19:g.156268771C>T	ENSP00000464258:p.Trp70*		A1L4M4	Nonsense_Mutation	SNP	ENST00000339922.3	hg19																																																																																					0.597	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	NM_001004319		T	156268771	C	T	156268771	4	4	233	1	0	0	0	0	0	1	0	0	17168	740	26	2	213	2	VHLL	1	156268771	Nonsense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	4887731	156268771	92981850	8	14165											
KLHL12	59349	hgsc.bcm.edu	37	1	202866048	202866048	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:202866048G>A	ENST00000367261.3	-	7	1091	c.873C>T	c.(871-873)agC>agT	p.S291S	KLHL12_ENST00000367259.1_Silent_p.S24S|KLHL12_ENST00000435533.3_Silent_p.S329S	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	291					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGACTGCTGGCTTCCAAAGC	0.473																																																0													201	210	207					1																	202866048		2203	4300	6503	SO:0001819	synonymous_variant	59349			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.873C>T	chr1.hg19:g.202866048G>A			A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	ENST00000367261.3	hg19	CCDS1429.1																																																																																				0.473	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		A	202866048	G	A	202866048	2	1	233	1	0	0	0	0	0	0	0	1	8370	1194	42	2		2	KLHL12	1	202866048	Silent	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	46597277	202866048	46384573	9	14166											
C4BPB	725	hgsc.bcm.edu	37	1	207271520	207271520	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:207271520C>A	ENST00000243611.5	+	5	823	c.529C>A	c.(529-531)Cag>Aag	p.Q177K	C4BPB_ENST00000367076.3_Missense_Mutation_p.Q176K|C4BPB_ENST00000391923.1_Missense_Mutation_p.Q177K|C4BPB_ENST00000367078.3_Missense_Mutation_p.Q177K|C4BPB_ENST00000470767.1_3'UTR	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	177	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						CGTGCAGGAGCAGCAATGCGT	0.478																																																0													167	146	153					1																	207271520		2203	4300	6503	SO:0001583	missense	725			L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"complement component 4 binding protein, beta chain", "C4b binding protein, beta chain"	120831	"complement component 4-binding protein, beta"	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.529C>A	chr1.hg19:g.207271520C>A	ENSP00000243611:p.Gln177Lys		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	ENST00000243611.5	hg19	CCDS1476.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763769	0.31228	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.0	3.07	0.35406	Complement control module (2);Sushi/SCR/CCP (3);	0.511839	0.16242	N	0.223086	T	0.60353	0.2262	M	0.62723	1.935	0.09310	N	0.999992	P;P	0.52170	0.951;0.939	P;P	0.52710	0.707;0.583	T	0.53788	-0.8389	10	0.02654	T	1	-3.3863	7.1729	0.25728	0.0:0.7347:0.1719:0.0935	.	177;176	P20851;P20851-2	C4BPB_HUMAN;.	K	177;177;177;176;177	ENSP00000356045:Q177K;ENSP00000392237:Q177K;ENSP00000243611:Q177K;ENSP00000356043:Q176K;ENSP00000375790:Q177K	ENSP00000243611:Q177K	Q	+	1	0	C4BPB	205338143	0.017000	0.18338	0.006000	0.13384	0.024000	0.10985	1.187000	0.32090	1.317000	0.45149	0.655000	0.94253	CAG		0.478	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		A	207271520	C	A	207271520	3	1	233	1	0	0	0	0	1	0	0	0	2252	711	25	4	547	4	C4BPB	1	207271520	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	4405472	207271520	41979101	10	14167											
RPS6KC1	26750	hgsc.bcm.edu	37	1	213251150	213251150	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:213251150T>C	ENST00000366960.3	+	3	404	c.254T>C	c.(253-255)aTa>aCa	p.I85T	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.I73T	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	85	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GCTAAAGGAATAGTGTTTGGT	0.279																																																0													77	74	75					1																	213251150		2202	4294	6496	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.254T>C	chr1.hg19:g.213251150T>C	ENSP00000355927:p.Ile85Thr		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	hg19	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	T	1.213	-0.629208	0.03610	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	T;T	0.38887	1.11;1.11	5.4	0.0644	0.14353	Phox homologous domain (5);	0.247652	0.39909	N	0.001239	T	0.15349	0.0370	N	0.10760	0.04	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.16722	0.016;0.016	T	0.32929	-0.9888	10	0.02654	T	1	1.7807	5.8179	0.18506	0.5179:0.0738:0.0:0.4083	.	85;73	Q96S38;B1APS8	KS6C1_HUMAN;.	T	85;73	ENSP00000355927:I85T;ENSP00000355926:I73T	ENSP00000355926:I73T	I	+	2	0	RPS6KC1	211317773	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	1.559000	0.36320	-0.258000	0.09446	0.533000	0.62120	ATA		0.279	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		C	213251150	T	C	213251150	3	2	233	1	0	0	0	0	1	0	0	0	13664	1406	49	3	264	3	RPS6KC1	1	213251150	Missense_Mutation	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10	5979630	213251150	35999471	11	14168											
TLR5	7100	hgsc.bcm.edu	37	1	223286361	223286361	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:223286361G>A	ENST00000540964.1	-	4	474	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	TLR5_ENST00000342210.6_Silent_p.L5L			O60602	TLR5_HUMAN	toll-like receptor 5	5					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGAAGGTCCAGGTGGTCTCCC	0.498																																																0													37	38	38					1																	223286361		2203	4298	6501	SO:0001819	synonymous_variant	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.13C>T	chr1.hg19:g.223286361G>A			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	hg19	CCDS31033.1																																																																																				0.498	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		A	223286361	G	A	223286361	2	1	233	1	0	0	0	0	0	0	0	1	15959	991	35	2		2	TLR5	1	223286361	Silent	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	10035211	223286361	25964260	12	14169											
TRIB2	28951	hgsc.bcm.edu	37	2	12858616	12858616	+	Silent	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:12858616C>A	ENST00000405331.3	+	1	253	c.183C>A	c.(181-183)atC>atA	p.I61I	RP11-333O1.1_ENST00000569860.1_lincRNA|TRIB2_ENST00000155926.4_Silent_p.I61I|TRIB2_ENST00000381465.2_Intron					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTCTTGTATCGGGAAATACT	0.577											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													74	78	76					2																	12858616		2203	4300	6503	SO:0001819	synonymous_variant	28951			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.183C>A	chr2.hg19:g.12858616C>A		683		Silent	SNP	ENST00000405331.3	hg19																																																																																					0.577	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		A	12858616	C	A	12858616	2	1	233	1	0	0	0	0	0	0	0	1	16488	874	31	4		4	TRIB2	2	12858616	Silent	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10		12858616	230340757	13	14170											
IL1RL2	8808	hgsc.bcm.edu	37	2	102805602	102805602	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:102805602G>A	ENST00000264257.2	+	3	251	c.125G>A	c.(124-126)tGt>tAt	p.C42Y	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.C42Y	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	42	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GCTTTTAATTGTACATTCCCT	0.358																																																0													90	89	89					2																	102805602		2203	4300	6503	SO:0001583	missense	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.125G>A	chr2.hg19:g.102805602G>A	ENSP00000264257:p.Cys42Tyr		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	hg19	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676325	0.67928	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	D;D;D	0.94537	-3.45;-3.45;-3.45	5.86	4.94	0.65067	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.274660	0.40908	D	0.000981	D	0.96448	0.8841	M	0.78637	2.42	0.45867	D	0.998726	D	0.55800	0.973	P	0.62560	0.904	D	0.95878	0.8896	10	0.59425	D	0.04	.	13.5643	0.61807	0.0:0.1562:0.8438:0.0	.	42	Q9HB29	ILRL2_HUMAN	Y	42	ENSP00000264257:C42Y;ENSP00000387611:C42Y;ENSP00000442184:C42Y	ENSP00000264257:C42Y	C	+	2	0	IL1RL2	102172034	0.992000	0.36948	0.966000	0.40874	0.967000	0.64934	3.468000	0.53086	2.937000	0.99478	0.650000	0.86243	TGT		0.358	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		A	102805602	G	A	102805602	3	1	233	1	0	0	0	0	1	0	0	0	7666	1377	48	2	131	2	IL1RL2	2	102805602	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	89946986	102805602	140393771	14	14171											
R3HDM1	23518	hgsc.bcm.edu	37	2	136393707	136393707	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:136393707G>T	ENST00000264160.4	+	11	1227	c.857G>T	c.(856-858)aGa>aTa	p.R286I	R3HDM1_ENST00000409478.1_Missense_Mutation_p.R242I|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R242I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R286I|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R230I	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	286	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATAGAAGAAAGAGAAGAAGAG	0.343																																																0													150	164	159					2																	136393707		2203	4300	6503	SO:0001583	missense	23518			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.857G>T	chr2.hg19:g.136393707G>T	ENSP00000264160:p.Arg286Ile		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	hg19	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.500931|4.500931	0.85176|0.85176	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000456040|ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	.|D;D;D;D;D	.|0.82526	.|-1.62;-1.62;-1.62;-1.62;-1.62	5.58|5.58	4.7|4.7	0.59300|0.59300	.|SUZ domain (1);	.|0.151795	.|0.64402	.|D	.|0.000020	.|D	.|0.90745	.|0.7095	M|M	0.79475|0.79475	2.455|2.455	0.48395|0.48395	D|D	0.999647|0.999647	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.997;0.999;0.998;0.999	.|D	.|0.92028	.|0.5631	.|10	.|0.87932	.|D	.|0	-12.4326|-12.4326	15.055|15.055	0.71908|0.71908	0.0685:0.0:0.9315:0.0|0.0685:0.0:0.9315:0.0	.|.	.|242;286;230;286	.|G5E9G8;E9PBB4;E9PG42;Q15032	.|.;.;.;R3HD1_HUMAN	X|I	269|242;242;286;242;230;286	.|ENSP00000386457:R242I;ENSP00000264160:R286I;ENSP00000331396:R242I;ENSP00000386877:R230I;ENSP00000387010:R286I	.|ENSP00000264160:R286I	E|R	+|+	1|2	0|0	R3HDM1|R3HDM1	136110177|136110177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.821000|0.821000	0.46438|0.46438	7.981000|7.981000	0.88123|0.88123	1.501000|1.501000	0.48654|0.48654	-0.126000|-0.126000	0.14955|0.14955	GAG|AGA		0.343	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		T	136393707	G	T	136393707	3	4	233	1	0	0	0	0	1	0	0	0	12893	942	33	4	891	4	R3HDM1	2	136393707	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	33588105	136393707	106805666	15	14172											
SCN1A	6323	hgsc.bcm.edu	37	2	166848746	166848746	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:166848746A>T	ENST00000303395.4	-	26	5038	c.5039T>A	c.(5038-5040)gTc>gAc	p.V1680D	SCN1A_ENST00000409050.1_Missense_Mutation_p.V1652D|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1669D|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.V1680D			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1680					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATGAACATGACTAGGAAGAG	0.478																																																0													178	164	169					2																	166848746		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5039T>A	chr2.hg19:g.166848746A>T	ENSP00000303540:p.Val1680Asp		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	hg19	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331387	0.81690	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24	5.41	5.41	0.78517	.	0.000000	0.53938	D	0.000051	D	0.99423	0.9796	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98389	1.0562	10	0.87932	D	0	.	15.4593	0.75342	1.0:0.0:0.0:0.0	.	1669	P35498-2	.	D	1680;1680;1669;1652	ENSP00000407030:V1680D;ENSP00000303540:V1680D;ENSP00000364554:V1669D;ENSP00000386312:V1652D	ENSP00000303540:V1680D	V	-	2	0	SCN1A	166556992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.106000	0.94253	2.049000	0.60858	0.528000	0.53228	GTC		0.478	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		T	166848746	A	T	166848746	3	4	233	1	0	0	0	0	1	0	0	0	13920	275	10	5	994	5	SCN1A	2	166848746	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	30455039	166848746	76350627	16	14173											
NFE2L2	4780	hgsc.bcm.edu	37	2	178098806	178098806	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:178098806G>T	ENST00000397062.3	-	2	793	c.239C>A	c.(238-240)aCa>aAa	p.T80K	NFE2L2_ENST00000423513.1_Missense_Mutation_p.T64K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.T64K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.T64K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.T64K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	80					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T80K(3)|p.T80R(2)|p.T80I(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATTCACCTGTCTCTTCATC	0.443			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	6	Substitution - Missense(6)	lung(2)|oesophagus(2)|upper_aerodigestive_tract(1)|endometrium(1)											146	145	145					2																	178098806		1901	4109	6010	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.239C>A	chr2.hg19:g.178098806G>T	ENSP00000380252:p.Thr80Lys		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	hg19	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264788	0.80358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.994;0.999;0.997	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:0.0:1.0:0.0	.	64;64;64;80	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	64;80;64;64;64;64;64	ENSP00000380253:T64K;ENSP00000380252:T80K;ENSP00000411575:T64K;ENSP00000391590:T64K;ENSP00000400073:T64K;ENSP00000412191:T64K;ENSP00000410015:T64K	ENSP00000380252:T80K	T	-	2	0	NFE2L2	177807052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.229000	0.95273	2.737000	0.93849	0.563000	0.77884	ACA		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		T	178098806	G	T	178098806	3	4	233	1	0	0	0	0	1	0	0	0	10370	1377	48	4	1594	4	NFE2L2	2	178098806	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	11250060	178098806	65100567	17	14174											
FAM117B	150864	hgsc.bcm.edu	37	2	203560690	203560690	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:203560690delG	ENST00000392238.2	+	2	688	c.688delG	c.(688-690)gctfs	p.A230fs	FAM117B_ENST00000303116.6_5'UTR			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	230										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ACCGTATCTTGCTGGACACTG	0.483																																																0													86	75	79					2																	203560690		2203	4300	6503	SO:0001589	frameshift_variant	150864			AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.688delG	chr2.hg19:g.203560690delG	ENSP00000376071:p.Ala230fs		Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Frame_Shift_Del	DEL	ENST00000392238.2	hg19	CCDS33362.2																																																																																				0.483	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		-	203560690	G	-	203560690	7	5	233	1	0	1	0	1	0	0	0	0	5412	1319	46	0	694	0	FAM117B	2	203560690	Frame_Shift_Del	DEL	G	TCGA-B1-A47M-01A-11D-A25F-10	25461884	203560690	39638683	18	14175											
CHPF	79586	hgsc.bcm.edu	37	2	220404816	220404816	+	Silent	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:220404816A>T	ENST00000243776.6	-	4	1865	c.1617T>A	c.(1615-1617)gcT>gcA	p.A539A	CHPF_ENST00000535926.1_Silent_p.A377A	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	539	Ala-rich.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGCTGCCGCAGCATCACCAG	0.657																																																0													15	15	15					2																	220404816		2197	4292	6489	SO:0001819	synonymous_variant	79586			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1617T>A	chr2.hg19:g.220404816A>T			B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	ENST00000243776.6	hg19	CCDS2443.1																																																																																				0.657	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		T	220404816	A	T	220404816	2	4	233	1	0	0	0	0	0	0	0	1	3370	175	7	5		5	CHPF	2	220404816	Silent	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	16844126	220404816	22794557	19	14176											
COL6A3	1293	hgsc.bcm.edu	37	2	238259816	238259816	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:238259816C>G	ENST00000295550.4	-	27	7225	c.6773G>C	c.(6772-6774)gGt>gCt	p.G2258A	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1651A|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2052A|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2052A|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2058A|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2057A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2258	Collagen-like 4.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCAGGAGCACCAGCGGCACC	0.572																																																0													102	83	89					2																	238259816		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6773G>C	chr2.hg19:g.238259816C>G	ENSP00000295550:p.Gly2258Ala		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558422	0.27827	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.97850	-4.16;-4.16;-4.57;-4.16;-4.57;-4.16	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000040	D	0.99372	0.9779	H	0.99238	4.48	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	D	0.98306	1.0521	10	0.87932	D	0	.	17.4191	0.87510	0.0:1.0:0.0:0.0	.	1651;1651;2052;2258	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	A	2258;2057;2052;1651;2052;2058	ENSP00000295550:G2258A;ENSP00000315609:G2057A;ENSP00000315873:G2052A;ENSP00000418285:G1651A;ENSP00000386844:G2052A;ENSP00000295546:G2058A	ENSP00000295550:G2258A	G	-	2	0	COL6A3	237924555	0.999000	0.42202	0.110000	0.21437	0.435000	0.31806	5.960000	0.70348	2.543000	0.85770	0.650000	0.86243	GGT		0.572	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		G	238259816	C	G	238259816	3	3	233	1	0	0	0	0	1	0	0	0	3703	507	18	4	2832	4	COL6A3	2	238259816	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	17855000	238259816	4939557	20	14177											
ILKAP	80895	hgsc.bcm.edu	37	2	239093869	239093869	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:239093869A>G	ENST00000254654.3	-	6	660	c.485T>C	c.(484-486)tTt>tCt	p.F162S		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	162	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGTGCAGCAAATTTTGAGGC	0.353																																																0													110	104	106					2																	239093869		2203	4300	6503	SO:0001583	missense	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.485T>C	chr2.hg19:g.239093869A>G	ENSP00000254654:p.Phe162Ser		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	hg19	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082008	0.76528	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.18810	2.19;2.19	5.86	5.86	0.93980	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	M	0.87617	2.895	0.80722	D	1	D	0.61080	0.989	D	0.67103	0.949	T	0.55425	-0.8143	10	0.66056	D	0.02	-4.2693	10.9192	0.47154	0.8595:0.0:0.0:0.1405	.	162	Q9H0C8	ILKAP_HUMAN	S	162;160	ENSP00000254654:F162S;ENSP00000395301:F160S	ENSP00000254654:F162S	F	-	2	0	ILKAP	238758608	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.341000	0.52151	2.241000	0.73720	0.528000	0.53228	TTT		0.353	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		G	239093869	A	G	239093869	3	3	233	1	0	0	0	0	1	0	0	0	7716	14	1	3	721	3	ILKAP	2	239093869	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	834053	239093869	4105504	21	14178											
ABHD5	51099	hgsc.bcm.edu	37	3	43744053	43744053	+	Silent	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr3:43744053T>C	ENST00000458276.2	+	3	603	c.480T>C	c.(478-480)gcT>gcC	p.A160A		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	160					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TCTTGGCTGCTGCTTACTCGC	0.468																																																0													205	195	198					3																	43744053		2203	4300	6503	SO:0001819	synonymous_variant	51099			AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"Abhydrolase domain containing"	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.480T>C	chr3.hg19:g.43744053T>C			B2R9K0|Q9Y369	Silent	SNP	ENST00000458276.2	hg19	CCDS2711.1																																																																																				0.468	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		C	43744053	T	C	43744053	2	2	233	1	0	0	0	0	0	0	0	1	85	1567	55	3		3	ABHD5	3	43744053	Silent	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10		43744053	154278377	22	14179											
RG9MTD1	54931	hgsc.bcm.edu	37	3	101284214	101284214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr3:101284214C>T	ENST00000309922.6	+	2	743	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	197	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GAAGGGTGCCCAGGCCATGCA	0.398																																																0													103	95	97					3																	101284214		1849	4094	5943	SO:0001587	stop_gained	54931			AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 1"	615423	"RNA (guanine-9-) methyltransferase domain containing 1"	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.589C>T	chr3.hg19:g.101284214C>T	ENSP00000312356:p.Gln197*		Q9NRG5|Q9NX54|Q9Y596	Nonsense_Mutation	SNP	ENST00000309922.6	hg19	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956006	0.92726	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	.	.	.	5.96	5.96	0.96718	.	0.120526	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-25.6056	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	197	.	ENSP00000312356:Q197X	Q	+	1	0	RG9MTD1	102766904	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.736000	0.68597	2.832000	0.97577	0.655000	0.94253	CAG		0.398	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		T	101284214	C	T	101284214	4	4	233	1	0	0	0	0	0	1	0	0	13277	595	21	2	591	2	RG9MTD1	3	101284214	Nonsense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	57540161	101284214	96738216	23	14180											
LRCH3	84859	hgsc.bcm.edu	37	3	197592302	197592302	+	Missense_Mutation	SNP	C	C	G	rs201375313		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr3:197592302C>G	ENST00000425562.2	+	16	1725	c.1725C>G	c.(1723-1725)gaC>gaG	p.D575E	LRCH3_ENST00000334859.4_Missense_Mutation_p.D575E|LRCH3_ENST00000414675.2_Missense_Mutation_p.D523E|LRCH3_ENST00000441090.2_Missense_Mutation_p.D421E|LRCH3_ENST00000438796.2_Missense_Mutation_p.D575E|LRCH3_ENST00000536618.1_Missense_Mutation_p.D170E			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	575						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGAGTGATGACAGACCTAATG	0.274																																																0													39	38	39					3																	197592302		2203	4300	6503	SO:0001583	missense	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1725C>G	chr3.hg19:g.197592302C>G	ENSP00000393579:p.Asp575Glu		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	hg19		.	.	.	.	.	.	.	.	.	.	C	4.270	0.049197	0.08243	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660;ENST00000433298	T;T;T;T;T;T;T;T	0.46451	2.09;1.5;2.1;2.36;2.11;0.89;0.87;0.97	4.97	2.98	0.34508	.	0.475028	0.22270	N	0.062279	T	0.26340	0.0643	L	0.29908	0.895	0.20563	N	0.999887	B;B;B;B;P	0.37663	0.102;0.058;0.056;0.033;0.604	B;B;B;B;B	0.33042	0.028;0.012;0.029;0.008;0.157	T	0.07539	-1.0767	10	0.31617	T	0.26	-1.0728	8.8539	0.35217	0.0:0.8043:0.0:0.1957	.	421;523;575;575;575	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	E	575;421;523;575;575;170;86;48	ENSP00000399751:D575E;ENSP00000394609:D421E;ENSP00000394965:D523E;ENSP00000334375:D575E;ENSP00000393579:D575E;ENSP00000439083:D170E;ENSP00000395309:D86E;ENSP00000400164:D48E	ENSP00000334375:D575E	D	+	3	2	LRCH3	199076699	1.000000	0.71417	0.975000	0.42487	0.064000	0.16182	0.457000	0.21875	0.390000	0.25115	-0.480000	0.04831	GAC		0.274	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		G	197592302	C	G	197592302	3	3	233	1	0	0	0	0	1	0	0	0	8936	477	17	4	1787	4	LRCH3	3	197592302	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	96308088	197592302	430128	24	14181											
KCTD8	386617	hgsc.bcm.edu	37	4	44450334	44450334	+	Silent	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr4:44450334A>T	ENST00000360029.3	-	1	490	c.207T>A	c.(205-207)acT>acA	p.T69T	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	69	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGCTGGCCAAAGTACTGTCCG	0.677										HNSCC(17;0.042)																																						0													24	21	22					4																	44450334		2191	4278	6469	SO:0001819	synonymous_variant	386617			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.207T>A	chr4.hg19:g.44450334A>T			A2RU39	Silent	SNP	ENST00000360029.3	hg19	CCDS3467.1																																																																																				0.677	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			T	44450334	A	T	44450334	2	4	233	1	0	0	0	0	0	0	0	1	8117	59	3	5		5	KCTD8	4	44450334	Silent	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10		44450334	146703942	25	14182											
AFF1	4299	hgsc.bcm.edu	37	4	88053423	88053423	+	Splice_Site	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr4:88053423C>T	ENST00000307808.6	+	18	3573	c.3153C>T	c.(3151-3153)tgC>tgT	p.C1051C	AFF1_ENST00000395146.4_Splice_Site_p.C1058C|AFF1_ENST00000544085.1_Splice_Site_p.C689C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1051					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTGTTCATAGCATGCGTTGCC	0.393																																																0													118	107	111					4																	88053423		2203	4300	6503	SO:0001630	splice_region_variant	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3153-1C>T	chr4.hg19:g.88053423C>T			B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	hg19	CCDS3616.1																																																																																				0.393	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935	Silent	T	88053423	C	T	88053423	5	4	233	1	0	0	0	0	0	0	1	0	356	724	25	2	3265	2	AFF1	4	88053423	Splice_Site	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	43603089	88053423	103100853	26	14183											
ADH4	127	hgsc.bcm.edu	37	4	100057629	100057629	+	Silent	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr4:100057629G>T	ENST00000265512.7	-	5	644	c.570C>A	c.(568-570)atC>atA	p.I190I	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Silent_p.I209I|ADH4_ENST00000423445.1_Silent_p.I209I|ADH4_ENST00000505590.1_Silent_p.I209I	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	190					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TGGCATTGTTGATTGCAGCCC	0.388																																																0													162	144	150					4																	100057629		2203	4300	6503	SO:0001819	synonymous_variant	127			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.570C>A	chr4.hg19:g.100057629G>T			A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	ENST00000265512.7	hg19	CCDS34032.1																																																																																				0.388	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		T	100057629	G	T	100057629	2	4	233	1	0	0	0	0	0	0	0	1	310	1280	45	4		4	ADH4	4	100057629	Silent	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	12004206	100057629	91096647	27	14184											
KIAA1109	84162	hgsc.bcm.edu	37	4	123109188	123109188	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr4:123109188A>T	ENST00000264501.4	+	9	1139	c.766A>T	c.(766-768)Aat>Tat	p.N256Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.N256Y|KIAA1109_ENST00000455637.1_Missense_Mutation_p.N256Y			Q2LD37	K1109_HUMAN	KIAA1109	256					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAGCTTGAAAATGTTCGAGT	0.313																																																0													103	94	97					4																	123109188		1842	4093	5935	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.766A>T	chr4.hg19:g.123109188A>T	ENSP00000264501:p.Asn256Tyr		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.519360|4.519360	0.85495|0.85495	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|D;D;D	.|0.95272	.|-3.66;-3.66;-3.66	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|7739.210000	.|0.00604	.|U	.|0.000398	D|D	0.97204|0.97204	0.9086|0.9086	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.80764	.|0.994	D|D	0.87444|0.87444	0.2397|0.2397	5|10	.|0.87932	.|D	.|0	.|.	15.4917|15.4917	0.75611|0.75611	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|256	.|Q2LD37	.|K1109_HUMAN	I|Y	88|256	.|ENSP00000264501:N256Y;ENSP00000373390:N256Y;ENSP00000389925:N256Y	.|ENSP00000264501:N256Y	K|N	+|+	2|1	0|0	KIAA1109|KIAA1109	123328638|123328638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.232000|9.232000	0.95325|0.95325	2.065000|2.065000	0.61736|0.61736	0.459000|0.459000	0.35465|0.35465	AAA|AAT		0.313	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123109188	A	T	123109188	3	4	233	1	0	0	0	0	1	0	0	0	8210	14	1	5	792	5	KIAA1109	4	123109188	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	23051559	123109188	68045088	28	14185											
SMARCA5	8467	hgsc.bcm.edu	37	4	144457751	144457751	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr4:144457751A>C	ENST00000283131.3	+	11	1877	c.1415A>C	c.(1414-1416)tAt>tCt	p.Y472S		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	472					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GGTCCACCTTATACAACAGAT	0.398																																																0													102	95	97					4																	144457751		2203	4300	6503	SO:0001583	missense	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1415A>C	chr4.hg19:g.144457751A>C	ENSP00000283131:p.Tyr472Ser			Missense_Mutation	SNP	ENST00000283131.3	hg19	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668376	0.88348	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	T	0.75050	-0.9	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	M	0.88906	2.99	0.80722	D	1	P	0.44380	0.834	P	0.53912	0.737	D	0.87814	0.2633	10	0.56958	D	0.05	-21.194	15.7551	0.78018	1.0:0.0:0.0:0.0	.	472	O60264	SMCA5_HUMAN	S	472;415;415	ENSP00000283131:Y472S	ENSP00000283131:Y472S	Y	+	2	0	SMARCA5	144677201	1.000000	0.71417	0.977000	0.42913	0.985000	0.73830	9.231000	0.95317	2.192000	0.70111	0.533000	0.62120	TAT		0.398	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			C	144457751	A	C	144457751	3	2	233	1	0	0	0	0	1	0	0	0	14777	449	16	5	1457	5	SMARCA5	4	144457751	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	21348563	144457751	46696525	29	14186											
CDH6	1004	hgsc.bcm.edu	37	5	31294229	31294229	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:31294229C>A	ENST00000265071.2	+	3	654	c.389C>A	c.(388-390)gCt>gAt	p.A130D	CDH6_ENST00000514738.1_Missense_Mutation_p.A75D	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGAGCTCAAGCTATAAACAGA	0.458																																																0													128	127	127					5																	31294229		2203	4300	6503	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.389C>A	chr5.hg19:g.31294229C>A	ENSP00000265071:p.Ala130Asp		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	hg19	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436456	0.83885	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.71934	-0.61;-0.61	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.096902	0.64402	D	0.000001	D	0.90964	0.7159	H	0.98089	4.145	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93441	0.6794	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	130;130	P55285;P55285-2	CADH6_HUMAN;.	D	75;130	ENSP00000424843:A75D;ENSP00000265071:A130D	ENSP00000265071:A130D	A	+	2	0	CDH6	31329986	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	3.261000	0.51530	2.885000	0.99019	0.655000	0.94253	GCT		0.458	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		A	31294229	C	A	31294229	3	1	233	1	0	0	0	0	1	0	0	0	3116	797	28	4	395	4	CDH6	5	31294229	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10		31294229	149621031	30	14187											
SKP2	6502	hgsc.bcm.edu	37	5	36183992	36183992	+	3'UTR	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:36183992G>A	ENST00000274255.6	+	0	3330				SKP2_ENST00000274254.5_Missense_Mutation_p.C371Y	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACATCGGATGCCCTCAAACA	0.358																																																0													100	95	96					5																	36183992		2203	4300	6503	SO:0001624	3_prime_UTR_variant	6502			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.*1859G>A	chr5.hg19:g.36183992G>A			A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	hg19	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342740	0.24339	.	.	ENSG00000145604	ENST00000274254	T	0.09630	2.96	5.53	3.5	0.40072	.	0.203110	0.53938	D	0.000058	T	0.07908	0.0198	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.06405	0.002	T	0.22382	-1.0218	9	0.72032	D	0.01	-5.9	5.4712	0.16670	0.2751:0.0:0.7248:0.0	.	371	Q13309-2	.	Y	371	ENSP00000274254:C371Y	ENSP00000274254:C371Y	C	+	2	0	SKP2	36219749	0.013000	0.17824	0.442000	0.26870	0.014000	0.08584	0.596000	0.24044	1.358000	0.45922	0.650000	0.86243	TGC		0.358	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		A	36183992	G	A	36183992	1	1	233	0	1	0	0	0	0	0	0	0	14368	1319	46	2		2	SKP2	5	36183992	3'UTR	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	4889763	36183992	144731268	31	14188											
DTWD2	285605	hgsc.bcm.edu	37	5	118183873	118183873	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:118183873C>T	ENST00000510708.1	-	5	671	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	DTWD2_ENST00000304058.4_Missense_Mutation_p.R147Q|DTWD2_ENST00000515439.3_Missense_Mutation_p.R117Q	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	213										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CGGCTGCATCCGAATTACATA	0.318																																																0													67	64	65					5																	118183873		2202	4300	6502	SO:0001583	missense	285605				CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.638G>A	chr5.hg19:g.118183873C>T	ENSP00000425048:p.Arg213Gln			Missense_Mutation	SNP	ENST00000510708.1	hg19	CCDS34216.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223594	0.95139	.	.	ENSG00000169570	ENST00000304058;ENST00000510708;ENST00000515439	.	.	.	5.36	5.36	0.76844	DTW (1);	0.000000	0.85682	D	0.000000	D	0.86134	0.5860	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89151	0.3523	9	0.87932	D	0	-25.3975	18.6918	0.91586	0.0:1.0:0.0:0.0	.	213	Q8NBA8	DTWD2_HUMAN	Q	147;213;117	.	ENSP00000302892:R147Q	R	-	2	0	DTWD2	118211772	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.267000	0.78462	2.511000	0.84671	0.455000	0.32223	CGG		0.318	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		T	118183873	C	T	118183873	3	4	233	1	0	0	0	0	1	0	0	0	4794	652	23	1	266	1	DTWD2	5	118183873	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	81999881	118183873	62731387	32	14189											
FAM13B	51306	hgsc.bcm.edu	37	5	137346798	137346798	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:137346798C>G	ENST00000033079.3	-	6	1040	c.589G>C	c.(589-591)Gtg>Ctg	p.V197L	FAM13B_ENST00000420893.2_Missense_Mutation_p.V197L|FAM13B_ENST00000425075.2_Missense_Mutation_p.V79L	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	197	Glu-rich.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						ATCCTGCTCACTATTTCTTGC	0.338																																																0													155	147	150					5																	137346798		2203	4300	6503	SO:0001583	missense	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.589G>C	chr5.hg19:g.137346798C>G	ENSP00000033079:p.Val197Leu		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	hg19	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818248	0.90790	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.41400	1.0;2.01;1.0	5.59	5.59	0.84812	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	L	0.40543	1.245	0.80722	D	1	D;D;P	0.67145	0.996;0.996;0.461	D;D;B	0.77557	0.987;0.99;0.299	T	0.57476	-0.7805	10	0.54805	T	0.06	-6.8245	19.5907	0.95509	0.0:1.0:0.0:0.0	.	79;197;197	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	L	197;79;197	ENSP00000033079:V197L;ENSP00000394669:V79L;ENSP00000388521:V197L	ENSP00000033079:V197L	V	-	1	0	FAM13B	137374697	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.005000	0.63972	2.640000	0.89533	0.655000	0.94253	GTG		0.338	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			G	137346798	C	G	137346798	3	3	233	1	0	0	0	0	1	0	0	0	5455	565	20	4	2300	4	FAM13B	5	137346798	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	19162925	137346798	43568462	33	14190											
PCDHB10	56126	hgsc.bcm.edu	37	5	140572491	140572494	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	AGTC	AGTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:140572491_140572494delAGTC	ENST00000239446.4	+	1	550_553	c.366_369delAGTC	c.(364-369)agagtcfs	p.RV122fs		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGCTGAGAGTCAGGGATATAA	0.422																																																0																																										SO:0001589	frameshift_variant	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.366_369delAGTC	chr5.hg19:g.140572491_140572494delAGTC	ENSP00000239446:p.Arg122fs		Q96T99	Frame_Shift_Del	DEL	ENST00000239446.4	hg19	CCDS4252.1																																																																																				0.422	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		-	140572494	AGTC	-	140572491	7	5	233	1	0	1	0	1	0	0	0	0	11537	301	11	0	368	0	PCDHB10	5	140572491	Frame_Shift_Del	DEL	AGTC	TCGA-B1-A47M-01A-11D-A25F-10	3225693	140572491	40342769	34	14191											
FAM71B	153745	hgsc.bcm.edu	37	5	156590131	156590131	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:156590131G>A	ENST00000302938.4	-	2	1240	c.1145C>T	c.(1144-1146)aCc>aTc	p.T382I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	382						nucleus (GO:0005634)		p.T382N(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACACTTGCTGGTCGTAATACT	0.572																																																1	Substitution - Missense(1)	lung(1)											47	49	48					5																	156590131		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1145C>T	chr5.hg19:g.156590131G>A	ENSP00000305596:p.Thr382Ile		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	hg19	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673011	0.47781	.	.	ENSG00000170613	ENST00000302938	T	0.18960	2.18	3.83	2.95	0.34219	.	0.314558	0.23165	N	0.051186	T	0.37598	0.1009	M	0.78801	2.425	0.09310	N	1	D	0.62365	0.991	P	0.57101	0.813	T	0.13548	-1.0505	10	0.72032	D	0.01	-18.4181	9.0093	0.36131	0.0:0.0:0.781:0.219	.	382	Q8TC56	FA71B_HUMAN	I	382	ENSP00000305596:T382I	ENSP00000305596:T382I	T	-	2	0	FAM71B	156522709	0.045000	0.20229	0.011000	0.14972	0.002000	0.02628	2.344000	0.44010	1.174000	0.42811	0.561000	0.74099	ACC		0.572	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		A	156590131	G	A	156590131	3	1	233	1	0	0	0	0	1	0	0	0	5610	1261	44	2	676	2	FAM71B	5	156590131	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	16017640	156590131	24325129	35	14192											
CLK4	57396	hgsc.bcm.edu	37	5	178030682	178030683	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:178030682_178030683insT	ENST00000316308.4	-	13	1549_1550	c.1381_1382insA	c.(1381-1383)actfs	p.T461fs		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	461	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		AATTCTTTGAGTTGGATCATAT	0.342																																																0																																										SO:0001589	frameshift_variant	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1382dupA	chr5.hg19:g.178030684_178030684dupT	ENSP00000316948:p.Thr461fs			Frame_Shift_Ins	INS	ENST00000316308.4	hg19	CCDS4437.1																																																																																				0.342	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			T	178030683	-	T	178030682	7	5	233	1	0	1	1	0	0	0	0	0	3541	1029	36	0	67	0	CLK4	5	178030682	Frame_Shift_Ins	INS	-	TCGA-B1-A47M-01A-11D-A25F-10	21440551	178030682	2884578	36	14193											
EHMT2	10919	hgsc.bcm.edu	37	6	31852462	31852462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:31852462delG	ENST00000375537.4	-	20	2569	c.2563delC	c.(2563-2565)ctgfs	p.L855fs	EHMT2_ENST00000395728.3_Frame_Shift_Del_p.L912fs|EHMT2_ENST00000375528.4_Frame_Shift_Del_p.L878fs|EHMT2_ENST00000375530.4_Frame_Shift_Del_p.L821fs|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	855					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCGATGTGCAGGGGGGTGTCC	0.657																																																0													39	34	36					6																	31852462		1511	2708	4219	SO:0001589	frameshift_variant	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2563delC	chr6.hg19:g.31852462delG	ENSP00000364687:p.Leu855fs		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Frame_Shift_Del	DEL	ENST00000375537.4	hg19	CCDS4725.1																																																																																				0.657	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		-	31852462	G	-	31852462	7	5	233	1	0	1	0	1	0	0	0	0	4986	991	35	0	1105	0	EHMT2	6	31852462	Frame_Shift_Del	DEL	G	TCGA-B1-A47M-01A-11D-A25F-10		31852462	139262605	37	14194	108	2									
EHMT2	10919	hgsc.bcm.edu	37	6	31852467	31852467	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:31852467G>A	ENST00000375537.4	-	20	2564	c.2558C>T	c.(2557-2559)aCc>aTc	p.T853I	EHMT2_ENST00000395728.3_Missense_Mutation_p.T910I|EHMT2_ENST00000375528.4_Missense_Mutation_p.T876I|EHMT2_ENST00000375530.4_Missense_Mutation_p.T819I|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	853					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GTGCAGGGGGGTGTCCCCATG	0.647																																																0													39	33	36					6																	31852467		1511	2709	4220	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2558C>T	chr6.hg19:g.31852467G>A	ENSP00000364687:p.Thr853Ile		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	hg19	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175053	0.78564	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.14	5.14	0.70334	Ankyrin repeat-containing domain (3);	0.055749	0.64402	D	0.000001	D	0.94245	0.8152	H	0.97829	4.085	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.81914	0.99;0.983;0.995;0.995	D	0.96314	0.9231	10	0.87932	D	0	.	17.3716	0.87380	0.0:0.0:1.0:0.0	.	876;819;853;674	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	I	910;876;819;853;674	ENSP00000379078:T910I;ENSP00000364678:T876I;ENSP00000364680:T819I;ENSP00000364687:T853I	ENSP00000364678:T876I	T	-	2	0	EHMT2	31960446	1.000000	0.71417	0.978000	0.43139	0.313000	0.28021	9.634000	0.98435	2.396000	0.81511	0.555000	0.69702	ACC		0.647	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		A	31852467	G	A	31852467	3	1	233	1	0	0	0	0	1	0	0	0	4986	1261	44	2	1110	2	EHMT2	6	31852467	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	5	31852467	139262600	38	14195	108	2									
CUL9	23113	hgsc.bcm.edu	37	6	43184050	43184050	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:43184050T>C	ENST00000252050.4	+	31	6175	c.6091T>C	c.(6091-6093)Tcc>Ccc	p.S2031P	CUL9_ENST00000354495.3_Missense_Mutation_p.S1921P|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.S2003P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2031					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTTGGCTCATTCCCACTGGGG	0.602																																																0													51	43	46					6																	43184050		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6091T>C	chr6.hg19:g.43184050T>C	ENSP00000252050:p.Ser2031Pro		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	hg19	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563689	0.65651	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.04156	3.69;3.69;3.69	5.82	3.11	0.35812	.	0.282909	0.37809	N	0.001923	T	0.01835	0.0058	L	0.36672	1.1	0.28092	N	0.93174	P;P;P	0.38642	0.467;0.641;0.641	B;B;B	0.38562	0.26;0.276;0.276	T	0.41161	-0.9524	10	0.54805	T	0.06	-12.2048	9.9765	0.41786	0.1212:0.0:0.1122:0.7665	.	1921;2003;2031	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	P	2031;1921;2003	ENSP00000252050:S2031P;ENSP00000346490:S1921P;ENSP00000361730:S2003P	ENSP00000252050:S2031P	S	+	1	0	CUL9	43292028	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.643000	0.46604	1.001000	0.39076	0.533000	0.62120	TCC		0.602	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		C	43184050	T	C	43184050	3	2	233	1	0	0	0	0	1	0	0	0	4063	1783	62	3	6209	3	CUL9	6	43184050	Missense_Mutation	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10	11331583	43184050	127931017	39	14196											
COL10A1	1300	hgsc.bcm.edu	37	6	116441541	116441541	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:116441541G>T	ENST00000327673.4	-	2	2145	c.1738C>A	c.(1738-1740)Cag>Aag	p.Q580K	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_5'Flank|COL10A1_ENST00000243222.4_Missense_Mutation_p.Q580K			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	580	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCATAATGCTGTTGCCTGTTA	0.398																																																0													96	98	97					6																	116441541		2203	4300	6503	SO:0001583	missense	1300				CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.1738C>A	chr6.hg19:g.116441541G>T	ENSP00000327368:p.Gln580Lys		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	hg19	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829889	0.32329	.	.	ENSG00000123500	ENST00000243222;ENST00000327673	D;D	0.85556	-2.0;-2.0	4.74	2.88	0.33553	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.188788	0.47455	D	0.000223	T	0.56366	0.1980	L	0.41415	1.275	0.40364	D	0.97927	B	0.06786	0.001	B	0.08055	0.003	T	0.53767	-0.8392	10	0.02654	T	1	.	9.3923	0.38381	0.0:0.1413:0.5663:0.2925	.	580	Q03692	COAA1_HUMAN	K	580	ENSP00000243222:Q580K;ENSP00000327368:Q580K	ENSP00000243222:Q580K	Q	-	1	0	COL10A1	116548234	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	2.258000	0.43249	0.487000	0.27698	0.455000	0.32223	CAG		0.398	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			T	116441541	G	T	116441541	3	4	233	1	0	0	0	0	1	0	0	0	3668	1386	48	4	308	4	COL10A1	6	116441541	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	73257491	116441541	54673526	40	14197											
SBDS	51119	hgsc.bcm.edu	37	7	66456178	66456178	+	Silent	SNP	G	G	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr7:66456178G>C	ENST00000246868.2	-	4	753	c.570C>G	c.(568-570)ctC>ctG	p.L190L		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	190					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TCAGTGGCTTGAGCTTTTCTT	0.368			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome																													yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0													142	119	127					7																	66456178		2203	4300	6503	SO:0001819	synonymous_variant	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.570C>G	chr7.hg19:g.66456178G>C			A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	hg19	CCDS5537.1																																																																																				0.368	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		C	66456178	G	C	66456178	2	2	233	1	0	0	0	0	0	0	0	1	13863	1277	45	4		4	SBDS	7	66456178	Silent	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10		66456178	92682485	41	14198											
ZNF498	221785	hgsc.bcm.edu	37	7	99219063	99219063	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr7:99219063T>A	ENST00000394152.2	+	5	782	c.455T>A	c.(454-456)aTc>aAc	p.I152N	ZSCAN25_ENST00000262941.6_Missense_Mutation_p.I152N|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.I152N|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	152					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAGCCAGGCATCCAGCTGGGG	0.592																																																0													73	71	72					7																	99219063		2203	4300	6503	SO:0001583	missense	221785			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.455T>A	chr7.hg19:g.99219063T>A	ENSP00000377708:p.Ile152Asn		A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	hg19	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370520	0.42003	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.08896	3.1;3.1;3.04	5.08	5.08	0.68730	.	0.491076	0.17227	N	0.182081	T	0.06962	0.0177	N	0.24115	0.695	0.32243	N	0.572403	P;P	0.37276	0.589;0.454	B;B	0.37888	0.26;0.133	T	0.18053	-1.0349	10	0.26408	T	0.33	-10.0218	11.8202	0.52235	0.0:0.0:0.0:1.0	.	152;152	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	N	152	ENSP00000377708:I152N;ENSP00000334800:I152N;ENSP00000262941:I152N	ENSP00000262941:I152N	I	+	2	0	ZNF498	99056999	0.009000	0.17119	0.884000	0.34674	0.768000	0.43524	1.283000	0.33237	2.210000	0.71456	0.533000	0.62120	ATC		0.592	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		A	99219063	T	A	99219063	3	1	233	1	0	0	0	0	1	0	0	0	17952	1435	50	5	461	5	ZNF498	7	99219063	Missense_Mutation	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10	32762885	99219063	59919600	42	14199											
AASS	10157	hgsc.bcm.edu	37	7	121769482	121769482	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr7:121769482G>A	ENST00000393376.1	-	2	415	c.320C>T	c.(319-321)gCa>gTa	p.A107V	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.A107V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	107	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GGAGAAAAATGCATAAGTCTT	0.348																																																0													59	61	60					7																	121769482		2202	4300	6502	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.320C>T	chr7.hg19:g.121769482G>A	ENSP00000377040:p.Ala107Val		O95462	Missense_Mutation	SNP	ENST00000393376.1	hg19	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	13.69	2.312716	0.40895	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.74737	-0.87;-0.87	5.39	5.39	0.77823	Alanine dehydrogenase/PNT, N-terminal (1);	0.096191	0.64402	D	0.000001	T	0.63674	0.2531	N	0.20483	0.58	0.80722	D	1	B	0.32526	0.374	B	0.38225	0.268	T	0.59434	-0.7455	10	0.06365	T	0.9	-20.188	19.4914	0.95050	0.0:0.0:1.0:0.0	.	107	Q9UDR5	AASS_HUMAN	V	107	ENSP00000377040:A107V;ENSP00000403768:A107V	ENSP00000351834:A107V	A	-	2	0	AASS	121556718	1.000000	0.71417	0.929000	0.37066	0.990000	0.78478	9.799000	0.99117	2.681000	0.91329	0.655000	0.94253	GCA		0.348	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		A	121769482	G	A	121769482	3	1	233	1	0	0	0	0	1	0	0	0	24	1319	46	2	2548	2	AASS	7	121769482	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	22550419	121769482	37369181	43	14200											
VIPR2	7434	hgsc.bcm.edu	37	7	158828654	158828654	+	Silent	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr7:158828654T>C	ENST00000262178.2	-	8	983	c.798A>G	c.(796-798)ttA>ttG	p.L266L	VIPR2_ENST00000377633.3_Silent_p.L250L|VIPR2_ENST00000402066.1_Silent_p.L407L	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	266					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CGGTGTCTTCTAAGTAGAGCC	0.597																																					Pancreas(154;1876 1931 2329 17914 20079)											0													81	60	67					7																	158828654		2203	4300	6503	SO:0001819	synonymous_variant	7434			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.798A>G	chr7.hg19:g.158828654T>C			Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	hg19	CCDS5950.1																																																																																				0.597	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		C	158828654	T	C	158828654	2	2	233	1	0	0	0	0	0	0	0	1	17175	1519	53	3		3	VIPR2	7	158828654	Silent	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10	37059172	158828654	310009	44	14201											
MSR1	4481	hgsc.bcm.edu	37	8	16021617	16021617	+	Silent	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr8:16021617A>G	ENST00000262101.5	-	5	895	c.774T>C	c.(772-774)gaT>gaC	p.D258D	MSR1_ENST00000355282.2_Silent_p.D258D|MSR1_ENST00000445506.2_Silent_p.D276D|MSR1_ENST00000350896.3_Silent_p.D258D|MSR1_ENST00000536385.1_Silent_p.D32D|MSR1_ENST00000381998.4_Silent_p.D258D			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	258					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AATGTTCCCAATCTTTCAGTC	0.303																																																0													168	150	156					8																	16021617		2203	4299	6502	SO:0001819	synonymous_variant	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.774T>C	chr8.hg19:g.16021617A>G			D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	hg19	CCDS5995.1																																																																																				0.303	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			G	16021617	A	G	16021617	2	3	233	1	0	0	0	0	0	0	0	1	9888	98	4	3		3	MSR1	8	16021617	Silent	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10		16021617	130342405	45	14202											
EYA1	2138	hgsc.bcm.edu	37	8	72182014	72182014	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr8:72182014G>A	ENST00000340726.3	-	11	1650	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	EYA1_ENST00000419131.1_Silent_p.H332H|EYA1_ENST00000388743.2_Silent_p.H336H|EYA1_ENST00000303824.7_Silent_p.H331H|EYA1_ENST00000388741.2_Silent_p.H303H|EYA1_ENST00000388742.4_Silent_p.H337H|EYA1_ENST00000388740.3_Silent_p.H304H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	337					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TAAGCAAGGAGTGGAAAACAA	0.403																																																0													172	156	161					8																	72182014		2203	4300	6503	SO:0001819	synonymous_variant	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1011C>T	chr8.hg19:g.72182014G>A			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	hg19	CCDS34906.1																																																																																				0.403	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		A	72182014	G	A	72182014	2	1	233	1	0	0	0	0	0	0	0	1	5330	1020	36	2		2	EYA1	8	72182014	Silent	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	56160397	72182014	74182008	46	14203											
FER1L6	654463	hgsc.bcm.edu	37	8	124989660	124989660	+	Nonsense_Mutation	SNP	C	C	T	rs535471573		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr8:124989660C>T	ENST00000522917.1	+	10	1080	c.874C>T	c.(874-876)Cga>Tga	p.R292*	FER1L6_ENST00000399018.1_Nonsense_Mutation_p.R292*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	292	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTTAGGGGCGAACCACAGT	0.478													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21723	0.0		0.0	False		,,,				2504	0.0															0													128	126	127					8																	124989660		2043	4204	6247	SO:0001587	stop_gained	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.874C>T	chr8.hg19:g.124989660C>T	ENSP00000428280:p.Arg292*			Nonsense_Mutation	SNP	ENST00000522917.1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	38	7.224901	0.98146	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.53	1.04	0.20106	.	0.091536	0.44688	U	0.000426	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	16.3285	0.82997	0.4563:0.5437:0.0:0.0	.	.	.	.	X	292	.	ENSP00000381982:R292X	R	+	1	2	FER1L6	125058841	0.002000	0.14202	0.996000	0.52242	0.952000	0.60782	0.481000	0.22260	0.264000	0.21851	-0.268000	0.10319	CGA		0.478	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	124989660	C	T	124989660	4	4	233	1	0	0	0	0	0	1	0	0	5817	760	27	1	908	1	FER1L6	8	124989660	Nonsense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	52807646	124989660	21374362	47	14204											
PRUNE2	158471	hgsc.bcm.edu	37	9	79325026	79325026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:79325026G>A	ENST00000376718.3	-	8	2287	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.Q363*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	722					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGTTCAGGCTGACCAAATTCA	0.458																																																0													54	49	51					9																	79325026		1568	3582	5150	SO:0001587	stop_gained	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2164C>T	chr9.hg19:g.79325026G>A	ENSP00000365908:p.Gln722*		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	ENST00000376718.3	hg19	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.95|13.95	2.388631|2.388631	0.42308|0.42308	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	.|.	.|.	.|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.50627|.	D|.	0.000114|.	.|T	.|0.72128	.|0.3422	.|.	.|.	.|.	0.46149|0.46149	D|D	0.998894|0.998894	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69217	.|-0.5203	.|4	0.38643|.	T|.	0.18|.	-6.3717|-6.3717	15.6992|15.6992	0.77528|0.77528	0.0:0.1355:0.8645:0.0|0.0:0.1355:0.8645:0.0	.|.	.|.	.|.	.|.	X|L	722;363;721|43	.|.	ENSP00000365908:Q722X|.	Q|S	-|-	1|2	0|0	PRUNE2|PRUNE2	78514846|78514846	0.736000|0.736000	0.28164|0.28164	0.024000|0.024000	0.17045|0.17045	0.138000|0.138000	0.21146|0.21146	2.887000|2.887000	0.48586|0.48586	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.458	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		A	79325026	G	A	79325026	4	1	233	1	0	0	0	0	0	1	0	0	12646	1299	45	2	7150	2	PRUNE2	9	79325026	Nonsense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10		79325026	61888405	48	14205											
WNK2	65268	hgsc.bcm.edu	37	9	96079890	96079890	+	Missense_Mutation	SNP	C	C	T	rs377748076		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:96079890C>T	ENST00000297954.4	+	29	6716	c.6716C>T	c.(6715-6717)cCg>cTg	p.P2239L	WNK2_ENST00000427277.2_Missense_Mutation_p.P1814L|WNK2_ENST00000349097.3_Missense_Mutation_p.P1851L|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.P2202L|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000471076.1_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2239					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGAGCCGCCCCGACCCTGTCC	0.667																																																0								A	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	52	44	47		6605	2.6	0	9		47	0,8596		0,0,4298	no	missense	WNK2	NM_006648.3	98	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	2202/2218	96079890	1,13001	2203	4298	6501	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6716C>T	chr9.hg19:g.96079890C>T	ENSP00000297954:p.Pro2239Leu		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.441|6.441	0.449533|0.449533	0.12223|0.12223	2.27E-4|2.27E-4	0.0|0.0	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251	T;T;T;T|.	0.74842|.	-0.77;-0.88;-0.2;-0.01|.	5.73|5.73	2.64|2.64	0.31445|0.31445	.|.	0.398049|.	0.21391|.	N|.	0.075314|.	T|.	0.37073|.	0.0990|.	L|L	0.48642|0.48642	1.525|1.525	0.21967|0.21967	N|N	0.999449|0.999449	P;B;B;B|.	0.38195|.	0.622;0.066;0.108;0.255|.	B;B;B;B|.	0.32393|.	0.145;0.008;0.012;0.024|.	T|.	0.24977|.	-1.0145|.	10|.	0.87932|.	D|.	0|.	.|.	5.2308|5.2308	0.15420|0.15420	0.1562:0.6551:0.0:0.1887|0.1562:0.6551:0.0:0.1887	.|.	2202;1693;2202;2239|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	L|X	2239;2202;1851;1814|2198;999	ENSP00000297954:P2239L;ENSP00000378860:P2202L;ENSP00000297876:P1851L;ENSP00000411181:P1814L|.	ENSP00000297954:P2239L|.	P|R	+|+	2|1	0|2	WNK2|WNK2	95119711|95119711	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	0.676000|0.676000	0.25247|0.25247	0.229000|0.229000	0.21039|0.21039	-0.127000|-0.127000	0.14921|0.14921	CCG|CGA		0.667	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		T	96079890	C	T	96079890	3	4	233	1	0	0	0	0	1	0	0	0	17383	652	23	1	6715	1	WNK2	9	96079890	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	16754864	96079890	45133541	49	14206											
TDRD7	23424	hgsc.bcm.edu	37	9	100227199	100227199	+	Silent	SNP	T	T	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:100227199T>G	ENST00000355295.4	+	8	1813	c.1518T>G	c.(1516-1518)ccT>ccG	p.P506P	TDRD7_ENST00000422139.2_Silent_p.P432P	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	506					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTAAGAATCCTAAGATCACAC	0.458																																																0													115	106	109					9																	100227199		2203	4300	6503	SO:0001819	synonymous_variant	23424			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1518T>G	chr9.hg19:g.100227199T>G			A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	hg19	CCDS6725.1																																																																																				0.458	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		G	100227199	T	G	100227199	2	3	233	1	0	0	0	0	0	0	0	1	15740	1509	53	5		5	TDRD7	9	100227199	Silent	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10	4147309	100227199	40986232	50	14207											
CTNNAL1	8727	hgsc.bcm.edu	37	9	111761412	111761413	+	Missense_Mutation	DNP	AT	AT	CC			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A|T	A|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:111761412_111761413AT>CC	ENST00000325551.4	-	2	351_352	c.265_266AT>GG	c.(265-267)ATa>GGa	p.I89G	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I89G|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.I89G|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.I89G	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	89					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTCATTGGCTATAGCTTCTCCT	0.356																																																0																																										SO:0001583	missense	8727			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.265_266delinsCC	chr9.hg19:g.111761412_111761413delinsCC	ENSP00000320434:p.Ile89Gly		B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	hg19	CCDS6775.1																																																																																				0.356	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		CC	111761413	AT	CC	111761412	3	2	233	1	0	0	0	0	1	0	0	0	4017	449	16	5	2010	5	CTNNAL1	9	111761412	Missense_Mutation	DNP	AT	TCGA-B1-A47M-01A-11D-A25F-10	11534213	111761412	29452019	51	14208											
ZBTB6	10773	hgsc.bcm.edu	37	9	125673886	125673886	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:125673886T>C	ENST00000373659.3	-	2	554	c.466A>G	c.(466-468)Aat>Gat	p.N156D		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TTATCAGAATTTTCATCTTCA	0.338																																																0													57	57	57					9																	125673886		2203	4300	6503	SO:0001583	missense	10773			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16764	protein-coding gene	gene with protein product		605976	"zinc finger protein 482"	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.466A>G	chr9.hg19:g.125673886T>C	ENSP00000362763:p.Asn156Asp		A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	hg19	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	T	1.533	-0.543782	0.04053	.	.	ENSG00000186130	ENST00000373659	T	0.09073	3.02	5.96	3.54	0.40534	.	1.010830	0.07908	N	0.973873	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.47129	-0.9141	10	0.10902	T	0.67	.	6.968	0.24632	0.0:0.0766:0.2858:0.6376	.	156	Q15916	ZBTB6_HUMAN	D	156	ENSP00000362763:N156D	ENSP00000362763:N156D	N	-	1	0	ZBTB6	124713707	0.001000	0.12720	0.992000	0.48379	0.995000	0.86356	0.967000	0.29344	0.460000	0.27045	0.533000	0.62120	AAT		0.338	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		C	125673886	T	C	125673886	3	2	233	1	0	0	0	0	1	0	0	0	17557	1841	64	3	812	3	ZBTB6	9	125673886	Missense_Mutation	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10	13912474	125673886	15539545	52	14209											
ODF2	4957	hgsc.bcm.edu	37	9	131250301	131250301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:131250301delG	ENST00000434106.3	+	14	1896	c.1533delG	c.(1531-1533)ctgfs	p.L511fs	ODF2_ENST00000372807.5_Frame_Shift_Del_p.L506fs|ODF2_ENST00000604420.1_Frame_Shift_Del_p.L511fs|ODF2_ENST00000546203.1_Frame_Shift_Del_p.L492fs|ODF2_ENST00000372791.3_Frame_Shift_Del_p.L492fs|ODF2_ENST00000351030.3_Frame_Shift_Del_p.L506fs|ODF2_ENST00000393533.2_Frame_Shift_Del_p.L511fs|ODF2_ENST00000372814.3_Frame_Shift_Del_p.L555fs|ODF2_ENST00000448249.3_Frame_Shift_Del_p.L430fs|ODF2_ENST00000393527.3_Frame_Shift_Del_p.L487fs|ODF2_ENST00000444119.2_Frame_Shift_Del_p.L487fs	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	511					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATGAGAGGCTGAAGGTTCGCA	0.587																																																0													72	63	66					9																	131250301		2203	4300	6503	SO:0001589	frameshift_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1533delG	chr9.hg19:g.131250301delG	ENSP00000403453:p.Leu511fs		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Frame_Shift_Del	DEL	ENST00000434106.3	hg19	CCDS56588.1																																																																																				0.587	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			-	131250301	G	-	131250301	7	5	233	1	0	1	0	1	0	0	0	0	10829	1277	45	0	1638	0	ODF2	9	131250301	Frame_Shift_Del	DEL	G	TCGA-B1-A47M-01A-11D-A25F-10	5576415	131250301	9963130	53	14210											
PARG	8505	hgsc.bcm.edu	37	10	51028288	51028288	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr10:51028288delA	ENST00000402038.3	-	13	1243	c.1244delT	c.(1243-1245)ttcfs	p.F415fs		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	900	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		CCCAAAGGTGAAATAAACCAC	0.423																																																0													139	114	122					10																	51028288		692	1591	2283	SO:0001589	frameshift_variant	8505			AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.1244delT	chr10.hg19:g.51028288delA	ENSP00000384408:p.Phe415fs		A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Frame_Shift_Del	DEL	ENST00000402038.3	hg19																																																																																					0.423	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		-	51028288	A	-	51028288	7	5	233	1	0	1	0	1	0	0	0	0	11450	246	9	0	239	0	PARG	10	51028288	Frame_Shift_Del	DEL	A	TCGA-B1-A47M-01A-11D-A25F-10		51028288	84506459	54	14211	109	2									
PARG	8505	hgsc.bcm.edu	37	10	51028292	51028292	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr10:51028292A>T	ENST00000402038.3	-	13	1239	c.1240T>A	c.(1240-1242)Tat>Aat	p.Y414N		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	899	A-domain.			F -> L (in Ref. 3; AAB61614). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		AAGGTGAAATAAACCACATCT	0.418																																																0													129	108	114					10																	51028292		692	1591	2283	SO:0001583	missense	8505			AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.1240T>A	chr10.hg19:g.51028292A>T	ENSP00000384408:p.Tyr414Asn		A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.5|28.5	4.922052|4.922052	0.92319|0.92319	.|.	.|.	ENSG00000227345|ENSG00000227345	ENST00000432127|ENST00000402038	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|.	.|.	.|.	.|.	D|D	0.84447|0.84447	0.5474|0.5474	M|M	0.87971|0.87971	2.92|2.92	.|.	.|.	.|.	.|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	.|0.999;1.0;0.999;0.999;0.999;0.999;1.0	D|D	0.87072|0.87072	0.2160|0.2160	4|7	.|0.87932	.|D	.|0	-13.0842|-13.0842	16.5582|16.5582	0.84512|0.84512	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|817;899;450;167;414;439;899	.|Q86W56-2;Q86W56;A5YBK3;B4DHS4;Q5SQP4;B4DX76;Q0MQR4	.|.;PARG_HUMAN;.;.;.;.;.	L|N	114|414	.|.	.|ENSP00000384408:Y414N	F|Y	-|-	3|1	2|0	PARG|PARG	50698298|50698298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.383000|8.383000	0.90157|0.90157	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	TTT|TAT		0.418	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		T	51028292	A	T	51028292	3	4	233	1	0	0	0	0	1	0	0	0	11450	362	13	5	243	5	PARG	10	51028292	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	4	51028292	84506455	55	14212	109	2									
TET1	80312	hgsc.bcm.edu	37	10	70446307	70446307	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr10:70446307delG	ENST00000373644.4	+	11	5456	c.5247delG	c.(5245-5247)cagfs	p.Q1749fs		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1749					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTTTCACTCAGCCTGTTCCCC	0.507																																																0													104	105	105					10																	70446307		2203	4300	6503	SO:0001589	frameshift_variant	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5247delG	chr10.hg19:g.70446307delG	ENSP00000362748:p.Gln1749fs		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Frame_Shift_Del	DEL	ENST00000373644.4	hg19	CCDS7281.1																																																																																				0.507	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		-	70446307	G	-	70446307	7	5	233	1	0	1	0	1	0	0	0	0	15774	962	34	0	5285	0	TET1	10	70446307	Frame_Shift_Del	DEL	G	TCGA-B1-A47M-01A-11D-A25F-10	19418015	70446307	65088440	56	14213											
SMC3	9126	hgsc.bcm.edu	37	10	112361757	112361757	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr10:112361757T>A	ENST00000361804.4	+	25	3052	c.2926T>A	c.(2926-2928)Tta>Ata	p.L976I		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	976					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CAACACAGAATTAAAGAAGTA	0.303																																																0													46	48	47					10																	112361757		2201	4300	6501	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2926T>A	chr10.hg19:g.112361757T>A	ENSP00000354720:p.Leu976Ile		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	hg19	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669080	0.67814	.	.	ENSG00000108055	ENST00000361804	T	0.76839	-1.05	5.32	1.32	0.21799	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.80243	0.4587	M	0.75884	2.315	0.80722	D	1	D	0.62365	0.991	D	0.63283	0.913	T	0.78021	-0.2367	10	0.07175	T	0.84	.	6.5259	0.22301	0.0:0.5503:0.0:0.4497	.	976	Q9UQE7	SMC3_HUMAN	I	976	ENSP00000354720:L976I	ENSP00000354720:L976I	L	+	1	2	SMC3	112351747	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.542000	0.53625	0.427000	0.26145	0.477000	0.44152	TTA		0.303	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		A	112361757	T	A	112361757	3	1	233	1	0	0	0	0	1	0	0	0	14790	1490	52	5	3024	5	SMC3	10	112361757	Missense_Mutation	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10	41915450	112361757	23172990	57	14214											
RAB11FIP2	22841	hgsc.bcm.edu	37	10	119798692	119798692	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr10:119798692C>A	ENST00000355624.3	-	3	1495	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E352D|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	352					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TCTCCCTTTTCTCTCTTTTAT	0.353																																																0													150	161	157					10																	119798692		2202	4300	6502	SO:0001583	missense	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1056G>T	chr10.hg19:g.119798692C>A	ENSP00000347839:p.Glu352Asp		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	hg19	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	C	9.205	1.029505	0.19512	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.66638	-0.21;-0.22	5.76	0.259	0.15583	.	0.171402	0.53938	D	0.000046	T	0.51584	0.1683	L	0.50333	1.59	0.44627	D	0.997603	B;B	0.16166	0.016;0.007	B;B	0.13407	0.009;0.004	T	0.27157	-1.0082	10	0.17369	T	0.5	-21.6296	6.802	0.23756	0.0:0.5332:0.1101:0.3567	.	352;352	Q3I768;Q7L804	.;RFIP2_HUMAN	D	352	ENSP00000347839:E352D;ENSP00000358200:E352D	ENSP00000347839:E352D	E	-	3	2	RAB11FIP2	119788682	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.171000	0.31896	0.067000	0.16545	-0.355000	0.07637	GAG		0.353	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		A	119798692	C	A	119798692	3	1	233	1	0	0	0	0	1	0	0	0	12900	912	32	4	494	4	RAB11FIP2	10	119798692	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	7436935	119798692	15736055	58	14215											
OR51E1	143503	hgsc.bcm.edu	37	11	4674486	4674486	+	Missense_Mutation	SNP	G	G	A	rs148787592		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr11:4674486G>A	ENST00000396952.5	+	2	1380	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V243I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACTTGCGTCTCTCATGT	0.498																																																1	Substitution - Missense(1)	large_intestine(1)						G	ILE/VAL	0,4402		0,0,2201	243	229	234		730	4	1	11	dbSNP_134	234	3,8593	3.0+/-9.4	0,3,4295	yes	missense	OR51E1	NM_152430.3	29	0,3,6496	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	244/319	4674486	3,12995	2201	4298	6499	SO:0001583	missense	143503			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.730G>A	chr11.hg19:g.4674486G>A	ENSP00000380155:p.Val244Ile		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	hg19	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	G	9.642	1.139187	0.21205	0.0	3.49E-4	ENSG00000180785	ENST00000396952	T	0.37584	1.19	4.89	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.255092	0.27563	N	0.018809	T	0.18551	0.0445	N	0.20881	0.62	0.80722	D	1	P	0.43826	0.818	B	0.37239	0.244	T	0.05007	-1.0912	10	0.07644	T	0.81	.	9.4332	0.38624	0.1719:0.0:0.8281:0.0	.	243	Q8TCB6	O51E1_HUMAN	I	244	ENSP00000380155:V244I	ENSP00000380155:V244I	V	+	1	0	OR51E1	4631062	0.000000	0.05858	1.000000	0.80357	0.830000	0.47004	0.514000	0.22786	1.435000	0.47434	0.655000	0.94253	GTC		0.498	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		A	4674486	G	A	4674486	3	1	233	1	0	0	0	0	1	0	0	0	11096	1145	40	1	732	1	OR51E1	11	4674486	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10		4674486	130332030	59	14216											
ZDHHC5	25921	hgsc.bcm.edu	37	11	57466844	57466844	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr11:57466844G>A	ENST00000287169.3	+	11	3298	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.V593I	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	646					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCAACCTGGTGTCTCTGAGAC	0.527																																																0													60	62	61					11																	57466844		2201	4296	6497	SO:0001583	missense	25921			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1936G>A	chr11.hg19:g.57466844G>A	ENSP00000287169:p.Val646Ile		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	hg19	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	8.863	0.947386	0.18356	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.57436	0.4;1.41	5.83	5.83	0.93111	.	1.629370	0.03465	N	0.212746	T	0.55242	0.1908	N	0.11427	0.14	0.43043	D	0.994634	P	0.42584	0.784	P	0.55391	0.775	T	0.48525	-0.9028	10	0.08381	T	0.77	-21.3343	17.8915	0.88874	0.0:0.0:1.0:0.0	.	646	Q9C0B5	ZDHC5_HUMAN	I	593;646	ENSP00000432202:V593I;ENSP00000287169:V646I	ENSP00000287169:V646I	V	+	1	0	ZDHHC5	57223420	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.646000	0.46630	2.769000	0.95229	0.655000	0.94253	GTC		0.527	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		A	57466844	G	A	57466844	3	1	233	1	0	0	0	0	1	0	0	0	17623	1377	48	2	1974	2	ZDHHC5	11	57466844	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	52792358	57466844	77539672	60	14217											
ARL2	402	hgsc.bcm.edu	37	11	64789247	64789247	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr11:64789247G>A	ENST00000246747.4	+	5	570	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ARL2_ENST00000533729.1_Missense_Mutation_p.A132T|ARL2_ENST00000529384.1_Missense_Mutation_p.A159T|RP11-399J13.3_ENST00000301886.3_Intron	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	159					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)	p.A159T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGGCTGCAGCGCCGTCACCGG	0.627																																																1	Substitution - Missense(1)	lung(1)											56	49	51					11																	64789247		2201	4297	6498	SO:0001583	missense	402			AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.475G>A	chr11.hg19:g.64789247G>A	ENSP00000246747:p.Ala159Thr		G3V184|Q9BUK8	Missense_Mutation	SNP	ENST00000246747.4	hg19	CCDS8088.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153338	0.94645	.	.	ENSG00000213465	ENST00000246747;ENST00000529384;ENST00000533729	D;D;D	0.91351	-2.83;-2.83;-2.83	4.5	4.5	0.54988	.	0.000000	0.85682	U	0.000000	D	0.96222	0.8768	H	0.94385	3.53	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	D	0.97253	0.9899	10	0.87932	D	0	-17.1644	14.7471	0.69496	0.0:0.0:1.0:0.0	.	159	P36404	ARL2_HUMAN	T	159;159;132	ENSP00000246747:A159T;ENSP00000436021:A159T;ENSP00000432971:A132T	ENSP00000246747:A159T	A	+	1	0	ARL2	64545823	1.000000	0.71417	0.984000	0.44739	0.890000	0.51754	8.981000	0.93465	2.343000	0.79666	0.484000	0.47621	GCC		0.627	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1	NM_001667		A	64789247	G	A	64789247	3	1	233	1	0	0	0	0	1	0	0	0	933	1087	38	1	493	1	ARL2	11	64789247	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	7322403	64789247	70217269	61	14218											
IL10RA	3587	hgsc.bcm.edu	37	11	117869943	117869943	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr11:117869943G>T	ENST00000227752.3	+	7	1444	c.1324G>T	c.(1324-1326)Gca>Tca	p.A442S	IL10RA_ENST00000541785.1_Missense_Mutation_p.A422S|IL10RA_ENST00000545409.1_Missense_Mutation_p.A293S|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	442					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AGCTGCTGTGGCATTCCAGGG	0.637																																																0													79	77	78					11																	117869943		2200	4296	6496	SO:0001583	missense	3587			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.1324G>T	chr11.hg19:g.117869943G>T	ENSP00000227752:p.Ala442Ser		A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	hg19	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007738	0.35415	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.24723	1.84;1.84;1.84	5.83	2.69	0.31865	.	4.801410	0.00447	N	0.000099	T	0.28566	0.0707	L	0.60455	1.87	0.09310	N	1	B;B	0.26845	0.161;0.1	B;B	0.23852	0.049;0.024	T	0.20605	-1.0270	10	0.41790	T	0.15	-4.9837	6.4798	0.22057	0.1701:0.1494:0.6805:0.0	.	422;442	F5GYV8;Q13651	.;I10R1_HUMAN	S	442;422;293;422	ENSP00000227752:A442S;ENSP00000441397:A422S;ENSP00000443019:A293S	ENSP00000227752:A442S	A	+	1	0	IL10RA	117375153	0.268000	0.24133	0.043000	0.18650	0.009000	0.06853	0.801000	0.27055	1.438000	0.47492	0.563000	0.77884	GCA		0.637	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			T	117869943	G	T	117869943	3	4	233	1	0	0	0	0	1	0	0	0	7622	1203	42	4	1350	4	IL10RA	11	117869943	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	53080696	117869943	17136573	62	14219											
NAB2	4665	hgsc.bcm.edu	37	12	57486863	57486863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr12:57486863delC	ENST00000300131.3	+	5	1539	c.1161delC	c.(1159-1161)cacfs	p.H387fs	NAB2_ENST00000342556.6_Frame_Shift_Del_p.H387fs|NAB2_ENST00000357680.4_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	387					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AACAGAGTCACCCTGAAATCC	0.622																																																0													108	118	115					12																	57486863		2203	4300	6503	SO:0001589	frameshift_variant	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1161delC	chr12.hg19:g.57486863delC	ENSP00000300131:p.His387fs		B2RAK3|O76006|Q14797	Frame_Shift_Del	DEL	ENST00000300131.3	hg19	CCDS8930.1																																																																																				0.622	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		-	57486863	C	-	57486863	7	5	233	1	0	1	0	1	0	0	0	0	10134	506	18	0	1179	0	NAB2	12	57486863	Frame_Shift_Del	DEL	C	TCGA-B1-A47M-01A-11D-A25F-10		57486863	76365032	63	14220											
SLC25A15	10166	hgsc.bcm.edu	37	13	41381598	41381598	+	Splice_Site	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr13:41381598delA	ENST00000338625.4	+	5	857	c.621delA	c.(619-621)tta>tt	p.L207fs	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	207					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	AAGATGAATTAGGTAAATGTG	0.473																																																0													129	122	124					13																	41381598		2203	4300	6503	SO:0001630	splice_region_variant	10166			AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"Solute carriers"	10985	protein-coding gene	gene with protein product	"ornithine transporter 1"	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.622+1A>-	chr13.hg19:g.41381598delA			Q5VZD8|Q9HC45	Frame_Shift_Del	DEL	ENST00000338625.4	hg19	CCDS9373.1																																																																																				0.473	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276149.2	NM_014252	Frame_Shift_Del	-	41381598	A	-	41381598	8	5	233	1	0	1	0	1	0	0	1	0	14483	434	15	0	635	0	SLC25A15	13	41381598	Splice_Site	DEL	A	TCGA-B1-A47M-01A-11D-A25F-10		41381598	73788280	64	14221											
FBXO33	254170	hgsc.bcm.edu	37	14	39871674	39871674	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:39871674A>G	ENST00000298097.7	-	2	978	c.641T>C	c.(640-642)cTa>cCa	p.L214P	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	214					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TTGCTGTTGTAGAACACTTAT	0.308																																																0													100	92	95					14																	39871674		2203	4298	6501	SO:0001583	missense	254170			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.641T>C	chr14.hg19:g.39871674A>G	ENSP00000298097:p.Leu214Pro		Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	ENST00000298097.7	hg19	CCDS9677.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366608	0.41902	.	.	ENSG00000165355	ENST00000298097	T	0.01279	5.06	6.08	6.08	0.98989	.	0.072360	0.56097	D	0.000025	T	0.02929	0.0087	L	0.32530	0.975	0.80722	D	1	P	0.50272	0.933	P	0.50440	0.641	T	0.69232	-0.5199	9	.	.	.	-1.7988	16.6438	0.85155	1.0:0.0:0.0:0.0	.	214	Q7Z6M2	FBX33_HUMAN	P	214	ENSP00000298097:L214P	.	L	-	2	0	FBXO33	38941425	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	8.486000	0.90451	2.333000	0.79357	0.533000	0.62120	CTA		0.308	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			G	39871674	A	G	39871674	3	3	233	1	0	0	0	0	1	0	0	0	5745	420	15	3	1038	3	FBXO33	14	39871674	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10		39871674	67477866	65	14222											
L2HGDH	79944	hgsc.bcm.edu	37	14	50713788	50713788	+	Silent	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:50713788T>C	ENST00000267436.4	-	10	1777	c.1380A>G	c.(1378-1380)agA>agG	p.R460R	L2HGDH_ENST00000421284.3_Silent_p.R460R|L2HGDH_ENST00000261699.4_Intron			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	460					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATAATTCAAATCTTTGTTGTA	0.328																																																0													49	48	49					14																	50713788		2203	4300	6503	SO:0001819	synonymous_variant	79944				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.1380A>G	chr14.hg19:g.50713788T>C			Q9BRR1	Silent	SNP	ENST00000267436.4	hg19	CCDS9698.1																																																																																				0.328	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		C	50713788	T	C	50713788	2	2	233	1	0	0	0	0	0	0	0	1	8592	1432	50	3		3	L2HGDH	14	50713788	Silent	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10	10842114	50713788	56635752	66	14223											
ADAM20	8748	hgsc.bcm.edu	37	14	70990728	70990729	+	Frame_Shift_Del	DEL	CT	CT	-	rs112672973		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:70990728_70990729delCT	ENST00000256389.3	-	2	1140_1141	c.896_897delAG	c.(895-897)gagfs	p.E299fs	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	249	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TTACATCAACCTCCAAAGGATG	0.347																																																0																																										SO:0001589	frameshift_variant	8748			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.896_897delAG	chr14.hg19:g.70990728_70990729delCT	ENSP00000256389:p.Glu299fs		Q6GTZ1|Q9UKJ9	Frame_Shift_Del	DEL	ENST00000256389.3	hg19	CCDS32111.1																																																																																				0.347	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			-	70990729	CT	-	70990728	7	5	233	1	0	1	0	1	0	0	0	0	242	680	24	0	1437	0	ADAM20	14	70990728	Frame_Shift_Del	DEL	CT	TCGA-B1-A47M-01A-11D-A25F-10	20276940	70990728	36358812	67	14224											
C14orf115	55237	hgsc.bcm.edu	37	14	74824279	74824279	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:74824279T>A	ENST00000256362.4	+	2	1034	c.793T>A	c.(793-795)Tca>Aca	p.S265T		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	265					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCCCCACTCTCATCGCCGGC	0.637																																																0													39	39	39					14																	74824279		2203	4300	6503	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.793T>A	chr14.hg19:g.74824279T>A	ENSP00000256362:p.Ser265Thr		Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	hg19	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.670536	0.00758	.	.	ENSG00000133980	ENST00000256362	T	0.42131	0.98	4.34	2.42	0.29668	.	0.896444	0.09544	N	0.787929	T	0.20047	0.0482	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.27191	-1.0081	10	0.18276	T	0.48	0.001	5.0154	0.14333	0.0:0.5664:0.2316:0.202	.	265	Q9H8Y1	VRTN_HUMAN	T	265	ENSP00000256362:S265T	ENSP00000256362:S265T	S	+	1	0	VRTN	73894032	0.614000	0.27017	0.014000	0.15608	0.005000	0.04900	2.793000	0.47845	0.762000	0.33152	-0.337000	0.08149	TCA		0.637	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		A	74824279	T	A	74824279	3	1	233	1	0	0	0	0	1	0	0	0	1742	1551	54	5	795	5	C14orf115	14	74824279	Missense_Mutation	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10	3833551	74824279	32525261	68	14225											
GALC	2581	hgsc.bcm.edu	37	14	88412007	88412007	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:88412007A>C	ENST00000261304.2	-	14	1666	c.1560T>G	c.(1558-1560)atT>atG	p.I520M	GALC_ENST00000544807.2_Missense_Mutation_p.I464M|GALC_ENST00000393569.2_Missense_Mutation_p.I494M|GALC_ENST00000393568.4_Missense_Mutation_p.I497M	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	520					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGGGTCTTCAATATTTGTAA	0.398																																																0													88	87	87					14																	88412007		1838	4079	5917	SO:0001583	missense	2581			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1560T>G	chr14.hg19:g.88412007A>C	ENSP00000261304:p.Ile520Met		B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	hg19	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.451307	0.01080	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	5.51	-11.0	0.00169	.	2.091110	0.01473	N	0.016351	D	0.85796	0.5780	N	0.12746	0.255	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.002;0.001	B;B;B;B	0.15052	0.007;0.012;0.012;0.012	T	0.76288	-0.3014	10	0.46703	T	0.11	4.0145	13.9406	0.64052	0.283:0.3027:0.4142:0.0	.	464;497;494;520	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	M	520;464;494;309;497	ENSP00000261304:I520M;ENSP00000437513:I464M;ENSP00000377199:I494M;ENSP00000377198:I497M	ENSP00000261304:I520M	I	-	3	3	GALC	87481760	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.299000	0.01139	-6.093000	0.00006	-2.649000	0.00149	ATT		0.398	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			C	88412007	A	C	88412007	3	2	233	1	0	0	0	0	1	0	0	0	6203	126	5	5	513	5	GALC	14	88412007	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	13587728	88412007	18937533	69	14226											
CALM1	801	hgsc.bcm.edu	37	14	90870815	90870815	+	Silent	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:90870815C>T	ENST00000356978.4	+	5	626	c.378C>T	c.(376-378)atC>atT	p.I126I	RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000544280.2_Silent_p.I90I|CALM1_ENST00000553542.1_Silent_p.I90I|CALM1_ENST00000447653.3_Silent_p.I127I	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	126	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	ATGAAATGATCAGAGAAGCAG	0.388																																																0													135	127	130					14																	90870815		2203	4300	6503	SO:0001819	synonymous_variant	801				CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"EF-hand domain containing", "Endogenous ligands"	1442	protein-coding gene	gene with protein product	"prepro-calmodulin 1"	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.378C>T	chr14.hg19:g.90870815C>T			P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Silent	SNP	ENST00000356978.4	hg19	CCDS9892.1																																																																																				0.388	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411346.1			T	90870815	C	T	90870815	2	4	233	1	0	0	0	0	0	0	0	1	2586	816	29	2		2	CALM1	14	90870815	Silent	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	2458808	90870815	16478725	70	14227											
ATP10A	57194	hgsc.bcm.edu	37	15	25981205	25981205	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr15:25981205G>A	ENST00000356865.6	-	3	849	c.738C>T	c.(736-738)tgC>tgT	p.C246C	RNA5SP390_ENST00000410191.1_RNA	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	246					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATACTCACATGCAGCCGCGAA	0.448																																																0													148	100	116					15																	25981205		2203	4300	6503	SO:0001819	synonymous_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.738C>T	chr15.hg19:g.25981205G>A			Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	hg19	CCDS32178.1																																																																																				0.448	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		A	25981205	G	A	25981205	2	1	233	1	0	0	0	0	0	0	0	1	1116	1311	46	2		2	ATP10A	15	25981205	Silent	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10		25981205	76550187	71	14228											
SECISBP2L	9728	hgsc.bcm.edu	37	15	49293279	49293279	+	Silent	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr15:49293279A>C	ENST00000559471.1	-	15	2306	c.2043T>G	c.(2041-2043)gtT>gtG	p.V681V	SECISBP2L_ENST00000559122.1_5'UTR|SECISBP2L_ENST00000261847.3_Silent_p.V636V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	681							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTTTACAAAGAACCTGATTAC	0.338																																																0													60	54	56					15																	49293279		2197	4295	6492	SO:0001819	synonymous_variant	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2043T>G	chr15.hg19:g.49293279A>C			Q8N767	Silent	SNP	ENST00000559471.1	hg19	CCDS53942.1																																																																																				0.338	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		C	49293279	A	C	49293279	2	2	233	1	0	0	0	0	0	0	0	1	14013	233	9	5		5	SECISBP2L	15	49293279	Silent	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	23312074	49293279	53238113	72	14229											
TEX9	374618	hgsc.bcm.edu	37	15	56686956	56686956	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr15:56686956delA	ENST00000352903.2	+	9	776	c.752delA	c.(751-753)gaafs	p.E251fs	TEX9_ENST00000537232.1_Frame_Shift_Del_p.E176fs|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000560582.1_Frame_Shift_Del_p.E7fs|TEX9_ENST00000561221.2_Frame_Shift_Del_p.E251fs|TEX9_ENST00000558083.2_Frame_Shift_Del_p.E176fs	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	251										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TCTCAAGTAGAAAAATACAAA	0.303																																																0													46	50	49					15																	56686956		2191	4284	6475	SO:0001589	frameshift_variant	374618			BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"testis expressed sequence 9"				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.752delA	chr15.hg19:g.56686956delA	ENSP00000342169:p.Glu251fs		B4DH73	Frame_Shift_Del	DEL	ENST00000352903.2	hg19	CCDS10157.1																																																																																				0.303	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		-	56686956	A	-	56686956	7	5	233	1	0	1	0	1	0	0	0	0	15789	246	9	0	786	0	TEX9	15	56686956	Frame_Shift_Del	DEL	A	TCGA-B1-A47M-01A-11D-A25F-10	7393677	56686956	45844436	73	14230											
ARL2BP	23568	hgsc.bcm.edu	37	16	57283687	57283687	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr16:57283687G>T	ENST00000219204.3	+	4	486	c.216G>T	c.(214-216)ttG>ttT	p.L72F	RP11-407G23.3_ENST00000564376.1_RNA|ARL2BP_ENST00000562023.1_Intron|RP11-407G23.4_ENST00000562409.1_RNA	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	72					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						AGATTTCTTTGGTAGAAAAAT	0.423																																																0													126	128	127					16																	57283687		2198	4300	6498	SO:0001583	missense	23568			AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"binder of Arl2"	615407	"retinitis pigmentosa 66 (autosomal recessive)"	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.216G>T	chr16.hg19:g.57283687G>T	ENSP00000219204:p.Leu72Phe		B3KQJ5|Q504R0	Missense_Mutation	SNP	ENST00000219204.3	hg19	CCDS10776.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139821	0.56936	.	.	ENSG00000102931	ENST00000219204	T	0.54071	0.59	5.95	2.95	0.34219	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.127524	0.37095	U	0.002259	T	0.70360	0.3215	M	0.88310	2.945	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.70716	0.97;0.934	T	0.68372	-0.5426	10	0.62326	D	0.03	-7.9781	5.1654	0.15082	0.2858:0.0:0.5774:0.1368	.	40;72	B4DQD8;Q9Y2Y0	.;AR2BP_HUMAN	F	72	ENSP00000219204:L72F	ENSP00000219204:L72F	L	+	3	2	ARL2BP	55841188	1.000000	0.71417	0.996000	0.52242	0.684000	0.39900	2.160000	0.42348	0.418000	0.25898	0.655000	0.94253	TTG		0.423	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257334.2	NM_012106		T	57283687	G	T	57283687	3	4	233	1	0	0	0	0	1	0	0	0	934	1339	47	4	230	4	ARL2BP	16	57283687	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10		57283687	33071066	74	14231											
KCTD11	147040	hgsc.bcm.edu	37	17	7256621	7256621	+	Silent	SNP	C	C	T	rs79616684		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:7256621C>T	ENST00000333751.3	+	1	1414	c.360C>T	c.(358-360)gaC>gaT	p.D120D	TMEM95_ENST00000330767.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	120					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				TCCAGGTGGACACCTTCCGAG	0.627																																																0													89	72	78					17																	7256621		2203	4300	6503	SO:0001819	synonymous_variant	147040			AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"chromosome 17 open reading frame 36", "potassium channel tetramerisation domain containing 11"	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.360C>T	chr17.hg19:g.7256621C>T			B3KPE0	Silent	SNP	ENST00000333751.3	hg19	CCDS32545.1																																																																																				0.627	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		T	7256621	C	T	7256621	2	4	233	1	0	0	0	0	0	0	0	1	8100	477	17	2		2	KCTD11	17	7256621	Silent	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10		7256621	73938589	75	14232											
PEX12	5193	hgsc.bcm.edu	37	17	33904481	33904481	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:33904481A>C	ENST00000225873.4	-	2	863	c.256T>G	c.(256-258)Ttt>Gtt	p.F86V	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	86					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGCCGTAAAAGTTTTCAGAA	0.423																																																0													149	167	161					17																	33904481		2203	4300	6503	SO:0001583	missense	5193			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.256T>G	chr17.hg19:g.33904481A>C	ENSP00000225873:p.Phe86Val		B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	hg19	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845090	0.91197	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.85171	-1.95	5.63	5.63	0.86233	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93093	0.7801	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94107	0.7367	10	0.72032	D	0.01	-21.3132	15.0234	0.71650	1.0:0.0:0.0:0.0	.	86	O00623	PEX12_HUMAN	V	86	ENSP00000225873:F86V	ENSP00000225873:F86V	F	-	1	0	PEX12	30928594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.736000	0.74811	2.142000	0.66516	0.528000	0.53228	TTT		0.423	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		C	33904481	A	C	33904481	3	2	233	1	0	0	0	0	1	0	0	0	11742	72	3	5	831	5	PEX12	17	33904481	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	26647860	33904481	47290729	76	14233											
CDC6	990	hgsc.bcm.edu	37	17	38447445	38447445	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:38447445A>G	ENST00000209728.4	+	3	785	c.314A>G	c.(313-315)aAg>aGg	p.K105R		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	105					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTGACAATTAAGTCTCCTAGC	0.398																																																0													121	110	114					17																	38447445		2203	4300	6503	SO:0001583	missense	990			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.314A>G	chr17.hg19:g.38447445A>G	ENSP00000209728:p.Lys105Arg		Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	hg19	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819366	0.32145	.	.	ENSG00000094804	ENST00000209728	T	0.51071	0.72	5.52	4.25	0.50352	.	0.245750	0.38959	N	0.001502	T	0.36166	0.0957	M	0.63428	1.95	0.22666	N	0.998871	B	0.14805	0.011	B	0.10450	0.005	T	0.24476	-1.0159	10	0.09338	T	0.73	-12.0983	4.517	0.11939	0.7131:0.0:0.1193:0.1676	.	105	Q99741	CDC6_HUMAN	R	105	ENSP00000209728:K105R	ENSP00000209728:K105R	K	+	2	0	CDC6	35700971	0.007000	0.16637	0.979000	0.43373	0.951000	0.60555	0.662000	0.25038	2.227000	0.72691	0.454000	0.30748	AAG		0.398	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			G	38447445	A	G	38447445	3	3	233	1	0	0	0	0	1	0	0	0	3085	72	3	3	320	3	CDC6	17	38447445	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	4542964	38447445	42747765	77	14234											
HDAC5	10014	hgsc.bcm.edu	37	17	42160014	42160014	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:42160014G>C	ENST00000393622.2	-	20	2877	c.2546C>G	c.(2545-2547)gCc>gGc	p.A849G	HDAC5_ENST00000225983.6_Missense_Mutation_p.A850G|HDAC5_ENST00000586802.1_Missense_Mutation_p.A849G|HDAC5_ENST00000336057.5_Missense_Mutation_p.A764G	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	849	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGCGGTGATGGCTACAGAGTT	0.592																																																0													104	91	95					17																	42160014		2203	4300	6503	SO:0001583	missense	10014			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2546C>G	chr17.hg19:g.42160014G>C	ENSP00000377244:p.Ala849Gly		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	hg19	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172286	0.94807	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.74737	-0.87;-0.87;-0.87	4.98	4.98	0.66077	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.89093	0.6617	M	0.91818	3.245	0.80722	D	1	D;D;P;B	0.69078	0.987;0.997;0.512;0.235	D;D;P;P	0.87578	0.976;0.998;0.511;0.744	D	0.91712	0.5382	10	0.87932	D	0	-14.2335	17.0238	0.86440	0.0:0.0:1.0:0.0	.	764;849;850;849	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	G	850;849;764	ENSP00000225983:A850G;ENSP00000377244:A849G;ENSP00000337290:A764G	ENSP00000225983:A850G	A	-	2	0	HDAC5	39515540	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.842000	0.99487	2.317000	0.78254	0.561000	0.74099	GCC		0.592	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		C	42160014	G	C	42160014	3	2	233	1	0	0	0	0	1	0	0	0	7012	1203	42	4	854	4	HDAC5	17	42160014	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	3712569	42160014	39035196	78	14235											
WNT9B	7484	hgsc.bcm.edu	37	17	44952592	44952592	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:44952592C>T	ENST00000290015.2	+	3	513	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	WNT9B_ENST00000393461.2_Missense_Mutation_p.R154W	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	154					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTGGAGAGCCGGCAGGCCTG	0.662																																																0													58	61	60					17																	44952592		2203	4300	6503	SO:0001583	missense	7484			AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.460C>T	chr17.hg19:g.44952592C>T	ENSP00000290015:p.Arg154Trp		Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	hg19	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707667	0.89018	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.76709	-1.04;-1.04	4.61	3.63	0.41609	.	0.058491	0.64402	D	0.000001	D	0.88672	0.6500	M	0.87097	2.86	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.983	D	0.90582	0.4530	10	0.66056	D	0.02	.	14.3984	0.67027	0.1489:0.8511:0.0:0.0	.	154;154	E7EPC3;O14905	.;WNT9B_HUMAN	W	148;154;154	ENSP00000377105:R154W;ENSP00000290015:R154W	ENSP00000290015:R154W	R	+	1	2	WNT9B	42307591	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.904000	0.56325	1.262000	0.44165	0.462000	0.41574	CGG		0.662	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		T	44952592	C	T	44952592	3	4	233	1	0	0	0	0	1	0	0	0	17404	643	23	1	470	1	WNT9B	17	44952592	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	2792578	44952592	36242618	79	14236											
NOL11	25926	hgsc.bcm.edu	37	17	65739904	65739904	+	Missense_Mutation	SNP	G	G	A	rs370393293		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:65739904G>A	ENST00000253247.4	+	18	2204	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	SNORA38B_ENST00000363524.1_RNA|NOL11_ENST00000535137.1_Missense_Mutation_p.E515K	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	697					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGTTTTCGGGAGCTACAGAA	0.299																																																0								G	LYS/GLU	0,4404		0,0,2202	45	49	47		2089	4.2	1	17		47	1,8595	1.2+/-3.3	0,1,4297	no	missense	NOL11	NM_015462.3	56	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	697/720	65739904	1,12999	2202	4298	6500	SO:0001583	missense	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.2089G>A	chr17.hg19:g.65739904G>A	ENSP00000253247:p.Glu697Lys		B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	hg19	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954162	0.73902	0.0	1.16E-4	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.48836	0.8	5.27	4.25	0.50352	.	0.057766	0.64402	D	0.000002	T	0.51686	0.1689	M	0.74258	2.255	0.50813	D	0.999891	P	0.48294	0.908	B	0.44224	0.444	T	0.59994	-0.7349	10	0.56958	D	0.05	-20.9764	13.8316	0.63384	0.0:0.1531:0.8468:0.0	.	697	Q9H8H0	NOL11_HUMAN	K	697;515	ENSP00000253247:E697K	ENSP00000253247:E697K	E	+	1	0	NOL11	63170366	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.909000	0.63314	2.626000	0.88956	0.655000	0.94253	GAG		0.299	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		A	65739904	G	A	65739904	3	1	233	1	0	0	0	0	1	0	0	0	10523	1175	41	2	2159	2	NOL11	17	65739904	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	20787312	65739904	15455306	80	14237											
TTR	7276	hgsc.bcm.edu	37	18	29178601	29178601	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr18:29178601A>G	ENST00000237014.3	+	4	584	c.407A>G	c.(406-408)tAt>tGt	p.Y136C		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	136	Thyroid hormone binding.		Y -> S (in AMYL-TTR; amyloid polyneuropathy). {ECO:0000269|PubMed:10627135}.|Y -> V (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:3675594}.		extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCCTACTCCTATTCCACCACG	0.552																																																0			GRCh37	CM971541	TTR	M							80	67	72					18																	29178601		2203	4300	6503	SO:0001583	missense	7276			M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"prealbumin, amyloidosis type I", "carpal tunnel syndrome 1"	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.407A>G	chr18.hg19:g.29178601A>G	ENSP00000237014:p.Tyr136Cys		Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	ENST00000237014.3	hg19	CCDS11899.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089090	0.55968	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.98120	-4.73	6.08	3.5	0.40072	Transthyretin, conserved site (1);Transthyretin/hydroxyisourate hydrolase, superfamily (4);	0.246709	0.42294	D	0.000722	D	0.98957	0.9645	H	0.96301	3.8	0.52501	D	0.999955	D	0.89917	1.0	D	0.87578	0.998	D	0.98496	1.0612	10	0.87932	D	0	-18.6558	10.7142	0.46002	0.7084:0.0:0.0:0.2916	.	136	P02766	TTHY_HUMAN	C	136;173;128	ENSP00000237014:Y136C	ENSP00000237014:Y136C	Y	+	2	0	TTR	27432599	0.995000	0.38212	0.908000	0.35775	0.474000	0.32979	3.175000	0.50855	2.333000	0.79357	0.482000	0.46254	TAT		0.552	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254948.1	NM_000371		G	29178601	A	G	29178601	3	3	233	1	0	0	0	0	1	0	0	0	16743	449	16	3	421	3	TTR	18	29178601	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10		29178601	48898647	81	14238											
C18orf21	83608	hgsc.bcm.edu	37	18	33558958	33558958	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr18:33558958C>G	ENST00000592875.1	+	5	1298	c.652C>G	c.(652-654)Ctt>Gtt	p.L218V	C18orf21_ENST00000333234.5_Missense_Mutation_p.L130V	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	218										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GAAGGGTGGACTTTTAAAATA	0.308																																																0													50	54	53					18																	33558958		2202	4300	6502	SO:0001583	missense	83608			BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.652C>G	chr18.hg19:g.33558958C>G	ENSP00000465517:p.Leu218Val		Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	ENST00000592875.1	hg19	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697544	0.48307	.	.	ENSG00000141428	ENST00000333234;ENST00000269194	.	.	.	5.34	1.6	0.23607	.	.	.	.	.	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.18741	0.03	B	0.21151	0.033	T	0.20405	-1.0276	8	0.87932	D	0	.	3.9349	0.09301	0.1694:0.5002:0.0:0.3305	.	218	Q32NC0	CR021_HUMAN	V	218;130	.	ENSP00000269194:L130V	L	+	1	0	C18orf21	31812956	0.136000	0.22515	0.033000	0.17914	0.167000	0.22549	-0.006000	0.12833	0.641000	0.30601	0.655000	0.94253	CTT		0.308	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446		G	33558958	C	G	33558958	3	3	233	1	0	0	0	0	1	0	0	0	1899	565	20	4	670	4	C18orf21	18	33558958	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	4380357	33558958	44518290	82	14239											
TSHZ1	10194	hgsc.bcm.edu	37	18	72999467	72999468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr18:72999467_72999468insA	ENST00000580243.1	+	2	2453_2454	c.2105_2106insA	c.(2104-2109)gccaaafs	p.K703fs	TSHZ1_ENST00000322038.5_Frame_Shift_Ins_p.K658fs			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	703					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACTGGGAAGGCCAAAAAGGAGG	0.55																																																0																																										SO:0001589	frameshift_variant	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	Exception_encountered	chr18.hg19:g.72999467_72999468insA	ENSP00000464391:p.Lys703fs		O60534|Q4LE29|Q53EU4	Frame_Shift_Ins	INS	ENST00000580243.1	hg19																																																																																					0.55	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		A	72999468	-	A	72999467	7	5	233	1	0	1	1	0	0	0	0	0	16628	739	26	0	1972	0	TSHZ1	18	72999467	Frame_Shift_Ins	INS	-	TCGA-B1-A47M-01A-11D-A25F-10	39440509	72999467	5077781	83	14240	110	3									
TSHZ1	10194	hgsc.bcm.edu	37	18	72999468	72999468	+	Silent	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr18:72999468C>A	ENST00000580243.1	+	2	2454	c.2106C>A	c.(2104-2106)gcC>gcA	p.A702A	TSHZ1_ENST00000322038.5_Silent_p.A657A			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	702					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTGGGAAGGCCAAAAAGGAGG	0.547																																																0													99	88	92					18																	72999468		2203	4300	6503	SO:0001819	synonymous_variant	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2106C>A	chr18.hg19:g.72999468C>A			O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	hg19																																																																																					0.547	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		A	72999468	C	A	72999468	2	1	233	1	0	0	0	0	0	0	0	1	16628	581	21	4		4	TSHZ1	18	72999468	Silent	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	1	72999468	5077780	84	14241	110	3									
TSHZ1	10194	hgsc.bcm.edu	37	18	72999471	72999472	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr18:72999471_72999472insA	ENST00000580243.1	+	2	2457_2458	c.2109_2110insA	c.(2110-2112)aagfs	p.K704fs	TSHZ1_ENST00000322038.5_Frame_Shift_Ins_p.K659fs			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	704					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGAAGGCCAAAAAGGAGGGACC	0.545																																																0																																										SO:0001589	frameshift_variant	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2111dupA	chr18.hg19:g.72999473_72999473dupA	ENSP00000464391:p.Lys704fs		O60534|Q4LE29|Q53EU4	Frame_Shift_Ins	INS	ENST00000580243.1	hg19																																																																																					0.545	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		A	72999472	-	A	72999471	7	5	233	1	0	1	1	0	0	0	0	0	16628	11	1	0	1976	0	TSHZ1	18	72999471	Frame_Shift_Ins	INS	-	TCGA-B1-A47M-01A-11D-A25F-10	3	72999471	5077777	85	14242	110	3									
SF4	57794	hgsc.bcm.edu	37	19	19427332	19427332	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:19427332C>G	ENST00000247001.5	-	2	452	c.105G>C	c.(103-105)caG>caC	p.Q35H	SUGP1_ENST00000334782.5_Missense_Mutation_p.Q35H|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	35					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TGAGCTCTTCCTGGTGAAGGA	0.517																																																0													137	103	114					19																	19427332		2203	4300	6503	SO:0001583	missense	57794			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.105G>C	chr19.hg19:g.19427332C>G	ENSP00000247001:p.Gln35His		O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	hg19	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460953	0.63513	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	T	0.54279	0.58	4.88	-3.34	0.04943	.	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.73962	2.25	0.50039	D	0.999841	D	0.71674	0.998	D	0.79784	0.993	T	0.67237	-0.5721	10	0.87932	D	0	.	10.2244	0.43216	0.0:0.2929:0.0:0.7071	.	35	Q8IWZ8	SUGP1_HUMAN	H	35	ENSP00000247001:Q35H	ENSP00000247001:Q35H	Q	-	3	2	SUGP1	19288332	0.067000	0.21026	0.993000	0.49108	0.968000	0.65278	-1.275000	0.02817	-0.260000	0.09418	-0.258000	0.10820	CAG		0.517	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		G	19427332	C	G	19427332	3	3	233	1	0	0	0	0	1	0	0	0	14161	680	24	4	1884	4	SF4	19	19427332	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10		19427332	39701651	86	14243											
ZNF567	163081	hgsc.bcm.edu	37	19	37210700	37210701	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:37210700_37210701TC>AT	ENST00000536254.2	+	6	1296_1297	c.1074_1075TC>AT	c.(1072-1077)acTCac>acATac	p.H359Y	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.H328Y|ZNF567_ENST00000588311.1_Missense_Mutation_p.H328Y|ZNF567_ENST00000392163.2_Missense_Mutation_p.H328Y|ZNF567_ENST00000585696.1_Missense_Mutation_p.H328Y			Q8N184	ZN567_HUMAN	zinc finger protein 567	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCAGAGAACTCACACGGGAGA	0.455																																																0																																										SO:0001583	missense	163081			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		Exception_encountered	chr19.hg19:g.37210700_37210701delinsAT	ENSP00000441838:p.His359Tyr		B3KX49|Q6N044	Silent|Missense_Mutation	SNP	ENST00000536254.2	hg19																																																																																					0.455	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		AT	37210701	TC	AT	37210700	3	1	233	1	0	0	0	0	1	0	0	0	18003	1538	54	5	991	5	ZNF567	19	37210700	Missense_Mutation	DNP	TC	TCGA-B1-A47M-01A-11D-A25F-10	17783368	37210700	21918283	87	14244											
ZNF569	148266	hgsc.bcm.edu	37	19	37904781	37904781	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:37904781T>C	ENST00000316950.6	-	6	1336	c.779A>G	c.(778-780)cAt>cGt	p.H260R	ZNF569_ENST00000392149.2_Missense_Mutation_p.H260R|ZNF569_ENST00000392150.2_Missense_Mutation_p.H101R	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCTTTGATGTCTAATGAG	0.313																																																0													74	81	79					19																	37904781		2203	4299	6502	SO:0001583	missense	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.779A>G	chr19.hg19:g.37904781T>C	ENSP00000325018:p.His260Arg		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	hg19	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145205	0.57044	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	D;D	0.86865	-2.18;-2.18	3.8	2.75	0.32379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38897	N	0.001523	D	0.93265	0.7854	M	0.92555	3.32	0.42876	D	0.994154	D;D	0.76494	0.999;0.999	D;D	0.62955	0.909;0.909	D	0.92892	0.6332	10	0.87932	D	0	.	9.5174	0.39113	0.0:0.0:0.1787:0.8213	.	101;260	Q17RR6;Q5MCW4	.;ZN569_HUMAN	R	260;101	ENSP00000325018:H260R;ENSP00000375993:H101R	ENSP00000325018:H260R	H	-	2	0	ZNF569	42596621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.150000	0.50662	0.597000	0.29811	0.482000	0.46254	CAT		0.313	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		C	37904781	T	C	37904781	3	2	233	1	0	0	0	0	1	0	0	0	18005	1464	51	3	1285	3	ZNF569	19	37904781	Missense_Mutation	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10	694081	37904781	21224202	88	14245											
RABAC1	10567	hgsc.bcm.edu	37	19	42461228	42461228	+	Silent	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:42461228G>T	ENST00000222008.6	-	4	508	c.411C>A	c.(409-411)ggC>ggA	p.G137G	RABAC1_ENST00000601078.1_Silent_p.G43G|RABAC1_ENST00000601891.1_Intron	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	137						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	identical protein binding (GO:0042802)			central_nervous_system(1)|kidney(1)|prostate(1)	3						GGAAGGAGATGCCTCCAGCCA	0.642																																																0													77	75	76					19																	42461228		2203	4300	6503	SO:0001819	synonymous_variant	10567			AJ133534	CCDS12593.1	19q13.2	2012-09-20			ENSG00000105404	ENSG00000105404			9794	protein-coding gene	gene with protein product	"PRA1 domain family 1", "prenylated Rab acceptor 1"	604925				10329441, 10751420	Standard	NM_006423		Approved	PRA1, PRAF1, YIP3	uc002osf.3	Q9UI14		ENST00000222008.6:c.411C>A	chr19.hg19:g.42461228G>T			Q7Z4Y2|Q9Y3R1	Silent	SNP	ENST00000222008.6	hg19	CCDS12593.1																																																																																				0.642	RABAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463388.1	NM_006423		T	42461228	G	T	42461228	2	4	233	1	0	0	0	0	0	0	0	1	12966	1306	46	4		4	RABAC1	19	42461228	Silent	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	4556447	42461228	16667755	89	14246											
CCDC155	147872	hgsc.bcm.edu	37	19	49920441	49920441	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:49920441G>A	ENST00000447857.3	+	19	1670	c.1465G>A	c.(1465-1467)Gcc>Acc	p.A489T		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	489						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ACTCCAGCAAGCCCTGGTGCC	0.652																																																0													23	26	25					19																	49920441		1938	4124	6062	SO:0001583	missense	147872				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1465G>A	chr19.hg19:g.49920441G>A	ENSP00000404220:p.Ala489Thr		Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	hg19	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	g	16.07	3.019479	0.54576	.	.	ENSG00000161609	ENST00000447857	T	0.57595	0.39	3.88	3.88	0.44766	.	0.000000	0.46758	D	0.000279	T	0.68824	0.3043	M	0.72118	2.19	0.28879	N	0.89453	D;D	0.67145	0.996;0.996	D;D	0.79784	0.993;0.993	T	0.65179	-0.6231	10	0.87932	D	0	-7.7039	12.1446	0.54016	0.0:0.0:1.0:0.0	.	489;489	C9JGW3;Q8N6L0	.;CC155_HUMAN	T	489	ENSP00000404220:A489T	ENSP00000404220:A489T	A	+	1	0	CCDC155	54612253	0.984000	0.35163	0.893000	0.35052	0.131000	0.20780	4.606000	0.61126	2.123000	0.65237	0.444000	0.29173	GCC		0.652	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		A	49920441	G	A	49920441	3	1	233	1	0	0	0	0	1	0	0	0	2790	971	34	2	1535	2	CCDC155	19	49920441	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10	7459213	49920441	9208542	90	14247											
AP2A1	160	hgsc.bcm.edu	37	19	50285918	50285918	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:50285918A>G	ENST00000359032.5	+	4	410	c.410A>G	c.(409-411)aAc>aGc	p.N137S	AP2A1_ENST00000354293.5_Missense_Mutation_p.N137S|AP2A1_ENST00000600199.1_3'UTR	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	137					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCATCGCCAACGTGGGCAGC	0.657																																																0													32	33	32					19																	50285918		2157	4257	6414	SO:0001583	missense	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.410A>G	chr19.hg19:g.50285918A>G	ENSP00000351926:p.Asn137Ser		Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	hg19	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527703	0.64860	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.23950	1.88;1.88	5.54	5.54	0.83059	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.65975	2.015	0.80722	D	1	B;B	0.24533	0.025;0.105	B;B	0.28465	0.029;0.09	T	0.08617	-1.0713	10	0.52906	T	0.07	.	14.6526	0.68808	1.0:0.0:0.0:0.0	.	137;137	O95782-2;O95782	.;AP2A1_HUMAN	S	137	ENSP00000346246:N137S;ENSP00000351926:N137S	ENSP00000346246:N137S	N	+	2	0	AP2A1	54977730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.309000	0.96252	2.103000	0.63969	0.455000	0.32223	AAC		0.657	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			G	50285918	A	G	50285918	3	3	233	1	0	0	0	0	1	0	0	0	739	43	2	3	424	3	AP2A1	19	50285918	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	365477	50285918	8843065	91	14248											
JAG1	182	hgsc.bcm.edu	37	20	10639160	10639160	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr20:10639160T>G	ENST00000254958.5	-	4	1165	c.650A>C	c.(649-651)aAc>aCc	p.N217T	JAG1_ENST00000423891.2_Missense_Mutation_p.N58T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	217	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAAGTTTTGTTGCCATTCTG	0.493									Alagille Syndrome																																							0													126	119	121					20																	10639160		2203	4300	6503	SO:0001583	missense	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.650A>C	chr20.hg19:g.10639160T>G	ENSP00000254958:p.Asn217Thr		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	hg19	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463155	0.84425	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.96011	-3.88;-3.88	5.58	5.58	0.84498	Delta/Serrate/lag-2 (DSL) protein (3);	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	L	0.50333	1.59	0.80722	D	1	D	0.52996	0.957	P	0.51833	0.681	D	0.95419	0.8505	10	0.54805	T	0.06	.	15.7475	0.77958	0.0:0.0:0.0:1.0	.	217	P78504	JAG1_HUMAN	T	217;58	ENSP00000254958:N217T;ENSP00000389519:N58T	ENSP00000254958:N217T	N	-	2	0	JAG1	10587160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.124000	0.65301	0.460000	0.39030	AAC		0.493	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		G	10639160	T	G	10639160	3	3	233	1	0	0	0	0	1	0	0	0	7936	1725	60	5	3098	5	JAG1	20	10639160	Missense_Mutation	SNP	T	TCGA-B1-A47M-01A-11D-A25F-10		10639160	52386360	92	14249											
CTCFL	140690	hgsc.bcm.edu	37	20	56098141	56098141	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr20:56098141delT	ENST00000608263.1	-	2	1398	c.737delA	c.(736-738)aatfs	p.N246fs	CTCFL_ENST00000432255.2_Frame_Shift_Del_p.N246fs|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.N246fs|CTCFL_ENST00000433949.3_Frame_Shift_Del_p.N41fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.N246fs|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.N246fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.N246fs|CTCFL_ENST00000539382.1_Frame_Shift_Del_p.N41fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.N246fs|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.N246fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.N246fs|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.N246fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.N246fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.N246fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	246					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTTTCTTTGATTTTTTGTAGA	0.398																																																0													197	176	183					20																	56098141		2202	4300	6502	SO:0001589	frameshift_variant	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.737delA	chr20.hg19:g.56098141delT	ENSP00000476783:p.Asn246fs		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	hg19	CCDS13459.1																																																																																				0.398	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		-	56098141	T	-	56098141	7	5	233	1	0	1	0	1	0	0	0	0	4003	1493	52	0	1290	0	CTCFL	20	56098141	Frame_Shift_Del	DEL	T	TCGA-B1-A47M-01A-11D-A25F-10	45458981	56098141	6927379	93	14250											
MYT1	4661	hgsc.bcm.edu	37	20	62851117	62851117	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr20:62851117A>G	ENST00000328439.1	+	13	2387	c.2023A>G	c.(2023-2025)Aaa>Gaa	p.K675E	MYT1_ENST00000536311.1_Missense_Mutation_p.K702E|MYT1_ENST00000360149.4_Missense_Mutation_p.K377E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGCATGCACAAACACCGCAA	0.557																																					GBM(59;481 1041 20555 21139 33705)											0													107	99	102					20																	62851117		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2023A>G	chr20.hg19:g.62851117A>G	ENSP00000327465:p.Lys675Glu		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049072	0.75846	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.59083	0.29;0.29;0.29	5.75	5.75	0.90469	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	M	0.73598	2.24	0.58432	D	0.999999	D;D;P	0.55800	0.971;0.973;0.716	P;P;P	0.61874	0.641;0.895;0.487	T	0.77816	-0.2447	10	0.87932	D	0	-17.2533	16.0591	0.80826	1.0:0.0:0.0:0.0	.	702;675;377	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	E	377;675;702	ENSP00000353269:K377E;ENSP00000327465:K675E;ENSP00000442412:K702E	ENSP00000327465:K675E	K	+	1	0	MYT1	62321561	1.000000	0.71417	0.598000	0.28837	0.888000	0.51559	8.826000	0.92034	2.185000	0.69588	0.533000	0.62120	AAA		0.557	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		G	62851117	A	G	62851117	3	3	233	1	0	0	0	0	1	0	0	0	10108	131	5	3	2065	3	MYT1	20	62851117	Missense_Mutation	SNP	A	TCGA-B1-A47M-01A-11D-A25F-10	6752976	62851117	174403	94	14251											
DYRK1A	1859	hgsc.bcm.edu	37	21	38884349	38884349	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr21:38884349G>A	ENST00000398960.2	+	11	1882	c.1807G>A	c.(1807-1809)Ggt>Agt	p.G603S	DYRK1A_ENST00000455387.2_Missense_Mutation_p.G375S|DYRK1A_ENST00000339659.4_Missense_Mutation_p.G594S|DYRK1A_ENST00000338785.3_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	603					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCATCACCATGGTAACAGTTC	0.502																																					Melanoma(114;464 1602 31203 43785 45765)											0													115	98	104					21																	38884349		2203	4300	6503	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1807G>A	chr21.hg19:g.38884349G>A	ENSP00000381932:p.Gly603Ser		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	hg19	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221682	0.58560	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.55760	0.5;0.5;1.09	5.21	5.21	0.72293	.	0.298408	0.32459	N	0.006064	T	0.52725	0.1752	N	0.14661	0.345	0.53688	D	0.999979	D;D	0.60575	0.98;0.988	P;D	0.65010	0.855;0.931	T	0.44329	-0.9335	10	0.08599	T	0.76	.	18.785	0.91951	0.0:0.0:1.0:0.0	.	603;594	Q13627;Q13627-2	DYR1A_HUMAN;.	S	594;603;375	ENSP00000340373:G594S;ENSP00000381932:G603S;ENSP00000407854:G375S	ENSP00000340373:G594S	G	+	1	0	DYRK1A	37806219	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.746000	0.74866	2.434000	0.82447	0.655000	0.94253	GGT		0.502	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		A	38884349	G	A	38884349	3	1	233	1	0	0	0	0	1	0	0	0	4856	1348	47	2	1933	2	DYRK1A	21	38884349	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10		38884349	9245546	95	14252											
SMARCB1	6598	hgsc.bcm.edu	37	22	24175838	24175839	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr22:24175838_24175839insTT	ENST00000263121.7	+	8	1262_1263	c.1066_1067insTT	c.(1066-1068)ctgfs	p.L356fs	SMARCB1_ENST00000407422.3_Frame_Shift_Ins_p.L347fs|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000344921.6_Frame_Shift_Ins_p.L365fs|SMARCB1_ENST00000407082.3_Frame_Shift_Ins_p.L310fs	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	356					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCTGGAGACTCTGACAGACGCT	0.629			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	3	Unknown(2)|Deletion - In frame(1)	central_nervous_system(3)																																								SO:0001589	frameshift_variant	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	Exception_encountered	chr22.hg19:g.24175838_24175839insTT	ENSP00000263121:p.Leu356fs		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Frame_Shift_Ins	INS	ENST00000263121.7	hg19	CCDS13817.1																																																																																				0.629	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		TT	24175839	-	TT	24175838	7	5	233	1	0	1	1	0	0	0	0	0	14780	912	32	0	1096	0	SMARCB1	22	24175838	Frame_Shift_Ins	INS	-	TCGA-B1-A47M-01A-11D-A25F-10		24175838	27128728	96	14253											
NF2	4771	hgsc.bcm.edu	37	22	30038228	30038229	+	Missense_Mutation	DNP	CT	CT	AC			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr22:30038228_30038229CT>AC	ENST00000338641.4	+	4	842_843	c.401_402CT>AC	c.(400-402)cCT>cAC	p.P134H	NF2_ENST00000347330.5_Missense_Mutation_p.P51H|NF2_ENST00000397789.3_Missense_Mutation_p.P134H|NF2_ENST00000334961.7_Missense_Mutation_p.P51H|NF2_ENST00000361452.4_Missense_Mutation_p.P93H|NF2_ENST00000361676.4_Missense_Mutation_p.P92H|NF2_ENST00000353887.4_Missense_Mutation_p.P51H|NF2_ENST00000413209.2_Missense_Mutation_p.P134H|NF2_ENST00000403435.1_Missense_Mutation_p.P134H|NF2_ENST00000361166.4_Missense_Mutation_p.P134H|NF2_ENST00000403999.3_Missense_Mutation_p.P134H	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	134	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.V122_K149del(5)|p.?(3)|p.L127_P134del(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ATCTACTGCCCTCCTGAGGCTT	0.47			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	10	Deletion - In frame(6)|Unknown(3)|Deletion - Frameshift(1)	soft_tissue(8)|large_intestine(1)|stomach(1)																																								SO:0001583	missense	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	Exception_encountered	chr22.hg19:g.30038228_30038229delinsAC	ENSP00000344666:p.Pro134His		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation|Silent	SNP	ENST00000338641.4	hg19	CCDS13861.1																																																																																				0.47	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		AC	30038229	CT	AC	30038228	3	1	233	1	0	0	0	0	1	0	0	0	10359	681	24	4	415	4	NF2	22	30038228	Missense_Mutation	DNP	CT	TCGA-B1-A47M-01A-11D-A25F-10	5862390	30038228	21266338	97	14254											
SLC35A2	7355	hgsc.bcm.edu	37	X	48762075	48762075	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chrX:48762075G>A	ENST00000247138.5	-	4	1114	c.1111C>T	c.(1111-1113)Ccg>Tcg	p.P371S	SLC35A2_ENST00000413561.2_Missense_Mutation_p.P310S|SLC35A2_ENST00000376515.3_Missense_Mutation_p.T150I|SLC35A2_ENST00000452555.2_Missense_Mutation_p.P399S|SLC35A2_ENST00000376521.1_Missense_Mutation_p.P371S|SLC35A2_ENST00000376529.3_Missense_Mutation_p.T174I|SLC35A2_ENST00000445167.2_Missense_Mutation_p.T174I	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	371					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GACAGCTGCGGTGGTGGTGGC	0.652																																																0													40	34	36					X																	48762075		2203	4300	6503	SO:0001583	missense	7355			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"Solute carriers"	11022	protein-coding gene	gene with protein product		314375	"solute carrier family 35 (UDP-galactose transporter), member 2"	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.1111C>T	chrX.hg19:g.48762075G>A	ENSP00000247138:p.Pro371Ser		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	hg19	CCDS14311.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.494|7.494	0.651284|0.651284	0.14516|0.14516	.|.	.|.	ENSG00000102100|ENSG00000102100	ENST00000247138;ENST00000376521;ENST00000413561;ENST00000452555|ENST00000376529;ENST00000445167;ENST00000376515	T;T;T;T|.	0.42131|.	0.98;0.99;0.99;1.0|.	3.67|3.67	0.966|0.966	0.19667|0.19667	.|.	1.403590|.	0.04571|.	N|.	0.393258|.	T|T	0.16342|0.16342	0.0393|0.0393	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;D;B;B|B	0.54601|0.02656	0.003;0.0;0.967;0.002;0.001|0.0	B;B;P;B;B|B	0.62382|0.08055	0.003;0.0;0.901;0.001;0.001|0.003	T|T	0.29941|0.29941	-0.9995|-0.9995	10|8	0.32370|0.13470	T|T	0.25|0.59	-0.5438|-0.5438	3.4371|3.4371	0.07449|0.07449	0.3602:0.1976:0.4422:0.0|0.3602:0.1976:0.4422:0.0	.|.	310;399;384;371;371|174	B4DE11;E7EW45;B4DE15;P78381-2;P78381|P78381-3	.;.;.;.;S35A2_HUMAN|.	S|I	371;371;310;399|174;174;150	ENSP00000247138:P371S;ENSP00000365704:P371S;ENSP00000393233:P310S;ENSP00000416002:P399S|.	ENSP00000247138:P371S|ENSP00000365698:T150I	P|T	-|-	1|2	0|0	SLC35A2|SLC35A2	48647019|48647019	0.169000|0.169000	0.23002|0.23002	0.010000|0.010000	0.14722|0.14722	0.354000|0.354000	0.29330|0.29330	0.674000|0.674000	0.25218|0.25218	0.064000|0.064000	0.16427|0.16427	-0.881000|-0.881000	0.02953|0.02953	CCG|ACC		0.652	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		A	48762075	G	A	48762075	3	1	233	1	0	0	0	0	1	0	0	0	14577	1261	44	2	243	2	SLC35A2	23	48762075	Missense_Mutation	SNP	G	TCGA-B1-A47M-01A-11D-A25F-10		48762075	106508485	98	14255											
LPAR4	2846	hgsc.bcm.edu	37	X	78011381	78011381	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chrX:78011381C>T	ENST00000435339.3	+	2	1401	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	339					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GACTGAAACACCTTTGACCAC	0.403																																																0													151	134	140					X																	78011381		2203	4300	6503	SO:0001583	missense	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.1015C>T	chrX.hg19:g.78011381C>T	ENSP00000408205:p.Pro339Ser		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	hg19	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	8.708	0.911460	0.17833	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.70631	-0.5;-0.5	4.26	4.26	0.50523	.	0.407810	0.24314	N	0.039618	T	0.41259	0.1151	N	0.08118	0	0.38155	D	0.938872	B	0.34103	0.437	B	0.30401	0.115	T	0.50890	-0.8774	10	0.02654	T	1	.	8.4939	0.33117	0.0:0.8889:0.0:0.1111	.	339	Q99677	LPAR4_HUMAN	S	339	ENSP00000408205:P339S;ENSP00000362398:P339S	ENSP00000362398:P339S	P	+	1	0	LPAR4	77898037	0.970000	0.33590	1.000000	0.80357	0.927000	0.56198	1.463000	0.35277	1.961000	0.56991	0.422000	0.28245	CCT		0.403	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		T	78011381	C	T	78011381	3	4	233	1	0	0	0	0	1	0	0	0	8909	507	18	2	1017	2	LPAR4	23	78011381	Missense_Mutation	SNP	C	TCGA-B1-A47M-01A-11D-A25F-10	29249306	78011381	77259179	99	14256											
DOCK7	85440	hgsc.bcm.edu	37	1	63119731	63119731	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr1:63119731A>G	ENST00000340370.5	-	3	261	c.244T>C	c.(244-246)Ttt>Ctt	p.F82L	DOCK7_ENST00000251157.5_Missense_Mutation_p.F82L|DOCK7_ENST00000404627.2_Missense_Mutation_p.F82L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	82					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCTGGAGGAAATTCAATCAAA	0.428																																																0													67	66	66					1																	63119731		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.244T>C	chr1.hg19:g.63119731A>G	ENSP00000340742:p.Phe82Leu		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	hg19	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	34	5.346120	0.95807	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.63580	-0.05;-0.05;-0.05	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	M	0.84156	2.68	0.80722	D	1	P;D;P	0.56521	0.911;0.976;0.861	P;P;P	0.62382	0.895;0.901;0.73	T	0.78314	-0.2252	10	0.59425	D	0.04	.	15.1374	0.72579	1.0:0.0:0.0:0.0	.	82;82;82	Q96NI0;Q96N67-2;Q96N67-5	.;.;.	L	82	ENSP00000251157:F82L;ENSP00000340742:F82L;ENSP00000384446:F82L	ENSP00000251157:F82L	F	-	1	0	DOCK7	62892319	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.683000	0.91236	2.162000	0.67917	0.533000	0.62120	TTT		0.428	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		G	63119731	A	G	63119731	3	3	234	1	0	0	0	0	1	0	0	0	4694	101	4	3	6273	3	DOCK7	1	63119731	Missense_Mutation	SNP	A	TCGA-B1-A47N-01A-11D-A25F-10		63119731	186130890	1	14257											
HBXIP	10542	hgsc.bcm.edu	37	1	110950347	110950347	+	5'Flank	DEL	C	C	-	rs201420127		TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr1:110950347delC	ENST00000602318.1	-	0	0				LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5_ENST00000256644.4_Frame_Shift_Del_p.A48fs|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5_ENST00000474861.2_5'Flank|LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5_ENST00000483260.1_5'Flank|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											CGTAACGGCGCCTCCAAAGGG	0.617																																																0													87	74	78					1																	110950347		2203	4300	6503	SO:0001631	upstream_gene_variant	10542			AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)"	608521	"hepatitis B virus x interacting protein"	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568		chr1.hg19:g.110950347delC	Exception_encountered		Q6IBD8	Frame_Shift_Del	DEL	ENST00000602318.1	hg19																																																																																					0.617	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		-	110950347	C	-	110950347	6	5	234	0	1	1	0	1	0	0	0	0	6990	739	26	0		0	HBXIP	1	110950347	5'Flank	DEL	C	TCGA-B1-A47N-01A-11D-A25F-10	47830616	110950347	138300274	2	14258											
PLEKHO1	51177	hgsc.bcm.edu	37	1	150131515	150131515	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr1:150131515C>A	ENST00000369124.4	+	6	1305	c.1027C>A	c.(1027-1029)Ccg>Acg	p.P343T	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.P309T|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.P160T	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	343	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTCGGTCTCCGCCGGATTC	0.607																																																0													50	54	53					1																	150131515		2203	4300	6503	SO:0001583	missense	51177			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1027C>A	chr1.hg19:g.150131515C>A	ENSP00000358120:p.Pro343Thr		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	hg19	CCDS945.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880995	0.51801	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T	0.41758	0.99;0.99	5.24	5.24	0.73138	.	0.515831	0.21943	N	0.066842	T	0.13329	0.0323	N	0.14661	0.345	0.35920	D	0.831769	B	0.34103	0.437	B	0.32090	0.14	T	0.07309	-1.0779	10	0.52906	T	0.07	-17.5791	8.9859	0.35994	0.0:0.899:0.0:0.101	.	343	Q53GL0	PKHO1_HUMAN	T	160;309;343;223	ENSP00000025469:P309T;ENSP00000358120:P343T	ENSP00000025469:P309T	P	+	1	0	PLEKHO1	148398139	0.278000	0.24230	1.000000	0.80357	0.732000	0.41865	1.272000	0.33109	2.726000	0.93360	0.655000	0.94253	CCG		0.607	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		A	150131515	C	A	150131515	3	1	234	1	0	0	0	0	1	0	0	0	12086	855	30	4	1049	4	PLEKHO1	1	150131515	Missense_Mutation	SNP	C	TCGA-B1-A47N-01A-11D-A25F-10	39181168	150131515	99119106	3	14259											
C2orf61	285051	hgsc.bcm.edu	37	2	47382353	47382353	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr2:47382353A>G	ENST00000445927.2	-	1	164	c.38T>C	c.(37-39)aTa>aCa	p.I13T	RP11-761B3.1_ENST00000422269.1_Intron|C2orf61_ENST00000294947.2_Missense_Mutation_p.I13T	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	13								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTCTTCCCTTATTGAGGTGGA	0.632																																																2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											103	86	91					2																	47382353		2203	4300	6503	SO:0001583	missense	285051			AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.38T>C	chr2.hg19:g.47382353A>G	ENSP00000408527:p.Ile13Thr		H7C2Z2	Missense_Mutation	SNP	ENST00000445927.2	hg19	CCDS54356.1	.	.	.	.	.	.	.	.	.	.	A	7.690	0.690952	0.15039	.	.	ENSG00000239605	ENST00000445927;ENST00000294947	T;T	0.32988	1.43;1.44	3.27	-2.91	0.05631	.	.	.	.	.	T	0.15219	0.0367	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.27806	-1.0063	9	0.59425	D	0.04	-0.0687	0.6125	0.00764	0.3325:0.172:0.1132:0.3822	.	13	Q8N801	CB061_HUMAN	T	13	ENSP00000408527:I13T;ENSP00000294947:I13T	ENSP00000294947:I13T	I	-	2	0	C2orf61	47235857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.157000	0.16402	-0.545000	0.06224	-0.527000	0.04329	ATA		0.632	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		G	47382353	A	G	47382353	3	3	234	1	0	0	0	0	1	0	0	0	2182	449	16	3	751	3	C2orf61	2	47382353	Missense_Mutation	SNP	A	TCGA-B1-A47N-01A-11D-A25F-10		47382353	195817020	4	14260											
ZNF2	7549	hgsc.bcm.edu	37	2	95847510	95847510	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr2:95847510C>G	ENST00000340539.5	+	5	1399	c.937C>G	c.(937-939)Cct>Gct	p.P313A	ZNF2_ENST00000425369.1_Missense_Mutation_p.P233A|ZNF2_ENST00000398107.2_Missense_Mutation_p.P271A|ZNF2_ENST00000453539.2_Missense_Mutation_p.P326A|ZNF2_ENST00000295210.6_Missense_Mutation_p.P275A	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGGCAGGAAGCCTTATGAGTG	0.468																																																0													72	78	76					2																	95847510		2117	4248	6365	SO:0001583	missense	7549			X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"Zinc fingers, C2H2-type", "-"	12991	protein-coding gene	gene with protein product		194500	"zinc finger protein 2 (A1-5)"			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.937C>G	chr2.hg19:g.95847510C>G	ENSP00000345392:p.Pro313Ala		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	hg19	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197452	0.79015	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.31	5.31	0.75309	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000154	T	0.43233	0.1238	M	0.77406	2.37	0.53688	D	0.999974	D;D;D	0.76494	0.986;0.999;0.962	P;D;P	0.66847	0.766;0.947;0.514	T	0.35051	-0.9804	10	0.87932	D	0	-19.4509	16.5178	0.84305	0.0:1.0:0.0:0.0	.	275;271;312	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	A	271;313;233;275;326	ENSP00000381178:P271A;ENSP00000345392:P313A;ENSP00000406017:P233A;ENSP00000295210:P275A;ENSP00000411051:P326A	ENSP00000295210:P275A	P	+	1	0	ZNF2	95211237	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	7.297000	0.78799	2.765000	0.95021	0.655000	0.94253	CCT		0.468	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		G	95847510	C	G	95847510	3	3	234	1	0	0	0	0	1	0	0	0	17765	739	26	4	951	4	ZNF2	2	95847510	Missense_Mutation	SNP	C	TCGA-B1-A47N-01A-11D-A25F-10	48465157	95847510	147351863	5	14261											
HOXD8	3234	hgsc.bcm.edu	37	2	176996164	176996165	+	Frame_Shift_Ins	INS	-	-	CCCTAGCCCT			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr2:176996164_176996165insCCCTAGCCCT	ENST00000313173.4	+	2	1324_1325	c.697_698insCCCTAGCCCT	c.(697-699)gccfs	p.-236fs	HOXD8_ENST00000429017.1_Frame_Shift_Ins_p.-52fs|HOXD8_ENST00000544999.1_Frame_Shift_Ins_p.-235fs|HOXD8_ENST00000450510.2_Frame_Shift_Ins_p.-235fs|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Frame_Shift_Ins_p.-132fs	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8						anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GGTTTCCCACGCCCTAGCCCTC	0.446																																																0																																										SO:0001589	frameshift_variant	3234				CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"Homeoboxes / ANTP class : HOXL subclass"	5139	protein-coding gene	gene with protein product		142985	"homeo box D8"	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.698_707dupCCCTAGCCCT	chr2.hg19:g.176996165_176996174dupCCCTAGCCCT	ENSP00000315949:p.Leu236fs		F8WBG7|Q5BL00|Q8IXZ1	Frame_Shift_Ins	INS	ENST00000313173.4	hg19	CCDS2268.1																																																																																				0.446	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			CCCTAGCCCT	176996165	-	CCCTAGCCCT	176996164	7	5	234	1	0	1	1	0	0	0	0	0	7327	1087	38	0	703	0	HOXD8	2	176996164	Frame_Shift_Ins	INS	-	TCGA-B1-A47N-01A-11D-A25F-10	81148654	176996164	66203209	6	14262											
PGAP1	80055	hgsc.bcm.edu	37	2	197750195	197750195	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr2:197750195G>T	ENST00000354764.4	-	12	1339	c.1225C>A	c.(1225-1227)Caa>Aaa	p.Q409K	PGAP1_ENST00000409188.1_3'UTR|PGAP1_ENST00000409475.1_Missense_Mutation_p.Q409K	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	409					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCAACCCCTTGCAGGCTTTGA	0.284																																																0													52	59	57					2																	197750195		2191	4286	6477	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1225C>A	chr2.hg19:g.197750195G>T	ENSP00000346809:p.Gln409Lys		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	hg19	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425404	0.43020	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	5.26	5.26	0.73747	.	0.261976	0.38778	N	0.001561	T	0.56630	0.1998	N	0.24115	0.695	0.80722	D	1	B;P	0.49447	0.228;0.924	B;P	0.62298	0.083;0.9	T	0.46373	-0.9196	9	0.06891	T	0.86	-10.914	14.225	0.65853	0.0:0.0:1.0:0.0	.	409;409	Q75T13-3;Q75T13	.;PGAP1_HUMAN	K	189;409;409	.	ENSP00000346809:Q409K	Q	-	1	0	PGAP1	197458440	0.997000	0.39634	0.967000	0.41034	0.825000	0.46686	3.380000	0.52448	2.732000	0.93576	0.591000	0.81541	CAA		0.284	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		T	197750195	G	T	197750195	3	4	234	1	0	0	0	0	1	0	0	0	11779	1328	46	4	1607	4	PGAP1	2	197750195	Missense_Mutation	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10	20754031	197750195	45449178	7	14263											
TPRG1	285386	hgsc.bcm.edu	37	3	188925189	188925189	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr3:188925189A>G	ENST00000345063.3	+	2	183	c.16A>G	c.(16-18)Agt>Ggt	p.S6G	TPRG1_ENST00000433971.1_Missense_Mutation_p.S6G	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	6						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AACAATTGGGAGTTTTGAAGG	0.458																																																0													97	95	96					3																	188925189		2203	4300	6503	SO:0001583	missense	285386			AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"family with sequence similarity 79, member B"	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.16A>G	chr3.hg19:g.188925189A>G	ENSP00000341031:p.Ser6Gly			Missense_Mutation	SNP	ENST00000345063.3	hg19	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678779	0.47886	.	.	ENSG00000188001	ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832	.	.	.	5.83	5.83	0.93111	.	0.488214	0.25631	N	0.029360	T	0.39410	0.1077	L	0.34521	1.04	0.31374	N	0.679799	B	0.26363	0.147	B	0.29077	0.098	T	0.48681	-0.9014	9	0.45353	T	0.12	-5.1687	12.5927	0.56451	1.0:0.0:0.0:0.0	.	6	Q6ZUI0	TPRG1_HUMAN	G	6	.	ENSP00000341031:S6G	S	+	1	0	TPRG1	190407883	1.000000	0.71417	0.982000	0.44146	0.737000	0.42083	2.764000	0.47613	2.235000	0.73313	0.533000	0.62120	AGT		0.458	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		G	188925189	A	G	188925189	3	3	234	1	0	0	0	0	1	0	0	0	16423	304	11	3	18	3	TPRG1	3	188925189	Missense_Mutation	SNP	A	TCGA-B1-A47N-01A-11D-A25F-10		188925189	9097241	8	14264											
MUC4	4585	hgsc.bcm.edu	37	3	195490958	195490958	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr3:195490958G>A	ENST00000346145.4	-	10	1333	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	MUC4_ENST00000349607.4_Missense_Mutation_p.R381W|MUC4_ENST00000475231.1_Missense_Mutation_p.R4616W|MUC4_ENST00000463781.3_Missense_Mutation_p.R4668W	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1425					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACGTGGGGCCGCCTCTGCTGG	0.662																																																0													18	16	16					3																	195490958		2200	4299	6499	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1294C>T	chr3.hg19:g.195490958G>A	ENSP00000304207:p.Arg432Trp		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	hg19	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	9.013	0.982982	0.18889	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231	T;T;T;T	0.78126	-1.15;-0.44;-0.46;-0.33	5.25	-4.79	0.03200	AMOP (2);	0.750787	0.11391	N	0.568766	T	0.73814	0.3635	M	0.76002	2.32	0.25565	N	0.986958	P;P;P;P;B;B;D	0.53619	0.469;0.922;0.779;0.91;0.027;0.027;0.961	B;P;B;B;B;B;P	0.49451	0.107;0.611;0.199;0.303;0.019;0.019;0.466	T	0.65553	-0.6140	10	0.87932	D	0	-4.1234	1.1024	0.01687	0.3996:0.1018:0.1745:0.324	.	4540;1425;381;432;4668;4616;1373	E7ESK3;Q99102;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;MUC4_HUMAN;.;.;.;.;.	W	381;432;4668;4616	ENSP00000338109:R381W;ENSP00000304207:R432W;ENSP00000417498:R4668W;ENSP00000420243:R4616W	ENSP00000304207:R432W	R	-	1	2	MUC4	196976629	0.021000	0.18746	0.104000	0.21259	0.021000	0.10359	-0.327000	0.07955	-0.553000	0.06158	-0.187000	0.12897	CGG		0.662	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		A	195490958	G	A	195490958	3	1	234	1	0	0	0	0	1	0	0	0	9980	1086	38	1	2296	1	MUC4	3	195490958	Missense_Mutation	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10	6565769	195490958	2531472	9	14265											
UBA6	55236	hgsc.bcm.edu	37	4	68534339	68534339	+	Silent	SNP	T	T	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr4:68534339T>C	ENST00000322244.5	-	9	782	c.723A>G	c.(721-723)acA>acG	p.T241T	UBA6_ENST00000420827.2_Silent_p.T241T	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	241					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GGAATTGTCCTGTCTCCAGTT	0.303																																																0													123	120	121					4																	68534339		2203	4300	6503	SO:0001819	synonymous_variant	55236			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.723A>G	chr4.hg19:g.68534339T>C			A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	hg19	CCDS3516.1																																																																																				0.303	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		C	68534339	T	C	68534339	2	2	234	1	0	0	0	0	0	0	0	1	16837	1567	55	3		3	UBA6	4	68534339	Silent	SNP	T	TCGA-B1-A47N-01A-11D-A25F-10		68534339	122619937	10	14266											
ACCN5	51802	hgsc.bcm.edu	37	4	156784757	156784757	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr4:156784757G>A	ENST00000537611.2	-	2	236	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	64					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										ACCAACCAGAGCACCCTGCGA	0.483																																																0													131	116	121					4																	156784757		2203	4300	6503	SO:0001583	missense	51802			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.190C>T	chr4.hg19:g.156784757G>A	ENSP00000442477:p.Leu64Phe			Missense_Mutation	SNP	ENST00000537611.2	hg19	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	6.118	0.390031	0.11581	.	.	ENSG00000256394	ENST00000537611	T	0.65732	-0.17	4.24	1.65	0.23941	.	0.825563	0.10479	N	0.669867	T	0.38878	0.1057	N	0.11651	0.15	0.58432	D	0.999998	B	0.10296	0.003	B	0.17979	0.02	T	0.26744	-1.0094	10	0.02654	T	1	-0.483	12.6071	0.56529	0.0:0.0:0.5103:0.4896	.	64	Q9NY37	ACCN5_HUMAN	F	64	ENSP00000442477:L64F	ENSP00000264432:L64F	L	-	1	0	ACCN5	157004207	0.075000	0.21258	0.386000	0.26170	0.148000	0.21650	0.106000	0.15354	0.224000	0.20940	-0.271000	0.10264	CTC		0.483	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			A	156784757	G	A	156784757	3	1	234	1	0	0	0	0	1	0	0	0	132	971	34	2	1363	2	ACCN5	4	156784757	Missense_Mutation	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10	88250418	156784757	34369519	11	14267											
BTN2A2	10385	hgsc.bcm.edu	37	6	26384118	26384118	+	Silent	SNP	T	T	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr6:26384118T>C	ENST00000356709.4	+	2	180	c.69T>C	c.(67-69)ctT>ctC	p.L23L	BTN2A2_ENST00000482536.1_Silent_p.L23L|BTN2A2_ENST00000469230.1_Silent_p.L23L|BTN2A2_ENST00000416795.2_Silent_p.L23L|BTN2A2_ENST00000432533.2_Silent_p.L23L|BTN2A2_ENST00000352867.2_Silent_p.L23L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	23					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						tcctcctccttctcAGCCTGT	0.577																																																0													151	111	124					6																	26384118		2203	4300	6503	SO:0001819	synonymous_variant	10385			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.69T>C	chr6.hg19:g.26384118T>C			A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Silent	SNP	ENST00000356709.4	hg19	CCDS4606.1																																																																																				0.577	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			C	26384118	T	C	26384118	2	2	234	1	0	0	0	0	0	0	0	1	1563	1770	62	3		3	BTN2A2	6	26384118	Silent	SNP	T	TCGA-B1-A47N-01A-11D-A25F-10		26384118	144730949	12	14268											
SYNGAP1	8831	hgsc.bcm.edu	37	6	33400480	33400480	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr6:33400480C>T	ENST00000418600.2	+	5	507	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R77W|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R136W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	136					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCTGAGCCGACGGCTAAAAAG	0.577																																																0													56	49	51					6																	33400480		2203	4300	6503	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.406C>T	chr6.hg19:g.33400480C>T	ENSP00000403636:p.Arg136Trp		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	hg19	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792591	0.50102	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.28666	1.6;1.71;1.77	4.06	-1.15	0.09709	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	M	0.69358	2.11	0.58432	D	0.999996	D;D;D	0.71674	0.965;0.98;0.998	B;P;P	0.62382	0.416;0.621;0.901	T	0.43065	-0.9414	10	0.87932	D	0	.	11.9927	0.53184	0.6778:0.3221:0.0:0.0	.	136;136;136	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	W	136;136;136;77	ENSP00000293748:R136W;ENSP00000403636:R136W;ENSP00000412475:R77W	ENSP00000293748:R136W	R	+	1	2	SYNGAP1	33508458	0.994000	0.37717	0.996000	0.52242	0.938000	0.57974	1.265000	0.33027	0.002000	0.14630	0.467000	0.42956	CGG		0.577	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		T	33400480	C	T	33400480	3	4	234	1	0	0	0	0	1	0	0	0	15452	527	19	1	424	1	SYNGAP1	6	33400480	Missense_Mutation	SNP	C	TCGA-B1-A47N-01A-11D-A25F-10	7016362	33400480	137714587	13	14269											
LPA	4018	hgsc.bcm.edu	37	6	161026202	161026202	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr6:161026202A>G	ENST00000316300.5	-	18	2865	c.2821T>C	c.(2821-2823)Tac>Cac	p.Y941H	LPA_ENST00000447678.1_Missense_Mutation_p.Y941H			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3449	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTTCCGTGGTAGCACTCCTGC	0.458																																																0													269	278	275					6																	161026202		2200	4298	6498	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2821T>C	chr6.hg19:g.161026202A>G	ENSP00000321334:p.Tyr941His		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	hg19	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	a	10.16	1.275243	0.23307	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.65364	-0.15;-0.15	2.16	2.16	0.27623	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.72087	0.3417	H	0.95816	3.725	0.21782	N	0.999546	D	0.60160	0.987	D	0.70227	0.968	T	0.61004	-0.7150	9	0.26408	T	0.33	.	6.2159	0.20656	1.0:0.0:0.0:0.0	.	3449	P08519	APOA_HUMAN	H	941	ENSP00000321334:Y941H;ENSP00000395608:Y941H	ENSP00000321334:Y941H	Y	-	1	0	LPA	160946192	0.988000	0.35896	0.913000	0.36048	0.097000	0.18754	2.967000	0.49216	0.999000	0.39023	0.155000	0.16302	TAC		0.458	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		G	161026202	A	G	161026202	3	3	234	1	0	0	0	0	1	0	0	0	8905	420	15	3	3389	3	LPA	6	161026202	Missense_Mutation	SNP	A	TCGA-B1-A47N-01A-11D-A25F-10	127625722	161026202	10088865	14	14270											
TAX1BP1	8887	hgsc.bcm.edu	37	7	27856559	27856559	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr7:27856559A>T	ENST00000396319.2	+	15	2075	c.1987A>T	c.(1987-1989)Aga>Tga	p.R663*	TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.R621*|TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.R621*|TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.R464*|TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.R687*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	663					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GCCACCTGTCAGAGTCCCCTC	0.453																																																0													63	65	65					7																	27856559		2203	4300	6503	SO:0001587	stop_gained	8887			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1987A>T	chr7.hg19:g.27856559A>T	ENSP00000379612:p.Arg663*		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Nonsense_Mutation	SNP	ENST00000396319.2	hg19	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886755	0.91814	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	.	.	.	5.67	4.5	0.54988	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-17.6197	12.6545	0.56780	0.857:0.143:0.0:0.0	.	.	.	.	X	621;621;687;464;663;200	.	ENSP00000265393:R621X	R	+	1	2	TAX1BP1	27823084	1.000000	0.71417	0.999000	0.59377	0.808000	0.45660	2.947000	0.49058	0.975000	0.38392	0.533000	0.62120	AGA		0.453	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		T	27856559	A	T	27856559	4	4	234	1	0	0	0	0	0	1	0	0	15599	180	7	5	2041	5	TAX1BP1	7	27856559	Nonsense_Mutation	SNP	A	TCGA-B1-A47N-01A-11D-A25F-10		27856559	131282104	15	14271											
NFX1	4799	hgsc.bcm.edu	37	9	33319097	33319097	+	Silent	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr9:33319097C>T	ENST00000379540.3	+	9	1940	c.1878C>T	c.(1876-1878)tgC>tgT	p.C626C	NFX1_ENST00000379521.4_Silent_p.C626C|NFX1_ENST00000318524.6_Silent_p.C626C	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	626					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GAAAAGTGTGCGGCAAGCCTC	0.453																																																0													70	70	70					9																	33319097		2203	4300	6503	SO:0001819	synonymous_variant	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1878C>T	chr9.hg19:g.33319097C>T			A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Silent	SNP	ENST00000379540.3	hg19	CCDS6538.1																																																																																				0.453	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			T	33319097	C	T	33319097	2	4	234	1	0	0	0	0	0	0	0	1	10389	776	27	1		1	NFX1	9	33319097	Silent	SNP	C	TCGA-B1-A47N-01A-11D-A25F-10		33319097	107894334	16	14272											
LAMC3	10319	hgsc.bcm.edu	37	9	133948708	133948708	+	Splice_Site	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr9:133948708G>A	ENST00000361069.4	+	20	3627	c.3494G>A	c.(3493-3495)aGc>aAc	p.S1165N	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1165	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCGCCAGGAGGTGAGTCCCA	0.607																																																0													46	46	46					9																	133948708		2203	4300	6503	SO:0001630	splice_region_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3494+1G>A	chr9.hg19:g.133948708G>A			B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	hg19	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450700	0.26074	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.29655	1.56	4.23	4.23	0.50019	.	0.177619	0.64402	D	0.000012	T	0.34221	0.0890	M	0.68317	2.08	0.39455	D	0.967477	P	0.36789	0.57	B	0.40038	0.317	T	0.15093	-1.0449	10	0.17832	T	0.49	.	14.3309	0.66556	0.0:0.0:1.0:0.0	.	1165	Q9Y6N6	LAMC3_HUMAN	N	1165	ENSP00000354360:S1165N	ENSP00000347156:S1165N	S	+	2	0	LAMC3	132938529	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.044000	0.71012	2.365000	0.80145	0.555000	0.69702	AGC		0.607	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	Missense_Mutation	A	133948708	G	A	133948708	5	1	234	1	0	0	0	0	0	0	1	0	8618	1014	35	2	3572	2	LAMC3	9	133948708	Splice_Site	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10	100629611	133948708	7264723	17	14273											
ARHGAP21	57584	hgsc.bcm.edu	37	10	24873803	24873803	+	Silent	SNP	T	T	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr10:24873803T>C	ENST00000396432.2	-	26	5901	c.5415A>G	c.(5413-5415)ggA>ggG	p.G1805G		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1804	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTCTGTGCCCTCCTAGTGTAT	0.488																																																0													50	50	50					10																	24873803		2203	4300	6503	SO:0001819	synonymous_variant	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5415A>G	chr10.hg19:g.24873803T>C			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	hg19	CCDS7144.2																																																																																				0.488	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		C	24873803	T	C	24873803	2	2	234	1	0	0	0	0	0	0	0	1	871	1538	54	3		3	ARHGAP21	10	24873803	Silent	SNP	T	TCGA-B1-A47N-01A-11D-A25F-10		24873803	110660944	18	14274											
ARHGAP1	392	hgsc.bcm.edu	37	11	46702650	46702650	+	Silent	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr11:46702650G>A	ENST00000311956.4	-	7	643	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	182	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TCTTCTGCCCGAACTTGAAGC	0.602																																																0													84	90	88					11																	46702650		2201	4299	6500	SO:0001819	synonymous_variant	392			BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"Rho GTPase activating proteins"	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.546C>T	chr11.hg19:g.46702650G>A			D3DQQ6	Silent	SNP	ENST00000311956.4	hg19	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	G	9.301	1.052993	0.19907	.	.	ENSG00000175220	ENST00000528837	.	.	.	5.28	1.37	0.22104	.	.	.	.	.	T	0.57770	0.2076	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51356	-0.8716	4	.	.	.	.	9.3727	0.38264	0.7873:0.0:0.2127:0.0	.	.	.	.	W	136	.	.	R	-	1	2	ARHGAP1	46659226	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.205000	0.32308	0.323000	0.23307	-0.459000	0.05422	CGG		0.602	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		A	46702650	G	A	46702650	2	1	234	1	0	0	0	0	0	0	0	1	861	1049	37	1		1	ARHGAP1	11	46702650	Silent	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10		46702650	88303866	19	14275											
AHNAK	79026	hgsc.bcm.edu	37	11	62296065	62296065	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr11:62296065C>T	ENST00000378024.4	-	5	6098	c.5824G>A	c.(5824-5826)Gtg>Atg	p.V1942M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1942					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCACCGACACATCCACATCC	0.502																																																0													216	226	223					11																	62296065		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5824G>A	chr11.hg19:g.62296065C>T	ENSP00000367263:p.Val1942Met		A1A586	Missense_Mutation	SNP	ENST00000378024.4	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	6.228	0.410192	0.11812	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01272	5.07	2.29	1.33	0.21861	.	.	.	.	.	T	0.03608	0.0103	M	0.88105	2.93	0.27412	N	0.95455	P	0.41131	0.739	B	0.40602	0.334	T	0.14643	-1.0465	9	0.66056	D	0.02	.	7.0623	0.25133	0.0:0.8577:0.0:0.1423	.	1942	Q09666	AHNK_HUMAN	M	31;1942	ENSP00000367263:V1942M	ENSP00000244934:V31M	V	-	1	0	AHNAK	62052641	0.700000	0.27796	0.013000	0.15412	0.006000	0.05464	-0.172000	0.09868	0.317000	0.23160	0.186000	0.17326	GTG		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62296065	C	T	62296065	3	4	234	1	0	0	0	0	1	0	0	0	414	478	17	2	11968	2	AHNAK	11	62296065	Missense_Mutation	SNP	C	TCGA-B1-A47N-01A-11D-A25F-10	15593415	62296065	72710451	20	14276											
PC	5091	hgsc.bcm.edu	37	11	66636384	66636384	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr11:66636384T>C	ENST00000393958.2	-	9	1048	c.955A>G	c.(955-957)Aag>Gag	p.K319E	PC_ENST00000393955.2_Missense_Mutation_p.K319E|PC_ENST00000524491.1_Missense_Mutation_p.K279E|PC_ENST00000393960.1_Missense_Mutation_p.K319E|PC_ENST00000355677.3_Missense_Mutation_p.K319E	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	319	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AAGTAGTGCTTGCCGTGCCTG	0.687																																																0													92	81	84					11																	66636384		2200	4295	6495	SO:0001583	missense	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.955A>G	chr11.hg19:g.66636384T>C	ENSP00000377530:p.Lys319Glu		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	hg19	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333430	0.41297	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31;-4.31	4.65	4.65	0.58169	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.063886	0.64402	D	0.000015	D	0.91643	0.7359	N	0.13352	0.335	0.43226	D	0.995117	B	0.09022	0.002	B	0.21360	0.034	D	0.87584	0.2486	10	0.13108	T	0.6	-19.2405	12.029	0.53388	0.0:0.0:0.0:1.0	.	319	P11498	PYC_HUMAN	E	319;319;319;279;319	ENSP00000377527:K319E;ENSP00000377530:K319E;ENSP00000377532:K319E;ENSP00000434192:K279E;ENSP00000347900:K319E	ENSP00000347900:K319E	K	-	1	0	PC	66392960	0.994000	0.37717	1.000000	0.80357	0.938000	0.57974	1.707000	0.37888	1.730000	0.51580	0.459000	0.35465	AAG		0.687	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		C	66636384	T	C	66636384	3	2	234	1	0	0	0	0	1	0	0	0	11499	1821	63	3	2637	3	PC	11	66636384	Missense_Mutation	SNP	T	TCGA-B1-A47N-01A-11D-A25F-10	4340319	66636384	68370132	21	14277											
MAML2	84441	hgsc.bcm.edu	37	11	95825248	95825248	+	Silent	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr11:95825248C>T	ENST00000524717.1	-	2	3231	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	649					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gttgctgctgctgctgctgtt	0.517			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													33	39	37					11																	95825248		2115	4166	6281	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1947G>A	chr11.hg19:g.95825248C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	hg19	CCDS44714.1																																																																																				0.517	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825248	C	T	95825248	2	4	234	1	0	0	0	0	0	0	0	1	9208	796	28	2		2	MAML2	11	95825248	Silent	SNP	C	TCGA-B1-A47N-01A-11D-A25F-10	29188864	95825248	39181268	22	14278	111	2									
MAML2	84441	hgsc.bcm.edu	37	11	95825254	95825254	+	Silent	SNP	C	C	T	rs61749250		TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr11:95825254C>T	ENST00000524717.1	-	2	3225	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	647					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q647Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgttgttgct	0.512			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)						C		0,4198		0,0,2099	35	40	38		1941	1.7	0.1	11	dbSNP_129	38	5,8237		0,5,4116	no	coding-synonymous	MAML2	NM_032427.1		0,5,6215	TT,TC,CC		0.0607,0.0,0.0402		647/1157	95825254	5,12435	2099	4121	6220	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1941G>A	chr11.hg19:g.95825254C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	hg19	CCDS44714.1																																																																																				0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825254	C	T	95825254	2	4	234	1	0	0	0	0	0	0	0	1	9208	796	28	2		2	MAML2	11	95825254	Silent	SNP	C	TCGA-B1-A47N-01A-11D-A25F-10	6	95825254	39181262	23	14279	111	2									
SLC6A12	6539	hgsc.bcm.edu	37	12	306024	306024	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr12:306024A>G	ENST00000428720.1	-	11	1843	c.1100T>C	c.(1099-1101)tTc>tCc	p.F367S	SLC6A12_ENST00000538272.1_5'Flank|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000536824.1_Missense_Mutation_p.F367S|SLC6A12_ENST00000424061.2_Missense_Mutation_p.F367S|SLC6A12_ENST00000359674.4_Missense_Mutation_p.F367S|SLC6A12_ENST00000397296.2_Missense_Mutation_p.F367S	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	367					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGCCTTGGGGAAGGCGATGAA	0.587																																																0													107	96	100					12																	306024		2203	4300	6503	SO:0001583	missense	6539			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1100T>C	chr12.hg19:g.306024A>G	ENSP00000388184:p.Phe367Ser		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	hg19	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780522	0.70222	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	4.26	4.26	0.50523	.	0.067703	0.64402	D	0.000013	D	0.86644	0.5982	M	0.85777	2.775	0.44261	D	0.997113	D	0.58268	0.982	D	0.70935	0.971	D	0.87360	0.2343	10	0.87932	D	0	.	7.5395	0.27729	0.6532:0.0:0.0:0.3468	.	367	P48065	S6A12_HUMAN	S	367	ENSP00000352702:F367S;ENSP00000380464:F367S;ENSP00000388184:F367S;ENSP00000399136:F367S;ENSP00000444268:F367S	ENSP00000352702:F367S	F	-	2	0	SLC6A12	176285	1.000000	0.71417	0.987000	0.45799	0.802000	0.45316	6.483000	0.73617	1.782000	0.52362	0.391000	0.25812	TTC		0.587	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		G	306024	A	G	306024	3	3	234	1	0	0	0	0	1	0	0	0	14681	246	9	3	768	3	SLC6A12	12	306024	Missense_Mutation	SNP	A	TCGA-B1-A47N-01A-11D-A25F-10		306024	133545871	24	14280											
GALNT9	50614	hgsc.bcm.edu	37	12	132834320	132834320	+	Silent	SNP	G	G	A	rs554022886		TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr12:132834320G>A	ENST00000328957.8	-	5	866	c.867C>T	c.(865-867)aaC>aaT	p.N289N	GALNT9_ENST00000535208.1_5'Flank|GALNT9_ENST00000535228.1_5'Flank	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	289					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CATGGGCGGCGTTCGCATACT	0.632													g|||	1	0.000199681	0.0008	0.0	5008	,	,		12187	0.0		0.0	False		,,,				2504	0.0				Colon(186;2147 2752 13553 41466)											0													27	32	30					12																	132834320		692	1591	2283	SO:0001819	synonymous_variant	50614			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.867C>T	chr12.hg19:g.132834320G>A			Q52LR8|Q6NT54|Q8NFR1	Silent	SNP	ENST00000328957.8	hg19																																																																																					0.632	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		A	132834320	G	A	132834320	2	1	234	1	0	0	0	0	0	0	0	1	6222	1136	40	1		1	GALNT9	12	132834320	Silent	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10	132528296	132834320	1017575	25	14281											
GPR12	2835	hgsc.bcm.edu	37	13	27332981	27332981	+	Silent	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr13:27332981C>T	ENST00000381436.2	-	1	1446	c.984G>A	c.(982-984)gcG>gcA	p.A328A	GPR12_ENST00000405846.3_Silent_p.A328A			P47775	GPR12_HUMAN	G protein-coupled receptor 12	328					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGGGCGAGCGCGCTCTCTGGG	0.537																																																0													65	67	66					13																	27332981		2203	4300	6503	SO:0001819	synonymous_variant	2835			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.984G>A	chr13.hg19:g.27332981C>T			Q5T8P3	Silent	SNP	ENST00000381436.2	hg19	CCDS9319.1																																																																																				0.537	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			T	27332981	C	T	27332981	2	4	234	1	0	0	0	0	0	0	0	1	6637	755	27	1		1	GPR12	13	27332981	Silent	SNP	C	TCGA-B1-A47N-01A-11D-A25F-10		27332981	87836897	26	14282											
FRY	10129	hgsc.bcm.edu	37	13	32823745	32823745	+	Missense_Mutation	SNP	G	G	T	rs372186855		TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr13:32823745G>T	ENST00000380250.3	+	49	7587	c.7091G>T	c.(7090-7092)cGg>cTg	p.R2364L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2364						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCCGTCACCCGGAGCACATCT	0.542																																																0													73	76	75					13																	32823745		2015	4173	6188	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7091G>T	chr13.hg19:g.32823745G>T	ENSP00000369600:p.Arg2364Leu		Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453660	0.96223	.	.	ENSG00000073910	ENST00000380250;ENST00000380257;ENST00000380235	T	0.25085	1.82	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.54323	1.7	0.80722	D	1	P	0.46784	0.884	B	0.42214	0.38	T	0.02821	-1.1106	10	0.54805	T	0.06	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	2364	Q5TBA9	FRY_HUMAN	L	2364;1174;5	ENSP00000369600:R2364L	ENSP00000369567:R5L	R	+	2	0	FRY	31721745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CGG		0.542	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		T	32823745	G	T	32823745	3	4	234	1	0	0	0	0	1	0	0	0	6065	1116	39	4	7285	4	FRY	13	32823745	Missense_Mutation	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10	5490764	32823745	82346133	27	14283											
PRPF39	55015	hgsc.bcm.edu	37	14	45564665	45564665	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr14:45564665G>A	ENST00000355765.6	+	2	393	c.223G>A	c.(223-225)Gca>Aca	p.A75T		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	75					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						AGAAACAGAAGCAAATTTCCC	0.403																																																0													46	47	46					14																	45564665		2031	4212	6243	SO:0001583	missense	55015			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.223G>A	chr14.hg19:g.45564665G>A	ENSP00000348010:p.Ala75Thr		Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	hg19	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927796	0.34002	.	.	ENSG00000185246	ENST00000355765;ENST00000553605	T	0.46819	0.86	5.72	4.83	0.62350	.	.	.	.	.	T	0.32675	0.0837	N	0.20986	0.625	0.26211	N	0.979309	B	0.19817	0.039	B	0.23018	0.043	T	0.20538	-1.0272	9	0.15499	T	0.54	-21.2955	10.525	0.44943	0.1491:0.0:0.8509:0.0	.	75	Q86UA1	PRP39_HUMAN	T	75	ENSP00000348010:A75T	ENSP00000348010:A75T	A	+	1	0	PRPF39	44634415	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.367000	0.52350	1.429000	0.47314	0.591000	0.81541	GCA		0.403	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			A	45564665	G	A	45564665	3	1	234	1	0	0	0	0	1	0	0	0	12574	971	34	2	225	2	PRPF39	14	45564665	Missense_Mutation	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10		45564665	61784875	28	14284											
SIN3A	25942	hgsc.bcm.edu	37	15	75673957	75673957	+	Silent	SNP	T	T	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr15:75673957T>A	ENST00000394947.3	-	18	3599	c.3285A>T	c.(3283-3285)gcA>gcT	p.A1095A	SIN3A_ENST00000360439.4_Silent_p.A1095A|SIN3A_ENST00000394949.4_Silent_p.A1095A	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCATACCTCTGCTTCCACAG	0.527																																																0													227	191	203					15																	75673957		2197	4294	6491	SO:0001819	synonymous_variant	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3285A>T	chr15.hg19:g.75673957T>A				Silent	SNP	ENST00000394947.3	hg19	CCDS10279.1																																																																																				0.527	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		A	75673957	T	A	75673957	2	1	234	1	0	0	0	0	0	0	0	1	14331	1567	55	5		5	SIN3A	15	75673957	Silent	SNP	T	TCGA-B1-A47N-01A-11D-A25F-10		75673957	26857435	29	14285			1	22		2	2	26	T		2.987995e-05
SIN3A	25942	hgsc.bcm.edu	37	15	75673982	75673982	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr15:75673982T>A	ENST00000394947.3	-	18	3574	c.3260A>T	c.(3259-3261)gAg>gTg	p.E1087V	SIN3A_ENST00000360439.4_Missense_Mutation_p.E1087V|SIN3A_ENST00000394949.4_Missense_Mutation_p.E1087V	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATCCGAATTCTCCTCTTCTGT	0.502																																																0													219	188	199					15																	75673982		2197	4294	6491	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3260A>T	chr15.hg19:g.75673982T>A	ENSP00000378402:p.Glu1087Val			Missense_Mutation	SNP	ENST00000394947.3	hg19	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186474	0.78789	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47528	0.84;0.84;0.84	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	L	0.61387	1.9	0.80722	D	1	B	0.28998	0.23	B	0.30716	0.119	T	0.41215	-0.9521	10	0.30078	T	0.28	-25.6466	14.6847	0.69042	0.0:0.0:0.0:1.0	.	1087	Q96ST3	SIN3A_HUMAN	V	1087	ENSP00000378402:E1087V;ENSP00000378403:E1087V;ENSP00000353622:E1087V	ENSP00000353622:E1087V	E	-	2	0	SIN3A	73461035	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.939000	0.87685	2.073000	0.62155	0.402000	0.26972	GAG		0.502	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		A	75673982	T	A	75673982	3	1	234	1	0	0	0	0	1	0	0	0	14331	1551	54	5	577	5	SIN3A	15	75673982	Missense_Mutation	SNP	T	TCGA-B1-A47N-01A-11D-A25F-10	25	75673982	26857410	30	14286			1	22		2	2	26	T		2.987995e-05
FA2H	79152	hgsc.bcm.edu	37	16	74750468	74750468	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr16:74750468G>C	ENST00000219368.3	-	6	885	c.816C>G	c.(814-816)ttC>ttG	p.F272L	FA2H_ENST00000544337.1_Missense_Mutation_p.F59L	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	272					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GCACAGGGGGGAAGACCAGGC	0.677																																																0													16	15	15					16																	74750468		2194	4297	6491	SO:0001583	missense	79152			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.816C>G	chr16.hg19:g.74750468G>C	ENSP00000219368:p.Phe272Leu		B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	ENST00000219368.3	hg19	CCDS10911.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.426263	0.83667	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.83506	-1.73;-1.73	5.07	3.07	0.35406	Fatty acid hydroxylase (1);	0.000000	0.85682	D	0.000000	D	0.89203	0.6648	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87214	0.2249	10	0.40728	T	0.16	0.1308	11.6853	0.51483	0.1462:0.0:0.8538:0.0	.	272;180	Q7L5A8;B2RDE6	FA2H_HUMAN;.	L	272;59	ENSP00000219368:F272L;ENSP00000442334:F59L	ENSP00000219368:F272L	F	-	3	2	FA2H	73307969	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	2.233000	0.43027	0.524000	0.28502	0.651000	0.88453	TTC		0.677	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		C	74750468	G	C	74750468	3	2	234	1	0	0	0	0	1	0	0	0	5354	1165	41	4	310	4	FA2H	16	74750468	Missense_Mutation	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10		74750468	15604285	31	14287											
WDR81	124997	hgsc.bcm.edu	37	17	1630052	1630052	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr17:1630052C>T	ENST00000409644.1	+	1	1799	c.1799C>T	c.(1798-1800)cCc>cTc	p.P600L	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	600	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCTTGCCCCCGAGCCTCCC	0.657																																																0													14	18	17					17																	1630052		692	1589	2281	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1799C>T	chr17.hg19:g.1630052C>T	ENSP00000386609:p.Pro600Leu		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	hg19	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	5.306	0.241738	0.10077	.	.	ENSG00000167716	ENST00000409644	T	0.51574	0.7	5.43	5.43	0.79202	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12528	-1.0544	6	0.09590	T	0.72	.	12.5648	0.56304	0.0:0.9236:0.0:0.0764	.	.	.	.	L	600	ENSP00000386609:P600L	ENSP00000386609:P600L	P	+	2	0	WDR81	1576802	0.524000	0.26282	0.970000	0.41538	0.006000	0.05464	4.407000	0.59754	2.546000	0.85860	0.462000	0.41574	CCC		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		T	1630052	C	T	1630052	3	4	234	1	0	0	0	0	1	0	0	0	17335	623	22	2	1863	2	WDR81	17	1630052	Missense_Mutation	SNP	C	TCGA-B1-A47N-01A-11D-A25F-10		1630052	79565158	32	14288											
MYBBP1A	10514	hgsc.bcm.edu	37	17	4445767	4445767	+	Missense_Mutation	SNP	G	G	T	rs200492249	byFrequency	TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr17:4445767G>T	ENST00000254718.4	-	22	3385	c.3079C>A	c.(3079-3081)Cgt>Agt	p.R1027S	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1027S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1027					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACCTGATGACGGGGCCGCACC	0.627																																																0													69	80	76					17																	4445767		2203	4300	6503	SO:0001583	missense	10514			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3079C>A	chr17.hg19:g.4445767G>T	ENSP00000254718:p.Arg1027Ser		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	hg19	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195223	0.38806	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.67698	-0.28;-0.28	5.3	4.12	0.48240	Armadillo-type fold (1);	0.258408	0.43579	D	0.000546	T	0.68568	0.3015	M	0.65975	2.015	0.30663	N	0.754172	P;P	0.48407	0.854;0.91	B;P	0.49683	0.414;0.619	T	0.69591	-0.5104	10	0.38643	T	0.18	-19.6389	9.7224	0.40311	0.1107:0.0:0.8893:0.0	.	1027;1027	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	S	1027	ENSP00000370968:R1027S;ENSP00000254718:R1027S	ENSP00000254718:R1027S	R	-	1	0	MYBBP1A	4392516	1.000000	0.71417	0.995000	0.50966	0.009000	0.06853	2.897000	0.48664	2.473000	0.83533	0.561000	0.74099	CGT		0.627	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		T	4445767	G	T	4445767	3	4	234	1	0	0	0	0	1	0	0	0	10010	1116	39	4	967	4	MYBBP1A	17	4445767	Missense_Mutation	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10	2815715	4445767	76749443	33	14289											
TAF15	8148	hgsc.bcm.edu	37	17	34171711	34171755	+	In_Frame_Del	DEL	GGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGT	GGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGT	-	rs543739946|rs569473616|rs144910879|rs187380389|rs368600342|rs577544142|rs144917137|rs181978759	byFrequency	TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	GGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGT	GGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr17:34171711_34171755delGGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGT	ENST00000588240.1	+	15	1523_1567	c.1408_1452delGGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGT	c.(1408-1452)ggctatggaggagaccgaggaggtggctatggaggagatcgaggtdel	p.GYGGDRGGGYGGDRG485del	TAF15_ENST00000311979.3_In_Frame_Del_p.GYGGDRGGGYGGDRG482del|TAF15_ENST00000592237.1_Intron	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		cagaggaggcggctatggaggagaccgaggaggtggctatggaggagatcgaggtggctatggag	0.612			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																		Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	0									,	40,224,3996		2,0,36,14,196,1882					,	-3.9	0.1			9	54,332,7866		1,0,52,25,282,3766	no	codingComplex,codingComplex	TAF15	NM_139215.1,NM_003487.2	,	3,0,88,39,478,5648	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6777,6.1972,5.195	,	,		94,556,11862				SO:0001651	inframe_deletion	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1408_1452delGGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGT	chr17.hg19:g.34171711_34171755delGGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGT	ENSP00000466950:p.Gly485_Gly499del		D3DPM5|Q15775|Q5T077	In_Frame_Del	DEL	ENST00000588240.1	hg19	CCDS32623.1																																																																																				0.612	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		-	34171755	GGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGT	-	34171711	7	5	234	1	0	1	0	1	0	0	0	0	15523	1116	39	0	1466	0	TAF15	17	34171711	In_Frame_Del	DEL	GGCTATGGAGGAGACCGAGGAGGTGGCTATGGAGGAGATCGAGGT	TCGA-B1-A47N-01A-11D-A25F-10	29725944	34171711	47023499	34	14290											
PPM1E	22843	hgsc.bcm.edu	37	17	56833457	56833457	+	Silent	SNP	G	G	C	rs3834568|rs201186780|rs74256772	byFrequency	TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr17:56833457G>C	ENST00000308249.2	+	1	228	c.99G>C	c.(97-99)ccG>ccC	p.P33P		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaac	0.672																																																0													14	20	18					17																	56833457		2188	4284	6472	SO:0001819	synonymous_variant	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.99G>C	chr17.hg19:g.56833457G>C			Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	hg19	CCDS11613.1																																																																																				0.672	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		C	56833457	G	C	56833457	2	2	234	1	0	0	0	0	0	0	0	1	12343	1103	39	4		4	PPM1E	17	56833457	Silent	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10	22661746	56833457	24361753	35	14291											
SIN3B	23309	hgsc.bcm.edu	37	19	16977317	16977317	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr19:16977317G>T	ENST00000248054.5	+	12	1777	c.1756G>T	c.(1756-1758)Gcc>Tcc	p.A586S	SIN3B_ENST00000595541.1_Missense_Mutation_p.A176S|SIN3B_ENST00000379803.1_Missense_Mutation_p.A618S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGACACCAAGGCCCTGCGCTC	0.602																																																0													147	105	119					19																	16977317		2203	4300	6503	SO:0001583	missense	23309			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.1756G>T	chr19.hg19:g.16977317G>T	ENSP00000248054:p.Ala586Ser			Missense_Mutation	SNP	ENST00000248054.5	hg19		.	.	.	.	.	.	.	.	.	.	G	32	5.177469	0.94846	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.49720	0.81;0.77	4.96	4.96	0.65561	.	0.107077	0.64402	D	0.000006	T	0.49592	0.1566	L	0.49778	1.585	0.80722	D	1	P;P;P	0.49862	0.929;0.851;0.781	P;P;P	0.47102	0.537;0.525;0.459	T	0.41378	-0.9512	10	0.20046	T	0.44	-4.1143	18.1922	0.89810	0.0:0.0:1.0:0.0	.	176;586;618	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	S	618;586	ENSP00000369131:A618S;ENSP00000248054:A586S	ENSP00000248054:A586S	A	+	1	0	SIN3B	16838317	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.611000	0.98342	2.282000	0.76494	0.491000	0.48974	GCC		0.602	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		T	16977317	G	T	16977317	3	4	234	1	0	0	0	0	1	0	0	0	14332	1203	42	4	1902	4	SIN3B	19	16977317	Missense_Mutation	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10		16977317	42151666	36	14292											
ZNF880	400713	hgsc.bcm.edu	37	19	52877551	52877551	+	Splice_Site	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr19:52877551G>A	ENST00000422689.2	+	3	154		c.e3-1		ZNF880_ENST00000597976.1_Splice_Site|ZNF880_ENST00000344085.5_Splice_Site|ZNF880_ENST00000600321.1_Splice_Site|ZNF880_ENST00000424032.2_Splice_Site	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TTTTTAAATAGGAATCTGTCT	0.403																																																0													52	43	46					19																	52877551		692	1591	2283	SO:0001630	splice_region_variant	400713			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.140-1G>A	chr19.hg19:g.52877551G>A			B4DNA6	Splice_Site	SNP	ENST00000422689.2	hg19	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	g	4.728	0.135350	0.09032	.	.	ENSG00000221923	ENST00000424032;ENST00000344085;ENST00000422689	.	.	.	1.13	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.23483	N	0.997585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6302	0.17506	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF880	57569363	0.003000	0.15002	0.027000	0.17364	0.231000	0.25187	0.510000	0.22723	0.920000	0.36970	0.448000	0.29417	.		0.403	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434	Intron	A	52877551	G	A	52877551	5	1	234	1	0	0	0	0	0	0	1	0	18202	1014	35	2	149	2	ZNF880	19	52877551	Splice_Site	SNP	G	TCGA-B1-A47N-01A-11D-A25F-10	35900234	52877551	6251432	37	14293											
TSPYL2	64061	hgsc.bcm.edu	37	X	53114044	53114044	+	Silent	SNP	C	C	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chrX:53114044C>A	ENST00000375442.4	+	3	1125	c.993C>A	c.(991-993)cgC>cgA	p.R331R		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	331					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGCGCAACCGCTCAGGTAAGT	0.498																																																0													105	85	92					X																	53114044		2203	4300	6503	SO:0001819	synonymous_variant	64061			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.993C>A	chrX.hg19:g.53114044C>A			O94799|Q96DG7|Q9BZW6	Silent	SNP	ENST00000375442.4	hg19	CCDS14350.1																																																																																				0.498	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		A	53114044	C	A	53114044	2	1	234	1	0	0	0	0	0	0	0	1	16665	784	28	4		4	TSPYL2	23	53114044	Silent	SNP	C	TCGA-B1-A47N-01A-11D-A25F-10		53114044	102156516	38	14294											
EPHA8	2046	hgsc.bcm.edu	37	1	22902757	22902757	+	Silent	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr1:22902757G>A	ENST00000166244.3	+	3	279	c.207G>A	c.(205-207)acG>acA	p.T69T	EPHA8_ENST00000538803.1_Silent_p.T69T|EPHA8_ENST00000374644.4_Silent_p.T69T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	69	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATCCACACGTACCAGGTTT	0.607																																																0													108	103	105					1																	22902757		2203	4300	6503	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.207G>A	chr1.hg19:g.22902757G>A			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	hg19	CCDS225.1																																																																																				0.607	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		A	22902757	G	A	22902757	2	1	235	1	0	0	0	0	0	0	0	1	5175	1132	40	1		1	EPHA8	1	22902757	Silent	SNP	G	TCGA-B1-A47O-01A-11D-A25F-10		22902757	226347864	1	14295											
ERI3	79033	hgsc.bcm.edu	37	1	44778900	44778900	+	Splice_Site	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr1:44778900G>A	ENST00000372257.2	-	5	788	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	ERI3_ENST00000372259.5_Splice_Site_p.L88F|ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Splice_Site_p.L26F	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	203	Exonuclease.						exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATCCCGGTGAGCTGAAAGGAA	0.498																																																0													77	77	77					1																	44778900		2203	4300	6503	SO:0001630	splice_region_variant	79033			AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"Enhanced RNAi three prime mRNA exonucleases"	17276	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)", "exoribonuclease 3"	609917	"prion protein interacting protein"	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.607-1C>T	chr1.hg19:g.44778900G>A			B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	ENST00000372257.2	hg19	CCDS30696.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465812	0.84425	.	.	ENSG00000117419	ENST00000372257;ENST00000372259;ENST00000456170;ENST00000537474;ENST00000433471;ENST00000372253;ENST00000452396;ENST00000457571	T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12	5.43	5.43	0.79202	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.167282	0.40908	D	0.000988	T	0.54951	0.1890	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.60900	-0.7171	10	0.87932	D	0	.	19.4202	0.94719	0.0:0.0:1.0:0.0	.	201;125;203	F6UGJ8;B4DN03;O43414	.;.;ERI3_HUMAN	F	203;88;42;26;85;69;85;201	ENSP00000361331:L203F;ENSP00000361333:L88F;ENSP00000390710:L42F;ENSP00000438360:L26F;ENSP00000396764:L85F;ENSP00000412291:L201F	ENSP00000361327:L69F	L	-	1	0	ERI3	44551487	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.471000	0.66762	2.825000	0.97269	0.655000	0.94253	CTC		0.498	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066	Missense_Mutation	A	44778900	G	A	44778900	5	1	235	1	0	0	0	0	0	0	1	0	5231	985	34	2	426	2	ERI3	1	44778900	Splice_Site	SNP	G	TCGA-B1-A47O-01A-11D-A25F-10	21876143	44778900	204471721	2	14296											
KCNN3	3782	hgsc.bcm.edu	37	1	154680665	154680665	+	Silent	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr1:154680665C>T	ENST00000271915.4	-	8	2298	c.1983G>A	c.(1981-1983)tcG>tcA	p.S661S	KCNN3_ENST00000358505.2_Silent_p.S348S|KCNN3_ENST00000361147.4_Silent_p.S356S|KCNN3_ENST00000515643.1_5'UTR	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	666					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GCTCCAGCTTCGACTCCAGGC	0.567																																																0													124	137	133					1																	154680665		2203	4300	6503	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1983G>A	chr1.hg19:g.154680665C>T			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	hg19	CCDS30880.1																																																																																				0.567	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		T	154680665	C	T	154680665	2	4	235	1	0	0	0	0	0	0	0	1	8082	871	31	1		1	KCNN3	1	154680665	Silent	SNP	C	TCGA-B1-A47O-01A-11D-A25F-10	109901765	154680665	94569956	3	14297											
SULT1C4	27233	hgsc.bcm.edu	37	2	109003803	109003804	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr2:109003803_109003804insCA	ENST00000272452.2	+	7	1150_1151	c.824_825insCA	c.(823-828)ttcaccfs	p.FT275fs	SULT1C4_ENST00000409309.3_Frame_Shift_Ins_p.FT200fs	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	275					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AAGAAACACTTCACCGTGGCTC	0.431																																																0																																										SO:0001589	frameshift_variant	27233			AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.825_826dupCA	chr2.hg19:g.109003804_109003805dupCA	ENSP00000272452:p.Phe275fs		Q069I8|Q08AS5|Q53S63	Frame_Shift_Ins	INS	ENST00000272452.2	hg19	CCDS2077.1																																																																																				0.431	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		CA	109003804	-	CA	109003803	7	5	235	1	0	1	1	0	0	0	0	0	15384	1783	62	0	850	0	SULT1C4	2	109003803	Frame_Shift_Ins	INS	-	TCGA-B1-A47O-01A-11D-A25F-10		109003803	134195570	4	14298											
SCN2A	6326	hgsc.bcm.edu	37	2	166246020	166246020	+	Missense_Mutation	SNP	C	C	T	rs367833365		TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr2:166246020C>T	ENST00000375437.2	+	27	5994	c.5704C>T	c.(5704-5706)Cgc>Tgc	p.R1902C	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1902C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1902C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1902C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1902			R -> T (associated with autism). {ECO:0000269|PubMed:12610651}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACGTTGAAACGCAAACAAGA	0.433																																																0			GRCh37	CM034570	SCN2A	M		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	87	81	83		5704,5704,5704	5.9	1	2		83	0,8600		0,0,4300	no	missense,missense,missense	SCN2A	NM_001040142.1,NM_001040143.1,NM_021007.2	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1902/2006,1902/2006,1902/2006	166246020	1,13005	2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5704C>T	chr2.hg19:g.166246020C>T	ENSP00000364586:p.Arg1902Cys		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	hg19	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814541	0.50527	2.27E-4	0.0	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11	5.87	5.87	0.94306	.	0.113909	0.37261	N	0.002173	D	0.98362	0.9456	M	0.90922	3.16	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	P;D	0.87578	0.865;0.998	D	0.98727	1.0711	10	0.66056	D	0.02	.	13.6126	0.62088	0.2709:0.7291:0.0:0.0	.	1902;1902	Q99250-2;Q99250	.;SCN2A_HUMAN	C	1902	ENSP00000364586:R1902C;ENSP00000349973:R1902C;ENSP00000283256:R1902C;ENSP00000364576:R1902C	ENSP00000283256:R1902C	R	+	1	0	SCN2A	165954266	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.510000	0.45468	2.785000	0.95823	0.585000	0.79938	CGC		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166246020	C	T	166246020	3	4	235	1	0	0	0	0	1	0	0	0	13922	536	19	1	5902	1	SCN2A	2	166246020	Missense_Mutation	SNP	C	TCGA-B1-A47O-01A-11D-A25F-10	57242217	166246020	76953353	5	14299											
LRP2	4036	hgsc.bcm.edu	37	2	170003429	170003429	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr2:170003429C>T	ENST00000263816.3	-	69	12916	c.12631G>A	c.(12631-12633)Gag>Aag	p.E4211K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4211					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CAGGCAGACTCGATTTTAGGT	0.458																																																0													83	63	70					2																	170003429		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12631G>A	chr2.hg19:g.170003429C>T	ENSP00000263816:p.Glu4211Lys		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742166	0.96873	.	.	ENSG00000081479	ENST00000263816	D	0.93604	-3.25	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97877	1.0289	10	0.66056	D	0.02	.	19.7612	0.96319	0.0:1.0:0.0:0.0	.	4211	P98164	LRP2_HUMAN	K	4211	ENSP00000263816:E4211K	ENSP00000263816:E4211K	E	-	1	0	LRP2	169711675	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.818000	0.86416	2.670000	0.90874	0.655000	0.94253	GAG		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170003429	C	T	170003429	3	4	235	1	0	0	0	0	1	0	0	0	8958	893	31	1	1380	1	LRP2	2	170003429	Missense_Mutation	SNP	C	TCGA-B1-A47O-01A-11D-A25F-10	3757409	170003429	73195944	6	14300											
TTN	7273	hgsc.bcm.edu	37	2	179473456	179473456	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr2:179473456A>T	ENST00000591111.1	-	224	47583	c.47359T>A	c.(47359-47361)Tgc>Agc	p.C15787S	TTN_ENST00000342992.6_Missense_Mutation_p.C14860S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C8488S|TTN_ENST00000460472.2_Missense_Mutation_p.C8363S|TTN_ENST00000589042.1_Missense_Mutation_p.C17428S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C8555S|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15787	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATATTTGCAATGTCTAAGT	0.398																																																0													116	109	111					2																	179473456		1874	4114	5988	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47359T>A	chr2.hg19:g.179473456A>T	ENSP00000465570:p.Cys15787Ser		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	A	13.26	2.183832	0.38609	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61590	0.2359	L	0.41124	1.26	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.64537	-0.6384	9	0.87932	D	0	.	15.9966	0.80256	1.0:0.0:0.0:0.0	.	8363;8488;8555;15787	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	14860;8363;8555;8488;8363	ENSP00000343764:C14860S;ENSP00000434586:C8363S;ENSP00000340554:C8555S;ENSP00000352154:C8488S	ENSP00000340554:C8555S	C	-	1	0	TTN	179181701	1.000000	0.71417	0.979000	0.43373	0.994000	0.84299	5.134000	0.64770	2.179000	0.69175	0.460000	0.39030	TGC		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179473456	A	T	179473456	3	4	235	1	0	0	0	0	1	0	0	0	16740	130	5	5	55767	5	TTN	2	179473456	Missense_Mutation	SNP	A	TCGA-B1-A47O-01A-11D-A25F-10	9470027	179473456	63725917	7	14301											
NSUN3	63899	hgsc.bcm.edu	37	3	93845254	93845254	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr3:93845254G>T	ENST00000314622.4	+	6	1154	c.943G>T	c.(943-945)Gtg>Ttg	p.V315L		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	315							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TGGGCTCTTAGTGATTCCAGA	0.463																																																0													74	71	72					3																	93845254		2203	4300	6503	SO:0001583	missense	63899			BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"NOP2/Sun domain containing"	26208	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 3", "NOL1/NOP2/Sun domain family, member 3"			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.943G>T	chr3.hg19:g.93845254G>T	ENSP00000318986:p.Val315Leu		Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	hg19	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523084	0.85600	.	.	ENSG00000178694	ENST00000314622	T	0.08720	3.06	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	M	0.81112	2.525	0.58432	D	0.999995	D	0.76494	0.999	D	0.78314	0.991	T	0.02477	-1.1153	10	0.72032	D	0.01	-17.5839	20.2789	0.98501	0.0:0.0:1.0:0.0	.	315	Q9H649	NSUN3_HUMAN	L	315	ENSP00000318986:V315L	ENSP00000318986:V315L	V	+	1	0	NSUN3	95327944	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.548000	0.82154	2.788000	0.95919	0.650000	0.86243	GTG		0.463	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		T	93845254	G	T	93845254	3	4	235	1	0	0	0	0	1	0	0	0	10681	1029	36	4	965	4	NSUN3	3	93845254	Missense_Mutation	SNP	G	TCGA-B1-A47O-01A-11D-A25F-10		93845254	104177176	8	14302											
DNAH8	1769	hgsc.bcm.edu	37	6	38781879	38781879	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr6:38781879G>A	ENST00000359357.3	+	23	2910	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	DNAH8_ENST00000449981.2_Missense_Mutation_p.E1103K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E886K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	886					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATAAAAAGTGAAGTACATCT	0.323																																																0													113	124	120					6																	38781879		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2656G>A	chr6.hg19:g.38781879G>A	ENSP00000352312:p.Glu886Lys		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	G	16.25	3.071426	0.55646	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.57436	0.4;0.4;0.4	5.33	5.33	0.75918	.	0.128175	0.49916	D	0.000132	T	0.31702	0.0805	L	0.56769	1.78	0.48135	D	0.999592	B	0.16396	0.017	B	0.13407	0.009	T	0.28776	-1.0033	10	0.08599	T	0.76	.	16.803	0.85618	0.0:0.0:1.0:0.0	.	886	Q96JB1	DYH8_HUMAN	K	1091;1091;886;886	ENSP00000333363:E1091K;ENSP00000352312:E886K;ENSP00000402294:E886K	ENSP00000333363:E1091K	E	+	1	0	DNAH8	38889857	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	5.832000	0.69337	2.503000	0.84419	0.655000	0.94253	GAA		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38781879	G	A	38781879	3	1	235	1	0	0	0	0	1	0	0	0	4609	1291	45	2	2738	2	DNAH8	6	38781879	Missense_Mutation	SNP	G	TCGA-B1-A47O-01A-11D-A25F-10		38781879	132333188	9	14303											
IQCE	23288	hgsc.bcm.edu	37	7	2645529	2645529	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr7:2645529T>C	ENST00000402050.2	+	20	1947	c.1763T>C	c.(1762-1764)gTt>gCt	p.V588A	IQCE_ENST00000404984.1_Missense_Mutation_p.V537A|IQCE_ENST00000325979.7_Missense_Mutation_p.V523A|IQCE_ENST00000438376.2_Missense_Mutation_p.V572A	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	588						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GTGCCCCGCGTTCCGAGCCCC	0.697																																																0													26	33	31					7																	2645529		2083	4195	6278	SO:0001583	missense	23288			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1763T>C	chr7.hg19:g.2645529T>C	ENSP00000385597:p.Val588Ala		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	hg19	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	T	5.392	0.257572	0.10239	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	T;T;T;T;T	0.29142	2.54;2.51;2.54;2.52;1.58	4.79	-5.48	0.02592	.	1.687250	0.03947	N	0.287950	T	0.17577	0.0422	L	0.32530	0.975	0.09310	N	1	P;P;B;P;B	0.37141	0.524;0.584;0.144;0.524;0.4	B;B;B;B;B	0.34418	0.095;0.182;0.035;0.095;0.121	T	0.18493	-1.0335	10	0.10377	T	0.69	-0.0383	7.0173	0.24895	0.0:0.2771:0.493:0.2299	.	523;572;588;588;572	B4DXN1;B4DDX4;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;IQCE_HUMAN;.;.	A	588;537;572;523;168	ENSP00000385597:V588A;ENSP00000385945:V537A;ENSP00000396178:V572A;ENSP00000313772:V523A;ENSP00000405982:V168A	ENSP00000313772:V523A	V	+	2	0	IQCE	2612055	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.293000	0.08320	-0.613000	0.05694	0.459000	0.35465	GTT		0.697	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		C	2645529	T	C	2645529	3	2	235	1	0	0	0	0	1	0	0	0	7808	1725	60	3	1841	3	IQCE	7	2645529	Missense_Mutation	SNP	T	TCGA-B1-A47O-01A-11D-A25F-10		2645529	156493134	10	14304											
PCLO	27445	hgsc.bcm.edu	37	7	82544315	82544315	+	Silent	SNP	A	A	G			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr7:82544315A>G	ENST00000333891.9	-	7	13324	c.12987T>C	c.(12985-12987)agT>agC	p.S4329S	PCLO_ENST00000423517.2_Silent_p.S4329S|PCLO_ENST00000437081.1_Silent_p.S1049S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGATGCATGACTAAAGGAAA	0.428																																																0													81	78	79					7																	82544315		1889	4111	6000	SO:0001819	synonymous_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12987T>C	chr7.hg19:g.82544315A>G				Silent	SNP	ENST00000333891.9	hg19	CCDS47630.1																																																																																				0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82544315	A	G	82544315	2	3	235	1	0	0	0	0	0	0	0	1	11585	272	10	3		3	PCLO	7	82544315	Silent	SNP	A	TCGA-B1-A47O-01A-11D-A25F-10	79898786	82544315	76594348	11	14305											
NDUFB6	4712	hgsc.bcm.edu	37	9	32571048	32571048	+	Silent	SNP	G	G	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr9:32571048G>T	ENST00000379847.3	-	2	284	c.183C>A	c.(181-183)gtC>gtA	p.V61V	NDUFB6_ENST00000350021.2_Silent_p.V61V	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	61					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 membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		ATACCCCATGGACCTGGGGGG	0.328																																																0													39	39	39					9																	32571048		2203	4289	6492	SO:0001819	synonymous_variant	4712			AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"Mitochondrial respiratory chain complex / Complex I"	7701	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase beta subunit, 6", "NADH-ubiquinone oxidoreductase B17 subunit", "complex I, mitochondrial respiratory chain, B17 subunit"	603322	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.183C>A	chr9.hg19:g.32571048G>T			A8K0Y7|Q5VYT2|Q6IB84	Silent	SNP	ENST00000379847.3	hg19	CCDS6528.1																																																																																				0.328	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052001.1	NM_002493		T	32571048	G	T	32571048	2	4	235	1	0	0	0	0	0	0	0	1	10287	1161	41	4		4	NDUFB6	9	32571048	Silent	SNP	G	TCGA-B1-A47O-01A-11D-A25F-10		32571048	108642383	12	14306											
SECISBP2	79048	hgsc.bcm.edu	37	9	91964729	91964729	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr9:91964729G>A	ENST00000375807.3	+	13	1848	c.1777G>A	c.(1777-1779)Gtt>Att	p.V593I	SECISBP2_ENST00000534113.2_Missense_Mutation_p.V525I|SECISBP2_ENST00000339901.4_Missense_Mutation_p.V520I	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	593					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CACTCCTTCGGTTGAGGACAA	0.562																																																0													149	126	134					9																	91964729		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1777G>A	chr9.hg19:g.91964729G>A	ENSP00000364965:p.Val593Ile		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	hg19	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	9.108	1.005789	0.19199	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.72835	-0.69;-0.69;-0.69	4.41	2.53	0.30540	.	1.563310	0.03304	N	0.189460	T	0.68668	0.3026	L	0.54323	1.7	0.09310	N	1	B;B;B	0.20052	0.024;0.041;0.006	B;B;B	0.19946	0.012;0.027;0.012	T	0.48822	-0.9001	10	0.34782	T	0.22	-0.0032	9.8267	0.40916	0.086:0.1414:0.7726:0.0	.	600;520;593	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	I	593;599;520;525	ENSP00000364965:V593I;ENSP00000364959:V520I;ENSP00000436650:V525I	ENSP00000364959:V520I	V	+	1	0	SECISBP2	91154549	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.188000	0.17018	0.134000	0.18681	-0.797000	0.03246	GTT		0.562	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		A	91964729	G	A	91964729	3	1	235	1	0	0	0	0	1	0	0	0	14012	1261	44	2	1827	2	SECISBP2	9	91964729	Missense_Mutation	SNP	G	TCGA-B1-A47O-01A-11D-A25F-10	59393681	91964729	49248702	13	14307											
ERC1	23085	hgsc.bcm.edu	37	12	1372211	1372211	+	Silent	SNP	T	T	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr12:1372211T>A	ENST00000397203.2	+	14	2905	c.2499T>A	c.(2497-2499)cgT>cgA	p.R833R	ERC1_ENST00000589028.1_Silent_p.R833R|ERC1_ENST00000355446.5_Silent_p.R833R|ERC1_ENST00000543086.3_Silent_p.R805R|ERC1_ENST00000360905.4_Silent_p.R833R|ERC1_ENST00000546231.2_Silent_p.R837R			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	833					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACAGTCTCCGTAAGAAGGATG	0.423																																																0													75	70	72					12																	1372211		2203	4300	6503	SO:0001819	synonymous_variant	23085			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2499T>A	chr12.hg19:g.1372211T>A			A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Silent	SNP	ENST00000397203.2	hg19	CCDS8508.1																																																																																				0.423	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		A	1372211	T	A	1372211	2	1	235	1	0	0	0	0	0	0	0	1	5212	1625	57	5		5	ERC1	12	1372211	Silent	SNP	T	TCGA-B1-A47O-01A-11D-A25F-10		1372211	132479684	14	14308											
GALNT6	11226	hgsc.bcm.edu	37	12	51757995	51757995	+	Missense_Mutation	SNP	C	C	G	rs138580901	byFrequency	TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr12:51757995C>G	ENST00000543196.2	-	5	1164	c.959G>C	c.(958-960)cGa>cCa	p.R320P	GALNT6_ENST00000356317.3_Missense_Mutation_p.R320P			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	320					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAAGTTGCCTCGGCTATGGAC	0.552																																																0													114	105	108					12																	51757995		2203	4300	6503	SO:0001583	missense	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.959G>C	chr12.hg19:g.51757995C>G	ENSP00000444171:p.Arg320Pro		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	hg19	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540572	0.85917	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.61040	0.14;0.14	4.59	4.59	0.56863	Glycosyl transferase, family 2 (1);	0.414998	0.27720	N	0.018126	T	0.79930	0.4531	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82669	-0.0343	10	0.56958	D	0.05	.	17.3609	0.87350	0.0:1.0:0.0:0.0	.	320	Q8NCL4	GALT6_HUMAN	P	320;320;301	ENSP00000444171:R320P;ENSP00000348668:R320P	ENSP00000348668:R320P	R	-	2	0	GALNT6	50044262	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	5.811000	0.69187	2.837000	0.97791	0.655000	0.94253	CGA		0.552	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		G	51757995	C	G	51757995	3	3	235	1	0	0	0	0	1	0	0	0	6219	884	31	4	937	4	GALNT6	12	51757995	Missense_Mutation	SNP	C	TCGA-B1-A47O-01A-11D-A25F-10	50385784	51757995	82093900	15	14309											
C12orf51	283450	hgsc.bcm.edu	37	12	112605266	112605266	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr12:112605266C>T	ENST00000430131.2	-	71	12268	c.11123G>A	c.(11122-11124)gGg>gAg	p.G3708E	HECTD4_ENST00000550722.1_Missense_Mutation_p.G3984E|HECTD4_ENST00000377560.5_Missense_Mutation_p.G3958E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3708	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AATTGCAATCCCCAGCAGCTG	0.647																																																0													48	55	53					12																	112605266		1986	4146	6132	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11123G>A	chr12.hg19:g.112605266C>T	ENSP00000404379:p.Gly3708Glu		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	hg19		.	.	.	.	.	.	.	.	.	.	C	21.4	4.141592	0.77775	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.60920	0.15;0.15;0.15	5.39	5.39	0.77823	HECT (4);	.	.	.	.	T	0.81583	0.4853	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85365	0.1110	9	0.87932	D	0	.	19.1437	0.93457	0.0:1.0:0.0:0.0	.	3708	Q9Y4D8	K0614_HUMAN	E	3958;3708;3984;173	ENSP00000366783:G3958E;ENSP00000404379:G3708E;ENSP00000449784:G3984E	ENSP00000366783:G3958E	G	-	2	0	C12orf51	111089649	1.000000	0.71417	0.954000	0.39281	0.354000	0.29330	7.336000	0.79245	2.551000	0.86045	0.491000	0.48974	GGG		0.647	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112605266	C	T	112605266	3	4	235	1	0	0	0	0	1	0	0	0	1698	623	22	2	887	2	C12orf51	12	112605266	Missense_Mutation	SNP	C	TCGA-B1-A47O-01A-11D-A25F-10	60847271	112605266	21246629	16	14310											
MTUS2	23281	hgsc.bcm.edu	37	13	29675028	29675028	+	Silent	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr13:29675028C>T	ENST00000431530.3	+	3	2653	c.2595C>T	c.(2593-2595)gtC>gtT	p.V865V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	855	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTGGCTTTGTCCGGAGCTCCA	0.622																																																0													9	10	10					13																	29675028		2018	4165	6183	SO:0001819	synonymous_variant	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2595C>T	chr13.hg19:g.29675028C>T			A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	hg19	CCDS45022.1																																																																																				0.622	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		T	29675028	C	T	29675028	2	4	235	1	0	0	0	0	0	0	0	1	9968	842	30	2		2	MTUS2	13	29675028	Silent	SNP	C	TCGA-B1-A47O-01A-11D-A25F-10		29675028	85494850	17	14311											
TRIP4	9325	hgsc.bcm.edu	37	15	64702014	64702014	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr15:64702014G>C	ENST00000261884.3	+	7	1090	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	344					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTCACTAGCAGAGTATCATAG	0.433																																																0													79	79	79					15																	64702014		2203	4300	6503	SO:0001583	missense	9325			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"-"	12310	protein-coding gene	gene with protein product	"zinc finger, C2HC5-type"	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1030G>C	chr15.hg19:g.64702014G>C	ENSP00000261884:p.Glu344Gln		B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	hg19	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244397	0.59103	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.81	5.81	0.92471	.	0.138874	0.64402	D	0.000005	T	0.78110	0.4232	M	0.80422	2.495	0.53005	D	0.999961	D	0.67145	0.996	P	0.57846	0.828	T	0.76710	-0.2859	9	0.38643	T	0.18	-24.7936	20.0734	0.97734	0.0:0.0:1.0:0.0	.	344	Q15650	TRIP4_HUMAN	Q	344	.	ENSP00000261884:E344Q	E	+	1	0	TRIP4	62489067	1.000000	0.71417	0.934000	0.37439	0.262000	0.26303	4.870000	0.63035	2.751000	0.94390	0.555000	0.69702	GAG		0.433	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		C	64702014	G	C	64702014	3	2	235	1	0	0	0	0	1	0	0	0	16563	943	33	4	1056	4	TRIP4	15	64702014	Missense_Mutation	SNP	G	TCGA-B1-A47O-01A-11D-A25F-10		64702014	37829378	18	14312											
DNAH2	146754	hgsc.bcm.edu	37	17	7734797	7734797	+	Silent	SNP	C	C	G			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr17:7734797C>G	ENST00000572933.1	+	81	14009	c.12549C>G	c.(12547-12549)tcC>tcG	p.S4183S	DNAH2_ENST00000389173.2_Silent_p.S4183S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4183					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCGACCCCTCCCCCCTCAATG	0.547																																																0													75	69	71					17																	7734797		2203	4300	6503	SO:0001819	synonymous_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12549C>G	chr17.hg19:g.7734797C>G			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	hg19	CCDS32551.1																																																																																				0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		G	7734797	C	G	7734797	2	3	235	1	0	0	0	0	0	0	0	1	4604	610	22	4		4	DNAH2	17	7734797	Silent	SNP	C	TCGA-B1-A47O-01A-11D-A25F-10		7734797	73460413	19	14313											
PIPOX	51268	hgsc.bcm.edu	37	17	27379969	27379969	+	Missense_Mutation	SNP	G	G	C	rs58011977	byFrequency	TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr17:27379969G>C	ENST00000323372.4	+	3	621	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	99					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GGGAATGAAAGAGAATCAAGA	0.448																																																0													77	74	75					17																	27379969		2203	4300	6503	SO:0001583	missense	51268			AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"L-pipecolic acid oxidase"					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.295G>C	chr17.hg19:g.27379969G>C	ENSP00000317721:p.Glu99Gln		B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	hg19	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	G	7.939	0.742323	0.15642	.	.	ENSG00000179761	ENST00000323372;ENST00000419875	D	0.82984	-1.67	5.98	5.98	0.97165	FAD dependent oxidoreductase (1);	0.359343	0.34628	N	0.003812	D	0.84009	0.5378	L	0.46741	1.465	0.20074	N	0.999938	P	0.37594	0.601	P	0.45558	0.485	T	0.77993	-0.2378	10	0.48119	T	0.1	-19.736	17.9305	0.88996	0.0:0.0:1.0:0.0	.	99	Q9P0Z9	SOX_HUMAN	Q	99;30	ENSP00000317721:E99Q	ENSP00000317721:E99Q	E	+	1	0	PIPOX	24404095	0.321000	0.24625	0.962000	0.40283	0.014000	0.08584	2.932000	0.48940	2.837000	0.97791	0.591000	0.81541	GAG		0.448	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		C	27379969	G	C	27379969	3	2	235	1	0	0	0	0	1	0	0	0	11945	943	33	4	305	4	PIPOX	17	27379969	Missense_Mutation	SNP	G	TCGA-B1-A47O-01A-11D-A25F-10	19645172	27379969	53815241	20	14314											
CETN1	1068	hgsc.bcm.edu	37	18	580595	580595	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr18:580595G>A	ENST00000327228.3	+	1	229	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	63	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)	p.E63K(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GCTGGGCTTCGAACCCAGGAA	0.552																																																1	Substitution - Missense(1)	lung(1)											77	59	65					18																	580595		2203	4300	6503	SO:0001583	missense	1068			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"EF-hand domain containing"	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.187G>A	chr18.hg19:g.580595G>A	ENSP00000319052:p.Glu63Lys		B2R536	Missense_Mutation	SNP	ENST00000327228.3	hg19	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301757	0.81136	.	.	ENSG00000177143	ENST00000327228	T	0.37058	1.22	5.2	5.2	0.72013	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	N	0.21617	0.685	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.46176	-0.9210	10	0.72032	D	0.01	.	16.6478	0.85181	0.0:0.0:1.0:0.0	.	63	Q12798	CETN1_HUMAN	K	63	ENSP00000319052:E63K	ENSP00000319052:E63K	E	+	1	0	CETN1	570595	1.000000	0.71417	0.887000	0.34795	0.129000	0.20672	4.687000	0.61708	2.882000	0.98803	0.655000	0.94253	GAA		0.552	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		A	580595	G	A	580595	3	1	235	1	0	0	0	0	1	0	0	0	3276	1059	37	1	189	1	CETN1	18	580595	Missense_Mutation	SNP	G	TCGA-B1-A47O-01A-11D-A25F-10		580595	77496653	21	14315											
LPIN2	9663	hgsc.bcm.edu	37	18	2937962	2937962	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr18:2937962C>A	ENST00000261596.4	-	7	1134	c.896G>T	c.(895-897)cGg>cTg	p.R299L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	299					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGGAATTACCCGAAAATGAGT	0.413																																																0													151	144	146					18																	2937962		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.896G>T	chr18.hg19:g.2937962C>A	ENSP00000261596:p.Arg299Leu		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	hg19	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724085	0.68959	.	.	ENSG00000101577	ENST00000261596	T	0.81330	-1.48	5.86	5.86	0.93980	.	0.160462	0.56097	D	0.000036	T	0.79003	0.4373	M	0.70842	2.15	0.58432	D	0.999999	B	0.18166	0.026	B	0.19391	0.025	T	0.73720	-0.3894	10	0.07482	T	0.82	.	18.367	0.90394	0.0:1.0:0.0:0.0	.	299	Q92539	LPIN2_HUMAN	L	299	ENSP00000261596:R299L	ENSP00000261596:R299L	R	-	2	0	LPIN2	2927962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.670000	0.74467	2.775000	0.95449	0.655000	0.94253	CGG		0.413	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		A	2937962	C	A	2937962	3	1	235	1	0	0	0	0	1	0	0	0	8921	652	23	4	1850	4	LPIN2	18	2937962	Missense_Mutation	SNP	C	TCGA-B1-A47O-01A-11D-A25F-10	2357367	2937962	75139286	22	14316											
PAF1	55588	hgsc.bcm.edu	37	19	39879309	39879309	+	5'Flank	SNP	T	T	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr19:39879309T>C	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Missense_Mutation_p.M240V|PAF1_ENST00000221265.3_Missense_Mutation_p.M250V|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221266.7_Missense_Mutation_p.M217V|MED29_ENST00000315588.5_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCTCATCCATCATGCCCCTG	0.532																																																0													102	88	93					19																	39879309		2203	4300	6503	SO:0001631	upstream_gene_variant	54623			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			chr19.hg19:g.39879309T>C	Exception_encountered		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	hg19		.	.	.	.	.	.	.	.	.	.	T	10.70	1.423601	0.25639	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.25	4.23	0.50019	.	0.151964	0.64402	D	0.000008	T	0.33673	0.0871	N	0.16862	0.45	0.58432	D	0.999997	B;B	0.27316	0.175;0.046	B;B	0.26094	0.058;0.066	T	0.08953	-1.0697	9	0.25751	T	0.34	-19.7403	9.6931	0.40141	0.1554:0.0:0.0:0.8446	.	217;250	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	V	250;217;197	.	ENSP00000221265:M250V	M	-	1	0	PAF1	44571149	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.109000	0.77062	0.989000	0.38761	0.528000	0.53228	ATG		0.532	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		C	39879309	T	C	39879309	1	2	235	0	1	0	0	0	0	0	0	0	11385	1435	50	3		3	PAF1	19	39879309	5'Flank	SNP	T	TCGA-B1-A47O-01A-11D-A25F-10		39879309	19249674	23	14317											
SPTBN4	57731	hgsc.bcm.edu	37	19	41063170	41063170	+	Missense_Mutation	SNP	G	G	A	rs556623605		TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr19:41063170G>A	ENST00000352632.3	+	26	5617	c.5531G>A	c.(5530-5532)cGa>cAa	p.R1844Q	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1844Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1844Q|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R520Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1844Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R587Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1844					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTGACGCCCGAGAGCTTCAG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		14986	0.001		0.0	False		,,,				2504	0.0															0													26	31	29					19																	41063170		2202	4299	6501	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5531G>A	chr19.hg19:g.41063170G>A	ENSP00000263373:p.Arg1844Gln		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	hg19	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175439	0.57692	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	3.63	3.63	0.41609	.	0.000000	0.56097	D	0.000021	T	0.38026	0.1025	L	0.31752	0.955	0.32656	N	0.518776	P;P;D;D	0.64830	0.694;0.765;0.994;0.99	B;B;P;P	0.61397	0.117;0.149;0.888;0.853	T	0.37572	-0.9700	10	0.23891	T	0.37	.	8.599	0.33734	0.1104:0.0:0.8896:0.0	.	587;520;1844;1844	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	Q	1844;1844;1844;587;520	ENSP00000263373:R1844Q;ENSP00000340345:R1844Q;ENSP00000375879:R587Q;ENSP00000375877:R520Q	ENSP00000340345:R1844Q	R	+	2	0	SPTBN4	45755010	0.001000	0.12720	0.978000	0.43139	0.919000	0.55068	0.856000	0.27818	2.036000	0.60181	0.455000	0.32223	CGA		0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			A	41063170	G	A	41063170	3	1	235	1	0	0	0	0	1	0	0	0	15126	1058	37	1	5629	1	SPTBN4	19	41063170	Missense_Mutation	SNP	G	TCGA-B1-A47O-01A-11D-A25F-10	1183861	41063170	18065813	24	14318											
HRC	3270	hgsc.bcm.edu	37	19	49657889	49657889	+	Silent	SNP	T	T	C	rs57199624|rs147238387|rs551367394|rs542091249		TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr19:49657889T>C	ENST00000252825.4	-	1	792	c.606A>G	c.(604-606)gaA>gaG	p.E202E	HRC_ENST00000595625.1_Silent_p.E202E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	202	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		AGGcctcctcttcctcctcct	0.567																																					Melanoma(37;75 1097 24567 25669 30645)											0													122	91	101					19																	49657889		2203	4300	6503	SO:0001819	synonymous_variant	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.606A>G	chr19.hg19:g.49657889T>C			Q504Y6	Silent	SNP	ENST00000252825.4	hg19	CCDS12759.1																																																																																				0.567	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		C	49657889	T	C	49657889	2	2	235	1	0	0	0	0	0	0	0	1	7354	1606	56	3		3	HRC	19	49657889	Silent	SNP	T	TCGA-B1-A47O-01A-11D-A25F-10	8594719	49657889	9471094	25	14319											
NLRP11	204801	hgsc.bcm.edu	37	19	56320200	56320200	+	Missense_Mutation	SNP	C	C	G	rs16986626	byFrequency	TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr19:56320200C>G	ENST00000589093.1	-	3	1869	c.1776G>C	c.(1774-1776)agG>agC	p.R592S	NLRP11_ENST00000443188.1_Missense_Mutation_p.R592S|NLRP11_ENST00000360133.3_Missense_Mutation_p.R592S|NLRP11_ENST00000592953.1_Missense_Mutation_p.R493S|NLRP11_ENST00000589824.2_Missense_Mutation_p.R592S			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	592							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACTTAAGTGTCCTCAGGTGAC	0.408																																																0													130	118	122					19																	56320200		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1776G>C	chr19.hg19:g.56320200C>G	ENSP00000466285:p.Arg592Ser		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	hg19	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	9.578	1.122803	0.20959	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.53423	0.62;0.62	2.39	0.0904	0.14463	.	.	.	.	.	T	0.38983	0.1061	L	0.42245	1.32	0.80722	P	0.0	B;B	0.33345	0.286;0.409	B;B	0.40199	0.12;0.322	T	0.47129	-0.9141	8	0.56958	D	0.05	.	3.403	0.07331	0.0:0.5605:0.2737:0.1658	.	592;592	P59045;P59045-2	NAL11_HUMAN;.	S	592	ENSP00000409898:R592S;ENSP00000353251:R592S	ENSP00000353251:R592S	R	-	3	2	NLRP11	61012012	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.018000	0.13422	0.099000	0.17552	0.655000	0.94253	AGG		0.408	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		G	56320200	C	G	56320200	3	3	235	1	0	0	0	0	1	0	0	0	10475	854	30	4	1357	4	NLRP11	19	56320200	Missense_Mutation	SNP	C	TCGA-B1-A47O-01A-11D-A25F-10	6662311	56320200	2808783	26	14320											
ASIP	434	hgsc.bcm.edu	37	20	32856797	32856797	+	Splice_Site	SNP	A	A	G	rs538816237		TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr20:32856797A>G	ENST00000568305.1	+	4	425	c.223A>G	c.(223-225)Aag>Gag	p.K75E	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Splice_Site_p.K75E			P42127	ASIP_HUMAN	agouti signaling protein	75	Arg/Lys-rich (basic).				adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|generation of precursor metabolites and energy (GO:0006091)|genetic imprinting (GO:0071514)|hormone-mediated signaling pathway (GO:0009755)|melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|regulation of molecular function, epigenetic (GO:0040030)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(2)	3						TCCCACGCAGAAGGAGGCTTC	0.697													A|||	1	0.000199681	0.0	0.0	5008	,	,		12806	0.001		0.0	False		,,,				2504	0.0															0													8	11	10					20																	32856797		2188	4282	6470	SO:0001630	splice_region_variant	434				CCDS13232.1	20q11.2-q12	2010-06-24	2010-06-24		ENSG00000101440	ENSG00000101440			745	protein-coding gene	gene with protein product	"nonagouti homolog (mouse)"	600201	"agouti (mouse)-signaling protein", "agouti signaling protein, nonagouti homolog (mouse)"	AGTIL		7937887, 7757071	Standard	NM_001672		Approved	ASP	uc002xah.1	P42127	OTTHUMG00000032289	ENST00000568305.1:c.223-1A>G	chr20.hg19:g.32856797A>G			Q3SXL2	Missense_Mutation	SNP	ENST00000568305.1	hg19	CCDS13232.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744523	0.49151	.	.	ENSG00000101440	ENST00000374954	T	0.31769	1.48	4.61	4.61	0.57282	.	0.063957	0.64402	D	0.000013	T	0.48660	0.1512	M	0.82323	2.585	0.40299	D	0.978584	P	0.51240	0.943	P	0.54346	0.749	T	0.54970	-0.8213	9	.	.	.	.	10.3603	0.43989	1.0:0.0:0.0:0.0	.	75	P42127	ASIP_HUMAN	E	75	ENSP00000364092:K75E	.	K	+	1	0	ASIP	32320458	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	3.560000	0.53763	1.942000	0.56320	0.397000	0.26171	AAG		0.697	ASIP-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430541.1		Missense_Mutation	G	32856797	A	G	32856797	5	3	235	1	0	0	0	0	0	0	1	0	1043	260	9	3	233	3	ASIP	20	32856797	Splice_Site	SNP	A	TCGA-B1-A47O-01A-11D-A25F-10		32856797	30168723	27	14321											
CYTSA	23384	hgsc.bcm.edu	37	22	24720193	24720193	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr22:24720193G>T	ENST00000314328.9	+	6	2229	c.1944G>T	c.(1942-1944)gaG>gaT	p.E648D	SPECC1L_ENST00000437398.1_Missense_Mutation_p.E648D|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.E648D|SPECC1L_ENST00000541492.1_Missense_Mutation_p.E648D|SPECC1L_ENST00000416735.1_3'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	648					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CGTAGGTAGAGGATGAATACC	0.368																																																0													102	105	104					22																	24720193		2203	4300	6503	SO:0001583	missense	23384			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1944G>T	chr22.hg19:g.24720193G>T	ENSP00000325785:p.Glu648Asp		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	hg19	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992942	0.35131	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.63580	-0.05;2.47;-0.05;2.95	5.42	-0.409	0.12378	.	0.099964	0.64402	D	0.000002	T	0.44871	0.1314	N	0.25890	0.77	0.39772	D	0.972172	B;B	0.24043	0.096;0.0	B;B	0.24006	0.05;0.001	T	0.27773	-1.0064	10	0.45353	T	0.12	-28.2528	10.7545	0.46228	0.5634:0.0:0.4366:0.0	.	648;648	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	D	676;648;648;648;648	ENSP00000393363:E648D;ENSP00000405671:E648D;ENSP00000325785:E648D;ENSP00000439633:E648D	ENSP00000325785:E648D	E	+	3	2	SPECC1L	23050193	0.999000	0.42202	0.995000	0.50966	0.799000	0.45148	0.721000	0.25911	-0.091000	0.12440	-0.469000	0.05056	GAG		0.368	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		T	24720193	G	T	24720193	3	4	235	1	0	0	0	0	1	0	0	0	4211	991	35	4	1958	4	CYTSA	22	24720193	Missense_Mutation	SNP	G	TCGA-B1-A47O-01A-11D-A25F-10		24720193	26584373	28	14322											
SNIP1	79753	hgsc.bcm.edu	37	1	38005993	38005993	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:38005993C>G	ENST00000296215.6	-	3	763	c.691G>C	c.(691-693)Gca>Cca	p.A231P	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	231					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TCAAGAAGTGCCCCAGAAAGT	0.502																																																0													66	69	68					1																	38005993		2203	4300	6503	SO:0001583	missense	79753				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.691G>C	chr1.hg19:g.38005993C>G	ENSP00000296215:p.Ala231Pro		Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	hg19	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162524	0.94727	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.51071	0.72	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	M	0.87682	2.9	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.72931	-0.4142	10	0.39692	T	0.17	-4.7851	20.1865	0.98220	0.0:1.0:0.0:0.0	.	231	Q8TAD8	SNIP1_HUMAN	P	231;215	ENSP00000296215:A231P	ENSP00000296215:A231P	A	-	1	0	SNIP1	37778580	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.775000	0.95449	0.655000	0.94253	GCA		0.502	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		G	38005993	C	G	38005993	3	3	236	1	0	0	0	0	1	0	0	0	14854	739	26	4	507	4	SNIP1	1	38005993	Missense_Mutation	SNP	C	TCGA-B1-A654-01A-11D-A31X-10		38005993	211244628	1	14323											
FCGR1B	2210	hgsc.bcm.edu	37	1	120927211	120927212	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:120927211_120927212delGC	ENST00000369384.4	-	5	810_811	c.768_769delGC	c.(766-771)gagctgfs	p.EL256fs	RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000472543.1_5'Flank|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000369383.4_Frame_Shift_Del_p.EL164fs	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	256					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)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	TGACATTTCAGCTCTTCTTCTA	0.465																																																0																																										SO:0001589	frameshift_variant	2210				CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3614	protein-coding gene	gene with protein product		601502	"Fc fragment of IgG, high affinity Ib, receptor for (CD64)"			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.768_769delGC	chr1.hg19:g.120927211_120927212delGC	ENSP00000358391:p.Glu256fs		Q7KZ13|Q92638	Frame_Shift_Del	DEL	ENST00000369384.4	hg19	CCDS30821.1																																																																																				0.465	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1			-	120927212	GC	-	120927211	7	5	236	1	0	1	0	1	0	0	0	0	5782	962	34	0	77	0	FCGR1B	1	120927211	Frame_Shift_Del	DEL	GC	TCGA-B1-A654-01A-11D-A31X-10	82921218	120927211	128323410	2	14324											
FCGR1A	2209	hgsc.bcm.edu	37	1	149762998	149762999	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:149762998_149762999delGC	ENST00000369168.4	+	6	1104_1105	c.1050_1051delGC	c.(1048-1053)gagctgfs	p.EL350fs	RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	350					antibody-dependent cellular cytotoxicity (GO:0001788)|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)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TAGAAGAAGAGCTGAAATGTCA	0.475																																																0																																										SO:0001589	frameshift_variant	2209			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3613	protein-coding gene	gene with protein product		146760	"Fc fragment of IgG, high affinity Ia, receptor for (CD64)"			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.1050_1051delGC	chr1.hg19:g.149762998_149762999delGC	ENSP00000358165:p.Glu350fs		P12315|Q5QNW7|Q92495|Q92663	Frame_Shift_Del	DEL	ENST00000369168.4	hg19	CCDS933.1																																																																																				0.475	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		-	149762999	GC	-	149762998	7	5	236	1	0	1	0	1	0	0	0	0	5781	962	34	0	1072	0	FCGR1A	1	149762998	Frame_Shift_Del	DEL	GC	TCGA-B1-A654-01A-11D-A31X-10	28835787	149762998	99487623	3	14325											
CRTC2	200186	hgsc.bcm.edu	37	1	153926765	153926765	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:153926765A>G	ENST00000368633.1	-	4	527	c.400T>C	c.(400-402)Tac>Cac	p.Y134H	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	134					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGATAAGTAGGCAGGACTA	0.512																																																0													61	54	56					1																	153926765		2203	4300	6503	SO:0001583	missense	200186			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.400T>C	chr1.hg19:g.153926765A>G	ENSP00000357622:p.Tyr134His		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	hg19	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253357	0.80135	.	.	ENSG00000160741	ENST00000368633	T	0.38240	1.15	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.26702	0.0653	M	0.66297	2.02	0.40914	D	0.984258	P	0.38020	0.615	B	0.40134	0.32	T	0.16453	-1.0402	10	0.54805	T	0.06	-12.6013	10.82	0.46599	1.0:0.0:0.0:0.0	.	134	Q53ET0	CRTC2_HUMAN	H	134	ENSP00000357622:Y134H	ENSP00000357622:Y134H	Y	-	1	0	CRTC2	152193389	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.516000	0.73755	2.065000	0.61736	0.397000	0.26171	TAC		0.512	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		G	153926765	A	G	153926765	3	3	236	1	0	0	0	0	1	0	0	0	3902	420	15	3	1725	3	CRTC2	1	153926765	Missense_Mutation	SNP	A	TCGA-B1-A654-01A-11D-A31X-10	4163767	153926765	95323856	4	14326											
C1orf27	54953	hgsc.bcm.edu	37	1	186355194	186355194	+	Silent	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr1:186355194T>C	ENST00000287859.6	+	4	434	c.309T>C	c.(307-309)gaT>gaC	p.D103D	C1orf27_ENST00000432021.3_Silent_p.D103D|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000367470.3_Silent_p.D103D	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	103						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TGGCAAATGATTTTCAAAATG	0.289																																																0													46	44	44					1																	186355194		1786	4058	5844	SO:0001819	synonymous_variant	54953			BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.309T>C	chr1.hg19:g.186355194T>C			B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Silent	SNP	ENST00000287859.6	hg19	CCDS53448.1																																																																																				0.289	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		C	186355194	T	C	186355194	2	2	236	1	0	0	0	0	0	0	0	1	2038	1490	52	3		3	C1orf27	1	186355194	Silent	SNP	T	TCGA-B1-A654-01A-11D-A31X-10	32428429	186355194	62895427	5	14327											
ERCC3	2071	hgsc.bcm.edu	37	2	128051097	128051097	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr2:128051097G>T	ENST00000285398.2	-	2	320	c.226C>A	c.(226-228)Ctc>Atc	p.L76I	ERCC3_ENST00000493187.2_Missense_Mutation_p.L12I	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	76					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACCACCCAGAGGGGCCTGGAG	0.572			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"		E	0													71	63	66					2																	128051097		2203	4300	6503	SO:0001583	missense	2071	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.226C>A	chr2.hg19:g.128051097G>T	ENSP00000285398:p.Leu76Ile		Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	hg19	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575903	0.86645	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.77877	-1.13;-1.13	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	L	0.39020	1.185	0.80722	D	1	B;P	0.36465	0.177;0.554	P;P	0.45946	0.498;0.498	T	0.75303	-0.3365	10	0.33141	T	0.24	-17.9364	17.1634	0.86809	0.0:0.0:1.0:0.0	.	76;76	A8K359;P19447	.;ERCC3_HUMAN	I	76;12	ENSP00000285398:L76I;ENSP00000444796:L12I	ENSP00000285398:L76I	L	-	1	0	ERCC3	127767567	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.997000	0.76270	2.277000	0.76020	0.563000	0.77884	CTC		0.572	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		T	128051097	G	T	128051097	3	4	236	1	0	0	0	0	1	0	0	0	5216	1000	35	4	2178	4	ERCC3	2	128051097	Missense_Mutation	SNP	G	TCGA-B1-A654-01A-11D-A31X-10		128051097	115148276	6	14328											
CHL1	10752	hgsc.bcm.edu	37	3	383612	383612	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr3:383612C>A	ENST00000256509.2	+	7	1168	c.526C>A	c.(526-528)Caa>Aaa	p.Q176K	CHL1_ENST00000397491.2_Missense_Mutation_p.Q176K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	578	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACACATCGAACAAGATGAAAG	0.378																																																0													70	64	66					3																	383612		2203	4300	6503	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.526C>A	chr3.hg19:g.383612C>A	ENSP00000256509:p.Gln176Lys		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	hg19	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654162	0.88056	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000435603	T;T;T	0.60672	1.1;1.1;0.17	5.43	5.43	0.79202	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	L	0.61387	1.9	0.80722	D	1	D;D;D	0.71674	0.989;0.98;0.998	P;P;D	0.91635	0.87;0.746;0.999	T	0.76337	-0.2996	10	0.87932	D	0	.	17.7511	0.88434	0.0:1.0:0.0:0.0	.	176;176;176	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	K	176	ENSP00000256509:Q176K;ENSP00000380628:Q176K;ENSP00000397445:Q176K	ENSP00000256509:Q176K	Q	+	1	0	CHL1	358612	1.000000	0.71417	0.957000	0.39632	0.774000	0.43823	6.928000	0.75846	2.696000	0.92011	0.591000	0.81541	CAA		0.378	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		A	383612	C	A	383612	3	1	236	1	0	0	0	0	1	0	0	0	3351	479	17	4	544	4	CHL1	3	383612	Missense_Mutation	SNP	C	TCGA-B1-A654-01A-11D-A31X-10		383612	197638818	7	14329											
FYCO1	79443	hgsc.bcm.edu	37	3	46000087	46000087	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr3:46000087G>C	ENST00000296137.2	-	13	3817	c.3612C>G	c.(3610-3612)taC>taG	p.Y1204*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.Y1204*|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1204					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCAGCAGTAGTAACAGAAGA	0.547																																																0													72	70	71					3																	46000087		2203	4300	6503	SO:0001587	stop_gained	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3612C>G	chr3.hg19:g.46000087G>C	ENSP00000296137:p.Tyr1204*		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Nonsense_Mutation	SNP	ENST00000296137.2	hg19	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	46	12.162409	0.99642	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	.	.	.	5.74	3.92	0.45320	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.7307	10.5363	0.45007	0.1343:0.0:0.8657:0.0	.	.	.	.	X	1204	.	.	Y	-	3	2	FYCO1	45975091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.280000	0.51677	2.709000	0.92574	0.655000	0.94253	TAC		0.547	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		C	46000087	G	C	46000087	4	2	236	1	0	0	0	0	0	1	0	0	6127	1024	36	4	848	4	FYCO1	3	46000087	Nonsense_Mutation	SNP	G	TCGA-B1-A654-01A-11D-A31X-10	45616475	46000087	152022343	8	14330											
CELSR3	1951	hgsc.bcm.edu	37	3	48699894	48699894	+	Silent	SNP	G	G	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr3:48699894G>A	ENST00000164024.4	-	1	454	c.174C>T	c.(172-174)ggC>ggT	p.G58G	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.G58G	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	58					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTAAGGCTCCGCCACCGATAT	0.682																																																0													21	26	25					3																	48699894		2117	4162	6279	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.174C>T	chr3.hg19:g.48699894G>A			O75092	Silent	SNP	ENST00000164024.4	hg19	CCDS2775.1																																																																																				0.682	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48699894	G	A	48699894	2	1	236	1	0	0	0	0	0	0	0	1	3225	1074	38	1		1	CELSR3	3	48699894	Silent	SNP	G	TCGA-B1-A654-01A-11D-A31X-10	2699807	48699894	149322536	9	14331											
FRMD4B	23150	hgsc.bcm.edu	37	3	69230503	69230503	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr3:69230503G>A	ENST00000398540.3	-	21	2481	c.2398C>T	c.(2398-2400)Ccg>Tcg	p.P800S	FRMD4B_ENST00000478263.1_Missense_Mutation_p.P452S|FRMD4B_ENST00000542259.1_Missense_Mutation_p.P746S	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	800					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGGAAGACGGTGGCTCCTGA	0.433																																																0													73	72	73					3																	69230503		1939	4143	6082	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2398C>T	chr3.hg19:g.69230503G>A	ENSP00000381549:p.Pro800Ser		Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	hg19	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152377	0.38021	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.86956	-2.19;-2.18	5.83	4.95	0.65309	.	0.224065	0.47455	D	0.000237	D	0.84813	0.5555	M	0.63843	1.955	0.09310	N	1	B;P	0.42203	0.058;0.773	B;B	0.35114	0.022;0.196	T	0.79351	-0.1839	10	0.72032	D	0.01	-1.8047	16.2232	0.82269	0.0:0.0:0.8659:0.1341	.	644;800	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	S	800;746;452	ENSP00000381549:P800S;ENSP00000437658:P746S	ENSP00000381549:P800S	P	-	1	0	FRMD4B	69313193	0.959000	0.32827	0.066000	0.19879	0.545000	0.35147	2.106000	0.41835	1.441000	0.47550	-0.293000	0.09583	CCG		0.433	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			A	69230503	G	A	69230503	3	1	236	1	0	0	0	0	1	0	0	0	6054	1261	44	2	718	2	FRMD4B	3	69230503	Missense_Mutation	SNP	G	TCGA-B1-A654-01A-11D-A31X-10	20530609	69230503	128791927	10	14332											
SERPINI2	5276	hgsc.bcm.edu	37	3	167189524	167189526	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr3:167189524_167189526delAAG	ENST00000476257.1	-	3	395_397	c.97_99delCTT	c.(97-99)cttdel	p.L33del	SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000264677.4_In_Frame_Del_p.L33del|SERPINI2_ENST00000461846.1_In_Frame_Del_p.L33del|SERPINI2_ENST00000471111.1_In_Frame_Del_p.L33del			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	33					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCTCTTGATAAAGATCCACTGCA	0.384																																																0																																										SO:0001651	inframe_deletion	5276			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.97_99delCTT	chr3.hg19:g.167189524_167189526delAAG	ENSP00000420621:p.Leu33del			In_Frame_Del	DEL	ENST00000476257.1	hg19	CCDS3200.1																																																																																				0.384	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		-	167189526	AAG	-	167189524	7	5	236	1	0	1	0	1	0	0	0	0	14125	1	1	0	1150	0	SERPINI2	3	167189524	In_Frame_Del	DEL	AAG	TCGA-B1-A654-01A-11D-A31X-10	97959021	167189524	30832906	11	14333											
ADD1	118	hgsc.bcm.edu	37	4	2930230	2930232	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr4:2930230_2930232delAAG	ENST00000398129.1	+	14	2214_2216	c.2194_2196delAAG	c.(2194-2196)aagdel	p.K734del	ADD1_ENST00000446856.1_In_Frame_Del_p.K734del|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000264758.7_In_Frame_Del_p.K765del|ADD1_ENST00000503455.2_3'UTR			P35611	ADDA_HUMAN	adducin 1 (alpha)	734	Interaction with calmodulin. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAAGAAGAGCAAGAAGAAGAGTG	0.616																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											0									,,,	2,4264		0,2,2131					,,,	5.2	1			63	0,8254		0,0,4127	no	utr-3,utr-3,coding,coding	ADD1	NM_176801.2,NM_014190.3,NM_014189.3,NM_001119.4	,,,	0,2,6258	A1A1,A1R,RR		0.0,0.0469,0.016	,,,	,,,		2,12518				SO:0001651	inframe_deletion	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.2194_2196delAAG	chr4.hg19:g.2930236_2930238delAAG	ENSP00000381197:p.Lys734del		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	In_Frame_Del	DEL	ENST00000398129.1	hg19	CCDS43205.1																																																																																				0.616	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		-	2930232	AAG	-	2930230	7	5	236	1	0	1	0	1	0	0	0	0	304	131	5	0	2379	0	ADD1	4	2930230	In_Frame_Del	DEL	AAG	TCGA-B1-A654-01A-11D-A31X-10		2930230	188224046	12	14334											
AFAP1	60312	hgsc.bcm.edu	37	4	7783233	7783233	+	Intron	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr4:7783233G>T	ENST00000360265.4	-	12	1765				AFAP1_ENST00000358461.2_Intron|AFAP1_ENST00000420658.1_Missense_Mutation_p.P551H|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.P551H			Q8N556	AFAP1_HUMAN	actin filament associated protein 1							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TCTGTCAGCAGGAGAGTAGCG	0.532																																																0													123	119	120					4																	7783233		692	1591	2283	SO:0001627	intron_variant	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1531-2630C>A	chr4.hg19:g.7783233G>T			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	hg19	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848151	0.91277	.	.	ENSG00000196526	ENST00000420658;ENST00000382543	T;T	0.16597	2.33;2.33	5.8	5.8	0.92144	.	.	.	.	.	T	0.21427	0.0516	L	0.36672	1.1	0.80722	D	1	D	0.61697	0.99	P	0.45946	0.498	T	0.00287	-1.1846	9	0.45353	T	0.12	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	551	E9PDT7	.	H	551	ENSP00000410689:P551H;ENSP00000371983:P551H	ENSP00000371983:P551H	P	-	2	0	AFAP1	7834133	1.000000	0.71417	0.588000	0.28705	0.985000	0.73830	7.463000	0.80869	2.744000	0.94065	0.655000	0.94253	CCT		0.532	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		T	7783233	G	T	7783233	1	4	236	0	1	0	0	0	0	0	0	0	353	1000	35	4		4	AFAP1	4	7783233	Intron	SNP	G	TCGA-B1-A654-01A-11D-A31X-10	4853003	7783233	183371043	13	14335											
CTNND2	1501	hgsc.bcm.edu	37	5	10992734	10992734	+	Missense_Mutation	SNP	C	C	T	rs367931998		TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr5:10992734C>T	ENST00000304623.8	-	19	3329	c.3140G>A	c.(3139-3141)cGg>cAg	p.R1047Q	CTNND2_ENST00000503622.1_Missense_Mutation_p.R710Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.R989Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R956Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.R614Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1047					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGCCTTTGCCGGTCCCTCTC	0.587																																																0													134	120	125					5																	10992734		2203	4300	6503	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3140G>A	chr5.hg19:g.10992734C>T	ENSP00000307134:p.Arg1047Gln		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	hg19	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691098	0.88735	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79554	-1.22;-1.28;-1.22;-1.25;-1.25	5.18	4.3	0.51218	.	0.063175	0.64402	D	0.000009	D	0.84497	0.5485	L	0.39245	1.2	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.993	D;D;P	0.70227	0.968;0.968;0.543	D	0.83914	0.0297	10	0.40728	T	0.16	-11.8165	14.9681	0.71210	0.1441:0.8559:0.0:0.0	.	710;639;1047	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	Q	1047;989;956;142;614;710	ENSP00000307134:R1047Q;ENSP00000352661:R989Q;ENSP00000426510:R956Q;ENSP00000391155:R614Q;ENSP00000426887:R710Q	ENSP00000307134:R1047Q	R	-	2	0	CTNND2	11045734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.337000	0.79256	1.159000	0.42565	0.650000	0.86243	CGG		0.587	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		T	10992734	C	T	10992734	3	4	236	1	0	0	0	0	1	0	0	0	4022	652	23	1	553	1	CTNND2	5	10992734	Missense_Mutation	SNP	C	TCGA-B1-A654-01A-11D-A31X-10		10992734	169922526	14	14336											
PCDHGC5	56097	hgsc.bcm.edu	37	5	140870632	140870633	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr5:140870632_140870633insT	ENST00000252087.1	+	1	1825_1826	c.1825_1826insT	c.(1825-1827)ctgfs	p.L609fs	PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	609	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTACTCACTGTTGCCACAG	0.619																																																0																																										SO:0001589	frameshift_variant	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1826dupT	chr5.hg19:g.140870633_140870633dupT	ENSP00000252087:p.Leu609fs		Q9Y5C2	Frame_Shift_Ins	INS	ENST00000252087.1	hg19	CCDS4263.1																																																																																				0.619	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		T	140870633	-	T	140870632	7	5	236	1	0	1	1	0	0	0	0	0	11573	564	20	0	1827	0	PCDHGC5	5	140870632	Frame_Shift_Ins	INS	-	TCGA-B1-A654-01A-11D-A31X-10	129877898	140870632	40044628	15	14337											
LARS	51520	hgsc.bcm.edu	37	5	145547749	145547751	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr5:145547749_145547751delTCC	ENST00000394434.2	-	5	538_540	c.372_374delGGA	c.(370-375)gaggaa>gaa	p.124_125EE>E	LARS_ENST00000545646.1_Intron|LARS_ENST00000510191.1_In_Frame_Del_p.70_71EE>E|LARS_ENST00000511505.1_Intron|LARS_ENST00000274562.9_In_Frame_Del_p.97_98EE>E	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	124					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ACTGGTTTCTTCCTCTTCCTCTT	0.33																																																0																																										SO:0001651	inframe_deletion	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.372_374delGGA	chr5.hg19:g.145547749_145547751delTCC	ENSP00000377954:p.Glu126del		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	In_Frame_Del	DEL	ENST00000394434.2	hg19	CCDS34265.1																																																																																				0.33	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		-	145547751	TCC	-	145547749	7	5	236	1	0	1	0	1	0	0	0	0	8636	1783	62	0	3268	0	LARS	5	145547749	In_Frame_Del	DEL	TCC	TCGA-B1-A654-01A-11D-A31X-10	4677117	145547749	35367511	16	14338											
MEOX2	4223	hgsc.bcm.edu	37	7	15725800	15725800	+	Silent	SNP	G	G	A	rs113582077	byFrequency	TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr7:15725800G>A	ENST00000262041.5	-	1	637	c.228C>T	c.(226-228)caC>caT	p.H76H	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	76	Poly-His.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.H80delH(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ggtggtgatggtggtggtggt	0.612																																					Esophageal Squamous(140;197 1769 16409 18257 29929)											1	Deletion - In frame(1)	stomach(1)											11	13	13					7																	15725800		2192	4293	6485	SO:0001819	synonymous_variant	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.228C>T	chr7.hg19:g.15725800G>A			B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	hg19	CCDS34605.1																																																																																				0.612	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		A	15725800	G	A	15725800	2	1	236	1	0	0	0	0	0	0	0	1	9476	1252	44	2		2	MEOX2	7	15725800	Silent	SNP	G	TCGA-B1-A654-01A-11D-A31X-10		15725800	143412863	17	14339											
DFNA5	1687	hgsc.bcm.edu	37	7	24784199	24784199	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr7:24784199A>T	ENST00000342947.3	-	3	811	c.386T>A	c.(385-387)aTc>aAc	p.I129N	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.I129N|DFNA5_ENST00000419307.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	129					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AGAGTCTCTGATGAGCTGCTG	0.507																																					GBM(78;184 1250 20134 20900 23600)											0													119	115	116					7																	24784199		2203	4300	6503	SO:0001583	missense	1687			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.386T>A	chr7.hg19:g.24784199A>T	ENSP00000339587:p.Ile129Asn		A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	hg19	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361849	0.61403	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.21932	1.98;1.98	5.59	5.59	0.84812	.	0.432748	0.26662	N	0.023150	T	0.42966	0.1226	M	0.67953	2.075	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.63283	0.913;0.913	T	0.22730	-1.0208	10	0.45353	T	0.12	-8.2661	15.7667	0.78131	1.0:0.0:0.0:0.0	.	129;129	A4FTY0;O60443	.;DFNA5_HUMAN	N	129	ENSP00000339587:I129N;ENSP00000386670:I129N	ENSP00000339587:I129N	I	-	2	0	DFNA5	24750724	1.000000	0.71417	0.742000	0.31022	0.252000	0.25951	5.678000	0.68153	2.138000	0.66242	0.528000	0.53228	ATC		0.507	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		T	24784199	A	T	24784199	3	4	236	1	0	0	0	0	1	0	0	0	4456	333	12	5	1136	5	DFNA5	7	24784199	Missense_Mutation	SNP	A	TCGA-B1-A654-01A-11D-A31X-10	9058399	24784199	134354464	18	14340											
POR	5447	hgsc.bcm.edu	37	7	75615290	75615290	+	Silent	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr7:75615290T>C	ENST00000461988.1	+	14	1824	c.1719T>C	c.(1717-1719)gaT>gaC	p.D573D	POR_ENST00000419840.1_Intron|POR_ENST00000450476.1_Silent_p.D472D|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA|POR_ENST00000394893.1_Silent_p.D573D|POR_ENST00000439269.1_Silent_p.D311D|POR_ENST00000545601.1_Silent_p.D381D	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	570					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GCCGCTCGGATGAGGACTACC	0.692																																																0													11	17	15					7																	75615290		1973	4109	6082	SO:0001819	synonymous_variant	5447			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1719T>C	chr7.hg19:g.75615290T>C			Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Silent	SNP	ENST00000461988.1	hg19	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	T	6.335	0.429939	0.11987	.	.	ENSG00000127948	ENST00000447222	.	.	.	3.59	-1.16	0.09678	.	.	.	.	.	.	.	.	.	.	.	0.41802	D	0.989923	.	.	.	.	.	.	.	.	.	.	.	.	.	-26.2896	4.2567	0.10721	0.1605:0.2767:0.0:0.5628	.	.	.	.	R	624	.	.	X	+	1	0	POR	75453226	0.000000	0.05858	0.885000	0.34714	0.753000	0.42808	-2.270000	0.01167	-0.213000	0.10094	-0.496000	0.04628	TGA		0.692	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		C	75615290	T	C	75615290	2	2	236	1	0	0	0	0	0	0	0	1	12259	1461	51	3		3	POR	7	75615290	Silent	SNP	T	TCGA-B1-A654-01A-11D-A31X-10	50831091	75615290	83523373	19	14341											
PTCD1	26024	hgsc.bcm.edu	37	7	99022430	99022430	+	Silent	SNP	G	G	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr7:99022430G>A	ENST00000292478.4	-	6	1975	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.L624L|PTCD1_ENST00000555673.1_Silent_p.L624L	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	575					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCATGTCTGTGAGAAGCTGTA	0.612																																																0													52	53	53					7																	99022430		2203	4300	6503	SO:0001819	synonymous_variant	100526740			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1725C>T	chr7.hg19:g.99022430G>A			Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	hg19	CCDS34691.1																																																																																				0.612	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		A	99022430	G	A	99022430	2	1	236	1	0	0	0	0	0	0	0	1	12732	1277	45	2		2	PTCD1	7	99022430	Silent	SNP	G	TCGA-B1-A654-01A-11D-A31X-10	23407140	99022430	60116233	20	14342											
CTSB	1508	hgsc.bcm.edu	37	8	11705226	11705226	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr8:11705226G>T	ENST00000353047.6	-	7	891	c.638C>A	c.(637-639)cCt>cAt	p.P213H	CTSB_ENST00000415599.2_3'UTR|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000453527.2_Missense_Mutation_p.P213H|CTSB_ENST00000345125.3_Missense_Mutation_p.P213H|CTSB_ENST00000533455.1_Missense_Mutation_p.P213H|CTSB_ENST00000534510.1_Missense_Mutation_p.P213H|CTSB_ENST00000530640.2_Missense_Mutation_p.P213H|CTSB_ENST00000525076.1_5'Flank|CTSB_ENST00000531089.1_Missense_Mutation_p.P213H|CTSB_ENST00000434271.1_Missense_Mutation_p.P213H	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	213					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GCTGTAGCCAGGCTCACAGAT	0.647																																																0													109	104	105					8																	11705226		2203	4300	6503	SO:0001583	missense	1508			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"Cathepsins"	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.638C>A	chr8.hg19:g.11705226G>T	ENSP00000345672:p.Pro213His		B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	hg19	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493396	0.44352	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328	D;D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.17	3.16	0.36331	Peptidase C1A, papain C-terminal (2);	0.662303	0.15592	N	0.254378	D	0.90765	0.7101	M	0.76838	2.35	0.45295	D	0.99829	D;P;P;D;D	0.60575	0.988;0.73;0.85;0.988;0.985	P;P;P;P;P	0.56163	0.752;0.512;0.512;0.723;0.793	D	0.90644	0.4577	10	0.52906	T	0.07	.	12.4013	0.55414	0.0:0.0:0.6427:0.3573	.	150;213;119;213;150	B3KUJ8;A8K2H4;B4DMY4;P07858;F5H2P9	.;.;.;CATB_HUMAN;.	H	213;150;213;213;213;213;213;213;213;119	ENSP00000415889:P213H;ENSP00000345672:P213H;ENSP00000435105:P213H;ENSP00000433215:P213H;ENSP00000409917:P213H;ENSP00000342070:P213H;ENSP00000432244:P213H;ENSP00000434217:P213H	ENSP00000342070:P213H	P	-	2	0	CTSB	11742635	0.137000	0.22531	0.501000	0.27601	0.244000	0.25665	2.483000	0.45233	2.397000	0.81536	0.561000	0.74099	CCT		0.647	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		T	11705226	G	T	11705226	3	4	236	1	0	0	0	0	1	0	0	0	4032	1000	35	4	397	4	CTSB	8	11705226	Missense_Mutation	SNP	G	TCGA-B1-A654-01A-11D-A31X-10		11705226	134658796	21	14343											
DCAF4L2	138009	hgsc.bcm.edu	37	8	88885869	88885869	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr8:88885869C>G	ENST00000319675.3	-	1	427	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	111										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACCCGGAGCTCAGGGGTCGTC	0.542																																																0													138	133	135					8																	88885869		2203	4300	6503	SO:0001583	missense	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.331G>C	chr8.hg19:g.88885869C>G	ENSP00000316496:p.Glu111Gln			Missense_Mutation	SNP	ENST00000319675.3	hg19	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247732	0.22880	.	.	ENSG00000176566	ENST00000319675	T	0.61510	0.1	1.39	0.34	0.15985	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.699660	0.15847	N	0.241732	T	0.38480	0.1042	L	0.29908	0.895	0.09310	N	1	P	0.37330	0.59	B	0.33846	0.171	T	0.22452	-1.0216	10	0.72032	D	0.01	.	6.1683	0.20402	0.3004:0.6996:0.0:0.0	.	111	Q8NA75	DC4L2_HUMAN	Q	111	ENSP00000316496:E111Q	ENSP00000316496:E111Q	E	-	1	0	DCAF4L2	88954985	0.999000	0.42202	0.001000	0.08648	0.010000	0.07245	1.840000	0.39230	-0.115000	0.11915	0.467000	0.42956	GAG		0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		G	88885869	C	G	88885869	3	3	236	1	0	0	0	0	1	0	0	0	4274	835	29	4	860	4	DCAF4L2	8	88885869	Missense_Mutation	SNP	C	TCGA-B1-A654-01A-11D-A31X-10	77180643	88885869	57478153	22	14344											
PHYHIPL	84457	hgsc.bcm.edu	37	10	60936661	60936661	+	Silent	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr10:60936661C>A	ENST00000373880.4	+	1	312	c.48C>A	c.(46-48)ccC>ccA	p.P16P	PHYHIPL_ENST00000373878.3_5'Flank|PHYHIPL_ENST00000433653.1_Silent_p.P16P	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	16						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CCACCAGCCCCTGTGAGGAGG	0.627																																																0													64	58	60					10																	60936661		2203	4300	6503	SO:0001819	synonymous_variant	84457			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.48C>A	chr10.hg19:g.60936661C>A			B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Silent	SNP	ENST00000373880.4	hg19	CCDS7254.1																																																																																				0.627	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		A	60936661	C	A	60936661	2	1	236	1	0	0	0	0	0	0	0	1	11869	668	24	4		4	PHYHIPL	10	60936661	Silent	SNP	C	TCGA-B1-A654-01A-11D-A31X-10		60936661	74598086	23	14345											
MRPL11	65003	hgsc.bcm.edu	37	11	66204727	66204727	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr11:66204727C>G	ENST00000310999.7	-	4	414	c.321G>C	c.(319-321)gaG>gaC	p.E107D	MRPL11_ENST00000329819.4_Missense_Mutation_p.E107D|MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000430466.2_Missense_Mutation_p.E81D	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	107					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						GGCCTGCCACCTCTTTCCCTG	0.547																																																0													82	76	78					11																	66204727		2200	4295	6495	SO:0001583	missense	65003			AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"Mitochondrial ribosomal proteins / large subunits"	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.321G>C	chr11.hg19:g.66204727C>G	ENSP00000308897:p.Glu107Asp		A6NLT0|A8K219|Q32P46|Q96Q73	Missense_Mutation	SNP	ENST00000310999.7	hg19	CCDS8139.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399495	0.62177	.	.	ENSG00000174547	ENST00000310999;ENST00000430466;ENST00000329819	.	.	.	5.79	1.92	0.25849	Ribosomal protein L11, C-terminal (3);	0.099158	0.64402	D	0.000002	T	0.61123	0.2322	L	0.45352	1.415	0.58432	D	0.999993	D;D;D	0.71674	0.993;0.995;0.998	D;D;D	0.71184	0.953;0.962;0.972	T	0.54649	-0.8262	9	0.27785	T	0.31	-33.3697	7.3258	0.26555	0.0:0.5948:0.0:0.4052	.	81;107;107	Q9Y3B7-2;Q9Y3B7;A6NLT0	.;RM11_HUMAN;.	D	107;81;107	.	ENSP00000308897:E107D	E	-	3	2	MRPL11	65961303	0.998000	0.40836	1.000000	0.80357	0.858000	0.48976	0.534000	0.23098	0.384000	0.24942	-0.123000	0.14984	GAG		0.547	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393098.2	NM_016050		G	66204727	C	G	66204727	3	3	236	1	0	0	0	0	1	0	0	0	9778	680	24	4	342	4	MRPL11	11	66204727	Missense_Mutation	SNP	C	TCGA-B1-A654-01A-11D-A31X-10		66204727	68801789	24	14346											
SRGAP1	57522	hgsc.bcm.edu	37	12	64377795	64377795	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr12:64377795C>T	ENST00000355086.3	+	2	660	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F	SRGAP1_ENST00000543397.1_Missense_Mutation_p.L6F|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L46F	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	46	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGTTCAGCTTCTCCAGGATCT	0.428																																																0													105	110	108					12																	64377795		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.136C>T	chr12.hg19:g.64377795C>T	ENSP00000347198:p.Leu46Phe		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	hg19	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872961	0.91664	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.24151	1.87;1.87;1.87	5.1	5.1	0.69264	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.31760	U	0.007120	T	0.53190	0.1781	M	0.74389	2.26	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.996;0.994;0.997	T	0.52381	-0.8583	9	.	.	.	.	18.9008	0.92442	0.0:1.0:0.0:0.0	.	46;6;46	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	F	46;46;6	ENSP00000347198:L46F;ENSP00000350480:L46F;ENSP00000437948:L6F	.	L	+	1	0	SRGAP1	62664062	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.755000	0.85180	2.548000	0.85928	0.585000	0.79938	CTC		0.428	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			T	64377795	C	T	64377795	3	4	236	1	0	0	0	0	1	0	0	0	15150	913	32	2	142	2	SRGAP1	12	64377795	Missense_Mutation	SNP	C	TCGA-B1-A654-01A-11D-A31X-10		64377795	69474100	25	14347											
ARL1	400	hgsc.bcm.edu	37	12	101799660	101799660	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr12:101799660T>C	ENST00000261636.8	-	2	278	c.104A>G	c.(103-105)tAc>tGc	p.Y35C	ARL1_ENST00000536227.1_Missense_Mutation_p.Y18C|RP11-321F8.4_ENST00000547360.1_lincRNA|ARL1_ENST00000551828.1_Missense_Mutation_p.Y18C|ARL1_ENST00000549302.1_5'UTR|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000539055.1_Intron|ARL1_ENST00000551671.1_Missense_Mutation_p.Y35C	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	35					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		TTGTAATCTGTACAAAATTGT	0.368																																																0													82	73	76					12																	101799660		1850	4074	5924	SO:0001583	missense	400			BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"ADP-ribosylation factors-like", "ADP-ribosylation factors"	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.104A>G	chr12.hg19:g.101799660T>C	ENSP00000261636:p.Tyr35Cys		B4DWW1|P80417|Q53XB1	Missense_Mutation	SNP	ENST00000261636.8	hg19	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691681	0.88735	.	.	ENSG00000120805	ENST00000261636;ENST00000536227;ENST00000551828;ENST00000551671	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.79	5.79	0.91817	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95069	0.8403	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.97048	0.9762	10	0.72032	D	0.01	-8.9448	16.1803	0.81892	0.0:0.0:0.0:1.0	.	35;35	F8VYN9;P40616	.;ARL1_HUMAN	C	35;18;18;35	ENSP00000261636:Y35C;ENSP00000441808:Y18C;ENSP00000448850:Y18C;ENSP00000448912:Y35C	ENSP00000261636:Y35C	Y	-	2	0	ARL1	100323791	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.930000	0.87610	2.229000	0.72834	0.524000	0.50904	TAC		0.368	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177		C	101799660	T	C	101799660	3	2	236	1	0	0	0	0	1	0	0	0	925	1638	57	3	461	3	ARL1	12	101799660	Missense_Mutation	SNP	T	TCGA-B1-A654-01A-11D-A31X-10	37421865	101799660	32052235	26	14348											
USP30	84749	hgsc.bcm.edu	37	12	109490532	109490532	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr12:109490532A>T	ENST00000257548.5	+	1	142	c.49A>T	c.(49-51)Atc>Ttc	p.I17F	USP30_ENST00000392784.2_Intron|USP30-AS1_ENST00000478808.2_RNA	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	17					mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CGACAGGGCCATCCAGCGCTT	0.741																																																0													6	7	7					12																	109490532		1633	3539	5172	SO:0001583	missense	84749			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.49A>T	chr12.hg19:g.109490532A>T	ENSP00000257548:p.Ile17Phe		Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	hg19	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071460	0.76301	.	.	ENSG00000135093	ENST00000257548;ENST00000536393	T	0.36699	1.24	4.83	-3.67	0.04476	.	0.525534	0.20286	N	0.095347	T	0.17746	0.0426	N	0.14661	0.345	0.36723	D	0.881283	B	0.02656	0.0	B	0.01281	0.0	T	0.03394	-1.1041	10	0.62326	D	0.03	-15.0275	9.4412	0.38670	0.2273:0.6458:0.0:0.1269	.	17	Q70CQ3	UBP30_HUMAN	F	17	ENSP00000257548:I17F	ENSP00000257548:I17F	I	+	1	0	USP30	107974915	0.830000	0.29337	0.983000	0.44433	0.992000	0.81027	-0.415000	0.07106	-0.293000	0.08986	0.482000	0.46254	ATC		0.741	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		T	109490532	A	T	109490532	3	4	236	1	0	0	0	0	1	0	0	0	17066	217	8	5	51	5	USP30	12	109490532	Missense_Mutation	SNP	A	TCGA-B1-A654-01A-11D-A31X-10	7690872	109490532	24361363	27	14349											
BRCA2	90634	hgsc.bcm.edu	37	13	32972588	32972588	+	IGR	SNP	A	A	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr13:32972588A>C	ENST00000380130.2	-	0	3046				BRCA2_ENST00000544455.1_Missense_Mutation_p.K3313T|BRCA2_ENST00000380152.3_Missense_Mutation_p.K3313T	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		ACACCCATAAAGAAAAAAGAA	0.393																																																0													69	72	71					13																	32972588		2203	4300	6503	SO:0001628	intergenic_variant	675			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		chr13.hg19:g.32972588A>C			A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	hg19	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166079	0.57476	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00816	5.66;5.66	5.19	1.43	0.22495	.	0.585853	0.16656	N	0.205002	T	0.02688	0.0081	L	0.55834	1.745	0.29155	N	0.87815	D	0.71674	0.998	P	0.62560	0.904	T	0.30446	-0.9978	10	0.51188	T	0.08	.	8.9414	0.35731	0.7861:0.0:0.2139:0.0	.	3313	P51587	BRCA2_HUMAN	T	3313	ENSP00000369497:K3313T;ENSP00000439902:K3313T	ENSP00000369497:K3313T	K	+	2	0	BRCA2	31870588	0.216000	0.23585	0.108000	0.21378	0.601000	0.36947	2.044000	0.41241	0.111000	0.17947	0.383000	0.25322	AAG		0.393	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		C	32972588	A	C	32972588	1	2	236	0	1	0	0	0	0	0	0	0	1501	72	3	5		5	BRCA2	13	32972588	IGR	SNP	A	TCGA-B1-A654-01A-11D-A31X-10		32972588	82197290	28	14350											
SPRY2	10253	hgsc.bcm.edu	37	13	80911824	80911824	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr13:80911824T>C	ENST00000377102.1	-	2	994	c.17A>G	c.(16-18)cAg>cGg	p.Q6R	SPRY2_ENST00000540649.1_Missense_Mutation_p.Q6R|SPRY2_ENST00000377104.3_Missense_Mutation_p.Q6R			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	6					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GTTGCCACTCTGAGCTCTGGC	0.602																																																0													36	39	38					13																	80911824		2203	4300	6503	SO:0001583	missense	10253			AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.17A>G	chr13.hg19:g.80911824T>C	ENSP00000366306:p.Gln6Arg		B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	hg19	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690500	0.68271	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.57273	0.41;0.41;0.41	5.2	5.2	0.72013	.	0.258022	0.39687	N	0.001300	T	0.58380	0.2118	M	0.70275	2.135	0.58432	D	0.999996	P	0.51791	0.948	P	0.45610	0.487	T	0.66408	-0.5931	10	0.87932	D	0	2.2461	15.1453	0.72647	0.0:0.0:0.0:1.0	.	6	O43597	SPY2_HUMAN	R	6	ENSP00000366308:Q6R;ENSP00000366306:Q6R;ENSP00000439027:Q6R	ENSP00000366306:Q6R	Q	-	2	0	SPRY2	79809825	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.437000	0.80417	1.989000	0.58080	0.529000	0.55759	CAG		0.602	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			C	80911824	T	C	80911824	3	2	236	1	0	0	0	0	1	0	0	0	15111	1580	55	3	934	3	SPRY2	13	80911824	Missense_Mutation	SNP	T	TCGA-B1-A654-01A-11D-A31X-10	47939236	80911824	34258054	29	14351											
ITPK1	3705	hgsc.bcm.edu	37	14	93408247	93408247	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr14:93408247A>T	ENST00000267615.6	-	11	1077	c.904T>A	c.(904-906)Tac>Aac	p.Y302N	ITPK1_ENST00000556603.2_Missense_Mutation_p.Y302N|ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000555495.1_Missense_Mutation_p.Y183N			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	302	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		ACGCCCTCGTAGCCTGGGGGT	0.652																																																0													19	15	17					14																	93408247		2087	4121	6208	SO:0001583	missense	3705			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.904T>A	chr14.hg19:g.93408247A>T	ENSP00000267615:p.Tyr302Asn		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	hg19	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272145	0.80469	.	.	ENSG00000100605	ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	.	.	.	4.59	4.59	0.56863	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.79764	0.4502	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83445	0.0045	9	0.87932	D	0	-1.445	13.993	0.64378	1.0:0.0:0.0:0.0	.	302	Q13572	ITPK1_HUMAN	N	332;302;183;302;302	.	ENSP00000267615:Y302N	Y	-	1	0	ITPK1	92478000	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.912000	0.92726	1.717000	0.51406	0.460000	0.39030	TAC		0.652	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		T	93408247	A	T	93408247	3	4	236	1	0	0	0	0	1	0	0	0	7918	420	15	5	392	5	ITPK1	14	93408247	Missense_Mutation	SNP	A	TCGA-B1-A654-01A-11D-A31X-10		93408247	13941293	30	14352											
WDR20	91833	hgsc.bcm.edu	37	14	102675840	102675840	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr14:102675840A>G	ENST00000342702.3	+	3	1364	c.1333A>G	c.(1333-1335)Agc>Ggc	p.S445G	WDR20_ENST00000424963.2_Missense_Mutation_p.S321G|WDR20_ENST00000499851.2_Missense_Mutation_p.S188G|WDR20_ENST00000454394.2_Missense_Mutation_p.S476G|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.S384G|WDR20_ENST00000556511.2_Missense_Mutation_p.S384G|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000335263.5_Missense_Mutation_p.S445G|WDR20_ENST00000545563.1_Missense_Mutation_p.S272G	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	445										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						AAATGCTGGCAGCAAAAGCAG	0.532											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													101	103	102					14																	102675840		2203	4300	6503	SO:0001583	missense	91833			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"WD repeat domain containing"	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1333A>G	chr14.hg19:g.102675840A>G	ENSP00000341037:p.Ser445Gly	1368	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	hg19	CCDS9969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.709|6.709	0.499566|0.499566	0.12762|0.12762	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000556511|ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000499851;ENST00000454394;ENST00000401892;ENST00000545563	.|T;T;T;T;T;T;T	.|0.67698	.|-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.162599	.|0.64402	.|D	.|0.000002	T|T	0.56277|0.56277	0.1974|0.1974	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B;B	.|0.24882	.|0.001;0.113;0.001;0.0;0.0;0.043;0.0	.|B;B;B;B;B;B;B	.|0.24006	.|0.001;0.05;0.001;0.0;0.002;0.027;0.002	T|T	0.52087|0.52087	-0.8622|-0.8622	5|10	.|0.19590	.|T	.|0.45	.|.	16.0225|16.0225	0.80509|0.80509	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|476;457;384;445;384;321;445	.|E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3	.|.;.;.;.;.;.;WDR20_HUMAN	R|G	375|445;384;321;445;384;188;476;375;272	.|ENSP00000335434:S445G;ENSP00000395793:S321G;ENSP00000341037:S445G;ENSP00000450636:S384G;ENSP00000443641:S188G;ENSP00000406084:S476G;ENSP00000437927:S272G	.|ENSP00000299135:S384G	Q|S	+|+	2|1	0|0	WDR20|WDR20	101745593|101745593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	7.099000|7.099000	0.76981|0.76981	2.198000|2.198000	0.70561|0.70561	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.532	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		G	102675840	A	G	102675840	3	3	236	1	0	0	0	0	1	0	0	0	17285	188	7	3	1360	3	WDR20	14	102675840	Missense_Mutation	SNP	A	TCGA-B1-A654-01A-11D-A31X-10	9267593	102675840	4673700	31	14353											
GLCE	26035	hgsc.bcm.edu	37	15	69548696	69548696	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr15:69548696T>C	ENST00000261858.2	+	3	779	c.551T>C	c.(550-552)gTc>gCc	p.V184A	GLCE_ENST00000559420.2_Missense_Mutation_p.V120A	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	184					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						AATGTGGAAGTCCGAGACAGA	0.428																																																0													101	101	101					15																	69548696		2200	4297	6497	SO:0001583	missense	26035			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.551T>C	chr15.hg19:g.69548696T>C	ENSP00000261858:p.Val184Ala		Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	hg19	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246289	0.59103	.	.	ENSG00000138604	ENST00000261858	T	0.30714	1.52	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	M	0.79475	2.455	0.80722	D	1	B	0.22080	0.064	B	0.17722	0.019	T	0.20207	-1.0282	10	0.41790	T	0.15	-8.6789	14.1808	0.65574	0.0:0.0:0.0:1.0	.	184	O94923	GLCE_HUMAN	A	184	ENSP00000261858:V184A	ENSP00000261858:V184A	V	+	2	0	GLCE	67335750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.831000	0.86748	2.084000	0.62774	0.533000	0.62120	GTC		0.428	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		C	69548696	T	C	69548696	3	2	236	1	0	0	0	0	1	0	0	0	6434	1667	58	3	553	3	GLCE	15	69548696	Missense_Mutation	SNP	T	TCGA-B1-A654-01A-11D-A31X-10		69548696	32982696	32	14354											
MYO9A	4649	hgsc.bcm.edu	37	15	72190184	72190184	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr15:72190184C>G	ENST00000356056.5	-	25	5132	c.4660G>C	c.(4660-4662)Gta>Cta	p.V1554L	MYO9A_ENST00000566885.1_Missense_Mutation_p.V1174L|MYO9A_ENST00000444904.1_Missense_Mutation_p.V1535L|MYO9A_ENST00000424560.1_Missense_Mutation_p.V1554L|MYO9A_ENST00000564571.1_Missense_Mutation_p.V1554L|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1554	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGCCTCTCTACTCTTTGCTTT	0.423																																																0													76	66	70					15																	72190184		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4660G>C	chr15.hg19:g.72190184C>G	ENSP00000348349:p.Val1554Leu		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285329	0.23478	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.83992	-1.79;-1.79;-1.79	5.92	1.58	0.23477	.	.	.	.	.	T	0.66597	0.2805	L	0.27053	0.805	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.50583	-0.8811	9	0.30078	T	0.28	.	0.594	0.00733	0.2435:0.3197:0.1226:0.3143	.	1535;1554;1554	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	L	1554;1554;1535	ENSP00000348349:V1554L;ENSP00000399162:V1554L;ENSP00000398250:V1535L	ENSP00000348349:V1554L	V	-	1	0	MYO9A	69977238	0.001000	0.12720	0.003000	0.11579	0.983000	0.72400	0.281000	0.18810	0.024000	0.15214	0.650000	0.86243	GTA		0.423	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		G	72190184	C	G	72190184	3	3	236	1	0	0	0	0	1	0	0	0	10086	565	20	4	3058	4	MYO9A	15	72190184	Missense_Mutation	SNP	C	TCGA-B1-A654-01A-11D-A31X-10	2641488	72190184	30341208	33	14355											
TMEM202	338949	hgsc.bcm.edu	37	15	72698982	72698982	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr15:72698982T>A	ENST00000341689.3	+	3	431	c.377T>A	c.(376-378)gTc>gAc	p.V126D	TMEM202_ENST00000567679.1_Missense_Mutation_p.S41T	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	126						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTCATCTCTGTCTTTACCATA	0.468																																																0													180	160	167					15																	72698982		2199	4297	6496	SO:0001583	missense	338949				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.377T>A	chr15.hg19:g.72698982T>A	ENSP00000340212:p.Val126Asp			Missense_Mutation	SNP	ENST00000341689.3	hg19	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.990387	0.35131	.	.	ENSG00000187806	ENST00000341689	T	0.66815	-0.23	5.42	1.84	0.25277	.	1.663070	0.03249	N	0.181492	T	0.71459	0.3342	L	0.53249	1.67	0.09310	N	1	P	0.47191	0.891	P	0.51355	0.667	T	0.54214	-0.8327	10	0.87932	D	0	-26.7102	6.0845	0.19960	0.0:0.3095:0.0:0.6905	.	126	A6NGA9	TM202_HUMAN	D	126	ENSP00000340212:V126D	ENSP00000340212:V126D	V	+	2	0	TMEM202	70486036	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.033000	0.13754	0.514000	0.28300	0.533000	0.62120	GTC		0.468	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		A	72698982	T	A	72698982	3	1	236	1	0	0	0	0	1	0	0	0	16132	1667	58	5	387	5	TMEM202	15	72698982	Missense_Mutation	SNP	T	TCGA-B1-A654-01A-11D-A31X-10	508798	72698982	29832410	34	14356											
SCAMP5	192683	hgsc.bcm.edu	37	15	75309011	75309011	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr15:75309011G>T	ENST00000361900.6	+	5	421	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000562212.1_Missense_Mutation_p.G72C|SCAMP5_ENST00000425597.3_Missense_Mutation_p.G72C|SCAMP5_ENST00000568081.1_5'Flank	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	72					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CACCAACTTTGGCCTCGCCTT	0.602																																																0													138	140	139					15																	75309011		2150	4256	6406	SO:0001583	missense	192683			AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"Secretory carrier membrane proteins"	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.214G>T	chr15.hg19:g.75309011G>T	ENSP00000355387:p.Gly72Cys		B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	hg19	CCDS45306.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.024083	0.93462	.	.	ENSG00000198794	ENST00000361900;ENST00000425597	T;T	0.20332	2.08;2.08	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68194	-0.5473	10	0.87932	D	0	-0.2016	17.294	0.87164	0.0:0.0:1.0:0.0	.	72;72	Q8TAC9-2;Q8TAC9	.;SCAM5_HUMAN	C	72	ENSP00000355387:G72C;ENSP00000406547:G72C	ENSP00000355387:G72C	G	+	1	0	SCAMP5	73096064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.690000	0.98676	2.391000	0.81399	0.561000	0.74099	GGC		0.602	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		T	75309011	G	T	75309011	3	4	236	1	0	0	0	0	1	0	0	0	13880	1348	47	4	224	4	SCAMP5	15	75309011	Missense_Mutation	SNP	G	TCGA-B1-A654-01A-11D-A31X-10	2610029	75309011	27222381	35	14357											
RPS2	6187	hgsc.bcm.edu	37	16	2014483	2014484	+	In_Frame_Ins	INS	-	-	CGGCCT			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr16:2014483_2014484insCGGCCT	ENST00000343262.4	-	2	199_200	c.143_144insAGGCCG	c.(142-144)cgc>cgAGGCCGc	p.48_48R>RGR	SNORA10_ENST00000384084.1_RNA|SNORA64_ENST00000384674.1_RNA|RPS2_ENST00000526522.1_In_Frame_Ins_p.48_48R>RGR|SNHG9_ENST00000459373.1_lincRNA|RNF151_ENST00000569714.1_5'Flank|RNF151_ENST00000321392.3_5'Flank|RPS2_ENST00000529806.1_In_Frame_Ins_p.48_48R>RGR|RNF151_ENST00000569210.2_5'Flank|RPS2_ENST00000530225.1_In_Frame_Ins_p.48_48R>RGR	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	48	Arg/Gly-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CGCGAGCTCCGCGGCCTCGGCC	0.757																																																0																																										SO:0001652	inframe_insertion	6187			AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"S ribosomal proteins"	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.138_143dupAGGCCG	chr16.hg19:g.2014484_2014489dupCGGCCT	ENSP00000341885:p.GlyArg48dup		B2R5G0|D3DU82|Q3MIB1	In_Frame_Ins	INS	ENST00000343262.4	hg19	CCDS10452.1																																																																																				0.757	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		CGGCCT	2014484	-	CGGCCT	2014483	7	5	236	1	0	1	1	0	0	0	0	0	13637	1074	38	0	761	0	RPS2	16	2014483	In_Frame_Ins	INS	-	TCGA-B1-A654-01A-11D-A31X-10		2014483	88340270	36	14358											
LCAT	3931	hgsc.bcm.edu	37	16	67976796	67976796	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr16:67976796G>T	ENST00000264005.5	-	3	424	c.395C>A	c.(394-396)tCt>tAt	p.S132Y	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	132					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GTACTCCACAGAGTAGGTCTT	0.662																																																0													62	68	66					16																	67976796		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.395C>A	chr16.hg19:g.67976796G>T	ENSP00000264005:p.Ser132Tyr		Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	hg19	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685825	0.88639	.	.	ENSG00000213398	ENST00000264005	D	0.97161	-4.27	5.98	5.98	0.97165	.	0.138327	0.49916	U	0.000130	D	0.98573	0.9523	M	0.91920	3.255	0.46654	D	0.999148	D	0.52996	0.957	P	0.59171	0.853	D	0.99257	1.0889	10	0.87932	D	0	-13.366	18.0148	0.89236	0.0:0.0:1.0:0.0	.	132	P04180	LCAT_HUMAN	Y	132	ENSP00000264005:S132Y	ENSP00000264005:S132Y	S	-	2	0	LCAT	66534297	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.289000	0.96061	2.861000	0.98227	0.650000	0.86243	TCT		0.662	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			T	67976796	G	T	67976796	3	4	236	1	0	0	0	0	1	0	0	0	8660	942	33	4	943	4	LCAT	16	67976796	Missense_Mutation	SNP	G	TCGA-B1-A654-01A-11D-A31X-10	65962313	67976796	22377957	37	14359											
BCL6B	255877	hgsc.bcm.edu	37	17	6928020	6928031	+	In_Frame_Del	DEL	CAGCAGCAGCAG	CAGCAGCAGCAG	-	rs72254884|rs386385552		TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	CAGCAGCAGCAG	CAGCAGCAGCAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr17:6928020_6928031delCAGCAGCAGCAG	ENST00000293805.5	+	4	794_805	c.702_713delCAGCAGCAGCAG	c.(700-714)tccagcagcagcagc>tcc	p.234_238SSSSS>S		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	234	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						ACGAGGCCTCcagcagcagcagcagcagcagc	0.59																																																0																																										SO:0001651	inframe_deletion	255877			AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1002	protein-coding gene	gene with protein product		608992	"zinc finger protein 62", "B-cell CLL/lymphoma 6, member B (zinc finger protein)"	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.702_713delCAGCAGCAGCAG	chr17.hg19:g.6928020_6928031delCAGCAGCAGCAG	ENSP00000293805:p.Ser238_Ser241del		Q6PCB4	In_Frame_Del	DEL	ENST00000293805.5	hg19	CCDS42248.1																																																																																				0.59	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		-	6928031	CAGCAGCAGCAG	-	6928020	7	5	236	1	0	1	0	1	0	0	0	0	1377	581	21	0	712	0	BCL6B	17	6928020	In_Frame_Del	DEL	CAGCAGCAGCAG	TCGA-B1-A654-01A-11D-A31X-10		6928020	74267190	38	14360											
TMEM104	54868	hgsc.bcm.edu	37	17	72781730	72781730	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr17:72781730T>A	ENST00000335464.5	+	3	317	c.155T>A	c.(154-156)cTg>cAg	p.L52Q	TMEM104_ENST00000582330.1_Missense_Mutation_p.L52Q|TMEM104_ENST00000582773.1_Missense_Mutation_p.L52Q|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	52						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTGGTGTTCCTGGGCTTCATG	0.632																																																0													76	56	63					17																	72781730		2203	4300	6503	SO:0001583	missense	54868			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.155T>A	chr17.hg19:g.72781730T>A	ENSP00000334849:p.Leu52Gln		Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	hg19	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482735	0.84747	.	.	ENSG00000109066	ENST00000335464	T	0.02498	4.27	4.98	4.98	0.66077	.	0.074254	0.53938	D	0.000043	T	0.16769	0.0403	M	0.84585	2.705	0.80722	D	1	D;D	0.76494	0.966;0.999	P;D	0.71656	0.869;0.974	T	0.00624	-1.1639	10	0.72032	D	0.01	-10.1576	14.642	0.68732	0.0:0.0:0.0:1.0	.	52;52	Q8NE00-2;Q8NE00	.;TM104_HUMAN	Q	52	ENSP00000334849:L52Q	ENSP00000334849:L52Q	L	+	2	0	TMEM104	70293325	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.568000	0.82369	1.872000	0.54250	0.260000	0.18958	CTG		0.632	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		A	72781730	T	A	72781730	3	1	236	1	0	0	0	0	1	0	0	0	16023	1580	55	5	161	5	TMEM104	17	72781730	Missense_Mutation	SNP	T	TCGA-B1-A654-01A-11D-A31X-10	65853710	72781730	8413480	39	14361											
ACSBG2	81616	hgsc.bcm.edu	37	19	6165945	6165945	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr19:6165945delG	ENST00000586696.1	+	7	933	c.657delG	c.(655-657)cagfs	p.Q219fs	ACSBG2_ENST00000252669.5_Frame_Shift_Del_p.Q219fs|ACSBG2_ENST00000591403.1_Frame_Shift_Del_p.Q219fs|ACSBG2_ENST00000588485.1_Frame_Shift_Del_p.Q32fs|ACSBG2_ENST00000588304.1_Frame_Shift_Del_p.Q169fs|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	219					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGAGAGCCAGAAGGCGAATC	0.517											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													163	130	141					19																	6165945		2203	4300	6503	SO:0001589	frameshift_variant	81616				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.657delG	chr19.hg19:g.6165945delG	ENSP00000465589:p.Gln219fs	632	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Frame_Shift_Del	DEL	ENST00000586696.1	hg19	CCDS12159.1																																																																																				0.517	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		-	6165945	G	-	6165945	7	5	236	1	0	1	0	1	0	0	0	0	174	933	33	0	679	0	ACSBG2	19	6165945	Frame_Shift_Del	DEL	G	TCGA-B1-A654-01A-11D-A31X-10		6165945	52963038	40	14362											
ACER1	125981	hgsc.bcm.edu	37	19	6312214	6312214	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr19:6312214C>T	ENST00000301452.4	-	3	373	c.296G>A	c.(295-297)gGc>gAc	p.G99D		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	99					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						TATGCTATAGCCACTGCCCAG	0.607																																																0													59	51	54					19																	6312214		2203	4300	6503	SO:0001583	missense	125981			AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"Alkaline ceramidase"	18356	protein-coding gene	gene with protein product		613491	"N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.296G>A	chr19.hg19:g.6312214C>T	ENSP00000301452:p.Gly99Asp			Missense_Mutation	SNP	ENST00000301452.4	hg19	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	C	8.699	0.909265	0.17833	.	.	ENSG00000167769	ENST00000301452	T	0.42900	0.96	5.13	0.47	0.16747	.	0.527539	0.21637	N	0.071397	T	0.37210	0.0995	M	0.73598	2.24	0.22851	N	0.998658	P	0.42518	0.782	B	0.39503	0.301	T	0.32561	-0.9902	10	0.72032	D	0.01	-15.663	4.4791	0.11759	0.278:0.5108:0.1345:0.0768	.	99	Q8TDN7	ACER1_HUMAN	D	99	ENSP00000301452:G99D	ENSP00000301452:G99D	G	-	2	0	ACER1	6263214	0.936000	0.31750	0.029000	0.17559	0.086000	0.17979	1.990000	0.40717	-0.045000	0.13468	-1.740000	0.00687	GGC		0.607	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		T	6312214	C	T	6312214	3	4	236	1	0	0	0	0	1	0	0	0	138	739	26	2	514	2	ACER1	19	6312214	Missense_Mutation	SNP	C	TCGA-B1-A654-01A-11D-A31X-10	146269	6312214	52816769	41	14363											
C21orf2	755	hgsc.bcm.edu	37	21	45750162	45750162	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr21:45750162C>A	ENST00000339818.4	-	7	897	c.690G>T	c.(688-690)gaG>gaT	p.E230D	C21orf2_ENST00000325223.7_Missense_Mutation_p.E229D|C21orf2_ENST00000397956.3_Missense_Mutation_p.E349D|C21orf2_ENST00000496321.1_5'UTR|AP001062.7_ENST00000448927.1_RNA|AP001062.8_ENST00000422357.1_RNA	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	230					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		CCTCCAGCCCCTCTGCATCCA	0.697																																																0													15	15	15					21																	45750162		2189	4284	6473	SO:0001583	missense	755			Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.690G>T	chr21.hg19:g.45750162C>A	ENSP00000344566:p.Glu230Asp		A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	hg19	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589994	0.66105	.	.	ENSG00000160226	ENST00000339818;ENST00000397956;ENST00000325223	T;T;T	0.50813	1.46;0.73;1.47	5.13	3.29	0.37713	.	0.111298	0.64402	D	0.000014	T	0.57242	0.2040	M	0.69823	2.125	0.34719	D	0.728514	D;D;D;D	0.67145	0.986;0.996;0.976;0.986	P;P;P;P	0.58266	0.737;0.836;0.551;0.737	T	0.65747	-0.6093	10	0.29301	T	0.29	-28.6583	9.0929	0.36621	0.0:0.8222:0.0:0.1778	.	229;349;230;189	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	D	230;349;229	ENSP00000344566:E230D;ENSP00000381047:E349D;ENSP00000317302:E229D	ENSP00000317302:E229D	E	-	3	2	C21orf2	44574590	1.000000	0.71417	0.986000	0.45419	0.343000	0.28985	2.457000	0.45005	1.153000	0.42468	0.655000	0.94253	GAG		0.697	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		A	45750162	C	A	45750162	3	1	236	1	0	0	0	0	1	0	0	0	2125	680	24	4	84	4	C21orf2	21	45750162	Missense_Mutation	SNP	C	TCGA-B1-A654-01A-11D-A31X-10		45750162	2379733	42	14364											
MN1	4330	hgsc.bcm.edu	37	22	28192976	28192976	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chr22:28192976C>T	ENST00000302326.4	-	1	4510	c.3556G>A	c.(3556-3558)Gcc>Acc	p.A1186T		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1186					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCCCCGACGGCGCACTCACCC	0.647			T	ETV6	"AML, meningioma"																																		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													18	20	19					22																	28192976		2099	4221	6320	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3556G>A	chr22.hg19:g.28192976C>T	ENSP00000304956:p.Ala1186Thr		A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	hg19	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233669	0.58886	.	.	ENSG00000169184	ENST00000302326	T	0.47869	0.83	5.04	1.75	0.24633	.	0.148707	0.45361	D	0.000368	T	0.22126	0.0533	N	0.08118	0	0.24692	N	0.993302	B	0.02656	0.0	B	0.06405	0.002	T	0.10132	-1.0643	10	0.37606	T	0.19	-5.5453	4.928	0.13903	0.0:0.5962:0.1578:0.2459	.	1186	Q10571	MN1_HUMAN	T	1186	ENSP00000304956:A1186T	ENSP00000304956:A1186T	A	-	1	0	MN1	26522976	0.758000	0.28405	0.850000	0.33497	0.970000	0.65996	0.490000	0.22403	0.512000	0.28257	0.456000	0.33151	GCC		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		T	28192976	C	T	28192976	3	4	236	1	0	0	0	0	1	0	0	0	9675	768	27	1	414	1	MN1	22	28192976	Missense_Mutation	SNP	C	TCGA-B1-A654-01A-11D-A31X-10		28192976	23111590	43	14365											
MID1IP1	58526	hgsc.bcm.edu	37	X	38664368	38664368	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chrX:38664368G>T	ENST00000336949.6	+	2	1114	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	MID1IP1_ENST00000378474.3_Missense_Mutation_p.G57C|MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000457894.1_Missense_Mutation_p.G57C	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	57					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CGTGGAGGTAGGCGGCAGTGG	0.662																																																0													42	33	37					X																	38664368		2202	4300	6502	SO:0001583	missense	58526				CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"gastrulation specific G12 homolog (zebrafish)"		"MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.169G>T	chrX.hg19:g.38664368G>T	ENSP00000338706:p.Gly57Cys		D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	hg19	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964421	0.53507	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.84	1.05	0.20165	.	0.159061	0.29286	N	0.012584	T	0.43277	0.1240	L	0.40543	1.245	0.33031	D	0.530214	D	0.58620	0.983	P	0.51297	0.665	T	0.54589	-0.8271	9	0.59425	D	0.04	-14.4554	6.8616	0.24069	0.4221:0.0:0.5779:0.0	.	57	Q9NPA3	M1IP1_HUMAN	C	57	.	ENSP00000338706:G57C	G	+	1	0	MID1IP1	38549312	0.735000	0.28153	0.940000	0.37924	0.993000	0.82548	0.654000	0.24918	0.136000	0.18733	0.529000	0.55759	GGC		0.662	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			T	38664368	G	T	38664368	3	4	236	1	0	0	0	0	1	0	0	0	9579	1000	35	4	171	4	MID1IP1	23	38664368	Missense_Mutation	SNP	G	TCGA-B1-A654-01A-11D-A31X-10		38664368	116606192	44	14366											
RPA4	29935	hgsc.bcm.edu	37	X	96139635	96139635	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chrX:96139635G>A	ENST00000373040.3	+	1	729	c.326G>A	c.(325-327)gGt>gAt	p.G109D	DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	109					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CAGTGGTTTGGTAGAGAGAAA	0.463								Other identified genes with known or suspected DNA repair function																																								0													101	87	92					X																	96139635		2203	4300	6503	SO:0001583	missense	29935			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.326G>A	chrX.hg19:g.96139635G>A	ENSP00000362131:p.Gly109Asp		Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	hg19	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	0.245	-1.011087	0.02095	.	.	ENSG00000204086	ENST00000373040	T	0.37235	1.21	3.66	-0.387	0.12463	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	.	.	.	.	T	0.08313	0.0207	N	0.01086	-1.025	0.09310	N	1	B	0.25904	0.137	B	0.25759	0.063	T	0.29274	-1.0017	9	0.02654	T	1	-20.9474	2.3223	0.04214	0.1176:0.3079:0.405:0.1696	.	109	Q13156	RFA4_HUMAN	D	109	ENSP00000362131:G109D	ENSP00000362131:G109D	G	+	2	0	RPA4	96026291	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.691000	0.25467	-0.217000	0.10033	0.600000	0.82982	GGT		0.463	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		A	96139635	G	A	96139635	3	1	236	1	0	0	0	0	1	0	0	0	13545	1261	44	2	328	2	RPA4	23	96139635	Missense_Mutation	SNP	G	TCGA-B1-A654-01A-11D-A31X-10	57475267	96139635	59130925	45	14367											
RBMX2	51634	hgsc.bcm.edu	37	X	129546641	129546641	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A654-01A-11D-A31X-10	TCGA-B1-A654-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de661caf-c510-4b30-860a-a6b90ce03bdb	d5f5011d-91bc-4ca2-b4ff-2b456e1e1cbb	g.chrX:129546641A>T	ENST00000305536.6	+	6	852	c.788A>T	c.(787-789)aAg>aTg	p.K263M		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	263	Arg-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGAGAAGAAAAGACCAGGATT	0.527																																																0													69	67	68					X																	129546641		1931	4135	6066	SO:0001583	missense	51634			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.788A>T	chrX.hg19:g.129546641A>T	ENSP00000339090:p.Lys263Met		A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	hg19	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804392	0.31869	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.14516	2.5	4.9	-0.267	0.12938	.	0.462561	0.21532	N	0.073035	T	0.12987	0.0315	L	0.29908	0.895	0.18873	N	0.999989	P	0.50943	0.94	P	0.50231	0.635	T	0.13019	-1.0525	10	0.66056	D	0.02	.	7.4457	0.27209	0.5412:0.0:0.4588:0.0	.	263	Q9Y388	RBMX2_HUMAN	M	263	ENSP00000339090:K263M	ENSP00000339090:K263M	K	+	2	0	RBMX2	129374322	0.289000	0.24334	0.029000	0.17559	0.223000	0.24884	0.054000	0.14205	-0.329000	0.08527	0.417000	0.27973	AAG		0.527	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		T	129546641	A	T	129546641	3	4	236	1	0	0	0	0	1	0	0	0	13158	72	3	5	810	5	RBMX2	23	129546641	Missense_Mutation	SNP	A	TCGA-B1-A654-01A-11D-A31X-10	33407006	129546641	25723919	46	14368											
ATP13A2	23400	hgsc.bcm.edu	37	1	17318334	17318334	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:17318334G>T	ENST00000326735.8	-	20	2179	c.2146C>A	c.(2146-2148)Ctg>Atg	p.L716M	ATP13A2_ENST00000452699.1_Missense_Mutation_p.L711M|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.L711M			Q9NQ11	AT132_HUMAN	ATPase type 13A2	716					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGGAGGCTCAGGTCTCCTTCC	0.632																																																0													68	65	66					1																	17318334		2203	4300	6503	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2146C>A	chr1.hg19:g.17318334G>T	ENSP00000327214:p.Leu716Met		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	hg19	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621251	0.28889	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000503552	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.7	2.82	0.32997	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.199920	0.45606	D	0.000358	T	0.81451	0.4825	L	0.47190	1.495	0.37079	D	0.898894	D;D;D	0.69078	0.995;0.966;0.997	D;P;D	0.75020	0.985;0.756;0.971	T	0.80919	-0.1167	10	0.39692	T	0.17	-15.6307	9.9597	0.41688	0.1542:0.0:0.8458:0.0	.	711;711;716	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	M	716;711;711;186	ENSP00000327214:L716M;ENSP00000341115:L711M;ENSP00000413307:L711M;ENSP00000421126:L186M	ENSP00000327214:L716M	L	-	1	2	ATP13A2	17190921	0.553000	0.26513	0.638000	0.29380	0.383000	0.30230	0.854000	0.27791	0.590000	0.29694	0.491000	0.48974	CTG		0.632	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		T	17318334	G	T	17318334	3	4	237	1	0	0	0	0	1	0	0	0	1124	991	35	4	1672	4	ATP13A2	1	17318334	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10		17318334	231932287	1	14369											
RAP1GAP	5909	hgsc.bcm.edu	37	1	21936724	21936724	+	Silent	SNP	G	G	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:21936724G>C	ENST00000374765.4	-	14	1088	c.888C>G	c.(886-888)gtC>gtG	p.V296V	RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000542643.2_Silent_p.V296V|RAP1GAP_ENST00000374761.2_Silent_p.V327V|RAP1GAP_ENST00000374763.2_Silent_p.V296V|RAP1GAP_ENST00000290101.4_Silent_p.V360V	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	296	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CATCCTGGAAGACCACAGCCA	0.637																																																0													112	87	96					1																	21936724		2203	4300	6503	SO:0001819	synonymous_variant	5909			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.888C>G	chr1.hg19:g.21936724G>C			J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	hg19	CCDS218.1																																																																																				0.637	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		C	21936724	G	C	21936724	2	2	237	1	0	0	0	0	0	0	0	1	13043	929	33	4		4	RAP1GAP	1	21936724	Silent	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	4618390	21936724	227313897	2	14370											
CSF3R	1441	hgsc.bcm.edu	37	1	36939407	36939408	+	In_Frame_Ins	INS	-	-	GTC	rs145989033		TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:36939407_36939408insGTC	ENST00000373106.1	-	5	989_990	c.442_443insGAC	c.(442-444)cct>cGACct	p.147_148insR	CSF3R_ENST00000418048.2_In_Frame_Ins_p.147_148insR|CSF3R_ENST00000361632.4_In_Frame_Ins_p.147_148insR|CSF3R_ENST00000373103.1_In_Frame_Ins_p.147_148insR|CSF3R_ENST00000331941.5_In_Frame_Ins_p.147_148insR|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000440588.2_In_Frame_Ins_p.147_148insR|CSF3R_ENST00000338937.5_In_Frame_Ins_p.147_148insR|CSF3R_ENST00000373104.1_In_Frame_Ins_p.147_148insR	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	147	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTGGGTCTCAGGTCCTGGCTCC	0.599																																																0																																										SO:0001652	inframe_insertion	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.440_442dupGAC	chr1.hg19:g.36939408_36939410dupGTC	ENSP00000362198:p.Gly147_Pro148insArg			In_Frame_Ins	INS	ENST00000373106.1	hg19	CCDS413.1																																																																																				0.599	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		GTC	36939408	-	GTC	36939407	7	5	237	1	0	1	1	0	0	0	0	0	3939	1000	35	0	2309	0	CSF3R	1	36939407	In_Frame_Ins	INS	-	TCGA-B1-A655-01A-11D-A31Z-10	15002683	36939407	212311214	3	14371											
RPS8	6202	hgsc.bcm.edu	37	1	45242407	45242407	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:45242407C>G	ENST00000396651.3	+	3	332	c.172C>G	c.(172-174)Ctg>Gtg	p.L58V	SNORD46_ENST00000364043.1_RNA|SNORD38B_ENST00000384690.1_RNA|RPS8_ENST00000485390.1_3'UTR|RPS8_ENST00000372209.3_Intron|SNORD38A_ENST00000365161.1_RNA|SNORD55_ENST00000581525.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8	58					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					ATACCGTGCCCTGAGGTTGGA	0.547																																																0													73	64	67					1																	45242407		2203	4300	6503	SO:0001583	missense	6202			BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"S ribosomal proteins"	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.172C>G	chr1.hg19:g.45242407C>G	ENSP00000379888:p.Leu58Val		P09058|Q6IRL7	Missense_Mutation	SNP	ENST00000396651.3	hg19	CCDS513.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927456	0.52759	.	.	ENSG00000142937	ENST00000396651	T	0.37915	1.17	4.8	1.74	0.24563	.	0.000000	0.64402	D	0.000001	T	0.41003	0.1140	M	0.86953	2.85	0.80722	D	1	B	0.32101	0.356	B	0.31547	0.132	T	0.37619	-0.9698	10	0.87932	D	0	-24.8377	8.7594	0.34665	0.0:0.7558:0.0:0.2442	.	58	P62241	RS8_HUMAN	V	58	ENSP00000379888:L58V	ENSP00000379888:L58V	L	+	1	2	RPS8	45014994	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.400000	0.44504	0.166000	0.19597	0.655000	0.94253	CTG		0.547	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023439.1	NM_001012		G	45242407	C	G	45242407	3	3	237	1	0	0	0	0	1	0	0	0	13667	680	24	4	182	4	RPS8	1	45242407	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	8303000	45242407	204008214	4	14372											
CYP4X1	260293	hgsc.bcm.edu	37	1	47489659	47489659	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:47489659delA	ENST00000371901.3	+	1	420	c.170delA	c.(169-171)cacfs	p.H57fs	CYP4X1_ENST00000538609.1_Intron	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	57						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTCCTTGGGCACCagaaggta	0.682																																																0													13	15	14					1																	47489659		2197	4293	6490	SO:0001589	frameshift_variant	260293			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.170delA	chr1.hg19:g.47489659delA	ENSP00000360968:p.His57fs		G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Frame_Shift_Del	DEL	ENST00000371901.3	hg19	CCDS544.1																																																																																				0.682	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		-	47489659	A	-	47489659	7	5	237	1	0	1	0	1	0	0	0	0	4195	159	6	0	172	0	CYP4X1	1	47489659	Frame_Shift_Del	DEL	A	TCGA-B1-A655-01A-11D-A31Z-10	2247252	47489659	201760962	5	14373											
AMPD1	270	hgsc.bcm.edu	37	1	115221050	115221050	+	Silent	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:115221050A>G	ENST00000520113.2	-	8	1110	c.1095T>C	c.(1093-1095)taT>taC	p.Y365Y	AMPD1_ENST00000353928.6_Silent_p.Y332Y|AMPD1_ENST00000369538.3_Silent_p.Y361Y			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	365					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CTTTGGTGCTATAGACCACTC	0.408																																																0													160	155	157					1																	115221050		2203	4300	6503	SO:0001819	synonymous_variant	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1095T>C	chr1.hg19:g.115221050A>G			A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Silent	SNP	ENST00000520113.2	hg19	CCDS876.2																																																																																				0.408	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			G	115221050	A	G	115221050	2	3	237	1	0	0	0	0	0	0	0	1	585	456	16	3		3	AMPD1	1	115221050	Silent	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	67731391	115221050	134029571	6	14374											
MYT1L	23040	hgsc.bcm.edu	37	2	1805513	1805513	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:1805513T>C	ENST00000399161.2	-	23	3978	c.3231A>G	c.(3229-3231)gaA>gaG	p.E1077E	MYT1L_ENST00000428368.2_Silent_p.E1075E|MYT1L_ENST00000407844.1_Silent_p.E73E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1077					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGAATTGGATTCATTTAGCT	0.333																																																0													232	228	229					2																	1805513		1805	4085	5890	SO:0001819	synonymous_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3231A>G	chr2.hg19:g.1805513T>C			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	hg19																																																																																					0.333	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		C	1805513	T	C	1805513	2	2	237	1	0	0	0	0	0	0	0	1	10109	1490	52	3		3	MYT1L	2	1805513	Silent	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10		1805513	241393860	7	14375											
SMC6	79677	hgsc.bcm.edu	37	2	17896324	17896324	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:17896324T>A	ENST00000448223.2	-	16	1803	c.1534A>T	c.(1534-1536)Att>Ttt	p.I512F	SMC6_ENST00000402989.1_Missense_Mutation_p.I512F|SMC6_ENST00000351948.4_Missense_Mutation_p.I512F|SMC6_ENST00000381272.4_Missense_Mutation_p.I538F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	512	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGAAGATGAATGCAAGCTCCT	0.368																																																0													71	74	73					2																	17896324		2203	4300	6503	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1534A>T	chr2.hg19:g.17896324T>A	ENSP00000404092:p.Ile512Phe		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	hg19	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349589	0.82132	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.31247	2.1;2.1;1.62;2.1;1.5	6.16	6.16	0.99307	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.74647	2.275	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.74674	0.961;0.984;0.977	T	0.57860	-0.7738	10	0.62326	D	0.03	.	13.2153	0.59856	0.0:0.0:0.1324:0.8676	.	538;538;512	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	F	512;512;538;512;538	ENSP00000404092:I512F;ENSP00000323439:I512F;ENSP00000370672:I538F;ENSP00000384539:I512F;ENSP00000408644:I538F	ENSP00000323439:I512F	I	-	1	0	SMC6	17759805	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.172000	0.65003	2.367000	0.80283	0.528000	0.53228	ATT		0.368	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		A	17896324	T	A	17896324	3	1	237	1	0	0	0	0	1	0	0	0	14793	1464	51	5	1793	5	SMC6	2	17896324	Missense_Mutation	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10	16090811	17896324	225303049	8	14376											
RHOB	388	hgsc.bcm.edu	37	2	20647312	20647312	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:20647312A>G	ENST00000272233.4	+	1	478	c.86A>G	c.(85-87)gAg>gGg	p.E29G		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	29					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	AGTAAGGACGAGTTCCCCGAG	0.662																																																0													121	120	120					2																	20647312		2203	4300	6503	SO:0001583	missense	388				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"oncogene RHO H6"	165370	"ras homolog gene family, member B"	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.86A>G	chr2.hg19:g.20647312A>G	ENSP00000272233:p.Glu29Gly		B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	hg19	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117942	0.37339	.	.	ENSG00000143878	ENST00000272233	T	0.78246	-1.16	5.74	4.56	0.56223	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.76471	0.3992	L	0.58810	1.83	0.53688	D	0.999978	B	0.29716	0.255	B	0.35727	0.209	T	0.74559	-0.3625	10	0.56958	D	0.05	-19.0458	12.9321	0.58292	0.8645:0.1355:0.0:0.0	.	29	P62745	RHOB_HUMAN	G	29	ENSP00000272233:E29G	ENSP00000272233:E29G	E	+	2	0	RHOB	20510793	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	9.156000	0.94705	0.963000	0.38082	0.533000	0.62120	GAG		0.662	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1	NM_004040		G	20647312	A	G	20647312	3	3	237	1	0	0	0	0	1	0	0	0	13338	304	11	3	88	3	RHOB	2	20647312	Missense_Mutation	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	2750988	20647312	222552061	9	14377											
SLC5A6	8884	hgsc.bcm.edu	37	2	27427730	27427730	+	Silent	SNP	G	G	C	rs376306193		TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:27427730G>C	ENST00000310574.3	-	8	1277	c.804C>G	c.(802-804)ctC>ctG	p.L268L	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Silent_p.L268L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	268					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CGTATAAGGAGAGCATCATGA	0.587																																																0								G		0,4406		0,0,2203	103	95	98		804	-2.5	1	2		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC5A6	NM_021095.2		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		268/636	27427730	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.804C>G	chr2.hg19:g.27427730G>C			B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	hg19	CCDS1740.1																																																																																				0.587	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		C	27427730	G	C	27427730	2	2	237	1	0	0	0	0	0	0	0	1	14675	929	33	4		4	SLC5A6	2	27427730	Silent	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	6780418	27427730	215771643	10	14378											
SMEK2	57223	hgsc.bcm.edu	37	2	55806886	55806886	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:55806886delA	ENST00000345102.5	-	9	1698	c.1397delT	c.(1396-1398)ttcfs	p.F466fs	SMEK2_ENST00000272313.5_Frame_Shift_Del_p.F466fs|SMEK2_ENST00000407823.3_Frame_Shift_Del_p.F466fs	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	466					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGGTTGTAGAAAAAATTTAG	0.303																																																0													76	80	79					2																	55806886		2203	4298	6501	SO:0001589	frameshift_variant	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1397delT	chr2.hg19:g.55806886delA	ENSP00000339769:p.Phe466fs		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Frame_Shift_Del	DEL	ENST00000345102.5	hg19	CCDS46289.1																																																																																				0.303	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		-	55806886	A	-	55806886	7	5	237	1	0	1	0	1	0	0	0	0	14800	246	9	0	1188	0	SMEK2	2	55806886	Frame_Shift_Del	DEL	A	TCGA-B1-A655-01A-11D-A31Z-10	28379156	55806886	187392487	11	14379											
INO80B	83444	hgsc.bcm.edu	37	2	74684908	74684908	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:74684908T>A	ENST00000233331.7	+	5	1082	c.988T>A	c.(988-990)Tgt>Agt	p.C330S	WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000409737.1_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	330					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CCAGGCACTCTGTAGTCTTCA	0.682																																																0													18	20	19					2																	74684908		2117	4148	6265	SO:0001583	missense	83444			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.988T>A	chr2.hg19:g.74684908T>A	ENSP00000233331:p.Cys330Ser			Missense_Mutation	SNP	ENST00000233331.7	hg19	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	T	27.9	4.869691	0.91587	.	.	ENSG00000115274	ENST00000233331	D	0.99042	-5.36	5.27	5.27	0.74061	Zinc finger, HIT-type (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	L	0.58354	1.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.995;0.995	D	0.99671	1.0996	10	0.87932	D	0	-20.6182	13.1927	0.59719	0.0:0.0:0.0:1.0	.	348;315;330	B4DJ31;B4DJ22;Q9C086	.;.;IN80B_HUMAN	S	330	ENSP00000233331:C330S	ENSP00000233331:C330S	C	+	1	0	INO80B	74538416	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	5.346000	0.65992	2.211000	0.71520	0.459000	0.35465	TGT		0.682	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		A	74684908	T	A	74684908	3	1	237	1	0	0	0	0	1	0	0	0	7749	1580	55	5	1006	5	INO80B	2	74684908	Missense_Mutation	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10	18878022	74684908	168514465	12	14380											
RPIA	22934	hgsc.bcm.edu	37	2	89037541	89037541	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:89037541T>G	ENST00000283646.4	+	8	841	c.786T>G	c.(784-786)ttT>ttG	p.F262L		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	262					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				ACTGGAAGTTTGACCGGGTAC	0.438																																																0													154	143	146					2																	89037541		1889	4125	6014	SO:0001583	missense	22934			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"ribose 5-phosphate epimerase"	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.786T>G	chr2.hg19:g.89037541T>G	ENSP00000283646:p.Phe262Leu		Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	hg19	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.473758	0.84640	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.76186	-1.0	5.55	1.74	0.24563	.	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78321	-0.2249	10	0.42905	T	0.14	-10.0604	9.4754	0.38869	0.0:0.2052:0.0:0.7948	.	262	P49247	RPIA_HUMAN	L	262;128	ENSP00000283646:F262L	ENSP00000283646:F262L	F	+	3	2	RPIA	88818656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.082000	0.30803	0.056000	0.16144	0.383000	0.25322	TTT		0.438	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			G	89037541	T	G	89037541	3	3	237	1	0	0	0	0	1	0	0	0	13559	1809	63	5	816	5	RPIA	2	89037541	Missense_Mutation	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10	14352633	89037541	154161832	13	14381											
FER1L5	90342	hgsc.bcm.edu	37	2	97368368	97368368	+	RNA	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:97368368A>C	ENST00000457909.1	+	0	4790							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GGACATGCAGAAGACAGACAT	0.602																																																0													39	45	43					2																	97368368		2131	4257	6388			90342			BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"fer-1-like 5 (C. elegans)"				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		chr2.hg19:g.97368368A>C			Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	hg19		.	.	.	.	.	.	.	.	.	.	A	12.29	1.894586	0.33442	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.29	4.14	0.48551	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.139522	0.32068	U	0.006626	T	0.71256	0.3318	M	0.72576	2.205	.	.	.	D;D;D	0.71674	0.981;0.998;0.989	P;D;P	0.69479	0.77;0.964;0.885	T	0.79436	-0.1804	8	0.87932	D	0	-9.4277	10.0645	0.42295	0.9196:0.0:0.0804:0.0	.	507;1799;508	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	Q	1799;1803;508	.	ENSP00000442027:K508Q	K	+	1	0	FER1L5	96732095	0.999000	0.42202	1.000000	0.80357	0.680000	0.39746	2.466000	0.45084	0.865000	0.35603	0.459000	0.35465	AAG		0.602	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		C	97368368	A	C	97368368	1	2	237	0	1	0	0	0	0	0	0	0	5816	247	9	5		5	FER1L5	2	97368368	RNA	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	8330827	97368368	145831005	14	14382											
XIRP2	129446	hgsc.bcm.edu	37	2	168108259	168108259	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:168108259C>T	ENST00000409195.1	+	9	10446	c.10357C>T	c.(10357-10359)Cat>Tat	p.H3453Y	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H3231Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.H3453Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3278					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGACTTCAAGCATGCCCCACC	0.408																																																0													61	61	61					2																	168108259		1916	4139	6055	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10357C>T	chr2.hg19:g.168108259C>T	ENSP00000386840:p.His3453Tyr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385682	0.61956	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02916	4.12;4.12;4.11	6.16	5.29	0.74685	.	0.224814	0.46145	N	0.000309	T	0.14141	0.0342	M	0.71581	2.175	0.49483	D	0.99979	D;D;B	0.76494	0.999;0.999;0.368	D;D;B	0.80764	0.986;0.994;0.15	T	0.00213	-1.1913	10	0.87932	D	0	-12.9779	14.5412	0.67997	0.0:0.9292:0.0:0.0708	.	3278;3278;3231	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	3453;3453;3231;867	ENSP00000386840:H3453Y;ENSP00000295237:H3453Y;ENSP00000387255:H3231Y	ENSP00000295237:H3453Y	H	+	1	0	XIRP2	167816505	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.228000	0.51270	1.628000	0.50416	-0.145000	0.13849	CAT		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168108259	C	T	168108259	3	4	237	1	0	0	0	0	1	0	0	0	17435	710	25	2	10387	2	XIRP2	2	168108259	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	70739891	168108259	75091114	15	14383											
SLC25A12	8604	hgsc.bcm.edu	37	2	172700922	172700937	+	Frame_Shift_Del	DEL	CGGTTATGCCCAAAAT	CGGTTATGCCCAAAAT	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	CGGTTATGCCCAAAAT	CGGTTATGCCCAAAAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:172700922_172700937delCGGTTATGCCCAAAAT	ENST00000422440.2	-	5	444_459	c.407_422delATTTTGGGCATAACCG	c.(406-423)cattttgggcataaccggfs	p.HFGHNR136fs	SLC25A12_ENST00000392592.4_Frame_Shift_Del_p.HFGHNR29fs|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	136	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ATGCTTCTTCCGGTTATGCCCAAAATGCAGTCGGAT	0.352																																																0																																										SO:0001589	frameshift_variant	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.407_422delATTTTGGGCATAACCG	chr2.hg19:g.172700922_172700937delCGGTTATGCCCAAAAT	ENSP00000388658:p.His136fs		B3KR64|Q96AM8	Frame_Shift_Del	DEL	ENST00000422440.2	hg19	CCDS33327.1																																																																																				0.352	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		-	172700937	CGGTTATGCCCAAAAT	-	172700922	7	5	237	1	0	1	0	1	0	0	0	0	14480	652	23	0	1670	0	SLC25A12	2	172700922	Frame_Shift_Del	DEL	CGGTTATGCCCAAAAT	TCGA-B1-A655-01A-11D-A31Z-10	4592663	172700922	70498451	16	14384											
TTN	7273	hgsc.bcm.edu	37	2	179577514	179577514	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:179577514C>T	ENST00000591111.1	-	92	26511	c.26287G>A	c.(26287-26289)Gat>Aat	p.D8763N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D7836N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.D9080N			Q8WZ42	TITIN_HUMAN	titin	12916	Ig-like 70.				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)			GTATCTACATCGAACAACTCC	0.418																																																0													88	84	85					2																	179577514		1928	4120	6048	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26287G>A	chr2.hg19:g.179577514C>T	ENSP00000465570:p.Asp8763Asn		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.16	2.153386	0.38021	.	.	ENSG00000155657	ENST00000342992	T	0.38560	1.13	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23094	0.0558	N	0.03304	-0.355	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.08146	-1.0736	9	0.87932	D	0	.	12.9963	0.58648	0.0:0.9258:0.0:0.0742	.	8763	Q8WZ42	TITIN_HUMAN	N	7836	ENSP00000343764:D7836N	ENSP00000343764:D7836N	D	-	1	0	TTN	179285759	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	1.843000	0.39259	2.722000	0.93159	0.655000	0.94253	GAT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179577514	C	T	179577514	3	4	237	1	0	0	0	0	1	0	0	0	16740	884	31	1	77367	1	TTN	2	179577514	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	6876592	179577514	63621859	17	14385											
FASTKD2	22868	hgsc.bcm.edu	37	2	207655323	207655323	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:207655323T>C	ENST00000236980.6	+	11	2274	c.1926T>C	c.(1924-1926)tcT>tcC	p.S642S	FASTKD2_ENST00000402774.3_Silent_p.S642S|FASTKD2_ENST00000403094.3_Silent_p.S642S	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	642	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTTCCAGATCTGCTTATTGTT	0.363																																																0													159	159	159					2																	207655323		2203	4300	6503	SO:0001819	synonymous_variant	22868			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1926T>C	chr2.hg19:g.207655323T>C			Q9NVX6|Q9Y2H7	Silent	SNP	ENST00000236980.6	hg19	CCDS2371.1																																																																																				0.363	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		C	207655323	T	C	207655323	2	2	237	1	0	0	0	0	0	0	0	1	5688	1567	55	3		3	FASTKD2	2	207655323	Silent	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10	28077809	207655323	35544050	18	14386											
LRRFIP1	9208	hgsc.bcm.edu	37	2	238666100	238666100	+	Intron	SNP	A	A	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:238666100A>T	ENST00000392000.4	+	9	864				LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000308482.9_Splice_Site_p.E378V|LRRFIP1_ENST00000289175.6_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TTTCCTCAGGAAATCCGACAG	0.473																																																0													32	29	30					2																	238666100		1567	3579	5146	SO:0001627	intron_variant	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.747+1270A>T	chr2.hg19:g.238666100A>T			E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	hg19	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683862	0.68157	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.53640	0.61	5.51	5.51	0.81932	.	.	.	.	.	T	0.51109	0.1655	M	0.75085	2.285	0.80722	D	1	B	0.32604	0.377	B	0.32465	0.146	T	0.57207	-0.7851	9	0.87932	D	0	.	14.8382	0.70201	1.0:0.0:0.0:0.0	.	378	E9PGZ2	.	V	378;368	ENSP00000310109:E378V	ENSP00000310109:E378V	E	+	2	0	LRRFIP1	238330839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.546000	0.90661	2.097000	0.63578	0.533000	0.62120	GAA		0.473	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		T	238666100	A	T	238666100	1	4	237	0	1	0	0	0	0	0	0	0	9029	260	9	5		5	LRRFIP1	2	238666100	Intron	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	31010777	238666100	4533273	19	14387											
ZNF167	55888	hgsc.bcm.edu	37	3	44612087	44612087	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr3:44612087T>C	ENST00000273320.3	+	6	1914	c.1485T>C	c.(1483-1485)taT>taC	p.Y495Y	ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.Y495Y	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	495					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGAAACCTTATGAATGCAATG	0.448																																																0													116	118	117					3																	44612087		2203	4300	6503	SO:0001819	synonymous_variant	55888			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1485T>C	chr3.hg19:g.44612087T>C			A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	hg19	CCDS2715.1																																																																																				0.448	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		C	44612087	T	C	44612087	2	2	237	1	0	0	0	0	0	0	0	1	17746	1471	51	3		3	ZNF167	3	44612087	Silent	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10		44612087	153410343	20	14388											
VPRBP	9730	hgsc.bcm.edu	37	3	51452313	51452313	+	Splice_Site	SNP	T	T	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr3:51452313T>G	ENST00000335891.5	-	11	2266		c.e11-2					Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATCATAAATCTTTAGAGAAGA	0.373																																																0													58	51	53					3																	51452313		1852	4108	5960	SO:0001630	splice_region_variant	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2257-2A>C	chr3.hg19:g.51452313T>G			Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Splice_Site	SNP	ENST00000335891.5	hg19		.	.	.	.	.	.	.	.	.	.	T	25.0	4.587425	0.86851	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2997	0.82804	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPRBP	51427353	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.422000	0.80217	2.250000	0.74265	0.528000	0.53228	.		0.373	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	Intron	G	51452313	T	G	51452313	5	3	237	1	0	0	0	0	0	0	1	0	17190	1623	56	5	949	5	VPRBP	3	51452313	Splice_Site	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10	6840226	51452313	146570117	21	14389											
MME	4311	hgsc.bcm.edu	37	3	154858036	154858036	+	Silent	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr3:154858036A>G	ENST00000460393.1	+	10	1032	c.912A>G	c.(910-912)acA>acG	p.T304T	MME_ENST00000462745.1_Silent_p.T304T|MME_ENST00000492661.1_Silent_p.T304T|MME_ENST00000360490.2_Silent_p.T304T|MME_ENST00000493237.1_Silent_p.T304T	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	304				T -> R (in Ref. 4; AAA51915). {ECO:0000305}.	angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ACAAGATGACATTGGCCCAGA	0.323																																																0													74	69	71					3																	154858036		2203	4298	6501	SO:0001819	synonymous_variant	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.912A>G	chr3.hg19:g.154858036A>G			A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	hg19	CCDS3172.1																																																																																				0.323	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		G	154858036	A	G	154858036	2	3	237	1	0	0	0	0	0	0	0	1	9647	204	8	3		3	MME	3	154858036	Silent	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	103405723	154858036	43164394	22	14390											
AFAP1	60312	hgsc.bcm.edu	37	4	7811366	7811366	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr4:7811366T>C	ENST00000360265.4	-	8	1263	c.1029A>G	c.(1027-1029)tcA>tcG	p.S343S	AFAP1_ENST00000420658.1_Silent_p.S343S|AFAP1_ENST00000382543.3_Silent_p.S343S|AFAP1_ENST00000358461.2_Silent_p.S343S			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	343						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTTCCTCAGCTGAGGAGGTCT	0.537																																																0													145	115	125					4																	7811366		2203	4300	6503	SO:0001819	synonymous_variant	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1029A>G	chr4.hg19:g.7811366T>C			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	hg19	CCDS3397.1																																																																																				0.537	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		C	7811366	T	C	7811366	2	2	237	1	0	0	0	0	0	0	0	1	353	1567	55	3		3	AFAP1	4	7811366	Silent	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10		7811366	183342910	23	14391											
GUF1	60558	hgsc.bcm.edu	37	4	44688034	44688034	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr4:44688034T>C	ENST00000281543.5	+	7	922	c.728T>C	c.(727-729)aTc>aCc	p.I243T	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTGAAAGAATCCCCCCGTGA	0.318																																																0													139	141	140					4																	44688034		2203	4298	6501	SO:0001583	missense	60558				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.728T>C	chr4.hg19:g.44688034T>C	ENSP00000281543:p.Ile243Thr			Missense_Mutation	SNP	ENST00000281543.5	hg19	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.768731	0.69878	.	.	ENSG00000151806	ENST00000281543	T	0.72615	-0.67	5.72	5.72	0.89469	Protein synthesis factor, GTP-binding (1);	0.045776	0.85682	D	0.000000	T	0.79082	0.4386	M	0.73430	2.235	0.80722	D	1	P	0.48834	0.916	P	0.51701	0.677	T	0.82159	-0.0595	10	0.87932	D	0	-21.9459	15.1683	0.72846	0.0:0.0:0.0:1.0	.	243	Q8N442	GUF1_HUMAN	T	243	ENSP00000281543:I243T	ENSP00000281543:I243T	I	+	2	0	GUF1	44382791	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	7.594000	0.82698	2.169000	0.68431	0.460000	0.39030	ATC		0.318	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		C	44688034	T	C	44688034	3	2	237	1	0	0	0	0	1	0	0	0	6901	1435	50	3	754	3	GUF1	4	44688034	Missense_Mutation	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10	36876668	44688034	146466242	24	14392											
PRDM8	56978	hgsc.bcm.edu	37	4	81123265	81123265	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr4:81123265C>G	ENST00000504452.1	+	8	1488	c.649C>G	c.(649-651)Cag>Gag	p.Q217E	PRDM8_ENST00000339711.4_Missense_Mutation_p.Q217E|PRDM8_ENST00000415738.2_Missense_Mutation_p.Q217E			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcagcagcagcagGAGGCACC	0.672											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													18	24	22					4																	81123265		2023	4187	6210	SO:0001583	missense	56978			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.649C>G	chr4.hg19:g.81123265C>G	ENSP00000423985:p.Gln217Glu	1203	A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	hg19	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122577	0.37436	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.63417	-0.04;0.54;-0.04;-0.04	4.66	4.66	0.58398	.	0.633514	0.14982	N	0.287212	T	0.46386	0.1390	N	0.24115	0.695	0.23889	N	0.996557	B	0.25105	0.118	B	0.24006	0.05	T	0.15263	-1.0443	10	0.02654	T	1	.	17.3364	0.87282	0.0:1.0:0.0:0.0	.	217	Q9NQV8	PRDM8_HUMAN	E	217	ENSP00000423985:Q217E;ENSP00000425149:Q217E;ENSP00000339764:Q217E;ENSP00000406998:Q217E	ENSP00000339764:Q217E	Q	+	1	0	PRDM8	81342289	0.010000	0.17322	0.510000	0.27712	0.511000	0.34104	1.329000	0.33770	2.420000	0.82092	0.313000	0.20887	CAG		0.672	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			G	81123265	C	G	81123265	3	3	237	1	0	0	0	0	1	0	0	0	12467	711	25	4	659	4	PRDM8	4	81123265	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	36435231	81123265	110031011	25	14393											
PKD2	5311	hgsc.bcm.edu	37	4	88996109	88996109	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr4:88996109G>C	ENST00000508588.1	+	9	1317	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	PKD2_ENST00000237596.2_Missense_Mutation_p.E890Q|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.E308Q			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGGGGTGGCCGAGGTCAGTAG	0.468																																																0													138	108	118					4																	88996109		2203	4300	6503	SO:0001583	missense	5311			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.922G>C	chr4.hg19:g.88996109G>C	ENSP00000427131:p.Glu308Gln		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.9	4.473075	0.84640	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;D;D	0.92752	-0.39;-3.1;-3.1	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.95007	0.8384	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.95429	0.8514	10	0.66056	D	0.02	-21.5133	18.3522	0.90342	0.0:0.0:1.0:0.0	.	890	Q13563	PKD2_HUMAN	Q	890;308;308	ENSP00000237596:E890Q;ENSP00000427131:E308Q;ENSP00000425289:E308Q	ENSP00000237596:E890Q	E	+	1	0	PKD2	89215133	1.000000	0.71417	0.985000	0.45067	0.635000	0.38103	9.576000	0.98192	2.318000	0.78349	0.650000	0.86243	GAG		0.468	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		C	88996109	G	C	88996109	3	2	237	1	0	0	0	0	1	0	0	0	11968	1059	37	4	2722	4	PKD2	4	88996109	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	7872844	88996109	102158167	26	14394											
DNAH5	1767	hgsc.bcm.edu	37	5	13839483	13839483	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:13839483A>C	ENST00000265104.4	-	35	5968	c.5864T>G	c.(5863-5865)aTa>aGa	p.I1955R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1955	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGTGGAGTTATTACAAGCCT	0.418									Kartagener syndrome																																							0													126	129	128					5																	13839483		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5864T>G	chr5.hg19:g.13839483A>C	ENSP00000265104:p.Ile1955Arg		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138855	0.77775	.	.	ENSG00000039139	ENST00000265104	T	0.14391	2.51	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53236	-0.8467	10	0.87932	D	0	.	13.8028	0.63212	1.0:0.0:0.0:0.0	.	1955	Q8TE73	DYH5_HUMAN	R	1955	ENSP00000265104:I1955R	ENSP00000265104:I1955R	I	-	2	0	DNAH5	13892483	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.307000	0.96226	1.870000	0.54199	0.533000	0.62120	ATA		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13839483	A	C	13839483	3	2	237	1	0	0	0	0	1	0	0	0	4606	449	16	5	8190	5	DNAH5	5	13839483	Missense_Mutation	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10		13839483	167075777	27	14395											
AMACR	23600	hgsc.bcm.edu	37	5	33998825	33998825	+	Silent	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:33998825A>G	ENST00000335606.6	-	4	748	c.660T>C	c.(658-660)taT>taC	p.Y220Y	AMACR_ENST00000502637.1_Silent_p.Y205Y|AMACR_ENST00000512079.1_Silent_p.Y220Y|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382072.2_Missense_Mutation_p.Y167H|AMACR_ENST00000382085.3_Silent_p.Y220Y|AMACR_ENST00000426255.2_Silent_p.Y220Y|AMACR_ENST00000382068.3_Missense_Mutation_p.Y167H|AMACR_ENST00000441713.2_Missense_Mutation_p.Y167H	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	220					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TGTAAGTCGTATAGAAAGGTG	0.458																																																0													150	134	139					5																	33998825		2203	4300	6503	SO:0001819	synonymous_variant	23600			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.660T>C	chr5.hg19:g.33998825A>G			A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	hg19	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.568213	0.28003	.	.	ENSG00000242110	ENST00000382072;ENST00000441713	T;T	0.70164	-0.36;-0.46	5.34	0.947	0.19555	.	0.056699	0.64402	D	0.000001	T	0.45756	0.1358	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.14755	-1.0461	9	0.15499	T	0.54	-10.3866	8.1708	0.31254	0.5779:0.0:0.4221:0.0	.	167;167	Q6VRU4;Q9UHK6-4	.;.	H	167	ENSP00000371504:Y167H;ENSP00000403800:Y167H	ENSP00000371504:Y167H	Y	-	1	0	AMACR	34034582	0.996000	0.38824	0.997000	0.53966	0.411000	0.31082	0.457000	0.21875	0.241000	0.21283	-0.468000	0.05107	TAC		0.458	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		G	33998825	A	G	33998825	2	3	237	1	0	0	0	0	0	0	0	1	562	459	16	3		3	AMACR	5	33998825	Silent	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	20159342	33998825	146916435	28	14396											
ADAMTS6	11174	hgsc.bcm.edu	37	5	64766709	64766709	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:64766709C>T	ENST00000536360.1	-	3	1171	c.358G>A	c.(358-360)Gga>Aga	p.G120R				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	120						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CACTGGGGTCCATCTTTCCCC	0.373																																																0													110	109	109					5																	64766709		2203	4300	6503	SO:0001583	missense	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.358G>A	chr5.hg19:g.64766709C>T	ENSP00000440995:p.Gly120Arg		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	hg19		.	.	.	.	.	.	.	.	.	.	C	25.7	4.664354	0.88251	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.12039	2.72;2.72;2.72	5.78	5.78	0.91487	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.60455	1.87	0.80722	D	1	B	0.33857	0.429	P	0.47134	0.539	T	0.00599	-1.1651	10	0.28530	T	0.3	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	120	Q9UKP5	ATS6_HUMAN	R	120	ENSP00000370443:G120R;ENSP00000423551:G120R;ENSP00000440995:G120R	ENSP00000261306:G120R	G	-	1	0	ADAMTS6	64802465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.112000	0.77086	2.894000	0.99253	0.591000	0.81541	GGA		0.373	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		T	64766709	C	T	64766709	3	4	237	1	0	0	0	0	1	0	0	0	270	603	21	2	3087	2	ADAMTS6	5	64766709	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	30767884	64766709	116148551	29	14397											
PCDHGA5	56110	hgsc.bcm.edu	37	5	140745640	140745640	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:140745640C>T	ENST00000518069.1	+	1	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	581	Cadherin 6. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTCGCTCCGCAGAACCTG	0.627																																																0													97	108	105					5																	140745640		2203	4300	6503	SO:0001819	synonymous_variant	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1743C>T	chr5.hg19:g.140745640C>T			Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	hg19	CCDS54925.1																																																																																				0.627	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		T	140745640	C	T	140745640	2	4	237	1	0	0	0	0	0	0	0	1	11559	639	23	1		1	PCDHGA5	5	140745640	Silent	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	75978931	140745640	40169620	30	14398											
UBTD2	92181	hgsc.bcm.edu	37	5	171661228	171661228	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:171661228C>T	ENST00000393792.2	-	2	610	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	69						cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCCAAATCTCTTTCCGGCCT	0.438																																																0													165	142	150					5																	171661228		2203	4300	6503	SO:0001583	missense	92181			AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"dendritic cell derived ubiquitin like protein"	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.205G>A	chr5.hg19:g.171661228C>T	ENSP00000377381:p.Glu69Lys		Q8TDQ3	Missense_Mutation	SNP	ENST00000393792.2	hg19	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035386	0.93630	.	.	ENSG00000168246	ENST00000393792	T	0.64260	-0.09	5.51	5.51	0.81932	.	0.047322	0.85682	D	0.000000	D	0.84014	0.5379	M	0.93328	3.405	0.80722	D	1	D	0.54772	0.968	D	0.66847	0.947	D	0.87994	0.2751	10	0.87932	D	0	.	16.9267	0.86178	0.0:1.0:0.0:0.0	.	69	Q8WUN7	UBTD2_HUMAN	K	69	ENSP00000377381:E69K	ENSP00000377381:E69K	E	-	1	0	UBTD2	171593833	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.640000	0.83355	2.584000	0.87258	0.563000	0.77884	GAG		0.438	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277		T	171661228	C	T	171661228	3	4	237	1	0	0	0	0	1	0	0	0	16913	922	32	2	507	2	UBTD2	5	171661228	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	30915588	171661228	9254032	31	14399											
RGS14	10636	hgsc.bcm.edu	37	5	176798989	176798989	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:176798989C>T	ENST00000408923.3	+	15	1802	c.1614C>T	c.(1612-1614)ccC>ccT	p.P538P	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	538					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAAGGGCCCAGCTCCGAGG	0.627																																					NSCLC(47;353 1896 28036)											0													108	130	123					5																	176798989		2003	4169	6172	SO:0001819	synonymous_variant	10636			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1614C>T	chr5.hg19:g.176798989C>T			O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	hg19	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	C	2.400	-0.337801	0.05278	.	.	ENSG00000169220	ENST00000511890	T	0.45276	0.9	4.52	1.21	0.21127	.	0.378652	0.25866	N	0.027786	T	0.45975	0.1369	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.44922	-0.9296	7	0.87932	D	0	-6.9952	11.7553	0.51872	0.4686:0.5314:0.0:0.0	.	.	.	.	L	409	ENSP00000422329:P409L	ENSP00000422329:P409L	P	+	2	0	RGS14	176731595	0.000000	0.05858	0.363000	0.25875	0.442000	0.32017	-0.925000	0.03992	0.463000	0.27118	0.644000	0.83932	CCA		0.627	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		T	176798989	C	T	176798989	2	4	237	1	0	0	0	0	0	0	0	1	13303	581	21	2		2	RGS14	5	176798989	Silent	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	5137761	176798989	4116271	32	14400											
HIST1H2BJ	8970	hgsc.bcm.edu	37	6	27100264	27100264	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr6:27100264G>A	ENST00000607124.1	-	1	265	c.266C>T	c.(265-267)aCc>aTc	p.T89I	HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.T89I|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.T89I			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	89					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GGAGGTGATGGTCGAGCGCTT	0.602																																																0													93	94	94					6																	27100264		2203	4297	6500	SO:0001583	missense	8970			X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.266C>T	chr6.hg19:g.27100264G>A	ENSP00000476136:p.Thr89Ile		B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	hg19	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078432	0.94000	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.41758	0.99;0.99	4.16	4.16	0.48862	Histone-fold (2);Histone core (1);	0.000000	0.44097	U	0.000487	T	0.67590	0.2909	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77512	-0.2560	10	0.87932	D	0	.	14.7851	0.69796	0.0:0.0:1.0:0.0	.	89	P06899	H2B1J_HUMAN	I	89	ENSP00000445633:T89I;ENSP00000342886:T89I	ENSP00000342886:T89I	T	-	2	0	HIST1H2BJ	27208243	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.903000	0.92573	2.268000	0.75426	0.585000	0.79938	ACC		0.602	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		A	27100264	G	A	27100264	3	1	237	1	0	0	0	0	1	0	0	0	7151	1261	44	2	118	2	HIST1H2BJ	6	27100264	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10		27100264	144014803	33	14401											
KCNK16	83795	hgsc.bcm.edu	37	6	39285639	39285639	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr6:39285639G>T	ENST00000373229.5	-	3	431	c.418C>A	c.(418-420)Ctc>Atc	p.L140I	KCNK16_ENST00000507712.1_Missense_Mutation_p.L75I|KCNK16_ENST00000437525.2_Missense_Mutation_p.L140I|KCNK16_ENST00000425054.2_Missense_Mutation_p.L140I|KCNK16_ENST00000373227.4_Missense_Mutation_p.L140I	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	140					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGGTGGTTGAGGAAGATCACG	0.592																																																0													63	52	56					6																	39285639		2203	4300	6503	SO:0001583	missense	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.418C>A	chr6.hg19:g.39285639G>T	ENSP00000362326:p.Leu140Ile		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	hg19	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504087	0.85176	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.65	4.78	0.61160	Ion transport 2 (1);	0.065126	0.64402	D	0.000007	T	0.26702	0.0653	L	0.41632	1.29	0.45979	D	0.998796	P;P;D;D	0.76494	0.939;0.707;0.986;0.999	P;P;P;D	0.77557	0.589;0.624;0.793;0.99	T	0.00599	-1.1651	10	0.39692	T	0.17	.	14.537	0.67969	0.0721:0.0:0.9279:0.0	.	140;140;140;140	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	I	140;140;75;140;140	ENSP00000362326:L140I;ENSP00000391498:L140I;ENSP00000423842:L75I;ENSP00000362324:L140I;ENSP00000415375:L140I	ENSP00000362324:L140I	L	-	1	0	KCNK16	39393617	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.106000	0.64597	2.667000	0.90743	0.561000	0.74099	CTC		0.592	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		T	39285639	G	T	39285639	3	4	237	1	0	0	0	0	1	0	0	0	8065	1000	35	4	912	4	KCNK16	6	39285639	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	12185375	39285639	131829428	34	14402											
PRSS35	167681	hgsc.bcm.edu	37	6	84233613	84233613	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr6:84233613C>T	ENST00000369700.3	+	2	630	c.453C>T	c.(451-453)tcC>tcT	p.S151S	PRSS35_ENST00000536636.1_Silent_p.S151S	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	151	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TGAAGCTTTCCACGGGCTGTA	0.463																																																0													101	100	101					6																	84233613		2203	4300	6503	SO:0001819	synonymous_variant	167681			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.453C>T	chr6.hg19:g.84233613C>T			A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	hg19	CCDS4999.1																																																																																				0.463	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		T	84233613	C	T	84233613	2	4	237	1	0	0	0	0	0	0	0	1	12629	581	21	2		2	PRSS35	6	84233613	Silent	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	44947974	84233613	86881454	35	14403											
ENPP3	5169	hgsc.bcm.edu	37	6	132059234	132059234	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr6:132059234A>C	ENST00000414305.1	+	24	2559	c.2231A>C	c.(2230-2232)aAt>aCt	p.N744T	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.N744T			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	744	Nuclease.		N -> H (in dbSNP:rs36094194).		immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AATGGAGTAAATGTGGTTAGT	0.303																																																0													114	125	121					6																	132059234		2203	4297	6500	SO:0001583	missense	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2231A>C	chr6.hg19:g.132059234A>C	ENSP00000406261:p.Asn744Thr		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	hg19	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286561	0.80803	.	.	ENSG00000154269	ENST00000414305;ENST00000357639	T;T	0.69040	-0.37;-0.37	6.08	6.08	0.98989	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.196594	0.45867	D	0.000330	D	0.83036	0.5167	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86746	0.1957	10	0.87932	D	0	-31.3676	16.6512	0.85203	1.0:0.0:0.0:0.0	.	744	O14638	ENPP3_HUMAN	T	744	ENSP00000406261:N744T;ENSP00000350265:N744T	ENSP00000350265:N744T	N	+	2	0	ENPP3	132100927	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.974000	0.88039	2.333000	0.79357	0.482000	0.46254	AAT		0.303	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			C	132059234	A	C	132059234	3	2	237	1	0	0	0	0	1	0	0	0	5133	101	4	5	2321	5	ENPP3	6	132059234	Missense_Mutation	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	47825621	132059234	39055833	36	14404											
SNX9	51429	hgsc.bcm.edu	37	6	158358486	158358486	+	Missense_Mutation	SNP	C	C	A	rs532553158		TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr6:158358486C>A	ENST00000392185.3	+	15	1635	c.1464C>A	c.(1462-1464)ttC>ttA	p.F488L		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	488	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.F488F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		ATCTCCATTTCCTGATGGAAT	0.378																																																1	Substitution - coding silent(1)	skin(1)											149	143	145					6																	158358486		2203	4300	6503	SO:0001583	missense	51429			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1464C>A	chr6.hg19:g.158358486C>A	ENSP00000376024:p.Phe488Leu		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	hg19	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528865	0.64860	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.40476	1.03	5.39	2.61	0.31194	Sorting nexin protein, WASP-binding domain (1);	0.045544	0.85682	D	0.000000	T	0.20292	0.0488	L	0.43152	1.355	0.80722	D	1	P	0.52842	0.956	B	0.41619	0.361	T	0.03344	-1.1046	10	0.48119	T	0.1	-10.3916	8.3841	0.32491	0.0:0.6569:0.0:0.3431	.	488	Q9Y5X1	SNX9_HUMAN	L	488;488;288	ENSP00000376024:F488L	ENSP00000252631:F288L	F	+	3	2	SNX9	158278474	0.996000	0.38824	1.000000	0.80357	0.985000	0.73830	0.455000	0.21843	2.673000	0.90976	0.563000	0.77884	TTC		0.378	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			A	158358486	C	A	158358486	3	1	237	1	0	0	0	0	1	0	0	0	14915	854	30	4	1522	4	SNX9	6	158358486	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	26299252	158358486	12756581	37	14405											
SCIN	85477	hgsc.bcm.edu	37	7	12680013	12680013	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr7:12680013delT	ENST00000297029.5	+	11	1553	c.1452delT	c.(1450-1452)agtfs	p.S484fs	SCIN_ENST00000519209.1_Frame_Shift_Del_p.S237fs|SCIN_ENST00000445618.2_Frame_Shift_Del_p.S237fs	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	484	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACCTACTGAGTTTGTTCAAAG	0.453																																																0													58	56	57					7																	12680013		1863	4100	5963	SO:0001589	frameshift_variant	85477			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1452delT	chr7.hg19:g.12680013delT	ENSP00000297029:p.Ser484fs		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Frame_Shift_Del	DEL	ENST00000297029.5	hg19	CCDS47545.1																																																																																				0.453	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		-	12680013	T	-	12680013	7	5	237	1	0	1	0	1	0	0	0	0	13911	1722	60	0	1494	0	SCIN	7	12680013	Frame_Shift_Del	DEL	T	TCGA-B1-A655-01A-11D-A31Z-10		12680013	146458650	38	14406											
GCK	2645	hgsc.bcm.edu	37	7	44185276	44185276	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr7:44185276C>G	ENST00000403799.3	-	9	1542	c.1073G>C	c.(1072-1074)cGa>cCa	p.R358P	GCK_ENST00000345378.2_Missense_Mutation_p.R359P|GCK_ENST00000395796.3_Missense_Mutation_p.R357P|GCK_ENST00000437084.1_Missense_Mutation_p.R341P	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	358	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGTCGAGGGTCGCAGCCCCAG	0.697																																																0													30	34	33					7																	44185276		2203	4299	6502	SO:0001583	missense	2645			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1073G>C	chr7.hg19:g.44185276C>G	ENSP00000384247:p.Arg358Pro		A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	hg19	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547708	0.27652	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68;-4.68	5.2	4.22	0.49857	Hexokinase, C-terminal (1);	0.488216	0.21760	N	0.069537	D	0.92961	0.7760	N	0.17248	0.465	0.36805	D	0.885564	B;B;B;B;B	0.32128	0.357;0.0;0.308;0.0;0.357	B;B;B;B;B	0.34536	0.094;0.001;0.185;0.003;0.094	D	0.91899	0.5530	10	0.34782	T	0.22	-12.1896	7.8212	0.29288	0.2196:0.6875:0.0:0.0928	.	358;359;357;341;358	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	P	42;358;357;359;341	ENSP00000338009:R42P;ENSP00000384247:R358P;ENSP00000379142:R357P;ENSP00000223366:R359P;ENSP00000402840:R341P	ENSP00000338009:R42P	R	-	2	0	GCK	44151801	0.070000	0.21116	0.955000	0.39395	0.307000	0.27823	1.831000	0.39141	2.403000	0.81681	0.462000	0.41574	CGA		0.697	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			G	44185276	C	G	44185276	3	3	237	1	0	0	0	0	1	0	0	0	6295	884	31	4	332	4	GCK	7	44185276	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	31505263	44185276	114953387	39	14407											
POM121C	100101267	hgsc.bcm.edu	37	7	75070316	75070316	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr7:75070316A>C	ENST00000257665.5	-	3	868	c.869T>G	c.(868-870)cTg>cGg	p.L290R	POM121C_ENST00000453279.2_Missense_Mutation_p.L48R			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	290	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GAGGGCACTCAGTACAGTCTC	0.438																																																0													141	153	149					7																	75070316		2203	4298	6501	SO:0001583	missense	100101267				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.869T>G	chr7.hg19:g.75070316A>C	ENSP00000257665:p.Leu290Arg		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	hg19		.	.	.	.	.	.	.	.	.	.	A	13.49	2.253891	0.39896	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.39229	2.64;1.09	4.27	3.09	0.35607	.	0.499492	0.14888	N	0.292593	T	0.62233	0.2411	M	0.81497	2.545	0.44142	D	0.996934	D	0.89917	1.0	D	0.74674	0.984	T	0.60767	-0.7198	10	0.87932	D	0	.	8.0021	0.30304	0.8181:0.0:0.0:0.1819	.	290	A8CG34	P121C_HUMAN	R	290;48	ENSP00000257665:L290R;ENSP00000414208:L48R	ENSP00000257665:L290R	L	-	2	0	POM121C	74908252	1.000000	0.71417	0.998000	0.56505	0.211000	0.24417	6.656000	0.74396	0.601000	0.29879	-0.676000	0.03789	CTG		0.438	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		C	75070316	A	C	75070316	3	2	237	1	0	0	0	0	1	0	0	0	12242	188	7	5	2864	5	POM121C	7	75070316	Missense_Mutation	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	30885040	75070316	84068347	40	14408											
LHFPL3	375612	hgsc.bcm.edu	37	7	103969251	103969251	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr7:103969251C>T	ENST00000535008.1	+	1	148	c.24C>T	c.(22-24)gcC>gcT	p.A8A	LHFPL3_ENST00000543266.1_Silent_p.A8A|LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000424859.1_5'UTR			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	8						integral component of membrane (GO:0016021)		p.A8A(1)		kidney(1)|large_intestine(2)|lung(6)	9						ccgccgctgccgccgccgccg	0.721																																																1	Substitution - coding silent(1)	kidney(1)											11	14	13					7																	103969251		1949	4092	6041	SO:0001819	synonymous_variant	375612			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.24C>T	chr7.hg19:g.103969251C>T			A1L383|A4D0Q5	Silent	SNP	ENST00000535008.1	hg19																																																																																					0.721	LHFPL3-201	KNOWN	basic	protein_coding	protein_coding		NM_199000		T	103969251	C	T	103969251	2	4	237	1	0	0	0	0	0	0	0	1	8768	639	23	1		1	LHFPL3	7	103969251	Silent	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	28898935	103969251	55169412	41	14409											
MYOM2	9172	hgsc.bcm.edu	37	8	2020508	2020508	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr8:2020508G>C	ENST00000262113.4	+	9	1018	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	293	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGGGAAGGCGAGACGGTCAC	0.602																																																0													85	70	75					8																	2020508		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.877G>C	chr8.hg19:g.2020508G>C	ENSP00000262113:p.Glu293Gln		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	hg19	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485155	0.63962	.	.	ENSG00000036448	ENST00000262113	T	0.46063	0.88	5.13	4.25	0.50352	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.208574	0.40818	N	0.001006	T	0.46308	0.1386	M	0.63843	1.955	0.80722	D	1	B	0.29136	0.234	B	0.34180	0.177	T	0.50206	-0.8855	10	0.72032	D	0.01	.	15.6628	0.77203	0.0:0.1376:0.8624:0.0	.	293	P54296	MYOM2_HUMAN	Q	293	ENSP00000262113:E293Q	ENSP00000262113:E293Q	E	+	1	0	MYOM2	2007915	1.000000	0.71417	0.800000	0.32199	0.700000	0.40528	4.275000	0.58927	1.132000	0.42129	0.655000	0.94253	GAG		0.602	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		C	2020508	G	C	2020508	3	2	237	1	0	0	0	0	1	0	0	0	10094	1059	37	4	907	4	MYOM2	8	2020508	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10		2020508	144343514	42	14410											
LOXL2	4017	hgsc.bcm.edu	37	8	23198538	23198538	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr8:23198538G>A	ENST00000389131.3	-	4	1079	c.710C>T	c.(709-711)cCt>cTt	p.P237L	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	237	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCTCTCCCCAGGGAAGCCAAA	0.537																																																0													163	132	142					8																	23198538		2203	4300	6503	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.710C>T	chr8.hg19:g.23198538G>A	ENSP00000373783:p.Pro237Leu		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	hg19	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920583	0.73213	.	.	ENSG00000134013	ENST00000389131	T	0.60424	0.19	5.83	5.83	0.93111	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.047123	0.85682	D	0.000000	T	0.78381	0.4274	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.80636	-0.1294	10	0.72032	D	0.01	.	16.8345	0.85953	0.0:0.0:1.0:0.0	.	237	Q9Y4K0	LOXL2_HUMAN	L	237	ENSP00000373783:P237L	ENSP00000373783:P237L	P	-	2	0	LOXL2	23254483	1.000000	0.71417	0.975000	0.42487	0.192000	0.23643	9.751000	0.98889	2.750000	0.94351	0.655000	0.94253	CCT		0.537	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			A	23198538	G	A	23198538	3	1	237	1	0	0	0	0	1	0	0	0	8902	1000	35	2	1658	2	LOXL2	8	23198538	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	21178030	23198538	123165484	43	14411											
EXOSC4	54512	hgsc.bcm.edu	37	8	145134932	145134932	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr8:145134932C>T	ENST00000316052.5	+	2	361	c.258C>T	c.(256-258)cgC>cgT	p.R86R	GPAA1_ENST00000361036.6_5'Flank|EXOSC4_ENST00000525936.1_Intron|GPAA1_ENST00000355091.4_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	86					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTGAGCGCAAGCGACGGC	0.627																																																0													84	83	83					8																	145134932		2203	4300	6503	SO:0001819	synonymous_variant	54512			AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"exosome component Rrp41"	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.258C>T	chr8.hg19:g.145134932C>T				Silent	SNP	ENST00000316052.5	hg19	CCDS6414.1																																																																																				0.627	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		T	145134932	C	T	145134932	2	4	237	1	0	0	0	0	0	0	0	1	5319	697	25	2		2	EXOSC4	8	145134932	Silent	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	121936394	145134932	1229090	44	14412											
SLC39A4	55630	hgsc.bcm.edu	37	8	145640398	145640398	+	Missense_Mutation	SNP	G	G	T	rs200044971		TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr8:145640398G>T	ENST00000301305.3	-	4	869	c.764C>A	c.(763-765)cCc>cAc	p.P255H	SLC39A4_ENST00000276833.5_Missense_Mutation_p.P230H|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	255					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GCTGATGAGGGGCACAGGGTC	0.672																																																0													40	45	43					8																	145640398		2203	4300	6503	SO:0001583	missense	55630			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.764C>A	chr8.hg19:g.145640398G>T	ENSP00000301305:p.Pro255His		Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	hg19	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850768	0.51270	.	.	ENSG00000147804	ENST00000276833;ENST00000301305;ENST00000526658	T;T;T	0.57436	0.4;0.4;0.4	5.0	-4.46	0.03536	.	3.799390	0.00575	N	0.000304	T	0.39989	0.1099	L	0.47716	1.5	0.09310	N	1	B;B	0.18461	0.028;0.028	B;B	0.16722	0.016;0.016	T	0.09662	-1.0664	10	0.38643	T	0.18	-5.3671	0.812	0.01095	0.3985:0.1207:0.2362:0.2446	.	255;230	Q6P5W5;A6NDY5	S39A4_HUMAN;.	H	230;255;161	ENSP00000276833:P230H;ENSP00000301305:P255H;ENSP00000434512:P161H	ENSP00000276833:P230H	P	-	2	0	SLC39A4	145611206	0.002000	0.14202	0.000000	0.03702	0.037000	0.13140	-0.570000	0.05895	-0.723000	0.04915	-0.320000	0.08662	CCC		0.672	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			T	145640398	G	T	145640398	3	4	237	1	0	0	0	0	1	0	0	0	14626	1232	43	4	1215	4	SLC39A4	8	145640398	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	505466	145640398	723624	45	14413											
C9orf93	203238	hgsc.bcm.edu	37	9	15729747	15729747	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:15729747T>C	ENST00000380701.3	+	16	2328	c.2000T>C	c.(1999-2001)cTa>cCa	p.L667P	CCDC171_ENST00000297641.3_Missense_Mutation_p.L667P	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	667																	AAGAAGGAACTAGAGCTGCAG	0.463																																																0													96	99	98					9																	15729747		2203	4299	6502	SO:0001583	missense	203238			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2000T>C	chr9.hg19:g.15729747T>C	ENSP00000370077:p.Leu667Pro		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	hg19	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.037598	0.54896	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.25912	1.77;1.77	5.61	5.61	0.85477	.	0.250009	0.33650	N	0.004693	T	0.39253	0.1071	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.982;0.982	T	0.30563	-0.9974	10	0.72032	D	0.01	-6.1701	15.7924	0.78376	0.0:0.0:0.0:1.0	.	675;667;667	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	P	667	ENSP00000297641:L667P;ENSP00000370077:L667P	ENSP00000297641:L667P	L	+	2	0	C9orf93	15719747	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.833000	0.69349	2.130000	0.65690	0.477000	0.44152	CTA		0.463	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		C	15729747	T	C	15729747	3	2	237	1	0	0	0	0	1	0	0	0	2508	1522	53	3	2058	3	C9orf93	9	15729747	Missense_Mutation	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10		15729747	125483684	46	14414											
NPR2	4882	hgsc.bcm.edu	37	9	35792786	35792786	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:35792786T>C	ENST00000342694.2	+	1	636	c.381T>C	c.(379-381)tcT>tcC	p.S127S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	127					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGTGGCCTCTGGTTTTTCGG	0.602																																																0													125	106	112					9																	35792786		2203	4300	6503	SO:0001819	synonymous_variant	4882			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.381T>C	chr9.hg19:g.35792786T>C			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	hg19	CCDS6590.1																																																																																				0.602	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			C	35792786	T	C	35792786	2	2	237	1	0	0	0	0	0	0	0	1	10597	1567	55	3		3	NPR2	9	35792786	Silent	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10	20063039	35792786	105420645	47	14415											
NPR2	4882	hgsc.bcm.edu	37	9	35800822	35800822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:35800822delC	ENST00000342694.2	+	6	1590	c.1335delC	c.(1333-1335)gacfs	p.D445fs		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	445					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACTTGGACGACCCATCCTGTG	0.582																																																0													126	103	111					9																	35800822		2203	4300	6503	SO:0001589	frameshift_variant	4882			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1335delC	chr9.hg19:g.35800822delC	ENSP00000341083:p.Asp445fs		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Frame_Shift_Del	DEL	ENST00000342694.2	hg19	CCDS6590.1																																																																																				0.582	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			-	35800822	C	-	35800822	7	5	237	1	0	1	0	1	0	0	0	0	10597	506	18	0	1357	0	NPR2	9	35800822	Frame_Shift_Del	DEL	C	TCGA-B1-A655-01A-11D-A31Z-10	8036	35800822	105412609	48	14416											
OR1N2	138882	hgsc.bcm.edu	37	9	125315955	125315955	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:125315955C>T	ENST00000373688.2	+	1	565	c.507C>T	c.(505-507)acC>acT	p.T169T		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGGTGCTAACCAACTGTCCTG	0.532																																																0													141	123	129					9																	125315955		2203	4300	6503	SO:0001819	synonymous_variant	138882				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.507C>T	chr9.hg19:g.125315955C>T			A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	hg19	CCDS35123.1																																																																																				0.532	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			T	125315955	C	T	125315955	2	4	237	1	0	0	0	0	0	0	0	1	10972	581	21	2		2	OR1N2	9	125315955	Silent	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	89515133	125315955	15897476	49	14417											
MED27	9442	hgsc.bcm.edu	37	9	134889753	134889753	+	Silent	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:134889753A>G	ENST00000292035.5	-	3	513	c.450T>C	c.(448-450)gcT>gcC	p.A150A	MED27_ENST00000357028.2_Silent_p.A150A	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	150					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TTGTGGGCTGAGCCTTTGGTC	0.428																																					Colon(41;784 923 6932 42329 52483)											0													152	129	137					9																	134889753		2203	4300	6503	SO:0001819	synonymous_variant	9442			AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.450T>C	chr9.hg19:g.134889753A>G			O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Silent	SNP	ENST00000292035.5	hg19	CCDS6945.1																																																																																				0.428	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		G	134889753	A	G	134889753	2	3	237	1	0	0	0	0	0	0	0	1	9447	291	11	3		3	MED27	9	134889753	Silent	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	9573798	134889753	6323678	50	14418											
GJD4	219770	hgsc.bcm.edu	37	10	35896876	35896876	+	Silent	SNP	C	C	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:35896876C>A	ENST00000321660.1	+	2	593	c.435C>A	c.(433-435)atC>atA	p.I145I	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	145					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCTACATCATCCACCTCCTCC	0.692																																																0													17	18	18					10																	35896876		2196	4293	6489	SO:0001819	synonymous_variant	219770			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"Ion channels / Gap junction proteins (connexins)"	23296	protein-coding gene	gene with protein product	"connexin 40.1"	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.435C>A	chr10.hg19:g.35896876C>A			Q8N2R7	Silent	SNP	ENST00000321660.1	hg19	CCDS7191.1																																																																																				0.692	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	NM_153368		A	35896876	C	A	35896876	2	1	237	1	0	0	0	0	0	0	0	1	6421	845	30	4		4	GJD4	10	35896876	Silent	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10		35896876	99637871	51	14419											
ADAMTS14	140766	hgsc.bcm.edu	37	10	72513573	72513573	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:72513573G>T	ENST00000373207.1	+	19	2747	c.2747G>T	c.(2746-2748)tGg>tTg	p.W916L	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.W919L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	916	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACGGAGGAGTGGGGTGCCTGC	0.622																																																0													16	12	14					10																	72513573		2194	4295	6489	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2747G>T	chr10.hg19:g.72513573G>T	ENSP00000362303:p.Trp916Leu		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	hg19	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956346	0.73902	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.74315	-0.83;-0.83	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000001	D	0.92195	0.7525	H	0.99325	4.515	0.58432	D	0.999995	D;D	0.89917	0.967;1.0	P;D	0.80764	0.897;0.994	D	0.95625	0.8684	10	0.87932	D	0	.	17.1757	0.86841	0.0:0.0:1.0:0.0	.	916;919	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	L	919;916	ENSP00000362304:W919L;ENSP00000362303:W916L	ENSP00000362303:W916L	W	+	2	0	ADAMTS14	72183579	1.000000	0.71417	0.963000	0.40424	0.270000	0.26580	9.601000	0.98297	2.378000	0.81104	0.563000	0.77884	TGG		0.622	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		T	72513573	G	T	72513573	3	4	237	1	0	0	0	0	1	0	0	0	259	1357	47	4	2830	4	ADAMTS14	10	72513573	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	36616697	72513573	63021174	52	14420											
C10orf11	83938	hgsc.bcm.edu	37	10	77818509	77818509	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:77818509A>G	ENST00000372499.1	+	4	615	c.400A>G	c.(400-402)Aga>Gga	p.R134G	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	134	LRRCT.				melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GGCGTTGGTCAGAGGAGTCTT	0.488																																																0													148	136	140					10																	77818509		2203	4300	6503	SO:0001583	missense	83938			AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"oculocutaneous albinism 7, autosomal recessive"	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.400A>G	chr10.hg19:g.77818509A>G	ENSP00000361577:p.Arg134Gly		B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	hg19	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704846	0.68615	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.37235	1.21	5.66	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	M	0.83012	2.62	0.41798	D	0.989901	P	0.41313	0.745	P	0.49226	0.603	T	0.56974	-0.7890	10	0.46703	T	0.11	-22.7506	12.4457	0.55649	0.8601:0.1398:0.0:0.0	.	134	Q9H2I8	CJ011_HUMAN	G	162;134	ENSP00000361577:R134G	ENSP00000346310:R162G	R	+	1	2	C10orf11	77488515	0.984000	0.35163	1.000000	0.80357	0.977000	0.68977	2.280000	0.43443	2.164000	0.68074	0.533000	0.62120	AGA		0.488	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		G	77818509	A	G	77818509	3	3	237	1	0	0	0	0	1	0	0	0	1584	180	7	3	414	3	C10orf11	10	77818509	Missense_Mutation	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	5304936	77818509	57716238	53	14421											
C10orf12	26148	hgsc.bcm.edu	37	10	98744160	98744160	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:98744160A>C	ENST00000286067.2	+	1	3120	c.3013A>C	c.(3013-3015)Aat>Cat	p.N1005H		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1005										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAATATTCCAATATTCGAGG	0.453																																																0													50	56	54					10																	98744160		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3013A>C	chr10.hg19:g.98744160A>C	ENSP00000286067:p.Asn1005His		Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	hg19	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.409208	0.42715	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.11169	2.8	5.71	4.57	0.56435	.	0.273469	0.25106	U	0.033088	T	0.19005	0.0456	L	0.47716	1.5	0.34487	D	0.70458	D	0.55385	0.971	P	0.53224	0.721	T	0.18777	-1.0326	10	0.72032	D	0.01	-16.6286	12.7429	0.57264	0.7424:0.2576:0.0:0.0	.	1005	Q8N655	CJ012_HUMAN	H	1005;839	ENSP00000286067:N1005H	ENSP00000286067:N1005H	N	+	1	0	C10orf12	98734150	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	5.768000	0.68858	0.989000	0.38761	-0.313000	0.08912	AAT		0.453	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		C	98744160	A	C	98744160	3	2	237	1	0	0	0	0	1	0	0	0	1591	130	5	5	3015	5	C10orf12	10	98744160	Missense_Mutation	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	20925651	98744160	36790587	54	14422											
ERLIN1	10613	hgsc.bcm.edu	37	10	101935785	101935785	+	Missense_Mutation	SNP	G	G	C	rs369477049		TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:101935785G>C	ENST00000421367.2	-	5	3054	c.347C>G	c.(346-348)aCc>aGc	p.T116S	ERLIN1_ENST00000407654.3_Missense_Mutation_p.T116S	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	114					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GAAGATTAAGGTCTTGTCATA	0.393																																																0													161	145	150					10																	101935785		2203	4300	6503	SO:0001583	missense	10613			AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"	611604	"chromosome 10 open reading frame 69", "SPFH domain family, member 1"	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.347C>G	chr10.hg19:g.101935785G>C	ENSP00000410964:p.Thr116Ser		B0QZ42|Q53HV0	Missense_Mutation	SNP	ENST00000421367.2	hg19	CCDS7487.2	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053929	0.55218	.	.	ENSG00000107566	ENST00000421367;ENST00000407654;ENST00000370410;ENST00000370408	D;D;D	0.94417	-3.42;-3.42;-3.42	4.96	4.96	0.65561	.	0.114986	0.64402	U	0.000019	D	0.95020	0.8388	M	0.78456	2.415	0.58432	D	0.999999	B;B	0.29270	0.24;0.24	B;B	0.42959	0.403;0.403	D	0.92339	0.5880	10	0.09590	T	0.72	-17.5613	16.0678	0.80897	0.0:0.0:1.0:0.0	.	114;116	O75477;D3DR65	ERLN1_HUMAN;.	S	116;116;32;116	ENSP00000410964:T116S;ENSP00000384900:T116S;ENSP00000359436:T116S	ENSP00000359436:T116S	T	-	2	0	ERLIN1	101925775	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.771000	0.98977	2.456000	0.83038	0.561000	0.74099	ACC		0.393	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459		C	101935785	G	C	101935785	3	2	237	1	0	0	0	0	1	0	0	0	5234	1261	44	4	727	4	ERLIN1	10	101935785	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	3191625	101935785	33598962	55	14423											
HIPK3	10114	hgsc.bcm.edu	37	11	33374883	33374883	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr11:33374883T>C	ENST00000303296.4	+	17	3722	c.3417T>C	c.(3415-3417)tcT>tcC	p.S1139S	AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000525975.1_Silent_p.S1118S|HIPK3_ENST00000379016.3_Silent_p.S1118S|HIPK3_ENST00000456517.1_Silent_p.S1118S	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1139					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGTTAGCCTCTCCGTGTACCT	0.517																																																0													216	178	191					11																	33374883		2202	4298	6500	SO:0001819	synonymous_variant	10114			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3417T>C	chr11.hg19:g.33374883T>C			O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	hg19	CCDS7884.1																																																																																				0.517	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		C	33374883	T	C	33374883	2	2	237	1	0	0	0	0	0	0	0	1	7120	1538	54	3		3	HIPK3	11	33374883	Silent	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10		33374883	101631633	56	14424											
KIAA0652	9776	hgsc.bcm.edu	37	11	46666907	46666907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr11:46666907C>T	ENST00000434074.1	+	3	777	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	ATG13_ENST00000529655.1_Nonsense_Mutation_p.Q30*|ATG13_ENST00000528494.1_Nonsense_Mutation_p.Q30*|ATG13_ENST00000451945.1_Nonsense_Mutation_p.Q30*|ATG13_ENST00000359513.4_Nonsense_Mutation_p.Q30*|ATG13_ENST00000526508.1_Nonsense_Mutation_p.Q30*|ATG13_ENST00000312040.4_Nonsense_Mutation_p.Q30*|ATG13_ENST00000524625.1_Nonsense_Mutation_p.Q30*|ATG13_ENST00000530500.1_5'UTR	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	30					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGTGATTGTCCAGGCTCGGCT	0.373																																																0													95	90	91					11																	46666907		2201	4299	6500	SO:0001587	stop_gained	9776			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.88C>T	chr11.hg19:g.46666907C>T	ENSP00000400642:p.Gln30*		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Nonsense_Mutation	SNP	ENST00000434074.1	hg19	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	C	37	6.442003	0.97568	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000533325;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.2057	19.4568	0.94895	0.0:1.0:0.0:0.0	.	.	.	.	X	30	.	ENSP00000310321:Q30X	Q	+	1	0	ATG13	46623483	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.103000	0.77014	2.832000	0.97577	0.655000	0.94253	CAG		0.373	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		T	46666907	C	T	46666907	4	4	237	1	0	0	0	0	0	1	0	0	8190	595	21	2	94	2	KIAA0652	11	46666907	Nonsense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	13292024	46666907	88339609	57	14425											
PCNXL3	399909	hgsc.bcm.edu	37	11	65397996	65397996	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr11:65397996A>C	ENST00000355703.3	+	27	4930	c.4391A>C	c.(4390-4392)tAt>tCt	p.Y1464S	PCNXL3_ENST00000531280.1_3'UTR	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1464						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTGGAGGGCTATAGCATTAGT	0.572																																																0													86	92	90					11																	65397996		2116	4217	6333	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4391A>C	chr11.hg19:g.65397996A>C	ENSP00000347931:p.Tyr1464Ser		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	hg19	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.559339	0.86335	.	.	ENSG00000197136	ENST00000355703	T	0.23552	1.9	5.02	5.02	0.67125	.	0.072055	0.56097	D	0.000021	T	0.55657	0.1934	M	0.88450	2.955	0.51767	D	0.999931	D;D	0.71674	0.982;0.998	D;D	0.73708	0.967;0.981	T	0.64516	-0.6389	10	0.87932	D	0	.	12.7937	0.57549	1.0:0.0:0.0:0.0	.	351;1464	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	S	1464	ENSP00000347931:Y1464S	ENSP00000347931:Y1464S	Y	+	2	0	PCNXL3	65154572	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.753000	0.91637	2.131000	0.65755	0.529000	0.55759	TAT		0.572	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		C	65397996	A	C	65397996	3	2	237	1	0	0	0	0	1	0	0	0	11595	449	16	5	4497	5	PCNXL3	11	65397996	Missense_Mutation	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	18731089	65397996	69608520	58	14426											
MRE11A	4361	hgsc.bcm.edu	37	11	94225958	94225958	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr11:94225958C>A	ENST00000323929.3	-	2	232	c.10G>T	c.(10-12)Gca>Tca	p.A4S	ANKRD49_ENST00000544253.1_5'Flank|MRE11A_ENST00000407439.3_5'UTR|MRE11A_ENST00000393241.4_Missense_Mutation_p.A4S|MRE11A_ENST00000536144.1_5'UTR|ANKRD49_ENST00000540349.1_5'Flank|MRE11A_ENST00000323977.3_Missense_Mutation_p.A4S|ANKRD49_ENST00000544612.1_5'Flank|MRE11A_ENST00000540013.1_Missense_Mutation_p.A4S	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	4					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AGTGCATCTGCAGTACTCATT	0.423								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																							0													113	103	107					11																	94225958		2201	4298	6499	SO:0001583	missense	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.10G>T	chr11.hg19:g.94225958C>A	ENSP00000325863:p.Ala4Ser		O43475	Missense_Mutation	SNP	ENST00000323929.3	hg19	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687277	0.14973	.	.	ENSG00000020922	ENST00000323929;ENST00000323977;ENST00000393241;ENST00000540013;ENST00000536754;ENST00000538923	T;T;T;T;T	0.76709	-0.84;-0.82;-0.84;-1.03;-1.04	5.01	-0.599	0.11645	.	0.961041	0.08657	N	0.913092	T	0.51109	0.1655	N	0.11255	0.115	0.23572	N	0.997382	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.30416	-0.9979	10	0.09843	T	0.71	.	2.2535	0.04049	0.1419:0.4157:0.2764:0.1661	.	4;4	P49959-2;P49959	.;MRE11_HUMAN	S	4	ENSP00000325863:A4S;ENSP00000326094:A4S;ENSP00000376933:A4S;ENSP00000440986:A4S;ENSP00000439511:A4S	ENSP00000325863:A4S	A	-	1	0	MRE11A	93865606	0.867000	0.29959	0.427000	0.26684	0.159000	0.22180	-0.223000	0.09177	-0.420000	0.07427	0.561000	0.74099	GCA		0.423	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		A	94225958	C	A	94225958	3	1	237	1	0	0	0	0	1	0	0	0	9761	710	25	4	2192	4	MRE11A	11	94225958	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	28827962	94225958	40780558	59	14427											
ASB8	140461	hgsc.bcm.edu	37	12	48543736	48543736	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr12:48543736C>T	ENST00000317697.3	-	4	449	c.280G>A	c.(280-282)Gca>Aca	p.A94T	ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.A94T|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536071.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	94					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TCTTTCTCTGCTGCATAGTGG	0.498																																																0													67	62	64					12																	48543736		2203	4300	6503	SO:0001583	missense	140461			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"Ankyrin repeat domain containing"	17183	protein-coding gene	gene with protein product		615053	"ankyrin repeat and SOCS box-containing 8"			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.280G>A	chr12.hg19:g.48543736C>T	ENSP00000320893:p.Ala94Thr		A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	hg19	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172801	0.94807	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549;ENST00000539503;ENST00000545791;ENST00000540212	T;T;T;T;T	0.71934	-0.61;-0.61;-0.6;-0.37;-0.37	5.3	5.3	0.74995	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.81269	0.4787	L	0.49126	1.545	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.81008	-0.1127	10	0.51188	T	0.08	-9.6125	18.938	0.92594	0.0:1.0:0.0:0.0	.	94	Q9H765	ASB8_HUMAN	T	94	ENSP00000320893:A94T;ENSP00000445622:A94T;ENSP00000444093:A94T;ENSP00000437769:A94T;ENSP00000442639:A94T	ENSP00000320893:A94T	A	-	1	0	ASB8	46830003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.227000	0.78070	2.648000	0.89879	0.563000	0.77884	GCA		0.498	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			T	48543736	C	T	48543736	3	4	237	1	0	0	0	0	1	0	0	0	1029	797	28	2	590	2	ASB8	12	48543736	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10		48543736	85308159	60	14428											
GALNT6	11226	hgsc.bcm.edu	37	12	51758036	51758036	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr12:51758036delA	ENST00000543196.2	-	5	1123	c.918delT	c.(916-918)tttfs	p.F306fs	GALNT6_ENST00000356317.3_Frame_Shift_Del_p.F306fs			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	306					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGCGAACTCAAAAGTATTAA	0.577																																																0													91	85	87					12																	51758036		2203	4300	6503	SO:0001589	frameshift_variant	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.918delT	chr12.hg19:g.51758036delA	ENSP00000444171:p.Phe306fs		Q8IYH4|Q9H6G2|Q9UIV5	Frame_Shift_Del	DEL	ENST00000543196.2	hg19	CCDS8813.1																																																																																				0.577	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		-	51758036	A	-	51758036	7	5	237	1	0	1	0	1	0	0	0	0	6219	127	5	0	978	0	GALNT6	12	51758036	Frame_Shift_Del	DEL	A	TCGA-B1-A655-01A-11D-A31Z-10	3214300	51758036	82093859	61	14429											
ARHGAP5	394	hgsc.bcm.edu	37	14	32560648	32560648	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr14:32560648delA	ENST00000345122.3	+	2	1088	c.773delA	c.(772-774)tatfs	p.Y258fs	ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.Y258fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.Y258fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.Y258fs|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	258					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATTATTCCCTATTTGGATGCT	0.358																																					NSCLC(9;77 350 3443 29227 41353)											0													115	131	125					14																	32560648		2203	4299	6502	SO:0001589	frameshift_variant	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.773delA	chr14.hg19:g.32560648delA	ENSP00000371897:p.Tyr258fs		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Del	DEL	ENST00000345122.3	hg19	CCDS32062.1																																																																																				0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		-	32560648	A	-	32560648	7	5	237	1	0	1	0	1	0	0	0	0	886	449	16	0	775	0	ARHGAP5	14	32560648	Frame_Shift_Del	DEL	A	TCGA-B1-A655-01A-11D-A31Z-10		32560648	74788892	62	14430											
RGS6	9628	hgsc.bcm.edu	37	14	72939649	72939649	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr14:72939649delC	ENST00000553530.1	+	9	813	c.606delC	c.(604-606)gtcfs	p.V202fs	RGS6_ENST00000343854.6_Frame_Shift_Del_p.V202fs|RGS6_ENST00000402788.2_Frame_Shift_Del_p.V202fs|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000434263.2_Frame_Shift_Del_p.V133fs|RGS6_ENST00000554782.1_Frame_Shift_Del_p.V63fs|RGS6_ENST00000555571.1_Frame_Shift_Del_p.V202fs|RGS6_ENST00000556437.1_Frame_Shift_Del_p.V202fs|RGS6_ENST00000406236.4_Frame_Shift_Del_p.V202fs|RGS6_ENST00000407322.4_Frame_Shift_Del_p.V202fs|RGS6_ENST00000355512.6_Frame_Shift_Del_p.V202fs|RGS6_ENST00000553525.1_Frame_Shift_Del_p.V202fs|RGS6_ENST00000404301.2_Frame_Shift_Del_p.V202fs	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	202					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTTGGGATGTCCACAGGCCTG	0.373																																					Ovarian(143;1926 2468 21071 48641)											0													137	153	148					14																	72939649		2203	4300	6503	SO:0001589	frameshift_variant	9628			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.606delC	chr14.hg19:g.72939649delC	ENSP00000452331:p.Val202fs		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Frame_Shift_Del	DEL	ENST00000553530.1	hg19	CCDS9808.1																																																																																				0.373	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			-	72939649	C	-	72939649	7	5	237	1	0	1	0	1	0	0	0	0	13315	842	30	0	636	0	RGS6	14	72939649	Frame_Shift_Del	DEL	C	TCGA-B1-A655-01A-11D-A31Z-10	40379001	72939649	34409891	63	14431											
SERPINA12	145264	hgsc.bcm.edu	37	14	94964196	94964196	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr14:94964196A>C	ENST00000341228.2	-	3	1334	c.539T>G	c.(538-540)tTt>tGt	p.F180C	SERPINA12_ENST00000556881.1_Missense_Mutation_p.F180C	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	180					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTGACTGATAAAGTCATTGAT	0.393																																																0													93	91	92					14																	94964196		2203	4300	6503	SO:0001583	missense	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.539T>G	chr14.hg19:g.94964196A>C	ENSP00000342109:p.Phe180Cys			Missense_Mutation	SNP	ENST00000341228.2	hg19	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508445	0.27036	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84589	-1.87;-1.87	5.49	4.34	0.51931	Serpin domain (3);	0.119433	0.38111	N	0.001802	D	0.87692	0.6241	L	0.46819	1.47	0.20196	N	0.99993	D	0.71674	0.998	P	0.61275	0.886	T	0.80627	-0.1298	10	0.87932	D	0	.	11.607	0.51037	0.1385:0.0:0.0:0.8615	.	180	Q8IW75	SPA12_HUMAN	C	180	ENSP00000451738:F180C;ENSP00000342109:F180C	ENSP00000342109:F180C	F	-	2	0	SERPINA12	94033949	0.995000	0.38212	0.009000	0.14445	0.037000	0.13140	3.607000	0.54102	0.903000	0.36546	-0.339000	0.08088	TTT		0.393	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		C	94964196	A	C	94964196	3	2	237	1	0	0	0	0	1	0	0	0	14095	14	1	5	721	5	SERPINA12	14	94964196	Missense_Mutation	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	22024547	94964196	12385344	64	14432											
RASGRP1	10125	hgsc.bcm.edu	37	15	38798102	38798102	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr15:38798102T>C	ENST00000310803.5	-	10	1439	c.1262A>G	c.(1261-1263)tAc>tGc	p.Y421C	RASGRP1_ENST00000561180.1_Missense_Mutation_p.Y472C|RASGRP1_ENST00000450598.2_Missense_Mutation_p.Y421C|RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000558164.1_Missense_Mutation_p.Y421C|RASGRP1_ENST00000539159.1_Missense_Mutation_p.Y373C|RASGRP1_ENST00000559830.1_Missense_Mutation_p.Y421C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	421	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ATCCTCAGTGTAGTAAAGATC	0.448																																																0													75	74	74					15																	38798102		1892	4109	6001	SO:0001583	missense	10125			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1262A>G	chr15.hg19:g.38798102T>C	ENSP00000310244:p.Tyr421Cys		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	hg19	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.649116	0.67358	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.6	4.6	0.57074	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.69351	0.3101	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.91635	0.999;0.976;0.989;0.995	T	0.74278	-0.3717	10	0.62326	D	0.03	-19.3572	14.1614	0.65450	0.0:0.0:0.0:1.0	.	421;421;421;421	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	C	421;421;421;421;373;421;421	ENSP00000310244:Y421C;ENSP00000388540:Y421C;ENSP00000444762:Y373C;ENSP00000413105:Y421C	ENSP00000310244:Y421C	Y	-	2	0	RASGRP1	36585394	1.000000	0.71417	0.998000	0.56505	0.724000	0.41520	7.525000	0.81892	1.909000	0.55274	0.533000	0.62120	TAC		0.448	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		C	38798102	T	C	38798102	3	2	237	1	0	0	0	0	1	0	0	0	13080	1638	57	3	1163	3	RASGRP1	15	38798102	Missense_Mutation	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10		38798102	63733290	65	14433											
DISP2	85455	hgsc.bcm.edu	37	15	40660678	40660678	+	Missense_Mutation	SNP	C	C	G	rs375551948		TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr15:40660678C>G	ENST00000267889.3	+	8	2452	c.2365C>G	c.(2365-2367)Cct>Gct	p.P789A	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	789					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCCTCTGGACCCTCGTAGCAA	0.687																																																0													76	84	81					15																	40660678		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2365C>G	chr15.hg19:g.40660678C>G	ENSP00000267889:p.Pro789Ala		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	hg19	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158992	0.57368	.	.	ENSG00000140323	ENST00000267889	T	0.30981	1.51	5.14	4.2	0.49525	.	0.052280	0.85682	D	0.000000	T	0.58119	0.2100	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63651	-0.6589	10	0.48119	T	0.1	-12.1506	14.8747	0.70485	0.1445:0.8555:0.0:0.0	.	789	A7MBM2	DISP2_HUMAN	A	789	ENSP00000267889:P789A	ENSP00000267889:P789A	P	+	1	0	DISP2	38447970	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	7.645000	0.83430	1.343000	0.45638	0.561000	0.74099	CCT		0.687	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		G	40660678	C	G	40660678	3	3	237	1	0	0	0	0	1	0	0	0	4542	623	22	4	2395	4	DISP2	15	40660678	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	1862576	40660678	61870714	66	14434											
MGA	23269	hgsc.bcm.edu	37	15	42005518	42005518	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr15:42005518G>C	ENST00000570161.1	+	8	3254	c.3254G>C	c.(3253-3255)aGa>aCa	p.R1085T	MGA_ENST00000389936.4_Missense_Mutation_p.R1085T|MGA_ENST00000545763.1_Missense_Mutation_p.R1085T|MGA_ENST00000566586.1_Missense_Mutation_p.R1085T|MGA_ENST00000219905.7_Missense_Mutation_p.R1085T			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTTTGAAAAGAAAAGTTGTA	0.458																																																0													98	94	96					15																	42005518		1937	4124	6061	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3254G>C	chr15.hg19:g.42005518G>C	ENSP00000457035:p.Arg1085Thr		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245765	0.80024	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.17370	2.28;2.28;2.28	5.75	5.75	0.90469	.	0.177622	0.46758	D	0.000265	T	0.28433	0.0703	L	0.27053	0.805	0.35184	D	0.772759	D;D	0.76494	0.997;0.999	D;D	0.73708	0.981;0.931	T	0.25779	-1.0122	10	0.87932	D	0	.	13.1821	0.59660	0.0727:0.0:0.9273:0.0	.	1085;1085	F5H7K2;E7ENI0	.;.	T	1085	ENSP00000219905:R1085T;ENSP00000374586:R1085T;ENSP00000442467:R1085T	ENSP00000219905:R1085T	R	+	2	0	MGA	39792810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.511000	0.53400	2.716000	0.92895	0.655000	0.94253	AGA		0.458	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		C	42005518	G	C	42005518	3	2	237	1	0	0	0	0	1	0	0	0	9542	942	33	4	3284	4	MGA	15	42005518	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	1344840	42005518	60525874	67	14435											
CEP152	22995	hgsc.bcm.edu	37	15	49074426	49074426	+	Splice_Site	DEL	C	C	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr15:49074426delC	ENST00000380950.2	-	11	1510	c.1323delG	c.(1321-1323)ggg>gg	p.G441fs	CEP152_ENST00000399334.3_Splice_Site_p.G441fs|CEP152_ENST00000325747.5_Splice_Site_p.G348fs|RP11-485O10.2_ENST00000558304.1_RNA	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	441					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTTGTACTGACCCTGCAGAGG	0.443																																																0													86	82	83					15																	49074426		1973	4175	6148	SO:0001630	splice_region_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1322-1G>-	chr15.hg19:g.49074426delC			E7ER66|Q17RV1|Q6NTA0	Frame_Shift_Del	DEL	ENST00000380950.2	hg19	CCDS58361.1																																																																																				0.443	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	Frame_Shift_Del	-	49074426	C	-	49074426	8	5	237	1	0	1	0	1	0	0	1	0	3250	521	18	0	3705	0	CEP152	15	49074426	Splice_Site	DEL	C	TCGA-B1-A655-01A-11D-A31Z-10	7068908	49074426	53456966	68	14436											
ALPK3	57538	hgsc.bcm.edu	37	15	85400827	85400827	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr15:85400827A>T	ENST00000258888.5	+	6	3631	c.3464A>T	c.(3463-3465)gAc>gTc	p.D1155V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1155					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGAGCTGTGACCCTGGCCTC	0.627																																																0													42	49	47					15																	85400827		2203	4299	6502	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3464A>T	chr15.hg19:g.85400827A>T	ENSP00000258888:p.Asp1155Val		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	hg19	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.792367	0.70452	.	.	ENSG00000136383	ENST00000258888	T	0.68624	-0.34	5.17	5.17	0.71159	.	0.513935	0.19872	N	0.104179	T	0.72590	0.3479	L	0.32530	0.975	0.54753	D	0.999988	D	0.89917	1.0	D	0.85130	0.997	T	0.74607	-0.3609	10	0.72032	D	0.01	-24.6636	11.4077	0.49908	1.0:0.0:0.0:0.0	.	1155	Q96L96	ALPK3_HUMAN	V	1155	ENSP00000258888:D1155V	ENSP00000258888:D1155V	D	+	2	0	ALPK3	83201831	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.636000	0.46545	1.958000	0.56883	0.460000	0.39030	GAC		0.627	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		T	85400827	A	T	85400827	3	4	237	1	0	0	0	0	1	0	0	0	546	275	10	5	3486	5	ALPK3	15	85400827	Missense_Mutation	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	36326401	85400827	17130565	69	14437											
CACNA1H	8912	hgsc.bcm.edu	37	16	1268594	1268594	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr16:1268594C>A	ENST00000348261.5	+	33	6078	c.5830C>A	c.(5830-5832)Cac>Aac	p.H1944N	CACNA1H_ENST00000565831.1_Missense_Mutation_p.H1938N|CACNA1H_ENST00000358590.4_Missense_Mutation_p.H1938N	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1944					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTCGGCGCCCCACCCCCGCCC	0.662																																																0													14	17	16					16																	1268594		1988	4120	6108	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5830C>A	chr16.hg19:g.1268594C>A	ENSP00000334198:p.His1944Asn		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	hg19	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	7.903	0.734914	0.15574	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96554	-4.05;-3.99	3.75	1.55	0.23275	.	3.133360	0.01371	N	0.012566	D	0.90823	0.7118	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.30973	0.034;0.029;0.0;0.302;0.039	B;B;B;B;B	0.24006	0.023;0.021;0.0;0.05;0.015	D	0.84424	0.0573	10	0.27082	T	0.32	.	2.7944	0.05397	0.2401:0.5032:0.0:0.2567	.	690;679;685;1938;1944	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	N	1944;1938	ENSP00000334198:H1944N;ENSP00000351401:H1938N	ENSP00000334198:H1944N	H	+	1	0	CACNA1H	1208595	0.947000	0.32204	0.001000	0.08648	0.001000	0.01503	0.399000	0.20916	0.806000	0.34183	0.563000	0.77884	CAC		0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		A	1268594	C	A	1268594	3	1	237	1	0	0	0	0	1	0	0	0	2547	594	21	4	5956	4	CACNA1H	16	1268594	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10		1268594	89086159	70	14438											
ZKSCAN2	342357	hgsc.bcm.edu	37	16	25266603	25266603	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr16:25266603C>G	ENST00000328086.7	-	2	1313	c.510G>C	c.(508-510)gaG>gaC	p.E170D		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	170					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCCAGGTTCCTCCCGAGACA	0.622																																																0													88	78	82					16																	25266603		2197	4300	6497	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.510G>C	chr16.hg19:g.25266603C>G	ENSP00000331626:p.Glu170Asp		A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	hg19	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660995	0.47572	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.14766	2.48	5.3	-2.75	0.05914	.	0.376195	0.25654	N	0.029181	T	0.11495	0.0280	L	0.55743	1.74	0.29398	N	0.862144	B;B	0.20550	0.046;0.003	B;B	0.27608	0.081;0.005	T	0.11251	-1.0595	10	0.52906	T	0.07	-11.4516	6.0464	0.19762	0.0:0.4411:0.1273:0.4316	.	170;170	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	D	170	ENSP00000331626:E170D	ENSP00000331626:E170D	E	-	3	2	ZKSCAN2	25174104	0.027000	0.19231	0.445000	0.26908	0.501000	0.33797	-1.330000	0.02675	-0.703000	0.05049	0.555000	0.69702	GAG		0.622	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		G	25266603	C	G	25266603	3	3	237	1	0	0	0	0	1	0	0	0	17692	680	24	4	2417	4	ZKSCAN2	16	25266603	Missense_Mutation	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	23998009	25266603	65088150	71	14439											
TP53	7157	hgsc.bcm.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:7578271T>G	ENST00000269305.4	-	6	767	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000420246.2_Missense_Mutation_p.H193P	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	GRCh37	CM083194|CM951225	TP53	M							97	87	90					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>C	chr17.hg19:g.7578271T>G	ENSP00000269305:p.His193Pro		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	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.377907	0.42105	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99855	-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2	5.41	4.33	0.51752	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	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999998	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;1.0;1.0;1.0;1.0;1.0	D	0.97320	0.9943	10	0.87932	D	0	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193P;ENSP00000352610:H193P;ENSP00000269305:H193P;ENSP00000398846:H193P;ENSP00000391127:H193P;ENSP00000391478:H193P;ENSP00000425104:H61P;ENSP00000423862:H100P	ENSP00000269305:H193P	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578271	T	G	7578271	3	3	237	1	0	0	0	0	1	0	0	0	16386	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10		7578271	73616939	72	14440											
STARD3	10948	hgsc.bcm.edu	37	17	37814678	37814685	+	Frame_Shift_Del	DEL	TGGCTACC	TGGCTACC	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	TGGCTACC	TGGCTACC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:37814678_37814685delTGGCTACC	ENST00000336308.5	+	6	668_675	c.450_457delTGGCTACC	c.(448-459)tttggctacctgfs	p.GYL151fs	STARD3_ENST00000544210.2_Frame_Shift_Del_p.LAT146fs|STARD3_ENST00000394250.4_Frame_Shift_Del_p.GYL133fs|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000580611.1_Frame_Shift_Del_p.GYL125fs	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	151	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGGGGCATTTGGCTACCTGCTCCCCAT	0.582																																																0																																										SO:0001589	frameshift_variant	10948				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.450_457delTGGCTACC	chr17.hg19:g.37814678_37814685delTGGCTACC	ENSP00000337446:p.Gly151fs		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Frame_Shift_Del	DEL	ENST00000336308.5	hg19	CCDS11341.1																																																																																				0.582	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			-	37814685	TGGCTACC	-	37814678	7	5	237	1	0	1	0	1	0	0	0	0	15262	1821	63	0	468	0	STARD3	17	37814678	Frame_Shift_Del	DEL	TGGCTACC	TCGA-B1-A655-01A-11D-A31Z-10	30236407	37814678	43380532	73	14441											
BRCA1	672	hgsc.bcm.edu	37	17	41203099	41203099	+	Silent	SNP	G	G	A	rs273901762		TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:41203099G>A	ENST00000357654.3	-	20	5431	c.5313C>T	c.(5311-5313)ccC>ccT	p.P1771P	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Silent_p.P629P|BRCA1_ENST00000309486.4_Silent_p.P1475P|BRCA1_ENST00000471181.2_Silent_p.P1792P|BRCA1_ENST00000346315.3_Silent_p.P1532P|BRCA1_ENST00000491747.2_Silent_p.P667P|BRCA1_ENST00000354071.3_Silent_p.P1506P|BRCA1_ENST00000591534.1_Silent_p.P262P|BRCA1_ENST00000586385.1_Silent_p.P81P|BRCA1_ENST00000351666.3_Silent_p.P588P|BRCA1_ENST00000493795.1_Silent_p.P1724P|BRCA1_ENST00000468300.1_Silent_p.P667P	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1771	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTTGGTGAAGGGCCCATAGC	0.478			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													70	69	69					17																	41203099		2203	4300	6503	SO:0001819	synonymous_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5313C>T	chr17.hg19:g.41203099G>A			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	hg19	CCDS11453.1																																																																																				0.478	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		A	41203099	G	A	41203099	2	1	237	1	0	0	0	0	0	0	0	1	1500	987	35	2		2	BRCA1	17	41203099	Silent	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	3388421	41203099	39992111	74	14442											
HEATR6	63897	hgsc.bcm.edu	37	17	58121036	58121036	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:58121036G>T	ENST00000184956.6	-	20	3450	c.3434C>A	c.(3433-3435)cCa>cAa	p.P1145Q	AC005702.4_ENST00000583144.1_RNA|MIR4737_ENST00000583979.1_RNA|HEATR6_ENST00000585976.1_Missense_Mutation_p.P1033Q|AC005702.2_ENST00000577558.1_RNA|AC005702.3_ENST00000582298.1_RNA|AC005702.1_ENST00000581326.1_RNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1145							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTCTCCAGTTGGTGCCTGGAT	0.542																																																0													129	115	120					17																	58121036		2203	4300	6503	SO:0001583	missense	63897			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3434C>A	chr17.hg19:g.58121036G>T	ENSP00000184956:p.Pro1145Gln		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	hg19	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	0.083	-1.180886	0.01633	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.64438	-0.1	4.96	0.0386	0.14201	Armadillo-type fold (1);	1.078860	0.07032	N	0.828585	T	0.32941	0.0846	N	0.03608	-0.345	0.09310	N	1	B;B	0.17268	0.021;0.0	B;B	0.13407	0.009;0.001	T	0.19451	-1.0305	10	0.20519	T	0.43	0.0678	3.9945	0.09551	0.5137:0.0:0.2773:0.209	.	880;1145	E7ESB9;Q6AI08	.;HEAT6_HUMAN	Q	1145;880	ENSP00000184956:P1145Q	ENSP00000184956:P1145Q	P	-	2	0	HEATR6	55475818	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.029000	0.12329	0.348000	0.23949	-0.312000	0.09012	CCA		0.542	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		T	58121036	G	T	58121036	3	4	237	1	0	0	0	0	1	0	0	0	7035	1348	47	4	115	4	HEATR6	17	58121036	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	16917937	58121036	23074174	75	14443											
HELZ	9931	hgsc.bcm.edu	37	17	65162707	65162707	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:65162707T>C	ENST00000358691.5	-	15	1948	c.1782A>G	c.(1780-1782)caA>caG	p.Q594Q	HELZ_ENST00000580168.1_Silent_p.Q594Q	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	594						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATCGATTTAATTGAAACTGAA	0.393																																																0													104	96	98					17																	65162707		1858	4110	5968	SO:0001819	synonymous_variant	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1782A>G	chr17.hg19:g.65162707T>C			I6L9H4	Silent	SNP	ENST00000358691.5	hg19	CCDS42374.1																																																																																				0.393	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		C	65162707	T	C	65162707	2	2	237	1	0	0	0	0	0	0	0	1	7051	1490	52	3		3	HELZ	17	65162707	Silent	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10	7041671	65162707	16032503	76	14444											
FSCN2	25794	hgsc.bcm.edu	37	17	79496379	79496379	+	Silent	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:79496379G>A	ENST00000417245.2	+	1	958	c.822G>A	c.(820-822)cgG>cgA	p.R274R	RP13-766D20.2_ENST00000442532.1_RNA|RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Silent_p.R274R	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	274					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCTCTGTGCGGCAAGGTAGGG	0.647																																																0													9	10	10					17																	79496379		2169	4246	6415	SO:0001819	synonymous_variant	25794			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.822G>A	chr17.hg19:g.79496379G>A			A0AVC4|A8MRA6	Silent	SNP	ENST00000417245.2	hg19	CCDS45811.1																																																																																				0.647	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		A	79496379	G	A	79496379	2	1	237	1	0	0	0	0	0	0	0	1	6070	1190	42	2		2	FSCN2	17	79496379	Silent	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	14333672	79496379	1698831	77	14445											
PCYT2	5833	hgsc.bcm.edu	37	17	79865647	79865647	+	Splice_Site	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:79865647A>G	ENST00000538936.2	-	5	601		c.e5+1		PCYT2_ENST00000538721.2_Splice_Site|PCYT2_ENST00000571105.1_Splice_Site|PCYT2_ENST00000570388.1_Splice_Site|PCYT2_ENST00000331285.3_Splice_Site|PCYT2_ENST00000570391.1_Splice_Site	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	CCGCCGACTCACCTGGCTGCT	0.667																																																0													55	45	49					17																	79865647		2203	4300	6503	SO:0001630	splice_region_variant	5833			D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.492+1T>C	chr17.hg19:g.79865647A>G			B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Splice_Site	SNP	ENST00000538936.2	hg19	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.829822	0.50845	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2492	0.54589	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCYT2	77458939	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	8.242000	0.89818	1.812000	0.52913	0.459000	0.35465	.		0.667	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861	Intron	G	79865647	A	G	79865647	5	3	237	1	0	0	0	0	0	0	1	0	11614	173	6	3	769	3	PCYT2	17	79865647	Splice_Site	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	369268	79865647	1329563	78	14446											
KCNG2	26251	hgsc.bcm.edu	37	18	77659162	77659162	+	Silent	SNP	G	G	A	rs140841838		TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr18:77659162G>A	ENST00000316249.3	+	2	747	c.747G>A	c.(745-747)gcG>gcA	p.A249A	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	249					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TCCTGCGCGCGCCACTCAACA	0.677																																																0								G		0,4404		0,0,2202	43	39	40		747	-3.4	0	18	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNG2	NM_012283.1		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		249/467	77659162	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	26251			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.747G>A	chr18.hg19:g.77659162G>A				Silent	SNP	ENST00000316249.3	hg19	CCDS12019.1																																																																																				0.677	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		A	77659162	G	A	77659162	2	1	237	1	0	0	0	0	0	0	0	1	8030	1074	38	1		1	KCNG2	18	77659162	Silent	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10		77659162	418086	79	14447											
ICAM1	3383	hgsc.bcm.edu	37	19	10395839	10395839	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr19:10395839T>A	ENST00000264832.3	+	7	1800	c.1475T>A	c.(1474-1476)aTa>aAa	p.I492K	ICAM4_ENST00000380770.3_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.I270K|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	492					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	GCCGCAGTCATAATGGGCACT	0.547																																																0													103	105	104					19																	10395839		2203	4300	6503	SO:0001583	missense	3383				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1475T>A	chr19.hg19:g.10395839T>A	ENSP00000264832:p.Ile492Lys		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	hg19	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941110	0.34283	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.05199	4.24;3.48	5.22	3.07	0.35406	.	4.242400	0.00744	N	0.001020	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.27286	0.142;0.174	B;B	0.22880	0.042;0.028	T	0.29305	-1.0016	10	0.42905	T	0.14	-14.6127	4.9491	0.14004	0.1651:0.0921:0.0:0.7428	.	270;492	E7ESS4;P05362	.;ICAM1_HUMAN	K	492;270	ENSP00000264832:I492K;ENSP00000413124:I270K	ENSP00000264832:I492K	I	+	2	0	ICAM1	10256839	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	0.007000	0.13174	0.909000	0.36697	0.459000	0.35465	ATA		0.547	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			A	10395839	T	A	10395839	3	1	237	1	0	0	0	0	1	0	0	0	7481	1406	49	5	1501	5	ICAM1	19	10395839	Missense_Mutation	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10		10395839	48733144	80	14448											
CACNA1A	773	hgsc.bcm.edu	37	19	13418985	13418985	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr19:13418985delA	ENST00000360228.5	-	14	1861	c.1862delT	c.(1861-1863)ttcfs	p.F621fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.F622fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	622					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AATGAACAGGAAAAGGAGAAA	0.542																																																0													95	98	97					19																	13418985		2088	4230	6318	SO:0001589	frameshift_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1862delT	chr19.hg19:g.13418985delA	ENSP00000353362:p.Phe621fs		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Del	DEL	ENST00000360228.5	hg19	CCDS45998.1																																																																																				0.542	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		-	13418985	A	-	13418985	7	5	237	1	0	1	0	1	0	0	0	0	2540	246	9	0	5905	0	CACNA1A	19	13418985	Frame_Shift_Del	DEL	A	TCGA-B1-A655-01A-11D-A31Z-10	3023146	13418985	45709998	81	14449											
PLEKHG2	64857	hgsc.bcm.edu	37	19	39913652	39913652	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr19:39913652G>A	ENST00000409794.3	+	18	2808	c.1958G>A	c.(1957-1959)gGt>gAt	p.G653D	CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.G624D|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G594D	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	653					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATTCCCGAAGGTTCTCGCCTT	0.517																																																0													95	100	98					19																	39913652		2203	4300	6503	SO:0001583	missense	64857			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1958G>A	chr19.hg19:g.39913652G>A	ENSP00000386733:p.Gly653Asp		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	hg19	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.825|2.825	-0.243916|-0.243916	0.05906|0.05906	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508|ENST00000205135	T;T;T|.	0.69040|.	-0.25;-0.25;-0.37|.	3.44|3.44	0.133|0.133	0.14766|0.14766	.|.	1.062390|.	0.07458|.	N|.	0.900138|.	T|T	0.14830|0.14830	0.0358|0.0358	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30361|.	0.263;0.261;0.277|.	B;B;B|.	0.25987|.	0.065;0.044;0.043|.	T|T	0.26121|0.26121	-1.0112|-1.0112	10|5	0.46703|.	T|.	0.11|.	.|.	4.0591|4.0591	0.09831|0.09831	0.0:0.2305:0.195:0.5745|0.0:0.2305:0.195:0.5745	.|.	624;653;594|.	Q9H7P9-3;Q9H7P9;E7ESZ3|.	.;PKHG2_HUMAN;.|.	D|I	653;624;594|521	ENSP00000386733:G653D;ENSP00000392906:G624D;ENSP00000408857:G594D|.	ENSP00000386733:G653D|.	G|V	+|+	2|1	0|0	PLEKHG2|PLEKHG2	44605492|44605492	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.010000|0.010000	0.07245|0.07245	-0.226000|-0.226000	0.09139|0.09139	-0.034000|-0.034000	0.13713|0.13713	-0.467000|-0.467000	0.05162|0.05162	GGT|GTT		0.517	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		A	39913652	G	A	39913652	3	1	237	1	0	0	0	0	1	0	0	0	12071	1261	44	2	2024	2	PLEKHG2	19	39913652	Missense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10	26494667	39913652	19215331	82	14450											
TRPM4	54795	hgsc.bcm.edu	37	19	49674876	49674876	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr19:49674876C>T	ENST00000252826.5	+	8	1026	c.900C>T	c.(898-900)ctC>ctT	p.L300L	TRPM4_ENST00000427978.2_Silent_p.L300L|TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Silent_p.L17L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	300					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CATGTCTCCTCGTGGCTGGCT	0.592																																																0													37	42	41					19																	49674876		2202	4300	6502	SO:0001819	synonymous_variant	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.900C>T	chr19.hg19:g.49674876C>T			A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	hg19	CCDS33073.1																																																																																				0.592	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		T	49674876	C	T	49674876	2	4	237	1	0	0	0	0	0	0	0	1	16593	871	31	1		1	TRPM4	19	49674876	Silent	SNP	C	TCGA-B1-A655-01A-11D-A31Z-10	9761224	49674876	9454107	83	14451											
ZNF175	7728	hgsc.bcm.edu	37	19	52091298	52091298	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr19:52091298T>C	ENST00000262259.2	+	5	2072	c.1714T>C	c.(1714-1716)Tct>Cct	p.S572P	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	572					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CACTTCTAAGTCTCAATTCAA	0.453																																																0													87	85	86					19																	52091298		2203	4300	6503	SO:0001583	missense	7728			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1714T>C	chr19.hg19:g.52091298T>C	ENSP00000262259:p.Ser572Pro		A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	hg19	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.354614	0.41700	.	.	ENSG00000105497	ENST00000262259	T	0.18657	2.2	2.18	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36963	0.0986	M	0.78344	2.41	0.09310	N	0.999999	D	0.65815	0.995	P	0.57911	0.829	T	0.13255	-1.0516	9	0.72032	D	0.01	.	6.4454	0.21873	0.0:0.0:0.2498:0.7502	.	572	Q9Y473	ZN175_HUMAN	P	572	ENSP00000262259:S572P	ENSP00000262259:S572P	S	+	1	0	ZNF175	56783110	0.000000	0.05858	0.703000	0.30354	0.992000	0.81027	-0.482000	0.06544	0.258000	0.21686	0.533000	0.62120	TCT		0.453	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		C	52091298	T	C	52091298	3	2	237	1	0	0	0	0	1	0	0	0	17750	1667	58	3	1728	3	ZNF175	19	52091298	Missense_Mutation	SNP	T	TCGA-B1-A655-01A-11D-A31Z-10	2416422	52091298	7037685	84	14452											
NFATC2	4773	hgsc.bcm.edu	37	20	50051812	50051813	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr20:50051812_50051813delGC	ENST00000396009.3	-	8	2163_2164	c.1944_1945delGC	c.(1942-1947)aagcatfs	p.H649fs	NFATC2_ENST00000610033.1_Frame_Shift_Del_p.H430fs|NFATC2_ENST00000371564.3_Frame_Shift_Del_p.H649fs|NFATC2_ENST00000609943.1_Frame_Shift_Del_p.H629fs|NFATC2_ENST00000609507.1_Frame_Shift_Del_p.H430fs|NFATC2_ENST00000414705.1_Frame_Shift_Del_p.H629fs	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	649					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTGCGGATATGCTTGTTCCGAT	0.436																																																0																																										SO:0001589	frameshift_variant	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1944_1945delGC	chr20.hg19:g.50051812_50051813delGC	ENSP00000379330:p.His649fs		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Frame_Shift_Del	DEL	ENST00000396009.3	hg19	CCDS13437.1																																																																																				0.436	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		-	50051813	GC	-	50051812	7	5	237	1	0	1	0	1	0	0	0	0	10364	1319	46	0	892	0	NFATC2	20	50051812	Frame_Shift_Del	DEL	GC	TCGA-B1-A655-01A-11D-A31Z-10		50051812	12973708	85	14453											
BRWD1	54014	hgsc.bcm.edu	37	21	40665927	40665927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr21:40665927G>T	ENST00000333229.2	-	8	968	c.641C>A	c.(640-642)tCa>tAa	p.S214*	BRWD1_ENST00000342449.3_Nonsense_Mutation_p.S214*|BRWD1_ENST00000380800.3_Nonsense_Mutation_p.S214*	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	214					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTATGTGTTGACCAAATCTT	0.328																																					Melanoma(170;988 1986 4794 16843 39731)											0													82	77	79					21																	40665927		2203	4300	6503	SO:0001587	stop_gained	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.641C>A	chr21.hg19:g.40665927G>T	ENSP00000330753:p.Ser214*		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Nonsense_Mutation	SNP	ENST00000333229.2	hg19	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	37	6.060061	0.97246	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	.	.	.	5.12	4.18	0.49190	.	0.110931	0.39985	N	0.001212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.83	15.0594	0.71939	0.0:0.1423:0.8577:0.0	.	.	.	.	X	214	.	ENSP00000330753:S214X	S	-	2	0	BRWD1	39587797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.477000	0.73591	2.388000	0.81334	0.655000	0.94253	TCA		0.328	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		T	40665927	G	T	40665927	4	4	237	1	0	0	0	0	0	1	0	0	1527	1294	45	4	6700	4	BRWD1	21	40665927	Nonsense_Mutation	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10		40665927	7463968	86	14454											
RFPL3	10738	hgsc.bcm.edu	37	22	32754194	32754195	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr22:32754194_32754195TA>AT	ENST00000249007.4	+	1	341_342	c.136_137TA>AT	c.(136-138)TAt>ATt	p.Y46I	RFPL3_ENST00000397468.1_Missense_Mutation_p.Y17I|RFPL3_ENST00000382088.3_Missense_Mutation_p.Y17I|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	46							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CTGCTCAGACTATCTGGAAAAA	0.52																																																0																																										SO:0001583	missense	10738			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	Exception_encountered	chr22.hg19:g.32754194_32754195delinsAT	ENSP00000249007:p.Tyr46Ile		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	hg19	CCDS43011.1																																																																																				0.52	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		AT	32754195	TA	AT	32754194	3	1	237	1	0	0	0	0	1	0	0	0	13261	1522	53	5	138	5	RFPL3	22	32754194	Missense_Mutation	DNP	TA	TCGA-B1-A655-01A-11D-A31Z-10		32754194	18550372	87	14455											
ERCC6L	54821	hgsc.bcm.edu	37	X	71427693	71427693	+	Silent	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chrX:71427693G>T	ENST00000334463.3	-	2	1059	c.924C>A	c.(922-924)gcC>gcA	p.A308A	ERCC6L_ENST00000373657.1_Silent_p.A185A|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	308					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TAAATCCCAAGGCTTTTTCTC	0.388																																																0													80	82	81					X																	71427693		2203	4299	6502	SO:0001819	synonymous_variant	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.924C>A	chrX.hg19:g.71427693G>T			Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	hg19	CCDS35329.1																																																																																				0.388	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		T	71427693	G	T	71427693	2	4	237	1	0	0	0	0	0	0	0	1	5220	987	35	4		4	ERCC6L	23	71427693	Silent	SNP	G	TCGA-B1-A655-01A-11D-A31Z-10		71427693	83842867	88	14456											
TCEAL4	79921	hgsc.bcm.edu	37	X	102841991	102841991	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chrX:102841991A>G	ENST00000472745.1	+	3	940	c.388A>G	c.(388-390)Act>Gct	p.T130A	TCEAL4_ENST00000415568.2_Missense_Mutation_p.T130A|TCEAL4_ENST00000494801.1_Missense_Mutation_p.T130A|TCEAL4_ENST00000468024.1_Missense_Mutation_p.T130A|TCEAL4_ENST00000372629.4_Missense_Mutation_p.T273A|TCEAL4_ENST00000472484.1_Missense_Mutation_p.T130A			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CAAAAGAAAAACTAATAAGGG	0.458																																																0													103	105	104					X																	102841991		2203	4300	6503	SO:0001583	missense	79921			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.388A>G	chrX.hg19:g.102841991A>G	ENSP00000424314:p.Thr130Ala		Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	ENST00000472745.1	hg19	CCDS14510.2	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208774	0.58343	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000472745;ENST00000494801	T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89	3.99	2.8	0.32819	.	0.000000	0.48767	D	0.000161	T	0.24812	0.0602	M	0.74258	2.255	0.24242	N	0.995359	D	0.67145	0.996	P	0.62649	0.905	T	0.03296	-1.1051	10	0.56958	D	0.05	.	6.7545	0.23505	0.7622:0.2378:0.0:0.0	.	130	Q96EI5	TCAL4_HUMAN	A	273;130;130;130;101;130;130	ENSP00000361712:T273A;ENSP00000421857:T130A;ENSP00000421156:T130A;ENSP00000415564:T130A;ENSP00000424314:T130A;ENSP00000427494:T130A	ENSP00000361712:T273A	T	+	1	0	TCEAL4	102728647	1.000000	0.71417	0.931000	0.37212	0.715000	0.41141	1.685000	0.37659	0.692000	0.31613	0.352000	0.21897	ACT		0.458	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2	NM_024863		G	102841991	A	G	102841991	3	3	237	1	0	0	0	0	1	0	0	0	15678	43	2	3	390	3	TCEAL4	23	102841991	Missense_Mutation	SNP	A	TCGA-B1-A655-01A-11D-A31Z-10	31414298	102841991	52428569	89	14457											
GABRD	2563	hgsc.bcm.edu	37	1	1960690	1960690	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:1960690G>A	ENST00000378585.4	+	7	915	c.832G>A	c.(832-834)Gcc>Acc	p.A278T		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	278					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCGGTGCCCGCCAGGGTGTC	0.682																																																0													37	32	34					1																	1960690		2180	4269	6449	SO:0001583	missense	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.832G>A	chr1.hg19:g.1960690G>A	ENSP00000367848:p.Ala278Thr		Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	hg19	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624127	0.87560	.	.	ENSG00000187730	ENST00000378585	D	0.86164	-2.08	4.23	4.23	0.50019	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96541	0.9400	10	0.87932	D	0	-18.1939	16.1634	0.81734	0.0:0.0:1.0:0.0	.	278	O14764	GBRD_HUMAN	T	278	ENSP00000367848:A278T	ENSP00000367848:A278T	A	+	1	0	GABRD	1950550	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	9.302000	0.96175	2.367000	0.80283	0.655000	0.94253	GCC		0.682	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		A	1960690	G	A	1960690	3	1	238	1	0	0	0	0	1	0	0	0	6171	1087	38	1	858	1	GABRD	1	1960690	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10		1960690	247289931	1	14458											
FGR	2268	hgsc.bcm.edu	37	1	27943445	27943445	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:27943445T>A	ENST00000374005.3	-	7	893	c.605A>T	c.(604-606)aAa>aTa	p.K202I	FGR_ENST00000399173.1_Missense_Mutation_p.K202I|FGR_ENST00000545953.1_Missense_Mutation_p.K136I|FGR_ENST00000374004.1_Missense_Mutation_p.K202I	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	202	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CATGTCCAGTTTGCGGATCTT	0.562																																																0													172	152	159					1																	27943445		2203	4300	6503	SO:0001583	missense	2268			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.605A>T	chr1.hg19:g.27943445T>A	ENSP00000363117:p.Lys202Ile		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	hg19	CCDS305.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098543	0.56183	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	4.38	4.38	0.52667	SH2 motif (5);	0.000000	0.56097	D	0.000024	D	0.90662	0.7071	M	0.81497	2.545	0.32422	N	0.549198	B	0.22080	0.064	B	0.36289	0.221	D	0.92358	0.5895	10	0.62326	D	0.03	.	13.1133	0.59285	0.0:0.0:0.0:1.0	.	202	P09769	FGR_HUMAN	I	202;136;202;202;202;202	ENSP00000363117:K202I;ENSP00000445302:K136I;ENSP00000382126:K202I;ENSP00000363116:K202I;ENSP00000363115:K202I;ENSP00000407670:K202I	ENSP00000363115:K202I	K	-	2	0	FGR	27816032	1.000000	0.71417	0.927000	0.36925	0.561000	0.35649	8.040000	0.89188	1.903000	0.55091	0.402000	0.26972	AAA		0.562	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		A	27943445	T	A	27943445	3	1	238	1	0	0	0	0	1	0	0	0	5876	1841	64	5	1012	5	FGR	1	27943445	Missense_Mutation	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	25982755	27943445	221307176	2	14459											
MRPS15	64960	hgsc.bcm.edu	37	1	36921882	36921882	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:36921882A>G	ENST00000373116.5	-	7	703	c.542T>C	c.(541-543)aTa>aCa	p.I181T	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	181					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCCAGCATATCTTCTCAAA	0.498																																																0													93	87	89					1																	36921882		2203	4300	6503	SO:0001583	missense	64960			AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"Mitochondrial ribosomal proteins / small subunits"	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.542T>C	chr1.hg19:g.36921882A>G	ENSP00000362208:p.Ile181Thr		B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	hg19	CCDS411.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.615508	0.00828	.	.	ENSG00000116898	ENST00000373116	.	.	.	6.17	-2.05	0.07321	S15/NS1, RNA-binding (2);	0.501132	0.23960	N	0.042864	T	0.19846	0.0477	N	0.14661	0.345	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.29971	-0.9994	9	0.07813	T	0.8	-14.528	12.7078	0.57070	0.5586:0.0:0.4414:0.0	.	181	P82914	RT15_HUMAN	T	181	.	ENSP00000362208:I181T	I	-	2	0	MRPS15	36694469	0.606000	0.26949	0.007000	0.13788	0.015000	0.08874	1.243000	0.32767	-0.243000	0.09653	-0.899000	0.02877	ATA		0.498	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		G	36921882	A	G	36921882	3	3	238	1	0	0	0	0	1	0	0	0	9827	449	16	3	239	3	MRPS15	1	36921882	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10	8978437	36921882	212328739	3	14460											
BCAR3	8412	hgsc.bcm.edu	37	1	94033045	94033045	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:94033045G>C	ENST00000370244.1	-	13	2378	c.2090C>G	c.(2089-2091)tCc>tGc	p.S697C	BCAR3_ENST00000260502.6_Missense_Mutation_p.S697C|BCAR3_ENST00000370247.3_Missense_Mutation_p.S606C|BCAR3_ENST00000370243.1_Missense_Mutation_p.S697C|BCAR3_ENST00000539242.1_Missense_Mutation_p.S373C	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	697	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AACACATGTGGACTCTGAAGA	0.463																																																0													103	107	105					1																	94033045		2203	4300	6503	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2090C>G	chr1.hg19:g.94033045G>C	ENSP00000359264:p.Ser697Cys		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	hg19	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475298	0.63737	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.85	4.92	0.64577	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.709965	0.14950	N	0.288969	T	0.26521	0.0648	L	0.53249	1.67	0.09310	N	1	P;P	0.52692	0.955;0.955	P;P	0.52598	0.703;0.703	T	0.12400	-1.0549	10	0.38643	T	0.18	-19.933	7.5531	0.27808	0.1189:0.0:0.7329:0.1482	.	697;606	O75815;Q5TEW3	BCAR3_HUMAN;.	C	606;697;697;697;373	ENSP00000359267:S606C;ENSP00000260502:S697C;ENSP00000359264:S697C;ENSP00000359263:S697C;ENSP00000441343:S373C	ENSP00000260502:S697C	S	-	2	0	BCAR3	93805633	1.000000	0.71417	0.201000	0.23476	0.452000	0.32318	3.862000	0.56009	1.434000	0.47414	0.655000	0.94253	TCC		0.463	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			C	94033045	G	C	94033045	3	2	238	1	0	0	0	0	1	0	0	0	1349	1174	41	4	395	4	BCAR3	1	94033045	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	57111163	94033045	155217576	4	14461											
GON4L	54856	hgsc.bcm.edu	37	1	155734744	155734744	+	Intron	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:155734744A>G	ENST00000368331.1	-	21	4522				GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Intron|GON4L_ENST00000361040.5_Missense_Mutation_p.M1507T|GON4L_ENST00000271883.5_Intron	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TAAGTGATACATATTACTGAG	0.398																																																0													84	76	78					1																	155734744		2203	4300	6503	SO:0001627	intron_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4473+46T>C	chr1.hg19:g.155734744A>G			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.67	1.416623	0.25552	.	.	ENSG00000116580	ENST00000361040	T	0.11277	2.79	4.47	-0.731	0.11151	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.46693	-0.9173	9	0.87932	D	0	.	4.9844	0.14182	0.5165:0.3159:0.1676:0.0	.	1507	Q3T8J9-2	.	T	1507	ENSP00000354322:M1507T	ENSP00000354322:M1507T	M	-	2	0	GON4L	154001368	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.744000	0.04839	-0.308000	0.08792	0.378000	0.23410	ATG		0.398	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		G	155734744	A	G	155734744	1	3	238	0	1	0	0	0	0	0	0	0	6574	217	8	3		3	GON4L	1	155734744	Intron	SNP	A	TCGA-B1-A656-01A-11D-A31X-10	61701699	155734744	93515877	5	14462											
GORAB	92344	hgsc.bcm.edu	37	1	170508438	170508438	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:170508438A>C	ENST00000367763.3	+	2	244	c.224A>C	c.(223-225)aAa>aCa	p.K75T	GORAB_ENST00000367762.1_Missense_Mutation_p.K75T|GORAB_ENST00000465717.1_3'UTR	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						CAAAGCCAAAAACTTGGGCTT	0.443																																																0													107	102	104					1																	170508438		2203	4300	6503	SO:0001583	missense	92344			AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"gerodermia osteodysplastica"	607983	"SCY1-like 1 binding protein 1"	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.224A>C	chr1.hg19:g.170508438A>C	ENSP00000356737:p.Lys75Thr		Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	hg19	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.186138	0.57909	.	.	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.63580	-0.05;-0.05	5.49	4.37	0.52481	.	0.297450	0.41194	D	0.000932	T	0.62307	0.2417	M	0.70275	2.135	0.32365	N	0.556672	D	0.71674	0.998	D	0.66351	0.943	T	0.66268	-0.5966	10	0.56958	D	0.05	-12.6953	6.2817	0.21011	0.7838:0.0:0.0755:0.1408	.	75	Q5T7V8	GORAB_HUMAN	T	75	ENSP00000356737:K75T;ENSP00000356736:K75T	ENSP00000356736:K75T	K	+	2	0	GORAB	168775062	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	2.106000	0.41835	0.919000	0.36945	0.528000	0.53228	AAA		0.443	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		C	170508438	A	C	170508438	3	2	238	1	0	0	0	0	1	0	0	0	6576	14	1	5	230	5	GORAB	1	170508438	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10	14773694	170508438	78742183	6	14463											
PRDX6	9588	hgsc.bcm.edu	37	1	173454533	173454534	+	Frame_Shift_Ins	INS	-	-	AAAAAAA			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:173454533_173454534insAAAAAAA	ENST00000340385.5	+	3	418_419	c.286_287insAAAAAAA	c.(286-288)gaafs	p.-96fs	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6						hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)	p.E96*(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						AGAGCCCACAGAAAAGTTACCT	0.441																																																1	Substitution - Nonsense(1)	urinary_tract(1)																																								SO:0001589	frameshift_variant	9588			D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	Exception_encountered	chr1.hg19:g.173454533_173454534insAAAAAAA	ENSP00000342026:p.Glu96fs		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Frame_Shift_Ins	INS	ENST00000340385.5	hg19	CCDS1307.1																																																																																				0.441	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1	NM_004905		AAAAAAA	173454534	-	AAAAAAA	173454533	7	5	238	1	0	1	1	0	0	0	0	0	12474	943	33	0	296	0	PRDX6	1	173454533	Frame_Shift_Ins	INS	-	TCGA-B1-A656-01A-11D-A31X-10	2946095	173454533	75796088	7	14464											
LGTN	1939	hgsc.bcm.edu	37	1	206767112	206767112	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:206767112C>T	ENST00000271764.2	-	14	1748	c.1540G>A	c.(1540-1542)Ggt>Agt	p.G514S	EIF2D_ENST00000472709.2_Intron|EIF2D_ENST00000367114.3_Missense_Mutation_p.G390S	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	514	SUI1. {ECO:0000255|PROSITE- ProRule:PRU00200}.				formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGGTCCAGACCATAGGCCTCC	0.622																																																0													59	53	55					1																	206767112		2203	4300	6503	SO:0001583	missense	1939			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1540G>A	chr1.hg19:g.206767112C>T	ENSP00000271764:p.Gly514Ser		Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	hg19	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545011	0.96488	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.31510	1.49;1.49	5.68	5.68	0.88126	Translation initiation factor SUI1 (3);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.976	T	0.44050	-0.9353	10	0.21540	T	0.41	-19.8057	18.7742	0.91904	0.0:1.0:0.0:0.0	.	390;514	P41214-2;P41214	.;EIF2D_HUMAN	S	390;514	ENSP00000356081:G390S;ENSP00000271764:G514S	ENSP00000271764:G514S	G	-	1	0	EIF2D	204833735	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	7.586000	0.82596	2.676000	0.91093	0.563000	0.77884	GGT		0.622	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		T	206767112	C	T	206767112	3	4	238	1	0	0	0	0	1	0	0	0	8762	594	21	2	222	2	LGTN	1	206767112	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	33312579	206767112	42483509	8	14465											
TP53BP2	7159	hgsc.bcm.edu	37	1	223983631	223983631	+	Missense_Mutation	SNP	C	C	A	rs376978247		TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:223983631C>A	ENST00000343537.7	-	13	2901	c.2610G>T	c.(2608-2610)gaG>gaT	p.E870D	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.E741D|TP53BP2_ENST00000391879.2_Missense_Mutation_p.E103D	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	864	Pro-rich.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GAGGGTACTCCTCCAGGTACA	0.572																																																0													104	105	105					1																	223983631		2203	4300	6503	SO:0001583	missense	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2610G>T	chr1.hg19:g.223983631C>A	ENSP00000341957:p.Glu870Asp		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	hg19	CCDS44319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.85|16.85	3.235801|3.235801	0.58886|0.58886	.|.	.|.	ENSG00000143514|ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879|ENST00000494100	T;T;T|.	0.54279|.	0.68;0.85;0.58|.	5.55|5.55	3.32|3.32	0.38043|0.38043	Src homology-3 domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60702|.	0.2289|.	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.72625|.	0.978;0.978|.	T|.	0.54938|.	-0.8218|.	10|.	0.34782|.	T|.	0.22|.	.|.	9.5862|9.5862	0.39517|0.39517	0.0:0.7192:0.0:0.2808|0.0:0.7192:0.0:0.2808	.|.	870;864|.	B4DG66;Q13625|.	.;ASPP2_HUMAN|.	D|X	741;870;103|204	ENSP00000375750:E741D;ENSP00000341957:E870D;ENSP00000375751:E103D|.	ENSP00000341957:E870D|.	E|G	-|-	3|1	2|0	TP53BP2|TP53BP2	222050254|222050254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.740000|0.740000	0.42216|0.42216	1.205000|1.205000	0.32308|0.32308	0.441000|0.441000	0.26529|0.26529	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.572	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		A	223983631	C	A	223983631	3	1	238	1	0	0	0	0	1	0	0	0	16389	680	24	4	818	4	TP53BP2	1	223983631	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	17216519	223983631	25266990	9	14466											
PARP1	142	hgsc.bcm.edu	37	1	226555997	226555999	+	In_Frame_Del	DEL	GAG	GAG	-	rs369734863		TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr1:226555997_226555999delGAG	ENST00000366794.5	-	16	2321_2323	c.2178_2180delCTC	c.(2176-2181)gactct>gat	p.S727del	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	727	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CAGGATCTGAGAGTCGCTGCTGC	0.562								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								0																																										SO:0001651	inframe_deletion	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2178_2180delCTC	chr1.hg19:g.226555997_226555999delGAG	ENSP00000355759:p.Ser727del		B1ANJ4|Q8IUZ9	In_Frame_Del	DEL	ENST00000366794.5	hg19	CCDS1554.1																																																																																				0.562	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		-	226555999	GAG	-	226555997	7	5	238	1	0	1	0	1	0	0	0	0	11456	942	33	0	896	0	PARP1	1	226555997	In_Frame_Del	DEL	GAG	TCGA-B1-A656-01A-11D-A31X-10	2572366	226555997	22694624	10	14467											
MYCN	4613	hgsc.bcm.edu	37	2	16082258	16082258	+	Silent	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:16082258A>G	ENST00000281043.3	+	2	369	c.72A>G	c.(70-72)ctA>ctG	p.L24L	MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000439180.1_RNA|MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	24					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TTGACTCGCTACAGCCCTGCT	0.642			A		neuroblastoma																																		Dom	yes		2	2p24.1	4613	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"		O	0													54	56	56					2																	16082258		2203	4300	6503	SO:0001819	synonymous_variant	4613			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.72A>G	chr2.hg19:g.16082258A>G			Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	hg19	CCDS1687.1																																																																																				0.642	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		G	16082258	A	G	16082258	2	3	238	1	0	0	0	0	0	0	0	1	10023	378	14	3		3	MYCN	2	16082258	Silent	SNP	A	TCGA-B1-A656-01A-11D-A31X-10		16082258	227117115	11	14468											
DPY30	84661	hgsc.bcm.edu	37	2	32264491	32264491	+	Splice_Site	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:32264491T>A	ENST00000342166.5	-	2	150	c.35A>T	c.(34-36)cAg>cTg	p.Q12L	DPY30_ENST00000295066.3_Splice_Site_p.Q12L			Q9C005	DPY30_HUMAN	dpy-30 homolog (C. elegans)	12					endosomal transport (GO:0016197)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(2)	2	Acute lymphoblastic leukemia(172;0.155)					TCCTGATACCTGCGTTTGTCC	0.567																																																0													104	103	103					2																	32264491		2203	4300	6503	SO:0001630	splice_region_variant	84661				CCDS1777.1	2p22.3	2013-09-09			ENSG00000162961	ENSG00000162961			24590	protein-coding gene	gene with protein product		612032				12477932	Standard	XM_006712117		Approved	Saf19, HDPY-30, Cps25	uc002roa.1	Q9C005	OTTHUMG00000128457	ENST00000342166.5:c.36+1A>T	chr2.hg19:g.32264491T>A			D6W578	Missense_Mutation	SNP	ENST00000342166.5	hg19	CCDS1777.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.302365	0.40694	.	.	ENSG00000162961	ENST00000342166;ENST00000295066	.	.	.	5.92	3.54	0.40534	.	0.158879	0.56097	D	0.000023	T	0.44498	0.1296	.	.	.	0.41659	D	0.989174	B	0.14438	0.01	B	0.10450	0.005	T	0.45264	-0.9273	8	0.48119	T	0.1	-14.8864	9.1274	0.36824	0.0:0.0721:0.136:0.7919	.	12	Q9C005	DPY30_HUMAN	L	12	.	ENSP00000295066:Q12L	Q	-	2	0	DPY30	32117995	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.804000	0.47931	2.274000	0.75844	0.533000	0.62120	CAG		0.567	DPY30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250255.2	NM_032574	Missense_Mutation	A	32264491	T	A	32264491	5	1	238	1	0	0	0	0	0	0	1	0	4746	1594	55	5	280	5	DPY30	2	32264491	Splice_Site	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	16182233	32264491	210934882	12	14469											
EPAS1	2034	hgsc.bcm.edu	37	2	46607787	46607787	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:46607787C>G	ENST00000263734.3	+	12	2486	c.1976C>G	c.(1975-1977)aCa>aGa	p.T659R		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	659					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GATCAGCGCACAGAGTTCTTG	0.592																																																0													71	83	79					2																	46607787		2199	4290	6489	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1976C>G	chr2.hg19:g.46607787C>G	ENSP00000263734:p.Thr659Arg		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	hg19	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	9.602	1.128965	0.21041	.	.	ENSG00000116016	ENST00000263734	T	0.46451	0.87	4.89	3.08	0.35506	.	1.373260	0.04589	N	0.396496	T	0.30823	0.0777	N	0.22421	0.69	0.09310	N	1	B	0.23316	0.083	B	0.25405	0.06	T	0.26155	-1.0111	10	0.24483	T	0.36	.	6.4229	0.21754	0.1452:0.7017:0.0:0.1531	.	659	Q99814	EPAS1_HUMAN	R	659	ENSP00000263734:T659R	ENSP00000263734:T659R	T	+	2	0	EPAS1	46461291	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	1.108000	0.31123	0.480000	0.27534	-0.237000	0.12165	ACA		0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		G	46607787	C	G	46607787	3	3	238	1	0	0	0	0	1	0	0	0	5152	478	17	4	2022	4	EPAS1	2	46607787	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	14343296	46607787	196591586	13	14470											
REV1	51455	hgsc.bcm.edu	37	2	100019396	100019397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:100019396_100019397insA	ENST00000258428.3	-	20	3567_3568	c.3339_3340insT	c.(3337-3342)attgatfs	p.D1114fs	REV1_ENST00000393445.3_Frame_Shift_Ins_p.D1113fs|REV1_ENST00000465835.1_5'Flank|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1114					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGAAACCCATCAATTAACTTCT	0.421								Direct reversal of damage																																								0																																										SO:0001589	frameshift_variant	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3340dupT	chr2.hg19:g.100019398_100019398dupA	ENSP00000258428:p.Asp1114fs		O95941|Q53SI7|Q9C0J4|Q9NUP2	Frame_Shift_Ins	INS	ENST00000258428.3	hg19	CCDS2045.1																																																																																				0.421	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		A	100019397	-	A	100019396	7	5	238	1	0	1	1	0	0	0	0	0	13245	826	29	0	431	0	REV1	2	100019396	Frame_Shift_Ins	INS	-	TCGA-B1-A656-01A-11D-A31X-10	53411609	100019396	143179977	14	14471											
CNTNAP5	129684	hgsc.bcm.edu	37	2	125175092	125175092	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:125175092G>A	ENST00000431078.1	+	4	818	c.454G>A	c.(454-456)Gtt>Att	p.V152I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	152	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCCCGATTTGTTCGCTTTGT	0.498																																																0													96	100	99					2																	125175092		1990	4172	6162	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.454G>A	chr2.hg19:g.125175092G>A	ENSP00000399013:p.Val152Ile		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974606	0.53720	.	.	ENSG00000155052	ENST00000431078	D	0.97642	-4.47	6.17	-6.25	0.02039	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.767069	0.11093	N	0.600490	D	0.90116	0.6912	N	0.16656	0.425	0.29732	N	0.837787	B	0.02656	0.0	B	0.10450	0.005	T	0.79266	-0.1874	10	0.20046	T	0.44	.	9.7379	0.40399	0.4913:0.3858:0.1229:0.0	.	152	Q8WYK1	CNTP5_HUMAN	I	152	ENSP00000399013:V152I	ENSP00000399013:V152I	V	+	1	0	CNTNAP5	124891562	0.005000	0.15991	0.001000	0.08648	0.952000	0.60782	0.076000	0.14712	-1.035000	0.03291	0.655000	0.94253	GTT		0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			A	125175092	G	A	125175092	3	1	238	1	0	0	0	0	1	0	0	0	3652	1377	48	2	468	2	CNTNAP5	2	125175092	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	25155696	125175092	118024281	15	14472											
ALS2	57679	hgsc.bcm.edu	37	2	202572610	202572610	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:202572610delG	ENST00000264276.6	-	28	4757	c.4385delC	c.(4384-4386)tctfs	p.S1462fs	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1462					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGGTGATTCAGATCGGGAATC	0.488																																																0													75	72	73					2																	202572610		1869	4110	5979	SO:0001589	frameshift_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4385delC	chr2.hg19:g.202572610delG	ENSP00000264276:p.Ser1462fs		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Del	DEL	ENST00000264276.6	hg19	CCDS42800.1																																																																																				0.488	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		-	202572610	G	-	202572610	7	5	238	1	0	1	0	1	0	0	0	0	550	942	33	0	616	0	ALS2	2	202572610	Frame_Shift_Del	DEL	G	TCGA-B1-A656-01A-11D-A31X-10	77397518	202572610	40626763	16	14473	112	2									
ALS2	57679	hgsc.bcm.edu	37	2	202572613	202572623	+	Frame_Shift_Del	DEL	CGGGAATCTGA	CGGGAATCTGA	-	rs374047961		TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	CGGGAATCTGA	CGGGAATCTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:202572613_202572623delCGGGAATCTGA	ENST00000264276.6	-	28	4744_4754	c.4372_4382delTCAGATTCCCG	c.(4372-4383)tcagattcccgafs	p.SDSR1458fs	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1458					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.R1461Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGATTCAGATCGGGAATCTGACTTCCCAGTG	0.488																																																1	Substitution - Missense(1)	endometrium(1)																																								SO:0001589	frameshift_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4372_4382delTCAGATTCCCG	chr2.hg19:g.202572613_202572623delCGGGAATCTGA	ENSP00000264276:p.Ser1458fs		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Del	DEL	ENST00000264276.6	hg19	CCDS42800.1																																																																																				0.488	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		-	202572623	CGGGAATCTGA	-	202572613	7	5	238	1	0	1	0	1	0	0	0	0	550	884	31	0	619	0	ALS2	2	202572613	Frame_Shift_Del	DEL	CGGGAATCTGA	TCGA-B1-A656-01A-11D-A31X-10	3	202572613	40626760	17	14474	112	2									
NEU2	4759	hgsc.bcm.edu	37	2	233898967	233898967	+	Silent	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr2:233898967C>T	ENST00000233840.3	+	2	343	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	115					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GCAACAGCAGCTGCAGACCAG	0.627																																																0													89	72	78					2																	233898967		2203	4300	6503	SO:0001819	synonymous_variant	4759			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.343C>T	chr2.hg19:g.233898967C>T			Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	hg19	CCDS2501.1																																																																																				0.627	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		T	233898967	C	T	233898967	2	4	238	1	0	0	0	0	0	0	0	1	10344	796	28	2		2	NEU2	2	233898967	Silent	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	31326354	233898967	9300406	18	14475											
MTMR14	64419	hgsc.bcm.edu	37	3	9724894	9724896	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:9724894_9724896delCCT	ENST00000296003.4	+	10	1052_1054	c.930_932delCCT	c.(928-933)tacctg>tag	p.310_311YL>*	MTMR14_ENST00000351233.5_In_Frame_Del_p.310_311YL>*|MTMR14_ENST00000420925.1_In_Frame_Del_p.64_65YL>*|MTMR14_ENST00000353332.5_In_Frame_Del_p.310_311YL>*	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	310					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CACAAAACTACCTGAAGCTGCTG	0.429																																																0																																										SO:0001651	inframe_deletion	64419			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.930_932delCCT	chr3.hg19:g.9724894_9724896delCCT	ENSP00000296003:p.Tyr310_Leu311delins*		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	In_Frame_Del	DEL	ENST00000296003.4	hg19	CCDS43043.1																																																																																				0.429	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		-	9724896	CCT	-	9724894	7	5	238	1	0	1	0	1	0	0	0	0	9944	518	18	0	968	0	MTMR14	3	9724894	In_Frame_Del	DEL	CCT	TCGA-B1-A656-01A-11D-A31X-10		9724894	188297536	19	14476	113	2									
MTMR14	64419	hgsc.bcm.edu	37	3	9724897	9724898	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:9724897_9724898insA	ENST00000296003.4	+	10	1055_1056	c.933_934insA	c.(934-936)aagfs	p.K312fs	MTMR14_ENST00000351233.5_Frame_Shift_Ins_p.K312fs|MTMR14_ENST00000420925.1_Frame_Shift_Ins_p.K66fs|MTMR14_ENST00000353332.5_Frame_Shift_Ins_p.K312fs	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	312					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					AAAACTACCTGAAGCTGCTGCT	0.431																																																0																																										SO:0001589	frameshift_variant	64419			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.935dupA	chr3.hg19:g.9724899_9724899dupA	ENSP00000296003:p.Lys312fs		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Frame_Shift_Ins	INS	ENST00000296003.4	hg19	CCDS43043.1																																																																																				0.431	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		A	9724898	-	A	9724897	7	5	238	1	0	1	1	0	0	0	0	0	9944	1277	45	0	971	0	MTMR14	3	9724897	Frame_Shift_Ins	INS	-	TCGA-B1-A656-01A-11D-A31X-10	3	9724897	188297533	20	14477	113	2									
HDAC11	79885	hgsc.bcm.edu	37	3	13525052	13525052	+	Silent	SNP	T	T	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:13525052T>G	ENST00000295757.3	+	3	423	c.240T>G	c.(238-240)ctT>ctG	p.L80L	HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000405025.1_Silent_p.L52L|HDAC11_ENST00000404040.1_Silent_p.L80L|HDAC11_ENST00000433119.1_Silent_p.L52L|HDAC11_ENST00000402271.1_Silent_p.L80L|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000437379.2_Silent_p.L52L|HDAC11_ENST00000404548.1_Silent_p.L80L|HDAC11_ENST00000522202.1_Silent_p.L52L	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	80	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GGCGCTATCTTAATGAGCTCA	0.647																																																0													63	72	69					3																	13525052		2203	4300	6503	SO:0001819	synonymous_variant	79885			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.240T>G	chr3.hg19:g.13525052T>G			B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Silent	SNP	ENST00000295757.3	hg19	CCDS2615.1																																																																																				0.647	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		G	13525052	T	G	13525052	2	3	238	1	0	0	0	0	0	0	0	1	7008	1741	61	5		5	HDAC11	3	13525052	Silent	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	3800155	13525052	184497378	21	14478											
TRAK1	22906	hgsc.bcm.edu	37	3	42218379	42218379	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:42218379G>A	ENST00000327628.5	+	3	760	c.360G>A	c.(358-360)gaG>gaA	p.E120E	TRAK1_ENST00000449246.1_Silent_p.E46E|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.E62E|TRAK1_ENST00000396175.1_Silent_p.E62E	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	120	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCTTCTTGAGGAGGTAAGTG	0.388																																					GBM(44;195 884 22595 31865 41850)											0													157	164	162					3																	42218379		2203	4300	6503	SO:0001819	synonymous_variant	22906				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.360G>A	chr3.hg19:g.42218379G>A			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	hg19	CCDS43072.1																																																																																				0.388	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		A	42218379	G	A	42218379	2	1	238	1	0	0	0	0	0	0	0	1	16454	991	35	2		2	TRAK1	3	42218379	Silent	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	28693327	42218379	155804051	22	14479											
SNRK	54861	hgsc.bcm.edu	37	3	43388848	43388848	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:43388848A>T	ENST00000296088.7	+	7	1401	c.1097A>T	c.(1096-1098)aAa>aTa	p.K366I	RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.K366I|SNRK_ENST00000437827.1_Missense_Mutation_p.K160I|SNRK_ENST00000429705.2_Missense_Mutation_p.K366I|SNRK-AS1_ENST00000422681.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGGCCAACCAAAATTGATGTA	0.483																																																0													104	110	108					3																	43388848		1980	4155	6135	SO:0001583	missense	54861			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1097A>T	chr3.hg19:g.43388848A>T	ENSP00000296088:p.Lys366Ile			Missense_Mutation	SNP	ENST00000296088.7	hg19	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636679	0.47049	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.66460	-0.21;-0.21;-0.21;2.71	5.07	3.91	0.45181	.	0.175030	0.49305	N	0.000150	T	0.48960	0.1529	N	0.19112	0.55	0.49687	D	0.999812	B	0.23735	0.09	B	0.21360	0.034	T	0.49244	-0.8960	10	0.42905	T	0.14	.	10.4529	0.44533	0.9229:0.0:0.0771:0.0	.	366	Q9NRH2	SNRK_HUMAN	I	366;366;366;160	ENSP00000401246:K366I;ENSP00000411375:K366I;ENSP00000296088:K366I;ENSP00000409516:K160I	ENSP00000296088:K366I	K	+	2	0	SNRK	43363852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.731000	0.68554	2.049000	0.60858	0.533000	0.62120	AAA		0.483	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		T	43388848	A	T	43388848	3	4	238	1	0	0	0	0	1	0	0	0	14857	14	1	5	1115	5	SNRK	3	43388848	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10	1170469	43388848	154633582	23	14480											
SETD2	29072	hgsc.bcm.edu	37	3	47165390	47165391	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr3:47165390_47165391insA	ENST00000409792.3	-	3	777_778	c.735_736insT	c.(733-738)attgtafs	p.V246fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	246	Pro-rich.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GATTCTGGTACAATTATAATTG	0.381			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.736dupT	chr3.hg19:g.47165392_47165392dupA	ENSP00000386759:p.Val246fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	hg19	CCDS2749.2																																																																																				0.381	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47165391	-	A	47165390	7	5	238	1	0	1	1	0	0	0	0	0	14137	478	17	0	7034	0	SETD2	3	47165390	Frame_Shift_Ins	INS	-	TCGA-B1-A656-01A-11D-A31X-10	3776542	47165390	150857040	24	14481											
SH3TC1	54436	hgsc.bcm.edu	37	4	8230146	8230146	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr4:8230146T>C	ENST00000245105.3	+	12	2792	c.2725T>C	c.(2725-2727)Ttc>Ctc	p.F909L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.F833L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	909										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTGGCCAACTTCGGGGCCCT	0.706																																					NSCLC(145;2298 2623 35616 37297)											0													32	39	37					4																	8230146		2202	4298	6500	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2725T>C	chr4.hg19:g.8230146T>C	ENSP00000245105:p.Phe909Leu		Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	hg19	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	T	3.669	-0.067891	0.07228	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.56103	0.48;0.48	4.63	0.869	0.19096	Tetratricopeptide-like helical (1);	0.456640	0.23165	N	0.051183	T	0.31765	0.0807	L	0.29908	0.895	0.32645	N	0.520198	B	0.21225	0.053	B	0.25759	0.063	T	0.40327	-0.9569	10	0.02654	T	1	-12.4248	8.0727	0.30699	0.0:0.2424:0.0:0.7576	.	909	Q8TE82	S3TC1_HUMAN	L	647;909;833;738	ENSP00000245105:F909L;ENSP00000441045:F833L	ENSP00000245105:F909L	F	+	1	0	SH3TC1	8281046	1.000000	0.71417	0.984000	0.44739	0.251000	0.25915	1.897000	0.39799	0.167000	0.19631	0.459000	0.35465	TTC		0.706	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		C	8230146	T	C	8230146	3	2	238	1	0	0	0	0	1	0	0	0	14267	1609	56	3	2767	3	SH3TC1	4	8230146	Missense_Mutation	SNP	T	TCGA-B1-A656-01A-11D-A31X-10		8230146	182924130	25	14482											
NPFFR2	10886	hgsc.bcm.edu	37	4	73012854	73012854	+	Silent	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr4:73012854C>G	ENST00000308744.6	+	4	992	c.894C>G	c.(892-894)tcC>tcG	p.S298S	NPFFR2_ENST00000395999.1_Silent_p.S199S|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.S196S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	298					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GACTCAACTCCCAGAATAAAA	0.443																																																0													121	117	119					4																	73012854		2203	4300	6503	SO:0001819	synonymous_variant	10886			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.894C>G	chr4.hg19:g.73012854C>G			Q96RV1|Q9NR49	Silent	SNP	ENST00000308744.6	hg19	CCDS3551.1																																																																																				0.443	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		G	73012854	C	G	73012854	2	3	238	1	0	0	0	0	0	0	0	1	10580	610	22	4		4	NPFFR2	4	73012854	Silent	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	64782708	73012854	118141422	26	14483											
FAM13A	10144	hgsc.bcm.edu	37	4	89658657	89658657	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr4:89658657T>A	ENST00000264344.5	-	21	2819	c.2612A>T	c.(2611-2613)gAg>gTg	p.E871V	FAM13A_ENST00000513837.1_Missense_Mutation_p.E517V|FAM13A_ENST00000511976.1_Missense_Mutation_p.E457V|FAM13A_ENST00000508369.1_Missense_Mutation_p.E545V|FAM13A_ENST00000395002.2_Intron|FAM13A_ENST00000503556.1_Missense_Mutation_p.E531V	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	871					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGTTTCGCCCTCGATAATTGG	0.542																																																0													103	100	101					4																	89658657		2203	4300	6503	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2612A>T	chr4.hg19:g.89658657T>A	ENSP00000264344:p.Glu871Val		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	hg19	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640552	0.87859	.	.	ENSG00000138640	ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T	0.51817	1.33;0.69;0.77;0.7;0.71	4.84	4.84	0.62591	.	0.109676	0.64402	D	0.000010	T	0.66636	0.2809	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.71870	0.974;0.975;0.963;0.974;0.974	T	0.71377	-0.4611	10	0.87932	D	0	.	14.5853	0.68320	0.0:0.0:0.0:1.0	.	517;457;871;531;545	O94988-6;E9PGM7;O94988;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.	V	871;531;457;545;517	ENSP00000264344:E871V;ENSP00000427189:E531V;ENSP00000421914:E457V;ENSP00000421562:E545V;ENSP00000423252:E517V	ENSP00000264344:E871V	E	-	2	0	FAM13A	89877680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.507000	0.81676	2.023000	0.59567	0.477000	0.44152	GAG		0.542	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			A	89658657	T	A	89658657	3	1	238	1	0	0	0	0	1	0	0	0	5454	1551	54	5	475	5	FAM13A	4	89658657	Missense_Mutation	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	16645803	89658657	101495619	27	14484											
KIAA0922	23240	hgsc.bcm.edu	37	4	154542029	154542029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr4:154542029C>A	ENST00000409663.3	+	27	3738	c.3686C>A	c.(3685-3687)tCa>tAa	p.S1229*	KIAA0922_ENST00000409959.3_Nonsense_Mutation_p.S1230*|KIAA0922_ENST00000440693.1_Nonsense_Mutation_p.S1146*	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1229						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GCTCCAGTCTCAAGGTGCGTA	0.303																																																0													94	112	106					4																	154542029		2203	4300	6503	SO:0001587	stop_gained	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3686C>A	chr4.hg19:g.154542029C>A	ENSP00000386574:p.Ser1229*		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Nonsense_Mutation	SNP	ENST00000409663.3	hg19	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	40	7.923983	0.98563	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	.	.	.	5.5	3.61	0.41365	.	1.125250	0.06486	N	0.733676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	0.0653	9.2055	0.37287	0.0:0.8085:0.0:0.1915	.	.	.	.	X	1229;1146;1230;1007	.	ENSP00000240487:S1007X	S	+	2	0	KIAA0922	154761479	0.021000	0.18746	0.003000	0.11579	0.003000	0.03518	1.282000	0.33226	0.532000	0.28657	0.563000	0.77884	TCA		0.303	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		A	154542029	C	A	154542029	4	1	238	1	0	0	0	0	0	1	0	0	8203	838	29	4	3795	4	KIAA0922	4	154542029	Nonsense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	64883372	154542029	36612247	28	14485											
F2R	2149	hgsc.bcm.edu	37	5	76029290	76029290	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:76029290A>G	ENST00000319211.4	+	2	1505	c.1240A>G	c.(1240-1242)Aac>Gac	p.N414D		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	414					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CTGCTCTAGTAACCTGAATAA	0.388																																																0													69	74	72					5																	76029290		2200	4300	6500	SO:0001583	missense	2149			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.1240A>G	chr5.hg19:g.76029290A>G	ENSP00000321326:p.Asn414Asp		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	hg19	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610635	0.46527	.	.	ENSG00000181104	ENST00000319211	T	0.75938	-0.98	4.79	1.18	0.20946	.	0.606938	0.17367	N	0.176834	T	0.67477	0.2897	L	0.59436	1.845	0.29406	N	0.861551	P	0.35433	0.501	B	0.32864	0.154	T	0.59968	-0.7354	10	0.34782	T	0.22	-19.7943	13.2149	0.59854	0.7302:0.2698:0.0:0.0	.	414	P25116	PAR1_HUMAN	D	414	ENSP00000321326:N414D	ENSP00000321326:N414D	N	+	1	0	F2R	76065046	0.204000	0.23447	0.988000	0.46212	0.977000	0.68977	0.936000	0.28938	0.110000	0.17919	0.379000	0.24179	AAC		0.388	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			G	76029290	A	G	76029290	3	3	238	1	0	0	0	0	1	0	0	0	5345	362	13	3	1246	3	F2R	5	76029290	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10		76029290	104885970	29	14486											
AFF4	27125	hgsc.bcm.edu	37	5	132224787	132224791	+	Frame_Shift_Del	DEL	GCTTT	GCTTT	-	rs370588988		TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	GCTTT	GCTTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:132224787_132224791delGCTTT	ENST00000265343.5	-	14	3091_3095	c.2712_2716delAAAGC	c.(2710-2718)acaaagcttfs	p.KL905fs		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	905					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAAGACAAGCTTTGTTCTCCGAG	0.351																																					Ovarian(126;889 1733 2942 10745 11605)											0																																										SO:0001589	frameshift_variant	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2712_2716delAAAGC	chr5.hg19:g.132224787_132224791delGCTTT	ENSP00000265343:p.Lys905fs		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Frame_Shift_Del	DEL	ENST00000265343.5	hg19	CCDS4164.1																																																																																				0.351	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		-	132224791	GCTTT	-	132224787	7	5	238	1	0	1	0	1	0	0	0	0	359	971	34	0	807	0	AFF4	5	132224787	Frame_Shift_Del	DEL	GCTTT	TCGA-B1-A656-01A-11D-A31X-10	56195497	132224787	48690473	30	14487											
TMEM173	340061	hgsc.bcm.edu	37	5	138855862	138855862	+	Missense_Mutation	SNP	C	C	T	rs117897081	byFrequency	TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:138855862C>T	ENST00000330794.4	-	8	1457	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	TMEM173_ENST00000511850.1_5'Flank	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	375	C-terminal tail (CTT).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAAATCCGTGCGGAGAGGGAG	0.597																																																0													44	44	44					5																	138855862		2203	4300	6503	SO:0001583	missense	340061				CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.1124G>A	chr5.hg19:g.138855862C>T	ENSP00000331288:p.Arg375His		A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	ENST00000330794.4	hg19	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395533	0.42512	.	.	ENSG00000184584	ENST00000330794	T	0.30448	1.53	5.36	3.48	0.39840	.	0.070055	0.53938	N	0.000050	T	0.36744	0.0978	M	0.70595	2.14	0.35562	D	0.804743	D	0.60160	0.987	P	0.50537	0.643	T	0.49532	-0.8930	10	0.42905	T	0.14	-17.9707	5.749	0.18136	0.1568:0.6785:0.0:0.1647	.	375	Q86WV6	TM173_HUMAN	H	375	ENSP00000331288:R375H	ENSP00000331288:R375H	R	-	2	0	TMEM173	138836046	0.671000	0.27521	0.933000	0.37362	0.148000	0.21650	0.972000	0.29409	1.268000	0.44264	-0.369000	0.07265	CGC		0.597	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		T	138855862	C	T	138855862	3	4	238	1	0	0	0	0	1	0	0	0	16094	768	27	1	19	1	TMEM173	5	138855862	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	6631075	138855862	42059398	31	14488											
UNC5A	90249	hgsc.bcm.edu	37	5	176305475	176305475	+	Splice_Site	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr5:176305475G>A	ENST00000329542.4	+	13	2293		c.e13-1		UNC5A_ENST00000261961.3_Splice_Site	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCCCATCAGGAGATCCCCT	0.612																																																1	Unknown(1)	kidney(1)											89	83	85					5																	176305475		2203	4300	6503	SO:0001630	splice_region_variant	90249			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2020-1G>A	chr5.hg19:g.176305475G>A			B2RXE6|Q8TF26|Q96GP4	Splice_Site	SNP	ENST00000329542.4	hg19	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275028	0.80580	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.176	0.89761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC5A	176238081	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.860000	0.99555	2.641000	0.89580	0.491000	0.48974	.		0.612	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300	Intron	A	176305475	G	A	176305475	5	1	238	1	0	0	0	0	0	0	1	0	16996	1014	35	2	2069	2	UNC5A	5	176305475	Splice_Site	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	37449613	176305475	4609785	32	14489											
COL19A1	1310	hgsc.bcm.edu	37	6	70646796	70646796	+	Silent	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr6:70646796A>G	ENST00000322773.4	+	8	969	c.867A>G	c.(865-867)ccA>ccG	p.P289P		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	289					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGTGCATTCCAAACAAGGTAT	0.448																																																0													145	136	139					6																	70646796		2203	4300	6503	SO:0001819	synonymous_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.867A>G	chr6.hg19:g.70646796A>G			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	hg19	CCDS4970.1																																																																																				0.448	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			G	70646796	A	G	70646796	2	3	238	1	0	0	0	0	0	0	0	1	3678	117	5	3		3	COL19A1	6	70646796	Silent	SNP	A	TCGA-B1-A656-01A-11D-A31X-10		70646796	100468271	33	14490											
LIMK1	3984	hgsc.bcm.edu	37	7	73535230	73535230	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:73535230G>A	ENST00000336180.2	+	15	1683	c.1632G>A	c.(1630-1632)ggG>ggA	p.G544G	LIMK1_ENST00000418310.1_Silent_p.G574G|LIMK1_ENST00000538333.3_Silent_p.G510G	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	544	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	AGATCATCGGGCGGGTGAACG	0.647																																																0													86	82	84					7																	73535230		2203	4300	6503	SO:0001819	synonymous_variant	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1632G>A	chr7.hg19:g.73535230G>A			B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	ENST00000336180.2	hg19	CCDS5563.1																																																																																				0.647	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		A	73535230	G	A	73535230	2	1	238	1	0	0	0	0	0	0	0	1	8803	1190	42	2		2	LIMK1	7	73535230	Silent	SNP	G	TCGA-B1-A656-01A-11D-A31X-10		73535230	85603433	34	14491											
SRRT	51593	hgsc.bcm.edu	37	7	100485704	100485704	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:100485704C>A	ENST00000347433.4	+	18	2526	c.2368C>A	c.(2368-2370)Cag>Aag	p.Q790K	SRRT_ENST00000457580.2_Missense_Mutation_p.Q786K|SRRT_ENST00000388793.4_Missense_Mutation_p.Q789K|SRRT_ENST00000432932.1_Missense_Mutation_p.Q785K			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	790	Pro-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTACCCACACCAGACTCCCCA	0.612																																																0													52	56	55					7																	100485704		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2368C>A	chr7.hg19:g.100485704C>A	ENSP00000314491:p.Gln790Lys		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	hg19	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217920	0.58560	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764;ENST00000445337	.	.	.	4.91	4.91	0.64330	Arsenite-resistance protein 2 (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	N	0.08118	0	0.51767	D	0.999935	B;P;P;D	0.53885	0.206;0.954;0.954;0.963	B;D;D;D	0.71414	0.058;0.954;0.954;0.973	T	0.46789	-0.9166	9	0.15952	T	0.53	.	15.6172	0.76775	0.0:1.0:0.0:0.0	.	789;785;786;790	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	K	786;789;155;785;790;420;67	.	ENSP00000344670:Q155K	Q	+	1	0	SRRT	100323640	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.964000	0.63701	2.545000	0.85829	0.484000	0.47621	CAG		0.612	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		A	100485704	C	A	100485704	3	1	238	1	0	0	0	0	1	0	0	0	15177	595	21	4	2434	4	SRRT	7	100485704	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	26950474	100485704	58652959	35	14492											
CDHR3	222256	hgsc.bcm.edu	37	7	105673047	105673047	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:105673047delG	ENST00000317716.9	+	19	2642	c.2562delG	c.(2560-2562)ctgfs	p.L854fs	CDHR3_ENST00000478080.1_Frame_Shift_Del_p.L766fs|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000542731.1_Frame_Shift_Del_p.L854fs	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	854					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ATGCTGGTCTGGGTTCCAGAA	0.552																																																0													68	76	73					7																	105673047		2097	4220	6317	SO:0001589	frameshift_variant	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2562delG	chr7.hg19:g.105673047delG	ENSP00000325954:p.Leu854fs		Q8TCI7	Frame_Shift_Del	DEL	ENST00000317716.9	hg19	CCDS47684.1																																																																																				0.552	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		-	105673047	G	-	105673047	7	5	238	1	0	1	0	1	0	0	0	0	3122	1335	47	0	2636	0	CDHR3	7	105673047	Frame_Shift_Del	DEL	G	TCGA-B1-A656-01A-11D-A31X-10	5187343	105673047	53465616	36	14493											
DLD	1738	hgsc.bcm.edu	37	7	107556127	107556127	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:107556127delA	ENST00000205402.5	+	9	1142	c.861delA	c.(859-861)ggafs	p.G287fs	DLD_ENST00000537148.1_Frame_Shift_Del_p.G188fs|DLD_ENST00000440410.1_Frame_Shift_Del_p.G264fs|DLD_ENST00000437604.2_Frame_Shift_Del_p.G239fs	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	287					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	AGTCAGATGGAAAAATTGATG	0.308																																																0													52	54	54					7																	107556127		2203	4300	6503	SO:0001589	frameshift_variant	1738			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.861delA	chr7.hg19:g.107556127delA	ENSP00000205402:p.Gly287fs		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Frame_Shift_Del	DEL	ENST00000205402.5	hg19	CCDS5749.1																																																																																				0.308	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		-	107556127	A	-	107556127	7	5	238	1	0	1	0	1	0	0	0	0	4553	233	9	0	895	0	DLD	7	107556127	Frame_Shift_Del	DEL	A	TCGA-B1-A656-01A-11D-A31X-10	1883080	107556127	51582536	37	14494	114	2									
DLD	1738	hgsc.bcm.edu	37	7	107556131	107556131	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr7:107556131delA	ENST00000205402.5	+	9	1146	c.865delA	c.(865-867)attfs	p.I289fs	DLD_ENST00000537148.1_Frame_Shift_Del_p.I190fs|DLD_ENST00000440410.1_Frame_Shift_Del_p.I266fs|DLD_ENST00000437604.2_Frame_Shift_Del_p.I241fs	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	289					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	AGATGGAAAAATTGATGTTTC	0.323																																																0													52	54	53					7																	107556131		2203	4300	6503	SO:0001589	frameshift_variant	1738			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.865delA	chr7.hg19:g.107556131delA	ENSP00000205402:p.Ile289fs		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Frame_Shift_Del	DEL	ENST00000205402.5	hg19	CCDS5749.1																																																																																				0.323	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		-	107556131	A	-	107556131	7	5	238	1	0	1	0	1	0	0	0	0	4553	101	4	0	899	0	DLD	7	107556131	Frame_Shift_Del	DEL	A	TCGA-B1-A656-01A-11D-A31X-10	4	107556131	51582532	38	14495	114	2									
ANK1	286	hgsc.bcm.edu	37	8	41551436	41551436	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr8:41551436C>T	ENST00000347528.4	-	29	3595	c.3512G>A	c.(3511-3513)cGc>cAc	p.R1171H	ANK1_ENST00000396945.1_Missense_Mutation_p.R1171H|ANK1_ENST00000265709.8_Missense_Mutation_p.R1212H|ANK1_ENST00000379758.2_Missense_Mutation_p.R1171H|ANK1_ENST00000396942.1_Missense_Mutation_p.R1171H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1171H|ANK1_ENST00000352337.4_Missense_Mutation_p.R1171H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1171	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R1171H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAAAGCAGGCGCAGGCTGGT	0.647																																																1	Substitution - Missense(1)	large_intestine(1)											31	28	29					8																	41551436		2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3512G>A	chr8.hg19:g.41551436C>T	ENSP00000339620:p.Arg1171His		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	hg19	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421819	0.96111	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.73469	-0.72;-0.72;-0.69;-0.68;-0.69;-0.67;-0.75	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.87018	0.6073	M	0.80183	2.485	0.80722	D	1	D;D;D;P;D;D	0.89917	0.988;0.996;0.994;0.914;0.988;1.0	D;P;P;P;D;D	0.73708	0.91;0.821;0.677;0.498;0.91;0.981	D	0.88810	0.3291	10	0.87932	D	0	.	18.7318	0.91738	0.0:1.0:0.0:0.0	.	1212;1171;1171;1171;1171;487	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	H	1171;1171;1171;1171;1171;1171;1212;1171	ENSP00000339620:R1171H;ENSP00000289734:R1171H;ENSP00000369082:R1171H;ENSP00000380149:R1171H;ENSP00000380147:R1171H;ENSP00000309131:R1171H;ENSP00000265709:R1212H	ENSP00000265709:R1212H	R	-	2	0	ANK1	41670593	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.794000	0.85869	2.493000	0.84123	0.313000	0.20887	CGC		0.647	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41551436	C	T	41551436	3	4	238	1	0	0	0	0	1	0	0	0	620	768	27	1	2515	1	ANK1	8	41551436	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10		41551436	104812586	39	14496											
SLC20A2	6575	hgsc.bcm.edu	37	8	42302170	42302170	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr8:42302170delT	ENST00000342228.3	-	6	1093	c.724delA	c.(724-726)atafs	p.I242fs	SLC20A2_ENST00000520262.1_Frame_Shift_Del_p.I242fs|SLC20A2_ENST00000520179.1_Frame_Shift_Del_p.I242fs	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	242					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATACCTGTTATTTTCCTCCGC	0.463																																																0													137	120	126					8																	42302170		2203	4300	6503	SO:0001589	frameshift_variant	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.724delA	chr8.hg19:g.42302170delT	ENSP00000340465:p.Ile242fs			Frame_Shift_Del	DEL	ENST00000342228.3	hg19	CCDS6132.1																																																																																				0.463	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			-	42302170	T	-	42302170	7	5	238	1	0	1	0	1	0	0	0	0	14445	1493	52	0	1258	0	SLC20A2	8	42302170	Frame_Shift_Del	DEL	T	TCGA-B1-A656-01A-11D-A31X-10	750734	42302170	104061852	40	14497											
RFX3	5991	hgsc.bcm.edu	37	9	3271084	3271084	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr9:3271084C>G	ENST00000382004.3	-	11	1432	c.1121G>C	c.(1120-1122)aGc>aCc	p.S374T	RFX3_ENST00000358730.2_Missense_Mutation_p.S374T|RFX3_ENST00000302303.1_Missense_Mutation_p.S374T	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	374					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTCTATCAGGCTAAATTGAAG	0.388																																																0													166	152	156					9																	3271084		2203	4300	6503	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1121G>C	chr9.hg19:g.3271084C>G	ENSP00000371434:p.Ser374Thr		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	hg19	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	c	5.417	0.262094	0.10239	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.08102	3.13;3.13;3.13	5.76	4.85	0.62838	.	0.039316	0.85682	D	0.000000	T	0.03695	0.0105	N	0.04508	-0.205	0.48632	D	0.999686	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.12156	0.007;0.007;0.004	T	0.43877	-0.9364	10	0.09338	T	0.73	-10.837	11.3803	0.49752	0.0:0.8614:0.0:0.1386	.	374;374;374	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	T	374	ENSP00000371434:S374T;ENSP00000351574:S374T;ENSP00000303847:S374T	ENSP00000303847:S374T	S	-	2	0	RFX3	3261084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.760000	0.55235	2.738000	0.93877	0.645000	0.84053	AGC		0.388	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		G	3271084	C	G	3271084	3	3	238	1	0	0	0	0	1	0	0	0	13270	797	28	4	1316	4	RFX3	9	3271084	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10		3271084	137942347	41	14498											
SLC24A2	25769	hgsc.bcm.edu	37	9	19516367	19516367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr9:19516367delA	ENST00000341998.2	-	10	1831	c.1770delT	c.(1768-1770)attfs	p.I590fs	SLC24A2_ENST00000286344.3_Frame_Shift_Del_p.I573fs	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	590					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGAATCTGTGAATGACGGTGT	0.547																																																0													47	44	45					9																	19516367		2203	4300	6503	SO:0001589	frameshift_variant	25769			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1770delT	chr9.hg19:g.19516367delA	ENSP00000344801:p.Ile590fs		B7ZLL8|Q9NTN5|Q9NZQ4	Frame_Shift_Del	DEL	ENST00000341998.2	hg19	CCDS6493.1																																																																																				0.547	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		-	19516367	A	-	19516367	7	5	238	1	0	1	0	1	0	0	0	0	14472	242	9	0	219	0	SLC24A2	9	19516367	Frame_Shift_Del	DEL	A	TCGA-B1-A656-01A-11D-A31X-10	16245283	19516367	121697064	42	14499											
STXBP1	6812	hgsc.bcm.edu	37	9	130438137	130438137	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr9:130438137G>A	ENST00000373299.1	+	14	1280	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	STXBP1_ENST00000373302.3_Missense_Mutation_p.A389T|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	389					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CCCTATGCGAGCCATCGTCCC	0.507																																																0													157	112	127					9																	130438137		2203	4300	6503	SO:0001583	missense	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1165G>A	chr9.hg19:g.130438137G>A	ENSP00000362396:p.Ala389Thr		B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	hg19	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406455	0.42715	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.80033	-1.33;-1.33	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	N	0.04203	-0.255	0.58432	D	0.999998	B;B	0.14012	0.009;0.008	B;B	0.18263	0.021;0.012	T	0.59369	-0.7467	10	0.13108	T	0.6	-12.1555	17.491	0.87703	0.0:0.0:1.0:0.0	.	389;389	P61764;P61764-2	STXB1_HUMAN;.	T	343;389;221;389	ENSP00000362399:A389T;ENSP00000362396:A389T	ENSP00000362396:A389T	A	+	1	0	STXBP1	129477958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.669000	0.68081	2.793000	0.96121	0.655000	0.94253	GCC		0.507	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		A	130438137	G	A	130438137	3	1	238	1	0	0	0	0	1	0	0	0	15357	971	34	2	1219	2	STXBP1	9	130438137	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	110921770	130438137	10775294	43	14500											
ASB6	140459	hgsc.bcm.edu	37	9	132400146	132400146	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr9:132400146T>A	ENST00000277458.4	-	6	1354	c.1189A>T	c.(1189-1191)Aaa>Taa	p.K397*	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000277459.4_3'UTR|ASB6_ENST00000450050.2_Nonsense_Mutation_p.K318*	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	397	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GGCAGGGCTTTGACCTTCACA	0.607																																																0													66	63	64					9																	132400146		2203	4300	6503	SO:0001587	stop_gained	140459				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.1189A>T	chr9.hg19:g.132400146T>A	ENSP00000277458:p.Lys397*		Q5SZB7|Q9BV15	Nonsense_Mutation	SNP	ENST00000277458.4	hg19	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	T	37	6.123362	0.97305	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	.	.	.	4.95	0.937	0.19494	.	0.300887	0.39759	N	0.001264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0669	11.7516	0.51852	0.0:0.0:0.4323:0.5677	.	.	.	.	X	397;318	.	ENSP00000277458:K397X	K	-	1	0	ASB6	131439967	0.998000	0.40836	0.854000	0.33618	0.993000	0.82548	1.584000	0.36589	-0.003000	0.14444	0.379000	0.24179	AAA		0.607	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		A	132400146	T	A	132400146	4	1	238	1	0	0	0	0	0	1	0	0	1027	1821	63	5	80	5	ASB6	9	132400146	Nonsense_Mutation	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	1962009	132400146	8813285	44	14501											
ALOX5	240	hgsc.bcm.edu	37	10	45936826	45936826	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr10:45936826T>A	ENST00000374391.2	+	9	1273	c.1220T>A	c.(1219-1221)aTc>aAc	p.I407N	ALOX5_ENST00000542434.1_Missense_Mutation_p.I407N	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	407	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	ACCATTGCAATCAACACCAAG	0.627																																																0													180	169	173					10																	45936826		2203	4300	6503	SO:0001583	missense	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1220T>A	chr10.hg19:g.45936826T>A	ENSP00000363512:p.Ile407Asn		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	hg19	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.185478	0.78677	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.94000	-3.33;-3.33	5.45	5.45	0.79879	Lipoxygenase, C-terminal (3);	0.047406	0.85682	D	0.000000	D	0.97399	0.9149	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.989;0.995	D	0.98292	1.0514	10	0.87932	D	0	-34.9933	13.4602	0.61223	0.0:0.0:0.0:1.0	.	407;407;407	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	N	407	ENSP00000437634:I407N;ENSP00000363512:I407N	ENSP00000363512:I407N	I	+	2	0	ALOX5	45256832	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	7.996000	0.88334	2.054000	0.61138	0.533000	0.62120	ATC		0.627	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			A	45936826	T	A	45936826	3	1	238	1	0	0	0	0	1	0	0	0	540	1435	50	5	1254	5	ALOX5	10	45936826	Missense_Mutation	SNP	T	TCGA-B1-A656-01A-11D-A31X-10		45936826	89597921	45	14502											
NCOA4	8031	hgsc.bcm.edu	37	10	51585173	51585173	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr10:51585173G>A	ENST00000443446.1	+	8	1501	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	NCOA4_ENST00000374087.4_Silent_p.K424K|NCOA4_ENST00000438493.1_Silent_p.K440K|NCOA4_ENST00000430396.2_Silent_p.K324K|NCOA4_ENST00000452682.1_Silent_p.K440K|NCOA4_ENST00000414907.2_Silent_p.K258K|NCOA4_ENST00000344348.6_Silent_p.K424K|NCOA4_ENST00000374082.1_Silent_p.K424K	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	424					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ATTGTGAGAAGGAGGCTCTGT	0.478			T	RET	papillary thyroid																																		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	0													70	75	73					10																	51585173		2203	4300	6503	SO:0001819	synonymous_variant	8031			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1272G>A	chr10.hg19:g.51585173G>A			A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	hg19	CCDS7237.1																																																																																				0.478	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		A	51585173	G	A	51585173	2	1	238	1	0	0	0	0	0	0	0	1	10233	991	35	2		2	NCOA4	10	51585173	Silent	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	5648347	51585173	83949574	46	14503											
NUDT13	25961	hgsc.bcm.edu	37	10	74879906	74879906	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr10:74879906A>C	ENST00000357321.4	+	3	332	c.214A>C	c.(214-216)Agc>Cgc	p.S72R	NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.S72R|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000349051.5_Missense_Mutation_p.S72R	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					CCCCCGGCACAGCCTGTTAGG	0.498																																																0													55	56	56					10																	74879906		2203	4300	6503	SO:0001583	missense	25961			AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"Nudix motif containing"	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.214A>C	chr10.hg19:g.74879906A>C	ENSP00000349874:p.Ser72Arg			Missense_Mutation	SNP	ENST00000357321.4	hg19	CCDS31220.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887191	0.33348	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000372997	T;T;T	0.32515	1.45;1.45;1.45	5.63	5.63	0.86233	NADH pyrophosphatase-like, N-terminal (1);	0.319618	0.40302	N	0.001140	T	0.25419	0.0618	L	0.38531	1.155	0.80722	D	1	B;B;B	0.33755	0.424;0.045;0.079	B;B;B	0.29942	0.109;0.102;0.092	T	0.03453	-1.1035	10	0.35671	T	0.21	.	15.0175	0.71597	1.0:0.0:0.0:0.0	.	72;72;72	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	R	72	ENSP00000349874:S72R;ENSP00000335326:S72R;ENSP00000362088:S72R	ENSP00000335326:S72R	S	+	1	0	NUDT13	74549912	0.996000	0.38824	0.776000	0.31678	0.176000	0.22953	3.633000	0.54295	2.148000	0.66965	0.533000	0.62120	AGC		0.498	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901		C	74879906	A	C	74879906	3	2	238	1	0	0	0	0	1	0	0	0	10731	188	7	5	220	5	NUDT13	10	74879906	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10	23294733	74879906	60654841	47	14504											
ZMIZ1	57178	hgsc.bcm.edu	37	10	80968102	80968102	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr10:80968102A>T	ENST00000334512.5	+	6	642	c.70A>T	c.(70-72)Aat>Tat	p.N24Y		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	24					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCACTTACAGAATCCTGCCAA	0.622																																																0													68	56	60					10																	80968102		2203	4300	6503	SO:0001583	missense	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.70A>T	chr10.hg19:g.80968102A>T	ENSP00000334474:p.Asn24Tyr		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	hg19	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022073	0.75275	.	.	ENSG00000108175	ENST00000334512;ENST00000394592	T	0.34667	1.35	5.23	4.1	0.47936	.	.	.	.	.	T	0.52645	0.1747	L	0.60455	1.87	0.80722	D	1	D;D	0.65815	0.995;0.993	D;P	0.72982	0.979;0.885	T	0.52793	-0.8528	9	0.87932	D	0	-6.037	9.9202	0.41459	0.9182:0.0:0.0818:0.0	.	24;24	Q9ULJ6;A0JLS3	ZMIZ1_HUMAN;.	Y	24	ENSP00000334474:N24Y	ENSP00000334474:N24Y	N	+	1	0	ZMIZ1	80638108	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.717000	0.91425	0.846000	0.35142	0.379000	0.24179	AAT		0.622	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		T	80968102	A	T	80968102	3	4	238	1	0	0	0	0	1	0	0	0	17701	246	9	5	76	5	ZMIZ1	10	80968102	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10	6088196	80968102	54566645	48	14505											
SORCS1	114815	hgsc.bcm.edu	37	10	108371744	108371744	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr10:108371744G>T	ENST00000263054.6	-	22	2965	c.2958C>A	c.(2956-2958)aaC>aaA	p.N986K	SORCS1_ENST00000369698.1_Missense_Mutation_p.N521K|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.N986K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	986					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGTCATCCAGGTTTGGAGAAA	0.463																																																0													113	103	106					10																	108371744		2203	4300	6503	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2958C>A	chr10.hg19:g.108371744G>T	ENSP00000263054:p.Asn986Lys		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	hg19	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.41|19.41	3.822407|3.822407	0.71028|0.71028	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440|ENST00000452214	T;T;T|.	0.24908|.	1.83;2.4;2.4|.	5.4|5.4	4.49|4.49	0.54785|0.54785	.|.	0.048600|.	0.85682|.	D|.	0.000000|.	T|T	0.73869|0.73869	0.3642|0.3642	M|M	0.80183|0.80183	2.485|2.485	0.44359|0.44359	D|D	0.997259|0.997259	D;D;D;D;D|.	0.58620|.	0.972;0.983;0.983;0.972;0.983|.	P;P;P;P;P|.	0.62298|.	0.797;0.9;0.9;0.797;0.9|.	T|T	0.75391|0.75391	-0.3334|-0.3334	9|5	.|.	.|.	.|.	-33.8428|-33.8428	11.7072|11.7072	0.51603|0.51603	0.1432:0.0:0.8568:0.0|0.1432:0.0:0.8568:0.0	.|.	986;986;986;986;986|.	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2|.	.;.;.;SORC1_HUMAN;.|.	K|N	521;986;986|1	ENSP00000358712:N521K;ENSP00000263054:N986K;ENSP00000345964:N986K|.	.|.	N|T	-|-	3|2	2|0	SORCS1|SORCS1	108361734|108361734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.681000|1.681000	0.37618|0.37618	1.406000|1.406000	0.46857|0.46857	0.650000|0.650000	0.86243|0.86243	AAC|ACC		0.463	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		T	108371744	G	T	108371744	3	4	238	1	0	0	0	0	1	0	0	0	14936	1252	44	4	802	4	SORCS1	10	108371744	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	27403642	108371744	27163003	49	14506											
OR5P2	120065	hgsc.bcm.edu	37	11	7818418	7818420	+	Missense_Mutation	TNP	TGG	TGG	AAT			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T|G|G	T|G|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:7818418_7818420TGG>AAT	ENST00000329434.2	-	1	100_102	c.70_72CCA>ATT	c.(70-72)CCA>ATT	p.P24I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCGAAGGATTGGATCATCTGTT	0.429																																																0																																										SO:0001583	missense	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.70_72CCA>ATT	chr11.hg19:g.7818418TGG>AAT	ENSP00000331823:p.Pro24Ile		Q3MIS8	Silent|Missense_Mutation|Missense_Mutation	SNP	ENST00000329434.2	hg19	CCDS7782.1																																																																																				0.429	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		AAT	7818420	TGG	AAT	7818418	3	1	238	1	0	0	0	0	1	0	0	0	11180	1799	63	5	900	5	OR5P2	11	7818418	Missense_Mutation	TNP	TGG	TCGA-B1-A656-01A-11D-A31X-10		7818418	127188098	50	14507											
LGR4	55366	hgsc.bcm.edu	37	11	27402259	27402259	+	Splice_Site	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:27402259C>G	ENST00000379214.4	-	9	1274		c.e9-1		LGR4_ENST00000389858.4_Splice_Site	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4						bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATACAAATGTCTGTGAAAATA	0.299																																																0													49	52	51					11																	27402259		2201	4289	6490	SO:0001630	splice_region_variant	55366			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.831-1G>C	chr11.hg19:g.27402259C>G			A6NCH3|G5E9B3|Q8N537|Q9NYD1	Splice_Site	SNP	ENST00000379214.4	hg19	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067334	0.76301	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7788	0.96409	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LGR4	27358835	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.487000	0.81328	2.749000	0.94314	0.460000	0.39030	.		0.299	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	Intron	G	27402259	C	G	27402259	5	3	238	1	0	0	0	0	0	0	1	0	8758	927	32	4	2065	4	LGR4	11	27402259	Splice_Site	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	19583841	27402259	107604257	51	14508											
PLCB3	5331	hgsc.bcm.edu	37	11	64034708	64034708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:64034708C>T	ENST00000540288.1	+	30	3569	c.3466C>T	c.(3466-3468)Cag>Tag	p.Q1156*	PLCB3_ENST00000279230.6_Nonsense_Mutation_p.Q1156*|PLCB3_ENST00000325234.5_Nonsense_Mutation_p.Q1089*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1156					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGGCAGCAGCAGGTCCTGCA	0.672																																																0													19	18	18					11																	64034708		1955	3784	5739	SO:0001587	stop_gained	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3466C>T	chr11.hg19:g.64034708C>T	ENSP00000443631:p.Gln1156*		A5PKZ6|G5E960|Q8N1A4	Nonsense_Mutation	SNP	ENST00000540288.1	hg19	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	39	7.682014	0.98431	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	.	.	.	4.42	4.42	0.53409	.	0.339854	0.29830	N	0.011090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	11.0366	0.47804	0.0:0.6842:0.3158:0.0	.	.	.	.	X	1156;1156;1089	.	ENSP00000279230:Q1156X	Q	+	1	0	PLCB3	63791284	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.151000	0.58105	2.297000	0.77311	0.561000	0.74099	CAG		0.672	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			T	64034708	C	T	64034708	4	4	238	1	0	0	0	0	0	1	0	0	12031	711	25	2	3584	2	PLCB3	11	64034708	Nonsense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	36632449	64034708	70971808	52	14509											
NAALADL1	10004	hgsc.bcm.edu	37	11	64813975	64813975	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:64813975G>A	ENST00000358658.3	-	14	1650	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y	NAALADL1_ENST00000340252.4_Silent_p.Y592Y|NAALADL1_ENST00000355369.2_Intron|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000528884.1_Intron|NAALADL1_ENST00000355721.3_Silent_p.Y500Y|NAALADL1_ENST00000339885.2_Missense_Mutation_p.T511I|NAALADL1_ENST00000356632.3_Silent_p.Y506Y	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	541	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGTAGGTGGGGTAGATCCTGG	0.552																																																0													130	109	116					11																	64813975		2201	4297	6498	SO:0001819	synonymous_variant	10004			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1623C>T	chr11.hg19:g.64813975G>A			C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	hg19	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583064	0.65992	.	.	ENSG00000168060	ENST00000339885	T	0.48522	0.81	5.53	4.63	0.57726	.	.	.	.	.	T	0.49609	0.1567	.	.	.	0.26194	N	0.979542	.	.	.	.	.	.	T	0.48317	-0.9046	6	0.87932	D	0	-29.7051	8.5374	0.33371	0.1733:0.0:0.8267:0.0	.	.	.	.	I	511	ENSP00000340111:T511I	ENSP00000340111:T511I	T	-	2	0	NAALADL1	64570551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.241000	0.51376	1.370000	0.46153	0.561000	0.74099	ACC		0.552	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		A	64813975	G	A	64813975	2	1	238	1	0	0	0	0	0	0	0	1	10131	1256	44	2		2	NAALADL1	11	64813975	Silent	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	779267	64813975	70192541	53	14510											
CLPB	81570	hgsc.bcm.edu	37	11	72145214	72145214	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:72145214T>A	ENST00000294053.3	-	1	478	c.305A>T	c.(304-306)gAc>gTc	p.D102V	CLPB_ENST00000538039.1_Missense_Mutation_p.D102V|CLPB_ENST00000437826.2_Silent_p.G21G|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000542555.1_5'Flank|CLPB_ENST00000340729.5_Missense_Mutation_p.D102V|CLPB_ENST00000445069.2_Intron	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	102					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTTCCAGCTGTCCTGTCCTGG	0.662											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													45	49	47					11																	72145214		2200	4292	6492	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.305A>T	chr11.hg19:g.72145214T>A	ENSP00000294053:p.Asp102Val	1135	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	hg19	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964448	0.53507	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000340729	T;T;T	0.69175	1.9;1.08;-0.38	5.04	2.43	0.29744	.	0.289184	0.26286	N	0.025253	T	0.45856	0.1363	N	0.14661	0.345	0.80722	D	1	P;B;P	0.37955	0.514;0.437;0.612	B;B;B	0.38880	0.284;0.189;0.203	T	0.43637	-0.9379	10	0.72032	D	0.01	-12.7372	5.6906	0.17827	0.1674:0.0:0.1731:0.6594	.	102;102;102	F8W7P6;Q9H078-2;Q9H078	.;.;CLPB_HUMAN	V	102	ENSP00000294053:D102V;ENSP00000441518:D102V;ENSP00000340385:D102V	ENSP00000294053:D102V	D	-	2	0	CLPB	71822862	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	1.637000	0.37155	0.808000	0.34231	0.533000	0.62120	GAC		0.662	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		A	72145214	T	A	72145214	3	1	238	1	0	0	0	0	1	0	0	0	3553	1667	58	5	1886	5	CLPB	11	72145214	Missense_Mutation	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	7331239	72145214	62861302	54	14511											
KCNE3	10008	hgsc.bcm.edu	37	11	74168349	74168350	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:74168349_74168350TT>AA	ENST00000310128.4	-	3	678_679	c.259_260AA>TT	c.(259-261)AAg>TTg	p.K87L	KCNE3_ENST00000525550.1_Missense_Mutation_p.K87L|RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	87					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					GTCACTACGCTTGTCCACTTTG	0.495																																																0																																										SO:0001583	missense	10008			AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"Potassium channels"	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.259_260delinsAA	chr11.hg19:g.74168349_74168350delinsAA	ENSP00000310557:p.Lys87Leu			Missense_Mutation|Nonsense_Mutation	SNP	ENST00000310128.4	hg19	CCDS8232.1																																																																																				0.495	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472		AA	74168350	TT	AA	74168349	3	1	238	1	0	0	0	0	1	0	0	0	8026	1609	56	5	55	5	KCNE3	11	74168349	Missense_Mutation	DNP	TT	TCGA-B1-A656-01A-11D-A31X-10	2023135	74168349	60838167	55	14512											
FZD4	8322	hgsc.bcm.edu	37	11	86663362	86663362	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr11:86663362T>C	ENST00000531380.1	-	2	741	c.436A>G	c.(436-438)Agc>Ggc	p.S146G	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	146	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGGAATTTGCTGCAGTTCAGA	0.557																																																0													91	94	93					11																	86663362		2201	4299	6500	SO:0001583	missense	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.436A>G	chr11.hg19:g.86663362T>C	ENSP00000434034:p.Ser146Gly		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	hg19	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.915066	0.52546	.	.	ENSG00000174804	ENST00000531380	T	0.80393	-1.37	5.82	5.82	0.92795	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.82426	0.5034	M	0.77712	2.385	0.58432	D	0.999999	B	0.25441	0.126	B	0.32289	0.143	T	0.79037	-0.1967	9	.	.	.	.	16.1832	0.81925	0.0:0.0:0.0:1.0	.	146	Q9ULV1	FZD4_HUMAN	G	146	ENSP00000434034:S146G	.	S	-	1	0	FZD4	86341010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.221000	0.58574	2.228000	0.72767	0.533000	0.62120	AGC		0.557	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		C	86663362	T	C	86663362	3	2	238	1	0	0	0	0	1	0	0	0	6134	1580	55	3	1181	3	FZD4	11	86663362	Missense_Mutation	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	12495013	86663362	48343154	56	14513											
PLCZ1	89869	hgsc.bcm.edu	37	12	18876363	18876364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr12:18876363_18876364insT	ENST00000266505.7	-	4	511_512	c.248_249insA	c.(247-249)aacfs	p.N83fs	PLCZ1_ENST00000447925.2_Frame_Shift_Ins_p.N81fs|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAATTTTCCGGTTTTCAGAATA	0.332																																																0																																										SO:0001589	frameshift_variant	89869			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.249dupA	chr12.hg19:g.18876367_18876367dupT	ENSP00000266505:p.Asn83fs			Frame_Shift_Ins	INS	ENST00000266505.7	hg19	CCDS8680.1																																																																																				0.332	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123		T	18876364	-	T	18876363	7	5	238	1	0	1	1	0	0	0	0	0	12046	1252	44	0	1625	0	PLCZ1	12	18876363	Frame_Shift_Ins	INS	-	TCGA-B1-A656-01A-11D-A31X-10		18876363	114975532	57	14514											
C12orf40	283461	hgsc.bcm.edu	37	12	40076521	40076521	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr12:40076521delA	ENST00000324616.5	+	8	949	c.795delA	c.(793-795)tcafs	p.S265fs	C12orf40_ENST00000398716.1_Frame_Shift_Del_p.S188fs|C12orf40_ENST00000405531.3_Frame_Shift_Del_p.S265fs	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	265										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAAAACACTCAATACAGCATA	0.353																																																0													133	134	134					12																	40076521		1841	4086	5927	SO:0001589	frameshift_variant	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.795delA	chr12.hg19:g.40076521delA	ENSP00000317671:p.Ser265fs		B7WNU1|Q8IXY6|Q8N818|V9HW02	Frame_Shift_Del	DEL	ENST00000324616.5	hg19	CCDS41770.1																																																																																				0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		-	40076521	A	-	40076521	7	5	238	1	0	1	0	1	0	0	0	0	1688	117	5	0	825	0	C12orf40	12	40076521	Frame_Shift_Del	DEL	A	TCGA-B1-A656-01A-11D-A31X-10	21200158	40076521	93775374	58	14515											
LRIG3	121227	hgsc.bcm.edu	37	12	59268266	59268266	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr12:59268266T>G	ENST00000320743.3	-	17	3071	c.2785A>C	c.(2785-2787)Atg>Ctg	p.M929L	LRIG3_ENST00000379141.4_Missense_Mutation_p.M869L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	929					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTCAAATACATAGGGCCTGTG	0.428			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													148	135	139					12																	59268266		2203	4300	6503	SO:0001583	missense	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2785A>C	chr12.hg19:g.59268266T>G	ENSP00000326759:p.Met929Leu		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	hg19	CCDS8960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.815|4.815	0.151595|0.151595	0.09185|0.09185	.|.	.|.	ENSG00000139263|ENSG00000139263	ENST00000379141;ENST00000320743|ENST00000550825	T;T|.	0.54479|.	0.62;0.57|.	6.03|6.03	5.14|5.14	0.70334|0.70334	.|.	0.517740|.	0.14462|.	N|.	0.318092|.	T|T	0.19366|0.19366	0.0465|0.0465	N|N	0.12182|0.12182	0.205|0.205	0.18873|0.18873	N|N	0.999984|0.999984	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.16453|0.16453	-1.0402|-1.0402	9|5	.|.	.|.	.|.	.|.	4.6325|4.6325	0.12509|0.12509	0.2843:0.5306:0.0:0.1851|0.2843:0.5306:0.0:0.1851	.|.	869;929|.	Q6UXM1-2;Q6UXM1|.	.;LRIG3_HUMAN|.	L|S	869;929|30	ENSP00000368436:M869L;ENSP00000326759:M929L|.	.|.	M|Y	-|-	1|2	0|0	LRIG3|LRIG3	57554533|57554533	0.449000|0.449000	0.25689|0.25689	0.998000|0.998000	0.56505|0.56505	0.018000|0.018000	0.09664|0.09664	0.724000|0.724000	0.25954|0.25954	1.568000|1.568000	0.49683|0.49683	-0.132000|-0.132000	0.14878|0.14878	ATG|TAT		0.428	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		G	59268266	T	G	59268266	3	3	238	1	0	0	0	0	1	0	0	0	8948	1406	49	5	586	5	LRIG3	12	59268266	Missense_Mutation	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	19191745	59268266	74583629	59	14516											
GPN3	51184	hgsc.bcm.edu	37	12	110902939	110902939	+	Silent	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr12:110902939T>C	ENST00000228827.3	-	2	191	c.129A>G	c.(127-129)gcA>gcG	p.A43A	GPN3_ENST00000537466.2_Silent_p.A53A|GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000543199.1_Silent_p.A82A	NM_016301.3	NP_057385.3			GPN-loop GTPase 3											endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						TGAAGTGTTCTGCTGCTGGAT	0.547																																																0													190	151	164					12																	110902939		2203	4300	6503	SO:0001819	synonymous_variant	51184			BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"GPN-loop GTPases"	30186	protein-coding gene	gene with protein product			"ATP binding domain 1 family, member C"	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.129A>G	chr12.hg19:g.110902939T>C				Silent	SNP	ENST00000228827.3	hg19	CCDS9147.1																																																																																				0.547	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404607.1	NM_016301		C	110902939	T	C	110902939	2	2	238	1	0	0	0	0	0	0	0	1	6621	1567	55	3		3	GPN3	12	110902939	Silent	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	51634673	110902939	22948956	60	14517											
FAM155A	728215	hgsc.bcm.edu	37	13	108518698	108518698	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr13:108518698G>T	ENST00000375915.2	-	1	385	c.247C>A	c.(247-249)Cag>Aag	p.Q83K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	83	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						tgctgctgctgctgctgctgc	0.706																																																0													16	22	20					13																	108518698		1929	3762	5691	SO:0001583	missense	728215			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.247C>A	chr13.hg19:g.108518698G>T	ENSP00000365080:p.Gln83Lys		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	hg19	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487166	0.26686	.	.	ENSG00000204442	ENST00000375915	T	0.62364	0.03	4.45	4.45	0.53987	Armadillo-like helical (1);	0.715687	0.11618	N	0.546038	T	0.55146	0.1902	L	0.43923	1.385	0.25117	N	0.990675	B	0.13594	0.008	B	0.13407	0.009	T	0.45308	-0.9270	10	0.36615	T	0.2	.	12.5709	0.56337	0.0:0.0:1.0:0.0	.	83	B1AL88	F155A_HUMAN	K	83	ENSP00000365080:Q83K	ENSP00000365080:Q83K	Q	-	1	0	FAM155A	107316699	1.000000	0.71417	0.893000	0.35052	0.674000	0.39518	4.577000	0.60922	2.027000	0.59764	0.561000	0.74099	CAG		0.706	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		T	108518698	G	T	108518698	3	4	238	1	0	0	0	0	1	0	0	0	5467	1328	46	4	1141	4	FAM155A	13	108518698	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10		108518698	6651180	61	14518											
MCF2L	23263	hgsc.bcm.edu	37	13	113719317	113719318	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr13:113719317_113719318insG	ENST00000375608.3	+	8	822_823	c.764_765insG	c.(763-768)ctggctfs	p.A256fs	MCF2L_ENST00000421756.1_Frame_Shift_Ins_p.A230fs|MCF2L_ENST00000423482.2_Frame_Shift_Ins_p.A224fs|MCF2L_ENST00000375604.2_Frame_Shift_Ins_p.A283fs|MCF2L_ENST00000397030.1_Frame_Shift_Ins_p.A259fs|MCF2L_ENST00000434480.2_Frame_Shift_Ins_p.A232fs|MCF2L_ENST00000535094.2_Frame_Shift_Ins_p.A226fs|MCF2L_ENST00000442652.2_Frame_Shift_Ins_p.A256fs|MCF2L_ENST00000375597.4_Frame_Shift_Ins_p.A224fs|MCF2L_ENST00000375601.3_Frame_Shift_Ins_p.A230fs			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	256					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGACCGAGCTGGCTGAAACAG	0.564																																																0																																										SO:0001589	frameshift_variant	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.766dupG	chr13.hg19:g.113719319_113719319dupG	ENSP00000364758:p.Ala256fs		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Frame_Shift_Ins	INS	ENST00000375608.3	hg19																																																																																					0.564	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			G	113719318	-	G	113719317	7	5	238	1	0	1	1	0	0	0	0	0	9381	1580	55	0	966	0	MCF2L	13	113719317	Frame_Shift_Ins	INS	-	TCGA-B1-A656-01A-11D-A31X-10	5200619	113719317	1450561	62	14519											
THBS1	7057	hgsc.bcm.edu	37	15	39877738	39877738	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:39877738A>G	ENST00000260356.5	+	7	1259	c.1094A>G	c.(1093-1095)gAt>gGt	p.D365G		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	365	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ACAGTTCCTGATGGAGAATGC	0.507																																																0													218	152	174					15																	39877738		2200	4297	6497	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1094A>G	chr15.hg19:g.39877738A>G	ENSP00000260356:p.Asp365Gly		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	hg19	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	A	31	5.103828	0.94245	.	.	ENSG00000137801	ENST00000260356	T	0.65364	-0.15	5.86	5.86	0.93980	von Willebrand factor, type C (4);	0.000000	0.34676	N	0.003775	T	0.77751	0.4177	M	0.69463	2.115	0.58432	D	0.999998	D	0.76494	0.999	D	0.85130	0.997	T	0.79640	-0.1719	10	0.66056	D	0.02	-17.1145	15.4256	0.75048	1.0:0.0:0.0:0.0	.	365	P07996	TSP1_HUMAN	G	365	ENSP00000260356:D365G	ENSP00000260356:D365G	D	+	2	0	THBS1	37665030	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.339000	0.96797	2.237000	0.73441	0.533000	0.62120	GAT		0.507	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		G	39877738	A	G	39877738	3	3	238	1	0	0	0	0	1	0	0	0	15858	333	12	3	1116	3	THBS1	15	39877738	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10		39877738	62653654	63	14520											
SPINT1	6692	hgsc.bcm.edu	37	15	41136856	41136856	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:41136856C>A	ENST00000344051.4	+	2	338	c.104C>A	c.(103-105)gCc>gAc	p.A35D	SPINT1_ENST00000562057.1_Missense_Mutation_p.A35D|SPINT1_ENST00000431806.1_Missense_Mutation_p.A35D|RP11-532F12.5_ENST00000568419.1_RNA|RP11-532F12.5_ENST00000565315.1_RNA|RP11-532F12.5_ENST00000564302.1_RNA|RP11-532F12.5_ENST00000568525.1_RNA			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	35					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGCACCCAGGCCGGGCCACCG	0.761																																																0													6	8	8					15																	41136856		2067	4058	6125	SO:0001583	missense	6692				CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.104C>A	chr15.hg19:g.41136856C>A	ENSP00000342098:p.Ala35Asp		Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	hg19	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538187	0.65085	.	.	ENSG00000166145	ENST00000344051;ENST00000431806	D;D	0.95656	-3.76;-3.77	5.02	3.07	0.35406	.	0.452065	0.24688	N	0.036402	D	0.89591	0.6759	N	0.08118	0	0.09310	N	1	P;P;P	0.48162	0.906;0.9;0.906	B;P;P	0.49999	0.425;0.628;0.521	T	0.82341	-0.0505	10	0.29301	T	0.29	-21.5589	6.2982	0.21097	0.0:0.7099:0.1902:0.1	.	35;35;35	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	D	35	ENSP00000342098:A35D;ENSP00000409935:A35D	ENSP00000342098:A35D	A	+	2	0	SPINT1	38924148	0.876000	0.30132	0.328000	0.25416	0.002000	0.02628	3.594000	0.54008	1.206000	0.43276	0.563000	0.77884	GCC		0.761	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		A	41136856	C	A	41136856	3	1	238	1	0	0	0	0	1	0	0	0	15073	739	26	4	106	4	SPINT1	15	41136856	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	1259118	41136856	61394536	64	14521											
LRRC57	255252	hgsc.bcm.edu	37	15	42837381	42837381	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:42837381C>T	ENST00000323443.2	-	4	939	c.572G>A	c.(571-573)aGc>aAc	p.S191N	LRRC57_ENST00000563454.1_Missense_Mutation_p.S191N|LRRC57_ENST00000397130.3_Missense_Mutation_p.S191N			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	191						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		GGGAAGCATGCTGAGCTCAAG	0.423																																																0													99	94	96					15																	42837381		2203	4299	6502	SO:0001583	missense	255252			AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.572G>A	chr15.hg19:g.42837381C>T	ENSP00000326817:p.Ser191Asn		Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	hg19	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243740	0.58995	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.46451	0.87;0.87	5.36	4.43	0.53597	.	0.131595	0.64402	D	0.000001	T	0.32763	0.0840	L	0.33339	1.005	0.54753	D	0.999984	B	0.11235	0.004	B	0.09377	0.004	T	0.08126	-1.0737	10	0.34782	T	0.22	.	14.3053	0.66380	0.0:0.9273:0.0:0.0727	.	191	Q8N9N7	LRC57_HUMAN	N	191	ENSP00000326817:S191N;ENSP00000380319:S191N	ENSP00000326817:S191N	S	-	2	0	LRRC57	40624673	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.969000	0.49232	2.520000	0.84964	0.557000	0.71058	AGC		0.423	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		T	42837381	C	T	42837381	3	4	238	1	0	0	0	0	1	0	0	0	9015	797	28	2	155	2	LRRC57	15	42837381	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	1700525	42837381	59694011	65	14522											
SHC4	399694	hgsc.bcm.edu	37	15	49148178	49148178	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:49148178G>T	ENST00000332408.4	-	8	1642	c.1214C>A	c.(1213-1215)cCc>cAc	p.P405H	SHC4_ENST00000396535.3_Missense_Mutation_p.P162H|SHC4_ENST00000537958.1_Missense_Mutation_p.P119H	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	405	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACACTGTATGGGGCAGTAAGC	0.408																																																0													140	128	132					15																	49148178		2197	4294	6491	SO:0001583	missense	399694			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1214C>A	chr15.hg19:g.49148178G>T	ENSP00000329668:p.Pro405His		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	hg19	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.293981	0.60086	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.31769	3.48;1.48;1.5	5.03	5.03	0.67393	.	0.200639	0.36134	N	0.002762	T	0.44435	0.1293	L	0.43923	1.385	0.46521	D	0.999085	P;D	0.69078	0.575;0.997	B;P	0.60886	0.211;0.88	T	0.31194	-0.9952	10	0.59425	D	0.04	-10.6953	15.38	0.74648	0.0:0.0:1.0:0.0	.	162;405	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	H	405;162;119	ENSP00000329668:P405H;ENSP00000379786:P162H;ENSP00000443300:P119H	ENSP00000329668:P405H	P	-	2	0	SHC4	46935470	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.871000	0.69628	2.612000	0.88384	0.655000	0.94253	CCC		0.408	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		T	49148178	G	T	49148178	3	4	238	1	0	0	0	0	1	0	0	0	14279	1232	43	4	698	4	SHC4	15	49148178	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	6310797	49148178	53383214	66	14523											
FBXL22	283807	hgsc.bcm.edu	37	15	63889797	63889797	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:63889797C>T	ENST00000360587.2	+	1	246	c.206C>T	c.(205-207)cCg>cTg	p.P69L	USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000559737.1_RNA|FBXL22_ENST00000534939.1_Missense_Mutation_p.P69L|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560622.1_RNA|FBXL22_ENST00000539570.3_Missense_Mutation_p.P63L	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	69					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						CTCCTGGGCCCGGCACTCCGC	0.617																																																0													47	38	41					15																	63889797		2203	4300	6503	SO:0001583	missense	283807			BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"F-boxes / Leucine-rich repeats"	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.206C>T	chr15.hg19:g.63889797C>T	ENSP00000353794:p.Pro69Leu			Missense_Mutation	SNP	ENST00000360587.2	hg19	CCDS10187.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799631	0.90538	.	.	ENSG00000197361	ENST00000360587;ENST00000539570	T;T	0.38722	1.12;1.12	5.72	5.72	0.89469	.	0.183522	0.48767	D	0.000162	T	0.58352	0.2116	L	0.48642	1.525	0.58432	D	0.999999	D	0.76494	0.999	D	0.63957	0.92	T	0.58940	-0.7547	10	0.87932	D	0	-2.5763	18.8613	0.92273	0.0:1.0:0.0:0.0	.	63	Q6P050	FXL22_HUMAN	L	69;63	ENSP00000353794:P69L;ENSP00000442112:P63L	ENSP00000353794:P69L	P	+	2	0	FBXL22	61676850	1.000000	0.71417	0.959000	0.39883	0.594000	0.36715	7.583000	0.82559	2.699000	0.92147	0.563000	0.77884	CCG		0.617	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256412.4	NM_203373		T	63889797	C	T	63889797	3	4	238	1	0	0	0	0	1	0	0	0	5721	652	23	1	190	1	FBXL22	15	63889797	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	14741619	63889797	38641595	67	14524											
LARP6	55323	hgsc.bcm.edu	37	15	71128826	71128826	+	Silent	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:71128826T>C	ENST00000299213.8	-	2	289	c.219A>G	c.(217-219)ggA>ggG	p.G73G		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	73					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CGTTCTCACCTCCACTTGCAG	0.522																																																0													70	72	71					15																	71128826		2199	4297	6496	SO:0001819	synonymous_variant	55323			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.219A>G	chr15.hg19:g.71128826T>C			Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	ENST00000299213.8	hg19	CCDS32281.1																																																																																				0.522	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		C	71128826	T	C	71128826	2	2	238	1	0	0	0	0	0	0	0	1	8634	1538	54	3		3	LARP6	15	71128826	Silent	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	7239029	71128826	31402566	68	14525											
NTRK3	4916	hgsc.bcm.edu	37	15	88680721	88680721	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr15:88680721T>C	ENST00000360948.2	-	6	697	c.536A>G	c.(535-537)gAg>gGg	p.E179G	NTRK3_ENST00000357724.2_Missense_Mutation_p.E179G|NTRK3_ENST00000558676.1_Missense_Mutation_p.E179G|NTRK3_ENST00000557856.1_Missense_Mutation_p.E179G|NTRK3_ENST00000355254.2_Missense_Mutation_p.E179G|NTRK3_ENST00000540489.2_Missense_Mutation_p.E179G|NTRK3_ENST00000394480.2_Missense_Mutation_p.E179G|NTRK3_ENST00000317501.3_Missense_Mutation_p.E179G|NTRK3_ENST00000542733.2_Missense_Mutation_p.E81G	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	179	LRRCT.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGCTTGGCCTCCCCCTGCTC	0.567			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													124	94	104					15																	88680721		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.536A>G	chr15.hg19:g.88680721T>C	ENSP00000354207:p.Glu179Gly		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	hg19	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219821	0.58560	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	D;D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.71	5.71	0.89125	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92331	0.7567	L	0.51422	1.61	0.58432	D	0.999993	D;D;P;D;D;P	0.76494	0.999;0.999;0.47;0.999;0.998;0.47	D;D;B;D;D;B	0.81914	0.995;0.986;0.244;0.995;0.993;0.244	D	0.91792	0.5444	10	0.40728	T	0.16	.	15.1854	0.72996	0.0:0.0:0.0:1.0	.	81;179;179;179;179;179	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	G	179;179;179;179;81;179;179	ENSP00000377990:E179G;ENSP00000354207:E179G;ENSP00000350356:E179G;ENSP00000347397:E179G;ENSP00000437773:E81G;ENSP00000444673:E179G;ENSP00000318328:E179G	ENSP00000318328:E179G	E	-	2	0	NTRK3	86481725	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.723000	0.68492	2.171000	0.68590	0.528000	0.53228	GAG		0.567	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				C	88680721	T	C	88680721	3	2	238	1	0	0	0	0	1	0	0	0	10710	1551	54	3	2301	3	NTRK3	15	88680721	Missense_Mutation	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	17551895	88680721	13850671	69	14526											
PARN	5073	hgsc.bcm.edu	37	16	14678281	14678281	+	Splice_Site	SNP	T	T	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:14678281T>C	ENST00000437198.2	-	16	1147		c.e16-2		PARN_ENST00000539279.1_Splice_Site|PARN_ENST00000420015.2_Splice_Site|PARN_ENST00000341484.7_Splice_Site	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease						female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						AATGATATCCTGCAAACCACG	0.383																																																0													52	50	51					16																	14678281		1825	4081	5906	SO:0001630	splice_region_variant	5073			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1006-2A>G	chr16.hg19:g.14678281T>C			B2RCB3|B4DDG8|B4DWR4|B4E1H6	Splice_Site	SNP	ENST00000437198.2	hg19	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876641	0.72180	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9377	0.70970	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARN	14585782	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.627000	0.74258	2.198000	0.70561	0.456000	0.33151	.		0.383	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582	Intron	C	14678281	T	C	14678281	5	2	238	1	0	0	0	0	0	0	1	0	11455	1594	55	3	951	3	PARN	16	14678281	Splice_Site	SNP	T	TCGA-B1-A656-01A-11D-A31X-10		14678281	75676472	70	14527											
ACSM2A	123876	hgsc.bcm.edu	37	16	20489950	20489950	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:20489950G>A	ENST00000573854.1	+	10	1346	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	ACSM2A_ENST00000396104.2_Missense_Mutation_p.G411D|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G411D|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G411D|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G332D|ACSM2A_ENST00000536134.1_Missense_Mutation_p.G183D	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	411					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGAGACATTGGCATCAGGGTC	0.527																																																0													103	87	92					16																	20489950		2203	4297	6500	SO:0001583	missense	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1232G>A	chr16.hg19:g.20489950G>A	ENSP00000459451:p.Gly411Asp		B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	hg19	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	9.906	1.208165	0.22205	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	3.33	0.71	0.18157	AMP-dependent synthetase/ligase (1);	0.312022	0.23048	N	0.052540	T	0.57975	0.2090	M	0.68952	2.095	0.20638	N	0.99987	D;D	0.76494	0.999;0.999	D;D	0.74674	0.977;0.984	T	0.52313	-0.8592	10	0.87932	D	0	-4.1522	11.8873	0.52610	0.0:0.6828:0.3172:0.0	.	332;411	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	D	332;411;183;411	ENSP00000392169:G332D;ENSP00000219054:G411D;ENSP00000445082:G183D;ENSP00000379411:G411D	ENSP00000219054:G411D	G	+	2	0	ACSM2A	20397451	0.419000	0.25449	0.008000	0.14137	0.141000	0.21300	0.682000	0.25335	0.408000	0.25621	0.289000	0.19496	GGC		0.527	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		A	20489950	G	A	20489950	3	1	238	1	0	0	0	0	1	0	0	0	183	1203	42	2	1266	2	ACSM2A	16	20489950	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	5811669	20489950	69864803	71	14528											
TNRC6A	27327	hgsc.bcm.edu	37	16	24801321	24801321	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:24801321C>G	ENST00000395799.3	+	6	1487	c.1358C>G	c.(1357-1359)cCa>cGa	p.P453R	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P453R	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	453	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P453Q(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGACTGGACCAAATAACACT	0.438																																																1	Substitution - Missense(1)	lung(1)											58	56	57					16																	24801321		2197	4300	6497	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1358C>G	chr16.hg19:g.24801321C>G	ENSP00000379144:p.Pro453Arg		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	hg19	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243926	0.58995	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.44881	0.91;1.02	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.989;0.999;0.998	T	0.67138	-0.5746	10	0.72032	D	0.01	-7.5051	20.3594	0.98849	0.0:1.0:0.0:0.0	.	200;453;453	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	R	453	ENSP00000326900:P453R;ENSP00000379144:P453R	ENSP00000326900:P453R	P	+	2	0	TNRC6A	24708822	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.247000	0.78257	2.816000	0.96949	0.563000	0.77884	CCA		0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		G	24801321	C	G	24801321	3	3	238	1	0	0	0	0	1	0	0	0	16345	594	21	4	1380	4	TNRC6A	16	24801321	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	4311371	24801321	65553432	72	14529											
PYDC1	260434	hgsc.bcm.edu	37	16	31228204	31228204	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:31228204A>G	ENST00000302964.3	-	1	476	c.146T>C	c.(145-147)aTc>aCc	p.I49T	TRIM72_ENST00000322122.3_Intron|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	49	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GAGGTCCACGATATCTAGCTG	0.652																																																0													68	61	63					16																	31228204		2197	4300	6497	SO:0001583	missense	260434				CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"pyrin domain containing 1"			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407	ENST00000302964.3:c.146T>C	chr16.hg19:g.31228204A>G	ENSP00000304336:p.Ile49Thr		B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	hg19	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.362629	0.24684	.	.	ENSG00000169900	ENST00000302964	T	0.45276	0.9	4.3	0.865	0.19074	Pyrin (2);DEATH-like (2);	2.187950	0.03117	U	0.163273	T	0.29355	0.0731	.	.	.	0.09310	N	1	P	0.42296	0.775	B	0.40864	0.342	T	0.18209	-1.0344	9	0.18710	T	0.47	.	5.5097	0.16874	0.124:0.4356:0.4404:0.0	.	49	Q8WXC3	PYDC1_HUMAN	T	49	ENSP00000304336:I49T	ENSP00000304336:I49T	I	-	2	0	PYDC1	31135705	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.903000	0.04084	0.401000	0.25424	-0.415000	0.06103	ATC		0.652	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		G	31228204	A	G	31228204	3	3	238	1	0	0	0	0	1	0	0	0	12864	333	12	3	127	3	PYDC1	16	31228204	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10	6426883	31228204	59126549	73	14530											
N4BP1	9683	hgsc.bcm.edu	37	16	48576974	48576974	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr16:48576974G>A	ENST00000262384.3	-	7	2768	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	844					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GAGCTGGCATGGGCAGGTTCT	0.577																																																0													53	52	53					16																	48576974		1974	4170	6144	SO:0001819	synonymous_variant	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.2532C>T	chr16.hg19:g.48576974G>A			A7MD49|Q2YDX1	Silent	SNP	ENST00000262384.3	hg19	CCDS45479.1																																																																																				0.577	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		A	48576974	G	A	48576974	2	1	238	1	0	0	0	0	0	0	0	1	10111	1335	47	2		2	N4BP1	16	48576974	Silent	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	17348770	48576974	41777779	74	14531											
HS3ST3A1	9955	hgsc.bcm.edu	37	17	13504436	13504436	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:13504436G>T	ENST00000284110.1	-	1	808	c.11C>A	c.(10-12)cCg>cAg	p.P4Q		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	4					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGCCGGGCCCGGAGGGGCCAT	0.711																																																0													21	21	21					17																	13504436		2176	4264	6440	SO:0001583	missense	9955			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.11C>A	chr17.hg19:g.13504436G>T	ENSP00000284110:p.Pro4Gln		A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	hg19	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778371	0.31502	.	.	ENSG00000153976	ENST00000284110	T	0.50548	0.74	2.79	-0.456	0.12190	.	0.327925	0.15205	U	0.274780	T	0.30854	0.0778	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.05632	-1.0873	10	0.66056	D	0.02	.	9.3973	0.38410	0.3961:0.0:0.6039:0.0	.	4	Q9Y663	HS3SA_HUMAN	Q	4	ENSP00000284110:P4Q	ENSP00000284110:P4Q	P	-	2	0	HS3ST3A1	13445161	0.000000	0.05858	0.792000	0.32020	0.729000	0.41735	-0.271000	0.08572	-0.327000	0.08551	-1.119000	0.02030	CCG		0.711	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		T	13504436	G	T	13504436	3	4	238	1	0	0	0	0	1	0	0	0	7367	1116	39	4	1217	4	HS3ST3A1	17	13504436	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10		13504436	67690774	75	14532											
ZNF830	91603	hgsc.bcm.edu	37	17	33288777	33288777	+	Silent	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:33288777C>A	ENST00000361952.3	+	1	229	c.192C>A	c.(190-192)ctC>ctA	p.L64L	CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000421975.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	64					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AGAGCGAGCTCCTGTGGCAGA	0.582																																																0													93	90	91					17																	33288777		2203	4300	6503	SO:0001819	synonymous_variant	91603			AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"orphan maintenance of genome 1"		"coiled-coil domain containing 16"	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.192C>A	chr17.hg19:g.33288777C>A			Q96F60|Q96GZ5|Q9BU38	Silent	SNP	ENST00000361952.3	hg19	CCDS32618.1																																																																																				0.582	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		A	33288777	C	A	33288777	2	1	238	1	0	0	0	0	0	0	0	1	18189	842	30	4		4	ZNF830	17	33288777	Silent	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	19784341	33288777	47906433	76	14533											
GGNBP2	79893	hgsc.bcm.edu	37	17	34934557	34934557	+	Silent	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:34934557C>T	ENST00000304718.4	+	7	1102	c.786C>T	c.(784-786)tgC>tgT	p.C262C		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	262					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.C262C(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACATGTTTGCTGTGAAACAG	0.463																																																1	Substitution - coding silent(1)	lung(1)											216	194	201					17																	34934557		2203	4300	6503	SO:0001819	synonymous_variant	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.786C>T	chr17.hg19:g.34934557C>T			B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	hg19	CCDS11314.1																																																																																				0.463	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		T	34934557	C	T	34934557	2	4	238	1	0	0	0	0	0	0	0	1	6361	805	28	2		2	GGNBP2	17	34934557	Silent	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	1645780	34934557	46260653	77	14534											
RPRML	388394	hgsc.bcm.edu	37	17	45056083	45056083	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:45056083G>T	ENST00000322329.3	-	1	531	c.291C>A	c.(289-291)agC>agA	p.S97R	LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN	reprimo-like	97						integral component of membrane (GO:0016021)				lung(1)	1						AGTTGATCATGCTCTCGGACT	0.652																																																0													34	32	33					17																	45056083		2201	4300	6501	SO:0001583	missense	388394			BC033942	CCDS11508.1	17q21.32	2006-09-26				ENSG00000179673			32422	protein-coding gene	gene with protein product							Standard	NM_203400		Approved	MGC43894	uc002ilb.3	Q8N4K4		ENST00000322329.3:c.291C>A	chr17.hg19:g.45056083G>T	ENSP00000318032:p.Ser97Arg			Missense_Mutation	SNP	ENST00000322329.3	hg19	CCDS11508.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444031	0.63067	.	.	ENSG00000179673	ENST00000322329	.	.	.	3.72	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	L	0.52573	1.65	0.58432	D	0.999997	D	0.76494	0.999	D	0.72075	0.976	T	0.65561	-0.6138	9	0.52906	T	0.07	-8.687	10.3405	0.43875	0.103:0.0:0.897:0.0	.	97	Q8N4K4	RPRML_HUMAN	R	97	.	ENSP00000318032:S97R	S	-	3	2	RPRML	42411082	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.546000	0.45778	0.727000	0.32360	0.313000	0.20887	AGC		0.652	RPRML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440919.1	NM_203400		T	45056083	G	T	45056083	3	4	238	1	0	0	0	0	1	0	0	0	13625	1310	46	4	75	4	RPRML	17	45056083	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	10121526	45056083	36139127	78	14535											
HOXB4	3214	hgsc.bcm.edu	37	17	46655633	46655634	+	In_Frame_Ins	INS	-	-	CTT			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr17:46655633_46655634insCTT	ENST00000332503.5	-	1	1839_1840	c.48_49insAAG	c.(46-51)aagttc>aagAAGttc	p.16_17insK	HOXB3_ENST00000472863.1_Intron|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000476342.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	16	Pro-rich (part of the transcriptional activation domain).				anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CATGGAGGGAACTTGGGGTCGA	0.5																																																0																																										SO:0001652	inframe_insertion	3214				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.46_48dupAAG	chr17.hg19:g.46655634_46655636dupCTT	ENSP00000328928:p.Lys16_Lys16dup		Q9NTA0	In_Frame_Ins	INS	ENST00000332503.5	hg19	CCDS11529.1																																																																																				0.5	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			CTT	46655634	-	CTT	46655633	7	5	238	1	0	1	1	0	0	0	0	0	7305	43	2	0	714	0	HOXB4	17	46655633	In_Frame_Ins	INS	-	TCGA-B1-A656-01A-11D-A31X-10	1599550	46655633	34539577	79	14536											
CEP192	55125	hgsc.bcm.edu	37	18	13055803	13055803	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr18:13055803A>T	ENST00000325971.8	+	17	3019	c.1426A>T	c.(1426-1428)Acc>Tcc	p.T476S	CEP192_ENST00000506447.1_Missense_Mutation_p.T1072S|CEP192_ENST00000430049.2_Missense_Mutation_p.T597S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	476					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGAGTTGAGTACCACAATTAT	0.368																																																0													57	57	57					18																	13055803		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1426A>T	chr18.hg19:g.13055803A>T	ENSP00000317156:p.Thr476Ser		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	hg19		.	.	.	.	.	.	.	.	.	.	A	19.71	3.878317	0.72294	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.21031	2.03;2.03;2.03	4.5	4.5	0.54988	.	0.111905	0.39687	N	0.001284	T	0.22704	0.0548	L	0.39397	1.21	0.42538	D	0.993064	B;B;P	0.43973	0.291;0.291;0.823	B;B;P	0.44477	0.214;0.214;0.451	T	0.02307	-1.1179	10	0.44086	T	0.13	-5.7927	14.1063	0.65091	1.0:0.0:0.0:0.0	.	597;1072;476	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	S	1072;476;476;597	ENSP00000427550:T1072S;ENSP00000317156:T476S;ENSP00000389190:T597S	ENSP00000317156:T476S	T	+	1	0	CEP192	13045803	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	6.760000	0.74939	1.790000	0.52503	0.460000	0.39030	ACC		0.368	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		T	13055803	A	T	13055803	3	4	238	1	0	0	0	0	1	0	0	0	3253	391	14	5	3284	5	CEP192	18	13055803	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10		13055803	65021445	80	14537											
PHLPP1	23239	hgsc.bcm.edu	37	18	60384475	60384475	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr18:60384475T>A	ENST00000262719.5	+	1	1793	c.1559T>A	c.(1558-1560)cTc>cAc	p.L520H	PHLPP1_ENST00000400316.4_Missense_Mutation_p.L8H			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	520					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						ATTGGCTGCCTCATCCGCTTC	0.537																																																0													76	88	84					18																	60384475		2032	4181	6213	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1559T>A	chr18.hg19:g.60384475T>A	ENSP00000262719:p.Leu520His		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	hg19	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221833	0.79464	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.35605	1.52;1.3	3.91	3.91	0.45181	.	.	.	.	.	T	0.49932	0.1586	L	0.43923	1.385	0.45272	D	0.998273	D	0.89917	1.0	D	0.87578	0.998	T	0.51498	-0.8698	9	0.66056	D	0.02	-10.6803	11.9254	0.52817	0.0:0.0:0.0:1.0	.	520	O60346	PHLP1_HUMAN	H	8;520	ENSP00000383170:L8H;ENSP00000262719:L520H	ENSP00000262719:L520H	L	+	2	0	PHLPP1	58535455	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.650000	0.74368	1.653000	0.50694	0.454000	0.30748	CTC		0.537	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		A	60384475	T	A	60384475	3	1	238	1	0	0	0	0	1	0	0	0	11856	1551	54	5	1561	5	PHLPP1	18	60384475	Missense_Mutation	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	47328672	60384475	17692773	81	14538											
FEM1A	55527	hgsc.bcm.edu	37	19	4792820	4792820	+	Silent	SNP	C	C	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:4792820C>A	ENST00000269856.3	+	1	1093	c.954C>A	c.(952-954)gcC>gcA	p.A318A	AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	318					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGCTTGGGGCCCTTAAACACT	0.597																																																0													47	51	50					19																	4792820		2203	4299	6502	SO:0001819	synonymous_variant	55527			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.954C>A	chr19.hg19:g.4792820C>A			B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Silent	SNP	ENST00000269856.3	hg19	CCDS12135.1																																																																																				0.597	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			A	4792820	C	A	4792820	2	1	238	1	0	0	0	0	0	0	0	1	5811	610	22	4		4	FEM1A	19	4792820	Silent	SNP	C	TCGA-B1-A656-01A-11D-A31X-10		4792820	54336163	82	14539											
ZNF558	148156	hgsc.bcm.edu	37	19	8922694	8922694	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:8922694A>G	ENST00000601372.1	-	10	1183	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L	ZNF558_ENST00000301475.1_Missense_Mutation_p.F158L|ZNF558_ENST00000444186.2_Missense_Mutation_p.F87L			Q96NG5	ZN558_HUMAN	zinc finger protein 558	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AAGACTTTAAAACACTGATTA	0.338																																																0													42	38	40					19																	8922694		2203	4300	6503	SO:0001583	missense	148156			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"Zinc fingers, C2H2-type", "-"	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.472T>C	chr19.hg19:g.8922694A>G	ENSP00000471277:p.Phe158Leu		A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	hg19	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492197	0.84962	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.07216	3.21;3.21	5.07	4.0	0.46444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000434	T	0.04137	0.0115	N	0.12182	0.205	0.34332	D	0.687801	P	0.39250	0.665	B	0.30716	0.119	T	0.30208	-0.9986	10	0.72032	D	0.01	-19.1944	8.9778	0.35946	0.7058:0.2942:0.0:0.0	.	158	Q96NG5	ZN558_HUMAN	L	158;87	ENSP00000301475:F158L;ENSP00000410703:F87L	ENSP00000301475:F158L	F	-	1	0	ZNF558	8783694	0.975000	0.34042	0.999000	0.59377	0.988000	0.76386	1.844000	0.39269	2.128000	0.65567	0.482000	0.46254	TTT		0.338	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		G	8922694	A	G	8922694	3	3	238	1	0	0	0	0	1	0	0	0	17994	14	1	3	740	3	ZNF558	19	8922694	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10	4129874	8922694	50206289	83	14540											
ZNF426	79088	hgsc.bcm.edu	37	19	9639297	9639297	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:9639297G>A	ENST00000535489.1	-	6	1760	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	ZNF426_ENST00000593003.1_Missense_Mutation_p.P437L|ZNF426_ENST00000253115.2_Missense_Mutation_p.P475L			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACACTCATAGGGTTTTTCTCC	0.428																																																0													95	93	94					19																	9639297		2203	4300	6503	SO:0001583	missense	79088			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1424C>T	chr19.hg19:g.9639297G>A	ENSP00000439017:p.Pro475Leu		B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	hg19	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326242	0.60743	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.17054	2.3;2.3	1.52	1.52	0.23074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36717	0.0977	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.24012	-1.0172	9	0.72032	D	0.01	.	8.9649	0.35869	0.0:0.0:1.0:0.0	.	462;475	Q59EH4;Q9BUY5	.;ZN426_HUMAN	L	462;475;475	ENSP00000253115:P475L;ENSP00000439017:P475L	ENSP00000253115:P475L	P	-	2	0	ZNF426	9500297	0.426000	0.25506	0.005000	0.12908	0.100000	0.18952	1.495000	0.35627	1.133000	0.42147	0.563000	0.77884	CCC		0.428	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		A	9639297	G	A	9639297	3	1	238	1	0	0	0	0	1	0	0	0	17905	1232	43	2	244	2	ZNF426	19	9639297	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	716603	9639297	49489686	84	14541											
ICAM3	3385	hgsc.bcm.edu	37	19	10444569	10444569	+	Silent	SNP	T	T	A	rs369252388		TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:10444569T>A	ENST00000160262.5	-	7	1816	c.1608A>T	c.(1606-1608)acA>acT	p.T536T	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Silent_p.T459T	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	536					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCATTGCTTCTGTCGGCTGCA	0.567																																																0								T		0,4406		0,0,2203	180	166	171		1608	-8.7	0	19		171	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ICAM3	NM_002162.3		0,1,6502	AA,AT,TT		0.0116,0.0,0.0077		536/548	10444569	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1608A>T	chr19.hg19:g.10444569T>A			Q6PD68	Silent	SNP	ENST00000160262.5	hg19	CCDS12235.1																																																																																				0.567	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			A	10444569	T	A	10444569	2	1	238	1	0	0	0	0	0	0	0	1	7483	1567	55	5		5	ICAM3	19	10444569	Silent	SNP	T	TCGA-B1-A656-01A-11D-A31X-10	805272	10444569	48684414	85	14542											
CYP4F3	4051	hgsc.bcm.edu	37	19	15752256	15752256	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:15752256C>G	ENST00000221307.8	+	2	78	c.31C>G	c.(31-33)Ctt>Gtt	p.L11V	CYP4F3_ENST00000585846.1_Missense_Mutation_p.L11V|CYP4F3_ENST00000591058.1_Missense_Mutation_p.L11V|CYP4F3_ENST00000586182.2_Missense_Mutation_p.L11V	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	11					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTCGCTGGGCCTTTGGCCAAT	0.652																																																0													56	56	56					19																	15752256		2203	4300	6503	SO:0001583	missense	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.31C>G	chr19.hg19:g.15752256C>G	ENSP00000221307:p.Leu11Val		B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	hg19	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	12.16	1.854157	0.32791	.	.	ENSG00000186529	ENST00000221307	D	0.93426	-3.22	3.73	2.65	0.31530	.	0.298234	0.22742	U	0.056184	D	0.92450	0.7603	M	0.73598	2.24	0.09310	N	1	P;P	0.38420	0.63;0.63	B;B	0.43082	0.317;0.407	D	0.85130	0.0974	10	0.42905	T	0.14	.	8.5276	0.33315	0.2301:0.7698:0.0:0.0	.	11;11	B7Z8Z3;Q08477	.;CP4F3_HUMAN	V	11	ENSP00000221307:L11V	ENSP00000221307:L11V	L	+	1	0	CYP4F3	15613256	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.157000	0.10085	0.504000	0.28082	0.411000	0.27672	CTT		0.652	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		G	15752256	C	G	15752256	3	3	238	1	0	0	0	0	1	0	0	0	4192	681	24	4	33	4	CYP4F3	19	15752256	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	5307687	15752256	43376727	86	14543											
ZNF506	440515	hgsc.bcm.edu	37	19	19905760	19905760	+	Silent	SNP	G	G	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:19905760G>C	ENST00000540806.2	-	4	1024	c.936C>G	c.(934-936)ccC>ccG	p.P312P	ZNF506_ENST00000450683.2_Silent_p.P280P|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000443905.2_Silent_p.P312P|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CACATTTGTAGGGTTTCTCTC	0.373																																																0													55	59	57					19																	19905760		2197	4300	6497	SO:0001819	synonymous_variant	440515			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"Zinc fingers, C2H2-type", "-"	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.936C>G	chr19.hg19:g.19905760G>C			B3KTH6	Silent	SNP	ENST00000540806.2	hg19	CCDS42531.1																																																																																				0.373	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		C	19905760	G	C	19905760	2	2	238	1	0	0	0	0	0	0	0	1	17957	987	35	4		4	ZNF506	19	19905760	Silent	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	4153504	19905760	39223223	87	14544											
CYP2F1	1572	hgsc.bcm.edu	37	19	41627458	41627458	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:41627458C>T	ENST00000331105.2	+	5	652	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	194					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGATGATGAGCGTCTGCTCAC	0.562																																																0													113	115	115					19																	41627458		2181	4299	6480	SO:0001583	missense	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.580C>T	chr19.hg19:g.41627458C>T	ENSP00000333534:p.Arg194Cys		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	hg19	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	c	10.84	1.464169	0.26335	.	.	ENSG00000197446	ENST00000331105	T	0.69435	-0.4	2.87	2.87	0.33458	.	0.714608	0.13306	U	0.397870	T	0.79052	0.4381	M	0.79475	2.455	0.34749	D	0.731557	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.983	T	0.82147	-0.0601	10	0.72032	D	0.01	.	7.7914	0.29123	0.0:0.7393:0.2607:0.0	.	194;194	Q32MN5;P24903	.;CP2F1_HUMAN	C	194	ENSP00000333534:R194C	ENSP00000333534:R194C	R	+	1	0	CYP2F1	46319298	0.000000	0.05858	0.113000	0.21522	0.208000	0.24298	-0.348000	0.07740	1.461000	0.47929	0.064000	0.15345	CGT		0.562	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			T	41627458	C	T	41627458	3	4	238	1	0	0	0	0	1	0	0	0	4173	768	27	1	594	1	CYP2F1	19	41627458	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	21721698	41627458	17501525	88	14545											
PSG9	5678	hgsc.bcm.edu	37	19	43772079	43772079	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:43772079C>T	ENST00000270077.3	-	2	383	c.287G>A	c.(286-288)aGt>aAt	p.S96N	PSG9_ENST00000418820.2_Missense_Mutation_p.S96N|PSG9_ENST00000593948.1_Missense_Mutation_p.S96N|PSG9_ENST00000443718.3_Missense_Mutation_p.S96N|PSG9_ENST00000291752.5_Missense_Mutation_p.S96N|PSG9_ENST00000596730.1_Missense_Mutation_p.S96N|PSG9_ENST00000244293.7_Missense_Mutation_p.S96N	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	96	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTCTCTTCCACTGTATGCAGG	0.428																																																0													250	239	243					19																	43772079		2203	4300	6503	SO:0001583	missense	5678			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.287G>A	chr19.hg19:g.43772079C>T	ENSP00000270077:p.Ser96Asn		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	hg19	CCDS12618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.79|10.79	1.448341|1.448341	0.26074|0.26074	.|.	.|.	ENSG00000183668|ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293|ENST00000418820	T;T;T;T|.	0.69175|.	-0.38;-0.38;-0.38;-0.38|.	1.56|1.56	-1.3|-1.3	0.09259|0.09259	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.65249|0.65249	0.2673|0.2673	M|M	0.93507|0.93507	3.425|3.425	0.09310|0.09310	N|N	1|1	P;P;D;P;B;B|.	0.53885|.	0.729;0.904;0.963;0.872;0.056;0.184|.	P;D;D;P;B;B|.	0.67231|.	0.826;0.921;0.95;0.686;0.272;0.393|.	T|T	0.59873|0.59873	-0.7372|-0.7372	9|5	0.54805|.	T|.	0.06|.	.|.	7.098|7.098	0.25321|0.25321	0.0:0.4456:0.5544:0.0|0.0:0.4456:0.5544:0.0	.|.	96;45;96;96;96;96|.	E7EW65;Q15225;Q15227;G3XAA7;Q6LEU7;Q00887|.	.;.;.;.;.;PSG9_HUMAN|.	N|M	96;96;96;57;96|83	ENSP00000270077:S96N;ENSP00000291752:S96N;ENSP00000396753:S96N;ENSP00000244293:S96N|.	ENSP00000244293:S96N|.	S|V	-|-	2|1	0|0	PSG9|PSG9	48463919|48463919	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.052000|0.052000	0.14988|0.14988	-0.107000|-0.107000	0.10873|0.10873	-0.216000|-0.216000	0.10048|0.10048	-0.876000|-0.876000	0.02978|0.02978	AGT|GTG		0.428	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		T	43772079	C	T	43772079	3	4	238	1	0	0	0	0	1	0	0	0	12667	565	20	2	1013	2	PSG9	19	43772079	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	2144621	43772079	15356904	89	14546											
ZNF836	162962	hgsc.bcm.edu	37	19	52660313	52660313	+	Missense_Mutation	SNP	A	A	T	rs186568049		TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:52660313A>T	ENST00000322146.8	-	5	1144	c.623T>A	c.(622-624)cTt>cAt	p.L208H	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.L208H	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTTTTCTCAAGTTGGGTGGG	0.373																																																0													66	64	65					19																	52660313		1911	4155	6066	SO:0001583	missense	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.623T>A	chr19.hg19:g.52660313A>T	ENSP00000325038:p.Leu208His			Missense_Mutation	SNP	ENST00000322146.8	hg19	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	A	0.030	-1.337491	0.01287	.	.	ENSG00000196267	ENST00000322146;ENST00000396443	T	0.06371	3.31	1.8	-0.761	0.11038	.	.	.	.	.	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	P	0.50943	0.94	B	0.43783	0.431	T	0.13737	-1.0498	9	0.02654	T	1	.	2.5139	0.04663	0.2469:0.1649:0.0:0.5882	.	208	Q6ZNA1	ZN836_HUMAN	H	208;6	ENSP00000325038:L208H	ENSP00000325038:L208H	L	-	2	0	ZNF836	57352125	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.440000	0.21592	-0.496000	0.06650	-1.328000	0.01277	CTT		0.373	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		T	52660313	A	T	52660313	3	4	238	1	0	0	0	0	1	0	0	0	18192	72	3	5	2189	5	ZNF836	19	52660313	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10	8888234	52660313	6468670	90	14547											
ZIM2	23619	hgsc.bcm.edu	37	19	57286732	57286732	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr19:57286732C>T	ENST00000391708.3	-	12	1450	c.908G>A	c.(907-909)gGa>gAa	p.G303E	ZIM2_ENST00000601070.1_Missense_Mutation_p.G303E|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.G303E|ZIM2_ENST00000221722.5_Missense_Mutation_p.G303E|ZIM2_ENST00000593711.1_Missense_Mutation_p.G303E|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GGGATCCTTTCCTAGAGGATC	0.453																																																0													119	114	116					19																	57286732		2203	4300	6503	SO:0001583	missense	23619			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.908G>A	chr19.hg19:g.57286732C>T	ENSP00000375589:p.Gly303Glu		Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	hg19	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720643	0.48728	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04317	3.65;3.65	3.89	0.45	0.16624	.	.	.	.	.	T	0.03220	0.0094	N	0.24115	0.695	.	.	.	B	0.21606	0.058	B	0.20184	0.028	T	0.37911	-0.9685	8	0.49607	T	0.09	.	2.8917	0.05678	0.3745:0.3962:0.0:0.2293	.	303	Q9NZV7	ZIM2_HUMAN	E	303	ENSP00000375589:G303E;ENSP00000221722:G303E	ENSP00000221722:G303E	G	-	2	0	ZIM2	61978544	0.000000	0.05858	0.131000	0.22000	0.731000	0.41821	-0.337000	0.07852	0.176000	0.19873	0.655000	0.94253	GGA		0.453	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			T	57286732	C	T	57286732	3	4	238	1	0	0	0	0	1	0	0	0	17689	855	30	2	679	2	ZIM2	19	57286732	Missense_Mutation	SNP	C	TCGA-B1-A656-01A-11D-A31X-10	4626419	57286732	1842251	91	14548											
TIAM1	7074	hgsc.bcm.edu	37	21	32639267	32639267	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chr21:32639267G>A	ENST00000286827.3	-	5	493	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	TIAM1_ENST00000541036.1_Missense_Mutation_p.H8Y|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	8					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGCTCTACATGTTGACTTTCT	0.527																																																0													54	56	55					21																	32639267		2203	4300	6503	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.22C>T	chr21.hg19:g.32639267G>A	ENSP00000286827:p.His8Tyr		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	hg19	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358038	0.41801	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.39056	1.1;1.1	5.08	2.64	0.31445	.	0.211502	0.47852	D	0.000203	T	0.23611	0.0571	N	0.08118	0	0.21147	N	0.999772	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.22521	-1.0214	10	0.87932	D	0	.	11.7355	0.51763	0.0:0.0:0.3141:0.6859	.	8;8;8	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	Y	8	ENSP00000286827:H8Y;ENSP00000441570:H8Y	ENSP00000286827:H8Y	H	-	1	0	TIAM1	31561138	1.000000	0.71417	0.978000	0.43139	0.974000	0.67602	5.772000	0.68889	0.251000	0.21505	0.460000	0.39030	CAT		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		A	32639267	G	A	32639267	3	1	238	1	0	0	0	0	1	0	0	0	15895	1377	48	2	4853	2	TIAM1	21	32639267	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10		32639267	15490628	92	14549											
ASMTL	8623	hgsc.bcm.edu	37	X	1540611	1540611	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chrX:1540611G>C	ENST00000381317.3	-	9	1217	c.1185C>G	c.(1183-1185)atC>atG	p.I395M	ASMTL_ENST00000381333.4_Missense_Mutation_p.I379M|ASMTL_ENST00000416733.2_Missense_Mutation_p.I319M|ASMTL_ENST00000534940.1_Missense_Mutation_p.I337M	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	395	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCCTCTCGGATGGCAAACT	0.537																																																0													267	279	275					X																	1540611		2010	4172	6182	SO:0001583	missense	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1185C>G	chrX.hg19:g.1540611G>C	ENSP00000370718:p.Ile395Met		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	hg19	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	g	11.19	1.566957	0.28003	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	1.58	-3.16	0.05217	O-methyltransferase, family 2 (1);	0.083070	0.47093	U	0.000252	T	0.24275	0.0588	L	0.38175	1.15	0.09310	N	1	D;D;D	0.60575	0.979;0.988;0.979	P;P;P	0.55713	0.782;0.666;0.582	T	0.14643	-1.0465	10	0.87932	D	0	.	5.5218	0.16938	0.2398:0.184:0.5763:0.0	.	319;379;395	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	M	319;337;379;395	ENSP00000410578:I319M;ENSP00000446410:I337M;ENSP00000370734:I379M;ENSP00000370718:I395M	ENSP00000370718:I395M	I	-	3	3	ASMTL	1500611	0.986000	0.35501	0.006000	0.13384	0.132000	0.20833	-0.099000	0.11007	-0.451000	0.07097	0.100000	0.15512	ATC		0.537	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		C	1540611	G	C	1540611	3	2	238	1	0	0	0	0	1	0	0	0	1046	1164	41	4	700	4	ASMTL	23	1540611	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10		1540611	153729949	93	14550											
ACOT9	23597	hgsc.bcm.edu	37	X	23723161	23723161	+	Silent	SNP	G	G	A			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chrX:23723161G>A	ENST00000336430.7	-	13	1160	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	ACOT9_ENST00000379295.1_Silent_p.I283I|ACOT9_ENST00000379303.5_Silent_p.I352I	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	343					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						TCTGAAACATGATGTCATCTA	0.403																																																0													120	109	113					X																	23723161		2203	4300	6503	SO:0001819	synonymous_variant	23597			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.1029C>T	chrX.hg19:g.23723161G>A			B3KNC9|B7ZM94	Silent	SNP	ENST00000336430.7	hg19	CCDS35216.1																																																																																				0.403	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		A	23723161	G	A	23723161	2	1	238	1	0	0	0	0	0	0	0	1	157	1280	45	2		2	ACOT9	23	23723161	Silent	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	22182550	23723161	131547399	94	14551											
AR	367	hgsc.bcm.edu	37	X	66765167	66765167	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chrX:66765167A>T	ENST00000374690.3	+	1	703	c.179A>T	c.(178-180)cAg>cTg	p.Q60L	AR_ENST00000396044.3_Missense_Mutation_p.Q60L|AR_ENST00000504326.1_Missense_Mutation_p.Q60L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	60	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTgcagcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																																							0			GRCh37	CI994028	AR	I							6	9	8					X																	66765167		1971	3901	5872	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.179A>T	chrX.hg19:g.66765167A>T	ENSP00000363822:p.Gln60Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.27	1.588228	0.28357	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.57436	0.4;0.4;0.4	.	.	.	.	1.241110	0.06210	N	0.684797	T	0.29288	0.0729	N	0.19112	0.55	0.09310	N	0.999999	P;P;.	0.36048	0.534;0.534;.	B;B;.	0.29862	0.08;0.108;.	T	0.11494	-1.0585	8	0.12103	T	0.63	.	.	.	.	.	60;60;58	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	60	ENSP00000363822:Q60L;ENSP00000421155:Q60L;ENSP00000379359:Q60L	ENSP00000363822:Q60L	Q	+	2	0	AR	66681892	0.997000	0.39634	0.860000	0.33809	0.513000	0.34164	1.220000	0.32491	0.000000	0.14550	0.000000	0.15137	CAG		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765167	A	T	66765167	3	4	238	1	0	0	0	0	1	0	0	0	836	188	7	5	181	5	AR	23	66765167	Missense_Mutation	SNP	A	TCGA-B1-A656-01A-11D-A31X-10	43042006	66765167	88505393	95	14552											
ZMAT1	84460	hgsc.bcm.edu	37	X	101152941	101152941	+	Silent	SNP	A	A	T			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chrX:101152941A>T	ENST00000372782.3	-	5	452	c.405T>A	c.(403-405)atT>atA	p.I135I	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.I135I	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	135						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GAGACTGAGCAATAAGTGGAG	0.403																																																0													157	124	135					X																	101152941		2203	4300	6503	SO:0001819	synonymous_variant	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.405T>A	chrX.hg19:g.101152941A>T			Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	hg19	CCDS35348.1																																																																																				0.403	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			T	101152941	A	T	101152941	2	4	238	1	0	0	0	0	0	0	0	1	17696	126	5	5		5	ZMAT1	23	101152941	Silent	SNP	A	TCGA-B1-A656-01A-11D-A31X-10	34387774	101152941	54117619	96	14553											
PNCK	139728	hgsc.bcm.edu	37	X	152937048	152937048	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A656-01A-11D-A31X-10	TCGA-B1-A656-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ac9225b-09f2-40d9-8d53-3287fa4779b7	1b3cf7d6-8f3d-472a-958f-0e800ef04ce3	g.chrX:152937048G>C	ENST00000370150.1	-	6	672	c.494C>G	c.(493-495)gCt>gGt	p.A165G	PNCK_ENST00000393831.2_Missense_Mutation_p.A165G|PNCK_ENST00000340888.3_Missense_Mutation_p.A165G|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Missense_Mutation_p.A182G|PNCK_ENST00000447676.2_Missense_Mutation_p.A248G|PNCK_ENST00000370142.1_Missense_Mutation_p.A165G			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGTTCCCAGCCTGGATTTT	0.602																																																0													121	112	115					X																	152937048		2203	4300	6503	SO:0001583	missense	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.494C>G	chrX.hg19:g.152937048G>C	ENSP00000359169:p.Ala165Gly		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	hg19		.	.	.	.	.	.	.	.	.	.	g	7.308	0.614372	0.14129	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	4.91	3.95	0.45737	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.215813	0.29579	N	0.011742	T	0.32734	0.0839	N	0.01789	-0.72	0.28784	N	0.899677	B;B;B;B	0.28350	0.001;0.208;0.026;0.026	B;B;B;B	0.22152	0.01;0.038;0.022;0.022	T	0.31586	-0.9938	10	0.49607	T	0.09	-9.2523	10.6054	0.45392	0.0:0.0:0.689:0.311	.	192;248;182;165	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	G	165;165;165;165;182;248;165;165	ENSP00000340586:A165G;ENSP00000359169:A165G;ENSP00000377417:A165G;ENSP00000359161:A165G;ENSP00000359164:A182G;ENSP00000405950:A248G;ENSP00000415770:A165G;ENSP00000391772:A165G	ENSP00000340586:A165G	A	-	2	0	PNCK	152590242	0.291000	0.24352	0.998000	0.56505	0.864000	0.49448	3.237000	0.51344	2.005000	0.58758	0.529000	0.55759	GCT		0.602	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		C	152937048	G	C	152937048	3	2	238	1	0	0	0	0	1	0	0	0	12147	971	34	4	561	4	PNCK	23	152937048	Missense_Mutation	SNP	G	TCGA-B1-A656-01A-11D-A31X-10	51784107	152937048	2333512	97	14554											
AMY1A	276	hgsc.bcm.edu	37	1	104199090	104199090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:104199090delT	ENST00000370083.4	+	2	358	c.138delT	c.(136-138)tatfs	p.Y46fs		NM_001008221.1|NM_004038.3	NP_001008222.1|NP_004029.2	P04745	AMY1_HUMAN	amylase, alpha 1A (salivary)	46					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)						all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		GTGAGCGATATTTAGCTCCCA	0.413																																					Pancreas(131;743 2392 43382 44986)											0																																										SO:0001589	frameshift_variant	278				CCDS30782.1	1p21	2012-10-02	2007-05-03		ENSG00000237763	ENSG00000237763	3.2.1.1		474	protein-coding gene	gene with protein product		104700	"amylase, alpha 1A; salivary"	AMY1			Standard	XM_005270755		Approved		uc001duv.3	P04745	OTTHUMG00000011020	ENST00000370083.4:c.138delT	chr1.hg19:g.104199090delT	ENSP00000359100:p.Tyr46fs		A6NJS5|A8K8H6|Q13763|Q5T083	Frame_Shift_Del	DEL	ENST00000370083.4	hg19	CCDS30782.1																																																																																				0.413	AMY1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030304.2	NM_001008221		-	104199090	T	-	104199090	7	5	239	1	0	1	0	1	0	0	0	0	591	1500	52	0	140	0	AMY1A	1	104199090	Frame_Shift_Del	DEL	T	TCGA-B1-A657-01A-11D-A31X-10		104199090	145051531	1	14555											
AMY1A	277	hgsc.bcm.edu	37	1	104238120	104238120	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:104238120delC	ENST00000330330.5	-	2	436	c.142delG	c.(142-144)gctfs	p.A48fs	AMY1B_ENST00000370080.3_Frame_Shift_Del_p.A48fs|AMY1B_ENST00000464691.1_5'Flank	NM_001008218.1	NP_001008219.1	P04745	AMY1_HUMAN	amylase, alpha 1B (salivary)	48					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CCCTTGGGAGCTAAATATCGC	0.408																																																0													1	1	1					1																	104238120		4	8	12	SO:0001589	frameshift_variant	278				CCDS30783.1	1p21	2012-10-02	2007-05-03		ENSG00000174876	ENSG00000174876	3.2.1.1		475	protein-coding gene	gene with protein product		104701	"amylase, alpha 1B; salivary"	AMY1			Standard	XM_005270758		Approved			P04745	OTTHUMG00000011021	ENST00000330330.5:c.142delG	chr1.hg19:g.104238120delC	ENSP00000330484:p.Ala48fs		A6NJS5|A8K8H6|Q13763|Q5T083	Frame_Shift_Del	DEL	ENST00000330330.5	hg19	CCDS30783.1																																																																																				0.408	AMY1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030309.1	NM_001008218		-	104238120	C	-	104238120	7	5	239	1	0	1	0	1	0	0	0	0	591	797	28	0	3009	0	AMY1A	1	104238120	Frame_Shift_Del	DEL	C	TCGA-B1-A657-01A-11D-A31X-10	39030	104238120	145012501	2	14556											
AMY1A	278	hgsc.bcm.edu	37	1	104293229	104293229	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:104293229delT	ENST00000370079.3	+	1	202	c.138delT	c.(136-138)tatfs	p.Y46fs		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	46					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		GTGAGCGATATTTAGCTCCCA	0.413																																																0													1	1	1					1																	104293229		232	481	713	SO:0001589	frameshift_variant	278				CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"amylase, alpha 1C; salivary"	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.138delT	chr1.hg19:g.104293229delT	ENSP00000359096:p.Tyr46fs		A6NJS5|A8K8H6|Q13763|Q5T083	Frame_Shift_Del	DEL	ENST00000370079.3	hg19	CCDS30784.1																																																																																				0.413	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030375.1	NM_001008219		-	104293229	T	-	104293229	7	5	239	1	0	1	0	1	0	0	0	0	591	1500	52	0	3292	0	AMY1A	1	104293229	Frame_Shift_Del	DEL	T	TCGA-B1-A657-01A-11D-A31X-10	55109	104293229	144957392	3	14557											
DENND4B	9909	hgsc.bcm.edu	37	1	153916546	153916546	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:153916546A>G	ENST00000361217.4	-	2	723	c.305T>C	c.(304-306)cTc>cCc	p.L102P		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	102	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCTCAACGAGGGGGGGCTT	0.632																																																0													28	32	31					1																	153916546		1905	4105	6010	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.305T>C	chr1.hg19:g.153916546A>G	ENSP00000354597:p.Leu102Pro		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	hg19	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314898	0.81358	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.29655	1.56;1.56	4.7	4.7	0.59300	MABP domain (1);	.	.	.	.	T	0.34164	0.0888	L	0.52126	1.63	0.80722	D	1	D	0.64830	0.994	P	0.59288	0.855	T	0.19451	-1.0305	9	0.87932	D	0	-8.3452	13.2712	0.60161	1.0:0.0:0.0:0.0	.	102	O75064	DEN4B_HUMAN	P	102;113	ENSP00000354597:L102P;ENSP00000357635:L113P	ENSP00000354597:L102P	L	-	2	0	DENND4B	152183170	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.903000	0.92573	1.964000	0.57103	0.379000	0.24179	CTC		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		G	153916546	A	G	153916546	3	3	239	1	0	0	0	0	1	0	0	0	4436	304	11	3	4293	3	DENND4B	1	153916546	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	49623317	153916546	95334075	4	14558											
THBS3	7059	hgsc.bcm.edu	37	1	155175049	155175049	+	Silent	SNP	C	C	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:155175049C>T	ENST00000368378.3	-	3	365	c.345G>A	c.(343-345)gcG>gcA	p.A115A	THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Intron	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	115	Laminin G-like.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.A115A(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGCCAGGCCCGCTTGCTGTA	0.627																																																1	Substitution - coding silent(1)	lung(1)											100	82	88					1																	155175049		2203	4300	6503	SO:0001819	synonymous_variant	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.345G>A	chr1.hg19:g.155175049C>T			B1AVR8|B4DQ20|Q8WV34	Silent	SNP	ENST00000368378.3	hg19	CCDS1099.1																																																																																				0.627	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		T	155175049	C	T	155175049	2	4	239	1	0	0	0	0	0	0	0	1	15860	639	23	1		1	THBS3	1	155175049	Silent	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	1258503	155175049	94075572	5	14559											
C1orf112	55732	hgsc.bcm.edu	37	1	169798424	169798424	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:169798424delT	ENST00000286031.6	+	13	1848	c.1148delT	c.(1147-1149)gttfs	p.V383fs	C1orf112_ENST00000413811.2_Frame_Shift_Del_p.F311fs|C1orf112_ENST00000359326.4_Frame_Shift_Del_p.V383fs|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	383										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCAAAGCCGTTTTCTACAGT	0.368																																																0													133	130	131					1																	169798424		2203	4300	6503	SO:0001589	frameshift_variant	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1148delT	chr1.hg19:g.169798424delT	ENSP00000286031:p.Val383fs		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Frame_Shift_Del	DEL	ENST00000286031.6	hg19	CCDS1285.1																																																																																				0.368	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		-	169798424	T	-	169798424	7	5	239	1	0	1	0	1	0	0	0	0	1987	1725	60	0	1190	0	C1orf112	1	169798424	Frame_Shift_Del	DEL	T	TCGA-B1-A657-01A-11D-A31X-10	14623375	169798424	79452197	6	14560											
C1orf14	81626	hgsc.bcm.edu	37	1	182922005	182922005	+	Silent	SNP	C	C	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:182922005C>G	ENST00000367547.3	-	1	500	c.264G>C	c.(262-264)gcG>gcC	p.A88A	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_5'Flank	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	160										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						GCTCCTccgccgccgccgccg	0.746																																																0													5	6	6					1																	182922005		2140	4210	6350	SO:0001819	synonymous_variant	81626			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.264G>C	chr1.hg19:g.182922005C>G			Q4G195|Q9BZQ3|Q9H2B6	Silent	SNP	ENST00000367547.3	hg19	CCDS30955.1																																																																																				0.746	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		G	182922005	C	G	182922005	2	3	239	1	0	0	0	0	0	0	0	1	2002	639	23	4		4	C1orf14	1	182922005	Silent	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	13123581	182922005	66328616	7	14561											
F13B	2165	hgsc.bcm.edu	37	1	197020002	197020002	+	Silent	SNP	T	T	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:197020002T>C	ENST00000367412.1	-	10	1606	c.1563A>G	c.(1561-1563)aaA>aaG	p.K521K	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	521					blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGCACATTCCTTTAGATTCTG	0.348																																																0													85	85	85					1																	197020002		2203	4300	6503	SO:0001819	synonymous_variant	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1563A>G	chr1.hg19:g.197020002T>C			A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	hg19	CCDS1388.1																																																																																				0.348	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		C	197020002	T	C	197020002	2	2	239	1	0	0	0	0	0	0	0	1	5343	1606	56	3		3	F13B	1	197020002	Silent	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	14097997	197020002	52230619	8	14562											
PPP1R15B	84919	hgsc.bcm.edu	37	1	204379052	204379052	+	Silent	SNP	A	A	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:204379052A>G	ENST00000367188.4	-	1	1867	c.1488T>C	c.(1486-1488)atT>atC	p.I496I	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	496					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CAGCAGTCTGAATTGTTGCTG	0.458																																																0													73	78	76					1																	204379052		2203	4300	6503	SO:0001819	synonymous_variant	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1488T>C	chr1.hg19:g.204379052A>G			Q53GQ4|Q658M2|Q6P156|Q96SN1	Silent	SNP	ENST00000367188.4	hg19	CCDS1445.1																																																																																				0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		G	204379052	A	G	204379052	2	3	239	1	0	0	0	0	0	0	0	1	12369	242	9	3		3	PPP1R15B	1	204379052	Silent	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	7359050	204379052	44871569	9	14563											
PARP1	142	hgsc.bcm.edu	37	1	226570817	226570817	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:226570817T>A	ENST00000366794.5	-	8	1222	c.1079A>T	c.(1078-1080)gAa>gTa	p.E360V		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	360					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGCGCTGGTTTCTGGGGGGAA	0.507								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								0													111	139	129					1																	226570817		2203	4300	6503	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1079A>T	chr1.hg19:g.226570817T>A	ENSP00000355759:p.Glu360Val		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	hg19	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525131	0.27299	.	.	ENSG00000143799	ENST00000366794	T	0.09723	2.95	5.26	5.26	0.73747	.	0.049169	0.85682	D	0.000000	T	0.05731	0.0150	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.38090	-0.9677	10	0.32370	T	0.25	.	9.4103	0.38487	0.0:0.0804:0.0:0.9196	.	360	P09874	PARP1_HUMAN	V	360	ENSP00000355759:E360V	ENSP00000355759:E360V	E	-	2	0	PARP1	224637440	0.994000	0.37717	0.177000	0.23020	0.267000	0.26476	3.623000	0.54224	1.977000	0.57605	0.454000	0.30748	GAA		0.507	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		A	226570817	T	A	226570817	3	1	239	1	0	0	0	0	1	0	0	0	11456	1783	62	5	2029	5	PARP1	1	226570817	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	22191765	226570817	22679804	10	14564											
C1orf96	126731	hgsc.bcm.edu	37	1	229461075	229461076	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:229461075_229461076delAG	ENST00000366687.1	-	3	770_771	c.719_720delCT	c.(718-720)tctfs	p.S240fs	CCSAP_ENST00000483092.1_5'UTR|RP4-803J11.2_ENST00000418348.1_RNA|CCSAP_ENST00000366686.1_Frame_Shift_Del_p.S126fs|CCSAP_ENST00000284617.2_Frame_Shift_Del_p.S240fs			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	240					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											CCACATCCACAGAGTGAGCTCG	0.441																																																0																																										SO:0001589	frameshift_variant	126731			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"centriole and spindle-associated protein"		"chromosome 1 open reading frame 96"	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.719_720delCT	chr1.hg19:g.229461077_229461078delAG	ENSP00000355648:p.Ser240fs		A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Frame_Shift_Del	DEL	ENST00000366687.1	hg19	CCDS1577.1																																																																																				0.441	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091839.1	NM_145257		-	229461076	AG	-	229461075	7	5	239	1	0	1	0	1	0	0	0	0	2075	175	7	0	96	0	C1orf96	1	229461075	Frame_Shift_Del	DEL	AG	TCGA-B1-A657-01A-11D-A31X-10	2890258	229461075	19789546	11	14565											
ARID4B	51742	hgsc.bcm.edu	37	1	235345203	235345203	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:235345203A>T	ENST00000264183.3	-	20	3528	c.3031T>A	c.(3031-3033)Ttt>Att	p.F1011I	ARID4B_ENST00000366603.2_Missense_Mutation_p.F1011I|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.F925I	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1011					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTACTTGGAAATTCTGCTTTT	0.438																																																0													116	121	119					1																	235345203		2203	4300	6503	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3031T>A	chr1.hg19:g.235345203A>T	ENSP00000264183:p.Phe1011Ile		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	hg19	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.17|18.17	3.563590|3.563590	0.65651|0.65651	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	T;T;T|.	0.23552|.	1.9;1.95;1.95|.	5.18|5.18	4.03|4.03	0.46877|0.46877	.|.	0.359358|.	0.32785|.	N|.	0.005655|.	T|T	0.47303|0.47303	0.1438|0.1438	N|N	0.19112|0.19112	0.55|0.55	0.53688|0.53688	D|D	0.999971|0.999971	D;D;D;D|.	0.67145|.	0.996;0.992;0.996;0.987|.	D;D;D;D|.	0.77557|.	0.99;0.974;0.99;0.942|.	T|T	0.33085|0.33085	-0.9882|-0.9882	10|5	0.25751|.	T|.	0.34|.	-11.9576|-11.9576	12.1739|12.1739	0.54173|0.54173	0.8568:0.1432:0.0:0.0|0.8568:0.1432:0.0:0.0	.|.	692;1011;925;1011|.	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39|.	.;.;.;ARI4B_HUMAN|.	I|K	1011;925;1011;1011|410	ENSP00000264184:F925I;ENSP00000355562:F1011I;ENSP00000264183:F1011I|.	ENSP00000264183:F1011I|.	F|N	-|-	1|3	0|2	ARID4B|ARID4B	233411826|233411826	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.991000|0.991000	0.79684|0.79684	5.361000|5.361000	0.66092|0.66092	0.956000|0.956000	0.37904|0.37904	0.477000|0.477000	0.44152|0.44152	TTT|AAT		0.438	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		T	235345203	A	T	235345203	3	4	239	1	0	0	0	0	1	0	0	0	920	101	4	5	927	5	ARID4B	1	235345203	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	5884128	235345203	13905418	12	14566											
FMN2	56776	hgsc.bcm.edu	37	1	240371139	240371139	+	Silent	SNP	C	C	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr1:240371139C>T	ENST00000319653.9	+	5	3257	c.3027C>T	c.(3025-3027)ccC>ccT	p.P1009P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1009	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCTCCTCCCC	0.731																																																0																																										SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3027C>T	chr1.hg19:g.240371139C>T			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	hg19	CCDS31069.2																																																																																				0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240371139	C	T	240371139	2	4	239	1	0	0	0	0	0	0	0	1	5952	610	22	2		2	FMN2	1	240371139	Silent	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	5025936	240371139	8879482	13	14567											
ARID5A	10865	hgsc.bcm.edu	37	2	97215160	97215160	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr2:97215160C>A	ENST00000357485.3	+	3	301	c.223C>A	c.(223-225)Ccc>Acc	p.P75T	ARID5A_ENST00000454558.2_Missense_Mutation_p.P7T	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	75	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCGACACACGCCCATCGAGAG	0.697																																																0													97	90	92					2																	97215160		2203	4300	6503	SO:0001583	missense	10865			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.223C>A	chr2.hg19:g.97215160C>A	ENSP00000350078:p.Pro75Thr		Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	hg19	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586158	0.86851	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T;T	0.64085	-0.08;-0.08	5.07	5.07	0.68467	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.64402	D	0.000002	T	0.77274	0.4106	M	0.75777	2.31	0.51233	D	0.999918	D	0.58970	0.984	D	0.69307	0.963	T	0.79401	-0.1819	10	0.72032	D	0.01	-21.3112	13.8159	0.63292	0.0:1.0:0.0:0.0	.	75	Q03989	ARI5A_HUMAN	T	75;75;7	ENSP00000350078:P75T;ENSP00000400785:P7T	ENSP00000350078:P75T	P	+	1	0	ARID5A	96578887	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.160000	0.58164	2.653000	0.90120	0.561000	0.74099	CCC		0.697	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		A	97215160	C	A	97215160	3	1	239	1	0	0	0	0	1	0	0	0	921	739	26	4	233	4	ARID5A	2	97215160	Missense_Mutation	SNP	C	TCGA-B1-A657-01A-11D-A31X-10		97215160	145984213	14	14568											
TTN	7273	hgsc.bcm.edu	37	2	179431535	179431535	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr2:179431535T>C	ENST00000591111.1	-	276	74625	c.74401A>G	c.(74401-74403)Aca>Gca	p.T24801A	TTN_ENST00000342992.6_Missense_Mutation_p.T23874A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T17569A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T26442A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T17502A|TTN_ENST00000460472.2_Missense_Mutation_p.T17377A|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24801	Fibronectin type-III 80. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCAAATCTGTAATGCGGCGT	0.428																																																0													71	70	70					2																	179431535		1854	4108	5962	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74401A>G	chr2.hg19:g.179431535T>C	ENSP00000465570:p.Thr24801Ala		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	T	12.10	1.835271	0.32421	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.75	4.57	0.56435	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56543	0.1992	L	0.41415	1.275	0.58432	D	0.999992	D;D;D;D	0.56746	0.977;0.977;0.977;0.958	P;P;P;P	0.49192	0.602;0.602;0.602;0.506	T	0.60073	-0.7334	9	0.87932	D	0	.	13.2067	0.59800	0.0:0.0:0.1326:0.8674	.	17377;17502;17569;24801	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	23874;17377;17569;17502;17375	ENSP00000343764:T23874A;ENSP00000434586:T17377A;ENSP00000340554:T17569A;ENSP00000352154:T17502A	ENSP00000340554:T17569A	T	-	1	0	TTN	179139781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	0.965000	0.38133	0.459000	0.35465	ACA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179431535	T	C	179431535	3	2	239	1	0	0	0	0	1	0	0	0	16740	1638	57	3	28803	3	TTN	2	179431535	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	82216375	179431535	63767838	15	14569											
PPARG	5468	hgsc.bcm.edu	37	3	12447397	12447397	+	Silent	SNP	G	G	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr3:12447397G>C	ENST00000287820.6	+	5	757	c.636G>C	c.(634-636)cgG>cgC	p.R212R	PPARG_ENST00000309576.6_Silent_p.R184R|PPARG_ENST00000397015.2_Silent_p.R184R|PPARG_ENST00000539812.1_Silent_p.R182R|PPARG_ENST00000397026.2_Silent_p.R190R|PPARG_ENST00000397012.2_Silent_p.R184R|PPARG_ENST00000397000.1_Silent_p.R184R|PPARG_ENST00000397010.2_Silent_p.R184R	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	212	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	GGTTTGGGCGGATGCCACAGG	0.542			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																																Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	0													66	65	65					3																	12447397		2203	4300	6503	SO:0001819	synonymous_variant	5468			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.636G>C	chr3.hg19:g.12447397G>C			A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	ENST00000287820.6	hg19	CCDS2609.1																																																																																				0.542	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		C	12447397	G	C	12447397	2	2	239	1	0	0	0	0	0	0	0	1	12301	1161	41	4		4	PPARG	3	12447397	Silent	SNP	G	TCGA-B1-A657-01A-11D-A31X-10		12447397	185575033	16	14570											
DLEC1	9940	hgsc.bcm.edu	37	3	38101279	38101280	+	In_Frame_Ins	INS	-	-	CAT			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr3:38101279_38101280insCAT	ENST00000308059.6	+	3	630_631	c.609_610insCAT	c.(610-612)cat>CATcat	p.204_204H>HH	DLEC1_ENST00000452631.2_In_Frame_Ins_p.204_204H>HH|DLEC1_ENST00000346219.3_In_Frame_Ins_p.204_204H>HH					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGCTACGGAAACATCATTTGAT	0.465																																																0																																										SO:0001652	inframe_insertion	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.613_615dupCAT	chr3.hg19:g.38101283_38101285dupCAT	ENSP00000308597:p.His205dup			In_Frame_Ins	INS	ENST00000308059.6	hg19	CCDS2672.2																																																																																				0.465	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		CAT	38101280	-	CAT	38101279	7	5	239	1	0	1	1	0	0	0	0	0	4554	40	2	0	619	0	DLEC1	3	38101279	In_Frame_Ins	INS	-	TCGA-B1-A657-01A-11D-A31X-10	25653882	38101279	159921151	17	14571											
LIMD1	8994	hgsc.bcm.edu	37	3	45714309	45714327	+	Splice_Site	DEL	ACAAGTAAGAAGGGATGGG	ACAAGTAAGAAGGGATGGG	-			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	ACAAGTAAGAAGGGATGGG	ACAAGTAAGAAGGGATGGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr3:45714309_45714327delACAAGTAAGAAGGGATGGG	ENST00000273317.4	+	5	1790_1793	c.1769_1772delACAAGTAAGAAGGGATGGG	c.(1768-1773)cacaag>cg	p.HK590fs	LIMD1_ENST00000465039.1_3'UTR|LIMD1_ENST00000440097.1_Splice_Site_p.HK590fs	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	590	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Necessary for nuclear localization.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CGAGATTACCACAAGTAAGAAGGGATGGGAGCAGACAGG	0.53																																																0																																										SO:0001630	splice_region_variant	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1772+1ACAAGTAAGAAGGGATGGG>-	chr3.hg19:g.45714309_45714327delACAAGTAAGAAGGGATGGG			Q17RQ1|Q9BQQ9|Q9NQ47	Frame_Shift_Del	DEL	ENST00000273317.4	hg19	CCDS2729.1																																																																																				0.53	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240	Frame_Shift_Del	-	45714327	ACAAGTAAGAAGGGATGGG	-	45714309	8	5	239	1	0	1	0	1	0	0	1	0	8800	159	6	0	1787	0	LIMD1	3	45714309	Splice_Site	DEL	ACAAGTAAGAAGGGATGGG	TCGA-B1-A657-01A-11D-A31X-10	7613030	45714309	152308121	18	14572											
DAG1	1605	hgsc.bcm.edu	37	3	49547996	49547996	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr3:49547996T>C	ENST00000539901.1	+	2	587	c.29T>C	c.(28-30)cTg>cCg	p.L10P	DAG1_ENST00000515359.2_Missense_Mutation_p.L10P|DAG1_ENST00000538711.1_Missense_Mutation_p.L10P|DAG1_ENST00000479935.1_3'UTR|DAG1_ENST00000541308.1_Missense_Mutation_p.L10P|DAG1_ENST00000545947.1_Missense_Mutation_p.L10P|DAG1_ENST00000308775.2_Missense_Mutation_p.L10P	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	10					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTCTCGCTGCTGCTGCCCCTC	0.577																																																0													85	84	84					3																	49547996		2203	4300	6503	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.29T>C	chr3.hg19:g.49547996T>C	ENSP00000439334:p.Leu10Pro		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	hg19	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	T	8.905	0.957260	0.18507	.	.	ENSG00000173402	ENST00000515359;ENST00000421560;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000418588;ENST00000431960;ENST00000452317;ENST00000435508;ENST00000452060;ENST00000428779;ENST00000419218	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60797	0.78;0.77;0.78;0.78;0.78;0.78;0.78;0.75;0.76;0.16;0.64;0.74;0.76	5.85	4.7	0.59300	.	0.080454	0.51477	N	0.000097	T	0.42086	0.1187	L	0.29908	0.895	0.53688	D	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	10	0.52906	T	0.07	-6.6126	6.3137	0.21178	0.1406:0.0754:0.0:0.784	.	10	Q14118	DAG1_HUMAN	P	10	ENSP00000440705:L10P;ENSP00000412067:L10P;ENSP00000312435:L10P;ENSP00000442600:L10P;ENSP00000440590:L10P;ENSP00000439334:L10P;ENSP00000438421:L10P;ENSP00000405859:L10P;ENSP00000388833:L10P;ENSP00000387859:L10P;ENSP00000415321:L10P;ENSP00000410145:L10P;ENSP00000401382:L10P	ENSP00000312435:L10P	L	+	2	0	DAG1	49523000	0.990000	0.36364	1.000000	0.80357	0.095000	0.18619	1.145000	0.31577	1.044000	0.40200	0.455000	0.32223	CTG		0.577	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			C	49547996	T	C	49547996	3	2	239	1	0	0	0	0	1	0	0	0	4227	1580	55	3	31	3	DAG1	3	49547996	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	3833687	49547996	148474434	19	14573											
MBNL1	4154	hgsc.bcm.edu	37	3	152163262	152163262	+	Silent	SNP	C	C	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr3:152163262C>T	ENST00000463374.1	+	4	1252	c.741C>T	c.(739-741)atC>atT	p.I247I	MBNL1_ENST00000357472.3_Silent_p.I247I|MBNL1_ENST00000324196.5_Silent_p.I247I|MBNL1_ENST00000492948.1_Silent_p.I247I|MBNL1_ENST00000485910.1_Silent_p.I179I|MBNL1_ENST00000355460.2_Silent_p.I247I|MBNL1_ENST00000498502.1_Silent_p.I247I|MBNL1_ENST00000282486.6_Silent_p.I247I|MBNL1_ENST00000545754.1_Silent_p.I179I|MBNL1_ENST00000324210.5_Silent_p.I247I|MBNL1_ENST00000485509.1_Silent_p.I247I|MBNL1_ENST00000282488.7_Silent_p.I179I|MBNL1_ENST00000493459.1_Silent_p.I190I	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	247					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAGCCAAGATCAAGGCTGCCC	0.507																																																0													101	100	101					3																	152163262		2203	4300	6503	SO:0001819	synonymous_variant	4154			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.741C>T	chr3.hg19:g.152163262C>T			E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Silent	SNP	ENST00000463374.1	hg19	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	C	9.846	1.192282	0.21954	.	.	ENSG00000152601	ENST00000464596	.	.	.	5.42	4.54	0.55810	.	.	.	.	.	T	0.69762	0.3147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68727	-0.5332	4	.	.	.	-15.5766	13.8836	0.63696	0.0:0.927:0.0:0.073	.	.	.	.	L	246	.	.	S	+	2	0	MBNL1	153645952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.700000	0.37815	1.284000	0.44531	0.655000	0.94253	TCA		0.507	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		T	152163262	C	T	152163262	2	4	239	1	0	0	0	0	0	0	0	1	9355	816	29	2		2	MBNL1	3	152163262	Silent	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	102615266	152163262	45859168	20	14574											
USP13	8975	hgsc.bcm.edu	37	3	179462840	179462840	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr3:179462840T>A	ENST00000263966.3	+	13	2015	c.1544T>A	c.(1543-1545)aTc>aAc	p.I515N	USP13_ENST00000496897.1_Missense_Mutation_p.I450N|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	515	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GATGAACTGATCGCTTATGAA	0.478																																																0													120	113	115					3																	179462840		2203	4300	6503	SO:0001583	missense	8975			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1544T>A	chr3.hg19:g.179462840T>A	ENSP00000263966:p.Ile515Asn		A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	hg19	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576799	0.28092	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T	0.13778	2.56;2.57	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.145148	0.48286	D	0.000197	T	0.14056	0.0340	N	0.26042	0.785	0.58432	D	0.999993	P;B	0.38335	0.627;0.244	P;B	0.44422	0.449;0.281	T	0.16247	-1.0409	10	0.17832	T	0.49	-17.5512	15.1067	0.72326	0.0:0.0:0.0:1.0	.	515;515	Q92995;A8K2S3	UBP13_HUMAN;.	N	515;450;161	ENSP00000263966:I515N;ENSP00000417146:I450N	ENSP00000263966:I515N	I	+	2	0	USP13	180945534	1.000000	0.71417	0.955000	0.39395	0.938000	0.57974	6.035000	0.70940	1.966000	0.57179	0.533000	0.62120	ATC		0.478	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			A	179462840	T	A	179462840	3	1	239	1	0	0	0	0	1	0	0	0	17049	1435	50	5	1594	5	USP13	3	179462840	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	27299578	179462840	18559590	21	14575											
DLG1	1739	hgsc.bcm.edu	37	3	196888577	196888577	+	Silent	SNP	A	A	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr3:196888577A>T	ENST00000419354.1	-	6	802	c.516T>A	c.(514-516)acT>acA	p.T172T	DLG1_ENST00000346964.2_Silent_p.T172T|DLG1_ENST00000452595.1_Intron|DLG1_ENST00000422288.1_Intron|DLG1_ENST00000448528.2_Silent_p.T172T|DLG1_ENST00000450955.1_Intron|DLG1_ENST00000357674.4_Intron|DLG1_ENST00000392382.2_Intron|DLG1_ENST00000314062.3_Intron|DLG1_ENST00000443183.1_Intron			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	172	Interaction with SH3 domains.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCACAGGGACAGTGGGAGGAG	0.388																																																0													71	75	74					3																	196888577		2203	4300	6503	SO:0001819	synonymous_variant	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.516T>A	chr3.hg19:g.196888577A>T			A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Silent	SNP	ENST00000419354.1	hg19	CCDS43194.1																																																																																				0.388	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		T	196888577	A	T	196888577	2	4	239	1	0	0	0	0	0	0	0	1	4556	175	7	5		5	DLG1	3	196888577	Silent	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	17425737	196888577	1133853	22	14576											
CLNK	116449	hgsc.bcm.edu	37	4	10522421	10522421	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr4:10522421T>G	ENST00000226951.6	-	15	1005	c.766A>C	c.(766-768)Aac>Cac	p.N256H		NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	256					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TTACCTCTGTTTTGCACACTG	0.373																																					GBM(87;402 1286 6949 13902 35851)											0													140	125	129					4																	10522421		1858	4107	5965	SO:0001583	missense	116449			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.766A>C	chr4.hg19:g.10522421T>G	ENSP00000226951:p.Asn256His		Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	hg19	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	T	8.569	0.879522	0.17467	.	.	ENSG00000109684	ENST00000226951;ENST00000429087	T	0.23552	1.9	3.58	2.44	0.29823	.	1.529250	0.03878	N	0.276734	T	0.19565	0.0470	N	0.24115	0.695	0.34150	D	0.667466	B	0.26876	0.162	B	0.30855	0.121	T	0.34179	-0.9839	10	0.46703	T	0.11	-4.8736	3.7403	0.08527	0.0:0.2405:0.0:0.7595	.	256	Q7Z7G1	CLNK_HUMAN	H	256;220	ENSP00000226951:N256H	ENSP00000226951:N256H	N	-	1	0	CLNK	10131519	0.030000	0.19436	0.584000	0.28653	0.521000	0.34408	0.593000	0.23999	0.761000	0.33130	0.379000	0.24179	AAC		0.373	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		G	10522421	T	G	10522421	3	3	239	1	0	0	0	0	1	0	0	0	3549	1841	64	5	540	5	CLNK	4	10522421	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10		10522421	180631855	23	14577											
USP46	64854	hgsc.bcm.edu	37	4	53492228	53492228	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr4:53492228T>C	ENST00000441222.3	-	4	702	c.518A>G	c.(517-519)cAg>cGg	p.Q173R	USP46_ENST00000508499.1_Missense_Mutation_p.Q166R|USP46_ENST00000451218.2_Missense_Mutation_p.Q146R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	173	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AAGCGTTCCCTGAAAAATCTC	0.383																																																0													123	117	119					4																	53492228		1869	4137	6006	SO:0001583	missense	64854			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.518A>G	chr4.hg19:g.53492228T>C	ENSP00000407818:p.Gln173Arg		B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	hg19	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958840	0.53400	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.31247	1.5;1.5;1.5	5.08	5.08	0.68730	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000018	T	0.33818	0.0876	M	0.67953	2.075	0.80722	D	1	B;B;B;B	0.18610	0.02;0.011;0.029;0.01	B;B;B;B	0.29077	0.059;0.059;0.098;0.025	T	0.13872	-1.0493	10	0.12430	T	0.62	-17.1457	14.345	0.66654	0.0:0.0:0.0:1.0	.	57;161;173;166	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	R	173;146;166	ENSP00000407818:Q173R;ENSP00000390102:Q146R;ENSP00000423244:Q166R	ENSP00000407818:Q173R	Q	-	2	0	USP46	53186985	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	6.263000	0.72521	2.046000	0.60703	0.528000	0.53228	CAG		0.383	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		C	53492228	T	C	53492228	3	2	239	1	0	0	0	0	1	0	0	0	17082	1580	55	3	606	3	USP46	4	53492228	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	42969807	53492228	137662048	24	14578											
EXOC1	55763	hgsc.bcm.edu	37	4	56759888	56759888	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr4:56759888T>C	ENST00000381295.2	+	15	2243	c.1895T>C	c.(1894-1896)cTa>cCa	p.L632P	EXOC1_ENST00000349598.6_Missense_Mutation_p.L617P|EXOC1_ENST00000346134.7_Missense_Mutation_p.L632P	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	632					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GCTTCTTTCCTAAGTACTACA	0.343																																																0													95	89	91					4																	56759888		2203	4300	6503	SO:0001583	missense	55763			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1895T>C	chr4.hg19:g.56759888T>C	ENSP00000370695:p.Leu632Pro		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	hg19	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097917	0.76870	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.952;0.997	T	0.83349	-0.0004	9	0.87932	D	0	.	16.0821	0.81012	0.0:0.0:0.0:1.0	.	617;632	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	P	632;632;617	.	ENSP00000326514:L632P	L	+	2	0	EXOC1	56454645	1.000000	0.71417	0.150000	0.22450	0.970000	0.65996	7.698000	0.84413	2.200000	0.70718	0.460000	0.39030	CTA		0.343	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		C	56759888	T	C	56759888	3	2	239	1	0	0	0	0	1	0	0	0	5303	1522	53	3	1949	3	EXOC1	4	56759888	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	3267660	56759888	134394388	25	14579											
CDKL2	8999	hgsc.bcm.edu	37	4	76521462	76521462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr4:76521462G>T	ENST00000429927.2	-	10	2088	c.1385C>A	c.(1384-1386)tCa>tAa	p.S462*	CDKL2_ENST00000307465.4_Nonsense_Mutation_p.S462*	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	462					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATAAATGCCTGATGGGGAATG	0.328																																																0													175	163	167					4																	76521462		2203	4300	6503	SO:0001587	stop_gained	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1385C>A	chr4.hg19:g.76521462G>T	ENSP00000412365:p.Ser462*		B2R695	Nonsense_Mutation	SNP	ENST00000429927.2	hg19	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	G	42	9.585214	0.99211	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.3084	11.0954	0.48141	0.0:0.0:0.8156:0.1844	.	.	.	.	X	462	.	ENSP00000306340:S462X	S	-	2	0	CDKL2	76740486	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	2.209000	0.42806	2.738000	0.93877	0.655000	0.94253	TCA		0.328	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		T	76521462	G	T	76521462	4	4	239	1	0	0	0	0	0	1	0	0	3156	1294	45	4	104	4	CDKL2	4	76521462	Nonsense_Mutation	SNP	G	TCGA-B1-A657-01A-11D-A31X-10	19761574	76521462	114632814	26	14580											
ANTXR2	118429	hgsc.bcm.edu	37	4	80976344	80976344	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr4:80976344delC	ENST00000307333.7	-	6	517	c.515delG	c.(514-516)agtfs	p.S172fs	ANTXR2_ENST00000295465.4_Frame_Shift_Del_p.S172fs|ANTXR2_ENST00000403729.2_Frame_Shift_Del_p.S172fs|ANTXR2_ENST00000346652.6_Frame_Shift_Del_p.S172fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.S95fs	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	172	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						ACAATAAACACTAGCCCCAAG	0.383									Juvenile Hyaline Fibromatosis																																							0													75	67	69					4																	80976344		1845	4088	5933	SO:0001589	frameshift_variant	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.515delG	chr4.hg19:g.80976344delC	ENSP00000306185:p.Ser172fs		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Frame_Shift_Del	DEL	ENST00000307333.7	hg19	CCDS47086.1																																																																																				0.383	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		-	80976344	C	-	80976344	7	5	239	1	0	1	0	1	0	0	0	0	712	565	20	0	1041	0	ANTXR2	4	80976344	Frame_Shift_Del	DEL	C	TCGA-B1-A657-01A-11D-A31X-10	4454882	80976344	110177932	27	14581											
ZNF474	133923	hgsc.bcm.edu	37	5	121487756	121487756	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr5:121487756C>A	ENST00000296600.4	+	2	454	c.71C>A	c.(70-72)aCt>aAt	p.T24N	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	24							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AAAGAACCCACTTTCCTTATC	0.378																																																0													84	89	88					5																	121487756		2203	4300	6503	SO:0001583	missense	133923			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"Zinc fingers, C2H2-type"	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.71C>A	chr5.hg19:g.121487756C>A	ENSP00000296600:p.Thr24Asn		A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	hg19	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091741	0.36952	.	.	ENSG00000164185	ENST00000296600;ENST00000504912;ENST00000505843	T	0.52526	0.66	5.05	5.05	0.67936	.	0.714933	0.11261	U	0.582526	T	0.47985	0.1475	L	0.32530	0.975	0.30368	N	0.783168	D	0.54601	0.967	P	0.52823	0.71	T	0.35051	-0.9804	10	0.31617	T	0.26	-19.2224	10.871	0.46883	0.0:0.9131:0.0:0.0869	.	24	Q6S9Z5	ZN474_HUMAN	N	24	ENSP00000296600:T24N	ENSP00000296600:T24N	T	+	2	0	ZNF474	121515655	0.887000	0.30362	1.000000	0.80357	0.931000	0.56810	1.121000	0.31283	2.624000	0.88883	0.655000	0.94253	ACT		0.378	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		A	121487756	C	A	121487756	3	1	239	1	0	0	0	0	1	0	0	0	17937	565	20	4	73	4	ZNF474	5	121487756	Missense_Mutation	SNP	C	TCGA-B1-A657-01A-11D-A31X-10		121487756	59427504	28	14582											
NKX2-5	1482	hgsc.bcm.edu	37	5	172660100	172660100	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr5:172660100C>A	ENST00000329198.4	-	2	720	c.447G>T	c.(445-447)caG>caT	p.Q149H	NKX2-5_ENST00000521848.1_3'UTR|NKX2-5_ENST00000424406.2_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	149					adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCTCATAGACCTGCGCCTGCG	0.687																																					Esophageal Squamous(72;810 1219 2387 13420 44943)											0													14	12	13					5																	172660100		2202	4297	6499	SO:0001583	missense	1482			AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"Homeoboxes / ANTP class : NKL subclass"	2488	protein-coding gene	gene with protein product	"tinman paralog (Drosophila)"	600584	"cardiac-specific homeo box", "NK2 transcription factor related, locus 5 (Drosophila)"	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.447G>T	chr5.hg19:g.172660100C>A	ENSP00000327758:p.Gln149His		A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	hg19	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825180	0.71143	.	.	ENSG00000183072	ENST00000329198	D	0.98044	-4.68	4.21	0.675	0.17952	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.49916	D	0.000124	D	0.98950	0.9643	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98290	1.0513	10	0.87932	D	0	.	9.3001	0.37840	0.0:0.6233:0.0:0.3767	.	149	P52952	NKX25_HUMAN	H	149	ENSP00000327758:Q149H	ENSP00000327758:Q149H	Q	-	3	2	NKX2-5	172592706	0.997000	0.39634	0.999000	0.59377	0.962000	0.63368	0.536000	0.23129	0.002000	0.14630	0.462000	0.41574	CAG		0.687	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			A	172660100	C	A	172660100	3	1	239	1	0	0	0	0	1	0	0	0	10455	680	24	4	531	4	NKX2-5	5	172660100	Missense_Mutation	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	51172344	172660100	8255160	29	14583											
FGFR4	2264	hgsc.bcm.edu	37	5	176520385	176520385	+	Intron	SNP	A	A	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr5:176520385A>G	ENST00000292408.4	+	10	1496				FGFR4_ENST00000393637.1_Silent_p.R370R|FGFR4_ENST00000292410.3_Silent_p.R370R|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000502906.1_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4						alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CAGCAGGCAGAACCAAGTCTC	0.642										TSP Lung(9;0.080)																																						0													77	80	79					5																	176520385		2203	4300	6503	SO:0001627	intron_variant	2264			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1252-22A>G	chr5.hg19:g.176520385A>G			G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	hg19	CCDS4410.1																																																																																				0.642	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			G	176520385	A	G	176520385	1	3	239	0	1	0	0	0	0	0	0	0	5870	243	9	3		3	FGFR4	5	176520385	Intron	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	3860285	176520385	4394875	30	14584											
DNAH8	1769	hgsc.bcm.edu	37	6	38863980	38863980	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr6:38863980A>C	ENST00000359357.3	+	58	8522	c.8268A>C	c.(8266-8268)gaA>gaC	p.E2756D	DNAH8_ENST00000449981.2_Missense_Mutation_p.E2973D|DNAH8_ENST00000441566.1_Missense_Mutation_p.E2720D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2756					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGTGTTTGAAGTACCCAAAA	0.408																																																0													111	103	105					6																	38863980		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8268A>C	chr6.hg19:g.38863980A>C	ENSP00000352312:p.Glu2756Asp		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	A	11.73	1.726071	0.30593	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.29142	1.58;1.75;1.75;1.72	5.36	4.19	0.49359	.	0.050135	0.85682	D	0.000000	T	0.09730	0.0239	L	0.41710	1.295	0.53688	D	0.99997	B	0.11235	0.004	B	0.15052	0.012	T	0.07849	-1.0751	10	0.34782	T	0.22	.	4.8304	0.13437	0.7142:0.0:0.1479:0.1378	.	2756	Q96JB1	DYH8_HUMAN	D	2961;2961;2756;2720	ENSP00000415331:E2961D;ENSP00000333363:E2961D;ENSP00000352312:E2756D;ENSP00000402294:E2720D	ENSP00000333363:E2961D	E	+	3	2	DNAH8	38971958	0.986000	0.35501	0.985000	0.45067	0.950000	0.60333	0.446000	0.21694	0.975000	0.38392	0.482000	0.46254	GAA		0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38863980	A	C	38863980	3	2	239	1	0	0	0	0	1	0	0	0	4609	69	3	5	8490	5	DNAH8	6	38863980	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10		38863980	132251087	31	14585											
GCLC	2729	hgsc.bcm.edu	37	6	53380907	53380907	+	Splice_Site	SNP	C	C	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr6:53380907C>T	ENST00000229416.6	-	4	1043	c.560G>A	c.(559-561)aGt>aAt	p.S187N	GCLC_ENST00000514004.1_Splice_Site_p.S187N	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	187					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	CCATACTCACCTGAAGCGAGG	0.468																																																0													125	118	120					6																	53380907		2203	4300	6503	SO:0001630	splice_region_variant	2729			M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.560+1G>A	chr6.hg19:g.53380907C>T			Q14399	Missense_Mutation	SNP	ENST00000229416.6	hg19	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532099	0.85812	.	.	ENSG00000001084	ENST00000229416;ENST00000514004;ENST00000514933	T;T;T	0.54479	0.57;0.57;0.57	5.26	5.26	0.73747	.	0.072360	0.85682	D	0.000000	T	0.43322	0.1242	M	0.68593	2.085	0.80722	D	1	P	0.45531	0.86	B	0.39503	0.301	T	0.47983	-0.9074	9	.	.	.	-14.2666	19.2221	0.93801	0.0:1.0:0.0:0.0	.	187	P48506	GSH1_HUMAN	N	187;187;134	ENSP00000229416:S187N;ENSP00000421908:S187N;ENSP00000423615:S134N	.	S	-	2	0	GCLC	53488866	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.622000	0.88805	0.561000	0.74099	AGT		0.468	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2		Missense_Mutation	T	53380907	C	T	53380907	5	4	239	1	0	0	0	0	0	0	1	0	6297	695	24	2	1405	2	GCLC	6	53380907	Splice_Site	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	14516927	53380907	117734160	32	14586	115	2									
GCLC	2729	hgsc.bcm.edu	37	6	53380911	53380911	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr6:53380911A>G	ENST00000229416.6	-	4	1039	c.556T>C	c.(556-558)Ttc>Ctc	p.F186L	GCLC_ENST00000514004.1_Missense_Mutation_p.F186L	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	186					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	ACTCACCTGAAGCGAGGGTGC	0.473																																																0													125	118	121					6																	53380911		2203	4300	6503	SO:0001583	missense	2729			M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.556T>C	chr6.hg19:g.53380911A>G	ENSP00000229416:p.Phe186Leu		Q14399	Missense_Mutation	SNP	ENST00000229416.6	hg19	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	A	34	5.408603	0.96051	.	.	ENSG00000001084	ENST00000229416;ENST00000514004;ENST00000514933	T;T;T	0.76578	-1.03;0.25;-1.03	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	H	0.96080	3.765	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93595	0.6925	10	0.87932	D	0	.	15.6543	0.77121	1.0:0.0:0.0:0.0	.	186	P48506	GSH1_HUMAN	L	186;186;133	ENSP00000229416:F186L;ENSP00000421908:F186L;ENSP00000423615:F133L	ENSP00000229416:F186L	F	-	1	0	GCLC	53488870	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.164000	0.68074	0.459000	0.35465	TTC		0.473	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			G	53380911	A	G	53380911	3	3	239	1	0	0	0	0	1	0	0	0	6297	72	3	3	1409	3	GCLC	6	53380911	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	4	53380911	117734156	33	14587	115	2									
FAM135A	57579	hgsc.bcm.edu	37	6	71236101	71236101	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr6:71236101A>G	ENST00000418814.2	+	15	3928	c.3314A>G	c.(3313-3315)tAt>tGt	p.Y1105C	FAM135A_ENST00000361499.3_Missense_Mutation_p.Y909C|FAM135A_ENST00000505769.1_Missense_Mutation_p.Y685C|FAM135A_ENST00000457062.2_Missense_Mutation_p.Y892C|FAM135A_ENST00000505868.1_Missense_Mutation_p.Y1105C|FAM135A_ENST00000370479.3_Missense_Mutation_p.Y892C	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1105										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GAAACAGATTATTCAGCTTTG	0.348																																																0													84	91	88					6																	71236101		2203	4300	6503	SO:0001583	missense	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3314A>G	chr6.hg19:g.71236101A>G	ENSP00000410768:p.Tyr1105Cys		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	hg19	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	3.081	-0.188920	0.06299	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.23552	2.22;2.22;1.9;2.22;2.22;2.2	5.9	2.09	0.27110	.	0.582275	0.19653	N	0.109143	T	0.06050	0.0157	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.35773	-0.9775	10	0.38643	T	0.18	.	3.5522	0.07851	0.6563:0.1354:0.0711:0.1372	.	1105;1105;909;892	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	C	1105;892;685;892;909;1105	ENSP00000410768:Y1105C;ENSP00000359510:Y892C;ENSP00000423785:Y685C;ENSP00000409201:Y892C;ENSP00000354913:Y909C;ENSP00000423307:Y1105C	ENSP00000354913:Y909C	Y	+	2	0	FAM135A	71292822	0.798000	0.28890	0.004000	0.12327	0.251000	0.25915	1.664000	0.37439	0.115000	0.18071	0.533000	0.62120	TAT		0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		G	71236101	A	G	71236101	3	3	239	1	0	0	0	0	1	0	0	0	5450	449	16	3	3442	3	FAM135A	6	71236101	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	17855190	71236101	99878966	34	14588											
FAM20C	56975	hgsc.bcm.edu	37	7	193541	193541	+	Silent	SNP	C	C	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr7:193541C>T	ENST00000313766.5	+	1	573	c.342C>T	c.(340-342)gcC>gcT	p.A114A	AC093627.12_ENST00000467050.1_RNA	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	114					dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		CGCCCGCGGCCGAGCCGGCCG	0.741																																																0													1	1	1					7																	193541		632	1547	2179	SO:0001819	synonymous_variant	56975			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"dentin matrix protein 4"	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.342C>T	chr7.hg19:g.193541C>T			A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Silent	SNP	ENST00000313766.5	hg19	CCDS47522.1																																																																																				0.741	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322476.2	NM_020223		T	193541	C	T	193541	2	4	239	1	0	0	0	0	0	0	0	1	5541	639	23	1		1	FAM20C	7	193541	Silent	SNP	C	TCGA-B1-A657-01A-11D-A31X-10		193541	158945122	35	14589			1	23		2	2	21	N	T_C	5.232973e-05
FAM20C	56975	hgsc.bcm.edu	37	7	193561	193561	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr7:193561T>A	ENST00000313766.5	+	1	593	c.362T>A	c.(361-363)tTg>tAg	p.L121*	AC093627.12_ENST00000467050.1_RNA	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	121					dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		GAGCGCGCCTTGCGGGGGCGG	0.766																																																0													1	1	1					7																	193561		742	1670	2412	SO:0001587	stop_gained	56975			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"dentin matrix protein 4"	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.362T>A	chr7.hg19:g.193561T>A	ENSP00000322323:p.Leu121*		A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Nonsense_Mutation	SNP	ENST00000313766.5	hg19	CCDS47522.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498085	0.85069	.	.	ENSG00000177706	ENST00000313766	.	.	.	4.45	-5.01	0.02991	.	3.462960	0.02171	U	0.059669	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	5.991	0.19460	0.0:0.2449:0.3819:0.3732	.	.	.	.	X	121	.	ENSP00000322323:L121X	L	+	2	0	FAM20C	288644	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.083000	0.11286	-0.496000	0.06650	0.459000	0.35465	TTG		0.766	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322476.2	NM_020223		A	193561	T	A	193561	4	1	239	1	0	0	0	0	0	1	0	0	5541	1821	63	5	364	5	FAM20C	7	193561	Nonsense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	20	193561	158945102	36	14590			1	23		2	2	21	N	T_C	5.232973e-05
THSD7A	221981	hgsc.bcm.edu	37	7	11582721	11582721	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr7:11582721A>C	ENST00000423059.4	-	5	1728	c.1477T>G	c.(1477-1479)Tta>Gta	p.L493V		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	493	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCAGTGCATAATTTTAAGTCC	0.383										HNSCC(18;0.044)																																						0													127	122	124					7																	11582721		1872	4098	5970	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1477T>G	chr7.hg19:g.11582721A>C	ENSP00000406482:p.Leu493Val			Missense_Mutation	SNP	ENST00000423059.4	hg19	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.921725	0.52653	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60920	0.15	5.78	4.61	0.57282	.	0.197404	0.43110	D	0.000620	T	0.64735	0.2625	M	0.76574	2.34	0.45307	D	0.998302	P	0.45594	0.862	P	0.52109	0.69	T	0.61613	-0.7027	10	0.21540	T	0.41	.	10.5833	0.45267	0.8816:0.0:0.1184:0.0	.	493	Q9UPZ6	THS7A_HUMAN	V	493	ENSP00000406482:L493V	ENSP00000262042:L493V	L	-	1	2	THSD7A	11549246	0.998000	0.40836	0.998000	0.56505	0.944000	0.59088	3.710000	0.54860	2.333000	0.79357	0.482000	0.46254	TTA		0.383	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		C	11582721	A	C	11582721	3	2	239	1	0	0	0	0	1	0	0	0	15884	98	4	5	3588	5	THSD7A	7	11582721	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	11389160	11582721	147555942	37	14591											
TMED4	222068	hgsc.bcm.edu	37	7	44621390	44621390	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr7:44621390T>G	ENST00000457408.2	-	2	245	c.193A>C	c.(193-195)Aag>Cag	p.K65Q	TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Missense_Mutation_p.K65Q|TMED4_ENST00000289577.5_Missense_Mutation_p.K65Q	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	65	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AAGACCTCCTTCTGCTTATCC	0.657																																																0													99	100	100					7																	44621390		2203	4300	6503	SO:0001583	missense	222068			BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.193A>C	chr7.hg19:g.44621390T>G	ENSP00000404042:p.Lys65Gln		A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Missense_Mutation	SNP	ENST00000457408.2	hg19	CCDS5493.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812640	0.50527	.	.	ENSG00000158604	ENST00000457408;ENST00000289577;ENST00000481238	T;T;T	0.46819	2.22;0.86;1.46	5.36	5.36	0.76844	GOLD (2);	0.227073	0.44285	D	0.000478	T	0.24353	0.0590	N	0.04018	-0.295	0.31797	N	0.628865	B;B	0.14438	0.01;0.007	B;B	0.19666	0.022;0.026	T	0.19192	-1.0313	10	0.27785	T	0.31	-9.1229	8.6427	0.33987	0.17:0.0:0.0:0.83	.	65;65	Q7Z7H5-3;Q7Z7H5	.;TMED4_HUMAN	Q	65	ENSP00000404042:K65Q;ENSP00000289577:K65Q;ENSP00000417443:K65Q	ENSP00000289577:K65Q	K	-	1	0	TMED4	44587915	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	1.146000	0.31589	2.246000	0.74042	0.533000	0.62120	AAG		0.657	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251290.1	NM_182547		G	44621390	T	G	44621390	3	3	239	1	0	0	0	0	1	0	0	0	16011	1792	62	5	506	5	TMED4	7	44621390	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	33038669	44621390	114517273	38	14592											
PNPLA8	50640	hgsc.bcm.edu	37	7	108154603	108154603	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr7:108154603delT	ENST00000422087.1	-	5	1597	c.1191delA	c.(1189-1191)aaafs	p.K397fs	PNPLA8_ENST00000453144.1_Frame_Shift_Del_p.K297fs|PNPLA8_ENST00000257694.8_Frame_Shift_Del_p.K397fs|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000426128.2_Frame_Shift_Del_p.K397fs|PNPLA8_ENST00000388728.5_Frame_Shift_Del_p.K397fs|PNPLA8_ENST00000436062.1_Frame_Shift_Del_p.K397fs	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	397					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CAGCCACTCCTTTTCCTTCAG	0.353																																																0													189	210	203					7																	108154603		2203	4300	6503	SO:0001589	frameshift_variant	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1191delA	chr7.hg19:g.108154603delT	ENSP00000410804:p.Lys397fs		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Frame_Shift_Del	DEL	ENST00000422087.1	hg19	CCDS34733.1																																																																																				0.353	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		-	108154603	T	-	108154603	7	5	239	1	0	1	0	1	0	0	0	0	12173	1606	56	0	1189	0	PNPLA8	7	108154603	Frame_Shift_Del	DEL	T	TCGA-B1-A657-01A-11D-A31X-10	63533213	108154603	50984060	39	14593											
CHCHD3	54927	hgsc.bcm.edu	37	7	132570441	132570442	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr7:132570441_132570442insG	ENST00000262570.5	-	5	577_578	c.433_434insC	c.(433-435)ctgfs	p.L145fs	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Frame_Shift_Ins_p.L150fs	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	145					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						CAGTCTAGCCAGCTGTTCTTTG	0.332																																																0																																										SO:0001589	frameshift_variant	54927			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21906	protein-coding gene	gene with protein product	"mitochondrial inner membrane organizing system 3", "protein phosphatase 1, regulatory subunit 22"	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.434dupC	chr7.hg19:g.132570442_132570442dupG	ENSP00000262570:p.Leu145fs			Frame_Shift_Ins	INS	ENST00000262570.5	hg19	CCDS5828.1																																																																																				0.332	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812		G	132570442	-	G	132570441	7	5	239	1	0	1	1	0	0	0	0	0	3319	188	7	0	265	0	CHCHD3	7	132570441	Frame_Shift_Ins	INS	-	TCGA-B1-A657-01A-11D-A31X-10	24415838	132570441	26568222	40	14594											
XRCC2	7516	hgsc.bcm.edu	37	7	152345944	152345944	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr7:152345944G>T	ENST00000359321.1	-	3	711	c.626C>A	c.(625-627)cCt>cAt	p.P209H	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	209					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GGCATGAGAAGGTTCTTCTGA	0.453								Homologous recombination																																								0													180	179	180					7																	152345944		2203	4300	6503	SO:0001583	missense	7516			Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"RAD51-like"	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.626C>A	chr7.hg19:g.152345944G>T	ENSP00000352271:p.Pro209His		B2R925	Missense_Mutation	SNP	ENST00000359321.1	hg19	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	G	3.744	-0.053028	0.07362	.	.	ENSG00000196584	ENST00000359321	T	0.59364	0.27	5.06	5.06	0.68205	.	0.796894	0.11753	N	0.532874	T	0.49098	0.1537	L	0.36672	1.1	0.09310	N	1	B	0.19331	0.035	B	0.21708	0.036	T	0.38134	-0.9675	10	0.45353	T	0.12	-11.3151	10.9302	0.47213	0.0958:0.0:0.9042:0.0	.	209	O43543	XRCC2_HUMAN	H	209	ENSP00000352271:P209H	ENSP00000352271:P209H	P	-	2	0	XRCC2	151976877	0.216000	0.23585	0.036000	0.18154	0.024000	0.10985	2.673000	0.46858	2.353000	0.79882	0.467000	0.42956	CCT		0.453	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		T	152345944	G	T	152345944	3	4	239	1	0	0	0	0	1	0	0	0	17458	1000	35	4	220	4	XRCC2	7	152345944	Missense_Mutation	SNP	G	TCGA-B1-A657-01A-11D-A31X-10	19775503	152345944	6792719	41	14595											
WDR67	93594	hgsc.bcm.edu	37	8	124154514	124154514	+	Missense_Mutation	SNP	A	A	T	rs144810574	byFrequency	TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr8:124154514A>T	ENST00000287380.1	+	19	2743	c.2653A>T	c.(2653-2655)Aat>Tat	p.N885Y	TBC1D31_ENST00000309336.3_Intron|TBC1D31_ENST00000378080.2_Intron|TBC1D31_ENST00000522420.1_Missense_Mutation_p.N780Y|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000521676.1_Missense_Mutation_p.N762Y|TBC1D31_ENST00000518805.1_Missense_Mutation_p.N439Y	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	885						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GATTAAAGAAAATTTGGCAAA	0.338																																																0													51	48	49					8																	124154514		2203	4300	6503	SO:0001583	missense	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2653A>T	chr8.hg19:g.124154514A>T	ENSP00000287380:p.Asn885Tyr		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	hg19	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474411	0.26423	.	.	ENSG00000156787	ENST00000287380;ENST00000522420;ENST00000521676;ENST00000518805	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.36	4.15	0.48705	.	0.359706	0.32120	N	0.006559	T	0.80199	0.4579	L	0.29908	0.895	0.58432	D	0.999994	P;B	0.42785	0.79;0.0	B;B	0.41723	0.365;0.001	T	0.81892	-0.0724	10	0.72032	D	0.01	-12.8896	9.5604	0.39366	0.7375:0.0:0.0:0.2625	.	780;885	E7ERK7;Q96DN5	.;WDR67_HUMAN	Y	885;780;762;439	ENSP00000287380:N885Y;ENSP00000429334:N780Y;ENSP00000430628:N762Y;ENSP00000429494:N439Y	ENSP00000287380:N885Y	N	+	1	0	WDR67	124223695	0.899000	0.30636	0.992000	0.48379	0.716000	0.41182	1.826000	0.39092	2.046000	0.60703	0.386000	0.25728	AAT		0.338	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		T	124154514	A	T	124154514	3	4	239	1	0	0	0	0	1	0	0	0	17323	14	1	5	2727	5	WDR67	8	124154514	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10		124154514	22209508	42	14596											
COL22A1	169044	hgsc.bcm.edu	37	8	139707081	139707081	+	Silent	SNP	C	C	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr8:139707081C>A	ENST00000303045.6	-	33	3080	c.2634G>T	c.(2632-2634)ctG>ctT	p.L878L	COL22A1_ENST00000435777.1_Silent_p.L878L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	878	Collagen-like 7.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTTCCCCAGGCAGGCCTGGAT	0.607										HNSCC(7;0.00092)																																						0													104	98	100					8																	139707081		2203	4300	6503	SO:0001819	synonymous_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2634G>T	chr8.hg19:g.139707081C>A			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	hg19	CCDS6376.1																																																																																				0.607	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139707081	C	A	139707081	2	1	239	1	0	0	0	0	0	0	0	1	3683	697	25	4		4	COL22A1	8	139707081	Silent	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	15552567	139707081	6656941	43	14597											
SCRIB	23513	hgsc.bcm.edu	37	8	144892982	144892982	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr8:144892982A>T	ENST00000320476.3	-	12	1284	c.1278T>A	c.(1276-1278)gaT>gaA	p.D426E	SCRIB_ENST00000356994.2_Missense_Mutation_p.D426E|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.D345E	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	426	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTGCCCAGCATCCTCTGCAG	0.662																																					Pancreas(51;966 1133 10533 14576 29674)											0													24	25	25					8																	144892982		2202	4298	6500	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1278T>A	chr8.hg19:g.144892982A>T	ENSP00000322938:p.Asp426Glu		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	hg19	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951040	0.53186	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.76448	-1.02;-1.02;-1.02	3.91	-5.87	0.02297	.	.	.	.	.	T	0.37972	0.1023	N	0.02011	-0.69	0.19775	N	0.999951	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.40683	-0.9550	9	0.06365	T	0.9	.	0.624	0.00783	0.3145:0.12:0.3208:0.2448	.	426;426	Q14160;Q14160-3	SCRIB_HUMAN;.	E	426;426;345	ENSP00000349486:D426E;ENSP00000322938:D426E;ENSP00000366756:D345E	ENSP00000322938:D426E	D	-	3	2	SCRIB	144964970	0.000000	0.05858	0.001000	0.08648	0.733000	0.41908	-0.296000	0.08287	-1.858000	0.01158	-0.464000	0.05259	GAT		0.662	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		T	144892982	A	T	144892982	3	4	239	1	0	0	0	0	1	0	0	0	13943	214	8	5	3793	5	SCRIB	8	144892982	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	5185901	144892982	1471040	44	14598											
SHB	6461	hgsc.bcm.edu	37	9	37919918	37919918	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr9:37919918delC	ENST00000377707.3	-	6	1995	c.1430delG	c.(1429-1431)agtfs	p.S477fs	RP11-613M10.9_ENST00000540557.1_Intron	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	477	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TTCCGGGACACTGTCGAACGG	0.517																																																0													145	154	151					9																	37919918		2044	4183	6227	SO:0001589	frameshift_variant	6461				CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"SH2 domain containing"	10838	protein-coding gene	gene with protein product		600314	"SHB adaptor protein (a Src homology 2 protein)", "SHB (Src homology 2 domain containing) adaptor protein B"			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1430delG	chr9.hg19:g.37919918delC	ENSP00000366936:p.Ser477fs		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Frame_Shift_Del	DEL	ENST00000377707.3	hg19	CCDS43806.1																																																																																				0.517	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			-	37919918	C	-	37919918	7	5	239	1	0	1	0	1	0	0	0	0	14274	565	20	0	103	0	SHB	9	37919918	Frame_Shift_Del	DEL	C	TCGA-B1-A657-01A-11D-A31X-10		37919918	103293513	45	14599											
C9orf86	55684	hgsc.bcm.edu	37	9	139734263	139734263	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr9:139734263G>A	ENST00000311502.7	+	13	2112	c.1876G>A	c.(1876-1878)Gac>Aac	p.D626N	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371675.3_Missense_Mutation_p.D511N|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Missense_Mutation_p.D627N			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	626					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GAATGACTCGGACCTCTTCGG	0.657																																																0													29	35	33					9																	139734263		1894	4100	5994	SO:0001583	missense	55684			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1876G>A	chr9.hg19:g.139734263G>A	ENSP00000311134:p.Asp626Asn		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	hg19	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	.	19.33	3.807620	0.70797	.	.	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000371675;ENST00000435930	T;T;T;T	0.80909	-1.11;-1.14;-1.13;-1.43	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.88930	0.6571	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.90196	0.4253	10	0.66056	D	0.02	-24.3311	15.167	0.72837	0.0:0.0:1.0:0.0	.	420;627;626	B1AMX5;Q3YEC7-2;Q3YEC7	.;.;PARF_HUMAN	N	627;626;511;420	ENSP00000360727:D627N;ENSP00000311134:D626N;ENSP00000360740:D511N;ENSP00000408442:D420N	ENSP00000311134:D626N	D	+	1	0	C9orf86	138854084	1.000000	0.71417	0.511000	0.27724	0.034000	0.12701	7.931000	0.87625	2.162000	0.67917	0.561000	0.74099	GAC		0.657	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		A	139734263	G	A	139734263	3	1	239	1	0	0	0	0	1	0	0	0	2504	1174	41	2	2173	2	C9orf86	9	139734263	Missense_Mutation	SNP	G	TCGA-B1-A657-01A-11D-A31X-10	101814345	139734263	1479168	46	14600											
PTEN	5728	hgsc.bcm.edu	37	10	89692845	89692845	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr10:89692845delA	ENST00000371953.3	+	5	1686	c.329delA	c.(328-330)caafs	p.Q110fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	110	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GATCTTGACCAATGGCTAAGT	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	50	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)											127	117	121					10																	89692845		2203	4297	6500	SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.329delA	chr10.hg19:g.89692845delA	ENSP00000361021:p.Gln110fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	hg19	CCDS31238.1																																																																																				0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89692845	A	-	89692845	7	5	239	1	0	1	0	1	0	0	0	0	12743	130	5	0	347	0	PTEN	10	89692845	Frame_Shift_Del	DEL	A	TCGA-B1-A657-01A-11D-A31X-10		89692845	45841902	47	14601											
SYCE1	93426	hgsc.bcm.edu	37	10	135372389	135372390	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr10:135372389_135372390AG>TT	ENST00000343131.5	-	4	366_367	c.262_263CT>AA	c.(262-264)CTg>AAg	p.L88K	SYCE1_ENST00000368517.3_Missense_Mutation_p.L52K|SYCE1_ENST00000432597.2_Missense_Mutation_p.L52K|SPRN_ENST00000541506.1_Intron	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	88					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ACGCGAGTCCAGTTCCTTCTGC	0.53																																																0																																										SO:0001583	missense	93426			AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.262_263delinsTT	chr10.hg19:g.135372389_135372390delinsTT	ENSP00000341282:p.Leu88Lys		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	hg19	CCDS44501.1																																																																																				0.53	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		TT	135372390	AG	TT	135372389	3	4	239	1	0	0	0	0	1	0	0	0	15433	188	7	5	875	5	SYCE1	10	135372389	Missense_Mutation	DNP	AG	TCGA-B1-A657-01A-11D-A31X-10	45679544	135372389	162358	48	14602											
DAK	26007	hgsc.bcm.edu	37	11	61111339	61111339	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr11:61111339A>G	ENST00000394900.3	+	12	1223	c.994A>G	c.(994-996)Act>Gct	p.T332A		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	332	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TGCTGAAACCACTGCAGCAGC	0.627																																																0													88	95	93					11																	61111339		2203	4299	6502	SO:0001583	missense	26007				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.994A>G	chr11.hg19:g.61111339A>G	ENSP00000378360:p.Thr332Ala		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	hg19	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	A	9.592	1.126311	0.20959	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.29142	1.58;1.58	5.84	3.45	0.39498	Dak kinase (2);	0.410578	0.28219	N	0.016157	T	0.18045	0.0433	N	0.25957	0.775	0.19575	N	0.999969	B;B	0.11235	0.004;0.0	B;B	0.16289	0.015;0.005	T	0.21280	-1.0250	10	0.25106	T	0.35	-6.7353	5.6557	0.17640	0.6665:0.0:0.0707:0.2628	.	332;332	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	A	332;331	ENSP00000378360:T332A;ENSP00000432539:T331A	ENSP00000378360:T332A	T	+	1	0	DAK	60867915	0.984000	0.35163	0.040000	0.18447	0.922000	0.55478	3.052000	0.49893	0.443000	0.26582	0.533000	0.62120	ACT		0.627	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		G	61111339	A	G	61111339	3	3	239	1	0	0	0	0	1	0	0	0	4230	159	6	3	1036	3	DAK	11	61111339	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10		61111339	73895177	49	14603											
CCDC87	55231	hgsc.bcm.edu	37	11	66359427	66359427	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr11:66359427C>T	ENST00000333861.3	-	1	1127	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	354					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGATCCTCAGCCACGATGAGC	0.587																																																0													49	55	53					11																	66359427		2200	4295	6495	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1060G>A	chr11.hg19:g.66359427C>T	ENSP00000328487:p.Ala354Thr		Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	hg19	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390249	0.42410	.	.	ENSG00000182791	ENST00000333861	T	0.32753	1.44	5.3	1.08	0.20341	.	0.256314	0.25159	N	0.032698	T	0.24353	0.0590	M	0.67953	2.075	0.31044	N	0.715953	B	0.27882	0.192	B	0.21151	0.033	T	0.13150	-1.0520	10	0.44086	T	0.13	.	3.6025	0.08030	0.1848:0.5359:0.0:0.2793	.	354	Q9NVE4	CCD87_HUMAN	T	354	ENSP00000328487:A354T	ENSP00000328487:A354T	A	-	1	0	CCDC87	66116003	0.993000	0.37304	0.982000	0.44146	0.282000	0.26991	0.720000	0.25896	0.395000	0.25257	-0.251000	0.11542	GCT		0.587	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		T	66359427	C	T	66359427	3	4	239	1	0	0	0	0	1	0	0	0	2864	739	26	2	1493	2	CCDC87	11	66359427	Missense_Mutation	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	5248088	66359427	68647089	50	14604											
ANKRD13D	338692	hgsc.bcm.edu	37	11	67058950	67058950	+	Missense_Mutation	SNP	C	C	A	rs373999660		TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr11:67058950C>A	ENST00000447274.2	+	4	1269	c.94C>A	c.(94-96)Ccc>Acc	p.P32T	ANKRD13D_ENST00000514166.1_Missense_Mutation_p.P32T|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.P32T|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.P119T			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	32						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTCTTAGGCCCCCGATTTCTA	0.627																																																0													58	61	60					11																	67058950		2200	4295	6495	SO:0001583	missense	338692			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"Ankyrin repeat domain containing"	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.94C>A	chr11.hg19:g.67058950C>A	ENSP00000402616:p.Pro32Thr		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	hg19		.	.	.	.	.	.	.	.	.	.	C	14.41	2.526001	0.44969	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.35048	1.33;1.49;1.33;1.33	3.95	3.02	0.34903	.	0.093915	0.45361	D	0.000371	T	0.45538	0.1347	M	0.67397	2.05	0.45108	D	0.998126	P;D	0.59357	0.887;0.985	B;P	0.53809	0.441;0.735	T	0.44862	-0.9300	10	0.66056	D	0.02	-20.8257	8.6108	0.33801	0.0:0.7549:0.157:0.0882	.	119;32	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	T	32;119;32;32	ENSP00000402616:P32T;ENSP00000427130:P119T;ENSP00000310874:P32T;ENSP00000444404:P32T	ENSP00000310874:P32T	P	+	1	0	ANKRD13D	66815526	0.007000	0.16637	0.972000	0.41901	0.271000	0.26615	1.546000	0.36179	1.014000	0.39417	0.561000	0.74099	CCC		0.627	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		A	67058950	C	A	67058950	3	1	239	1	0	0	0	0	1	0	0	0	644	623	22	4	369	4	ANKRD13D	11	67058950	Missense_Mutation	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	699523	67058950	67947566	51	14605											
PITPNM1	9600	hgsc.bcm.edu	37	11	67267651	67267651	+	Silent	SNP	G	G	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr11:67267651G>A	ENST00000534749.1	-	5	1070	c.882C>T	c.(880-882)ccC>ccT	p.P294P	PITPNM1_ENST00000356404.3_Silent_p.P294P|PITPNM1_ENST00000436757.2_Silent_p.P294P			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	294					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CTGGGCCTGGGGGGGCCTCAG	0.692																																					GBM(28;144 709 4607 5525)											0													25	31	29					11																	67267651		2171	4250	6421	SO:0001819	synonymous_variant	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.882C>T	chr11.hg19:g.67267651G>A			A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	hg19	CCDS31620.1																																																																																				0.692	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		A	67267651	G	A	67267651	2	1	239	1	0	0	0	0	0	0	0	1	11952	1219	43	2		2	PITPNM1	11	67267651	Silent	SNP	G	TCGA-B1-A657-01A-11D-A31X-10	208701	67267651	67738865	52	14606											
LASS5	91012	hgsc.bcm.edu	37	12	50529605	50529605	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr12:50529605T>C	ENST00000317551.6	-	8	906	c.782A>G	c.(781-783)aAt>aGt	p.N261S	CERS5_ENST00000422340.2_Missense_Mutation_p.N203S	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	261	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CTTGGCATAATTGGCCAGTTT	0.428																																																0													92	88	89					12																	50529605		2203	4300	6503	SO:0001583	missense	91012				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"Homeoboxes / CERS class"	23749	protein-coding gene	gene with protein product		615335	"LAG1 longevity assurance homolog 5 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 5"	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.782A>G	chr12.hg19:g.50529605T>C	ENSP00000325485:p.Asn261Ser		B4DV54	Missense_Mutation	SNP	ENST00000317551.6	hg19	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.79|15.79	2.936979|2.936979	0.52972|0.52972	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000550547;ENST00000547800|ENST00000551005;ENST00000317551;ENST00000422340	.|D;D;D	.|0.84660	.|-1.88;-1.88;-1.88	4.7|4.7	4.7|4.7	0.59300|0.59300	.|TRAM/LAG1/CLN8 homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86239|0.86239	0.5885|0.5885	L|L	0.58101|0.58101	1.795|1.795	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;P	.|0.40794	.|0.688;0.198;0.729	.|P;B;P	.|0.47346	.|0.491;0.14;0.544	D|D	0.86223|0.86223	0.1632|0.1632	5|10	.|0.42905	.|T	.|0.14	-12.9936|-12.9936	14.6573|14.6573	0.68844|0.68844	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|203;261;180	.|B4DV54;Q8N5B7;F8W0U5	.|.;CERS5_HUMAN;.	V|S	63;165|180;261;203	.|ENSP00000447556:N180S;ENSP00000325485:N261S;ENSP00000389050:N203S	.|ENSP00000325485:N261S	I|N	-|-	1|2	0|0	CERS5|CERS5	48815872|48815872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.868000|7.868000	0.87116|0.87116	2.099000|2.099000	0.63709|0.63709	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.428	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		C	50529605	T	C	50529605	3	2	239	1	0	0	0	0	1	0	0	0	8644	1493	52	3	408	3	LASS5	12	50529605	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10		50529605	83322290	53	14607											
SIRT4	23409	hgsc.bcm.edu	37	12	120750516	120750517	+	Frame_Shift_Del	DEL	AA	AA	-	rs16950058|rs201277474	byFrequency	TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr12:120750516_120750517delAA	ENST00000202967.4	+	3	814_815	c.755_756delAA	c.(754-756)gaafs	p.E252fs	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTGTAAAAGAAGCCGACTCCC	0.525																																																0																																										SO:0001589	frameshift_variant	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.755_756delAA	chr12.hg19:g.120750516_120750517delAA	ENSP00000202967:p.Glu252fs			Frame_Shift_Del	DEL	ENST00000202967.4	hg19	CCDS9194.1																																																																																				0.525	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		-	120750517	AA	-	120750516	7	5	239	1	0	1	0	1	0	0	0	0	14346	246	9	0	761	0	SIRT4	12	120750516	Frame_Shift_Del	DEL	AA	TCGA-B1-A657-01A-11D-A31X-10	70220911	120750516	13101379	54	14608											
GSX1	219409	hgsc.bcm.edu	37	13	28367053	28367053	+	Silent	SNP	C	C	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr13:28367053C>T	ENST00000302945.2	+	1	274	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	76					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		gccgcccgcgcTGCCTCTACT	0.741																																																0													2	3	3					13																	28367053		1552	3186	4738	SO:0001819	synonymous_variant	219409			AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"Homeoboxes / ANTP class : HOXL subclass"	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.226C>T	chr13.hg19:g.28367053C>T			Q9UD62	Silent	SNP	ENST00000302945.2	hg19	CCDS9326.1																																																																																				0.741	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657		T	28367053	C	T	28367053	2	4	239	1	0	0	0	0	0	0	0	1	6851	796	28	2		2	GSX1	13	28367053	Silent	SNP	C	TCGA-B1-A657-01A-11D-A31X-10		28367053	86802825	55	14609											
NBEA	26960	hgsc.bcm.edu	37	13	35758158	35758158	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr13:35758158T>G	ENST00000400445.3	+	30	5411	c.4877T>G	c.(4876-4878)tTc>tGc	p.F1626C	NBEA_ENST00000540320.1_Missense_Mutation_p.F1626C|NBEA_ENST00000379939.2_Missense_Mutation_p.F1623C|NBEA_ENST00000310336.4_Missense_Mutation_p.F1626C	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1626					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AACCATGGATTCCTTGCCAAG	0.413																																																0													122	110	113					13																	35758158		1890	4124	6014	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4877T>G	chr13.hg19:g.35758158T>G	ENSP00000383295:p.Phe1626Cys		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497854	0.44455	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.50277	0.76;0.75;0.75;0.76	5.82	5.82	0.92795	.	0.290400	0.35291	N	0.003313	T	0.31796	0.0808	N	0.08118	0	0.80722	D	1	B	0.27732	0.187	B	0.30855	0.121	T	0.19745	-1.0296	10	0.45353	T	0.12	.	14.7488	0.69508	0.0:0.0:0.0:1.0	.	1623	Q5T321	.	C	1626;1626;1623;1626	ENSP00000440951:F1626C;ENSP00000383295:F1626C;ENSP00000369271:F1623C;ENSP00000308534:F1626C	ENSP00000308534:F1626C	F	+	2	0	NBEA	34656158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.896000	0.63222	2.222000	0.72286	0.383000	0.25322	TTC		0.413	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		G	35758158	T	G	35758158	3	3	239	1	0	0	0	0	1	0	0	0	10189	1783	62	5	4995	5	NBEA	13	35758158	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	7391105	35758158	79411720	56	14610											
IRS2	8660	hgsc.bcm.edu	37	13	110436093	110436093	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr13:110436093A>G	ENST00000375856.3	-	1	2822	c.2308T>C	c.(2308-2310)Tcc>Ccc	p.S770P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	770					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TCGCTGGGGGACACGTTGAGG	0.682																																					Melanoma(100;613 2409 40847)											0													20	13	15					13																	110436093		2115	4168	6283	SO:0001583	missense	8660			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2308T>C	chr13.hg19:g.110436093A>G	ENSP00000365016:p.Ser770Pro		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	hg19	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213503	0.39102	.	.	ENSG00000185950	ENST00000375856	T	0.22336	1.96	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.80746	2.51	0.58432	D	0.999993	D	0.76494	0.999	D	0.83275	0.996	T	0.54629	-0.8265	10	0.72032	D	0.01	-21.3465	13.69	0.62539	1.0:0.0:0.0:0.0	.	770	Q9Y4H2	IRS2_HUMAN	P	770	ENSP00000365016:S770P	ENSP00000365016:S770P	S	-	1	0	IRS2	109234094	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.780000	0.62382	1.821000	0.53095	0.448000	0.29417	TCC		0.682	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		G	110436093	A	G	110436093	3	3	239	1	0	0	0	0	1	0	0	0	7843	275	10	3	1716	3	IRS2	13	110436093	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	74677935	110436093	4733785	57	14611											
GPR137C	283554	hgsc.bcm.edu	37	14	53099007	53099007	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr14:53099007T>A	ENST00000321662.6	+	4	847	c.847T>A	c.(847-849)Tgg>Agg	p.W283R		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	283						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TAATTATGGCTGGGATAATCT	0.378																																																0													125	122	123					14																	53099007		1858	4099	5957	SO:0001583	missense	283554			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.847T>A	chr14.hg19:g.53099007T>A	ENSP00000315106:p.Trp283Arg		Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	hg19	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.606362|4.606362	0.87157|0.87157	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000542169|ENST00000321662	.|T	.|0.62498	.|0.02	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77942|0.77942	0.4206|0.4206	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.80360|0.80360	-0.1415|-0.1415	5|10	.|0.87932	.|D	.|0	-12.2616|-12.2616	16.0439|16.0439	0.80704|0.80704	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|283;112	.|Q8N3F9;B3KW22	.|G137C_HUMAN;.	Q|R	252|283	.|ENSP00000315106:W283R	.|ENSP00000315106:W283R	L|W	+|+	2|1	0|0	GPR137C|GPR137C	52168757|52168757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.499000|7.499000	0.81566|0.81566	2.250000|2.250000	0.74265|0.74265	0.482000|0.482000	0.46254|0.46254	CTG|TGG		0.378	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		A	53099007	T	A	53099007	3	1	239	1	0	0	0	0	1	0	0	0	6649	1580	55	5	861	5	GPR137C	14	53099007	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10		53099007	54250533	58	14612											
DNAJC17	55192	hgsc.bcm.edu	37	15	41099608	41099608	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr15:41099608A>G	ENST00000220496.4	-	1	67	c.37T>C	c.(37-39)Tac>Cac	p.Y13H	ZFYVE19_ENST00000299173.10_5'Flank|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.Y41C|ZFYVE19_ENST00000355341.4_5'UTR|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.Y41C	NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	13	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCAGCGCGTACAGGTCCATC	0.577																																																0													180	134	150					15																	41099608		2203	4300	6503	SO:0001583	missense	84936			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.37T>C	chr15.hg19:g.41099608A>G	ENSP00000220496:p.Tyr13His			Missense_Mutation	SNP	ENST00000220496.4	hg19	CCDS10065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.8|27.8	4.859778|4.859778	0.91433|0.91433	.|.	.|.	ENSG00000166140|ENSG00000104129	ENST00000336455|ENST00000220496	T|T	0.27402|0.58940	1.67|0.3	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Heat shock protein DnaJ, N-terminal (5);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.81730|0.81730	0.4884|0.4884	M|M	0.94063|0.94063	3.49|3.49	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.86513|0.86513	0.1811|0.1811	8|10	0.87932|0.87932	D|D	0|0	.|.	14.7373|14.7373	0.69424|0.69424	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|13	.|Q9NVM6	.|DJC17_HUMAN	C|H	41|13	ENSP00000337824:Y41C|ENSP00000220496:Y13H	ENSP00000337824:Y41C|ENSP00000220496:Y13H	Y|Y	+|-	2|1	0|0	ZFYVE19|DNAJC17	38886900|38886900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.383000|5.383000	0.66219|0.66219	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TAC|TAC		0.577	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163		G	41099608	A	G	41099608	3	3	239	1	0	0	0	0	1	0	0	0	4638	391	14	3	921	3	DNAJC17	15	41099608	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10		41099608	61431784	59	14613											
MFAP1	4236	hgsc.bcm.edu	37	15	44105507	44105507	+	Silent	SNP	C	C	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr15:44105507C>T	ENST00000267812.3	-	5	898	c.666G>A	c.(664-666)caG>caA	p.Q222Q		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	222					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CCAGCTCCTTCTGTTTCAATG	0.488																																																0													350	297	315					15																	44105507		2198	4298	6496	SO:0001819	synonymous_variant	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.666G>A	chr15.hg19:g.44105507C>T			Q86TG6	Silent	SNP	ENST00000267812.3	hg19	CCDS10105.1																																																																																				0.488	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		T	44105507	C	T	44105507	2	4	239	1	0	0	0	0	0	0	0	1	9515	912	32	2		2	MFAP1	15	44105507	Silent	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	3005899	44105507	58425885	60	14614											
PIF1	80119	hgsc.bcm.edu	37	15	65114469	65114469	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr15:65114469A>T	ENST00000268043.4	-	4	907	c.813T>A	c.(811-813)ttT>ttA	p.F271L	PIF1_ENST00000333425.6_Missense_Mutation_p.F271L|PIF1_ENST00000559239.1_Missense_Mutation_p.F271L					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						ACTTACCTGCAAAGGCATGGA	0.612																																																0													60	64	63					15																	65114469		2202	4299	6501	SO:0001583	missense	80119			AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.813T>A	chr15.hg19:g.65114469A>T	ENSP00000268043:p.Phe271Leu			Missense_Mutation	SNP	ENST00000268043.4	hg19	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553832	0.86231	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.52295	0.67;0.67	4.98	2.66	0.31614	.	0.100402	0.64402	D	0.000001	T	0.54711	0.1875	L	0.48174	1.505	0.80722	D	1	D	0.58970	0.984	D	0.64877	0.93	T	0.50725	-0.8794	10	0.54805	T	0.06	-11.173	7.9896	0.30233	0.8322:0.0:0.1678:0.0	.	271	Q9H611	PIF1_HUMAN	L	271	ENSP00000268043:F271L;ENSP00000328174:F271L	ENSP00000268043:F271L	F	-	3	2	PIF1	62901522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.558000	0.36309	0.336000	0.23639	0.533000	0.62120	TTT		0.612	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		T	65114469	A	T	65114469	3	4	239	1	0	0	0	0	1	0	0	0	11885	127	5	5	1152	5	PIF1	15	65114469	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	21008962	65114469	37416923	61	14615											
NEO1	4756	hgsc.bcm.edu	37	15	73581573	73581573	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr15:73581573C>A	ENST00000339362.5	+	26	4183	c.3736C>A	c.(3736-3738)Ccc>Acc	p.P1246T	NEO1_ENST00000560262.1_Missense_Mutation_p.P1246T|NEO1_ENST00000261908.6_Missense_Mutation_p.P1246T|NEO1_ENST00000558964.1_Missense_Mutation_p.P1235T			Q92859	NEO1_HUMAN	neogenin 1	1246					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCCCAGCCACCCCAGCGTAA	0.458																																																0													154	102	119					15																	73581573		2198	4297	6495	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3736C>A	chr15.hg19:g.73581573C>A	ENSP00000341198:p.Pro1246Thr		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	hg19	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713733	0.89112	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.45276	0.9;0.9	5.48	5.48	0.80851	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;0.999	D;D;D;D	0.75484	0.986;0.968;0.98;0.98	T	0.53627	-0.8412	10	0.17832	T	0.49	-12.2116	19.387	0.94560	0.0:1.0:0.0:0.0	.	1246;1235;957;1246	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	T	1246;957;1246	ENSP00000341198:P1246T;ENSP00000261908:P1246T	ENSP00000261908:P1246T	P	+	1	0	NEO1	71368626	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.463000	0.80869	2.572000	0.86782	0.655000	0.94253	CCC		0.458	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		A	73581573	C	A	73581573	3	1	239	1	0	0	0	0	1	0	0	0	10338	507	18	4	3834	4	NEO1	15	73581573	Missense_Mutation	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	8467104	73581573	28949819	62	14616											
PML	5371	hgsc.bcm.edu	37	15	74325643	74325643	+	Silent	SNP	G	G	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr15:74325643G>A	ENST00000268058.3	+	6	1641	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	PML_ENST00000563500.1_Silent_p.K467K|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Silent_p.K467K|PML_ENST00000569477.1_Silent_p.K515K|PML_ENST00000435786.2_Silent_p.K515K|PML_ENST00000268059.6_Silent_p.K515K|PML_ENST00000395135.3_Silent_p.K515K|PML_ENST00000565898.1_Silent_p.K467K|PML_ENST00000436891.3_Silent_p.K515K|PML_ENST00000567543.1_Intron|PML_ENST00000569965.1_Silent_p.K515K|PML_ENST00000354026.6_Silent_p.K467K|PML_ENST00000395132.2_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	515	Interaction with PER2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCACCTCCAAGGCAGTCTCAC	0.652			T	"RARA, PAX5"	"APL, ALL"																																		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													62	58	60					15																	74325643		2198	4297	6495	SO:0001819	synonymous_variant	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1545G>A	chr15.hg19:g.74325643G>A			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	hg19	CCDS10255.1																																																																																				0.652	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		A	74325643	G	A	74325643	2	1	239	1	0	0	0	0	0	0	0	1	12137	991	35	2		2	PML	15	74325643	Silent	SNP	G	TCGA-B1-A657-01A-11D-A31X-10	744070	74325643	28205749	63	14617											
SLC28A1	9154	hgsc.bcm.edu	37	15	85476453	85476453	+	Silent	SNP	G	G	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr15:85476453G>A	ENST00000286749.3	+	12	1251	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	SLC28A1_ENST00000394573.1_Silent_p.P387P|SLC28A1_ENST00000537624.1_Silent_p.P387P|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Silent_p.P387P			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	387					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TGGTCTACCCGGAGGTGGAGG	0.572																																																0													132	113	119					15																	85476453		2203	4299	6502	SO:0001819	synonymous_variant	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1161G>A	chr15.hg19:g.85476453G>A			A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	hg19	CCDS10334.1																																																																																				0.572	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			A	85476453	G	A	85476453	2	1	239	1	0	0	0	0	0	0	0	1	14537	1103	39	1		1	SLC28A1	15	85476453	Silent	SNP	G	TCGA-B1-A657-01A-11D-A31X-10	11150810	85476453	17054939	64	14618											
ZNF597	146434	hgsc.bcm.edu	37	16	3487293	3487293	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr16:3487293A>T	ENST00000301744.4	-	4	641	c.406T>A	c.(406-408)Tta>Ata	p.L136I		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TTGGTTCCTAAATATTCAGAG	0.403																																																0													133	137	136					16																	3487293		2197	4300	6497	SO:0001583	missense	146434			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.406T>A	chr16.hg19:g.3487293A>T	ENSP00000301744:p.Leu136Ile			Missense_Mutation	SNP	ENST00000301744.4	hg19	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	A	5.442	0.266748	0.10294	.	.	ENSG00000167981	ENST00000301744	T	0.06849	3.25	4.91	2.52	0.30459	.	0.000000	0.36101	N	0.002790	T	0.05593	0.0147	L	0.41236	1.265	0.09310	N	1	P	0.47350	0.894	B	0.39935	0.314	T	0.31251	-0.9950	10	0.22706	T	0.39	-1.0026	3.965	0.09428	0.7202:0.0:0.0973:0.1825	.	136	Q96LX8	ZN597_HUMAN	I	136	ENSP00000301744:L136I	ENSP00000301744:L136I	L	-	1	2	ZNF597	3427294	0.067000	0.21026	0.811000	0.32455	0.229000	0.25112	0.918000	0.28678	0.994000	0.38892	0.533000	0.62120	TTA		0.403	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		T	3487293	A	T	3487293	3	4	239	1	0	0	0	0	1	0	0	0	18032	11	1	5	872	5	ZNF597	16	3487293	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10		3487293	86867460	65	14619											
ZNF646	9726	hgsc.bcm.edu	37	16	31092685	31092685	+	Silent	SNP	C	C	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr16:31092685C>T	ENST00000394979.2	+	1	5463	c.5040C>T	c.(5038-5040)acC>acT	p.T1680T	ZNF646_ENST00000300850.5_Silent_p.T1680T			O15015	ZN646_HUMAN	zinc finger protein 646	1680					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCCGCTGCACCCAGTGCGGGC	0.652																																																0													68	80	76					16																	31092685		2197	4300	6497	SO:0001819	synonymous_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5040C>T	chr16.hg19:g.31092685C>T			Q8IVD8	Silent	SNP	ENST00000394979.2	hg19																																																																																					0.652	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		T	31092685	C	T	31092685	2	4	239	1	0	0	0	0	0	0	0	1	18067	610	22	2		2	ZNF646	16	31092685	Silent	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	27605392	31092685	59262068	66	14620											
ITGAM	3684	hgsc.bcm.edu	37	16	31335987	31335987	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr16:31335987C>A	ENST00000287497.8	+	18	2248	c.2173C>A	c.(2173-2175)Cca>Aca	p.P725T	ITGAM_ENST00000544665.3_Missense_Mutation_p.P726T			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	725					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CATCGAGGACCCAGTGAGCCC	0.602																																																0													49	51	50					16																	31335987		1980	4148	6128	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2173C>A	chr16.hg19:g.31335987C>A	ENSP00000287497:p.Pro725Thr		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	hg19	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	5.122	0.208084	0.09704	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.42513	0.97;0.97	4.64	-0.352	0.12598	Integrin alpha-2 (1);	.	.	.	.	T	0.16599	0.0399	N	0.11427	0.14	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.007;0.004;0.004	T	0.28586	-1.0039	9	0.07030	T	0.85	.	3.2574	0.06836	0.4401:0.1772:0.0:0.3826	.	131;725;725	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	T	726;725	ENSP00000441691:P726T;ENSP00000287497:P725T	ENSP00000287497:P725T	P	+	1	0	ITGAM	31243488	0.534000	0.26362	0.001000	0.08648	0.001000	0.01503	0.014000	0.13333	-0.004000	0.14419	-1.364000	0.01208	CCA		0.602	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		A	31335987	C	A	31335987	3	1	239	1	0	0	0	0	1	0	0	0	7889	623	22	4	2246	4	ITGAM	16	31335987	Missense_Mutation	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	243302	31335987	59018766	67	14621											
CLEC18A	348174	hgsc.bcm.edu	37	16	69988283	69988283	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr16:69988283T>C	ENST00000288040.6	+	3	450	c.263T>C	c.(262-264)cTc>cCc	p.L88P	CLEC18A_ENST00000568461.1_Missense_Mutation_p.L88P|CLEC18A_ENST00000449317.2_Missense_Mutation_p.L88P|CLEC18A_ENST00000393701.2_Missense_Mutation_p.L88P	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	88	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						AGGGCAGCCCTCTGTGGAACC	0.662																																																0													54	49	51					16																	69988283		2198	4300	6498	SO:0001583	missense	348174			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.263T>C	chr16.hg19:g.69988283T>C	ENSP00000288040:p.Leu88Pro		A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Missense_Mutation	SNP	ENST00000288040.6	hg19	CCDS10886.1	.	.	.	.	.	.	.	.	.	.	.	9.120	1.008658	0.19199	.	.	ENSG00000157322	ENST00000393701;ENST00000539957;ENST00000449317;ENST00000288040	T;T;T	0.07908	3.15;3.15;3.15	1.97	1.97	0.26223	CAP domain (3);	0.922111	0.09270	N	0.825284	T	0.07999	0.0200	L	0.47190	1.495	0.52501	D	0.999956	B;B;B	0.19331	0.035;0.004;0.003	B;B;B	0.17098	0.017;0.007;0.006	T	0.17137	-1.0379	9	.	.	.	.	5.9927	0.19476	0.0:0.0:0.0:1.0	.	88;88;88	B4DPF2;A5D8T8;F8W692	.;CL18A_HUMAN;.	P	88	ENSP00000377304:L88P;ENSP00000413990:L88P;ENSP00000288040:L88P	.	L	+	2	0	CLEC18A	68545784	0.004000	0.15560	0.898000	0.35279	0.442000	0.32017	0.109000	0.15417	1.168000	0.42723	0.155000	0.16302	CTC		0.662	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		C	69988283	T	C	69988283	3	2	239	1	0	0	0	0	1	0	0	0	3504	1551	54	3	273	3	CLEC18A	16	69988283	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	38652296	69988283	20366470	68	14622											
ZFHX3	463	hgsc.bcm.edu	37	16	72984405	72984405	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr16:72984405A>C	ENST00000268489.5	-	3	3851	c.3179T>G	c.(3178-3180)gTc>gGc	p.V1060G	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V146G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1060					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTGGAGTTGACCGTGTGCAG	0.602																																																0													70	59	63					16																	72984405		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3179T>G	chr16.hg19:g.72984405A>C	ENSP00000268489:p.Val1060Gly		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939889	0.52972	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.49432	0.78;0.78	5.31	4.22	0.49857	Zinc finger, C2H2-like (1);	0.148255	0.30464	N	0.009580	T	0.42449	0.1203	N	0.19112	0.55	0.80722	D	1	P	0.48640	0.913	P	0.51918	0.684	T	0.25606	-1.0127	10	0.41790	T	0.15	.	11.0251	0.47741	0.927:0.0:0.073:0.0	.	1060	Q15911	ZFHX3_HUMAN	G	1060;146	ENSP00000268489:V1060G;ENSP00000438926:V146G	ENSP00000268489:V1060G	V	-	2	0	ZFHX3	71541906	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	5.860000	0.69546	0.859000	0.35456	0.528000	0.53228	GTC		0.602	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		C	72984405	A	C	72984405	3	2	239	1	0	0	0	0	1	0	0	0	17639	275	10	5	7964	5	ZFHX3	16	72984405	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	2996122	72984405	17370348	69	14623											
JPH3	57338	hgsc.bcm.edu	37	16	87678517	87678517	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr16:87678517G>A	ENST00000284262.2	+	2	1278	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	346					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCTCGTCGGCGGCAAGCGCAA	0.677																																																0													45	54	51					16																	87678517		2197	4300	6497	SO:0001583	missense	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1036G>A	chr16.hg19:g.87678517G>A	ENSP00000284262:p.Gly346Ser		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	hg19	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531280	0.85706	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.45668	0.89	4.56	4.56	0.56223	.	0.050973	0.85682	D	0.000000	T	0.37919	0.1021	L	0.46157	1.445	0.80722	D	1	P	0.42941	0.794	B	0.38562	0.276	T	0.29088	-1.0023	10	0.37606	T	0.19	.	16.3368	0.83067	0.0:0.0:1.0:0.0	.	346	Q8WXH2	JPH3_HUMAN	S	209;346	ENSP00000284262:G346S	ENSP00000284262:G346S	G	+	1	0	JPH3	86236018	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.580000	0.98207	2.098000	0.63641	0.561000	0.74099	GGC		0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			A	87678517	G	A	87678517	3	1	239	1	0	0	0	0	1	0	0	0	7964	1116	39	1	1042	1	JPH3	16	87678517	Missense_Mutation	SNP	G	TCGA-B1-A657-01A-11D-A31X-10	14694112	87678517	2676236	70	14624											
KLHL11	55175	hgsc.bcm.edu	37	17	40010765	40010765	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr17:40010765T>C	ENST00000319121.3	-	2	1414	c.1354A>G	c.(1354-1356)Aaa>Gaa	p.K452E		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	452										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				AGCTTCCCTTTGACTTCTGTT	0.373																																																0													122	125	124					17																	40010765		2203	4300	6503	SO:0001583	missense	55175				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1354A>G	chr17.hg19:g.40010765T>C	ENSP00000314608:p.Lys452Glu			Missense_Mutation	SNP	ENST00000319121.3	hg19	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.630131	0.28978	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.77358	-1.09	4.73	3.62	0.41486	Galactose oxidase, beta-propeller (1);	0.051953	0.85682	D	0.000000	T	0.64616	0.2614	L	0.37507	1.11	0.53688	D	0.999976	B	0.06786	0.001	B	0.11329	0.006	T	0.54721	-0.8251	10	0.08179	T	0.78	3.0205	11.6837	0.51472	0.0:0.0:0.1485:0.8515	.	452	Q9NVR0	KLH11_HUMAN	E	452;315	ENSP00000314608:K452E	ENSP00000314608:K452E	K	-	1	0	KLHL11	37264291	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.582000	0.60957	0.901000	0.36495	0.477000	0.44152	AAA		0.373	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		C	40010765	T	C	40010765	3	2	239	1	0	0	0	0	1	0	0	0	8369	1821	63	3	776	3	KLHL11	17	40010765	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10		40010765	41184445	71	14625											
KIF18B	146909	hgsc.bcm.edu	37	17	43009571	43009571	+	Silent	SNP	C	C	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr17:43009571C>T	ENST00000593135.1	-	10	1339	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	KIF18B_ENST00000438933.2_Silent_p.Q426Q|KIF18B_ENST00000339151.4_Silent_p.Q426Q|KIF18B_ENST00000590129.1_Silent_p.Q435Q|KIF18B_ENST00000587309.1_Silent_p.Q426Q	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	435	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGGTGCAGGGCTGGCTGGGAG	0.657																																																0													18	21	20					17																	43009571		1898	4102	6000	SO:0001819	synonymous_variant	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1242G>A	chr17.hg19:g.43009571C>T			A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	hg19	CCDS45709.2																																																																																				0.657	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		T	43009571	C	T	43009571	2	4	239	1	0	0	0	0	0	0	0	1	8283	796	28	2		2	KIF18B	17	43009571	Silent	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	2998806	43009571	38185639	72	14626											
TLK2	11011	hgsc.bcm.edu	37	17	60663585	60663585	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr17:60663585C>A	ENST00000326270.9	+	17	1792	c.1524C>A	c.(1522-1524)caC>caA	p.H508Q	TLK2_ENST00000542523.1_Missense_Mutation_p.H454Q|TLK2_ENST00000582809.1_Missense_Mutation_p.H337Q|TLK2_ENST00000346027.5_Missense_Mutation_p.H486Q|TLK2_ENST00000343388.7_Missense_Mutation_p.H454Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGAATTACCACAAGTAAGTGA	0.328																																																0													33	34	33					17																	60663585		2202	4297	6499	SO:0001583	missense	11011			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1524C>A	chr17.hg19:g.60663585C>A	ENSP00000316512:p.His508Gln		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	hg19		.	.	.	.	.	.	.	.	.	.	C	8.052	0.766147	0.15983	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.45	3.48	0.39840	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62841	0.2461	N	0.26042	0.785	0.80722	D	1	D;B;B;B	0.69078	0.997;0.005;0.028;0.157	D;B;B;B	0.66351	0.943;0.037;0.064;0.166	T	0.62044	-0.6937	10	0.54805	T	0.06	-0.8054	8.4022	0.32592	0.0:0.7596:0.0:0.2404	.	508;454;486;486	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	Q	486;454;508;454	ENSP00000275780:H486Q;ENSP00000340800:H454Q;ENSP00000316512:H508Q;ENSP00000442311:H454Q	ENSP00000316512:H508Q	H	+	3	2	TLK2	58017317	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	5.818000	0.69236	0.688000	0.31529	-0.251000	0.11542	CAC		0.328	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		A	60663585	C	A	60663585	3	1	239	1	0	0	0	0	1	0	0	0	15949	477	17	4	1516	4	TLK2	17	60663585	Missense_Mutation	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	17654014	60663585	20531625	73	14627											
LPIN2	9663	hgsc.bcm.edu	37	18	2939488	2939488	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr18:2939488T>C	ENST00000261596.4	-	6	1050	c.812A>G	c.(811-813)gAg>gGg	p.E271G		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	271					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTTGGTGGACTCTGGGAATCC	0.493																																																0													125	117	120					18																	2939488		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.812A>G	chr18.hg19:g.2939488T>C	ENSP00000261596:p.Glu271Gly		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	hg19	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.103696	0.76983	.	.	ENSG00000101577	ENST00000261596	T	0.81247	-1.47	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	M	0.70595	2.14	0.80722	D	1	D	0.62365	0.991	P	0.60012	0.867	D	0.86664	0.1906	10	0.38643	T	0.18	-35.667	16.2194	0.82247	0.0:0.0:0.0:1.0	.	271	Q92539	LPIN2_HUMAN	G	271	ENSP00000261596:E271G	ENSP00000261596:E271G	E	-	2	0	LPIN2	2929488	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	7.649000	0.83500	2.234000	0.73211	0.528000	0.53228	GAG		0.493	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		C	2939488	T	C	2939488	3	2	239	1	0	0	0	0	1	0	0	0	8921	1551	54	3	1938	3	LPIN2	18	2939488	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10		2939488	75137760	74	14628											
C18orf34	374864	hgsc.bcm.edu	37	18	30992013	30992013	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr18:30992013C>T	ENST00000383096.3	-	3	222	c.40G>A	c.(40-42)Gat>Aat	p.D14N	CCDC178_ENST00000406524.2_Missense_Mutation_p.D14N|CCDC178_ENST00000579947.1_Missense_Mutation_p.D14N|CCDC178_ENST00000583930.1_Missense_Mutation_p.D14N|CCDC178_ENST00000402325.1_Missense_Mutation_p.D14N|CCDC178_ENST00000579916.1_Missense_Mutation_p.D14N|CCDC178_ENST00000403303.1_Missense_Mutation_p.D14N|CCDC178_ENST00000300227.8_Missense_Mutation_p.D14N			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	14																	GTTTGATCATCTCTAGTGGAA	0.274																																																0													43	45	44					18																	30992013		2201	4293	6494	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.40G>A	chr18.hg19:g.30992013C>T	ENSP00000372576:p.Asp14Asn		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	hg19	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	4.876	0.162801	0.09287	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.49432	2.37;2.37;2.37;2.35;2.36;0.78	3.45	1.65	0.23941	.	.	.	.	.	T	0.30262	0.0759	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.25609	0.13;0.13;0.13;0.13;0.13	B;B;B;B;B	0.24269	0.052;0.032;0.052;0.052;0.052	T	0.20605	-1.0270	9	0.48119	T	0.1	0.1645	5.6192	0.17448	0.0:0.7486:0.0:0.2514	.	14;14;14;14;14	F8W7A7;A1L4G8;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	N	14	ENSP00000385591:D14N;ENSP00000372576:D14N;ENSP00000300227:D14N;ENSP00000385867:D14N;ENSP00000385234:D14N;ENSP00000382130:D14N	ENSP00000300227:D14N	D	-	1	0	C18orf34	29246011	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.323000	0.07997	0.464000	0.27142	0.655000	0.94253	GAT		0.274	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		T	30992013	C	T	30992013	3	4	239	1	0	0	0	0	1	0	0	0	1904	913	32	2	2647	2	C18orf34	18	30992013	Missense_Mutation	SNP	C	TCGA-B1-A657-01A-11D-A31X-10	28052525	30992013	47085235	75	14629											
FBN3	84467	hgsc.bcm.edu	37	19	8183905	8183905	+	Splice_Site	SNP	G	G	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr19:8183905G>A	ENST00000600128.1	-	26	3627	c.3213C>T	c.(3211-3213)gaC>gaT	p.D1071D	FBN3_ENST00000270509.2_Splice_Site_p.D1071D|FBN3_ENST00000601739.1_Splice_Site_p.D1071D			Q75N90	FBN3_HUMAN	fibrillin 3	1071	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACTCGTCCACGTCTGAAGGTT	0.617																																																0													66	52	57					19																	8183905		2203	4300	6503	SO:0001630	splice_region_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3212-1C>T	chr19.hg19:g.8183905G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	hg19	CCDS12196.1																																																																																				0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	Silent	A	8183905	G	A	8183905	5	1	239	1	0	0	0	0	0	0	1	0	5706	1159	40	1	5372	1	FBN3	19	8183905	Splice_Site	SNP	G	TCGA-B1-A657-01A-11D-A31X-10		8183905	50945078	76	14630											
PRDX2	7001	hgsc.bcm.edu	37	19	12911694	12911694	+	Intron	SNP	T	T	C			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr19:12911694T>C	ENST00000301522.2	-	3	386				PRDX2_ENST00000334482.5_Intron|PRDX2_ENST00000435703.1_Missense_Mutation_p.K98R|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2						cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						gggtgtgagcttagctgcaac	0.572																																																0													48	45	46					19																	12911694		2197	4296	6493	SO:0001627	intron_variant	7001				CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"thioredoxin-dependent peroxide reductase 1", "thiol-specific antioxidant 1", "natural killer-enhancing factor B", "thioredoxin peroxidase 1", "torin"	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.257+35A>G	chr19.hg19:g.12911694T>C			A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	hg19	CCDS12281.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.649424	0.29336	.	.	ENSG00000167815	ENST00000435703	T	0.45668	0.89	3.3	-6.61	0.01818	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30001	-0.9993	8	0.87932	D	0	.	5.1763	0.15137	0.0:0.3936:0.2769:0.3294	.	98	A8K0C0	.	R	98	ENSP00000408905:K98R	ENSP00000408905:K98R	K	-	2	0	PRDX2	12772694	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.583000	0.05807	-1.609000	0.01585	0.379000	0.24179	AAG		0.572	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809		C	12911694	T	C	12911694	1	2	239	0	1	0	0	0	0	0	0	0	12470	1609	56	3		3	PRDX2	19	12911694	Intron	SNP	T	TCGA-B1-A657-01A-11D-A31X-10	4727789	12911694	46217289	77	14631											
FBXO46	23403	hgsc.bcm.edu	37	19	46215777	46215777	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr19:46215777A>G	ENST00000317683.3	-	2	1110	c.977T>C	c.(976-978)cTg>cCg	p.L326P		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	326										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CCTGGCCAGCAGGAACTCCAC	0.697																																																0													24	27	26					19																	46215777		1982	4149	6131	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.977T>C	chr19.hg19:g.46215777A>G	ENSP00000410007:p.Leu326Pro			Missense_Mutation	SNP	ENST00000317683.3	hg19	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.643535	0.47258	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	T	0.52789	0.1756	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51204	-0.8735	8	0.30078	T	0.28	-6.761	11.5914	0.50947	1.0:0.0:0.0:0.0	.	326	Q6PJ61	FBX46_HUMAN	P	326	.	ENSP00000410007:L326P	L	-	2	0	FBXO46	50907617	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.008000	0.63991	1.851000	0.53745	0.460000	0.39030	CTG		0.697	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		G	46215777	A	G	46215777	3	3	239	1	0	0	0	0	1	0	0	0	5757	188	7	3	838	3	FBXO46	19	46215777	Missense_Mutation	SNP	A	TCGA-B1-A657-01A-11D-A31X-10	33304083	46215777	12913206	78	14632											
DEFB118	117285	hgsc.bcm.edu	37	20	29960794	29960794	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr20:29960794G>T	ENST00000253381.2	+	2	226	c.193G>T	c.(193-195)Gtt>Ttt	p.V65F		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	65					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCACAGGCGAGTTCCTGCGAC	0.443																																																0													155	137	143					20																	29960794		2203	4300	6503	SO:0001583	missense	117285			AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"Defensins, beta"	16196	protein-coding gene	gene with protein product		607650	"chromosome 20 open reading frame 63"	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.193G>T	chr20.hg19:g.29960794G>T	ENSP00000253381:p.Val65Phe		Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	hg19	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	G	2.822	-0.244584	0.05906	.	.	ENSG00000131068	ENST00000253381	T	0.07908	3.15	3.19	-6.39	0.01951	.	7.214320	0.00397	N	0.000047	T	0.04588	0.0125	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.35201	-0.9798	10	0.15066	T	0.55	-0.7743	3.7626	0.08610	0.1823:0.2329:0.4708:0.114	.	65	Q96PH6	DB118_HUMAN	F	65	ENSP00000253381:V65F	ENSP00000253381:V65F	V	+	1	0	DEFB118	29424455	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.760000	0.00786	-2.810000	0.00348	-2.435000	0.00213	GTT		0.443	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		T	29960794	G	T	29960794	3	4	239	1	0	0	0	0	1	0	0	0	4408	1029	36	4	199	4	DEFB118	20	29960794	Missense_Mutation	SNP	G	TCGA-B1-A657-01A-11D-A31X-10		29960794	33064726	79	14633											
TPX2	22974	hgsc.bcm.edu	37	20	30388879	30388879	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr20:30388879G>T	ENST00000300403.6	+	18	2768	c.2240G>T	c.(2239-2241)tGc>tTc	p.C747F	TPX2_ENST00000340513.4_Missense_Mutation_p.C783F	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	747					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CGATTCCACTGCTAAACTCAG	0.512																																																0													123	105	111					20																	30388879		2203	4300	6503	SO:0001583	missense	22974			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.2240G>T	chr20.hg19:g.30388879G>T	ENSP00000300403:p.Cys747Phe		Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	hg19	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492479	0.64074	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.37058	1.22	5.28	5.28	0.74379	.	0.110708	0.64402	D	0.000005	T	0.59169	0.2174	M	0.63428	1.95	0.43021	D	0.994579	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.61307	-0.7089	10	0.87932	D	0	.	18.0758	0.89426	0.0:0.0:1.0:0.0	.	783;747	Q96RR5;Q9ULW0	.;TPX2_HUMAN	F	747;783	ENSP00000341145:C783F	ENSP00000300403:C747F	C	+	2	0	TPX2	29852540	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	3.773000	0.55333	2.745000	0.94114	0.655000	0.94253	TGC		0.512	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			T	30388879	G	T	30388879	3	4	239	1	0	0	0	0	1	0	0	0	16437	1319	46	4	2302	4	TPX2	20	30388879	Missense_Mutation	SNP	G	TCGA-B1-A657-01A-11D-A31X-10	428085	30388879	32636641	80	14634											
SUSD2	56241	hgsc.bcm.edu	37	22	24579518	24579518	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chr22:24579518T>A	ENST00000358321.3	+	3	604	c.343T>A	c.(343-345)Tgt>Agt	p.C115S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	115					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCAAGTGCACTGTGTGTCACC	0.632																																																0													130	114	119					22																	24579518		2203	4300	6503	SO:0001583	missense	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.343T>A	chr22.hg19:g.24579518T>A	ENSP00000351075:p.Cys115Ser		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	hg19	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.185964	0.78789	.	.	ENSG00000099994	ENST00000358321	D	0.84873	-1.91	3.5	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.78637	2.42	0.50467	D	0.999877	D	0.71674	0.998	D	0.78314	0.991	D	0.90662	0.4591	10	0.87932	D	0	-25.3814	8.8392	0.35131	0.0:0.0:0.0:1.0	.	115	Q9UGT4	SUSD2_HUMAN	S	115	ENSP00000351075:C115S	ENSP00000351075:C115S	C	+	1	0	SUSD2	22909518	1.000000	0.71417	0.993000	0.49108	0.923000	0.55619	6.119000	0.71590	1.859000	0.53934	0.369000	0.22263	TGT		0.632	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		A	24579518	T	A	24579518	3	1	239	1	0	0	0	0	1	0	0	0	15413	1580	55	5	353	5	SUSD2	22	24579518	Missense_Mutation	SNP	T	TCGA-B1-A657-01A-11D-A31X-10		24579518	26725048	81	14635											
SNX12	29934	hgsc.bcm.edu	37	X	70280928	70280928	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A657-01A-11D-A31X-10	TCGA-B1-A657-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c22d5cb0-397b-480a-97ae-4bf07e07c1f0	86a94d68-d695-416e-a19a-d1f1d0952902	g.chrX:70280928G>T	ENST00000374274.3	-	4	543	c.427C>A	c.(427-429)Cac>Aac	p.H143N	SNX12_ENST00000465030.1_5'UTR|SNX12_ENST00000276105.3_Missense_Mutation_p.H139N	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	143	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of protein transport (GO:0051224)|regulation of endocytosis (GO:0030100)	early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)	p.H143Y(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					AGGAACATGTGTAGGCAGCGT	0.517																																																1	Substitution - Missense(1)	lung(1)											104	78	87					X																	70280928		2203	4300	6503	SO:0001583	missense	29934			AF171229	CCDS14405.1, CCDS59169.1	Xq13.1	2008-03-11			ENSG00000147164	ENSG00000147164		"Sorting nexins"	14976	protein-coding gene	gene with protein product		300883					Standard	NM_013346		Approved		uc004dyr.2	Q9UMY4	OTTHUMG00000021786	ENST00000374274.3:c.427C>A	chrX.hg19:g.70280928G>T	ENSP00000363392:p.His143Asn		F8W8K5|Q8WUG9	Missense_Mutation	SNP	ENST00000374274.3	hg19	CCDS14405.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.698895	0.48307	.	.	ENSG00000147164	ENST00000374274;ENST00000276105	T;T	0.39787	1.06;1.06	5.25	5.25	0.73442	.	0.208471	0.50627	D	0.000112	T	0.66557	0.2801	M	0.79926	2.475	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.66964	-0.5790	10	0.38643	T	0.18	-19.7041	16.8073	0.85709	0.0:0.0:1.0:0.0	.	143	Q3SYF1	.	N	143;139	ENSP00000363392:H143N;ENSP00000276105:H139N	ENSP00000276105:H139N	H	-	1	0	SNX12	70197653	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.653000	0.98506	2.434000	0.82447	0.594000	0.82650	CAC		0.517	SNX12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057094.1	NM_013346		T	70280928	G	T	70280928	3	4	239	1	0	0	0	0	1	0	0	0	14889	1377	48	4	65	4	SNX12	23	70280928	Missense_Mutation	SNP	G	TCGA-B1-A657-01A-11D-A31X-10		70280928	84989632	82	14636											
ADAM30	11085	broad.mit.edu	37	1	120438863	120438863	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr1:120438863G>A	ENST00000369400.1	-	1	255	c.97C>T	c.(97-99)Cac>Tac	p.H33Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	33					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTTCAGGGTGAAAAATTACA	0.512																																																0													58	58	58					1																	120438863		2203	4300	6503	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.97C>T	1.37:g.120438863G>A	ENSP00000358407:p.His33Tyr		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359884	0.24598	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01165	5.24	4.6	2.5	0.30297	.	0.571105	0.14533	N	0.313714	T	0.00384	0.0012	N	0.19112	0.55	0.09310	N	1	P	0.48834	0.916	B	0.41412	0.356	T	0.54146	-0.8337	10	0.41790	T	0.15	.	7.0697	0.25171	0.0:0.266:0.5609:0.173	.	33	Q9UKF2	ADA30_HUMAN	Y	33	ENSP00000358407:H33Y	ENSP00000358407:H33Y	H	-	1	0	ADAM30	120240386	0.076000	0.21285	0.146000	0.22360	0.061000	0.15899	2.711000	0.47177	1.041000	0.40125	0.455000	0.32223	CAC		0.512	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		A	120438863	G	A	120438863	3	1	240	1	0	0	0	0	1	0	0	0	248	1290	45	2	2279	2	ADAM30	1	120438863	Missense_Mutation	SNP	G	TCGA-B2-3923-01A-01D-1458-08		120438863	128811758	1	14637											
C3orf20	84077	broad.mit.edu	37	3	14731559	14731559	+	Silent	SNP	C	C	T			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr3:14731559C>T	ENST00000253697.3	+	5	1133	c.681C>T	c.(679-681)taC>taT	p.Y227Y	C3orf20_ENST00000412910.1_Silent_p.Y105Y|C3orf20_ENST00000435614.1_Silent_p.Y105Y	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	227						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGCTGATCTACCACTCTTCCA	0.468																																																0													102	100	101					3																	14731559		2203	4300	6503	SO:0001819	synonymous_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.681C>T	3.37:g.14731559C>T			Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	CCDS33706.1																																																																																				0.468	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		T	14731559	C	T	14731559	2	4	240	1	0	0	0	0	0	0	0	1	2215	518	18	2		2	C3orf20	3	14731559	Silent	SNP	C	TCGA-B2-3923-01A-01D-1458-08		14731559	183290871	2	14638											
NGLY1	55768	broad.mit.edu	37	3	25761622	25761622	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr3:25761622C>A	ENST00000280700.5	-	11	1832	c.1672G>T	c.(1672-1674)Ggg>Tgg	p.G558W	NGLY1_ENST00000396649.3_Intron|NGLY1_ENST00000417874.2_Missense_Mutation_p.G516W|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.G540W	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	558	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CCAACTGACCCACACTCAAAC	0.398																																																0													95	91	92					3																	25761622		2203	4300	6503	SO:0001583	missense	55768			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1672G>T	3.37:g.25761622C>A	ENSP00000280700:p.Gly558Trp		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782415	0.70222	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.79	5.79	0.91817	Peptide N glycanase, PAW domain (2);Galactose-binding domain-like (1);	0.470727	0.24267	N	0.040031	T	0.49389	0.1554	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.989;0.999;0.999	P;D;P	0.63488	0.791;0.915;0.813	T	0.46317	-0.9200	10	0.87932	D	0	-11.7942	13.6908	0.62544	0.0:0.9205:0.0:0.0795	.	516;540;558	B4DJE9;Q96IV0-2;Q96IV0	.;.;NGLY1_HUMAN	W	540;558;537;516	ENSP00000387430:G540W;ENSP00000280700:G558W;ENSP00000307980:G537W;ENSP00000389888:G516W	ENSP00000280700:G558W	G	-	1	0	NGLY1	25736626	1.000000	0.71417	0.999000	0.59377	0.691000	0.40173	3.686000	0.54685	2.750000	0.94351	0.563000	0.77884	GGG		0.398	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			A	25761622	C	A	25761622	3	1	240	1	0	0	0	0	1	0	0	0	10400	594	21	4	300	4	NGLY1	3	25761622	Missense_Mutation	SNP	C	TCGA-B2-3923-01A-01D-1458-08	11030063	25761622	172260808	3	14639											
SMARCA5	8467	broad.mit.edu	37	4	144457701	144457701	+	Silent	SNP	A	A	G			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr4:144457701A>G	ENST00000283131.3	+	11	1827	c.1365A>G	c.(1363-1365)aaA>aaG	p.K455K		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	455					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AGTTGAGAAAATGTTGTAATC	0.373																																																0													114	108	110					4																	144457701		2203	4300	6503	SO:0001819	synonymous_variant	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1365A>G	4.37:g.144457701A>G				Silent	SNP	ENST00000283131.3	37	CCDS3761.1																																																																																				0.373	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			G	144457701	A	G	144457701	2	3	240	1	0	0	0	0	0	0	0	1	14777	98	4	3		3	SMARCA5	4	144457701	Silent	SNP	A	TCGA-B2-3923-01A-01D-1458-08		144457701	46696575	4	14640											
PJA2	9867	broad.mit.edu	37	5	108698654	108698654	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr5:108698654A>C	ENST00000361189.2	-	6	1778	c.1539T>G	c.(1537-1539)agT>agG	p.S513R	PJA2_ENST00000361557.3_Missense_Mutation_p.S513R	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	513					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TTCCCTCATCACTGCTGCTTT	0.408																																																0													182	180	181					5																	108698654		2202	4300	6502	SO:0001583	missense	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1539T>G	5.37:g.108698654A>C	ENSP00000354775:p.Ser513Arg		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752627	0.69533	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.06687	3.27;3.27	5.15	0.172	0.15031	.	0.065021	0.64402	D	0.000005	T	0.20088	0.0483	M	0.64404	1.975	0.41749	D	0.98965	D	0.89917	1.0	D	0.77557	0.99	T	0.00320	-1.1820	10	0.49607	T	0.09	-19.0396	8.9562	0.35818	0.6141:0.0:0.3859:0.0	.	513	O43164	PJA2_HUMAN	R	513	ENSP00000354775:S513R;ENSP00000355284:S513R	ENSP00000354775:S513R	S	-	3	2	PJA2	108726553	0.998000	0.40836	0.998000	0.56505	0.992000	0.81027	0.582000	0.23834	-0.094000	0.12374	0.383000	0.25322	AGT		0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		C	108698654	A	C	108698654	3	2	240	1	0	0	0	0	1	0	0	0	11964	156	6	5	607	5	PJA2	5	108698654	Missense_Mutation	SNP	A	TCGA-B2-3923-01A-01D-1458-08		108698654	72216606	5	14641											
HYAL4	23553	broad.mit.edu	37	7	123516948	123516948	+	Silent	SNP	C	C	T			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr7:123516948C>T	ENST00000223026.4	+	5	1823	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	HYAL4_ENST00000476325.1_Silent_p.P395P	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	395					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GGAACGCGCCCAGTTACCTTC	0.512																																																0													138	127	131					7																	123516948		2203	4300	6503	SO:0001819	synonymous_variant	23553			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1185C>T	7.37:g.123516948C>T			D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	CCDS5789.1																																																																																				0.512	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		T	123516948	C	T	123516948	2	4	240	1	0	0	0	0	0	0	0	1	7468	581	21	2		2	HYAL4	7	123516948	Silent	SNP	C	TCGA-B2-3923-01A-01D-1458-08		123516948	35621715	6	14642											
TSGA13	114960	broad.mit.edu	37	7	130357610	130357610	+	Missense_Mutation	SNP	G	G	A	rs199718973		TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr7:130357610G>A	ENST00000456951.1	-	7	1345	c.494C>T	c.(493-495)tCg>tTg	p.S165L	TSGA13_ENST00000356588.3_Missense_Mutation_p.S165L			Q96PP4	TSG13_HUMAN	testis specific, 13	165										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GGGATCATCCGACAGTATCAA	0.433													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22491	0.0		0.0	False		,,,				2504	0.0															0								G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	191	179	183		494	-4	0	7		183	0,8600		0,0,4300	no	missense	TSGA13	NM_052933.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	165/276	130357610	1,13005	2203	4300	6503	SO:0001583	missense	114960			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.494C>T	7.37:g.130357610G>A	ENSP00000406047:p.Ser165Leu		B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	CCDS5824.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	4.893	0.165967	0.09339	2.27E-4	0.0	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.52	-4.03	0.04021	.	1.564820	0.04084	N	0.310093	T	0.11965	0.0291	N	0.02247	-0.625	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24584	-1.0156	9	0.07325	T	0.83	2.2619	5.5701	0.17192	0.5012:0.2464:0.2525:0.0	.	165	Q96PP4	TSG13_HUMAN	L	165	.	ENSP00000348996:S165L	S	-	2	0	TSGA13	130008150	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.150000	0.10189	-0.457000	0.07033	-1.788000	0.00630	TCG		0.433	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		A	130357610	G	A	130357610	3	1	240	1	0	0	0	0	1	0	0	0	16624	1059	37	1	345	1	TSGA13	7	130357610	Missense_Mutation	SNP	G	TCGA-B2-3923-01A-01D-1458-08	6840662	130357610	28781053	7	14643											
GLDC	2731	broad.mit.edu	37	9	6592871	6592871	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr9:6592871G>A	ENST00000321612.6	-	10	1531	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	461					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TCAAAAAGCCGAAAATTGATC	0.403																																																0													62	64	64					9																	6592871		2203	4300	6503	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1381C>T	9.37:g.6592871G>A	ENSP00000370737:p.Arg461Trp		Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571083	0.65765	.	.	ENSG00000178445	ENST00000321612	D	0.95918	-3.85	5.74	4.82	0.62117	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98331	1.0533	10	0.87932	D	0	-21.0009	13.3474	0.60582	0.0:0.0:0.5939:0.4061	.	461	P23378	GCSP_HUMAN	W	461	ENSP00000370737:R461W	ENSP00000370737:R461W	R	-	1	2	GLDC	6582871	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	4.304000	0.59104	1.383000	0.46405	0.563000	0.77884	CGG		0.403	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		A	6592871	G	A	6592871	3	1	240	1	0	0	0	0	1	0	0	0	6435	1057	37	1	1745	1	GLDC	9	6592871	Missense_Mutation	SNP	G	TCGA-B2-3923-01A-01D-1458-08		6592871	134620560	8	14644											
SLC24A2	25769	broad.mit.edu	37	9	19520958	19520960	+	In_Frame_Del	DEL	CGG	CGG	-	rs575461406		TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr9:19520958_19520960delCGG	ENST00000341998.2	-	9	1729_1731	c.1668_1670delCCG	c.(1666-1671)gcccgg>gcg	p.R557del	SLC24A2_ENST00000286344.3_In_Frame_Del_p.R540del	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	557					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TAACCCCTTCCGGGCCACTATGA	0.507																																																0																																										SO:0001651	inframe_deletion	25769			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1668_1670delCCG	9.37:g.19520958_19520960delCGG	ENSP00000344801:p.Arg557del		B7ZLL8|Q9NTN5|Q9NZQ4	In_Frame_Del	DEL	ENST00000341998.2	37	CCDS6493.1																																																																																				0.507	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		-	19520960	CGG	-	19520958	7	5	240	1	0	1	0	1	0	0	0	0	14472	652	23	0	323	0	SLC24A2	9	19520958	In_Frame_Del	DEL	CGG	TCGA-B2-3923-01A-01D-1458-08	12928087	19520958	121692473	9	14645											
AKAP2	11217	broad.mit.edu	37	9	112899854	112899854	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr9:112899854T>C	ENST00000259318.7	+	2	1544	c.1337T>C	c.(1336-1338)gTg>gCg	p.V446A	AKAP2_ENST00000510514.5_Missense_Mutation_p.V677A|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V677A|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.V677A|AKAP2_ENST00000555236.1_Missense_Mutation_p.V677A|AKAP2_ENST00000434623.2_Missense_Mutation_p.V535A|AKAP2_ENST00000374525.1_Missense_Mutation_p.V535A	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	446										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GTCCTCACTGTGGTCAAGGAT	0.527																																																0													104	103	104					9																	112899854		2203	4300	6503	SO:0001583	missense	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1337T>C	9.37:g.112899854T>C	ENSP00000259318:p.Val446Ala		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477929	0.63849	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.58358	1.68;1.69;1.68;1.69;0.93;0.35;0.34;0.97	5.86	4.73	0.59995	.	0.117488	0.56097	N	0.000027	T	0.54287	0.1849	L	0.29908	0.895	0.42876	D	0.994155	D;D;P;D;D;B;B;B	0.67145	0.986;0.996;0.893;0.992;0.986;0.021;0.021;0.007	P;P;B;P;P;B;B;B	0.57776	0.668;0.827;0.446;0.719;0.528;0.009;0.009;0.004	T	0.57376	-0.7822	10	0.66056	D	0.02	-22.4039	10.9007	0.47049	0.0:0.073:0.0:0.927	.	446;535;529;535;536;677;677;495	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	A	677;677;677;677;535;535;495;446	ENSP00000363654:V677A;ENSP00000305861:V677A;ENSP00000451476:V677A;ENSP00000421522:V677A;ENSP00000404782:V535A;ENSP00000363649:V535A;ENSP00000419268:V495A;ENSP00000259318:V446A	ENSP00000259318:V446A	V	+	2	0	PALM2-AKAP2;AKAP2	111939675	1.000000	0.71417	0.992000	0.48379	0.885000	0.51271	5.727000	0.68523	1.044000	0.40200	0.533000	0.62120	GTG		0.527	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		C	112899854	T	C	112899854	3	2	240	1	0	0	0	0	1	0	0	0	451	1696	59	3	1610	3	AKAP2	9	112899854	Missense_Mutation	SNP	T	TCGA-B2-3923-01A-01D-1458-08	93378896	112899854	28313577	10	14646											
CCKBR	887	broad.mit.edu	37	11	6292569	6292569	+	Silent	SNP	C	C	T	rs138218747	byFrequency	TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr11:6292569C>T	ENST00000334619.2	+	5	1333	c.1140C>T	c.(1138-1140)taC>taT	p.Y380Y	CCKBR_ENST00000525462.1_Silent_p.Y449Y|CCKBR_ENST00000532715.1_Silent_p.Y296Y	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	380					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCTGAGCTACGCCTCGGCCT	0.622													T|||	2	0.000399361	0.0015	0.0	5008	,	,		17965	0.0		0.0	False		,,,				2504	0.0															0								T		8,4394	825.1+/-416.5	0,8,2193	141	116	124		1140	-3.4	0.5	11	dbSNP_134	124	0,8592		0,0,4296	no	coding-synonymous	CCKBR	NM_176875.2		0,8,6489	TT,TC,CC		0.0,0.1817,0.0616		380/448	6292569	8,12986	2201	4296	6497	SO:0001819	synonymous_variant	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.1140C>T	11.37:g.6292569C>T			A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	CCDS7761.1																																																																																				0.622	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		T	6292569	C	T	6292569	2	4	240	1	0	0	0	0	0	0	0	1	2883	547	19	1		1	CCKBR	11	6292569	Silent	SNP	C	TCGA-B2-3923-01A-01D-1458-08		6292569	128713947	11	14647											
SCUBE2	57758	broad.mit.edu	37	11	9077430	9077430	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr11:9077430T>A	ENST00000309263.3	-	10	1189	c.1117A>T	c.(1117-1119)Acc>Tcc	p.T373S	SCUBE2_ENST00000450649.2_Missense_Mutation_p.T373S|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.T373S|SCUBE2_ENST00000457346.2_Missense_Mutation_p.T373S|RP11-467K18.2_ENST00000521394.2_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	373	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGGTCACAGGTCCTATCCAAA	0.502																																																0													225	193	204					11																	9077430		2201	4296	6497	SO:0001583	missense	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1117A>T	11.37:g.9077430T>A	ENSP00000310658:p.Thr373Ser		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	T	17.91	3.505328	0.64410	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91	5.86	5.86	0.93980	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.044686	0.85682	D	0.000000	D	0.91099	0.7198	N	0.20610	0.595	0.54753	D	0.999981	D;P;P	0.58268	0.982;0.929;0.854	D;P;P	0.63597	0.916;0.702;0.803	D	0.89785	0.3964	10	0.30078	T	0.28	.	12.0759	0.53643	0.0:0.0684:0.0:0.9316	.	373;373;373	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	S	373	ENSP00000390481:T373S;ENSP00000310658:T373S;ENSP00000415187:T373S;ENSP00000429969:T373S	ENSP00000310658:T373S	T	-	1	0	SCUBE2	9034006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.977000	0.70492	2.237000	0.73441	0.460000	0.39030	ACC		0.502	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		A	9077430	T	A	9077430	3	1	240	1	0	0	0	0	1	0	0	0	13951	1667	58	5	2025	5	SCUBE2	11	9077430	Missense_Mutation	SNP	T	TCGA-B2-3923-01A-01D-1458-08	2784861	9077430	125929086	12	14648											
USP15	9958	broad.mit.edu	37	12	62708660	62708662	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr12:62708660_62708662delTGT	ENST00000280377.5	+	4	496_498	c.438_440delTGT	c.(436-441)aatgtt>aat	p.V148del	USP15_ENST00000312635.6_In_Frame_Del_p.V148del|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_In_Frame_Del_p.V148del|USP15_ENST00000353364.3_In_Frame_Del_p.V148del	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	148					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACATGAATAATGTTGTAACTCGA	0.315																																					Melanoma(181;615 2041 39364 49691 50001)											0																																										SO:0001651	inframe_deletion	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.438_440delTGT	12.37:g.62708663_62708665delTGT	ENSP00000280377:p.Val148del		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	In_Frame_Del	DEL	ENST00000280377.5	37	CCDS58251.1																																																																																				0.315	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		-	62708662	TGT	-	62708660	7	5	240	1	0	1	0	1	0	0	0	0	17051	1461	51	0	452	0	USP15	12	62708660	In_Frame_Del	DEL	TGT	TCGA-B2-3923-01A-01D-1458-08		62708660	71143235	13	14649											
SUCLA2	8803	broad.mit.edu	37	13	48528324	48528324	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr13:48528324G>A	ENST00000378654.3	-	8	1114	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	SUCLA2_ENST00000543413.1_Missense_Mutation_p.T295I|SUCLA2_ENST00000544100.1_Missense_Mutation_p.T219I|SUCLA2_ENST00000534875.1_Missense_Mutation_p.T295I	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	353					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTGATGGACTGTAGCACCACC	0.358																																																0													64	65	65					13																	48528324		2203	4300	6503	SO:0001583	missense	8803			AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.1058C>T	13.37:g.48528324G>A	ENSP00000367923:p.Thr353Ile		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.112079	0.77210	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.48	5.48	0.80851	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94420	0.7640	10	0.87932	D	0	-23.1428	18.692	0.91586	0.0:0.0:1.0:0.0	.	353	Q9P2R7	SUCB1_HUMAN	I	353;331;283;219;295;295;181;283	ENSP00000367923:T353I;ENSP00000443412:T219I;ENSP00000438182:T295I;ENSP00000441056:T295I;ENSP00000392771:T283I	ENSP00000367909:T283I	T	-	2	0	SUCLA2	47426325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.503000	0.81632	2.736000	0.93811	0.555000	0.69702	ACA		0.358	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			A	48528324	G	A	48528324	3	1	240	1	0	0	0	0	1	0	0	0	15368	1377	48	2	349	2	SUCLA2	13	48528324	Missense_Mutation	SNP	G	TCGA-B2-3923-01A-01D-1458-08		48528324	66641554	14	14650											
AHSA1	10598	broad.mit.edu	37	14	77935516	77935516	+	Missense_Mutation	SNP	G	G	T	rs200120741	byFrequency	TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr14:77935516G>T	ENST00000216479.3	+	9	1101	c.941G>T	c.(940-942)cGg>cTg	p.R314L	SNORA46_ENST00000391069.1_RNA|AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	314					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGGAAGAGCGGACGCGACAG	0.577																																																0													173	160	164					14																	77935516		2203	4300	6503	SO:0001583	missense	10598			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.941G>T	14.37:g.77935516G>T	ENSP00000216479:p.Arg314Leu		B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	CCDS9863.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443833	0.63067	.	.	ENSG00000100591	ENST00000555133;ENST00000216479;ENST00000557476	T	0.44881	0.91	5.46	4.58	0.56647	START-like domain (1);	0.052426	0.85682	D	0.000000	T	0.59945	0.2231	M	0.79011	2.435	0.80722	D	1	D	0.58970	0.984	P	0.59703	0.862	T	0.61078	-0.7135	10	0.31617	T	0.26	-15.1909	14.346	0.66665	0.0709:0.0:0.9291:0.0	.	314	O95433	AHSA1_HUMAN	L	179;314;96	ENSP00000451474:R96L	ENSP00000216479:R314L	R	+	2	0	AHSA1	77005269	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.985000	0.49362	1.547000	0.49401	0.591000	0.81541	CGG		0.577	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		T	77935516	G	T	77935516	3	4	240	1	0	0	0	0	1	0	0	0	418	1116	39	4	975	4	AHSA1	14	77935516	Missense_Mutation	SNP	G	TCGA-B2-3923-01A-01D-1458-08		77935516	29414024	15	14651											
TMC3	342125	broad.mit.edu	37	15	81637115	81637115	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr15:81637115C>T	ENST00000359440.5	-	13	1645	c.1510G>A	c.(1510-1512)Gtt>Att	p.V504I	TMC3_ENST00000558726.1_Missense_Mutation_p.V505I|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACCTGACCAACGTATGTCTCC	0.478																																																0													83	81	82					15																	81637115		1973	4149	6122	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1510G>A	15.37:g.81637115C>T	ENSP00000352413:p.Val504Ile			Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354015	0.82243	.	.	ENSG00000188869	ENST00000359440	T	0.67865	-0.29	4.37	4.37	0.52481	.	0.142711	0.46758	D	0.000261	T	0.70413	0.3221	L	0.58101	1.795	0.58432	D	0.99999	P;P	0.51537	0.733;0.946	B;P	0.50490	0.292;0.642	T	0.72567	-0.4254	10	0.44086	T	0.13	-25.8454	15.3008	0.73949	0.0:1.0:0.0:0.0	.	504;504	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	I	504	ENSP00000352413:V504I	ENSP00000352413:V504I	V	-	1	0	TMC3	79424170	1.000000	0.71417	0.930000	0.37139	0.803000	0.45373	6.585000	0.74062	2.244000	0.73946	0.655000	0.94253	GTT		0.478	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		T	81637115	C	T	81637115	3	4	240	1	0	0	0	0	1	0	0	0	15991	536	19	1	1832	1	TMC3	15	81637115	Missense_Mutation	SNP	C	TCGA-B2-3923-01A-01D-1458-08		81637115	20894277	16	14652											
GAN	8139	broad.mit.edu	37	16	81391531	81391531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr16:81391531C>A	ENST00000568107.2	+	5	1130	c.968C>A	c.(967-969)tCa>tAa	p.S323*		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	323					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GGAGTTCTCTCAGCAGGTACC	0.448																																					GBM(106;1239 1507 7582 9741 33976)											0													104	88	93					16																	81391531		2202	4300	6502	SO:0001587	stop_gained	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.968C>A	16.37:g.81391531C>A	ENSP00000476795:p.Ser323*			Nonsense_Mutation	SNP	ENST00000568107.2	37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	40	8.059063	0.98632	.	.	ENSG00000127688	ENST00000248272	.	.	.	5.74	5.74	0.90152	.	0.461885	0.24732	N	0.036048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	19.9145	0.97053	0.0:1.0:0.0:0.0	.	.	.	.	X	323	.	ENSP00000248272:S323X	S	+	2	0	GAN	79949032	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.435000	0.80391	2.707000	0.92482	0.557000	0.71058	TCA		0.448	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			A	81391531	C	A	81391531	4	1	240	1	0	0	0	0	0	1	0	0	6234	838	29	4	986	4	GAN	16	81391531	Nonsense_Mutation	SNP	C	TCGA-B2-3923-01A-01D-1458-08		81391531	8963222	17	14653											
TRPM4	54795	broad.mit.edu	37	19	49669420	49669420	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr19:49669420C>A	ENST00000252826.5	+	3	341	c.215C>A	c.(214-216)aCc>aAc	p.T72N	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.T72N	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	72					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GAGAAGCCCACCGATGCCTAC	0.716																																																0													32	28	29					19																	49669420		2200	4298	6498	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.215C>A	19.37:g.49669420C>A	ENSP00000252826:p.Thr72Asn		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904245	0.92035	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.70164	-0.46;-0.46	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000002	D	0.84745	0.5540	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.87718	0.2571	10	0.72032	D	0.01	-19.7125	17.4481	0.87584	0.0:1.0:0.0:0.0	.	72;72	Q8TD43-3;Q8TD43	.;TRPM4_HUMAN	N	72	ENSP00000252826:T72N;ENSP00000407492:T72N	ENSP00000252826:T72N	T	+	2	0	TRPM4	54361232	1.000000	0.71417	0.949000	0.38748	0.841000	0.47740	5.467000	0.66737	2.493000	0.84123	0.561000	0.74099	ACC		0.716	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		A	49669420	C	A	49669420	3	1	240	1	0	0	0	0	1	0	0	0	16593	507	18	4	225	4	TRPM4	19	49669420	Missense_Mutation	SNP	C	TCGA-B2-3923-01A-01D-1458-08		49669420	9459563	18	14654											
FERMT1	55612	broad.mit.edu	37	20	6060186	6060186	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr20:6060186G>A	ENST00000217289.4	-	14	2545	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.S329L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	586	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCTGTTATATGAAACTCCCAG	0.363																																																0													121	116	118					20																	6060186		2203	4300	6503	SO:0001583	missense	55612			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1757C>T	20.37:g.6060186G>A	ENSP00000217289:p.Ser586Leu		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281547	0.59758	.	.	ENSG00000101311	ENST00000217289;ENST00000536936	T;T	0.78126	-1.15;-1.15	5.44	5.44	0.79542	Pleckstrin homology-type (1);	0.057971	0.64402	D	0.000001	T	0.79845	0.4516	M	0.75447	2.3	0.80722	D	1	B	0.27068	0.167	B	0.26094	0.066	T	0.79120	-0.1934	10	0.87932	D	0	-46.2934	19.2496	0.93919	0.0:0.0:1.0:0.0	.	586	Q9BQL6	FERM1_HUMAN	L	586;329	ENSP00000217289:S586L;ENSP00000441063:S329L	ENSP00000217289:S586L	S	-	2	0	FERMT1	6008186	1.000000	0.71417	0.929000	0.37066	0.332000	0.28634	9.813000	0.99286	2.554000	0.86153	0.462000	0.41574	TCA		0.363	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		A	6060186	G	A	6060186	3	1	240	1	0	0	0	0	1	0	0	0	5819	1294	45	2	284	2	FERMT1	20	6060186	Missense_Mutation	SNP	G	TCGA-B2-3923-01A-01D-1458-08		6060186	56965334	19	14655											
DOPEY2	9980	broad.mit.edu	37	21	37653832	37653832	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chr21:37653832T>C	ENST00000399151.3	+	32	6168	c.6083T>C	c.(6082-6084)aTg>aCg	p.M2028T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2028					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGAAAGCCATGCTGTTAAAG	0.393																																																0													88	88	88					21																	37653832		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6083T>C	21.37:g.37653832T>C	ENSP00000382104:p.Met2028Thr		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050420	0.75960	.	.	ENSG00000142197	ENST00000399151	T	0.40225	1.04	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.989	T	0.64149	-0.6475	10	0.24483	T	0.36	-26.7126	15.3177	0.74095	0.0:0.0:0.0:1.0	.	2021;2028	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	T	2028	ENSP00000382104:M2028T	ENSP00000382104:M2028T	M	+	2	0	DOPEY2	36575702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.579000	0.82511	2.020000	0.59435	0.533000	0.62120	ATG		0.393	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		C	37653832	T	C	37653832	3	2	240	1	0	0	0	0	1	0	0	0	4710	1464	51	3	6205	3	DOPEY2	21	37653832	Missense_Mutation	SNP	T	TCGA-B2-3923-01A-01D-1458-08		37653832	10476063	20	14656											
NUP62CL	54830	broad.mit.edu	37	X	106397335	106397335	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chrX:106397335A>C	ENST00000372466.4	-	5	587	c.336T>G	c.(334-336)aaT>aaG	p.N112K	NUP62CL_ENST00000372461.3_Intron	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	112					protein transport (GO:0015031)	nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			lung(4)	4						CCATCTCACCATTCTCAATCA	0.378																																																0													100	86	91					X																	106397335		2203	4300	6503	SO:0001583	missense	54830			AK000137	CCDS14527.1	Xq22.3	2008-02-05			ENSG00000198088	ENSG00000198088			25960	protein-coding gene	gene with protein product						12477932	Standard	NM_017681		Approved	FLJ20130	uc004ena.3	Q9H1M0	OTTHUMG00000022159	ENST00000372466.4:c.336T>G	X.37:g.106397335A>C	ENSP00000361544:p.Asn112Lys		D3DUX4|Q8WVL6|Q9NXP2	Missense_Mutation	SNP	ENST00000372466.4	37	CCDS14527.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.58|13.58	2.280545|2.280545	0.40294|0.40294	.|.	.|.	ENSG00000198088|ENSG00000198088	ENST00000372466;ENST00000372465;ENST00000421752|ENST00000432145	D;D|.	0.81908|.	-1.55;-1.55|.	5.81|5.81	3.34|3.34	0.38264|0.38264	Nucleoporin, NSP1-like, C-terminal (2);|.	0.085375|.	0.85682|.	D|.	0.000000|.	T|T	0.78444|0.78444	0.4284|0.4284	M|M	0.92784|0.92784	3.345|3.345	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|T	0.77851|0.77851	-0.2434|-0.2434	10|5	0.59425|.	D|.	0.04|.	-14.7723|-14.7723	8.1594|8.1594	0.31190|0.31190	0.8307:0.0:0.1693:0.0|0.8307:0.0:0.1693:0.0	.|.	112|.	Q9H1M0|.	N62CL_HUMAN|.	K|G	112|44	ENSP00000361544:N112K;ENSP00000405906:N112K|.	ENSP00000361543:N112K|.	N|W	-|-	3|1	2|0	NUP62CL|NUP62CL	106283991|106283991	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.162000|0.162000	0.22319|0.22319	2.384000|2.384000	0.44362|0.44362	0.282000|0.282000	0.22254|0.22254	0.425000|0.425000	0.28330|0.28330	AAT|TGG		0.378	NUP62CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057828.1	NM_017681		C	106397335	A	C	106397335	3	2	240	1	0	0	0	0	1	0	0	0	10771	214	8	5	234	5	NUP62CL	23	106397335	Missense_Mutation	SNP	A	TCGA-B2-3923-01A-01D-1458-08		106397335	48873225	21	14657											
DCAF12L2	340578	broad.mit.edu	37	X	125299313	125299313	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3923-01A-01D-1458-08	TCGA-B2-3923-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4	d7f13006-b937-472c-a6cb-5dd7104e7a2f	g.chrX:125299313C>T	ENST00000360028.2	-	1	621	c.595G>A	c.(595-597)Gca>Aca	p.A199T	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A199T			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	199										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGGCGACTGCGAAGATCCAG	0.652																																																0													44	48	46					X																	125299313		2203	4299	6502	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.595G>A	X.37:g.125299313C>T	ENSP00000353128:p.Ala199Thr		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	6.953	0.545741	0.13312	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.61510	0.1;0.1	3.87	-0.26	0.12967	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.234300	0.06285	N	0.698082	T	0.50120	0.1597	M	0.62723	1.935	0.26532	N	0.974234	B	0.24043	0.096	B	0.16722	0.016	T	0.41448	-0.9508	10	0.51188	T	0.08	.	3.4144	0.07371	0.5076:0.2593:0.0:0.233	.	199	Q5VW00	DC122_HUMAN	T	199	ENSP00000441489:A199T;ENSP00000353128:A199T	ENSP00000353128:A199T	A	-	1	0	DCAF12L2	125126994	0.958000	0.32768	0.323000	0.25347	0.070000	0.16714	1.070000	0.30653	-0.196000	0.10366	-0.330000	0.08379	GCA		0.652	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		T	125299313	C	T	125299313	3	4	240	1	0	0	0	0	1	0	0	0	4267	768	27	1	800	1	DCAF12L2	23	125299313	Missense_Mutation	SNP	C	TCGA-B2-3923-01A-01D-1458-08	18901978	125299313	29971247	22	14658											
DENND2C	163259	broad.mit.edu;hgsc.bcm.edu	37	1	115166246	115166246	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:115166246C>A	ENST00000393274.1	-	5	1450	c.825G>T	c.(823-825)gaG>gaT	p.E275D	DENND2C_ENST00000393277.1_Missense_Mutation_p.E275D|DENND2C_ENST00000393276.3_Missense_Mutation_p.E275D|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	275					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E275D(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGAATATCCTCAAATTCAA	0.289																																																1	Substitution - Missense(1)	kidney(1)											67	65	66					1																	115166246		2202	4300	6502	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.825G>T	1.37:g.115166246C>A	ENSP00000376955:p.Glu275Asp		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942236	0.73672	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.50813	1.03;2.71;0.73	6.06	-0.516	0.11950	.	0.123171	0.56097	D	0.000031	T	0.55673	0.1935	M	0.80332	2.49	0.44611	D	0.997581	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.63088	-0.6715	10	0.87932	D	0	.	10.4276	0.44387	0.0:0.4999:0.0:0.5001	.	275;275	Q68D51;Q68D51-3	DEN2C_HUMAN;.	D	275	ENSP00000376957:E275D;ENSP00000376955:E275D;ENSP00000376958:E275D	ENSP00000358553:E275D	E	-	3	2	DENND2C	114967769	0.999000	0.42202	0.999000	0.59377	0.996000	0.88848	0.331000	0.19733	0.084000	0.17077	-0.150000	0.13652	GAG		0.289	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		A	115166246	C	A	115166246	3	1	241	1	0	0	0	0	1	0	0	0	4432	680	24	4	1854	4	DENND2C	1	115166246	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-01D-1458-08		115166246	134084375	1	14659											
PGLYRP3	114771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153277480	153277480	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:153277480G>C	ENST00000290722.1	-	3	371	c.319C>G	c.(319-321)Cac>Gac	p.H107D		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	107					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.H107D(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTGGGTGTGCAAGCCTTGG	0.498																																																1	Substitution - Missense(1)	kidney(1)											184	148	161					1																	153277480		2203	4300	6503	SO:0001583	missense	114771			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.319C>G	1.37:g.153277480G>C	ENSP00000290722:p.His107Asp		A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.549798	0.65311	.	.	ENSG00000159527	ENST00000290722	T	0.26518	1.73	4.29	4.29	0.51040	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.50627	D	0.000115	T	0.54886	0.1886	H	0.97265	3.97	0.30640	N	0.756588	D	0.71674	0.998	D	0.72982	0.979	T	0.65191	-0.6228	10	0.87932	D	0	-16.5904	12.1073	0.53820	0.0:0.0:1.0:0.0	.	107	Q96LB9	PGRP3_HUMAN	D	107	ENSP00000290722:H107D	ENSP00000290722:H107D	H	-	1	0	PGLYRP3	151544104	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.824000	0.55723	2.203000	0.70933	0.557000	0.71058	CAC		0.498	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		C	153277480	G	C	153277480	3	2	241	1	0	0	0	0	1	0	0	0	11797	1319	46	4	726	4	PGLYRP3	1	153277480	Missense_Mutation	SNP	G	TCGA-B2-3924-01A-01D-1458-08	38111234	153277480	95973141	2	14660											
SELP	6403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169566355	169566355	+	Missense_Mutation	SNP	G	G	T	rs370194750		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:169566355G>T	ENST00000263686.6	-	11	1802	c.1765C>A	c.(1765-1767)Cgt>Agt	p.R589S	SELP_ENST00000367793.2_Missense_Mutation_p.R527S|SELP_ENST00000367786.2_Missense_Mutation_p.R527S|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.R527S|SELP_ENST00000367788.2_Missense_Mutation_p.R527S|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	589	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.R589S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AATTCTCCACGAGTGTCAGAA	0.473																																																1	Substitution - Missense(1)	kidney(1)											61	63	62					1																	169566355		2203	4300	6503	SO:0001583	missense	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1765C>A	1.37:g.169566355G>T	ENSP00000263686:p.Arg589Ser		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	2.438	-0.329242	0.05314	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.13	3.18	0.36537	Complement control module (2);Sushi/SCR/CCP (3);	0.947971	0.08739	N	0.900902	T	0.32585	0.0834	N	0.05383	-0.06	0.09310	N	0.999999	B;B;B	0.29212	0.237;0.207;0.083	B;B;B	0.31946	0.138;0.138;0.054	T	0.28964	-1.0027	10	0.22109	T	0.4	-0.0506	7.0458	0.25044	0.0951:0.1733:0.7315:0.0	.	589;589;589	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	S	589;588;589;589;527;527;527;527;512	ENSP00000263686:R589S;ENSP00000356767:R527S;ENSP00000356768:R527S;ENSP00000356762:R527S;ENSP00000356760:R527S	ENSP00000263686:R589S	R	-	1	0	SELP	167832979	0.003000	0.15002	0.001000	0.08648	0.070000	0.16714	1.311000	0.33562	1.126000	0.42016	0.650000	0.86243	CGT		0.473	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		T	169566355	G	T	169566355	3	4	241	1	0	0	0	0	1	0	0	0	14025	1058	37	4	751	4	SELP	1	169566355	Missense_Mutation	SNP	G	TCGA-B2-3924-01A-01D-1458-08	16288875	169566355	79684266	3	14661											
CEP350	9857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	180063129	180063129	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:180063129G>T	ENST00000367607.3	+	34	8307	c.7889G>T	c.(7888-7890)aGt>aTt	p.S2630I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2630					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S2630I(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTAATAGAAGTAGAAGCCTT	0.388																																																2	Substitution - Missense(2)	kidney(2)											37	40	39					1																	180063129		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7889G>T	1.37:g.180063129G>T	ENSP00000356579:p.Ser2630Ile		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.336|1.336	-0.595465|-0.595465	0.03771|0.03771	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607;ENST00000417046	.|T	.|0.59772	.|0.24	2.15|2.15	0.983|0.983	0.19767|0.19767	.|.	.|.	.|.	.|.	.|.	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B	.|0.10296	.|0.003;0.001	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.23084|0.23084	-1.0198|-1.0198	5|8	.|.	.|.	.|.	.|.	5.4385|5.4385	0.16494|0.16494	0.6897:0.0:0.3103:0.0|0.6897:0.0:0.3103:0.0	.|.	.|2630;2630	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	N|I	804|2630;94	.|ENSP00000356579:S2630I	.|.	K|S	+|+	3|2	2|0	CEP350|CEP350	178329752|178329752	0.000000|0.000000	0.05858|0.05858	0.551000|0.551000	0.28230|0.28230	0.817000|0.817000	0.46193|0.46193	0.141000|0.141000	0.16076|0.16076	0.258000|0.258000	0.21686|0.21686	-0.383000|-0.383000	0.06682|0.06682	AAG|AGT		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		T	180063129	G	T	180063129	3	4	241	1	0	0	0	0	1	0	0	0	3256	1029	36	4	8019	4	CEP350	1	180063129	Missense_Mutation	SNP	G	TCGA-B2-3924-01A-01D-1458-08	10496774	180063129	69187492	4	14662											
MYO1B	4430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	192250811	192250811	+	Splice_Site	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr2:192250811G>T	ENST00000392318.3	+	16	1801		c.e16+1		MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB						actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGCTGGAAAGGTATGGGGGAG	0.547																																																0													99	94	95					2																	192250811		2203	4300	6503	SO:0001630	splice_region_variant	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1554+1G>T	2.37:g.192250811G>T			O43794|Q7Z6L5	Splice_Site	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705198	0.68615	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.391	0.94583	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1B	191959056	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	9.399000	0.97285	2.659000	0.90383	0.579000	0.79373	.		0.547	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	Intron	T	192250811	G	T	192250811	5	4	241	1	0	0	0	0	0	0	1	0	10071	1275	44	4	1613	4	MYO1B	2	192250811	Splice_Site	SNP	G	TCGA-B2-3924-01A-01D-1458-08		192250811	50948562	5	14663											
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7	11	9					3																	10183725		2133	4211	6344	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>A	3.37:g.10183725C>A	ENSP00000256474:p.Ser65*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576281	0.86645	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.54	4.67	0.58626	.	0.055860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	rs5030826	.	.	.	X	65	.	ENSP00000256474:S65X	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183725	C	A	10183725	4	1	241	1	0	0	0	0	0	1	0	0	17167	893	31	4	196	4	VHL	3	10183725	Nonsense_Mutation	SNP	C	TCGA-B2-3924-01A-01D-1458-08		10183725	187838705	6	14664											
BSN	8927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49662500	49662500	+	Missense_Mutation	SNP	A	A	G	rs140305957		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr3:49662500A>G	ENST00000296452.4	+	2	431	c.317A>G	c.(316-318)cAt>cGt	p.H106R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	106					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACTCCTGGCCATGAGAGCCCC	0.622													A|||	1	0.000199681	0.0	0.0	5008	,	,		18050	0.001		0.0	False		,,,				2504	0.0															0								A	ARG/HIS	0,4406		0,0,2203	43	46	45		317	-0.3	0.1	3	dbSNP_134	45	3,8597	3.0+/-9.4	0,3,4297	yes	missense	BSN	NM_003458.3	29	0,3,6500	GG,GA,AA		0.0349,0.0,0.0231	benign	106/3927	49662500	3,13003	2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.317A>G	3.37:g.49662500A>G	ENSP00000296452:p.His106Arg		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	0.312	-0.967434	0.02232	0.0	3.49E-4	ENSG00000164061	ENST00000296452	T	0.16457	2.34	5.48	-0.277	0.12898	.	1.072000	0.07229	N	0.862209	T	0.05823	0.0152	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42292	-0.9460	10	0.13853	T	0.58	0.0016	7.2878	0.26350	0.4019:0.1821:0.416:0.0	.	106	Q9UPA5	BSN_HUMAN	R	106	ENSP00000296452:H106R	ENSP00000296452:H106R	H	+	2	0	BSN	49637504	0.008000	0.16893	0.122000	0.21767	0.034000	0.12701	0.268000	0.18571	0.006000	0.14734	-0.468000	0.05107	CAT		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		G	49662500	A	G	49662500	3	3	241	1	0	0	0	0	1	0	0	0	1532	217	8	3	323	3	BSN	3	49662500	Missense_Mutation	SNP	A	TCGA-B2-3924-01A-01D-1458-08	39478775	49662500	148359930	7	14665											
HAPLN1	1404	broad.mit.edu;hgsc.bcm.edu	37	5	82940357	82940357	+	Silent	SNP	G	G	T	rs369262984		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr5:82940357G>T	ENST00000274341.4	-	4	1450	c.600C>A	c.(598-600)ggC>ggA	p.G200G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	200	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	AGTCCAGCCCGCCCCGCCAGG	0.622																																																0													40	44	42					5																	82940357		2203	4300	6503	SO:0001819	synonymous_variant	1404				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.600C>A	5.37:g.82940357G>T			B2R9A9	Silent	SNP	ENST00000274341.4	37	CCDS4061.1																																																																																				0.622	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		T	82940357	G	T	82940357	2	4	241	1	0	0	0	0	0	0	0	1	6956	1074	38	4		4	HAPLN1	5	82940357	Silent	SNP	G	TCGA-B2-3924-01A-01D-1458-08		82940357	97974903	8	14666											
CSNK2B	1460	hgsc.bcm.edu	37	6	31637658	31637659	+	Frame_Shift_Del	DEL	CC	CC	-	rs76915685		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr6:31637658_31637659delCC	ENST00000375882.2	+	7	759_760	c.603_604delCC	c.(601-606)ctccaafs	p.Q202fs	LY6G5B_ENST00000375864.4_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Intron|CSNK2B_ENST00000375865.2_Frame_Shift_Del_p.Q202fs|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375866.2_Frame_Shift_Del_p.Q202fs|CSNK2B_ENST00000375885.4_Frame_Shift_Del_p.Q221fs	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	202					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						AGCTGCAGCTCCAAGCCGCCAG	0.574																																																0																																										SO:0001589	frameshift_variant	1460			M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.603_604delCC	6.37:g.31637658_31637659delCC	ENSP00000365042:p.Gln202fs		B0UXA9|P07312|P13862|Q4VX47	Frame_Shift_Del	DEL	ENST00000375882.2	37	CCDS4712.1																																																																																				0.574	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		-	31637659	CC	-	31637658	7	5	241	1	0	1	0	1	0	0	0	0	3961	842	30	0	625	0	CSNK2B	6	31637658	Frame_Shift_Del	DEL	CC	TCGA-B2-3924-01A-01D-1458-08		31637658	139477409	9	14667											
COL1A2	1278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94038888	94038888	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr7:94038888G>T	ENST00000297268.6	+	18	1375	c.904G>T	c.(904-906)Gca>Tca	p.A302S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	302					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.A302S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TAATCCTGGAGCAAACGGCCT	0.433										HNSCC(75;0.22)																																						1	Substitution - Missense(1)	kidney(1)											138	142	141					7																	94038888		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.904G>T	7.37:g.94038888G>T	ENSP00000297268:p.Ala302Ser		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	8.271	0.813265	0.16537	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.83755	-1.76	5.73	3.9	0.45041	.	0.232106	0.43260	D	0.000589	T	0.67325	0.2881	N	0.11724	0.165	0.43076	D	0.994728	B	0.06786	0.001	B	0.12156	0.007	T	0.58171	-0.7683	10	0.13853	T	0.58	.	13.0003	0.58672	0.133:0.0:0.867:0.0	.	302	P08123	CO1A2_HUMAN	S	302;303	ENSP00000297268:A302S	ENSP00000297268:A302S	A	+	1	0	COL1A2	93876824	1.000000	0.71417	0.998000	0.56505	0.132000	0.20833	2.022000	0.41030	0.870000	0.35726	0.655000	0.94253	GCA		0.433	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94038888	G	T	94038888	3	4	241	1	0	0	0	0	1	0	0	0	3680	971	34	4	974	4	COL1A2	7	94038888	Missense_Mutation	SNP	G	TCGA-B2-3924-01A-01D-1458-08		94038888	65099775	10	14668											
NAPRT1	642475	broad.mit.edu;hgsc.bcm.edu	37	8	144657686	144657686	+	5'Flank	SNP	C	C	A	rs148462517	byFrequency	TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr8:144657686C>A	ENST00000398882.3	-	0	0				NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Missense_Mutation_p.V400L|NAPRT1_ENST00000449291.2_Missense_Mutation_p.V400L|NAPRT1_ENST00000276844.7_Missense_Mutation_p.V400L|NAPRT1_ENST00000435154.3_Missense_Mutation_p.V400L|RP11-661A12.9_ENST00000531730.1_RNA	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		TGGCCCCCCACGGCCACCAGC	0.672																																																0													30	35	34					8																	144657686		2199	4298	6497	SO:0001631	upstream_gene_variant	93100			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		8.37:g.144657686C>A	Exception_encountered		A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917523	0.52546	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.45668	0.95;0.93;0.89;0.95;0.91	4.73	4.73	0.59995	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.128270	0.52532	D	0.000076	T	0.55481	0.1923	L	0.41824	1.3	0.39906	D	0.973962	D;B;D;D	0.89917	1.0;0.299;1.0;1.0	D;B;D;D	0.87578	0.998;0.22;0.997;0.998	T	0.55579	-0.8119	10	0.37606	T	0.19	-17.4241	16.3564	0.83236	0.0:1.0:0.0:0.0	.	400;400;400;400	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	L	400	ENSP00000405670:V400L;ENSP00000401508:V400L;ENSP00000341136:V400L;ENSP00000390949:V400L;ENSP00000276844:V400L	ENSP00000276844:V400L	V	-	1	0	NAPRT1	144728829	1.000000	0.71417	0.966000	0.40874	0.596000	0.36781	6.303000	0.72794	2.185000	0.69588	0.650000	0.86243	GTG		0.672	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		A	144657686	C	A	144657686	1	1	241	0	1	0	0	0	0	0	0	0	10167	536	19	4		4	NAPRT1	8	144657686	5'Flank	SNP	C	TCGA-B2-3924-01A-01D-1458-08		144657686	1706336	11	14669											
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	11985089	11985089	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr10:11985089C>T	ENST00000356352.2	-	16	3726	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	UPF2_ENST00000357604.5_Missense_Mutation_p.E1085K|UPF2_ENST00000397053.2_Missense_Mutation_p.E1085K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1085	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.E1085K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GTTTCATTTTCCTTATTGGAA	0.328																																																1	Substitution - Missense(1)	kidney(1)											179	160	166					10																	11985089		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3253G>A	10.37:g.11985089C>T	ENSP00000348708:p.Glu1085Lys		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740056	0.89573	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.06218	3.33;3.33;3.33	5.32	5.32	0.75619	Up-frameshift suppressor 2 (1);	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	L	0.46157	1.445	0.49213	D	0.999761	D	0.57257	0.979	D	0.71414	0.973	T	0.02654	-1.1128	10	0.21014	T	0.42	.	17.5944	0.88007	0.0:1.0:0.0:0.0	.	1085	Q9HAU5	RENT2_HUMAN	K	1085	ENSP00000348708:E1085K;ENSP00000350221:E1085K;ENSP00000380244:E1085K	ENSP00000348708:E1085K	E	-	1	0	UPF2	12025095	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.910000	0.75741	2.657000	0.90304	0.644000	0.83932	GAA		0.328	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			T	11985089	C	T	11985089	3	4	241	1	0	0	0	0	1	0	0	0	17009	864	30	2	589	2	UPF2	10	11985089	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-01D-1458-08		11985089	123549658	12	14670											
MARK2	2011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63670173	63670173	+	Silent	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr11:63670173G>T	ENST00000509502.2	+	13	1696	c.1233G>T	c.(1231-1233)cgG>cgT	p.R411R	MARK2_ENST00000350490.7_Silent_p.R444R|MARK2_ENST00000377809.4_Silent_p.R445R|MARK2_ENST00000513765.2_Silent_p.R412R|MARK2_ENST00000502399.3_Silent_p.R444R|MARK2_ENST00000425897.2_Silent_p.R411R|MARK2_ENST00000413835.2_Silent_p.R445R|MARK2_ENST00000315032.8_Silent_p.R445R|MARK2_ENST00000361128.5_Silent_p.R445R|MARK2_ENST00000408948.3_Silent_p.R411R|MARK2_ENST00000508192.1_Silent_p.R444R|MARK2_ENST00000402010.2_Silent_p.R445R|MARK2_ENST00000377810.3_Silent_p.R411R	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.R411R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTCAGGGCGGAAAGCCAGCA	0.612																																																1	Substitution - coding silent(1)	kidney(1)											46	48	47					11																	63670173		2201	4297	6498	SO:0001819	synonymous_variant	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1233G>T	11.37:g.63670173G>T				Silent	SNP	ENST00000509502.2	37	CCDS41665.1																																																																																				0.612	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		T	63670173	G	T	63670173	2	4	241	1	0	0	0	0	0	0	0	1	9315	1161	41	4		4	MARK2	11	63670173	Silent	SNP	G	TCGA-B2-3924-01A-01D-1458-08		63670173	71336343	13	14671											
OR10G4	390264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123887007	123887007	+	Silent	SNP	C	C	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr11:123887007C>T	ENST00000320891.4	+	1	726	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S242S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCTGTGCCTCCCACTGTATTG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											163	131	142					11																	123887007		2201	4299	6500	SO:0001819	synonymous_variant	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.726C>T	11.37:g.123887007C>T			Q6IEW0	Silent	SNP	ENST00000320891.4	37	CCDS31702.1																																																																																				0.522	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		T	123887007	C	T	123887007	2	4	241	1	0	0	0	0	0	0	0	1	10903	610	22	2		2	OR10G4	11	123887007	Silent	SNP	C	TCGA-B2-3924-01A-01D-1458-08	60216834	123887007	11119509	14	14672											
ZFYVE26	23503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68274120	68274120	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr14:68274120C>T	ENST00000347230.4	-	5	1019	c.881G>A	c.(880-882)gGa>gAa	p.G294E	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G294E	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	294					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.G294E(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CACACCTTTTCCCGAGGCTGT	0.572																																																1	Substitution - Missense(1)	kidney(1)											40	40	40					14																	68274120		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.881G>A	14.37:g.68274120C>T	ENSP00000251119:p.Gly294Glu		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076516	0.36662	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27256	1.82;1.68	5.27	3.46	0.39613	.	0.243197	0.41823	N	0.000807	T	0.42471	0.1204	L	0.60455	1.87	0.33080	D	0.536496	D;B;D	0.89917	1.0;0.197;0.999	D;B;D	0.97110	1.0;0.09;0.946	T	0.53129	-0.8482	10	0.42905	T	0.14	-5.4142	9.06	0.36429	0.0:0.7679:0.0:0.2321	.	294;294;294	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	E	294;273;294	ENSP00000251119:G294E;ENSP00000450603:G294E	ENSP00000251119:G294E	G	-	2	0	ZFYVE26	67343873	0.994000	0.37717	0.972000	0.41901	0.381000	0.30169	0.791000	0.26915	0.796000	0.33947	0.655000	0.94253	GGA		0.572	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		T	68274120	C	T	68274120	3	4	241	1	0	0	0	0	1	0	0	0	17673	855	30	2	6890	2	ZFYVE26	14	68274120	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-01D-1458-08		68274120	39075420	15	14673											
APBA2	321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	29346528	29346528	+	Silent	SNP	G	G	A	rs375569614		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr15:29346528G>A	ENST00000558402.1	+	5	1040	c.441G>A	c.(439-441)ccG>ccA	p.P147P	APBA2_ENST00000411764.1_Silent_p.P147P|APBA2_ENST00000561069.1_Silent_p.P147P|APBA2_ENST00000558330.1_Silent_p.P147P|APBA2_ENST00000558259.1_Silent_p.P147P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	147					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGGCGGGCCCGCACCCCCACG	0.672																																																0								G	,	0,4406		0,0,2203	42	41	41		441,441	-10.5	0	15		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	147/738,147/750	29346528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.441G>A	15.37:g.29346528G>A			E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																				0.672	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		A	29346528	G	A	29346528	2	1	241	1	0	0	0	0	0	0	0	1	757	1074	38	1		1	APBA2	15	29346528	Silent	SNP	G	TCGA-B2-3924-01A-01D-1458-08		29346528	73184864	16	14674											
UACA	55075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	70961034	70961034	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr15:70961034T>G	ENST00000322954.6	-	16	2174	c.1989A>C	c.(1987-1989)gaA>gaC	p.E663D	UACA_ENST00000539319.1_Missense_Mutation_p.E554D|UACA_ENST00000560441.1_Missense_Mutation_p.E648D|UACA_ENST00000379983.2_Missense_Mutation_p.E650D	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	663					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E663D(1)|p.E650D(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACTGTCTAATTTCACTAAGTG	0.338																																																2	Substitution - Missense(2)	kidney(2)											96	96	96					15																	70961034		2199	4297	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1989A>C	15.37:g.70961034T>G	ENSP00000314556:p.Glu663Asp		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870986	0.51695	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.50813	0.73;0.75;1.2	5.61	1.87	0.25490	.	0.089624	0.48286	D	0.000194	T	0.56731	0.2005	L	0.55834	1.745	0.37993	D	0.933987	D;D;D;D	0.89917	0.997;0.998;1.0;0.999	D;D;D;D	0.83275	0.93;0.938;0.996;0.962	T	0.57136	-0.7863	10	0.66056	D	0.02	-23.0206	5.3342	0.15949	0.0:0.2716:0.1413:0.5872	.	554;663;663;650	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	D	663;650;554	ENSP00000314556:E663D;ENSP00000369319:E650D;ENSP00000438667:E554D	ENSP00000314556:E663D	E	-	3	2	UACA	68748088	0.753000	0.28349	0.058000	0.19502	0.992000	0.81027	1.080000	0.30779	0.059000	0.16252	0.402000	0.26972	GAA		0.338	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			G	70961034	T	G	70961034	3	3	241	1	0	0	0	0	1	0	0	0	16829	1838	64	5	2277	5	UACA	15	70961034	Missense_Mutation	SNP	T	TCGA-B2-3924-01A-01D-1458-08	41614506	70961034	31570358	17	14675											
SREBF1	6720	hgsc.bcm.edu	37	17	17716753	17716754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr17:17716753_17716754insC	ENST00000261646.5	-	18	3326_3327	c.3142_3143insG	c.(3142-3144)gccfs	p.A1048fs	MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Frame_Shift_Ins_p.A1078fs|SREBF1_ENST00000395757.1_Frame_Shift_Ins_p.A794fs|SREBF1_ENST00000338854.5_Intron	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1048					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGTGGGGCTGGCCCCCGCCATC	0.693																																																0																																										SO:0001589	frameshift_variant	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3143dupG	17.37:g.17716758_17716758dupC	ENSP00000261646:p.Ala1048fs		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Frame_Shift_Ins	INS	ENST00000261646.5	37	CCDS11189.1																																																																																				0.693	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		C	17716754	-	C	17716753	7	5	241	1	0	1	1	0	0	0	0	0	15146	1203	42	0	308	0	SREBF1	17	17716753	Frame_Shift_Ins	INS	-	TCGA-B2-3924-01A-01D-1458-08		17716753	63478457	18	14676											
C17orf101	79701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80369360	80369360	+	Silent	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr17:80369360G>T	ENST00000313056.5	-	3	502	c.351C>A	c.(349-351)atC>atA	p.I117I	OGFOD3_ENST00000329197.5_Silent_p.I117I	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	117						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.I117I(2)									CCTCCCTGGTGATGACGACAT	0.632																																																2	Substitution - coding silent(2)	kidney(2)											113	81	92					17																	80369360		2203	4300	6503	SO:0001819	synonymous_variant	0			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.351C>A	17.37:g.80369360G>T			C9JDC8|Q8IZ37|Q9H6J2	Silent	SNP	ENST00000313056.5	37	CCDS11811.1																																																																																				0.632	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		T	80369360	G	T	80369360	2	4	241	1	0	0	0	0	0	0	0	1	1850	1280	45	4		4	C17orf101	17	80369360	Silent	SNP	G	TCGA-B2-3924-01A-01D-1458-08	62652607	80369360	825850	19	14677											
ZNF382	84911	hgsc.bcm.edu;ucsc.edu	37	19	37118014	37118015	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr19:37118014_37118015insA	ENST00000292928.2	+	5	1328_1329	c.1215_1216insA	c.(1216-1218)aaafs	p.K406fs	ZNF382_ENST00000435416.1_Frame_Shift_Ins_p.K405fs|ZNF382_ENST00000423582.1_Frame_Shift_Ins_p.K357fs|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Frame_Shift_Ins_p.K405fs	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	406	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACACAGGAGAGAAACCGTATCA	0.446																																																0																																										SO:0001589	frameshift_variant	84911			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1218dupA	19.37:g.37118017_37118017dupA	ENSP00000292928:p.Lys406fs		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Frame_Shift_Ins	INS	ENST00000292928.2	37	CCDS33004.1																																																																																				0.446	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		A	37118015	-	A	37118014	7	5	241	1	0	1	1	0	0	0	0	0	17878	933	33	0	1225	0	ZNF382	19	37118014	Frame_Shift_Ins	INS	-	TCGA-B2-3924-01A-01D-1458-08		37118014	22010969	20	14678											
PRR12	57479	broad.mit.edu	37	19	50100809	50100810	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr19:50100809_50100810delCT	ENST00000418929.2	+	4	3229_3230	c.3217_3218delCT	c.(3217-3219)ctcfs	p.L1073fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AAAGAAGCTGCTCAAGACATCC	0.673																																																0																																										SO:0001589	frameshift_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3217_3218delCT	19.37:g.50100809_50100810delCT	ENSP00000394510:p.Leu1073fs		E9PB06|Q8N4J6	Frame_Shift_Del	DEL	ENST00000418929.2	37	CCDS46143.1																																																																																				0.673	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		-	50100810	CT	-	50100809	7	5	241	1	0	1	0	1	0	0	0	0	12589	797	28	0	3231	0	PRR12	19	50100809	Frame_Shift_Del	DEL	CT	TCGA-B2-3924-01A-01D-1458-08	12982795	50100809	9028174	21	14679											
ASPHD2	57168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	26830026	26830026	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr22:26830026A>G	ENST00000215906.5	+	2	883	c.445A>G	c.(445-447)Atc>Gtc	p.I149V		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	149					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CCACAAGGGCATCCGCGAGCA	0.647																																																0													33	33	33					22																	26830026		2203	4300	6503	SO:0001583	missense	57168			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.445A>G	22.37:g.26830026A>G	ENSP00000215906:p.Ile149Val		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	A	8.741	0.918957	0.17982	.	.	ENSG00000128203	ENST00000215906	T	0.42900	0.96	4.42	3.36	0.38483	.	0.128107	0.53938	N	0.000052	T	0.20292	0.0488	N	0.08118	0	0.42961	D	0.994401	B	0.02656	0.0	B	0.04013	0.001	T	0.05225	-1.0898	10	0.17369	T	0.5	-30.8828	9.5763	0.39459	0.9155:0.0:0.0845:0.0	.	149	Q6ICH7	ASPH2_HUMAN	V	149	ENSP00000215906:I149V	ENSP00000215906:I149V	I	+	1	0	ASPHD2	25160026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.458000	0.60095	0.802000	0.34089	0.460000	0.39030	ATC		0.647	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		G	26830026	A	G	26830026	3	3	241	1	0	0	0	0	1	0	0	0	1055	217	8	3	447	3	ASPHD2	22	26830026	Missense_Mutation	SNP	A	TCGA-B2-3924-01A-01D-1458-08		26830026	24474540	22	14680											
CSMD2	114784	hgsc.bcm.edu;ucsc.edu	37	1	34286089	34286091	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr1:34286089_34286091delTTT	ENST00000373381.4	-	8	1354_1356	c.1178_1180delAAA	c.(1177-1182)aaaaga>aga	p.K393del		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	353	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCCTAGTCTTTTGCCCCTTTC	0.463																																																0																																										SO:0001651	inframe_deletion	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1178_1180delAAA	1.37:g.34286089_34286091delTTT	ENSP00000362479:p.Lys393del		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	In_Frame_Del	DEL	ENST00000373381.4	37																																																																																					0.463	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		-	34286091	TTT	-	34286089	7	5	242	1	0	1	0	1	0	0	0	0	3947	1617	56	0	9651	0	CSMD2	1	34286089	In_Frame_Del	DEL	TTT	TCGA-B2-3924-01A-02D-1386-10		34286089	214964532	1	14681											
SYDE2	84144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	85630328	85630328	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr1:85630328T>C	ENST00000341460.5	-	6	3015	c.2966A>G	c.(2965-2967)cAg>cGg	p.Q989R		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	989	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.Q989R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTCTTGCCTCTGACTTAATAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											71	67	68					1																	85630328		1882	4110	5992	SO:0001583	missense	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.2966A>G	1.37:g.85630328T>C	ENSP00000340594:p.Gln989Arg		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097917	0.76870	.	.	ENSG00000097096	ENST00000341460	T	0.18657	2.2	5.5	5.5	0.81552	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	L	0.41906	1.305	0.80722	D	1	D	0.61697	0.99	D	0.69654	0.965	T	0.02491	-1.1151	10	0.54805	T	0.06	.	15.6148	0.76756	0.0:0.0:0.0:1.0	.	989	Q5VT97	SYDE2_HUMAN	R	989	ENSP00000340594:Q989R	ENSP00000340594:Q989R	Q	-	2	0	SYDE2	85402916	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.665000	0.83852	2.086000	0.62901	0.533000	0.62120	CAG		0.383	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			C	85630328	T	C	85630328	3	2	242	1	0	0	0	0	1	0	0	0	15441	1580	55	3	626	3	SYDE2	1	85630328	Missense_Mutation	SNP	T	TCGA-B2-3924-01A-02D-1386-10	51344239	85630328	163620293	2	14682											
ARF1	375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	228285383	228285383	+	Silent	SNP	G	G	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr1:228285383G>A	ENST00000541182.1	+	4	613	c.351G>A	c.(349-351)cgG>cgA	p.R117R	ARF1_ENST00000272102.5_Silent_p.R117R|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Silent_p.R117R|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	117					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.R117R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				ACGAGCTCCGGGATGCTGTCC	0.642																																																1	Substitution - coding silent(1)	kidney(1)											50	54	52					1																	228285383		2203	4300	6503	SO:0001819	synonymous_variant	375			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"ADP-ribosylation factors", "Endogenous ligands"	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.351G>A	1.37:g.228285383G>A			P10947|P32889	Silent	SNP	ENST00000541182.1	37	CCDS1565.1																																																																																				0.642	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		A	228285383	G	A	228285383	2	1	242	1	0	0	0	0	0	0	0	1	844	1219	43	2		2	ARF1	1	228285383	Silent	SNP	G	TCGA-B2-3924-01A-02D-1386-10	142655055	228285383	20965238	3	14683											
ARID4B	51742	hgsc.bcm.edu;ucsc.edu	37	1	235420512	235420512	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr1:235420512delA	ENST00000264183.3	-	4	643	c.146delT	c.(145-147)gtgfs	p.V49fs	ARID4B_ENST00000366603.2_Frame_Shift_Del_p.V49fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.V49fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	49					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTGAACTTCCACTGTTGAAGA	0.333																																																0													108	107	107					1																	235420512		2203	4299	6502	SO:0001589	frameshift_variant	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.146delT	1.37:g.235420512delA	ENSP00000264183:p.Val49fs		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	ENST00000264183.3	37	CCDS31061.1																																																																																				0.333	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		-	235420512	A	-	235420512	7	5	242	1	0	1	0	1	0	0	0	0	920	159	6	0	3876	0	ARID4B	1	235420512	Frame_Shift_Del	DEL	A	TCGA-B2-3924-01A-02D-1386-10	7135129	235420512	13830109	4	14684											
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152348619	152348619	+	Silent	SNP	A	A	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr2:152348619A>C	ENST00000172853.10	-	145	19629	c.19482T>G	c.(19480-19482)acT>acG	p.T6494T	NEB_ENST00000427231.2_Silent_p.T8350T|RIF1_ENST00000457745.1_Intron|NEB_ENST00000604864.1_Silent_p.T8350T|NEB_ENST00000397345.3_Silent_p.T8350T|NEB_ENST00000397336.2_Silent_p.T325T|NEB_ENST00000509223.2_Silent_p.T263T|NEB_ENST00000603639.1_Silent_p.T8350T|NEB_ENST00000409198.1_Silent_p.T6494T|NEB_ENST00000498015.2_5'UTR			P20929	NEBU_HUMAN	nebulin	6494	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.T6494T(1)|p.T8350T(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACCTGTAATAGTCTCCTGAT	0.413																																																2	Substitution - coding silent(2)	kidney(2)											214	210	211					2																	152348619		1947	4128	6075	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19482T>G	2.37:g.152348619A>C			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	A	7.745	0.702194	0.15172	.	.	ENSG00000183091	ENST00000397337;ENST00000434685	.	.	.	4.97	0.52	0.17040	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37842	-0.9688	4	.	.	.	.	5.1688	0.15099	0.5102:0.1515:0.3383:0.0	.	.	.	.	R	484;591	.	.	L	-	2	0	NEB	152056865	0.001000	0.12720	0.786000	0.31890	0.797000	0.45037	-0.112000	0.10791	0.219000	0.20840	0.460000	0.39030	CTA		0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152348619	A	C	152348619	2	2	242	1	0	0	0	0	0	0	0	1	10304	407	15	5		5	NEB	2	152348619	Silent	SNP	A	TCGA-B2-3924-01A-02D-1386-10		152348619	90850754	5	14685											
VIL1	7429	hgsc.bcm.edu;ucsc.edu	37	2	219299338	219299339	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr2:219299338_219299339insT	ENST00000248444.5	+	14	1678_1679	c.1590_1591insT	c.(1591-1593)tttfs	p.F531fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.F220fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	531	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACCAAGGCCTTTGAGGTCCC	0.569																																																0																																										SO:0001589	frameshift_variant	7429			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1593dupT	2.37:g.219299341_219299341dupT	ENSP00000248444:p.Phe531fs		B2R9A7|Q53S11|Q96AC8	Frame_Shift_Ins	INS	ENST00000248444.5	37	CCDS2417.1																																																																																				0.569	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		T	219299339	-	T	219299338	7	5	242	1	0	1	1	0	0	0	0	0	17169	668	24	0	1640	0	VIL1	2	219299338	Frame_Shift_Ins	INS	-	TCGA-B2-3924-01A-02D-1386-10	66950719	219299338	23900035	6	14686											
PTPRG	5793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	62268432	62268432	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr3:62268432delC	ENST00000474889.1	+	28	4320	c.3943delC	c.(3943-3945)cagfs	p.Q1315fs	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Frame_Shift_Del_p.Q1286fs	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1315	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCGGCACTTTCAGTGTCCCAA	0.423																																																0													213	199	204					3																	62268432		2203	4300	6503	SO:0001589	frameshift_variant	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3943delC	3.37:g.62268432delC	ENSP00000418112:p.Gln1315fs		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Frame_Shift_Del	DEL	ENST00000474889.1	37	CCDS2895.1																																																																																				0.423	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		-	62268432	C	-	62268432	7	5	242	1	0	1	0	1	0	0	0	0	12808	827	29	0	4053	0	PTPRG	3	62268432	Frame_Shift_Del	DEL	C	TCGA-B2-3924-01A-02D-1386-10		62268432	135753998	7	14687											
COL6A6	131873	broad.mit.edu	37	3	130284103	130284103	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr3:130284103A>G	ENST00000358511.6	+	3	958	c.927A>G	c.(925-927)ggA>ggG	p.G309G	COL6A6_ENST00000453409.2_Silent_p.G309G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	309	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G309G(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCTATACTGGAGCTGCCATCA	0.498																																																1	Substitution - coding silent(1)	kidney(1)											72	74	73					3																	130284103		1866	4104	5970	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.927A>G	3.37:g.130284103A>G			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		G	130284103	A	G	130284103	2	3	242	1	0	0	0	0	0	0	0	1	3705	291	11	3		3	COL6A6	3	130284103	Silent	SNP	A	TCGA-B2-3924-01A-02D-1386-10	68015671	130284103	67738327	8	14688											
RNF212	285498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1075211	1075211	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr4:1075211C>G	ENST00000433731.2	-	7	521	c.460G>C	c.(460-462)Gac>Cac	p.D154H	RNF212_ENST00000382968.5_Missense_Mutation_p.D154H			Q495C1	RN212_HUMAN	ring finger protein 212	154					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D154H(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		ACACACCTGTCGGGGGCTGAT	0.577																																																2	Substitution - Missense(2)	kidney(2)											151	151	151					4																	1075211		2203	4300	6503	SO:0001583	missense	285498			AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"RING-type (C3HC4) zinc fingers"	27729	protein-coding gene	gene with protein product		612041	"hypothetical protein LOC285498"	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.460G>C	4.37:g.1075211C>G	ENSP00000389709:p.Asp154His		C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	37	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892509	0.33442	.	.	ENSG00000178222	ENST00000382968;ENST00000433731	T	0.51574	0.7	4.07	-1.1	0.09872	.	.	.	.	.	T	0.30854	0.0778	N	0.14661	0.345	0.09310	N	1	P;P	0.48407	0.91;0.91	P;B	0.50378	0.639;0.443	T	0.20107	-1.0285	9	0.15066	T	0.55	.	4.1035	0.10025	0.0:0.4007:0.176:0.4233	.	154;154	Q495C1;Q495C1-5	RN212_HUMAN;.	H	154	ENSP00000389709:D154H	ENSP00000372428:D154H	D	-	1	0	RNF212	1065211	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	-0.302000	0.08221	-0.085000	0.12573	-0.794000	0.03295	GAC		0.577	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		G	1075211	C	G	1075211	3	3	242	1	0	0	0	0	1	0	0	0	13482	884	31	4	449	4	RNF212	4	1075211	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10		1075211	190079065	9	14689											
PCDH7	5099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	30725280	30725280	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr4:30725280A>T	ENST00000361762.2	+	1	3244	c.2236A>T	c.(2236-2238)Aaa>Taa	p.K746*	PCDH7_ENST00000543491.1_Nonsense_Mutation_p.K746*	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	746	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K699*(1)|p.K746*(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TACCCTTCCCAAAAACATTTC	0.478																																																2	Substitution - Nonsense(2)	kidney(2)											90	84	86					4																	30725280		2203	4300	6503	SO:0001587	stop_gained	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2236A>T	4.37:g.30725280A>T	ENSP00000355243:p.Lys746*		O60246|O60247|Q4W5C4	Nonsense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.923329|5.923329	0.97110|0.97110	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54515	.|0.1863	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64914	.|-0.6295	.|3	0.33141|.	T|.	0.24|.	.|.	10.1965|10.1965	0.43058|0.43058	0.9225:0.0:0.0775:0.0|0.9225:0.0:0.0775:0.0	.|.	.|.	.|.	.|.	X|L	746;746;699|435	.|.	ENSP00000330302:K699X|.	K|Q	+|+	1|2	0|0	PCDH7|PCDH7	30334378|30334378	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	3.525000|3.525000	0.53502|0.53502	2.111000|2.111000	0.64477|0.64477	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.478	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		T	30725280	A	T	30725280	4	4	242	1	0	0	0	0	0	1	0	0	11518	131	5	5	2238	5	PCDH7	4	30725280	Nonsense_Mutation	SNP	A	TCGA-B2-3924-01A-02D-1386-10	29650069	30725280	160428996	10	14690											
MYO10	4651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	16699579	16699579	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:16699579T>C	ENST00000513610.1	-	26	3990	c.3536A>G	c.(3535-3537)cAc>cGc	p.H1179R	MYO10_ENST00000427430.2_Missense_Mutation_p.H536R|MYO10_ENST00000505695.1_Missense_Mutation_p.H518R|MYO10_ENST00000515803.1_Missense_Mutation_p.H518R|MYO10_ENST00000274203.9_Missense_Mutation_p.H536R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1179					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.H1179R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CAGAAAGCTGTGGAAATACGG	0.507																																																1	Substitution - Missense(1)	kidney(1)											54	55	55					5																	16699579		1999	4171	6170	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3536A>G	5.37:g.16699579T>C	ENSP00000421280:p.His1179Arg		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147464	0.77888	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.88277	-2.24;-2.36;-2.28;-2.36;-2.28	5.25	5.25	0.73442	Pleckstrin homology-type (1);	.	.	.	.	D	0.92734	0.7690	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.999	P;D;D	0.80764	0.553;0.983;0.994	D	0.93466	0.6815	9	0.72032	D	0.01	.	15.1922	0.73053	0.0:0.0:0.0:1.0	.	58;820;1179	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	R	1179;518;536;518;536	ENSP00000421280:H1179R;ENSP00000425051:H518R;ENSP00000274203:H536R;ENSP00000421170:H518R;ENSP00000391106:H536R	ENSP00000274203:H536R	H	-	2	0	MYO10	16752579	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	8.040000	0.89188	1.995000	0.58328	0.455000	0.32223	CAC		0.507	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		C	16699579	T	C	16699579	3	2	242	1	0	0	0	0	1	0	0	0	10064	1696	59	3	2704	3	MYO10	5	16699579	Missense_Mutation	SNP	T	TCGA-B2-3924-01A-02D-1386-10		16699579	164215681	11	14691											
RAD50	10111	broad.mit.edu;hgsc.bcm.edu	37	5	131977874	131977874	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:131977874A>C	ENST00000265335.6	+	25	4144	c.3757A>C	c.(3757-3759)Ata>Cta	p.I1253L	AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000458509.1_RNA|RAD50_ENST00000378823.3_Missense_Mutation_p.I1114L|AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000457489.1_RNA			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1253					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.I1114L(1)|p.I1253L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGCAGGATAATAAAAAGTCG	0.373								Homologous recombination																																								2	Substitution - Missense(2)	kidney(2)											81	81	81					5																	131977874		2203	4300	6503	SO:0001583	missense	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3757A>C	5.37:g.131977874A>C	ENSP00000265335:p.Ile1253Leu		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843795	0.91197	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.03413	3.94;3.94	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	M	0.90814	3.15	0.80722	D	1	P	0.36990	0.577	B	0.44133	0.442	T	0.00423	-1.1748	10	0.49607	T	0.09	-22.3531	15.8429	0.78864	1.0:0.0:0.0:0.0	.	1253	Q92878	RAD50_HUMAN	L	1114;1253	ENSP00000368100:I1114L;ENSP00000265335:I1253L	ENSP00000265335:I1253L	I	+	1	0	RAD50	132005773	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.850000	0.92190	2.145000	0.66743	0.533000	0.62120	ATA		0.373	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		C	131977874	A	C	131977874	3	2	242	1	0	0	0	0	1	0	0	0	12990	101	4	5	3855	5	RAD50	5	131977874	Missense_Mutation	SNP	A	TCGA-B2-3924-01A-02D-1386-10	115278295	131977874	48937386	12	14692											
PCDHA8	56140	broad.mit.edu;hgsc.bcm.edu	37	5	140222015	140222015	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:140222015C>T	ENST00000531613.1	+	1	1109	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A370V|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A370V(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGTCATCGCCCTAATTAGC	0.488																																																2	Substitution - Missense(2)	kidney(2)											119	111	114					5																	140222015		2203	4298	6501	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1109C>T	5.37:g.140222015C>T	ENSP00000434655:p.Ala370Val		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631886	0.87660	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.01838	4.61;4.61	3.57	3.57	0.40892	Cadherin (3);Cadherin-like (1);	0.000000	0.36482	U	0.002579	T	0.10380	0.0254	M	0.63169	1.94	0.27277	N	0.958197	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.984	T	0.00832	-1.1548	10	0.87932	D	0	.	15.5787	0.76414	0.0:1.0:0.0:0.0	.	370;370	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	370	ENSP00000434655:A370V;ENSP00000367363:A370V	ENSP00000367363:A370V	A	+	2	0	PCDHA8	140202199	0.998000	0.40836	0.530000	0.27963	0.645000	0.38454	3.858000	0.55979	1.709000	0.51313	0.306000	0.20318	GCC		0.488	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		T	140222015	C	T	140222015	3	4	242	1	0	0	0	0	1	0	0	0	11532	739	26	2	1111	2	PCDHA8	5	140222015	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10	8244141	140222015	40693245	13	14693											
PCDHB16	57717	broad.mit.edu	37	5	140564230	140564230	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:140564230C>G	ENST00000361016.2	+	1	3251	c.2096C>G	c.(2095-2097)tCg>tGg	p.S699W		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	699					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S699W(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCGTCGCTCTTCCTC	0.687																																																1	Substitution - Missense(1)	kidney(1)											71	77	75					5																	140564230		2201	4295	6496	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2096C>G	5.37:g.140564230C>G	ENSP00000354293:p.Ser699Trp		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	c	17.36	3.369754	0.61624	.	.	ENSG00000196963	ENST00000361016	T	0.14022	2.54	3.91	2.04	0.26737	.	0.000000	0.31071	N	0.008303	T	0.42426	0.1202	H	0.96080	3.765	0.09310	N	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.25641	-1.0126	10	0.66056	D	0.02	.	4.9413	0.13967	0.0:0.555:0.0:0.445	.	699	Q9NRJ7	PCDBG_HUMAN	W	699	ENSP00000354293:S699W	ENSP00000354293:S699W	S	+	2	0	PCDHB16	140544414	0.000000	0.05858	0.817000	0.32601	0.342000	0.28953	0.074000	0.14662	1.727000	0.51537	0.479000	0.44913	TCG		0.687	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		G	140564230	C	G	140564230	3	3	242	1	0	0	0	0	1	0	0	0	11543	893	31	4	2098	4	PCDHB16	5	140564230	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10	342215	140564230	40351030	14	14694											
PCDHGA7	56108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140762931	140762931	+	Silent	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:140762931C>T	ENST00000518325.1	+	1	465	c.465C>T	c.(463-465)agC>agT	p.S155S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	155	Cadherin 2. {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)	p.S155S(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCGTTAAGCGAGGCTGGGG	0.463																																																1	Substitution - coding silent(1)	kidney(1)											41	47	45					5																	140762931		1986	4165	6151	SO:0001819	synonymous_variant	56108			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.465C>T	5.37:g.140762931C>T			B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	CCDS54927.1																																																																																				0.463	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		T	140762931	C	T	140762931	2	4	242	1	0	0	0	0	0	0	0	1	11561	767	27	1		1	PCDHGA7	5	140762931	Silent	SNP	C	TCGA-B2-3924-01A-02D-1386-10	198701	140762931	40152329	15	14695											
CNOT6	57472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179998388	179998388	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:179998388G>C	ENST00000393356.1	+	13	1841	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	CNOT6_ENST00000261951.4_Missense_Mutation_p.E473Q			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	473	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)	p.E473Q(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GAGTGCCTATGAGAGTGGCCT	0.423																																																1	Substitution - Missense(1)	kidney(1)											142	129	133					5																	179998388		2203	4300	6503	SO:0001583	missense	57472			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1417G>C	5.37:g.179998388G>C	ENSP00000377024:p.Glu473Gln		A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396138	0.62177	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.80909	-1.43;-1.43	5.63	5.63	0.86233	Endonuclease/exonuclease/phosphatase (2);	0.050513	0.85682	D	0.000000	T	0.75162	0.3812	L	0.37800	1.135	0.80722	D	1	B	0.28258	0.205	B	0.29077	0.098	T	0.69522	-0.5123	9	.	.	.	-7.8326	19.6755	0.95930	0.0:0.0:1.0:0.0	.	473	Q9ULM6	CNOT6_HUMAN	Q	473	ENSP00000261951:E473Q;ENSP00000377024:E473Q	.	E	+	1	0	CNOT6	179930994	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	9.869000	0.99810	2.652000	0.90054	0.563000	0.77884	GAG		0.423	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		C	179998388	G	C	179998388	3	2	242	1	0	0	0	0	1	0	0	0	3624	1291	45	4	1455	4	CNOT6	5	179998388	Missense_Mutation	SNP	G	TCGA-B2-3924-01A-02D-1386-10	39235457	179998388	916872	16	14696											
MDGA1	266727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	37615095	37615095	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr6:37615095C>T	ENST00000434837.3	-	10	3078	c.1900G>A	c.(1900-1902)Gcc>Acc	p.A634T	MDGA1_ENST00000510077.1_Intron|MDGA1_ENST00000505425.1_Missense_Mutation_p.A634T|MDGA1_ENST00000297153.7_Missense_Mutation_p.A637T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	634					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.A636T(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGGCTGTAGGCTTTGGCTAAG	0.607																																																1	Substitution - Missense(1)	kidney(1)											13	13	13					6																	37615095		1801	3909	5710	SO:0001583	missense	266727			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1900G>A	6.37:g.37615095C>T	ENSP00000402584:p.Ala634Thr		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607743	0.87258	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.55588	0.51;0.64;0.53	5.08	5.08	0.68730	.	0.000000	0.47093	D	0.000249	T	0.43144	0.1234	L	0.58101	1.795	0.43457	D	0.995655	P	0.47762	0.9	B	0.42214	0.38	T	0.51849	-0.8653	10	0.56958	D	0.05	.	17.4775	0.87664	0.0:1.0:0.0:0.0	.	634	Q8NFP4	MDGA1_HUMAN	T	634;637;634	ENSP00000402584:A634T;ENSP00000297153:A637T;ENSP00000422042:A634T	ENSP00000297153:A637T	A	-	1	0	MDGA1	37723073	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.231000	0.58639	2.362000	0.80069	0.655000	0.94253	GCC		0.607	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			T	37615095	C	T	37615095	3	4	242	1	0	0	0	0	1	0	0	0	9408	797	28	2	999	2	MDGA1	6	37615095	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10		37615095	133499972	17	14697											
PKHD1	5314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	51612957	51612957	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr6:51612957A>G	ENST00000371117.3	-	58	9732	c.9457T>C	c.(9457-9459)Ttt>Ctt	p.F3153L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3153					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.F3153L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCATAGTCAAAGTTCTTGAAA	0.413																																																2	Substitution - Missense(2)	kidney(2)											172	184	180					6																	51612957		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9457T>C	6.37:g.51612957A>G	ENSP00000360158:p.Phe3153Leu		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152166	0.78001	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79454	-1.27;-1.27	5.86	5.86	0.93980	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.152670	0.47093	D	0.000256	T	0.69646	0.3134	M	0.63428	1.95	0.35454	D	0.795936	P;P;P	0.44281	0.711;0.663;0.831	B;B;B	0.44085	0.356;0.403;0.44	T	0.71830	-0.4474	10	0.29301	T	0.29	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	3153;3153;3153	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3153	ENSP00000360158:F3153L;ENSP00000341097:F3153L	ENSP00000341097:F3153L	F	-	1	0	PKHD1	51720916	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.087000	0.71362	2.240000	0.73641	0.533000	0.62120	TTT		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51612957	A	G	51612957	3	3	242	1	0	0	0	0	1	0	0	0	11973	72	3	3	2846	3	PKHD1	6	51612957	Missense_Mutation	SNP	A	TCGA-B2-3924-01A-02D-1386-10	13997862	51612957	119502110	18	14698											
DOPEY1	23033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	83823098	83823098	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr6:83823098A>G	ENST00000349129.2	+	7	998	c.738A>G	c.(736-738)acA>acG	p.T246T	DOPEY1_ENST00000369739.3_Silent_p.T246T|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Silent_p.T246T	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	246					protein transport (GO:0015031)			p.T246T(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGAGAAGCACACTGGACCTCA	0.373																																																1	Substitution - coding silent(1)	kidney(1)											174	151	159					6																	83823098		2203	4300	6503	SO:0001819	synonymous_variant	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.738A>G	6.37:g.83823098A>G			Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	CCDS4996.1																																																																																				0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		G	83823098	A	G	83823098	2	3	242	1	0	0	0	0	0	0	0	1	4709	146	6	3		3	DOPEY1	6	83823098	Silent	SNP	A	TCGA-B2-3924-01A-02D-1386-10	32210141	83823098	87291969	19	14699											
MDN1	23195	hgsc.bcm.edu;ucsc.edu	37	6	90440533	90440534	+	Frame_Shift_Ins	INS	-	-	T	rs146623600		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr6:90440533_90440534insT	ENST00000369393.3	-	35	5166_5167	c.5051_5052insA	c.(5050-5052)aatfs	p.N1684fs	MDN1_ENST00000428876.1_Frame_Shift_Ins_p.N1684fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1684					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTTCAACTCATTTTTCTGATA	0.371																																																0																																										SO:0001589	frameshift_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5052dupA	6.37:g.90440538_90440538dupT	ENSP00000358400:p.Asn1684fs		O15019|Q5T794	Frame_Shift_Ins	INS	ENST00000369393.3	37	CCDS5024.1																																																																																				0.371	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90440534	-	T	90440533	7	5	242	1	0	1	1	0	0	0	0	0	9417	214	8	0	12010	0	MDN1	6	90440533	Frame_Shift_Ins	INS	-	TCGA-B2-3924-01A-02D-1386-10	6617435	90440533	80674534	20	14700											
MAP7	9053	hgsc.bcm.edu;ucsc.edu	37	6	136710548	136710548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr6:136710548delC	ENST00000354570.3	-	4	762	c.352delG	c.(352-354)gagfs	p.E118fs	MAP7_ENST00000454590.1_Frame_Shift_Del_p.E140fs|MAP7_ENST00000544465.1_Frame_Shift_Del_p.E103fs|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000438100.2_Frame_Shift_Del_p.E140fs	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	118					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCCTCCGCTCCTCCTTCTGC	0.567																																																0													130	124	126					6																	136710548		2203	4300	6503	SO:0001589	frameshift_variant	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.352delG	6.37:g.136710548delC	ENSP00000346581:p.Glu118fs		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Frame_Shift_Del	DEL	ENST00000354570.3	37	CCDS5178.1																																																																																				0.567	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		-	136710548	C	-	136710548	7	5	242	1	0	1	0	1	0	0	0	0	9268	864	30	0	1957	0	MAP7	6	136710548	Frame_Shift_Del	DEL	C	TCGA-B2-3924-01A-02D-1386-10	46270015	136710548	34404519	21	14701											
AUTS2	26053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	70228160	70228160	+	Silent	SNP	G	G	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr7:70228160G>A	ENST00000342771.4	+	7	1368	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	AUTS2_ENST00000406775.2_Silent_p.Q349Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	349								p.Q349Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTGAGGCCCAGCTCCAGCCTG	0.682																																																1	Substitution - coding silent(1)	kidney(1)											35	39	38					7																	70228160		2203	4300	6503	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1047G>A	7.37:g.70228160G>A			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	8.304	0.820604	0.16678	.	.	ENSG00000158321	ENST00000416482	.	.	.	5.41	2.65	0.31530	.	.	.	.	.	T	0.58323	0.2114	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50668	-0.8801	4	.	.	.	-18.6805	9.2009	0.37258	0.3498:0.0:0.6502:0.0	.	.	.	.	T	130	.	.	A	+	1	0	AUTS2	69866096	1.000000	0.71417	0.988000	0.46212	0.840000	0.47671	1.697000	0.37784	0.270000	0.21984	0.563000	0.77884	GCT		0.682	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			A	70228160	G	A	70228160	2	1	242	1	0	0	0	0	0	0	0	1	1225	962	34	2		2	AUTS2	7	70228160	Silent	SNP	G	TCGA-B2-3924-01A-02D-1386-10		70228160	88910503	22	14702											
BAZ1B	9031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	72877401	72877401	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr7:72877401G>C	ENST00000339594.4	-	12	3438	c.3100C>G	c.(3100-3102)Cta>Gta	p.L1034V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.L1034V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1034					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.L1034V(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCCGTGCTAGATGAATAGAG	0.373																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											1	Substitution - Missense(1)	kidney(1)											176	181	180					7																	72877401		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3100C>G	7.37:g.72877401G>C	ENSP00000342434:p.Leu1034Val		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964188	0.74131	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59224	0.28;0.28	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	L	0.34521	1.04	0.49389	D	0.999784	D	0.69078	0.997	D	0.78314	0.991	T	0.58504	-0.7625	10	0.27785	T	0.31	-12.8775	11.9345	0.52866	0.0878:0.0:0.9122:0.0	.	1034	Q9UIG0	BAZ1B_HUMAN	V	1034	ENSP00000342434:L1034V;ENSP00000385442:L1034V	ENSP00000342434:L1034V	L	-	1	2	BAZ1B	72515337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.564000	0.36375	2.656000	0.90262	0.591000	0.81541	CTA		0.373	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		C	72877401	G	C	72877401	3	2	242	1	0	0	0	0	1	0	0	0	1330	933	33	4	1383	4	BAZ1B	7	72877401	Missense_Mutation	SNP	G	TCGA-B2-3924-01A-02D-1386-10	2649241	72877401	86261262	23	14703											
ASNS	440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	97487671	97487671	+	Silent	SNP	C	C	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr7:97487671C>A	ENST00000394309.3	-	7	1293	c.822G>T	c.(820-822)ctG>ctT	p.L274L	ASNS_ENST00000437628.1_Silent_p.L191L|ASNS_ENST00000175506.4_Silent_p.L274L|ASNS_ENST00000444334.1_Silent_p.L253L|ASNS_ENST00000422745.1_Silent_p.L253L|ASNS_ENST00000455086.1_Silent_p.L191L|ASNS_ENST00000394308.3_Silent_p.L274L	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	274	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)	p.L274L(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGGCTTCTTTCAGCTGCTTCA	0.493																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)											1	Substitution - coding silent(1)	kidney(1)											86	77	80					7																	97487671		2203	4300	6503	SO:0001819	synonymous_variant	440			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.822G>T	7.37:g.97487671C>A			A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Silent	SNP	ENST00000394309.3	37	CCDS5652.1																																																																																				0.493	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		A	97487671	C	A	97487671	2	1	242	1	0	0	0	0	0	0	0	1	1048	813	29	4		4	ASNS	7	97487671	Silent	SNP	C	TCGA-B2-3924-01A-02D-1386-10	24610270	97487671	61650992	24	14704											
KCNB2	9312	hgsc.bcm.edu;ucsc.edu	37	8	73849964	73849964	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr8:73849964delA	ENST00000523207.1	+	3	2962	c.2374delA	c.(2374-2376)aaafs	p.K792fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	792					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TCCCAAGCAGAAACTGTTCCC	0.547																																																0													43	48	46					8																	73849964		2203	4300	6503	SO:0001589	frameshift_variant	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2374delA	8.37:g.73849964delA	ENSP00000430846:p.Lys792fs		Q7Z7D0|Q9BXD3	Frame_Shift_Del	DEL	ENST00000523207.1	37	CCDS6209.1																																																																																				0.547	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		-	73849964	A	-	73849964	7	5	242	1	0	1	0	1	0	0	0	0	8015	247	9	0	2380	0	KCNB2	8	73849964	Frame_Shift_Del	DEL	A	TCGA-B2-3924-01A-02D-1386-10		73849964	72514058	25	14705											
LRRCC1	85444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	86050475	86050475	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr8:86050475A>C	ENST00000360375.3	+	16	2848	c.2699A>C	c.(2698-2700)tAc>tCc	p.Y900S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.Y880S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	900					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y900S(1)|p.Y880S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGAAAAGCTTACAGGTATTAT	0.294																																																2	Substitution - Missense(2)	kidney(2)											42	41	42					8																	86050475		1801	4065	5866	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2699A>C	8.37:g.86050475A>C	ENSP00000353538:p.Tyr900Ser		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084156	0.76642	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.33438	1.41;1.41	5.58	5.58	0.84498	.	0.000000	0.34580	N	0.003850	T	0.50684	0.1630	M	0.63843	1.955	0.52501	D	0.999958	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.72075	0.943;0.976;0.94	T	0.41448	-0.9508	10	0.21540	T	0.41	-9.7411	15.3941	0.74778	1.0:0.0:0.0:0.0	.	880;807;900	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	S	900;880	ENSP00000353538:Y900S;ENSP00000394695:Y880S	ENSP00000353538:Y900S	Y	+	2	0	LRRCC1	86237727	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.283000	0.72646	2.118000	0.64928	0.528000	0.53228	TAC		0.294	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		C	86050475	A	C	86050475	3	2	242	1	0	0	0	0	1	0	0	0	9028	391	14	5	2761	5	LRRCC1	8	86050475	Missense_Mutation	SNP	A	TCGA-B2-3924-01A-02D-1386-10	12200511	86050475	60313547	26	14706											
MFSD3	113655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145735861	145735861	+	Silent	SNP	C	C	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr8:145735861C>A	ENST00000301327.4	+	2	1061	c.801C>A	c.(799-801)tcC>tcA	p.S267S	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'Flank	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	267	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.S267S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGCTCCTCCCTGGGTGGGA	0.617																																																1	Substitution - coding silent(1)	kidney(1)											129	123	125					8																	145735861		2203	4300	6503	SO:0001819	synonymous_variant	113655				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.801C>A	8.37:g.145735861C>A				Silent	SNP	ENST00000301327.4	37	CCDS6431.1																																																																																				0.617	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		A	145735861	C	A	145735861	2	1	242	1	0	0	0	0	0	0	0	1	9534	610	22	4		4	MFSD3	8	145735861	Silent	SNP	C	TCGA-B2-3924-01A-02D-1386-10	59685386	145735861	628161	27	14707											
PKN3	29941	hgsc.bcm.edu;ucsc.edu	37	9	131477498	131477498	+	Frame_Shift_Del	DEL	G	G	-	rs146680071		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr9:131477498delG	ENST00000291906.4	+	14	2093	c.1700delG	c.(1699-1701)cggfs	p.R567fs	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	567	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GTGCTGGGCCGGGGACACTTT	0.612																																																0													55	59	58					9																	131477498		2203	4300	6503	SO:0001589	frameshift_variant	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1700delG	9.37:g.131477498delG	ENSP00000291906:p.Arg567fs		Q9UM03	Frame_Shift_Del	DEL	ENST00000291906.4	37	CCDS6908.1																																																																																				0.612	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		-	131477498	G	-	131477498	7	5	242	1	0	1	0	1	0	0	0	0	11983	1116	39	0	1754	0	PKN3	9	131477498	Frame_Shift_Del	DEL	G	TCGA-B2-3924-01A-02D-1386-10		131477498	9735933	28	14708											
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	11998363	11998363	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr10:11998363G>A	ENST00000356352.2	-	12	3003	c.2530C>T	c.(2530-2532)Cac>Tac	p.H844Y	UPF2_ENST00000357604.5_Missense_Mutation_p.H844Y|UPF2_ENST00000397053.2_Missense_Mutation_p.H844Y			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	844	Binds to UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.			H -> Q (in Ref. 2; AAG48509 and 4; BAA92646). {ECO:0000305}.	gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.H844Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCCACAACGTGGATCCCAACA	0.373																																																1	Substitution - Missense(1)	kidney(1)											147	137	140					10																	11998363		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2530C>T	10.37:g.11998363G>A	ENSP00000348708:p.His844Tyr		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238530	0.22711	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.22336	1.96;1.96;1.96	5.53	5.53	0.82687	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	L	0.46157	1.445	0.80722	D	1	P	0.47545	0.897	P	0.54460	0.753	T	0.02081	-1.1217	10	0.02654	T	1	.	19.4313	0.94768	0.0:0.0:1.0:0.0	.	844	Q9HAU5	RENT2_HUMAN	Y	844	ENSP00000348708:H844Y;ENSP00000350221:H844Y;ENSP00000380244:H844Y	ENSP00000348708:H844Y	H	-	1	0	UPF2	12038369	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.209000	0.95087	2.596000	0.87737	0.484000	0.47621	CAC		0.373	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			A	11998363	G	A	11998363	3	1	242	1	0	0	0	0	1	0	0	0	17009	1348	47	2	1328	2	UPF2	10	11998363	Missense_Mutation	SNP	G	TCGA-B2-3924-01A-02D-1386-10		11998363	123536384	29	14709											
C10orf118	55088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	115889683	115889683	+	Missense_Mutation	SNP	C	C	A	rs554900472		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr10:115889683C>A	ENST00000369287.3	-	13	2415	c.2149G>T	c.(2149-2151)Gtc>Ttc	p.V717F	C10orf118_ENST00000497592.1_5'Flank|C10orf118_ENST00000543782.1_Missense_Mutation_p.V315F	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		717	Ser-rich.							p.V717F(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ATGCTGCTGACTTCTTTGTCA	0.363																																																1	Substitution - Missense(1)	kidney(1)											141	129	133					10																	115889683		2203	4300	6503	SO:0001583	missense	55088																														ENST00000369287.3:c.2149G>T	10.37:g.115889683C>A	ENSP00000358293:p.Val717Phe		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.45|13.45	2.241649|2.241649	0.39598|0.39598	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	.|T	.|0.26660	.|1.72	5.17|5.17	4.25|4.25	0.50352|0.50352	.|.	.|0.311378	.|0.35067	.|N	.|0.003477	T|T	0.24470|0.24470	0.0593|0.0593	L|L	0.39633|0.39633	1.23|1.23	0.31425|0.31425	N|N	0.673809|0.673809	.|B;P	.|0.42203	.|0.343;0.773	.|B;B	.|0.43701	.|0.118;0.428	T|T	0.12344|0.12344	-1.0551|-1.0551	5|10	.|0.23891	.|T	.|0.37	.|.	12.506|12.506	0.55981|0.55981	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	.|.	.|315;717	.|F6VCB7;Q7Z3E2	.|.;CJ118_HUMAN	I|F	345|717;315;823	.|ENSP00000358293:V717F	.|ENSP00000358293:V717F	S|V	-|-	2|1	0|0	C10orf118|C10orf118	115879673|115879673	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.993000|0.993000	0.82548|0.82548	4.787000|4.787000	0.62432|0.62432	1.146000|1.146000	0.42352|0.42352	0.585000|0.585000	0.79938|0.79938	AGT|GTC		0.363	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			A	115889683	C	A	115889683	3	1	242	1	0	0	0	0	1	0	0	0	1589	565	20	4	563	4	C10orf118	10	115889683	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10	103891320	115889683	19645064	30	14710											
ATHL1	80162	broad.mit.edu;ucsc.edu	37	11	289868	289868	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:289868A>C	ENST00000409548.2	+	2	167	c.52A>C	c.(52-54)Agt>Cgt	p.S18R	RP11-326C3.2_ENST00000534742.1_RNA|ATHL1_ENST00000409655.1_Splice_Site|ATHL1_ENST00000409479.1_Missense_Mutation_p.S18R|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	18					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.S18R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCTCTGCCCAGTGACCCCCG	0.672																																																1	Substitution - Missense(1)	kidney(1)											75	81	79					11																	289868		692	1591	2283	SO:0001583	missense	80162			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.52A>C	11.37:g.289868A>C	ENSP00000387185:p.Ser18Arg		Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	ENST00000409548.2	37	CCDS31322.2	.	.	.	.	.	.	.	.	.	.	A	10.26	1.301415	0.23736	.	.	ENSG00000142102	ENST00000409548;ENST00000409479	.	.	.	4.66	0.934	0.19477	.	.	.	.	.	T	0.32133	0.0819	L	0.50333	1.59	0.18873	N	0.999988	B;B	0.16166	0.006;0.016	B;B	0.14023	0.004;0.01	T	0.27706	-1.0066	8	0.44086	T	0.13	.	3.9043	0.09176	0.4251:0.0:0.3275:0.2474	.	18;18	Q32M88;E7EMA9	ATHL1_HUMAN;.	R	18	.	ENSP00000387099:S18R	S	+	1	0	ATHL1	279868	0.000000	0.05858	0.998000	0.56505	0.650000	0.38633	-0.312000	0.08113	0.180000	0.19960	0.402000	0.26972	AGT		0.672	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		C	289868	A	C	289868	3	2	242	1	0	0	0	0	1	0	0	0	1104	188	7	5	54	5	ATHL1	11	289868	Missense_Mutation	SNP	A	TCGA-B2-3924-01A-02D-1386-10		289868	134716648	31	14711											
B4GALNT4	338707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	375478	375478	+	Silent	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:375478C>T	ENST00000329962.6	+	9	801	c.801C>T	c.(799-801)ccC>ccT	p.P267P		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	267					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.P267P(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTTCCTGCCCGGCCTGAAGT	0.672																																																1	Substitution - coding silent(1)	kidney(1)											94	99	97					11																	375478		2203	4296	6499	SO:0001819	synonymous_variant	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.801C>T	11.37:g.375478C>T			Q96LV2	Silent	SNP	ENST00000329962.6	37	CCDS7694.1																																																																																				0.672	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		T	375478	C	T	375478	2	4	242	1	0	0	0	0	0	0	0	1	1269	639	23	1		1	B4GALNT4	11	375478	Silent	SNP	C	TCGA-B2-3924-01A-02D-1386-10	85610	375478	134631038	32	14712											
ALKBH3	221120	hgsc.bcm.edu;ucsc.edu	37	11	43941531	43941532	+	Frame_Shift_Ins	INS	-	-	ATCC			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:43941531_43941532insATCC	ENST00000302708.4	+	10	1243_1244	c.832_833insATCC	c.(832-834)tatfs	p.-279fs	ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3-AS1_ENST00000534287.1_RNA|ALKBH3_ENST00000532410.1_3'UTR|ALKBH3-AS1_ENST00000499194.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA|RP11-613D13.4_ENST00000526408.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)						cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	TCGGACAGTCTATCCAGACCCT	0.485								Direct reversal of damage																																								0																																										SO:0001589	frameshift_variant	221120			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"Alkylation repair homologs"	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.833_836dupATCC	11.37:g.43941532_43941535dupATCC	ENSP00000302232:p.Pro279fs		A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Frame_Shift_Ins	INS	ENST00000302708.4	37	CCDS7906.1																																																																																				0.485	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178		ATCC	43941532	-	ATCC	43941531	7	5	242	1	0	1	1	0	0	0	0	0	528	1522	53	0	866	0	ALKBH3	11	43941531	Frame_Shift_Ins	INS	-	TCGA-B2-3924-01A-02D-1386-10	43566053	43941531	91064985	33	14713											
OR4P4	81300	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55406262	55406262	+	Silent	SNP	C	C	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:55406262C>A	ENST00000314612.2	+	1	429	c.429C>A	c.(427-429)atC>atA	p.I143I		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I143I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ACACAATCATCATAGTTTGTT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											77	67	70					11																	55406262		2179	4006	6185	SO:0001819	synonymous_variant	81300			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.429C>A	11.37:g.55406262C>A				Silent	SNP	ENST00000314612.2	37	CCDS31504.1																																																																																				0.428	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		A	55406262	C	A	55406262	2	1	242	1	0	0	0	0	0	0	0	1	11082	816	29	4		4	OR4P4	11	55406262	Silent	SNP	C	TCGA-B2-3924-01A-02D-1386-10	11464731	55406262	79600254	34	14714											
MPZL2	10205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118133354	118133354	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:118133354A>G	ENST00000278937.2	-	3	363	c.235T>C	c.(235-237)Tac>Cac	p.Y79H	MPZL2_ENST00000525647.1_5'Flank|MPZL2_ENST00000438295.2_Missense_Mutation_p.Y79H	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	79	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y79H(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCTATGTGGTAGTAGAATACC	0.532																																																1	Substitution - Missense(1)	kidney(1)											50	48	48					11																	118133354		2200	4296	6496	SO:0001583	missense	10205			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.235T>C	11.37:g.118133354A>G	ENSP00000278937:p.Tyr79His		A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	A	31	5.061477	0.93846	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.94758	-3.51;-3.51	5.98	5.98	0.97165	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.216017	0.49916	D	0.000127	D	0.97188	0.9081	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	D	0.97376	0.9979	10	0.54805	T	0.06	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	79	O60487	MPZL2_HUMAN	H	79	ENSP00000278937:Y79H;ENSP00000408362:Y79H	ENSP00000278937:Y79H	Y	-	1	0	MPZL2	117638564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.288000	0.76882	0.528000	0.53228	TAC		0.532	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		G	118133354	A	G	118133354	3	3	242	1	0	0	0	0	1	0	0	0	9752	420	15	3	424	3	MPZL2	11	118133354	Missense_Mutation	SNP	A	TCGA-B2-3924-01A-02D-1386-10	62727092	118133354	16873162	35	14715											
CD3G	917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118221315	118221315	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:118221315T>C	ENST00000532917.1	+	4	424	c.356T>C	c.(355-357)cTc>cCc	p.L119P	CD3G_ENST00000392883.2_Intron|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	119					cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)	p.L119P(1)		breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TCTGGCTTTCTCTTTGCTGAA	0.453																																																1	Substitution - Missense(1)	kidney(1)											186	160	169					11																	118221315		2200	4296	6496	SO:0001583	missense	917			X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"CD molecules"	1675	protein-coding gene	gene with protein product		186740	"CD3g antigen, gamma polypeptide (TiT3 complex)"				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.356T>C	11.37:g.118221315T>C	ENSP00000431445:p.Leu119Pro		Q2HIZ6	Missense_Mutation	SNP	ENST00000532917.1	37	CCDS8395.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974849	0.34848	.	.	ENSG00000160654	ENST00000532917	T	0.56275	0.47	5.76	5.76	0.90799	.	0.775582	0.12525	N	0.461336	T	0.45316	0.1336	N	0.19112	0.55	0.80722	D	1	P	0.44877	0.845	P	0.44732	0.459	T	0.45498	-0.9257	10	0.87932	D	0	.	12.4788	0.55829	0.0:0.0:0.0:1.0	.	119	P09693	CD3G_HUMAN	P	119	ENSP00000431445:L119P	ENSP00000431445:L119P	L	+	2	0	CD3G	117726525	0.957000	0.32711	0.886000	0.34754	0.044000	0.14063	4.175000	0.58263	2.202000	0.70862	0.533000	0.62120	CTC		0.453	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		C	118221315	T	C	118221315	3	2	242	1	0	0	0	0	1	0	0	0	3015	1551	54	3	370	3	CD3G	11	118221315	Missense_Mutation	SNP	T	TCGA-B2-3924-01A-02D-1386-10	87961	118221315	16785201	36	14716											
ADAMTS15	170689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	130341137	130341137	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:130341137C>T	ENST00000299164.2	+	7	1937	c.1937C>T	c.(1936-1938)aCc>aTc	p.T646I		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	646	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T646I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCTGACTCCACCTCCGTCTGT	0.587																																																1	Substitution - Missense(1)	kidney(1)											108	101	103					11																	130341137		2201	4297	6498	SO:0001583	missense	170689			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1937C>T	11.37:g.130341137C>T	ENSP00000299164:p.Thr646Ile		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949213	0.92660	.	.	ENSG00000166106	ENST00000299164	T	0.59638	0.25	5.83	5.83	0.93111	.	.	.	.	.	T	0.64832	0.2634	L	0.60067	1.865	0.58432	D	0.999999	D	0.55800	0.973	P	0.50570	0.644	T	0.58713	-0.7588	9	0.23302	T	0.38	.	20.103	0.97881	0.0:1.0:0.0:0.0	.	646	Q8TE58	ATS15_HUMAN	I	646	ENSP00000299164:T646I	ENSP00000299164:T646I	T	+	2	0	ADAMTS15	129846347	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.453000	0.80700	2.738000	0.93877	0.655000	0.94253	ACC		0.587	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		T	130341137	C	T	130341137	3	4	242	1	0	0	0	0	1	0	0	0	260	507	18	2	1963	2	ADAMTS15	11	130341137	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10	12119822	130341137	4665379	37	14717											
C1S	716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7177661	7177661	+	Silent	SNP	T	T	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr12:7177661T>G	ENST00000406697.1	+	15	2401	c.1773T>G	c.(1771-1773)ccT>ccG	p.P591P	C1S_ENST00000402681.3_Silent_p.P424P|C1S_ENST00000360817.5_Silent_p.P591P|C1S_ENST00000328916.3_Silent_p.P591P			P09871	C1S_HUMAN	complement component 1, s subcomponent	591	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.P591P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTGTAGCTCCTTTAAGAAAAT	0.517																																					GBM(156;750 1943 12971 24779 31015)											1	Substitution - coding silent(1)	kidney(1)											76	77	77					12																	7177661		2203	4300	6503	SO:0001819	synonymous_variant	716				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1773T>G	12.37:g.7177661T>G			D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	CCDS31735.1																																																																																				0.517	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		G	7177661	T	G	7177661	2	3	242	1	0	0	0	0	0	0	0	1	1976	1596	56	5		5	C1S	12	7177661	Silent	SNP	T	TCGA-B2-3924-01A-02D-1386-10		7177661	126674234	38	14718											
COL2A1	1280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48381066	48381066	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr12:48381066C>G	ENST00000380518.3	-	20	1416	c.1252G>C	c.(1252-1254)Gcc>Ccc	p.A418P	COL2A1_ENST00000337299.6_Missense_Mutation_p.A349P|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	418	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.A418P(1)|p.A349P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GATCCTTTGGCTCCAGGAATT	0.552																																																2	Substitution - Missense(2)	kidney(2)											75	79	78					12																	48381066		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1252G>C	12.37:g.48381066C>G	ENSP00000369889:p.Ala418Pro		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543453	0.65198	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.90133	-2.62;-2.62	4.68	4.68	0.58851	.	0.064020	0.64402	D	0.000012	D	0.89639	0.6773	N	0.05306	-0.075	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.87578	0.993;0.998	D	0.92121	0.5704	10	0.62326	D	0.03	.	16.9284	0.86183	0.0:1.0:0.0:0.0	.	349;418	P02458-1;P02458	.;CO2A1_HUMAN	P	418;349;349	ENSP00000369889:A418P;ENSP00000338213:A349P	ENSP00000338213:A349P	A	-	1	0	COL2A1	46667333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.756000	0.62205	2.605000	0.88082	0.655000	0.94253	GCC		0.552	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		G	48381066	C	G	48381066	3	3	242	1	0	0	0	0	1	0	0	0	3689	797	28	4	3351	4	COL2A1	12	48381066	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10	41203405	48381066	85470829	39	14719											
RDH5	5959	hgsc.bcm.edu;ucsc.edu	37	12	56118202	56118203	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr12:56118202_56118203insG	ENST00000257895.5	+	5	982_983	c.830_831insG	c.(829-834)ccccgafs	p.R278fs	RDH5_ENST00000548082.1_Frame_Shift_Ins_p.R278fs|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000547072.1_Frame_Shift_Ins_p.R181fs	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	278					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	GCTCGACACCCCCGAACCCGCT	0.614											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	5959			U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	9940	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 5"	601617	"retinol dehydrogenase 5 (11-cis and 9-cis)"	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	Exception_encountered	12.37:g.56118202_56118203insG	ENSP00000257895:p.Arg278fs	1013	O00179|Q8TAI2	Frame_Shift_Ins	INS	ENST00000257895.5	37	CCDS31829.1																																																																																				0.614	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		G	56118203	-	G	56118202	7	5	242	1	0	1	1	0	0	0	0	0	13201	623	22	0	844	0	RDH5	12	56118202	Frame_Shift_Ins	INS	-	TCGA-B2-3924-01A-02D-1386-10	7737136	56118202	77733693	40	14720											
OLFM4	10562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	53624673	53624673	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr13:53624673T>C	ENST00000219022.2	+	5	1378	c.1300T>C	c.(1300-1302)Ttc>Ctc	p.F434L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	434	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.F434L(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTCTAACGCCTTCATGGTATG	0.423																																																1	Substitution - Missense(1)	kidney(1)											149	131	137					13																	53624673		2203	4300	6503	SO:0001583	missense	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1300T>C	13.37:g.53624673T>C	ENSP00000219022:p.Phe434Leu		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	T	34	5.358662	0.95854	.	.	ENSG00000102837	ENST00000219022	D	0.96992	-4.2	5.92	5.92	0.95590	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.98676	0.9556	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99716	1.1008	10	0.87932	D	0	.	16.3604	0.83263	0.0:0.0:0.0:1.0	.	434	Q6UX06	OLFM4_HUMAN	L	434	ENSP00000219022:F434L	ENSP00000219022:F434L	F	+	1	0	OLFM4	52522674	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.040000	0.89188	2.260000	0.74910	0.528000	0.53228	TTC		0.423	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		C	53624673	T	C	53624673	3	2	242	1	0	0	0	0	1	0	0	0	10857	1609	56	3	1318	3	OLFM4	13	53624673	Missense_Mutation	SNP	T	TCGA-B2-3924-01A-02D-1386-10		53624673	61545205	41	14721											
PIBF1	10464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	73482729	73482729	+	Nonsense_Mutation	SNP	C	C	T	rs374043584		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr13:73482729C>T	ENST00000326291.6	+	12	1887	c.1549C>T	c.(1549-1551)Caa>Taa	p.Q517*		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	517						centrosome (GO:0005813)		p.Q517*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TACTGAACTTCAAGCACAGAA	0.348																																																1	Substitution - Nonsense(1)	kidney(1)											78	76	77					13																	73482729		2203	4300	6503	SO:0001587	stop_gained	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1549C>T	13.37:g.73482729C>T	ENSP00000317144:p.Gln517*		O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Nonsense_Mutation	SNP	ENST00000326291.6	37	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	C	41	8.699176	0.98920	.	.	ENSG00000083535	ENST00000326291	.	.	.	5.73	3.94	0.45596	.	0.232340	0.45606	D	0.000360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-9.0394	12.4608	0.55731	0.1297:0.7383:0.132:0.0	.	.	.	.	X	517	.	ENSP00000317144:Q517X	Q	+	1	0	PIBF1	72380730	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	3.743000	0.55104	0.702000	0.31825	0.650000	0.86243	CAA		0.348	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		T	73482729	C	T	73482729	4	4	242	1	0	0	0	0	0	1	0	0	11881	827	29	2	1591	2	PIBF1	13	73482729	Nonsense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10	19858056	73482729	41687149	42	14722											
C14orf135	64430	broad.mit.edu	37	14	60591443	60591443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr14:60591443delT	ENST00000406854.1	+	9	3108	c.2554delT	c.(2554-2556)tttfs	p.F852fs	PCNXL4_ENST00000404681.2_Frame_Shift_Del_p.F852fs|PCNXL4_ENST00000317623.4_Frame_Shift_Del_p.F618fs|PCNXL4_ENST00000535349.1_Frame_Shift_Del_p.F59fs|PCNXL4_ENST00000406949.1_Frame_Shift_Del_p.F618fs			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	852						integral component of membrane (GO:0016021)											TACAAATTTGTTTATTCCAGG	0.358																																																0													105	122	117					14																	60591443		2185	4251	6436	SO:0001589	frameshift_variant	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2554delT	14.37:g.60591443delT	ENSP00000384801:p.Phe852fs		A8MXM2|Q9BQG8|Q9H9F2	Frame_Shift_Del	DEL	ENST00000406854.1	37																																																																																					0.358	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		-	60591443	T	-	60591443	7	5	242	1	0	1	0	1	0	0	0	0	1747	1725	60	0	1878	0	C14orf135	14	60591443	Frame_Shift_Del	DEL	T	TCGA-B2-3924-01A-02D-1386-10		60591443	46758097	43	14723											
MAPKBP1	23005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42107967	42107967	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr15:42107967T>A	ENST00000456763.2	+	13	1677	c.1481T>A	c.(1480-1482)cTa>cAa	p.L494Q	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.L371Q|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.L327Q|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.L488Q|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.L488Q	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	494								p.L488Q(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGACAGCATCTAGCATCAGGG	0.572																																																1	Substitution - Missense(1)	kidney(1)											81	73	75					15																	42107967		2203	4300	6503	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1481T>A	15.37:g.42107967T>A	ENSP00000393099:p.Leu494Gln		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	t	31	5.082578	0.94050	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.75154	4.27;-0.31;0.43;-0.91;0.43	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.066131	0.64402	D	0.000007	D	0.90407	0.6997	H	0.95151	3.63	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.986;0.999;0.998	D	0.93155	0.6553	10	0.87932	D	0	-6.1328	16.1882	0.81967	0.0:0.0:0.0:1.0	.	327;488;494;488	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	Q	488;371;327;494;488	ENSP00000397570:L488Q;ENSP00000221214:L371Q;ENSP00000260357:L327Q;ENSP00000393099:L494Q;ENSP00000426154:L488Q	ENSP00000221214:L371Q	L	+	2	0	MAPKBP1	39895259	1.000000	0.71417	0.983000	0.44433	0.944000	0.59088	8.037000	0.88933	2.231000	0.72958	0.454000	0.30748	CTA		0.572	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		A	42107967	T	A	42107967	3	1	242	1	0	0	0	0	1	0	0	0	9294	1522	53	5	1527	5	MAPKBP1	15	42107967	Missense_Mutation	SNP	T	TCGA-B2-3924-01A-02D-1386-10		42107967	60423425	44	14724											
MAN2C1	4123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75659878	75659878	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr15:75659878C>G	ENST00000267978.5	-	3	371	c.325G>C	c.(325-327)Gtg>Ctg	p.V109L	MAN2C1_ENST00000569482.1_Missense_Mutation_p.V109L|MAN2C1_ENST00000565683.1_Missense_Mutation_p.V109L|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V109L|RP11-817O13.8_ENST00000563278.1_lincRNA|MAN2C1_ENST00000563539.1_5'UTR	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	109					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V109L(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TCACGCCACACCAGACCTTCT	0.572																																																1	Substitution - Missense(1)	kidney(1)											160	119	133					15																	75659878		2197	4294	6491	SO:0001583	missense	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.325G>C	15.37:g.75659878C>G	ENSP00000267978:p.Val109Leu		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721256	0.48728	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.22539	1.95	4.7	3.72	0.42706	.	0.072182	0.53938	D	0.000042	T	0.18509	0.0444	L	0.41236	1.265	0.47441	D	0.99942	B;B;B	0.15719	0.014;0.008;0.008	B;B;B	0.15052	0.012;0.007;0.007	T	0.04373	-1.0956	10	0.39692	T	0.17	-23.4198	13.809	0.63250	0.1529:0.8471:0.0:0.0	.	109;109;109	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	L	109	ENSP00000267978:V109L	ENSP00000267978:V109L	V	-	1	0	MAN2C1	73446931	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.564000	0.53791	2.311000	0.77944	0.561000	0.74099	GTG		0.572	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			G	75659878	C	G	75659878	3	3	242	1	0	0	0	0	1	0	0	0	9220	507	18	4	2893	4	MAN2C1	15	75659878	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10	33551911	75659878	26871514	45	14725											
PSMA4	5685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78834926	78834926	+	Missense_Mutation	SNP	C	C	A	rs149336836		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr15:78834926C>A	ENST00000044462.7	+	4	298	c.148C>A	c.(148-150)Cgc>Agc	p.R50S	PSMA4_ENST00000558094.1_5'Flank|PSMA4_ENST00000558341.1_Missense_Mutation_p.R50S|PSMA4_ENST00000559082.1_Missense_Mutation_p.R50S|PSMA4_ENST00000558281.1_Missense_Mutation_p.R50S|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000560217.1_Missense_Mutation_p.R19S	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	50					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)	cytoplasmic mRNA processing body (GO:0000932)|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)	p.R50S(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AGCAGAGAGACGCAACATCCA	0.358																																																1	Substitution - Missense(1)	kidney(1)											162	165	164					15																	78834926		2196	4293	6489	SO:0001583	missense	5685			BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"Proteasome (prosome, macropain) subunits"	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.148C>A	15.37:g.78834926C>A	ENSP00000044462:p.Arg50Ser		D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366569	0.82463	.	.	ENSG00000041357	ENST00000044462	T	0.28069	1.63	5.65	4.72	0.59763	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.83312	2.635	0.80722	D	1	P	0.50528	0.936	P	0.52481	0.7	T	0.59568	-0.7430	10	0.87932	D	0	-18.9353	14.286	0.66247	0.1489:0.8511:0.0:0.0	.	50	P25789	PSA4_HUMAN	S	50	ENSP00000044462:R50S	ENSP00000044462:R50S	R	+	1	0	PSMA4	76621981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.426000	0.59882	1.364000	0.46038	0.655000	0.94253	CGC		0.358	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		A	78834926	C	A	78834926	3	1	242	1	0	0	0	0	1	0	0	0	12674	536	19	4	158	4	PSMA4	15	78834926	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10	3175048	78834926	23696466	46	14726											
C15orf42	90381	hgsc.bcm.edu;ucsc.edu	37	15	90168863	90168864	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr15:90168863_90168864insA	ENST00000268138.7	+	20	5427_5428	c.5322_5323insA	c.(5323-5325)agafs	p.R1775fs	TICRR_ENST00000560985.1_Frame_Shift_Ins_p.R1774fs|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1775					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTTCCAGGAAGAGAGTCCTGTT	0.545																																																0																																										SO:0001589	frameshift_variant	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.5323dupA	15.37:g.90168864_90168864dupA	ENSP00000268138:p.Arg1775fs		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Frame_Shift_Ins	INS	ENST00000268138.7	37	CCDS10352.2																																																																																				0.545	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		A	90168864	-	A	90168863	7	5	242	1	0	1	1	0	0	0	0	0	1798	933	33	0	5400	0	C15orf42	15	90168863	Frame_Shift_Ins	INS	-	TCGA-B2-3924-01A-02D-1386-10	11333937	90168863	12362529	47	14727											
CHD2	1106	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	93489310	93489310	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr15:93489310T>C	ENST00000394196.4	+	12	2309	c.1241T>C	c.(1240-1242)cTa>cCa	p.L414P	CHD2_ENST00000536619.1_Missense_Mutation_p.L427P|CHD2_ENST00000420239.2_Missense_Mutation_p.L414P|CHD2_ENST00000557381.1_Missense_Mutation_p.L414P	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	414	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.L414P(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCCGAATATCTATGTAAATGG	0.393																																																2	Substitution - Missense(2)	kidney(2)											76	78	77					15																	93489310		2197	4298	6495	SO:0001583	missense	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1241T>C	15.37:g.93489310T>C	ENSP00000377747:p.Leu414Pro		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457455	0.84317	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.2	5.2	0.72013	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.27991	U	0.017031	D	0.92993	0.7770	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.996;0.999;0.976	D	0.94614	0.7807	10	0.87932	D	0	-29.8649	15.3599	0.74464	0.0:0.0:0.0:1.0	.	427;414;414	B7Z3I4;O14647;O14647-2	.;CHD2_HUMAN;.	P	414;414;414;427	ENSP00000377747:L414P;ENSP00000451366:L414P;ENSP00000406581:L414P;ENSP00000443618:L427P	ENSP00000311700:L152P	L	+	2	0	CHD2	91290314	1.000000	0.71417	0.990000	0.47175	0.866000	0.49608	7.655000	0.83696	2.097000	0.63578	0.460000	0.39030	CTA		0.393	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		C	93489310	T	C	93489310	3	2	242	1	0	0	0	0	1	0	0	0	3327	1522	53	3	1283	3	CHD2	15	93489310	Missense_Mutation	SNP	T	TCGA-B2-3924-01A-02D-1386-10	3320447	93489310	9042082	48	14728											
SRL	6345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4245571	4245571	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr16:4245571C>T	ENST00000399609.3	-	5	605	c.593G>A	c.(592-594)cGc>cAc	p.R198H	SRL_ENST00000537996.1_Missense_Mutation_p.R156H	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	657	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R198L(1)|p.R198H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTGCTGCTTGCGGTTCTCGAT	0.448																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											133	130	131					16																	4245571		1917	4130	6047	SO:0001583	missense	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.593G>A	16.37:g.4245571C>T	ENSP00000382518:p.Arg198His			Missense_Mutation	SNP	ENST00000399609.3	37	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	30	5.058024	0.93846	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.95554	-3.74;-3.74	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.96024	0.8705	L	0.28274	0.84	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96761	0.9561	10	0.87932	D	0	-13.6132	19.0659	0.93110	0.0:1.0:0.0:0.0	.	198	Q86TD4-2	.	H	198;656;156	ENSP00000382518:R198H;ENSP00000440350:R156H	ENSP00000333285:R656H	R	-	2	0	SRL	4185572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.583000	0.82559	2.797000	0.96272	0.655000	0.94253	CGC		0.448	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		T	4245571	C	T	4245571	3	4	242	1	0	0	0	0	1	0	0	0	15155	768	27	1	836	1	SRL	16	4245571	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10		4245571	86109182	49	14729											
ATF7IP2	80063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10567377	10567377	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr16:10567377A>G	ENST00000396560.2	+	9	1695	c.1468A>G	c.(1468-1470)Aat>Gat	p.N490D	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.N490D|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.N490D|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.N34D|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.N490D	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.N490D(1)		large_intestine(3)	3						CAATTCTCCCAATGCTGAAGT	0.284																																																1	Substitution - Missense(1)	kidney(1)											73	80	78					16																	10567377		2196	4288	6484	SO:0001583	missense	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1468A>G	16.37:g.10567377A>G	ENSP00000379808:p.Asn490Asp		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	A	2.943	-0.218364	0.06101	.	.	ENSG00000166669	ENST00000396559;ENST00000543967;ENST00000396560;ENST00000356427;ENST00000324570	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.1	-4.32	0.03688	.	1.602270	0.03153	N	0.168197	T	0.20088	0.0483	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.11329	0.001;0.006	T	0.07520	-1.0768	10	0.20046	T	0.44	9.0E-4	1.2005	0.01883	0.4736:0.1305:0.1355:0.2603	.	490;490	Q5U623-2;Q5U623	.;MCAF2_HUMAN	D	490;34;490;490;490	ENSP00000379807:N490D;ENSP00000446119:N34D;ENSP00000379808:N490D;ENSP00000348799:N490D;ENSP00000322811:N490D	ENSP00000322811:N490D	N	+	1	0	ATF7IP2	10474878	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.095000	0.11077	-0.923000	0.03785	0.533000	0.62120	AAT		0.284	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		G	10567377	A	G	10567377	3	3	242	1	0	0	0	0	1	0	0	0	1088	130	5	3	1494	3	ATF7IP2	16	10567377	Missense_Mutation	SNP	A	TCGA-B2-3924-01A-02D-1386-10	6321806	10567377	79787376	50	14730											
C16orf62	57020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	19627466	19627466	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr16:19627466G>C	ENST00000251143.5	+	13	1066	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q	C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000438132.3_Missense_Mutation_p.E441Q|C16orf62_ENST00000448695.1_Missense_Mutation_p.E202Q|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000543152.1_Missense_Mutation_p.E101Q			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	352						integral component of membrane (GO:0016021)		p.E441Q(1)|p.E352Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACATCTCAAAGAAACCCTAAA	0.358																																																2	Substitution - Missense(2)	kidney(2)											99	101	100					16																	19627466		2197	4300	6497	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1054G>C	16.37:g.19627466G>C	ENSP00000251143:p.Glu352Gln		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37		.	.	.	.	.	.	.	.	.	.	G	26.6	4.751918	0.89753	.	.	ENSG00000103544	ENST00000438132;ENST00000251143;ENST00000448695	T;T;T	0.36157	1.27;1.27;1.27	5.53	5.53	0.82687	.	0.050375	0.85682	D	0.000000	T	0.48624	0.1510	M	0.63843	1.955	0.58432	D	0.999999	P;P	0.50272	0.933;0.893	P;P	0.49853	0.542;0.624	T	0.40001	-0.9586	9	.	.	.	-17.1402	19.0704	0.93134	0.0:0.0:1.0:0.0	.	352;441	Q7Z3J2;E7EWW0	CP062_HUMAN;.	Q	441;352;202	ENSP00000400815:E441Q;ENSP00000251143:E352Q;ENSP00000398009:E202Q	.	E	+	1	0	C16orf62	19534967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.388000	0.97237	2.599000	0.87857	0.655000	0.94253	GAA		0.358	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		C	19627466	G	C	19627466	3	2	242	1	0	0	0	0	1	0	0	0	1827	943	33	4	1104	4	C16orf62	16	19627466	Missense_Mutation	SNP	G	TCGA-B2-3924-01A-02D-1386-10	9060089	19627466	70727287	51	14731											
RBBP6	5930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24583192	24583192	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr16:24583192A>G	ENST00000319715.4	+	18	5237	c.4805A>G	c.(4804-4806)cAa>cGa	p.Q1602R	RBBP6_ENST00000348022.2_Missense_Mutation_p.Q1568R|RBBP6_ENST00000381039.3_Missense_Mutation_p.Q762R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1602					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1602R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GAAAAAGAGCAAATTACTGGG	0.388																																																1	Substitution - Missense(1)	kidney(1)											80	83	82					16																	24583192		2197	4300	6497	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4805A>G	16.37:g.24583192A>G	ENSP00000317872:p.Gln1602Arg		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	0.441	-0.898454	0.02472	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17370	2.28;2.54;2.54	5.94	-0.835	0.10775	.	0.713104	0.13447	N	0.387231	T	0.07458	0.0188	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20988	0.05;0.039;0.012	B;B;B	0.18871	0.023;0.023;0.01	T	0.39354	-0.9618	10	0.18710	T	0.47	-3.047	5.1575	0.15042	0.3811:0.439:0.0644:0.1155	.	762;1568;1602	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	R	762;1602;1568	ENSP00000370427:Q762R;ENSP00000317872:Q1602R;ENSP00000316291:Q1568R	ENSP00000317872:Q1602R	Q	+	2	0	RBBP6	24490693	0.001000	0.12720	0.133000	0.22050	0.259000	0.26198	0.066000	0.14489	-0.110000	0.12022	0.460000	0.39030	CAA		0.388	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		G	24583192	A	G	24583192	3	3	242	1	0	0	0	0	1	0	0	0	13109	130	5	3	4929	3	RBBP6	16	24583192	Missense_Mutation	SNP	A	TCGA-B2-3924-01A-02D-1386-10	4955726	24583192	65771561	52	14732											
MYO15A	51168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18044110	18044110	+	Silent	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:18044110C>T	ENST00000205890.5	+	21	5708	c.5370C>T	c.(5368-5370)ccC>ccT	p.P1790P	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1790	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P1790P(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGTGCAACCCCTTGTTCATGC	0.567											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											102	107	106					17																	18044110		2056	4202	6258	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5370C>T	17.37:g.18044110C>T		722	B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				0.567	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18044110	C	T	18044110	2	4	242	1	0	0	0	0	0	0	0	1	10065	668	24	2		2	MYO15A	17	18044110	Silent	SNP	C	TCGA-B2-3924-01A-02D-1386-10		18044110	63151100	53	14733											
SSH2	85464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27977810	27977810	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:27977810T>C	ENST00000269033.3	-	12	1158	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.Y363C	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	336	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y336C(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTCAAGATATACCGTACCCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											135	125	128					17																	27977810		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1007A>G	17.37:g.27977810T>C	ENSP00000269033:p.Tyr336Cys		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395292	0.83011	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	D;D	0.86230	-2.09;-2.09	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.91466	0.7306	L	0.53780	1.695	0.80722	D	1	P;P;D	0.56746	0.938;0.926;0.977	P;P;D	0.65874	0.808;0.796;0.939	D	0.92286	0.5837	10	0.87932	D	0	-12.2384	16.2026	0.82095	0.0:0.0:0.0:1.0	.	363;336;336	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	C	336;363;336	ENSP00000269033:Y336C;ENSP00000444743:Y363C	ENSP00000269033:Y336C	Y	-	2	0	SSH2	25001936	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.997000	0.88414	2.285000	0.76669	0.533000	0.62120	TAT		0.413	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		C	27977810	T	C	27977810	3	2	242	1	0	0	0	0	1	0	0	0	15190	1406	49	3	3280	3	SSH2	17	27977810	Missense_Mutation	SNP	T	TCGA-B2-3924-01A-02D-1386-10	9933700	27977810	53217400	54	14734											
SLC4A1	6521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42328875	42328875	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:42328875G>A	ENST00000262418.6	-	18	2548	c.2393C>T	c.(2392-2394)aCg>aTg	p.T798M	AC003102.1_ENST00000399246.2_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	798	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.T798M(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCTGAGCGACGTGACCCCCAT	0.597																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											120	107	112					17																	42328875		2203	4300	6503	SO:0001583	missense	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2393C>T	17.37:g.42328875G>A	ENSP00000262418:p.Thr798Met		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506118	0.85282	.	.	ENSG00000004939	ENST00000262418	T	0.80824	-1.42	5.22	5.22	0.72569	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84419	0.5468	M	0.67517	2.055	0.80722	D	1	P	0.52692	0.955	P	0.49451	0.611	D	0.85900	0.1434	10	0.56958	D	0.05	.	18.7637	0.91864	0.0:0.0:1.0:0.0	.	798	P02730	B3AT_HUMAN	M	798	ENSP00000262418:T798M	ENSP00000262418:T798M	T	-	2	0	SLC4A1	39684401	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	7.786000	0.85741	2.579000	0.87056	0.561000	0.74099	ACG		0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		A	42328875	G	A	42328875	3	1	242	1	0	0	0	0	1	0	0	0	14656	1145	40	1	354	1	SLC4A1	17	42328875	Missense_Mutation	SNP	G	TCGA-B2-3924-01A-02D-1386-10	14351065	42328875	38866335	55	14735											
ANKFN1	162282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	54452062	54452062	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:54452062A>G	ENST00000318698.2	+	7	941	c.906A>G	c.(904-906)gtA>gtG	p.V302V	ANKFN1_ENST00000566473.2_Silent_p.V302V	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	302	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.V302V(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAGCTGTAGTAACCAGGTATA	0.443																																																1	Substitution - coding silent(1)	kidney(1)											163	144	150					17																	54452062		2203	4300	6503	SO:0001819	synonymous_variant	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.906A>G	17.37:g.54452062A>G				Silent	SNP	ENST00000318698.2	37	CCDS32686.1																																																																																				0.443	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		G	54452062	A	G	54452062	2	3	242	1	0	0	0	0	0	0	0	1	625	349	13	3		3	ANKFN1	17	54452062	Silent	SNP	A	TCGA-B2-3924-01A-02D-1386-10	12123187	54452062	26743148	56	14736											
AKAP1	8165	hgsc.bcm.edu	37	17	55183751	55183771	+	In_Frame_Del	DEL	GCTTGGATAGAAATGAGGAGG	GCTTGGATAGAAATGAGGAGG	-	rs138803240|rs373354322		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	GCTTGGATAGAAATGAGGAGG	GCTTGGATAGAAATGAGGAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:55183751_55183771delGCTTGGATAGAAATGAGGAGG	ENST00000337714.3	+	2	1159_1179	c.926_946delGCTTGGATAGAAATGAGGAGG	c.(925-948)agcttggatagaaatgaggagggc>agc	p.LDRNEEG317del	AKAP1_ENST00000539273.1_In_Frame_Del_p.LDRNEEG317del|AKAP1_ENST00000314126.3_In_Frame_Del_p.LDRNEEG317del|AKAP1_ENST00000571629.1_In_Frame_Del_p.LDRNEEG317del|AKAP1_ENST00000572557.1_In_Frame_Del_p.LDRNEEG317del	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	317					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G316S(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AATGAGGAGAGCTTGGATAGAAATGAGGAGGGCTTGGATAG	0.538																																																1	Substitution - Missense(1)	ovary(1)																																								SO:0001651	inframe_deletion	8165			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.926_946delGCTTGGATAGAAATGAGGAGG	17.37:g.55183751_55183771delGCTTGGATAGAAATGAGGAGG	ENSP00000337736:p.Leu317_Gly323del		A8K8Q1|D3DTZ0|Q13320|Q9BW14	In_Frame_Del	DEL	ENST00000337714.3	37	CCDS11594.1																																																																																				0.538	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			-	55183771	GCTTGGATAGAAATGAGGAGG	-	55183751	7	5	242	1	0	1	0	1	0	0	0	0	445	971	34	0	928	0	AKAP1	17	55183751	In_Frame_Del	DEL	GCTTGGATAGAAATGAGGAGG	TCGA-B2-3924-01A-02D-1386-10	731689	55183751	26011459	57	14737											
NPLOC4	55666	broad.mit.edu;ucsc.edu	37	17	79589205	79589205	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:79589205A>T	ENST00000331134.6	-	3	411	c.196T>A	c.(196-198)Ttg>Atg	p.L66M	NPLOC4_ENST00000539314.1_De_novo_Start_OutOfFrame|NPLOC4_ENST00000374747.5_Missense_Mutation_p.L66M	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	66					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L66M(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATTTTTAGCAAGTTGAGGGAT	0.468																																																1	Substitution - Missense(1)	kidney(1)											105	101	102					17																	79589205		1878	4121	5999	SO:0001583	missense	55666			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.196T>A	17.37:g.79589205A>T	ENSP00000331487:p.Leu66Met		Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943795	0.53079	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	5.21	3.12	0.35913	Nuclear pore localisation protein Npl4, ubiquitin-like domain (1);	0.145674	0.47093	D	0.000254	T	0.34337	0.0894	N	0.22421	0.69	0.80722	D	1	P;P	0.48764	0.834;0.915	P;P	0.47528	0.537;0.549	T	0.10245	-1.0638	9	0.46703	T	0.11	-9.3966	4.069	0.09874	0.5162:0.2293:0.2545:0.0	.	66;66	Q8TAT6-2;Q8TAT6	.;NPL4_HUMAN	M	66;65	.	ENSP00000331487:L66M	L	-	1	2	NPLOC4	77199610	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	0.859000	0.27858	0.523000	0.28482	0.482000	0.46254	TTG		0.468	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			T	79589205	A	T	79589205	3	4	242	1	0	0	0	0	1	0	0	0	10588	69	3	5	1690	5	NPLOC4	17	79589205	Missense_Mutation	SNP	A	TCGA-B2-3924-01A-02D-1386-10	24405454	79589205	1606005	58	14738											
EMILIN2	84034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	2891711	2891711	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr18:2891711G>C	ENST00000254528.3	+	4	1745	c.1586G>C	c.(1585-1587)gGg>gCg	p.G529A		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	529					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.G529A(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGAGTGTCAGGGTCAGGAGAT	0.527																																																1	Substitution - Missense(1)	kidney(1)											70	72	71					18																	2891711		2203	4300	6503	SO:0001583	missense	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1586G>C	18.37:g.2891711G>C	ENSP00000254528:p.Gly529Ala		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.042046	0.35989	.	.	ENSG00000132205	ENST00000254528	T	0.34275	1.37	5.23	4.34	0.51931	.	0.243125	0.35407	N	0.003232	T	0.41213	0.1149	M	0.76002	2.32	0.37943	D	0.932406	B	0.18310	0.027	B	0.24006	0.05	T	0.40289	-0.9571	10	0.25106	T	0.35	-24.2578	15.6916	0.77457	0.0:0.1374:0.8626:0.0	.	529	Q9BXX0	EMIL2_HUMAN	A	529	ENSP00000254528:G529A	ENSP00000254528:G529A	G	+	2	0	EMILIN2	2881711	0.247000	0.23920	0.022000	0.16811	0.005000	0.04900	1.003000	0.29809	1.157000	0.42530	0.563000	0.77884	GGG		0.527	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		C	2891711	G	C	2891711	3	2	242	1	0	0	0	0	1	0	0	0	5096	1232	43	4	1600	4	EMILIN2	18	2891711	Missense_Mutation	SNP	G	TCGA-B2-3924-01A-02D-1386-10		2891711	75185537	59	14739											
TTC9B	148014	broad.mit.edu	37	19	40723224	40723224	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr19:40723224A>G	ENST00000311308.6	-	2	497	c.480T>C	c.(478-480)tgT>tgC	p.C160C		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	160					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.C160C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GTACCTTGAGACAGTACTCGC	0.657																																																1	Substitution - coding silent(1)	kidney(1)											98	70	79					19																	40723224		2203	4300	6503	SO:0001819	synonymous_variant	148014			BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"Tetratricopeptide (TTC) repeat domain containing"	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.480T>C	19.37:g.40723224A>G			A8K0I5|Q96NP9	Silent	SNP	ENST00000311308.6	37	CCDS12550.1																																																																																				0.657	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479		G	40723224	A	G	40723224	2	3	242	1	0	0	0	0	0	0	0	1	16721	273	10	3		3	TTC9B	19	40723224	Silent	SNP	A	TCGA-B2-3924-01A-02D-1386-10		40723224	18405759	60	14740											
C19orf61	56006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44237823	44237823	+	Silent	SNP	G	G	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr19:44237823G>A	ENST00000270066.6	-	11	1507	c.1165C>T	c.(1165-1167)Ctg>Ttg	p.L389L	SMG9_ENST00000601170.1_Silent_p.L389L	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	389					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)	p.L389L(1)		kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TCAATCATCAGGTGCATCTGC	0.567																																																1	Substitution - coding silent(1)	kidney(1)											82	79	80					19																	44237823		2203	4300	6503	SO:0001819	synonymous_variant	0			BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"chromosome 19 open reading frame 61", "smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.1165C>T	19.37:g.44237823G>A			O60429|Q9H9A9	Silent	SNP	ENST00000270066.6	37	CCDS33043.2																																																																																				0.567	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108		A	44237823	G	A	44237823	2	1	242	1	0	0	0	0	0	0	0	1	1945	991	35	2		2	C19orf61	19	44237823	Silent	SNP	G	TCGA-B2-3924-01A-02D-1386-10	3514599	44237823	14891160	61	14741											
CPNE1	8904	broad.mit.edu;ucsc.edu	37	20	34214664	34214664	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr20:34214664T>G	ENST00000317619.3	-	17	1692	c.1298A>C	c.(1297-1299)gAg>gCg	p.E433A	CPNE1_ENST00000397445.1_Missense_Mutation_p.E433A|CPNE1_ENST00000397443.1_Missense_Mutation_p.E433A|CPNE1_ENST00000317677.5_Missense_Mutation_p.E438A|CPNE1_ENST00000397442.1_Missense_Mutation_p.E433A|CPNE1_ENST00000397446.1_Missense_Mutation_p.E433A|CPNE1_ENST00000352393.4_Missense_Mutation_p.E433A			Q99829	CPNE1_HUMAN	copine I	433	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.E433A(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CACCACAGCCTCACGTGTGGC	0.567																																																1	Substitution - Missense(1)	kidney(1)											162	106	125					20																	34214664		2203	4300	6503	SO:0001583	missense	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1298A>C	20.37:g.34214664T>G	ENSP00000326126:p.Glu433Ala		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354301	0.61293	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340	T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.27	5.27	0.74061	von Willebrand factor, type A (1);Copine (1);	0.465199	0.22614	U	0.057791	T	0.26268	0.0641	L	0.42008	1.315	0.34600	D	0.716424	B;B;B;B;B	0.15719	0.0;0.001;0.014;0.004;0.01	B;B;B;B;B	0.25759	0.004;0.005;0.063;0.021;0.02	T	0.26744	-1.0094	10	0.49607	T	0.09	-9.4262	14.3138	0.66434	0.0:0.0:0.0:1.0	.	438;433;433;413;432	B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0	.;.;CPNE1_HUMAN;.;.	A	433;438;433;433;433;433;433;432	ENSP00000336945:E433A;ENSP00000317257:E438A;ENSP00000326126:E433A;ENSP00000380588:E433A;ENSP00000380587:E433A;ENSP00000380585:E433A;ENSP00000380584:E433A;ENSP00000415597:E432A	ENSP00000326126:E433A	E	-	2	0	CPNE1	33678078	0.783000	0.28701	0.995000	0.50966	0.897000	0.52465	4.875000	0.63072	2.209000	0.71365	0.460000	0.39030	GAG		0.567	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		G	34214664	T	G	34214664	3	3	242	1	0	0	0	0	1	0	0	0	3813	1551	54	5	323	5	CPNE1	20	34214664	Missense_Mutation	SNP	T	TCGA-B2-3924-01A-02D-1386-10		34214664	28810856	62	14742											
TMEM189	387522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	48760154	48760154	+	Silent	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr20:48760154C>T	ENST00000341698.2	-	2	125	c.126G>A	c.(124-126)aaG>aaA	p.K42K	TMEM189_ENST00000557021.1_Silent_p.K42K|TMEM189_ENST00000371652.4_Silent_p.K42K|TMEM189_ENST00000371650.5_Silent_p.K42K	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CCTGGAGGCGCTTGCCTGCAG	0.577																																																0													61	55	57					20																	48760154		2203	4300	6503	SO:0001819	synonymous_variant	387521			U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.126G>A	20.37:g.48760154C>T				Silent	SNP	ENST00000341698.2	37	CCDS13424.1																																																																																				0.577	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			T	48760154	C	T	48760154	2	4	242	1	0	0	0	0	0	0	0	1	16116	796	28	2		2	TMEM189	20	48760154	Silent	SNP	C	TCGA-B2-3924-01A-02D-1386-10	14545490	48760154	14265366	63	14743											
KRTAP10-6	386674	broad.mit.edu	37	21	46012291	46012291	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr21:46012291A>G	ENST00000400368.1	-	1	95	c.75T>C	c.(73-75)tgT>tgC	p.C25C	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	25						keratin filament (GO:0045095)		p.C25C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGCAAGAGTCACAGGAACCAG	0.677																																																1	Substitution - coding silent(1)	kidney(1)											55	60	59					21																	46012291		2108	4212	6320	SO:0001819	synonymous_variant	386674			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.75T>C	21.37:g.46012291A>G				Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																				0.677	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		G	46012291	A	G	46012291	2	3	242	1	0	0	0	0	0	0	0	1	8515	157	6	3		3	KRTAP10-6	21	46012291	Silent	SNP	A	TCGA-B2-3924-01A-02D-1386-10		46012291	2117604	64	14744											
SEPT5	5413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	19707850	19707850	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr22:19707850C>G	ENST00000455784.2	+	6	495	c.370C>G	c.(370-372)Ccc>Gcc	p.P124A	SEPT5_ENST00000406395.1_Missense_Mutation_p.P124A|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_Missense_Mutation_p.P133A|SEPT5_ENST00000383045.3_Missense_Mutation_p.P133A	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	124	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.P124A(1)		lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CAGCTGGAAGCCCATCACCGA	0.597																																																1	Substitution - Missense(1)	kidney(1)											114	100	104					22																	19707850		2203	4300	6503	SO:0001583	missense	5413			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.370C>G	22.37:g.19707850C>G	ENSP00000391311:p.Pro124Ala		O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	CCDS13764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.184|8.184	0.794578|0.794578	0.16327|0.16327	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000413258|ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	.|T;T;T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.01|4.01	1.82|1.82	0.25136|0.25136	.|.	.|0.064498	.|0.64402	.|D	.|0.000006	T|T	0.50820|0.50820	0.1638|0.1638	L|L	0.55743|0.55743	1.74|1.74	0.51767|0.51767	D|D	0.99993|0.99993	.|B	.|0.25486	.|0.127	.|B	.|0.43478	.|0.421	T|T	0.49899|0.49899	-0.8890|-0.8890	5|10	.|0.46703	.|T	.|0.11	.|.	9.2374|9.2374	0.37475|0.37475	0.2919:0.5669:0.1412:0.0|0.2919:0.5669:0.1412:0.0	.|.	.|124	.|Q99719	.|SEPT5_HUMAN	G|A	20|124;124;95;77;162;133;133;77	.|ENSP00000391311:P124A;ENSP00000384535:P124A;ENSP00000408678:P77A;ENSP00000414488:P162A;ENSP00000372515:P133A;ENSP00000394541:P133A;ENSP00000378541:P77A	.|ENSP00000372515:P133A	A|P	+|+	2|1	0|0	SEPT5|SEPT5	18087850|18087850	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.018000|0.018000	0.09664|0.09664	3.539000|3.539000	0.53604|0.53604	0.431000|0.431000	0.26258|0.26258	-0.311000|-0.311000	0.09066|0.09066	GCC|CCC		0.597	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		G	19707850	C	G	19707850	3	3	242	1	0	0	0	0	1	0	0	0	14073	739	26	4	392	4	SEPT5	22	19707850	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10		19707850	31596716	65	14745											
SLC2A11	66035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24226915	24226915	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr22:24226915C>A	ENST00000345044.6	+	12	1638	c.1370C>A	c.(1369-1371)cCt>cAt	p.P457H	SLC2A11_ENST00000398356.2_Missense_Mutation_p.P464H|AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000316185.8_Missense_Mutation_p.P460H			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	457					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.P464H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTGTTCCTTCCTGAGACCAAA	0.562																																																1	Substitution - Missense(1)	kidney(1)											160	145	150					22																	24226915		2203	4300	6503	SO:0001583	missense	66035			AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"Solute carriers"	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.1370C>A	22.37:g.24226915C>A	ENSP00000342542:p.Pro457His		E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	ENST00000345044.6	37	CCDS46673.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739226	0.69304	.	.	ENSG00000133460	ENST00000345044;ENST00000398356;ENST00000316185	T;T;T	0.80033	-1.33;-1.33;-1.33	3.25	3.25	0.37280	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93033	0.6450	10	0.87932	D	0	.	14.3177	0.66463	0.0:1.0:0.0:0.0	.	460;457;464	Q9BYW1-3;Q9BYW1;E9PH55	.;GTR11_HUMAN;.	H	457;464;460	ENSP00000342542:P457H;ENSP00000381399:P464H;ENSP00000326748:P460H	ENSP00000326748:P460H	P	+	2	0	SLC2A11	22556915	0.996000	0.38824	0.900000	0.35374	0.877000	0.50540	4.412000	0.59787	2.149000	0.67028	0.603000	0.83216	CCT		0.562	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		A	24226915	C	A	24226915	3	1	242	1	0	0	0	0	1	0	0	0	14546	681	24	4	1496	4	SLC2A11	22	24226915	Missense_Mutation	SNP	C	TCGA-B2-3924-01A-02D-1386-10	4519065	24226915	27077651	66	14746											
C22orf30	253143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32112375	32112375	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr22:32112375G>C	ENST00000327423.6	-	4	1639	c.1450C>G	c.(1450-1452)Caa>Gaa	p.Q484E	PRR14L_ENST00000434485.1_Missense_Mutation_p.Q484E|PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000397493.2_Missense_Mutation_p.Q484E	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	484								p.Q484E(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AAGTTACCTTGAACGTGTACA	0.368											OREG0003537	type=REGULATORY REGION|Gene=NM_032234|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				2	Substitution - Missense(2)	kidney(2)											84	72	75					22																	32112375		692	1591	2283	SO:0001583	missense	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.1450C>G	22.37:g.32112375G>C	ENSP00000331845:p.Gln484Glu	829	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	CCDS13900.2	.	.	.	.	.	.	.	.	.	.	G	4.534	0.099097	0.08681	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.06687	3.27;3.27;3.27	5.4	4.37	0.52481	.	0.388740	0.21895	N	0.067537	T	0.10937	0.0267	L	0.47716	1.5	0.09310	N	1	P;P;P	0.40180	0.705;0.573;0.573	B;B;B	0.41510	0.359;0.164;0.164	T	0.10064	-1.0646	9	.	.	.	0.0	13.7361	0.62817	0.0:0.1539:0.8461:0.0	.	484;484;484	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	E	484	ENSP00000380630:Q484E;ENSP00000331845:Q484E;ENSP00000388314:Q484E	.	Q	-	1	0	PRR14L	30442375	0.008000	0.16893	0.007000	0.13788	0.002000	0.02628	0.848000	0.27710	1.388000	0.46506	0.655000	0.94253	CAA		0.368	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		C	32112375	G	C	32112375	3	2	242	1	0	0	0	0	1	0	0	0	2144	1299	45	4	5029	4	C22orf30	22	32112375	Missense_Mutation	SNP	G	TCGA-B2-3924-01A-02D-1386-10	7885460	32112375	19192191	67	14747											
PKDREJ	10343	broad.mit.edu	37	22	46654831	46654831	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr22:46654831A>G	ENST00000253255.5	-	1	4388	c.4389T>C	c.(4387-4389)tcT>tcC	p.S1463S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1463					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.S1463S(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCTTTTGAGGAGATACCTCCT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											108	100	103					22																	46654831		2203	4300	6503	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4389T>C	22.37:g.46654831A>G			B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																				0.428	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		G	46654831	A	G	46654831	2	3	242	1	0	0	0	0	0	0	0	1	11972	291	11	3		3	PKDREJ	22	46654831	Silent	SNP	A	TCGA-B2-3924-01A-02D-1386-10	14542456	46654831	4649735	68	14748											
EIF2S3	1968	hgsc.bcm.edu	37	X	24073090	24073091	+	In_Frame_Ins	INS	-	-	GGG			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chrX:24073090_24073091insGGG	ENST00000253039.4	+	1	258_259	c.5_6insGGG	c.(4-9)gcgggc>gcGGGgggc	p.4_5insG		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	4					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GGCAACATGGCGGGCGGAGAAG	0.609											OREG0019714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001652	inframe_insertion	1968			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.6_8dupGGG	X.37:g.24073091_24073093dupGGG	ENSP00000253039:p.Gly4_Gly4dup	768	B5BTZ4	In_Frame_Ins	INS	ENST00000253039.4	37	CCDS14210.1																																																																																				0.609	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		GGG	24073091	-	GGG	24073090	7	5	242	1	0	1	1	0	0	0	0	0	5013	768	27	0	7	0	EIF2S3	23	24073090	In_Frame_Ins	INS	-	TCGA-B2-3924-01A-02D-1386-10		24073090	131197470	69	14749											
TMLHE	55217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	154754204	154754205	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chrX:154754204_154754205GA>AG	ENST00000334398.3	-	3	415_416	c.270_271TC>CT	c.(268-273)acTCac>acCTac	p.H91Y	TMLHE_ENST00000369439.4_Missense_Mutation_p.H91Y|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	91					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)	p.T90T(1)|p.H91Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTGCGCTGGTGAGTCTTAGAGT	0.485																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	55217			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.270_271delinsAG	X.37:g.154754204_154754205delinsAG	ENSP00000335261:p.His91Tyr		A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation|Silent	SNP	ENST00000334398.3	37	CCDS14768.1																																																																																				0.485	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		AG	154754205	GA	AG	154754204	3	1	242	1	0	0	0	0	1	0	0	0	16237	1290	45	2	1158	2	TMLHE	23	154754204	Missense_Mutation	DNP	GA	TCGA-B2-3924-01A-02D-1386-10	130681114	154754204	516356	70	14750											
TNFRSF4	7293	broad.mit.edu;hgsc.bcm.edu	37	1	1149473	1149473	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr1:1149473G>T	ENST00000379236.3	-	1	39	c.35C>A	c.(34-36)cCg>cAg	p.P12Q	TNFRSF4_ENST00000453580.1_5'Flank	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	12					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCCGCACACGGCCCGCGGCC	0.687																																																0													11	14	13					1																	1149473		2166	4257	6423	SO:0001583	missense	7293			X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"Tumor necrosis factor receptor superfamily", "CD molecules"	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.35C>A	1.37:g.1149473G>T	ENSP00000368538:p.Pro12Gln		Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37	CCDS11.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899231	0.33535	.	.	ENSG00000186827	ENST00000379236	T	0.61158	0.13	2.69	2.69	0.31865	.	0.917030	0.09077	N	0.851928	T	0.68897	0.3051	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54043	-0.8352	10	0.56958	D	0.05	-10.5799	8.9169	0.35587	0.0:0.0:1.0:0.0	.	12	P43489	TNR4_HUMAN	Q	12	ENSP00000368538:P12Q	ENSP00000368538:P12Q	P	-	2	0	TNFRSF4	1139336	0.001000	0.12720	0.008000	0.14137	0.011000	0.07611	0.272000	0.18644	1.532000	0.49169	0.491000	0.48974	CCG		0.687	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			T	1149473	G	T	1149473	3	4	243	1	0	0	0	0	1	0	0	0	16302	1116	39	4	826	4	TNFRSF4	1	1149473	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-01D-1458-08		1149473	248101148	1	14751											
HSPG2	3339	broad.mit.edu	37	1	22166039	22166039	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr1:22166039G>C	ENST00000374695.3	-	73	9793	c.9714C>G	c.(9712-9714)agC>agG	p.S3238R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3238	Ig-like C2-type 18.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGGCGCGGGGCTGCCTGTGG	0.647																																																0													39	38	38					1																	22166039		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9714C>G	1.37:g.22166039G>C	ENSP00000363827:p.Ser3238Arg		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	3.643	-0.073131	0.07228	.	.	ENSG00000142798	ENST00000374695	T	0.67523	-0.27	5.5	4.59	0.56863	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.150229	0.30979	N	0.008500	T	0.51261	0.1664	N	0.21142	0.635	0.32402	N	0.551841	B;P	0.39044	0.002;0.656	B;B	0.37198	0.014;0.243	T	0.58487	-0.7628	10	0.21014	T	0.42	.	14.4737	0.67533	0.0:0.2793:0.7207:0.0	.	1178;3238	Q59EG0;P98160	.;PGBM_HUMAN	R	3238	ENSP00000363827:S3238R	ENSP00000363827:S3238R	S	-	3	2	HSPG2	22038626	0.987000	0.35691	1.000000	0.80357	0.129000	0.20672	0.413000	0.21148	1.330000	0.45394	-0.257000	0.10917	AGC		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		C	22166039	G	C	22166039	3	2	243	1	0	0	0	0	1	0	0	0	7432	1194	42	4	3561	4	HSPG2	1	22166039	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-01D-1458-08	21016566	22166039	227084582	2	14752											
CIB4	130106	broad.mit.edu;hgsc.bcm.edu	37	2	26806745	26806745	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr2:26806745A>G	ENST00000288861.4	-	5	403	c.350T>C	c.(349-351)aTt>aCt	p.I117T	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	117	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.I117T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTCATCAATGAAGCCATT	0.532																																																1	Substitution - Missense(1)	kidney(1)											96	89	91					2																	26806745		2203	4300	6503	SO:0001583	missense	130106				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"EF-hand domain containing"	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.350T>C	2.37:g.26806745A>G	ENSP00000288861:p.Ile117Thr		B2RU18	Missense_Mutation	SNP	ENST00000288861.4	37	CCDS33160.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.216271	0.58452	.	.	ENSG00000157884	ENST00000288861;ENST00000403670;ENST00000405346	T	0.78126	-1.15	5.53	4.36	0.52297	EF-hand-like domain (1);	0.000000	0.64402	D	0.000019	D	0.90896	0.7139	H	0.97415	4	0.41118	D	0.985799	D	0.71674	0.998	D	0.74023	0.982	D	0.91239	0.5020	10	0.87932	D	0	.	8.7577	0.34656	0.8315:0.0:0.0:0.1685	.	117	A0PJX0	CIB4_HUMAN	T	117;72;119	ENSP00000288861:I117T	ENSP00000288861:I117T	I	-	2	0	CIB4	26660249	0.997000	0.39634	0.917000	0.36280	0.914000	0.54420	4.623000	0.61247	0.919000	0.36945	-0.333000	0.08304	ATT		0.532	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324709.1			G	26806745	A	G	26806745	3	3	243	1	0	0	0	0	1	0	0	0	3425	101	4	3	219	3	CIB4	2	26806745	Missense_Mutation	SNP	A	TCGA-B2-4098-01A-01D-1458-08		26806745	216392628	3	14753											
SIX3	6496	broad.mit.edu;hgsc.bcm.edu	37	2	45171737	45171737	+	Silent	SNP	C	C	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr2:45171737C>A	ENST00000260653.3	+	2	1179	c.837C>A	c.(835-837)ggC>ggA	p.G279G	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	279					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCGAGCGGCATGCGCTCGC	0.756																																																0													5	6	6					2																	45171737		1688	3619	5307	SO:0001819	synonymous_variant	6496			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.837C>A	2.37:g.45171737C>A			D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	CCDS1821.1																																																																																				0.756	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		A	45171737	C	A	45171737	2	1	243	1	0	0	0	0	0	0	0	1	14354	697	25	4		4	SIX3	2	45171737	Silent	SNP	C	TCGA-B2-4098-01A-01D-1458-08	18364992	45171737	198027636	4	14754											
CEP68	23177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	65299148	65299148	+	Silent	SNP	T	T	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr2:65299148T>G	ENST00000377990.2	+	3	1121	c.918T>G	c.(916-918)acT>acG	p.T306T	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Silent_p.T306T|CEP68_ENST00000546106.1_Silent_p.T306T	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	306					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.T306T(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTGACTATACTTACCCACTGA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											73	85	81					2																	65299148		2203	4300	6503	SO:0001819	synonymous_variant	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.918T>G	2.37:g.65299148T>G			B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	CCDS1880.2																																																																																				0.577	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		G	65299148	T	G	65299148	2	3	243	1	0	0	0	0	0	0	0	1	3260	1596	56	5		5	CEP68	2	65299148	Silent	SNP	T	TCGA-B2-4098-01A-01D-1458-08	20127411	65299148	177900225	5	14755											
NFE2L2	4780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178098799	178098799	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr2:178098799T>G	ENST00000397062.3	-	2	800	c.246A>C	c.(244-246)gaA>gaC	p.E82D	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66D|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66D|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82D(8)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTGGGAGAAATTCACCTGTCT	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	9	Substitution - Missense(8)|Deletion - In frame(1)	endometrium(3)|liver(2)|upper_aerodigestive_tract(1)|cervix(1)|oesophagus(1)|kidney(1)											138	137	137					2																	178098799		1903	4104	6007	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.246A>C	2.37:g.178098799T>G	ENSP00000380252:p.Glu82Asp		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706902	0.89018	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.67;1.67;1.53	5.78	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.87180	2.865	0.54753	D	0.999981	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	D;D;D;D	0.83275	0.991;0.978;0.996;0.991	T	0.64976	-0.6280	10	0.72032	D	0.01	.	11.2269	0.48888	0.0:0.0712:0.0:0.9288	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	D	66;82;66;66;66;66	ENSP00000380253:E66D;ENSP00000380252:E82D;ENSP00000411575:E66D;ENSP00000400073:E66D;ENSP00000412191:E66D;ENSP00000410015:E66D	ENSP00000380252:E82D	E	-	3	2	NFE2L2	177807045	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.909000	0.39917	2.210000	0.71456	0.460000	0.39030	GAA		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		G	178098799	T	G	178098799	3	3	243	1	0	0	0	0	1	0	0	0	10370	1490	52	5	1587	5	NFE2L2	2	178098799	Missense_Mutation	SNP	T	TCGA-B2-4098-01A-01D-1458-08	112799651	178098799	65100574	6	14756											
B3GNT7	93010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	232263303	232263303	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr2:232263303G>C	ENST00000287590.5	+	2	1134	c.873G>C	c.(871-873)aaG>aaC	p.K291N		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	291					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.K291N(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGTACGGCAAGGCCAGCTATC	0.647																																																1	Substitution - Missense(1)	kidney(1)											26	32	30					2																	232263303		1973	4134	6107	SO:0001583	missense	93010			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.873G>C	2.37:g.232263303G>C	ENSP00000287590:p.Lys291Asn		B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851606	0.32699	.	.	ENSG00000156966	ENST00000287590	T	0.42131	0.98	5.05	5.05	0.67936	.	0.194734	0.53938	D	0.000054	T	0.46444	0.1393	L	0.40543	1.245	0.58432	D	0.999997	D	0.57571	0.98	P	0.62813	0.907	T	0.32771	-0.9894	10	0.22109	T	0.4	.	7.397	0.26942	0.1874:0.0:0.8126:0.0	.	291	Q8NFL0	B3GN7_HUMAN	N	291	ENSP00000287590:K291N	ENSP00000287590:K291N	K	+	3	2	B3GNT7	231971547	0.998000	0.40836	0.830000	0.32933	0.177000	0.22998	2.541000	0.45735	2.355000	0.79922	0.561000	0.74099	AAG		0.647	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		C	232263303	G	C	232263303	3	2	243	1	0	0	0	0	1	0	0	0	1262	991	35	4	879	4	B3GNT7	2	232263303	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-01D-1458-08	54164504	232263303	10936070	7	14757											
GLB1	2720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33038793	33038793	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr3:33038793G>A	ENST00000399402.3	-	16	1819	c.1688C>T	c.(1687-1689)cCa>cTa	p.P563L	GLB1_ENST00000307363.5_Missense_Mutation_p.P593L|GLB1_ENST00000307377.8_Missense_Mutation_p.P462L|GLB1_ENST00000445488.2_Missense_Mutation_p.P641L	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	593					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.P593L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GCCCCGGGCTGGCCAATAGCG	0.587																																																1	Substitution - Missense(1)	kidney(1)											40	41	41					3																	33038793		1906	4118	6024	SO:0001583	missense	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1688C>T	3.37:g.33038793G>A	ENSP00000382333:p.Pro563Leu		B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693553	0.88735	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.31	4.43	0.53597	Galactose-binding domain-like (1);	0.102175	0.64402	D	0.000002	D	0.97324	0.9125	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.996;0.991;0.985	D	0.97620	1.0135	10	0.72032	D	0.01	-10.5365	13.2546	0.60070	0.0775:0.0:0.9225:0.0	.	593;462;593;641	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	L	563;593;641;462	ENSP00000382333:P563L;ENSP00000306920:P593L;ENSP00000393377:P641L;ENSP00000305920:P462L	ENSP00000306920:P593L	P	-	2	0	GLB1	33013797	1.000000	0.71417	0.745000	0.31077	0.984000	0.73092	9.602000	0.98312	1.249000	0.43950	0.456000	0.33151	CCA		0.587	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		A	33038793	G	A	33038793	3	1	243	1	0	0	0	0	1	0	0	0	6429	1348	47	2	259	2	GLB1	3	33038793	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-01D-1458-08		33038793	164983637	8	14758											
LRRC33	375387	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196388312	196388313	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr3:196388312_196388313GG>AT	ENST00000328557.4	+	3	2001_2002	c.1798_1799GG>AT	c.(1798-1800)GGg>ATg	p.G600M		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	600					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G600V(2)|p.G600R(1)									TGACTGCTGTGGGGTGGATGGC	0.609																																																3	Substitution - Missense(3)	lung(2)|kidney(1)																																								SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	Exception_encountered	3.37:g.196388312_196388313delinsAT	ENSP00000328625:p.Gly600Met			Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1																																																																																				0.609	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		AT	196388313	GG	AT	196388312	3	1	243	1	0	0	0	0	1	0	0	0	8990	1348	47	2	1804	2	LRRC33	3	196388312	Missense_Mutation	DNP	GG	TCGA-B2-4098-01A-01D-1458-08	163349519	196388312	1634118	9	14759											
SEC31A	22872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83788377	83788377	+	Silent	SNP	A	A	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr4:83788377A>G	ENST00000395310.2	-	9	1157	c.975T>C	c.(973-975)gaT>gaC	p.D325D	SEC31A_ENST00000505472.1_Silent_p.D325D|SEC31A_ENST00000508502.1_Silent_p.D325D|SEC31A_ENST00000513858.1_Silent_p.D325D|SEC31A_ENST00000508479.1_Silent_p.D325D|SEC31A_ENST00000509142.1_Silent_p.D325D|SEC31A_ENST00000505984.1_Silent_p.D325D|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Silent_p.D325D|SEC31A_ENST00000348405.4_Silent_p.D325D|SEC31A_ENST00000500777.2_Silent_p.D325D|SEC31A_ENST00000443462.2_Silent_p.D320D|SEC31A_ENST00000311785.7_Silent_p.D325D|SEC31A_ENST00000432794.1_Silent_p.D325D|SEC31A_ENST00000326950.5_Silent_p.D325D|SEC31A_ENST00000448323.1_Silent_p.D325D|SEC31A_ENST00000264405.5_Silent_p.D97D	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	325	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.D325D(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TGATACGCCCATCAAACGAAG	0.418																																																2	Substitution - coding silent(2)	kidney(2)											130	115	120					4																	83788377		2203	4300	6503	SO:0001819	synonymous_variant	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.975T>C	4.37:g.83788377A>G			B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	CCDS3596.1																																																																																				0.418	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		G	83788377	A	G	83788377	2	3	243	1	0	0	0	0	0	0	0	1	14004	214	8	3		3	SEC31A	4	83788377	Silent	SNP	A	TCGA-B2-4098-01A-01D-1458-08		83788377	107365899	10	14760											
SORBS2	8470	hgsc.bcm.edu;ucsc.edu	37	4	186545056	186545067	+	In_Frame_Del	DEL	CATGTCCCGGGG	CATGTCCCGGGG	-	rs532835164|rs141059121		TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	CATGTCCCGGGG	CATGTCCCGGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr4:186545056_186545067delCATGTCCCGGGG	ENST00000284776.7	-	13	2013_2024	c.1504_1515delCCCCGGGACATG	c.(1504-1515)ccccgggacatgdel	p.PRDM502del	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000431808.1_In_Frame_Del_p.PRDM502del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.PRDM406del|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.PRDM602del|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	502					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTGTGGGCACCATGTCCCGGGGCACCTCCTCC	0.575																																					Esophageal Squamous(153;41 2433 9491 36028)											0																																										SO:0001651	inframe_deletion	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1504_1515delCCCCGGGACATG	4.37:g.186545056_186545067delCATGTCCCGGGG	ENSP00000284776:p.Pro502_Met505del		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	CCDS3845.1																																																																																				0.575	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		-	186545067	CATGTCCCGGGG	-	186545056	7	5	243	1	0	1	0	1	0	0	0	0	14934	594	21	0	1823	0	SORBS2	4	186545056	In_Frame_Del	DEL	CATGTCCCGGGG	TCGA-B2-4098-01A-01D-1458-08	102756679	186545056	4609220	11	14761											
ATXN1	6310	broad.mit.edu;ucsc.edu	37	6	16327452	16327452	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr6:16327452G>C	ENST00000244769.4	-	8	2026	c.1090C>G	c.(1090-1092)Cac>Gac	p.H364D	ATXN1_ENST00000436367.1_Missense_Mutation_p.H364D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	364					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGGCTCGGGTGGACCACCACG	0.687																																																0													81	91	88					6																	16327452		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1090C>G	6.37:g.16327452G>C	ENSP00000244769:p.His364Asp		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457063	0.63401	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	D;D	0.82711	-1.64;-1.64	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	L	0.34521	1.04	0.43965	D	0.996643	D	0.63880	0.993	D	0.72338	0.977	D	0.86398	0.1740	10	0.59425	D	0.04	-21.9414	17.7777	0.88514	0.0:0.0:1.0:0.0	.	364	P54253	ATX1_HUMAN	D	364	ENSP00000244769:H364D;ENSP00000416360:H364D	ENSP00000244769:H364D	H	-	1	0	ATXN1	16435431	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.347000	0.79356	2.184000	0.69523	0.561000	0.74099	CAC		0.687	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		C	16327452	G	C	16327452	3	2	243	1	0	0	0	0	1	0	0	0	1209	1348	47	4	1365	4	ATXN1	6	16327452	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-01D-1458-08		16327452	154787615	12	14762											
GNMT	27232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	42931107	42931107	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr6:42931107G>A	ENST00000372808.3	+	5	646	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	212					cellular protein modification process (GO:0006464)|glycogen metabolic process (GO:0005977)|methionine metabolic process (GO:0006555)|one-carbon metabolic process (GO:0006730)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|S-adenosylmethionine metabolic process (GO:0046500)	cytoplasm (GO:0005737)	folic acid binding (GO:0005542)|glycine binding (GO:0016594)|glycine N-methyltransferase activity (GO:0017174)	p.V212V(1)		kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	TGCTGATAGTGAACAACAAGG	0.592																																																1	Substitution - coding silent(1)	kidney(1)											53	45	48					6																	42931107		2203	4300	6503	SO:0001819	synonymous_variant	27232			AF101475	CCDS4876.1	6p12	2008-02-05			ENSG00000124713	ENSG00000124713			4415	protein-coding gene	gene with protein product		606628				10843803, 9495250	Standard	NM_018960		Approved		uc003otd.3	Q14749	OTTHUMG00000014712	ENST00000372808.3:c.636G>A	6.37:g.42931107G>A			Q5T8W2|Q9NNZ1|Q9NS24	Silent	SNP	ENST00000372808.3	37	CCDS4876.1																																																																																				0.592	GNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040568.1	NM_018960		A	42931107	G	A	42931107	2	1	243	1	0	0	0	0	0	0	0	1	6542	1277	45	2		2	GNMT	6	42931107	Silent	SNP	G	TCGA-B2-4098-01A-01D-1458-08	26603655	42931107	128183960	13	14763											
KIAA1244	57221	hgsc.bcm.edu	37	6	138657590	138657591	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr6:138657590_138657591delCA	ENST00000251691.4	+	34	6667_6668	c.6501_6502delCA	c.(6499-6504)ggcaggfs	p.R2168fs		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGTGGCTGGGCAGGGTGGGCCG	0.569																																																0																																										SO:0001589	frameshift_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6501_6502delCA	6.37:g.138657590_138657591delCA	ENSP00000251691:p.Arg2168fs			Frame_Shift_Del	DEL	ENST00000251691.4	37	CCDS5189.2																																																																																				0.569	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		-	138657591	CA	-	138657590	7	5	243	1	0	1	0	1	0	0	0	0	8219	697	25	0	6635	0	KIAA1244	6	138657590	Frame_Shift_Del	DEL	CA	TCGA-B2-4098-01A-01D-1458-08	95726483	138657590	32457477	14	14764											
MEPCE	56257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100031142	100031142	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr7:100031142T>A	ENST00000310512.2	+	4	2423	c.2035T>A	c.(2035-2037)Tac>Aac	p.Y679N	RP11-758P17.2_ENST00000492523.1_RNA|RP11-758P17.3_ENST00000475250.1_RNA|MEPCE_ENST00000414441.1_Missense_Mutation_p.Y210N|PPP1R35_ENST00000476185.1_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	679	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.Y679N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGTCCTGTGTACCTGTTCCA	0.587																																																1	Substitution - Missense(1)	kidney(1)											70	70	70					7																	100031142		2203	4300	6503	SO:0001583	missense	56257			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.2035T>A	7.37:g.100031142T>A	ENSP00000308546:p.Tyr679Asn		B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719543	0.68844	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	.	.	.	5.29	4.13	0.48395	Bin3-type S-adenosyl-L-methionine binding domain (1);Bicoid-interacting 3 (1);	0.158139	0.44097	D	0.000482	T	0.68751	0.3035	M	0.68317	2.08	0.45076	D	0.998099	D	0.89917	1.0	D	0.72338	0.977	T	0.66555	-0.5894	9	0.37606	T	0.19	-27.2854	7.628	0.28222	0.0:0.0943:0.0:0.9057	.	679	Q7L2J0	MEPCE_HUMAN	N	210;210;679	.	ENSP00000308546:Y679N	Y	+	1	0	MEPCE	99869078	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.413000	0.73308	1.028000	0.39785	0.379000	0.24179	TAC		0.587	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			A	100031142	T	A	100031142	3	1	243	1	0	0	0	0	1	0	0	0	9479	1638	57	5	2049	5	MEPCE	7	100031142	Missense_Mutation	SNP	T	TCGA-B2-4098-01A-01D-1458-08		100031142	59107521	15	14765											
RPS20	6224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	56986629	56986629	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr8:56986629G>A	ENST00000521262.1	-	2	346	c.93C>T	c.(91-93)tcC>tcT	p.S31S	RPS20_ENST00000009589.3_Silent_p.S31S|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000519807.1_Silent_p.S31S|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000518875.1_Silent_p.S31S|RPS20_ENST00000523936.1_Silent_p.S31S|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000519606.1_Silent_p.S31S|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000520627.1_Intron			P60866	RS20_HUMAN	ribosomal protein S20	31					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.S31S(2)					all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CCTTTTCCAAGGATTTTACGT	0.488																																																2	Substitution - coding silent(2)	kidney(2)											81	87	85					8																	56986629		2203	4300	6503	SO:0001819	synonymous_variant	6224			L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"S ribosomal proteins"	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.93C>T	8.37:g.56986629G>A			B2R4F4|B4DW28|P17075|Q5M8S9	Silent	SNP	ENST00000521262.1	37																																																																																					0.488	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1	NM_001023		A	56986629	G	A	56986629	2	1	243	1	0	0	0	0	0	0	0	1	13638	987	35	2		2	RPS20	8	56986629	Silent	SNP	G	TCGA-B2-4098-01A-01D-1458-08		56986629	89377393	16	14766											
YME1L1	10730	hgsc.bcm.edu	37	10	27436462	27436463	+	Frame_Shift_Del	DEL	GC	GC	-	rs74970402|rs200312868|rs398102294	byFrequency	TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr10:27436462_27436463delGC	ENST00000326799.3	-	3	451_452	c.303_304delGC	c.(301-306)tggcacfs	p.WH101fs	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000477432.1_Frame_Shift_Del_p.WH101fs	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	101					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGACGGAtgtgccagttatcgg	0.441														533	0.10643	0.3888	0.0274	5008	,	,		20833	0.0		0.0	False		,,,				2504	0.0															0									,	1408,2856		237,934,961					,	1.1	0		dbSNP_131	197	44,8210		0,44,4083	yes	frameshift,intron	YME1L1	NM_139312.1,NM_014263.2	,	237,978,5044	A1A1,A1R,RR		0.5331,33.0206,11.5993	,	,		1452,11066				SO:0001589	frameshift_variant	10730			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.303_304delGC	10.37:g.27436462_27436463delGC	ENSP00000318480:p.Trp101fs		B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Frame_Shift_Del	DEL	ENST00000326799.3	37	CCDS7152.1																																																																																				0.441	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		-	27436463	GC	-	27436462	7	5	243	1	0	1	0	1	0	0	0	0	17492	1319	46	0	2089	0	YME1L1	10	27436462	Frame_Shift_Del	DEL	GC	TCGA-B2-4098-01A-01D-1458-08		27436462	108098285	17	14767											
ZDHHC16	84287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99211881	99211881	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr10:99211881C>T	ENST00000370854.3	+	3	467	c.278C>T	c.(277-279)tCc>tTc	p.S93F	ZDHHC16_ENST00000393760.1_Missense_Mutation_p.S93F|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.S93F|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.S93F|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.S93F|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.S93F	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	93					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S93F(1)		kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CTGACAGGCTCCATTGTAGCT	0.547																																																1	Substitution - Missense(1)	kidney(1)											166	116	133					10																	99211881		2203	4300	6503	SO:0001583	missense	84287			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.278C>T	10.37:g.99211881C>T	ENSP00000359891:p.Ser93Phe		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	CCDS7460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.74|17.74	3.464558|3.464558	0.63513|0.63513	.|.	.|.	ENSG00000171307|ENSG00000171307	ENST00000420089;ENST00000417044|ENST00000370854;ENST00000393760;ENST00000414567;ENST00000370846;ENST00000352634;ENST00000353979;ENST00000370842	.|T;T;T;T;T;T;T	.|0.35789	.|1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58566|0.58566	0.2131|0.2131	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|D;D;D;P;P;P	.|0.89917	.|1.0;1.0;0.998;0.811;0.778;0.671	.|D;D;D;P;B;B	.|0.91635	.|0.999;0.993;0.991;0.693;0.398;0.224	T|T	0.51748|0.51748	-0.8666|-0.8666	5|10	.|0.10902	.|T	.|0.67	-27.601|-27.601	19.4725|19.4725	0.94969|0.94969	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|93;93;68;93;93;93	.|B4DNL2;B1AMU0;B1AMU1;Q969W1-3;Q969W1-2;Q969W1	.|.;.;.;.;.;ZDH16_HUMAN	S|F	69;35|93	.|ENSP00000359891:S93F;ENSP00000377357:S93F;ENSP00000400719:S93F;ENSP00000359883:S93F;ENSP00000345383:S93F;ENSP00000323360:S93F;ENSP00000359879:S93F	.|ENSP00000345383:S93F	P|S	+|+	1|2	0|0	ZDHHC16|ZDHHC16	99201871|99201871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	5.943000|5.943000	0.70211|0.70211	2.611000|2.611000	0.88343|0.88343	0.561000|0.561000	0.74099|0.74099	CCA|TCC		0.547	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		T	99211881	C	T	99211881	3	4	243	1	0	0	0	0	1	0	0	0	17611	855	30	2	284	2	ZDHHC16	10	99211881	Missense_Mutation	SNP	C	TCGA-B2-4098-01A-01D-1458-08	71775419	99211881	36322866	18	14768											
CDHR5	53841	hgsc.bcm.edu	37	11	617406	617407	+	In_Frame_Ins	INS	-	-	CGCCCT	rs146893811	byFrequency	TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr11:617406_617407insCGCCCT	ENST00000358353.3	-	16	2804_2805	c.2482_2483insAGGGCG	c.(2482-2484)gcg>gAGGGCGcg	p.827_828insEG	IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000349570.7_In_Frame_Ins_p.633_634insEG|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_In_Frame_Ins_p.827_828insEG|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397566.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	827					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACCCCTCCCCGCGCCCTCGCCC	0.698														49	0.00978435	0.034	0.0043	5008	,	,		12225	0.001		0.0	False		,,,				2504	0.0															0									,,	117,4087		2,113,1987					,,	1.9	0		dbSNP_134	25	47,8153		0,47,4053	no	coding,coding,coding	CDHR5	NM_031264.3,NM_021924.4,NM_001171968.1	,,	2,160,6040	A1A1,A1R,RR		0.5732,2.7831,1.3222	,,	,,		164,12240				SO:0001652	inframe_insertion	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2477_2482dupAGGGCG	11.37:g.617407_617412dupCGCCCT	ENSP00000351118:p.Glu826_Gly827dup		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	In_Frame_Ins	INS	ENST00000358353.3	37	CCDS7707.1																																																																																				0.698	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		CGCCCT	617407	-	CGCCCT	617406	7	5	243	1	0	1	1	0	0	0	0	0	3124	1087	38	0	58	0	CDHR5	11	617406	In_Frame_Ins	INS	-	TCGA-B2-4098-01A-01D-1458-08		617406	134389110	19	14769											
IGF2	3481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	2154815	2154815	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr11:2154815G>A	ENST00000416167.2	-	3	1404	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	IGF2_ENST00000381392.1_Silent_p.L83L|IGF2_ENST00000381389.1_Silent_p.L80L|IGF2_ENST00000418738.2_Silent_p.L80L|IGF2_ENST00000300632.5_Silent_p.L80L|IGF2_ENST00000381395.1_Silent_p.L80L|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381406.4_Silent_p.L83L|IGF2_ENST00000434045.2_Silent_p.L136L			P01344	IGF2_HUMAN	insulin-like growth factor 2	80	A.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)	p.L80L(1)|p.L136L(1)		central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TACGTCTCCAGGAGGGCCAGG	0.657																																																2	Substitution - coding silent(2)	kidney(2)											52	43	46					11																	2154815		2202	4299	6501	SO:0001819	synonymous_variant	3481			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"somatomedin A"	147470	"chromosome 11 open reading frame 43"	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.238C>T	11.37:g.2154815G>A			B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Silent	SNP	ENST00000416167.2	37	CCDS7728.1																																																																																				0.657	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		A	2154815	G	A	2154815	2	1	243	1	0	0	0	0	0	0	0	1	7574	991	35	2		2	IGF2	11	2154815	Silent	SNP	G	TCGA-B2-4098-01A-01D-1458-08	1537409	2154815	132851701	20	14770											
GPR152	390212	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	67220120	67220120	+	Missense_Mutation	SNP	A	A	C	rs199732498		TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr11:67220120A>C	ENST00000312457.2	-	1	80	c.76T>G	c.(76-78)Tac>Gac	p.Y26D	CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000325656.5_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTTGGGGGTAGGAGTCCTCA	0.652																																					Pancreas(102;800 1581 2723 7382 33622)											0													54	55	55					11																	67220120		2194	4283	6477	SO:0001583	missense	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.76T>G	11.37:g.67220120A>C	ENSP00000310255:p.Tyr26Asp		Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242417	0.58995	.	.	ENSG00000175514	ENST00000312457	T	0.16196	2.36	5.07	5.07	0.68467	.	0.219602	0.23123	N	0.051673	T	0.17280	0.0415	L	0.27053	0.805	0.80722	D	1	P	0.48162	0.906	P	0.47402	0.546	T	0.01715	-1.1289	10	0.40728	T	0.16	.	12.8053	0.57610	1.0:0.0:0.0:0.0	.	26	Q8TDT2	GP152_HUMAN	D	26	ENSP00000310255:Y26D	ENSP00000310255:Y26D	Y	-	1	0	GPR152	66976696	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	3.738000	0.55067	2.132000	0.65825	0.459000	0.35465	TAC		0.652	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			C	67220120	A	C	67220120	3	2	243	1	0	0	0	0	1	0	0	0	6660	420	15	5	1340	5	GPR152	11	67220120	Missense_Mutation	SNP	A	TCGA-B2-4098-01A-01D-1458-08	65065305	67220120	67786396	21	14771											
TSPAN19	144448	broad.mit.edu	37	12	85423547	85423547	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr12:85423547delC	ENST00000532498.2	-	3	169	c.89delG	c.(88-90)ggafs	p.G30fs	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	30						integral component of membrane (GO:0016021)				ovary(1)	1						TGCACCAAATCCCATGAATAA	0.259																																																0													31	29	29					12																	85423547		1725	3953	5678	SO:0001589	frameshift_variant	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.89delG	12.37:g.85423547delC	ENSP00000433816:p.Gly30fs			Frame_Shift_Del	DEL	ENST00000532498.2	37	CCDS44949.1																																																																																				0.259	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		-	85423547	C	-	85423547	7	5	243	1	0	1	0	1	0	0	0	0	16648	855	30	0	685	0	TSPAN19	12	85423547	Frame_Shift_Del	DEL	C	TCGA-B2-4098-01A-01D-1458-08		85423547	48428348	22	14772											
BTBD11	121551	hgsc.bcm.edu;ucsc.edu	37	12	107713815	107713815	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr12:107713815delG	ENST00000280758.5	+	1	1626	c.1098delG	c.(1096-1098)cagfs	p.Q366fs	BTBD11_ENST00000490090.2_Frame_Shift_Del_p.Q366fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.Q366fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	366						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTCTCCTGCAGCCCTACCAGC	0.617																																																0													30	34	33					12																	107713815		1984	3967	5951	SO:0001589	frameshift_variant	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1098delG	12.37:g.107713815delG	ENSP00000280758:p.Gln366fs		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Frame_Shift_Del	DEL	ENST00000280758.5	37	CCDS31893.1																																																																																				0.617	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		-	107713815	G	-	107713815	7	5	243	1	0	1	0	1	0	0	0	0	1541	962	34	0	1100	0	BTBD11	12	107713815	Frame_Shift_Del	DEL	G	TCGA-B2-4098-01A-01D-1458-08	22290268	107713815	26138080	23	14773											
GATC	51499	hgsc.bcm.edu	37	12	120884306	120884307	+	5'Flank	INS	-	-	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr12:120884306_120884307insG	ENST00000546954.1	-	0	0				TRIAP1_ENST00000302432.3_5'Flank|AL021546.6_ENST00000551806.1_Intron|GATC_ENST00000551765.1_Frame_Shift_Ins_p.LG8fs	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGTGTGGCTGGGCCTTCGGG	0.683																																																0																																										SO:0001631	upstream_gene_variant	283459				CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"p53-inducible cell-survival factor", "mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884309_120884309dupG	Exception_encountered		B2R4Z7|Q5RKS5|Q6LCA7	Frame_Shift_Ins	INS	ENST00000546954.1	37	CCDS9198.1																																																																																				0.683	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108980.3	NM_016399		G	120884307	-	G	120884306	6	5	243	0	1	1	1	0	0	0	0	0	6264	1580	55	0		0	GATC	12	120884306	5'Flank	INS	-	TCGA-B2-4098-01A-01D-1458-08	13170491	120884306	12967589	24	14774											
ARG2	384	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68086727	68086727	+	Silent	SNP	C	C	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr14:68086727C>G	ENST00000261783.3	+	1	213	c.33C>G	c.(31-33)ctC>ctG	p.L11L	Y_RNA_ENST00000364659.1_RNA|ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	11					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.L11L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CGCGTCTCCTCCAGACGCGAG	0.617																																																1	Substitution - coding silent(1)	kidney(1)											28	29	29					14																	68086727		2200	4295	6495	SO:0001819	synonymous_variant	384			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"arginase, type II"			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.33C>G	14.37:g.68086727C>G			B2R690|Q6FHY8	Silent	SNP	ENST00000261783.3	37	CCDS9785.1																																																																																				0.617	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		G	68086727	C	G	68086727	2	3	243	1	0	0	0	0	0	0	0	1	858	842	30	4		4	ARG2	14	68086727	Silent	SNP	C	TCGA-B2-4098-01A-01D-1458-08		68086727	39262813	25	14775											
ODF3L1	161753	hgsc.bcm.edu;ucsc.edu	37	15	76019407	76019407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr15:76019407delC	ENST00000332145.2	+	4	574	c.351delC	c.(349-351)aacfs	p.N117fs	DNM1P35_ENST00000501931.1_RNA	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	117										kidney(1)|lung(1)	2						CAGGCCTGAACCCCACCCTCG	0.592																																																0													102	117	112					15																	76019407		2195	4291	6486	SO:0001589	frameshift_variant	161753			BC039862	CCDS10285.1	15q23	2008-02-05			ENSG00000182950	ENSG00000182950			28735	protein-coding gene	gene with protein product							Standard	NM_175881		Approved	MGC48986	uc002bax.1	Q8IXM7	OTTHUMG00000142837	ENST00000332145.2:c.351delC	15.37:g.76019407delC	ENSP00000329584:p.Asn117fs			Frame_Shift_Del	DEL	ENST00000332145.2	37	CCDS10285.1																																																																																				0.592	ODF3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286473.1	NM_175881		-	76019407	C	-	76019407	7	5	243	1	0	1	0	1	0	0	0	0	10833	506	18	0	365	0	ODF3L1	15	76019407	Frame_Shift_Del	DEL	C	TCGA-B2-4098-01A-01D-1458-08		76019407	26511985	26	14776											
CORO1A	11151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30198495	30198495	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr16:30198495G>A	ENST00000219150.5	+	5	892	c.587G>A	c.(586-588)cGt>cAt	p.R196H	RP11-455F5.5_ENST00000566144.1_RNA|CORO1A_ENST00000570045.1_Missense_Mutation_p.R196H|RP11-455F5.5_ENST00000567153.1_RNA|CORO1A_ENST00000565497.1_Missense_Mutation_p.R196H|RP11-455F5.5_ENST00000568506.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	196					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R196H(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACCTCCTGCCGTGACAAGCGC	0.587																																																1	Substitution - Missense(1)	kidney(1)											73	68	70					16																	30198495		2197	4300	6497	SO:0001583	missense	11151			X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.587G>A	16.37:g.30198495G>A	ENSP00000219150:p.Arg196His		B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	28.2	4.901437	0.92035	.	.	ENSG00000102879	ENST00000219150	T	0.63096	-0.02	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052405	0.64402	D	0.000001	T	0.68348	0.2991	N	0.25825	0.765	0.42748	D	0.993761	D;D	0.76494	0.999;0.967	D;P	0.67725	0.953;0.875	T	0.72792	-0.4186	10	0.72032	D	0.01	-12.1923	17.0358	0.86474	0.0:0.0:1.0:0.0	.	252;196	Q59G88;P31146	.;COR1A_HUMAN	H	196	ENSP00000219150:R196H	ENSP00000219150:R196H	R	+	2	0	CORO1A	30105996	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	4.858000	0.62947	2.576000	0.86940	0.561000	0.74099	CGT		0.587	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		A	30198495	G	A	30198495	3	1	243	1	0	0	0	0	1	0	0	0	3755	1145	40	1	601	1	CORO1A	16	30198495	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-01D-1458-08		30198495	60156258	27	14777											
TMC8	147138	hgsc.bcm.edu	37	17	76127732	76127732	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr17:76127732G>A	ENST00000318430.5	+	2	437	c.63G>A	c.(61-63)ctG>ctA	p.L21L	TMC8_ENST00000589691.1_Intron|TMC6_ENST00000322914.3_Intron|TMC6_ENST00000322933.4_5'Flank|TMC6_ENST00000589553.1_5'Flank|TMC6_ENST00000590602.1_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	21					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CGGAGGAGCTGTGGGAGGCAG	0.736																																																0													7	9	9					17																	76127732		2111	4161	6272	SO:0001819	synonymous_variant	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.63G>A	17.37:g.76127732G>A			Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	CCDS32749.1																																																																																				0.736	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			A	76127732	G	A	76127732	2	1	243	1	0	0	0	0	0	0	0	1	15996	1364	48	2		2	TMC8	17	76127732	Silent	SNP	G	TCGA-B2-4098-01A-01D-1458-08		76127732	5067478	28	14778											
SSTR4	6754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	23016583	23016583	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr20:23016583G>A	ENST00000255008.3	+	1	527	c.463G>A	c.(463-465)Gcg>Acg	p.A155T	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	155					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCTGCGCGCGGCGACCTACCG	0.657																																					Esophageal Squamous(15;850 1104 16640)											0													48	52	50					20																	23016583		2200	4294	6494	SO:0001583	missense	6754				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.463G>A	20.37:g.23016583G>A	ENSP00000255008:p.Ala155Thr		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558611	0.27827	.	.	ENSG00000132671	ENST00000255008	T	0.71934	-0.61	3.87	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000009	T	0.58552	0.2130	L	0.41906	1.305	0.43187	D	0.995016	B	0.33379	0.41	B	0.37091	0.241	T	0.46665	-0.9175	10	0.30078	T	0.28	.	7.7421	0.28848	0.2367:0.0:0.7633:0.0	.	155	P31391	SSR4_HUMAN	T	155	ENSP00000255008:A155T	ENSP00000255008:A155T	A	+	1	0	SSTR4	22964583	0.995000	0.38212	0.013000	0.15412	0.023000	0.10783	2.270000	0.43355	0.227000	0.20999	0.655000	0.94253	GCG		0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			A	23016583	G	A	23016583	3	1	243	1	0	0	0	0	1	0	0	0	15205	1203	42	2	465	2	SSTR4	20	23016583	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-01D-1458-08		23016583	40008937	29	14779											
OGFR	11054	broad.mit.edu	37	20	61442846	61442846	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr20:61442846G>A	ENST00000290291.6	+	6	523	c.498G>A	c.(496-498)cgG>cgA	p.R166R	OGFR_ENST00000370461.1_Silent_p.R114R	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	166					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					TCCAGGAGCGGCTTGTCCGGG	0.632																																																0													19	22	21					20																	61442846		2194	4294	6488	SO:0001819	synonymous_variant	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.498G>A	20.37:g.61442846G>A			O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	0.826	-0.746779	0.03065	.	.	ENSG00000060491	ENST00000370469	.	.	.	4.56	-0.48	0.12085	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59177	-0.7503	5	0.87932	D	0	-32.982	5.7837	0.18320	0.2883:0.0:0.575:0.1366	.	.	.	.	D	22	.	ENSP00000359500:G22D	G	+	2	0	OGFR	60913291	0.755000	0.28372	0.080000	0.20451	0.014000	0.08584	-0.051000	0.11885	0.097000	0.17492	-0.254000	0.11334	GGC		0.632	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			A	61442846	G	A	61442846	2	1	243	1	0	0	0	0	0	0	0	1	10845	1190	42	2		2	OGFR	20	61442846	Silent	SNP	G	TCGA-B2-4098-01A-01D-1458-08	38426263	61442846	1582674	30	14780											
C22orf42	150297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32555106	32555106	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr22:32555106G>A	ENST00000382097.3	-	1	169	c.97C>T	c.(97-99)Cct>Tct	p.P33S	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	33								p.P33S(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ACAGTCTCAGGAATCTCACAC	0.577																																																1	Substitution - Missense(1)	kidney(1)											100	88	92					22																	32555106		2203	4300	6503	SO:0001583	missense	150297			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.97C>T	22.37:g.32555106G>A	ENSP00000371529:p.Pro33Ser		A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.767642	0.00645	.	.	ENSG00000205856	ENST00000382097	T	0.24151	1.87	0.131	-0.261	0.12963	.	.	.	.	.	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	P	0.39424	0.673	B	0.34991	0.193	T	0.17501	-1.0367	8	0.17832	T	0.49	.	.	.	.	.	33	Q6IC83	CV042_HUMAN	S	33	ENSP00000371529:P33S	ENSP00000371529:P33S	P	-	1	0	C22orf42	30885106	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.433000	0.01021	-1.335000	0.02241	-1.316000	0.01300	CCT		0.577	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		A	32555106	G	A	32555106	3	1	243	1	0	0	0	0	1	0	0	0	2151	1174	41	2	694	2	C22orf42	22	32555106	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-01D-1458-08		32555106	18749460	31	14781											
KDM6A	7403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	44949174	44949174	+	Splice_Site	DEL	A	A	-			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chrX:44949174delA	ENST00000377967.4	+	25	3776	c.3735delA	c.(3733-3735)aca>ac	p.T1245fs	KDM6A_ENST00000536777.1_Splice_Site_p.T1200fs|KDM6A_ENST00000543216.1_Splice_Site_p.T1166fs|KDM6A_ENST00000382899.4_Splice_Site_p.T1252fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1245	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTCCACTTACAGGTATTATAA	0.353			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											87	74	79					X																	44949174		2203	4300	6503	SO:0001630	splice_region_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3736+1A>-	X.37:g.44949174delA			Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	CCDS14265.1																																																																																				0.353	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Frame_Shift_Del	-	44949174	A	-	44949174	8	5	243	1	0	1	0	1	0	0	1	0	8139	202	7	0	3833	0	KDM6A	23	44949174	Splice_Site	DEL	A	TCGA-B2-4098-01A-01D-1458-08		44949174	110321386	32	14782											
YY1AP1	55249	broad.mit.edu;hgsc.bcm.edu	37	1	155640162	155640162	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr1:155640162A>T	ENST00000295566.4	-	8	898	c.875T>A	c.(874-876)cTg>cAg	p.L292Q	YY1AP1_ENST00000311573.5_Missense_Mutation_p.L215Q|YY1AP1_ENST00000359205.5_Missense_Mutation_p.L215Q|YY1AP1_ENST00000407221.1_Missense_Mutation_p.L215Q|YY1AP1_ENST00000347088.5_Missense_Mutation_p.L226Q|YY1AP1_ENST00000438245.2_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000405763.3_Missense_Mutation_p.L364Q|YY1AP1_ENST00000368340.5_Missense_Mutation_p.L364Q|YY1AP1_ENST00000361831.5_Missense_Mutation_p.L215Q|YY1AP1_ENST00000368339.5_Missense_Mutation_p.L364Q|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000404643.1_Missense_Mutation_p.L226Q|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.L226Q|YY1AP1_ENST00000535662.1_Missense_Mutation_p.L92Q|YY1AP1_ENST00000368330.2_Missense_Mutation_p.L226Q	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	292					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L292Q(1)|p.L364Q(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTTTGCCTTCAGGGAACACAC	0.453																																																2	Substitution - Missense(2)	kidney(2)											128	118	122					1																	155640162		2203	4300	6503	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.875T>A	1.37:g.155640162A>T	ENSP00000295566:p.Leu292Gln		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619859	0.66787	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662;ENST00000405763	T;T;T;T;T;T;T;T;T;T;T;T	0.48201	1.51;1.51;1.31;1.51;1.51;0.82;0.84;1.51;1.31;0.91;1.49;0.83	3.32	3.32	0.38043	.	0.000000	0.56097	D	0.000031	T	0.57007	0.2024	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.988;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.993;0.998;0.991;0.988;0.975;0.998;0.999	T	0.63157	-0.6700	10	0.87932	D	0	.	10.3735	0.44068	1.0:0.0:0.0:0.0	.	292;364;226;364;292;226;364	B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	Q	215;226;215;226;215;364;292;226;215;226;364;92;364	ENSP00000352134:L215Q;ENSP00000347686:L226Q;ENSP00000311138:L215Q;ENSP00000316079:L226Q;ENSP00000355298:L215Q;ENSP00000357324:L364Q;ENSP00000295566:L292Q;ENSP00000357314:L226Q;ENSP00000385791:L215Q;ENSP00000385390:L226Q;ENSP00000357323:L364Q;ENSP00000437926:L92Q	ENSP00000295566:L292Q	L	-	2	0	YY1AP1	153906786	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.917000	0.69989	1.498000	0.48600	0.455000	0.32223	CTG		0.453	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		T	155640162	A	T	155640162	3	4	244	1	0	0	0	0	1	0	0	0	17513	188	7	5	1591	5	YY1AP1	1	155640162	Missense_Mutation	SNP	A	TCGA-B2-4098-01A-02D-1386-10		155640162	93610459	1	14783											
C1orf25	81627	hgsc.bcm.edu;ucsc.edu	37	1	185094228	185094228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr1:185094228delA	ENST00000367506.5	-	12	1875	c.1607delT	c.(1606-1608)ttcfs	p.F536fs	TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	536	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCCAGTATTGAAAAGGGAACT	0.318																																																0													64	65	65					1																	185094228		2203	4300	6503	SO:0001589	frameshift_variant	0			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1607delT	1.37:g.185094228delA	ENSP00000356476:p.Phe536fs		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Frame_Shift_Del	DEL	ENST00000367506.5	37	CCDS1366.1																																																																																				0.318	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		-	185094228	A	-	185094228	7	5	244	1	0	1	0	1	0	0	0	0	2036	246	9	0	610	0	C1orf25	1	185094228	Frame_Shift_Del	DEL	A	TCGA-B2-4098-01A-02D-1386-10	29454066	185094228	64156393	2	14784											
ELK4	2005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205592865	205592865	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr1:205592865T>C	ENST00000357992.4	-	2	485	c.146A>G	c.(145-147)aAg>aGg	p.K49R	ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.K49R	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	49					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.K49R(2)	SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AGGCTTGTTCTTGCGAATCCC	0.448			T	SLC45A3	prostate																																		Dom	yes		1	1q32	2005	"ELK4, ETS-domain protein (SRF accessory protein 1)"		E	2	Substitution - Missense(2)	kidney(2)											188	192	191					1																	205592865		2203	4300	6503	SO:0001583	missense	2005			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.146A>G	1.37:g.205592865T>C	ENSP00000350681:p.Lys49Arg		P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	T	33	5.213945	0.95104	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.67345	-0.26;-0.26	5.58	5.58	0.84498	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	H	0.95679	3.705	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.994	D	0.90705	0.4623	10	0.87932	D	0	.	14.8649	0.70406	0.0:0.0:0.0:1.0	.	49;49	P28324-2;P28324	.;ELK4_HUMAN	R	139;49;49	ENSP00000350681:K49R;ENSP00000289703:K49R	ENSP00000289703:K49R	K	-	2	0	ELK4	203859488	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.242000	0.73789	0.533000	0.62120	AAG		0.448	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		C	205592865	T	C	205592865	3	2	244	1	0	0	0	0	1	0	0	0	5063	1609	56	3	1303	3	ELK4	1	205592865	Missense_Mutation	SNP	T	TCGA-B2-4098-01A-02D-1386-10	20498637	205592865	43657756	3	14785											
OR2W3	343171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	248059095	248059095	+	Silent	SNP	G	G	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr1:248059095G>T	ENST00000360358.3	+	1	207	c.207G>T	c.(205-207)ctG>ctT	p.L69L	OR2W3_ENST00000537741.1_Silent_p.L69L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L69L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTTCCTTCCTGGACCTCAGTT	0.577																																																1	Substitution - coding silent(1)	kidney(1)											202	159	174					1																	248059095		2203	4300	6503	SO:0001819	synonymous_variant	343171			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.207G>T	1.37:g.248059095G>T			Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	CCDS31099.1																																																																																				0.577	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		T	248059095	G	T	248059095	2	4	244	1	0	0	0	0	0	0	0	1	11035	1335	47	4		4	OR2W3	1	248059095	Silent	SNP	G	TCGA-B2-4098-01A-02D-1386-10	42466230	248059095	1191526	4	14786											
DNMT3A	1788	broad.mit.edu	37	2	25470497	25470497	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr2:25470497C>T	ENST00000264709.3	-	8	1314	c.977G>A	c.(976-978)cGc>cAc	p.R326H	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R103H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R326H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R137H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	326	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R326H(1)|p.R137H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGACCCAGCGGGTGCCTTC	0.632			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	2	Substitution - Missense(2)	kidney(2)											130	138	135					2																	25470497		2203	4300	6503	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.977G>A	2.37:g.25470497C>T	ENSP00000264709:p.Arg326His		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942286	0.92526	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	4.97	4.97	0.65823	PWWP (3);	0.000000	0.85682	D	0.000000	T	0.76026	0.3930	L	0.27975	0.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.976;1.0	T	0.77143	-0.2696	10	0.48119	T	0.1	-9.0594	16.948	0.86235	0.0:1.0:0.0:0.0	.	326;137	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	137;326;326;103	ENSP00000370122:R137H;ENSP00000324375:R326H;ENSP00000264709:R326H;ENSP00000384237:R103H	ENSP00000264709:R326H	R	-	2	0	DNMT3A	25324001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.853000	0.69496	2.584000	0.87258	0.462000	0.41574	CGC		0.632	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		T	25470497	C	T	25470497	3	4	244	1	0	0	0	0	1	0	0	0	4678	768	27	1	1825	1	DNMT3A	2	25470497	Missense_Mutation	SNP	C	TCGA-B2-4098-01A-02D-1386-10		25470497	217728876	5	14787											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179484778	179484778	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr2:179484778C>T	ENST00000591111.1	-	199	41667	c.41443G>A	c.(41443-41445)Gat>Aat	p.D13815N	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D15456N|TTN_ENST00000359218.5_Missense_Mutation_p.D6516N|TTN_ENST00000460472.2_Missense_Mutation_p.D6391N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12888N|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6583N			Q8WZ42	TITIN_HUMAN	titin	13815	Ig-like 94.				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)	p.D12888N(2)|p.D6583N(1)|p.D6391N(1)|p.D6516N(1)		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)			TCACACTCATCATCCAGCCTG	0.358																																																5	Substitution - Missense(5)	kidney(5)											131	121	125					2																	179484778		1855	4122	5977	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41443G>A	2.37:g.179484778C>T	ENSP00000465570:p.Asp13815Asn		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.87	3.241920	0.58995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94039	0.8090	H	0.97265	3.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95318	0.8418	9	0.87932	D	0	.	20.2886	0.98538	0.0:1.0:0.0:0.0	.	6391;6516;6583;13815	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	12888;6391;6583;6516;6391	ENSP00000343764:D12888N;ENSP00000434586:D6391N;ENSP00000340554:D6583N;ENSP00000352154:D6516N	ENSP00000340554:D6583N	D	-	1	0	TTN	179193023	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.718000	0.84743	2.882000	0.98803	0.655000	0.94253	GAT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179484778	C	T	179484778	3	4	244	1	0	0	0	0	1	0	0	0	16740	826	29	2	61783	2	TTN	2	179484778	Missense_Mutation	SNP	C	TCGA-B2-4098-01A-02D-1386-10	154014281	179484778	63714595	6	14788											
C2orf88	84281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191064624	191064624	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr2:191064624C>G	ENST00000340623.4	+	2	449	c.38C>G	c.(37-39)cCt>cGt	p.P13R	C2orf88_ENST00000409870.1_Missense_Mutation_p.P13R|C2orf88_ENST00000443551.2_Missense_Mutation_p.P13R|C2orf88_ENST00000396974.2_Missense_Mutation_p.P13R	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	13						plasma membrane (GO:0005886)		p.P13R(1)		kidney(1)|large_intestine(1)|lung(1)	3						TTCCCATTTCCTACCATATAT	0.433																																																1	Substitution - Missense(1)	kidney(1)											116	114	115					2																	191064624		1925	4136	6061	SO:0001583	missense	84281			BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"small membrane AKAP"	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.38C>G	2.37:g.191064624C>G	ENSP00000345107:p.Pro13Arg		D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000340623.4	37	CCDS42792.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136540	0.37728	.	.	ENSG00000187699	ENST00000450357;ENST00000396974;ENST00000409545;ENST00000409870;ENST00000340623;ENST00000443551	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.31	5.31	0.75309	.	0.240788	0.26450	U	0.024301	T	0.59390	0.2190	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	T	0.58521	-0.7622	8	.	.	.	-4.6543	11.4039	0.49885	0.18:0.82:0.0:0.0	.	13	Q9BSF0	CB088_HUMAN	R	13	ENSP00000394370:P13R;ENSP00000380172:P13R;ENSP00000386976:P13R;ENSP00000386649:P13R;ENSP00000345107:P13R;ENSP00000405225:P13R	.	P	+	2	0	C2orf88	190772869	0.797000	0.28877	0.958000	0.39756	0.004000	0.04260	1.664000	0.37439	2.755000	0.94549	0.650000	0.86243	CCT		0.433	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321		G	191064624	C	G	191064624	3	3	244	1	0	0	0	0	1	0	0	0	2204	681	24	4	40	4	C2orf88	2	191064624	Missense_Mutation	SNP	C	TCGA-B2-4098-01A-02D-1386-10	11579846	191064624	52134749	7	14789											
ILKAP	80895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	239102922	239102922	+	Missense_Mutation	SNP	C	C	T	rs573048716		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr2:239102922C>T	ENST00000254654.3	-	3	347	c.172G>A	c.(172-174)Gat>Aat	p.D58N	ILKAP_ENST00000490837.1_5'Flank	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	58					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.D58N(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTACCTGAATCGCCACTGCTA	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18511	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											62	62	62					2																	239102922		2203	4300	6503	SO:0001583	missense	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.172G>A	2.37:g.239102922C>T	ENSP00000254654:p.Asp58Asn		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	9.792	1.178200	0.21787	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.46063	1.88;0.88	5.8	3.01	0.34805	.	0.765438	0.13092	N	0.414478	T	0.22437	0.0541	N	0.19112	0.55	0.27588	N	0.949363	B	0.06786	0.001	B	0.04013	0.001	T	0.27673	-1.0067	10	0.07813	T	0.8	4.0485	6.5203	0.22271	0.0:0.6533:0.0:0.3467	.	58	Q9H0C8	ILKAP_HUMAN	N	58	ENSP00000254654:D58N;ENSP00000395301:D58N	ENSP00000254654:D58N	D	-	1	0	ILKAP	238767661	0.160000	0.22878	0.599000	0.28851	0.977000	0.68977	0.934000	0.28910	0.779000	0.33543	0.650000	0.86243	GAT		0.393	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		T	239102922	C	T	239102922	3	4	244	1	0	0	0	0	1	0	0	0	7716	884	31	1	1046	1	ILKAP	2	239102922	Missense_Mutation	SNP	C	TCGA-B2-4098-01A-02D-1386-10	48038298	239102922	4096451	8	14790											
ZPLD1	131368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	102157367	102157367	+	Silent	SNP	T	T	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr3:102157367T>C	ENST00000491959.1	+	9	918	c.36T>C	c.(34-36)atT>atC	p.I12I	ZPLD1_ENST00000466937.1_Silent_p.I12I|ZPLD1_ENST00000306176.1_Silent_p.I28I			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	12			I -> F (in dbSNP:rs6784362).			integral component of membrane (GO:0016021)		p.I28I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTCTAACAATTAGAGTGCTTC	0.433																																																1	Substitution - coding silent(1)	kidney(1)											151	134	139					3																	102157367		2203	4300	6503	SO:0001819	synonymous_variant	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.36T>C	3.37:g.102157367T>C			Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	37																																																																																					0.433	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		C	102157367	T	C	102157367	2	2	244	1	0	0	0	0	0	0	0	1	18226	1742	61	3		3	ZPLD1	3	102157367	Silent	SNP	T	TCGA-B2-4098-01A-02D-1386-10		102157367	95865063	9	14791											
UMPS	7372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	124457035	124457035	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr3:124457035G>A	ENST00000232607.2	+	3	1037	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	UMPS_ENST00000413078.2_Missense_Mutation_p.E133K|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000536109.1_Missense_Mutation_p.E219K|UMPS_ENST00000538242.1_Missense_Mutation_p.E133K	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	311	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)	p.E311K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	CTTGATATTTGAAGACCGGAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											67	71	70					3																	124457035		2196	4300	6496	SO:0001583	missense	7372				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.931G>A	3.37:g.124457035G>A	ENSP00000232607:p.Glu311Lys		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678094	0.88542	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.43	4.53	0.55603	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.113803	0.64402	D	0.000015	D	0.86863	0.6035	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.90778	0.4677	10	0.87932	D	0	-25.0311	13.8107	0.63262	0.0:0.0:0.8468:0.1532	.	133;133;311	B5LY72;B5LY70;P11172	.;.;UMPS_HUMAN	K	311;219;133;133	ENSP00000232607:E311K;ENSP00000443577:E219K;ENSP00000444988:E133K;ENSP00000397965:E133K	ENSP00000232607:E311K	E	+	1	0	UMPS	125939725	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.890000	0.92477	1.482000	0.48325	0.655000	0.94253	GAA		0.368	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		A	124457035	G	A	124457035	3	1	244	1	0	0	0	0	1	0	0	0	16986	1291	45	2	941	2	UMPS	3	124457035	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-02D-1386-10	22299668	124457035	73565395	10	14792											
RPN1	6184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128350832	128350832	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr3:128350832T>A	ENST00000296255.3	-	4	850	c.802A>T	c.(802-804)Aga>Tga	p.R268*	RPN1_ENST00000497289.1_Nonsense_Mutation_p.R96*	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	268					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)	p.R268*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TCTGGCTGTCTCTGGTAATCA	0.428			T	EVI1	AML																																		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	1	Substitution - Nonsense(1)	kidney(1)											133	121	125					3																	128350832		2203	4300	6503	SO:0001587	stop_gained	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.802A>T	3.37:g.128350832T>A	ENSP00000296255:p.Arg268*		B2R5Z0|D3DNB6|Q68DT1	Nonsense_Mutation	SNP	ENST00000296255.3	37	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926165	0.92319	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	4.86	3.62	0.41486	.	0.052433	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1119	10.3862	0.44140	0.0:0.0:0.3052:0.6948	.	.	.	.	X	268;96;39;242	.	ENSP00000296255:R268X	R	-	1	2	RPN1	129833522	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.375000	0.34295	1.820000	0.53075	0.402000	0.26972	AGA		0.428	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		A	128350832	T	A	128350832	4	1	244	1	0	0	0	0	0	1	0	0	13613	1559	54	5	1049	5	RPN1	3	128350832	Nonsense_Mutation	SNP	T	TCGA-B2-4098-01A-02D-1386-10	3893797	128350832	69671598	11	14793											
SKIL	6498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170110164	170110164	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr3:170110164A>C	ENST00000458537.3	+	6	2723	c.2014A>C	c.(2014-2016)Aag>Cag	p.K672Q	SKIL_ENST00000426052.2_Missense_Mutation_p.K652Q|SKIL_ENST00000413427.2_Missense_Mutation_p.K626Q|SKIL_ENST00000259119.4_Missense_Mutation_p.K672Q	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	672					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.K672Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAAAGAGCTAAAGCTGCAAAT	0.388																																																1	Substitution - Missense(1)	kidney(1)											103	112	109					3																	170110164		2203	4300	6503	SO:0001583	missense	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.2014A>C	3.37:g.170110164A>C	ENSP00000415243:p.Lys672Gln		A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061893	0.36373	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.91740	-2.88;-2.87;-2.9;-2.88	6.08	6.08	0.98989	.	0.100625	0.64402	D	0.000002	D	0.93032	0.7782	L	0.43152	1.355	0.39731	D	0.971613	D;D	0.56746	0.977;0.973	D;P	0.64144	0.922;0.496	D	0.90500	0.4473	10	0.09843	T	0.71	-21.8245	16.6438	0.85155	1.0:0.0:0.0:0.0	.	626;672	P12757-3;P12757	.;SKIL_HUMAN	Q	672;652;626;672	ENSP00000259119:K672Q;ENSP00000406520:K652Q;ENSP00000400193:K626Q;ENSP00000415243:K672Q	ENSP00000259119:K672Q	K	+	1	0	SKIL	171592858	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	5.067000	0.64357	2.333000	0.79357	0.533000	0.62120	AAG		0.388	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		C	170110164	A	C	170110164	3	2	244	1	0	0	0	0	1	0	0	0	14364	15	1	5	2036	5	SKIL	3	170110164	Missense_Mutation	SNP	A	TCGA-B2-4098-01A-02D-1386-10	41759332	170110164	27912266	12	14794											
SMARCAD1	56916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	95199614	95199614	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr4:95199614A>G	ENST00000354268.4	+	17	2197	c.2124A>G	c.(2122-2124)atA>atG	p.I708M	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.I708M|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.I278M			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	708					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.I708M(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGGAGAGAATAGCACATGCAA	0.264																																																1	Substitution - Missense(1)	kidney(1)											44	52	49					4																	95199614		2188	4283	6471	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2124A>G	4.37:g.95199614A>G	ENSP00000346217:p.Ile708Met		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221272	0.58560	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.55	2.92	0.33932	SNF2-related (1);	0.000000	0.53938	D	0.000041	D	0.95978	0.8690	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.95440	0.8524	10	0.72032	D	0.01	-26.2492	10.4475	0.44503	0.5609:0.0:0.0:0.4391	.	708;708	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	M	708;708;708;278	ENSP00000351947:I708M;ENSP00000415576:I708M;ENSP00000346217:I708M;ENSP00000423286:I278M	ENSP00000346217:I708M	I	+	3	3	SMARCAD1	95418637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.836000	0.27545	0.914000	0.36822	0.528000	0.53228	ATA		0.264	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		G	95199614	A	G	95199614	3	3	244	1	0	0	0	0	1	0	0	0	14778	410	15	3	2186	3	SMARCAD1	4	95199614	Missense_Mutation	SNP	A	TCGA-B2-4098-01A-02D-1386-10		95199614	95954662	13	14795											
GRIA2	2891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	158142838	158142838	+	Silent	SNP	C	C	T	rs371935251		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr4:158142838C>T	ENST00000264426.9	+	2	387	c.108C>T	c.(106-108)ggC>ggT	p.G36G	GRIA2_ENST00000393815.2_5'UTR|GRIA2_ENST00000507898.1_5'UTR|GRIA2_ENST00000296526.7_Silent_p.G36G|GRIA2_ENST00000449365.1_5'UTR|GRIA2_ENST00000504801.1_Intron	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	36					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G36G(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTCCTAGGGGCGCCGATCAAG	0.537																																																2	Substitution - coding silent(2)	kidney(2)											95	99	98					4																	158142838		2203	4300	6503	SO:0001819	synonymous_variant	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.108C>T	4.37:g.158142838C>T			A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	CCDS43274.1																																																																																				0.537	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			T	158142838	C	T	158142838	2	4	244	1	0	0	0	0	0	0	0	1	6770	755	27	1		1	GRIA2	4	158142838	Silent	SNP	C	TCGA-B2-4098-01A-02D-1386-10	62943224	158142838	33011438	14	14796											
AP3S1	1176	broad.mit.edu	37	5	115177762	115177762	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr5:115177762A>C	ENST00000316788.7	+	1	585	c.28A>C	c.(28-30)Aac>Cac	p.N10H	ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000509910.1_5'Flank|ATG12_ENST00000274459.4_5'Flank|ATG12_ENST00000500945.2_5'Flank	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	10					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.N10H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		AATCTTCAACAACCACGGGAA	0.692																																																1	Substitution - Missense(1)	kidney(1)											14	15	15					5																	115177762		2202	4299	6501	SO:0001583	missense	1176			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.28A>C	5.37:g.115177762A>C	ENSP00000325369:p.Asn10His		O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	ENST00000316788.7	37	CCDS4123.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158534	0.78114	.	.	ENSG00000177879	ENST00000316788	T	0.48201	0.82	5.25	5.25	0.73442	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.85299	2.745	0.45183	D	0.998197	P;P	0.41102	0.738;0.738	P;P	0.48141	0.568;0.568	T	0.69529	-0.5121	10	0.66056	D	0.02	.	14.4282	0.67230	1.0:0.0:0.0:0.0	.	10;10	B2R4I8;Q92572	.;AP3S1_HUMAN	H	10	ENSP00000325369:N10H	ENSP00000325369:N10H	N	+	1	0	AP3S1	115205661	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.650000	0.74368	2.115000	0.64714	0.533000	0.62120	AAC		0.692	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2			C	115177762	A	C	115177762	3	2	244	1	0	0	0	0	1	0	0	0	749	130	5	5	30	5	AP3S1	5	115177762	Missense_Mutation	SNP	A	TCGA-B2-4098-01A-02D-1386-10		115177762	65737498	15	14797											
PDGFRB	5159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149499609	149499609	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr5:149499609G>A	ENST00000261799.4	-	19	3133	c.2664C>T	c.(2662-2664)tcC>tcT	p.S888S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	888	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.S888S(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGATCCCGAAGGACCACACGT	0.567			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	1	Substitution - coding silent(1)	kidney(1)											130	106	114					5																	149499609		2203	4300	6503	SO:0001819	synonymous_variant	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2664C>T	5.37:g.149499609G>A			B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																				0.567	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		A	149499609	G	A	149499609	2	1	244	1	0	0	0	0	0	0	0	1	11664	987	35	2		2	PDGFRB	5	149499609	Silent	SNP	G	TCGA-B2-4098-01A-02D-1386-10	34321847	149499609	31415651	16	14798											
KIF4B	285643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154394675	154394675	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr5:154394675G>T	ENST00000435029.4	+	1	1416	c.1256G>T	c.(1255-1257)aGg>aTg	p.R419M		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	419					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R419M(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGTTGGAGAGGATCATTTTG	0.478																																																2	Substitution - Missense(2)	kidney(2)											134	136	135					5																	154394675		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1256G>T	5.37:g.154394675G>T	ENSP00000387875:p.Arg419Met			Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	12.45	1.940249	0.34283	.	.	ENSG00000226650	ENST00000435029	T	0.57752	0.38	1.61	0.706	0.18133	.	.	.	.	.	T	0.62048	0.2396	M	0.76838	2.35	0.43536	D	0.995824	D	0.67145	0.996	P	0.60886	0.88	T	0.60005	-0.7347	9	0.56958	D	0.05	.	3.8023	0.08763	0.4288:0.0:0.5712:0.0	.	419	Q2VIQ3	KIF4B_HUMAN	M	419	ENSP00000387875:R419M	ENSP00000387875:R419M	R	+	2	0	KIF4B	154374868	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.720000	0.38022	0.244000	0.21351	0.563000	0.77884	AGG		0.478	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			T	154394675	G	T	154394675	3	4	244	1	0	0	0	0	1	0	0	0	8306	1000	35	4	1258	4	KIF4B	5	154394675	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-02D-1386-10	4895066	154394675	26520585	17	14799											
GCNT2	2651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10529526	10529526	+	Silent	SNP	C	C	T	rs151060330		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr6:10529526C>T	ENST00000379597.3	+	1	938	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Silent_p.L128L			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	128					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.L128L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGTGTGCACCTGGATCAGAA	0.478																																																1	Substitution - coding silent(1)	kidney(1)											88	82	84					6																	10529526		2203	4300	6503	SO:0001819	synonymous_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.382C>T	6.37:g.10529526C>T				Silent	SNP	ENST00000379597.3	37	CCDS34338.1																																																																																				0.478	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		T	10529526	C	T	10529526	2	4	244	1	0	0	0	0	0	0	0	1	6303	680	24	2		2	GCNT2	6	10529526	Silent	SNP	C	TCGA-B2-4098-01A-02D-1386-10		10529526	160585541	18	14800											
XPO5	57510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43491607	43491607	+	Silent	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr6:43491607C>T	ENST00000265351.7	-	32	3824	c.3614G>A	c.(3613-3615)tGa>tAa	p.*1205*	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	0					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.*1205*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AAGCTTGATTCAGGGTTCAAA	0.493																																																1	Substitution - coding silent(1)	kidney(1)											113	116	115					6																	43491607		1948	4133	6081	SO:0001819	synonymous_variant	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3614G>A	6.37:g.43491607C>T			Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	CCDS47430.1																																																																																				0.493	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		T	43491607	C	T	43491607	2	4	244	1	0	0	0	0	0	0	0	1	17452	837	29	2		2	XPO5	6	43491607	Silent	SNP	C	TCGA-B2-4098-01A-02D-1386-10	32962081	43491607	127623460	19	14801											
ZNF804B	219578	hgsc.bcm.edu;ucsc.edu	37	7	88962701	88962702	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr7:88962701_88962702insA	ENST00000333190.4	+	4	1014_1015	c.405_406insA	c.(406-408)aaafs	p.K136fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	136							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GACCAGCATACAAAGCCCCCAG	0.366										HNSCC(36;0.09)																																						0																																										SO:0001589	frameshift_variant	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.408dupA	7.37:g.88962704_88962704dupA	ENSP00000329638:p.Lys136fs		B2RTV2|Q7Z714|Q96MN7	Frame_Shift_Ins	INS	ENST00000333190.4	37	CCDS5613.1																																																																																				0.366	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		A	88962702	-	A	88962701	7	5	244	1	0	1	1	0	0	0	0	0	18176	489	17	0	419	0	ZNF804B	7	88962701	Frame_Shift_Ins	INS	-	TCGA-B2-4098-01A-02D-1386-10		88962701	70175962	20	14802											
CNOT4	4850	hgsc.bcm.edu;ucsc.edu	37	7	135098321	135098322	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr7:135098321_135098322insTT	ENST00000315544.5	-	6	881_882	c.602_603insAA	c.(601-603)aagfs	p.K201fs	CNOT4_ENST00000451834.1_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000414802.1_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000541284.1_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000423368.2_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000428680.2_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000356162.4_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000361528.4_Frame_Shift_Ins_p.K201fs	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	201				K -> R (in Ref. 4; BAH13270). {ECO:0000305}.	gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ACTGCATATTCTTTAAGAAGTA	0.431																																					Ovarian(51;766 1130 5502 35047 50875)											0																																										SO:0001589	frameshift_variant	4850			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.601_602dupAA	7.37:g.135098322_135098323dupTT	ENSP00000326731:p.Lys201fs		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Frame_Shift_Ins	INS	ENST00000315544.5	37	CCDS55166.1																																																																																				0.431	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		TT	135098322	-	TT	135098321	7	5	244	1	0	1	1	0	0	0	0	0	3623	912	32	0	1445	0	CNOT4	7	135098321	Frame_Shift_Ins	INS	-	TCGA-B2-4098-01A-02D-1386-10	46135620	135098321	24040342	21	14803											
SYBU	55638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110598354	110598354	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr8:110598354G>A	ENST00000422135.1	-	5	980	c.465C>T	c.(463-465)ggC>ggT	p.G155G	SYBU_ENST00000424158.2_Silent_p.G160G|SYBU_ENST00000533065.1_Silent_p.G36G|SYBU_ENST00000533171.1_Silent_p.G155G|SYBU_ENST00000446070.2_Silent_p.G154G|SYBU_ENST00000408908.2_Silent_p.G155G|SYBU_ENST00000532779.1_Silent_p.G87G|SYBU_ENST00000528647.1_Silent_p.G154G|SYBU_ENST00000440310.1_Silent_p.G155G|SYBU_ENST00000528331.1_Silent_p.G36G|SYBU_ENST00000533895.1_Silent_p.G154G|SYBU_ENST00000529690.1_Silent_p.G25G|SYBU_ENST00000433638.1_Silent_p.G155G|SYBU_ENST00000399066.3_Silent_p.G152G|SYBU_ENST00000276646.9_Silent_p.G155G|SYBU_ENST00000408889.3_Silent_p.G36G|SYBU_ENST00000419099.1_Silent_p.G154G	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	155	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G152G(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CGGAAATGCTGCCTGTGCTGC	0.507																																																1	Substitution - coding silent(1)	kidney(1)											64	63	63					8																	110598354		1980	4170	6150	SO:0001819	synonymous_variant	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.465C>T	8.37:g.110598354G>A			A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	CCDS47912.1																																																																																				0.507	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		A	110598354	G	A	110598354	2	1	244	1	0	0	0	0	0	0	0	1	15432	1306	46	2		2	SYBU	8	110598354	Silent	SNP	G	TCGA-B2-4098-01A-02D-1386-10		110598354	35765668	22	14804											
OC90	729330	hgsc.bcm.edu	37	8	133036893	133036894	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr8:133036893_133036894insG	ENST00000443356.2	-	15	1402_1403	c.1316_1317insC	c.(1315-1317)gcafs	p.A439fs	OC90_ENST00000603859.1_Frame_Shift_Ins_p.A423fs|OC90_ENST00000254627.3_Frame_Shift_Ins_p.A423fs|OC90_ENST00000262283.5_Frame_Shift_Ins_p.A635fs			Q02509	OC90_HUMAN	otoconin 90	439	Phospholipase A2-like 3.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTTCACAGGCTGCTGGCTGCCC	0.649																																																0																																										SO:0001589	frameshift_variant	729330			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1317dupC	8.37:g.133036894_133036894dupG	ENSP00000390050:p.Ala439fs		B4DNG8	Frame_Shift_Ins	INS	ENST00000443356.2	37																																																																																					0.649	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		G	133036894	-	G	133036893	7	5	244	1	0	1	1	0	0	0	0	0	10816	1567	55	0	168	0	OC90	8	133036893	Frame_Shift_Ins	INS	-	TCGA-B2-4098-01A-02D-1386-10	22438539	133036893	13327129	23	14805											
NPR2	4882	broad.mit.edu	37	9	35792438	35792438	+	Silent	SNP	A	A	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr9:35792438A>G	ENST00000342694.2	+	1	288	c.33A>G	c.(31-33)gcA>gcG	p.A11A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	11					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.A11A(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGTTGGTGGCAGCCCTGGCAG	0.682																																																2	Substitution - coding silent(2)	kidney(2)											20	23	22					9																	35792438		2200	4299	6499	SO:0001819	synonymous_variant	4882			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.33A>G	9.37:g.35792438A>G			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	CCDS6590.1																																																																																				0.682	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			G	35792438	A	G	35792438	2	3	244	1	0	0	0	0	0	0	0	1	10597	175	7	3		3	NPR2	9	35792438	Silent	SNP	A	TCGA-B2-4098-01A-02D-1386-10		35792438	105420993	24	14806											
CAMSAP1	157922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	138713195	138713195	+	Silent	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr9:138713195C>T	ENST00000389532.4	-	11	3376	c.3312G>A	c.(3310-3312)ccG>ccA	p.P1104P	CAMSAP1_ENST00000409386.3_Silent_p.P1115P|CAMSAP1_ENST00000312405.6_Silent_p.P826P|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1104					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.P1104P(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCAGCTCCGCCGGCCTTCCGG	0.652																																																1	Substitution - coding silent(1)	kidney(1)											33	41	39					9																	138713195		2203	4299	6502	SO:0001819	synonymous_variant	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3312G>A	9.37:g.138713195C>T			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	CCDS35176.2																																																																																				0.652	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		T	138713195	C	T	138713195	2	4	244	1	0	0	0	0	0	0	0	1	2613	639	23	1		1	CAMSAP1	9	138713195	Silent	SNP	C	TCGA-B2-4098-01A-02D-1386-10	102920757	138713195	2500236	25	14807											
CSTF3	1479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	33108666	33108666	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr11:33108666C>T	ENST00000323959.4	-	18	1802	c.1663G>A	c.(1663-1665)Gca>Aca	p.A555T	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	555					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A555T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATTATAGCTGCTAGCTTAGCA	0.423																																																1	Substitution - Missense(1)	kidney(1)											208	208	208					11																	33108666		2202	4298	6500	SO:0001583	missense	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1663G>A	11.37:g.33108666C>T	ENSP00000315791:p.Ala555Thr		A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602872	0.66445	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	.	.	.	5.82	5.82	0.92795	Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.43152	1.355	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51710	-0.8671	9	0.13853	T	0.58	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	555	Q12996	CSTF3_HUMAN	T	555;488	.	ENSP00000315791:A555T	A	-	1	0	CSTF3	33065242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.983000	0.63832	2.751000	0.94390	0.650000	0.86243	GCA		0.423	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		T	33108666	C	T	33108666	3	4	244	1	0	0	0	0	1	0	0	0	3988	797	28	2	506	2	CSTF3	11	33108666	Missense_Mutation	SNP	C	TCGA-B2-4098-01A-02D-1386-10		33108666	101897850	26	14808											
DGKZ	8525	broad.mit.edu;ucsc.edu	37	11	46401080	46401080	+	Missense_Mutation	SNP	G	G	A	rs540339132		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr11:46401080G>A	ENST00000454345.1	+	31	3324	c.3199G>A	c.(3199-3201)Gtg>Atg	p.V1067M	DGKZ_ENST00000532868.2_Missense_Mutation_p.V883M|DGKZ_ENST00000527911.1_Missense_Mutation_p.V884M|MDK_ENST00000395569.4_5'Flank|DGKZ_ENST00000343674.6_Missense_Mutation_p.V895M|DGKZ_ENST00000395574.3_Missense_Mutation_p.V845M|DGKZ_ENST00000456247.2_Missense_Mutation_p.V878M|DGKZ_ENST00000528615.1_Missense_Mutation_p.V657M|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000318201.8_Missense_Mutation_p.V856M|DGKZ_ENST00000421244.2_Missense_Mutation_p.V879M|DGKZ_ENST00000543978.1_Missense_Mutation_p.V231M|MDK_ENST00000407067.1_5'Flank|MDK_ENST00000395566.4_5'Flank|MDK_ENST00000395565.1_5'Flank|MDK_ENST00000405308.2_5'Flank	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	1067					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.V879M(1)|p.V895M(1)|p.V1067M(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCACTACATCGTGGAGGCCGG	0.662																																																3	Substitution - Missense(3)	kidney(3)											19	19	19					11																	46401080		2192	4292	6484	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.3199G>A	11.37:g.46401080G>A	ENSP00000412178:p.Val1067Met		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021148	0.93462	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	D;D;D;D;D;T;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-0.25;-1.72;-1.72;-1.72;-1.72	4.15	4.15	0.48705	Ankyrin repeat-containing domain (3);	0.240956	0.33515	N	0.004823	D	0.90518	0.7029	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D;D	0.83275	0.996;0.984;0.984;0.996;0.973;0.958;0.975;0.984	D	0.91779	0.5434	10	0.72032	D	0.01	.	15.1438	0.72633	0.0:0.0:1.0:0.0	.	856;844;884;1067;878;879;845;895	B7Z2M9;B7Z6M3;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;DGKZ_HUMAN;.;.;.;.	M	895;657;845;844;231;884;878;879;856;1067	ENSP00000343065:V895M;ENSP00000434719:V657M;ENSP00000378941:V845M;ENSP00000436273:V844M;ENSP00000438417:V231M;ENSP00000436291:V884M;ENSP00000395684:V878M;ENSP00000391021:V879M;ENSP00000320340:V856M;ENSP00000412178:V1067M	ENSP00000320340:V856M	V	+	1	0	DGKZ	46357656	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.706000	0.84615	2.318000	0.78349	0.561000	0.74099	GTG		0.662	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		A	46401080	G	A	46401080	3	1	244	1	0	0	0	0	1	0	0	0	4476	1145	40	1	3764	1	DGKZ	11	46401080	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-02D-1386-10	13292414	46401080	88605436	27	14809											
TSGA10IP	254187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65715544	65715544	+	RNA	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr11:65715544C>T	ENST00000532620.1	+	0	1307				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.A329V(1)		endometrium(2)|kidney(3)|lung(9)	14						AAGGCCTATGCCTCGGGATAC	0.582																																																1	Substitution - Missense(1)	kidney(1)											33	33	33					11																	65715544		1930	4124	6054			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715544C>T			Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.582	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		T	65715544	C	T	65715544	1	4	244	0	1	0	0	0	0	0	0	0	16623	739	26	2		2	TSGA10IP	11	65715544	RNA	SNP	C	TCGA-B2-4098-01A-02D-1386-10	19314464	65715544	69290972	28	14810											
NCKAP5L	57701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50190216	50190216	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr12:50190216A>C	ENST00000335999.6	-	8	1628	c.1427T>G	c.(1426-1428)cTc>cGc	p.L476R		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	472	Pro-rich.							p.L67R(1)|p.L476R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTGGGGACTGAGCTGCGGGCC	0.652																																																2	Substitution - Missense(2)	kidney(2)											12	15	14					12																	50190216		1937	4133	6070	SO:0001583	missense	57701			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1427T>G	12.37:g.50190216A>C	ENSP00000337998:p.Leu476Arg		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001640	0.54254	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.72394	-0.65	4.42	3.27	0.37495	.	0.000000	0.37669	N	0.001989	T	0.72645	0.3486	L	0.32530	0.975	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.71849	-0.4468	10	0.46703	T	0.11	-18.0179	8.6756	0.34176	0.9059:0.0:0.0941:0.0	.	472;472	E2QRB5;Q9HCH0-2	.;.	R	476;472	ENSP00000337998:L476R	ENSP00000337998:L476R	L	-	2	0	NCKAP5L	48476483	0.997000	0.39634	1.000000	0.80357	0.876000	0.50452	0.738000	0.26158	1.789000	0.52484	0.459000	0.35465	CTC		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		C	50190216	A	C	50190216	3	2	244	1	0	0	0	0	1	0	0	0	10226	304	11	5	2601	5	NCKAP5L	12	50190216	Missense_Mutation	SNP	A	TCGA-B2-4098-01A-02D-1386-10		50190216	83661679	29	14811											
KIAA0748	9840	broad.mit.edu	37	12	55357546	55357546	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr12:55357546T>G	ENST00000449076.1	-	8	767	c.635A>C	c.(634-636)gAc>gCc	p.D212A	TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Missense_Mutation_p.D74A|TESPA1_ENST00000531122.1_Missense_Mutation_p.D74A|TESPA1_ENST00000524622.1_Missense_Mutation_p.D74A|TESPA1_ENST00000316577.8_Missense_Mutation_p.D212A	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	212					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.D212A(1)|p.D74A(1)									GAGGCAGGGGTCTTCCATTTC	0.547																																																2	Substitution - Missense(2)	kidney(2)											44	49	48					12																	55357546		1922	4122	6044	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.635A>C	12.37:g.55357546T>G	ENSP00000400892:p.Asp212Ala		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453602	0.84209	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000532757;ENST00000531122;ENST00000526532	T;T;T;T;T	0.58210	0.35;0.35;0.38;0.38;0.35	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	L	0.43152	1.355	0.52099	D	0.999949	D	0.71674	0.998	P	0.60682	0.878	T	0.64609	-0.6367	10	0.72032	D	0.01	-13.4853	13.9255	0.63959	0.0:0.0:0.0:1.0	.	212	A2RU30	K0748_HUMAN	A	74;74;212;212;74;74;74	ENSP00000435622:D74A;ENSP00000432030:D74A;ENSP00000400892:D212A;ENSP00000312679:D212A;ENSP00000433098:D74A	ENSP00000312679:D212A	D	-	2	0	KIAA0748	53643813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.186000	0.77722	2.330000	0.79161	0.533000	0.62120	GAC		0.547	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		G	55357546	T	G	55357546	3	3	244	1	0	0	0	0	1	0	0	0	8192	1667	58	5	942	5	KIAA0748	12	55357546	Missense_Mutation	SNP	T	TCGA-B2-4098-01A-02D-1386-10	5167330	55357546	78494349	30	14812											
CIT	11113	hgsc.bcm.edu;ucsc.edu	37	12	120241113	120241113	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr12:120241113delA	ENST00000261833.7	-	10	1244	c.1192delT	c.(1192-1194)tcafs	p.S400fs	CIT_ENST00000392521.2_Frame_Shift_Del_p.S400fs	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	400	AGC-kinase C-terminal.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGAGAGGATGAAACCCACGAA	0.517																																																0													92	92	92					12																	120241113		2203	4300	6503	SO:0001589	frameshift_variant	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1192delT	12.37:g.120241113delA	ENSP00000261833:p.Ser400fs		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Frame_Shift_Del	DEL	ENST00000261833.7	37	CCDS9192.1																																																																																				0.517	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		-	120241113	A	-	120241113	7	5	244	1	0	1	0	1	0	0	0	0	3440	246	9	0	5043	0	CIT	12	120241113	Frame_Shift_Del	DEL	A	TCGA-B2-4098-01A-02D-1386-10	64883567	120241113	13610782	31	14813											
NBEA	26960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	35770236	35770236	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr13:35770236delT	ENST00000400445.3	+	31	5697	c.5163delT	c.(5161-5163)aatfs	p.N1721fs	NBEA_ENST00000379939.2_Frame_Shift_Del_p.N1718fs|NBEA_ENST00000540320.1_Frame_Shift_Del_p.N1721fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.N1721fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1721					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAACTGAAAATCCTAGTGAAA	0.423																																																0													87	85	86					13																	35770236		1887	4139	6026	SO:0001589	frameshift_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5163delT	13.37:g.35770236delT	ENSP00000383295:p.Asn1721fs		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Del	DEL	ENST00000400445.3	37	CCDS45026.1																																																																																				0.423	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		-	35770236	T	-	35770236	7	5	244	1	0	1	0	1	0	0	0	0	10189	1432	50	0	5285	0	NBEA	13	35770236	Frame_Shift_Del	DEL	T	TCGA-B2-4098-01A-02D-1386-10		35770236	79399642	32	14814											
DUOX1	53905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45428753	45428753	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:45428753A>G	ENST00000321429.4	+	10	1359	c.952A>G	c.(952-954)Atc>Gtc	p.I318V	DUOX1_ENST00000389037.3_Missense_Mutation_p.I318V|DUOX1_ENST00000561166.1_5'Flank	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	318	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.I318V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GGACCCCAGCATCTCCTCAGA	0.582																																																1	Substitution - Missense(1)	kidney(1)											86	84	85					15																	45428753		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.952A>G	15.37:g.45428753A>G	ENSP00000317997:p.Ile318Val		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001313	0.35320	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.74737	-0.87;-0.87	4.75	2.44	0.29823	.	0.096756	0.64402	N	0.000001	T	0.62853	0.2462	L	0.45228	1.405	0.80722	D	1	B	0.14438	0.01	B	0.23574	0.047	T	0.51810	-0.8658	10	0.27785	T	0.31	-27.7017	7.4461	0.27211	0.8182:0.0:0.1818:0.0	.	318	Q9NRD9	DUOX1_HUMAN	V	318	ENSP00000317997:I318V;ENSP00000373689:I318V	ENSP00000317997:I318V	I	+	1	0	DUOX1	43216045	0.997000	0.39634	1.000000	0.80357	0.973000	0.67179	2.216000	0.42871	0.422000	0.26005	0.459000	0.35465	ATC		0.582	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		G	45428753	A	G	45428753	3	3	244	1	0	0	0	0	1	0	0	0	4802	217	8	3	982	3	DUOX1	15	45428753	Missense_Mutation	SNP	A	TCGA-B2-4098-01A-02D-1386-10		45428753	57102639	33	14815											
FGF7	2252	hgsc.bcm.edu	37	15	49776509	49776509	+	Silent	SNP	A	A	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:49776509A>G	ENST00000267843.4	+	4	1004	c.393A>G	c.(391-393)aaA>aaG	p.K131K	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	131					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		TTTAACAGAAAGAATGCAATG	0.333																																																0													34	34	34					15																	49776509		2034	3868	5902	SO:0001819	synonymous_variant	2252			M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.393A>G	15.37:g.49776509A>G			H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	CCDS10131.1																																																																																				0.333	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		G	49776509	A	G	49776509	2	3	244	1	0	0	0	0	0	0	0	1	5859	69	3	3		3	FGF7	15	49776509	Silent	SNP	A	TCGA-B2-4098-01A-02D-1386-10	4347756	49776509	52754883	34	14816	116	2									
FGF7	2252	hgsc.bcm.edu	37	15	49776514	49776514	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:49776514G>A	ENST00000267843.4	+	4	1009	c.398G>A	c.(397-399)tGc>tAc	p.C133Y	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	133					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		CAGAAAGAATGCAATGAAGAT	0.338																																																0													35	35	35					15																	49776514		2033	3868	5901	SO:0001583	missense	2252			M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.398G>A	15.37:g.49776514G>A	ENSP00000267843:p.Cys133Tyr		H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	.	1.971	-0.436389	0.04636	.	.	ENSG00000140285	ENST00000267843	T	0.64085	-0.08	5.92	5.92	0.95590	.	0.048209	0.85682	D	0.000000	T	0.49864	0.1582	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44143	-0.9347	9	0.12430	T	0.62	.	19.9276	0.97108	0.0:0.0:1.0:0.0	.	133	P21781	FGF7_HUMAN	Y	133	ENSP00000267843:C133Y	ENSP00000267843:C133Y	C	+	2	0	FGF7	47563806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.038000	0.64177	2.801000	0.96364	0.650000	0.86243	TGC		0.338	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		A	49776514	G	A	49776514	3	1	244	1	0	0	0	0	1	0	0	0	5859	1319	46	2	408	2	FGF7	15	49776514	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-02D-1386-10	5	49776514	52754878	35	14817	116	2									
HEXA	3073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72642868	72642868	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:72642868A>C	ENST00000268097.5	-	7	1299	c.796T>G	c.(796-798)Tgg>Ggg	p.W266G	HEXA_ENST00000567159.1_Missense_Mutation_p.W266G|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Missense_Mutation_p.W74G|HEXA_ENST00000429918.2_Missense_Mutation_p.W93G|HEXA_ENST00000566304.1_Missense_Mutation_p.W277G	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	266					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.W266G(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCTGGTCCCCAGGACAAAGTG	0.537																																																1	Substitution - Missense(1)	kidney(1)											146	131	136					15																	72642868		2199	4297	6496	SO:0001583	missense	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.796T>G	15.37:g.72642868A>C	ENSP00000268097:p.Trp266Gly		B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560288	0.86335	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.96830	-4.14;-4.14;-4.14	5.87	5.87	0.94306	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	H	0.94264	3.515	0.80722	D	1	P;D;P;D;D	0.61697	0.857;0.99;0.857;0.968;0.984	P;D;P;P;D	0.71656	0.77;0.974;0.77;0.889;0.949	D	0.99204	1.0874	10	0.33940	T	0.23	-12.2101	16.2847	0.82712	1.0:0.0:0.0:0.0	.	93;277;93;146;266	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	G	266;74;93	ENSP00000268097:W266G;ENSP00000398026:W74G;ENSP00000416187:W93G	ENSP00000268097:W266G	W	-	1	0	HEXA	70429922	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.226000	0.95229	2.242000	0.73789	0.528000	0.53228	TGG		0.537	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		C	72642868	A	C	72642868	3	2	244	1	0	0	0	0	1	0	0	0	7075	188	7	5	825	5	HEXA	15	72642868	Missense_Mutation	SNP	A	TCGA-B2-4098-01A-02D-1386-10	22866354	72642868	29888524	36	14818											
WDR73	84942	hgsc.bcm.edu;ucsc.edu	37	15	85186743	85186743	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:85186743delA	ENST00000434634.2	-	8	1155	c.1095delT	c.(1093-1095)tctfs	p.S365fs	WDR73_ENST00000398528.3_5'UTR|SCAND2P_ENST00000348993.5_RNA	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	365										cervix(1)|large_intestine(1)|lung(1)	3						ACACATGCAGAGAGGCATCAT	0.547																																																0													92	101	98					15																	85186743		2170	4286	6456	SO:0001589	frameshift_variant	84942			AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"WD repeat domain containing"	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.1095delT	15.37:g.85186743delA	ENSP00000387982:p.Ser365fs		Q96JZ1|Q9P0B7	Frame_Shift_Del	DEL	ENST00000434634.2	37	CCDS45339.1																																																																																				0.547	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		-	85186743	A	-	85186743	7	5	244	1	0	1	0	1	0	0	0	0	17328	291	11	0	45	0	WDR73	15	85186743	Frame_Shift_Del	DEL	A	TCGA-B2-4098-01A-02D-1386-10	12543875	85186743	17344649	37	14819											
LINS1	55180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	101109927	101109927	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:101109927G>T	ENST00000314742.8	-	7	2012	c.1790C>A	c.(1789-1791)cCc>cAc	p.P597H	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	597								p.P597H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGGTTCAGAGGGAGCATCGGA	0.537																																																1	Substitution - Missense(1)	kidney(1)											69	65	66					15																	101109927		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1790C>A	15.37:g.101109927G>T	ENSP00000318423:p.Pro597His		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781562	0.49891	.	.	ENSG00000140471	ENST00000314742	T	0.09445	2.98	5.24	4.32	0.51571	.	0.644810	0.14911	N	0.291239	T	0.10594	0.0259	N	0.14661	0.345	0.38858	D	0.956412	P	0.49447	0.924	P	0.47941	0.562	T	0.19712	-1.0297	10	0.62326	D	0.03	-4.0621	12.318	0.54969	0.0788:0.0:0.9212:0.0	.	597	Q8NG48	LINES_HUMAN	H	597	ENSP00000318423:P597H	ENSP00000318423:P597H	P	-	2	0	LINS	98927450	0.536000	0.26378	0.003000	0.11579	0.175000	0.22909	1.959000	0.40412	1.199000	0.43173	0.591000	0.81541	CCC		0.537	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		T	101109927	G	T	101109927	3	4	244	1	0	0	0	0	1	0	0	0	8820	1232	43	4	487	4	LINS1	15	101109927	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-02D-1386-10	15923184	101109927	1421465	38	14820											
ITGAL	3683	broad.mit.edu;hgsc.bcm.edu	37	16	30507854	30507854	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr16:30507854C>A	ENST00000356798.6	+	15	1979	c.1799C>A	c.(1798-1800)gCt>gAt	p.A600D	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.A517D|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	600					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.A600D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCAGATGTGGCTGTGGGGGCT	0.527																																					NSCLC(110;1462 1641 3311 33990 49495)											1	Substitution - Missense(1)	kidney(1)											95	81	86					16																	30507854		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1799C>A	16.37:g.30507854C>A	ENSP00000349252:p.Ala600Asp		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330216	0.81690	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.55930	0.49;0.49	5.94	2.62	0.31277	.	0.448545	0.21331	N	0.076294	T	0.70395	0.3219	M	0.92026	3.265	0.80722	D	1	D;D	0.63880	0.993;0.987	P;P	0.59056	0.851;0.851	T	0.72906	-0.4150	10	0.87932	D	0	.	7.5666	0.27883	0.0:0.664:0.0:0.336	.	517;600	Q96HB1;P20701	.;ITAL_HUMAN	D	600;517	ENSP00000349252:A600D;ENSP00000350886:A517D	ENSP00000349252:A600D	A	+	2	0	ITGAL	30415355	0.051000	0.20477	1.000000	0.80357	0.948000	0.59901	0.799000	0.27028	0.832000	0.34804	0.563000	0.77884	GCT		0.527	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			A	30507854	C	A	30507854	3	1	244	1	0	0	0	0	1	0	0	0	7888	797	28	4	1857	4	ITGAL	16	30507854	Missense_Mutation	SNP	C	TCGA-B2-4098-01A-02D-1386-10		30507854	59846899	39	14821											
ALOXE3	59344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8020117	8020117	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:8020117G>A	ENST00000448843.2	-	3	669	c.329C>T	c.(328-330)aCc>aTc	p.T110I	ALOXE3_ENST00000318227.3_Missense_Mutation_p.T242I|ALOXE3_ENST00000380149.1_Missense_Mutation_p.T266I	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	110	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.T242I(1)|p.T110I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGCTCCACGGTGCAGTAGCC	0.562																																																2	Substitution - Missense(2)	kidney(2)											136	101	113					17																	8020117		2203	4300	6503	SO:0001583	missense	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.329C>T	17.37:g.8020117G>A	ENSP00000400581:p.Thr110Ile		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054053	0.36277	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.23950	1.88;1.88;1.88	5.26	3.12	0.35913	Lipoxygenase, C-terminal (1);Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.474372	0.25906	N	0.027537	T	0.26846	0.0657	L	0.48174	1.505	0.28199	N	0.927436	B;P;P	0.46859	0.135;0.885;0.885	B;P;P	0.48089	0.055;0.566;0.566	T	0.05273	-1.0895	10	0.28530	T	0.3	-20.5934	9.6733	0.40026	0.0799:0.1423:0.7778:0.0	.	242;110;110	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	I	266;242;110	ENSP00000369494:T266I;ENSP00000314879:T242I;ENSP00000400581:T110I	ENSP00000314879:T242I	T	-	2	0	ALOXE3	7960842	0.999000	0.42202	0.859000	0.33776	0.090000	0.18270	2.951000	0.49089	1.342000	0.45619	0.555000	0.69702	ACC		0.562	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			A	8020117	G	A	8020117	3	1	244	1	0	0	0	0	1	0	0	0	542	1261	44	2	1862	2	ALOXE3	17	8020117	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-02D-1386-10		8020117	73175093	40	14822											
KRTAP4-4	84616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39316569	39316569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:39316569G>T	ENST00000390661.3	-	1	414	c.375C>A	c.(373-375)taC>taA	p.Y125*		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	125	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament (GO:0045095)		p.Y125*(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGGACACACAGTAGCTGGGGC	0.667																																																1	Substitution - Nonsense(1)	kidney(1)											41	49	46					17																	39316569		2202	4297	6499	SO:0001587	stop_gained	84616			AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"Keratin associated proteins"	16928	protein-coding gene	gene with protein product			"keratin associated protein 4-13"	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.375C>A	17.37:g.39316569G>T	ENSP00000375076:p.Tyr125*		Q9BYU7	Nonsense_Mutation	SNP	ENST00000390661.3	37	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	16.99	3.274262	0.59649	.	.	ENSG00000171396	ENST00000390661	.	.	.	5.48	1.65	0.23941	.	1.549040	0.04692	U	0.414286	.	.	.	.	.	.	0.48571	D	0.99967	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.0228	0.30419	0.3272:0.0:0.6728:0.0	.	.	.	.	X	125	.	ENSP00000375076:Y125X	Y	-	3	2	KRTAP4-4	36570095	1.000000	0.71417	0.003000	0.11579	0.028000	0.11728	2.893000	0.48633	0.067000	0.16545	0.650000	0.86243	TAC		0.667	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			T	39316569	G	T	39316569	4	4	244	1	0	0	0	0	0	1	0	0	8555	1024	36	4	129	4	KRTAP4-4	17	39316569	Nonsense_Mutation	SNP	G	TCGA-B2-4098-01A-02D-1386-10	31296452	39316569	41878641	41	14823											
KRT17	3872	hgsc.bcm.edu	37	17	39780391	39780392	+	Frame_Shift_Ins	INS	-	-	C	rs371097627		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:39780391_39780392insC	ENST00000311208.8	-	1	437_438	c.370_371insG	c.(370-372)gccfs	p.A124fs	KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	124	Linker 1.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGGCCCCGGGGCCTGCCTCTGG	0.639																																					Pancreas(92;1242 2086 39193 50508)											0																																										SO:0001589	frameshift_variant	3872			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.371dupG	17.37:g.39780393_39780393dupC	ENSP00000308452:p.Ala124fs		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Frame_Shift_Ins	INS	ENST00000311208.8	37	CCDS11402.1																																																																																				0.639	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		C	39780392	-	C	39780391	7	5	244	1	0	1	1	0	0	0	0	0	8456	1203	42	0	959	0	KRT17	17	39780391	Frame_Shift_Ins	INS	-	TCGA-B2-4098-01A-02D-1386-10	463822	39780391	41414819	42	14824											
MTMR4	9110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56589825	56589825	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:56589825C>T	ENST00000323456.5	-	4	260	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	MTMR4_ENST00000579925.1_Missense_Mutation_p.G46S	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	46					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.G46S(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGCCCGGCCCAGGAACTCT	0.522																																																1	Substitution - Missense(1)	kidney(1)											63	59	60					17																	56589825		2203	4300	6503	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.136G>A	17.37:g.56589825C>T	ENSP00000325285:p.Gly46Ser		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674212	0.67928	.	.	ENSG00000108389	ENST00000323456	T	0.46819	0.86	5.51	5.51	0.81932	.	0.105320	0.64402	D	0.000004	T	0.70911	0.3278	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74044	-0.3791	10	0.72032	D	0.01	.	17.9791	0.89136	0.0:1.0:0.0:0.0	.	46	Q9NYA4	MTMR4_HUMAN	S	46	ENSP00000325285:G46S	ENSP00000325285:G46S	G	-	1	0	MTMR4	53944824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.343000	0.79319	2.595000	0.87683	0.561000	0.74099	GGC		0.522	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		T	56589825	C	T	56589825	3	4	244	1	0	0	0	0	1	0	0	0	9948	623	22	2	3515	2	MTMR4	17	56589825	Missense_Mutation	SNP	C	TCGA-B2-4098-01A-02D-1386-10	16809434	56589825	24605385	43	14825											
TTYH2	94015	broad.mit.edu	37	17	72209750	72209750	+	Silent	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:72209750C>T	ENST00000269346.4	+	1	98	c.24C>T	c.(22-24)taC>taT	p.Y8Y	CTD-2514K5.2_ENST00000499670.2_RNA|TTYH2_ENST00000529107.1_5'Flank|CTD-2514K5.2_ENST00000531617.1_RNA|CTD-2514K5.2_ENST00000532794.1_RNA	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	8						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.Y8Y(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GCGTGGACTACATCGCTCCCT	0.721																																																1	Substitution - coding silent(1)	kidney(1)											37	33	34					17																	72209750		2199	4298	6497	SO:0001819	synonymous_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.24C>T	17.37:g.72209750C>T			B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	CCDS32717.1																																																																																				0.721	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			T	72209750	C	T	72209750	2	4	244	1	0	0	0	0	0	0	0	1	16745	489	17	2		2	TTYH2	17	72209750	Silent	SNP	C	TCGA-B2-4098-01A-02D-1386-10	15619925	72209750	8985460	44	14826											
DNAH17	8632	broad.mit.edu	37	17	76451801	76451801	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:76451801G>A	ENST00000585328.1	-	63	10204	c.10080C>T	c.(10078-10080)taC>taT	p.Y3360Y	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Silent_p.Y3351Y	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3351					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y3360Y(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTAGCCCACGTAGGACACGA	0.532																																																1	Substitution - coding silent(1)	kidney(1)											83	64	70					17																	76451801		2203	4299	6502	SO:0001819	synonymous_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10080C>T	17.37:g.76451801G>A			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																					0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		A	76451801	G	A	76451801	2	1	244	1	0	0	0	0	0	0	0	1	4603	1140	40	1		1	DNAH17	17	76451801	Silent	SNP	G	TCGA-B2-4098-01A-02D-1386-10	4242051	76451801	4743409	45	14827											
ARHGAP28	79822	broad.mit.edu;hgsc.bcm.edu	37	18	6873513	6873513	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr18:6873513T>G	ENST00000383472.4	+	8	1164	c.1060T>G	c.(1060-1062)Ttt>Gtt	p.F354V	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.F195V|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.F177V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.F354V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.F195V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.F302V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.F195V|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.F190V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	354					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ATTGACTGCCTTTTTTGATGC	0.388																																																0													142	144	143					18																	6873513		2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1060T>G	18.37:g.6873513T>G	ENSP00000372964:p.Phe354Val		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	T	23.2	4.391831	0.83011	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08546	3.27;3.22;3.17;3.16;3.17;3.08	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.54323	1.7	0.58432	D	0.99999	D;P;P;P	0.89917	1.0;0.609;0.537;0.537	D;B;B;B	0.87578	0.998;0.341;0.437;0.343	T	0.00385	-1.1773	10	0.51188	T	0.08	.	15.4627	0.75373	0.0:0.0:0.0:1.0	.	354;186;195;302	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	354;302;195;190;195;195;186;177	ENSP00000382963:F354V;ENSP00000262227:F302V;ENSP00000392660:F195V;ENSP00000437262:F190V;ENSP00000313506:F195V;ENSP00000406907:F195V	ENSP00000262227:F302V	F	+	1	0	ARHGAP28	6863513	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.789000	0.69029	2.113000	0.64589	0.528000	0.53228	TTT		0.388	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		G	6873513	T	G	6873513	3	3	244	1	0	0	0	0	1	0	0	0	877	1609	56	5	605	5	ARHGAP28	18	6873513	Missense_Mutation	SNP	T	TCGA-B2-4098-01A-02D-1386-10		6873513	71203735	46	14828											
PVRL2	5819	hgsc.bcm.edu	37	19	45391485	45391486	+	Frame_Shift_Ins	INS	-	-	C	rs146573265		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr19:45391485_45391486insC	ENST00000252483.5	+	9	1466_1467	c.1466_1467insC	c.(1465-1470)gacgttfs	p.V490fs	CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000405636.2_5'Flank|TOMM40_ENST00000252487.5_5'Flank	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	490					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GCTGTGGAAGACGTTTCCCTGG	0.599																																																0																																										SO:0001589	frameshift_variant	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1467dupC	19.37:g.45391486_45391486dupC	ENSP00000252483:p.Val490fs		A8K5L5|O75455|Q6IBI6|Q96J29	Frame_Shift_Ins	INS	ENST00000252483.5	37	CCDS42576.1																																																																																				0.599	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		C	45391486	-	C	45391485	7	5	244	1	0	1	1	0	0	0	0	0	12846	275	10	0	1902	0	PVRL2	19	45391485	Frame_Shift_Ins	INS	-	TCGA-B2-4098-01A-02D-1386-10		45391485	13737498	47	14829											
RTN2	6253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45996518	45996518	+	Silent	SNP	G	G	A	rs539287856	byFrequency	TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr19:45996518G>A	ENST00000245923.4	-	5	1168	c.933C>T	c.(931-933)acC>acT	p.T311T	RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000430715.2_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_Silent_p.T37T	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	311					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.T311T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GAGTAGGGGGGGTGGGGCCCC	0.552													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15092	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											56	66	63					19																	45996518		2203	4300	6503	SO:0001819	synonymous_variant	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.933C>T	19.37:g.45996518G>A			O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	CCDS12665.1																																																																																				0.552	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		A	45996518	G	A	45996518	2	1	244	1	0	0	0	0	0	0	0	1	13732	1219	43	2		2	RTN2	19	45996518	Silent	SNP	G	TCGA-B2-4098-01A-02D-1386-10	605033	45996518	13132465	48	14830											
GGT1	2678	broad.mit.edu	37	22	25007058	25007058	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr22:25007058A>T	ENST00000400382.1	+	5	765	c.10A>T	c.(10-12)Aag>Tag	p.K4*	GGT1_ENST00000406383.2_Nonsense_Mutation_p.K4*|GGT1_ENST00000400383.1_Nonsense_Mutation_p.K4*|GGT1_ENST00000400380.1_Nonsense_Mutation_p.K4*|GGT1_ENST00000248923.4_Nonsense_Mutation_p.K4*			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	4					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.K4*(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CATGAAGAAGAAGTTAGTGGT	0.602																																																1	Substitution - Nonsense(1)	kidney(1)											9	9	9					22																	25007058		1928	4075	6003	SO:0001587	stop_gained	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.10A>T	22.37:g.25007058A>T	ENSP00000383232:p.Lys4*		Q08247|Q14404|Q8TBS1|Q9UMK1	Nonsense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.195386	0.78902	.	.	ENSG00000100031	ENST00000248923;ENST00000456869;ENST00000411974;ENST00000412658;ENST00000445029;ENST00000419133;ENST00000400382;ENST00000438643;ENST00000452551;ENST00000400383;ENST00000412898;ENST00000400380;ENST00000455483;ENST00000430289;ENST00000447416;ENST00000432867;ENST00000451366;ENST00000406383;ENST00000428855	.	.	.	3.5	-1.98	0.07480	.	7.178310	0.01157	U	0.006547	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-7.3243	5.5896	0.17293	0.4929:0.4042:0.0:0.103	.	.	.	.	X	4	.	ENSP00000248923:K4X	K	+	1	0	GGT1	23337058	0.107000	0.21998	0.105000	0.21289	0.090000	0.18270	0.108000	0.15396	-0.036000	0.13669	-1.195000	0.01675	AAG		0.602	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		T	25007058	A	T	25007058	4	4	244	1	0	0	0	0	0	1	0	0	6363	247	9	5	12	5	GGT1	22	25007058	Nonsense_Mutation	SNP	A	TCGA-B2-4098-01A-02D-1386-10		25007058	26297508	49	14831											
C22orf42	150297	broad.mit.edu;hgsc.bcm.edu	37	22	32555121	32555121	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr22:32555121G>A	ENST00000382097.3	-	1	154	c.82C>T	c.(82-84)Cat>Tat	p.H28Y	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	28								p.H28Y(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TCACACTCATGGCAGGGTCCC	0.562																																																1	Substitution - Missense(1)	kidney(1)											91	81	84					22																	32555121		2203	4300	6503	SO:0001583	missense	150297			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.82C>T	22.37:g.32555121G>A	ENSP00000371529:p.His28Tyr		A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.542610	0.00142	.	.	ENSG00000205856	ENST00000382097	T	0.20881	2.04	0.131	-0.261	0.12963	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.33000	0.393	B	0.39119	0.291	T	0.25950	-1.0117	8	0.34782	T	0.22	.	.	.	.	.	28	Q6IC83	CV042_HUMAN	Y	28	ENSP00000371529:H28Y	ENSP00000371529:H28Y	H	-	1	0	C22orf42	30885121	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.066000	0.00302	-3.104000	0.00243	-3.144000	0.00059	CAT		0.562	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		A	32555121	G	A	32555121	3	1	244	1	0	0	0	0	1	0	0	0	2151	1348	47	2	709	2	C22orf42	22	32555121	Missense_Mutation	SNP	G	TCGA-B2-4098-01A-02D-1386-10	7548063	32555121	18749445	50	14832											
APOBEC3B	9582	broad.mit.edu	37	22	39387382	39387382	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr22:39387382C>T	ENST00000333467.3	+	6	814	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R257C|APOBEC3B_ENST00000407298.3_Intron	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	257	CMP/dCMP deaminase zinc-binding 2.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R257C(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGCGGAGCTGCGCTTCTTGGA	0.567																																																1	Substitution - Missense(1)	kidney(1)											23	26	25					22																	39387382		2163	4207	6370	SO:0001583	missense	9582			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.769C>T	22.37:g.39387382C>T	ENSP00000327459:p.Arg257Cys		B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.478920	0.00165	.	.	ENSG00000179750	ENST00000402182;ENST00000333467	T;T	0.65732	-0.17;-0.17	2.0	-3.99	0.04069	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.23249	0.0562	N	0.01209	-0.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23904	-1.0175	9	0.02654	T	1	.	7.4587	0.27283	0.1637:0.6351:0.0:0.2012	.	257	Q9UH17	ABC3B_HUMAN	C	257	ENSP00000385060:R257C;ENSP00000327459:R257C	ENSP00000327459:R257C	R	+	1	0	APOBEC3B	37717328	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.296000	0.08287	-1.745000	0.01337	-0.628000	0.03992	CGC		0.567	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		T	39387382	C	T	39387382	3	4	244	1	0	0	0	0	1	0	0	0	790	768	27	1	791	1	APOBEC3B	22	39387382	Missense_Mutation	SNP	C	TCGA-B2-4098-01A-02D-1386-10	6832261	39387382	11917184	51	14833											
POLDIP3	84271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42992339	42992339	+	Silent	SNP	G	G	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr22:42992339G>T	ENST00000252115.5	-	5	770	c.666C>A	c.(664-666)tcC>tcA	p.S222S	POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_Silent_p.S66S|POLDIP3_ENST00000348657.2_Silent_p.S193S|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	222					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S222S(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGAGGGCCTTGGACATGGAAA	0.498																																					Ovarian(52;967 1128 5875 19997 42537)											1	Substitution - coding silent(1)	kidney(1)											112	102	105					22																	42992339		2203	4300	6503	SO:0001819	synonymous_variant	84271				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"RNA binding motif (RRM) containing"	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.666C>A	22.37:g.42992339G>T			A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	ENST00000252115.5	37	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281036	0.23392	.	.	ENSG00000100227	ENST00000452567	.	.	.	5.82	1.14	0.20703	.	.	.	.	.	T	0.64249	0.2581	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63699	-0.6578	5	0.72032	D	0.01	-0.0148	9.8444	0.41017	0.0:0.2349:0.41:0.3551	.	.	.	.	Q	157	.	ENSP00000394315:P157Q	P	-	2	0	POLDIP3	41322283	1.000000	0.71417	0.864000	0.33941	0.974000	0.67602	0.493000	0.22451	0.054000	0.16065	0.563000	0.77884	CCA		0.498	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		T	42992339	G	T	42992339	2	4	244	1	0	0	0	0	0	0	0	1	12197	1335	47	4		4	POLDIP3	22	42992339	Silent	SNP	G	TCGA-B2-4098-01A-02D-1386-10	3604957	42992339	8312227	52	14834											
ODZ1	10178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123839011	123839011	+	Silent	SNP	C	C	T	rs191615019		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chrX:123839011C>T	ENST00000371130.3	-	5	930	c.867G>A	c.(865-867)tcG>tcA	p.S289S	TENM1_ENST00000422452.2_Silent_p.S289S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	289	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S291S(1)									TGGGAGGGGGCGAGTACACGG	0.517													C|||	1	0.000264901	0.0	0.0014	3775	,	,		13148	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											136	125	129					X																	123839011		2203	4300	6503	SO:0001819	synonymous_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.867G>A	X.37:g.123839011C>T			B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																				0.517	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123839011	C	T	123839011	2	4	244	1	0	0	0	0	0	0	0	1	10836	755	27	1		1	ODZ1	23	123839011	Silent	SNP	C	TCGA-B2-4098-01A-02D-1386-10		123839011	31431549	53	14835											
CDC42	998	broad.mit.edu;hgsc.bcm.edu	37	1	22417987	22417987	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr1:22417987A>T	ENST00000344548.3	+	7	804	c.553A>T	c.(553-555)Agc>Tgc	p.S185C	CDC42_ENST00000421089.2_Missense_Mutation_p.S227C|CDC42_ENST00000400259.1_Missense_Mutation_p.S185C	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	185					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.S185C(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		ACCGAAGAAGAGCCGCAGGTG	0.453																																																2	Substitution - Missense(2)	kidney(2)											55	59	57					1																	22417987		2203	4300	6503	SO:0001583	missense	998			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"GTP binding protein, 25kDa"	116952	"cell division cycle 42 (GTP-binding protein, 25kD)", "cell division cycle 42 (GTP binding protein, 25kDa)"			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.553A>T	1.37:g.22417987A>T	ENSP00000341072:p.Ser185Cys		P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	ENST00000344548.3	37	CCDS221.1	.	.	.	.	.	.	.	.	.	.	a	12.95	2.090872	0.36855	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000421089	T;T;T	0.68181	-0.31;-0.31;0.12	5.22	5.22	0.72569	.	0.692891	0.16269	N	0.221860	T	0.65688	0.2715	M	0.64676	1.99	0.28121	N	0.930613	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.10450	0.005;0.004;0.005;0.002	T	0.62909	-0.6754	10	0.72032	D	0.01	.	13.9289	0.63981	1.0:0.0:0.0:0.0	.	227;230;227;185	E7ETU3;B4E1U9;B4DMH5;P60953	.;.;.;CDC42_HUMAN	C	185;185;227	ENSP00000383118:S185C;ENSP00000341072:S185C;ENSP00000398592:S227C	ENSP00000341072:S185C	S	+	1	0	CDC42	22290574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.852000	0.92215	1.978000	0.57642	0.374000	0.22700	AGC		0.453	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		T	22417987	A	T	22417987	3	4	245	1	0	0	0	0	1	0	0	0	3073	304	11	5	665	5	CDC42	1	22417987	Missense_Mutation	SNP	A	TCGA-B2-4099-01A-02D-1251-10		22417987	226832634	1	14836											
KDM4A	9682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44128741	44128741	+	Silent	SNP	T	T	C			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr1:44128741T>C	ENST00000372396.3	+	5	740	c.606T>C	c.(604-606)ttT>ttC	p.F202F	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	202	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F202F(2)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						ACCTGCACTTTGGAGAACCAA	0.527																																																2	Substitution - coding silent(2)	kidney(2)																																								SO:0001819	synonymous_variant	9682			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.606T>C	1.37:g.44128741T>C			Q5VVB1	Silent	SNP	ENST00000372396.3	37	CCDS491.1																																																																																				0.527	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		C	44128741	T	C	44128741	2	2	245	1	0	0	0	0	0	0	0	1	8130	1809	63	3		3	KDM4A	1	44128741	Silent	SNP	T	TCGA-B2-4099-01A-02D-1251-10	21710754	44128741	205121880	2	14837											
TMEM69	51249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46156752	46156752	+	Silent	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr1:46156752C>T	ENST00000372025.4	+	2	1169	c.12C>T	c.(10-12)ttC>ttT	p.F4F	TMEM69_ENST00000496366.1_Intron	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	4						integral component of membrane (GO:0016021)		p.F4F(2)		kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					TGCTTCGCTTCATCCAGAAGT	0.438																																																2	Substitution - coding silent(2)	kidney(2)											110	100	103					1																	46156752		1910	4128	6038	SO:0001819	synonymous_variant	51249			BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 154"	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.12C>T	1.37:g.46156752C>T			Q3SWW5|Q7Z2G0|Q9P0P9	Silent	SNP	ENST00000372025.4	37	CCDS41325.1																																																																																				0.438	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		T	46156752	C	T	46156752	2	4	245	1	0	0	0	0	0	0	0	1	16203	825	29	2		2	TMEM69	1	46156752	Silent	SNP	C	TCGA-B2-4099-01A-02D-1251-10	2028011	46156752	203093869	3	14838											
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237895427	237895427	+	Silent	SNP	C	C	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr1:237895427C>A	ENST00000366574.2	+	78	11334	c.11017C>A	c.(11017-11019)Cgg>Agg	p.R3673R	RYR2_ENST00000360064.6_Silent_p.R3671R|RYR2_ENST00000542537.1_Silent_p.R3657R|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3673					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R3671R(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGTTTAGTCGGACAGCTTT	0.443																																																2	Substitution - coding silent(2)	kidney(2)											96	96	96					1																	237895427		1854	4091	5945	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11017C>A	1.37:g.237895427C>A			Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237895427	C	A	237895427	2	1	245	1	0	0	0	0	0	0	0	1	13775	875	31	4		4	RYR2	1	237895427	Silent	SNP	C	TCGA-B2-4099-01A-02D-1251-10	191738675	237895427	11355194	4	14839											
CNST	163882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	246810555	246810555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr1:246810555delT	ENST00000366513.4	+	9	1321	c.1052delT	c.(1051-1053)cttfs	p.L351fs	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Frame_Shift_Del_p.L351fs	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	351					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCCCCAAGCCTTTCGGTAACT	0.582											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													84	85	84					1																	246810555		2203	4300	6503	SO:0001589	frameshift_variant	163882			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1052delT	1.37:g.246810555delT	ENSP00000355470:p.Leu351fs	2468	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Frame_Shift_Del	DEL	ENST00000366513.4	37	CCDS1628.1																																																																																				0.582	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		-	246810555	T	-	246810555	7	5	245	1	0	1	0	1	0	0	0	0	3636	1609	56	0	1082	0	CNST	1	246810555	Frame_Shift_Del	DEL	T	TCGA-B2-4099-01A-02D-1251-10	8915128	246810555	2440066	5	14840											
MYT1L	23040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1926721	1926721	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr2:1926721C>T	ENST00000399161.2	-	10	1567	c.820G>A	c.(820-822)Gtt>Att	p.V274I	MYT1L_ENST00000428368.2_Missense_Mutation_p.V274I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	274					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V274I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GAGAGCACAACACCGTGTCCT	0.428																																																2	Substitution - Missense(2)	kidney(2)											203	197	199					2																	1926721		1999	4175	6174	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.820G>A	2.37:g.1926721C>T	ENSP00000382114:p.Val274Ile		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	13.68	2.309365	0.40895	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.48201	0.82;0.82	5.87	5.87	0.94306	.	0.343543	0.29892	N	0.010937	T	0.36524	0.0970	N	0.24115	0.695	0.51767	D	0.99993	P;P	0.39782	0.688;0.571	B;B	0.33750	0.169;0.163	T	0.16100	-1.0414	10	0.39692	T	0.17	-24.9365	20.2033	0.98269	0.0:1.0:0.0:0.0	.	274;274	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	I	274;222;274	ENSP00000382114:V274I;ENSP00000396103:V274I	ENSP00000295067:V222I	V	-	1	0	MYT1L	1905728	1.000000	0.71417	0.115000	0.21578	0.184000	0.23303	7.744000	0.85034	2.779000	0.95612	0.655000	0.94253	GTT		0.428	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		T	1926721	C	T	1926721	3	4	245	1	0	0	0	0	1	0	0	0	10109	478	17	2	2798	2	MYT1L	2	1926721	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10		1926721	241272652	6	14841											
SLC4A7	9497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	27451006	27451006	+	Silent	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr3:27451006C>T	ENST00000295736.5	-	13	1825	c.1755G>A	c.(1753-1755)ttG>ttA	p.L585L	SLC4A7_ENST00000445684.1_Silent_p.L581L|SLC4A7_ENST00000440156.1_Silent_p.L581L|SLC4A7_ENST00000435667.2_Silent_p.L470L|SLC4A7_ENST00000455077.1_Silent_p.L466L|SLC4A7_ENST00000446700.1_Silent_p.L577L|SLC4A7_ENST00000388777.4_Silent_p.L135L|SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000437179.1_Silent_p.L466L|SLC4A7_ENST00000454389.1_Silent_p.L594L|SLC4A7_ENST00000428386.1_Silent_p.L461L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	585					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.L585L(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TGTCAAGTATCAAACCACCAA	0.408																																																2	Substitution - coding silent(2)	kidney(2)											81	81	81					3																	27451006		2203	4300	6503	SO:0001819	synonymous_variant	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1755G>A	3.37:g.27451006C>T			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	CCDS33721.1																																																																																				0.408	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		T	27451006	C	T	27451006	2	4	245	1	0	0	0	0	0	0	0	1	14664	825	29	2		2	SLC4A7	3	27451006	Silent	SNP	C	TCGA-B2-4099-01A-02D-1251-10		27451006	170571424	7	14842											
SEMA3F	6405	broad.mit.edu	37	3	50225421	50225421	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr3:50225421A>T	ENST00000002829.3	+	19	2715	c.2231A>T	c.(2230-2232)cAg>cTg	p.Q744L	SEMA3F_ENST00000413852.1_Missense_Mutation_p.Q645L|SEMA3F_ENST00000434342.1_Missense_Mutation_p.Q713L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	744					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)	p.Q744L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CTCATCCACCAGTACTGCCAG	0.692																																																1	Substitution - Missense(1)	kidney(1)											8	9	9					3																	50225421		2168	4237	6405	SO:0001583	missense	6405			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.2231A>T	3.37:g.50225421A>T	ENSP00000002829:p.Gln744Leu		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691128	0.88735	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.55760	0.59;0.5;0.58	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	M	0.64997	1.995	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.996	T	0.73161	-0.4070	10	0.87932	D	0	.	14.6966	0.69126	1.0:0.0:0.0:0.0	.	713;744	C9JQ85;Q13275	.;SEM3F_HUMAN	L	645;744;713	ENSP00000388931:Q645L;ENSP00000002829:Q744L;ENSP00000409859:Q713L	ENSP00000002829:Q744L	Q	+	2	0	SEMA3F	50200425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.974000	0.70465	2.111000	0.64477	0.379000	0.24179	CAG		0.692	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		T	50225421	A	T	50225421	3	4	245	1	0	0	0	0	1	0	0	0	14035	188	7	5	2301	5	SEMA3F	3	50225421	Missense_Mutation	SNP	A	TCGA-B2-4099-01A-02D-1251-10	22774415	50225421	147797009	8	14843											
C3orf45	132228	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	50324620	50324620	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr3:50324620A>T	ENST00000316436.3	+	4	569	c.482A>T	c.(481-483)cAa>cTa	p.Q161L	IFRD2_ENST00000484043.1_5'Flank	NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	161						integral component of membrane (GO:0016021)		p.Q161L(2)									AGTGAGGCCCAAGCACCCAGC	0.612																																																2	Substitution - Missense(2)	kidney(2)											53	52	53					3																	50324620		2203	4300	6503	SO:0001583	missense	132228			AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 45"	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.482A>T	3.37:g.50324620A>T	ENSP00000315081:p.Gln161Leu			Missense_Mutation	SNP	ENST00000316436.3	37	CCDS2814.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993785	0.35131	.	.	ENSG00000179564	ENST00000316436	.	.	.	4.72	-0.487	0.12060	.	0.692000	0.12587	N	0.455867	T	0.17619	0.0423	N	0.08118	0	0.23089	N	0.998315	B	0.24721	0.11	B	0.22601	0.04	T	0.17961	-1.0352	9	0.62326	D	0.03	1.3983	7.9458	0.29985	0.4904:0.0:0.5096:0.0	.	161	Q8N112	CC045_HUMAN	L	161	.	ENSP00000315081:Q161L	Q	+	2	0	C3orf45	50299624	0.001000	0.12720	0.693000	0.30195	0.679000	0.39708	-0.033000	0.12246	-0.306000	0.08818	-0.379000	0.06801	CAA		0.612	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215		T	50324620	A	T	50324620	3	4	245	1	0	0	0	0	1	0	0	0	2233	130	5	5	496	5	C3orf45	3	50324620	Missense_Mutation	SNP	A	TCGA-B2-4099-01A-02D-1251-10	99199	50324620	147697810	9	14844											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52620529	52620550	+	Frame_Shift_Del	DEL	ACAGAGGCCACGCGAACCACAG	ACAGAGGCCACGCGAACCACAG	-	rs143085435|rs201156614|rs141958485		TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	ACAGAGGCCACGCGAACCACAG	ACAGAGGCCACGCGAACCACAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr3:52620529_52620550delACAGAGGCCACGCGAACCACAG	ENST00000296302.7	-	20	3279_3300	c.3278_3299delCTGTGGTTCGCGTGGCCTCTGT	c.(3277-3300)cctgtggttcgcgtggcctctgtafs	p.PVVRVASV1093fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.PVVRVASV1108fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.PVVRVASV1068fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.PVVRVASV1061fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.PVVRVASV1108fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.PVVRVASV1093fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.PVVRVASV1068fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.PVVRVASV1093fs			Q86U86	PB1_HUMAN	polybromo 1	1093					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V1094fs*13(2)|p.V1062fs*13(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTTGCAAATACAGAGGCCACGCGAACCACAGGCAGAGGCAC	0.437			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Insertion - Frameshift(3)	kidney(3)																																								SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3278_3299delCTGTGGTTCGCGTGGCCTCTGT	3.37:g.52620529_52620550delACAGAGGCCACGCGAACCACAG	ENSP00000296302:p.Pro1093fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.437	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52620550	ACAGAGGCCACGCGAACCACAG	-	52620529	7	5	245	1	0	1	0	1	0	0	0	0	11493	391	14	0	1645	0	PBRM1	3	52620529	Frame_Shift_Del	DEL	ACAGAGGCCACGCGAACCACAG	TCGA-B2-4099-01A-02D-1251-10	2295909	52620529	145401901	10	14845											
OR5H1	26341	hgsc.bcm.edu;ucsc.edu	37	3	97852455	97852456	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr3:97852455_97852456insA	ENST00000354565.2	+	1	914_915	c.914_915insA	c.(913-918)ttaaaafs	p.LK305fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H308fs*3(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ACAAAAATGTTAAAAAAACATG	0.322																																																1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	26341			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.921dupA	3.37:g.97852462_97852462dupA	ENSP00000346575:p.Leu305fs			Frame_Shift_Ins	INS	ENST00000354565.2	37	CCDS33797.1																																																																																				0.322	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		A	97852456	-	A	97852455	7	5	245	1	0	1	1	0	0	0	0	0	11161	1764	61	0	916	0	OR5H1	3	97852455	Frame_Shift_Ins	INS	-	TCGA-B2-4099-01A-02D-1251-10	45231926	97852455	100169975	11	14846											
ALG3	10195	broad.mit.edu	37	3	183961713	183961713	+	Silent	SNP	G	G	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr3:183961713G>T	ENST00000397676.3	-	6	828	c.798C>A	c.(796-798)cgC>cgA	p.R266R	ALG3_ENST00000455059.1_Silent_p.R226R|MIR1224_ENST00000408193.1_RNA|ALG3_ENST00000445626.2_Silent_p.R218R|ALG3_ENST00000418734.2_Silent_p.R210R|ALG3_ENST00000463495.1_5'UTR|EIF2B5_ENST00000444495.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	266					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)	p.R218R(1)|p.R266R(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAGAAACTGGCGGCCAAGGT	0.622																																																2	Substitution - coding silent(2)	kidney(2)											39	46	44					3																	183961713		1990	4154	6144	SO:0001819	synonymous_variant	10195			BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.798C>A	3.37:g.183961713G>T			A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289780	0.23478	.	.	ENSG00000214160	ENST00000446569	.	.	.	5.58	2.52	0.30459	.	.	.	.	.	T	0.55940	0.1952	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49184	-0.8966	4	.	.	.	-13.0521	7.8726	0.29576	0.2316:0.1925:0.576:0.0	.	.	.	.	T	170	.	.	P	-	1	0	ALG3	185444407	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.436000	0.21526	0.678000	0.31325	0.555000	0.69702	CCA		0.622	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		T	183961713	G	T	183961713	2	4	245	1	0	0	0	0	0	0	0	1	520	1190	42	4		4	ALG3	3	183961713	Silent	SNP	G	TCGA-B2-4099-01A-02D-1251-10	86109258	183961713	14060717	12	14847											
RUFY3	22902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71648807	71648807	+	Splice_Site	SNP	G	G	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr4:71648807G>T	ENST00000226328.4	+	9	1457		c.e9-1		RUFY3_ENST00000381006.3_Splice_Site|RUFY3_ENST00000536664.1_Splice_Site|RUFY3_ENST00000417478.2_Splice_Site|RUFY3_ENST00000502653.1_Splice_Site	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)		p.?(4)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			tttatCCACAGCTTGCAGTTG	0.318																																																4	Unknown(4)	kidney(4)											52	49	50					4																	71648807		2203	4300	6503	SO:0001630	splice_region_variant	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.895-1G>T	4.37:g.71648807G>T			B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Splice_Site	SNP	ENST00000226328.4	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496650	0.85069	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7083	0.91646	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RUFY3	71867671	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.466000	0.97665	2.823000	0.97156	0.643000	0.83706	.		0.318	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961	Intron	T	71648807	G	T	71648807	5	4	245	1	0	0	0	0	0	0	1	0	13746	985	34	4	1290	4	RUFY3	4	71648807	Splice_Site	SNP	G	TCGA-B2-4099-01A-02D-1251-10		71648807	119505469	13	14848											
PTPN13	5783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87696460	87696460	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr4:87696460C>T	ENST00000411767.2	+	34	5708	c.5645C>T	c.(5644-5646)cCg>cTg	p.P1882L	PTPN13_ENST00000427191.2_Missense_Mutation_p.P1863L|PTPN13_ENST00000316707.6_Missense_Mutation_p.P1691L|PTPN13_ENST00000436978.1_Missense_Mutation_p.P1887L|PTPN13_ENST00000511467.1_Missense_Mutation_p.P1887L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1882	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.P1887L(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CATTTGCTACCGGACATAACA	0.383																																																2	Substitution - Missense(2)	kidney(2)											83	76	79					4																	87696460		1865	4114	5979	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5645C>T	4.37:g.87696460C>T	ENSP00000407249:p.Pro1882Leu		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373313	0.42105	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.15	4.31	0.51392	PDZ/DHR/GLGF (1);	0.000000	0.48767	D	0.000176	T	0.49457	0.1558	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	T	0.52132	-0.8616	10	0.56958	D	0.05	.	13.9344	0.64017	0.0:0.9261:0.0:0.0739	.	1691;1863;1882;1887	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	L	1863;1887;1691;1882;1887;1831	ENSP00000408368:P1863L;ENSP00000394794:P1887L;ENSP00000322675:P1691L;ENSP00000407249:P1882L;ENSP00000426626:P1887L	ENSP00000322675:P1691L	P	+	2	0	PTPN13	87915484	1.000000	0.71417	0.967000	0.41034	0.020000	0.10135	7.021000	0.76425	1.302000	0.44855	-0.384000	0.06662	CCG		0.383	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			T	87696460	C	T	87696460	3	4	245	1	0	0	0	0	1	0	0	0	12788	652	23	1	5790	1	PTPN13	4	87696460	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10	16047653	87696460	103457816	14	14849											
MAD2L1	4085	broad.mit.edu;hgsc.bcm.edu	37	4	120981284	120981284	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr4:120981284C>T	ENST00000296509.6	-	5	946	c.607G>A	c.(607-609)Gtc>Atc	p.V203I		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	203	Required for assuming the closed conformation and for interaction with CDC20.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.V203I(2)		breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CAGTCATTGACAGGAATTTTG	0.353																																																2	Substitution - Missense(2)	kidney(2)											125	120	122					4																	120981284		2203	4300	6503	SO:0001583	missense	4085			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.607G>A	4.37:g.120981284C>T	ENSP00000296509:p.Val203Ile		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	ENST00000296509.6	37	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480158	0.44044	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.13	4.29	0.51040	DNA-binding HORMA (1);	0.461170	0.23219	N	0.050583	T	0.26159	0.0638	N	0.14661	0.345	0.23620	N	0.997279	B	0.13594	0.008	B	0.08055	0.003	T	0.14671	-1.0464	9	0.37606	T	0.19	-7.8462	11.6639	0.51363	0.0:0.9124:0.0:0.0876	.	203	Q13257	MD2L1_HUMAN	I	203	.	ENSP00000296509:V203I	V	-	1	0	MAD2L1	121200732	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	2.168000	0.42424	1.293000	0.44690	0.591000	0.81541	GTC		0.353	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2			T	120981284	C	T	120981284	3	4	245	1	0	0	0	0	1	0	0	0	9150	478	17	2	14	2	MAD2L1	4	120981284	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10	33284824	120981284	70172992	15	14850											
TMEM184C	55751	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	148545115	148545115	+	Splice_Site	SNP	G	G	C			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr4:148545115G>C	ENST00000296582.3	+	2	828	c.254G>C	c.(253-255)aGg>aCg	p.R85T	TMEM184C_ENST00000508208.1_Splice_Site_p.R85T	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	85						integral component of membrane (GO:0016021)		p.R85T(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CCAATAATAAGGTATGTCTTA	0.308																																																2	Substitution - Missense(2)	kidney(2)											114	115	115					4																	148545115		2203	4300	6503	SO:0001630	splice_region_variant	55751			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.254+1G>C	4.37:g.148545115G>C			D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148181	0.78001	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.54071	0.59;0.59	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.81931	0.4927	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86897	0.2052	10	0.72032	D	0.01	-21.5	19.5645	0.95388	0.0:0.0:1.0:0.0	.	85	Q9NVA4	T184C_HUMAN	T	85	ENSP00000296582:R85T;ENSP00000425940:R85T	ENSP00000296582:R85T	R	+	2	0	TMEM184C	148764565	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	9.813000	0.99286	2.695000	0.91970	0.557000	0.71058	AGG		0.308	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241	Missense_Mutation	C	148545115	G	C	148545115	5	2	245	1	0	0	0	0	0	0	1	0	16111	1014	35	4	260	4	TMEM184C	4	148545115	Splice_Site	SNP	G	TCGA-B2-4099-01A-02D-1251-10	27563831	148545115	42609161	16	14851											
ADAM29	11086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	175898846	175898846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr4:175898846C>T	ENST00000359240.3	+	5	2840	c.2170C>T	c.(2170-2172)Cga>Tga	p.R724*	ADAM29_ENST00000445694.1_Nonsense_Mutation_p.R724*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.R724*|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.R724*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	724					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R724*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTCAGCGTCGACCTCATGA	0.438																																					Ovarian(140;1727 1835 21805 25838 41440)											2	Substitution - Nonsense(2)	kidney(2)											88	84	86					4																	175898846		2203	4300	6503	SO:0001587	stop_gained	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2170C>T	4.37:g.175898846C>T	ENSP00000352177:p.Arg724*		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	36	5.881771	0.97062	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	.	.	.	1.24	-2.48	0.06423	.	.	.	.	.	.	.	.	.	.	.	0.42751	D	0.993773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3505	0.00348	0.2708:0.3076:0.2237:0.1979	.	.	.	.	X	724	.	.	R	+	1	2	ADAM29	176135421	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.267000	0.18552	-1.153000	0.02829	-0.294000	0.09567	CGA		0.438	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				T	175898846	C	T	175898846	4	4	245	1	0	0	0	0	0	1	0	0	247	876	31	1	2172	1	ADAM29	4	175898846	Nonsense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10	27353731	175898846	15255430	17	14852											
CDH18	1016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	19520813	19520813	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr5:19520813C>A	ENST00000507958.1	-	12	2455	c.1465G>T	c.(1465-1467)Gcc>Tcc	p.A489S	CDH18_ENST00000382275.1_Missense_Mutation_p.A489S|CDH18_ENST00000274170.4_Missense_Mutation_p.A489S|CDH18_ENST00000511273.1_Missense_Mutation_p.A489S|CDH18_ENST00000502796.1_Missense_Mutation_p.A489S|CDH18_ENST00000506372.1_Missense_Mutation_p.A489S			Q13634	CAD18_HUMAN	cadherin 18, type 2	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A489S(4)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TATTCCCTGGCAAGTTCGGGT	0.393																																																4	Substitution - Missense(4)	kidney(4)											127	128	128					5																	19520813		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1465G>T	5.37:g.19520813C>A	ENSP00000425093:p.Ala489Ser		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386054	0.42308	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	5.22	5.22	0.72569	Cadherin (2);Cadherin-like (1);	0.107611	0.64402	D	0.000006	T	0.50326	0.1609	L	0.52206	1.635	0.37903	D	0.931102	B;B	0.18310	0.021;0.027	B;B	0.18561	0.009;0.022	T	0.49457	-0.8938	9	.	.	.	.	12.7687	0.57408	0.1641:0.8359:0.0:0.0	.	489;489	B4DHG6;Q13634	.;CAD18_HUMAN	S	489	ENSP00000371710:A489S;ENSP00000425093:A489S;ENSP00000274170:A489S;ENSP00000424931:A489S;ENSP00000422138:A489S;ENSP00000425854:A489S	.	A	-	1	0	CDH18	19556570	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.628000	0.54259	2.601000	0.87937	0.650000	0.86243	GCC		0.393	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		A	19520813	C	A	19520813	3	1	245	1	0	0	0	0	1	0	0	0	3105	710	25	4	923	4	CDH18	5	19520813	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10		19520813	161394447	18	14853											
FNIP1	96459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131008580	131008580	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr5:131008580T>G	ENST00000510461.1	-	14	1652	c.1557A>C	c.(1555-1557)ttA>ttC	p.L519F	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.L474F|FNIP1_ENST00000307968.7_Missense_Mutation_p.L491F	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	519					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L519F(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CAGTCCTTGCTAACCGTACGG	0.403																																																2	Substitution - Missense(2)	kidney(2)											75	78	77					5																	131008580		2203	4299	6502	SO:0001583	missense	96459			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1557A>C	5.37:g.131008580T>G	ENSP00000421985:p.Leu519Phe		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974557	0.53720	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.36878	1.23;1.23;1.23	5.88	4.71	0.59529	.	.	.	.	.	T	0.56217	0.1970	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.974	T	0.56312	-0.8000	9	0.46703	T	0.11	-1.3374	7.1374	0.25535	0.1302:0.069:0.0:0.8009	.	519;491;519	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	F	491;474;279;519	ENSP00000309266:L491F;ENSP00000310453:L474F;ENSP00000421985:L519F	ENSP00000310453:L474F	L	-	3	2	FNIP1	131036479	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.997000	0.49457	1.046000	0.40249	0.533000	0.62120	TTA		0.403	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		G	131008580	T	G	131008580	3	3	245	1	0	0	0	0	1	0	0	0	5977	1519	53	5	1963	5	FNIP1	5	131008580	Missense_Mutation	SNP	T	TCGA-B2-4099-01A-02D-1251-10	111487767	131008580	49906680	19	14854											
TGFBI	7045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	135379760	135379760	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr5:135379760G>A	ENST00000442011.2	+	3	408	c.247G>A	c.(247-249)Gag>Aag	p.E83K	TGFBI_ENST00000504185.1_3'UTR|TGFBI_ENST00000305126.8_Missense_Mutation_p.E83K	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	83	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.E83K(2)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCAGCTACGAGTGCTGTCC	0.537																																																2	Substitution - Missense(2)	kidney(2)											187	189	188					5																	135379760		2029	4195	6224	SO:0001583	missense	7045			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.247G>A	5.37:g.135379760G>A	ENSP00000416330:p.Glu83Lys		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433930	0.83776	.	.	ENSG00000120708	ENST00000442011;ENST00000305126	D;D	0.91792	-2.91;-2.91	5.64	5.64	0.86602	EMI domain (1);FAS1 domain (2);	0.045917	0.85682	D	0.000000	D	0.92325	0.7565	M	0.74647	2.275	0.80722	D	1	B	0.20550	0.046	B	0.17433	0.018	D	0.89343	0.3655	10	0.87932	D	0	-1.4839	19.6813	0.95964	0.0:0.0:1.0:0.0	.	83	Q15582	BGH3_HUMAN	K	83	ENSP00000416330:E83K;ENSP00000306306:E83K	ENSP00000306306:E83K	E	+	1	0	TGFBI	135407659	1.000000	0.71417	0.969000	0.41365	0.903000	0.53119	9.578000	0.98200	2.653000	0.90120	0.655000	0.94253	GAG		0.537	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			A	135379760	G	A	135379760	3	1	245	1	0	0	0	0	1	0	0	0	15825	1059	37	1	257	1	TGFBI	5	135379760	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1251-10	4371180	135379760	45535500	20	14855											
PCDHB6	56130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140532190	140532190	+	Silent	SNP	C	C	A	rs146937630		TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr5:140532190C>A	ENST00000231136.1	+	1	2352	c.2352C>A	c.(2350-2352)acC>acA	p.T784T	PCDHB6_ENST00000543635.1_Silent_p.T648T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	784					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T784T(3)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGAAGAAACCCCCACCTCTC	0.433																																																3	Substitution - coding silent(3)	kidney(2)|skin(1)											90	99	96					5																	140532190		2202	4300	6502	SO:0001819	synonymous_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2352C>A	5.37:g.140532190C>A			B2R8R9	Silent	SNP	ENST00000231136.1	37	CCDS4248.1																																																																																				0.433	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		A	140532190	C	A	140532190	2	1	245	1	0	0	0	0	0	0	0	1	11548	610	22	4		4	PCDHB6	5	140532190	Silent	SNP	C	TCGA-B2-4099-01A-02D-1251-10	5152430	140532190	40383070	21	14856											
NSD1	64324	broad.mit.edu;hgsc.bcm.edu	37	5	176665505	176665505	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr5:176665505C>G	ENST00000439151.2	+	7	4234	c.4189C>G	c.(4189-4191)Cca>Gca	p.P1397A	NSD1_ENST00000347982.4_Missense_Mutation_p.P1128A|NSD1_ENST00000361032.4_Missense_Mutation_p.P1294A|NSD1_ENST00000354179.4_Missense_Mutation_p.P1128A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1397				P -> Q (in Ref. 3; AAK92049). {ECO:0000305}.	gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P1397A(4)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGTTAAAACGCCAGGTAAGGT	0.478			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	4	Substitution - Missense(4)	kidney(4)											80	81	81					5																	176665505		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4189C>G	5.37:g.176665505C>G	ENSP00000395929:p.Pro1397Ala		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.439907	0.25900	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93019	-3.04;-3.07;-3.04;-3.15	5.44	3.33	0.38152	.	0.304822	0.28901	N	0.013764	D	0.83599	0.5289	N	0.14661	0.345	0.29566	N	0.850247	B;B;B	0.20988	0.005;0.05;0.01	B;B;B	0.13407	0.009;0.009;0.006	T	0.74481	-0.3651	10	0.36615	T	0.2	.	5.1439	0.14973	0.2005:0.6795:0.0:0.12	.	1128;1294;1397	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	A	1128;1397;1128;1294	ENSP00000346111:P1128A;ENSP00000395929:P1397A;ENSP00000343209:P1128A;ENSP00000354310:P1294A	ENSP00000343209:P1128A	P	+	1	0	NSD1	176598111	0.998000	0.40836	0.999000	0.59377	0.994000	0.84299	0.358000	0.20216	0.763000	0.33175	0.655000	0.94253	CCA		0.478	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		G	176665505	C	G	176665505	3	3	245	1	0	0	0	0	1	0	0	0	10671	739	26	4	4211	4	NSD1	5	176665505	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10	36133315	176665505	4249755	22	14857											
ZUFSP	221302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	116977892	116977892	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr6:116977892C>T	ENST00000368576.3	-	5	1159	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	306							metal ion binding (GO:0046872)	p.E306K(2)		NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GCTAATGATTCCATCATATCA	0.348																																																2	Substitution - Missense(2)	kidney(2)											112	103	106					6																	116977892		2203	4299	6502	SO:0001583	missense	221302			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"Zinc fingers, C2H2-type"	21224	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 113"	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.916G>A	6.37:g.116977892C>T	ENSP00000357565:p.Glu306Lys		Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336175	0.95758	.	.	ENSG00000153975	ENST00000368576	T	0.44881	0.91	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.36817	-0.9732	10	0.28530	T	0.3	-23.3391	20.0079	0.97439	0.0:1.0:0.0:0.0	.	306	Q96AP4	ZUFSP_HUMAN	K	306	ENSP00000357565:E306K	ENSP00000357565:E306K	E	-	1	0	ZUFSP	117084585	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.089000	0.76909	2.726000	0.93360	0.561000	0.74099	GAA		0.348	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		T	116977892	C	T	116977892	3	4	245	1	0	0	0	0	1	0	0	0	18251	864	30	2	844	2	ZUFSP	6	116977892	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10		116977892	54137175	23	14858											
HOXA10	3206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	27211532	27211533	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr7:27211532_27211533delAG	ENST00000283921.4	-	2	1217_1218	c.1218_1219delCT	c.(1216-1221)aactttfs	p.F407fs	HOXA9_ENST00000497089.1_5'Flank|HOXA10_ENST00000396344.4_Frame_Shift_Del_p.F91fs|HOXA-AS4_ENST00000519694.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|MIR196B_ENST00000384852.1_RNA|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519935.1_RNA	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	407					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						GAAAAATTAAAGTTGGCTGTGA	0.515																																																0																																										SO:0001589	frameshift_variant	3206				CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"Homeoboxes / ANTP class : HOXL subclass"	5100	protein-coding gene	gene with protein product		142957	"homeo box A10"	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.1218_1219delCT	7.37:g.27211532_27211533delAG	ENSP00000283921:p.Phe407fs		O43370|O43605|Q15949|Q504T1	Frame_Shift_Del	DEL	ENST00000283921.4	37	CCDS5410.2																																																																																				0.515	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			-	27211533	AG	-	27211532	7	5	245	1	0	1	0	1	0	0	0	0	7291	72	3	0	17	0	HOXA10	7	27211532	Frame_Shift_Del	DEL	AG	TCGA-B2-4099-01A-02D-1251-10		27211532	131927131	24	14859											
WBSCR28	135886	broad.mit.edu	37	7	73280191	73280191	+	Silent	SNP	T	T	C			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr7:73280191T>C	ENST00000320531.2	+	3	822	c.786T>C	c.(784-786)acT>acC	p.T262T		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	262						integral component of membrane (GO:0016021)		p.T262T(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				AGCAAGAAACTCCCAGAGAAT	0.542																																																1	Substitution - coding silent(1)	kidney(1)											85	95	91					7																	73280191		2000	4171	6171	SO:0001819	synonymous_variant	135886			BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.786T>C	7.37:g.73280191T>C			Q6UE04|Q8NHP4	Silent	SNP	ENST00000320531.2	37	CCDS43597.1																																																																																				0.542	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		C	73280191	T	C	73280191	2	2	245	1	0	0	0	0	0	0	0	1	17272	1538	54	3		3	WBSCR28	7	73280191	Silent	SNP	T	TCGA-B2-4099-01A-02D-1251-10	46068659	73280191	85858472	25	14860											
CUL1	8454	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148485659	148485659	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr7:148485659G>A	ENST00000325222.4	+	14	1769	c.1490G>A	c.(1489-1491)gGg>gAg	p.G497E	CUL1_ENST00000602748.1_Missense_Mutation_p.G497E|CUL1_ENST00000409469.1_Missense_Mutation_p.G497E	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	497					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.G497E(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAAGCTTGCGGGTTCGAGTAC	0.388																																																2	Substitution - Missense(2)	kidney(2)											100	96	97					7																	148485659		2203	4300	6503	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1490G>A	7.37:g.148485659G>A	ENSP00000326804:p.Gly497Glu		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218162	0.95104	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.86956	-2.19;-2.19	5.39	5.39	0.77823	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97461	1.0034	10	0.87932	D	0	-8.6532	19.5308	0.95228	0.0:0.0:1.0:0.0	.	424;497	E7EWR0;Q13616	.;CUL1_HUMAN	E	497;497;455;424	ENSP00000387160:G497E;ENSP00000326804:G497E	ENSP00000326804:G497E	G	+	2	0	CUL1	148116592	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.499000	0.97975	2.684000	0.91462	0.650000	0.86243	GGG		0.388	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		A	148485659	G	A	148485659	3	1	245	1	0	0	0	0	1	0	0	0	4056	1232	43	2	1540	2	CUL1	7	148485659	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1251-10	75205468	148485659	10653004	26	14861											
PIGO	84720	broad.mit.edu	37	9	35095479	35095479	+	Silent	SNP	G	G	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr9:35095479G>A	ENST00000378617.3	-	2	478	c.84C>T	c.(82-84)ttC>ttT	p.F28F	PIGO_ENST00000298004.5_Silent_p.F28F|PIGO_ENST00000341666.3_Silent_p.F28F|PIGO_ENST00000492770.1_5'UTR|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000361778.2_Silent_p.F28F	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	28					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.F28F(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGTGAGCAGGAAGCCACTGG	0.617																																																1	Substitution - coding silent(1)	kidney(1)											27	28	28					9																	35095479		2203	4300	6503	SO:0001819	synonymous_variant	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.84C>T	9.37:g.35095479G>A			B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	CCDS6575.1																																																																																				0.617	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		A	35095479	G	A	35095479	2	1	245	1	0	0	0	0	0	0	0	1	11896	1165	41	2		2	PIGO	9	35095479	Silent	SNP	G	TCGA-B2-4099-01A-02D-1251-10		35095479	106117952	27	14862											
SLC16A9	220963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61414026	61414026	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr10:61414026A>T	ENST00000395348.3	-	5	1394	c.758T>A	c.(757-759)cTt>cAt	p.L253H	SLC16A9_ENST00000395347.1_Missense_Mutation_p.L253H	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	253					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.L253H(2)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GTTTTTATGAAGTAGGCTGTC	0.403																																																2	Substitution - Missense(2)	kidney(2)											248	232	237					10																	61414026		2203	4300	6503	SO:0001583	missense	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.758T>A	10.37:g.61414026A>T	ENSP00000378757:p.Leu253His		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	A	0.017	-1.505394	0.00992	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.04758	3.56;3.56	4.74	0.706	0.18133	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.974010	0.02169	N	0.059493	T	0.05090	0.0136	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.42310	-0.9459	10	0.16896	T	0.51	.	1.3395	0.02151	0.5442:0.1508:0.1601:0.1449	.	253	Q7RTY1	MOT9_HUMAN	H	253	ENSP00000378757:L253H;ENSP00000378756:L253H	ENSP00000378756:L253H	L	-	2	0	SLC16A9	61084032	0.141000	0.22595	0.014000	0.15608	0.045000	0.14185	1.813000	0.38962	0.170000	0.19704	0.482000	0.46254	CTT		0.403	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		T	61414026	A	T	61414026	3	4	245	1	0	0	0	0	1	0	0	0	14421	72	3	5	779	5	SLC16A9	10	61414026	Missense_Mutation	SNP	A	TCGA-B2-4099-01A-02D-1251-10		61414026	74120721	28	14863											
NPM3	10360	hgsc.bcm.edu;ucsc.edu	37	10	103542318	103542319	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr10:103542318_103542319insA	ENST00000370110.5	-	3	262_263	c.240_241insT	c.(238-243)aatgtgfs	p.V81fs	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	81					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACTTCTACCACATTACACTCGT	0.569																																																0																																										SO:0001589	frameshift_variant	10360			AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.241dupT	10.37:g.103542319_103542319dupA	ENSP00000359128:p.Val81fs		Q9UNY6	Frame_Shift_Ins	INS	ENST00000370110.5	37	CCDS7519.1																																																																																				0.569	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		A	103542319	-	A	103542318	7	5	245	1	0	1	1	0	0	0	0	0	10591	478	17	0	307	0	NPM3	10	103542318	Frame_Shift_Ins	INS	-	TCGA-B2-4099-01A-02D-1251-10	42128292	103542318	31992429	29	14864											
SLK	9748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105752775	105752775	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr10:105752775delA	ENST00000369755.3	+	4	943	c.398delA	c.(397-399)caafs	p.Q133fs	SLK_ENST00000335753.4_Frame_Shift_Del_p.Q133fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCCCAAATACAAGTAGTTTGC	0.333																																					NSCLC(111;540 1651 1927 4474 17706)											0													88	91	90					10																	105752775		2203	4299	6502	SO:0001589	frameshift_variant	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.398delA	10.37:g.105752775delA	ENSP00000358770:p.Gln133fs		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Frame_Shift_Del	DEL	ENST00000369755.3	37	CCDS7553.1																																																																																				0.333	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		-	105752775	A	-	105752775	7	5	245	1	0	1	0	1	0	0	0	0	14754	130	5	0	412	0	SLK	10	105752775	Frame_Shift_Del	DEL	A	TCGA-B2-4099-01A-02D-1251-10	2210457	105752775	29781972	30	14865											
RAB11FIP2	22841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	119805451	119805451	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr10:119805451C>T	ENST00000355624.3	-	1	663	c.224G>A	c.(223-225)gGa>gAa	p.G75E	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.G75E|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|CASC2_ENST00000454857.1_RNA|CASC2_ENST00000414722.1_RNA|CASC2_ENST00000426021.1_RNA|CASC2_ENST00000435944.1_RNA|CASC2_ENST00000454781.1_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	75	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for its cellular translocation to the plasma membrane.				establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.G75E(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		CTCTGGACTTCCCTGAATTAG	0.463																																																2	Substitution - Missense(2)	kidney(2)											116	111	113					10																	119805451		2203	4300	6503	SO:0001583	missense	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.224G>A	10.37:g.119805451C>T	ENSP00000347839:p.Gly75Glu		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	C	9.214	1.031720	0.19590	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.67698	-0.28;-0.28	5.0	5.0	0.66597	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.104089	0.64402	D	0.000003	T	0.49372	0.1553	N	0.13003	0.285	0.47862	D	0.999539	B;B	0.18013	0.02;0.025	B;B	0.29077	0.049;0.098	T	0.46498	-0.9187	10	0.37606	T	0.19	-13.8547	9.2394	0.37486	0.0:0.8317:0.0:0.1683	.	75;75	Q3I768;Q7L804	.;RFIP2_HUMAN	E	75	ENSP00000347839:G75E;ENSP00000358200:G75E	ENSP00000347839:G75E	G	-	2	0	RAB11FIP2	119795441	0.996000	0.38824	0.999000	0.59377	0.942000	0.58702	4.760000	0.62235	2.498000	0.84270	0.555000	0.69702	GGA		0.463	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		T	119805451	C	T	119805451	3	4	245	1	0	0	0	0	1	0	0	0	12900	855	30	2	1334	2	RAB11FIP2	10	119805451	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10	14052676	119805451	15729296	31	14866											
OR56A4	120793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6024124	6024124	+	Silent	SNP	G	G	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr11:6024124G>A	ENST00000330728.4	-	1	300	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P85P(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGCTGAGGGGCAGAGACA	0.582																																																2	Substitution - coding silent(2)	kidney(2)											84	80	81					11																	6024124		2201	4296	6497	SO:0001819	synonymous_variant	120793			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.255C>T	11.37:g.6024124G>A			B9EH17	Silent	SNP	ENST00000330728.4	37	CCDS31404.1																																																																																				0.582	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		A	6024124	G	A	6024124	2	1	245	1	0	0	0	0	0	0	0	1	11137	1219	43	2		2	OR56A4	11	6024124	Silent	SNP	G	TCGA-B2-4099-01A-02D-1251-10		6024124	128982392	32	14867											
DNHD1	144132	broad.mit.edu;hgsc.bcm.edu	37	11	6585252	6585252	+	Silent	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr11:6585252C>T	ENST00000527990.2	+	29	10182	c.10182C>T	c.(10180-10182)tgC>tgT	p.C3394C	DNHD1_ENST00000254579.6_Silent_p.C3394C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3394					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.C3394C(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCACAACTGCGTGGCAAAGA	0.582																																																2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											59	58	58					11																	6585252		692	1591	2283	SO:0001819	synonymous_variant	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.10182C>T	11.37:g.6585252C>T			Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																				0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6585252	C	T	6585252	2	4	245	1	0	0	0	0	0	0	0	1	4670	776	27	1		1	DNHD1	11	6585252	Silent	SNP	C	TCGA-B2-4099-01A-02D-1251-10	561128	6585252	128421264	33	14868											
MICALCL	84953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	12376331	12376331	+	Splice_Site	SNP	G	G	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr11:12376331G>T	ENST00000256186.2	+	8	2121	c.1830G>T	c.(1828-1830)atG>atT	p.M610I		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	610					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.M610I(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCTCACCCAGGGCCCAGGAAC	0.403																																																2	Substitution - Missense(2)	kidney(2)											57	55	55					11																	12376331		1827	4079	5906	SO:0001630	splice_region_variant	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1830-1G>T	11.37:g.12376331G>T			Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556037	0.27827	.	.	ENSG00000133808	ENST00000256186	T	0.41758	0.99	5.81	5.81	0.92471	Domain of unknown function DUF3585 (1);	0.220439	0.22437	U	0.060069	T	0.29882	0.0747	N	0.25992	0.78	0.80722	D	1	B	0.19583	0.037	B	0.21546	0.035	T	0.08932	-1.0698	9	.	.	.	.	11.4179	0.49962	0.1132:0.0:0.8868:0.0	.	610	Q6ZW33	MICLK_HUMAN	I	610	ENSP00000256186:M610I	.	M	+	3	0	MICALCL	12332907	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	3.259000	0.51515	2.738000	0.93877	0.655000	0.94253	ATG		0.403	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867	Missense_Mutation	T	12376331	G	T	12376331	5	4	245	1	0	0	0	0	0	0	1	0	9574	1246	43	4	1856	4	MICALCL	11	12376331	Splice_Site	SNP	G	TCGA-B2-4099-01A-02D-1251-10	5791079	12376331	122630185	34	14869											
STAB2	55576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104107496	104107496	+	Missense_Mutation	SNP	G	G	A	rs141685549	byFrequency	TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr12:104107496G>A	ENST00000388887.2	+	42	4691	c.4487G>A	c.(4486-4488)cGa>cAa	p.R1496Q		NM_017564.9	NP_060034.9			stabilin 2									p.R1496Q(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAGGAAGGCGAGTGTGCACG	0.522													G|||	2	0.000399361	0.0	0.0	5008	,	,		21099	0.001		0.001	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	292	264	274		4487	5.2	0.6	12	dbSNP_134	274	0,8600		0,0,4300	no	missense	STAB2	NM_017564.9	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1496/2552	104107496	1,13005	2203	4300	6503	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4487G>A	12.37:g.104107496G>A	ENSP00000373539:p.Arg1496Gln			Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	20.5	3.994734	0.74703	2.27E-4	0.0	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.87256	-2.23	5.18	5.18	0.71444	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.182769	0.45606	D	0.000355	D	0.94922	0.8358	M	0.92555	3.32	0.50632	D	0.999886	D	0.89917	1.0	D	0.91635	0.999	D	0.94139	0.7395	10	0.28530	T	0.3	.	18.7123	0.91662	0.0:0.0:1.0:0.0	.	1496	Q8WWQ8	STAB2_HUMAN	Q	1496;183	ENSP00000373539:R1496Q	ENSP00000258495:R183Q	R	+	2	0	STAB2	102631626	1.000000	0.71417	0.628000	0.29241	0.116000	0.19942	8.678000	0.91211	2.411000	0.81874	0.555000	0.69702	CGA		0.522	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	104107496	G	A	104107496	3	1	245	1	0	0	0	0	1	0	0	0	15243	1058	37	1	4653	1	STAB2	12	104107496	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1251-10		104107496	29744399	35	14870											
SYNE2	23224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64683102	64683102	+	Silent	SNP	C	C	G			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr14:64683102C>G	ENST00000344113.4	+	107	19682	c.19470C>G	c.(19468-19470)ccC>ccG	p.P6490P	SYNE2_ENST00000555002.1_Silent_p.P3147P|SYNE2_ENST00000357395.3_Silent_p.P2875P|SYNE2_ENST00000358025.3_Silent_p.P6513P|SYNE2_ENST00000394768.2_Silent_p.P2875P|SYNE2_ENST00000554805.1_Silent_p.P273P|SYNE2_ENST00000555022.1_Silent_p.P368P|SYNE2_ENST00000441438.2_Silent_p.P21P|SYNE2_ENST00000458046.2_Silent_p.P147P|SYNE2_ENST00000554584.1_Silent_p.P6432P|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6490					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.P6513P(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATAAACCACCCTATGTAAGTC	0.473																																																2	Substitution - coding silent(2)	kidney(2)											112	104	107					14																	64683102		2203	4300	6503	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19470C>G	14.37:g.64683102C>G			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.473	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64683102	C	G	64683102	2	3	245	1	0	0	0	0	0	0	0	1	15451	668	24	4		4	SYNE2	14	64683102	Silent	SNP	C	TCGA-B2-4099-01A-02D-1251-10		64683102	42666438	36	14871											
SYNJ2BP	55333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	70839819	70839819	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr14:70839819A>T	ENST00000256366.4	-	4	408	c.327T>A	c.(325-327)caT>caA	p.H109Q	SYNJ2BP_ENST00000554216.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	109					intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)		p.H109Q(2)		central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTTCACCTCGATGTCCTATAG	0.483																																																2	Substitution - Missense(2)	kidney(2)											134	110	118					14																	70839819		2203	4300	6503	SO:0001583	missense	55333			AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"activin receptor interacting protein 5"	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.327T>A	14.37:g.70839819A>T	ENSP00000256366:p.His109Gln		Q49SH3|Q96IA4	Missense_Mutation	SNP	ENST00000256366.4	37	CCDS9803.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.830210	0.32329	.	.	ENSG00000213463	ENST00000256366	T	0.18657	2.2	5.45	1.88	0.25563	PDZ/DHR/GLGF (1);	0.550372	0.17575	N	0.169334	T	0.14141	0.0342	L	0.57536	1.79	0.29231	N	0.873275	P	0.39665	0.682	B	0.35240	0.198	T	0.14008	-1.0488	10	0.11182	T	0.66	-2.9432	3.3825	0.07260	0.4013:0.2223:0.3764:0.0	.	109	P57105	SYJ2B_HUMAN	Q	109	ENSP00000256366:H109Q	ENSP00000256366:H109Q	H	-	3	2	SYNJ2BP	69909572	1.000000	0.71417	0.632000	0.29296	0.998000	0.95712	0.578000	0.23773	0.209000	0.20645	0.533000	0.62120	CAT		0.483	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		T	70839819	A	T	70839819	3	4	245	1	0	0	0	0	1	0	0	0	15459	330	12	5	114	5	SYNJ2BP	14	70839819	Missense_Mutation	SNP	A	TCGA-B2-4099-01A-02D-1251-10	6156717	70839819	36509721	37	14872											
PTPN21	11099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	88983531	88983531	+	Silent	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr14:88983531C>T	ENST00000556564.1	-	3	539	c.255G>A	c.(253-255)aaG>aaA	p.K85K	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.K85K|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	85	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.K85K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAGCTGCTTCTTCAAAGGTT	0.453																																																2	Substitution - coding silent(2)	kidney(2)											122	114	117					14																	88983531		2203	4300	6503	SO:0001819	synonymous_variant	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.255G>A	14.37:g.88983531C>T				Silent	SNP	ENST00000556564.1	37	CCDS9884.1																																																																																				0.453	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			T	88983531	C	T	88983531	2	4	245	1	0	0	0	0	0	0	0	1	12792	912	32	2		2	PTPN21	14	88983531	Silent	SNP	C	TCGA-B2-4099-01A-02D-1251-10	18143712	88983531	18366009	38	14873											
KIAA0556	23247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27689189	27689189	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr16:27689189G>T	ENST00000261588.4	+	7	699	c.680G>T	c.(679-681)aGa>aTa	p.R227I	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	227						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R227I(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGCCATCCCAGACATGACCGC	0.557																																																4	Substitution - Missense(4)	kidney(4)											65	60	62					16																	27689189		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.680G>T	16.37:g.27689189G>T	ENSP00000261588:p.Arg227Ile		A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	7.441	0.640784	0.14386	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.47869	0.83	5.48	-1.24	0.09435	.	0.579014	0.17405	N	0.175382	T	0.48277	0.1491	L	0.57536	1.79	0.18873	N	0.999989	D;P	0.53151	0.958;0.799	P;B	0.51135	0.66;0.281	T	0.45673	-0.9245	10	0.51188	T	0.08	-3.8208	9.2233	0.37390	0.481:0.0:0.519:0.0	.	135;227	Q8N803;O60303	.;K0556_HUMAN	I	227;134	ENSP00000261588:R227I	ENSP00000261588:R227I	R	+	2	0	KIAA0556	27596690	0.037000	0.19845	0.001000	0.08648	0.002000	0.02628	0.338000	0.19858	-0.165000	0.10908	-0.793000	0.03317	AGA		0.557	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27689189	G	T	27689189	3	4	245	1	0	0	0	0	1	0	0	0	8185	942	33	4	706	4	KIAA0556	16	27689189	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1251-10		27689189	62665564	39	14874											
KIAA0895L	653319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67214015	67214015	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr16:67214015C>T	ENST00000290881.7	-	3	1425	c.499G>A	c.(499-501)Gag>Aag	p.E167K	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.E167K|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.E167K			Q68EN5	K895L_HUMAN	KIAA0895-like	167								p.E167K(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TCCTGGTACTCAAACTGTGGA	0.577																																																2	Substitution - Missense(2)	kidney(2)											109	117	114					16																	67214015		2010	4177	6187	SO:0001583	missense	653319			AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.499G>A	16.37:g.67214015C>T	ENSP00000290881:p.Glu167Lys		A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522689	0.85600	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.92	2.93	0.34026	.	0.102384	0.64402	N	0.000004	T	0.50086	0.1595	L	0.31526	0.94	0.48762	D	0.9997	D;D	0.61697	0.99;0.978	P;P	0.59424	0.857;0.847	T	0.39292	-0.9621	9	0.30854	T	0.27	-16.8564	6.869	0.24111	0.0:0.5643:0.3431:0.0926	.	167;167	Q68EN5-2;Q68EN5	.;K895L_HUMAN	K	167	.	ENSP00000290881:E167K	E	-	1	0	KIAA0895L	65771516	0.998000	0.40836	0.980000	0.43619	0.971000	0.66376	2.645000	0.46621	0.636000	0.30508	0.555000	0.69702	GAG		0.577	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		T	67214015	C	T	67214015	3	4	245	1	0	0	0	0	1	0	0	0	8200	835	29	2	940	2	KIAA0895L	16	67214015	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10	39524826	67214015	23140738	40	14875											
ELMO3	1874	broad.mit.edu;hgsc.bcm.edu	37	16	67235520	67235520	+	IGR	SNP	G	G	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr16:67235520G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Missense_Mutation_p.R334Q|ELMO3_ENST00000477898.1_Missense_Mutation_p.R185Q|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000393997.2_Missense_Mutation_p.R351Q	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R351Q(2)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CCGCGCATGCGGACGCCCCTG	0.587																																																2	Substitution - Missense(2)	kidney(2)											47	53	51					16																	67235520		2075	4223	6298	SO:0001628	intergenic_variant	79767			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67235520G>A			A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	6.903	0.536253	0.13188	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.28666	1.6;1.6	5.31	3.35	0.38373	Engulfment/cell motility, ELMO (1);	0.255518	0.43416	N	0.000564	T	0.13286	0.0322	N	0.13235	0.315	0.43628	D	0.996011	P;P;P	0.39404	0.473;0.672;0.672	B;B;B	0.30495	0.115;0.116;0.116	T	0.09271	-1.0682	10	0.22706	T	0.39	-30.0339	8.404	0.32603	0.24:0.0:0.76:0.0	.	298;334;351	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	Q	334;351	ENSP00000354077:R334Q;ENSP00000377566:R351Q	ENSP00000354077:R334Q	R	+	2	0	ELMO3	65793021	1.000000	0.71417	0.850000	0.33497	0.001000	0.01503	1.321000	0.33678	1.243000	0.43853	-0.258000	0.10820	CGG		0.587	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		A	67235520	G	A	67235520	1	1	245	0	1	0	0	0	0	0	0	0	5069	1116	39	1		1	ELMO3	16	67235520	IGR	SNP	G	TCGA-B2-4099-01A-02D-1251-10	21505	67235520	23119233	41	14876											
FUK	197258	broad.mit.edu	37	16	70508127	70508128	+	In_Frame_Ins	INS	-	-	CCA	rs186275161	byFrequency	TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr16:70508127_70508128insCCA	ENST00000288078.6	+	16	2105_2106	c.1873_1874insCCA	c.(1873-1875)cgg>cCCAgg	p.624_625insP	FUK_ENST00000571514.1_In_Frame_Ins_p.115_116insP|FUK_ENST00000378912.2_In_Frame_Ins_p.656_657insP	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	624						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGGGGGCTTGCGGAGCGGGCCA	0.698																																																0																																										SO:0001652	inframe_insertion	197258				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	Exception_encountered	16.37:g.70508127_70508128insCCA	ENSP00000288078:p.Leu624_Arg625insPro		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	In_Frame_Ins	INS	ENST00000288078.6	37	CCDS10891.2																																																																																				0.698	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		CCA	70508128	-	CCA	70508127	7	5	245	1	0	1	1	0	0	0	0	0	6098	759	27	0	1931	0	FUK	16	70508127	In_Frame_Ins	INS	-	TCGA-B2-4099-01A-02D-1251-10	3272607	70508127	19846626	42	14877											
SMYD4	114826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1703754	1703754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr17:1703754delA	ENST00000305513.7	-	5	1101	c.934delT	c.(934-936)tgcfs	p.C312fs		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	312	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GCATAACTGCATCCGTCACAC	0.547																																																0													137	125	129					17																	1703754		2203	4300	6503	SO:0001589	frameshift_variant	114826			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.934delT	17.37:g.1703754delA	ENSP00000304360:p.Cys312fs		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Frame_Shift_Del	DEL	ENST00000305513.7	37	CCDS11013.1																																																																																				0.547	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		-	1703754	A	-	1703754	7	5	245	1	0	1	0	1	0	0	0	0	14830	217	8	0	1508	0	SMYD4	17	1703754	Frame_Shift_Del	DEL	A	TCGA-B2-4099-01A-02D-1251-10		1703754	79491456	43	14878											
MYH8	4626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10299727	10299727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr17:10299727G>A	ENST00000403437.2	-	33	4667	c.4573C>T	c.(4573-4575)Caa>Taa	p.Q1525*	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1525					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.Q1525*(2)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATGAATTTGCTTTCCTCCC	0.408									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							2	Substitution - Nonsense(2)	kidney(2)											150	134	140					17																	10299727		2203	4300	6503	SO:0001587	stop_gained	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4573C>T	17.37:g.10299727G>A	ENSP00000384330:p.Gln1525*		Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	43	9.922481	0.99297	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.26	5.26	0.73747	.	0.761515	0.10824	U	0.630176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.2401	0.37491	0.0:0.1999:0.6623:0.1378	.	.	.	.	X	1525	.	ENSP00000252173:Q1525X	Q	-	1	0	MYH8	10240452	0.946000	0.32159	1.000000	0.80357	0.939000	0.58152	2.059000	0.41384	2.744000	0.94065	0.650000	0.86243	CAA		0.408	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10299727	G	A	10299727	4	1	245	1	0	0	0	0	0	1	0	0	10043	1328	46	2	1272	2	MYH8	17	10299727	Nonsense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1251-10	8595973	10299727	70895483	44	14879											
HEATR6	63897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	58137396	58137396	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr17:58137396G>C	ENST00000184956.6	-	10	1494	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C	HEATR6_ENST00000585976.1_Missense_Mutation_p.S493C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	493							poly(A) RNA binding (GO:0044822)	p.S493C(2)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTCAGCAACAGAAAGAAACTG	0.433																																																2	Substitution - Missense(2)	kidney(2)											141	138	139					17																	58137396		2203	4300	6503	SO:0001583	missense	63897			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1478C>G	17.37:g.58137396G>C	ENSP00000184956:p.Ser493Cys		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083543	0.55861	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.67345	-0.26	5.68	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.052110	0.85682	D	0.000000	T	0.65852	0.2731	L	0.58101	1.795	0.52099	D	0.999948	B;B	0.22541	0.071;0.009	B;B	0.26202	0.067;0.017	T	0.65327	-0.6195	10	0.54805	T	0.06	-8.888	16.3064	0.82849	0.0:0.1321:0.8679:0.0	.	340;493	E7ESB9;Q6AI08	.;HEAT6_HUMAN	C	493;340	ENSP00000184956:S493C	ENSP00000184956:S493C	S	-	2	0	HEATR6	55492178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.448000	0.80631	1.556000	0.49512	0.558000	0.71614	TCT		0.433	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		C	58137396	G	C	58137396	3	2	245	1	0	0	0	0	1	0	0	0	7035	942	33	4	2111	4	HEATR6	17	58137396	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1251-10	47837669	58137396	23057814	45	14880											
KIF19	124602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72345372	72345372	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr17:72345372G>T	ENST00000389916.4	+	10	1235	c.1097G>T	c.(1096-1098)aGc>aTc	p.S366I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	366					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.S366I(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGTACACCAGCATCATCGCT	0.637																																																2	Substitution - Missense(2)	kidney(2)											80	68	72					17																	72345372		2203	4300	6503	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1097G>T	17.37:g.72345372G>T	ENSP00000374566:p.Ser366Ile		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828382	0.32329	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.72942	-0.7;-0.7	5.9	-2.07	0.07276	.	.	.	.	.	T	0.66076	0.2753	M	0.61703	1.905	0.09310	N	0.999999	P;P;P;P	0.48016	0.904;0.828;0.708;0.708	B;B;B;B	0.43386	0.418;0.354;0.35;0.188	T	0.59674	-0.7410	9	0.37606	T	0.19	.	11.1295	0.48339	0.4522:0.0:0.5477:0.0	.	366;324;324;366	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	I	324;366	ENSP00000449134:S324I;ENSP00000374566:S366I	ENSP00000374566:S366I	S	+	2	0	KIF19	69856967	1.000000	0.71417	0.000000	0.03702	0.068000	0.16541	2.130000	0.42064	-0.268000	0.09312	-0.265000	0.10407	AGC		0.637	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		T	72345372	G	T	72345372	3	4	245	1	0	0	0	0	1	0	0	0	8284	971	34	4	1135	4	KIF19	17	72345372	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1251-10	14207976	72345372	8849838	46	14881											
ACSBG2	81616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6183057	6183057	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr19:6183057A>C	ENST00000586696.1	+	10	1372	c.1096A>C	c.(1096-1098)Aat>Cat	p.N366H	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.N366H|ACSBG2_ENST00000588304.1_Missense_Mutation_p.N316H|ACSBG2_ENST00000591403.1_Missense_Mutation_p.N366H|ACSBG2_ENST00000588485.1_Missense_Mutation_p.N179H			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	366					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.N366H(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGAAATATAATACTCCCGT	0.522																																																2	Substitution - Missense(2)	kidney(2)											79	76	77					19																	6183057		2203	4300	6503	SO:0001583	missense	81616				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1096A>C	19.37:g.6183057A>C	ENSP00000465589:p.Asn366His		B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	A	8.146	0.786328	0.16189	.	.	ENSG00000130377	ENST00000252669	T	0.16597	2.33	5.06	2.9	0.33743	AMP-dependent synthetase/ligase (1);	0.811538	0.10389	N	0.680645	T	0.10035	0.0246	N	0.13299	0.325	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.01	T	0.25572	-1.0128	10	0.45353	T	0.12	-26.2533	6.0339	0.19694	0.1776:0.1533:0.6691:0.0	.	366;366	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	H	366	ENSP00000252669:N366H	ENSP00000252669:N366H	N	+	1	0	ACSBG2	6134057	0.001000	0.12720	0.009000	0.14445	0.002000	0.02628	0.633000	0.24598	1.091000	0.41335	-0.248000	0.11899	AAT		0.522	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		C	6183057	A	C	6183057	3	2	245	1	0	0	0	0	1	0	0	0	174	362	13	5	1130	5	ACSBG2	19	6183057	Missense_Mutation	SNP	A	TCGA-B2-4099-01A-02D-1251-10		6183057	52945926	47	14882											
DNM2	1785	broad.mit.edu	37	19	10935788	10935788	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr19:10935788A>G	ENST00000355667.6	+	18	2029	c.1949A>G	c.(1948-1950)gAg>gGg	p.E650G	DNM2_ENST00000408974.4_Missense_Mutation_p.E646G|DNM2_ENST00000389253.4_Missense_Mutation_p.E650G|DNM2_ENST00000314646.5_Missense_Mutation_p.E650G|DNM2_ENST00000359692.6_Missense_Mutation_p.E646G|DNM2_ENST00000585892.1_Missense_Mutation_p.E650G	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	650			E -> K (in CNM1; COS7 cells show a reduced uptake of transferrin and low- density lipoprotein complex). {ECO:0000269|PubMed:19623537}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.E646G(1)|p.E650G(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCCAACTGGAGCGGCAGGTG	0.602			"F, N, Splice, Mis, O"		ETP ALL																																		Rec	yes		19	19p13.2	1785	dynamin 2		L	2	Substitution - Missense(2)	kidney(2)											105	94	98					19																	10935788		2203	4300	6503	SO:0001583	missense	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1949A>G	19.37:g.10935788A>G	ENSP00000347890:p.Glu650Gly		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.366467	0.61513	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	T;T;T;T	0.57595	0.44;0.39;0.44;0.44	5.27	4.24	0.50183	Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	T	0.75946	0.3919	M	0.91972	3.26	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.998;0.999;1.0;0.991	D;D;D;D;D;D;P	0.83275	0.996;0.991;0.989;0.994;0.959;0.994;0.904	T	0.79090	-0.1946	10	0.87932	D	0	-4.4441	10.5737	0.45214	0.8551:0.0:0.0:0.1449	.	244;650;379;646;646;650;650	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	G	646;646;650;650;650;257	ENSP00000386192:E646G;ENSP00000352721:E650G;ENSP00000373905:E650G;ENSP00000313164:E650G	ENSP00000313164:E650G	E	+	2	0	DNM2	10796788	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	9.204000	0.95041	0.823000	0.34589	-0.490000	0.04691	GAG		0.602	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		G	10935788	A	G	10935788	3	3	245	1	0	0	0	0	1	0	0	0	4674	304	11	3	2162	3	DNM2	19	10935788	Missense_Mutation	SNP	A	TCGA-B2-4099-01A-02D-1251-10	4752731	10935788	48193195	48	14883											
ZNF564	163050	hgsc.bcm.edu	37	19	12637738	12637739	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr19:12637738_12637739insAA	ENST00000339282.7	-	4	1379_1380	c.1183_1184insTT	c.(1183-1185)tgtfs	p.C395fs	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ACATACCTGACATTTATAAGGT	0.436																																																0																																										SO:0001589	frameshift_variant	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1183_1184insTT	19.37:g.12637738_12637739insAA	ENSP00000340004:p.Cys395fs		B9EGT4|Q6P1K6	Frame_Shift_Ins	INS	ENST00000339282.7	37	CCDS42505.1																																																																																				0.436	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		AA	12637739	-	AA	12637738	7	5	245	1	0	1	1	0	0	0	0	0	18000	478	17	0	481	0	ZNF564	19	12637738	Frame_Shift_Ins	INS	-	TCGA-B2-4099-01A-02D-1251-10	1701950	12637738	46491245	49	14884											
WDR62	284403	hgsc.bcm.edu;ucsc.edu	37	19	36593730	36593730	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr19:36593730delC	ENST00000270301.7	+	27	3297	c.3297delC	c.(3295-3297)ctcfs	p.L1099fs	WDR62_ENST00000401500.2_Frame_Shift_Del_p.L1104fs			O43379	WDR62_HUMAN	WD repeat domain 62	1099					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCAGTTCCTCTCAAGCCTCC	0.592																																																0													94	74	81					19																	36593730		2203	4300	6503	SO:0001589	frameshift_variant	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3297delC	19.37:g.36593730delC	ENSP00000270301:p.Leu1099fs		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Frame_Shift_Del	DEL	ENST00000270301.7	37	CCDS33001.1																																																																																				0.592	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		-	36593730	C	-	36593730	7	5	245	1	0	1	0	1	0	0	0	0	17318	900	32	0	3418	0	WDR62	19	36593730	Frame_Shift_Del	DEL	C	TCGA-B2-4099-01A-02D-1251-10	23955992	36593730	22535253	50	14885	117	2									
WDR62	284403	hgsc.bcm.edu;ucsc.edu	37	19	36593732	36593733	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr19:36593732_36593733delCA	ENST00000270301.7	+	27	3299_3300	c.3299_3300delCA	c.(3298-3300)tcafs	p.S1101fs	WDR62_ENST00000401500.2_Frame_Shift_Del_p.S1106fs			O43379	WDR62_HUMAN	WD repeat domain 62	1101					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGTTCCTCTCAAGCCTCCAGA	0.599																																																0																																										SO:0001589	frameshift_variant	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3299_3300delCA	19.37:g.36593732_36593733delCA	ENSP00000270301:p.Ser1101fs		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Frame_Shift_Del	DEL	ENST00000270301.7	37	CCDS33001.1																																																																																				0.599	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		-	36593733	CA	-	36593732	7	5	245	1	0	1	0	1	0	0	0	0	17318	838	29	0	3420	0	WDR62	19	36593732	Frame_Shift_Del	DEL	CA	TCGA-B2-4099-01A-02D-1251-10	2	36593732	22535251	51	14886	117	2									
HKR1	284459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37854193	37854193	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr19:37854193G>A	ENST00000324411.4	+	6	1765	c.1496G>A	c.(1495-1497)tGt>tAt	p.C499Y	HKR1_ENST00000541583.2_Missense_Mutation_p.C438Y|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Missense_Mutation_p.C226Y|HKR1_ENST00000591471.1_Missense_Mutation_p.C226Y|HKR1_ENST00000589392.1_Missense_Mutation_p.C481Y|HKR1_ENST00000392153.3_Missense_Mutation_p.C480Y	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	499					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C499Y(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCATTTGTATGTACGGAGTGT	0.527																																																2	Substitution - Missense(2)	kidney(2)											84	81	82					19																	37854193		2203	4300	6503	SO:0001583	missense	284459			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1496G>A	19.37:g.37854193G>A	ENSP00000315505:p.Cys499Tyr		A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.910115	0.33721	.	.	ENSG00000181666	ENST00000544914;ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94384	0.8194	H	0.96691	3.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95583	0.8648	9	0.87932	D	0	.	13.0235	0.58802	0.0:0.0:1.0:0.0	.	438;480;499;481	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	Y	226;278;480;535;499;438	ENSP00000437774:C226Y;ENSP00000375994:C480Y;ENSP00000315505:C499Y;ENSP00000438261:C438Y	ENSP00000315505:C499Y	C	+	2	0	HKR1	42546033	1.000000	0.71417	0.048000	0.18961	0.143000	0.21401	4.076000	0.57591	1.756000	0.51951	0.650000	0.86243	TGT		0.527	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		A	37854193	G	A	37854193	3	1	245	1	0	0	0	0	1	0	0	0	7196	1377	48	2	1510	2	HKR1	19	37854193	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1251-10	1260461	37854193	21274790	52	14887											
ZNF227	7770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44740521	44740521	+	Silent	SNP	T	T	C			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr19:44740521T>C	ENST00000313040.7	+	6	2143	c.1938T>C	c.(1936-1938)ggT>ggC	p.G646G	ZNF227_ENST00000589005.1_Silent_p.G595G|ZNF227_ENST00000391961.2_Silent_p.G595G|ZNF235_ENST00000589799.1_3'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G646G(2)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AGTCCTCTGGTCTTCAATCCC	0.463																																																2	Substitution - coding silent(2)	kidney(2)											64	65	65					19																	44740521		2203	4300	6503	SO:0001819	synonymous_variant	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1938T>C	19.37:g.44740521T>C			B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	CCDS12636.1																																																																																				0.463	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		C	44740521	T	C	44740521	2	2	245	1	0	0	0	0	0	0	0	1	17786	1654	58	3		3	ZNF227	19	44740521	Silent	SNP	T	TCGA-B2-4099-01A-02D-1251-10	6886328	44740521	14388462	53	14888											
GLTSCR2	29997	broad.mit.edu	37	19	48258011	48258011	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr19:48258011G>A	ENST00000246802.5	+	8	954	c.916G>A	c.(916-918)Gat>Aat	p.D306N	SNORD23_ENST00000408876.1_RNA|CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	306						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.D306N(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GGAGGAGTCGGATGGTGAGGG	0.716																																					Colon(58;613 1041 9473 10089 15241)											1	Substitution - Missense(1)	kidney(1)											9	14	13					19																	48258011		2047	4024	6071	SO:0001583	missense	29997			AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.916G>A	19.37:g.48258011G>A	ENSP00000246802:p.Asp306Asn		Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670948	0.88348	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.51817	0.69	3.63	3.63	0.41609	.	0.187320	0.44285	D	0.000473	T	0.63546	0.2520	M	0.70595	2.14	0.35094	D	0.764561	D;P;P	0.71674	0.998;0.822;0.822	D;P;P	0.69824	0.966;0.562;0.506	T	0.73956	-0.3819	10	0.56958	D	0.05	-12.8777	10.9677	0.47422	0.0:0.0:1.0:0.0	.	306;306;304	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	N	306	ENSP00000246802:D306N	ENSP00000246802:D306N	D	+	1	0	GLTSCR2	52949823	0.982000	0.34865	0.273000	0.24645	0.465000	0.32709	5.655000	0.67981	2.011000	0.59026	0.411000	0.27672	GAT		0.716	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		A	48258011	G	A	48258011	3	1	245	1	0	0	0	0	1	0	0	0	6477	1174	41	2	946	2	GLTSCR2	19	48258011	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1251-10	3517490	48258011	10870972	54	14889											
KLK14	43847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51585845	51585845	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr19:51585845T>G	ENST00000156499.2	-	3	293	c.75A>C	c.(73-75)caA>caC	p.Q25H	KLK14_ENST00000391802.1_Missense_Mutation_p.Q25H			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	25					epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.Q25H(2)|p.Q9H(2)		kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		TAGCCAGGACTTGAAGTGCTG	0.542																																					GBM(117;2161 2172 2448 22911)											4	Substitution - Missense(4)	kidney(4)											93	93	93					19																	51585845		1907	4117	6024	SO:0001583	missense	43847			AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"Kallikreins"	6362	protein-coding gene	gene with protein product		606135	"kallikrein 14"			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.75A>C	19.37:g.51585845T>G	ENSP00000156499:p.Gln25His		A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	ENST00000156499.2	37	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	4.595	0.110625	0.08780	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.92805	-3.11;-3.11	4.88	-3.62	0.04543	.	.	.	.	.	T	0.76118	0.3943	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.64257	-0.6450	9	0.14656	T	0.56	.	2.4392	0.04490	0.1402:0.3795:0.3187:0.1616	.	25	Q9P0G3	KLK14_HUMAN	H	25	ENSP00000156499:Q25H;ENSP00000375678:Q25H	ENSP00000156499:Q25H	Q	-	3	2	KLK14	56277657	0.961000	0.32948	0.016000	0.15963	0.088000	0.18126	0.064000	0.14437	-0.317000	0.08677	0.451000	0.29950	CAA		0.542	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046		G	51585845	T	G	51585845	3	3	245	1	0	0	0	0	1	0	0	0	8404	1606	56	5	748	5	KLK14	19	51585845	Missense_Mutation	SNP	T	TCGA-B2-4099-01A-02D-1251-10	3327834	51585845	7543138	55	14890											
REM1	28954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30064350	30064350	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr20:30064350C>G	ENST00000201979.2	+	2	395	c.102C>G	c.(100-102)agC>agG	p.S34R	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	34					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.S34R(2)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCGCCTGAGCACAGTGCCTT	0.642																																																2	Substitution - Missense(2)	kidney(2)											79	87	84					20																	30064350		2203	4300	6503	SO:0001583	missense	28954			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.102C>G	20.37:g.30064350C>G	ENSP00000201979:p.Ser34Arg		E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	7.115	0.576816	0.13686	.	.	ENSG00000088320	ENST00000201979	T	0.65549	-0.16	4.55	1.49	0.22878	.	0.485483	0.18972	N	0.126101	T	0.32526	0.0832	N	0.08118	0	0.21861	N	0.999508	B	0.02656	0.0	B	0.04013	0.001	T	0.13522	-1.0506	10	0.15066	T	0.55	.	4.4206	0.11479	0.0:0.6092:0.1863:0.2046	.	34	O75628	REM1_HUMAN	R	34	ENSP00000201979:S34R	ENSP00000201979:S34R	S	+	3	2	REM1	29528011	0.086000	0.21541	0.700000	0.30305	0.923000	0.55619	0.200000	0.17257	0.159000	0.19401	0.655000	0.94253	AGC		0.642	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		G	30064350	C	G	30064350	3	3	245	1	0	0	0	0	1	0	0	0	13228	709	25	4	104	4	REM1	20	30064350	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10		30064350	32961170	56	14891											
RFPL2	10739	broad.mit.edu;hgsc.bcm.edu	37	22	32587083	32587083	+	Silent	SNP	G	G	C			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chr22:32587083G>C	ENST00000400237.1	-	5	1748	c.813C>G	c.(811-813)acC>acG	p.T271T	RFPL2_ENST00000400236.3_Silent_p.T181T|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Silent_p.T181T|RFPL2_ENST00000248980.4_Silent_p.T210T			O75678	RFPL2_HUMAN	ret finger protein-like 2	271	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.T210T(2)|p.T181T(2)|p.T271T(2)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CAAGCTCTGTGGTCAGCTGGA	0.587																																																6	Substitution - coding silent(6)	kidney(6)											105	105	105					22																	32587083		2203	4300	6503	SO:0001819	synonymous_variant	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.813C>G	22.37:g.32587083G>C				Silent	SNP	ENST00000400237.1	37	CCDS43009.2																																																																																				0.587	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		C	32587083	G	C	32587083	2	2	245	1	0	0	0	0	0	0	0	1	13260	1335	47	4		4	RFPL2	22	32587083	Silent	SNP	G	TCGA-B2-4099-01A-02D-1251-10		32587083	18717483	57	14892											
NHS	4810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	17746842	17746842	+	Silent	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chrX:17746842C>T	ENST00000380060.3	+	7	4571	c.4233C>T	c.(4231-4233)ttC>ttT	p.F1411F	NHS_ENST00000398097.3_Silent_p.F1255F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1432					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.F1411F(2)|p.F1255F(2)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGGGTGTGTTCGTGTCTCCAA	0.418													C|||	1	0.000264901	0.0	0.0	3775	,	,		13319	0.0		0.0	False		,,,				2504	0.001															4	Substitution - coding silent(4)	kidney(4)											96	86	89					X																	17746842		2203	4300	6503	SO:0001819	synonymous_variant	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4233C>T	X.37:g.17746842C>T			B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	CCDS14181.1																																																																																				0.418	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		T	17746842	C	T	17746842	2	4	245	1	0	0	0	0	0	0	0	1	10413	883	31	1		1	NHS	23	17746842	Silent	SNP	C	TCGA-B2-4099-01A-02D-1251-10		17746842	137523718	58	14893											
ARX	170302	broad.mit.edu	37	X	25022841	25022841	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chrX:25022841C>A	ENST00000379044.4	-	5	1845	c.1635G>T	c.(1633-1635)caG>caT	p.Q545H		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	545					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.Q545H(1)		kidney(1)|large_intestine(2)|lung(1)	4						GCTGCGTGAGCTGCGCCGCGT	0.721																																																1	Substitution - Missense(1)	kidney(1)											6	7	7					X																	25022841		1977	3754	5731	SO:0001583	missense	170302			AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"Homeoboxes / PRD class"	18060	protein-coding gene	gene with protein product	"cancer/testis antigen 121"	300382	"mental retardation, X-linked 54", "mental retardation, X-linked 43", "mental retardation, X-linked 36", "mental retardation, X-linked 29", "mental retardation, X-linked 32", "mental retardation, X-linked 33", "mental retardation, X-linked 38", "mental retardation, X-linked 87", "mental retardation, X-linked 76"	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.1635G>T	X.37:g.25022841C>A	ENSP00000368332:p.Gln545His			Missense_Mutation	SNP	ENST00000379044.4	37	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	c	15.92	2.974300	0.53720	.	.	ENSG00000004848	ENST00000379044	D	0.91843	-2.92	4.13	2.26	0.28386	.	0.070363	0.64402	N	0.000020	D	0.88016	0.6324	L	0.56769	1.78	0.45883	D	0.998738	B	0.13145	0.007	B	0.15484	0.013	T	0.82218	-0.0566	10	0.40728	T	0.16	.	7.8786	0.29608	0.1584:0.75:0.0:0.0917	.	545	Q96QS3	ARX_HUMAN	H	545	ENSP00000368332:Q545H	ENSP00000368332:Q545H	Q	-	3	2	ARX	24932762	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.612000	0.46343	0.729000	0.32403	0.431000	0.28591	CAG		0.721	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1			A	25022841	C	A	25022841	3	1	245	1	0	0	0	0	1	0	0	0	1004	796	28	4	57	4	ARX	23	25022841	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10	7275999	25022841	130247719	59	14894											
DMD	1756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	31196785	31196785	+	Splice_Site	SNP	C	C	A	rs398123834		TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chrX:31196785C>A	ENST00000357033.4	-	70	10430		c.e70+1		DMD_ENST00000541735.1_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000378723.3_Splice_Site|DMD_ENST00000359836.1_Splice_Site|DMD_ENST00000378680.2_Splice_Site|DMD_ENST00000378702.4_Splice_Site|DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000361471.4_Splice_Site|DMD_ENST00000343523.2_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.?(12)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTACTACTCACGTTTCCATGT	0.438																																																12	Unknown(12)	kidney(12)	GRCh37	CS930792|CS971710	DMD	S							215	165	182					X																	31196785		2202	4300	6502	SO:0001630	splice_region_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10223+1G>T	X.37:g.31196785C>A			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120796	0.77436	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000465285;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7154	0.88335	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMD	31106706	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.254000	0.78329	2.458000	0.83093	0.600000	0.82982	.		0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Intron	A	31196785	C	A	31196785	5	1	245	1	0	0	0	0	0	0	1	0	4582	550	19	4	963	4	DMD	23	31196785	Splice_Site	SNP	C	TCGA-B2-4099-01A-02D-1251-10	6173944	31196785	124073775	60	14895											
SLC35A2	7355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48762340	48762340	+	Silent	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chrX:48762340C>T	ENST00000247138.5	-	4	849	c.846G>A	c.(844-846)ggG>ggA	p.G282G	SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000452555.2_Silent_p.G310G|SLC35A2_ENST00000413561.2_Silent_p.G221G|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000376521.1_Silent_p.G282G|SLC35A2_ENST00000445167.2_Intron	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	282					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)	p.G282G(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CCACCAGTAGCCCGCCGAAGG	0.597																																																2	Substitution - coding silent(2)	kidney(2)											43	33	36					X																	48762340		2203	4300	6503	SO:0001819	synonymous_variant	7355			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"Solute carriers"	11022	protein-coding gene	gene with protein product		314375	"solute carrier family 35 (UDP-galactose transporter), member 2"	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.846G>A	X.37:g.48762340C>T			A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Silent	SNP	ENST00000247138.5	37	CCDS14311.1																																																																																				0.597	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		T	48762340	C	T	48762340	2	4	245	1	0	0	0	0	0	0	0	1	14577	726	26	2		2	SLC35A2	23	48762340	Silent	SNP	C	TCGA-B2-4099-01A-02D-1251-10	17565555	48762340	106508220	61	14896											
VSIG4	11326	broad.mit.edu;ucsc.edu	37	X	65252420	65252420	+	Missense_Mutation	SNP	G	G	A	rs139911916		TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chrX:65252420G>A	ENST00000374737.4	-	3	692	c.584C>T	c.(583-585)aCc>aTc	p.T195I	VSIG4_ENST00000455586.2_Missense_Mutation_p.T195I|VSIG4_ENST00000412866.2_Intron	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	195	Ig-like 2.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T195I(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAGAGTAAGGTACTTAGGGT	0.498																																																2	Substitution - Missense(2)	kidney(2)											194	162	173					X																	65252420		2203	4300	6503	SO:0001583	missense	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.584C>T	X.37:g.65252420G>A	ENSP00000363869:p.Thr195Ile		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	G	7.342	0.621183	0.14193	.	.	ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000423830	T;T;T	0.03717	3.83;3.83;3.83	4.04	-1.63	0.08345	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.727143	0.12251	N	0.485577	T	0.08403	0.0209	L	0.58810	1.83	0.09310	N	1	P;P;D;D	0.61080	0.784;0.901;0.985;0.989	P;P;D;P	0.67382	0.496;0.702;0.951;0.878	T	0.23976	-1.0173	10	0.44086	T	0.13	-0.7344	0.43	0.00469	0.2162:0.1612:0.2908:0.3319	.	195;118;185;195	Q9Y279-2;C9JTJ4;C9JH67;Q9Y279	.;.;.;VSIG4_HUMAN	I	195;195;118	ENSP00000363869:T195I;ENSP00000411581:T195I;ENSP00000414594:T118I	ENSP00000363869:T195I	T	-	2	0	VSIG4	65169145	0.049000	0.20398	0.001000	0.08648	0.014000	0.08584	0.450000	0.21762	-0.544000	0.06232	-1.006000	0.02489	ACC		0.498	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		A	65252420	G	A	65252420	3	1	245	1	0	0	0	0	1	0	0	0	17230	1261	44	2	643	2	VSIG4	23	65252420	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1251-10	16490080	65252420	90018140	62	14897											
DCAF12L1	139170	broad.mit.edu;hgsc.bcm.edu	37	X	125685459	125685459	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4099-01A-02D-1251-10	TCGA-B2-4099-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ce82bf89-dc70-44a3-b708-8baf21fbcc47	ef7262e7-c3e5-4d51-b410-aafd62940610	g.chrX:125685459C>T	ENST00000371126.1	-	1	1375	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	378								p.R378Q(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTTCTGGGCCCGGACGTCATA	0.627																																																2	Substitution - Missense(2)	kidney(2)											41	43	43					X																	125685459		2203	4300	6503	SO:0001583	missense	139170			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1133G>A	X.37:g.125685459C>T	ENSP00000360167:p.Arg378Gln		Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500277	0.44455	.	.	ENSG00000198889	ENST00000371126	T	0.63580	-0.05	3.64	1.85	0.25348	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36409	N	0.002610	T	0.75744	0.3891	M	0.83384	2.64	0.29129	N	0.879739	D	0.89917	1.0	D	0.80764	0.994	T	0.68868	-0.5295	10	0.66056	D	0.02	.	7.322	0.26533	0.0:0.7654:0.0:0.2346	.	378	Q5VU92	DC121_HUMAN	Q	378	ENSP00000360167:R378Q	ENSP00000360167:R378Q	R	-	2	0	DCAF12L1	125513140	1.000000	0.71417	0.000000	0.03702	0.097000	0.18754	6.225000	0.72271	0.379000	0.24794	0.429000	0.28392	CGG		0.627	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		T	125685459	C	T	125685459	3	4	245	1	0	0	0	0	1	0	0	0	4266	652	23	1	262	1	DCAF12L1	23	125685459	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1251-10	60433039	125685459	29585101	63	14898											
LRRC7	57554	broad.mit.edu	37	1	70502282	70502282	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr1:70502282G>C	ENST00000035383.5	+	18	2179	c.2149G>C	c.(2149-2151)Gta>Cta	p.V717L	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000310961.5_Missense_Mutation_p.V722L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	717						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.V717L(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAAAGATGCAGTACATAATTC	0.423																																																2	Substitution - Missense(2)	kidney(2)											141	153	149					1																	70502282		2203	4300	6503	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2149G>C	1.37:g.70502282G>C	ENSP00000035383:p.Val717Leu		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718215	0.48622	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.36699	1.24;1.31	5.77	5.77	0.91146	.	0.457883	0.21756	N	0.069590	T	0.22820	0.0551	L	0.44542	1.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01500	-1.1339	10	0.38643	T	0.18	.	19.335	0.94312	0.0:0.0:1.0:0.0	.	717	Q96NW7	LRRC7_HUMAN	L	722;717;540	ENSP00000309245:V722L;ENSP00000035383:V717L	ENSP00000035383:V717L	V	+	1	0	LRRC7	70274870	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.680000	0.61656	2.890000	0.99128	0.650000	0.86243	GTA		0.423	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		C	70502282	G	C	70502282	3	2	246	1	0	0	0	0	1	0	0	0	9022	1029	36	4	2219	4	LRRC7	1	70502282	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1458-08		70502282	178748339	1	14899											
LASS2	29956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150939585	150939585	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr1:150939585T>C	ENST00000271688.6	-	8	1092	c.706A>G	c.(706-708)Atg>Gtg	p.M236V	CERS2_ENST00000561294.1_Missense_Mutation_p.M227V|CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Missense_Mutation_p.M236V	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	236	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.M236V(2)									TGCAGAGCCATGATTAGAGTC	0.488																																																2	Substitution - Missense(2)	kidney(2)											97	93	95					1																	150939585		2203	4300	6503	SO:0001583	missense	0			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.706A>G	1.37:g.150939585T>C	ENSP00000271688:p.Met236Val		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	CCDS973.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096317	0.56075	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000345896;ENST00000368949;ENST00000361419	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.42	5.42	0.78866	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	M	0.82323	2.585	0.80722	D	1	P	0.38148	0.62	B	0.36378	0.223	D	0.86292	0.1674	10	0.87932	D	0	-25.1355	15.1277	0.72494	0.0:0.0:0.0:1.0	.	236	Q96G23	CERS2_HUMAN	V	236;236;86;256;236	ENSP00000357950:M236V;ENSP00000271688:M236V;ENSP00000337842:M86V;ENSP00000357945:M256V;ENSP00000355020:M236V	ENSP00000271688:M236V	M	-	1	0	CERS2	149206209	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.980000	0.56895	2.058000	0.61347	0.533000	0.62120	ATG		0.488	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		C	150939585	T	C	150939585	3	2	246	1	0	0	0	0	1	0	0	0	8641	1464	51	3	452	3	LASS2	1	150939585	Missense_Mutation	SNP	T	TCGA-B2-4099-01A-02D-1458-08	80437303	150939585	98311036	2	14900											
ZNF238	10472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	244218338	244218338	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr1:244218338G>T	ENST00000358704.4	+	2	1411	c.1262G>T	c.(1261-1263)tGc>tTc	p.C421F		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	412	Interaction with DNMT3A.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C412F(2)									GTGCCCACGTGCTCGCTGTGT	0.632																																																2	Substitution - Missense(2)	kidney(2)											61	62	62					1																	244218338		2203	4300	6503	SO:0001583	missense	0			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1262G>T	1.37:g.244218338G>T	ENSP00000351539:p.Cys421Phe		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399627	0.62177	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	D	0.85411	-1.98	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.78314	0.979;0.991	D	0.89992	0.4108	10	0.87932	D	0	.	20.1379	0.98040	0.0:0.0:1.0:0.0	.	412;421	Q99592;Q99592-2	ZN238_HUMAN;.	F	421	ENSP00000351539:C421F	ENSP00000351539:C421F	C	+	2	0	ZNF238	242284961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.779000	0.95612	0.655000	0.94253	TGC		0.632	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		T	244218338	G	T	244218338	3	4	246	1	0	0	0	0	1	0	0	0	17795	1319	46	4	1268	4	ZNF238	1	244218338	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1458-08	93278753	244218338	5032283	3	14901											
DNAH7	56171	broad.mit.edu;hgsc.bcm.edu	37	2	196723250	196723250	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr2:196723250G>T	ENST00000312428.6	-	43	8115	c.8015C>A	c.(8014-8016)gCc>gAc	p.A2672D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2672	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.A2672D(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATTGGCAAGGCACCTGCCAG	0.453																																																2	Substitution - Missense(2)	kidney(2)											78	74	76					2																	196723250		1970	4159	6129	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8015C>A	2.37:g.196723250G>T	ENSP00000311273:p.Ala2672Asp		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725919	0.69074	.	.	ENSG00000118997	ENST00000312428	T	0.80653	-1.4	5.64	5.64	0.86602	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	H	0.99668	4.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96858	0.9630	10	0.87932	D	0	.	19.4873	0.95035	0.0:0.0:1.0:0.0	.	2672	Q8WXX0	DYH7_HUMAN	D	2672	ENSP00000311273:A2672D	ENSP00000311273:A2672D	A	-	2	0	DNAH7	196431495	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	9.544000	0.98092	2.937000	0.99478	0.650000	0.86243	GCC		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		T	196723250	G	T	196723250	3	4	246	1	0	0	0	0	1	0	0	0	4608	1203	42	4	4151	4	DNAH7	2	196723250	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1458-08		196723250	46476123	4	14902											
KIF1A	547	broad.mit.edu	37	2	241660401	241660401	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr2:241660401C>A	ENST00000320389.7	-	43	4653	c.4495G>T	c.(4495-4497)Gtg>Ttg	p.V1499L	KIF1A_ENST00000498729.2_Missense_Mutation_p.V1600L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1499					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.V1499L(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGAGTGGCCACCCCTAGAGGG	0.647																																																1	Substitution - Missense(1)	kidney(1)											21	27	25					2																	241660401		2000	4165	6165	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4495G>T	2.37:g.241660401C>A	ENSP00000322791:p.Val1499Leu		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	7.745	0.702152	0.15172	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.71341	-0.48;-0.56	4.02	2.17	0.27698	.	0.403999	0.22033	U	0.065565	T	0.52980	0.1768	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.33752	-0.9856	10	0.23891	T	0.37	.	8.1737	0.31270	0.0:0.7492:0.1603:0.0904	.	1600;1499	F5H045;Q12756	.;KIF1A_HUMAN	L	1499;1600;1608	ENSP00000322791:V1499L;ENSP00000438388:V1600L	ENSP00000322791:V1499L	V	-	1	0	KIF1A	241309074	0.000000	0.05858	0.346000	0.25655	0.642000	0.38348	-0.005000	0.12855	0.681000	0.31386	-0.150000	0.13652	GTG		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		A	241660401	C	A	241660401	3	1	246	1	0	0	0	0	1	0	0	0	8285	507	18	4	597	4	KIF1A	2	241660401	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1458-08	44937151	241660401	1538972	5	14903											
GLYCTK	132158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52324497	52324497	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr3:52324497G>A	ENST00000436784.2	+	2	199	c.139G>A	c.(139-141)Ggt>Agt	p.G47S	GLYCTK_ENST00000477382.1_Missense_Mutation_p.G47S|GLYCTK_ENST00000354773.4_Missense_Mutation_p.G47S|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000473032.1_Missense_Mutation_p.G47S|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000305690.8_Missense_Mutation_p.G47S			Q8IVS8	GLCTK_HUMAN	glycerate kinase	47					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)	p.G47S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GAGTGCTGTAGGTGCAGTGCT	0.642																																																1	Substitution - Missense(1)	kidney(1)											31	30	30					3																	52324497		2203	4300	6503	SO:0001583	missense	132158				CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.139G>A	3.37:g.52324497G>A	ENSP00000389175:p.Gly47Ser		Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571865	0.28003	.	.	ENSG00000168237	ENST00000473032;ENST00000305690;ENST00000354773;ENST00000436784;ENST00000477382;ENST00000411757	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.4	3.44	0.39384	.	0.220732	0.47852	D	0.000201	T	0.16471	0.0396	N	0.04508	-0.205	0.34918	D	0.748133	P;B;B	0.51933	0.949;0.066;0.014	B;B;B	0.42495	0.389;0.018;0.038	T	0.10200	-1.0640	10	0.10111	T	0.7	-7.8395	5.9756	0.19377	0.074:0.1335:0.6546:0.1379	.	47;47;47	Q8IVS8-2;Q8IVS8-4;Q8IVS8	.;.;GLCTK_HUMAN	S	47	ENSP00000418951:G47S;ENSP00000301965:G47S;ENSP00000346825:G47S;ENSP00000389175:G47S;ENSP00000419008:G47S	ENSP00000301965:G47S	G	+	1	0	GLYCTK	52299537	1.000000	0.71417	0.989000	0.46669	0.669000	0.39330	1.605000	0.36815	2.527000	0.85204	0.643000	0.83706	GGT		0.642	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		A	52324497	G	A	52324497	3	1	246	1	0	0	0	0	1	0	0	0	6484	1000	35	2	141	2	GLYCTK	3	52324497	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1458-08		52324497	145697933	6	14904											
PF4	5196	broad.mit.edu	37	4	74847209	74847209	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr4:74847209G>A	ENST00000296029.3	-	2	313	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	48					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)	p.S48F(1)		kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	ACGGACCTGGGAGGTGGTCTT	0.602																																																1	Substitution - Missense(1)	kidney(1)											68	62	64					4																	74847209		2203	4296	6499	SO:0001583	missense	5196			M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"chemokine (C-X-C motif) ligand 4"	173460	"platelet factor 4"			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.143C>T	4.37:g.74847209G>A	ENSP00000296029:p.Ser48Phe		Q53X61|Q9UC64|Q9UC65	Missense_Mutation	SNP	ENST00000296029.3	37	CCDS3562.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500403	0.64298	.	.	ENSG00000163737	ENST00000296029	T	0.06068	3.35	2.63	1.63	0.23807	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.576564	0.18332	N	0.144449	T	0.24470	0.0593	M	0.89904	3.07	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.01795	-1.1272	10	0.87932	D	0	.	5.9293	0.19130	0.0:0.0:0.69:0.31	.	48	P02776	PLF4_HUMAN	F	48	ENSP00000296029:S48F	ENSP00000296029:S48F	S	-	2	0	PF4	75066073	0.001000	0.12720	0.002000	0.10522	0.978000	0.69477	0.727000	0.25999	1.472000	0.48140	0.305000	0.20034	TCC		0.602	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1			A	74847209	G	A	74847209	3	1	246	1	0	0	0	0	1	0	0	0	11754	1174	41	2	170	2	PF4	4	74847209	Missense_Mutation	SNP	G	TCGA-B2-4099-01A-02D-1458-08		74847209	116307067	7	14905											
HIST1H3I	8354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27839911	27839911	+	Silent	SNP	C	C	T			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr6:27839911C>T	ENST00000328488.2	-	1	188	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	61					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.L61L(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCCGGATTAGCAGCTCGGTCG	0.652																																																1	Substitution - coding silent(1)	kidney(1)											69	75	73					6																	27839911		2203	4300	6503	SO:0001819	synonymous_variant	8354			X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"Histones / Replication-dependent"	4771	protein-coding gene	gene with protein product		602814	"H3 histone family, member F", "histone 1, H3i"	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.183G>A	6.37:g.27839911C>T			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000328488.2	37	CCDS4636.1																																																																																				0.652	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		T	27839911	C	T	27839911	2	4	246	1	0	0	0	0	0	0	0	1	7165	697	25	2		2	HIST1H3I	6	27839911	Silent	SNP	C	TCGA-B2-4099-01A-02D-1458-08		27839911	143275156	8	14906											
CLDN3	1365	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	73183930	73183930	+	Silent	SNP	C	C	G			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr7:73183930C>G	ENST00000395145.2	-	1	670	c.450G>C	c.(448-450)gtG>gtC	p.V150V		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	150					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)	p.V150V(1)		kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CCTCGGGCACCACGGGGTTGT	0.706																																																1	Substitution - coding silent(1)	kidney(1)											25	25	25					7																	73183930		2198	4299	6497	SO:0001819	synonymous_variant	1365			AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"Claudins"	2045	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 2", "ventral prostate.1-like protein", "claudin-3", "CPE-receptor 2"	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.450G>C	7.37:g.73183930C>G				Silent	SNP	ENST00000395145.2	37	CCDS5559.1																																																																																				0.706	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		G	73183930	C	G	73183930	2	3	246	1	0	0	0	0	0	0	0	1	3488	581	21	4		4	CLDN3	7	73183930	Silent	SNP	C	TCGA-B2-4099-01A-02D-1458-08		73183930	85954733	9	14907											
PYCR1	5831	broad.mit.edu	37	17	79894640	79894640	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr17:79894640C>G	ENST00000329875.8	-	1	115	c.51G>C	c.(49-51)aaG>aaC	p.K17N	PYCR1_ENST00000403172.4_Missense_Mutation_p.K17N|PYCR1_ENST00000402252.2_Missense_Mutation_p.K44N|PYCR1_ENST00000577756.1_Missense_Mutation_p.K17N|PYCR1_ENST00000337943.5_Missense_Mutation_p.K17N	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	17					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)	p.K17N(2)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CTGTGAAGCCCTTGGCCAGGG	0.672																																																2	Substitution - Missense(2)	kidney(2)											24	28	27					17																	79894640		2199	4292	6491	SO:0001583	missense	5831				CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.51G>C	17.37:g.79894640C>G	ENSP00000328858:p.Lys17Asn		A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	CCDS11795.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696832	0.30142	.	.	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.42	3.43	0.39272	NAD(P)-binding domain (1);	0.223955	0.43747	D	0.000537	T	0.50650	0.1628	L	0.50993	1.605	0.58432	D	0.999997	D;D;D;D;B;D	0.69078	0.972;0.966;0.997;0.966;0.274;0.992	P;P;D;P;B;D	0.65773	0.899;0.818;0.938;0.818;0.202;0.934	T	0.48080	-0.9066	10	0.46703	T	0.11	.	7.4882	0.27445	0.0:0.7059:0.1387:0.1554	.	44;17;17;17;17;17	B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;P5CR1_HUMAN;.;.	N	17;17;17;44;17	ENSP00000336579:K17N;ENSP00000328858:K17N;ENSP00000385483:K17N;ENSP00000384949:K44N;ENSP00000386002:K17N	ENSP00000328858:K17N	K	-	3	2	PYCR1	77487931	0.906000	0.30813	1.000000	0.80357	0.929000	0.56500	0.557000	0.23454	2.009000	0.58944	0.561000	0.74099	AAG		0.672	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			G	79894640	C	G	79894640	3	3	246	1	0	0	0	0	1	0	0	0	12861	680	24	4	1024	4	PYCR1	17	79894640	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1458-08		79894640	1300570	10	14908											
KIAA0802	23255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	8825236	8825236	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr18:8825236C>T	ENST00000306329.11	+	13	4685	c.4685C>T	c.(4684-4686)cCc>cTc	p.P1562L	SOGA2_ENST00000400050.3_Missense_Mutation_p.P1202L|SOGA2_ENST00000359865.3_Missense_Mutation_p.P1243L|SOGA2_ENST00000518815.1_Missense_Mutation_p.P568L|SOGA2_ENST00000517570.1_Missense_Mutation_p.P1202L|SOGA2_ENST00000306285.7_Missense_Mutation_p.P568L														p.P1243L(2)									TGCACCTCCCCCAGGCACTCC	0.662																																																2	Substitution - Missense(2)	kidney(2)											18	21	20					18																	8825236		2197	4295	6492	SO:0001583	missense	0																														ENST00000306329.11:c.4685C>T	18.37:g.8825236C>T	ENSP00000305027:p.Pro1562Leu			Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	C	3.248	-0.153816	0.06585	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.29397	2.58;2.58;2.58;1.57	5.24	4.35	0.52113	.	0.802924	0.10887	N	0.623129	T	0.25494	0.0620	L	0.34521	1.04	0.09310	N	1	B;B	0.25955	0.138;0.002	B;B	0.21708	0.036;0.006	T	0.19844	-1.0293	10	0.66056	D	0.02	-4.5397	10.3939	0.44190	0.144:0.6963:0.1596:0.0	.	1553;1243	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	L	1264;1202;1243;1202;568	ENSP00000429556:P1202L;ENSP00000352927:P1243L;ENSP00000382924:P1202L;ENSP00000303670:P568L	ENSP00000303670:P568L	P	+	2	0	CCDC165	8815236	0.805000	0.28982	0.092000	0.20876	0.024000	0.10985	1.319000	0.33655	1.176000	0.42840	0.655000	0.94253	CCC		0.662	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8825236	C	T	8825236	3	4	246	1	0	0	0	0	1	0	0	0	8196	623	22	2	3778	2	KIAA0802	18	8825236	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1458-08		8825236	69252012	11	14909											
SBNO2	22904	broad.mit.edu;hgsc.bcm.edu	37	19	1112193	1112193	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr19:1112193T>C	ENST00000361757.3	-	22	2860	c.2623A>G	c.(2623-2625)Agt>Ggt	p.S875G	SBNO2_ENST00000438103.2_Missense_Mutation_p.S818G|SBNO2_ENST00000587024.1_Missense_Mutation_p.S865G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	875					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)			p.S882G(2)|p.S875G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACCAGACTCTCCAGGCGC	0.657																																																4	Substitution - Missense(4)	kidney(4)											13	16	15					19																	1112193		1935	4127	6062	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2623A>G	19.37:g.1112193T>C	ENSP00000354733:p.Ser875Gly		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756695	0.89843	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.75477	-0.94;-0.94	4.7	4.7	0.59300	.	0.041945	0.85682	D	0.000000	D	0.88695	0.6506	M	0.93062	3.375	0.45733	D	0.998632	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	D	0.91337	0.5094	10	0.87932	D	0	-25.4377	13.6202	0.62132	0.0:0.0:0.0:1.0	.	875;818	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	G	875;818;882	ENSP00000354733:S875G;ENSP00000400762:S818G	ENSP00000250872:S882G	S	-	1	0	SBNO2	1063193	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.778000	0.85637	1.882000	0.54519	0.368000	0.22195	AGT		0.657	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		C	1112193	T	C	1112193	3	2	246	1	0	0	0	0	1	0	0	0	13869	1551	54	3	1521	3	SBNO2	19	1112193	Missense_Mutation	SNP	T	TCGA-B2-4099-01A-02D-1458-08		1112193	58016790	12	14910											
NOSIP	51070	broad.mit.edu;hgsc.bcm.edu	37	19	50060397	50060397	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-4099-01A-02D-1458-08	TCGA-B2-4099-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01c54f7c-84b9-4f5b-ae44-2ac1f661fd29	54cf60f2-947e-4eb0-b5a7-1e644ca10dba	g.chr19:50060397C>G	ENST00000596358.1	-	5	426	c.368G>C	c.(367-369)aGc>aCc	p.S123T	NOSIP_ENST00000339093.3_Missense_Mutation_p.S123T|NOSIP_ENST00000391853.3_Missense_Mutation_p.S123T	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	123					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S123T(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GAGGGGCCGGCTCACGATAGC	0.697																																																2	Substitution - Missense(2)	kidney(2)											25	28	27					19																	50060397		2203	4300	6503	SO:0001583	missense	51070			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.368G>C	19.37:g.50060397C>G	ENSP00000470034:p.Ser123Thr		Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290280	0.23478	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.78003	-1.14;-1.14	5.15	4.05	0.47172	.	0.104089	0.64402	D	0.000004	T	0.69860	0.3158	L	0.39514	1.22	0.58432	D	0.999998	D	0.52996	0.957	P	0.45712	0.491	T	0.66348	-0.5946	10	0.10636	T	0.68	-55.6421	14.0315	0.64617	0.0:0.8475:0.1524:0.0	.	123	Q9Y314	NOSIP_HUMAN	T	123	ENSP00000343497:S123T;ENSP00000375726:S123T	ENSP00000343497:S123T	S	-	2	0	NOSIP	54752209	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	1.868000	0.39509	2.409000	0.81822	0.462000	0.41574	AGC		0.697	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			G	50060397	C	G	50060397	3	3	246	1	0	0	0	0	1	0	0	0	10547	797	28	4	557	4	NOSIP	19	50060397	Missense_Mutation	SNP	C	TCGA-B2-4099-01A-02D-1458-08	48948204	50060397	9068586	13	14911											
RUNX3	864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	25256117	25256117	+	Silent	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr1:25256117C>A	ENST00000308873.6	-	1	251	c.243G>T	c.(241-243)tcG>tcT	p.S81S	RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000540420.1_5'Flank|RUNX3_ENST00000338888.3_Silent_p.S95S|RUNX3_ENST00000399916.1_Silent_p.S95S	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	81	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S95S(1)|p.S81S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		AGCGCCAGTGCGAGGGCAGCA	0.736																																																2	Substitution - coding silent(2)	kidney(2)											34	30	31					1																	25256117		2201	4298	6499	SO:0001819	synonymous_variant	864			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.243G>T	1.37:g.25256117C>A			B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	CCDS257.1																																																																																				0.736	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		A	25256117	C	A	25256117	2	1	247	1	0	0	0	0	0	0	0	1	13755	755	27	4		4	RUNX3	1	25256117	Silent	SNP	C	TCGA-B2-4101-01A-02D-1458-08		25256117	223994504	1	14912											
C1orf52	148423	broad.mit.edu	37	1	85725279	85725279	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr1:85725279G>A	ENST00000471115.1	-	1	46	c.38C>T	c.(37-39)gCg>gTg	p.A13V	C1orf52_ENST00000344356.5_Missense_Mutation_p.A13V|C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	13							poly(A) RNA binding (GO:0044822)	p.A13V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCCGTATGCCGCAAAATAGCT	0.652											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											18	16	17					1																	85725279		2203	4299	6502	SO:0001583	missense	148423			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.38C>T	1.37:g.85725279G>A	ENSP00000419417:p.Ala13Val	1239	B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP	ENST00000471115.1	37	CCDS703.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.588065	0.66105	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.64	4.73	0.59995	.	0.055194	0.64402	D	0.000001	T	0.29458	0.0734	L	0.54323	1.7	0.47065	D	0.999303	P;B	0.45283	0.855;0.265	B;B	0.29440	0.102;0.049	T	0.39099	-0.9630	9	0.66056	D	0.02	-2.7477	14.7442	0.69477	0.0695:0.0:0.9304:0.0	.	13;13	Q8N6N3-2;Q8N6N3	.;CA052_HUMAN	V	13	.	ENSP00000345092:A13V	A	-	2	0	C1orf52	85497867	1.000000	0.71417	0.665000	0.29768	0.061000	0.15899	6.189000	0.72051	1.523000	0.49018	0.637000	0.83480	GCG		0.652	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077		A	85725279	G	A	85725279	3	1	247	1	0	0	0	0	1	0	0	0	2046	1087	38	1	522	1	C1orf52	1	85725279	Missense_Mutation	SNP	G	TCGA-B2-4101-01A-02D-1458-08	60469162	85725279	163525342	2	14913											
PTGS2	5743	broad.mit.edu;hgsc.bcm.edu	37	1	186646956	186646956	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr1:186646956T>G	ENST00000367468.5	-	5	600	c.464A>C	c.(463-465)aAg>aCg	p.K155T	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	155					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.K155T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AGGAAGCTGCTTTTTACCTGA	0.368																																																2	Substitution - Missense(2)	kidney(2)											69	70	70					1																	186646956		2203	4300	6503	SO:0001583	missense	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.464A>C	1.37:g.186646956T>G	ENSP00000356438:p.Lys155Thr		A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547498	0.65311	.	.	ENSG00000073756	ENST00000367468	T	0.68903	-0.36	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.79475	2.455	0.58432	D	0.999999	B	0.23990	0.095	B	0.37346	0.247	T	0.74553	-0.3627	10	0.66056	D	0.02	-26.911	15.9117	0.79477	0.0:0.0:0.0:1.0	.	155	P35354	PGH2_HUMAN	T	155	ENSP00000356438:K155T	ENSP00000356438:K155T	K	-	2	0	PTGS2	184913579	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.999000	0.70665	2.156000	0.67533	0.528000	0.53228	AAG		0.368	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		G	186646956	T	G	186646956	3	3	247	1	0	0	0	0	1	0	0	0	12762	1609	56	5	1374	5	PTGS2	1	186646956	Missense_Mutation	SNP	T	TCGA-B2-4101-01A-02D-1458-08	100921677	186646956	62603665	3	14914											
CFH	3075	broad.mit.edu;hgsc.bcm.edu	37	1	196642129	196642130	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr1:196642129_196642130GA>TT	ENST00000359637.2	+	2	142_143	c.80_81GA>TT	c.(79-81)aGA>aTT	p.R27I	CFH_ENST00000367429.4_Missense_Mutation_p.R27I|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000439155.2_Missense_Mutation_p.R27I			P08603	CFAH_HUMAN	complement factor H	876	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.R27I(1)|p.R27S(1)|p.R27>?(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTCCTCCAAGAAGAAATACAG	0.351																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	Exception_encountered	1.37:g.196642129_196642130delinsTT	ENSP00000352658:p.Arg27Ile		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37																																																																																					0.351	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		TT	196642130	GA	TT	196642129	3	4	247	1	0	0	0	0	1	0	0	0	3285	942	33	4	86	4	CFH	1	196642129	Missense_Mutation	DNP	GA	TCGA-B2-4101-01A-02D-1458-08	9995173	196642129	52608492	4	14915											
THSD7B	80731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	138414712	138414712	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr2:138414712G>T	ENST00000409968.1	+	24	4535	c.4357G>T	c.(4357-4359)Gat>Tat	p.D1453Y	THSD7B_ENST00000543459.1_Missense_Mutation_p.Q287H|THSD7B_ENST00000272643.3_Missense_Mutation_p.D1456Y|THSD7B_ENST00000413152.2_Missense_Mutation_p.D1425Y			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1455						integral component of membrane (GO:0016021)		p.D1456Y(2)|p.D1425Y(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCAGCGTTCAGATGGCGTTAA	0.403																																																3	Substitution - Missense(3)	kidney(2)|lung(1)											109	106	107					2																	138414712		1946	4152	6098	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4357G>T	2.37:g.138414712G>T	ENSP00000387145:p.Asp1453Tyr			Missense_Mutation	SNP	ENST00000409968.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.19|14.19	2.460551|2.460551	0.43736|0.43736	.|.	.|.	ENSG00000144229|ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152|ENST00000543459	T;T;T|T	0.37915|0.24151	1.67;1.55;1.17|1.87	6.13|6.13	6.13|6.13	0.99165|0.99165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45034|0.45034	0.1322|0.1322	M|M	0.72118|0.72118	2.19|2.19	0.39585|0.39585	D|D	0.969491|0.969491	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.10613|0.10613	-1.0622|-1.0622	10|7	0.62326|0.12103	D|T	0.03|0.63	.|.	20.8599|20.8599	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1425|.	C9JKN6|.	.|.	Y|H	1453;1456;1425|287	ENSP00000387145:D1453Y;ENSP00000272643:D1456Y;ENSP00000413841:D1425Y|ENSP00000443370:Q287H	ENSP00000272643:D1456Y|ENSP00000443370:Q287H	D|Q	+|+	1|3	0|2	THSD7B|THSD7B	138131182|138131182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.472000|9.472000	0.97709|0.97709	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAT|CAG		0.403	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		T	138414712	G	T	138414712	3	4	247	1	0	0	0	0	1	0	0	0	15885	942	33	4	4359	4	THSD7B	2	138414712	Missense_Mutation	SNP	G	TCGA-B2-4101-01A-02D-1458-08		138414712	104784661	5	14916											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47129722	47129722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr3:47129722C>A	ENST00000409792.3	-	10	5200	c.5158G>T	c.(5158-5160)Gaa>Taa	p.E1720*	snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1720					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E1217*(1)|p.E1720*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCAGAGCTTCTAGCTCTCCA	0.373			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											97	101	100					3																	47129722		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5158G>T	3.37:g.47129722C>A	ENSP00000386759:p.Glu1720*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	44	11.105493	0.99516	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	4.46	4.46	0.54185	.	0.000000	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	17.6746	0.88227	0.0:1.0:0.0:0.0	.	.	.	.	X	1720	.	ENSP00000386759:E1720X	E	-	1	0	SETD2	47104726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.278000	0.78587	2.464000	0.83262	0.650000	0.86243	GAA		0.373	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47129722	C	A	47129722	4	1	247	1	0	0	0	0	0	1	0	0	14137	922	32	4	2584	4	SETD2	3	47129722	Nonsense_Mutation	SNP	C	TCGA-B2-4101-01A-02D-1458-08		47129722	150892708	6	14917											
WDR52	55779	hgsc.bcm.edu;ucsc.edu	37	3	113098217	113098217	+	Missense_Mutation	SNP	G	G	A	rs58988763	byFrequency	TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr3:113098217G>A	ENST00000295868.2	-	17	2396	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L	WDR52_ENST00000393845.2_Missense_Mutation_p.P745L|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GGGGGTTGACGGAATAAATAT	0.428													.|||	227	0.0453275	0.0023	0.0159	5008	,	,		13431	0.1062		0.0398	False		,,,				2504	0.0675															0								G	LEU/PRO,LEU/PRO	29,4377	35.2+/-66.4	0,29,2174	81	80	80		2234,2234	5.4	0.3	3	dbSNP_129	80	313,8287	112.3+/-172.5	6,301,3993	yes	missense,missense	WDR52	NM_001164496.1,NM_018338.3	98,98	6,330,6167	AA,AG,GG		3.6395,0.6582,2.6296	probably-damaging,probably-damaging	745/1855,745/983	113098217	342,12664	2203	4300	6503	SO:0001583	missense	55779																														ENST00000295868.2:c.2234C>T	3.37:g.113098217G>A	ENSP00000295868:p.Pro745Leu			Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	91	0.041666666666666664	1	0.0020325203252032522	7	0.019337016574585635	53	0.09265734265734266	30	0.0395778364116095	G	16.74	3.207429	0.58343	0.006582	0.036395	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.18174	2.23;2.23	5.42	5.42	0.78866	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.02380	0.0073	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00180	-1.1949	9	0.87932	D	0	.	19.0063	0.92852	0.0:0.0:1.0:0.0	rs58988763	745	Q96MT7	WDR52_HUMAN	L	745	ENSP00000377428:P745L;ENSP00000295868:P745L	ENSP00000295868:P745L	P	-	2	0	WDR52	114580907	1.000000	0.71417	0.291000	0.24904	0.112000	0.19704	6.997000	0.76270	2.826000	0.97356	0.563000	0.77884	CCG		0.428	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			A	113098217	G	A	113098217	3	1	247	1	0	0	0	0	1	0	0	0	17309	1116	39	1	3421	1	WDR52	3	113098217	Missense_Mutation	SNP	G	TCGA-B2-4101-01A-02D-1458-08	65968495	113098217	84924213	7	14918											
TM4SF19	116211	broad.mit.edu;ucsc.edu	37	3	196053866	196053866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr3:196053866C>T	ENST00000273695.3	-	3	364	c.239G>A	c.(238-240)tGg>tAg	p.W80*	TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000446879.1_Nonsense_Mutation_p.W80*|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000442633.1_Nonsense_Mutation_p.W80*|TM4SF19_ENST00000454715.1_Intron	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	80						integral component of membrane (GO:0016021)		p.W80*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GCCGTATCTCCAGCCCATCAA	0.502																																																1	Substitution - Nonsense(1)	kidney(1)											88	82	84					3																	196053866		2203	4300	6503	SO:0001587	stop_gained	116211			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.239G>A	3.37:g.196053866C>T	ENSP00000273695:p.Trp80*		B2RV20|E9PH22|Q336K7	Nonsense_Mutation	SNP	ENST00000273695.3	37	CCDS3316.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496535	0.85069	.	.	ENSG00000145107	ENST00000446879;ENST00000273695	.	.	.	5.37	5.37	0.77165	.	0.509728	0.19796	N	0.105874	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-7.1405	14.6173	0.68558	0.0:1.0:0.0:0.0	.	.	.	.	X	80	.	ENSP00000273695:W80X	W	-	2	0	TM4SF19	197538263	1.000000	0.71417	0.985000	0.45067	0.602000	0.36980	3.565000	0.53798	2.528000	0.85240	0.655000	0.94253	TGG		0.502	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461		T	196053866	C	T	196053866	4	4	247	1	0	0	0	0	0	1	0	0	15973	595	21	2	402	2	TM4SF19	3	196053866	Nonsense_Mutation	SNP	C	TCGA-B2-4101-01A-02D-1458-08	82955649	196053866	1968564	8	14919											
MUC7	4589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71346715	71346715	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr4:71346715C>T	ENST00000304887.5	+	3	444	c.254C>T	c.(253-255)cCa>cTa	p.P85L	MUC7_ENST00000413702.1_Missense_Mutation_p.P85L|MUC7_ENST00000456088.1_Missense_Mutation_p.P85L|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	85					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P85L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCCAAATTCCCAAATCCTCAC	0.458																																																1	Substitution - Missense(1)	kidney(1)											108	108	108					4																	71346715		2203	4300	6503	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.254C>T	4.37:g.71346715C>T	ENSP00000302021:p.Pro85Leu		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219081	0.22373	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.57107	0.44;0.42;0.44;0.44	1.65	1.65	0.23941	.	.	.	.	.	T	0.47691	0.1459	N	0.24115	0.695	0.09310	N	1	P	0.50710	0.938	P	0.56216	0.794	T	0.28459	-1.0043	9	0.62326	D	0.03	.	5.2499	0.15517	0.3402:0.6598:0.0:0.0	.	85	Q8TAX7	MUC7_HUMAN	L	85	ENSP00000407422:P85L;ENSP00000427594:P85L;ENSP00000400585:P85L;ENSP00000302021:P85L	ENSP00000302021:P85L	P	+	2	0	MUC7	71381304	0.458000	0.25760	0.012000	0.15200	0.096000	0.18686	1.006000	0.29847	1.260000	0.44134	0.561000	0.74099	CCA		0.458	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		T	71346715	C	T	71346715	3	4	247	1	0	0	0	0	1	0	0	0	9983	594	21	2	260	2	MUC7	4	71346715	Missense_Mutation	SNP	C	TCGA-B2-4101-01A-02D-1458-08		71346715	119807561	9	14920											
FAM170A	340069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	118970217	118970217	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr5:118970217C>A	ENST00000515256.1	+	3	946	c.774C>A	c.(772-774)caC>caA	p.H258Q				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	258					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H258Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCAGCTGCCACGTCTTTCATC	0.552																																																1	Substitution - Missense(1)	kidney(1)											135	141	139					5																	118970217		2066	4211	6277	SO:0001583	missense	340069			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.774C>A	5.37:g.118970217C>A	ENSP00000422684:p.His258Gln		Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37		.	.	.	.	.	.	.	.	.	.	C	17.23	3.335521	0.60853	.	.	ENSG00000164334	ENST00000515256	T	0.31510	1.49	5.13	0.145	0.14829	.	0.092379	0.47852	N	0.000211	T	0.35451	0.0932	L	0.45137	1.4	0.28868	N	0.895122	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.19418	-1.0306	9	.	.	.	-10.5664	1.0654	0.01609	0.1595:0.4233:0.1549:0.2623	.	211;258	D6RIE9;A1A519	.;F170A_HUMAN	Q	258	ENSP00000422684:H258Q	.	H	+	3	2	FAM170A	118998116	0.127000	0.22367	0.997000	0.53966	0.961000	0.63080	-1.481000	0.02323	0.108000	0.17862	0.655000	0.94253	CAC		0.552	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		A	118970217	C	A	118970217	3	1	247	1	0	0	0	0	1	0	0	0	5491	535	19	4	784	4	FAM170A	5	118970217	Missense_Mutation	SNP	C	TCGA-B2-4101-01A-02D-1458-08		118970217	61945043	10	14921											
PCDHA10	56139	broad.mit.edu;ucsc.edu	37	5	140236864	140236864	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr5:140236864G>T	ENST00000307360.5	+	1	1231	c.1231G>T	c.(1231-1233)Gct>Tct	p.A411S	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A411S|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A411S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGCGCTCTGGACCG	0.632																																																2	Substitution - Missense(2)	kidney(2)											143	128	133					5																	140236864		2197	4274	6471	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1231G>T	5.37:g.140236864G>T	ENSP00000304234:p.Ala411Ser		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	1.551	-0.539153	0.04053	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.51817	4.23;0.69	3.96	0.881	0.19166	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.25306	0.0615	N	0.10837	0.055	0.09310	N	1	B;B;B	0.25390	0.103;0.125;0.098	B;B;B	0.28849	0.071;0.062;0.095	T	0.23511	-1.0186	9	0.30078	T	0.28	.	4.7926	0.13256	0.0887:0.3309:0.4542:0.1261	.	411;411;411	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	S	411	ENSP00000421030:A411S;ENSP00000304234:A411S	ENSP00000304234:A411S	A	+	1	0	PCDHA10	140217048	0.000000	0.05858	0.816000	0.32577	0.102000	0.19082	-2.936000	0.00685	0.439000	0.26476	-0.314000	0.08810	GCT		0.632	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		T	140236864	G	T	140236864	3	4	247	1	0	0	0	0	1	0	0	0	11522	1087	38	4	1233	4	PCDHA10	5	140236864	Missense_Mutation	SNP	G	TCGA-B2-4101-01A-02D-1458-08	21266647	140236864	40678396	11	14922											
CDSN	170679	broad.mit.edu;hgsc.bcm.edu	37	6	31088189	31088189	+	Intron	SNP	G	G	A	rs374928892		TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr6:31088189G>A	ENST00000259881.9	+	2	61				CDSN_ENST00000376288.2_Missense_Mutation_p.S3L	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1									p.S3L(1)		kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGCCCGAGACGAGCCCATCTC	0.657																																																1	Substitution - Missense(1)	kidney(1)						G	LEU/SER,	1,4375		0,1,2187	33	27	29		8,	1.4	0	6		29	0,8580		0,0,4290	no	missense,intron	CDSN,PSORS1C1	NM_001264.4,NM_014068.2	145,	0,1,6477	AA,AG,GG		0.0,0.0229,0.0077	possibly-damaging,	3/530,	31088189	1,12955	2188	4290	6478	SO:0001627	intron_variant	1041			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-228-5264G>A	6.37:g.31088189G>A			B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.544137	0.00142	2.29E-4	0.0	ENSG00000204539	ENST00000376288	T	0.06068	3.35	4.35	1.41	0.22369	.	0.437967	0.17025	N	0.189950	T	0.01976	0.0062	L	0.52573	1.65	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.42816	-0.9429	10	0.52906	T	0.07	-0.2847	6.2616	0.20903	0.2037:0.1525:0.6438:0.0	.	3	Q15517	CDSN_HUMAN	L	3	ENSP00000365465:S3L	ENSP00000365465:S3L	S	-	2	0	CDSN	31196168	0.993000	0.37304	0.033000	0.17914	0.005000	0.04900	1.106000	0.31098	-0.137000	0.11455	-2.341000	0.00245	TCG		0.657	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		A	31088189	G	A	31088189	1	1	247	0	1	0	0	0	0	0	0	0	3181	1059	37	1		1	CDSN	6	31088189	Intron	SNP	G	TCGA-B2-4101-01A-02D-1458-08		31088189	140026878	12	14923											
TREML4	285852	hgsc.bcm.edu;ucsc.edu	37	6	41196691	41196691	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr6:41196691delG	ENST00000341495.2	+	2	407	c.303delG	c.(301-303)cagfs	p.Q101fs	TREML4_ENST00000448827.2_Frame_Shift_Del_p.Q101fs	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	101	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGCTGACACAGAATGACTCGG	0.483																																																0													90	85	87					6																	41196691		2203	4300	6503	SO:0001589	frameshift_variant	285852			AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"Immunoglobulin superfamily / V-set domain containing"	30807	protein-coding gene	gene with protein product	"TREM like transcript 4"	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.303delG	6.37:g.41196691delG	ENSP00000342570:p.Gln101fs		B7ZL92	Frame_Shift_Del	DEL	ENST00000341495.2	37	CCDS34446.1																																																																																				0.483	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2			-	41196691	G	-	41196691	7	5	247	1	0	1	0	1	0	0	0	0	16479	933	33	0	309	0	TREML4	6	41196691	Frame_Shift_Del	DEL	G	TCGA-B2-4101-01A-02D-1458-08	10108502	41196691	129918376	13	14924											
TAS2R60	338398	broad.mit.edu;ucsc.edu	37	7	143140757	143140757	+	Nonsense_Mutation	SNP	C	C	G			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr7:143140757C>G	ENST00000332690.1	+	1	212	c.212C>G	c.(211-213)tCa>tGa	p.S71*	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	71					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S71*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGTCTGCAGTCAGTGGTAATG	0.493																																																1	Substitution - Nonsense(1)	kidney(1)											174	162	166					7																	143140757		2203	4300	6503	SO:0001587	stop_gained	338398			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.212C>G	7.37:g.143140757C>G	ENSP00000327724:p.Ser71*		A4D2G8|Q645W8|Q7RTR7	Nonsense_Mutation	SNP	ENST00000332690.1	37	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900878	0.33535	.	.	ENSG00000185899	ENST00000332690	.	.	.	5.68	3.78	0.43462	.	0.499250	0.16839	U	0.197419	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	8.7673	0.34711	0.0:0.1654:0.6645:0.1701	.	.	.	.	X	71	.	ENSP00000327724:S71X	S	+	2	0	TAS2R60	142850879	0.166000	0.22962	0.034000	0.17996	0.014000	0.08584	1.652000	0.37313	1.422000	0.47177	-0.128000	0.14901	TCA		0.493	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			G	143140757	C	G	143140757	4	3	247	1	0	0	0	0	0	1	0	0	15590	838	29	4	214	4	TAS2R60	7	143140757	Nonsense_Mutation	SNP	C	TCGA-B2-4101-01A-02D-1458-08		143140757	15997906	14	14925											
XKR6	286046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	11058309	11058309	+	Silent	SNP	G	G	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr8:11058309G>A	ENST00000416569.2	-	1	566	c.540C>T	c.(538-540)agC>agT	p.S180S	XKR6_ENST00000297303.4_Silent_p.S180S|AF131215.8_ENST00000602443.1_lincRNA	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	180						integral component of membrane (GO:0016021)		p.S180S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ACCAGCGGAAGCTCAGGCTCT	0.692																																																1	Substitution - coding silent(1)	kidney(1)											31	31	31					8																	11058309		2065	4070	6135	SO:0001819	synonymous_variant	286046			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 7", "chromosome 8 open reading frame 21", "X Kell blood group precursor-related family, member 6", "chromosome 8 open reading frame 5"	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.540C>T	8.37:g.11058309G>A			Q8TBA0	Silent	SNP	ENST00000416569.2	37	CCDS5978.2																																																																																				0.692	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		A	11058309	G	A	11058309	2	1	247	1	0	0	0	0	0	0	0	1	17440	962	34	2		2	XKR6	8	11058309	Silent	SNP	G	TCGA-B2-4101-01A-02D-1458-08		11058309	135305713	15	14926											
COMMD5	28991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	146076470	146076470	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr8:146076470A>T	ENST00000305103.3	-	2	506	c.254T>A	c.(253-255)cTg>cAg	p.L85Q	COMMD5_ENST00000450361.2_Missense_Mutation_p.L85Q|AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000402718.3_Missense_Mutation_p.L85Q	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	85						nucleus (GO:0005634)		p.L85Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GCCTGCCAGCAGGGCACCCAG	0.662																																																1	Substitution - Missense(1)	kidney(1)											19	18	18					8																	146076470		2199	4296	6495	SO:0001583	missense	28991			AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.254T>A	8.37:g.146076470A>T	ENSP00000304544:p.Leu85Gln		D3DWN7|Q9NVN6|Q9UHX5	Missense_Mutation	SNP	ENST00000305103.3	37	CCDS6436.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.646375	0.29246	.	.	ENSG00000170619	ENST00000402718;ENST00000450361;ENST00000305103;ENST00000529143;ENST00000533270	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	4.1	4.1	0.47936	.	0.272597	0.29034	N	0.013344	T	0.24353	0.0590	M	0.63843	1.955	0.09310	N	0.999991	D	0.53151	0.958	P	0.54210	0.745	T	0.04178	-1.0971	10	0.72032	D	0.01	.	9.6749	0.40034	1.0:0.0:0.0:0.0	.	85	Q9GZQ3	COMD5_HUMAN	Q	85	ENSP00000385793:L85Q;ENSP00000394331:L85Q;ENSP00000304544:L85Q;ENSP00000435552:L85Q;ENSP00000433758:L85Q	ENSP00000304544:L85Q	L	-	2	0	COMMD5	146047274	0.067000	0.21026	0.095000	0.20976	0.057000	0.15508	1.866000	0.39489	1.862000	0.54008	0.377000	0.23210	CTG		0.662	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066		T	146076470	A	T	146076470	3	4	247	1	0	0	0	0	1	0	0	0	3721	188	7	5	424	5	COMMD5	8	146076470	Missense_Mutation	SNP	A	TCGA-B2-4101-01A-02D-1458-08	135018161	146076470	287552	16	14927											
RTKN2	219790	broad.mit.edu;hgsc.bcm.edu	37	10	63999439	63999440	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr10:63999439_63999440GA>TT	ENST00000373789.3	-	5	551_552	c.455_456TC>AA	c.(454-456)aTC>aAA	p.I152K	RTKN2_ENST00000395260.3_Missense_Mutation_p.I152K|RTKN2_ENST00000395265.1_Missense_Mutation_p.I152K	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	152					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I152I(1)|p.I152>?(1)|p.I152N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					ATATATCTGTGATTGTTTTATC	0.272																																																3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.455_456delinsTT	10.37:g.63999439_63999440delinsTT	ENSP00000362894:p.Ile152Lys		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent|Missense_Mutation	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																				0.272	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		TT	63999440	GA	TT	63999439	3	4	247	1	0	0	0	0	1	0	0	0	13729	1280	45	4	1405	4	RTKN2	10	63999439	Missense_Mutation	DNP	GA	TCGA-B2-4101-01A-02D-1458-08		63999439	71535308	17	14928											
DDX50	79009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70706192	70706192	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr10:70706192T>C	ENST00000373585.3	+	15	2127	c.2020T>C	c.(2020-2022)Tct>Cct	p.S674P	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	674						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.S674P(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAACACATCTTCTAATTCCAG	0.507																																																1	Substitution - Missense(1)	kidney(1)											50	50	50					10																	70706192		2203	4300	6503	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.2020T>C	10.37:g.70706192T>C	ENSP00000362687:p.Ser674Pro		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.769581	0.49680	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20069	2.1	5.46	5.46	0.80206	.	0.487225	0.24361	N	0.039186	T	0.22666	0.0547	N	0.08118	0	0.37942	D	0.932365	D	0.54601	0.967	D	0.63033	0.91	T	0.22871	-1.0204	10	0.31617	T	0.26	-9.3815	12.217	0.54412	0.0:0.0:0.0:1.0	.	674	Q9BQ39	DDX50_HUMAN	P	674	ENSP00000362687:S674P	ENSP00000362687:S674P	S	+	1	0	DDX50	70376198	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	0.630000	0.24553	2.206000	0.71126	0.383000	0.25322	TCT		0.507	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		C	70706192	T	C	70706192	3	2	247	1	0	0	0	0	1	0	0	0	4370	1783	62	3	2078	3	DDX50	10	70706192	Missense_Mutation	SNP	T	TCGA-B2-4101-01A-02D-1458-08	6706753	70706192	64828555	18	14929											
H2AFY2	55506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	71835428	71835428	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr10:71835428G>C	ENST00000373255.4	+	2	278	c.14G>C	c.(13-15)aGt>aCt	p.S5T		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	5	Histone H2A.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)	p.S5T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCGGGCCGGAGTGGGAAGAAG	0.517																																																1	Substitution - Missense(1)	kidney(1)											201	168	179					10																	71835428		2203	4300	6503	SO:0001583	missense	55506			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"Histones / Replication-independent"	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.14G>C	10.37:g.71835428G>C	ENSP00000362352:p.Ser5Thr		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506120	0.64410	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;D	0.84589	1.93;-1.87	6.06	4.21	0.49690	Histone-fold (1);Histone H2A (1);	0.095561	0.64402	N	0.000001	T	0.77003	0.4067	N	0.26092	0.79	0.47778	D	0.999516	B	0.11235	0.004	B	0.15870	0.014	T	0.71935	-0.4442	10	0.87932	D	0	.	11.9107	0.52737	0.0661:0.1228:0.8111:0.0	.	5	Q9P0M6	H2AW_HUMAN	T	5	ENSP00000362352:S5T;ENSP00000404584:S5T	ENSP00000362352:S5T	S	+	2	0	H2AFY2	71505434	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	7.884000	0.87274	0.892000	0.36259	-0.176000	0.13171	AGT		0.517	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		C	71835428	G	C	71835428	3	2	247	1	0	0	0	0	1	0	0	0	6932	1029	36	4	16	4	H2AFY2	10	71835428	Missense_Mutation	SNP	G	TCGA-B2-4101-01A-02D-1458-08	1129236	71835428	63699319	19	14930											
CDHR5	53841	hgsc.bcm.edu	37	11	618965	618967	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	GTT	GTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr11:618965_618967delGTT	ENST00000358353.3	-	14	1914_1916	c.1592_1594delAAC	c.(1591-1596)caacca>cca	p.Q531del	IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000397542.2_In_Frame_Del_p.Q531del|IRF7_ENST00000330243.5_5'Flank|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	531					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGAGTGGCTGGTTGGTGGGAGGT	0.67																																																0																																										SO:0001651	inframe_deletion	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1592_1594delAAC	11.37:g.618965_618967delGTT	ENSP00000351118:p.Gln531del		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	In_Frame_Del	DEL	ENST00000358353.3	37	CCDS7707.1																																																																																				0.67	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		-	618967	GTT	-	618965	7	5	247	1	0	1	0	1	0	0	0	0	3124	1261	44	0	955	0	CDHR5	11	618965	In_Frame_Del	DEL	GTT	TCGA-B2-4101-01A-02D-1458-08		618965	134387551	20	14931											
QSER1	79832	hgsc.bcm.edu;ucsc.edu	37	11	32954712	32954712	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr11:32954712delA	ENST00000399302.2	+	4	1856	c.1521delA	c.(1519-1521)tcafs	p.S509fs	QSER1_ENST00000527788.1_Frame_Shift_Del_p.S270fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	509	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTCAAGAGTCATCATCTCCCC	0.433																																																0													106	102	103					11																	32954712		1881	4100	5981	SO:0001589	frameshift_variant	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1521delA	11.37:g.32954712delA	ENSP00000382241:p.Ser509fs		Q6ZU30|Q6ZUR5	Frame_Shift_Del	DEL	ENST00000399302.2	37	CCDS41631.1																																																																																				0.433	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		-	32954712	A	-	32954712	7	5	247	1	0	1	0	1	0	0	0	0	12888	204	8	0	1527	0	QSER1	11	32954712	Frame_Shift_Del	DEL	A	TCGA-B2-4101-01A-02D-1458-08	32335747	32954712	102051804	21	14932											
TMPRSS13	84000	broad.mit.edu	37	11	117785150	117785150	+	Silent	SNP	G	G	A	rs376048907		TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr11:117785150G>A	ENST00000430170.2	-	4	723	c.636C>T	c.(634-636)gaC>gaT	p.D212D	TMPRSS13_ENST00000526090.1_Silent_p.D212D|TMPRSS13_ENST00000528626.1_Silent_p.D177D|TMPRSS13_ENST00000524993.1_Silent_p.D212D|TMPRSS13_ENST00000445164.2_Silent_p.D212D	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	212	LDL-receptor class A.|SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D212D(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCACCACCCCGTCACAGCGAA	0.597																																																1	Substitution - coding silent(1)	kidney(1)						G	,,	0,4378		0,0,2189	215	238	230		636,531,636	-3	1	11		230	1,8543	1.2+/-3.3	0,1,4271	no	coding-synonymous,coding-synonymous,coding-synonymous	TMPRSS13	NM_001077263.2,NM_001206789.1,NM_001206790.1	,,	0,1,6460	AA,AG,GG		0.0117,0.0,0.0077	,,	212/568,177/533,212/492	117785150	1,12921	2189	4272	6461	SO:0001819	synonymous_variant	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.636C>T	11.37:g.117785150G>A			B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	CCDS58185.1																																																																																				0.597	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		A	117785150	G	A	117785150	2	1	247	1	0	0	0	0	0	0	0	1	16250	1136	40	1		1	TMPRSS13	11	117785150	Silent	SNP	G	TCGA-B2-4101-01A-02D-1458-08	84830438	117785150	17221366	22	14933											
ERBB3	2065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56487323	56487323	+	Missense_Mutation	SNP	G	G	A	rs149951770	byFrequency	TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr12:56487323G>A	ENST00000267101.3	+	12	1909	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.R431H|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	490					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)	p.R490H(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AATCGGCCGCGCAGAGACTGC	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		20134	0.0		0.002	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	54	54	54		1469	3	0.6	12	dbSNP_134	54	0,8600		0,0,4300	yes	missense	ERBB3	NM_001982.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	490/1343	56487323	2,13004	2203	4300	6503	SO:0001583	missense	2065			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.1469G>A	12.37:g.56487323G>A	ENSP00000267101:p.Arg490His		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.846	0.722972	0.15439	4.54E-4	0.0	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.76968	-1.06;-1.05	5.06	3.02	0.34903	.	0.336739	0.21785	N	0.069147	T	0.56187	0.1968	L	0.27053	0.805	0.09310	N	0.999997	P;B	0.35656	0.514;0.433	B;B	0.25614	0.056;0.062	T	0.52124	-0.8617	10	0.51188	T	0.08	.	3.5145	0.07719	0.1653:0.0:0.4088:0.4259	.	490;490	B4DGQ7;P21860	.;ERBB3_HUMAN	H	490;431	ENSP00000267101:R490H;ENSP00000408340:R431H	ENSP00000267101:R490H	R	+	2	0	ERBB3	54773590	0.000000	0.05858	0.589000	0.28718	0.020000	0.10135	0.656000	0.24948	1.289000	0.44618	0.655000	0.94253	CGC		0.567	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			A	56487323	G	A	56487323	3	1	247	1	0	0	0	0	1	0	0	0	5210	1087	38	1	1646	1	ERBB3	12	56487323	Missense_Mutation	SNP	G	TCGA-B2-4101-01A-02D-1458-08		56487323	77364572	23	14934											
BCL11B	64919	broad.mit.edu;hgsc.bcm.edu	37	14	99640783	99640783	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr14:99640783G>A	ENST00000357195.3	-	4	2399	c.2390C>T	c.(2389-2391)aCg>aTg	p.T797M	BCL11B_ENST00000443726.2_Missense_Mutation_p.T603M|BCL11B_ENST00000345514.2_Missense_Mutation_p.T726M	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	797					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T797M(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GTACTCGCACGTGTCGCTGCG	0.721			T	TLX3	T-ALL																																		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	1	Substitution - Missense(1)	kidney(1)											22	19	20					14																	99640783		2199	4294	6493	SO:0001583	missense	64919			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2390C>T	14.37:g.99640783G>A	ENSP00000349723:p.Thr797Met		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484261	0.63962	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07800	3.16;3.16;3.16	4.16	3.25	0.37280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.183165	0.32687	N	0.005777	T	0.26702	0.0653	M	0.72894	2.215	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01762	-1.1279	10	0.72032	D	0.01	-13.0255	13.4122	0.60948	0.0:0.0:0.8413:0.1587	.	726;797	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	M	797;726;603	ENSP00000349723:T797M;ENSP00000280435:T726M;ENSP00000387419:T603M	ENSP00000280435:T726M	T	-	2	0	BCL11B	98710536	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.400000	0.79949	0.851000	0.35264	0.561000	0.74099	ACG		0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		A	99640783	G	A	99640783	3	1	247	1	0	0	0	0	1	0	0	0	1364	1145	40	1	298	1	BCL11B	14	99640783	Missense_Mutation	SNP	G	TCGA-B2-4101-01A-02D-1458-08		99640783	7708757	24	14935											
ITGA11	22801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68628034	68628034	+	Splice_Site	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr15:68628034C>A	ENST00000315757.7	-	12	1512		c.e12+1		ITGA11_ENST00000423218.2_Splice_Site	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CCCTCCATTACCTGCTGGCCC	0.637																																																1	Unknown(1)	kidney(1)											25	30	28					15																	68628034		1999	4162	6161	SO:0001630	splice_region_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1425+1G>T	15.37:g.68628034C>A			J3KQM2|Q8WYI8|Q9UKQ1	Splice_Site	SNP	ENST00000315757.7	37	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344965	0.82022	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9796	0.92751	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA11	66415088	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.748000	0.85085	2.723000	0.93209	0.655000	0.94253	.		0.637	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	Intron	A	68628034	C	A	68628034	5	1	247	1	0	0	0	0	0	0	1	0	7876	521	18	4	2216	4	ITGA11	15	68628034	Splice_Site	SNP	C	TCGA-B2-4101-01A-02D-1458-08		68628034	33903358	25	14936											
CES1	1066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	55844874	55844874	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr16:55844874C>A	ENST00000361503.4	-	10	1262	c.1132G>T	c.(1132-1134)Gcc>Tcc	p.A378S	CES1_ENST00000360526.3_Missense_Mutation_p.A379S|CES1_ENST00000422046.2_Missense_Mutation_p.A377S			P23141	EST1_HUMAN	carboxylesterase 1	378					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.A379S(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	AGTGACATGGCTGTCTTCTGG	0.433																																					NSCLC(162;1801 2756 42904 52896)											1	Substitution - Missense(1)	kidney(1)											76	73	74					16																	55844874		2198	4300	6498	SO:0001583	missense	1066			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1132G>T	16.37:g.55844874C>A	ENSP00000355193:p.Ala378Ser		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	11.36	1.617232	0.28801	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.67345	-0.26;-0.26;-0.26	4.61	4.61	0.57282	Carboxylesterase, type B (1);	0.109630	0.40728	N	0.001022	T	0.74906	0.3778	M	0.78285	2.405	0.09310	N	0.999995	B;B;B	0.22080	0.064;0.064;0.052	B;B;B	0.42112	0.27;0.376;0.176	T	0.67749	-0.5590	10	0.39692	T	0.17	.	12.9788	0.58552	0.0:1.0:0.0:0.0	.	377;378;379	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	S	379;378;377;243	ENSP00000353720:A379S;ENSP00000355193:A378S;ENSP00000390492:A377S	ENSP00000353720:A379S	A	-	1	0	CES1	54402375	0.485000	0.25972	0.093000	0.20910	0.048000	0.14542	3.713000	0.54882	2.134000	0.65973	0.449000	0.29647	GCC		0.433	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		A	55844874	C	A	55844874	3	1	247	1	0	0	0	0	1	0	0	0	3271	797	28	4	591	4	CES1	16	55844874	Missense_Mutation	SNP	C	TCGA-B2-4101-01A-02D-1458-08		55844874	34509879	26	14937											
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3920721	3920721	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr17:3920721T>G	ENST00000381638.2	-	48	8069	c.7945A>C	c.(7945-7947)Atg>Ctg	p.M2649L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2649							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.M2649L(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGTAGGTCATATGGGCAGGG	0.562																																																1	Substitution - Missense(1)	kidney(1)											64	58	60					17																	3920721		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7945A>C	17.37:g.3920721T>G	ENSP00000371051:p.Met2649Leu		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795216	0.50208	.	.	ENSG00000074755	ENST00000381638	T	0.17854	2.25	5.44	5.44	0.79542	.	0.040415	0.85682	D	0.000000	T	0.11110	0.0271	N	0.17082	0.46	0.58432	D	0.999994	B	0.24258	0.1	B	0.13407	0.009	T	0.17228	-1.0376	10	0.15499	T	0.54	-21.6053	15.7898	0.78345	0.0:0.0:0.0:1.0	.	2649	O43149	ZZEF1_HUMAN	L	2649	ENSP00000371051:M2649L	ENSP00000371051:M2649L	M	-	1	0	ZZEF1	3867470	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.590000	0.82653	2.187000	0.69744	0.528000	0.53228	ATG		0.562	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		G	3920721	T	G	3920721	3	3	247	1	0	0	0	0	1	0	0	0	18260	1406	49	5	972	5	ZZEF1	17	3920721	Missense_Mutation	SNP	T	TCGA-B2-4101-01A-02D-1458-08		3920721	77274489	27	14938											
KIF1C	10749	hgsc.bcm.edu	37	17	4926877	4926879	+	In_Frame_Del	DEL	TCG	TCG	-	rs549971892		TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	TCG	TCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr17:4926877_4926879delTCG	ENST00000320785.5	+	23	3100_3102	c.2743_2745delTCG	c.(2743-2745)tcgdel	p.S915del		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	915					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCGGCCCCCCTCGCCACCACTGT	0.67																																					Melanoma(96;1023 1447 10250 19259 33730)											0																																										SO:0001651	inframe_deletion	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2743_2745delTCG	17.37:g.4926877_4926879delTCG	ENSP00000320821:p.Ser915del		D3DTL6|O75186|Q5U618	In_Frame_Del	DEL	ENST00000320785.5	37	CCDS11065.1																																																																																				0.67	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			-	4926879	TCG	-	4926877	7	5	247	1	0	1	0	1	0	0	0	0	8287	1551	54	0	2825	0	KIF1C	17	4926877	In_Frame_Del	DEL	TCG	TCGA-B2-4101-01A-02D-1458-08	1006156	4926877	76268333	28	14939											
ZNF594	84622	hgsc.bcm.edu	37	17	5085789	5085790	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr17:5085789_5085790insCC	ENST00000399604.4	-	1	1902_1903	c.1762_1763insGG	c.(1762-1764)gtafs	p.V588fs	ZNF594_ENST00000575779.1_Frame_Shift_Ins_p.V588fs			Q96JF6	ZN594_HUMAN	zinc finger protein 594	588					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTATGAGTTACCTGATGTCTG	0.441																																																0																																										SO:0001589	frameshift_variant	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1761_1762dupGG	17.37:g.5085790_5085791dupCC	ENSP00000382513:p.Val588fs		Q6RFS0	Frame_Shift_Ins	INS	ENST00000399604.4	37	CCDS42241.1																																																																																				0.441	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		CC	5085790	-	CC	5085789	7	5	247	1	0	1	1	0	0	0	0	0	18029	391	14	0	664	0	ZNF594	17	5085789	Frame_Shift_Ins	INS	-	TCGA-B2-4101-01A-02D-1458-08	158912	5085789	76109421	29	14940											
ETV4	2118	broad.mit.edu	37	17	41610308	41610308	+	Splice_Site	SNP	C	C	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr17:41610308C>T	ENST00000319349.5	-	8	844		c.e8-1		ETV4_ENST00000393664.2_Splice_Site|ETV4_ENST00000591713.1_Splice_Site|ETV4_ENST00000545954.1_Splice_Site|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000545089.1_Splice_Site|ETV4_ENST00000538265.1_Splice_Site	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4						branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.?(1)	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GAAGACGGAGCTGGATGTGGT	0.567			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)		Dom	yes		17	17q21	2118	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"		"M, E"	1	Unknown(1)	kidney(1)											37	44	42					17																	41610308		2167	4257	6424	SO:0001630	splice_region_variant	2118			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.546-1G>A	17.37:g.41610308C>T			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Splice_Site	SNP	ENST00000319349.5	37	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367528	0.82463	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.038	0.89311	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ETV4	38965834	.	.	1.000000	0.80357	0.992000	0.81027	.	.	2.698000	0.92095	0.561000	0.74099	.		0.567	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986	Intron	T	41610308	C	T	41610308	5	4	247	1	0	0	0	0	0	0	1	0	5283	811	28	2	933	2	ETV4	17	41610308	Splice_Site	SNP	C	TCGA-B2-4101-01A-02D-1458-08	36524519	41610308	39584902	30	14941											
PHLPP1	23239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	60497298	60497298	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr18:60497298G>A	ENST00000262719.5	+	2	1841	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R24Q			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	536	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.R536Q(2)|p.R23Q(1)		endometrium(2)|kidney(2)|lung(13)	17						AGCTCTGAACGGATTCAGCTC	0.448																																																3	Substitution - Missense(3)	kidney(3)											81	76	78					18																	60497298		1953	4154	6107	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1607G>A	18.37:g.60497298G>A	ENSP00000262719:p.Arg536Gln		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	37	5.997339	0.97184	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.34667	1.35;1.35	5.08	5.08	0.68730	Pleckstrin homology domain (1);	.	.	.	.	T	0.56949	0.2020	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50482	-0.8823	9	0.33141	T	0.24	-18.6612	18.6526	0.91435	0.0:0.0:1.0:0.0	.	536	O60346	PHLP1_HUMAN	Q	24;536	ENSP00000383170:R24Q;ENSP00000262719:R536Q	ENSP00000262719:R536Q	R	+	2	0	PHLPP1	58648278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.637000	0.89404	0.555000	0.69702	CGG		0.448	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		A	60497298	G	A	60497298	3	1	247	1	0	0	0	0	1	0	0	0	11856	1116	39	1	1613	1	PHLPP1	18	60497298	Missense_Mutation	SNP	G	TCGA-B2-4101-01A-02D-1458-08		60497298	17579950	31	14942											
KIAA1543	57662	broad.mit.edu;hgsc.bcm.edu	37	19	7677733	7677733	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr19:7677733G>T	ENST00000160298.4	+	11	2455	c.2354G>T	c.(2353-2355)cGg>cTg	p.R785L	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.R812L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	785	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.R812L(2)|p.R785L(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AAACACACGCGGCCAGCGGAG	0.736																																																3	Substitution - Missense(3)	kidney(3)											7	9	9					19																	7677733		1855	3973	5828	SO:0001583	missense	0			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2354G>T	19.37:g.7677733G>T	ENSP00000160298:p.Arg785Leu		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	18.11	3.550854	0.65311	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.34275	1.38;1.37	5.21	5.21	0.72293	.	0.209146	0.43110	D	0.000611	T	0.61912	0.2385	M	0.76727	2.345	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65216	-0.6222	10	0.62326	D	0.03	-14.1274	17.5159	0.87773	0.0:0.0:1.0:0.0	.	785;812	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	L	812;785	ENSP00000416797:R812L;ENSP00000160298:R785L	ENSP00000160298:R785L	R	+	2	0	KIAA1543	7583733	1.000000	0.71417	0.945000	0.38365	0.145000	0.21501	4.206000	0.58473	2.436000	0.82500	0.551000	0.68910	CGG		0.736	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		T	7677733	G	T	7677733	3	4	247	1	0	0	0	0	1	0	0	0	8245	1116	39	4	2485	4	KIAA1543	19	7677733	Missense_Mutation	SNP	G	TCGA-B2-4101-01A-02D-1458-08		7677733	51451250	32	14943											
AKT2	208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40742002	40742002	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr19:40742002C>G	ENST00000392038.2	-	11	1268	c.970G>C	c.(970-972)Gac>Cac	p.D324H	AKT2_ENST00000311278.6_Missense_Mutation_p.D281H|AKT2_ENST00000424901.1_Missense_Mutation_p.D324H|AKT2_ENST00000579047.1_Missense_Mutation_p.D262H	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.D324H(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TAGTCATTGTCCTCCAGCACC	0.632			A		"ovarian, pancreatic "																																		Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	1	Substitution - Missense(1)	kidney(1)											73	58	63					19																	40742002		2203	4300	6503	SO:0001583	missense	208			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.970G>C	19.37:g.40742002C>G	ENSP00000375892:p.Asp324His		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293050	0.95546	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.25749	1.78;1.78;1.78	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042391	0.85682	D	0.000000	T	0.36276	0.0961	L	0.27944	0.81	0.80722	D	1	B;P;D	0.61080	0.329;0.612;0.989	B;P;P	0.58577	0.363;0.551;0.841	T	0.11179	-1.0598	10	0.87932	D	0	.	18.5101	0.90913	0.0:1.0:0.0:0.0	.	262;281;324	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	H	324;225;324;281;144	ENSP00000375892:D324H;ENSP00000399532:D324H;ENSP00000309428:D281H	ENSP00000309428:D281H	D	-	1	0	AKT2	45433842	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.773000	0.85462	2.674000	0.91012	0.561000	0.74099	GAC		0.632	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		G	40742002	C	G	40742002	3	3	247	1	0	0	0	0	1	0	0	0	480	855	30	4	491	4	AKT2	19	40742002	Missense_Mutation	SNP	C	TCGA-B2-4101-01A-02D-1458-08	33064269	40742002	18386981	33	14944											
SEC23B	10483	hgsc.bcm.edu;ucsc.edu	37	20	18492907	18492908	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr20:18492907_18492908delTC	ENST00000336714.3	+	3	692_693	c.260_261delTC	c.(259-261)ttcfs	p.F87fs	SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000377465.1_Frame_Shift_Del_p.F87fs|SEC23B_ENST00000262544.2_Frame_Shift_Del_p.F87fs|SEC23B_ENST00000377475.3_Frame_Shift_Del_p.F87fs	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	87					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GCCTGTAATTTCTGTTTTCAAA	0.228																																																0																																										SO:0001589	frameshift_variant	10483			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.260_261delTC	20.37:g.18492907_18492908delTC	ENSP00000338844:p.Phe87fs		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Frame_Shift_Del	DEL	ENST00000336714.3	37	CCDS13137.1																																																																																				0.228	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			-	18492908	TC	-	18492907	7	5	247	1	0	1	0	1	0	0	0	0	13998	1783	62	0	266	0	SEC23B	20	18492907	Frame_Shift_Del	DEL	TC	TCGA-B2-4101-01A-02D-1458-08		18492907	44532613	34	14945											
NCOA6	23054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33328813	33328813	+	Silent	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr20:33328813C>A	ENST00000374796.2	-	12	7817	c.5247G>T	c.(5245-5247)acG>acT	p.T1749T	NCOA6_ENST00000359003.2_Silent_p.T1749T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1749	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.T1749T(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGAGAAGACGTACAAGGAG	0.532																																																1	Substitution - coding silent(1)	kidney(1)											85	87	86					20																	33328813		2203	4300	6503	SO:0001819	synonymous_variant	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5247G>T	20.37:g.33328813C>A			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																				0.532	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		A	33328813	C	A	33328813	2	1	247	1	0	0	0	0	0	0	0	1	10235	523	19	4		4	NCOA6	20	33328813	Silent	SNP	C	TCGA-B2-4101-01A-02D-1458-08	14835906	33328813	29696707	35	14946											
DMD	1756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	32834668	32834668	+	Silent	SNP	A	A	G			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chrX:32834668A>G	ENST00000357033.4	-	6	653	c.447T>C	c.(445-447)cgT>cgC	p.R149R	DMD_ENST00000378677.2_Silent_p.R145R|DMD_ENST00000288447.4_Silent_p.R141R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	149	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R149R(1)|p.R145R(1)|p.R144R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTGGATAATTACGAGTTGATT	0.413																																																3	Substitution - coding silent(3)	kidney(3)											165	142	149					X																	32834668		2202	4300	6502	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.447T>C	X.37:g.32834668A>G			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																				0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		G	32834668	A	G	32834668	2	3	247	1	0	0	0	0	0	0	0	1	4582	378	14	3		3	DMD	23	32834668	Silent	SNP	A	TCGA-B2-4101-01A-02D-1458-08		32834668	122435892	36	14947											
ZXDA	7789	hgsc.bcm.edu;ucsc.edu	37	X	57935826	57935828	+	In_Frame_Del	DEL	GGT	GGT	-	rs150800705	byFrequency	TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	GGT	GGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chrX:57935826_57935828delGGT	ENST00000358697.4	-	1	1239_1241	c.1027_1029delACC	c.(1027-1029)accdel	p.T343del		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	343	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGTTGTACACGGTGGTGAAGCTC	0.596																																																0																																										SO:0001651	inframe_deletion	7789			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1027_1029delACC	X.37:g.57935829_57935831delGGT	ENSP00000351530:p.Thr343del		Q9UJP7	In_Frame_Del	DEL	ENST00000358697.4	37	CCDS14376.1																																																																																				0.596	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		-	57935828	GGT	-	57935826	7	5	247	1	0	1	0	1	0	0	0	0	18255	1103	39	0	1374	0	ZXDA	23	57935826	In_Frame_Del	DEL	GGT	TCGA-B2-4101-01A-02D-1458-08	25101158	57935826	97334734	37	14948											
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10364568	10364568	+	Intron	SNP	T	T	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:10364568T>C	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377093.4_Silent_p.L1109L|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Silent_p.L1109L			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.L1109L(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAGGTCAGTTAGAGGGCAA	0.507																																																1	Substitution - coding silent(1)	kidney(1)											58	54	55					1																	10364568		2203	4300	6503	SO:0001627	intron_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7264T>C	1.37:g.10364568T>C			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37																																																																																					0.507	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			C	10364568	T	C	10364568	1	2	248	0	1	0	0	0	0	0	0	0	8286	1722	60	3		3	KIF1B	1	10364568	Intron	SNP	T	TCGA-B2-5633-01A-01D-1534-10		10364568	238886053	1	14949											
UBIAD1	29914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11333752	11333752	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:11333752C>A	ENST00000376810.5	+	1	490	c.164C>A	c.(163-165)cCc>cAc	p.P55H	UBIAD1_ENST00000376804.2_Missense_Mutation_p.P55H	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	55					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)	p.P55H(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GCCCTGAGGCCCTGGAGCTTC	0.657																																																1	Substitution - Missense(1)	kidney(1)											76	68	70					1																	11333752		2203	4300	6503	SO:0001583	missense	29914				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.164C>A	1.37:g.11333752C>A	ENSP00000366006:p.Pro55His		B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	CCDS129.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072130	0.93950	.	.	ENSG00000120942	ENST00000376810;ENST00000376804	D;D	0.97941	-4.62;-4.43	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99806	1.1038	10	0.87932	D	0	-3.2139	17.7165	0.88338	0.0:1.0:0.0:0.0	.	55	Q9Y5Z9	UBIA1_HUMAN	H	55	ENSP00000366006:P55H;ENSP00000366000:P55H	ENSP00000366000:P55H	P	+	2	0	UBIAD1	11256339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.214000	0.77958	2.484000	0.83849	0.453000	0.30009	CCC		0.657	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		A	11333752	C	A	11333752	3	1	248	1	0	0	0	0	1	0	0	0	16890	623	22	4	166	4	UBIAD1	1	11333752	Missense_Mutation	SNP	C	TCGA-B2-5633-01A-01D-1534-10	969184	11333752	237916869	2	14950											
EPS15	2060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	51887534	51887534	+	Intron	SNP	G	G	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:51887534G>C	ENST00000371733.3	-	13	1137				EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Intron|EPS15_ENST00000396122.4_Intron	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)|p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTTTTCCCTAGAAGACCAGCA	0.368			T	MLL	ALL																																		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(1)|Unknown(1)	kidney(1)|central_nervous_system(1)											131	114	119					1																	51887534		2202	4299	6501	SO:0001627	intron_variant	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1041-4C>G	1.37:g.51887534G>C			B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	CCDS557.1																																																																																				0.368	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		C	51887534	G	C	51887534	1	2	248	0	1	0	0	0	0	0	0	0	5194	942	33	4		4	EPS15	1	51887534	Intron	SNP	G	TCGA-B2-5633-01A-01D-1534-10	40553782	51887534	197363087	3	14951											
SLC35D1	23169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	67486082	67486082	+	Silent	SNP	A	A	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:67486082A>C	ENST00000235345.5	-	10	931	c.846T>G	c.(844-846)gcT>gcG	p.A282A	SLC35D1_ENST00000506472.2_Silent_p.A203A	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	282					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)	p.A282A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						TAGTTGTAAGAGCAGAATTAT	0.333																																																1	Substitution - coding silent(1)	kidney(1)											109	108	109					1																	67486082		2203	4300	6503	SO:0001819	synonymous_variant	23169			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.846T>G	1.37:g.67486082A>C			A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	CCDS636.1																																																																																				0.333	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		C	67486082	A	C	67486082	2	2	248	1	0	0	0	0	0	0	0	1	14587	291	11	5		5	SLC35D1	1	67486082	Silent	SNP	A	TCGA-B2-5633-01A-01D-1534-10	15598548	67486082	181764539	4	14952											
SLC6A17	388662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110740166	110740166	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:110740166G>T	ENST00000331565.4	+	11	2245	c.1760G>T	c.(1759-1761)aGc>aTc	p.S587I		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	587					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.S587I(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACCACAGCCAGCATCATCCAG	0.602											OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											43	40	41					1																	110740166		2202	4300	6502	SO:0001583	missense	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1760G>T	1.37:g.110740166G>T	ENSP00000330199:p.Ser587Ile	1429	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707890	0.68615	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75260	-0.92	5.03	5.03	0.67393	.	0.194497	0.52532	D	0.000067	D	0.85915	0.5808	M	0.87097	2.86	0.58432	D	0.999999	D	0.67145	0.996	D	0.68483	0.958	D	0.88479	0.3067	10	0.72032	D	0.01	.	17.957	0.89072	0.0:0.0:1.0:0.0	.	587	Q9H1V8	S6A17_HUMAN	I	587	ENSP00000330199:S587I	ENSP00000330199:S587I	S	+	2	0	SLC6A17	110541689	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	5.726000	0.68515	2.326000	0.78906	0.557000	0.71058	AGC		0.602	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		T	110740166	G	T	110740166	3	4	248	1	0	0	0	0	1	0	0	0	14686	971	34	4	1798	4	SLC6A17	1	110740166	Missense_Mutation	SNP	G	TCGA-B2-5633-01A-01D-1534-10	43254084	110740166	138510455	5	14953											
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu	37	1	144931293	144931293	+	Intron	SNP	T	T	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:144931293T>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.E139V|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E139V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E139V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACCCAGCACTCAAACCCTGA	0.582			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Substitution - Missense(1)	kidney(1)											150	147	148					1																	144931293		2203	4300	6503	SO:0001627	intron_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7472A>T	1.37:g.144931293T>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111768	0.77210	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.34859	1.34;1.38	5.3	5.3	0.74995	.	.	.	.	.	T	0.50205	0.1602	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57027	-0.7881	9	0.87932	D	0	.	13.1866	0.59684	0.0:0.0:0.0:1.0	.	139	Q5VU43-2	.	V	139	ENSP00000316434:E139V;ENSP00000433392:E139V	ENSP00000316434:E139V	E	-	2	0	PDE4DIP	143642650	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	8.040000	0.89188	1.996000	0.58369	0.379000	0.24179	GAG		0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144931293	T	A	144931293	1	1	248	0	1	0	0	0	0	0	0	0	11645	1551	54	5		5	PDE4DIP	1	144931293	Intron	SNP	T	TCGA-B2-5633-01A-01D-1534-10	34191127	144931293	104319328	6	14954											
DNM3	26052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171956945	171956945	+	Splice_Site	SNP	G	G	A	rs371617456		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:171956945G>A	ENST00000355305.5	+	3	542	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	DNM3_ENST00000520906.1_Splice_Site_p.V129M|DNM3_ENST00000367731.1_Splice_Site_p.V129M|DNM3_ENST00000367733.2_Splice_Site_p.V129M|DNM3_ENST00000358155.4_Splice_Site_p.V129M			Q9UQ16	DYN3_HUMAN	dynamin 3	129	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V129M(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTCCCCACACGGTAAGTAAAA	0.348																																																1	Substitution - Missense(1)	kidney(1)						G	MET/VAL,MET/VAL	0,3650		0,0,1825	96	101	99		385,385	5.3	1	1		99	1,8153		0,1,4076	no	missense-near-splice,missense-near-splice	DNM3	NM_001136127.1,NM_015569.3	21,21	0,1,5901	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging,probably-damaging	129/860,129/864	171956945	1,11803	1825	4077	5902	SO:0001630	splice_region_variant	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.385+1G>A	1.37:g.171956945G>A			A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	G	24.5	4.535248	0.85812	0.0	1.23E-4	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.27	5.27	0.74061	.	0.057000	0.64402	D	0.000001	D	0.98738	0.9576	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.99;1.0;0.999;1.0	P;D;D;D	0.71414	0.883;0.925;0.914;0.973	D	0.99679	1.0998	10	0.72032	D	0.01	.	17.4722	0.87649	0.0:0.0:1.0:0.0	.	129;129;129;129	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	M	129;129;129;129;129;129;19	ENSP00000350876:V129M;ENSP00000356707:V129M;ENSP00000347457:V129M;ENSP00000356705:V129M;ENSP00000429701:V129M;ENSP00000429416:V19M	ENSP00000347457:V129M	V	+	1	0	DNM3	170223568	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.731000	0.98807	2.455000	0.83008	0.655000	0.94253	GTG		0.348	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	Missense_Mutation	A	171956945	G	A	171956945	5	1	248	1	0	0	0	0	0	0	1	0	4675	1130	39	1	395	1	DNM3	1	171956945	Splice_Site	SNP	G	TCGA-B2-5633-01A-01D-1534-10	27025652	171956945	77293676	7	14955											
IARS2	55699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	220316404	220316404	+	Silent	SNP	C	C	T	rs113314730		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr1:220316404C>T	ENST00000302637.5	+	21	2783	c.2679C>T	c.(2677-2679)atC>atT	p.I893I	IARS2_ENST00000467924.1_3'UTR|IARS2_ENST00000366922.1_Silent_p.I821I	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	893					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.I893I(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TTGGAAGCATCCCTGGCAAAA	0.438																																																1	Substitution - coding silent(1)	kidney(1)											152	142	146					1																	220316404		2203	4300	6503	SO:0001819	synonymous_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2679C>T	1.37:g.220316404C>T			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	37	CCDS1523.1																																																																																				0.438	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		T	220316404	C	T	220316404	2	4	248	1	0	0	0	0	0	0	0	1	7476	845	30	2		2	IARS2	1	220316404	Silent	SNP	C	TCGA-B2-5633-01A-01D-1534-10	48359459	220316404	28934217	8	14956											
IL18RAP	8807	hgsc.bcm.edu;ucsc.edu	37	2	103067362	103067362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr2:103067362delG	ENST00000264260.2	+	11	1854	c.1265delG	c.(1264-1266)agtfs	p.S422fs	IL18RAP_ENST00000409369.1_Frame_Shift_Del_p.S280fs	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	422	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TCTTTTCCAAGTGAGGCCACT	0.348																																																0													108	118	114					2																	103067362		2203	4300	6503	SO:0001589	frameshift_variant	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1265delG	2.37:g.103067362delG	ENSP00000264260:p.Ser422fs		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Frame_Shift_Del	DEL	ENST00000264260.2	37	CCDS2061.1																																																																																				0.348	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		-	103067362	G	-	103067362	7	5	248	1	0	1	0	1	0	0	0	0	7650	1029	36	0	1299	0	IL18RAP	2	103067362	Frame_Shift_Del	DEL	G	TCGA-B2-5633-01A-01D-1534-10		103067362	140132011	9	14957											
TNS1	7145	broad.mit.edu;ucsc.edu	37	2	218713396	218713396	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr2:218713396C>G	ENST00000171887.4	-	17	1921	c.1469G>C	c.(1468-1470)gGg>gCg	p.G490A	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Missense_Mutation_p.G490A|TNS1_ENST00000419504.1_Missense_Mutation_p.G490A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	490					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.G490A(1)|p.G615A(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGCTAACGCCCCACCATTGAC	0.612																																																2	Substitution - Missense(2)	kidney(2)											84	79	80					2																	218713396		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1469G>C	2.37:g.218713396C>G	ENSP00000171887:p.Gly490Ala		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	0.362	-0.938601	0.02340	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93247	-2.66;-2.66;-2.66;-3.19	4.84	3.96	0.45880	.	1.197720	0.05666	N	0.587797	D	0.86715	0.5999	N	0.22421	0.69	0.09310	N	0.999998	B;B;B;B;B	0.10296	0.003;0.003;0.002;0.0;0.0	B;B;B;B;B	0.10450	0.004;0.005;0.004;0.002;0.002	T	0.74047	-0.3790	10	0.16420	T	0.52	.	4.4619	0.11669	0.0:0.5908:0.1772:0.232	.	490;544;490;490;490	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	A	490;490;490;615	ENSP00000171887:G490A;ENSP00000408724:G490A;ENSP00000406016:G490A;ENSP00000405460:G615A	ENSP00000171887:G490A	G	-	2	0	TNS1	218421641	0.006000	0.16342	0.380000	0.26093	0.080000	0.17528	0.307000	0.19296	1.398000	0.46701	0.561000	0.74099	GGG		0.612	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218713396	C	G	218713396	3	3	248	1	0	0	0	0	1	0	0	0	16348	623	22	4	3806	4	TNS1	2	218713396	Missense_Mutation	SNP	C	TCGA-B2-5633-01A-01D-1534-10	115646034	218713396	24485977	10	14958											
SEMA3G	56920	broad.mit.edu;ucsc.edu	37	3	52472210	52472210	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr3:52472210C>T	ENST00000231721.2	-	14	1514	c.1515G>A	c.(1513-1515)atG>atA	p.M505I		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	505	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.M505I(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCACGTATAGCATTTGCTGGG	0.652																																																1	Substitution - Missense(1)	kidney(1)											21	23	22					3																	52472210		2202	4299	6501	SO:0001583	missense	56920				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1515G>A	3.37:g.52472210C>T	ENSP00000231721:p.Met505Ile		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869335	0.32977	.	.	ENSG00000010319	ENST00000231721	T	0.21031	2.03	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.520411	0.22147	N	0.063974	T	0.23766	0.0575	L	0.46157	1.445	0.24854	N	0.992383	B	0.18013	0.025	B	0.20184	0.028	T	0.10132	-1.0643	10	0.44086	T	0.13	.	18.3691	0.90401	0.0:1.0:0.0:0.0	.	505	Q9NS98	SEM3G_HUMAN	I	505	ENSP00000231721:M505I	ENSP00000231721:M505I	M	-	3	0	SEMA3G	52447250	0.053000	0.20554	0.999000	0.59377	0.316000	0.28119	0.446000	0.21694	2.574000	0.86865	0.655000	0.94253	ATG		0.652	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		T	52472210	C	T	52472210	3	4	248	1	0	0	0	0	1	0	0	0	14036	710	25	2	845	2	SEMA3G	3	52472210	Missense_Mutation	SNP	C	TCGA-B2-5633-01A-01D-1534-10		52472210	145550220	11	14959											
GAP43	2596	broad.mit.edu;ucsc.edu	37	3	115394971	115394971	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr3:115394971A>G	ENST00000305124.6	+	2	508	c.142A>G	c.(142-144)Agg>Ggg	p.R48G	GAP43_ENST00000393780.3_Missense_Mutation_p.R84G	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	48	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R48G(1)|p.R84G(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ACACATAACAAGGAAAAAGCT	0.453																																																2	Substitution - Missense(2)	kidney(2)											95	96	96					3																	115394971		2203	4300	6503	SO:0001583	missense	2596				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.142A>G	3.37:g.115394971A>G	ENSP00000305010:p.Arg48Gly		A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732332	0.69189	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.65732	-0.17;-0.17	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	M	0.90198	3.095	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86500	0.1803	10	0.87932	D	0	-11.3686	14.9547	0.71104	1.0:0.0:0.0:0.0	.	84;48	A8K0Y4;P17677	.;NEUM_HUMAN	G	48;84	ENSP00000305010:R48G;ENSP00000377372:R84G	ENSP00000305010:R48G	R	+	1	2	GAP43	116877661	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.357000	0.73051	2.171000	0.68590	0.533000	0.62120	AGG		0.453	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		G	115394971	A	G	115394971	3	3	248	1	0	0	0	0	1	0	0	0	6237	63	3	3	290	3	GAP43	3	115394971	Missense_Mutation	SNP	A	TCGA-B2-5633-01A-01D-1534-10	62922761	115394971	82627459	12	14960											
DHX36	170506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	154018911	154018911	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr3:154018911A>T	ENST00000496811.1	-	10	1303	c.1223T>A	c.(1222-1224)gTt>gAt	p.V408D	DHX36_ENST00000329463.5_Missense_Mutation_p.V408D|DHX36_ENST00000544526.1_Missense_Mutation_p.V408D|DHX36_ENST00000308361.6_Missense_Mutation_p.V408D	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	408					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.V408D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTGTTCTGGAACATACCTAAA	0.289																																																1	Substitution - Missense(1)	kidney(1)											65	67	66					3																	154018911		2203	4298	6501	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1223T>A	3.37:g.154018911A>T	ENSP00000417078:p.Val408Asp		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.639702	0.29157	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.89	3.58	0.41010	.	0.849906	0.11034	N	0.606925	T	0.12944	0.0314	L	0.43701	1.375	0.44508	D	0.997459	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.13407	0.009;0.009;0.004	T	0.05801	-1.0863	10	0.33940	T	0.23	.	9.6936	0.40143	0.8552:0.0:0.1448:0.0	.	408;408;408	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	D	408;408;408;408;322	ENSP00000417078:V408D;ENSP00000309296:V408D;ENSP00000444247:V408D;ENSP00000330113:V408D;ENSP00000419862:V322D	ENSP00000309296:V408D	V	-	2	0	DHX36	155501605	0.884000	0.30299	1.000000	0.80357	0.962000	0.63368	0.559000	0.23485	2.250000	0.74265	0.455000	0.32223	GTT		0.289	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		T	154018911	A	T	154018911	3	4	248	1	0	0	0	0	1	0	0	0	4511	43	2	5	1867	5	DHX36	3	154018911	Missense_Mutation	SNP	A	TCGA-B2-5633-01A-01D-1534-10	38623940	154018911	44003519	13	14961											
ATP13A5	344905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	193039503	193039503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr3:193039503C>A	ENST00000342358.4	-	16	1999	c.1882G>T	c.(1882-1884)Gaa>Taa	p.E628*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	628						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E628*(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCCACCATTTCTGGGGCACCT	0.443																																																1	Substitution - Nonsense(1)	kidney(1)											77	75	76					3																	193039503		2203	4300	6503	SO:0001587	stop_gained	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1882G>T	3.37:g.193039503C>A	ENSP00000341942:p.Glu628*		Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	41	8.960551	0.99018	.	.	ENSG00000187527	ENST00000342358	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.1569	18.6639	0.91481	0.0:1.0:0.0:0.0	.	.	.	.	X	628	.	ENSP00000341942:E628X	E	-	1	0	ATP13A5	194522197	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	7.353000	0.79414	2.760000	0.94817	0.655000	0.94253	GAA		0.443	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		A	193039503	C	A	193039503	4	1	248	1	0	0	0	0	0	1	0	0	1127	922	32	4	1832	4	ATP13A5	3	193039503	Nonsense_Mutation	SNP	C	TCGA-B2-5633-01A-01D-1534-10	39020592	193039503	4982927	14	14962											
TLR10	81793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	38776455	38776455	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr4:38776455C>T	ENST00000308973.4	-	4	1362	c.757G>A	c.(757-759)Gat>Aat	p.D253N	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.D253N|TLR10_ENST00000361424.2_Missense_Mutation_p.D253N|TLR10_ENST00000508334.1_Missense_Mutation_p.D253N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	253					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.D253N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CAGAGTAAATCAACTTTATTA	0.348																																																1	Substitution - Missense(1)	kidney(1)											65	64	64					4																	38776455		2203	4300	6503	SO:0001583	missense	81793			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.757G>A	4.37:g.38776455C>T	ENSP00000308925:p.Asp253Asn		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167516	0.38315	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.04	2.19	0.27852	.	0.147809	0.29660	N	0.011528	T	0.74160	0.3680	L	0.55834	1.745	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.62238	-0.6896	10	0.41790	T	0.15	.	4.317	0.10998	0.1541:0.5427:0.0:0.3032	.	253	Q9BXR5	TLR10_HUMAN	N	253	ENSP00000308925:D253N;ENSP00000421483:D253N;ENSP00000354459:D253N;ENSP00000424923:D253N	ENSP00000308925:D253N	D	-	1	0	TLR10	38452850	0.000000	0.05858	0.997000	0.53966	0.811000	0.45836	-0.497000	0.06428	1.109000	0.41680	0.591000	0.81541	GAT		0.348	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			T	38776455	C	T	38776455	3	4	248	1	0	0	0	0	1	0	0	0	15955	826	29	2	1682	2	TLR10	4	38776455	Missense_Mutation	SNP	C	TCGA-B2-5633-01A-01D-1534-10		38776455	152377821	15	14963											
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85758222	85758222	+	Missense_Mutation	SNP	T	T	C	rs201745590		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr4:85758222T>C	ENST00000295888.4	-	7	843	c.436A>G	c.(436-438)Aca>Gca	p.T146A	WDFY3_ENST00000322366.6_Missense_Mutation_p.T146A	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	146					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.T146A(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTGACATTGTTGTCATGCAG	0.398																																																1	Substitution - Missense(1)	kidney(1)											69	64	66					4																	85758222		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.436A>G	4.37:g.85758222T>C	ENSP00000295888:p.Thr146Ala		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588745	0.28357	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.10960	2.82;2.82	5.76	5.76	0.90799	.	0.098076	0.64402	D	0.000002	T	0.02418	0.0074	N	0.00159	-1.955	0.80722	D	1	B;B	0.17852	0.024;0.011	B;B	0.14023	0.01;0.007	T	0.43653	-0.9378	10	0.05351	T	0.99	.	16.0697	0.80914	0.0:0.0:0.0:1.0	.	146;146	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	A	146	ENSP00000318466:T146A;ENSP00000295888:T146A	ENSP00000295888:T146A	T	-	1	0	WDFY3	85977246	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.884000	0.87274	2.190000	0.69967	0.374000	0.22700	ACA		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		C	85758222	T	C	85758222	3	2	248	1	0	0	0	0	1	0	0	0	17275	1725	60	3	10435	3	WDFY3	4	85758222	Missense_Mutation	SNP	T	TCGA-B2-5633-01A-01D-1534-10	46981767	85758222	105396054	16	14964											
NMUR2	56923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	151784061	151784061	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr5:151784061G>A	ENST00000255262.3	-	1	779	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	205					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.T205M(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTTGATGACCGTACAGGTGGC	0.542																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)											173	166	169					5																	151784061		2203	4300	6503	SO:0001583	missense	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.614C>T	5.37:g.151784061G>A	ENSP00000255262:p.Thr205Met		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	4.452	0.083741	0.08533	.	.	ENSG00000132911	ENST00000255262	T	0.38077	1.16	5.44	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.370788	0.28198	N	0.016226	T	0.28134	0.0694	L	0.45698	1.435	0.09310	N	1	P	0.40398	0.716	B	0.35655	0.207	T	0.10337	-1.0634	10	0.45353	T	0.12	0.2937	9.1507	0.36962	0.0759:0.0:0.767:0.1571	.	205	Q9GZQ4	NMUR2_HUMAN	M	205	ENSP00000255262:T205M	ENSP00000255262:T205M	T	-	2	0	NMUR2	151764254	0.998000	0.40836	0.001000	0.08648	0.057000	0.15508	4.073000	0.57570	0.622000	0.30249	-0.237000	0.12165	ACG		0.542	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		A	151784061	G	A	151784061	3	1	248	1	0	0	0	0	1	0	0	0	10509	1145	40	1	649	1	NMUR2	5	151784061	Missense_Mutation	SNP	G	TCGA-B2-5633-01A-01D-1534-10		151784061	29131199	17	14965											
FAM114A2	10827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	153372626	153372626	+	Silent	SNP	G	G	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr5:153372626G>C	ENST00000351797.4	-	14	1504	c.1428C>G	c.(1426-1428)ctC>ctG	p.L476L	FAM114A2_ENST00000522858.1_Silent_p.L476L|FAM114A2_ENST00000518946.1_5'UTR|FAM114A2_ENST00000520313.1_Silent_p.L406L|FAM114A2_ENST00000520667.1_Silent_p.L476L	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	476							purine nucleotide binding (GO:0017076)	p.L476L(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GCACAGGTAAGAGTAGCTGAA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											118	112	114					5																	153372626		2203	4300	6503	SO:0001819	synonymous_variant	10827			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 3"	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1428C>G	5.37:g.153372626G>C			B2R8D8|Q9H7E0	Silent	SNP	ENST00000351797.4	37	CCDS4323.1																																																																																				0.398	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		C	153372626	G	C	153372626	2	2	248	1	0	0	0	0	0	0	0	1	5406	929	33	4		4	FAM114A2	5	153372626	Silent	SNP	G	TCGA-B2-5633-01A-01D-1534-10	1588565	153372626	27542634	18	14966											
LARP1	23367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154183854	154183854	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr5:154183854A>T	ENST00000336314.4	+	14	2326	c.2302A>T	c.(2302-2304)Act>Tct	p.T768S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	845					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.T845S(1)|p.T768S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGCCCCGTACTGCTTCCAT	0.547																																																2	Substitution - Missense(2)	kidney(2)											105	104	104					5																	154183854		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2302A>T	5.37:g.154183854A>T	ENSP00000336721:p.Thr768Ser		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.91|18.91	3.722838|3.722838	0.68959|0.68959	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000336314|ENST00000522272	T|.	0.23552|.	1.9|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.089561|.	0.85682|.	D|.	0.000000|.	T|T	0.70613|0.70613	0.3244|0.3244	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	B;P|.	0.40302|.	0.402;0.712|.	B;B|.	0.38683|.	0.145;0.279|.	T|T	0.67829|0.67829	-0.5569|-0.5569	10|5	0.31617|.	T|.	0.26|.	-12.5135|-12.5135	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	845;768|.	Q6PKG0;Q6PKG0-3|.	LARP1_HUMAN;.|.	S|F	768|25	ENSP00000336721:T768S|.	ENSP00000336721:T768S|.	T|Y	+|+	1|2	0|0	LARP1|LARP1	154164047|154164047	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.370000|7.370000	0.79589|0.79589	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ACT|TAC		0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		T	154183854	A	T	154183854	3	4	248	1	0	0	0	0	1	0	0	0	8630	391	14	5	2356	5	LARP1	5	154183854	Missense_Mutation	SNP	A	TCGA-B2-5633-01A-01D-1534-10	811228	154183854	26731406	19	14967											
CCDC99	54908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	169028336	169028336	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr5:169028336T>A	ENST00000265295.4	+	11	1656	c.1377T>A	c.(1375-1377)gaT>gaA	p.D459E		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.D459E(1)									TCCCTGTGGATATAACCACCG	0.453																																																1	Substitution - Missense(1)	kidney(1)											98	101	100					5																	169028336		2203	4300	6503	SO:0001583	missense	0			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1377T>A	5.37:g.169028336T>A	ENSP00000265295:p.Asp459Glu			Missense_Mutation	SNP	ENST00000265295.4	37	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472142	0.43942	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.33865	1.39	5.77	4.61	0.57282	.	0.051587	0.64402	D	0.000001	T	0.43033	0.1229	L	0.50333	1.59	0.27561	N	0.950194	B;D;D	0.55385	0.208;0.971;0.971	B;P;P	0.57244	0.063;0.816;0.816	T	0.26258	-1.0108	10	0.15952	T	0.53	-19.1534	9.566	0.39398	0.0:0.1412:0.0:0.8588	.	381;360;459	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	E	459;360	ENSP00000265295:D459E	ENSP00000265295:D459E	D	+	3	2	CCDC99	168960914	0.467000	0.25831	0.874000	0.34290	0.484000	0.33280	0.609000	0.24238	1.012000	0.39366	0.529000	0.55759	GAT		0.453	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		A	169028336	T	A	169028336	3	1	248	1	0	0	0	0	1	0	0	0	2878	1403	49	5	1415	5	CCDC99	5	169028336	Missense_Mutation	SNP	T	TCGA-B2-5633-01A-01D-1534-10	14844482	169028336	11886924	20	14968											
MUC21	394263	hgsc.bcm.edu	37	6	30955191	30955211	+	In_Frame_Del	DEL	GTCCAGTGGGGCCAGCACTGC	GTCCAGTGGGGCCAGCACTGC	-	rs2429294|rs56582998|rs56644482|rs2429293|rs2508018|rs56557913|rs2429292|rs56572740|rs55803740	byFrequency	TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	GTCCAGTGGGGCCAGCACTGC	GTCCAGTGGGGCCAGCACTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr6:30955191_30955211delGTCCAGTGGGGCCAGCACTGC	ENST00000376296.3	+	2	1480_1500	c.1239_1259delGTCCAGTGGGGCCAGCACTGC	c.(1237-1260)gtgtccagtggggccagcactgcc>gtc	p.SSGASTA414del	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	414	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAGCACAGTGTCCAGTGGGGCCAGCACTGCCACCAATTCT	0.62																																																0																																										SO:0001651	inframe_deletion	394263			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1239_1259delGTCCAGTGGGGCCAGCACTGC	6.37:g.30955191_30955211delGTCCAGTGGGGCCAGCACTGC	ENSP00000365473:p.Ser414_Ala420del		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	In_Frame_Del	DEL	ENST00000376296.3	37	CCDS34388.1																																																																																				0.62	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		-	30955211	GTCCAGTGGGGCCAGCACTGC	-	30955191	7	5	248	1	0	1	0	1	0	0	0	0	9979	1364	48	0	1245	0	MUC21	6	30955191	In_Frame_Del	DEL	GTCCAGTGGGGCCAGCACTGC	TCGA-B2-5633-01A-01D-1534-10		30955191	140159876	21	14969											
ROS1	6098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	117609777	117609777	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr6:117609777C>G	ENST00000368508.3	-	43	7120	c.6922G>C	c.(6922-6924)Gaa>Caa	p.E2308Q	ROS1_ENST00000368507.3_Missense_Mutation_p.E2302Q	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2308					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E2308Q(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATGTGGTTCCTTCTCTTCT	0.483			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	2	Substitution - Missense(2)	kidney(2)											113	112	112					6																	117609777		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6922G>C	6.37:g.117609777C>G	ENSP00000357494:p.Glu2308Gln		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	9.343	1.063639	0.20067	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70869	-0.51;-0.52	4.5	2.67	0.31697	.	0.477423	0.17720	N	0.164296	T	0.18299	0.0439	N	0.08118	0	0.23640	N	0.997225	B	0.15141	0.012	B	0.10450	0.005	T	0.28776	-1.0033	10	0.08381	T	0.77	.	4.018	0.09652	0.0:0.563:0.2109:0.2261	.	2308	P08922	ROS1_HUMAN	Q	2308;2302	ENSP00000357494:E2308Q;ENSP00000357493:E2302Q	ENSP00000357493:E2302Q	E	-	1	0	ROS1	117716470	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.987000	0.29603	0.494000	0.27859	0.563000	0.77884	GAA		0.483	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			G	117609777	C	G	117609777	3	3	248	1	0	0	0	0	1	0	0	0	13537	864	30	4	125	4	ROS1	6	117609777	Missense_Mutation	SNP	C	TCGA-B2-5633-01A-01D-1534-10	86654586	117609777	53505290	22	14970											
CENPW	387103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	126667412	126667412	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr6:126667412G>C	ENST00000368328.4	+	2	288	c.188G>C	c.(187-189)tGt>tCt	p.C63S	CENPW_ENST00000368326.1_Missense_Mutation_p.V50L|CENPW_ENST00000368325.1_Missense_Mutation_p.C78S			Q5EE01	CENPW_HUMAN	centromere protein W	63					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C63S(1)		kidney(2)|large_intestine(1)|lung(3)	6						ACAAACGCTTGTGCGAGTAAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											120	114	116					6																	126667412		2203	4300	6503	SO:0001583	missense	387103			BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"cancer-upregulated gene 2"	611264	"chromosome 6 open reading frame 173"	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.188G>C	6.37:g.126667412G>C	ENSP00000357311:p.Cys63Ser		A6NIR0|A6NJC2	Missense_Mutation	SNP	ENST00000368328.4	37	CCDS34529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.467679|1.467679	0.26335|0.26335	.|.	.|.	ENSG00000203760|ENSG00000203760	ENST00000368325;ENST00000368328|ENST00000368326	T|.	0.20463|.	2.07|.	5.61|5.61	3.64|3.64	0.41730|0.41730	Histone-fold (1);|.	0.327933|.	0.22516|.	N|.	0.059022|.	T|T	0.45756|0.45756	0.1358|0.1358	.|.	.|.	.|.	0.32808|0.32808	D|D	0.501076|0.501076	B|.	0.14012|.	0.009|.	B|.	0.12156|.	0.007|.	T|T	0.51236|0.51236	-0.8731|-0.8731	9|5	0.48119|0.87932	T|D	0.1|0	-11.33|-11.33	10.2052|10.2052	0.43109|0.43109	0.0:0.0:0.5621:0.4379|0.0:0.0:0.5621:0.4379	.|.	63|.	Q5EE01|.	CENPW_HUMAN|.	S|L	78;63|50	ENSP00000357311:C63S|.	ENSP00000357308:C78S|ENSP00000357309:V50L	C|V	+|+	2|1	0|0	CENPW|CENPW	126709105|126709105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.849000|0.849000	0.48306|0.48306	1.522000|1.522000	0.35921|0.35921	1.344000|1.344000	0.45657|0.45657	0.563000|0.563000	0.77884|0.77884	TGT|GTG		0.368	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			C	126667412	G	C	126667412	3	2	248	1	0	0	0	0	1	0	0	0	3246	1377	48	4	194	4	CENPW	6	126667412	Missense_Mutation	SNP	G	TCGA-B2-5633-01A-01D-1534-10	9057635	126667412	44447655	23	14971											
OR2A4	79541	hgsc.bcm.edu	37	6	132021904	132021904	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr6:132021904A>G	ENST00000315453.2	-	1	731	c.638T>C	c.(637-639)aTt>aCt	p.I213T	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	213					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		TGAAACTACAATTGTGGACAA	0.493																																																0													14	19	17					6																	132021904		1785	4239	6024	SO:0001583	missense	79541			AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"GPCR / Class A : Olfactory receptors"	14729	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 10"	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.638T>C	6.37:g.132021904A>G	ENSP00000319546:p.Ile213Thr		Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	ENST00000315453.2	37	CCDS5149.1	.	.	.	.	.	.	.	.	.	.	-	9.323	1.058623	0.19987	.	.	ENSG00000180658	ENST00000315453	T	0.00309	8.16	1.79	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.432511	0.16964	U	0.192418	T	0.00073	0.0002	L	0.50847	1.595	0.27130	N	0.961926	B	0.16603	0.018	B	0.25140	0.058	T	0.43637	-0.9379	10	0.66056	D	0.02	.	4.1376	0.10178	0.7977:0.0:0.2023:0.0	.	213	O95047	OR2A4_HUMAN	T	213	ENSP00000319546:I213T	ENSP00000319546:I213T	I	-	2	0	OR2A4	132063597	0.232000	0.23762	0.013000	0.15412	0.000000	0.00434	4.450000	0.60041	0.873000	0.35799	0.000000	0.15137	ATT		0.493	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1	NM_030908		G	132021904	A	G	132021904	3	3	248	1	0	0	0	0	1	0	0	0	10981	101	4	3	297	3	OR2A4	6	132021904	Missense_Mutation	SNP	A	TCGA-B2-5633-01A-01D-1534-10	5354492	132021904	39093163	24	14972											
LRWD1	222229	broad.mit.edu	37	7	102108803	102108803	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr7:102108803T>A	ENST00000292616.5	+	7	1050	c.898T>A	c.(898-900)Ttc>Atc	p.F300I	MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	300					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.F300I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGCCTGTGCCTTCGAGCCGGC	0.672																																																1	Substitution - Missense(1)	kidney(1)											23	26	25					7																	102108803		2201	4294	6495	SO:0001583	missense	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.898T>A	7.37:g.102108803T>A	ENSP00000292616:p.Phe300Ile		A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705598	0.68615	.	.	ENSG00000161036	ENST00000292616	T	0.74315	-0.83	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85053	0.5609	M	0.74467	2.265	0.58432	D	0.999995	D	0.76494	0.999	D	0.80764	0.994	D	0.86752	0.1961	10	0.66056	D	0.02	0.7953	14.1185	0.65172	0.0:0.0:0.0:1.0	.	300	Q9UFC0	LRWD1_HUMAN	I	300	ENSP00000292616:F300I	ENSP00000292616:F300I	F	+	1	0	LRWD1	101895808	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	6.990000	0.76225	2.117000	0.64856	0.459000	0.35465	TTC		0.672	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		A	102108803	T	A	102108803	3	1	248	1	0	0	0	0	1	0	0	0	9049	1609	56	5	924	5	LRWD1	7	102108803	Missense_Mutation	SNP	T	TCGA-B2-5633-01A-01D-1534-10		102108803	57029860	25	14973											
MLL3	58508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151873651	151873651	+	Missense_Mutation	SNP	G	G	A	rs187761353		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr7:151873651G>A	ENST00000262189.6	-	38	9105	c.8887C>T	c.(8887-8889)Cgt>Tgt	p.R2963C	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2963C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2963					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R2963C(2)									TCCAAAACACGGCCAGGCGGT	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21084	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)						G	CYS/ARG	0,4406		0,0,2203	43	47	45		8887	5.6	0.4	7		45	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MLL3	NM_170606.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2963/4912	151873651	1,13005	2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8887C>T	7.37:g.151873651G>A	ENSP00000262189:p.Arg2963Cys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	10.70|10.70	1.423870|1.423870	0.25639|0.25639	0.0|0.0	1.16E-4|1.16E-4	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.83673	.|-1.75;-1.75	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.682462	.|0.12695	.|N	.|0.446809	T|T	0.70386|0.70386	0.3218|0.3218	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.49447	.|0.705;0.924;0.924	.|B;B;B	.|0.36885	.|0.01;0.235;0.235	T|T	0.76854|0.76854	-0.2805|-0.2805	5|10	.|0.62326	.|D	.|0.03	.|.	19.5508|19.5508	0.95319|0.95319	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2963;2024;2963	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	L|C	468|2963	.|ENSP00000262189:R2963C;ENSP00000347325:R2963C	.|ENSP00000262189:R2963C	P|R	-|-	2|1	0|0	MLL3|MLL3	151504584|151504584	0.993000|0.993000	0.37304|0.37304	0.420000|0.420000	0.26596|0.26596	0.747000|0.747000	0.42532|0.42532	5.524000|5.524000	0.67105|0.67105	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151873651	G	A	151873651	3	1	248	1	0	0	0	0	1	0	0	0	9624	1116	39	1	5936	1	MLL3	7	151873651	Missense_Mutation	SNP	G	TCGA-B2-5633-01A-01D-1534-10	49764848	151873651	7265012	26	14974											
GDF6	392255	broad.mit.edu	37	8	97172667	97172668	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr8:97172667_97172668insA	ENST00000287020.5	-	1	352_353	c.253_254insT	c.(253-255)ccgfs	p.P85fs		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	85					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCTGCCTGGCGGCTCCTGCGCC	0.688																																																0																																										SO:0001589	frameshift_variant	392255				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.253_254insT	8.37:g.97172667_97172668insA	ENSP00000287020:p.Pro85fs		Q6PI58	Frame_Shift_Ins	INS	ENST00000287020.5	37	CCDS34926.1																																																																																				0.688	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		A	97172668	-	A	97172667	7	5	248	1	0	1	1	0	0	0	0	0	6319	1116	39	0	1121	0	GDF6	8	97172667	Frame_Shift_Ins	INS	-	TCGA-B2-5633-01A-01D-1534-10		97172667	49191355	27	14975											
OR52A5	390054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5152922	5152922	+	Splice_Site	SNP	T	T	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr11:5152922T>C	ENST00000307388.1	-	1	950	c.951A>G	c.(949-951)tgA>tgG	p.*317W		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	0					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)	p.*317W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCACTAACGATCAAGTTACTT	0.348																																																1	Nonstop extension(1)	kidney(1)											56	55	55					11																	5152922		2201	4298	6499	SO:0001630	splice_region_variant	390054			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.948+1A>G	11.37:g.5152922T>C				Missense_Mutation	SNP	ENST00000307388.1	37	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292839	0.23564	.	.	ENSG00000171944	ENST00000307388	.	.	.	4.6	0.975	0.19721	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4996	0.02474	0.1406:0.1657:0.1453:0.5483	.	.	.	.	W	317	.	.	X	-	3	0	OR52A5	5109498	0.003000	0.15002	0.003000	0.11579	0.006000	0.05464	-0.260000	0.08708	0.000000	0.14550	-0.250000	0.11733	TGA		0.348	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160	Nonstop_Mutation	C	5152922	T	C	5152922	5	2	248	1	0	0	0	0	0	0	1	0	11112	1450	50	3	2	3	OR52A5	11	5152922	Splice_Site	SNP	T	TCGA-B2-5633-01A-01D-1534-10		5152922	129853594	28	14976											
IGSF22	283284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18738324	18738324	+	Silent	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr11:18738324G>A	ENST00000513874.1	-	10	1336	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	399								p.F399F(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCTCAGCAGAGAACTCGCCGC	0.542																																																2	Substitution - coding silent(2)	kidney(2)											138	136	137					11																	18738324		2001	4171	6172	SO:0001819	synonymous_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1197C>T	11.37:g.18738324G>A			A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	CCDS41625.2																																																																																				0.542	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		A	18738324	G	A	18738324	2	1	248	1	0	0	0	0	0	0	0	1	7602	933	33	2		2	IGSF22	11	18738324	Silent	SNP	G	TCGA-B2-5633-01A-01D-1534-10	13585402	18738324	116268192	29	14977											
SLC15A3	51296	broad.mit.edu;ucsc.edu	37	11	60709588	60709588	+	Silent	SNP	A	A	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr11:60709588A>C	ENST00000227880.3	-	4	1259	c.1026T>G	c.(1024-1026)ctT>ctG	p.L342L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	342					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.L342L(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TGTGGAGGTGAAGACCCTGCA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											193	172	179					11																	60709588		2203	4299	6502	SO:0001819	synonymous_variant	51296			AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1026T>G	11.37:g.60709588A>C			Q9P2X9	Silent	SNP	ENST00000227880.3	37	CCDS7998.1																																																																																				0.577	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		C	60709588	A	C	60709588	2	2	248	1	0	0	0	0	0	0	0	1	14406	233	9	5		5	SLC15A3	11	60709588	Silent	SNP	A	TCGA-B2-5633-01A-01D-1534-10	41971264	60709588	74296928	30	14978											
NEU3	10825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	74717078	74717078	+	Silent	SNP	A	A	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr11:74717078A>T	ENST00000544263.1	+	4	998	c.828A>T	c.(826-828)ccA>ccT	p.P276P	NEU3_ENST00000529024.1_Intron|NEU3_ENST00000294064.4_Silent_p.P309P|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000545272.1_Silent_p.P200P|NEU3_ENST00000531509.1_Silent_p.P309P			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	276					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.P309P(2)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GTGAGCCCCCACATGGTTGCC	0.597																																																2	Substitution - coding silent(2)	kidney(2)											46	49	48					11																	74717078		1962	4145	6107	SO:0001819	synonymous_variant	10825			AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.828A>T	11.37:g.74717078A>T			A8K327|Q9NQE1	Silent	SNP	ENST00000544263.1	37																																																																																					0.597	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_006656		T	74717078	A	T	74717078	2	4	248	1	0	0	0	0	0	0	0	1	10345	146	6	5		5	NEU3	11	74717078	Silent	SNP	A	TCGA-B2-5633-01A-01D-1534-10	14007490	74717078	60289438	31	14979											
HIST4H4	121504	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14923794	14923794	+	Silent	SNP	C	C	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr12:14923794C>T	ENST00000539745.1	-	1	271	c.225G>A	c.(223-225)gaG>gaA	p.E75E	HIST4H4_ENST00000541592.1_5'Flank|RP11-174G6.5_ENST00000562691.2_RNA	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	75					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.E75E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						GCTTGGCGTGCTCCGTGTAAG	0.602											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											105	87	93					12																	14923794		2203	4300	6503	SO:0001819	synonymous_variant	121504			AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"Histones / Replication-dependent"	20510	protein-coding gene	gene with protein product		615069	"histone 4, H4"			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.225G>A	12.37:g.14923794C>T		698	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000539745.1	37	CCDS8665.1																																																																																				0.602	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054		T	14923794	C	T	14923794	2	4	248	1	0	0	0	0	0	0	0	1	7187	796	28	2		2	HIST4H4	12	14923794	Silent	SNP	C	TCGA-B2-5633-01A-01D-1534-10		14923794	118928101	32	14980											
CHFR	55743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133454165	133454165	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr12:133454165C>T	ENST00000432561.2	-	3	282	c.209G>A	c.(208-210)gGt>gAt	p.G70D	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Missense_Mutation_p.G70D|CHFR_ENST00000266880.7_Missense_Mutation_p.G70D|CHFR_ENST00000450056.2_Missense_Mutation_p.G70D|CHFR_ENST00000443047.2_Missense_Mutation_p.G70D			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	70	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G70D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TGTCACCTGACCTGATTTTTC	0.453																																																2	Substitution - Missense(2)	kidney(2)											143	131	135					12																	133454165		2203	4300	6503	SO:0001583	missense	55743			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.209G>A	12.37:g.133454165C>T	ENSP00000392395:p.Gly70Asp		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196553	0.94960	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000432561;ENST00000540963	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.46	5.46	0.80206	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	L	0.38733	1.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	D	0.91742	0.5405	10	0.72032	D	0.01	-28.4254	19.4053	0.94646	0.0:1.0:0.0:0.0	.	70;70;70;70;70	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	D	70	ENSP00000320557:G70D;ENSP00000416431:G70D;ENSP00000398735:G70D;ENSP00000266880:G70D;ENSP00000392395:G70D;ENSP00000441837:G70D	ENSP00000266880:G70D	G	-	2	0	CHFR	131964238	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.873000	0.75541	2.579000	0.87056	0.558000	0.71614	GGT		0.453	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			T	133454165	C	T	133454165	3	4	248	1	0	0	0	0	1	0	0	0	3339	507	18	2	1946	2	CHFR	12	133454165	Missense_Mutation	SNP	C	TCGA-B2-5633-01A-01D-1534-10	118530371	133454165	397730	33	14981											
FARP1	10160	broad.mit.edu;ucsc.edu	37	13	99083480	99083480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr13:99083480G>T	ENST00000319562.6	+	18	2354	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	FARP1_ENST00000595437.1_Nonsense_Mutation_p.E697*|FARP1_ENST00000376586.2_Nonsense_Mutation_p.E697*	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	697	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E697*(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCAGGTCCTGGAGCGGCTGTG	0.622																																																2	Substitution - Nonsense(2)	kidney(2)											18	18	18					13																	99083480		2202	4300	6502	SO:0001587	stop_gained	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2089G>T	13.37:g.99083480G>T	ENSP00000322926:p.Glu697*		Q5JVI9|Q6IQ29	Nonsense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	45	11.605384	0.99582	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	.	.	.	5.58	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.3189	0.66470	0.0715:0.0:0.9285:0.0	.	.	.	.	X	697	.	ENSP00000322926:E697X	E	+	1	0	FARP1	97881481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.531000	0.81973	1.345000	0.45676	0.555000	0.69702	GAG		0.622	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		T	99083480	G	T	99083480	4	4	248	1	0	0	0	0	0	1	0	0	5678	1175	41	4	2378	4	FARP1	13	99083480	Nonsense_Mutation	SNP	G	TCGA-B2-5633-01A-01D-1534-10		99083480	16086398	34	14982											
NFAT5	10725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69725994	69725995	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr16:69725994_69725995TC>AA	ENST00000354436.2	+	12	2530_2531	c.2212_2213TC>AA	c.(2212-2214)TCa>AAa	p.S738K	NFAT5_ENST00000349945.1_Missense_Mutation_p.S662K|NFAT5_ENST00000567239.1_Missense_Mutation_p.S755K|NFAT5_ENST00000432919.1_Missense_Mutation_p.S756K|NFAT5_ENST00000566899.1_Missense_Mutation_p.S662K|NFAT5_ENST00000393742.2_Missense_Mutation_p.S662K	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	738					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S662T(1)|p.S756*(1)|p.S756T(1)|p.S662*(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GACTGAGGCATCACAACAACAG	0.411																																																4	Substitution - Missense(2)|Substitution - Nonsense(2)	kidney(4)																																								SO:0001583	missense	10725			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	Exception_encountered	16.37:g.69725994_69725995delinsAA	ENSP00000346420:p.Ser738Lys		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1																																																																																				0.411	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		AA	69725995	TC	AA	69725994	3	1	248	1	0	0	0	0	1	0	0	0	10362	1435	50	5	2316	5	NFAT5	16	69725994	Missense_Mutation	DNP	TC	TCGA-B2-5633-01A-01D-1534-10		69725994	20628759	35	14983											
LAMA3	3909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	21417039	21417039	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr18:21417039G>A	ENST00000313654.9	+	25	3320	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T	LAMA3_ENST00000399516.3_Missense_Mutation_p.A1027T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1027	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.A1027T(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGGACACATGGCCCGATTCCT	0.433																																																1	Substitution - Missense(1)	kidney(1)											92	92	92					18																	21417039		2053	4214	6267	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3079G>A	18.37:g.21417039G>A	ENSP00000324532:p.Ala1027Thr		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	8.973	0.973463	0.18736	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.19105	2.19;2.17	5.92	5.92	0.95590	.	.	.	.	.	T	0.22360	0.0539	M	0.62723	1.935	0.28431	N	0.917259	B;B	0.31680	0.198;0.335	B;B	0.28139	0.041;0.086	T	0.14227	-1.0480	9	0.48119	T	0.1	.	9.213	0.37331	0.1204:0.0:0.8796:0.0	.	1027;1027	Q6VU67;Q16787	.;LAMA3_HUMAN	T	1027;1027;1025	ENSP00000324532:A1027T;ENSP00000382432:A1027T	ENSP00000324532:A1027T	A	+	1	0	LAMA3	19671037	0.073000	0.21202	0.510000	0.27712	0.011000	0.07611	2.423000	0.44705	2.818000	0.97014	0.655000	0.94253	GCC		0.433	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		A	21417039	G	A	21417039	3	1	248	1	0	0	0	0	1	0	0	0	8609	1203	42	2	3177	2	LAMA3	18	21417039	Missense_Mutation	SNP	G	TCGA-B2-5633-01A-01D-1534-10		21417039	56660209	36	14984											
FCGBP	8857	broad.mit.edu	37	19	40383839	40383840	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr19:40383839_40383840insGT	ENST00000221347.6	-	21	9777_9778	c.9770_9771insAC	c.(9769-9771)ctcfs	p.L3257fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3257						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGATGGCAGGAGGCCACACAC	0.668																																																0																																										SO:0001589	frameshift_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9770_9771insAC	19.37:g.40383839_40383840insGT	ENSP00000221347:p.Leu3257fs		O95784	Frame_Shift_Ins	INS	ENST00000221347.6	37	CCDS12546.1																																																																																				0.668	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		GT	40383840	-	GT	40383839	7	5	248	1	0	1	1	0	0	0	0	0	5780	1161	41	0	6510	0	FCGBP	19	40383839	Frame_Shift_Ins	INS	-	TCGA-B2-5633-01A-01D-1534-10		40383839	18745144	37	14985											
TEAD2	8463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49852034	49852034	+	Missense_Mutation	SNP	G	G	A	rs369344041		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr19:49852034G>A	ENST00000311227.2	-	8	751	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	TEAD2_ENST00000539846.1_Missense_Mutation_p.R93W|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000601519.1_Missense_Mutation_p.R224W|TEAD2_ENST00000593945.1_Missense_Mutation_p.R225W|TEAD2_ENST00000377214.4_Missense_Mutation_p.R224W|TEAD2_ENST00000598810.1_Missense_Mutation_p.R225W	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	221	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R221W(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCCAGGCCCCGAGCCTGCCAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		10084	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	TRP/ARG	1,4401		0,1,2200	23	28	27		661	3.5	1	19		27	0,8590		0,0,4295	no	missense	TEAD2	NM_003598.1	101	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	221/448	49852034	1,12991	2201	4295	6496	SO:0001583	missense	8463			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.661C>T	19.37:g.49852034G>A	ENSP00000310701:p.Arg221Trp		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544185	0.45280	2.27E-4	0.0	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.64085	0.08;0.09;-0.08	5.64	3.45	0.39498	.	0.000000	0.64402	D	0.000012	T	0.77772	0.4180	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.975;0.999;0.957	T	0.79303	-0.1859	10	0.87932	D	0	-31.7224	10.9754	0.47463	0.0:0.141:0.7125:0.1466	.	93;221;224	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	W	221;224;93	ENSP00000310701:R221W;ENSP00000366419:R224W;ENSP00000437928:R93W	ENSP00000310701:R221W	R	-	1	2	TEAD2	54543846	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	3.515000	0.53429	0.822000	0.34565	-0.274000	0.10170	CGG		0.587	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		A	49852034	G	A	49852034	3	1	248	1	0	0	0	0	1	0	0	0	15744	1057	37	1	702	1	TEAD2	19	49852034	Missense_Mutation	SNP	G	TCGA-B2-5633-01A-01D-1534-10	9468195	49852034	9276949	38	14986											
KLK3	354	broad.mit.edu	37	19	51361427	51361427	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr19:51361427T>C	ENST00000326003.2	+	3	390	c.349T>C	c.(349-351)Tcc>Ccc	p.S117P	KLK3_ENST00000360617.3_Missense_Mutation_p.S117P|KLK3_ENST00000597483.1_Missense_Mutation_p.S74P|KLK3_ENST00000595952.1_Missense_Mutation_p.S74P|KLK3_ENST00000593997.1_Missense_Mutation_p.S117P	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	117	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S117P(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		AGGTGATGACTCCAGCCACGA	0.597																																					Colon(185;1767 2023 13025 30120 37630)											2	Substitution - Missense(2)	kidney(2)											87	71	76					19																	51361427		2203	4300	6503	SO:0001583	missense	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.349T>C	19.37:g.51361427T>C	ENSP00000314151:p.Ser117Pro		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711653	0.30322	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000326052	T;T	0.06294	3.32;3.32	2.31	-4.63	0.03359	.	0.994006	0.08146	N	0.990812	T	0.04724	0.0128	N	0.10809	0.05	0.09310	N	0.999999	P;P;P	0.52577	0.829;0.954;0.795	P;P;B	0.49953	0.625;0.627;0.3	T	0.17899	-1.0354	10	0.66056	D	0.02	.	4.5853	0.12279	0.4748:0.3487:0.0:0.1765	.	117;117;74	Q8NCW4;G3XAE3;G3V0H4	.;.;.	P	117;74;117;117	ENSP00000314151:S117P;ENSP00000353829:S117P	ENSP00000314151:S117P	S	+	1	0	KLK3	56053239	0.010000	0.17322	0.000000	0.03702	0.012000	0.07955	0.000000	0.12993	-1.899000	0.01098	-0.672000	0.03802	TCC		0.597	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		C	51361427	T	C	51361427	3	2	248	1	0	0	0	0	1	0	0	0	8407	1551	54	3	363	3	KLK3	19	51361427	Missense_Mutation	SNP	T	TCGA-B2-5633-01A-01D-1534-10	1509393	51361427	7767556	39	14987											
RASSF2	9770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	4776560	4776560	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr20:4776560C>T	ENST00000379400.3	-	5	383	c.188G>A	c.(187-189)cGc>cAc	p.R63H	RASSF2_ENST00000379376.2_Missense_Mutation_p.R63H|RASSF2_ENST00000478553.1_5'Flank	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	63					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R63H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AATGGGCCGGCGCAGGCCCCA	0.597																																					Melanoma(158;1891 3343 50738)											1	Substitution - Missense(1)	kidney(1)											82	81	81					20																	4776560		2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.188G>A	20.37:g.4776560C>T	ENSP00000368710:p.Arg63His		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255664	0.80135	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.30448	1.53;1.53	5.13	5.13	0.70059	.	0.162098	0.53938	D	0.000041	T	0.33265	0.0857	M	0.79011	2.435	0.80722	D	1	P	0.42556	0.783	B	0.29353	0.101	T	0.45190	-0.9278	10	0.56958	D	0.05	.	17.3318	0.87267	0.0:1.0:0.0:0.0	.	63	P50749	RASF2_HUMAN	H	63	ENSP00000368710:R63H;ENSP00000368684:R63H	ENSP00000368684:R63H	R	-	2	0	RASSF2	4724560	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.353000	0.79414	2.665000	0.90641	0.563000	0.77884	CGC		0.597	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		T	4776560	C	T	4776560	3	4	248	1	0	0	0	0	1	0	0	0	13092	768	27	1	824	1	RASSF2	20	4776560	Missense_Mutation	SNP	C	TCGA-B2-5633-01A-01D-1534-10		4776560	58248960	40	14988											
GDF5	8200	broad.mit.edu;ucsc.edu	37	20	34021789	34021789	+	Missense_Mutation	SNP	C	C	T	rs121909347		TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr20:34021789C>T	ENST00000374372.1	-	4	1927	c.1424G>A	c.(1423-1425)aGc>aAc	p.S475N	GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Missense_Mutation_p.S475N			P43026	GDF5_HUMAN	growth differentiation factor 5	475			S -> N (in SYNS2). {ECO:0000269|Ref.11}.		cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)	p.S475N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GAAGAGGATGCTGATGGGACT	0.577																																																1	Substitution - Missense(1)	kidney(1)											122	107	112					20																	34021789		2203	4300	6503	SO:0001583	missense	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1424G>A	20.37:g.34021789C>T	ENSP00000363492:p.Ser475Asn		E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401952	0.83120	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	D;D	0.89875	-2.58;-2.58	4.68	4.68	0.58851	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.79805	2.47	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95333	0.8431	9	0.87932	D	0	.	17.7696	0.88487	0.0:1.0:0.0:0.0	.	475;475	F1T0J1;P43026	.;GDF5_HUMAN	N	475	ENSP00000363489:S475N;ENSP00000363492:S475N	ENSP00000363489:S475N	S	-	2	0	GDF5	33485203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.639000	0.83342	2.401000	0.81631	0.555000	0.69702	AGC		0.577	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			T	34021789	C	T	34021789	3	4	248	1	0	0	0	0	1	0	0	0	6318	797	28	2	85	2	GDF5	20	34021789	Missense_Mutation	SNP	C	TCGA-B2-5633-01A-01D-1534-10	29245229	34021789	29003731	41	14989											
RBM39	9584	hgsc.bcm.edu	37	20	34320047	34320047	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr20:34320047T>C	ENST00000253363.6	-	4	135	c.112A>G	c.(112-114)Agc>Ggc	p.S38G	RBM39_ENST00000361162.6_Missense_Mutation_p.S38G|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Missense_Mutation_p.S38G			Q14498	RBM39_HUMAN	RNA binding motif protein 39	38					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTGCTCTTGCTTTTTTTCCTC	0.398																																																0													122	113	116					20																	34320047		2203	4300	6503	SO:0001583	missense	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.112A>G	20.37:g.34320047T>C	ENSP00000253363:p.Ser38Gly		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	t	18.69	3.679031	0.68042	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927	T;T;T;T;T;T	0.43688	1.01;1.01;0.94;3.4;1.72;1.01	5.9	5.9	0.94986	.	0.036917	0.85682	N	0.000000	T	0.39279	0.1072	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.29037	0.139;0.139;0.218;0.139;0.231	B;B;B;B;B	0.27715	0.037;0.037;0.082;0.037;0.037	T	0.15521	-1.0434	10	0.23891	T	0.37	.	16.336	0.83060	0.0:0.0:0.0:1.0	.	38;38;38;38;14	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	G	38	ENSP00000253363:S38G;ENSP00000354437:S38G;ENSP00000436747:S38G;ENSP00000363150:S38G;ENSP00000406801:S38G;ENSP00000393493:S38G	ENSP00000253363:S38G	S	-	1	0	RBM39	33783461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.781000	0.68964	2.252000	0.74401	0.529000	0.55759	AGC		0.398	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		C	34320047	T	C	34320047	3	2	248	1	0	0	0	0	1	0	0	0	13139	1609	56	3	1536	3	RBM39	20	34320047	Missense_Mutation	SNP	T	TCGA-B2-5633-01A-01D-1534-10	298258	34320047	28705473	42	14990											
TOP1	7150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39744972	39744972	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr20:39744972G>A	ENST00000361337.2	+	17	2012	c.1762G>A	c.(1762-1764)Gta>Ata	p.V588I	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	588					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.V588I(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	GACAGCCAAGGTATTCCGTAC	0.478			T	NUP98	AML*																																		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	1	Substitution - Missense(1)	kidney(1)											109	90	97					20																	39744972		2203	4300	6503	SO:0001583	missense	7150				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1762G>A	20.37:g.39744972G>A	ENSP00000354522:p.Val588Ile		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	36	5.957191	0.97145	.	.	ENSG00000198900	ENST00000361337	T	0.47528	0.84	6.17	6.17	0.99709	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80803	0.4693	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84956	0.0874	10	0.66056	D	0.02	-14.5816	20.8794	0.99867	0.0:0.0:1.0:0.0	.	588	P11387	TOP1_HUMAN	I	588	ENSP00000354522:V588I	ENSP00000354522:V588I	V	+	1	0	TOP1	39178386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GTA		0.478	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			A	39744972	G	A	39744972	3	1	248	1	0	0	0	0	1	0	0	0	16368	1261	44	2	1828	2	TOP1	20	39744972	Missense_Mutation	SNP	G	TCGA-B2-5633-01A-01D-1534-10	5424925	39744972	23280548	43	14991											
ZC3H7B	23264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	41742095	41742095	+	Silent	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr22:41742095G>A	ENST00000352645.4	+	14	1805	c.1548G>A	c.(1546-1548)cgG>cgA	p.R516R	ZC3H7B_ENST00000351589.4_Silent_p.R516R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	532					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R516R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCGAGGAGCGGAAGGGCACCC	0.597																																																1	Substitution - coding silent(1)	kidney(1)											189	151	164					22																	41742095		2203	4300	6503	SO:0001819	synonymous_variant	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1548G>A	22.37:g.41742095G>A			A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	CCDS14013.1																																																																																				0.597	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		A	41742095	G	A	41742095	2	1	248	1	0	0	0	0	0	0	0	1	17578	1161	41	2		2	ZC3H7B	22	41742095	Silent	SNP	G	TCGA-B2-5633-01A-01D-1534-10		41742095	9562471	44	14992											
PACSIN2	11252	broad.mit.edu;hgsc.bcm.edu	37	22	43287181	43287181	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chr22:43287181C>G	ENST00000263246.3	-	4	426	c.225G>C	c.(223-225)caG>caC	p.Q75H	PACSIN2_ENST00000403744.3_Missense_Mutation_p.Q75H|PACSIN2_ENST00000407585.1_Missense_Mutation_p.Q75H|PACSIN2_ENST00000337959.4_Missense_Mutation_p.Q75H|PACSIN2_ENST00000402229.1_Missense_Mutation_p.Q75H	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	75	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.Q75H(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CGGTCCCGTACTGGGGCCCTG	0.617																																																1	Substitution - Missense(1)	kidney(1)											30	30	30					22																	43287181		2041	4206	6247	SO:0001583	missense	11252			AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"syndapin II"	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.225G>C	22.37:g.43287181C>G	ENSP00000263246:p.Gln75His		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	37	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608965	0.66558	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336	T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	4.63	3.61	0.41365	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.39522	-0.9610	10	0.72032	D	0.01	-1.2686	11.2349	0.48933	0.0:0.8567:0.0:0.1433	.	75;75	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	H	75	ENSP00000263246:Q75H;ENSP00000338379:Q75H;ENSP00000385952:Q75H;ENSP00000385372:Q75H;ENSP00000385040:Q75H;ENSP00000398573:Q75H;ENSP00000396816:Q75H;ENSP00000403435:Q75H	ENSP00000263246:Q75H	Q	-	3	2	PACSIN2	41617125	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	1.577000	0.36515	2.572000	0.86782	0.542000	0.68232	CAG		0.617	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		G	43287181	C	G	43287181	3	3	248	1	0	0	0	0	1	0	0	0	11377	564	20	4	1267	4	PACSIN2	22	43287181	Missense_Mutation	SNP	C	TCGA-B2-5633-01A-01D-1534-10	1545086	43287181	8017385	45	14993											
SHROOM4	57477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	50556989	50556989	+	Silent	SNP	G	G	A			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chrX:50556989G>A	ENST00000289292.7	-	1	313	c.30C>T	c.(28-30)taC>taT	p.Y10Y	SHROOM4_ENST00000376020.2_Silent_p.Y10Y			Q9ULL8	SHRM4_HUMAN	shroom family member 4	10	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.Y10Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCACAGGGACGTACTGGAAGG	0.662																																																1	Substitution - coding silent(1)	kidney(1)											36	35	35					X																	50556989		2200	4299	6499	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.30C>T	X.37:g.50556989G>A			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																				0.662	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		A	50556989	G	A	50556989	2	1	248	1	0	0	0	0	0	0	0	1	14302	1140	40	1		1	SHROOM4	23	50556989	Silent	SNP	G	TCGA-B2-5633-01A-01D-1534-10		50556989	104713571	46	14994											
UBL4A	8266	broad.mit.edu	37	X	153714611	153714611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B2-5633-01A-01D-1534-10	TCGA-B2-5633-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d84b133-d6fd-403e-a514-4640f8db7e64	e00d5adc-97fe-4157-9bc9-ff9bfab2b43a	g.chrX:153714611delG	ENST00000369660.4	-	2	195	c.110delC	c.(109-111)ccafs	p.P37fs	UBL4A_ENST00000369653.4_Frame_Shift_Del_p.P37fs|UBL4A_ENST00000477777.1_5'Flank	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	37	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCGCACTGGGACGTTCAG	0.706																																					Esophageal Squamous(74;88 1215 11149 34177 46777)											0													13	10	11					X																	153714611		2148	4204	6352	SO:0001589	frameshift_variant	8266			J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"ubiquitin-like 4"	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.110delC	X.37:g.153714611delG	ENSP00000358674:p.Pro37fs		Q5HY80	Frame_Shift_Del	DEL	ENST00000369660.4	37	CCDS14754.1																																																																																				0.706	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2	NM_014235		-	153714611	G	-	153714611	7	5	248	1	0	1	0	1	0	0	0	0	16892	1348	47	0	375	0	UBL4A	23	153714611	Frame_Shift_Del	DEL	G	TCGA-B2-5633-01A-01D-1534-10	103157622	153714611	1555949	47	14995											
CHD5	26038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	6214898	6214898	+	Silent	SNP	A	A	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr1:6214898A>C	ENST00000262450.3	-	5	666	c.567T>G	c.(565-567)ggT>ggG	p.G189G	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G189G(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCACTTGGCACCCAGGACGG	0.637																																																1	Substitution - coding silent(1)	kidney(1)											57	60	59					1																	6214898		2203	4300	6503	SO:0001819	synonymous_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.567T>G	1.37:g.6214898A>C			A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																				0.637	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		C	6214898	A	C	6214898	2	2	249	1	0	0	0	0	0	0	0	1	3330	146	6	5		5	CHD5	1	6214898	Silent	SNP	A	TCGA-B2-5635-01A-01D-1534-10		6214898	243035723	1	14996											
AKR7A3	22977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19611597	19611597	+	Silent	SNP	A	A	G	rs569591525	byFrequency	TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr1:19611597A>G	ENST00000361640.4	-	4	1059	c.519T>C	c.(517-519)aaT>aaC	p.N173N		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	173					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)	p.N173N(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGATGGCATTGTACATGC	0.542													G|||	3	0.000599042	0.0	0.0	5008	,	,		16956	0.0		0.0	False		,,,				2504	0.0031															1	Substitution - coding silent(1)	kidney(1)											63	65	65					1																	19611597		2199	4300	6499	SO:0001819	synonymous_variant	22977			AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"Aldo-keto reductases"	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.519T>C	1.37:g.19611597A>G			Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Silent	SNP	ENST00000361640.4	37	CCDS193.1																																																																																				0.542	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		G	19611597	A	G	19611597	2	3	249	1	0	0	0	0	0	0	0	1	476	214	8	3		3	AKR7A3	1	19611597	Silent	SNP	A	TCGA-B2-5635-01A-01D-1534-10	13396699	19611597	229639024	2	14997											
KTI12	112970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	52498994	52498994	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr1:52498994G>A	ENST00000371614.1	-	1	494	c.440C>T	c.(439-441)gCg>gTg	p.A147V	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	147							ATP binding (GO:0005524)	p.A147V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GCTGCTGCCCGCCGCCTGGGC	0.652																																																1	Substitution - Missense(1)	kidney(1)											43	49	47					1																	52498994		2203	4300	6503	SO:0001583	missense	112970				CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.440C>T	1.37:g.52498994G>A	ENSP00000360676:p.Ala147Val			Missense_Mutation	SNP	ENST00000371614.1	37	CCDS562.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374287	0.24857	.	.	ENSG00000198841	ENST00000371614	T	0.43294	0.95	4.25	-1.45	0.08828	.	.	.	.	.	T	0.16685	0.0401	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.23084	-1.0198	9	0.17832	T	0.49	.	0.7678	0.01018	0.2971:0.1631:0.3727:0.167	.	147	Q96EK9	KTI12_HUMAN	V	147	ENSP00000360676:A147V	ENSP00000360676:A147V	A	-	2	0	KTI12	52271582	0.003000	0.15002	0.000000	0.03702	0.094000	0.18550	0.224000	0.17738	-0.064000	0.13043	0.655000	0.94253	GCG		0.652	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		A	52498994	G	A	52498994	3	1	249	1	0	0	0	0	1	0	0	0	8586	1087	38	1	628	1	KTI12	1	52498994	Missense_Mutation	SNP	G	TCGA-B2-5635-01A-01D-1534-10	32887397	52498994	196751627	3	14998											
COPA	1314	hgsc.bcm.edu;ucsc.edu	37	1	160267213	160267220	+	Frame_Shift_Del	DEL	TCCTTTCT	TCCTTTCT	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	TCCTTTCT	TCCTTTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr1:160267213_160267220delTCCTTTCT	ENST00000241704.7	-	21	2405_2412	c.2176_2183delAGAAAGGA	c.(2176-2184)agaaaggacfs	p.RKD726fs	COPA_ENST00000368069.3_Frame_Shift_Del_p.RKD735fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	726					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCACTCATGTCCTTTCTGATCTCAGCT	0.481																																																0																																										SO:0001589	frameshift_variant	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2176_2183delAGAAAGGA	1.37:g.160267213_160267220delTCCTTTCT	ENSP00000241704:p.Arg726fs		Q5T201|Q8IXZ9	Frame_Shift_Del	DEL	ENST00000241704.7	37	CCDS1202.1																																																																																				0.481	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		-	160267220	TCCTTTCT	-	160267213	7	5	249	1	0	1	0	1	0	0	0	0	3729	1667	58	0	1543	0	COPA	1	160267213	Frame_Shift_Del	DEL	TCCTTTCT	TCGA-B2-5635-01A-01D-1534-10	107768219	160267213	88983408	4	14999											
CR1	1378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207685001	207685001	+	Splice_Site	SNP	T	T	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr1:207685001T>A	ENST00000367049.4	+	4	487		c.e4+2		CR1_ENST00000367051.1_Splice_Site|CR1_ENST00000367053.1_Splice_Site|CR1_ENST00000367052.1_Splice_Site|CR1_ENST00000400960.2_Splice_Site|CR1_ENST00000367050.4_Splice_Site	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)						complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGTGACAGtgagttgaaat	0.373																																																2	Unknown(2)	kidney(2)											177	161	166					1																	207685001		1934	4131	6065	SO:0001630	splice_region_variant	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.487+2T>A	1.37:g.207685001T>A			Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Splice_Site	SNP	ENST00000367049.4	37	CCDS44308.1																																																																																				0.373	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	Intron	A	207685001	T	A	207685001	5	1	249	1	0	0	0	0	0	0	1	0	3842	1710	59	5	503	5	CR1	1	207685001	Splice_Site	SNP	T	TCGA-B2-5635-01A-01D-1534-10	47417788	207685001	41565620	5	15000											
PXDN	7837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1652347	1652347	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:1652347C>T	ENST00000252804.4	-	17	3255	c.3205G>A	c.(3205-3207)Gcc>Acc	p.A1069T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1069					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A1069T(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AACCTGAAGGCCGCGGTGGCG	0.597																																																1	Substitution - Missense(1)	kidney(1)											54	66	62					2																	1652347		2189	4280	6469	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3205G>A	2.37:g.1652347C>T	ENSP00000252804:p.Ala1069Thr		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735063	0.69189	.	.	ENSG00000130508	ENST00000252804	T	0.79845	-1.31	5.72	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.92254	0.7543	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94299	0.7535	10	0.87932	D	0	-37.893	16.2512	0.82489	0.1337:0.8663:0.0:0.0	.	1069	Q92626	PXDN_HUMAN	T	1069	ENSP00000252804:A1069T	ENSP00000252804:A1069T	A	-	1	0	PXDN	1631354	1.000000	0.71417	0.953000	0.39169	0.341000	0.28922	5.896000	0.69822	1.411000	0.46957	0.650000	0.86243	GCC		0.597	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		T	1652347	C	T	1652347	3	4	249	1	0	0	0	0	1	0	0	0	12853	739	26	2	1262	2	PXDN	2	1652347	Missense_Mutation	SNP	C	TCGA-B2-5635-01A-01D-1534-10		1652347	241547026	6	15001											
PDIA6	10130	broad.mit.edu;ucsc.edu	37	2	10924426	10924426	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:10924426G>A	ENST00000272227.3	-	13	1428	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	PDIA6_ENST00000404371.2_Silent_p.L479L|ATP6V1C2_ENST00000381661.3_3'UTR|PDIA6_ENST00000404824.2_Silent_p.L475L|PDIA6_ENST00000540494.1_Silent_p.L424L|PDIA6_ENST00000381611.4_Silent_p.L432L	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	427	Asp/Glu-rich (acidic).				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)	p.L427L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CCACATCACTGAGGTCAATGT	0.483																																					GBM(73;509 1219 34219 41343 41551)											1	Substitution - coding silent(1)	kidney(1)											111	99	103					2																	10924426		2203	4300	6503	SO:0001819	synonymous_variant	10130			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1281C>T	2.37:g.10924426G>A			B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	37	CCDS1675.1																																																																																				0.483	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		A	10924426	G	A	10924426	2	1	249	1	0	0	0	0	0	0	0	1	11674	1277	45	2		2	PDIA6	2	10924426	Silent	SNP	G	TCGA-B2-5635-01A-01D-1534-10	9272079	10924426	232274947	7	15002											
NBAS	51594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	15564514	15564514	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:15564514C>A	ENST00000281513.5	-	23	2527	c.2502G>T	c.(2500-2502)atG>atT	p.M834I	NBAS_ENST00000441750.1_Missense_Mutation_p.M834I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	834					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.M834I(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAAGCTGGGTCATCCTGAACC	0.483																																																1	Substitution - Missense(1)	kidney(1)											192	150	164					2																	15564514		2203	4300	6503	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2502G>T	2.37:g.15564514C>A	ENSP00000281513:p.Met834Ile		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.544|4.544	0.100932|0.100932	0.08731|0.08731	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000442506	T;T;T|.	0.21932|.	2.39;2.39;1.98|.	5.37|5.37	-10.7|-10.7	0.00240|0.00240	Secretory pathway Sec39 (1);|.	0.261333|.	0.43260|.	D|.	0.000589|.	T|.	0.12518|.	0.0304|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.11235|.	0.004;0.003|.	B;B|.	0.18561|.	0.009;0.022|.	T|.	0.12372|.	-1.0550|.	10|.	0.87932|.	D|.	0|.	.|.	7.517|7.517	0.27606|0.27606	0.1704:0.2945:0.4507:0.0844|0.1704:0.2945:0.4507:0.0844	.|.	834;834|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	I|L	834;834;1|2	ENSP00000413201:M834I;ENSP00000281513:M834I;ENSP00000396501:M1I|.	ENSP00000281513:M834I|.	M|X	-|-	3|2	0|2	NBAS|NBAS	15481965|15481965	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.206000|0.206000	0.24218|0.24218	-4.216000|-4.216000	0.00272|0.00272	-4.067000|-4.067000	0.00076|0.00076	-1.058000|-1.058000	0.02302|0.02302	ATG|TGA		0.483	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		A	15564514	C	A	15564514	3	1	249	1	0	0	0	0	1	0	0	0	10188	826	29	4	4733	4	NBAS	2	15564514	Missense_Mutation	SNP	C	TCGA-B2-5635-01A-01D-1534-10	4640088	15564514	227634859	8	15003											
PKP4	8502	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	159526361	159526361	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:159526361C>A	ENST00000389759.3	+	17	2970	c.2858C>A	c.(2857-2859)gCa>gAa	p.A953E	PKP4_ENST00000389757.3_Missense_Mutation_p.A953E|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	953					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.A953E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ATGGAGAACGCAAAAGCCCTG	0.592										HNSCC(62;0.18)																																						1	Substitution - Missense(1)	kidney(1)											48	48	48					2																	159526361		2203	4300	6503	SO:0001583	missense	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2858C>A	2.37:g.159526361C>A	ENSP00000374409:p.Ala953Glu		Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792567	0.96945	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.52295	0.67;0.67	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.91635	0.993;0.999;0.908	T	0.76748	-0.2845	10	0.87932	D	0	-12.3595	20.6244	0.99512	0.0:1.0:0.0:0.0	.	908;953;953	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	E	953	ENSP00000374407:A953E;ENSP00000374409:A953E	ENSP00000374407:A953E	A	+	2	0	PKP4	159234607	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.731000	0.84895	2.879000	0.98667	0.650000	0.86243	GCA		0.592	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			A	159526361	C	A	159526361	3	1	249	1	0	0	0	0	1	0	0	0	11989	710	25	4	2920	4	PKP4	2	159526361	Missense_Mutation	SNP	C	TCGA-B2-5635-01A-01D-1534-10	143961847	159526361	83673012	9	15004											
LRP2	4036	hgsc.bcm.edu	37	2	169989163	169989163	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:169989163T>C	ENST00000263816.3	-	77	13934	c.13649A>G	c.(13648-13650)aAg>aGg	p.K4550R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4550					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCCATAATTCTTATTATCCAC	0.388																																																0													128	125	126					2																	169989163		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13649A>G	2.37:g.169989163T>C	ENSP00000263816:p.Lys4550Arg		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.488046	0.26686	.	.	ENSG00000081479	ENST00000263816	D	0.89552	-2.53	5.94	0.906	0.19314	.	0.881078	0.10466	N	0.671382	T	0.73321	0.3572	N	0.14661	0.345	0.23227	N	0.998088	B	0.06786	0.001	B	0.01281	0.0	T	0.56866	-0.7908	10	0.16420	T	0.52	.	1.283	0.02045	0.2881:0.0867:0.1681:0.4572	.	4550	P98164	LRP2_HUMAN	R	4550	ENSP00000263816:K4550R	ENSP00000263816:K4550R	K	-	2	0	LRP2	169697409	0.889000	0.30405	0.537000	0.28052	0.971000	0.66376	0.703000	0.25646	0.489000	0.27749	-0.344000	0.07964	AAG		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	169989163	T	C	169989163	3	2	249	1	0	0	0	0	1	0	0	0	8958	1609	56	3	330	3	LRP2	2	169989163	Missense_Mutation	SNP	T	TCGA-B2-5635-01A-01D-1534-10	10462802	169989163	73210210	10	15005	118	2									
LRP2	4036	hgsc.bcm.edu;ucsc.edu	37	2	169989165	169989165	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:169989165delA	ENST00000263816.3	-	77	13932	c.13647delT	c.(13645-13647)aatfs	p.N4549fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4549					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CATAATTCTTATTATCCACAT	0.383																																																0													128	125	126					2																	169989165		2203	4300	6503	SO:0001589	frameshift_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13647delT	2.37:g.169989165delA	ENSP00000263816:p.Asn4549fs		O00711|Q16215	Frame_Shift_Del	DEL	ENST00000263816.3	37	CCDS2232.1																																																																																				0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		-	169989165	A	-	169989165	7	5	249	1	0	1	0	1	0	0	0	0	8958	446	16	0	332	0	LRP2	2	169989165	Frame_Shift_Del	DEL	A	TCGA-B2-5635-01A-01D-1534-10	2	169989165	73210208	11	15006	118	2									
OGG1	4968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9792671	9792671	+	Silent	SNP	G	G	C	rs368830432		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:9792671G>C	ENST00000344629.7	+	2	523	c.180G>C	c.(178-180)gcG>gcC	p.A60A	OGG1_ENST00000349503.5_Silent_p.A60A|OGG1_ENST00000449570.2_Silent_p.A60A|OGG1_ENST00000339511.5_Silent_p.A60A|OGG1_ENST00000302036.7_Silent_p.A60A|OGG1_ENST00000302008.8_Silent_p.A60A|OGG1_ENST00000302003.7_Silent_p.A60A|OGG1_ENST00000383826.5_Silent_p.A60A|OGG1_ENST00000436092.1_3'UTR			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	60					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)	p.A60A(4)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GTGTACTAGCGGATCAAGTAT	0.567								Base excision repair (BER), DNA glycosylases																																								4	Substitution - coding silent(4)	kidney(4)											112	86	95					3																	9792671		2203	4300	6503	SO:0001819	synonymous_variant	4968			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.180G>C	3.37:g.9792671G>C			A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	CCDS2581.1																																																																																				0.567	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		C	9792671	G	C	9792671	2	2	249	1	0	0	0	0	0	0	0	1	10847	1103	39	4		4	OGG1	3	9792671	Silent	SNP	G	TCGA-B2-5635-01A-01D-1534-10		9792671	188229759	12	15007											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188287	10188287	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:10188287delG	ENST00000256474.2	+	2	1270	c.430delG	c.(430-432)ggafs	p.G144fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	144	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G144*(3)|p.G144R(1)|p.Q145fs*30(1)|p.G144fs*29(1)|p.G144fs*14(1)|p.D143fs*29(1)|p.N141fs*30(1)|p.S139fs*12(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAATGTTGACGGACAGCCTAT	0.423		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Deletion - Frameshift(6)|Substitution - Nonsense(3)|Insertion - Frameshift(1)|Substitution - Missense(1)	kidney(10)|endometrium(1)	GRCh37	CM982008	VHL	M							217	200	206					3																	10188287		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.430delG	3.37:g.10188287delG	ENSP00000256474:p.Gly144fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.423	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188287	G	-	10188287	7	5	249	1	0	1	0	1	0	0	0	0	17167	1117	39	0	436	0	VHL	3	10188287	Frame_Shift_Del	DEL	G	TCGA-B2-5635-01A-01D-1534-10	395616	10188287	187834143	13	15008											
CADPS	8618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	62423832	62423832	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:62423832C>G	ENST00000383710.4	-	28	4073	c.3724G>C	c.(3724-3726)Gat>Cat	p.D1242H	CADPS_ENST00000283269.9_Missense_Mutation_p.D1203H|CADPS_ENST00000357948.3_Missense_Mutation_p.D1163H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1242	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.D1203H(1)|p.D1242H(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCAGGACATCCTGAGAATGG	0.468																																																2	Substitution - Missense(2)	kidney(2)											100	94	96					3																	62423832		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3724G>C	3.37:g.62423832C>G	ENSP00000373215:p.Asp1242His		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.8|21.8|21.8	4.206768|4.206768|4.206768	0.79127|0.79127|0.79127	.|.|.	.|.|.	ENSG00000163618|ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000466621|ENST00000473635	T;T;T|.|.	0.33654|.|.	1.4;1.4;1.4|.|.	5.65|5.65|5.65	5.65|5.65|5.65	0.86999|0.86999|0.86999	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.82079|0.82079|0.82079	0.4959|0.4959|0.4959	M|M|M	0.81497|0.81497|0.81497	2.545|2.545|2.545	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.87578|.|.	0.998;0.997;0.997;0.996|.|.	T|T|T	0.82037|0.82037|0.82037	-0.0656|-0.0656|-0.0656	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.7806|19.7806|19.7806	0.96414|0.96414|0.96414	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	1163;1203;1242;1247|.|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.|.	.;.;CAPS1_HUMAN;.|.|.	H|A|S	1248;1242;1163;1203|142|233	ENSP00000373215:D1242H;ENSP00000350632:D1163H;ENSP00000283269:D1203H|.|.	ENSP00000283269:D1203H|.|.	D|G|R	-|-|-	1|2|3	0|0|2	CADPS|CADPS|CADPS	62398872|62398872|62398872	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.770000|7.770000|7.770000	0.85390|0.85390|0.85390	2.668000|2.668000|2.668000	0.90789|0.90789|0.90789	0.644000|0.644000|0.644000	0.83932|0.83932|0.83932	GAT|GGA|AGG		0.468	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		G	62423832	C	G	62423832	3	3	249	1	0	0	0	0	1	0	0	0	2572	855	30	4	349	4	CADPS	3	62423832	Missense_Mutation	SNP	C	TCGA-B2-5635-01A-01D-1534-10	52235545	62423832	135598598	14	15009											
KIAA2018	205717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113379615	113379615	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:113379615T>C	ENST00000478658.1	-	5	931	c.914A>G	c.(913-915)cAc>cGc	p.H305R	KIAA2018_ENST00000316407.4_Missense_Mutation_p.H305R|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	305						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.H305R(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGAGGAGCTGTGGGGGATGTT	0.413																																																1	Substitution - Missense(1)	kidney(1)											84	82	82					3																	113379615		1915	4127	6042	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.914A>G	3.37:g.113379615T>C	ENSP00000420721:p.His305Arg		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.397760	0.01175	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.12774	2.65;2.65	5.15	2.32	0.28847	.	0.780220	0.11888	N	0.519887	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44112	-0.9349	10	0.16420	T	0.52	7.7567	8.737	0.34534	0.0712:0.0:0.6581:0.2707	.	305	Q68DE3	K2018_HUMAN	R	305	ENSP00000320794:H305R;ENSP00000420721:H305R	ENSP00000320794:H305R	H	-	2	0	KIAA2018	114862305	1.000000	0.71417	0.000000	0.03702	0.016000	0.09150	3.685000	0.54678	0.305000	0.22832	-1.044000	0.02363	CAC		0.413	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		C	113379615	T	C	113379615	3	2	249	1	0	0	0	0	1	0	0	0	8270	1696	59	3	5827	3	KIAA2018	3	113379615	Missense_Mutation	SNP	T	TCGA-B2-5635-01A-01D-1534-10	50955783	113379615	84642815	15	15010											
MCCC1	56922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	182759471	182759471	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:182759471G>C	ENST00000265594.4	-	11	1297	c.1151C>G	c.(1150-1152)gCt>gGt	p.A384G	MCCC1_ENST00000539926.1_Missense_Mutation_p.A249G|MCCC1_ENST00000492597.1_Missense_Mutation_p.A275G	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	384	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.A384G(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ATATATTCTAGCTTCGAAGGC	0.458																																																1	Substitution - Missense(1)	kidney(1)											158	155	156					3																	182759471		2203	4300	6503	SO:0001583	missense	56922			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1151C>G	3.37:g.182759471G>C	ENSP00000265594:p.Ala384Gly		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765834	0.90020	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.45	5.45	0.79879	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	H	0.96208	3.785	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.992	P;P;D	0.67548	0.869;0.805;0.952	D	0.95671	0.8723	10	0.87932	D	0	.	19.2699	0.94004	0.0:0.0:1.0:0.0	.	337;275;384	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	G	384;275;234;249;337;337	ENSP00000265594:A384G;ENSP00000419898:A275G;ENSP00000441253:A249G;ENSP00000420433:A337G	ENSP00000265594:A384G	A	-	2	0	MCCC1	184242165	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	9.319000	0.96338	2.554000	0.86153	0.557000	0.71058	GCT		0.458	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		C	182759471	G	C	182759471	3	2	249	1	0	0	0	0	1	0	0	0	9376	971	34	4	1062	4	MCCC1	3	182759471	Missense_Mutation	SNP	G	TCGA-B2-5635-01A-01D-1534-10	69379856	182759471	15262959	16	15011											
ACOX3	8310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8418179	8418179	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr4:8418179A>G	ENST00000356406.5	-	2	147	c.70T>C	c.(70-72)Tac>Cac	p.Y24H	ACOX3_ENST00000503233.1_Missense_Mutation_p.Y24H|ACOX3_ENST00000413009.2_Missense_Mutation_p.Y24H	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	24					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.Y24H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTTGCTCGGTAGGCATCGAGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											69	69	69					4																	8418179		2203	4300	6503	SO:0001583	missense	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.70T>C	4.37:g.8418179A>G	ENSP00000348775:p.Tyr24His		Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412912	0.62511	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.44482	0.92;0.92;0.92	3.63	2.43	0.29744	Acyl-CoA dehydrogenase/oxidase (1);	0.141888	0.49916	D	0.000139	T	0.63522	0.2518	M	0.86268	2.805	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.64063	-0.6495	10	0.54805	T	0.06	-16.8544	9.2587	0.37599	0.8055:0.1945:0.0:0.0	.	24;24	O15254-2;O15254	.;ACOX3_HUMAN	H	24	ENSP00000413994:Y24H;ENSP00000348775:Y24H;ENSP00000421625:Y24H	ENSP00000348775:Y24H	Y	-	1	0	ACOX3	8469079	1.000000	0.71417	0.024000	0.17045	0.054000	0.15201	5.436000	0.66538	0.573000	0.29400	0.454000	0.30748	TAC		0.602	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			G	8418179	A	G	8418179	3	3	249	1	0	0	0	0	1	0	0	0	160	420	15	3	2100	3	ACOX3	4	8418179	Missense_Mutation	SNP	A	TCGA-B2-5635-01A-01D-1534-10		8418179	182736097	17	15012											
SLIT2	9353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	20543097	20543097	+	Silent	SNP	T	T	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr4:20543097T>C	ENST00000504154.1	+	20	2250	c.1998T>C	c.(1996-1998)ttT>ttC	p.F666F	SLIT2_ENST00000503823.1_Silent_p.F658F|SLIT2_ENST00000273739.5_Silent_p.F670F|SLIT2_ENST00000503837.1_Silent_p.F662F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	666	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.F666F(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAATCCTTTTAACTGTAACT	0.453																																																1	Substitution - coding silent(1)	kidney(1)											102	91	95					4																	20543097		2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1998T>C	4.37:g.20543097T>C			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																				0.453	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			C	20543097	T	C	20543097	2	2	249	1	0	0	0	0	0	0	0	1	14746	1751	61	3		3	SLIT2	4	20543097	Silent	SNP	T	TCGA-B2-5635-01A-01D-1534-10	12124918	20543097	170611179	18	15013											
RBM47	54502	broad.mit.edu	37	4	40440590	40440590	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr4:40440590G>A	ENST00000381793.2	-	3	717	c.321C>T	c.(319-321)gaC>gaT	p.D107D	RBM47_ENST00000514014.1_Silent_p.D69D|RBM47_ENST00000319592.4_Silent_p.D107D|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.D107D|RBM47_ENST00000381795.6_Silent_p.D107D			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	107	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D107D(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGTTCTTGCCGTCAAAGTCCA	0.647																																																3	Substitution - coding silent(3)	kidney(3)											73	65	68					4																	40440590		2203	4300	6503	SO:0001819	synonymous_variant	54502			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.321C>T	4.37:g.40440590G>A			A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	CCDS43223.1																																																																																				0.647	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		A	40440590	G	A	40440590	2	1	249	1	0	0	0	0	0	0	0	1	13147	1136	40	1		1	RBM47	4	40440590	Silent	SNP	G	TCGA-B2-5635-01A-01D-1534-10	19897493	40440590	150713686	19	15014											
DSPP	1834	hgsc.bcm.edu	37	4	88536934	88536934	+	Silent	SNP	C	C	T	rs200948555		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr4:88536934C>T	ENST00000282478.7	+	4	3153	c.3120C>T	c.(3118-3120)agC>agT	p.S1040S	DSPP_ENST00000399271.1_Silent_p.S1040S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1040	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagcgatagcagtg	0.527																																																0								C		2,3110		0,2,1554	57	65	62		3120	-2.8	0.7	4	dbSNP_134	62	7,5519		0,7,2756	no	coding-synonymous	DSPP	NM_014208.3		0,9,4310	TT,TC,CC		0.1267,0.0643,0.1042		1040/1302	88536934	9,8629	1556	2763	4319	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3120C>T	4.37:g.88536934C>T			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.527	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536934	C	T	88536934	2	4	249	1	0	0	0	0	0	0	0	1	4784	767	27	1		1	DSPP	4	88536934	Silent	SNP	C	TCGA-B2-5635-01A-01D-1534-10	48096344	88536934	102617342	20	15015											
NDUFC1	4717	hgsc.bcm.edu	37	4	140216900	140216900	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr4:140216900C>T	ENST00000544855.1	-	3	882	c.53G>A	c.(52-54)aGg>aAg	p.R18K	NDUFC1_ENST00000505036.1_Missense_Mutation_p.R18K|NDUFC1_ENST00000394228.1_Missense_Mutation_p.R18K|NDUFC1_ENST00000265500.4_Missense_Mutation_p.R18K|NDUFC1_ENST00000539387.1_Missense_Mutation_p.R18K|NDUFC1_ENST00000539002.1_Missense_Mutation_p.R18K|NDUFC1_ENST00000507764.1_5'UTR|NDUFC1_ENST00000394223.1_Missense_Mutation_p.R18K	NM_001184986.1	NP_001171915.1	O43677	NDUC1_HUMAN	NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa	18					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)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|upper_aerodigestive_tract(1)	2	all_hematologic(180;0.162)					GCTCGGGAGCCTGGCGGGGGC	0.692											OREG0016331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													10	11	11					4																	140216900		2142	4220	6362	SO:0001583	missense	4717			AF047184	CCDS3746.1	4q31.1	2011-07-04	2002-08-29		ENSG00000109390	ENSG00000109390		"Mitochondrial respiratory chain complex / Complex I"	7705	protein-coding gene	gene with protein product	"complex I KFYI subunit"	603844	"NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1 (6kD, KFYI)"			9425316, 9763677	Standard	NM_001184986		Approved	KFYI	uc021xsa.1	O43677	OTTHUMG00000133387	ENST00000544855.1:c.53G>A	4.37:g.140216900C>T	ENSP00000441126:p.Arg18Lys	1654	A8K532|Q3MIJ9	Missense_Mutation	SNP	ENST00000544855.1	37	CCDS3746.1	.	.	.	.	.	.	.	.	.	.	C	7.476	0.647672	0.14516	.	.	ENSG00000109390	ENST00000394228;ENST00000539387;ENST00000544855;ENST00000539002;ENST00000265500;ENST00000505036;ENST00000394223	.	.	.	4.08	2.36	0.29203	.	0.790281	0.11135	N	0.595952	T	0.16300	0.0392	.	.	.	0.24224	N	0.995429	B	0.06786	0.001	B	0.09377	0.004	T	0.30937	-0.9961	8	0.08179	T	0.78	-6.2088	6.7391	0.23424	0.0:0.7889:0.0:0.2111	.	18	O43677	NDUC1_HUMAN	K	18	.	ENSP00000265500:R18K	R	-	2	0	NDUFC1	140436350	0.333000	0.24731	0.773000	0.31616	0.111000	0.19643	0.609000	0.24238	0.683000	0.31428	-1.056000	0.02311	AGG		0.692	NDUFC1-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257237.1	NM_002494		T	140216900	C	T	140216900	3	4	249	1	0	0	0	0	1	0	0	0	10291	681	24	2	189	2	NDUFC1	4	140216900	Missense_Mutation	SNP	C	TCGA-B2-5635-01A-01D-1534-10	51679966	140216900	50937376	21	15016											
DNAH5	1767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	13719054	13719054	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr5:13719054A>C	ENST00000265104.4	-	72	12540	c.12436T>G	c.(12436-12438)Tcc>Gcc	p.S4146A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4146	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S4146A(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATTTAATGGACATCTGAAGG	0.463									Kartagener syndrome																																							1	Substitution - Missense(1)	kidney(1)											143	141	142					5																	13719054		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12436T>G	5.37:g.13719054A>C	ENSP00000265104:p.Ser4146Ala		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	7.940	0.742620	0.15642	.	.	ENSG00000039139	ENST00000265104	T	0.12984	2.63	5.59	-1.81	0.07882	Dynein heavy chain (1);	0.301987	0.37136	N	0.002235	T	0.16557	0.0398	M	0.79693	2.465	0.41102	D	0.985675	B	0.11235	0.004	B	0.23574	0.047	T	0.09058	-1.0692	10	0.27785	T	0.31	.	10.4785	0.44678	0.4294:0.4601:0.0:0.1104	.	4146	Q8TE73	DYH5_HUMAN	A	4146	ENSP00000265104:S4146A	ENSP00000265104:S4146A	S	-	1	0	DNAH5	13772054	1.000000	0.71417	0.988000	0.46212	0.067000	0.16453	1.859000	0.39418	-0.549000	0.06191	-1.437000	0.01076	TCC		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		C	13719054	A	C	13719054	3	2	249	1	0	0	0	0	1	0	0	0	4606	275	10	5	1470	5	DNAH5	5	13719054	Missense_Mutation	SNP	A	TCGA-B2-5635-01A-01D-1534-10		13719054	167196206	22	15017											
PPP2R2B	5521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	146070789	146070789	+	Missense_Mutation	SNP	G	G	T	rs369226679		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr5:146070789G>T	ENST00000394413.3	-	4	919	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	PPP2R2B_ENST00000394411.4_Missense_Mutation_p.L117M|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.L175M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.L117M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.L123M|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.L117M|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.L106M|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.L106M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.L120M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.L183M			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	117					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.L120M(1)|p.L117M(1)|p.L106M(1)|p.L175M(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTTCCACAGCTTCACAGTT	0.512																																																4	Substitution - Missense(4)	kidney(4)											78	84	82					5																	146070789		2203	4300	6503	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.349C>A	5.37:g.146070789G>T	ENSP00000377935:p.Leu117Met		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254691	0.80135	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.85	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.994;0.994;0.996;0.998;0.994	T	0.75360	-0.3345	10	0.87932	D	0	-8.9761	12.4265	0.55551	0.1349:0.0:0.8651:0.0	.	175;123;106;183;120;117	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	M	117;106;183;117;117;117;106;120;123;175	ENSP00000377935:L117M;ENSP00000431320:L106M;ENSP00000377936:L183M;ENSP00000377933:L117M;ENSP00000349283:L117M;ENSP00000398779:L117M;ENSP00000377932:L106M;ENSP00000336591:L120M;ENSP00000421396:L123M;ENSP00000377931:L175M	ENSP00000336591:L120M	L	-	1	2	AC011357.1	146050982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.273000	0.51623	0.833000	0.34828	0.655000	0.94253	CTG		0.512	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		T	146070789	G	T	146070789	3	4	249	1	0	0	0	0	1	0	0	0	12390	962	34	4	1006	4	PPP2R2B	5	146070789	Missense_Mutation	SNP	G	TCGA-B2-5635-01A-01D-1534-10	132351735	146070789	34844471	23	15018											
GCNT2	2651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10621587	10621587	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr6:10621587T>C	ENST00000379597.3	+	2	1485	c.929T>C	c.(928-930)gTt>gCt	p.V310A	GCNT2_ENST00000316170.3_Missense_Mutation_p.V308A|GCNT2_ENST00000265012.4_Missense_Mutation_p.V310A|GCNT2_ENST00000495262.1_Missense_Mutation_p.V310A|GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000410107.1_Missense_Mutation_p.V24A			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	310					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.V310A(2)|p.V308A(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ATTGCAGGTGTTCCTGGCTCT	0.468																																																3	Substitution - Missense(3)	kidney(3)											89	79	82					6																	10621587		2203	4300	6503	SO:0001583	missense	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.929T>C	6.37:g.10621587T>C	ENSP00000368917:p.Val310Ala			Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616288	0.46631	.	.	ENSG00000111846	ENST00000410107;ENST00000495262;ENST00000379597;ENST00000316170;ENST00000265012	T;T;T;T;T	0.52754	0.65;2.67;2.67;2.67;2.81	5.51	5.51	0.81932	.	0.631279	0.16034	N	0.232711	T	0.35364	0.0929	L	0.46885	1.475	0.40937	D	0.984431	B;P;B;B	0.47191	0.003;0.891;0.015;0.045	B;P;B;B	0.47299	0.028;0.543;0.048;0.041	T	0.09143	-1.0688	10	0.27082	T	0.32	-38.119	13.8698	0.63612	0.0:0.0:0.0:1.0	.	310;24;310;308	Q8N0V5;B7ZBL3;Q8NFS9;Q06430	GNT2A_HUMAN;.;GNT2C_HUMAN;GNT2B_HUMAN	A	24;310;310;308;310	ENSP00000386321:V24A;ENSP00000419411:V310A;ENSP00000368917:V310A;ENSP00000314844:V308A;ENSP00000265012:V310A	ENSP00000265012:V310A	V	+	2	0	GCNT2	10729573	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	3.475000	0.53136	2.103000	0.63969	0.533000	0.62120	GTT		0.468	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		C	10621587	T	C	10621587	3	2	249	1	0	0	0	0	1	0	0	0	6303	1725	60	3	2787	3	GCNT2	6	10621587	Missense_Mutation	SNP	T	TCGA-B2-5635-01A-01D-1534-10		10621587	160493480	24	15019											
KIAA1586	57691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56917523	56917523	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr6:56917523T>A	ENST00000370733.4	+	4	433	c.226T>A	c.(226-228)Ttg>Atg	p.L76M	KIAA1586_ENST00000545356.1_Missense_Mutation_p.L49M|KIAA1586_ENST00000488682.1_3'UTR	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	76							nucleic acid binding (GO:0003676)	p.L76M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGGTGATTTTTTGCATTTTTT	0.308																																																1	Substitution - Missense(1)	kidney(1)											46	50	48					6																	56917523		2203	4300	6503	SO:0001583	missense	57691			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.226T>A	6.37:g.56917523T>A	ENSP00000359768:p.Leu76Met		A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	t	12.53	1.965420	0.34659	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.37915	1.18;1.17	4.11	2.94	0.34122	.	.	.	.	.	T	0.14013	0.0339	N	0.14661	0.345	0.09310	N	1	P;P	0.52061	0.95;0.95	P;P	0.50708	0.648;0.648	T	0.04203	-1.0969	9	0.62326	D	0.03	.	6.3013	0.21115	0.0:0.1151:0.0:0.8849	.	49;76	F5H2N6;Q9HCI6	.;K1586_HUMAN	M	76;49	ENSP00000359768:L76M;ENSP00000445507:L49M	ENSP00000359768:L76M	L	+	1	2	KIAA1586	57025482	0.005000	0.15991	0.001000	0.08648	0.920000	0.55202	0.335000	0.19806	0.732000	0.32470	-0.456000	0.05471	TTG		0.308	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		A	56917523	T	A	56917523	3	1	249	1	0	0	0	0	1	0	0	0	8247	1838	64	5	240	5	KIAA1586	6	56917523	Missense_Mutation	SNP	T	TCGA-B2-5635-01A-01D-1534-10	46295936	56917523	114197544	25	15020											
DOPEY1	23033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	83872600	83872600	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr6:83872600G>C	ENST00000349129.2	+	38	7314	c.7054G>C	c.(7054-7056)Gtg>Ctg	p.V2352L	DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2236L|DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2343L|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2352					protein transport (GO:0015031)			p.V2352L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TAAACCTTACGTGGTACGACT	0.393																																																1	Substitution - Missense(1)	kidney(1)											209	195	200					6																	83872600		2203	4300	6503	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.7054G>C	6.37:g.83872600G>C	ENSP00000195654:p.Val2352Leu		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501475	0.85176	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.42900	0.96;0.96	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.39397	1.21	0.80722	D	1	P;B;B	0.46784	0.884;0.174;0.174	B;B;B	0.38327	0.271;0.045;0.045	T	0.04767	-1.0928	10	0.42905	T	0.14	.	19.9326	0.97124	0.0:0.0:1.0:0.0	.	2243;2343;2352	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	L	2352;2236;2236	ENSP00000195654:V2352L;ENSP00000237163:V2236L	ENSP00000237163:V2236L	V	+	1	0	DOPEY1	83929319	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	7.569000	0.82380	2.720000	0.93068	0.650000	0.86243	GTG		0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		C	83872600	G	C	83872600	3	2	249	1	0	0	0	0	1	0	0	0	4709	1145	40	4	7196	4	DOPEY1	6	83872600	Missense_Mutation	SNP	G	TCGA-B2-5635-01A-01D-1534-10	26955077	83872600	87242467	26	15021											
AKR1B15	441282	broad.mit.edu;hgsc.bcm.edu	37	7	134261166	134261166	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr7:134261166A>G	ENST00000457545.2	+	9	1069	c.809A>G	c.(808-810)aAa>aGa	p.K270R	AKR1B15_ENST00000423958.1_Missense_Mutation_p.K242R	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	270							oxidoreductase activity (GO:0016491)	p.K242R(1)|p.K270R(1)|p.K288R(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCAAAGCACAAAAAAACCACA	0.448																																																3	Substitution - Missense(3)	kidney(3)											66	73	70					7																	134261166		2203	4300	6503	SO:0001583	missense	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.809A>G	7.37:g.134261166A>G	ENSP00000389289:p.Lys270Arg		C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550198	0.27652	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.25250	1.81;1.81	3.59	3.59	0.41128	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.21307	0.0513	L	0.31526	0.94	0.42822	D	0.993998	B;B	0.25169	0.004;0.119	B;B	0.31337	0.005;0.128	T	0.08848	-1.0702	9	0.56958	D	0.05	.	11.1763	0.48601	1.0:0.0:0.0:0.0	.	242;270	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	R	270;242	ENSP00000389289:K270R;ENSP00000397009:K242R	ENSP00000397009:K242R	K	+	2	0	AKR1B15	133911706	0.997000	0.39634	0.788000	0.31933	0.493000	0.33554	4.517000	0.60503	1.493000	0.48517	0.333000	0.21579	AAA		0.448	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			G	134261166	A	G	134261166	3	3	249	1	0	0	0	0	1	0	0	0	468	14	1	3	835	3	AKR1B15	7	134261166	Missense_Mutation	SNP	A	TCGA-B2-5635-01A-01D-1534-10		134261166	24877497	27	15022											
ESCO2	157570	hgsc.bcm.edu;ucsc.edu	37	8	27634237	27634237	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr8:27634237delA	ENST00000305188.8	+	3	650	c.412delA	c.(412-414)aaafs	p.K139fs	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR|RNU6-1276P_ENST00000365372.1_RNA	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	139					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GAAGAACAACAAAAAACCACA	0.348									SC Phocomelia syndrome																																							0													56	53	54					8																	27634237		2203	4300	6503	SO:0001589	frameshift_variant	157570	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.412delA	8.37:g.27634237delA	ENSP00000306999:p.Lys139fs		B3KW59|Q49AP4	Frame_Shift_Del	DEL	ENST00000305188.8	37	CCDS34872.1																																																																																				0.348	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		-	27634237	A	-	27634237	7	5	249	1	0	1	0	1	0	0	0	0	5251	131	5	0	418	0	ESCO2	8	27634237	Frame_Shift_Del	DEL	A	TCGA-B2-5635-01A-01D-1534-10		27634237	118729785	28	15023											
PLEKHA2	59339	hgsc.bcm.edu;ucsc.edu	37	8	38775478	38775479	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr8:38775478_38775479delTG	ENST00000521746.1	+	2	265_266	c.31_32delTG	c.(31-33)tgtfs	p.C11fs	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000420274.1_Frame_Shift_Del_p.C11fs			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	11	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GAACCGAATCTGTGGGTTTCTG	0.55																																																0																																										SO:0001589	frameshift_variant	59339			AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"Pleckstrin homology (PH) domain containing"	14336	protein-coding gene	gene with protein product	"tandem PH Domain containing protein-2"	607773	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.31_32delTG	8.37:g.38775480_38775481delTG	ENSP00000430938:p.Cys11fs			Frame_Shift_Del	DEL	ENST00000521746.1	37																																																																																					0.55	PLEKHA2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000377068.1	NM_021623		-	38775479	TG	-	38775478	7	5	249	1	0	1	0	1	0	0	0	0	12058	1580	55	0	33	0	PLEKHA2	8	38775478	Frame_Shift_Del	DEL	TG	TCGA-B2-5635-01A-01D-1534-10	11141241	38775478	107588544	29	15024											
KCNV2	169522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2729474	2729474	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr9:2729474A>G	ENST00000382082.3	+	2	1623	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	462					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.D462G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GGCTACGGAGACATGTACCCA	0.512																																																1	Substitution - Missense(1)	kidney(1)											132	107	115					9																	2729474		2203	4300	6503	SO:0001583	missense	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1385A>G	9.37:g.2729474A>G	ENSP00000371514:p.Asp462Gly		Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813172	0.90707	.	.	ENSG00000168263	ENST00000382082	D	0.98987	-5.3	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97320	0.9943	10	0.87932	D	0	.	15.6629	0.77203	1.0:0.0:0.0:0.0	.	462	Q8TDN2	KCNV2_HUMAN	G	462	ENSP00000371514:D462G	ENSP00000371514:D462G	D	+	2	0	KCNV2	2719474	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.287000	0.95975	2.165000	0.68154	0.533000	0.62120	GAC		0.512	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		G	2729474	A	G	2729474	3	3	249	1	0	0	0	0	1	0	0	0	8097	275	10	3	1391	3	KCNV2	9	2729474	Missense_Mutation	SNP	A	TCGA-B2-5635-01A-01D-1534-10		2729474	138483957	30	15025											
DAPK1	1612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	90258354	90258354	+	Missense_Mutation	SNP	A	A	G	rs370466694		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr9:90258354A>G	ENST00000408954.3	+	11	1317	c.982A>G	c.(982-984)Atg>Gtg	p.M328V	DAPK1_ENST00000472284.1_Missense_Mutation_p.M328V|DAPK1_ENST00000469640.2_Missense_Mutation_p.M328V|DAPK1_ENST00000358077.5_Missense_Mutation_p.M328V|DAPK1_ENST00000491893.1_Missense_Mutation_p.M328V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	328	Calmodulin-binding.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M328V(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAGAAGTAACATGAGTGTTGC	0.428									Chronic Lymphocytic Leukemia, Familial Clustering of																																							2	Substitution - Missense(2)	kidney(2)						A	VAL/MET	0,3814		0,0,1907	84	83	83		982	3.1	1	9		83	1,8259		0,1,4129	no	missense	DAPK1	NM_004938.2	21	0,1,6036	GG,GA,AA		0.0121,0.0,0.0083	benign	328/1431	90258354	1,12073	1907	4130	6037	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.982A>G	9.37:g.90258354A>G	ENSP00000386135:p.Met328Val		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469086	0.43839	0.0	1.21E-4	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.09	5.45	3.06	0.35304	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000005	T	0.47358	0.1441	L	0.46157	1.445	0.44289	D	0.997156	B;B;B	0.33477	0.413;0.003;0.012	B;B;B	0.26094	0.066;0.006;0.006	T	0.26883	-1.0090	10	0.25106	T	0.35	.	8.1579	0.31180	0.7949:0.1353:0.0697:0.0	.	328;328;328	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	V	328	ENSP00000350785:M328V;ENSP00000417076:M328V;ENSP00000418885:M328V;ENSP00000386135:M328V;ENSP00000419026:M328V	ENSP00000350785:M328V	M	+	1	0	DAPK1	89448174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.877000	0.63086	0.434000	0.26340	0.533000	0.62120	ATG		0.428	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		G	90258354	A	G	90258354	3	3	249	1	0	0	0	0	1	0	0	0	4237	217	8	3	1020	3	DAPK1	9	90258354	Missense_Mutation	SNP	A	TCGA-B2-5635-01A-01D-1534-10	87528880	90258354	50955077	31	15026											
NEBL	10529	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	21158725	21158725	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr10:21158725C>G	ENST00000377122.4	-	6	922	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q	NEBL_ENST00000377119.1_Missense_Mutation_p.E176Q|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	176					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.E176Q(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGGTCAAGTTCTGCACTGTAC	0.368																																																1	Substitution - Missense(1)	kidney(1)											222	183	196					10																	21158725		2203	4300	6503	SO:0001583	missense	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.526G>C	10.37:g.21158725C>G	ENSP00000366326:p.Glu176Gln		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873709	0.17322	.	.	ENSG00000078114	ENST00000377122;ENST00000377119	T;T	0.16897	3.55;2.31	5.97	5.07	0.68467	.	0.432128	0.25006	N	0.033874	T	0.13457	0.0326	N	0.22421	0.69	0.80722	D	1	B	0.23316	0.083	B	0.23716	0.048	T	0.07424	-1.0773	10	0.26408	T	0.33	.	15.3074	0.74004	0.0:0.9331:0.0:0.0669	.	176	O76041	NEBL_HUMAN	Q	176	ENSP00000366326:E176Q;ENSP00000366323:E176Q	ENSP00000366323:E176Q	E	-	1	0	NEBL	21198731	0.983000	0.35010	0.087000	0.20705	0.113000	0.19764	4.085000	0.57657	1.534000	0.49203	0.655000	0.94253	GAA		0.368	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		G	21158725	C	G	21158725	3	3	249	1	0	0	0	0	1	0	0	0	10305	922	32	4	2610	4	NEBL	10	21158725	Missense_Mutation	SNP	C	TCGA-B2-5635-01A-01D-1534-10		21158725	114376022	32	15027											
MYST4	23522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	76790353	76790353	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr10:76790353C>G	ENST00000287239.4	+	18	6260	c.5771C>G	c.(5770-5772)tCc>tGc	p.S1924C	KAT6B_ENST00000372724.1_Missense_Mutation_p.S1632C|KAT6B_ENST00000372725.1_Missense_Mutation_p.S1632C|KAT6B_ENST00000372711.1_Missense_Mutation_p.S1741C|KAT6B_ENST00000372714.1_Missense_Mutation_p.S1632C	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1924	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1924C(1)									GGCCACATCTCCATGAGAACC	0.562																																																1	Substitution - Missense(1)	kidney(1)											96	101	99					10																	76790353		2203	4300	6503	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5771C>G	10.37:g.76790353C>G	ENSP00000287239:p.Ser1924Cys		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841618	0.51057	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.82984	-1.63;-1.63;-1.67;-1.63;-1.66	5.69	5.69	0.88448	.	0.136701	0.33496	N	0.004850	D	0.85557	0.5724	L	0.27053	0.805	0.58432	D	0.999997	P;D;D	0.61697	0.874;0.99;0.981	P;P;P	0.60473	0.789;0.875;0.853	D	0.87132	0.2197	10	0.87932	D	0	-8.0833	19.799	0.96497	0.0:1.0:0.0:0.0	.	1741;1632;1924	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	C	1632;1632;1924;1632;1741	ENSP00000361810:S1632C;ENSP00000361809:S1632C;ENSP00000287239:S1924C;ENSP00000361799:S1632C;ENSP00000361796:S1741C	ENSP00000287239:S1924C	S	+	2	0	KAT6B	76460359	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.682000	0.91365	0.563000	0.77884	TCC		0.562	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		G	76790353	C	G	76790353	3	3	249	1	0	0	0	0	1	0	0	0	10107	855	30	4	5833	4	MYST4	10	76790353	Missense_Mutation	SNP	C	TCGA-B2-5635-01A-01D-1534-10	55631628	76790353	58744394	33	15028											
C10orf93	54777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	134743171	134743171	+	Missense_Mutation	SNP	G	G	A	rs149229934		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr10:134743171G>A	ENST00000368585.3	-	9	1342	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368586.5_Intron														p.A277V(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGTGAGCAGCGCCTCATCCCC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18135	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	135	124	128		1004	-3.9	0	10	dbSNP_134	128	0,8600		0,0,4300	no	missense	C10orf93	NM_173572.3	64	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	335/406	134743171	5,13001	2203	4300	6503	SO:0001583	missense	0																														ENST00000368585.3:c.1004C>T	10.37:g.134743171G>A	ENSP00000357574:p.Ala335Val			Missense_Mutation	SNP	ENST00000368585.3	37		.	.	.	.	.	.	.	.	.	.	G	1.194	-0.634487	0.03584	0.001135	0.0	ENSG00000171811	ENST00000368585	T	0.44083	0.93	1.97	-3.94	0.04130	.	7.591570	0.00654	U	0.000573	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.18555	-1.0333	10	0.54805	T	0.06	.	3.4879	0.07626	0.1108:0.277:0.4529:0.1594	.	335	Q5SR76-1	.	V	335	ENSP00000357574:A335V	ENSP00000357574:A335V	A	-	2	0	C10orf93	134593161	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.613000	0.00883	-3.344000	0.00182	-1.569000	0.00873	GCG		0.557	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			A	134743171	G	A	134743171	3	1	249	1	0	0	0	0	1	0	0	0	1627	1087	38	1	217	1	C10orf93	10	134743171	Missense_Mutation	SNP	G	TCGA-B2-5635-01A-01D-1534-10	57952818	134743171	791576	34	15029											
CHRDL2	25884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	74413875	74413875	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr11:74413875C>T	ENST00000376332.3	-	9	1580	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.D362N	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	362					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.D362N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					TCCACCAAGTCCGAGGCCTCG	0.632											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											111	108	109					11																	74413875		2200	4293	6493	SO:0001583	missense	25884			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1084G>A	11.37:g.74413875C>T	ENSP00000365510:p.Asp362Asn	1152	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37		.	.	.	.	.	.	.	.	.	.	C	13.47	2.246504	0.39697	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	T;T;T	0.62941	-0.01;-0.01;-0.01	5.09	5.09	0.68999	.	0.283470	0.36303	N	0.002663	T	0.58424	0.2121	L	0.46157	1.445	0.33526	D	0.593016	B;B;B	0.29531	0.247;0.134;0.178	B;B;B	0.33568	0.166;0.103;0.157	T	0.69803	-0.5046	10	0.52906	T	0.07	-8.0809	14.339	0.66611	0.0:1.0:0.0:0.0	.	297;362;362	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	N	362;362;248;246;297	ENSP00000263671:D362N;ENSP00000365510:D362N;ENSP00000431380:D297N	ENSP00000263671:D362N	D	-	1	0	CHRDL2	74091523	0.998000	0.40836	0.992000	0.48379	0.073000	0.16967	4.707000	0.61852	2.517000	0.84864	0.561000	0.74099	GAC		0.632	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			T	74413875	C	T	74413875	3	4	249	1	0	0	0	0	1	0	0	0	3376	855	30	2	287	2	CHRDL2	11	74413875	Missense_Mutation	SNP	C	TCGA-B2-5635-01A-01D-1534-10		74413875	60592641	35	15030											
AMOTL1	154810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94592715	94592715	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr11:94592715A>G	ENST00000433060.2	+	9	2111	c.1970A>G	c.(1969-1971)aAc>aGc	p.N657S	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.N607S	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	657					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.N658S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAGCCAGCCAACATGCCGGAA	0.517																																																1	Substitution - Missense(1)	kidney(1)											48	51	50					11																	94592715		2188	4297	6485	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1970A>G	11.37:g.94592715A>G	ENSP00000387739:p.Asn657Ser		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	A	4.355	0.065392	0.08388	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.15718	2.4;2.4	6.08	0.3	0.15776	Angiomotin, C-terminal (1);	0.508491	0.22932	N	0.053882	T	0.06096	0.0158	N	0.05510	-0.035	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.42599	-0.9442	10	0.02654	T	1	-5.0413	9.0816	0.36556	0.3783:0.097:0.5247:0.0	.	607;657	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	S	607;657	ENSP00000320968:N607S;ENSP00000387739:N657S	ENSP00000320968:N607S	N	+	2	0	AMOTL1	94232363	0.008000	0.16893	0.003000	0.11579	0.023000	0.10783	1.131000	0.31406	0.134000	0.18681	-0.242000	0.12053	AAC		0.517	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		G	94592715	A	G	94592715	3	3	249	1	0	0	0	0	1	0	0	0	583	43	2	3	2004	3	AMOTL1	11	94592715	Missense_Mutation	SNP	A	TCGA-B2-5635-01A-01D-1534-10	20178840	94592715	40413801	36	15031											
RDX	5962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	110124794	110124794	+	Missense_Mutation	SNP	C	C	T	rs150863373		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr11:110124794C>T	ENST00000343115.4	-	9	1155	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.R143Q|RDX_ENST00000405097.1_Missense_Mutation_p.R279Q|RDX_ENST00000528498.1_Missense_Mutation_p.R279Q	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	279	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.R279Q(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GGCCAAAATCCGCTTATTGAT	0.383																																					Esophageal Squamous(55;25 1062 11040 28755 44273)											1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	102	90	94		836	5.7	1	11	dbSNP_134	94	0,8596		0,0,4298	yes	missense	RDX	NM_002906.3	43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	279/584	110124794	1,12997	2201	4298	6499	SO:0001583	missense	5962			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.836G>A	11.37:g.110124794C>T	ENSP00000342830:p.Arg279Gln		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014321	0.93404	2.27E-4	0.0	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.72	5.72	0.89469	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	M	0.81239	2.535	0.80722	D	1	D;D;P	0.69078	0.967;0.997;0.6	B;P;B	0.55112	0.438;0.769;0.194	D	0.89757	0.3944	10	0.51188	T	0.08	.	19.8831	0.96905	0.0:1.0:0.0:0.0	.	143;279;279	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	Q	279;279;279;279;143	ENSP00000432112:R279Q;ENSP00000384136:R279Q;ENSP00000342830:R279Q;ENSP00000445826:R143Q	ENSP00000342830:R279Q	R	-	2	0	RDX	109630004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.765000	0.85310	2.705000	0.92388	0.655000	0.94253	CGG		0.383	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		T	110124794	C	T	110124794	3	4	249	1	0	0	0	0	1	0	0	0	13204	652	23	1	939	1	RDX	11	110124794	Missense_Mutation	SNP	C	TCGA-B2-5635-01A-01D-1534-10	15532079	110124794	24881722	37	15032											
HYOU1	10525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118917418	118917418	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr11:118917418G>A	ENST00000404233.3	-	23	2816	c.2692C>T	c.(2692-2694)Ctg>Ttg	p.L898L	RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000525859.1_Silent_p.L836L|HYOU1_ENST00000529972.1_Silent_p.L836L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	898					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.L898L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCTCGGTCCAGGGCCATCATC	0.572																																																1	Substitution - coding silent(1)	kidney(1)											109	108	109					11																	118917418		2200	4295	6495	SO:0001819	synonymous_variant	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2692C>T	11.37:g.118917418G>A			A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	ENST00000404233.3	37	CCDS8408.1																																																																																				0.572	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		A	118917418	G	A	118917418	2	1	249	1	0	0	0	0	0	0	0	1	7472	991	35	2		2	HYOU1	11	118917418	Silent	SNP	G	TCGA-B2-5635-01A-01D-1534-10	8792624	118917418	16089098	38	15033											
RTN1	6252	broad.mit.edu;ucsc.edu	37	14	60212848	60212848	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr14:60212848T>C	ENST00000267484.5	-	2	928	c.593A>G	c.(592-594)gAc>gGc	p.D198G		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	198					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.D198G(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTGGTTATGTCAATGTATTT	0.448																																																1	Substitution - Missense(1)	kidney(1)											230	225	227					14																	60212848		2203	4300	6503	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.593A>G	14.37:g.60212848T>C	ENSP00000267484:p.Asp198Gly		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.042940	0.75732	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.39229	1.09	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71111	-0.4687	10	0.87932	D	0	.	15.9506	0.79830	0.0:0.0:0.0:1.0	.	198	Q16799	RTN1_HUMAN	G	198;124	ENSP00000267484:D198G	ENSP00000267484:D198G	D	-	2	0	RTN1	59282601	1.000000	0.71417	0.992000	0.48379	0.839000	0.47603	5.887000	0.69751	2.171000	0.68590	0.455000	0.32223	GAC		0.448	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			C	60212848	T	C	60212848	3	2	249	1	0	0	0	0	1	0	0	0	13731	1667	58	3	1834	3	RTN1	14	60212848	Missense_Mutation	SNP	T	TCGA-B2-5635-01A-01D-1534-10		60212848	47136692	39	15034											
PLA2G4F	255189	hgsc.bcm.edu;ucsc.edu	37	15	42437860	42437861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr15:42437860_42437861insA	ENST00000382396.4	-	16	1778_1779	c.1692_1693insT	c.(1690-1695)tttgccfs	p.A565fs	PLA2G4F_ENST00000397272.3_Frame_Shift_Ins_p.A567fs			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	565	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGCTGGTGGCAAAGGCGCTGC	0.644																																																0																																										SO:0001589	frameshift_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1693dupT	15.37:g.42437863_42437863dupA	ENSP00000371833:p.Ala565fs		Q6ZMC8	Frame_Shift_Ins	INS	ENST00000382396.4	37	CCDS32204.1																																																																																				0.644	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		A	42437861	-	A	42437860	7	5	249	1	0	1	1	0	0	0	0	0	12008	710	25	0	876	0	PLA2G4F	15	42437860	Frame_Shift_Ins	INS	-	TCGA-B2-5635-01A-01D-1534-10		42437860	60093532	40	15035											
DUOXA1	405753	hgsc.bcm.edu;ucsc.edu	37	15	45409941	45409941	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr15:45409941delC	ENST00000323030.5	+	6	1082	c.797delC	c.(796-798)gccfs	p.A266fs	DUOXA1_ENST00000430224.2_Frame_Shift_Del_p.R363fs|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000267803.4_Frame_Shift_Del_p.R408fs|DUOXA1_ENST00000559014.1_Frame_Shift_Del_p.R408fs	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	266					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CTCGGAGGGGCCGTGGTGAGT	0.617																																																0													68	67	67					15																	45409941		2198	4298	6496	SO:0001589	frameshift_variant	90527			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.797delC	15.37:g.45409941delC	ENSP00000319705:p.Ala266fs		B2RPI9|H0YNQ6	Frame_Shift_Del	DEL	ENST00000323030.5	37	CCDS10118.2																																																																																				0.617	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		-	45409941	C	-	45409941	7	5	249	1	0	1	0	1	0	0	0	0	4804	739	26	0	231	0	DUOXA1	15	45409941	Frame_Shift_Del	DEL	C	TCGA-B2-5635-01A-01D-1534-10	2972081	45409941	57121451	41	15036											
TM6SF1	53346	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	83805287	83805287	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr15:83805287A>G	ENST00000322019.9	+	10	1250	c.976A>G	c.(976-978)Aga>Gga	p.R326G	TM6SF1_ENST00000565774.1_Missense_Mutation_p.R295G|TM6SF1_ENST00000379386.4_Missense_Mutation_p.R329G|TM6SF1_ENST00000379390.6_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	326						integral component of membrane (GO:0016021)		p.R326G(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TTATGTCTACAGAGTCCCTGA	0.373																																																1	Substitution - Missense(1)	kidney(1)											99	96	97					15																	83805287		2203	4300	6503	SO:0001583	missense	53346			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.976A>G	15.37:g.83805287A>G	ENSP00000317000:p.Arg326Gly		A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.901043	0.72754	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384	T;T	0.33438	1.41;1.42	5.49	2.97	0.34412	.	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.57347	-0.7827	10	0.87932	D	0	-14.8547	11.9062	0.52713	0.7247:0.2753:0.0:0.0	.	295;326	E9PD04;Q9BZW5	.;TM6S1_HUMAN	G	326;329;295	ENSP00000317000:R326G;ENSP00000368696:R329G	ENSP00000317000:R326G	R	+	1	2	TM6SF1	81596291	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.097000	0.50251	0.886000	0.36113	0.482000	0.46254	AGA		0.373	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		G	83805287	A	G	83805287	3	3	249	1	0	0	0	0	1	0	0	0	15977	180	7	3	1014	3	TM6SF1	15	83805287	Missense_Mutation	SNP	A	TCGA-B2-5635-01A-01D-1534-10	38395346	83805287	18726105	42	15037											
IGF1R	3480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	99192876	99192876	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr15:99192876G>A	ENST00000268035.6	+	1	677	c.66G>A	c.(64-66)gcG>gcA	p.A22A	RP11-35O15.1_ENST00000560221.1_RNA|IGF1R_ENST00000558762.1_Silent_p.A22A	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	22					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.A22A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TCTCCGCCGCGCTCTCGCTCT	0.607																																																1	Substitution - coding silent(1)	kidney(1)											33	39	37					15																	99192876		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.66G>A	15.37:g.99192876G>A			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																				0.607	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		A	99192876	G	A	99192876	2	1	249	1	0	0	0	0	0	0	0	1	7573	1074	38	1		1	IGF1R	15	99192876	Silent	SNP	G	TCGA-B2-5635-01A-01D-1534-10	15387589	99192876	3338516	43	15038											
IFT140	9742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1652468	1652468	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr16:1652468T>A	ENST00000426508.2	-	4	635	c.272A>T	c.(271-273)cAg>cTg	p.Q91L	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	91					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.Q91L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CTCCTTGTCCTGCTTGTTAAA	0.632																																																1	Substitution - Missense(1)	kidney(1)											170	124	139					16																	1652468		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.272A>T	16.37:g.1652468T>A	ENSP00000406012:p.Gln91Leu		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582394	0.65992	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T;T	0.61980	0.06;1.55	4.82	3.73	0.42828	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056421	0.64402	D	0.000001	T	0.65760	0.2722	M	0.68593	2.085	0.47407	D	0.999415	P	0.51351	0.944	P	0.51229	0.663	T	0.63834	-0.6547	10	0.42905	T	0.14	.	8.9325	0.35680	0.0:0.0893:0.0:0.9107	.	91	Q96RY7	IF140_HUMAN	L	91	ENSP00000380562:Q91L;ENSP00000406012:Q91L	ENSP00000380562:Q91L	Q	-	2	0	IFT140	1592469	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.722000	0.47269	0.723000	0.32274	0.454000	0.30748	CAG		0.632	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1652468	T	A	1652468	3	1	249	1	0	0	0	0	1	0	0	0	7558	1580	55	5	4228	5	IFT140	16	1652468	Missense_Mutation	SNP	T	TCGA-B2-5635-01A-01D-1534-10		1652468	88702285	44	15039											
TSNAXIP1	80152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67859889	67859890	+	IGR	DNP	AG	AG	TA			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr16:67859889_67859890AG>TA	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.S352Y|TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.S298Y|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.S283Y	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S298N(1)|p.S298C(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCTGCACATGAGCACGCTGAAG	0.614																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001628	intergenic_variant	55815			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1684_1684delinsTA	16.37:g.67859889_67859890delinsTA			Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	CCDS42182.1																																																																																				0.614	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		TA	67859890	AG	TA	67859889	1	4	249	0	1	0	0	0	0	0	0	0	16637	304	11	5		5	TSNAXIP1	16	67859889	IGR	DNP	AG	TCGA-B2-5635-01A-01D-1534-10	66207421	67859889	22494864	45	15040											
CBFA2T3	863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88945789	88945789	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr16:88945789G>A	ENST00000268679.4	-	11	1947	c.1551C>T	c.(1549-1551)caC>caT	p.H517H	CBFA2T3_ENST00000448839.1_Silent_p.H441H|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Silent_p.H479H|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000360302.2_Silent_p.H431H|CBFA2T3_ENST00000327483.5_Silent_p.H431H|RP11-830F9.5_ENST00000562574.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	517					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H517H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGATGAGCTCGTGCGCTTTGC	0.662			T	RUNX1	AML																																		Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	1	Substitution - coding silent(1)	kidney(1)											81	70	74					16																	88945789		2198	4298	6496	SO:0001819	synonymous_variant	863			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1551C>T	16.37:g.88945789G>A			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	ENST00000268679.4	37	CCDS10972.1																																																																																				0.662	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		A	88945789	G	A	88945789	2	1	249	1	0	0	0	0	0	0	0	1	2700	1136	40	1		1	CBFA2T3	16	88945789	Silent	SNP	G	TCGA-B2-5635-01A-01D-1534-10	21085900	88945789	1408964	46	15041											
MBTD1	54799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	49279412	49279412	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr17:49279412A>T	ENST00000586178.1	-	11	1433	c.1090T>A	c.(1090-1092)Ttt>Att	p.F364I	MBTD1_ENST00000376381.2_Missense_Mutation_p.F364I|MBTD1_ENST00000415868.1_Missense_Mutation_p.F364I	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	364					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.F200I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GGTGTATCAAAATGTCCATCC	0.343																																																1	Substitution - Missense(1)	kidney(1)											95	92	93					17																	49279412		2202	4298	6500	SO:0001583	missense	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1090T>A	17.37:g.49279412A>T	ENSP00000468304:p.Phe364Ile		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378578	0.24944	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.22743	2.01;1.94	5.93	5.93	0.95920	.	0.399441	0.31542	N	0.007462	T	0.12092	0.0294	N	0.05280	-0.08	0.28410	N	0.918219	B;B;B	0.15473	0.001;0.013;0.003	B;B;B	0.11329	0.003;0.006;0.004	T	0.13953	-1.0490	10	0.22109	T	0.4	.	16.3789	0.83431	1.0:0.0:0.0:0.0	.	364;364;200	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	I	364	ENSP00000403946:F364I;ENSP00000365561:F364I	ENSP00000365561:F364I	F	-	1	0	MBTD1	46634411	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.154000	0.50693	2.267000	0.75376	0.533000	0.62120	TTT		0.343	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			T	49279412	A	T	49279412	3	4	249	1	0	0	0	0	1	0	0	0	9362	14	1	5	824	5	MBTD1	17	49279412	Missense_Mutation	SNP	A	TCGA-B2-5635-01A-01D-1534-10		49279412	31915798	47	15042											
MED13	9969	broad.mit.edu;hgsc.bcm.edu	37	17	60072679	60072679	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr17:60072679A>G	ENST00000397786.2	-	10	2091	c.2015T>C	c.(2014-2016)gTg>gCg	p.V672A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	672					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.V672A(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATATTGCTGCACTAATTCATC	0.294																																																1	Substitution - Missense(1)	kidney(1)											152	131	138					17																	60072679		1818	4077	5895	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2015T>C	17.37:g.60072679A>G	ENSP00000380888:p.Val672Ala		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.345899	0.41599	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74842	-0.88	5.3	5.3	0.74995	.	0.187011	0.46145	D	0.000311	T	0.65238	0.2672	L	0.43152	1.355	0.40962	D	0.98463	B	0.20368	0.044	B	0.18561	0.022	T	0.61417	-0.7067	10	0.08599	T	0.76	-1.6837	15.5342	0.75990	1.0:0.0:0.0:0.0	.	672	Q9UHV7	MED13_HUMAN	A	672;671	ENSP00000380888:V672A	ENSP00000262436:V671A	V	-	2	0	MED13	57427461	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.987000	0.88182	2.131000	0.65755	0.445000	0.29226	GTG		0.294	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		G	60072679	A	G	60072679	3	3	249	1	0	0	0	0	1	0	0	0	9432	159	6	3	4593	3	MED13	17	60072679	Missense_Mutation	SNP	A	TCGA-B2-5635-01A-01D-1534-10	10793267	60072679	21122531	48	15043											
CD300C	10871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72537855	72537855	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr17:72537855C>G	ENST00000330793.1	-	4	908	c.548G>C	c.(547-549)cGc>cCc	p.R183P		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	183					cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.R183P(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GAGCAGGAAGCGGACATTGCT	0.632																																					Esophageal Squamous(66;421 1121 20537 25337 27468)											1	Substitution - Missense(1)	kidney(1)											91	71	78					17																	72537855		2203	4300	6503	SO:0001583	missense	10871			BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.548G>C	17.37:g.72537855C>G	ENSP00000329507:p.Arg183Pro			Missense_Mutation	SNP	ENST00000330793.1	37	CCDS11701.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485538	0.26686	.	.	ENSG00000167850	ENST00000330793	T	0.03524	3.9	4.74	1.14	0.20703	.	0.803692	0.10638	N	0.651326	T	0.03783	0.0107	L	0.34521	1.04	0.22171	N	0.999316	P	0.52692	0.955	P	0.44561	0.453	T	0.46456	-0.9190	10	0.36615	T	0.2	.	6.0829	0.19950	0.0:0.3172:0.0:0.6828	.	183	Q08708	CLM6_HUMAN	P	183	ENSP00000329507:R183P	ENSP00000329507:R183P	R	-	2	0	CD300C	70049450	0.046000	0.20272	0.816000	0.32577	0.059000	0.15707	-0.025000	0.12413	0.379000	0.24794	-0.435000	0.05868	CGC		0.632	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		G	72537855	C	G	72537855	3	3	249	1	0	0	0	0	1	0	0	0	2999	768	27	4	130	4	CD300C	17	72537855	Missense_Mutation	SNP	C	TCGA-B2-5635-01A-01D-1534-10	12465176	72537855	8657355	49	15044											
DSG1	1828	broad.mit.edu;ucsc.edu	37	18	28935225	28935225	+	Silent	SNP	C	C	T			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr18:28935225C>T	ENST00000257192.4	+	15	3278	c.3066C>T	c.(3064-3066)caC>caT	p.H1022H	RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.H381H|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1022					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.H1022H(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTGACCATCACTTTAACCAAA	0.542																																																1	Substitution - coding silent(1)	kidney(1)											89	82	84					18																	28935225		2203	4300	6503	SO:0001819	synonymous_variant	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.3066C>T	18.37:g.28935225C>T			B7Z845	Silent	SNP	ENST00000257192.4	37	CCDS11896.1																																																																																				0.542	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		T	28935225	C	T	28935225	2	4	249	1	0	0	0	0	0	0	0	1	4778	564	20	2		2	DSG1	18	28935225	Silent	SNP	C	TCGA-B2-5635-01A-01D-1534-10		28935225	49142023	50	15045											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9066178	9066178	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr19:9066178G>C	ENST00000397910.4	-	3	21471	c.21268C>G	c.(21268-21270)Ctg>Gtg	p.L7090V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7092	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L7090V(2)|p.L2723V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATTTTCCAGAGAGGGAGAG	0.498																																																3	Substitution - Missense(3)	kidney(3)											137	138	137					19																	9066178		2012	4172	6184	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21268C>G	19.37:g.9066178G>C	ENSP00000381008:p.Leu7090Val		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.084	-0.188435	0.06299	.	.	ENSG00000181143	ENST00000397910	T	0.14893	2.47	2.61	-5.23	0.02798	.	.	.	.	.	T	0.04907	0.0132	N	0.02539	-0.55	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.34079	-0.9843	8	0.87932	D	0	.	1.1595	0.01802	0.3057:0.2505:0.3081:0.1357	.	7090	B5ME49	.	V	7090	ENSP00000381008:L7090V	ENSP00000381008:L7090V	L	-	1	2	MUC16	8927178	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.049000	0.11924	-1.263000	0.02455	-0.534000	0.04291	CTG		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9066178	G	C	9066178	3	2	249	1	0	0	0	0	1	0	0	0	9975	933	33	4	22583	4	MUC16	19	9066178	Missense_Mutation	SNP	G	TCGA-B2-5635-01A-01D-1534-10		9066178	50062805	51	15046											
ZNF433	163059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12125862	12125862	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr19:12125862A>G	ENST00000344980.6	-	4	1990	c.1820T>C	c.(1819-1821)aTg>aCg	p.M607T	CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.M572T|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M607T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CCTTCCATGCATTTGAAGTCG	0.473																																																1	Substitution - Missense(1)	kidney(1)											98	102	101					19																	12125862		2201	4299	6500	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1820T>C	19.37:g.12125862A>G	ENSP00000339767:p.Met607Thr		Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	A	2.434	-0.330140	0.05314	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.17213	2.29;2.29	1.22	-2.45	0.06481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07548	0.0190	N	0.16602	0.42	0.09310	N	1	B	0.30889	0.299	B	0.33196	0.159	T	0.32079	-0.9920	9	0.13108	T	0.6	.	2.4048	0.04410	0.2308:0.4915:0.1409:0.1369	.	607	Q8N7K0	ZN433_HUMAN	T	572;607	ENSP00000393416:M572T;ENSP00000339767:M607T	ENSP00000339767:M607T	M	-	2	0	ZNF433	11986862	0.000000	0.05858	0.000000	0.03702	0.804000	0.45430	-4.656000	0.00202	-2.344000	0.00622	0.254000	0.18369	ATG		0.473	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		G	12125862	A	G	12125862	3	3	249	1	0	0	0	0	1	0	0	0	17912	217	8	3	205	3	ZNF433	19	12125862	Missense_Mutation	SNP	A	TCGA-B2-5635-01A-01D-1534-10	3059684	12125862	47003121	52	15047											
ZNF99	7652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	22952718	22952718	+	Intron	SNP	C	C	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr19:22952718C>A	ENST00000596209.1	-	2	94				ZNF99_ENST00000397104.3_Splice_Site	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATAACATGTACATTTTTGAGT	0.313																																																1	Unknown(1)	kidney(1)											64	64	64					19																	22952718		1835	4079	5914	SO:0001627	intron_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.4-592G>T	19.37:g.22952718C>A			M0R335	Splice_Site	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	.	0.143	-1.100088	0.01843	.	.	ENSG00000213973	ENST00000397104	.	.	.	0.559	-0.705	0.11252	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF99	22744558	0.003000	0.15002	0.010000	0.14722	0.036000	0.12997	-1.901000	0.01597	-0.262000	0.09392	0.423000	0.28283	.		0.313	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		A	22952718	C	A	22952718	1	1	249	0	1	0	0	0	0	0	0	0	18209	492	17	4		4	ZNF99	19	22952718	Intron	SNP	C	TCGA-B2-5635-01A-01D-1534-10	10826856	22952718	36176265	53	15048											
SLC5A3	6526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	35467806	35467806	+	Silent	SNP	G	G	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr21:35467806G>C	ENST00000381151.3	+	2	821	c.309G>C	c.(307-309)cgG>cgC	p.R103R	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Silent_p.R103R			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	103					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)	p.R103R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TTTACATCCGGTCAGGGGTAT	0.448																																																1	Substitution - coding silent(1)	kidney(1)											178	175	176					21																	35467806		2203	4300	6503	SO:0001819	synonymous_variant	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.309G>C	21.37:g.35467806G>C			O43489	Silent	SNP	ENST00000381151.3	37	CCDS33549.1																																																																																				0.448	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			C	35467806	G	C	35467806	2	2	249	1	0	0	0	0	0	0	0	1	14672	1248	44	4		4	SLC5A3	21	35467806	Silent	SNP	G	TCGA-B2-5635-01A-01D-1534-10		35467806	12662089	54	15049											
EIF4G3	8672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21226401	21226401	+	Silent	SNP	T	T	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr1:21226401T>C	ENST00000264211.8	-	10	1814	c.1620A>G	c.(1618-1620)gtA>gtG	p.V540V	EIF4G3_ENST00000374935.3_Silent_p.V260V|EIF4G3_ENST00000537738.1_5'UTR|EIF4G3_ENST00000374937.3_Silent_p.V546V|EIF4G3_ENST00000544689.1_Silent_p.V83V|EIF4G3_ENST00000400422.1_Silent_p.V540V|EIF4G3_ENST00000536266.1_Silent_p.V144V|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000602326.1_Silent_p.V546V	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	540					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.V546V(1)|p.V540V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGATTCAAGTACTTTGTCAA	0.358																																																2	Substitution - coding silent(2)	kidney(2)											120	130	127					1																	21226401		2203	4300	6503	SO:0001819	synonymous_variant	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1620A>G	1.37:g.21226401T>C			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																				0.358	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		C	21226401	T	C	21226401	2	2	250	1	0	0	0	0	0	0	0	1	5040	1625	57	3		3	EIF4G3	1	21226401	Silent	SNP	T	TCGA-B2-5641-01A-01D-1534-10		21226401	228024220	1	15050											
C8B	732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	57415368	57415368	+	Missense_Mutation	SNP	G	G	A	rs150146785	byFrequency	TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr1:57415368G>A	ENST00000371237.4	-	6	790	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	C8B_ENST00000535057.1_Missense_Mutation_p.R180C|C8B_ENST00000543257.1_Missense_Mutation_p.R190C	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	242	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.R242C(1)|p.R242G(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTGACATTGCGTTCAAAATCT	0.338													G|||	5	0.000998403	0.003	0.0014	5008	,	,		21122	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	ovary(1)|kidney(1)						G	CYS/ARG	10,4394	16.8+/-37.8	0,10,2192	88	87	87		724	3.2	0.1	1	dbSNP_134	87	0,8598		0,0,4299	yes	missense	C8B	NM_000066.2	180	0,10,6491	AA,AG,GG		0.0,0.2271,0.0769	probably-damaging	242/592	57415368	10,12992	2202	4299	6501	SO:0001583	missense	732			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.724C>T	1.37:g.57415368G>A	ENSP00000360281:p.Arg242Cys		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	CCDS30730.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	15.89	2.967081	0.53507	0.002271	0.0	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.29142	1.74;1.75;1.58	5.19	3.19	0.36642	Membrane attack complex component/perforin (MACPF) domain (1);	1.053100	0.07284	N	0.871299	T	0.35711	0.0941	L	0.50333	1.59	0.09310	N	0.999997	D;D;D	0.60160	0.987;0.987;0.978	P;P;B	0.46825	0.528;0.528;0.328	T	0.24476	-1.0159	10	0.72032	D	0.01	-0.8703	9.8148	0.40846	0.0801:0.0:0.7048:0.2151	.	190;180;242	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	C	242;190;180	ENSP00000360281:R242C;ENSP00000442548:R190C;ENSP00000440113:R180C	ENSP00000360281:R242C	R	-	1	0	C8B	57187956	0.009000	0.17119	0.125000	0.21846	0.376000	0.30014	-0.028000	0.12350	1.318000	0.45170	0.591000	0.81541	CGC		0.338	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			A	57415368	G	A	57415368	3	1	250	1	0	0	0	0	1	0	0	0	2419	1145	40	1	1079	1	C8B	1	57415368	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10	36188967	57415368	191835253	2	15051											
SLC44A3	126969	broad.mit.edu;ucsc.edu	37	1	95286513	95286513	+	Silent	SNP	A	A	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr1:95286513A>G	ENST00000271227.6	+	2	138	c.36A>G	c.(34-36)gcA>gcG	p.A12A	SLC44A3_ENST00000529450.1_Silent_p.A12A|LINC01057_ENST00000452922.1_lincRNA|SLC44A3_ENST00000467909.1_Intron|SLC44A3_ENST00000446120.2_Intron|SLC44A3_ENST00000527077.1_Intron|SLC44A3_ENST00000532427.1_Intron	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	12					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A12A(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AGGTTTCTGCAGAAGGAGCCC	0.473																																																1	Substitution - coding silent(1)	kidney(1)											143	120	127					1																	95286513		692	1591	2283	SO:0001819	synonymous_variant	126969			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.36A>G	1.37:g.95286513A>G			B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Silent	SNP	ENST00000271227.6	37	CCDS44176.1																																																																																				0.473	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		G	95286513	A	G	95286513	2	3	250	1	0	0	0	0	0	0	0	1	14643	175	7	3		3	SLC44A3	1	95286513	Silent	SNP	A	TCGA-B2-5641-01A-01D-1534-10	37871145	95286513	153964108	3	15052											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201029869	201029869	+	Missense_Mutation	SNP	C	C	T	rs200558548		TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr1:201029869C>T	ENST00000362061.3	-	26	3557	c.3331G>A	c.(3331-3333)Gtg>Atg	p.V1111M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V1111M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1111					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.V1111M(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGTACCACACCTGGTACTGG	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22203	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											294	282	286					1																	201029869		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3331G>A	1.37:g.201029869C>T	ENSP00000355192:p.Val1111Met		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	19.43	3.825921	0.71143	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96459	-4.02;-3.94	5.17	5.17	0.71159	.	0.183297	0.47455	D	0.000225	D	0.96713	0.8927	M	0.61703	1.905	0.40942	D	0.984471	P	0.52692	0.955	P	0.58454	0.839	D	0.96736	0.9543	10	0.72032	D	0.01	.	10.6754	0.45783	0.0:0.8754:0.0:0.1246	.	1111	Q13698	CAC1S_HUMAN	M	1111	ENSP00000355192:V1111M;ENSP00000356307:V1111M	ENSP00000355192:V1111M	V	-	1	0	CACNA1S	199296492	0.943000	0.32029	1.000000	0.80357	0.991000	0.79684	0.878000	0.28126	2.545000	0.85829	0.655000	0.94253	GTG		0.527	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201029869	C	T	201029869	3	4	250	1	0	0	0	0	1	0	0	0	2549	507	18	2	2366	2	CACNA1S	1	201029869	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10	105743356	201029869	48220752	4	15053											
SPRED2	200734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	65541212	65541212	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr2:65541212C>T	ENST00000356388.4	-	6	869	c.680G>A	c.(679-681)gGg>gAg	p.G227E	SPRED2_ENST00000474228.1_5'Flank|SPRED2_ENST00000443619.2_Missense_Mutation_p.G224E	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	227	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.G227E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						ATCCTCGTACCCCGTCATCCA	0.672																																																1	Substitution - Missense(1)	kidney(1)											52	49	50					2																	65541212		2203	4300	6503	SO:0001583	missense	200734			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.680G>A	2.37:g.65541212C>T	ENSP00000348753:p.Gly227Glu		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	c	28.0	4.882407	0.91740	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.80214	-1.31;-1.34;-1.35;-0.24	5.55	5.55	0.83447	c-Kit-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89427	0.6712	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	D	0.88424	0.3030	10	0.44086	T	0.13	-26.2523	19.5022	0.95100	0.0:1.0:0.0:0.0	.	224;227	E9PEP0;Q7Z698	.;SPRE2_HUMAN	E	227;224;242;109	ENSP00000348753:G227E;ENSP00000393697:G224E;ENSP00000390595:G242E;ENSP00000407627:G109E	ENSP00000348753:G227E	G	-	2	0	SPRED2	65394716	1.000000	0.71417	0.428000	0.26697	0.955000	0.61496	7.747000	0.85070	2.608000	0.88229	0.586000	0.80456	GGG		0.672	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			T	65541212	C	T	65541212	3	4	250	1	0	0	0	0	1	0	0	0	15098	623	22	2	580	2	SPRED2	2	65541212	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10		65541212	177658161	5	15054											
FBXO41	150726	broad.mit.edu;hgsc.bcm.edu	37	2	73496700	73496700	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr2:73496700C>T	ENST00000521871.1	-	2	474	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	FBXO41_ENST00000520530.2_Missense_Mutation_p.R20Q|FBXO41_ENST00000295133.5_Missense_Mutation_p.R81Q|FBXO41_ENST00000520186.1_5'Flank			Q8TF61	FBX41_HUMAN	F-box protein 41	20								p.R20Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CGACAGGCTCCGGAAGCGCTT	0.736																																																1	Substitution - Missense(1)	kidney(1)											7	10	8					2																	73496700		1424	2593	4017	SO:0001583	missense	150726			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.59G>A	2.37:g.73496700C>T	ENSP00000428646:p.Arg20Gln		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	c	25.7	4.662529	0.88251	.	.	ENSG00000163013	ENST00000295133;ENST00000521871;ENST00000520530	.	.	.	5.15	4.26	0.50523	Zinc finger, C2H2-like (1);	0.068973	0.64402	D	0.000014	T	0.55226	0.1907	L	0.55481	1.735	0.80722	D	1	P	0.49862	0.929	B	0.42798	0.398	T	0.60791	-0.7193	9	0.54805	T	0.06	-7.7665	14.7315	0.69386	0.0:0.8539:0.1461:0.0	.	20	Q8TF61	FBX41_HUMAN	Q	81;20;81	.	ENSP00000295133:R81Q	R	-	2	0	FBXO41	73350208	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	7.320000	0.79064	1.296000	0.44742	0.175000	0.17021	CGG		0.736	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			T	73496700	C	T	73496700	3	4	250	1	0	0	0	0	1	0	0	0	5752	652	23	1	2616	1	FBXO41	2	73496700	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10	7955488	73496700	169702673	6	15055											
MAP3K2	10746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128066323	128066323	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr2:128066323C>A	ENST00000409947.1	-	16	1754	c.1472G>T	c.(1471-1473)cGa>cTa	p.R491L	MAP3K2_ENST00000344908.5_Missense_Mutation_p.R491L			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R491L(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	TGTTGAATCTCGCAGGATATT	0.428																																																1	Substitution - Missense(1)	kidney(1)											87	85	86					2																	128066323		1892	4119	6011	SO:0001583	missense	10746			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1472G>T	2.37:g.128066323C>A	ENSP00000387246:p.Arg491Leu		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576318	0.65878	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.58940	0.3;0.3	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	N	0.00101	-2.135	0.80722	D	1	B	0.27625	0.183	B	0.35550	0.205	T	0.49409	-0.8943	10	0.30078	T	0.28	.	19.7201	0.96139	0.0:1.0:0.0:0.0	.	491	Q9Y2U5	M3K2_HUMAN	L	491	ENSP00000387246:R491L;ENSP00000343463:R491L	ENSP00000343463:R491L	R	-	2	0	MAP3K2	127782793	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.731000	0.84895	2.661000	0.90470	0.561000	0.74099	CGA		0.428	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		A	128066323	C	A	128066323	3	1	250	1	0	0	0	0	1	0	0	0	9252	884	31	4	395	4	MAP3K2	2	128066323	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10	54569623	128066323	115133050	7	15056											
SCN7A	6332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	167328884	167328884	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr2:167328884G>A	ENST00000409855.1	-	5	641	c.515C>T	c.(514-516)tCa>tTa	p.S172L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	172					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S172L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GAAGGAAAATGATCCTGCCCA	0.343																																																2	Substitution - Missense(2)	kidney(2)											50	51	50					2																	167328884		1881	4147	6028	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.515C>T	2.37:g.167328884G>A	ENSP00000386796:p.Ser172Leu			Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860219	0.32884	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98567	-5.0;-5.0;-5.0	5.37	4.43	0.53597	Ion transport (1);	0.872025	0.09761	N	0.759317	D	0.96043	0.8711	L	0.38175	1.15	0.09310	N	1	P	0.35226	0.491	B	0.33846	0.171	D	0.92304	0.5852	10	0.72032	D	0.01	.	13.0407	0.58897	0.0:0.0:0.7734:0.2266	.	172	Q01118	SCN7A_HUMAN	L	172	ENSP00000386796:S172L;ENSP00000413699:S172L;ENSP00000403846:S172L	ENSP00000259060:S172L	S	-	2	0	SCN7A	167037130	0.000000	0.05858	0.184000	0.23157	0.935000	0.57460	-0.170000	0.09897	2.675000	0.91044	0.655000	0.94253	TCA		0.343	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			A	167328884	G	A	167328884	3	1	250	1	0	0	0	0	1	0	0	0	13929	1294	45	2	4617	2	SCN7A	2	167328884	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10	39262561	167328884	75870489	8	15057											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179439168	179439168	+	Nonsense_Mutation	SNP	A	A	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr2:179439168A>C	ENST00000591111.1	-	276	66992	c.66768T>G	c.(66766-66768)taT>taG	p.Y22256*	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y15024*|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y14957*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y14832*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y23897*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y21329*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22256	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y15024*(1)|p.Y21327*(1)|p.Y21329*(1)|p.Y14832*(1)|p.Y14957*(1)		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)			CCCGGAACTCATAAGCAATAC	0.438																																																5	Substitution - Nonsense(5)	kidney(5)											229	228	228					2																	179439168		1929	4128	6057	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66768T>G	2.37:g.179439168A>C	ENSP00000465570:p.Tyr22256*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	62	68.887003	0.99991	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9003	0.79369	1.0:0.0:0.0:0.0	.	.	.	.	X	21329;14832;15024;14957;14830	.	ENSP00000340554:Y15024X	Y	-	3	2	TTN	179147414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.476000	0.81055	2.166000	0.68216	0.455000	0.32223	TAT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179439168	A	C	179439168	4	2	250	1	0	0	0	0	0	1	0	0	16740	224	8	5	36436	5	TTN	2	179439168	Nonsense_Mutation	SNP	A	TCGA-B2-5641-01A-01D-1534-10	12110284	179439168	63760205	9	15058											
PDE6B	5158	broad.mit.edu;ucsc.edu	37	4	649741	649741	+	Silent	SNP	C	C	G	rs370605672		TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr4:649741C>G	ENST00000496514.1	+	7	1026	c.1005C>G	c.(1003-1005)gcC>gcG	p.A335A	PDE6B_ENST00000255622.6_Silent_p.A335A|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000599030.1_RNA|RP11-1191J2.2_ENST00000598370.1_RNA|PDE6B_ENST00000429163.2_Silent_p.A56A			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	335	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.A335A(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CACCCTCAGCCGATCACTGGG	0.647																																					GBM(71;463 1194 9848 25922 46834)											1	Substitution - coding silent(1)	kidney(1)											83	76	79					4																	649741		2203	4300	6503	SO:0001819	synonymous_variant	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1005C>G	4.37:g.649741C>G			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	CCDS33932.1																																																																																				0.647	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		G	649741	C	G	649741	2	3	250	1	0	0	0	0	0	0	0	1	11648	639	23	4		4	PDE6B	4	649741	Silent	SNP	C	TCGA-B2-5641-01A-01D-1534-10		649741	190504535	10	15059											
PGM2	55276	broad.mit.edu;ucsc.edu	37	4	37839173	37839173	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr4:37839173A>G	ENST00000381967.4	+	4	479	c.379A>G	c.(379-381)Aca>Gca	p.T127A	PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	127					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)	p.T127A(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TGCTGCAACCACATTTATCAG	0.443																																																1	Substitution - Missense(1)	kidney(1)											214	196	202					4																	37839173		2203	4300	6503	SO:0001583	missense	55276			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.379A>G	4.37:g.37839173A>G	ENSP00000371393:p.Thr127Ala		B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.901732	0.33535	.	.	ENSG00000169299	ENST00000381967	T	0.62105	0.05	5.6	1.56	0.23342	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.261879	0.44483	N	0.000454	T	0.37571	0.1008	N	0.05554	-0.025	0.58432	D	0.999997	B	0.02656	0.0	B	0.10450	0.005	T	0.08391	-1.0724	10	0.32370	T	0.25	-3.9779	9.7799	0.40643	0.7643:0.0:0.2357:0.0	.	127	Q96G03	PGM2_HUMAN	A	127	ENSP00000371393:T127A	ENSP00000371393:T127A	T	+	1	0	PGM2	37515568	0.999000	0.42202	0.807000	0.32361	0.923000	0.55619	2.906000	0.48735	0.445000	0.26639	0.524000	0.50904	ACA		0.443	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		G	37839173	A	G	37839173	3	3	250	1	0	0	0	0	1	0	0	0	11800	159	6	3	393	3	PGM2	4	37839173	Missense_Mutation	SNP	A	TCGA-B2-5641-01A-01D-1534-10	37189432	37839173	153315103	11	15060											
CENPC1	1060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	68358686	68358686	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr4:68358686G>C	ENST00000273853.6	-	15	2570	c.2320C>G	c.(2320-2322)Cca>Gca	p.P774A		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	774					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.P774A(1)									ATTGTGTCTGGAGATAGTACT	0.299																																																1	Substitution - Missense(1)	kidney(1)											78	63	67					4																	68358686		1785	4020	5805	SO:0001583	missense	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2320C>G	4.37:g.68358686G>C	ENSP00000273853:p.Pro774Ala		Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467156	0.26335	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.65	4.65	0.58169	.	0.345212	0.25106	N	0.033096	T	0.61899	0.2384	L	0.57536	1.79	0.33672	D	0.611064	P	0.52463	0.953	P	0.57152	0.814	T	0.67699	-0.5603	9	0.34782	T	0.22	-16.9008	13.3355	0.60515	0.0:0.0:1.0:0.0	.	774	Q03188	CENPC_HUMAN	A	774	.	ENSP00000273853:P774A	P	-	1	0	CENPC1	68041281	1.000000	0.71417	0.978000	0.43139	0.012000	0.07955	5.085000	0.64468	2.854000	0.98071	0.655000	0.94253	CCA		0.299	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			C	68358686	G	C	68358686	3	2	250	1	0	0	0	0	1	0	0	0	3231	1174	41	4	531	4	CENPC1	4	68358686	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10	30519513	68358686	122795590	12	15061											
KIAA1109	84162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	123150305	123150305	+	Silent	SNP	T	T	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr4:123150305T>C	ENST00000264501.4	+	25	3325	c.2952T>C	c.(2950-2952)acT>acC	p.T984T	KIAA1109_ENST00000388738.3_Silent_p.T984T|KIAA1109_ENST00000455637.1_Silent_p.T984T|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	984					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T984T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTGTCCAACTTCAGATGATT	0.323																																																1	Substitution - coding silent(1)	kidney(1)											207	193	198					4																	123150305		1864	4109	5973	SO:0001819	synonymous_variant	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2952T>C	4.37:g.123150305T>C			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	9.396	1.076650	0.20227	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.33	-0.0113	0.13993	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22521	-1.0214	4	.	.	.	.	0.9972	0.01470	0.4442:0.207:0.1147:0.2341	.	.	.	.	L	816	.	.	F	+	1	0	KIAA1109	123369755	0.878000	0.30173	1.000000	0.80357	0.992000	0.81027	-0.019000	0.12546	0.060000	0.16281	-0.496000	0.04628	TTC		0.323	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123150305	T	C	123150305	2	2	250	1	0	0	0	0	0	0	0	1	8210	1596	56	3		3	KIAA1109	4	123150305	Silent	SNP	T	TCGA-B2-5641-01A-01D-1534-10	54791619	123150305	68003971	13	15062	119	2									
KIAA1109	84162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	123150307	123150307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr4:123150307C>A	ENST00000264501.4	+	25	3327	c.2954C>A	c.(2953-2955)tCa>tAa	p.S985*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.S985*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.S985*|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	985					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S985*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGTCCAACTTCAGATGATTTG	0.323																																																1	Substitution - Nonsense(1)	kidney(1)											208	193	198					4																	123150307		1865	4113	5978	SO:0001587	stop_gained	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2954C>A	4.37:g.123150307C>A	ENSP00000264501:p.Ser985*		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.478903|6.478903	0.97598|0.97598	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637;ENST00000449251	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|2.031630	.|0.03178	.|N	.|0.171716	T|.	0.41511|.	0.1162|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.25916|.	-1.0118|.	3|.	.|0.02654	.|T	.|1	.|.	19.3889|19.3889	0.94570|0.94570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	816|985;985;985;150	.|.	.|ENSP00000264501:S985X	F|S	+|+	3|2	2|0	KIAA1109|KIAA1109	123369757|123369757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.605000|7.605000	0.82844|0.82844	2.637000|2.637000	0.89404|0.89404	0.561000|0.561000	0.74099|0.74099	TTC|TCA		0.323	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123150307	C	A	123150307	4	1	250	1	0	0	0	0	0	1	0	0	8210	838	29	4	3044	4	KIAA1109	4	123150307	Nonsense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10	2	123150307	68003969	14	15063	119	2									
FNIP2	57600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	159789573	159789573	+	Silent	SNP	G	G	C	rs143166945	byFrequency	TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr4:159789573G>C	ENST00000264433.6	+	13	1860	c.1785G>C	c.(1783-1785)ccG>ccC	p.P595P	FNIP2_ENST00000379346.3_Silent_p.P618P	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	595	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P595P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		ACCCCTGGCCGACAGGGTTTC	0.562																																																1	Substitution - coding silent(1)	kidney(1)											54	58	57					4																	159789573		1956	4146	6102	SO:0001819	synonymous_variant	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1785G>C	4.37:g.159789573G>C			Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	CCDS47155.1																																																																																				0.562	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		C	159789573	G	C	159789573	2	2	250	1	0	0	0	0	0	0	0	1	5978	1045	37	4		4	FNIP2	4	159789573	Silent	SNP	G	TCGA-B2-5641-01A-01D-1534-10	36639266	159789573	31364703	15	15064											
SNX25	83891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	186244946	186244946	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr4:186244946G>A	ENST00000504273.1	+	9	1543	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	SNX25_ENST00000264694.8_Missense_Mutation_p.D417N|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	417					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.D417N(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TTCCAACAAGGATGAGATGGT	0.348																																																1	Substitution - Missense(1)	kidney(1)											50	46	47					4																	186244946		2203	4298	6501	SO:0001583	missense	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1249G>A	4.37:g.186244946G>A	ENSP00000426255:p.Asp417Asn		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	.	17.93	3.508396	0.64410	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.10099	2.91;2.91	5.82	4.98	0.66077	.	0.571224	0.20053	N	0.100247	T	0.12390	0.0301	L	0.47716	1.5	0.45837	D	0.998706	P;P	0.43094	0.799;0.651	B;B	0.40901	0.343;0.154	T	0.11817	-1.0572	10	0.21540	T	0.41	-9.1468	14.9378	0.70970	0.0684:0.0:0.9316:0.0	.	188;417	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	N	417	ENSP00000426255:D417N;ENSP00000264694:D417N	ENSP00000264694:D417N	D	+	1	0	SNX25	186481940	1.000000	0.71417	0.896000	0.35187	0.469000	0.32828	4.800000	0.62524	1.473000	0.48159	-0.258000	0.10820	GAT		0.348	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		A	186244946	G	A	186244946	3	1	250	1	0	0	0	0	1	0	0	0	14902	1174	41	2	1279	2	SNX25	4	186244946	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10	26455373	186244946	4909330	16	15065											
SLC12A7	10723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	1065466	1065466	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr5:1065466G>A	ENST00000264930.5	-	18	2412	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	790					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.T790M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CATGAGCACCGTGTTGTGCTT	0.647																																																1	Substitution - Missense(1)	kidney(1)											66	66	66					5																	1065466		2203	4300	6503	SO:0001583	missense	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2369C>T	5.37:g.1065466G>A	ENSP00000264930:p.Thr790Met		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.405502	0.83230	.	.	ENSG00000113504	ENST00000264930	D	0.93763	-3.28	4.49	4.49	0.54785	.	0.055962	0.64402	D	0.000001	D	0.97049	0.9036	M	0.90483	3.12	0.58432	D	0.999995	D	0.89917	1.0	D	0.70716	0.97	D	0.98065	1.0395	10	0.87932	D	0	.	15.7172	0.77677	0.0:0.0:1.0:0.0	.	790	Q9Y666	S12A7_HUMAN	M	790	ENSP00000264930:T790M	ENSP00000264930:T790M	T	-	2	0	SLC12A7	1118466	1.000000	0.71417	0.960000	0.40013	0.820000	0.46376	8.621000	0.90949	2.055000	0.61198	0.467000	0.42956	ACG		0.647	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		A	1065466	G	A	1065466	3	1	250	1	0	0	0	0	1	0	0	0	14394	1145	40	1	910	1	SLC12A7	5	1065466	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10		1065466	179849794	17	15066											
DDX4	54514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	55086409	55086409	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr5:55086409G>A	ENST00000505374.1	+	16	1270	c.1178G>A	c.(1177-1179)tGt>tAt	p.C393Y	DDX4_ENST00000511853.1_Missense_Mutation_p.C244Y|DDX4_ENST00000514278.2_Missense_Mutation_p.C373Y|DDX4_ENST00000353507.5_Missense_Mutation_p.C359Y|DDX4_ENST00000354991.5_Missense_Mutation_p.C359Y	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	393	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.C244Y(1)|p.C393Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AATAGGACTTGTGTAAGAGCT	0.318																																																2	Substitution - Missense(2)	kidney(2)											95	100	99					5																	55086409		2203	4300	6503	SO:0001583	missense	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1178G>A	5.37:g.55086409G>A	ENSP00000424838:p.Cys393Tyr		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832535	0.71258	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.86	5.86	0.93980	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41650	0.1168	N	0.01576	-0.805	0.52501	D	0.999957	B;D;B;D	0.89917	0.251;0.999;0.126;1.0	B;D;B;D	0.91635	0.159;0.99;0.07;0.999	T	0.65232	-0.6218	10	0.66056	D	0.02	-21.6212	20.2019	0.98263	0.0:0.0:1.0:0.0	.	373;244;359;393	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	Y	359;373;393;373;359;244	ENSP00000334167:C359Y;ENSP00000425359:C373Y;ENSP00000424838:C393Y;ENSP00000427167:C373Y;ENSP00000347087:C359Y;ENSP00000423123:C244Y	ENSP00000334167:C359Y	C	+	2	0	DDX4	55122166	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.241000	0.78201	2.776000	0.95493	0.655000	0.94253	TGT		0.318	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		A	55086409	G	A	55086409	3	1	250	1	0	0	0	0	1	0	0	0	4362	1377	48	2	1277	2	DDX4	5	55086409	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10	54020943	55086409	125828851	18	15067											
FBN2	2201	hgsc.bcm.edu;ucsc.edu	37	5	127647000	127647000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr5:127647000delA	ENST00000508053.1	-	45	6040	c.5066delT	c.(5065-5067)atcfs	p.I1689fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.I1689fs			P35556	FBN2_HUMAN	fibrillin 2	1689	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCTTCACAGATGCGGGTATC	0.498																																																0													70	58	62					5																	127647000		2203	4300	6503	SO:0001589	frameshift_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5066delT	5.37:g.127647000delA	ENSP00000424571:p.Ile1689fs		B4DU01|Q59ES6	Frame_Shift_Del	DEL	ENST00000508053.1	37	CCDS34222.1																																																																																				0.498	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		-	127647000	A	-	127647000	7	5	250	1	0	1	0	1	0	0	0	0	5705	333	12	0	3780	0	FBN2	5	127647000	Frame_Shift_Del	DEL	A	TCGA-B2-5641-01A-01D-1534-10	72560591	127647000	53268260	19	15068											
FAM13B	51306	broad.mit.edu;ucsc.edu	37	5	137278882	137278882	+	Silent	SNP	C	C	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr5:137278882C>T	ENST00000033079.3	-	20	2749	c.2298G>A	c.(2296-2298)agG>agA	p.R766R	FAM13B_ENST00000425075.2_Silent_p.R642R|FAM13B_ENST00000420893.2_Silent_p.R738R	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	766					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R766R(1)|p.R642R(1)		endometrium(4)|kidney(2)|lung(5)	11						ACATCTGACCCCTTCGCTTGG	0.338																																																2	Substitution - coding silent(2)	kidney(2)											111	111	111					5																	137278882		2203	4300	6503	SO:0001819	synonymous_variant	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2298G>A	5.37:g.137278882C>T			D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	37	CCDS4195.1																																																																																				0.338	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			T	137278882	C	T	137278882	2	4	250	1	0	0	0	0	0	0	0	1	5455	622	22	2		2	FAM13B	5	137278882	Silent	SNP	C	TCGA-B2-5641-01A-01D-1534-10	9631882	137278882	43636378	20	15069											
KIF20A	10112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137519224	137519224	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr5:137519224A>G	ENST00000394894.3	+	9	1319	c.1093A>G	c.(1093-1095)Aac>Gac	p.N365D	KIF20A_ENST00000508792.1_Missense_Mutation_p.N347D	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	365	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.N365D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGGTCGTAAGAACCAGAGCTT	0.498																																																1	Substitution - Missense(1)	kidney(1)											88	92	91					5																	137519224		2203	4300	6503	SO:0001583	missense	10112			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1093A>G	5.37:g.137519224A>G	ENSP00000378356:p.Asn365Asp		B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218062	0.79352	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.76316	-1.01;-1.01	4.88	4.88	0.63580	Kinesin, motor domain (4);	0.000000	0.48767	D	0.000172	D	0.90652	0.7068	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.92990	0.6414	10	0.72032	D	0.01	-18.6504	14.6592	0.68858	1.0:0.0:0.0:0.0	.	347;365	B4DL79;O95235	.;KI20A_HUMAN	D	365;347	ENSP00000378356:N365D;ENSP00000420880:N347D	ENSP00000378356:N365D	N	+	1	0	KIF20A	137547123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.061000	0.61500	0.533000	0.62120	AAC		0.498	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		G	137519224	A	G	137519224	3	3	250	1	0	0	0	0	1	0	0	0	8288	246	9	3	1123	3	KIF20A	5	137519224	Missense_Mutation	SNP	A	TCGA-B2-5641-01A-01D-1534-10	240342	137519224	43396036	21	15070											
PCDHB8	56128	broad.mit.edu	37	5	140559035	140559035	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr5:140559035G>A	ENST00000239444.2	+	1	1665	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	474	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)	p.V474I(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCGGCAGCGTCAGCGCCAC	0.662																																																2	Substitution - Missense(2)	endometrium(1)|kidney(1)											80	122	108					5																	140559035		2203	4293	6496	SO:0001583	missense	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1420G>A	5.37:g.140559035G>A	ENSP00000239444:p.Val474Ile		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260842	0.23051	.	.	ENSG00000120322	ENST00000239444	T	0.02787	4.16	4.26	1.9	0.25705	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03520	0.0101	L	0.51853	1.615	0.09310	N	0.999999	B	0.21071	0.051	B	0.24006	0.05	T	0.43081	-0.9413	9	0.25106	T	0.35	.	7.5775	0.27944	0.4462:0.0:0.5538:0.0	.	474	Q9UN66	PCDB8_HUMAN	I	474	ENSP00000239444:V474I	ENSP00000239444:V474I	V	+	1	0	PCDHB8	140539219	0.020000	0.18652	0.998000	0.56505	0.970000	0.65996	0.204000	0.17335	0.466000	0.27193	0.305000	0.20034	GTC		0.662	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		A	140559035	G	A	140559035	3	1	250	1	0	0	0	0	1	0	0	0	11550	1145	40	1	1422	1	PCDHB8	5	140559035	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10	3039811	140559035	40356225	22	15071											
BTNL3	10917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180432814	180432814	+	Missense_Mutation	SNP	C	C	T	rs201813197		TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr5:180432814C>T	ENST00000342868.6	+	8	1527	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	448	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.A448V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ATCCAGCATGCGATGTATGAC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		20078	0.0		0.001	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(1)|endometrium(1)						C	VAL/ALA	0,3898		0,0,1949	80	74	76		1343	-4.4	0	5		76	5,8281		0,5,4138	yes	missense	BTNL3	NM_197975.2	64	0,5,6087	TT,TC,CC		0.0603,0.0,0.041	benign	448/467	180432814	5,12179	1949	4143	6092	SO:0001583	missense	10917			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1343C>T	5.37:g.180432814C>T	ENSP00000341787:p.Ala448Val		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	CCDS47358.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.001	-3.030549	0.00041	0.0	6.03E-4	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.60548	0.18	2.2	-4.4	0.03600	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.33235	0.0856	L	0.32530	0.975	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.23190	-1.0195	9	0.12766	T	0.61	.	0.6801	0.00873	0.163:0.1973:0.2502:0.3895	.	414;448	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	V	448;414	ENSP00000341787:A448V	ENSP00000341787:A448V	A	+	2	0	BTNL3	180365420	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.340000	0.01101	-2.964000	0.00289	-2.769000	0.00120	GCG		0.493	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		T	180432814	C	T	180432814	3	4	250	1	0	0	0	0	1	0	0	0	1568	768	27	1	1373	1	BTNL3	5	180432814	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10	39873779	180432814	482446	23	15072											
DAXX	1616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33287883	33287883	+	Missense_Mutation	SNP	T	T	A	rs200567881	byFrequency	TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr6:33287883T>A	ENST00000374542.5	-	5	1574	c.1370A>T	c.(1369-1371)gAg>gTg	p.E457V	ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.E457V|DAXX_ENST00000414083.2_Missense_Mutation_p.E382V|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	457	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E457V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ATCTGTGGcctcctcctcttc	0.552			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	1	Substitution - Missense(1)	kidney(1)											150	112	125					6																	33287883		2203	4300	6503	SO:0001583	missense	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1370A>T	6.37:g.33287883T>A	ENSP00000363668:p.Glu457Val		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.945297	0.34283	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	T;T	0.08193	3.12;3.12	4.31	4.31	0.51392	Armadillo-like helical (1);	0.291758	0.31381	N	0.007743	T	0.12135	0.0295	L	0.57536	1.79	0.43936	D	0.996591	D;D	0.56746	0.977;0.977	P;P	0.62298	0.9;0.9	T	0.00708	-1.1600	10	0.62326	D	0.03	-0.0089	9.7983	0.40748	0.0:0.0:0.0:1.0	.	469;457	B4E1C1;Q9UER7	.;DAXX_HUMAN	V	457;457;382	ENSP00000266000:E457V;ENSP00000363668:E457V	ENSP00000266000:E457V	E	-	2	0	DAXX	33395861	0.999000	0.42202	0.791000	0.31998	0.919000	0.55068	4.679000	0.61649	1.808000	0.52836	0.443000	0.29094	GAG		0.552	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			A	33287883	T	A	33287883	3	1	250	1	0	0	0	0	1	0	0	0	4245	1551	54	5	868	5	DAXX	6	33287883	Missense_Mutation	SNP	T	TCGA-B2-5641-01A-01D-1534-10		33287883	137827184	24	15073											
CLDN12	9069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	90042424	90042424	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr7:90042424C>G	ENST00000287916.4	+	3	721	c.434C>G	c.(433-435)aCt>aGt	p.T145S	CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000535571.1_Missense_Mutation_p.T145S|CLDN12_ENST00000394605.2_Missense_Mutation_p.T145S	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	145					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.T145S(2)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CTGGCAGGTACTGTGAGCCTC	0.488																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											159	147	151					7																	90042424		2203	4300	6503	SO:0001583	missense	9069			AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"Claudins"	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.434C>G	7.37:g.90042424C>G	ENSP00000287916:p.Thr145Ser		D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	C	9.208	1.030135	0.19512	.	.	ENSG00000157224	ENST00000422604;ENST00000416322;ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394604;ENST00000394605	T;T;T;T;T;T	0.73363	-0.56;-0.74;-0.74;-0.74;-0.52;-0.74	5.45	0.15	0.14883	.	0.272379	0.42053	D	0.000771	T	0.48960	0.1529	N	0.14661	0.345	0.22858	N	0.998641	B	0.06786	0.001	B	0.04013	0.001	T	0.34403	-0.9830	10	0.56958	D	0.05	-9.0432	1.863	0.03193	0.132:0.4083:0.1298:0.3299	.	145	P56749	CLD12_HUMAN	S	145	ENSP00000411399:T145S;ENSP00000419053:T145S;ENSP00000287916:T145S;ENSP00000443476:T145S;ENSP00000378102:T145S;ENSP00000378103:T145S	ENSP00000287916:T145S	T	+	2	0	CLDN12	89880360	0.605000	0.26941	0.989000	0.46669	0.809000	0.45718	1.118000	0.31246	0.119000	0.18210	-0.136000	0.14681	ACT		0.488	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		G	90042424	C	G	90042424	3	3	250	1	0	0	0	0	1	0	0	0	3476	565	20	4	436	4	CLDN12	7	90042424	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10		90042424	69096239	25	15074											
PUS7	54517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	105111238	105111238	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr7:105111238G>A	ENST00000356362.2	-	11	1509	c.1295C>T	c.(1294-1296)aCt>aTt	p.T432I	PUS7_ENST00000469408.1_Missense_Mutation_p.T432I	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	432	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.T432I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GAGGGCAGCAGTTGGGTCTTT	0.453																																					Colon(138;2387 3051 17860)											1	Substitution - Missense(1)	kidney(1)											148	137	141					7																	105111238		2203	4300	6503	SO:0001583	missense	54517			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1295C>T	7.37:g.105111238G>A	ENSP00000348722:p.Thr432Ile		Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088810	0.36855	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.41065	1.01;1.01	5.8	4.84	0.62591	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.202809	0.50627	D	0.000105	T	0.25865	0.0630	N	0.08118	0	0.20638	N	0.999875	B;B	0.23540	0.074;0.087	B;B	0.23852	0.049;0.049	T	0.21177	-1.0253	10	0.45353	T	0.12	-18.5228	14.9844	0.71336	0.0:0.0:0.7771:0.2229	.	432;432	B3KY42;Q96PZ0	.;PUS7_HUMAN	I	432	ENSP00000348722:T432I;ENSP00000417402:T432I	ENSP00000348722:T432I	T	-	2	0	PUS7	104898474	1.000000	0.71417	0.991000	0.47740	0.904000	0.53231	3.590000	0.53979	2.739000	0.93911	0.561000	0.74099	ACT		0.453	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		A	105111238	G	A	105111238	3	1	250	1	0	0	0	0	1	0	0	0	12839	1029	36	2	714	2	PUS7	7	105111238	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10	15068814	105111238	54027425	26	15075											
CADPS2	93664	hgsc.bcm.edu;ucsc.edu	37	7	122114547	122114547	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr7:122114547delC	ENST00000449022.2	-	13	1905	c.1886delG	c.(1885-1887)ggtfs	p.G629fs	CADPS2_ENST00000313070.7_Frame_Shift_Del_p.G626fs|CADPS2_ENST00000412584.2_Frame_Shift_Del_p.G626fs|CADPS2_ENST00000334010.7_Frame_Shift_Del_p.G630fs	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	629					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTCATCCATACCATGTTTCTG	0.383																																																0													89	86	87					7																	122114547		1881	4114	5995	SO:0001589	frameshift_variant	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1886delG	7.37:g.122114547delC	ENSP00000398481:p.Gly629fs		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Frame_Shift_Del	DEL	ENST00000449022.2	37	CCDS55158.1																																																																																				0.383	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		-	122114547	C	-	122114547	7	5	250	1	0	1	0	1	0	0	0	0	2573	507	18	0	2120	0	CADPS2	7	122114547	Frame_Shift_Del	DEL	C	TCGA-B2-5641-01A-01D-1534-10	17003309	122114547	37024116	27	15076											
DNAJB6	10049	hgsc.bcm.edu	37	7	157160099	157160100	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr7:157160099_157160100insGA	ENST00000262177.4	+	5	473_474	c.268_269insGA	c.(268-270)ggcfs	p.G90fs	DNAJB6_ENST00000452797.2_Frame_Shift_Ins_p.G41fs|DNAJB6_ENST00000429029.2_Frame_Shift_Ins_p.G90fs|DNAJB6_ENST00000443280.1_Frame_Shift_Ins_p.G90fs	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	90	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATTTGAATTTGGCTTCACATTC	0.386																																					Esophageal Squamous(46;195 967 1350 20350 43814)											0																																										SO:0001589	frameshift_variant	10049			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"Heat shock proteins / DNAJ (HSP40)"	14888	protein-coding gene	gene with protein product		611332	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	Exception_encountered	7.37:g.157160099_157160100insGA	ENSP00000262177:p.Gly90fs		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Frame_Shift_Ins	INS	ENST00000262177.4	37	CCDS5946.1																																																																																				0.386	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2			GA	157160100	-	GA	157160099	7	5	250	1	0	1	1	0	0	0	0	0	4626	1348	47	0	282	0	DNAJB6	7	157160099	Frame_Shift_Ins	INS	-	TCGA-B2-5641-01A-01D-1534-10	35045552	157160099	1978564	28	15077											
PSD3	23362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	18662289	18662289	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr8:18662289G>A	ENST00000327040.8	-	5	1856	c.1754C>T	c.(1753-1755)gCc>gTc	p.A585V	PSD3_ENST00000286485.8_Missense_Mutation_p.A51V|PSD3_ENST00000440756.2_Missense_Mutation_p.A585V|PSD3_ENST00000523619.1_Missense_Mutation_p.A520V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	585	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.A585V(1)|p.A51V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAACCTTTTGGCTGCTTCCAC	0.458																																																2	Substitution - Missense(2)	kidney(2)											201	199	200					8																	18662289		2203	4300	6503	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1754C>T	8.37:g.18662289G>A	ENSP00000324127:p.Ala585Val		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	35	5.580333	0.96565	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000523619;ENST00000519851	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	L	0.48986	1.54	0.80722	D	1	P;P	0.46277	0.87;0.875	P;P	0.57057	0.812;0.577	T	0.52697	-0.8541	10	0.59425	D	0.04	.	18.1531	0.89682	0.0:0.0:1.0:0.0	.	585;51	E9KL50;Q9NYI0-3	.;.	V	585;585;51;520;26	ENSP00000324127:A585V;ENSP00000401704:A585V;ENSP00000286485:A51V;ENSP00000430640:A520V;ENSP00000429069:A26V	ENSP00000286485:A51V	A	-	2	0	PSD3	18706569	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.800000	0.91900	2.885000	0.99019	0.655000	0.94253	GCC		0.458	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		A	18662289	G	A	18662289	3	1	250	1	0	0	0	0	1	0	0	0	12653	1203	42	2	1437	2	PSD3	8	18662289	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10		18662289	127701733	29	15078											
ADAMDEC1	27299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	24242084	24242084	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr8:24242084T>C	ENST00000256412.4	+	1	287	c.67T>C	c.(67-69)Tgg>Cgg	p.W23R	ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_5'UTR	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	23					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W23R(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCCTGTACTTTGGCTCATTGT	0.433																																					Ovarian(147;687 1849 3699 25981 31337)											1	Substitution - Missense(1)	kidney(1)											151	113	126					8																	24242084		2203	4300	6503	SO:0001583	missense	27299			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.67T>C	8.37:g.24242084T>C	ENSP00000256412:p.Trp23Arg		B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	T	5.581	0.292078	0.10567	.	.	ENSG00000134028	ENST00000256412	T	0.02631	4.22	4.63	2.13	0.27403	.	0.927551	0.09259	N	0.826886	T	0.03136	0.0092	L	0.29908	0.895	0.51767	D	0.999939	B	0.23128	0.08	B	0.28916	0.096	T	0.44205	-0.9343	10	0.27785	T	0.31	-0.9605	8.8028	0.34918	0.0:0.0:0.3756:0.6244	.	23	O15204	ADEC1_HUMAN	R	23	ENSP00000256412:W23R	ENSP00000256412:W23R	W	+	1	0	ADAMDEC1	24298029	0.013000	0.17824	0.545000	0.28153	0.150000	0.21749	0.004000	0.13106	0.469000	0.27268	0.533000	0.62120	TGG		0.433	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		C	24242084	T	C	24242084	3	2	250	1	0	0	0	0	1	0	0	0	254	1812	63	3	69	3	ADAMDEC1	8	24242084	Missense_Mutation	SNP	T	TCGA-B2-5641-01A-01D-1534-10	5579795	24242084	122121938	30	15079											
XKR4	114786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	56436104	56436104	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr8:56436104G>T	ENST00000327381.6	+	3	1371	c.1271G>T	c.(1270-1272)tGt>tTt	p.C424F	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	424						integral component of membrane (GO:0016021)		p.C424F(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACAGAATTCTGTATCACCAAA	0.483																																																1	Substitution - Missense(1)	kidney(1)											255	225	235					8																	56436104		2203	4300	6503	SO:0001583	missense	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1271G>T	8.37:g.56436104G>T	ENSP00000328326:p.Cys424Phe		Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934421	0.73442	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.65178	-0.14	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.80793	0.4691	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80207	-0.1478	10	0.48119	T	0.1	-17.9226	19.819	0.96583	0.0:0.0:1.0:0.0	.	424	Q5GH76	XKR4_HUMAN	F	424	ENSP00000328326:C424F	ENSP00000328326:C424F	C	+	2	0	XKR4	56598658	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.869000	0.99810	2.691000	0.91804	0.655000	0.94253	TGT		0.483	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		T	56436104	G	T	56436104	3	4	250	1	0	0	0	0	1	0	0	0	17438	1377	48	4	1281	4	XKR4	8	56436104	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10	32194020	56436104	89927918	31	15080											
PKHD1L1	93035	broad.mit.edu	37	8	110445335	110445335	+	Splice_Site	SNP	G	G	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr8:110445335G>A	ENST00000378402.5	+	28	3334	c.3230G>A	c.(3229-3231)gGg>gAg	p.G1077E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1077	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G1079E(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCATTTTTAGGGTCCTATGAA	0.318										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	kidney(1)											183	174	176					8																	110445335		1805	4062	5867	SO:0001630	splice_region_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3230-1G>A	8.37:g.110445335G>A			Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.356097	0.82243	.	.	ENSG00000205038	ENST00000378402	T	0.81078	-1.45	5.51	5.51	0.81932	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90734	0.7092	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.91585	0.5282	9	.	.	.	.	15.2719	0.73708	0.0:0.0:1.0:0.0	.	1077	Q86WI1	PKHL1_HUMAN	E	1077	ENSP00000367655:G1077E	.	G	+	2	0	PKHD1L1	110514511	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.279000	0.65597	2.746000	0.94184	0.655000	0.94253	GGG		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Missense_Mutation	A	110445335	G	A	110445335	5	1	250	1	0	0	0	0	0	0	1	0	11974	1246	43	2	3340	2	PKHD1L1	8	110445335	Splice_Site	SNP	G	TCGA-B2-5641-01A-01D-1534-10	54009231	110445335	35918687	32	15081											
TEK	7010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	27202840	27202840	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr9:27202840C>G	ENST00000380036.4	+	13	2374	c.1932C>G	c.(1930-1932)aaC>aaG	p.N644K	TEK_ENST00000519097.1_Missense_Mutation_p.N497K|TEK_ENST00000406359.4_Missense_Mutation_p.N601K	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	644	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N644K(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AACCAGAAAACATCAAGATTT	0.343																																																1	Substitution - Missense(1)	kidney(1)											129	130	130					9																	27202840		2203	4300	6503	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1932C>G	9.37:g.27202840C>G	ENSP00000369375:p.Asn644Lys		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854143	0.32791	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.61274	0.12;0.12;0.12;2.8	5.79	0.161	0.14977	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.241077	0.28971	N	0.013543	T	0.46870	0.1415	L	0.27053	0.805	0.43065	D	0.994693	P;B;B;B	0.38711	0.643;0.011;0.0;0.008	P;B;B;B	0.46479	0.518;0.033;0.008;0.015	T	0.38714	-0.9648	10	0.56958	D	0.05	.	6.8933	0.24243	0.1164:0.5721:0.0:0.3115	.	497;677;601;644	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	K	497;644;601;454	ENSP00000430686:N497K;ENSP00000369375:N644K;ENSP00000383977:N601K;ENSP00000428337:N454K	ENSP00000369375:N644K	N	+	3	2	TEK	27192840	0.998000	0.40836	0.999000	0.59377	0.979000	0.70002	0.494000	0.22467	0.101000	0.17610	-0.857000	0.03018	AAC		0.343	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			G	27202840	C	G	27202840	3	3	250	1	0	0	0	0	1	0	0	0	15756	477	17	4	1982	4	TEK	9	27202840	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10		27202840	114010591	33	15082											
YME1L1	10730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	27420850	27420850	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr10:27420850C>G	ENST00000326799.3	-	9	1115	c.967G>C	c.(967-969)Ggg>Cgg	p.G323R	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Missense_Mutation_p.G233R|YME1L1_ENST00000376016.3_Missense_Mutation_p.G266R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	323					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.G323R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAATCAAGCCCTGTTGTTGTC	0.373																																																1	Substitution - Missense(1)	kidney(1)											127	121	123					10																	27420850		2203	4300	6503	SO:0001583	missense	10730			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.967G>C	10.37:g.27420850C>G	ENSP00000318480:p.Gly323Arg		B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336107	0.81801	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122;ENST00000427324	D;D;D	0.93547	-3.21;-3.24;-3.16	5.49	5.49	0.81192	Peptidase M41, FtsH (2);	0.089887	0.85682	D	0.000000	D	0.95758	0.8620	M	0.74881	2.28	0.80722	D	1	D;B;D	0.63880	0.992;0.234;0.993	D;B;P	0.62955	0.909;0.135;0.883	D	0.95660	0.8714	10	0.72032	D	0.01	-14.1135	13.4861	0.61366	0.0:0.9189:0.0:0.0811	.	233;266;323	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	R	266;323;323;233;69;233	ENSP00000365184:G266R;ENSP00000318480:G323R;ENSP00000365139:G233R	ENSP00000318480:G323R	G	-	1	0	YME1L1	27460856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.723000	0.68492	2.744000	0.94065	0.650000	0.86243	GGG		0.373	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		G	27420850	C	G	27420850	3	3	250	1	0	0	0	0	1	0	0	0	17492	681	24	4	1402	4	YME1L1	10	27420850	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10		27420850	108113897	34	15083											
ANKRD30A	91074	broad.mit.edu;hgsc.bcm.edu	37	10	37422855	37422855	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr10:37422855T>G	ENST00000602533.1	+	5	560	c.461T>G	c.(460-462)aTg>aGg	p.M154R	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.M154R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M154R|RNU6-811P_ENST00000384069.1_RNA			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	210					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M154R(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACAGCCCTCATGCTTGCTGTA	0.373																																																1	Substitution - Missense(1)	kidney(1)											170	157	161					10																	37422855		1910	4127	6037	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.461T>G	10.37:g.37422855T>G	ENSP00000473551:p.Met154Arg		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	11.65	1.703107	0.30232	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.66995	-0.24;-0.18	1.43	1.43	0.22495	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.69672	0.3137	M	0.82193	2.58	0.26028	N	0.981775	P	0.43826	0.818	P	0.47102	0.537	T	0.60239	-0.7302	9	0.44086	T	0.13	.	5.019	0.14352	0.0:0.0:0.0:1.0	.	210	Q9BXX3	AN30A_HUMAN	R	154	ENSP00000354432:M154R;ENSP00000363792:M154R	ENSP00000354432:M154R	M	+	2	0	ANKRD30A	37462861	1.000000	0.71417	0.336000	0.25522	0.149000	0.21700	2.947000	0.49058	0.677000	0.31305	0.240000	0.17902	ATG		0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		G	37422855	T	G	37422855	3	3	250	1	0	0	0	0	1	0	0	0	658	1464	51	5	479	5	ANKRD30A	10	37422855	Missense_Mutation	SNP	T	TCGA-B2-5641-01A-01D-1534-10	10002005	37422855	98111892	35	15084											
BMS1	9790	broad.mit.edu	37	10	43288427	43288427	+	Silent	SNP	T	T	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr10:43288427T>C	ENST00000374518.5	+	8	987	c.924T>C	c.(922-924)agT>agC	p.S308S		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	308					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S308S(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGCCGTGAGTGACATCAGTT	0.473																																																1	Substitution - coding silent(1)	kidney(1)											128	130	129					10																	43288427		2203	4300	6503	SO:0001819	synonymous_variant	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.924T>C	10.37:g.43288427T>C			Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	CCDS7199.1																																																																																				0.473	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		C	43288427	T	C	43288427	2	2	250	1	0	0	0	0	0	0	0	1	1472	1693	59	3		3	BMS1	10	43288427	Silent	SNP	T	TCGA-B2-5641-01A-01D-1534-10	5865572	43288427	92246320	36	15085											
LDB3	11155	broad.mit.edu	37	10	88476170	88476170	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr10:88476170T>C	ENST00000361373.4	+	9	1339	c.1318T>C	c.(1318-1320)Tcc>Ccc	p.S440P	LDB3_ENST00000263066.6_Missense_Mutation_p.S330P|LDB3_ENST00000458213.2_Missense_Mutation_p.S330P|LDB3_ENST00000429277.2_Missense_Mutation_p.S445P|LDB3_ENST00000352360.5_Missense_Mutation_p.S183P	NM_007078.2	NP_009009.1			LIM domain binding 3									p.S445P(1)|p.S440P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ctacaccccctcccctgcccc	0.637																																																2	Substitution - Missense(2)	kidney(2)											16	16	16					10																	88476170		2192	4270	6462	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1318T>C	10.37:g.88476170T>C	ENSP00000355296:p.Ser440Pro			Missense_Mutation	SNP	ENST00000361373.4	37	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582485	0.28180	.	.	ENSG00000122367	ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.55234	0.79;0.63;0.53;0.63;0.58	4.47	3.23	0.37069	.	0.700777	0.11047	N	0.605444	T	0.60983	0.2311	L	0.43152	1.355	0.25136	N	0.990534	B;D;P;B;B	0.63046	0.396;0.992;0.531;0.396;0.378	B;D;B;B;B	0.73708	0.092;0.981;0.189;0.092;0.102	T	0.46884	-0.9159	10	0.29301	T	0.29	.	9.0613	0.36436	0.0:0.0:0.1851:0.8149	.	445;377;183;440;330	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	P	445;330;183;330;440	ENSP00000401437:S445P;ENSP00000409148:S330P;ENSP00000263067:S183P;ENSP00000263066:S330P;ENSP00000355296:S440P	ENSP00000263066:S330P	S	+	1	0	LDB3	88466150	0.512000	0.26186	0.883000	0.34634	0.132000	0.20833	3.008000	0.49544	1.763000	0.52060	0.528000	0.53228	TCC		0.637	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			C	88476170	T	C	88476170	3	2	250	1	0	0	0	0	1	0	0	0	8699	1551	54	3	1688	3	LDB3	10	88476170	Missense_Mutation	SNP	T	TCGA-B2-5641-01A-01D-1534-10	45187743	88476170	47058577	37	15086											
SLK	9748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105750469	105750469	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr10:105750469A>G	ENST00000369755.3	+	2	732	c.187A>G	c.(187-189)Aaa>Gaa	p.K63E	SLK_ENST00000335753.4_Missense_Mutation_p.K63E	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.K63E(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGCTGCTGCAAAAGTGATTGA	0.328																																					NSCLC(111;540 1651 1927 4474 17706)											1	Substitution - Missense(1)	kidney(1)											111	105	107					10																	105750469		2203	4300	6503	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.187A>G	10.37:g.105750469A>G	ENSP00000358770:p.Lys63Glu		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	33	5.239971	0.95240	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	D;D	0.85258	-1.96;-1.96	5.97	5.97	0.96955	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95557	0.8556	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97220	0.9877	10	0.87932	D	0	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	63;63	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	E	63	ENSP00000336824:K63E;ENSP00000358770:K63E	ENSP00000336824:K63E	K	+	1	0	SLK	105740459	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.213000	0.95133	2.288000	0.76882	0.533000	0.62120	AAA		0.328	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		G	105750469	A	G	105750469	3	3	250	1	0	0	0	0	1	0	0	0	14754	15	1	3	193	3	SLK	10	105750469	Missense_Mutation	SNP	A	TCGA-B2-5641-01A-01D-1534-10	17274299	105750469	29784278	38	15087											
OR6A2	8590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6816240	6816240	+	Missense_Mutation	SNP	G	G	A	rs2741745		TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr11:6816240G>A	ENST00000332601.3	-	1	888	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	234					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P234S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAGCCGAAGGAATGTGCATC	0.493																																																1	Substitution - Missense(1)	kidney(1)											98	100	99					11																	6816240		2201	4296	6497	SO:0001583	missense	8590			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.700C>T	11.37:g.6816240G>A	ENSP00000330384:p.Pro234Ser		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187028	0.38609	.	.	ENSG00000184933	ENST00000332601	T	0.36878	1.23	5.07	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.34106	0.0886	L	0.51422	1.61	0.20926	N	0.999829	B	0.17038	0.02	B	0.24701	0.055	T	0.31971	-0.9924	10	0.54805	T	0.06	.	11.4282	0.50022	0.0876:0.0:0.9124:0.0	rs2741745	234	O95222	OR6A2_HUMAN	S	234	ENSP00000330384:P234S	ENSP00000330384:P234S	P	-	1	0	OR6A2	6772816	0.146000	0.22672	0.578000	0.28575	0.877000	0.50540	2.843000	0.48238	1.517000	0.48917	0.655000	0.94253	CCT		0.493	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		A	6816240	G	A	6816240	3	1	250	1	0	0	0	0	1	0	0	0	11188	1174	41	2	287	2	OR6A2	11	6816240	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10		6816240	128190276	39	15088											
BCL9L	283149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118774132	118774132	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr11:118774132C>A	ENST00000334801.3	-	4	1526	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	188					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.A188S(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGCTGTGGGGCCGCCATGGCT	0.647																																																2	Substitution - Missense(2)	kidney(2)											14	20	18					11																	118774132		2167	4286	6453	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.562G>T	11.37:g.118774132C>A	ENSP00000335320:p.Ala188Ser		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742451	0.30865	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.64260	-0.09	5.09	2.09	0.27110	.	0.286388	0.24859	N	0.035021	T	0.43010	0.1228	N	0.22421	0.69	0.22771	N	0.998758	B;B	0.13594	0.008;0.005	B;B	0.18871	0.023;0.01	T	0.22347	-1.0219	10	0.23891	T	0.37	-9.6222	8.875	0.35340	0.0:0.6955:0.0:0.3045	.	183;188	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	188;151;188;188	ENSP00000335320:A188S	ENSP00000335320:A188S	A	-	1	0	BCL9L	118279342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.671000	0.37513	0.708000	0.31955	0.650000	0.86243	GCC		0.647	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		A	118774132	C	A	118774132	3	1	250	1	0	0	0	0	1	0	0	0	1382	739	26	4	3957	4	BCL9L	11	118774132	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10	111957892	118774132	16232384	40	15089											
C12orf35	55196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32134405	32134405	+	Silent	SNP	T	T	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr12:32134405T>C	ENST00000312561.4	+	4	930	c.516T>C	c.(514-516)aaT>aaC	p.N172N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	172								p.N172N(1)									TCCCTTCTAATTCTACACGAC	0.413																																																1	Substitution - coding silent(1)	kidney(1)											98	92	94					12																	32134405		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.516T>C	12.37:g.32134405T>C			B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																				0.413	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		C	32134405	T	C	32134405	2	2	250	1	0	0	0	0	0	0	0	1	1684	1490	52	3		3	C12orf35	12	32134405	Silent	SNP	T	TCGA-B2-5641-01A-01D-1534-10		32134405	101717490	41	15090											
OR9K2	441639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55523606	55523606	+	Silent	SNP	A	A	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr12:55523606A>G	ENST00000305377.5	+	1	142	c.54A>G	c.(52-54)caA>caG	p.Q18Q		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q18Q(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GTGCCTCTCAACAGGTTTCTA	0.413																																																1	Substitution - coding silent(1)	kidney(1)											144	144	144					12																	55523606		2203	4300	6503	SO:0001819	synonymous_variant	441639			BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.54A>G	12.37:g.55523606A>G			B9EH19|Q6IFD6	Silent	SNP	ENST00000305377.5	37	CCDS31814.1																																																																																				0.413	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			G	55523606	A	G	55523606	2	3	250	1	0	0	0	0	0	0	0	1	11256	40	2	3		3	OR9K2	12	55523606	Silent	SNP	A	TCGA-B2-5641-01A-01D-1534-10	23389201	55523606	78328289	42	15091											
DNAJC14	85406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56216895	56216895	+	Silent	SNP	T	T	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr12:56216895T>C	ENST00000357606.3	-	5	1882	c.1593A>G	c.(1591-1593)gcA>gcG	p.A531A	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.N161D|RP11-762I7.5_ENST00000552719.1_5'Flank|DNAJC14_ENST00000317287.5_Silent_p.A531A|DNAJC14_ENST00000317269.3_Silent_p.A531A			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	531					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A531A(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TAGTATTCATTGCCTCCTTGA	0.438																																																1	Substitution - coding silent(1)	kidney(1)											175	146	155					12																	56216895		2203	4300	6503	SO:0001819	synonymous_variant	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1593A>G	12.37:g.56216895T>C			A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Silent	SNP	ENST00000357606.3	37	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	T	9.526	1.109501	0.20714	.	.	ENSG00000257390	ENST00000546837	.	.	.	5.85	1.77	0.24775	.	.	.	.	.	T	0.45994	0.1370	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28713	-1.0035	4	.	.	.	-6.7037	3.5614	0.07884	0.1201:0.0785:0.1675:0.634	.	.	.	.	D	161	.	.	N	-	1	0	RP11-762I7.5	54503162	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.843000	0.48238	0.513000	0.28278	0.533000	0.62120	AAT		0.438	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		C	56216895	T	C	56216895	2	2	250	1	0	0	0	0	0	0	0	1	4635	1799	63	3		3	DNAJC14	12	56216895	Silent	SNP	T	TCGA-B2-5641-01A-01D-1534-10	693289	56216895	77635000	43	15092											
GNPTAB	79158	hgsc.bcm.edu;ucsc.edu	37	12	102158580	102158580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr12:102158580delT	ENST00000299314.7	-	13	2377	c.2115delA	c.(2113-2115)aaafs	p.K705fs	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	705	DMAP-interaction.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGGGCGTCTTTTGGAAGGA	0.423																																																0													69	72	71					12																	102158580		2203	4300	6503	SO:0001589	frameshift_variant	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2115delA	12.37:g.102158580delT	ENSP00000299314:p.Lys705fs		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Frame_Shift_Del	DEL	ENST00000299314.7	37	CCDS9088.1																																																																																				0.423	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			-	102158580	T	-	102158580	7	5	250	1	0	1	0	1	0	0	0	0	6547	1606	56	0	1691	0	GNPTAB	12	102158580	Frame_Shift_Del	DEL	T	TCGA-B2-5641-01A-01D-1534-10	45941685	102158580	31693315	44	15093											
BRCA2	675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32900684	32900684	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr13:32900684G>C	ENST00000380152.3	+	7	798	c.565G>C	c.(565-567)Gat>Cat	p.D189H	BRCA2_ENST00000544455.1_Missense_Mutation_p.D189H			P51587	BRCA2_HUMAN	breast cancer 2, early onset	189					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.D189H(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCTGAGGTGGATCCTGATAT	0.383			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	2	Substitution - Missense(2)	kidney(2)											120	117	118					13																	32900684		2203	4300	6503	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.565G>C	13.37:g.32900684G>C	ENSP00000369497:p.Asp189His		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366047	0.82463	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.01369	4.97;4.97	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.08626	0.0214	M	0.65498	2.005	0.45883	D	0.998739	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.936	T	0.01195	-1.1422	10	0.87932	D	0	.	19.2691	0.94002	0.0:0.0:1.0:0.0	.	189;189	P51587;A1YBP1	BRCA2_HUMAN;.	H	189;189;187	ENSP00000369497:D189H;ENSP00000439902:D189H	ENSP00000369497:D189H	D	+	1	0	BRCA2	31798684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.440000	0.59975	2.551000	0.86045	0.462000	0.41574	GAT		0.383	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		C	32900684	G	C	32900684	3	2	250	1	0	0	0	0	1	0	0	0	1501	1174	41	4	587	4	BRCA2	13	32900684	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10		32900684	82269194	45	15094											
KIAA0564	23078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42461433	42461433	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr13:42461433A>G	ENST00000379310.3	-	6	784	c.716T>C	c.(715-717)aTt>aCt	p.I239T	VWA8_ENST00000281496.6_Missense_Mutation_p.I239T	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	239						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I239T(1)									GCCCAAGGCAATCACTCGGAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											71	75	74					13																	42461433		2203	4300	6503	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.716T>C	13.37:g.42461433A>G	ENSP00000368612:p.Ile239Thr		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227775	0.79576	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.52057	0.68;0.68	5.11	5.11	0.69529	ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000001	T	0.75679	0.3882	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82719	-0.0318	10	0.87932	D	0	.	15.2341	0.73416	1.0:0.0:0.0:0.0	.	239	A3KMH1	K0564_HUMAN	T	143;239;239;239	ENSP00000368612:I239T;ENSP00000281496:I239T	ENSP00000251030:I143T	I	-	2	0	KIAA0564	41359433	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	9.218000	0.95166	2.054000	0.61138	0.528000	0.53228	ATT		0.408	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		G	42461433	A	G	42461433	3	3	250	1	0	0	0	0	1	0	0	0	8187	101	4	3	5165	3	KIAA0564	13	42461433	Missense_Mutation	SNP	A	TCGA-B2-5641-01A-01D-1534-10	9560749	42461433	72708445	46	15095											
KIAA0586	9786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58954685	58954685	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr14:58954685T>G	ENST00000556134.1	+	24	3614	c.3340T>G	c.(3340-3342)Ttt>Gtt	p.F1114V	KIAA0586_ENST00000354386.6_Missense_Mutation_p.F1182V|KIAA0586_ENST00000423743.3_Missense_Mutation_p.F1085V|KIAA0586_ENST00000261244.5_Missense_Mutation_p.F1053V|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1114					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.F1182V(1)|p.F1053V(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCGGCAGTTTTTACCCCAAC	0.443																																																2	Substitution - Missense(2)	kidney(2)											53	53	53					14																	58954685		1837	4083	5920	SO:0001583	missense	9786			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3340T>G	14.37:g.58954685T>G	ENSP00000452351:p.Phe1114Val		B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	T	0.534	-0.856569	0.02630	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.18	3.32	0.38043	.	0.454311	0.23206	N	0.050723	T	0.29355	0.0731	L	0.36672	1.1	0.24705	N	0.993234	B;B;B;B;B;B	0.29988	0.0;0.0;0.008;0.264;0.0;0.0	B;B;B;B;B;B	0.28011	0.001;0.001;0.002;0.085;0.001;0.001	T	0.14448	-1.0472	10	0.18710	T	0.47	.	9.7676	0.40570	0.0:0.767:0.153:0.08	.	989;989;1182;1053;1114;1085	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	V	1182;1114;1085;1053;989	ENSP00000346359:F1182V;ENSP00000452351:F1114V;ENSP00000399427:F1085V;ENSP00000261244:F1053V	ENSP00000261244:F1053V	F	+	1	0	KIAA0586	58024438	0.992000	0.36948	1.000000	0.80357	0.121000	0.20230	0.891000	0.28309	0.658000	0.30925	-0.484000	0.04775	TTT		0.443	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		G	58954685	T	G	58954685	3	3	250	1	0	0	0	0	1	0	0	0	8188	1841	64	5	3243	5	KIAA0586	14	58954685	Missense_Mutation	SNP	T	TCGA-B2-5641-01A-01D-1534-10		58954685	48394855	47	15096											
PROX2	283571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75329252	75329252	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr14:75329252A>C	ENST00000445876.1	-	1	1285	c.1286T>G	c.(1285-1287)cTg>cGg	p.L429R	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000556489.2_Missense_Mutation_p.L429R			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	429					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L429R(1)		kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGAGAAAGGCAGTGCCTCCAT	0.507																																																1	Substitution - Missense(1)	kidney(1)											84	84	84					14																	75329252		2008	4184	6192	SO:0001583	missense	283571				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"Homeoboxes / PROS class"	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1286T>G	14.37:g.75329252A>C	ENSP00000405932:p.Leu429Arg		C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396181	0.42512	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	T;T	0.46063	0.88;0.9	5.35	0.33	0.15929	.	0.702859	0.12074	N	0.501935	T	0.36663	0.0975	L	0.54323	1.7	0.09310	N	1	D	0.55172	0.97	P	0.47376	0.545	T	0.20773	-1.0265	10	0.22706	T	0.39	-0.0047	4.2695	0.10780	0.5406:0.0:0.3127:0.1468	.	429	G3V3G0	.	R	429	ENSP00000451223:L429R;ENSP00000405932:L429R	ENSP00000374315:L429R	L	-	2	0	PROX2	74399005	0.000000	0.05858	0.001000	0.08648	0.248000	0.25809	0.037000	0.13840	0.028000	0.15324	0.459000	0.35465	CTG		0.507	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				C	75329252	A	C	75329252	3	2	250	1	0	0	0	0	1	0	0	0	12566	188	7	5	508	5	PROX2	14	75329252	Missense_Mutation	SNP	A	TCGA-B2-5641-01A-01D-1534-10	16374567	75329252	32020288	48	15097											
MYO5A	4644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52645836	52645836	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr15:52645836A>C	ENST00000399231.3	-	27	3830	c.3587T>G	c.(3586-3588)aTt>aGt	p.I1196S	MYO5A_ENST00000399233.2_Missense_Mutation_p.I1196S|MYO5A_ENST00000356338.6_Missense_Mutation_p.I1196S|MYO5A_ENST00000358212.6_Missense_Mutation_p.I1196S|MYO5A_ENST00000553916.1_Missense_Mutation_p.I1196S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1196					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.I1196S(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGCACCTCTAATTTGTGGTCT	0.358																																																1	Substitution - Missense(1)	kidney(1)											105	101	103					15																	52645836		1806	4075	5881	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3587T>G	15.37:g.52645836A>C	ENSP00000382177:p.Ile1196Ser		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.338924	0.41398	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;D;T;D	0.86164	3.69;3.69;-2.08;3.69;-2.07	5.92	5.92	0.95590	.	0.212557	0.49916	D	0.000138	T	0.71702	0.3371	N	0.08118	0	0.41204	D	0.986392	B;B	0.11235	0.001;0.004	B;B	0.10450	0.002;0.005	T	0.66952	-0.5793	10	0.08599	T	0.76	.	10.6656	0.45728	0.929:0.0:0.071:0.0	.	1196;1196	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	S	1196;730;1196;1196;1196;826;1196	ENSP00000382177:I1196S;ENSP00000382179:I1196S;ENSP00000348693:I1196S;ENSP00000350945:I1196S;ENSP00000451109:I1196S	ENSP00000348693:I1196S	I	-	2	0	MYO5A	50433128	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	5.860000	0.69546	2.266000	0.75297	0.533000	0.62120	ATT		0.358	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		C	52645836	A	C	52645836	3	2	250	1	0	0	0	0	1	0	0	0	10080	101	4	5	2040	5	MYO5A	15	52645836	Missense_Mutation	SNP	A	TCGA-B2-5641-01A-01D-1534-10		52645836	49885556	49	15098											
MNS1	55329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56735643	56735643	+	Nonsense_Mutation	SNP	A	A	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr15:56735643A>C	ENST00000260453.3	-	7	1160	c.996T>G	c.(994-996)taT>taG	p.Y332*	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	332	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.Y332*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		GCTTGCTCTTATATATTTCAG	0.313																																																1	Substitution - Nonsense(1)	kidney(1)											120	115	117					15																	56735643		2192	4290	6482	SO:0001587	stop_gained	55329			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.996T>G	15.37:g.56735643A>C	ENSP00000260453:p.Tyr332*		Q8IYT6|Q9NUP4	Nonsense_Mutation	SNP	ENST00000260453.3	37	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367673	0.61513	.	.	ENSG00000138587	ENST00000260453	.	.	.	5.76	-7.7	0.01259	.	1.546290	0.03345	N	0.195348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	12.8479	7.2336	0.26057	0.179:0.1941:0.5281:0.0988	.	.	.	.	X	332	.	ENSP00000260453:Y332X	Y	-	3	2	MNS1	54522935	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.395000	0.02516	-1.671000	0.01466	-0.276000	0.10085	TAT		0.313	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		C	56735643	A	C	56735643	4	2	250	1	0	0	0	0	0	1	0	0	9679	456	16	5	507	5	MNS1	15	56735643	Nonsense_Mutation	SNP	A	TCGA-B2-5641-01A-01D-1534-10	4089807	56735643	45795749	50	15099											
FUS	2521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31193930	31193931	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr16:31193930_31193931GG>AC	ENST00000254108.7	+	3	240_241	c.135_136GG>AC	c.(133-138)acGGac>acACac	p.D46H	RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000568685.1_Missense_Mutation_p.D46H|FUS_ENST00000380244.3_Missense_Mutation_p.D46H	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	46	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D46H(1)|p.T45T(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GCCAGTCCACGGACACTTCAGG	0.545			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																		Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	2521			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	Exception_encountered	16.37:g.31193930_31193931delinsAC	ENSP00000254108:p.Asp46His		Q9H4A8	Silent|Missense_Mutation	SNP	ENST00000254108.7	37	CCDS10707.1																																																																																				0.545	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		AC	31193931	GG	AC	31193930	3	1	250	1	0	0	0	0	1	0	0	0	6102	1103	39	1	145	1	FUS	16	31193930	Missense_Mutation	DNP	GG	TCGA-B2-5641-01A-01D-1534-10		31193930	59160823	51	15100											
KATNB1	10300	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57785950	57785950	+	Silent	SNP	C	C	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr16:57785950C>T	ENST00000379661.3	+	8	1007	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1									p.A205A(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				ACCTCCTGGCCTCCGGCAGCT	0.602																																																1	Substitution - coding silent(1)	kidney(1)											67	44	51					16																	57785950		2198	4300	6498	SO:0001819	synonymous_variant	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"WD repeat domain containing"	6217	protein-coding gene	gene with protein product		602703	"katanin p80 (WD40-containing) subunit B 1"			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.615C>T	16.37:g.57785950C>T				Silent	SNP	ENST00000379661.3	37	CCDS10788.1																																																																																				0.602	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			T	57785950	C	T	57785950	2	4	250	1	0	0	0	0	0	0	0	1	7989	668	24	2		2	KATNB1	16	57785950	Silent	SNP	C	TCGA-B2-5641-01A-01D-1534-10	26592020	57785950	32568803	52	15101											
SPNS3	201305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4389784	4389784	+	Silent	SNP	C	C	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr17:4389784C>T	ENST00000355530.2	+	11	1636	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	SPNS3_ENST00000333476.2_Silent_p.C325C|RP13-580F15.2_ENST00000577064.1_RNA|RP13-580F15.2_ENST00000577176.1_RNA|RP13-580F15.2_ENST00000576086.1_RNA	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	452					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.C452C(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GCTTCCTGTGCTGCGCCTTTG	0.652																																																1	Substitution - coding silent(1)	kidney(1)											34	37	36					17																	4389784		2203	4300	6503	SO:0001819	synonymous_variant	201305				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1356C>T	17.37:g.4389784C>T			Q8IZ31	Silent	SNP	ENST00000355530.2	37	CCDS11045.1																																																																																				0.652	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		T	4389784	C	T	4389784	2	4	250	1	0	0	0	0	0	0	0	1	15081	805	28	2		2	SPNS3	17	4389784	Silent	SNP	C	TCGA-B2-5641-01A-01D-1534-10		4389784	76805426	53	15102											
TOM1L2	146691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	17810845	17810845	+	Splice_Site	SNP	T	T	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr17:17810845T>A	ENST00000379504.3	-	2	136	c.53A>T	c.(52-54)gAa>gTa	p.E18V	TOM1L2_ENST00000535933.1_Splice_Site_p.E18V|TOM1L2_ENST00000581396.1_Splice_Site_p.E18V|TOM1L2_ENST00000540946.1_Splice_Site_p.E18V|TOM1L2_ENST00000542206.1_Splice_Site_p.E18V|TOM1L2_ENST00000318094.10_Splice_Site_p.E18V|TOM1L2_ENST00000395739.4_Splice_Site_p.E18V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	18					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)	p.E18V(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TGTTGCCTTTTCTGTGAAATC	0.483																																					Melanoma(192;2505 2909 14455 25269)											2	Substitution - Missense(2)	kidney(2)											98	81	86					17																	17810845		2203	4300	6503	SO:0001630	splice_region_variant	146691			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.53-1A>T	17.37:g.17810845T>A			B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534684	0.85812	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206;ENST00000537091	T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7	4.77	4.77	0.60923	VHS subgroup (1);ENTH/VHS (2);VHS (1);	0.095856	0.64402	D	0.000001	T	0.59500	0.2198	M	0.92122	3.275	0.34608	D	0.717288	D;D;D;P;D;D;D	0.89917	0.999;1.0;0.968;0.604;1.0;1.0;1.0	D;D;D;P;D;D;D	0.91635	0.996;0.997;0.978;0.676;0.998;0.999;0.999	T	0.77938	-0.2400	10	0.87932	D	0	.	13.4003	0.60879	0.0:0.0:0.0:1.0	.	18;18;18;18;18;18;18	B7Z8F0;B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;.;TM1L2_HUMAN;.	V	18	ENSP00000368818:E18V;ENSP00000312860:E18V;ENSP00000379088:E18V;ENSP00000438621:E18V;ENSP00000437655:E18V;ENSP00000445188:E18V	ENSP00000312860:E18V	E	-	2	0	TOM1L2	17751570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.116000	0.77119	2.011000	0.59026	0.482000	0.46254	GAA		0.483	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1		Missense_Mutation	A	17810845	T	A	17810845	5	1	250	1	0	0	0	0	0	0	1	0	16358	1797	62	5	1526	5	TOM1L2	17	17810845	Splice_Site	SNP	T	TCGA-B2-5641-01A-01D-1534-10	13421061	17810845	63384365	54	15103											
HOXB4	3214	broad.mit.edu;ucsc.edu	37	17	46654168	46654168	+	Silent	SNP	G	G	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr17:46654168G>C	ENST00000332503.5	-	2	2463	c.672C>G	c.(670-672)ccC>ccG	p.P224P	HOXB3_ENST00000490677.1_5'Flank|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000311626.4_5'Flank|HOXB3_ENST00000498678.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	224					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P224P(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TCTTGGTGTTGGGCAACTTGT	0.677																																																1	Substitution - coding silent(1)	kidney(1)											63	66	65					17																	46654168		2203	4300	6503	SO:0001819	synonymous_variant	3214				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.672C>G	17.37:g.46654168G>C			Q9NTA0	Silent	SNP	ENST00000332503.5	37	CCDS11529.1																																																																																				0.677	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			C	46654168	G	C	46654168	2	2	250	1	0	0	0	0	0	0	0	1	7305	1335	47	4		4	HOXB4	17	46654168	Silent	SNP	G	TCGA-B2-5641-01A-01D-1534-10	28843323	46654168	34541042	55	15104											
MED13	9969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60140520	60140520	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr17:60140520C>T	ENST00000397786.2	-	2	285	c.209G>A	c.(208-210)cGg>cAg	p.R70Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	70					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R70Q(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGATCTCGCCGCCAAACACC	0.468																																																1	Substitution - Missense(1)	kidney(1)											142	144	143					17																	60140520		1862	4095	5957	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.209G>A	17.37:g.60140520C>T	ENSP00000380888:p.Arg70Gln		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	37	6.144740	0.97324	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.81821	-1.54	5.67	5.67	0.87782	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90548	0.4507	10	0.66056	D	0.02	0.7596	19.7607	0.96316	0.0:1.0:0.0:0.0	.	70	Q9UHV7	MED13_HUMAN	Q	70	ENSP00000380888:R70Q	ENSP00000262436:R70Q	R	-	2	0	MED13	57495302	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.786000	0.85741	2.658000	0.90341	0.655000	0.94253	CGG		0.468	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		T	60140520	C	T	60140520	3	4	250	1	0	0	0	0	1	0	0	0	9432	652	23	1	6431	1	MED13	17	60140520	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10	13486352	60140520	21054690	56	15105											
RTTN	25914	hgsc.bcm.edu;ucsc.edu	37	18	67871409	67871411	+	In_Frame_Del	DEL	CAG	CAG	-	rs554154376		TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr18:67871409_67871411delCAG	ENST00000255674.6	-	3	594_596	c.308_310delCTG	c.(307-312)gctgaa>gaa	p.A103del	RTTN_ENST00000437017.1_In_Frame_Del_p.A103del|RTTN_ENST00000454359.1_In_Frame_Del_p.A103del	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	103					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CCATCAATTTCAGCCTGCAGATT	0.429																																																0																																										SO:0001651	inframe_deletion	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.308_310delCTG	18.37:g.67871409_67871411delCAG	ENSP00000255674:p.Ala103del		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	In_Frame_Del	DEL	ENST00000255674.6	37	CCDS42443.1																																																																																				0.429	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		-	67871411	CAG	-	67871409	7	5	250	1	0	1	0	1	0	0	0	0	13743	835	29	0	6558	0	RTTN	18	67871409	In_Frame_Del	DEL	CAG	TCGA-B2-5641-01A-01D-1534-10		67871409	10205839	57	15106	120	2									
RTTN	25914	hgsc.bcm.edu	37	18	67871413	67871413	+	Silent	SNP	C	C	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr18:67871413C>T	ENST00000255674.6	-	3	592	c.306G>A	c.(304-306)caG>caA	p.Q102Q	RTTN_ENST00000437017.1_Silent_p.Q102Q|RTTN_ENST00000454359.1_Silent_p.Q102Q	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	102					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAATTTCAGCCTGCAGATTTG	0.428																																																0													110	108	109					18																	67871413		1897	4127	6024	SO:0001819	synonymous_variant	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.306G>A	18.37:g.67871413C>T			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	CCDS42443.1																																																																																				0.428	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		T	67871413	C	T	67871413	2	4	250	1	0	0	0	0	0	0	0	1	13743	680	24	2		2	RTTN	18	67871413	Silent	SNP	C	TCGA-B2-5641-01A-01D-1534-10	4	67871413	10205835	58	15107	120	2									
CYB5A	1528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	71930704	71930704	+	Silent	SNP	A	A	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr18:71930704A>G	ENST00000340533.4	-	2	278	c.138T>C	c.(136-138)ggT>ggC	p.G46G	CYB5A_ENST00000494131.2_Silent_p.G46G|CYB5A_ENST00000299438.9_5'UTR|CYB5A_ENST00000579064.1_5'Flank|CYB5A_ENST00000397914.4_Silent_p.G46G	NM_148923.3	NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	46	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				hydrogen ion transmembrane transport (GO:1902600)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	aldo-keto reductase (NADP) activity (GO:0004033)|cytochrome-c oxidase activity (GO:0004129)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)	p.G46G(1)		kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)				CTTCTTCCCCACCAGGATGCT	0.413																																					NSCLC(176;1530 2076 2606 27426 50572)|Ovarian(151;328 1870 2837 37860 52175)											1	Substitution - coding silent(1)	kidney(1)											100	94	96					18																	71930704		2203	4300	6503	SO:0001819	synonymous_variant	1528			M22865	CCDS12004.1, CCDS12005.1, CCDS54188.1	18q23	2006-01-30	2006-01-30	2006-01-30	ENSG00000166347	ENSG00000166347		"Cytochrome b genes"	2570	protein-coding gene	gene with protein product		613218	"cytochrome b-5", "cytochrome b5 (microsomal)"	CYB5		1840560	Standard	NM_148923		Approved		uc002lli.3	P00167	OTTHUMG00000132843	ENST00000340533.4:c.138T>C	18.37:g.71930704A>G			A8MV91|F8WEU4|Q6IB14	Silent	SNP	ENST00000340533.4	37	CCDS12004.1																																																																																				0.413	CYB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256316.1	NM_001914, NM_148923		G	71930704	A	G	71930704	2	3	250	1	0	0	0	0	0	0	0	1	4124	146	6	3		3	CYB5A	18	71930704	Silent	SNP	A	TCGA-B2-5641-01A-01D-1534-10	4059291	71930704	6146544	59	15108											
PRR22	163154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	5784427	5784427	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr19:5784427G>T	ENST00000419421.2	-	2	258	c.154C>A	c.(154-156)Cca>Aca	p.P52T	CTB-54O9.9_ENST00000586012.1_Missense_Mutation_p.P57H	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	52								p.P52T(1)		endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TCTGGGTCTGGGGGATGATAC	0.637																																																1	Substitution - Missense(1)	kidney(1)											106	113	111					19																	5784427		692	1591	2283	SO:0001583	missense	163154			BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.154C>A	19.37:g.5784427G>T	ENSP00000407653:p.Pro52Thr		E9PB31	Missense_Mutation	SNP	ENST00000419421.2	37	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961367	0.53400	.	.	ENSG00000212123	ENST00000419421	T	0.18810	2.19	4.66	1.29	0.21616	.	.	.	.	.	T	0.18923	0.0454	N	0.19112	0.55	0.21220	N	0.999755	D	0.53462	0.96	P	0.52217	0.693	T	0.11842	-1.0571	9	0.59425	D	0.04	.	6.3927	0.21595	0.1742:0.1504:0.6754:0.0	.	52	E9PB31	.	T	52	ENSP00000407653:P52T	ENSP00000407653:P52T	P	-	1	0	PRR22	5735427	0.066000	0.20996	0.133000	0.22050	0.085000	0.17905	-0.012000	0.12699	0.193000	0.20303	-0.305000	0.09177	CCA		0.637	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		T	5784427	G	T	5784427	3	4	250	1	0	0	0	0	1	0	0	0	12598	1232	43	4	1122	4	PRR22	19	5784427	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10		5784427	53344556	60	15109											
SYDE1	85360	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15223181	15223181	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr19:15223181C>A	ENST00000342784.2	+	7	1634	c.1603C>A	c.(1603-1605)Cac>Aac	p.H535N	SYDE1_ENST00000600440.1_Missense_Mutation_p.H468N|SYDE1_ENST00000600252.1_Missense_Mutation_p.H192N	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	535	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)	p.H535N(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						TCTCCTGGACCACCTGCGCCT	0.627																																																1	Substitution - Missense(1)	kidney(1)											67	49	55					19																	15223181		2203	4297	6500	SO:0001583	missense	85360			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.1603C>A	19.37:g.15223181C>A	ENSP00000341489:p.His535Asn		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071350	0.93950	.	.	ENSG00000105137	ENST00000342784	T	0.25912	1.77	5.82	5.82	0.92795	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.68586	0.3017	H	0.98133	4.155	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;1.0	T	0.80603	-0.1309	10	0.87932	D	0	.	17.5829	0.87973	0.0:1.0:0.0:0.0	.	468;468;535	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	N	535	ENSP00000341489:H535N	ENSP00000341489:H535N	H	+	1	0	SYDE1	15084181	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.249000	0.78278	2.765000	0.95021	0.591000	0.81541	CAC		0.627	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		A	15223181	C	A	15223181	3	1	250	1	0	0	0	0	1	0	0	0	15440	594	21	4	1629	4	SYDE1	19	15223181	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10	9438754	15223181	43905802	61	15110											
ZNF714	148206	broad.mit.edu;hgsc.bcm.edu	37	19	21300510	21300510	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr19:21300510A>G	ENST00000596143.1	+	5	1365	c.1040A>G	c.(1039-1041)aAa>aGa	p.K347R	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K452R(1)|p.K347R(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GAATGTGGCAAAGCCTTTAAT	0.388																																																2	Substitution - Missense(2)	kidney(2)											41	44	43					19																	21300510		2177	4290	6467	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1040A>G	19.37:g.21300510A>G	ENSP00000472368:p.Lys347Arg		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	11.22	1.573376	0.28092	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.955	0.955	0.19602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50905	0.1643	L	0.42581	1.335	0.26162	N	0.979991	D;P;D	0.63046	0.99;0.665;0.992	D;B;D	0.81914	0.951;0.264;0.995	T	0.34229	-0.9837	8	0.66056	D	0.02	.	6.9761	0.24677	1.0:0.0:0.0:0.0	.	348;347;348	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	R	347	.	ENSP00000291770:K347R	K	+	2	0	ZNF714	21092350	1.000000	0.71417	0.360000	0.25837	0.348000	0.29142	6.237000	0.72345	0.378000	0.24764	0.369000	0.22263	AAA		0.388	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		G	21300510	A	G	21300510	3	3	250	1	0	0	0	0	1	0	0	0	18123	14	1	3	1050	3	ZNF714	19	21300510	Missense_Mutation	SNP	A	TCGA-B2-5641-01A-01D-1534-10	6077329	21300510	37828473	62	15111											
ZNF180	7733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45004270	45004270	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr19:45004270G>A	ENST00000221327.4	-	1	304	c.23C>T	c.(22-24)aCg>aTg	p.T8M	ZNF180_ENST00000592529.1_Intron|ZNF180_ENST00000587047.1_Missense_Mutation_p.T8M|ZNF180_ENST00000391956.4_Missense_Mutation_p.T8M|ZNF180_ENST00000586637.1_Intron|ZNF180_ENST00000585514.1_5'UTR|CEACAM20_ENST00000454753.1_RNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T8M(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGCTTCCCGCGTAGACCCTGC	0.672											OREG0025537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(180;1353 2003 32862 46574 49854)											1	Substitution - Missense(1)	kidney(1)											149	135	140					19																	45004270		2203	4300	6503	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.23C>T	19.37:g.45004270G>A	ENSP00000221327:p.Thr8Met	928	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769312	0.31320	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.07567	3.18;3.18	3.47	1.35	0.21983	.	.	.	.	.	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B;B	0.22276	0.067;0.04	B;B	0.09377	0.004;0.002	T	0.40156	-0.9578	9	0.46703	T	0.11	.	4.8159	0.13367	0.0:0.6528:0.2251:0.1221	.	8;8	G5E9B8;Q9UJW8	.;ZN180_HUMAN	M	8	ENSP00000221327:T8M;ENSP00000375818:T8M	ENSP00000221327:T8M	T	-	2	0	ZNF180	49696110	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	0.072000	0.14617	0.476000	0.27440	-0.139000	0.14373	ACG		0.672	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		A	45004270	G	A	45004270	3	1	250	1	0	0	0	0	1	0	0	0	17753	1145	40	1	2075	1	ZNF180	19	45004270	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10	23703760	45004270	14124713	63	15112											
PPFIA3	8541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49641602	49641602	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr19:49641602C>T	ENST00000334186.4	+	16	2343	c.1994C>T	c.(1993-1995)gCc>gTc	p.A665V	PPFIA3_ENST00000602351.1_Missense_Mutation_p.A665V	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	665					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.A665V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCTACCCTTGCCAGCCCCTCC	0.677																																																1	Substitution - Missense(1)	kidney(1)											27	29	28					19																	49641602		2203	4298	6501	SO:0001583	missense	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1994C>T	19.37:g.49641602C>T	ENSP00000335614:p.Ala665Val		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415385	0.83449	.	.	ENSG00000177380	ENST00000334186	T	0.55052	0.54	4.23	4.23	0.50019	.	0.000000	0.47093	D	0.000247	T	0.70552	0.3237	M	0.78637	2.42	0.80722	D	1	P;D	0.69078	0.686;0.997	B;D	0.62955	0.317;0.909	T	0.76503	-0.2935	10	0.72032	D	0.01	-14.9642	15.7417	0.77901	0.0:1.0:0.0:0.0	.	665;665	O75145-2;O75145	.;LIPA3_HUMAN	V	665	ENSP00000335614:A665V	ENSP00000335614:A665V	A	+	2	0	PPFIA3	54333414	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.451000	0.60047	2.062000	0.61559	0.557000	0.71058	GCC		0.677	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		T	49641602	C	T	49641602	3	4	250	1	0	0	0	0	1	0	0	0	12313	739	26	2	2052	2	PPFIA3	19	49641602	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10	4637332	49641602	9487381	64	15113											
MACROD2	140733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	15967710	15967710	+	Splice_Site	SNP	G	G	C			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr20:15967710G>C	ENST00000310348.4	+	15	1060		c.e15-1		MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000407045.3_Splice_Site|MACROD2_ENST00000378058.3_Splice_Site|MACROD2_ENST00000217246.4_Splice_Site			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2						brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.?(4)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ATTCTATTTAGAACTTTCATC	0.388																																																4	Unknown(4)	breast(2)|kidney(2)											143	138	140					20																	15967710		2203	4300	6503	SO:0001630	splice_region_variant	140733			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1061-1G>C	20.37:g.15967710G>C			A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Splice_Site	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665454	0.47677	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.105	0.86660	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MACROD2	15915710	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	5.643000	0.67895	2.783000	0.95769	0.591000	0.81541	.		0.388	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	Intron	C	15967710	G	C	15967710	5	2	250	1	0	0	0	0	0	0	1	0	9148	956	33	4	1118	4	MACROD2	20	15967710	Splice_Site	SNP	G	TCGA-B2-5641-01A-01D-1534-10		15967710	47057810	65	15114											
KIAA0406	9675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	36641291	36641291	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr20:36641291G>T	ENST00000373448.2	-	3	1166	c.928C>A	c.(928-930)Ctg>Atg	p.L310M	TTI1_ENST00000449821.1_Missense_Mutation_p.L310M|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.L310M	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	310					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L310M(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGTTCTACCAGTTCCAGTCTC	0.433																																																1	Substitution - Missense(1)	kidney(1)											125	125	125					20																	36641291		2203	4300	6503	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.928C>A	20.37:g.36641291G>T	ENSP00000362547:p.Leu310Met		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288250	0.40494	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.67698	-0.28;-0.28;-0.28	5.64	3.62	0.41486	Armadillo-like helical (1);Armadillo-type fold (1);	0.125725	0.56097	D	0.000029	T	0.66896	0.2836	M	0.62723	1.935	0.48452	D	0.999653	P	0.46784	0.884	P	0.47162	0.54	T	0.66578	-0.5888	10	0.49607	T	0.09	-6.3216	10.0005	0.41927	0.0781:0.1356:0.7863:0.0	.	310	O43156	TTI1_HUMAN	M	310	ENSP00000362547:L310M;ENSP00000362546:L310M;ENSP00000407270:L310M	ENSP00000362546:L310M	L	-	1	2	TTI1	36074705	0.983000	0.35010	0.873000	0.34254	0.936000	0.57629	1.515000	0.35845	0.861000	0.35504	-0.355000	0.07637	CTG		0.433	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		T	36641291	G	T	36641291	3	4	250	1	0	0	0	0	1	0	0	0	8175	1020	36	4	2369	4	KIAA0406	20	36641291	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10	20673581	36641291	26384229	66	15115											
LBP	3929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	36978015	36978015	+	Silent	SNP	C	C	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr20:36978015C>T	ENST00000217407.2	+	2	350	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	63					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.T63T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGACTTCACCGGGGACTTGA	0.617																																																1	Substitution - coding silent(1)	kidney(1)											33	32	32					20																	36978015		2203	4300	6503	SO:0001819	synonymous_variant	3929				CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.189C>T	20.37:g.36978015C>T			B2R938|O43438|Q92672|Q9H403|Q9UD66	Silent	SNP	ENST00000217407.2	37	CCDS13304.1																																																																																				0.617	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		T	36978015	C	T	36978015	2	4	250	1	0	0	0	0	0	0	0	1	8653	639	23	1		1	LBP	20	36978015	Silent	SNP	C	TCGA-B2-5641-01A-01D-1534-10	336724	36978015	26047505	67	15116											
EFCAB6	64800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	44004465	44004465	+	Missense_Mutation	SNP	C	C	A	rs55698170	byFrequency	TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chr22:44004465C>A	ENST00000262726.7	-	22	2831	c.2578G>T	c.(2578-2580)Gat>Tat	p.D860Y	EFCAB6_ENST00000396231.2_Missense_Mutation_p.D708Y	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	860	EF-hand 9. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.D860Y(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCCTCATTATCGGTTTCTAGA	0.413																																																1	Substitution - Missense(1)	kidney(1)											132	105	114					22																	44004465		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2578G>T	22.37:g.44004465C>A	ENSP00000262726:p.Asp860Tyr		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630499	0.46944	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.30182	1.54;1.54	4.73	4.73	0.59995	EF-hand-like domain (1);	0.065911	0.64402	D	0.000019	T	0.45716	0.1356	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45071	-0.9286	10	0.87932	D	0	-38.6255	16.4373	0.83880	0.0:1.0:0.0:0.0	.	860	Q5THR3	EFCB6_HUMAN	Y	708;860	ENSP00000379533:D708Y;ENSP00000262726:D860Y	ENSP00000262726:D860Y	D	-	1	0	EFCAB6	42335798	0.990000	0.36364	0.065000	0.19835	0.412000	0.31113	4.774000	0.62339	2.607000	0.88179	0.655000	0.94253	GAT		0.413	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		A	44004465	C	A	44004465	3	1	250	1	0	0	0	0	1	0	0	0	4941	884	31	4	1971	4	EFCAB6	22	44004465	Missense_Mutation	SNP	C	TCGA-B2-5641-01A-01D-1534-10		44004465	7300101	68	15117											
KDM5C	8242	hgsc.bcm.edu;ucsc.edu	37	X	53247129	53247135	+	Frame_Shift_Del	DEL	CCACCTT	CCACCTT	-			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	CCACCTT	CCACCTT	CCACCTT	-	CCACCTT	CCACCTT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chrX:53247129_53247135delCCACCTT	ENST00000375401.3	-	4	897_903	c.365_371delAAGGTGG	c.(364-372)gaaggtggtfs	p.EGG122fs	KDM5C_ENST00000375379.3_Frame_Shift_Del_p.EGG122fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.EGG122fs|KDM5C_ENST00000452825.3_Frame_Shift_Del_p.EGG55fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.EGG81fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	122	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.?(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGCTTCATAACCACCTTCCTCCACCAC	0.498			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Unknown(1)	kidney(1)																																								SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.365_371delAAGGTGG	X.37:g.53247129_53247135delCCACCTT	ENSP00000364550:p.Glu122fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.498	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		-	53247135	CCACCTT	-	53247129	7	5	250	1	0	1	0	1	0	0	0	0	8137	507	18	0	4501	0	KDM5C	23	53247129	Frame_Shift_Del	DEL	CCACCTT	TCGA-B2-5641-01A-01D-1534-10		53247129	102023431	69	15118			1	24		2	2	15	N	CCACCTT_C	3.165658e-05
KDM5C	8242	ucsc.edu	37	X	53247143	53247143	+	Silent	SNP	C	C	G			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	C	G	C	C	Unknown	Valid	Somatic	.	WXS	PGM	.		Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chrX:53247143C>G	ENST00000375401.3	-	4	889	c.357G>C	c.(355-357)gtG>gtC	p.V119V	KDM5C_ENST00000375379.3_Silent_p.V119V|KDM5C_ENST00000404049.3_Silent_p.V119V|KDM5C_ENST00000452825.3_Silent_p.V52V|KDM5C_ENST00000375383.3_Silent_p.V78V	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	119	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.?(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTTCCTCCACCACAATCTGAA	0.498			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Unknown(1)	kidney(1)											55	44	48					X																	53247143		2203	4300	6503	SO:0001819	synonymous_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.357G>C	X.37:g.53247143C>G			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	ENST00000375401.3	37	CCDS14351.1																																																																																				0.498	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		G	53247143	C	G	53247143	2	3	250	1	0	0	0	0	0	0	0	1	8137	581	21	4		4	KDM5C	23	53247143	Silent	SNP	C	TCGA-B2-5641-01A-01D-1534-10	14	53247143	102023417	70	15119			1	24		2	2	15	N	CCACCTT_C	3.165658e-05
PHF8	23133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54044120	54044120	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chrX:54044120G>T	ENST00000357988.5	-	5	894	c.536C>A	c.(535-537)aCt>aAt	p.T179N	PHF8_ENST00000338154.6_Missense_Mutation_p.T143N|PHF8_ENST00000322659.8_Missense_Mutation_p.T143N|PHF8_ENST00000338946.6_Missense_Mutation_p.T143N	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	179					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.T143I(2)|p.T143N(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ATCCCTCACAGTGAATGATGG	0.483																																																4	Substitution - Missense(4)	endometrium(2)|kidney(2)											158	105	123					X																	54044120		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.536C>A	X.37:g.54044120G>T	ENSP00000350676:p.Thr179Asn		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.909421|2.909421	0.52439|0.52439	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659	.|T;T;T;T	.|0.27402	.|2.27;2.02;2.05;1.67	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.149372	.|0.64402	.|D	.|0.000018	T|T	0.43344|0.43344	0.1243|0.1243	M|M	0.81497|0.81497	2.545|2.545	0.33282|0.33282	D|D	0.56243|0.56243	.|P;P;B	.|0.46020	.|0.796;0.871;0.396	.|B;B;B	.|0.42738	.|0.303;0.396;0.07	T|T	0.62011|0.62011	-0.6944|-0.6944	5|10	.|0.48119	.|T	.|0.1	-16.527|-16.527	17.9897|17.9897	0.89165|0.89165	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|143;179;179	.|B7Z911;Q9UPP1-3;Q9UPP1	.|.;.;PHF8_HUMAN	M|N	47|179;143;143;173;143	.|ENSP00000350676:T179N;ENSP00000338868:T143N;ENSP00000340051:T143N;ENSP00000319473:T143N	.|ENSP00000319473:T143N	L|T	-|-	1|2	2|0	PHF8|PHF8	54060845|54060845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.056000|2.056000	0.41355|0.41355	2.524000|2.524000	0.85096|0.85096	0.600000|0.600000	0.82982|0.82982	CTG|ACT		0.483	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		T	54044120	G	T	54044120	3	4	250	1	0	0	0	0	1	0	0	0	11842	1029	36	4	2888	4	PHF8	23	54044120	Missense_Mutation	SNP	G	TCGA-B2-5641-01A-01D-1534-10	796977	54044120	101226440	71	15120											
IGSF1	3547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	130410026	130410026	+	Silent	SNP	C	C	T			TCGA-B2-5641-01A-01D-1534-10	TCGA-B2-5641-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b49d3bb5-74fe-4ff0-9b47-131bcb455855	d7319ab4-8498-4599-aad8-54ab2174c541	g.chrX:130410026C>T	ENST00000361420.3	-	15	2884	c.2805G>A	c.(2803-2805)gaG>gaA	p.E935E	IGSF1_ENST00000370903.3_Silent_p.E940E|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Silent_p.E926E|IGSF1_ENST00000370904.1_Silent_p.E926E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	935	Ig-like C2-type 9.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.E935E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCCAGAGTCCTCTGCTCCAA	0.512																																																1	Substitution - coding silent(1)	kidney(1)											97	74	82					X																	130410026		2203	4300	6503	SO:0001819	synonymous_variant	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2805G>A	X.37:g.130410026C>T			B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	CCDS14629.1																																																																																				0.512	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			T	130410026	C	T	130410026	2	4	250	1	0	0	0	0	0	0	0	1	7598	680	24	2		2	IGSF1	23	130410026	Silent	SNP	C	TCGA-B2-5641-01A-01D-1534-10	76365906	130410026	24860534	72	15121											
AMY2B	280	hgsc.bcm.edu	37	1	104122036	104122036	+	Missense_Mutation	SNP	G	G	A	rs143243690	byFrequency	TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:104122036G>A	ENST00000361355.4	+	12	2066	c.1450G>A	c.(1450-1452)Gtt>Att	p.V484I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	484					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TAAAATCTACGTTTCTGACGA	0.323													.|||	2	0.000399361	0.0	0.0	5008	,	,		17291	0.0		0.001	False		,,,				2504	0.001															0								G	ILE/VAL	0,4406		0,0,2203	227	235	232		1450	2.2	0.2	1	dbSNP_134	232	1,8599	1.2+/-3.3	0,1,4299	no	missense	AMY2B	NM_020978.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	484/512	104122036	1,13005	2203	4300	6503	SO:0001583	missense	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1450G>A	chr1.hg19:g.104122036G>A	ENSP00000354610:p.Val484Ile		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	hg19	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900711	0.17686	0.0	1.16E-4	ENSG00000240038	ENST00000361355	T	0.78595	-1.19	4.14	2.25	0.28309	Alpha-amylase, C-terminal all beta (2);Glycosyl hydrolase, family 13, all-beta (1);	0.067775	0.64402	N	0.000017	T	0.74168	0.3681	H	0.95884	3.735	0.48040	D	0.999579	B	0.22346	0.068	B	0.20184	0.028	T	0.72577	-0.4251	10	0.56958	D	0.05	.	8.6944	0.34287	0.2605:0.0:0.7395:0.0	.	484	P19961	AMY2B_HUMAN	I	484	ENSP00000354610:V484I	ENSP00000354610:V484I	V	+	1	0	AMY2B	103923559	1.000000	0.71417	0.165000	0.22776	0.168000	0.22595	4.103000	0.57783	0.339000	0.23719	-0.224000	0.12420	GTT		0.323	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		A	104122036	G	A	104122036	3	1	251	1	0	0	0	0	1	0	0	0	595	1145	40	1	1488	1	AMY2B	1	104122036	Missense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08		104122036	145128585	1	15122											
LRIG2	9860	hgsc.bcm.edu	37	1	113616063	113616063	+	Missense_Mutation	SNP	A	A	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:113616063A>T	ENST00000361127.5	+	1	233	c.35A>T	c.(34-36)cAg>cTg	p.Q12L	RP11-31F15.2_ENST00000421157.1_lincRNA	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	12					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CCGGAGGAGCAGTTGCTGGGG	0.642											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													109	125	120					1																	113616063		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.35A>T	chr1.hg19:g.113616063A>T	ENSP00000355396:p.Gln12Leu	1451	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	hg19	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	9.612	1.131598	0.21041	.	.	ENSG00000198799	ENST00000361127	T	0.60920	0.15	4.86	-2.01	0.07410	.	0.866104	0.09769	N	0.758205	T	0.10637	0.0260	N	0.08118	0	0.21220	N	0.99976	B	0.02656	0.0	B	0.01281	0.0	T	0.18335	-1.0340	10	0.35671	T	0.21	.	0.3463	0.00342	0.1887:0.2563:0.2382:0.3168	.	12	O94898	LRIG2_HUMAN	L	12	ENSP00000355396:Q12L	ENSP00000355396:Q12L	Q	+	2	0	LRIG2	113417586	0.910000	0.30920	0.987000	0.45799	0.031000	0.12232	-0.515000	0.06290	-0.294000	0.08973	-0.290000	0.09829	CAG		0.642	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		T	113616063	A	T	113616063	3	4	251	1	0	0	0	0	1	0	0	0	8947	188	7	5	37	5	LRIG2	1	113616063	Missense_Mutation	SNP	A	TCGA-B3-3925-01A-01D-1458-08	9494027	113616063	135634558	2	15123											
KIAA0907	22889	hgsc.bcm.edu	37	1	155899153	155899153	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:155899153C>G	ENST00000368321.3	-	4	421	c.398G>C	c.(397-399)aGt>aCt	p.S133T	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Missense_Mutation_p.S133T|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S133T	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	133							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGCAGCCCCACTAAGTCGGCT	0.408																																																0													126	119	122					1																	155899153		2203	4300	6503	SO:0001583	missense	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.398G>C	chr1.hg19:g.155899153C>G	ENSP00000357304:p.Ser133Thr		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	hg19	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524402	0.64747	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.34859	1.34;1.34;1.34	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	N	0.16790	0.44	0.80722	D	1	P;P;P;P;P;B	0.50819	0.873;0.939;0.873;0.884;0.682;0.336	P;P;B;P;B;B	0.52646	0.541;0.699;0.439;0.705;0.303;0.395	T	0.01720	-1.1288	10	0.08179	T	0.78	-11.4646	17.2104	0.86929	0.0:1.0:0.0:0.0	.	133;133;133;133;133;133	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	T	133	ENSP00000357304:S133T;ENSP00000357303:S133T;ENSP00000357302:S133T	ENSP00000357302:S133T	S	-	2	0	KIAA0907	154165777	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.105000	0.77031	2.831000	0.97527	0.650000	0.86243	AGT		0.408	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		G	155899153	C	G	155899153	3	3	251	1	0	0	0	0	1	0	0	0	8201	565	20	4	1490	4	KIAA0907	1	155899153	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08	42283090	155899153	93351468	3	15124											
USF1	7391	hgsc.bcm.edu	37	1	161011569	161011569	+	Missense_Mutation	SNP	T	T	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:161011569T>C	ENST00000368021.3	-	6	548	c.344A>G	c.(343-345)cAc>cGc	p.H115R	F11R_ENST00000289779.3_5'Flank|TSTD1_ENST00000423014.2_5'Flank|TSTD1_ENST00000368024.1_5'Flank|USF1_ENST00000368020.1_Missense_Mutation_p.H115R|USF1_ENST00000435396.1_Missense_Mutation_p.H56R|TSTD1_ENST00000368023.3_5'Flank|TSTD1_ENST00000318289.10_5'Flank|USF1_ENST00000368019.1_Missense_Mutation_p.H115R	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	115					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTAAGTATAGTGCGTCTCAGC	0.572											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													95	87	90					1																	161011569		2203	4300	6503	SO:0001583	missense	7391			BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"Basic helix-loop-helix proteins"	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.344A>G	chr1.hg19:g.161011569T>C	ENSP00000357000:p.His115Arg	1813	B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	ENST00000368021.3	hg19	CCDS1214.1	.	.	.	.	.	.	.	.	.	.	T	5.051	0.195050	0.09599	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000435396;ENST00000368019;ENST00000534633	D;D;D;D	0.91740	-2.9;-2.9;-2.85;-2.89	5.23	5.23	0.72850	.	0.048337	0.85682	D	0.000000	T	0.72614	0.3482	N	0.19112	0.55	0.42447	D	0.992738	B	0.11235	0.004	B	0.09377	0.004	T	0.67480	-0.5660	10	0.02654	T	1	-18.6648	13.1223	0.59334	0.0:0.0:0.0:1.0	.	115	P22415	USF1_HUMAN	R	115;115;56;115;56	ENSP00000356999:H115R;ENSP00000357000:H115R;ENSP00000390109:H56R;ENSP00000356998:H115R	ENSP00000356998:H115R	H	-	2	0	USF1	159278193	0.992000	0.36948	0.993000	0.49108	0.996000	0.88848	1.041000	0.30291	2.194000	0.70268	0.533000	0.62120	CAC		0.572	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		C	161011569	T	C	161011569	3	2	251	1	0	0	0	0	1	0	0	0	17037	1696	59	3	612	3	USF1	1	161011569	Missense_Mutation	SNP	T	TCGA-B3-3925-01A-01D-1458-08	5112416	161011569	88239052	4	15125											
IMMT	10989	hgsc.bcm.edu	37	2	86371415	86371415	+	Silent	SNP	T	T	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:86371415T>G	ENST00000410111.3	-	15	2640	c.2253A>C	c.(2251-2253)ggA>ggC	p.G751G	IMMT_ENST00000442664.2_Silent_p.G750G|IMMT_ENST00000409051.2_Silent_p.G704G|IMMT_ENST00000449247.2_Silent_p.G740G|IMMT_ENST00000254636.5_Silent_p.G652G	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	751					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGAGTGGTTCCTATTCCTA	0.478																																																0													68	66	67					2																	86371415		1922	4128	6050	SO:0001819	synonymous_variant	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.2253A>C	chr2.hg19:g.86371415T>G			B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	hg19	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	T	7.004	0.555382	0.13436	.	.	ENSG00000132305	ENST00000419070	.	.	.	5.3	-1.19	0.09585	.	.	.	.	.	T	0.52058	0.1711	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44329	-0.9335	4	.	.	.	-22.8427	7.6657	0.28430	0.0:0.4268:0.1243:0.4489	.	.	.	.	H	606	.	.	N	-	1	0	IMMT	86224926	0.864000	0.29904	0.998000	0.56505	0.905000	0.53344	-0.251000	0.08818	-0.076000	0.12775	-0.256000	0.11100	AAC		0.478	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		G	86371415	T	G	86371415	2	3	251	1	0	0	0	0	0	0	0	1	7720	1770	62	5		5	IMMT	2	86371415	Silent	SNP	T	TCGA-B3-3925-01A-01D-1458-08		86371415	156827958	5	15126											
VWC2L	402117	hgsc.bcm.edu	37	2	215440518	215440518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:215440518G>T	ENST00000312504.5	+	4	1445	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	215					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTCGAAACGTGAATGCCAAGG	0.458																																																0													225	220	221					2																	215440518		2026	4199	6225	SO:0001587	stop_gained	402117			AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"von Willebrand factor C domain-containing protein 2-like"				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.643G>T	chr2.hg19:g.215440518G>T	ENSP00000308976:p.Glu215*		A6NC69|B2RUW7|B7X8X1	Nonsense_Mutation	SNP	ENST00000312504.5	hg19	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	G	44	10.583132	0.99432	.	.	ENSG00000174453	ENST00000312504	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-3.3711	19.5796	0.95461	0.0:0.0:1.0:0.0	.	.	.	.	X	215	.	ENSP00000308976:E215X	E	+	1	0	VWC2L	215148763	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.476000	0.97823	2.624000	0.88883	0.655000	0.94253	GAA		0.458	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		T	215440518	G	T	215440518	4	4	251	1	0	0	0	0	0	1	0	0	17249	1291	45	4	653	4	VWC2L	2	215440518	Nonsense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08	129069103	215440518	27758855	6	15127											
GIGYF2	26058	hgsc.bcm.edu	37	2	233681733	233681734	+	Frame_Shift_Ins	INS	-	-	AGGAAAC			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:233681733_233681734insAGGAAAC	ENST00000409547.1	+	22	2672_2673	c.2361_2362insAGGAAAC	c.(2362-2364)aggfs	p.-790fs	GIGYF2_ENST00000409196.3_Frame_Shift_Ins_p.-784fs|GIGYF2_ENST00000452341.2_Frame_Shift_Ins_p.-621fs|GIGYF2_ENST00000373566.3_Frame_Shift_Ins_p.-812fs|GIGYF2_ENST00000409480.1_Frame_Shift_Ins_p.-812fs|GIGYF2_ENST00000373563.4_Frame_Shift_Ins_p.-790fs|GIGYF2_ENST00000409451.3_Frame_Shift_Ins_p.-811fs	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AACTTGCCCGAAGGAAACAGGT	0.47																																																0																																										SO:0001589	frameshift_variant	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2362_2368dupAGGAAAC	chr2.hg19:g.233681734_233681740dupAGGAAAC	ENSP00000386537:p.Gln790fs		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Frame_Shift_Ins	INS	ENST00000409547.1	hg19	CCDS33401.1																																																																																				0.47	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		AGGAAAC	233681734	-	AGGAAAC	233681733	7	5	251	1	0	1	1	0	0	0	0	0	6380	233	9	0	2501	0	GIGYF2	2	233681733	Frame_Shift_Ins	INS	-	TCGA-B3-3925-01A-01D-1458-08	18241215	233681733	9517640	7	15128											
OGG1	4968	hgsc.bcm.edu	37	3	9798226	9798227	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:9798226_9798227insAA	ENST00000344629.7	+	5	1162_1163	c.819_820insAA	c.(820-822)attfs	p.I274fs	OGG1_ENST00000339511.5_Frame_Shift_Ins_p.I274fs|OGG1_ENST00000302036.7_Frame_Shift_Ins_p.I274fs|OGG1_ENST00000302008.8_Frame_Shift_Ins_p.I274fs|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Frame_Shift_Ins_p.I274fs|OGG1_ENST00000302003.7_Frame_Shift_Ins_p.I274fs|OGG1_ENST00000383826.5_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	274					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATATGTGGCACATTGCCCAACG	0.599								Base excision repair (BER), DNA glycosylases																																								0																																										SO:0001589	frameshift_variant	4968			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	Exception_encountered	chr3.hg19:g.9798226_9798227insAA	ENSP00000342851:p.Ile274fs		A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Frame_Shift_Ins	INS	ENST00000344629.7	hg19	CCDS2581.1																																																																																				0.599	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		AA	9798227	-	AA	9798226	7	5	251	1	0	1	1	0	0	0	0	0	10847	477	17	0	837	0	OGG1	3	9798226	Frame_Shift_Ins	INS	-	TCGA-B3-3925-01A-01D-1458-08		9798226	188224204	8	15129	121	2									
OGG1	4968	hgsc.bcm.edu	37	3	9798228	9798228	+	Missense_Mutation	SNP	T	T	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:9798228T>A	ENST00000344629.7	+	5	1164	c.821T>A	c.(820-822)aTt>aAt	p.I274N	OGG1_ENST00000339511.5_Missense_Mutation_p.I274N|OGG1_ENST00000302036.7_Missense_Mutation_p.I274N|OGG1_ENST00000302008.8_Missense_Mutation_p.I274N|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Missense_Mutation_p.I274N|OGG1_ENST00000302003.7_Missense_Mutation_p.I274N|OGG1_ENST00000383826.5_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	274					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATGTGGCACATTGCCCAACGT	0.602								Base excision repair (BER), DNA glycosylases																																								0													81	78	79					3																	9798228		2203	4300	6503	SO:0001583	missense	4968			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.821T>A	chr3.hg19:g.9798228T>A	ENSP00000342851:p.Ile274Asn		A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	hg19	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.74|17.74	3.464569|3.464569	0.63513|0.63513	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000302003;ENST00000344629;ENST00000302036;ENST00000339511;ENST00000449570;ENST00000302008|ENST00000441094;ENST00000416333	D;D;D;D;D;D|.	0.88046|.	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33|.	5.43|5.43	5.43|5.43	0.79202|0.79202	HhH-GPD domain (2);DNA glycosylase (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);|.	0.044994|.	0.85682|.	D|.	0.000000|.	D|D	0.87124|0.87124	0.6099|0.6099	H|H	0.95745|0.95745	3.715|3.715	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D|D	0.91042|0.91042	0.4872|0.4872	10|5	0.87932|.	D|.	0|.	-15.1918|-15.1918	15.7624|15.7624	0.78096|0.78096	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	274;274;274;274;274;274;274;274|.	E5KPN1;O15527-3;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2|.	.;.;.;.;.;.;OGG1_HUMAN;.|.	N|M	274|172;41	ENSP00000305584:I274N;ENSP00000342851:I274N;ENSP00000306561:I274N;ENSP00000345520:I274N;ENSP00000403598:I274N;ENSP00000305527:I274N|.	ENSP00000305584:I274N|.	I|L	+|+	2|1	0|2	OGG1|OGG1	9773228|9773228	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.135000|0.135000	0.20990|0.20990	7.054000|7.054000	0.76649|0.76649	2.176000|2.176000	0.68965|0.68965	0.533000|0.533000	0.62120|0.62120	ATT|TTG		0.602	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		A	9798228	T	A	9798228	3	1	251	1	0	0	0	0	1	0	0	0	10847	1493	52	5	839	5	OGG1	3	9798228	Missense_Mutation	SNP	T	TCGA-B3-3925-01A-01D-1458-08	2	9798228	188224202	9	15130	121	2									
RAF1	5894	hgsc.bcm.edu	37	3	12633229	12633229	+	Missense_Mutation	SNP	T	T	A	rs368807126		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:12633229T>A	ENST00000251849.4	-	11	1610	c.1171A>T	c.(1171-1173)Agg>Tgg	p.R391W	RAF1_ENST00000542177.1_Missense_Mutation_p.R310W|RAF1_ENST00000442415.2_Missense_Mutation_p.R411W|RAF1_ENST00000534997.1_Missense_Mutation_p.R176W	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACCTCATTCCTGAAGGCCTGG	0.507			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																														Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0								T	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	110	99	103		1171	4	1	3		103	0,8600		0,0,4300	no	missense	RAF1	NM_002880.3	101	0,1,6502	AA,AT,TT		0.0,0.0227,0.0077	probably-damaging	391/649	12633229	1,13005	2203	4300	6503	SO:0001583	missense	5894	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1171A>T	chr3.hg19:g.12633229T>A	ENSP00000251849:p.Arg391Trp		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	hg19	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216060	0.79352	2.27E-4	0.0	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.15	3.96	0.45880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84419	0.5468	L	0.28192	0.835	0.80722	D	1	D;D;D	0.71674	0.994;0.994;0.998	D;D;D	0.77557	0.99;0.985;0.99	D	0.85467	0.1170	10	0.87932	D	0	.	11.796	0.52100	0.0:0.0:0.2774:0.7226	.	310;176;391	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	W	391;411;270;176;310	ENSP00000251849:R391W;ENSP00000401888:R411W;ENSP00000398591:R270W;ENSP00000441186:R176W;ENSP00000443567:R310W	ENSP00000251849:R391W	R	-	1	2	RAF1	12608229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.865000	0.56033	1.047000	0.40274	0.533000	0.62120	AGG		0.507	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		A	12633229	T	A	12633229	3	1	251	1	0	0	0	0	1	0	0	0	13008	1579	55	5	803	5	RAF1	3	12633229	Missense_Mutation	SNP	T	TCGA-B3-3925-01A-01D-1458-08	2835001	12633229	185389201	10	15131											
TOP2B	7155	hgsc.bcm.edu	37	3	25646332	25646332	+	Missense_Mutation	SNP	C	C	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:25646332C>A	ENST00000264331.4	-	33	4407	c.4408G>T	c.(4408-4410)Gat>Tat	p.D1470Y	TOP2B_ENST00000542520.1_Missense_Mutation_p.D322Y|TOP2B_ENST00000540199.1_Missense_Mutation_p.D322Y|TOP2B_ENST00000435706.2_Missense_Mutation_p.D1465Y	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1470					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.D1465Y(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GAAGCAGAATCTTCTTCATTA	0.313																																																1	Substitution - Missense(1)	large_intestine(1)											118	110	112					3																	25646332		1811	4068	5879	SO:0001583	missense	7155			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4408G>T	chr3.hg19:g.25646332C>A	ENSP00000264331:p.Asp1470Tyr		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	hg19		.	.	.	.	.	.	.	.	.	.	C	19.71	3.878740	0.72294	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.49720	0.77;0.85;0.85;0.77	5.48	5.48	0.80851	.	0.262894	0.42964	D	0.000636	T	0.51261	0.1664	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.995;0.996	T	0.61744	-0.7000	10	0.66056	D	0.02	-20.2424	17.9046	0.88914	0.0:1.0:0.0:0.0	.	1470;1465	Q02880;Q02880-2	TOP2B_HUMAN;.	Y	322;1465;1470;322	ENSP00000446023:D322Y;ENSP00000396704:D1465Y;ENSP00000264331:D1470Y;ENSP00000437352:D322Y	ENSP00000264331:D1470Y	D	-	1	0	TOP2B	25621336	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.225000	0.65294	2.722000	0.93159	0.563000	0.77884	GAT		0.313	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				A	25646332	C	A	25646332	3	1	251	1	0	0	0	0	1	0	0	0	16371	913	32	4	488	4	TOP2B	3	25646332	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08	13013103	25646332	172376098	11	15132											
SCN10A	6336	hgsc.bcm.edu	37	3	38835251	38835251	+	Missense_Mutation	SNP	G	G	A	rs140609990		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:38835251G>A	ENST00000449082.2	-	1	250	c.251C>T	c.(250-252)cCg>cTg	p.P84L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	84					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCTGTAGAACGGATCTAGATC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12896	0.0		0.0	False		,,,				2504	0.0															0								G	LEU/PRO	6,4400	9.9+/-24.2	0,6,2197	154	158	157		251	5.2	1	3	dbSNP_134	157	0,8600		0,0,4300	yes	missense	SCN10A	NM_006514.2	98	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	possibly-damaging	84/1957	38835251	6,13000	2203	4300	6503	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.251C>T	chr3.hg19:g.38835251G>A	ENSP00000390600:p.Pro84Leu		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689442	0.48097	0.001362	0.0	ENSG00000185313	ENST00000449082	D	0.96856	-4.15	5.19	5.19	0.71726	.	0.170309	0.52532	D	0.000066	D	0.96842	0.8969	M	0.91612	3.225	0.52501	D	0.999956	D	0.54601	0.967	B	0.41135	0.348	D	0.98036	1.0379	10	0.87932	D	0	.	18.9136	0.92496	0.0:0.0:1.0:0.0	.	84	Q9Y5Y9	SCNAA_HUMAN	L	84	ENSP00000390600:P84L	ENSP00000390600:P84L	P	-	2	0	SCN10A	38810255	1.000000	0.71417	0.997000	0.53966	0.163000	0.22366	9.575000	0.98187	2.704000	0.92352	0.563000	0.77884	CCG		0.572	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		A	38835251	G	A	38835251	3	1	251	1	0	0	0	0	1	0	0	0	13918	1116	39	1	5727	1	SCN10A	3	38835251	Missense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08	13188919	38835251	159187179	12	15133											
ATP6V1A	523	hgsc.bcm.edu	37	3	113503595	113503595	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:113503595C>G	ENST00000273398.3	+	5	587	c.479C>G	c.(478-480)tCg>tGg	p.S160W	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.S127W	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	160					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	AGTGAGAACTCGCTTATCAAA	0.368																																																0													121	116	118					3																	113503595		2203	4300	6503	SO:0001583	missense	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.479C>G	chr3.hg19:g.113503595C>G	ENSP00000273398:p.Ser160Trp		B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	hg19	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634753	0.67130	.	.	ENSG00000114573	ENST00000273398;ENST00000538620;ENST00000496747;ENST00000475322	D;T	0.86956	-2.19;-1.41	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.92502	0.7619	M	0.78916	2.43	0.80722	D	1	D	0.64830	0.994	P	0.61397	0.888	D	0.93432	0.6786	10	0.87932	D	0	-10.5657	15.5979	0.76602	0.0:0.9341:0.0:0.0659	.	160	P38606	VATA_HUMAN	W	160;127;127;160	ENSP00000273398:S160W;ENSP00000439874:S127W	ENSP00000273398:S160W	S	+	2	0	ATP6V1A	114986285	1.000000	0.71417	0.905000	0.35620	0.616000	0.37450	7.253000	0.78320	1.578000	0.49821	0.655000	0.94253	TCG		0.368	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		G	113503595	C	G	113503595	3	3	251	1	0	0	0	0	1	0	0	0	1177	893	31	4	493	4	ATP6V1A	3	113503595	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08	74668344	113503595	84518835	13	15134											
RUFY3	22902	hgsc.bcm.edu	37	4	71659564	71659564	+	IGR	SNP	A	A	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:71659564A>G	ENST00000226328.4	+	0	4233				RUFY3_ENST00000502653.1_Missense_Mutation_p.D414G|RUFY3_ENST00000381006.3_Missense_Mutation_p.D467G	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TTCAAACAGGACTTTGGAGAC	0.527																																																0													52	48	50					4																	71659564		2203	4300	6503	SO:0001628	intergenic_variant	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910		chr4.hg19:g.71659564A>G			B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	hg19	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.597113	0.66332	.	.	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.08720	3.06;3.06	5.87	5.87	0.94306	.	0.237818	0.42294	D	0.000726	T	0.10508	0.0257	.	.	.	0.80722	D	1	B	0.31548	0.328	B	0.31101	0.124	T	0.04900	-1.0919	9	0.51188	T	0.08	-8.0298	16.2631	0.82557	1.0:0.0:0.0:0.0	.	467	Q7L099-3	.	G	467;414	ENSP00000370394:D467G;ENSP00000425400:D414G	ENSP00000370394:D467G	D	+	2	0	RUFY3	71878428	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.930000	0.92872	2.239000	0.73571	0.528000	0.53228	GAC		0.527	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		G	71659564	A	G	71659564	1	3	251	0	1	0	0	0	0	0	0	0	13746	275	10	3		3	RUFY3	4	71659564	IGR	SNP	A	TCGA-B3-3925-01A-01D-1458-08		71659564	119494712	14	15135											
TIGD2	166815	hgsc.bcm.edu	37	4	90035227	90035227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:90035227G>T	ENST00000317005.2	+	1	1260	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	368	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGCAATTTATGAAGTGTCAAG	0.363																																																0													81	80	80					4																	90035227		2203	4300	6503	SO:0001587	stop_gained	166815			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1102G>T	chr4.hg19:g.90035227G>T	ENSP00000317170:p.Glu368*			Nonsense_Mutation	SNP	ENST00000317005.2	hg19	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519555	0.96416	.	.	ENSG00000180346	ENST00000317005	.	.	.	4.36	3.47	0.39725	.	0.000000	0.43110	D	0.000607	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-9.209	6.0713	0.19891	0.1044:0.193:0.7026:0.0	.	.	.	.	X	368	.	ENSP00000317170:E368X	E	+	1	0	TIGD2	90254250	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	2.543000	0.45752	2.264000	0.75181	0.460000	0.39030	GAA		0.363	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		T	90035227	G	T	90035227	4	4	251	1	0	0	0	0	0	1	0	0	15901	1291	45	4	1104	4	TIGD2	4	90035227	Nonsense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08	18375663	90035227	101119049	15	15136											
PCDH18	54510	hgsc.bcm.edu	37	4	138450855	138450855	+	Silent	SNP	G	G	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:138450855G>A	ENST00000344876.4	-	1	2774	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	PCDH18_ENST00000507846.1_Silent_p.H576H|PCDH18_ENST00000510305.1_Silent_p.H7H|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.H796H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	796					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGTGACTGTTGTGACTCTGCC	0.498																																																0													125	109	114					4																	138450855		2203	4300	6503	SO:0001819	synonymous_variant	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2388C>T	chr4.hg19:g.138450855G>A			A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	hg19	CCDS34064.1																																																																																				0.498	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		A	138450855	G	A	138450855	2	1	251	1	0	0	0	0	0	0	0	1	11515	1368	48	2		2	PCDH18	4	138450855	Silent	SNP	G	TCGA-B3-3925-01A-01D-1458-08	48415628	138450855	52703421	16	15137											
ABCE1	6059	hgsc.bcm.edu	37	4	146041306	146041306	+	Splice_Site	SNP	G	G	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:146041306G>A	ENST00000296577.4	+	11	1659		c.e11+1		ABCE1_ENST00000502803.1_Splice_Site|OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1						negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GGGGAAAATGGTAAGTTTTCT	0.313																																																0													66	72	70					4																	146041306		2203	4296	6499	SO:0001630	splice_region_variant	6059			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1144+1G>A	chr4.hg19:g.146041306G>A			O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Splice_Site	SNP	ENST00000296577.4	hg19	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276838	0.80580	.	.	ENSG00000164163	ENST00000296577	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3284	0.94273	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCE1	146260756	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.869000	0.99810	2.623000	0.88846	0.555000	0.69702	.		0.313	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940	Intron	A	146041306	G	A	146041306	5	1	251	1	0	0	0	0	0	0	1	0	64	1275	44	2	1183	2	ABCE1	4	146041306	Splice_Site	SNP	G	TCGA-B3-3925-01A-01D-1458-08	7590451	146041306	45112970	17	15138											
DDR1	780	hgsc.bcm.edu	37	6	30857025	30857025	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:30857025G>A	ENST00000324771.8	+	6	783	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	DDR1_ENST00000454612.2_Missense_Mutation_p.V79M|DDR1_ENST00000418800.2_Missense_Mutation_p.V79M|DDR1_ENST00000376568.3_Missense_Mutation_p.V79M|DDR1_ENST00000513240.1_Missense_Mutation_p.V79M|DDR1_ENST00000452441.1_Missense_Mutation_p.V79M|DDR1_ENST00000508312.1_Missense_Mutation_p.V97M|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Missense_Mutation_p.V79M|DDR1_ENST00000376567.2_Missense_Mutation_p.V79M|DDR1_ENST00000376570.4_Missense_Mutation_p.V79M|DDR1_ENST00000446312.1_Missense_Mutation_p.V79M|DDR1_ENST00000361741.4_5'Flank|DDR1_ENST00000376569.3_Missense_Mutation_p.V79M			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	79	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGCAGGGTCGGTGTTTCCCAA	0.647																																																0													174	186	181					6																	30857025		1511	2709	4220	SO:0001583	missense	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.235G>A	chr6.hg19:g.30857025G>A	ENSP00000318217:p.Val79Met		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	hg19	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.45|16.45	3.125934|3.125934	0.56721|0.56721	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000424544|ENST00000505066;ENST00000460944;ENST00000324771;ENST00000505534;ENST00000508317;ENST00000418800;ENST00000509639;ENST00000454612;ENST00000437124;ENST00000396342;ENST00000512694;ENST00000515233;ENST00000515881;ENST00000376569;ENST00000511510;ENST00000376575;ENST00000376570;ENST00000446312;ENST00000504927;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000512336;ENST00000421124;ENST00000512725;ENST00000504679;ENST00000503495;ENST00000376567;ENST00000513240	.|D;D;D;D;D;D;D;D;D;D;D;D;T;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.98987	.|-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;0.66;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	.|0.156961	.|0.41396	.|D	.|0.000884	D|D	0.98729|0.98729	0.9573|0.9573	M|M	0.67517|0.67517	2.055|2.055	0.20563|0.20563	N|N	0.99989|0.99989	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.973;0.984;0.998;0.976;1.0	D|D	0.95690|0.95690	0.8739|0.8739	5|10	.|0.87932	.|D	.|0	.|.	11.2046|11.2046	0.48762|0.48762	0.0:0.1855:0.8145:0.0|0.0:0.1855:0.8145:0.0	.|.	.|79;105;97;79;79	.|Q08345-4;B7Z3A2;B7Z2K0;Q08345-5;Q08345	.|.;.;.;.;DDR1_HUMAN	D|M	62|79;79;79;79;79;79;79;79;79;79;79;79;79;79;79;79;79;79;79;79;79;79;97;79;79;79;79;105;79;79	.|ENSP00000421189:V79M;ENSP00000426420:V79M;ENSP00000318217:V79M;ENSP00000420833:V79M;ENSP00000427369:V79M;ENSP00000407699:V79M;ENSP00000422331:V79M;ENSP00000406091:V79M;ENSP00000394273:V79M;ENSP00000379631:V79M;ENSP00000426229:V79M;ENSP00000422467:V79M;ENSP00000423492:V79M;ENSP00000365753:V79M;ENSP00000425113:V79M;ENSP00000365759:V79M;ENSP00000365754:V79M;ENSP00000405998:V79M;ENSP00000427597:V79M;ENSP00000390593:V79M;ENSP00000365752:V79M;ENSP00000405039:V79M;ENSP00000422442:V97M;ENSP00000421719:V79M;ENSP00000409682:V79M;ENSP00000422108:V79M;ENSP00000423906:V79M;ENSP00000423749:V105M;ENSP00000365751:V79M;ENSP00000427552:V79M	.|ENSP00000318217:V79M	G|V	+|+	2|1	0|0	DDR1|DDR1	30965004|30965004	1.000000|1.000000	0.71417|0.71417	0.415000|0.415000	0.26534|0.26534	0.938000|0.938000	0.57974|0.57974	4.107000|4.107000	0.57811|0.57811	2.509000|2.509000	0.84616|0.84616	0.305000|0.305000	0.20034|0.20034	GGT|GTG		0.647	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		A	30857025	G	A	30857025	3	1	251	1	0	0	0	0	1	0	0	0	4338	1261	44	2	245	2	DDR1	6	30857025	Missense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08		30857025	140258042	18	15139											
PREP	5550	hgsc.bcm.edu	37	6	105825364	105825364	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:105825364C>G	ENST00000369110.3	-	3	343	c.151G>C	c.(151-153)Gtg>Ctg	p.V51L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	51					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.V51L(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGAAATGGCACAGTAATCTTA	0.353																																																1	Substitution - Missense(1)	lung(1)											95	93	94					6																	105825364		2203	4300	6503	SO:0001583	missense	5550				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.151G>C	chr6.hg19:g.105825364C>G	ENSP00000358106:p.Val51Leu		Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	hg19	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812019	0.32053	.	.	ENSG00000085377	ENST00000369110	T	0.44881	0.91	5.76	4.89	0.63831	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.241940	0.41823	D	0.000804	T	0.07098	0.0180	N	0.01352	-0.895	0.39317	D	0.965174	B	0.02656	0.0	B	0.01281	0.0	T	0.15065	-1.0450	10	0.25751	T	0.34	-16.8555	10.4377	0.44445	0.0:0.8553:0.0:0.1447	.	51	P48147	PPCE_HUMAN	L	51	ENSP00000358106:V51L	ENSP00000358106:V51L	V	-	1	0	PREP	105932057	0.730000	0.28100	0.982000	0.44146	0.979000	0.70002	1.374000	0.34283	2.700000	0.92200	0.650000	0.86243	GTG		0.353	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			G	105825364	C	G	105825364	3	3	251	1	0	0	0	0	1	0	0	0	12479	478	17	4	2033	4	PREP	6	105825364	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08	74968339	105825364	65289703	19	15140											
ROS1	6098	hgsc.bcm.edu	37	6	117622147	117622147	+	Missense_Mutation	SNP	T	T	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:117622147T>G	ENST00000368508.3	-	42	6921	c.6723A>C	c.(6721-6723)gaA>gaC	p.E2241D	RN7SKP18_ENST00000516005.1_RNA|RN7SKP51_ENST00000410781.1_RNA|ROS1_ENST00000368507.3_Missense_Mutation_p.E2235D	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2241					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTCAAAGCTTTCATTTATGA	0.333			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													77	74	75					6																	117622147		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6723A>C	chr6.hg19:g.117622147T>G	ENSP00000357494:p.Glu2241Asp		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	hg19	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.713310	0.30413	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71341	-0.56;-0.56	4.98	1.37	0.22104	.	0.267889	0.32190	N	0.006450	T	0.30823	0.0777	L	0.27053	0.805	0.23174	N	0.998172	B	0.24963	0.115	B	0.20577	0.03	T	0.18871	-1.0323	10	0.30854	T	0.27	.	7.4549	0.27261	0.0:0.2549:0.0:0.7451	.	2241	P08922	ROS1_HUMAN	D	2241;2235	ENSP00000357494:E2241D;ENSP00000357493:E2235D	ENSP00000357493:E2235D	E	-	3	2	ROS1	117728840	0.999000	0.42202	0.996000	0.52242	0.448000	0.32197	0.295000	0.19065	0.439000	0.26476	0.459000	0.35465	GAA		0.333	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			G	117622147	T	G	117622147	3	3	251	1	0	0	0	0	1	0	0	0	13537	1838	64	5	328	5	ROS1	6	117622147	Missense_Mutation	SNP	T	TCGA-B3-3925-01A-01D-1458-08	11796783	117622147	53492920	20	15141											
POLM	27434	hgsc.bcm.edu	37	7	44121926	44121926	+	Missense_Mutation	SNP	G	G	T	rs375526665		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:44121926G>T	ENST00000242248.5	-	1	213	c.112C>A	c.(112-114)Cgc>Agc	p.R38S	POLM_ENST00000335195.6_Missense_Mutation_p.R38S|POLM_ENST00000395831.3_Missense_Mutation_p.R38S	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	38	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CGACCCATGCGAGGCTCGACC	0.751								DNA polymerases (catalytic subunits)																																								0								G	SER/ARG	1,4241		0,1,2120	6	8	7		112	4.4	0.8	7		7	0,8326		0,0,4163	no	missense	POLM	NM_013284.2	110	0,1,6283	TT,TG,GG		0.0,0.0236,0.0080	possibly-damaging	38/495	44121926	1,12567	2121	4163	6284	SO:0001583	missense	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.112C>A	chr7.hg19:g.44121926G>T	ENSP00000242248:p.Arg38Ser		D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	hg19	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451233	0.84209	2.36E-4	0.0	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831;ENST00000414235;ENST00000452049	T;T;T;T;T	0.36699	2.24;2.54;1.55;1.24;1.24	5.31	4.41	0.53225	BRCT (3);	0.108961	0.64402	D	0.000019	T	0.51143	0.1657	M	0.61703	1.905	0.40282	D	0.978403	P;D;D;D;P;P	0.62365	0.638;0.959;0.991;0.976;0.894;0.819	B;P;P;P;P;B	0.59948	0.162;0.796;0.866;0.813;0.591;0.439	T	0.55515	-0.8129	10	0.72032	D	0.01	-27.4319	11.1603	0.48512	0.0:0.0:0.8158:0.1842	.	38;38;38;38;38;38	B4DG75;Q6PIY2;Q9H980;Q86WQ9;Q6P5X8;Q9NP87	.;.;.;.;.;DPOLM_HUMAN	S	38	ENSP00000335141:R38S;ENSP00000242248:R38S;ENSP00000379174:R38S;ENSP00000390899:R38S;ENSP00000399244:R38S	ENSP00000242248:R38S	R	-	1	0	POLM	44088451	0.981000	0.34729	0.836000	0.33094	0.795000	0.44927	1.385000	0.34408	1.202000	0.43218	0.561000	0.74099	CGC		0.751	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		T	44121926	G	T	44121926	3	4	251	1	0	0	0	0	1	0	0	0	12208	1058	37	4	1416	4	POLM	7	44121926	Missense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08		44121926	115016737	21	15142											
ASB15	142685	hgsc.bcm.edu	37	7	123264837	123264837	+	Missense_Mutation	SNP	C	C	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:123264837C>A	ENST00000451558.1	+	10	1187	c.666C>A	c.(664-666)caC>caA	p.H222Q	ASB15_ENST00000434204.1_Missense_Mutation_p.H222Q|ASB15_ENST00000451215.1_Missense_Mutation_p.H222Q|RP11-390E23.3_ENST00000451016.1_RNA|RP11-390E23.3_ENST00000429396.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.H222Q|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.H222Q|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	222					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGTATGGTCACTGTGACGTGT	0.468											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													132	95	107					7																	123264837		2203	4300	6503	SO:0001583	missense	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.666C>A	chr7.hg19:g.123264837C>A	ENSP00000397655:p.His222Gln	1525	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	hg19	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811718	0.32053	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000447789;ENST00000275699	T;T;T;T;T;T	0.65549	-0.1;-0.1;-0.1;-0.1;-0.16;-0.1	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	L	0.33792	1.035	0.58432	D	0.999999	D	0.54601	0.967	P	0.58391	0.838	T	0.60924	-0.7166	10	0.22706	T	0.39	-7.5108	19.4438	0.94838	0.0:1.0:0.0:0.0	.	222	Q8WXK1	ASB15_HUMAN	Q	222;222;222;222;11;222;222	ENSP00000397655:H222Q;ENSP00000390963:H222Q;ENSP00000416433:H222Q;ENSP00000438643:H222Q;ENSP00000401166:H222Q;ENSP00000275699:H222Q	ENSP00000275699:H222Q	H	+	3	2	ASB15	123052073	0.988000	0.35896	1.000000	0.80357	0.235000	0.25334	1.161000	0.31773	2.674000	0.91012	0.491000	0.48974	CAC		0.468	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			A	123264837	C	A	123264837	3	1	251	1	0	0	0	0	1	0	0	0	1019	564	20	4	684	4	ASB15	7	123264837	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08	79142911	123264837	35873826	22	15143											
MGAM	8972	hgsc.bcm.edu	37	7	141800677	141800677	+	Missense_Mutation	SNP	T	T	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:141800677T>G	ENST00000549489.2	+	45	5357	c.5262T>G	c.(5260-5262)gaT>gaG	p.D1754E	MGAM_ENST00000475668.2_Missense_Mutation_p.D2650E	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1754	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGGATGATGGGCAAAGCA	0.502																																																0													86	86	86					7																	141800677		1981	4153	6134	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5262T>G	chr7.hg19:g.141800677T>G	ENSP00000447378:p.Asp1754Glu		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	hg19	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.550375	0.65311	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.96265	-3.96	4.83	1.2	0.21068	.	.	.	.	.	D	0.97343	0.9131	M	0.89414	3.03	0.24431	N	0.994574	D	0.55172	0.97	P	0.56823	0.807	D	0.92205	0.5771	9	0.87932	D	0	.	7.7862	0.29093	0.0:0.3312:0.0:0.6688	.	1754	O43451	MGA_HUMAN	E	1754;2651	ENSP00000447378:D1754E	ENSP00000373973:D1754E	D	+	3	2	MGAM	141447146	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	0.614000	0.24314	0.058000	0.16222	-0.269000	0.10298	GAT		0.502	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			G	141800677	T	G	141800677	3	3	251	1	0	0	0	0	1	0	0	0	9543	1461	51	5	5436	5	MGAM	7	141800677	Missense_Mutation	SNP	T	TCGA-B3-3925-01A-01D-1458-08	18535840	141800677	17337986	23	15144											
SNTB1	6641	hgsc.bcm.edu	37	8	121587444	121587444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr8:121587444G>A	ENST00000395601.3	-	5	1432	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	SNTB1_ENST00000517992.1_Nonsense_Mutation_p.Q340*|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	340	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGTTTCCACTGTTTCTTGCTC	0.483																																																0													149	139	142					8																	121587444		2203	4300	6503	SO:0001587	stop_gained	6641			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1018C>T	chr8.hg19:g.121587444G>A	ENSP00000378965:p.Gln340*		A8K9E0|O14912|Q4KMG8	Nonsense_Mutation	SNP	ENST00000395601.3	hg19	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	G	40	8.420009	0.98803	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	.	.	.	6.01	5.11	0.69529	.	0.476872	0.25380	N	0.031082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7345	0.85444	0.0:0.0:0.8703:0.1297	.	.	.	.	X	340	.	ENSP00000378965:Q340X	Q	-	1	0	SNTB1	121656625	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	6.995000	0.76257	2.861000	0.98227	0.650000	0.86243	CAG		0.483	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		A	121587444	G	A	121587444	4	1	251	1	0	0	0	0	0	1	0	0	14878	1386	48	2	614	2	SNTB1	8	121587444	Nonsense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08		121587444	24776578	24	15145											
C10orf12	26148	hgsc.bcm.edu	37	10	98741324	98741326	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:98741324_98741326delTTT	ENST00000286067.2	+	1	284_286	c.177_179delTTT	c.(175-180)acttta>aca	p.L60del		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	60										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGAGAATACTTTACAGTGTCCA	0.404																																																0																																										SO:0001651	inframe_deletion	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.177_179delTTT	chr10.hg19:g.98741324_98741326delTTT	ENSP00000286067:p.Leu60del		Q9H945|Q9Y457	In_Frame_Del	DEL	ENST00000286067.2	hg19	CCDS7452.1																																																																																				0.404	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		-	98741326	TTT	-	98741324	7	5	251	1	0	1	0	1	0	0	0	0	1591	1596	56	0	179	0	C10orf12	10	98741324	In_Frame_Del	DEL	TTT	TCGA-B3-3925-01A-01D-1458-08		98741324	36793423	25	15146											
COL17A1	1308	hgsc.bcm.edu	37	10	105793764	105793764	+	Silent	SNP	A	A	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:105793764A>G	ENST00000353479.5	-	52	4385	c.4095T>C	c.(4093-4095)gcT>gcC	p.A1365A	COL17A1_ENST00000369733.3_Silent_p.A1283A	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1365	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGCAAAGTCAGCTCCCAATA	0.587																																																0													109	106	107					10																	105793764		2203	4300	6503	SO:0001819	synonymous_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.4095T>C	chr10.hg19:g.105793764A>G			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	hg19	CCDS7554.1																																																																																				0.587	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		G	105793764	A	G	105793764	2	3	251	1	0	0	0	0	0	0	0	1	3676	175	7	3		3	COL17A1	10	105793764	Silent	SNP	A	TCGA-B3-3925-01A-01D-1458-08	7052440	105793764	29740983	26	15147											
PTPRE	5791	hgsc.bcm.edu	37	10	129859261	129859261	+	Silent	SNP	C	C	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:129859261C>A	ENST00000254667.3	+	8	849	c.570C>A	c.(568-570)atC>atA	p.I190I	PTPRE_ENST00000419012.2_Silent_p.I190I|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Silent_p.I132I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	190	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CAGACTACATCAATGCTTCCT	0.483																																					Colon(52;977 1184 20575 41685)											0													175	160	165					10																	129859261		2203	4300	6503	SO:0001819	synonymous_variant	5791			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.570C>A	chr10.hg19:g.129859261C>A			Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	hg19	CCDS7657.1																																																																																				0.483	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			A	129859261	C	A	129859261	2	1	251	1	0	0	0	0	0	0	0	1	12806	816	29	4		4	PTPRE	10	129859261	Silent	SNP	C	TCGA-B3-3925-01A-01D-1458-08	24065497	129859261	5675486	27	15148											
PAOX	196743	hgsc.bcm.edu	37	10	135193909	135193909	+	Silent	SNP	C	C	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:135193909C>T	ENST00000278060.5	+	2	671	c.588C>T	c.(586-588)ggC>ggT	p.G196G	PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Silent_p.G196G|PAOX_ENST00000357296.3_Silent_p.G196G|AL360181.1_ENST00000597657.1_5'Flank	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	334					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GTGTGAGCGGCACCCACAGCA	0.622																																																0													33	36	35					10																	135193909		2202	4299	6501	SO:0001819	synonymous_variant	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.588C>T	chr10.hg19:g.135193909C>T			D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	hg19	CCDS7683.1																																																																																				0.622	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		T	135193909	C	T	135193909	2	4	251	1	0	0	0	0	0	0	0	1	11425	697	25	2		2	PAOX	10	135193909	Silent	SNP	C	TCGA-B3-3925-01A-01D-1458-08	5334648	135193909	340838	28	15149											
GYS2	2998	hgsc.bcm.edu	37	12	21757442	21757442	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:21757442G>T	ENST00000261195.2	-	1	339	c.85C>A	c.(85-87)Ctg>Atg	p.L29M		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	29					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAGAGCAGTAACTCCTCC	0.493																																					Colon(149;9 1820 3690 10544 50424)											0													117	114	115					12																	21757442		2203	4299	6502	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.85C>A	chr12.hg19:g.21757442G>T	ENSP00000261195:p.Leu29Met		A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	hg19	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864428	0.51482	.	.	ENSG00000111713	ENST00000261195	T	0.66638	-0.22	5.28	2.44	0.29823	.	0.076400	0.53938	D	0.000050	T	0.52964	0.1767	N	0.19112	0.55	0.34049	D	0.655926	P	0.52577	0.954	P	0.48166	0.569	T	0.61584	-0.7033	10	0.46703	T	0.11	-15.2558	7.1986	0.25868	0.35:0.0:0.65:0.0	.	29	P54840	GYS2_HUMAN	M	29	ENSP00000261195:L29M	ENSP00000261195:L29M	L	-	1	2	GYS2	21648709	0.646000	0.27295	0.229000	0.23960	0.989000	0.77384	0.796000	0.26986	0.361000	0.24292	0.655000	0.94253	CTG		0.493	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		T	21757442	G	T	21757442	3	4	251	1	0	0	0	0	1	0	0	0	6915	1020	36	4	2090	4	GYS2	12	21757442	Missense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08		21757442	112094453	29	15150											
TSFM	25895	hgsc.bcm.edu	37	12	58177005	58177005	+	IGR	SNP	C	C	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:58177005C>T	ENST00000300209.8	+	0	2563				TSFM_ENST00000454289.3_Missense_Mutation_p.T57I|RP11-571M6.15_ENST00000471530.1_Nonsense_Mutation_p.Q72*|TSFM_ENST00000350762.5_5'UTR|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000540550.1_Missense_Mutation_p.T57I|TSFM_ENST00000550559.1_Missense_Mutation_p.T57I|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000548851.1_Missense_Mutation_p.T57I|TSFM_ENST00000543727.1_Missense_Mutation_p.T57I|TSFM_ENST00000323833.8_Missense_Mutation_p.T57I	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CGGCGGAAAACAGGCTACTCC	0.582											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													100	110	107					12																	58177005		2203	4300	6503	SO:0001628	intergenic_variant	10102			AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		chr12.hg19:g.58177005C>T		1028	Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	hg19	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599184	0.87055	.	.	ENSG00000123297	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000550559;ENST00000548851;ENST00000434359;ENST00000457189	.	.	.	5.29	5.29	0.74685	Translation elongation factor Ts, conserved site (1);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.89784	0.6815	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92805	0.6259	9	0.87932	D	0	.	17.8551	0.88760	0.0:1.0:0.0:0.0	.	57;57;57	B4E391;P43897;P43897-2	.;EFTS_HUMAN;.	I	57;57;57;57;57;57;7;7	.	ENSP00000313877:T57I	T	+	2	0	TSFM	56463272	1.000000	0.71417	0.991000	0.47740	0.509000	0.34042	6.612000	0.74187	2.753000	0.94483	0.462000	0.41574	ACA		0.582	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		T	58177005	C	T	58177005	1	4	251	0	1	0	0	0	0	0	0	0	16620	478	17	2		2	TSFM	12	58177005	IGR	SNP	C	TCGA-B3-3925-01A-01D-1458-08	36419563	58177005	75674890	30	15151											
CCDC63	160762	hgsc.bcm.edu	37	12	111321841	111321841	+	Missense_Mutation	SNP	G	G	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:111321841G>C	ENST00000308208.5	+	8	1103	c.861G>C	c.(859-861)aaG>aaC	p.K287N	CCDC63_ENST00000545036.1_Missense_Mutation_p.K247N|CCDC63_ENST00000552694.1_Missense_Mutation_p.K208N	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	287										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAGCTCTCAAGGCAAAGAAGC	0.502																																																0													129	129	129					12																	111321841		2203	4300	6503	SO:0001583	missense	160762			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.861G>C	chr12.hg19:g.111321841G>C	ENSP00000312399:p.Lys287Asn		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	hg19	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177145	0.38413	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.21734	1.99;1.99;1.99	5.68	4.78	0.61160	.	0.332758	0.32357	N	0.006214	T	0.45836	0.1362	M	0.83012	2.62	0.33081	D	0.536687	D	0.71674	0.998	D	0.66351	0.943	T	0.64296	-0.6441	10	0.66056	D	0.02	.	10.8325	0.46669	0.089:0.0:0.911:0.0	.	287	Q8NA47	CCD63_HUMAN	N	247;287;208	ENSP00000445881:K247N;ENSP00000312399:K287N;ENSP00000450217:K208N	ENSP00000312399:K287N	K	+	3	2	CCDC63	109806224	0.905000	0.30787	0.841000	0.33234	0.034000	0.12701	1.260000	0.32968	1.383000	0.46405	0.655000	0.94253	AAG		0.502	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		C	111321841	G	C	111321841	3	2	251	1	0	0	0	0	1	0	0	0	2836	991	35	4	887	4	CCDC63	12	111321841	Missense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08	53144836	111321841	22530054	31	15152											
ANAPC5	51433	hgsc.bcm.edu	37	12	121746455	121746458	+	Frame_Shift_Del	DEL	TTCT	TTCT	-	rs146935401		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	TTCT	TTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:121746455_121746458delTTCT	ENST00000261819.3	-	17	2214_2217	c.2093_2096delAGAA	c.(2092-2097)aagaacfs	p.KN698fs	ANAPC5_ENST00000344395.4_Frame_Shift_Del_p.KN586fs|ANAPC5_ENST00000441917.2_Frame_Shift_Del_p.KN586fs|ANAPC5_ENST00000535482.1_Frame_Shift_Del_p.KN364fs|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Frame_Shift_Del_p.KN685fs	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	698					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCAAAATAGTTCTTGGCTTCATT	0.49																																																0																																										SO:0001589	frameshift_variant	51433			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2093_2096delAGAA	chr12.hg19:g.121746455_121746458delTTCT	ENSP00000261819:p.Lys698fs		E9PFB2|Q8N4H7|Q9BQD4	Frame_Shift_Del	DEL	ENST00000261819.3	hg19	CCDS9220.1																																																																																				0.49	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			-	121746458	TTCT	-	121746455	7	5	251	1	0	1	0	1	0	0	0	0	605	1725	60	0	175	0	ANAPC5	12	121746455	Frame_Shift_Del	DEL	TTCT	TCGA-B3-3925-01A-01D-1458-08	10424614	121746455	12105440	32	15153											
MYH7	4625	hgsc.bcm.edu	37	14	23886422	23886422	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr14:23886422C>T	ENST00000355349.3	-	32	4621	c.4459G>A	c.(4459-4461)Gcc>Acc	p.A1487T	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1487					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCATAGGCGTTCTTGAGT	0.597																																																0													118	124	122					14																	23886422		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4459G>A	chr14.hg19:g.23886422C>T	ENSP00000347507:p.Ala1487Thr		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374149	0.82573	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78364	-1.17	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.84000	0.5376	M	0.81942	2.565	0.39473	D	0.967754	P	0.43662	0.814	P	0.50440	0.641	D	0.86199	0.1617	9	0.59425	D	0.04	.	13.987	0.64341	0.1513:0.8487:0.0:0.0	.	1487	P12883	MYH7_HUMAN	T	1487;1492	ENSP00000347507:A1487T	ENSP00000347507:A1487T	A	-	1	0	MYH7	22956262	0.987000	0.35691	0.998000	0.56505	0.982000	0.71751	2.764000	0.47613	2.746000	0.94184	0.591000	0.81541	GCC		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23886422	C	T	23886422	3	4	251	1	0	0	0	0	1	0	0	0	10041	768	27	1	1384	1	MYH7	14	23886422	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08		23886422	83463118	33	15154											
PLCB2	5330	hgsc.bcm.edu	37	15	40594160	40594160	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:40594160T>A	ENST00000260402.3	-	7	829	c.580A>T	c.(580-582)Aaa>Taa	p.K194*	PLCB2_ENST00000456256.2_Nonsense_Mutation_p.K194*|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Nonsense_Mutation_p.K194*|PLCB2_ENST00000557821.1_Nonsense_Mutation_p.K194*	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	194					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCACTCACTTTGCCTTTGGGG	0.582																																																0													43	46	45					15																	40594160		2018	4185	6203	SO:0001587	stop_gained	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.580A>T	chr15.hg19:g.40594160T>A	ENSP00000260402:p.Lys194*		A8K6J2|B9EGH5	Nonsense_Mutation	SNP	ENST00000260402.3	hg19	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	37	6.183272	0.97357	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9216	0.70843	0.0:0.0:0.0:1.0	.	.	.	.	X	194	.	ENSP00000260402:K194X	K	-	1	0	PLCB2	38381452	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	4.795000	0.62489	2.185000	0.69588	0.454000	0.30748	AAA		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			A	40594160	T	A	40594160	4	1	251	1	0	0	0	0	0	1	0	0	12030	1821	63	5	3081	5	PLCB2	15	40594160	Nonsense_Mutation	SNP	T	TCGA-B3-3925-01A-01D-1458-08		40594160	61937232	34	15155											
GLDN	342035	hgsc.bcm.edu	37	15	51693835	51693835	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:51693835G>A	ENST00000335449.6	+	9	1129	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	GLDN_ENST00000396399.2_Missense_Mutation_p.G234D	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	358	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CTTCTGAATGGCAGTTACACG	0.483											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													267	204	226					15																	51693835		2196	4293	6489	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1073G>A	chr15.hg19:g.51693835G>A	ENSP00000335196:p.Gly358Asp	979	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	hg19	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	4.101	0.016804	0.07959	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.88431	-2.38;-2.38	5.71	3.4	0.38934	Olfactomedin-like (3);	0.890672	0.09441	N	0.801780	T	0.77274	0.4106	N	0.14661	0.345	0.20638	N	0.999872	B	0.13594	0.008	B	0.16289	0.015	T	0.61855	-0.6977	10	0.12103	T	0.63	.	7.3269	0.26560	0.359:0.0:0.641:0.0	.	358	Q6ZMI3	GLDN_HUMAN	D	358;234;234	ENSP00000335196:G358D;ENSP00000379681:G234D	ENSP00000335196:G358D	G	+	2	0	GLDN	49481127	0.992000	0.36948	0.561000	0.28357	0.921000	0.55340	1.691000	0.37721	1.316000	0.45131	0.655000	0.94253	GGC		0.483	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		A	51693835	G	A	51693835	3	1	251	1	0	0	0	0	1	0	0	0	6436	1203	42	2	1107	2	GLDN	15	51693835	Missense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08	11099675	51693835	50837557	35	15156											
VPS13C	54832	hgsc.bcm.edu	37	15	62221845	62221845	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:62221845C>G	ENST00000261517.5	-	51	6214	c.6141G>C	c.(6139-6141)aaG>aaC	p.K2047N	VPS13C_ENST00000249837.3_Missense_Mutation_p.K2004N|VPS13C_ENST00000395896.4_Missense_Mutation_p.K2047N|VPS13C_ENST00000395898.3_Missense_Mutation_p.K2004N	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATACATACAGCTTGTCAAGAA	0.368																																																0													192	162	172					15																	62221845		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6141G>C	chr15.hg19:g.62221845C>G	ENSP00000261517:p.Lys2047Asn			Missense_Mutation	SNP	ENST00000261517.5	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069131	0.76301	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.46451	0.87;0.87;1.04;1.03	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	M	0.71581	2.175	0.80722	D	1	P;P;P;B	0.40794	0.544;0.729;0.544;0.409	B;B;B;B	0.44044	0.176;0.439;0.34;0.336	T	0.51601	-0.8685	10	0.37606	T	0.19	.	18.867	0.92296	0.0:1.0:0.0:0.0	.	2004;2047;2004;2047	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	N	2004;2047;2047;2047	ENSP00000249837:K2004N;ENSP00000261517:K2047N;ENSP00000379233:K2047N;ENSP00000379235:K2047N	ENSP00000249837:K2004N	K	-	3	2	VPS13C	60009137	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.197000	0.42696	2.442000	0.82660	0.655000	0.94253	AAG		0.368	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		G	62221845	C	G	62221845	3	3	251	1	0	0	0	0	1	0	0	0	17196	796	28	4	5288	4	VPS13C	15	62221845	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08	10528010	62221845	40309547	36	15157											
MYO9A	4649	hgsc.bcm.edu	37	15	72192125	72192125	+	Silent	SNP	T	T	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:72192125T>G	ENST00000356056.5	-	24	3845	c.3373A>C	c.(3373-3375)Aga>Cga	p.R1125R	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Silent_p.R1106R|MYO9A_ENST00000566885.1_Silent_p.R745R|MYO9A_ENST00000564571.1_Silent_p.R1125R|MYO9A_ENST00000424560.1_Silent_p.R1125R	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1125	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTTTCCATCTTGCTTGTATG	0.438																																																0													85	81	82					15																	72192125		2199	4297	6496	SO:0001819	synonymous_variant	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3373A>C	chr15.hg19:g.72192125T>G			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	hg19	CCDS10239.1																																																																																				0.438	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		G	72192125	T	G	72192125	2	3	251	1	0	0	0	0	0	0	0	1	10086	1617	56	5		5	MYO9A	15	72192125	Silent	SNP	T	TCGA-B3-3925-01A-01D-1458-08	9970280	72192125	30339267	37	15158											
BTBD12	84464	hgsc.bcm.edu	37	16	3641173	3641173	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr16:3641173C>G	ENST00000294008.3	-	12	3106	c.2466G>C	c.(2464-2466)atG>atC	p.M822I		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	822	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CATCTGCCCACATTGACCTCA	0.468								Direct reversal of damage																																								0													165	176	172					16																	3641173		2197	4300	6497	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2466G>C	chr16.hg19:g.3641173C>G	ENSP00000294008:p.Met822Ile		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	hg19	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727924	0.69074	.	.	ENSG00000188827	ENST00000294008	T	0.01347	4.99	5.57	5.57	0.84162	.	0.430257	0.24894	N	0.034741	T	0.02304	0.0071	L	0.47190	1.495	0.28137	N	0.92995	B	0.30406	0.278	B	0.24155	0.051	T	0.37267	-0.9713	10	0.45353	T	0.12	.	18.5351	0.91008	0.0:1.0:0.0:0.0	.	822	Q8IY92	SLX4_HUMAN	I	822	ENSP00000294008:M822I	ENSP00000294008:M822I	M	-	3	0	SLX4	3581174	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	3.184000	0.50926	2.619000	0.88677	0.561000	0.74099	ATG		0.468	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		G	3641173	C	G	3641173	3	3	251	1	0	0	0	0	1	0	0	0	1542	478	17	4	3054	4	BTBD12	16	3641173	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08		3641173	86713580	38	15159											
SRCAP	10847	hgsc.bcm.edu	37	16	30732089	30732089	+	Missense_Mutation	SNP	C	C	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr16:30732089C>A	ENST00000262518.4	+	20	3428	c.3043C>A	c.(3043-3045)Cca>Aca	p.P1015T	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1015T|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1015T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1015	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGTGAACAACCCACGGGCGCC	0.602																																																0													65	74	71					16																	30732089		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3043C>A	chr16.hg19:g.30732089C>A	ENSP00000262518:p.Pro1015Thr		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724931	0.48833	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91631	-2.88;-2.81;-2.85	5.25	5.25	0.73442	.	0.000000	0.50627	D	0.000110	D	0.90219	0.6942	N	0.14661	0.345	0.41912	D	0.990471	D;D;D	0.76494	0.999;0.999;0.997	D;D;P	0.67382	0.934;0.951;0.895	D	0.87595	0.2493	10	0.25106	T	0.35	-10.7491	11.2203	0.48851	0.0:0.9156:0.0:0.0844	.	1015;1015;1015	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	T	1015	ENSP00000262518:P1015T;ENSP00000378499:P1015T;ENSP00000343042:P1015T	ENSP00000262518:P1015T	P	+	1	0	SRCAP	30639590	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.640000	0.61368	2.729000	0.93468	0.557000	0.71058	CCA		0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		A	30732089	C	A	30732089	3	1	251	1	0	0	0	0	1	0	0	0	15140	623	22	4	3113	4	SRCAP	16	30732089	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08	27090916	30732089	59622664	39	15160											
ZZEF1	23140	hgsc.bcm.edu	37	17	3953114	3953114	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:3953114C>T	ENST00000381638.2	-	37	6027	c.5903G>A	c.(5902-5904)gGg>gAg	p.G1968E		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1968							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTCGAGTCCCCATCTGGCAA	0.498																																																0													97	92	94					17																	3953114		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5903G>A	chr17.hg19:g.3953114C>T	ENSP00000371051:p.Gly1968Glu		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	hg19	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222545	0.58668	.	.	ENSG00000074755	ENST00000381638	T	0.20881	2.04	5.33	4.35	0.52113	.	0.334072	0.36555	N	0.002540	T	0.21427	0.0516	N	0.19112	0.55	0.40921	D	0.984313	D;D	0.59767	0.962;0.986	P;P	0.54174	0.744;0.738	T	0.00888	-1.1526	10	0.49607	T	0.09	-17.7018	10.7443	0.46170	0.0:0.9108:0.0:0.0892	.	1968;1968	O43149-2;O43149	.;ZZEF1_HUMAN	E	1968	ENSP00000371051:G1968E	ENSP00000371051:G1968E	G	-	2	0	ZZEF1	3899863	0.864000	0.29904	0.970000	0.41538	0.425000	0.31504	1.732000	0.38146	2.672000	0.90937	0.508000	0.49915	GGG		0.498	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		T	3953114	C	T	3953114	3	4	251	1	0	0	0	0	1	0	0	0	18260	623	22	2	3058	2	ZZEF1	17	3953114	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08		3953114	77242096	40	15161											
QRICH2	84074	hgsc.bcm.edu	37	17	74283337	74283337	+	Missense_Mutation	SNP	T	T	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:74283337T>A	ENST00000262765.5	-	7	3628	c.3449A>T	c.(3448-3450)cAa>cTa	p.Q1150L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1150										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCCCCTGTCTTGGCTCTCCCT	0.567																																																0													128	104	112					17																	74283337		2203	4300	6503	SO:0001583	missense	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3449A>T	chr17.hg19:g.74283337T>A	ENSP00000262765:p.Gln1150Leu		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	hg19	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420700	0.83559	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.63580	1.79;-0.05	4.89	4.89	0.63831	.	.	.	.	.	T	0.67906	0.2943	L	0.34521	1.04	0.32374	N	0.555436	D;D	0.71674	0.998;0.998	D;D	0.66351	0.943;0.943	T	0.73704	-0.3899	9	0.52906	T	0.07	-7.7869	12.7966	0.57562	0.0:0.0:0.0:1.0	.	1150;1150	B5MD94;Q9H0J4	.;QRIC2_HUMAN	L	1150;158;1150	ENSP00000262765:Q1150L;ENSP00000394461:Q158L	ENSP00000262765:Q1150L	Q	-	2	0	QRICH2	71794932	1.000000	0.71417	0.985000	0.45067	0.931000	0.56810	4.519000	0.60517	1.836000	0.53414	0.454000	0.30748	CAA		0.567	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		A	74283337	T	A	74283337	3	1	251	1	0	0	0	0	1	0	0	0	12886	1812	63	5	1594	5	QRICH2	17	74283337	Missense_Mutation	SNP	T	TCGA-B3-3925-01A-01D-1458-08	70330223	74283337	6911873	41	15162											
TBCD	6904	hgsc.bcm.edu	37	17	80888515	80888515	+	Missense_Mutation	SNP	G	G	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:80888515G>C	ENST00000355528.4	+	33	3239	c.3109G>C	c.(3109-3111)Gag>Cag	p.E1037Q	TBCD_ENST00000539345.2_Missense_Mutation_p.E1037Q	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	1037					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCTTCTGAATGAGAGGTGAGT	0.597																																																0													92	89	90					17																	80888515		2024	4185	6209	SO:0001583	missense	6904			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.3109G>C	chr17.hg19:g.80888515G>C	ENSP00000347719:p.Glu1037Gln		O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	hg19	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751852	0.31046	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000539345	T	0.35236	1.32	4.63	2.48	0.30137	Armadillo-like helical (1);Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	0.128907	0.50627	D	0.000107	T	0.27731	0.0682	L	0.42245	1.32	0.80722	D	1	P;P;P	0.41313	0.745;0.601;0.709	B;B;B	0.41946	0.27;0.307;0.371	T	0.02632	-1.1131	9	.	.	.	.	5.3369	0.15963	0.113:0.2093:0.6777:0.0	.	814;1037;1037	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	Q	1037;788;29	ENSP00000347719:E1037Q	.	E	+	1	0	TBCD	78481804	1.000000	0.71417	0.852000	0.33557	0.360000	0.29518	3.799000	0.55529	0.939000	0.37446	0.591000	0.81541	GAG		0.597	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		C	80888515	G	C	80888515	3	2	251	1	0	0	0	0	1	0	0	0	15638	1291	45	4	3239	4	TBCD	17	80888515	Missense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08	6605178	80888515	306695	42	15163											
HDHD2	84064	hgsc.bcm.edu	37	18	44662721	44662721	+	Silent	SNP	T	T	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr18:44662721T>C	ENST00000300605.6	-	2	242	c.90A>G	c.(88-90)gaA>gaG	p.E30E	HDHD2_ENST00000587841.1_Intron|IER3IP1_ENST00000588705.1_3'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	30						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TTTTAAGAGCTTCCTGTGCGC	0.463																																																0													99	82	88					18																	44662721		2203	4300	6503	SO:0001819	synonymous_variant	84064			AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.90A>G	chr18.hg19:g.44662721T>C			A8K7T3|Q96NV4	Silent	SNP	ENST00000300605.6	hg19	CCDS32829.1																																																																																				0.463	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		C	44662721	T	C	44662721	2	2	251	1	0	0	0	0	0	0	0	1	7025	1606	56	3		3	HDHD2	18	44662721	Silent	SNP	T	TCGA-B3-3925-01A-01D-1458-08		44662721	33414527	43	15164											
MYO5B	4645	hgsc.bcm.edu	37	18	47500737	47500737	+	Silent	SNP	C	C	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr18:47500737C>T	ENST00000285039.7	-	10	1604	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	435	Myosin motor.		G -> R (in DIAR2). {ECO:0000269|PubMed:20186687}.		endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGTCCAGGACCCCGATGAAGG	0.582																																																0													98	108	104					18																	47500737		2136	4239	6375	SO:0001819	synonymous_variant	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1305G>A	chr18.hg19:g.47500737C>T			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	hg19	CCDS42436.1																																																																																				0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47500737	C	T	47500737	2	4	251	1	0	0	0	0	0	0	0	1	10081	610	22	2		2	MYO5B	18	47500737	Silent	SNP	C	TCGA-B3-3925-01A-01D-1458-08	2838016	47500737	30576511	44	15165											
RAB27B	5874	hgsc.bcm.edu	37	18	52555227	52555230	+	Splice_Site	DEL	CCAA	CCAA	-			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	CCAA	CCAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr18:52555227_52555230delCCAA	ENST00000262094.5	+	5	866_869	c.345_348delCCAA	c.(343-348)agccaa>ag	p.SQ115fs	RAB27B_ENST00000586594.1_3'UTR|RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	115					multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|multivesicular body membrane (GO:0032585)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein domain specific binding (GO:0019904)			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTTTTCAAGGCCAACTGCAAGCAA	0.402																																																0																																										SO:0001630	splice_region_variant	5874			U57093	CCDS11958.1	18q21.2	2006-12-18			ENSG00000041353	ENSG00000041353		"RAB, member RAS oncogene"	9767	protein-coding gene	gene with protein product		603869				9066979	Standard	NM_004163		Approved		uc002lfr.3	O00194	OTTHUMG00000132710	ENST00000262094.5:c.344-1CCAA>-	chr18.hg19:g.52555227_52555230delCCAA			B2RAB0|Q9BZB6	Frame_Shift_Del	DEL	ENST00000262094.5	hg19	CCDS11958.1																																																																																				0.402	RAB27B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256008.3	NM_004163	Frame_Shift_Del	-	52555230	CCAA	-	52555227	8	5	251	1	0	1	0	1	0	0	1	0	12921	753	26	0	359	0	RAB27B	18	52555227	Splice_Site	DEL	CCAA	TCGA-B3-3925-01A-01D-1458-08	5054490	52555227	25522021	45	15166											
RFX2	5990	hgsc.bcm.edu	37	19	6013026	6013026	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:6013026C>T	ENST00000303657.5	-	8	1019	c.870G>A	c.(868-870)atG>atA	p.M290I	RFX2_ENST00000359161.3_Missense_Mutation_p.M290I|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.M265I	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	290					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						GCTGCTGCCGCATGGCCATGT	0.617																																					Colon(38;171 817 19800 47433 48051)											0													104	104	104					19																	6013026		2203	4300	6503	SO:0001583	missense	5990				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.870G>A	chr19.hg19:g.6013026C>T	ENSP00000306335:p.Met290Ile		A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	hg19	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414320	0.62511	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.65364	-0.15	4.99	4.99	0.66335	.	0.038993	0.85682	D	0.000000	T	0.57359	0.2048	L	0.60845	1.875	0.80722	D	1	B;B	0.13594	0.008;0.005	B;B	0.17722	0.019;0.013	T	0.57341	-0.7828	10	0.51188	T	0.08	-34.5934	10.8416	0.46720	0.0:0.9125:0.0:0.0875	.	265;290	P48378-2;P48378	.;RFX2_HUMAN	I	290;265;77	ENSP00000306335:M290I	ENSP00000306335:M290I	M	-	3	0	RFX2	5964026	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.796000	0.62496	2.473000	0.83533	0.557000	0.71058	ATG		0.617	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		T	6013026	C	T	6013026	3	4	251	1	0	0	0	0	1	0	0	0	13269	710	25	2	1345	2	RFX2	19	6013026	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08		6013026	53115957	46	15167											
GIPR	2696	hgsc.bcm.edu	37	19	46184876	46184876	+	Missense_Mutation	SNP	C	C	G	rs529800464		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:46184876C>G	ENST00000590918.1	+	13	1266	c.1167C>G	c.(1165-1167)agC>agG	p.S389R	GIPR_ENST00000263281.3_Missense_Mutation_p.S389R|GIPR_ENST00000304207.8_Missense_Mutation_p.S353R	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	389					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TCCTGGTCAGCGTCCTCTACT	0.677																																																0													35	40	38					19																	46184876		2203	4300	6503	SO:0001583	missense	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.1167C>G	chr19.hg19:g.46184876C>G	ENSP00000467494:p.Ser389Arg		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	hg19	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160957	0.78226	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.58940	0.3;1.18	4.81	2.65	0.31530	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.209202	0.33959	N	0.004388	T	0.68842	0.3045	M	0.65677	2.01	0.35843	D	0.826177	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73380	0.98;0.953;0.971	T	0.73898	-0.3837	10	0.87932	D	0	.	7.5841	0.27982	0.0:0.8105:0.0:0.1895	.	353;389;389	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	R	389;353	ENSP00000263281:S389R;ENSP00000305321:S353R	ENSP00000263281:S389R	S	+	3	2	GIPR	50876716	0.911000	0.30947	0.991000	0.47740	0.988000	0.76386	0.947000	0.29082	0.609000	0.30018	0.561000	0.74099	AGC		0.677	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			G	46184876	C	G	46184876	3	3	251	1	0	0	0	0	1	0	0	0	6397	767	27	4	1213	4	GIPR	19	46184876	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08	40171850	46184876	12944107	47	15168											
SIGLEC9	27180	hgsc.bcm.edu	37	19	51633170	51633170	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:51633170C>G	ENST00000250360.3	+	7	1293	c.1226C>G	c.(1225-1227)gCa>gGa	p.A409G	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	409					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAACCTTGGGCAGAAGACAGT	0.602																																																0													72	77	75					19																	51633170		2203	4300	6503	SO:0001583	missense	27180			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1226C>G	chr19.hg19:g.51633170C>G	ENSP00000250360:p.Ala409Gly		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	hg19	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	2.098	-0.406818	0.04832	.	.	ENSG00000129450	ENST00000250360	T	0.11277	2.79	1.96	-1.87	0.07737	.	.	.	.	.	T	0.08403	0.0209	M	0.63843	1.955	0.09310	N	1	P	0.35174	0.488	B	0.32211	0.142	T	0.31916	-0.9926	9	0.22109	T	0.4	.	2.1117	0.03704	0.2511:0.4132:0.0:0.3357	.	409	Q9Y336	SIGL9_HUMAN	G	409	ENSP00000250360:A409G	ENSP00000250360:A409G	A	+	2	0	SIGLEC9	56324982	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.824000	0.01708	-0.341000	0.08376	-0.346000	0.07831	GCA		0.602	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		G	51633170	C	G	51633170	3	3	251	1	0	0	0	0	1	0	0	0	14321	710	25	4	1252	4	SIGLEC9	19	51633170	Missense_Mutation	SNP	C	TCGA-B3-3925-01A-01D-1458-08	5448294	51633170	7495813	48	15169											
CD40	958	hgsc.bcm.edu	37	20	44757638	44757638	+	Missense_Mutation	SNP	G	G	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr20:44757638G>C	ENST00000372285.3	+	9	865	c.793G>C	c.(793-795)Gat>Cat	p.D265H	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	265					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				CACCCAGGAGGATGGCAAAGA	0.582									Immune Deficiency with Hyper-IgM																																							0													94	86	89					20																	44757638		2203	4300	6503	SO:0001583	missense	958	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"Tumor necrosis factor receptor superfamily", "CD molecules"	11919	protein-coding gene	gene with protein product		109535	"tumor necrosis factor receptor superfamily, member 5"	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.793G>C	chr20.hg19:g.44757638G>C	ENSP00000361359:p.Asp265His		E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	hg19	CCDS13393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.14|19.14	3.769455|3.769455	0.69992|0.69992	.|.	.|.	ENSG00000101017|ENSG00000101017	ENST00000372285|ENST00000372278	T|.	0.75050|.	-0.9|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	2.083250|.	0.02069|.	N|.	0.051393|.	T|T	0.72078|0.72078	0.3416|0.3416	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.75792|0.75792	-0.3193|-0.3193	10|6	0.48119|0.87932	T|D	0.1|0	-17.99|-17.99	14.7536|14.7536	0.69546|0.69546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	265|.	P25942|.	TNR5_HUMAN|.	H|S	265|214	ENSP00000361359:D265H|.	ENSP00000361359:D265H|ENSP00000361352:R214S	D|R	+|+	1|3	0|2	CD40|CD40	44191045|44191045	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.759000|0.759000	0.43091|0.43091	5.327000|5.327000	0.65881|0.65881	2.375000|2.375000	0.81037|0.81037	0.491000|0.491000	0.48974|0.48974	GAT|AGG		0.582	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		C	44757638	G	C	44757638	3	2	251	1	0	0	0	0	1	0	0	0	3017	1174	41	4	827	4	CD40	20	44757638	Missense_Mutation	SNP	G	TCGA-B3-3925-01A-01D-1458-08		44757638	18267882	49	15170											
ZNFX1	57169	hgsc.bcm.edu	37	20	47887763	47887763	+	Missense_Mutation	SNP	T	T	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr20:47887763T>C	ENST00000396105.1	-	3	832	c.586A>G	c.(586-588)Agc>Ggc	p.S196G	ZNFX1_ENST00000371754.4_Missense_Mutation_p.S196G|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S196G	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	196							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTTTGGAGCTACAAGCCTTC	0.448																																																0													122	125	124					20																	47887763		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.586A>G	chr20.hg19:g.47887763T>C	ENSP00000379412:p.Ser196Gly		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	hg19	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	9.975	1.226419	0.22542	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744	D;D;D;T	0.86865	-1.89;-2.18;-2.18;-0.82	5.86	5.86	0.93980	.	0.260907	0.49916	D	0.000128	T	0.81564	0.4849	L	0.45581	1.43	0.25150	N	0.990437	B	0.13145	0.007	B	0.10450	0.005	T	0.66590	-0.5885	10	0.21540	T	0.41	-21.586	10.261	0.43427	0.0:0.0774:0.0:0.9226	.	196	Q9P2E3	ZNFX1_HUMAN	G	196	ENSP00000360819:S196G;ENSP00000360817:S196G;ENSP00000379412:S196G;ENSP00000360809:S196G	ENSP00000360809:S196G	S	-	1	0	ZNFX1	47321170	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.608000	0.36847	2.241000	0.73720	0.533000	0.62120	AGC		0.448	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		C	47887763	T	C	47887763	3	2	251	1	0	0	0	0	1	0	0	0	18210	1522	53	3	5218	3	ZNFX1	20	47887763	Missense_Mutation	SNP	T	TCGA-B3-3925-01A-01D-1458-08	3130125	47887763	15137757	50	15171											
GNAZ	2781	hgsc.bcm.edu	37	22	23438484	23438484	+	Missense_Mutation	SNP	A	A	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:23438484A>G	ENST00000248996.4	+	2	1268	c.602A>G	c.(601-603)gAc>gGc	p.D201G	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	201					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AAGATGGTGGACGTGGGGGGG	0.567																																																0													131	136	135					22																	23438484		2203	4300	6503	SO:0001583	missense	2781				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.602A>G	chr22.hg19:g.23438484A>G	ENSP00000248996:p.Asp201Gly		B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	hg19	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.367786	0.42003	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.95656	-3.77	4.7	2.53	0.30540	.	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	H	0.98577	4.27	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	D	0.92468	0.5983	10	0.87932	D	0	.	6.794	0.23715	0.7665:0.1527:0.0808:0.0	.	201	P19086	GNAZ_HUMAN	G	201;149	ENSP00000248996:D201G	ENSP00000248996:D201G	D	+	2	0	GNAZ	21768484	1.000000	0.71417	0.650000	0.29550	0.158000	0.22134	9.084000	0.94076	0.268000	0.21939	-0.313000	0.08912	GAC		0.567	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		G	23438484	A	G	23438484	3	3	251	1	0	0	0	0	1	0	0	0	6516	275	10	3	604	3	GNAZ	22	23438484	Missense_Mutation	SNP	A	TCGA-B3-3925-01A-01D-1458-08		23438484	27866082	51	15172											
CABIN1	23523	hgsc.bcm.edu	37	22	24447425	24447425	+	Silent	SNP	T	T	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:24447425T>A	ENST00000398319.2	+	8	1180	c.795T>A	c.(793-795)atT>atA	p.I265I	CABIN1_ENST00000263119.5_Silent_p.I265I|CABIN1_ENST00000405822.2_Intron	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	265					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCAGCCCATTCCTTTCTTCA	0.577																																																0													100	85	90					22																	24447425		2203	4300	6503	SO:0001819	synonymous_variant	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.795T>A	chr22.hg19:g.24447425T>A			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	hg19	CCDS13823.1																																																																																				0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24447425	T	A	24447425	2	1	251	1	0	0	0	0	0	0	0	1	2530	1771	62	5		5	CABIN1	22	24447425	Silent	SNP	T	TCGA-B3-3925-01A-01D-1458-08	1008941	24447425	26857141	52	15173											
DEPDC5	9681	hgsc.bcm.edu	37	22	32193641	32193641	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:32193641A>T	ENST00000382112.3	+	12	893	c.823A>T	c.(823-825)Aaa>Taa	p.K275*	DEPDC5_ENST00000400242.3_Nonsense_Mutation_p.K275*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.K275*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.K275*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.K275*|DEPDC5_ENST00000536766.1_Nonsense_Mutation_p.K247*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.K275*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.K275*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.K275*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.K275*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	275					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGTAACCATTAAAAAACTCTT	0.438																																																0													83	84	84					22																	32193641		1902	4127	6029	SO:0001587	stop_gained	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.823A>T	chr22.hg19:g.32193641A>T	ENSP00000371546:p.Lys275*		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	hg19	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	A	38	6.793795	0.97841	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9647	0.64202	1.0:0.0:0.0:0.0	.	.	.	.	X	275;247;275;275;275;275;275;275;275;275;275	.	ENSP00000266091:K275X	K	+	1	0	DEPDC5	30523641	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.097000	0.94193	1.921000	0.55644	0.443000	0.29094	AAA		0.438	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		T	32193641	A	T	32193641	4	4	251	1	0	0	0	0	0	1	0	0	4444	363	13	5	869	5	DEPDC5	22	32193641	Nonsense_Mutation	SNP	A	TCGA-B3-3925-01A-01D-1458-08	7746216	32193641	19110925	53	15174											
SOX10	6663	hgsc.bcm.edu	37	22	38374016	38374016	+	Silent	SNP	C	C	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:38374016C>T	ENST00000396884.2	-	3	837	c.555G>A	c.(553-555)caG>caA	p.Q185Q	SOX10_ENST00000470555.1_5'Flank|SOX10_ENST00000360880.2_Silent_p.Q185Q|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	185					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCGCCTCGCCCTGGGCGGCCT	0.682																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)											0													30	30	30					22																	38374016		2202	4300	6502	SO:0001819	synonymous_variant	6663				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.555G>A	chr22.hg19:g.38374016C>T			B4DV62|Q6FHW7	Silent	SNP	ENST00000396884.2	hg19	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	C	0.065	-1.215656	0.01542	.	.	ENSG00000100146	ENST00000446929	.	.	.	4.24	0.707	0.18139	.	.	.	.	.	T	0.50531	0.1621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34329	-0.9833	4	.	.	.	.	4.6565	0.12620	0.1228:0.6075:0.12:0.1497	.	.	.	.	K	62	.	.	R	-	2	0	SOX10	36703962	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	2.108000	0.41854	-0.014000	0.14175	-1.644000	0.00765	AGG		0.682	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		T	38374016	C	T	38374016	2	4	251	1	0	0	0	0	0	0	0	1	14947	680	24	2		2	SOX10	22	38374016	Silent	SNP	C	TCGA-B3-3925-01A-01D-1458-08	6180375	38374016	12930550	54	15175											
MXRA5	25878	hgsc.bcm.edu	37	X	3238719	3238719	+	Silent	SNP	A	A	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chrX:3238719A>G	ENST00000217939.6	-	5	5161	c.5007T>C	c.(5005-5007)agT>agC	p.S1669S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1669						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAATTGTTGTACTTGATAATC	0.438																																																0													171	162	165					X																	3238719		2203	4300	6503	SO:0001819	synonymous_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5007T>C	chrX.hg19:g.3238719A>G			Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	hg19	CCDS14124.1																																																																																				0.438	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		G	3238719	A	G	3238719	2	3	251	1	0	0	0	0	0	0	0	1	10005	388	14	3		3	MXRA5	23	3238719	Silent	SNP	A	TCGA-B3-3925-01A-01D-1458-08		3238719	152031841	55	15176											
CTPS2	56474	hgsc.bcm.edu	37	X	16685795	16685795	+	Silent	SNP	A	A	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chrX:16685795A>C	ENST00000443824.1	-	12	1985	c.1242T>G	c.(1240-1242)ctT>ctG	p.L414L	CTPS2_ENST00000380241.3_Silent_p.L414L|CTPS2_ENST00000359276.4_Silent_p.L414L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	414	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CTTTCAAGTTAAGGCAGTTTC	0.323																																																0													104	95	98					X																	16685795		2203	4300	6503	SO:0001819	synonymous_variant	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1242T>G	chrX.hg19:g.16685795A>C			B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	ENST00000443824.1	hg19	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	A	8.285	0.816447	0.16607	.	.	ENSG00000047230	ENST00000455276	.	.	.	5.47	-4.64	0.03349	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.44862	D	0.997874	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4425	9.4054	0.38457	0.1945:0.5966:0.0:0.2089	.	.	.	.	X	36	.	ENSP00000400431:L36X	L	-	2	0	CTPS2	16595716	0.000000	0.05858	0.699000	0.30290	0.941000	0.58515	-1.673000	0.01951	-0.843000	0.04189	0.486000	0.48141	TTA		0.323	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		C	16685795	A	C	16685795	2	2	251	1	0	0	0	0	0	0	0	1	4025	349	13	5		5	CTPS2	23	16685795	Silent	SNP	A	TCGA-B3-3925-01A-01D-1458-08	13447076	16685795	138584765	56	15177											
ALK	238	hgsc.bcm.edu	37	2	29432730	29432730	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-3926-01A-01D-1252-08	TCGA-B3-3926-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	814dbddd-9703-4c92-b179-428d00b907bf	cc643b5f-d509-4216-928c-5f6ec8b526e2	g.chr2:29432730C>G	ENST00000389048.3	-	25	4664	c.3758G>C	c.(3757-3759)aGa>aCa	p.R1253T	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GAGGCAGTTTCTGGCAGCAAT	0.493			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													105	107	106					2																	29432730		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3758G>C	chr2.hg19:g.29432730C>G	ENSP00000373700:p.Arg1253Thr		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	hg19	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983743	0.93044	.	.	ENSG00000171094	ENST00000389048	D	0.87571	-2.27	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000057	D	0.95468	0.8528	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96698	0.9516	9	.	.	.	.	17.5154	0.87771	0.0:1.0:0.0:0.0	.	1253	Q9UM73	ALK_HUMAN	T	1253	ENSP00000373700:R1253T	.	R	-	2	0	ALK	29286234	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.462000	0.80851	2.418000	0.82041	0.655000	0.94253	AGA		0.493	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		G	29432730	C	G	29432730	3	3	252	1	0	0	0	0	1	0	0	0	525	913	32	4	1124	4	ALK	2	29432730	Missense_Mutation	SNP	C	TCGA-B3-3926-01A-01D-1252-08		29432730	213766643	1	15178											
PLXND1	23129	hgsc.bcm.edu	37	3	129284750	129284750	+	Missense_Mutation	SNP	C	C	A			TCGA-B3-3926-01A-01D-1252-08	TCGA-B3-3926-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	814dbddd-9703-4c92-b179-428d00b907bf	cc643b5f-d509-4216-928c-5f6ec8b526e2	g.chr3:129284750C>A	ENST00000324093.4	-	24	4480	c.4302G>T	c.(4300-4302)aaG>aaT	p.K1434N	PLXND1_ENST00000393239.1_Missense_Mutation_p.K1434N	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1434					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCGCAAAGTCCTTCTGCTGCT	0.587																																					Ovarian(97;366 1484 3738 22084 39045)											0													107	90	96					3																	129284750		2203	4300	6503	SO:0001583	missense	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4302G>T	chr3.hg19:g.129284750C>A	ENSP00000317128:p.Lys1434Asn		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	hg19	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069256	0.55539	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.12879	2.64;2.64	4.86	2.99	0.34606	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.106561	0.64402	D	0.000006	T	0.28400	0.0702	L	0.59436	1.845	0.53005	D	0.999968	P;D	0.76494	0.643;0.999	B;D	0.71184	0.315;0.972	T	0.01448	-1.1352	10	0.87932	D	0	.	8.6019	0.33749	0.0:0.7443:0.0:0.2557	.	29;1434	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	N	1434	ENSP00000317128:K1434N;ENSP00000376931:K1434N	ENSP00000317128:K1434N	K	-	3	2	PLXND1	130767440	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.849000	0.27723	0.973000	0.38340	0.563000	0.77884	AAG		0.587	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		A	129284750	C	A	129284750	3	1	252	1	0	0	0	0	1	0	0	0	12129	680	24	4	1527	4	PLXND1	3	129284750	Missense_Mutation	SNP	C	TCGA-B3-3926-01A-01D-1252-08		129284750	68737680	2	15179											
RBAK	57786	hgsc.bcm.edu	37	7	5105227	5105227	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-3926-01A-01D-1252-08	TCGA-B3-3926-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	814dbddd-9703-4c92-b179-428d00b907bf	cc643b5f-d509-4216-928c-5f6ec8b526e2	g.chr7:5105227C>T	ENST00000353796.3	+	6	2464	c.2140C>T	c.(2140-2142)Ctc>Ttc	p.L714F	RBAK_ENST00000396912.1_Missense_Mutation_p.L714F|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	714	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L714I(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGTGGAAAATCTCTGAAGTCA	0.373																																																1	Substitution - Missense(1)	large_intestine(1)											38	41	40					7																	5105227		2116	4249	6365	SO:0001583	missense	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.2140C>T	chr7.hg19:g.5105227C>T	ENSP00000275423:p.Leu714Phe		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	hg19	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.428124	0.25726	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.07688	3.17;3.17	3.63	2.74	0.32292	.	0.328508	0.22348	N	0.061256	T	0.06188	0.0160	N	0.08118	0	0.30907	N	0.729093	P	0.51240	0.943	P	0.49799	0.622	T	0.35076	-0.9803	8	.	.	.	.	9.2279	0.37418	0.0:0.8873:0.0:0.1127	.	714	Q9NYW8	RBAK_HUMAN	F	714	ENSP00000275423:L714F;ENSP00000380120:L714F	.	L	+	1	0	RBAK	5071753	0.000000	0.05858	0.637000	0.29366	0.480000	0.33159	0.225000	0.17757	1.089000	0.41292	0.455000	0.32223	CTC		0.373	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		T	5105227	C	T	5105227	3	4	252	1	0	0	0	0	1	0	0	0	13106	913	32	2	2154	2	RBAK	7	5105227	Missense_Mutation	SNP	C	TCGA-B3-3926-01A-01D-1252-08		5105227	154033436	3	15180											
EPDR1	54749	hgsc.bcm.edu	37	7	37960767	37960767	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-3926-01A-01D-1252-08	TCGA-B3-3926-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	814dbddd-9703-4c92-b179-428d00b907bf	cc643b5f-d509-4216-928c-5f6ec8b526e2	g.chr7:37960767G>T	ENST00000199448.4	+	1	605	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L	EPDR1_ENST00000559325.1_Missense_Mutation_p.V196L|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_Missense_Mutation_p.V76L	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	76					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CAACCAGCGCGTGCGGGTGCT	0.706																																																0													15	16	16					7																	37960767		2107	4126	6233	SO:0001583	missense	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.226G>T	chr7.hg19:g.37960767G>T	ENSP00000199448:p.Val76Leu		A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	hg19	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733873	0.30684	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	4.04	1.93	0.25924	.	0.478080	0.21214	N	0.078255	T	0.40473	0.1118	L	0.42686	1.345	0.80722	D	1	B	0.16603	0.018	B	0.09377	0.004	T	0.14392	-1.0474	9	0.21014	T	0.42	-17.3655	3.9195	0.09237	0.2427:0.1958:0.5615:0.0	.	196	A4D1W8	.	L	196;170	.	ENSP00000199448:V196L	V	+	1	0	EPDR1	37927292	0.988000	0.35896	1.000000	0.80357	0.959000	0.62525	0.596000	0.24044	0.866000	0.35629	0.313000	0.20887	GTG		0.706	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		T	37960767	G	T	37960767	3	4	252	1	0	0	0	0	1	0	0	0	5165	1145	40	4	588	4	EPDR1	7	37960767	Missense_Mutation	SNP	G	TCGA-B3-3926-01A-01D-1252-08	32855540	37960767	121177896	4	15181											
SAV1	60485	hgsc.bcm.edu	37	14	51132122	51132129	+	Frame_Shift_Del	DEL	CTAGACTT	CTAGACTT	-			TCGA-B3-3926-01A-01D-1252-08	TCGA-B3-3926-11A-01D-1252-08	CTAGACTT	CTAGACTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	814dbddd-9703-4c92-b179-428d00b907bf	cc643b5f-d509-4216-928c-5f6ec8b526e2	g.chr14:51132122_51132129delCTAGACTT	ENST00000324679.4	-	2	666_673	c.303_310delAAGTCTAG	c.(301-312)agaagtctagcafs	p.RSLA101fs	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	101					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GGGACATCTGCTAGACTTCTGGCAAGAT	0.385																																																0																																										SO:0001589	frameshift_variant	60485			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"WW domain-containing adaptor 45"	607203	"salvador homolog 1 (Drosophila)"			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.303_310delAAGTCTAG	chr14.hg19:g.51132122_51132129delCTAGACTT	ENSP00000324729:p.Arg101fs		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Frame_Shift_Del	DEL	ENST00000324679.4	hg19	CCDS9701.1																																																																																				0.385	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			-	51132129	CTAGACTT	-	51132122	7	5	252	1	0	1	0	1	0	0	0	0	13862	797	28	0	857	0	SAV1	14	51132122	Frame_Shift_Del	DEL	CTAGACTT	TCGA-B3-3926-01A-01D-1252-08		51132122	56217418	5	15182											
MRC2	9902	hgsc.bcm.edu	37	17	60766323	60766323	+	Splice_Site	SNP	T	T	C			TCGA-B3-3926-01A-01D-1252-08	TCGA-B3-3926-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	814dbddd-9703-4c92-b179-428d00b907bf	cc643b5f-d509-4216-928c-5f6ec8b526e2	g.chr17:60766323T>C	ENST00000303375.5	+	23	3736		c.e23+2		MRC2_ENST00000580916.1_Splice_Site|MRC2_ENST00000446119.2_Splice_Site	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2						collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGGGCACGGGTATGTGTCACC	0.642																																																0													42	35	37					17																	60766323		2203	4300	6503	SO:0001630	splice_region_variant	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3334+2T>C	chr17.hg19:g.60766323T>C			A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Splice_Site	SNP	ENST00000303375.5	hg19	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155893	0.78114	.	.	ENSG00000011028	ENST00000303375;ENST00000446119	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3771	0.66886	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MRC2	58120055	1.000000	0.71417	0.863000	0.33907	0.565000	0.35776	5.032000	0.64140	1.978000	0.57642	0.459000	0.35465	.		0.642	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1		Intron	C	60766323	T	C	60766323	5	2	252	1	0	0	0	0	0	0	1	0	9760	1652	57	3	3426	3	MRC2	17	60766323	Splice_Site	SNP	T	TCGA-B3-3926-01A-01D-1252-08		60766323	20428887	6	15183											
ACSBG2	81616	hgsc.bcm.edu	37	19	6177264	6177264	+	Missense_Mutation	SNP	A	A	G			TCGA-B3-3926-01A-01D-1252-08	TCGA-B3-3926-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	814dbddd-9703-4c92-b179-428d00b907bf	cc643b5f-d509-4216-928c-5f6ec8b526e2	g.chr19:6177264A>G	ENST00000586696.1	+	8	1039	c.763A>G	c.(763-765)Aca>Gca	p.T255A	ACSBG2_ENST00000591403.1_Missense_Mutation_p.T255A|ACSBG2_ENST00000252669.5_Missense_Mutation_p.T255A|ACSBG2_ENST00000588485.1_Missense_Mutation_p.T68A|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Missense_Mutation_p.T205A			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	255					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.T255A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGAGCAGTGACAAAGGACTT	0.423																																																1	Substitution - Missense(1)	endometrium(1)											100	71	81					19																	6177264		2203	4300	6503	SO:0001583	missense	81616				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.763A>G	chr19.hg19:g.6177264A>G	ENSP00000465589:p.Thr255Ala		B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	hg19	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	A	0.181	-1.062649	0.01950	.	.	ENSG00000130377	ENST00000252669	T	0.39997	1.05	4.48	-5.64	0.02466	AMP-dependent synthetase/ligase (1);	1.364350	0.05348	N	0.531310	T	0.10937	0.0267	N	0.01640	-0.785	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25328	-1.0135	10	0.05351	T	0.99	-3.1473	3.0878	0.06284	0.1441:0.0988:0.3567:0.4004	.	255;255	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	A	255	ENSP00000252669:T255A	ENSP00000252669:T255A	T	+	1	0	ACSBG2	6128264	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.149000	0.16243	-0.740000	0.04803	-0.902000	0.02854	ACA		0.423	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		G	6177264	A	G	6177264	3	3	252	1	0	0	0	0	1	0	0	0	174	275	10	3	789	3	ACSBG2	19	6177264	Missense_Mutation	SNP	A	TCGA-B3-3926-01A-01D-1252-08		6177264	52951719	7	15184											
UBA52	7311	hgsc.bcm.edu	37	19	18685757	18685757	+	Missense_Mutation	SNP	A	A	T			TCGA-B3-3926-01A-01D-1252-08	TCGA-B3-3926-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	814dbddd-9703-4c92-b179-428d00b907bf	cc643b5f-d509-4216-928c-5f6ec8b526e2	g.chr19:18685757A>T	ENST00000442744.2	+	4	326	c.268A>T	c.(268-270)Aac>Tac	p.N90Y	UBA52_ENST00000598780.1_Missense_Mutation_p.N90Y|UBA52_ENST00000595683.1_Missense_Mutation_p.N90Y|UBA52_ENST00000599595.1_Missense_Mutation_p.N90Y|UBA52_ENST00000596304.1_Missense_Mutation_p.N90Y|UBA52_ENST00000430157.2_Missense_Mutation_p.N90Y|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000595158.1_Missense_Mutation_p.N90Y|UBA52_ENST00000596273.1_Missense_Mutation_p.N90Y|UBA52_ENST00000599551.1_Missense_Mutation_p.N90Y|UBA52_ENST00000597451.1_Missense_Mutation_p.N90Y	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	90					activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						CCAGAAATACAACTGCGACAA	0.612																																																0													46	42	43					19																	18685757		2203	4300	6503	SO:0001583	missense	7311				CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"L ribosomal proteins"	12458	protein-coding gene	gene with protein product	"ribosomal protein L40", "ubiquitin-52 amino acid fusion protein", "ubiquitin carboxyl extension protein 52", "60S ribosomal protein L40", "ubiquitin-CEP52"	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.268A>T	chr19.hg19:g.18685757A>T	ENSP00000388107:p.Asn90Tyr		P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000442744.2	hg19	CCDS12382.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273436	0.80580	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.45668	0.89;0.89	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.93197	3.39	0.58432	D	0.99999	D	0.59767	0.986	P	0.59424	0.857	T	0.76822	-0.2817	10	0.87932	D	0	-2.438	11.7658	0.51930	1.0:0.0:0.0:0.0	.	90	P62987	RL40_HUMAN	Y	90	ENSP00000388107:N90Y;ENSP00000396910:N90Y	ENSP00000396910:N90Y	N	+	1	0	UBA52	18546757	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.564000	0.60830	1.667000	0.50832	0.379000	0.24179	AAC		0.612	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2	NM_003333		T	18685757	A	T	18685757	3	4	252	1	0	0	0	0	1	0	0	0	16836	130	5	5	278	5	UBA52	19	18685757	Missense_Mutation	SNP	A	TCGA-B3-3926-01A-01D-1252-08	12508493	18685757	40443226	8	15185											
ATP1A1	476	hgsc.bcm.edu	37	1	116941400	116941400	+	Missense_Mutation	SNP	G	G	C	rs11540954		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:116941400G>C	ENST00000295598.5	+	16	2534	c.2282G>C	c.(2281-2283)gGa>gCa	p.G761A	ATP1A1_ENST00000369496.4_Missense_Mutation_p.G730A|ATP1A1_ENST00000537345.1_Missense_Mutation_p.G761A	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	761					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	ATTGTGACTGGAGTAGAGGAA	0.438																																																0													138	136	136					1																	116941400		2203	4300	6503	SO:0001583	missense	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2282G>C	chr1.hg19:g.116941400G>C	ENSP00000295598:p.Gly761Ala		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	hg19	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988230	0.93106	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000369496	D;D;D	0.91577	-2.87;-2.87;-2.86	5.23	5.23	0.72850	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.88937	0.6573	N	0.11106	0.095	0.80722	D	1	D;D	0.65815	0.995;0.992	D;D	0.70227	0.968;0.929	D	0.91640	0.5326	10	0.66056	D	0.02	.	19.0012	0.92834	0.0:0.0:1.0:0.0	rs11540954	761;761	F5H3A1;P05023	.;AT1A1_HUMAN	A	761;761;730	ENSP00000295598:G761A;ENSP00000445306:G761A;ENSP00000358508:G730A	ENSP00000295598:G761A	G	+	2	0	ATP1A1	116742923	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.657000	0.98554	2.718000	0.92993	0.655000	0.94253	GGA		0.438	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		C	116941400	G	C	116941400	3	2	253	1	0	0	0	0	1	0	0	0	1128	1174	41	4	2360	4	ATP1A1	1	116941400	Missense_Mutation	SNP	G	TCGA-B3-4103-01A-01D-1458-08		116941400	132309221	1	15186											
ATP1B1	481	hgsc.bcm.edu	37	1	169096584	169096584	+	Missense_Mutation	SNP	T	T	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:169096584T>C	ENST00000367816.1	+	5	1034	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	ATP1B1_ENST00000367815.4_Missense_Mutation_p.Y169H|ATP1B1_ENST00000367813.3_Missense_Mutation_p.Y161H|ATP1B1_ENST00000499679.3_Missense_Mutation_p.Y113H			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	169					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AACTTATGGCTACAAAGAGGG	0.388																																																0													104	101	102					1																	169096584		2203	4300	6503	SO:0001583	missense	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.505T>C	chr1.hg19:g.169096584T>C	ENSP00000356790:p.Tyr169His		Q5TGZ3	Missense_Mutation	SNP	ENST00000367816.1	hg19	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.574319	0.86542	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	6.02	6.02	0.97574	.	0.049448	0.85682	D	0.000000	T	0.72087	0.3417	M	0.92738	3.34	0.42584	D	0.993227	D	0.76494	0.999	D	0.76071	0.987	T	0.80130	-0.1511	9	0.87932	D	0	-19.3541	16.5446	0.84426	0.0:0.0:0.0:1.0	.	169	P05026	AT1B1_HUMAN	H	169;169;113;161	ENSP00000356790:Y169H;ENSP00000356789:Y169H;ENSP00000423450:Y113H;ENSP00000356787:Y161H	ENSP00000356787:Y161H	Y	+	1	0	ATP1B1	167363208	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.388000	0.79795	2.311000	0.77944	0.533000	0.62120	TAC		0.388	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			C	169096584	T	C	169096584	3	2	253	1	0	0	0	0	1	0	0	0	1132	1522	53	3	519	3	ATP1B1	1	169096584	Missense_Mutation	SNP	T	TCGA-B3-4103-01A-01D-1458-08	52155184	169096584	80154037	2	15187											
SELE	6401	hgsc.bcm.edu	37	1	169698749	169698749	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:169698749delT	ENST00000333360.7	-	6	920	c.781delA	c.(781-783)agcfs	p.S261fs	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Frame_Shift_Del_p.S199fs|SELE_ENST00000367779.4_Frame_Shift_Del_p.S261fs|SELE_ENST00000367780.4_Frame_Shift_Del_p.S199fs|SELE_ENST00000367782.4_Frame_Shift_Del_p.S261fs|SELE_ENST00000367774.1_Frame_Shift_Del_p.S261fs|SELE_ENST00000367777.1_Frame_Shift_Del_p.S261fs|SELE_ENST00000367776.1_Frame_Shift_Del_p.S261fs|SELE_ENST00000367781.4_Frame_Shift_Del_p.S261fs	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	261	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.S261G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	CATGGGAAGCTTCCAGGGTTT	0.448																																																1	Substitution - Missense(1)	lung(1)											137	130	132					1																	169698749		2203	4300	6503	SO:0001589	frameshift_variant	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.781delA	chr1.hg19:g.169698749delT	ENSP00000331736:p.Ser261fs		A2RRD6|P16111	Frame_Shift_Del	DEL	ENST00000333360.7	hg19	CCDS1283.1																																																																																				0.448	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		-	169698749	T	-	169698749	7	5	253	1	0	1	0	1	0	0	0	0	14019	1609	56	0	1083	0	SELE	1	169698749	Frame_Shift_Del	DEL	T	TCGA-B3-4103-01A-01D-1458-08	602165	169698749	79551872	3	15188											
CEP350	9857	hgsc.bcm.edu	37	1	179965912	179965912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:179965912delA	ENST00000367607.3	+	6	1038	c.620delA	c.(619-621)caafs	p.Q207fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	207					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATGCATTGCAAAATTCTGAA	0.378																																																0													78	73	75					1																	179965912		2203	4300	6503	SO:0001589	frameshift_variant	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.620delA	chr1.hg19:g.179965912delA	ENSP00000356579:p.Gln207fs		O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	ENST00000367607.3	hg19	CCDS1336.1																																																																																				0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		-	179965912	A	-	179965912	7	5	253	1	0	1	0	1	0	0	0	0	3256	130	5	0	638	0	CEP350	1	179965912	Frame_Shift_Del	DEL	A	TCGA-B3-4103-01A-01D-1458-08	10267163	179965912	69284709	4	15189											
GOLT1A	127845	hgsc.bcm.edu	37	1	204183026	204183026	+	Silent	SNP	G	G	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:204183026G>T	ENST00000308302.3	-	1	194	c.9C>A	c.(7-9)tcC>tcA	p.S3S		NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			ATTCGGTGATGGAGATCATGC	0.642																																																0													68	53	58					1																	204183026		2203	4300	6503	SO:0001819	synonymous_variant	127845			BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.9C>A	chr1.hg19:g.204183026G>T				Silent	SNP	ENST00000308302.3	hg19	CCDS1443.1																																																																																				0.642	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		T	204183026	G	T	204183026	2	4	253	1	0	0	0	0	0	0	0	1	6572	1335	47	4		4	GOLT1A	1	204183026	Silent	SNP	G	TCGA-B3-4103-01A-01D-1458-08	24217114	204183026	45067595	5	15190											
GRHL1	29841	hgsc.bcm.edu	37	2	10101557	10101557	+	Missense_Mutation	SNP	G	G	A	rs140278187		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:10101557G>A	ENST00000324907.9	+	4	797	c.661G>A	c.(661-663)Gtt>Att	p.V221I	GRHL1_ENST00000405379.2_Missense_Mutation_p.V221I|GRHL1_ENST00000324883.5_Silent_p.A57A	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	221					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CAAGGAAGGCGTTCAGGAGGT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19940	0.0		0.001	False		,,,				2504	0.0															0								G	ILE/VAL	0,4406		0,0,2203	77	76	76		661	4.6	1	2	dbSNP_134	76	6,8594	5.0+/-18.6	0,6,4294	yes	missense	GRHL1	NM_198182.2	29	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign	221/619	10101557	6,13000	2203	4300	6503	SO:0001583	missense	29841			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.661G>A	chr2.hg19:g.10101557G>A	ENSP00000324693:p.Val221Ile		A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	hg19	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248540	0.39797	0.0	6.98E-4	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.11604	2.76;2.76	5.5	4.63	0.57726	.	0.205183	0.45361	D	0.000378	T	0.07369	0.0186	N	0.08118	0	0.80722	D	1	P	0.39520	0.676	B	0.41666	0.363	T	0.47394	-0.9121	10	0.23302	T	0.38	.	14.5094	0.67774	0.0707:0.0:0.9293:0.0	.	221	Q9NZI5	GRHL1_HUMAN	I	221	ENSP00000384209:V221I;ENSP00000324693:V221I	ENSP00000324693:V221I	V	+	1	0	GRHL1	10019008	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.852000	0.55934	1.337000	0.45525	-0.244000	0.11960	GTT		0.463	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		A	10101557	G	A	10101557	3	1	253	1	0	0	0	0	1	0	0	0	6765	1145	40	1	675	1	GRHL1	2	10101557	Missense_Mutation	SNP	G	TCGA-B3-4103-01A-01D-1458-08		10101557	233097816	6	15191											
TMEM37	6344	hgsc.bcm.edu	37	2	120194829	120194829	+	IGR	SNP	T	T	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:120194829T>C	ENST00000019103.5	-	0	1865				TMEM37_ENST00000409826.1_Missense_Mutation_p.I141T|TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Missense_Mutation_p.I129T	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	ATGGGTTCCATCCTCCTCCTG	0.567																																																0													178	170	172					2																	120194829		2203	4300	6503	SO:0001628	intergenic_variant	140738				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		chr2.hg19:g.120194829T>C			Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	hg19	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	T	0.231	-1.020958	0.02061	.	.	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.97	-0.356	0.12583	.	1.570890	0.03832	N	0.269166	T	0.20129	0.0484	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.11542	-1.0583	9	0.28530	T	0.3	-15.3671	1.4103	0.02290	0.1454:0.1645:0.1419:0.5481	.	129	Q8WXS4	CCGL_HUMAN	T	141;129	.	ENSP00000303148:I129T	I	+	2	0	TMEM37	119911299	0.156000	0.22821	0.071000	0.20095	0.017000	0.09413	0.523000	0.22925	-0.194000	0.10399	0.533000	0.62120	ATC		0.567	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			C	120194829	T	C	120194829	1	2	253	0	1	0	0	0	0	0	0	0	16163	1435	50	3		3	TMEM37	2	120194829	IGR	SNP	T	TCGA-B3-4103-01A-01D-1458-08	110093272	120194829	123004544	7	15192											
KCNH7	90134	hgsc.bcm.edu	37	2	163241347	163241347	+	Missense_Mutation	SNP	A	A	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:163241347A>G	ENST00000332142.5	-	13	2912	c.2813T>C	c.(2812-2814)aTc>aCc	p.I938T		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	938					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AATGGAGGAGATGAAAGATGA	0.408																																					GBM(196;1492 2208 17507 24132 45496)											0													242	233	236					2																	163241347		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2813T>C	chr2.hg19:g.163241347A>G	ENSP00000331727:p.Ile938Thr		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	hg19	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	8.070	0.770061	0.15983	.	.	ENSG00000184611	ENST00000332142	D	0.98474	-4.95	5.6	4.45	0.53987	.	0.526834	0.21408	N	0.075025	D	0.92446	0.7602	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.88732	0.3237	10	0.10636	T	0.68	.	9.6489	0.39886	0.9219:0.0:0.0781:0.0	.	938	Q9NS40	KCNH7_HUMAN	T	938	ENSP00000331727:I938T	ENSP00000331727:I938T	I	-	2	0	KCNH7	162949593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.587000	0.53957	2.141000	0.66446	0.533000	0.62120	ATC		0.408	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		G	163241347	A	G	163241347	3	3	253	1	0	0	0	0	1	0	0	0	8039	333	12	3	793	3	KCNH7	2	163241347	Missense_Mutation	SNP	A	TCGA-B3-4103-01A-01D-1458-08	43046518	163241347	79958026	8	15193											
ITGB5	3693	hgsc.bcm.edu	37	3	124515613	124515614	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:124515613_124515614CC>AT	ENST00000296181.4	-	10	1610_1611	c.1314_1315GG>AT	c.(1312-1317)acGGag>acATag	p.E439*		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	439					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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AACACATGCTCCGTGTGTCTGC	0.609																																																0																																										SO:0001587	stop_gained	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1314_1315delinsAT	chr3.hg19:g.124515613_124515614delinsAT	ENSP00000296181:p.Glu439*		B0LPF8|B2RD70	Nonsense_Mutation|Silent	SNP	ENST00000296181.4	hg19	CCDS3030.1																																																																																				0.609	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		AT	124515614	CC	AT	124515613	4	1	253	1	0	0	0	0	0	1	0	0	7900	864	30	4	1108	4	ITGB5	3	124515613	Nonsense_Mutation	DNP	CC	TCGA-B3-4103-01A-01D-1458-08		124515613	73506817	9	15194											
PCYT1A	5130	hgsc.bcm.edu	37	3	195974373	195974373	+	Silent	SNP	G	G	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:195974373G>A	ENST00000292823.2	-	6	523	c.351C>T	c.(349-351)ctC>ctT	p.L117L	PCYT1A_ENST00000431016.1_Silent_p.L117L|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_Silent_p.L117L	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	117					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	AGTTGTGTGTGAGCTCATCAC	0.527																																																0													171	138	149					3																	195974373		2203	4300	6503	SO:0001819	synonymous_variant	5130			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.351C>T	chr3.hg19:g.195974373G>A			A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	hg19	CCDS3315.1																																																																																				0.527	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		A	195974373	G	A	195974373	2	1	253	1	0	0	0	0	0	0	0	1	11612	1277	45	2		2	PCYT1A	3	195974373	Silent	SNP	G	TCGA-B3-4103-01A-01D-1458-08	71458760	195974373	2048057	10	15195											
LRRC33	375387	hgsc.bcm.edu	37	3	196387840	196387840	+	Silent	SNP	C	C	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:196387840C>T	ENST00000328557.4	+	3	1529	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	442					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CACTTTGTCCCCTGCCAGCTG	0.592																																																0													144	148	147					3																	196387840		2203	4300	6503	SO:0001819	synonymous_variant	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1326C>T	chr3.hg19:g.196387840C>T				Silent	SNP	ENST00000328557.4	hg19	CCDS3319.1																																																																																				0.592	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		T	196387840	C	T	196387840	2	4	253	1	0	0	0	0	0	0	0	1	8990	610	22	2		2	LRRC33	3	196387840	Silent	SNP	C	TCGA-B3-4103-01A-01D-1458-08	413467	196387840	1634590	11	15196											
CLOCK	9575	hgsc.bcm.edu	37	4	56301654	56301654	+	Silent	SNP	A	A	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:56301654A>T	ENST00000309964.4	-	22	2719	c.2469T>A	c.(2467-2469)tcT>tcA	p.S823S	CLOCK_ENST00000513440.1_Silent_p.S823S|CLOCK_ENST00000381322.1_Silent_p.S823S	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	823	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Poly-Gln.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GCTGTTGCTGAGACTGATGTT	0.527																																																0													273	230	244					4																	56301654		2203	4300	6503	SO:0001819	synonymous_variant	9575			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2469T>A	chr4.hg19:g.56301654A>T			A0AV01|A2I2N9|O14516|Q9UIT8	Silent	SNP	ENST00000309964.4	hg19	CCDS3500.1																																																																																				0.527	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		T	56301654	A	T	56301654	2	4	253	1	0	0	0	0	0	0	0	1	3551	291	11	5		5	CLOCK	4	56301654	Silent	SNP	A	TCGA-B3-4103-01A-01D-1458-08		56301654	134852622	12	15197											
UGT2B7	7364	hgsc.bcm.edu	37	4	69978199	69978199	+	Silent	SNP	A	A	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:69978199A>G	ENST00000305231.7	+	6	1381	c.1335A>G	c.(1333-1335)ttA>ttG	p.L445L	UGT2B7_ENST00000508661.1_3'UTR|UGT2B7_ENST00000509763.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	445					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TTATGAAATTATCAAGAATTC	0.393																																																0													66	70	69					4																	69978199		2203	4300	6503	SO:0001819	synonymous_variant	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1335A>G	chr4.hg19:g.69978199A>G			B2R810|Q6GTW0	Silent	SNP	ENST00000305231.7	hg19	CCDS3526.1																																																																																				0.393	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		G	69978199	A	G	69978199	2	3	253	1	0	0	0	0	0	0	0	1	16967	446	16	3		3	UGT2B7	4	69978199	Silent	SNP	A	TCGA-B3-4103-01A-01D-1458-08	13676545	69978199	121176077	13	15198											
ARHGAP24	83478	hgsc.bcm.edu	37	4	86921691	86921691	+	Missense_Mutation	SNP	A	A	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:86921691A>G	ENST00000395184.1	+	10	2529	c.2063A>G	c.(2062-2064)gAt>gGt	p.D688G	RP13-514E23.2_ENST00000610225.1_RNA|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.D593G|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.D595G	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	688					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGAACTGGATCAGGAGAGG	0.448																																																0													71	73	72					4																	86921691		2203	4300	6503	SO:0001583	missense	83478			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.2063A>G	chr4.hg19:g.86921691A>G	ENSP00000378611:p.Asp688Gly		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	hg19	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865537	0.91511	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	L	0.54323	1.7	0.80722	D	1	D;D;P	0.69078	0.959;0.997;0.877	P;P;B	0.60117	0.637;0.869;0.339	T	0.60439	-0.7263	10	0.87932	D	0	.	16.002	0.80301	1.0:0.0:0.0:0.0	.	593;595;688	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	G	688;593;603;595	ENSP00000378611:D688G;ENSP00000378610:D593G;ENSP00000425589:D603G;ENSP00000264343:D595G	ENSP00000264343:D595G	D	+	2	0	ARHGAP24	87140715	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.248000	0.95456	2.241000	0.73720	0.533000	0.62120	GAT		0.448	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		G	86921691	A	G	86921691	3	3	253	1	0	0	0	0	1	0	0	0	873	333	12	3	2213	3	ARHGAP24	4	86921691	Missense_Mutation	SNP	A	TCGA-B3-4103-01A-01D-1458-08	16943492	86921691	104232585	14	15199											
SEMA5A	9037	hgsc.bcm.edu	37	5	9226981	9226981	+	Splice_Site	SNP	C	C	T	rs141767878		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr5:9226981C>T	ENST00000382496.5	-	7	1097	c.432G>A	c.(430-432)tcG>tcA	p.S144S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	144	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GAAGCCATACCGAGCGGTTGG	0.438																																																0								C		0,4406		0,0,2203	56	60	58		432	4.1	1	5	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	SEMA5A	NM_003966.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		144/1075	9226981	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.432+1G>A	chr5.hg19:g.9226981C>T			D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	hg19	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352056	0.41700	0.0	1.16E-4	ENSG00000112902	ENST00000514923	.	.	.	4.93	4.05	0.47172	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60826	-0.7186	4	.	.	.	.	11.7678	0.51941	0.0:0.823:0.177:0.0	.	.	.	.	I	92	.	.	V	-	1	0	SEMA5A	9279981	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.490000	0.53245	1.185000	0.42971	0.655000	0.94253	GTT		0.438	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		Silent	T	9226981	C	T	9226981	5	4	253	1	0	0	0	0	0	0	1	0	14043	666	23	1	2860	1	SEMA5A	5	9226981	Splice_Site	SNP	C	TCGA-B3-4103-01A-01D-1458-08		9226981	171688279	15	15200											
ADAMTS19	171019	hgsc.bcm.edu	37	5	128956361	128956361	+	Missense_Mutation	SNP	A	A	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr5:128956361A>G	ENST00000274487.4	+	9	1656	c.1511A>G	c.(1510-1512)cAt>cGt	p.H504R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	504	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATGGTCTTCATATCATGTCT	0.373																																																0													167	153	157					5																	128956361		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1511A>G	chr5.hg19:g.128956361A>G	ENSP00000274487:p.His504Arg			Missense_Mutation	SNP	ENST00000274487.4	hg19	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893486	0.72639	.	.	ENSG00000145808	ENST00000274487	T	0.62639	0.01	4.51	4.51	0.55191	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	T	0.73140	0.3549	L	0.49126	1.545	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.72459	-0.4287	9	.	.	.	.	14.8814	0.70537	1.0:0.0:0.0:0.0	.	504	Q8TE59	ATS19_HUMAN	R	504	ENSP00000274487:H504R	.	H	+	2	0	ADAMTS19	128984260	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.916000	0.87491	2.246000	0.74042	0.533000	0.62120	CAT		0.373	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		G	128956361	A	G	128956361	3	3	253	1	0	0	0	0	1	0	0	0	264	217	8	3	1545	3	ADAMTS19	5	128956361	Missense_Mutation	SNP	A	TCGA-B3-4103-01A-01D-1458-08	119729380	128956361	51958899	16	15201											
GABRG2	2566	hgsc.bcm.edu	37	5	161576298	161576298	+	Missense_Mutation	SNP	A	A	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr5:161576298A>T	ENST00000361925.4	+	8	1327	c.1107A>T	c.(1105-1107)aaA>aaT	p.K369N	GABRG2_ENST00000393933.4_Missense_Mutation_p.K274N|GABRG2_ENST00000356592.3_Missense_Mutation_p.K369N|GABRG2_ENST00000414552.2_Missense_Mutation_p.K409N			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	369					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCAAGGACAAAGATAAAAAGA	0.373																																																0													118	102	107					5																	161576298		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1107A>T	chr5.hg19:g.161576298A>T	ENSP00000354651:p.Lys369Asn		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	hg19	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633505	0.47049	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86865	-2.18;-2.18;-2.15;-2.15	5.61	0.527	0.17084	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.305790	0.04797	N	0.432698	D	0.85535	0.5719	M	0.68317	2.08	0.48511	D	0.999667	B;B;B	0.14438	0.01;0.007;0.01	B;B;B	0.23852	0.02;0.049;0.049	T	0.70916	-0.4742	10	0.56958	D	0.05	.	5.4602	0.16612	0.5861:0.1356:0.2784:0.0	.	409;369;369	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	N	369;409;369;274	ENSP00000349000:K369N;ENSP00000410732:K409N;ENSP00000354651:K369N;ENSP00000377510:K274N	ENSP00000349000:K369N	K	+	3	2	GABRG2	161508876	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.143000	0.50608	-0.128000	0.11641	-0.263000	0.10527	AAA		0.373	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			T	161576298	A	T	161576298	3	4	253	1	0	0	0	0	1	0	0	0	6174	69	3	5	1261	5	GABRG2	5	161576298	Missense_Mutation	SNP	A	TCGA-B3-4103-01A-01D-1458-08	32619937	161576298	19338962	17	15202											
FAM135A	57579	hgsc.bcm.edu	37	6	71234676	71234676	+	Missense_Mutation	SNP	T	T	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr6:71234676T>A	ENST00000418814.2	+	15	2503	c.1889T>A	c.(1888-1890)aTg>aAg	p.M630K	FAM135A_ENST00000457062.2_Missense_Mutation_p.M417K|FAM135A_ENST00000505868.1_Missense_Mutation_p.M630K|FAM135A_ENST00000505769.1_Missense_Mutation_p.M434K|FAM135A_ENST00000370479.3_Missense_Mutation_p.M417K|FAM135A_ENST00000361499.3_Missense_Mutation_p.M434K	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	630										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATTACACAAATGGAACACAAT	0.393																																																0													70	64	66					6																	71234676		2203	4299	6502	SO:0001583	missense	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1889T>A	chr6.hg19:g.71234676T>A	ENSP00000410768:p.Met630Lys		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	hg19	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464055	0.26335	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.87	3.5	0.40072	.	0.419502	0.28453	N	0.015293	T	0.28928	0.0718	N	0.08118	0	0.27751	N	0.944159	B;B;B;B	0.15473	0.013;0.008;0.011;0.013	B;B;B;B	0.20577	0.03;0.008;0.019;0.03	T	0.27571	-1.0070	10	0.06494	T	0.89	.	8.0899	0.30795	0.0:0.2862:0.0:0.7138	.	630;630;434;417	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	K	630;417;434;417;434;630	ENSP00000410768:M630K;ENSP00000359510:M417K;ENSP00000423785:M434K;ENSP00000409201:M417K;ENSP00000354913:M434K;ENSP00000423307:M630K	ENSP00000354913:M434K	M	+	2	0	FAM135A	71291397	0.983000	0.35010	0.999000	0.59377	0.962000	0.63368	0.518000	0.22847	0.576000	0.29452	0.533000	0.62120	ATG		0.393	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		A	71234676	T	A	71234676	3	1	253	1	0	0	0	0	1	0	0	0	5450	1464	51	5	2017	5	FAM135A	6	71234676	Missense_Mutation	SNP	T	TCGA-B3-4103-01A-01D-1458-08		71234676	99880391	18	15203											
CTTNBP2	83992	hgsc.bcm.edu	37	7	117364734	117364734	+	Silent	SNP	T	T	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:117364734T>A	ENST00000160373.3	-	19	4405	c.4314A>T	c.(4312-4314)atA>atT	p.I1438I		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1438					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AACTGGAAACTATGGATAAAG	0.438																																																0													106	96	100					7																	117364734		2203	4300	6503	SO:0001819	synonymous_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4314A>T	chr7.hg19:g.117364734T>A			O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	hg19	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	2.995	-0.207314	0.06180	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.45	-4.08	0.03963	.	.	.	.	.	T	0.38532	0.1044	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37934	-0.9684	4	.	.	.	-1.618	1.9951	0.03455	0.2862:0.4031:0.1445:0.1662	.	.	.	.	C	926	.	.	S	-	1	0	CTTNBP2	117151970	0.378000	0.25114	0.285000	0.24819	0.253000	0.25986	-0.307000	0.08167	-0.488000	0.06726	-0.408000	0.06270	AGT		0.438	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		A	117364734	T	A	117364734	2	1	253	1	0	0	0	0	0	0	0	1	4047	1512	53	5		5	CTTNBP2	7	117364734	Silent	SNP	T	TCGA-B3-4103-01A-01D-1458-08		117364734	41773929	19	15204											
ARF5	381	hgsc.bcm.edu	37	7	127229193	127229193	+	Missense_Mutation	SNP	A	A	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:127229193A>G	ENST00000000233.5	+	2	278	c.124A>G	c.(124-126)Att>Gtt	p.I42V	ARF5_ENST00000467281.1_3'UTR|GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	42					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GTTGGGGGAGATTGTCACCAC	0.632											OREG0018287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													84	77	79					7																	127229193		2203	4300	6503	SO:0001583	missense	381				CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"ADP-ribosylation factors"	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.124A>G	chr7.hg19:g.127229193A>G	ENSP00000000233:p.Ile42Val	1555	P26437	Missense_Mutation	SNP	ENST00000000233.5	hg19	CCDS34745.1	.	.	.	.	.	.	.	.	.	.	a	17.35	3.367076	0.61513	.	.	ENSG00000004059	ENST00000000233;ENST00000415666	D;D	0.81821	-1.54;-1.54	5.19	3.96	0.45880	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	N	0.03050	-0.425	0.44635	D	0.997619	B;B	0.10296	0.003;0.003	B;B	0.16289	0.015;0.015	T	0.53746	-0.8395	10	0.29301	T	0.29	-8.2547	9.1237	0.36801	0.8363:0.0:0.0:0.1636	.	42;42	A4D0Z3;P84085	.;ARF5_HUMAN	V	42	ENSP00000000233:I42V;ENSP00000412701:I42V	ENSP00000000233:I42V	I	+	1	0	ARF5	127016429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.106000	0.77039	1.962000	0.57031	0.444000	0.29173	ATT		0.632	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		G	127229193	A	G	127229193	3	3	253	1	0	0	0	0	1	0	0	0	847	333	12	3	130	3	ARF5	7	127229193	Missense_Mutation	SNP	A	TCGA-B3-4103-01A-01D-1458-08	9864459	127229193	31909470	20	15205											
ABRA	137735	hgsc.bcm.edu	37	8	107782408	107782408	+	Missense_Mutation	SNP	C	C	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr8:107782408C>A	ENST00000311955.3	-	1	65	c.11G>T	c.(10-12)gGc>gTc	p.G4V		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTCCTTTTCGCCCGGAGCCAT	0.597																																																0													33	37	35					8																	107782408		2202	4295	6497	SO:0001583	missense	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.11G>T	chr8.hg19:g.107782408C>A	ENSP00000311436:p.Gly4Val			Missense_Mutation	SNP	ENST00000311955.3	hg19	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174542	0.38413	.	.	ENSG00000174429	ENST00000311955	.	.	.	5.66	3.63	0.41609	.	0.510379	0.22113	N	0.064446	T	0.45796	0.1360	L	0.44542	1.39	0.53005	D	0.999964	P	0.42203	0.773	P	0.45712	0.491	T	0.45948	-0.9226	9	0.59425	D	0.04	-3.5289	4.2762	0.10809	0.0:0.5455:0.0:0.4545	.	4	Q8N0Z2	ABRA_HUMAN	V	4	.	ENSP00000311436:G4V	G	-	2	0	ABRA	107851584	1.000000	0.71417	0.870000	0.34147	0.314000	0.28054	1.867000	0.39499	1.377000	0.46286	0.655000	0.94253	GGC		0.597	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		A	107782408	C	A	107782408	3	1	253	1	0	0	0	0	1	0	0	0	100	739	26	4	1142	4	ABRA	8	107782408	Missense_Mutation	SNP	C	TCGA-B3-4103-01A-01D-1458-08		107782408	38581614	21	15206											
MRPL13	28998	hgsc.bcm.edu	37	8	121455496	121455496	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr8:121455496G>A	ENST00000306185.3	-	2	371	c.80C>T	c.(79-81)cCa>cTa	p.P27L	MTBP_ENST00000305949.1_5'Flank	NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	27					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTGCCAGGTGGCTGCATTTT	0.373																																																0													123	118	120					8																	121455496		2203	4300	6503	SO:0001583	missense	28998			AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"Mitochondrial ribosomal proteins / large subunits"	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.80C>T	chr8.hg19:g.121455496G>A	ENSP00000306548:p.Pro27Leu		B2R4R8|Q9UI04	Missense_Mutation	SNP	ENST00000306185.3	hg19	CCDS6332.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607489	0.87157	.	.	ENSG00000172172	ENST00000306185;ENST00000518918	.	.	.	5.65	5.65	0.86999	Ribosomal protein L13 domain (2);	0.000000	0.85682	D	0.000000	D	0.83280	0.5220	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82942	-0.0207	9	0.45353	T	0.12	-0.4573	19.3324	0.94297	0.0:0.0:1.0:0.0	.	27	Q9BYD1	RM13_HUMAN	L	27;3	.	ENSP00000306548:P27L	P	-	2	0	MRPL13	121524677	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	9.102000	0.94226	2.663000	0.90544	0.542000	0.68232	CCA		0.373	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078		A	121455496	G	A	121455496	3	1	253	1	0	0	0	0	1	0	0	0	9780	1348	47	2	480	2	MRPL13	8	121455496	Missense_Mutation	SNP	G	TCGA-B3-4103-01A-01D-1458-08	13673088	121455496	24908526	22	15207											
CYHR1	50626	hgsc.bcm.edu	37	8	145690192	145690192	+	Splice_Site	SNP	C	C	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr8:145690192C>G	ENST00000438911.2	-	1	226	c.93G>C	c.(91-93)gaG>gaC	p.E31D	CYHR1_ENST00000424149.2_Splice_Site_p.E31D|KIFC2_ENST00000301331.5_5'Flank|CYHR1_ENST00000306145.5_Splice_Site_p.E31D|CYHR1_ENST00000530374.1_5'Flank|KIFC2_ENST00000301332.2_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000403000.2_Splice_Site_p.E31D	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	31						cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTGTACTCACCTCGGCTGTGC	0.627																																																0													37	38	38					8																	145690192		2197	4298	6495	SO:0001630	splice_region_variant	50626			AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"cysteine and histidine rich 1"			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.93+1G>C	chr8.hg19:g.145690192C>G			B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Missense_Mutation	SNP	ENST00000438911.2	hg19	CCDS47943.1	.	.	.	.	.	.	.	.	.	.	c	17.42	3.385251	0.61956	.	.	ENSG00000187954	ENST00000438911;ENST00000526887;ENST00000403000;ENST00000424149;ENST00000306145;ENST00000533764;ENST00000530637	T;T;T;T;T;T;T	0.43688	0.94;1.65;0.94;0.94;0.94;0.94;0.94	4.22	4.22	0.49857	.	0.251507	0.25386	U	0.031059	T	0.24736	0.0600	N	0.08118	0	0.09310	N	0.999991	B;B	0.21606	0.058;0.0	B;B	0.19391	0.025;0.001	T	0.27297	-1.0078	10	0.72032	D	0.01	.	12.4423	0.55631	0.0:1.0:0.0:0.0	.	31;31	Q6ZMK1-3;Q6ZMK1	.;CYHR1_HUMAN	D	31	ENSP00000387426:E31D;ENSP00000434470:E31D;ENSP00000385962:E31D;ENSP00000414647:E31D;ENSP00000304826:E31D;ENSP00000432902:E31D;ENSP00000434642:E31D	ENSP00000304826:E31D	E	-	3	2	CYHR1	145661000	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.359000	0.44142	2.074000	0.62210	0.556000	0.70494	GAG		0.627	CYHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382438.1	NM_032687	Missense_Mutation	G	145690192	C	G	145690192	5	3	253	1	0	0	0	0	0	0	1	0	4142	695	24	4	1348	4	CYHR1	8	145690192	Splice_Site	SNP	C	TCGA-B3-4103-01A-01D-1458-08	24234696	145690192	673830	23	15208											
TNFSF8	944	hgsc.bcm.edu	37	9	117666220	117666220	+	Missense_Mutation	SNP	A	A	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr9:117666220A>C	ENST00000223795.2	-	4	809	c.696T>G	c.(694-696)aaT>aaG	p.N232K	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	232					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCAGTCTGAATTACTGTATA	0.408																																																0													165	157	159					9																	117666220		2203	4300	6503	SO:0001583	missense	944			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.696T>G	chr9.hg19:g.117666220A>C	ENSP00000223795:p.Asn232Lys		O43404	Missense_Mutation	SNP	ENST00000223795.2	hg19	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255547	0.22965	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.78	2.21	0.28008	.	0.916415	0.09426	N	0.803692	T	0.18130	0.0435	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.23048	-1.0199	9	0.48119	T	0.1	-0.0101	4.7061	0.12849	0.6059:0.1526:0.2415:0.0	.	232	P32971	TNFL8_HUMAN	K	232	.	ENSP00000223795:N232K	N	-	3	2	TNFSF8	116706041	0.167000	0.22975	0.531000	0.27976	0.664000	0.39144	0.394000	0.20834	0.135000	0.18707	-0.256000	0.11100	AAT		0.408	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			C	117666220	A	C	117666220	3	2	253	1	0	0	0	0	1	0	0	0	16316	98	4	5	12	5	TNFSF8	9	117666220	Missense_Mutation	SNP	A	TCGA-B3-4103-01A-01D-1458-08		117666220	23547211	24	15209											
TNKS2	80351	hgsc.bcm.edu	37	10	93593686	93593686	+	Missense_Mutation	SNP	T	T	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr10:93593686T>C	ENST00000371627.4	+	12	1731	c.1352T>C	c.(1351-1353)cTa>cCa	p.L451P		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	451					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ACCTGCCGCCTACTCCTGAGC	0.413																																																0													148	131	137					10																	93593686		2203	4300	6503	SO:0001583	missense	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1352T>C	chr10.hg19:g.93593686T>C	ENSP00000360689:p.Leu451Pro		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	hg19	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.715685	0.89112	.	.	ENSG00000107854	ENST00000371627	T	0.70164	-0.46	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.47093	D	0.000247	D	0.86489	0.5945	M	0.94142	3.5	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.89940	0.4072	10	0.62326	D	0.03	.	16.1968	0.82036	0.0:0.0:0.0:1.0	.	451	Q9H2K2	TNKS2_HUMAN	P	451	ENSP00000360689:L451P	ENSP00000360689:L451P	L	+	2	0	TNKS2	93583666	1.000000	0.71417	0.975000	0.42487	0.983000	0.72400	8.040000	0.89188	2.225000	0.72522	0.533000	0.62120	CTA		0.413	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		C	93593686	T	C	93593686	3	2	253	1	0	0	0	0	1	0	0	0	16326	1522	53	3	1398	3	TNKS2	10	93593686	Missense_Mutation	SNP	T	TCGA-B3-4103-01A-01D-1458-08		93593686	41941061	25	15210											
ITPRIP	85450	hgsc.bcm.edu	37	10	106075425	106075425	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr10:106075425C>T	ENST00000337478.1	-	2	556	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	ITPRIP_ENST00000278071.2_Missense_Mutation_p.A129T|ITPRIP_ENST00000358187.2_Missense_Mutation_p.A129T|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	129						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGCAAGGGGGCGCCCCCCAGC	0.692																																																0													35	41	39					10																	106075425		2203	4298	6501	SO:0001583	missense	85450			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.385G>A	chr10.hg19:g.106075425C>T	ENSP00000337178:p.Ala129Thr		D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	hg19	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.730767	0.00687	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.22134	1.97;1.97;1.97	5.68	-5.02	0.02982	.	1.189030	0.05773	N	0.607175	T	0.10551	0.0258	N	0.13043	0.29	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.39563	-0.9608	10	0.12430	T	0.62	-5.7595	10.1192	0.42609	0.0857:0.426:0.0:0.4883	.	129	Q8IWB1	IPRI_HUMAN	T	129	ENSP00000337178:A129T;ENSP00000278071:A129T;ENSP00000350915:A129T	ENSP00000278071:A129T	A	-	1	0	ITPRIP	106065415	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.312000	0.08113	-1.181000	0.02730	-1.119000	0.02030	GCC		0.692	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		T	106075425	C	T	106075425	3	4	253	1	0	0	0	0	1	0	0	0	7925	768	27	1	1262	1	ITPRIP	10	106075425	Missense_Mutation	SNP	C	TCGA-B3-4103-01A-01D-1458-08	12481739	106075425	29459322	26	15211											
MRGPRX1	259249	hgsc.bcm.edu	37	11	18955994	18955994	+	Missense_Mutation	SNP	A	A	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr11:18955994A>T	ENST00000302797.3	-	1	562	c.338T>A	c.(337-339)cTg>cAg	p.L113Q	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	113					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACGGCACTCAGAAAGCTCAG	0.542																																																0													100	96	98					11																	18955994		2194	4286	6480	SO:0001583	missense	259249				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.338T>A	chr11.hg19:g.18955994A>T	ENSP00000305766:p.Leu113Gln		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	hg19	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	16.41	3.114997	0.56505	.	.	ENSG00000170255	ENST00000302797	D	0.81579	-1.51	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000078	D	0.91199	0.7227	H	0.95982	3.75	0.29298	N	0.868908	D	0.89917	1.0	D	0.91635	0.999	D	0.85057	0.0932	10	0.87932	D	0	.	8.4333	0.32771	1.0:0.0:0.0:0.0	.	113	Q96LB2	MRGX1_HUMAN	Q	113	ENSP00000305766:L113Q	ENSP00000305766:L113Q	L	-	2	0	MRGPRX1	18912570	0.996000	0.38824	0.008000	0.14137	0.026000	0.11368	7.327000	0.79147	1.292000	0.44672	0.402000	0.26972	CTG		0.542	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		T	18955994	A	T	18955994	3	4	253	1	0	0	0	0	1	0	0	0	9768	188	7	5	634	5	MRGPRX1	11	18955994	Missense_Mutation	SNP	A	TCGA-B3-4103-01A-01D-1458-08		18955994	116050522	27	15212											
ABCG4	64137	hgsc.bcm.edu	37	11	119027678	119027678	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr11:119027678G>T	ENST00000449422.2	+	9	1210	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	ABCG4_ENST00000531739.1_Missense_Mutation_p.S341I|AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000307417.3_Missense_Mutation_p.S341I	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	341					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AAGAAGAGCAGCCCTGAGAAG	0.607																																																0													180	164	170					11																	119027678		2200	4295	6495	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1022G>T	chr11.hg19:g.119027678G>T	ENSP00000406874:p.Ser341Ile		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	hg19	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998773	0.54147	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739;ENST00000534402	D;D;D;T	0.87412	-2.25;-2.25;-2.25;0.85	5.65	3.69	0.42338	.	0.573919	0.21547	N	0.072794	T	0.78660	0.4318	L	0.35854	1.095	0.36220	D	0.851913	B	0.13594	0.008	B	0.13407	0.009	T	0.75360	-0.3345	10	0.38643	T	0.18	-8.3485	6.2254	0.20706	0.071:0.1345:0.6546:0.1398	.	341	Q9H172	ABCG4_HUMAN	I	341;341;341;19	ENSP00000304111:S341I;ENSP00000406874:S341I;ENSP00000434318:S341I;ENSP00000434571:S19I	ENSP00000304111:S341I	S	+	2	0	ABCG4	118532888	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.327000	0.43858	1.359000	0.45940	0.655000	0.94253	AGC		0.607	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		T	119027678	G	T	119027678	3	4	253	1	0	0	0	0	1	0	0	0	70	971	34	4	1052	4	ABCG4	11	119027678	Missense_Mutation	SNP	G	TCGA-B3-4103-01A-01D-1458-08	100071684	119027678	15978838	28	15213											
WDR66	144406	hgsc.bcm.edu	37	12	122413567	122413567	+	Silent	SNP	T	T	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr12:122413567T>C	ENST00000288912.4	+	19	3836	c.2982T>C	c.(2980-2982)atT>atC	p.I994I		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	994							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGAGCAATTGGCTTTTACC	0.438																																					Esophageal Squamous(85;849 1794 49757 52143)											0													119	111	113					12																	122413567		1915	4145	6060	SO:0001819	synonymous_variant	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2982T>C	chr12.hg19:g.122413567T>C			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	hg19	CCDS41853.1																																																																																				0.438	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		C	122413567	T	C	122413567	2	2	253	1	0	0	0	0	0	0	0	1	17322	1800	63	3		3	WDR66	12	122413567	Silent	SNP	T	TCGA-B3-4103-01A-01D-1458-08		122413567	11438328	29	15214											
FRMD6	122786	hgsc.bcm.edu	37	14	52182105	52182105	+	Silent	SNP	G	G	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr14:52182105G>T	ENST00000344768.5	+	10	1108	c.912G>T	c.(910-912)acG>acT	p.T304T	FRMD6_ENST00000395718.2_Silent_p.T296T|FRMD6_ENST00000553556.1_5'Flank|FRMD6_ENST00000554167.1_Silent_p.T227T|FRMD6_ENST00000356218.4_Silent_p.T296T			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	304	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TATACTACACGGGGTGCCCCA	0.507																																																0													62	65	64					14																	52182105		2203	4300	6503	SO:0001819	synonymous_variant	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.912G>T	chr14.hg19:g.52182105G>T			D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	hg19	CCDS58318.1																																																																																				0.507	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		T	52182105	G	T	52182105	2	4	253	1	0	0	0	0	0	0	0	1	6056	1103	39	4		4	FRMD6	14	52182105	Silent	SNP	G	TCGA-B3-4103-01A-01D-1458-08		52182105	55167435	30	15215											
ANGEL1	23357	hgsc.bcm.edu	37	14	77274402	77274411	+	Frame_Shift_Del	DEL	GAGTGAACTG	GAGTGAACTG	-	rs138394702	byFrequency	TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	GAGTGAACTG	GAGTGAACTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr14:77274402_77274411delGAGTGAACTG	ENST00000251089.2	-	3	842_851	c.730_739delCAGTTCACTC	c.(730-741)cagttcactctgfs	p.QFTL244fs	ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	244										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TAAGACATCAGAGTGAACTGGAACTGAGGG	0.505																																																0																																										SO:0001589	frameshift_variant	23357			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.730_739delCAGTTCACTC	chr14.hg19:g.77274402_77274411delGAGTGAACTG	ENSP00000251089:p.Gln244fs		B4DWL7|O94859|Q8NCS9	Frame_Shift_Del	DEL	ENST00000251089.2	hg19	CCDS9852.1																																																																																				0.505	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		-	77274411	GAGTGAACTG	-	77274402	7	5	253	1	0	1	0	1	0	0	0	0	608	933	33	0	1305	0	ANGEL1	14	77274402	Frame_Shift_Del	DEL	GAGTGAACTG	TCGA-B3-4103-01A-01D-1458-08	25092297	77274402	30075138	31	15216											
TMC3	342125	hgsc.bcm.edu	37	15	81648105	81648105	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr15:81648105G>A	ENST00000359440.5	-	9	1031	c.896C>T	c.(895-897)gCt>gTt	p.A299V	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.A299V	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTCCAATATAGCTTCCTTTAA	0.284																																																0													120	114	116					15																	81648105		1789	4056	5845	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.896C>T	chr15.hg19:g.81648105G>A	ENSP00000352413:p.Ala299Val			Missense_Mutation	SNP	ENST00000359440.5	hg19	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901887	0.52227	.	.	ENSG00000188869	ENST00000359440	T	0.21191	2.02	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	L	0.54965	1.715	0.58432	D	0.999997	D;D	0.58970	0.984;0.973	P;P	0.56514	0.785;0.8	T	0.15037	-1.0451	10	0.72032	D	0.01	-13.4261	16.9402	0.86216	0.0:0.0:1.0:0.0	.	299;299	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	V	299	ENSP00000352413:A299V	ENSP00000352413:A299V	A	-	2	0	TMC3	79435160	1.000000	0.71417	0.925000	0.36789	0.111000	0.19643	6.165000	0.71891	2.408000	0.81797	0.555000	0.69702	GCT		0.284	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		A	81648105	G	A	81648105	3	1	253	1	0	0	0	0	1	0	0	0	15991	971	34	2	2462	2	TMC3	15	81648105	Missense_Mutation	SNP	G	TCGA-B3-4103-01A-01D-1458-08		81648105	20883287	32	15217											
ADAMTS17	170691	hgsc.bcm.edu	37	15	100657190	100657190	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr15:100657190C>T	ENST00000268070.4	-	13	1855	c.1750G>A	c.(1750-1752)Ggt>Agt	p.G584S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	584	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACACTGGCACCCGGGCAGTGT	0.632																																																0													39	33	35					15																	100657190		2203	4300	6503	SO:0001583	missense	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1750G>A	chr15.hg19:g.100657190C>T	ENSP00000268070:p.Gly584Ser		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	hg19	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259132	0.80246	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.60672	0.17	5.18	5.18	0.71444	.	0.141210	0.47852	D	0.000203	T	0.69459	0.3113	M	0.88450	2.955	0.54753	D	0.999987	P;B	0.38473	0.633;0.251	B;B	0.40375	0.327;0.108	T	0.77120	-0.2705	10	0.87932	D	0	.	18.7048	0.91633	0.0:1.0:0.0:0.0	.	341;584	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	S	584;341	ENSP00000268070:G584S	ENSP00000268070:G584S	G	-	1	0	ADAMTS17	98474713	0.870000	0.30015	0.451000	0.26982	0.858000	0.48976	2.708000	0.47152	2.419000	0.82065	0.655000	0.94253	GGT		0.632	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		T	100657190	C	T	100657190	3	4	253	1	0	0	0	0	1	0	0	0	262	623	22	2	1577	2	ADAMTS17	15	100657190	Missense_Mutation	SNP	C	TCGA-B3-4103-01A-01D-1458-08	19009085	100657190	1874202	33	15218											
IFT140	9742	hgsc.bcm.edu	37	16	1608090	1608090	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr16:1608090G>T	ENST00000426508.2	-	19	2608	c.2245C>A	c.(2245-2247)Cac>Aac	p.H749N	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	749					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGAGGGATGTGGTGGCACCCA	0.552																																																0													149	145	146					16																	1608090		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2245C>A	chr16.hg19:g.1608090G>T	ENSP00000406012:p.His749Asn		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	hg19	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	9.526	1.109524	0.20714	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.41400	1.0	5.0	-3.73	0.04398	.	0.869820	0.10298	N	0.691510	T	0.15912	0.0383	N	0.08118	0	0.09310	N	1	B;B	0.23735	0.017;0.09	B;B	0.26416	0.021;0.069	T	0.23048	-1.0199	10	0.17832	T	0.49	.	1.4862	0.02447	0.393:0.097:0.2946:0.2155	.	749;474	Q96RY7;B4DR58	IF140_HUMAN;.	N	749	ENSP00000406012:H749N	ENSP00000380562:H749N	H	-	1	0	IFT140	1548091	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.055000	0.11807	-1.123000	0.02940	0.563000	0.77884	CAC		0.552	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		T	1608090	G	T	1608090	3	4	253	1	0	0	0	0	1	0	0	0	7558	1348	47	4	2195	4	IFT140	16	1608090	Missense_Mutation	SNP	G	TCGA-B3-4103-01A-01D-1458-08		1608090	88746663	34	15219											
ASGR1	432	hgsc.bcm.edu	37	17	7081872	7081872	+	Missense_Mutation	SNP	T	T	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:7081872T>G	ENST00000269299.3	-	2	410	c.11A>C	c.(10-12)gAg>gCg	p.E4A	ASGR1_ENST00000380920.4_5'Flank|ASGR1_ENST00000572879.1_5'Flank|ASGR1_ENST00000574388.1_Missense_Mutation_p.E4A	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	4					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GTCTTGATACTCCTTGGTCAT	0.577																																																0													129	90	103					17																	7081872		2203	4300	6503	SO:0001583	missense	432				CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"C-type lectin domain containing"	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.11A>C	chr17.hg19:g.7081872T>G	ENSP00000269299:p.Glu4Ala		I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	hg19	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533519	0.45073	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T	0.01015	5.44	4.43	4.43	0.53597	.	0.332135	0.21660	N	0.071026	T	0.00724	0.0024	N	0.14661	0.345	0.80722	D	1	B	0.30741	0.293	B	0.22386	0.039	T	0.73212	-0.4054	10	0.32370	T	0.25	.	10.0445	0.42177	0.0:0.0:0.0:1.0	.	4	P07306	ASGR1_HUMAN	A	4	ENSP00000269299:E4A	ENSP00000269299:E4A	E	-	2	0	ASGR1	7022596	0.996000	0.38824	0.991000	0.47740	0.852000	0.48524	3.429000	0.52800	1.875000	0.54330	0.449000	0.29647	GAG		0.577	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	NM_001671		G	7081872	T	G	7081872	3	3	253	1	0	0	0	0	1	0	0	0	1039	1551	54	5	896	5	ASGR1	17	7081872	Missense_Mutation	SNP	T	TCGA-B3-4103-01A-01D-1458-08		7081872	74113338	35	15220											
PFAS	5198	hgsc.bcm.edu	37	17	8170542	8170542	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:8170542C>T	ENST00000314666.6	+	24	3297	c.3164C>T	c.(3163-3165)cCc>cTc	p.P1055L	PFAS_ENST00000545834.1_Missense_Mutation_p.P631L	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1055					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GCCTCCGTGCCCCGTGAGCCT	0.677																																																0													18	17	17					17																	8170542		2201	4299	6500	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3164C>T	chr17.hg19:g.8170542C>T	ENSP00000313490:p.Pro1055Leu		A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	hg19	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	6.971	0.549059	0.13312	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.33216	1.42;2.17	5.57	4.6	0.57074	AIR synthase-related protein, C-terminal (1);	0.289920	0.33959	N	0.004381	T	0.20495	0.0493	N	0.22421	0.69	0.48452	D	0.999654	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04509	-1.0946	10	0.87932	D	0	-5.7605	8.6639	0.34110	0.0:0.8278:0.0:0.1722	.	1055;1055	A8K8N7;O15067	.;PUR4_HUMAN	L	631;1055;464	ENSP00000441706:P631L;ENSP00000313490:P1055L	ENSP00000313490:P1055L	P	+	2	0	PFAS	8111267	0.561000	0.26578	0.827000	0.32855	0.173000	0.22820	1.670000	0.37502	1.368000	0.46115	0.655000	0.94253	CCC		0.677	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			T	8170542	C	T	8170542	3	4	253	1	0	0	0	0	1	0	0	0	11756	623	22	2	3254	2	PFAS	17	8170542	Missense_Mutation	SNP	C	TCGA-B3-4103-01A-01D-1458-08	1088670	8170542	73024668	36	15221											
PIPOX	51268	hgsc.bcm.edu	37	17	27370356	27370357	+	Splice_Site	INS	-	-	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:27370356_27370357insG	ENST00000323372.4	+	1	439_440	c.113_114insG	c.(112-117)cagttc>caGgttc	p.F39fs	PIPOX_ENST00000583215.1_Intron	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	39					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CTGCTGGAGCAGGTACTGTGTC	0.584																																																0																																										SO:0001630	splice_region_variant	51268			AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"L-pipecolic acid oxidase"					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.114+1->G	chr17.hg19:g.27370358_27370358dupG			B3KNH0|Q96H28|Q9C070	Frame_Shift_Ins	INS	ENST00000323372.4	hg19	CCDS11248.1																																																																																				0.584	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518	Frame_Shift_Ins	G	27370357	-	G	27370356	8	5	253	1	0	1	1	0	0	0	1	0	11945	202	7	0	115	0	PIPOX	17	27370356	Splice_Site	INS	-	TCGA-B3-4103-01A-01D-1458-08	19199814	27370356	53824854	37	15222											
ACE	1636	hgsc.bcm.edu	37	17	61562641	61562641	+	Missense_Mutation	SNP	T	T	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:61562641T>C	ENST00000290866.4	+	13	1990	c.1966T>C	c.(1966-1968)Tat>Cat	p.Y656H	ACE_ENST00000577647.1_Missense_Mutation_p.Y82H|ACE_ENST00000428043.1_Missense_Mutation_p.Y656H|ACE_ENST00000490216.2_Missense_Mutation_p.Y82H|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000290863.6_Missense_Mutation_p.Y82H|ACE_ENST00000413513.3_Missense_Mutation_p.Y82H	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	656	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGTGGAGGAATATGACCGGAC	0.552																																																0													165	123	137					17																	61562641		2203	4300	6503	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1966T>C	chr17.hg19:g.61562641T>C	ENSP00000290866:p.Tyr656His		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	hg19	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460662	0.43736	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.09	5.09	0.68999	.	0.060975	0.64402	D	0.000002	T	0.71031	0.3292	M	0.86864	2.845	0.80722	D	1	D;D;P;D	0.76494	0.971;0.998;0.881;0.999	P;D;P;D	0.85130	0.887;0.997;0.843;0.994	T	0.75584	-0.3267	10	0.54805	T	0.06	-20.9481	12.3936	0.55373	0.0:0.0:0.0:1.0	.	82;656;82;656	B4DXI3;P12821-2;P12821-3;P12821	.;.;.;ACE_HUMAN	H	656;656;82;82	ENSP00000290866:Y656H;ENSP00000397593:Y656H;ENSP00000290863:Y82H;ENSP00000392247:Y82H	ENSP00000290863:Y82H	Y	+	1	0	ACE	58916373	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	4.885000	0.63142	1.919000	0.55581	0.379000	0.24179	TAT		0.552	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			C	61562641	T	C	61562641	3	2	253	1	0	0	0	0	1	0	0	0	136	1406	49	3	2219	3	ACE	17	61562641	Missense_Mutation	SNP	T	TCGA-B3-4103-01A-01D-1458-08	34192285	61562641	19632569	38	15223											
DAZAP1	26528	hgsc.bcm.edu	37	19	1428875	1428875	+	Missense_Mutation	SNP	A	A	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:1428875A>G	ENST00000233078.4	+	8	742	c.581A>G	c.(580-582)aAg>aGg	p.K194R	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000336761.6_Missense_Mutation_p.K194R	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	194					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGACAGCAAGAGCCAAGCG	0.657																																																0													37	46	43					19																	1428875		2203	4300	6503	SO:0001583	missense	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.581A>G	chr19.hg19:g.1428875A>G	ENSP00000233078:p.Lys194Arg		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	hg19	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.711305	0.48517	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	T;T	0.73363	-0.74;-0.74	5.03	5.03	0.67393	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	N	0.24115	0.695	0.80722	D	1	P;B;B	0.46578	0.88;0.073;0.119	P;B;B	0.62184	0.899;0.014;0.031	T	0.71573	-0.4552	10	0.22109	T	0.4	.	13.948	0.64099	1.0:0.0:0.0:0.0	.	261;194;194	Q5IRN4;Q96EP5;Q96EP5-2	.;DAZP1_HUMAN;.	R	194	ENSP00000233078:K194R;ENSP00000337132:K194R	ENSP00000233078:K194R	K	+	2	0	DAZAP1	1379875	1.000000	0.71417	0.983000	0.44433	0.941000	0.58515	6.547000	0.73892	1.906000	0.55180	0.459000	0.35465	AAG		0.657	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		G	1428875	A	G	1428875	3	3	253	1	0	0	0	0	1	0	0	0	4246	72	3	3	611	3	DAZAP1	19	1428875	Missense_Mutation	SNP	A	TCGA-B3-4103-01A-01D-1458-08		1428875	57700108	39	15224											
EEF2	1938	hgsc.bcm.edu	37	19	3979985	3979985	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:3979985C>T	ENST00000309311.6	-	10	1514	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	476					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAACTGGTCCACGCCCACG	0.592																																					Colon(165;1804 1908 4071 6587 18799)											0													69	57	61					19																	3979985		2203	4300	6503	SO:0001583	missense	1938			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1426G>A	chr19.hg19:g.3979985C>T	ENSP00000307940:p.Asp476Asn		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	hg19	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492373	0.96339	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	D	0.82255	-1.59	5.45	5.45	0.79879	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	H	0.98965	4.385	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.97201	0.9864	10	0.87932	D	0	-55.7781	18.2479	0.89993	0.0:1.0:0.0:0.0	.	476	P13639	EF2_HUMAN	N	476	ENSP00000307940:D476N	ENSP00000307940:D476N	D	-	1	0	EEF2	3930985	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	7.773000	0.85462	2.555000	0.86185	0.561000	0.74099	GAC		0.592	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		T	3979985	C	T	3979985	3	4	253	1	0	0	0	0	1	0	0	0	4931	855	30	2	1174	2	EEF2	19	3979985	Missense_Mutation	SNP	C	TCGA-B3-4103-01A-01D-1458-08	2551110	3979985	55148998	40	15225											
FBN3	84467	hgsc.bcm.edu	37	19	8182139	8182139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:8182139delT	ENST00000600128.1	-	28	3914	c.3500delA	c.(3499-3501)gacfs	p.D1167fs	FBN3_ENST00000601739.1_Frame_Shift_Del_p.D1167fs|FBN3_ENST00000270509.2_Frame_Shift_Del_p.D1167fs			Q75N90	FBN3_HUMAN	fibrillin 3	1167	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACAGTGCACGTCACACCCACC	0.637																																																0													82	67	72					19																	8182139		2203	4300	6503	SO:0001589	frameshift_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3500delA	chr19.hg19:g.8182139delT	ENSP00000470498:p.Asp1167fs		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Del	DEL	ENST00000600128.1	hg19	CCDS12196.1																																																																																				0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		-	8182139	T	-	8182139	7	5	253	1	0	1	0	1	0	0	0	0	5706	1667	58	0	5077	0	FBN3	19	8182139	Frame_Shift_Del	DEL	T	TCGA-B3-4103-01A-01D-1458-08	4202154	8182139	50946844	41	15226											
EIF3G	8666	hgsc.bcm.edu	37	19	10230530	10230530	+	Silent	SNP	A	A	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:10230530A>G	ENST00000253108.4	-	1	48	c.6T>C	c.(4-6)ccT>ccC	p.P2P	EIF3G_ENST00000587168.1_5'Flank	NM_003755.3	NP_003746.2			eukaryotic translation initiation factor 3, subunit G											central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGTCTCCAGTAGGCATCGCAA	0.642											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(124;1100 1638 3822 4510 4876)											0													57	60	59					19																	10230530		2203	4300	6503	SO:0001819	synonymous_variant	8666			U96074	CCDS12227.1	19p13.2	2013-02-12	2007-07-27	2007-07-27		ENSG00000130811		"RNA binding motif (RRM) containing"	3274	protein-coding gene	gene with protein product		603913	"eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa"	EIF3S4		9822659	Standard	NM_003755		Approved	eIF3-delta, eIF3-p44, eIF3g	uc002mnd.3	O75821		ENST00000253108.4:c.6T>C	chr19.hg19:g.10230530A>G		663		Silent	SNP	ENST00000253108.4	hg19	CCDS12227.1																																																																																				0.642	EIF3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451144.1			G	10230530	A	G	10230530	2	3	253	1	0	0	0	0	0	0	0	1	5019	407	15	3		3	EIF3G	19	10230530	Silent	SNP	A	TCGA-B3-4103-01A-01D-1458-08	2048391	10230530	48898453	42	15227											
ZNF627	199692	hgsc.bcm.edu	37	19	11728624	11728624	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:11728624G>T	ENST00000361113.5	+	4	1514	c.1306G>T	c.(1306-1308)Gta>Tta	p.V436L	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTACTTTCGAGTACATGAAAA	0.423																																					Melanoma(112;173 1614 10731 17751 23322)											0													55	59	57					19																	11728624		2198	4297	6495	SO:0001583	missense	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"Zinc fingers, C2H2-type", "-"	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.1306G>T	chr19.hg19:g.11728624G>T	ENSP00000354414:p.Val436Leu		O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	hg19	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	g	3.954	-0.011756	0.07727	.	.	ENSG00000198551	ENST00000361113	T	0.07908	3.15	1.43	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.25825	0.765	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44345	-0.9334	9	0.23302	T	0.38	.	3.0288	0.06099	0.5661:0.2481:0.1857:0.0	.	436	Q7L945	ZN627_HUMAN	L	436	ENSP00000354414:V436L	ENSP00000354414:V436L	V	+	1	0	ZNF627	11589624	0.000000	0.05858	0.000000	0.03702	0.781000	0.44180	-2.946000	0.00680	-0.450000	0.07107	-0.670000	0.03821	GTA		0.423	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		T	11728624	G	T	11728624	3	4	253	1	0	0	0	0	1	0	0	0	18056	1029	36	4	1320	4	ZNF627	19	11728624	Missense_Mutation	SNP	G	TCGA-B3-4103-01A-01D-1458-08	1498094	11728624	47400359	43	15228											
SLC5A3	6526	hgsc.bcm.edu	37	21	35467607	35467607	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr21:35467607G>A	ENST00000381151.3	+	2	622	c.110G>A	c.(109-111)aGt>aAt	p.S37N	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.S37N			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	37					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AGCACCGTGAGTGGATACTTC	0.488																																																0													169	168	169					21																	35467607		2203	4300	6503	SO:0001583	missense	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.110G>A	chr21.hg19:g.35467607G>A	ENSP00000370543:p.Ser37Asn		O43489	Missense_Mutation	SNP	ENST00000381151.3	hg19	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502590	0.44455	.	.	ENSG00000198743	ENST00000381151	D	0.86497	-2.13	6.09	6.09	0.99107	.	0.000000	0.85682	D	0.000000	D	0.84252	0.5431	L	0.42487	1.325	0.52099	D	0.999947	B	0.27286	0.174	B	0.20767	0.031	T	0.80355	-0.1417	10	0.56958	D	0.05	.	19.2541	0.93938	0.0:0.0:1.0:0.0	.	37	P53794	SC5A3_HUMAN	N	37	ENSP00000370543:S37N	ENSP00000370543:S37N	S	+	2	0	SLC5A3	34389477	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.594000	0.98254	2.898000	0.99336	0.596000	0.82720	AGT		0.488	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			A	35467607	G	A	35467607	3	1	253	1	0	0	0	0	1	0	0	0	14672	1029	36	2	112	2	SLC5A3	21	35467607	Missense_Mutation	SNP	G	TCGA-B3-4103-01A-01D-1458-08		35467607	12662288	44	15229											
SUSD2	56241	hgsc.bcm.edu	37	22	24581140	24581140	+	Silent	SNP	C	C	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr22:24581140C>A	ENST00000358321.3	+	6	1122	c.861C>A	c.(859-861)gcC>gcA	p.A287A		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	287	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACCCTGTGGCCTGGGCACGAA	0.662																																																0													29	30	30					22																	24581140		2203	4299	6502	SO:0001819	synonymous_variant	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.861C>A	chr22.hg19:g.24581140C>A			Q9H5Y6	Silent	SNP	ENST00000358321.3	hg19	CCDS13824.1																																																																																				0.662	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		A	24581140	C	A	24581140	2	1	253	1	0	0	0	0	0	0	0	1	15413	668	24	4		4	SUSD2	22	24581140	Silent	SNP	C	TCGA-B3-4103-01A-01D-1458-08		24581140	26723426	45	15230											
EP300	2033	hgsc.bcm.edu	37	22	41574679	41574681	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr22:41574679_41574681delCCC	ENST00000263253.7	+	31	8183_8185	c.6964_6966delCCC	c.(6964-6966)cccdel	p.P2323del	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2323					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACAGTCCCAGCCCCCCCACTCCA	0.616			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0																																										SO:0001651	inframe_deletion	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6964_6966delCCC	chr22.hg19:g.41574682_41574684delCCC	ENSP00000263253:p.Pro2323del		B1AKC2	In_Frame_Del	DEL	ENST00000263253.7	hg19	CCDS14010.1																																																																																				0.616	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		-	41574681	CCC	-	41574679	7	5	253	1	0	1	0	1	0	0	0	0	5150	739	26	0	7086	0	EP300	22	41574679	In_Frame_Del	DEL	CCC	TCGA-B3-4103-01A-01D-1458-08	16993539	41574679	9729887	46	15231											
TTLL1	25809	hgsc.bcm.edu	37	22	43442517	43442517	+	Silent	SNP	C	C	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr22:43442517C>G	ENST00000266254.7	-	10	1281	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	TTLL1_ENST00000331018.7_Silent_p.L318L|AL022476.2_ENST00000443063.1_RNA	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	347	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGTCATTAATCAGGTTGTACT	0.512																																																0													365	313	331					22																	43442517		2203	4300	6503	SO:0001819	synonymous_variant	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.1041G>C	chr22.hg19:g.43442517C>G			B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	hg19	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	3.860	-0.030135	0.07543	.	.	ENSG00000100271	ENST00000495814	.	.	.	5.41	0.463	0.16700	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2216	0.15371	0.1717:0.307:0.4416:0.0796	.	.	.	.	S	273	.	.	X	-	2	2	TTLL1	41772461	0.997000	0.39634	0.466000	0.27168	0.403000	0.30841	0.331000	0.19733	0.219000	0.20840	0.555000	0.69702	TGA		0.512	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		G	43442517	C	G	43442517	2	3	253	1	0	0	0	0	0	0	0	1	16727	813	29	4		4	TTLL1	22	43442517	Silent	SNP	C	TCGA-B3-4103-01A-01D-1458-08	1867838	43442517	7862049	47	15232											
CCNL2	81669	hgsc.bcm.edu	37	1	1334456	1334456	+	Silent	SNP	G	G	A	rs374243154		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:1334456G>A	ENST00000400809.3	-	1	236	c.231C>T	c.(229-231)ctC>ctT	p.L77L	RP4-758J18.2_ENST00000444362.1_5'Flank|MRPL20_ENST00000493287.1_5'Flank|CCNL2_ENST00000408918.4_Silent_p.L77L|RP4-758J18.2_ENST00000448629.2_5'Flank|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	77					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCACCACGCGGAGGTCGGTCT	0.692																																																0								G	,	0,4404		0,0,2202	52	43	46		231,231	0.9	0.1	1		46	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	CCNL2	NM_001039577.3,NM_030937.4	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	77/227,77/521	1334456	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	81669			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.231C>T	chr1.hg19:g.1334456G>A			A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	hg19	CCDS30557.1																																																																																				0.692	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		A	1334456	G	A	1334456	2	1	254	1	0	0	0	0	0	0	0	1	2934	1161	41	2		2	CCNL2	1	1334456	Silent	SNP	G	TCGA-B3-4104-01A-01D-1458-08		1334456	247916165	1	15233											
CCNL2	81669	hgsc.bcm.edu	37	1	1334592	1334592	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:1334592G>A	ENST00000400809.3	-	1	100	c.95C>T	c.(94-96)tCg>tTg	p.S32L	RP4-758J18.2_ENST00000444362.1_5'Flank|MRPL20_ENST00000493287.1_5'Flank|CCNL2_ENST00000408918.4_Missense_Mutation_p.S32L|RP4-758J18.2_ENST00000448629.2_5'Flank|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	32					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CACCCCCTGCGACCCTGAGGG	0.711																																																0													39	35	36					1																	1334592		2202	4300	6502	SO:0001583	missense	81669			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.95C>T	chr1.hg19:g.1334592G>A	ENSP00000383611:p.Ser32Leu		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	hg19	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	G	9.593	1.126618	0.20959	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	T;T	0.45668	1.45;0.89	2.66	1.69	0.24217	.	0.620701	0.13809	N	0.361266	T	0.34571	0.0902	L	0.50333	1.59	0.45762	D	0.998651	B;B;B;B	0.25390	0.076;0.038;0.076;0.125	B;B;B;B	0.16722	0.012;0.016;0.007;0.016	T	0.18461	-1.0336	10	0.48119	T	0.1	.	9.3386	0.38065	0.0:0.2214:0.7786:0.0	.	32;32;32;32	F2Z3J5;C9J148;Q96S94;Q96S94-2	.;.;CCNL2_HUMAN;.	L	32	ENSP00000383611:S32L;ENSP00000386158:S32L	ENSP00000383611:S32L	S	-	2	0	CCNL2	1324455	0.139000	0.22563	0.041000	0.18516	0.007000	0.05969	3.167000	0.50793	0.644000	0.30656	0.591000	0.81541	TCG		0.711	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		A	1334592	G	A	1334592	3	1	254	1	0	0	0	0	1	0	0	0	2934	1059	37	1	1537	1	CCNL2	1	1334592	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	136	1334592	247916029	2	15234											
PLEKHG5	57449	hgsc.bcm.edu	37	1	6528353	6528353	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:6528353C>T	ENST00000400915.3	-	21	2777	c.2711G>A	c.(2710-2712)cGa>cAa	p.R904Q	PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R848Q|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.R925Q|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R927Q|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R885Q|TNFRSF25_ENST00000461703.2_5'Flank|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R917Q|TNFRSF25_ENST00000348333.3_5'Flank|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R848Q|TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R848Q|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R848Q|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000351748.3_5'Flank|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R848Q|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R848Q	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	904					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGAAGGAACTCGTGGGGACTC	0.662																																																0													13	15	14					1																	6528353		2184	4290	6474	SO:0001583	missense	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2711G>A	chr1.hg19:g.6528353C>T	ENSP00000383706:p.Arg904Gln		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	hg19	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	C	0.669	-0.802826	0.02841	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	4.88	-8.23	0.01033	.	0.885603	0.10069	N	0.719935	T	0.21921	0.0528	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.13594	0.008;0.0;0.008;0.002	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.25984	-1.0116	10	0.11182	T	0.66	-0.2459	2.6352	0.04956	0.1692:0.3187:0.354:0.158	.	917;848;925;904	F5GZ21;O94827-4;O94827-2;O94827	.;.;.;PKHG5_HUMAN	Q	925;848;848;904;885;848;848;917;848;754;927;848	ENSP00000366977:R925Q;ENSP00000344570:R848Q;ENSP00000383704:R848Q;ENSP00000383706:R904Q;ENSP00000366961:R885Q;ENSP00000366957:R848Q;ENSP00000366954:R848Q;ENSP00000441445:R917Q;ENSP00000366966:R848Q;ENSP00000439625:R927Q;ENSP00000437710:R848Q	ENSP00000344570:R848Q	R	-	2	0	PLEKHG5	6450940	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.455000	0.02379	-1.208000	0.02634	-2.049000	0.00408	CGA		0.662	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		T	6528353	C	T	6528353	3	4	254	1	0	0	0	0	1	0	0	0	12075	884	31	1	485	1	PLEKHG5	1	6528353	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	5193761	6528353	242722268	3	15235											
THRAP3	9967	hgsc.bcm.edu	37	1	36748232	36748232	+	Missense_Mutation	SNP	G	G	A	rs148045717		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:36748232G>A	ENST00000354618.5	+	3	292	c.68G>A	c.(67-69)cGt>cAt	p.R23H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R23H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	23	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCAAGATCTCGTTCTCGTTCA	0.453			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124	110	114		68	5.8	1	1	dbSNP_134	114	0,8600		0,0,4300	no	missense	THRAP3	NM_005119.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	23/956	36748232	1,13005	2203	4300	6503	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.68G>A	chr1.hg19:g.36748232G>A	ENSP00000346634:p.Arg23His		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	hg19	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031760	0.93575	2.27E-4	0.0	ENSG00000054118	ENST00000354618;ENST00000469141;ENST00000478853	T;T	0.14766	2.48;2.48	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	T	0.36082	0.0954	L	0.55481	1.735	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.00986	-1.1490	10	0.72032	D	0.01	-8.0853	19.3309	0.94288	0.0:0.0:1.0:0.0	.	23	Q9Y2W1	TR150_HUMAN	H	23	ENSP00000346634:R23H;ENSP00000433825:R23H	ENSP00000346634:R23H	R	+	2	0	THRAP3	36520819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.473000	0.60196	2.880000	0.98712	0.650000	0.86243	CGT		0.453	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		A	36748232	G	A	36748232	3	1	254	1	0	0	0	0	1	0	0	0	15879	1145	40	1	70	1	THRAP3	1	36748232	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	30219879	36748232	212502389	4	15236											
MACF1	23499	hgsc.bcm.edu	37	1	39910503	39910503	+	Missense_Mutation	SNP	G	G	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:39910503G>C	ENST00000372915.3	+	79	19385	c.19298G>C	c.(19297-19299)aGa>aCa	p.R6433T	MACF1_ENST00000361689.2_Missense_Mutation_p.R4475T|MACF1_ENST00000545844.1_Missense_Mutation_p.R4475T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6571T|MACF1_ENST00000317713.7_Missense_Mutation_p.R4475T|MACF1_ENST00000289893.4_Missense_Mutation_p.R4977T|MACF1_ENST00000539005.1_Missense_Mutation_p.R4345T|MACF1_ENST00000564288.1_Missense_Mutation_p.R6534T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6433					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGGAAGAAAGAAAGGTACAG	0.418																																																0													105	96	99					1																	39910503		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19298G>C	chr1.hg19:g.39910503G>C	ENSP00000362006:p.Arg6433Thr		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.305218|5.305218	0.95601|0.95601	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.60920	.|0.15;0.15;0.15;0.15;0.15;0.15	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.80824|0.80824	0.4697|0.4697	M|M	0.85299|0.85299	2.745|2.745	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.997	T|T	0.81662|0.81662	-0.0831|-0.0831	5|10	.|0.87932	.|D	.|0	.|.	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|6433;4475	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	N|T	3478|4475;6433;4475;4475;4345;4977	.|ENSP00000439537:R4475T;ENSP00000362006:R6433T;ENSP00000354573:R4475T;ENSP00000313438:R4475T;ENSP00000444364:R4345T;ENSP00000289893:R4977T	.|ENSP00000289893:R4977T	K|R	+|+	3|2	2|0	MACF1|MACF1	39683090|39683090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.831000|7.831000	0.86748|0.86748	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		C	39910503	G	C	39910503	3	2	254	1	0	0	0	0	1	0	0	0	9146	942	33	4	19877	4	MACF1	1	39910503	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	3162271	39910503	209340118	5	15237											
ATP1A1	476	hgsc.bcm.edu	37	1	116931284	116931284	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:116931284G>A	ENST00000295598.5	+	6	778	c.526G>A	c.(526-528)Gag>Aag	p.E176K	ATP1A1_ENST00000537345.1_Missense_Mutation_p.E176K|ATP1A1_ENST00000369496.4_Missense_Mutation_p.E145K	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	176					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TCGAAATGGTGAGAAAATGAG	0.398																																																0													99	104	102					1																	116931284		2203	4300	6503	SO:0001583	missense	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.526G>A	chr1.hg19:g.116931284G>A	ENSP00000295598:p.Glu176Lys		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	hg19	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528363	0.85706	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.90069	-2.61;-2.61;-2.61	5.17	5.17	0.71159	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.048596	0.85682	D	0.000000	T	0.77671	0.4165	N	0.05351	-0.065	0.80722	D	1	B;B	0.25904	0.044;0.137	B;B	0.38803	0.124;0.282	T	0.75300	-0.3366	10	0.33940	T	0.23	.	18.8482	0.92215	0.0:0.0:1.0:0.0	.	176;176	F5H3A1;P05023	.;AT1A1_HUMAN	K	176;176;175;145	ENSP00000295598:E176K;ENSP00000445306:E176K;ENSP00000358508:E145K	ENSP00000295598:E176K	E	+	1	0	ATP1A1	116732807	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.657000	0.98554	2.676000	0.91093	0.655000	0.94253	GAG		0.398	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		A	116931284	G	A	116931284	3	1	254	1	0	0	0	0	1	0	0	0	1128	1291	45	2	564	2	ATP1A1	1	116931284	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	77020781	116931284	132319337	6	15238											
TDRD10	126668	hgsc.bcm.edu	37	1	154493835	154493835	+	Silent	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:154493835G>A	ENST00000368480.3	+	6	334	c.249G>A	c.(247-249)gtG>gtA	p.V83V	TDRD10_ENST00000368482.4_Silent_p.V83V			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	83	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCAGAAAGTGACACTTGCAA	0.502																																																0													139	147	144					1																	154493835		2203	4300	6503	SO:0001819	synonymous_variant	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.249G>A	chr1.hg19:g.154493835G>A			A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	ENST00000368480.3	hg19	CCDS41406.1																																																																																				0.502	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		A	154493835	G	A	154493835	2	1	254	1	0	0	0	0	0	0	0	1	15736	1277	45	2		2	TDRD10	1	154493835	Silent	SNP	G	TCGA-B3-4104-01A-01D-1458-08	37562551	154493835	94756786	7	15239											
LRRN2	10446	hgsc.bcm.edu	37	1	204587907	204587907	+	Missense_Mutation	SNP	C	C	T	rs371946869		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:204587907C>T	ENST00000367175.1	-	1	3426	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Missense_Mutation_p.R405H|LRRN2_ENST00000367176.3_Missense_Mutation_p.R405H|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	405	LRRCT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GACCGGGAGGCGCTGGAGGTC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		16007	0.0		0.0	False		,,,				2504	0.001															0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	41	46	44		1214,1214	4.6	1	1		44	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense	LRRN2	NM_006338.2,NM_201630.1	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	405/714,405/714	204587907	2,13004	2203	4300	6503	SO:0001583	missense	10446			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1214G>A	chr1.hg19:g.204587907C>T	ENSP00000356143:p.Arg405His		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	hg19	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070520	0.36566	0.0	2.33E-4	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.59502	0.26;0.26;0.26	5.69	4.59	0.56863	Cysteine-rich flanking region, C-terminal (1);	0.159801	0.29767	N	0.011250	T	0.36580	0.0972	N	0.08118	0	0.37294	D	0.90841	B	0.17465	0.022	B	0.09377	0.004	T	0.40059	-0.9583	10	0.66056	D	0.02	.	11.5883	0.50931	0.0:0.7898:0.1305:0.0797	.	405	O75325	LRRN2_HUMAN	H	405	ENSP00000356144:R405H;ENSP00000356145:R405H;ENSP00000356143:R405H	ENSP00000356143:R405H	R	-	2	0	LRRN2	202854530	0.939000	0.31865	1.000000	0.80357	0.940000	0.58332	1.848000	0.39309	2.684000	0.91462	0.557000	0.71058	CGC		0.662	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		T	204587907	C	T	204587907	3	4	254	1	0	0	0	0	1	0	0	0	9037	768	27	1	931	1	LRRN2	1	204587907	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	50094072	204587907	44662714	8	15240											
SLC26A9	115019	hgsc.bcm.edu	37	1	205888030	205888030	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:205888030C>T	ENST00000367135.3	-	19	2307	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	SLC26A9_ENST00000340781.4_Missense_Mutation_p.D732N|SLC26A9_ENST00000367134.2_Missense_Mutation_p.D732N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	732	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGACTGCGTCATGTATGCTG	0.517											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													310	292	298					1																	205888030		2203	4300	6503	SO:0001583	missense	115019			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2194G>A	chr1.hg19:g.205888030C>T	ENSP00000356103:p.Asp732Asn	2155	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	hg19	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484381	0.63962	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.90069	-2.61;-2.61;-2.61	5.2	5.2	0.72013	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.000000	0.85682	D	0.000000	D	0.95137	0.8424	M	0.84948	2.725	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95535	0.8607	10	0.72032	D	0.01	.	18.7233	0.91704	0.0:1.0:0.0:0.0	.	732;732	Q7LBE3;B1AVM8	S26A9_HUMAN;.	N	732	ENSP00000341682:D732N;ENSP00000356103:D732N;ENSP00000356102:D732N	ENSP00000341682:D732N	D	-	1	0	SLC26A9	204154653	1.000000	0.71417	0.271000	0.24616	0.102000	0.19082	6.298000	0.72763	2.584000	0.87258	0.563000	0.77884	GAC		0.517	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		T	205888030	C	T	205888030	3	4	254	1	0	0	0	0	1	0	0	0	14530	826	29	2	489	2	SLC26A9	1	205888030	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	1300123	205888030	43362591	9	15241											
ETAA1	54465	hgsc.bcm.edu	37	2	67631299	67631299	+	Silent	SNP	A	A	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:67631299A>G	ENST00000272342.5	+	5	1615	c.1485A>G	c.(1483-1485)caA>caG	p.Q495Q	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	495						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ACGAAATTCAAAATTGTATAG	0.279																																																0													20	22	22					2																	67631299		2126	4252	6378	SO:0001819	synonymous_variant	54465			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1485A>G	chr2.hg19:g.67631299A>G			Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	hg19	CCDS1882.1																																																																																				0.279	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		G	67631299	A	G	67631299	2	3	254	1	0	0	0	0	0	0	0	1	5269	11	1	3		3	ETAA1	2	67631299	Silent	SNP	A	TCGA-B3-4104-01A-01D-1458-08		67631299	175568074	10	15242											
CCDC108	255101	hgsc.bcm.edu	37	2	219886640	219886640	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:219886640C>T	ENST00000341552.5	-	18	3075	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	CCDC108_ENST00000441968.1_Missense_Mutation_p.E998K|CCDC108_ENST00000453220.1_Missense_Mutation_p.E998K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	998						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGCCAGCTCCTTTTCCTTT	0.597																																																0													103	108	106					2																	219886640		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2992G>A	chr2.hg19:g.219886640C>T	ENSP00000340776:p.Glu998Lys		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	hg19	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	9.157	1.017735	0.19355	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05199	3.48;3.48;3.48	4.89	3.11	0.35812	.	0.308243	0.23081	N	0.052148	T	0.08626	0.0214	M	0.67953	2.075	0.27209	N	0.959953	P	0.35656	0.514	B	0.37650	0.255	T	0.20107	-1.0285	10	0.12103	T	0.63	-17.3902	10.4801	0.44689	0.0:0.5718:0.3504:0.0778	.	998	Q6ZU64	CC108_HUMAN	K	998	ENSP00000340776:E998K;ENSP00000413377:E998K;ENSP00000409117:E998K	ENSP00000340776:E998K	E	-	1	0	CCDC108	219594884	0.378000	0.25114	0.953000	0.39169	0.255000	0.26057	0.327000	0.19663	0.289000	0.22422	-1.886000	0.00541	GAG		0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		T	219886640	C	T	219886640	3	4	254	1	0	0	0	0	1	0	0	0	2745	864	30	2	2857	2	CCDC108	2	219886640	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	152255341	219886640	23312733	11	15243											
EFHB	151651	hgsc.bcm.edu	37	3	19925989	19925989	+	Silent	SNP	G	G	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:19925989G>C	ENST00000295824.9	-	11	2213	c.2052C>G	c.(2050-2052)ctC>ctG	p.L684L	EFHB_ENST00000344838.4_Silent_p.L554L	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	684							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GAAGTGTCCGGAGAGTCTTTT	0.393																																																0													126	130	128					3																	19925989		2203	4300	6503	SO:0001819	synonymous_variant	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2052C>G	chr3.hg19:g.19925989G>C			A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	hg19	CCDS33715.2																																																																																				0.393	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		C	19925989	G	C	19925989	2	2	254	1	0	0	0	0	0	0	0	1	4947	1161	41	4		4	EFHB	3	19925989	Silent	SNP	G	TCGA-B3-4104-01A-01D-1458-08		19925989	178096441	12	15244											
COL6A6	131873	hgsc.bcm.edu	37	3	130287049	130287049	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:130287049G>A	ENST00000358511.6	+	5	2033	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D668N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	668	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D668N(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAGTTCAGCGACATCAATAA	0.423																																																1	Substitution - Missense(1)	large_intestine(1)											178	173	175					3																	130287049		1922	4127	6049	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2002G>A	chr3.hg19:g.130287049G>A	ENSP00000351310:p.Asp668Asn		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	4.358	0.066002	0.08388	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79749	-1.3;-1.3	5.53	-3.41	0.04839	von Willebrand factor, type A (3);	0.427722	0.21922	N	0.067159	T	0.71307	0.3324	L	0.50993	1.605	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.58335	-0.7654	10	0.38643	T	0.18	.	13.4535	0.61184	0.0599:0.6662:0.1805:0.0934	.	668	A6NMZ7	CO6A6_HUMAN	N	668	ENSP00000351310:D668N;ENSP00000399236:D668N	ENSP00000351310:D668N	D	+	1	0	COL6A6	131769739	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.129000	0.10515	-0.601000	0.05783	0.655000	0.94253	GAC		0.423	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		A	130287049	G	A	130287049	3	1	254	1	0	0	0	0	1	0	0	0	3705	1058	37	1	2020	1	COL6A6	3	130287049	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	110361060	130287049	67735381	13	15245											
FGFR3	2261	hgsc.bcm.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	1205	Substitution - Missense(1204)|Deletion - In frame(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	GRCh37	CM950470	FGFR3	M	rs121913483						13	16	15					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	chr4.hg19:g.1803568C>G	ENSP00000260795:p.Ser249Cys		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	hg19	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		G	1803568	C	G	1803568	3	3	254	1	0	0	0	0	1	0	0	0	5869	855	30	4	768	4	FGFR3	4	1803568	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08		1803568	189350708	14	15246											
UNC5C	8633	hgsc.bcm.edu	37	4	96127913	96127913	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:96127913G>T	ENST00000453304.1	-	11	2116	c.1768C>A	c.(1768-1770)Cct>Act	p.P590T		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	590	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.P590T(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCACCACAGGGGTCAAAAGT	0.537																																																1	Substitution - Missense(1)	lung(1)											50	49	50					4																	96127913		2203	4300	6503	SO:0001583	missense	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1768C>A	chr4.hg19:g.96127913G>T	ENSP00000406022:p.Pro590Thr		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	hg19	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471684	0.63737	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.56103	0.48;0.48	5.28	5.28	0.74379	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.71804	0.3383	M	0.90977	3.165	0.80722	D	1	P;B	0.49559	0.925;0.055	P;B	0.49561	0.615;0.021	T	0.80127	-0.1512	10	0.87932	D	0	.	19.2637	0.93979	0.0:0.0:1.0:0.0	.	590;590	A8K385;O95185	.;UNC5C_HUMAN	T	590;549;609	ENSP00000406022:P590T;ENSP00000426924:P609T	ENSP00000328673:P549T	P	-	1	0	UNC5C	96346936	1.000000	0.71417	0.971000	0.41717	0.843000	0.47879	7.884000	0.87274	2.611000	0.88343	0.563000	0.77884	CCT		0.537	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		T	96127913	G	T	96127913	3	4	254	1	0	0	0	0	1	0	0	0	16998	1232	43	4	1051	4	UNC5C	4	96127913	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	94324345	96127913	95026363	15	15247											
PCDHGA3	56112	hgsc.bcm.edu	37	5	140725009	140725009	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:140725009C>T	ENST00000253812.6	+	1	1409	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	470	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(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGCCTCCATCTTCTCA	0.547																																																0													116	132	127					5																	140725009		2135	4271	6406	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1409C>T	chr5.hg19:g.140725009C>T	ENSP00000253812:p.Ser470Phe		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	hg19	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	15.45	2.838553	0.51057	.	.	ENSG00000254245	ENST00000253812	T	0.02709	4.19	5.36	4.5	0.54988	Cadherin (3);Cadherin-like (1);	0.000000	0.33199	U	0.005170	T	0.09468	0.0233	M	0.64997	1.995	0.27060	N	0.963586	P;P	0.49358	0.734;0.923	P;P	0.56648	0.485;0.803	T	0.01566	-1.1323	10	0.72032	D	0.01	.	11.5922	0.50951	0.0:0.8506:0.0:0.1494	.	470;470	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	F	470	ENSP00000253812:S470F	ENSP00000253812:S470F	S	+	2	0	PCDHGA3	140705193	0.021000	0.18746	1.000000	0.80357	0.953000	0.61014	1.432000	0.34936	1.399000	0.46721	0.563000	0.77884	TCC		0.547	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725009	C	T	140725009	3	4	254	1	0	0	0	0	1	0	0	0	11557	855	30	2	1411	2	PCDHGA3	5	140725009	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08		140725009	40190251	16	15248											
CLINT1	9685	hgsc.bcm.edu	37	5	157240138	157240138	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:157240138C>G	ENST00000411809.2	-	5	654	c.450G>C	c.(448-450)aaG>aaC	p.K150N	CLINT1_ENST00000296951.5_Missense_Mutation_p.K132N|CLINT1_ENST00000523908.1_Missense_Mutation_p.K150N|CLINT1_ENST00000523094.1_Missense_Mutation_p.K132N|CLINT1_ENST00000530742.1_Missense_Mutation_p.K132N	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	150					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTTGCTTTCTTTCGCTCTT	0.423																																					Colon(22;427 587 2170 6147 14291)											0													217	207	210					5																	157240138		1913	4128	6041	SO:0001583	missense	9685			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.450G>C	chr5.hg19:g.157240138C>G	ENSP00000388340:p.Lys150Asn		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	hg19	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275997	0.59649	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.54279	0.6;0.6;0.6;0.6;0.58	5.88	4.05	0.47172	ENTH/VHS (1);	0.085100	0.85682	D	0.000000	T	0.67608	0.2911	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.989	T	0.64689	-0.6348	10	0.33141	T	0.24	-15.7865	9.2432	0.37509	0.0:0.7587:0.0:0.2413	.	150;150	B7Z6F8;Q14677	.;EPN4_HUMAN	N	132;132;150;132;150	ENSP00000429345:K132N;ENSP00000433419:K132N;ENSP00000388340:K150N;ENSP00000296951:K132N;ENSP00000429824:K150N	ENSP00000296951:K132N	K	-	3	2	CLINT1	157172716	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.312000	0.33574	0.753000	0.32945	0.655000	0.94253	AAG		0.423	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		G	157240138	C	G	157240138	3	3	254	1	0	0	0	0	1	0	0	0	3533	912	32	4	1459	4	CLINT1	5	157240138	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	16515129	157240138	23675122	17	15249											
OR14J1	442191	hgsc.bcm.edu	37	6	29274483	29274483	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:29274483C>T	ENST00000377160.2	+	1	81	c.17C>T	c.(16-18)tCa>tTa	p.S6L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AATTTGACTTCAATGAGTGGA	0.403																																																0													178	185	182					6																	29274483		1511	2709	4220	SO:0001583	missense	442191				CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"GPCR / Class A : Olfactory receptors"	13971	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily U, member 1"	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.17C>T	chr6.hg19:g.29274483C>T	ENSP00000366365:p.Ser6Leu		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	hg19	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	7.344	0.621483	0.14193	.	.	ENSG00000204695	ENST00000377160	T	0.00522	6.84	4.73	1.88	0.25563	.	0.481890	0.15328	N	0.268184	T	0.00073	0.0002	N	0.05414	-0.055	0.09310	N	1	B	0.25441	0.126	B	0.24701	0.055	T	0.08911	-1.0699	10	0.27785	T	0.31	.	4.4271	0.11509	0.1483:0.4819:0.288:0.0819	.	6	Q9UGF5	O14J1_HUMAN	L	6	ENSP00000366365:S6L	ENSP00000366365:S6L	S	+	2	0	OR14J1	29382462	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.295000	0.01143	0.263000	0.21812	0.655000	0.94253	TCA		0.403	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			T	29274483	C	T	29274483	3	4	254	1	0	0	0	0	1	0	0	0	10950	838	29	2	19	2	OR14J1	6	29274483	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08		29274483	141840584	18	15250											
BRD2	6046	hgsc.bcm.edu	37	6	32945959	32945959	+	Silent	SNP	C	C	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:32945959C>G	ENST00000374825.4	+	10	3336	c.1635C>G	c.(1633-1635)ccC>ccG	p.P545P	BRD2_ENST00000449085.2_Silent_p.P498P|BRD2_ENST00000374831.4_Silent_p.P545P|BRD2_ENST00000443797.2_Silent_p.P425P|BRD2_ENST00000395289.2_Silent_p.P545P|BRD2_ENST00000395287.1_Silent_p.P545P	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	545	Arg/Lys-rich (highly basic).				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						TATCCAAGCCCAAGAGGAAAA	0.463																																																0													38	46	43					6																	32945959		1508	2708	4216	SO:0001819	synonymous_variant	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1635C>G	chr6.hg19:g.32945959C>G			A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Silent	SNP	ENST00000374825.4	hg19	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342233	0.24339	.	.	ENSG00000204256	ENST00000449025	T	0.31247	1.5	5.35	-3.94	0.04130	.	0.000000	0.49916	D	0.000124	T	0.08403	0.0209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14924	-1.0455	7	0.18710	T	0.47	-14.208	4.8892	0.13719	0.4611:0.1625:0.0:0.3764	.	.	.	.	R	551	ENSP00000409613:P551R	ENSP00000409613:P551R	P	+	2	0	BRD2	33053937	0.103000	0.21917	0.943000	0.38184	0.899000	0.52679	-0.561000	0.05957	-0.702000	0.05056	-0.272000	0.10252	CCA		0.463	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			G	32945959	C	G	32945959	2	3	254	1	0	0	0	0	0	0	0	1	1504	581	21	4		4	BRD2	6	32945959	Silent	SNP	C	TCGA-B3-4104-01A-01D-1458-08	3671476	32945959	138169108	19	15251											
BRD2	6046	hgsc.bcm.edu	37	6	32947799	32947799	+	Nonsense_Mutation	SNP	C	C	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:32947799C>G	ENST00000374825.4	+	11	3737	c.2036C>G	c.(2035-2037)tCa>tGa	p.S679*	BRD2_ENST00000449085.2_Nonsense_Mutation_p.S632*|BRD2_ENST00000374831.4_Nonsense_Mutation_p.S679*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.S559*|BRD2_ENST00000395289.2_Nonsense_Mutation_p.S714*|BRD2_ENST00000395287.1_Nonsense_Mutation_p.S714*	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	679	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						TTACGTGATTCAAACCCAGAA	0.498																																																0													65	64	64					6																	32947799		1511	2709	4220	SO:0001587	stop_gained	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2036C>G	chr6.hg19:g.32947799C>G	ENSP00000363958:p.Ser679*		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Nonsense_Mutation	SNP	ENST00000374825.4	hg19	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	52|52	19.743137|19.743137	0.99923|0.99923	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.41605	.|D	.|0.000858	T|.	0.70055|.	0.3180|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.70457|.	-0.4866|.	3|.	.|0.52906	.|T	.|0.07	-14.2571|-14.2571	16.9633|16.9633	0.86278|0.86278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	685|679;679;714;559;714;632	.|.	.|ENSP00000363958:S679X	Q|S	+|+	1|2	0|0	BRD2|BRD2	33055777|33055777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.637000|7.637000	0.83313|0.83313	2.873000|2.873000	0.98535|0.98535	0.643000|0.643000	0.83706|0.83706	CAA|TCA		0.498	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			G	32947799	C	G	32947799	4	3	254	1	0	0	0	0	0	1	0	0	1504	838	29	4	2074	4	BRD2	6	32947799	Nonsense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	1840	32947799	138167268	20	15252											
SMPD2	6610	hgsc.bcm.edu	37	6	109763791	109763791	+	Frame_Shift_Del	DEL	C	C	-	rs534167199		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:109763791delC	ENST00000258052.3	+	6	813	c.454delC	c.(454-456)cgtfs	p.R152fs	PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	152					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.R152C(1)		endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CCTAGCACATCGTGTGGCCCA	0.537																																																1	Substitution - Missense(1)	endometrium(1)											169	147	154					6																	109763791		2203	4300	6503	SO:0001589	frameshift_variant	6610			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.454delC	chr6.hg19:g.109763791delC	ENSP00000258052:p.Arg152fs		Q5TED1|Q9BWR3	Frame_Shift_Del	DEL	ENST00000258052.3	hg19	CCDS5075.1																																																																																				0.537	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			-	109763791	C	-	109763791	7	5	254	1	0	1	0	1	0	0	0	0	14811	884	31	0	476	0	SMPD2	6	109763791	Frame_Shift_Del	DEL	C	TCGA-B3-4104-01A-01D-1458-08	76815992	109763791	61351276	21	15253											
CHRM2	1129	hgsc.bcm.edu	37	7	136700056	136700056	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:136700056G>T	ENST00000445907.2	+	3	972	c.444G>T	c.(442-444)tgG>tgT	p.W148C	CHRM2_ENST00000402486.3_Missense_Mutation_p.W148C|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.W148C|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.W148C|CHRM2_ENST00000401861.1_Missense_Mutation_p.W148C|CHRM2_ENST00000397608.3_Missense_Mutation_p.W148C|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	148					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAGCTGCCTGGGTCCTCTCTT	0.488																																																0													66	68	68					7																	136700056		2203	4300	6503	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.444G>T	chr7.hg19:g.136700056G>T	ENSP00000399745:p.Trp148Cys		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	hg19	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567740	0.65651	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97340	0.9130	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98748	1.0719	10	0.87932	D	0	-1.0967	19.7244	0.96157	0.0:0.0:1.0:0.0	.	148	P08172	ACM2_HUMAN	C	148	ENSP00000399745:W148C;ENSP00000415386:W148C;ENSP00000319984:W148C;ENSP00000380733:W148C;ENSP00000384937:W148C;ENSP00000384401:W148C	ENSP00000319984:W148C	W	+	3	0	CHRM2	136350596	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.659000	0.90383	0.655000	0.94253	TGG		0.488	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			T	136700056	G	T	136700056	3	4	254	1	0	0	0	0	1	0	0	0	3379	1241	43	4	446	4	CHRM2	7	136700056	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08		136700056	22438607	22	15254											
MLL3	58508	hgsc.bcm.edu	37	7	151879016	151879016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:151879016G>A	ENST00000262189.6	-	36	6147	c.5929C>T	c.(5929-5931)Caa>Taa	p.Q1977*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1977*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1977	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGGGAAATTGATCTGTCATC	0.458																																																0													215	223	220					7																	151879016		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5929C>T	chr7.hg19:g.151879016G>A	ENSP00000262189:p.Gln1977*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	hg19	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	47	13.696566	0.99758	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.37	4.49	0.54785	.	0.000000	0.42420	U	0.000717	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3796	0.44104	0.1499:0.0:0.8501:0.0	.	.	.	.	X	1977	.	ENSP00000262189:Q1977X	Q	-	1	0	MLL3	151509949	1.000000	0.71417	0.139000	0.22197	0.959000	0.62525	6.683000	0.74533	1.289000	0.44618	0.558000	0.71614	CAA		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151879016	G	A	151879016	4	1	254	1	0	0	0	0	0	1	0	0	9624	1299	45	2	8902	2	MLL3	7	151879016	Nonsense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	15178960	151879016	7259647	23	15255											
ERLIN2	11160	hgsc.bcm.edu	37	8	37597912	37597912	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr8:37597912G>A	ENST00000276461.5	+	3	204	c.137G>A	c.(136-138)gGc>gAc	p.G46D	ERLIN2_ENST00000397228.2_Missense_Mutation_p.G46D|ERLIN2_ENST00000523107.1_Missense_Mutation_p.G46D|ERLIN2_ENST00000519638.1_Missense_Mutation_p.G46D|ERLIN2_ENST00000523887.1_Missense_Mutation_p.G46D|RP11-863K10.7_ENST00000330539.1_5'Flank|ERLIN2_ENST00000518586.1_Missense_Mutation_p.G46D|ERLIN2_ENST00000335171.6_Missense_Mutation_p.G46D	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	46					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCGACCAGCGGCCCTGGTTTC	0.537																																																0													228	199	208					8																	37597912		2203	4300	6503	SO:0001583	missense	11160			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"chromosome 8 open reading frame 2", "SPFH domain family, member 2"	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.137G>A	chr8.hg19:g.37597912G>A	ENSP00000276461:p.Gly46Asp		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	hg19	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263471	0.80358	.	.	ENSG00000147475	ENST00000397228;ENST00000523887;ENST00000276461;ENST00000518586;ENST00000335171;ENST00000521644;ENST00000519638	D;D;D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43;-3.43;-3.43	5.91	5.91	0.95273	.	0.088984	0.85682	D	0.000000	D	0.95204	0.8445	L	0.45137	1.4	0.80722	D	1	D;B;B	0.58620	0.983;0.257;0.009	P;B;B	0.57502	0.822;0.162;0.029	D	0.94048	0.7315	10	0.37606	T	0.19	-17.7147	19.29	0.94095	0.0:0.0:1.0:0.0	.	46;46;46	O94905;O94905-3;O94905-2	ERLN2_HUMAN;.;.	D	46	ENSP00000380405:G46D;ENSP00000429903:G46D;ENSP00000276461:G46D;ENSP00000427847:G46D;ENSP00000335220:G46D;ENSP00000429621:G46D;ENSP00000428112:G46D	ENSP00000276461:G46D	G	+	2	0	ERLIN2	37717070	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.379000	0.97198	2.799000	0.96334	0.650000	0.86243	GGC		0.537	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		A	37597912	G	A	37597912	3	1	254	1	0	0	0	0	1	0	0	0	5235	1203	42	2	143	2	ERLIN2	8	37597912	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08		37597912	108766110	24	15256											
ST18	9705	hgsc.bcm.edu	37	8	53028901	53028901	+	Silent	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr8:53028901C>T	ENST00000276480.7	-	25	3620	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	979					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGCTCTTTCAGCAGACTTT	0.433																																																0													232	167	189					8																	53028901		2203	4300	6503	SO:0001819	synonymous_variant	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2937G>A	chr8.hg19:g.53028901C>T			Q17RY1	Silent	SNP	ENST00000276480.7	hg19	CCDS6149.1																																																																																				0.433	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			T	53028901	C	T	53028901	2	4	254	1	0	0	0	0	0	0	0	1	15217	813	29	2		2	ST18	8	53028901	Silent	SNP	C	TCGA-B3-4104-01A-01D-1458-08	15430989	53028901	93335121	25	15257											
TYRP1	7306	hgsc.bcm.edu	37	9	12704628	12704628	+	Missense_Mutation	SNP	C	C	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr9:12704628C>A	ENST00000388918.5	+	6	1313	c.1184C>A	c.(1183-1185)cCa>cAa	p.P395Q	TYRP1_ENST00000381136.2_Missense_Mutation_p.P105Q|TYRP1_ENST00000381137.2_Missense_Mutation_p.P104Q|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	395				PN -> SQ (in Ref. 7; CAA35820). {ECO:0000305}.	acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CATTTGTCTCCAAATGATCCT	0.443									Oculocutaneous Albinism																																							0													122	105	111					9																	12704628		2203	4300	6503	SO:0001583	missense	7306	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1184C>A	chr9.hg19:g.12704628C>A	ENSP00000373570:p.Pro395Gln		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	hg19	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173865	0.78452	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.99089	-5.41;-5.41;-5.41	5.5	5.5	0.81552	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98693	1.0697	10	0.72032	D	0.01	-20.7972	19.7537	0.96281	0.0:1.0:0.0:0.0	.	395	P17643	TYRP1_HUMAN	Q	104;395;105	ENSP00000370529:P104Q;ENSP00000373570:P395Q;ENSP00000370528:P105Q	ENSP00000370528:P105Q	P	+	2	0	TYRP1	12694628	1.000000	0.71417	0.999000	0.59377	0.634000	0.38068	7.370000	0.79589	2.736000	0.93811	0.591000	0.81541	CCA		0.443	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		A	12704628	C	A	12704628	3	1	254	1	0	0	0	0	1	0	0	0	16821	594	21	4	1202	4	TYRP1	9	12704628	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08		12704628	128508803	26	15258											
C9orf24	84688	hgsc.bcm.edu	37	9	34397497	34397497	+	Splice_Site	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr9:34397497C>T	ENST00000297623.2	-	1	333	c.135G>A	c.(133-135)ccG>ccA	p.P45P		NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	45					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TCCCACTTACCGGAGTCAGAA	0.522																																																0													125	117	120					9																	34397497		2203	4300	6503	SO:0001630	splice_region_variant	84688			BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"ciliated bronchial epithelium 1", "spermatid-specific manchette-related protein 1"					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.135+1G>A	chr9.hg19:g.34397497C>T			Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Silent	SNP	ENST00000297623.2	hg19	CCDS6554.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408871	0.42715	.	.	ENSG00000164972	ENST00000444429	.	.	.	5.44	4.53	0.55603	.	.	.	.	.	T	0.61739	0.2371	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59721	-0.7401	4	.	.	.	-0.9559	10.3744	0.44073	0.0:0.9067:0.0:0.0933	.	.	.	.	R	11	.	.	G	-	1	0	C9orf24	34387497	0.988000	0.35896	0.992000	0.48379	0.887000	0.51463	2.922000	0.48860	1.271000	0.44313	0.467000	0.42956	GGG		0.522	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169	Silent	T	34397497	C	T	34397497	5	4	254	1	0	0	0	0	0	0	1	0	2477	666	23	1	787	1	C9orf24	9	34397497	Splice_Site	SNP	C	TCGA-B3-4104-01A-01D-1458-08	21692869	34397497	106815934	27	15259											
ALDH1B1	219	hgsc.bcm.edu	37	9	38396007	38396007	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr9:38396007C>T	ENST00000377698.3	+	2	415	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	88					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GGAAGCCTTCCGCCTGGGGTC	0.677																																																0													62	67	65					9																	38396007		2203	4300	6503	SO:0001583	missense	219			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.262C>T	chr9.hg19:g.38396007C>T	ENSP00000366927:p.Arg88Cys		B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	hg19	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121727	0.37436	.	.	ENSG00000137124	ENST00000377698	T	0.77358	-1.09	5.61	2.7	0.31948	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.373330	0.22798	N	0.055518	T	0.71443	0.3340	M	0.67625	2.065	0.43377	D	0.995473	B	0.14012	0.009	B	0.18561	0.022	T	0.68349	-0.5432	10	0.87932	D	0	.	4.9629	0.14076	0.2807:0.5588:0.0:0.1605	.	88	P30837	AL1B1_HUMAN	C	88	ENSP00000366927:R88C	ENSP00000366927:R88C	R	+	1	0	ALDH1B1	38386007	0.002000	0.14202	0.982000	0.44146	0.995000	0.86356	-0.376000	0.07465	0.750000	0.32877	0.655000	0.94253	CGC		0.677	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			T	38396007	C	T	38396007	3	4	254	1	0	0	0	0	1	0	0	0	493	652	23	1	264	1	ALDH1B1	9	38396007	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	3998510	38396007	102817424	28	15260											
NEBL	10529	hgsc.bcm.edu	37	10	21309109	21309109	+	Silent	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr10:21309109G>A	ENST00000417816.2	-	3	539	c.186C>T	c.(184-186)ttC>ttT	p.F62F	NEBL_ENST00000377159.4_Silent_p.F28F	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	107					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCACCGTGGTGAAGGACTGCT	0.413																																																0													103	97	99					10																	21309109		2203	4300	6503	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.186C>T	chr10.hg19:g.21309109G>A			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000417816.2	hg19	CCDS7133.1																																																																																				0.413	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		A	21309109	G	A	21309109	2	1	254	1	0	0	0	0	0	0	0	1	10305	1281	45	2		2	NEBL	10	21309109	Silent	SNP	G	TCGA-B3-4104-01A-01D-1458-08		21309109	114225638	29	15261											
SGMS1	259230	hgsc.bcm.edu	37	10	52071078	52071078	+	Missense_Mutation	SNP	T	T	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr10:52071078T>C	ENST00000361781.2	-	9	1798	c.839A>G	c.(838-840)tAt>tGt	p.Y280C	SGMS1_ENST00000429490.1_Missense_Mutation_p.Y111C	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	286					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCTGTACAGATAGTCCCCACA	0.453																																																0													141	105	117					10																	52071078		2203	4300	6503	SO:0001583	missense	259230			AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"Sterile alpha motif (SAM) domain containing"	29799	protein-coding gene	gene with protein product		611573	"transmembrane protein 23"	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.839A>G	chr10.hg19:g.52071078T>C	ENSP00000354829:p.Tyr280Cys		Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	ENST00000361781.2	hg19	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171766	0.78452	.	.	ENSG00000198964	ENST00000412547;ENST00000361781;ENST00000429490	T	0.53206	0.63	5.87	4.68	0.58851	.	0.056539	0.64402	D	0.000001	T	0.65974	0.2743	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.968;0.988	T	0.69548	-0.5116	10	0.87932	D	0	-23.9233	11.1732	0.48584	0.1378:0.0:0.0:0.8622	.	111;286	B4DJU2;Q86VZ5	.;SMS1_HUMAN	C	80;280;111	ENSP00000354829:Y280C	ENSP00000354829:Y280C	Y	-	2	0	SGMS1	51741084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.058000	0.64300	2.371000	0.80710	0.533000	0.62120	TAT		0.453	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		C	52071078	T	C	52071078	3	2	254	1	0	0	0	0	1	0	0	0	14220	1406	49	3	414	3	SGMS1	10	52071078	Missense_Mutation	SNP	T	TCGA-B3-4104-01A-01D-1458-08	30761969	52071078	83463669	30	15262											
IDE	3416	hgsc.bcm.edu	37	10	94297234	94297234	+	Missense_Mutation	SNP	G	G	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr10:94297234G>C	ENST00000265986.6	-	2	228	c.172C>G	c.(172-174)Cct>Gct	p.P58A		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	58					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TTGTCTTCAGGAGACTTGGTA	0.388																																																0													216	192	200					10																	94297234		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.172C>G	chr10.hg19:g.94297234G>C	ENSP00000265986:p.Pro58Ala		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	hg19	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430602	0.25726	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.30448	1.53;1.53	5.58	5.58	0.84498	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.056903	0.64402	D	0.000001	T	0.20659	0.0497	N	0.14661	0.345	0.80722	D	1	B	0.13145	0.007	B	0.14578	0.011	T	0.09228	-1.0684	10	0.10902	T	0.67	-4.7075	19.5704	0.95409	0.0:0.0:1.0:0.0	.	58	P14735	IDE_HUMAN	A	58;44	ENSP00000265986:P58A;ENSP00000408850:P44A	ENSP00000265986:P58A	P	-	1	0	IDE	94287214	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.325000	0.96381	2.624000	0.88883	0.655000	0.94253	CCT		0.388	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		C	94297234	G	C	94297234	3	2	254	1	0	0	0	0	1	0	0	0	7495	1174	41	4	2983	4	IDE	10	94297234	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	42226156	94297234	41237513	31	15263											
RIC8A	60626	hgsc.bcm.edu	37	11	209483	209483	+	Missense_Mutation	SNP	T	T	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:209483T>A	ENST00000526104.1	+	3	1553	c.209T>A	c.(208-210)gTc>gAc	p.V70D	RIC8A_ENST00000325207.5_Missense_Mutation_p.V70D|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000325147.9_5'Flank|RIC8A_ENST00000527696.1_Missense_Mutation_p.V64D|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000486280.1_5'Flank|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000410108.1_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	70					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGCAGAGTGTCCGAATCCTG	0.642																																																0													83	79	80					11																	209483		2203	4300	6503	SO:0001583	missense	60626			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.209T>A	chr11.hg19:g.209483T>A	ENSP00000432008:p.Val70Asp		Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	hg19		.	.	.	.	.	.	.	.	.	.	T	31	5.086235	0.94100	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000531209;ENST00000528357;ENST00000530889;ENST00000527696	T;T;T;T	0.53423	0.7;0.7;0.62;0.7	4.32	4.32	0.51571	Armadillo-type fold (1);	0.242015	0.40302	N	0.001130	T	0.54983	0.1892	L	0.39898	1.24	0.53688	D	0.999973	D;P;P	0.58620	0.983;0.904;0.951	P;P;P	0.59761	0.807;0.863;0.784	T	0.59621	-0.7420	10	0.87932	D	0	-12.0203	13.3635	0.60669	0.0:0.0:0.0:1.0	.	64;70;70	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	D	70;70;70;46;74;64	ENSP00000432008:V70D;ENSP00000325941:V70D;ENSP00000433968:V74D;ENSP00000434833:V64D	ENSP00000325941:V70D	V	+	2	0	RIC8A	199483	1.000000	0.71417	0.975000	0.42487	0.986000	0.74619	7.525000	0.81892	1.906000	0.55180	0.459000	0.35465	GTC		0.642	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		A	209483	T	A	209483	3	1	254	1	0	0	0	0	1	0	0	0	13361	1667	58	5	219	5	RIC8A	11	209483	Missense_Mutation	SNP	T	TCGA-B3-4104-01A-01D-1458-08		209483	134797033	32	15264											
APLNR	187	hgsc.bcm.edu	37	11	57004337	57004337	+	Missense_Mutation	SNP	G	G	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:57004337G>C	ENST00000606794.1	-	1	338	c.142C>G	c.(142-144)Ctg>Gtg	p.L48V		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	48					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGAGCACCAGACCGTTGCCC	0.592																																																0													75	72	73					11																	57004337		2201	4296	6497	SO:0001583	missense	187			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.142C>G	chr11.hg19:g.57004337G>C	ENSP00000475344:p.Leu48Val			Missense_Mutation	SNP	ENST00000606794.1	hg19	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034103	0.35893	.	.	ENSG00000134817	ENST00000257254;ENST00000444275	T	0.77098	-1.07	5.25	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.088434	0.47455	D	0.000235	T	0.71417	0.3337	L	0.35593	1.075	0.37382	D	0.912064	P	0.43231	0.801	P	0.45610	0.487	T	0.74506	-0.3643	10	0.36615	T	0.2	-13.9545	12.6969	0.57010	0.0931:0.0:0.9069:0.0	.	48	P35414	APJ_HUMAN	V	48;13	ENSP00000257254:L48V	ENSP00000257254:L48V	L	-	1	2	APLNR	56760913	0.027000	0.19231	1.000000	0.80357	0.995000	0.86356	0.324000	0.19610	2.460000	0.83146	0.561000	0.74099	CTG		0.592	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		C	57004337	G	C	57004337	3	2	254	1	0	0	0	0	1	0	0	0	777	933	33	4	1004	4	APLNR	11	57004337	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	56794854	57004337	78002179	33	15265											
MS4A15	219995	hgsc.bcm.edu	37	11	60540926	60540926	+	Missense_Mutation	SNP	T	T	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:60540926T>A	ENST00000405633.3	+	5	546	c.467T>A	c.(466-468)aTt>aAt	p.I156N	MS4A15_ENST00000528170.1_Missense_Mutation_p.I115N|MS4A15_ENST00000337911.4_Missense_Mutation_p.I63N	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	156						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						GGGACAGCCATTCTGCTCATG	0.572																																																0													101	82	89					11																	60540926		2203	4300	6503	SO:0001583	missense	219995			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.467T>A	chr11.hg19:g.60540926T>A	ENSP00000386022:p.Ile156Asn		A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	hg19	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159477	0.78226	.	.	ENSG00000166961	ENST00000528170;ENST00000337911;ENST00000405633	T;T;T	0.02763	4.17;4.17;4.17	4.73	4.73	0.59995	.	0.564419	0.18877	N	0.128670	T	0.12433	0.0302	M	0.82132	2.575	0.32907	D	0.514004	D;D	0.61080	0.98;0.989	P;P	0.60345	0.873;0.837	T	0.06006	-1.0851	10	0.87932	D	0	-4.8067	10.6302	0.45532	0.0:0.0:0.0:1.0	.	115;156	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	N	115;63;156	ENSP00000434165:I115N;ENSP00000338692:I63N;ENSP00000386022:I156N	ENSP00000338692:I63N	I	+	2	0	MS4A15	60297502	0.968000	0.33430	0.979000	0.43373	0.987000	0.75469	2.143000	0.42187	1.772000	0.52199	0.454000	0.30748	ATT		0.572	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			A	60540926	T	A	60540926	3	1	254	1	0	0	0	0	1	0	0	0	9861	1493	52	5	481	5	MS4A15	11	60540926	Missense_Mutation	SNP	T	TCGA-B3-4104-01A-01D-1458-08	3536589	60540926	74465590	34	15266											
VWCE	220001	hgsc.bcm.edu	37	11	61026184	61026184	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:61026184G>A	ENST00000335613.5	-	20	3217	c.2831C>T	c.(2830-2832)cCa>cTa	p.P944L	VWCE_ENST00000535710.1_Missense_Mutation_p.P409L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	944						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCCCCCACTGGGGGCTGCTG	0.662																																																0													32	41	38					11																	61026184		2181	4260	6441	SO:0001583	missense	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2831C>T	chr11.hg19:g.61026184G>A	ENSP00000334186:p.Pro944Leu		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	hg19	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	7.159	0.585335	0.13749	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.68025	-0.3;3.56	4.57	2.7	0.31948	.	1.078380	0.07367	N	0.885042	T	0.43545	0.1252	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	10	0.48119	T	0.1	.	7.595	0.28044	0.2008:0.0:0.7992:0.0	.	944	Q96DN2	VWCE_HUMAN	L	944;409	ENSP00000334186:P944L;ENSP00000442570:P409L	ENSP00000334186:P944L	P	-	2	0	VWCE	60782760	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.128000	0.31369	0.478000	0.27488	-0.254000	0.11334	CCA		0.662	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		A	61026184	G	A	61026184	3	1	254	1	0	0	0	0	1	0	0	0	17250	1348	47	2	40	2	VWCE	11	61026184	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	485258	61026184	73980332	35	15267											
CORO1B	57175	hgsc.bcm.edu	37	11	67207603	67207603	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:67207603delC	ENST00000341356.5	-	8	1103	c.993delG	c.(991-993)aagfs	p.K331fs	CORO1B_ENST00000539724.1_Intron|CORO1B_ENST00000393893.1_Frame_Shift_Del_p.K331fs|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	331					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGATCTCGCACTTGCTGACCT	0.622																																																0													65	67	66					11																	67207603		2200	4295	6495	SO:0001589	frameshift_variant	57175			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.993delG	chr11.hg19:g.67207603delC	ENSP00000340211:p.Lys331fs		B2RD45	Frame_Shift_Del	DEL	ENST00000341356.5	hg19	CCDS8164.1																																																																																				0.622	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		-	67207603	C	-	67207603	7	5	254	1	0	1	0	1	0	0	0	0	3756	564	20	0	492	0	CORO1B	11	67207603	Frame_Shift_Del	DEL	C	TCGA-B3-4104-01A-01D-1458-08	6181419	67207603	67798913	36	15268											
STARD10	10809	hgsc.bcm.edu	37	11	72470333	72470333	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:72470333C>G	ENST00000334805.6	-	3	1220	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000538536.1_Missense_Mutation_p.E55Q|STARD10_ENST00000545082.1_Missense_Mutation_p.E72Q|STARD10_ENST00000543304.1_Missense_Mutation_p.E101Q|ARAP1_ENST00000359373.5_Intron	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	101	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TCAAAAGTCTCAATGACGTTG	0.562																																																0													138	143	141					11																	72470333		2184	4279	6463	SO:0001583	missense	10809			AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"StAR-related lipid transfer (START) domain containing"	10666	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 28", "START domain containing 10"	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.301G>C	chr11.hg19:g.72470333C>G	ENSP00000335247:p.Glu101Gln		O60532	Missense_Mutation	SNP	ENST00000334805.6	hg19	CCDS41688.1	.	.	.	.	.	.	.	.	.	.	C	36	5.751817	0.96890	.	.	ENSG00000214530	ENST00000537351;ENST00000543304;ENST00000334805;ENST00000538536;ENST00000545082;ENST00000544767;ENST00000537947;ENST00000536728;ENST00000542989;ENST00000546314;ENST00000539138;ENST00000535054	T;T;T;T;T;T;T;T;T;T;D;T	0.85088	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;-1.94;0.81	5.95	5.95	0.96441	Lipid-binding START (3);START-like domain (1);	0.062950	0.64402	U	0.000008	D	0.91126	0.7206	M	0.79805	2.47	0.58432	D	0.999995	P;P	0.52316	0.94;0.952	P;P	0.57720	0.591;0.826	D	0.88905	0.3355	10	0.28530	T	0.3	-28.7367	17.8792	0.88835	0.0:1.0:0.0:0.0	.	55;101	F5GY11;Q9Y365	.;PCTL_HUMAN	Q	8;101;101;55;72;32;101;32;101;101;72;55	ENSP00000445708:E8Q;ENSP00000438792:E101Q;ENSP00000335247:E101Q;ENSP00000440016:E55Q;ENSP00000443548:E72Q;ENSP00000438357:E32Q;ENSP00000445657:E101Q;ENSP00000442414:E32Q;ENSP00000443597:E101Q;ENSP00000445886:E101Q;ENSP00000441589:E72Q;ENSP00000440924:E55Q	ENSP00000335247:E101Q	E	-	1	0	STARD10	72147981	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.825000	0.97269	0.655000	0.94253	GAG		0.562	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397254.1			G	72470333	C	G	72470333	3	3	254	1	0	0	0	0	1	0	0	0	15260	835	29	4	594	4	STARD10	11	72470333	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	5262730	72470333	62536183	37	15269											
ARRB1	408	hgsc.bcm.edu	37	11	74985127	74985127	+	Missense_Mutation	SNP	G	G	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:74985127G>C	ENST00000420843.2	-	11	1002	c.905C>G	c.(904-906)tCt>tGt	p.S302C	ARRB1_ENST00000393505.4_Missense_Mutation_p.S302C|ARRB1_ENST00000360025.3_Missense_Mutation_p.S302C	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	302					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGGTGCTAGAGGCCAAGTT	0.602																																																0													263	213	230					11																	74985127		2200	4293	6493	SO:0001583	missense	408			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.905C>G	chr11.hg19:g.74985127G>C	ENSP00000409581:p.Ser302Cys		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	hg19	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125072	0.77436	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025	T;T;T	0.19250	2.16;2.16;2.16	4.51	4.51	0.55191	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.50633	0.1627	M	0.87827	2.91	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.71870	0.933;0.975	T	0.60712	-0.7209	10	0.72032	D	0.01	-10.6596	14.7321	0.69388	0.0:0.0:1.0:0.0	.	302;302	P49407-2;P49407	.;ARRB1_HUMAN	C	302	ENSP00000409581:S302C;ENSP00000377141:S302C;ENSP00000353124:S302C	ENSP00000353124:S302C	S	-	2	0	ARRB1	74662775	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.770000	0.98971	2.058000	0.61347	0.462000	0.41574	TCT		0.602	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		C	74985127	G	C	74985127	3	2	254	1	0	0	0	0	1	0	0	0	980	942	33	4	375	4	ARRB1	11	74985127	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	2514794	74985127	60021389	38	15270											
RAPGEF3	10411	hgsc.bcm.edu	37	12	48142257	48142257	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr12:48142257G>A	ENST00000449771.2	-	12	1311	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.S408F|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.S366F|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.S366F|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.S366F|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.S408F|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.S366F			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	408	Interaction with PDE3B.|N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATGAGCACTGGAATCTGGTCC	0.547																																																0													131	109	117					12																	48142257		2203	4300	6503	SO:0001583	missense	10411			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1223C>T	chr12.hg19:g.48142257G>A	ENSP00000395708:p.Ser408Phe		A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	hg19	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512216	0.85389	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	T;T;T;T;T;T;T	0.71579	-0.39;-0.4;-0.39;-0.39;-0.4;-0.58;-0.49	5.16	5.16	0.70880	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.662303	0.13744	N	0.365734	T	0.80210	0.4581	L	0.44542	1.39	0.58432	D	0.999999	D;D	0.89917	0.992;1.0	D;D	0.77557	0.937;0.99	T	0.79320	-0.1852	10	0.59425	D	0.04	.	16.511	0.84284	0.0:0.0:1.0:0.0	.	420;408	B7Z5J6;O95398	.;RPGF3_HUMAN	F	366;408;55;366;366;366;408;420;366;408	ENSP00000384521:S366F;ENSP00000395708:S408F;ENSP00000448619:S366F;ENSP00000171000:S366F;ENSP00000373864:S408F;ENSP00000448480:S366F;ENSP00000378764:S408F	ENSP00000171000:S366F	S	-	2	0	RAPGEF3	46428524	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.309000	0.78937	2.588000	0.87417	0.650000	0.86243	TCC		0.547	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		A	48142257	G	A	48142257	3	1	254	1	0	0	0	0	1	0	0	0	13051	1174	41	2	1616	2	RAPGEF3	12	48142257	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08		48142257	85709638	39	15271											
MLL2	8085	hgsc.bcm.edu	37	12	49425839	49425839	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr12:49425839G>A	ENST00000301067.7	-	39	12648	c.12649C>T	c.(12649-12651)Cag>Tag	p.Q4217*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4217	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGCTGCTGCTGAGGACTTAAG	0.622																																																0													29	33	32					12																	49425839		2083	4219	6302	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12649C>T	chr12.hg19:g.49425839G>A	ENSP00000301067:p.Gln4217*		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	53	20.787619	0.99934	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.89	4.89	0.63831	.	0.000000	0.34531	N	0.003897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7009	0.88294	0.0:0.0:1.0:0.0	.	.	.	.	X	4217	.	ENSP00000301067:Q4217X	Q	-	1	0	MLL2	47712106	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.491000	0.73649	2.662000	0.90505	0.655000	0.94253	CAG		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49425839	G	A	49425839	4	1	254	1	0	0	0	0	0	1	0	0	9623	1299	45	2	4028	2	MLL2	12	49425839	Nonsense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	1283582	49425839	84426056	40	15272											
MLL2	8085	hgsc.bcm.edu	37	12	49426526	49426526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr12:49426526G>A	ENST00000301067.7	-	39	11961	c.11962C>T	c.(11962-11964)Cag>Tag	p.Q3988*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3988	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3718*(1)									TGTTGTTGCTGAGGAGACAGT	0.532																																																1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											64	70	68					12																	49426526		2196	4296	6492	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11962C>T	chr12.hg19:g.49426526G>A	ENSP00000301067:p.Gln3988*		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	50	17.079656	0.99878	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.88	4.88	0.63580	.	0.000000	0.34652	N	0.003786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6695	0.88212	0.0:0.0:1.0:0.0	.	.	.	.	X	3988	.	ENSP00000301067:Q3988X	Q	-	1	0	MLL2	47712793	0.997000	0.39634	1.000000	0.80357	0.099000	0.18886	3.213000	0.51153	2.643000	0.89663	0.655000	0.94253	CAG		0.532	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49426526	G	A	49426526	4	1	254	1	0	0	0	0	0	1	0	0	9623	1299	45	2	4715	2	MLL2	12	49426526	Nonsense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	687	49426526	84425369	41	15273											
INSM2	84684	hgsc.bcm.edu	37	14	36005048	36005048	+	Silent	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:36005048C>T	ENST00000307169.3	+	1	1801	c.1590C>T	c.(1588-1590)tgC>tgT	p.C530C		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCAAGCACTGCCCGTCCACTT	0.627																																																0													31	34	33					14																	36005048		2200	4297	6497	SO:0001819	synonymous_variant	84684			AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"Zinc fingers, C2H2-type"	17539	protein-coding gene	gene with protein product	"mlt 1"	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1590C>T	chr14.hg19:g.36005048C>T			A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	ENST00000307169.3	hg19	CCDS9657.1																																																																																				0.627	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			T	36005048	C	T	36005048	2	4	254	1	0	0	0	0	0	0	0	1	7774	747	26	2		2	INSM2	14	36005048	Silent	SNP	C	TCGA-B3-4104-01A-01D-1458-08		36005048	71344492	42	15274											
FKBP3	2287	hgsc.bcm.edu	37	14	45603575	45603575	+	Silent	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:45603575G>A	ENST00000216330.3	-	2	495	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	FKBP3_ENST00000396062.3_Silent_p.L29L|FANCM_ENST00000542564.2_5'Flank|FANCM_ENST00000267430.5_5'Flank|FANCM_ENST00000556036.1_5'Flank			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	29					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TGTTCCTGCAGAAACTTGATA	0.652																																																0													85	76	79					14																	45603575		2203	4300	6503	SO:0001819	synonymous_variant	2287			M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"FK506-binding protein 3 (25kD)"			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.85C>T	chr14.hg19:g.45603575G>A			B2R4Q9|Q14317	Silent	SNP	ENST00000216330.3	hg19	CCDS9683.1																																																																																				0.652	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013		A	45603575	G	A	45603575	2	1	254	1	0	0	0	0	0	0	0	1	5911	933	33	2		2	FKBP3	14	45603575	Silent	SNP	G	TCGA-B3-4104-01A-01D-1458-08	9598527	45603575	61745965	43	15275											
ZFP36L1	677	hgsc.bcm.edu	37	14	69256349	69256349	+	Silent	SNP	C	C	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:69256349C>G	ENST00000439696.2	-	2	1219	c.918G>C	c.(916-918)ctG>ctC	p.L306L	ZFP36L1_ENST00000336440.3_Silent_p.L306L|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	306					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGAGCTGCTCAGGTAGCCCT	0.597											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													71	79	76					14																	69256349		2203	4300	6503	SO:0001819	synonymous_variant	677			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.918G>C	chr14.hg19:g.69256349C>G		1113	Q13851	Silent	SNP	ENST00000439696.2	hg19	CCDS9791.1																																																																																				0.597	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			G	69256349	C	G	69256349	2	3	254	1	0	0	0	0	0	0	0	1	17651	813	29	4		4	ZFP36L1	14	69256349	Silent	SNP	C	TCGA-B3-4104-01A-01D-1458-08	23652774	69256349	38093191	44	15276											
MLH3	27030	hgsc.bcm.edu	37	14	75514890	75514890	+	Missense_Mutation	SNP	G	G	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:75514890G>C	ENST00000556740.1	-	1	1504	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.S490C|MLH3_ENST00000556257.1_Missense_Mutation_p.S490C|MLH3_ENST00000380968.2_De_novo_Start_OutOfFrame|MLH3_ENST00000355774.2_Missense_Mutation_p.S490C			Q9UHC1	MLH3_HUMAN	mutL homolog 3	490					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.S490Y(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTCCAGGAAAGATTTTTTATG	0.378								Mismatch excision repair (MMR)																																								2	Substitution - Missense(2)	lung(2)											90	97	95					14																	75514890		2203	4299	6502	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1469C>G	chr14.hg19:g.75514890G>C	ENSP00000452316:p.Ser490Cys		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	hg19	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	6.646	0.487760	0.12641	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.83506	-1.63;-1.67;-1.73;-1.63	5.34	-0.28	0.12886	.	1.749140	0.02828	N	0.126415	T	0.81786	0.4896	L	0.56769	1.78	0.09310	N	0.999996	P;P	0.48503	0.911;0.761	P;B	0.47162	0.54;0.24	T	0.65705	-0.6103	10	0.54805	T	0.06	0.3633	2.4863	0.04600	0.2139:0.342:0.3276:0.1165	.	490;490	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	C	490	ENSP00000348020:S490C;ENSP00000238662:S490C;ENSP00000451540:S490C;ENSP00000452316:S490C	ENSP00000238662:S490C	S	-	2	0	MLH3	74584643	0.000000	0.05858	0.121000	0.21740	0.448000	0.32197	0.167000	0.16602	-0.075000	0.12798	-0.291000	0.09656	TCT		0.378	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		C	75514890	G	C	75514890	3	2	254	1	0	0	0	0	1	0	0	0	9620	942	33	4	2940	4	MLH3	14	75514890	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	6258541	75514890	31834650	45	15277											
GABRB3	2562	hgsc.bcm.edu	37	15	26793190	26793190	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:26793190G>C	ENST00000311550.5	-	9	1283	c.1172C>G	c.(1171-1173)tCa>tGa	p.S391*	GABRB3_ENST00000545868.1_Nonsense_Mutation_p.S306*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.S391*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.S320*|GABRB3_ENST00000541819.2_Nonsense_Mutation_p.S447*	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	391					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGATATTGCTGAATTCCTGGT	0.493																																																0													123	114	117					15																	26793190		2203	4300	6503	SO:0001587	stop_gained	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1172C>G	chr15.hg19:g.26793190G>C	ENSP00000308725:p.Ser391*		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Nonsense_Mutation	SNP	ENST00000311550.5	hg19	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176507	0.94846	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	.	.	.	5.82	4.9	0.64082	.	0.597023	0.16989	N	0.191371	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	13.4207	0.60996	0.0746:0.0:0.9254:0.0	.	.	.	.	X	391;447;391;320;306	.	ENSP00000299267:S391X	S	-	2	0	GABRB3	24344283	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.681000	0.61663	2.752000	0.94435	0.655000	0.94253	TCA		0.493	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			C	26793190	G	C	26793190	4	2	254	1	0	0	0	0	0	1	0	0	6170	1294	45	4	253	4	GABRB3	15	26793190	Nonsense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08		26793190	75738202	46	15278											
DMXL2	23312	hgsc.bcm.edu	37	15	51857284	51857284	+	Splice_Site	SNP	C	C	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:51857284C>A	ENST00000251076.5	-	4	652		c.e4+1		DMXL2_ENST00000449909.3_Splice_Site|DMXL2_ENST00000560421.1_Splice_Site|DMXL2_ENST00000543779.2_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTGCTAAATACCTTGAGGATC	0.294																																																0													26	26	26					15																	51857284		2194	4290	6484	SO:0001630	splice_region_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.364+1G>T	chr15.hg19:g.51857284C>A			B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	hg19	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052647	0.75960	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4422	0.90670	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49644576	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.430000	0.73391	2.419000	0.82065	0.655000	0.94253	.		0.294	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron	A	51857284	C	A	51857284	5	1	254	1	0	0	0	0	0	0	1	0	4597	521	18	4	8908	4	DMXL2	15	51857284	Splice_Site	SNP	C	TCGA-B3-4104-01A-01D-1458-08	25064094	51857284	50674108	47	15279											
CX3CL1	6376	hgsc.bcm.edu	37	16	57413597	57413597	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:57413597C>T	ENST00000006053.6	+	2	233	c.122C>T	c.(121-123)tCa>tTa	p.S41L	CX3CL1_ENST00000563383.1_Missense_Mutation_p.S47L|CX3CL1_ENST00000565912.1_Missense_Mutation_p.S3L|CX3CL1_ENST00000564948.1_Intron	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	41	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGATGACATCAAAGATACCT	0.517																																																0													180	130	147					16																	57413597		2198	4300	6498	SO:0001583	missense	6376			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.122C>T	chr16.hg19:g.57413597C>T	ENSP00000006053:p.Ser41Leu		O00672	Missense_Mutation	SNP	ENST00000006053.6	hg19	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296655	0.23650	.	.	ENSG00000006210	ENST00000006053	T	0.05199	3.48	3.0	0.929	0.19449	Chemokine interleukin-8-like domain (3);	2.900500	0.01491	N	0.017077	T	0.10551	0.0258	L	0.55103	1.725	0.09310	N	1	B	0.29862	0.259	B	0.35114	0.196	T	0.36744	-0.9735	10	0.87932	D	0	-27.7552	5.6639	0.17684	0.2253:0.5558:0.2189:0.0	.	41	P78423	X3CL1_HUMAN	L	41	ENSP00000006053:S41L	ENSP00000006053:S41L	S	+	2	0	CX3CL1	55971098	0.000000	0.05858	0.004000	0.12327	0.044000	0.14063	-1.476000	0.02333	0.302000	0.22762	0.460000	0.39030	TCA		0.517	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		T	57413597	C	T	57413597	3	4	254	1	0	0	0	0	1	0	0	0	4076	838	29	2	128	2	CX3CL1	16	57413597	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08		57413597	32941156	48	15280											
WDR59	79726	hgsc.bcm.edu	37	16	74990405	74990405	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:74990405G>A	ENST00000262144.6	-	3	338	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	WDR59_ENST00000562331.1_5'UTR	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	70										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AAGCTGTCATGAGGATTCCAC	0.468																																																0													106	94	98					16																	74990405		2198	4300	6498	SO:0001583	missense	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.208C>T	chr16.hg19:g.74990405G>A	ENSP00000262144:p.His70Tyr		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	hg19	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427353	0.96131	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.70282	-0.47	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.78049	2.395	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	T	0.76072	-0.3093	10	0.06236	T	0.91	-22.0166	20.8794	0.99867	0.0:0.0:1.0:0.0	.	70;70	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	Y	70;49	ENSP00000262144:H70Y	ENSP00000262144:H70Y	H	-	1	0	WDR59	73547906	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.410000	0.97335	2.941000	0.99782	0.655000	0.94253	CAT		0.468	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		A	74990405	G	A	74990405	3	1	254	1	0	0	0	0	1	0	0	0	17313	1290	45	2	2812	2	WDR59	16	74990405	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	17576808	74990405	15364348	49	15281											
ZDHHC7	55625	hgsc.bcm.edu	37	16	85010706	85010706	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:85010706C>T	ENST00000313732.4	-	7	1097	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.E286K|ZDHHC7_ENST00000569488.1_5'Flank	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	249					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						CTTACCGTCTCGTCGTTGCAT	0.448																																																0													162	149	153					16																	85010706		2199	4300	6499	SO:0001583	missense	55625			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.745G>A	chr16.hg19:g.85010706C>T	ENSP00000315604:p.Glu249Lys		D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	ENST00000313732.4	hg19	CCDS10950.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726803	0.96847	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.23552	1.9;1.9	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	L	0.57130	1.785	0.80722	D	1	P;D	0.71674	0.943;0.998	P;P	0.62184	0.674;0.899	T	0.26677	-1.0096	10	0.54805	T	0.06	-14.3722	19.2167	0.93781	0.0:1.0:0.0:0.0	.	286;249	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	K	249;286	ENSP00000315604:E249K;ENSP00000341681:E286K	ENSP00000315604:E249K	E	-	1	0	ZDHHC7	83568207	1.000000	0.71417	0.981000	0.43875	0.844000	0.47949	7.666000	0.83877	2.784000	0.95788	0.655000	0.94253	GAG		0.448	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		T	85010706	C	T	85010706	3	4	254	1	0	0	0	0	1	0	0	0	17625	893	31	1	189	1	ZDHHC7	16	85010706	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	10020301	85010706	5344047	50	15282											
ITGAE	3682	hgsc.bcm.edu	37	17	3659152	3659152	+	Missense_Mutation	SNP	A	A	T	rs376670383		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:3659152A>T	ENST00000263087.4	-	11	1309	c.1211T>A	c.(1210-1212)aTt>aAt	p.I404N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	404					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACTGAAGCCAATCTGTGCCAG	0.592																																					NSCLC(182;635 2928 8995 38788)											0													93	58	70					17																	3659152		2203	4300	6503	SO:0001583	missense	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1211T>A	chr17.hg19:g.3659152A>T	ENSP00000263087:p.Ile404Asn		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	hg19	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	A	9.577	1.122528	0.20877	.	.	ENSG00000083457	ENST00000263087	T	0.58358	0.34	4.49	2.07	0.26955	.	.	.	.	.	T	0.41143	0.1146	L	0.51422	1.61	0.22571	N	0.998974	P	0.34462	0.454	B	0.29785	0.107	T	0.28744	-1.0034	9	0.51188	T	0.08	.	5.4982	0.16815	0.6409:0.0:0.3591:0.0	.	404	P38570	ITAE_HUMAN	N	404	ENSP00000263087:I404N	ENSP00000263087:I404N	I	-	2	0	ITGAE	3605901	0.002000	0.14202	0.605000	0.28930	0.320000	0.28249	0.698000	0.25571	0.284000	0.22305	0.421000	0.28195	ATT		0.592	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		T	3659152	A	T	3659152	3	4	254	1	0	0	0	0	1	0	0	0	7887	101	4	5	2412	5	ITGAE	17	3659152	Missense_Mutation	SNP	A	TCGA-B3-4104-01A-01D-1458-08		3659152	77536058	51	15283											
TP53	7157	hgsc.bcm.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:7579415C>T	ENST00000269305.4	-	4	461	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*	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	91	Interaction with WWOX.		W -> C (in a sporadic cancer; 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.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)	TGACAGGGGCCAGGAGGGGGC	0.632		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	25	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Nonsense(7)	lung(7)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|prostate(1)|liver(1)											44	50	48					17																	7579415		2202	4299	6501	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.272G>A	chr17.hg19:g.7579415C>T	ENSP00000269305:p.Trp91*		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	Nonsense_Mutation	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911071	0.72983	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.08	4.08	0.47627	.	0.425160	0.22616	N	0.057766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1711	14.5887	0.68347	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000269305:W91X	W	-	2	0	TP53	7520140	0.997000	0.39634	0.998000	0.56505	0.633000	0.38033	-0.143000	0.10296	2.561000	0.86390	0.561000	0.74099	TGG		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7579415	C	T	7579415	4	4	254	1	0	0	0	0	0	1	0	0	16386	595	21	2	1030	2	TP53	17	7579415	Nonsense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	3920263	7579415	73615795	52	15284											
KRT13	3860	hgsc.bcm.edu	37	17	39659037	39659037	+	Missense_Mutation	SNP	T	T	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:39659037T>A	ENST00000246635.3	-	5	971	c.925A>T	c.(925-927)Acc>Tcc	p.T309S	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.T309S|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.T309S	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	309	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCAGTGTTGGTAGACACCTCC	0.577																																																0													216	195	202					17																	39659037		2203	4300	6503	SO:0001583	missense	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.925A>T	chr17.hg19:g.39659037T>A	ENSP00000246635:p.Thr309Ser		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	hg19	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	T	0.668	-0.803036	0.02841	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.76968	-1.06;-1.06	4.45	-3.03	0.05429	Filament (1);	0.306290	0.23211	N	0.050674	T	0.51058	0.1652	N	0.05124	-0.11	0.09310	N	1	B;B;B;B	0.15719	0.014;0.008;0.006;0.008	B;B;B;B	0.28305	0.053;0.088;0.03;0.088	T	0.47446	-0.9117	10	0.02654	T	1	.	12.9134	0.58192	0.301:0.0:0.0:0.699	.	297;309;309;309	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	S	309;309;297	ENSP00000246635:T309S;ENSP00000336604:T309S	ENSP00000157775:T297S	T	-	1	0	KRT13	36912563	0.000000	0.05858	0.056000	0.19401	0.751000	0.42716	-0.832000	0.04400	-0.336000	0.08438	0.391000	0.25812	ACC		0.577	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		A	39659037	T	A	39659037	3	1	254	1	0	0	0	0	1	0	0	0	8452	1638	57	5	467	5	KRT13	17	39659037	Missense_Mutation	SNP	T	TCGA-B3-4104-01A-01D-1458-08	32079622	39659037	41536173	53	15285											
DBF4B	80174	hgsc.bcm.edu	37	17	42828063	42828063	+	Silent	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:42828063C>T	ENST00000315005.3	+	14	1428	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	430					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCACAACCCTCCTGCCGGCCT	0.617																																																0													56	52	53					17																	42828063		2203	4300	6503	SO:0001819	synonymous_variant	80174			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1290C>T	chr17.hg19:g.42828063C>T			D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	hg19	CCDS11485.1																																																																																				0.617	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		T	42828063	C	T	42828063	2	4	254	1	0	0	0	0	0	0	0	1	4251	842	30	2		2	DBF4B	17	42828063	Silent	SNP	C	TCGA-B3-4104-01A-01D-1458-08	3169026	42828063	38367147	54	15286											
EPN3	55040	hgsc.bcm.edu	37	17	48615544	48615544	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:48615544G>A	ENST00000268933.3	+	3	1246	c.667G>A	c.(667-669)Gag>Aag	p.E223K	EPN3_ENST00000537145.1_Missense_Mutation_p.E278K|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_Missense_Mutation_p.E167K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	223						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CATGAGCCGTGAGGAGGCAGA	0.667																																																0													47	38	41					17																	48615544		2203	4300	6503	SO:0001583	missense	55040			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.667G>A	chr17.hg19:g.48615544G>A	ENSP00000268933:p.Glu223Lys		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	hg19	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925509	0.92319	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145;ENST00000541226;ENST00000411703	T;T;T	0.58060	2.08;1.24;0.36	4.54	4.54	0.55810	Ubiquitin interacting motif (3);	0.062476	0.64402	D	0.000007	T	0.73434	0.3586	M	0.79805	2.47	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.997;0.998;0.992	T	0.74408	-0.3675	10	0.35671	T	0.21	-20.981	17.345	0.87308	0.0:0.0:1.0:0.0	.	278;278;223	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	K	223;278;278;167;223	ENSP00000268933:E223K;ENSP00000439512:E278K;ENSP00000440540:E167K	ENSP00000268933:E223K	E	+	1	0	EPN3	45970543	1.000000	0.71417	0.861000	0.33841	0.595000	0.36748	9.783000	0.99037	2.247000	0.74100	0.456000	0.33151	GAG		0.667	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		A	48615544	G	A	48615544	3	1	254	1	0	0	0	0	1	0	0	0	5189	1291	45	2	673	2	EPN3	17	48615544	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	5787481	48615544	32579666	55	15287											
EPN3	55040	hgsc.bcm.edu	37	17	48616322	48616322	+	Missense_Mutation	SNP	G	G	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:48616322G>C	ENST00000268933.3	+	4	1338	c.759G>C	c.(757-759)gaG>gaC	p.E253D	EPN3_ENST00000537145.1_Intron|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_Intron	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	253						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AGGAGCACGAGAAGGTAGTGG	0.687																																																0													24	24	24					17																	48616322		2201	4299	6500	SO:0001583	missense	55040			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.759G>C	chr17.hg19:g.48616322G>C	ENSP00000268933:p.Glu253Asp		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	hg19	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204206	0.38905	.	.	ENSG00000049283	ENST00000268933;ENST00000411703	T	0.15256	2.44	4.5	3.51	0.40186	Ubiquitin interacting motif (2);	0.319926	0.29668	N	0.011504	T	0.12944	0.0314	L	0.42245	1.32	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.07309	-1.0779	10	0.11794	T	0.64	.	9.5827	0.39497	0.0:0.1552:0.684:0.1609	.	253	Q9H201	EPN3_HUMAN	D	253	ENSP00000268933:E253D	ENSP00000268933:E253D	E	+	3	2	EPN3	45971321	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	4.211000	0.58507	1.001000	0.39076	0.313000	0.20887	GAG		0.687	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		C	48616322	G	C	48616322	3	2	254	1	0	0	0	0	1	0	0	0	5189	933	33	4	769	4	EPN3	17	48616322	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	778	48616322	32578888	56	15288											
SPATA20	64847	hgsc.bcm.edu	37	17	48628090	48628090	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:48628090G>A	ENST00000356488.4	+	10	1230	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	SPATA20_ENST00000393244.3_Missense_Mutation_p.E339K|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Missense_Mutation_p.E399K	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	383					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTATAGCGCAGAAGATGCAGA	0.672											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													47	58	54					17																	48628090		2203	4299	6502	SO:0001583	missense	64847				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1147G>A	chr17.hg19:g.48628090G>A	ENSP00000348878:p.Glu383Lys	119	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	hg19	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393663	0.83011	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.30981	1.51;1.51;1.51	5.64	5.64	0.86602	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.68137	0.2968	H	0.95187	3.635	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.77557	0.99;0.964	T	0.77907	-0.2412	10	0.72032	D	0.01	-3.9451	16.6877	0.85314	0.0:0.1292:0.8708:0.0	.	383;399	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	K	399;383;339	ENSP00000006658:E399K;ENSP00000348878:E383K;ENSP00000376935:E339K	ENSP00000006658:E399K	E	+	1	0	SPATA20	45983089	1.000000	0.71417	0.953000	0.39169	0.342000	0.28953	7.988000	0.88194	2.664000	0.90586	0.655000	0.94253	GAA		0.672	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		A	48628090	G	A	48628090	3	1	254	1	0	0	0	0	1	0	0	0	15011	943	33	2	1237	2	SPATA20	17	48628090	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	11768	48628090	32567120	57	15289											
SPATA20	64847	hgsc.bcm.edu	37	17	48628385	48628385	+	Silent	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:48628385G>A	ENST00000356488.4	+	11	1445	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	SPATA20_ENST00000393244.3_Silent_p.Q410Q|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Silent_p.Q470Q	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	454					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGCAGGGCCAGAATGTGCTGA	0.637											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													37	42	40					17																	48628385		2203	4300	6503	SO:0001819	synonymous_variant	64847				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1362G>A	chr17.hg19:g.48628385G>A		119	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Silent	SNP	ENST00000356488.4	hg19	CCDS58563.1																																																																																				0.637	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		A	48628385	G	A	48628385	2	1	254	1	0	0	0	0	0	0	0	1	15011	933	33	2		2	SPATA20	17	48628385	Silent	SNP	G	TCGA-B3-4104-01A-01D-1458-08	295	48628385	32566825	58	15290											
TEX2	55852	hgsc.bcm.edu	37	17	62238165	62238165	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:62238165C>G	ENST00000583097.1	-	8	2972	c.2800G>C	c.(2800-2802)Gaa>Caa	p.E934Q	TEX2_ENST00000258991.3_Missense_Mutation_p.E941Q|TEX2_ENST00000584379.1_Missense_Mutation_p.E934Q			Q8IWB9	TEX2_HUMAN	testis expressed 2	934					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTTACCCTTCTTTGCCAATT	0.463																																																0													176	187	183					17																	62238165		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2800G>C	chr17.hg19:g.62238165C>G	ENSP00000462665:p.Glu934Gln		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.25	3.069164	0.55539	.	.	ENSG00000136478	ENST00000258991	T	0.50548	0.74	5.84	5.84	0.93424	.	0.096119	0.64402	D	0.000001	T	0.67711	0.2922	M	0.68952	2.095	0.80722	D	1	D;D	0.69078	0.997;0.962	D;P	0.65010	0.931;0.756	T	0.66464	-0.5917	10	0.52906	T	0.07	.	20.1386	0.98045	0.0:1.0:0.0:0.0	.	941;934	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	Q	941	ENSP00000258991:E941Q	ENSP00000258991:E941Q	E	-	1	0	TEX2	59591897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.767000	0.95098	0.561000	0.74099	GAA		0.463	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		G	62238165	C	G	62238165	3	3	254	1	0	0	0	0	1	0	0	0	15786	922	32	4	603	4	TEX2	17	62238165	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	13609780	62238165	18957045	59	15291											
SLC38A10	124565	hgsc.bcm.edu	37	17	79249777	79249777	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:79249777C>T	ENST00000374759.3	-	8	1287	c.904G>A	c.(904-906)Gag>Aag	p.E302K	SLC38A10_ENST00000288439.5_Missense_Mutation_p.E302K|SLC38A10_ENST00000546352.1_5'UTR	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	302					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACCTGCTGCTCACACAGCAGC	0.597																																																0													91	87	88					17																	79249777		2203	4300	6503	SO:0001583	missense	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.904G>A	chr17.hg19:g.79249777C>T	ENSP00000363891:p.Glu302Lys		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	hg19	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.510735	0.85389	.	.	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.02216	4.39;4.39	4.88	4.88	0.63580	.	0.239727	0.41396	D	0.000893	T	0.05456	0.0144	N	0.16567	0.415	0.58432	D	0.999998	B;D	0.89917	0.178;1.0	B;D	0.85130	0.054;0.997	T	0.65307	-0.6200	10	0.16420	T	0.52	-37.9351	17.6417	0.88138	0.0:1.0:0.0:0.0	.	302;302	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	K	302	ENSP00000363891:E302K;ENSP00000288439:E302K	ENSP00000288439:E302K	E	-	1	0	SLC38A10	76864372	1.000000	0.71417	0.929000	0.37066	0.845000	0.48019	7.379000	0.79691	2.244000	0.73946	0.655000	0.94253	GAG		0.597	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		T	79249777	C	T	79249777	3	4	254	1	0	0	0	0	1	0	0	0	14608	835	29	2	2769	2	SLC38A10	17	79249777	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	17011612	79249777	1945433	60	15292											
DSC2	1824	hgsc.bcm.edu	37	18	28660162	28660162	+	Missense_Mutation	SNP	G	G	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr18:28660162G>C	ENST00000280904.6	-	10	1863	c.1420C>G	c.(1420-1422)Cca>Gca	p.P474A	DSC2_ENST00000251081.6_Missense_Mutation_p.P474A	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	474	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTCTGTATTGGAGGGTTACAC	0.443																																																0													195	167	177					18																	28660162		2203	4300	6503	SO:0001583	missense	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1420C>G	chr18.hg19:g.28660162G>C	ENSP00000280904:p.Pro474Ala			Missense_Mutation	SNP	ENST00000280904.6	hg19	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	G	5.668	0.307878	0.10733	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.60548	0.18;0.18	5.92	-2.13	0.07144	Cadherin (3);Cadherin-like (1);	2.202610	0.03087	N	0.159213	T	0.31199	0.0789	N	0.11673	0.155	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.15052	0.005;0.012	T	0.20672	-1.0268	10	0.06365	T	0.9	.	4.1607	0.10282	0.1425:0.4668:0.1934:0.1973	.	474;474	Q02487;Q02487-2	DSC2_HUMAN;.	A	474;474;240;487	ENSP00000251081:P474A;ENSP00000280904:P474A	ENSP00000251081:P474A	P	-	1	0	DSC2	26914160	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-0.336000	0.07863	-0.382000	0.07870	-0.150000	0.13652	CCA		0.443	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		C	28660162	G	C	28660162	3	2	254	1	0	0	0	0	1	0	0	0	4768	1174	41	4	1353	4	DSC2	18	28660162	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08		28660162	49417086	61	15293											
C19orf21	126353	hgsc.bcm.edu	37	19	757669	757669	+	Silent	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:757669C>T	ENST00000215582.6	+	2	826	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	241					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ACCTGGCCAACGGGCACGTGG	0.672																																																0													24	27	26					19																	757669		2203	4300	6503	SO:0001819	synonymous_variant	126353			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.723C>T	chr19.hg19:g.757669C>T				Silent	SNP	ENST00000215582.6	hg19	CCDS12042.1																																																																																				0.672	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		T	757669	C	T	757669	2	4	254	1	0	0	0	0	0	0	0	1	1915	535	19	1		1	C19orf21	19	757669	Silent	SNP	C	TCGA-B3-4104-01A-01D-1458-08		757669	58371314	62	15294											
PIK3R2	5296	hgsc.bcm.edu	37	19	18279617	18279617	+	Silent	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:18279617G>A	ENST00000593731.1	+	15	2450	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	PIK3R2_ENST00000222254.8_Silent_p.T630T			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	630	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	TCAACCGCACGCAGGCAGAGG	0.657											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													75	48	57					19																	18279617		2203	4300	6503	SO:0001819	synonymous_variant	5296				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1890G>A	chr19.hg19:g.18279617G>A		724	Q5EAT5|Q9UPH9	Silent	SNP	ENST00000593731.1	hg19	CCDS12371.1																																																																																				0.657	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		A	18279617	G	A	18279617	2	1	254	1	0	0	0	0	0	0	0	1	11921	1074	38	1		1	PIK3R2	19	18279617	Silent	SNP	G	TCGA-B3-4104-01A-01D-1458-08	17521948	18279617	40849366	63	15295											
PRR12	57479	hgsc.bcm.edu	37	19	50099849	50099849	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:50099849G>A	ENST00000418929.2	+	4	2269	c.2257G>A	c.(2257-2259)Gcc>Acc	p.A753T		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGGCAGGCGCCAAGGAGCT	0.692																																																0													9	11	10					19																	50099849		1883	4040	5923	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2257G>A	chr19.hg19:g.50099849G>A	ENSP00000394510:p.Ala753Thr		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	hg19	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	7.112	0.576277	0.13686	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.56	3.56	0.40772	.	.	.	.	.	T	0.33177	0.0854	.	.	.	0.26879	N	0.967589	D	0.61080	0.989	P	0.48552	0.581	T	0.06516	-1.0822	7	0.23891	T	0.37	.	10.6184	0.45465	0.0:0.197:0.803:0.0	.	753	Q9ULL5-3	.	T	753	.	ENSP00000394510:A753T	A	+	1	0	PRR12	54791661	0.998000	0.40836	1.000000	0.80357	0.271000	0.26615	1.743000	0.38258	2.001000	0.58596	0.313000	0.20887	GCC		0.692	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		A	50099849	G	A	50099849	3	1	254	1	0	0	0	0	1	0	0	0	12589	1087	38	1	2271	1	PRR12	19	50099849	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	31820232	50099849	9029134	64	15296											
CPXM1	56265	hgsc.bcm.edu	37	20	2775058	2775058	+	Missense_Mutation	SNP	C	C	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr20:2775058C>A	ENST00000380605.2	-	14	2047	c.1983G>T	c.(1981-1983)tgG>tgT	p.W661C		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	661					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCAGCAGACGCCAATAATCCC	0.597																																																0													56	55	55					20																	2775058		2203	4300	6503	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1983G>T	chr20.hg19:g.2775058C>A	ENSP00000369979:p.Trp661Cys		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	hg19	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.099189	0.76983	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.41758	0.99	5.12	5.12	0.69794	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.76399	0.3982	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84208	0.0454	10	0.87932	D	0	-16.2562	16.4323	0.83853	0.0:1.0:0.0:0.0	.	661	Q96SM3	CPXM1_HUMAN	C	661;357	ENSP00000369979:W661C	ENSP00000369979:W661C	W	-	3	0	CPXM1	2723058	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.560000	0.82277	2.821000	0.97095	0.651000	0.88453	TGG		0.597	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		A	2775058	C	A	2775058	3	1	254	1	0	0	0	0	1	0	0	0	3839	740	26	4	225	4	CPXM1	20	2775058	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08		2775058	60250462	65	15297											
CTCFL	140690	hgsc.bcm.edu	37	20	56090811	56090811	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr20:56090811C>G	ENST00000608263.1	-	5	1800	c.1139G>C	c.(1138-1140)aGa>aCa	p.R380T	CTCFL_ENST00000608425.1_Missense_Mutation_p.R380T|CTCFL_ENST00000608903.1_Missense_Mutation_p.R118T|CTCFL_ENST00000429804.3_Missense_Mutation_p.R380T|CTCFL_ENST00000422869.2_Missense_Mutation_p.R380T|CTCFL_ENST00000371196.2_Missense_Mutation_p.R380T|CTCFL_ENST00000502686.2_Missense_Mutation_p.R118T|CTCFL_ENST00000243914.3_Missense_Mutation_p.R380T|CTCFL_ENST00000433949.3_Missense_Mutation_p.R175T|CTCFL_ENST00000423479.3_Missense_Mutation_p.R380T|CTCFL_ENST00000608440.1_Missense_Mutation_p.R380T|CTCFL_ENST00000539382.1_Missense_Mutation_p.R175T|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000609232.1_Missense_Mutation_p.R380T|CTCFL_ENST00000608858.1_5'UTR	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	380					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTAGGTATCTCTGCTGGCATA	0.483																																																0													175	165	169					20																	56090811		2203	4300	6503	SO:0001583	missense	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1139G>C	chr20.hg19:g.56090811C>G	ENSP00000476783:p.Arg380Thr		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	hg19	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933464	0.34096	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.27557	2.51;2.51;2.51;1.66;2.51;2.51;1.66;2.51;2.51;2.51	5.24	0.214	0.15249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.465807	0.17788	N	0.161995	T	0.20700	0.0498	N	0.16016	0.355	0.35738	D	0.818477	B;P;B;P;P	0.43231	0.016;0.801;0.056;0.801;0.801	B;B;B;P;P	0.49012	0.038;0.412;0.088;0.598;0.598	T	0.18398	-1.0338	10	0.12103	T	0.63	-30.8232	9.21	0.37313	0.0:0.5082:0.0:0.4918	.	380;380;380;380;380	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	T	380;380;380;380;380;118;380;380;175;380	ENSP00000415579:R380T;ENSP00000243914:R380T;ENSP00000360239:R380T;ENSP00000415329:R380T;ENSP00000392034:R380T;ENSP00000437999:R118T;ENSP00000413713:R380T;ENSP00000403369:R380T;ENSP00000439998:R175T;ENSP00000399061:R380T	ENSP00000243914:R380T	R	-	2	0	CTCFL	55524217	0.986000	0.35501	0.791000	0.31998	0.533000	0.34776	0.574000	0.23714	0.045000	0.15804	-0.312000	0.09012	AGA		0.483	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		G	56090811	C	G	56090811	3	3	254	1	0	0	0	0	1	0	0	0	4003	913	32	4	876	4	CTCFL	20	56090811	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08	53315753	56090811	6934709	66	15298											
ZBTB46	140685	hgsc.bcm.edu	37	20	62407208	62407208	+	Silent	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr20:62407208G>A	ENST00000245663.4	-	3	1195	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	ZBTB46_ENST00000302995.2_Silent_p.L349L|ZBTB46_ENST00000395104.1_Silent_p.L349L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	349					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGAGGGCCCAGATAGCTGGCT	0.662																																																0													56	58	57					20																	62407208		2203	4300	6503	SO:0001819	synonymous_variant	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1045C>T	chr20.hg19:g.62407208G>A			E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	hg19	CCDS13538.1																																																																																				0.662	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		A	62407208	G	A	62407208	2	1	254	1	0	0	0	0	0	0	0	1	17552	933	33	2		2	ZBTB46	20	62407208	Silent	SNP	G	TCGA-B3-4104-01A-01D-1458-08	6316397	62407208	618312	67	15299											
PICK1	9463	hgsc.bcm.edu	37	22	38470965	38470965	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:38470965C>G	ENST00000404072.3	+	13	1421	c.1074C>G	c.(1072-1074)ttC>ttG	p.F358L	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.F358L	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	358					ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CCGACGTCTTCCCCATCGAGG	0.607																																																0													106	74	85					22																	38470965		2203	4300	6503	SO:0001583	missense	9463			AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.1074C>G	chr22.hg19:g.38470965C>G	ENSP00000385205:p.Phe358Leu		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	hg19	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273750	0.80580	.	.	ENSG00000100151	ENST00000404072;ENST00000356976	T;T	0.37411	1.2;1.2	4.33	3.21	0.36854	.	0.047493	0.85682	N	0.000000	T	0.55800	0.1943	M	0.81497	2.545	0.58432	D	0.999998	D	0.63880	0.993	D	0.68192	0.956	T	0.59726	-0.7400	10	0.72032	D	0.01	-17.1105	8.2306	0.31595	0.0:0.7398:0.162:0.0982	.	358	Q9NRD5	PICK1_HUMAN	L	358	ENSP00000385205:F358L;ENSP00000349465:F358L	ENSP00000349465:F358L	F	+	3	2	PICK1	36800911	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.142000	0.42177	2.124000	0.65301	0.561000	0.74099	TTC		0.607	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		G	38470965	C	G	38470965	3	3	254	1	0	0	0	0	1	0	0	0	11883	854	30	4	1120	4	PICK1	22	38470965	Missense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08		38470965	12833601	68	15300											
MKL1	57591	hgsc.bcm.edu	37	22	40814967	40814967	+	Missense_Mutation	SNP	G	G	A	rs199908950		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:40814967G>A	ENST00000355630.3	-	12	2065	c.1475C>T	c.(1474-1476)tCg>tTg	p.S492L	MKL1_ENST00000396617.3_Missense_Mutation_p.S492L|MKL1_ENST00000402042.1_Missense_Mutation_p.S442L|MKL1_ENST00000407029.1_Missense_Mutation_p.S492L	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	492					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGCAGTGGCGAGGCCTGCAG	0.677			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													29	30	30					22																	40814967		2200	4299	6499	SO:0001583	missense	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1475C>T	chr22.hg19:g.40814967G>A	ENSP00000347847:p.Ser492Leu		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	hg19	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036393	0.75617	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.69040	-0.29;-0.37;-0.36;-0.29	5.15	5.15	0.70609	.	0.061993	0.64402	D	0.000003	D	0.86163	0.5867	M	0.92367	3.3	0.52099	D	0.999946	B;D;D	0.76494	0.255;0.999;0.999	B;D;D	0.72625	0.024;0.978;0.978	D	0.88893	0.3347	10	0.62326	D	0.03	-16.568	18.819	0.92089	0.0:0.0:1.0:0.0	.	442;492;492	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	L	492;492;442;492	ENSP00000347847:S492L;ENSP00000379861:S492L;ENSP00000385584:S442L;ENSP00000385835:S492L	ENSP00000347847:S492L	S	-	2	0	MKL1	39144913	1.000000	0.71417	0.515000	0.27774	0.937000	0.57800	6.783000	0.75078	2.676000	0.91093	0.591000	0.81541	TCG		0.677	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		A	40814967	G	A	40814967	3	1	254	1	0	0	0	0	1	0	0	0	9603	1059	37	1	1336	1	MKL1	22	40814967	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	2344002	40814967	10489599	69	15301											
PARVB	29780	hgsc.bcm.edu	37	22	44564537	44564537	+	Silent	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:44564537C>T	ENST00000338758.7	+	13	1137	c.1074C>T	c.(1072-1074)acC>acT	p.T358T	PARVB_ENST00000406477.3_Silent_p.T391T|PARVB_ENST00000404989.1_Silent_p.T321T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	358	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				ACCTGTTCACCAAGTACAAGA	0.552																																																0													99	92	94					22																	44564537		2203	4300	6503	SO:0001819	synonymous_variant	29780			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.1074C>T	chr22.hg19:g.44564537C>T			B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	ENST00000338758.7	hg19	CCDS14056.1																																																																																				0.552	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		T	44564537	C	T	44564537	2	4	254	1	0	0	0	0	0	0	0	1	11471	581	21	2		2	PARVB	22	44564537	Silent	SNP	C	TCGA-B3-4104-01A-01D-1458-08	3749570	44564537	6740029	70	15302											
CELSR1	9620	hgsc.bcm.edu	37	22	46930992	46930992	+	Silent	SNP	G	G	A	rs529594359		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:46930992G>A	ENST00000262738.3	-	1	2075	c.2076C>T	c.(2074-2076)taC>taT	p.Y692Y	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Silent_p.Y692Y	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	692	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACGAAGCTCGTAGGTGGGCT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0															0													44	28	34					22																	46930992		2201	4298	6499	SO:0001819	synonymous_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2076C>T	chr22.hg19:g.46930992G>A			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	hg19	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	3.230	-0.157692	0.06544	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.51	1.53	0.23141	.	.	.	.	.	T	0.55689	0.1936	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48479	-0.9032	4	.	.	.	.	8.3078	0.32053	0.4017:0.0:0.5983:0.0	.	.	.	.	M	67	.	.	T	-	2	0	CELSR1	45309656	0.873000	0.30073	0.986000	0.45419	0.599000	0.36880	-0.092000	0.11129	0.459000	0.27016	0.305000	0.20034	ACG		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46930992	G	A	46930992	2	1	254	1	0	0	0	0	0	0	0	1	3223	1140	40	1		1	CELSR1	22	46930992	Silent	SNP	G	TCGA-B3-4104-01A-01D-1458-08	2366455	46930992	4373574	71	15303											
STAG2	10735	hgsc.bcm.edu	37	X	123176469	123176469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chrX:123176469C>T	ENST00000371160.1	+	7	726	c.436C>T	c.(436-438)Cga>Tga	p.R146*	STAG2_ENST00000371157.3_Nonsense_Mutation_p.R146*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R146*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R146*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R77*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R146*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	146					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGAGATAATTCGAAAAATGAC	0.284																																																0													79	75	76					X																	123176469		2203	4300	6503	SO:0001587	stop_gained	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.436C>T	chrX.hg19:g.123176469C>T	ENSP00000360202:p.Arg146*		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	hg19	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683809	0.88639	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215	.	.	.	5.74	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.2847	12.9796	0.58555	0.2934:0.7066:0.0:0.0	.	.	.	.	X	146;146;77;146;146;146;146;146;146;146	.	ENSP00000218089:R146X	R	+	1	2	STAG2	123004150	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.312000	0.33574	1.156000	0.42514	0.522000	0.50473	CGA		0.284	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123176469	C	T	123176469	4	4	254	1	0	0	0	0	0	1	0	0	15248	876	31	1	454	1	STAG2	23	123176469	Nonsense_Mutation	SNP	C	TCGA-B3-4104-01A-01D-1458-08		123176469	32094091	72	15304											
IL9R	3581	hgsc.bcm.edu	37	X	155232601	155232601	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chrX:155232601G>A	ENST00000244174.5	+	2	238	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	IL9R_ENST00000540897.1_Missense_Mutation_p.R57Q|IL9R_ENST00000369423.2_Missense_Mutation_p.R67Q|IL9R_ENST00000424344.3_5'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	20					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCCTGAGGCGAGACATGGGC	0.612																																																0								G	GLN/ARG	1,4405		0,1,2202	164	163	163		59	-2.3	0	X		163	0,8592		0,0,4296	no	missense	IL9R	NM_002186.2	43	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	20/522	155232601	1,12997	2203	4296	6499	SO:0001583	missense	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.59G>A	chrX.hg19:g.155232601G>A	ENSP00000244174:p.Arg20Gln		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	hg19	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	g	5.676	0.309355	0.10733	2.27E-4	0.0	ENSG00000124334	ENST00000244174;ENST00000369423;ENST00000540897	T;T;T	0.22743	2.98;1.94;1.94	1.18	-2.35	0.06684	.	4.396220	0.00735	N	0.000961	T	0.09512	0.0234	.	.	.	0.09310	N	1	B;B	0.28419	0.021;0.211	B;B	0.10450	0.002;0.005	T	0.11324	-1.0592	9	0.13108	T	0.6	-13.6917	3.8243	0.08848	0.2084:0.4817:0.3099:0.0	.	20;67	Q01113;B9ZVT0	IL9R_HUMAN;.	Q	20;67;57	ENSP00000244174:R20Q;ENSP00000358431:R67Q;ENSP00000438112:R57Q	ENSP00000244174:R20Q	R	+	2	0	IL9R	154885795	0.000000	0.05858	0.000000	0.03702	0.739000	0.42172	-0.677000	0.05215	-1.521000	0.01771	-0.733000	0.03571	CGA		0.612	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		A	155232601	G	A	155232601	3	1	254	1	0	0	0	0	1	0	0	0	7710	1058	37	1	65	1	IL9R	23	155232601	Missense_Mutation	SNP	G	TCGA-B3-4104-01A-01D-1458-08	32056132	155232601	37959	73	15305											
S100PBP	64766	hgsc.bcm.edu	37	1	33292114	33292114	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr1:33292114delA	ENST00000373475.5	+	3	668	c.414delA	c.(412-414)gtafs	p.V138fs	S100PBP_ENST00000398243.3_Frame_Shift_Del_p.V138fs|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Frame_Shift_Del_p.V138fs	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GACGCTCTGTACTAGAAAAGA	0.413																																																0													55	56	56					1																	33292114		2203	4300	6503	SO:0001589	frameshift_variant	64766			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.414delA	chr1.hg19:g.33292114delA	ENSP00000362574:p.Val138fs			Frame_Shift_Del	DEL	ENST00000373475.5	hg19	CCDS30666.1																																																																																				0.413	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		-	33292114	A	-	33292114	7	5	255	1	0	1	0	1	0	0	0	0	13797	378	14	0	416	0	S100PBP	1	33292114	Frame_Shift_Del	DEL	A	TCGA-B3-8121-01A-21D-2396-08		33292114	215958507	1	15306											
ATP5F1	515	hgsc.bcm.edu	37	1	112002161	112002161	+	Missense_Mutation	SNP	A	A	G	rs201457142		TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr1:112002161A>G	ENST00000369722.3	+	6	1202	c.596A>G	c.(595-597)tAt>tGt	p.Y199C	ATP5F1_ENST00000483994.1_Missense_Mutation_p.Y138C|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	199					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGCCTGGACTATCATATATCT	0.418													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19484	0.0		0.0	False		,,,				2504	0.0															0								A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	79	85	83		596	4.8	1	1		83	1,8599		0,1,4299	no	missense	ATP5F1	NM_001688.4	194	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	probably-damaging	199/257	112002161	2,13004	2203	4300	6503	SO:0001583	missense	515			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	840	protein-coding gene	gene with protein product		603270	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.596A>G	chr1.hg19:g.112002161A>G	ENSP00000358737:p.Tyr199Cys		Q9BQ68|Q9BRU8	Missense_Mutation	SNP	ENST00000369722.3	hg19	CCDS836.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.189998	0.58017	2.27E-4	1.16E-4	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.38887	1.11;1.11	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71178	-0.4669	10	0.59425	D	0.04	.	14.394	0.66999	1.0:0.0:0.0:0.0	.	199;199	Q08ET0;P24539	.;AT5F1_HUMAN	C	199;138	ENSP00000358737:Y199C;ENSP00000420366:Y138C	ENSP00000358737:Y199C	Y	+	2	0	ATP5F1	111803684	1.000000	0.71417	0.998000	0.56505	0.208000	0.24298	8.489000	0.90461	1.956000	0.56807	0.383000	0.25322	TAT		0.418	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	NM_001688		G	112002161	A	G	112002161	3	3	255	1	0	0	0	0	1	0	0	0	1152	449	16	3	618	3	ATP5F1	1	112002161	Missense_Mutation	SNP	A	TCGA-B3-8121-01A-21D-2396-08	78710047	112002161	137248460	2	15307											
SLC16A1	6566	hgsc.bcm.edu	37	1	113460277	113460277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr1:113460277G>A	ENST00000538576.1	-	4	1582	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	SLC16A1_ENST00000369626.3_Nonsense_Mutation_p.Q251*|SLC16A1_ENST00000433570.4_Nonsense_Mutation_p.Q251*	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	251					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TCCAGGAACTGATTAATTGTT	0.388																																																0													101	103	103					1																	113460277		2203	4300	6503	SO:0001587	stop_gained	6566			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.751C>T	chr1.hg19:g.113460277G>A	ENSP00000441065:p.Gln251*		Q49A45|Q5T8R6|Q9NSJ9	Nonsense_Mutation	SNP	ENST00000538576.1	hg19	CCDS858.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639199	0.67244	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580	.	.	.	5.74	-3.2	0.05156	.	0.477590	0.27223	N	0.020353	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6817	0.91548	0.0:0.0:0.6596:0.3404	.	.	.	.	X	251	.	ENSP00000358640:Q251X	Q	-	1	0	SLC16A1	113261800	0.997000	0.39634	0.183000	0.23137	0.253000	0.25986	1.851000	0.39338	-0.739000	0.04809	-0.457000	0.05445	CAG		0.388	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		A	113460277	G	A	113460277	4	1	255	1	0	0	0	0	0	1	0	0	14408	1299	45	2	759	2	SLC16A1	1	113460277	Nonsense_Mutation	SNP	G	TCGA-B3-8121-01A-21D-2396-08	1458116	113460277	135790344	3	15308											
SNAPIN	23557	hgsc.bcm.edu	37	1	153631989	153631989	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr1:153631989C>G	ENST00000368685.5	+	3	346	c.256C>G	c.(256-258)Ctt>Gtt	p.L86V	SNAPIN_ENST00000478558.1_3'UTR|ILF2_ENST00000480213.1_5'Flank	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	86	Interaction with TOR1A.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAAGAAGCTACTTAATGCCCG	0.443																																																0													147	146	146					1																	153631989		2203	4300	6503	SO:0001583	missense	23557			AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"Biogenesis of lysosomal organelles complex-1 subunits"	17145	protein-coding gene	gene with protein product	"snapin", "SNAP-25-binding protein", "biogenesis of lysosomal organelles complex-1, subunit 7"	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.256C>G	chr1.hg19:g.153631989C>G	ENSP00000357674:p.Leu86Val		D3DV56|Q5SXU8	Missense_Mutation	SNP	ENST00000368685.5	hg19	CCDS1049.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734669	0.48939	.	.	ENSG00000143553	ENST00000368685	T	0.46451	0.87	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	L	0.39245	1.2	0.49582	D	0.999803	B	0.28998	0.23	B	0.20955	0.032	T	0.03364	-1.1044	10	0.15066	T	0.55	-16.4091	17.2626	0.87075	0.0:1.0:0.0:0.0	.	86	O95295	SNAPN_HUMAN	V	86	ENSP00000357674:L86V	ENSP00000357674:L86V	L	+	1	0	SNAPIN	151898613	0.999000	0.42202	0.961000	0.40146	0.986000	0.74619	4.168000	0.58216	2.941000	0.99782	0.655000	0.94253	CTT		0.443	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090036.1	NM_012437		G	153631989	C	G	153631989	3	3	255	1	0	0	0	0	1	0	0	0	14845	565	20	4	266	4	SNAPIN	1	153631989	Missense_Mutation	SNP	C	TCGA-B3-8121-01A-21D-2396-08	40171712	153631989	95618632	4	15309											
NLRC4	58484	hgsc.bcm.edu	37	2	32475306	32475307	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr2:32475306_32475307GC>CT	ENST00000404025.2	-	5	2114_2115	c.1626_1627GC>AG	c.(1624-1629)gaGCaa>gaAGaa	p.Q543E	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q543E|NLRC4_ENST00000402280.1_Missense_Mutation_p.Q543E			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	543					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGAATTTCTTGCTCAGTGGTGT	0.446																																																0																																										SO:0001583	missense	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1626_1627delinsCT	chr2.hg19:g.32475306_32475307delinsCT	ENSP00000385090:p.Gln543Glu		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation|Silent	SNP	ENST00000404025.2	hg19	CCDS33174.1																																																																																				0.446	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		CT	32475307	GC	CT	32475306	3	2	255	1	0	0	0	0	1	0	0	0	10471	1328	46	4	1471	4	NLRC4	2	32475306	Missense_Mutation	DNP	GC	TCGA-B3-8121-01A-21D-2396-08		32475306	210724067	5	15310											
HAT1	8520	hgsc.bcm.edu	37	2	172848182	172848182	+	Missense_Mutation	SNP	C	C	A			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr2:172848182C>A	ENST00000264108.4	+	11	1212	c.1176C>A	c.(1174-1176)agC>agA	p.S392R	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.S307R	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	392					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TAGAAATAAGCATGCAACATG	0.388																																																0													112	112	112					2																	172848182		2203	4300	6503	SO:0001583	missense	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.1176C>A	chr2.hg19:g.172848182C>A	ENSP00000264108:p.Ser392Arg		Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	hg19	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	C	3.309	-0.141123	0.06669	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.94	3.11	0.35812	.	0.224777	0.53938	D	0.000049	T	0.40423	0.1116	L	0.38175	1.15	0.32521	N	0.536232	B	0.02656	0.0	B	0.04013	0.001	T	0.45220	-0.9276	9	0.87932	D	0	-6.6111	8.5772	0.33605	0.0:0.7345:0.127:0.1386	.	392	O14929	HAT1_HUMAN	R	307;392	.	ENSP00000264108:S392R	S	+	3	2	HAT1	172556428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.923000	0.28757	0.370000	0.24538	0.591000	0.81541	AGC		0.388	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		A	172848182	C	A	172848182	3	1	255	1	0	0	0	0	1	0	0	0	6966	709	25	4	1218	4	HAT1	2	172848182	Missense_Mutation	SNP	C	TCGA-B3-8121-01A-21D-2396-08	140372876	172848182	70351191	6	15311											
ZNF142	7701	hgsc.bcm.edu	37	2	219510938	219510938	+	Missense_Mutation	SNP	C	C	A			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr2:219510938C>A	ENST00000449707.1	-	7	1828	c.1407G>T	c.(1405-1407)aaG>aaT	p.K469N	ZNF142_ENST00000411696.2_Missense_Mutation_p.K469N	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAGGTAGTGCTTCCACTTGG	0.517																																					Colon(170;867 1942 8995 15834 18053)											0													226	220	222					2																	219510938		2153	4245	6398	SO:0001583	missense	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1407G>T	chr2.hg19:g.219510938C>A	ENSP00000408643:p.Lys469Asn		Q92510	Missense_Mutation	SNP	ENST00000449707.1	hg19	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188772	0.78789	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.54071	0.59;0.59	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.41906	1.305	0.42919	D	0.994282	D;D	0.89917	1.0;0.999	D;D	0.85130	0.996;0.997	T	0.62978	-0.6739	10	0.54805	T	0.06	-14.9575	12.26	0.54645	0.0:0.9228:0.0:0.0772	.	469;306	P52746;A8MWU9	ZN142_HUMAN;.	N	469	ENSP00000408643:K469N;ENSP00000398798:K469N	ENSP00000398798:K469N	K	-	3	2	ZNF142	219219182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.173000	0.50839	2.709000	0.92574	0.561000	0.74099	AAG		0.517	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		A	219510938	C	A	219510938	3	1	255	1	0	0	0	0	1	0	0	0	17736	796	28	4	3672	4	ZNF142	2	219510938	Missense_Mutation	SNP	C	TCGA-B3-8121-01A-21D-2396-08	46662756	219510938	23688435	7	15312											
ADAMTS16	170690	hgsc.bcm.edu	37	5	5235247	5235247	+	Missense_Mutation	SNP	C	C	G			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr5:5235247C>G	ENST00000274181.7	+	13	2109	c.1971C>G	c.(1969-1971)agC>agG	p.S657R	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	657	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCACAACAGCAGACGATTCA	0.512																																																0													76	80	79					5																	5235247		1950	4152	6102	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1971C>G	chr5.hg19:g.5235247C>G	ENSP00000274181:p.Ser657Arg		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302320	0.23736	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.63580	-0.05	4.57	3.68	0.42216	.	0.198340	0.50627	D	0.000116	T	0.56702	0.2003	M	0.62016	1.91	0.80722	D	1	P;B	0.50710	0.938;0.296	B;B	0.41860	0.368;0.292	T	0.58825	-0.7568	10	0.33940	T	0.23	.	11.2853	0.49218	0.0:0.908:0.0:0.092	.	657;657	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	R	657	ENSP00000274181:S657R	ENSP00000274181:S657R	S	+	3	2	ADAMTS16	5288247	1.000000	0.71417	0.100000	0.21137	0.015000	0.08874	2.587000	0.46128	2.270000	0.75569	0.655000	0.94253	AGC		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		G	5235247	C	G	5235247	3	3	255	1	0	0	0	0	1	0	0	0	261	709	25	4	2021	4	ADAMTS16	5	5235247	Missense_Mutation	SNP	C	TCGA-B3-8121-01A-21D-2396-08		5235247	175680013	8	15313											
VCAN	1462	hgsc.bcm.edu	37	5	82850838	82850838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr5:82850838G>A	ENST00000265077.3	+	12	10281	c.9716G>A	c.(9715-9717)tGg>tAg	p.W3239*	VCAN_ENST00000502527.2_Nonsense_Mutation_p.W498*|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Nonsense_Mutation_p.W1485*|VCAN_ENST00000512590.2_Nonsense_Mutation_p.W1437*|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Nonsense_Mutation_p.W2252*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3239	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.W3239S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GACTTCCGTTGGACTGATGGC	0.443																																																1	Substitution - Missense(1)	lung(1)											236	192	207					5																	82850838		2203	4300	6503	SO:0001587	stop_gained	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9716G>A	chr5.hg19:g.82850838G>A	ENSP00000265077:p.Trp3239*		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	ENST00000265077.3	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	48	13.927085	0.99770	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	.	.	.	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	.	.	.	X	3239;2252;1485;1437;498	.	ENSP00000265077:W3239X	W	+	2	0	VCAN	82886594	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.756000	0.98918	2.752000	0.94435	0.557000	0.71058	TGG		0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		A	82850838	G	A	82850838	4	1	255	1	0	0	0	0	0	1	0	0	17143	1357	47	2	9758	2	VCAN	5	82850838	Nonsense_Mutation	SNP	G	TCGA-B3-8121-01A-21D-2396-08	77615591	82850838	98064422	9	15314											
HIST1H4B	8366	hgsc.bcm.edu	37	6	26027471	26027471	+	Missense_Mutation	SNP	G	G	C			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr6:26027471G>C	ENST00000377364.3	-	1	9	c.10C>G	c.(10-12)Cgc>Ggc	p.R4G		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	4					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCTTTGCCGCGACCAGACATG	0.512																																																0													49	47	47					6																	26027471		2203	4300	6503	SO:0001583	missense	8366			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.10C>G	chr6.hg19:g.26027471G>C	ENSP00000366581:p.Arg4Gly		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	hg19	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	g	12.98	2.099423	0.37048	.	.	ENSG00000124529	ENST00000377364	.	.	.	4.56	3.6	0.41247	.	0.000000	0.47852	U	0.000206	T	0.42988	0.1227	.	.	.	0.29320	N	0.867408	.	.	.	.	.	.	T	0.30592	-0.9973	6	0.72032	D	0.01	.	13.1415	0.59438	0.0:0.0:0.7636:0.2364	.	.	.	.	G	4	.	ENSP00000366581:R4G	R	-	1	0	HIST1H4B	26135450	0.573000	0.26676	0.167000	0.22817	0.033000	0.12548	0.731000	0.26058	2.454000	0.82982	0.563000	0.77884	CGC		0.512	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		C	26027471	G	C	26027471	3	2	255	1	0	0	0	0	1	0	0	0	7168	1058	37	4	305	4	HIST1H4B	6	26027471	Missense_Mutation	SNP	G	TCGA-B3-8121-01A-21D-2396-08		26027471	145087596	10	15315											
PKHD1	5314	hgsc.bcm.edu	37	6	51924820	51924820	+	Missense_Mutation	SNP	A	A	C	rs143341567		TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr6:51924820A>C	ENST00000371117.3	-	15	1414	c.1139T>G	c.(1138-1140)tTt>tGt	p.F380C	AL590391.1_ENST00000408630.2_RNA|PKHD1_ENST00000340994.4_Missense_Mutation_p.F380C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	380					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGAGCCACAAAGAACCCACT	0.443																																																0													85	77	80					6																	51924820		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1139T>G	chr6.hg19:g.51924820A>C	ENSP00000360158:p.Phe380Cys		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110642	0.77210	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.76968	-1.06;-1.06	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	D	0.85617	0.5738	M	0.78049	2.395	0.38168	D	0.939231	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.88299	0.2948	10	0.87932	D	0	.	15.0065	0.71516	1.0:0.0:0.0:0.0	.	380;380	P08F94-2;P08F94	.;PKHD1_HUMAN	C	380	ENSP00000360158:F380C;ENSP00000341097:F380C	ENSP00000341097:F380C	F	-	2	0	PKHD1	52032779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.103000	0.71492	2.195000	0.70347	0.528000	0.53228	TTT		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		C	51924820	A	C	51924820	3	2	255	1	0	0	0	0	1	0	0	0	11973	14	1	5	11336	5	PKHD1	6	51924820	Missense_Mutation	SNP	A	TCGA-B3-8121-01A-21D-2396-08	25897349	51924820	119190247	11	15316											
KCNQ5	56479	hgsc.bcm.edu	37	6	73905126	73905126	+	Missense_Mutation	SNP	A	A	G			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr6:73905126A>G	ENST00000370398.1	+	14	2897	c.2788A>G	c.(2788-2790)Aaa>Gaa	p.K930E	KCNQ5_ENST00000355635.3_Missense_Mutation_p.K931E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.K930E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.K820E|KCNQ5_ENST00000342056.2_Missense_Mutation_p.K949E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.K921E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.K940E	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	930					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GCCTCATGTCAAACTGAAATA	0.408																																					GBM(142;1375 1859 14391 23261 44706)											0													64	65	65					6																	73905126		2203	4300	6503	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2788A>G	chr6.hg19:g.73905126A>G	ENSP00000359425:p.Lys930Glu		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	hg19	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587561	0.46110	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99429	-5.66;-5.66;-5.66;-5.66;-5.67;-5.7;-5.89	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.98698	0.9563	N	0.24115	0.695	0.24539	N	0.994073	D;P;B;P;B	0.61697	0.99;0.792;0.017;0.525;0.435	D;B;B;B;B	0.72982	0.979;0.254;0.021;0.117;0.078	D	0.96550	0.9407	10	0.62326	D	0.03	.	16.4622	0.84064	1.0:0.0:0.0:0.0	.	820;940;949;921;930	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	E	949;949;930;930;940;931;921;820	ENSP00000345055:K949E;ENSP00000347326:K930E;ENSP00000359425:K930E;ENSP00000385501:K940E;ENSP00000347853:K931E;ENSP00000384453:K921E;ENSP00000409861:K820E	ENSP00000345055:K949E	K	+	1	0	KCNQ5	73961847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.654000	0.67974	2.289000	0.77006	0.533000	0.62120	AAA		0.408	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		G	73905126	A	G	73905126	3	3	255	1	0	0	0	0	1	0	0	0	8088	131	5	3	2903	3	KCNQ5	6	73905126	Missense_Mutation	SNP	A	TCGA-B3-8121-01A-21D-2396-08	21980306	73905126	97209941	12	15317											
RARS2	57038	hgsc.bcm.edu	37	6	88231239	88231239	+	Missense_Mutation	SNP	A	A	T			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr6:88231239A>T	ENST00000369536.5	-	12	1023	c.978T>A	c.(976-978)gaT>gaA	p.D326E	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	326					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CAGCTGCAAGATCTCTGAAAC	0.323																																																0													83	83	83					6																	88231239		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.978T>A	chr6.hg19:g.88231239A>T	ENSP00000358549:p.Asp326Glu		B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	hg19	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.219539	0.79464	.	.	ENSG00000146282	ENST00000369536	D	0.82081	-1.57	5.83	-1.0	0.10196	Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	H	0.95712	3.71	0.58432	D	0.999996	D	0.71674	0.998	D	0.80764	0.994	D	0.90743	0.4651	10	0.87932	D	0	.	11.7636	0.51918	0.557:0.0:0.443:0.0	.	326	Q5T160	SYRM_HUMAN	E	326	ENSP00000358549:D326E	ENSP00000358549:D326E	D	-	3	2	RARS2	88287958	0.984000	0.35163	0.987000	0.45799	0.993000	0.82548	0.740000	0.26188	-0.395000	0.07715	0.533000	0.62120	GAT		0.323	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		T	88231239	A	T	88231239	3	4	255	1	0	0	0	0	1	0	0	0	13065	330	12	5	794	5	RARS2	6	88231239	Missense_Mutation	SNP	A	TCGA-B3-8121-01A-21D-2396-08	14326113	88231239	82883828	13	15318											
IGFBP1	3484	hgsc.bcm.edu	37	7	45932569	45932569	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr7:45932569delC	ENST00000275525.3	+	4	955	c.659delC	c.(658-660)tccfs	p.S220fs	IGFBP1_ENST00000457280.1_Frame_Shift_Del_p.S218fs|IGFBP1_ENST00000468955.1_Frame_Shift_Del_p.S177fs	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	220	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						TGTGAGACATCCATGGATGGA	0.547																																																0													84	79	81					7																	45932569		2203	4300	6503	SO:0001589	frameshift_variant	3484				CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"placental protein 12", "amniotic fluid binding protein", "alpha-pregnancy-associated endometrial globulin", "growth hormone independent-binding protein", "binding protein-28", "binding protein-26", "binding protein-25", "IGF-binding protein 1"	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.659delC	chr7.hg19:g.45932569delC	ENSP00000275525:p.Ser220fs		A4D2F4|D3DVL9|Q8IYP5	Frame_Shift_Del	DEL	ENST00000275525.3	hg19	CCDS5504.1																																																																																				0.547	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		-	45932569	C	-	45932569	7	5	255	1	0	1	0	1	0	0	0	0	7580	855	30	0	673	0	IGFBP1	7	45932569	Frame_Shift_Del	DEL	C	TCGA-B3-8121-01A-21D-2396-08		45932569	113206094	14	15319											
TRIP6	7205	hgsc.bcm.edu	37	7	100465513	100465514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr7:100465513_100465514insC	ENST00000200457.4	+	2	500_501	c.140_141insC	c.(139-144)tgccccfs	p.CP47fs		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	47					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTCAATTTTTGCCCCCTTCCAT	0.624																																																0																																										SO:0001589	frameshift_variant	7205			L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.145dupC	chr7.hg19:g.100465518_100465518dupC	ENSP00000200457:p.Cys47fs		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Frame_Shift_Ins	INS	ENST00000200457.4	hg19	CCDS5708.1																																																																																				0.624	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		C	100465514	-	C	100465513	7	5	255	1	0	1	1	0	0	0	0	0	16564	1319	46	0	146	0	TRIP6	7	100465513	Frame_Shift_Ins	INS	-	TCGA-B3-8121-01A-21D-2396-08	54532944	100465513	58673150	15	15320											
CAPRIN2	65981	hgsc.bcm.edu	37	12	30888129	30888129	+	Silent	SNP	C	C	T	rs145888176		TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr12:30888129C>T	ENST00000395805.2	-	4	1129	c.582G>A	c.(580-582)gcG>gcA	p.A194A	CAPRIN2_ENST00000417045.1_Silent_p.A194A|CAPRIN2_ENST00000538387.1_5'Flank|CAPRIN2_ENST00000298892.5_Silent_p.A194A|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000251071.5_Silent_p.A194A	NM_001206856.1	NP_001193785.1			caprin family member 2									p.A194A(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTTCTTTTGCGCTTTTAGTA	0.378																																																1	Substitution - coding silent(1)	lung(1)						C	,,,	0,4406		0,0,2203	127	123	125		582,582,582,582	-5.3	1	12	dbSNP_134	125	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CAPRIN2	NM_001002259.1,NM_001206856.1,NM_023925.3,NM_032156.3	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	194/1128,194/906,194/1078,194/961	30888129	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.582G>A	chr12.hg19:g.30888129C>T				Silent	SNP	ENST00000395805.2	hg19	CCDS55816.1																																																																																				0.378	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		T	30888129	C	T	30888129	2	4	255	1	0	0	0	0	0	0	0	1	2638	755	27	1		1	CAPRIN2	12	30888129	Silent	SNP	C	TCGA-B3-8121-01A-21D-2396-08		30888129	102963766	16	15321											
GIT2	9815	hgsc.bcm.edu	37	12	110385121	110385127	+	Frame_Shift_Del	DEL	TGGGAGA	TGGGAGA	-	rs185965842	byFrequency	TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	TGGGAGA	TGGGAGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr12:110385121_110385127delTGGGAGA	ENST00000355312.3	-	15	1574_1580	c.1575_1581delTCTCCCA	c.(1573-1581)tatctcccafs	p.YLP525fs	GIT2_ENST00000338373.5_Intron|GIT2_ENST00000551209.1_Frame_Shift_Del_p.YLP474fs|GIT2_ENST00000361006.5_Frame_Shift_Del_p.YLP525fs|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000354574.4_Frame_Shift_Del_p.YLP477fs|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000457474.2_Frame_Shift_Del_p.YLP477fs|GIT2_ENST00000343646.5_Frame_Shift_Del_p.YLP445fs|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000360185.4_Frame_Shift_Del_p.YLP475fs	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	525					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.L526I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTTCTCCCATTGGGAGATATGGTTTCT	0.57																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	9815			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1575_1581delTCTCCCA	chr12.hg19:g.110385121_110385127delTGGGAGA	ENSP00000347464:p.Tyr525fs		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Frame_Shift_Del	DEL	ENST00000355312.3	hg19	CCDS9138.1																																																																																				0.57	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		-	110385127	TGGGAGA	-	110385121	7	5	255	1	0	1	0	1	0	0	0	0	6399	1799	63	0	722	0	GIT2	12	110385121	Frame_Shift_Del	DEL	TGGGAGA	TCGA-B3-8121-01A-21D-2396-08	79496992	110385121	23466774	17	15322											
RAN	5901	hgsc.bcm.edu	37	12	131359114	131359114	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr12:131359114G>A	ENST00000543796.1	+	5	529	c.271G>A	c.(271-273)Gat>Aat	p.D91N	RAN_ENST00000254675.3_Missense_Mutation_p.D3N|RAN_ENST00000392367.3_Missense_Mutation_p.D108N|RAN_ENST00000392369.2_Missense_Mutation_p.D91N|RAN_ENST00000541630.1_Missense_Mutation_p.D3N			P62826	RAN_HUMAN	RAN, member RAS oncogene family	91					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		CATAATGTTTGATGTAACATC	0.413																																																0													122	103	109					12																	131359114		2203	4300	6503	SO:0001583	missense	5901			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.271G>A	chr12.hg19:g.131359114G>A	ENSP00000446215:p.Asp91Asn		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	ENST00000543796.1	hg19	CCDS9271.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769269	0.90020	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000541630;ENST00000392369;ENST00000254675;ENST00000535090;ENST00000392367	D;D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	3.93	3.93	0.45458	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	H	0.96720	3.87	0.80722	D	1	D;D	0.55800	0.973;0.973	D;D	0.68192	0.956;0.956	D	0.97181	0.9851	10	0.87932	D	0	-17.8637	15.3182	0.74099	0.0:0.0:1.0:0.0	.	91;91	A8K3Z8;P62826	.;RAN_HUMAN	N	91;109;3;91;3;87;108	ENSP00000446215:D91N;ENSP00000396127:D109N;ENSP00000441210:D3N;ENSP00000376176:D91N;ENSP00000254675:D3N;ENSP00000444042:D87N;ENSP00000376174:D108N	ENSP00000254675:D3N	D	+	1	0	RAN	129925067	1.000000	0.71417	0.974000	0.42286	0.827000	0.46813	9.335000	0.96500	1.906000	0.55180	0.561000	0.74099	GAT		0.413	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259441.2	NM_006325		A	131359114	G	A	131359114	3	1	255	1	0	0	0	0	1	0	0	0	13030	1290	45	2	285	2	RAN	12	131359114	Missense_Mutation	SNP	G	TCGA-B3-8121-01A-21D-2396-08	20973993	131359114	2492781	18	15323											
TJP1	7082	hgsc.bcm.edu	37	15	30008820	30008820	+	Silent	SNP	A	A	G			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr15:30008820A>G	ENST00000346128.6	-	23	4671	c.4197T>C	c.(4195-4197)tcT>tcC	p.S1399S	TJP1_ENST00000400011.2_Silent_p.S1323S|TJP1_ENST00000356107.6_Silent_p.S1399S|TJP1_ENST00000545208.2_Silent_p.S1319S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1399					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTACTTTGAAGAATAACTAG	0.368																																					Melanoma(77;681 1843 6309 6570)											0													60	61	61					15																	30008820		1812	4085	5897	SO:0001819	synonymous_variant	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4197T>C	chr15.hg19:g.30008820A>G			B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	hg19	CCDS42007.1																																																																																				0.368	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		G	30008820	A	G	30008820	2	3	255	1	0	0	0	0	0	0	0	1	15934	59	3	3		3	TJP1	15	30008820	Silent	SNP	A	TCGA-B3-8121-01A-21D-2396-08		30008820	72522572	19	15324											
TJP1	7082	hgsc.bcm.edu	37	15	30065529	30065529	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr15:30065529G>T	ENST00000346128.6	-	3	590	c.116C>A	c.(115-117)tCt>tAt	p.S39Y	TJP1_ENST00000400011.2_Missense_Mutation_p.S43Y|TJP1_ENST00000495972.2_Missense_Mutation_p.S39Y|TJP1_ENST00000356107.6_Missense_Mutation_p.S39Y|TJP1_ENST00000545208.2_Missense_Mutation_p.S39Y	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	39	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCGTCCACCAGATATTGCAAT	0.363																																					Melanoma(77;681 1843 6309 6570)											0													136	121	126					15																	30065529		1874	4102	5976	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.116C>A	chr15.hg19:g.30065529G>T	ENSP00000281537:p.Ser39Tyr		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	hg19	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859179	0.71834	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.5	5.5	0.81552	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.73291	-0.4029	9	.	.	.	.	19.7625	0.96325	0.0:0.0:1.0:0.0	.	32;39;39;43	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	Y	39;43;39;39;39	ENSP00000281537:S39Y;ENSP00000382890:S43Y;ENSP00000441202:S39Y;ENSP00000348416:S39Y	.	S	-	2	0	TJP1	27852821	1.000000	0.71417	0.999000	0.59377	0.256000	0.26092	9.715000	0.98748	2.749000	0.94314	0.585000	0.79938	TCT		0.363	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		T	30065529	G	T	30065529	3	4	255	1	0	0	0	0	1	0	0	0	15934	942	33	4	5234	4	TJP1	15	30065529	Missense_Mutation	SNP	G	TCGA-B3-8121-01A-21D-2396-08	56709	30065529	72465863	20	15325											
EFCAB3	146779	hgsc.bcm.edu	37	17	60484528	60484528	+	Silent	SNP	T	T	C			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr17:60484528T>C	ENST00000305286.3	+	8	900	c.822T>C	c.(820-822)caT>caC	p.H274H	EFCAB3_ENST00000450662.2_Silent_p.H326H	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	274							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGCCTTTGCATTTCTTTGAGG	0.358																																																0													80	82	81					17																	60484528		2203	4300	6503	SO:0001819	synonymous_variant	146779			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.822T>C	chr17.hg19:g.60484528T>C			J3KQM8	Silent	SNP	ENST00000305286.3	hg19	CCDS11632.1																																																																																				0.358	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		C	60484528	T	C	60484528	2	2	255	1	0	0	0	0	0	0	0	1	4937	1490	52	3		3	EFCAB3	17	60484528	Silent	SNP	T	TCGA-B3-8121-01A-21D-2396-08		60484528	20710682	21	15326											
KLHL14	57565	hgsc.bcm.edu	37	18	30350134	30350134	+	Missense_Mutation	SNP	A	A	C			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr18:30350134A>C	ENST00000359358.4	-	2	859	c.421T>G	c.(421-423)Tac>Gac	p.Y141D	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.Y141D	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	141	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGTAGAGGTACTCGAGCACC	0.642																																																0													99	99	99					18																	30350134		2203	4300	6503	SO:0001583	missense	57565			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.421T>G	chr18.hg19:g.30350134A>C	ENSP00000352314:p.Tyr141Asp		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	hg19	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	A	9.978	1.227338	0.22542	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.71222	-0.55;-0.55	4.34	4.34	0.51931	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.134366	0.51477	D	0.000081	T	0.78660	0.4318	L	0.48362	1.52	0.80722	D	1	D	0.63880	0.993	D	0.81914	0.995	T	0.80876	-0.1186	10	0.87932	D	0	.	13.0081	0.58717	1.0:0.0:0.0:0.0	.	141	Q9P2G3	KLH14_HUMAN	D	141	ENSP00000352314:Y141D;ENSP00000350808:Y141D	ENSP00000350808:Y141D	Y	-	1	0	KLHL14	28604132	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.006000	0.70724	1.738000	0.51689	0.377000	0.23210	TAC		0.642	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			C	30350134	A	C	30350134	3	2	255	1	0	0	0	0	1	0	0	0	8372	391	14	5	1497	5	KLHL14	18	30350134	Missense_Mutation	SNP	A	TCGA-B3-8121-01A-21D-2396-08		30350134	47727114	22	15327											
ATP5A1	498	hgsc.bcm.edu	37	18	43671697	43671697	+	Missense_Mutation	SNP	A	A	G			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr18:43671697A>G	ENST00000398752.6	-	3	381	c.260T>C	c.(259-261)cTg>cCg	p.L87P	ATP5A1_ENST00000593152.2_Missense_Mutation_p.L37P|ATP5A1_ENST00000591267.1_5'Flank|ATP5A1_ENST00000282050.2_Missense_Mutation_p.L87P|ATP5A1_ENST00000590665.1_Missense_Mutation_p.L87P	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	87					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AACATTCCTCAGCCCATGTAC	0.388																																																0													100	98	98					18																	43671697		2203	4300	6503	SO:0001583	missense	498			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	823	protein-coding gene	gene with protein product		164360	"ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.260T>C	chr18.hg19:g.43671697A>G	ENSP00000381736:p.Leu87Pro		A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	hg19	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527021	0.85706	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.88354	-2.37;-2.37	5.24	5.24	0.73138	ATPase, F1/A1 complex, alpha subunit, N-terminal (1);ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	0.147149	0.47852	D	0.000217	D	0.96873	0.8979	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98545	1.0634	10	0.87932	D	0	-17.4309	15.1468	0.72662	1.0:0.0:0.0:0.0	.	87	P25705	ATPA_HUMAN	P	87;87;37	ENSP00000282050:L87P;ENSP00000381736:L87P	ENSP00000282050:L87P	L	-	2	0	ATP5A1	41925695	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.176000	0.94839	1.975000	0.57531	0.533000	0.62120	CTG		0.388	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		G	43671697	A	G	43671697	3	3	255	1	0	0	0	0	1	0	0	0	1147	188	7	3	1441	3	ATP5A1	18	43671697	Missense_Mutation	SNP	A	TCGA-B3-8121-01A-21D-2396-08	13321563	43671697	34405551	23	15328											
ANKRD27	84079	hgsc.bcm.edu	37	19	33132944	33132944	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr19:33132944G>A	ENST00000306065.4	-	10	1048	c.890C>T	c.(889-891)tCt>tTt	p.S297F	ANKRD27_ENST00000587352.1_Missense_Mutation_p.S297F	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	297	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGGCTTGGAGACTGTGTAAT	0.493																																																0													149	138	142					19																	33132944		2203	4300	6503	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.890C>T	chr19.hg19:g.33132944G>A	ENSP00000304292:p.Ser297Phe		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	hg19	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	9.152	1.016485	0.19355	.	.	ENSG00000105186	ENST00000306065	T	0.31247	1.5	5.43	5.43	0.79202	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.64402	D	0.000017	T	0.40222	0.1108	M	0.72118	2.19	0.53005	D	0.999961	B	0.23058	0.079	B	0.28638	0.092	T	0.23904	-1.0175	10	0.44086	T	0.13	-22.3055	19.253	0.93933	0.0:0.0:1.0:0.0	.	297	Q96NW4	ANR27_HUMAN	F	297	ENSP00000304292:S297F	ENSP00000304292:S297F	S	-	2	0	ANKRD27	37824784	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	5.388000	0.66249	2.551000	0.86045	0.563000	0.77884	TCT		0.493	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		A	33132944	G	A	33132944	3	1	255	1	0	0	0	0	1	0	0	0	655	942	33	2	2342	2	ANKRD27	19	33132944	Missense_Mutation	SNP	G	TCGA-B3-8121-01A-21D-2396-08		33132944	25996039	24	15329											
LILRA5	353514	hgsc.bcm.edu	37	19	54819027	54819027	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr19:54819027G>A	ENST00000301219.3	-	6	838	c.719C>T	c.(718-720)gCt>gTt	p.A240V	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.A228V	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	240					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGGTTATCAGCTGCTCCTGA	0.517																																																0													83	76	78					19																	54819027		2203	4300	6503	SO:0001583	missense	353514			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.719C>T	chr19.hg19:g.54819027G>A	ENSP00000301219:p.Ala240Val		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	hg19	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383828	0.25031	.	.	ENSG00000187116	ENST00000301219;ENST00000346508	T;T	0.00502	7.02;6.95	2.31	2.31	0.28768	.	.	.	.	.	T	0.00608	0.0020	M	0.62154	1.92	0.21386	N	0.999702	B;B	0.25048	0.117;0.014	B;B	0.31946	0.138;0.01	T	0.37103	-0.9720	9	0.38643	T	0.18	.	8.1667	0.31230	0.0:0.0:1.0:0.0	.	228;240	A6NI73-2;A6NI73	.;LIRA5_HUMAN	V	240;228	ENSP00000301219:A240V;ENSP00000302948:A228V	ENSP00000301219:A240V	A	-	2	0	LILRA5	59510839	0.000000	0.05858	0.004000	0.12327	0.073000	0.16967	0.233000	0.17911	1.603000	0.50134	0.536000	0.68110	GCT		0.517	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		A	54819027	G	A	54819027	3	1	255	1	0	0	0	0	1	0	0	0	8790	971	34	2	188	2	LILRA5	19	54819027	Missense_Mutation	SNP	G	TCGA-B3-8121-01A-21D-2396-08	21686083	54819027	4309956	25	15330											
ZNF341	84905	hgsc.bcm.edu	37	20	32345059	32345060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr20:32345059_32345060insC	ENST00000375200.1	+	6	1212_1213	c.847_848insC	c.(847-849)accfs	p.T283fs	ZNF341_ENST00000342427.2_Frame_Shift_Ins_p.T283fs	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGCCCCCATGACCAGCGCCACC	0.629																																																0																																										SO:0001589	frameshift_variant	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.849dupC	chr20.hg19:g.32345061_32345061dupC	ENSP00000364346:p.Thr283fs		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Frame_Shift_Ins	INS	ENST00000375200.1	hg19																																																																																					0.629	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				C	32345060	-	C	32345059	7	5	255	1	0	1	1	0	0	0	0	0	17862	275	10	0	869	0	ZNF341	20	32345059	Frame_Shift_Ins	INS	-	TCGA-B3-8121-01A-21D-2396-08		32345059	30680461	26	15331											
NUP50	10762	hgsc.bcm.edu	37	22	45574449	45574449	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chr22:45574449delT	ENST00000347635.4	+	5	1137	c.671delT	c.(670-672)cttfs	p.L224fs	NUP50_ENST00000396096.2_Frame_Shift_Del_p.L196fs|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Frame_Shift_Del_p.L196fs|CTA-268H5.12_ENST00000610217.1_RNA	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	224	5 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCTCCTTCCCTTTTTGGCTCA	0.408																																																0													40	41	40					22																	45574449		2203	4300	6503	SO:0001589	frameshift_variant	10762			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"nucleoporin 50kD"	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.671delT	chr22.hg19:g.45574449delT	ENSP00000345895:p.Leu224fs		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Frame_Shift_Del	DEL	ENST00000347635.4	hg19	CCDS14062.1																																																																																				0.408	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			-	45574449	T	-	45574449	7	5	255	1	0	1	0	1	0	0	0	0	10768	1609	56	0	685	0	NUP50	22	45574449	Frame_Shift_Del	DEL	T	TCGA-B3-8121-01A-21D-2396-08		45574449	5730117	27	15332											
HUWE1	10075	hgsc.bcm.edu	37	X	53589174	53589174	+	Silent	SNP	C	C	T			TCGA-B3-8121-01A-21D-2396-08	TCGA-B3-8121-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef96a344-c871-4819-aada-dd93a5c7ca7d	5e9a09f1-d8de-4b72-99a8-ec2dad680376	g.chrX:53589174C>T	ENST00000342160.3	-	53	7693	c.7236G>A	c.(7234-7236)gaG>gaA	p.E2412E	HUWE1_ENST00000262854.6_Silent_p.E2412E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2412	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E2275D(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTGCTCCTCCTCATCCTCAG	0.498																																																1	Substitution - Missense(1)	breast(1)											138	86	104					X																	53589174		2203	4300	6503	SO:0001819	synonymous_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7236G>A	chrX.hg19:g.53589174C>T			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	2.473	-0.321458	0.05386	.	.	ENSG00000086758	ENST00000427052	.	.	.	4.93	4.05	0.47172	.	.	.	.	.	T	0.57592	0.2064	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55082	-0.8196	4	.	.	.	.	8.1437	0.31100	0.0:0.8128:0.0:0.1872	.	.	.	.	R	1446	.	.	G	-	1	0	HUWE1	53605899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.451000	0.35145	2.164000	0.68074	0.513000	0.50165	GGA		0.498	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53589174	C	T	53589174	2	4	255	1	0	0	0	0	0	0	0	1	7463	680	24	2		2	HUWE1	23	53589174	Silent	SNP	C	TCGA-B3-8121-01A-21D-2396-08		53589174	101681386	28	15333											
PHC2	1912	hgsc.bcm.edu	37	1	33790580	33790580	+	Missense_Mutation	SNP	G	G	C	rs370770593		TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr1:33790580G>C	ENST00000257118.5	-	14	2516	c.2463C>G	c.(2461-2463)atC>atG	p.I821M	PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Missense_Mutation_p.I427M|PHC2_ENST00000431992.1_Missense_Mutation_p.I792M|PHC2_ENST00000419414.2_Missense_Mutation_p.I822M|RP11-415J8.3_ENST00000588828.1_RNA|RP11-415J8.3_ENST00000587696.1_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.I286M|RP11-415J8.3_ENST00000457957.2_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	821	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTTGCCCGTCGATTTCCTGGG	0.602																																																0													64	57	59					1																	33790580		2203	4300	6503	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2463C>G	chr1.hg19:g.33790580G>C	ENSP00000257118:p.Ile821Met		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	hg19	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774537	0.31411	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.73	-2.29	0.06805	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	M	0.93978	3.48	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.66351	0.943;0.909;0.943	T	0.81627	-0.0847	10	0.87932	D	0	-18.6041	12.5999	0.56491	0.6063:0.0:0.3937:0.0	.	822;793;821	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	M	792;821;427;286;397;822	ENSP00000389436:I792M;ENSP00000257118:I821M;ENSP00000362521:I427M;ENSP00000362517:I286M;ENSP00000391440:I822M	ENSP00000257118:I821M	I	-	3	3	PHC2	33563167	0.002000	0.14202	0.497000	0.27552	0.479000	0.33129	-1.250000	0.02885	-0.720000	0.04935	-1.814000	0.00607	ATC		0.602	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		C	33790580	G	C	33790580	3	2	256	1	0	0	0	0	1	0	0	0	11819	1048	37	4	117	4	PHC2	1	33790580	Missense_Mutation	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10		33790580	215460041	1	15334											
ZNF691	51058	hgsc.bcm.edu	37	1	43316674	43316674	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr1:43316674G>T	ENST00000372506.1	+	4	385	c.45G>T	c.(43-45)gaG>gaT	p.E15D	ZNF691_ENST00000372502.1_Missense_Mutation_p.E37D|ZNF691_ENST00000372508.3_Missense_Mutation_p.E15D|ZNF691_ENST00000372504.1_Missense_Mutation_p.E37D|ZNF691_ENST00000397044.3_Missense_Mutation_p.E46D|ZNF691_ENST00000372507.1_Missense_Mutation_p.E15D	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	46						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTGCCTGAGGAAGGGGAAG	0.547																																																0													75	75	75					1																	43316674		2203	4300	6503	SO:0001583	missense	51058				CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"Zinc fingers, C2H2-type"	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.45G>T	chr1.hg19:g.43316674G>T	ENSP00000361584:p.Glu15Asp		A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP	ENST00000372506.1	hg19	CCDS476.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946137	0.53079	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000397034;ENST00000372503;ENST00000372502	T;T;T;T;T;T;T	0.09630	3.03;3.03;3.03;2.96;2.97;4.42;2.97	5.58	3.66	0.41972	.	0.220360	0.32593	N	0.005885	T	0.07954	0.0199	N	0.19112	0.55	0.35419	D	0.793114	B;B	0.16603	0.007;0.018	B;B	0.16722	0.016;0.016	T	0.11991	-1.0565	10	0.59425	D	0.04	-16.8708	10.9839	0.47510	0.0:0.1404:0.7137:0.1459	.	46;46	B4DJR7;Q5VV52	.;ZN691_HUMAN	D	15;15;15;46;37;46;46;37	ENSP00000361586:E15D;ENSP00000361585:E15D;ENSP00000361584:E15D;ENSP00000380237:E46D;ENSP00000361582:E37D;ENSP00000380228:E46D;ENSP00000361580:E37D	ENSP00000361580:E37D	E	+	3	2	ZNF691	43089261	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.991000	0.40727	0.789000	0.33779	0.655000	0.94253	GAG		0.547	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020192.1	NM_015911		T	43316674	G	T	43316674	3	4	256	1	0	0	0	0	1	0	0	0	18101	991	35	4	47	4	ZNF691	1	43316674	Missense_Mutation	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10	9526094	43316674	205933947	2	15335											
PTPRF	5792	hgsc.bcm.edu	37	1	44035436	44035436	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr1:44035436G>T	ENST00000359947.4	+	6	895	c.555G>T	c.(553-555)aaG>aaT	p.K185N	PTPRF_ENST00000438120.1_Missense_Mutation_p.K185N|PTPRF_ENST00000372413.3_Missense_Mutation_p.K185N|PTPRF_ENST00000372414.3_Missense_Mutation_p.K185N	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	185	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCGCATCAAGCAGCTGCGTT	0.587																																																0													40	39	39					1																	44035436		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.555G>T	chr1.hg19:g.44035436G>T	ENSP00000353030:p.Lys185Asn		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	hg19	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906136	0.72868	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.82	0.168	0.15012	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35805	N	0.002976	T	0.64638	0.2616	N	0.20610	0.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.91635	0.997;0.995;0.999;0.94	T	0.59716	-0.7402	10	0.37606	T	0.19	.	9.6408	0.39837	0.3951:0.0:0.6049:0.0	.	185;185;185;185	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	N	185	ENSP00000353030:K185N;ENSP00000398822:K185N;ENSP00000361491:K185N;ENSP00000361490:K185N;ENSP00000413306:K185N	ENSP00000353030:K185N	K	+	3	2	PTPRF	43808023	0.982000	0.34865	1.000000	0.80357	0.993000	0.82548	0.295000	0.19065	0.060000	0.16281	0.561000	0.74099	AAG		0.587	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44035436	G	T	44035436	3	4	256	1	0	0	0	0	1	0	0	0	12807	962	34	4	569	4	PTPRF	1	44035436	Missense_Mutation	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10	718762	44035436	205215185	3	15336											
CELSR2	1952	hgsc.bcm.edu	37	1	109801145	109801145	+	Silent	SNP	G	G	A			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr1:109801145G>A	ENST00000271332.3	+	2	3463	c.3402G>A	c.(3400-3402)gaG>gaA	p.E1134E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1134	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCGCCTGGAGGACATGTCAC	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)											0													42	36	38					1																	109801145		2203	4300	6503	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3402G>A	chr1.hg19:g.109801145G>A			Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	hg19	CCDS796.1																																																																																				0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109801145	G	A	109801145	2	1	256	1	0	0	0	0	0	0	0	1	3224	991	35	2		2	CELSR2	1	109801145	Silent	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10	65765709	109801145	139449476	4	15337											
PTPN22	26191	hgsc.bcm.edu	37	1	114397574	114397574	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr1:114397574C>T	ENST00000359785.5	-	8	773	c.638G>A	c.(637-639)cGt>cAt	p.R213H	PTPN22_ENST00000538253.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.R213H|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.R213H|PTPN22_ENST00000534519.1_5'Flank	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	213	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGTAACAACGTACATCCCA	0.408																																																0													178	156	163					1																	114397574		2203	4300	6503	SO:0001583	missense	26191			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.638G>A	chr1.hg19:g.114397574C>T	ENSP00000352833:p.Arg213His		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	hg19	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473320	0.96274	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000420377;ENST00000354605	D;D;D	0.84516	-1.86;-1.86;-1.86	6.16	6.16	0.99307	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91563	0.7335	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	0.983;1.0;1.0;1.0	P;D;D;D	0.97110	0.835;1.0;0.994;0.994	D	0.91177	0.4973	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	213;213;213;213	E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;PTN22_HUMAN	H	213	ENSP00000352833:R213H;ENSP00000435176:R213H;ENSP00000388229:R213H	ENSP00000346621:R213H	R	-	2	0	PTPN22	114199097	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.496000	0.60360	2.937000	0.99478	0.650000	0.86243	CGT		0.408	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		T	114397574	C	T	114397574	3	4	256	1	0	0	0	0	1	0	0	0	12793	536	19	1	1864	1	PTPN22	1	114397574	Missense_Mutation	SNP	C	TCGA-B3-A6W5-01A-12D-A33Q-10	4596429	114397574	134853047	5	15338											
SYCP1	6847	hgsc.bcm.edu	37	1	115453123	115453123	+	Splice_Site	SNP	G	G	A			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr1:115453123G>A	ENST00000369522.3	+	17	1665		c.e17+1		SYCP1_ENST00000369518.1_Splice_Site	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCCAGAGAGGTTTGTTTAAG	0.259																																																0													40	46	44					1																	115453123		2199	4290	6489	SO:0001630	splice_region_variant	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1425+1G>A	chr1.hg19:g.115453123G>A			O14963|Q5VXJ6	Splice_Site	SNP	ENST00000369522.3	hg19	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300500	0.60195	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0505	0.64732	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYCP1	115254646	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.024000	0.64090	2.440000	0.82611	0.467000	0.42956	.		0.259	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	Intron	A	115453123	G	A	115453123	5	1	256	1	0	0	0	0	0	0	1	0	15436	1275	44	2	1488	2	SYCP1	1	115453123	Splice_Site	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10	1055549	115453123	133797498	6	15339											
ADCY10	55811	hgsc.bcm.edu	37	1	167829047	167829047	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr1:167829047G>T	ENST00000367851.4	-	16	2078	c.1894C>A	c.(1894-1896)Ctg>Atg	p.L632M	ADCY10_ENST00000545172.1_Missense_Mutation_p.L479M|ADCY10_ENST00000367848.1_Missense_Mutation_p.L540M	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	632					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCTCTTACCAGCTTCAAGATC	0.423																																																0													205	216	212					1																	167829047		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1894C>A	chr1.hg19:g.167829047G>T	ENSP00000356825:p.Leu632Met		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	hg19	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429730	0.25726	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.66280	-0.2;-0.2;-0.2	5.4	2.21	0.28008	.	0.644144	0.15119	N	0.279490	T	0.20292	0.0488	N	0.08118	0	0.20307	N	0.999911	B;B;B	0.19583	0.037;0.037;0.022	B;B;B	0.14023	0.01;0.01;0.004	T	0.04041	-1.0982	9	0.48119	T	0.1	-6.5051	8.477	0.33018	0.0:0.1476:0.549:0.3034	.	479;540;632	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	M	479;632;540	ENSP00000441992:L479M;ENSP00000356825:L632M;ENSP00000356822:L540M	ENSP00000356822:L540M	L	-	1	2	ADCY10	166095671	0.936000	0.31750	1.000000	0.80357	0.434000	0.31775	0.414000	0.21164	0.701000	0.31803	0.655000	0.94253	CTG		0.423	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		T	167829047	G	T	167829047	3	4	256	1	0	0	0	0	1	0	0	0	293	962	34	4	3010	4	ADCY10	1	167829047	Missense_Mutation	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10	52375924	167829047	81421574	7	15340											
RAB3GAP2	25782	hgsc.bcm.edu	37	1	220345388	220345388	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr1:220345388G>A	ENST00000358951.2	-	23	2536	c.2420C>T	c.(2419-2421)gCc>gTc	p.A807V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	807					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTCATCGATGGCCACTATAGG	0.423																																																0													45	44	44					1																	220345388		2203	4300	6503	SO:0001583	missense	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2420C>T	chr1.hg19:g.220345388G>A	ENSP00000351832:p.Ala807Val		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	hg19	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250887	0.59212	.	.	ENSG00000118873	ENST00000358951	T	0.32753	1.44	5.71	5.71	0.89125	.	0.048492	0.85682	D	0.000000	T	0.40932	0.1137	L	0.31065	0.9	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.05500	-1.0881	10	0.02654	T	1	.	19.8635	0.96793	0.0:0.0:1.0:0.0	.	807	Q9H2M9	RBGPR_HUMAN	V	807	ENSP00000351832:A807V	ENSP00000351832:A807V	A	-	2	0	RAB3GAP2	218412011	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.901000	0.92560	2.700000	0.92200	0.650000	0.86243	GCC		0.423	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		A	220345388	G	A	220345388	3	1	256	1	0	0	0	0	1	0	0	0	12942	1203	42	2	1813	2	RAB3GAP2	1	220345388	Missense_Mutation	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10	52516341	220345388	28905233	8	15341											
OBSCN	84033	hgsc.bcm.edu	37	1	228468061	228468061	+	Silent	SNP	A	A	G			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr1:228468061A>G	ENST00000422127.1	+	29	7889	c.7845A>G	c.(7843-7845)gtA>gtG	p.V2615V	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.V3044V|OBSCN_ENST00000359599.6_Silent_p.V1462V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.V2615V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2615	Ig-like 25.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACACGCTGGTACTGAAGAGCA	0.632																																																0													35	41	39					1																	228468061		2126	4221	6347	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7845A>G	chr1.hg19:g.228468061A>G			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	hg19	CCDS58065.1																																																																																				0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228468061	A	G	228468061	2	3	256	1	0	0	0	0	0	0	0	1	10814	378	14	3		3	OBSCN	1	228468061	Silent	SNP	A	TCGA-B3-A6W5-01A-12D-A33Q-10	8122673	228468061	20782560	9	15342											
SNRNP200	23020	hgsc.bcm.edu	37	2	96950320	96950340	+	Splice_Site	DEL	ATACCTGGCGGGCAGAGGAGG	ATACCTGGCGGGCAGAGGAGG	-	rs372471318|rs376605359|rs190395367|rs143898031	byFrequency	TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	ATACCTGGCGGGCAGAGGAGG	ATACCTGGCGGGCAGAGGAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr2:96950320_96950340delATACCTGGCGGGCAGAGGAGG	ENST00000323853.5	-	31	4242_4245	c.4165_4168delCCTCCTCTGCCCGCCAGGTAT	c.(4165-4170)cctcct>ct	p.PP1389del	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1389	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CAGTCCATGTATACCTGGCGGGCAGAGGAGGGAGGCAGAAC	0.529																																																0																																										SO:0001630	splice_region_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4165-1CCTCCTCTGCCCGCCAGGTAT>-	chr2.hg19:g.96950320_96950340delATACCTGGCGGGCAGAGGAGG			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Frame_Shift_Del	DEL	ENST00000323853.5	hg19	CCDS2020.1																																																																																				0.529	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	In_Frame_Del	-	96950340	ATACCTGGCGGGCAGAGGAGG	-	96950320	8	5	256	1	0	1	0	1	0	0	1	0	14858	449	16	0	2302	0	SNRNP200	2	96950320	Splice_Site	DEL	ATACCTGGCGGGCAGAGGAGG	TCGA-B3-A6W5-01A-12D-A33Q-10		96950320	146249053	10	15343											
LMAN2L	81562	hgsc.bcm.edu	37	2	97400231	97400231	+	Silent	SNP	C	C	T	rs199689213		TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr2:97400231C>T	ENST00000264963.4	-	3	361	c.339G>A	c.(337-339)gtG>gtA	p.V113V	LMAN2L_ENST00000377079.4_Silent_p.V113V|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000426463.2_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	113	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TTTTGAAGTGCACCTGCAACT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		21277	0.0		0.0	False		,,,				2504	0.001															0													193	171	178					2																	97400231		2203	4300	6503	SO:0001819	synonymous_variant	81562			AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.339G>A	chr2.hg19:g.97400231C>T			B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	hg19	CCDS2023.1																																																																																				0.478	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		T	97400231	C	T	97400231	2	4	256	1	0	0	0	0	0	0	0	1	8841	697	25	2		2	LMAN2L	2	97400231	Silent	SNP	C	TCGA-B3-A6W5-01A-12D-A33Q-10	449911	97400231	145799142	11	15344											
FN1	2335	hgsc.bcm.edu	37	2	216269139	216269139	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr2:216269139G>A	ENST00000359671.1	-	20	3491	c.3226C>T	c.(3226-3228)Ccc>Tcc	p.P1076S	FN1_ENST00000345488.5_Missense_Mutation_p.P1076S|FN1_ENST00000432072.2_Missense_Mutation_p.P1076S|FN1_ENST00000354785.4_Missense_Mutation_p.P1076S|FN1_ENST00000336916.4_Missense_Mutation_p.P1076S|FN1_ENST00000357867.4_Missense_Mutation_p.P1076S|FN1_ENST00000346544.3_Missense_Mutation_p.P1076S|FN1_ENST00000357009.2_Missense_Mutation_p.P1076S|FN1_ENST00000446046.1_Missense_Mutation_p.P1076S|FN1_ENST00000443816.1_Missense_Mutation_p.P1076S|FN1_ENST00000356005.4_Missense_Mutation_p.P1076S|FN1_ENST00000323926.6_Missense_Mutation_p.P1076S|FN1_ENST00000421182.1_Missense_Mutation_p.P1076S			P02751	FINC_HUMAN	fibronectin 1	1076	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GTGGCTTTGGGGCTCTCTTGG	0.443																																																0													96	92	93					2																	216269139		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3226C>T	chr2.hg19:g.216269139G>A	ENSP00000352696:p.Pro1076Ser		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.97	2.989242	0.53934	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.83	5.83	0.93111	.	0.090164	0.46758	D	0.000261	T	0.61800	0.2376	N	0.25647	0.755	0.37259	D	0.906904	P;B;B;P;P;B;P;D;D;B	0.76494	0.925;0.03;0.028;0.925;0.891;0.055;0.792;0.998;0.999;0.338	P;B;B;P;P;B;P;D;D;B	0.87578	0.79;0.062;0.054;0.661;0.688;0.089;0.507;0.998;0.998;0.287	T	0.65861	-0.6065	10	0.48119	T	0.1	.	9.6598	0.39947	0.0:0.233:0.5644:0.2026	.	1076;1076;1076;1076;1076;1076;1076;1076;1076;1076	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	S	1076	ENSP00000394423:P1076S;ENSP00000323534:P1076S;ENSP00000338200:P1076S;ENSP00000350534:P1076S;ENSP00000346839:P1076S;ENSP00000352696:P1076S;ENSP00000265312:P1076S;ENSP00000273049:P1076S;ENSP00000349509:P1076S;ENSP00000410422:P1076S;ENSP00000415018:P1076S;ENSP00000399538:P1076S;ENSP00000348285:P1076S	ENSP00000265313:P1076S	P	-	1	0	FN1	215977384	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.440000	0.35024	2.770000	0.95276	0.655000	0.94253	CCC		0.443	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		A	216269139	G	A	216269139	3	1	256	1	0	0	0	0	1	0	0	0	5964	1232	43	2	4315	2	FN1	2	216269139	Missense_Mutation	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10	118868908	216269139	26930234	12	15345											
COL4A3	1285	hgsc.bcm.edu	37	2	228172490	228172490	+	Silent	SNP	A	A	C			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr2:228172490A>C	ENST00000396578.3	+	48	4479	c.4317A>C	c.(4315-4317)gcA>gcC	p.A1439A	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1439	Epitope recognized by Goodpasture antibodies.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATCACCTGCAACCTGGACAA	0.473																																																0													114	112	113					2																	228172490		1987	4165	6152	SO:0001819	synonymous_variant	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4317A>C	chr2.hg19:g.228172490A>C			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	hg19	CCDS42829.1																																																																																				0.473	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		C	228172490	A	C	228172490	2	2	256	1	0	0	0	0	0	0	0	1	3693	117	5	5		5	COL4A3	2	228172490	Silent	SNP	A	TCGA-B3-A6W5-01A-12D-A33Q-10	11903351	228172490	15026883	13	15346											
SH3TC1	54436	hgsc.bcm.edu	37	4	8238155	8238155	+	Splice_Site	SNP	G	G	C	rs546239040		TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr4:8238155G>C	ENST00000245105.3	+	16	3623	c.3556G>C	c.(3556-3558)Ggg>Cgg	p.G1186R	SH3TC1_ENST00000539824.1_Splice_Site_p.G1110R	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1186										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CATCACCCTGGGTAAGCCCCC	0.647																																					NSCLC(145;2298 2623 35616 37297)											0													28	25	26					4																	8238155		2043	3933	5976	SO:0001630	splice_region_variant	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3556+1G>C	chr4.hg19:g.8238155G>C			Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	hg19	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282626	0.59867	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.79352	-1.0;-1.26	3.71	3.71	0.42584	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	D	0.87265	0.6134	M	0.78049	2.395	0.58432	D	0.999994	D	0.89917	1.0	D	0.81914	0.995	D	0.89430	0.3716	10	0.87932	D	0	-34.6905	15.0602	0.71947	0.0:0.0:1.0:0.0	.	1186	Q8TE82	S3TC1_HUMAN	R	1186;1110;1015	ENSP00000245105:G1186R;ENSP00000441045:G1110R	ENSP00000245105:G1186R	G	+	1	0	SH3TC1	8289055	1.000000	0.71417	0.995000	0.50966	0.242000	0.25591	7.799000	0.85936	2.108000	0.64289	0.555000	0.69702	GGG		0.647	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	Missense_Mutation	C	8238155	G	C	8238155	5	2	256	1	0	0	0	0	0	0	1	0	14267	1246	43	4	3614	4	SH3TC1	4	8238155	Splice_Site	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10		8238155	182916121	14	15347											
ARHGAP24	83478	hgsc.bcm.edu	37	4	86491717	86491717	+	Missense_Mutation	SNP	C	C	T	rs377269441	byFrequency	TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr4:86491717C>T	ENST00000395184.1	+	2	489	c.23C>T	c.(22-24)aCg>aTg	p.T8M	ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.T8M	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	8					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AATGACTCCACGGAGAACCCC	0.473													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17976	0.0		0.0	False		,,,				2504	0.0															0								C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	71	63	66		23	-1.1	0	4		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARHGAP24	NM_001025616.2	81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	8/749	86491717	3,13003	2203	4300	6503	SO:0001583	missense	83478			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.23C>T	chr4.hg19:g.86491717C>T	ENSP00000378611:p.Thr8Met		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	hg19	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821481	0.32237	4.54E-4	1.16E-4	ENSG00000138639	ENST00000395184;ENST00000503995	T;T	0.13307	2.84;2.6	5.81	-1.08	0.09936	Pleckstrin homology-type (1);	1.720280	0.02385	N	0.079112	T	0.05960	0.0155	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.13145	0.0;0.0;0.007	B;B;B	0.09377	0.001;0.001;0.004	T	0.34079	-0.9843	10	0.33141	T	0.24	.	7.8497	0.29446	0.0:0.3655:0.118:0.5164	.	8;8;153	Q8N264;Q8N264-4;Q8N264-5	RHG24_HUMAN;.;.	M	8	ENSP00000378611:T8M;ENSP00000423206:T8M	ENSP00000378611:T8M	T	+	2	0	ARHGAP24	86710741	0.000000	0.05858	0.000000	0.03702	0.979000	0.70002	-0.748000	0.04818	-0.625000	0.05604	0.655000	0.94253	ACG		0.473	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		T	86491717	C	T	86491717	3	4	256	1	0	0	0	0	1	0	0	0	873	536	19	1	25	1	ARHGAP24	4	86491717	Missense_Mutation	SNP	C	TCGA-B3-A6W5-01A-12D-A33Q-10	78253562	86491717	104662559	15	15348											
CD180	4064	hgsc.bcm.edu	37	5	66479374	66479374	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr5:66479374G>T	ENST00000256447.4	-	3	1454	c.1297C>A	c.(1297-1299)Cac>Aac	p.H433N	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	433					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GCATTAATGTGTAAGCGGGTA	0.453																																																0													175	182	179					5																	66479374		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1297C>A	chr5.hg19:g.66479374G>T	ENSP00000256447:p.His433Asn		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	hg19	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	G	0.265	-0.997055	0.02145	.	.	ENSG00000134061	ENST00000256447	T	0.56941	0.43	4.81	1.92	0.25849	.	0.981481	0.08336	N	0.961541	T	0.34077	0.0885	L	0.27975	0.815	0.09310	N	1	B	0.25235	0.121	B	0.23018	0.043	T	0.25257	-1.0137	10	0.16420	T	0.52	.	4.3619	0.11206	0.0748:0.1263:0.41:0.3888	.	433	Q99467	CD180_HUMAN	N	433	ENSP00000256447:H433N	ENSP00000256447:H433N	H	-	1	0	CD180	66515130	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.155000	0.10115	0.185000	0.20105	0.563000	0.77884	CAC		0.453	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		T	66479374	G	T	66479374	3	4	256	1	0	0	0	0	1	0	0	0	2974	1377	48	4	692	4	CD180	5	66479374	Missense_Mutation	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10		66479374	114435886	16	15349											
KDM3B	51780	hgsc.bcm.edu	37	5	137728920	137728920	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr5:137728920C>T	ENST00000314358.5	+	9	2890	c.2690C>T	c.(2689-2691)cCc>cTc	p.P897L	KDM3B_ENST00000394866.1_Missense_Mutation_p.P553L|KDM3B_ENST00000542866.1_5'UTR	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	897					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCTGGAGAGCCCTTCCTGCAG	0.512																																																0													127	114	118					5																	137728920		2203	4300	6503	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2690C>T	chr5.hg19:g.137728920C>T	ENSP00000326563:p.Pro897Leu		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	hg19	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382255	0.82792	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.70045	0.14;-0.45	6.08	6.08	0.98989	.	0.210265	0.51477	D	0.000095	T	0.62780	0.2456	N	0.22421	0.69	0.80722	D	1	P;B	0.46512	0.879;0.374	P;B	0.45998	0.5;0.084	T	0.63919	-0.6528	10	0.51188	T	0.08	-18.7842	20.2751	0.98485	0.0:1.0:0.0:0.0	.	553;897	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	L	897;687;553	ENSP00000326563:P897L;ENSP00000378335:P553L	ENSP00000326563:P897L	P	+	2	0	KDM3B	137756819	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.890000	0.99128	0.655000	0.94253	CCC		0.512	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		T	137728920	C	T	137728920	3	4	256	1	0	0	0	0	1	0	0	0	8129	623	22	2	2724	2	KDM3B	5	137728920	Missense_Mutation	SNP	C	TCGA-B3-A6W5-01A-12D-A33Q-10	71249546	137728920	43186340	17	15350											
WWC1	23286	hgsc.bcm.edu	37	5	167881045	167881045	+	Silent	SNP	A	A	G	rs201870717|rs116415672	byFrequency	TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr5:167881045A>G	ENST00000265293.4	+	18	3100	c.2598A>G	c.(2596-2598)ggA>ggG	p.G866G	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.G866G	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	866	Glu-rich.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		aggaggagggagaagaggaTG	0.542																																																0													119	113	115					5																	167881045		2202	4300	6502	SO:0001819	synonymous_variant	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2598A>G	chr5.hg19:g.167881045A>G			B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	hg19	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	A	4.385	0.071000	0.08436	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	4.51	0.519	0.17035	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.20840	-1.0263	4	.	.	.	.	1.5039	0.02482	0.5457:0.1811:0.099:0.1742	.	.	.	.	G	828;643	.	.	R	+	1	2	WWC1	167813623	0.495000	0.26051	0.050000	0.19076	0.001000	0.01503	0.164000	0.16542	-0.074000	0.12820	-0.499000	0.04595	AGA		0.542	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		G	167881045	A	G	167881045	2	3	256	1	0	0	0	0	0	0	0	1	17416	291	11	3		3	WWC1	5	167881045	Silent	SNP	A	TCGA-B3-A6W5-01A-12D-A33Q-10	30152125	167881045	13034215	18	15351											
C6orf167	253714	hgsc.bcm.edu	37	6	97702477	97702477	+	Missense_Mutation	SNP	C	C	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr6:97702477C>T	ENST00000275053.4	-	10	1340	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	MMS22L_ENST00000369251.2_Missense_Mutation_p.A359T	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	359					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TAAAATGATGCTACATGAGTA	0.333																																																0													116	116	116					6																	97702477		2203	4300	6503	SO:0001583	missense	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1075G>A	chr6.hg19:g.97702477C>T	ENSP00000275053:p.Ala359Thr		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	hg19	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768632	0.90020	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018;ENST00000482634	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.09	5.09	0.68999	.	0.237263	0.35067	N	0.003479	T	0.58708	0.2141	M	0.69823	2.125	0.51482	D	0.999929	D;D	0.67145	0.996;0.981	P;P	0.61800	0.894;0.715	T	0.64228	-0.6457	10	0.72032	D	0.01	-5.7806	16.6752	0.85277	0.0:1.0:0.0:0.0	.	359;359	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	T	359;359;247;51	ENSP00000275053:A359T;ENSP00000358254:A359T;ENSP00000427288:A247T;ENSP00000421225:A51T	ENSP00000275053:A359T	A	-	1	0	MMS22L	97809198	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.404000	0.66344	2.364000	0.80123	0.655000	0.94253	GCA		0.333	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		T	97702477	C	T	97702477	3	4	256	1	0	0	0	0	1	0	0	0	2344	797	28	2	2720	2	C6orf167	6	97702477	Missense_Mutation	SNP	C	TCGA-B3-A6W5-01A-12D-A33Q-10		97702477	73412590	19	15352											
TTYH3	80727	hgsc.bcm.edu	37	7	2671817	2671817	+	Missense_Mutation	SNP	T	T	C			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr7:2671817T>C	ENST00000258796.7	+	1	233	c.28T>C	c.(28-30)Tgg>Cgg	p.W10R	TTYH3_ENST00000407643.1_Missense_Mutation_p.W10R	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	10					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCGGCGCCCTGGTGGGTGAG	0.751																																																0													7	9	8					7																	2671817		2139	4188	6327	SO:0001583	missense	80727				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.28T>C	chr7.hg19:g.2671817T>C	ENSP00000258796:p.Trp10Arg		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	hg19	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544055	0.45280	.	.	ENSG00000136295	ENST00000258796;ENST00000407643	T;T	0.10382	2.89;2.88	4.09	2.9	0.33743	.	0.164594	0.43919	U	0.000511	T	0.27559	0.0677	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.00862	-1.1536	10	0.36615	T	0.2	.	8.2175	0.31521	0.1789:0.0:0.0:0.8211	.	10	Q9C0H2	TTYH3_HUMAN	R	10	ENSP00000258796:W10R;ENSP00000385316:W10R	ENSP00000258796:W10R	W	+	1	0	TTYH3	2638343	0.969000	0.33509	1.000000	0.80357	0.546000	0.35178	1.685000	0.37659	0.544000	0.28883	0.260000	0.18958	TGG		0.751	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		C	2671817	T	C	2671817	3	2	256	1	0	0	0	0	1	0	0	0	16746	1580	55	3	30	3	TTYH3	7	2671817	Missense_Mutation	SNP	T	TCGA-B3-A6W5-01A-12D-A33Q-10		2671817	156466846	20	15353											
KCTD7	154881	hgsc.bcm.edu	37	7	66103373	66103373	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr7:66103373G>A	ENST00000275532.3	+	3	632	c.448G>A	c.(448-450)Gag>Aag	p.E150K	KCTD7_ENST00000443322.1_Missense_Mutation_p.E150K	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	150					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ACTGAAGGGCGAGAAGGTGCG	0.597																																																0													89	76	80					7																	66103373		2203	4300	6503	SO:0001583	missense	154881			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.448G>A	chr7.hg19:g.66103373G>A	ENSP00000275532:p.Glu150Lys		A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	hg19	CCDS5534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.2|25.2	4.608515|4.608515	0.87258|0.87258	.|.	.|.	ENSG00000243335|ENSG00000243335	ENST00000275532;ENST00000443322|ENST00000449064	T;T|.	0.66460|.	-0.21;-0.21|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.467978	.|0.15967	.|N	.|0.235981	T|T	0.75766|0.75766	0.3894|0.3894	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	P|.	0.43412|.	0.806|.	B|.	0.41202|.	0.35|.	T|T	0.74166|0.74166	-0.3753|-0.3753	9|7	0.42905|0.56958	T|D	0.14|0.05	.|.	19.3421|19.3421	0.94347|0.94347	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	150|.	Q96MP8|.	KCTD7_HUMAN|.	K|Q	150|93	ENSP00000275532:E150K;ENSP00000411624:E150K|.	ENSP00000275532:E150K|ENSP00000388463:R93Q	E|R	+|+	1|2	0|0	KCTD7|KCTD7	65740808|65740808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.152000|9.152000	0.94680|0.94680	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.597	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		A	66103373	G	A	66103373	3	1	256	1	0	0	0	0	1	0	0	0	8116	1059	37	1	458	1	KCTD7	7	66103373	Missense_Mutation	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10	63431556	66103373	93035290	21	15354											
PAXIP1	22976	hgsc.bcm.edu	37	7	154760427	154760427	+	Missense_Mutation	SNP	T	T	A			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr7:154760427T>A	ENST00000404141.1	-	7	1638	c.1484A>T	c.(1483-1485)cAt>cTt	p.H495L	PAXIP1_ENST00000397192.1_Missense_Mutation_p.H495L|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	495	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ctgcagggcatgctgctgctg	0.602																																																0													31	36	34					7																	154760427		1789	3250	5039	SO:0001583	missense	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1484A>T	chr7.hg19:g.154760427T>A	ENSP00000384048:p.His495Leu		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	hg19	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.732484	0.48939	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000323199	D;D	0.89746	-2.56;-2.56	4.81	4.81	0.61882	.	0.000000	0.45867	U	0.000323	T	0.80253	0.4589	L	0.29908	0.895	0.39697	D	0.971138	B;B;B;B	0.33238	0.18;0.403;0.403;0.18	B;B;B;B	0.28232	0.04;0.087;0.087;0.04	T	0.77803	-0.2451	10	0.10377	T	0.69	-8.3358	14.0572	0.64776	0.0:0.0:0.0:1.0	.	448;404;461;495	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	L	495;495;448	ENSP00000384048:H495L;ENSP00000380376:H495L	ENSP00000319149:H448L	H	-	2	0	PAXIP1	154391360	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.606000	0.54095	1.796000	0.52611	0.528000	0.53228	CAT		0.602	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		A	154760427	T	A	154760427	3	1	256	1	0	0	0	0	1	0	0	0	11489	1464	51	5	1785	5	PAXIP1	7	154760427	Missense_Mutation	SNP	T	TCGA-B3-A6W5-01A-12D-A33Q-10	88657054	154760427	4378236	22	15355											
NCOA2	10499	hgsc.bcm.edu	37	8	71040937	71040937	+	Splice_Site	SNP	C	C	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr8:71040937C>T	ENST00000452400.2	-	17	3784	c.3603G>A	c.(3601-3603)caG>caA	p.Q1201Q	NCOA2_ENST00000267974.4_Splice_Site_p.Q289Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1201					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AAGAACAGACCTGCTGTGCTT	0.562			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													98	100	100					8																	71040937		2043	4181	6224	SO:0001630	splice_region_variant	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3603+1G>A	chr8.hg19:g.71040937C>T			Q14CD2	Silent	SNP	ENST00000452400.2	hg19	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012869	0.54468	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	T	0.74989	0.3789	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72191	-0.4365	4	.	.	.	.	18.4423	0.90671	0.0:1.0:0.0:0.0	.	.	.	.	K	302	.	.	R	-	2	0	NCOA2	71203491	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.981000	0.76166	2.793000	0.96121	0.655000	0.94253	AGA		0.562	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Silent	T	71040937	C	T	71040937	5	4	256	1	0	0	0	0	0	0	1	0	10231	695	24	2	819	2	NCOA2	8	71040937	Splice_Site	SNP	C	TCGA-B3-A6W5-01A-12D-A33Q-10		71040937	75323085	23	15356											
ZNF462	58499	hgsc.bcm.edu	37	9	109736499	109736500	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr9:109736499_109736500delCC	ENST00000277225.5	+	9	7066_7067	c.6777_6778delCC	c.(6775-6780)tgcctcfs	p.L2260fs	ZNF462_ENST00000457913.1_Frame_Shift_Del_p.L2320fs|ZNF462_ENST00000441147.2_Frame_Shift_Del_p.L1166fs|ZNF462_ENST00000542028.1_Frame_Shift_Del_p.L217fs|RP11-508N12.2_ENST00000439901.1_RNA			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2260					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTCCTCTCTGCCTCTATCACAC	0.53																																																0																																										SO:0001589	frameshift_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6777_6778delCC	chr9.hg19:g.109736499_109736500delCC	ENSP00000277225:p.Leu2260fs		Q5T0T4|Q8N408	Frame_Shift_Del	DEL	ENST00000277225.5	hg19	CCDS35096.1																																																																																				0.53	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		-	109736500	CC	-	109736499	7	5	256	1	0	1	0	1	0	0	0	0	17931	747	26	0	6807	0	ZNF462	9	109736499	Frame_Shift_Del	DEL	CC	TCGA-B3-A6W5-01A-12D-A33Q-10		109736499	31476932	24	15357											
SC5DL	6309	hgsc.bcm.edu	37	11	121174116	121174116	+	Missense_Mutation	SNP	A	A	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr11:121174116A>T	ENST00000392789.2	+	2	269	c.32A>T	c.(31-33)tAt>tTt	p.Y11F	SC5D_ENST00000534230.1_Missense_Mutation_p.Y11F|SC5D_ENST00000264027.4_Missense_Mutation_p.Y11F	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	11					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										GCAGATTACTATTTTTTTACA	0.383																																																0													159	144	149					11																	121174116		2203	4299	6502	SO:0001583	missense	6309				CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"Fatty acid hydroxylase domain containing"	10547	protein-coding gene	gene with protein product	"lathosterol oxidase"	602286	"sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.32A>T	chr11.hg19:g.121174116A>T	ENSP00000376539:p.Tyr11Phe		O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	hg19	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562520	0.45694	.	.	ENSG00000109929	ENST00000264027;ENST00000527762;ENST00000534230;ENST00000392789	D;D;D;D	0.86627	-1.76;-1.77;-2.15;-1.76	6.01	4.87	0.63330	.	0.112103	0.64402	D	0.000006	D	0.85440	0.5697	M	0.74881	2.28	0.32097	N	0.59109	B;P;P	0.45348	0.027;0.704;0.856	B;B;B	0.41440	0.027;0.221;0.357	D	0.85106	0.0960	10	0.27082	T	0.32	-11.9118	10.2655	0.43452	0.7368:0.0:0.0:0.2632	.	11;11;11	O75845;E9PQ91;E9PPW5	SC5D_HUMAN;.;.	F	11	ENSP00000264027:Y11F;ENSP00000436290:Y11F;ENSP00000432550:Y11F;ENSP00000376539:Y11F	ENSP00000264027:Y11F	Y	+	2	0	SC5DL	120679326	1.000000	0.71417	0.224000	0.23877	0.434000	0.31775	6.037000	0.70956	1.080000	0.41073	0.528000	0.53228	TAT		0.383	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		T	121174116	A	T	121174116	3	4	256	1	0	0	0	0	1	0	0	0	13872	449	16	5	34	5	SC5DL	11	121174116	Missense_Mutation	SNP	A	TCGA-B3-A6W5-01A-12D-A33Q-10		121174116	13832400	25	15358											
KRT3	3850	hgsc.bcm.edu	37	12	53183951	53183951	+	Missense_Mutation	SNP	C	C	T	rs570613061|rs60125653	byFrequency	TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr12:53183951C>T	ENST00000417996.2	-	9	1836	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	KRT3_ENST00000309505.3_Missense_Mutation_p.G589S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	588	Gly-rich.|Tail.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCAAAgccgctgccaccg	0.697																																																0													14	31	25					12																	53183951		1574	3123	4697	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1762G>A	chr12.hg19:g.53183951C>T	ENSP00000413479:p.Gly588Ser		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	hg19	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307617	0.40795	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.91351	-2.83;-2.83	3.4	-1.34	0.09143	.	0.507655	0.14827	N	0.296110	T	0.80149	0.4570	N	0.22421	0.69	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.65302	-0.6201	10	0.34782	T	0.22	.	7.4497	0.27231	0.0:0.4872:0.0:0.5128	.	588	P12035	K2C3_HUMAN	S	588;589	ENSP00000413479:G588S;ENSP00000312206:G589S	ENSP00000312206:G589S	G	-	1	0	KRT3	51470218	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.682000	0.01935	-0.284000	0.09102	-0.258000	0.10820	GGC		0.697	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		T	53183951	C	T	53183951	3	4	256	1	0	0	0	0	1	0	0	0	8468	652	23	1	128	1	KRT3	12	53183951	Missense_Mutation	SNP	C	TCGA-B3-A6W5-01A-12D-A33Q-10		53183951	80667944	26	15359											
C13orf39	196541	hgsc.bcm.edu	37	13	103343200	103343200	+	Missense_Mutation	SNP	T	T	A			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr13:103343200T>A	ENST00000267273.6	-	2	250	c.245A>T	c.(244-246)gAa>gTa	p.E82V		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	82					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CTCTATGGATTCCTGGATGAC	0.463																																																0													158	134	142					13																	103343200		2203	4300	6503	SO:0001583	missense	196541				CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"chromosome 13 open reading frame 39"	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.245A>T	chr13.hg19:g.103343200T>A	ENSP00000267273:p.Glu82Val			Missense_Mutation	SNP	ENST00000267273.6	hg19	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.898708	0.91962	.	.	ENSG00000139780	ENST00000267273	T	0.08008	3.14	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30090	-0.9990	10	0.66056	D	0.02	-13.0518	15.9872	0.80168	0.0:0.0:0.0:1.0	.	82	Q5VZV1	MT21C_HUMAN	V	82	ENSP00000267273:E82V	ENSP00000267273:E82V	E	-	2	0	METTL21C	102141201	1.000000	0.71417	0.632000	0.29296	0.950000	0.60333	7.423000	0.80229	2.367000	0.80283	0.528000	0.53228	GAA		0.463	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		A	103343200	T	A	103343200	3	1	256	1	0	0	0	0	1	0	0	0	1734	1783	62	5	561	5	C13orf39	13	103343200	Missense_Mutation	SNP	T	TCGA-B3-A6W5-01A-12D-A33Q-10		103343200	11826678	27	15360											
NTRK3	4916	hgsc.bcm.edu	37	15	88576204	88576204	+	Missense_Mutation	SNP	G	G	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr15:88576204G>T	ENST00000360948.2	-	13	1630	c.1469C>A	c.(1468-1470)aCg>aAg	p.T490K	NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Missense_Mutation_p.T482K|NTRK3_ENST00000540489.2_Missense_Mutation_p.T490K|NTRK3_ENST00000542733.2_Missense_Mutation_p.T392K|NTRK3_ENST00000558676.1_Missense_Mutation_p.T482K|NTRK3_ENST00000355254.2_Missense_Mutation_p.T490K|NTRK3_ENST00000394480.2_Missense_Mutation_p.T490K|NTRK3_ENST00000357724.2_Missense_Mutation_p.T482K|NTRK3_ENST00000317501.3_Missense_Mutation_p.T490K	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	490					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGACGAGGGCGTGGTGATGCC	0.607			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													101	63	76					15																	88576204		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1469C>A	chr15.hg19:g.88576204G>T	ENSP00000354207:p.Thr490Lys		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	hg19	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990206	0.74589	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74209	-0.82;-0.78;-0.74;-0.82;-0.72;-0.05;-0.05	4.91	3.96	0.45880	.	0.049576	0.85682	D	0.000000	T	0.74245	0.3691	L	0.55213	1.73	0.58432	D	0.999999	P;P;P;D;P;D	0.55800	0.605;0.91;0.873;0.973;0.904;0.964	B;B;P;P;P;P	0.49528	0.205;0.298;0.535;0.47;0.493;0.614	T	0.76471	-0.2947	10	0.72032	D	0.01	.	11.0307	0.47772	0.0945:0.0:0.9055:0.0	.	392;482;482;490;490;490	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	K	490;490;482;490;392;490;490	ENSP00000377990:T490K;ENSP00000354207:T490K;ENSP00000350356:T482K;ENSP00000347397:T490K;ENSP00000437773:T392K;ENSP00000444673:T490K;ENSP00000318328:T490K	ENSP00000318328:T490K	T	-	2	0	NTRK3	86377208	1.000000	0.71417	0.758000	0.31321	0.749000	0.42624	3.300000	0.51834	1.209000	0.43321	0.650000	0.86243	ACG		0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				T	88576204	G	T	88576204	3	4	256	1	0	0	0	0	1	0	0	0	10710	1145	40	4	1340	4	NTRK3	15	88576204	Missense_Mutation	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10		88576204	13955188	28	15361											
RECQL5	9400	hgsc.bcm.edu	37	17	73654500	73654500	+	Missense_Mutation	SNP	A	A	G			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr17:73654500A>G	ENST00000317905.5	-	7	1186	c.1027T>C	c.(1027-1029)Tac>Cac	p.Y343H	RECQL5_ENST00000423245.2_Missense_Mutation_p.Y316H|RECQL5_ENST00000420326.2_Missense_Mutation_p.Y343H|RECQL5_ENST00000340830.5_Missense_Mutation_p.Y343H|RECQL5_ENST00000584999.1_Missense_Mutation_p.Y343H	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	343	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCTGGTAGTACCCAGCCATA	0.547								Other identified genes with known or suspected DNA repair function																																								0													115	117	116					17																	73654500		2203	4300	6503	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1027T>C	chr17.hg19:g.73654500A>G	ENSP00000317636:p.Tyr343His		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	hg19	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.766636	0.49574	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.80480	-1.38;-1.38;-1.38	5.84	5.84	0.93424	Helicase, C-terminal (3);	0.059843	0.64402	D	0.000001	D	0.93776	0.8010	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.95965	0.8965	10	0.87932	D	0	-12.8087	16.2108	0.82158	1.0:0.0:0.0:0.0	.	343;316;343	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	H	343	ENSP00000317636:Y343H;ENSP00000414933:Y343H;ENSP00000341983:Y343H	ENSP00000317636:Y343H	Y	-	1	0	RECQL5	71166095	1.000000	0.71417	0.981000	0.43875	0.775000	0.43874	9.339000	0.96797	2.232000	0.73038	0.533000	0.62120	TAC		0.547	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		G	73654500	A	G	73654500	3	3	256	1	0	0	0	0	1	0	0	0	13209	391	14	3	2091	3	RECQL5	17	73654500	Missense_Mutation	SNP	A	TCGA-B3-A6W5-01A-12D-A33Q-10		73654500	7540710	29	15362											
ZNF257	113835	hgsc.bcm.edu	37	19	22272080	22272084	+	Frame_Shift_Del	DEL	ACTGG	ACTGG	-	rs368738613		TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	ACTGG	ACTGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr19:22272080_22272084delACTGG	ENST00000594947.1	+	4	1672_1676	c.1528_1532delACTGG	c.(1528-1533)actggafs	p.TG510fs		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GATAATTCATACTGGAGAGAAACCC	0.39																																																0																																										SO:0001589	frameshift_variant	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1528_1532delACTGG	chr19.hg19:g.22272080_22272084delACTGG	ENSP00000470209:p.Thr510fs		B3KPS4|E9PG34|Q8NE34	Frame_Shift_Del	DEL	ENST00000594947.1	hg19	CCDS46030.1																																																																																				0.39	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			-	22272084	ACTGG	-	22272080	7	5	256	1	0	1	0	1	0	0	0	0	17805	391	14	0	1542	0	ZNF257	19	22272080	Frame_Shift_Del	DEL	ACTGG	TCGA-B3-A6W5-01A-12D-A33Q-10		22272080	36856903	30	15363											
CEACAM3	1084	hgsc.bcm.edu	37	19	42314872	42314872	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr19:42314872G>A	ENST00000357396.3	+	6	871	c.630G>A	c.(628-630)atG>atA	p.M210I	CEACAM3_ENST00000221999.4_Missense_Mutation_p.V193I|CEACAM3_ENST00000344550.4_Missense_Mutation_p.V193I	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	210						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GTCCACAGATGTCCCCTCTCT	0.577																																																0													96	83	88					19																	42314872		2203	4300	6503	SO:0001583	missense	1084			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.630G>A	chr19.hg19:g.42314872G>A	ENSP00000349971:p.Met210Ile		G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	hg19	CCDS12586.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.335|0.335	-0.954094|-0.954094	0.02285|0.02285	.|.	.|.	ENSG00000170956|ENSG00000170956	ENST00000357396|ENST00000221999;ENST00000344550	T|T;T	0.01113|0.01165	5.32|5.24;5.24	2.13|2.13	-4.26|-4.26	0.03755|0.03755	.|.	.|.	.|.	.|.	.|.	T|T	0.00815|0.00815	0.0027|0.0027	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|B	0.13594|0.31174	0.008|0.311	B|B	0.15052|0.23716	0.012|0.048	T|T	0.43718|0.43718	-0.9374|-0.9374	8|9	.|0.59425	.|D	.|0.04	.|.	1.0806|1.0806	0.01642|0.01642	0.2181:0.1802:0.4221:0.1797|0.2181:0.1802:0.4221:0.1797	.|.	210|193	P40198|G5E978	CEAM3_HUMAN|.	I|I	210|193	ENSP00000349971:M210I|ENSP00000221999:V193I;ENSP00000341725:V193I	.|ENSP00000221999:V193I	M|V	+|+	3|1	0|0	CEACAM3|CEACAM3	47006712|47006712	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.916000|-1.916000	0.01576|0.01576	-1.442000|-1.442000	0.01955|0.01955	-1.295000|-1.295000	0.01343|0.01343	ATG|GTC		0.577	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		A	42314872	G	A	42314872	3	1	256	1	0	0	0	0	1	0	0	0	3195	1377	48	2	652	2	CEACAM3	19	42314872	Missense_Mutation	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10	20042792	42314872	16814111	31	15364											
ADAMTS1	9510	hgsc.bcm.edu	37	21	28213400	28213400	+	Missense_Mutation	SNP	G	G	A			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr21:28213400G>A	ENST00000284984.3	-	4	1749	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	432	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GGAAAGCATTGACGCCATCAT	0.483																																																0													219	161	181					21																	28213400		2203	4300	6503	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1295C>T	chr21.hg19:g.28213400G>A	ENSP00000284984:p.Ser432Leu		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	hg19	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767069	0.90020	.	.	ENSG00000154734	ENST00000284984;ENST00000517777	T;D	0.87179	3.86;-2.22	5.35	5.35	0.76521	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.92724	0.7687	M	0.68317	2.08	0.80722	D	1	D	0.64830	0.994	D	0.67725	0.953	D	0.92773	0.6234	9	0.87932	D	0	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	432	Q9UHI8	ATS1_HUMAN	L	432;170	ENSP00000284984:S432L;ENSP00000429557:S170L	ENSP00000284984:S432L	S	-	2	0	ADAMTS1	27135271	1.000000	0.71417	0.358000	0.25811	0.795000	0.44927	9.208000	0.95075	2.941000	0.99782	0.655000	0.94253	TCA		0.483	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			A	28213400	G	A	28213400	3	1	256	1	0	0	0	0	1	0	0	0	255	1294	45	2	1632	2	ADAMTS1	21	28213400	Missense_Mutation	SNP	G	TCGA-B3-A6W5-01A-12D-A33Q-10		28213400	19916495	32	15365											
KCNJ15	3772	hgsc.bcm.edu	37	21	39671219	39671219	+	Silent	SNP	C	C	A			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr21:39671219C>A	ENST00000328656.4	+	4	339	c.36C>A	c.(34-36)ccC>ccA	p.P12P	KCNJ15_ENST00000398938.2_Silent_p.P12P|KCNJ15_ENST00000398934.1_Silent_p.P12P|KCNJ15_ENST00000398932.1_Silent_p.P12P|KCNJ15_ENST00000398930.1_Silent_p.P12P	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	12					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CCAGCACCCCCCTGGTGAAGC	0.527																																																0													56	52	53					21																	39671219		2203	4300	6503	SO:0001819	synonymous_variant	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.36C>A	chr21.hg19:g.39671219C>A			D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	hg19	CCDS13656.1																																																																																				0.527	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		A	39671219	C	A	39671219	2	1	256	1	0	0	0	0	0	0	0	1	8051	610	22	4		4	KCNJ15	21	39671219	Silent	SNP	C	TCGA-B3-A6W5-01A-12D-A33Q-10	11457819	39671219	8458676	33	15366											
PSMG1	8624	hgsc.bcm.edu	37	21	40555300	40555300	+	Silent	SNP	C	C	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr21:40555300C>T	ENST00000331573.3	-	1	477	c.12G>A	c.(10-12)acG>acA	p.T4T	PSMG1_ENST00000380900.2_Silent_p.T4T|AF129408.17_ENST00000608767.1_RNA	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	4				T -> S (in Ref. 3; CAG46650). {ECO:0000305}.	cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CTCCGAAGAACGTGGCCGCCA	0.721																																																0													11	9	10					21																	40555300		2170	4244	6414	SO:0001819	synonymous_variant	8624			AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"Down syndrome critical region gene 2"	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.12G>A	chr21.hg19:g.40555300C>T			B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Silent	SNP	ENST00000331573.3	hg19	CCDS13660.1																																																																																				0.721	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141404.2	NM_003720		T	40555300	C	T	40555300	2	4	256	1	0	0	0	0	0	0	0	1	12716	523	19	1		1	PSMG1	21	40555300	Silent	SNP	C	TCGA-B3-A6W5-01A-12D-A33Q-10	884081	40555300	7574595	34	15367											
SREBF2	6721	hgsc.bcm.edu	37	22	42274013	42274013	+	Silent	SNP	C	C	T			TCGA-B3-A6W5-01A-12D-A33Q-10	TCGA-B3-A6W5-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec2328b7-a0f9-49c8-b4e9-a58bbe773253	2943c0fb-d6d4-4cfb-af57-36d91e6005ba	g.chr22:42274013C>T	ENST00000361204.4	+	9	1813	c.1647C>T	c.(1645-1647)gtC>gtT	p.V549V		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	549					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GTGTGATTGTCCTGAGCGTCT	0.557																																																0													158	149	152					22																	42274013		2203	4300	6503	SO:0001819	synonymous_variant	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1647C>T	chr22.hg19:g.42274013C>T			Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	hg19	CCDS14023.1																																																																																				0.557	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		T	42274013	C	T	42274013	2	4	256	1	0	0	0	0	0	0	0	1	15147	842	30	2		2	SREBF2	22	42274013	Silent	SNP	C	TCGA-B3-A6W5-01A-12D-A33Q-10		42274013	9030553	35	15368											
AGMAT	79814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	15909873	15909873	+	Missense_Mutation	SNP	A	A	G	rs148899500		TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr1:15909873A>G	ENST00000375826.3	-	2	432	c.290T>C	c.(289-291)aTc>aCc	p.I97T	DNAJC16_ENST00000483270.1_Intron|RP4-680D5.2_ENST00000428945.1_RNA	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	97					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)	p.I97T(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTCCCGGATGCGGCGAGG	0.547																																					NSCLC(126;1678 1780 25805 43508 49531)											1	Substitution - Missense(1)	kidney(1)						A	THR/ILE	2,4404	4.2+/-10.8	0,2,2201	51	46	48		290	5.1	1	1	dbSNP_134	48	0,8600		0,0,4300	no	missense	AGMAT	NM_024758.4	89	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	probably-damaging	97/353	15909873	2,13004	2203	4300	6503	SO:0001583	missense	79814			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.290T>C	1.37:g.15909873A>G	ENSP00000364986:p.Ile97Thr		Q5TDH1|Q9H5J3	Missense_Mutation	SNP	ENST00000375826.3	37	CCDS160.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874290	0.72180	4.54E-4	0.0	ENSG00000116771	ENST00000375826	T	0.41758	0.99	5.13	5.13	0.70059	Ureohydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	H	0.99487	4.59	0.50313	D	0.999869	D	0.89917	1.0	D	0.97110	1.0	D	0.88180	0.2870	10	0.87932	D	0	-23.1425	13.8194	0.63311	1.0:0.0:0.0:0.0	.	97	Q9BSE5	SPEB_HUMAN	T	97	ENSP00000364986:I97T	ENSP00000364986:I97T	I	-	2	0	AGMAT	15782460	1.000000	0.71417	0.994000	0.49952	0.680000	0.39746	8.364000	0.90105	1.952000	0.56665	0.456000	0.33151	ATC		0.547	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		G	15909873	A	G	15909873	3	3	257	1	0	0	0	0	1	0	0	0	385	333	12	3	792	3	AGMAT	1	15909873	Missense_Mutation	SNP	A	TCGA-B4-5377-01A-01D-1501-10		15909873	233340748	1	15369											
HRNR	388697	broad.mit.edu	37	1	152192654	152192654	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr1:152192654C>A	ENST00000368801.2	-	3	1526	c.1451G>T	c.(1450-1452)gGc>gTc	p.G484V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	484					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G484V(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTGAGCCAGATCCATG	0.537																																																1	Substitution - Missense(1)	kidney(1)											289	272	278					1																	152192654		2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1451G>T	1.37:g.152192654C>A	ENSP00000357791:p.Gly484Val		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	c	8.879	0.951156	0.18431	.	.	ENSG00000197915	ENST00000368801	T	0.01981	4.52	3.79	3.79	0.43588	.	.	.	.	.	T	0.02156	0.0067	L	0.27053	0.805	0.35959	D	0.83449	D	0.89917	1.0	D	0.77004	0.989	T	0.64529	-0.6386	9	0.15952	T	0.53	.	11.0581	0.47931	0.0:1.0:0.0:0.0	.	484	Q86YZ3	HORN_HUMAN	V	484	ENSP00000357791:G484V	ENSP00000357791:G484V	G	-	2	0	HRNR	150459278	0.000000	0.05858	0.192000	0.23308	0.006000	0.05464	-0.202000	0.09451	1.957000	0.56846	0.499000	0.49734	GGC		0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152192654	C	A	152192654	3	1	257	1	0	0	0	0	1	0	0	0	7361	739	26	4	7105	4	HRNR	1	152192654	Missense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10	136282781	152192654	97057967	2	15370											
CLK1	1195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201725966	201725966	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr2:201725966G>A	ENST00000321356.4	-	3	520	c.385C>T	c.(385-387)Cat>Tat	p.H129Y	Y_RNA_ENST00000516950.1_RNA|CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000434813.2_Missense_Mutation_p.H171Y	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	129					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.H129Y(1)|p.H171Y(1)|p.H129N(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CATACCCCATGTGAACGACGA	0.358																																																3	Substitution - Missense(3)	kidney(2)|lung(1)											150	150	150					2																	201725966		2203	4300	6503	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.385C>T	2.37:g.201725966G>A	ENSP00000326830:p.His129Tyr		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239134	0.39598	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	T;T	0.67171	-0.23;-0.25	4.42	4.42	0.53409	.	0.366537	0.28572	N	0.014879	T	0.66386	0.2784	L	0.60455	1.87	0.42164	D	0.991618	P;P	0.37176	0.586;0.586	B;B	0.40534	0.332;0.332	T	0.70594	-0.4829	10	0.49607	T	0.09	.	15.1958	0.73088	0.0:0.0:1.0:0.0	.	171;129	B4DFW7;P49759	.;CLK1_HUMAN	Y	129;129;171	ENSP00000326830:H129Y;ENSP00000394734:H171Y	ENSP00000326830:H129Y	H	-	1	0	CLK1	201434211	0.998000	0.40836	0.999000	0.59377	0.986000	0.74619	4.167000	0.58209	2.179000	0.69175	0.650000	0.86243	CAT		0.358	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			A	201725966	G	A	201725966	3	1	257	1	0	0	0	0	1	0	0	0	3538	1377	48	2	1113	2	CLK1	2	201725966	Missense_Mutation	SNP	G	TCGA-B4-5377-01A-01D-1501-10		201725966	41473407	3	15371											
DNER	92737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	230411681	230411681	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr2:230411681G>T	ENST00000341772.4	-	5	1109	c.975C>A	c.(973-975)tgC>tgA	p.C325*		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	325	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.C325*(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GCTTCGTGGTGCATTTTCCTT	0.448																																																1	Substitution - Nonsense(1)	kidney(1)											216	174	188					2																	230411681		2203	4300	6503	SO:0001587	stop_gained	92737			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.975C>A	2.37:g.230411681G>T	ENSP00000345229:p.Cys325*		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Nonsense_Mutation	SNP	ENST00000341772.4	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	38	7.004769	0.97994	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	.	.	.	5.8	0.0557	0.14316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0883	0.48099	0.5479:0.0:0.4521:0.0	.	.	.	.	X	325;53	.	ENSP00000345229:C325X	C	-	3	2	DNER	230119925	0.985000	0.35326	0.968000	0.41197	0.989000	0.77384	0.085000	0.14912	0.066000	0.16515	0.650000	0.86243	TGC		0.448	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		T	230411681	G	T	230411681	4	4	257	1	0	0	0	0	0	1	0	0	4669	1311	46	4	1274	4	DNER	2	230411681	Nonsense_Mutation	SNP	G	TCGA-B4-5377-01A-01D-1501-10	28685715	230411681	12787692	4	15372											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu	37	3	52692333	52692333	+	Splice_Site	SNP	T	T	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr3:52692333T>A	ENST00000296302.7	-	5	530		c.e5-2		PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(6)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGGAGAAGACTGGTAATGTGG	0.358			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Unknown(6)	kidney(6)											58	54	55					3																	52692333		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.529-2A>T	3.37:g.52692333T>A			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	12.70	2.017545	0.35606	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5401	0.61668	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52667373	1.000000	0.71417	0.903000	0.35520	0.156000	0.22039	5.704000	0.68347	1.943000	0.56356	0.524000	0.50904	.		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	A	52692333	T	A	52692333	5	1	257	1	0	0	0	0	0	0	1	0	11493	1594	55	5	4477	5	PBRM1	3	52692333	Splice_Site	SNP	T	TCGA-B4-5377-01A-01D-1501-10		52692333	145330097	5	15373											
ROBO2	6092	broad.mit.edu;ucsc.edu	37	3	77651362	77651362	+	Splice_Site	SNP	T	T	C			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr3:77651362T>C	ENST00000461745.1	+	20	3756	c.2856T>C	c.(2854-2856)gaT>gaC	p.D952D	ROBO2_ENST00000332191.8_Splice_Site_p.D952D|ROBO2_ENST00000487694.3_Splice_Site_p.D968D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	952					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.D952D(1)|p.D968D(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCACCACAGATGTGCTGCCAC	0.438																																																2	Substitution - coding silent(2)	kidney(2)											95	93	94					3																	77651362		1991	4162	6153	SO:0001630	splice_region_variant	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2855-1T>C	3.37:g.77651362T>C			O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.10|12.10	1.837506|1.837506	0.32513|0.32513	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000471893|ENST00000490991	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|.	.|.	.|.	.|.	T|T	0.72326|0.72326	0.3446|0.3446	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73244|0.73244	-0.4044|-0.4044	3|3	.|.	.|.	.|.	.|.	16.2002|16.2002	0.82067|0.82067	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	R|T	27|109	.|.	.|.	C|M	+|+	1|2	0|0	ROBO2|ROBO2	77734052|77734052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.404000|7.404000	0.79996|0.79996	2.231000|2.231000	0.72958|0.72958	0.454000|0.454000	0.30748|0.30748	TGT|ATG		0.438	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	Silent	C	77651362	T	C	77651362	5	2	257	1	0	0	0	0	0	0	1	0	13520	1478	51	3	2936	3	ROBO2	3	77651362	Splice_Site	SNP	T	TCGA-B4-5377-01A-01D-1501-10	24959029	77651362	120371068	6	15374											
ASTE1	28990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130743620	130743620	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr3:130743620G>T	ENST00000264992.3	-	3	972	c.531C>A	c.(529-531)agC>agA	p.S177R	NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000412440.2_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.S177R|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000356918.4_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	177					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.S177R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TCCACTGAAAGCTATTCAATG	0.388																																																1	Substitution - Missense(1)	kidney(1)											68	68	68					3																	130743620		2203	4300	6503	SO:0001583	missense	28990			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.531C>A	3.37:g.130743620G>T	ENSP00000264992:p.Ser177Arg		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	G	3.331	-0.136628	0.06711	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	.	.	.	5.52	2.13	0.27403	.	0.491335	0.26397	N	0.024616	T	0.45955	0.1368	L	0.61218	1.895	0.40170	D	0.977167	P;P	0.42584	0.784;0.662	B;B	0.42138	0.377;0.377	T	0.37314	-0.9711	9	0.19590	T	0.45	-1.348	8.104	0.30874	0.1884:0.1286:0.683:0.0	.	177;177	D6RG30;Q2TB18	.;ASTE1_HUMAN	R	177	.	ENSP00000264992:S177R	S	-	3	2	ASTE1	132226310	0.196000	0.23350	0.979000	0.43373	0.064000	0.16182	0.516000	0.22817	1.338000	0.45544	-0.140000	0.14226	AGC		0.388	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		T	130743620	G	T	130743620	3	4	257	1	0	0	0	0	1	0	0	0	1062	962	34	4	1524	4	ASTE1	3	130743620	Missense_Mutation	SNP	G	TCGA-B4-5377-01A-01D-1501-10	53092258	130743620	67278810	7	15375											
SIAH2	6478	broad.mit.edu	37	3	150460088	150460088	+	Missense_Mutation	SNP	C	C	T	rs543249698		TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr3:150460088C>T	ENST00000312960.3	-	2	1342	c.815G>A	c.(814-816)cGg>cAg	p.R272Q		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	272	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R272Q(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTCAATCTCCGCCGGTTCCC	0.562																																																1	Substitution - Missense(1)	kidney(1)											92	73	79					3																	150460088		2203	4300	6503	SO:0001583	missense	6478			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"seven in absentia (Drosophila) homolog 2", "seven in absentia homolog 2 (Drosophila)"			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.815G>A	3.37:g.150460088C>T	ENSP00000322457:p.Arg272Gln		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467483	0.96257	.	.	ENSG00000181788	ENST00000312960	T	0.26660	1.72	5.81	5.81	0.92471	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	M	0.93939	3.475	0.50467	D	0.999871	D	0.76494	0.999	P	0.59546	0.859	T	0.68542	-0.5381	10	0.72032	D	0.01	.	15.1984	0.73116	0.0:0.9312:0.0:0.0688	.	272	O43255	SIAH2_HUMAN	Q	272	ENSP00000322457:R272Q	ENSP00000322457:R272Q	R	-	2	0	SIAH2	151942778	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.080000	0.71299	2.746000	0.94184	0.591000	0.81541	CGG		0.562	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		T	150460088	C	T	150460088	3	4	257	1	0	0	0	0	1	0	0	0	14306	652	23	1	163	1	SIAH2	3	150460088	Missense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10	19716468	150460088	47562342	8	15376											
MED12L	116931	broad.mit.edu;ucsc.edu	37	3	151134124	151134124	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr3:151134124delC	ENST00000474524.1	+	41	6255	c.6217delC	c.(6217-6219)cccfs	p.P2073fs	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2073	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			gcagccccagccccagcagcc	0.542																																																0													24	28	27					3																	151134124		2203	4299	6502	SO:0001589	frameshift_variant	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6217delC	3.37:g.151134124delC	ENSP00000417235:p.Pro2073fs		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	CCDS33876.1																																																																																				0.542	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		-	151134124	C	-	151134124	7	5	257	1	0	1	0	1	0	0	0	0	9431	739	26	0	6379	0	MED12L	3	151134124	Frame_Shift_Del	DEL	C	TCGA-B4-5377-01A-01D-1501-10	674036	151134124	46888306	9	15377											
IFT80	57560	broad.mit.edu;ucsc.edu	37	3	160025463	160025463	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr3:160025463C>A	ENST00000326448.7	-	10	1496	c.1064G>T	c.(1063-1065)tGt>tTt	p.C355F	IFT80_ENST00000483465.1_Missense_Mutation_p.C218F|IFT80_ENST00000496589.1_Missense_Mutation_p.C218F|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.C526F	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	355					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.C355F(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAACACGTAACATTGAAGAGA	0.368																																																1	Substitution - Missense(1)	kidney(1)											120	111	114					3																	160025463		2203	4300	6503	SO:0001583	missense	57560			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1064G>T	3.37:g.160025463C>A	ENSP00000312778:p.Cys355Phe		B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102694	0.76983	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000483325	T;T;T	0.80304	2.33;-1.36;-1.36	5.21	5.21	0.72293	WD40 repeat-like-containing domain (1);	0.000000	0.64402	U	0.000003	D	0.91492	0.7314	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92483	0.5994	10	0.56958	D	0.05	.	18.7743	0.91904	0.0:1.0:0.0:0.0	.	355	Q9P2H3	IFT80_HUMAN	F	355;218;218;36	ENSP00000312778:C355F;ENSP00000418196:C218F;ENSP00000420646:C218F	ENSP00000312778:C355F	C	-	2	0	IFT80	161508157	1.000000	0.71417	0.994000	0.49952	0.798000	0.45092	7.021000	0.76425	2.439000	0.82584	0.650000	0.86243	TGT		0.368	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		A	160025463	C	A	160025463	3	1	257	1	0	0	0	0	1	0	0	0	7566	478	17	4	1313	4	IFT80	3	160025463	Missense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10	8891339	160025463	37996967	10	15378											
ZBBX	79740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167045872	167045872	+	Silent	SNP	A	A	G			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr3:167045872A>G	ENST00000392766.2	-	11	1060	c.720T>C	c.(718-720)cgT>cgC	p.R240R	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Silent_p.R240R|ZBBX_ENST00000307529.5_Silent_p.R240R|ZBBX_ENST00000392764.1_Silent_p.R211R|ZBBX_ENST00000455345.2_Silent_p.R240R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	240						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R240R(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGGTTTTGTACGTTGTGCTC	0.353																																																2	Substitution - coding silent(2)	kidney(2)											212	191	198					3																	167045872		1858	4097	5955	SO:0001819	synonymous_variant	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.720T>C	3.37:g.167045872A>G			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																				0.353	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		G	167045872	A	G	167045872	2	3	257	1	0	0	0	0	0	0	0	1	17521	378	14	3		3	ZBBX	3	167045872	Silent	SNP	A	TCGA-B4-5377-01A-01D-1501-10	7020409	167045872	30976558	11	15379											
CLDN16	10686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	190106143	190106143	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr3:190106143G>T	ENST00000264734.2	+	1	483	c.235G>T	c.(235-237)Gct>Tct	p.A79S	CLDN16_ENST00000456423.1_Missense_Mutation_p.A79S|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	79					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.A79S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TCAATACATCGCTTGCTTCTT	0.512																																																1	Substitution - Missense(1)	kidney(1)											310	272	285					3																	190106143		2203	4300	6503	SO:0001583	missense	10686			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.235G>T	3.37:g.190106143G>T	ENSP00000264734:p.Ala79Ser			Missense_Mutation	SNP	ENST00000264734.2	37	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664862	0.29604	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.93712	-2.67;-3.27	5.91	5.91	0.95273	.	0.077448	0.52532	D	0.000064	D	0.94509	0.8232	L	0.56769	1.78	0.24098	N	0.995882	D;B	0.61080	0.989;0.027	P;B	0.55161	0.77;0.065	D	0.89753	0.3941	10	0.52906	T	0.07	-24.523	15.7957	0.78409	0.0:0.0:1.0:0.0	.	79;79	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	S	79	ENSP00000264734:A79S;ENSP00000414136:A79S	ENSP00000264734:A79S	A	+	1	0	CLDN16	191588837	0.791000	0.28800	0.785000	0.31869	0.069000	0.16628	5.006000	0.63978	2.805000	0.96524	0.460000	0.39030	GCT		0.512	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		T	190106143	G	T	190106143	3	4	257	1	0	0	0	0	1	0	0	0	3479	1087	38	4	237	4	CLDN16	3	190106143	Missense_Mutation	SNP	G	TCGA-B4-5377-01A-01D-1501-10	23060271	190106143	7916287	12	15380											
HSPA4L	22824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	128725181	128725181	+	Silent	SNP	A	A	G			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr4:128725181A>G	ENST00000296464.4	+	8	1335	c.924A>G	c.(922-924)caA>caG	p.Q308Q	HSPA4L_ENST00000439123.2_Silent_p.Q339Q|HSPA4L_ENST00000508776.1_Silent_p.Q308Q|HSPA4L_ENST00000505726.1_Silent_p.Q282Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	308					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.Q308Q(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AATTTGAACAACTGTGTGCTT	0.363																																																1	Substitution - coding silent(1)	kidney(1)											90	88	89					4																	128725181		2203	4300	6503	SO:0001819	synonymous_variant	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.924A>G	4.37:g.128725181A>G			A2ICT2|Q4W5M5|Q8IWA2	Silent	SNP	ENST00000296464.4	37	CCDS3734.1																																																																																				0.363	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		G	128725181	A	G	128725181	2	3	257	1	0	0	0	0	0	0	0	1	7415	40	2	3		3	HSPA4L	4	128725181	Silent	SNP	A	TCGA-B4-5377-01A-01D-1501-10		128725181	62429095	13	15381											
ZCCHC9	84240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	80600728	80600728	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr5:80600728A>G	ENST00000254037.2	+	1	3307	c.152A>G	c.(151-153)aAt>aGt	p.N51S	ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.N51S|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.N51S|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.N51S			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	51					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N51S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TCCCTCAAAAATGATGCACCC	0.388																																																1	Substitution - Missense(1)	kidney(1)											86	84	85					5																	80600728		2203	4300	6503	SO:0001583	missense	84240			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"Zinc fingers, CCHC domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25424	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 41"					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.152A>G	5.37:g.80600728A>G	ENSP00000254037:p.Asn51Ser		B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	A	9.619	1.133228	0.21041	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.33	2.9	0.33743	.	0.769128	0.13304	N	0.397992	T	0.33235	0.0856	L	0.46157	1.445	0.21064	N	0.999792	B	0.10296	0.003	B	0.08055	0.003	T	0.19811	-1.0294	10	0.33141	T	0.24	-11.2667	7.3482	0.26676	0.7479:0.0:0.2521:0.0	.	51	Q8N567	ZCHC9_HUMAN	S	51	ENSP00000254037:N51S;ENSP00000385047:N51S;ENSP00000369546:N51S;ENSP00000412637:N51S	ENSP00000254037:N51S	N	+	2	0	ZCCHC9	80636484	0.837000	0.29446	0.551000	0.28230	0.705000	0.40729	1.196000	0.32198	0.854000	0.35336	0.533000	0.62120	AAT		0.388	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		G	80600728	A	G	80600728	3	3	257	1	0	0	0	0	1	0	0	0	17600	101	4	3	154	3	ZCCHC9	5	80600728	Missense_Mutation	SNP	A	TCGA-B4-5377-01A-01D-1501-10		80600728	100314532	14	15382											
PJA2	9867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	108717359	108717359	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr5:108717359C>A	ENST00000361189.2	-	3	316	c.77G>T	c.(76-78)gGa>gTa	p.G26V	PJA2_ENST00000511624.1_5'UTR|PJA2_ENST00000361557.3_Missense_Mutation_p.G26V	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	26					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G26V(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CTGATACCCTCCTGCTGGTTT	0.408																																																1	Substitution - Missense(1)	kidney(1)											94	91	92					5																	108717359		2202	4300	6502	SO:0001583	missense	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.77G>T	5.37:g.108717359C>A	ENSP00000354775:p.Gly26Val		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551557	0.86127	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.23147	1.92;1.92	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.52917	0.1764	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52434	-0.8576	10	0.87932	D	0	-28.4911	19.8593	0.96777	0.0:1.0:0.0:0.0	.	26	O43164	PJA2_HUMAN	V	26	ENSP00000354775:G26V;ENSP00000355284:G26V	ENSP00000354775:G26V	G	-	2	0	PJA2	108745258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.046000	0.71029	2.700000	0.92200	0.557000	0.71058	GGA		0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		A	108717359	C	A	108717359	3	1	257	1	0	0	0	0	1	0	0	0	11964	855	30	4	2081	4	PJA2	5	108717359	Missense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10	28116631	108717359	72197901	15	15383											
GABRG2	2566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	161580106	161580106	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr5:161580106C>T	ENST00000361925.4	+	9	1356	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	GABRG2_ENST00000393933.4_Missense_Mutation_p.T284I|GABRG2_ENST00000414552.2_Missense_Mutation_p.T427I|GABRG2_ENST00000356592.3_Missense_Mutation_p.T387I			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	379					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T387I(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGGCCCCTACCATTGATATC	0.473																																																1	Substitution - Missense(1)	kidney(1)											101	93	96					5																	161580106		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1136C>T	5.37:g.161580106C>T	ENSP00000354651:p.Thr379Ile		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109975	0.37242	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.85629	-2.01;-2.01;-1.95;-1.95	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.168223	0.39615	N	0.001320	T	0.77532	0.4144	N	0.14661	0.345	0.58432	D	0.999999	B;B;B	0.18741	0.03;0.001;0.002	B;B;B	0.15052	0.012;0.008;0.008	T	0.70121	-0.4959	10	0.44086	T	0.13	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	427;379;387	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	I	387;427;379;284	ENSP00000349000:T387I;ENSP00000410732:T427I;ENSP00000354651:T379I;ENSP00000377510:T284I	ENSP00000349000:T387I	T	+	2	0	GABRG2	161512684	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.003000	0.70701	2.824000	0.97209	0.655000	0.94253	ACC		0.473	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			T	161580106	C	T	161580106	3	4	257	1	0	0	0	0	1	0	0	0	6174	507	18	2	1322	2	GABRG2	5	161580106	Missense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10	52862747	161580106	19335154	16	15384											
GRK6	2870	broad.mit.edu;hgsc.bcm.edu	37	5	176863239	176863239	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr5:176863239A>C	ENST00000355472.5	+	12	1391	c.1223A>C	c.(1222-1224)tAt>tCt	p.Y408S	GRK6_ENST00000528793.1_Missense_Mutation_p.Y408S|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000355958.5_Missense_Mutation_p.Y408S|GRK6_ENST00000393576.3_Missense_Mutation_p.Y374S|GRK6_ENST00000507633.1_Missense_Mutation_p.Y408S	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.Y408S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGAGGAGTATTCCGAGCGC	0.622																																																1	Substitution - Missense(1)	kidney(1)											61	71	68					5																	176863239		2203	4300	6503	SO:0001583	missense	2870				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1223A>C	5.37:g.176863239A>C	ENSP00000347655:p.Tyr408Ser		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316990	0.81469	.	.	ENSG00000198055	ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.60904	1.88	0.80722	D	1	D;D;D;D	0.71674	0.998;0.973;0.997;0.992	D;P;D;P	0.69824	0.966;0.865;0.943;0.806	T	0.47249	-0.9132	10	0.87932	D	0	-17.8683	16.0816	0.81007	1.0:0.0:0.0:0.0	.	408;378;408;408	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	S	408;408;374;408;408	ENSP00000347655:Y408S;ENSP00000427581:Y408S;ENSP00000377204:Y374S;ENSP00000348230:Y408S;ENSP00000433511:Y408S	ENSP00000347655:Y408S	Y	+	2	0	GRK6	176795845	1.000000	0.71417	0.996000	0.52242	0.759000	0.43091	7.261000	0.78400	2.211000	0.71520	0.454000	0.30748	TAT		0.622	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		C	176863239	A	C	176863239	3	2	257	1	0	0	0	0	1	0	0	0	6795	449	16	5	1269	5	GRK6	5	176863239	Missense_Mutation	SNP	A	TCGA-B4-5377-01A-01D-1501-10	15283133	176863239	4052021	17	15385											
POMZP3	22932	broad.mit.edu	37	7	76247520	76247520	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr7:76247520C>G	ENST00000310842.4	-	4	1009	c.325G>C	c.(325-327)Gct>Cct	p.A109P	POMZP3_ENST00000275569.4_Missense_Mutation_p.A109P|UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	109								p.A109P(2)		kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				GAGTCATTAGCAAAGTGGAAG	0.483																																																2	Substitution - Missense(2)	kidney(2)											8	10	10					7																	76247520		2051	4020	6071	SO:0001583	missense	22932			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"POM-ZP3 fusion protein", "POM121/ZP3 fusion protein"	600587	"POM (POM121 rat homolog) and ZP3 fusion", "POM (POM121 homolog, rat) and ZP3 fusion"			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.325G>C	7.37:g.76247520C>G	ENSP00000309233:p.Ala109Pro		F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	37	CCDS43606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	9.185|9.185	1.024596|1.024596	0.19433|0.19433	.|.	.|.	ENSG00000146707|ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397|ENST00000441393	T;T|.	0.81247|.	-1.47;-1.47|.	.|.	.|.	.|.	Zona pellucida sperm-binding protein (1);|.	0.441905|.	0.24841|.	U|.	0.035166|.	T|T	0.57095|0.57095	0.2030|0.2030	M|M	0.83012|0.83012	2.62|2.62	0.24240|0.24240	N|N	0.995361|0.995361	D|.	0.76494|.	0.999|.	D|.	0.74348|.	0.983|.	T|T	0.50617|0.50617	-0.8807|-0.8807	8|3	0.72032|.	D|.	0.01|.	.|.	.|.	.|.	.|.	.|.	109|.	Q6PJE2|.	POZP3_HUMAN|.	P|S	109;109;214|33	ENSP00000309233:A109P;ENSP00000405319:A214P|.	ENSP00000275569:A109P|.	A|C	-|-	1|2	0|0	POMZP3|POMZP3	76085456|76085456	0.969000|0.969000	0.33509|0.33509	0.748000|0.748000	0.31131|0.31131	0.709000|0.709000	0.40893|0.40893	1.582000|1.582000	0.36568|0.36568	0.392000|0.392000	0.25172|0.25172	0.391000|0.391000	0.25812|0.25812	GCT|TGC		0.483	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		G	76247520	C	G	76247520	3	3	257	1	0	0	0	0	1	0	0	0	12249	710	25	4	257	4	POMZP3	7	76247520	Missense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10		76247520	82891143	18	15386											
SEMA3D	223117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	84642124	84642124	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr7:84642124A>T	ENST00000284136.6	-	15	1785	c.1742T>A	c.(1741-1743)aTc>aAc	p.I581N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	581	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.I581N(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GCACTGGGTGATTGGGTCGCC	0.398																																					Ovarian(63;442 1191 17318 29975 31528)											1	Substitution - Missense(1)	kidney(1)											131	121	125					7																	84642124		2203	4300	6503	SO:0001583	missense	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1742T>A	7.37:g.84642124A>T	ENSP00000284136:p.Ile581Asn		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642229	0.47153	.	.	ENSG00000153993	ENST00000284136	T	0.22336	1.96	5.93	5.93	0.95920	.	0.228496	0.49305	D	0.000147	T	0.16642	0.0400	N	0.20530	0.585	0.80722	D	1	B	0.26744	0.158	B	0.23574	0.047	T	0.03325	-1.1048	10	0.52906	T	0.07	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	581	O95025	SEM3D_HUMAN	N	581	ENSP00000284136:I581N	ENSP00000284136:I581N	I	-	2	0	SEMA3D	84480060	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	5.175000	0.65021	2.265000	0.75225	0.533000	0.62120	ATC		0.398	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		T	84642124	A	T	84642124	3	4	257	1	0	0	0	0	1	0	0	0	14033	333	12	5	603	5	SEMA3D	7	84642124	Missense_Mutation	SNP	A	TCGA-B4-5377-01A-01D-1501-10	8394604	84642124	74496539	19	15387											
C7orf23	79161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	86827282	86827282	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr7:86827282A>G	ENST00000433078.1	-	4	650	c.209T>C	c.(208-210)tTg>tCg	p.L70S	TMEM243_ENST00000257637.3_Missense_Mutation_p.L70S|TMEM243_ENST00000481425.1_5'UTR|TMEM243_ENST00000423734.1_Missense_Mutation_p.L70S			Q9BU79	TM243_HUMAN	transmembrane protein 243, mitochondrial	70						integral component of membrane (GO:0016021)		p.L70S(1)									AATACTACTCAAAGAGATGCA	0.368																																																1	Substitution - Missense(1)	kidney(1)											145	128	134					7																	86827282		2203	4299	6502	SO:0001583	missense	0				CCDS5602.1	7q21.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000135185	ENSG00000135185			21707	protein-coding gene	gene with protein product	"MDR1 and mitochondrial taxol resistance associated gene"		"chromosome 7 open reading frame 23"	C7orf23			Standard	NM_024315		Approved	MGC4175, MM-TRAG	uc003uio.3	Q9BU79	OTTHUMG00000130823	ENST00000433078.1:c.209T>C	7.37:g.86827282A>G	ENSP00000398083:p.Leu70Ser		A4D1C6|B2R9I4|D6W5P1	Missense_Mutation	SNP	ENST00000433078.1	37	CCDS5602.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700700	0.88924	.	.	ENSG00000135185	ENST00000257637;ENST00000433078;ENST00000423734	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.80632	-0.1296	9	0.72032	D	0.01	-8.3378	15.1227	0.72457	1.0:0.0:0.0:0.0	.	70	Q9BU79	CG023_HUMAN	S	70	.	ENSP00000257637:L70S	L	-	2	0	C7orf23	86665218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.513000	0.90542	2.170000	0.68504	0.459000	0.35465	TTG		0.368	TMEM243-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334412.1	NM_024315		G	86827282	A	G	86827282	3	3	257	1	0	0	0	0	1	0	0	0	2381	131	5	3	155	3	C7orf23	7	86827282	Missense_Mutation	SNP	A	TCGA-B4-5377-01A-01D-1501-10	2185158	86827282	72311381	20	15388											
PRSS55	203074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	10396087	10396087	+	Silent	SNP	C	C	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr8:10396087C>A	ENST00000328655.3	+	5	883	c.843C>A	c.(841-843)acC>acA	p.T281T	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	281	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.T281T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGAAGAACACCCCAGGGATAT	0.557																																																2	Substitution - coding silent(2)	kidney(2)											105	111	109					8																	10396087		2203	4300	6503	SO:0001819	synonymous_variant	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.843C>A	8.37:g.10396087C>A			E5RJX5	Silent	SNP	ENST00000328655.3	37	CCDS5976.1																																																																																				0.557	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		A	10396087	C	A	10396087	2	1	257	1	0	0	0	0	0	0	0	1	12639	610	22	4		4	PRSS55	8	10396087	Silent	SNP	C	TCGA-B4-5377-01A-01D-1501-10		10396087	135967935	21	15389											
PCM1	5108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	17814231	17814232	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr8:17814231_17814232GA>TT	ENST00000519253.1	+	11	1842_1843	c.1591_1592GA>TT	c.(1591-1593)GAa>TTa	p.E531L	PCM1_ENST00000325083.8_Missense_Mutation_p.E531L|PCM1_ENST00000524226.1_Missense_Mutation_p.E531L			Q15154	PCM1_HUMAN	pericentriolar material 1	531					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.E531V(1)|p.E531*(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGAAGAAACTGAAGAGTCAGAA	0.356			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	2	Substitution - Nonsense(1)|Substitution - Missense(1)	kidney(2)																																								SO:0001583	missense	5108				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	Exception_encountered	8.37:g.17814231_17814232delinsTT	ENSP00000431099:p.Glu531Leu		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000519253.1	37																																																																																					0.356	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		TT	17814232	GA	TT	17814231	3	4	257	1	0	0	0	0	1	0	0	0	11586	1291	45	4	1625	4	PCM1	8	17814231	Missense_Mutation	DNP	GA	TCGA-B4-5377-01A-01D-1501-10	7418144	17814231	128549791	22	15390											
PRDM14	63978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	70981667	70981667	+	Silent	SNP	A	A	G			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr8:70981667A>G	ENST00000276594.2	-	2	630	c.429T>C	c.(427-429)tgT>tgC	p.C143C		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	143					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.C143C(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CAGGTCCACAACACGGGCCAC	0.587																																					NSCLC(129;99 1813 5906 40656 46114)											1	Substitution - coding silent(1)	kidney(1)											55	51	53					8																	70981667		2203	4300	6503	SO:0001819	synonymous_variant	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.429T>C	8.37:g.70981667A>G			Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																				0.587	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			G	70981667	A	G	70981667	2	3	257	1	0	0	0	0	0	0	0	1	12460	41	2	3		3	PRDM14	8	70981667	Silent	SNP	A	TCGA-B4-5377-01A-01D-1501-10	53167436	70981667	75382355	23	15391											
KCNB2	9312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	73480273	73480273	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr8:73480273T>A	ENST00000523207.1	+	2	892	c.304T>A	c.(304-306)Ttc>Atc	p.F102I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	102					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.F102I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CATTTTAAATTTCTACCGGAC	0.458																																																1	Substitution - Missense(1)	kidney(1)											77	80	79					8																	73480273		2203	4300	6503	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.304T>A	8.37:g.73480273T>A	ENSP00000430846:p.Phe102Ile		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	32	5.161254	0.94727	.	.	ENSG00000182674	ENST00000523207	D	0.82081	-1.57	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.35436	U	0.003202	D	0.92818	0.7716	M	0.93016	3.37	0.58432	D	0.999999	D	0.56746	0.977	D	0.65573	0.936	D	0.94313	0.7547	10	0.87932	D	0	.	16.0678	0.80897	0.0:0.0:0.0:1.0	.	102	Q92953	KCNB2_HUMAN	I	102	ENSP00000430846:F102I	ENSP00000430846:F102I	F	+	1	0	KCNB2	73642827	1.000000	0.71417	0.993000	0.49108	0.945000	0.59286	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	TTC		0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		A	73480273	T	A	73480273	3	1	257	1	0	0	0	0	1	0	0	0	8015	1841	64	5	306	5	KCNB2	8	73480273	Missense_Mutation	SNP	T	TCGA-B4-5377-01A-01D-1501-10	2498606	73480273	72883749	24	15392											
RIMS2	9699	broad.mit.edu;ucsc.edu	37	8	104513249	104513249	+	Silent	SNP	T	T	C			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr8:104513249T>C	ENST00000406091.3	+	1	135	c.135T>C	c.(133-135)gaT>gaC	p.D45D	RP11-1C8.4_ENST00000523422.1_RNA|RP11-1C8.4_ENST00000517376.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	45	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.D45D(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCGTCATGGATAGGCAGAAGA	0.627										HNSCC(12;0.0054)																																						2	Substitution - coding silent(2)	kidney(2)											42	49	47					8																	104513249		1975	4147	6122	SO:0001819	synonymous_variant	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.135T>C	8.37:g.104513249T>C			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000406091.3	37	CCDS55269.1																																																																																				0.627	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		C	104513249	T	C	104513249	2	2	257	1	0	0	0	0	0	0	0	1	13374	1403	49	3		3	RIMS2	8	104513249	Silent	SNP	T	TCGA-B4-5377-01A-01D-1501-10	31032976	104513249	41850773	25	15393											
COL22A1	169044	hgsc.bcm.edu;ucsc.edu	37	8	139638478	139638482	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	TTCTT	TTCTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr8:139638478_139638482delTTCTT	ENST00000303045.6	-	51	4114_4118	c.3668_3672delAAGAA	c.(3667-3672)aaagaafs	p.KE1223fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.KE1203fs|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1223	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGAGGGCCTTCTTTCCCCTAAAA	0.429										HNSCC(7;0.00092)																																						0																																										SO:0001589	frameshift_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3668_3672delAAGAA	8.37:g.139638478_139638482delTTCTT	ENSP00000303153:p.Lys1223fs		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	CCDS6376.1																																																																																				0.429	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		-	139638482	TTCTT	-	139638478	7	5	257	1	0	1	0	1	0	0	0	0	3683	1606	56	0	1268	0	COL22A1	8	139638478	Frame_Shift_Del	DEL	TTCTT	TCGA-B4-5377-01A-01D-1501-10	35125229	139638478	6725544	26	15394											
HEATR7A	727957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145275539	145275539	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr8:145275539C>T	ENST00000528919.1	+	12	1299	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	MROH1_ENST00000326134.5_Missense_Mutation_p.S393F|MROH1_ENST00000534366.1_Missense_Mutation_p.S393F|MROH1_ENST00000398656.4_Missense_Mutation_p.S393F	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	393								p.S393F(1)									TTTATCCTGTCTTCCATGAGG	0.547																																																1	Substitution - Missense(1)	kidney(1)											94	101	99					8																	145275539		2003	4158	6161	SO:0001583	missense	0				CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"maestro heat-like repeat containing"	26958	protein-coding gene	gene with protein product			"HEAT repeat containing 7A"	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.1178C>T	8.37:g.145275539C>T	ENSP00000435565:p.Ser393Phe		C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559640	0.45590	.	.	ENSG00000179832	ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134	T;T;T;T	0.05139	3.49;3.49;3.49;3.49	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.090248	0.45126	U	0.000387	T	0.20536	0.0494	M	0.72894	2.215	0.80722	D	1	D;D;D	0.63880	0.993;0.989;0.989	P;P;P	0.61477	0.889;0.768;0.768	T	0.00189	-1.1939	10	0.44086	T	0.13	.	14.2098	0.65756	0.0:1.0:0.0:0.0	.	393;393;393	Q8NDA8-2;E9PHY8;Q8NDA8	.;.;HTR7A_HUMAN	F	393	ENSP00000381649:S393F;ENSP00000436636:S393F;ENSP00000435565:S393F;ENSP00000321737:S393F	ENSP00000321737:S393F	S	+	2	0	HEATR7A	145347527	0.966000	0.33281	0.765000	0.31456	0.209000	0.24338	4.284000	0.58983	2.399000	0.81585	0.561000	0.74099	TCT		0.547	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		T	145275539	C	T	145275539	3	4	257	1	0	0	0	0	1	0	0	0	7036	913	32	2	1352	2	HEATR7A	8	145275539	Missense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10	5637061	145275539	1088483	27	15395											
TNC	3371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	117803275	117803275	+	Silent	SNP	G	G	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr9:117803275G>T	ENST00000350763.4	-	19	5748	c.5337C>A	c.(5335-5337)atC>atA	p.I1779I	TNC_ENST00000423613.2_Silent_p.I1506I|TNC_ENST00000345230.3_Silent_p.I1142I|TNC_ENST00000346706.3_Silent_p.I1233I|TNC_ENST00000340094.3_Silent_p.I1415I|TNC_ENST00000341037.4_Silent_p.I1597I|TNC_ENST00000537320.1_Silent_p.I1142I|TNC_ENST00000535648.1_Silent_p.I1324I|TNC_ENST00000542877.1_Silent_p.I1416I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1779	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.I1779I(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCATGGCGATGATGCTGACAA	0.507																																																1	Substitution - coding silent(1)	kidney(1)											204	169	181					9																	117803275		2203	4300	6503	SO:0001819	synonymous_variant	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5337C>A	9.37:g.117803275G>T			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	6.140	0.394044	0.11638	.	.	ENSG00000041982	ENST00000544972	.	.	.	6.08	5.16	0.70880	.	.	.	.	.	T	0.58666	0.2138	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57631	-0.7778	4	.	.	.	.	7.7397	0.28835	0.1361:0.1383:0.7256:0.0	.	.	.	.	N	342	.	.	H	-	1	0	TNC	116843096	1.000000	0.71417	0.352000	0.25734	0.547000	0.35210	1.581000	0.36558	1.525000	0.49052	0.655000	0.94253	CAT		0.507	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117803275	G	T	117803275	2	4	257	1	0	0	0	0	0	0	0	1	16275	1280	45	4		4	TNC	9	117803275	Silent	SNP	G	TCGA-B4-5377-01A-01D-1501-10		117803275	23410156	28	15396											
MCM10	55388	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	13213138	13213138	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr10:13213138C>T	ENST00000484800.2	+	3	327	c.224C>T	c.(223-225)gCc>gTc	p.A75V	MCM10_ENST00000378694.1_Missense_Mutation_p.A75V|MCM10_ENST00000378714.3_Missense_Mutation_p.A75V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	75	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.A75V(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GAAAATCTGGCCACTCTCTTT	0.488																																																1	Substitution - Missense(1)	kidney(1)											101	100	100					10																	13213138		2203	4300	6503	SO:0001583	missense	55388			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.224C>T	10.37:g.13213138C>T	ENSP00000418268:p.Ala75Val		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146650	0.57151	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.15834	2.4;2.4;2.39	5.91	4.03	0.46877	.	0.281705	0.40640	N	0.001051	T	0.24736	0.0600	M	0.62723	1.935	0.35079	D	0.763253	P;P;P	0.49185	0.92;0.908;0.851	B;P;B	0.45753	0.441;0.492;0.297	T	0.40232	-0.9574	10	0.62326	D	0.03	-13.593	14.249	0.66007	0.4112:0.5888:0.0:0.0	.	75;75;75	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	V	75	ENSP00000367986:A75V;ENSP00000418268:A75V;ENSP00000367966:A75V	ENSP00000354945:A75V	A	+	2	0	MCM10	13253144	0.934000	0.31675	0.620000	0.29132	0.688000	0.40055	1.885000	0.39678	0.802000	0.34089	0.655000	0.94253	GCC		0.488	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		T	13213138	C	T	13213138	3	4	257	1	0	0	0	0	1	0	0	0	9387	739	26	2	230	2	MCM10	10	13213138	Missense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10		13213138	122321609	29	15397											
RPS24	6229	broad.mit.edu	37	10	79814397	79814397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr10:79814397C>T	ENST00000440692.1	+	5	641	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	RPS24_ENST00000476545.1_3'UTR	NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	0					cellular protein metabolic process (GO:0044267)|erythrocyte homeostasis (GO:0034101)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|translation initiation factor binding (GO:0031369)	p.Q167*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			GGTTGTGTGGCAGGTAGAAGT	0.547																																																1	Substitution - Nonsense(1)	kidney(1)											46	48	48					10																	79814397		692	1591	2283	SO:0001587	stop_gained	6229			AB007159	CCDS7355.1, CCDS7356.1, CCDS44443.1	10q22	2011-04-06			ENSG00000138326	ENSG00000138326		"S ribosomal proteins"	10411	protein-coding gene	gene with protein product		602412				9027498, 9582194	Standard	NM_001142283		Approved	S24	uc001jzs.3	P62847	OTTHUMG00000018549	ENST00000440692.1:c.499C>T	10.37:g.79814397C>T	ENSP00000414321:p.Gln167*		E7EPK6|P16632|Q5T0P7|Q5T0P8|Q7Z3D1	Nonsense_Mutation	SNP	ENST00000440692.1	37	CCDS44443.1	.	.	.	.	.	.	.	.	.	.	C	8.875	0.950145	0.18431	.	.	ENSG00000138326	ENST00000440692	.	.	.	2.56	-4.87	0.03123	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0666	0.01612	0.3438:0.2573:0.2656:0.1333	.	.	.	.	X	167	.	.	Q	+	1	0	RPS24	79484403	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.113000	0.10774	-1.194000	0.02684	0.563000	0.77884	CAG		0.547	RPS24-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001026		T	79814397	C	T	79814397	4	4	257	1	0	0	0	0	0	1	0	0	13641	711	25	2	556	2	RPS24	10	79814397	Nonsense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10	66601259	79814397	55720350	30	15398											
TBC1D12	23232	broad.mit.edu	37	10	96290995	96290995	+	Silent	SNP	T	T	C			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr10:96290995T>C	ENST00000225235.4	+	12	2147	c.2037T>C	c.(2035-2037)gaT>gaC	p.D679D	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	679	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.D679D(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TACCACTTGATCTGGCCTGTC	0.373																																																1	Substitution - coding silent(1)	kidney(1)											164	152	156					10																	96290995		1833	4088	5921	SO:0001819	synonymous_variant	23232			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2037T>C	10.37:g.96290995T>C			Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																				0.373	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			C	96290995	T	C	96290995	2	2	257	1	0	0	0	0	0	0	0	1	15606	1432	50	3		3	TBC1D12	10	96290995	Silent	SNP	T	TCGA-B4-5377-01A-01D-1501-10	16476598	96290995	39243752	31	15399											
WDR74	54663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62601147	62601147	+	Splice_Site	SNP	C	C	A	rs189126082		TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr11:62601147C>A	ENST00000525239.1	-	11	1459		c.e11-1		WDR74_ENST00000525752.1_Splice_Site|WDR74_ENST00000529106.1_Splice_Site|WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000377897.4_5'Flank|WDR74_ENST00000278856.4_Splice_Site|WDR74_ENST00000311713.7_Intron|RP11-727F15.9_ENST00000535867.1_RNA|STX5_ENST00000394690.1_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|STX5_ENST00000294179.3_5'Flank|STX5_ENST00000541317.1_5'Flank			Q6RFH5	WDR74_HUMAN	WD repeat domain 74						blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.?(2)		kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TGAGATAAACCTGCAAAAGAT	0.552																																																2	Unknown(2)	kidney(2)											38	38	38					11																	62601147		1961	4139	6100	SO:0001630	splice_region_variant	54663				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.922-1G>T	11.37:g.62601147C>A			A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Splice_Site	SNP	ENST00000525239.1	37	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734400	0.69189	.	.	ENSG00000133316	ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0708	0.80928	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR74	62357723	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.503000	0.66962	2.386000	0.81285	0.563000	0.77884	.		0.552	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093	Intron	A	62601147	C	A	62601147	5	1	257	1	0	0	0	0	0	0	1	0	17329	695	24	4	244	4	WDR74	11	62601147	Splice_Site	SNP	C	TCGA-B4-5377-01A-01D-1501-10		62601147	72405369	32	15400											
CTSW	1521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65648930	65648930	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr11:65648930G>T	ENST00000307886.3	+	3	271	c.225G>T	c.(223-225)agG>agT	p.R75S	CTSW_ENST00000528419.1_Missense_Mutation_p.R75S	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	75					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)	p.R75S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		AGGCTCAGAGGCTGCAGGAGG	0.582																																																1	Substitution - Missense(1)	kidney(1)											281	264	270					11																	65648930		2201	4296	6497	SO:0001583	missense	1521			AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"Cathepsins"	2546	protein-coding gene	gene with protein product		602364	"cathepsin W (lymphopain)"			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.225G>T	11.37:g.65648930G>T	ENSP00000311300:p.Arg75Ser		Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444789	0.25987	.	.	ENSG00000172543	ENST00000307886;ENST00000528419;ENST00000526034	D;D;D	0.85088	-1.94;-1.94;-1.94	5.85	0.769	0.18492	Proteinase inhibitor I29, cathepsin propeptide (2);	1.058160	0.07368	N	0.885189	T	0.76414	0.3984	L	0.28192	0.835	0.21822	N	0.999526	B;B	0.22146	0.03;0.065	B;B	0.29440	0.102;0.089	T	0.63301	-0.6668	10	0.54805	T	0.06	.	4.9414	0.13967	0.3219:0.1438:0.5343:0.0	.	75;75	P56202;E9PI30	CATW_HUMAN;.	S	75;75;74	ENSP00000311300:R75S;ENSP00000436568:R75S;ENSP00000434267:R74S	ENSP00000311300:R75S	R	+	3	2	CTSW	65405506	0.907000	0.30839	0.061000	0.19648	0.402000	0.30811	1.292000	0.33342	-0.092000	0.12417	-0.136000	0.14681	AGG		0.582	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		T	65648930	G	T	65648930	3	4	257	1	0	0	0	0	1	0	0	0	4044	1194	42	4	235	4	CTSW	11	65648930	Missense_Mutation	SNP	G	TCGA-B4-5377-01A-01D-1501-10	3047783	65648930	69357586	33	15401											
KIAA0528	9847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	22676365	22676365	+	Missense_Mutation	SNP	C	C	T	rs547569146	byFrequency	TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr12:22676365C>T	ENST00000333957.4	-	7	1050	c.795G>A	c.(793-795)atG>atA	p.M265I	C2CD5_ENST00000536386.1_Missense_Mutation_p.M265I|C2CD5_ENST00000446597.1_Missense_Mutation_p.M265I|C2CD5_ENST00000542676.1_Missense_Mutation_p.M265I|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000544930.1_Missense_Mutation_p.M67I|C2CD5_ENST00000396028.2_Missense_Mutation_p.M265I|C2CD5_ENST00000545552.1_Missense_Mutation_p.M265I	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	265					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.M265I(1)|p.M67I(1)									CTTACTCCTTCATTTCTTTGG	0.373													C|||	3	0.000599042	0.0	0.0	5008	,	,		14370	0.0		0.0	False		,,,				2504	0.0031															2	Substitution - Missense(2)	kidney(2)											79	73	75					12																	22676365		2203	4300	6503	SO:0001583	missense	0			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.795G>A	12.37:g.22676365C>T	ENSP00000334229:p.Met265Ile		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	9.702	1.154790	0.21371	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930;ENST00000544281	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.24	2.22	0.28083	.	0.267304	0.43919	N	0.000512	T	0.16041	0.0386	N	0.04508	-0.205	0.29125	N	0.88003	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.09377	0.001;0.0;0.004;0.001;0.001;0.0	T	0.19192	-1.0313	10	0.12766	T	0.61	-7.9647	5.8909	0.18913	0.0:0.6365:0.1383:0.2252	.	265;265;67;265;265;265	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	I	265;265;265;265;265;265;67;64	ENSP00000334229:M265I;ENSP00000388756:M265I;ENSP00000439392:M265I;ENSP00000379345:M265I;ENSP00000441951:M265I;ENSP00000443204:M265I;ENSP00000445288:M67I;ENSP00000443479:M64I	ENSP00000334229:M265I	M	-	3	0	KIAA0528	22567632	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.139000	0.31504	0.579000	0.29504	0.591000	0.81541	ATG		0.373	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		T	22676365	C	T	22676365	3	4	257	1	0	0	0	0	1	0	0	0	8184	826	29	2	2283	2	KIAA0528	12	22676365	Missense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10		22676365	111175530	34	15402											
DIP2B	57609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51092926	51092926	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr12:51092926T>G	ENST00000301180.5	+	19	2300	c.2266T>G	c.(2266-2268)Tcc>Gcc	p.S756A		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	756						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S756A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGTGTTAGCTCCAGAACTGG	0.413																																																1	Substitution - Missense(1)	kidney(1)											163	140	148					12																	51092926		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2266T>G	12.37:g.51092926T>G	ENSP00000301180:p.Ser756Ala		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.394195	0.42410	.	.	ENSG00000066084	ENST00000301180	T	0.42513	0.97	4.85	4.85	0.62838	AMP-dependent synthetase/ligase (1);	0.053759	0.85682	D	0.000000	T	0.26774	0.0655	N	0.12182	0.205	0.54753	D	0.999982	B	0.06786	0.001	B	0.15052	0.012	T	0.05566	-1.0877	10	0.27785	T	0.31	-13.2006	14.9182	0.70815	0.0:0.0:0.0:1.0	.	756	Q9P265	DIP2B_HUMAN	A	756	ENSP00000301180:S756A	ENSP00000301180:S756A	S	+	1	0	DIP2B	49379193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.000000	0.63940	2.169000	0.68431	0.533000	0.62120	TCC		0.413	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		G	51092926	T	G	51092926	3	3	257	1	0	0	0	0	1	0	0	0	4530	1551	54	5	2340	5	DIP2B	12	51092926	Missense_Mutation	SNP	T	TCGA-B4-5377-01A-01D-1501-10	28416561	51092926	82758969	35	15403											
MYL2	4633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	111351119	111351119	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr12:111351119G>T	ENST00000228841.8	-	5	331	c.284C>A	c.(283-285)cCt>cAt	p.P95H	MYL2_ENST00000548438.1_Missense_Mutation_p.P81H	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	95	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		P -> A (in CMH10; with mid-left ventricular chamber thickening). {ECO:0000269|PubMed:8673105}.		cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)	p.P95H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GGTTTCCTCAGGGTCCGCTCC	0.577																																					GBM(14;268 426 18829 21617 25540)											1	Substitution - Missense(1)	kidney(1)											113	96	102					12																	111351119		2203	4300	6503	SO:0001583	missense	4633				CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"Myosins / Light chain", "EF-hand domain containing"	7583	protein-coding gene	gene with protein product	"cardiac ventricular myosin light chain 2"	160781	"myosin, light polypeptide 2, regulatory, cardiac, slow"			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.284C>A	12.37:g.111351119G>T	ENSP00000228841:p.Pro95His		Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221139	0.58560	.	.	ENSG00000111245	ENST00000228841;ENST00000548438;ENST00000550439	T;T	0.79141	-1.24;-1.24	5.07	5.07	0.68467	EF-hand-like domain (1);	0.101095	0.64402	D	0.000002	D	0.90147	0.6921	M	0.93375	3.41	0.80722	D	1	D	0.71674	0.998	P	0.61328	0.887	D	0.92913	0.6349	10	0.87932	D	0	.	17.2184	0.86950	0.0:0.0:1.0:0.0	.	95	P10916	MLRV_HUMAN	H	95;81;76	ENSP00000228841:P95H;ENSP00000447154:P81H	ENSP00000228841:P95H	P	-	2	0	MYL2	109835502	1.000000	0.71417	0.494000	0.27515	0.196000	0.23810	9.025000	0.93694	2.356000	0.79943	0.561000	0.74099	CCT		0.577	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		T	111351119	G	T	111351119	3	4	257	1	0	0	0	0	1	0	0	0	10049	1000	35	4	228	4	MYL2	12	111351119	Missense_Mutation	SNP	G	TCGA-B4-5377-01A-01D-1501-10	60258193	111351119	22500776	36	15404											
PARP4	143	broad.mit.edu;ucsc.edu	37	13	25075850	25075850	+	Silent	SNP	T	T	C			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr13:25075850T>C	ENST00000381989.3	-	3	360	c.255A>G	c.(253-255)agA>agG	p.R85R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	85	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R85R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CATCCAAGAGTCTCTTTTCCC	0.408																																																1	Substitution - coding silent(1)	kidney(1)											135	140	138					13																	25075850		2203	4300	6503	SO:0001819	synonymous_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.255A>G	13.37:g.25075850T>C			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	CCDS9307.1																																																																																				0.408	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		C	25075850	T	C	25075850	2	2	257	1	0	0	0	0	0	0	0	1	11465	1664	58	3		3	PARP4	13	25075850	Silent	SNP	T	TCGA-B4-5377-01A-01D-1501-10		25075850	90094028	37	15405											
XYLT1	64131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	17211800	17211800	+	Missense_Mutation	SNP	G	G	A	rs374020411		TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr16:17211800G>A	ENST00000261381.6	-	11	2344	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	754					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.R754C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCAAAGTTGCGGAATAGCCTC	0.572																																																2	Substitution - Missense(2)	kidney(1)|endometrium(1)											84	74	77					16																	17211800		2197	4300	6497	SO:0001583	missense	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2260C>T	16.37:g.17211800G>A	ENSP00000261381:p.Arg754Cys		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918891	0.73098	.	.	ENSG00000103489	ENST00000261381	T	0.61859	0.07	5.08	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79438	-0.1803	10	0.87932	D	0	-38.4378	12.032	0.53403	0.0:0.0:0.6862:0.3138	.	754	Q86Y38	XYLT1_HUMAN	C	754	ENSP00000261381:R754C	ENSP00000261381:R754C	R	-	1	0	XYLT1	17119301	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	2.510000	0.45468	1.212000	0.43366	0.462000	0.41574	CGC		0.572	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		A	17211800	G	A	17211800	3	1	257	1	0	0	0	0	1	0	0	0	17468	1116	39	1	627	1	XYLT1	16	17211800	Missense_Mutation	SNP	G	TCGA-B4-5377-01A-01D-1501-10		17211800	73142953	38	15406											
DNAH3	55567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21098199	21098199	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr16:21098199G>C	ENST00000261383.3	-	19	2847	c.2848C>G	c.(2848-2850)Cca>Gca	p.P950A	DNAH3_ENST00000415178.1_Missense_Mutation_p.P950A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	950	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.P950A(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCATTCCTGGGTTGCAGGAA	0.542																																																2	Substitution - Missense(2)	kidney(2)											222	206	211					16																	21098199		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2848C>G	16.37:g.21098199G>C	ENSP00000261383:p.Pro950Ala		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140083	0.77775	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.62105	0.05;0.05	5.58	4.57	0.56435	Dynein heavy chain, domain-2 (1);	0.851521	0.10248	N	0.697554	D	0.82268	0.5000	M	0.92459	3.31	0.41617	D	0.988945	D	0.58620	0.983	P	0.57679	0.825	D	0.83931	0.0306	10	0.62326	D	0.03	.	16.4153	0.83731	0.0:0.0:0.8418:0.1582	.	950	Q8TD57	DYH3_HUMAN	A	950	ENSP00000261383:P950A;ENSP00000394245:P950A	ENSP00000261383:P950A	P	-	1	0	DNAH3	21005700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.062000	0.71155	2.631000	0.89168	0.655000	0.94253	CCA		0.542	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		C	21098199	G	C	21098199	3	2	257	1	0	0	0	0	1	0	0	0	4605	1232	43	4	9677	4	DNAH3	16	21098199	Missense_Mutation	SNP	G	TCGA-B4-5377-01A-01D-1501-10	3886399	21098199	69256554	39	15407											
BLMH	642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	28598331	28598331	+	Silent	SNP	T	T	C			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr17:28598331T>C	ENST00000261714.6	-	10	1278	c.1104A>G	c.(1102-1104)tcA>tcG	p.S368S	BLMH_ENST00000394819.3_Silent_p.S281S|BLMH_ENST00000582669.1_5'Flank	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	368					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.S368S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GGGTCATAAGTGACTCACCAA	0.448																																					Pancreas(127;628 1772 12912 33293 36203)											1	Substitution - coding silent(1)	kidney(1)											131	117	122					17																	28598331		2203	4300	6503	SO:0001819	synonymous_variant	642			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.1104A>G	17.37:g.28598331T>C			B2R796|Q53F86|Q9UER9	Silent	SNP	ENST00000261714.6	37	CCDS32604.1																																																																																				0.448	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		C	28598331	T	C	28598331	2	2	257	1	0	0	0	0	0	0	0	1	1446	1683	59	3		3	BLMH	17	28598331	Silent	SNP	T	TCGA-B4-5377-01A-01D-1501-10		28598331	52596879	40	15408											
RFFL	117584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33348596	33348596	+	Silent	SNP	G	G	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr17:33348596G>A	ENST00000315249.7	-	3	607	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	RFFL_ENST00000268850.7_Silent_p.L129L|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000413582.2_Silent_p.L129L|RFFL_ENST00000584655.1_Silent_p.L129L|RFFL_ENST00000394597.2_Silent_p.L129L|RFFL_ENST00000378516.2_Silent_p.L129L|RFFL_ENST00000447669.2_Silent_p.L129L|RFFL_ENST00000415395.2_Silent_p.L129L					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase									p.L129L(1)		kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AAGAGCACCAGCTCTTCTTTC	0.552																																																1	Substitution - coding silent(1)	kidney(1)											82	75	78					17																	33348596		2203	4300	6503	SO:0001819	synonymous_variant	117584			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.385C>T	17.37:g.33348596G>A				Silent	SNP	ENST00000315249.7	37	CCDS11286.1																																																																																				0.552	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		A	33348596	G	A	33348596	2	1	257	1	0	0	0	0	0	0	0	1	13256	962	34	2		2	RFFL	17	33348596	Silent	SNP	G	TCGA-B4-5377-01A-01D-1501-10	4750265	33348596	47846614	41	15409											
SMARCA4	6597	hgsc.bcm.edu	37	19	11106894	11106894	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr19:11106894A>C	ENST00000429416.3	+	11	1880	c.1599A>C	c.(1597-1599)gaA>gaC	p.E533D	SMARCA4_ENST00000541122.2_Missense_Mutation_p.E533D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E533D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E533D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E533D|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E533D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E533D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E533D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E533D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	533					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGTAGGCTGAAGATGAGGAGG	0.567			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											163	138	146					19																	11106894		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1599A>C	19.37:g.11106894A>C	ENSP00000395654:p.Glu533Asp		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567732	0.86439	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	4.83	-6.24	0.02046	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	L	0.46614	1.455	0.39854	D	0.973281	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999;1.0;1.0	D;D;D;D;D;D;D	0.77557	0.99;0.976;0.99;0.987;0.954;0.99;0.99	T	0.60520	-0.7247	10	0.87932	D	0	-29.4019	16.7093	0.85381	0.313:0.0:0.687:0.0	.	533;533;533;533;533;533;533	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	D	533;533;597;533;533;533;533;533	ENSP00000395654:E533D;ENSP00000350720:E533D;ENSP00000343896:E533D;ENSP00000445036:E533D;ENSP00000392837:E533D;ENSP00000397783:E533D;ENSP00000414727:E533D	ENSP00000343896:E533D	E	+	3	2	SMARCA4	10967894	0.002000	0.14202	0.067000	0.19924	0.818000	0.46254	-0.896000	0.04114	-1.731000	0.01360	-0.371000	0.07208	GAA		0.567	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		C	11106894	A	C	11106894	3	2	257	1	0	0	0	0	1	0	0	0	14776	69	3	5	1633	5	SMARCA4	19	11106894	Missense_Mutation	SNP	A	TCGA-B4-5377-01A-01D-1501-10		11106894	48022089	42	15410											
COMP	1311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18901411	18901411	+	Silent	SNP	G	G	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr19:18901411G>A	ENST00000222271.2	-	3	221	c.177C>T	c.(175-177)atC>atT	p.I59I	COMP_ENST00000425807.1_Silent_p.I59I|COMP_ENST00000542601.2_Silent_p.I26I	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	59	COMP N-terminal.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.I59I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCAGGAACGTGATCTCCCTGA	0.622																																																1	Substitution - coding silent(1)	kidney(1)											181	189	186					19																	18901411		2203	4300	6503	SO:0001819	synonymous_variant	1311			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.177C>T	19.37:g.18901411G>A			B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	37	CCDS12385.1																																																																																				0.622	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		A	18901411	G	A	18901411	2	1	257	1	0	0	0	0	0	0	0	1	3726	1280	45	2		2	COMP	19	18901411	Silent	SNP	G	TCGA-B4-5377-01A-01D-1501-10	7794517	18901411	40227572	43	15411											
FBXO27	126433	hgsc.bcm.edu;ucsc.edu	37	19	39521925	39521925	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr19:39521925C>T	ENST00000292853.4	-	3	519	c.400G>A	c.(400-402)Gac>Aac	p.D134N	FBXO27_ENST00000509137.2_Missense_Mutation_p.D134N|CTB-189B5.3_ENST00000597303.1_RNA|FBXO27_ENST00000600828.1_Missense_Mutation_p.D133N	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	134	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCCAGCCGTCCCCACCGTGT	0.567																																																0													88	83	85					19																	39521925		2203	4300	6503	SO:0001583	missense	126433			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"F-boxes /  "other""	18753	protein-coding gene	gene with protein product		609099	"F-box only protein 27"			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.400G>A	19.37:g.39521925C>T	ENSP00000292853:p.Asp134Asn		Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174628	0.57692	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.42513	0.97;0.97	3.66	-2.68	0.06041	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	1.007380	0.07998	N	0.988231	T	0.37489	0.1005	N	0.20445	0.575	0.09310	N	1	D	0.59767	0.986	P	0.61328	0.887	T	0.31336	-0.9947	10	0.27785	T	0.31	-5.9169	4.8575	0.13566	0.0:0.468:0.1503:0.3818	.	134	Q8NI29	FBX27_HUMAN	N	134	ENSP00000292853:D134N;ENSP00000437662:D134N	ENSP00000292853:D134N	D	-	1	0	FBXO27	44213765	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-0.279000	0.08479	-0.516000	0.06470	-0.359000	0.07587	GAC		0.567	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			T	39521925	C	T	39521925	3	4	257	1	0	0	0	0	1	0	0	0	5739	855	30	2	467	2	FBXO27	19	39521925	Missense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10	20620514	39521925	19607058	44	15412											
LMTK3	114783	broad.mit.edu	37	19	49001136	49001136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr19:49001136delA	ENST00000600059.1	-	11	3417	c.3190delT	c.(3190-3192)tccfs	p.S1064fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.S1093fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1064	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCGTTCCGGGAGGAGACCACT	0.716																																																0													4	5	5					19																	49001136		1724	3932	5656	SO:0001589	frameshift_variant	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3190delT	19.37:g.49001136delA	ENSP00000472020:p.Ser1064fs		Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37																																																																																					0.716	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		-	49001136	A	-	49001136	7	5	257	1	0	1	0	1	0	0	0	0	8862	304	11	0	1212	0	LMTK3	19	49001136	Frame_Shift_Del	DEL	A	TCGA-B4-5377-01A-01D-1501-10	9479211	49001136	10127847	45	15413											
ZNF175	7728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52090780	52090780	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr19:52090780G>A	ENST00000262259.2	+	5	1554	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	399					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G399D(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TGTGGCAAAGGCTTCTCCCAA	0.413																																																1	Substitution - Missense(1)	kidney(1)											78	80	79					19																	52090780		2203	4300	6503	SO:0001583	missense	7728			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1196G>A	19.37:g.52090780G>A	ENSP00000262259:p.Gly399Asp		A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630920	0.46944	.	.	ENSG00000105497	ENST00000262259	T	0.18016	2.24	2.26	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25121	0.0610	M	0.64997	1.995	0.80722	D	1	D	0.53462	0.96	P	0.51777	0.679	T	0.04294	-1.0962	9	0.66056	D	0.02	.	8.8092	0.34956	0.0:0.2351:0.7648:0.0	.	399	Q9Y473	ZN175_HUMAN	D	399	ENSP00000262259:G399D	ENSP00000262259:G399D	G	+	2	0	ZNF175	56782592	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.159000	0.16442	0.508000	0.28173	0.655000	0.94253	GGC		0.413	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		A	52090780	G	A	52090780	3	1	257	1	0	0	0	0	1	0	0	0	17750	1203	42	2	1210	2	ZNF175	19	52090780	Missense_Mutation	SNP	G	TCGA-B4-5377-01A-01D-1501-10	3089644	52090780	7038203	46	15414											
COL6A2	1292	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47533975	47533975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chr21:47533975C>A	ENST00000300527.4	+	5	893	c.789C>A	c.(787-789)taC>taA	p.Y263*	COL6A2_ENST00000310645.5_Nonsense_Mutation_p.Y263*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.Y263*|COL6A2_ENST00000409416.1_Nonsense_Mutation_p.Y263*|COL6A2_ENST00000357838.4_Nonsense_Mutation_p.Y263*	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	263	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.Y263*(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCAAGGGCTACCGTGGACAGA	0.572																																																3	Substitution - Nonsense(3)	kidney(3)											101	81	88					21																	47533975		2203	4300	6503	SO:0001587	stop_gained	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.789C>A	21.37:g.47533975C>A	ENSP00000300527:p.Tyr263*		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Nonsense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	36	5.906202	0.97087	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	.	.	.	4.52	3.61	0.41365	.	0.208186	0.42682	D	0.000676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8902	6.4509	0.21903	0.1569:0.6918:0.0:0.1512	.	.	.	.	X	263	.	ENSP00000300527:Y263X	Y	+	3	2	COL6A2	46358403	0.995000	0.38212	1.000000	0.80357	0.946000	0.59487	1.898000	0.39809	2.237000	0.73441	0.643000	0.83706	TAC		0.572	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			A	47533975	C	A	47533975	4	1	257	1	0	0	0	0	0	1	0	0	3702	518	18	4	803	4	COL6A2	21	47533975	Nonsense_Mutation	SNP	C	TCGA-B4-5377-01A-01D-1501-10		47533975	595920	47	15415											
PRPS2	5634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	12827407	12827407	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5377-01A-01D-1501-10	TCGA-B4-5377-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a615b02d-fd18-47ef-bd66-6dba56de6981	85d470b3-45ce-4267-ab98-ce6cc5ca43d4	g.chrX:12827407G>A	ENST00000380668.5	+	3	489	c.361G>A	c.(361-363)Gcg>Acg	p.A121T	PRPS2_ENST00000398491.2_Missense_Mutation_p.A124T|PRPS2_ENST00000489404.1_Missense_Mutation_p.A121T	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	121					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.A121T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GGTGGCTGGGGCGGATCACAT	0.408																																																1	Substitution - Missense(1)	kidney(1)											152	132	139					X																	12827407		2203	4300	6503	SO:0001583	missense	5634			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"PRS II", "ribose-phosphate diphosphokinase 2"	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.361G>A	X.37:g.12827407G>A	ENSP00000370043:p.Ala121Thr		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186328	0.94885	.	.	ENSG00000101911	ENST00000380663;ENST00000380668;ENST00000398491;ENST00000489404;ENST00000461630;ENST00000460220	D;D;D;D;T	0.95238	-3.34;-2.86;-2.86;-3.65;-0.78	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.97387	0.9145	M	0.87097	2.86	0.80722	D	1	D;D	0.65815	0.992;0.995	P;D	0.64410	0.843;0.925	D	0.98061	1.0393	10	0.66056	D	0.02	-17.7029	18.0503	0.89345	0.0:0.0:1.0:0.0	.	121;124	P11908;P11908-2	PRPS2_HUMAN;.	T	121;121;124;121;34;11	ENSP00000370038:A121T;ENSP00000370043:A121T;ENSP00000381504:A124T;ENSP00000419380:A121T;ENSP00000418911:A34T	ENSP00000370038:A121T	A	+	1	0	PRPS2	12737328	1.000000	0.71417	0.920000	0.36463	0.958000	0.62258	9.273000	0.95719	2.285000	0.76669	0.544000	0.68410	GCG		0.408	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		A	12827407	G	A	12827407	3	1	257	1	0	0	0	0	1	0	0	0	12585	1203	42	2	380	2	PRPS2	23	12827407	Missense_Mutation	SNP	G	TCGA-B4-5377-01A-01D-1501-10		12827407	142443153	48	15416											
MTOR	2475	broad.mit.edu	37	1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C	rs587777893		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:11188164G>C	ENST00000361445.4	-	43	6006	c.5930C>G	c.(5929-5931)aCa>aGa	p.T1977R	MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1977	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.T1977R(2)|p.T1977K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGAAGCCACTGTCAGTGGGTA	0.478																																																3	Substitution - Missense(3)	kidney(2)|prostate(1)											117	121	120					1																	11188164		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5930C>G	1.37:g.11188164G>C	ENSP00000354558:p.Thr1977Arg		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659586	0.88154	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.81415	-1.49;-1.49	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.92373	0.5907	10	0.87932	D	0	-18.9382	20.063	0.97692	0.0:0.0:1.0:0.0	.	1977	P42345	MTOR_HUMAN	R	1977;182	ENSP00000354558:T1977R;ENSP00000366034:T182R	ENSP00000354558:T1977R	T	-	2	0	MTOR	11110751	1.000000	0.71417	0.968000	0.41197	0.902000	0.53008	9.188000	0.94921	2.735000	0.93741	0.655000	0.94253	ACA		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		C	11188164	G	C	11188164	3	2	258	1	0	0	0	0	1	0	0	0	9956	1377	48	4	1783	4	MTOR	1	11188164	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08		11188164	238062457	1	15417											
C1orf175	374977	broad.mit.edu	37	1	55119457	55119457	+	Silent	SNP	T	T	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:55119457T>A	ENST00000421030.2	+	3	1143	c.858T>A	c.(856-858)tcT>tcA	p.S286S	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000339553.5_Silent_p.S286S|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Silent_p.S286S|MROH7-TTC4_ENST00000414150.2_Silent_p.S286S	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	286	Ser-rich.					extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ACTCCAGATCTGATTTGAGCG	0.502																																																0													75	75	75					1																	55119457		2065	4210	6275	SO:0001819	synonymous_variant	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.858T>A	1.37:g.55119457T>A			A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	CCDS41342.2																																																																																				0.502	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		A	55119457	T	A	55119457	2	1	258	1	0	0	0	0	0	0	0	1	2018	1567	55	5		5	C1orf175	1	55119457	Silent	SNP	T	TCGA-B4-5832-01A-11D-1669-08	43931293	55119457	194131164	2	15418											
HIST2H2AB	317772	broad.mit.edu	37	1	149859298	149859298	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:149859298C>G	ENST00000331128.3	-	1	168	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTCAGGTACTCGAGGACCGCC	0.662																																																0													44	49	47					1																	149859298		2203	4300	6503	SO:0001583	missense	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"Histones / Replication-dependent"	20508	protein-coding gene	gene with protein product		615014	"histone 2, H2ab"			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.169G>C	1.37:g.149859298C>G	ENSP00000332790:p.Glu57Gln			Missense_Mutation	SNP	ENST00000331128.3	37	CCDS938.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190577	0.58017	.	.	ENSG00000184270	ENST00000331128	T	0.61859	0.07	5.27	5.27	0.74061	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.92169	3.28	0.51482	D	0.999923	D	0.89917	1.0	D	0.97110	1.0	T	0.83235	-0.0061	10	0.87932	D	0	.	14.7467	0.69494	0.0:1.0:0.0:0.0	.	57	Q8IUE6	H2A2B_HUMAN	Q	57	ENSP00000332790:E57Q	ENSP00000332790:E57Q	E	-	1	0	HIST2H2AB	148125922	1.000000	0.71417	0.999000	0.59377	0.676000	0.39594	4.977000	0.63792	2.621000	0.88768	0.655000	0.94253	GAG		0.662	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		G	149859298	C	G	149859298	3	3	258	1	0	0	0	0	1	0	0	0	7179	893	31	4	227	4	HIST2H2AB	1	149859298	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	94739841	149859298	99391323	3	15419											
PGLYRP4	57115	broad.mit.edu	37	1	153318667	153318667	+	Splice_Site	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:153318667C>T	ENST00000359650.5	-	3	114	c.50G>A	c.(49-51)gGt>gAt	p.G17D	PGLYRP4_ENST00000368739.3_Splice_Site_p.G17D|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	17					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGGAATCACCTGCAAAGGA	0.488																																																0													207	204	205					1																	153318667		2203	4300	6503	SO:0001630	splice_region_variant	57115			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.50-1G>A	1.37:g.153318667C>T			A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466638	0.26335	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.06528	3.29;3.3	3.25	1.32	0.21799	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B;B	0.18461	0.028;0.016	B;B	0.23018	0.043;0.012	T	0.47873	-0.9083	9	0.51188	T	0.08	.	4.7571	0.13090	0.0:0.6532:0.2213:0.1255	.	17;17	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	D	17	ENSP00000357728:G17D;ENSP00000352672:G17D	ENSP00000352672:G17D	G	-	2	0	PGLYRP4	151585291	0.125000	0.22332	0.044000	0.18714	0.537000	0.34900	0.316000	0.19469	0.364000	0.24374	-0.362000	0.07510	GGT		0.488	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	Missense_Mutation	T	153318667	C	T	153318667	5	4	258	1	0	0	0	0	0	0	1	0	11798	521	18	2	1099	2	PGLYRP4	1	153318667	Splice_Site	SNP	C	TCGA-B4-5832-01A-11D-1669-08	3459369	153318667	95931954	4	15420											
ARHGAP30	257106	broad.mit.edu	37	1	161018367	161018367	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:161018367delC	ENST00000368013.3	-	12	2764	c.2444delG	c.(2443-2445)ggafs	p.G815fs	USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368015.1_Frame_Shift_Del_p.G638fs|ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000368021.3_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	815	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTCACCATCTCCTTGGTCTTT	0.537																																																0													198	184	189					1																	161018367		2203	4300	6503	SO:0001589	frameshift_variant	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2444delG	1.37:g.161018367delC	ENSP00000356992:p.Gly815fs		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Frame_Shift_Del	DEL	ENST00000368013.3	37	CCDS30918.1																																																																																				0.537	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		-	161018367	C	-	161018367	7	5	258	1	0	1	0	1	0	0	0	0	879	855	30	0	865	0	ARHGAP30	1	161018367	Frame_Shift_Del	DEL	C	TCGA-B4-5832-01A-11D-1669-08	7699700	161018367	88232254	5	15421											
SH2D1B	117157	broad.mit.edu	37	1	162381707	162381707	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:162381707C>T	ENST00000367929.2	-	1	209	c.100G>A	c.(100-102)Gag>Aag	p.E34K	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.E34K	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	34	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGTATCGACTCGCTGTCTCTT	0.507																																																0													156	131	140					1																	162381707		2203	4300	6503	SO:0001583	missense	117157			AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"SH2 domain containing"	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.100G>A	1.37:g.162381707C>T	ENSP00000356906:p.Glu34Lys		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071471	0.93950	.	.	ENSG00000198574	ENST00000367929;ENST00000359567	D;D	0.89875	-2.58;-2.58	5.36	5.36	0.76844	SH2 motif (5);	0.066350	0.64402	D	0.000019	D	0.93822	0.8024	M	0.82823	2.61	0.27932	N	0.937843	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.94323	0.7555	9	0.87932	D	0	-31.5474	14.461	0.67450	0.0:1.0:0.0:0.0	.	34;34	O14796-2;O14796	.;SH21B_HUMAN	K	34	ENSP00000356906:E34K;ENSP00000352571:E34K	ENSP00000352571:E34K	E	-	1	0	SH2D1B	160648331	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.398000	0.52579	2.763000	0.94921	0.655000	0.94253	GAG		0.507	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		T	162381707	C	T	162381707	3	4	258	1	0	0	0	0	1	0	0	0	14237	893	31	1	314	1	SH2D1B	1	162381707	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	1363340	162381707	86868914	6	15422											
PRG4	10216	broad.mit.edu	37	1	186276959	186276959	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:186276959A>G	ENST00000445192.2	+	7	2153	c.2108A>G	c.(2107-2109)gAg>gGg	p.E703G	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.E610G|PRG4_ENST00000367486.3_Missense_Mutation_p.E660G|PRG4_ENST00000367483.4_Missense_Mutation_p.E662G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	703	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAGGAGACTGCTCCA	0.592																																																0													129	145	139					1																	186276959		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2108A>G	1.37:g.186276959A>G	ENSP00000399679:p.Glu703Gly		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.907	0.351387	0.11182	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05649	3.42;3.54;3.41;3.54	2.63	-4.85	0.03142	.	0.358279	0.20051	U	0.100294	T	0.04182	0.0116	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.27732	0.187;0.187;0.118;0.187	B;B;B;B	0.22386	0.039;0.039;0.017;0.039	T	0.36432	-0.9748	9	.	.	.	.	5.8386	0.18621	0.3724:0.4907:0.0:0.1368	.	569;610;703;662	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	G	660;569;662;610;703	ENSP00000356456:E660G;ENSP00000356453:E662G;ENSP00000356455:E610G;ENSP00000399679:E703G	.	E	+	2	0	PRG4	184543582	0.039000	0.19947	0.000000	0.03702	0.047000	0.14425	-0.123000	0.10611	-0.335000	0.08451	0.156000	0.16432	GAG		0.592	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		G	186276959	A	G	186276959	3	3	258	1	0	0	0	0	1	0	0	0	12486	304	11	3	2130	3	PRG4	1	186276959	Missense_Mutation	SNP	A	TCGA-B4-5832-01A-11D-1669-08	23895252	186276959	62973662	7	15423											
KCNH1	3756	broad.mit.edu	37	1	211093085	211093085	+	Silent	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:211093085C>T	ENST00000271751.4	-	7	1386	c.1359G>A	c.(1357-1359)tcG>tcA	p.S453S	KCNH1_ENST00000367007.4_Silent_p.S426S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	453					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.S453S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGAAATACAACGAGGAGATGT	0.502																																																1	Substitution - coding silent(1)	lung(1)											170	162	164					1																	211093085		2203	4300	6503	SO:0001819	synonymous_variant	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1359G>A	1.37:g.211093085C>T			B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	CCDS1496.1																																																																																				0.502	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		T	211093085	C	T	211093085	2	4	258	1	0	0	0	0	0	0	0	1	8033	523	19	1		1	KCNH1	1	211093085	Silent	SNP	C	TCGA-B4-5832-01A-11D-1669-08	24816126	211093085	38157536	8	15424											
PTPN14	5784	broad.mit.edu	37	1	214557324	214557324	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:214557324C>A	ENST00000366956.5	-	13	2068	c.1874G>T	c.(1873-1875)aGc>aTc	p.S625I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	625					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GAGGGGCTCGCTCACCTCCTG	0.637																																					Colon(92;557 1424 24372 34121 40073)											0													44	41	42					1																	214557324		2203	4300	6503	SO:0001583	missense	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1874G>T	1.37:g.214557324C>A	ENSP00000355923:p.Ser625Ile		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997500	0.74818	.	.	ENSG00000152104	ENST00000366956	T	0.74106	-0.81	5.66	5.66	0.87406	.	0.040960	0.85682	D	0.000000	D	0.86748	0.6007	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.87474	0.2416	10	0.87932	D	0	.	19.7425	0.96238	0.0:1.0:0.0:0.0	.	625	Q15678	PTN14_HUMAN	I	625	ENSP00000355923:S625I	ENSP00000355923:S625I	S	-	2	0	PTPN14	212623947	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	4.622000	0.61240	2.676000	0.91093	0.557000	0.71058	AGC		0.637	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		A	214557324	C	A	214557324	3	1	258	1	0	0	0	0	1	0	0	0	12789	797	28	4	1717	4	PTPN14	1	214557324	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	3464239	214557324	34693297	9	15425											
USH2A	7399	broad.mit.edu	37	1	215799123	215799123	+	Nonstop_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:215799123T>G	ENST00000307340.3	-	72	15995	c.15609A>C	c.(15607-15609)taA>taC	p.*5203Y	USH2A_ENST00000366943.2_Nonstop_Mutation_p.*5227Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	0					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTCCATCCTTTACAGGTGGG	0.453										HNSCC(13;0.011)																																						0													334	264	288					1																	215799123		2203	4300	6503	SO:0001578	stop_lost	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15609A>C	1.37:g.215799123T>G			Q5VVM9|Q6S362|Q9NS27	Nonstop_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.248809	0.39797	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.71	0.724	0.18236	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7494	0.40466	0.0:0.2557:0.0:0.7443	.	.	.	.	Y	5203;5227	.	.	X	-	3	2	USH2A	213865746	0.021000	0.18746	0.001000	0.08648	0.095000	0.18619	1.538000	0.36094	-0.116000	0.11893	0.482000	0.46254	TAA		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	215799123	T	G	215799123	4	3	258	1	0	0	0	0	0	0	0	0	17041	1848	64	5	3	5	USH2A	1	215799123	Nonstop_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08	1241799	215799123	33451498	10	15426											
NLRP3	114548	broad.mit.edu	37	1	247593009	247593009	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:247593009T>C	ENST00000336119.3	+	4	3025	c.2279T>C	c.(2278-2280)gTg>gCg	p.V760A	NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.V760A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V760A|NLRP3_ENST00000366497.2_Missense_Mutation_p.V760A|NLRP3_ENST00000348069.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	760					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGGATGAGAGTGTTGTGTGAA	0.512																																																0													99	93	95					1																	247593009		2203	4300	6503	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2279T>C	1.37:g.247593009T>C	ENSP00000337383:p.Val760Ala		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	3.248	-0.153912	0.06585	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000366496	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	4.21	3.08	0.35506	.	0.000000	0.39475	N	0.001359	T	0.69646	0.3134	N	0.04132	-0.27	0.09310	N	1	B;B;B	0.17465	0.0;0.022;0.001	B;B;B	0.21917	0.006;0.037;0.012	T	0.58289	-0.7662	10	0.33940	T	0.23	.	6.3261	0.21244	0.0:0.1123:0.0:0.8877	.	760;760;760	B7ZKS9;Q96P20-5;Q96P20	.;.;NALP3_HUMAN	A	760	ENSP00000375704:V760A;ENSP00000355453:V760A;ENSP00000337383:V760A;ENSP00000355452:V760A	ENSP00000337383:V760A	V	+	2	0	NLRP3	245659632	0.003000	0.15002	0.103000	0.21229	0.113000	0.19764	0.736000	0.26130	0.805000	0.34159	0.439000	0.28862	GTG		0.512	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		C	247593009	T	C	247593009	3	2	258	1	0	0	0	0	1	0	0	0	10480	1696	59	3	2293	3	NLRP3	1	247593009	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08	31793886	247593009	1657612	11	15427											
OR2T33	391195	broad.mit.edu	37	1	248436253	248436253	+	Nonsense_Mutation	SNP	G	G	C	rs145618749		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:248436253G>C	ENST00000318021.2	-	1	885	c.864C>G	c.(862-864)taC>taG	p.Y288*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTTCACACTGTAGATGAGGG	0.468													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18541	0.0		0.0	False		,,,				2504	0.0															0													156	159	158					1																	248436253		2203	4300	6503	SO:0001587	stop_gained	391195				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.864C>G	1.37:g.248436253G>C	ENSP00000324687:p.Tyr288*		B2RNN0	Nonsense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	10.05	1.243255	0.22796	.	.	ENSG00000177212	ENST00000318021	.	.	.	1.6	-0.558	0.11796	.	0.000000	0.28989	U	0.013488	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.063	0.25137	0.2622:0.0:0.7378:0.0	.	.	.	.	X	288	.	ENSP00000324687:Y288X	Y	-	3	2	OR2T33	246502876	0.895000	0.30542	0.358000	0.25811	0.109000	0.19521	1.020000	0.30027	-0.150000	0.11195	0.175000	0.17021	TAC		0.468	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		C	248436253	G	C	248436253	4	2	258	1	0	0	0	0	0	1	0	0	11026	1372	48	4	101	4	OR2T33	1	248436253	Nonsense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	843244	248436253	814368	12	15428											
CCDC88A	55704	broad.mit.edu	37	2	55561665	55561665	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:55561665T>G	ENST00000436346.1	-	15	3133	c.2292A>C	c.(2290-2292)gaA>gaC	p.E764D	AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E764D|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E764D|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E764D	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	764					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTCTTTGATTTTCTATATCTA	0.348																																																0													90	91	90					2																	55561665		2201	4298	6499	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2292A>C	2.37:g.55561665T>G	ENSP00000410608:p.Glu764Asp		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	T	15.00	2.701954	0.48307	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.20598	2.06;2.31;2.26;2.07	5.04	1.36	0.22044	.	0.000000	0.49305	U	0.000146	T	0.38558	0.1045	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;0.997;0.998	D;D;D;D;D	0.77557	0.984;0.987;0.99;0.942;0.913	T	0.04203	-1.0969	10	0.39692	T	0.17	-18.2446	8.198	0.31409	0.0:0.2952:0.0:0.7048	.	764;764;764;764;764	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	D	764	ENSP00000338728:E764D;ENSP00000263630:E764D;ENSP00000410608:E764D;ENSP00000404431:E764D	ENSP00000263630:E764D	E	-	3	2	CCDC88A	55415169	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.304000	0.43655	0.064000	0.16427	0.374000	0.22700	GAA		0.348	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		G	55561665	T	G	55561665	3	3	258	1	0	0	0	0	1	0	0	0	2865	1838	64	5	3395	5	CCDC88A	2	55561665	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08		55561665	187637708	13	15429											
REV1	51455	broad.mit.edu	37	2	100019482	100019482	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:100019482C>T	ENST00000258428.3	-	20	3482	c.3254G>A	c.(3253-3255)aGg>aAg	p.R1085K	REV1_ENST00000465835.1_5'Flank|REV1_ENST00000393445.3_Missense_Mutation_p.R1084K|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1085					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTCTGAATCCTTTTTGGTGA	0.403								Direct reversal of damage																																								0													92	87	88					2																	100019482		2203	4300	6503	SO:0001583	missense	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3254G>A	2.37:g.100019482C>T	ENSP00000258428:p.Arg1085Lys		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	2.430	-0.331138	0.05314	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.24151	1.87;1.87	5.95	0.813	0.18749	.	0.325975	0.40469	N	0.001098	T	0.04227	0.0117	N	0.00308	-1.67	0.20307	N	0.999913	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41484	-0.9506	10	0.02654	T	1	.	5.3511	0.16036	0.0:0.2925:0.1396:0.5679	.	1085;1084	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	K	1084;1085	ENSP00000377091:R1084K;ENSP00000258428:R1085K	ENSP00000258428:R1085K	R	-	2	0	REV1	99385914	0.997000	0.39634	0.647000	0.29507	0.528000	0.34623	0.968000	0.29357	0.178000	0.19917	-0.302000	0.09304	AGG		0.403	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		T	100019482	C	T	100019482	3	4	258	1	0	0	0	0	1	0	0	0	13245	681	24	2	517	2	REV1	2	100019482	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	44457817	100019482	143179891	14	15430											
HNMT	3176	broad.mit.edu	37	2	138771555	138771555	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:138771555C>G	ENST00000280097.3	+	6	916	c.734C>G	c.(733-735)aCt>aGt	p.T245S	HNMT_ENST00000410115.1_Missense_Mutation_p.T245S|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	245					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GATTTTTTGACTGAAACCTGC	0.428																																																0													164	167	166					2																	138771555		2203	4300	6503	SO:0001583	missense	3176				CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.734C>G	2.37:g.138771555C>G	ENSP00000280097:p.Thr245Ser		B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	CCDS2181.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509114	0.85282	.	.	ENSG00000150540	ENST00000410115;ENST00000280097	T;T	0.47869	0.83;0.83	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.75777	2.31	0.80722	D	1	D	0.62365	0.991	P	0.52424	0.698	T	0.66814	-0.5828	10	0.66056	D	0.02	-4.6172	20.0155	0.97477	0.0:1.0:0.0:0.0	.	245	P50135	HNMT_HUMAN	S	245	ENSP00000386940:T245S;ENSP00000280097:T245S	ENSP00000280097:T245S	T	+	2	0	HNMT	138488025	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	7.118000	0.77137	2.742000	0.94016	0.591000	0.81541	ACT		0.428	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			G	138771555	C	G	138771555	3	3	258	1	0	0	0	0	1	0	0	0	7257	565	20	4	974	4	HNMT	2	138771555	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	38752073	138771555	104427818	15	15431											
ALS2CR11	151254	broad.mit.edu	37	2	202438995	202438995	+	Silent	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:202438995G>T	ENST00000286195.3	-	7	734	c.690C>A	c.(688-690)gtC>gtA	p.V230V	ALS2CR11_ENST00000439802.1_Silent_p.V230V|ALS2CR11_ENST00000450242.1_Silent_p.V230V|ALS2CR11_ENST00000439140.1_Silent_p.V230V	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	230										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCAGCCTGCAGACAAACTAAA	0.318																																																0													75	75	75					2																	202438995		2203	4300	6503	SO:0001819	synonymous_variant	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.690C>A	2.37:g.202438995G>T			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	ENST00000286195.3	37	CCDS2349.1																																																																																				0.318	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		T	202438995	G	T	202438995	2	4	258	1	0	0	0	0	0	0	0	1	552	929	33	4		4	ALS2CR11	2	202438995	Silent	SNP	G	TCGA-B4-5832-01A-11D-1669-08	63667440	202438995	40760378	16	15432											
PIKFYVE	200576	broad.mit.edu	37	2	209190731	209190731	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:209190731T>G	ENST00000264380.4	+	20	3354	c.3196T>G	c.(3196-3198)Ttt>Gtt	p.F1066V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1066					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCGAGAACCCTTTCTTTTAAC	0.398																																																0													77	82	80					2																	209190731		2203	4300	6503	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3196T>G	2.37:g.209190731T>G	ENSP00000264380:p.Phe1066Val		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283924	0.80803	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.35973	1.28;1.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.78314	0.968;0.991	T	0.63431	-0.6639	10	0.72032	D	0.01	-16.7321	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1066;1010	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	V	1066;642;1010	ENSP00000264380:F1066V;ENSP00000405736:F1010V	ENSP00000264380:F1066V	F	+	1	0	PIKFYVE	208898976	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.950000	0.87804	2.371000	0.80710	0.533000	0.62120	TTT		0.398	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		G	209190731	T	G	209190731	3	3	258	1	0	0	0	0	1	0	0	0	11926	1609	56	5	3281	5	PIKFYVE	2	209190731	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08	6751736	209190731	34008642	17	15433											
ERBB4	2066	broad.mit.edu	37	2	212615417	212615417	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:212615417T>C	ENST00000342788.4	-	5	879	c.569A>G	c.(568-570)cAt>cGt	p.H190R	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.H190R|ERBB4_ENST00000436443.1_Missense_Mutation_p.H190R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	190	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACAGGACTTATGGCAACGTCC	0.463										TSP Lung(8;0.080)																																						0													128	111	117					2																	212615417		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.569A>G	2.37:g.212615417T>C	ENSP00000342235:p.His190Arg		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.41|14.41	2.527899|2.527899	0.44969|0.44969	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	D;D;D|.	0.82803|.	-1.65;-1.65;-1.65|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);|.	0.189822|.	0.56097|.	D|.	0.000029|.	T|T	0.70718|0.70718	0.3256|0.3256	M|M	0.79693|0.79693	2.465|2.465	0.34910|0.34910	D|D	0.747359|0.747359	P;B;B;P;P|.	0.38167|.	0.567;0.427;0.319;0.567;0.621|.	B;B;B;B;B|.	0.37015|.	0.067;0.029;0.239;0.067;0.11|.	T|T	0.80317|0.80317	-0.1433|-0.1433	10|5	0.40728|.	T|.	0.16|.	.|.	11.7493|11.7493	0.51839|0.51839	0.0:0.0:0.1471:0.8529|0.0:0.0:0.1471:0.8529	.|.	190;190;49;190;190|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	R|V	190|190	ENSP00000342235:H190R;ENSP00000403204:H190R;ENSP00000385565:H190R|.	ENSP00000342235:H190R|.	H|I	-|-	2|1	0|0	ERBB4|ERBB4	212323662|212323662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.122000|4.122000	0.57910|0.57910	2.121000|2.121000	0.65114|0.65114	0.529000|0.529000	0.55759|0.55759	CAT|ATA		0.463	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		C	212615417	T	C	212615417	3	2	258	1	0	0	0	0	1	0	0	0	5211	1464	51	3	3453	3	ERBB4	2	212615417	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08	3424686	212615417	30583956	18	15434											
VHL	7428	broad.mit.edu	37	3	10183787	10183787	+	Missense_Mutation	SNP	C	C	A	rs398123481		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:10183787C>A	ENST00000256474.2	+	1	1096	c.256C>A	c.(256-258)Ccc>Acc	p.P86T	VHL_ENST00000345392.2_Missense_Mutation_p.P86T|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	86			P -> A (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|P -> H (in VHLD).|P -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|P -> R (in VHLD; type I). {ECO:0000269|PubMed:9829911}.|P -> S (in VHLD). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P86S(5)|p.P86fs*72(2)|p.S72_V87>L(1)|p.R60fs*35(1)|p.P86A(1)|p.V87fs*72(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.P86T(1)|p.L85fs*46(1)|p.L85fs*44(1)|p.V84fs*72(1)|p.V84_P86del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGTCGTGCTGCCCGTATGGCT	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	18	Deletion - Frameshift(8)|Substitution - Missense(7)|Complex - deletion inframe(2)|Deletion - In frame(1)	kidney(17)|soft_tissue(1)	GRCh37	CM951276|CM952019	VHL	M							13	16	15					3																	10183787		2149	4208	6357	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.256C>A	3.37:g.10183787C>A	ENSP00000256474:p.Pro86Thr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014252	0.93404	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99840	-7.08;-7.08	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	M	0.62723	1.935	0.41266	D	0.986811	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98737	1.0715	10	0.29301	T	0.29	-10.9244	16.8166	0.85735	0.0:1.0:0.0:0.0	.	86;86	P40337-2;P40337	.;VHL_HUMAN	T	86	ENSP00000256474:P86T;ENSP00000344757:P86T	ENSP00000256474:P86T	P	+	1	0	VHL	10158787	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	4.782000	0.62396	2.558000	0.86282	0.550000	0.68814	CCC		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183787	C	A	10183787	3	1	258	1	0	0	0	0	1	0	0	0	17167	739	26	4	258	4	VHL	3	10183787	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08		10183787	187838643	19	15435											
SEC22C	9117	broad.mit.edu	37	3	42602763	42602763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:42602763C>T	ENST00000264454.3	-	4	515	c.372G>A	c.(370-372)tgG>tgA	p.W124*	SEC22C_ENST00000423701.2_Nonsense_Mutation_p.W124*|SEC22C_ENST00000536332.1_Nonsense_Mutation_p.W54*|SEC22C_ENST00000417572.1_Nonsense_Mutation_p.W124*|SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000273156.7_Nonsense_Mutation_p.W124*			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	124					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGTTAAAATGCCACTTCACTT	0.408																																																0													81	80	81					3																	42602763		2203	4300	6503	SO:0001587	stop_gained	9117			AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.372G>A	3.37:g.42602763C>T	ENSP00000264454:p.Trp124*		O95152|Q68CX3|Q6UW18	Nonsense_Mutation	SNP	ENST00000264454.3	37	CCDS2700.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.284457|7.284457	0.98186|0.98186	.|.	.|.	ENSG00000093183|ENSG00000093183	ENST00000451653|ENST00000423701;ENST00000273156;ENST00000417572;ENST00000536332;ENST00000264454;ENST00000456515;ENST00000450981	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.351137	.|0.33127	.|N	.|0.005244	T|.	0.59715|.	0.2214|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.62358|.	-0.6871|.	3|.	.|0.24483	.|T	.|0.36	-6.3107|-6.3107	13.6909|13.6909	0.62544|0.62544	0.0:0.7997:0.2003:0.0|0.0:0.7997:0.2003:0.0	.|.	.|.	.|.	.|.	T|X	46|124;124;124;54;124;124;124	.|.	.|ENSP00000264454:W124X	A|W	-|-	1|3	0|0	SEC22C|SEC22C	42577767|42577767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.017000|1.017000	0.29989|0.29989	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.408	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206		T	42602763	C	T	42602763	4	4	258	1	0	0	0	0	0	1	0	0	13996	740	26	2	601	2	SEC22C	3	42602763	Nonsense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	32418976	42602763	155419667	20	15436											
SETD2	29072	broad.mit.edu	37	3	47143034	47143034	+	Silent	SNP	G	G	A	rs139879059		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:47143034G>A	ENST00000409792.3	-	8	4971	c.4929C>T	c.(4927-4929)aaC>aaT	p.N1643N		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1643	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCAGTTGTCCGTTCACAGTCC	0.403			"N, F, S, Mis"		clear cell renal carcinoma								G|||	1	0.000199681	0.0	0.0	5008	,	,		14162	0.0		0.001	False		,,,				2504	0.0						Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0								G		1,4405	2.1+/-5.4	0,1,2202	126	125	125		4929	0.8	1	3	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	SETD2	NM_014159.6		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1643/2565	47143034	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4929C>T	3.37:g.47143034G>A			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	37	CCDS2749.2																																																																																				0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47143034	G	A	47143034	2	1	258	1	0	0	0	0	0	0	0	1	14137	1136	40	1		1	SETD2	3	47143034	Silent	SNP	G	TCGA-B4-5832-01A-11D-1669-08	4540271	47143034	150879396	21	15437											
BSN	8927	broad.mit.edu	37	3	49699740	49699740	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:49699740A>G	ENST00000296452.4	+	6	10576	c.10462A>G	c.(10462-10464)Atg>Gtg	p.M3488V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3488					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATCCCTAAGTATGGCCCACAG	0.667																																																0													36	40	38					3																	49699740		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10462A>G	3.37:g.49699740A>G	ENSP00000296452:p.Met3488Val		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446164	0.25987	.	.	ENSG00000164061	ENST00000296452	T	0.17370	2.28	5.81	5.81	0.92471	.	0.067697	0.64402	D	0.000016	T	0.17450	0.0419	L	0.47716	1.5	0.40891	D	0.984073	B	0.31485	0.325	B	0.25405	0.06	T	0.02184	-1.1199	10	0.41790	T	0.15	-10.6899	16.1519	0.81629	1.0:0.0:0.0:0.0	.	3488	Q9UPA5	BSN_HUMAN	V	3488	ENSP00000296452:M3488V	ENSP00000296452:M3488V	M	+	1	0	BSN	49674744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.858000	0.75461	2.216000	0.71823	0.533000	0.62120	ATG		0.667	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		G	49699740	A	G	49699740	3	3	258	1	0	0	0	0	1	0	0	0	1532	449	16	3	10484	3	BSN	3	49699740	Missense_Mutation	SNP	A	TCGA-B4-5832-01A-11D-1669-08	2556706	49699740	148322690	22	15438											
PBRM1	55193	broad.mit.edu	37	3	52637711	52637712	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:52637711_52637712insA	ENST00000296302.7	-	17	2605_2606	c.2604_2605insT	c.(2602-2607)cttcagfs	p.Q869fs	PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Q884fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Q884fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Q869fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.Q837fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Q869fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Q869fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Q869fs			Q86U86	PB1_HUMAN	polybromo 1	869					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q869*(2)|p.Q837*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAAAACTGCTGAAGTTCTACTG	0.337			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)																																								SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2605dupT	3.37:g.52637713_52637713dupA	ENSP00000296302:p.Gln869fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																					0.337	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52637712	-	A	52637711	7	5	258	1	0	1	1	0	0	0	0	0	11493	1299	45	0	2351	0	PBRM1	3	52637711	Frame_Shift_Ins	INS	-	TCGA-B4-5832-01A-11D-1669-08	2937971	52637711	145384719	23	15439											
PBRM1	55193	broad.mit.edu	37	3	52713603	52713603	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:52713603G>A	ENST00000296302.7	-	1	126	c.125C>T	c.(124-126)cCa>cTa	p.P42L	PBRM1_ENST00000409114.3_Missense_Mutation_p.P42L|PBRM1_ENST00000409767.1_Missense_Mutation_p.P42L|PBRM1_ENST00000410007.1_Missense_Mutation_p.P42L|PBRM1_ENST00000356770.4_Missense_Mutation_p.P42L|PBRM1_ENST00000337303.4_Missense_Mutation_p.P42L|PBRM1_ENST00000409057.1_Missense_Mutation_p.P42L|PBRM1_ENST00000394830.3_Missense_Mutation_p.P42L			Q86U86	PB1_HUMAN	polybromo 1	42					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATCTACAGTTGGAAGATTGGA	0.478			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													131	115	121					3																	52713603		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.125C>T	3.37:g.52713603G>A	ENSP00000296302:p.Pro42Leu		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	23.1	4.372749	0.82573	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271;ENST00000439181;ENST00000458294	T;T;T;T;T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.64	5.64	0.86602	Bromodomain (2);	0.055164	0.64402	D	0.000001	T	0.30759	0.0775	L	0.48642	1.525	0.80722	D	1	D;P;D;P;D;P;D;P	0.58268	0.977;0.728;0.977;0.944;0.982;0.842;0.977;0.728	P;B;P;P;P;B;P;B	0.53450	0.656;0.272;0.656;0.563;0.726;0.122;0.656;0.272	T	0.00699	-1.1604	10	0.62326	D	0.03	-7.9696	19.7082	0.96082	0.0:0.0:1.0:0.0	.	42;42;42;42;42;42;42;42	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	L	42	ENSP00000349213:P42L;ENSP00000378307:P42L;ENSP00000296302:P42L;ENSP00000338302:P42L;ENSP00000386593:P42L;ENSP00000386529:P42L;ENSP00000386643:P42L;ENSP00000386601:P42L;ENSP00000387775:P42L;ENSP00000409939:P42L;ENSP00000389390:P42L;ENSP00000412401:P42L;ENSP00000416851:P42L	ENSP00000296302:P42L	P	-	2	0	PBRM1	52688643	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.430000	0.97488	2.651000	0.90000	0.585000	0.79938	CCA		0.478	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52713603	G	A	52713603	3	1	258	1	0	0	0	0	1	0	0	0	11493	1348	47	2	4895	2	PBRM1	3	52713603	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	75892	52713603	145308827	24	15440											
IGSF10	285313	broad.mit.edu	37	3	151171562	151171562	+	Splice_Site	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:151171562C>T	ENST00000282466.3	-	3	324	c.325G>A	c.(325-327)Gtc>Atc	p.V109I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	109					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTTTTAAGACCTATGAATTA	0.308																																																0													59	64	62					3																	151171562		2058	4249	6307	SO:0001630	splice_region_variant	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.325-1G>A	3.37:g.151171562C>T			Q86YJ9|Q8N772|Q8NA84	Splice_Site	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076701	0.76415	.	.	ENSG00000152580	ENST00000282466	T	0.57595	0.39	5.53	5.53	0.82687	.	0.000000	0.43260	D	0.000598	T	0.56247	0.1972	L	0.28649	0.875	0.47547	D	0.99945	D	0.61080	0.989	P	0.60345	0.873	T	0.52358	-0.8586	10	0.34782	T	0.22	.	13.7313	0.62789	0.0:0.9267:0.0:0.0733	.	109	Q6WRI0	IGS10_HUMAN	I	109	ENSP00000282466:V109I	ENSP00000282466:V109I	V	-	1	0	IGSF10	152654252	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.670000	0.61583	2.602000	0.87976	0.650000	0.86243	GTC		0.308	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	Missense_Mutation	T	151171562	C	T	151171562	5	4	258	1	0	0	0	0	0	0	1	0	7599	521	18	2	7610	2	IGSF10	3	151171562	Splice_Site	SNP	C	TCGA-B4-5832-01A-11D-1669-08	98457959	151171562	46850868	25	15441											
SST	6750	broad.mit.edu	37	3	187386909	187386909	+	Silent	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:187386909G>T	ENST00000287641.3	-	2	402	c.295C>A	c.(295-297)Cga>Aga	p.R99R		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	99					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)	p.R99R(1)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	TTGCGTTCTCGGGGTGCCATA	0.498																																																1	Substitution - coding silent(1)	lung(1)											193	193	193					3																	187386909		2203	4300	6503	SO:0001819	synonymous_variant	6750				CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"Endogenous ligands"	11329	protein-coding gene	gene with protein product	"somatostatin-14", "somatostatin-28", "prepro-somatostatin"	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.295C>A	3.37:g.187386909G>T			B2R5G3|P01166	Silent	SNP	ENST00000287641.3	37	CCDS3288.1																																																																																				0.498	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		T	187386909	G	T	187386909	2	4	258	1	0	0	0	0	0	0	0	1	15201	1124	39	4		4	SST	3	187386909	Silent	SNP	G	TCGA-B4-5832-01A-11D-1669-08	36215347	187386909	10635521	26	15442											
TACC3	10460	broad.mit.edu	37	4	1729915	1729915	+	Silent	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:1729915A>G	ENST00000313288.4	+	4	892	c.786A>G	c.(784-786)ggA>ggG	p.G262G		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	262					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCTGCGGAGGAGCACCCCTGC	0.682																																					Ovarian(120;482 2294 11894 35824)											0													13	14	13					4																	1729915		2192	4269	6461	SO:0001819	synonymous_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.786A>G	4.37:g.1729915A>G			Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	CCDS3352.1																																																																																				0.682	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			G	1729915	A	G	1729915	2	3	258	1	0	0	0	0	0	0	0	1	15508	291	11	3		3	TACC3	4	1729915	Silent	SNP	A	TCGA-B4-5832-01A-11D-1669-08		1729915	189424361	27	15443											
LIMCH1	22998	broad.mit.edu	37	4	41687773	41687774	+	In_Frame_Ins	INS	-	-	GAT			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:41687773_41687774insGAT	ENST00000313860.7	+	23	2916_2917	c.2862_2863insGAT	c.(2863-2865)gat>GATgat	p.955_955D>DD	LIMCH1_ENST00000511496.1_In_Frame_Ins_p.795_795D>DD|LIMCH1_ENST00000513024.1_In_Frame_Ins_p.808_808D>DD|LIMCH1_ENST00000503057.1_In_Frame_Ins_p.1339_1339D>DD|LIMCH1_ENST00000396595.3_In_Frame_Ins_p.800_800D>DD|LIMCH1_ENST00000512632.1_In_Frame_Ins_p.878_878D>DD|LIMCH1_ENST00000512820.1_In_Frame_Ins_p.967_967D>DD|LIMCH1_ENST00000381753.4_In_Frame_Ins_p.788_788D>DD|LIMCH1_ENST00000509277.1_In_Frame_Ins_p.788_788D>DD|LIMCH1_ENST00000508501.1_In_Frame_Ins_p.954_954D>DD|LIMCH1_ENST00000512946.1_In_Frame_Ins_p.955_955D>DD|LIMCH1_ENST00000514096.1_In_Frame_Ins_p.795_795D>DD	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	955					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACAGTTCAGAAGATGTGAAGCC	0.45																																																0																																										SO:0001652	inframe_insertion	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2863_2865dupGAT	4.37:g.41687774_41687776dupGAT	ENSP00000316891:p.Asp955dup		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	In_Frame_Ins	INS	ENST00000313860.7	37	CCDS33977.1																																																																																				0.45	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		GAT	41687774	-	GAT	41687773	7	5	258	1	0	1	1	0	0	0	0	0	8799	69	3	0	2980	0	LIMCH1	4	41687773	In_Frame_Ins	INS	-	TCGA-B4-5832-01A-11D-1669-08	39957858	41687773	149466503	28	15444											
GABRA2	2555	broad.mit.edu	37	4	46314597	46314597	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:46314597C>A	ENST00000510861.1	-	5	565	c.392G>T	c.(391-393)gGg>gTg	p.G131V	GABRA2_ENST00000515082.1_Missense_Mutation_p.G131V|GABRA2_ENST00000356504.1_Missense_Mutation_p.G131V|GABRA2_ENST00000507069.1_Missense_Mutation_p.G131V|GABRA2_ENST00000514090.1_Missense_Mutation_p.G131V|GABRA2_ENST00000381620.4_Missense_Mutation_p.G131V|GABRA2_ENST00000540012.1_Missense_Mutation_p.G76V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	131					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGATTTTTTCCCATTGTGAAA	0.343																																																0													111	113	112					4																	46314597		2203	4299	6502	SO:0001583	missense	2555				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.392G>T	4.37:g.46314597C>A	ENSP00000421828:p.Gly131Val		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951829	0.92660	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.050554	0.85682	D	0.000000	D	0.88187	0.6369	M	0.73372	2.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88171	0.2864	10	0.72032	D	0.01	.	19.3629	0.94448	0.0:1.0:0.0:0.0	.	76;131;131	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	V	131;131;131;131;76;131;131;131;131	ENSP00000421828:G131V;ENSP00000421300:G131V;ENSP00000371033:G131V;ENSP00000348897:G131V;ENSP00000444409:G76V;ENSP00000427603:G131V;ENSP00000423840:G131V;ENSP00000424362:G131V;ENSP00000424093:G131V	ENSP00000348897:G131V	G	-	2	0	GABRA2	46009354	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	GGG		0.343	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			A	46314597	C	A	46314597	3	1	258	1	0	0	0	0	1	0	0	0	6163	623	22	4	987	4	GABRA2	4	46314597	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	4626824	46314597	144839679	29	15445											
CCDC158	339965	broad.mit.edu	37	4	77274325	77274325	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:77274325T>C	ENST00000388914.3	-	15	2548	c.2396A>G	c.(2395-2397)gAa>gGa	p.E799G		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	799										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CAAACGGCGTTCCTGAGATCG	0.353																																																0													120	113	115					4																	77274325		1842	4084	5926	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2396A>G	4.37:g.77274325T>C	ENSP00000373566:p.Glu799Gly		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149459	0.57151	.	.	ENSG00000163749	ENST00000388914	T	0.35236	1.32	4.95	4.95	0.65309	.	0.000000	0.47455	D	0.000229	T	0.33933	0.0880	N	0.19112	0.55	0.80722	D	1	D	0.60575	0.988	P	0.53861	0.736	T	0.04752	-1.0929	10	0.26408	T	0.33	.	12.2336	0.54503	0.0:0.0:0.0:1.0	.	799	Q5M9N0	CD158_HUMAN	G	799	ENSP00000373566:E799G	ENSP00000373566:E799G	E	-	2	0	CCDC158	77493349	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	4.878000	0.63093	2.082000	0.62665	0.533000	0.62120	GAA		0.353	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		C	77274325	T	C	77274325	3	2	258	1	0	0	0	0	1	0	0	0	2792	1783	62	3	985	3	CCDC158	4	77274325	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08	30959728	77274325	113879951	30	15446											
VEGFC	7424	broad.mit.edu	37	4	177632795	177632795	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:177632795T>G	ENST00000280193.2	-	4	977	c.562A>C	c.(562-564)Att>Ctt	p.I188L	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	188					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGCACTGTAATTTCAAATAAC	0.368																																																0													129	122	124					4																	177632795		1850	4090	5940	SO:0001583	missense	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.562A>C	4.37:g.177632795T>G	ENSP00000280193:p.Ile188Leu		B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753466	0.89753	.	.	ENSG00000150630	ENST00000280193	.	.	.	6.07	6.07	0.98685	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	L	0.57536	1.79	0.80722	D	1	D	0.60575	0.988	D	0.85130	0.997	T	0.77835	-0.2440	9	0.59425	D	0.04	-15.2756	16.635	0.85050	0.0:0.0:0.0:1.0	.	188	P49767	VEGFC_HUMAN	L	188	.	ENSP00000280193:I188L	I	-	1	0	VEGFC	177869789	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.690000	0.84178	2.330000	0.79161	0.477000	0.44152	ATT		0.368	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		G	177632795	T	G	177632795	3	3	258	1	0	0	0	0	1	0	0	0	17157	1493	52	5	716	5	VEGFC	4	177632795	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08	100358470	177632795	13521481	31	15447											
RXFP3	51289	broad.mit.edu	37	5	33937155	33937155	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr5:33937155T>C	ENST00000330120.3	+	1	665	c.310T>C	c.(310-312)Tac>Cac	p.Y104H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	104					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCTGGTTCTCTACCTGATGAA	0.612																																																0													84	83	83					5																	33937155		2203	4300	6503	SO:0001583	missense	51289			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.310T>C	5.37:g.33937155T>C	ENSP00000328708:p.Tyr104His		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375632	0.82682	.	.	ENSG00000182631	ENST00000330120	T	0.19669	2.13	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.059943	0.64402	D	0.000002	T	0.46112	0.1376	M	0.72894	2.215	0.48236	D	0.999612	D	0.71674	0.998	D	0.74674	0.984	T	0.42447	-0.9451	10	0.54805	T	0.06	-20.9382	15.7716	0.78173	0.0:0.0:0.0:1.0	.	104	Q9NSD7	RL3R1_HUMAN	H	104	ENSP00000328708:Y104H	ENSP00000328708:Y104H	Y	+	1	0	RXFP3	33972912	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.185000	0.72013	2.184000	0.69523	0.533000	0.62120	TAC		0.612	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		C	33937155	T	C	33937155	3	2	258	1	0	0	0	0	1	0	0	0	13767	1522	53	3	312	3	RXFP3	5	33937155	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08		33937155	146978105	32	15448											
EMB	133418	broad.mit.edu	37	5	49707089	49707089	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr5:49707089G>T	ENST00000303221.5	-	3	540	c.325C>A	c.(325-327)Caa>Aaa	p.Q109K	EMB_ENST00000514111.1_Missense_Mutation_p.Q59K|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Intron	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	109	Ig-like V-type 1.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTCTCAAGTTGTTCACCATCT	0.373																																																0													107	105	106					5																	49707089		2203	4300	6503	SO:0001583	missense	133418			BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30465	protein-coding gene	gene with protein product		615669	"embigin homolog (mouse)"			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.325C>A	5.37:g.49707089G>T	ENSP00000302289:p.Gln109Lys		B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972521	0.02215	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000514111	T;T	0.11063	2.81;2.81	5.4	-4.28	0.03732	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.963671	0.08583	N	0.924275	T	0.07098	0.0180	L	0.40543	1.245	0.09310	N	1	B	0.12630	0.006	B	0.18263	0.021	T	0.42275	-0.9461	9	.	.	.	2.4633	3.4071	0.07344	0.1394:0.4318:0.2194:0.2093	.	109	Q6PCB8	EMB_HUMAN	K	109;81;59	ENSP00000302289:Q109K;ENSP00000426404:Q59K	.	Q	-	1	0	EMB	49742846	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.027000	0.13621	-0.838000	0.04218	-0.902000	0.02854	CAA		0.373	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		T	49707089	G	T	49707089	3	4	258	1	0	0	0	0	1	0	0	0	5087	1386	48	4	686	4	EMB	5	49707089	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	15769934	49707089	131208171	33	15449											
CDYL	9425	broad.mit.edu	37	6	4935754	4935754	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:4935754T>C	ENST00000328908.5	+	5	990	c.859T>C	c.(859-861)Tct>Cct	p.S287P	CDYL_ENST00000397588.3_Missense_Mutation_p.S233P|CDYL_ENST00000343762.5_Missense_Mutation_p.S101P|CDYL_ENST00000449732.2_Missense_Mutation_p.S101P|CDYL_ENST00000472453.1_3'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	287	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGCAGGTACATCTCCGTTCAT	0.438																																																0													59	55	56					6																	4935754		2203	4300	6503	SO:0001583	missense	9425			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.859T>C	6.37:g.4935754T>C	ENSP00000330512:p.Ser287Pro		A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37		.	.	.	.	.	.	.	.	.	.	T	15.78	2.933118	0.52866	.	.	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.57752	0.76;0.38;0.38;0.38	6.07	6.07	0.98685	.	0.268407	0.36893	N	0.002347	T	0.34716	0.0907	L	0.57536	1.79	0.58432	D	0.999999	B;B	0.14012	0.004;0.009	B;B	0.09377	0.004;0.004	T	0.32295	-0.9912	10	0.48119	T	0.1	.	11.644	0.51250	0.0:0.0704:0.0:0.9296	.	233;287	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	P	287;13;233;101;101	ENSP00000330512:S287P;ENSP00000380718:S233P;ENSP00000394076:S101P;ENSP00000340908:S101P	ENSP00000330512:S287P	S	+	1	0	CDYL	4880753	1.000000	0.71417	0.877000	0.34402	0.964000	0.63967	3.324000	0.52022	2.326000	0.78906	0.533000	0.62120	TCT		0.438	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		C	4935754	T	C	4935754	3	2	258	1	0	0	0	0	1	0	0	0	3187	1435	50	3	707	3	CDYL	6	4935754	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08		4935754	166179313	34	15450											
SRPK1	6732	broad.mit.edu	37	6	35856615	35856615	+	Silent	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:35856615T>C	ENST00000373825.2	-	4	564	c.279A>G	c.(277-279)acA>acG	p.T93T	SRPK1_ENST00000423325.2_Silent_p.T77T|SRPK1_ENST00000373822.1_5'UTR|SRPK1_ENST00000373821.2_5'UTR					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ATAACCATACTGTTGAAAAGT	0.388																																					NSCLC(31;67 978 16289 24856 26454)											0													148	139	142					6																	35856615		1875	4104	5979	SO:0001819	synonymous_variant	6732			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.279A>G	6.37:g.35856615T>C				Silent	SNP	ENST00000373825.2	37	CCDS47415.1																																																																																				0.388	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		C	35856615	T	C	35856615	2	2	258	1	0	0	0	0	0	0	0	1	15164	1567	55	3		3	SRPK1	6	35856615	Silent	SNP	T	TCGA-B4-5832-01A-11D-1669-08	30920861	35856615	135258452	35	15451											
GPR116	221395	broad.mit.edu	37	6	46826442	46826442	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:46826442G>A	ENST00000283296.7	-	17	3486	c.3198C>T	c.(3196-3198)acC>acT	p.T1066T	GPR116_ENST00000545669.1_Silent_p.T495T|GPR116_ENST00000456426.2_Silent_p.T924T|GPR116_ENST00000362015.4_Silent_p.T1066T|GPR116_ENST00000265417.7_Silent_p.T1066T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1066					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAATGAACCAGGTGTTGGCGA	0.532																																					NSCLC(59;410 1274 8751 36715 50546)											0													71	67	69					6																	46826442		2203	4300	6503	SO:0001819	synonymous_variant	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3198C>T	6.37:g.46826442G>A			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	CCDS4919.1																																																																																				0.532	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		A	46826442	G	A	46826442	2	1	258	1	0	0	0	0	0	0	0	1	6635	987	35	2		2	GPR116	6	46826442	Silent	SNP	G	TCGA-B4-5832-01A-11D-1669-08	10969827	46826442	124288625	36	15452											
RHAG	6005	broad.mit.edu	37	6	49604371	49604371	+	Missense_Mutation	SNP	G	G	C	rs387906519		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:49604371G>C	ENST00000371175.4	-	1	181	c.155C>G	c.(154-156)cCt>cGt	p.P52R	RHAG_ENST00000229810.7_Missense_Mutation_p.P52R	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	52					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTACTCACGAGGATATAACTC	0.373																																					Ovarian(176;476 2003 7720 43408 44749)											0													185	178	180					6																	49604371		2203	4300	6503	SO:0001583	missense	6005				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.155C>G	6.37:g.49604371G>C	ENSP00000360217:p.Pro52Arg		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388342	0.82902	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.23147	1.92;1.92	5.6	5.6	0.85130	Ammonium transporter AmtB-like (3);	0.156891	0.64402	D	0.000016	T	0.47857	0.1468	M	0.86268	2.805	0.80722	D	1	D;P;P	0.58268	0.982;0.941;0.95	D;P;P	0.64321	0.924;0.684;0.684	T	0.54111	-0.8342	10	0.87932	D	0	-0.3925	17.1276	0.86718	0.0:0.0:1.0:0.0	.	52;52;52	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	R	52	ENSP00000360217:P52R;ENSP00000229810:P52R	ENSP00000229810:P52R	P	-	2	0	RHAG	49712330	1.000000	0.71417	0.982000	0.44146	0.946000	0.59487	3.604000	0.54081	2.636000	0.89361	0.591000	0.81541	CCT		0.373	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			C	49604371	G	C	49604371	3	2	258	1	0	0	0	0	1	0	0	0	13321	1000	35	4	1114	4	RHAG	6	49604371	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	2777929	49604371	121510696	37	15453											
HMGCLL1	54511	broad.mit.edu	37	6	55381307	55381307	+	Splice_Site	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:55381307G>T	ENST00000398661.2	-	5	613	c.482C>A	c.(481-483)gCt>gAt	p.A161D	HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000274901.4_Splice_Site_p.A131D|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	161					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACACTTACAGCATGGTGAAA	0.343																																					Ovarian(35;840 893 7837 15538 42887)											0													134	128	130					6																	55381307		1850	4095	5945	SO:0001630	splice_region_variant	54511			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.483+1C>A	6.37:g.55381307G>T			B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Splice_Site	SNP	ENST00000398661.2	37	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023653	0.75390	.	.	ENSG00000146151	ENST00000274901;ENST00000398661	D;D	0.99014	-5.33;-5.33	5.21	5.21	0.72293	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.114751	0.64402	D	0.000013	D	0.99677	0.9879	H	0.98769	4.325	0.80722	D	1	D;D	0.69078	0.992;0.997	D;D	0.75020	0.945;0.985	D	0.97309	0.9936	10	0.87932	D	0	-31.0236	18.7395	0.91768	0.0:0.0:1.0:0.0	.	131;161	Q8TB92-2;Q8TB92	.;HMGC2_HUMAN	D	131;161	ENSP00000274901:A131D;ENSP00000381654:A161D	ENSP00000274901:A131D	A	-	2	0	HMGCLL1	55489266	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	7.876000	0.87215	2.437000	0.82529	0.313000	0.20887	GCT		0.343	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383	Missense_Mutation	T	55381307	G	T	55381307	5	4	258	1	0	0	0	0	0	0	1	0	7232	985	34	4	654	4	HMGCLL1	6	55381307	Splice_Site	SNP	G	TCGA-B4-5832-01A-11D-1669-08	5776936	55381307	115733760	38	15454											
ZNF451	26036	broad.mit.edu	37	6	57013119	57013119	+	Silent	SNP	C	C	T	rs200039225		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:57013119C>T	ENST00000370706.4	+	10	2480	c.2236C>T	c.(2236-2238)Ctg>Ttg	p.L746L	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Silent_p.L746L|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Silent_p.L746L|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	746					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CCAAATCATGCTGGATAAAGG	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		21263	0.001		0.0	False		,,,				2504	0.0															0													57	54	55					6																	57013119		2203	4300	6503	SO:0001819	synonymous_variant	26036			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2236C>T	6.37:g.57013119C>T			Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	ENST00000370706.4	37	CCDS43477.1																																																																																				0.393	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		T	57013119	C	T	57013119	2	4	258	1	0	0	0	0	0	0	0	1	17927	796	28	2		2	ZNF451	6	57013119	Silent	SNP	C	TCGA-B4-5832-01A-11D-1669-08	1631812	57013119	114101948	39	15455											
ENPP3	5169	broad.mit.edu	37	6	131958572	131958572	+	Silent	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:131958572C>T	ENST00000414305.1	+	2	376	c.48C>T	c.(46-48)aaC>aaT	p.N16N	ENPP3_ENST00000358229.5_Silent_p.N16N|ENPP3_ENST00000543135.1_5'UTR|ENPP3_ENST00000427148.2_5'UTR|ENPP3_ENST00000357639.3_Silent_p.N16N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	16					immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTAAGAAGAACACTCTTAAGA	0.318																																																0													90	90	90					6																	131958572		2203	4300	6503	SO:0001819	synonymous_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.48C>T	6.37:g.131958572C>T			Q5JTL3	Silent	SNP	ENST00000414305.1	37	CCDS5148.1																																																																																				0.318	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			T	131958572	C	T	131958572	2	4	258	1	0	0	0	0	0	0	0	1	5133	477	17	2		2	ENPP3	6	131958572	Silent	SNP	C	TCGA-B4-5832-01A-11D-1669-08	74945453	131958572	39156495	40	15456											
NXPH1	30010	broad.mit.edu	37	7	8790743	8790743	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:8790743T>C	ENST00000405863.1	+	3	1071	c.160T>C	c.(160-162)Tct>Cct	p.S54P	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	54	II.					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CAAAGACTTGTCTATCAGCCG	0.438																																																0													74	73	73					7																	8790743		1975	4173	6148	SO:0001583	missense	30010			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.160T>C	7.37:g.8790743T>C	ENSP00000384551:p.Ser54Pro		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744211	0.49151	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.61618	-0.7026	9	0.27082	T	0.32	-14.3302	16.6407	0.85098	0.0:0.0:0.0:1.0	.	54	P58417	NXPH1_HUMAN	P	54	.	ENSP00000384551:S54P	S	+	1	0	NXPH1	8757268	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	7.671000	0.83941	2.326000	0.78906	0.533000	0.62120	TCT		0.438	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		C	8790743	T	C	8790743	3	2	258	1	0	0	0	0	1	0	0	0	10792	1667	58	3	166	3	NXPH1	7	8790743	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08		8790743	150347920	41	15457											
CREB5	9586	broad.mit.edu	37	7	28848987	28848987	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:28848987G>C	ENST00000357727.2	+	9	1600	c.1210G>C	c.(1210-1212)Gaa>Caa	p.E404Q	CREB5_ENST00000396300.2_Missense_Mutation_p.E397Q|CREB5_ENST00000409603.1_Missense_Mutation_p.E371Q|CREB5_ENST00000396299.2_Missense_Mutation_p.E371Q|CREB5_ENST00000396298.2_Missense_Mutation_p.E265Q	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	404	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GATGTCATTGGAAAAGAAAGC	0.577																																																0													44	49	48					7																	28848987		2203	4300	6503	SO:0001583	missense	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1210G>C	7.37:g.28848987G>C	ENSP00000350359:p.Glu404Gln		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400163	0.96030	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.99	5.99	0.97316	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	L	0.51422	1.61	0.80722	D	1	D;D	0.60160	0.961;0.987	D;D	0.72338	0.966;0.977	T	0.71073	-0.4698	10	0.52906	T	0.07	-11.9288	20.4777	0.99188	0.0:0.0:1.0:0.0	.	265;404	B4DU13;Q02930	.;CREB5_HUMAN	Q	371;404;397;371;265	ENSP00000379593:E371Q;ENSP00000350359:E404Q;ENSP00000379594:E397Q;ENSP00000387197:E371Q;ENSP00000379592:E265Q	ENSP00000350359:E404Q	E	+	1	0	CREB5	28815512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	GAA		0.577	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		C	28848987	G	C	28848987	3	2	258	1	0	0	0	0	1	0	0	0	3862	1175	41	4	1295	4	CREB5	7	28848987	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	20058244	28848987	130289676	42	15458											
LIMK1	3984	broad.mit.edu	37	7	73526304	73526310	+	Frame_Shift_Del	DEL	CTCCCAC	CTCCCAC	-	rs150858705|rs377306326		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:73526304_73526310delCTCCCAC	ENST00000336180.2	+	12	1437_1443	c.1386_1392delCTCCCAC	c.(1384-1392)aactcccacfs	p.NSH462fs	LIMK1_ENST00000538333.3_Frame_Shift_Del_p.NSH428fs|LIMK1_ENST00000418310.1_Frame_Shift_Del_p.NSH492fs	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GAGACCTCAACTCCCACAACTGCCTGG	0.647																																																0																																										SO:0001589	frameshift_variant	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1386_1392delCTCCCAC	7.37:g.73526304_73526310delCTCCCAC	ENSP00000336740:p.Asn462fs		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Frame_Shift_Del	DEL	ENST00000336180.2	37	CCDS5563.1																																																																																				0.647	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		-	73526310	CTCCCAC	-	73526304	7	5	258	1	0	1	0	1	0	0	0	0	8803	564	20	0	1432	0	LIMK1	7	73526304	Frame_Shift_Del	DEL	CTCCCAC	TCGA-B4-5832-01A-11D-1669-08	44677317	73526304	85612359	43	15459											
GNAT3	346562	broad.mit.edu	37	7	80091851	80091851	+	Silent	SNP	G	G	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:80091851G>C	ENST00000398291.3	-	6	780	c.687C>G	c.(685-687)gcC>gcG	p.A229A	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	229					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCATGTCATAGGCACTAAGTG	0.403																																																0													144	136	138					7																	80091851		1989	4206	6195	SO:0001819	synonymous_variant	346562				CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.687C>G	7.37:g.80091851G>C			A4D1B2|A4D1B3|B9EJG5	Silent	SNP	ENST00000398291.3	37	CCDS47625.1																																																																																				0.403	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		C	80091851	G	C	80091851	2	2	258	1	0	0	0	0	0	0	0	1	6515	987	35	4		4	GNAT3	7	80091851	Silent	SNP	G	TCGA-B4-5832-01A-11D-1669-08	6565547	80091851	79046812	44	15460											
COL1A2	1278	broad.mit.edu	37	7	94051239	94051239	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:94051239G>A	ENST00000297268.6	+	39	2849	c.2378G>A	c.(2377-2379)gGa>gAa	p.G793E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	793			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGCTGCTGGACGGACTGGT	0.458										HNSCC(75;0.22)																																						0													134	114	121					7																	94051239		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2378G>A	7.37:g.94051239G>A	ENSP00000297268:p.Gly793Glu		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116052	0.94339	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96992	-4.2	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.98991	0.9656	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99201	1.0873	10	0.87932	D	0	.	19.2941	0.94115	0.0:0.0:1.0:0.0	.	793	P08123	CO1A2_HUMAN	E	793;794	ENSP00000297268:G793E	ENSP00000297268:G793E	G	+	2	0	COL1A2	93889175	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.808000	0.99193	2.746000	0.94184	0.655000	0.94253	GGA		0.458	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94051239	G	A	94051239	3	1	258	1	0	0	0	0	1	0	0	0	3680	1174	41	2	2532	2	COL1A2	7	94051239	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	13959388	94051239	65087424	45	15461											
CLDN15	24146	broad.mit.edu	37	7	100875889	100875889	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:100875889C>T	ENST00000401528.1	-	5	1702	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	CLDN15_ENST00000433422.1_5'Flank|CLDN15_ENST00000308344.5_Missense_Mutation_p.A193T	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	193					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					GCTCACCTGGCGGCTGGGTCC	0.751																																																0													7	9	8					7																	100875889		2124	4119	6243	SO:0001583	missense	24146			AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"Claudins"	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.577G>A	7.37:g.100875889C>T	ENSP00000385300:p.Ala193Thr		B3KPB5	Missense_Mutation	SNP	ENST00000401528.1	37	CCDS5717.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585598	0.66105	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000414035;ENST00000412417	D;D;T;T	0.85013	-1.93;-1.93;0.55;0.23	3.9	-7.81	0.01210	.	3.657200	0.00993	N	0.003553	T	0.65512	0.2698	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62397	-0.6863	10	0.10377	T	0.69	.	7.4727	0.27357	0.0:0.1466:0.2125:0.6409	.	193	P56746	CLD15_HUMAN	T	193;193;138;170	ENSP00000308870:A193T;ENSP00000385300:A193T;ENSP00000398418:A138T;ENSP00000390230:A170T	ENSP00000308870:A193T	A	-	1	0	CLDN15	100662609	0.000000	0.05858	0.001000	0.08648	0.231000	0.25187	-1.992000	0.01476	-2.280000	0.00675	0.511000	0.50034	GCC		0.751	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		T	100875889	C	T	100875889	3	4	258	1	0	0	0	0	1	0	0	0	3478	768	27	1	117	1	CLDN15	7	100875889	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	6824650	100875889	58262774	46	15462											
PSMC2	5701	broad.mit.edu	37	7	103002469	103002469	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:103002469C>T	ENST00000435765.1	+	6	767	c.356C>T	c.(355-357)gCc>gTc	p.A119V	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.A119V|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_5'UTR|SLC26A5_ENST00000393735.2_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	119					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)|ATP catabolic process (GO:0006200)|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)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AAGCAGTTTGCCAAGTTTGTG	0.378																																																0													160	145	150					7																	103002469		2203	4300	6503	SO:0001583	missense	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.356C>T	7.37:g.103002469C>T	ENSP00000391211:p.Ala119Val		A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664940	0.96745	.	.	ENSG00000161057	ENST00000457587;ENST00000425206;ENST00000435765;ENST00000292644	D;D	0.95205	-3.64;-3.64	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	M	0.85041	2.73	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.98160	1.0446	10	0.87932	D	0	-12.6107	18.9171	0.92510	0.0:1.0:0.0:0.0	.	119	P35998	PRS7_HUMAN	V	119	ENSP00000391211:A119V;ENSP00000292644:A119V	ENSP00000292644:A119V	A	+	2	0	PSMC2	102789705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.674000	0.83992	2.548000	0.85928	0.555000	0.69702	GCC		0.378	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		T	103002469	C	T	103002469	3	4	258	1	0	0	0	0	1	0	0	0	12691	739	26	2	374	2	PSMC2	7	103002469	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	2126580	103002469	56136194	47	15463											
CFTR	1080	broad.mit.edu	37	7	117254766	117254766	+	Splice_Site	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:117254766T>G	ENST00000003084.6	+	21	3599	c.3467T>G	c.(3466-3468)tTg>tGg	p.L1156W	CFTR_ENST00000454343.1_Splice_Site_p.L1095W|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1156					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GTGGATAGCTTGGTAAGTCTT	0.358									Cystic Fibrosis																																							0													143	130	134					7																	117254766		2203	4300	6503	SO:0001630	splice_region_variant	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3468+1T>G	7.37:g.117254766T>G			Q20BG8|Q20BH2|Q2I0A1|Q2I102	Splice_Site	SNP	ENST00000003084.6	37	CCDS5773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.8|26.8	4.768001|4.768001	0.90020|0.90020	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809|ENST00000468795	D;D;D|.	0.94723|.	-3.5;-3.5;-3.5|.	5.9|5.9	5.9|5.9	0.94986|0.94986	ABC transporter, transmembrane domain, type 1 (1);|.	0.064020|.	0.64402|.	D|.	0.000004|.	T|.	0.73513|.	0.3596|.	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.70935|.	0.971|.	T|.	0.72747|.	-0.4200|.	10|.	0.66056|.	D|.	0.02|.	-15.58|-15.58	16.3232|16.3232	0.82961|0.82961	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1156|.	P13569|.	CFTR_HUMAN|.	W|G	1156;1095;1126|98	ENSP00000003084:L1156W;ENSP00000403677:L1095W;ENSP00000389119:L1126W|.	ENSP00000003084:L1156W|.	L|X	+|+	2|1	0|0	CFTR|CFTR	117042002|117042002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.860000|7.860000	0.86993|0.86993	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	TTG|TGA		0.358	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	Missense_Mutation	G	117254766	T	G	117254766	5	3	258	1	0	0	0	0	0	0	1	0	3296	1826	63	5	3549	5	CFTR	7	117254766	Splice_Site	SNP	T	TCGA-B4-5832-01A-11D-1669-08	14252297	117254766	41883897	48	15464											
UBN2	254048	broad.mit.edu	37	7	138967976	138967976	+	Silent	SNP	G	G	A	rs528507397		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:138967976G>A	ENST00000473989.3	+	15	2325	c.2325G>A	c.(2323-2325)gcG>gcA	p.A775A	UBN2_ENST00000288561.8_Silent_p.A692A	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	775						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGCTTTAGCGGTTATCAACA	0.478																																																0													131	129	130					7																	138967976		1936	4137	6073	SO:0001819	synonymous_variant	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2325G>A	7.37:g.138967976G>A			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	CCDS43655.2																																																																																				0.478	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		A	138967976	G	A	138967976	2	1	258	1	0	0	0	0	0	0	0	1	16898	1103	39	1		1	UBN2	7	138967976	Silent	SNP	G	TCGA-B4-5832-01A-11D-1669-08	21713210	138967976	20170687	49	15465											
PRSS37	136242	broad.mit.edu	37	7	141536260	141536260	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:141536260C>T	ENST00000350549.3	-	5	1014	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	PRSS37_ENST00000438520.1_Missense_Mutation_p.V215I	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	215	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TAGATGCCGACGTCCCCTCCC	0.517																																																0													201	167	178					7																	141536260		2203	4300	6503	SO:0001583	missense	136242				CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"Serine peptidases / Serine peptidases"	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.643G>A	7.37:g.141536260C>T	ENSP00000297767:p.Val215Ile		B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.297018	0.23650	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	D;D	0.87729	-2.29;-2.29	5.28	4.33	0.51752	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.124579	0.36665	N	0.002474	T	0.76083	0.3938	N	0.25426	0.745	0.09310	N	0.999999	B;B	0.33807	0.426;0.426	B;B	0.31442	0.09;0.13	T	0.69308	-0.5179	10	0.87932	D	0	.	5.9741	0.19369	0.0:0.7009:0.1956:0.1034	.	214;215	B7ZMK3;A4D1T9	.;PRS37_HUMAN	I	215	ENSP00000297767:V215I;ENSP00000414461:V215I	ENSP00000297767:V215I	V	-	1	0	PRSS37	141182729	0.999000	0.42202	0.563000	0.28383	0.266000	0.26442	3.755000	0.55197	2.761000	0.94854	0.585000	0.79938	GTC		0.517	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270		T	141536260	C	T	141536260	3	4	258	1	0	0	0	0	1	0	0	0	12631	536	19	1	68	1	PRSS37	7	141536260	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	2568284	141536260	17602403	50	15466											
SSPO	23145	broad.mit.edu	37	7	149497464	149497464	+	RNA	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:149497464C>T	ENST00000378016.2	+	0	7222							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAACAGGCGCAGGTGTGTGA	0.692																																																0													24	32	30					7																	149497464		2173	4258	6431			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149497464C>T			Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																					0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149497464	C	T	149497464	1	4	258	0	1	0	0	0	0	0	0	0	15194	711	25	2		2	SSPO	7	149497464	RNA	SNP	C	TCGA-B4-5832-01A-11D-1669-08	7961204	149497464	9641199	51	15467											
CSMD1	64478	broad.mit.edu	37	8	3216673	3216673	+	Splice_Site	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr8:3216673C>A	ENST00000520002.1	-	22	3863		c.e22+1		CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACCACCTACCCACACACCT	0.582																																																0													65	67	67					8																	3216673		2203	4300	6503	SO:0001630	splice_region_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3307+1G>T	8.37:g.3216673C>A			Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	c	27.4	4.825441	0.90955	.	.	ENSG00000183117	ENST00000335551;ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9218	0.92528	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	3204080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.612000	0.82975	2.454000	0.82982	0.550000	0.68814	.		0.582	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	A	3216673	C	A	3216673	5	1	258	1	0	0	0	0	0	0	1	0	3946	521	18	4	7589	4	CSMD1	8	3216673	Splice_Site	SNP	C	TCGA-B4-5832-01A-11D-1669-08		3216673	143147349	52	15468											
CSMD3	114788	broad.mit.edu	37	8	113697846	113697846	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr8:113697846G>T	ENST00000297405.5	-	15	2515	c.2271C>A	c.(2269-2271)agC>agA	p.S757R	CSMD3_ENST00000343508.3_Missense_Mutation_p.S717R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S757R|CSMD3_ENST00000455883.2_Missense_Mutation_p.S653R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	757	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGTATCCGGCTCCCTGGAT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													98	106	104					8																	113697846		2203	4299	6502	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2271C>A	8.37:g.113697846G>T	ENSP00000297405:p.Ser757Arg		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949752	0.53186	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.96	1.28	0.21552	CUB (5);	0.152775	0.46442	D	0.000281	T	0.65801	0.2726	L	0.53617	1.68	0.27280	N	0.958117	P;D;D	0.76494	0.946;0.981;0.999	P;D;D	0.91635	0.71;0.924;0.999	T	0.59059	-0.7525	10	0.23302	T	0.38	.	10.5713	0.45202	0.4388:0.0:0.5612:0.0	.	653;757;717	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	717;757;97;653;757	ENSP00000345799:S717R;ENSP00000297405:S757R;ENSP00000341558:S97R;ENSP00000412263:S653R;ENSP00000343124:S757R	ENSP00000297405:S757R	S	-	3	2	CSMD3	113767022	1.000000	0.71417	0.987000	0.45799	0.970000	0.65996	1.327000	0.33746	-0.060000	0.13132	0.655000	0.94253	AGC		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113697846	G	T	113697846	3	4	258	1	0	0	0	0	1	0	0	0	3948	1194	42	4	9080	4	CSMD3	8	113697846	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	110481173	113697846	32666176	53	15469											
CYP11B1	1584	broad.mit.edu	37	8	143960507	143960507	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr8:143960507G>A	ENST00000292427.4	-	2	368	c.336C>T	c.(334-336)agC>agT	p.S112S	CYP11B1_ENST00000517471.1_Silent_p.S112S|CYP11B1_ENST00000377675.3_Silent_p.S157S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	112					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AGGGCTCCAGGCTCATCCTGT	0.612									Familial Hyperaldosteronism type I																																							0													198	144	162					8																	143960507		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.336C>T	8.37:g.143960507G>A			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.612	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			A	143960507	G	A	143960507	2	1	258	1	0	0	0	0	0	0	0	1	4147	1194	42	2		2	CYP11B1	8	143960507	Silent	SNP	G	TCGA-B4-5832-01A-11D-1669-08	30262661	143960507	2403515	54	15470											
OR1J1	347168	broad.mit.edu	37	9	125239867	125239875	+	In_Frame_Del	DEL	GAAACTGTC	GAAACTGTC	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr9:125239867_125239875delGAAACTGTC	ENST00000259357.2	-	1	360_368	c.331_339delGACAGTTTC	c.(331-339)gacagtttcdel	p.DSF111del	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGTGATAAGGAAACTGTCTAAGTCAGCA	0.435																																																0																																										SO:0001651	inframe_deletion	347168			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"GPCR / Class A : Olfactory receptors"	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.331_339delGACAGTTTC	9.37:g.125239867_125239875delGAAACTGTC	ENSP00000259357:p.Asp111_Phe113del		A3KFL8|Q6IF10|Q96R88	In_Frame_Del	DEL	ENST00000259357.2	37	CCDS35120.1																																																																																				0.435	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			-	125239875	GAAACTGTC	-	125239867	7	5	258	1	0	1	0	1	0	0	0	0	10961	1165	41	0	632	0	OR1J1	9	125239867	In_Frame_Del	DEL	GAAACTGTC	TCGA-B4-5832-01A-11D-1669-08		125239867	15973564	55	15471											
OR1N1	138883	broad.mit.edu	37	9	125289274	125289274	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr9:125289274T>C	ENST00000304880.2	-	1	298	c.299A>G	c.(298-300)tAt>tGt	p.Y100C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CAGAAAGAAATACATTTGCGT	0.498																																																0													94	91	92					9																	125289274		2203	4300	6503	SO:0001583	missense	138883			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.299A>G	9.37:g.125289274T>C	ENSP00000306974:p.Tyr100Cys		A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109629	0.77096	.	.	ENSG00000171505	ENST00000304880	T	0.00483	7.09	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32703	U	0.005743	T	0.01061	0.0035	M	0.72353	2.195	0.33177	D	0.549071	D	0.89917	1.0	D	0.91635	0.999	T	0.52845	-0.8521	10	0.48119	T	0.1	.	8.1191	0.30961	0.1804:0.0:0.0:0.8196	.	100	Q8NGS0	OR1N1_HUMAN	C	100	ENSP00000306974:Y100C	ENSP00000306974:Y100C	Y	-	2	0	OR1N1	124329095	0.343000	0.24818	0.299000	0.25016	0.927000	0.56198	0.203000	0.17315	1.677000	0.50941	0.445000	0.29226	TAT		0.498	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			C	125289274	T	C	125289274	3	2	258	1	0	0	0	0	1	0	0	0	10971	1406	49	3	640	3	OR1N1	9	125289274	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08	49407	125289274	15924157	56	15472											
GATA3	2625	broad.mit.edu	37	10	8115874	8115874	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr10:8115874C>T	ENST00000346208.3	+	6	1675	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.S408L			P23771	GATA3_HUMAN	GATA binding protein 3	407					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(5)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGC	0.602			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	5	Insertion - Frameshift(5)	breast(5)											94	86	89					10																	8115874		2203	4300	6503	SO:0001583	missense	2625			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1220C>T	10.37:g.8115874C>T	ENSP00000341619:p.Ser407Leu		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251642	0.39797	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96365	-3.99;-3.97	5.26	5.26	0.73747	.	0.097993	0.45126	D	0.000383	D	0.88032	0.6328	N	0.03608	-0.345	0.51233	D	0.999911	P;P	0.40602	0.645;0.723	B;B	0.30029	0.054;0.11	D	0.88486	0.3072	10	0.16420	T	0.52	-16.9879	18.8714	0.92317	0.0:1.0:0.0:0.0	.	407;408	P23771;P23771-2	GATA3_HUMAN;.	L	408;407	ENSP00000368632:S408L;ENSP00000341619:S407L	ENSP00000341619:S407L	S	+	2	0	GATA3	8155880	1.000000	0.71417	0.803000	0.32268	0.996000	0.88848	6.040000	0.70980	2.447000	0.82792	0.462000	0.41574	TCG		0.602	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		T	8115874	C	T	8115874	3	4	258	1	0	0	0	0	1	0	0	0	6257	893	31	1	1241	1	GATA3	10	8115874	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08		8115874	127418873	57	15473											
MRC1	4360	broad.mit.edu	37	10	17865198	17865198	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr10:17865198G>A	ENST00000331429.2	+	2	290	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	MRC1L1_ENST00000457317.1_Missense_Mutation_p.E63K																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATGGGTGTCCGAATCTCAGAT	0.488																																																0													49	54	52					10																	17865198		2009	3903	5912	SO:0001583	missense	4360																														ENST00000331429.2:c.187G>A	10.37:g.17865198G>A	ENSP00000332124:p.Glu63Lys			Missense_Mutation	SNP	ENST00000331429.2	37		.	.	.	.	.	.	.	.	.	.	G	6.185	0.402261	0.11696	.	.	ENSG00000183748	ENST00000331429;ENST00000457317	T;T	0.26518	1.73;1.73	4.17	2.04	0.26737	.	1.279330	0.05641	N	0.583436	T	0.08492	0.0211	.	.	.	0.28295	N	0.9233979999999999	P	0.46142	0.873	B	0.28784	0.094	T	0.11084	-1.0602	8	0.11182	T	0.66	-2.0288	2.71	0.05173	0.1497:0.1652:0.5166:0.1685	.	63	B9EJA8	.	K	63	ENSP00000332124:E63K;ENSP00000391843:E63K	ENSP00000332124:E63K	E	+	1	0	AL928580.1	17905204	0.071000	0.21146	0.049000	0.19019	0.666000	0.39218	1.879000	0.39618	0.930000	0.37217	0.552000	0.68991	GAA		0.488	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			A	17865198	G	A	17865198	3	1	258	1	0	0	0	0	1	0	0	0	9758	1059	37	1	193	1	MRC1	10	17865198	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	9749324	17865198	117669549	58	15474											
DNMBP	23268	broad.mit.edu	37	10	101715031	101715031	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr10:101715031C>A	ENST00000324109.4	-	4	2291	c.2200G>T	c.(2200-2202)Gat>Tat	p.D734Y	DNMBP_ENST00000342239.3_Missense_Mutation_p.D734Y|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	734					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AACTTGAGATCCTCGAGGGTC	0.418																																																0													121	115	117					10																	101715031		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2200G>T	10.37:g.101715031C>A	ENSP00000315659:p.Asp734Tyr		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292589	0.40594	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.12147	2.76;2.71	5.8	2.19	0.27852	.	0.650213	0.13487	N	0.384230	T	0.10766	0.0263	L	0.36672	1.1	0.80722	D	1	P	0.40875	0.731	B	0.36244	0.22	T	0.08889	-1.0700	10	0.72032	D	0.01	-2.6758	8.8445	0.35162	0.0:0.2273:0.0:0.7727	.	734	Q6XZF7	DNMBP_HUMAN	Y	734	ENSP00000344914:D734Y;ENSP00000315659:D734Y	ENSP00000315659:D734Y	D	-	1	0	DNMBP	101705021	1.000000	0.71417	0.022000	0.16811	0.864000	0.49448	1.958000	0.40402	0.126000	0.18424	-0.339000	0.08088	GAT		0.418	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		A	101715031	C	A	101715031	3	1	258	1	0	0	0	0	1	0	0	0	4676	855	30	4	2589	4	DNMBP	10	101715031	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	83849833	101715031	33819716	59	15475											
MUC2	4583	broad.mit.edu	37	11	1097728	1097728	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:1097728C>G	ENST00000441003.2	+	36	6848	c.6821C>G	c.(6820-6822)cCc>cGc	p.P2274R	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4636					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.P2274H(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCATTCTGCCCAGCGGGGAG	0.627																																																1	Substitution - Missense(1)	endometrium(1)											62	67	65					11																	1097728		2152	4255	6407	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6821C>G	11.37:g.1097728C>G	ENSP00000415183:p.Pro2274Arg		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	8.150	0.787204	0.16189	.	.	ENSG00000198788	ENST00000441003	T	0.65732	-0.17	3.9	3.9	0.45041	.	.	.	.	.	T	0.63663	0.2530	L	0.53780	1.695	0.28444	N	0.91664	P	0.46784	0.884	P	0.50490	0.642	T	0.54761	-0.8245	9	0.21540	T	0.41	.	11.1645	0.48535	0.0:0.8132:0.1868:0.0	.	2274	E7EUV1	.	R	2274	ENSP00000415183:P2274R	ENSP00000415183:P2274R	P	+	2	0	MUC2	1087728	0.999000	0.42202	0.123000	0.21794	0.010000	0.07245	4.077000	0.57598	1.978000	0.57642	0.556000	0.70494	CCC		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1097728	C	G	1097728	3	3	258	1	0	0	0	0	1	0	0	0	9977	623	22	4	6955	4	MUC2	11	1097728	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08		1097728	133908788	60	15476											
NUP98	4928	broad.mit.edu	37	11	3704554	3704554	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:3704554C>A	ENST00000324932.7	-	30	5214	c.4794G>T	c.(4792-4794)tgG>tgT	p.W1598C	NUP98_ENST00000355260.3_Missense_Mutation_p.W1524C|NUP98_ENST00000359171.4_Missense_Mutation_p.W1524C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1615				S -> T (in Ref. 4; AAL56659). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCTCGTGGATCCATTTGGCAG	0.537			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													143	129	134					11																	3704554		2201	4298	6499	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4794G>T	11.37:g.3704554C>A	ENSP00000316032:p.Trp1598Cys		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.01|19.01	3.743472|3.743472	0.69418|0.69418	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932;ENST00000359171;ENST00000355260	.|.	.|.	.|.	6.14|6.14	6.14|6.14	0.99180|0.99180	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86628|0.86628	0.5978|0.5978	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.88114|0.88114	0.2827|0.2827	5|9	.|0.87932	.|D	.|0	-6.0507|-6.0507	19.8479|19.8479	0.96722|0.96722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1524;1598;1512	.|P52948-2;P52948-5;P52948-6	.|.;.;.	Y|C	551|1598;1524;1524	.|.	.|ENSP00000316032:W1598C	D|W	-|-	1|3	0|0	NUP98|NUP98	3661130|3661130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.473000|0.473000	0.32948|0.32948	7.577000|7.577000	0.82486|0.82486	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAT|TGG		0.537	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		A	3704554	C	A	3704554	3	1	258	1	0	0	0	0	1	0	0	0	10775	856	30	4	624	4	NUP98	11	3704554	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	2606826	3704554	131301962	61	15477											
NUP160	23279	broad.mit.edu	37	11	47819982	47819982	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:47819982C>T	ENST00000378460.2	-	24	2975	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	NUP160_ENST00000528071.1_Missense_Mutation_p.E863K|NUP160_ENST00000530326.1_Missense_Mutation_p.E863K	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	977					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ATAACCAGTTCAGGCAAACCA	0.348																																																0													111	108	109					11																	47819982		2201	4298	6499	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2929G>A	11.37:g.47819982C>T	ENSP00000367721:p.Glu977Lys		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241171	0.95272	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.50548	1.29;0.74;0.74	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.60301	-0.7290	10	0.27785	T	0.31	.	18.1721	0.89749	0.0:1.0:0.0:0.0	.	977	Q12769	NU160_HUMAN	K	977;863;863	ENSP00000367721:E977K;ENSP00000433590:E863K;ENSP00000432367:E863K	ENSP00000367721:E977K	E	-	1	0	NUP160	47776558	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.547000	0.85894	0.655000	0.94253	GAA		0.348	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		T	47819982	C	T	47819982	3	4	258	1	0	0	0	0	1	0	0	0	10759	835	29	2	1433	2	NUP160	11	47819982	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	44115428	47819982	87186534	62	15478											
NAALADL1	10004	broad.mit.edu	37	11	64813784	64813784	+	Missense_Mutation	SNP	G	G	A	rs201741811		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:64813784G>A	ENST00000358658.3	-	15	1759	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	NAALADL1_ENST00000355369.2_Missense_Mutation_p.P520L|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R543W|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R537W|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000340252.4_Missense_Mutation_p.R629W	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	578	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCACTGAGCCGGAGAATCACA	0.612																																																0								G	TRP/ARG	0,4402		0,0,2201	67	58	61		1732	4.2	0.8	11		61	5,8589	4.3+/-15.6	0,5,4292	yes	missense	NAALADL1	NM_005468.2	101	0,5,6493	AA,AG,GG		0.0582,0.0,0.0385	probably-damaging	578/741	64813784	5,12991	2201	4297	6498	SO:0001583	missense	10004			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1732C>T	11.37:g.64813784G>A	ENSP00000351484:p.Arg578Trp		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	CCDS31604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.56|16.56	3.158362|3.158362	0.57368|0.57368	0.0|0.0	5.82E-4|5.82E-4	ENSG00000168060|ENSG00000168060	ENST00000355369|ENST00000358658;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632;ENST00000530139	T|T;T;T;T;T	0.46063|0.43294	0.88|0.95;0.95;0.95;0.95;0.95	5.13|5.13	4.2|4.2	0.49525|0.49525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67230|0.67230	0.2871|0.2871	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.63703	.|0.917	T|T	0.75082|0.75082	-0.3443|-0.3443	7|10	0.87932|0.87932	D|D	0|0	-35.9351|-35.9351	12.8155|12.8155	0.57663|0.57663	0.0:0.0:0.8252:0.1748|0.0:0.0:0.8252:0.1748	.|.	.|578	.|Q9UQQ1	.|NALDL_HUMAN	L|W	520|578;578;629;537;543;54	ENSP00000347530:P520L|ENSP00000351484:R578W;ENSP00000344244:R629W;ENSP00000347955:R537W;ENSP00000349045:R543W;ENSP00000434233:R54W	ENSP00000347530:P520L|ENSP00000344244:R629W	P|R	-|-	2|1	0|2	NAALADL1|NAALADL1	64570360|64570360	1.000000|1.000000	0.71417|0.71417	0.837000|0.837000	0.33122|0.33122	0.707000|0.707000	0.40811|0.40811	5.217000|5.217000	0.65252|0.65252	1.267000|1.267000	0.44247|0.44247	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.612	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		A	64813784	G	A	64813784	3	1	258	1	0	0	0	0	1	0	0	0	10131	1115	39	1	506	1	NAALADL1	11	64813784	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	16993802	64813784	70192732	63	15479											
SLC22A20	440044	broad.mit.edu	37	11	64991021	64991021	+	RNA	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:64991021G>A	ENST00000525437.1	+	0	1051							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CCGGCCATCCGCAAGGTCACA	0.532																																																0													76	79	78					11																	64991021		1961	4158	6119			440044			DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"Solute carriers"	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64991021G>A			B9EJB2|Q6ZN88	RNA	SNP	ENST00000525437.1	37																																																																																					0.532	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		A	64991021	G	A	64991021	1	1	258	0	1	0	0	0	0	0	0	0	14457	1074	38	1		1	SLC22A20	11	64991021	RNA	SNP	G	TCGA-B4-5832-01A-11D-1669-08	177237	64991021	70015495	64	15480											
SYT10	341359	broad.mit.edu	37	12	33579216	33579217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:33579216_33579217insG	ENST00000228567.3	-	2	661_662	c.365_366insC	c.(364-366)ccafs	p.P122fs	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	122					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTTTTACGGCTGGCTTTTCATT	0.391																																																0																																										SO:0001589	frameshift_variant	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.366dupC	12.37:g.33579218_33579218dupG	ENSP00000228567:p.Pro122fs		Q495U2	Frame_Shift_Ins	INS	ENST00000228567.3	37	CCDS8732.1																																																																																				0.391	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		G	33579217	-	G	33579216	7	5	258	1	0	1	1	0	0	0	0	0	15471	1567	55	0	1229	0	SYT10	12	33579216	Frame_Shift_Ins	INS	-	TCGA-B4-5832-01A-11D-1669-08		33579216	100272679	65	15481											
ASB8	140461	broad.mit.edu	37	12	48547183	48547183	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:48547183G>A	ENST00000317697.3	-	2	266	c.97C>T	c.(97-99)Cca>Tca	p.P33S	ASB8_ENST00000537754.1_Intron|ASB8_ENST00000539528.1_Missense_Mutation_p.P33S|ASB8_ENST00000540782.1_Missense_Mutation_p.P33S|ASB8_ENST00000535988.1_Missense_Mutation_p.P33S|ASB8_ENST00000536549.1_Missense_Mutation_p.P33S|ASB8_ENST00000536953.1_Missense_Mutation_p.P33S|ASB8_ENST00000536071.1_Missense_Mutation_p.P33S|ASB8_ENST00000535055.1_Missense_Mutation_p.P33S	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	33					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TTATCATGTGGGAAGGAACGG	0.468																																																0													206	198	201					12																	48547183		2203	4300	6503	SO:0001583	missense	140461			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"Ankyrin repeat domain containing"	17183	protein-coding gene	gene with protein product		615053	"ankyrin repeat and SOCS box-containing 8"			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.97C>T	12.37:g.48547183G>A	ENSP00000320893:p.Pro33Ser		A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912692	0.52439	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549;ENST00000536953;ENST00000539528;ENST00000535055;ENST00000536071;ENST00000539503;ENST00000545791;ENST00000540212;ENST00000540782;ENST00000535988;ENST00000548228	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;0.07;0.07;0.07;0.07;-0.16;0.06;0.06;0.07;0.07	5.07	5.07	0.68467	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	N	0.01122	-1.005	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.54761	-0.8245	10	0.02654	T	1	-8.8654	18.4424	0.90671	0.0:0.0:1.0:0.0	.	33	Q9H765	ASB8_HUMAN	S	33	ENSP00000320893:P33S;ENSP00000445622:P33S;ENSP00000438498:P33S;ENSP00000445540:P33S;ENSP00000440773:P33S;ENSP00000442737:P33S;ENSP00000444093:P33S;ENSP00000437769:P33S;ENSP00000442639:P33S;ENSP00000437530:P33S;ENSP00000443148:P33S	ENSP00000320893:P33S	P	-	1	0	ASB8	46833450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.995000	0.93534	2.521000	0.84997	0.650000	0.86243	CCA		0.468	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			A	48547183	G	A	48547183	3	1	258	1	0	0	0	0	1	0	0	0	1029	1232	43	2	781	2	ASB8	12	48547183	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	14967967	48547183	85304712	66	15482											
TBK1	29110	broad.mit.edu	37	12	64889519	64889519	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:64889519A>C	ENST00000331710.5	+	15	2023	c.1684A>C	c.(1684-1686)Att>Ctt	p.I562L		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	562					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CATGACAGAGATTTACTATCA	0.264																																																0													34	34	34					12																	64889519		2199	4298	6497	SO:0001583	missense	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1684A>C	12.37:g.64889519A>C	ENSP00000329967:p.Ile562Leu		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155132	0.78114	.	.	ENSG00000183735	ENST00000331710	T	0.19105	2.17	4.77	4.77	0.60923	.	0.049649	0.85682	D	0.000000	T	0.31071	0.0785	L	0.32530	0.975	0.54753	D	0.999987	P	0.48016	0.904	P	0.58873	0.847	T	0.01819	-1.1267	9	.	.	.	-13.2708	14.9944	0.71418	1.0:0.0:0.0:0.0	.	562	Q9UHD2	TBK1_HUMAN	L	562	ENSP00000329967:I562L	.	I	+	1	0	TBK1	63175786	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.808000	0.86044	2.087000	0.62958	0.533000	0.62120	ATT		0.264	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		C	64889519	A	C	64889519	3	2	258	1	0	0	0	0	1	0	0	0	15642	333	12	5	1738	5	TBK1	12	64889519	Missense_Mutation	SNP	A	TCGA-B4-5832-01A-11D-1669-08	16342336	64889519	68962376	67	15483											
C12orf50	160419	broad.mit.edu	37	12	88390202	88390202	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:88390202C>G	ENST00000298699.2	-	6	610	c.430G>C	c.(430-432)Gca>Cca	p.A144P	C12orf50_ENST00000550553.1_Missense_Mutation_p.A144P	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	144										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGTTTTTCTGCTGTAGGTGTC	0.338																																																0													161	154	156					12																	88390202		2203	4300	6503	SO:0001583	missense	160419			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.430G>C	12.37:g.88390202C>G	ENSP00000298699:p.Ala144Pro		Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	C	6.213	0.407410	0.11754	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.30981	1.52;1.51	5.33	3.44	0.39384	.	0.872749	0.09793	N	0.755184	T	0.28001	0.0690	L	0.51422	1.61	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.002;0.003	T	0.26815	-1.0092	10	0.26408	T	0.33	.	8.9897	0.36017	0.158:0.5359:0.3061:0.0	.	198;144	G3V208;Q8NA57	.;CL050_HUMAN	P	144;144;198	ENSP00000298699:A144P;ENSP00000448344:A144P	ENSP00000298699:A144P	A	-	1	0	C12orf50	86914333	0.019000	0.18553	0.013000	0.15412	0.653000	0.38743	0.608000	0.24223	0.568000	0.29311	-0.311000	0.09066	GCA		0.338	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		G	88390202	C	G	88390202	3	3	258	1	0	0	0	0	1	0	0	0	1697	797	28	4	846	4	C12orf50	12	88390202	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	23500683	88390202	45461693	68	15484											
CCDC63	160762	broad.mit.edu	37	12	111336801	111336811	+	Frame_Shift_Del	DEL	AGACCTTGGAT	AGACCTTGGAT	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:111336801_111336811delAGACCTTGGAT	ENST00000308208.5	+	10	1456_1466	c.1214_1224delAGACCTTGGAT	c.(1213-1224)aagaccttggatfs	p.KTLD405fs	CCDC63_ENST00000552694.1_Frame_Shift_Del_p.KTLD326fs|CCDC63_ENST00000545036.1_Frame_Shift_Del_p.KTLD365fs	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	405								p.D408Y(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAGGTCAGCAAGACCTTGGATCTATTGAAGA	0.512																																																2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	160762			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1214_1224delAGACCTTGGAT	12.37:g.111336801_111336811delAGACCTTGGAT	ENSP00000312399:p.Lys405fs		B4DY03|Q0P603|Q6P2E1	Frame_Shift_Del	DEL	ENST00000308208.5	37	CCDS9151.1																																																																																				0.512	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		-	111336811	AGACCTTGGAT	-	111336801	7	5	258	1	0	1	0	1	0	0	0	0	2836	72	3	0	1248	0	CCDC63	12	111336801	Frame_Shift_Del	DEL	AGACCTTGGAT	TCGA-B4-5832-01A-11D-1669-08	22946599	111336801	22515094	69	15485											
TAOK3	51347	broad.mit.edu	37	12	118598053	118598053	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:118598053delG	ENST00000392533.3	-	19	2740	c.2250delC	c.(2248-2250)cacfs	p.H750fs	TAOK3_ENST00000419821.2_Frame_Shift_Del_p.H750fs|TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000537952.1_Frame_Shift_Del_p.H290fs	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	750					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATTGTTTTGTGCTCATTCT	0.373																																																0													305	268	281					12																	118598053		2203	4300	6503	SO:0001589	frameshift_variant	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2250delC	12.37:g.118598053delG	ENSP00000376317:p.His750fs		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Frame_Shift_Del	DEL	ENST00000392533.3	37	CCDS9188.1																																																																																				0.373	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		-	118598053	G	-	118598053	7	5	258	1	0	1	0	1	0	0	0	0	15554	1368	48	0	458	0	TAOK3	12	118598053	Frame_Shift_Del	DEL	G	TCGA-B4-5832-01A-11D-1669-08	7261252	118598053	15253842	70	15486											
FLT1	2321	broad.mit.edu	37	13	29002018	29002018	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr13:29002018A>G	ENST00000282397.4	-	9	1398	c.1147T>C	c.(1147-1149)Tat>Cat	p.Y383H	FLT1_ENST00000541932.1_Missense_Mutation_p.Y383H|FLT1_ENST00000539099.1_Missense_Mutation_p.Y383H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	383	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|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 phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGAGTCAAATAGCGAGCAGAT	0.388																																																0													115	106	109					13																	29002018		2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1147T>C	13.37:g.29002018A>G	ENSP00000282397:p.Tyr383His		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.968489	0.53614	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.67345	-0.26;-0.26;-0.26	5.85	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 1 (VEGFR1), N-terminal (1);Immunoglobulin-like fold (1);	0.127437	0.56097	D	0.000034	T	0.73976	0.3656	L	0.46819	1.47	0.53688	D	0.999973	D;D;D;D	0.69078	0.997;0.997;0.997;0.986	D;D;D;D	0.76575	0.988;0.984;0.988;0.958	T	0.69771	-0.5055	10	0.25106	T	0.35	.	12.3657	0.55226	0.8735:0.0:0.0:0.1264	.	383;383;383;383	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	H	383	ENSP00000282397:Y383H;ENSP00000437631:Y383H;ENSP00000442630:Y383H	ENSP00000282397:Y383H	Y	-	1	0	FLT1	27900018	1.000000	0.71417	0.795000	0.32087	0.329000	0.28539	6.423000	0.73361	1.009000	0.39289	0.528000	0.53228	TAT		0.388	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			G	29002018	A	G	29002018	3	3	258	1	0	0	0	0	1	0	0	0	5943	420	15	3	3220	3	FLT1	13	29002018	Missense_Mutation	SNP	A	TCGA-B4-5832-01A-11D-1669-08		29002018	86167860	71	15487											
NGB	58157	broad.mit.edu	37	14	77734858	77734858	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr14:77734858C>A	ENST00000298352.4	-	3	646	c.272G>T	c.(271-273)aGc>aTc	p.S91I	MIR1260A_ENST00000408827.1_RNA	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	91	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCTGCCCAGGCTGGCAAGGTA	0.587																																																0													121	97	105					14																	77734858		2203	4300	6503	SO:0001583	missense	58157			AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.272G>T	14.37:g.77734858C>A	ENSP00000298352:p.Ser91Ile			Missense_Mutation	SNP	ENST00000298352.4	37	CCDS9856.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253795	0.39896	.	.	ENSG00000165553	ENST00000298352	D	0.93189	-3.18	4.44	0.953	0.19590	Globin-like (1);Globin, structural domain (1);	0.420159	0.28354	N	0.015654	D	0.93148	0.7818	L	0.52573	1.65	0.36583	D	0.873676	D	0.61080	0.989	D	0.69479	0.964	D	0.90706	0.4624	10	0.49607	T	0.09	.	4.3226	0.11025	0.0:0.5027:0.1876:0.3097	.	91	Q9NPG2	NGB_HUMAN	I	91	ENSP00000298352:S91I	ENSP00000298352:S91I	S	-	2	0	NGB	76804611	0.970000	0.33590	0.423000	0.26634	0.424000	0.31475	1.737000	0.38197	0.312000	0.23038	-0.424000	0.05967	AGC		0.587	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414194.1	NM_021257		A	77734858	C	A	77734858	3	1	258	1	0	0	0	0	1	0	0	0	10394	797	28	4	191	4	NGB	14	77734858	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08		77734858	29614682	72	15488											
KLC1	3831	broad.mit.edu	37	14	104145868	104145868	+	Missense_Mutation	SNP	G	G	T	rs373604676		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr14:104145868G>T	ENST00000348520.6	+	13	1955	c.1636G>T	c.(1636-1638)Gta>Tta	p.V546L	KLC1_ENST00000445352.4_Intron|KLC1_ENST00000553286.1_Missense_Mutation_p.V546L|KLC1_ENST00000380038.3_Intron|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.V718L|KLC1_ENST00000389744.4_Missense_Mutation_p.V546L|KLC1_ENST00000557450.1_Intron|RP11-894P9.1_ENST00000498989.2_RNA|KLC1_ENST00000554280.1_Intron|KLC1_ENST00000557575.1_Missense_Mutation_p.V546L|KLC1_ENST00000347839.6_Intron|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000246489.7_Missense_Mutation_p.V546L|KLC1_ENST00000452929.2_Missense_Mutation_p.V546L|KLC1_ENST00000334553.6_Missense_Mutation_p.V546L	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	546					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GAGTATGAGCGTAGAGTGGAA	0.612																																																0													162	125	138					14																	104145868		2203	4300	6503	SO:0001583	missense	3831			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"Tetratricopeptide (TTC) repeat domain containing"	6387	protein-coding gene	gene with protein product		600025	"kinesin 2 60/70kDa", "kinesin 2"	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1636G>T	14.37:g.104145868G>T	ENSP00000341154:p.Val546Leu		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	CCDS41996.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.602159|4.602159	0.87055|0.87055	.|.	.|.	ENSG00000126214|ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000537046;ENST00000535194|ENST00000348520;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000334553;ENST00000246489;ENST00000452929;ENST00000472726	.|T;T;T;T;T;T;T;T	.|0.79940	.|-1.32;-1.31;-1.25;-1.31;-1.27;-1.26;-1.27;-0.57	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84790|0.84790	0.5550|0.5550	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|P;B;P;P	.|0.50066	.|0.783;0.078;0.73;0.931	.|B;B;B;P	.|0.60286	.|0.242;0.05;0.396;0.872	T|T	0.83196|0.83196	-0.0081|-0.0081	5|10	.|0.41790	.|T	.|0.15	-10.1584|-10.1584	20.1381|20.1381	0.98040|0.98040	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|546;718;546;546	.|F8VTM4;E7EVH7;Q07866-4;Q07866	.|.;.;.;KLC1_HUMAN	L|L	176;45|546;546;546;546;546;546;546;718	.|ENSP00000341154:V546L;ENSP00000374394:V546L;ENSP00000450617:V546L;ENSP00000452487:V546L;ENSP00000334523:V546L;ENSP00000246489:V546L;ENSP00000414982:V546L;ENSP00000439065:V718L	.|ENSP00000246489:V546L	R|V	+|+	2|1	0|0	KLC1|KLC1;RP11-73M18.2	103215621|103215621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.787000|9.787000	0.99055|0.99055	2.763000|2.763000	0.94921|0.94921	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.612	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		T	104145868	G	T	104145868	3	4	258	1	0	0	0	0	1	0	0	0	8335	1145	40	4	1682	4	KLC1	14	104145868	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	26411010	104145868	3203672	73	15489											
PLIN1	5346	broad.mit.edu	37	15	90220708	90220708	+	Missense_Mutation	SNP	T	T	C	rs554749197	byFrequency	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr15:90220708T>C	ENST00000300055.5	-	2	178	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	PEX11A_ENST00000557982.1_5'Flank|PLIN1_ENST00000430628.2_Missense_Mutation_p.K5E	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	5					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GTGAGGCCTTTGTTGACTGCC	0.567													T|||	3	0.000599042	0.0	0.0	5008	,	,		17376	0.0		0.0	False		,,,				2504	0.0031															0													264	235	245					15																	90220708		2200	4299	6499	SO:0001583	missense	5346			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"Perilipins"	9076	protein-coding gene	gene with protein product		170290	"perilipin"	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.13A>G	15.37:g.90220708T>C	ENSP00000300055:p.Lys5Glu		Q8N5Y6	Missense_Mutation	SNP	ENST00000300055.5	37	CCDS10353.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.576713	0.65878	.	.	ENSG00000166819	ENST00000300055;ENST00000430628	T;T	0.17213	2.29;2.29	5.65	5.65	0.86999	.	0.440850	0.20931	N	0.083100	T	0.15522	0.0374	N	0.24115	0.695	0.29628	N	0.845669	P	0.52316	0.952	P	0.44518	0.452	T	0.03555	-1.1025	10	0.87932	D	0	-30.5077	13.6633	0.62380	0.0:0.0:0.0:1.0	.	5	O60240	PLIN1_HUMAN	E	5	ENSP00000300055:K5E;ENSP00000402167:K5E	ENSP00000300055:K5E	K	-	1	0	PLIN1	88021712	1.000000	0.71417	0.999000	0.59377	0.395000	0.30598	3.120000	0.50430	2.171000	0.68590	0.456000	0.33151	AAA		0.567	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		C	90220708	T	C	90220708	3	2	258	1	0	0	0	0	1	0	0	0	12091	1821	63	3	1587	3	PLIN1	15	90220708	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08		90220708	12310684	74	15490											
DOK4	55715	broad.mit.edu	37	16	57509512	57509512	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr16:57509512G>A	ENST00000340099.4	-	4	566	c.195C>T	c.(193-195)gtC>gtT	p.V65V	DOK4_ENST00000569548.1_Silent_p.V65V|DOK4_ENST00000566936.1_Silent_p.V65V|DOK4_ENST00000561918.1_5'UTR	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	65	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						TAACACACTTGACGTTGCTGA	0.572																																																0													73	60	64					16																	57509512		2198	4300	6498	SO:0001819	synonymous_variant	55715			BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"Pleckstrin homology (PH) domain containing"	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.195C>T	16.37:g.57509512G>A			O75209|Q9BTP2|Q9NVV3	Silent	SNP	ENST00000340099.4	37	CCDS10783.1																																																																																				0.572	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			A	57509512	G	A	57509512	2	1	258	1	0	0	0	0	0	0	0	1	4701	1277	45	2		2	DOK4	16	57509512	Silent	SNP	G	TCGA-B4-5832-01A-11D-1669-08		57509512	32845241	75	15491											
ZNF319	57567	broad.mit.edu	37	16	58030711	58030711	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr16:58030711T>G	ENST00000299237.2	-	2	2081	c.1459A>C	c.(1459-1461)Aag>Cag	p.K487Q	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TCTGGGCACTTGAGTGGCTTC	0.637																																																0													48	42	44					16																	58030711		2198	4300	6498	SO:0001583	missense	57567			AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1459A>C	16.37:g.58030711T>G	ENSP00000299237:p.Lys487Gln		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.676650	0.29783	.	.	ENSG00000166188	ENST00000299237	T	0.57752	0.38	5.21	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	N	0.20574	0.59	0.46044	D	0.99883	D	0.89917	1.0	D	0.68483	0.958	T	0.52162	-0.8612	10	0.42905	T	0.14	-22.8032	10.1122	0.42570	0.0:0.0789:0.0:0.9211	.	487	Q9P2F9	ZN319_HUMAN	Q	487	ENSP00000299237:K487Q	ENSP00000299237:K487Q	K	-	1	0	ZNF319	56588212	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	6.280000	0.72626	0.828000	0.34709	-0.250000	0.11733	AAG		0.637	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			G	58030711	T	G	58030711	3	3	258	1	0	0	0	0	1	0	0	0	17842	1821	63	5	293	5	ZNF319	16	58030711	Missense_Mutation	SNP	T	TCGA-B4-5832-01A-11D-1669-08	521199	58030711	32324042	76	15492											
ETV4	2118	broad.mit.edu	37	17	41611247	41611247	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:41611247G>A	ENST00000319349.5	-	6	661	c.363C>T	c.(361-363)ggC>ggT	p.G121G	ETV4_ENST00000545089.1_Silent_p.G121G|ETV4_ENST00000393664.2_Silent_p.G121G|ETV4_ENST00000591713.1_Silent_p.G121G|ETV4_ENST00000545954.1_Silent_p.G82G|ETV4_ENST00000538265.1_Silent_p.G82G	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	121					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GGCACTGCTCGCCATGGTGGT	0.657			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)		Dom	yes		17	17q21	2118	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"		"M, E"	0													50	49	49					17																	41611247		2203	4300	6503	SO:0001819	synonymous_variant	2118			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.363C>T	17.37:g.41611247G>A			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	ENST00000319349.5	37	CCDS11465.1																																																																																				0.657	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		A	41611247	G	A	41611247	2	1	258	1	0	0	0	0	0	0	0	1	5283	1074	38	1		1	ETV4	17	41611247	Silent	SNP	G	TCGA-B4-5832-01A-11D-1669-08		41611247	39583963	77	15493											
MAP3K3	4215	broad.mit.edu	37	17	61767721	61767721	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:61767721A>C	ENST00000361733.3	+	12	1481	c.1161A>C	c.(1159-1161)gaA>gaC	p.E387D	MAP3K3_ENST00000361357.3_Missense_Mutation_p.E418D|MAP3K3_ENST00000584573.1_Missense_Mutation_p.E414D|MAP3K3_ENST00000577395.1_Missense_Mutation_p.E383D|MAP3K3_ENST00000579585.1_Missense_Mutation_p.E418D	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	387	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGGGACGTGAACTTGCTTCCA	0.542																																																0													106	88	94					17																	61767721		2203	4300	6503	SO:0001583	missense	4215			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1161A>C	17.37:g.61767721A>C	ENSP00000354485:p.Glu387Asp		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435683	0.83885	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.66280	-0.2;-0.2	5.23	3.0	0.34707	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	N	0.26042	0.785	0.58432	D	0.999997	D;D;P;P	0.54601	0.967;0.967;0.885;0.863	P;P;P;P	0.61132	0.838;0.884;0.803;0.703	T	0.62553	-0.6830	10	0.72032	D	0.01	.	8.4844	0.33063	0.7733:0.0:0.2267:0.0	.	383;355;387;418	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	D	418;387	ENSP00000354927:E418D;ENSP00000354485:E387D	ENSP00000354927:E418D	E	+	3	2	MAP3K3	59121453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.756000	0.26419	0.934000	0.37316	0.459000	0.35465	GAA		0.542	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		C	61767721	A	C	61767721	3	2	258	1	0	0	0	0	1	0	0	0	9253	40	2	5	1304	5	MAP3K3	17	61767721	Missense_Mutation	SNP	A	TCGA-B4-5832-01A-11D-1669-08	20156474	61767721	19427489	78	15494											
TMPRSS9	360200	broad.mit.edu	37	19	2424138	2424138	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:2424138C>T	ENST00000332578.3	+	14	2498	c.2498C>T	c.(2497-2499)gCg>gTg	p.A833V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	833	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGCGCAGCGGGCCGTGGG	0.761																																																0													9	13	11					19																	2424138		2105	4056	6161	SO:0001583	missense	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2498C>T	19.37:g.2424138C>T	ENSP00000330264:p.Ala833Val		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681540	0.47991	.	.	ENSG00000178297	ENST00000332578	D	0.94417	-3.42	4.35	4.35	0.52113	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000023	D	0.96371	0.8816	M	0.67625	2.065	0.34561	D	0.712363	D	0.89917	1.0	D	0.75020	0.985	D	0.99863	1.1086	10	0.56958	D	0.05	.	14.3702	0.66833	0.0:1.0:0.0:0.0	.	833	Q7Z410	TMPS9_HUMAN	V	833	ENSP00000330264:A833V	ENSP00000330264:A833V	A	+	2	0	TMPRSS9	2375138	0.986000	0.35501	0.029000	0.17559	0.005000	0.04900	2.959000	0.49153	1.976000	0.57569	0.561000	0.74099	GCG		0.761	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		T	2424138	C	T	2424138	3	4	258	1	0	0	0	0	1	0	0	0	16258	768	27	1	2552	1	TMPRSS9	19	2424138	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08		2424138	56704845	79	15495											
TJP3	27134	broad.mit.edu	37	19	3728677	3728677	+	Missense_Mutation	SNP	G	G	A	rs150589606		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:3728677G>A	ENST00000541714.2	+	3	586	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	TJP3_ENST00000587686.1_Missense_Mutation_p.V61M|TJP3_ENST00000539908.2_Missense_Mutation_p.V6M|TJP3_ENST00000382008.3_Missense_Mutation_p.V42M|TJP3_ENST00000589378.1_Missense_Mutation_p.V51M|TJP3_ENST00000262968.9_Missense_Mutation_p.V61M	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	42	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTATCTGACGTGGTACCTGG	0.652																																																0								G	MET/VAL	0,4406		0,0,2203	37	40	39		181	4	0.9	19	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	missense	TJP3	NM_014428.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	61/953	3728677	1,13005	2203	4300	6503	SO:0001583	missense	27134			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.124G>A	19.37:g.3728677G>A	ENSP00000439278:p.Val42Met		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092056	0.55968	0.0	1.16E-4	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.60424	0.93;0.19;0.93;1.64	4.02	4.02	0.46733	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.80121	0.4565	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.79108	0.986;0.917;0.992;0.991	D	0.84709	0.0733	10	0.54805	T	0.06	.	15.7177	0.77681	0.0:0.0:1.0:0.0	.	61;61;42;42	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	M	42;6;42;61	ENSP00000439278:V42M;ENSP00000439991:V6M;ENSP00000371438:V42M;ENSP00000262968:V61M	ENSP00000262968:V61M	V	+	1	0	TJP3	3679677	1.000000	0.71417	0.908000	0.35775	0.044000	0.14063	8.821000	0.92009	2.253000	0.74438	0.456000	0.33151	GTG		0.652	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			A	3728677	G	A	3728677	3	1	258	1	0	0	0	0	1	0	0	0	15936	1145	40	1	187	1	TJP3	19	3728677	Missense_Mutation	SNP	G	TCGA-B4-5832-01A-11D-1669-08	1304539	3728677	55400306	80	15496											
RFX2	5990	broad.mit.edu	37	19	5997191	5997191	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:5997191G>A	ENST00000303657.5	-	16	2042	c.1893C>T	c.(1891-1893)agC>agT	p.S631S	RFX2_ENST00000359161.3_Silent_p.S631S|RFX2_ENST00000592546.1_Silent_p.S606S|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	631					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						AGCTGGCAGCGCTGCGCAGGG	0.672																																					Colon(38;171 817 19800 47433 48051)											0													72	55	60					19																	5997191		2203	4300	6503	SO:0001819	synonymous_variant	5990				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.1893C>T	19.37:g.5997191G>A			A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	CCDS12157.1																																																																																				0.672	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		A	5997191	G	A	5997191	2	1	258	1	0	0	0	0	0	0	0	1	13269	1078	38	1		1	RFX2	19	5997191	Silent	SNP	G	TCGA-B4-5832-01A-11D-1669-08	2268514	5997191	53131792	81	15497											
ZNF585B	92285	broad.mit.edu	37	19	37677424	37677424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:37677424delA	ENST00000532828.2	-	5	1266	c.1015delT	c.(1015-1017)tccfs	p.S339fs	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Frame_Shift_Del_p.S284fs|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAGGTTGGAATTATTGCTG	0.398																																					Melanoma(93;882 1454 18863 28917 48427)											0													167	153	158					19																	37677424		2203	4300	6503	SO:0001589	frameshift_variant	92285			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1015delT	19.37:g.37677424delA	ENSP00000433773:p.Ser339fs		Q8IZD3|Q96JW6	Frame_Shift_Del	DEL	ENST00000532828.2	37	CCDS12500.1																																																																																				0.398	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		-	37677424	A	-	37677424	7	5	258	1	0	1	0	1	0	0	0	0	18023	246	9	0	1298	0	ZNF585B	19	37677424	Frame_Shift_Del	DEL	A	TCGA-B4-5832-01A-11D-1669-08	31680233	37677424	21451559	82	15498											
GPR32	2854	broad.mit.edu	37	19	51274133	51274133	+	Silent	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:51274133A>G	ENST00000270590.4	+	1	413	c.276A>G	c.(274-276)tcA>tcG	p.S92S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	92					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCATGCTCTCACTGTCTCTGC	0.552																																					Esophageal Squamous(113;152 1581 5732 15840 44398)											0													158	127	138					19																	51274133		2203	4300	6503	SO:0001819	synonymous_variant	2854			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.276A>G	19.37:g.51274133A>G			Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	CCDS12801.1																																																																																				0.552	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			G	51274133	A	G	51274133	2	3	258	1	0	0	0	0	0	0	0	1	6690	146	6	3		3	GPR32	19	51274133	Silent	SNP	A	TCGA-B4-5832-01A-11D-1669-08	13596709	51274133	7854850	83	15499											
BANF2	140836	broad.mit.edu	37	20	17705770	17705770	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:17705770A>G	ENST00000246090.5	+	3	362	c.100A>G	c.(100-102)Aat>Gat	p.N34D	BANF2_ENST00000377805.3_Missense_Mutation_p.N34D|BANF2_ENST00000545418.2_Missense_Mutation_p.N41D	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	34						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						GCTCGCGATCAATTTGGTCAC	0.488																																																0													151	139	143					20																	17705770		2203	4300	6503	SO:0001583	missense	140836			BC054871	CCDS13129.1, CCDS54449.1	20p12.1	2007-12-17	2007-12-17	2007-12-17	ENSG00000125888	ENSG00000125888			16172	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 179"	C20orf179			Standard	NM_178477		Approved	dJ803K15.1, BAF-L, BAFL, BAF2	uc010zrs.1	Q9H503	OTTHUMG00000031949	ENST00000246090.5:c.100A>G	20.37:g.17705770A>G	ENSP00000246090:p.Asn34Asp		D3DW25|F5H3F6|Q7Z4M6	Missense_Mutation	SNP	ENST00000246090.5	37	CCDS13129.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943603	0.53079	.	.	ENSG00000125888	ENST00000545418;ENST00000427254;ENST00000377805;ENST00000246090	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.05	3.86	0.44501	.	0.288164	0.27720	N	0.018128	T	0.40932	0.1137	.	.	.	0.27545	N	0.950669	P;P	0.39576	0.667;0.679	B;B	0.37387	0.179;0.248	T	0.46512	-0.9186	9	0.87932	D	0	.	8.2961	0.31986	0.7993:0.2007:0.0:0.0	.	41;34	F5H3F6;Q9H503	.;BAFL_HUMAN	D	41;34;34;34	ENSP00000439128:N41D;ENSP00000398738:N34D;ENSP00000367036:N34D;ENSP00000246090:N34D	ENSP00000246090:N34D	N	+	1	0	BANF2	17653770	0.998000	0.40836	0.983000	0.44433	0.705000	0.40729	2.518000	0.45537	2.184000	0.69523	0.533000	0.62120	AAT		0.488	BANF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102261.2	NM_178477		G	17705770	A	G	17705770	3	3	258	1	0	0	0	0	1	0	0	0	1308	130	5	3	127	3	BANF2	20	17705770	Missense_Mutation	SNP	A	TCGA-B4-5832-01A-11D-1669-08		17705770	45319750	84	15500											
SAMHD1	25939	broad.mit.edu	37	20	35579886	35579886	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:35579886delA	ENST00000262878.4	-	1	360	c.161delT	c.(160-162)ctcfs	p.L54fs	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	54	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ACCGCGCCTGAGGAAGGAGCA	0.677																																																0													76	87	83					20																	35579886		2203	4300	6503	SO:0001589	frameshift_variant	25939			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.161delT	20.37:g.35579886delA	ENSP00000262878:p.Leu54fs		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Frame_Shift_Del	DEL	ENST00000262878.4	37	CCDS13288.1																																																																																				0.677	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		-	35579886	A	-	35579886	7	5	258	1	0	1	0	1	0	0	0	0	13834	304	11	0	1783	0	SAMHD1	20	35579886	Frame_Shift_Del	DEL	A	TCGA-B4-5832-01A-11D-1669-08	17874116	35579886	27445634	85	15501											
ATP9A	10079	broad.mit.edu	37	20	50329572	50329572	+	Silent	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:50329572C>T	ENST00000338821.5	-	4	633	c.369G>A	c.(367-369)gaG>gaA	p.E123E	ATP9A_ENST00000311637.5_Silent_p.E108E|ATP9A_ENST00000402822.1_Silent_p.E123E	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	123					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCGGATCTCCTCCACCGCCT	0.622																																																0													102	70	81					20																	50329572		2203	4300	6503	SO:0001819	synonymous_variant	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.369G>A	20.37:g.50329572C>T			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	CCDS33489.1																																																																																				0.622	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		T	50329572	C	T	50329572	2	4	258	1	0	0	0	0	0	0	0	1	1198	680	24	2		2	ATP9A	20	50329572	Silent	SNP	C	TCGA-B4-5832-01A-11D-1669-08	14749686	50329572	12695948	86	15502											
C20orf151	140893	broad.mit.edu	37	20	60987771	60987771	+	Silent	SNP	C	C	T	rs540423937		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:60987771C>T	ENST00000252998.1	-	13	1941	c.1785G>A	c.(1783-1785)acG>acA	p.T595T		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	595						extracellular space (GO:0005615)											CCTCCCCGGTCGTGCTCGTAG	0.687																																																0													60	58	58					20																	60987771		2202	4298	6500	SO:0001819	synonymous_variant	140893			AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1785G>A	20.37:g.60987771C>T			B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	CCDS13498.1																																																																																				0.687	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		T	60987771	C	T	60987771	2	4	258	1	0	0	0	0	0	0	0	1	2093	871	31	1		1	C20orf151	20	60987771	Silent	SNP	C	TCGA-B4-5832-01A-11D-1669-08	10658199	60987771	2037749	87	15503											
SLC7A3	84889	broad.mit.edu	37	X	70147194	70147194	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:70147194G>A	ENST00000374299.3	-	8	1368	c.1224C>T	c.(1222-1224)gaC>gaT	p.D408D	SLC7A3_ENST00000298085.4_Silent_p.D408D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	408					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGACATGAGGTCCACAAGAT	0.423																																																0													141	113	123					X																	70147194		2203	4300	6503	SO:0001819	synonymous_variant	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1224C>T	X.37:g.70147194G>A			D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	CCDS14404.1																																																																																				0.423	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		A	70147194	G	A	70147194	2	1	258	1	0	0	0	0	0	0	0	1	14704	1252	44	2		2	SLC7A3	23	70147194	Silent	SNP	G	TCGA-B4-5832-01A-11D-1669-08		70147194	85123366	88	15504											
PABPC5	140886	broad.mit.edu	37	X	90691444	90691444	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:90691444C>G	ENST00000312600.3	+	2	1082	c.868C>G	c.(868-870)Cgg>Ggg	p.R290G	PABPC5_ENST00000373105.1_Missense_Mutation_p.R126G|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	290						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GAGATTTGAACGGCTGAGGTT	0.448																																																0													36	37	37					X																	90691444		2203	4300	6503	SO:0001583	missense	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.868C>G	X.37:g.90691444C>G	ENSP00000308012:p.Arg290Gly		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277166	0.23307	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.22743	1.99;1.94	4.14	-0.0383	0.13881	.	0.202786	0.42053	D	0.000761	T	0.10637	0.0260	N	0.24115	0.695	0.29705	N	0.839886	P	0.44429	0.835	B	0.31686	0.134	T	0.11036	-1.0604	10	0.87932	D	0	.	11.7213	0.51683	0.5543:0.4457:0.0:0.0	.	290	Q96DU9	PABP5_HUMAN	G	126;290;258	ENSP00000362197:R126G;ENSP00000308012:R290G	ENSP00000308012:R290G	R	+	1	2	PABPC5	90578100	0.992000	0.36948	0.966000	0.40874	0.997000	0.91878	0.988000	0.29616	-0.127000	0.11661	0.529000	0.55759	CGG		0.448	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		G	90691444	C	G	90691444	3	3	258	1	0	0	0	0	1	0	0	0	11369	527	19	4	870	4	PABPC5	23	90691444	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	20544250	90691444	64579116	89	15505											
SLC9A6	10479	broad.mit.edu	37	X	135080342	135080342	+	Silent	SNP	A	A	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:135080342A>C	ENST00000370698.3	+	3	540	c.505A>C	c.(505-507)Agg>Cgg	p.R169R	SLC9A6_ENST00000370695.4_Silent_p.R201R|SLC9A6_ENST00000370701.1_Silent_p.R149R	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	169					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TAGCCTGAAAAGGGTAAGTCC	0.313																																																0													64	65	65					X																	135080342		2203	4295	6498	SO:0001819	synonymous_variant	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.505A>C	X.37:g.135080342A>C			A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	ENST00000370698.3	37	CCDS14654.1																																																																																				0.313	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		C	135080342	A	C	135080342	2	2	258	1	0	0	0	0	0	0	0	1	14724	63	3	5		5	SLC9A6	23	135080342	Silent	SNP	A	TCGA-B4-5832-01A-11D-1669-08	44388898	135080342	20190218	90	15506											
SLITRK2	84631	broad.mit.edu	37	X	144904214	144904214	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:144904214C>T	ENST00000370490.1	+	1	4526	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F	SLITRK2_ENST00000447897.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.L91F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	91					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGCGGTGACTCTTCACCTAGG	0.463																																																0													85	77	80					X																	144904214		2203	4300	6503	SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.271C>T	X.37:g.144904214C>T	ENSP00000359521:p.Leu91Phe		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704591	0.88924	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000001	D	0.92004	0.7467	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94017	0.7289	10	0.87932	D	0	-7.231	14.8435	0.70243	0.0:1.0:0.0:0.0	.	91	Q9H156	SLIK2_HUMAN	F	91	ENSP00000334374:L91F;ENSP00000411681:L91F;ENSP00000359521:L91F;ENSP00000397015:L91F;ENSP00000407347:L91F;ENSP00000412010:L91F	ENSP00000334374:L91F	L	+	1	0	SLITRK2	144711906	0.991000	0.36638	0.992000	0.48379	0.863000	0.49368	2.689000	0.46993	2.087000	0.62958	0.600000	0.82982	CTT		0.463	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		T	144904214	C	T	144904214	3	4	258	1	0	0	0	0	1	0	0	0	14749	913	32	2	273	2	SLITRK2	23	144904214	Missense_Mutation	SNP	C	TCGA-B4-5832-01A-11D-1669-08	9823872	144904214	10366346	91	15507											
YARS	8565	broad.mit.edu	37	1	33252023	33252023	+	Silent	SNP	T	T	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:33252023T>C	ENST00000373477.4	-	8	1754	c.846A>G	c.(844-846)aaA>aaG	p.K282K		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	282					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCCACCCCATTTCTCATCTC	0.428																																																0													180	144	157					1																	33252023		2203	4300	6503	SO:0001819	synonymous_variant	8565			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.846A>G	1.37:g.33252023T>C			B3KWK4|D3DPQ4|O43276|Q53EN1	Silent	SNP	ENST00000373477.4	37	CCDS368.1																																																																																				0.428	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		C	33252023	T	C	33252023	2	2	259	1	0	0	0	0	0	0	0	1	17472	1490	52	3		3	YARS	1	33252023	Silent	SNP	T	TCGA-B4-5834-01A-11D-1669-08		33252023	215998598	1	15508											
DMAP1	55929	broad.mit.edu	37	1	44685108	44685108	+	Missense_Mutation	SNP	C	C	A	rs369461221		TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:44685108C>A	ENST00000372289.2	+	7	1200	c.937C>A	c.(937-939)Cca>Aca	p.P313T	DMAP1_ENST00000315913.5_Missense_Mutation_p.P313T|DMAP1_ENST00000361745.6_Missense_Mutation_p.P313T|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	313					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CATCAAGTTTCCAGACTTCAA	0.577																																																0													91	77	82					1																	44685108		2203	4300	6503	SO:0001583	missense	55929			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.937C>A	1.37:g.44685108C>A	ENSP00000361363:p.Pro313Thr		A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	CCDS509.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331032	0.81690	.	.	ENSG00000178028	ENST00000361745;ENST00000315913;ENST00000372289	.	.	.	4.33	4.33	0.51752	DNA methyltransferase 1-associated 1 (2);	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	M	0.66939	2.045	0.80722	D	1	P;D	0.54397	0.941;0.966	P;P	0.56343	0.723;0.796	T	0.67534	-0.5646	9	0.16420	T	0.52	-17.1501	17.3607	0.87349	0.0:1.0:0.0:0.0	.	303;313	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	T	313	.	ENSP00000312697:P313T	P	+	1	0	DMAP1	44457695	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.286000	0.78671	2.420000	0.82092	0.491000	0.48974	CCA		0.577	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		A	44685108	C	A	44685108	3	1	259	1	0	0	0	0	1	0	0	0	4578	855	30	4	963	4	DMAP1	1	44685108	Missense_Mutation	SNP	C	TCGA-B4-5834-01A-11D-1669-08	11433085	44685108	204565513	2	15509											
SLC16A1	6566	broad.mit.edu	37	1	113460112	113460112	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:113460112C>T	ENST00000538576.1	-	4	1747	c.916G>A	c.(916-918)Gct>Act	p.A306T	SLC16A1_ENST00000369626.3_Missense_Mutation_p.A306T|SLC16A1_ENST00000433570.4_Missense_Mutation_p.A306T	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	306					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TCAACAAAAGCCAGAATGGAA	0.433																																																0													60	58	58					1																	113460112		2203	4300	6503	SO:0001583	missense	6566			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.916G>A	1.37:g.113460112C>T	ENSP00000441065:p.Ala306Thr		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	CCDS858.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850135	0.91277	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.56	4.63	0.57726	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.93420	3.415	0.80722	D	1	D;D	0.59357	0.985;0.973	D;D	0.65233	0.911;0.933	D	0.92909	0.6346	10	0.87932	D	0	.	15.5969	0.76590	0.1389:0.8611:0.0:0.0	.	306;306	Q49A45;P53985	.;MOT1_HUMAN	T	306	ENSP00000358640:A306T;ENSP00000441065:A306T;ENSP00000416167:A306T;ENSP00000445061:A306T	ENSP00000358640:A306T	A	-	1	0	SLC16A1	113261635	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.767000	0.85331	1.438000	0.47492	0.563000	0.77884	GCT		0.433	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		T	113460112	C	T	113460112	3	4	259	1	0	0	0	0	1	0	0	0	14408	739	26	2	594	2	SLC16A1	1	113460112	Missense_Mutation	SNP	C	TCGA-B4-5834-01A-11D-1669-08	68775004	113460112	135790509	3	15510											
ATP1A1	476	broad.mit.edu	37	1	116937892	116937892	+	Silent	SNP	A	A	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:116937892A>T	ENST00000295598.5	+	13	2073	c.1821A>T	c.(1819-1821)cgA>cgT	p.R607R	ATP1A1_ENST00000537345.1_Silent_p.R607R|ATP1A1_ENST00000369496.4_Silent_p.R576R	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	607					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GCAAATGTCGAAGTGCTGGAA	0.522																																																0													105	98	100					1																	116937892		2203	4300	6503	SO:0001819	synonymous_variant	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1821A>T	1.37:g.116937892A>T			B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	CCDS887.1																																																																																				0.522	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		T	116937892	A	T	116937892	2	4	259	1	0	0	0	0	0	0	0	1	1128	233	9	5		5	ATP1A1	1	116937892	Silent	SNP	A	TCGA-B4-5834-01A-11D-1669-08	3477780	116937892	132312729	4	15511											
DDR2	4921	broad.mit.edu	37	1	162740113	162740113	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:162740113G>A	ENST00000367922.3	+	13	1753	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	DDR2_ENST00000367921.3_Missense_Mutation_p.D439N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	439					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GATGCTGGATGATGAAATGAC	0.478																																					NSCLC(161;314 2006 8283 19651 23192)											0													222	200	207					1																	162740113		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1315G>A	1.37:g.162740113G>A	ENSP00000356899:p.Asp439Asn		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512363	0.96402	.	.	ENSG00000162733	ENST00000367922;ENST00000367921;ENST00000458105	T;T;T	0.75260	-0.92;-0.92;-0.92	5.79	5.79	0.91817	.	0.044796	0.85682	D	0.000000	T	0.71264	0.3319	M	0.67953	2.075	0.38270	D	0.942131	P	0.49358	0.923	P	0.47470	0.548	T	0.68629	-0.5358	9	0.23891	T	0.37	.	18.6038	0.91259	0.0:0.0:1.0:0.0	.	439	Q16832	DDR2_HUMAN	N	439;439;49	ENSP00000356899:D439N;ENSP00000356898:D439N;ENSP00000417030:D49N	ENSP00000356898:D439N	D	+	1	0	DDR2	161006737	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.338000	0.96553	2.733000	0.93635	0.655000	0.94253	GAT		0.478	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		A	162740113	G	A	162740113	3	1	259	1	0	0	0	0	1	0	0	0	4339	1290	45	2	1353	2	DDR2	1	162740113	Missense_Mutation	SNP	G	TCGA-B4-5834-01A-11D-1669-08	45802221	162740113	86510508	5	15512											
SLC41A1	254428	broad.mit.edu	37	1	205767924	205767924	+	Silent	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr1:205767924G>A	ENST00000367137.3	-	6	1731	c.717C>T	c.(715-717)gtC>gtT	p.V239V	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	239					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGCCAATGATGACTCCAATCA	0.537																																																0													96	93	94					1																	205767924		2203	4300	6503	SO:0001819	synonymous_variant	254428			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.717C>T	1.37:g.205767924G>A			Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	ENST00000367137.3	37	CCDS30988.1																																																																																				0.537	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			A	205767924	G	A	205767924	2	1	259	1	0	0	0	0	0	0	0	1	14635	1277	45	2		2	SLC41A1	1	205767924	Silent	SNP	G	TCGA-B4-5834-01A-11D-1669-08	43027811	205767924	43482697	6	15513											
LRP2	4036	broad.mit.edu	37	2	170062051	170062051	+	Silent	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr2:170062051G>A	ENST00000263816.3	-	41	7938	c.7653C>T	c.(7651-7653)gtC>gtT	p.V2551V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2551					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CACTGGGCATGACCAGACTGC	0.512																																																0													122	112	116					2																	170062051		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7653C>T	2.37:g.170062051G>A			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170062051	G	A	170062051	2	1	259	1	0	0	0	0	0	0	0	1	8958	1277	45	2		2	LRP2	2	170062051	Silent	SNP	G	TCGA-B4-5834-01A-11D-1669-08		170062051	73137322	7	15514											
KIAA1715	80856	broad.mit.edu	37	2	176835534	176835534	+	Splice_Site	SNP	T	T	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr2:176835534T>C	ENST00000272748.4	-	6	564		c.e6-2		KIAA1715_ENST00000544803.1_Splice_Site|KIAA1715_ENST00000535310.1_Splice_Site	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715						blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ATGCTTCATCTAGAAAGCAAG	0.234																																																0													11	12	12					2																	176835534		2059	4177	6236	SO:0001630	splice_region_variant	80856			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.317-2A>G	2.37:g.176835534T>C			B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Splice_Site	SNP	ENST00000272748.4	37	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842033	0.71488	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000544803;ENST00000535310;ENST00000392540	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8668	0.57944	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1715	176543780	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.332000	0.65911	1.983000	0.57843	0.482000	0.46254	.		0.234	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834	Intron	C	176835534	T	C	176835534	5	2	259	1	0	0	0	0	0	0	1	0	8256	1536	53	3	1003	3	KIAA1715	2	176835534	Splice_Site	SNP	T	TCGA-B4-5834-01A-11D-1669-08	6773483	176835534	66363839	8	15515											
LRRC2	79442	broad.mit.edu	37	3	46563140	46563140	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr3:46563140C>T	ENST00000395905.3	-	8	1330	c.938G>A	c.(937-939)aGc>aAc	p.S313N	LRRC2_ENST00000296144.3_Missense_Mutation_p.S313N	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	313										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GTCCATAAGGCTTACAAATCT	0.358																																																0													102	99	100					3																	46563140		2203	4300	6503	SO:0001583	missense	79442			AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.938G>A	3.37:g.46563140C>T	ENSP00000379241:p.Ser313Asn		B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	2.103	-0.405698	0.04832	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.23754	1.89;1.89	4.36	2.56	0.30785	.	0.308893	0.31507	N	0.007531	T	0.13970	0.0338	N	0.25332	0.735	0.25671	N	0.985898	B	0.06786	0.001	B	0.08055	0.003	T	0.25363	-1.0134	10	0.17832	T	0.49	.	6.1799	0.20465	0.0:0.6879:0.0:0.3121	.	313	Q9BYS8	LRRC2_HUMAN	N	313	ENSP00000379241:S313N;ENSP00000296144:S313N	ENSP00000296144:S313N	S	-	2	0	LRRC2	46538144	1.000000	0.71417	0.976000	0.42696	0.974000	0.67602	1.131000	0.31406	0.589000	0.29677	0.591000	0.81541	AGC		0.358	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			T	46563140	C	T	46563140	3	4	259	1	0	0	0	0	1	0	0	0	8978	797	28	2	185	2	LRRC2	3	46563140	Missense_Mutation	SNP	C	TCGA-B4-5834-01A-11D-1669-08		46563140	151459290	9	15516											
IGSF10	285313	broad.mit.edu	37	3	151166433	151166433	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr3:151166433T>A	ENST00000282466.3	-	4	1335	c.1336A>T	c.(1336-1338)Agt>Tgt	p.S446C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	446					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTAATGTACTGAATGTGGTG	0.423																																																0													150	135	140					3																	151166433		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1336A>T	3.37:g.151166433T>A	ENSP00000282466:p.Ser446Cys		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246405	0.59103	.	.	ENSG00000152580	ENST00000282466	T	0.71817	-0.6	5.08	1.42	0.22433	.	0.111999	0.39407	N	0.001369	T	0.76709	0.4025	M	0.73598	2.24	0.31659	N	0.645843	D	0.69078	0.997	P	0.57283	0.817	T	0.77373	-0.2612	10	0.62326	D	0.03	.	8.5883	0.33670	0.0:0.2227:0.0:0.7773	.	446	Q6WRI0	IGS10_HUMAN	C	446	ENSP00000282466:S446C	ENSP00000282466:S446C	S	-	1	0	IGSF10	152649123	0.998000	0.40836	0.734000	0.30879	0.942000	0.58702	1.252000	0.32874	0.018000	0.15052	0.454000	0.30748	AGT		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		A	151166433	T	A	151166433	3	1	259	1	0	0	0	0	1	0	0	0	7599	1580	55	5	6595	5	IGSF10	3	151166433	Missense_Mutation	SNP	T	TCGA-B4-5834-01A-11D-1669-08	104603293	151166433	46855997	10	15517											
SDAD1	55153	broad.mit.edu	37	4	76882456	76882456	+	Missense_Mutation	SNP	T	T	C	rs369140120		TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr4:76882456T>C	ENST00000356260.5	-	15	1305	c.1187A>G	c.(1186-1188)aAt>aGt	p.N396S	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.N359S	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	396				N -> S (in Ref. 1; CAH18368). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTATAGCATTGATTCTAGA	0.368																																																0								T	SER/ASN	0,4406		0,0,2203	89	85	86		1187	5.2	1	4		86	3,8597	2.2+/-6.3	0,3,4297	no	missense	SDAD1	NM_018115.2	46	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	probably-damaging	396/688	76882456	3,13003	2203	4300	6503	SO:0001583	missense	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1187A>G	4.37:g.76882456T>C	ENSP00000348596:p.Asn396Ser		Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342451	0.81911	0.0	3.49E-4	ENSG00000198301	ENST00000356260;ENST00000395711	T;D	0.85629	2.73;-2.01	5.24	5.24	0.73138	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94039	0.8090	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.95073	0.8206	10	0.62326	D	0.03	-29.1375	13.4081	0.60926	0.0:0.0:0.0:1.0	.	359;396	E7EW05;Q9NVU7	.;SDA1_HUMAN	S	396;359	ENSP00000348596:N396S;ENSP00000379061:N359S	ENSP00000348596:N396S	N	-	2	0	SDAD1	77101480	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.393000	0.79851	2.330000	0.79161	0.528000	0.53228	AAT		0.368	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		C	76882456	T	C	76882456	3	2	259	1	0	0	0	0	1	0	0	0	13956	1493	52	3	908	3	SDAD1	4	76882456	Missense_Mutation	SNP	T	TCGA-B4-5834-01A-11D-1669-08		76882456	114271820	11	15518											
SLC39A7	7922	broad.mit.edu	37	6	33170811	33170811	+	Silent	SNP	C	C	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr6:33170811C>T	ENST00000374677.3	+	6	1438	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	RXRB_ENST00000413614.2_5'Flank|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.V355V	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	355					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CAATGACTGTCCTGCTACATG	0.562																																																0													219	253	241					6																	33170811		1389	2612	4001	SO:0001819	synonymous_variant	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1065C>T	6.37:g.33170811C>T			B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	CCDS43453.1																																																																																				0.562	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		T	33170811	C	T	33170811	2	4	259	1	0	0	0	0	0	0	0	1	14629	842	30	2		2	SLC39A7	6	33170811	Silent	SNP	C	TCGA-B4-5834-01A-11D-1669-08		33170811	137944256	12	15519											
UTRN	7402	broad.mit.edu	37	6	144844257	144844257	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr6:144844257A>T	ENST00000367545.3	+	40	5839	c.5839A>T	c.(5839-5841)Aga>Tga	p.R1947*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1947					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CATTCAGATCAGAGATACACT	0.378																																																0													91	86	87					6																	144844257		2203	4300	6503	SO:0001587	stop_gained	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5839A>T	6.37:g.144844257A>T	ENSP00000356515:p.Arg1947*		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	46	12.720965	0.99691	.	.	ENSG00000152818	ENST00000367545	.	.	.	5.65	1.39	0.22231	.	0.364495	0.23610	N	0.046351	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6714	0.17725	0.2547:0.4152:0.3301:0.0	.	.	.	.	X	1947	.	ENSP00000356515:R1947X	R	+	1	2	UTRN	144885950	1.000000	0.71417	0.975000	0.42487	0.832000	0.47134	4.256000	0.58810	-0.057000	0.13199	0.482000	0.46254	AGA		0.378	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			T	144844257	A	T	144844257	4	4	259	1	0	0	0	0	0	1	0	0	17108	180	7	5	5997	5	UTRN	6	144844257	Nonsense_Mutation	SNP	A	TCGA-B4-5834-01A-11D-1669-08	111673446	144844257	26270810	13	15520											
PMS2	5395	broad.mit.edu	37	7	6042153	6042153	+	Silent	SNP	T	T	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr7:6042153T>A	ENST00000265849.7	-	5	573	c.468A>T	c.(466-468)acA>acT	p.T156T	PMS2_ENST00000382321.4_Silent_p.T156T|PMS2_ENST00000441476.2_Silent_p.T50T|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.T156T|Y_RNA_ENST00000365120.1_RNA	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	156					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GCACGCTGACTGTGGTCCCTC	0.468			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													77	87	84					7																	6042153		2203	4300	6503	SO:0001819	synonymous_variant	5395	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		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.468A>T	7.37:g.6042153T>A			B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																				0.468	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		A	6042153	T	A	6042153	2	1	259	1	0	0	0	0	0	0	0	1	12145	1567	55	5		5	PMS2	7	6042153	Silent	SNP	T	TCGA-B4-5834-01A-11D-1669-08		6042153	153096510	14	15521											
CCDC129	223075	broad.mit.edu	37	7	31682489	31682489	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr7:31682489T>C	ENST00000407970.3	+	11	1543	c.1505T>C	c.(1504-1506)aTg>aCg	p.M502T	CCDC129_ENST00000409210.1_Missense_Mutation_p.M410T|CCDC129_ENST00000451887.2_Missense_Mutation_p.M528T|CCDC129_ENST00000319386.3_Missense_Mutation_p.M354T	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	502										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTATCTGTGATGGAGGAAGAG	0.542																																																0													110	109	110					7																	31682489		2203	4300	6503	SO:0001583	missense	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1505T>C	7.37:g.31682489T>C	ENSP00000384416:p.Met502Thr		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	T	10.69	1.419811	0.25552	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.17691	2.26;2.53;2.52;2.27	5.85	-6.23	0.02052	.	1.066740	0.07295	N	0.873137	T	0.05960	0.0155	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.22800	0.075;0.001;0.001;0.018	B;B;B;B	0.18871	0.023;0.001;0.001;0.014	T	0.39881	-0.9592	10	0.15066	T	0.55	0.1349	0.5489	0.00659	0.4019:0.1489:0.2179:0.2313	.	528;512;502;354	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	T	354;502;528;512;410	ENSP00000313062:M354T;ENSP00000384416:M502T;ENSP00000395835:M528T;ENSP00000387214:M410T	ENSP00000313062:M354T	M	+	2	0	CCDC129	31649014	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.861000	0.04268	-0.737000	0.04824	0.477000	0.44152	ATG		0.542	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		C	31682489	T	C	31682489	3	2	259	1	0	0	0	0	1	0	0	0	2766	1464	51	3	1543	3	CCDC129	7	31682489	Missense_Mutation	SNP	T	TCGA-B4-5834-01A-11D-1669-08	25640336	31682489	127456174	15	15522											
FOXD4	2298	broad.mit.edu	37	9	117355	117355	+	Silent	SNP	A	A	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr9:117355A>G	ENST00000382500.2	-	1	1062	c.765T>C	c.(763-765)ccT>ccC	p.P255P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	255	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCAGAGCGTAAGGGCGTCTCC	0.736																																																0													11	21	18					9																	117355		1361	2880	4241	SO:0001819	synonymous_variant	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.765T>C	9.37:g.117355A>G			B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	CCDS34975.1																																																																																				0.736	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		G	117355	A	G	117355	2	3	259	1	0	0	0	0	0	0	0	1	6001	59	3	3		3	FOXD4	9	117355	Silent	SNP	A	TCGA-B4-5834-01A-11D-1669-08		117355	141096076	16	15523											
NDOR1	27158	broad.mit.edu	37	9	140110192	140110192	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr9:140110192G>A	ENST00000344894.5	+	11	1453	c.1370G>A	c.(1369-1371)gGg>gAg	p.G457E	NDOR1_ENST00000458322.2_Missense_Mutation_p.G450E|NDOR1_ENST00000371521.4_Missense_Mutation_p.G457E|NDOR1_ENST00000427047.2_Missense_Mutation_p.G423E	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ATCATGGTGGGGCCTGGCACT	0.667																																																0													39	44	42					9																	140110192		2202	4300	6502	SO:0001583	missense	27158			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1370G>A	9.37:g.140110192G>A	ENSP00000343344:p.Gly457Glu			Missense_Mutation	SNP	ENST00000344894.5	37	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713967	0.68730	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	D;D;D;D	0.88201	-1.69;-2.35;-1.69;-1.69	4.68	4.68	0.58851	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.054814	0.64402	D	0.000001	D	0.97077	0.9045	H	0.99582	4.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98750	1.0720	10	0.87932	D	0	-10.1613	15.0955	0.72232	0.0:0.0:1.0:0.0	.	450;423;457;457	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	E	450;423;457;457	ENSP00000389905:G450E;ENSP00000394309:G423E;ENSP00000360576:G457E;ENSP00000343344:G457E	ENSP00000343344:G457E	G	+	2	0	NDOR1	139230013	1.000000	0.71417	0.968000	0.41197	0.231000	0.25187	5.004000	0.63966	2.153000	0.67306	0.561000	0.74099	GGG		0.667	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		A	140110192	G	A	140110192	3	1	259	1	0	0	0	0	1	0	0	0	10251	1232	43	2	1412	2	NDOR1	9	140110192	Missense_Mutation	SNP	G	TCGA-B4-5834-01A-11D-1669-08	139992837	140110192	1103239	17	15524											
ANK3	288	broad.mit.edu	37	10	61832058	61832058	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr10:61832058T>G	ENST00000280772.2	-	37	8772	c.8581A>C	c.(8581-8583)Act>Cct	p.T2861P	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2861					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTATTGTTAGTGGCTCCCGAA	0.413																																																0													72	78	76					10																	61832058		2201	4299	6500	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8581A>C	10.37:g.61832058T>G	ENSP00000280772:p.Thr2861Pro		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	8.895	0.954920	0.18431	.	.	ENSG00000151150	ENST00000280772	T	0.63913	-0.07	5.73	0.53	0.17102	.	0.904110	0.09150	N	0.841741	T	0.37625	0.1010	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29119	-1.0022	10	0.30078	T	0.28	.	1.7119	0.02893	0.1448:0.2157:0.1067:0.5328	.	2861	Q12955	ANK3_HUMAN	P	2861	ENSP00000280772:T2861P	ENSP00000280772:T2861P	T	-	1	0	ANK3	61502064	0.137000	0.22531	0.995000	0.50966	0.989000	0.77384	0.000000	0.12993	0.118000	0.18165	0.454000	0.30748	ACT		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		G	61832058	T	G	61832058	3	3	259	1	0	0	0	0	1	0	0	0	622	1696	59	5	4893	5	ANK3	10	61832058	Missense_Mutation	SNP	T	TCGA-B4-5834-01A-11D-1669-08		61832058	73702689	18	15525											
OR8B3	390271	broad.mit.edu	37	11	124266451	124266451	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr11:124266451G>A	ENST00000354597.3	-	1	813	c.797C>T	c.(796-798)tCt>tTt	p.S266F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTGCTCCATAGATCCAGAAGA	0.408																																																0													44	50	48					11																	124266451		2199	4295	6494	SO:0001583	missense	390271			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.797C>T	11.37:g.124266451G>A	ENSP00000346611:p.Ser266Phe		Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	6.483	0.457206	0.12342	.	.	ENSG00000196661	ENST00000354597	T	0.00245	8.45	3.76	0.756	0.18421	GPCR, rhodopsin-like superfamily (1);	0.107328	0.42420	D	0.000706	T	0.00210	0.0006	L	0.49513	1.565	0.09310	N	1	P	0.35872	0.525	B	0.44163	0.443	T	0.33369	-0.9871	10	0.72032	D	0.01	.	6.3666	0.21457	0.1718:0.154:0.6742:0.0	.	266	Q8NGG8	OR8B3_HUMAN	F	266	ENSP00000346611:S266F	ENSP00000346611:S266F	S	-	2	0	OR8B3	123771661	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.293000	0.08320	0.167000	0.19631	0.650000	0.86243	TCT		0.408	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		A	124266451	G	A	124266451	3	1	259	1	0	0	0	0	1	0	0	0	11230	942	33	2	146	2	OR8B3	11	124266451	Missense_Mutation	SNP	G	TCGA-B4-5834-01A-11D-1669-08		124266451	10740065	19	15526											
KCNJ1	3758	broad.mit.edu	37	11	128709679	128709679	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr11:128709679A>C	ENST00000392664.2	-	2	633	c.517T>G	c.(517-519)Ttc>Gtc	p.F173V	KCNJ1_ENST00000324036.3_Missense_Mutation_p.F154V|KCNJ1_ENST00000392665.2_Missense_Mutation_p.F154V|KCNJ1_ENST00000440599.2_Missense_Mutation_p.F154V|KCNJ1_ENST00000392666.1_Missense_Mutation_p.F154V	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	173					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	CCACACATGAAAGAATTGATT	0.453																																																0													74	74	74					11																	128709679		2201	4297	6498	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.517T>G	11.37:g.128709679A>C	ENSP00000376432:p.Phe173Val		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289669	0.80914	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.98	5.98	0.97165	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97201	0.9864	10	0.56958	D	0.05	.	16.4684	0.84092	1.0:0.0:0.0:0.0	.	173	P48048	IRK1_HUMAN	V	154;154;154;154;173	ENSP00000376433:F154V;ENSP00000376434:F154V;ENSP00000406320:F154V;ENSP00000316233:F154V;ENSP00000376432:F173V	ENSP00000316233:F154V	F	-	1	0	KCNJ1	128214889	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	9.339000	0.96797	2.289000	0.77006	0.460000	0.39030	TTC		0.453	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		C	128709679	A	C	128709679	3	2	259	1	0	0	0	0	1	0	0	0	8045	14	1	5	662	5	KCNJ1	11	128709679	Missense_Mutation	SNP	A	TCGA-B4-5834-01A-11D-1669-08	4443228	128709679	6296837	20	15527											
BCL7A	605	broad.mit.edu	37	12	122481898	122481898	+	Silent	SNP	C	C	T	rs111620654	byFrequency	TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr12:122481898C>T	ENST00000261822.4	+	4	584	c.378C>T	c.(376-378)gaC>gaT	p.D126D	BCL7A_ENST00000538010.1_Silent_p.D126D	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	126					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		TGCCCAGCGACGGCACCGAGG	0.642			T	MYC	BNHL								c|||	2	0.000399361	0.0	0.0	5008	,	,		17541	0.0		0.002	False		,,,				2504	0.0				GBM(17;197 467 16477 23242 44349)		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	0								T	,	4,4402	8.1+/-20.4	0,4,2199	120	101	108		378,378	-10.7	0	12	dbSNP_132	108	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous,coding-synonymous	BCL7A	NM_001024808.1,NM_020993.3	,	0,12,6491	TT,TC,CC		0.093,0.0908,0.0923	,	126/211,126/232	122481898	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	605			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.378C>T	12.37:g.122481898C>T			B4DJN6|B7ZB21|Q13843|Q14CT7	Silent	SNP	ENST00000261822.4	37	CCDS53841.1																																																																																				0.642	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			T	122481898	C	T	122481898	2	4	259	1	0	0	0	0	0	0	0	1	1378	535	19	1		1	BCL7A	12	122481898	Silent	SNP	C	TCGA-B4-5834-01A-11D-1669-08		122481898	11369997	21	15528											
DDX55	57696	broad.mit.edu	37	12	124094530	124094530	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr12:124094530G>A	ENST00000238146.4	+	7	646	c.596G>A	c.(595-597)gGc>gAc	p.G199D	DDX55_ENST00000538744.1_Missense_Mutation_p.G199D	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	199	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AGGAGAACAGGCCTTTTCTCT	0.547																																																0													78	76	76					12																	124094530		2203	4300	6503	SO:0001583	missense	57696			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.596G>A	12.37:g.124094530G>A	ENSP00000238146:p.Gly199Asp		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459585	0.96240	.	.	ENSG00000111364	ENST00000238146;ENST00000538449;ENST00000538744	T;T	0.15017	2.46;2.46	5.98	5.98	0.97165	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.997;1.0	T	0.54846	-0.8232	10	0.72032	D	0.01	-28.0796	20.4366	0.99092	0.0:0.0:1.0:0.0	.	199;199;199	B4DVE4;Q8NHQ9;F5H5U2	.;DDX55_HUMAN;.	D	199	ENSP00000238146:G199D;ENSP00000443114:G199D	ENSP00000238146:G199D	G	+	2	0	DDX55	122660483	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.869000	0.99810	2.843000	0.97960	0.585000	0.79938	GGC		0.547	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			A	124094530	G	A	124094530	3	1	259	1	0	0	0	0	1	0	0	0	4375	1203	42	2	622	2	DDX55	12	124094530	Missense_Mutation	SNP	G	TCGA-B4-5834-01A-11D-1669-08	1612632	124094530	9757365	22	15529											
PLEKHG3	26030	broad.mit.edu	37	14	65210037	65210037	+	Silent	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr14:65210037G>A	ENST00000394691.1	+	17	3423	c.3276G>A	c.(3274-3276)tcG>tcA	p.S1092S	PLEKHG3_ENST00000471182.2_Silent_p.S625S|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Silent_p.S1036S|PLEKHG3_ENST00000484731.2_Silent_p.S597S			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1092							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CACCTCTGTCGGGCAGGGTGG	0.736																																																0													14	19	17					14																	65210037		2193	4286	6479	SO:0001819	synonymous_variant	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3276G>A	14.37:g.65210037G>A			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37																																																																																					0.736	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		A	65210037	G	A	65210037	2	1	259	1	0	0	0	0	0	0	0	1	12072	1103	39	1		1	PLEKHG3	14	65210037	Silent	SNP	G	TCGA-B4-5834-01A-11D-1669-08		65210037	42139503	23	15530											
MOAP1	64112	broad.mit.edu	37	14	93650300	93650301	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr14:93650300_93650301insG	ENST00000556883.1	-	2	771_772	c.287_288insC	c.(286-288)cctfs	p.P96fs	TMEM251_ENST00000415050.2_5'Flank|MOAP1_ENST00000298894.4_Frame_Shift_Ins_p.P96fs|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	96					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tatctgggtcagggggcttaaa	0.475																																																0																																										SO:0001589	frameshift_variant	64112			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.288dupC	14.37:g.93650305_93650305dupG	ENSP00000451594:p.Pro96fs		B2RDF6|Q9H833|Q9HAS1	Frame_Shift_Ins	INS	ENST00000556883.1	37	CCDS9908.1																																																																																				0.475	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			G	93650301	-	G	93650300	7	5	259	1	0	1	1	0	0	0	0	0	9682	175	7	0	771	0	MOAP1	14	93650300	Frame_Shift_Ins	INS	-	TCGA-B4-5834-01A-11D-1669-08	28440263	93650300	13699240	24	15531											
C14orf49	161176	broad.mit.edu	37	14	95910939	95910939	+	Silent	SNP	A	A	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr14:95910939A>G	ENST00000334258.5	-	9	1673	c.1659T>C	c.(1657-1659)ttT>ttC	p.F553F	SYNE3_ENST00000553340.1_Silent_p.F553F|SYNE3_ENST00000557275.1_Silent_p.F553F|SYNE3_ENST00000554873.1_Silent_p.F310F	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	553					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						AAGCTGCTCCAAAGTCTTTGT	0.582																																																0													52	51	51					14																	95910939		2203	4300	6503	SO:0001819	synonymous_variant	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1659T>C	14.37:g.95910939A>G			A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	CCDS9935.1																																																																																				0.582	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		G	95910939	A	G	95910939	2	3	259	1	0	0	0	0	0	0	0	1	1778	127	5	3		3	C14orf49	14	95910939	Silent	SNP	A	TCGA-B4-5834-01A-11D-1669-08	2260639	95910939	11438601	25	15532											
C15orf23	90417	broad.mit.edu	37	15	40682113	40682113	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr15:40682113G>T	ENST00000249776.8	+	6	783	c.668G>T	c.(667-669)aGc>aTc	p.S223I	KNSTRN_ENST00000448395.2_Missense_Mutation_p.S223I|KNSTRN_ENST00000416151.2_Missense_Mutation_p.S223I|KNSTRN_ENST00000608100.1_Missense_Mutation_p.S145I	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		ATTTTGGAGAGCAAGGGCCTT	0.532																																																0													122	128	126					15																	40682113		2030	4190	6220	SO:0001583	missense	90417			AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"small kinetochore-associated protein", "kinetochore-localized astrin-binding protein", "TRAF4 associated factor 1"	614718	"chromosome 15 open reading frame 23"	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.668G>T	15.37:g.40682113G>T	ENSP00000249776:p.Ser223Ile			Missense_Mutation	SNP	ENST00000249776.8	37	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017266	0.75161	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.40756	1.02;1.02;1.02	5.21	5.21	0.72293	.	0.253510	0.41823	D	0.000815	T	0.53351	0.1791	L	0.34521	1.04	0.39784	D	0.972338	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.56986	-0.7888	10	0.87932	D	0	-4.856	14.1201	0.65182	0.0:0.0:1.0:0.0	.	223;223;223	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	I	223	ENSP00000249776:S223I;ENSP00000391233:S223I;ENSP00000393001:S223I	ENSP00000249776:S223I	S	+	2	0	C15orf23	38469405	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.303000	0.51858	2.696000	0.92011	0.655000	0.94253	AGC		0.532	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		T	40682113	G	T	40682113	3	4	259	1	0	0	0	0	1	0	0	0	1787	971	34	4	690	4	C15orf23	15	40682113	Missense_Mutation	SNP	G	TCGA-B4-5834-01A-11D-1669-08		40682113	61849279	26	15533											
RUNDC2A	92017	broad.mit.edu	37	16	12145807	12145807	+	Missense_Mutation	SNP	G	G	T	rs140388401		TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr16:12145807G>T	ENST00000566228.1	+	8	921	c.852G>T	c.(850-852)aaG>aaT	p.K284N	SNX29_ENST00000306030.3_5'Flank|SNX29_ENST00000323433.4_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	284						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGTTTAAAAAGACACCTGGGG	0.483																																																0													73	82	79					16																	12145807		2197	4300	6497	SO:0001583	missense	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.852G>T	16.37:g.12145807G>T	ENSP00000456480:p.Lys284Asn		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228262	0.58777	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.91	4.96	0.65561	.	0.184982	0.47093	D	0.000259	T	0.64538	0.2607	L	0.57536	1.79	0.80722	D	1	.	.	.	.	.	.	T	0.62845	-0.6768	7	0.34782	T	0.22	-12.0985	13.6023	0.62026	0.0746:0.0:0.9254:0.0	.	.	.	.	N	284	.	ENSP00000268271:K284N	K	+	3	2	RUNDC2A	12053308	1.000000	0.71417	0.313000	0.25210	0.289000	0.27227	4.066000	0.57520	1.514000	0.48869	0.462000	0.41574	AAG		0.483	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			T	12145807	G	T	12145807	3	4	259	1	0	0	0	0	1	0	0	0	13749	933	33	4	882	4	RUNDC2A	16	12145807	Missense_Mutation	SNP	G	TCGA-B4-5834-01A-11D-1669-08		12145807	78208946	27	15534											
MYH8	4626	broad.mit.edu	37	17	10321989	10321989	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr17:10321989C>A	ENST00000403437.2	-	5	578	c.484G>T	c.(484-486)Gac>Tac	p.D162Y	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	162	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGGCATTGTCAGAGATGGAG	0.517									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													123	135	131					17																	10321989		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.484G>T	17.37:g.10321989C>A	ENSP00000384330:p.Asp162Tyr		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101155	0.76983	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.89123	-2.47	3.74	3.74	0.42951	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000497	D	0.97031	0.9030	H	0.99444	4.57	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.98997	1.0810	10	0.87932	D	0	.	16.0535	0.80777	0.0:1.0:0.0:0.0	.	162	P13535	MYH8_HUMAN	Y	162	ENSP00000384330:D162Y	ENSP00000252173:D162Y	D	-	1	0	MYH8	10262714	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.518000	0.81795	2.090000	0.63153	0.591000	0.81541	GAC		0.517	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10321989	C	A	10321989	3	1	259	1	0	0	0	0	1	0	0	0	10043	826	29	4	5473	4	MYH8	17	10321989	Missense_Mutation	SNP	C	TCGA-B4-5834-01A-11D-1669-08		10321989	70873221	28	15535											
TOM1L1	10040	broad.mit.edu	37	17	53026926	53026926	+	Silent	SNP	A	A	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr17:53026926A>G	ENST00000575882.1	+	13	1583	c.1230A>G	c.(1228-1230)caA>caG	p.Q410Q	COX11_ENST00000573912.1_5'Flank|TOM1L1_ENST00000445275.2_Silent_p.Q399Q|TOM1L1_ENST00000348161.4_Silent_p.Q333Q|TOM1L1_ENST00000536554.1_Silent_p.Q333Q|TOM1L1_ENST00000540336.1_Silent_p.Q298Q|TOM1L1_ENST00000572158.1_Silent_p.Q403Q	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	410					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTAGTCTACAAACCATTGCAG	0.388																																																0													142	138	140					17																	53026926		2203	4300	6503	SO:0001819	synonymous_variant	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1230A>G	17.37:g.53026926A>G			Q53G06|Q8N749	Silent	SNP	ENST00000575882.1	37	CCDS11582.1																																																																																				0.388	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		G	53026926	A	G	53026926	2	3	259	1	0	0	0	0	0	0	0	1	16357	11	1	3		3	TOM1L1	17	53026926	Silent	SNP	A	TCGA-B4-5834-01A-11D-1669-08	42704937	53026926	28168284	29	15536											
CTDP1	9150	broad.mit.edu	37	18	77477556	77477556	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr18:77477556C>G	ENST00000299543.7	+	9	2237	c.2090C>G	c.(2089-2091)gCa>gGa	p.A697G	CTDP1_ENST00000075430.7_Missense_Mutation_p.A697G	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	697	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GTGCTGCAGGCACAGGAGTGC	0.672																																																0													70	71	71					18																	77477556		2203	4300	6503	SO:0001583	missense	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2090C>G	18.37:g.77477556C>G	ENSP00000299543:p.Ala697Gly		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854708	0.32791	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	D;D	0.97455	-4.39;-4.39	5.09	5.09	0.68999	BRCT (3);	0.051063	0.85682	D	0.000000	D	0.97167	0.9074	M	0.84948	2.725	0.80722	D	1	B;B;B	0.31503	0.119;0.279;0.326	B;B;B	0.38562	0.112;0.181;0.276	D	0.97196	0.9861	10	0.51188	T	0.08	-32.5197	14.9321	0.70923	0.0:0.8565:0.1435:0.0	.	578;697;697	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	G	697	ENSP00000299543:A697G;ENSP00000075430:A697G	ENSP00000075430:A697G	A	+	2	0	CTDP1	75578544	0.999000	0.42202	0.990000	0.47175	0.356000	0.29392	3.886000	0.56190	2.355000	0.79922	0.563000	0.77884	GCA		0.672	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		G	77477556	C	G	77477556	3	3	259	1	0	0	0	0	1	0	0	0	4004	710	25	4	2124	4	CTDP1	18	77477556	Missense_Mutation	SNP	C	TCGA-B4-5834-01A-11D-1669-08		77477556	599692	30	15537											
HOOK2	29911	broad.mit.edu	37	19	12881984	12881984	+	Silent	SNP	C	C	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr19:12881984C>T	ENST00000397668.3	-	9	823	c.750G>A	c.(748-750)gaG>gaA	p.E250E	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Silent_p.E250E	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	250	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGAAGTTCTCCTCCTGCAACT	0.672																																																0													23	29	27					19																	12881984		2045	4207	6252	SO:0001819	synonymous_variant	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.750G>A	19.37:g.12881984C>T			O60562	Silent	SNP	ENST00000397668.3	37	CCDS42508.1																																																																																				0.672	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		T	12881984	C	T	12881984	2	4	259	1	0	0	0	0	0	0	0	1	7285	680	24	2		2	HOOK2	19	12881984	Silent	SNP	C	TCGA-B4-5834-01A-11D-1669-08		12881984	46246999	31	15538											
RFX1	5989	broad.mit.edu	37	19	14088854	14088854	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr19:14088854G>C	ENST00000254325.4	-	8	1113	c.879C>G	c.(877-879)agC>agG	p.S293R		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	293					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ACTGCACCTGGCTGGAGTACA	0.652																																																0													119	108	112					19																	14088854		2203	4300	6503	SO:0001583	missense	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.879C>G	19.37:g.14088854G>C	ENSP00000254325:p.Ser293Arg			Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915064	0.73098	.	.	ENSG00000132005	ENST00000254325	T	0.32272	1.46	4.51	3.47	0.39725	RFX1 transcription activation region (1);	0.414637	0.29152	N	0.012988	T	0.35068	0.0919	L	0.46157	1.445	0.39687	D	0.970997	P	0.37688	0.605	P	0.45712	0.491	T	0.25537	-1.0129	10	0.62326	D	0.03	-20.3219	11.4497	0.50145	0.0904:0.0:0.9096:0.0	.	293	P22670	RFX1_HUMAN	R	293	ENSP00000254325:S293R	ENSP00000254325:S293R	S	-	3	2	RFX1	13949854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.989000	0.49393	0.910000	0.36722	0.555000	0.69702	AGC		0.652	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		C	14088854	G	C	14088854	3	2	259	1	0	0	0	0	1	0	0	0	13268	1194	42	4	2116	4	RFX1	19	14088854	Missense_Mutation	SNP	G	TCGA-B4-5834-01A-11D-1669-08	1206870	14088854	45040129	32	15539											
SFRS14	10147	broad.mit.edu	37	19	19121013	19121013	+	Silent	SNP	G	G	A			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr19:19121013G>A	ENST00000601879.1	-	5	2286	c.1989C>T	c.(1987-1989)taC>taT	p.Y663Y	SUGP2_ENST00000452918.2_Silent_p.Y663Y|SUGP2_ENST00000456085.2_Silent_p.Y432Y|SUGP2_ENST00000600377.1_Silent_p.Y677Y|SUGP2_ENST00000337018.6_Silent_p.Y663Y			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	663					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGCCCGGGAGTACAGCATGG	0.627																																																0													109	110	109					19																	19121013		2203	4300	6503	SO:0001819	synonymous_variant	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1989C>T	19.37:g.19121013G>A			C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	CCDS12392.1																																																																																				0.627	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		A	19121013	G	A	19121013	2	1	259	1	0	0	0	0	0	0	0	1	14176	1024	36	2		2	SFRS14	19	19121013	Silent	SNP	G	TCGA-B4-5834-01A-11D-1669-08	5032159	19121013	40007970	33	15540											
SLC1A5	6510	broad.mit.edu	37	19	47278897	47278897	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr19:47278897A>T	ENST00000542575.2	-	8	2124	c.1496T>A	c.(1495-1497)aTa>aAa	p.I499K	SLC1A5_ENST00000412532.2_Missense_Mutation_p.I271K|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000434726.2_Missense_Mutation_p.I297K|SLC1A5_ENST00000594991.1_Missense_Mutation_p.I323K	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	499					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTTCACTTGTATCAACTCAGG	0.587																																																0													155	143	147					19																	47278897		2203	4300	6503	SO:0001583	missense	6510			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1496T>A	19.37:g.47278897A>T	ENSP00000444408:p.Ile499Lys		A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	-	0.856	-0.736797	0.03111	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.62941	0.75;-0.01;0.0	4.88	1.35	0.21983	.	1.485410	0.03592	N	0.231967	T	0.45915	0.1366	L	0.34521	1.04	0.09310	N	1	B;B;B	0.12013	0.005;0.003;0.003	B;B;B	0.12156	0.004;0.007;0.007	T	0.21177	-1.0253	10	0.06099	T	0.92	-21.1762	4.5038	0.11878	0.5745:0.1648:0.2607:0.0	.	297;499;499	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	K	499;297;271;506	ENSP00000444408:I499K;ENSP00000406532:I297K;ENSP00000397924:I271K	ENSP00000303623:I506K	I	-	2	0	SLC1A5	51970737	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	-0.218000	0.09240	0.318000	0.23185	0.449000	0.29647	ATA		0.587	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			T	47278897	A	T	47278897	3	4	259	1	0	0	0	0	1	0	0	0	14441	449	16	5	133	5	SLC1A5	19	47278897	Missense_Mutation	SNP	A	TCGA-B4-5834-01A-11D-1669-08	28157884	47278897	11850086	34	15541											
ITSN1	6453	broad.mit.edu	37	21	35122607	35122607	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr21:35122607T>C	ENST00000381318.3	+	6	794	c.506T>C	c.(505-507)cTg>cCg	p.L169P	ITSN1_ENST00000399349.1_Missense_Mutation_p.L169P|ITSN1_ENST00000399352.1_Missense_Mutation_p.L169P|ITSN1_ENST00000399338.4_Missense_Mutation_p.L169P|ITSN1_ENST00000381285.4_Missense_Mutation_p.L169P|ITSN1_ENST00000399353.1_Missense_Mutation_p.L132P|ITSN1_ENST00000399367.3_Missense_Mutation_p.L169P|ITSN1_ENST00000381291.4_Missense_Mutation_p.L169P|ITSN1_ENST00000399326.3_Missense_Mutation_p.L169P|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.L169P|ITSN1_ENST00000437442.2_Missense_Mutation_p.L169P|ITSN1_ENST00000379960.5_Missense_Mutation_p.L169P	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	169					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATACAACCTCTGCCTGCATTT	0.453																																																0													97	89	92					21																	35122607		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.506T>C	21.37:g.35122607T>C	ENSP00000370719:p.Leu169Pro		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736867	0.49045	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.51325	1.21;0.71;0.78;0.71;0.82;1.23;0.76;1.11;1.78;0.78;1.8;1.8	5.2	5.2	0.72013	.	0.227223	0.37483	N	0.002068	T	0.65123	0.2661	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.69078	0.995;0.995;0.995;0.995;0.997;0.996;0.995;0.995;0.997;0.995	D;D;D;D;D;P;D;D;D;D	0.78314	0.979;0.979;0.979;0.979;0.991;0.903;0.979;0.979;0.991;0.979	T	0.68735	-0.5330	10	0.87932	D	0	.	15.0871	0.72162	0.0:0.0:0.0:1.0	.	132;132;132;169;169;169;169;169;169;132	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	P	132;169;169;169;169;169;169;169;169;169;169;169;169;169	ENSP00000382290:L132P;ENSP00000370719:L169P;ENSP00000370691:L169P;ENSP00000370685:L169P;ENSP00000382301:L169P;ENSP00000382289:L169P;ENSP00000382292:L169P;ENSP00000382286:L169P;ENSP00000382275:L169P;ENSP00000387377:L169P;ENSP00000382265:L169P;ENSP00000369294:L169P	ENSP00000369294:L169P	L	+	2	0	ITSN1	34044477	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.763000	0.68818	1.953000	0.56701	0.454000	0.30748	CTG		0.453	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		C	35122607	T	C	35122607	3	2	259	1	0	0	0	0	1	0	0	0	7928	1580	55	3	524	3	ITSN1	21	35122607	Missense_Mutation	SNP	T	TCGA-B4-5834-01A-11D-1669-08		35122607	13007288	35	15542											
CCT8L2	150160	broad.mit.edu	37	22	17071901	17071901	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5834-01A-11D-1669-08	TCGA-B4-5834-10A-02D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16c5931c-a751-4e91-a13a-4e8441673119	dff3f173-14b7-4d23-becc-d6436a9e9256	g.chr22:17071901G>T	ENST00000359963.3	-	1	1799	c.1540C>A	c.(1540-1542)Ctc>Atc	p.L514I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	514					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACAGTCACGAGCTGTAGCACC	0.498																																																0													102	95	97					22																	17071901		2203	4297	6500	SO:0001583	missense	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1540C>A	22.37:g.17071901G>T	ENSP00000353048:p.Leu514Ile		A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	4.979	0.181861	0.09495	.	.	ENSG00000198445	ENST00000359963	T	0.11930	2.73	1.98	1.98	0.26296	.	0.000000	0.34223	U	0.004156	T	0.10078	0.0247	L	0.27053	0.805	0.28059	N	0.933057	B	0.27013	0.166	B	0.41236	0.351	T	0.38908	-0.9639	10	0.02654	T	1	-16.4205	7.4423	0.27190	0.0:0.0:1.0:0.0	.	514	Q96SF2	TCPQM_HUMAN	I	514	ENSP00000353048:L514I	ENSP00000353048:L514I	L	-	1	0	CCT8L2	15451901	0.559000	0.26562	0.672000	0.29872	0.393000	0.30537	2.160000	0.42348	1.115000	0.41800	0.379000	0.24179	CTC		0.498	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17071901	G	T	17071901	3	4	259	1	0	0	0	0	1	0	0	0	2963	971	34	4	137	4	CCT8L2	22	17071901	Missense_Mutation	SNP	G	TCGA-B4-5834-01A-11D-1669-08		17071901	34232665	36	15543											
MMEL1	79258	broad.mit.edu	37	1	2530166	2530166	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:2530166C>A	ENST00000378412.3	-	12	1266	c.1105G>T	c.(1105-1107)Gat>Tat	p.D369Y	MMEL1_ENST00000502556.1_Missense_Mutation_p.D212Y|MMEL1_ENST00000288709.6_Missense_Mutation_p.D360Y			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	369						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACTTCCTCATCTGGCAGCAGC	0.512																																																0													132	123	126					1																	2530166		2203	4300	6503	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1105G>T	1.37:g.2530166C>A	ENSP00000367668:p.Asp369Tyr		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100223	0.37048	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.74209	-0.82;-0.82;-0.82	4.82	-7.22	0.01485	Peptidase M13 (1);	0.639056	0.16714	N	0.202526	T	0.79499	0.4456	M	0.79805	2.47	0.09310	N	0.99999	P	0.51933	0.949	P	0.62649	0.905	T	0.73282	-0.4032	10	0.49607	T	0.09	-0.53	9.0327	0.36269	0.0:0.3873:0.0963:0.5164	.	369	Q495T6	MMEL1_HUMAN	Y	212;360;369;212	ENSP00000288709:D360Y;ENSP00000367668:D369Y;ENSP00000422492:D212Y	ENSP00000288709:D360Y	D	-	1	0	MMEL1	2520026	0.000000	0.05858	0.000000	0.03702	0.261000	0.26267	-0.715000	0.04997	-1.171000	0.02765	-0.367000	0.07326	GAT		0.512	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		A	2530166	C	A	2530166	3	1	260	1	0	0	0	0	1	0	0	0	9648	913	32	4	1286	4	MMEL1	1	2530166	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08		2530166	246720455	1	15544											
KIF1B	23095	broad.mit.edu	37	1	10364544	10364544	+	Intron	SNP	T	T	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:10364544T>A	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.C1101S|KIF1B_ENST00000377093.4_Missense_Mutation_p.C1101S|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCAGTCTTACTGTAATTATAA	0.502																																																0													65	61	62					1																	10364544		2203	4300	6503	SO:0001627	intron_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7240T>A	1.37:g.10364544T>A			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	T	6.684	0.494772	0.12702	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.73152	-0.72;-0.72	5.72	5.72	0.89469	.	.	.	.	.	T	0.56352	0.1979	.	.	.	0.80722	D	1	B	0.15473	0.013	B	0.16289	0.015	T	0.52328	-0.8590	8	0.15952	T	0.53	.	13.0626	0.59015	0.0:0.0:0.1336:0.8664	.	1101	O60333-3	.	S	1101	ENSP00000366297:C1101S;ENSP00000366287:C1101S	ENSP00000366287:C1101S	C	+	1	0	KIF1B	10287131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.302000	0.59092	2.174000	0.68829	0.533000	0.62120	TGT		0.502	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			A	10364544	T	A	10364544	1	1	260	0	1	0	0	0	0	0	0	0	8286	1580	55	5		5	KIF1B	1	10364544	Intron	SNP	T	TCGA-B4-5835-01A-11D-1669-08	7834378	10364544	238886077	2	15545											
ECE1	1889	broad.mit.edu	37	1	21584023	21584023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:21584023C>A	ENST00000374893.6	-	7	897	c.823G>T	c.(823-825)Gag>Tag	p.E275*	ECE1_ENST00000436918.2_Nonsense_Mutation_p.E275*|ECE1_ENST00000528294.1_5'Flank|ECE1_ENST00000357071.4_Nonsense_Mutation_p.E263*|ECE1_ENST00000264205.6_Nonsense_Mutation_p.E272*|ECE1_ENST00000415912.2_Nonsense_Mutation_p.E259*	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	275					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CTTACCTTCTCGTTTTCAGTT	0.577																																																0													202	123	150					1																	21584023		2203	4300	6503	SO:0001587	stop_gained	1889			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.823G>T	1.37:g.21584023C>A	ENSP00000364028:p.Glu275*		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Nonsense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	39	7.388374	0.98252	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	.	.	.	5.3	5.3	0.74995	.	0.095655	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-29.5322	16.8103	0.85717	0.0:1.0:0.0:0.0	.	.	.	.	X	259;263;275;275;272	.	ENSP00000264205:E272X	E	-	1	0	ECE1	21456610	0.999000	0.42202	0.996000	0.52242	0.885000	0.51271	4.341000	0.59335	2.645000	0.89757	0.591000	0.81541	GAG		0.577	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		A	21584023	C	A	21584023	4	1	260	1	0	0	0	0	0	1	0	0	4891	893	31	4	1541	4	ECE1	1	21584023	Nonsense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	11219479	21584023	227666598	3	15546											
HTR1D	3352	broad.mit.edu	37	1	23519762	23519762	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:23519762G>T	ENST00000374619.1	-	1	1460	c.951C>A	c.(949-951)ttC>ttA	p.F317L	HTR1D_ENST00000314113.3_Missense_Mutation_p.F317L	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	317	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACACCACGAAGAAGGGCAGCC	0.552																																																0													122	117	119					1																	23519762		2203	4300	6503	SO:0001583	missense	3352			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.951C>A	1.37:g.23519762G>T	ENSP00000363748:p.Phe317Leu			Missense_Mutation	SNP	ENST00000374619.1	37	CCDS231.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573463	0.65765	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.72942	-0.7;-0.7	5.34	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85682	0.5753	M	0.92555	3.32	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.86892	0.2049	10	0.87932	D	0	.	8.6182	0.33845	0.2374:0.0:0.7626:0.0	.	317	P28221	5HT1D_HUMAN	L	317	ENSP00000313661:F317L;ENSP00000363748:F317L	ENSP00000313661:F317L	F	-	3	2	HTR1D	23392349	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.537000	0.36083	1.272000	0.44329	0.650000	0.86243	TTC		0.552	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		T	23519762	G	T	23519762	3	4	260	1	0	0	0	0	1	0	0	0	7440	933	33	4	186	4	HTR1D	1	23519762	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	1935739	23519762	225730859	4	15547											
WASF2	10163	broad.mit.edu	37	1	27745564	27745564	+	Silent	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:27745564T>C	ENST00000430629.2	-	3	371	c.156A>G	c.(154-156)ggA>ggG	p.G52G	WASF2_ENST00000536657.1_Silent_p.G52G	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	52					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TAAAGAGCTCTCCAAAAATGT	0.453																																																0													94	96	95					1																	27745564		2203	4300	6503	SO:0001819	synonymous_variant	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.156A>G	1.37:g.27745564T>C			B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	CCDS304.1																																																																																				0.453	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		C	27745564	T	C	27745564	2	2	260	1	0	0	0	0	0	0	0	1	17258	1538	54	3		3	WASF2	1	27745564	Silent	SNP	T	TCGA-B4-5835-01A-11D-1669-08	4225802	27745564	221505057	5	15548											
PTAFR	5724	broad.mit.edu	37	1	28477382	28477382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:28477382C>A	ENST00000373857.3	-	2	785	c.151G>T	c.(151-153)Gag>Tag	p.E51*	PTAFR_ENST00000539896.1_Nonsense_Mutation_p.E51*|PTAFR_ENST00000305392.3_Nonsense_Mutation_p.E51*	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	51					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTTTATCTCATTGAATTTC	0.483																																																0													77	73	75					1																	28477382		2203	4300	6503	SO:0001587	stop_gained	5724			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"GPCR / Class A : Platelet-activating factor receptors"	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.151G>T	1.37:g.28477382C>A	ENSP00000362965:p.Glu51*		A3KMC8|A8K2H5	Nonsense_Mutation	SNP	ENST00000373857.3	37	CCDS318.1	.	.	.	.	.	.	.	.	.	.	C	42	9.261005	0.99117	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000301974:E51X	E	-	1	0	PTAFR	28349969	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	GAG		0.483	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		A	28477382	C	A	28477382	4	1	260	1	0	0	0	0	0	1	0	0	12728	835	29	4	881	4	PTAFR	1	28477382	Nonsense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	731818	28477382	220773239	6	15549											
CD2	914	broad.mit.edu	37	1	117307204	117307204	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:117307204delA	ENST00000369478.3	+	4	820	c.712delA	c.(712-714)aaafs	p.K239fs		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	239					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CACCAAAAGGAAAAAACAGAG	0.493																																					NSCLC(14;263 555 26380 43512 51332)											0													85	78	80					1																	117307204		2203	4300	6503	SO:0001589	frameshift_variant	914			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.712delA	1.37:g.117307204delA	ENSP00000358490:p.Lys239fs		Q96TE5	Frame_Shift_Del	DEL	ENST00000369478.3	37	CCDS889.1																																																																																				0.493	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		-	117307204	A	-	117307204	7	5	260	1	0	1	0	1	0	0	0	0	2981	247	9	0	726	0	CD2	1	117307204	Frame_Shift_Del	DEL	A	TCGA-B4-5835-01A-11D-1669-08	88829822	117307204	131943417	7	15550											
INTS3	65123	broad.mit.edu	37	1	153723708	153723708	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:153723708G>A	ENST00000318967.2	+	7	1290	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	INTS3_ENST00000512605.1_Missense_Mutation_p.R35Q|snoU13_ENST00000458994.1_RNA|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R241Q|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000456435.1_Missense_Mutation_p.R35Q	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	242					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCACTGCTTCGGGAACGGGTG	0.522																																																0													82	73	76					1																	153723708		2203	4300	6503	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.722G>A	1.37:g.153723708G>A	ENSP00000318641:p.Arg241Gln		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486913	0.96323	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.87180	2.865	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.67725	0.947;0.953;0.947	T	0.81556	-0.0879	9	0.87932	D	0	.	15.1101	0.72349	0.0:0.0:1.0:0.0	.	35;242;241	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	Q	241;35;241;35	.	ENSP00000318641:R241Q	R	+	2	0	INTS3	151990332	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.844000	0.92147	2.483000	0.83821	0.555000	0.69702	CGG		0.522	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		A	153723708	G	A	153723708	3	1	260	1	0	0	0	0	1	0	0	0	7781	1116	39	1	748	1	INTS3	1	153723708	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	36416504	153723708	95526913	8	15551											
ADAM15	8751	broad.mit.edu	37	1	155026908	155026908	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:155026908G>T	ENST00000356955.2	+	6	639	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	ADAM15_ENST00000531455.1_Missense_Mutation_p.A190S|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368412.3_Missense_Mutation_p.A180S|ADAM15_ENST00000449910.2_Missense_Mutation_p.A180S|ADAM15_ENST00000355956.2_Missense_Mutation_p.A180S|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000447332.3_Missense_Mutation_p.A164S|ADAM15_ENST00000271836.6_Missense_Mutation_p.A180S|ADAM15_ENST00000359280.4_Missense_Mutation_p.A180S|ADAM15_ENST00000360674.4_Missense_Mutation_p.A180S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	180					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCACACCTGTGCCCTGAGCTG	0.622																																																0													57	62	60					1																	155026908		2203	4300	6503	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.538G>T	1.37:g.155026908G>T	ENSP00000349436:p.Ala180Ser		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	1.797	-0.478082	0.04414	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.00832	5.81;5.81;5.8;5.73;5.64;5.8;5.78;5.81	5.09	0.888	0.19206	.	0.918207	0.09034	N	0.858322	T	0.00300	0.0009	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.14805	0.003;0.006;0.005;0.004;0.011;0.005;0.005;0.005;0.004;0.006	B;B;B;B;B;B;B;B;B;B	0.17722	0.005;0.005;0.005;0.019;0.019;0.012;0.012;0.012;0.012;0.008	T	0.40021	-0.9585	10	0.44086	T	0.13	.	4.0221	0.09670	0.2603:0.0:0.5754:0.1643	.	190;197;164;180;180;180;180;180;180;180	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	S	180;180;180;180;180;180;180;190	ENSP00000349436:A180S;ENSP00000403843:A180S;ENSP00000352226:A180S;ENSP00000353892:A180S;ENSP00000357397:A180S;ENSP00000348227:A180S;ENSP00000271836:A180S;ENSP00000432927:A190S	ENSP00000271836:A180S	A	+	1	0	ADAM15	153293532	0.014000	0.17966	0.003000	0.11579	0.068000	0.16541	0.313000	0.19415	0.010000	0.14839	-0.459000	0.05422	GCC		0.622	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		T	155026908	G	T	155026908	3	4	260	1	0	0	0	0	1	0	0	0	237	1319	46	4	560	4	ADAM15	1	155026908	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	1303200	155026908	94223713	9	15552											
OR2B11	127623	broad.mit.edu	37	1	247614975	247614975	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:247614975G>T	ENST00000318749.6	-	1	333	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACTGCATATTGCACAGTGCAG	0.597																																																0													103	95	98					1																	247614975		2203	4300	6503	SO:0001583	missense	127623				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.310C>A	1.37:g.247614975G>T	ENSP00000325682:p.Gln104Lys		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377671	0.42105	.	.	ENSG00000177535	ENST00000318749	T	0.00462	7.26	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000148	T	0.03695	0.0105	H	0.99435	4.565	0.42033	D	0.991033	D	0.89917	1.0	D	0.71184	0.972	T	0.00978	-1.1493	10	0.87932	D	0	.	16.0937	0.81106	0.0:0.0:1.0:0.0	.	104	Q5JQS5	OR2BB_HUMAN	K	104	ENSP00000325682:Q104K	ENSP00000325682:Q104K	Q	-	1	0	OR2B11	245681598	1.000000	0.71417	0.774000	0.31636	0.148000	0.21650	8.459000	0.90367	2.745000	0.94114	0.545000	0.68477	CAA		0.597	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		T	247614975	G	T	247614975	3	4	260	1	0	0	0	0	1	0	0	0	10990	1328	46	4	646	4	OR2B11	1	247614975	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	92588067	247614975	1635646	10	15553											
KHK	3795	broad.mit.edu	37	2	27317365	27317365	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:27317365G>A	ENST00000260599.6	+	3	743	c.230G>A	c.(229-231)cGc>cAc	p.R77H	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Intron	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	77					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGACCTCCGCCGCTATTCT	0.597																																																0													89	88	89					2																	27317365		2203	4300	6503	SO:0001583	missense	3795				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.230G>A	2.37:g.27317365G>A	ENSP00000260599:p.Arg77His		Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540533	0.45176	.	.	ENSG00000138030	ENST00000260599;ENST00000429697	T;T	0.78126	-1.15;-1.15	5.63	4.75	0.60458	Carbohydrate/purine kinase (1);	0.245199	0.37761	N	0.001949	T	0.71367	0.3331	L	0.58428	1.81	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.06405	0.002;0.002	T	0.65134	-0.6242	10	0.23891	T	0.37	-9.1514	11.5715	0.50836	0.0859:0.0:0.9141:0.0	.	77;77	Q6IBK2;P50053	.;KHK_HUMAN	H	77	ENSP00000260599:R77H;ENSP00000404741:R77H	ENSP00000260599:R77H	R	+	2	0	KHK	27170869	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.847000	0.48270	2.649000	0.89929	0.561000	0.74099	CGC		0.597	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			A	27317365	G	A	27317365	3	1	260	1	0	0	0	0	1	0	0	0	8151	1087	38	1	240	1	KHK	2	27317365	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08		27317365	215882008	11	15554											
NEB	4703	broad.mit.edu	37	2	152471015	152471015	+	Silent	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:152471015G>T	ENST00000172853.10	-	73	10794	c.10647C>A	c.(10645-10647)tcC>tcA	p.S3549S	NEB_ENST00000397345.3_Silent_p.S3792S|NEB_ENST00000409198.1_Silent_p.S3549S|NEB_ENST00000427231.2_Silent_p.S3792S|NEB_ENST00000604864.1_Silent_p.S3792S|NEB_ENST00000603639.1_Silent_p.S3792S			P20929	NEBU_HUMAN	nebulin	3549					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCACATGGATGGACCACATCA	0.507																																																0													233	219	224					2																	152471015		1964	4159	6123	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10647C>A	2.37:g.152471015G>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.507	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152471015	G	T	152471015	2	4	260	1	0	0	0	0	0	0	0	1	10304	1335	47	4		4	NEB	2	152471015	Silent	SNP	G	TCGA-B4-5835-01A-11D-1669-08	125153650	152471015	90728358	12	15555											
TTN	7273	broad.mit.edu	37	2	179433734	179433734	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:179433734C>A	ENST00000591111.1	-	276	72426	c.72202G>T	c.(72202-72204)Gat>Tat	p.D24068Y	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16769Y|TTN_ENST00000342175.6_Missense_Mutation_p.D16836Y|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D25709Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23141Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16644Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24068	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGACATCATCCACAGTT	0.438																																																0													198	186	190					2																	179433734		1996	4184	6180	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72202G>T	2.37:g.179433734C>A	ENSP00000465570:p.Asp24068Tyr		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.09	2.133889	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.83	5.83	0.93111	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82495	0.5049	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85519	0.1202	9	0.87932	D	0	.	20.111	0.97911	0.0:1.0:0.0:0.0	.	16644;16769;16836;24068	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	23141;16644;16836;16769;16642	ENSP00000343764:D23141Y;ENSP00000434586:D16644Y;ENSP00000340554:D16836Y;ENSP00000352154:D16769Y	ENSP00000340554:D16836Y	D	-	1	0	TTN	179141980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.747000	0.94245	0.650000	0.86243	GAT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179433734	C	A	179433734	3	1	260	1	0	0	0	0	1	0	0	0	16740	826	29	4	31002	4	TTN	2	179433734	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	26962719	179433734	63765639	13	15556											
TTN	7273	broad.mit.edu	37	2	179447818	179447818	+	Silent	SNP	T	T	A	rs376346696		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:179447818T>A	ENST00000591111.1	-	263	61013	c.60789A>T	c.(60787-60789)ctA>ctT	p.L20263L	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.L12964L|TTN_ENST00000342175.6_Silent_p.L13031L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.L21904L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.L19336L|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Silent_p.L12839L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20263	Ig-like 111.				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)			CTGCTGGTTTTAGCAGTGTGC	0.458																																																0													69	65	66					2																	179447818		1963	4167	6130	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60789A>T	2.37:g.179447818T>A			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179447818	T	A	179447818	2	1	260	1	0	0	0	0	0	0	0	1	16740	1741	61	5		5	TTN	2	179447818	Silent	SNP	T	TCGA-B4-5835-01A-11D-1669-08	14084	179447818	63751555	14	15557											
FSIP2	401024	broad.mit.edu	37	2	186673486	186673486	+	Missense_Mutation	SNP	G	G	A	rs200703801		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:186673486G>A	ENST00000424728.1	+	17	19453	c.19453G>A	c.(19453-19455)Gtt>Att	p.V6485I	FSIP2_ENST00000343098.5_Missense_Mutation_p.V6574I			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6485										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGCTAGACGTTAATAGAAT	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		17038	0.0		0.0	False		,,,				2504	0.001															0													57	54	55					2																	186673486		1819	4063	5882	SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19453G>A	2.37:g.186673486G>A	ENSP00000401306:p.Val6485Ile		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	G	2.416	-0.334162	0.05278	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.52057	0.68;0.68	5.46	-10.9	0.00192	.	1.602910	0.03348	N	0.195734	T	0.19087	0.0458	N	0.04203	-0.255	0.09310	N	1	.	.	.	.	.	.	T	0.07986	-1.0744	8	0.12430	T	0.62	.	9.7149	0.40268	0.1638:0.1139:0.6211:0.1012	.	.	.	.	I	6574;6485	ENSP00000344403:V6574I;ENSP00000401306:V6485I	ENSP00000344403:V6574I	V	+	1	0	FSIP2	186381731	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.581000	0.05820	-2.111000	0.00836	-1.215000	0.01618	GTT		0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		A	186673486	G	A	186673486	3	1	260	1	0	0	0	0	1	0	0	0	6077	1145	40	1	19786	1	FSIP2	2	186673486	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	7225668	186673486	56525887	15	15558											
PTPRN	5798	broad.mit.edu	37	2	220162639	220162639	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:220162639C>A	ENST00000295718.2	-	13	2095	c.1855G>T	c.(1855-1857)Ggg>Tgg	p.G619W	PTPRN_ENST00000409251.3_Missense_Mutation_p.G590W|PTPRN_ENST00000423636.2_Missense_Mutation_p.G529W|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	619					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCATGGGCCCCCTCAGGCCCC	0.637																																																0													16	18	17					2																	220162639		2193	4287	6480	SO:0001583	missense	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1855G>T	2.37:g.220162639C>A	ENSP00000295718:p.Gly619Trp		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033733	0.75504	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.04275	3.81;3.67;3.66	4.61	3.73	0.42828	.	0.144833	0.44902	D	0.000418	T	0.16514	0.0397	L	0.58101	1.795	0.58432	D	0.999994	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.972	T	0.00343	-1.1802	10	0.72032	D	0.01	.	12.1998	0.54319	0.0:0.9167:0.0:0.0832	.	590;619	Q6NSL1;Q16849	.;PTPRN_HUMAN	W	590;619;590;529	ENSP00000386638:G590W;ENSP00000295718:G619W;ENSP00000444244:G529W	ENSP00000295718:G619W	G	-	1	0	PTPRN	219870883	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	2.496000	0.45346	1.161000	0.42604	0.655000	0.94253	GGG		0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			A	220162639	C	A	220162639	3	1	260	1	0	0	0	0	1	0	0	0	12813	623	22	4	1128	4	PTPRN	2	220162639	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	33489153	220162639	23036734	16	15559											
SLC6A11	6538	broad.mit.edu	37	3	10980053	10980053	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:10980053A>T	ENST00000254488.2	+	14	1930	c.1864A>T	c.(1864-1866)Atc>Ttc	p.I622F		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	622					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGACGGGACCATCGCAGCCAT	0.547																																																0													125	112	117					3																	10980053		2203	4300	6503	SO:0001583	missense	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1864A>T	3.37:g.10980053A>T	ENSP00000254488:p.Ile622Phe		B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763339	0.49574	.	.	ENSG00000132164	ENST00000254488	T	0.75589	-0.95	4.81	3.65	0.41850	.	0.165506	0.38778	N	0.001578	T	0.58395	0.2119	N	0.24115	0.695	0.80722	D	1	B	0.14805	0.011	B	0.09377	0.004	T	0.49634	-0.8919	10	0.31617	T	0.26	.	10.3065	0.43683	0.9219:0.0:0.0781:0.0	.	622	P48066	S6A11_HUMAN	F	622	ENSP00000254488:I622F	ENSP00000254488:I622F	I	+	1	0	SLC6A11	10955053	1.000000	0.71417	0.998000	0.56505	0.654000	0.38779	4.795000	0.62489	0.705000	0.31890	0.533000	0.62120	ATC		0.547	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		T	10980053	A	T	10980053	3	4	260	1	0	0	0	0	1	0	0	0	14680	217	8	5	1918	5	SLC6A11	3	10980053	Missense_Mutation	SNP	A	TCGA-B4-5835-01A-11D-1669-08		10980053	187042377	17	15560											
SETD2	29072	broad.mit.edu	37	3	47163797	47163797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:47163797C>A	ENST00000409792.3	-	3	2371	c.2329G>T	c.(2329-2331)Gaa>Taa	p.E777*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	777					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCAACTGGTTCTTTAACTACT	0.398			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													143	139	141					3																	47163797		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2329G>T	3.37:g.47163797C>A	ENSP00000386759:p.Glu777*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	38	7.240238	0.98157	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.18	5.18	0.71444	.	0.201892	0.34828	N	0.003654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	10.7702	0.46319	0.0:0.9067:0.0:0.0933	.	.	.	.	X	777;777;777;733	.	ENSP00000386759:E777X	E	-	1	0	SETD2	47138801	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.272000	0.51616	2.679000	0.91253	0.655000	0.94253	GAA		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47163797	C	A	47163797	4	1	260	1	0	0	0	0	0	1	0	0	14137	922	32	4	5441	4	SETD2	3	47163797	Nonsense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	36183744	47163797	150858633	18	15561											
SETD2	29072	broad.mit.edu	37	3	47164447	47164447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:47164447G>T	ENST00000409792.3	-	3	1721	c.1679C>A	c.(1678-1680)tCa>tAa	p.S560*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	560					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TATAGGTTTTGAAAGGGTAGA	0.348			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													90	96	94					3																	47164447		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1679C>A	3.37:g.47164447G>T	ENSP00000386759:p.Ser560*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	33	5.281156	0.95489	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.13	3.21	0.36854	.	0.303719	0.23760	N	0.044828	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2635	0.49097	0.0721:0.1282:0.7997:0.0	.	.	.	.	X	560;560;560;516	.	.	S	-	2	0	SETD2	47139451	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.722000	0.54948	1.514000	0.48869	0.650000	0.86243	TCA		0.348	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47164447	G	T	47164447	4	4	260	1	0	0	0	0	0	1	0	0	14137	1294	45	4	6091	4	SETD2	3	47164447	Nonsense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	650	47164447	150857983	19	15562											
NPHP3	27031	broad.mit.edu	37	3	132401619	132401619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:132401619delT	ENST00000337331.5	-	26	3826	c.3740delA	c.(3739-3741)aagfs	p.K1247fs	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1247					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCATAAATCTTTAATGCTCT	0.333																																																0													108	112	111					3																	132401619		2203	4300	6503	SO:0001589	frameshift_variant	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3740delA	3.37:g.132401619delT	ENSP00000338766:p.Lys1247fs		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Frame_Shift_Del	DEL	ENST00000337331.5	37	CCDS3078.1																																																																																				0.333	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		-	132401619	T	-	132401619	7	5	260	1	0	1	0	1	0	0	0	0	10582	1609	56	0	260	0	NPHP3	3	132401619	Frame_Shift_Del	DEL	T	TCGA-B4-5835-01A-11D-1669-08	85237172	132401619	65620811	20	15563											
DBR1	51163	broad.mit.edu	37	3	137886050	137886050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:137886050delA	ENST00000260803.4	-	5	740	c.587delT	c.(586-588)ttcfs	p.F196fs	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	196					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTCTTGTCGGAAAAAAGATTT	0.373																																																0													81	80	80					3																	137886050		2203	4300	6503	SO:0001589	frameshift_variant	51163			AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.587delT	3.37:g.137886050delA	ENSP00000260803:p.Phe196fs		Q96GH0|Q9NXQ6	Frame_Shift_Del	DEL	ENST00000260803.4	37	CCDS33863.1																																																																																				0.373	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			-	137886050	A	-	137886050	7	5	260	1	0	1	0	1	0	0	0	0	4259	246	9	0	1063	0	DBR1	3	137886050	Frame_Shift_Del	DEL	A	TCGA-B4-5835-01A-11D-1669-08	5484431	137886050	60136380	21	15564											
ATR	545	broad.mit.edu	37	3	142177883	142177883	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:142177883C>T	ENST00000350721.4	-	44	7541	c.7420G>A	c.(7420-7422)Gga>Aga	p.G2474R	ATR_ENST00000383101.3_Missense_Mutation_p.G2410R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2474	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGACGGTCTCCAAGCCCCAGA	0.373								Other conserved DNA damage response genes																																								0													86	83	84					3																	142177883		2203	4300	6503	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7420G>A	3.37:g.142177883C>T	ENSP00000343741:p.Gly2474Arg		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803057|4.803057	0.90623|0.90623	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	D;D|.	0.83755|.	-1.76;-1.76|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.90310|.	0.6969|.	H|H	0.97983|0.97983	4.12|4.12	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|.	0.94220|.	0.7466|.	10|.	0.87932|.	D|.	0|.	-5.7973|-5.7973	17.8963|17.8963	0.88890|0.88890	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2474|.	Q13535|.	ATR_HUMAN|.	R|X	2474;2410|320	ENSP00000343741:G2474R;ENSP00000372581:G2410R|.	ENSP00000343741:G2474R|.	G|W	-|-	1|2	0|0	ATR|ATR	143660573|143660573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.776000|7.776000	0.85560|0.85560	2.308000|2.308000	0.77769|0.77769	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142177883	C	T	142177883	3	4	260	1	0	0	0	0	1	0	0	0	1204	603	21	2	530	2	ATR	3	142177883	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	4291833	142177883	55844547	22	15565											
FGG	2266	broad.mit.edu	37	4	155533709	155533709	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr4:155533709A>T	ENST00000336098.3	-	1	91	c.53T>A	c.(52-54)tTa>tAa	p.L18*	FGG_ENST00000404648.3_Nonsense_Mutation_p.L18*|FGG_ENST00000405164.1_Nonsense_Mutation_p.L18*|FGG_ENST00000407946.1_Nonsense_Mutation_p.L18*	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	18					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGAGAGAAATAAAAGAGCATA	0.403																																																0													90	98	95					4																	155533709		2203	4300	6503	SO:0001587	stop_gained	2266				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.53T>A	4.37:g.155533709A>T	ENSP00000336829:p.Leu18*		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Nonsense_Mutation	SNP	ENST00000336098.3	37	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244337	0.39697	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	.	.	.	5.83	-2.41	0.06562	.	1.768570	0.02607	N	0.101689	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6998	0.45920	0.2892:0.1267:0.5841:0.0	.	.	.	.	X	18	.	ENSP00000336829:L18X	L	-	2	0	FGG	155753159	0.000000	0.05858	0.000000	0.03702	0.275000	0.26752	0.615000	0.24329	-0.650000	0.05423	-0.250000	0.11733	TTA		0.403	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		T	155533709	A	T	155533709	4	4	260	1	0	0	0	0	0	1	0	0	5872	372	13	5	1363	5	FGG	4	155533709	Nonsense_Mutation	SNP	A	TCGA-B4-5835-01A-11D-1669-08		155533709	35620567	23	15566											
BTF3	689	broad.mit.edu	37	5	72801044	72801047	+	Frame_Shift_Del	DEL	CCAA	CCAA	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr5:72801044_72801047delCCAA	ENST00000335895.8	+	6	621_624	c.470_473delCCAA	c.(469-474)tccaagfs	p.SK157fs	BTF3_ENST00000380591.3_Frame_Shift_Del_p.SK201fs|BTF3_ENST00000514505.2_3'UTR	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3	0	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		GATGAGGCTTCCAAGAATGAGGCA	0.314																																																0																																										SO:0001589	frameshift_variant	689			M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741			1125	protein-coding gene	gene with protein product		602542	"nascent-polypeptide-associated complex beta polypeptide"	NACB		2320128, 1386332, 15716105	Standard	NM_001207		Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000335895.8:c.470_473delCCAA	5.37:g.72801044_72801047delCCAA	ENSP00000338516:p.Ser157fs		B4DWI7|E9PCP5	Frame_Shift_Del	DEL	ENST00000335895.8	37	CCDS4019.1																																																																																				0.314	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219815.2	NM_001207		-	72801047	CCAA	-	72801044	7	5	260	1	0	1	0	1	0	0	0	0	1553	855	30	0	624	0	BTF3	5	72801044	Frame_Shift_Del	DEL	CCAA	TCGA-B4-5835-01A-11D-1669-08		72801044	108114216	24	15567											
PCDH1	5097	broad.mit.edu	37	5	141248675	141248675	+	Missense_Mutation	SNP	C	C	T	rs145360303		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr5:141248675C>T	ENST00000394536.3	-	2	501	c.362G>A	c.(361-363)cGt>cAt	p.R121H	PCDH1_ENST00000503492.1_Missense_Mutation_p.R121H|PCDH1_ENST00000456271.1_Missense_Mutation_p.R121H|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000287008.3_Missense_Mutation_p.R121H|PCDH1_ENST00000536585.1_Missense_Mutation_p.R99H	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGCATTCACGGAGCCCCTC	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20062	0.0		0.0	False		,,,				2504	0.0				Ovarian(132;1609 1739 4190 14731 45037)											0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	97	93	95		362,362	4.2	1	5	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PCDH1	NM_002587.3,NM_032420.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	121/1061,121/1238	141248675	1,13005	2203	4300	6503	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.362G>A	5.37:g.141248675C>T	ENSP00000378043:p.Arg121His		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.40	3.615364	0.66672	0.0	1.16E-4	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585;ENST00000514773	T;T;T;T;T;T;T	0.53640	0.61;0.67;0.67;0.64;0.64;0.62;2.06	4.21	4.21	0.49690	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.51477	D	0.000083	T	0.58148	0.2102	L	0.44542	1.39	0.41612	D	0.988915	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.938	T	0.58418	-0.7640	10	0.44086	T	0.13	.	14.4287	0.67233	0.0:1.0:0.0:0.0	.	121;121	Q08174;Q08174-2	PCDH1_HUMAN;.	H	121;121;121;121;132;99;99	ENSP00000424667:R121H;ENSP00000287008:R121H;ENSP00000378043:R121H;ENSP00000403497:R121H;ENSP00000350122:R132H;ENSP00000438825:R99H;ENSP00000424163:R99H	ENSP00000287008:R121H	R	-	2	0	PCDH1	141228859	0.710000	0.27896	0.964000	0.40570	0.982000	0.71751	1.468000	0.35332	2.339000	0.79563	0.555000	0.69702	CGT		0.592	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		T	141248675	C	T	141248675	3	4	260	1	0	0	0	0	1	0	0	0	11508	536	19	1	3451	1	PCDH1	5	141248675	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	68447631	141248675	39666585	25	15568											
SYNE1	23345	broad.mit.edu	37	6	152784523	152784523	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr6:152784523C>A	ENST00000367255.5	-	19	2663	c.2062G>T	c.(2062-2064)Ggg>Tgg	p.G688W	SYNE1_ENST00000367248.3_Missense_Mutation_p.G678W|SYNE1_ENST00000367253.4_Missense_Mutation_p.G688W|SYNE1_ENST00000466159.2_Missense_Mutation_p.G688W|SYNE1_ENST00000448038.1_Missense_Mutation_p.G695W|SYNE1_ENST00000413186.2_Missense_Mutation_p.G688W|SYNE1_ENST00000341594.5_Missense_Mutation_p.G695W|SYNE1_ENST00000495090.2_Missense_Mutation_p.G255W|SYNE1_ENST00000423061.1_Missense_Mutation_p.G695W|SYNE1_ENST00000265368.4_Missense_Mutation_p.G688W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	688					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCACCGCCCATTTAGCAAC	0.418										HNSCC(10;0.0054)																																						0													135	124	128					6																	152784523		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2062G>T	6.37:g.152784523C>A	ENSP00000356224:p.Gly688Trp		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793118	0.90453	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159	T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000013	T	0.55178	0.1904	M	0.68593	2.085	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;1.0;1.0;1.0;1.0	T	0.55490	-0.8133	10	0.66056	D	0.02	.	19.8892	0.96923	0.0:1.0:0.0:0.0	.	671;688;688;255;678;688;695	B3W695;Q8NF91;F5H4Q0;F5H422;F5GXQ8;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	W	688;695;688;695;695;688;678;688;255;688	ENSP00000356224:G688W;ENSP00000396024:G695W;ENSP00000265368:G688W;ENSP00000390975:G695W;ENSP00000341887:G695W;ENSP00000356222:G688W;ENSP00000356217:G678W;ENSP00000414510:G688W;ENSP00000438508:G255W;ENSP00000446021:G688W	ENSP00000265368:G688W	G	-	1	0	SYNE1	152826216	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	7.701000	0.84566	2.777000	0.95525	0.591000	0.81541	GGG		0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152784523	C	A	152784523	3	1	260	1	0	0	0	0	1	0	0	0	15450	594	21	4	24916	4	SYNE1	6	152784523	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08		152784523	18330544	26	15569											
SYNJ2	8871	broad.mit.edu	37	6	158483043	158483043	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr6:158483043G>T	ENST00000355585.4	+	8	1049	c.974G>T	c.(973-975)tGc>tTc	p.C325F	SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Missense_Mutation_p.C325F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.C325F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	325	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGGGCTTCTTGCCACGCGGGC	0.562																																																0													135	147	143					6																	158483043		2203	4300	6503	SO:0001583	missense	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.974G>T	6.37:g.158483043G>T	ENSP00000347792:p.Cys325Phe		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	4.043	0.005565	0.07866	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	T;T;T	0.57107	0.42;0.42;0.42	5.12	4.16	0.48862	Synaptojanin, N-terminal (2);	0.381500	0.25663	N	0.029138	T	0.11793	0.0287	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.0;0.004;0.001	B;B;B	0.13407	0.002;0.009;0.004	T	0.19484	-1.0304	10	0.10111	T	0.7	.	6.7304	0.23381	0.0:0.1982:0.4879:0.3139	.	325;325;325	E7ER60;O15056;O15056-3	.;SYNJ2_HUMAN;.	F	325	ENSP00000356089:C325F;ENSP00000356088:C325F;ENSP00000347792:C325F	ENSP00000347792:C325F	C	+	2	0	SYNJ2	158403031	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.593000	0.46180	2.407000	0.81776	0.456000	0.33151	TGC		0.562	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			T	158483043	G	T	158483043	3	4	260	1	0	0	0	0	1	0	0	0	15458	1319	46	4	1004	4	SYNJ2	6	158483043	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	5698520	158483043	12632024	27	15570											
ZNF479	90827	broad.mit.edu	37	7	57188556	57188556	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:57188556T>G	ENST00000331162.4	-	5	836	c.566A>C	c.(565-567)aAa>aCa	p.K189T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTGCCATATTTGTTACATTT	0.299																																																0													58	55	56					7																	57188556		1940	4159	6099	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.566A>C	7.37:g.57188556T>G	ENSP00000333776:p.Lys189Thr			Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	7.167	0.586836	0.13749	.	.	ENSG00000185177	ENST00000331162	T	0.36157	1.27	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21761	0.0524	L	0.28694	0.88	0.20196	N	0.999927	P	0.36282	0.546	B	0.30401	0.115	T	0.14309	-1.0477	9	0.87932	D	0	.	5.7317	0.18042	0.0:0.0:0.0:1.0	.	189	Q96JC4	ZN479_HUMAN	T	189	ENSP00000333776:K189T	ENSP00000333776:K189T	K	-	2	0	ZNF479	57192498	0.008000	0.16893	0.042000	0.18584	0.040000	0.13550	0.838000	0.27572	0.339000	0.23719	0.329000	0.21502	AAA		0.299	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		G	57188556	T	G	57188556	3	3	260	1	0	0	0	0	1	0	0	0	17938	1841	64	5	1012	5	ZNF479	7	57188556	Missense_Mutation	SNP	T	TCGA-B4-5835-01A-11D-1669-08		57188556	101950107	28	15571											
KIAA1324L	222223	broad.mit.edu	37	7	86536993	86536993	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:86536993C>G	ENST00000450689.2	-	18	2736	c.2551G>C	c.(2551-2553)Gtc>Ctc	p.V851L	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V611L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V780L|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V684L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	851						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACCTGGGGACTGAAATCACT	0.358																																																0													112	100	104					7																	86536993		2203	4300	6503	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2551G>C	7.37:g.86536993C>G	ENSP00000413445:p.Val851Leu		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.142683|2.142683	0.37825|0.37825	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T|T;T;T;T	0.14640|0.14640	2.49|2.78;2.52;2.49;2.53	5.92|5.92	5.04|5.04	0.67666|0.67666	.|Mannose-6-phosphate receptor, binding (1);	.|0.110392	.|0.64402	.|N	.|0.000009	T|T	0.21590|0.21590	0.0520|0.0520	L|L	0.31926|0.31926	0.97|0.97	0.58432|0.58432	D|D	0.999996|0.999996	.|B;D;D	.|0.60575	.|0.077;0.988;0.988	.|B;P;P	.|0.61658	.|0.174;0.892;0.892	T|T	0.03981|0.03981	-1.0987|-1.0987	7|10	0.13470|0.15952	T|T	0.59|0.53	.|.	14.3162|14.3162	0.66452|0.66452	0.0:0.8518:0.1482:0.0|0.0:0.8518:0.1482:0.0	.|.	.|851;611;684	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	T|L	811|851;611;780;684	ENSP00000406961:S811T|ENSP00000413445:V851L;ENSP00000297222:V611L;ENSP00000397377:V780L;ENSP00000402390:V684L	ENSP00000406961:S811T|ENSP00000297222:V611L	S|V	-|-	2|1	0|0	KIAA1324L|KIAA1324L	86374929|86374929	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	3.182000|3.182000	0.50910|0.50910	1.494000|1.494000	0.48533|0.48533	0.655000|0.655000	0.94253|0.94253	AGT|GTC		0.358	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		G	86536993	C	G	86536993	3	3	260	1	0	0	0	0	1	0	0	0	8226	565	20	4	558	4	KIAA1324L	7	86536993	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	29348437	86536993	72601670	29	15572											
PLOD3	8985	broad.mit.edu	37	7	100859716	100859716	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:100859716C>A	ENST00000223127.3	-	3	711	c.313G>T	c.(313-315)Gat>Tat	p.D105Y	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	105					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATGATCATATCCTCCCGGTCA	0.572																																																0													178	164	169					7																	100859716		2203	4300	6503	SO:0001583	missense	8985			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.313G>T	7.37:g.100859716C>A	ENSP00000223127:p.Asp105Tyr		B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001891	0.54254	.	.	ENSG00000106397	ENST00000223127;ENST00000541462;ENST00000414785	T;T	0.63580	-0.05;-0.05	4.95	4.95	0.65309	.	0.185032	0.45606	D	0.000350	T	0.80701	0.4673	M	0.88450	2.955	0.47994	D	0.999564	D	0.89917	1.0	D	0.67231	0.95	D	0.84644	0.0697	10	0.87932	D	0	-1.9296	13.6656	0.62393	0.0:1.0:0.0:0.0	.	105	O60568	PLOD3_HUMAN	Y	105;9;109	ENSP00000223127:D105Y;ENSP00000407551:D109Y	ENSP00000223127:D105Y	D	-	1	0	PLOD3	100646436	0.996000	0.38824	0.928000	0.36995	0.498000	0.33706	3.421000	0.52742	2.307000	0.77673	0.491000	0.48974	GAT		0.572	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			A	100859716	C	A	100859716	3	1	260	1	0	0	0	0	1	0	0	0	12105	855	30	4	1971	4	PLOD3	7	100859716	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	14322723	100859716	58278947	30	15573											
CALD1	800	broad.mit.edu	37	7	134642982	134642982	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:134642982C>A	ENST00000361675.2	+	11	2231	c.2002C>A	c.(2002-2004)Caa>Aaa	p.Q668K	CALD1_ENST00000393118.2_Missense_Mutation_p.Q433K|CALD1_ENST00000543443.1_Missense_Mutation_p.Q418K|CALD1_ENST00000424922.1_Missense_Mutation_p.Q407K|CALD1_ENST00000417172.1_Missense_Mutation_p.Q413K|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Missense_Mutation_p.Q438K|CALD1_ENST00000361901.2_Missense_Mutation_p.Q413K|CALD1_ENST00000495522.1_Missense_Mutation_p.Q432K|CALD1_ENST00000361388.2_Missense_Mutation_p.Q439K			Q05682	CALD1_HUMAN	caldesmon 1	668	Strong actin-binding. {ECO:0000250}.|Tropomyosin-binding. {ECO:0000255}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATCGACCCATCAAGCAGCAAT	0.398																																																0													186	181	183					7																	134642982		2203	4300	6503	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.2002C>A	7.37:g.134642982C>A	ENSP00000354826:p.Gln668Lys		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257549	0.22965	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000432646;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.51	5.51	0.81932	.	0.320980	0.21786	N	0.069130	T	0.47097	0.1427	M	0.62723	1.935	0.29019	N	0.886377	P;P;P;P;P;P;P;P;P;P	0.47484	0.871;0.7;0.744;0.871;0.844;0.844;0.844;0.7;0.871;0.896	P;B;B;P;B;B;B;B;P;P	0.49528	0.533;0.307;0.433;0.533;0.307;0.307;0.398;0.307;0.533;0.614	T	0.43065	-0.9414	10	0.10111	T	0.7	-25.2234	14.188	0.65620	0.1862:0.8137:0.0:0.0	.	362;418;438;432;407;433;413;439;668;413	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	K	413;413;439;438;46;668;413;433;407;432;418	ENSP00000398826:Q413K;ENSP00000411476:Q413K;ENSP00000355000:Q439K;ENSP00000395710:Q438K;ENSP00000354826:Q668K;ENSP00000354513:Q413K;ENSP00000376826:Q433K;ENSP00000393621:Q407K;ENSP00000419673:Q432K;ENSP00000445641:Q418K	ENSP00000355000:Q439K	Q	+	1	0	CALD1	134293522	0.733000	0.28132	1.000000	0.80357	0.980000	0.70556	0.603000	0.24149	2.589000	0.87451	0.655000	0.94253	CAA		0.398	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		A	134642982	C	A	134642982	3	1	260	1	0	0	0	0	1	0	0	0	2583	827	29	4	2093	4	CALD1	7	134642982	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	33783266	134642982	24495681	31	15574											
KLRG2	346689	broad.mit.edu	37	7	139164916	139164916	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:139164916T>A	ENST00000340940.4	-	2	904	c.835A>T	c.(835-837)Att>Ttt	p.I279F	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	279						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					AGGACCACAATGACAACCCCA	0.597																																																0													101	85	91					7																	139164916		2203	4300	6503	SO:0001583	missense	346689			AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"Killer cell lectin-like receptors", "C-type lectin domain containing"	24778	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member B"						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.835A>T	7.37:g.139164916T>A	ENSP00000339356:p.Ile279Phe		Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251104	0.59212	.	.	ENSG00000188883	ENST00000340940	T	0.17528	2.27	4.75	-2.42	0.06542	.	1.547490	0.04375	N	0.359833	T	0.17704	0.0425	L	0.27053	0.805	0.19300	N	0.999974	D	0.54047	0.964	P	0.52481	0.7	T	0.24621	-1.0155	10	0.45353	T	0.12	0.5113	5.2171	0.15348	0.0:0.3381:0.1516:0.5103	.	279	A4D1S0	KLRG2_HUMAN	F	279	ENSP00000339356:I279F	ENSP00000339356:I279F	I	-	1	0	KLRG2	138815456	0.007000	0.16637	0.000000	0.03702	0.843000	0.47879	-0.040000	0.12104	-0.203000	0.10251	0.529000	0.55759	ATT		0.597	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508		A	139164916	T	A	139164916	3	1	260	1	0	0	0	0	1	0	0	0	8424	1464	51	5	410	5	KLRG2	7	139164916	Missense_Mutation	SNP	T	TCGA-B4-5835-01A-11D-1669-08	4521934	139164916	19973747	32	15575											
PLEC	5339	broad.mit.edu	37	8	144991469	144991469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr8:144991469G>A	ENST00000322810.4	-	32	13100	c.12931C>T	c.(12931-12933)Cag>Tag	p.Q4311*	PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q4174*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q4174*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q4160*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q4142*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q4201*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q4178*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q4197*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q4152*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4311	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGCACTCCTGCTCGGACAGC	0.617																																																0													65	74	71					8																	144991469		2147	4234	6381	SO:0001587	stop_gained	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12931C>T	8.37:g.144991469G>A	ENSP00000323856:p.Gln4311*		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	54	22.813701	0.99951	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.4072	0.90539	0.0:0.0:1.0:0.0	.	.	.	.	X	4174;4178;4174;4142;4311;4152;4160;4201;4197	.	ENSP00000323856:Q4311X	Q	-	1	0	PLEC	145063457	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.567000	0.98161	2.679000	0.91253	0.549000	0.68633	CAG		0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144991469	G	A	144991469	4	1	260	1	0	0	0	0	0	1	0	0	12054	1328	46	2	1127	2	PLEC	8	144991469	Nonsense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08		144991469	1372553	33	15576	122	2									
PLEC	5339	broad.mit.edu	37	8	144991470	144991470	+	Silent	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr8:144991470C>T	ENST00000322810.4	-	32	13099	c.12930G>A	c.(12928-12930)gaG>gaA	p.E4310E	PLEC_ENST00000345136.3_Silent_p.E4173E|PLEC_ENST00000354589.3_Silent_p.E4173E|PLEC_ENST00000356346.3_Silent_p.E4159E|PLEC_ENST00000398774.2_Silent_p.E4141E|PLEC_ENST00000436759.2_Silent_p.E4200E|PLEC_ENST00000357649.2_Silent_p.E4177E|PLEC_ENST00000527096.1_Silent_p.E4196E|PLEC_ENST00000354958.2_Silent_p.E4151E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4310	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCACTCCTGCTCGGACAGCT	0.622																																																0													65	74	71					8																	144991470		2150	4236	6386	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12930G>A	8.37:g.144991470C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144991470	C	T	144991470	2	4	260	1	0	0	0	0	0	0	0	1	12054	796	28	2		2	PLEC	8	144991470	Silent	SNP	C	TCGA-B4-5835-01A-11D-1669-08	1	144991470	1372552	34	15577	122	2									
VPS13A	23230	broad.mit.edu	37	9	79985485	79985485	+	Silent	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr9:79985485C>T	ENST00000360280.3	+	65	9158	c.8898C>T	c.(8896-8898)ggC>ggT	p.G2966G	VPS13A_ENST00000376634.4_Silent_p.G2966G|VPS13A_ENST00000357409.5_Silent_p.G2966G|VPS13A_ENST00000376636.3_Silent_p.G2927G	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2966					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGGAAAAGGCTTAGTTTCTG	0.388																																																0													86	81	83					9																	79985485		2203	4300	6503	SO:0001819	synonymous_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8898C>T	9.37:g.79985485C>T			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	CCDS6655.1																																																																																				0.388	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		T	79985485	C	T	79985485	2	4	260	1	0	0	0	0	0	0	0	1	17194	784	28	2		2	VPS13A	9	79985485	Silent	SNP	C	TCGA-B4-5835-01A-11D-1669-08		79985485	61227946	35	15578											
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000436847.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373823.3_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697																																																0													22	24	23					9																	124062285		1599	3598	5197	SO:0001630	splice_region_variant	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.144+2T>G	9.37:g.124062285T>G			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37	CCDS6828.1																																																																																				0.697	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Intron	G	124062285	T	G	124062285	5	3	260	1	0	0	0	0	0	0	1	0	6827	1710	59	5	148	5	GSN	9	124062285	Splice_Site	SNP	T	TCGA-B4-5835-01A-11D-1669-08	44076800	124062285	17151146	36	15579											
THNSL1	79896	broad.mit.edu	37	10	25313297	25313297	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:25313297C>T	ENST00000524413.1	+	3	1492	c.1145C>T	c.(1144-1146)aCa>aTa	p.T382I	THNSL1_ENST00000376356.4_Missense_Mutation_p.T382I			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	382						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	TCAGGAGACACAGGGAGTGCA	0.358																																																0													102	101	102					10																	25313297		2203	4300	6503	SO:0001583	missense	79896			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1145C>T	10.37:g.25313297C>T	ENSP00000434887:p.Thr382Ile		B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201680	0.58234	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.23348	1.91;1.91	5.71	4.81	0.61882	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.053127	0.85682	N	0.000000	T	0.65144	0.2663	H	0.96720	3.87	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	T	0.78388	-0.2223	10	0.87932	D	0	-29.7981	14.5712	0.68213	0.0:0.9298:0.0:0.0702	.	382	Q8IYQ7	THNS1_HUMAN	I	382	ENSP00000434887:T382I;ENSP00000365534:T382I	ENSP00000365534:T382I	T	+	2	0	THNSL1	25353303	1.000000	0.71417	0.958000	0.39756	0.985000	0.73830	7.293000	0.78740	1.410000	0.46936	0.650000	0.86243	ACA		0.358	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		T	25313297	C	T	25313297	3	4	260	1	0	0	0	0	1	0	0	0	15867	478	17	2	1147	2	THNSL1	10	25313297	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08		25313297	110221450	37	15580											
ANKRD26	22852	broad.mit.edu	37	10	27355434	27355434	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:27355434delT	ENST00000376087.4	-	11	1416	c.1251delA	c.(1249-1251)gaafs	p.E417fs	ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.E466fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	417					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CCCAAGGTGATTCTATATCTT	0.299																																																0													81	82	82					10																	27355434		1817	4060	5877	SO:0001589	frameshift_variant	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1251delA	10.37:g.27355434delT	ENSP00000365255:p.Glu417fs		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Frame_Shift_Del	DEL	ENST00000376087.4	37	CCDS41499.1																																																																																				0.299	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			-	27355434	T	-	27355434	7	5	260	1	0	1	0	1	0	0	0	0	654	1490	52	0	3977	0	ANKRD26	10	27355434	Frame_Shift_Del	DEL	T	TCGA-B4-5835-01A-11D-1669-08	2042137	27355434	108179313	38	15581											
PRKG1	5592	broad.mit.edu	37	10	54042044	54042044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:54042044delG	ENST00000401604.2	+	14	1826	c.1632delG	c.(1630-1632)ctgfs	p.L544fs	PRKG1_ENST00000373975.2_Frame_Shift_Del_p.L262fs|PRKG1_ENST00000373985.1_Frame_Shift_Del_p.L532fs|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373980.4_Frame_Shift_Del_p.L559fs			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	544	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACTGGTCACTGGGAATCCTAA	0.448																																																0													103	91	95					10																	54042044		2203	4300	6503	SO:0001589	frameshift_variant	5592				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1632delG	10.37:g.54042044delG	ENSP00000384200:p.Leu544fs		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Frame_Shift_Del	DEL	ENST00000401604.2	37	CCDS44399.1																																																																																				0.448	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				-	54042044	G	-	54042044	7	5	260	1	0	1	0	1	0	0	0	0	12527	1335	47	0	2001	0	PRKG1	10	54042044	Frame_Shift_Del	DEL	G	TCGA-B4-5835-01A-11D-1669-08	26686610	54042044	81492703	39	15582											
ANKRD1	27063	broad.mit.edu	37	10	92679010	92679010	+	Silent	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:92679010G>A	ENST00000371697.3	-	3	471	c.223C>T	c.(223-225)Cta>Tta	p.L75L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	75					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CTTTGTTCTAGTTTTTTCTTT	0.299																																																0													47	47	47					10																	92679010		2201	4297	6498	SO:0001819	synonymous_variant	27063			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"Ankyrin repeat domain containing"	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.223C>T	10.37:g.92679010G>A			Q96LE7	Silent	SNP	ENST00000371697.3	37	CCDS7412.1																																																																																				0.299	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		A	92679010	G	A	92679010	2	1	260	1	0	0	0	0	0	0	0	1	637	1020	36	2		2	ANKRD1	10	92679010	Silent	SNP	G	TCGA-B4-5835-01A-11D-1669-08	38636966	92679010	42855737	40	15583											
RRP12	23223	broad.mit.edu	37	10	99130679	99130679	+	Splice_Site	DEL	C	C	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:99130679delC	ENST00000370992.4	-	21	2614		c.e21+1		RRP12_ENST00000479481.1_Splice_Site|RRP12_ENST00000414986.1_Splice_Site|RRP12_ENST00000315563.6_Splice_Site|RRP12_ENST00000536831.1_Splice_Site	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)							integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGAGCCCTCACCCTCTTGGCG	0.652																																																0													45	47	46					10																	99130679		2203	4300	6503	SO:0001630	splice_region_variant	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2502+1G>-	10.37:g.99130679delC			B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Splice_Site	DEL	ENST00000370992.4	37	CCDS7457.1																																																																																				0.652	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	Intron	-	99130679	C	-	99130679	8	5	260	1	0	1	0	1	0	0	1	0	13692	521	18	0	1446	0	RRP12	10	99130679	Splice_Site	DEL	C	TCGA-B4-5835-01A-11D-1669-08	6451669	99130679	36404068	41	15584											
FAM178A	55719	broad.mit.edu	37	10	102709854	102709854	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:102709854C>T	ENST00000238961.4	+	16	3684	c.3142C>T	c.(3142-3144)Ctt>Ttt	p.L1048F	FAM178A_ENST00000370269.3_Missense_Mutation_p.L1048F	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1048						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											ACATCGCTATCTTGTGCAGAT	0.348																																																0													143	137	139					10																	102709854		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3142C>T	10.37:g.102709854C>T	ENSP00000238961:p.Leu1048Phe		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721022	0.68959	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.61510	0.11;0.1	5.11	5.11	0.69529	.	0.169417	0.38326	N	0.001730	T	0.74230	0.3689	M	0.69823	2.125	0.51012	D	0.999902	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77330	-0.2628	10	0.87932	D	0	-10.5007	14.032	0.64622	0.0:1.0:0.0:0.0	.	1048;1048	Q8IX21;B1AL17	F178A_HUMAN;.	F	1048	ENSP00000238961:L1048F;ENSP00000359292:L1048F	ENSP00000238961:L1048F	L	+	1	0	FAM178A	102699844	1.000000	0.71417	0.999000	0.59377	0.796000	0.44982	3.091000	0.50199	2.383000	0.81215	0.585000	0.79938	CTT		0.348	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			T	102709854	C	T	102709854	3	4	260	1	0	0	0	0	1	0	0	0	5505	913	32	2	3204	2	FAM178A	10	102709854	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	3579175	102709854	32824893	42	15585											
TACC2	10579	broad.mit.edu	37	10	123987406	123987406	+	Silent	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:123987406T>C	ENST00000369005.1	+	14	8119	c.7779T>C	c.(7777-7779)caT>caC	p.H2593H	TACC2_ENST00000260733.3_Silent_p.H671H|TACC2_ENST00000360561.3_Silent_p.H671H|TACC2_ENST00000515603.1_Silent_p.H2548H|TACC2_ENST00000369001.1_Silent_p.H297H|TACC2_ENST00000453444.2_Silent_p.H2597H|TACC2_ENST00000358010.1_Silent_p.H739H|TACC2_ENST00000369000.1_Silent_p.H293H|TACC2_ENST00000369004.3_Silent_p.H683H|TACC2_ENST00000368999.1_Silent_p.H683H|TACC2_ENST00000515273.1_Silent_p.H2597H|TACC2_ENST00000513429.1_Silent_p.H739H|TACC2_ENST00000334433.3_Silent_p.H2593H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2593					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAAACCAGCATCCTGTCCCAC	0.532																																																0													97	95	95					10																	123987406		2203	4300	6503	SO:0001819	synonymous_variant	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7779T>C	10.37:g.123987406T>C			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	CCDS7626.1																																																																																				0.532	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			C	123987406	T	C	123987406	2	2	260	1	0	0	0	0	0	0	0	1	15507	1432	50	3		3	TACC2	10	123987406	Silent	SNP	T	TCGA-B4-5835-01A-11D-1669-08	21277552	123987406	11547341	43	15586											
KCNQ1	3784	broad.mit.edu	37	11	2606480	2606480	+	Missense_Mutation	SNP	G	G	T	rs397508074		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:2606480G>T	ENST00000155840.5	+	8	1179	c.1071G>T	c.(1069-1071)caG>caT	p.Q357H	KCNQ1_ENST00000335475.5_Missense_Mutation_p.Q230H	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	357					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGGTGCAGCAGAAGCAGAGGC	0.617																																																0													113	103	107					11																	2606480		2202	4299	6501	SO:0001583	missense	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1071G>T	11.37:g.2606480G>T	ENSP00000155840:p.Gln357His		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	g	16.85	3.236301	0.58886	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99369	-5.78;-5.68	3.84	2.9	0.33743	.	0.109105	0.64402	D	0.000005	D	0.99275	0.9747	M	0.81112	2.525	0.48288	D	0.999628	D;D;P	0.89917	1.0;1.0;0.954	D;D;P	0.83275	0.996;0.99;0.607	D	0.99513	1.0956	10	0.87932	D	0	-25.045	12.5169	0.56038	0.0967:0.0:0.9033:0.0	.	230;230;357	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	H	357;230	ENSP00000155840:Q357H;ENSP00000334497:Q230H	ENSP00000155840:Q357H	Q	+	3	2	KCNQ1	2563056	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.928000	0.56506	0.429000	0.26202	-1.783000	0.00646	CAG		0.617	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		T	2606480	G	T	2606480	3	4	260	1	0	0	0	0	1	0	0	0	8084	933	33	4	1110	4	KCNQ1	11	2606480	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08		2606480	132400036	44	15587											
NLRP14	338323	broad.mit.edu	37	11	7064624	7064624	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:7064624A>C	ENST00000299481.4	+	4	1713	c.1367A>C	c.(1366-1368)gAt>gCt	p.D456A		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	456	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACTCAATCTGATGTCTCTAGT	0.418																																																0													119	123	121					11																	7064624		2201	4296	6497	SO:0001583	missense	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1367A>C	11.37:g.7064624A>C	ENSP00000299481:p.Asp456Ala		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	8.161	0.789565	0.16258	.	.	ENSG00000158077	ENST00000299481	D	0.82711	-1.64	4.34	0.382	0.16234	.	0.423579	0.20116	N	0.098901	T	0.71728	0.3374	L	0.51853	1.615	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.61826	-0.6983	10	0.66056	D	0.02	.	0.6035	0.00748	0.4617:0.1762:0.1922:0.1699	.	456	Q86W24	NAL14_HUMAN	A	456	ENSP00000299481:D456A	ENSP00000299481:D456A	D	+	2	0	NLRP14	7021200	0.987000	0.35691	0.005000	0.12908	0.073000	0.16967	1.314000	0.33597	-0.032000	0.13758	-0.290000	0.09829	GAT		0.418	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		C	7064624	A	C	7064624	3	2	260	1	0	0	0	0	1	0	0	0	10478	333	12	5	1377	5	NLRP14	11	7064624	Missense_Mutation	SNP	A	TCGA-B4-5835-01A-11D-1669-08	4458144	7064624	127941892	45	15588											
ABCC8	6833	broad.mit.edu	37	11	17464293	17464293	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:17464293G>A	ENST00000389817.3	-	10	1672	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000302539.4_Missense_Mutation_p.A535V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	535	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GATGGCAAAGGCCCTGAGGCT	0.602																																																0													103	90	95					11																	17464293		2200	4293	6493	SO:0001583	missense	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1604C>T	11.37:g.17464293G>A	ENSP00000374467:p.Ala535Val		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588973	0.96590	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.89270	-2.49;-2.49	6.02	6.02	0.97574	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.056378	0.64402	D	0.000001	D	0.85124	0.5625	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.26708	0.095;0.157	B;B	0.33121	0.158;0.158	T	0.80415	-0.1392	10	0.45353	T	0.12	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	534;535	B7Z4N0;Q09428	.;ABCC8_HUMAN	V	535;535;549	ENSP00000374467:A535V;ENSP00000303960:A535V	ENSP00000303960:A535V	A	-	2	0	ABCC8	17420869	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.855000	0.99526	2.865000	0.98341	0.655000	0.94253	GCC		0.602	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		A	17464293	G	A	17464293	3	1	260	1	0	0	0	0	1	0	0	0	58	1203	42	2	3261	2	ABCC8	11	17464293	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	10399669	17464293	117542223	46	15589											
XRRA1	143570	broad.mit.edu	37	11	74563054	74563054	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:74563054G>T	ENST00000340360.6	-	13	1551	c.1220C>A	c.(1219-1221)cCt>cAt	p.P407H	XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_Missense_Mutation_p.P132H	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGCCACCAGAGGGTTGTTATG	0.537																																																0													138	137	137					11																	74563054		2005	4173	6178	SO:0001583	missense	143570			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1220C>A	11.37:g.74563054G>T	ENSP00000339918:p.Pro407His			Missense_Mutation	SNP	ENST00000340360.6	37	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720179	0.89205	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418	T;T	0.55760	1.87;0.5	6.07	6.07	0.98685	.	.	.	.	.	T	0.73024	0.3534	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	T	0.74559	-0.3625	9	0.87932	D	0	-7.3285	16.1526	0.81632	0.0:0.0:1.0:0.0	.	407;351;393	Q6P2D8;Q6P2D8-4;Q6P2D8-3	XRRA1_HUMAN;.;.	H	407;132;393;351	ENSP00000339918:P407H;ENSP00000319303:P132H	ENSP00000319303:P132H	P	-	2	0	XRRA1	74240702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.245000	0.65405	2.890000	0.99128	0.585000	0.79938	CCT		0.537	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		T	74563054	G	T	74563054	3	4	260	1	0	0	0	0	1	0	0	0	17466	1000	35	4	1186	4	XRRA1	11	74563054	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	57098761	74563054	60443462	47	15590											
MMP27	64066	broad.mit.edu	37	11	102575298	102575298	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:102575298G>A	ENST00000260229.4	-	2	402	c.311C>T	c.(310-312)cCt>cTt	p.P104L		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	104					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCTCCACCCAGGGAGGGTGTA	0.473																																																0													115	114	115					11																	102575298		2203	4299	6502	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.311C>T	11.37:g.102575298G>A	ENSP00000260229:p.Pro104Leu		Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358309	0.82243	.	.	ENSG00000137675	ENST00000260229	T	0.48201	0.82	5.55	5.55	0.83447	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000017	T	0.50548	0.1622	L	0.36672	1.1	0.80722	D	1	P	0.51791	0.948	P	0.50136	0.632	T	0.35301	-0.9794	10	0.34782	T	0.22	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	104	Q9H306	MMP27_HUMAN	L	104	ENSP00000260229:P104L	ENSP00000260229:P104L	P	-	2	0	MMP27	102080508	0.985000	0.35326	0.877000	0.34402	0.798000	0.45092	3.052000	0.49893	2.894000	0.99253	0.591000	0.81541	CCT		0.473	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		A	102575298	G	A	102575298	3	1	260	1	0	0	0	0	1	0	0	0	9666	1000	35	2	1266	2	MMP27	11	102575298	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	28012244	102575298	32431218	48	15591											
BCL9L	283149	broad.mit.edu	37	11	118771969	118771969	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:118771969A>T	ENST00000334801.3	-	6	3447	c.2483T>A	c.(2482-2484)gTg>gAg	p.V828E	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	828	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCGCCCATCACGCCACTGCT	0.647																																																0													56	56	56					11																	118771969		2200	4295	6495	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2483T>A	11.37:g.118771969A>T	ENSP00000335320:p.Val828Glu		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	A	1.067	-0.670951	0.03403	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.45276	0.9	5.21	5.21	0.72293	.	0.093206	0.46758	D	0.000280	T	0.28566	0.0707	N	0.14661	0.345	0.27148	N	0.961482	B;B	0.23540	0.087;0.052	B;B	0.21151	0.033;0.015	T	0.20638	-1.0269	10	0.46703	T	0.11	-5.8609	14.7683	0.69657	1.0:0.0:0.0:0.0	.	823;828	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	E	828;791;121;828;828	ENSP00000335320:V828E	ENSP00000335320:V828E	V	-	2	0	BCL9L	118277179	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.786000	0.75094	1.957000	0.56846	0.533000	0.62120	GTG		0.647	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		T	118771969	A	T	118771969	3	4	260	1	0	0	0	0	1	0	0	0	1382	159	6	5	2028	5	BCL9L	11	118771969	Missense_Mutation	SNP	A	TCGA-B4-5835-01A-11D-1669-08	16196671	118771969	16234547	49	15592											
VWF	7450	broad.mit.edu	37	12	6094833	6094833	+	Splice_Site	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr12:6094833T>C	ENST00000261405.5	-	39	7053		c.e39-2			NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTCCAGGAACTGAGGGCAAAG	0.627																																																0													44	42	43					12																	6094833		2203	4300	6503	SO:0001630	splice_region_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6799-2A>G	12.37:g.6094833T>C			Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558276	0.65538	.	.	ENSG00000110799	ENST00000261405	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9439	0.64073	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VWF	5965094	1.000000	0.71417	0.993000	0.49108	0.715000	0.41141	6.698000	0.74608	1.900000	0.55004	0.454000	0.30748	.		0.627	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Intron	C	6094833	T	C	6094833	5	2	260	1	0	0	0	0	0	0	1	0	17251	1594	55	3	1700	3	VWF	12	6094833	Splice_Site	SNP	T	TCGA-B4-5835-01A-11D-1669-08		6094833	127757062	50	15593											
R3HDM2	22864	broad.mit.edu	37	12	57648881	57648881	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr12:57648881A>G	ENST00000347140.3	-	24	2996	c.2606T>C	c.(2605-2607)cTg>cCg	p.L869P	R3HDM2_ENST00000546843.1_5'Flank|R3HDM2_ENST00000358907.2_Missense_Mutation_p.L869P|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Missense_Mutation_p.L903P|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000402412.1_Missense_Mutation_p.L883P|R3HDM2_ENST00000441731.2_Missense_Mutation_p.L564P			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	869						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGTCACCTCCAGCACCCGCCC	0.587																																																0													51	50	50					12																	57648881		2203	4300	6503	SO:0001583	missense	22864			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2606T>C	12.37:g.57648881A>G	ENSP00000317903:p.Leu869Pro		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385316	0.82792	.	.	ENSG00000179912	ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T	0.69685	-0.42;0.48;0.51;0.48;-0.34;0.24;0.54	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000002	T	0.77280	0.4107	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.87578	0.995;0.995;0.995;0.998	T	0.78811	-0.2057	10	0.62326	D	0.03	-8.4322	14.5277	0.67900	1.0:0.0:0.0:0.0	.	903;883;869;596	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	P	596;869;883;869;564;634;903	ENSP00000377400:L596P;ENSP00000317903:L869P;ENSP00000385839:L883P;ENSP00000351784:L869P;ENSP00000408536:L564P;ENSP00000394676:L634P;ENSP00000385169:L903P	ENSP00000317903:L869P	L	-	2	0	R3HDM2	55935148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.710000	0.91388	2.326000	0.78906	0.533000	0.62120	CTG		0.587	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		G	57648881	A	G	57648881	3	3	260	1	0	0	0	0	1	0	0	0	12894	188	7	3	328	3	R3HDM2	12	57648881	Missense_Mutation	SNP	A	TCGA-B4-5835-01A-11D-1669-08	51554048	57648881	76203014	51	15594											
PTPRR	5801	broad.mit.edu	37	12	71078029	71078029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr12:71078029C>A	ENST00000283228.2	-	10	1827	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*	PTPRR_ENST00000440835.2_Nonsense_Mutation_p.E214*|PTPRR_ENST00000342084.4_Nonsense_Mutation_p.E347*|PTPRR_ENST00000378778.1_Nonsense_Mutation_p.E253*|PTPRR_ENST00000549308.1_Nonsense_Mutation_p.E214*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	459	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AAGGCTTTCTCCTTGCCACTG	0.443																																																0													98	86	90					12																	71078029		2203	4300	6503	SO:0001587	stop_gained	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1375G>T	12.37:g.71078029C>A	ENSP00000283228:p.Glu459*		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Nonsense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	39	7.495994	0.98319	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	.	.	.	5.71	5.71	0.89125	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.2655	19.4597	0.94912	0.0:1.0:0.0:0.0	.	.	.	.	X	214;459;253;347;214	.	ENSP00000283228:E459X	E	-	1	0	PTPRR	69364296	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	5.503000	0.66962	2.701000	0.92244	0.563000	0.77884	GAG		0.443	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		A	71078029	C	A	71078029	4	1	260	1	0	0	0	0	0	1	0	0	12816	864	30	4	618	4	PTPRR	12	71078029	Nonsense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	13429148	71078029	62773866	52	15595											
C13orf31	144811	broad.mit.edu	37	13	44456457	44456457	+	Silent	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr13:44456457G>T	ENST00000441843.1	+	3	1184	c.699G>T	c.(697-699)gcG>gcT	p.A233A	LACC1_ENST00000325686.6_Silent_p.A233A|CCDC122_ENST00000476570.2_5'Flank|CCDC122_ENST00000444614.3_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	233																	GTAGGTTGGCGAATGCTGCAG	0.338																																																0													82	83	83					13																	44456457		2203	4300	6503	SO:0001819	synonymous_variant	144811			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.699G>T	13.37:g.44456457G>T			A2A3Z6|Q8N8X5	Silent	SNP	ENST00000441843.1	37	CCDS9391.1																																																																																				0.338	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		T	44456457	G	T	44456457	2	4	260	1	0	0	0	0	0	0	0	1	1728	1045	37	4		4	C13orf31	13	44456457	Silent	SNP	G	TCGA-B4-5835-01A-11D-1669-08		44456457	70713421	53	15596											
SLITRK6	84189	broad.mit.edu	37	13	86369824	86369824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr13:86369824C>A	ENST00000400286.2	-	2	1418	c.820G>T	c.(820-822)Gaa>Taa	p.E274*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	274					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCATGTTCTTCATACACTGGT	0.393																																																0													136	121	125					13																	86369824		1919	4137	6056	SO:0001587	stop_gained	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.820G>T	13.37:g.86369824C>A	ENSP00000383143:p.Glu274*		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Nonsense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	41	8.694067	0.98918	.	.	ENSG00000184564	ENST00000400286	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-13.9655	17.8962	0.88888	0.0:1.0:0.0:0.0	.	.	.	.	X	274	.	ENSP00000383143:E274X	E	-	1	0	SLITRK6	85267825	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	4.581000	0.60949	2.827000	0.97445	0.650000	0.86243	GAA		0.393	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		A	86369824	C	A	86369824	4	1	260	1	0	0	0	0	0	1	0	0	14753	835	29	4	1709	4	SLITRK6	13	86369824	Nonsense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	41913367	86369824	28800054	54	15597											
SYNE2	23224	broad.mit.edu	37	14	64445691	64445691	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr14:64445691G>T	ENST00000344113.4	+	14	1740	c.1528G>T	c.(1528-1530)Ggg>Tgg	p.G510W	SYNE2_ENST00000554584.1_Missense_Mutation_p.G510W|SYNE2_ENST00000358025.3_Missense_Mutation_p.G510W|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	510					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CATTAAATATGGGAGCAGAGA	0.358																																																0													122	116	118					14																	64445691		1839	4085	5924	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1528G>T	14.37:g.64445691G>T	ENSP00000341781:p.Gly510Trp		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994960	0.54041	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.63417	0.29;0.29;-0.04	5.94	5.94	0.96194	.	0.000000	0.56097	D	0.000036	T	0.79470	0.4451	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.80294	-0.1443	10	0.87932	D	0	.	18.1434	0.89647	0.0:0.0:1.0:0.0	.	510;510	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	W	510	ENSP00000350719:G510W;ENSP00000341781:G510W;ENSP00000452570:G510W	ENSP00000261678:G510W	G	+	1	0	SYNE2	63515444	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.195000	0.72088	2.812000	0.96745	0.557000	0.71058	GGG		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64445691	G	T	64445691	3	4	260	1	0	0	0	0	1	0	0	0	15451	1348	47	4	1578	4	SYNE2	14	64445691	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08		64445691	42903849	55	15598											
TMOD3	29766	broad.mit.edu	37	15	52161504	52161504	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:52161504C>A	ENST00000308580.7	+	3	498	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	TMOD3_ENST00000544199.1_Missense_Mutation_p.L73M	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	73						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)	p.L73L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		CCTTTCATATCTGGAGAAAGA	0.458																																					Colon(122;1837 2251 18387 22826)											1	Substitution - coding silent(1)	breast(1)											99	99	99					15																	52161504		2195	4293	6488	SO:0001583	missense	29766			AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.217C>A	15.37:g.52161504C>A	ENSP00000308753:p.Leu73Met		B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	ENST00000308580.7	37	CCDS10145.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336603	0.60963	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	T;T	0.46451	0.87;0.87	5.37	2.03	0.26663	.	0.000000	0.64402	D	0.000003	T	0.58906	0.2155	M	0.80508	2.5	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.56486	-0.7971	10	0.49607	T	0.09	-7.2682	5.5547	0.17109	0.0:0.4384:0.0:0.5616	.	73	Q9NYL9	TMOD3_HUMAN	M	73	ENSP00000308753:L73M;ENSP00000438909:L73M	ENSP00000308753:L73M	L	+	1	2	TMOD3	49948796	0.582000	0.26749	0.898000	0.35279	0.797000	0.45037	1.133000	0.31430	0.633000	0.30452	-0.137000	0.14449	CTG		0.458	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			A	52161504	C	A	52161504	3	1	260	1	0	0	0	0	1	0	0	0	16240	912	32	4	223	4	TMOD3	15	52161504	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08		52161504	50369888	56	15599											
HERC1	8925	broad.mit.edu	37	15	63961829	63961829	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:63961829G>T	ENST00000443617.2	-	40	8201	c.8114C>A	c.(8113-8115)tCt>tAt	p.S2705Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2705					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGGTAACGAAGATATTGGAGG	0.458																																																0													153	158	157					15																	63961829		1955	4154	6109	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8114C>A	15.37:g.63961829G>T	ENSP00000390158:p.Ser2705Tyr		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882565	0.72294	.	.	ENSG00000103657	ENST00000443617	T	0.25414	1.8	5.59	5.59	0.84812	.	0.081755	0.50627	D	0.000111	T	0.26195	0.0639	N	0.19112	0.55	0.58432	D	0.999999	P	0.48407	0.91	P	0.46208	0.507	T	0.03249	-1.1056	10	0.72032	D	0.01	.	19.5944	0.95530	0.0:0.0:1.0:0.0	.	2705	Q15751	HERC1_HUMAN	Y	2705	ENSP00000390158:S2705Y	ENSP00000390158:S2705Y	S	-	2	0	HERC1	61748882	1.000000	0.71417	0.984000	0.44739	0.734000	0.41952	9.229000	0.95273	2.627000	0.88993	0.563000	0.77884	TCT		0.458	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	63961829	G	T	63961829	3	4	260	1	0	0	0	0	1	0	0	0	7059	942	33	4	6627	4	HERC1	15	63961829	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	11800325	63961829	38569563	57	15600											
MEGF11	84465	broad.mit.edu	37	15	66249960	66249960	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:66249960C>A	ENST00000409699.2	-	10	1384	c.1212G>T	c.(1210-1212)caG>caT	p.Q404H	MEGF11_ENST00000288745.3_Missense_Mutation_p.Q329H|MEGF11_ENST00000395625.2_Missense_Mutation_p.Q329H|MEGF11_ENST00000360698.4_Missense_Mutation_p.Q404H|MEGF11_ENST00000422354.1_Missense_Mutation_p.Q404H|MEGF11_ENST00000395614.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	404	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAAGGCAGCTGGCAGCCAT	0.617																																																0													51	42	45					15																	66249960		2201	4299	6500	SO:0001583	missense	84465			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1212G>T	15.37:g.66249960C>A	ENSP00000386908:p.Gln404His		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086111	0.55861	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698;ENST00000455812	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	4.87	3.95	0.45737	EGF-like, laminin (2);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.193016	0.25256	U	0.031990	T	0.38427	0.1040	M	0.76727	2.345	0.35861	D	0.827484	B;P	0.44281	0.4;0.831	P;P	0.52881	0.608;0.712	T	0.54125	-0.8340	10	0.72032	D	0.01	.	12.5597	0.56273	0.0:0.9188:0.0:0.0812	.	404;329	A6BM72;A6BM72-2	MEG11_HUMAN;.	H	404;329;404;329;404;108	ENSP00000386908:Q404H;ENSP00000288745:Q329H;ENSP00000414475:Q404H;ENSP00000378987:Q329H;ENSP00000353919:Q404H;ENSP00000401400:Q108H	ENSP00000288745:Q329H	Q	-	3	2	MEGF11	64037014	0.988000	0.35896	1.000000	0.80357	0.727000	0.41649	0.874000	0.28065	1.190000	0.43042	-0.258000	0.10820	CAG		0.617	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		A	66249960	C	A	66249960	3	1	260	1	0	0	0	0	1	0	0	0	9463	796	28	4	1978	4	MEGF11	15	66249960	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	2288131	66249960	36281432	58	15601											
C15orf40	83640	broad.mit.edu	37	15	83657865	83657865	+	Missense_Mutation	SNP	G	G	A	rs150238339		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:83657865G>A	ENST00000304191.3	+	3	316	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Silent_p.G137G	NM_031452.3	NP_113640.1	Q9BTL3	RAM_HUMAN	family with sequence similarity 103, member A1	32	Interaction with RNMT.				7-methylguanosine mRNA capping (GO:0006370)|methylation (GO:0032259)|recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex (GO:0036031)	mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			prostate(1)	1						TACCTGAAACGCCCTCCTGAG	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		15950	0.0		0.001	False		,,,				2504	0.0															0								G	,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	49	51	50		411,95	2.7	1	15	dbSNP_134	50	22,8572	14.6+/-50.1	0,22,4275	no	coding-synonymous,missense	FAM103A1,C15orf40	NM_001160116.1,NM_031452.2	,29	0,23,6476	AA,AG,GG		0.256,0.0227,0.177	,benign	137/150,32/119	83657865	23,12975	2202	4297	6499	SO:0001583	missense	83640			CR597724	CCDS10321.1	15q25.2	2012-06-13			ENSG00000169612	ENSG00000169612			31022	protein-coding gene	gene with protein product	"RNMT-activating mini protein"	614547				22099306	Standard	NM_031452		Approved	HsT19360, C15orf18, MGC2560, RAM	uc002bjl.2	Q9BTL3	OTTHUMG00000147357	ENST00000304191.3:c.95G>A	15.37:g.83657865G>A	ENSP00000307181:p.Arg32His		Q2M1J8	Missense_Mutation	SNP	ENST00000304191.3	37	CCDS10321.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.24	2.773689	0.49786	2.27E-4	0.00256	ENSG00000169612	ENST00000304191	.	.	.	5.71	2.72	0.32119	.	0.058637	0.64402	D	0.000001	T	0.45458	0.1343	L	0.48362	1.52	0.80722	D	1	B	0.31100	0.308	B	0.26202	0.067	T	0.41161	-0.9524	9	0.52906	T	0.07	-2.2431	8.2725	0.31853	0.1376:0.0:0.7362:0.1263	.	32	Q9BTL3	F103A_HUMAN	H	32	.	ENSP00000307181:R32H	R	+	2	0	FAM103A1	81448869	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.913000	0.56394	0.728000	0.32382	0.655000	0.94253	CGC		0.428	FAM103A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304001.1	NM_031452		A	83657865	G	A	83657865	3	1	260	1	0	0	0	0	1	0	0	0	1796	1087	38	1	42	1	C15orf40	15	83657865	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	17407905	83657865	18873527	59	15602											
MSLN	10232	broad.mit.edu	37	16	815130	815130	+	Silent	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:815130G>A	ENST00000382862.3	+	8	626	c.531G>A	c.(529-531)ctG>ctA	p.L177L	MSLN_ENST00000566549.1_Silent_p.L177L|MSLN_ENST00000545450.2_Silent_p.L177L|MSLN_ENST00000563941.1_Silent_p.L177L	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	177					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGTCTCTGCTGAGCGAGGCTG	0.701																																																0													21	20	21					16																	815130		2170	4276	6446	SO:0001819	synonymous_variant	10232			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.531G>A	16.37:g.815130G>A			D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	CCDS32356.1																																																																																				0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			A	815130	G	A	815130	2	1	260	1	0	0	0	0	0	0	0	1	9883	1277	45	2		2	MSLN	16	815130	Silent	SNP	G	TCGA-B4-5835-01A-11D-1669-08		815130	89539623	60	15603											
GP2	2813	broad.mit.edu	37	16	20334206	20334206	+	Missense_Mutation	SNP	C	C	T	rs143098544		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:20334206C>T	ENST00000381362.4	-	5	716	c.640G>A	c.(640-642)Gac>Aac	p.D214N	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.D67N|GP2_ENST00000341642.5_Missense_Mutation_p.D64N|GP2_ENST00000302555.5_Missense_Mutation_p.D211N	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	214	EGF-like.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTATTGAGGTCCTGTCTGCAG	0.577																																																0													98	75	83					16																	20334206		2203	4300	6503	SO:0001583	missense	2813			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.640G>A	16.37:g.20334206C>T	ENSP00000370767:p.Asp214Asn		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	5.202	0.222822	0.09863	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.99409	-5.85;-5.85;-5.85;-5.85	4.88	0.394	0.16299	.	.	.	.	.	D	0.97923	0.9317	L	0.59436	1.845	0.09310	N	1	B;B;B;B	0.20887	0.004;0.049;0.047;0.005	B;B;B;B	0.22880	0.017;0.042;0.021;0.012	D	0.94629	0.7820	9	0.19590	T	0.45	-8.8233	8.7231	0.34452	0.0:0.7148:0.0:0.2852	.	64;192;211;214	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	N	211;214;67;64;192	ENSP00000304044:D211N;ENSP00000370767:D214N;ENSP00000370765:D67N;ENSP00000343861:D64N	ENSP00000304044:D211N	D	-	1	0	GP2	20241707	0.002000	0.14202	0.003000	0.11579	0.301000	0.27625	-0.007000	0.12810	-0.103000	0.12175	-0.302000	0.09304	GAC		0.577	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		T	20334206	C	T	20334206	3	4	260	1	0	0	0	0	1	0	0	0	6584	855	30	2	1005	2	GP2	16	20334206	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	19519076	20334206	70020547	61	15604											
DNAH3	55567	broad.mit.edu	37	16	20999308	20999308	+	Silent	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:20999308A>G	ENST00000261383.3	-	45	6680	c.6681T>C	c.(6679-6681)atT>atC	p.I2227I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2227	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCAGTCAACAATCGAACTGA	0.443																																																0													124	112	116					16																	20999308		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6681T>C	16.37:g.20999308A>G			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.443	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		G	20999308	A	G	20999308	2	3	260	1	0	0	0	0	0	0	0	1	4605	126	5	3		3	DNAH3	16	20999308	Silent	SNP	A	TCGA-B4-5835-01A-11D-1669-08	665102	20999308	69355445	62	15605											
MAZ	4150	broad.mit.edu	37	16	29821427	29821450	+	In_Frame_Del	DEL	GCAGCGGCAGCGGCGGCAGCGGCA	GCAGCGGCAGCGGCGGCAGCGGCA	-	rs370462022|rs374878500|rs372208027|rs530039776|rs368361570|rs368894015|rs372438870|rs370548510|rs75194070|rs201662748|rs199924629	byFrequency	TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:29821427_29821450delGCAGCGGCAGCGGCGGCAGCGGCA	ENST00000322945.6	+	5	1474_1497	c.1309_1332delGCAGCGGCAGCGGCGGCAGCGGCA	c.(1309-1332)gcagcggcagcggcggcagcggcadel	p.AAAAAAAA437del	MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000300797.6_5'Flank|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000562337.1_In_Frame_Del_p.AAAAAAAA132del|MAZ_ENST00000568544.1_In_Frame_Del_p.AAAAAAAA38del|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000545521.1_In_Frame_Del_p.AAAAAAAA414del|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000568282.1_3'UTR|AC009133.15_ENST00000566537.1_RNA|AC009133.14_ENST00000563806.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000563402.1_Splice_Site_p.94_101GSGSGGSG>G|MAZ_ENST00000566906.2_Splice_Site_p.94_99GSGSGG>G	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	437	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AATggcggcggcagcggcagcggcggcagcggcagcagcggcag	0.661																																					Colon(72;875 1167 15364 30899 37091)											0																																										SO:0001651	inframe_deletion	4150			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1309_1332delGCAGCGGCAGCGGCGGCAGCGGCA	16.37:g.29821427_29821450delGCAGCGGCAGCGGCGGCAGCGGCA	ENSP00000313362:p.Ala437_Ala444del		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	In_Frame_Del	DEL	ENST00000322945.6	37	CCDS42143.1																																																																																				0.661	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		-	29821450	GCAGCGGCAGCGGCGGCAGCGGCA	-	29821427	7	5	260	1	0	1	0	1	0	0	0	0	9342	1203	42	0	1534	0	MAZ	16	29821427	In_Frame_Del	DEL	GCAGCGGCAGCGGCGGCAGCGGCA	TCGA-B4-5835-01A-11D-1669-08	8822119	29821427	60533326	63	15606											
ATP6V0D1	9114	broad.mit.edu	37	16	67478511	67478511	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:67478511C>T	ENST00000290949.3	-	3	551	c.401G>A	c.(400-402)aGc>aAc	p.S134N	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.S175N|ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.S57N	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CTGCTCGAAGCTGCCTAGTGG	0.572																																																0													117	79	92					16																	67478511		2198	4300	6498	SO:0001583	missense	9114			X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.401G>A	16.37:g.67478511C>T	ENSP00000290949:p.Ser134Asn		P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396357	0.62177	.	.	ENSG00000159720	ENST00000290949;ENST00000426604;ENST00000540149	T;T	0.30981	1.51;1.51	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.83692	2.655	0.80722	D	1	D;D	0.63046	0.992;0.985	D;D	0.68943	0.961;0.95	T	0.55250	-0.8170	10	0.29301	T	0.29	-32.6492	17.5379	0.87839	0.0:1.0:0.0:0.0	.	175;134	F5GYQ1;P61421	.;VA0D1_HUMAN	N	134;57;175	ENSP00000290949:S134N;ENSP00000441282:S175N	ENSP00000290949:S134N	S	-	2	0	ATP6V0D1	66036012	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.938000	0.70170	2.724000	0.93272	0.561000	0.74099	AGC		0.572	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		T	67478511	C	T	67478511	3	4	260	1	0	0	0	0	1	0	0	0	1173	797	28	2	678	2	ATP6V0D1	16	67478511	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	37657084	67478511	22876242	64	15607											
AOC2	314	broad.mit.edu	37	17	41002100	41002100	+	Splice_Site	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:41002100A>G	ENST00000253799.3	+	4	2033	c.2006A>G	c.(2005-2007)gAt>gGt	p.D669G	AOC2_ENST00000452774.2_Splice_Site_p.D642G|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	669					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.D669V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTCTTGCAGGATCTGGTGGCT	0.562																																																1	Substitution - Missense(1)	NS(1)											101	97	98					17																	41002100		2203	4300	6503	SO:0001630	splice_region_variant	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.2005-1A>G	17.37:g.41002100A>G			A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Splice_Site	SNP	ENST00000253799.3	37	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027459	0.75390	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.15139	2.45;2.45	5.19	4.12	0.48240	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54768	-0.8244	10	0.87932	D	0	-23.4195	10.6541	0.45665	0.9246:0.0:0.0754:0.0	.	669;642	O75106;O75106-2	AOC2_HUMAN;.	G	669;642	ENSP00000253799:D669G;ENSP00000406134:D642G	ENSP00000253799:D669G	D	+	2	0	AOC2	38255626	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.148000	0.71788	0.832000	0.34804	0.459000	0.35465	GAT		0.562	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158	Missense_Mutation	G	41002100	A	G	41002100	5	3	260	1	0	0	0	0	0	0	1	0	727	347	12	3	2020	3	AOC2	17	41002100	Splice_Site	SNP	A	TCGA-B4-5835-01A-11D-1669-08		41002100	40193110	65	15608											
BPTF	2186	broad.mit.edu	37	17	65972039	65972039	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:65972039C>A	ENST00000321892.4	+	29	9130	c.9069C>A	c.(9067-9069)ttC>ttA	p.F3023L	BPTF_ENST00000424123.3_Missense_Mutation_p.F2741L|BPTF_ENST00000335221.5_Missense_Mutation_p.F2880L|RN7SL622P_ENST00000585292.1_RNA|BPTF_ENST00000306378.6_Missense_Mutation_p.F2897L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	3023					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCGAATCATTCTTTGTACAGA	0.383																																																0													98	99	98					17																	65972039		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.9069C>A	17.37:g.65972039C>A	ENSP00000315454:p.Phe3023Leu		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.220199	0.79464	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	T;T;T	0.17054	2.3;2.3;2.3	5.79	5.79	0.91817	.	.	.	.	.	T	0.39911	0.1096	L	0.52364	1.645	0.80722	D	1	B;P;D;D	0.76494	0.03;0.836;0.999;0.999	B;P;D;D	0.76575	0.015;0.484;0.988;0.988	T	0.05131	-1.0904	9	0.72032	D	0.01	-9.3663	20.0206	0.97499	0.0:1.0:0.0:0.0	.	228;701;2897;2880	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	L	2897;2880;3023;228	ENSP00000307208:F2897L;ENSP00000334351:F2880L;ENSP00000315454:F3023L	ENSP00000307208:F2897L	F	+	3	2	BPTF	63402501	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.872000	0.69636	2.731000	0.93534	0.591000	0.81541	TTC		0.383	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		A	65972039	C	A	65972039	3	1	260	1	0	0	0	0	1	0	0	0	1497	912	32	4	9183	4	BPTF	17	65972039	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	24969939	65972039	15223171	66	15609											
ABCA8	10351	broad.mit.edu	37	17	66878093	66878093	+	Missense_Mutation	SNP	C	C	A	rs576031209		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:66878093C>A	ENST00000269080.2	-	29	3874	c.3737G>T	c.(3736-3738)cGc>cTc	p.R1246L	ABCA8_ENST00000430352.2_Missense_Mutation_p.R1286L|ABCA8_ENST00000586539.1_Missense_Mutation_p.R1286L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1246	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATACTCCTTGCGTAGACAGCT	0.408																																																0													138	128	131					17																	66878093		2203	4300	6503	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3737G>T	17.37:g.66878093C>A	ENSP00000269080:p.Arg1246Leu		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261826	0.80358	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.87729	-2.25;-2.29	4.75	4.75	0.60458	ABC transporter-like (1);	0.119358	0.38217	N	0.001764	D	0.83626	0.5295	N	0.20685	0.6	0.41687	D	0.989327	P;P;D	0.58620	0.884;0.721;0.983	P;B;P	0.55112	0.507;0.421;0.769	T	0.81982	-0.0683	10	0.33940	T	0.23	.	10.5856	0.45280	0.0:0.9017:0.0:0.0983	.	1286;1286;1246	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	L	1246;1286	ENSP00000269080:R1246L;ENSP00000402814:R1286L	ENSP00000269080:R1246L	R	-	2	0	ABCA8	64389688	0.059000	0.20769	0.997000	0.53966	0.970000	0.65996	0.843000	0.27640	2.623000	0.88846	0.563000	0.77884	CGC		0.408	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		A	66878093	C	A	66878093	3	1	260	1	0	0	0	0	1	0	0	0	38	768	27	4	1048	4	ABCA8	17	66878093	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	906054	66878093	14317117	67	15610											
SIRT7	51547	broad.mit.edu	37	17	79875967	79875967	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:79875967G>A	ENST00000328666.6	-	1	103	c.41C>T	c.(40-42)gCg>gTg	p.A14V		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	14	Arg-rich.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GACCCGCTCCGCCGCTTTGCG	0.776																																																0													11	14	13					17																	79875967		1639	3504	5143	SO:0001583	missense	51547			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7", "sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.41C>T	17.37:g.79875967G>A	ENSP00000329466:p.Ala14Val		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	37	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587680	0.46110	.	.	ENSG00000187531	ENST00000328666	T	0.30981	1.51	3.51	2.54	0.30619	.	0.928272	0.09056	N	0.855112	T	0.21550	0.0519	L	0.38175	1.15	0.80722	D	1	P	0.35745	0.518	B	0.23716	0.048	T	0.03148	-1.1067	10	0.42905	T	0.14	-8.5118	9.6626	0.39965	0.1047:0.0:0.8953:0.0	.	14	Q9NRC8	SIRT7_HUMAN	V	14	ENSP00000329466:A14V	ENSP00000329466:A14V	A	-	2	0	SIRT7	77469259	0.984000	0.35163	0.295000	0.24960	0.013000	0.08279	1.453000	0.35167	0.679000	0.31345	0.430000	0.28490	GCG		0.776	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		A	79875967	G	A	79875967	3	1	260	1	0	0	0	0	1	0	0	0	14349	1087	38	1	1201	1	SIRT7	17	79875967	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	12997874	79875967	1319243	68	15611											
AZU1	566	broad.mit.edu	37	19	831827	831827	+	Nonsense_Mutation	SNP	C	C	T	rs112572343		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:831827C>T	ENST00000233997.2	+	5	727	c.706C>T	c.(706-708)Cga>Tga	p.R236*		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	236	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCTCTTCCGAGACTGGAT	0.701																																																0													34	39	37					19																	831827		2202	4296	6498	SO:0001587	stop_gained	566			X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.706C>T	19.37:g.831827C>T	ENSP00000233997:p.Arg236*		P80014|Q52LG4|Q9UCM1|Q9UCT5	Nonsense_Mutation	SNP	ENST00000233997.2	37	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781723	0.31502	.	.	ENSG00000172232	ENST00000233997	.	.	.	1.86	0.752	0.18398	.	.	.	.	.	.	.	.	.	.	.	0.42144	D	0.991527	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	5.3808	0.16189	0.3346:0.6654:0.0:0.0	.	.	.	.	X	236	.	ENSP00000233997:R236X	R	+	1	2	AZU1	782827	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.108000	0.10857	0.332000	0.23536	0.555000	0.69702	CGA		0.701	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		T	831827	C	T	831827	4	4	260	1	0	0	0	0	0	1	0	0	1243	644	23	1	724	1	AZU1	19	831827	Nonsense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08		831827	58297156	69	15612											
VAV1	7409	broad.mit.edu	37	19	6853974	6853974	+	Nonsense_Mutation	SNP	T	T	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:6853974T>G	ENST00000602142.1	+	26	2431	c.2349T>G	c.(2347-2349)taT>taG	p.Y783*	VAV1_ENST00000539284.1_Nonsense_Mutation_p.Y686*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.Y751*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.Y761*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.Y728*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	783	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCACAAAGTATTTTGGCACAG	0.527																																																0													97	91	93					19																	6853974		2203	4300	6503	SO:0001587	stop_gained	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2349T>G	19.37:g.6853974T>G	ENSP00000472929:p.Tyr783*		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	T	36	5.843191	0.97016	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.35	-4.65	0.03339	.	0.539029	0.19180	N	0.120714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0678	0.64841	0.0:0.6627:0.0:0.3373	.	.	.	.	X	783;686	.	ENSP00000302269:Y783X	Y	+	3	2	VAV1	6804974	0.627000	0.27129	0.848000	0.33437	0.901000	0.52897	-0.304000	0.08199	-0.976000	0.03542	0.459000	0.35465	TAT		0.527	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			G	6853974	T	G	6853974	4	3	260	1	0	0	0	0	0	1	0	0	17136	1500	52	5	2451	5	VAV1	19	6853974	Nonsense_Mutation	SNP	T	TCGA-B4-5835-01A-11D-1669-08	6022147	6853974	52275009	70	15613											
OR7D2	162998	broad.mit.edu	37	19	9296949	9296949	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:9296949G>A	ENST00000344248.2	+	1	671	c.492G>A	c.(490-492)atG>atA	p.M164I		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	164					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTCTGATGATGCATCTAATCT	0.453																																																0													155	151	152					19																	9296949		2203	4300	6503	SO:0001583	missense	162998			AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.492G>A	19.37:g.9296949G>A	ENSP00000345563:p.Met164Ile		Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	G	6.360	0.434616	0.12045	.	.	ENSG00000188000	ENST00000344248	T	0.00069	8.77	2.1	-3.19	0.05171	GPCR, rhodopsin-like superfamily (1);	1.123280	0.06938	U	0.812354	T	0.00073	0.0002	N	0.12637	0.245	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.12734	-1.0536	10	0.72032	D	0.01	.	3.3843	0.07265	0.4408:0.2116:0.3475:0.0	.	164	Q96RA2	OR7D2_HUMAN	I	164	ENSP00000345563:M164I	ENSP00000345563:M164I	M	+	3	0	OR7D2	9157949	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.316000	0.02710	-0.663000	0.05331	-1.632000	0.00781	ATG		0.453	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			A	9296949	G	A	9296949	3	1	260	1	0	0	0	0	1	0	0	0	11221	1319	46	2	494	2	OR7D2	19	9296949	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	2442975	9296949	49832034	71	15614											
RAVER1	125950	broad.mit.edu	37	19	10431728	10431728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:10431728delG	ENST00000293677.6	-	8	1601	c.1520delC	c.(1519-1521)cctfs	p.P507fs	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCTTACCCCAGGGGGCGTCGG	0.726																																																0													4	5	5					19																	10431728		1673	3740	5413	SO:0001589	frameshift_variant	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1520delC	19.37:g.10431728delG	ENSP00000293677:p.Pro507fs		A6NMU4|Q8IY60|Q8TF24	Frame_Shift_Del	DEL	ENST00000293677.6	37	CCDS45960.1																																																																																				0.726	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		-	10431728	G	-	10431728	7	5	260	1	0	1	0	1	0	0	0	0	13100	1000	35	0	774	0	RAVER1	19	10431728	Frame_Shift_Del	DEL	G	TCGA-B4-5835-01A-11D-1669-08	1134779	10431728	48697255	72	15615											
ANKRD27	84079	broad.mit.edu	37	19	33149883	33149883	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:33149883G>T	ENST00000306065.4	-	2	197	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ANKRD27_ENST00000587352.1_Missense_Mutation_p.F13L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	13					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGCCAGATAGAAAGGATTTT	0.498																																																0													92	87	89					19																	33149883		2203	4300	6503	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.39C>A	19.37:g.33149883G>T	ENSP00000304292:p.Phe13Leu		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114514	0.77210	.	.	ENSG00000105186	ENST00000306065	T	0.73469	-0.75	5.53	4.44	0.53790	.	0.000000	0.56097	D	0.000032	D	0.83073	0.5175	M	0.73962	2.25	0.36236	D	0.852938	D	0.89917	1.0	D	0.83275	0.996	D	0.86369	0.1722	10	0.87932	D	0	-32.648	7.8589	0.29499	0.1732:0.0:0.8268:0.0	.	13	Q96NW4	ANR27_HUMAN	L	13	ENSP00000304292:F13L	ENSP00000304292:F13L	F	-	3	2	ANKRD27	37841723	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.149000	0.42244	2.607000	0.88179	0.573000	0.79308	TTC		0.498	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		T	33149883	G	T	33149883	3	4	260	1	0	0	0	0	1	0	0	0	655	933	33	4	3225	4	ANKRD27	19	33149883	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	22718155	33149883	25979100	73	15616											
PSG7	5676	broad.mit.edu	37	19	43439634	43439634	+	RNA	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:43439634C>A	ENST00000406070.2	-	0	448				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GTGTAGGATCCTGTGTCTTCC	0.458																																																0													340	319	326					19																	43439634		2201	4299	6500			5676					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439634C>A			Q15232	RNA	SNP	ENST00000406070.2	37																																																																																					0.458	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		A	43439634	C	A	43439634	1	1	260	0	1	0	0	0	0	0	0	0	12665	690	24	4		4	PSG7	19	43439634	RNA	SNP	C	TCGA-B4-5835-01A-11D-1669-08	10289751	43439634	15689349	74	15617											
ZSCAN18	65982	broad.mit.edu	37	19	58596705	58596705	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:58596705C>T	ENST00000240727.6	-	7	1279	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E350K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E294K|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E158K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	294					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGGCGGCCTCCTCGCAGGCG	0.736																																																0													6	8	7					19																	58596705		1515	3199	4714	SO:0001583	missense	65982			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.880G>A	19.37:g.58596705C>T	ENSP00000240727:p.Glu294Lys		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285806	0.40394	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02944	4.32;4.1	2.15	2.15	0.27550	.	2.804860	0.01958	N	0.043115	T	0.03095	0.0091	N	0.19112	0.55	0.09310	N	1	P;P;P;B	0.39480	0.588;0.675;0.549;0.225	B;B;B;B	0.36092	0.175;0.122;0.217;0.05	T	0.43228	-0.9404	10	0.41790	T	0.15	0.7273	10.3486	0.43920	0.0:1.0:0.0:0.0	.	350;158;293;294	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	K	350;294;158	ENSP00000240727:E294K;ENSP00000392653:E158K	ENSP00000240727:E294K	E	-	1	0	ZSCAN18	63288517	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.075000	0.11431	1.501000	0.48654	0.561000	0.74099	GAG		0.736	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		T	58596705	C	T	58596705	3	4	260	1	0	0	0	0	1	0	0	0	18235	864	30	2	656	2	ZSCAN18	19	58596705	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	15157071	58596705	532278	75	15618											
TMEM90B	79953	broad.mit.edu	37	20	24523931	24523931	+	Silent	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr20:24523931G>A	ENST00000376862.3	+	2	831	c.198G>A	c.(196-198)agG>agA	p.R66R		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	66					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACAGCAGCAGGAGTGAGCCGA	0.647																																																0													39	41	40					20																	24523931		2203	4300	6503	SO:0001819	synonymous_variant	79953			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.198G>A	20.37:g.24523931G>A			Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	CCDS13164.1																																																																																				0.647	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		A	24523931	G	A	24523931	2	1	260	1	0	0	0	0	0	0	0	1	16224	1165	41	2		2	TMEM90B	20	24523931	Silent	SNP	G	TCGA-B4-5835-01A-11D-1669-08		24523931	38501589	76	15619											
COMMD7	149951	broad.mit.edu	37	20	31292271	31292271	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr20:31292271A>C	ENST00000278980.6	-	7	1053	c.448T>G	c.(448-450)Ttg>Gtg	p.L150V	COMMD7_ENST00000446419.2_Missense_Mutation_p.L149V	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	150	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)			breast(1)|endometrium(1)|lung(3)	5						ACTTTCTCCAATTCGCTGCTC	0.373																																																0													52	49	50					20																	31292271		1822	4082	5904	SO:0001583	missense	149951			AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 92"	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.448T>G	20.37:g.31292271A>C	ENSP00000278980:p.Leu150Val		A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Missense_Mutation	SNP	ENST00000278980.6	37	CCDS42864.1	.	.	.	.	.	.	.	.	.	.	a	8.088	0.773947	0.16051	.	.	ENSG00000149600	ENST00000278980;ENST00000446419	T;T	0.11063	2.81;2.81	5.26	-2.83	0.05769	COMM domain (1);	0.273852	0.30410	N	0.009695	T	0.09642	0.0237	L	0.45228	1.405	0.35692	D	0.814898	B;B	0.33637	0.2;0.42	B;B	0.36378	0.061;0.223	T	0.10268	-1.0637	10	0.21014	T	0.42	.	15.0008	0.71469	0.1198:0.0:0.8802:0.0	.	149;150	Q86VX2-2;Q86VX2	.;COMD7_HUMAN	V	150;149	ENSP00000278980:L150V;ENSP00000395339:L149V	ENSP00000278980:L150V	L	-	1	2	COMMD7	30755932	0.988000	0.35896	0.757000	0.31301	0.181000	0.23173	-0.006000	0.12833	-0.783000	0.04534	-1.172000	0.01736	TTG		0.373	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078648.2	NM_053041		C	31292271	A	C	31292271	3	2	260	1	0	0	0	0	1	0	0	0	3723	98	4	5	166	5	COMMD7	20	31292271	Missense_Mutation	SNP	A	TCGA-B4-5835-01A-11D-1669-08	6768340	31292271	31733249	77	15620											
HSF2BP	11077	broad.mit.edu	37	21	45076580	45076580	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr21:45076580C>A	ENST00000291560.2	-	3	406	c.75G>T	c.(73-75)aaG>aaT	p.K25N	RRP1B_ENST00000340648.4_5'Flank|HSF2BP_ENST00000542962.1_Intron	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	25					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CCAGATCCTTCTTTCTGACTT	0.383																																																0													160	153	156					21																	45076580		2203	4300	6503	SO:0001583	missense	11077			AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.75G>T	21.37:g.45076580C>A	ENSP00000291560:p.Lys25Asn		B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649968	0.67472	.	.	ENSG00000160207	ENST00000291560;ENST00000443485	.	.	.	5.32	4.43	0.53597	.	0.050727	0.85682	D	0.000000	T	0.55970	0.1954	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.58092	-0.7697	9	0.72032	D	0.01	-9.8127	8.8475	0.35179	0.0:0.8367:0.0:0.1633	.	25	O75031	HSF2B_HUMAN	N	25	.	ENSP00000291560:K25N	K	-	3	2	HSF2BP	43901008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.035000	0.30216	2.483000	0.83821	0.655000	0.94253	AAG		0.383	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		A	45076580	C	A	45076580	3	1	260	1	0	0	0	0	1	0	0	0	7399	912	32	4	957	4	HSF2BP	21	45076580	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08		45076580	3053315	78	15621											
BIK	638	broad.mit.edu	37	22	43525235	43525252	+	In_Frame_Del	DEL	TGCTGCTGGCGCTGCTGC	TGCTGCTGGCGCTGCTGC	-	rs140238366|rs201004577|rs542081559	byFrequency	TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr22:43525235_43525252delTGCTGCTGGCGCTGCTGC	ENST00000216115.2	+	5	470_487	c.407_424delTGCTGCTGGCGCTGCTGC	c.(406-426)gtgctgctggcgctgctgctg>gtg	p.LLALLL143del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	143	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				TGCGAACAGGtgctgctggcgctgctgctgctgctggc	0.711																																																0																																										SO:0001651	inframe_deletion	638			U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.407_424delTGCTGCTGGCGCTGCTGC	22.37:g.43525235_43525252delTGCTGCTGGCGCTGCTGC	ENSP00000216115:p.Leu143_Leu148del		Q16582|Q6FH93	In_Frame_Del	DEL	ENST00000216115.2	37	CCDS14044.1																																																																																				0.711	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		-	43525252	TGCTGCTGGCGCTGCTGC	-	43525235	7	5	260	1	0	1	0	1	0	0	0	0	1431	1696	59	0	421	0	BIK	22	43525235	In_Frame_Del	DEL	TGCTGCTGGCGCTGCTGC	TCGA-B4-5835-01A-11D-1669-08		43525235	7779331	79	15622											
CELSR1	9620	broad.mit.edu	37	22	46792575	46792575	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr22:46792575G>A	ENST00000262738.3	-	13	5769	c.5770C>T	c.(5770-5772)Cgc>Tgc	p.R1924C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1924	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.R1924C(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGGGGGAGCGCACGCAGGCC	0.627																																																1	Substitution - Missense(1)	endometrium(1)											44	38	40					22																	46792575		2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5770C>T	22.37:g.46792575G>A	ENSP00000262738:p.Arg1924Cys		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897328	0.52121	.	.	ENSG00000075275	ENST00000262738	D	0.91894	-2.93	4.45	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.160055	0.42172	U	0.000748	D	0.95799	0.8633	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.67231	0.95;0.836	D	0.96480	0.9355	10	0.72032	D	0.01	.	17.0745	0.86582	0.0:0.0:1.0:0.0	.	245;1924	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	C	1924	ENSP00000262738:R1924C	ENSP00000262738:R1924C	R	-	1	0	CELSR1	45171239	0.997000	0.39634	0.591000	0.28745	0.033000	0.12548	5.985000	0.70556	2.205000	0.71048	0.561000	0.74099	CGC		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46792575	G	A	46792575	3	1	260	1	0	0	0	0	1	0	0	0	3223	1087	38	1	3366	1	CELSR1	22	46792575	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	3267340	46792575	4511991	80	15623											
TLR8	51311	broad.mit.edu	37	X	12938993	12938993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:12938993G>T	ENST00000218032.6	+	2	1921	c.1834G>T	c.(1834-1836)Gaa>Taa	p.E612*	TLR8_ENST00000311912.5_Nonsense_Mutation_p.E630*	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	612					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTCCCTGGTAGAATTAGTTTT	0.343																																																0													56	56	56					X																	12938993		2202	4299	6501	SO:0001587	stop_gained	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1834G>T	X.37:g.12938993G>T	ENSP00000218032:p.Glu612*		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Nonsense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762649	0.89932	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	.	.	.	5.82	5.82	0.92795	.	0.000000	0.41938	D	0.000788	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.872	0.52525	0.1328:0.0:0.8672:0.0	.	.	.	.	X	612;630	.	ENSP00000218032:E612X	E	+	1	0	TLR8	12848914	0.858000	0.29795	0.758000	0.31321	0.097000	0.18754	2.450000	0.44943	2.467000	0.83353	0.600000	0.82982	GAA		0.343	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		T	12938993	G	T	12938993	4	4	260	1	0	0	0	0	0	1	0	0	15962	943	33	4	1840	4	TLR8	23	12938993	Nonsense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08		12938993	142331567	81	15624											
ACE2	59272	broad.mit.edu	37	X	15618974	15618974	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:15618974T>C	ENST00000252519.3	-	1	163	c.61A>G	c.(61-63)Att>Gtt	p.I21V	ACE2_ENST00000427411.1_Missense_Mutation_p.I21V|GS1-594A7.3_ENST00000421585.1_RNA			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	21					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TGTTCCTCAATGGTGGACTGA	0.453																																																0													126	101	110					X																	15618974		2203	4300	6503	SO:0001583	missense	59272			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.61A>G	X.37:g.15618974T>C	ENSP00000252519:p.Ile21Val		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.803387	0.00611	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.32515	1.45;1.45	5.71	-3.5	0.04710	.	0.965526	0.08652	N	0.913863	T	0.15825	0.0381	N	0.17594	0.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27123	-1.0083	10	0.33141	T	0.24	-0.1866	7.2163	0.25961	0.0:0.2035:0.4777:0.3188	.	21	Q9BYF1	ACE2_HUMAN	V	21	ENSP00000252519:I21V;ENSP00000389326:I21V	ENSP00000252519:I21V	I	-	1	0	ACE2	15528895	0.003000	0.15002	0.000000	0.03702	0.148000	0.21650	1.305000	0.33493	-0.640000	0.05495	-0.377000	0.06932	ATT		0.453	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			C	15618974	T	C	15618974	3	2	260	1	0	0	0	0	1	0	0	0	137	1464	51	3	2428	3	ACE2	23	15618974	Missense_Mutation	SNP	T	TCGA-B4-5835-01A-11D-1669-08	2679981	15618974	139651586	82	15625											
PPEF1	5475	broad.mit.edu	37	X	18822154	18822154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:18822154G>T	ENST00000361511.4	+	14	1704	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	PPEF1_ENST00000359763.6_Nonsense_Mutation_p.E351*|PPEF1_ENST00000544635.1_Nonsense_Mutation_p.E339*|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000349874.5_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	404	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.E404*(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CAGGTCTCATGAATGTAAGCC	0.418																																																1	Substitution - Nonsense(1)	large_intestine(1)											113	103	106					X																	18822154		2203	4300	6503	SO:0001587	stop_gained	5475			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1210G>T	X.37:g.18822154G>T	ENSP00000354871:p.Glu404*		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Nonsense_Mutation	SNP	ENST00000361511.4	37	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	39	7.693558	0.98438	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000544635	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.5868	18.2534	0.90011	0.0:0.0:1.0:0.0	.	.	.	.	X	404;351;339	.	ENSP00000352806:E351X	E	+	1	0	PPEF1	18732075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.248000	0.74166	0.594000	0.82650	GAA		0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		T	18822154	G	T	18822154	4	4	260	1	0	0	0	0	0	1	0	0	12309	1291	45	4	1252	4	PPEF1	23	18822154	Nonsense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	3203180	18822154	136448406	83	15626											
CXorf22	170063	broad.mit.edu	37	X	35993323	35993323	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:35993323C>A	ENST00000297866.5	+	14	2380	c.2314C>A	c.(2314-2316)Cat>Aat	p.H772N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	772										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCATCTACTTCATGTTATTAA	0.328																																																0													106	96	99					X																	35993323		2202	4295	6497	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2314C>A	X.37:g.35993323C>A	ENSP00000297866:p.His772Asn		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417679	0.25552	.	.	ENSG00000165164	ENST00000297866	T	0.14266	2.52	5.52	4.63	0.57726	.	0.328662	0.34110	N	0.004259	T	0.17066	0.0410	M	0.74881	2.28	0.18873	N	0.999983	P	0.39624	0.681	B	0.37692	0.256	T	0.12863	-1.0531	10	0.17369	T	0.5	-21.6444	12.1871	0.54245	0.1717:0.8283:0.0:0.0	.	772	Q6ZTR5	CX022_HUMAN	N	772	ENSP00000297866:H772N	ENSP00000297866:H772N	H	+	1	0	CXorf22	35903244	0.989000	0.36119	0.058000	0.19502	0.046000	0.14306	3.189000	0.50965	1.030000	0.39839	0.544000	0.68410	CAT		0.328	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		A	35993323	C	A	35993323	3	1	260	1	0	0	0	0	1	0	0	0	4104	826	29	4	2368	4	CXorf22	23	35993323	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	17171169	35993323	119277237	84	15627											
FAM123B	139285	broad.mit.edu	37	X	63410669	63410669	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:63410669T>A	ENST00000330258.3	-	2	2770	c.2498A>T	c.(2497-2499)gAt>gTt	p.D833V	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	833					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GGCTGCAAGATCTTCATCATT	0.522																																																67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											40	41	40					X																	63410669		2190	4282	6472	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2498A>T	X.37:g.63410669T>A	ENSP00000329117:p.Asp833Val		A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999332	0.35226	.	.	ENSG00000184675	ENST00000330258	T	0.54675	0.56	4.43	3.23	0.37069	.	.	.	.	.	T	0.22820	0.0551	N	0.03608	-0.345	0.80722	D	1	B	0.19583	0.037	B	0.17979	0.02	T	0.03641	-1.1017	8	.	.	.	-1.5499	4.0695	0.09876	0.1856:0.1003:0.0:0.7141	.	833	Q5JTC6	F123B_HUMAN	V	833	ENSP00000329117:D833V	.	D	-	2	0	FAM123B	63327394	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	3.889000	0.56212	0.642000	0.30620	0.430000	0.28490	GAT		0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		A	63410669	T	A	63410669	3	1	260	1	0	0	0	0	1	0	0	0	5425	1435	50	5	913	5	FAM123B	23	63410669	Missense_Mutation	SNP	T	TCGA-B4-5835-01A-11D-1669-08	27417346	63410669	91859891	85	15628											
PCDH11X	27328	broad.mit.edu	37	X	91133613	91133613	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:91133613G>A	ENST00000373094.1	+	2	3219	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A792T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A792T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A792T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A792T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A792T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	792	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGCACTGAAGCACCAGTGAC	0.458																																					NSCLC(38;925 1092 2571 38200 45895)											0													184	149	161					X																	91133613		2203	4300	6503	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2374G>A	X.37:g.91133613G>A	ENSP00000362186:p.Ala792Thr		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.905712	0.00057	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.15	-7.37	0.01412	Protocadherin (1);Cadherin (1);	0.540138	0.20301	N	0.095024	T	0.05731	0.0150	N	0.02345	-0.59	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.09377	0.002;0.001;0.002;0.002;0.002;0.004;0.002;0.002	T	0.28396	-1.0045	10	0.02654	T	1	.	1.7682	0.03006	0.3195:0.112:0.3471:0.2214	.	792;792;792;792;792;792;792;792	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	792	ENSP00000378746:A792T;ENSP00000362186:A792T;ENSP00000362189:A792T;ENSP00000355040:A792T;ENSP00000362180:A792T;ENSP00000423762:A792T;ENSP00000355105:A792T;ENSP00000384758:A792T;ENSP00000298274:A792T	ENSP00000298274:A792T	A	+	1	0	PCDH11X	91020269	0.967000	0.33354	0.000000	0.03702	0.000000	0.00434	1.403000	0.34612	-1.869000	0.01141	-1.210000	0.01631	GCA		0.458	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91133613	G	A	91133613	3	1	260	1	0	0	0	0	1	0	0	0	11510	971	34	2	2380	2	PCDH11X	23	91133613	Missense_Mutation	SNP	G	TCGA-B4-5835-01A-11D-1669-08	27722944	91133613	64136947	86	15629											
CDR1	1038	broad.mit.edu	37	X	139865791	139865791	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:139865791C>G	ENST00000370532.2	-	1	932	c.741G>C	c.(739-741)tgG>tgC	p.W247C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	247										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGGTCTTCCAGTCAATCA	0.423																																																0													103	102	102					X																	139865791		2203	4300	6503	SO:0001583	missense	1038				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.741G>C	X.37:g.139865791C>G	ENSP00000359563:p.Trp247Cys		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164935	0.38217	.	.	ENSG00000184258	ENST00000370532	.	.	.	3.99	3.1	0.35709	.	.	.	.	.	T	0.43478	0.1249	N	0.08118	0	0.42438	D	0.992706	D	0.69078	0.997	P	0.57468	0.821	T	0.27806	-1.0063	7	.	.	.	.	10.9871	0.47528	0.0:0.812:0.188:0.0	.	247	P51861	CDR1_HUMAN	C	247	.	.	W	-	3	0	CDR1	139693457	0.793000	0.28825	0.151000	0.22473	0.002000	0.02628	2.637000	0.46553	0.771000	0.33359	-0.343000	0.07986	TGG		0.423	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		G	139865791	C	G	139865791	3	3	260	1	0	0	0	0	1	0	0	0	3173	856	30	4	51	4	CDR1	23	139865791	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	48732178	139865791	15404769	87	15630											
PDZD4	57595	broad.mit.edu	37	X	153070051	153070051	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:153070051C>T	ENST00000164640.4	-	8	1258	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	PDZD4_ENST00000544474.1_Missense_Mutation_p.R247H|PDZD4_ENST00000393758.2_Missense_Mutation_p.R281H|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	356						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACGGTAGCGCTCATACTC	0.672																																																0													43	38	40					X																	153070051		2202	4300	6502	SO:0001583	missense	57595			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1067G>A	X.37:g.153070051C>T	ENSP00000164640:p.Arg356His		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994630	0.54041	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.06849	3.25;3.27;3.48	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	M	0.66297	2.02	0.54753	D	0.999986	D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.991;0.701;0.997;0.999;0.996	T	0.01127	-1.1443	10	0.59425	D	0.04	-28.528	16.4277	0.83824	0.0:1.0:0.0:0.0	.	247;362;356;281;260	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	H	356;281;260;247	ENSP00000164640:R356H;ENSP00000377355:R281H;ENSP00000442033:R247H	ENSP00000164640:R356H	R	-	2	0	PDZD4	152723245	0.991000	0.36638	1.000000	0.80357	0.353000	0.29299	3.819000	0.55686	2.134000	0.65973	0.529000	0.55759	CGC		0.672	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		T	153070051	C	T	153070051	3	4	260	1	0	0	0	0	1	0	0	0	11705	768	27	1	1246	1	PDZD4	23	153070051	Missense_Mutation	SNP	C	TCGA-B4-5835-01A-11D-1669-08	13204260	153070051	2200509	88	15631											
DFFB	1677	broad.mit.edu	37	1	3789056	3789056	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:3789056C>A	ENST00000378209.3	+	6	1025	c.702C>A	c.(700-702)agC>agA	p.S234R	DFFB_ENST00000338895.3_Missense_Mutation_p.S234R	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	234					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ACATGGACAGCTGCTTATCAA	0.502																																																0													109	102	104					1																	3789056		2203	4300	6503	SO:0001583	missense	1677				CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.702C>A	1.37:g.3789056C>A	ENSP00000367454:p.Ser234Arg		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000378209.3	37	CCDS52.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575613	0.45902	.	.	ENSG00000169598	ENST00000378209;ENST00000338895;ENST00000339350;ENST00000378206	T;T	0.30981	1.51;1.51	4.39	3.22	0.36961	Apoptosis, DNA fragmentation factor 40kDa (1);	1.724420	0.02557	N	0.096355	T	0.36496	0.0969	L	0.41710	1.295	0.80722	D	1	P;P;P	0.49090	0.919;0.893;0.919	P;P;B	0.48141	0.568;0.46;0.392	T	0.38457	-0.9660	10	0.21014	T	0.42	-8.765	11.9747	0.53085	0.0:0.8927:0.0:0.1073	.	258;170;234	B4DZS0;Q5SR21;O76075	.;.;DFFB_HUMAN	R	234;234;170;170	ENSP00000367454:S234R;ENSP00000339524:S234R	ENSP00000339524:S234R	S	+	3	2	DFFB	3778916	0.518000	0.26234	0.131000	0.22000	0.983000	0.72400	0.823000	0.27366	1.996000	0.58369	0.449000	0.29647	AGC		0.502	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	NM_001282669		A	3789056	C	A	3789056	3	1	261	1	0	0	0	0	1	0	0	0	4455	796	28	4	724	4	DFFB	1	3789056	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08		3789056	245461565	1	15632											
MTOR	2475	broad.mit.edu	37	1	11217289	11217289	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:11217289A>G	ENST00000361445.4	-	30	4465	c.4389T>C	c.(4387-4389)taT>taC	p.Y1463Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1463	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTTTCTTGTCATAGGCCACAA	0.537																																																0													175	145	155					1																	11217289		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4389T>C	1.37:g.11217289A>G			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	CCDS127.1																																																																																				0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11217289	A	G	11217289	2	3	261	1	0	0	0	0	0	0	0	1	9956	224	8	3		3	MTOR	1	11217289	Silent	SNP	A	TCGA-B4-5836-01A-11D-1669-08	7428233	11217289	238033332	2	15633			1	25		2	2	16	N	A_-	5.184523e-05
MTOR	2475	broad.mit.edu	37	1	11217304	11217305	+	In_Frame_Ins	INS	-	-	TCCTCCCAC			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:11217304_11217305insTCCTCCCAC	ENST00000361445.4	-	30	4449_4450	c.4373_4374insGTGGGAGGA	c.(4372-4374)gat>gaGTGGGAGGAt	p.1457_1458insEWE		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1457	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCACAAGGGCATCCTCCCACTC	0.54																																																0																																										SO:0001652	inframe_insertion	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4365_4373dupGTGGGAGGA	1.37:g.11217305_11217313dupTCCTCCCAC	ENSP00000354558:p.Glu1455_Glu1457dup		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	In_Frame_Ins	INS	ENST00000361445.4	37	CCDS127.1																																																																																				0.54	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		TCCTCCCAC	11217305	-	TCCTCCCAC	11217304	7	5	261	1	0	1	1	0	0	0	0	0	9956	214	8	0	3391	0	MTOR	1	11217304	In_Frame_Ins	INS	-	TCGA-B4-5836-01A-11D-1669-08	15	11217304	238033317	3	15634			1	25		2	2	16	N	A_-	5.184523e-05
VPS13D	55187	broad.mit.edu	37	1	12336924	12336926	+	In_Frame_Del	DEL	GAT	GAT	-	rs144696813	byFrequency	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:12336924_12336926delGAT	ENST00000358136.3	+	19	3409_3411	c.3279_3281delGAT	c.(3277-3282)tcgatg>tcg	p.M1094del	VPS13D_ENST00000356315.4_In_Frame_Del_p.M1094del	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTGCCCATCGATGAATTTAGAC	0.379																																																0																																										SO:0001651	inframe_deletion	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3279_3281delGAT	1.37:g.12336924_12336926delGAT	ENSP00000350854:p.Met1094del			In_Frame_Del	DEL	ENST00000358136.3	37	CCDS30588.1																																																																																				0.379	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		-	12336926	GAT	-	12336924	7	5	261	1	0	1	0	1	0	0	0	0	17197	1045	37	0	3349	0	VPS13D	1	12336924	In_Frame_Del	DEL	GAT	TCGA-B4-5836-01A-11D-1669-08	1119620	12336924	236913697	4	15635											
ZBTB8OS	5928	broad.mit.edu	37	1	33116038	33116038	+	5'Flank	SNP	G	G	T	rs368780988		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:33116038G>T	ENST00000373493.5	+	0	0				RBBP4_ENST00000414241.3_5'Flank|ZBTB8OS_ENST00000468695.1_Nonsense_Mutation_p.Y43*|RBBP4_ENST00000458695.2_5'Flank|RBBP4_ENST00000544435.1_5'Flank|ZBTB8OS_ENST00000373501.2_Nonsense_Mutation_p.Y31*|ZBTB8OS_ENST00000341885.5_Nonsense_Mutation_p.Y43*|ZBTB8OS_ENST00000492007.1_5'UTR|RBBP4_ENST00000373485.1_5'Flank	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACTCACACTCGTACTTCCTAT	0.498																																																0													219	159	180					1																	33116038		2203	4300	6503	SO:0001631	upstream_gene_variant	339487			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998		1.37:g.33116038G>T	Exception_encountered		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Nonsense_Mutation	SNP	ENST00000373493.5	37	CCDS366.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477819	0.96291	.	.	ENSG00000176261	ENST00000341885;ENST00000468695;ENST00000373501	.	.	.	5.66	1.11	0.20524	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7222	8.9617	0.35851	0.34:0.0:0.66:0.0	.	.	.	.	X	43;43;31	.	ENSP00000343760:Y43X	Y	-	3	2	ZBTB8OS	32888625	0.775000	0.28604	0.998000	0.56505	0.950000	0.60333	-0.091000	0.11146	0.014000	0.14944	0.655000	0.94253	TAC		0.498	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		T	33116038	G	T	33116038	1	4	261	0	1	0	0	0	0	0	0	0	17562	1140	40	4		4	ZBTB8OS	1	33116038	5'Flank	SNP	G	TCGA-B4-5836-01A-11D-1669-08	20779114	33116038	216134583	5	15636											
COL9A2	1298	broad.mit.edu	37	1	40768483	40768484	+	Splice_Site	INS	-	-	GGAG	rs3831927|rs547665409|rs369338511|rs144651070|rs563535301	byFrequency	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:40768483_40768484insGGAG	ENST00000372748.3	-	30	1700		c.e30-2		COL9A2_ENST00000466267.1_Splice_Site	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGTTGCTCTggagggaggga	0.649																																																0																																										SO:0001630	splice_region_variant	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1604-2->CTCC	1.37:g.40768488_40768491dupGGAG			B2RMP9	Splice_Site	INS	ENST00000372748.3	37	CCDS450.1																																																																																				0.649	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Intron	GGAG	40768484	-	GGAG	40768483	8	5	261	1	0	1	1	0	0	0	1	0	3710	1594	55	0	479	0	COL9A2	1	40768483	Splice_Site	INS	-	TCGA-B4-5836-01A-11D-1669-08	7652445	40768483	208482138	6	15637											
UROD	7389	broad.mit.edu	37	1	45479706	45479706	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:45479706C>T	ENST00000246337.4	+	6	719	c.600C>T	c.(598-600)gtC>gtT	p.V200V	UROD_ENST00000494399.1_3'UTR|HECTD3_ENST00000372172.4_5'Flank	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	200					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					ATGCTCTGGTCCCATATCTGG	0.557									Porphyria Cutanea Tarda, Type II																																							0													87	90	89					1																	45479706		2203	4300	6503	SO:0001819	synonymous_variant	7389	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.600C>T	1.37:g.45479706C>T			A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Silent	SNP	ENST00000246337.4	37	CCDS518.1																																																																																				0.557	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		T	45479706	C	T	45479706	2	4	261	1	0	0	0	0	0	0	0	1	17034	842	30	2		2	UROD	1	45479706	Silent	SNP	C	TCGA-B4-5836-01A-11D-1669-08	4711223	45479706	203770915	7	15638											
FLG	2312	broad.mit.edu	37	1	152277450	152277450	+	Silent	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:152277450G>T	ENST00000368799.1	-	3	9947	c.9912C>A	c.(9910-9912)tcC>tcA	p.S3304S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3304	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGTGGCGGGATCCGTGTC	0.567									Ichthyosis																																							0													381	374	376					1																	152277450		2203	4300	6503	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9912C>A	1.37:g.152277450G>T			Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152277450	G	T	152277450	2	4	261	1	0	0	0	0	0	0	0	1	5924	1219	43	4		4	FLG	1	152277450	Silent	SNP	G	TCGA-B4-5836-01A-11D-1669-08	106797744	152277450	96973171	8	15639											
C1orf25	81627	broad.mit.edu	37	1	185112523	185112523	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:185112523delT	ENST00000367506.5	-	7	1093	c.825delA	c.(823-825)aaafs	p.K275fs	TRMT1L_ENST00000367504.3_Frame_Shift_Del_p.K119fs	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	275	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ATTCCAAAGGTTTTCGTTCCT	0.358																																																0													97	106	103					1																	185112523		2203	4300	6503	SO:0001589	frameshift_variant	81627			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.825delA	1.37:g.185112523delT	ENSP00000356476:p.Lys275fs		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Frame_Shift_Del	DEL	ENST00000367506.5	37	CCDS1366.1																																																																																				0.358	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		-	185112523	T	-	185112523	7	5	261	1	0	1	0	1	0	0	0	0	2036	1722	60	0	1412	0	C1orf25	1	185112523	Frame_Shift_Del	DEL	T	TCGA-B4-5836-01A-11D-1669-08	32835073	185112523	64138098	9	15640											
YOD1	55432	broad.mit.edu	37	1	207222971	207222971	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:207222971A>G	ENST00000315927.4	-	2	487	c.441T>C	c.(439-441)ccT>ccC	p.P147P	YOD1_ENST00000391927.1_Silent_p.P103P|PFKFB2_ENST00000411990.2_Intron|YOD1_ENST00000367084.1_Silent_p.P103P	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	147					cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TGGTAAGCACAGGCAAAGTTT	0.493																																																0													70	61	64					1																	207222971		2203	4300	6503	SO:0001819	synonymous_variant	55432				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.441T>C	1.37:g.207222971A>G			B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Silent	SNP	ENST00000315927.4	37	CCDS31002.1																																																																																				0.493	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		G	207222971	A	G	207222971	2	3	261	1	0	0	0	0	0	0	0	1	17493	175	7	3		3	YOD1	1	207222971	Silent	SNP	A	TCGA-B4-5836-01A-11D-1669-08	22110448	207222971	42027650	10	15641											
CAMK1G	57172	broad.mit.edu	37	1	209781277	209781277	+	Splice_Site	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:209781277T>C	ENST00000009105.1	+	7	879	c.634T>C	c.(634-636)Ttg>Ctg	p.L212L	CAMK1G_ENST00000361322.2_Splice_Site_p.L212L|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CACCTACATATTGTGAGTAGA	0.577																																					Ovarian(163;530 1939 9680 28669 48710)											0													110	100	104					1																	209781277		2203	4300	6503	SO:0001630	splice_region_variant	57172				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.635+1T>C	1.37:g.209781277T>C			Q86UH5|Q9Y3J7	Splice_Site	SNP	ENST00000009105.1	37	CCDS1486.1																																																																																				0.577	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439	Silent	C	209781277	T	C	209781277	5	2	261	1	0	0	0	0	0	0	1	0	2600	1507	52	3	656	3	CAMK1G	1	209781277	Splice_Site	SNP	T	TCGA-B4-5836-01A-11D-1669-08	2558306	209781277	39469344	11	15642											
IRF2BP2	359948	broad.mit.edu	37	1	234742916	234742916	+	Silent	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:234742916T>A	ENST00000366609.3	-	2	1761	c.1731A>T	c.(1729-1731)ggA>ggT	p.G577G	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Silent_p.G561G	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CTTTCACATCTCCAGCAAGGA	0.433																																																0													94	112	106					1																	234742916		2201	4299	6500	SO:0001819	synonymous_variant	359948			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1731A>T	1.37:g.234742916T>A			B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Silent	SNP	ENST00000366609.3	37	CCDS1602.1																																																																																				0.433	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		A	234742916	T	A	234742916	2	1	261	1	0	0	0	0	0	0	0	1	7832	1538	54	5		5	IRF2BP2	1	234742916	Silent	SNP	T	TCGA-B4-5836-01A-11D-1669-08	24961639	234742916	14507705	12	15643											
OR2M2	391194	broad.mit.edu	37	1	248343458	248343458	+	Silent	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr1:248343458C>A	ENST00000359682.2	+	1	171	c.171C>A	c.(169-171)acC>acA	p.T57T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCTCCACACCCCCATGTACT	0.532																																																0													313	298	303					1																	248343458		2203	4298	6501	SO:0001819	synonymous_variant	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.171C>A	1.37:g.248343458C>A			A3KFT4	Silent	SNP	ENST00000359682.2	37	CCDS31106.1																																																																																				0.532	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		A	248343458	C	A	248343458	2	1	261	1	0	0	0	0	0	0	0	1	11012	610	22	4		4	OR2M2	1	248343458	Silent	SNP	C	TCGA-B4-5836-01A-11D-1669-08	13600542	248343458	907163	13	15644											
DNMT3A	1788	broad.mit.edu	37	2	25463523	25463523	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:25463523C>G	ENST00000264709.3	-	18	2496	c.2159G>C	c.(2158-2160)cGc>cCc	p.R720P	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R720P|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R531P|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R497P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	720	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGCCCTTGCGAGCAGGGTT	0.577			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													143	119	127					2																	25463523		2203	4300	6503	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2159G>C	2.37:g.25463523C>G	ENSP00000264709:p.Arg720Pro		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751517	0.69533	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	M	0.90977	3.165	0.80722	D	1	D;D	0.67145	0.985;0.996	P;P	0.62491	0.903;0.778	D	0.98922	1.0784	10	0.87932	D	0	-8.5168	12.4181	0.55504	0.0:0.9184:0.0:0.0816	.	720;531	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	P	531;720;720;497	ENSP00000370122:R531P;ENSP00000324375:R720P;ENSP00000264709:R720P;ENSP00000384237:R497P	ENSP00000264709:R720P	R	-	2	0	DNMT3A	25317027	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.756000	0.85195	2.613000	0.88420	0.555000	0.69702	CGC		0.577	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		G	25463523	C	G	25463523	3	3	261	1	0	0	0	0	1	0	0	0	4678	768	27	4	603	4	DNMT3A	2	25463523	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08		25463523	217735850	14	15645											
ASXL2	55252	broad.mit.edu	37	2	25972716	25972716	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:25972716G>C	ENST00000435504.4	-	12	2002	c.1709C>G	c.(1708-1710)tCt>tGt	p.S570C	ASXL2_ENST00000272341.4_Missense_Mutation_p.S310C|ASXL2_ENST00000336112.4_Missense_Mutation_p.S542C|ASXL2_ENST00000404843.1_Missense_Mutation_p.S310C			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	570					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGAGGGAAGACTTCCTCTT	0.547																																																0													96	95	95					2																	25972716		1948	4144	6092	SO:0001583	missense	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1709C>G	2.37:g.25972716G>C	ENSP00000391447:p.Ser570Cys		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	G	13.66	2.304244	0.40795	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.94	5.05	0.67936	.	0.424253	0.23187	N	0.050951	T	0.46908	0.1417	L	0.59436	1.845	0.35207	D	0.774766	P;P	0.50710	0.91;0.938	P;P	0.49301	0.606;0.541	T	0.62613	-0.6817	10	0.72032	D	0.01	-0.6209	9.3449	0.38102	0.0756:0.1463:0.7781:0.0	.	310;570	Q76L83-2;Q76L83	.;ASXL2_HUMAN	C	570;542;310;310	ENSP00000391447:S570C;ENSP00000337250:S542C;ENSP00000383920:S310C;ENSP00000272341:S310C	ENSP00000272341:S310C	S	-	2	0	ASXL2	25826220	0.999000	0.42202	0.990000	0.47175	0.957000	0.61999	3.282000	0.51693	1.482000	0.48325	0.650000	0.86243	TCT		0.547	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		C	25972716	G	C	25972716	3	2	261	1	0	0	0	0	1	0	0	0	1067	942	33	4	2606	4	ASXL2	2	25972716	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	509193	25972716	217226657	15	15646											
KIAA1841	84542	broad.mit.edu	37	2	61308620	61308620	+	Missense_Mutation	SNP	C	C	T	rs141315892		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:61308620C>T	ENST00000402291.1	+	7	945	c.704C>T	c.(703-705)tCg>tTg	p.S235L	KIAA1841_ENST00000356719.2_Missense_Mutation_p.S235L|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S235L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S235L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	235										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CTTATTTCTTCGGAGTTTTTA	0.313																																																0								C	LEU/SER,LEU/SER	0,4338		0,0,2169	69	84	79		704,704	5.7	1	2	dbSNP_134	79	1,8567	1.2+/-3.3	0,1,4283	no	missense,missense	KIAA1841	NM_001129993.1,NM_032506.2	145,145	0,1,6452	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	235/719,235/708	61308620	1,12905	2169	4284	6453	SO:0001583	missense	84542			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.704C>T	2.37:g.61308620C>T	ENSP00000385579:p.Ser235Leu		Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736836	0.89482	0.0	1.17E-4	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63319	-0.6664	10	0.87932	D	0	-12.3439	20.0965	0.97849	0.0:1.0:0.0:0.0	.	235;235;235	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	L	235	ENSP00000385579:S235L;ENSP00000295031:S235L;ENSP00000349154:S235L;ENSP00000416795:S235L	ENSP00000295031:S235L	S	+	2	0	KIAA1841	61162124	1.000000	0.71417	0.993000	0.49108	0.536000	0.34869	7.394000	0.79862	2.824000	0.97209	0.655000	0.94253	TCG		0.313	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		T	61308620	C	T	61308620	3	4	261	1	0	0	0	0	1	0	0	0	8263	893	31	1	722	1	KIAA1841	2	61308620	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	35335904	61308620	181890753	16	15647											
RAB11FIP5	26056	broad.mit.edu	37	2	73303217	73303217	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:73303217A>T	ENST00000258098.6	-	4	1902	c.1662T>A	c.(1660-1662)agT>agA	p.S554R	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	554					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCTCCAGCCCACTGCTCAGGG	0.622																																																0													140	144	143					2																	73303217		2203	4300	6503	SO:0001583	missense	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1662T>A	2.37:g.73303217A>T	ENSP00000258098:p.Ser554Arg		O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758590	0.69763	.	.	ENSG00000135631	ENST00000258098	T	0.48522	0.81	5.29	-9.74	0.00509	.	0.320834	0.32041	N	0.006672	T	0.33294	0.0858	L	0.32530	0.975	0.27630	N	0.948056	B	0.18461	0.028	B	0.16289	0.015	T	0.01232	-1.1411	10	0.28530	T	0.3	-4.805	23.719	0.99985	0.158:0.0:0.842:0.0	.	554	Q9BXF6	RFIP5_HUMAN	R	554	ENSP00000258098:S554R	ENSP00000258098:S554R	S	-	3	2	RAB11FIP5	73156725	0.003000	0.15002	0.374000	0.26016	0.989000	0.77384	-1.646000	0.01998	-2.150000	0.00796	-0.312000	0.09012	AGT		0.622	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		T	73303217	A	T	73303217	3	4	261	1	0	0	0	0	1	0	0	0	12903	156	6	5	307	5	RAB11FIP5	2	73303217	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08	11994597	73303217	169896156	17	15648											
NCAPH	23397	broad.mit.edu	37	2	97024792	97024792	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:97024792G>A	ENST00000240423.4	+	10	1261	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	NCAPH_ENST00000427946.1_Missense_Mutation_p.M270I|NCAPH_ENST00000455200.1_Missense_Mutation_p.M395I	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	406					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGGAAGAAATGATTTCCCTTG	0.403																																																0													115	102	106					2																	97024792		2203	4300	6503	SO:0001583	missense	23397			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1218G>A	2.37:g.97024792G>A	ENSP00000240423:p.Met406Ile		B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323083	0.01320	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.82	0.55	0.17219	.	0.646915	0.16848	N	0.197056	T	0.17109	0.0411	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.13255	-1.0516	10	0.20519	T	0.43	0.0084	0.6204	0.00777	0.2444:0.1371:0.3481:0.2704	.	382;395;395;406	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	I	406;270;395;395	ENSP00000240423:M406I;ENSP00000400774:M270I;ENSP00000405237:M395I;ENSP00000407308:M395I	ENSP00000240423:M406I	M	+	3	0	NCAPH	96388519	0.001000	0.12720	0.026000	0.17262	0.006000	0.05464	-0.492000	0.06467	-0.182000	0.10602	-1.251000	0.01509	ATG		0.403	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		A	97024792	G	A	97024792	3	1	261	1	0	0	0	0	1	0	0	0	10211	1290	45	2	1256	2	NCAPH	2	97024792	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	23721575	97024792	146174581	18	15649											
VWA3B	200403	broad.mit.edu	37	2	98750303	98750303	+	Missense_Mutation	SNP	G	G	A	rs200133181	byFrequency	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:98750303G>A	ENST00000477737.1	+	7	1093	c.889G>A	c.(889-891)Gag>Aag	p.E297K	VWA3B_ENST00000451075.2_Missense_Mutation_p.E147K|VWA3B_ENST00000435344.1_Missense_Mutation_p.E297K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	297										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGCATTTGCCGAGAGAACAGA	0.478													G|||	13	0.00259585	0.0	0.0	5008	,	,		23738	0.0		0.0	False		,,,				2504	0.0133															0													287	272	276					2																	98750303		2073	4224	6297	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.889G>A	2.37:g.98750303G>A	ENSP00000417955:p.Glu297Lys		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701576	0.30142	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.14893	7.5;7.5;2.47	5.66	4.77	0.60923	.	0.090990	0.47093	D	0.000251	T	0.28764	0.0713	L	0.56769	1.78	0.24318	N	0.995055	D;P;D	0.67145	0.994;0.938;0.996	P;B;P	0.54312	0.484;0.098;0.748	T	0.11036	-1.0604	10	0.29301	T	0.29	.	13.8041	0.63220	0.0:0.1538:0.8462:0.0	.	147;297;297	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	K	297;297;147	ENSP00000401959:E297K;ENSP00000417955:E297K;ENSP00000389463:E147K	ENSP00000411168:E297K	E	+	1	0	VWA3B	98116735	1.000000	0.71417	0.955000	0.39395	0.069000	0.16628	3.997000	0.57016	1.367000	0.46095	0.655000	0.94253	GAG		0.478	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		A	98750303	G	A	98750303	3	1	261	1	0	0	0	0	1	0	0	0	17246	1059	37	1	911	1	VWA3B	2	98750303	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	1725511	98750303	144449070	19	15650											
DCAF17	80067	broad.mit.edu	37	2	172300079	172300079	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr2:172300079A>C	ENST00000375255.3	+	3	604	c.277A>C	c.(277-279)Aaa>Caa	p.K93Q	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.K93Q	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	93					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AAAATGTTCCAAATCAGAAAA	0.318																																																0													120	111	114					2																	172300079		1799	4070	5869	SO:0001583	missense	80067			AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"DDB1 and CUL4 associated factors"	25784	protein-coding gene	gene with protein product	"Woodhouse-Sakati syndrome"	612515	"chromosome 2 open reading frame 37"	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.277A>C	2.37:g.172300079A>C	ENSP00000364404:p.Lys93Gln		B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716460	0.68844	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.50277	0.77;0.75	5.36	5.36	0.76844	.	0.331079	0.30830	N	0.008797	T	0.42787	0.1218	L	0.50333	1.59	0.29914	N	0.823356	P;B	0.39737	0.685;0.447	B;B	0.39299	0.296;0.147	T	0.51764	-0.8664	10	0.46703	T	0.11	-6.8621	10.5895	0.45302	0.9219:0.0:0.0781:0.0	.	93;93	F5H7W1;Q5H9S7	.;DCA17_HUMAN	Q	93	ENSP00000364404:K93Q;ENSP00000442238:K93Q	ENSP00000364404:K93Q	K	+	1	0	DCAF17	172008325	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.910000	0.63321	2.032000	0.59987	0.472000	0.43445	AAA		0.318	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		C	172300079	A	C	172300079	3	2	261	1	0	0	0	0	1	0	0	0	4271	131	5	5	287	5	DCAF17	2	172300079	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08	73549776	172300079	70899294	20	15651											
VHL	7428	broad.mit.edu	37	3	10183734	10183734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:10183734C>A	ENST00000256474.2	+	1	1043	c.203C>A	c.(202-204)tCg>tAg	p.S68*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCGGTGAACTCGCGCGAGCCC	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Nonsense(15)|Deletion - Frameshift(3)|Complex - frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(24)	GRCh37	CM003058|CM971566	VHL	M							8	11	10					3																	10183734		2146	4213	6359	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.203C>A	3.37:g.10183734C>A	ENSP00000256474:p.Ser68*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088584	0.94100	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.45	4.53	0.55603	.	0.369470	0.28203	N	0.016215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8236	13.5532	0.61745	0.0:0.7597:0.2403:0.0	.	.	.	.	X	68	.	ENSP00000256474:S68X	S	+	2	0	VHL	10158734	0.146000	0.22672	0.981000	0.43875	0.672000	0.39443	0.351000	0.20096	2.567000	0.86603	0.550000	0.68814	TCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183734	C	A	10183734	4	1	261	1	0	0	0	0	0	1	0	0	17167	893	31	4	205	4	VHL	3	10183734	Nonsense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08		10183734	187838696	21	15652											
PBRM1	55193	broad.mit.edu	37	3	52613209	52613209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:52613209C>A	ENST00000296302.7	-	21	3395	c.3394G>T	c.(3394-3396)Gaa>Taa	p.E1132*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E1147*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E1107*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E1107*|SMIM4_ENST00000476842.1_3'UTR|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E1132*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E1132*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E1100*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E1147*			Q86U86	PB1_HUMAN	polybromo 1	1132					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGGACATCTTCTTTTTCCTGT	0.408			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													117	108	111					3																	52613209		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3394G>T	3.37:g.52613209C>A	ENSP00000296302:p.Glu1132*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	40	8.371756	0.98781	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	.	.	.	X	1100;1107;1132;1132;1132;1107;1147;1147;1131	.	ENSP00000296302:E1132X	E	-	1	0	PBRM1	52588249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.760000	0.85248	2.765000	0.95021	0.591000	0.81541	GAA		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52613209	C	A	52613209	4	1	261	1	0	0	0	0	0	1	0	0	11493	922	32	4	1546	4	PBRM1	3	52613209	Nonsense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	42429475	52613209	145409221	22	15653											
PXK	54899	broad.mit.edu	37	3	58381438	58381438	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:58381438delG	ENST00000356151.2	+	9	883	c.774delG	c.(772-774)cagfs	p.Q258fs	PXK_ENST00000463280.1_Frame_Shift_Del_p.Q225fs|PXK_ENST00000536660.1_Frame_Shift_Del_p.Q121fs|PXK_ENST00000302779.5_Frame_Shift_Del_p.Q241fs|PXK_ENST00000383716.3_Frame_Shift_Del_p.Q225fs|PXK_ENST00000479241.1_Frame_Shift_Del_p.Q241fs|PXK_ENST00000484288.1_Frame_Shift_Del_p.Q258fs|PXK_ENST00000383715.4_Frame_Shift_Del_p.Q241fs	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGAAGATTCAGGGCCTGGAAC	0.388																																																0													75	77	76					3																	58381438		2203	4300	6503	SO:0001589	frameshift_variant	54899			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.774delG	3.37:g.58381438delG	ENSP00000348472:p.Gln258fs			Frame_Shift_Del	DEL	ENST00000356151.2	37	CCDS2889.1																																																																																				0.388	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		-	58381438	G	-	58381438	7	5	261	1	0	1	0	1	0	0	0	0	12855	991	35	0	808	0	PXK	3	58381438	Frame_Shift_Del	DEL	G	TCGA-B4-5836-01A-11D-1669-08	5768229	58381438	139640992	23	15654											
TFG	10342	broad.mit.edu	37	3	100467193	100467193	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:100467193G>A	ENST00000240851.4	+	8	1361	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	TFG_ENST00000418917.2_Missense_Mutation_p.V337M|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Missense_Mutation_p.V337M|TFG_ENST00000490574.1_Missense_Mutation_p.V341M	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	341					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TAATTATACTGTGGCTCCTGC	0.527			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																		Dom	yes		3	3q11-q12	10342	TRK-fused gene		"E, L"	0													73	76	75					3																	100467193		2203	4300	6503	SO:0001583	missense	10342			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.1021G>A	3.37:g.100467193G>A	ENSP00000240851:p.Val341Met		D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	7.009	0.556326	0.13436	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.44	5.44	0.79542	.	0.546151	0.19811	N	0.105539	T	0.25680	0.0625	N	0.08118	0	0.30936	N	0.726316	B;B	0.18166	0.026;0.015	B;B	0.14023	0.01;0.004	T	0.10200	-1.0640	10	0.33940	T	0.23	-8.8351	15.2749	0.73734	0.0:0.1402:0.8598:0.0	.	337;341	G5E9V1;Q92734	.;TFG_HUMAN	M	337;341;341;337	ENSP00000397182:V337M;ENSP00000419960:V341M;ENSP00000240851:V341M;ENSP00000417952:V337M	ENSP00000240851:V341M	V	+	1	0	TFG	101949883	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.601000	0.46249	2.937000	0.99478	0.650000	0.86243	GTG		0.527	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		A	100467193	G	A	100467193	3	1	261	1	0	0	0	0	1	0	0	0	15811	1377	48	2	1047	2	TFG	3	100467193	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	42085755	100467193	97555237	24	15655											
SLC15A2	6565	broad.mit.edu	37	3	121647902	121647903	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:121647902_121647903insT	ENST00000489711.1	+	16	1803_1804	c.1415_1416insT	c.(1414-1419)aatttgfs	p.L473fs	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Frame_Shift_Ins_p.L442fs	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	473					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAATATCACAATTTGTCTCTCT	0.386																																																0																																										SO:0001589	frameshift_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1418dupT	3.37:g.121647905_121647905dupT	ENSP00000417085:p.Leu473fs		A8K1A5|B4E2A7	Frame_Shift_Ins	INS	ENST00000489711.1	37	CCDS3007.1																																																																																				0.386	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		T	121647903	-	T	121647902	7	5	261	1	0	1	1	0	0	0	0	0	14405	101	4	0	1477	0	SLC15A2	3	121647902	Frame_Shift_Ins	INS	-	TCGA-B4-5836-01A-11D-1669-08	21180709	121647902	76374528	25	15656											
TNIK	23043	broad.mit.edu	37	3	170846555	170846555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:170846555delC	ENST00000436636.2	-	16	2065	c.1721delG	c.(1720-1722)agtfs	p.S574fs	TNIK_ENST00000284483.8_Frame_Shift_Del_p.S574fs|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000470834.1_Frame_Shift_Del_p.S545fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.S545fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.S545fs|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000538048.1_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	574	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGAACTCCACTAATGCTGAA	0.552																																																0													62	66	65					3																	170846555		1982	4167	6149	SO:0001589	frameshift_variant	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1721delG	3.37:g.170846555delC	ENSP00000399511:p.Ser574fs		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	ENST00000436636.2	37	CCDS46956.1																																																																																				0.552	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		-	170846555	C	-	170846555	7	5	261	1	0	1	0	1	0	0	0	0	16318	565	20	0	2433	0	TNIK	3	170846555	Frame_Shift_Del	DEL	C	TCGA-B4-5836-01A-11D-1669-08	49198653	170846555	27175875	26	15657											
YEATS2	55689	broad.mit.edu	37	3	183446551	183446551	+	Missense_Mutation	SNP	C	C	A	rs368128873		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr3:183446551C>A	ENST00000305135.5	+	7	919	c.724C>A	c.(724-726)Cgt>Agt	p.R242S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	242	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGAGGGTCCCGTAGAGAACC	0.413																																																0													117	119	118					3																	183446551		1850	4092	5942	SO:0001583	missense	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.724C>A	3.37:g.183446551C>A	ENSP00000306983:p.Arg242Ser		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168985	0.78339	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.23147	1.92	5.47	5.47	0.80525	.	0.070420	0.56097	D	0.000032	T	0.27278	0.0669	N	0.16098	0.37	0.58432	D	0.999992	P	0.49253	0.921	P	0.55785	0.784	T	0.03017	-1.1082	10	0.31617	T	0.26	-11.6086	14.1927	0.65649	0.1496:0.8504:0.0:0.0	.	242	Q9ULM3	YETS2_HUMAN	S	242	ENSP00000306983:R242S	ENSP00000306983:R242S	R	+	1	0	YEATS2	184929245	0.992000	0.36948	0.998000	0.56505	0.989000	0.77384	2.813000	0.48002	2.553000	0.86117	0.563000	0.77884	CGT		0.413	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		A	183446551	C	A	183446551	3	1	261	1	0	0	0	0	1	0	0	0	17477	652	23	4	746	4	YEATS2	3	183446551	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	12599996	183446551	14575879	27	15658											
ZNF141	7700	broad.mit.edu	37	4	367638	367638	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:367638A>G	ENST00000240499.7	+	4	1561	c.1412A>G	c.(1411-1413)aAa>aGa	p.K471R	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	471					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAACATAAGAAAATTCATACT	0.323																																																0													50	57	54					4																	367638		2195	4290	6485	SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1412A>G	4.37:g.367638A>G	ENSP00000240499:p.Lys471Arg		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	A	0.036	-1.305844	0.01353	.	.	ENSG00000131127	ENST00000240499	T	0.35973	1.28	1.24	-0.92	0.10475	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.01076	-1.035	0.19300	N	0.999977	B	0.02656	0.0	B	0.04013	0.001	T	0.30149	-0.9988	8	.	.	.	.	2.1737	0.03856	0.272:0.0:0.4424:0.2856	.	471	Q15928	ZN141_HUMAN	R	471	ENSP00000240499:K471R	.	K	+	2	0	ZNF141	357638	0.000000	0.05858	0.055000	0.19348	0.443000	0.32047	0.072000	0.14617	-0.274000	0.09232	0.260000	0.18958	AAA		0.323	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		G	367638	A	G	367638	3	3	261	1	0	0	0	0	1	0	0	0	17735	14	1	3	1426	3	ZNF141	4	367638	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08		367638	190786638	28	15659											
SH3BP2	6452	broad.mit.edu	37	4	2826453	2826453	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:2826453G>A	ENST00000356331.5	+	4	614	c.353G>A	c.(352-354)cGc>cAc	p.R118H	SH3BP2_ENST00000503393.2_Missense_Mutation_p.R175H|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000452765.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000442312.2_Missense_Mutation_p.R146H|SH3BP2_ENST00000435136.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000511747.1_Missense_Mutation_p.R118H	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	118	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GAGGAGGAGCGCAAGGTGACT	0.632									Cherubism																																							0													62	58	59					4																	2826453		2203	4300	6503	SO:0001583	missense	6452	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.353G>A	4.37:g.2826453G>A	ENSP00000348685:p.Arg118His		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.297313	0.81025	.	.	ENSG00000087266	ENST00000452765;ENST00000503219;ENST00000504294;ENST00000508385;ENST00000512014;ENST00000513095;ENST00000442312;ENST00000502260;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	T;T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	4.56	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051104	0.64402	D	0.000001	T	0.40272	0.1110	M	0.77313	2.365	0.80722	D	1	P;D;D;D	0.89917	0.93;1.0;0.993;0.972	P;D;P;P	0.85130	0.81;0.997;0.609;0.786	T	0.40117	-0.9580	10	0.66056	D	0.02	-21.0204	17.335	0.87277	0.0:0.0:1.0:0.0	.	146;146;175;118	B4DT04;B7Z9B6;D6R919;P78314	.;.;.;3BP2_HUMAN	H	118;118;118;118;118;118;146;118;118;118;175;118	ENSP00000409746:R118H;ENSP00000422796:R118H;ENSP00000423275:R118H;ENSP00000424917:R118H;ENSP00000424105:R118H;ENSP00000423823:R118H;ENSP00000388152:R146H;ENSP00000425537:R118H;ENSP00000403231:R118H;ENSP00000424846:R118H;ENSP00000422168:R175H;ENSP00000348685:R118H	ENSP00000348685:R118H	R	+	2	0	SH3BP2	2796251	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.813000	0.91963	2.266000	0.75297	0.645000	0.84053	CGC		0.632	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		A	2826453	G	A	2826453	3	1	261	1	0	0	0	0	1	0	0	0	14251	1087	38	1	622	1	SH3BP2	4	2826453	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	2458815	2826453	188327823	29	15660											
PPARGC1A	10891	broad.mit.edu	37	4	23816122	23816122	+	Silent	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:23816122T>A	ENST00000264867.2	-	8	1103	c.984A>T	c.(982-984)tcA>tcT	p.S328S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	328	Interaction with PPARG.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGGCTTCTTTGATGGTGGTG	0.507																																					Esophageal Squamous(29;694 744 13796 34866 44181)											0													129	132	131					4																	23816122		2203	4300	6503	SO:0001819	synonymous_variant	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.984A>T	4.37:g.23816122T>A			B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	CCDS3429.1																																																																																				0.507	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		A	23816122	T	A	23816122	2	1	261	1	0	0	0	0	0	0	0	1	12302	1799	63	5		5	PPARGC1A	4	23816122	Silent	SNP	T	TCGA-B4-5836-01A-11D-1669-08	20989669	23816122	167338154	30	15661											
WDR17	116966	broad.mit.edu	37	4	177050013	177050013	+	Splice_Site	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:177050013T>C	ENST00000280190.4	+	7	1141		c.e7+2		WDR17_ENST00000508596.1_Splice_Site|WDR17_ENST00000393643.2_Splice_Site|WDR17_ENST00000507824.2_Splice_Site			Q8IZU2	WDR17_HUMAN	WD repeat domain 17											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GAAAAAAGTGTAAGTAAAAAT	0.244																																																0													24	24	24					4																	177050013		2192	4278	6470	SO:0001630	splice_region_variant	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.985+2T>C	4.37:g.177050013T>C			E7EQX0|Q0QD35	Splice_Site	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030798	0.75504	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3459	0.74337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR17	177287007	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.258000	0.78371	2.028000	0.59812	0.477000	0.44152	.		0.244	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Intron	C	177050013	T	C	177050013	5	2	261	1	0	0	0	0	0	0	1	0	17282	1652	57	3	1009	3	WDR17	4	177050013	Splice_Site	SNP	T	TCGA-B4-5836-01A-11D-1669-08	153233891	177050013	14104263	31	15662											
ODZ3	55714	broad.mit.edu	37	4	183714515	183714515	+	Silent	SNP	C	C	T	rs369647107		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr4:183714515C>T	ENST00000511685.1	+	26	6813	c.6690C>T	c.(6688-6690)gaC>gaT	p.D2230D	TENM3_ENST00000406950.2_Silent_p.D2230D			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2230					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACCGTTATGACGGCCTGGGAA	0.458																																																0								C		1,3787		0,1,1893	80	82	81		6690	-8.1	0	4		81	0,8246		0,0,4123	no	coding-synonymous	ODZ3	NM_001080477.1		0,1,6016	TT,TC,CC		0.0,0.0264,0.0083		2230/2700	183714515	1,12033	1894	4123	6017	SO:0001819	synonymous_variant	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6690C>T	4.37:g.183714515C>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																				0.458	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183714515	C	T	183714515	2	4	261	1	0	0	0	0	0	0	0	1	10838	535	19	1		1	ODZ3	4	183714515	Silent	SNP	C	TCGA-B4-5836-01A-11D-1669-08	6664502	183714515	7439761	32	15663											
PRDM9	56979	broad.mit.edu	37	5	23527407	23527407	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:23527407G>C	ENST00000296682.3	+	11	2392	c.2210G>C	c.(2209-2211)aGa>aCa	p.R737T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	737					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACCTCCTCAGACACCAGAGG	0.582										HNSCC(3;0.000094)																																						0													21	25	24					5																	23527407		2042	4140	6182	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2210G>C	5.37:g.23527407G>C	ENSP00000296682:p.Arg737Thr		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.958983	0.00049	.	.	ENSG00000164256	ENST00000296682	T	0.26223	1.75	3.0	-5.99	0.02213	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15652	0.0377	L	0.46741	1.465	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.39781	-0.9597	9	0.10111	T	0.7	.	7.287	0.26344	0.3429:0.5055:0.1516:0.0	.	737	Q9NQV7	PRDM9_HUMAN	T	737	ENSP00000296682:R737T	ENSP00000296682:R737T	R	+	2	0	PRDM9	23563164	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-20.000000	0.00000	-1.574000	0.01657	-0.494000	0.04653	AGA		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		C	23527407	G	C	23527407	3	2	261	1	0	0	0	0	1	0	0	0	12468	942	33	4	2248	4	PRDM9	5	23527407	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08		23527407	157387853	33	15664											
UBE2D2	7322	broad.mit.edu	37	5	139003010	139003010	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:139003010C>T	ENST00000398733.3	+	6	988	c.362C>T	c.(361-363)cCt>cTt	p.P121L	UBE2D2_ENST00000511725.1_Missense_Mutation_p.P92L|UBE2D2_ENST00000505548.1_Missense_Mutation_p.P92L|UBE2D2_ENST00000253815.2_Missense_Mutation_p.P92L	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	121					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTTTAGTGCCTGAGATTGCT	0.383																																																0													198	176	183					5																	139003010		1913	4150	6063	SO:0001583	missense	7322			L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"Ubiquitin-conjugating enzymes E2"	12475	protein-coding gene	gene with protein product		602962	"ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.362C>T	5.37:g.139003010C>T	ENSP00000381717:p.Pro121Leu		D3DQC9|P51669|Q3MN78|Q96RP6	Missense_Mutation	SNP	ENST00000398733.3	37	CCDS43369.1	.	.	.	.	.	.	.	.	.	.	C	36	5.785193	0.96937	.	.	ENSG00000131508	ENST00000511725;ENST00000398733;ENST00000253815;ENST00000505007;ENST00000398734;ENST00000505548	T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22	6.01	6.01	0.97437	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	M	0.74647	2.275	0.80722	D	1	D	0.53462	0.96	P	0.62298	0.9	T	0.62062	-0.6933	10	0.87932	D	0	.	20.5141	0.99211	0.0:1.0:0.0:0.0	.	121	P62837	UB2D2_HUMAN	L	92;121;92;92;121;92	ENSP00000429613:P92L;ENSP00000381717:P121L;ENSP00000253815:P92L;ENSP00000426523:P92L;ENSP00000381718:P121L;ENSP00000424941:P92L	ENSP00000253815:P92L	P	+	2	0	UBE2D2	138983194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	2.850000	0.98022	0.655000	0.94253	CCT		0.383	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372454.3	NM_181838		T	139003010	C	T	139003010	3	4	261	1	0	0	0	0	1	0	0	0	16854	681	24	2	384	2	UBE2D2	5	139003010	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	115475603	139003010	41912250	34	15665											
TCERG1	10915	broad.mit.edu	37	5	145836770	145836770	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:145836770A>G	ENST00000296702.5	+	3	348	c.310A>G	c.(310-312)Atg>Gtg	p.M104V	TCERG1_ENST00000394421.2_Missense_Mutation_p.M104V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	104	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTCCTCCCATGAGTTCCAT	0.443																																																0													156	147	150					5																	145836770		2203	4300	6503	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.310A>G	5.37:g.145836770A>G	ENSP00000296702:p.Met104Val		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.672100	0.29693	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.27256	1.7;1.68	5.28	4.09	0.47781	.	0.118782	0.85682	D	0.000000	T	0.17152	0.0412	L	0.27053	0.805	0.33911	D	0.639652	B;B;B	0.13145	0.007;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.17107	-1.0380	10	0.18276	T	0.48	-9.5085	12.2176	0.54414	0.8574:0.1426:0.0:0.0	.	104;104;104	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	V	104	ENSP00000296702:M104V;ENSP00000377943:M104V	ENSP00000296702:M104V	M	+	1	0	TCERG1	145816963	1.000000	0.71417	0.996000	0.52242	0.859000	0.49053	5.882000	0.69714	0.807000	0.34208	0.402000	0.26972	ATG		0.443	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		G	145836770	A	G	145836770	3	3	261	1	0	0	0	0	1	0	0	0	15690	217	8	3	320	3	TCERG1	5	145836770	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08	6833760	145836770	35078490	35	15666											
AFAP1L1	134265	broad.mit.edu	37	5	148687091	148687091	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:148687091G>A	ENST00000296721.4	+	7	760	c.662G>A	c.(661-663)tGc>tAc	p.C221Y	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.C221Y|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	221	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGGAATGCAGGATATGT	0.607																																																0													78	65	70					5																	148687091		2203	4300	6503	SO:0001583	missense	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.662G>A	5.37:g.148687091G>A	ENSP00000296721:p.Cys221Tyr		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283180	0.80803	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.11495	2.77;2.77	4.89	4.89	0.63831	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.043965	0.85682	D	0.000000	T	0.33411	0.0862	M	0.65975	2.015	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.83275	0.989;0.948;0.996	T	0.04840	-1.0923	10	0.87932	D	0	-28.3548	18.243	0.89974	0.0:0.0:1.0:0.0	.	221;221;221	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	Y	221	ENSP00000296721:C221Y;ENSP00000424427:C221Y	ENSP00000296721:C221Y	C	+	2	0	AFAP1L1	148667284	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.447000	0.73465	2.543000	0.85770	0.561000	0.74099	TGC		0.607	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		A	148687091	G	A	148687091	3	1	261	1	0	0	0	0	1	0	0	0	354	1319	46	2	688	2	AFAP1L1	5	148687091	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	2850321	148687091	32228169	36	15667	123	2									
AFAP1L1	134265	broad.mit.edu	37	5	148687092	148687092	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:148687092C>T	ENST00000296721.4	+	7	761	c.663C>T	c.(661-663)tgC>tgT	p.C221C	AFAP1L1_ENST00000515000.1_Silent_p.C221C|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	221	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGGAATGCAGGATATGTG	0.612																																																0													77	65	69					5																	148687092		2203	4300	6503	SO:0001819	synonymous_variant	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.663C>T	5.37:g.148687092C>T			Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	CCDS34274.1																																																																																				0.612	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		T	148687092	C	T	148687092	2	4	261	1	0	0	0	0	0	0	0	1	354	718	25	2		2	AFAP1L1	5	148687092	Silent	SNP	C	TCGA-B4-5836-01A-11D-1669-08	1	148687092	32228168	37	15668	123	2									
SH3PXD2B	285590	broad.mit.edu	37	5	171766891	171766891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr5:171766891delC	ENST00000311601.5	-	13	1388	c.1218delG	c.(1216-1218)tggfs	p.W406fs	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	406	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGAATGTACCACCAGCCAC	0.532																																																0													50	52	51					5																	171766891		2203	4300	6503	SO:0001589	frameshift_variant	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1218delG	5.37:g.171766891delC	ENSP00000309714:p.Trp406fs		B6F0V2|Q9P2Q1	Frame_Shift_Del	DEL	ENST00000311601.5	37	CCDS34291.1																																																																																				0.532	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		-	171766891	C	-	171766891	7	5	261	1	0	1	0	1	0	0	0	0	14263	508	18	0	1521	0	SH3PXD2B	5	171766891	Frame_Shift_Del	DEL	C	TCGA-B4-5836-01A-11D-1669-08	23079799	171766891	9148369	38	15669											
SRPK1	6732	broad.mit.edu	37	6	35838125	35838125	+	Silent	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr6:35838125T>C	ENST00000373825.2	-	10	1209	c.924A>G	c.(922-924)gaA>gaG	p.E308E	SRPK1_ENST00000423325.2_Silent_p.E292E|SRPK1_ENST00000373822.1_Silent_p.E201E					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GACTCTCTGATTCTTCTTGCT	0.413																																					NSCLC(31;67 978 16289 24856 26454)											0													139	125	129					6																	35838125		1824	4076	5900	SO:0001819	synonymous_variant	6732			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.924A>G	6.37:g.35838125T>C				Silent	SNP	ENST00000373825.2	37	CCDS47415.1																																																																																				0.413	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		C	35838125	T	C	35838125	2	2	261	1	0	0	0	0	0	0	0	1	15164	1490	52	3		3	SRPK1	6	35838125	Silent	SNP	T	TCGA-B4-5836-01A-11D-1669-08		35838125	135276942	39	15670											
GSTA5	221357	broad.mit.edu	37	6	52699031	52699031	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr6:52699031G>C	ENST00000370989.2	-	4	351	c.322C>G	c.(322-324)Ctt>Gtt	p.L108V	GSTA5_ENST00000284562.2_Missense_Mutation_p.L108V|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	108	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L108V(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGAGCAGAAGAAGGATCATT	0.368																																																1	Substitution - Missense(1)	lung(1)											194	185	188					6																	52699031		2203	4300	6503	SO:0001583	missense	221357			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"Glutathione S-transferases / Soluble"	19662	protein-coding gene	gene with protein product		607605	"glutathione S-transferase A5"			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.322C>G	6.37:g.52699031G>C	ENSP00000360028:p.Leu108Val		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	G	0.192	-1.052393	0.01981	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02177	4.41;4.41	2.58	-2.19	0.07015	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	2.145920	0.01997	N	0.045948	T	0.00580	0.0019	L	0.33668	1.02	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48570	-0.9024	10	0.15066	T	0.55	.	4.7626	0.13115	0.3257:0.2944:0.3799:0.0	.	108	Q7RTV2	GSTA5_HUMAN	V	108	ENSP00000360028:L108V;ENSP00000284562:L108V	ENSP00000284562:L108V	L	-	1	0	GSTA5	52806990	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.055000	0.00626	-0.383000	0.07858	0.184000	0.17185	CTT		0.368	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		C	52699031	G	C	52699031	3	2	261	1	0	0	0	0	1	0	0	0	6836	942	33	4	358	4	GSTA5	6	52699031	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	16860906	52699031	118416036	40	15671											
L3MBTL3	84456	broad.mit.edu	37	6	130415459	130415459	+	Silent	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr6:130415459G>T	ENST00000529410.1	+	20	2162	c.1683G>T	c.(1681-1683)ccG>ccT	p.P561P	L3MBTL3_ENST00000361794.2_Silent_p.P561P|L3MBTL3_ENST00000368139.2_Silent_p.P536P|L3MBTL3_ENST00000533560.1_Silent_p.P536P|L3MBTL3_ENST00000368136.2_Silent_p.P561P|L3MBTL3_ENST00000526019.1_Silent_p.P536P			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	561					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GCTCAACCCCGGGATGTAAAG	0.443																																																0													83	80	81					6																	130415459		2203	4300	6503	SO:0001819	synonymous_variant	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1683G>T	6.37:g.130415459G>T			Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	CCDS34537.1																																																																																				0.443	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		T	130415459	G	T	130415459	2	4	261	1	0	0	0	0	0	0	0	1	8595	1103	39	4		4	L3MBTL3	6	130415459	Silent	SNP	G	TCGA-B4-5836-01A-11D-1669-08	77716428	130415459	40699608	41	15672											
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428																																																1	Substitution - coding silent(1)	urinary_tract(1)																																								SO:0001819	synonymous_variant	55253			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C			Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		C	66479413	T	C	66479413	2	2	261	1	0	0	0	0	0	0	0	1	16823	1567	55	3		3	TYW1	7	66479413	Silent	SNP	T	TCGA-B4-5836-01A-11D-1669-08		66479413	92659250	42	15673											
TECPR1	25851	broad.mit.edu	37	7	97874215	97874215	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr7:97874215A>G	ENST00000447648.2	-	4	689	c.390T>C	c.(388-390)ggT>ggC	p.G130G	TECPR1_ENST00000542604.1_Silent_p.G51G|TECPR1_ENST00000379795.3_Silent_p.G130G			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	130					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGTGGGTTCACCTCCAAAAT	0.642																																																0													59	73	69					7																	97874215		2158	4243	6401	SO:0001819	synonymous_variant	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.390T>C	7.37:g.97874215A>G			A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	CCDS47648.1																																																																																				0.642	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		G	97874215	A	G	97874215	2	3	261	1	0	0	0	0	0	0	0	1	15748	146	6	3		3	TECPR1	7	97874215	Silent	SNP	A	TCGA-B4-5836-01A-11D-1669-08	31394802	97874215	61264448	43	15674											
ABP1	26	broad.mit.edu	37	7	150555947	150555947	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr7:150555947A>G	ENST00000493429.1	+	5	2251	c.1667A>G	c.(1666-1668)cAg>cGg	p.Q556R	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.Q556R|AOC1_ENST00000467291.1_Missense_Mutation_p.Q556R|AOC1_ENST00000416793.2_Missense_Mutation_p.Q556R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	556					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	ACTCTGGAGCAGACGCAGTAC	0.597																																																0													32	36	35					7																	150555947		1994	4170	6164	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1667A>G	7.37:g.150555947A>G	ENSP00000418614:p.Gln556Arg		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	A	0.028	-1.357010	0.01245	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.03094	4.05;4.05;4.05;4.05	5.57	-1.9	0.07665	Copper amine oxidase, C-terminal (3);	0.333584	0.33217	N	0.005160	T	0.01156	0.0038	N	0.02842	-0.48	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.46762	-0.9168	10	0.02654	T	1	-35.5427	5.9683	0.19338	0.3875:0.0:0.4662:0.1463	.	556;556	C9J690;P19801	.;ABP1_HUMAN	R	556;556;556;82;556;432	ENSP00000418614:Q556R;ENSP00000418328:Q556R;ENSP00000354193:Q556R;ENSP00000411613:Q556R	ENSP00000354193:Q556R	Q	+	2	0	ABP1	150186880	0.025000	0.19082	0.000000	0.03702	0.003000	0.03518	2.041000	0.41213	-0.110000	0.12022	-0.366000	0.07423	CAG		0.597	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		G	150555947	A	G	150555947	3	3	261	1	0	0	0	0	1	0	0	0	98	188	7	3	1673	3	ABP1	7	150555947	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08	52681732	150555947	8582716	44	15675											
DCAF13	25879	broad.mit.edu	37	8	104444929	104444929	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr8:104444929A>G	ENST00000297579.5	+	7	1478	c.1201A>G	c.(1201-1203)Atg>Gtg	p.M401V	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	249					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTGGAACCCTATGGAAGCTTT	0.333																																																0													82	90	87					8																	104444929		2203	4298	6501	SO:0001583	missense	25879			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1201A>G	8.37:g.104444929A>G	ENSP00000297579:p.Met401Val		Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870370	0.72065	.	.	ENSG00000164934	ENST00000297579	T	0.01279	5.06	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.03959	0.0111	M	0.82193	2.58	0.80722	D	1	P	0.38420	0.63	B	0.37267	0.245	T	0.16100	-1.0414	10	0.72032	D	0.01	-26.9987	15.7996	0.78443	1.0:0.0:0.0:0.0	.	249	Q9NV06	DCA13_HUMAN	V	401	ENSP00000297579:M401V	ENSP00000297579:M401V	M	+	1	0	DCAF13	104514105	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.649000	0.91067	2.189000	0.69895	0.460000	0.39030	ATG		0.333	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		G	104444929	A	G	104444929	3	3	261	1	0	0	0	0	1	0	0	0	4268	449	16	3	1227	3	DCAF13	8	104444929	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08		104444929	41919093	45	15676											
CNTLN	54875	broad.mit.edu	37	9	17466109	17466109	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:17466109delA	ENST00000380647.3	+	22	3746	c.3662delA	c.(3661-3663)gaafs	p.E1221fs	CNTLN_ENST00000425824.1_Frame_Shift_Del_p.E1221fs|CNTLN_ENST00000262360.5_Frame_Shift_Del_p.E1221fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1221					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGGAGTTAGAAAAAAAGGTA	0.308																																																0													74	70	71					9																	17466109		1805	4064	5869	SO:0001589	frameshift_variant	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3662delA	9.37:g.17466109delA	ENSP00000370021:p.Glu1221fs		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Del	DEL	ENST00000380647.3	37	CCDS43789.1																																																																																				0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		-	17466109	A	-	17466109	7	5	261	1	0	1	0	1	0	0	0	0	3641	246	9	0	3778	0	CNTLN	9	17466109	Frame_Shift_Del	DEL	A	TCGA-B4-5836-01A-11D-1669-08		17466109	123747322	46	15677											
GAPVD1	26130	broad.mit.edu	37	9	128099797	128099797	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:128099797delT	ENST00000495955.1	+	17	3094	c.2804delT	c.(2803-2805)attfs	p.I935fs	GAPVD1_ENST00000470056.1_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.I909fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.I914fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.I962fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.I935fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.I914fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	935					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCTGCAGCCATTGGTGCTACT	0.522																																																0													74	72	72					9																	128099797		2203	4300	6503	SO:0001589	frameshift_variant	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2804delT	9.37:g.128099797delT	ENSP00000419063:p.Ile935fs		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Frame_Shift_Del	DEL	ENST00000495955.1	37																																																																																					0.522	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			-	128099797	T	-	128099797	7	5	261	1	0	1	0	1	0	0	0	0	6241	1493	52	0	2943	0	GAPVD1	9	128099797	Frame_Shift_Del	DEL	T	TCGA-B4-5836-01A-11D-1669-08	110633688	128099797	13113634	47	15678											
MAPKAP1	79109	broad.mit.edu	37	9	128246809	128246810	+	Frame_Shift_Del	DEL	CT	CT	-	rs527756409		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:128246809_128246810delCT	ENST00000373498.1	-	8	1187_1188	c.1119_1120delAG	c.(1117-1122)acagtafs	p.V374fs	MAPKAP1_ENST00000265960.3_Frame_Shift_Del_p.V374fs|MAPKAP1_ENST00000350766.3_Frame_Shift_Del_p.V338fs|MAPKAP1_ENST00000373497.5_Frame_Shift_Del_p.V87fs|MAPKAP1_ENST00000373511.2_Intron|MAPKAP1_ENST00000394063.1_Frame_Shift_Del_p.V182fs|MAPKAP1_ENST00000373503.3_Frame_Shift_Del_p.V182fs			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	374					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ATATCCTGTACTGTGGCTATGT	0.47																																																0																																										SO:0001589	frameshift_variant	79109			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1119_1120delAG	9.37:g.128246809_128246810delCT	ENSP00000362597:p.Val374fs		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Frame_Shift_Del	DEL	ENST00000373498.1	37	CCDS35140.1																																																																																				0.47	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			-	128246810	CT	-	128246809	7	5	261	1	0	1	0	1	0	0	0	0	9290	565	20	0	464	0	MAPKAP1	9	128246809	Frame_Shift_Del	DEL	CT	TCGA-B4-5836-01A-11D-1669-08	147012	128246809	12966622	48	15679											
MED22	6837	broad.mit.edu	37	9	136212036	136212036	+	Silent	SNP	G	G	C	rs199628533		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr9:136212036G>C	ENST00000491289.1	-	3	776	c.195C>G	c.(193-195)gcC>gcG	p.A65A	MED22_ENST00000471524.1_5'UTR|MED22_ENST00000344469.5_Silent_p.A65A|MED22_ENST00000476080.1_Silent_p.A65A|MED22_ENST00000343730.5_Silent_p.A65A|MED22_ENST00000371999.1_Intron			Q15528	MED22_HUMAN	mediator complex subunit 22	65						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CGATGTTGGCGGCTCGCACAT	0.597																																																0													122	83	96					9																	136212036		2203	4300	6503	SO:0001819	synonymous_variant	6837				CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"surfeit 5"	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.195C>G	9.37:g.136212036G>C			B3KW83|B3KWX4|O76072|Q5T8U0	Silent	SNP	ENST00000491289.1	37	CCDS6963.1																																																																																				0.597	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640		C	136212036	G	C	136212036	2	2	261	1	0	0	0	0	0	0	0	1	9442	1103	39	4		4	MED22	9	136212036	Silent	SNP	G	TCGA-B4-5836-01A-11D-1669-08	7965227	136212036	5001395	49	15680											
ACBD7	414149	broad.mit.edu	37	10	15120706	15120706	+	Silent	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:15120706T>A	ENST00000356189.5	-	3	224	c.177A>T	c.(175-177)gcA>gcT	p.A59A	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	59	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			endometrium(1)|lung(4)|prostate(1)	6						TGAGGTTCCATGCTTCCCATT	0.388																																																0													109	100	103					10																	15120706		2203	4300	6503	SO:0001819	synonymous_variant	414149			AK095538	CCDS31153.1	10p13	2010-08-05	2010-04-30		ENSG00000176244	ENSG00000176244			17715	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 7"				Standard	NM_001039844		Approved	FLJ38219, bA455B2.2	uc010qby.1	Q8N6N7	OTTHUMG00000017725	ENST00000356189.5:c.177A>T	10.37:g.15120706T>A			A6NCI2|B3KTG8	Silent	SNP	ENST00000356189.5	37	CCDS31153.1																																																																																				0.388	ACBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046972.2			A	15120706	T	A	15120706	2	1	261	1	0	0	0	0	0	0	0	1	127	1451	51	5		5	ACBD7	10	15120706	Silent	SNP	T	TCGA-B4-5836-01A-11D-1669-08		15120706	120414041	50	15681											
PLXDC2	84898	broad.mit.edu	37	10	20465934	20465936	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:20465934_20465936delGAA	ENST00000377252.4	+	8	1731_1733	c.890_892delGAA	c.(889-894)cgaaga>cga	p.297_298RR>R	PLXDC2_ENST00000377242.3_In_Frame_Del_p.248_249RR>R|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	297					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTAGATGTTCGAAGAAGAACAAT	0.32																																																0																																										SO:0001651	inframe_deletion	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.890_892delGAA	10.37:g.20465940_20465942delGAA	ENSP00000366460:p.Arg299del		Q96E59|Q96PD9|Q96SU9	In_Frame_Del	DEL	ENST00000377252.4	37	CCDS7132.1																																																																																				0.32	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		-	20465936	GAA	-	20465934	7	5	261	1	0	1	0	1	0	0	0	0	12120	1058	37	0	920	0	PLXDC2	10	20465934	In_Frame_Del	DEL	GAA	TCGA-B4-5836-01A-11D-1669-08	5345228	20465934	115068813	51	15682											
WAPAL	23063	broad.mit.edu	37	10	88230780	88230780	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:88230780A>G	ENST00000298767.5	-	8	2583	c.2111T>C	c.(2110-2112)tTt>tCt	p.F704S	WAPAL_ENST00000263070.7_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	704	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CAAGGTTTTAAAGACCATTGC	0.393																																																0													92	83	86					10																	88230780		2203	4300	6503	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2111T>C	10.37:g.88230780A>G	ENSP00000298767:p.Phe704Ser		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958565	0.92726	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.49432	0.78	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;0.982;1.0	D;D;D;D	0.87578	0.966;0.998;0.966;0.997	T	0.75525	-0.3287	10	0.87932	D	0	.	16.168	0.81785	1.0:0.0:0.0:0.0	.	698;742;704;741	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	S	789;704;789	ENSP00000298767:F704S	ENSP00000298767:F704S	F	-	2	0	WAPAL	88220760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.279000	0.76181	0.528000	0.53228	TTT		0.393	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		G	88230780	A	G	88230780	3	3	261	1	0	0	0	0	1	0	0	0	17253	14	1	3	1509	3	WAPAL	10	88230780	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08	67764846	88230780	47303967	52	15683											
NOC3L	64318	broad.mit.edu	37	10	96099569	96099569	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:96099569A>C	ENST00000371361.3	-	17	1989	c.1889T>G	c.(1888-1890)cTt>cGt	p.L630R	NOC3L_ENST00000543788.1_Missense_Mutation_p.L368R|NOC3L_ENST00000371350.1_Missense_Mutation_p.L630R	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	630					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AAGGGTACAAAGGCGTTTGAT	0.408																																																0													111	104	106					10																	96099569		2203	4300	6503	SO:0001583	missense	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1889T>G	10.37:g.96099569A>C	ENSP00000360412:p.Leu630Arg		Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456173	0.84209	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.39997	1.05;1.05;1.05	5.28	5.28	0.74379	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81551	-0.0881	10	0.87932	D	0	-12.5699	15.504	0.75722	1.0:0.0:0.0:0.0	.	630	Q8WTT2	NOC3L_HUMAN	R	368;630;630	ENSP00000437838:L368R;ENSP00000360412:L630R;ENSP00000360401:L630R	ENSP00000360401:L630R	L	-	2	0	NOC3L	96089559	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.910000	0.92685	2.134000	0.65973	0.459000	0.35465	CTT		0.408	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		C	96099569	A	C	96099569	3	2	261	1	0	0	0	0	1	0	0	0	10516	72	3	5	533	5	NOC3L	10	96099569	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08	7868789	96099569	39435178	53	15684											
ZNF511	118472	broad.mit.edu	37	10	135123289	135123289	+	Silent	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr10:135123289G>A	ENST00000359035.3	+	3	240	c.237G>A	c.(235-237)gcG>gcA	p.A79A	TUBGCP2_ENST00000417178.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Silent_p.A79A|TUBGCP2_ENST00000368563.2_5'Flank|ZNF511_ENST00000368554.4_Silent_p.A14A			Q8NB15	ZN511_HUMAN	zinc finger protein 511	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GGGTGCCCGCGTTTGCCTGCC	0.587																																																0													73	63	67					10																	135123289		2203	4300	6503	SO:0001819	synonymous_variant	118472			AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"Zinc fingers, C2H2-type"	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.237G>A	10.37:g.135123289G>A			A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	ENST00000359035.3	37																																																																																					0.587	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		A	135123289	G	A	135123289	2	1	261	1	0	0	0	0	0	0	0	1	17960	1132	40	1		1	ZNF511	10	135123289	Silent	SNP	G	TCGA-B4-5836-01A-11D-1669-08	39023720	135123289	411458	54	15685											
MOB2	81532	broad.mit.edu	37	11	1501649	1501649	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:1501649C>T	ENST00000329957.6	-	3	528	c.339G>A	c.(337-339)acG>acA	p.T113T	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	82					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						TCGTCTGACACGTCTCTCCTG	0.577																																																0													110	116	114					11																	1501649		2087	4214	6301	SO:0001819	synonymous_variant	81532				CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"MOB kinase activators"	24904	protein-coding gene	gene with protein product	"MOB2 Mps One Binder homolog (yeast)"	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.339G>A	11.37:g.1501649C>T			B4DKP3|Q96M67	Silent	SNP	ENST00000329957.6	37	CCDS53591.1																																																																																				0.577	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		T	1501649	C	T	1501649	2	4	261	1	0	0	0	0	0	0	0	1	9683	523	19	1		1	MOB2	11	1501649	Silent	SNP	C	TCGA-B4-5836-01A-11D-1669-08		1501649	133504867	55	15686											
CALCA	796	broad.mit.edu	37	11	14991621	14991621	+	Splice_Site	SNP	C	C	T	rs556800566		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:14991621C>T	ENST00000486207.1	-	2	95	c.87G>A	c.(85-87)agG>agA	p.R29R	CALCA_ENST00000361010.3_Splice_Site_p.R29R|CALCA_ENST00000359642.3_Splice_Site_p.R29R|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000331587.4_Splice_Site_p.R29R|CALCA_ENST00000396372.2_Splice_Site_p.R29R			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	29					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						CCAGGGCAGACCTGTGGAGGG	0.632																																																0													33	34	34					11																	14991621		2200	4294	6494	SO:0001630	splice_region_variant	796			X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"Endogenous ligands"	1437	protein-coding gene	gene with protein product	"calcitonin"	114130	"calcitonin 1"	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.87-1G>A	11.37:g.14991621C>T			Q93048|Q9UCP0	Splice_Site	SNP	ENST00000486207.1	37	CCDS31432.1																																																																																				0.632	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741	Silent	T	14991621	C	T	14991621	5	4	261	1	0	0	0	0	0	0	1	0	2577	521	18	2	510	2	CALCA	11	14991621	Splice_Site	SNP	C	TCGA-B4-5836-01A-11D-1669-08	13489972	14991621	120014895	56	15687											
ZNF408	79797	broad.mit.edu	37	11	46726525	46726525	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:46726525A>T	ENST00000311764.2	+	5	1505	c.1275A>T	c.(1273-1275)aaA>aaT	p.K425N		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGACCTCAAAGAGCACCAGG	0.637																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)											0													71	68	69					11																	46726525		2201	4299	6500	SO:0001583	missense	79797			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1275A>T	11.37:g.46726525A>T	ENSP00000309606:p.Lys425Asn			Missense_Mutation	SNP	ENST00000311764.2	37	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244516	0.39697	.	.	ENSG00000175213	ENST00000311764	T	0.17854	2.25	5.57	-3.08	0.05347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.502630	0.16384	N	0.216772	T	0.12646	0.0307	L	0.37697	1.125	0.21020	N	0.9998	P;P	0.38677	0.491;0.642	B;B	0.42798	0.398;0.398	T	0.28073	-1.0055	10	0.23891	T	0.37	-1.7377	8.2115	0.31486	0.3439:0.211:0.4451:0.0	.	417;425	B4DXY4;Q9H9D4	.;ZN408_HUMAN	N	425	ENSP00000309606:K425N	ENSP00000309606:K425N	K	+	3	2	ZNF408	46683101	0.002000	0.14202	0.058000	0.19502	0.923000	0.55619	0.025000	0.13577	-0.352000	0.08237	0.460000	0.39030	AAA		0.637	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		T	46726525	A	T	46726525	3	4	261	1	0	0	0	0	1	0	0	0	17893	69	3	5	1325	5	ZNF408	11	46726525	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08	31734904	46726525	88279991	57	15688											
C11orf30	56946	broad.mit.edu	37	11	76171050	76171050	+	Silent	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:76171050A>G	ENST00000529032.1	+	5	492	c.492A>G	c.(490-492)gcA>gcG	p.A164A	C11orf30_ENST00000525038.1_Silent_p.A179A|C11orf30_ENST00000524767.1_Silent_p.A179A|C11orf30_ENST00000525919.1_Silent_p.A165A|C11orf30_ENST00000343878.3_Silent_p.A164A|C11orf30_ENST00000524490.1_Silent_p.A165A|C11orf30_ENST00000334736.3_Silent_p.A164A|C11orf30_ENST00000533248.1_Silent_p.A178A			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	164	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCAGCATAGCAACGGTTAAGT	0.448																																																0													229	196	208					11																	76171050		2200	4292	6492	SO:0001819	synonymous_variant	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.492A>G	11.37:g.76171050A>G			B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	CCDS8244.1																																																																																				0.448	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		G	76171050	A	G	76171050	2	3	261	1	0	0	0	0	0	0	0	1	1638	117	5	3		3	C11orf30	11	76171050	Silent	SNP	A	TCGA-B4-5836-01A-11D-1669-08	29444525	76171050	58835466	58	15689											
CCDC82	79780	broad.mit.edu	37	11	96116619	96116619	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:96116619A>C	ENST00000278520.5	-	4	1233	c.805T>G	c.(805-807)Tgc>Ggc	p.C269G	CCDC82_ENST00000542662.1_Missense_Mutation_p.C269G|CCDC82_ENST00000423339.2_Missense_Mutation_p.C269G			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	269										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CTGCTTGGGCAAGATTCCTTT	0.318																																																0													80	75	77					11																	96116619		2197	4296	6493	SO:0001583	missense	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.805T>G	11.37:g.96116619A>C	ENSP00000278520:p.Cys269Gly		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	A	2.041	-0.420013	0.04734	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.23754	1.89;1.89;1.89	5.6	4.47	0.54385	.	0.501755	0.21502	N	0.073516	T	0.26919	0.0659	M	0.61703	1.905	0.09310	N	1	B;B	0.29646	0.253;0.099	B;B	0.36244	0.22;0.025	T	0.22800	-1.0206	10	0.17832	T	0.49	-3.9896	8.0948	0.30822	0.9086:0.0:0.0914:0.0	.	269;269	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	G	269	ENSP00000278520:C269G;ENSP00000444010:C269G;ENSP00000397156:C269G	ENSP00000278520:C269G	C	-	1	0	CCDC82	95756267	0.149000	0.22717	0.081000	0.20488	0.095000	0.18619	3.248000	0.51430	0.962000	0.38057	0.372000	0.22366	TGC		0.318	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		C	96116619	A	C	96116619	3	2	261	1	0	0	0	0	1	0	0	0	2858	130	5	5	853	5	CCDC82	11	96116619	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08	19945569	96116619	38889897	59	15690											
C11orf63	79864	broad.mit.edu	37	11	122775925	122775925	+	Intron	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr11:122775925T>C	ENST00000531316.1	+	2	956				C11orf63_ENST00000227349.2_Intron|C11orf63_ENST00000307257.6_Missense_Mutation_p.F304L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63						axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATTCAAAACCTTTTGGAGCCA	0.428																																																0													132	123	126					11																	122775925		2202	4299	6501	SO:0001627	intron_variant	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.864+773T>C	11.37:g.122775925T>C			A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	T	3.187	-0.166576	0.06461	.	.	ENSG00000109944	ENST00000307257	.	.	.	3.29	2.17	0.27698	.	.	.	.	.	T	0.26702	0.0653	N	0.22421	0.69	0.09310	N	1	B	0.24426	0.103	B	0.22386	0.039	T	0.23619	-1.0183	8	0.87932	D	0	.	5.22	0.15364	0.0:0.1333:0.0:0.8667	.	304	Q6NUN7-2	.	L	304	.	ENSP00000307695:F304L	F	+	1	0	C11orf63	122281135	0.001000	0.12720	0.001000	0.08648	0.250000	0.25880	0.363000	0.20301	0.654000	0.30846	0.528000	0.53228	TTT		0.428	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		C	122775925	T	C	122775925	1	2	261	0	1	0	0	0	0	0	0	0	1656	1609	56	3		3	C11orf63	11	122775925	Intron	SNP	T	TCGA-B4-5836-01A-11D-1669-08	26659306	122775925	12230591	60	15691											
FGF6	2251	broad.mit.edu	37	12	4554545	4554545	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:4554545C>T	ENST00000228837.2	-	1	235	c.192G>A	c.(190-192)ggG>ggA	p.G64G		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	64					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CTCCAGCTAGCCCGGCGCGAG	0.647																																																0													92	85	87					12																	4554545		2203	4300	6503	SO:0001819	synonymous_variant	2251			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.192G>A	12.37:g.4554545C>T			Q0VAE1	Silent	SNP	ENST00000228837.2	37	CCDS8527.1																																																																																				0.647	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		T	4554545	C	T	4554545	2	4	261	1	0	0	0	0	0	0	0	1	5858	726	26	2		2	FGF6	12	4554545	Silent	SNP	C	TCGA-B4-5836-01A-11D-1669-08		4554545	129297350	61	15692											
SCN8A	6334	broad.mit.edu	37	12	52100421	52100421	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:52100421G>C	ENST00000354534.6	+	11	1735	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	SCN8A_ENST00000550891.1_Missense_Mutation_p.E519D|SCN8A_ENST00000545061.1_Missense_Mutation_p.E519D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	519					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TTAAGTCAGAGTCAGAAGATG	0.438																																																0													49	50	49					12																	52100421		1926	4135	6061	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1557G>C	12.37:g.52100421G>C	ENSP00000346534:p.Glu519Asp		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651136	0.47362	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	4.41	2.57	0.30868	Domain of unknown function DUF3451 (1);	0.423577	0.23908	N	0.043366	D	0.92737	0.7691	L	0.52905	1.665	0.51012	D	0.9999	D;P;P;B	0.69078	0.997;0.729;0.901;0.108	D;B;P;B	0.66196	0.942;0.21;0.475;0.191	D	0.88940	0.3379	10	0.22109	T	0.4	.	9.2811	0.37729	0.3035:0.0:0.6965:0.0	.	519;519;519;519	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	D	519;519;519;519;432;317	ENSP00000448415:E519D;ENSP00000346534:E519D;ENSP00000440360:E519D;ENSP00000347255:E519D;ENSP00000447567:E317D	ENSP00000346534:E519D	E	+	3	2	SCN8A	50386688	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	0.211000	0.17474	0.603000	0.29913	0.462000	0.41574	GAG		0.438	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		C	52100421	G	C	52100421	3	2	261	1	0	0	0	0	1	0	0	0	13930	1020	36	4	1595	4	SCN8A	12	52100421	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	47545876	52100421	81751474	62	15693											
NEUROD4	58158	broad.mit.edu	37	12	55421030	55421030	+	Silent	SNP	G	G	C	rs569905025		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:55421030G>C	ENST00000242994.3	+	2	1185	c.807G>C	c.(805-807)ggG>ggC	p.G269G		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	269					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGCAAGATGGGTCTCCTGACC	0.522																																																0													152	146	148					12																	55421030		2203	4300	6503	SO:0001819	synonymous_variant	58158			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.807G>C	12.37:g.55421030G>C			B2RAC9	Silent	SNP	ENST00000242994.3	37	CCDS8886.1																																																																																				0.522	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			C	55421030	G	C	55421030	2	2	261	1	0	0	0	0	0	0	0	1	10352	1248	44	4		4	NEUROD4	12	55421030	Silent	SNP	G	TCGA-B4-5836-01A-11D-1669-08	3320609	55421030	78430865	63	15694											
TMEM5	10329	broad.mit.edu	37	12	64202742	64202742	+	Missense_Mutation	SNP	C	C	A	rs202056995	byFrequency	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:64202742C>A	ENST00000261234.6	+	6	1360	c.1202C>A	c.(1201-1203)aCt>aAt	p.T401N	TMEM5-AS1_ENST00000546214.1_RNA|TMEM5_ENST00000537373.1_Missense_Mutation_p.T141N	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	401						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AAAGAGAAAACTATAATTTTA	0.348																																																0													37	39	38					12																	64202742		2202	4300	6502	SO:0001583	missense	10329			AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.1202C>A	12.37:g.64202742C>A	ENSP00000261234:p.Thr401Asn		A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	C	4.872	0.162096	0.09287	.	.	ENSG00000118600	ENST00000261234;ENST00000537373	.	.	.	4.96	-0.763	0.11030	.	0.724253	0.14387	N	0.322753	T	0.23727	0.0574	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.18147	-1.0346	8	.	.	.	-18.9787	6.6171	0.22782	0.612:0.2229:0.0:0.1651	.	141;401	G3V1K2;Q9Y2B1	.;TMEM5_HUMAN	N	401;141	.	.	T	+	2	0	TMEM5	62489009	0.809000	0.29036	0.126000	0.21872	0.992000	0.81027	0.341000	0.19909	0.035000	0.15519	0.561000	0.74099	ACT		0.348	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		A	64202742	C	A	64202742	3	1	261	1	0	0	0	0	1	0	0	0	16179	565	20	4	1224	4	TMEM5	12	64202742	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	8781712	64202742	69649153	64	15695											
PPFIA2	8499	broad.mit.edu	37	12	81671129	81671129	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:81671129T>C	ENST00000549396.1	-	28	3437	c.3277A>G	c.(3277-3279)Aga>Gga	p.R1093G	PPFIA2_ENST00000407050.4_Missense_Mutation_p.R992G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1087G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R629G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R940G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R988G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1081G|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R1093G|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R279G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1078G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1072G	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1093					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCCGTCTTCTTTCTAGTTCT	0.289																																																0													129	116	120					12																	81671129		1797	4058	5855	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3277A>G	12.37:g.81671129T>C	ENSP00000450337:p.Arg1093Gly		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934995	0.52866	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.35789	2.08;2.08;1.74;1.29;1.72;2.09;2.08;1.75;2.07	5.71	5.71	0.89125	.	0.052111	0.64402	D	0.000001	T	0.48502	0.1503	M	0.90483	3.12	0.58432	D	0.999995	B	0.26775	0.159	B	0.17722	0.019	T	0.55121	-0.8190	10	0.87932	D	0	-18.3604	15.652	0.77104	0.0:0.0:0.0:1.0	.	1093	O75334	LIPA2_HUMAN	G	1093;1078;629;279;992;1104;1081;1087;988;1072	ENSP00000450337:R1093G;ENSP00000450298:R1078G;ENSP00000438337:R629G;ENSP00000445532:R279G;ENSP00000385093:R992G;ENSP00000327416:R1081G;ENSP00000449338:R1087G;ENSP00000388373:R988G;ENSP00000447868:R1072G	ENSP00000327416:R1081G	R	-	1	2	PPFIA2	80195260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.012000	0.57131	2.187000	0.69744	0.533000	0.62120	AGA		0.289	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			C	81671129	T	C	81671129	3	2	261	1	0	0	0	0	1	0	0	0	12312	1617	56	3	516	3	PPFIA2	12	81671129	Missense_Mutation	SNP	T	TCGA-B4-5836-01A-11D-1669-08	17468387	81671129	52180766	65	15696											
TBX5	6910	broad.mit.edu	37	12	114836387	114836387	+	Silent	SNP	T	T	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr12:114836387T>G	ENST00000310346.4	-	5	1167	c.501A>C	c.(499-501)ccA>ccC	p.P167P	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Silent_p.P167P|TBX5_ENST00000349716.5_Silent_p.P117P|TBX5_ENST00000526441.1_Silent_p.P167P	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	167					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CATGCCCAAATGGGTCCAGGT	0.592																																					NSCLC(152;1358 1980 4050 23898 40356)											0													102	74	83					12																	114836387		2203	4300	6503	SO:0001819	synonymous_variant	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.501A>C	12.37:g.114836387T>G			A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	CCDS9173.1																																																																																				0.592	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		G	114836387	T	G	114836387	2	3	261	1	0	0	0	0	0	0	0	1	15666	1451	51	5		5	TBX5	12	114836387	Silent	SNP	T	TCGA-B4-5836-01A-11D-1669-08	33165258	114836387	19015508	66	15697											
PAN3	255967	broad.mit.edu	37	13	28750672	28750672	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr13:28750672A>T	ENST00000380958.3	+	3	747	c.595A>T	c.(595-597)Agt>Tgt	p.S199C	PAN3_ENST00000399613.1_Missense_Mutation_p.S53C	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCTAAATGACAGTGCCAAGCC	0.343																																																0													119	115	117					13																	28750672		2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.595A>T	13.37:g.28750672A>T	ENSP00000370345:p.Ser199Cys			Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	14.54	2.565603	0.45694	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.54279	0.58;0.68	5.49	5.49	0.81192	.	0.165126	0.64402	D	0.000002	T	0.40862	0.1134	N	0.19112	0.55	0.80722	D	1	B;B;B	0.18461	0.028;0.002;0.004	B;B;B	0.14578	0.011;0.003;0.002	T	0.29366	-1.0014	10	0.66056	D	0.02	-17.9835	15.5833	0.76462	1.0:0.0:0.0:0.0	.	199;199;199	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	C	199;53	ENSP00000370345:S199C;ENSP00000382522:S53C	ENSP00000370345:S199C	S	+	1	0	PAN3	27648672	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.516000	0.60496	2.088000	0.63022	0.533000	0.62120	AGT		0.343	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		T	28750672	A	T	28750672	3	4	261	1	0	0	0	0	1	0	0	0	11417	188	7	5	605	5	PAN3	13	28750672	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08		28750672	86419206	67	15698											
TRPC4	7223	broad.mit.edu	37	13	38266346	38266346	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr13:38266346C>A	ENST00000379705.3	-	4	1881	c.1024G>T	c.(1024-1026)Gtc>Ttc	p.V342F	TRPC4_ENST00000447043.1_Missense_Mutation_p.V342F|TRPC4_ENST00000379681.3_Missense_Mutation_p.V342F|TRPC4_ENST00000355779.2_Missense_Mutation_p.V342F|TRPC4_ENST00000379679.1_Missense_Mutation_p.V169F|TRPC4_ENST00000379673.2_Missense_Mutation_p.V342F|TRPC4_ENST00000358477.2_Missense_Mutation_p.V342F|TRPC4_ENST00000338947.5_Missense_Mutation_p.V169F|TRPC4_ENST00000426868.2_Missense_Mutation_p.V342F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	342					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACAGAGAAGACAGGAAAAAGA	0.478																																																0													112	103	106					13																	38266346		2203	4300	6503	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1024G>T	13.37:g.38266346C>A	ENSP00000369027:p.Val342Phe		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	7.853	0.724373	0.15439	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.32	5.32	0.75619	.	0.238434	0.42548	D	0.000694	T	0.34542	0.0901	N	0.11201	0.11	0.45415	D	0.998392	B;B;P;B;B;B	0.43701	0.007;0.007;0.815;0.095;0.004;0.002	B;B;B;B;B;B	0.43103	0.012;0.011;0.408;0.051;0.011;0.008	T	0.10590	-1.0623	10	0.18276	T	0.48	-23.9934	19.3656	0.94460	0.0:1.0:0.0:0.0	.	342;342;342;169;342;342	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	F	342;342;169;169;342;342;342;342;342	ENSP00000369027:V342F;ENSP00000369003:V342F;ENSP00000342580:V169F;ENSP00000369001:V169F;ENSP00000410133:V342F;ENSP00000348025:V342F;ENSP00000351264:V342F;ENSP00000368995:V342F;ENSP00000414316:V342F	ENSP00000342580:V169F	V	-	1	0	TRPC4	37164346	0.993000	0.37304	0.975000	0.42487	0.957000	0.61999	2.693000	0.47027	2.637000	0.89404	0.467000	0.42956	GTC		0.478	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		A	38266346	C	A	38266346	3	1	261	1	0	0	0	0	1	0	0	0	16585	478	17	4	1956	4	TRPC4	13	38266346	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	9515674	38266346	76903532	68	15699											
IPO5	3843	broad.mit.edu	37	13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T	rs566255473		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr13:98658520C>T	ENST00000490680.1	+	14	1699	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000261574.5_Missense_Mutation_p.A563V			O00410	IPO5_HUMAN	importin 5	545					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16537	0.0		0.0	False		,,,				2504	0.0															0													95	92	93					13																	98658520		2203	4300	6503	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1634C>T	13.37:g.98658520C>T	ENSP00000418393:p.Ala545Val		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423620|5.423620	0.96111|0.96111	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76644|0.76644	0.4016|0.4016	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D;D|.	0.69078|.	0.947;0.995;0.997|.	P;P;P|.	0.54664|.	0.59;0.578;0.758|.	T|T	0.76512|0.76512	-0.2932|-0.2932	10|5	0.72032|.	D|.	0.01|.	-10.5253|-10.5253	18.8688|18.8688	0.92305|0.92305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	420;545;563|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	V|W	563;545;545;420|547	ENSP00000261574:A563V;ENSP00000350219:A545V;ENSP00000418393:A545V;ENSP00000445126:A420V|.	ENSP00000261574:A563V|.	A|R	+|+	2|1	0|2	IPO5|IPO5	97456521|97456521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.928000|5.928000	0.70088|0.70088	2.525000|2.525000	0.85131|0.85131	0.460000|0.460000	0.39030|0.39030	GCG|CGG		0.378	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		T	98658520	C	T	98658520	3	4	261	1	0	0	0	0	1	0	0	0	7798	768	27	1	1746	1	IPO5	13	98658520	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	60392174	98658520	16511358	69	15700											
OR4K17	390436	broad.mit.edu	37	14	20585784	20585784	+	Missense_Mutation	SNP	C	C	A	rs558231474		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr14:20585784C>A	ENST00000315543.4	+	1	219	c.219C>A	c.(217-219)aaC>aaA	p.N73K		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTTGGGTAACCTTCTTATTA	0.413																																																0													299	289	292					14																	20585784		2203	4300	6503	SO:0001583	missense	390436				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.219C>A	14.37:g.20585784C>A	ENSP00000319197:p.Asn73Lys		Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.948469	0.34377	.	.	ENSG00000176230	ENST00000315543	T	0.75704	-0.96	2.86	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36555	U	0.002538	D	0.89743	0.6803	H	0.98682	4.3	0.28795	N	0.899105	D	0.89917	1.0	D	0.97110	1.0	T	0.82617	-0.0369	10	0.87932	D	0	.	9.227	0.37414	0.0:0.8736:0.0:0.1264	.	45	Q8NGC6	OR4KH_HUMAN	K	73	ENSP00000319197:N73K	ENSP00000319197:N73K	N	+	3	2	OR4K17	19655624	0.000000	0.05858	0.992000	0.48379	0.387000	0.30353	-1.154000	0.03166	1.579000	0.49836	0.404000	0.27445	AAC		0.413	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			A	20585784	C	A	20585784	3	1	261	1	0	0	0	0	1	0	0	0	11073	506	18	4	221	4	OR4K17	14	20585784	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08		20585784	86763756	70	15701											
MYH7	4625	broad.mit.edu	37	14	23886884	23886884	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr14:23886884G>A	ENST00000355349.3	-	31	4343	c.4181C>T	c.(4180-4182)gCc>gTc	p.A1394V	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1394					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCCGCTGGGCCAGCTTCTT	0.587																																																0													35	37	37					14																	23886884		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4181C>T	14.37:g.23886884G>A	ENSP00000347507:p.Ala1394Val		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761445	0.89932	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78707	-1.2	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	T	0.78207	0.4247	L	0.55017	1.72	0.80722	D	1	B	0.25351	0.124	B	0.34385	0.181	T	0.75494	-0.3298	9	0.45353	T	0.12	.	18.4708	0.90774	0.0:0.0:1.0:0.0	.	1394	P12883	MYH7_HUMAN	V	1394;1399	ENSP00000347507:A1394V	ENSP00000347507:A1394V	A	-	2	0	MYH7	22956724	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.213000	0.72194	2.609000	0.88269	0.561000	0.74099	GCC		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		A	23886884	G	A	23886884	3	1	261	1	0	0	0	0	1	0	0	0	10041	1203	42	2	1666	2	MYH7	14	23886884	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	3301100	23886884	83462656	71	15702											
MKRN3	7681	broad.mit.edu	37	15	23811291	23811291	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:23811291T>A	ENST00000314520.3	+	1	838	c.362T>A	c.(361-363)cTt>cAt	p.L121H	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	121					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCGCACGACCTTTCTGGTCGG	0.602																																																0													56	58	57					15																	23811291		2203	4300	6503	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.362T>A	15.37:g.23811291T>A	ENSP00000313881:p.Leu121His			Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753744	0.69648	.	.	ENSG00000179455	ENST00000314520	T	0.35973	1.28	3.94	0.158	0.14942	Zinc finger, CCCH-type (2);	0.280449	0.29451	N	0.012115	T	0.35595	0.0937	L	0.58810	1.83	0.47819	D	0.999521	D	0.55800	0.973	P	0.52031	0.688	T	0.23833	-1.0177	10	0.59425	D	0.04	.	1.0095	0.01494	0.1919:0.1083:0.199:0.5008	.	121	Q13064	MKRN3_HUMAN	H	121	ENSP00000313881:L121H	ENSP00000313881:L121H	L	+	2	0	MKRN3	21362384	0.248000	0.23930	0.002000	0.10522	0.287000	0.27160	2.497000	0.45354	0.010000	0.14839	0.460000	0.39030	CTT		0.602	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		A	23811291	T	A	23811291	3	1	261	1	0	0	0	0	1	0	0	0	9610	1609	56	5	364	5	MKRN3	15	23811291	Missense_Mutation	SNP	T	TCGA-B4-5836-01A-11D-1669-08		23811291	78720101	72	15703											
SPTBN5	51332	broad.mit.edu	37	15	42169539	42169539	+	Missense_Mutation	SNP	G	G	C	rs377585270		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:42169539G>C	ENST00000320955.6	-	18	3713	c.3486C>G	c.(3484-3486)gaC>gaG	p.D1162E		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1162					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCTCTGAGCGTCCAGCTGCT	0.627																																																0													18	20	19					15																	42169539		2034	4192	6226	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3486C>G	15.37:g.42169539G>C	ENSP00000317790:p.Asp1162Glu			Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	0.013	-1.625193	0.00820	.	.	ENSG00000137877	ENST00000320955	T	0.45276	0.9	4.96	2.06	0.26882	.	0.446893	0.20852	N	0.084519	T	0.11324	0.0276	N	0.01800	-0.715	0.09310	N	0.99999	B	0.06786	0.001	B	0.09377	0.004	T	0.29761	-1.0001	10	0.02654	T	1	.	2.388	0.04371	0.142:0.4116:0.286:0.1604	.	1162	Q9NRC6	SPTN5_HUMAN	E	1162	ENSP00000317790:D1162E	ENSP00000317790:D1162E	D	-	3	2	SPTBN5	39956831	0.460000	0.25776	0.998000	0.56505	0.313000	0.28021	0.008000	0.13197	0.238000	0.21222	-1.157000	0.01802	GAC		0.627	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		C	42169539	G	C	42169539	3	2	261	1	0	0	0	0	1	0	0	0	15127	1136	40	4	7742	4	SPTBN5	15	42169539	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	18358248	42169539	60361853	73	15704											
DMXL2	23312	broad.mit.edu	37	15	51828461	51828461	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:51828461G>C	ENST00000251076.5	-	12	2503	c.2216C>G	c.(2215-2217)aCt>aGt	p.T739S	DMXL2_ENST00000543779.2_Missense_Mutation_p.T739S|DMXL2_ENST00000449909.3_Missense_Mutation_p.T739S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	739						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TACTCCTCCAGTGTATGACAA	0.433																																																0													216	200	205					15																	51828461		2195	4293	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2216C>G	15.37:g.51828461G>C	ENSP00000251076:p.Thr739Ser		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	8.195	0.796844	0.16327	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.23552	1.9;1.9;1.9	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);	0.045708	0.85682	D	0.000000	T	0.06645	0.0170	N	0.00408	-1.53	0.27482	N	0.95255	B;B;B	0.24651	0.047;0.087;0.108	B;B;B	0.19946	0.015;0.018;0.027	T	0.15464	-1.0436	10	0.02654	T	1	.	14.7243	0.69332	0.0:0.1445:0.8555:0.0	.	739;739;739	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	S	739	ENSP00000251076:T739S;ENSP00000441858:T739S;ENSP00000400855:T739S	ENSP00000251076:T739S	T	-	2	0	DMXL2	49615753	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.513000	0.81739	2.510000	0.84645	0.655000	0.94253	ACT		0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		C	51828461	G	C	51828461	3	2	261	1	0	0	0	0	1	0	0	0	4597	1029	36	4	7025	4	DMXL2	15	51828461	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	9658922	51828461	50702931	74	15705											
C15orf42	90381	broad.mit.edu	37	15	90126125	90126125	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr15:90126125T>A	ENST00000268138.7	+	2	968	c.863T>A	c.(862-864)tTg>tAg	p.L288*	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Nonsense_Mutation_p.L288*|RP11-429B14.3_ENST00000560477.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	288					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TTAAACCGTTTGCTCTACAAT	0.418																																																0													101	97	98					15																	90126125		1937	4131	6068	SO:0001587	stop_gained	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.863T>A	15.37:g.90126125T>A	ENSP00000268138:p.Leu288*		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.545644	0.86022	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.44	5.44	0.79542	.	0.075350	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1475	15.7855	0.78300	0.0:0.0:0.0:1.0	.	.	.	.	X	288	.	ENSP00000268138:L288X	L	+	2	0	C15orf42	87927129	1.000000	0.71417	0.861000	0.33841	0.268000	0.26511	5.254000	0.65457	2.193000	0.70182	0.402000	0.26972	TTG		0.418	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		A	90126125	T	A	90126125	4	1	261	1	0	0	0	0	0	1	0	0	1798	1821	63	5	869	5	C15orf42	15	90126125	Nonsense_Mutation	SNP	T	TCGA-B4-5836-01A-11D-1669-08	38297664	90126125	12405267	75	15706											
WDR90	197335	broad.mit.edu	37	16	700677	700677	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr16:700677A>G	ENST00000293879.4	+	5	527	c.527A>G	c.(526-528)aAc>aGc	p.N176S	AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.N176S			Q96KV7	WDR90_HUMAN	WD repeat domain 90	176										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGTCAGGAACCTGTACACC	0.607																																																0													45	52	49					16																	700677		2057	4203	6260	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.527A>G	16.37:g.700677A>G	ENSP00000293879:p.Asn176Ser		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656592	0.29425	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.40476	1.03;1.03	4.83	1.24	0.21308	.	0.071433	0.52532	N	0.000066	T	0.36608	0.0973	L	0.48986	1.54	0.80722	D	1	P;P;P	0.47302	0.893;0.568;0.75	P;B;B	0.45037	0.467;0.334;0.432	T	0.05903	-1.0857	10	0.40728	T	0.16	.	7.7982	0.29160	0.7419:0.0:0.2581:0.0	.	176;176;176	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	S	176	ENSP00000448122:N176S;ENSP00000293879:N176S	ENSP00000293879:N176S	N	+	2	0	WDR90	640678	1.000000	0.71417	0.622000	0.29159	0.863000	0.49368	1.740000	0.38228	-0.050000	0.13356	0.379000	0.24179	AAC		0.607	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		G	700677	A	G	700677	3	3	261	1	0	0	0	0	1	0	0	0	17342	43	2	3	545	3	WDR90	16	700677	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08		700677	89654076	76	15707											
PRPF8	10594	broad.mit.edu	37	17	1577101	1577101	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:1577101T>A	ENST00000572621.1	-	21	3650	c.3385A>T	c.(3385-3387)Aat>Tat	p.N1129Y	PRPF8_ENST00000304992.6_Missense_Mutation_p.N1129Y			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1129	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCTTGTTATTATAGCCAACG	0.507																																																0													200	182	189					17																	1577101		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3385A>T	17.37:g.1577101T>A	ENSP00000460348:p.Asn1129Tyr		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.563166	0.86335	.	.	ENSG00000174231	ENST00000304992	T	0.81330	-1.48	5.45	5.45	0.79879	.	0.078228	0.85682	D	0.000000	D	0.90796	0.7110	M	0.93594	3.435	0.80722	D	1	P	0.49862	0.929	P	0.57057	0.812	D	0.92990	0.6414	10	0.72032	D	0.01	.	15.6711	0.77274	0.0:0.0:0.0:1.0	.	1129	Q6P2Q9	PRP8_HUMAN	Y	1129	ENSP00000304350:N1129Y	ENSP00000304350:N1129Y	N	-	1	0	PRPF8	1523851	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.864000	0.87037	2.285000	0.76669	0.477000	0.44152	AAT		0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			A	1577101	T	A	1577101	3	1	261	1	0	0	0	0	1	0	0	0	12580	1754	61	5	3710	5	PRPF8	17	1577101	Missense_Mutation	SNP	T	TCGA-B4-5836-01A-11D-1669-08		1577101	79618109	77	15708											
PIK3R6	146850	broad.mit.edu	37	17	8732128	8732128	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:8732128C>T	ENST00000311434.9	-	11	1308	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	357					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										TCAGGGCTGCCGGGTGCAGGC	0.682																																																0													16	18	17					17																	8732128		1944	4117	6061	SO:0001583	missense	146850			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1069G>A	17.37:g.8732128C>T	ENSP00000475670:p.Gly357Ser		Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37																																																																																					0.682	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		T	8732128	C	T	8732128	3	4	261	1	0	0	0	0	1	0	0	0	11925	652	23	1	1234	1	PIK3R6	17	8732128	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	7155027	8732128	72463082	78	15709											
MYOCD	93649	broad.mit.edu	37	17	12642618	12642618	+	Silent	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:12642618C>T	ENST00000343344.4	+	7	690	c.690C>T	c.(688-690)acC>acT	p.T230T	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.T230T|AC005358.1_ENST00000609971.1_Silent_p.T134T			Q8IZQ8	MYCD_HUMAN	myocardin	230					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCCAGCACCCCCATAGCCG	0.592																																																0													52	48	49					17																	12642618		2203	4300	6503	SO:0001819	synonymous_variant	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.690C>T	17.37:g.12642618C>T			Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	CCDS11163.1																																																																																				0.592	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		T	12642618	C	T	12642618	2	4	261	1	0	0	0	0	0	0	0	1	10089	610	22	2		2	MYOCD	17	12642618	Silent	SNP	C	TCGA-B4-5836-01A-11D-1669-08	3910490	12642618	68552592	79	15710											
PMP22	5376	broad.mit.edu	37	17	15134248	15134248	+	Missense_Mutation	SNP	G	G	A	rs28936682		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:15134248G>A	ENST00000395938.2	-	5	663	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000494511.1_Missense_Mutation_p.A97V|PMP22_ENST00000312280.3_Missense_Mutation_p.R157W	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	157			R -> G (in dbSNP:rs28936682). {ECO:0000269|PubMed:10632107}.|R -> W (in DSS; dbSNP:rs28936682). {ECO:0000269|PubMed:10211478}.		cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TCGCGTTTCCGCAAGATCACA	0.547																																																0			GRCh37	CM000029|CM991060	PMP22	M	rs28936682						83	80	81					17																	15134248		2203	4300	6503	SO:0001583	missense	5376			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.469C>T	17.37:g.15134248G>A	ENSP00000379269:p.Arg157Trp		Q8WV01	Missense_Mutation	SNP	ENST00000395938.2	37	CCDS11168.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783870	0.70222	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385	D;D	0.97016	-4.21;-4.21	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	M	0.86864	2.845	0.80722	A	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98866	1.0764	9	0.87932	D	0	-46.1731	14.0021	0.64439	0.0:0.0:0.8481:0.1518	rs28936682	157	Q01453	PMP22_HUMAN	W	157;157;146	ENSP00000379269:R157W;ENSP00000308937:R157W	ENSP00000308937:R157W	R	-	1	2	PMP22	15074973	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.081000	0.50120	2.630000	0.89119	0.563000	0.77884	CGG		0.547	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130378.1	NM_000304		A	15134248	G	A	15134248	3	1	261	1	0	0	0	0	1	0	0	0	12141	1086	38	1	17	1	PMP22	17	15134248	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	2491630	15134248	66060962	80	15711											
KRT34	3885	broad.mit.edu	37	17	39535273	39535273	+	Silent	SNP	G	G	A	rs141543111	byFrequency	TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:39535273G>A	ENST00000394001.1	-	6	1188	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	386	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GGGCACGCACGTCCAGCAGCA	0.582																																																0								A		5,4401		0,5,2198	173	145	155		1158	-10.1	0	17	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous	KRT34	NM_021013.3		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		386/437	39535273	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	3885			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1158C>T	17.37:g.39535273G>A			Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	37	CCDS11390.1																																																																																				0.582	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		A	39535273	G	A	39535273	2	1	261	1	0	0	0	0	0	0	0	1	8473	1136	40	1		1	KRT34	17	39535273	Silent	SNP	G	TCGA-B4-5836-01A-11D-1669-08	24401025	39535273	41659937	81	15712											
G6PC3	92579	broad.mit.edu	37	17	42148528	42148528	+	Silent	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:42148528G>A	ENST00000269097.4	+	1	426	c.195G>A	c.(193-195)gaG>gaA	p.E65E		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	65					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCATCACCGAGTGGCTCAACC	0.607																																																0													62	54	57					17																	42148528		2203	4300	6503	SO:0001819	synonymous_variant	92579			BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.195G>A	17.37:g.42148528G>A			Q8WU15	Silent	SNP	ENST00000269097.4	37	CCDS11476.1																																																																																				0.607	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		A	42148528	G	A	42148528	2	1	261	1	0	0	0	0	0	0	0	1	6147	1020	36	2		2	G6PC3	17	42148528	Silent	SNP	G	TCGA-B4-5836-01A-11D-1669-08	2613255	42148528	39046682	82	15713											
UTP18	51096	broad.mit.edu	37	17	49353345	49353345	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:49353345T>A	ENST00000225298.7	+	6	887	c.830T>A	c.(829-831)cTa>cAa	p.L277Q		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	277					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GCTGTATCACTATTTCAGGTA	0.378																																																0													87	86	86					17																	49353345		1886	4109	5995	SO:0001583	missense	51096			AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"WD repeat domain containing"	24274	protein-coding gene	gene with protein product		612816	"WD repeat domain 50"	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.830T>A	17.37:g.49353345T>A	ENSP00000225298:p.Leu277Gln		Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	T	34	5.306044	0.95629	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.20463	2.07	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52980	0.1768	M	0.86740	2.835	0.39339	D	0.965553	D	0.89917	1.0	D	0.87578	0.998	T	0.62520	-0.6837	10	0.87932	D	0	-12.4871	15.2117	0.73230	0.0:0.0:0.0:1.0	.	277	Q9Y5J1	UTP18_HUMAN	Q	277;253	ENSP00000225298:L277Q	ENSP00000225298:L277Q	L	+	2	0	UTP18	46708344	0.949000	0.32298	0.011000	0.14972	0.944000	0.59088	6.504000	0.73704	2.326000	0.78906	0.533000	0.62120	CTA		0.378	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		A	49353345	T	A	49353345	3	1	261	1	0	0	0	0	1	0	0	0	17103	1522	53	5	852	5	UTP18	17	49353345	Missense_Mutation	SNP	T	TCGA-B4-5836-01A-11D-1669-08	7204817	49353345	31841865	83	15714											
JMJD6	23210	broad.mit.edu	37	17	74716493	74716493	+	Silent	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:74716493G>A	ENST00000397625.4	-	5	1143	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	JMJD6_ENST00000585429.1_Intron|JMJD6_ENST00000445478.2_Silent_p.S343S	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	343	Ser-rich.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						AAGAGTCGCTGGAGCTGTCGG	0.577																																																0													73	87	82					17																	74716493		2116	4246	6362	SO:0001819	synonymous_variant	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.1029C>T	17.37:g.74716493G>A			B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Silent	SNP	ENST00000397625.4	37	CCDS42384.1																																																																																				0.577	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		A	74716493	G	A	74716493	2	1	261	1	0	0	0	0	0	0	0	1	7955	1335	47	2		2	JMJD6	17	74716493	Silent	SNP	G	TCGA-B4-5836-01A-11D-1669-08	25363148	74716493	6478717	84	15715											
RAB40B	10966	broad.mit.edu	37	17	80615875	80615875	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr17:80615875C>T	ENST00000571995.1	-	6	832	c.701G>A	c.(700-702)aGg>aAg	p.R234K	RAB40B_ENST00000538809.2_3'UTR|RAB40B_ENST00000571880.1_5'Flank|RAB40B_ENST00000269347.6_Missense_Mutation_p.R55K	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	234					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTGCATCATCCTGGCATTCAG	0.637																																																0													162	146	151					17																	80615875		2203	4300	6503	SO:0001583	missense	10966			U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"RAB, member RAS oncogene"	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.701G>A	17.37:g.80615875C>T	ENSP00000461785:p.Arg234Lys		Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	37	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731741	0.30684	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	4.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.66939	2.045	0.80722	D	1	B	0.14012	0.009	B	0.12156	0.007	T	0.53920	-0.8370	9	0.07990	T	0.79	.	14.5675	0.68188	0.1479:0.8521:0.0:0.0	.	234	Q12829	RB40B_HUMAN	K	234;268	.	ENSP00000269347:R234K	R	-	2	0	RAB40B	78209164	1.000000	0.71417	0.952000	0.39060	0.119000	0.20118	1.818000	0.39012	1.275000	0.44379	0.563000	0.77884	AGG		0.637	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			T	80615875	C	T	80615875	3	4	261	1	0	0	0	0	1	0	0	0	12947	681	24	2	139	2	RAB40B	17	80615875	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	5899382	80615875	579335	85	15716											
METTL4	64863	broad.mit.edu	37	18	2544671	2544671	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr18:2544671T>A	ENST00000574538.1	-	7	1937	c.1162A>T	c.(1162-1164)Aaa>Taa	p.K388*	METTL4_ENST00000319888.6_Nonsense_Mutation_p.K388*	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	388					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGAGCAGTTTTTTCTTGAACC	0.338																																																0													102	99	100					18																	2544671		2203	4300	6503	SO:0001587	stop_gained	64863				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1162A>T	18.37:g.2544671T>A	ENSP00000458290:p.Lys388*		B2RNA1|Q2TAA7|Q9H5U9	Nonsense_Mutation	SNP	ENST00000574538.1	37	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	T	41	8.790610	0.98954	.	.	ENSG00000101574	ENST00000319888	.	.	.	5.09	2.6	0.31112	.	0.515600	0.19891	N	0.103737	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-13.8949	8.5339	0.33351	0.0:0.1535:0.0:0.8465	.	.	.	.	X	388	.	ENSP00000320349:K388X	K	-	1	0	METTL4	2534671	0.770000	0.28543	0.080000	0.20451	0.979000	0.70002	1.395000	0.34520	0.247000	0.21414	0.482000	0.46254	AAA		0.338	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		A	2544671	T	A	2544671	4	1	261	1	0	0	0	0	0	1	0	0	9504	1850	64	5	268	5	METTL4	18	2544671	Nonsense_Mutation	SNP	T	TCGA-B4-5836-01A-11D-1669-08		2544671	75532577	86	15717											
LPIN2	9663	broad.mit.edu	37	18	2931293	2931293	+	Missense_Mutation	SNP	G	G	A	rs370896659		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr18:2931293G>A	ENST00000261596.4	-	9	1655	c.1417C>T	c.(1417-1419)Ctt>Ttt	p.L473F		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	473					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CCCCCGCAAAGGGAGAGGGTA	0.537																																																0													63	57	59					18																	2931293		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1417C>T	18.37:g.2931293G>A	ENSP00000261596:p.Leu473Phe		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489726	0.84962	.	.	ENSG00000101577	ENST00000261596	D	0.89746	-2.56	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95556	0.8625	10	0.87932	D	0	-21.0861	14.5953	0.68400	0.0694:0.0:0.9306:0.0	.	473	Q92539	LPIN2_HUMAN	F	473	ENSP00000261596:L473F	ENSP00000261596:L473F	L	-	1	0	LPIN2	2921293	1.000000	0.71417	0.736000	0.30914	0.959000	0.62525	5.181000	0.65054	2.815000	0.96918	0.650000	0.86243	CTT		0.537	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		A	2931293	G	A	2931293	3	1	261	1	0	0	0	0	1	0	0	0	8921	1000	35	2	1321	2	LPIN2	18	2931293	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	386622	2931293	75145955	87	15718											
ZNF397	84307	broad.mit.edu	37	18	32822516	32822516	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr18:32822516G>T	ENST00000330501.7	+	2	235	c.82G>T	c.(82-84)Gat>Tat	p.D28Y	ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000591206.1_Missense_Mutation_p.D28Y|ZNF397_ENST00000261333.6_Missense_Mutation_p.D28Y|ZNF397_ENST00000592264.1_Missense_Mutation_p.D28Y|ZNF397_ENST00000355632.4_Missense_Mutation_p.D28Y|ZNF397_ENST00000585800.1_Missense_Mutation_p.D28Y	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	28					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						GAAAGTAGAAGATAACTTTTC	0.413																																																0													57	62	60					18																	32822516		2203	4300	6503	SO:0001583	missense	84307			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"-", "Zinc fingers, C2H2-type"	18818	protein-coding gene	gene with protein product		609601	"zinc finger protein 47"	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.82G>T	18.37:g.32822516G>T	ENSP00000331577:p.Asp28Tyr		Q9BRM2	Missense_Mutation	SNP	ENST00000330501.7	37	CCDS45852.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025216	0.54683	.	.	ENSG00000186812	ENST00000261333;ENST00000330501;ENST00000355632	T;T;T	0.08458	4.15;3.09;4.15	3.91	3.91	0.45181	.	.	.	.	.	T	0.13798	0.0334	L	0.39898	1.24	0.37611	D	0.920929	D;P;D;P	0.58620	0.971;0.799;0.983;0.946	P;B;P;P	0.53809	0.641;0.328;0.735;0.648	T	0.02220	-1.1193	9	0.87932	D	0	.	11.6818	0.51461	0.0:0.0:1.0:0.0	.	28;28;28;28	Q96K65;Q8NF99;Q8NF99-2;Q8NF99-3	.;ZN397_HUMAN;.;.	Y	28	ENSP00000261333:D28Y;ENSP00000331577:D28Y;ENSP00000347850:D28Y	ENSP00000261333:D28Y	D	+	1	0	ZNF397	31076514	1.000000	0.71417	0.990000	0.47175	0.699000	0.40488	1.609000	0.36858	2.470000	0.83445	0.591000	0.81541	GAT		0.413	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347		T	32822516	G	T	32822516	3	4	261	1	0	0	0	0	1	0	0	0	17888	942	33	4	84	4	ZNF397	18	32822516	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	29891223	32822516	45254732	88	15719											
ATP13A1	57130	broad.mit.edu	37	19	19758234	19758234	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:19758234G>A	ENST00000357324.6	-	21	2923	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	ATP13A1_ENST00000291503.5_Missense_Mutation_p.S848F	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	966						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCACTGGATGGATGAGAGCTT	0.642																																					Esophageal Squamous(142;920 1789 9047 14684 24777)											0													98	84	89					19																	19758234		2203	4300	6503	SO:0001583	missense	57130			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2897C>T	19.37:g.19758234G>A	ENSP00000349877:p.Ser966Phe		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061658	0.76187	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.34472	1.36;1.36	5.23	5.23	0.72850	.	0.160412	0.64402	D	0.000018	T	0.66056	0.2751	M	0.89478	3.035	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.957;0.973	T	0.73591	-0.3934	10	0.87932	D	0	-35.3503	16.3589	0.83246	0.0:0.0:1.0:0.0	.	966;848	Q9HD20;Q9HD20-2	AT131_HUMAN;.	F	848;966	ENSP00000291503:S848F;ENSP00000349877:S966F	ENSP00000291503:S848F	S	-	2	0	ATP13A1	19619234	1.000000	0.71417	0.991000	0.47740	0.698000	0.40448	6.180000	0.71981	2.452000	0.82932	0.650000	0.86243	TCC		0.642	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		A	19758234	G	A	19758234	3	1	261	1	0	0	0	0	1	0	0	0	1123	1174	41	2	741	2	ATP13A1	19	19758234	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08		19758234	39370749	89	15720											
RHPN2	85415	broad.mit.edu	37	19	33471132	33471132	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:33471132T>A	ENST00000254260.3	-	15	1866	c.1831A>T	c.(1831-1833)Atg>Ttg	p.M611L	RHPN2_ENST00000400226.4_Missense_Mutation_p.M460L|RHPN2_ENST00000588683.1_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	611					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GTTTTCTGCATTCCCACGGAG	0.408																																																0													75	67	70					19																	33471132		2203	4297	6500	SO:0001583	missense	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1831A>T	19.37:g.33471132T>A	ENSP00000254260:p.Met611Leu		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811704	0.32053	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.38722	2.1;1.12	4.94	4.94	0.65067	.	0.087086	0.85682	D	0.000000	T	0.27524	0.0676	L	0.27975	0.815	0.46131	D	0.998887	B	0.06786	0.001	B	0.06405	0.002	T	0.10109	-1.0644	10	0.05436	T	0.98	2.0E-4	14.9184	0.70815	0.0:0.0:0.0:1.0	.	611	Q8IUC4	RHPN2_HUMAN	L	611;341;460	ENSP00000254260:M611L;ENSP00000402244:M460L	ENSP00000254260:M611L	M	-	1	0	RHPN2	38162972	1.000000	0.71417	0.986000	0.45419	0.888000	0.51559	3.365000	0.52335	1.979000	0.57680	0.472000	0.43445	ATG		0.408	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		A	33471132	T	A	33471132	3	1	261	1	0	0	0	0	1	0	0	0	13357	1493	52	5	233	5	RHPN2	19	33471132	Missense_Mutation	SNP	T	TCGA-B4-5836-01A-11D-1669-08	13712898	33471132	25657851	90	15721	124	2									
RHPN2	85415	broad.mit.edu	37	19	33471138	33471138	+	Missense_Mutation	SNP	C	C	G	rs147967421		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:33471138C>G	ENST00000254260.3	-	15	1860	c.1825G>C	c.(1825-1827)Gtg>Ctg	p.V609L	RHPN2_ENST00000400226.4_Missense_Mutation_p.V458L|RHPN2_ENST00000588683.1_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	609					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGCATTCCCACGGAGTATGTG	0.413																																																0													70	64	66					19																	33471138		2203	4296	6499	SO:0001583	missense	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1825G>C	19.37:g.33471138C>G	ENSP00000254260:p.Val609Leu		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734786	0.48939	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.43294	1.94;0.95	4.94	4.94	0.65067	.	0.169358	0.51477	D	0.000086	T	0.33585	0.0868	L	0.42245	1.32	0.40333	D	0.97894	B	0.17465	0.022	B	0.14578	0.011	T	0.13045	-1.0524	10	0.12430	T	0.62	-7.9469	13.9038	0.63821	0.0:0.9234:0.0:0.0766	.	609	Q8IUC4	RHPN2_HUMAN	L	609;339;458	ENSP00000254260:V609L;ENSP00000402244:V458L	ENSP00000254260:V609L	V	-	1	0	RHPN2	38162978	1.000000	0.71417	0.979000	0.43373	0.781000	0.44180	5.735000	0.68587	2.446000	0.82766	0.579000	0.79373	GTG		0.413	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		G	33471138	C	G	33471138	3	3	261	1	0	0	0	0	1	0	0	0	13357	536	19	4	239	4	RHPN2	19	33471138	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	6	33471138	25657845	91	15722	124	2									
TMEM91	641649	broad.mit.edu	37	19	41888745	41888745	+	Silent	SNP	C	C	T	rs200407337		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:41888745C>T	ENST00000392002.2	+	3	939	c.279C>T	c.(277-279)caC>caT	p.H93H	BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000604123.1_Silent_p.H150H|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000436170.2_Silent_p.H93H|TMEM91_ENST00000447302.2_Silent_p.H93H|TMEM91_ENST00000413014.2_Silent_p.H93H|TMEM91_ENST00000356385.4_Silent_p.H93H|TMEM91_ENST00000542945.1_Silent_p.H93H|TMEM91_ENST00000539627.1_Silent_p.H93H|TMEM91_ENST00000544232.1_Silent_p.H93H	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	93					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TTCTACCCCACGACCACCTCG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		17608	0.001		0.0	False		,,,				2504	0.0															0													459	464	463					19																	41888745		2124	4227	6351	SO:0001819	synonymous_variant	641649			AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 6"					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.279C>T	19.37:g.41888745C>T			C9J9D1|C9JZ62|C9K046|Q6P434	Silent	SNP	ENST00000392002.2	37	CCDS42571.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.918	0.737855	0.15574	.	.	ENSG00000142046	ENST00000546362;ENST00000535712	.	.	.	4.58	-7.51	0.01346	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0799	0.14651	0.1056:0.1636:0.1051:0.6257	.	.	.	.	X	41;14	.	.	R	+	1	2	TMEM91	46580585	0.231000	0.23751	0.823000	0.32752	0.777000	0.43975	-0.355000	0.07671	-1.078000	0.03117	-0.266000	0.10368	CGA		0.572	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			T	41888745	C	T	41888745	2	4	261	1	0	0	0	0	0	0	0	1	16225	535	19	1		1	TMEM91	19	41888745	Silent	SNP	C	TCGA-B4-5836-01A-11D-1669-08	8417607	41888745	17240238	92	15723											
ZNF404	342908	broad.mit.edu	37	19	44377272	44377272	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:44377272C>T	ENST00000587539.1	-	3	1093	c.1094G>A	c.(1093-1095)tGt>tAt	p.C365Y	ZNF404_ENST00000324394.6_Missense_Mutation_p.C363Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGAGCCTCTACAAAAGGCCTT	0.383																																																0													37	42	40					19																	44377272		2150	4274	6424	SO:0001583	missense	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1094G>A	19.37:g.44377272C>T	ENSP00000466051:p.Cys365Tyr		A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	7.232	0.599438	0.13939	.	.	ENSG00000176222	ENST00000324394	T	0.39997	1.05	2.27	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20536	0.0494	N	0.11560	0.145	0.09310	N	1	B	0.23490	0.086	B	0.14023	0.01	T	0.15983	-1.0418	9	0.44086	T	0.13	.	5.1751	0.15131	0.2111:0.3888:0.4001:0.0	.	365	Q494X3	ZN404_HUMAN	Y	363	ENSP00000319479:C363Y	ENSP00000319479:C363Y	C	-	2	0	ZNF404	49069112	0.000000	0.05858	0.517000	0.27799	0.599000	0.36880	-2.965000	0.00670	0.225000	0.20959	0.404000	0.27445	TGT		0.383	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		T	44377272	C	T	44377272	3	4	261	1	0	0	0	0	1	0	0	0	17891	478	17	2	568	2	ZNF404	19	44377272	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	2488527	44377272	14751711	93	15724											
SIX5	147912	broad.mit.edu	37	19	46268862	46268862	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:46268862A>G	ENST00000317578.6	-	3	2498	c.2117T>C	c.(2116-2118)cTg>cCg	p.L706P	SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	706					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GGTGGCCCCCAGGAGCAGCCC	0.677																																																0													46	53	50					19																	46268862		2203	4300	6503	SO:0001583	missense	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.2117T>C	19.37:g.46268862A>G	ENSP00000316842:p.Leu706Pro			Missense_Mutation	SNP	ENST00000317578.6	37	CCDS12673.1	.	.	.	.	.	.	.	.	.	.	a	19.24	3.789237	0.70337	.	.	ENSG00000177045	ENST00000317578	D	0.92858	-3.12	4.45	4.45	0.53987	.	1.571050	0.03829	N	0.268793	D	0.92034	0.7476	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84184	0.0441	10	0.87932	D	0	-9.23	10.0307	0.42099	1.0:0.0:0.0:0.0	.	706	Q8N196	SIX5_HUMAN	P	706	ENSP00000316842:L706P	ENSP00000316842:L706P	L	-	2	0	SIX5	50960702	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.923000	0.75817	1.878000	0.54408	0.459000	0.35465	CTG		0.677	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		G	46268862	A	G	46268862	3	3	261	1	0	0	0	0	1	0	0	0	14356	188	7	3	106	3	SIX5	19	46268862	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08	1891590	46268862	12860121	94	15725											
ZNF460	10794	broad.mit.edu	37	19	57803200	57803200	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr19:57803200C>A	ENST00000360338.3	+	3	1613	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	ZNF460_ENST00000537645.1_Missense_Mutation_p.R390S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCTTTTACCCGCATGTCAGG	0.478																																																0													80	77	78					19																	57803200		2203	4300	6503	SO:0001583	missense	10794			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1291C>A	19.37:g.57803200C>A	ENSP00000353491:p.Arg431Ser		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348992	0.41599	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.16743	2.32;2.32	1.68	0.533	0.17121	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	N	0.03999	-0.3	0.09310	N	1	B	0.33739	0.422	B	0.29077	0.098	T	0.28902	-1.0029	9	0.32370	T	0.25	.	0.7668	0.01016	0.2428:0.3551:0.2387:0.1633	.	431	Q14592	ZN460_HUMAN	S	390;431	ENSP00000446167:R390S;ENSP00000353491:R431S	ENSP00000353491:R431S	R	+	1	0	ZNF460	62495012	0.000000	0.05858	0.032000	0.17829	0.954000	0.61252	-0.802000	0.04545	0.225000	0.20959	0.650000	0.86243	CGC		0.478	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		A	57803200	C	A	57803200	3	1	261	1	0	0	0	0	1	0	0	0	17929	652	23	4	1301	4	ZNF460	19	57803200	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	11534338	57803200	1325783	95	15726											
ESF1	51575	broad.mit.edu	37	20	13695669	13695669	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr20:13695669T>C	ENST00000202816.1	-	14	2515	c.2408A>G	c.(2407-2409)gAa>gGa	p.E803G		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	803	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTGAGTAAGTTCTTGTTCTTT	0.368																																																0													205	191	196					20																	13695669		2203	4300	6503	SO:0001583	missense	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2408A>G	20.37:g.13695669T>C	ENSP00000202816:p.Glu803Gly		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.594432	0.28445	.	.	ENSG00000089048	ENST00000202816	T	0.49720	0.77	5.9	2.41	0.29592	.	0.865759	0.10168	N	0.707495	T	0.33352	0.0860	L	0.36672	1.1	0.22366	N	0.999161	B	0.02656	0.0	B	0.04013	0.001	T	0.27054	-1.0085	10	0.24483	T	0.36	-18.9705	4.6575	0.12624	0.1297:0.2733:0.0:0.5969	.	803	Q9H501	ESF1_HUMAN	G	803	ENSP00000202816:E803G	ENSP00000202816:E803G	E	-	2	0	ESF1	13643669	0.998000	0.40836	0.943000	0.38184	0.756000	0.42949	1.144000	0.31565	0.142000	0.18901	0.528000	0.53228	GAA		0.368	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		C	13695669	T	C	13695669	3	2	261	1	0	0	0	0	1	0	0	0	5253	1783	62	3	151	3	ESF1	20	13695669	Missense_Mutation	SNP	T	TCGA-B4-5836-01A-11D-1669-08		13695669	49329851	96	15727											
EYA2	2139	broad.mit.edu	37	20	45618709	45618709	+	Silent	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr20:45618709G>C	ENST00000327619.5	+	2	434	c.60G>C	c.(58-60)ctG>ctC	p.L20L	EYA2_ENST00000357410.3_Silent_p.L20L|EYA2_ENST00000317304.6_Silent_p.L20L|EYA2_ENST00000497428.1_3'UTR	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	20					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TGGATAAACTGAAGTTTAACC	0.453																																					Pancreas(120;56 1725 18501 25218 43520)											0													152	136	142					20																	45618709		2203	4300	6503	SO:0001819	synonymous_variant	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.60G>C	20.37:g.45618709G>C			Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	CCDS13403.1																																																																																				0.453	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		C	45618709	G	C	45618709	2	2	261	1	0	0	0	0	0	0	0	1	5331	1277	45	4		4	EYA2	20	45618709	Silent	SNP	G	TCGA-B4-5836-01A-11D-1669-08	31923040	45618709	17406811	97	15728											
LCA5L	150082	broad.mit.edu	37	21	40795155	40795155	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr21:40795155T>C	ENST00000358268.2	-	5	1112	c.584A>G	c.(583-585)aAt>aGt	p.N195S	LCA5L_ENST00000485895.2_Missense_Mutation_p.N195S|LCA5L_ENST00000288350.3_Missense_Mutation_p.N195S|LCA5L_ENST00000380671.2_Missense_Mutation_p.N195S			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	195										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTGAGGTAGATTATTTTGTGA	0.318																																																0													93	89	90					21																	40795155		2203	4299	6502	SO:0001583	missense	150082			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.584A>G	21.37:g.40795155T>C	ENSP00000351008:p.Asn195Ser		D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376442	0.61735	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.76839	-1.05;-1.05;-1.05	4.95	4.95	0.65309	.	0.321794	0.29791	N	0.011199	D	0.83594	0.5288	M	0.61703	1.905	0.25027	N	0.991293	D	0.76494	0.999	D	0.71414	0.973	T	0.74432	-0.3667	10	0.23302	T	0.38	-35.9396	11.3409	0.49533	0.1357:0.0:0.0:0.8643	.	195	O95447	LCA5L_HUMAN	S	195	ENSP00000288350:N195S;ENSP00000370046:N195S;ENSP00000351008:N195S	ENSP00000288350:N195S	N	-	2	0	LCA5L	39717025	0.613000	0.27009	0.999000	0.59377	0.975000	0.68041	3.079000	0.50104	1.980000	0.57719	0.533000	0.62120	AAT		0.318	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505		C	40795155	T	C	40795155	3	2	261	1	0	0	0	0	1	0	0	0	8659	1493	52	3	1452	3	LCA5L	21	40795155	Missense_Mutation	SNP	T	TCGA-B4-5836-01A-11D-1669-08		40795155	7334740	98	15729											
HPS4	89781	broad.mit.edu	37	22	26873048	26873048	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr22:26873048A>T	ENST00000398145.2	-	4	803	c.187T>A	c.(187-189)Tgt>Agt	p.C63S	HPS4_ENST00000336873.5_Missense_Mutation_p.C63S|HPS4_ENST00000398141.1_Missense_Mutation_p.C58S|HPS4_ENST00000402105.3_Missense_Mutation_p.C58S	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	63					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAGAAACACAGCGGACAACT	0.438									Hermansky-Pudlak syndrome																																							0													96	88	91					22																	26873048		2203	4300	6503	SO:0001583	missense	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.187T>A	22.37:g.26873048A>T	ENSP00000381213:p.Cys63Ser		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059236	0.76074	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.999	D	0.96002	0.8994	10	0.66056	D	0.02	-19.5151	14.4442	0.67338	1.0:0.0:0.0:0.0	.	63;58;63;58	Q6ICH6;E5RG08;Q9NQG7;Q9NQG7-3	.;.;HPS4_HUMAN;.	S	63;58;58;63;63;63	ENSP00000381213:C63S;ENSP00000381210:C58S;ENSP00000384185:C58S;ENSP00000338457:C63S;ENSP00000415081:C63S	ENSP00000325840:C63S	C	-	1	0	HPS4	25203048	1.000000	0.71417	0.991000	0.47740	0.418000	0.31294	7.353000	0.79414	2.279000	0.76181	0.533000	0.62120	TGT		0.438	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		T	26873048	A	T	26873048	3	4	261	1	0	0	0	0	1	0	0	0	7343	188	7	5	1983	5	HPS4	22	26873048	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08		26873048	24431518	99	15730											
MCM5	4174	broad.mit.edu	37	22	35812725	35812725	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr22:35812725A>G	ENST00000216122.4	+	12	1662	c.1508A>G	c.(1507-1509)aAc>aGc	p.N503S	MCM5_ENST00000382011.5_Missense_Mutation_p.N460S	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	503	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGGAGGACAACATTGACTTC	0.582																																																0													140	108	119					22																	35812725		2203	4300	6503	SO:0001583	missense	4174				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1508A>G	22.37:g.35812725A>G	ENSP00000216122:p.Asn503Ser		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	A	32	5.117834	0.94385	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.09255	3.0;3.0	5.77	5.77	0.91146	.	0.084340	0.85682	D	0.000000	T	0.46014	0.1371	H	0.97240	3.965	0.80722	D	1	P;P;P;P	0.50710	0.938;0.938;0.938;0.938	P;P;P;P	0.58780	0.835;0.835;0.845;0.835	T	0.65545	-0.6142	10	0.87932	D	0	-27.9912	16.1536	0.81640	1.0:0.0:0.0:0.0	.	503;503;460;503	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	S	503;460	ENSP00000216122:N503S;ENSP00000371441:N460S	ENSP00000216122:N503S	N	+	2	0	MCM5	34142725	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.173000	0.94815	2.214000	0.71695	0.529000	0.55759	AAC		0.582	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			G	35812725	A	G	35812725	3	3	261	1	0	0	0	0	1	0	0	0	9392	43	2	3	1550	3	MCM5	22	35812725	Missense_Mutation	SNP	A	TCGA-B4-5836-01A-11D-1669-08	8939677	35812725	15491841	100	15731											
FAM83F	113828	broad.mit.edu	37	22	40417856	40417856	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chr22:40417856delA	ENST00000333407.6	+	4	1436	c.1342delA	c.(1342-1344)aagfs	p.K448fs	FAM83F_ENST00000473717.1_Frame_Shift_Del_p.K280fs	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	448										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TCGCCGAGCCAAGAGGCCTGC	0.667																																																0													29	36	34					22																	40417856		2181	4289	6470	SO:0001589	frameshift_variant	113828				CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1342delA	22.37:g.40417856delA	ENSP00000330432:p.Lys448fs		Q96FD6	Frame_Shift_Del	DEL	ENST00000333407.6	37	CCDS14000.2																																																																																				0.667	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		-	40417856	A	-	40417856	7	5	261	1	0	1	0	1	0	0	0	0	5640	131	5	0	1356	0	FAM83F	22	40417856	Frame_Shift_Del	DEL	A	TCGA-B4-5836-01A-11D-1669-08	4605131	40417856	10886710	101	15732											
FAM47C	442444	broad.mit.edu	37	X	37026817	37026817	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:37026817C>T	ENST00000358047.3	+	1	386	c.334C>T	c.(334-336)Cca>Tca	p.P112S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	112										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCAGCACAGCCAGCACGGAA	0.542																																																0													91	84	87					X																	37026817		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.334C>T	X.37:g.37026817C>T	ENSP00000367913:p.Pro112Ser		Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339434	0.24339	.	.	ENSG00000198173	ENST00000358047	T	0.22134	1.97	0.502	0.502	0.16932	.	.	.	.	.	T	0.21881	0.0527	L	0.44542	1.39	0.09310	N	1	P	0.43938	0.822	P	0.47864	0.559	T	0.13229	-1.0517	9	0.44086	T	0.13	.	6.651	0.22961	0.0:0.9999:0.0:1.0E-4	.	112	Q5HY64	FA47C_HUMAN	S	112	ENSP00000367913:P112S	ENSP00000367913:P112S	P	+	1	0	FAM47C	36936738	0.120000	0.22244	0.001000	0.08648	0.002000	0.02628	1.371000	0.34250	0.479000	0.27511	0.292000	0.19580	CCA		0.542	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		T	37026817	C	T	37026817	3	4	261	1	0	0	0	0	1	0	0	0	5573	739	26	2	336	2	FAM47C	23	37026817	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08		37026817	118243743	102	15733											
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053															2	Deletion - In frame(2)	prostate(2)																																								SO:0001651	inframe_deletion	8406			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del	875	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		-	38079978	GCA	-	38079976	7	5	261	1	0	1	0	1	0	0	0	0	15169	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-B4-5836-01A-11D-1669-08	1053159	38079976	117190584	103	15734											
MED12	9968	broad.mit.edu	37	X	70345894	70345894	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:70345894G>A	ENST00000374080.3	+	18	2463	c.2431G>A	c.(2431-2433)Gat>Aat	p.D811N	MED12_ENST00000333646.6_Missense_Mutation_p.D811N|MED12_ENST00000374102.1_Missense_Mutation_p.D811N			Q93074	MED12_HUMAN	mediator complex subunit 12	811					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGGTGGGGAGGATGGGCAGAA	0.542			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													126	116	119					X																	70345894		1953	4118	6071	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2431G>A	X.37:g.70345894G>A	ENSP00000363193:p.Asp811Asn		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	15.70	2.910114	0.52439	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	4.61	4.61	0.57282	.	0.056864	0.64402	D	0.000001	T	0.63698	0.2533	N	0.08118	0	0.50467	D	0.999876	B;B;B;B	0.27068	0.082;0.167;0.137;0.084	B;B;B;B	0.31614	0.133;0.023;0.104;0.063	T	0.63967	-0.6517	10	0.42905	T	0.14	-11.8347	16.8049	0.85623	0.0:0.0:1.0:0.0	.	811;658;811;811	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	N	811;811;811;811;779	ENSP00000333125:D811N;ENSP00000363215:D811N;ENSP00000363193:D811N;ENSP00000414203:D779N	ENSP00000333125:D811N	D	+	1	0	MED12	70262619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.978000	0.93450	2.142000	0.66516	0.462000	0.41574	GAT		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		A	70345894	G	A	70345894	3	1	261	1	0	0	0	0	1	0	0	0	9430	1174	41	2	2501	2	MED12	23	70345894	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	32265918	70345894	84924666	104	15735											
PHKA1	5255	broad.mit.edu	37	X	71813085	71813085	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:71813085G>C	ENST00000373542.4	-	29	3271	c.3112C>G	c.(3112-3114)Cct>Gct	p.P1038A	PHKA1_ENST00000373539.3_Missense_Mutation_p.P1055A|PHKA1_ENST00000373545.3_Missense_Mutation_p.P996A|PHKA1_ENST00000339490.3_Missense_Mutation_p.P1025A|PHKA1_ENST00000541944.1_Missense_Mutation_p.P966A	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1038					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TATGCACTAGGAAAGGACCCA	0.438																																																0													89	78	82					X																	71813085		2203	4300	6503	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3112C>G	X.37:g.71813085G>C	ENSP00000362643:p.Pro1038Ala		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	0.116	-1.132493	0.01756	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94	5.05	0.695	0.18070	.	1.148540	0.06357	N	0.711025	D	0.85483	0.5707	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.17667	0.017;0.0;0.023;0.004	B;B;B;B	0.20577	0.006;0.0;0.03;0.007	T	0.69154	-0.5220	10	0.24483	T	0.36	0.0158	4.1699	0.10324	0.2094:0.0:0.3021:0.4884	.	966;996;1025;1038	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	A	996;1038;966;1025;1055	ENSP00000362646:P996A;ENSP00000362643:P1038A;ENSP00000441251:P966A;ENSP00000342469:P1025A;ENSP00000362640:P1055A	ENSP00000342469:P1025A	P	-	1	0	PHKA1	71729810	0.000000	0.05858	0.105000	0.21289	0.083000	0.17756	-0.214000	0.09292	0.058000	0.16222	-0.199000	0.12753	CCT		0.438	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			C	71813085	G	C	71813085	3	2	261	1	0	0	0	0	1	0	0	0	11845	1174	41	4	575	4	PHKA1	23	71813085	Missense_Mutation	SNP	G	TCGA-B4-5836-01A-11D-1669-08	1467191	71813085	83457475	105	15736											
SLC16A2	6567	broad.mit.edu	37	X	73745646	73745646	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:73745646T>C	ENST00000587091.1	+	4	1265	c.1088T>C	c.(1087-1089)aTt>aCt	p.I363T	SLC16A2_ENST00000276033.5_Missense_Mutation_p.I437T	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	363					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTGGTGTGTATTGGGGCTACC	0.507																																																0													199	168	178					X																	73745646		2203	4300	6503	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1088T>C	X.37:g.73745646T>C	ENSP00000465734:p.Ile363Thr		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	T	18.58	3.655523	0.67586	.	.	ENSG00000147100	ENST00000276033	T	0.57907	0.37	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.087067	0.39687	U	0.001297	T	0.70736	0.3258	M	0.73430	2.235	0.52099	D	0.999942	D	0.63880	0.993	D	0.69142	0.962	T	0.75167	-0.3413	10	0.87932	D	0	.	13.8619	0.63566	0.0:0.0:0.0:1.0	.	363	P36021	MOT8_HUMAN	T	437	ENSP00000276033:I437T	ENSP00000276033:I437T	I	+	2	0	SLC16A2	73662371	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.695000	0.84257	1.647000	0.50633	0.483000	0.47432	ATT		0.507	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			C	73745646	T	C	73745646	3	2	261	1	0	0	0	0	1	0	0	0	14414	1493	52	3	1324	3	SLC16A2	23	73745646	Missense_Mutation	SNP	T	TCGA-B4-5836-01A-11D-1669-08	1932561	73745646	81524914	106	15737											
GPRASP1	9737	broad.mit.edu	37	X	101911485	101911487	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:101911485_101911487delGAA	ENST00000361600.5	+	5	3445_3447	c.2644_2646delGAA	c.(2644-2646)gaadel	p.E884del	GPRASP1_ENST00000537097.1_In_Frame_Del_p.E884del|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_In_Frame_Del_p.E884del|GPRASP1_ENST00000444152.1_In_Frame_Del_p.E884del	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	884	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTTCTGGCCTGAAGAAGAAGCCA	0.527																																																0																																										SO:0001651	inframe_deletion	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2644_2646delGAA	X.37:g.101911491_101911493delGAA	ENSP00000355146:p.Glu884del		O43168|Q96LA1	In_Frame_Del	DEL	ENST00000361600.5	37	CCDS35352.1																																																																																				0.527	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		-	101911487	GAA	-	101911485	7	5	261	1	0	1	0	1	0	0	0	0	6724	1291	45	0	2646	0	GPRASP1	23	101911485	In_Frame_Del	DEL	GAA	TCGA-B4-5836-01A-11D-1669-08	28165839	101911485	53359075	107	15738											
SAGE1	55511	broad.mit.edu	37	X	134978476	134978476	+	Silent	SNP	A	A	C			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:134978476A>C	ENST00000370709.3	+	1	75	c.75A>C	c.(73-75)acA>acC	p.T25T	SAGE1_ENST00000537770.1_Silent_p.T25T|SAGE1_ENST00000324447.3_Silent_p.T25T|SAGE1_ENST00000535938.1_Silent_p.T25T			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	25						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGTGTTTACAAATGATGGGC	0.368																																																0													102	84	90					X																	134978476		2203	4300	6503	SO:0001819	synonymous_variant	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.75A>C	X.37:g.134978476A>C			Q5JNW0	Silent	SNP	ENST00000370709.3	37	CCDS14652.1																																																																																				0.368	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		C	134978476	A	C	134978476	2	2	261	1	0	0	0	0	0	0	0	1	13815	117	5	5		5	SAGE1	23	134978476	Silent	SNP	A	TCGA-B4-5836-01A-11D-1669-08	33066991	134978476	20292084	108	15739											
MECP2	4204	broad.mit.edu	37	X	153296615	153296615	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5836-01A-11D-1669-08	TCGA-B4-5836-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0a52d36-24e6-4b0c-ba1b-d8e2919005b7	703104ed-f51f-4431-be13-5d4b3d542b46	g.chrX:153296615C>A	ENST00000303391.6	-	4	913	c.664G>T	c.(664-666)Gtc>Ttc	p.V222F	MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.V234F	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	222					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATCTTGACAAGGAGCTTC	0.627																																																0													131	133	132					X																	153296615		2203	4300	6503	SO:0001583	missense	4204			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.664G>T	X.37:g.153296615C>A	ENSP00000301948:p.Val222Phe		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009105	0.75046	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964	D;D	0.94828	-3.52;-3.53	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.95497	0.8537	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	D	0.96228	0.9166	10	0.66056	D	0.02	-15.8118	17.0301	0.86458	0.0:1.0:0.0:0.0	.	234;222	P51608-2;P51608	.;MECP2_HUMAN	F	222;222;234;222	ENSP00000301948:V222F;ENSP00000395535:V234F	ENSP00000301948:V222F	V	-	1	0	MECP2	152949809	1.000000	0.71417	0.930000	0.37139	0.977000	0.68977	7.297000	0.78799	2.285000	0.76669	0.600000	0.82982	GTC		0.627	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		A	153296615	C	A	153296615	3	1	261	1	0	0	0	0	1	0	0	0	9425	478	17	4	800	4	MECP2	23	153296615	Missense_Mutation	SNP	C	TCGA-B4-5836-01A-11D-1669-08	18318139	153296615	1973945	109	15740											
LRIG2	9860	broad.mit.edu	37	1	113661909	113661909	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr1:113661909A>T	ENST00000361127.5	+	17	2933	c.2735A>T	c.(2734-2736)tAc>tTc	p.Y912F	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	912					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GCCAACATCTACTCCAGGACC	0.423																																																0													145	136	139					1																	113661909		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2735A>T	1.37:g.113661909A>T	ENSP00000355396:p.Tyr912Phe		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142946	0.77888	.	.	ENSG00000198799	ENST00000361127	T	0.71817	-0.6	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.79693	2.465	0.51767	D	0.999933	P	0.36027	0.533	B	0.34722	0.188	T	0.63462	-0.6632	10	0.20046	T	0.44	.	15.3924	0.74755	1.0:0.0:0.0:0.0	.	912	O94898	LRIG2_HUMAN	F	912	ENSP00000355396:Y912F	ENSP00000355396:Y912F	Y	+	2	0	LRIG2	113463432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.662000	0.91130	2.090000	0.63153	0.533000	0.62120	TAC		0.423	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		T	113661909	A	T	113661909	3	4	262	1	0	0	0	0	1	0	0	0	8947	391	14	5	2801	5	LRIG2	1	113661909	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08		113661909	135588712	1	15741											
PI4KB	5298	broad.mit.edu	37	1	151288321	151288321	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr1:151288321C>T	ENST00000368873.1	-	2	805	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	PI4KB_ENST00000368872.1_Missense_Mutation_p.A213T|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368875.2_Missense_Mutation_p.A225T|PI4KB_ENST00000368874.4_Missense_Mutation_p.A213T|PI4KB_ENST00000271657.5_Missense_Mutation_p.A225T			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	213	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCAACAGGGCACACTGGAGG	0.507																																					Colon(154;765 1838 9854 28443 37492)											0													107	93	98					1																	151288321		2203	4300	6503	SO:0001583	missense	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.637G>A	1.37:g.151288321C>T	ENSP00000357867:p.Ala213Thr		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.448425	0.84101	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	L	0.59436	1.845	0.80722	D	1	D;D;D	0.60575	0.988;0.973;0.967	P;P;P	0.60949	0.881;0.654;0.813	T	0.64521	-0.6388	10	0.23891	T	0.37	-16.9128	16.679	0.85287	0.0:1.0:0.0:0.0	.	213;213;213	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	T	213;225;225;213;213;213	ENSP00000357868:A213T;ENSP00000357869:A225T;ENSP00000271657:A225T;ENSP00000357867:A213T;ENSP00000357866:A213T;ENSP00000394719:A213T	ENSP00000271657:A225T	A	-	1	0	PI4KB	149554945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.556000	0.82233	2.504000	0.84457	0.561000	0.74099	GCC		0.507	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		T	151288321	C	T	151288321	3	4	262	1	0	0	0	0	1	0	0	0	11876	710	25	2	1857	2	PI4KB	1	151288321	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	37626412	151288321	97962300	2	15742											
DCST2	127579	broad.mit.edu	37	1	155004243	155004243	+	Silent	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr1:155004243C>T	ENST00000368424.3	-	4	604	c.546G>A	c.(544-546)agG>agA	p.R182R	DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Silent_p.R182R	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	182						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCGGAGAGCCCTGGCTGGGG	0.582																																																0													31	28	29					1																	155004243		2203	4298	6501	SO:0001819	synonymous_variant	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.546G>A	1.37:g.155004243C>T			Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	CCDS1082.2																																																																																				0.582	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		T	155004243	C	T	155004243	2	4	262	1	0	0	0	0	0	0	0	1	4305	622	22	2		2	DCST2	1	155004243	Silent	SNP	C	TCGA-B4-5838-01A-11D-1669-08	3715922	155004243	94246378	3	15743											
IQGAP3	128239	broad.mit.edu	37	1	156521627	156521627	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr1:156521627A>G	ENST00000361170.2	-	15	1614	c.1604T>C	c.(1603-1605)cTg>cCg	p.L535P		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	535					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTTTGTCCAGAGCCTCATT	0.572																																																0													68	66	67					1																	156521627		2203	4300	6503	SO:0001583	missense	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1604T>C	1.37:g.156521627A>G	ENSP00000354451:p.Leu535Pro		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123259	0.77436	.	.	ENSG00000183856	ENST00000361170	T	0.10960	2.82	4.76	4.76	0.60689	.	0.102711	0.41097	D	0.000956	T	0.25121	0.0610	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.04140	-1.0974	10	0.87932	D	0	-11.0252	13.1267	0.59360	1.0:0.0:0.0:0.0	.	535	Q86VI3	IQGA3_HUMAN	P	535	ENSP00000354451:L535P	ENSP00000354451:L535P	L	-	2	0	IQGAP3	154788251	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.940000	0.92958	1.791000	0.52520	0.402000	0.26972	CTG		0.572	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		G	156521627	A	G	156521627	3	3	262	1	0	0	0	0	1	0	0	0	7818	188	7	3	3387	3	IQGAP3	1	156521627	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	1517384	156521627	92728994	4	15744											
OR6F1	343169	broad.mit.edu	37	1	247875312	247875312	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr1:247875312A>G	ENST00000302084.2	-	1	793	c.746T>C	c.(745-747)cTc>cCc	p.L249P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATACCAAATGAGCACCACGGT	0.537																																																0													108	100	103					1																	247875312		2203	4300	6503	SO:0001583	missense	343169			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.746T>C	1.37:g.247875312A>G	ENSP00000305640:p.Leu249Pro		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	A	7.483	0.649171	0.14516	.	.	ENSG00000169214	ENST00000302084	T	0.40476	1.03	3.72	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39341	N	0.001398	T	0.51312	0.1667	M	0.64404	1.975	0.23920	N	0.996462	D	0.76494	0.999	D	0.69479	0.964	T	0.37820	-0.9689	10	0.66056	D	0.02	-41.0015	2.8629	0.05592	0.5634:0.2552:0.1814:0.0	.	249	Q8NGZ6	OR6F1_HUMAN	P	249	ENSP00000305640:L249P	ENSP00000305640:L249P	L	-	2	0	OR6F1	245941935	0.000000	0.05858	0.050000	0.19076	0.007000	0.05969	-0.343000	0.07791	1.672000	0.50884	0.482000	0.46254	CTC		0.537	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		G	247875312	A	G	247875312	3	3	262	1	0	0	0	0	1	0	0	0	11203	304	11	3	184	3	OR6F1	1	247875312	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	91353685	247875312	1375309	5	15745											
MGAT4A	11320	broad.mit.edu	37	2	99294822	99294822	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr2:99294822G>C	ENST00000264968.3	-	2	570	c.207C>G	c.(205-207)ttC>ttG	p.F69L	MGAT4A_ENST00000393487.1_Missense_Mutation_p.F69L|MGAT4A_ENST00000409391.1_Missense_Mutation_p.F69L			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	69					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTACACGCTTGAACTGTTGCA	0.333																																																0													119	115	116					2																	99294822		2203	4300	6503	SO:0001583	missense	11320			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.207C>G	2.37:g.99294822G>C	ENSP00000264968:p.Phe69Leu		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516411	0.44763	.	.	ENSG00000071073	ENST00000393487;ENST00000264968;ENST00000409391	T;T;T	0.19250	2.16;2.16;2.16	5.59	1.81	0.25067	.	0.043508	0.85682	D	0.000000	T	0.29458	0.0734	L	0.46157	1.445	0.52501	D	0.999951	D	0.58268	0.982	D	0.67548	0.952	T	0.12941	-1.0528	10	0.08599	T	0.76	.	9.7554	0.40500	0.28:0.0:0.72:0.0	.	69	Q9UM21	MGT4A_HUMAN	L	69	ENSP00000377127:F69L;ENSP00000264968:F69L;ENSP00000386841:F69L	ENSP00000264968:F69L	F	-	3	2	MGAT4A	98661254	1.000000	0.71417	0.146000	0.22360	0.926000	0.56050	3.628000	0.54259	0.055000	0.16094	-0.228000	0.12330	TTC		0.333	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		C	99294822	G	C	99294822	3	2	262	1	0	0	0	0	1	0	0	0	9547	1281	45	4	1558	4	MGAT4A	2	99294822	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08		99294822	143904551	6	15746											
LIMS2	55679	broad.mit.edu	37	2	128398541	128398547	+	Frame_Shift_Del	DEL	TCACACT	TCACACT	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr2:128398541_128398547delTCACACT	ENST00000355119.4	-	7	842_848	c.677_683delAGTGTGA	c.(676-684)aagtgtgagfs	p.KCE226fs	LIMS2_ENST00000409455.1_Frame_Shift_Del_p.KCE221fs|LIMS2_ENST00000494613.1_5'Flank|LIMS2_ENST00000545738.2_Frame_Shift_Del_p.KCE248fs|LIMS2_ENST00000409254.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000409286.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000409754.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000410011.1_Frame_Shift_Del_p.KCE221fs|LIMS2_ENST00000410038.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000409808.2_Frame_Shift_Del_p.KCE221fs|LIMS2_ENST00000324938.5_Frame_Shift_Del_p.KCE250fs	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	226	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GAATGGCTTCTCACACTTGGCACAGAC	0.614																																																0																																										SO:0001589	frameshift_variant	55679			AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.677_683delAGTGTGA	2.37:g.128398541_128398547delTCACACT	ENSP00000347240:p.Lys226fs		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Frame_Shift_Del	DEL	ENST00000355119.4	37	CCDS54395.1																																																																																				0.614	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		-	128398547	TCACACT	-	128398541	7	5	262	1	0	1	0	1	0	0	0	0	8806	1551	54	0	358	0	LIMS2	2	128398541	Frame_Shift_Del	DEL	TCACACT	TCGA-B4-5838-01A-11D-1669-08	29103719	128398541	114800832	7	15747											
UBXN4	23190	broad.mit.edu	37	2	136511791	136511791	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr2:136511791A>C	ENST00000272638.9	+	4	588	c.277A>C	c.(277-279)Ata>Cta	p.I93L	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	93					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTTGGAAGTAATAGCAGGAAG	0.403																																																0													176	164	168					2																	136511791		1880	4129	6009	SO:0001583	missense	23190			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.277A>C	2.37:g.136511791A>C	ENSP00000272638:p.Ile93Leu		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673784	0.67928	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.39592	1.07	5.71	5.71	0.89125	Thioredoxin-like fold (2);	0.044629	0.85682	D	0.000000	T	0.37839	0.1018	L	0.45698	1.435	0.58432	D	0.999997	B	0.15719	0.014	B	0.11329	0.006	T	0.13098	-1.0522	10	0.25751	T	0.34	.	14.9702	0.71229	1.0:0.0:0.0:0.0	.	93	Q92575	UBXN4_HUMAN	L	93	ENSP00000272638:I93L	ENSP00000272638:I93L	I	+	1	0	UBXN4	136228261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.310000	0.72830	2.165000	0.68154	0.455000	0.32223	ATA		0.403	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		C	136511791	A	C	136511791	3	2	262	1	0	0	0	0	1	0	0	0	16921	101	4	5	291	5	UBXN4	2	136511791	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	8113250	136511791	106687582	8	15748											
CDK5R2	8941	broad.mit.edu	37	2	219825193	219825193	+	Silent	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr2:219825193C>T	ENST00000302625.4	+	1	817	c.651C>T	c.(649-651)gaC>gaT	p.D217D	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	217					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGTGTGGACCGCTCGCTGC	0.672																																																0													38	39	39					2																	219825193		2203	4300	6503	SO:0001819	synonymous_variant	8941			U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"neuronal CDK5 activator isoform"	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.651C>T	2.37:g.219825193C>T			Q4ZFW6	Silent	SNP	ENST00000302625.4	37	CCDS2427.1																																																																																				0.672	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256728.1	NM_003936		T	219825193	C	T	219825193	2	4	262	1	0	0	0	0	0	0	0	1	3146	506	18	2		2	CDK5R2	2	219825193	Silent	SNP	C	TCGA-B4-5838-01A-11D-1669-08	83313402	219825193	23374180	9	15749											
SP140L	93349	broad.mit.edu	37	2	231193481	231193481	+	Missense_Mutation	SNP	C	C	G	rs375550624		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr2:231193481C>G	ENST00000415673.2	+	2	128	c.42C>G	c.(40-42)aaC>aaG	p.N14K	SP140_ENST00000486687.2_Intron|SP140L_ENST00000444636.1_Missense_Mutation_p.N14K|SP140L_ENST00000396563.4_Missense_Mutation_p.N14K|SP140L_ENST00000243810.6_Missense_Mutation_p.N14K	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	14						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						gggggctgaacggaggtgttt	0.378																																																0													88	96	93					2																	231193481		2198	4300	6498	SO:0001583	missense	93349			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.42C>G	2.37:g.231193481C>G	ENSP00000397911:p.Asn14Lys		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	C	8.156	0.788429	0.16258	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;T;D;D	0.84730	-1.73;-1.36;-1.73;-1.89	2.07	-4.14	0.03892	.	.	.	.	.	T	0.76919	0.4055	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	D	0.74348	0.983	T	0.65393	-0.6179	9	0.12766	T	0.61	.	4.6131	0.12413	0.1492:0.4646:0.0:0.3862	.	14	Q9H930-4	.	K	14	ENSP00000395195:N14K;ENSP00000397911:N14K;ENSP00000243810:N14K;ENSP00000379811:N14K	ENSP00000243810:N14K	N	+	3	2	SP140L	230901725	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.125000	0.10579	-1.920000	0.01069	-0.830000	0.03078	AAC		0.378	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		G	231193481	C	G	231193481	3	3	262	1	0	0	0	0	1	0	0	0	14969	535	19	4	48	4	SP140L	2	231193481	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	11368288	231193481	12005892	10	15750											
SCN11A	11280	broad.mit.edu	37	3	38950499	38950499	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr3:38950499C>G	ENST00000302328.3	-	9	1486	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	SCN11A_ENST00000450244.1_Missense_Mutation_p.E430Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E430Q|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000456224.3_Missense_Mutation_p.E430Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	430					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTTTTCCTCCTTTAACAGC	0.537																																																0													155	143	147					3																	38950499		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1288G>C	3.37:g.38950499C>G	ENSP00000307599:p.Glu430Gln		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793235	0.31685	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96073	-3.9;-3.9;-3.86;-3.79	5.02	0.919	0.19392	.	0.291871	0.35555	N	0.003138	D	0.89536	0.6743	L	0.39020	1.185	0.31439	N	0.67222	B	0.18741	0.03	B	0.16289	0.015	D	0.83888	0.0283	10	0.56958	D	0.05	.	4.0235	0.09677	0.0:0.3066:0.2072:0.4862	.	430	Q9UI33	SCNBA_HUMAN	Q	430	ENSP00000307599:E430Q;ENSP00000400945:E430Q;ENSP00000416757:E430Q;ENSP00000408028:E430Q	ENSP00000307599:E430Q	E	-	1	0	SCN11A	38925503	0.031000	0.19500	0.882000	0.34594	0.554000	0.35429	0.534000	0.23098	0.528000	0.28580	0.460000	0.39030	GAG		0.537	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		G	38950499	C	G	38950499	3	3	262	1	0	0	0	0	1	0	0	0	13919	864	30	4	4159	4	SCN11A	3	38950499	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08		38950499	159071931	11	15751											
BAP1	8314	broad.mit.edu	37	3	52436403	52436403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr3:52436403delG	ENST00000460680.1	-	17	2562	c.2091delC	c.(2089-2091)tccfs	p.S697fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.S679fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q694fs*14(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCCGCCGCACGGAGATGTTCT	0.652			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	eye(1)											19	19	19					3																	52436403		2190	4292	6482	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2091delC	3.37:g.52436403delG	ENSP00000417132:p.Ser697fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																				0.652	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52436403	G	-	52436403	7	5	262	1	0	1	0	1	0	0	0	0	1311	1103	39	0	102	0	BAP1	3	52436403	Frame_Shift_Del	DEL	G	TCGA-B4-5838-01A-11D-1669-08	13485904	52436403	145586027	12	15752											
TKT	7086	broad.mit.edu	37	3	53262142	53262142	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr3:53262142G>T	ENST00000462138.1	-	12	1591	c.1503C>A	c.(1501-1503)gaC>gaA	p.D501E	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Missense_Mutation_p.D454E|TKT_ENST00000423525.2_Missense_Mutation_p.D501E|TKT_ENST00000423516.1_Missense_Mutation_p.D509E			P29401	TKT_HUMAN	transketolase	501					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CGGTCACCTGGTCATCCTTGC	0.622																																					Colon(133;1506 2347 35238 42177)											0													76	72	74					3																	53262142		2203	4300	6503	SO:0001583	missense	7086				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1503C>A	3.37:g.53262142G>T	ENSP00000417773:p.Asp501Glu		A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262404	0.80358	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.4	3.6	0.41247	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	M	0.79926	2.475	0.80722	D	1	D;D;D	0.76494	0.982;0.999;0.999	D;D;D	0.91635	0.98;0.999;0.999	D	0.85115	0.0965	10	0.52906	T	0.07	-13.411	9.3792	0.38301	0.2198:0.0:0.7802:0.0	.	509;418;501	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	E	501;501;509;454;335	ENSP00000417773:D501E;ENSP00000405455:D501E;ENSP00000391481:D509E;ENSP00000296289:D454E	ENSP00000296289:D454E	D	-	3	2	TKT	53237182	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.440000	0.44855	0.650000	0.30769	0.563000	0.77884	GAC		0.622	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			T	53262142	G	T	53262142	3	4	262	1	0	0	0	0	1	0	0	0	15939	1252	44	4	380	4	TKT	3	53262142	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08	825739	53262142	144760288	13	15753											
TMEM39A	55254	broad.mit.edu	37	3	119155755	119155755	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr3:119155755A>C	ENST00000319172.5	-	7	1415	c.995T>G	c.(994-996)aTg>aGg	p.M332R	TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	332						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CGTGGTGAGCATGACAAAAGC	0.468																																																0													294	263	274					3																	119155755		2203	4300	6503	SO:0001583	missense	55254			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.995T>G	3.37:g.119155755A>C	ENSP00000326063:p.Met332Arg		D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.426049	0.62733	.	.	ENSG00000176142	ENST00000319172	T	0.48522	0.81	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	M	0.61703	1.905	0.80722	D	1	D	0.58268	0.982	P	0.62649	0.905	T	0.66929	-0.5799	10	0.72032	D	0.01	-14.4816	14.3415	0.66630	1.0:0.0:0.0:0.0	.	332	Q9NV64	TM39A_HUMAN	R	332	ENSP00000326063:M332R	ENSP00000326063:M332R	M	-	2	0	TMEM39A	120638445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.761000	0.91691	2.179000	0.69175	0.528000	0.53228	ATG		0.468	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		C	119155755	A	C	119155755	3	2	262	1	0	0	0	0	1	0	0	0	16166	217	8	5	483	5	TMEM39A	3	119155755	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	65893613	119155755	78866675	14	15754											
EXOC1	55763	broad.mit.edu	37	4	56768547	56768547	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr4:56768547G>A	ENST00000381295.2	+	18	2723	c.2375G>A	c.(2374-2376)gGc>gAc	p.G792D	EXOC1_ENST00000349598.6_Missense_Mutation_p.G777D|EXOC1_ENST00000346134.7_Missense_Mutation_p.G792D	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	792					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GTGGCACAGGGCATAAGGGAG	0.363																																																0													85	84	84					4																	56768547		2203	4300	6503	SO:0001583	missense	55763			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2375G>A	4.37:g.56768547G>A	ENSP00000370695:p.Gly792Asp		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576075	0.86645	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.83963	0.5368	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.85345	0.1098	9	0.59425	D	0.04	.	19.3685	0.94475	0.0:0.0:1.0:0.0	.	777;792	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	D	792;792;777	.	ENSP00000326514:G792D	G	+	2	0	EXOC1	56463304	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.476000	0.97823	2.585000	0.87301	0.591000	0.81541	GGC		0.363	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		A	56768547	G	A	56768547	3	1	262	1	0	0	0	0	1	0	0	0	5303	1203	42	2	2441	2	EXOC1	4	56768547	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08		56768547	134385729	15	15755											
MAML3	55534	broad.mit.edu	37	4	140811971	140811971	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr4:140811971G>A	ENST00000509479.2	-	2	1475	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.P51S	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ATGTTACTGGGCAAATTGTTG	0.488																																																0													84	82	83					4																	140811971		2051	4201	6252	SO:0001583	missense	55534			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.619C>T	4.37:g.140811971G>A	ENSP00000421180:p.Pro207Ser			Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758456	0.31137	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.23552	1.9	5.05	5.05	0.67936	.	0.075962	0.52532	D	0.000069	T	0.22205	0.0535	L	0.47716	1.5	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.06862	-1.0803	10	0.62326	D	0.03	.	7.8866	0.29653	0.0807:0.0:0.758:0.1613	.	207	Q96JK9	MAML3_HUMAN	S	207;51	ENSP00000421180:P207S	ENSP00000313316:P51S	P	-	1	0	MAML3	141031421	1.000000	0.71417	0.819000	0.32651	0.813000	0.45954	1.987000	0.40687	2.326000	0.78906	0.585000	0.79938	CCC		0.488	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			A	140811971	G	A	140811971	3	1	262	1	0	0	0	0	1	0	0	0	9209	1203	42	2	2805	2	MAML3	4	140811971	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08	84043424	140811971	50342305	16	15756											
RAI14	26064	broad.mit.edu	37	5	34757654	34757654	+	Missense_Mutation	SNP	G	G	C	rs202167881	byFrequency	TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:34757654G>C	ENST00000265109.3	+	3	405	c.118G>C	c.(118-120)Ggc>Cgc	p.G40R	RAI14_ENST00000512629.1_Missense_Mutation_p.G40R|RAI14_ENST00000428746.2_Missense_Mutation_p.G40R|RAI14_ENST00000515799.1_Missense_Mutation_p.G43R|RAI14_ENST00000506376.1_Missense_Mutation_p.G32R|RAI14_ENST00000503673.1_Missense_Mutation_p.G40R|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000397449.1_Missense_Mutation_p.G33R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	40						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCACTGCTCGGCAAGAAGGG	0.537																																																0								G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	77	75	76		118,118,118,94,127,118	4.9	1	5		76	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	RAI14	NM_001145520.1,NM_001145521.1,NM_001145522.1,NM_001145523.1,NM_001145525.1,NM_015577.2	125,125,125,125,125,125	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	40/981,40/981,40/952,32/973,43/984,40/981	34757654	1,13005	2203	4300	6503	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.118G>C	5.37:g.34757654G>C	ENSP00000265109:p.Gly40Arg		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458832	0.63401	2.27E-4	0.0	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71103	-0.54;1.42;1.42;-0.54;-0.54;1.42;-0.54;1.42;1.42;1.42;0.67;1.42;1.25;-0.54;-0.54	5.72	4.86	0.63082	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.74627	0.3741	N	0.25094	0.71	0.46701	D	0.999163	D;D;D;D	0.89917	1.0;1.0;0.994;0.984	D;D;P;D	0.81914	0.991;0.995;0.904;0.942	T	0.77629	-0.2516	9	0.56958	D	0.05	-15.1742	14.9437	0.71014	0.0685:0.0:0.9315:0.0	.	32;40;43;40	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	R	40;40;40;40;40;40;40;40;40;40;43;40;40;32;33	ENSP00000265109:G40R;ENSP00000424879:G40R;ENSP00000422112:G40R;ENSP00000422377:G40R;ENSP00000388725:G40R;ENSP00000421424:G40R;ENSP00000422942:G40R;ENSP00000422515:G40R;ENSP00000422114:G40R;ENSP00000424502:G40R;ENSP00000427123:G43R;ENSP00000426770:G40R;ENSP00000425115:G40R;ENSP00000423854:G32R;ENSP00000380591:G33R	ENSP00000265109:G40R	G	+	1	0	RAI14	34793411	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	3.254000	0.51477	1.441000	0.47550	-0.143000	0.13931	GGC		0.537	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		C	34757654	G	C	34757654	3	2	262	1	0	0	0	0	1	0	0	0	13014	1116	39	4	189	4	RAI14	5	34757654	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08		34757654	146157606	17	15757											
FGF10	2255	broad.mit.edu	37	5	44388667	44388667	+	Missense_Mutation	SNP	G	G	T	rs146669375		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:44388667G>T	ENST00000264664.4	-	1	232	c.118C>A	c.(118-120)Ctt>Att	p.L40I	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	40					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TCCTGACCAAGGGCTTGGCAG	0.582																																																0													55	53	53					5																	44388667		2203	4300	6503	SO:0001583	missense	2255				CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.118C>A	5.37:g.44388667G>T	ENSP00000264664:p.Leu40Ile		C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858042	0.32791	.	.	ENSG00000070193	ENST00000264664;ENST00000513107	T	0.75704	-0.96	4.72	3.77	0.43336	.	4.071010	0.00424	N	0.000060	T	0.63355	0.2504	N	0.19112	0.55	0.27746	N	0.944325	B	0.33694	0.421	B	0.24701	0.055	T	0.53493	-0.8431	10	0.20519	T	0.43	.	15.132	0.72533	0.0:0.0:0.8492:0.1508	.	40	O15520	FGF10_HUMAN	I	40	ENSP00000264664:L40I	ENSP00000264664:L40I	L	-	1	0	FGF10	44424424	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.577000	0.53885	2.440000	0.82611	0.561000	0.74099	CTT		0.582	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		T	44388667	G	T	44388667	3	4	262	1	0	0	0	0	1	0	0	0	5841	1000	35	4	520	4	FGF10	5	44388667	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08	9631013	44388667	136526593	18	15758											
SLC12A2	6558	broad.mit.edu	37	5	127484471	127484471	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:127484471C>T	ENST00000262461.2	+	12	2096	c.1907C>T	c.(1906-1908)cCa>cTa	p.P636L	SLC12A2_ENST00000343225.4_Missense_Mutation_p.P636L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	636					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AACATCTACCCAGCTTTCCAG	0.323																																																0													157	157	157					5																	127484471		2203	4299	6502	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1907C>T	5.37:g.127484471C>T	ENSP00000262461:p.Pro636Leu		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845458	0.71603	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99709	-6.48;-6.48	4.95	4.95	0.65309	Amino acid permease domain (1);	0.055253	0.64402	D	0.000001	D	0.99840	0.9927	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96757	0.9558	10	0.87932	D	0	.	18.7266	0.91716	0.0:1.0:0.0:0.0	.	636;636	P55011-3;P55011	.;S12A2_HUMAN	L	636	ENSP00000262461:P636L;ENSP00000340878:P636L	ENSP00000262461:P636L	P	+	2	0	SLC12A2	127512370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.567000	0.45956	2.728000	0.93425	0.585000	0.79938	CCA		0.323	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		T	127484471	C	T	127484471	3	4	262	1	0	0	0	0	1	0	0	0	14389	594	21	2	1953	2	SLC12A2	5	127484471	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	83095804	127484471	53430789	19	15759											
PCDHGA12	26025	broad.mit.edu	37	5	140811159	140811159	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:140811159G>T	ENST00000252085.3	+	1	975	c.833G>T	c.(832-834)aGg>aTg	p.R278M	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	278	Cadherin 3. {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(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAAGTGAGGTATTCCTTC	0.542																																																0													73	74	74					5																	140811159		2203	4300	6503	SO:0001583	missense	26025			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.833G>T	5.37:g.140811159G>T	ENSP00000252085:p.Arg278Met		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	5.279	0.236822	0.10023	.	.	ENSG00000253159	ENST00000252085	T	0.54479	0.57	4.84	-3.1	0.05315	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.38532	0.1044	L	0.47078	1.49	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.19666	0.009;0.026	T	0.40720	-0.9548	9	0.59425	D	0.04	.	2.3993	0.04397	0.2126:0.3835:0.2497:0.1542	.	278;278	O60330-2;O60330	.;PCDGC_HUMAN	M	278	ENSP00000252085:R278M	ENSP00000252085:R278M	R	+	2	0	PCDHGA12	140791343	0.000000	0.05858	0.945000	0.38365	0.390000	0.30446	-3.711000	0.00386	-0.453000	0.07076	-0.844000	0.03045	AGG		0.542	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		T	140811159	G	T	140811159	3	4	262	1	0	0	0	0	1	0	0	0	11555	1000	35	4	835	4	PCDHGA12	5	140811159	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08	13326688	140811159	40104101	20	15760											
HMMR	3161	broad.mit.edu	37	5	162910059	162910059	+	Silent	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:162910059A>G	ENST00000358715.3	+	14	1599	c.1563A>G	c.(1561-1563)ctA>ctG	p.L521L	HMMR_ENST00000432118.2_Silent_p.L435L|HMMR_ENST00000353866.3_Silent_p.L506L|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Silent_p.L522L|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	521					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AGTCAGCACTAAAGGAAACAG	0.343																																																0													65	73	71					5																	162910059		2202	4296	6498	SO:0001819	synonymous_variant	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1563A>G	5.37:g.162910059A>G			A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	ENST00000358715.3	37	CCDS4362.1																																																																																				0.343	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		G	162910059	A	G	162910059	2	3	262	1	0	0	0	0	0	0	0	1	7244	349	13	3		3	HMMR	5	162910059	Silent	SNP	A	TCGA-B4-5838-01A-11D-1669-08	22098900	162910059	18005201	21	15761											
RARS	5917	broad.mit.edu	37	5	167922351	167922351	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:167922351C>G	ENST00000231572.3	+	6	665	c.611C>G	c.(610-612)gCt>gGt	p.A204G	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	204					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CCTAATATAGCTAAAGAGATG	0.418																																																0													191	187	188					5																	167922351		2203	4300	6503	SO:0001583	missense	5917			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.611C>G	5.37:g.167922351C>G	ENSP00000231572:p.Ala204Gly		B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166775	0.94768	.	.	ENSG00000113643	ENST00000231572	T	0.71103	-0.54	5.2	5.2	0.72013	Aminoacyl-tRNA synthetase, class I, conserved site (1);Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.89241	0.6659	H	0.95574	3.69	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.92496	0.6004	10	0.87932	D	0	-24.937	18.7694	0.91885	0.0:1.0:0.0:0.0	.	204	P54136	SYRC_HUMAN	G	204	ENSP00000231572:A204G	ENSP00000231572:A204G	A	+	2	0	RARS	167854929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.440000	0.80464	2.422000	0.82143	0.655000	0.94253	GCT		0.418	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		G	167922351	C	G	167922351	3	3	262	1	0	0	0	0	1	0	0	0	13064	797	28	4	633	4	RARS	5	167922351	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	5012292	167922351	12992909	22	15762											
NSD1	64324	broad.mit.edu	37	5	176684057	176684057	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr5:176684057C>A	ENST00000439151.2	+	13	4916	c.4871C>A	c.(4870-4872)cCa>cAa	p.P1624Q	NSD1_ENST00000361032.4_Missense_Mutation_p.P1521Q|NSD1_ENST00000347982.4_Missense_Mutation_p.P1355Q|NSD1_ENST00000354179.4_Missense_Mutation_p.P1355Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1624					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGAAGTACCCACCCACTGTT	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													139	117	125					5																	176684057		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4871C>A	5.37:g.176684057C>A	ENSP00000395929:p.Pro1624Gln		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949953	0.92660	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	4.9	4.9	0.64082	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.56097	D	0.000030	D	0.97816	0.9283	M	0.83774	2.66	0.53688	D	0.999973	D;D;D	0.76494	0.999;0.998;0.988	D;D;D	0.76575	0.988;0.963;0.92	D	0.98474	1.0602	10	0.87932	D	0	.	18.9766	0.92740	0.0:1.0:0.0:0.0	.	1355;1521;1624	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	1355;1624;1355;1521	ENSP00000346111:P1355Q;ENSP00000395929:P1624Q;ENSP00000343209:P1355Q;ENSP00000354310:P1521Q	ENSP00000343209:P1355Q	P	+	2	0	NSD1	176616663	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	7.716000	0.84723	2.649000	0.89929	0.650000	0.86243	CCA		0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		A	176684057	C	A	176684057	3	1	262	1	0	0	0	0	1	0	0	0	10671	594	21	4	4917	4	NSD1	5	176684057	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	8761706	176684057	4231203	23	15763											
NUP153	9972	broad.mit.edu	37	6	17706532	17706532	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr6:17706532G>C	ENST00000262077.2	-	1	86	c.87C>G	c.(85-87)taC>taG	p.Y29*	RP11-500C11.3_ENST00000606771.1_RNA|NUP153_ENST00000537253.1_Nonsense_Mutation_p.Y29*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	29					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCCCCTGCTGGTAAGGCTTAA	0.721																																																0													71	60	64					6																	17706532		2202	4299	6501	SO:0001587	stop_gained	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.87C>G	6.37:g.17706532G>C	ENSP00000262077:p.Tyr29*		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Nonsense_Mutation	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	37	6.258774	0.97421	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	.	.	.	4.33	4.33	0.51752	.	0.000000	0.31784	N	0.007065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3116	12.6322	0.56663	0.0:0.0:1.0:0.0	.	.	.	.	X	29;51;29	.	ENSP00000262077:Y29X	Y	-	3	2	NUP153	17814511	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.614000	0.36911	2.697000	0.92050	0.591000	0.81541	TAC		0.721	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			C	17706532	G	C	17706532	4	2	262	1	0	0	0	0	0	1	0	0	10757	1256	44	4	4428	4	NUP153	6	17706532	Nonsense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08		17706532	153408535	24	15764											
DOM3Z	1797	broad.mit.edu	37	6	31938839	31938839	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr6:31938839C>T	ENST00000375349.3	-	3	853	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	STK19_ENST00000375333.2_5'Flank|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000375356.3_Missense_Mutation_p.G148S|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_Missense_Mutation_p.G148S			O77932	DXO_HUMAN	decapping exoribonuclease	148					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										AGCTGCCAGCCCTCCTGCCGC	0.647																																																0													77	86	83					6																	31938839		1508	2708	4216	SO:0001583	missense	1797			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"DOM-3 (C. elegans) homolog Z", "dom-3 homolog Z (C. elegans)"	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.442G>A	6.37:g.31938839C>T	ENSP00000364498:p.Gly148Ser		A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	37	CCDS4732.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172948	0.94807	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	T;T;T	0.20200	2.09;2.09;2.09	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.63208	1.945	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.985	T	0.02484	-1.1152	10	0.18276	T	0.48	-20.3603	17.0168	0.86421	0.0:1.0:0.0:0.0	.	148;148	F8WC68;O77932	.;DOM3Z_HUMAN	S	148	ENSP00000337759:G148S;ENSP00000364498:G148S;ENSP00000364505:G148S	ENSP00000337759:G148S	G	-	1	0	DOM3Z	32046818	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	5.374000	0.66167	2.541000	0.85698	0.561000	0.74099	GGC		0.647	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3			T	31938839	C	T	31938839	3	4	262	1	0	0	0	0	1	0	0	0	4707	623	22	2	768	2	DOM3Z	6	31938839	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	14232307	31938839	139176228	25	15765											
MCM9	254394	broad.mit.edu	37	6	119252784	119252784	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr6:119252784delA	ENST00000316316.6	-	2	391	c.105delT	c.(103-105)gatfs	p.D35fs	MCM9_ENST00000316068.3_Frame_Shift_Del_p.D35fs	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	35					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GGTAATGAGCATCTTCATCCC	0.388																																																0													135	122	127					6																	119252784		2203	4300	6503	SO:0001589	frameshift_variant	254394			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"minichromosome maintenance deficient domain containing 1", "chromosome 6 open reading frame 61"	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.105delT	6.37:g.119252784delA	ENSP00000314505:p.Asp35fs		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Frame_Shift_Del	DEL	ENST00000316316.6	37	CCDS56447.1																																																																																				0.388	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		-	119252784	A	-	119252784	7	5	262	1	0	1	0	1	0	0	0	0	9396	214	8	0	1094	0	MCM9	6	119252784	Frame_Shift_Del	DEL	A	TCGA-B4-5838-01A-11D-1669-08	87313945	119252784	51862283	26	15766											
AQP1	358	broad.mit.edu	37	7	30951547	30951552	+	In_Frame_Del	DEL	AGCTCT	AGCTCT	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr7:30951547_30951552delAGCTCT	ENST00000311813.4	+	1	78_83	c.23_28delAGCTCT	c.(22-30)aagctcttc>atc	p.8_10KLF>I	AQP1_ENST00000509504.1_Intron|AQP1_ENST00000434909.2_Intron	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	8					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	TTCAAGAAGAAGCTCTTCTGGAGGGC	0.617																																																0																																										SO:0001651	inframe_deletion	358			M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"Ion channels / Aquaporins", "Blood group antigens"	633	protein-coding gene	gene with protein product		107776	"Colton blood group", "aquaporin 1 (channel-forming integral protein, 28kDa)", "aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)", "aquaporin 1"	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.23_28delAGCTCT	7.37:g.30951547_30951552delAGCTCT	ENSP00000311165:p.Lys8_Phe10delinsIle		B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	In_Frame_Del	DEL	ENST00000311813.4	37	CCDS5431.1																																																																																				0.617	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		-	30951552	AGCTCT	-	30951547	7	5	262	1	0	1	0	1	0	0	0	0	821	72	3	0	25	0	AQP1	7	30951547	In_Frame_Del	DEL	AGCTCT	TCGA-B4-5838-01A-11D-1669-08		30951547	128187116	27	15767											
GCK	2645	broad.mit.edu	37	7	44191996	44191996	+	Silent	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr7:44191996C>G	ENST00000403799.3	-	3	706	c.237G>C	c.(235-237)ctG>ctC	p.L79L	GCK_ENST00000476008.1_5'Flank|GCK_ENST00000345378.2_Silent_p.L80L|GCK_ENST00000437084.1_Silent_p.L79L|GCK_ENST00000395796.3_Silent_p.L78L	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	79	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TAGTGCCACCCAGGTCCAGGG	0.607																																																0													218	182	194					7																	44191996		2203	4300	6503	SO:0001819	synonymous_variant	2645			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.237G>C	7.37:g.44191996C>G			A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	CCDS5479.1																																																																																				0.607	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			G	44191996	C	G	44191996	2	3	262	1	0	0	0	0	0	0	0	1	6295	581	21	4		4	GCK	7	44191996	Silent	SNP	C	TCGA-B4-5838-01A-11D-1669-08	13240449	44191996	114946667	28	15768											
SRRT	51593	broad.mit.edu	37	7	100485480	100485480	+	Splice_Site	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr7:100485480A>G	ENST00000347433.4	+	17	2484	c.2326A>G	c.(2326-2328)Ata>Gta	p.I776V	SRRT_ENST00000457580.2_Splice_Site_p.S776G|SRRT_ENST00000432932.1_Splice_Site_p.S775G|SRRT_ENST00000388793.4_Splice_Site_p.I775V			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	776	Pro-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCCGCCCAGAGTAAGATACG	0.532																																																0													54	61	59					7																	100485480		2203	4300	6503	SO:0001630	splice_region_variant	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2326+1A>G	7.37:g.100485480A>G			A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Splice_Site	SNP	ENST00000347433.4	37	CCDS34709.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.01|10.01	1.234241|1.234241	0.22626|0.22626	.|.	.|.	ENSG00000087087|ENSG00000087087	ENST00000388793;ENST00000342198;ENST00000347433;ENST00000448764;ENST00000445337|ENST00000457580;ENST00000432932	.|.	.|.	.|.	4.74|4.74	3.59|3.59	0.41128|0.41128	Arsenite-resistance protein 2 (1);|.	0.377435|.	0.27168|.	N|.	0.020603|.	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.08118|0.08118	0|0	0.24514|0.24514	N|N	0.994194|0.994194	B;B|B;B	0.10296|0.02656	0.002;0.003|0.0;0.0	B;B|B;B	0.11329|0.01281	0.003;0.006|0.0;0.0	T|T	0.31724|0.31724	-0.9933|-0.9933	9|8	0.15952|0.02654	T|T	0.53|1	.|.	6.8439|6.8439	0.23977|0.23977	0.8942:0.0:0.1058:0.0|0.8942:0.0:0.1058:0.0	.|.	775;776|775;776	Q9BXP5-3;Q9BXP5|Q9BXP5-4;Q9BXP5-2	.;SRRT_HUMAN|.;.	V|G	775;141;776;406;53|776;775	.|.	ENSP00000344670:I141V|ENSP00000391852:S775G	I|S	+|+	1|1	0|0	SRRT|SRRT	100323416|100323416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.764000|0.764000	0.43329|0.43329	6.237000|6.237000	0.72345|0.72345	0.847000|0.847000	0.35167|0.35167	0.254000|0.254000	0.18369|0.18369	ATA|AGT		0.532	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	Missense_Mutation	G	100485480	A	G	100485480	5	3	262	1	0	0	0	0	0	0	1	0	15177	318	11	3	2388	3	SRRT	7	100485480	Splice_Site	SNP	A	TCGA-B4-5838-01A-11D-1669-08	56293484	100485480	58653183	29	15769											
CUX1	1523	broad.mit.edu	37	7	101754986	101754986	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr7:101754986A>C	ENST00000292535.7	+	7	577	c.539A>C	c.(538-540)cAg>cCg	p.Q180P	CUX1_ENST00000292538.4_Missense_Mutation_p.Q191P|CUX1_ENST00000393824.3_Missense_Mutation_p.Q154P|CUX1_ENST00000437600.4_Missense_Mutation_p.Q191P|CUX1_ENST00000360264.3_Missense_Mutation_p.Q191P|CUX1_ENST00000550008.2_Missense_Mutation_p.Q180P|CUX1_ENST00000546411.2_Missense_Mutation_p.Q180P|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000549414.2_Missense_Mutation_p.Q180P|CUX1_ENST00000547394.2_Missense_Mutation_p.Q175P|CUX1_ENST00000425244.2_Missense_Mutation_p.Q145P|CUX1_ENST00000556210.1_Missense_Mutation_p.Q180P	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	180					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGAAAGCTGCAGGAGACACAG	0.507																																																0													111	95	101					7																	101754986		2203	4300	6503	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.539A>C	7.37:g.101754986A>C	ENSP00000292535:p.Gln180Pro		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.910822	0.92178	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.78595	0.9;0.9;0.9;1.39;0.9;0.9;-1.19;0.9;0.9;0.9	5.66	5.66	0.87406	.	0.118903	0.56097	D	0.000022	D	0.85583	0.5730	L	0.52905	1.665	0.58432	D	0.999999	D;D;D;D;D;D;D	0.71674	0.996;0.996;0.996;0.979;0.981;0.997;0.998	P;D;D;P;P;P;D	0.78314	0.731;0.979;0.979;0.705;0.714;0.791;0.991	D	0.86640	0.1891	10	0.66056	D	0.02	-27.2677	16.2026	0.82095	1.0:0.0:0.0:0.0	.	154;180;145;175;191;191;191	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	P	191;175;191;145;191;180;180;180;180;180	ENSP00000292538:Q191P;ENSP00000449371:Q175P;ENSP00000353401:Q191P;ENSP00000409745:Q145P;ENSP00000414091:Q191P;ENSP00000292535:Q180P;ENSP00000446630:Q180P;ENSP00000447373:Q180P;ENSP00000450125:Q180P;ENSP00000451558:Q180P	ENSP00000292535:Q180P	Q	+	2	0	CUX1	101541706	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	8.272000	0.89885	2.285000	0.76669	0.533000	0.62120	CAG		0.507	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		C	101754986	A	C	101754986	3	2	262	1	0	0	0	0	1	0	0	0	4066	188	7	5	632	5	CUX1	7	101754986	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	1269506	101754986	57383677	30	15770											
RBM28	55131	broad.mit.edu	37	7	127964664	127964664	+	Silent	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr7:127964664C>T	ENST00000223073.2	-	12	1401	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	RBM28_ENST00000415472.2_Silent_p.T288T	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	429					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTTCACCTTCGTCGTCTGAA	0.562																																																0													164	163	164					7																	127964664		2203	4300	6503	SO:0001819	synonymous_variant	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1287G>A	7.37:g.127964664C>T			A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP	ENST00000223073.2	37	CCDS5801.1																																																																																				0.562	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		T	127964664	C	T	127964664	2	4	262	1	0	0	0	0	0	0	0	1	13134	871	31	1		1	RBM28	7	127964664	Silent	SNP	C	TCGA-B4-5838-01A-11D-1669-08	26209678	127964664	31173999	31	15771											
CSMD1	64478	broad.mit.edu	37	8	3224564	3224564	+	Silent	SNP	G	G	A	rs375015688		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr8:3224564G>A	ENST00000520002.1	-	21	3663	c.3108C>T	c.(3106-3108)atC>atT	p.I1036I	CSMD1_ENST00000537824.1_Silent_p.I1035I|CSMD1_ENST00000602723.1_Silent_p.I1036I|CSMD1_ENST00000542608.1_Silent_p.I1035I|CSMD1_ENST00000539096.1_Silent_p.I1035I|CSMD1_ENST00000602557.1_Silent_p.I1036I|CSMD1_ENST00000400186.3_Silent_p.I1036I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1036	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGAAAATGTGATATTGAAGC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18959	0.0		0.0	False		,,,				2504	0.0															0													56	61	60					8																	3224564		1979	4156	6135	SO:0001819	synonymous_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3108C>T	8.37:g.3224564G>A			Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	1.131	-0.652282	0.03480	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.09	2.24	0.28232	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29792	-1.0000	4	.	.	.	.	4.155	0.10256	0.3472:0.0:0.463:0.1898	.	.	.	.	Y	516	.	.	H	-	1	0	CSMD1	3211971	0.846000	0.29590	0.930000	0.37139	0.103000	0.19146	-0.124000	0.10595	0.530000	0.28619	0.455000	0.32223	CAC		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3224564	G	A	3224564	2	1	262	1	0	0	0	0	0	0	0	1	3946	1280	45	2		2	CSMD1	8	3224564	Silent	SNP	G	TCGA-B4-5838-01A-11D-1669-08		3224564	143139458	32	15772											
ZDHHC2	51201	broad.mit.edu	37	8	17067900	17067900	+	Silent	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr8:17067900A>G	ENST00000262096.8	+	10	1556	c.861A>G	c.(859-861)ctA>ctG	p.L287L		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	287					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ATTCTAGTCTAGGTGATGGCT	0.413																																																0													71	66	67					8																	17067900		1830	4096	5926	SO:0001819	synonymous_variant	51201			AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"Zinc fingers, DHHC-type"	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.861A>G	8.37:g.17067900A>G			D3DSP5	Silent	SNP	ENST00000262096.8	37	CCDS47810.1																																																																																				0.413	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		G	17067900	A	G	17067900	2	3	262	1	0	0	0	0	0	0	0	1	17615	407	15	3		3	ZDHHC2	8	17067900	Silent	SNP	A	TCGA-B4-5838-01A-11D-1669-08	13843336	17067900	129296122	33	15773											
XPO7	23039	broad.mit.edu	37	8	21844736	21844736	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr8:21844736T>G	ENST00000252512.9	+	14	1762	c.1662T>G	c.(1660-1662)ttT>ttG	p.F554L	XPO7_ENST00000433566.4_Missense_Mutation_p.F555L|XPO7_ENST00000434536.1_Missense_Mutation_p.F563L	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	554					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGAGCTTTTTTGAACAGTTTC	0.493																																																0													127	127	127					8																	21844736		1913	4118	6031	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1662T>G	8.37:g.21844736T>G	ENSP00000252512:p.Phe554Leu		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	T	6.142	0.394451	0.11638	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.57273	0.41;0.41;0.41	5.78	3.46	0.39613	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36054	0.0953	L	0.39467	1.215	0.58432	D	0.999995	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.12156	0.007;0.007;0.007	T	0.16394	-1.0404	10	0.02654	T	1	-14.6701	9.3589	0.38184	0.0:0.1447:0.0:0.8553	.	555;563;554	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	L	563;554;555	ENSP00000404853:F563L;ENSP00000252512:F554L;ENSP00000410249:F555L	ENSP00000252512:F554L	F	+	3	2	XPO7	21900682	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.532000	0.23067	1.030000	0.39839	0.533000	0.62120	TTT		0.493	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		G	21844736	T	G	21844736	3	3	262	1	0	0	0	0	1	0	0	0	17454	1809	63	5	1768	5	XPO7	8	21844736	Missense_Mutation	SNP	T	TCGA-B4-5838-01A-11D-1669-08	4776836	21844736	124519286	34	15774											
GPT	2875	broad.mit.edu	37	8	145730220	145730220	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr8:145730220A>G	ENST00000528431.1	+	4	476	c.319A>G	c.(319-321)Agg>Ggg	p.R107G	GPT_ENST00000394955.2_Missense_Mutation_p.R107G			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	107					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	TGCCAAGAAAAGGGCGGAGCG	0.632																																																0													149	168	162					8																	145730220		2203	4300	6503	SO:0001583	missense	2875				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.319A>G	8.37:g.145730220A>G	ENSP00000433586:p.Arg107Gly		B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471941	0.63737	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.90732	-2.72;-2.72	5.23	2.55	0.30701	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.144234	0.64402	D	0.000011	D	0.96408	0.8828	H	0.97365	3.99	0.43994	D	0.996695	D;D	0.60575	0.981;0.988	D;D	0.67900	0.922;0.954	D	0.96283	0.9208	10	0.87932	D	0	-32.8114	11.2767	0.49172	0.7001:0.2999:0.0:0.0	.	107;107	B4DPT5;P24298	.;ALAT1_HUMAN	G	107	ENSP00000433586:R107G;ENSP00000378408:R107G	ENSP00000378408:R107G	R	+	1	2	GPT	145701028	0.001000	0.12720	0.960000	0.40013	0.489000	0.33432	0.380000	0.20602	0.773000	0.33404	0.459000	0.35465	AGG		0.632	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			G	145730220	A	G	145730220	3	3	262	1	0	0	0	0	1	0	0	0	6739	63	3	3	329	3	GPT	8	145730220	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	123885484	145730220	633802	35	15775											
FAM75A6	389730	broad.mit.edu	37	9	43625455	43625455	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr9:43625455T>C	ENST00000332857.6	-	4	3260	c.3232A>G	c.(3232-3234)Aaa>Gaa	p.K1078E	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1078					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGCACCAGTTTGCTCCTTCTG	0.532																																																0													14	12	12					9																	43625455		611	1516	2127	SO:0001583	missense	389730				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3232A>G	9.37:g.43625455T>C	ENSP00000329825:p.Lys1078Glu			Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	6.551	0.469899	0.12461	.	.	ENSG00000185775	ENST00000332857	T	0.03663	3.85	2.44	-4.12	0.03916	.	1.054440	0.07426	N	0.894836	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48210	-0.9055	10	0.20046	T	0.44	.	0.3554	0.00356	0.1927:0.2657:0.1966:0.3449	.	1078	Q5VVP1	F75A6_HUMAN	E	1078	ENSP00000329825:K1078E	ENSP00000329825:K1078E	K	-	1	0	FAM75A6	43565451	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.376000	0.07465	-0.915000	0.03823	-0.994000	0.02522	AAA		0.532	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		C	43625455	T	C	43625455	3	2	262	1	0	0	0	0	1	0	0	0	5624	1821	63	3	803	3	FAM75A6	9	43625455	Missense_Mutation	SNP	T	TCGA-B4-5838-01A-11D-1669-08		43625455	97587976	36	15776											
TSTD2	158427	broad.mit.edu	37	9	100367110	100367110	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr9:100367110A>T	ENST00000341170.4	-	9	1533	c.1151T>A	c.(1150-1152)aTc>aAc	p.I384N	TSTD2_ENST00000354801.2_Missense_Mutation_p.I124N	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	384	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.									large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GTACTTGTGGATGCCACCCTT	0.473																																																0													114	102	106					9																	100367110		2203	4300	6503	SO:0001583	missense	158427			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1151T>A	9.37:g.100367110A>T	ENSP00000342499:p.Ile384Asn		A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480413	0.84747	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	T;T;T	0.28666	1.6;1.6;1.6	4.3	4.3	0.51218	Rhodanese-like (5);	0.052696	0.64402	D	0.000001	T	0.67878	0.2940	H	0.96996	3.92	0.53005	D	0.999968	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.79780	-0.1659	10	0.87932	D	0	-11.622	13.5952	0.61984	1.0:0.0:0.0:0.0	.	158;384	B3KVC7;Q5T7W7	.;TSTD2_HUMAN	N	158;384;124;124	ENSP00000342499:I384N;ENSP00000364308:I124N;ENSP00000346856:I124N	ENSP00000342499:I384N	I	-	2	0	TSTD2	99406931	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.552000	0.90682	1.947000	0.56498	0.460000	0.39030	ATC		0.473	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		T	100367110	A	T	100367110	3	4	262	1	0	0	0	0	1	0	0	0	16680	333	12	5	407	5	TSTD2	9	100367110	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	56741655	100367110	40846321	37	15777											
TSTD2	158427	broad.mit.edu	37	9	100380108	100380108	+	Silent	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr9:100380108G>A	ENST00000341170.4	-	4	916	c.534C>T	c.(532-534)gaC>gaT	p.D178D	TSTD2_ENST00000484708.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	178										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GATCCTCCAGGTCATGGTAGC	0.498																																																0													145	117	126					9																	100380108		2203	4300	6503	SO:0001819	synonymous_variant	158427			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.534C>T	9.37:g.100380108G>A			A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Silent	SNP	ENST00000341170.4	37	CCDS6727.2																																																																																				0.498	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		A	100380108	G	A	100380108	2	1	262	1	0	0	0	0	0	0	0	1	16680	1252	44	2		2	TSTD2	9	100380108	Silent	SNP	G	TCGA-B4-5838-01A-11D-1669-08	12998	100380108	40833323	38	15778											
FAM129B	64855	broad.mit.edu	37	9	130287400	130287400	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr9:130287400C>T	ENST00000373312.3	-	4	571	c.358G>A	c.(358-360)Gca>Aca	p.A120T	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.A107T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	120	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TTGTAGCCTGCACTGTTGATG	0.587																																																0													125	110	115					9																	130287400		2203	4300	6503	SO:0001583	missense	64855			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.358G>A	9.37:g.130287400C>T	ENSP00000362409:p.Ala120Thr		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153193	0.94645	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.16597	2.33;2.33	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	L	0.43152	1.355	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.00657	-1.1623	10	0.35671	T	0.21	-15.0557	17.2762	0.87116	0.0:1.0:0.0:0.0	.	107;120	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	T	107;120	ENSP00000362411:A107T;ENSP00000362409:A120T	ENSP00000362409:A120T	A	-	1	0	FAM129B	129327221	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.381000	0.66208	2.677000	0.91161	0.561000	0.74099	GCA		0.587	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		T	130287400	C	T	130287400	3	4	262	1	0	0	0	0	1	0	0	0	5439	710	25	2	1926	2	FAM129B	9	130287400	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	29907292	130287400	10926031	39	15779											
POMT1	10585	broad.mit.edu	37	9	134385344	134385344	+	Silent	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr9:134385344C>G	ENST00000372228.3	+	8	839	c.660C>G	c.(658-660)gtC>gtG	p.V220V	POMT1_ENST00000404875.2_Silent_p.V103V|POMT1_ENST00000402686.3_Silent_p.V220V|POMT1_ENST00000419118.2_Silent_p.V68V|POMT1_ENST00000423007.1_Silent_p.V220V|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Silent_p.V190V|POMT1_ENST00000341012.7_Silent_p.V166V	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	220					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGCAGCTGTCCATGCCTGGC	0.522																																																0													199	163	175					9																	134385344		2203	4300	6503	SO:0001819	synonymous_variant	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.660C>G	9.37:g.134385344C>G			B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	CCDS6943.1																																																																																				0.522	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		G	134385344	C	G	134385344	2	3	262	1	0	0	0	0	0	0	0	1	12247	842	30	4		4	POMT1	9	134385344	Silent	SNP	C	TCGA-B4-5838-01A-11D-1669-08	4097944	134385344	6828087	40	15780											
C10orf79	80217	broad.mit.edu	37	10	105990520	105990520	+	De_novo_Start_InFrame	SNP	T	T	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr10:105990520T>C	ENST00000278064.2	-	0	262				WDR96_ENST00000369719.1_De_novo_Start_InFrame|WDR96_ENST00000369720.1_De_novo_Start_InFrame|WDR96_ENST00000428666.1_Missense_Mutation_p.I49M|WDR96_ENST00000357060.3_Missense_Mutation_p.I49M																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TATTAATAAATATTACATAAT	0.388																																																0													76	77	76					10																	105990520		2203	4300	6503			80217																															10.37:g.105990520T>C				Missense_Mutation	SNP	ENST00000278064.2	37		.	.	.	.	.	.	.	.	.	.	T	12.80	2.046008	0.36085	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.13657	2.57;2.57	4.83	3.56	0.40772	.	0.000000	0.38005	N	0.001850	T	0.19805	0.0476	L	0.44542	1.39	0.29034	N	0.885523	P;D;D	0.67145	0.896;0.996;0.994	P;D;P	0.66497	0.575;0.944;0.906	T	0.10497	-1.0627	10	0.45353	T	0.12	.	1.9176	0.03300	0.2125:0.0919:0.1386:0.5571	.	49;49;49	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	M	49	ENSP00000349568:I49M;ENSP00000400289:I49M	ENSP00000349568:I49M	I	-	3	3	WDR96	105980510	1.000000	0.71417	0.990000	0.47175	0.390000	0.30446	1.002000	0.29796	1.813000	0.52934	0.402000	0.26972	ATA		0.388	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			C	105990520	T	C	105990520	1	2	262	1	0	1	0	0	0	0	0	0	1620	1396	49	3		3	C10orf79	10	105990520	De_novo_Start_InFrame	SNP	T	TCGA-B4-5838-01A-11D-1669-08		105990520	29544227	41	15781											
FAM196A	642938	broad.mit.edu	37	10	128974642	128974642	+	Silent	SNP	G	G	T	rs372783138		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr10:128974642G>T	ENST00000522781.1	-	4	573	c.18C>A	c.(16-18)acC>acA	p.T6T	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.T6T	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	6										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCATTTGCCGGTGTCCTTAC	0.537																																																0													72	75	74					10																	128974642		2192	4295	6487	SO:0001819	synonymous_variant	642938				CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.18C>A	10.37:g.128974642G>T			B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	CCDS31312.1																																																																																				0.537	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		T	128974642	G	T	128974642	2	4	262	1	0	0	0	0	0	0	0	1	5530	1103	39	4		4	FAM196A	10	128974642	Silent	SNP	G	TCGA-B4-5838-01A-11D-1669-08	22984122	128974642	6560105	42	15782											
GAS2	2620	broad.mit.edu	37	11	22770733	22770733	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:22770733G>A	ENST00000454584.2	+	6	846	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	GAS2_ENST00000278187.3_Missense_Mutation_p.A181T|GAS2_ENST00000433790.1_Missense_Mutation_p.A181T	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	181					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AACACTTTCTGCCCCTTCTCC	0.393																																																0													106	107	107					11																	22770733		2203	4300	6503	SO:0001583	missense	2620			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.541G>A	11.37:g.22770733G>A	ENSP00000401145:p.Ala181Thr		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672207	0.29693	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.86	4.01	0.46588	Calponin homology domain (2);	0.364255	0.31531	N	0.007487	T	0.19287	0.0463	N	0.02011	-0.69	0.40820	D	0.983492	B	0.02656	0.0	B	0.01281	0.0	T	0.05037	-1.0910	10	0.19590	T	0.45	-5.29	8.7294	0.34489	0.2814:0.0:0.7186:0.0	.	181	O43903	GAS2_HUMAN	T	181	ENSP00000432584:A181T;ENSP00000401145:A181T;ENSP00000278187:A181T;ENSP00000435946:A181T;ENSP00000396708:A181T	ENSP00000278187:A181T	A	+	1	0	GAS2	22727309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.206000	0.42779	0.943000	0.37553	0.650000	0.86243	GCC		0.393	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		A	22770733	G	A	22770733	3	1	262	1	0	0	0	0	1	0	0	0	6247	1319	46	2	559	2	GAS2	11	22770733	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08		22770733	112235783	43	15783											
TRAF6	7189	broad.mit.edu	37	11	36511852	36511852	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:36511852C>T	ENST00000526995.1	-	7	1351	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.E369K	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	369	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GGTTTCTCCTCTTCTTGACAT	0.453																																																0													112	111	111					11																	36511852		2202	4298	6500	SO:0001583	missense	7189				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1105G>A	11.37:g.36511852C>T	ENSP00000433623:p.Glu369Lys		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389086	0.42410	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.81330	-1.48;-1.48	5.35	5.35	0.76521	TRAF-type (1);TRAF-like (1);MATH (3);	0.044232	0.85682	D	0.000000	T	0.75125	0.3807	L	0.47716	1.5	0.80722	D	1	B	0.22276	0.067	B	0.23275	0.045	T	0.70099	-0.4965	10	0.08381	T	0.77	-21.406	19.4113	0.94673	0.0:1.0:0.0:0.0	.	369	Q9Y4K3	TRAF6_HUMAN	K	369	ENSP00000433623:E369K;ENSP00000337853:E369K	ENSP00000337853:E369K	E	-	1	0	TRAF6	36468428	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.674000	0.68117	2.657000	0.90304	0.555000	0.69702	GAG		0.453	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		T	36511852	C	T	36511852	3	4	262	1	0	0	0	0	1	0	0	0	16450	922	32	2	467	2	TRAF6	11	36511852	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	13741119	36511852	98494664	44	15784											
RAPSN	5913	broad.mit.edu	37	11	47463274	47463274	+	Silent	SNP	G	G	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:47463274G>T	ENST00000298854.2	-	5	1014	c.801C>A	c.(799-801)ccC>ccA	p.P267P	RAPSN_ENST00000529341.1_Intron|RAPSN_ENST00000352508.3_Intron|RNU6-1302P_ENST00000516518.1_RNA|RAPSN_ENST00000524487.1_Silent_p.P214P|RAPSN_ENST00000528356.1_5'UTR	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	267					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						AGTCGTACCTGGGGAAGGCTG	0.667																																																0													33	33	33					11																	47463274		2201	4298	6499	SO:0001819	synonymous_variant	5913				CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"RING-type (C3HC4) zinc fingers"	9863	protein-coding gene	gene with protein product	"rapsyn"	601592	"receptor-associated protein of the synapse, 43kD"			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.801C>A	11.37:g.47463274G>T			Q8TDF3|Q9BTD9	Silent	SNP	ENST00000298854.2	37	CCDS7936.1																																																																																				0.667	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			T	47463274	G	T	47463274	2	4	262	1	0	0	0	0	0	0	0	1	13057	1335	47	4		4	RAPSN	11	47463274	Silent	SNP	G	TCGA-B4-5838-01A-11D-1669-08	10951422	47463274	87543242	45	15785											
AHNAK	79026	broad.mit.edu	37	11	62291579	62291579	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:62291579C>G	ENST00000378024.4	-	5	10584	c.10310G>C	c.(10309-10311)gGt>gCt	p.G3437A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3437					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAATTGGGACCTGCAATATC	0.418																																																0													69	71	71					11																	62291579		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10310G>C	11.37:g.62291579C>G	ENSP00000367263:p.Gly3437Ala		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	0.018	-1.482301	0.01027	.	.	ENSG00000124942	ENST00000378024	T	0.01516	4.81	4.33	-8.66	0.00866	.	.	.	.	.	T	0.00875	0.0029	N	0.05383	-0.06	0.09310	N	1	B	0.25904	0.137	B	0.24541	0.054	T	0.50676	-0.8800	9	0.08599	T	0.76	.	11.0631	0.47959	0.5936:0.2463:0.1602:0.0	.	3437	Q09666	AHNK_HUMAN	A	3437	ENSP00000367263:G3437A	ENSP00000367263:G3437A	G	-	2	0	AHNAK	62048155	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-3.866000	0.00347	-1.173000	0.02758	0.282000	0.19409	GGT		0.418	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		G	62291579	C	G	62291579	3	3	262	1	0	0	0	0	1	0	0	0	414	507	18	4	7482	4	AHNAK	11	62291579	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	14828305	62291579	72714937	46	15786											
ARHGEF17	9828	broad.mit.edu	37	11	73071410	73071410	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:73071410G>C	ENST00000263674.3	+	11	4602	c.4252G>C	c.(4252-4254)Gac>Cac	p.D1418H		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1418					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CATGCACCGGGACCTGTCGGA	0.657																																																0													93	102	99					11																	73071410		2200	4293	6493	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4252G>C	11.37:g.73071410G>C	ENSP00000263674:p.Asp1418His		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331449	0.95733	.	.	ENSG00000110237	ENST00000263674	T	0.33216	1.42	5.81	5.81	0.92471	.	0.060338	0.64402	D	0.000001	T	0.46927	0.1418	L	0.36672	1.1	0.58432	D	0.999998	D	0.71674	0.998	D	0.65573	0.936	T	0.30880	-0.9963	10	0.54805	T	0.06	-28.0956	19.0707	0.93134	0.0:0.0:1.0:0.0	.	1418	Q96PE2	ARHGH_HUMAN	H	1418	ENSP00000263674:D1418H	ENSP00000263674:D1418H	D	+	1	0	ARHGEF17	72749058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.623000	0.98386	2.746000	0.94184	0.655000	0.94253	GAC		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		C	73071410	G	C	73071410	3	2	262	1	0	0	0	0	1	0	0	0	900	1174	41	4	4294	4	ARHGEF17	11	73071410	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08	10779831	73071410	61935106	47	15787											
GRM5	2915	broad.mit.edu	37	11	88242235	88242235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:88242235delC	ENST00000305447.4	-	9	3313	c.3164delG	c.(3163-3165)ggcfs	p.G1055fs	GRM5_ENST00000305432.5_Frame_Shift_Del_p.G1023fs|GRM5_ENST00000418177.2_Frame_Shift_Del_p.G1055fs|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000455756.2_Frame_Shift_Del_p.G1023fs|GRM5-AS1_ENST00000531994.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1055					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CATGAGGGAGCCCTGCGAGGA	0.692																																																0													9	11	10					11																	88242235		2166	4248	6414	SO:0001589	frameshift_variant	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3164delG	11.37:g.88242235delC	ENSP00000306138:p.Gly1055fs		Q6J164	Frame_Shift_Del	DEL	ENST00000305447.4	37	CCDS44694.1																																																																																				0.692	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		-	88242235	C	-	88242235	7	5	262	1	0	1	0	1	0	0	0	0	6802	739	26	0	478	0	GRM5	11	88242235	Frame_Shift_Del	DEL	C	TCGA-B4-5838-01A-11D-1669-08	15170825	88242235	46764281	48	15788											
TMPRSS13	84000	broad.mit.edu	37	11	117789550	117789550	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:117789550C>T	ENST00000430170.2	-	2	112	c.25G>A	c.(25-27)Gca>Aca	p.A9T	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A9T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A9T|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.A9T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A9T	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	9	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCTGGAGATGCATTCTGAAAG	0.602																																																0													37	42	40					11																	117789550		1991	4168	6159	SO:0001583	missense	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.25G>A	11.37:g.117789550C>T	ENSP00000387702:p.Ala9Thr		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434259	0.83776	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.88664	-2.38;-2.41;-2.41;-2.41;-2.32	4.15	3.22	0.36961	.	1.398810	0.05337	N	0.529490	D	0.82770	0.5109	N	0.08118	0	0.24134	N	0.995754	P;B	0.40180	0.705;0.419	B;B	0.44044	0.439;0.202	T	0.75082	-0.3443	10	0.62326	D	0.03	.	9.6131	0.39674	0.2068:0.7932:0.0:0.0	.	9;9	Q9BYE2-4;E9PRA0	.;.	T	9	ENSP00000435813:A9T;ENSP00000434279:A9T;ENSP00000387702:A9T;ENSP00000394114:A9T;ENSP00000436502:A9T	ENSP00000337113:A9T	A	-	1	0	TMPRSS13	117294760	0.440000	0.25618	0.927000	0.36925	0.424000	0.31475	1.473000	0.35387	1.312000	0.45043	0.643000	0.83706	GCA		0.602	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		T	117789550	C	T	117789550	3	4	262	1	0	0	0	0	1	0	0	0	16250	710	25	2	1726	2	TMPRSS13	11	117789550	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	29547315	117789550	17216966	49	15789											
ZNF202	7753	broad.mit.edu	37	11	123597460	123597460	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:123597460C>T	ENST00000529691.1	-	7	1411	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	ZNF202_ENST00000336139.4_Missense_Mutation_p.D398N|ZNF202_ENST00000530393.1_Missense_Mutation_p.D398N			O95125	ZN202_HUMAN	zinc finger protein 202	398					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACAGAACAGTCATGATGCCTC	0.433																																																0													109	109	109					11																	123597460		2202	4299	6501	SO:0001583	missense	7753			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1192G>A	11.37:g.123597460C>T	ENSP00000433881:p.Asp398Asn		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	7.121	0.578024	0.13686	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.07327	3.2;3.2;3.2	4.32	-0.0439	0.13857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.844596	0.10302	N	0.691002	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42275	-0.9461	10	0.41790	T	0.15	-1.6556	5.7518	0.18150	0.0:0.5179:0.3013:0.1809	.	398	O95125	ZN202_HUMAN	N	398	ENSP00000337724:D398N;ENSP00000432504:D398N;ENSP00000433881:D398N	ENSP00000337724:D398N	D	-	1	0	ZNF202	123102670	0.000000	0.05858	0.325000	0.25375	0.946000	0.59487	-2.293000	0.01145	-0.083000	0.12618	0.655000	0.94253	GAC		0.433	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		T	123597460	C	T	123597460	3	4	262	1	0	0	0	0	1	0	0	0	17768	826	29	2	758	2	ZNF202	11	123597460	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	5807910	123597460	11409056	50	15790											
FLI1	2313	broad.mit.edu	37	11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr11:128680431G>A	ENST00000527786.2	+	9	1396	c.907G>A	c.(907-909)Gag>Aag	p.E303K	FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000344954.6_Missense_Mutation_p.E270K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	303					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TATCACCTGGGAGGGGACCAA	0.617			T	EWSR1	Ewing sarcoma																																		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													19	22	21					11																	128680431		2186	4293	6479	SO:0001583	missense	2313			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.907G>A	11.37:g.128680431G>A	ENSP00000433488:p.Glu303Lys		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977028	0.92982	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.216108	0.47852	D	0.000201	T	0.75236	0.3822	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;D	0.91635	0.997;0.999;0.911	T	0.77517	-0.2558	10	0.87932	D	0	.	19.6722	0.95915	0.0:0.0:1.0:0.0	.	303;110;237	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	K	110;270;303;270;237	ENSP00000437124:E110K;ENSP00000339627:E270K;ENSP00000399985:E303K;ENSP00000432950:E270K;ENSP00000281428:E237K	ENSP00000281428:E237K	E	+	1	0	FLI1	128185641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.585000	0.79938	GAG		0.617	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		A	128680431	G	A	128680431	3	1	262	1	0	0	0	0	1	0	0	0	5926	1175	41	2	941	2	FLI1	11	128680431	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08	5082971	128680431	6326085	51	15791											
CD163L1	283316	broad.mit.edu	37	12	7510009	7510009	+	Silent	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr12:7510009G>A	ENST00000313599.3	-	19	4410	c.4353C>T	c.(4351-4353)gcC>gcT	p.A1451A	CD163L1_ENST00000416109.2_Silent_p.A1461A|CD163L1_ENST00000396630.1_Silent_p.A1419A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1451						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTCATTTTGTGGCTTCAGAGG	0.418																																																0													97	91	93					12																	7510009		2203	4300	6503	SO:0001819	synonymous_variant	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4353C>T	12.37:g.7510009G>A			B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	3.826	-0.036685	0.07497	.	.	ENSG00000177675	ENST00000539726	.	.	.	1.07	0.14	0.14804	.	.	.	.	.	T	0.22085	0.0532	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24512	-1.0158	4	.	.	.	.	3.2812	0.06916	0.299:0.0:0.701:0.0	.	.	.	.	Y	107	.	.	H	-	1	0	CD163L1	7401276	0.008000	0.16893	0.084000	0.20598	0.179000	0.23085	-0.469000	0.06648	0.031000	0.15407	0.549000	0.68633	CAC		0.418	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		A	7510009	G	A	7510009	2	1	262	1	0	0	0	0	0	0	0	1	2970	1335	47	2		2	CD163L1	12	7510009	Silent	SNP	G	TCGA-B4-5838-01A-11D-1669-08		7510009	126341886	52	15792											
ITGA7	3679	broad.mit.edu	37	12	56101360	56101360	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr12:56101360A>G	ENST00000555728.1	-	1	135	c.107T>C	c.(106-108)cTg>cCg	p.L36P	ITGA7_ENST00000347027.6_Missense_Mutation_p.L36P|ITGA7_ENST00000257879.6_Missense_Mutation_p.L36P|ITGA7_ENST00000257880.7_Missense_Mutation_p.L36P|ITGA7_ENST00000394230.2_Missense_Mutation_p.L36P|ITGA7_ENST00000553804.1_Missense_Mutation_p.L36P|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Missense_Mutation_p.L36P			Q13683	ITA7_HUMAN	integrin, alpha 7	36					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CATCACGTCCAGATTGAAGGC	0.662																																																0													37	42	40					12																	56101360		2203	4300	6503	SO:0001583	missense	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.107T>C	12.37:g.56101360A>G	ENSP00000452387:p.Leu36Pro		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		.	.	.	.	.	.	.	.	.	.	A	27.2	4.812904	0.90707	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	4.36	4.36	0.52297	.	0.000000	0.48767	D	0.000180	D	0.95376	0.8499	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96010	0.9001	10	0.87932	D	0	.	11.8376	0.52336	1.0:0.0:0.0:0.0	.	36;99	Q13683-3;Q4LE35	.;.	P	36	ENSP00000452120:L36P;ENSP00000257879:L36P;ENSP00000343009:L36P;ENSP00000257880:L36P;ENSP00000377777:L36P;ENSP00000377776:L36P;ENSP00000452387:L36P	ENSP00000257879:L36P	L	-	2	0	ITGA7	54387627	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.359000	0.90093	1.967000	0.57214	0.379000	0.24179	CTG		0.662	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		G	56101360	A	G	56101360	3	3	262	1	0	0	0	0	1	0	0	0	7883	188	7	3	3584	3	ITGA7	12	56101360	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	48591351	56101360	77750535	53	15793											
TAC3	6866	broad.mit.edu	37	12	57409500	57409500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr12:57409500C>A	ENST00000458521.2	-	2	241	c.82G>T	c.(82-84)Gag>Tag	p.E28*	TAC3_ENST00000415231.1_Nonsense_Mutation_p.E28*|TAC3_ENST00000441881.1_Nonsense_Mutation_p.E28*	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	28					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ACCACCTCCTCCTGTGGCTCC	0.597																																																0													80	77	78					12																	57409500		2203	4300	6503	SO:0001587	stop_gained	6866			AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"Endogenous ligands"	11521	protein-coding gene	gene with protein product	"preprotachykinin-B"	162330	"neuromedin K", "neurokinin beta"	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.82G>T	12.37:g.57409500C>A	ENSP00000404056:p.Glu28*		Q6IAG2|Q71BC6|Q71BC9	Nonsense_Mutation	SNP	ENST00000458521.2	37	CCDS8928.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377638	0.61735	.	.	ENSG00000166863	ENST00000458521;ENST00000441881;ENST00000415231	.	.	.	5.66	3.75	0.43078	.	0.509864	0.19288	N	0.117976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-22.0006	7.4033	0.26977	0.0:0.7441:0.1674:0.0885	.	.	.	.	X	28	.	ENSP00000300108:E28X	E	-	1	0	TAC3	55695767	0.996000	0.38824	0.995000	0.50966	0.080000	0.17528	1.292000	0.33342	1.406000	0.46857	-0.253000	0.11424	GAG		0.597	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667		A	57409500	C	A	57409500	4	1	262	1	0	0	0	0	0	1	0	0	15504	864	30	4	303	4	TAC3	12	57409500	Nonsense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	1308140	57409500	76442395	54	15794											
DTX1	1840	broad.mit.edu	37	12	113496211	113496211	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr12:113496211T>C	ENST00000257600.3	+	1	717	c.214T>C	c.(214-216)Tac>Cac	p.Y72H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	72	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTGTGCCCTACATCATCGA	0.642																																																0													125	116	119					12																	113496211		2203	4300	6503	SO:0001583	missense	1840			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.214T>C	12.37:g.113496211T>C	ENSP00000257600:p.Tyr72His		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.495005	0.85069	.	.	ENSG00000135144	ENST00000257600	T	0.70282	-0.47	4.05	4.05	0.47172	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	D	0.000003	D	0.84174	0.5414	M	0.85542	2.76	0.46849	D	0.999229	D	0.76494	0.999	D	0.87578	0.998	D	0.86687	0.1920	10	0.87932	D	0	-7.2888	12.1675	0.54138	0.0:0.0:0.0:1.0	.	72	Q86Y01	DTX1_HUMAN	H	72	ENSP00000257600:Y72H	ENSP00000257600:Y72H	Y	+	1	0	DTX1	111980594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.243000	0.78219	1.710000	0.51325	0.454000	0.30748	TAC		0.642	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			C	113496211	T	C	113496211	3	2	262	1	0	0	0	0	1	0	0	0	4795	1522	53	3	216	3	DTX1	12	113496211	Missense_Mutation	SNP	T	TCGA-B4-5838-01A-11D-1669-08	56086711	113496211	20355684	55	15795											
RPL21	6144	broad.mit.edu	37	13	27828378	27828378	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr13:27828378A>T	ENST00000311549.6	+	3	378	c.89A>T	c.(88-90)tAt>tTt	p.Y30F	SNORD102_ENST00000384769.1_RNA|RPL21_ENST00000272274.4_Missense_Mutation_p.Y30F|RPL21_ENST00000319826.4_Missense_Mutation_p.Y30F|RPL21_ENST00000326092.4_Missense_Mutation_p.Y30F|SNORA27_ENST00000384323.1_RNA	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	30					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		TTGGCCACATATATGCGAATC	0.289																																																0													109	112	111					13																	27828378		2203	4299	6502	SO:0001583	missense	6144			AB007176	CCDS9320.1	13q12.2	2008-07-18			ENSG00000122026	ENSG00000122026		"L ribosomal proteins"	10313	protein-coding gene	gene with protein product	"60S ribosomal protein L21"	603636				3459254, 7772601	Standard	NM_000982		Approved	L21, FLJ27458, MGC71252, MGC104274, MGC104275, DKFZp686C06101	uc001ura.3	P46778	OTTHUMG00000016630	ENST00000311549.6:c.89A>T	13.37:g.27828378A>T	ENSP00000346027:p.Tyr30Phe		Q16699	Missense_Mutation	SNP	ENST00000311549.6	37	CCDS9320.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575742	0.65878	.	.	ENSG00000122026	ENST00000311549;ENST00000272274;ENST00000319826;ENST00000326092	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.97	4.97	0.65823	Translation protein SH3-like (1);	0.000000	0.85682	U	0.000000	T	0.66177	0.2763	M	0.79614	2.46	0.80722	D	1	B	0.22146	0.065	B	0.28709	0.093	T	0.67503	-0.5654	10	0.56958	D	0.05	.	14.938	0.70973	1.0:0.0:0.0:0.0	.	30	P46778	RL21_HUMAN	F	30	ENSP00000346027:Y30F;ENSP00000351021:Y30F;ENSP00000370574:Y30F;ENSP00000370569:Y30F	ENSP00000351021:Y30F	Y	+	2	0	RPL21	26726378	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.036000	0.93758	1.982000	0.57802	0.528000	0.53228	TAT		0.289	RPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044270.1	NM_000982		T	27828378	A	T	27828378	3	4	262	1	0	0	0	0	1	0	0	0	13573	449	16	5	95	5	RPL21	13	27828378	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08		27828378	87341500	56	15796											
FLT1	2321	broad.mit.edu	37	13	29001360	29001360	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr13:29001360C>T	ENST00000282397.4	-	10	1623	c.1372G>A	c.(1372-1374)Ggt>Agt	p.G458S	FLT1_ENST00000541932.1_Missense_Mutation_p.G458S|FLT1_ENST00000539099.1_Missense_Mutation_p.G458S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	458	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|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 phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGGGATACCATATGCGGTA	0.468																																																0													175	153	160					13																	29001360		2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1372G>A	13.37:g.29001360C>T	ENSP00000282397:p.Gly458Ser		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914818	0.72983	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.47177	0.85;0.85;1.15	5.9	5.9	0.94986	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72236	0.3435	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67448	-0.5668	10	0.25751	T	0.34	.	20.2787	0.98501	0.0:1.0:0.0:0.0	.	458;458;458;458	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	S	458	ENSP00000282397:G458S;ENSP00000437631:G458S;ENSP00000442630:G458S	ENSP00000282397:G458S	G	-	1	0	FLT1	27899360	1.000000	0.71417	0.182000	0.23118	0.055000	0.15305	6.831000	0.75324	2.798000	0.96311	0.650000	0.86243	GGT		0.468	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			T	29001360	C	T	29001360	3	4	262	1	0	0	0	0	1	0	0	0	5943	594	21	2	2991	2	FLT1	13	29001360	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	1172982	29001360	86168518	57	15797											
OR11H4	390442	broad.mit.edu	37	14	20711760	20711760	+	Silent	SNP	A	A	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr14:20711760A>T	ENST00000315409.2	+	1	863	c.810A>T	c.(808-810)gtA>gtT	p.V270V		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TAATGTATGTAAGTCCTACAT	0.423																																																0													213	205	208					14																	20711760		2203	4300	6503	SO:0001819	synonymous_variant	390442				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"GPCR / Class A : Olfactory receptors"	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.810A>T	14.37:g.20711760A>T			B2RNQ4|Q6IF07	Silent	SNP	ENST00000315409.2	37	CCDS32034.1																																																																																				0.423	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			T	20711760	A	T	20711760	2	4	262	1	0	0	0	0	0	0	0	1	10930	349	13	5		5	OR11H4	14	20711760	Silent	SNP	A	TCGA-B4-5838-01A-11D-1669-08		20711760	86637780	58	15798											
ZNF219	51222	broad.mit.edu	37	14	21559281	21559281	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr14:21559281C>G	ENST00000360947.3	-	5	1994	c.1583G>C	c.(1582-1584)tGt>tCt	p.C528S	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Missense_Mutation_p.C528S|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Missense_Mutation_p.C528S	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	528					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCAGTGCGGACACTTGTAGGG	0.672																																																0													7	9	8					14																	21559281		1987	4036	6023	SO:0001583	missense	51222			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.1583G>C	14.37:g.21559281C>G	ENSP00000354206:p.Cys528Ser		D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	ENST00000360947.3	37	CCDS9568.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803187	0.90623	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093	D;D;D	0.85171	-1.95;-1.95;-1.95	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	H	0.94886	3.595	0.51012	D	0.999908	D	0.89917	1.0	D	0.91635	0.999	D	0.95726	0.8770	10	0.87932	D	0	-12.0455	17.2567	0.87059	0.0:1.0:0.0:0.0	.	528	Q9P2Y4	ZN219_HUMAN	S	528	ENSP00000354206:C528S;ENSP00000388558:C528S;ENSP00000392401:C528S	ENSP00000354206:C528S	C	-	2	0	ZNF219	20629121	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.754000	0.68743	2.666000	0.90696	0.561000	0.74099	TGT		0.672	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			G	21559281	C	G	21559281	3	3	262	1	0	0	0	0	1	0	0	0	17778	478	17	4	589	4	ZNF219	14	21559281	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	847521	21559281	85790259	59	15799											
PNMA1	9240	broad.mit.edu	37	14	74179538	74179538	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr14:74179538C>T	ENST00000316836.3	-	1	1590	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	269					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		agcagaggctccagacgaatg	0.517																																																0													56	57	57					14																	74179538		2203	4300	6503	SO:0001583	missense	9240			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"Paraneoplastic Ma antigens"	9158	protein-coding gene	gene with protein product		604010	"paraneoplastic antigen MA1"			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.805G>A	14.37:g.74179538C>T	ENSP00000318914:p.Glu269Lys		A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110569	0.77210	.	.	ENSG00000176903	ENST00000316836	T	0.27104	1.69	4.48	4.48	0.54585	.	0.000000	0.47852	D	0.000212	T	0.47746	0.1462	M	0.79258	2.445	0.38916	D	0.957649	D	0.69078	0.997	P	0.61874	0.895	T	0.53823	-0.8384	10	0.87932	D	0	-7.283	12.9722	0.58520	0.0:1.0:0.0:0.0	.	269	Q8ND90	PNMA1_HUMAN	K	269	ENSP00000318914:E269K	ENSP00000318914:E269K	E	-	1	0	PNMA1	73249291	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.984000	0.49353	2.779000	0.95612	0.655000	0.94253	GAG		0.517	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		T	74179538	C	T	74179538	3	4	262	1	0	0	0	0	1	0	0	0	12155	864	30	2	260	2	PNMA1	14	74179538	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	52620257	74179538	33170002	60	15800											
TJP1	7082	broad.mit.edu	37	15	30026551	30026551	+	Silent	SNP	T	T	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr15:30026551T>C	ENST00000346128.6	-	12	1917	c.1443A>G	c.(1441-1443)gaA>gaG	p.E481E	TJP1_ENST00000545208.2_Silent_p.E481E|TJP1_ENST00000356107.6_Silent_p.E481E|TJP1_ENST00000400011.2_Silent_p.E485E	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	481	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGACGGCTTCTTCTCTTATGA	0.368																																					Melanoma(77;681 1843 6309 6570)											0													152	136	141					15																	30026551		1855	4090	5945	SO:0001819	synonymous_variant	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1443A>G	15.37:g.30026551T>C			B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	CCDS42007.1																																																																																				0.368	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		C	30026551	T	C	30026551	2	2	262	1	0	0	0	0	0	0	0	1	15934	1606	56	3		3	TJP1	15	30026551	Silent	SNP	T	TCGA-B4-5838-01A-11D-1669-08		30026551	72504841	61	15801											
CHTF18	63922	broad.mit.edu	37	16	840647	840647	+	Missense_Mutation	SNP	C	C	T	rs367945137		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr16:840647C>T	ENST00000262315.9	+	7	938	c.875C>T	c.(874-876)aCg>aTg	p.T292M	RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.T487M|CHTF18_ENST00000455171.2_Missense_Mutation_p.T320M|RPUSD1_ENST00000561734.1_5'Flank|RPUSD1_ENST00000565809.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	292					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CGCCACTACACGGAGCTGCTC	0.597																																																0								C	MET/THR	0,4154		0,0,2077	32	39	37		875	1.4	0.9	16		37	2,8402		0,2,4200	no	missense	CHTF18	NM_022092.2	81	0,2,6277	TT,TC,CC		0.0238,0.0,0.0159	possibly-damaging	292/976	840647	2,12556	2077	4202	6279	SO:0001583	missense	63922			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.875C>T	16.37:g.840647C>T	ENSP00000262315:p.Thr292Met		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559848	0.45590	0.0	2.38E-4	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.17528	2.27;2.27;2.27	5.2	1.44	0.22558	.	0.209027	0.48767	N	0.000176	T	0.12603	0.0306	L	0.46885	1.475	0.46954	D	0.999269	P;P	0.38767	0.639;0.646	B;B	0.35770	0.21;0.104	T	0.11817	-1.0572	10	0.26408	T	0.33	-8.9345	8.3898	0.32522	0.0:0.6766:0.1379:0.1855	.	320;292	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	M	487;320;292	ENSP00000313029:T487M;ENSP00000406252:T320M;ENSP00000262315:T292M	ENSP00000262315:T292M	T	+	2	0	CHTF18	780648	0.077000	0.21312	0.932000	0.37286	0.937000	0.57800	0.855000	0.27805	0.468000	0.27243	0.478000	0.44815	ACG		0.597	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		T	840647	C	T	840647	3	4	262	1	0	0	0	0	1	0	0	0	3416	536	19	1	901	1	CHTF18	16	840647	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08		840647	89514106	62	15802											
SEC14L5	9717	broad.mit.edu	37	16	5040783	5040783	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr16:5040783G>A	ENST00000251170.7	+	5	541	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	121	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCCTGAGAATGAAGACTGGAC	0.582																																																0													67	67	67					16																	5040783		1970	4169	6139	SO:0001583	missense	9717			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.361G>A	16.37:g.5040783G>A	ENSP00000251170:p.Glu121Lys			Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562982	0.86335	.	.	ENSG00000103184	ENST00000251170	T	0.17854	2.25	4.37	4.37	0.52481	PRELI/MSF1 (2);	0.092842	0.44688	D	0.000429	T	0.31888	0.0811	M	0.75447	2.3	0.80722	D	1	P	0.37276	0.589	P	0.46208	0.507	T	0.07809	-1.0753	10	0.33940	T	0.23	-17.5289	17.1014	0.86651	0.0:0.0:1.0:0.0	.	121	O43304	S14L5_HUMAN	K	121	ENSP00000251170:E121K	ENSP00000251170:E121K	E	+	1	0	SEC14L5	4980784	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.238000	0.78173	2.257000	0.74773	0.555000	0.69702	GAA		0.582	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			A	5040783	G	A	5040783	3	1	262	1	0	0	0	0	1	0	0	0	13991	1291	45	2	375	2	SEC14L5	16	5040783	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08	4200136	5040783	85313970	63	15803											
CORO1A	11151	broad.mit.edu	37	16	30198794	30198794	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr16:30198794G>A	ENST00000219150.5	+	6	1033	c.728G>A	c.(727-729)aGt>aAt	p.S243N	RP11-455F5.5_ENST00000567153.1_RNA|RP11-455F5.5_ENST00000568506.1_RNA|CORO1A_ENST00000570045.1_Missense_Mutation_p.S243N|RP11-455F5.5_ENST00000566144.1_RNA|CORO1A_ENST00000565497.1_Missense_Mutation_p.S243N	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	243					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						AGCCGCATGAGTGAGCGGCAG	0.667																																																0													26	27	26					16																	30198794		2196	4300	6496	SO:0001583	missense	11151			X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.728G>A	16.37:g.30198794G>A	ENSP00000219150:p.Ser243Asn		B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.221562	0.79464	.	.	ENSG00000102879	ENST00000219150	T	0.63744	-0.06	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.79805	2.47	0.80722	D	1	P;P	0.42375	0.778;0.77	P;P	0.48815	0.558;0.591	T	0.72966	-0.4131	10	0.34782	T	0.22	-13.6238	18.0322	0.89288	0.0:0.0:1.0:0.0	.	299;243	Q59G88;P31146	.;COR1A_HUMAN	N	243	ENSP00000219150:S243N	ENSP00000219150:S243N	S	+	2	0	CORO1A	30106295	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	9.751000	0.98889	2.576000	0.86940	0.561000	0.74099	AGT		0.667	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		A	30198794	G	A	30198794	3	1	262	1	0	0	0	0	1	0	0	0	3755	1029	36	2	746	2	CORO1A	16	30198794	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08	25158011	30198794	60155959	64	15804											
HYDIN	54768	broad.mit.edu	37	16	70934923	70934923	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr16:70934923T>A	ENST00000393567.2	-	53	9182	c.9032A>T	c.(9031-9033)aAg>aTg	p.K3011M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3011					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCGAATAGCCTTCTTGATGTT	0.517																																																0													82	82	82					16																	70934923		1900	4111	6011	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9032A>T	16.37:g.70934923T>A	ENSP00000377197:p.Lys3011Met		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178982	0.57692	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01092	5.35	4.39	4.39	0.52855	.	0.000000	0.34362	U	0.004028	T	0.02970	0.0088	M	0.72118	2.19	0.80722	D	1	P	0.44090	0.826	P	0.45712	0.491	T	0.53676	-0.8405	10	0.51188	T	0.08	.	13.5437	0.61690	0.0:0.0:0.0:1.0	.	3010	F8WD23	.	M	3011;3010	ENSP00000377197:K3011M	ENSP00000313052:K3010M	K	-	2	0	HYDIN	69492424	1.000000	0.71417	0.965000	0.40720	0.246000	0.25737	3.847000	0.55895	1.747000	0.51819	0.164000	0.16699	AAG		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	70934923	T	A	70934923	3	1	262	1	0	0	0	0	1	0	0	0	7469	1609	56	5	6469	5	HYDIN	16	70934923	Missense_Mutation	SNP	T	TCGA-B4-5838-01A-11D-1669-08	40736129	70934923	19419830	65	15805											
HYDIN	54768	broad.mit.edu	37	16	70934968	70934968	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr16:70934968C>T	ENST00000393567.2	-	53	9137	c.8987G>A	c.(8986-8988)gGc>gAc	p.G2996D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2996					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAGGTGCAGGCCGTACTCAGC	0.557																																																0													128	126	127					16																	70934968		1995	4165	6160	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8987G>A	16.37:g.70934968C>T	ENSP00000377197:p.Gly2996Asp		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	1.563	-0.536073	0.04082	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00840	5.63	4.39	3.4	0.38934	.	0.260137	0.19092	U	0.122929	T	0.01092	0.0036	N	0.25647	0.755	0.80722	D	1	B	0.24483	0.104	B	0.33042	0.157	T	0.60250	-0.7300	10	0.12430	T	0.62	.	13.9676	0.64218	0.0:0.8463:0.1537:0.0	.	2995	F8WD23	.	D	2996;2995	ENSP00000377197:G2996D	ENSP00000313052:G2995D	G	-	2	0	HYDIN	69492469	0.015000	0.18098	0.037000	0.18230	0.092000	0.18411	0.111000	0.15458	0.923000	0.37045	0.195000	0.17529	GGC		0.557	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70934968	C	T	70934968	3	4	262	1	0	0	0	0	1	0	0	0	7469	739	26	2	6514	2	HYDIN	16	70934968	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	45	70934968	19419785	66	15806											
QRICH2	84074	broad.mit.edu	37	17	74278089	74278089	+	Silent	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr17:74278089G>A	ENST00000262765.5	-	8	3800	c.3621C>T	c.(3619-3621)atC>atT	p.I1207I		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1207										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTCAGGGTCGATCTGGCCAG	0.612																																																0													61	56	58					17																	74278089		2203	4300	6503	SO:0001819	synonymous_variant	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3621C>T	17.37:g.74278089G>A			A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	CCDS32741.1																																																																																				0.612	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		A	74278089	G	A	74278089	2	1	262	1	0	0	0	0	0	0	0	1	12886	1048	37	1		1	QRICH2	17	74278089	Silent	SNP	G	TCGA-B4-5838-01A-11D-1669-08		74278089	6917121	67	15807											
UBE2O	63893	broad.mit.edu	37	17	74392603	74392603	+	Silent	SNP	G	G	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr17:74392603G>A	ENST00000319380.7	-	14	2479	c.2415C>T	c.(2413-2415)gaC>gaT	p.D805D	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	805					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGGGTGGCCCGTCCTTGCCAG	0.632																																																0													106	116	112					17																	74392603		2203	4300	6503	SO:0001819	synonymous_variant	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2415C>T	17.37:g.74392603G>A			A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	CCDS32742.1																																																																																				0.632	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		A	74392603	G	A	74392603	2	1	262	1	0	0	0	0	0	0	0	1	16873	1136	40	1		1	UBE2O	17	74392603	Silent	SNP	G	TCGA-B4-5838-01A-11D-1669-08	114514	74392603	6802607	68	15808											
MC5R	4161	broad.mit.edu	37	18	13826628	13826628	+	Silent	SNP	C	C	T	rs142287236	byFrequency	TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr18:13826628C>T	ENST00000324750.3	+	1	1086	c.864C>T	c.(862-864)tcC>tcT	p.S288S	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	288					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTGTAATTCCGTGATGGACC	0.463													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		22740	0.0		0.0	False		,,,				2504	0.0															0								C		9,4397	14.3+/-33.2	0,9,2194	176	160	166		864	-8	0.1	18	dbSNP_134	166	0,8600		0,0,4300	no	coding-synonymous	MC5R	NM_005913.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		288/326	13826628	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4161			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.864C>T	18.37:g.13826628C>T			B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	CCDS11868.1																																																																																				0.463	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		T	13826628	C	T	13826628	2	4	262	1	0	0	0	0	0	0	0	1	9369	639	23	1		1	MC5R	18	13826628	Silent	SNP	C	TCGA-B4-5838-01A-11D-1669-08		13826628	64250620	69	15809											
LAMA3	3909	broad.mit.edu	37	18	21470025	21470025	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr18:21470025A>G	ENST00000313654.9	+	42	5595	c.5354A>G	c.(5353-5355)cAa>cGa	p.Q1785R	LAMA3_ENST00000399516.3_Missense_Mutation_p.Q1785R|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q176R|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q176R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1785	Domain III A.|Laminin EGF-like 14. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGTAGCTGCCAACCATGCAGT	0.498																																																0													114	112	113					18																	21470025		2203	4300	6503	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5354A>G	18.37:g.21470025A>G	ENSP00000324532:p.Gln1785Arg		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235845	0.39498	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.62788	-0.0;-0.0;-0.0	5.48	3.1	0.35709	EGF-like, laminin (2);Growth factor, receptor (1);	.	.	.	.	T	0.50803	0.1637	L	0.46614	1.455	0.37975	D	0.933416	B;B;B;B	0.17852	0.012;0.016;0.01;0.024	B;B;B;B	0.19391	0.007;0.01;0.025;0.017	T	0.40664	-0.9551	9	0.18710	T	0.47	.	9.115	0.36753	0.8486:0.0:0.1514:0.0	.	176;176;1785;1785	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	R	1785;1785;176	ENSP00000324532:Q1785R;ENSP00000382432:Q1785R;ENSP00000269217:Q176R	ENSP00000269217:Q176R	Q	+	2	0	LAMA3	19724023	0.995000	0.38212	0.887000	0.34795	0.856000	0.48823	1.659000	0.37387	0.386000	0.24997	0.533000	0.62120	CAA		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		G	21470025	A	G	21470025	3	3	262	1	0	0	0	0	1	0	0	0	8609	130	5	3	5695	3	LAMA3	18	21470025	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	7643397	21470025	56607223	70	15810											
ZNRF4	148066	broad.mit.edu	37	19	5455579	5455579	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr19:5455579A>G	ENST00000222033.4	+	1	154	c.77A>G	c.(76-78)cAc>cGc	p.H26R		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	26						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCTCTGAGCCACGCGGTCATT	0.662																																																0													42	49	46					19																	5455579		2108	4217	6325	SO:0001583	missense	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.77A>G	19.37:g.5455579A>G	ENSP00000222033:p.His26Arg		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.991736	0.35131	.	.	ENSG00000105428	ENST00000222033	T	0.04275	3.66	2.91	-5.81	0.02340	.	.	.	.	.	T	0.02494	0.0076	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.45948	-0.9226	9	0.62326	D	0.03	.	1.0133	0.01502	0.3204:0.2842:0.2582:0.1372	.	26	Q8WWF5	ZNRF4_HUMAN	R	26	ENSP00000222033:H26R	ENSP00000222033:H26R	H	+	2	0	ZNRF4	5406579	0.000000	0.05858	0.021000	0.16686	0.035000	0.12851	-2.218000	0.01219	-1.076000	0.03125	0.260000	0.18958	CAC		0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		G	5455579	A	G	5455579	3	3	262	1	0	0	0	0	1	0	0	0	18219	159	6	3	79	3	ZNRF4	19	5455579	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08		5455579	53673404	71	15811											
ZNF563	147837	broad.mit.edu	37	19	12429410	12429410	+	Nonstop_Mutation	SNP	A	A	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr19:12429410A>C	ENST00000293725.5	-	4	1634	c.1429T>G	c.(1429-1431)Tga>Gga	p.*477G		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTTTACATTCATATTGTTTCT	0.363																																					GBM(39;623 795 5132 29510 31476)											0													69	69	69					19																	12429410		2203	4300	6503	SO:0001578	stop_lost	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1429T>G	19.37:g.12429410A>C	ENSP00000293725:p.*477Argext*2		B2R9E7|Q8NAT7	Nonstop_Mutation	SNP	ENST00000293725.5	37	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	A	1.434	-0.569522	0.03910	.	.	ENSG00000188868	ENST00000293725	.	.	.	1.0	1.0	0.19881	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2517	0.10698	0.78:0.0:0.22:0.0	.	.	.	.	G	477	.	.	X	-	1	0	ZNF563	12290410	0.000000	0.05858	0.107000	0.21349	0.333000	0.28666	0.046000	0.14035	0.699000	0.31761	0.260000	0.18958	TGA		0.363	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		C	12429410	A	C	12429410	4	2	262	1	0	0	0	0	0	0	0	0	17999	230	8	5	5	5	ZNF563	19	12429410	Nonstop_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	6973831	12429410	46699573	72	15812											
CLEC17A	388512	broad.mit.edu	37	19	14698466	14698467	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr19:14698466_14698467insTT	ENST00000417570.1	+	3	200_201	c.162_163insTT	c.(163-165)tcafs	p.S55fs	CLEC17A_ENST00000397439.2_Frame_Shift_Ins_p.S55fs|RN7SL842P_ENST00000477654.2_RNA|CLEC17A_ENST00000547437.1_Frame_Shift_Ins_p.S55fs	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	55						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										ACTATGAGAACTCAACACCTCC	0.569																																																0																																										SO:0001589	frameshift_variant	388512			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		Exception_encountered	19.37:g.14698466_14698467insTT	ENSP00000393719:p.Ser55fs		A8MX68|B2RTX0|B7ZMM4	Frame_Shift_Ins	INS	ENST00000417570.1	37	CCDS56087.1																																																																																				0.569	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		TT	14698467	-	TT	14698466	7	5	262	1	0	1	1	0	0	0	0	0	3503	564	20	0	172	0	CLEC17A	19	14698466	Frame_Shift_Ins	INS	-	TCGA-B4-5838-01A-11D-1669-08	2269056	14698466	44430517	73	15813											
PRR12	57479	broad.mit.edu	37	19	50118194	50118194	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr19:50118194delA	ENST00000418929.2	+	8	4964	c.4952delA	c.(4951-4953)gaafs	p.E1651fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	830							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AAGTTCCTGGAAAATGTCAAT	0.512																																																0													74	73	73					19																	50118194		1891	4106	5997	SO:0001589	frameshift_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4952delA	19.37:g.50118194delA	ENSP00000394510:p.Glu1651fs		E9PB06|Q8N4J6	Frame_Shift_Del	DEL	ENST00000418929.2	37	CCDS46143.1																																																																																				0.512	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		-	50118194	A	-	50118194	7	5	262	1	0	1	0	1	0	0	0	0	12589	246	9	0	4982	0	PRR12	19	50118194	Frame_Shift_Del	DEL	A	TCGA-B4-5838-01A-11D-1669-08	35419728	50118194	9010789	74	15814											
HSPA12B	116835	broad.mit.edu	37	20	3728984	3728984	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr20:3728984C>A	ENST00000254963.2	+	8	941	c.796C>A	c.(796-798)Cca>Aca	p.P266T	HSPA12B_ENST00000542646.1_Missense_Mutation_p.P100T	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	266							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TGGCCGGGCCCCAGGTGGTGG	0.701																																																0													26	27	27					20																	3728984		2202	4298	6500	SO:0001583	missense	116835			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.796C>A	20.37:g.3728984C>A	ENSP00000254963:p.Pro266Thr		D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	C	8.791	0.930575	0.18131	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.40225	1.61;1.04;1.04	4.97	2.88	0.33553	.	0.329747	0.31335	N	0.007836	T	0.20981	0.0505	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15780	-1.0425	10	0.14656	T	0.56	.	7.7275	0.28767	0.1602:0.467:0.3728:0.0	.	265;266	B7ZLP2;Q96MM6	.;HS12B_HUMAN	T	266;100;180	ENSP00000254963:P266T;ENSP00000441506:P100T;ENSP00000382608:P180T	ENSP00000254963:P266T	P	+	1	0	HSPA12B	3676984	0.005000	0.15991	0.225000	0.23894	0.939000	0.58152	1.250000	0.32850	1.273000	0.44346	0.655000	0.94253	CCA		0.701	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		A	3728984	C	A	3728984	3	1	262	1	0	0	0	0	1	0	0	0	7407	623	22	4	822	4	HSPA12B	20	3728984	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08		3728984	59296536	75	15815											
SYNJ1	8867	broad.mit.edu	37	21	34012084	34012084	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr21:34012084delA	ENST00000322229.7	-	29	3593	c.3594delT	c.(3592-3594)attfs	p.I1198fs	SYNJ1_ENST00000382491.3_Frame_Shift_Del_p.I1151fs|SYNJ1_ENST00000382499.2_Frame_Shift_Del_p.I1237fs|SYNJ1_ENST00000357345.3_Frame_Shift_Del_p.I1182fs|SYNJ1_ENST00000433931.2_Frame_Shift_Del_p.I1237fs			O43426	SYNJ1_HUMAN	synaptojanin 1	1198	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACGAGGAGGAATCGTCTACA	0.443																																																0													82	70	74					21																	34012084		2203	4300	6503	SO:0001589	frameshift_variant	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3594delT	21.37:g.34012084delA	ENSP00000322234:p.Ile1198fs		O43425|O94984|Q4KMR1	Frame_Shift_Del	DEL	ENST00000322229.7	37	CCDS54484.1																																																																																				0.443	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				-	34012084	A	-	34012084	7	5	262	1	0	1	0	1	0	0	0	0	15457	242	9	0	1164	0	SYNJ1	21	34012084	Frame_Shift_Del	DEL	A	TCGA-B4-5838-01A-11D-1669-08		34012084	14117811	76	15816											
GCFC1	94104	broad.mit.edu	37	21	34136826	34136826	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr21:34136826G>T	ENST00000331923.4	-	3	671	c.482C>A	c.(481-483)cCt>cAt	p.P161H	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.P161H	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	161					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTTGTCCAAAGGTTGTTCACC	0.269																																																0													81	70	74					21																	34136826		2202	4300	6502	SO:0001583	missense	94104			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.482C>A	21.37:g.34136826G>T	ENSP00000328992:p.Pro161His		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118117	0.37339	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.32272	1.89;1.46	5.55	5.55	0.83447	.	0.345278	0.34178	N	0.004184	T	0.25680	0.0625	N	0.24115	0.695	0.38460	D	0.947186	B;P	0.37864	0.429;0.61	B;B	0.42555	0.391;0.241	T	0.08207	-1.0733	10	0.33141	T	0.24	-6.7264	12.4621	0.55736	0.077:0.0:0.923:0.0	.	161;161	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	H	161	ENSP00000328992:P161H;ENSP00000290178:P161H	ENSP00000290178:P161H	P	-	2	0	GCFC1	33058697	0.900000	0.30661	0.983000	0.44433	0.995000	0.86356	3.802000	0.55553	2.619000	0.88677	0.655000	0.94253	CCT		0.269	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		T	34136826	G	T	34136826	3	4	262	1	0	0	0	0	1	0	0	0	6291	1000	35	4	2453	4	GCFC1	21	34136826	Missense_Mutation	SNP	G	TCGA-B4-5838-01A-11D-1669-08	124742	34136826	13993069	77	15817											
EFCAB6	64800	broad.mit.edu	37	22	43972202	43972202	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr22:43972202T>G	ENST00000262726.7	-	26	3648	c.3395A>C	c.(3394-3396)cAg>cCg	p.Q1132P	EFCAB6_ENST00000396231.2_Missense_Mutation_p.Q980P	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCTAAAGTTCTGGAGAAAATA	0.313																																																0													42	48	46					22																	43972202		2203	4299	6502	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3395A>C	22.37:g.43972202T>G	ENSP00000262726:p.Gln1132Pro		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962798	0.53507	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08282	3.11;3.11	5.38	4.31	0.51392	EF-hand-like domain (1);	0.293833	0.31660	N	0.007273	T	0.11580	0.0282	L	0.55481	1.735	0.80722	D	1	P;P	0.52577	0.867;0.954	B;P	0.47470	0.439;0.548	T	0.02639	-1.1130	10	0.34782	T	0.22	-18.221	9.0223	0.36206	0.0:0.1377:0.0:0.8623	.	980;1132	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	P	980;1132	ENSP00000379533:Q980P;ENSP00000262726:Q1132P	ENSP00000262726:Q1132P	Q	-	2	0	EFCAB6	42303535	0.996000	0.38824	1.000000	0.80357	0.959000	0.62525	2.103000	0.41806	2.261000	0.74972	0.533000	0.62120	CAG		0.313	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		G	43972202	T	G	43972202	3	3	262	1	0	0	0	0	1	0	0	0	4941	1580	55	5	1138	5	EFCAB6	22	43972202	Missense_Mutation	SNP	T	TCGA-B4-5838-01A-11D-1669-08		43972202	7332364	78	15818											
CELSR1	9620	broad.mit.edu	37	22	46806460	46806460	+	Splice_Site	SNP	T	T	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chr22:46806460T>G	ENST00000262738.3	-	7	4769		c.e7-2			NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1						anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCAGGGACCTGGGTAGGTAA	0.632																																																0													43	43	43					22																	46806460		2203	4300	6503	SO:0001630	splice_region_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4770-2A>C	22.37:g.46806460T>G			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Splice_Site	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378023	0.61735	.	.	ENSG00000075275	ENST00000262738	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9224	0.63940	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CELSR1	45185124	1.000000	0.71417	0.963000	0.40424	0.576000	0.36127	7.418000	0.80167	1.769000	0.52152	0.533000	0.62120	.		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	Intron	G	46806460	T	G	46806460	5	3	262	1	0	0	0	0	0	0	1	0	3223	1594	55	5	4392	5	CELSR1	22	46806460	Splice_Site	SNP	T	TCGA-B4-5838-01A-11D-1669-08	2834258	46806460	4498106	79	15819											
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)											5	Unknown(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)								1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC			Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37	CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	262	1	0	1	0	1	0	0	0	0	10729	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-B4-5838-01A-11D-1669-08		51239296	104031264	80	15820											
ALG13	79868	broad.mit.edu	37	X	110996020	110996020	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chrX:110996020A>G	ENST00000394780.3	+	25	2947	c.2935A>G	c.(2935-2937)Aca>Gca	p.T979A	ALG13_ENST00000251943.4_Missense_Mutation_p.T796A|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	979					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.T796S(1)|p.T301S(1)|p.T979S(1)		endometrium(2)|lung(10)|skin(1)	13						AATTTTAGATACAAAAGTTTT	0.323																																																3	Substitution - Missense(3)	lung(3)											66	54	58					X																	110996020		1568	3580	5148	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2935A>G	X.37:g.110996020A>G	ENSP00000378260:p.Thr979Ala		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.287032	0.40494	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.56611	1.35;0.45	5.34	4.17	0.49024	.	0.137716	0.48767	D	0.000168	T	0.46964	0.1420	L	0.59436	1.845	0.26859	N	0.968008	B;B;B	0.30914	0.3;0.022;0.167	B;B;B	0.35182	0.197;0.018;0.124	T	0.38672	-0.9650	10	0.29301	T	0.29	-3.0478	7.07	0.25173	0.7751:0.1451:0.0798:0.0	.	901;979;796	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	A	796;979;533	ENSP00000251943:T796A;ENSP00000378260:T979A	ENSP00000251943:T796A	T	+	1	0	ALG13	110882676	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.199000	0.42715	0.765000	0.33221	0.441000	0.28932	ACA		0.323	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		G	110996020	A	G	110996020	3	3	262	1	0	0	0	0	1	0	0	0	515	391	14	3	3175	3	ALG13	23	110996020	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	59756724	110996020	44274540	81	15821											
F9	2158	broad.mit.edu	37	X	138644198	138644198	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chrX:138644198A>C	ENST00000218099.2	+	8	1361	c.1354A>C	c.(1354-1356)Aac>Cac	p.N452H	F9_ENST00000394090.2_Missense_Mutation_p.N414H	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	452	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CCGGTATGTCAACTGGATTAA	0.373																																																0													60	60	60					X																	138644198		2202	4299	6501	SO:0001583	missense	2158			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1354A>C	X.37:g.138644198A>C	ENSP00000218099:p.Asn452His		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927729	0.34002	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93247	-3.19;-3.19	5.59	4.41	0.53225	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.282916	0.43110	D	0.000615	D	0.88837	0.6545	L	0.43152	1.355	0.29461	N	0.857738	B;B	0.19817	0.039;0.02	B;B	0.24155	0.051;0.051	T	0.82112	-0.0618	10	0.52906	T	0.07	.	5.983	0.19417	0.7522:0.1644:0.0834:0.0	.	414;452	Q5FBE1;P00740	.;FA9_HUMAN	H	452;414	ENSP00000218099:N452H;ENSP00000377650:N414H	ENSP00000218099:N452H	N	+	1	0	F9	138471864	0.016000	0.18221	0.998000	0.56505	0.894000	0.52154	1.953000	0.40352	0.719000	0.32188	0.486000	0.48141	AAC		0.373	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			C	138644198	A	C	138644198	3	2	262	1	0	0	0	0	1	0	0	0	5353	130	5	5	1384	5	F9	23	138644198	Missense_Mutation	SNP	A	TCGA-B4-5838-01A-11D-1669-08	27648178	138644198	16626362	82	15822											
HCFC1	3054	broad.mit.edu	37	X	153223256	153223256	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5838-01A-11D-1669-08	TCGA-B4-5838-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e44673-c942-45f2-a588-cae1d3655bb8	72b65a50-86e6-47ba-84a9-83c4c33496be	g.chrX:153223256C>G	ENST00000310441.7	-	12	3076	c.2110G>C	c.(2110-2112)Ggt>Cgt	p.G704R	HCFC1_ENST00000369984.4_Missense_Mutation_p.G704R|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.G635R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	704	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCACAGGACCCGTGGACGCC	0.552																																																0													83	86	85					X																	153223256		2006	4152	6158	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2110G>C	X.37:g.153223256C>G	ENSP00000309555:p.Gly704Arg		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131808	0.77662	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03242	4.0;4.01;4.0	5.24	5.24	0.73138	.	0.102224	0.64402	D	0.000003	T	0.04907	0.0132	N	0.14661	0.345	0.40612	D	0.981681	P	0.50943	0.94	P	0.47915	0.561	T	0.52132	-0.8616	10	0.62326	D	0.03	.	16.5893	0.84761	0.0:1.0:0.0:0.0	.	704	P51610	HCFC1_HUMAN	R	704;704;635	ENSP00000309555:G704R;ENSP00000359001:G704R;ENSP00000346174:G635R	ENSP00000309555:G704R	G	-	1	0	HCFC1	152876450	1.000000	0.71417	0.803000	0.32268	0.950000	0.60333	5.513000	0.67037	2.174000	0.68829	0.600000	0.82982	GGT		0.552	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		G	153223256	C	G	153223256	3	3	262	1	0	0	0	0	1	0	0	0	6993	623	22	4	4057	4	HCFC1	23	153223256	Missense_Mutation	SNP	C	TCGA-B4-5838-01A-11D-1669-08	14579058	153223256	2047304	83	15823											
PTPRU	10076	broad.mit.edu	37	1	29647213	29647213	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:29647213C>T	ENST00000345512.3	+	27	3863	c.3734C>T	c.(3733-3735)gCg>gTg	p.A1245V	PTPRU_ENST00000428026.2_Missense_Mutation_p.A1232V|PTPRU_ENST00000356870.3_Missense_Mutation_p.A1241V|PTPRU_ENST00000460170.2_Missense_Mutation_p.A1241V|PTPRU_ENST00000373779.3_Missense_Mutation_p.A1235V|PTPRU_ENST00000323874.8_Missense_Mutation_p.A1241V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1245	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.			A -> R (in Ref. 4; AAC51938). {ECO:0000305}.	canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACACGGAGTGCGGCCTTCATC	0.657																																																0													71	66	67					1																	29647213		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3734C>T	1.37:g.29647213C>T	ENSP00000334941:p.Ala1245Val		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026499	0.75390	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.24	4.24	0.50183	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	M	0.62266	1.93	0.58432	D	0.999996	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998	P;P;P;D;D	0.65443	0.892;0.892;0.892;0.935;0.935	D	0.88383	0.3003	9	.	.	.	.	16.1698	0.81801	0.0:1.0:0.0:0.0	.	1232;1241;1235;1241;1245	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	1245;1235;1241;1241;1232;1241	ENSP00000334941:A1245V;ENSP00000362884:A1235V;ENSP00000349333:A1241V;ENSP00000314987:A1241V;ENSP00000392332:A1232V;ENSP00000432906:A1241V	.	A	+	2	0	PTPRU	29519800	1.000000	0.71417	0.976000	0.42696	0.362000	0.29581	7.651000	0.83577	2.354000	0.79902	0.462000	0.41574	GCG		0.657	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			T	29647213	C	T	29647213	3	4	263	1	0	0	0	0	1	0	0	0	12819	768	27	1	3862	1	PTPRU	1	29647213	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08		29647213	219603408	1	15824											
BAI2	576	broad.mit.edu	37	1	32207698	32207698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:32207698delC	ENST00000373658.3	-	8	1714	c.1373delG	c.(1372-1374)ggtfs	p.G458fs	BAI2_ENST00000373655.2_Frame_Shift_Del_p.G458fs|BAI2_ENST00000398556.3_Frame_Shift_Del_p.G406fs|BAI2_ENST00000257070.4_Frame_Shift_Del_p.G458fs|BAI2_ENST00000398542.1_Frame_Shift_Del_p.G391fs|BAI2_ENST00000527361.1_Frame_Shift_Del_p.G458fs|BAI2_ENST00000398547.1_Frame_Shift_Del_p.G391fs|BAI2_ENST00000398538.1_Frame_Shift_Del_p.G446fs|BAI2_ENST00000440175.2_Frame_Shift_Del_p.G100fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	458	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTGAGGGCACCCGTGCATGT	0.677																																																0													30	35	34					1																	32207698		2203	4300	6503	SO:0001589	frameshift_variant	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1373delG	1.37:g.32207698delC	ENSP00000362762:p.Gly458fs		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Frame_Shift_Del	DEL	ENST00000373658.3	37	CCDS346.2																																																																																				0.677	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		-	32207698	C	-	32207698	7	5	263	1	0	1	0	1	0	0	0	0	1299	507	18	0	3488	0	BAI2	1	32207698	Frame_Shift_Del	DEL	C	TCGA-B4-5843-01A-11D-1669-08	2560485	32207698	217042923	2	15825											
SPOCD1	90853	broad.mit.edu	37	1	32279573	32279573	+	Silent	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:32279573G>A	ENST00000360482.2	-	2	1491	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	SPOCD1_ENST00000373648.2_Silent_p.S454S|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Silent_p.S454S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	454					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCCTCCTGGGCTGGGTTCCT	0.552																																																0													75	79	78					1																	32279573		2203	4300	6503	SO:0001819	synonymous_variant	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1362C>T	1.37:g.32279573G>A			Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	CCDS347.1																																																																																				0.552	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		A	32279573	G	A	32279573	2	1	263	1	0	0	0	0	0	0	0	1	15083	1194	42	2		2	SPOCD1	1	32279573	Silent	SNP	G	TCGA-B4-5843-01A-11D-1669-08	71875	32279573	216971048	3	15826											
PTCH2	8643	broad.mit.edu	37	1	45297924	45297924	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:45297924C>T	ENST00000372192.3	-	3	485	c.355G>A	c.(355-357)Gca>Aca	p.A119T	PTCH2_ENST00000447098.2_Missense_Mutation_p.A119T	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	119					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCCTGGCGTGCGGTCTGTATC	0.587									Basal Cell Nevus syndrome																																							0													256	223	234					1																	45297924		2203	4300	6503	SO:0001583	missense	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.355G>A	1.37:g.45297924C>T	ENSP00000361266:p.Ala119Thr		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682229	0.29872	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92348	-3.02;-3.02	4.67	1.71	0.24356	.	0.141093	0.32785	N	0.005643	D	0.87038	0.6078	L	0.46157	1.445	0.25495	N	0.987606	B	0.21520	0.057	B	0.23018	0.043	T	0.77161	-0.2689	10	0.48119	T	0.1	-2.0844	8.1039	0.30874	0.235:0.2467:0.5183:0.0	.	119	Q9Y6C5	PTC2_HUMAN	T	119	ENSP00000389703:A119T;ENSP00000361266:A119T	ENSP00000361266:A119T	A	-	1	0	PTCH2	45070511	0.832000	0.29368	0.277000	0.24703	0.447000	0.32167	1.199000	0.32235	0.186000	0.20125	-0.268000	0.10319	GCA		0.587	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		T	45297924	C	T	45297924	3	4	263	1	0	0	0	0	1	0	0	0	12736	768	27	1	3356	1	PTCH2	1	45297924	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08	13018351	45297924	203952697	4	15827											
TGFBR3	7049	broad.mit.edu	37	1	92193363	92193363	+	Splice_Site	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:92193363A>G	ENST00000525962.1	-	6	799	c.738T>C	c.(736-738)agT>agC	p.S246S	TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Splice_Site_p.S246S|TGFBR3_ENST00000212355.4_Splice_Site_p.S246S			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	246					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCTGGAAAGCACTGTGAATGG	0.408																																																0													67	64	65					1																	92193363		2203	4300	6503	SO:0001630	splice_region_variant	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.738-1T>C	1.37:g.92193363A>G			A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Splice_Site	SNP	ENST00000525962.1	37	CCDS30770.1																																																																																				0.408	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	Silent	G	92193363	A	G	92193363	5	3	263	1	0	0	0	0	0	0	1	0	15828	173	6	3	1861	3	TGFBR3	1	92193363	Splice_Site	SNP	A	TCGA-B4-5843-01A-11D-1669-08	46895439	92193363	157057258	5	15828											
RPAP2	79871	broad.mit.edu	37	1	92789348	92789348	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:92789348C>T	ENST00000610020.1	+	8	980	c.871C>T	c.(871-873)Cct>Tct	p.P291S	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	291					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ATGTGAACTTCCTTTACAGAA	0.368																																																0													95	99	97					1																	92789348		2203	4299	6502	SO:0001583	missense	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.871C>T	1.37:g.92789348C>T	ENSP00000476948:p.Pro291Ser		C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	CCDS740.1	.	.	.	.	.	.	.	.	.	.	C	5.050	0.194974	0.09599	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.55	3.51	0.40186	.	0.362051	0.30752	N	0.008957	T	0.24661	0.0598	L	0.55103	1.725	0.30917	N	0.7284280000000001	B	0.26195	0.144	B	0.23150	0.044	T	0.08638	-1.0712	8	0.35671	T	0.21	-11.7192	5.7827	0.18316	0.1372:0.6232:0.134:0.1056	.	291	Q8IXW5	RPAP2_HUMAN	S	291	.	ENSP00000359368:P291S	P	+	1	0	RPAP2	92561936	0.256000	0.24012	0.995000	0.50966	0.657000	0.38888	0.495000	0.22483	1.529000	0.49120	0.655000	0.94253	CCT		0.368	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		T	92789348	C	T	92789348	3	4	263	1	0	0	0	0	1	0	0	0	13548	855	30	2	901	2	RPAP2	1	92789348	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08	595985	92789348	156461273	6	15829											
RUSC1	23623	broad.mit.edu	37	1	155291790	155291790	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:155291790G>A	ENST00000368352.5	+	2	377	c.226G>A	c.(226-228)Gag>Aag	p.E76K	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.E76K|RUSC1_ENST00000292254.4_5'Flank|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	76					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGCTGCCAGGAGCACGGTCC	0.672																																																0													21	23	23					1																	155291790		1951	4134	6085	SO:0001583	missense	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.226G>A	1.37:g.155291790G>A	ENSP00000357336:p.Glu76Lys		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253880	0.39896	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.34472	1.41;1.36	4.49	3.58	0.41010	.	0.255317	0.27764	N	0.017953	T	0.08626	0.0214	N	0.19112	0.55	0.80722	D	1	P	0.43750	0.816	B	0.34093	0.175	T	0.06661	-1.0814	10	0.66056	D	0.02	-14.6931	5.9528	0.19257	0.1037:0.1951:0.7012:0.0	.	76	Q9BVN2	RUSC1_HUMAN	K	76	ENSP00000357338:E76K;ENSP00000357336:E76K	ENSP00000357336:E76K	E	+	1	0	RUSC1	153558414	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	1.237000	0.32695	1.109000	0.41680	0.561000	0.74099	GAG		0.672	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			A	155291790	G	A	155291790	3	1	263	1	0	0	0	0	1	0	0	0	13756	1175	41	2	228	2	RUSC1	1	155291790	Missense_Mutation	SNP	G	TCGA-B4-5843-01A-11D-1669-08	62502442	155291790	93958831	7	15830											
OR10T2	128360	broad.mit.edu	37	1	158369112	158369112	+	Missense_Mutation	SNP	C	C	A	rs187897996	byFrequency	TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:158369112C>A	ENST00000334438.1	-	1	144	c.145G>T	c.(145-147)Gtt>Ttt	p.V49F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAGCGAATAACGGCCATGATG	0.488																																																0													59	61	60					1																	158369112		2203	4300	6503	SO:0001583	missense	128360			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.145G>T	1.37:g.158369112C>A	ENSP00000334115:p.Val49Phe		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	C	3.680	-0.065698	0.07273	.	.	ENSG00000186306	ENST00000334438	T	0.03094	4.05	4.73	1.84	0.25277	GPCR, rhodopsin-like superfamily (1);	0.224693	0.22213	U	0.063079	T	0.02848	0.0085	M	0.83953	2.67	0.09310	N	1	P	0.42010	0.768	P	0.44647	0.456	T	0.32693	-0.9897	10	0.87932	D	0	.	3.3734	0.07229	0.1384:0.5691:0.1346:0.1579	.	49	Q8NGX3	O10T2_HUMAN	F	49	ENSP00000334115:V49F	ENSP00000334115:V49F	V	-	1	0	OR10T2	156635736	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.873000	0.01637	0.221000	0.20879	-0.841000	0.03054	GTT		0.488	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		A	158369112	C	A	158369112	3	1	263	1	0	0	0	0	1	0	0	0	10921	536	19	4	801	4	OR10T2	1	158369112	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08	3077322	158369112	90881509	8	15831											
VSIG8	391123	broad.mit.edu	37	1	159827673	159827673	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:159827673C>G	ENST00000368100.1	-	4	649	c.514G>C	c.(514-516)Ggc>Cgc	p.G172R	C1orf204_ENST00000491974.1_5'Flank|C1orf204_ENST00000368102.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	172	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					GGCTGGGAGCCCCCACTGGCA	0.587																																																0													70	68	69					1																	159827673		2203	4300	6503	SO:0001583	missense	391123				CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"Immunoglobulin superfamily / V-set domain containing"	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.514G>C	1.37:g.159827673C>G	ENSP00000357080:p.Gly172Arg		Q5VU14	Missense_Mutation	SNP	ENST00000368100.1	37	CCDS30913.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071644	0.76301	.	.	ENSG00000243284	ENST00000368100	T	0.02709	4.19	5.15	5.15	0.70609	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051680	0.85682	D	0.000000	T	0.13713	0.0332	M	0.90870	3.155	0.51012	D	0.999902	D	0.89917	1.0	D	0.85130	0.997	T	0.00660	-1.1622	10	0.87932	D	0	.	14.1485	0.65367	0.0:1.0:0.0:0.0	.	172	Q5VU13	VSIG8_HUMAN	R	172	ENSP00000357080:G172R	ENSP00000357080:G172R	G	-	1	0	VSIG8	158094297	0.995000	0.38212	1.000000	0.80357	0.958000	0.62258	2.759000	0.47573	2.409000	0.81822	0.561000	0.74099	GGC		0.587	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		G	159827673	C	G	159827673	3	3	263	1	0	0	0	0	1	0	0	0	17231	623	22	4	746	4	VSIG8	1	159827673	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08	1458561	159827673	89422948	9	15832											
C1orf114	57821	broad.mit.edu	37	1	169364364	169364364	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:169364364delG	ENST00000367806.3	-	6	1603	c.1451delC	c.(1450-1452)gctfs	p.A484fs	CCDC181_ENST00000545005.1_Frame_Shift_Del_p.A483fs|CCDC181_ENST00000367805.3_Frame_Shift_Del_p.A483fs|BLZF1_ENST00000329281.2_Intron	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	484						nucleus (GO:0005634)											AGAACGCTTAGCTTCTAGTCG	0.383																																																0													156	144	148					1																	169364364		2203	4300	6503	SO:0001589	frameshift_variant	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1451delC	1.37:g.169364364delG	ENSP00000356780:p.Ala484fs		O60780|Q53FD5|Q5TID9|Q8TC48	Frame_Shift_Del	DEL	ENST00000367806.3	37																																																																																					0.383	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		-	169364364	G	-	169364364	7	5	263	1	0	1	0	1	0	0	0	0	1989	971	34	0	82	0	C1orf114	1	169364364	Frame_Shift_Del	DEL	G	TCGA-B4-5843-01A-11D-1669-08	9536691	169364364	79886257	10	15833											
SCYL3	57147	broad.mit.edu	37	1	169857876	169857876	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:169857876A>G	ENST00000367770.1	-	1	153	c.106T>C	c.(106-108)Ttt>Ctt	p.F36L	SCYL3_ENST00000367771.6_Missense_Mutation_p.F36L|SCYL3_ENST00000367772.4_Missense_Mutation_p.F36L|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	36	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGAAGCAAATTTGCCATCT	0.383																																																0													177	165	169					1																	169857876		2203	4300	6503	SO:0001583	missense	57147			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.106T>C	1.37:g.169857876A>G	ENSP00000356744:p.Phe36Leu		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.313469	0.23908	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.28	-5.23	0.02798	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.575482	0.19665	N	0.108895	T	0.16085	0.0387	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.50268	-0.8848	9	.	.	.	1.5301	9.2981	0.37829	0.1669:0.2711:0.562:0.0	.	36;36	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	L	36	ENSP00000356746:F36L;ENSP00000356745:F36L;ENSP00000356744:F36L;ENSP00000407993:F36L	.	F	-	1	0	SCYL3	168124500	0.336000	0.24757	0.001000	0.08648	0.980000	0.70556	1.872000	0.39549	-0.812000	0.04363	0.533000	0.62120	TTT		0.383	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		G	169857876	A	G	169857876	3	3	263	1	0	0	0	0	1	0	0	0	13955	101	4	3	2174	3	SCYL3	1	169857876	Missense_Mutation	SNP	A	TCGA-B4-5843-01A-11D-1669-08	493512	169857876	79392745	11	15834											
TBCE	6905	broad.mit.edu	37	1	235599139	235599139	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:235599139A>C	ENST00000366601.3	+	9	993	c.817A>C	c.(817-819)Ata>Cta	p.I273L	TBCE_ENST00000406207.1_Missense_Mutation_p.I273L|TBCE_ENST00000543662.1_Missense_Mutation_p.I324L|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	273					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GCTGTATCTGATAGCCCACCT	0.363																																																0													112	114	114					1																	235599139		2203	4300	6503	SO:0001583	missense	6905			U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"tubulin-specific chaperone e", "Kenny-Caffey syndrome", "hypoparathyroidism, growth and mental retardation, and dysmorphism"	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.817A>C	1.37:g.235599139A>C	ENSP00000355560:p.Ile273Leu		A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	A	3.817	-0.038554	0.07497	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.27557	2.08;2.08;1.66	5.73	3.25	0.37280	.	0.142352	0.64402	D	0.000009	T	0.13329	0.0323	N	0.05574	-0.02	0.49483	D	0.999796	B;B;B	0.22003	0.063;0.027;0.002	B;B;B	0.20577	0.03;0.018;0.004	T	0.12218	-1.0556	10	0.02654	T	1	-25.4684	12.3045	0.54893	0.7326:0.2674:0.0:0.0	.	324;273;273	B7Z3P1;A8K8C2;Q15813	.;.;TBCE_HUMAN	L	273;273;324	ENSP00000355560:I273L;ENSP00000384571:I273L;ENSP00000439170:I324L	ENSP00000355560:I273L	I	+	1	0	TBCE	233665762	0.992000	0.36948	0.960000	0.40013	0.017000	0.09413	3.092000	0.50207	0.984000	0.38629	-0.438000	0.05819	ATA		0.363	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		C	235599139	A	C	235599139	3	2	263	1	0	0	0	0	1	0	0	0	15639	333	12	5	847	5	TBCE	1	235599139	Missense_Mutation	SNP	A	TCGA-B4-5843-01A-11D-1669-08	65741263	235599139	13651482	12	15835											
FMN2	56776	broad.mit.edu	37	1	240371134	240371134	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:240371134A>G	ENST00000319653.9	+	5	3252	c.3022A>G	c.(3022-3024)Ata>Gta	p.I1008V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1008	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAGCGGGCATACCCCCTCC	0.716																																																0													3	4	3					1																	240371134		1552	3420	4972	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3022A>G	1.37:g.240371134A>G	ENSP00000318884:p.Ile1008Val		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	6.788	0.514451	0.12944	.	.	ENSG00000155816	ENST00000319653	T	0.52295	0.67	3.48	2.36	0.29203	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.494340	0.18539	N	0.138256	T	0.31295	0.0792	L	0.31845	0.965	0.09310	N	0.999999	B	0.12013	0.005	B	0.15484	0.013	T	0.10132	-1.0643	9	.	.	.	.	7.0981	0.25321	0.8207:0.0:0.1793:0.0	.	1008	Q9NZ56	FMN2_HUMAN	V	1008	ENSP00000318884:I1008V	.	I	+	1	0	FMN2	238437757	0.469000	0.25846	0.036000	0.18154	0.010000	0.07245	1.694000	0.37752	1.592000	0.50018	0.392000	0.25879	ATA		0.716	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		G	240371134	A	G	240371134	3	3	263	1	0	0	0	0	1	0	0	0	5952	217	8	3	3040	3	FMN2	1	240371134	Missense_Mutation	SNP	A	TCGA-B4-5843-01A-11D-1669-08	4771995	240371134	8879487	13	15836											
RAD51AP2	729475	broad.mit.edu	37	2	17698606	17698606	+	Silent	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr2:17698606A>G	ENST00000399080.2	-	1	1100	c.1077T>C	c.(1075-1077)aaT>aaC	p.N359N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	359										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTCTCTTACATTACACTGGA	0.378																																																0													57	55	55					2																	17698606		1823	4082	5905	SO:0001819	synonymous_variant	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1077T>C	2.37:g.17698606A>G				Silent	SNP	ENST00000399080.2	37	CCDS42656.1																																																																																				0.378	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		G	17698606	A	G	17698606	2	3	263	1	0	0	0	0	0	0	0	1	12993	214	8	3		3	RAD51AP2	2	17698606	Silent	SNP	A	TCGA-B4-5843-01A-11D-1669-08		17698606	225500767	14	15837											
HS6ST1	9394	broad.mit.edu	37	2	129026219	129026220	+	Frame_Shift_Ins	INS	-	-	A	rs374446596		TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr2:129026219_129026220insA	ENST00000259241.6	-	2	765_766	c.752_753insT	c.(751-753)gtgfs	p.V251fs		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	251					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCAGCATGCGCACCTGGCGGTT	0.658																																																0																																										SO:0001589	frameshift_variant	9394			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.753dupT	2.37:g.129026220_129026220dupA	ENSP00000259241:p.Val251fs		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Frame_Shift_Ins	INS	ENST00000259241.6	37	CCDS42748.1																																																																																				0.658	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		A	129026220	-	A	129026219	7	5	263	1	0	1	1	0	0	0	0	0	7372	697	25	0	486	0	HS6ST1	2	129026219	Frame_Shift_Ins	INS	-	TCGA-B4-5843-01A-11D-1669-08	111327613	129026219	114173154	15	15838											
DNAJC10	54431	broad.mit.edu	37	2	183593374	183593374	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr2:183593374T>A	ENST00000264065.7	+	6	905	c.490T>A	c.(490-492)Tta>Ata	p.L164I	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.L164I	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	164	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTGCCATGATTTAGCTCCCAC	0.303																																					Pancreas(56;860 1183 25669 35822 48585)											0													110	107	108					2																	183593374		2203	4300	6503	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.490T>A	2.37:g.183593374T>A	ENSP00000264065:p.Leu164Ile		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681632	0.88542	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	T;T	0.03951	3.75;3.75	5.87	4.73	0.59995	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.64402	D	0.000001	T	0.23410	0.0566	M	0.89095	3.005	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.00936	-1.1508	10	0.72032	D	0.01	.	9.0775	0.36531	0.0:0.1398:0.0:0.8602	.	164;164	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	I	164	ENSP00000264065:L164I;ENSP00000441560:L164I	ENSP00000264065:L164I	L	+	1	2	DNAJC10	183301619	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.486000	0.53215	1.165000	0.42670	0.533000	0.62120	TTA		0.303	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		A	183593374	T	A	183593374	3	1	263	1	0	0	0	0	1	0	0	0	4631	1838	64	5	504	5	DNAJC10	2	183593374	Missense_Mutation	SNP	T	TCGA-B4-5843-01A-11D-1669-08	54567155	183593374	59605999	16	15839											
VHL	7428	broad.mit.edu	37	3	10183860	10183860	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr3:10183860A>C	ENST00000256474.2	+	1	1169	c.329A>C	c.(328-330)cAc>cCc	p.H110P	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.H110P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	110	Involved in binding to CCT complex.		H -> Y (in dbSNP:rs17855706). {ECO:0000269|PubMed:15489334}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)|p.H110fs*49(1)|p.H110P(1)|p.I109_R113del(1)|p.G106fs*49(1)|p.H110>RIN(1)|p.H110_S111del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCCGCATCCACAGCTACCGA	0.692		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Deletion - Frameshift(2)|Deletion - In frame(2)|Unknown(2)|Substitution - Missense(1)|Complex - insertion inframe(1)	kidney(8)											11	12	12					3																	10183860		1778	3722	5500	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.329A>C	3.37:g.10183860A>C	ENSP00000256474:p.His110Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.5|24.5	4.534031|4.534031	0.85812|0.85812	.|.	.|.	ENSG00000134086|ENSG00000134086	ENST00000450183|ENST00000256474;ENST00000345392	.|D;D	.|0.99815	.|-6.9;-6.9	5.17|5.17	4.0|4.0	0.46444|0.46444	.|von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	.|0.287952	.|0.36778	.|N	.|0.002409	.|D	.|0.99257	.|0.9741	N|N	0.14661|0.14661	0.345|0.345	0.22728|0.22728	N|N	0.99881|0.99881	.|D;D	.|0.64830	.|0.994;0.98	.|P;D	.|0.65443	.|0.899;0.935	.|D	.|0.96691	.|0.9511	.|10	.|0.54805	.|T	.|0.06	.|-9.4471	9.4186|9.4186	0.38536|0.38536	0.9131:0.0:0.0869:0.0|0.9131:0.0:0.0869:0.0	.|.	.|110;110	.|P40337-2;P40337	.|.;VHL_HUMAN	.|P	-1|110	.|ENSP00000256474:H110P;ENSP00000344757:H110P	.|ENSP00000256474:H110P	.|H	+|+	.|2	.|0	VHL|VHL	10158860|10158860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.097000|2.097000	0.41748|0.41748	1.965000|1.965000	0.57142|0.57142	0.393000|0.393000	0.25936|0.25936	.|CAC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10183860	A	C	10183860	3	2	263	1	0	0	0	0	1	0	0	0	17167	159	6	5	331	5	VHL	3	10183860	Missense_Mutation	SNP	A	TCGA-B4-5843-01A-11D-1669-08		10183860	187838570	17	15840											
STAG1	10274	broad.mit.edu	37	3	136062680	136062683	+	Frame_Shift_Del	DEL	AAAA	AAAA	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr3:136062680_136062683delAAAA	ENST00000383202.2	-	30	3693_3696	c.3437_3440delTTTT	c.(3436-3441)tttttafs	p.FL1146fs	STAG1_ENST00000236698.5_Frame_Shift_Del_p.FL1146fs|STAG1_ENST00000434713.2_Frame_Shift_Del_p.FL886fs|STAG1_ENST00000536929.1_Frame_Shift_Del_p.FL730fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1146					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTACTTGTGTAAAAAGTCTGGTTC	0.382																																																0																																										SO:0001589	frameshift_variant	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3437_3440delTTTT	3.37:g.136062680_136062683delAAAA	ENSP00000372689:p.Phe1146fs		O00539|Q6P275	Frame_Shift_Del	DEL	ENST00000383202.2	37	CCDS3090.1																																																																																				0.382	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		-	136062683	AAAA	-	136062680	7	5	263	1	0	1	0	1	0	0	0	0	15247	372	13	0	356	0	STAG1	3	136062680	Frame_Shift_Del	DEL	AAAA	TCGA-B4-5843-01A-11D-1669-08	125878820	136062680	61959750	18	15841											
BOD1L	259282	broad.mit.edu	37	4	13602337	13602337	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr4:13602337C>T	ENST00000040738.5	-	10	6322	c.6187G>A	c.(6187-6189)Ggg>Agg	p.G2063R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2063						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTTTACCCCCTGCTAAGCTA	0.433																																																0													93	91	92					4																	13602337		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6187G>A	4.37:g.13602337C>T	ENSP00000040738:p.Gly2063Arg		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766515	0.49574	.	.	ENSG00000038219	ENST00000040738	T	0.08720	3.06	5.47	3.75	0.43078	.	0.230615	0.30473	N	0.009557	T	0.06781	0.0173	L	0.33339	1.005	0.09310	N	1	B	0.32031	0.352	B	0.31614	0.133	T	0.28808	-1.0032	10	0.59425	D	0.04	-6.6675	7.0224	0.24922	0.131:0.6955:0.0:0.1734	.	2063	Q8NFC6	BOD1L_HUMAN	R	2063	ENSP00000040738:G2063R	ENSP00000040738:G2063R	G	-	1	0	BOD1L	13211435	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.087000	0.14958	0.676000	0.31285	0.555000	0.69702	GGG		0.433	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		T	13602337	C	T	13602337	3	4	263	1	0	0	0	0	1	0	0	0	1483	681	24	2	3036	2	BOD1L	4	13602337	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08		13602337	177551939	19	15842											
UGT2B28	54490	broad.mit.edu	37	4	70148312	70148312	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr4:70148312C>T	ENST00000335568.5	+	2	804	c.802C>T	c.(802-804)Cat>Tat	p.H268Y	UGT2B28_ENST00000511240.1_Missense_Mutation_p.H268Y	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	268					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAATTTCCTCATCCATTCTT	0.403																																																0													125	151	143					4																	70148312		2037	4242	6279	SO:0001583	missense	54490			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.802C>T	4.37:g.70148312C>T	ENSP00000334276:p.His268Tyr		B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	5.071	0.198782	0.09652	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.59224	0.28;0.28	2.18	2.18	0.27775	.	0.146541	0.46758	U	0.000271	T	0.54095	0.1837	M	0.72118	2.19	0.25780	N	0.984732	B;B	0.15719	0.002;0.014	B;B	0.21151	0.012;0.033	T	0.55698	-0.8100	10	0.59425	D	0.04	.	10.0404	0.42155	0.0:1.0:0.0:0.0	.	268;268	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	Y	268	ENSP00000334276:H268Y;ENSP00000427399:H268Y	ENSP00000334276:H268Y	H	+	1	0	UGT2B28	70182901	0.943000	0.32029	0.070000	0.20053	0.003000	0.03518	2.992000	0.49417	1.229000	0.43630	0.184000	0.17185	CAT		0.403	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		T	70148312	C	T	70148312	3	4	263	1	0	0	0	0	1	0	0	0	16965	826	29	2	808	2	UGT2B28	4	70148312	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08	56545975	70148312	121005964	20	15843											
C5orf34	375444	broad.mit.edu	37	5	43506009	43506009	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr5:43506009G>A	ENST00000306862.2	-	4	1148	c.773C>T	c.(772-774)gCa>gTa	p.A258V	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	258										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AAAATGAAGTGCTAAAGACAA	0.383																																																0													104	106	105					5																	43506009		2203	4300	6503	SO:0001583	missense	375444			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.773C>T	5.37:g.43506009G>A	ENSP00000303490:p.Ala258Val			Missense_Mutation	SNP	ENST00000306862.2	37	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050315	0.75846	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	T	0.56103	0.48	5.03	4.15	0.48705	.	0.254237	0.38897	N	0.001540	T	0.69602	0.3129	M	0.74881	2.28	0.41223	D	0.986526	D	0.71674	0.998	D	0.64776	0.929	T	0.74411	-0.3674	10	0.72032	D	0.01	-9.9094	13.9837	0.64321	0.0:0.151:0.849:0.0	.	258	Q96MH7	CE034_HUMAN	V	258;144	ENSP00000303490:A258V	ENSP00000303490:A258V	A	-	2	0	C5orf34	43541766	1.000000	0.71417	0.797000	0.32132	0.789000	0.44602	4.215000	0.58534	1.103000	0.41568	0.591000	0.81541	GCA		0.383	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		A	43506009	G	A	43506009	3	1	263	1	0	0	0	0	1	0	0	0	2295	1319	46	2	1183	2	C5orf34	5	43506009	Missense_Mutation	SNP	G	TCGA-B4-5843-01A-11D-1669-08		43506009	137409251	21	15844											
DMXL1	1657	broad.mit.edu	37	5	118569034	118569034	+	Splice_Site	SNP	G	G	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr5:118569034G>T	ENST00000311085.8	+	38	8355		c.e38-1		DMXL1_ENST00000505312.1_Splice_Site|DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTGTAATGCAGATCTGACAGG	0.353																																																0													105	101	102					5																	118569034		2202	4300	6502	SO:0001630	splice_region_variant	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8276-1G>T	5.37:g.118569034G>T				Splice_Site	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599992	0.87055	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9311	0.97118	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMXL1	118596933	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.400000	0.97290	2.714000	0.92807	0.655000	0.94253	.		0.353	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	Intron	T	118569034	G	T	118569034	5	4	263	1	0	0	0	0	0	0	1	0	4596	956	33	4	8425	4	DMXL1	5	118569034	Splice_Site	SNP	G	TCGA-B4-5843-01A-11D-1669-08	75063025	118569034	62346226	22	15845											
TXNDC3	51314	broad.mit.edu	37	7	37927910	37927910	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:37927910C>T	ENST00000199447.4	+	15	1651	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	NME8_ENST00000440017.1_Missense_Mutation_p.P427S|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	427	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GGACAGTTTGCCGGTCAACCA	0.368																																																0													98	96	96					7																	37927910		2203	4300	6503	SO:0001583	missense	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1279C>T	7.37:g.37927910C>T	ENSP00000199447:p.Pro427Ser		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001785	0.35320	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.52057	0.68;0.68	4.42	4.42	0.53409	.	0.957326	0.08619	N	0.918683	T	0.55721	0.1938	L	0.43554	1.36	0.32934	D	0.517549	P	0.38677	0.642	P	0.51550	0.673	T	0.54091	-0.8345	10	0.34782	T	0.22	-13.8286	12.7452	0.57278	0.0:0.8337:0.1663:0.0	.	427	Q8N427	TXND3_HUMAN	S	427	ENSP00000199447:P427S;ENSP00000397063:P427S	ENSP00000199447:P427S	P	+	1	0	TXNDC3	37894435	0.562000	0.26586	0.835000	0.33067	0.035000	0.12851	2.365000	0.44196	2.758000	0.94735	0.563000	0.77884	CCG		0.368	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		T	37927910	C	T	37927910	3	4	263	1	0	0	0	0	1	0	0	0	16803	739	26	2	1329	2	TXNDC3	7	37927910	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08		37927910	121210753	23	15846											
ELN	2006	broad.mit.edu	37	7	73466124	73466132	+	In_Frame_Del	DEL	GTTCCTGGC	GTTCCTGGC	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:73466124_73466132delGTTCCTGGC	ENST00000252034.7	+	16	1243_1251	c.844_852delGTTCCTGGC	c.(844-852)gttcctggcdel	p.VPG285del	ELN_ENST00000429192.1_In_Frame_Del_p.VPG290del|ELN_ENST00000380576.5_In_Frame_Del_p.VPG285del|ELN_ENST00000445912.1_In_Frame_Del_p.VPG285del|ELN_ENST00000380553.4_In_Frame_Del_p.VPG168del|ELN_ENST00000320492.7_In_Frame_Del_p.VPG249del|ELN_ENST00000358929.4_In_Frame_Del_p.VPG285del|ELN_ENST00000458204.1_In_Frame_Del_p.VPG275del|ELN_ENST00000320399.6_In_Frame_Del_p.VPG285del|ELN_ENST00000357036.5_In_Frame_Del_p.VPG290del|ELN_ENST00000380575.4_In_Frame_Del_p.VPG275del|ELN_ENST00000380584.4_In_Frame_Del_p.VPG271del|ELN_ENST00000380562.4_In_Frame_Del_p.VPG285del|ELN_ENST00000414324.1_In_Frame_Del_p.VPG280del	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	285	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AGGGGCTGGTGTTCCTGGCGTGCCTGGGG	0.612			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		7	7q11.23	2006	elastin	yes	L	0																																										SO:0001651	inframe_deletion	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.844_852delGTTCCTGGC	7.37:g.73466124_73466132delGTTCCTGGC	ENSP00000252034:p.Val285_Gly287del	1145	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	In_Frame_Del	DEL	ENST00000252034.7	37	CCDS5562.2																																																																																				0.612	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		-	73466132	GTTCCTGGC	-	73466124	7	5	263	1	0	1	0	1	0	0	0	0	5073	1377	48	0	921	0	ELN	7	73466124	In_Frame_Del	DEL	GTTCCTGGC	TCGA-B4-5843-01A-11D-1669-08	35538214	73466124	85672539	24	15847											
AKAP9	10142	broad.mit.edu	37	7	91631292	91631292	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:91631292T>A	ENST00000359028.2	+	9	2322	c.2097T>A	c.(2095-2097)aaT>aaA	p.N699K	AKAP9_ENST00000356239.3_Missense_Mutation_p.N687K|AKAP9_ENST00000358100.2_Missense_Mutation_p.N699K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	699	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAGGACAATTTGATAACTA	0.294			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													32	36	35					7																	91631292		2132	4230	6362	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2097T>A	7.37:g.91631292T>A	ENSP00000351922:p.Asn699Lys		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	T	6.786	0.513993	0.12944	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.44083	0.93;0.93;0.93	5.73	2.14	0.27477	.	0.479179	0.17713	N	0.164524	T	0.36468	0.0968	N	0.24115	0.695	0.25344	N	0.988926	B;B;P;P	0.41232	0.112;0.178;0.51;0.743	B;B;B;P	0.49999	0.024;0.053;0.154;0.628	T	0.15378	-1.0439	10	0.66056	D	0.02	.	6.8967	0.24260	0.0:0.4645:0.0:0.5355	.	699;687;687;699	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	K	687;699;699;699;699	ENSP00000348573:N687K;ENSP00000351922:N699K;ENSP00000350813:N699K	ENSP00000348573:N687K	N	+	3	2	AKAP9	91469228	0.002000	0.14202	0.996000	0.52242	0.985000	0.73830	-0.150000	0.10189	0.542000	0.28846	-0.281000	0.10026	AAT		0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		A	91631292	T	A	91631292	3	1	263	1	0	0	0	0	1	0	0	0	459	1490	52	5	2091	5	AKAP9	7	91631292	Missense_Mutation	SNP	T	TCGA-B4-5843-01A-11D-1669-08	18165168	91631292	67507371	25	15848											
LMTK2	22853	broad.mit.edu	37	7	97823182	97823182	+	Silent	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:97823182C>G	ENST00000297293.5	+	11	3698	c.3405C>G	c.(3403-3405)ccC>ccG	p.P1135P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1135					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGGAGCAGCCCCTACCCGAGC	0.582																																																0													49	50	50					7																	97823182		2203	4300	6503	SO:0001819	synonymous_variant	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3405C>G	7.37:g.97823182C>G			A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	CCDS5654.1																																																																																				0.582	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		G	97823182	C	G	97823182	2	3	263	1	0	0	0	0	0	0	0	1	8861	610	22	4		4	LMTK2	7	97823182	Silent	SNP	C	TCGA-B4-5843-01A-11D-1669-08	6191890	97823182	61315481	26	15849											
RBM28	55131	broad.mit.edu	37	7	127978320	127978320	+	Missense_Mutation	SNP	G	G	T	rs148752295		TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:127978320G>T	ENST00000223073.2	-	5	639	c.525C>A	c.(523-525)aaC>aaA	p.N175K	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	175	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTCTTTCATGTTCATGCCTT	0.393																																																0													124	116	119					7																	127978320		2203	4300	6503	SO:0001583	missense	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.525C>A	7.37:g.127978320G>T	ENSP00000223073:p.Asn175Lys		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152302	0.78001	.	.	ENSG00000106344	ENST00000223073	T	0.79940	-1.32	5.74	2.91	0.33838	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86424	0.1756	10	0.54805	T	0.06	-26.0251	9.4249	0.38574	0.245:0.0:0.755:0.0	.	175	Q9NW13	RBM28_HUMAN	K	175	ENSP00000223073:N175K	ENSP00000223073:N175K	N	-	3	2	RBM28	127765556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.623000	0.37008	0.761000	0.33130	0.655000	0.94253	AAC		0.393	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		T	127978320	G	T	127978320	3	4	263	1	0	0	0	0	1	0	0	0	13134	1368	48	4	1814	4	RBM28	7	127978320	Missense_Mutation	SNP	G	TCGA-B4-5843-01A-11D-1669-08	30155138	127978320	31160343	27	15850											
HNRNPK	3190	broad.mit.edu	37	9	86587818	86587818	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:86587818C>T	ENST00000376264.2	-	10	844	c.586G>A	c.(586-588)Gga>Aga	p.G196R	RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376263.3_Missense_Mutation_p.G196R|HNRNPK_ENST00000351839.3_Missense_Mutation_p.G196R|HNRNPK_ENST00000376281.4_Missense_Mutation_p.G196R|HNRNPK_ENST00000360384.5_Missense_Mutation_p.G196R	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	196	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGTTTTCCTCCAATAAGAACA	0.343																																																0													57	59	58					9																	86587818		2203	4300	6503	SO:0001583	missense	3190				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.586G>A	9.37:g.86587818C>T	ENSP00000365440:p.Gly196Arg		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751258	0.49257	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	5.13	5.13	0.70059	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	N	0.12887	0.27	0.80722	D	1	B;D;B;B;B;B;D;B	0.76494	0.004;0.997;0.017;0.017;0.02;0.01;0.999;0.025	B;D;B;B;B;B;D;B	0.74674	0.025;0.955;0.035;0.062;0.05;0.015;0.984;0.084	T	0.15607	-1.0431	10	0.15499	T	0.54	-1.6938	18.6033	0.91257	0.0:1.0:0.0:0.0	.	172;161;196;191;196;172;196;196	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	R	196;196;196;196;196;161;196;191;172;127	ENSP00000365458:G196R;ENSP00000365440:G196R;ENSP00000365439:G196R;ENSP00000317788:G196R;ENSP00000353552:G196R;ENSP00000409456:G172R	ENSP00000317788:G196R	G	-	1	0	HNRNPK	85777638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.375000	0.79646	2.375000	0.81037	0.655000	0.94253	GGA		0.343	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			T	86587818	C	T	86587818	3	4	263	1	0	0	0	0	1	0	0	0	7271	603	21	2	875	2	HNRNPK	9	86587818	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08		86587818	54625613	28	15851											
MURC	347273	broad.mit.edu	37	9	103348134	103348134	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:103348134G>C	ENST00000307584.5	+	2	561	c.496G>C	c.(496-498)Gat>Cat	p.D166H		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	166					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.D166N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TGATATCTTTGATCCCCCAGT	0.423																																																1	Substitution - Missense(1)	large_intestine(1)											68	66	67					9																	103348134		2203	4300	6503	SO:0001583	missense	347273			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.496G>C	9.37:g.103348134G>C	ENSP00000418668:p.Asp166His		B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973911	0.34848	.	.	ENSG00000170681	ENST00000307584	T	0.59502	0.26	5.16	4.13	0.48395	.	0.555553	0.20886	N	0.083902	T	0.50582	0.1624	L	0.34521	1.04	0.09310	N	0.999999	P	0.51240	0.943	P	0.51170	0.661	T	0.34079	-0.9843	10	0.14252	T	0.57	-13.3474	9.9907	0.41870	0.0:0.0:0.669:0.331	.	166	Q5BKX8	MURC_HUMAN	H	166	ENSP00000418668:D166H	ENSP00000418668:D166H	D	+	1	0	MURC	102387955	0.996000	0.38824	0.849000	0.33467	0.074000	0.17049	2.068000	0.41471	2.566000	0.86566	0.561000	0.74099	GAT		0.423	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		C	103348134	G	C	103348134	3	2	263	1	0	0	0	0	1	0	0	0	9989	1290	45	4	502	4	MURC	9	103348134	Missense_Mutation	SNP	G	TCGA-B4-5843-01A-11D-1669-08	16760316	103348134	37865297	29	15852											
TNC	3371	broad.mit.edu	37	9	117803269	117803269	+	Silent	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:117803269G>A	ENST00000350763.4	-	19	5754	c.5343C>T	c.(5341-5343)gcC>gcT	p.A1781A	TNC_ENST00000535648.1_Silent_p.A1326A|TNC_ENST00000345230.3_Silent_p.A1144A|TNC_ENST00000537320.1_Silent_p.A1144A|TNC_ENST00000542877.1_Silent_p.A1418A|TNC_ENST00000341037.4_Silent_p.A1599A|TNC_ENST00000346706.3_Silent_p.A1235A|TNC_ENST00000340094.3_Silent_p.A1417A|TNC_ENST00000423613.2_Silent_p.A1508A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1781	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> T (in dbSNP:rs2274750).		bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCCTTCATGGCGATGATGC	0.507																																																0													197	166	177					9																	117803269		2203	4300	6503	SO:0001819	synonymous_variant	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5343C>T	9.37:g.117803269G>A			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357778	0.24598	.	.	ENSG00000041982	ENST00000544972	.	.	.	6.08	3.07	0.35406	.	.	.	.	.	T	0.45034	0.1322	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40478	-0.9561	4	.	.	.	.	2.5633	0.04777	0.221:0.1264:0.5084:0.1441	.	.	.	.	Y	344	.	.	H	-	1	0	TNC	116843090	0.991000	0.36638	0.999000	0.59377	0.879000	0.50718	0.276000	0.18716	1.571000	0.49722	0.655000	0.94253	CAT		0.507	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117803269	G	A	117803269	2	1	263	1	0	0	0	0	0	0	0	1	16275	1335	47	2		2	TNC	9	117803269	Silent	SNP	G	TCGA-B4-5843-01A-11D-1669-08	14455135	117803269	23410162	30	15853											
ADAMTSL2	9719	broad.mit.edu	37	9	136409649	136409649	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:136409649G>C	ENST00000354484.4	+	8	1297	c.740G>C	c.(739-741)aGg>aCg	p.R247T	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R247T|ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.R356T	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	247					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		ATTGTAGAGAGGAAGAAGTCC	0.567																																																0													154	139	144					9																	136409649		2203	4300	6503	SO:0001583	missense	9719			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.740G>C	9.37:g.136409649G>C	ENSP00000346478:p.Arg247Thr		B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137693	0.77775	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.51325	0.71;0.71;0.71	5.1	5.1	0.69264	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	T	0.59702	0.2213	L	0.55017	1.72	0.45172	D	0.998186	D	0.89917	1.0	D	0.77557	0.99	T	0.53975	-0.8362	10	0.20519	T	0.43	.	11.941	0.52901	0.0799:0.0:0.9201:0.0	.	247	Q86TH1	ATL2_HUMAN	T	247;356;247	ENSP00000346478:R247T;ENSP00000376781:R356T;ENSP00000376780:R247T	ENSP00000346478:R247T	R	+	2	0	ADAMTSL2	135399470	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.910000	0.87451	2.348000	0.79779	0.561000	0.74099	AGG		0.567	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		C	136409649	G	C	136409649	3	2	263	1	0	0	0	0	1	0	0	0	275	1000	35	4	766	4	ADAMTSL2	9	136409649	Missense_Mutation	SNP	G	TCGA-B4-5843-01A-11D-1669-08	18606380	136409649	4803782	31	15854											
ITIH2	3698	broad.mit.edu	37	10	7762870	7762870	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr10:7762870G>A	ENST00000358415.4	+	7	848	c.682G>A	c.(682-684)Gac>Aac	p.D228N	ITIH2_ENST00000379587.4_Missense_Mutation_p.D217N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	228					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCATGTTCCCGACACATTTGA	0.458																																																0													165	141	149					10																	7762870		2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.682G>A	10.37:g.7762870G>A	ENSP00000351190:p.Asp228Asn		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	g	3.665	-0.068767	0.07228	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.17213	4.9;2.29;4.9	5.11	3.14	0.36123	.	0.328596	0.34245	N	0.004121	T	0.08403	0.0209	N	0.19112	0.55	0.22127	N	0.999347	B	0.14438	0.01	B	0.06405	0.002	T	0.29088	-1.0023	10	0.19590	T	0.45	-25.7802	4.3654	0.11222	0.2536:0.3157:0.4307:0.0	.	228	P19823	ITIH2_HUMAN	N	228;203;217	ENSP00000351190:D228N;ENSP00000388826:D203N;ENSP00000368906:D217N	ENSP00000351190:D228N	D	+	1	0	ITIH2	7802876	0.914000	0.31030	0.995000	0.50966	0.010000	0.07245	1.398000	0.34554	1.154000	0.42482	-0.372000	0.07161	GAC		0.458	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		A	7762870	G	A	7762870	3	1	263	1	0	0	0	0	1	0	0	0	7906	1058	37	1	708	1	ITIH2	10	7762870	Missense_Mutation	SNP	G	TCGA-B4-5843-01A-11D-1669-08		7762870	127771877	32	15855											
ZNF485	220992	broad.mit.edu	37	10	44112775	44112775	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr10:44112775T>G	ENST00000361807.3	+	5	1478	c.1284T>G	c.(1282-1284)caT>caG	p.H428Q	ZNF485_ENST00000374435.3_Missense_Mutation_p.H428Q|ZNF485_ENST00000374437.2_Missense_Mutation_p.H337Q	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAGCAACATAAGAAAATTC	0.378																																																0													37	42	41					10																	44112775		2202	4300	6502	SO:0001583	missense	220992			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1284T>G	10.37:g.44112775T>G	ENSP00000354694:p.His428Gln		B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	T	7.404	0.633273	0.14322	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.60797	0.16;0.16;0.16	2.3	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77452	0.4132	H	0.96111	3.77	0.23913	N	0.996483	D	0.67145	0.996	P	0.60609	0.877	T	0.65183	-0.6230	9	0.87932	D	0	.	5.6742	0.17739	0.0:0.1496:0.0:0.8504	.	428	Q8NCK3	ZN485_HUMAN	Q	428;337;428	ENSP00000354694:H428Q;ENSP00000363560:H337Q;ENSP00000363558:H428Q	ENSP00000354694:H428Q	H	+	3	2	ZNF485	43432781	0.003000	0.15002	0.350000	0.25708	0.402000	0.30811	-0.112000	0.10791	0.312000	0.23038	0.260000	0.18958	CAT		0.378	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		G	44112775	T	G	44112775	3	3	263	1	0	0	0	0	1	0	0	0	17943	1403	49	5	1298	5	ZNF485	10	44112775	Missense_Mutation	SNP	T	TCGA-B4-5843-01A-11D-1669-08	36349905	44112775	91421972	33	15856											
NUMA1	4926	broad.mit.edu	37	11	71724426	71724426	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr11:71724426C>T	ENST00000393695.3	-	15	4454	c.4123G>A	c.(4123-4125)Gcc>Acc	p.A1375T	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A1375T|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCGGCAGCGGCCTGCTCGGCC	0.697			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													15	15	15					11																	71724426		2175	4248	6423	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4123G>A	11.37:g.71724426C>T	ENSP00000377298:p.Ala1375Thr			Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307507	0.60305	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.13089	2.63;2.62	5.14	4.2	0.49525	.	0.248587	0.28560	N	0.014908	T	0.08758	0.0217	N	0.14661	0.345	0.31348	N	0.682913	P;P;P;P	0.42692	0.493;0.787;0.557;0.493	B;B;B;B	0.39258	0.124;0.295;0.178;0.124	T	0.05818	-1.0862	10	0.33141	T	0.24	.	13.9027	0.63815	0.0:0.9242:0.0:0.0758	.	1381;859;1375;1375	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	T	1375;1375;938;344	ENSP00000351851:A1375T;ENSP00000377298:A1375T	ENSP00000351851:A1375T	A	-	1	0	NUMA1	71402074	0.009000	0.17119	0.993000	0.49108	0.619000	0.37552	0.136000	0.15974	2.665000	0.90641	0.655000	0.94253	GCC		0.697	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			T	71724426	C	T	71724426	3	4	263	1	0	0	0	0	1	0	0	0	10752	739	26	2	2276	2	NUMA1	11	71724426	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08		71724426	63282090	34	15857											
CCDC81	60494	broad.mit.edu	37	11	86125851	86125851	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr11:86125851A>T	ENST00000445632.2	+	12	1684	c.1412A>T	c.(1411-1413)aAa>aTa	p.K471I	CCDC81_ENST00000354755.1_Missense_Mutation_p.K381I|CCDC81_ENST00000278487.3_Missense_Mutation_p.K206I|CCDC81_ENST00000528728.1_Missense_Mutation_p.K206I	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	471										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CAAAGAGCGAAATTTTTAAAA	0.353																																																0													58	58	58					11																	86125851		2202	4299	6501	SO:0001583	missense	60494			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1412A>T	11.37:g.86125851A>T	ENSP00000415528:p.Lys471Ile		A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.102589	0.56183	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.86	4.73	0.59995	.	0.455883	0.24018	N	0.042303	T	0.52597	0.1744	L	0.59436	1.845	0.28549	N	0.911735	D;D;P	0.57257	0.979;0.971;0.911	P;P;P	0.58454	0.839;0.809;0.702	T	0.50415	-0.8831	9	.	.	.	-5.5339	9.5929	0.39557	0.9192:0.0:0.0808:0.0	.	206;471;381	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	I	381;206;471;206	ENSP00000346800:K381I;ENSP00000278487:K206I;ENSP00000415528:K471I;ENSP00000437165:K206I	.	K	+	2	0	CCDC81	85803499	0.991000	0.36638	0.972000	0.41901	0.118000	0.20060	1.367000	0.34204	1.037000	0.40024	0.528000	0.53228	AAA		0.353	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		T	86125851	A	T	86125851	3	4	263	1	0	0	0	0	1	0	0	0	2857	14	1	5	1458	5	CCDC81	11	86125851	Missense_Mutation	SNP	A	TCGA-B4-5843-01A-11D-1669-08	14401425	86125851	48880665	35	15858											
CNTN5	53942	broad.mit.edu	37	11	99932125	99932125	+	Splice_Site	SNP	A	A	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr11:99932125A>T	ENST00000524871.1	+	10	1452	c.1162A>T	c.(1162-1164)Acc>Tcc	p.T388S	CNTN5_ENST00000528682.1_Splice_Site_p.T388S|CNTN5_ENST00000279463.3_Splice_Site_p.T388S|CNTN5_ENST00000418526.2_Splice_Site_p.T314S|CNTN5_ENST00000527185.1_Splice_Site_p.T388S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	388					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAAGTATACAGTAAGTGTTT	0.358																																																0													46	45	45					11																	99932125		1848	4090	5938	SO:0001630	splice_region_variant	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1162+1A>T	11.37:g.99932125A>T			A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Splice_Site	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.711953	0.48517	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	5.43	5.43	0.79202	Immunoglobulin-like fold (1);	0.047237	0.85682	D	0.000000	T	0.64702	0.2622	N	0.04018	-0.295	0.58432	D	0.999996	B;B;B	0.17667	0.018;0.023;0.018	B;B;B	0.17722	0.016;0.01;0.019	T	0.64045	-0.6499	10	0.72032	D	0.01	.	14.9442	0.71016	1.0:0.0:0.0:0.0	.	388;314;388	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	S	388;388;388;314;388	ENSP00000433575:T388S;ENSP00000436185:T388S;ENSP00000435637:T388S;ENSP00000393229:T314S;ENSP00000279463:T388S	ENSP00000279463:T388S	T	+	1	0	CNTN5	99437335	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.284000	0.72652	2.184000	0.69523	0.477000	0.44152	ACC		0.358	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	Missense_Mutation	T	99932125	A	T	99932125	5	4	263	1	0	0	0	0	0	0	1	0	3646	202	7	5	1192	5	CNTN5	11	99932125	Splice_Site	SNP	A	TCGA-B4-5843-01A-11D-1669-08	13806274	99932125	35074391	36	15859											
TROAP	10024	broad.mit.edu	37	12	49722758	49722758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr12:49722758delC	ENST00000257909.3	+	9	1016	c.940delC	c.(940-942)cccfs	p.P314fs	TROAP_ENST00000547923.1_Frame_Shift_Del_p.P22fs|TROAP_ENST00000551245.1_Frame_Shift_Del_p.P314fs	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	314					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGTGGCCCAGCCCTTGCCTGG	0.602																																																0													69	67	68					12																	49722758		2203	4300	6503	SO:0001589	frameshift_variant	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.940delC	12.37:g.49722758delC	ENSP00000257909:p.Pro314fs		F8VSF9|Q6PJU7|Q8N5B2	Frame_Shift_Del	DEL	ENST00000257909.3	37	CCDS8784.1																																																																																				0.602	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		-	49722758	C	-	49722758	7	5	263	1	0	1	0	1	0	0	0	0	16580	739	26	0	1072	0	TROAP	12	49722758	Frame_Shift_Del	DEL	C	TCGA-B4-5843-01A-11D-1669-08		49722758	84129137	37	15860											
IKBIP	121457	broad.mit.edu	37	12	99019997	99019997	+	Intron	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr12:99019997G>A	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Missense_Mutation_p.S282F|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCTGAGAACAGAGTGAATAGC	0.378																																																0													94	92	92					12																	99019997		2203	4299	6502	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8076C>T	12.37:g.99019997G>A			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208085	0.58343	.	.	ENSG00000166130	ENST00000299157	T	0.54279	0.58	5.54	5.54	0.83059	.	0.840403	0.11160	N	0.593191	T	0.76572	0.4006	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.75499	-0.3296	9	0.87932	D	0	-4.3893	19.454	0.94880	0.0:0.0:1.0:0.0	.	282	Q70UQ0-4	.	F	282	ENSP00000299157:S282F	ENSP00000299157:S282F	S	-	2	0	IKBIP	97544128	1.000000	0.71417	0.550000	0.28217	0.331000	0.28603	8.271000	0.89883	2.596000	0.87737	0.655000	0.94253	TCT		0.378	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		A	99019997	G	A	99019997	1	1	263	0	1	0	0	0	0	0	0	0	7611	942	33	2		2	IKBIP	12	99019997	Intron	SNP	G	TCGA-B4-5843-01A-11D-1669-08	49297239	99019997	34831898	38	15861											
EXOSC8	11340	broad.mit.edu	37	13	37580102	37580102	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr13:37580102C>G	ENST00000389704.3	+	6	549	c.284C>G	c.(283-285)tCt>tGt	p.S95C	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	95					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		AGATTCCGGTCTGGACCTCCT	0.383																																																0													86	86	86					13																	37580102		2203	4300	6503	SO:0001583	missense	11340			AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"CBP-interacting protein 3", "Opa interacting protein 2"	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.284C>G	13.37:g.37580102C>G	ENSP00000374354:p.Ser95Cys		O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	37	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288643	0.80914	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.64438	-0.1	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.258350	0.48286	D	0.000199	T	0.70474	0.3228	M	0.65975	2.015	0.49299	D	0.99977	B;P	0.41498	0.431;0.752	P;B	0.45829	0.494;0.2	T	0.71938	-0.4441	10	0.66056	D	0.02	-8.7298	20.3539	0.98825	0.0:1.0:0.0:0.0	.	67;95	Q5JXM0;Q96B26	.;EXOS8_HUMAN	C	95;67	ENSP00000374354:S95C	ENSP00000369137:S67C	S	+	2	0	EXOSC8	36478102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.433000	0.80362	2.826000	0.97356	0.655000	0.94253	TCT		0.383	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503		G	37580102	C	G	37580102	3	3	263	1	0	0	0	0	1	0	0	0	5322	913	32	4	306	4	EXOSC8	13	37580102	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08		37580102	77589776	39	15862											
ZIC5	85416	broad.mit.edu	37	13	100617841	100617841	+	Silent	SNP	T	T	C	rs201281552		TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr13:100617841T>C	ENST00000267294.4	-	2	2015	c.1782A>G	c.(1780-1782)ccA>ccG	p.P594P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	594					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCGCCCACTGGAGTCCCCA	0.597																																																0													94	97	96					13																	100617841		2203	4300	6503	SO:0001819	synonymous_variant	85416			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1782A>G	13.37:g.100617841T>C			Q5VYB0	Silent	SNP	ENST00000267294.4	37	CCDS9494.2																																																																																				0.597	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		C	100617841	T	C	100617841	2	2	263	1	0	0	0	0	0	0	0	1	17687	1567	55	3		3	ZIC5	13	100617841	Silent	SNP	T	TCGA-B4-5843-01A-11D-1669-08	63037739	100617841	14552037	40	15863											
ADCY4	196883	broad.mit.edu	37	14	24793333	24793333	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr14:24793333C>T	ENST00000310677.4	-	17	2094	c.1981G>A	c.(1981-1983)Gga>Aga	p.G661R	ADCY4_ENST00000418030.2_Missense_Mutation_p.G661R|ADCY4_ENST00000554068.2_Missense_Mutation_p.G661R|ADCY4_ENST00000396747.3_Missense_Mutation_p.G354R	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	661					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATTCTCAGTCCTGGTCGTGTG	0.612																																																0													71	65	67					14																	24793333		2203	4300	6503	SO:0001583	missense	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1981G>A	14.37:g.24793333C>T	ENSP00000312126:p.Gly661Arg		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209424	0.58343	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.78246	-0.94;-0.94;-0.94;-1.16	4.93	4.93	0.64822	.	0.000000	0.45606	D	0.000355	T	0.70762	0.3261	L	0.41236	1.265	0.36235	D	0.852889	P	0.39696	0.683	B	0.43194	0.411	T	0.72171	-0.4371	10	0.23302	T	0.38	.	10.6809	0.45813	0.1906:0.8094:0.0:0.0	.	661	Q8NFM4	ADCY4_HUMAN	R	661;661;661;354	ENSP00000312126:G661R;ENSP00000452250:G661R;ENSP00000393177:G661R;ENSP00000379971:G354R	ENSP00000312126:G661R	G	-	1	0	ADCY4	23863173	0.017000	0.18338	0.936000	0.37596	0.979000	0.70002	0.522000	0.22909	2.569000	0.86673	0.563000	0.77884	GGA		0.612	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			T	24793333	C	T	24793333	3	4	263	1	0	0	0	0	1	0	0	0	296	690	24	2	1292	2	ADCY4	14	24793333	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08		24793333	82556207	41	15864											
SNW1	22938	broad.mit.edu	37	14	78221407	78221407	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr14:78221407G>T	ENST00000261531.7	-	2	133	c.71C>A	c.(70-72)gCa>gAa	p.A24E	SNW1_ENST00000555761.1_Missense_Mutation_p.A24E|SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	24					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTGGGATCTTGCCTTTTCTTC	0.458																																																0													71	62	65					14																	78221407		2203	4300	6503	SO:0001583	missense	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.71C>A	14.37:g.78221407G>T	ENSP00000261531:p.Ala24Glu		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591163	0.46214	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	6.04	6.04	0.98038	.	0.283792	0.41097	D	0.000957	T	0.20373	0.0490	N	0.02368	-0.58	0.40547	D	0.981081	P;B	0.35944	0.529;0.18	B;B	0.33454	0.164;0.017	T	0.30297	-0.9983	9	0.07325	T	0.83	.	13.7331	0.62802	0.0698:0.0:0.9302:0.0	.	24;24	G3V3A4;Q13573	.;SNW1_HUMAN	E	24	.	ENSP00000261531:A24E	A	-	2	0	SNW1	77291160	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.438000	0.59961	2.873000	0.98535	0.561000	0.74099	GCA		0.458	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		T	78221407	G	T	78221407	3	4	263	1	0	0	0	0	1	0	0	0	14885	1319	46	4	1591	4	SNW1	14	78221407	Missense_Mutation	SNP	G	TCGA-B4-5843-01A-11D-1669-08	53428074	78221407	29128133	42	15865											
AHNAK2	113146	broad.mit.edu	37	14	105415282	105415282	+	Missense_Mutation	SNP	C	C	T	rs552169427	byFrequency	TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr14:105415282C>T	ENST00000333244.5	-	7	6625	c.6506G>A	c.(6505-6507)gGc>gAc	p.G2169D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2169						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GATGGACTTGCCTGGGGCAGA	0.592													.|||	2	0.000399361	0.0015	0.0	5008	,	,		16867	0.0		0.0	False		,,,				2504	0.0															0													198	130	152					14																	105415282		1940	3978	5918	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6506G>A	14.37:g.105415282C>T	ENSP00000353114:p.Gly2169Asp		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	11.09	1.536949	0.27475	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	3.83	1.92	0.25849	.	.	.	.	.	T	0.04861	0.0131	M	0.89904	3.07	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.32508	-0.9904	9	0.12430	T	0.62	.	7.1906	0.25824	0.0:0.7348:0.1708:0.0944	.	2169	Q8IVF2	AHNK2_HUMAN	D	2169	ENSP00000353114:G2169D	ENSP00000353114:G2169D	G	-	2	0	AHNAK2	104486327	0.022000	0.18835	0.034000	0.17996	0.072000	0.16883	1.742000	0.38248	0.283000	0.22279	-0.699000	0.03677	GGC		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105415282	C	T	105415282	3	4	263	1	0	0	0	0	1	0	0	0	415	739	26	2	10885	2	AHNAK2	14	105415282	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08	27193875	105415282	1934258	43	15866											
CLK3	1198	broad.mit.edu	37	15	74922183	74922183	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr15:74922183G>A	ENST00000395066.3	+	13	2337	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K	CLK3_ENST00000345005.4_Missense_Mutation_p.E478K|CLK3_ENST00000352989.5_Missense_Mutation_p.E455K|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	626					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCTGACCCCTGAGGAGCGGTC	0.632																																					Ovarian(133;694 1754 28950 29027 31859)											0													26	22	24					15																	74922183		2195	4296	6491	SO:0001583	missense	1198			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1876G>A	15.37:g.74922183G>A	ENSP00000378505:p.Glu626Lys		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589933	0.46214	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.20332	2.08;2.08	5.22	5.22	0.72569	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000003	T	0.17450	0.0419	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.30914	0.124;0.115;0.271;0.3	B;B;B;B	0.23419	0.021;0.043;0.046;0.046	T	0.05468	-1.0883	10	0.15499	T	0.54	.	18.3608	0.90374	0.0:0.0:1.0:0.0	.	626;331;405;455	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	K	478;478;626;455	ENSP00000344112:E478K;ENSP00000323106:E455K	ENSP00000344112:E478K	E	+	1	0	CLK3	72709236	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.067000	0.57527	2.452000	0.82932	0.555000	0.69702	GAG		0.632	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			A	74922183	G	A	74922183	3	1	263	1	0	0	0	0	1	0	0	0	3540	1291	45	2	1926	2	CLK3	15	74922183	Missense_Mutation	SNP	G	TCGA-B4-5843-01A-11D-1669-08		74922183	27609209	44	15867											
ADAMTS7	11173	broad.mit.edu	37	15	79089102	79089102	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr15:79089102C>G	ENST00000388820.4	-	4	859	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	217					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						tcccaacgctcccgtcgAGAC	0.657																																																0													28	26	27					15																	79089102		2194	4287	6481	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.649G>C	15.37:g.79089102C>G	ENSP00000373472:p.Glu217Gln		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475475	0.84640	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.60424	0.19	5.49	5.49	0.81192	.	0.205398	0.39544	N	0.001328	T	0.55768	0.1941	L	0.56280	1.765	0.44042	D	0.996779	P;B;B	0.36587	0.559;0.047;0.139	B;B;B	0.36244	0.22;0.032;0.025	T	0.59337	-0.7473	10	0.52906	T	0.07	.	16.8508	0.85993	0.0:1.0:0.0:0.0	.	217;217;217	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	Q	217	ENSP00000373472:E217Q	ENSP00000373472:E217Q	E	-	1	0	ADAMTS7	76876157	0.998000	0.40836	0.547000	0.28179	0.543000	0.35085	3.092000	0.50207	2.582000	0.87167	0.462000	0.41574	GAG		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		G	79089102	C	G	79089102	3	3	263	1	0	0	0	0	1	0	0	0	271	864	30	4	4495	4	ADAMTS7	15	79089102	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08	4166919	79089102	23442290	45	15868											
ARHGDIG	398	broad.mit.edu	37	16	332800	332800	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr16:332800G>T	ENST00000219409.3	+	6	739	c.664G>T	c.(664-666)Gac>Tac	p.D222Y	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	222					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CATCTGCCAGGACTGGAAGGA	0.647											OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													29	27	28					16																	332800		2199	4297	6496	SO:0001583	missense	398			U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"RhoGDI gamma"	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.664G>T	16.37:g.332800G>T	ENSP00000219409:p.Asp222Tyr	587	Q4TT69|Q96S29	Missense_Mutation	SNP	ENST00000219409.3	37	CCDS10404.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368531	0.42003	.	.	ENSG00000242173	ENST00000219409;ENST00000414650	.	.	.	4.11	4.11	0.48088	Immunoglobulin E-set (1);	0.100861	0.40144	U	0.001165	D	0.83764	0.5325	M	0.90650	3.135	0.52099	D	0.99994	D	0.89917	1.0	D	0.80764	0.994	D	0.87326	0.2321	8	.	.	.	-9.2072	13.8384	0.63424	0.0:0.0:1.0:0.0	.	222	Q99819	GDIR3_HUMAN	Y	222;114	.	.	D	+	1	0	ARHGDIG	272801	1.000000	0.71417	0.990000	0.47175	0.142000	0.21351	7.311000	0.78958	1.847000	0.53656	0.563000	0.77884	GAC		0.647	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1			T	332800	G	T	332800	3	4	263	1	0	0	0	0	1	0	0	0	892	1174	41	4	686	4	ARHGDIG	16	332800	Missense_Mutation	SNP	G	TCGA-B4-5843-01A-11D-1669-08		332800	90021953	46	15869											
NCOR1	9611	broad.mit.edu	37	17	16075196	16075196	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr17:16075196A>T	ENST00000268712.3	-	4	613	c.356T>A	c.(355-357)tTt>tAt	p.F119Y	NCOR1_ENST00000395851.1_Missense_Mutation_p.F119Y|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	119	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACACGCTGAAAATGAGAATC	0.488																																																0													75	64	68					17																	16075196		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.356T>A	17.37:g.16075196A>T	ENSP00000268712:p.Phe119Tyr		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259473	0.59321	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.44482	0.92;1.52	5.81	5.81	0.92471	.	0.096122	0.64402	D	0.000001	T	0.41465	0.1160	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B;D	0.61697	0.001;0.001;0.035;0.001;0.069;0.99	B;B;B;B;B;P	0.56216	0.002;0.002;0.022;0.002;0.076;0.794	T	0.28776	-1.0033	10	0.34782	T	0.22	-7.8932	13.9077	0.63845	1.0:0.0:0.0:0.0	.	119;119;119;119;119;119	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	Y	119	ENSP00000268712:F119Y;ENSP00000379192:F119Y	ENSP00000268712:F119Y	F	-	2	0	NCOR1	16015921	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	5.587000	0.67510	2.210000	0.71456	0.533000	0.62120	TTT		0.488	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		T	16075196	A	T	16075196	3	4	263	1	0	0	0	0	1	0	0	0	10237	14	1	5	7138	5	NCOR1	17	16075196	Missense_Mutation	SNP	A	TCGA-B4-5843-01A-11D-1669-08		16075196	65120014	47	15870											
KIAA0100	9703	broad.mit.edu	37	17	26966605	26966605	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr17:26966605C>G	ENST00000528896.2	-	10	1145	c.1071G>C	c.(1069-1071)aaG>aaC	p.K357N	KIAA0100_ENST00000389003.3_Missense_Mutation_p.K214N|KIAA0100_ENST00000544884.1_Missense_Mutation_p.K214N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	357						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCACACTAGCCTTGAGGGAGT	0.473																																																0													143	126	132					17																	26966605		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1071G>C	17.37:g.26966605C>G	ENSP00000436773:p.Lys357Asn		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316529	0.40996	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.31247	1.75;1.5	5.78	0.442	0.16582	FMP27, N-terminal (1);	0.097007	0.64402	D	0.000001	T	0.15782	0.0380	N	0.17082	0.46	0.35568	D	0.805237	P;B	0.51537	0.946;0.029	B;B	0.42555	0.391;0.044	T	0.26608	-1.0098	10	0.16420	T	0.52	-1.0901	9.447	0.38703	0.0:0.6044:0.0:0.3955	.	357;357	F6XS94;Q14667	.;K0100_HUMAN	N	357;357;357;214	ENSP00000436773:K357N;ENSP00000446443:K214N	ENSP00000005905:K357N	K	-	3	2	KIAA0100	23990732	0.942000	0.31987	0.996000	0.52242	0.992000	0.81027	0.078000	0.14761	-0.095000	0.12351	0.591000	0.81541	AAG		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		G	26966605	C	G	26966605	3	3	263	1	0	0	0	0	1	0	0	0	8156	680	24	4	5756	4	KIAA0100	17	26966605	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08	10891409	26966605	54228605	48	15871											
STAT5B	6777	broad.mit.edu	37	17	40362270	40362270	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr17:40362270T>C	ENST00000293328.3	-	15	1993	c.1825A>G	c.(1825-1827)Aac>Gac	p.N609D		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	609	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCTGGCTTGTTAATGAGTAGG	0.498																																																0													141	122	129					17																	40362270		2203	4300	6503	SO:0001583	missense	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1825A>G	17.37:g.40362270T>C	ENSP00000293328:p.Asn609Asp		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190172	0.58017	.	.	ENSG00000173757	ENST00000293328	T	0.54479	0.57	5.19	5.19	0.71726	SH2 motif (4);	0.137571	0.64402	D	0.000003	T	0.36552	0.0971	N	0.11255	0.115	0.36747	D	0.882542	B	0.20368	0.044	B	0.28465	0.09	T	0.36768	-0.9734	10	0.25751	T	0.34	-3.0911	15.2232	0.73330	0.0:0.0:0.0:1.0	.	609	P51692	STA5B_HUMAN	D	609	ENSP00000293328:N609D	ENSP00000293328:N609D	N	-	1	0	STAT5B	37615796	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.721000	0.61951	2.184000	0.69523	0.533000	0.62120	AAC		0.498	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		C	40362270	T	C	40362270	3	2	263	1	0	0	0	0	1	0	0	0	15274	1754	61	3	558	3	STAT5B	17	40362270	Missense_Mutation	SNP	T	TCGA-B4-5843-01A-11D-1669-08	13395665	40362270	40832940	49	15872											
TXNDC2	84203	broad.mit.edu	37	18	9887808	9887808	+	Silent	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr18:9887808C>T	ENST00000306084.6	+	2	1531	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Silent_p.F377F	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	444	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CAATGGAGTTCCCGGAGGGGG	0.572																																																0													55	54	54					18																	9887808		2203	4300	6503	SO:0001819	synonymous_variant	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1332C>T	18.37:g.9887808C>T			A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	CCDS42414.1																																																																																				0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			T	9887808	C	T	9887808	2	4	263	1	0	0	0	0	0	0	0	1	16802	854	30	2		2	TXNDC2	18	9887808	Silent	SNP	C	TCGA-B4-5843-01A-11D-1669-08		9887808	68189440	50	15873											
C18orf22	79863	broad.mit.edu	37	18	77806138	77806138	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr18:77806138G>A	ENST00000306735.5	+	7	1153	c.1015G>A	c.(1015-1017)Gga>Aga	p.G339R	RP11-795F19.5_ENST00000564012.1_Intron|RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_3'UTR	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	339					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CCACAGCTGCGGAGCAAGCAG	0.582																																																0													52	43	46					18																	77806138		2203	4300	6503	SO:0001583	missense	79863			BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.1015G>A	18.37:g.77806138G>A	ENSP00000305696:p.Gly339Arg		Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	1.195	-0.634170	0.03584	.	.	ENSG00000101546	ENST00000306735	T	0.34667	1.35	2.68	-5.36	0.02689	.	21.516500	0.00166	N	0.000001	T	0.14013	0.0339	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19451	-1.0305	10	0.07644	T	0.81	.	3.931	0.09285	0.2406:0.0:0.438:0.3215	.	339	Q8N0V3	RBFA_HUMAN	R	339	ENSP00000305696:G339R	ENSP00000305696:G339R	G	+	1	0	RBFA	75907126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.415000	0.07106	-1.589000	0.01625	-2.032000	0.00423	GGA		0.582	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		A	77806138	G	A	77806138	3	1	263	1	0	0	0	0	1	0	0	0	1900	1117	39	1	1041	1	C18orf22	18	77806138	Missense_Mutation	SNP	G	TCGA-B4-5843-01A-11D-1669-08	67918330	77806138	271110	51	15874											
TBXA2R	6915	broad.mit.edu	37	19	3600521	3600521	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:3600521C>T	ENST00000375190.4	-	2	505	c.112G>A	c.(112-114)Ggc>Agc	p.G38S	TBXA2R_ENST00000589966.1_Missense_Mutation_p.G38S|TBXA2R_ENST00000411851.3_Missense_Mutation_p.G38S|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	38					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GAGGCCAGGCCCACCACGCAG	0.697																																																0													22	31	28					19																	3600521		2121	4206	6327	SO:0001583	missense	6915				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.112G>A	19.37:g.3600521C>T	ENSP00000364336:p.Gly38Ser		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482555	0.96307	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.48836	0.8;0.8	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63440	-0.6637	10	0.87932	D	0	-37.6265	16.2483	0.82460	0.0:1.0:0.0:0.0	.	38;38	P21731;E2QRJ2	TA2R_HUMAN;.	S	38	ENSP00000393333:G38S;ENSP00000364336:G38S	ENSP00000364336:G38S	G	-	1	0	TBXA2R	3551521	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.605000	0.82844	2.233000	0.73108	0.305000	0.20034	GGC		0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			T	3600521	C	T	3600521	3	4	263	1	0	0	0	0	1	0	0	0	15668	623	22	2	1172	2	TBXA2R	19	3600521	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08		3600521	55528462	52	15875											
CHERP	10523	broad.mit.edu	37	19	16636145	16636145	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:16636145C>T	ENST00000198939.6	-	10	1718	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.R550H					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CTGCATGAAGCGGGGCGGGAA	0.701																																																0													12	17	15					19																	16636145		1965	4100	6065	SO:0001583	missense	10523			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1682G>A	19.37:g.16636145C>T	ENSP00000198939:p.Arg561His			Missense_Mutation	SNP	ENST00000198939.6	37		.	.	.	.	.	.	.	.	.	.	C	15.87	2.960590	0.53400	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	D;D	0.86865	-2.18;-2.18	5.13	5.13	0.70059	.	.	.	.	.	T	0.75324	0.3834	L	0.29908	0.895	0.43632	D	0.996024	P	0.39181	0.663	B	0.28991	0.097	T	0.73512	-0.3959	9	0.19147	T	0.46	-20.338	11.1134	0.48246	0.0:0.9154:0.0:0.0846	.	550	Q8IWX8	CHERP_HUMAN	H	550;561	ENSP00000439856:R550H;ENSP00000198939:R561H	ENSP00000198939:R561H	R	-	2	0	CHERP	16497145	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	5.491000	0.66887	2.386000	0.81285	0.561000	0.74099	CGC		0.701	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		T	16636145	C	T	16636145	3	4	263	1	0	0	0	0	1	0	0	0	3338	768	27	1	1133	1	CHERP	19	16636145	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08	13035624	16636145	42492838	53	15876											
ACTN4	81	broad.mit.edu	37	19	39214837	39214837	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:39214837C>T	ENST00000252699.2	+	15	1809	c.1733C>T	c.(1732-1734)cCg>cTg	p.P578L	ACTN4_ENST00000424234.2_Missense_Mutation_p.P188L|ACTN4_ENST00000390009.3_Missense_Mutation_p.P359L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	578					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCACCCTGCCGGACGCCGAT	0.647																																					Colon(168;199 1940 10254 46213 46384)											0													56	58	58					19																	39214837		2203	4300	6503	SO:0001583	missense	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1733C>T	19.37:g.39214837C>T	ENSP00000252699:p.Pro578Leu		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376699	0.24857	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	3.75	3.75	0.43078	.	0.326765	0.28354	N	0.015645	T	0.77903	0.4200	M	0.81682	2.555	0.58432	D	0.999993	P	0.44690	0.841	P	0.48425	0.577	T	0.82959	-0.0198	10	0.72032	D	0.01	.	14.8549	0.70329	0.0:1.0:0.0:0.0	.	578	O43707	ACTN4_HUMAN	L	578;188;359;14	ENSP00000252699:P578L;ENSP00000411187:P188L;ENSP00000439497:P359L;ENSP00000398393:P14L	ENSP00000252699:P578L	P	+	2	0	ACTN4	43906677	0.998000	0.40836	0.912000	0.35992	0.040000	0.13550	3.857000	0.55972	2.106000	0.64143	0.561000	0.74099	CCG		0.647	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			T	39214837	C	T	39214837	3	4	263	1	0	0	0	0	1	0	0	0	207	652	23	1	1791	1	ACTN4	19	39214837	Missense_Mutation	SNP	C	TCGA-B4-5843-01A-11D-1669-08	22578692	39214837	19914146	54	15877											
CLC	1178	broad.mit.edu	37	19	40225079	40225079	+	Silent	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:40225079G>A	ENST00000221804.4	-	3	222	c.147C>T	c.(145-147)gaC>gaT	p.D49D		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	49	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		GGAAGACAATGTCTGATTCCT	0.512																																																0													203	175	185					19																	40225079		2203	4300	6503	SO:0001819	synonymous_variant	1178			L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"Lectins, galactoside-binding"	2014	protein-coding gene	gene with protein product	"eosinophil lysophospholipase", "lysolecithin acylhydrolase", "galectin 10", "lectin, galactoside-binding, soluble, 10"	153310	"Charcot-Leyden crystal protein"			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.147C>T	19.37:g.40225079G>A			C5HZ13|C5HZ14|Q0VDE3	Silent	SNP	ENST00000221804.4	37	CCDS33025.1																																																																																				0.512	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828		A	40225079	G	A	40225079	2	1	263	1	0	0	0	0	0	0	0	1	3458	1368	48	2		2	CLC	19	40225079	Silent	SNP	G	TCGA-B4-5843-01A-11D-1669-08	1010242	40225079	18903904	55	15878											
MED25	81857	broad.mit.edu	37	19	50335647	50335647	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:50335647T>C	ENST00000312865.6	+	13	1510	c.1457T>C	c.(1456-1458)cTc>cCc	p.L486P	MED25_ENST00000538643.1_Missense_Mutation_p.L273P	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	486	Interaction with CREBBP.|Interaction with VP16.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CTCAAAGGCCTCTACCGCATC	0.577																																					GBM(51;894 1657 37868)											0													53	38	43					19																	50335647		2203	4300	6503	SO:0001583	missense	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1457T>C	19.37:g.50335647T>C	ENSP00000326767:p.Leu486Pro		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644053	0.87859	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	D;D	0.90900	-2.75;-2.69	5.45	5.45	0.79879	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.000000	0.85682	D	0.000000	D	0.95007	0.8384	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95531	0.8603	10	0.87932	D	0	.	14.4951	0.67680	0.0:0.0:0.0:1.0	.	273;486;486	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	P	486;486;486;486;486;273;221	ENSP00000326767:L486P;ENSP00000437496:L273P	ENSP00000326767:L486P	L	+	2	0	MED25	55027459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.059000	0.76684	2.080000	0.62538	0.459000	0.35465	CTC		0.577	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		C	50335647	T	C	50335647	3	2	263	1	0	0	0	0	1	0	0	0	9445	1551	54	3	1507	3	MED25	19	50335647	Missense_Mutation	SNP	T	TCGA-B4-5843-01A-11D-1669-08	10110568	50335647	8793336	56	15879											
EIF6	10893	broad.mit.edu	37	20	33867388	33867388	+	IGR	SNP	G	G	A	rs546977597		TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr20:33867388G>A	ENST00000246186.6	+	0	4412				MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.R218W|MMP24-AS1_ENST00000435366.1_RNA|EIF6_ENST00000462894.1_5'Flank|EDEM2_ENST00000540582.1_5'Flank|EIF6_ENST00000374436.3_Missense_Mutation_p.R237W|EIF6_ENST00000374450.3_Missense_Mutation_p.R237W|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)						cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	AGGGAATCCCGCATGCTGGTG	0.527																																																0													228	208	215					20																	33867388		2203	4300	6503	SO:0001628	intergenic_variant	3692			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330		20.37:g.33867388G>A			B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223884	0.79576	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	5.47	4.46	0.54185	.	0.055206	0.64402	D	0.000002	T	0.81442	0.4823	M	0.91872	3.25	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.976	D	0.84460	0.0593	9	0.87932	D	0	-2.3698	11.6947	0.51536	0.0:0.0:0.6925:0.3075	.	218;237	B7ZBG9;P56537	.;IF6_HUMAN	W	237;218;237	.	ENSP00000363559:R237W	R	-	1	2	EIF6	33330802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.712000	0.61888	2.758000	0.94735	0.555000	0.69702	CGG		0.527	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		A	33867388	G	A	33867388	1	1	263	0	1	0	0	0	0	0	0	0	5047	1086	38	1		1	EIF6	20	33867388	IGR	SNP	G	TCGA-B4-5843-01A-11D-1669-08		33867388	29158132	57	15880											
SBF1	6305	broad.mit.edu	37	22	50904460	50904460	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr22:50904460A>G	ENST00000390679.3	-	9	1125	c.941T>C	c.(940-942)aTt>aCt	p.I314T	SBF1_ENST00000348911.6_Missense_Mutation_p.I315T|SBF1_ENST00000380817.3_Missense_Mutation_p.I314T			O95248	MTMR5_HUMAN	SET binding factor 1	314					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACACTCAGGAATGGTGACCGT	0.622																																																0													128	131	130					22																	50904460		2178	4277	6455	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.941T>C	22.37:g.50904460A>G	ENSP00000375097:p.Ile314Thr		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37		.	.	.	.	.	.	.	.	.	.	A	11.27	1.589651	0.28357	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.87179	-2.22;-2.22;-2.22	4.27	4.27	0.50696	.	0.380553	0.26190	N	0.025816	D	0.84410	0.5466	L	0.55213	1.73	0.50313	D	0.999863	B;B	0.22414	0.069;0.05	B;B	0.23852	0.034;0.049	D	0.83522	0.0086	10	0.72032	D	0.01	.	13.2217	0.59892	1.0:0.0:0.0:0.0	.	315;314	G5E933;O95248-4	.;.	T	314;315;325;324;314	ENSP00000370196:I314T;ENSP00000252027:I315T;ENSP00000375097:I314T	ENSP00000336522:I324T	I	-	2	0	SBF1	49251326	0.994000	0.37717	0.761000	0.31378	0.021000	0.10359	5.528000	0.67129	1.808000	0.52836	0.374000	0.22700	ATT		0.622	SBF1-201	KNOWN	basic	protein_coding	protein_coding				G	50904460	A	G	50904460	3	3	263	1	0	0	0	0	1	0	0	0	13864	101	4	3	4872	3	SBF1	22	50904460	Missense_Mutation	SNP	A	TCGA-B4-5843-01A-11D-1669-08		50904460	400106	58	15881											
MTOR	2475	broad.mit.edu	37	1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C	rs587777893		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:11188164G>C	ENST00000361445.4	-	43	6006	c.5930C>G	c.(5929-5931)aCa>aGa	p.T1977R	MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1977	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.T1977R(2)|p.T1977K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGAAGCCACTGTCAGTGGGTA	0.478																																																3	Substitution - Missense(3)	kidney(2)|prostate(1)											117	121	120					1																	11188164		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5930C>G	1.37:g.11188164G>C	ENSP00000354558:p.Thr1977Arg		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659586	0.88154	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.81415	-1.49;-1.49	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.92373	0.5907	10	0.87932	D	0	-18.9382	20.063	0.97692	0.0:0.0:1.0:0.0	.	1977	P42345	MTOR_HUMAN	R	1977;182	ENSP00000354558:T1977R;ENSP00000366034:T182R	ENSP00000354558:T1977R	T	-	2	0	MTOR	11110751	1.000000	0.71417	0.968000	0.41197	0.902000	0.53008	9.188000	0.94921	2.735000	0.93741	0.655000	0.94253	ACA		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		C	11188164	G	C	11188164	3	2	264	1	0	0	0	0	1	0	0	0	9956	1377	48	4	1783	4	MTOR	1	11188164	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08		11188164	238062457	1	15882											
TTC39A	22996	broad.mit.edu	37	1	51755792	51755792	+	Splice_Site	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:51755792C>A	ENST00000447632.2	-	16	1535		c.e16-1		TTC39A_ENST00000451380.1_Splice_Site|TTC39A_ENST00000534098.1_Splice_Site|TTC39A_ENST00000262675.7_Splice_Site|TTC39A_ENST00000530004.1_Splice_Site|TTC39A_ENST00000413473.2_Splice_Site|TTC39A_ENST00000371750.5_Splice_Site			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A									p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TACTCGTTCTCTGAAAATAGG	0.473																																																2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											44	41	42					1																	51755792		1877	4122	5999	SO:0001630	splice_region_variant	22996			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1487-1G>T	1.37:g.51755792C>A			B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Splice_Site	SNP	ENST00000447632.2	37		.	.	.	.	.	.	.	.	.	.	C	23.4	4.410887	0.83340	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000525906	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0004	0.92830	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC39A	51528380	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.005000	0.63972	2.837000	0.97791	0.591000	0.81541	.		0.473	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2		Intron	A	51755792	C	A	51755792	5	1	264	1	0	0	0	0	0	0	1	0	16712	927	32	4	367	4	TTC39A	1	51755792	Splice_Site	SNP	C	TCGA-B4-5844-01A-11D-1669-08	40567628	51755792	197494829	2	15883											
ZCCHC11	23318	broad.mit.edu	37	1	52912272	52912272	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:52912272delG	ENST00000371544.3	-	21	3765	c.3503delC	c.(3502-3504)acafs	p.T1168fs	ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.T1168fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1168					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAGTTCTTCTGTTTTATCAAA	0.269																																																0													32	35	34					1																	52912272		2198	4285	6483	SO:0001589	frameshift_variant	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3503delC	1.37:g.52912272delG	ENSP00000360599:p.Thr1168fs		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Del	DEL	ENST00000371544.3	37	CCDS30716.1																																																																																				0.269	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		-	52912272	G	-	52912272	7	5	264	1	0	1	0	1	0	0	0	0	17585	1377	48	0	1474	0	ZCCHC11	1	52912272	Frame_Shift_Del	DEL	G	TCGA-B4-5844-01A-11D-1669-08	1156480	52912272	196338349	3	15884											
ZNHIT6	54680	broad.mit.edu	37	1	86146557	86146557	+	Silent	SNP	G	G	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:86146557G>C	ENST00000370574.3	-	6	1183	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	ZNHIT6_ENST00000431532.2_Silent_p.L311L			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	350					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GAGGAAACTGGAGCTTCACAT	0.318																																																0													87	86	86					1																	86146557		2203	4298	6501	SO:0001819	synonymous_variant	54680			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1050C>G	1.37:g.86146557G>C			B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Silent	SNP	ENST00000370574.3	37	CCDS707.1																																																																																				0.318	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		C	86146557	G	C	86146557	2	2	264	1	0	0	0	0	0	0	0	1	18214	1161	41	4		4	ZNHIT6	1	86146557	Silent	SNP	G	TCGA-B4-5844-01A-11D-1669-08	33234285	86146557	163104064	4	15885											
DPYD	1806	broad.mit.edu	37	1	98348868	98348868	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:98348868C>G	ENST00000370192.3	-	2	202	c.102G>C	c.(100-102)aaG>aaC	p.K34N	DPYD_ENST00000306031.5_Missense_Mutation_p.K34N|DPYD_ENST00000423006.2_Intron	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	34					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGTCTAATTTCTTGGCCGAAG	0.368																																																0													134	127	129					1																	98348868		2203	4300	6503	SO:0001583	missense	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.102G>C	1.37:g.98348868C>G	ENSP00000359211:p.Lys34Asn		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500081	0.64298	.	.	ENSG00000188641	ENST00000370192;ENST00000306031	D;D	0.82526	-1.62;-1.62	5.84	3.92	0.45320	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.062767	0.64402	D	0.000012	T	0.76256	0.3962	L	0.51422	1.61	0.80722	D	1	P;P	0.51351	0.944;0.747	P;B	0.53062	0.717;0.33	T	0.77046	-0.2733	10	0.54805	T	0.06	-16.4825	7.1026	0.25346	0.0:0.7062:0.0:0.2938	.	34;34	E9PFN1;Q12882	.;DPYD_HUMAN	N	34	ENSP00000359211:K34N;ENSP00000307107:K34N	ENSP00000307107:K34N	K	-	3	2	DPYD	98121456	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.906000	0.28517	0.740000	0.32651	0.557000	0.71058	AAG		0.368	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		G	98348868	C	G	98348868	3	3	264	1	0	0	0	0	1	0	0	0	4747	912	32	4	3106	4	DPYD	1	98348868	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08	12202311	98348868	150901753	5	15886											
SV2A	9900	broad.mit.edu	37	1	149877444	149877444	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:149877444G>A	ENST00000369146.3	-	12	2523	c.2033C>T	c.(2032-2034)cCc>cTc	p.P678L	SV2A_ENST00000369145.1_Missense_Mutation_p.P678L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	678					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTTGTCTGAGGGGTAGAGTTC	0.567																																																0													205	191	196					1																	149877444		2203	4300	6503	SO:0001583	missense	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.2033C>T	1.37:g.149877444G>A	ENSP00000358142:p.Pro678Leu		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514700	0.85389	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	D;D	0.85702	-2.02;-2.02	3.89	3.89	0.44902	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.955102	0.08726	N	0.902715	D	0.92681	0.7674	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90866	0.4742	10	0.87932	D	0	-13.1257	13.3942	0.60840	0.0:0.0:1.0:0.0	.	130;678	B4E000;Q7L0J3	.;SV2A_HUMAN	L	678	ENSP00000358142:P678L;ENSP00000358141:P678L	ENSP00000358141:P678L	P	-	2	0	SV2A	148144068	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.354000	0.97083	2.001000	0.58596	0.297000	0.19635	CCC		0.567	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			A	149877444	G	A	149877444	3	1	264	1	0	0	0	0	1	0	0	0	15422	1232	43	2	203	2	SV2A	1	149877444	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	51528576	149877444	99373177	6	15887											
C1orf92	149499	broad.mit.edu	37	1	156900360	156900360	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:156900360G>A	ENST00000337428.7	+	12	1434	c.1280G>A	c.(1279-1281)gGg>gAg	p.G427E	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	427										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AGGGCAAAAGGGATCAAGATC	0.592																																																0													45	49	48					1																	156900360		2007	4163	6170	SO:0001583	missense	149499			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1280G>A	1.37:g.156900360G>A	ENSP00000336661:p.Gly427Glu		Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345982	0.41599	.	.	ENSG00000160838	ENST00000337428	T	0.30182	1.54	5.43	4.5	0.54988	.	0.107611	0.42053	D	0.000772	T	0.27027	0.0662	L	0.29908	0.895	0.27559	N	0.95024	P;D	0.67145	0.931;0.996	B;D	0.65323	0.444;0.934	T	0.09250	-1.0683	10	0.72032	D	0.01	-27.2603	13.1352	0.59405	0.0:0.1673:0.8327:0.0	.	427;212	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	E	427	ENSP00000336661:G427E	ENSP00000336661:G427E	G	+	2	0	LRRC71	155166984	1.000000	0.71417	0.177000	0.23020	0.010000	0.07245	3.698000	0.54771	1.484000	0.48361	0.650000	0.86243	GGG		0.592	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		A	156900360	G	A	156900360	3	1	264	1	0	0	0	0	1	0	0	0	2071	1232	43	2	1326	2	C1orf92	1	156900360	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	7022916	156900360	92350261	7	15888											
RAB4A	5867	broad.mit.edu	37	1	229434801	229434801	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:229434801C>G	ENST00000366690.4	+	6	731	c.523C>G	c.(523-525)Ctt>Gtt	p.L175V	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	175					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				AAGAAAAATACTTAACAAAAT	0.348																																					Esophageal Squamous(11;250 603 9619 16563)											0													100	95	97					1																	229434801		2203	4300	6503	SO:0001583	missense	5867			BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"RAB, member RAS oncogene"	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.523C>G	1.37:g.229434801C>G	ENSP00000355651:p.Leu175Val		Q5T7P7|Q9BQ44	Missense_Mutation	SNP	ENST00000366690.4	37	CCDS31050.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415075	0.62511	.	.	ENSG00000168118	ENST00000366690	T	0.80653	-1.4	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.79724	0.4495	L	0.48218	1.51	0.80722	D	1	B	0.16802	0.019	B	0.28465	0.09	T	0.75966	-0.3131	10	0.72032	D	0.01	.	19.5035	0.95105	0.0:1.0:0.0:0.0	.	170	P20338	RAB4A_HUMAN	V	175	ENSP00000355651:L175V	ENSP00000355651:L175V	L	+	1	0	RAB4A	227501424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.007000	0.70731	2.674000	0.91012	0.655000	0.94253	CTT		0.348	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		G	229434801	C	G	229434801	3	3	264	1	0	0	0	0	1	0	0	0	12952	565	20	4	545	4	RAB4A	1	229434801	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08	72534441	229434801	19815820	8	15889											
CEBPZ	10153	broad.mit.edu	37	2	37450342	37450342	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr2:37450342C>T	ENST00000234170.5	-	3	1997	c.1852G>A	c.(1852-1854)Ggt>Agt	p.G618S		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	618					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CTTCTTAAACCTGGTTTTGCT	0.348																																																0													136	133	134					2																	37450342		2203	4300	6503	SO:0001583	missense	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1852G>A	2.37:g.37450342C>T	ENSP00000234170:p.Gly618Ser		Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230223	0.58777	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.19938	2.11	5.59	3.8	0.43715	Armadillo-type fold (1);CCAAT-binding factor (1);	0.453162	0.27019	N	0.021323	T	0.21427	0.0516	L	0.43152	1.355	0.41330	D	0.987239	P	0.37548	0.599	B	0.39706	0.307	T	0.02477	-1.1153	10	0.54805	T	0.06	.	12.3045	0.54893	0.0:0.8628:0.0:0.1372	.	618	Q03701	CEBPZ_HUMAN	S	618	ENSP00000234170:G618S	ENSP00000234170:G618S	G	-	1	0	CEBPZ	37303846	0.953000	0.32496	0.952000	0.39060	0.975000	0.68041	2.841000	0.48223	0.841000	0.35020	0.561000	0.74099	GGT		0.348	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		T	37450342	C	T	37450342	3	4	264	1	0	0	0	0	1	0	0	0	3206	681	24	2	1368	2	CEBPZ	2	37450342	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08		37450342	205749031	9	15890											
LRP2	4036	broad.mit.edu	37	2	169993944	169993944	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr2:169993944G>C	ENST00000263816.3	-	76	13863	c.13578C>G	c.(13576-13578)taC>taG	p.Y4526*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4526					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CTCTGGCTGAGTACATTGGGT	0.438																																																0													193	181	185					2																	169993944		2203	4300	6503	SO:0001587	stop_gained	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13578C>G	2.37:g.169993944G>C	ENSP00000263816:p.Tyr4526*		O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	55	23.889499	0.99957	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.44	-4.07	0.03975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.46654	D	0.999143	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8071	0.57619	0.479:0.0:0.521:0.0	.	.	.	.	X	4526	.	ENSP00000263816:Y4526X	Y	-	3	2	LRP2	169702190	0.005000	0.15991	0.004000	0.12327	0.321000	0.28281	0.091000	0.15046	-1.027000	0.03325	-0.499000	0.04595	TAC		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	169993944	G	C	169993944	4	2	264	1	0	0	0	0	0	1	0	0	8958	1024	36	4	405	4	LRP2	2	169993944	Nonsense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	132543602	169993944	73205429	10	15891											
PBRM1	55193	broad.mit.edu	37	3	52692214	52692214	+	Splice_Site	DEL	C	C	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr3:52692214delC	ENST00000296302.7	-	5	647		c.e5+1		PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCATCACTTACCACTTTAGAA	0.358			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													90	90	90					3																	52692214		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.645+1G>-	3.37:g.52692214delC			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	DEL	ENST00000296302.7	37																																																																																					0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	-	52692214	C	-	52692214	8	5	264	1	0	1	0	1	0	0	1	0	11493	521	18	0	4358	0	PBRM1	3	52692214	Splice_Site	DEL	C	TCGA-B4-5844-01A-11D-1669-08		52692214	145330216	11	15892											
KIAA1257	57501	broad.mit.edu	37	3	128694691	128694691	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr3:128694691T>A	ENST00000265068.5	-	7	1119	c.952A>T	c.(952-954)Atc>Ttc	p.I318F	KIAA1257_ENST00000515659.1_Missense_Mutation_p.I206F|KIAA1257_ENST00000511438.1_Missense_Mutation_p.I318F|KIAA1257_ENST00000510149.1_5'Flank	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	318										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AATTCCTTGATCTCCATCATG	0.338																																																0													111	98	102					3																	128694691		1848	4106	5954	SO:0001583	missense	57501			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.952A>T	3.37:g.128694691T>A	ENSP00000265068:p.Ile318Phe		Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603400	0.28534	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.38	0.836	0.18891	.	0.577624	0.15676	N	0.250137	T	0.21590	0.0520	N	0.19112	0.55	0.22292	N	0.999227	D;D	0.54047	0.964;0.964	P;P	0.49361	0.608;0.608	T	0.08371	-1.0725	9	0.54805	T	0.06	-9.8261	3.5366	0.07796	0.0:0.1257:0.2306:0.6437	.	318;318	Q9ULG3;D6RH05	K1257_HUMAN;.	F	318;318;206	.	ENSP00000265068:I318F	I	-	1	0	KIAA1257	130177381	0.070000	0.21116	0.559000	0.28332	0.164000	0.22412	0.267000	0.18552	0.174000	0.19809	0.402000	0.26972	ATC		0.338	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		A	128694691	T	A	128694691	3	1	264	1	0	0	0	0	1	0	0	0	8220	1435	50	5	285	5	KIAA1257	3	128694691	Missense_Mutation	SNP	T	TCGA-B4-5844-01A-11D-1669-08	76002477	128694691	69327739	12	15893											
GPR149	344758	broad.mit.edu	37	3	154147212	154147212	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr3:154147212T>C	ENST00000389740.2	-	1	292	c.193A>G	c.(193-195)Act>Gct	p.T65A		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	65					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GACACAACAGTTCTGTTCTGC	0.463																																																0													89	90	90					3																	154147212		2027	4185	6212	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.193A>G	3.37:g.154147212T>C	ENSP00000374390:p.Thr65Ala			Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287353	0.59976	.	.	ENSG00000174948	ENST00000389740	T	0.45668	0.89	5.91	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.110762	0.64402	D	0.000008	T	0.50786	0.1636	M	0.63843	1.955	0.29937	N	0.821401	D	0.58970	0.984	P	0.56612	0.802	T	0.56601	-0.7952	10	0.87932	D	0	-7.022	6.1513	0.20313	0.2431:0.0678:0.0:0.689	.	65	Q86SP6	GP149_HUMAN	A	65	ENSP00000374390:T65A	ENSP00000374390:T65A	T	-	1	0	GPR149	155629906	1.000000	0.71417	0.032000	0.17829	0.970000	0.65996	4.415000	0.59809	1.064000	0.40671	0.533000	0.62120	ACT		0.463	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		C	154147212	T	C	154147212	3	2	264	1	0	0	0	0	1	0	0	0	6656	1725	60	3	2018	3	GPR149	3	154147212	Missense_Mutation	SNP	T	TCGA-B4-5844-01A-11D-1669-08	25452521	154147212	43875218	13	15894											
PDCD10	11235	broad.mit.edu	37	3	167414854	167414854	+	Frame_Shift_Del	DEL	T	T	-	rs370184081		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr3:167414854delT	ENST00000392750.2	-	5	628	c.211delA	c.(211-213)agcfs	p.S71fs	PDCD10_ENST00000497056.2_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000470131.1_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000492396.1_Frame_Shift_Del_p.S8fs|PDCD10_ENST00000487947.2_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000471885.1_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000461494.1_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000473645.2_Frame_Shift_Del_p.S71fs	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	71					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.S71fs*18(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						ACTTCCACGCTTTTTTTCTCT	0.343																																																1	Deletion - Frameshift(1)	lung(1)											108	113	112					3																	167414854		2203	4300	6503	SO:0001589	frameshift_variant	11235			AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"cerebral cavernous malformations 3"	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.211delA	3.37:g.167414854delT	ENSP00000376506:p.Ser71fs		A8K515|D3DNN5|O14811	Frame_Shift_Del	DEL	ENST00000392750.2	37	CCDS3202.1																																																																																				0.343	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		-	167414854	T	-	167414854	7	5	264	1	0	1	0	1	0	0	0	0	11618	1609	56	0	447	0	PDCD10	3	167414854	Frame_Shift_Del	DEL	T	TCGA-B4-5844-01A-11D-1669-08	13267642	167414854	30607576	14	15895											
SLC34A2	10568	broad.mit.edu	37	4	25664146	25664146	+	Silent	SNP	A	A	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:25664146A>G	ENST00000382051.3	+	2	74	c.24A>G	c.(22-24)ggA>ggG	p.G8G	SLC34A2_ENST00000504570.1_Silent_p.G8G|SLC34A2_ENST00000503434.1_Silent_p.G8G	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	8					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTGAATTGGGAGATGCCCAGC	0.532			T	ROS1	NSCLC																																		Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0													49	49	49					4																	25664146		2203	4300	6503	SO:0001819	synonymous_variant	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.24A>G	4.37:g.25664146A>G			A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	CCDS3435.1																																																																																				0.532	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		G	25664146	A	G	25664146	2	3	264	1	0	0	0	0	0	0	0	1	14574	291	11	3		3	SLC34A2	4	25664146	Silent	SNP	A	TCGA-B4-5844-01A-11D-1669-08		25664146	165490130	15	15896											
INTS12	57117	broad.mit.edu	37	4	106603970	106603970	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:106603970A>C	ENST00000451321.2	-	7	1788	c.1309T>G	c.(1309-1311)Tca>Gca	p.S437A	INTS12_ENST00000340139.5_Missense_Mutation_p.S437A|INTS12_ENST00000394735.1_Missense_Mutation_p.S437A	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	437	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GATTCTTGTGAAGTTGGGCCT	0.438																																																0													218	215	216					4																	106603970		2203	4300	6503	SO:0001583	missense	57117				CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"Zinc fingers, PHD-type"	25067	protein-coding gene	gene with protein product	"hypothetical nuclear factor SBBI22"	611355	"PHD finger protein 22"	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.1309T>G	4.37:g.106603970A>C	ENSP00000415433:p.Ser437Ala		B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134695	0.77662	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	T;T;T	0.55760	0.5;0.5;0.5	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	L	0.34521	1.04	0.58432	D	0.999994	D	0.64830	0.994	D	0.70716	0.97	T	0.65788	-0.6083	10	0.66056	D	0.02	-15.3553	15.2762	0.73742	1.0:0.0:0.0:0.0	.	437	Q96CB8	INT12_HUMAN	A	437	ENSP00000378221:S437A;ENSP00000340737:S437A;ENSP00000415433:S437A	ENSP00000340737:S437A	S	-	1	0	INTS12	106823419	1.000000	0.71417	0.528000	0.27938	0.614000	0.37383	7.256000	0.78350	2.068000	0.61886	0.460000	0.39030	TCA		0.438	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		C	106603970	A	C	106603970	3	2	264	1	0	0	0	0	1	0	0	0	7779	246	9	5	83	5	INTS12	4	106603970	Missense_Mutation	SNP	A	TCGA-B4-5844-01A-11D-1669-08	80939824	106603970	84550306	16	15897											
SEC24B	10427	broad.mit.edu	37	4	110452560	110452560	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:110452560C>A	ENST00000265175.5	+	20	3327	c.3272C>A	c.(3271-3273)aCa>aAa	p.T1091K	SEC24B_ENST00000399100.2_Missense_Mutation_p.T1056K|SEC24B_ENST00000504968.2_Missense_Mutation_p.T1121K	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1091					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGAACGGGTACAAGCACACGG	0.343																																																0													107	102	103					4																	110452560		1875	4122	5997	SO:0001583	missense	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3272C>A	4.37:g.110452560C>A	ENSP00000265175:p.Thr1091Lys		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992162	0.74703	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.89485	-2.52;-2.52;-2.52	5.48	5.48	0.80851	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.89136	0.6629	M	0.74467	2.265	0.80722	D	1	B;B;B;P;P	0.37015	0.008;0.404;0.027;0.523;0.578	B;B;B;B;B	0.34038	0.008;0.062;0.026;0.108;0.174	D	0.90007	0.4118	10	0.72032	D	0.01	-21.9992	19.351	0.94387	0.0:1.0:0.0:0.0	.	1005;690;1121;1056;1091	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	K	1121;1056;1091	ENSP00000428564:T1121K;ENSP00000382051:T1056K;ENSP00000265175:T1091K	ENSP00000265175:T1091K	T	+	2	0	SEC24B	110672009	0.994000	0.37717	0.987000	0.45799	0.990000	0.78478	3.177000	0.50871	2.579000	0.87056	0.650000	0.86243	ACA		0.343	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			A	110452560	C	A	110452560	3	1	264	1	0	0	0	0	1	0	0	0	14001	478	17	4	3350	4	SEC24B	4	110452560	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08	3848590	110452560	80701716	17	15898											
PITX2	5308	broad.mit.edu	37	4	111539370	111539370	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:111539370T>C	ENST00000354925.2	-	7	2570	c.865A>G	c.(865-867)Aag>Gag	p.K289E	PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.K243E|PITX2_ENST00000394598.2_Missense_Mutation_p.K289E|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000306732.3_Missense_Mutation_p.K296E	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	289					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GAGTGCTGCTTTGCTTTCAGT	0.637																																																0													63	57	59					4																	111539370		2203	4300	6503	SO:0001583	missense	5308			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.865A>G	4.37:g.111539370T>C	ENSP00000347004:p.Lys289Glu		A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.225104	0.79576	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85;-4.85	5.68	5.68	0.88126	Paired-like homeodomain protein, OAR (2);	0.000000	0.85682	D	0.000000	D	0.98883	0.9622	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	0.999;0.974;0.999;1.0	D;D;D;D	0.91635	0.999;0.953;0.999;0.999	D	0.99855	1.1076	10	0.87932	D	0	.	15.9332	0.79683	0.0:0.0:0.0:1.0	.	243;243;289;296	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	E	296;289;243;289;289	ENSP00000304169:K296E;ENSP00000378097:K289E;ENSP00000347192:K243E;ENSP00000347004:K289E;ENSP00000421454:K289E	ENSP00000304169:K296E	K	-	1	0	PITX2	111758819	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	8.040000	0.89188	2.172000	0.68678	0.533000	0.62120	AAG		0.637	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			C	111539370	T	C	111539370	3	2	264	1	0	0	0	0	1	0	0	0	11957	1850	64	3	92	3	PITX2	4	111539370	Missense_Mutation	SNP	T	TCGA-B4-5844-01A-11D-1669-08	1086810	111539370	79614906	18	15899											
PRSS12	8492	broad.mit.edu	37	4	119273399	119273399	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:119273399G>C	ENST00000296498.3	-	1	759	c.477C>G	c.(475-477)gaC>gaG	p.D159E		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	159	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGTAGCCCCAGTCCACCTTGC	0.687																																																0													17	20	19					4																	119273399		2202	4299	6501	SO:0001583	missense	8492			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.477C>G	4.37:g.119273399G>C	ENSP00000296498:p.Asp159Glu		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732612	0.89482	.	.	ENSG00000164099	ENST00000296498	T	0.64991	-0.13	4.33	4.33	0.51752	Kringle (4);Kringle-like fold (1);	0.113372	0.56097	D	0.000028	T	0.63896	0.2550	L	0.33245	0.995	0.48395	D	0.999647	D	0.61697	0.99	P	0.57846	0.828	T	0.60875	-0.7176	10	0.30854	T	0.27	.	14.2062	0.65737	0.0:0.0:1.0:0.0	.	159	P56730	NETR_HUMAN	E	159	ENSP00000296498:D159E	ENSP00000296498:D159E	D	-	3	2	PRSS12	119492847	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.390000	0.66261	2.399000	0.81585	0.467000	0.42956	GAC		0.687	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			C	119273399	G	C	119273399	3	2	264	1	0	0	0	0	1	0	0	0	12620	1020	36	4	2202	4	PRSS12	4	119273399	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	7734029	119273399	71880877	19	15900											
KIAA1109	84162	broad.mit.edu	37	4	123270439	123270439	+	Silent	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:123270439G>A	ENST00000264501.4	+	78	13780	c.13407G>A	c.(13405-13407)ggG>ggA	p.G4469G	KIAA1109_ENST00000388738.3_Silent_p.G4469G			Q2LD37	K1109_HUMAN	KIAA1109	4469					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGTTGGAGGGACCATAGATG	0.383																																																0													151	161	158					4																	123270439		1905	4112	6017	SO:0001819	synonymous_variant	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13407G>A	4.37:g.123270439G>A			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	6.858	0.527696	0.13127	.	.	ENSG00000138688	ENST00000306802	T	0.69175	-0.38	5.99	-0.593	0.11667	.	0.050480	0.85682	D	0.000000	T	0.61173	0.2326	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57705	-0.7765	7	0.87932	D	0	.	0.3137	0.00292	0.3129:0.1938:0.2937:0.1996	.	.	.	.	E	845	ENSP00000304374:G845E	ENSP00000304374:G845E	G	+	2	0	KIAA1109	123489889	0.995000	0.38212	0.996000	0.52242	0.987000	0.75469	0.340000	0.19892	-0.062000	0.13088	-0.886000	0.02939	GGA		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		A	123270439	G	A	123270439	2	1	264	1	0	0	0	0	0	0	0	1	8210	1161	41	2		2	KIAA1109	4	123270439	Silent	SNP	G	TCGA-B4-5844-01A-11D-1669-08	3997040	123270439	67883837	20	15901											
PCDHGA2	56113	broad.mit.edu	37	5	140720917	140720917	+	Silent	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr5:140720917G>A	ENST00000394576.2	+	1	2379	c.2379G>A	c.(2377-2379)gcG>gcA	p.A793A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	793					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTATCAGCGCCTCAATCTC	0.453																																																0													76	82	80					5																	140720917		2203	4300	6503	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2379G>A	5.37:g.140720917G>A			Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	CCDS47289.1																																																																																				0.453	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		A	140720917	G	A	140720917	2	1	264	1	0	0	0	0	0	0	0	1	11556	1074	38	1		1	PCDHGA2	5	140720917	Silent	SNP	G	TCGA-B4-5844-01A-11D-1669-08		140720917	40194343	21	15902											
ZNF354B	117608	broad.mit.edu	37	5	178310052	178310052	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr5:178310052A>C	ENST00000322434.3	+	5	825	c.599A>C	c.(598-600)aAt>aCt	p.N200T	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAATTCAAATTTACTTAAC	0.318																																																0													50	53	52					5																	178310052		2201	4292	6493	SO:0001583	missense	117608			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.599A>C	5.37:g.178310052A>C	ENSP00000327143:p.Asn200Thr		A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	A	2.565	-0.300931	0.05495	.	.	ENSG00000178338	ENST00000322434	T	0.28255	1.62	3.23	0.69	0.18039	.	.	.	.	.	T	0.19406	0.0466	L	0.42632	1.34	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34675	-0.9819	9	0.10902	T	0.67	-30.4082	4.2519	0.10698	0.6596:0.2174:0.123:0.0	.	200	Q96LW1	Z354B_HUMAN	T	200	ENSP00000327143:N200T	ENSP00000327143:N200T	N	+	2	0	ZNF354B	178242658	0.000000	0.05858	0.996000	0.52242	0.983000	0.72400	-1.017000	0.03630	0.035000	0.15519	0.459000	0.35465	AAT		0.318	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		C	178310052	A	C	178310052	3	2	264	1	0	0	0	0	1	0	0	0	17870	101	4	5	613	5	ZNF354B	5	178310052	Missense_Mutation	SNP	A	TCGA-B4-5844-01A-11D-1669-08	37589135	178310052	2605208	22	15903											
PGK2	5232	broad.mit.edu	37	6	49754598	49754598	+	Silent	SNP	G	G	A	rs549102825		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr6:49754598G>A	ENST00000304801.3	-	1	455	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	101					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCACTTCTGCGCCTACACAGT	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19522	0.0		0.0	False		,,,				2504	0.0															0													123	115	117					6																	49754598		2203	4300	6503	SO:0001819	synonymous_variant	5232			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.303C>T	6.37:g.49754598G>A			B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	CCDS4930.1																																																																																				0.522	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			A	49754598	G	A	49754598	2	1	264	1	0	0	0	0	0	0	0	1	11793	1074	38	1		1	PGK2	6	49754598	Silent	SNP	G	TCGA-B4-5844-01A-11D-1669-08		49754598	121360469	23	15904											
TFAP2D	83741	broad.mit.edu	37	6	50683027	50683027	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr6:50683027C>G	ENST00000008391.3	+	2	466	c.238C>G	c.(238-240)Cac>Gac	p.H80D		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGAGTTTCAGCACAGCCACCC	0.597																																																0													218	177	191					6																	50683027		2203	4300	6503	SO:0001583	missense	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.238C>G	6.37:g.50683027C>G	ENSP00000008391:p.His80Asp			Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346461	0.24426	.	.	ENSG00000008197	ENST00000008391	D	0.96856	-4.15	5.07	5.07	0.68467	.	0.112655	0.64402	D	0.000010	D	0.87791	0.6266	N	0.08118	0	0.80722	D	1	B	0.28850	0.225	B	0.27887	0.084	D	0.85879	0.1421	10	0.37606	T	0.19	-4.4082	18.8076	0.92045	0.0:1.0:0.0:0.0	.	80	Q7Z6R9	AP2D_HUMAN	D	80	ENSP00000008391:H80D	ENSP00000008391:H80D	H	+	1	0	TFAP2D	50790986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.498000	0.84270	0.655000	0.94253	CAC		0.597	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		G	50683027	C	G	50683027	3	3	264	1	0	0	0	0	1	0	0	0	15795	710	25	4	244	4	TFAP2D	6	50683027	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08	928429	50683027	120432040	24	15905											
RIMS1	22999	broad.mit.edu	37	6	72960628	72960628	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr6:72960628delA	ENST00000521978.1	+	14	2377	c.2377delA	c.(2377-2379)aaafs	p.K793fs	RIMS1_ENST00000523963.1_Frame_Shift_Del_p.K267fs|RIMS1_ENST00000348717.5_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000425662.2_Frame_Shift_Del_p.K186fs|RIMS1_ENST00000401910.3_Frame_Shift_Del_p.K267fs|RIMS1_ENST00000520567.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000517960.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000264839.7_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000518273.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000517827.1_Frame_Shift_Del_p.K252fs|RIMS1_ENST00000491071.2_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000522291.1_Frame_Shift_Del_p.K793fs	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	793	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTTCAGTGATAAAAGTAAAAG	0.294																																																0													47	44	45					6																	72960628		1761	3984	5745	SO:0001589	frameshift_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2377delA	6.37:g.72960628delA	ENSP00000428417:p.Lys793fs		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Frame_Shift_Del	DEL	ENST00000521978.1	37	CCDS47449.1																																																																																				0.294	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			-	72960628	A	-	72960628	7	5	264	1	0	1	0	1	0	0	0	0	13373	363	13	0	2594	0	RIMS1	6	72960628	Frame_Shift_Del	DEL	A	TCGA-B4-5844-01A-11D-1669-08	22277601	72960628	98154439	25	15906											
QRSL1	55278	broad.mit.edu	37	6	107102774	107102774	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr6:107102774C>T	ENST00000369046.4	+	8	1123	c.1019C>T	c.(1018-1020)gCa>gTa	p.A340V		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		TCGAATATGGCAAGATTTGAT	0.378																																					NSCLC(192;2127 2142 11668 26277 49545)											0													161	153	156					6																	107102774		2203	4300	6503	SO:0001583	missense	55278			AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"glutamyl-tRNA(Gln) amidotransferase, subunit A"					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1019C>T	6.37:g.107102774C>T	ENSP00000358042:p.Ala340Val			Missense_Mutation	SNP	ENST00000369046.4	37	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500978	0.96371	.	.	ENSG00000130348	ENST00000369046	T	0.56444	0.46	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89390	0.3688	10	0.87932	D	0	-22.5098	19.4594	0.94910	0.0:1.0:0.0:0.0	.	340	Q9H0R6	GATA_HUMAN	V	340	ENSP00000358042:A340V	ENSP00000358042:A340V	A	+	2	0	QRSL1	107209467	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.454000	0.80714	2.605000	0.88082	0.591000	0.81541	GCA		0.378	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292		T	107102774	C	T	107102774	3	4	264	1	0	0	0	0	1	0	0	0	12887	710	25	2	1049	2	QRSL1	6	107102774	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08	34142146	107102774	64012293	26	15907											
ZC3H12D	340152	broad.mit.edu	37	6	149773757	149773757	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr6:149773757G>T	ENST00000409806.3	-	5	1100	c.782C>A	c.(781-783)cCt>cAt	p.P261H	ZC3H12D_ENST00000542614.1_Missense_Mutation_p.P261H|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.P261H|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.P261H			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	261					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		CCCACCATAAGGACAATGCTG	0.632																																																0													32	37	35					6																	149773757		1914	4118	6032	SO:0001583	missense	340152					6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"Zinc fingers, CCCH-type domain containing"	21175	protein-coding gene	gene with protein product	"MCP induced protein 4"	611106	"chromosome 6 open reading frame 95"	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.782C>A	6.37:g.149773757G>T	ENSP00000386616:p.Pro261His		A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.112103	0.77210	.	.	ENSG00000178199	ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614	T;T;T;T	0.46451	0.87;1.09;0.87;1.15	4.6	4.6	0.57074	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	M	0.63843	1.955	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61520	-0.7046	10	0.87932	D	0	-22.1976	17.6256	0.88093	0.0:0.0:1.0:0.0	.	261;261	A2A288;B7WNU7	ZC12D_HUMAN;.	H	261	ENSP00000374592:P261H;ENSP00000408686:P261H;ENSP00000386616:P261H;ENSP00000440813:P261H	ENSP00000374592:P261H	P	-	2	0	ZC3H12D	149815450	1.000000	0.71417	0.997000	0.53966	0.573000	0.36030	9.094000	0.94168	2.395000	0.81488	0.561000	0.74099	CCT		0.632	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		T	149773757	G	T	149773757	3	4	264	1	0	0	0	0	1	0	0	0	17569	1000	35	4	809	4	ZC3H12D	6	149773757	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	42670983	149773757	21341310	27	15908											
LRCH4	4034	broad.mit.edu	37	7	100175156	100175156	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr7:100175156G>A	ENST00000310300.6	-	10	1194	c.1142C>T	c.(1141-1143)cCt>cTt	p.P381L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	381					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCTGCCCCAGGGCTTAATTC	0.672																																																0													74	69	71					7																	100175156		2203	4300	6503	SO:0001583	missense	4034			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1142C>T	7.37:g.100175156G>A	ENSP00000309689:p.Pro381Leu		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	G	1.382	-0.583256	0.03827	.	.	ENSG00000077454	ENST00000310300	T	0.30448	1.53	5.43	3.59	0.41128	.	0.838409	0.10726	N	0.641206	T	0.11410	0.0278	N	0.01705	-0.755	0.20074	N	0.999933	B	0.02656	0.0	B	0.01281	0.0	T	0.27123	-1.0083	10	0.20519	T	0.43	0.0213	6.8285	0.23897	0.2084:0.0:0.7916:0.0	.	381	O75427	LRCH4_HUMAN	L	381	ENSP00000309689:P381L	ENSP00000309689:P381L	P	-	2	0	LRCH4	100013092	0.011000	0.17503	0.002000	0.10522	0.074000	0.17049	0.660000	0.25009	1.288000	0.44600	0.536000	0.68110	CCT		0.672	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		A	100175156	G	A	100175156	3	1	264	1	0	0	0	0	1	0	0	0	8937	1000	35	2	945	2	LRCH4	7	100175156	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08		100175156	58963507	28	15909											
TRIM24	8805	broad.mit.edu	37	7	138268636	138268636	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr7:138268636G>C	ENST00000343526.4	+	18	3050	c.2835G>C	c.(2833-2835)ttG>ttC	p.L945F	TRIM24_ENST00000415680.2_Missense_Mutation_p.L911F			O15164	TIF1A_HUMAN	tripartite motif containing 24	945	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CAATGGATTTGTCAACCATCA	0.284																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											0													51	57	55					7																	138268636		2203	4299	6502	SO:0001583	missense	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2835G>C	7.37:g.138268636G>C	ENSP00000340507:p.Leu945Phe		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768447	0.69878	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.36340	1.26;1.26	5.95	4.14	0.48551	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.41415	1.275	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.988	T	0.39313	-0.9620	10	0.41790	T	0.15	-11.3208	11.3559	0.49615	0.1995:0.0:0.8005:0.0	.	945;911	O15164;O15164-2	TIF1A_HUMAN;.	F	945;856;911	ENSP00000340507:L945F;ENSP00000390829:L911F	ENSP00000340507:L945F	L	+	3	2	TRIM24	137919176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.289000	0.33307	1.526000	0.49068	0.563000	0.77884	TTG		0.284	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		C	138268636	G	C	138268636	3	2	264	1	0	0	0	0	1	0	0	0	16503	1368	48	4	2905	4	TRIM24	7	138268636	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	38093480	138268636	20870027	29	15910											
XPO7	23039	broad.mit.edu	37	8	21839275	21839275	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr8:21839275T>C	ENST00000252512.9	+	10	1091	c.991T>C	c.(991-993)Tgc>Cgc	p.C331R	XPO7_ENST00000433566.4_Missense_Mutation_p.C332R|XPO7_ENST00000434536.1_Missense_Mutation_p.C340R	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	331				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCATGAGTTTTGCAGACTACT	0.393																																																0													135	124	128					8																	21839275		1838	4090	5928	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.991T>C	8.37:g.21839275T>C	ENSP00000252512:p.Cys331Arg		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807117	0.70797	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.42513	0.97;0.97;0.97	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.092308	0.85682	D	0.000000	T	0.73171	0.3553	H	0.94183	3.505	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.97	P;D;P	0.67900	0.896;0.954;0.896	T	0.81876	-0.0731	10	0.87932	D	0	-12.3081	15.5952	0.76574	0.0:0.0:0.0:1.0	.	332;340;331	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	R	340;331;332	ENSP00000404853:C340R;ENSP00000252512:C331R;ENSP00000410249:C332R	ENSP00000252512:C331R	C	+	1	0	XPO7	21895221	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.284000	0.72652	2.157000	0.67596	0.533000	0.62120	TGC		0.393	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		C	21839275	T	C	21839275	3	2	264	1	0	0	0	0	1	0	0	0	17454	1812	63	3	1081	3	XPO7	8	21839275	Missense_Mutation	SNP	T	TCGA-B4-5844-01A-11D-1669-08		21839275	124524747	30	15911											
ZNF395	55893	broad.mit.edu	37	8	28210125	28210126	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr8:28210125_28210126delCA	ENST00000344423.5	-	6	1015_1016	c.884_885delTG	c.(883-885)gtgfs	p.V295fs	ZNF395_ENST00000523095.1_Frame_Shift_Del_p.V295fs|ZNF395_ENST00000523202.1_Frame_Shift_Del_p.V295fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V295V(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GTTTGATGCCCACAATGGAGCG	0.564																																																1	Substitution - coding silent(1)	lung(1)																																								SO:0001589	frameshift_variant	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.884_885delTG	8.37:g.28210127_28210128delCA	ENSP00000340494:p.Val295fs		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Frame_Shift_Del	DEL	ENST00000344423.5	37	CCDS6067.1																																																																																				0.564	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			-	28210126	CA	-	28210125	7	5	264	1	0	1	0	1	0	0	0	0	17886	581	21	0	676	0	ZNF395	8	28210125	Frame_Shift_Del	DEL	CA	TCGA-B4-5844-01A-11D-1669-08	6370850	28210125	118153897	31	15912											
LY6E	4061	broad.mit.edu	37	8	144102375	144102375	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr8:144102375G>T	ENST00000520466.1	+	3	422	c.19G>T	c.(19-21)Gtg>Ttg	p.V7L	RP11-273G15.2_ENST00000502167.2_lincRNA|LY6E_ENST00000520531.1_Missense_Mutation_p.V7L|LY6E_ENST00000521003.1_Missense_Mutation_p.V7L|LY6E_ENST00000522528.1_Missense_Mutation_p.V7L|LY6E_ENST00000522024.1_Missense_Mutation_p.V7L|LY6E_ENST00000523847.1_Missense_Mutation_p.V7L|LY6E_ENST00000521182.1_Missense_Mutation_p.V7L|LY6E_ENST00000429120.2_Missense_Mutation_p.V7L|LY6E_ENST00000519611.1_Missense_Mutation_p.V7L|LY6E_ENST00000522971.1_Missense_Mutation_p.V7L|LY6E_ENST00000519546.1_Missense_Mutation_p.V7L|LY6E_ENST00000521699.1_Missense_Mutation_p.V7L|LY6E_ENST00000517503.1_Missense_Mutation_p.S101I|LY6E_ENST00000292494.6_Missense_Mutation_p.V7L			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	7					adrenal gland development (GO:0030325)|cell surface receptor signaling pathway (GO:0007166)|epinephrine secretion (GO:0048242)|in utero embryonic development (GO:0001701)|norepinephrine metabolic process (GO:0042415)|organ growth (GO:0035265)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTTCTTGCCAGTGCTGCTGGC	0.612																																																0													118	94	102					8																	144102375		2203	4300	6503	SO:0001583	missense	4061			U42376	CCDS6394.1	8q24	2008-08-07				ENSG00000160932			6727	protein-coding gene	gene with protein product	"retinoic acid induced gene E"	601384				8757598, 8650192	Standard	NM_001127213		Approved	TSA-1, RIG-E, SCA-2	uc003yxm.2	Q16553		ENST00000520466.1:c.19G>T	8.37:g.144102375G>T	ENSP00000428572:p.Val7Leu		B2R4X5|D3DWJ2|Q0VDE5	Missense_Mutation	SNP	ENST00000520466.1	37	CCDS6394.1	.	.	.	.	.	.	.	.	.	.	g	5.302	0.241170	0.10077	.	.	ENSG00000160932	ENST00000517503;ENST00000292494;ENST00000429120;ENST00000521699;ENST00000520531;ENST00000520466;ENST00000521003;ENST00000522528;ENST00000522971;ENST00000519611;ENST00000521182;ENST00000519546;ENST00000523847;ENST00000522024	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	3.92	-1.33	0.09172	.	0.538685	0.15089	N	0.281179	T	0.61286	0.2335	N	0.14661	0.345	0.09310	N	0.999998	B	0.12013	0.005	B	0.08055	0.003	T	0.43410	-0.9393	10	0.23891	T	0.37	-4.5395	3.4199	0.07389	0.4304:0.0:0.3891:0.1804	.	7	Q16553	LY6E_HUMAN	L	7	ENSP00000292494:V7L;ENSP00000414307:V7L;ENSP00000427915:V7L;ENSP00000428572:V7L;ENSP00000428169:V7L;ENSP00000428159:V7L;ENSP00000428442:V7L	ENSP00000292494:V7L	V	+	1	0	LY6E	144173750	0.005000	0.15991	0.065000	0.19835	0.137000	0.21094	-0.322000	0.08007	-0.290000	0.09025	-0.150000	0.13652	GTG		0.612	LY6E-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380125.1	NM_001127213		T	144102375	G	T	144102375	3	4	264	1	0	0	0	0	1	0	0	0	9093	1029	36	4	21	4	LY6E	8	144102375	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	115892250	144102375	2261647	32	15913											
LRRC19	64922	broad.mit.edu	37	9	26997769	26997769	+	Silent	SNP	T	T	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr9:26997769T>G	ENST00000380055.5	-	3	662	c.552A>C	c.(550-552)ctA>ctC	p.L184L	IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron|LRRC19_ENST00000482770.1_5'Flank|IFT74_ENST00000429045.2_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	184	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		GCAAATTAAATAGACTGCAAG	0.343																																																0													72	73	72					9																	26997769		2202	4300	6502	SO:0001819	synonymous_variant	64922			AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.552A>C	9.37:g.26997769T>G			A0AV00|B9EG91	Silent	SNP	ENST00000380055.5	37	CCDS6518.1																																																																																				0.343	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		G	26997769	T	G	26997769	2	3	264	1	0	0	0	0	0	0	0	1	8977	1393	49	5		5	LRRC19	9	26997769	Silent	SNP	T	TCGA-B4-5844-01A-11D-1669-08		26997769	114215662	33	15914											
CNTNAP3	79937	broad.mit.edu	37	9	39109190	39109190	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr9:39109190A>T	ENST00000297668.6	-	15	2405	c.2332T>A	c.(2332-2334)Tat>Aat	p.Y778N	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.Y690N|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.Y777N	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	778	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCCAGTGTATAAGCTGCTTCG	0.438																																																0													56	50	52					9																	39109190		2203	4300	6503	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2332T>A	9.37:g.39109190A>T	ENSP00000297668:p.Tyr778Asn		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	9.824	1.186497	0.21870	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.15603	2.41;2.41;2.41	2.99	1.83	0.25207	.	.	.	.	.	T	0.42966	0.1226	M	0.89534	3.04	0.09310	N	1	D;D;P	0.71674	0.998;0.984;0.935	D;D;P	0.69654	0.965;0.923;0.66	T	0.16897	-1.0387	9	0.59425	D	0.04	.	6.9483	0.24530	0.8815:0.0:0.1185:0.0	.	778;777;778	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	N	778;777;690	ENSP00000297668:Y778N;ENSP00000366884:Y777N;ENSP00000350863:Y690N	ENSP00000297668:Y778N	Y	-	1	0	CNTNAP3	39099190	0.855000	0.29742	0.529000	0.27951	0.161000	0.22273	2.674000	0.46867	0.373000	0.24621	0.254000	0.18369	TAT		0.438	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		T	39109190	A	T	39109190	3	4	264	1	0	0	0	0	1	0	0	0	3650	362	13	5	1574	5	CNTNAP3	9	39109190	Missense_Mutation	SNP	A	TCGA-B4-5844-01A-11D-1669-08	12111421	39109190	102104241	34	15915											
CNTNAP3	79937	broad.mit.edu	37	9	39176052	39176052	+	Missense_Mutation	SNP	C	C	A	rs368430481		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr9:39176052C>A	ENST00000297668.6	-	7	1038	c.965G>T	c.(964-966)cGg>cTg	p.R322L	CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R234L|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R322L|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R322L|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R322L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	322	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTGAATGCCCGCGATCTTCC	0.383																																																0													62	68	66					9																	39176052		2200	4297	6497	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.965G>T	9.37:g.39176052C>A	ENSP00000297668:p.Arg322Leu		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.225118	0.01530	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	3.09	1.93	0.25924	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	T	0.53433	0.1796	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.0	B;B;B;B;B	0.14023	0.007;0.01;0.001;0.001;0.0	T	0.40757	-0.9546	9	0.27785	T	0.31	.	8.5723	0.33576	0.6036:0.3963:0.0:0.0	.	322;322;322;322;322	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	L	322;322;234;322;322;234	ENSP00000297668:R322L;ENSP00000366884:R322L;ENSP00000350863:R234L;ENSP00000320728:R322L;ENSP00000366887:R322L	ENSP00000297668:R322L	R	-	2	0	CNTNAP3	39166052	0.275000	0.24201	0.001000	0.08648	0.042000	0.13812	2.173000	0.42472	0.401000	0.25424	-0.534000	0.04291	CGG		0.383	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		A	39176052	C	A	39176052	3	1	264	1	0	0	0	0	1	0	0	0	3650	652	23	4	2973	4	CNTNAP3	9	39176052	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08	66862	39176052	102037379	35	15916											
PPP3R2	116443	broad.mit.edu	37	9	104357086	104357086	+	Intron	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr9:104357086C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.V43M	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AACTCCTCCACGCTCAGAGAC	0.542																																																0													66	66	66					9																	104357086		2203	4300	6503	SO:0001627	intron_variant	5535				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15444G>A	9.37:g.104357086C>T			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243578	0.22796	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.71934	-0.61	3.84	2.92	0.33932	EF-hand-like domain (1);	0.461581	0.15985	N	0.235089	T	0.62258	0.2413	L	0.45581	1.43	0.30671	N	0.753398	B	0.21381	0.055	B	0.20384	0.029	T	0.63346	-0.6658	10	0.51188	T	0.08	-16.2384	10.1657	0.42879	0.0:0.8974:0.0:0.1026	.	40	Q96LZ3	CANB2_HUMAN	M	43	ENSP00000363939:V43M	ENSP00000363939:V43M	V	-	1	0	PPP3R2	103396907	1.000000	0.71417	0.940000	0.37924	0.170000	0.22686	1.926000	0.40084	1.173000	0.42796	0.563000	0.77884	GTG		0.542	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104357086	C	T	104357086	1	4	264	0	1	0	0	0	0	0	0	0	12406	536	19	1		1	PPP3R2	9	104357086	Intron	SNP	C	TCGA-B4-5844-01A-11D-1669-08	65181034	104357086	36856345	36	15917											
LRRTM3	347731	broad.mit.edu	37	10	68687088	68687088	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr10:68687088G>C	ENST00000361320.4	+	2	992	c.414G>C	c.(412-414)ttG>ttC	p.L138F	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	138					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TACGGAACTTGGATCTGTCCT	0.418																																																0													122	129	126					10																	68687088		2203	4300	6503	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.414G>C	10.37:g.68687088G>C	ENSP00000355187:p.Leu138Phe		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402199	0.42613	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.21031	2.03	5.43	4.52	0.55395	.	0.000000	0.51477	D	0.000097	T	0.52805	0.1757	M	0.90369	3.11	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62969	-0.6741	10	0.87932	D	0	.	12.9779	0.58547	0.0797:0.0:0.9203:0.0	.	138;138	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	F	138	ENSP00000355187:L138F	ENSP00000355187:L138F	L	+	3	2	LRRTM3	68357094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.074000	0.57577	1.277000	0.44412	0.655000	0.94253	TTG		0.418	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		C	68687088	G	C	68687088	3	2	264	1	0	0	0	0	1	0	0	0	9043	1339	47	4	420	4	LRRTM3	10	68687088	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08		68687088	66847659	37	15918											
TET1	80312	broad.mit.edu	37	10	70450720	70450720	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr10:70450720A>G	ENST00000373644.4	+	12	5769	c.5560A>G	c.(5560-5562)Act>Gct	p.T1854A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1854					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTCCCCGAAGACTGCTTCAGC	0.512																																																0													83	79	80					10																	70450720		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5560A>G	10.37:g.70450720A>G	ENSP00000362748:p.Thr1854Ala		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	4.708	0.131658	0.08981	.	.	ENSG00000138336	ENST00000373644	T	0.06142	3.34	5.48	0.382	0.16234	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	17.798000	0.00166	N	0.000003	T	0.05135	0.0137	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.38457	-0.9660	10	0.19590	T	0.45	.	0.3069	0.00282	0.2961:0.2297:0.2566:0.2175	.	1854	Q8NFU7	TET1_HUMAN	A	1854	ENSP00000362748:T1854A	ENSP00000362748:T1854A	T	+	1	0	TET1	70120726	0.000000	0.05858	0.001000	0.08648	0.205000	0.24178	-0.170000	0.09897	0.393000	0.25203	0.533000	0.62120	ACT		0.512	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70450720	A	G	70450720	3	3	264	1	0	0	0	0	1	0	0	0	15774	275	10	3	5602	3	TET1	10	70450720	Missense_Mutation	SNP	A	TCGA-B4-5844-01A-11D-1669-08	1763632	70450720	65084027	38	15919											
TRIM6	117854	broad.mit.edu	37	11	5632212	5632216	+	Frame_Shift_Del	DEL	GGGGG	GGGGG	-	rs10769124	byFrequency	TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:5632212_5632216delGGGGG	ENST00000278302.5	+	8	1247_1251	c.1107_1111delGGGGG	c.(1105-1113)ctgggggtafs	p.GV370fs	TRIM6_ENST00000515022.1_Frame_Shift_Del_p.GV195fs|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000506134.1_Frame_Shift_Del_p.GV195fs|TRIM6_ENST00000380107.1_Frame_Shift_Del_p.GV344fs|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_Frame_Shift_Del_p.GV195fs|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000445329.1_Frame_Shift_Del_p.GV195fs|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380097.3_Frame_Shift_Del_p.GV398fs	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	370	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTGGATCCTGGGGGTATGCAGCAA	0.488																																																0																																										SO:0001589	frameshift_variant	117854			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.1107_1111delGGGGG	11.37:g.5632212_5632216delGGGGG	ENSP00000278302:p.Gly370fs		A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Frame_Shift_Del	DEL	ENST00000278302.5	37	CCDS31390.1																																																																																				0.488	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		-	5632216	GGGGG	-	5632212	7	5	264	1	0	1	0	1	0	0	0	0	16538	1335	47	0	1221	0	TRIM6	11	5632212	Frame_Shift_Del	DEL	GGGGG	TCGA-B4-5844-01A-11D-1669-08		5632212	129374304	39	15920											
CSTF3	1479	broad.mit.edu	37	11	33107506	33107506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:33107506delC	ENST00000323959.4	-	19	1964	c.1825delG	c.(1825-1827)gtgfs	p.V609fs	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	609	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ACTGGGAACACTCCACCAGGT	0.423																																																0													62	60	61					11																	33107506		2202	4298	6500	SO:0001589	frameshift_variant	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1825delG	11.37:g.33107506delC	ENSP00000315791:p.Val609fs		A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Frame_Shift_Del	DEL	ENST00000323959.4	37	CCDS7883.1																																																																																				0.423	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		-	33107506	C	-	33107506	7	5	264	1	0	1	0	1	0	0	0	0	3988	565	20	0	340	0	CSTF3	11	33107506	Frame_Shift_Del	DEL	C	TCGA-B4-5844-01A-11D-1669-08	27475294	33107506	101899010	40	15921											
SCGB2A1	4246	broad.mit.edu	37	11	61977950	61977950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:61977950G>T	ENST00000244930.4	+	2	185	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	41					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						ATCTATACCTGAATACAAAGA	0.398																																																0													111	115	114					11																	61977950		2202	4299	6501	SO:0001587	stop_gained	4246			AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"Secretoglobins"	7051	protein-coding gene	gene with protein product	"lipophilin C", "mammaglobin B", "lacryglobin"	604398	"mammaglobin 2"	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.121G>T	11.37:g.61977950G>T	ENSP00000244930:p.Glu41*			Nonsense_Mutation	SNP	ENST00000244930.4	37	CCDS8016.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083584	0.36758	.	.	ENSG00000124939	ENST00000244930	.	.	.	3.54	-0.684	0.11331	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	3.4597	0.07528	0.3599:0.1997:0.4405:0.0	.	.	.	.	X	41	.	ENSP00000244930:E41X	E	+	1	0	SCGB2A1	61734526	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.150000	0.10189	-0.119000	0.11830	0.555000	0.69702	GAA		0.398	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1	NM_002407		T	61977950	G	T	61977950	4	4	264	1	0	0	0	0	0	1	0	0	13905	1291	45	4	127	4	SCGB2A1	11	61977950	Nonsense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	28870444	61977950	73028566	41	15922											
C11orf84	144097	broad.mit.edu	37	11	63585351	63585351	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:63585351A>G	ENST00000294244.4	+	2	501	c.202A>G	c.(202-204)Aag>Gag	p.K68E		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	68										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TGAGGAGCCGAAGCAGCAGGT	0.667																																																0													55	49	51					11																	63585351		2200	4298	6498	SO:0001583	missense	144097			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.202A>G	11.37:g.63585351A>G	ENSP00000294244:p.Lys68Glu		Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	A	7.667	0.686071	0.14973	.	.	ENSG00000168005	ENST00000294244	T	0.42900	0.96	5.18	4.05	0.47172	.	1.294160	0.05038	N	0.475756	T	0.33760	0.0874	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.22871	-1.0204	10	0.87932	D	0	-13.8555	4.6307	0.12500	0.8302:0.0:0.1698:0.0	.	68	Q9BUA3	CK084_HUMAN	E	68	ENSP00000294244:K68E	ENSP00000294244:K68E	K	+	1	0	C11orf84	63341927	0.908000	0.30866	0.255000	0.24374	0.321000	0.28281	1.375000	0.34295	1.969000	0.57287	0.459000	0.35465	AAG		0.667	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		G	63585351	A	G	63585351	3	3	264	1	0	0	0	0	1	0	0	0	1669	247	9	3	208	3	C11orf84	11	63585351	Missense_Mutation	SNP	A	TCGA-B4-5844-01A-11D-1669-08	1607401	63585351	71421165	42	15923											
FAM168A	23201	broad.mit.edu	37	11	73120706	73120706	+	Splice_Site	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:73120706C>A	ENST00000064778.4	-	7	732	c.448G>T	c.(448-450)Gga>Tga	p.G150*	FAM168A_ENST00000356467.4_Splice_Site_p.G141*|RP11-809N8.4_ENST00000542598.1_RNA|RP11-809N8.4_ENST00000536855.1_RNA|FAM168A_ENST00000450446.2_Intron			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	150										endometrium(3)|kidney(1)|lung(1)	5						TAGTAGGCTCCCTGGGGGAAA	0.582																																																0													109	120	117					11																	73120706		2119	4218	6337	SO:0001630	splice_region_variant	23201			BC014932	CCDS41689.1, CCDS66165.1, CCDS73346.1	11q13.4	2008-06-11	2008-06-11	2008-06-11		ENSG00000054965			28999	protein-coding gene	gene with protein product	"tongue cancer chemotherapy resistance-associated protein 1"		"KIAA0280"	KIAA0280			Standard	XM_005273852		Approved	TCRP1	uc001oty.1	Q92567		ENST00000064778.4:c.448-1G>T	11.37:g.73120706C>A			A2ICY2|A2ID81|Q86UG2	Splice_Site	SNP	ENST00000064778.4	37		.	.	.	.	.	.	.	.	.	.	C	39	7.301682	0.98196	.	.	ENSG00000054965	ENST00000064778;ENST00000356467	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.5845	0.91183	0.0:1.0:0.0:0.0	.	.	.	.	X	150;141	.	ENSP00000064778:G150X	G	-	1	0	FAM168A	72798354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.648000	0.89879	0.561000	0.74099	GGA		0.582	FAM168A-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000397424.1	NM_015159	Nonsense_Mutation	A	73120706	C	A	73120706	5	1	264	1	0	0	0	0	0	0	1	0	5487	637	22	4	294	4	FAM168A	11	73120706	Splice_Site	SNP	C	TCGA-B4-5844-01A-11D-1669-08	9535355	73120706	61885810	43	15924											
SIAE	54414	broad.mit.edu	37	11	124543579	124543579	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:124543579C>T	ENST00000263593.3	-	1	198	c.26G>A	c.(25-27)gGg>gAg	p.G9E	SIAE_ENST00000545756.1_5'UTR|SIAE_ENST00000525730.1_Intron|SPA17_ENST00000227135.2_5'Flank|SPA17_ENST00000532692.1_5'Flank			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	9					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)	p.G9V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CAGCACCAGCCCGAGTACAAG	0.711																																																1	Substitution - Missense(1)	breast(1)											23	26	25					11																	124543579		2197	4297	6494	SO:0001583	missense	54414			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.26G>A	11.37:g.124543579C>T	ENSP00000263593:p.Gly9Glu		B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584496	0.46110	.	.	ENSG00000110013	ENST00000263593	D	0.84589	-1.87	4.69	2.79	0.32731	.	1.438130	0.04107	N	0.313897	T	0.73063	0.3539	N	0.19112	0.55	0.26006	N	0.982054	B	0.12630	0.006	B	0.12837	0.008	T	0.58668	-0.7596	10	0.06494	T	0.89	-2.0428	6.7038	0.23240	0.0:0.7237:0.1788:0.0974	.	9	Q9HAT2	SIAE_HUMAN	E	9	ENSP00000263593:G9E	ENSP00000263593:G9E	G	-	2	0	SIAE	124048789	0.008000	0.16893	0.140000	0.22221	0.375000	0.29983	0.501000	0.22578	0.680000	0.31366	0.467000	0.42956	GGG		0.711	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		T	124543579	C	T	124543579	3	4	264	1	0	0	0	0	1	0	0	0	14304	623	22	2	1585	2	SIAE	11	124543579	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08	51422873	124543579	10462937	44	15925											
GNPTAB	79158	broad.mit.edu	37	12	102159997	102159997	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr12:102159997A>C	ENST00000299314.7	-	12	1746	c.1484T>G	c.(1483-1485)tTt>tGt	p.F495C	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	495	Gly-rich.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTCCACCAAACTGCCAGGG	0.498																																																0													171	153	159					12																	102159997		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1484T>G	12.37:g.102159997A>C	ENSP00000299314:p.Phe495Cys		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324049	0.81580	.	.	ENSG00000111670	ENST00000299314	D	0.96522	-4.04	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.95385	0.8502	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	P	0.57324	0.818	D	0.95284	0.8389	10	0.87932	D	0	-22.4447	10.202	0.43089	0.9257:0.0:0.0743:0.0	.	495	Q3T906	GNPTA_HUMAN	C	495	ENSP00000299314:F495C	ENSP00000299314:F495C	F	-	2	0	GNPTAB	100684128	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.804000	0.75186	2.193000	0.70182	0.533000	0.62120	TTT		0.498	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			C	102159997	A	C	102159997	3	2	264	1	0	0	0	0	1	0	0	0	6547	14	1	5	2326	5	GNPTAB	12	102159997	Missense_Mutation	SNP	A	TCGA-B4-5844-01A-11D-1669-08		102159997	31691898	45	15926											
UBE3B	89910	broad.mit.edu	37	12	109939265	109939265	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr12:109939265G>A	ENST00000342494.3	+	13	1803	c.1208G>A	c.(1207-1209)aGc>aAc	p.S403N	UBE3B_ENST00000434735.2_Missense_Mutation_p.S403N|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.S403N	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	403					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GACATCCTGAGCAAGAAGCTA	0.567																																																0													111	102	105					12																	109939265		2203	4300	6503	SO:0001583	missense	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1208G>A	12.37:g.109939265G>A	ENSP00000340596:p.Ser403Asn		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196416	0.58126	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.43294	1.28;0.95;1.54;1.28	5.55	2.76	0.32466	.	0.272266	0.45867	N	0.000334	T	0.36963	0.0986	L	0.57536	1.79	0.39575	D	0.969337	B	0.18610	0.029	B	0.12837	0.008	T	0.17228	-1.0376	10	0.40728	T	0.16	-1.7474	9.9717	0.41759	0.2233:0.0:0.7767:0.0	.	403	Q7Z3V4	UBE3B_HUMAN	N	403	ENSP00000391529:S403N;ENSP00000280774:S403N;ENSP00000443131:S403N;ENSP00000340596:S403N	ENSP00000280774:S403N	S	+	2	0	UBE3B	108423648	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.340000	0.52143	0.310000	0.22990	-0.137000	0.14449	AGC		0.567	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		A	109939265	G	A	109939265	3	1	264	1	0	0	0	0	1	0	0	0	16885	971	34	2	1250	2	UBE3B	12	109939265	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	7779268	109939265	23912630	46	15927											
NAA25	80018	broad.mit.edu	37	12	112509842	112509842	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr12:112509842G>A	ENST00000261745.4	-	10	1141	c.893C>T	c.(892-894)tCt>tTt	p.S298F	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	298						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						TTTTTCTGCAGAATAATGTAC	0.393																																																0													78	66	70					12																	112509842		2203	4300	6503	SO:0001583	missense	80018			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.893C>T	12.37:g.112509842G>A	ENSP00000261745:p.Ser298Phe		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274075	0.80580	.	.	ENSG00000111300	ENST00000261745	T	0.48522	0.81	5.8	5.8	0.92144	.	0.119985	0.64402	D	0.000019	T	0.53578	0.1805	M	0.68952	2.095	0.58432	D	0.999999	P;P	0.46784	0.884;0.884	P;P	0.44732	0.459;0.459	T	0.58880	-0.7558	10	0.72032	D	0.01	-12.116	16.3293	0.83004	0.0:0.1319:0.8681:0.0	.	298;298	A8K8X0;Q14CX7	.;NAA25_HUMAN	F	298	ENSP00000261745:S298F	ENSP00000261745:S298F	S	-	2	0	NAA25	110994225	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.702000	0.74628	2.744000	0.94065	0.655000	0.94253	TCT		0.393	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		A	112509842	G	A	112509842	3	1	264	1	0	0	0	0	1	0	0	0	10123	942	33	2	2085	2	NAA25	12	112509842	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	2570577	112509842	21342053	47	15928											
OR4K14	122740	broad.mit.edu	37	14	20483333	20483333	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr14:20483333G>T	ENST00000305045.2	-	1	19	c.20C>A	c.(19-21)tCc>tAc	p.S7Y		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACACCAAGGAATAGTTCTG	0.378																																																0													43	44	44					14																	20483333		2171	4281	6452	SO:0001583	missense	122740				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.20C>A	14.37:g.20483333G>T	ENSP00000305011:p.Ser7Tyr		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	10.10	1.257248	0.22965	.	.	ENSG00000169484	ENST00000305045	T	0.54479	0.57	4.15	4.15	0.48705	.	0.215756	0.23515	N	0.047359	T	0.77624	0.4158	H	0.95539	3.685	0.21841	N	0.999515	D	0.89917	1.0	D	0.79108	0.992	T	0.70887	-0.4750	10	0.87932	D	0	.	9.2406	0.37493	0.0:0.0:0.7843:0.2157	.	7	Q8NGD5	OR4KE_HUMAN	Y	7	ENSP00000305011:S7Y	ENSP00000305011:S7Y	S	-	2	0	OR4K14	19553173	0.145000	0.22656	0.776000	0.31678	0.020000	0.10135	1.595000	0.36708	2.131000	0.65755	0.603000	0.83216	TCC		0.378	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			T	20483333	G	T	20483333	3	4	264	1	0	0	0	0	1	0	0	0	11071	1174	41	4	915	4	OR4K14	14	20483333	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08		20483333	86866207	48	15929											
AHNAK2	113146	broad.mit.edu	37	14	105413493	105413493	+	Silent	SNP	C	C	T	rs529530064		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr14:105413493C>T	ENST00000333244.5	-	7	8414	c.8295G>A	c.(8293-8295)gcG>gcA	p.A2765A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2765						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTCACTTCCGCCTTGGGGC	0.612													.|||	1	0.000199681	0.0	0.0	5008	,	,		17777	0.0		0.0	False		,,,				2504	0.001															0													120	134	129					14																	105413493		1860	4082	5942	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8295G>A	14.37:g.105413493C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105413493	C	T	105413493	2	4	264	1	0	0	0	0	0	0	0	1	415	639	23	1		1	AHNAK2	14	105413493	Silent	SNP	C	TCGA-B4-5844-01A-11D-1669-08	84930160	105413493	1936047	49	15930											
MAPKBP1	23005	broad.mit.edu	37	15	42113793	42113793	+	Silent	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:42113793C>A	ENST00000456763.2	+	25	2944	c.2748C>A	c.(2746-2748)ccC>ccA	p.P916P	MAPKBP1_ENST00000221214.6_Silent_p.P793P|MAPKBP1_ENST00000260357.7_Silent_p.P749P|MAPKBP1_ENST00000457542.2_Silent_p.P910P|MAPKBP1_ENST00000514566.1_Silent_p.P910P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	916										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATGAAAAGCCCCCTCGGCCTC	0.537																																																0													134	122	126					15																	42113793		2203	4300	6503	SO:0001819	synonymous_variant	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2748C>A	15.37:g.42113793C>A			A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	CCDS45239.1																																																																																				0.537	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		A	42113793	C	A	42113793	2	1	264	1	0	0	0	0	0	0	0	1	9294	610	22	4		4	MAPKBP1	15	42113793	Silent	SNP	C	TCGA-B4-5844-01A-11D-1669-08		42113793	60417599	50	15931											
TGM7	116179	broad.mit.edu	37	15	43572078	43572078	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:43572078G>A	ENST00000452443.2	-	10	1427	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	475					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TCCAGGAAGGGCAAAGAAGCT	0.592																																																0													64	70	68					15																	43572078		2202	4299	6501	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1423C>T	15.37:g.43572078G>A	ENSP00000389466:p.Pro475Ser			Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.342496	0.01277	.	.	ENSG00000159495	ENST00000452443	T	0.78816	-1.21	4.55	-1.76	0.08006	.	0.943542	0.08900	N	0.877339	T	0.60919	0.2306	L	0.43152	1.355	0.09310	N	0.999999	B	0.20887	0.049	B	0.18263	0.021	T	0.44544	-0.9321	10	0.06494	T	0.89	-2.3354	4.0968	0.09995	0.4803:0.0:0.3543:0.1654	.	475	Q96PF1	TGM7_HUMAN	S	475	ENSP00000389466:P475S	ENSP00000389466:P475S	P	-	1	0	TGM7	41359370	0.207000	0.23482	0.014000	0.15608	0.192000	0.23643	0.287000	0.18920	-0.587000	0.05890	-0.961000	0.02630	CCC		0.592	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		A	43572078	G	A	43572078	3	1	264	1	0	0	0	0	1	0	0	0	15840	1203	42	2	725	2	TGM7	15	43572078	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	1458285	43572078	58959314	51	15932											
PAQR5	54852	broad.mit.edu	37	15	69689888	69689888	+	Silent	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:69689888C>T	ENST00000340965.3	+	7	1262	c.594C>T	c.(592-594)ctC>ctT	p.L198L	PAQR5_ENST00000395407.2_Silent_p.L198L|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000561153.1_Silent_p.L198L	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	198					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GGGACTCCCTCCCCATCTTCT	0.522																																																0													182	149	161					15																	69689888		2199	4298	6497	SO:0001819	synonymous_variant	54852				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.594C>T	15.37:g.69689888C>T			Q8IXU2	Silent	SNP	ENST00000340965.3	37	CCDS10232.1																																																																																				0.522	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		T	69689888	C	T	69689888	2	4	264	1	0	0	0	0	0	0	0	1	11440	842	30	2		2	PAQR5	15	69689888	Silent	SNP	C	TCGA-B4-5844-01A-11D-1669-08	26117810	69689888	32841504	52	15933											
LARP6	55323	broad.mit.edu	37	15	71124409	71124409	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:71124409C>A	ENST00000299213.8	-	3	1528	c.1458G>T	c.(1456-1458)agG>agT	p.R486S	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	486					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGGCCCTGCTCCTCTCATGGC	0.502																																																0													95	100	99					15																	71124409		2199	4297	6496	SO:0001583	missense	55323			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.1458G>T	15.37:g.71124409C>A	ENSP00000299213:p.Arg486Ser		Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	ENST00000299213.8	37	CCDS32281.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.119945	0.20877	.	.	ENSG00000166173	ENST00000299213	T	0.52754	0.65	5.17	0.297	0.15762	.	0.104149	0.64402	D	0.000005	T	0.32010	0.0815	L	0.29908	0.895	0.29877	N	0.826366	B	0.26081	0.141	B	0.20184	0.028	T	0.25328	-1.0135	10	0.87932	D	0	-27.3334	10.1078	0.42544	0.0:0.5325:0.0:0.4675	.	486	Q9BRS8	LARP6_HUMAN	S	486	ENSP00000299213:R486S	ENSP00000299213:R486S	R	-	3	2	LARP6	68911463	0.990000	0.36364	0.386000	0.26170	0.597000	0.36814	0.511000	0.22739	-0.072000	0.12864	-1.644000	0.00765	AGG		0.502	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		A	71124409	C	A	71124409	3	1	264	1	0	0	0	0	1	0	0	0	8634	854	30	4	21	4	LARP6	15	71124409	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08	1434521	71124409	31406983	53	15934											
MORF4L1	10933	broad.mit.edu	37	15	79187218	79187218	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:79187218T>G	ENST00000331268.5	+	12	1180	c.976T>G	c.(976-978)Tta>Gta	p.L326V	MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558502.1_Missense_Mutation_p.L199V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.L312V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.L287V|MORF4L1_ENST00000558746.1_Missense_Mutation_p.L260V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.L199V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	326	Interaction with RB1-2.|MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						CCTTGCTTTATTACTCAATTA	0.368																																																0													133	118	123					15																	79187218		2196	4293	6489	SO:0001583	missense	10933			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"MORF-related gene on chromosome 15", "Esa1p-associated factor 3 homolog (S. cerevisiae)"	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.976T>G	15.37:g.79187218T>G	ENSP00000331310:p.Leu326Val		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400205	0.62177	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.17528	2.27;2.27;2.27	4.99	3.86	0.44501	.	0.000000	0.64402	D	0.000003	T	0.30293	0.0760	M	0.66939	2.045	0.58432	D	0.99999	D;P	0.58620	0.983;0.939	P;P	0.61874	0.826;0.895	T	0.03193	-1.1062	10	0.46703	T	0.11	-9.8484	5.1502	0.15005	0.0:0.2508:0.0:0.7492	.	287;326	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	V	312;287;326	ENSP00000368850:L312V;ENSP00000408880:L287V;ENSP00000331310:L326V	ENSP00000331310:L326V	L	+	1	2	MORF4L1	76974273	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.716000	0.47219	2.009000	0.58944	0.533000	0.62120	TTA		0.368	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		G	79187218	T	G	79187218	3	3	264	1	0	0	0	0	1	0	0	0	9708	1490	52	5	1022	5	MORF4L1	15	79187218	Missense_Mutation	SNP	T	TCGA-B4-5844-01A-11D-1669-08	8062809	79187218	23344174	54	15935											
PCSK6	5046	broad.mit.edu	37	15	101983760	101983760	+	Splice_Site	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:101983760C>A	ENST00000561177.1	-	2	569		c.e2+1		PCSK6_ENST00000344273.2_Splice_Site|PCSK6_ENST00000348070.1_Splice_Site|PCSK6_ENST00000398181.2_Splice_Site|PCSK6_ENST00000358417.3_Splice_Site			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6						determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACACTCTGTACCTGGGGGTCC	0.453																																																0													121	125	123					15																	101983760		1893	4103	5996	SO:0001630	splice_region_variant	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000561177.1:c.3838+1G>T	15.37:g.101983760C>A			Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Splice_Site	SNP	ENST00000561177.1	37		.	.	.	.	.	.	.	.	.	.	C	19.55	3.848999	0.71603	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8282	0.88672	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK6	99801283	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.568000	0.67385	2.822000	0.97130	0.650000	0.86243	.		0.453	PCSK6-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000416811.5	NM_002570	Intron	A	101983760	C	A	101983760	5	1	264	1	0	0	0	0	0	0	1	0	11606	521	18	4	3069	4	PCSK6	15	101983760	Splice_Site	SNP	C	TCGA-B4-5844-01A-11D-1669-08	22796542	101983760	547632	55	15936											
TNRC6A	27327	broad.mit.edu	37	16	24802866	24802866	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr16:24802866C>A	ENST00000395799.3	+	6	3032	c.2903C>A	c.(2902-2904)aCa>aAa	p.T968K	TNRC6A_ENST00000315183.7_Missense_Mutation_p.T968K	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	968	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CCTCCTGGTACAGGCTGGCTG	0.527																																																0													38	42	41					16																	24802866		2197	4300	6497	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2903C>A	16.37:g.24802866C>A	ENSP00000379144:p.Thr968Lys		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527961	0.64860	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13538	2.58;2.6	5.44	5.44	0.79542	.	0.275081	0.38058	N	0.001834	T	0.15652	0.0377	L	0.46157	1.445	0.80722	D	1	B;B;B	0.33238	0.071;0.403;0.255	B;B;B	0.33690	0.149;0.168;0.038	T	0.02676	-1.1125	10	0.32370	T	0.25	-7.9019	16.7721	0.85541	0.0:1.0:0.0:0.0	.	715;968;968	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	K	968	ENSP00000326900:T968K;ENSP00000379144:T968K	ENSP00000326900:T968K	T	+	2	0	TNRC6A	24710367	0.608000	0.26966	1.000000	0.80357	0.998000	0.95712	4.890000	0.63178	2.700000	0.92200	0.655000	0.94253	ACA		0.527	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		A	24802866	C	A	24802866	3	1	264	1	0	0	0	0	1	0	0	0	16345	478	17	4	2925	4	TNRC6A	16	24802866	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08		24802866	65551887	56	15937											
NUP93	9688	broad.mit.edu	37	16	56852646	56852646	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr16:56852646G>A	ENST00000308159.5	+	6	681	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	NUP93_ENST00000542526.1_Missense_Mutation_p.R64Q|NUP93_ENST00000569842.1_Missense_Mutation_p.R187Q|NUP93_ENST00000564887.1_Missense_Mutation_p.R64Q	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	187					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCCTATGCGCGGCAAGTGAGT	0.443																																					Colon(33;610 796 1305 1705 38917)											0													110	107	108					16																	56852646		2198	4300	6498	SO:0001583	missense	9688			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.560G>A	16.37:g.56852646G>A	ENSP00000310668:p.Arg187Gln		B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771856	0.69992	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.44482	0.92;0.95	5.27	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	N	0.14661	0.345	0.80722	D	1	B	0.24576	0.106	B	0.12156	0.007	T	0.04825	-1.0924	10	0.38643	T	0.18	-14.6025	13.6527	0.62320	0.0756:0.0:0.9244:0.0	.	187	Q8N1F7	NUP93_HUMAN	Q	187;64	ENSP00000310668:R187Q;ENSP00000440235:R64Q	ENSP00000310668:R187Q	R	+	2	0	NUP93	55410147	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.134000	0.71689	1.359000	0.45940	0.655000	0.94253	CGG		0.443	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		A	56852646	G	A	56852646	3	1	264	1	0	0	0	0	1	0	0	0	10774	1116	39	1	578	1	NUP93	16	56852646	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	32049780	56852646	33502107	57	15938											
HYDIN	54768	broad.mit.edu	37	16	71212850	71212850	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr16:71212850A>G	ENST00000393567.2	-	4	512	c.362T>C	c.(361-363)aTt>aCt	p.I121T	HYDIN_ENST00000288168.10_Missense_Mutation_p.I138T|HYDIN_ENST00000541601.1_Missense_Mutation_p.I138T|HYDIN_ENST00000393550.2_Missense_Mutation_p.I121T|HYDIN_ENST00000321489.5_Missense_Mutation_p.I121T|HYDIN_ENST00000538248.1_Missense_Mutation_p.I148T|HYDIN_ENST00000448089.2_Missense_Mutation_p.I121T|HYDIN_ENST00000448691.1_Missense_Mutation_p.I121T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	121					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTCCTCAAAATCAGTGGAAC	0.398																																																0													126	129	128					16																	71212850		2198	4300	6498	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.362T>C	16.37:g.71212850A>G	ENSP00000377197:p.Ile121Thr		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	3.662	-0.069283	0.07228	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.12465	5.73;3.92;3.93;3.93;3.91;3.93;3.57;2.68	5.6	4.51	0.55191	.	0.322503	0.15861	U	0.241033	T	0.07908	0.0198	N	0.16903	0.455	0.26187	N	0.979632	B;B;B;B;B	0.25169	0.0;0.0;0.0;0.0;0.119	B;B;B;B;B	0.18561	0.001;0.001;0.001;0.001;0.022	T	0.35895	-0.9770	10	0.12766	T	0.61	.	10.2874	0.43575	0.8618:0.0:0.1382:0.0	.	148;138;138;121;121	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	T	121;121;121;121;121;148;138;138;121	ENSP00000377197:I121T;ENSP00000398544:I121T;ENSP00000394826:I121T;ENSP00000314736:I121T;ENSP00000444970:I148T;ENSP00000437341:I138T;ENSP00000288168:I138T;ENSP00000377181:I121T	ENSP00000288168:I138T	I	-	2	0	HYDIN	69770351	0.977000	0.34250	0.997000	0.53966	0.845000	0.48019	1.735000	0.38176	0.944000	0.37579	-0.609000	0.04063	ATT		0.398	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	71212850	A	G	71212850	3	3	264	1	0	0	0	0	1	0	0	0	7469	101	4	3	15344	3	HYDIN	16	71212850	Missense_Mutation	SNP	A	TCGA-B4-5844-01A-11D-1669-08	14360204	71212850	19141903	58	15939											
DNAH9	1770	broad.mit.edu	37	17	11809061	11809061	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:11809061C>T	ENST00000262442.4	+	61	11752	c.11684C>T	c.(11683-11685)cCa>cTa	p.P3895L	DNAH9_ENST00000608377.1_Missense_Mutation_p.P207L|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.P3895L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3895	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAATCGGGACCAGCCACTCCT	0.478																																																0													71	71	71					17																	11809061		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11684C>T	17.37:g.11809061C>T	ENSP00000262442:p.Pro3895Leu		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140194	0.94560	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.09350	2.99;2.99;2.99	4.81	4.81	0.61882	Dynein heavy chain (1);	0.110364	0.64402	D	0.000007	T	0.49525	0.1562	H	0.98721	4.31	0.80722	D	1	D;D	0.58620	0.977;0.983	P;P	0.59487	0.847;0.858	T	0.72673	-0.4222	10	0.87932	D	0	.	18.4172	0.90574	0.0:1.0:0.0:0.0	.	248;3895	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	L	3895;3895;2477;207;248	ENSP00000262442:P3895L;ENSP00000414874:P3895L;ENSP00000379323:P207L	ENSP00000262442:P3895L	P	+	2	0	DNAH9	11749786	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.575000	0.82447	2.665000	0.90641	0.655000	0.94253	CCA		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11809061	C	T	11809061	3	4	264	1	0	0	0	0	1	0	0	0	4610	594	21	2	11926	2	DNAH9	17	11809061	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08		11809061	69386149	59	15940											
G6PC	2538	broad.mit.edu	37	17	41063346	41063346	+	Frame_Shift_Del	DEL	C	C	-	rs80356486		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:41063346delC	ENST00000253801.2	+	5	1056	c.977delC	c.(976-978)tccfs	p.S326fs	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	326					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TACGTCTTGTCCTTCTGCAAG	0.582																																																0													144	141	142					17																	41063346		2203	4300	6503	SO:0001589	frameshift_variant	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.977delC	17.37:g.41063346delC	ENSP00000253801:p.Ser326fs		A1L4C0|B4E1C3|K7EL82	Frame_Shift_Del	DEL	ENST00000253801.2	37	CCDS11446.1																																																																																				0.582	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		-	41063346	C	-	41063346	7	5	264	1	0	1	0	1	0	0	0	0	6145	855	30	0	995	0	G6PC	17	41063346	Frame_Shift_Del	DEL	C	TCGA-B4-5844-01A-11D-1669-08	29254285	41063346	40131864	60	15941											
NBR1	4077	broad.mit.edu	37	17	41341765	41341766	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:41341765_41341766delAT	ENST00000422280.1	+	8	1100_1101	c.641_642delAT	c.(640-642)catfs	p.H214fs	NBR1_ENST00000542611.1_Frame_Shift_Del_p.H193fs|NBR1_ENST00000589872.1_Frame_Shift_Del_p.H214fs|NBR1_ENST00000389312.4_Frame_Shift_Del_p.H214fs|NBR1_ENST00000341165.6_Frame_Shift_Del_p.H214fs|NBR1_ENST00000590996.1_Frame_Shift_Del_p.H214fs	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	214					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TTCAGCTGGCATATTGCTTGCA	0.465																																																0																																										SO:0001589	frameshift_variant	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.641_642delAT	17.37:g.41341767_41341768delAT	ENSP00000411250:p.His214fs		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Frame_Shift_Del	DEL	ENST00000422280.1	37	CCDS45694.1																																																																																				0.465	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		-	41341766	AT	-	41341765	7	5	264	1	0	1	0	1	0	0	0	0	10202	217	8	0	667	0	NBR1	17	41341765	Frame_Shift_Del	DEL	AT	TCGA-B4-5844-01A-11D-1669-08	278419	41341765	39853445	61	15942											
CRHR1	1394	broad.mit.edu	37	17	43898756	43898756	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:43898756T>G	ENST00000398285.3	+	4	277	c.277T>G	c.(277-279)Tgg>Ggg	p.W93G	CRHR1_ENST00000314537.5_Missense_Mutation_p.W93G|CRHR1_ENST00000352855.5_Missense_Mutation_p.W53G|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000577353.1_Missense_Mutation_p.W93G	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	93					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CAATGGCAGCTGGGCCGCCCG	0.642																																					Ovarian(110;57 1568 10207 38216 49865)											0													52	59	57					17																	43898756		1962	4158	6120	SO:0001583	missense	1394			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.277T>G	17.37:g.43898756T>G	ENSP00000381333:p.Trp93Gly		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075111	0.36566	.	.	ENSG00000120088	ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	D;D;D;T	0.84442	-1.85;-1.85;-1.85;0.66	4.84	4.84	0.62591	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	D	0.94801	0.8321	H	0.97440	4.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95979	0.8976	10	0.72032	D	0.01	.	12.7009	0.57032	0.0:0.0:0.0:1.0	.	93;93;53;93	P34998-4;P34998;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.	G	93;93;93;53	ENSP00000381333:W93G;ENSP00000326060:W93G;ENSP00000239167:W93G;ENSP00000344068:W53G	ENSP00000326060:W93G	W	+	1	0	CRHR1	41254537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.352000	0.79404	2.164000	0.68074	0.533000	0.62120	TGG		0.642	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			G	43898756	T	G	43898756	3	3	264	1	0	0	0	0	1	0	0	0	3873	1580	55	5	291	5	CRHR1	17	43898756	Missense_Mutation	SNP	T	TCGA-B4-5844-01A-11D-1669-08	2556991	43898756	37296454	62	15943											
TTLL6	284076	broad.mit.edu	37	17	46865173	46865173	+	Splice_Site	SNP	C	C	T	rs374777398		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:46865173C>T	ENST00000393382.3	-	11	1730	c.1589G>A	c.(1588-1590)cGg>cAg	p.R530Q	TTLL6_ENST00000433608.2_Splice_Site_p.R223Q	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTCTTCCTACCGGGCATACTC	0.542																																																0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	73	73	73		1589,668	5.4	1	17		73	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice	TTLL6	NM_001130918.1,NM_173623.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	530/892,223/585	46865173	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1589+1G>A	17.37:g.46865173C>T				Splice_Site	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481530	0.96307	0.0	1.16E-4	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.38	5.38	0.77491	.	7739.340000	0.00166	U	0.000000	D	0.86581	0.5967	M	0.82193	2.58	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.68353	0.943;0.957;0.786	T	0.71919	-0.4447	9	0.62326	D	0.03	.	18.3115	0.90201	0.0:1.0:0.0:0.0	.	482;283;223	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	Q	530;223;208;482	.	ENSP00000302547:R223Q	R	-	2	0	TTLL6	44220172	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.708000	0.68377	2.694000	0.91930	0.555000	0.69702	CGG		0.542	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623	Missense_Mutation	T	46865173	C	T	46865173	5	4	264	1	0	0	0	0	0	0	1	0	16736	666	23	1	1106	1	TTLL6	17	46865173	Splice_Site	SNP	C	TCGA-B4-5844-01A-11D-1669-08	2966417	46865173	34330037	63	15944											
ANKFN1	162282	broad.mit.edu	37	17	54535324	54535325	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:54535324_54535325insAA	ENST00000318698.2	+	13	1585_1586	c.1550_1551insAA	c.(1549-1554)gcaacafs	p.T518fs	ANKFN1_ENST00000566473.2_Frame_Shift_Ins_p.T518fs	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	518								p.A517E(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATGCTCGCAGCAACAGCACAGC	0.46																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1551_1552dupAA	17.37:g.54535325_54535326dupAA	ENSP00000321627:p.Thr518fs			Frame_Shift_Ins	INS	ENST00000318698.2	37	CCDS32686.1																																																																																				0.46	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		AA	54535325	-	AA	54535324	7	5	264	1	0	1	1	0	0	0	0	0	625	710	25	0	1600	0	ANKFN1	17	54535324	Frame_Shift_Ins	INS	-	TCGA-B4-5844-01A-11D-1669-08	7670151	54535324	26659886	64	15945											
CD300A	11314	broad.mit.edu	37	17	72469738	72469738	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:72469738A>C	ENST00000360141.3	+	2	392	c.104A>C	c.(103-105)cAg>cCg	p.Q35P	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	35	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CTGAGTGTGCAGTGTCCCTAT	0.542																																																0													87	84	85					17																	72469738		2203	4300	6503	SO:0001583	missense	11314			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.104A>C	17.37:g.72469738A>C	ENSP00000353259:p.Gln35Pro		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	A	9.669	1.146286	0.21288	.	.	ENSG00000167851	ENST00000360141	T	0.62788	0.0	4.06	0.381	0.16228	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.793260	0.10555	N	0.660925	T	0.68824	0.3043	L	0.56280	1.765	0.37011	D	0.895711	D	0.89917	1.0	D	0.75020	0.985	T	0.66814	-0.5828	10	0.62326	D	0.03	.	3.7594	0.08598	0.5716:0.2023:0.2261:0.0	.	35	Q9UGN4	CLM8_HUMAN	P	35	ENSP00000353259:Q35P	ENSP00000353259:Q35P	Q	+	2	0	CD300A	69981333	0.998000	0.40836	0.061000	0.19648	0.018000	0.09664	0.598000	0.24074	-0.068000	0.12953	0.254000	0.18369	CAG		0.542	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		C	72469738	A	C	72469738	3	2	264	1	0	0	0	0	1	0	0	0	2998	188	7	5	110	5	CD300A	17	72469738	Missense_Mutation	SNP	A	TCGA-B4-5844-01A-11D-1669-08	17934414	72469738	8725472	65	15946											
ATP8B3	148229	broad.mit.edu	37	19	1809703	1809703	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:1809703C>T	ENST00000310127.6	-	4	579	c.341G>A	c.(340-342)cGt>cAt	p.R114H	ATP8B3_ENST00000525591.1_Missense_Mutation_p.R61H|ATP8B3_ENST00000526092.2_Missense_Mutation_p.R61H|ATP8B3_ENST00000539485.1_Missense_Mutation_p.R114H	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	114					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGTAGGCACGGTTGTTGGC	0.632																																																0													55	64	61					19																	1809703		1980	4151	6131	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.341G>A	19.37:g.1809703C>T	ENSP00000311336:p.Arg114His		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	CCDS45901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.234|8.234	0.805380|0.805380	0.16467|0.16467	.|.	.|.	ENSG00000130270|ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339|ENST00000533993	T;T;T;T|.	0.74842|.	-0.88;-0.88;-0.88;-0.88|.	4.44|4.44	0.99|0.99	0.19807|0.19807	.|.	0.338800|.	0.25890|.	N|.	0.027622|.	T|T	0.33118|0.33118	0.0852|0.0852	L|L	0.31371|0.31371	0.925|0.925	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;P;P|.	0.71870|.	0.975;0.791;0.877|.	T|T	0.31280|0.31280	-0.9949|-0.9949	10|6	0.62326|0.87932	D|D	0.03|0	.|.	6.18|6.18	0.20465|0.20465	0.0:0.6644:0.1552:0.1803|0.0:0.6644:0.1552:0.1803	.|.	61;114;61|.	F5H3R9;O60423;Q7Z485|.	.;AT8B3_HUMAN;.|.	H|M	114;114;61;61;61|77	ENSP00000311336:R114H;ENSP00000443574:R114H;ENSP00000437115:R61H;ENSP00000445204:R61H|.	ENSP00000311336:R114H|ENSP00000444334:V77M	R|V	-|-	2|1	0|0	ATP8B3|ATP8B3	1760703|1760703	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.258000|0.258000	0.18387|0.18387	0.303000|0.303000	0.22785|0.22785	-0.291000|-0.291000	0.09656|0.09656	CGT|GTG		0.632	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		T	1809703	C	T	1809703	3	4	264	1	0	0	0	0	1	0	0	0	1196	536	19	1	3713	1	ATP8B3	19	1809703	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08		1809703	57319280	66	15947											
CYP4F11	57834	broad.mit.edu	37	19	16032977	16032977	+	Splice_Site	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:16032977C>A	ENST00000402119.4	-	8	1412		c.e8-1		CYP4F11_ENST00000591841.1_Splice_Site|CYP4F11_ENST00000248041.8_Splice_Site|CYP4F11_ENST00000326742.8_Splice_Site	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTGTCATGGCCTGAGGGGCAG	0.567																																																0													80	72	75					19																	16032977		2203	4300	6503	SO:0001630	splice_region_variant	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.986-1G>T	19.37:g.16032977C>A				Splice_Site	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	.	16.29	3.080949	0.55753	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	.	.	.	2.77	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2762	0.49168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP4F11	15893977	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	6.559000	0.73946	1.531000	0.49152	0.484000	0.47621	.		0.567	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187	Intron	A	16032977	C	A	16032977	5	1	264	1	0	0	0	0	0	0	1	0	4188	695	24	4	609	4	CYP4F11	19	16032977	Splice_Site	SNP	C	TCGA-B4-5844-01A-11D-1669-08	14223274	16032977	43096006	67	15948	125	2									
CYP4F11	57834	broad.mit.edu	37	19	16032978	16032978	+	Splice_Site	SNP	T	T	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:16032978T>A	ENST00000402119.4	-	8	1412		c.e8-2		CYP4F11_ENST00000591841.1_Splice_Site|CYP4F11_ENST00000248041.8_Splice_Site|CYP4F11_ENST00000326742.8_Splice_Site	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTCATGGCCTGAGGGGCAGC	0.567																																																0													78	71	74					19																	16032978		2203	4300	6503	SO:0001630	splice_region_variant	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.986-2A>T	19.37:g.16032978T>A				Splice_Site	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	.	16.22	3.062670	0.55432	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	.	.	.	2.77	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9655	0.35874	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP4F11	15893978	1.000000	0.71417	0.988000	0.46212	0.887000	0.51463	6.719000	0.74718	1.254000	0.44035	0.397000	0.26171	.		0.567	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187	Intron	A	16032978	T	A	16032978	5	1	264	1	0	0	0	0	0	0	1	0	4188	1594	55	5	610	5	CYP4F11	19	16032978	Splice_Site	SNP	T	TCGA-B4-5844-01A-11D-1669-08	1	16032978	43096005	68	15949	125	2									
EPS15L1	58513	broad.mit.edu	37	19	16528867	16528867	+	Silent	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:16528867G>A	ENST00000248070.6	-	11	1138	c.999C>T	c.(997-999)ttC>ttT	p.F333F	EPS15L1_ENST00000535753.2_Silent_p.F333F|EPS15L1_ENST00000597937.1_Silent_p.F333F|EPS15L1_ENST00000594975.1_Silent_p.F333F|EPS15L1_ENST00000455140.2_Silent_p.F333F|EPS15L1_ENST00000602009.1_Silent_p.F179F	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	333	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TAGCTAACGCGAATTGGTCTT	0.557											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													227	164	185					19																	16528867		2203	4300	6503	SO:0001819	synonymous_variant	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.999C>T	19.37:g.16528867G>A		711	A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	CCDS32944.1																																																																																				0.557	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		A	16528867	G	A	16528867	2	1	264	1	0	0	0	0	0	0	0	1	5195	1049	37	1		1	EPS15L1	19	16528867	Silent	SNP	G	TCGA-B4-5844-01A-11D-1669-08	495889	16528867	42600116	69	15950											
ZNF536	9745	broad.mit.edu	37	19	30936076	30936076	+	Missense_Mutation	SNP	G	G	T	rs568730030		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:30936076G>T	ENST00000355537.3	+	2	1754	c.1607G>T	c.(1606-1608)gGc>gTc	p.G536V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	536					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGGAACATGGCTTCTTGTCT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		16852	0.0		0.0	False		,,,				2504	0.001															0													59	65	63					19																	30936076		2203	4300	6503	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1607G>T	19.37:g.30936076G>T	ENSP00000347730:p.Gly536Val		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256823	0.22965	.	.	ENSG00000198597	ENST00000355537	T	0.42900	0.96	5.53	5.53	0.82687	.	0.163771	0.56097	D	0.000040	T	0.31575	0.0801	L	0.36672	1.1	0.58432	D	0.999999	P;P	0.35745	0.518;0.518	B;B	0.26693	0.072;0.072	T	0.11084	-1.0602	10	0.12430	T	0.62	-27.221	19.4573	0.94900	0.0:0.0:1.0:0.0	.	536;536	A7E228;O15090	.;ZN536_HUMAN	V	536	ENSP00000347730:G536V	ENSP00000347730:G536V	G	+	2	0	ZNF536	35627916	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.747000	0.68689	2.582000	0.87167	0.655000	0.94253	GGC		0.587	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		T	30936076	G	T	30936076	3	4	264	1	0	0	0	0	1	0	0	0	17979	1203	42	4	1609	4	ZNF536	19	30936076	Missense_Mutation	SNP	G	TCGA-B4-5844-01A-11D-1669-08	14407209	30936076	28192907	70	15951											
CEACAM5	1048	broad.mit.edu	37	19	42221598	42221598	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:42221598A>C	ENST00000221992.6	+	5	1297	c.1183A>C	c.(1183-1185)Atc>Ctc	p.I395L	CEACAM5_ENST00000405816.1_Missense_Mutation_p.I395L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.I394L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	395	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGAGTGTGGAATCCAGAACAA	0.522																																																0													214	199	204					19																	42221598		2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1183A>C	19.37:g.42221598A>C	ENSP00000221992:p.Ile395Leu		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.97|10.97	1.502456|1.502456	0.26949|0.26949	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816|ENST00000398599	T;T|.	0.67698|.	-0.28;-0.28|.	2.45|2.45	-1.17|-1.17	0.09648|0.09648	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.52917|0.52917	0.1764|0.1764	M|M	0.80422|0.80422	2.495|2.495	0.09310|0.09310	N|N	1|1	P;B|.	0.36768|.	0.569;0.002|.	B;B|.	0.42030|.	0.373;0.023|.	T|T	0.50833|0.50833	-0.8781|-0.8781	9|5	0.56958|.	D|.	0.05|.	.|.	5.7696|5.7696	0.18245|0.18245	0.4467:0.0:0.5533:0.0|0.4467:0.0:0.5533:0.0	.|.	395;395|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	L|T	395|390	ENSP00000221992:I395L;ENSP00000385072:I395L|.	ENSP00000221992:I395L|.	I|N	+|+	1|2	0|0	CEACAM5|CEACAM5	46913438|46913438	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.088000|-0.088000	0.11198|0.11198	-0.202000|-0.202000	0.10268|0.10268	0.473000|0.473000	0.43528|0.43528	ATC|AAT		0.522	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		C	42221598	A	C	42221598	3	2	264	1	0	0	0	0	1	0	0	0	3197	101	4	5	1201	5	CEACAM5	19	42221598	Missense_Mutation	SNP	A	TCGA-B4-5844-01A-11D-1669-08	11285522	42221598	16907385	71	15952											
C19orf41	126123	broad.mit.edu	37	19	50657913	50657913	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:50657913C>G	ENST00000293405.3	-	6	567	c.567G>C	c.(565-567)ttG>ttC	p.L189F		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	189						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TGAGGATGCCCAACAGCGCCT	0.617																																																0													131	153	146					19																	50657913		2111	4224	6335	SO:0001583	missense	126123			AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"-"	28518	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 41"	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.567G>C	19.37:g.50657913C>G	ENSP00000293405:p.Leu189Phe		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	CCDS12792.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.576|3.576	-0.086640|-0.086640	0.07097|0.07097	.|.	.|.	ENSG00000161652|ENSG00000161652	ENST00000293405|ENST00000377000	T|.	0.44881|.	0.91|.	3.43|3.43	-4.9|-4.9	0.03094|0.03094	.|.	.|.	.|.	.|.	.|.	T|T	0.17619|0.17619	0.0423|0.0423	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.35699|0.35699	-0.9778|-0.9778	9|6	0.30854|0.87932	T|D	0.27|0	.|.	6.5454|6.5454	0.22402|0.22402	0.4192:0.3258:0.255:0.0|0.4192:0.3258:0.255:0.0	.|.	189|.	Q6UXV1|.	IZUM2_HUMAN|.	F|S	189|154	ENSP00000293405:L189F|.	ENSP00000293405:L189F|ENSP00000366199:W154S	L|W	-|-	3|2	2|0	IZUMO2|IZUMO2	55349725|55349725	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.064000|0.064000	0.16182|0.16182	-1.261000|-1.261000	0.02855|0.02855	-0.708000|-0.708000	0.05015|0.05015	0.305000|0.305000	0.20034|0.20034	TTG|TGG		0.617	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		G	50657913	C	G	50657913	3	3	264	1	0	0	0	0	1	0	0	0	1926	593	21	4	106	4	C19orf41	19	50657913	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08	8436315	50657913	8471070	72	15953											
CHGB	1114	broad.mit.edu	37	20	5903084	5903084	+	Silent	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr20:5903084C>T	ENST00000378961.4	+	4	498	c.294C>T	c.(292-294)tcC>tcT	p.S98S		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	98						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCCACGAGTCCTCCAGCAGGG	0.537																																																0													44	45	45					20																	5903084		2203	4300	6503	SO:0001819	synonymous_variant	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.294C>T	20.37:g.5903084C>T			A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	CCDS13092.1																																																																																				0.537	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		T	5903084	C	T	5903084	2	4	264	1	0	0	0	0	0	0	0	1	3341	668	24	2		2	CHGB	20	5903084	Silent	SNP	C	TCGA-B4-5844-01A-11D-1669-08		5903084	57122436	73	15954											
BRWD1	54014	broad.mit.edu	37	21	40582046	40582046	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr21:40582046T>C	ENST00000333229.2	-	36	4399	c.4072A>G	c.(4072-4074)Atg>Gtg	p.M1358V	BRWD1_ENST00000380800.3_Missense_Mutation_p.M1358V|BRWD1_ENST00000342449.3_Missense_Mutation_p.M1358V	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1358	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCAAAATCCATTGGGGTATCT	0.353																																					Melanoma(170;988 1986 4794 16843 39731)											0													84	84	84					21																	40582046		2202	4300	6502	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4072A>G	21.37:g.40582046T>C	ENSP00000330753:p.Met1358Val		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.63|19.63	3.864071|3.864071	0.71949|0.71949	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.26067|.	1.76;1.76;1.76|.	6.04|6.04	4.87|4.87	0.63330|0.63330	Bromodomain (6);Bromodomain, conserved site (1);|.	0.055336|.	0.64402|.	D|.	0.000001|.	D|D	0.85279|0.85279	0.5660|0.5660	H|H	0.94345|0.94345	3.525|3.525	0.80722|0.80722	D|D	1|1	P;P;P|.	0.50819|.	0.939;0.869;0.932|.	B;B;B|.	0.43536|.	0.263;0.263;0.423|.	D|D	0.88655|0.88655	0.3185|0.3185	10|5	0.62326|.	D|.	0.03|.	-11.3699|-11.3699	13.3848|13.3848	0.60789|0.60789	0.0:0.0:0.1314:0.8686|0.0:0.0:0.1314:0.8686	.|.	1358;1358;1358|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	V|S	1358;1358;1358;314|295	ENSP00000330753:M1358V;ENSP00000344333:M1358V;ENSP00000370178:M1358V|.	ENSP00000330753:M1358V|.	M|N	-|-	1|2	0|0	BRWD1|BRWD1	39503916|39503916	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.996000|0.996000	0.88848|0.88848	7.579000|7.579000	0.82511|0.82511	1.073000|1.073000	0.40885|0.40885	0.460000|0.460000	0.39030|0.39030	ATG|AAT		0.353	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		C	40582046	T	C	40582046	3	2	264	1	0	0	0	0	1	0	0	0	1527	1493	52	3	3157	3	BRWD1	21	40582046	Missense_Mutation	SNP	T	TCGA-B4-5844-01A-11D-1669-08		40582046	7547849	74	15955											
RPL3	6122	broad.mit.edu	37	22	39711444	39711444	+	Silent	SNP	A	A	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr22:39711444A>T	ENST00000216146.4	-	5	791	c.618T>A	c.(616-618)ccT>ccA	p.P206P	SNORD83A_ENST00000386747.1_RNA|SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.P154P	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	206					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	CTTGGTTCACAGGTACCTGCT	0.587																																																0													92	82	86					22																	39711444		2203	4300	6503	SO:0001819	synonymous_variant	6122			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.618T>A	22.37:g.39711444A>T			B2RDV9|Q15548|Q5I0G0	Silent	SNP	ENST00000216146.4	37	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948814	0.34377	.	.	ENSG00000100316	ENST00000427905	.	.	.	5.32	-3.02	0.05446	.	.	.	.	.	T	0.38401	0.1039	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32025	-0.9922	4	.	.	.	.	1.4301	0.02332	0.3502:0.111:0.3214:0.2174	.	.	.	.	S	238	.	.	C	-	1	0	RPL3	38041390	0.258000	0.24033	0.960000	0.40013	0.962000	0.63368	-0.271000	0.08572	-0.536000	0.06298	0.379000	0.24179	TGT		0.587	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		T	39711444	A	T	39711444	2	4	264	1	0	0	0	0	0	0	0	1	13585	175	7	5		5	RPL3	22	39711444	Silent	SNP	A	TCGA-B4-5844-01A-11D-1669-08		39711444	11593122	75	15956											
MOV10L1	54456	broad.mit.edu	37	22	50552903	50552903	+	Silent	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr22:50552903C>T	ENST00000262794.5	+	7	1061	c.978C>T	c.(976-978)gaC>gaT	p.D326D	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.D326D|MOV10L1_ENST00000395858.3_Silent_p.D326D|MOV10L1_ENST00000540615.1_Silent_p.D306D	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	326					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGATAAAGACCAGATGTGCC	0.368																																																0													83	83	83					22																	50552903		2203	4300	6503	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.978C>T	22.37:g.50552903C>T			A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	CCDS14084.1																																																																																				0.368	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		T	50552903	C	T	50552903	2	4	264	1	0	0	0	0	0	0	0	1	9721	506	18	2		2	MOV10L1	22	50552903	Silent	SNP	C	TCGA-B4-5844-01A-11D-1669-08	10841459	50552903	751663	76	15957											
PLXNB2	23654	broad.mit.edu	37	22	50728367	50728370	+	Frame_Shift_Del	DEL	TGTG	TGTG	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr22:50728367_50728370delTGTG	ENST00000449103.1	-	3	784_787	c.644_647delCACA	c.(643-648)acacagfs	p.TQ215fs	PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.TQ215fs			O15031	PLXB2_HUMAN	plexin B2	215	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACGAACTGCTGTGTGTTGGTGGA	0.627																																																0																																										SO:0001589	frameshift_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.644_647delCACA	22.37:g.50728367_50728370delTGTG	ENSP00000409171:p.Thr215fs		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Del	DEL	ENST00000449103.1	37	CCDS43035.1																																																																																				0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		-	50728370	TGTG	-	50728367	7	5	264	1	0	1	0	1	0	0	0	0	12126	1580	55	0	5009	0	PLXNB2	22	50728367	Frame_Shift_Del	DEL	TGTG	TCGA-B4-5844-01A-11D-1669-08	175464	50728367	576199	77	15958											
TEX11	56159	broad.mit.edu	37	X	69774533	69774533	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chrX:69774533T>G	ENST00000395889.2	-	27	2458	c.2303A>C	c.(2302-2304)cAt>cCt	p.H768P	TEX11_ENST00000344304.3_Missense_Mutation_p.H768P|TEX11_ENST00000374320.2_Missense_Mutation_p.H443P|TEX11_ENST00000374333.2_Missense_Mutation_p.H753P	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	768					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGTTTCTAAATGAGGCAACTC	0.368																																																0													87	74	78					X																	69774533		2203	4300	6503	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2303A>C	X.37:g.69774533T>G	ENSP00000379226:p.His768Pro		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	8.494	0.862722	0.17178	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.46063	1.47;1.47;0.88;1.47	4.43	1.84	0.25277	.	0.604578	0.16311	N	0.220006	T	0.24967	0.0606	L	0.29908	0.895	0.09310	N	1	P;P	0.43094	0.799;0.697	B;B	0.37833	0.259;0.133	T	0.08330	-1.0727	9	.	.	.	0.0132	5.3366	0.15961	0.0:0.1001:0.1745:0.7254	.	753;768	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	P	753;768;443;768	ENSP00000363453:H753P;ENSP00000379226:H768P;ENSP00000363440:H443P;ENSP00000340995:H768P	.	H	-	2	0	TEX11	69691258	0.716000	0.27956	0.357000	0.25798	0.729000	0.41735	2.016000	0.40971	0.146000	0.19002	0.486000	0.48141	CAT		0.368	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			G	69774533	T	G	69774533	3	3	264	1	0	0	0	0	1	0	0	0	15779	1464	51	5	539	5	TEX11	23	69774533	Missense_Mutation	SNP	T	TCGA-B4-5844-01A-11D-1669-08		69774533	85496027	78	15959											
ATRX	546	broad.mit.edu	37	X	76919038	76919038	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chrX:76919038delT	ENST00000373344.5	-	12	4167	c.3953delA	c.(3952-3954)aatfs	p.N1318fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1280fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1318	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATTGACTTGATTTTTTGCTTC	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											51	43	45					X																	76919038		2202	4296	6498	SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3953delA	X.37:g.76919038delT	ENSP00000362441:p.Asn1318fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		-	76919038	T	-	76919038	7	5	264	1	0	1	0	1	0	0	0	0	1208	1493	52	0	3621	0	ATRX	23	76919038	Frame_Shift_Del	DEL	T	TCGA-B4-5844-01A-11D-1669-08	7144505	76919038	78351522	79	15960											
PCDH11X	27328	broad.mit.edu	37	X	91134175	91134175	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chrX:91134175C>T	ENST00000373094.1	+	2	3781	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	PCDH11X_ENST00000361724.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S979F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S979F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S979F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S979F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	979					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACTCTATCTCCAAGTGTTCC	0.512																																					NSCLC(38;925 1092 2571 38200 45895)											0													271	208	229					X																	91134175		2203	4300	6503	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2936C>T	X.37:g.91134175C>T	ENSP00000362186:p.Ser979Phe		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428825	0.62844	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.35	5.35	0.76521	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	M	0.75777	2.31	0.51767	D	0.999937	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;0.997;0.999	T	0.66646	-0.5871	10	0.87932	D	0	.	16.9575	0.86263	0.0:1.0:0.0:0.0	.	979;979;979;979;979;979;979;979	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	F	979	ENSP00000378746:S979F;ENSP00000362186:S979F;ENSP00000362189:S979F;ENSP00000355040:S979F;ENSP00000362180:S979F;ENSP00000423762:S979F;ENSP00000355105:S979F;ENSP00000384758:S979F;ENSP00000298274:S979F	ENSP00000298274:S979F	S	+	2	0	PCDH11X	91020831	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.209000	0.77916	2.211000	0.71520	0.600000	0.82982	TCC		0.512	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		T	91134175	C	T	91134175	3	4	264	1	0	0	0	0	1	0	0	0	11510	855	30	2	2942	2	PCDH11X	23	91134175	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08	14215137	91134175	64136385	80	15961											
RGAG1	57529	broad.mit.edu	37	X	109694660	109694660	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chrX:109694660T>A	ENST00000465301.2	+	3	1061	c.815T>A	c.(814-816)aTa>aAa	p.I272K	RGAG1_ENST00000540313.1_Missense_Mutation_p.I272K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	272										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCCTCACTGATAATGTCAGCT	0.498																																																0													146	125	132					X																	109694660		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.815T>A	X.37:g.109694660T>A	ENSP00000419786:p.Ile272Lys		Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805895	0.50421	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.59364	0.27;0.27	3.91	3.91	0.45181	.	0.000000	0.40144	N	0.001170	T	0.58148	0.2102	N	0.19112	0.55	0.43919	D	0.996568	D	0.89917	1.0	D	0.85130	0.997	T	0.55611	-0.8114	9	.	.	.	-24.8719	10.1519	0.42799	0.0:0.0:0.0:1.0	.	272	Q8NET4	RGAG1_HUMAN	K	272	ENSP00000419786:I272K;ENSP00000441452:I272K	.	I	+	2	0	RGAG1	109581316	1.000000	0.71417	0.994000	0.49952	0.633000	0.38033	2.266000	0.43320	1.756000	0.51951	0.486000	0.48141	ATA		0.498	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		A	109694660	T	A	109694660	3	1	264	1	0	0	0	0	1	0	0	0	13280	1406	49	5	817	5	RGAG1	23	109694660	Missense_Mutation	SNP	T	TCGA-B4-5844-01A-11D-1669-08	18560485	109694660	45575900	81	15962											
UBE2NL	389898	broad.mit.edu	37	X	142967630	142967630	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chrX:142967630C>T	ENST00000370494.1	+	1	458	c.428C>T	c.(427-429)gCa>gTa	p.A143V		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	143						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCTAGAGCATGGACTAGG	0.428																																																0													131	108	115					X																	142967630		2203	4300	6503	SO:0001583	missense	389898					Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.428C>T	X.37:g.142967630C>T	ENSP00000359525:p.Ala143Val		E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	C	3.871	-0.027895	0.07589	.	.	ENSG00000102069	ENST00000370494	T	0.38401	1.14	1.06	1.06	0.20224	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.31312	U	0.007878	T	0.29556	0.0737	L	0.57130	1.785	0.37965	D	0.933097	B	0.31503	0.326	B	0.32289	0.143	T	0.25293	-1.0136	10	0.72032	D	0.01	-0.6883	5.2487	0.15510	0.0:1.0:0.0:0.0	.	143	Q5JXB2	UE2NL_HUMAN	V	143	ENSP00000359525:A143V	ENSP00000359525:A143V	A	+	2	0	UBE2NL	142795296	1.000000	0.71417	0.999000	0.59377	0.113000	0.19764	4.562000	0.60816	0.846000	0.35142	0.181000	0.17075	GCA		0.428	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		T	142967630	C	T	142967630	3	4	264	1	0	0	0	0	1	0	0	0	16872	710	25	2	430	2	UBE2NL	23	142967630	Missense_Mutation	SNP	C	TCGA-B4-5844-01A-11D-1669-08	33272970	142967630	12302930	82	15963											
PRAMEF1	65121	broad.mit.edu	37	1	12853441	12853441	+	Missense_Mutation	SNP	C	C	A	rs75270454		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:12853441C>A	ENST00000332296.7	+	2	168	c.65C>A	c.(64-66)gCc>gAc	p.A22D	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	22					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)			p.A22D(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		AGAGACCAGGCCTTGTCCATC	0.562																																																2	Substitution - Missense(2)	kidney(2)											71	79	76					1																	12853441		2202	4294	6496	SO:0001583	missense	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.65C>A	1.37:g.12853441C>A	ENSP00000332134:p.Ala22Asp		Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	4.513	0.095223	0.08681	.	.	ENSG00000116721	ENST00000332296	T	0.18016	2.24	1.64	-2.04	0.07343	.	0.350802	0.29537	N	0.011869	T	0.18173	0.0436	M	0.73217	2.22	0.09310	N	1	P	0.48089	0.905	P	0.48400	0.576	T	0.11397	-1.0589	10	0.48119	T	0.1	.	1.0347	0.01546	0.2203:0.4057:0.217:0.157	.	22	O95521	PRAM1_HUMAN	D	22	ENSP00000332134:A22D	ENSP00000332134:A22D	A	+	2	0	PRAMEF1	12776028	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.630000	0.05502	-0.611000	0.05709	-3.517000	0.00032	GCC		0.562	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		A	12853441	C	A	12853441	3	1	265	1	0	0	0	0	1	0	0	0	12430	739	26	4	67	4	PRAMEF1	1	12853441	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10		12853441	236397180	1	15964											
ZNF684	127396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	41007325	41007325	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:41007325G>A	ENST00000372699.3	+	4	432	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ZNF684_ENST00000372697.3_Missense_Mutation_p.E61K|ZNF684_ENST00000493756.1_Intron|ZNF684_ENST00000372696.3_Missense_Mutation_p.E61K	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E61K(1)		breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CCTCAAGGTAGAGCAAGGACA	0.498																																																1	Substitution - Missense(1)	kidney(1)											116	101	106					1																	41007325		2203	4300	6503	SO:0001583	missense	127396				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"Zinc fingers, C2H2-type", "-"	28418	protein-coding gene	gene with protein product	"hypothetical protein MGC27466"					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.181G>A	1.37:g.41007325G>A	ENSP00000361784:p.Glu61Lys		Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	CCDS454.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058208	0.36277	.	.	ENSG00000117010	ENST00000372699;ENST00000372697;ENST00000372696	T;T;T	0.56776	5.38;0.44;0.44	3.84	-0.292	0.12839	Krueppel-associated box (3);	0.810357	0.10059	N	0.721164	T	0.50222	0.1603	M	0.86651	2.83	0.09310	N	1	B	0.24186	0.099	B	0.16722	0.016	T	0.54583	-0.8272	10	0.72032	D	0.01	.	0.9765	0.01426	0.2116:0.1813:0.4207:0.1863	.	61	Q5T5D7	ZN684_HUMAN	K	61	ENSP00000361784:E61K;ENSP00000361782:E61K;ENSP00000361781:E61K	ENSP00000361781:E61K	E	+	1	0	ZNF684	40779912	0.014000	0.17966	0.011000	0.14972	0.273000	0.26683	0.321000	0.19558	-0.038000	0.13624	0.655000	0.94253	GAG		0.498	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		A	41007325	G	A	41007325	3	1	265	1	0	0	0	0	1	0	0	0	18096	943	33	2	191	2	ZNF684	1	41007325	Missense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	28153884	41007325	208243296	2	15965											
NRD1	4898	hgsc.bcm.edu	37	1	52306082	52306082	+	Missense_Mutation	SNP	A	A	T	rs62639317		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:52306082A>T	ENST00000354831.7	-	2	635	c.446T>A	c.(445-447)gTg>gAg	p.V149E	NRD1_ENST00000539524.1_Missense_Mutation_p.V17E|NRD1_ENST00000352171.7_Missense_Mutation_p.V149E|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.V17E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ttcttcctccacctcctcttc	0.378																																																0													157	133	141					1																	52306082		2203	4300	6503	SO:0001583	missense	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.446T>A	1.37:g.52306082A>T	ENSP00000346890:p.Val149Glu		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	CCDS559.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.215253	0.00289	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.28069	1.63;3.68;1.81;1.69	5.57	4.43	0.53597	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.712002	0.13833	N	0.359629	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27434	-1.0074	10	0.02654	T	1	-4.1153	9.7675	0.40570	0.2844:0.0:0.0:0.7156	rs62639317	149;149;149	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	E	149;149;17;149;17	ENSP00000262679:V149E;ENSP00000346890:V149E;ENSP00000444416:V17E;ENSP00000442262:V17E	ENSP00000262679:V149E	V	-	2	0	NRD1	52078670	0.296000	0.24398	0.018000	0.16275	0.061000	0.15899	1.612000	0.36889	0.922000	0.37019	-0.542000	0.04241	GTG		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		T	52306082	A	T	52306082	3	4	265	1	0	0	0	0	1	0	0	0	10647	159	6	5	3341	5	NRD1	1	52306082	Missense_Mutation	SNP	A	TCGA-B8-4143-01A-01D-1806-10	11298757	52306082	196944539	3	15966											
GNAT2	2780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110151406	110151406	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:110151406T>C	ENST00000351050.3	-	4	494	c.308A>G	c.(307-309)gAc>gGc	p.D103G		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	103					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.D103G(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTGTCGCCCGTCATCCTGTAA	0.493																																																1	Substitution - Missense(1)	kidney(1)											77	65	69					1																	110151406		2203	4300	6503	SO:0001583	missense	2780			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.308A>G	1.37:g.110151406T>C	ENSP00000251337:p.Asp103Gly			Missense_Mutation	SNP	ENST00000351050.3	37	CCDS803.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132006	0.56828	.	.	ENSG00000134183	ENST00000351050	T	0.44083	0.93	4.49	-0.8	0.10897	G protein alpha subunit, helical insertion (2);	0.652924	0.15331	N	0.267991	T	0.46870	0.1415	M	0.87269	2.87	0.39607	D	0.969823	P	0.35872	0.525	P	0.52066	0.689	T	0.56226	-0.8014	10	0.72032	D	0.01	.	8.1547	0.31162	0.0:0.0744:0.4335:0.4921	.	103	P19087	GNAT2_HUMAN	G	103	ENSP00000251337:D103G	ENSP00000251337:D103G	D	-	2	0	GNAT2	109952929	0.360000	0.24964	0.001000	0.08648	0.608000	0.37181	2.242000	0.43106	-0.219000	0.10003	0.533000	0.62120	GAC		0.493	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272		C	110151406	T	C	110151406	3	2	265	1	0	0	0	0	1	0	0	0	6514	1667	58	3	776	3	GNAT2	1	110151406	Missense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10	57845324	110151406	139099215	4	15967											
AMPD1	270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	115221022	115221022	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:115221022T>A	ENST00000520113.2	-	8	1138	c.1123A>T	c.(1123-1125)Aag>Tag	p.K375*	AMPD1_ENST00000369538.3_Nonsense_Mutation_p.K371*|AMPD1_ENST00000353928.6_Nonsense_Mutation_p.K342*			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	375					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.K375*(1)|p.K342*(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAAAGTTCCTTTAGGGTCAGA	0.383																																																2	Substitution - Nonsense(2)	kidney(2)											177	169	172					1																	115221022		2203	4300	6503	SO:0001587	stop_gained	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1123A>T	1.37:g.115221022T>A	ENSP00000430075:p.Lys375*		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Nonsense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896960	0.72639	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2149	15.18	0.72947	0.0:0.0:0.0:1.0	.	.	.	.	X	375;371;342	.	ENSP00000316520:K342X	K	-	1	0	AMPD1	115022545	1.000000	0.71417	0.994000	0.49952	0.105000	0.19272	4.134000	0.57990	2.054000	0.61138	0.459000	0.35465	AAG		0.383	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			A	115221022	T	A	115221022	4	1	265	1	0	0	0	0	0	1	0	0	585	1850	64	5	1255	5	AMPD1	1	115221022	Nonsense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10	5069616	115221022	134029599	5	15968											
HIST2H2AC	8338	hgsc.bcm.edu	37	1	149858563	149858563	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:149858563C>T	ENST00000331380.2	+	1	39	c.39C>T	c.(37-39)gcC>gcT	p.A13A	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	13						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGGCCCGCGCCAAGGCCAAGT	0.597																																																0													78	85	83					1																	149858563		2203	4300	6503	SO:0001819	synonymous_variant	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.39C>T	1.37:g.149858563C>T			Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	CCDS937.1																																																																																				0.597	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		T	149858563	C	T	149858563	2	4	265	1	0	0	0	0	0	0	0	1	7180	581	21	2		2	HIST2H2AC	1	149858563	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10	34637541	149858563	99392058	6	15969			1	26		4	4	866	N	C_A	2.464746e-09
HIST2H2AC	8338	broad.mit.edu;hgsc.bcm.edu	37	1	149858593	149858593	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:149858593C>T	ENST00000331380.2	+	1	69	c.69C>T	c.(67-69)ggC>ggT	p.G23G	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	23						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G23G(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCCGCGCTGGCCTCCAGTTCC	0.657																																																1	Substitution - coding silent(1)	kidney(1)											69	76	74					1																	149858593		2203	4299	6502	SO:0001819	synonymous_variant	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.69C>T	1.37:g.149858593C>T			Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	CCDS937.1																																																																																				0.657	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		T	149858593	C	T	149858593	2	4	265	1	0	0	0	0	0	0	0	1	7180	726	26	2		2	HIST2H2AC	1	149858593	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10	30	149858593	99392028	7	15970			1	26		4	4	866	N	C_A	2.464746e-09
HIST2H2AB	317772	hgsc.bcm.edu	37	1	149859101	149859101	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:149859101C>T	ENST00000331128.3	-	1	365	c.366G>A	c.(364-366)gaG>gaA	p.E122E	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCTTGTGACTCTCCGTTTTCT	0.507																																																0													90	92	91					1																	149859101		2203	4300	6503	SO:0001819	synonymous_variant	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"Histones / Replication-dependent"	20508	protein-coding gene	gene with protein product		615014	"histone 2, H2ab"			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.366G>A	1.37:g.149859101C>T				Silent	SNP	ENST00000331128.3	37	CCDS938.1																																																																																				0.507	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		T	149859101	C	T	149859101	2	4	265	1	0	0	0	0	0	0	0	1	7179	912	32	2		2	HIST2H2AB	1	149859101	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10	508	149859101	99391520	8	15971			1	26		4	4	866	N	C_A	2.464746e-09
HIST2H2AB	317772	broad.mit.edu	37	1	149859428	149859428	+	Silent	SNP	A	A	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr1:149859428A>G	ENST00000331128.3	-	1	38	c.39T>C	c.(37-39)gcT>gcC	p.A13A	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	13						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A13A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACTTGGCCTTAGCGCGGGCCT	0.587																																																1	Substitution - coding silent(1)	kidney(1)											56	63	61					1																	149859428		2202	4290	6492	SO:0001819	synonymous_variant	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"Histones / Replication-dependent"	20508	protein-coding gene	gene with protein product		615014	"histone 2, H2ab"			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.39T>C	1.37:g.149859428A>G				Silent	SNP	ENST00000331128.3	37	CCDS938.1																																																																																				0.587	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		G	149859428	A	G	149859428	2	3	265	1	0	0	0	0	0	0	0	1	7179	407	15	3		3	HIST2H2AB	1	149859428	Silent	SNP	A	TCGA-B8-4143-01A-01D-1806-10	327	149859428	99391193	9	15972			1	26		4	4	866	N	C_A	2.464746e-09
PXDN	7837	broad.mit.edu;ucsc.edu	37	2	1652062	1652062	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:1652062C>T	ENST00000252804.4	-	17	3540	c.3490G>A	c.(3490-3492)Gac>Aac	p.D1164N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1164					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D1164N(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATCCCGTGGTCCCGGCCCCGC	0.597																																																1	Substitution - Missense(1)	kidney(1)											81	92	88					2																	1652062		2027	4209	6236	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3490G>A	2.37:g.1652062C>T	ENSP00000252804:p.Asp1164Asn		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148660	0.94603	.	.	ENSG00000130508	ENST00000252804	T	0.73469	-0.75	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.92325	0.7565	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94936	0.8087	10	0.87932	D	0	-61.2495	19.6424	0.95763	0.0:1.0:0.0:0.0	.	1164	Q92626	PXDN_HUMAN	N	1164	ENSP00000252804:D1164N	ENSP00000252804:D1164N	D	-	1	0	PXDN	1631069	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.734000	0.84928	2.645000	0.89757	0.650000	0.86243	GAC		0.597	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		T	1652062	C	T	1652062	3	4	265	1	0	0	0	0	1	0	0	0	12853	855	30	2	977	2	PXDN	2	1652062	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10		1652062	241547311	10	15973											
DYSF	8291	broad.mit.edu	37	2	71825715	71825715	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:71825715T>C	ENST00000258104.3	+	33	3819	c.3542T>C	c.(3541-3543)tTc>tCc	p.F1181S	DYSF_ENST00000410041.1_Missense_Mutation_p.F1199S|DYSF_ENST00000413539.2_Missense_Mutation_p.F1212S|DYSF_ENST00000429174.2_Missense_Mutation_p.F1181S|DYSF_ENST00000409744.1_Missense_Mutation_p.F1168S|DYSF_ENST00000409762.1_Missense_Mutation_p.F1198S|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.F1182S|DYSF_ENST00000394120.2_Missense_Mutation_p.F1182S|DYSF_ENST00000410020.3_Missense_Mutation_p.F1199S|DYSF_ENST00000409582.3_Missense_Mutation_p.F1198S|DYSF_ENST00000409651.1_Missense_Mutation_p.F1213S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1181	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.F1199S(1)|p.F1181S(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCGTCTCCTTCCTGCACCAG	0.597																																																2	Substitution - Missense(2)	kidney(2)											81	71	75					2																	71825715		2203	4300	6503	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3542T>C	2.37:g.71825715T>C	ENSP00000258104:p.Phe1181Ser		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794582	0.90453	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.66	5.66	0.87406	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80747	0.4682	M	0.81802	2.56	0.58432	D	0.999999	D;D;P;D;P;P;P;D;D;D;P;P;D;D	0.61697	0.981;0.99;0.949;0.966;0.742;0.742;0.742;0.972;0.99;0.99;0.911;0.949;0.966;0.985	P;P;P;P;P;P;P;P;P;P;P;P;P;D	0.63113	0.856;0.856;0.786;0.856;0.577;0.577;0.577;0.781;0.856;0.899;0.662;0.786;0.856;0.911	D	0.83661	0.0161	10	0.87932	D	0	-20.9015	13.8382	0.63421	0.0:0.0:0.0:1.0	.	1213;1199;1182;1168;1199;1168;1198;1167;1212;1198;1181;1167;1182;1181	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	S	1212;1198;1198;1181;1181;1213;1182;1168;1182;1199;1199	ENSP00000407046:F1212S;ENSP00000387137:F1198S;ENSP00000386547:F1198S;ENSP00000398305:F1181S;ENSP00000258104:F1181S;ENSP00000386683:F1213S;ENSP00000377678:F1182S;ENSP00000386285:F1168S;ENSP00000386512:F1182S;ENSP00000386881:F1199S;ENSP00000386617:F1199S	ENSP00000258104:F1181S	F	+	2	0	DYSF	71679223	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.823000	0.86660	2.160000	0.67779	0.533000	0.62120	TTC		0.597	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		C	71825715	T	C	71825715	3	2	265	1	0	0	0	0	1	0	0	0	4861	1783	62	3	3864	3	DYSF	2	71825715	Missense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10	70173653	71825715	171373658	11	15974											
ACVR1C	130399	hgsc.bcm.edu	37	2	158443712	158443712	+	Silent	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:158443712C>A	ENST00000243349.8	-	2	651	c.291G>T	c.(289-291)ctG>ctT	p.L97L	ACVR1C_ENST00000409680.3_Silent_p.L47L|ACVR1C_ENST00000335450.7_Silent_p.L97L|ACVR1C_ENST00000348328.5_Silent_p.L97L	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTGGAAGGTGCAGTGTTATGT	0.378																																																0													158	151	153					2																	158443712		2203	4300	6503	SO:0001819	synonymous_variant	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.291G>T	2.37:g.158443712C>A				Silent	SNP	ENST00000243349.8	37	CCDS2205.1																																																																																				0.378	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		A	158443712	C	A	158443712	2	1	265	1	0	0	0	0	0	0	0	1	222	697	25	4		4	ACVR1C	2	158443712	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10	86617997	158443712	84755661	12	15975											
BAZ2B	29994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160240140	160240140	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:160240140C>A	ENST00000392783.2	-	24	4233	c.3738G>T	c.(3736-3738)tgG>tgT	p.W1246C	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Missense_Mutation_p.W1146C|BAZ2B_ENST00000355831.2_Missense_Mutation_p.W1212C|BAZ2B_ENST00000392782.1_Missense_Mutation_p.W1210C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.W1246C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTCTACCACCCATTTATCTC	0.308																																																1	Substitution - Missense(1)	kidney(1)											139	126	130					2																	160240140		1825	4071	5896	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3738G>T	2.37:g.160240140C>A	ENSP00000376534:p.Trp1246Cys		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734077	0.69189	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.63580	0.01;0.0;0.01;-0.05	5.77	5.77	0.91146	.	0.000000	0.35151	U	0.003407	T	0.78848	0.4348	M	0.67397	2.05	0.80722	D	1	B;D	0.89917	0.224;1.0	B;D	0.69142	0.157;0.962	T	0.79157	-0.1919	10	0.87932	D	0	-4.8889	20.3559	0.98840	0.0:1.0:0.0:0.0	.	1210;1246	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	C	1210;1246;1212;1146	ENSP00000376533:W1210C;ENSP00000376534:W1246C;ENSP00000348087:W1212C;ENSP00000339670:W1146C	ENSP00000339670:W1146C	W	-	3	0	BAZ2B	159948386	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.121000	0.50438	2.890000	0.99128	0.585000	0.79938	TGG		0.308	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			A	160240140	C	A	160240140	3	1	265	1	0	0	0	0	1	0	0	0	1332	624	22	4	2824	4	BAZ2B	2	160240140	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	1796428	160240140	82959233	13	15976											
SLC4A10	57282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	162696378	162696378	+	Silent	SNP	A	A	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:162696378A>G	ENST00000446997.1	+	4	450	c.357A>G	c.(355-357)acA>acG	p.T119T	SLC4A10_ENST00000415876.2_Silent_p.T119T|SLC4A10_ENST00000535165.1_Silent_p.T119T|SLC4A10_ENST00000272716.5_Silent_p.T119T|SLC4A10_ENST00000421911.1_Silent_p.T119T|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000375514.5_Silent_p.T130T	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	119					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.T119T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	ACCTTTTCACAGAACTGGATG	0.438																																																2	Substitution - coding silent(2)	kidney(2)											141	142	142					2																	162696378		2122	4254	6376	SO:0001819	synonymous_variant	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.357A>G	2.37:g.162696378A>G			B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	CCDS54411.1																																																																																				0.438	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		G	162696378	A	G	162696378	2	3	265	1	0	0	0	0	0	0	0	1	14657	175	7	3		3	SLC4A10	2	162696378	Silent	SNP	A	TCGA-B8-4143-01A-01D-1806-10	2456238	162696378	80502995	14	15977											
GCA	25801	hgsc.bcm.edu;ucsc.edu	37	2	163204196	163204196	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:163204196A>G	ENST00000437150.2	+	2	297	c.136A>G	c.(136-138)Act>Gct	p.T46A	GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Missense_Mutation_p.T27A|GCA_ENST00000233612.4_Missense_Mutation_p.T27A	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	46					membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						ATATTCAGACACTTATTCCTC	0.438																																																0													94	84	88					2																	163204196		2203	4300	6503	SO:0001583	missense	25801			M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"EF-hand domain containing"	15990	protein-coding gene	gene with protein product		607030	"grancalcin, EF-hand calcium-binding protein"			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.136A>G	2.37:g.163204196A>G	ENSP00000394842:p.Thr46Ala		B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	37	CCDS2218.1	.	.	.	.	.	.	.	.	.	.	A	4.487	0.090370	0.08632	.	.	ENSG00000115271	ENST00000446271;ENST00000429691;ENST00000437150;ENST00000453113;ENST00000233612	D;T;T;D;T	0.87650	-2.28;1.12;-0.82;-1.69;-0.84	4.99	1.19	0.21007	.	1.509370	0.03913	N	0.282316	T	0.70815	0.3267	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59721	-0.7401	10	0.10636	T	0.68	.	5.7801	0.18301	0.6374:0.1406:0.222:0.0	.	46	P28676	GRAN_HUMAN	A	72;27;46;27;27	ENSP00000393218:T72A;ENSP00000412899:T27A;ENSP00000394842:T46A;ENSP00000403805:T27A;ENSP00000233612:T27A	ENSP00000233612:T27A	T	+	1	0	GCA	162912442	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.211000	0.17474	0.036000	0.15547	-2.543000	0.00179	ACT		0.438	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		G	163204196	A	G	163204196	3	3	265	1	0	0	0	0	1	0	0	0	6285	159	6	3	142	3	GCA	2	163204196	Missense_Mutation	SNP	A	TCGA-B8-4143-01A-01D-1806-10	507818	163204196	79995177	15	15978											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179404327	179404327	+	Missense_Mutation	SNP	T	T	G	rs191054704		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:179404327T>G	ENST00000591111.1	-	302	93766	c.93542A>C	c.(93541-93543)gAt>gCt	p.D31181A	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23882A|TTN_ENST00000342992.6_Missense_Mutation_p.D30254A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23757A|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D32822A|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D23949A|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31181	Fibronectin type-III 127. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D30254A(1)|p.D23882A(1)|p.D30252A(1)|p.D23757A(1)|p.D23949A(1)		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)			ACCACCATCATCAGCAGGAGG	0.527													T|||	1	0.000199681	0.0	0.0	5008	,	,		21412	0.001		0.0	False		,,,				2504	0.0															5	Substitution - Missense(5)	kidney(5)											158	152	154					2																	179404327		2091	4204	6295	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93542A>C	2.37:g.179404327T>G	ENSP00000465570:p.Asp31181Ala		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	Missense_Mutation	SNP	ENST00000591111.1	37		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	18.71	3.681750	0.68042	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69342	0.3100	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.74788	-0.3546	9	0.87932	D	0	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	23757;23882;23949;31181	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	30254;23757;23949;23882;23754	ENSP00000343764:D30254A;ENSP00000434586:D23757A;ENSP00000340554:D23949A;ENSP00000352154:D23882A	ENSP00000340554:D23949A	D	-	2	0	TTN	179112573	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	GAT		0.527	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179404327	T	G	179404327	3	3	265	1	0	0	0	0	1	0	0	0	16740	1435	50	5	9558	5	TTN	2	179404327	Missense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10	16200131	179404327	63795046	16	15979											
ANKRD44	91526	broad.mit.edu;ucsc.edu	37	2	197946412	197946412	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:197946412C>T	ENST00000328737.2	-	15	1496	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	ANKRD44_ENST00000477852.1_5'Flank|ANKRD44_ENST00000282272.8_Missense_Mutation_p.E491K|ANKRD44_ENST00000539527.1_Missense_Mutation_p.E427K|ANKRD44_ENST00000337207.5_Missense_Mutation_p.E474K|ANKRD44_ENST00000409153.1_Missense_Mutation_p.E499K|ANKRD44_ENST00000450567.1_Missense_Mutation_p.E474K			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	499								p.E499K(1)|p.E314K(1)|p.E474K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTTCAAGTTCTTCTGAATTA	0.363																																																3	Substitution - Missense(3)	kidney(3)											203	203	203					2																	197946412		2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1420G>A	2.37:g.197946412C>T	ENSP00000331516:p.Glu474Lys		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	C	19.36	3.813474	0.70912	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.65732	2.42;-0.17;-0.13;-0.13;2.42;-0.09;2.42;-0.17	5.36	5.36	0.76844	.	0.281279	0.37393	N	0.002117	T	0.48370	0.1496	N	0.16567	0.415	0.45439	D	0.998415	B;P;P	0.48503	0.001;0.911;0.819	B;B;B	0.44133	0.006;0.364;0.442	T	0.42120	-0.9470	10	0.10636	T	0.68	.	17.2152	0.86941	0.0:1.0:0.0:0.0	.	427;499;517	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	K	314;491;474;474;474;174;499;427	ENSP00000403415:E314K;ENSP00000282272:E491K;ENSP00000331516:E474K;ENSP00000402420:E474K;ENSP00000338794:E474K;ENSP00000416319:E174K;ENSP00000387141:E499K;ENSP00000437825:E427K	ENSP00000282272:E491K	E	-	1	0	ANKRD44	197654657	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.681000	0.61663	2.649000	0.89929	0.563000	0.77884	GAA		0.363	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		T	197946412	C	T	197946412	3	4	265	1	0	0	0	0	1	0	0	0	672	922	32	2	1387	2	ANKRD44	2	197946412	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	18542085	197946412	45252961	17	15980											
EIF4E2	9470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	233431788	233431788	+	Splice_Site	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:233431788G>A	ENST00000258416.3	+	6	1202	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	EIF4E2_ENST00000409514.1_Splice_Site_p.E177K|EIF4E2_ENST00000409394.1_Splice_Site_p.E132K|EIF4E2_ENST00000409167.3_Splice_Site_p.E132K|EIF4E2_ENST00000409495.1_Splice_Site_p.E177K|EIF4E2_ENST00000409098.1_Splice_Site_p.E177K|EIF4E2_ENST00000409322.1_Splice_Site_p.E132K	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	177	7-methylguanosine-containing mRNA cap binding.				cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)	p.E177K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTCTGGTAGGAAGACATTAT	0.507																																																1	Substitution - Missense(1)	kidney(1)											85	82	83					2																	233431788		2203	4300	6503	SO:0001630	splice_region_variant	9470			AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"eukaryotic translation initiation factor 4E-like 3"	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.529-1G>A	2.37:g.233431788G>A			B8ZZJ9|O75349	Missense_Mutation	SNP	ENST00000258416.3	37	CCDS2496.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907023	0.92107	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000409167;ENST00000409322;ENST00000409394;ENST00000454501	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.64	5.64	0.86602	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.83275	0.996;0.996;0.929	T	0.78816	-0.2055	9	.	.	.	-13.2117	17.243	0.87019	0.0:0.0:1.0:0.0	.	132;177;177	B4E1E4;B8ZZJ9;O60573	.;.;IF4E2_HUMAN	K	177;177;177;177;132;132;132;172	ENSP00000258416:E177K;ENSP00000387336:E177K;ENSP00000386996:E177K;ENSP00000386876:E177K;ENSP00000387328:E132K;ENSP00000386424:E132K;ENSP00000386983:E132K;ENSP00000390904:E172K	.	E	+	1	0	EIF4E2	233140032	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.581000	0.98210	2.937000	0.99478	0.650000	0.86243	GAA		0.507	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2	NM_004846	Missense_Mutation	A	233431788	G	A	233431788	5	1	265	1	0	0	0	0	0	0	1	0	5032	1188	41	2	551	2	EIF4E2	2	233431788	Splice_Site	SNP	G	TCGA-B8-4143-01A-01D-1806-10	35485376	233431788	9767585	18	15981											
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238280964	238280964	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:238280964C>T	ENST00000295550.4	-	9	4148	c.3696G>A	c.(3694-3696)agG>agA	p.R1232R	COL6A3_ENST00000409809.1_Silent_p.R1026R|COL6A3_ENST00000392004.3_Silent_p.R1026R|COL6A3_ENST00000346358.4_Silent_p.R1032R|COL6A3_ENST00000392003.2_Silent_p.R825R|COL6A3_ENST00000347401.3_Silent_p.R1031R|COL6A3_ENST00000472056.1_Silent_p.R625R|COL6A3_ENST00000353578.4_Silent_p.R1026R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1232	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1232R(1)|p.R1026R(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGACCACGTCCCTCTTGCCAC	0.542																																																2	Substitution - coding silent(2)	kidney(2)											82	76	78					2																	238280964		2203	4300	6503	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3696G>A	2.37:g.238280964C>T			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238280964	C	T	238280964	2	4	265	1	0	0	0	0	0	0	0	1	3703	622	22	2		2	COL6A3	2	238280964	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10	4849176	238280964	4918409	19	15982											
C2orf85	285093	broad.mit.edu	37	2	242815348	242815348	+	Missense_Mutation	SNP	G	G	C	rs541145009		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr2:242815348G>C	ENST00000343216.3	+	2	1669	c.1641G>C	c.(1639-1641)tgG>tgC	p.W547C		NM_173821.2	NP_776182.2												p.W547C(1)									TCTGGATCTGGGTGTCCATGA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		10437	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											103	114	110					2																	242815348		2098	4195	6293	SO:0001583	missense	0																														ENST00000343216.3:c.1641G>C	2.37:g.242815348G>C	ENSP00000345374:p.Trp547Cys			Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.973480	0.53720	.	.	ENSG00000188011	ENST00000343216	T	0.48201	0.82	2.12	-0.00255	0.14029	.	.	.	.	.	T	0.45677	0.1354	N	0.14661	0.345	0.35766	D	0.820534	D	0.76494	0.999	D	0.79784	0.993	T	0.54139	-0.8338	9	0.87932	D	0	-12.531	7.6526	0.28356	0.0:0.5237:0.4763:0.0	.	547	Q14D33	CB085_HUMAN	C	547	ENSP00000345374:W547C	ENSP00000345374:W547C	W	+	3	0	C2orf85	242464021	0.003000	0.15002	0.542000	0.28115	0.849000	0.48306	0.242000	0.18087	0.002000	0.14630	0.186000	0.17326	TGG		0.662	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			C	242815348	G	C	242815348	3	2	265	1	0	0	0	0	1	0	0	0	2202	1241	43	4	1647	4	C2orf85	2	242815348	Missense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	4534384	242815348	384025	20	15983											
KIF15	56992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	44847461	44847461	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr3:44847461C>T	ENST00000326047.4	+	16	2103	c.1954C>T	c.(1954-1956)Cat>Tat	p.H652Y	KIF15_ENST00000425755.1_Missense_Mutation_p.H287Y	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	652					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.H652Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAATAAAATTCATGCTGAAAC	0.383																																																1	Substitution - Missense(1)	kidney(1)											71	77	75					3																	44847461		2203	4300	6503	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1954C>T	3.37:g.44847461C>T	ENSP00000324020:p.His652Tyr		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840312	0.91117	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.55760	0.5;0.5;0.5	5.3	5.3	0.74995	.	0.000000	0.52532	D	0.000061	T	0.71108	0.3301	M	0.73598	2.24	0.58432	D	0.999993	D;D	0.71674	0.998;0.998	P;D	0.63957	0.852;0.92	T	0.68409	-0.5416	10	0.32370	T	0.25	.	19.308	0.94171	0.0:1.0:0.0:0.0	.	287;652	C9JKA9;Q9NS87	.;KIF15_HUMAN	Y	652;424;651;287	ENSP00000324020:H652Y;ENSP00000425499:H424Y;ENSP00000389982:H287Y	ENSP00000324020:H652Y	H	+	1	0	KIF15	44822465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.411000	0.80078	2.640000	0.89533	0.655000	0.94253	CAT		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			T	44847461	C	T	44847461	3	4	265	1	0	0	0	0	1	0	0	0	8279	826	29	2	2016	2	KIF15	3	44847461	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10		44847461	153174969	21	15984											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52437163	52437163	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr3:52437163G>C	ENST00000460680.1	-	14	2352	c.1881C>G	c.(1879-1881)taC>taG	p.Y627*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Y609*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y627*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCTTGGGTGAGTATTTCTCCC	0.582			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Nonsense(1)	kidney(1)											101	101	101					3																	52437163		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1881C>G	3.37:g.52437163G>C	ENSP00000417132:p.Tyr627*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494687	0.64186	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368	.	.	.	5.94	3.93	0.45458	.	0.059126	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	4.4847	0.11783	0.3556:0.0:0.6444:0.0	.	.	.	.	X	627;609;128	.	ENSP00000296288:Y609X	Y	-	3	2	BAP1	52412203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.907000	0.28531	1.519000	0.48950	0.655000	0.94253	TAC		0.582	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			C	52437163	G	C	52437163	4	2	265	1	0	0	0	0	0	1	0	0	1311	1024	36	4	324	4	BAP1	3	52437163	Nonsense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	7589702	52437163	145585267	22	15985											
SGEF	26084	hgsc.bcm.edu	37	3	153870723	153870723	+	Splice_Site	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr3:153870723T>A	ENST00000356448.4	+	6	1771		c.e6+2		ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Splice_Site	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26						endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAGCAAAAAGTAAGTGCACTG	0.378																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											0													59	55	56					3																	153870723		1933	4129	6062	SO:0001630	splice_region_variant	26084			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1487+2T>A	3.37:g.153870723T>A			B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Splice_Site	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.584409	0.86748	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7039	0.77563	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF26	155353413	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.930000	0.87610	2.105000	0.64084	0.455000	0.32223	.		0.378	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	Intron	A	153870723	T	A	153870723	5	1	265	1	0	0	0	0	0	0	1	0	14211	1652	57	5	1507	5	SGEF	3	153870723	Splice_Site	SNP	T	TCGA-B8-4143-01A-01D-1806-10	101433560	153870723	44151707	23	15986											
TMEM165	55858	hgsc.bcm.edu;ucsc.edu	37	4	56284067	56284067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr4:56284067delT	ENST00000381334.5	+	4	940	c.707delT	c.(706-708)attfs	p.I236fs	TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Frame_Shift_Del_p.I173fs	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	236					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			ATTTCACCCATTTTTGTTCAA	0.383																																																0													112	110	111					4																	56284067		2203	4300	6503	SO:0001589	frameshift_variant	55858			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.707delT	4.37:g.56284067delT	ENSP00000370736:p.Ile236fs		A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Frame_Shift_Del	DEL	ENST00000381334.5	37	CCDS3499.1																																																																																				0.383	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		-	56284067	T	-	56284067	7	5	265	1	0	1	0	1	0	0	0	0	16085	1493	52	0	721	0	TMEM165	4	56284067	Frame_Shift_Del	DEL	T	TCGA-B8-4143-01A-01D-1806-10		56284067	134870209	24	15987											
UGT2A1	10941	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	70460937	70460937	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr4:70460937C>T	ENST00000503640.1	-	4	1082	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Missense_Mutation_p.A343T|UGT2A1_ENST00000512704.1_Missense_Mutation_p.A299T|UGT2A2_ENST00000457664.2_Missense_Mutation_p.A352T|UGT2A1_ENST00000514019.1_Missense_Mutation_p.A509T	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	343					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.A352T(1)|p.A343T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCTAATGTGGCTGGTTTCTTT	0.378																																																2	Substitution - Missense(2)	kidney(2)											138	129	132					4																	70460937		2203	4300	6503	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1027G>A	4.37:g.70460937C>T	ENSP00000424478:p.Ala343Thr		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487168	0.26686	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.23	4.39	0.52855	.	0.851504	0.10369	N	0.683033	T	0.52757	0.1754	L	0.33710	1.025	.	.	.	B;B;B;B;B	0.32862	0.028;0.387;0.001;0.047;0.001	B;B;B;B;B	0.39027	0.038;0.288;0.007;0.015;0.007	T	0.60469	-0.7257	9	0.46703	T	0.11	.	12.0233	0.53356	0.0:0.9154:0.0:0.0846	.	509;509;299;352;343	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	T	352;343;299;509;343	ENSP00000387888:A352T;ENSP00000424478:A343T;ENSP00000421432:A299T;ENSP00000425497:A509T;ENSP00000286604:A343T	ENSP00000286604:A343T	A	-	1	0	UGT2A1	70495526	0.264000	0.24093	0.822000	0.32727	0.039000	0.13416	1.401000	0.34589	1.353000	0.45828	0.549000	0.68633	GCC		0.378	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		T	70460937	C	T	70460937	3	4	265	1	0	0	0	0	1	0	0	0	16958	797	28	2	568	2	UGT2A1	4	70460937	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	14176870	70460937	120693339	25	15988											
HNRNPD	3184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83280713	83280713	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr4:83280713C>T	ENST00000313899.7	-	3	647	c.370G>A	c.(370-372)Gta>Ata	p.V124I	HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000352301.4_Missense_Mutation_p.V105I|HNRNPD_ENST00000543098.1_Missense_Mutation_p.V72I|HNRNPD_ENST00000353341.4_Missense_Mutation_p.V124I	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	124	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.V124I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						GTGCAGTCTACAACTTCACCA	0.398																																																2	Substitution - Missense(2)	kidney(2)											126	123	124					4																	83280713		2203	4300	6503	SO:0001583	missense	3184			AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"RNA binding motif (RRM) containing"	5036	protein-coding gene	gene with protein product		601324	"heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.370G>A	4.37:g.83280713C>T	ENSP00000313199:p.Val124Ile		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.90|16.90	3.249786|3.249786	0.59212|0.59212	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000514671|ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822;ENST00000509107	.|D;D;D;D;D;D;D;D;D	.|0.84442	.|-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.86|5.86	5.86|5.86	0.93980|0.93980	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83041|0.83041	0.5168|0.5168	L|L	0.33710|0.33710	1.025|1.025	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.24963	.|0.094;0.094;0.094;0.115	.|B;B;B;B	.|0.32928	.|0.155;0.108;0.032;0.055	T|T	0.78671|0.78671	-0.2113|-0.2113	5|10	.|0.62326	.|D	.|0.03	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|105;124;105;124	.|Q14103-4;Q14103-3;Q14103-2;Q14103	.|.;.;.;HNRPD_HUMAN	Y|I	27|124;124;105;72;99;57;124;26;105;78	.|ENSP00000313199:V124I;ENSP00000313327:V124I;ENSP00000305860:V105I;ENSP00000439380:V72I;ENSP00000420926:V57I;ENSP00000421952:V124I;ENSP00000426666:V26I;ENSP00000422615:V105I;ENSP00000425439:V78I	.|ENSP00000307544:V99I	C|V	-|-	2|1	0|0	HNRNPD|HNRNPD	83499737|83499737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.398000|7.398000	0.79919|0.79919	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	TGT|GTA		0.398	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		T	83280713	C	T	83280713	3	4	265	1	0	0	0	0	1	0	0	0	7266	478	17	2	721	2	HNRNPD	4	83280713	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	12819776	83280713	107873563	26	15989											
CARD6	84674	hgsc.bcm.edu;ucsc.edu	37	5	40854473	40854475	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	GTC	GTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr5:40854473_40854475delGTC	ENST00000254691.5	+	3	3238_3240	c.3039_3041delGTC	c.(3037-3042)aagtca>aaa	p.S1016del	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	1016					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTCAACCTAAGTCATCCTCAACC	0.512																																																0																																										SO:0001651	inframe_deletion	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.3039_3041delGTC	5.37:g.40854473_40854475delGTC	ENSP00000254691:p.Ser1016del		Q52LR2	In_Frame_Del	DEL	ENST00000254691.5	37	CCDS3935.1																																																																																				0.512	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			-	40854475	GTC	-	40854473	7	5	265	1	0	1	0	1	0	0	0	0	2652	1020	36	0	3049	0	CARD6	5	40854473	In_Frame_Del	DEL	GTC	TCGA-B8-4143-01A-01D-1806-10		40854473	140060787	27	15990											
LRRC16A	55604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	25285102	25285102	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:25285102G>T	ENST00000329474.6	+	2	471	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	Y_RNA_ENST00000384556.1_RNA|LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	35					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.E35*(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGTAAAGTTGGAAGTTAAGGG	0.264																																																2	Substitution - Nonsense(2)	kidney(2)											92	92	92					6																	25285102		1809	4065	5874	SO:0001587	stop_gained	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.103G>T	6.37:g.25285102G>T	ENSP00000331983:p.Glu35*		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Nonsense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	38	7.095229	0.98059	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	.	.	.	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.2952	0.90143	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000331983:E35X	E	+	1	0	LRRC16A	25393081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.229000	0.78088	2.679000	0.91253	0.650000	0.86243	GAA		0.264	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		T	25285102	G	T	25285102	4	4	265	1	0	0	0	0	0	1	0	0	8973	1175	41	4	109	4	LRRC16A	6	25285102	Nonsense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10		25285102	145829965	28	15991											
HIST1H2BJ	8970	broad.mit.edu;hgsc.bcm.edu	37	6	27100432	27100432	+	Missense_Mutation	SNP	C	C	T	rs137867381		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:27100432C>T	ENST00000607124.1	-	1	97	c.98G>A	c.(97-99)aGc>aAc	p.S33N	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.S33N|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.S33N|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	33				KRKRS -> SAAH (in Ref. 1; CAA24950). {ECO:0000305}.	antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S33N(1)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTCCTTGCGGCTGCGCTTGCG	0.557																																																1	Substitution - Missense(1)	kidney(1)											173	165	168					6																	27100432		2203	4300	6503	SO:0001583	missense	8970			X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.98G>A	6.37:g.27100432C>T	ENSP00000476136:p.Ser33Asn		B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006036	0.54361	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.70749	-0.51;-0.51	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.51601	0.1684	L	0.58428	1.81	0.32041	N	0.598278	B	0.12630	0.006	B	0.06405	0.002	T	0.55509	-0.8130	9	0.54805	T	0.06	.	10.7875	0.46413	0.0:0.8063:0.1937:0.0	.	33	P06899	H2B1J_HUMAN	N	33	ENSP00000445633:S33N;ENSP00000342886:S33N	ENSP00000342886:S33N	S	-	2	0	HIST1H2BJ	27208411	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.599000	0.36751	2.273000	0.75805	0.591000	0.81541	AGC		0.557	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		T	27100432	C	T	27100432	3	4	265	1	0	0	0	0	1	0	0	0	7151	797	28	2	286	2	HIST1H2BJ	6	27100432	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	1815330	27100432	144014635	29	15992											
GPR111	222611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	47649747	47649747	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:47649747delC	ENST00000296862.1	+	6	1452	c.1452delC	c.(1450-1452)cgcfs	p.R484fs	GPR111_ENST00000398742.2_Frame_Shift_Del_p.R416fs|GPR111_ENST00000507065.1_Frame_Shift_Del_p.R416fs			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	484					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCTATTTACGCCATGTGTGCA	0.468																																																0													111	103	105					6																	47649747		2050	4211	6261	SO:0001589	frameshift_variant	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1452delC	6.37:g.47649747delC	ENSP00000296862:p.Arg484fs		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Frame_Shift_Del	DEL	ENST00000296862.1	37																																																																																					0.468	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		-	47649747	C	-	47649747	7	5	265	1	0	1	0	1	0	0	0	0	6630	726	26	0	1266	0	GPR111	6	47649747	Frame_Shift_Del	DEL	C	TCGA-B8-4143-01A-01D-1806-10	20549315	47649747	123465320	30	15993											
CRISP2	7180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	49667553	49667553	+	Missense_Mutation	SNP	T	T	C	rs377127579		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:49667553T>C	ENST00000339139.4	-	6	471	c.235A>G	c.(235-237)Act>Gct	p.T79A		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	79	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)		p.T79A(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGTTGTAAAGTGCACTTGTTT	0.343																																																1	Substitution - Missense(1)	kidney(1)											161	131	141					6																	49667553		2203	4300	6503	SO:0001583	missense	7180			X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.235A>G	6.37:g.49667553T>C	ENSP00000339155:p.Thr79Ala		A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358086	0.41801	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.05996	3.36	5.02	5.02	0.67125	CAP domain (3);	0.479744	0.23485	N	0.047674	T	0.03348	0.0097	L	0.41492	1.28	0.25804	N	0.984476	P;B	0.34909	0.475;0.003	P;B	0.45167	0.472;0.013	T	0.43653	-0.9378	10	0.12766	T	0.61	.	11.3038	0.49323	0.0:0.0:0.0:1.0	.	79;79	Q7Z7B2;P16562	.;CRIS2_HUMAN	A	79	ENSP00000339155:T79A	ENSP00000211238:T79A	T	-	1	0	CRISP2	49775512	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	1.837000	0.39201	2.230000	0.72887	0.528000	0.53228	ACT		0.343	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		C	49667553	T	C	49667553	3	2	265	1	0	0	0	0	1	0	0	0	3882	1696	59	3	516	3	CRISP2	6	49667553	Missense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10	2017806	49667553	121447514	31	15994											
PKHD1	5314	hgsc.bcm.edu;ucsc.edu	37	6	51747999	51747999	+	Silent	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:51747999C>A	ENST00000371117.3	-	46	7517	c.7242G>T	c.(7240-7242)ctG>ctT	p.L2414L	PKHD1_ENST00000340994.4_Silent_p.L2414L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2414					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAAGTTTTTCAGGCGAAGAT	0.353																																																0													61	60	60					6																	51747999		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7242G>T	6.37:g.51747999C>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.353	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51747999	C	A	51747999	2	1	265	1	0	0	0	0	0	0	0	1	11973	813	29	4		4	PKHD1	6	51747999	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10	2080446	51747999	119367068	32	15995											
FAM54A	113115	hgsc.bcm.edu;ucsc.edu	37	6	136560875	136560875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr6:136560875G>A	ENST00000420702.1	-	6	987	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	MTFR2_ENST00000451457.2_Nonsense_Mutation_p.Q200*	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	200	Pro-rich.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											CCTGGAAGCTGATCTGGGTCC	0.532																																																0													66	56	60					6																	136560875		2203	4300	6503	SO:0001587	stop_gained	0			BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"DUF729 domain containing 1", "family with sequence similarity 54, member A"	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.598C>T	6.37:g.136560875G>A	ENSP00000395232:p.Gln200*		A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Nonsense_Mutation	SNP	ENST00000420702.1	37	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686190	0.68157	.	.	ENSG00000146410	ENST00000451457;ENST00000420702;ENST00000418509	.	.	.	5.5	0.787	0.18596	.	1.449840	0.04221	N	0.333460	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	0.0317	6.0631	0.19848	0.1988:0.3105:0.4907:0.0	.	.	.	.	X	200;200;157	.	ENSP00000410861:Q157X	Q	-	1	0	FAM54A	136602568	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.857000	0.27831	0.206000	0.20587	-0.321000	0.08615	CAG		0.532	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		A	136560875	G	A	136560875	4	1	265	1	0	0	0	0	0	1	0	0	5584	1299	45	2	571	2	FAM54A	6	136560875	Nonsense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	84812876	136560875	34554192	33	15996											
DPY19L1	23333	broad.mit.edu;hgsc.bcm.edu	37	7	35029520	35029520	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:35029520C>T	ENST00000310974.4	-	7	723	c.579G>A	c.(577-579)ttG>ttA	p.L193L	DPY19L1_ENST00000462134.2_5'Flank	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	193						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L193L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAAAGAAGCACAACACTGTAA	0.338																																																1	Substitution - coding silent(1)	kidney(1)											51	47	49					7																	35029520		1811	4079	5890	SO:0001819	synonymous_variant	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.579G>A	7.37:g.35029520C>T			O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	CCDS43567.1																																																																																				0.338	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			T	35029520	C	T	35029520	2	4	265	1	0	0	0	0	0	0	0	1	4742	477	17	2		2	DPY19L1	7	35029520	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10		35029520	124109143	34	15997											
MYO1G	64005	broad.mit.edu;ucsc.edu	37	7	45005737	45005737	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:45005737T>A	ENST00000258787.7	-	16	2228	c.2092A>T	c.(2092-2094)Aca>Tca	p.T698S		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	698	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T698S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GTGACCAGTGTCCGGGGTGAG	0.642																																																1	Substitution - Missense(1)	kidney(1)											87	78	81					7																	45005737		2203	4300	6503	SO:0001583	missense	64005			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2092A>T	7.37:g.45005737T>A	ENSP00000258787:p.Thr698Ser		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569980	0.65765	.	.	ENSG00000136286	ENST00000258787	T	0.71934	-0.61	4.54	3.37	0.38596	Myosin head, motor domain (1);	0.000000	0.41938	D	0.000786	T	0.81202	0.4773	M	0.85630	2.765	0.50039	D	0.999848	D	0.60160	0.987	P	0.59825	0.864	T	0.81795	-0.0769	10	0.87932	D	0	.	9.2249	0.37400	0.0:0.0887:0.0:0.9113	.	698	B0I1T2	MYO1G_HUMAN	S	698	ENSP00000258787:T698S	ENSP00000258787:T698S	T	-	1	0	MYO1G	44972262	0.995000	0.38212	0.059000	0.19551	0.863000	0.49368	2.441000	0.44864	0.689000	0.31550	0.459000	0.35465	ACA		0.642	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			A	45005737	T	A	45005737	3	1	265	1	0	0	0	0	1	0	0	0	10076	1667	58	5	992	5	MYO1G	7	45005737	Missense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10	9976217	45005737	114132926	35	15998											
FGL2	10875	broad.mit.edu;ucsc.edu	37	7	76826154	76826154	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:76826154C>T	ENST00000248598.5	-	2	794	c.762G>A	c.(760-762)ctG>ctA	p.L254L	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	254	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.L254L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GACGTGCCTGCAGCACTGTCC	0.493																																																1	Substitution - coding silent(1)	kidney(1)											114	109	111					7																	76826154		2203	4300	6503	SO:0001819	synonymous_variant	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.762G>A	7.37:g.76826154C>T				Silent	SNP	ENST00000248598.5	37	CCDS5591.1																																																																																				0.493	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		T	76826154	C	T	76826154	2	4	265	1	0	0	0	0	0	0	0	1	5875	697	25	2		2	FGL2	7	76826154	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10	31820417	76826154	82312509	36	15999											
SMO	6608	broad.mit.edu;hgsc.bcm.edu	37	7	128845209	128845209	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:128845209G>A	ENST00000249373.3	+	3	983	c.703G>A	c.(703-705)Gcg>Acg	p.A235T		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	235					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A235T(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CAGCTACATCGCGGCCTTCGG	0.677			Mis		skin basal cell																																		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	1	Substitution - Missense(1)	kidney(1)											36	36	36					7																	128845209		2203	4300	6503	SO:0001583	missense	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.703G>A	7.37:g.128845209G>A	ENSP00000249373:p.Ala235Thr		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414238	0.96092	.	.	ENSG00000128602	ENST00000249373	D	0.84070	-1.8	5.75	5.75	0.90469	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.90618	0.7058	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.90597	0.4541	10	0.62326	D	0.03	.	18.9302	0.92561	0.0:0.0:1.0:0.0	.	235	Q99835	SMO_HUMAN	T	235	ENSP00000249373:A235T	ENSP00000249373:A235T	A	+	1	0	SMO	128632445	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.791000	0.99081	2.720000	0.93068	0.555000	0.69702	GCG		0.677	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		A	128845209	G	A	128845209	3	1	265	1	0	0	0	0	1	0	0	0	14806	1087	38	1	713	1	SMO	7	128845209	Missense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	52019055	128845209	30293454	37	16000											
AHCYL2	23382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129064971	129064971	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:129064971C>A	ENST00000325006.3	+	15	1751	c.1697C>A	c.(1696-1698)cCc>cAc	p.P566H	AHCYL2_ENST00000474594.1_Missense_Mutation_p.P463H|AHCYL2_ENST00000446212.1_Missense_Mutation_p.P464H|AHCYL2_ENST00000531335.2_Missense_Mutation_p.P485H|AHCYL2_ENST00000490911.1_Missense_Mutation_p.P463H|AHCYL2_ENST00000446544.2_Missense_Mutation_p.P565H	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	566					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.P463H(1)|p.P566H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TACCTGTTGCCCAAGAAGATG	0.448																																					Pancreas(160;1736 1964 29875 40941 45605)											2	Substitution - Missense(2)	kidney(2)											161	140	147					7																	129064971		2203	4300	6503	SO:0001583	missense	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1697C>A	7.37:g.129064971C>A	ENSP00000315931:p.Pro566His		B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.826183|4.826183	0.90955|0.90955	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	D;D;D;D;D;D|D	0.87966|0.87809	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32|-2.3	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96128|0.96128	0.8738|0.8738	H|H	0.97465|0.97465	4.01|4.01	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.85130|.	0.993;0.993;0.997;0.993;0.995|.	D|D	0.97578|0.97578	1.0109|1.0109	10|8	0.87932|0.87932	D|D	0|0	-11.8978|-11.8978	17.7242|17.7242	0.88360|0.88360	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	463;464;566;463;565|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	H|T	566;565;485;463;464;463|473	ENSP00000315931:P566H;ENSP00000413639:P565H;ENSP00000431787:P485H;ENSP00000420459:P463H;ENSP00000405267:P464H;ENSP00000420801:P463H|ENSP00000419346:P473T	ENSP00000315931:P566H|ENSP00000419346:P473T	P|P	+|+	2|1	0|0	AHCYL2|AHCYL2	128852207|128852207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.796000|7.796000	0.85898|0.85898	2.530000|2.530000	0.85305|0.85305	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.448	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			A	129064971	C	A	129064971	3	1	265	1	0	0	0	0	1	0	0	0	411	623	22	4	1877	4	AHCYL2	7	129064971	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	219762	129064971	30073692	38	16001											
BRAF	673	hgsc.bcm.edu	37	7	140550005	140550005	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr7:140550005T>A	ENST00000288602.6	-	2	206	c.146A>T	c.(145-147)aAt>aTt	p.N49I		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	49					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TTGTTTGATATTCCACACCTA	0.313		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													101	108	106					7																	140550005		2203	4300	6503	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.146A>T	7.37:g.140550005T>A	ENSP00000288602:p.Asn49Ile		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021513	0.75275	.	.	ENSG00000157764	ENST00000288602	T	0.81163	-1.46	4.89	4.89	0.63831	.	0.098794	0.64402	D	0.000001	T	0.74435	0.3716	L	0.52011	1.625	0.58432	D	0.999999	B	0.31680	0.335	B	0.27500	0.08	T	0.76250	-0.3028	10	0.87932	D	0	.	12.0091	0.53276	0.0:0.0:0.0:1.0	.	49	P15056	BRAF_HUMAN	I	49	ENSP00000288602:N49I	ENSP00000288602:N49I	N	-	2	0	BRAF	140196474	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.408000	0.80041	1.838000	0.53458	0.454000	0.30748	AAT		0.313	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		A	140550005	T	A	140550005	3	1	265	1	0	0	0	0	1	0	0	0	1498	1493	52	5	2222	5	BRAF	7	140550005	Missense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10	11485034	140550005	18588658	39	16002											
COL22A1	169044	broad.mit.edu;ucsc.edu	37	8	139825225	139825225	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr8:139825225C>A	ENST00000303045.6	-	8	1729	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I	COL22A1_ENST00000435777.1_Missense_Mutation_p.R428I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	428					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R428I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCTGCGTGTCTCGAGTCACA	0.517										HNSCC(7;0.00092)																																						1	Substitution - Missense(1)	kidney(1)											154	127	136					8																	139825225		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1283G>T	8.37:g.139825225C>A	ENSP00000303153:p.Arg428Ile		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558783	0.65538	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.02140	4.43;4.43	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);	0.000000	0.36444	U	0.002600	T	0.08582	0.0213	L	0.56769	1.78	0.39289	D	0.964693	D	0.65815	0.995	P	0.62014	0.897	T	0.19484	-1.0304	9	.	.	.	.	14.8862	0.70570	0.0:1.0:0.0:0.0	.	428	Q8NFW1	COMA1_HUMAN	I	428	ENSP00000303153:R428I;ENSP00000387655:R428I	.	R	-	2	0	COL22A1	139894407	0.814000	0.29104	0.014000	0.15608	0.798000	0.45092	5.551000	0.67274	2.203000	0.70933	0.460000	0.39030	AGA		0.517	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		A	139825225	C	A	139825225	3	1	265	1	0	0	0	0	1	0	0	0	3683	913	32	4	3829	4	COL22A1	8	139825225	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10		139825225	6538797	40	16003											
TMOD1	7111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100326390	100326390	+	Silent	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr9:100326390G>A	ENST00000259365.4	+	6	771	c.558G>A	c.(556-558)acG>acA	p.T186T	TMOD1_ENST00000395211.2_Silent_p.T186T|TMOD1_ENST00000375175.1_Silent_p.T59T	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	186					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)		p.T186T(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TAGAGGAAACGCTGGAACGGA	0.463																																																1	Substitution - coding silent(1)	kidney(1)											121	98	106					9																	100326390		2203	4300	6503	SO:0001819	synonymous_variant	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.558G>A	9.37:g.100326390G>A			B2RB77|Q5T7W3|Q9BUF1	Silent	SNP	ENST00000259365.4	37	CCDS6726.1																																																																																				0.463	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		A	100326390	G	A	100326390	2	1	265	1	0	0	0	0	0	0	0	1	16238	1074	38	1		1	TMOD1	9	100326390	Silent	SNP	G	TCGA-B8-4143-01A-01D-1806-10		100326390	40887041	41	16004											
TRUB2	26995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131077879	131077879	+	Silent	SNP	G	G	A	rs548857483	byFrequency	TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr9:131077879G>A	ENST00000372890.4	-	4	678	c.345C>T	c.(343-345)ctC>ctT	p.L115L	TRUB2_ENST00000546104.1_Silent_p.L59L|TRUB2_ENST00000460320.1_5'UTR|RP11-339B21.13_ENST00000609315.1_RNA	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	115					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.L115L(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TATCGGTGAGGAGCCTGCATC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		12821	0.002		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											87	65	72					9																	131077879		2203	4300	6503	SO:0001819	synonymous_variant	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.345C>T	9.37:g.131077879G>A			B7Z7G5	Silent	SNP	ENST00000372890.4	37	CCDS6897.1																																																																																				0.582	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		A	131077879	G	A	131077879	2	1	265	1	0	0	0	0	0	0	0	1	16608	1161	41	2		2	TRUB2	9	131077879	Silent	SNP	G	TCGA-B8-4143-01A-01D-1806-10	30751489	131077879	10135552	42	16005											
CUBN	8029	broad.mit.edu;ucsc.edu	37	10	16975260	16975260	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr10:16975260T>A	ENST00000377833.4	-	40	6015	c.5950A>T	c.(5950-5952)Acg>Tcg	p.T1984S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1984	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.T1984S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCATCTCCCGTCCTCAGGAAG	0.512																																																1	Substitution - Missense(1)	kidney(1)											64	57	59					10																	16975260		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5950A>T	10.37:g.16975260T>A	ENSP00000367064:p.Thr1984Ser		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137612	0.37728	.	.	ENSG00000107611	ENST00000377833	T	0.74842	-0.88	5.66	5.66	0.87406	CUB (4);	0.200618	0.25456	N	0.030545	T	0.64125	0.2570	N	0.21142	0.635	0.80722	D	1	B	0.25667	0.131	B	0.27262	0.078	T	0.60732	-0.7205	10	0.35671	T	0.21	.	15.9023	0.79387	0.0:0.0:0.0:1.0	.	1984	O60494	CUBN_HUMAN	S	1984	ENSP00000367064:T1984S	ENSP00000367064:T1984S	T	-	1	0	CUBN	17015266	0.996000	0.38824	0.848000	0.33437	0.741000	0.42261	2.501000	0.45389	2.153000	0.67306	0.533000	0.62120	ACG		0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	16975260	T	A	16975260	3	1	265	1	0	0	0	0	1	0	0	0	4053	1667	58	5	5033	5	CUBN	10	16975260	Missense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10		16975260	118559487	43	16006											
DYDC1	143241	hgsc.bcm.edu	37	10	82112339	82112339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr10:82112339G>A	ENST00000372204.3	-	3	183	c.19C>T	c.(19-21)Caa>Taa	p.Q7*	DYDC2_ENST00000372199.1_5'UTR|DYDC2_ENST00000372197.1_Intron|DYDC1_ENST00000421924.2_Nonsense_Mutation_p.Q7*|DYDC1_ENST00000372202.1_Nonsense_Mutation_p.Q7*|DYDC2_ENST00000372198.1_Intron	NM_138812.3	NP_620167.1	Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	7										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			AGGTGCTTTTGAAGATATATT	0.373																																																0													53	54	54					10																	82112339		2203	4300	6503	SO:0001587	stop_gained	143241			BC019250	CCDS7366.1	10q22.3	2006-02-01			ENSG00000170788	ENSG00000170788			23460	protein-coding gene	gene with protein product		615154					Standard	NM_138812		Approved	bA36D19.5, DPY30D1	uc031pwj.1	Q8WWB3	OTTHUMG00000018609	ENST00000372204.3:c.19C>T	10.37:g.82112339G>A	ENSP00000361278:p.Gln7*		A8K927|Q5QP03|Q5QP04|Q6WNP4|Q6ZU87	Nonsense_Mutation	SNP	ENST00000372204.3	37	CCDS7366.1	.	.	.	.	.	.	.	.	.	.	G	39	7.818969	0.98507	.	.	ENSG00000170788	ENST00000372204;ENST00000372202;ENST00000421924;ENST00000454362;ENST00000453477	.	.	.	5.97	5.04	0.67666	.	0.640591	0.15505	N	0.258853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5184	12.6463	0.56735	0.0:0.0:0.8359:0.1641	.	.	.	.	X	7	.	ENSP00000361276:Q7X	Q	-	1	0	DYDC1	82102319	0.988000	0.35896	0.987000	0.45799	0.888000	0.51559	2.420000	0.44679	2.836000	0.97738	0.655000	0.94253	CAA		0.373	DYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049059.1	NM_138812		A	82112339	G	A	82112339	4	1	265	1	0	0	0	0	0	1	0	0	4840	1299	45	2	538	2	DYDC1	10	82112339	Nonsense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	65137079	82112339	53422408	44	16007											
LIPN	643418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	90534901	90534901	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr10:90534901A>C	ENST00000404459.1	+	8	944	c.944A>C	c.(943-945)aAt>aCt	p.N315T		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	315					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.N315T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		GACGCTGATAATATGAAACAT	0.333																																																1	Substitution - Missense(1)	kidney(1)											64	52	56					10																	90534901		1754	3927	5681	SO:0001583	missense	643418				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"lipase-like, ab-hydrolase domain containing 4"	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.944A>C	10.37:g.90534901A>C	ENSP00000383923:p.Asn315Thr		A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579914	0.46006	.	.	ENSG00000204020	ENST00000404459	T	0.72282	-0.64	5.19	5.19	0.71726	Alpha/beta hydrolase fold-1 (1);	0.000000	0.64402	D	0.000002	D	0.88764	0.6525	H	0.96916	3.905	0.42524	D	0.99301	D	0.89917	1.0	D	0.97110	1.0	D	0.92066	0.5660	10	0.87932	D	0	-25.5721	12.6671	0.56848	1.0:0.0:0.0:0.0	.	315	Q5VXI9	LIPN_HUMAN	T	315	ENSP00000383923:N315T	ENSP00000383923:N315T	N	+	2	0	LIPN	90524881	1.000000	0.71417	0.871000	0.34182	0.315000	0.28087	5.795000	0.69074	2.186000	0.69663	0.459000	0.35465	AAT		0.333	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751		C	90534901	A	C	90534901	3	2	265	1	0	0	0	0	1	0	0	0	8830	101	4	5	974	5	LIPN	10	90534901	Missense_Mutation	SNP	A	TCGA-B8-4143-01A-01D-1806-10	8422562	90534901	44999846	45	16008											
PKD2L1	9033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102056953	102056953	+	Missense_Mutation	SNP	C	C	A	rs575876129		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr10:102056953C>A	ENST00000318222.3	-	6	1351	c.969G>T	c.(967-969)gaG>gaT	p.E323D	PKD2L1_ENST00000353274.3_Missense_Mutation_p.E323D|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E248D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	323					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.E323D(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TAGCTGGAAACTCCACCACCA	0.597																																																1	Substitution - Missense(1)	kidney(1)											72	69	70					10																	102056953		2203	4300	6503	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.969G>T	10.37:g.102056953C>A	ENSP00000325296:p.Glu323Asp		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904462	0.72868	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.80994	-1.44;-1.44;-1.44	5.27	4.37	0.52481	Polycystin cation channel, PKD1/PKD2 (1);	0.113795	0.64402	D	0.000005	D	0.89698	0.6790	M	0.88031	2.925	0.46149	D	0.998892	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90234	0.4281	10	0.72032	D	0.01	-24.5505	9.184	0.37158	0.0:0.8375:0.0:0.1625	.	276;323	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	D	248;323;323;323	ENSP00000345068:E248D;ENSP00000266049:E323D;ENSP00000325296:E323D	ENSP00000325296:E323D	E	-	3	2	PKD2L1	102046943	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	0.389000	0.20751	1.438000	0.47492	0.561000	0.74099	GAG		0.597	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		A	102056953	C	A	102056953	3	1	265	1	0	0	0	0	1	0	0	0	11969	564	20	4	1492	4	PKD2L1	10	102056953	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	11522052	102056953	33477794	46	16009											
ATRNL1	26033	hgsc.bcm.edu	37	10	116930981	116930981	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr10:116930981G>T	ENST00000355044.3	+	8	1405	c.1279G>T	c.(1279-1281)Gtc>Ttc	p.V427F	ATRNL1_ENST00000527407.1_Missense_Mutation_p.L397F|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	427					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TAGAGATGTTGTCATGATCAT	0.353																																																0													177	171	173					10																	116930981		2203	4300	6503	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1279G>T	10.37:g.116930981G>T	ENSP00000347152:p.Val427Phe		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341725	0.61073	.	.	ENSG00000107518	ENST00000355044	T	0.66280	-0.2	5.76	4.85	0.62838	Kelch-type beta propeller (1);	0.232106	0.43919	D	0.000519	T	0.63046	0.2478	M	0.65498	2.005	0.80722	D	1	B;P	0.46512	0.437;0.879	B;P	0.45829	0.117;0.494	T	0.59434	-0.7455	10	0.19147	T	0.46	-14.2352	14.2055	0.65732	0.0712:0.0:0.9288:0.0	.	427;427	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	F	427	ENSP00000347152:V427F	ENSP00000347152:V427F	V	+	1	0	ATRNL1	116920971	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.044000	0.49830	2.722000	0.93159	0.650000	0.86243	GTC		0.353	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		T	116930981	G	T	116930981	3	4	265	1	0	0	0	0	1	0	0	0	1207	1377	48	4	1309	4	ATRNL1	10	116930981	Missense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	14874028	116930981	18603766	47	16010											
OR4P4	81300	broad.mit.edu;ucsc.edu	37	11	55406555	55406555	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:55406555A>G	ENST00000314612.2	+	1	722	c.722A>G	c.(721-723)cAt>cGt	p.H241R		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H241R(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TGTAGTTCTCATGTAATTGTT	0.378																																																1	Substitution - Missense(1)	kidney(1)											215	155	176					11																	55406555		2182	4032	6214	SO:0001583	missense	81300			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.722A>G	11.37:g.55406555A>G	ENSP00000324831:p.His241Arg			Missense_Mutation	SNP	ENST00000314612.2	37	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769934	0.49680	.	.	ENSG00000181927	ENST00000314612	T	0.00311	8.15	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000702	T	0.01287	0.0042	H	0.98155	4.16	0.49389	D	0.999789	D	0.67145	0.996	D	0.76575	0.988	T	0.15037	-1.0451	10	0.87932	D	0	-11.937	13.5908	0.61959	1.0:0.0:0.0:0.0	.	241	Q8NGL7	OR4P4_HUMAN	R	241	ENSP00000324831:H241R	ENSP00000324831:H241R	H	+	2	0	OR4P4	55163131	0.962000	0.33011	0.518000	0.27811	0.063000	0.16089	5.133000	0.64764	2.082000	0.62665	0.519000	0.50382	CAT		0.378	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		G	55406555	A	G	55406555	3	3	265	1	0	0	0	0	1	0	0	0	11082	217	8	3	724	3	OR4P4	11	55406555	Missense_Mutation	SNP	A	TCGA-B8-4143-01A-01D-1806-10		55406555	79599961	48	16011											
MS4A14	84689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60164088	60164088	+	Missense_Mutation	SNP	G	G	A	rs371634910		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:60164088G>A	ENST00000300187.6	+	1	314	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	MS4A14_ENST00000395005.2_Missense_Mutation_p.V13I|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Missense_Mutation_p.V13I	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	13						integral component of membrane (GO:0016021)		p.V13I(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGCAACTCACGTCATCACTAT	0.458																																																1	Substitution - Missense(1)	kidney(1)						G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	127	100	109		37,37	2	0	11		109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MS4A14	NM_001079692.1,NM_032597.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	13/663,13/680	60164088	1,13005	2203	4300	6503	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.37G>A	11.37:g.60164088G>A	ENSP00000300187:p.Val13Ile		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424124	0.25639	0.0	1.16E-4	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.37752	2.55;1.18;1.36;2.86	4.85	1.97	0.26223	.	1.095230	0.06921	N	0.809451	T	0.21801	0.0525	N	0.19112	0.55	0.09310	N	0.999998	P;P	0.41041	0.73;0.736	B;B	0.36922	0.236;0.168	T	0.14839	-1.0458	10	0.41790	T	0.15	-1.0279	4.383	0.11304	0.1852:0.0:0.6376:0.1771	.	13;13	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	I	13	ENSP00000300187:V13I;ENSP00000378453:V13I;ENSP00000435764:V13I;ENSP00000433761:V13I	ENSP00000300187:V13I	V	+	1	0	MS4A14	59920664	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.091000	0.15046	0.257000	0.21650	-0.169000	0.13324	GTC		0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			A	60164088	G	A	60164088	3	1	265	1	0	0	0	0	1	0	0	0	9860	1145	40	1	39	1	MS4A14	11	60164088	Missense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	4757533	60164088	74842428	49	16012											
PLCB3	5331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64029901	64029901	+	Silent	SNP	G	G	A	rs372858684		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:64029901G>A	ENST00000540288.1	+	18	2164	c.2061G>A	c.(2059-2061)gcG>gcA	p.A687A	PLCB3_ENST00000279230.6_Silent_p.A687A|PLCB3_ENST00000325234.5_Silent_p.A620A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	687	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.A687A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGCTCAACGCGGGCGTTTTTG	0.637																																																1	Substitution - coding silent(1)	kidney(1)						G	,	1,4401	2.1+/-5.4	0,1,2200	80	89	86		2061,1860	-10.7	0.2	11		86	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	PLCB3	NM_000932.2,NM_001184883.1	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	687/1235,620/1168	64029901	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2061G>A	11.37:g.64029901G>A			A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	CCDS8064.1																																																																																				0.637	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			A	64029901	G	A	64029901	2	1	265	1	0	0	0	0	0	0	0	1	12031	1103	39	1		1	PLCB3	11	64029901	Silent	SNP	G	TCGA-B8-4143-01A-01D-1806-10	3865813	64029901	70976615	50	16013											
SYVN1	84447	broad.mit.edu	37	11	64897312	64897312	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:64897312T>C	ENST00000377190.3	-	14	1578	c.1484A>G	c.(1483-1485)cAt>cGt	p.H495R	SYVN1_ENST00000294256.8_Missense_Mutation_p.H494R|SYVN1_ENST00000526060.1_Missense_Mutation_p.H494R|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000307289.6_Missense_Mutation_p.H443R	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	495					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)	p.H495R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTGCCGCTCATGGCCCTCCAG	0.652																																																1	Substitution - Missense(1)	kidney(1)											37	42	40					11																	64897312		2201	4297	6498	SO:0001583	missense	84447			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1484A>G	11.37:g.64897312T>C	ENSP00000366395:p.His495Arg		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.479132	0.26511	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	T;T;T;T	0.09073	3.02;3.02;3.19;3.02	4.61	4.61	0.57282	.	0.128646	0.51477	D	0.000081	T	0.05777	0.0151	L	0.33485	1.01	0.40290	D	0.978497	P;B;B	0.38020	0.615;0.358;0.244	B;B;B	0.28638	0.092;0.055;0.025	T	0.47799	-0.9089	10	0.19590	T	0.45	-11.5124	11.9897	0.53168	0.0:0.0:0.0:1.0	.	443;494;495	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	R	495;494;495;443;494	ENSP00000366395:H495R;ENSP00000294256:H494R;ENSP00000302035:H443R;ENSP00000436984:H494R	ENSP00000294256:H494R	H	-	2	0	SYVN1	64653888	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	4.478000	0.60230	1.947000	0.56498	0.459000	0.35465	CAT		0.652	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		C	64897312	T	C	64897312	3	2	265	1	0	0	0	0	1	0	0	0	15492	1464	51	3	381	3	SYVN1	11	64897312	Missense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10	867411	64897312	70109204	51	16014											
MMP7	4316	hgsc.bcm.edu	37	11	102394122	102394122	+	Silent	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:102394122G>A	ENST00000260227.4	-	5	676	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	208					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	CAGCATACAGGAAGTTAATCC	0.348																																																0													93	86	88					11																	102394122		2203	4299	6502	SO:0001819	synonymous_variant	4316			Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"matrix metalloproteinase 7 (matrilysin, uterine)"	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.624C>T	11.37:g.102394122G>A			Q9BTK9	Silent	SNP	ENST00000260227.4	37	CCDS8317.1																																																																																				0.348	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			A	102394122	G	A	102394122	2	1	265	1	0	0	0	0	0	0	0	1	9669	1165	41	2		2	MMP7	11	102394122	Silent	SNP	G	TCGA-B8-4143-01A-01D-1806-10	37496810	102394122	32612394	52	16015											
RDX	5962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	110150412	110150412	+	Silent	SNP	C	C	A	rs202177331	byFrequency	TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:110150412C>A	ENST00000343115.4	-	2	325	c.6G>T	c.(4-6)ccG>ccT	p.P2P	RDX_ENST00000530301.1_Silent_p.P2P|RDX_ENST00000405097.1_Silent_p.P2P|RDX_ENST00000528900.1_5'UTR|RDX_ENST00000528498.1_Silent_p.P2P|RDX_ENST00000544551.1_5'UTR	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	2					actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.P2P(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TTACTGGTTTCGGCATTTTCT	0.274																																					Esophageal Squamous(55;25 1062 11040 28755 44273)											1	Substitution - coding silent(1)	kidney(1)											67	64	65					11																	110150412		2198	4296	6494	SO:0001819	synonymous_variant	5962			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.6G>T	11.37:g.110150412C>A			A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Silent	SNP	ENST00000343115.4	37	CCDS8343.1																																																																																				0.274	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		A	110150412	C	A	110150412	2	1	265	1	0	0	0	0	0	0	0	1	13204	871	31	4		4	RDX	11	110150412	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10	7756290	110150412	24856104	53	16016											
ZBTB16	7704	broad.mit.edu;ucsc.edu	37	11	113934420	113934420	+	Missense_Mutation	SNP	C	C	T	rs370480903		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr11:113934420C>T	ENST00000335953.4	+	2	778	c.398C>T	c.(397-399)aCg>aTg	p.T133M	ZBTB16_ENST00000392996.2_Missense_Mutation_p.T133M	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	133					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T133M(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GACAATGACACGGAGGCCACC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18448	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	MET/THR,MET/THR	1,4401	2.1+/-5.4	0,1,2200	42	42	42		398,398	4.6	1	11		42	0,8592		0,0,4296	no	missense,missense	ZBTB16	NM_001018011.1,NM_006006.4	81,81	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	133/674,133/674	113934420	1,12993	2201	4296	6497	SO:0001583	missense	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.398C>T	11.37:g.113934420C>T	ENSP00000338157:p.Thr133Met		Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783065	0.31593	2.27E-4	0.0	ENSG00000109906	ENST00000335953;ENST00000535700;ENST00000392996;ENST00000310883	T;T;T	0.75260	2.89;-0.92;2.89	5.53	4.59	0.56863	.	0.499924	0.23354	N	0.049087	T	0.55049	0.1896	N	0.19112	0.55	0.24313	N	0.995075	P;B	0.48350	0.909;0.298	B;B	0.35182	0.197;0.09	T	0.53415	-0.8442	10	0.54805	T	0.06	-4.1747	10.7583	0.46249	0.1576:0.7083:0.1341:0.0	.	133;138	Q05516;Q59H43	ZBT16_HUMAN;.	M	133	ENSP00000338157:T133M;ENSP00000443013:T133M;ENSP00000376721:T133M	ENSP00000309507:T133M	T	+	2	0	ZBTB16	113439630	0.983000	0.35010	0.999000	0.59377	0.909000	0.53808	2.087000	0.41653	1.388000	0.46506	0.561000	0.74099	ACG		0.582	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		T	113934420	C	T	113934420	3	4	265	1	0	0	0	0	1	0	0	0	17531	536	19	1	400	1	ZBTB16	11	113934420	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	3784008	113934420	21072096	54	16017											
ITPR2	3709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	26553126	26553126	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:26553126C>T	ENST00000381340.3	-	53	7881	c.7465G>A	c.(7465-7467)Gtg>Atg	p.V2489M	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2489					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.V2489M(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGGTTCAGCACGGTGACAATG	0.418																																																1	Substitution - Missense(1)	kidney(1)											123	120	121					12																	26553126		1922	4129	6051	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7465G>A	12.37:g.26553126C>T	ENSP00000370744:p.Val2489Met		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049365	0.55218	.	.	ENSG00000123104	ENST00000381340	D	0.98617	-5.03	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.98798	0.9595	M	0.62266	1.93	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.99346	1.0913	10	0.51188	T	0.08	.	17.8507	0.88746	0.0:1.0:0.0:0.0	.	2489	Q14571	ITPR2_HUMAN	M	2489	ENSP00000370744:V2489M	ENSP00000370744:V2489M	V	-	1	0	ITPR2	26444393	1.000000	0.71417	0.218000	0.23776	0.063000	0.16089	7.143000	0.77348	2.508000	0.84585	0.563000	0.77884	GTG		0.418	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		T	26553126	C	T	26553126	3	4	265	1	0	0	0	0	1	0	0	0	7923	536	19	1	660	1	ITPR2	12	26553126	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10		26553126	107298769	55	16018											
C12orf11	55726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	27066946	27066946	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:27066946G>C	ENST00000261191.7	-	13	2071	c.1535C>G	c.(1534-1536)cCt>cGt	p.P512R	ASUN_ENST00000539625.1_Missense_Mutation_p.P411R	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	512					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P512R(1)									TGTGGAAATAGGTAGAGGATC	0.308																																																1	Substitution - Missense(1)	kidney(1)											86	89	88					12																	27066946		2202	4294	6496	SO:0001583	missense	0			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1535C>G	12.37:g.27066946G>C	ENSP00000261191:p.Pro512Arg		B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751805	0.89753	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745;ENST00000261190	T;T;T	0.45668	0.89;0.89;0.89	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70085	-0.4969	10	0.87932	D	0	-16.8409	19.4877	0.95037	0.0:0.0:1.0:0.0	.	512;411	Q9NVM9;B4DNK1	M89BB_HUMAN;.	R	159;512;411;99;9	ENSP00000445645:P159R;ENSP00000261191:P512R;ENSP00000443724:P411R	ENSP00000261190:P9R	P	-	2	0	C12orf11	26958213	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.802000	0.99131	2.660000	0.90430	0.591000	0.81541	CCT		0.308	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		C	27066946	G	C	27066946	3	2	265	1	0	0	0	0	1	0	0	0	1677	1000	35	4	605	4	C12orf11	12	27066946	Missense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	513820	27066946	106784949	56	16019											
KIF21A	55605	hgsc.bcm.edu	37	12	39726836	39726836	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:39726836G>C	ENST00000361418.5	-	19	2576	c.2561C>G	c.(2560-2562)tCa>tGa	p.S854*	KIF21A_ENST00000544797.2_Nonsense_Mutation_p.S841*|KIF21A_ENST00000395670.3_Nonsense_Mutation_p.S854*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.S818*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.S841*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	854					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGCATCAGATGAACTCAGCTT	0.502																																																0													93	86	89					12																	39726836		2203	4300	6503	SO:0001587	stop_gained	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2561C>G	12.37:g.39726836G>C	ENSP00000354878:p.Ser854*		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.58|16.58	3.163222|3.163222	0.57476|0.57476	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	.|.	.|.	.|.	5.38|5.38	4.49|4.49	0.54785|0.54785	.|.	.|0.452476	.|0.16898	.|N	.|0.195020	T|.	0.31263|.	0.0791|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36040|.	-0.9764|.	3|.	.|0.12430	.|T	.|0.62	.|.	6.534|6.534	0.22341|0.22341	0.3122:0.0:0.6878:0.0|0.3122:0.0:0.6878:0.0	.|.	.|.	.|.	.|.	D|X	202|841;854;854;841;854;818	.|.	.|ENSP00000344501:S854X	H|S	-|-	1|2	0|0	KIF21A|KIF21A	38013103|38013103	1.000000|1.000000	0.71417|0.71417	0.915000|0.915000	0.36163|0.36163	0.866000|0.866000	0.49608|0.49608	3.520000|3.520000	0.53465|0.53465	1.267000|1.267000	0.44247|0.44247	0.557000|0.557000	0.71058|0.71058	CAT|TCA		0.502	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		C	39726836	G	C	39726836	4	2	265	1	0	0	0	0	0	1	0	0	8290	1294	45	4	2543	4	KIF21A	12	39726836	Nonsense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	12659890	39726836	94125059	57	16020											
MLL2	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49444338	49444338	+	Silent	SNP	C	C	T	rs373881433		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:49444338C>T	ENST00000301067.7	-	11	3032	c.3033G>A	c.(3031-3033)ccG>ccA	p.P1011P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1011	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P1011P(1)|p.P738P(1)									TGGGAGAAGCCGGCCCCACTG	0.612																																																2	Substitution - coding silent(2)	kidney(2)						C		1,3993		0,1,1996	55	63	61		3033	-2	0	12		61	1,8339		0,1,4169	no	coding-synonymous	MLL2	NM_003482.3		0,2,6165	TT,TC,CC		0.012,0.025,0.0162		1011/5538	49444338	2,12332	1997	4170	6167	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3033G>A	12.37:g.49444338C>T			O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49444338	C	T	49444338	2	4	265	1	0	0	0	0	0	0	0	1	9623	639	23	1		1	MLL2	12	49444338	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10	9717502	49444338	84407557	58	16021											
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53686061	53686061	+	Splice_Site	SNP	G	G	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:53686061G>T	ENST00000257934.4	+	28	5887		c.e28-1		ESPL1_ENST00000552462.1_Splice_Site	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)						apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTCCTCCTCAGTATGGGGCCT	0.527																																					Colon(53;1069 1201 2587 5382)											1	Unknown(1)	kidney(1)											77	77	77					12																	53686061		2203	4300	6503	SO:0001630	splice_region_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5797-1G>T	12.37:g.53686061G>T				Splice_Site	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601338	0.28534	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7919	0.69848	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ESPL1	51972328	1.000000	0.71417	0.935000	0.37517	0.219000	0.24729	4.505000	0.60421	2.615000	0.88500	0.650000	0.86243	.		0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	Intron	T	53686061	G	T	53686061	5	4	265	1	0	0	0	0	0	0	1	0	5255	1043	36	4	5902	4	ESPL1	12	53686061	Splice_Site	SNP	G	TCGA-B8-4143-01A-01D-1806-10	4241723	53686061	80165834	59	16022											
MED13L	23389	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	116409971	116409971	+	Missense_Mutation	SNP	C	C	T	rs554093251	byFrequency	TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr12:116409971C>T	ENST00000281928.3	-	26	6008	c.5802G>A	c.(5800-5802)atG>atA	p.M1934I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1934						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.M1934I(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AGATTCCACACATCCGGCACA	0.478													C|||	2	0.000399361	0.0	0.0	5008	,	,		18520	0.0		0.0	False		,,,				2504	0.002															1	Substitution - Missense(1)	kidney(1)											128	120	123					12																	116409971		2203	4300	6503	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5802G>A	12.37:g.116409971C>T	ENSP00000281928:p.Met1934Ile		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.265459|5.265459	0.95399|0.95399	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000281928|ENST00000552447	T|.	0.74737|.	-0.87|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.037711|.	0.85682|.	D|.	0.000000|.	T|T	0.76162|0.76162	0.3949|0.3949	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	B|.	0.29481|.	0.245|.	B|.	0.31946|.	0.138|.	T|T	0.76255|0.76255	-0.3026|-0.3026	10|5	0.62326|.	D|.	0.03|.	.|.	18.3134|18.3134	0.90208|0.90208	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1934|.	Q71F56|.	MD13L_HUMAN|.	I|M	1934|139	ENSP00000281928:M1934I|.	ENSP00000281928:M1934I|.	M|V	-|-	3|1	0|0	MED13L|MED13L	114894354|114894354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.628000|5.628000	0.67791|0.67791	2.631000|2.631000	0.89168|0.89168	0.563000|0.563000	0.77884|0.77884	ATG|GTG		0.478	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			T	116409971	C	T	116409971	3	4	265	1	0	0	0	0	1	0	0	0	9433	478	17	2	854	2	MED13L	12	116409971	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	62723910	116409971	17441924	60	16023											
ATP8A2	51761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26413708	26413708	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr13:26413708G>A	ENST00000381655.2	+	30	3044	c.2902G>A	c.(2902-2904)Gcc>Acc	p.A968T	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.A903T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	928					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A968T(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCATCAACGCCTTGGTCCA	0.517																																																1	Substitution - Missense(1)	kidney(1)											157	159	159					13																	26413708		2021	4176	6197	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2902G>A	13.37:g.26413708G>A	ENSP00000371070:p.Ala968Thr		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	36	5.696399	0.96802	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.59083	0.29;0.29	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.83384	2.64	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.64595	0.848;0.927;0.848	T	0.80812	-0.1215	10	0.87932	D	0	.	19.9785	0.97317	0.0:0.0:1.0:0.0	.	903;748;928	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	T	968;903;748	ENSP00000371070:A968T;ENSP00000255283:A903T	ENSP00000255283:A903T	A	+	1	0	ATP8A2	25311708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.465000	0.97660	2.724000	0.93272	0.650000	0.86243	GCC		0.517	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		A	26413708	G	A	26413708	3	1	265	1	0	0	0	0	1	0	0	0	1193	1087	38	1	3020	1	ATP8A2	13	26413708	Missense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10		26413708	88756170	61	16024											
NBEA	26960	broad.mit.edu;hgsc.bcm.edu	37	13	36046544	36046544	+	Silent	SNP	G	G	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr13:36046544G>T	ENST00000400445.3	+	41	6990	c.6456G>T	c.(6454-6456)gtG>gtT	p.V2152V	NBEA_ENST00000310336.4_Silent_p.V2152V|NBEA_ENST00000379939.2_Silent_p.V2149V|NBEA_ENST00000540320.1_Silent_p.V2152V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2152					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.V2152V(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGGCCCAGTGGTTCTCAGCA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											55	59	58					13																	36046544		1993	4159	6152	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6456G>T	13.37:g.36046544G>T			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.577	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		T	36046544	G	T	36046544	2	4	265	1	0	0	0	0	0	0	0	1	10189	1335	47	4		4	NBEA	13	36046544	Silent	SNP	G	TCGA-B8-4143-01A-01D-1806-10	9632836	36046544	79123334	62	16025											
RCBTB2	1102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	49084795	49084795	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr13:49084795T>A	ENST00000344532.3	-	10	1319	c.896A>T	c.(895-897)tAt>tTt	p.Y299F	RCBTB2_ENST00000430805.2_Missense_Mutation_p.Y304F|RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000481144.1_5'Flank|RCBTB2_ENST00000544904.1_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	299					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.Y299F(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		AGGAGTAGGATAGGACTGGTT	0.453																																																1	Substitution - Missense(1)	kidney(1)											135	122	127					13																	49084795		2203	4300	6503	SO:0001583	missense	1102			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.896A>T	13.37:g.49084795T>A	ENSP00000345144:p.Tyr299Phe		B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424011	0.25639	.	.	ENSG00000136161	ENST00000344532;ENST00000452987;ENST00000430805	D;D	0.85013	-1.93;-1.93	5.58	4.41	0.53225	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.242073	0.43416	D	0.000575	T	0.67748	0.2926	N	0.04387	-0.21	0.80722	D	1	B;B	0.34181	0.147;0.44	B;B	0.36030	0.216;0.216	T	0.62909	-0.6754	10	0.10636	T	0.68	.	11.3923	0.49822	0.0:0.0709:0.0:0.9291	.	304;299	B4DWG0;O95199	.;RCBT2_HUMAN	F	299;304;304	ENSP00000345144:Y299F;ENSP00000389910:Y304F	ENSP00000345144:Y299F	Y	-	2	0	RCBTB2	47982796	0.992000	0.36948	1.000000	0.80357	0.978000	0.69477	3.296000	0.51802	0.953000	0.37825	0.533000	0.62120	TAT		0.453	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		A	49084795	T	A	49084795	3	1	265	1	0	0	0	0	1	0	0	0	13178	1406	49	5	783	5	RCBTB2	13	49084795	Missense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10	13038251	49084795	66085083	63	16026											
MIPOL1	145282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	37777677	37777677	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr14:37777677G>A	ENST00000327441.7	+	10	1247	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	MIPOL1_ENST00000537471.1_Missense_Mutation_p.E261K|MIPOL1_ENST00000396294.2_Missense_Mutation_p.E261K|MIPOL1_ENST00000545536.1_Missense_Mutation_p.E230K|MIPOL1_ENST00000539062.2_Missense_Mutation_p.E230K|MIPOL1_ENST00000556451.1_Missense_Mutation_p.E230K|MIPOL1_ENST00000536774.1_Missense_Mutation_p.E80K	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	261						nucleus (GO:0005634)		p.E261K(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AATAACTGCAGAAGAAATGAG	0.358																																																1	Substitution - Missense(1)	kidney(1)											122	122	122					14																	37777677		2203	4300	6503	SO:0001583	missense	145282			AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.781G>A	14.37:g.37777677G>A	ENSP00000333539:p.Glu261Lys		D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315316	0.81358	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.56611	0.47;0.48;0.45;0.47;0.47;0.45	5.65	5.65	0.86999	.	0.053340	0.64402	D	0.000001	T	0.74473	0.3721	M	0.74881	2.28	0.50313	D	0.999868	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76236	-0.3033	10	0.72032	D	0.01	-11.9499	19.7072	0.96079	0.0:0.0:1.0:0.0	.	261;230	Q8TD10;Q49AL5	MIPO1_HUMAN;.	K	261;80;230;230;261;261;230	ENSP00000333539:E261K;ENSP00000438319:E230K;ENSP00000450479:E230K;ENSP00000379589:E261K;ENSP00000444254:E261K;ENSP00000442529:E230K	ENSP00000333539:E261K	E	+	1	0	MIPOL1	36847428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.474000	0.81024	2.662000	0.90505	0.591000	0.81541	GAA		0.358	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		A	37777677	G	A	37777677	3	1	265	1	0	0	0	0	1	0	0	0	9595	943	33	2	807	2	MIPOL1	14	37777677	Missense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10		37777677	69571863	64	16027											
GALC	2581	hgsc.bcm.edu	37	14	88406277	88406277	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr14:88406277T>G	ENST00000261304.2	-	16	1989	c.1883A>C	c.(1882-1884)aAa>aCa	p.K628T	GALC_ENST00000393569.2_Missense_Mutation_p.K602T|GALC_ENST00000544807.2_Missense_Mutation_p.K572T|GALC_ENST00000393568.4_Missense_Mutation_p.K605T	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	628					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTATACCATTTTTTTGCTGT	0.313																																																0													161	155	157					14																	88406277		1859	4117	5976	SO:0001583	missense	2581			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1883A>C	14.37:g.88406277T>G	ENSP00000261304:p.Lys628Thr		B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.726071	0.00694	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	5.82	-5.29	0.02747	.	1.331390	0.04206	N	0.330882	D	0.84083	0.5394	N	0.21583	0.68	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.10450	0.001;0.003;0.002;0.005	T	0.73313	-0.4022	10	0.14252	T	0.57	0.3823	3.9018	0.09164	0.1565:0.1243:0.4627:0.2565	.	572;605;602;628	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	T	628;572;602;417;605	ENSP00000261304:K628T;ENSP00000437513:K572T;ENSP00000377199:K602T;ENSP00000377198:K605T	ENSP00000261304:K628T	K	-	2	0	GALC	87476030	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-0.334000	0.07883	-1.237000	0.02539	-3.654000	0.00026	AAA		0.313	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			G	88406277	T	G	88406277	3	3	265	1	0	0	0	0	1	0	0	0	6203	1841	64	5	182	5	GALC	14	88406277	Missense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10	50628600	88406277	18943263	65	16028											
DICER1	23405	hgsc.bcm.edu	37	14	95577719	95577719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr14:95577719C>A	ENST00000526495.1	-	16	2482	c.2191G>T	c.(2191-2193)Gaa>Taa	p.E731*	DICER1_ENST00000393063.1_Nonsense_Mutation_p.E731*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.E731*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.E731*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.E731*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	731					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTCTCTTCTTCATCATGCAAA	0.413			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													296	261	273					14																	95577719		2203	4300	6503	SO:0001587	stop_gained	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2191G>T	14.37:g.95577719C>A	ENSP00000437256:p.Glu731*		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Nonsense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	43	10.148590	0.99346	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.69	5.69	0.88448	.	0.138738	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-21.6799	19.8126	0.96553	0.0:1.0:0.0:0.0	.	.	.	.	X	731	.	ENSP00000343745:E731X	E	-	1	0	DICER1	94647472	1.000000	0.71417	0.991000	0.47740	0.850000	0.48378	7.783000	0.85696	2.680000	0.91292	0.650000	0.86243	GAA		0.413	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			A	95577719	C	A	95577719	4	1	265	1	0	0	0	0	0	1	0	0	4523	835	29	4	3633	4	DICER1	14	95577719	Nonsense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	7171442	95577719	11771821	66	16029											
CHRM5	1133	broad.mit.edu	37	15	34355731	34355731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr15:34355731G>A	ENST00000383263.5	+	3	1483	c.813G>A	c.(811-813)tgG>tgA	p.W271*	CHRM5_ENST00000557872.1_Nonsense_Mutation_p.W271*	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	271					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.W271*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AGGCCTCCTGGTCATCCTCCC	0.612																																																1	Substitution - Nonsense(1)	kidney(1)											49	49	49					15																	34355731		2201	4298	6499	SO:0001587	stop_gained	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.813G>A	15.37:g.34355731G>A	ENSP00000372750:p.Trp271*		Q96RG7	Nonsense_Mutation	SNP	ENST00000383263.5	37	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	39	7.465582	0.98302	.	.	ENSG00000184984	ENST00000383263	.	.	.	5.42	5.42	0.78866	.	0.436137	0.25887	N	0.027643	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2142	19.4084	0.94658	0.0:0.0:1.0:0.0	.	.	.	.	X	271	.	ENSP00000372750:W271X	W	+	3	0	CHRM5	32143023	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	7.793000	0.85851	2.820000	0.97059	0.650000	0.86243	TGG		0.612	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			A	34355731	G	A	34355731	4	1	265	1	0	0	0	0	0	1	0	0	3382	1270	44	2	815	2	CHRM5	15	34355731	Nonsense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10		34355731	68175661	67	16030											
NDUFAF1	51103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41689026	41689026	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr15:41689026G>C	ENST00000260361.4	-	2	613	c.232C>G	c.(232-234)Cct>Gct	p.P78A		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	78					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)	p.P78A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CTAACATCAGGCTTCTCCTCA	0.428																																																1	Substitution - Missense(1)	kidney(1)											132	137	135					15																	41689026		2203	4300	6503	SO:0001583	missense	51103			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"Mitochondrial respiratory chain complex assembly factors"	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.232C>G	15.37:g.41689026G>C	ENSP00000260361:p.Pro78Ala		Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	G	0.535	-0.856022	0.02630	.	.	ENSG00000137806	ENST00000260361	T	0.59224	0.28	4.77	2.48	0.30137	.	0.209271	0.48286	D	0.000191	T	0.43523	0.1251	L	0.50919	1.6	0.24475	N	0.994375	B	0.18610	0.029	B	0.16289	0.015	T	0.28396	-1.0045	10	0.06365	T	0.9	-15.4596	10.0084	0.41970	0.0:0.0:0.4535:0.5465	.	78	Q9Y375	CIA30_HUMAN	A	78	ENSP00000260361:P78A	ENSP00000260361:P78A	P	-	1	0	NDUFAF1	39476318	0.790000	0.28787	0.849000	0.33467	0.063000	0.16089	1.811000	0.38942	1.106000	0.41623	0.456000	0.33151	CCT		0.428	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		C	41689026	G	C	41689026	3	2	265	1	0	0	0	0	1	0	0	0	10276	1203	42	4	767	4	NDUFAF1	15	41689026	Missense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	7333295	41689026	60842366	68	16031											
SPTBN5	51332	hgsc.bcm.edu	37	15	42178134	42178135	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr15:42178134_42178135delCT	ENST00000320955.6	-	7	1545_1546	c.1318_1319delAG	c.(1318-1320)agtfs	p.S440fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	440					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTTAAGGAAACTCTCCCGGAGG	0.663																																																0																																										SO:0001589	frameshift_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1318_1319delAG	15.37:g.42178136_42178137delCT	ENSP00000317790:p.Ser440fs			Frame_Shift_Del	DEL	ENST00000320955.6	37																																																																																					0.663	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		-	42178135	CT	-	42178134	7	5	265	1	0	1	0	1	0	0	0	0	15127	565	20	0	9953	0	SPTBN5	15	42178134	Frame_Shift_Del	DEL	CT	TCGA-B8-4143-01A-01D-1806-10	489108	42178134	60353258	69	16032											
CLPX	10845	hgsc.bcm.edu	37	15	65471324	65471324	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr15:65471324C>T	ENST00000300107.3	-	3	494	c.306G>A	c.(304-306)caG>caA	p.Q102Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	102					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GACAGCGCAGCTGGTTTCCAC	0.408																																																0													122	112	115					15																	65471324		2202	4299	6501	SO:0001819	synonymous_variant	10845			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"ATPases / AAA-type"	2088	protein-coding gene	gene with protein product		615611	"ClpX (caseinolytic protease X, E. coli) homolog", "ClpX caseinolytic protease X homolog (E. coli)", "ClpX caseinolytic peptidase X homolog (E. coli)"			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.306G>A	15.37:g.65471324C>T			A1L428|A8K8F1|B9EGI8|Q9H4D9	Silent	SNP	ENST00000300107.3	37	CCDS10202.1																																																																																				0.408	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		T	65471324	C	T	65471324	2	4	265	1	0	0	0	0	0	0	0	1	3558	796	28	2		2	CLPX	15	65471324	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10	23293190	65471324	37060068	70	16033											
TELO2	9894	broad.mit.edu	37	16	1550655	1550655	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr16:1550655C>T	ENST00000262319.6	+	9	1515	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	412					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.V412V(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGGCAGAGGTCGTTAGTGCCC	0.697																																																1	Substitution - coding silent(1)	kidney(1)											38	42	40					16																	1550655		2198	4298	6496	SO:0001819	synonymous_variant	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1236C>T	16.37:g.1550655C>T			D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	CCDS32363.1																																																																																				0.697	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		T	1550655	C	T	1550655	2	4	265	1	0	0	0	0	0	0	0	1	15762	871	31	1		1	TELO2	16	1550655	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10		1550655	88804098	71	16034											
MKL2	57496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	14328057	14328057	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr16:14328057G>A	ENST00000341243.5	+	7	715	c.715G>A	c.(715-717)Gat>Aat	p.D239N	MKL2_ENST00000571589.1_Missense_Mutation_p.D250N|MKL2_ENST00000573051.1_Missense_Mutation_p.D199N|MKL2_ENST00000572567.1_Missense_Mutation_p.D239N|MKL2_ENST00000574045.1_Missense_Mutation_p.D250N|MKL2_ENST00000318282.5_Missense_Mutation_p.D250N			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	239					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D250N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAACTGCAGATCAGCCTCC	0.507																																																1	Substitution - Missense(1)	kidney(1)											137	125	129					16																	14328057		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.715G>A	16.37:g.14328057G>A	ENSP00000345841:p.Asp239Asn		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37		.	.	.	.	.	.	.	.	.	.	G	17.61	3.431476	0.62844	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	.	.	.	5.91	5.91	0.95273	.	0.394695	0.30093	N	0.010440	T	0.56292	0.1975	N	0.24115	0.695	0.50467	D	0.999877	P;D;P;P	0.59767	0.925;0.986;0.704;0.949	P;P;B;P	0.53266	0.691;0.722;0.255;0.544	T	0.50906	-0.8772	9	0.28530	T	0.3	-20.5493	17.4523	0.87595	0.0:0.0:1.0:0.0	.	199;250;239;250	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	N	250;239;239	.	ENSP00000339086:D250N	D	+	1	0	MKL2	14235558	1.000000	0.71417	0.963000	0.40424	0.790000	0.44656	7.418000	0.80167	2.813000	0.96785	0.655000	0.94253	GAT		0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		A	14328057	G	A	14328057	3	1	265	1	0	0	0	0	1	0	0	0	9604	942	33	2	774	2	MKL2	16	14328057	Missense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	12777402	14328057	76026696	72	16035											
HYDIN	54768	broad.mit.edu;ucsc.edu	37	16	70986456	70986456	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr16:70986456C>A	ENST00000393567.2	-	41	6549	c.6399G>T	c.(6397-6399)atG>atT	p.M2133I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2133					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.M2084I(1)|p.M2132I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCACCAGAGTCATCTCGGAGG	0.552																																																2	Substitution - Missense(2)	kidney(2)											50	50	50					16																	70986456		1990	4177	6167	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6399G>T	16.37:g.70986456C>A	ENSP00000377197:p.Met2133Ile		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	8.765	0.924604	0.18056	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00808	5.67	3.91	0.381	0.16228	.	4.496340	0.01093	U	0.005228	T	0.01029	0.0034	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46512	-0.9186	10	0.37606	T	0.19	.	7.1448	0.25577	0.0:0.1652:0.5103:0.3245	.	2132	F8WD23	.	I	2133;2132	ENSP00000377197:M2133I	ENSP00000313052:M2132I	M	-	3	0	HYDIN	69543957	0.014000	0.17966	0.003000	0.11579	0.116000	0.19942	-0.247000	0.08866	0.382000	0.24878	0.195000	0.17529	ATG		0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			A	70986456	C	A	70986456	3	1	265	1	0	0	0	0	1	0	0	0	7469	826	29	4	9150	4	HYDIN	16	70986456	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	56658399	70986456	19368297	73	16036											
GRB7	2886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37899552	37899552	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr17:37899552C>T	ENST00000309156.4	+	5	840	c.583C>T	c.(583-585)Cca>Tca	p.P195S	GRB7_ENST00000394211.3_Missense_Mutation_p.P195S|GRB7_ENST00000445327.2_Missense_Mutation_p.P218S|GRB7_ENST00000394209.2_Missense_Mutation_p.P195S|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394204.1_Missense_Mutation_p.P195S|GRB7_ENST00000309185.3_Missense_Mutation_p.P195S	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	195					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.P195S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAAGAGCTCCCCAGTGAGTGC	0.607																																																1	Substitution - Missense(1)	kidney(1)											94	91	92					17																	37899552		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.583C>T	17.37:g.37899552C>T	ENSP00000310771:p.Pro195Ser		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405392	0.62288	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.59083	0.29;1.45;1.45;1.45;1.43;0.29	5.31	2.01	0.26516	.	0.348813	0.30142	N	0.010312	T	0.52980	0.1768	M	0.68952	2.095	0.58432	D	0.999991	P;P	0.43024	0.798;0.495	B;B	0.35470	0.14;0.203	T	0.61481	-0.7054	10	0.87932	D	0	-2.2747	15.1763	0.72913	0.0:0.5973:0.4027:0.0	.	195;195	Q14451-2;Q14451	.;GRB7_HUMAN	S	195;195;195;195;218;195	ENSP00000311752:P195S;ENSP00000310771:P195S;ENSP00000377761:P195S;ENSP00000377759:P195S;ENSP00000403459:P218S;ENSP00000377754:P195S	ENSP00000310771:P195S	P	+	1	0	GRB7	35153078	0.087000	0.21565	0.975000	0.42487	0.938000	0.57974	0.607000	0.24209	0.304000	0.22809	0.561000	0.74099	CCA		0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		T	37899552	C	T	37899552	3	4	265	1	0	0	0	0	1	0	0	0	6761	623	22	2	597	2	GRB7	17	37899552	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10		37899552	43295658	74	16037											
SOX9	6662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	70120330	70120330	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr17:70120330C>A	ENST00000245479.2	+	3	1704	c.1332C>A	c.(1330-1332)gaC>gaA	p.D444E		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	444					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D444E(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACTACACCGACCACCAGAACT	0.627																																					Pancreas(42;83 1041 2320 35205 39456)											1	Substitution - Missense(1)	kidney(1)											224	203	210					17																	70120330		2203	4300	6503	SO:0001583	missense	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1332C>A	17.37:g.70120330C>A	ENSP00000245479:p.Asp444Glu		Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267332	0.40095	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.98835	-5.17	4.26	2.21	0.28008	.	0.110340	0.64402	N	0.000011	D	0.95300	0.8475	L	0.28054	0.825	0.37314	D	0.909254	B	0.06786	0.001	B	0.08055	0.003	D	0.91505	0.5222	10	0.40728	T	0.16	.	9.806	0.40792	0.1422:0.4452:0.4126:0.0	.	444	P48436	SOX9_HUMAN	E	444;380	ENSP00000245479:D444E	ENSP00000245479:D444E	D	+	3	2	SOX9	67631925	0.971000	0.33674	0.950000	0.38849	0.984000	0.73092	0.458000	0.21892	0.362000	0.24319	0.455000	0.32223	GAC		0.627	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		A	70120330	C	A	70120330	3	1	265	1	0	0	0	0	1	0	0	0	14964	506	18	4	1342	4	SOX9	17	70120330	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	32220778	70120330	11074880	75	16038											
RECQL5	9400	broad.mit.edu;ucsc.edu	37	17	73654527	73654527	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr17:73654527A>C	ENST00000317905.5	-	7	1159	c.1000T>G	c.(1000-1002)Tgg>Ggg	p.W334G	RECQL5_ENST00000420326.2_Missense_Mutation_p.W334G|RECQL5_ENST00000340830.5_Missense_Mutation_p.W334G|RECQL5_ENST00000584999.1_Missense_Mutation_p.W334G|RECQL5_ENST00000423245.2_Missense_Mutation_p.W307G	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	334	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.W307G(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCAATATTCCAATGGGCGACA	0.532								Other identified genes with known or suspected DNA repair function																																								1	Substitution - Missense(1)	kidney(1)											109	109	109					17																	73654527		2203	4300	6503	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1000T>G	17.37:g.73654527A>C	ENSP00000317636:p.Trp334Gly		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057379	0.36277	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.74737	-0.87;-0.87;-0.87	5.84	5.84	0.93424	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88448	0.6439	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.995	D	0.90427	0.4421	10	0.72032	D	0.01	-5.6338	16.2108	0.82158	1.0:0.0:0.0:0.0	.	334;307;334	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	G	334	ENSP00000317636:W334G;ENSP00000414933:W334G;ENSP00000341983:W334G	ENSP00000317636:W334G	W	-	1	0	RECQL5	71166122	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	9.339000	0.96797	2.232000	0.73038	0.533000	0.62120	TGG		0.532	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		C	73654527	A	C	73654527	3	2	265	1	0	0	0	0	1	0	0	0	13209	130	5	5	2118	5	RECQL5	17	73654527	Missense_Mutation	SNP	A	TCGA-B8-4143-01A-01D-1806-10	3534197	73654527	7540683	76	16039											
ANAPC11	51529	broad.mit.edu;hgsc.bcm.edu	37	17	79857246	79857246	+	Intron	SNP	G	G	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr17:79857246G>A	ENST00000575195.2	+	2	289				NPB_ENST00000333383.7_5'Flank|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000579978.1_Intron|NPB_ENST00000573081.1_5'Flank|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000357385.3_Missense_Mutation_p.G80R|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000579133.1_Intron			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G80R(1)		kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCAGCACACCGGATCCCTGAT	0.612																																																1	Substitution - Missense(1)	kidney(1)											85	72	76					17																	79857246		2203	4300	6503	SO:0001627	intron_variant	51529			AF247565	CCDS11789.1, CCDS32769.1, CCDS74180.1	17q25.3	2011-06-15	2008-10-30			ENSG00000141552		"Anaphase promoting complex subunits"	14452	protein-coding gene	gene with protein product		614534	"anaphase promoting complex subunit 11 (yeast APC11 homolog)"			10922056	Standard	NM_001002245		Approved	HSPC214, APC11, Apc11p, MGC882	uc002kby.1	Q9NYG5		ENST00000575195.2:c.110-550G>A	17.37:g.79857246G>A			A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Missense_Mutation	SNP	ENST00000575195.2	37	CCDS11789.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591750	0.28357	.	.	ENSG00000141552	ENST00000357385	.	.	.	1.93	-3.47	0.04753	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.25676	-1.0125	7	0.66056	D	0.02	.	1.451	0.02375	0.1543:0.3918:0.2563:0.1975	.	80	Q9NYG5-2	.	R	80	.	ENSP00000349957:G80R	G	+	1	0	ANAPC11	77450538	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.371000	0.07513	-0.923000	0.03785	-1.412000	0.01120	GGA		0.612	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440106.2	NM_016476		A	79857246	G	A	79857246	1	1	265	0	1	0	0	0	0	0	0	0	600	1117	39	1		1	ANAPC11	17	79857246	Intron	SNP	G	TCGA-B8-4143-01A-01D-1806-10	6202719	79857246	1337964	77	16040											
LILRA3	11026	broad.mit.edu;hgsc.bcm.edu	37	19	54803946	54803946	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr19:54803946C>T	ENST00000251390.3	-	2	158	c.67G>A	c.(67-69)Gca>Aca	p.A23T	LILRA3_ENST00000391745.1_Missense_Mutation_p.A40T|LILRA3_ENST00000391744.3_Missense_Mutation_p.A23T	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	23					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.A23T(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTCACCTGCCTGCACGTGG	0.632																																																1	Substitution - Missense(1)	kidney(1)											82	72	76					19																	54803946		2193	4164	6357	SO:0001583	missense	11026			U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.67G>A	19.37:g.54803946C>T	ENSP00000251390:p.Ala23Thr		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743410	0.30865	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00678	5.9;5.9;5.87	2.5	-4.99	0.03010	Immunoglobulin-like fold (1);	0.506830	0.16440	N	0.214330	T	0.00608	0.0020	L	0.39514	1.22	0.09310	N	0.999997	B;B	0.31077	0.307;0.038	B;B	0.29524	0.103;0.082	T	0.43572	-0.9383	10	0.40728	T	0.16	.	1.9723	0.03409	0.2897:0.1759:0.4091:0.1252	.	23;23	E7EU74;Q8N6C8	.;LIRA3_HUMAN	T	23;23;40	ENSP00000251390:A23T;ENSP00000375624:A23T;ENSP00000375625:A40T	ENSP00000251390:A23T	A	-	1	0	LILRA3	59495758	0.001000	0.12720	0.048000	0.18961	0.719000	0.41307	-1.373000	0.02568	-1.498000	0.01824	0.485000	0.47835	GCA		0.632	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			T	54803946	C	T	54803946	3	4	265	1	0	0	0	0	1	0	0	0	8788	739	26	2	1276	2	LILRA3	19	54803946	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10		54803946	4325037	78	16041											
CENPB	1059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3765589	3765589	+	Silent	SNP	A	A	G			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr20:3765589A>G	ENST00000379751.4	-	1	1748	c.1542T>C	c.(1540-1542)agT>agC	p.S514S	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	514	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)	p.S514S(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						cCTCTTCCTCACTGTCTGAAT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											174	137	149					20																	3765589		2203	4300	6503	SO:0001819	synonymous_variant	1059			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1542T>C	20.37:g.3765589A>G			Q96EI4	Silent	SNP	ENST00000379751.4	37	CCDS13064.1																																																																																				0.567	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		G	3765589	A	G	3765589	2	3	265	1	0	0	0	0	0	0	0	1	3229	156	6	3		3	CENPB	20	3765589	Silent	SNP	A	TCGA-B8-4143-01A-01D-1806-10		3765589	59259931	79	16042											
RBM39	9584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34312531	34312531	+	Silent	SNP	T	T	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr20:34312531T>C	ENST00000253363.6	-	8	671	c.648A>G	c.(646-648)caA>caG	p.Q216Q	RBM39_ENST00000528062.3_Silent_p.Q194Q|RBM39_ENST00000407261.4_Silent_p.Q59Q|RBM39_ENST00000361162.6_Silent_p.Q216Q			Q14498	RBM39_HUMAN	RNA binding motif protein 39	216	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q216Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTAAAACTCGTTGGCCAGTTA	0.418																																																1	Substitution - coding silent(1)	kidney(1)											145	130	135					20																	34312531		2203	4300	6503	SO:0001819	synonymous_variant	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.648A>G	20.37:g.34312531T>C			A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Silent	SNP	ENST00000253363.6	37	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	T	9.786	1.176533	0.21704	.	.	ENSG00000131051	ENST00000448303	.	.	.	5.36	-4.18	0.03846	.	.	.	.	.	T	0.68357	0.2992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69932	-0.5011	4	.	.	.	.	18.2614	0.90037	0.0:0.7688:0.0:0.2312	.	.	.	.	A	89	.	.	T	-	1	0	RBM39	33775945	0.999000	0.42202	0.958000	0.39756	0.986000	0.74619	0.674000	0.25218	-0.689000	0.05149	-0.385000	0.06624	ACG		0.418	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		C	34312531	T	C	34312531	2	2	265	1	0	0	0	0	0	0	0	1	13139	1722	60	3		3	RBM39	20	34312531	Silent	SNP	T	TCGA-B8-4143-01A-01D-1806-10	30546942	34312531	28712989	80	16043											
KRTAP13-1	140258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	31768458	31768458	+	Silent	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr21:31768458C>T	ENST00000355459.2	+	1	67	c.54C>T	c.(52-54)taC>taT	p.Y18Y		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	18						intermediate filament (GO:0005882)		p.Y18Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGGTGGCTACCTGCACTACC	0.557																																																1	Substitution - coding silent(1)	kidney(1)											176	157	163					21																	31768458		2203	4300	6503	SO:0001819	synonymous_variant	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.54C>T	21.37:g.31768458C>T			Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	CCDS13590.2																																																																																				0.557	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			T	31768458	C	T	31768458	2	4	265	1	0	0	0	0	0	0	0	1	8524	518	18	2		2	KRTAP13-1	21	31768458	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10		31768458	16361437	81	16044											
DSCR6	53820	broad.mit.edu	37	21	38390280	38390280	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chr21:38390280T>C	ENST00000329553.2	+	4	556	c.346T>C	c.(346-348)Tct>Cct	p.S116P	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	116					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S116P(1)									CGACGATGAGTCTACTGAGTC	0.567																																																1	Substitution - Missense(1)	kidney(1)											45	43	44					21																	38390280		2203	4300	6503	SO:0001583	missense	53820			AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.346T>C	21.37:g.38390280T>C	ENSP00000331734:p.Ser116Pro			Missense_Mutation	SNP	ENST00000329553.2	37	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960961	0.53400	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.77	3.6	0.41247	.	0.157867	0.43747	D	0.000533	T	0.56790	0.2009	M	0.70275	2.135	0.09310	N	1	D	0.61080	0.989	D	0.63957	0.92	T	0.48019	-0.9071	9	0.49607	T	0.09	.	9.0745	0.36513	0.0:0.0:0.1854:0.8145	.	116	P57055	DSCR6_HUMAN	P	116	.	ENSP00000331734:S116P	S	+	1	0	DSCR6	37312150	0.003000	0.15002	0.018000	0.16275	0.065000	0.16274	0.363000	0.20301	0.912000	0.36772	-0.429000	0.05907	TCT		0.567	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			C	38390280	T	C	38390280	3	2	265	1	0	0	0	0	1	0	0	0	4775	1667	58	3	360	3	DSCR6	21	38390280	Missense_Mutation	SNP	T	TCGA-B8-4143-01A-01D-1806-10	6621822	38390280	9739615	82	16045											
DCAF8L2	347442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	27766775	27766775	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:27766775C>T	ENST00000451261.2	+	5	2162	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	588								p.T555M(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CGTCACGTGACGCAGAGAGGT	0.502																																																1	Substitution - Missense(1)	kidney(1)											89	63	71					X																	27766775		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1763C>T	X.37:g.27766775C>T	ENSP00000462745:p.Thr588Met		B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																				0.502	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		T	27766775	C	T	27766775	3	4	265	1	0	0	0	0	1	0	0	0	4280	536	19	1	1765	1	DCAF8L2	23	27766775	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10		27766775	127503785	83	16046											
HUWE1	10075	broad.mit.edu	37	X	53586385	53586385	+	Silent	SNP	G	G	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:53586385G>T	ENST00000342160.3	-	56	8302	c.7845C>A	c.(7843-7845)atC>atA	p.I2615I	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Silent_p.I2615I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2615					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.I2478I(1)|p.I2615I(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AACGGGCGATGATGTGGACGT	0.572																																																2	Substitution - coding silent(2)	kidney(2)											89	70	77					X																	53586385		2203	4300	6503	SO:0001819	synonymous_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7845C>A	X.37:g.53586385G>T			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466214	0.26335	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.98	3.12	0.35913	.	.	.	.	.	T	0.53706	0.1813	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42599	-0.9442	4	.	.	.	.	5.3056	0.15801	0.2542:0.0:0.6061:0.1397	.	.	.	.	N	1649	.	.	H	-	1	0	HUWE1	53603110	1.000000	0.71417	0.982000	0.44146	0.983000	0.72400	2.623000	0.46435	0.208000	0.20626	0.600000	0.82982	CAT		0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53586385	G	T	53586385	2	4	265	1	0	0	0	0	0	0	0	1	7463	1280	45	4		4	HUWE1	23	53586385	Silent	SNP	G	TCGA-B8-4143-01A-01D-1806-10	25819610	53586385	101684175	84	16047											
KIAA1210	57481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	118217056	118217056	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:118217056G>C	ENST00000402510.2	-	13	4875	c.4876C>G	c.(4876-4878)Cct>Gct	p.P1626A		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1626								p.P1626A(1)|p.P1450A(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATCTTTTTAGGTTGGTTTTCA	0.388																																																2	Substitution - Missense(2)	kidney(2)											204	172	182					X																	118217056		1881	4099	5980	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4876C>G	X.37:g.118217056G>C	ENSP00000384670:p.Pro1626Ala		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.287|6.287	0.421046|0.421046	0.11928|0.11928	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.10005|.	2.92|.	5.07|5.07	-4.8|-4.8	0.03190|0.03190	.|.	.|.	.|.	.|.	.|.	T|T	0.22044|0.22044	0.0531|0.0531	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.08055|.	0.003|.	T|T	0.26121|0.26121	-1.0112|-1.0112	9|5	0.36615|.	T|.	0.2|.	.|.	1.9351|1.9351	0.03335|0.03335	0.3421:0.3495:0.1886:0.1198|0.3421:0.3495:0.1886:0.1198	.|.	1626|.	Q9ULL0|.	K1210_HUMAN|.	A|S	1626|1032	ENSP00000384670:P1626A|.	ENSP00000384670:P1626A|.	P|T	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118101084|118101084	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-1.192000|-1.192000	0.03052|0.03052	-1.332000|-1.332000	0.02249|0.02249	-0.319000|-0.319000	0.08680|0.08680	CCT|ACC		0.388	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		C	118217056	G	C	118217056	3	2	265	1	0	0	0	0	1	0	0	0	8216	1261	44	4	261	4	KIAA1210	23	118217056	Missense_Mutation	SNP	G	TCGA-B8-4143-01A-01D-1806-10	64630671	118217056	37053504	85	16048											
ZBTB33	10009	hgsc.bcm.edu	37	X	119387833	119387834	+	In_Frame_Ins	INS	-	-	TGA	rs201958171|rs77815464|rs59686094		TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:119387833_119387834insTGA	ENST00000326624.2	+	2	791_792	c.563_564insTGA	c.(562-567)tctgat>tcTGAtgat	p.194_195insD	ZBTB33_ENST00000557385.1_In_Frame_Ins_p.194_195insD	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	194					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTTACCGATTCtgatgatgatg	0.396														1942	0.514437	0.2065	0.4078	3775	,	,		15520	0.4494		0.5328	False		,,,				2504	0.4059															0																																										SO:0001652	inframe_insertion	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.579_581dupTGA	X.37:g.119387840_119387842dupTGA	ENSP00000314153:p.Asp194_Asp194dup		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	In_Frame_Ins	INS	ENST00000326624.2	37	CCDS14596.1																																																																																				0.396	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		TGA	119387834	-	TGA	119387833	7	5	265	1	0	1	1	0	0	0	0	0	17541	913	32	0	565	0	ZBTB33	23	119387833	In_Frame_Ins	INS	-	TCGA-B8-4143-01A-01D-1806-10	1170777	119387833	35882727	86	16049											
DDX26B	203522	hgsc.bcm.edu	37	X	134715017	134715017	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:134715017C>T	ENST00000370752.4	+	16	2760	c.2426C>T	c.(2425-2427)cCt>cTt	p.P809L	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	809										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCAAGGACCTCTGGAGATG	0.299																																																0													36	34	35					X																	134715017		2203	4300	6503	SO:0001583	missense	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2426C>T	X.37:g.134715017C>T	ENSP00000359788:p.Pro809Leu		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294314	0.81025	.	.	ENSG00000165359	ENST00000370752	T	0.32753	1.44	4.5	4.5	0.54988	.	0.099676	0.64402	D	0.000001	T	0.50446	0.1616	M	0.79123	2.44	0.58432	D	0.999991	D;P	0.56287	0.975;0.749	P;B	0.55161	0.77;0.439	T	0.58267	-0.7666	10	0.62326	D	0.03	-6.5282	15.9529	0.79859	0.0:1.0:0.0:0.0	.	809;809	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	L	809	ENSP00000359788:P809L	ENSP00000359788:P809L	P	+	2	0	DDX26B	134542683	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.452000	0.66638	2.157000	0.67596	0.594000	0.82650	CCT		0.299	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		T	134715017	C	T	134715017	3	4	265	1	0	0	0	0	1	0	0	0	4355	681	24	2	2488	2	DDX26B	23	134715017	Missense_Mutation	SNP	C	TCGA-B8-4143-01A-01D-1806-10	15327184	134715017	20555543	87	16050											
CLIC2	1193	broad.mit.edu;ucsc.edu	37	X	154563725	154563725	+	Silent	SNP	C	C	A			TCGA-B8-4143-01A-01D-1806-10	TCGA-B8-4143-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb186c78-1052-48ec-97f4-c94bddf0df72	51a86b5e-507a-41c0-b689-4d1fc3f6c507	g.chrX:154563725C>A	ENST00000369449.2	-	1	230	c.12G>T	c.(10-12)ctG>ctT	p.L4L	RP13-228J13.1_ENST00000444722.1_RNA|CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	4	N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)	p.L4L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCCGGGCCGCAGGCCTGACA	0.418																																					Melanoma(108;581 1592 2289 21669 28822)											1	Substitution - coding silent(1)	kidney(1)											97	95	96					X																	154563725		2203	4299	6502	SO:0001819	synonymous_variant	1193			AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"Ion channels / Chloride channels : Intracellular"	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.12G>T	X.37:g.154563725C>A			A8K9S0|O15174|Q5JT80|Q8TCE3	Silent	SNP	ENST00000369449.2	37	CCDS14767.1																																																																																				0.418	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		A	154563725	C	A	154563725	2	1	265	1	0	0	0	0	0	0	0	1	3528	697	25	4		4	CLIC2	23	154563725	Silent	SNP	C	TCGA-B8-4143-01A-01D-1806-10	19848708	154563725	706835	88	16051											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201079330	201079330	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr1:201079330T>G	ENST00000362061.3	-	2	446	c.220A>C	c.(220-222)Atg>Ctg	p.M74L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.M74L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	74					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.M74L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTTCCGGCATGGGCAGGTAC	0.602																																																1	Substitution - Missense(1)	kidney(1)											162	129	140					1																	201079330		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.220A>C	1.37:g.201079330T>G	ENSP00000355192:p.Met74Leu		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	T	9.096	1.003043	0.19121	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97114	-4.25;-4.25	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.95601	0.8570	N	0.26092	0.79	0.45580	D	0.998529	P	0.51933	0.949	P	0.57502	0.822	D	0.93642	0.6965	10	0.10902	T	0.67	.	14.4134	0.67132	0.0:0.0:0.0:1.0	.	74	Q13698	CAC1S_HUMAN	L	74	ENSP00000355192:M74L;ENSP00000356307:M74L	ENSP00000355192:M74L	M	-	1	0	CACNA1S	199345953	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.697000	0.61782	1.934000	0.56057	0.459000	0.35465	ATG		0.602	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		G	201079330	T	G	201079330	3	3	266	1	0	0	0	0	1	0	0	0	2549	1464	51	5	5573	5	CACNA1S	1	201079330	Missense_Mutation	SNP	T	TCGA-B8-4146-01B-11D-1669-08		201079330	48171291	1	16052											
ZNF669	79862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247265092	247265093	+	Splice_Site	DNP	TC	TC	CA			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr1:247265092_247265093TC>CA	ENST00000343381.6	-	3	561_562	c.389_390GA>TG	c.(388-390)gGA>gTG	p.G130V	ZNF669_ENST00000448299.2_Splice_Site_p.G44V|ZNF669_ENST00000358785.4_Intron|ZNF669_ENST00000366501.1_Splice_Site_p.E43*|ZNF669_ENST00000366500.1_Intron	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	130	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G130V(2)|p.G130G(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TCCATTGGCTTCCTAAAATGCA	0.356																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001630	splice_region_variant	79862				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"Zinc fingers, C2H2-type", "-"	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.389_390delinsCA	1.37:g.247265092_247265093delinsCA			B3KP94|Q5VT39|Q9H9Q6	Silent|Missense_Mutation	SNP	ENST00000343381.6	37	CCDS31088.1																																																																																				0.356	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804	Missense_Mutation	CA	247265093	TC	CA	247265092	5	2	266	1	0	0	0	0	0	0	1	0	18081	1797	62	3	1012	3	ZNF669	1	247265092	Splice_Site	DNP	TC	TCGA-B8-4146-01B-11D-1669-08	46185762	247265092	1985529	2	16053											
NLRC4	58484	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32476580	32476580	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr2:32476580T>A	ENST00000404025.2	-	5	841	c.353A>T	c.(352-354)tAt>tTt	p.Y118F	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.Y118F|NLRC4_ENST00000402280.1_Missense_Mutation_p.Y118F			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	118	Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.Y118F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACCAAGGGGATAAAAGTTCAG	0.428																																																1	Substitution - Missense(1)	kidney(1)											58	60	59					2																	32476580		2203	4300	6503	SO:0001583	missense	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.353A>T	2.37:g.32476580T>A	ENSP00000385090:p.Tyr118Phe		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	T	1.802	-0.476944	0.04414	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.50548	0.74;0.74;0.74	3.46	-1.19	0.09585	.	0.548520	0.14651	N	0.306617	T	0.23289	0.0563	N	0.14661	0.345	0.29394	N	0.862405	B	0.02656	0.0	B	0.04013	0.001	T	0.36261	-0.9755	9	0.10902	T	0.67	-3.4236	8.2225	0.31549	0.4596:0.0:0.0:0.5404	.	118	Q9NPP4	NLRC4_HUMAN	F	118	ENSP00000354159:Y118F;ENSP00000385428:Y118F;ENSP00000385090:Y118F	ENSP00000354159:Y118F	Y	-	2	0	NLRC4	32330084	0.997000	0.39634	0.830000	0.32933	0.315000	0.28087	0.519000	0.22862	-0.298000	0.08921	0.443000	0.29094	TAT		0.428	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		A	32476580	T	A	32476580	3	1	266	1	0	0	0	0	1	0	0	0	10471	1406	49	5	2745	5	NLRC4	2	32476580	Missense_Mutation	SNP	T	TCGA-B8-4146-01B-11D-1669-08		32476580	210722793	3	16054											
CACNB4	785	broad.mit.edu;hgsc.bcm.edu	37	2	152709962	152709962	+	Splice_Site	SNP	T	T	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr2:152709962T>C	ENST00000539935.1	-	12	1183	c.1116A>G	c.(1114-1116)ccA>ccG	p.P372P	CACNB4_ENST00000201943.5_Splice_Site_p.P372P|CACNB4_ENST00000360283.6_Splice_Site_p.P339P|CACNB4_ENST00000427385.1_Splice_Site_p.P354P|CACNB4_ENST00000397327.2_Splice_Site_p.P325P|CACNB4_ENST00000534999.1_Splice_Site_p.P338P	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	372					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.P372P(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCATACTTACTGGGGGGCATT	0.358																																																2	Substitution - coding silent(2)	kidney(2)											73	68	70					2																	152709962		1851	4095	5946	SO:0001630	splice_region_variant	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1116+1A>G	2.37:g.152709962T>C			A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	ENST00000539935.1	37	CCDS46426.1																																																																																				0.358	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3	Silent	C	152709962	T	C	152709962	5	2	266	1	0	0	0	0	0	0	1	0	2557	1594	55	3	458	3	CACNB4	2	152709962	Splice_Site	SNP	T	TCGA-B8-4146-01B-11D-1669-08	120233382	152709962	90489411	4	16055											
EOMES	8320	broad.mit.edu	37	3	27763289	27763289	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr3:27763289delT	ENST00000295743.4	-	1	700	c.497delA	c.(496-498)cagfs	p.Q166fs	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_Frame_Shift_Del_p.Q166fs|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	166					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGCCGCCGCCTGGTACGGGAA	0.721																																																0													4	6	5					3																	27763289		2019	4107	6126	SO:0001589	frameshift_variant	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.497delA	3.37:g.27763289delT	ENSP00000295743:p.Gln166fs		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Frame_Shift_Del	DEL	ENST00000295743.4	37	CCDS2646.1																																																																																				0.721	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		-	27763289	T	-	27763289	7	5	266	1	0	1	0	1	0	0	0	0	5149	1580	55	0	1587	0	EOMES	3	27763289	Frame_Shift_Del	DEL	T	TCGA-B8-4146-01B-11D-1669-08		27763289	170259141	5	16056											
SIDT1	54847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113325904	113325904	+	Missense_Mutation	SNP	G	G	C	rs572675919	byFrequency	TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr3:113325904G>C	ENST00000264852.4	+	15	2147	c.1421G>C	c.(1420-1422)gGc>gCc	p.G474A	SIDT1_ENST00000393830.3_Missense_Mutation_p.G474A|SIDT1_ENST00000463226.1_Intron	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	474					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.G474A(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AATGTCACTGGCAACCAGGAC	0.512																																																1	Substitution - Missense(1)	kidney(1)											157	125	136					3																	113325904		2203	4300	6503	SO:0001583	missense	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1421G>C	3.37:g.113325904G>C	ENSP00000264852:p.Gly474Ala		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206037	0.95033	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.31769	1.48;1.48	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	T	0.58337	0.2115	M	0.71871	2.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58869	-0.7560	10	0.66056	D	0.02	-20.2859	19.8411	0.96685	0.0:0.0:1.0:0.0	.	474;474	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	A	474	ENSP00000264852:G474A;ENSP00000377416:G474A	ENSP00000264852:G474A	G	+	2	0	SIDT1	114808594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.789000	0.99068	2.683000	0.91414	0.655000	0.94253	GGC		0.512	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		C	113325904	G	C	113325904	3	2	266	1	0	0	0	0	1	0	0	0	14308	1203	42	4	1479	4	SIDT1	3	113325904	Missense_Mutation	SNP	G	TCGA-B8-4146-01B-11D-1669-08	85562615	113325904	84696526	6	16057											
PEX5L	51555	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	179526182	179526182	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr3:179526182G>A	ENST00000467460.1	-	13	1726	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.H274Y|PEX5L_ENST00000392649.3_Missense_Mutation_p.H358Y|PEX5L_ENST00000476138.1_Missense_Mutation_p.H423Y|PEX5L_ENST00000485199.1_Missense_Mutation_p.H431Y|PEX5L_ENST00000263962.8_Missense_Mutation_p.H464Y|PEX5L_ENST00000472994.1_Missense_Mutation_p.H407Y|PEX5L_ENST00000464614.1_Missense_Mutation_p.H358Y|PEX5L_ENST00000465751.1_Missense_Mutation_p.H442Y	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	466					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.H466Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCATTTTGGTGGGCAGCTTCC	0.398																																																1	Substitution - Missense(1)	kidney(1)											100	104	102					3																	179526182		2203	4300	6503	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1396C>T	3.37:g.179526182G>A	ENSP00000419975:p.His466Tyr		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907290	0.72868	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	6.17	6.17	0.99709	Tetratricopeptide repeat-containing (1);	0.094467	0.85682	D	0.000000	T	0.77818	0.4187	L	0.36672	1.1	0.58432	D	0.999999	P;P;B;D;P;P	0.53745	0.92;0.851;0.006;0.962;0.952;0.936	B;B;B;B;P;B	0.47470	0.221;0.221;0.017;0.281;0.548;0.145	T	0.79022	-0.1973	10	0.72032	D	0.01	-24.529	20.8794	0.99867	0.0:0.0:1.0:0.0	.	407;442;358;464;431;466	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	Y	466;464;431;464;358;274;423;354;407;358;442	ENSP00000419975:H466Y;ENSP00000263962:H464Y;ENSP00000418440:H431Y;ENSP00000376420:H358Y;ENSP00000418665:H274Y;ENSP00000420555:H423Y;ENSP00000418054:H407Y;ENSP00000417270:H358Y;ENSP00000419348:H442Y	ENSP00000263962:H464Y	H	-	1	0	PEX5L	181008876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.409000	0.73289	2.941000	0.99782	0.655000	0.94253	CAC		0.398	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		A	179526182	G	A	179526182	3	1	266	1	0	0	0	0	1	0	0	0	11751	1348	47	2	496	2	PEX5L	3	179526182	Missense_Mutation	SNP	G	TCGA-B8-4146-01B-11D-1669-08	66200278	179526182	18496248	7	16058											
ZNF721	170960	hgsc.bcm.edu;ucsc.edu	37	4	437566	437566	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr4:437566delA	ENST00000338977.5	-	2	702	c.654delT	c.(652-654)tttfs	p.F218fs	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Frame_Shift_Del_p.F230fs|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGGAATGCATAAAGGCTTTCC	0.383																																																0													61	64	63					4																	437566		2109	4261	6370	SO:0001589	frameshift_variant	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.654delT	4.37:g.437566delA	ENSP00000340524:p.Phe218fs		Q69YG7	Frame_Shift_Del	DEL	ENST00000338977.5	37																																																																																					0.383	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		-	437566	A	-	437566	7	5	266	1	0	1	0	1	0	0	0	0	18127	359	13	0	2085	0	ZNF721	4	437566	Frame_Shift_Del	DEL	A	TCGA-B8-4146-01B-11D-1669-08		437566	190716710	8	16059											
KIAA0232	9778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	6843902	6843902	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr4:6843902G>A	ENST00000307659.5	+	4	795	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.V114I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	114							ATP binding (GO:0005524)	p.V114I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ACAGGCTGCTGTCCAGTGTCT	0.353																																																1	Substitution - Missense(1)	kidney(1)											101	107	105					4																	6843902		1832	4090	5922	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.340G>A	4.37:g.6843902G>A	ENSP00000303928:p.Val114Ile		A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370331	0.82573	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.14	5.14	0.70334	.	0.061993	0.64402	D	0.000005	T	0.73497	0.3594	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75326	-0.3357	9	0.56958	D	0.05	-22.1382	18.5814	0.91172	0.0:0.0:1.0:0.0	.	114	Q92628	K0232_HUMAN	I	114	.	ENSP00000303928:V114I	V	+	1	0	KIAA0232	6894803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.165000	0.94761	2.360000	0.80028	0.655000	0.94253	GTC		0.353	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		A	6843902	G	A	6843902	3	1	266	1	0	0	0	0	1	0	0	0	8165	1377	48	2	346	2	KIAA0232	4	6843902	Missense_Mutation	SNP	G	TCGA-B8-4146-01B-11D-1669-08	6406336	6843902	184310374	9	16060											
ZNF518B	85460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	10447375	10447375	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr4:10447375T>C	ENST00000326756.3	-	3	1016	c.578A>G	c.(577-579)gAg>gGg	p.E193G		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	193					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E193G(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GTCACAATACTCACACTGATA	0.403																																																1	Substitution - Missense(1)	kidney(1)											140	143	142					4																	10447375		2203	4300	6503	SO:0001583	missense	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.578A>G	4.37:g.10447375T>C	ENSP00000317614:p.Glu193Gly		Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663407	0.88251	.	.	ENSG00000178163	ENST00000326756	T	0.18657	2.2	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.35480	0.0933	N	0.25890	0.77	0.39921	D	0.974154	D	0.89917	1.0	D	0.87578	0.998	T	0.20605	-1.0270	10	0.87932	D	0	-32.7111	15.9872	0.80168	0.0:0.0:0.0:1.0	.	193	Q9C0D4	Z518B_HUMAN	G	193	ENSP00000317614:E193G	ENSP00000317614:E193G	E	-	2	0	ZNF518B	10056473	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.555000	0.53727	2.367000	0.80283	0.528000	0.53228	GAG		0.403	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		C	10447375	T	C	10447375	3	2	266	1	0	0	0	0	1	0	0	0	17968	1551	54	3	2650	3	ZNF518B	4	10447375	Missense_Mutation	SNP	T	TCGA-B8-4146-01B-11D-1669-08	3603473	10447375	180706901	10	16061											
ANP32C	55016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	165118171	165118172	+	Intron	INS	-	-	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr4:165118171_165118172insT	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				attttcgcttctgacccctttc	0.421																																																0																																										SO:0001627	intron_variant	23520			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85357->A	4.37:g.165118172_165118172dupT			D3DP29|Q9NWR0	Frame_Shift_Ins	INS	ENST00000503008.1	37	CCDS54814.1																																																																																				0.421	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		T	165118172	-	T	165118171	6	5	266	0	1	1	1	0	0	0	0	0	707	912	32	0		0	ANP32C	4	165118171	Intron	INS	-	TCGA-B8-4146-01B-11D-1669-08	154670796	165118171	26036105	11	16062											
HSPA9	3313	broad.mit.edu;hgsc.bcm.edu	37	5	137910976	137910976	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr5:137910976C>A	ENST00000297185.3	-	1	157	c.32G>T	c.(31-33)cGt>cTt	p.R11L		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	11					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.R11L(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCCCACGAGACGGGCTGCTGC	0.682																																																1	Substitution - Missense(1)	kidney(1)											13	18	17					5																	137910976		2191	4280	6471	SO:0001583	missense	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.32G>T	5.37:g.137910976C>A	ENSP00000297185:p.Arg11Leu		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940687	0.52972	.	.	ENSG00000113013	ENST00000297185	T	0.01059	5.39	5.51	5.51	0.81932	.	0.998527	0.08109	N	0.996536	T	0.01189	0.0039	N	0.08118	0	0.40277	D	0.978356	P	0.39748	0.686	B	0.37451	0.25	T	0.73745	-0.3886	10	0.59425	D	0.04	-8.1791	14.7928	0.69854	0.0:1.0:0.0:0.0	.	11	P38646	GRP75_HUMAN	L	11	ENSP00000297185:R11L	ENSP00000297185:R11L	R	-	2	0	HSPA9	137938875	0.995000	0.38212	0.795000	0.32087	0.065000	0.16274	3.892000	0.56235	2.873000	0.98535	0.561000	0.74099	CGT		0.682	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		A	137910976	C	A	137910976	3	1	266	1	0	0	0	0	1	0	0	0	7419	536	19	4	2075	4	HSPA9	5	137910976	Missense_Mutation	SNP	C	TCGA-B8-4146-01B-11D-1669-08		137910976	43004284	12	16063											
BTNL8	79908	hgsc.bcm.edu	37	5	180376249	180376249	+	Silent	SNP	C	C	T	rs149566660	byFrequency	TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr5:180376249C>T	ENST00000340184.4	+	7	1052	c.846C>T	c.(844-846)gaC>gaT	p.D282D	BTNL8_ENST00000400707.3_Silent_p.D157D|BTNL8_ENST00000231229.4_Missense_Mutation_p.R326C|BTNL8_ENST00000508408.1_Missense_Mutation_p.R319C|BTNL8_ENST00000533815.2_Silent_p.D98D|BTNL8_ENST00000511704.1_Silent_p.D166D|BTNL8_ENST00000505126.1_Silent_p.D75D	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	282	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATTGAGAGACGCCCGGAAAC	0.557													C|||	241	0.048123	0.1747	0.0144	5008	,	,		13365	0.0		0.0	False		,,,				2504	0.0															0								C	,,CYS/ARG,,,CYS/ARG	624,3704		98,428,1638	54	66	62		846,498,955,471,294,976	-2.7	0	5	dbSNP_134	62	4,7908		1,2,3953	yes	coding-synonymous,coding-synonymous,missense,coding-synonymous,coding-synonymous,missense	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_001159710.1,NM_024850.2	,,180,,,180	99,430,5591	TT,TC,CC		0.0506,14.4177,5.1307	,,,,,	282/501,166/385,319/341,157/376,98/317,326/348	180376249	628,11612	2164	3956	6120	SO:0001819	synonymous_variant	79908			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.846C>T	5.37:g.180376249C>T			A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	CCDS43413.1	71	0.03250915750915751	67	0.13617886178861788	4	0.011049723756906077	0	0.0	0	0.0	C	2.500	-0.315360	0.05422	0.144177	5.06E-4	ENSG00000113303	ENST00000231229;ENST00000508408	T;T	0.02121	4.44;4.46	1.36	-2.72	0.05968	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42464	-0.9450	7	0.87932	D	0	.	4.726	0.12941	0.0:0.1929:0.2407:0.5664	.	319;326	F2Z2B2;A6NEX6	.;.	C	326;319	ENSP00000231229:R326C;ENSP00000424585:R319C	ENSP00000231229:R326C	R	+	1	0	BTNL8	180308855	0.002000	0.14202	0.005000	0.12908	0.411000	0.31082	-1.344000	0.02639	-2.460000	0.00537	-1.977000	0.00459	CGC		0.557	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		T	180376249	C	T	180376249	2	4	266	1	0	0	0	0	0	0	0	1	1569	536	19	1		1	BTNL8	5	180376249	Silent	SNP	C	TCGA-B8-4146-01B-11D-1669-08	42465273	180376249	539011	13	16064											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56483775	56483775	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr6:56483775G>A	ENST00000370765.6	-	23	5164	c.5057C>T	c.(5056-5058)gCg>gTg	p.A1686V	DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	3756					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.A1686V(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTCAGTTCCGCATTCAGATT	0.393																																																2	Substitution - Missense(2)	kidney(2)											119	126	123					6																	56483775		2202	4300	6502	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5057C>T	6.37:g.56483775G>A	ENSP00000359801:p.Ala1686Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487794	0.26686	.	.	ENSG00000151914	ENST00000370765	T	0.32753	1.44	5.35	5.35	0.76521	.	.	.	.	.	T	0.11750	0.0286	.	.	.	0.09310	N	0.999993	P	0.46859	0.885	B	0.31290	0.127	T	0.09185	-1.0686	7	0.40728	T	0.16	.	15.7739	0.78193	0.0:0.1363:0.8637:0.0	.	1686	Q03001-3	.	V	1686	ENSP00000359801:A1686V	ENSP00000359801:A1686V	A	-	2	0	DST	56591734	0.984000	0.35163	0.146000	0.22360	0.100000	0.18952	4.357000	0.59436	2.661000	0.90470	0.650000	0.86243	GCG		0.393	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		A	56483775	G	A	56483775	3	1	266	1	0	0	0	0	1	0	0	0	4785	1087	38	1	15346	1	DST	6	56483775	Missense_Mutation	SNP	G	TCGA-B8-4146-01B-11D-1669-08		56483775	114631292	14	16065											
PRIM2	5558	broad.mit.edu;hgsc.bcm.edu	37	6	57372299	57372299	+	Silent	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr6:57372299G>A	ENST00000607273.1	+	8	792	c.705G>A	c.(703-705)agG>agA	p.R235R	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	235					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.R235R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TAACAGCCAGGTCCTTGCCTG	0.423																																																1	Substitution - coding silent(1)	kidney(1)											135	121	126					6																	57372299		1915	4145	6060	SO:0001819	synonymous_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.705G>A	6.37:g.57372299G>A			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37																																																																																					0.423	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		A	57372299	G	A	57372299	2	1	266	1	0	0	0	0	0	0	0	1	12496	1252	44	2		2	PRIM2	6	57372299	Silent	SNP	G	TCGA-B8-4146-01B-11D-1669-08	888524	57372299	113742768	15	16066											
ZNF107	51427	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	64168953	64168953	+	Silent	SNP	C	C	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr7:64168953C>T	ENST00000395391.1	+	4	3646	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F	ZNF107_ENST00000344930.3_Silent_p.F757F|ZNF107_ENST00000423627.1_Silent_p.F757F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	757					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F757F(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GCAGAGCTTTCAACCTATCCT	0.348																																																1	Substitution - coding silent(1)	kidney(1)											38	43	41					7																	64168953		2202	4297	6499	SO:0001819	synonymous_variant	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.2271C>T	7.37:g.64168953C>T				Silent	SNP	ENST00000395391.1	37	CCDS5527.1																																																																																				0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		T	64168953	C	T	64168953	2	4	266	1	0	0	0	0	0	0	0	1	17720	825	29	2		2	ZNF107	7	64168953	Silent	SNP	C	TCGA-B8-4146-01B-11D-1669-08		64168953	94969710	16	16067											
CLN8	2055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	1728612	1728612	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr8:1728612C>T	ENST00000331222.4	+	3	987	c.740C>T	c.(739-741)cCa>cTa	p.P247L	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	247	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.P247L(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		ATCATTAATCCATATTGGACC	0.537																																					Pancreas(155;338 1942 6138 10888 50612)											2	Substitution - Missense(2)	kidney(2)											176	147	157					8																	1728612		2203	4300	6503	SO:0001583	missense	2055			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.740C>T	8.37:g.1728612C>T	ENSP00000328182:p.Pro247Leu		Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477210	0.63849	.	.	ENSG00000182372	ENST00000331222	D	0.81579	-1.51	5.17	5.17	0.71159	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.64402	U	0.000014	D	0.87928	0.6301	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84102	0.0396	10	0.06494	T	0.89	-3.7903	18.6661	0.91491	0.0:1.0:0.0:0.0	.	247	Q9UBY8	CLN8_HUMAN	L	247	ENSP00000328182:P247L	ENSP00000328182:P247L	P	+	2	0	CLN8	1716019	1.000000	0.71417	0.192000	0.23308	0.005000	0.04900	7.281000	0.78621	2.400000	0.81607	0.650000	0.86243	CCA		0.537	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		T	1728612	C	T	1728612	3	4	266	1	0	0	0	0	1	0	0	0	3548	594	21	2	746	2	CLN8	8	1728612	Missense_Mutation	SNP	C	TCGA-B8-4146-01B-11D-1669-08		1728612	144635410	17	16068											
PGCP	10404	hgsc.bcm.edu	37	8	97847356	97847357	+	Frame_Shift_Ins	INS	-	-	T	rs373864966|rs113098340		TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr8:97847356_97847357insT	ENST00000220763.5	+	3	799_800	c.589_590insT	c.(589-591)gtgfs	p.V197fs		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	197					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										AGCTGCCAAGGTGGGGGCTTTG	0.48																																																0																																										SO:0001589	frameshift_variant	0			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.590dupT	8.37:g.97847357_97847357dupT	ENSP00000220763:p.Val197fs		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Frame_Shift_Ins	INS	ENST00000220763.5	37	CCDS6273.1																																																																																				0.48	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		T	97847357	-	T	97847356	7	5	266	1	0	1	1	0	0	0	0	0	11788	1261	44	0	595	0	PGCP	8	97847356	Frame_Shift_Ins	INS	-	TCGA-B8-4146-01B-11D-1669-08	96118744	97847356	48516666	18	16069											
ASTN2	23245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	119413893	119413893	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr9:119413893C>G	ENST00000313400.4	-	17	3086	c.2986G>C	c.(2986-2988)Gag>Cag	p.E996Q	ASTN2_ENST00000361477.3_Missense_Mutation_p.E48Q|ASTN2_ENST00000373996.3_Missense_Mutation_p.E992Q|ASTN2_ENST00000288520.5_Missense_Mutation_p.E97Q|ASTN2_ENST00000341734.4_Missense_Mutation_p.E48Q|ASTN2_ENST00000361209.2_Missense_Mutation_p.E945Q|ASTN2_ENST00000358637.4_Missense_Mutation_p.E48Q			O75129	ASTN2_HUMAN	astrotactin 2	996					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.E945Q(1)|p.E48Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTCAGCTGCTCCTTGCCTGGC	0.572																																																2	Substitution - Missense(2)	kidney(2)											90	77	81					9																	119413893		2203	4300	6503	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2986G>C	9.37:g.119413893C>G	ENSP00000314038:p.Glu996Gln		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	19.54	3.845920	0.71603	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477;ENST00000358637	T;T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.48	5.48	0.80851	Membrane attack complex component/perforin (MACPF) domain (1);	0.053045	0.64402	D	0.000001	T	0.53610	0.1807	L	0.38531	1.155	0.58432	D	0.999998	D;D;B;D;D;P;D;D	0.64830	0.988;0.994;0.19;0.991;0.992;0.551;0.994;0.994	P;D;B;P;P;B;D;P	0.62955	0.783;0.909;0.076;0.805;0.778;0.23;0.909;0.783	T	0.44997	-0.9291	9	.	.	.	-25.4431	18.9448	0.92618	0.0:1.0:0.0:0.0	.	48;48;719;945;996;992;48;97	B7ZKP4;B7ZKP5;A2A2T8;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;.;ASTN2_HUMAN;.;.;.	Q	996;992;97;48;719;945;48;48	ENSP00000314038:E996Q;ENSP00000363108:E992Q;ENSP00000288520:E97Q;ENSP00000339925:E48Q;ENSP00000363098:E719Q;ENSP00000354504:E945Q;ENSP00000355116:E48Q;ENSP00000351460:E48Q	.	E	-	1	0	ASTN2	118453714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.631000	0.74277	2.578000	0.87016	0.650000	0.86243	GAG		0.572	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		G	119413893	C	G	119413893	3	3	266	1	0	0	0	0	1	0	0	0	1065	864	30	4	1180	4	ASTN2	9	119413893	Missense_Mutation	SNP	C	TCGA-B8-4146-01B-11D-1669-08		119413893	21799538	19	16070											
KCNMA1	3778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	78872137	78872137	+	Silent	SNP	C	C	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr10:78872137C>A	ENST00000286628.8	-	7	947	c.948G>T	c.(946-948)ggG>ggT	p.G316G	KCNMA1_ENST00000406533.3_Silent_p.G316G|KCNMA1_ENST00000404857.1_Silent_p.G316G|KCNMA1_ENST00000372440.1_Silent_p.G316G|KCNMA1_ENST00000354353.5_Silent_p.G316G|KCNMA1_ENST00000404771.3_Silent_p.G316G|KCNMA1_ENST00000286627.5_Silent_p.G316G|KCNMA1_ENST00000372443.1_Silent_p.G316G	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	316					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.G316G(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AATGGATGAACCCGGCTGCAG	0.458											OREG0020286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - coding silent(2)	kidney(2)											74	65	68					10																	78872137		2203	4300	6503	SO:0001819	synonymous_variant	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.948G>T	10.37:g.78872137C>A		1186	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.845|9.845	1.192009|1.192009	0.21954|0.21954	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372421	T|.	0.07114|.	3.22|.	5.8|5.8	-1.03|-1.03	0.10102|0.10102	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55049|0.55049	0.1896|0.1896	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47341|0.47341	-0.9125|-0.9125	7|4	0.87932|.	D|.	0|.	-11.2713|-11.2713	9.4589|9.4589	0.38772|0.38772	0.0:0.2818:0.5256:0.1925|0.0:0.2818:0.5256:0.1925	.|.	.|.	.|.	.|.	V|F	267|305	ENSP00000361480:G267V|.	ENSP00000361480:G267V|.	G|V	-|-	2|1	0|0	KCNMA1|KCNMA1	78542143|78542143	0.628000|0.628000	0.27138|0.27138	0.981000|0.981000	0.43875|0.43875	0.980000|0.980000	0.70556|0.70556	-0.153000|-0.153000	0.10144|0.10144	-0.474000|-0.474000	0.06862|0.06862	-0.137000|-0.137000	0.14449|0.14449	GGT|GTT		0.458	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		A	78872137	C	A	78872137	2	1	266	1	0	0	0	0	0	0	0	1	8075	494	18	4		4	KCNMA1	10	78872137	Silent	SNP	C	TCGA-B8-4146-01B-11D-1669-08		78872137	56662610	20	16071											
FAM45A	404636	broad.mit.edu;hgsc.bcm.edu	37	10	120877121	120877121	+	Silent	SNP	C	C	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr10:120877121C>A	ENST00000361432.2	+	4	449	c.423C>A	c.(421-423)ggC>ggA	p.G141G	FAM45A_ENST00000535029.1_Silent_p.G141G|FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	141								p.G141G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AAGAAAACGGCTCTTTCCTTA	0.468																																																1	Substitution - coding silent(1)	kidney(1)											109	111	110					10																	120877121		2203	4300	6503	SO:0001819	synonymous_variant	404636			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.423C>A	10.37:g.120877121C>A			B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Silent	SNP	ENST00000361432.2	37	CCDS7609.1																																																																																				0.468	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		A	120877121	C	A	120877121	2	1	266	1	0	0	0	0	0	0	0	1	5566	784	28	4		4	FAM45A	10	120877121	Silent	SNP	C	TCGA-B8-4146-01B-11D-1669-08	42004984	120877121	14657626	21	16072											
LRRC55	219527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56954876	56954876	+	Silent	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr11:56954876G>A	ENST00000497933.1	+	2	1095	c.948G>A	c.(946-948)gtG>gtA	p.V316V		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	286					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V316V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TTGCTTCTGTGGCCACCAACT	0.572																																																1	Substitution - coding silent(1)	kidney(1)											154	107	123					11																	56954876		2201	4296	6497	SO:0001819	synonymous_variant	219527				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.948G>A	11.37:g.56954876G>A			A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	CCDS31539.1																																																																																				0.572	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		A	56954876	G	A	56954876	2	1	266	1	0	0	0	0	0	0	0	1	9013	1335	47	2		2	LRRC55	11	56954876	Silent	SNP	G	TCGA-B8-4146-01B-11D-1669-08		56954876	78051640	22	16073											
SLC22A9	114571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63141417	63141418	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr11:63141417_63141418delTG	ENST00000279178.3	+	4	962_963	c.713_714delTG	c.(712-714)atgfs	p.M238fs	SLC22A9_ENST00000310969.4_Frame_Shift_Del_p.V187fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	238					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACATTGGGAATGTGCCCTTCTG	0.475																																																0																																										SO:0001589	frameshift_variant	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.713_714delTG	11.37:g.63141419_63141420delTG	ENSP00000279178:p.Met238fs		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Del	DEL	ENST00000279178.3	37	CCDS8043.1																																																																																				0.475	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		-	63141418	TG	-	63141417	7	5	266	1	0	1	0	1	0	0	0	0	14467	1464	51	0	727	0	SLC22A9	11	63141417	Frame_Shift_Del	DEL	TG	TCGA-B8-4146-01B-11D-1669-08	6186541	63141417	71865099	23	16074											
CCDC82	79780	broad.mit.edu;ucsc.edu	37	11	96092231	96092231	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr11:96092231C>T	ENST00000278520.5	-	8	1920	c.1492G>A	c.(1492-1494)Gtt>Att	p.V498I	CCDC82_ENST00000542662.1_Missense_Mutation_p.V498I|CCDC82_ENST00000423339.2_Missense_Mutation_p.V498I			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	498								p.V498I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCATCTTCAACTTCTTCTGTC	0.353																																																1	Substitution - Missense(1)	kidney(1)											181	176	178					11																	96092231		2200	4298	6498	SO:0001583	missense	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1492G>A	11.37:g.96092231C>T	ENSP00000278520:p.Val498Ile		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653173	0.14580	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.24350	1.86;1.86;1.86	5.78	2.79	0.32731	.	0.730538	0.13159	N	0.409253	T	0.13372	0.0324	L	0.29908	0.895	0.09310	N	1	B	0.18741	0.03	B	0.15870	0.014	T	0.30446	-0.9978	10	0.12766	T	0.61	-2.0087	1.529	0.02531	0.1736:0.4407:0.2029:0.1828	.	498	Q8N4S0	CCD82_HUMAN	I	498	ENSP00000278520:V498I;ENSP00000444010:V498I;ENSP00000397156:V498I	ENSP00000278520:V498I	V	-	1	0	CCDC82	95731879	0.000000	0.05858	0.028000	0.17463	0.769000	0.43574	-0.057000	0.11768	0.839000	0.34971	0.655000	0.94253	GTT		0.353	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		T	96092231	C	T	96092231	3	4	266	1	0	0	0	0	1	0	0	0	2858	565	20	2	150	2	CCDC82	11	96092231	Missense_Mutation	SNP	C	TCGA-B8-4146-01B-11D-1669-08	32950814	96092231	38914285	24	16075											
OVCH1	341350	broad.mit.edu;hgsc.bcm.edu	37	12	29640641	29640641	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr12:29640641G>C	ENST00000318184.5	-	7	876	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	293	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.Q293E(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AACAGGTTTtgagtgataaaa	0.413																																																1	Substitution - Missense(1)	kidney(1)											54	52	52					12																	29640641		1890	4114	6004	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.877C>G	12.37:g.29640641G>C	ENSP00000326708:p.Gln293Glu			Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	G	0.225	-1.025303	0.02061	.	.	ENSG00000187950	ENST00000318184	D	0.92495	-3.05	2.66	1.76	0.24704	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	T	0.78438	0.4283	N	0.04805	-0.155	0.09310	N	1	P	0.48764	0.915	B	0.44108	0.441	T	0.73235	-0.4047	9	0.02654	T	1	.	5.2931	0.15737	0.1622:0.0:0.8378:0.0	.	293	Q7RTY7	OVCH1_HUMAN	E	293	ENSP00000326708:Q293E	ENSP00000326708:Q293E	Q	-	1	0	OVCH1	29531908	0.074000	0.21230	0.158000	0.22627	0.529000	0.34654	1.261000	0.32980	0.685000	0.31468	0.655000	0.94253	CAA		0.413	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		C	29640641	G	C	29640641	3	2	266	1	0	0	0	0	1	0	0	0	11325	1299	45	4	2615	4	OVCH1	12	29640641	Missense_Mutation	SNP	G	TCGA-B8-4146-01B-11D-1669-08		29640641	104211254	25	16076											
ASB8	140461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48543458	48543458	+	Silent	SNP	T	T	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr12:48543458T>C	ENST00000317697.3	-	4	727	c.558A>G	c.(556-558)acA>acG	p.T186T	ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536549.1_Silent_p.T186T|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	186					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.T186T(1)		breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGGAGATGGGTGTCTGGCCTA	0.532																																																1	Substitution - coding silent(1)	kidney(1)											64	64	64					12																	48543458		2203	4300	6503	SO:0001819	synonymous_variant	140461			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"Ankyrin repeat domain containing"	17183	protein-coding gene	gene with protein product		615053	"ankyrin repeat and SOCS box-containing 8"			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.558A>G	12.37:g.48543458T>C			A8K1P2|Q547Q2	Silent	SNP	ENST00000317697.3	37	CCDS8761.1																																																																																				0.532	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			C	48543458	T	C	48543458	2	2	266	1	0	0	0	0	0	0	0	1	1029	1683	59	3		3	ASB8	12	48543458	Silent	SNP	T	TCGA-B8-4146-01B-11D-1669-08	18902817	48543458	85308437	26	16077											
MLL2	8085	broad.mit.edu	37	12	49427700	49427700	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr12:49427700delC	ENST00000301067.7	-	39	10787	c.10788delG	c.(10786-10788)cggfs	p.R3596fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3596	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										gctgctTGTTCCGATATTCTG	0.582																																																0													12	11	12					12																	49427700		2169	4237	6406	SO:0001589	frameshift_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10788delG	12.37:g.49427700delC	ENSP00000301067:p.Arg3596fs		O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	CCDS44873.1																																																																																				0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			-	49427700	C	-	49427700	7	5	266	1	0	1	0	1	0	0	0	0	9623	842	30	0	5889	0	MLL2	12	49427700	Frame_Shift_Del	DEL	C	TCGA-B8-4146-01B-11D-1669-08	884242	49427700	84424195	27	16078											
HOXC8	3224	hgsc.bcm.edu;ucsc.edu	37	12	54403350	54403350	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr12:54403350delC	ENST00000040584.4	+	1	519	c.282delC	c.(280-282)ctcfs	p.L94fs	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	94					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						ACGAGGCGCTCCCCAGACAGT	0.587																																					GBM(197;701 2226 7002 18822 41696)											0													117	124	122					12																	54403350		2203	4300	6503	SO:0001589	frameshift_variant	3224			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"Homeoboxes / ANTP class : HOXL subclass"	5129	protein-coding gene	gene with protein product		142970	"homeo box C8"	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.282delC	12.37:g.54403350delC	ENSP00000040584:p.Leu94fs		A8K4J4|O15221|O15362	Frame_Shift_Del	DEL	ENST00000040584.4	37	CCDS8870.1																																																																																				0.587	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2			-	54403350	C	-	54403350	7	5	266	1	0	1	0	1	0	0	0	0	7318	842	30	0	284	0	HOXC8	12	54403350	Frame_Shift_Del	DEL	C	TCGA-B8-4146-01B-11D-1669-08	4975650	54403350	79448545	28	16079											
CHD8	57680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21875113	21875113	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr14:21875113G>C	ENST00000557364.1	-	14	3072	c.2809C>G	c.(2809-2811)Ctt>Gtt	p.L937V	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.L937V|CHD8_ENST00000430710.3_Missense_Mutation_p.L658V			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	937	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.L937V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATTTCACGAAGCTCAGGACAA	0.453																																																1	Substitution - Missense(1)	kidney(1)											74	68	70					14																	21875113		1969	4151	6120	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2809C>G	14.37:g.21875113G>C	ENSP00000451601:p.Leu937Val		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.419030|4.419030	0.83559|0.83559	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.94046	.|-3.34;-3.34;-3.34	5.41|5.41	5.41|5.41	0.78517|0.78517	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97324|0.97324	0.9125|0.9125	M|M	0.90650|0.90650	3.135|3.135	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|0.995;1.0	.|D;D	.|0.80764	.|0.955;0.994	D|D	0.97777|0.97777	1.0230|1.0230	5|10	.|0.87932	.|D	.|0	-17.1973|-17.1973	18.1343|18.1343	0.89612|0.89612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|937;658	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	G|V	162|658;937;657;937	.|ENSP00000406288:L658V;ENSP00000382863:L937V;ENSP00000451601:L937V	.|ENSP00000262707:L657V	A|L	-|-	2|1	0|0	CHD8|CHD8	20944953|20944953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.400000|3.400000	0.52594|0.52594	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	GCT|CTT		0.453	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		C	21875113	G	C	21875113	3	2	266	1	0	0	0	0	1	0	0	0	3333	971	34	4	5036	4	CHD8	14	21875113	Missense_Mutation	SNP	G	TCGA-B8-4146-01B-11D-1669-08		21875113	85474427	29	16080											
ARF6	382	broad.mit.edu;hgsc.bcm.edu	37	14	50360965	50360965	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr14:50360965T>A	ENST00000298316.5	+	2	1058	c.511T>A	c.(511-513)Tct>Act	p.S171T		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	171					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)	p.S171T(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					ATGGTTAACCTCTAACTACAA	0.502																																																1	Substitution - Missense(1)	kidney(1)											20	20	20					14																	50360965		2200	4297	6497	SO:0001583	missense	382				CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"ADP-ribosylation factors"	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.511T>A	14.37:g.50360965T>A	ENSP00000298316:p.Ser171Thr		P26438|Q6FGZ2	Missense_Mutation	SNP	ENST00000298316.5	37	CCDS9695.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.851773	0.32699	.	.	ENSG00000165527	ENST00000298316	D	0.82711	-1.64	4.8	4.8	0.61643	.	0.059478	0.64402	D	0.000001	T	0.73233	0.3561	N	0.21545	0.675	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.68845	-0.5301	10	0.40728	T	0.16	-1.3956	14.3555	0.66735	0.0:0.0:0.0:1.0	.	171	P62330	ARF6_HUMAN	T	171	ENSP00000298316:S171T	ENSP00000298316:S171T	S	+	1	0	ARF6	49430715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.011000	0.88624	1.793000	0.52555	0.402000	0.26972	TCT		0.502	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276883.1	NM_001663		A	50360965	T	A	50360965	3	1	266	1	0	0	0	0	1	0	0	0	848	1551	54	5	513	5	ARF6	14	50360965	Missense_Mutation	SNP	T	TCGA-B8-4146-01B-11D-1669-08	28485852	50360965	56988575	30	16081											
CDAN1	146059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43026449	43026449	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr15:43026449G>C	ENST00000356231.3	-	7	1255	c.1232C>G	c.(1231-1233)gCt>gGt	p.A411G		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	411					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A411G(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTCATAGGCAGCTCGAAGGCG	0.552																																																1	Substitution - Missense(1)	kidney(1)											80	76	78					15																	43026449		2203	4299	6502	SO:0001583	missense	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1232C>G	15.37:g.43026449G>C	ENSP00000348564:p.Ala411Gly		Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216164	0.39201	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87103	-2.21	5.44	4.44	0.53790	.	0.395476	0.26753	N	0.022668	D	0.82416	0.5032	L	0.40543	1.245	0.29634	N	0.84522	B	0.32467	0.372	B	0.33392	0.163	T	0.79047	-0.1963	10	0.38643	T	0.18	-8.3488	15.2223	0.73320	0.0:0.0:0.7878:0.2122	.	411	Q8IWY9	CDAN1_HUMAN	G	411;409	ENSP00000348564:A411G	ENSP00000267892:A409G	A	-	2	0	CDAN1	40813741	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	2.521000	0.45563	2.553000	0.86117	0.563000	0.77884	GCT		0.552	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		C	43026449	G	C	43026449	3	2	266	1	0	0	0	0	1	0	0	0	3056	971	34	4	2539	4	CDAN1	15	43026449	Missense_Mutation	SNP	G	TCGA-B8-4146-01B-11D-1669-08		43026449	59504943	31	16082											
LIPC	3990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	58834808	58834808	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr15:58834808G>A	ENST00000356113.6	+	6	1147	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	LIPC_ENST00000433326.2_Missense_Mutation_p.G117S|LIPC_ENST00000414170.3_Missense_Mutation_p.G178S|LIPC_ENST00000299022.5_Missense_Mutation_p.G178S			P11150	LIPC_HUMAN	lipase, hepatic	178					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.G178S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AGGATTTGCCGGCAGTTCCAT	0.532																																																1	Substitution - Missense(1)	kidney(1)											202	170	181					15																	58834808		2192	4292	6484	SO:0001583	missense	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.532G>A	15.37:g.58834808G>A	ENSP00000348425:p.Gly178Ser		A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414338	0.96092	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	4.91	4.91	0.64330	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	D	0.99806	1.1038	10	0.87932	D	0	.	18.4464	0.90685	0.0:0.0:1.0:0.0	.	117;178	E7EUK6;P11150	.;LIPC_HUMAN	S	178;178;178;117	ENSP00000348425:G178S;ENSP00000395569:G178S;ENSP00000299022:G178S;ENSP00000395002:G117S	ENSP00000299022:G178S	G	+	1	0	LIPC	56622100	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.721000	0.98766	2.442000	0.82660	0.655000	0.94253	GGC		0.532	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			A	58834808	G	A	58834808	3	1	266	1	0	0	0	0	1	0	0	0	8822	1116	39	1	546	1	LIPC	15	58834808	Missense_Mutation	SNP	G	TCGA-B8-4146-01B-11D-1669-08	15808359	58834808	43696584	32	16083											
SH2D7	646892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78393416	78393416	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr15:78393416A>G	ENST00000328828.5	+	5	821	c.821A>G	c.(820-822)tAc>tGc	p.Y274C	SH2D7_ENST00000409568.2_Missense_Mutation_p.Y138C	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	274								p.Y274C(1)|p.Y138C(1)		endometrium(2)|kidney(2)|lung(3)	7						AGCCAGGCCTACTCCCCAGGC	0.627																																																2	Substitution - Missense(2)	kidney(2)											24	28	27					15																	78393416		1948	4138	6086	SO:0001583	missense	646892				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.821A>G	15.37:g.78393416A>G	ENSP00000327846:p.Tyr274Cys			Missense_Mutation	SNP	ENST00000328828.5	37	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	A	0.098	-1.156646	0.01686	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.27256	1.68;1.8	4.17	-2.18	0.07037	.	0.923259	0.09072	N	0.852644	T	0.06416	0.0165	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	10	0.15499	T	0.54	-0.5905	1.352	0.02174	0.1998:0.3138:0.3264:0.16	.	274	A6NKC9	SH2D7_HUMAN	C	138;274	ENSP00000386676:Y138C;ENSP00000327846:Y274C	ENSP00000327846:Y274C	Y	+	2	0	SH2D7	76180471	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	0.026000	0.13599	-0.105000	0.12132	-0.337000	0.08149	TAC		0.627	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404		G	78393416	A	G	78393416	3	3	266	1	0	0	0	0	1	0	0	0	14245	391	14	3	839	3	SH2D7	15	78393416	Missense_Mutation	SNP	A	TCGA-B8-4146-01B-11D-1669-08	19558608	78393416	24137976	33	16084											
CPEB1	64506	broad.mit.edu	37	15	83215272	83215272	+	Splice_Site	SNP	C	C	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr15:83215272C>A	ENST00000562019.1	-	11	1826		c.e11-1		CPEB1_ENST00000423133.2_Splice_Site|CPEB1_ENST00000568757.1_Splice_Site|CPEB1_ENST00000398591.2_Splice_Site|RP11-152F13.10_ENST00000562833.1_Splice_Site|CPEB1_ENST00000398592.2_Splice_Site|CPEB1_ENST00000564522.1_Splice_Site|CPEB1_ENST00000568128.1_Splice_Site|CPEB1_ENST00000450751.2_Splice_Site|CPEB1_ENST00000563800.1_Splice_Site|CPEB1_ENST00000261723.6_Splice_Site|RP11-379H8.1_ENST00000568285.1_Intron			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1						cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.?(2)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAATCTGAACCTGCACAAAGG	0.483																																																2	Unknown(2)	kidney(2)											61	63	63					15																	83215272		1937	4139	6076	SO:0001630	splice_region_variant	64506			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1510-1G>T	15.37:g.83215272C>A			B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Splice_Site	SNP	ENST00000562019.1	37		.	.	.	.	.	.	.	.	.	.	.	22.5	4.304366	0.81136	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3651	0.90388	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPEB1	81012327	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.069000	0.76755	2.396000	0.81511	0.563000	0.77884	.		0.483	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594	Intron	A	83215272	C	A	83215272	5	1	266	1	0	0	0	0	0	0	1	0	3802	695	24	4	199	4	CPEB1	15	83215272	Splice_Site	SNP	C	TCGA-B8-4146-01B-11D-1669-08	4821856	83215272	19316120	34	16085											
ATP2A1	487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28898565	28898565	+	Silent	SNP	C	C	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr16:28898565C>A	ENST00000357084.3	+	7	867	c.600C>A	c.(598-600)gtC>gtA	p.V200V	ATP2A1_ENST00000395503.4_Silent_p.V200V|ATP2A1_ENST00000536376.1_Silent_p.V75V	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	200					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.V200V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCCGAGCTGTCAACCAGGACA	0.557																																																1	Substitution - coding silent(1)	kidney(1)											107	103	104					16																	28898565		2197	4300	6497	SO:0001819	synonymous_variant	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.600C>A	16.37:g.28898565C>A			A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	CCDS10643.1																																																																																				0.557	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		A	28898565	C	A	28898565	2	1	266	1	0	0	0	0	0	0	0	1	1136	813	29	4		4	ATP2A1	16	28898565	Silent	SNP	C	TCGA-B8-4146-01B-11D-1669-08		28898565	61456188	35	16086											
SREBF1	6720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	17723754	17723754	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr17:17723754C>T	ENST00000261646.5	-	2	357	c.173G>A	c.(172-174)gGc>gAc	p.G58D	SREBF1_ENST00000395757.1_5'Flank|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000355815.4_Missense_Mutation_p.G88D|SREBF1_ENST00000435530.2_Missense_Mutation_p.G58D|SREBF1_ENST00000338854.5_Missense_Mutation_p.G58D	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	58	Transcriptional activation (acidic).				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)	p.G88D(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGGGTCTGTGCCCCCTGCCCC	0.587																																																1	Substitution - Missense(1)	kidney(1)											59	53	55					17																	17723754		2203	4300	6503	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.173G>A	17.37:g.17723754C>T	ENSP00000261646:p.Gly58Asp		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	C	2.438	-0.329186	0.05314	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000418712;ENST00000435530	T;T;T;T	0.77620	0.62;0.64;0.63;-1.11	3.94	-1.48	0.08745	.	1.301090	0.05083	N	0.483828	T	0.57095	0.2030	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.06405	0.0;0.0;0.001;0.002	T	0.28267	-1.0049	10	0.16420	T	0.52	-3.1962	1.4403	0.02353	0.1473:0.4129:0.1457:0.2942	.	58;34;58;88	B0I4X3;B0I4X4;P36956;P36956-4	.;.;SRBP1_HUMAN;.	D	58;88;58;34;58	ENSP00000345822:G58D;ENSP00000348069:G88D;ENSP00000261646:G58D;ENSP00000413389:G58D	ENSP00000261646:G58D	G	-	2	0	SREBF1	17664479	0.000000	0.05858	0.004000	0.12327	0.114000	0.19823	-0.107000	0.10873	-0.340000	0.08388	0.555000	0.69702	GGC		0.587	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		T	17723754	C	T	17723754	3	4	266	1	0	0	0	0	1	0	0	0	15146	739	26	2	3342	2	SREBF1	17	17723754	Missense_Mutation	SNP	C	TCGA-B8-4146-01B-11D-1669-08		17723754	63471456	36	16087											
MED13	9969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60028244	60028244	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr17:60028244G>C	ENST00000397786.2	-	28	6309	c.6233C>G	c.(6232-6234)cCt>cGt	p.P2078R		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2078					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P2078R(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAACCAGTCAGGTAATGGACC	0.428																																																1	Substitution - Missense(1)	kidney(1)											155	141	145					17																	60028244		1946	4166	6112	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6233C>G	17.37:g.60028244G>C	ENSP00000380888:p.Pro2078Arg		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884350	0.91814	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.95885	-3.84	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98298	1.0517	10	0.87932	D	0	-18.5642	20.5792	0.99380	0.0:0.0:1.0:0.0	.	2078	Q9UHV7	MED13_HUMAN	R	2078;2077	ENSP00000380888:P2078R	ENSP00000262436:P2077R	P	-	2	0	MED13	57383026	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.433000	0.97501	2.873000	0.98535	0.561000	0.74099	CCT		0.428	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		C	60028244	G	C	60028244	3	2	266	1	0	0	0	0	1	0	0	0	9432	1000	35	4	303	4	MED13	17	60028244	Missense_Mutation	SNP	G	TCGA-B8-4146-01B-11D-1669-08	42304490	60028244	21166966	37	16088											
EVPL	2125	broad.mit.edu;hgsc.bcm.edu	37	17	74018281	74018281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr17:74018281G>A	ENST00000301607.3	-	6	887	c.634C>T	c.(634-636)Cga>Tga	p.R212*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.R212*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	212	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.R212*(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGTAGGTCTCGGTATTGGCTC	0.697																																																1	Substitution - Nonsense(1)	kidney(1)											27	30	29					17																	74018281		2202	4299	6501	SO:0001587	stop_gained	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.634C>T	17.37:g.74018281G>A	ENSP00000301607:p.Arg212*		A0AUV5	Nonsense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	38	7.069588	0.98040	.	.	ENSG00000167880	ENST00000301607	.	.	.	4.17	0.736	0.18307	.	0.545138	0.17893	N	0.158452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0247	7.5942	0.28037	0.0:0.1518:0.3822:0.466	.	.	.	.	X	212	.	ENSP00000301607:R212X	R	-	1	2	EVPL	71529876	0.316000	0.24580	0.991000	0.47740	0.935000	0.57460	0.386000	0.20702	-0.028000	0.13850	0.462000	0.41574	CGA		0.697	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		A	74018281	G	A	74018281	4	1	266	1	0	0	0	0	0	1	0	0	5294	1124	39	1	5535	1	EVPL	17	74018281	Nonsense_Mutation	SNP	G	TCGA-B8-4146-01B-11D-1669-08	13990037	74018281	7176929	38	16089											
OR7C1	26664	hgsc.bcm.edu	37	19	14910636	14910636	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr19:14910636T>A	ENST00000248073.2	-	1	387	c.313A>T	c.(313-315)Act>Tct	p.T105S	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	105					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CCAAATGAAGTGAAAAAAAAA	0.448																																																0													61	61	61					19																	14910636		2203	4300	6503	SO:0001583	missense	26664			X89676	CCDS12317.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.313A>T	19.37:g.14910636T>A	ENSP00000248073:p.Thr105Ser		Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	t	10.63	1.405146	0.25378	.	.	ENSG00000127530	ENST00000248073	T	0.00551	6.65	3.64	-7.27	0.01461	GPCR, rhodopsin-like superfamily (1);	1.894480	0.04019	U	0.299560	T	0.00328	0.0010	N	0.10916	0.065	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.47032	-0.9148	10	0.59425	D	0.04	.	3.7298	0.08488	0.2428:0.0854:0.4927:0.1792	.	105	O76099	OR7C1_HUMAN	S	105	ENSP00000248073:T105S	ENSP00000248073:T105S	T	-	1	0	OR7C1	14771636	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.800000	0.00761	-1.936000	0.01048	-0.613000	0.04052	ACT		0.448	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			A	14910636	T	A	14910636	3	1	266	1	0	0	0	0	1	0	0	0	11219	1696	59	5	651	5	OR7C1	19	14910636	Missense_Mutation	SNP	T	TCGA-B8-4146-01B-11D-1669-08		14910636	44218347	39	16090											
ABHD8	79575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17405546	17405546	+	Silent	SNP	G	G	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr19:17405546G>T	ENST00000247706.3	-	3	1109	c.870C>A	c.(868-870)atC>atA	p.I290I	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	290							hydrolase activity (GO:0016787)	p.I290I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCATGTTGAAGATTGAGCAGA	0.597																																					Ovarian(156;1368 2543 15275 41187)											1	Substitution - coding silent(1)	kidney(1)											94	74	81					19																	17405546		2203	4300	6503	SO:0001819	synonymous_variant	79575			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.870C>A	19.37:g.17405546G>T			Q9HAE9	Silent	SNP	ENST00000247706.3	37	CCDS12355.1																																																																																				0.597	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		T	17405546	G	T	17405546	2	4	266	1	0	0	0	0	0	0	0	1	87	932	33	4		4	ABHD8	19	17405546	Silent	SNP	G	TCGA-B8-4146-01B-11D-1669-08	2494910	17405546	41723437	40	16091											
ZBED4	9889	broad.mit.edu;hgsc.bcm.edu	37	22	50279076	50279076	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr22:50279076G>C	ENST00000216268.5	+	2	2243	c.1766G>C	c.(1765-1767)gGg>gCg	p.G589A		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	589						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G589A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATCAGCCGGGGGAAGAAGCCG	0.522																																																1	Substitution - Missense(1)	kidney(1)											52	59	57					22																	50279076		2203	4300	6503	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1766G>C	22.37:g.50279076G>C	ENSP00000216268:p.Gly589Ala		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747831	0.69533	.	.	ENSG00000100426	ENST00000216268	T	0.49139	0.79	5.37	5.37	0.77165	Zinc finger, BED-type predicted (3);	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66139	-0.5998	10	0.52906	T	0.07	-42.191	19.117	0.93344	0.0:0.0:1.0:0.0	.	589	O75132	ZBED4_HUMAN	A	589	ENSP00000216268:G589A	ENSP00000216268:G589A	G	+	2	0	ZBED4	48665080	1.000000	0.71417	0.952000	0.39060	0.282000	0.26991	9.226000	0.95229	2.516000	0.84829	0.655000	0.94253	GGG		0.522	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		C	50279076	G	C	50279076	3	2	266	1	0	0	0	0	1	0	0	0	17525	1232	43	4	1768	4	ZBED4	22	50279076	Missense_Mutation	SNP	G	TCGA-B8-4146-01B-11D-1669-08		50279076	1025490	41	16092											
TEX13A	56157	hgsc.bcm.edu	37	X	104464282	104464282	+	Splice_Site	DEL	C	C	-	rs56118606|rs367644904		TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chrX:104464282delC	ENST00000413579.1	-	4	706	c.595delG	c.(595-597)gat>at	p.D199fs	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Frame_Shift_Del_p.G199fs|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Frame_Shift_Del_p.G199fs			Q9BXU3	TX13A_HUMAN	testis expressed 13A	199							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTCCAACATCCCCTCTGCTC	0.652																																																0													3	4	4					X																	104464282		1657	3597	5254	SO:0001630	splice_region_variant	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.595-1G>-	X.37:g.104464282delC			B1B1G8|Q32NB6	Frame_Shift_Del	DEL	ENST00000413579.1	37																																																																																					0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274	Frame_Shift_Del	-	104464282	C	-	104464282	8	5	266	1	0	1	0	1	0	0	1	0	15781	855	30	0	639	0	TEX13A	23	104464282	Splice_Site	DEL	C	TCGA-B8-4146-01B-11D-1669-08		104464282	50806278	42	16093											
KLHL13	90293	hgsc.bcm.edu;ucsc.edu	37	X	117032986	117032986	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chrX:117032986delT	ENST00000262820.3	-	7	2762	c.1853delA	c.(1852-1854)aagfs	p.K618fs	KLHL13_ENST00000371882.1_Frame_Shift_Del_p.K567fs|KLHL13_ENST00000545703.1_Frame_Shift_Del_p.K576fs|KLHL13_ENST00000371878.1_Frame_Shift_Del_p.K567fs|KLHL13_ENST00000371876.1_Frame_Shift_Del_p.K567fs|KLHL13_ENST00000541812.1_Frame_Shift_Del_p.K602fs|KLHL13_ENST00000540167.1_Frame_Shift_Del_p.K602fs|KLHL13_ENST00000539496.1_Frame_Shift_Del_p.K621fs|KLHL13_ENST00000469946.1_Frame_Shift_Del_p.K567fs	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	618					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATCAAAAACCTTATGCCATTC	0.418																																																0													197	170	180					X																	117032986		2203	4300	6503	SO:0001589	frameshift_variant	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1853delA	X.37:g.117032986delT	ENSP00000262820:p.Lys618fs		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Frame_Shift_Del	DEL	ENST00000262820.3	37	CCDS14571.1																																																																																				0.418	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		-	117032986	T	-	117032986	7	5	266	1	0	1	0	1	0	0	0	0	8371	1609	56	0	118	0	KLHL13	23	117032986	Frame_Shift_Del	DEL	T	TCGA-B8-4146-01B-11D-1669-08	12568704	117032986	38237574	43	16094											
MAGI3	260425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	114184768	114184768	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr1:114184768G>T	ENST00000307546.9	+	10	1671	c.1596G>T	c.(1594-1596)aaG>aaT	p.K532N	MAGI3_ENST00000369615.1_Missense_Mutation_p.K532N|MAGI3_ENST00000369617.4_Missense_Mutation_p.K557N|MAGI3_ENST00000369611.4_Missense_Mutation_p.K532N	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	557					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGATTTTAAGCCAGGAGCAA	0.468																																																0													129	127	128					1																	114184768		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1596G>T	1.37:g.114184768G>T	ENSP00000304604:p.Lys532Asn		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162102	0.38217	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.16073	2.52;2.37;2.51;2.51	5.6	2.18	0.27775	.	0.178001	0.64402	D	0.000011	T	0.07593	0.0191	L	0.40543	1.245	0.35191	D	0.773379	P;B;B	0.47106	0.89;0.261;0.23	P;B;B	0.46796	0.527;0.076;0.098	T	0.11817	-1.0572	10	0.52906	T	0.07	-9.7537	5.3932	0.16255	0.572:0.0:0.428:0.0	.	532;532;557	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	N	557;532;532;532	ENSP00000358630:K557N;ENSP00000304604:K532N;ENSP00000358628:K532N;ENSP00000358624:K532N	ENSP00000304604:K532N	K	+	3	2	MAGI3	113986291	0.973000	0.33851	0.994000	0.49952	0.992000	0.81027	1.712000	0.37940	0.815000	0.34398	0.650000	0.86243	AAG		0.468	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		T	114184768	G	T	114184768	3	4	267	1	0	0	0	0	1	0	0	0	9194	962	34	4	1634	4	MAGI3	1	114184768	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10		114184768	135065853	1	16095											
FLG	2312	broad.mit.edu;hgsc.bcm.edu	37	1	152280282	152280282	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr1:152280282G>C	ENST00000368799.1	-	3	7115	c.7080C>G	c.(7078-7080)caC>caG	p.H2360Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2360	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGACCCTCGGTGTCCACTGT	0.587									Ichthyosis																																							0													60	77	71					1																	152280282		2171	4256	6427	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7080C>G	1.37:g.152280282G>C	ENSP00000357789:p.His2360Gln		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.514	1.106505	0.20632	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03860	3.78	3.71	-7.42	0.01388	.	.	.	.	.	T	0.01029	0.0034	L	0.46157	1.445	0.09310	N	1	B	0.34349	0.45	B	0.34138	0.176	T	0.41858	-0.9485	9	0.29301	T	0.29	.	1.0899	0.01661	0.3784:0.2725:0.2126:0.1365	.	2360	P20930	FILA_HUMAN	Q	2360;270	ENSP00000357789:H2360Q	ENSP00000271820:H270Q	H	-	3	2	FLG	150546906	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.888000	0.00173	-1.126000	0.02929	-0.690000	0.03725	CAC		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152280282	G	C	152280282	3	2	267	1	0	0	0	0	1	0	0	0	5924	1252	44	4	5109	4	FLG	1	152280282	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10	38095514	152280282	96970339	2	16096											
TP53BP2	7159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223994599	223994599	+	Silent	SNP	T	T	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr1:223994599T>C	ENST00000343537.7	-	5	714	c.423A>G	c.(421-423)gcA>gcG	p.A141A	TP53BP2_ENST00000391878.2_Silent_p.A12A	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	135	Gln-rich.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCTGGCGAGATGCCATTTCCT	0.418																																																0													159	152	154					1																	223994599		2203	4300	6503	SO:0001819	synonymous_variant	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.423A>G	1.37:g.223994599T>C			B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.952535	0.34471	.	.	ENSG00000143514	ENST00000494100	.	.	.	5.13	-5.62	0.02481	.	.	.	.	.	T	0.37544	0.1007	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36089	-0.9762	4	.	.	.	.	2.3145	0.04195	0.1093:0.3236:0.2256:0.3415	.	.	.	.	V	75	.	.	I	-	1	0	TP53BP2	222061222	0.000000	0.05858	0.871000	0.34182	0.998000	0.95712	-3.523000	0.00442	-1.341000	0.02225	0.460000	0.39030	ATC		0.418	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		C	223994599	T	C	223994599	2	2	267	1	0	0	0	0	0	0	0	1	16389	1451	51	3		3	TP53BP2	1	223994599	Silent	SNP	T	TCGA-B8-4148-01A-02D-1386-10	71714317	223994599	25256022	3	16097											
DDX1	1653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	15758358	15758358	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr2:15758358G>C	ENST00000381341.2	+	17	1559	c.1170G>C	c.(1168-1170)caG>caC	p.Q390H	DDX1_ENST00000233084.3_Missense_Mutation_p.Q390H			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	390	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TGCACAATCAGATTCCTCAGG	0.308																																																0													125	143	137					2																	15758358		2203	4299	6502	SO:0001583	missense	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1170G>C	2.37:g.15758358G>C	ENSP00000370745:p.Gln390His		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398233	0.42512	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.16897	2.31;2.31	6.17	4.4	0.53042	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	N	0.16166	0.38	0.80722	D	1	B	0.23990	0.095	B	0.28139	0.086	T	0.11155	-1.0599	10	0.44086	T	0.13	-16.4651	10.8871	0.46972	0.2136:0.0:0.7864:0.0	.	390	Q92499	DDX1_HUMAN	H	390;390;374	ENSP00000370745:Q390H;ENSP00000233084:Q390H	ENSP00000233084:Q390H	Q	+	3	2	DDX1	15675809	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	2.118000	0.41949	0.957000	0.37930	-0.136000	0.14681	CAG		0.308	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		C	15758358	G	C	15758358	3	2	267	1	0	0	0	0	1	0	0	0	4343	933	33	4	1232	4	DDX1	2	15758358	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10		15758358	227441015	4	16098											
ATP6V1B1	525	broad.mit.edu;ucsc.edu	37	2	71190307	71190307	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr2:71190307G>C	ENST00000234396.4	+	10	998	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	AC007040.11_ENST00000606025.1_Intron|RN7SL160P_ENST00000468558.2_RNA|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E309Q	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	309					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TGCTGCTAGAGAGGAGGTGCC	0.607																																																0													82	88	86					2																	71190307		2203	4300	6503	SO:0001583	missense	525			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"ATPases / V-type"	853	protein-coding gene	gene with protein product	"Renal tubular acidosis with deafness"	192132	"vacuolar proton pump 3"	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.925G>C	2.37:g.71190307G>C	ENSP00000234396:p.Glu309Gln		Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943945	0.92593	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	D;D	0.82255	-1.59;-1.59	4.99	4.99	0.66335	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.92309	0.7560	M	0.92833	3.35	0.80722	D	1	P;D;D	0.64830	0.938;0.989;0.994	P;D;D	0.63381	0.813;0.914;0.914	D	0.93939	0.7221	10	0.87932	D	0	-1.2484	15.8116	0.78568	0.0:0.0:1.0:0.0	.	284;309;309	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	Q	309;284;309	ENSP00000234396:E309Q;ENSP00000388353:E309Q	ENSP00000234396:E309Q	E	+	1	0	ATP6V1B1	71043815	1.000000	0.71417	0.983000	0.44433	0.968000	0.65278	9.648000	0.98483	2.612000	0.88384	0.650000	0.86243	GAG		0.607	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		C	71190307	G	C	71190307	3	2	267	1	0	0	0	0	1	0	0	0	1178	943	33	4	963	4	ATP6V1B1	2	71190307	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10	55431949	71190307	172009066	5	16099											
HSPD1	3329	broad.mit.edu;hgsc.bcm.edu	37	2	198362076	198362076	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr2:198362076T>G	ENST00000388968.3	-	3	482	c.215A>C	c.(214-216)aAa>aCa	p.K72T	HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000345042.2_Missense_Mutation_p.K72T|HSPD1_ENST00000544407.1_Missense_Mutation_p.K72T|HSPE1_ENST00000233893.5_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	72					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TTTTGTTACTTTGGGACTTCC	0.338																																																0													71	70	70					2																	198362076		2203	4300	6503	SO:0001583	missense	3329			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.215A>C	2.37:g.198362076T>G	ENSP00000373620:p.Lys72Thr		B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472900	0.84640	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480;ENST00000428204;ENST00000439605	T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	4.24	4.24	0.50183	.	0.091610	0.85682	D	0.000000	D	0.83908	0.5356	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.67145	0.993;0.996;0.996;0.982	D;D;D;P	0.74674	0.911;0.984;0.984;0.864	D	0.85850	0.1403	10	0.87932	D	0	-25.0224	13.8498	0.63489	0.0:0.0:0.0:1.0	.	72;72;72;72	B7Z712;B7Z597;B3GQS7;P10809	.;.;.;CH60_HUMAN	T	72;72;72;72;72;114;72;72	ENSP00000373620:K72T;ENSP00000340019:K72T;ENSP00000393670:K72T;ENSP00000412717:K72T;ENSP00000441296:K72T;ENSP00000414446:K114T;ENSP00000396460:K72T;ENSP00000402478:K72T	ENSP00000340019:K72T	K	-	2	0	HSPD1	198070321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.822000	0.86651	1.912000	0.55364	0.524000	0.50904	AAA		0.338	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		G	198362076	T	G	198362076	3	3	267	1	0	0	0	0	1	0	0	0	7430	1841	64	5	1546	5	HSPD1	2	198362076	Missense_Mutation	SNP	T	TCGA-B8-4148-01A-02D-1386-10	127171769	198362076	44837297	6	16100											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191557	10191558	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr3:10191557_10191558insT	ENST00000256474.2	+	3	1390_1391	c.550_551insT	c.(550-552)ctcfs	p.L184fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Ins_p.L143fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	184			L -> P (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|L -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L184P(6)|p.L184R(1)|p.Y185fs*14(1)|p.S183*(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGTCAGGTCGCTCTACGAAGAT	0.515		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Substitution - Missense(7)|Deletion - Frameshift(2)	kidney(9)	GRCh37	CM042503|CM941389|CM961440	VHL	M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.551dupT	3.37:g.10191558_10191558dupT	ENSP00000256474:p.Leu184fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.515	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191558	-	T	10191557	7	5	267	1	0	1	1	0	0	0	0	0	17167	797	28	0	560	0	VHL	3	10191557	Frame_Shift_Ins	INS	-	TCGA-B8-4148-01A-02D-1386-10		10191557	187830873	7	16101											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52651357	52651357	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr3:52651357T>C	ENST00000296302.7	-	14	1740	c.1739A>G	c.(1738-1740)tAt>tGt	p.Y580C	PBRM1_ENST00000337303.4_Missense_Mutation_p.Y580C|PBRM1_ENST00000409767.1_Missense_Mutation_p.Y595C|PBRM1_ENST00000409057.1_Missense_Mutation_p.Y580C|PBRM1_ENST00000409114.3_Missense_Mutation_p.Y595C|PBRM1_ENST00000394830.3_Missense_Mutation_p.Y580C|PBRM1_ENST00000410007.1_Missense_Mutation_p.Y580C|PBRM1_ENST00000356770.4_Missense_Mutation_p.Y548C			Q86U86	PB1_HUMAN	polybromo 1	580	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCACCAGCATATTTGTCATT	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													121	112	115					3																	52651357		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1739A>G	3.37:g.52651357T>C	ENSP00000296302:p.Tyr580Cys		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	22.8	4.339655	0.81911	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.84	5.84	0.93424	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87958	0.6309	H	0.98833	4.345	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999;1.0;1.0;0.999;0.999	D	0.92807	0.6261	10	0.87932	D	0	-16.5987	16.2167	0.82231	0.0:0.0:0.0:1.0	.	580;580;580;580;595;595;580;548;580	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	C	548;580;580;580;580;580;595;595;580;539	ENSP00000349213:Y548C;ENSP00000378307:Y580C;ENSP00000296302:Y580C;ENSP00000338302:Y580C;ENSP00000386593:Y580C;ENSP00000386529:Y580C;ENSP00000386643:Y595C;ENSP00000386601:Y595C;ENSP00000387775:Y580C;ENSP00000397662:Y539C	ENSP00000296302:Y580C	Y	-	2	0	PBRM1	52626397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.231000	0.72958	0.533000	0.62120	TAT		0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52651357	T	C	52651357	3	2	267	1	0	0	0	0	1	0	0	0	11493	1406	49	3	3229	3	PBRM1	3	52651357	Missense_Mutation	SNP	T	TCGA-B8-4148-01A-02D-1386-10	42459800	52651357	145371073	8	16102											
CENPE	1062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	104080236	104080236	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr4:104080236A>C	ENST00000265148.3	-	22	2621	c.2532T>G	c.(2530-2532)aaT>aaG	p.N844K	CENPE_ENST00000380026.3_Missense_Mutation_p.N819K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	844					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTATTTCCTGATTCATTCTCT	0.353																																																0													94	91	92					4																	104080236		2203	4300	6503	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2532T>G	4.37:g.104080236A>C	ENSP00000265148:p.Asn844Lys		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	0.691	-0.794488	0.02862	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.75821	-0.97;-0.97;-0.97	5.03	-7.9	0.01169	.	.	.	.	.	T	0.34106	0.0886	N	0.02802	-0.49	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.43376	-0.9395	9	0.02654	T	1	.	1.7353	0.02941	0.1513:0.3857:0.2155:0.2474	.	819;844	Q02224-3;Q02224	.;CENPE_HUMAN	K	844;844;819;844	ENSP00000265148:N844K;ENSP00000369365:N819K;ENSP00000423981:N844K	ENSP00000265148:N844K	N	-	3	2	CENPE	104299685	0.004000	0.15560	0.000000	0.03702	0.876000	0.50452	-0.895000	0.04118	-0.912000	0.03837	-1.009000	0.02473	AAT		0.353	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	104080236	A	C	104080236	3	2	267	1	0	0	0	0	1	0	0	0	3232	330	12	5	5685	5	CENPE	4	104080236	Missense_Mutation	SNP	A	TCGA-B8-4148-01A-02D-1386-10		104080236	87074040	9	16103											
ADAM29	11086	hgsc.bcm.edu	37	4	175899075	175899076	+	Missense_Mutation	DNP	CA	CA	TG	rs140568401|rs61744599	byFrequency	TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr4:175899075_175899076CA>TG	ENST00000359240.3	+	5	3069_3070	c.2399_2400CA>TG	c.(2398-2400)aCA>aTG	p.T800M	ADAM29_ENST00000445694.1_Missense_Mutation_p.T800M|ADAM29_ENST00000404450.4_Missense_Mutation_p.T800M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T800M|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	800	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCCTGTGACACCCTCCCAGA	0.564																																					Ovarian(140;1727 1835 21805 25838 41440)											0																																										SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	Exception_encountered	4.37:g.175899075_175899076delinsTG	ENSP00000352177:p.Thr800Met		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation|Silent	SNP	ENST00000359240.3	37	CCDS3823.1																																																																																				0.564	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				TG	175899076	CA	TG	175899075	3	4	267	1	0	0	0	0	1	0	0	0	247	478	17	2	2401	2	ADAM29	4	175899075	Missense_Mutation	DNP	CA	TCGA-B8-4148-01A-02D-1386-10	71818839	175899075	15255201	10	16104	126	2									
ADAM29	11086	hgsc.bcm.edu	37	4	175899079	175899079	+	Silent	SNP	C	C	T	rs151310201	byFrequency	TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr4:175899079C>T	ENST00000359240.3	+	5	3073	c.2403C>T	c.(2401-2403)ccC>ccT	p.P801P	ADAM29_ENST00000445694.1_Silent_p.P801P|ADAM29_ENST00000404450.4_Silent_p.P801P|ADAM29_ENST00000514159.1_Silent_p.P801P|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	801	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTGTGACACCCTCCCAGAGGC	0.567																																					Ovarian(140;1727 1835 21805 25838 41440)											0													138	128	131					4																	175899079		2203	4300	6503	SO:0001819	synonymous_variant	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2403C>T	4.37:g.175899079C>T			Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	CCDS3823.1																																																																																				0.567	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				T	175899079	C	T	175899079	2	4	267	1	0	0	0	0	0	0	0	1	247	668	24	2		2	ADAM29	4	175899079	Silent	SNP	C	TCGA-B8-4148-01A-02D-1386-10	4	175899079	15255197	11	16105	126	2									
VCAN	1462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	82815685	82815685	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr5:82815685G>T	ENST00000265077.3	+	7	2125	c.1560G>T	c.(1558-1560)ttG>ttT	p.L520F	VCAN_ENST00000342785.4_Missense_Mutation_p.L520F|VCAN_ENST00000512590.2_Missense_Mutation_p.L472F|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	520	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAACACCATTGGTAACTGCAA	0.393																																																0													127	127	127					5																	82815685		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1560G>T	5.37:g.82815685G>T	ENSP00000265077:p.Leu520Phe		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	1.743	-0.491296	0.04322	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86097	-1.96;-2.05;-2.07	5.77	-5.1	0.02911	.	1.309370	0.04890	N	0.449399	T	0.53786	0.1818	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.55088	-0.8195	10	0.07813	T	0.8	.	0.9228	0.01318	0.1928:0.1859:0.313:0.3082	.	520;520	P13611-3;P13611	.;CSPG2_HUMAN	F	520;520;472	ENSP00000265077:L520F;ENSP00000342768:L520F;ENSP00000425959:L472F	ENSP00000265077:L520F	L	+	3	2	VCAN	82851441	0.000000	0.05858	0.000000	0.03702	0.534000	0.34807	-0.559000	0.05971	-0.427000	0.07350	-1.112000	0.02068	TTG		0.393	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82815685	G	T	82815685	3	4	267	1	0	0	0	0	1	0	0	0	17143	1339	47	4	1582	4	VCAN	5	82815685	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10		82815685	98099575	12	16106											
PCDHB3	56132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140480794	140480794	+	Silent	SNP	C	C	T	rs374383309		TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr5:140480794C>T	ENST00000231130.2	+	1	561	c.561C>T	c.(559-561)gaC>gaT	p.D187D	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGTAGGGACGGAAGGAAGT	0.562																																																0								C		0,4406		0,0,2203	82	80	81		561	-2.8	0.3	5		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCDHB3	NM_018937.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		187/797	140480794	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.561C>T	5.37:g.140480794C>T			B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																				0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		T	140480794	C	T	140480794	2	4	267	1	0	0	0	0	0	0	0	1	11545	535	19	1		1	PCDHB3	5	140480794	Silent	SNP	C	TCGA-B8-4148-01A-02D-1386-10	57665109	140480794	40434466	13	16107											
EDN1	1906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	12292680	12292680	+	Silent	SNP	C	C	T			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr6:12292680C>T	ENST00000379375.5	+	2	438	c.171C>T	c.(169-171)tcC>tcT	p.S57S		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	57					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				CCTGCTCGTCCCTGATGGATA	0.582																																																0													82	79	80					6																	12292680		2203	4300	6503	SO:0001819	synonymous_variant	1906			S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"Endogenous ligands"	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.171C>T	6.37:g.12292680C>T			Q96DA1	Silent	SNP	ENST00000379375.5	37	CCDS4522.1																																																																																				0.582	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955		T	12292680	C	T	12292680	2	4	267	1	0	0	0	0	0	0	0	1	4918	610	22	2		2	EDN1	6	12292680	Silent	SNP	C	TCGA-B8-4148-01A-02D-1386-10		12292680	158822387	14	16108											
COX19	90639	broad.mit.edu;ucsc.edu	37	7	1012903	1012903	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr7:1012903T>A	ENST00000344111.3	-	2	197	c.108A>T	c.(106-108)aaA>aaT	p.K36N		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	36	CHCH.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		ACTTCATGAATTTCTCTTTAA	0.353																																																0													88	85	86					7																	1012903		2202	4299	6501	SO:0001583	missense	90639			AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"Mitochondrial respiratory chain complex assembly factors"	28074	protein-coding gene	gene with protein product		610429	"COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.108A>T	7.37:g.1012903T>A	ENSP00000342015:p.Lys36Asn		A4FTX0	Missense_Mutation	SNP	ENST00000344111.3	37	CCDS34582.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090094	0.36855	.	.	ENSG00000240230	ENST00000344111	T	0.77098	-1.07	4.77	-3.75	0.04372	CHCH (1);	0.176921	0.31834	N	0.006993	T	0.65668	0.2713	.	.	.	0.33063	D	0.534301	P	0.38677	0.642	B	0.43225	0.412	T	0.66143	-0.5997	9	0.17832	T	0.49	-2.0081	11.4701	0.50264	0.0:0.4806:0.0:0.5194	.	36	Q49B96	COX19_HUMAN	N	36	ENSP00000342015:K36N	ENSP00000342015:K36N	K	-	3	2	COX19	979429	0.493000	0.26035	0.970000	0.41538	0.603000	0.37013	-0.488000	0.06497	-0.616000	0.05671	0.383000	0.25322	AAA		0.353	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322812.1	NM_001031617		A	1012903	T	A	1012903	3	1	267	1	0	0	0	0	1	0	0	0	3770	1490	52	5	172	5	COX19	7	1012903	Missense_Mutation	SNP	T	TCGA-B8-4148-01A-02D-1386-10		1012903	158125760	15	16109											
POTEA	340441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	43147724	43147724	+	RNA	SNP	C	C	T			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr8:43147724C>T	ENST00000522175.2	+	0	99							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGCTGCTTCCCCTGCTGCAG	0.587																																																0													51	55	53					8																	43147724		2202	4300	6502			340441			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147724C>T			A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37																																																																																					0.587	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		T	43147724	C	T	43147724	1	4	267	0	1	0	0	0	0	0	0	0	12263	623	22	2		2	POTEA	8	43147724	RNA	SNP	C	TCGA-B8-4148-01A-02D-1386-10		43147724	103216298	16	16110											
SURF4	6836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136234216	136234216	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr9:136234216G>A	ENST00000371989.3	-	2	283	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	SURF4_ENST00000485435.2_Missense_Mutation_p.R52C|SURF4_ENST00000545297.1_Missense_Mutation_p.R52C|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Missense_Mutation_p.R52C	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	52					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		ATGTAGTCGCGCTGCTCGCTC	0.612																																																0													122	97	105					9																	136234216		2203	4300	6503	SO:0001583	missense	6836				CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.154C>T	9.37:g.136234216G>A	ENSP00000361057:p.Arg52Cys		B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	ENST00000371989.3	37	CCDS6968.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882755	0.51908	.	.	ENSG00000148248	ENST00000371989;ENST00000485435;ENST00000545297;ENST00000541390;ENST00000371991	.	.	.	4.97	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.64997	1.995	0.80722	D	1	P;B;B;B	0.35507	0.506;0.075;0.198;0.075	B;B;B;B	0.31495	0.131;0.035;0.056;0.035	T	0.56517	-0.7966	9	0.52906	T	0.07	-15.6935	9.8925	0.41298	0.0:0.0:0.5842:0.4158	.	52;43;52;52	B7Z6A4;B7Z7A8;O15260-2;O15260	.;.;.;SURF4_HUMAN	C	52;52;52;43;52	.	ENSP00000361057:R52C	R	-	1	0	SURF4	135224037	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	2.538000	0.45710	2.290000	0.77057	0.655000	0.94253	CGC		0.612	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		A	136234216	G	A	136234216	3	1	267	1	0	0	0	0	1	0	0	0	15410	1087	38	1	675	1	SURF4	9	136234216	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10		136234216	4979215	17	16111											
FBXO18	84893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5951142	5951142	+	Missense_Mutation	SNP	G	G	A	rs201500988		TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr10:5951142G>A	ENST00000362091.4	+	5	1020	c.905G>A	c.(904-906)tGc>tAc	p.C302Y	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.C353Y	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	302					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACCACTAAGTGCTCTCCGAGT	0.577																																																0													94	86	89					10																	5951142		2203	4300	6503	SO:0001583	missense	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.905G>A	10.37:g.5951142G>A	ENSP00000355415:p.Cys302Tyr		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.928995	0.00493	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	4.99	4.07	0.47477	.	0.613882	0.17575	N	0.169332	T	0.18341	0.0440	N	0.08118	0	0.29325	N	0.867086	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.16394	-1.0404	9	0.02654	T	1	-15.24	9.5415	0.39255	0.0848:0.1478:0.7674:0.0	.	353;302;228	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	Y	302;39;353;39	.	ENSP00000355415:C302Y	C	+	2	0	FBXO18	5991148	0.754000	0.28360	0.996000	0.52242	0.073000	0.16967	1.563000	0.36364	2.478000	0.83669	0.561000	0.74099	TGC		0.577	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		A	5951142	G	A	5951142	3	1	267	1	0	0	0	0	1	0	0	0	5733	1319	46	2	1085	2	FBXO18	10	5951142	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10		5951142	129583605	18	16112											
ZEB1	6935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	31799802	31799805	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	AAGT	AAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr10:31799802_31799805delAAGT	ENST00000320985.10	+	5	793_794	c.683_684delAAGT	c.(682-684)caa>c	p.Q228fs	ZEB1_ENST00000446923.2_Splice_Site_p.Q212fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Splice_Site_p.Q161fs|ZEB1_ENST00000361642.5_Splice_Site_p.Q229fs|ZEB1_ENST00000560721.2_Splice_Site_p.Q208fs			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	228					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GGAAGAGATCAAGTAAGTGCAATG	0.368																																					Ovarian(40;423 959 14296 36701 49589)											0																																										SO:0001630	splice_region_variant	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.684+1AAGT>-	10.37:g.31799806_31799809delAAGT			B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	In_Frame_Del	DEL	ENST00000320985.10	37	CCDS7169.1																																																																																				0.368	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	Frame_Shift_Del	-	31799805	AAGT	-	31799802	8	5	267	1	0	1	0	1	0	0	1	0	17628	144	5	0	715	0	ZEB1	10	31799802	Splice_Site	DEL	AAGT	TCGA-B8-4148-01A-02D-1386-10	25848660	31799802	103734945	19	16113											
C10orf57	80195	broad.mit.edu;ucsc.edu	37	10	81838462	81838462	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr10:81838462A>C	ENST00000372281.3	+	1	37	c.7A>C	c.(7-9)Acg>Ccg	p.T3P	TMEM254-AS1_ENST00000412298.1_RNA|TMEM254-AS1_ENST00000432070.2_RNA|TMEM254_ENST00000372277.3_Missense_Mutation_p.T3P|TMEM254-AS1_ENST00000448729.2_RNA|TMEM254_ENST00000372275.1_Missense_Mutation_p.T3P|TMEM254_ENST00000372274.1_Missense_Mutation_p.T3P	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	3						integral component of membrane (GO:0016021)											AGCCATGGCTACGGCAGCCGG	0.677																																																0													47	41	43					10																	81838462		2203	4298	6501	SO:0001583	missense	0			BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 57"	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.7A>C	10.37:g.81838462A>C	ENSP00000361355:p.Thr3Pro		D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Missense_Mutation	SNP	ENST00000372281.3	37	CCDS7363.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851119	0.32699	.	.	ENSG00000133678	ENST00000372281;ENST00000372277;ENST00000372275;ENST00000372274	.	.	.	4.89	-8.2	0.01045	.	.	.	.	.	T	0.14141	0.0342	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.20009	-1.0288	8	0.46703	T	0.11	.	2.1672	0.03840	0.2749:0.3951:0.138:0.192	.	3;3	Q5JTC0;Q8TBM7	.;CJ057_HUMAN	P	3	.	ENSP00000361348:T3P	T	+	1	0	C10orf57	81828442	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.076000	0.11412	-1.942000	0.01040	-3.448000	0.00036	ACG		0.677	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049030.1	NM_025125		C	81838462	A	C	81838462	3	2	267	1	0	0	0	0	1	0	0	0	1611	391	14	5	9	5	C10orf57	10	81838462	Missense_Mutation	SNP	A	TCGA-B8-4148-01A-02D-1386-10	50038660	81838462	53696285	20	16114											
STAMBPL1	57559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	90682964	90682964	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr10:90682964G>T	ENST00000371926.3	+	11	2252	c.1294G>T	c.(1294-1296)Gtg>Ttg	p.V432L	STAMBPL1_ENST00000371922.1_Missense_Mutation_p.V266L|STAMBPL1_ENST00000371927.3_Intron|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.V432L	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	432						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AAAAATAATTGTGTTGGATCT	0.348																																																0													107	102	104					10																	90682964		2203	4300	6503	SO:0001583	missense	57559			AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.1294G>T	10.37:g.90682964G>T	ENSP00000360994:p.Val432Leu		B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383736	0.42308	.	.	ENSG00000138134	ENST00000371926;ENST00000371924;ENST00000371922	T;T;T	0.26660	1.72;1.72;1.79	5.54	1.24	0.21308	.	.	.	.	.	T	0.17619	0.0423	L	0.35793	1.09	0.46416	D	0.999038	B	0.02656	0.0	B	0.01281	0.0	T	0.05435	-1.0885	9	0.42905	T	0.14	.	6.8567	0.24044	0.2352:0.1258:0.6389:0.0	.	432	Q96FJ0	STALP_HUMAN	L	432;432;266	ENSP00000360994:V432L;ENSP00000360992:V432L;ENSP00000360990:V266L	ENSP00000360990:V266L	V	+	1	0	STAMBPL1	90672944	0.934000	0.31675	0.728000	0.30774	0.988000	0.76386	1.356000	0.34079	0.344000	0.23847	0.591000	0.81541	GTG		0.348	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		T	90682964	G	T	90682964	3	4	267	1	0	0	0	0	1	0	0	0	15256	1377	48	4	1332	4	STAMBPL1	10	90682964	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10	8844502	90682964	44851783	21	16115											
RELA	5970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65426222	65426222	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr11:65426222C>T	ENST00000406246.3	-	7	892	c.631G>A	c.(631-633)Gag>Aag	p.E211K	RELA_ENST00000308639.9_Missense_Mutation_p.E208K|RELA_ENST00000525693.1_Missense_Mutation_p.E211K	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	211	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						AGGAAGATCTCATCCCCACCG	0.567																																																0													140	120	127					11																	65426222		2201	4297	6498	SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.631G>A	11.37:g.65426222C>T	ENSP00000384273:p.Glu211Lys		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370256	0.95900	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	5.13	5.13	0.70059	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70692	0.3253	H	0.94886	3.595	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.982;0.999;0.999;0.999;1.0;0.989	P;D;D;D;D;P	0.91635	0.822;0.989;0.989;0.975;0.999;0.798	T	0.80200	-0.1481	10	0.87932	D	0	-21.9559	16.0771	0.80976	0.0:1.0:0.0:0.0	.	211;198;208;211;222;211	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	K	211;211;208;211;222;222;202;180	ENSP00000384273:E211K;ENSP00000432537:E211K;ENSP00000311508:E208K;ENSP00000433526:E222K;ENSP00000434372:E202K;ENSP00000436545:E180K	ENSP00000311508:E208K	E	-	1	0	RELA	65182798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.634000	0.83273	2.387000	0.81309	0.655000	0.94253	GAG		0.567	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		T	65426222	C	T	65426222	3	4	267	1	0	0	0	0	1	0	0	0	13222	835	29	2	1044	2	RELA	11	65426222	Missense_Mutation	SNP	C	TCGA-B8-4148-01A-02D-1386-10		65426222	69580294	22	16116											
BCL9L	283149	broad.mit.edu;ucsc.edu	37	11	118779364	118779364	+	Splice_Site	SNP	C	C	T			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr11:118779364C>T	ENST00000334801.3	-	2	991	c.27G>A	c.(25-27)agG>agA	p.R9R	BCL9L_ENST00000526143.1_5'UTR|MIR4492_ENST00000581627.1_RNA	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	9					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGTGGGGTAACCTGGGAGGAG	0.597																																																0													19	25	23					11																	118779364		1968	4121	6089	SO:0001630	splice_region_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.27-1G>A	11.37:g.118779364C>T			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	CCDS8403.1																																																																																				0.597	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	Silent	T	118779364	C	T	118779364	5	4	267	1	0	0	0	0	0	0	1	0	1382	521	18	2	4500	2	BCL9L	11	118779364	Splice_Site	SNP	C	TCGA-B8-4148-01A-02D-1386-10	53353142	118779364	16227152	23	16117											
TMEM225	338661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123753906	123753906	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr11:123753906G>A	ENST00000375026.2	-	4	833	c.617C>T	c.(616-618)gCa>gTa	p.A206V		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	206					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						CACAGTGTGTGCACGGACAAT	0.393																																																0													182	166	172					11																	123753906		2202	4299	6501	SO:0001583	missense	338661			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.617C>T	11.37:g.123753906G>A	ENSP00000364166:p.Ala206Val			Missense_Mutation	SNP	ENST00000375026.2	37	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.252446	0.01469	.	.	ENSG00000204300	ENST00000375026	T	0.27720	1.65	3.64	-7.29	0.01451	.	6.550700	0.00166	N	0.000000	T	0.08626	0.0214	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26744	-1.0094	10	0.02654	T	1	1.9283	1.9353	0.03335	0.1819:0.1301:0.4305:0.2575	.	206	Q6GV28	TM225_HUMAN	V	206	ENSP00000364166:A206V	ENSP00000364166:A206V	A	-	2	0	TMEM225	123259116	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.150000	0.01290	-2.112000	0.00835	-0.794000	0.03295	GCA		0.393	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		A	123753906	G	A	123753906	3	1	267	1	0	0	0	0	1	0	0	0	16152	1319	46	2	64	2	TMEM225	11	123753906	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10	4974542	123753906	11252610	24	16118											
CTDSP2	10106	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58220853	58220853	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr12:58220853C>T	ENST00000398073.2	-	4	583	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	CTDSP2_ENST00000548823.1_Intron|MIR26A2_ENST00000385054.1_RNA|CTDSP2_ENST00000547701.1_De_novo_Start_InFrame	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	94					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TCCTCTGTCACCTCTGGGAGC	0.493																																																0													92	90	90					12																	58220853		1959	4143	6102	SO:0001583	missense	10106			AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	17077	protein-coding gene	gene with protein product	"conserved gene amplified in osteosarcoma", "nuclear LIM interactor-interacting factor 2", "NLI-interacting factor 2", "small CTD phosphatase 2"	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.280G>A	12.37:g.58220853C>T	ENSP00000381148:p.Val94Met		A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	CCDS41801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.25|16.25	3.070018|3.070018	0.55539|0.55539	.|.	.|.	ENSG00000175215|ENSG00000175215	ENST00000550144|ENST00000398073	.|T	.|0.18016	.|2.24	4.92|4.92	4.92|4.92	0.64577|0.64577	.|HAD-like domain (2);	.|0.061993	.|0.64402	.|D	.|0.000006	T|T	0.15998|0.15998	0.0385|0.0385	L|L	0.35288|0.35288	1.05|1.05	0.80722|0.80722	D|D	1|1	.|B	.|0.20368	.|0.044	.|B	.|0.15870	.|0.014	T|T	0.03000|0.03000	-1.1084|-1.1084	5|10	.|0.45353	.|T	.|0.12	-18.7958|-18.7958	17.3988|17.3988	0.87453|0.87453	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|94	.|O14595	.|CTDS2_HUMAN	D|M	63|94	.|ENSP00000381148:V94M	.|ENSP00000381148:V94M	G|V	-|-	2|1	0|0	CTDSP2|CTDSP2	56507120|56507120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.816000|1.816000	0.38992|0.38992	2.717000|2.717000	0.92951|0.92951	0.563000|0.563000	0.77884|0.77884	GGT|GTG		0.493	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		T	58220853	C	T	58220853	3	4	267	1	0	0	0	0	1	0	0	0	4006	507	18	2	555	2	CTDSP2	12	58220853	Missense_Mutation	SNP	C	TCGA-B8-4148-01A-02D-1386-10		58220853	75631042	25	16119											
SBNO1	55206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123800154	123800154	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr12:123800154A>G	ENST00000602398.1	-	22	3116	c.2989T>C	c.(2989-2991)Tct>Cct	p.S997P	SBNO1_ENST00000267176.4_Missense_Mutation_p.S996P|SBNO1_ENST00000602750.1_Missense_Mutation_p.S996P|SBNO1_ENST00000420886.2_Missense_Mutation_p.S997P			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	997			S -> C (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)		GCCAGTTCAGATATCAGAAAG	0.388																																																0													156	145	149					12																	123800154		2203	4300	6503	SO:0001583	missense	55206			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.2989T>C	12.37:g.123800154A>G	ENSP00000473665:p.Ser997Pro		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.798499	0.90538	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.76448	-1.02;-1.02	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.88459	0.6442	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	D	0.89268	0.3602	10	0.54805	T	0.06	-20.63	16.0789	0.80985	1.0:0.0:0.0:0.0	.	997;996	A3KN83;A3KN83-2	SBNO1_HUMAN;.	P	997;996	ENSP00000387361:S997P;ENSP00000267176:S996P	ENSP00000267176:S996P	S	-	1	0	SBNO1	122366107	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	9.339000	0.96797	2.192000	0.70111	0.460000	0.39030	TCT		0.388	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		G	123800154	A	G	123800154	3	3	267	1	0	0	0	0	1	0	0	0	13868	333	12	3	1236	3	SBNO1	12	123800154	Missense_Mutation	SNP	A	TCGA-B8-4148-01A-02D-1386-10	65579301	123800154	10051741	26	16120											
FITM1	161247	broad.mit.edu	37	14	24600851	24600851	+	Missense_Mutation	SNP	G	G	A	rs139596139	byFrequency	TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr14:24600851G>A	ENST00000267426.5	+	1	368	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.G214D|FITM1_ENST00000559294.1_5'Flank	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	27					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CCTGCTCAAGGTGCTGCTCTG	0.687																																																0								G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	27	31	30		79	4.6	1	14	dbSNP_134	30	0,8600		0,0,4300	no	missense	FITM1	NM_203402.2	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	27/293	24600851	1,13005	2203	4300	6503	SO:0001583	missense	161247				CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"fat-inducing transcript 1"	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.79G>A	14.37:g.24600851G>A	ENSP00000267426:p.Val27Met		Q8IUQ7	Missense_Mutation	SNP	ENST00000267426.5	37	CCDS9611.1	.	.	.	.	.	.	.	.	.	.	g	16.13	3.036399	0.54896	2.27E-4	0.0	ENSG00000139914	ENST00000267426	.	.	.	4.6	4.6	0.57074	.	0.539313	0.16094	N	0.229922	T	0.44685	0.1305	N	0.14661	0.345	0.80722	D	1	P	0.51240	0.943	P	0.49361	0.608	T	0.46162	-0.9211	9	0.54805	T	0.06	-1.6306	12.8056	0.57612	0.0:0.0:1.0:0.0	.	27	A5D6W6	FITM1_HUMAN	M	27	.	ENSP00000267426:V27M	V	+	1	0	FITM1	23670691	1.000000	0.71417	0.997000	0.53966	0.760000	0.43138	3.152000	0.50677	2.369000	0.80426	0.462000	0.41574	GTG		0.687	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402		A	24600851	G	A	24600851	3	1	267	1	0	0	0	0	1	0	0	0	5900	1261	44	2	81	2	FITM1	14	24600851	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10		24600851	82748689	27	16121											
NTRK3	4916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	88476307	88476307	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr15:88476307C>T	ENST00000360948.2	-	15	1986	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	NTRK3_ENST00000558676.1_Missense_Mutation_p.D601N|NTRK3_ENST00000557856.1_Missense_Mutation_p.D601N|NTRK3_ENST00000542733.2_Missense_Mutation_p.D511N|NTRK3_ENST00000355254.2_Missense_Mutation_p.D609N|NTRK3_ENST00000394480.2_Missense_Mutation_p.D609N|NTRK3_ENST00000357724.2_Missense_Mutation_p.D601N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	609	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGTCCCCATCGCCGCACACT	0.552			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													80	70	74					15																	88476307		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1825G>A	15.37:g.88476307C>T	ENSP00000354207:p.Asp609Asn		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470816	0.84533	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	N	0.16656	0.425	0.80722	D	1	D;D;D;D;P	0.89917	0.999;1.0;0.999;0.999;0.954	D;D;D;D;P	0.76575	0.965;0.988;0.983;0.94;0.59	D	0.84294	0.0501	10	0.33940	T	0.23	.	18.3583	0.90365	0.0:1.0:0.0:0.0	.	511;601;601;609;609	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	N	609;609;601;609;511;105	ENSP00000377990:D609N;ENSP00000354207:D609N;ENSP00000350356:D601N;ENSP00000347397:D609N;ENSP00000437773:D511N	ENSP00000342792:D105N	D	-	1	0	NTRK3	86277311	1.000000	0.71417	0.524000	0.27887	0.539000	0.34962	7.636000	0.83301	2.574000	0.86865	0.650000	0.86243	GAT		0.552	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				T	88476307	C	T	88476307	3	4	267	1	0	0	0	0	1	0	0	0	10710	884	31	1	714	1	NTRK3	15	88476307	Missense_Mutation	SNP	C	TCGA-B8-4148-01A-02D-1386-10		88476307	14055085	28	16122											
RHBDL1	9028	hgsc.bcm.edu;ucsc.edu	37	16	726989	726990	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr16:726989_726990insAA	ENST00000219551.2	+	3	667_668	c.640_641insAA	c.(640-642)tacfs	p.Y214fs	LA16c-313D11.9_ENST00000571933.1_RNA|RHBDL1_ENST00000352681.3_Frame_Shift_Ins_p.Y149fs|LA16c-313D11.9_ENST00000567091.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	214					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GTTCCTGTGTTACGGGGCCCGC	0.688																																																0																																										SO:0001589	frameshift_variant	9028			Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"rhomboid (veinlet, Drosophila)-like"	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	Exception_encountered	16.37:g.726989_726990insAA	ENSP00000219551:p.Tyr214fs		A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Frame_Shift_Del	INS	ENST00000219551.2	37	CCDS10418.1																																																																																				0.688	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		AA	726990	-	AA	726989	7	5	267	1	0	1	1	0	0	0	0	0	13327	1754	61	0	650	0	RHBDL1	16	726989	Frame_Shift_Ins	INS	-	TCGA-B8-4148-01A-02D-1386-10		726989	89627764	29	16123											
ZNF785	146540	hgsc.bcm.edu	37	16	30594709	30594718	+	Frame_Shift_Del	DEL	TTTTTGTTTT	TTTTTGTTTT	-	rs535168451		TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	TTTTTGTTTT	TTTTTGTTTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr16:30594709_30594718delTTTTTGTTTT	ENST00000395216.2	-	3	540_549	c.381_390delAAAACAAAAA	c.(379-390)ccaaaacaaaaafs	p.PKQK127fs	RP11-146F11.5_ENST00000563540.1_RNA|ZNF785_ENST00000470110.1_Frame_Shift_Del_p.PKQK112fs|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						GCGCCACCTCTTTTTGTTTTGGACACTTCT	0.533																																																0										1,0,4263		0,0,1,0,0,2131						2.4	0			94	0,5,8249		0,0,0,0,5,4122	no	codingComplex	ZNF785	NM_152458.6		0,0,1,0,5,6253	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.0235,0.0479				1,5,12512				SO:0001589	frameshift_variant	146540			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.381_390delAAAACAAAAA	16.37:g.30594709_30594718delTTTTTGTTTT	ENSP00000378642:p.Pro127fs		O75701|Q8IW91|Q8WV14|Q96MN0	Frame_Shift_Del	DEL	ENST00000395216.2	37	CCDS10685.1																																																																																				0.533	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		-	30594718	TTTTTGTTTT	-	30594709	7	5	267	1	0	1	0	1	0	0	0	0	18162	1606	56	0	831	0	ZNF785	16	30594709	Frame_Shift_Del	DEL	TTTTTGTTTT	TCGA-B8-4148-01A-02D-1386-10	29867720	30594709	59760044	30	16124											
S1PR2	9294	broad.mit.edu;hgsc.bcm.edu	37	19	10334693	10334693	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr19:10334693G>A	ENST00000590320.1	-	2	999	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	297					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGCACCTCCCGCCGCAGGTCC	0.692																																					Pancreas(194;229 3020 15179 45747)											0													27	30	29					19																	10334693		2200	4297	6497	SO:0001583	missense	9294			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.889C>T	19.37:g.10334693G>A	ENSP00000466933:p.Arg297Trp		Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863378	0.51482	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.49	-1.58	0.08479	.	0.306404	0.29466	N	0.012065	T	0.30198	0.0757	N	0.24115	0.695	0.37685	D	0.923613	D	0.61697	0.99	B	0.43623	0.425	T	0.35301	-0.9794	9	0.87932	D	0	.	9.3075	0.37885	0.0:0.2083:0.2543:0.5374	.	297	O95136	S1PR2_HUMAN	W	297	.	ENSP00000322049:R297W	R	-	1	2	S1PR2	10195693	0.000000	0.05858	0.995000	0.50966	0.967000	0.64934	0.272000	0.18644	0.221000	0.20879	0.556000	0.70494	CGG		0.692	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		A	10334693	G	A	10334693	3	1	267	1	0	0	0	0	1	0	0	0	13800	1086	38	1	176	1	S1PR2	19	10334693	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10		10334693	48794290	31	16125											
S1PR2	9294	broad.mit.edu	37	19	10335160	10335160	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr19:10335160C>T	ENST00000590320.1	-	2	532	c.422G>A	c.(421-423)gGc>gAc	p.G141D	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	141					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CTTGTCGCTGCCATACAGCTT	0.642																																					Pancreas(194;229 3020 15179 45747)											0													51	48	49					19																	10335160		2203	4300	6503	SO:0001583	missense	9294			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.422G>A	19.37:g.10335160C>T	ENSP00000466933:p.Gly141Asp		Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374970	0.61735	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.059475	0.64402	D	0.000003	T	0.64360	0.2591	L	0.39020	1.185	0.58432	D	0.999998	D	0.71674	0.998	D	0.66847	0.947	T	0.55958	-0.8058	9	0.09338	T	0.73	.	18.0738	0.89421	0.0:1.0:0.0:0.0	.	141	O95136	S1PR2_HUMAN	D	141	.	ENSP00000322049:G141D	G	-	2	0	S1PR2	10196160	0.987000	0.35691	1.000000	0.80357	0.837000	0.47467	3.311000	0.51919	2.557000	0.86248	0.586000	0.80456	GGC		0.642	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		T	10335160	C	T	10335160	3	4	267	1	0	0	0	0	1	0	0	0	13800	739	26	2	643	2	S1PR2	19	10335160	Missense_Mutation	SNP	C	TCGA-B8-4148-01A-02D-1386-10	467	10335160	48793823	32	16126											
ANKRD27	84079	hgsc.bcm.edu;ucsc.edu	37	19	33149837	33149841	+	Frame_Shift_Del	DEL	CCACT	CCACT	-			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	CCACT	CCACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr19:33149837_33149841delCCACT	ENST00000306065.4	-	2	239_243	c.81_85delAGTGG	c.(79-87)aaagtggccfs	p.KVA27fs	ANKRD27_ENST00000587352.1_Frame_Shift_Del_p.KVA27fs	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	27					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGATTTGGGCCACTTTGCTGCACA	0.507																																																0																																										SO:0001589	frameshift_variant	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.81_85delAGTGG	19.37:g.33149837_33149841delCCACT	ENSP00000304292:p.Lys27fs		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Frame_Shift_Del	DEL	ENST00000306065.4	37	CCDS32986.1																																																																																				0.507	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		-	33149841	CCACT	-	33149837	7	5	267	1	0	1	0	1	0	0	0	0	655	739	26	0	3179	0	ANKRD27	19	33149837	Frame_Shift_Del	DEL	CCACT	TCGA-B8-4148-01A-02D-1386-10	22814677	33149837	25979146	33	16127											
ZNF383	163087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37733520	37733520	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr19:37733520G>C	ENST00000589413.1	+	8	965	c.382G>C	c.(382-384)Gca>Cca	p.A128P	ZNF383_ENST00000352998.3_Missense_Mutation_p.A128P|ZNF383_ENST00000590503.1_Missense_Mutation_p.A128P			Q8NA42	ZN383_HUMAN	zinc finger protein 383	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGCCACCTTGCAAAACAACT	0.383																																																0													108	119	115					19																	37733520		2203	4299	6502	SO:0001583	missense	163087			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.382G>C	19.37:g.37733520G>C	ENSP00000464871:p.Ala128Pro		Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	7.613	0.675156	0.14841	.	.	ENSG00000188283	ENST00000352998	T	0.06768	3.26	3.3	0.966	0.19667	.	1.326770	0.05810	N	0.613885	T	0.04407	0.0121	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43261	-0.9402	10	0.32370	T	0.25	.	7.1864	0.25801	0.0:0.1886:0.6169:0.1945	.	128	Q8NA42	ZN383_HUMAN	P	128	ENSP00000340132:A128P	ENSP00000340132:A128P	A	+	1	0	ZNF383	42425360	0.987000	0.35691	0.176000	0.23000	0.830000	0.47004	0.119000	0.15626	0.190000	0.20209	-0.311000	0.09066	GCA		0.383	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		C	37733520	G	C	37733520	3	2	267	1	0	0	0	0	1	0	0	0	17879	1319	46	4	396	4	ZNF383	19	37733520	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10	4583683	37733520	21395463	34	16128											
PCNA	5111	hgsc.bcm.edu;ucsc.edu	37	20	5098236	5098236	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chr20:5098236A>C	ENST00000379160.3	-	5	704	c.462T>G	c.(460-462)atT>atG	p.I154M	PCNA_ENST00000379143.5_Missense_Mutation_p.I154M	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	154					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						CAGCATCTCCAATATGGCTGA	0.378								DNA polymerases (catalytic subunits)																																								0													107	105	106					20																	5098236		2203	4300	6503	SO:0001583	missense	5111			J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.462T>G	20.37:g.5098236A>C	ENSP00000368458:p.Ile154Met		B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.730790	0.48939	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	5.24	1.78	0.24846	Proliferating cell nuclear antigen, PCNA, C-terminal (1);	0.043989	0.85682	D	0.000000	T	0.62600	0.2441	L	0.49778	1.585	0.54753	D	0.999981	B	0.26318	0.146	P	0.44394	0.448	T	0.56631	-0.7947	9	0.37606	T	0.19	-13.4523	8.0325	0.30474	0.7554:0.0:0.2446:0.0	.	154	P12004	PCNA_HUMAN	M	154	.	ENSP00000368438:I154M	I	-	3	3	PCNA	5046236	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.368000	0.34216	0.327000	0.23409	0.379000	0.24179	ATT		0.378	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2			C	5098236	A	C	5098236	3	2	267	1	0	0	0	0	1	0	0	0	11590	126	5	5	335	5	PCNA	20	5098236	Missense_Mutation	SNP	A	TCGA-B8-4148-01A-02D-1386-10		5098236	57927284	35	16129											
EFHC2	80258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	44132000	44132000	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chrX:44132000T>C	ENST00000420999.1	-	3	397	c.314A>G	c.(313-315)tAc>tGc	p.Y105C		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	105	DM10 1. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AGGGTAGAAGTAGATTTTATA	0.323																																																0													146	125	132					X																	44132000		1876	4050	5926	SO:0001583	missense	80258			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.314A>G	X.37:g.44132000T>C	ENSP00000404232:p.Tyr105Cys		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995581	0.35226	.	.	ENSG00000183690	ENST00000333807;ENST00000420999	T;T	0.44083	0.93;0.93	5.47	-0.36	0.12568	Uncharacterised domain DM10 (2);	0.072462	0.56097	N	0.000021	T	0.57051	0.2027	M	0.80508	2.5	0.53688	D	0.999976	D	0.89917	1.0	D	0.81914	0.995	T	0.54735	-0.8249	10	0.49607	T	0.09	-4.939	5.824	0.18544	0.3592:0.0711:0.0:0.5698	.	105	Q5JST6	EFHC2_HUMAN	C	105;133	ENSP00000333823:Y105C;ENSP00000404232:Y133C	ENSP00000333823:Y105C	Y	-	2	0	EFHC2	44016944	1.000000	0.71417	0.987000	0.45799	0.193000	0.23685	1.232000	0.32636	0.224000	0.20940	-0.424000	0.05967	TAC		0.323	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		C	44132000	T	C	44132000	3	2	267	1	0	0	0	0	1	0	0	0	4949	1638	57	3	1987	3	EFHC2	23	44132000	Missense_Mutation	SNP	T	TCGA-B8-4148-01A-02D-1386-10		44132000	111138560	36	16130											
GNL3L	54552	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54577474	54577474	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chrX:54577474G>C	ENST00000336470.4	+	10	993	c.854G>C	c.(853-855)gGa>gCa	p.G285A	GNL3L_ENST00000360845.2_Missense_Mutation_p.G285A	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	285	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GCTGTTCCTGGAATTACCAAG	0.547																																																0													106	84	91					X																	54577474		2203	4300	6503	SO:0001583	missense	54552			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.854G>C	X.37:g.54577474G>C	ENSP00000338573:p.Gly285Ala			Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934018	0.73442	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.23754	1.89;1.89	4.62	4.62	0.57501	GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68081	-0.5503	10	0.87932	D	0	-12.9784	15.9815	0.80114	0.0:0.0:1.0:0.0	.	285	Q9NVN8	GNL3L_HUMAN	A	285	ENSP00000338573:G285A;ENSP00000354091:G285A	ENSP00000338573:G285A	G	+	2	0	GNL3L	54594199	1.000000	0.71417	0.941000	0.38009	0.558000	0.35554	9.005000	0.93587	2.223000	0.72356	0.429000	0.28392	GGA		0.547	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		C	54577474	G	C	54577474	3	2	267	1	0	0	0	0	1	0	0	0	6540	1174	41	4	888	4	GNL3L	23	54577474	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10	10445474	54577474	100693086	37	16131											
RAB39B	116442	broad.mit.edu	37	X	154490260	154490260	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4148-01A-02D-1386-10	TCGA-B8-4148-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe752e2b-e694-4fa9-99d6-46d5bff9e8cf	8dd6ee40-2fae-4cac-a322-ef15761ad2c7	g.chrX:154490260G>C	ENST00000369454.3	-	2	770	c.470C>G	c.(469-471)gCc>gGc	p.A157G		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	157					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACATTAATGGCATCTCGGGC	0.512																																																0													108	86	94					X																	154490260		2203	4300	6503	SO:0001583	missense	116442			AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"RAB, member RAS oncogene"	16499	protein-coding gene	gene with protein product		300774	"mental retardation, X-linked 72"	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.470C>G	X.37:g.154490260G>C	ENSP00000358466:p.Ala157Gly		Q5JT79|Q8NEX3	Missense_Mutation	SNP	ENST00000369454.3	37	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600095	0.28534	.	.	ENSG00000155961	ENST00000369454	T	0.74842	-0.88	5.17	5.17	0.71159	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	N	0.00095	-2.16	0.58432	D	0.999994	B	0.13594	0.008	B	0.19666	0.026	T	0.48151	-0.9060	10	0.21014	T	0.42	.	15.2574	0.73596	0.0:0.0:1.0:0.0	.	157	Q96DA2	RB39B_HUMAN	G	157	ENSP00000358466:A157G	ENSP00000358466:A157G	A	-	2	0	RAB39B	154143454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.387000	0.97232	2.280000	0.76307	0.513000	0.50165	GCC		0.512	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		C	154490260	G	C	154490260	3	2	267	1	0	0	0	0	1	0	0	0	12936	1203	42	4	175	4	RAB39B	23	154490260	Missense_Mutation	SNP	G	TCGA-B8-4148-01A-02D-1386-10	99912786	154490260	780300	38	16132											
TRIM62	55223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33612870	33612870	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr1:33612870G>A	ENST00000291416.5	-	5	1569	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	TRIM62_ENST00000543586.1_Missense_Mutation_p.P325S	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	446	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P446S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGCTTGCCAGGGAACTTCTCG	0.557																																																1	Substitution - Missense(1)	kidney(1)											107	94	98					1																	33612870		2203	4300	6503	SO:0001583	missense	55223			BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1336C>T	1.37:g.33612870G>A	ENSP00000291416:p.Pro446Ser		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	CCDS376.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901980	0.33535	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.57752	0.38;0.38	5.6	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.056364	0.64402	D	0.000001	T	0.32941	0.0846	N	0.00355	-1.605	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.50215	-0.8854	10	0.02654	T	1	.	13.4719	0.61287	0.0:0.0:0.8423:0.1577	.	446	Q9BVG3	TRI62_HUMAN	S	446;325	ENSP00000291416:P446S;ENSP00000441173:P325S	ENSP00000291416:P446S	P	-	1	0	TRIM62	33385457	1.000000	0.71417	0.687000	0.30102	0.933000	0.57130	2.859000	0.48364	1.318000	0.45170	0.491000	0.48974	CCT		0.557	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		A	33612870	G	A	33612870	3	1	268	1	0	0	0	0	1	0	0	0	16542	1232	43	2	95	2	TRIM62	1	33612870	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10		33612870	215637751	1	16133											
L1TD1	54596	hgsc.bcm.edu	37	1	62675673	62675674	+	Missense_Mutation	DNP	GC	GC	TA	rs141196718|rs532563709|rs386631745|rs200789118	byFrequency	TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr1:62675673_62675674GC>TA	ENST00000498273.1	+	4	1522_1523	c.1227_1228GC>TA	c.(1225-1230)gaGCcc>gaTAcc	p.409_410EP>DT	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	409	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aggaggaagagccctcagggct	0.554																																																0																																										SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	Exception_encountered	1.37:g.62675673_62675674delinsTA	ENSP00000419901:p.E409_P410delinsDT		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1																																																																																				0.554	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		TA	62675674	GC	TA	62675673	3	4	268	1	0	0	0	0	1	0	0	0	8591	962	34	4	1233	4	L1TD1	1	62675673	Missense_Mutation	DNP	GC	TCGA-B8-4151-01A-01D-1806-10	29062803	62675673	186574948	2	16134											
SLC44A3	126969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	95357883	95357883	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr1:95357883A>C	ENST00000271227.6	+	14	1769	c.1667A>C	c.(1666-1668)aAc>aCc	p.N556T	SLC44A3_ENST00000527077.1_Missense_Mutation_p.N488T|SLC44A3_ENST00000529450.1_Missense_Mutation_p.N523T|SLC44A3_ENST00000532427.1_Missense_Mutation_p.N476T|SLC44A3_ENST00000446120.2_Missense_Mutation_p.N520T|SLC44A3_ENST00000467909.1_Missense_Mutation_p.N508T	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	556					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N508T(1)|p.N556T(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	ATGGCTTTTAACTACAATCGG	0.393																																																2	Substitution - Missense(2)	kidney(2)											290	282	285					1																	95357883		2203	4300	6503	SO:0001583	missense	126969			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1667A>C	1.37:g.95357883A>C	ENSP00000271227:p.Asn556Thr		B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128706	0.77549	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000002	T	0.23886	0.0578	L	0.39898	1.24	0.43137	D	0.994888	D;P;D;D;D	0.76494	0.999;0.86;0.999;0.999;0.999	D;P;D;D;D	0.85130	0.961;0.561;0.961;0.997;0.997	T	0.03231	-1.1058	10	0.18276	T	0.48	-13.1471	15.2398	0.73461	1.0:0.0:0.0:0.0	.	476;520;488;523;556	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	T	520;556;488;523;508;476	ENSP00000389143:N520T;ENSP00000271227:N556T;ENSP00000433641:N488T;ENSP00000431836:N523T;ENSP00000432789:N508T;ENSP00000436661:N476T	ENSP00000271227:N556T	N	+	2	0	SLC44A3	95130471	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.052000	0.89448	2.054000	0.61138	0.402000	0.26972	AAC		0.393	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		C	95357883	A	C	95357883	3	2	268	1	0	0	0	0	1	0	0	0	14643	43	2	5	1721	5	SLC44A3	1	95357883	Missense_Mutation	SNP	A	TCGA-B8-4151-01A-01D-1806-10	32682210	95357883	153892738	3	16135											
DENND2D	79961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111743023	111743023	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr1:111743023A>T	ENST00000357640.4	-	1	288	c.59T>A	c.(58-60)cTc>cAc	p.L20H	CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000369752.5_Intron|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	20					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L20H(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		ACCTGCTCGGAGTTGAAGCAG	0.557																																																1	Substitution - Missense(1)	kidney(1)											92	72	79					1																	111743023		2203	4300	6503	SO:0001583	missense	79961				CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.59T>A	1.37:g.111743023A>T	ENSP00000350266:p.Leu20His		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	CCDS831.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.415147	0.01145	.	.	ENSG00000162777	ENST00000357640	T	0.14391	2.51	4.31	0.599	0.17519	.	.	.	.	.	T	0.01254	0.0041	N	0.03115	-0.41	0.20638	N	0.999875	B	0.02656	0.0	B	0.01281	0.0	T	0.47182	-0.9137	9	0.32370	T	0.25	-0.7369	1.4174	0.02305	0.5275:0.2051:0.1004:0.167	.	20	Q9H6A0	DEN2D_HUMAN	H	20	ENSP00000350266:L20H	ENSP00000350266:L20H	L	-	2	0	DENND2D	111544546	0.000000	0.05858	0.033000	0.17914	0.011000	0.07611	-0.268000	0.08607	0.092000	0.17331	-0.317000	0.08691	CTC		0.557	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		T	111743023	A	T	111743023	3	4	268	1	0	0	0	0	1	0	0	0	4433	304	11	5	1404	5	DENND2D	1	111743023	Missense_Mutation	SNP	A	TCGA-B8-4151-01A-01D-1806-10	16385140	111743023	137507598	4	16136											
FLAD1	80308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154962043	154962043	+	Silent	SNP	T	T	G			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr1:154962043T>G	ENST00000292180.3	+	3	1447	c.1125T>G	c.(1123-1125)tcT>tcG	p.S375S	FLAD1_ENST00000368433.1_Silent_p.S375S|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000315144.10_Silent_p.S278S|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Silent_p.S278S|FLAD1_ENST00000295530.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	375					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.S375S(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGGGTCTTCTTTGGGGAAAA	0.547																																																1	Substitution - coding silent(1)	kidney(1)											89	89	89					1																	154962043		2203	4300	6503	SO:0001819	synonymous_variant	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1125T>G	1.37:g.154962043T>G			Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	ENST00000292180.3	37	CCDS1078.1																																																																																				0.547	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		G	154962043	T	G	154962043	2	3	268	1	0	0	0	0	0	0	0	1	5922	1596	56	5		5	FLAD1	1	154962043	Silent	SNP	T	TCGA-B8-4151-01A-01D-1806-10	43219020	154962043	94288578	5	16137											
VSIG8	391123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159827560	159827560	+	Silent	SNP	C	C	T			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr1:159827560C>T	ENST00000368100.1	-	4	762	c.627G>A	c.(625-627)gaG>gaA	p.E209E	C1orf204_ENST00000368102.1_5'Flank|C1orf204_ENST00000491974.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	209	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)	p.E209E(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					TGTGGAAGGACTCCTGGTAGG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											57	58	58					1																	159827560		2203	4300	6503	SO:0001819	synonymous_variant	391123				CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"Immunoglobulin superfamily / V-set domain containing"	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.627G>A	1.37:g.159827560C>T			Q5VU14	Silent	SNP	ENST00000368100.1	37	CCDS30913.1																																																																																				0.572	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		T	159827560	C	T	159827560	2	4	268	1	0	0	0	0	0	0	0	1	17231	564	20	2		2	VSIG8	1	159827560	Silent	SNP	C	TCGA-B8-4151-01A-01D-1806-10	4865517	159827560	89423061	6	16138											
C1orf14	81626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	182869151	182869151	+	Silent	SNP	G	G	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr1:182869151G>A	ENST00000367547.3	-	10	2165	c.1929C>T	c.(1927-1929)aaC>aaT	p.N643N	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Silent_p.N524N	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	715								p.N643N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CCCCCTTGACGTTTGCTTCTA	0.308																																																1	Substitution - coding silent(1)	kidney(1)											88	88	88					1																	182869151		2202	4300	6502	SO:0001819	synonymous_variant	0			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1929C>T	1.37:g.182869151G>A			Q4G195|Q9BZQ3|Q9H2B6	Silent	SNP	ENST00000367547.3	37	CCDS30955.1																																																																																				0.308	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		A	182869151	G	A	182869151	2	1	268	1	0	0	0	0	0	0	0	1	2002	1136	40	1		1	C1orf14	1	182869151	Silent	SNP	G	TCGA-B8-4151-01A-01D-1806-10	23041591	182869151	66381470	7	16139											
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	216166458	216166458	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr1:216166458C>A	ENST00000307340.3	-	35	7095	c.6709G>T	c.(6709-6711)Gac>Tac	p.D2237Y	USH2A_ENST00000366943.2_Missense_Mutation_p.D2237Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2237	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D2237Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGTCCTCGTCAGTTAGGGCC	0.507										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											182	163	169					1																	216166458		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6709G>T	1.37:g.216166458C>A	ENSP00000305941:p.Asp2237Tyr	2234	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739341	0.89573	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	6.17	5.26	0.73747	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.547689	0.14977	N	0.287475	T	0.47746	0.1462	L	0.51422	1.61	0.09310	N	0.999999	P	0.43169	0.8	B	0.39185	0.293	T	0.51458	-0.8703	10	0.62326	D	0.03	.	12.1962	0.54298	0.0:0.8715:0.0:0.1285	.	2237	O75445	USH2A_HUMAN	Y	2237	ENSP00000305941:D2237Y;ENSP00000355910:D2237Y	ENSP00000305941:D2237Y	D	-	1	0	USH2A	214233081	0.891000	0.30450	0.049000	0.19019	0.932000	0.56968	2.267000	0.43329	2.941000	0.99782	0.655000	0.94253	GAC		0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216166458	C	A	216166458	3	1	268	1	0	0	0	0	1	0	0	0	17041	826	29	4	9051	4	USH2A	1	216166458	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10	33297307	216166458	33084163	8	16140											
C2orf29	55571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	101885856	101885856	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr2:101885856A>C	ENST00000289382.3	+	7	1677	c.1514A>C	c.(1513-1515)gAg>gCg	p.E505A	RNF149_ENST00000485752.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	505					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E505A(1)									ACACCTTCTGAGACCAAAATG	0.413																																																1	Substitution - Missense(1)	kidney(1)											104	106	106					2																	101885856		2203	4300	6503	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1514A>C	2.37:g.101885856A>C	ENSP00000289382:p.Glu505Ala		Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545787	0.65198	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.38480	0.1042	N	0.22421	0.69	0.80722	D	1	P	0.39665	0.682	B	0.37731	0.257	T	0.23368	-1.0190	9	0.09843	T	0.71	-31.3574	16.4484	0.83959	1.0:0.0:0.0:0.0	.	505	Q9UKZ1	CB029_HUMAN	A	505	.	ENSP00000289382:E505A	E	+	2	0	C2orf29	101252288	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.170000	0.94795	2.285000	0.76669	0.533000	0.62120	GAG		0.413	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		C	101885856	A	C	101885856	3	2	268	1	0	0	0	0	1	0	0	0	2163	304	11	5	1540	5	C2orf29	2	101885856	Missense_Mutation	SNP	A	TCGA-B8-4151-01A-01D-1806-10		101885856	141313517	9	16141											
ACVR2A	92	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	148677842	148677842	+	Missense_Mutation	SNP	G	G	T	rs111862877		TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr2:148677842G>T	ENST00000241416.7	+	8	1642	c.1006G>T	c.(1006-1008)Gct>Tct	p.A336S	ACVR2A_ENST00000404590.1_Missense_Mutation_p.A336S|ACVR2A_ENST00000535787.1_Missense_Mutation_p.A228S	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.A336S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CAACCTGACAGCTTGCATTGC	0.348																																																1	Substitution - Missense(1)	kidney(1)											93	97	96					2																	148677842		2203	4300	6503	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1006G>T	2.37:g.148677842G>T	ENSP00000241416:p.Ala336Ser		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584944	0.86748	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.94046	-3.34;-3.34;-3.34	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.093907	0.64402	D	0.000001	D	0.96294	0.8791	M	0.74389	2.26	0.80722	D	1	P	0.41748	0.761	P	0.57679	0.825	D	0.96153	0.9109	10	0.66056	D	0.02	.	19.586	0.95490	0.0:0.0:1.0:0.0	.	336	P27037	AVR2A_HUMAN	S	336;228;336	ENSP00000241416:A336S;ENSP00000439988:A228S;ENSP00000384338:A336S	ENSP00000241416:A336S	A	+	1	0	ACVR2A	148394312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.957000	0.87870	2.699000	0.92147	0.655000	0.94253	GCT		0.348	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		T	148677842	G	T	148677842	3	4	268	1	0	0	0	0	1	0	0	0	223	971	34	4	1036	4	ACVR2A	2	148677842	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10	46791986	148677842	94521531	10	16142											
SP140	11262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	231090582	231090582	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr2:231090582G>A	ENST00000392045.3	+	1	137	c.23G>A	c.(22-24)gGg>gAg	p.G8E	SP110_ENST00000540870.1_5'Flank|SP140_ENST00000373645.3_Missense_Mutation_p.G8E|SP140_ENST00000420434.3_Missense_Mutation_p.G8E|SP140_ENST00000417495.3_Missense_Mutation_p.G8E|SP140_ENST00000343805.6_Missense_Mutation_p.G8E|SP140_ENST00000486687.2_Missense_Mutation_p.G8E|SP140_ENST00000350136.5_5'UTR	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	8					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G8E(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGCCAGCAGGGGCAGATGGCA	0.552																																																2	Substitution - Missense(2)	kidney(2)											159	130	140					2																	231090582		2203	4300	6503	SO:0001583	missense	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.23G>A	2.37:g.231090582G>A	ENSP00000375899:p.Gly8Glu		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368351	0.42003	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434;ENST00000373645	T;T;T;T;T	0.61392	0.33;0.4;0.11;0.37;0.48	2.87	0.688	0.18027	.	.	.	.	.	T	0.32315	0.0825	N	0.08118	0	0.20638	N	0.999878	B;B;B;B;B;B	0.22346	0.005;0.005;0.009;0.012;0.068;0.004	B;B;B;B;B;B	0.12837	0.002;0.002;0.006;0.002;0.008;0.002	T	0.22138	-1.0225	9	0.87932	D	0	.	4.9125	0.13829	0.3476:0.0:0.6524:0.0	.	8;8;8;8;8;8	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75;Q6NSG4	.;.;.;LY10_HUMAN;.;.	E	8	ENSP00000440107:G8E;ENSP00000375899:G8E;ENSP00000342096:G8E;ENSP00000398210:G8E;ENSP00000362749:G8E	ENSP00000342096:G8E	G	+	2	0	SP140	230798826	0.000000	0.05858	0.016000	0.15963	0.592000	0.36648	-0.831000	0.04405	0.160000	0.19432	0.585000	0.79938	GGG		0.552	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		A	231090582	G	A	231090582	3	1	268	1	0	0	0	0	1	0	0	0	14968	1232	43	2	25	2	SP140	2	231090582	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10	82412740	231090582	12108791	11	16143											
NCL	4691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	232323070	232323070	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr2:232323070T>C	ENST00000322723.4	-	8	1436	c.1196A>G	c.(1195-1197)aAt>aGt	p.N399S	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA|SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	399	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.N399S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		GTAAGGGAGATTTTTAGCCAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											93	89	90					2																	232323070		2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1196A>G	2.37:g.232323070T>C	ENSP00000318195:p.Asn399Ser		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313633	0.81358	.	.	ENSG00000115053	ENST00000322723;ENST00000392033	T	0.27557	1.66	5.79	5.79	0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.042254	0.85682	N	0.000000	T	0.53546	0.1803	M	0.80508	2.5	0.80722	D	1	P	0.46277	0.875	P	0.57057	0.812	T	0.58685	-0.7593	10	0.87932	D	0	-30.3439	13.9068	0.63841	0.0:0.0:0.0:1.0	.	399	P19338	NUCL_HUMAN	S	399;291	ENSP00000318195:N399S	ENSP00000318195:N399S	N	-	2	0	NCL	232031314	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.448000	0.73469	2.221000	0.72209	0.456000	0.33151	AAT		0.408	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		C	232323070	T	C	232323070	3	2	268	1	0	0	0	0	1	0	0	0	10228	1493	52	3	964	3	NCL	2	232323070	Missense_Mutation	SNP	T	TCGA-B8-4151-01A-01D-1806-10	1232488	232323070	10876303	12	16144											
VHL	7428	hgsc.bcm.edu	37	3	10183804	10183805	+	Frame_Shift_Del	DEL	CG	CG	-	rs587780731		TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01W-1244-10	CG	CG	CG	-	CG	CG	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	099df9a3-e2e2-4441-b88d-a83da347cbae	g.chr3:10183804_10183805delCG	ENST00000256474.2	+	1	1113_1114	c.273_274delCG	c.(271-276)ttcgacfs	p.FD91fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.FD91fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	91			F -> L (in cerebellar hemangioblastoma). {ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.D92fs*38(1)|p.F91fs*68(1)|p.F91fs*64(1)|p.R60fs*35(1)|p.N90fs*67(1)|p.D92Y(1)|p.V84_E94>E(1)|p.L89fs*67(1)|p.N90fs*38(1)|p.F91_E94del(1)|p.D92N(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGCTCAACTTCGACGGCGAGCC	0.718		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Deletion - Frameshift(7)|Substitution - Missense(2)|Complex - deletion inframe(1)|Deletion - In frame(1)	kidney(11)	GRCh37	CM042500	VHL	M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.273_274delCG	3.37:g.10183804_10183805delCG	ENSP00000256474:p.Phe91fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.718	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183805	CG	-	10183804	7	5	268	1	0	1	0	1	0	0	0	0	17167	883	31	0	275	0	VHL	3	10183804	Frame_Shift_Del	DEL	CG	TCGA-B8-4151-01A-01D-1806-10		10183804	187838626	13	16145											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52436345	52436345	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr3:52436345delG	ENST00000460680.1	-	17	2620	c.2149delC	c.(2149-2151)cggfs	p.R718fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.R700fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CGTTTCCGCCGGTCAGGCTTC	0.662			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													23	26	25					3																	52436345		2202	4294	6496	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2149delC	3.37:g.52436345delG	ENSP00000417132:p.Arg718fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																				0.662	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52436345	G	-	52436345	7	5	268	1	0	1	0	1	0	0	0	0	1311	1115	39	0	44	0	BAP1	3	52436345	Frame_Shift_Del	DEL	G	TCGA-B8-4151-01A-01D-1806-10	42252541	52436345	145586085	14	16146											
SCOC	60592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	141302257	141302257	+	Silent	SNP	A	A	G			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr4:141302257A>G	ENST00000608372.1	+	4	506	c.479A>G	c.(478-480)tAa>tGa	p.*160*	SCOC_ENST00000512749.1_Silent_p.*83*|SCOC_ENST00000394205.3_Silent_p.*123*|SCOC_ENST00000506322.1_Silent_p.*83*|SCOC_ENST00000502535.1_Silent_p.*83*|SCOC_ENST00000338517.4_Silent_p.*123*|SCOC_ENST00000510586.1_Silent_p.*83*|SCOC_ENST00000506597.1_Silent_p.*132*|SCOC_ENST00000394203.3_Silent_p.*123*|SCOC_ENST00000394201.4_Silent_p.*83*			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	0					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.*160*(1)|p.*123*(1)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAAAGAAAGTAAGGGATTGAC	0.333																																																2	Substitution - coding silent(2)	kidney(2)											37	37	37					4																	141302257		2203	4295	6498	SO:0001819	synonymous_variant	60592			AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"short coiled coil protein"			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.479A>G	4.37:g.141302257A>G			B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Silent	SNP	ENST00000608372.1	37	CCDS54806.1																																																																																				0.333	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257274.2			G	141302257	A	G	141302257	2	3	268	1	0	0	0	0	0	0	0	1	13939	369	13	3		3	SCOC	4	141302257	Silent	SNP	A	TCGA-B8-4151-01A-01D-1806-10		141302257	49852019	15	16147											
RAPGEF2	9693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	160273849	160273849	+	Missense_Mutation	SNP	C	C	T	rs546918296		TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr4:160273849C>T	ENST00000264431.4	+	21	3814	c.3395C>T	c.(3394-3396)gCt>gTt	p.A1132V		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1132	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.A1120V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TATACTTTGGCTCCCAGTGGT	0.373													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19567	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											95	89	91					4																	160273849		1878	4101	5979	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3395C>T	4.37:g.160273849C>T	ENSP00000264431:p.Ala1132Val		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.80|13.80	2.346495|2.346495	0.41599|0.41599	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000510253	T|.	0.37235|.	1.21|.	6.07|6.07	5.21|5.21	0.72293|0.72293	.|.	0.101183|.	0.64402|.	D|.	0.000002|.	T|T	0.59404|0.59404	0.2191|0.2191	L|L	0.36672|0.36672	1.1|1.1	0.45272|0.45272	D|D	0.998273|0.998273	B|.	0.13145|.	0.007|.	B|.	0.12156|.	0.007|.	T|T	0.55679|0.55679	-0.8103|-0.8103	10|5	0.02654|.	T|.	1|.	.|.	17.2077|17.2077	0.86922|0.86922	0.0:0.874:0.126:0.0|0.0:0.874:0.126:0.0	.|.	1132|.	Q9Y4G8|.	RPGF2_HUMAN|.	V|F	1132|189	ENSP00000264431:A1132V|.	ENSP00000264431:A1132V|.	A|L	+|+	2|1	0|0	RAPGEF2|RAPGEF2	160493299|160493299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.546000|1.546000	0.36179|0.36179	1.536000|1.536000	0.49237|0.49237	0.655000|0.655000	0.94253|0.94253	GCT|CTC		0.373	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		T	160273849	C	T	160273849	3	4	268	1	0	0	0	0	1	0	0	0	13050	797	28	2	3477	2	RAPGEF2	4	160273849	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10	18971592	160273849	30880427	16	16148											
KLKB1	3818	broad.mit.edu	37	4	187172722	187172722	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr4:187172722T>A	ENST00000264690.6	+	9	1137	c.950T>A	c.(949-951)gTt>gAt	p.V317D	KLKB1_ENST00000513864.1_Missense_Mutation_p.V317D	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	317	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.V317D(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGAGTGAATGTTTGCCAAGAG	0.363																																																2	Substitution - Missense(2)	kidney(2)											103	110	107					4																	187172722		2203	4299	6502	SO:0001583	missense	3818			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.950T>A	4.37:g.187172722T>A	ENSP00000264690:p.Val317Asp		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	5.403|5.403	0.259607|0.259607	0.10239|0.10239	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.87966	.|-2.32;-2.32	5.27|5.27	-10.5|-10.5	0.00291|0.00291	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|1.961310	.|0.02328	.|N	.|0.073626	T|T	0.68229|0.68229	0.2978|0.2978	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;B;P	.|0.42584	.|0.784;0.003;0.491	.|B;B;B	.|0.39617	.|0.305;0.008;0.305	T|T	0.72849|0.72849	-0.4168|-0.4168	5|10	.|0.41790	.|T	.|0.15	.|.	2.9248|2.9248	0.05780|0.05780	0.1545:0.2069:0.1519:0.4866|0.1545:0.2069:0.1519:0.4866	.|.	.|279;317;317	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	I|D	365|317;317;279	.|ENSP00000264690:V317D;ENSP00000424469:V317D	.|ENSP00000264690:V317D	F|V	+|+	1|2	0|0	KLKB1|KLKB1	187409716|187409716	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.116000|0.116000	0.19942|0.19942	-3.378000|-3.378000	0.00492|0.00492	-4.009000|-4.009000	0.00082|0.00082	-0.303000|-0.303000	0.09236|0.09236	TTT|GTT		0.363	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		A	187172722	T	A	187172722	3	1	268	1	0	0	0	0	1	0	0	0	8414	1725	60	5	980	5	KLKB1	4	187172722	Missense_Mutation	SNP	T	TCGA-B8-4151-01A-01D-1806-10	26898873	187172722	3981554	17	16149											
TBC1D9B	23061	hgsc.bcm.edu;ucsc.edu	37	5	179299981	179299981	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr5:179299981delT	ENST00000356834.3	-	14	2363	c.2326delA	c.(2326-2328)agcfs	p.S776fs	TBC1D9B_ENST00000519746.1_5'Flank|TBC1D9B_ENST00000355235.3_Frame_Shift_Del_p.S776fs|TBC1D9B_ENST00000444477.2_5'Flank	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	776						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTCAGGCTGCTGAATTTC	0.562																																																0													106	101	103					5																	179299981		2203	4300	6503	SO:0001589	frameshift_variant	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2326delA	5.37:g.179299981delT	ENSP00000349291:p.Ser776fs		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Frame_Shift_Del	DEL	ENST00000356834.3	37	CCDS43408.1																																																																																				0.562	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		-	179299981	T	-	179299981	7	5	268	1	0	1	0	1	0	0	0	0	15633	1580	55	0	1462	0	TBC1D9B	5	179299981	Frame_Shift_Del	DEL	T	TCGA-B8-4151-01A-01D-1806-10		179299981	1615279	18	16150											
C6orf62	81688	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24706388	24706388	+	Missense_Mutation	SNP	G	G	T	rs372450488		TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr6:24706388G>T	ENST00000378119.4	-	5	2834	c.667C>A	c.(667-669)Ctc>Atc	p.L223I	RP1-30M3.6_ENST00000606921.1_RNA|C6orf62_ENST00000378102.3_Missense_Mutation_p.L194I|C6orf62_ENST00000540769.1_Missense_Mutation_p.L165I	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	223						intracellular (GO:0005622)		p.L223I(2)		endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TAAGGACGGAGGTGATCCTCT	0.443																																																2	Substitution - Missense(2)	kidney(2)											131	112	119					6																	24706388		2203	4300	6503	SO:0001583	missense	81688			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"HBV X-transactivated protein 12"					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.667C>A	6.37:g.24706388G>T	ENSP00000367359:p.Leu223Ile		Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866619	0.72065	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.41065	1.01;1.01;1.01	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.49153	-0.8969	10	0.66056	D	0.02	-11.0338	20.8794	0.99867	0.0:0.0:1.0:0.0	.	223	Q9GZU0	CF062_HUMAN	I	223;165;194	ENSP00000367359:L223I;ENSP00000446225:L165I;ENSP00000367342:L194I	ENSP00000367342:L194I	L	-	1	0	C6orf62	24814367	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.772000	0.98984	2.941000	0.99782	0.655000	0.94253	CTC		0.443	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		T	24706388	G	T	24706388	3	4	268	1	0	0	0	0	1	0	0	0	2370	1000	35	4	26	4	C6orf62	6	24706388	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10		24706388	146408679	19	16151											
ZNF12	7559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6731954	6731954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr7:6731954delA	ENST00000405858.1	-	5	1160	c.619delT	c.(619-621)tatfs	p.Y207fs	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Frame_Shift_Del_p.Y169fs|ZNF12_ENST00000404360.1_Frame_Shift_Del_p.Y133fs	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	207					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ATTTTCTGATAAAGACTTTCT	0.338																																																0													40	38	39					7																	6731954		1819	4085	5904	SO:0001589	frameshift_variant	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.619delT	7.37:g.6731954delA	ENSP00000385939:p.Tyr207fs		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Frame_Shift_Del	DEL	ENST00000405858.1	37	CCDS47538.1																																																																																				0.338	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		-	6731954	A	-	6731954	7	5	268	1	0	1	0	1	0	0	0	0	17723	362	13	0	1478	0	ZNF12	7	6731954	Frame_Shift_Del	DEL	A	TCGA-B8-4151-01A-01D-1806-10		6731954	152406709	20	16152											
EMID2	136227	broad.mit.edu;hgsc.bcm.edu	37	7	101063346	101063346	+	RNA	SNP	T	T	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr7:101063346T>A	ENST00000397927.3	+	0	460				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.C83S(1)									GTACCAGAGCTGCCGGTGGCC	0.647																																																1	Substitution - Missense(1)	kidney(1)											28	39	35					7																	101063346		2032	4175	6207			136227			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063346T>A			Q32M90	Missense_Mutation	SNP	ENST00000397927.3	37		.	.	.	.	.	.	.	.	.	.	T	26.9	4.781499	0.90282	.	.	ENSG00000160963	ENST00000313669	D	0.88664	-2.41	4.95	4.95	0.65309	EMI domain (2);	0.000000	0.40728	U	0.001037	D	0.95143	0.8426	M	0.90977	3.165	0.40999	D	0.984919	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	D	0.96222	0.9161	10	0.87932	D	0	.	12.5981	0.56481	0.0:0.0:0.0:1.0	.	83;83	Q96A83;C9JPW4	EMID2_HUMAN;.	S	83	ENSP00000318234:C83S	ENSP00000318234:C83S	C	+	1	0	EMID2	100850066	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.368000	0.79567	1.871000	0.54225	0.456000	0.33151	TGC		0.647	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		A	101063346	T	A	101063346	1	1	268	0	1	0	0	0	0	0	0	0	5094	1580	55	5		5	EMID2	7	101063346	RNA	SNP	T	TCGA-B8-4151-01A-01D-1806-10	94331392	101063346	58075317	21	16153											
TRIM55	84675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67047249	67047249	+	Silent	SNP	C	C	A	rs151067178		TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr8:67047249C>A	ENST00000315962.4	+	3	739	c.366C>A	c.(364-366)ccC>ccA	p.P122P	TRIM55_ENST00000350034.4_Silent_p.P122P|TRIM55_ENST00000276573.7_Silent_p.P122P|TRIM55_ENST00000353317.5_Silent_p.P122P	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	122					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.P122P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCGACCAGCCCATGTGCGAGG	0.517																																																1	Substitution - coding silent(1)	kidney(1)											143	116	125					8																	67047249		2203	4300	6503	SO:0001819	synonymous_variant	84675			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.366C>A	8.37:g.67047249C>A			B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	ENST00000315962.4	37	CCDS6184.1																																																																																				0.517	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		A	67047249	C	A	67047249	2	1	268	1	0	0	0	0	0	0	0	1	16534	581	21	4		4	TRIM55	8	67047249	Silent	SNP	C	TCGA-B8-4151-01A-01D-1806-10		67047249	79316773	22	16154											
PABPC1	26986	broad.mit.edu	37	8	101724606	101724606	+	Missense_Mutation	SNP	G	G	A	rs202060459		TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr8:101724606G>A	ENST00000318607.5	-	7	2084	c.956C>T	c.(955-957)aCa>aTa	p.T319I	PABPC1_ENST00000519004.1_Missense_Mutation_p.T274I|PABPC1_ENST00000522387.1_Missense_Mutation_p.T287I|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	319	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.T319I(2)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTAGTGATTGTACCAAATGG	0.284																																																2	Substitution - Missense(2)	kidney(1)|endometrium(1)											154	166	162					8																	101724606		2203	4298	6501	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.956C>T	8.37:g.101724606G>A	ENSP00000313007:p.Thr319Ile		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768189|4.768189	0.90020|0.90020	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.64402	.|D	.|0.000009	.|T	.|0.37652	.|0.1011	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.54964	.|0.917;0.784;0.969	.|P;B;P	.|0.56916	.|0.747;0.442;0.809	.|T	.|0.03784	.|-1.1004	.|10	.|0.87932	.|D	.|0	.|.	20.0919|20.0919	0.97823|0.97823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;319;319	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	X|I	188|319;319;274;287	.|ENSP00000313007:T319I;ENSP00000429594:T274I;ENSP00000429395:T287I	.|ENSP00000313007:T319I	Q|T	-|-	1|2	0|0	PABPC1|PABPC1	101793782|101793782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.776000|9.776000	0.99001|0.99001	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.284	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101724606	G	A	101724606	3	1	268	1	0	0	0	0	1	0	0	0	11365	1377	48	2	986	2	PABPC1	8	101724606	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10	34677357	101724606	44639416	23	16155											
REXO4	57109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136279971	136279971	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr9:136279971C>T	ENST00000371942.3	-	2	585	c.386G>A	c.(385-387)aGg>aAg	p.R129K	REXO4_ENST00000478037.1_Intron|REXO4_ENST00000371935.2_Intron|ADAMTS13_ENST00000485925.1_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	129					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R129K(1)		kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		AACAGAGCCCCTGCTGGCCTC	0.522																																																1	Substitution - Missense(1)	kidney(1)											102	91	95					9																	136279971		2203	4300	6503	SO:0001583	missense	57109			AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"Xenopus prevents mitotic catatrophe 2 homolog", "XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.386G>A	9.37:g.136279971C>T	ENSP00000361010:p.Arg129Lys		B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	C	1.126	-0.653956	0.03480	.	.	ENSG00000148300	ENST00000453165;ENST00000371942;ENST00000445916	T;T;T	0.19532	2.44;2.44;2.14	4.77	-0.0677	0.13759	.	4.823880	0.00166	N	0.000005	T	0.09512	0.0234	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15206	-1.0445	10	0.02654	T	1	-0.7608	0.8281	0.01125	0.171:0.2286:0.3376:0.2628	.	129	Q9GZR2	REXO4_HUMAN	K	114;129;36	ENSP00000403272:R114K;ENSP00000361010:R129K;ENSP00000391534:R36K	ENSP00000361010:R129K	R	-	2	0	REXO4	135269792	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.058000	0.11750	0.074000	0.16767	-0.305000	0.09177	AGG		0.522	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			T	136279971	C	T	136279971	3	4	268	1	0	0	0	0	1	0	0	0	13249	681	24	2	910	2	REXO4	9	136279971	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10		136279971	4933460	24	16156											
MRVI1	10335	broad.mit.edu;ucsc.edu	37	11	10624763	10624763	+	Silent	SNP	C	C	G			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr11:10624763C>G	ENST00000436272.1	-	13	1776	c.1698G>C	c.(1696-1698)cgG>cgC	p.R566R	MRVI1_ENST00000531107.1_Silent_p.R585R|MRVI1_ENST00000424001.1_Silent_p.R278R|MRVI1_ENST00000558540.1_Silent_p.R278R|MRVI1_ENST00000423302.2_Silent_p.R593R|MRVI1_ENST00000545852.1_Silent_p.R278R|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Silent_p.R278R|MRVI1_ENST00000547195.1_Silent_p.R502R|MRVI1_ENST00000527509.2_Silent_p.R502R|MRVI1_ENST00000541483.1_Silent_p.R387R|MRVI1_ENST00000421747.1_Silent_p.R584R|MRVI1_ENST00000552103.1_Silent_p.R502R			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	566					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.R566R(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGTAGGTTTCCCGGTGCTCAC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											43	48	46					11																	10624763		2009	4181	6190	SO:0001819	synonymous_variant	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1698G>C	11.37:g.10624763C>G			B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37																																																																																					0.592	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		G	10624763	C	G	10624763	2	3	268	1	0	0	0	0	0	0	0	1	9855	610	22	4		4	MRVI1	11	10624763	Silent	SNP	C	TCGA-B8-4151-01A-01D-1806-10		10624763	124381753	25	16157											
C11orf94	143678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	45928173	45928173	+	Missense_Mutation	SNP	G	G	A	rs540548996		TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr11:45928173G>A	ENST00000449465.1	-	3	280	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	82						extracellular region (GO:0005576)		p.R82C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TCCCGCTTGCGCTGCTGGGCC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18443	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											66	71	69					11																	45928173		1923	4119	6042	SO:0001583	missense	143678				CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.244C>T	11.37:g.45928173G>A	ENSP00000401498:p.Arg82Cys			Missense_Mutation	SNP	ENST00000449465.1	37	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711302	0.68730	.	.	ENSG00000234776	ENST00000449465	T	0.61392	0.11	4.66	4.66	0.58398	.	.	.	.	.	T	0.70718	0.3256	.	.	.	0.40029	D	0.9755	D	0.89917	1.0	D	0.67231	0.95	T	0.74281	-0.3716	8	0.87932	D	0	-23.401	7.9022	0.29742	0.0:0.1367:0.5187:0.3446	.	82	C9JXX5	CK094_HUMAN	C	82	ENSP00000401498:R82C	ENSP00000401498:R82C	R	-	1	0	C11orf94	45884749	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	3.397000	0.52572	2.419000	0.82065	0.655000	0.94253	CGC		0.577	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	NM_001080446		A	45928173	G	A	45928173	3	1	268	1	0	0	0	0	1	0	0	0	1675	1087	38	1	56	1	C11orf94	11	45928173	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10	35303410	45928173	89078343	26	16158											
SSSCA1	10534	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65338194	65338194	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr11:65338194C>T	ENST00000309328.3	+	2	201	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000531405.1_Missense_Mutation_p.R10C|FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000527920.1_Missense_Mutation_p.R10C|SSSCA1_ENST00000526877.1_Missense_Mutation_p.R47C|SSSCA1-AS1_ENST00000567594.1_RNA|FAM89B_ENST00000530349.1_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	47					mitotic nuclear division (GO:0007067)			p.R47C(1)		kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						GCGCGGTTACCGCATGCTGGG	0.711																																																1	Substitution - Missense(1)	kidney(1)											30	35	33					11																	65338194		2201	4295	6496	SO:0001583	missense	10534			AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"Sjogren's syndrome/scleroderma autoantigen 1"			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.139C>T	11.37:g.65338194C>T	ENSP00000312318:p.Arg47Cys			Missense_Mutation	SNP	ENST00000309328.3	37	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435929	0.83885	.	.	ENSG00000173465	ENST00000309328;ENST00000531405;ENST00000527920;ENST00000526877;ENST00000533115	T;T;T	0.56444	0.84;0.46;0.84	5.64	5.64	0.86602	.	0.112233	0.56097	D	0.000030	T	0.60945	0.2308	L	0.36672	1.1	0.58432	D	0.999997	D	0.89917	1.0	D	0.66847	0.947	T	0.63093	-0.6714	10	0.87932	D	0	-15.4619	12.1925	0.54278	0.1705:0.8295:0.0:0.0	.	47	O60232	SSA27_HUMAN	C	47;10;10;47;41	ENSP00000312318:R47C;ENSP00000431666:R47C;ENSP00000435432:R41C	ENSP00000312318:R47C	R	+	1	0	SSSCA1	65094770	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.173000	0.65010	2.654000	0.90174	0.555000	0.69702	CGC		0.711	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		T	65338194	C	T	65338194	3	4	268	1	0	0	0	0	1	0	0	0	15200	652	23	1	145	1	SSSCA1	11	65338194	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10	19410021	65338194	69668322	27	16159											
NPAS4	266743	hgsc.bcm.edu	37	11	66189604	66189604	+	Silent	SNP	G	G	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr11:66189604G>A	ENST00000311034.2	+	2	365	c.189G>A	c.(187-189)gcG>gcA	p.A63A		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	63					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCCTCTGGCGGGCCCCACGG	0.567																																																0													36	40	39					11																	66189604		2200	4295	6495	SO:0001819	synonymous_variant	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.189G>A	11.37:g.66189604G>A			B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	CCDS8138.1																																																																																				0.567	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		A	66189604	G	A	66189604	2	1	268	1	0	0	0	0	0	0	0	1	10567	1103	39	1		1	NPAS4	11	66189604	Silent	SNP	G	TCGA-B8-4151-01A-01D-1806-10	851410	66189604	68816912	28	16160											
PGR	5241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	100933375	100933375	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr11:100933375C>G	ENST00000325455.5	-	4	3468	c.2015G>C	c.(2014-2016)aGa>aCa	p.R672T	PGR_ENST00000534013.1_Missense_Mutation_p.R78T|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	672					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R672T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AAAAGTGAATCTCTGGCTTAG	0.443																																					Pancreas(124;2271 2354 21954 22882)											1	Substitution - Missense(1)	kidney(1)											194	172	179					11																	100933375		2203	4300	6503	SO:0001583	missense	5241			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2015G>C	11.37:g.100933375C>G	ENSP00000325120:p.Arg672Thr		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257646	0.80246	.	.	ENSG00000082175	ENST00000325455;ENST00000534013	D;D	0.86432	-1.72;-2.12	5.5	5.5	0.81552	Nuclear hormone receptor, ligand-binding (1);	0.291451	0.37393	N	0.002114	D	0.89223	0.6654	M	0.65498	2.005	0.80722	D	1	P;P	0.46706	0.774;0.883	P;B	0.46758	0.526;0.4	D	0.88791	0.3278	10	0.42905	T	0.14	.	19.3866	0.94557	0.0:1.0:0.0:0.0	.	672;53	P06401;A7LQ08	PRGR_HUMAN;.	T	672;78	ENSP00000325120:R672T;ENSP00000436561:R78T	ENSP00000325120:R672T	R	-	2	0	PGR	100438585	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.825000	0.62708	2.559000	0.86315	0.655000	0.94253	AGA		0.443	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			G	100933375	C	G	100933375	3	3	268	1	0	0	0	0	1	0	0	0	11807	913	32	4	806	4	PGR	11	100933375	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10	34743771	100933375	34073141	29	16161											
RAD51AP1	10635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	4668106	4668106	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr12:4668106T>A	ENST00000352618.4	+	9	1005	c.955T>A	c.(955-957)Ttg>Atg	p.L319M	RAD51AP1_ENST00000228843.9_Missense_Mutation_p.L336M|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.L217M|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.L286M|RAD51AP1_ENST00000544927.1_3'UTR|RAD51AP1_ENST00000544931.1_3'UTR	NM_006479.4	NP_006470.1			RAD51 associated protein 1									p.L319M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			CCGCCTTGGCTTGTCCAGATT	0.493																																																1	Substitution - Missense(1)	kidney(1)											143	125	132					12																	4668106		2203	4300	6503	SO:0001583	missense	10635			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.955T>A	12.37:g.4668106T>A	ENSP00000309479:p.Leu319Met			Missense_Mutation	SNP	ENST00000352618.4	37	CCDS8529.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832272	0.50845	.	.	ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.32	-0.647	0.11468	.	0.000000	0.56097	D	0.000038	T	0.66107	0.2756	M	0.77103	2.36	0.39407	D	0.966681	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	T	0.65800	-0.6080	10	0.87932	D	0	-4.5228	7.2884	0.26352	0.0:0.5522:0.0:0.4478	.	217;336;336;319	B4DUS5;Q96B01;A8K313;Q96B01-2	.;R51A1_HUMAN;.;.	M	286;217;336;319	ENSP00000323750:L286M;ENSP00000439960:L217M;ENSP00000228843:L336M;ENSP00000309479:L319M	ENSP00000228843:L336M	L	+	1	2	RAD51AP1	4538367	0.989000	0.36119	0.998000	0.56505	0.992000	0.81027	-0.060000	0.11712	-0.025000	0.13918	0.533000	0.62120	TTG		0.493	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479		A	4668106	T	A	4668106	3	1	268	1	0	0	0	0	1	0	0	0	12992	1606	56	5	1044	5	RAD51AP1	12	4668106	Missense_Mutation	SNP	T	TCGA-B8-4151-01A-01D-1806-10		4668106	129183789	30	16162											
GDF3	9573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7842617	7842617	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr12:7842617G>T	ENST00000329913.3	-	2	999	c.952C>A	c.(952-954)Cat>Aat	p.H318N		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	318					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.H318N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCAACGGCATGCATCAGGGCT	0.507																																																1	Substitution - Missense(1)	kidney(1)											122	109	114					12																	7842617		2203	4300	6503	SO:0001583	missense	9573			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.952C>A	12.37:g.7842617G>T	ENSP00000331745:p.His318Asn		Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861128	0.32884	.	.	ENSG00000184344	ENST00000329913	D	0.83673	-1.75	4.35	1.03	0.20045	Transforming growth factor-beta, C-terminal (3);	0.404207	0.31301	N	0.007900	T	0.67813	0.2933	N	0.25094	0.71	0.58432	D	0.999996	B	0.16802	0.019	B	0.29353	0.101	T	0.51926	-0.8643	10	0.07482	T	0.82	.	9.1114	0.36730	0.0:0.129:0.6725:0.1985	.	318	Q9NR23	GDF3_HUMAN	N	318	ENSP00000331745:H318N	ENSP00000331745:H318N	H	-	1	0	GDF3	7733884	1.000000	0.71417	0.565000	0.28409	0.917000	0.54804	3.101000	0.50283	0.364000	0.24374	0.561000	0.74099	CAT		0.507	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			T	7842617	G	T	7842617	3	4	268	1	0	0	0	0	1	0	0	0	6317	1319	46	4	146	4	GDF3	12	7842617	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10	3174511	7842617	126009278	31	16163			1	27		2	2	49	N	T_G	9.767993e-05
GDF3	9573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7842665	7842665	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr12:7842665T>C	ENST00000329913.3	-	2	951	c.904A>G	c.(904-906)Acc>Gcc	p.T302A		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	302					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.T302A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGAGAGATGGTCAGTGAGAAG	0.527																																																1	Substitution - Missense(1)	kidney(1)											121	109	113					12																	7842665		2203	4300	6503	SO:0001583	missense	9573			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.904A>G	12.37:g.7842665T>C	ENSP00000331745:p.Thr302Ala		Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955758	0.34471	.	.	ENSG00000184344	ENST00000329913	D	0.83335	-1.71	4.61	3.46	0.39613	Transforming growth factor-beta, C-terminal (3);	0.140867	0.64402	N	0.000006	T	0.66458	0.2791	N	0.12569	0.235	0.43593	D	0.995941	B	0.24317	0.101	B	0.33568	0.166	T	0.57277	-0.7839	10	0.09590	T	0.72	.	7.8913	0.29680	0.0:0.0993:0.0:0.9007	.	302	Q9NR23	GDF3_HUMAN	A	302	ENSP00000331745:T302A	ENSP00000331745:T302A	T	-	1	0	GDF3	7733932	0.993000	0.37304	1.000000	0.80357	0.976000	0.68499	1.018000	0.30002	1.854000	0.53819	0.459000	0.35465	ACC		0.527	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			C	7842665	T	C	7842665	3	2	268	1	0	0	0	0	1	0	0	0	6317	1667	58	3	194	3	GDF3	12	7842665	Missense_Mutation	SNP	T	TCGA-B8-4151-01A-01D-1806-10	48	7842665	126009230	32	16164			1	27		2	2	49	N	T_G	9.767993e-05
KLRC1	3821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10603588	10603588	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr12:10603588G>T	ENST00000359151.3	-	2	349	c.168C>A	c.(166-168)gaC>gaA	p.D56E	KLRC1_ENST00000544822.1_Missense_Mutation_p.D56E|KLRC1_ENST00000536188.1_Missense_Mutation_p.D56E|KLRC1_ENST00000347831.5_Missense_Mutation_p.D56E|KLRC1_ENST00000408006.3_Missense_Mutation_p.D56E	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	56					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.D56E(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						GATAGGTTTTGTCATTCCCTT	0.388																																																1	Substitution - Missense(1)	kidney(1)											168	169	169					12																	10603588		2202	4300	6502	SO:0001583	missense	3821			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"Killer cell lectin-like receptors", "CD molecules"	6374	protein-coding gene	gene with protein product	"NKG2-1/B activating NK receptor"	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.168C>A	12.37:g.10603588G>T	ENSP00000352064:p.Asp56Glu			Missense_Mutation	SNP	ENST00000359151.3	37	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	G	8.257	0.810264	0.16537	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63	3.96	-0.249	0.13011	.	1.394250	0.04331	N	0.352426	T	0.06416	0.0165	L	0.37507	1.11	0.09310	N	1	B;P	0.48503	0.047;0.911	B;P	0.48166	0.068;0.569	T	0.25537	-1.0129	10	0.40728	T	0.16	.	2.4422	0.04497	0.1104:0.3639:0.3396:0.1862	.	56;56	P26715-2;P26715	.;NKG2A_HUMAN	E	56	ENSP00000441432:D56E;ENSP00000352064:D56E;ENSP00000385304:D56E;ENSP00000256965:D56E;ENSP00000438038:D56E	ENSP00000256965:D56E	D	-	3	2	KLRC1	10494855	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.164000	0.03135	0.049000	0.15920	0.655000	0.94253	GAC		0.388	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		T	10603588	G	T	10603588	3	4	268	1	0	0	0	0	1	0	0	0	8417	1368	48	4	557	4	KLRC1	12	10603588	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10	2760923	10603588	123248307	33	16165											
MLL2	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49427164	49427164	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr12:49427164C>T	ENST00000301067.7	-	39	11323	c.11324G>A	c.(11323-11325)gGc>gAc	p.G3775D	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3775	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3505D(1)|p.G3775D(1)									AGGCATAAGGCCCTGGGGCTT	0.652																																																2	Substitution - Missense(2)	kidney(2)											19	24	23					12																	49427164		2117	4247	6364	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11324G>A	12.37:g.49427164C>T	ENSP00000301067:p.Gly3775Asp		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	3.719	-0.057996	0.07317	.	.	ENSG00000167548	ENST00000301067	T	0.78595	-1.19	5.02	4.13	0.48395	.	0.000000	0.35378	N	0.003252	T	0.74543	0.3730	N	0.14661	0.345	0.28381	N	0.919536	D	0.69078	0.997	P	0.59115	0.852	T	0.71272	-0.4642	10	0.87932	D	0	.	12.5007	0.55953	0.0:0.9162:0.0:0.0838	.	3775	O14686	MLL2_HUMAN	D	3775	ENSP00000301067:G3775D	ENSP00000301067:G3775D	G	-	2	0	MLL2	47713431	0.642000	0.27260	0.816000	0.32577	0.279000	0.26890	1.683000	0.37638	1.248000	0.43934	0.462000	0.41574	GGC		0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49427164	C	T	49427164	3	4	268	1	0	0	0	0	1	0	0	0	9623	739	26	2	5353	2	MLL2	12	49427164	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10	38823576	49427164	84424731	34	16166											
KRT78	196374	hgsc.bcm.edu;ucsc.edu	37	12	53242598	53242615	+	In_Frame_Del	DEL	CCTGCTGCTGAAGCCGCC	CCTGCTGCTGAAGCCGCC	-	rs200256832|rs201230964|rs199880767	byFrequency	TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	CCTGCTGCTGAAGCCGCC	CCTGCTGCTGAAGCCGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr12:53242598_53242615delCCTGCTGCTGAAGCCGCC	ENST00000304620.4	-	1	163_180	c.100_117delGGCGGCTTCAGCAGCAGG	c.(100-117)ggcggcttcagcagcaggdel	p.GGFSSR34del	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	34	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AATTAAGGCTCCTGCTGCTGAAGCCGCCCCTGCTGCTG	0.67														25	0.00499201	0.0015	0.0317	5008	,	,		15766	0.001		0.0	False		,,,				2504	0.0															0										6,4246		2,2,2122						5.1	1			19	33,8189		12,9,4090	no	coding	KRT78	NM_173352.2		14,11,6212	A1A1,A1R,RR		0.4014,0.1411,0.3127				39,12435				SO:0001651	inframe_deletion	196374			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.100_117delGGCGGCTTCAGCAGCAGG	12.37:g.53242598_53242615delCCTGCTGCTGAAGCCGCC	ENSP00000306261:p.Gly34_Arg39del		A8K4D6|Q5HYM7|Q7RTT2	In_Frame_Del	DEL	ENST00000304620.4	37	CCDS8840.1																																																																																				0.67	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		-	53242615	CCTGCTGCTGAAGCCGCC	-	53242598	7	5	268	1	0	1	0	1	0	0	0	0	8493	854	30	0	1481	0	KRT78	12	53242598	In_Frame_Del	DEL	CCTGCTGCTGAAGCCGCC	TCGA-B8-4151-01A-01D-1806-10	3815434	53242598	80609297	35	16167											
ATP5G2	517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54063038	54063038	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr12:54063038C>A	ENST00000549164.1	-	4	392	c.205G>T	c.(205-207)Gac>Tac	p.D69Y	ATP5G2_ENST00000550241.1_5'Flank|ATP5G2_ENST00000602871.1_Missense_Mutation_p.D69Y|ATP5G2_ENST00000394349.3_Missense_Mutation_p.D126Y|ATP5G2_ENST00000338662.5_Missense_Mutation_p.D85Y			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	69					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.D85Y(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GCTGCTGTGTCGATGTCCCTT	0.547																																																1	Substitution - Missense(1)	kidney(1)											68	64	65					12																	54063038		2203	4300	6503	SO:0001583	missense	517			X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	842	protein-coding gene	gene with protein product		603193	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.205G>T	12.37:g.54063038C>A	ENSP00000447317:p.Asp69Tyr		B3KQQ6	Missense_Mutation	SNP	ENST00000549164.1	37		.	.	.	.	.	.	.	.	.	.	C	29.4	4.998880	0.93227	.	.	ENSG00000135390	ENST00000394349;ENST00000549164;ENST00000338662	T;T;T	0.40476	1.03;1.03;1.03	5.26	5.26	0.73747	ATPase, F0/V0 complex, subunit C (2);	0.046351	0.85682	D	0.000000	T	0.69351	0.3101	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.917;0.99;0.991	T	0.69647	-0.5089	10	0.39692	T	0.17	-14.6556	18.169	0.89739	0.0:1.0:0.0:0.0	.	69;85;126	Q06055;Q06055-3;Q06055-2	AT5G2_HUMAN;.;.	Y	126;69;85	ENSP00000377878:D126Y;ENSP00000447317:D69Y;ENSP00000340315:D85Y	ENSP00000340315:D85Y	D	-	1	0	ATP5G2	52349305	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	7.528000	0.81941	2.906000	0.99361	0.655000	0.94253	GAC		0.547	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		A	54063038	C	A	54063038	3	1	268	1	0	0	0	0	1	0	0	0	1154	884	31	4	228	4	ATP5G2	12	54063038	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10	820440	54063038	79788857	36	16168											
TAC3	6866	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57409489	57409489	+	Silent	SNP	A	A	T			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr12:57409489A>T	ENST00000458521.2	-	2	252	c.93T>A	c.(91-93)gtT>gtA	p.V31V	TAC3_ENST00000415231.1_Silent_p.V31V|TAC3_ENST00000441881.1_Silent_p.V31V	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	31					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.V31V(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CCCCGCCAGGAACCACCTCCT	0.587																																																1	Substitution - coding silent(1)	kidney(1)											77	75	76					12																	57409489		2203	4300	6503	SO:0001819	synonymous_variant	6866			AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"Endogenous ligands"	11521	protein-coding gene	gene with protein product	"preprotachykinin-B"	162330	"neuromedin K", "neurokinin beta"	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.93T>A	12.37:g.57409489A>T			Q6IAG2|Q71BC6|Q71BC9	Silent	SNP	ENST00000458521.2	37	CCDS8928.1																																																																																				0.587	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667		T	57409489	A	T	57409489	2	4	268	1	0	0	0	0	0	0	0	1	15504	233	9	5		5	TAC3	12	57409489	Silent	SNP	A	TCGA-B8-4151-01A-01D-1806-10	3346451	57409489	76442406	37	16169											
SFRS8	6433	hgsc.bcm.edu;ucsc.edu	37	12	132211499	132211506	+	Frame_Shift_Del	DEL	TCTGACAA	TCTGACAA	-			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	TCTGACAA	TCTGACAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr12:132211499_132211506delTCTGACAA	ENST00000261674.4	+	6	988_995	c.847_854delTCTGACAA	c.(847-855)tctgacaatfs	p.SDN283fs	SFSWAP_ENST00000541286.1_Frame_Shift_Del_p.SDN283fs	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	283					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGGAGTCAGCTCTGACAATGAAGATGAT	0.37																																																0																																										SO:0001589	frameshift_variant	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.847_854delTCTGACAA	12.37:g.132211499_132211506delTCTGACAA	ENSP00000261674:p.Ser283fs		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Frame_Shift_Del	DEL	ENST00000261674.4	37	CCDS9273.1																																																																																				0.37	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		-	132211506	TCTGACAA	-	132211499	7	5	268	1	0	1	0	1	0	0	0	0	14189	1551	54	0	869	0	SFRS8	12	132211499	Frame_Shift_Del	DEL	TCTGACAA	TCGA-B8-4151-01A-01D-1806-10	74802010	132211499	1640396	38	16170											
PLEKHG3	26030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	65204095	65204095	+	Splice_Site	SNP	T	T	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr14:65204095T>C	ENST00000394691.1	+	14	1551		c.e14+2		PLEKHG3_ENST00000247226.7_Splice_Site|PLEKHG3_ENST00000484731.2_5'Flank|PLEKHG3_ENST00000471182.2_5'Flank			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3								Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGAATGAAGGTAAAGGCCAGT	0.627																																																1	Unknown(1)	kidney(1)											35	32	33					14																	65204095		2202	4299	6501	SO:0001630	splice_region_variant	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1404+2T>C	14.37:g.65204095T>C			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Splice_Site	SNP	ENST00000394691.1	37		.	.	.	.	.	.	.	.	.	.	T	8.152	0.787700	0.16258	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	.	.	.	5.13	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9861	0.35994	0.0:0.0:0.1874:0.8126	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHG3	64273848	1.000000	0.71417	0.928000	0.36995	0.034000	0.12701	3.891000	0.56227	0.785000	0.33685	-0.313000	0.08912	.		0.627	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549	Intron	C	65204095	T	C	65204095	5	2	268	1	0	0	0	0	0	0	1	0	12072	1652	57	3	1280	3	PLEKHG3	14	65204095	Splice_Site	SNP	T	TCGA-B8-4151-01A-01D-1806-10		65204095	42145445	39	16171											
MAP1A	4130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43821515	43821515	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr15:43821515C>A	ENST00000300231.5	+	4	8294	c.7844C>A	c.(7843-7845)cCa>cAa	p.P2615Q	MAP1A_ENST00000382031.1_Missense_Mutation_p.P2853Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.P2615Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2615					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.P2615Q(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGGCCAAGCCAGCGTCCCCT	0.662																																																1	Substitution - Missense(1)	kidney(1)											48	59	56					15																	43821515		2004	4165	6169	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7844C>A	15.37:g.43821515C>A	ENSP00000300231:p.Pro2615Gln		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925627	0.52759	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01572	4.76;4.83;4.78	5.14	5.14	0.70334	.	.	.	.	.	T	0.04907	0.0132	N	0.17082	0.46	0.44409	D	0.997328	D	0.76494	0.999	D	0.67548	0.952	T	0.57335	-0.7829	9	0.72032	D	0.01	-9.9982	18.7812	0.91933	0.0:1.0:0.0:0.0	.	2615	P78559	MAP1A_HUMAN	Q	2853;2615;2615	ENSP00000371462:P2853Q;ENSP00000382380:P2615Q;ENSP00000300231:P2615Q	ENSP00000300231:P2615Q	P	+	2	0	MAP1A	41608807	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.211000	0.77933	2.660000	0.90430	0.462000	0.41574	CCA		0.662	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		A	43821515	C	A	43821515	3	1	268	1	0	0	0	0	1	0	0	0	9229	594	21	4	7846	4	MAP1A	15	43821515	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10		43821515	58709877	40	16172											
RUNDC2A	92017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	12136831	12136831	+	Missense_Mutation	SNP	G	G	T	rs200498279	byFrequency	TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr16:12136831G>T	ENST00000566228.1	+	5	394	c.325G>T	c.(325-327)Gcc>Tcc	p.A109S	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	109	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.A109S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCGCCACATCGCCTCAGACGT	0.657																																																1	Substitution - Missense(1)	kidney(1)											43	36	38					16																	12136831		2197	4300	6497	SO:0001583	missense	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.325G>T	16.37:g.12136831G>T	ENSP00000456480:p.Ala109Ser		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	8.219	0.801987	0.16397	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.64	-1.3	0.09259	.	0.486656	0.20636	N	0.088489	T	0.07683	0.0193	N	0.00368	-1.59	0.80722	D	1	.	.	.	.	.	.	T	0.15694	-1.0428	7	0.10636	T	0.68	3.6012	2.7979	0.05406	0.4239:0.0:0.2267:0.3493	.	.	.	.	S	109	.	ENSP00000268271:A109S	A	+	1	0	RUNDC2A	12044332	0.534000	0.26362	0.792000	0.32020	0.953000	0.61014	0.807000	0.27140	-0.060000	0.13132	-0.521000	0.04368	GCC		0.657	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			T	12136831	G	T	12136831	3	4	268	1	0	0	0	0	1	0	0	0	13749	1087	38	4	343	4	RUNDC2A	16	12136831	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10		12136831	78217922	41	16173											
SALL1	6299	broad.mit.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	51173118	51173119	+	Missense_Mutation	DNP	AA	AA	CT			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr16:51173118_51173119AA>CT	ENST00000251020.4	-	2	3047_3048	c.3014_3015TT>AG	c.(3013-3015)aTT>aAG	p.I1005K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.I908K	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1005					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I1005N(1)|p.I1005M(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTTGCCACAAATGTCACAAGC	0.396																																					GBM(103;1352 1446 1855 4775 8890)											2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3014_3015delinsCT	16.37:g.51173118_51173119delinsCT	ENSP00000251020:p.Ile1005Lys		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.396	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		CT	51173119	AA	CT	51173118	3	2	268	1	0	0	0	0	1	0	0	0	13816	10	1	5	967	5	SALL1	16	51173118	Missense_Mutation	DNP	AA	TCGA-B8-4151-01A-01D-1806-10	39036287	51173118	39181635	42	16174											
CTCF	10664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67660544	67660544	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr16:67660544C>A	ENST00000264010.4	+	8	1888	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I	CTCF_ENST00000401394.1_Missense_Mutation_p.L154I	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	482					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L482I(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCGCTATGCCCTCATCCAGCA	0.453																																					Colon(175;1200 1966 6945 23069 27405)											1	Substitution - Missense(1)	kidney(1)											123	99	108					16																	67660544		2198	4300	6498	SO:0001583	missense	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1444C>A	16.37:g.67660544C>A	ENSP00000264010:p.Leu482Ile		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286348	0.95517	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.53857	0.6;0.6	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000026	T	0.75989	0.3925	M	0.83852	2.665	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.79738	-0.1677	10	0.87932	D	0	-2.215	19.0968	0.93255	0.0:1.0:0.0:0.0	.	482	P49711	CTCF_HUMAN	I	482;154	ENSP00000264010:L482I;ENSP00000384707:L154I	ENSP00000264010:L482I	L	+	1	0	CTCF	66218045	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.596000	0.87737	0.561000	0.74099	CTC		0.453	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		A	67660544	C	A	67660544	3	1	268	1	0	0	0	0	1	0	0	0	4002	681	24	4	1466	4	CTCF	16	67660544	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10	16487426	67660544	22694209	43	16175											
GEMIN4	50628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	649272	649272	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr17:649272G>C	ENST00000319004.5	-	2	2129	c.2011C>G	c.(2011-2013)Ctg>Gtg	p.L671V	GEMIN4_ENST00000576778.1_Missense_Mutation_p.L660V	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	671					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.L671V(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAGATCCTCAGACTGAGGTCT	0.532																																																2	Substitution - Missense(2)	kidney(2)											41	44	43					17																	649272		1965	4150	6115	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2011C>G	17.37:g.649272G>C	ENSP00000321706:p.Leu671Val		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057818	0.55325	.	.	ENSG00000179409	ENST00000319004	T	0.14266	2.52	5.57	4.6	0.57074	.	0.000000	0.64402	D	0.000001	T	0.34077	0.0885	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06991	-1.0796	10	0.87932	D	0	-9.1078	11.773	0.51970	0.0805:0.0:0.9195:0.0	.	671	P57678	GEMI4_HUMAN	V	671	ENSP00000321706:L671V	ENSP00000321706:L671V	L	-	1	2	GEMIN4	596022	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	2.207000	0.42788	1.361000	0.45981	0.655000	0.94253	CTG		0.532	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		C	649272	G	C	649272	3	2	268	1	0	0	0	0	1	0	0	0	6332	933	33	4	1169	4	GEMIN4	17	649272	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10		649272	80545938	44	16176											
LHX1	3975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35297675	35297675	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr17:35297675A>C	ENST00000254457.5	+	2	1670	c.259A>C	c.(259-261)Aac>Cac	p.N87H	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	87	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.N87H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GTTTCACCTGAACTGCTTCAC	0.552																																																1	Substitution - Missense(1)	kidney(1)											77	63	68					17																	35297675		2203	4300	6503	SO:0001583	missense	3975			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.259A>C	17.37:g.35297675A>C	ENSP00000254457:p.Asn87His		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.981844	0.53827	.	.	ENSG00000132130	ENST00000254457	D	0.87491	-2.26	4.05	4.05	0.47172	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.88662	0.6497	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86281	0.1667	10	0.25106	T	0.35	.	14.0485	0.64719	1.0:0.0:0.0:0.0	.	87	P48742	LHX1_HUMAN	H	87	ENSP00000254457:N87H	ENSP00000254457:N87H	N	+	1	0	LHX1	32371788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.116000	0.71571	2.064000	0.61679	0.459000	0.35465	AAC		0.552	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		C	35297675	A	C	35297675	3	2	268	1	0	0	0	0	1	0	0	0	8772	246	9	5	265	5	LHX1	17	35297675	Missense_Mutation	SNP	A	TCGA-B8-4151-01A-01D-1806-10	34648403	35297675	45897535	45	16177											
CWC25	54883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36963045	36963045	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr17:36963045C>T	ENST00000225428.5	-	7	1172	c.875G>A	c.(874-876)aGg>aAg	p.R292K	CWC25_ENST00000536127.1_Missense_Mutation_p.R229K	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	292								p.R292K(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GGACCGTGACCTTCTGCCCAG	0.577																																																1	Substitution - Missense(1)	kidney(1)											67	65	66					17																	36963045		1957	4151	6108	SO:0001583	missense	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.875G>A	17.37:g.36963045C>T	ENSP00000225428:p.Arg292Lys		A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.240157	0.22711	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	4.88	2.87	0.33458	.	0.125415	0.50627	N	0.000113	T	0.29588	0.0738	N	0.22421	0.69	0.36169	D	0.848622	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.25606	-1.0127	9	0.05351	T	0.99	.	7.6637	0.28417	0.0:0.806:0.0:0.194	.	229;292	B4DJK2;Q9NXE8	.;CWC25_HUMAN	K	292;229	.	ENSP00000225428:R292K	R	-	2	0	CWC25	34216571	.	.	1.000000	0.80357	0.129000	0.20672	.	.	0.656000	0.30886	-0.251000	0.11542	AGG		0.577	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		T	36963045	C	T	36963045	3	4	268	1	0	0	0	0	1	0	0	0	4071	681	24	2	418	2	CWC25	17	36963045	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10	1665370	36963045	44232165	46	16178											
KRTAP1-3	81850	hgsc.bcm.edu	37	17	39190953	39190954	+	Missense_Mutation	DNP	GG	GG	CA	rs71300033|rs78298475|rs75033421		TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr17:39190953_39190954GG>CA	ENST00000344363.5	-	1	153_154	c.120_121CC>TG	c.(118-123)tgCCag>tgTGag	p.Q41E		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	51			Missing (in allele KAP1.1). {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:12228244, ECO:0000269|PubMed:15489334}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AAGCTGGTCTGGCAGCAGCTTG	0.609																																																0																																										SO:0001583	missense	81850			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.120_121delinsCA	17.37:g.39190953_39190954delinsCA	ENSP00000344420:p.Gln41Glu		Q07628|Q8IUG0|Q9BYS2	Missense_Mutation|Silent	SNP	ENST00000344363.5	37	CCDS42323.1																																																																																				0.609	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			CA	39190954	GG	CA	39190953	3	2	268	1	0	0	0	0	1	0	0	0	8505	1357	47	4	386	4	KRTAP1-3	17	39190953	Missense_Mutation	DNP	GG	TCGA-B8-4151-01A-01D-1806-10	2227908	39190953	42004257	47	16179											
KRTAP1-1	81851	hgsc.bcm.edu	37	17	39197538	39197538	+	Missense_Mutation	SNP	G	G	T	rs146863522		TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr17:39197538G>T	ENST00000306271.4	-	1	175	c.112C>A	c.(112-114)Cgc>Agc	p.R38S		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	38			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)		p.R38S(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TCACAGCAGCGTGGCTGGCAG	0.607																																																1	Substitution - Missense(1)	NS(1)											54	68	63					17																	39197538		2019	4207	6226	SO:0001583	missense	81851			AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.112C>A	17.37:g.39197538G>T	ENSP00000305975:p.Arg38Ser		A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	CCDS42324.1	93	0.042582417582417584	46	0.09349593495934959	8	0.022099447513812154	30	0.05244755244755245	9	0.011873350923482849	g	0.001	-3.345547	0.00016	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.24723	1.84	2.68	-1.04	0.10068	.	.	.	.	.	T	0.00144	0.0004	N	0.00031	-2.6	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.27226	-1.0080	8	0.02654	T	1	.	0.9532	0.01380	0.2199:0.1031:0.2626:0.4145	.	38	Q07627	KRA11_HUMAN	S	38;28	ENSP00000305975:R38S	ENSP00000305975:R38S	R	-	1	0	KRTAP1-1	36451064	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.060000	0.14342	-0.640000	0.05495	-3.131000	0.00060	CGC		0.607	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		T	39197538	G	T	39197538	3	4	268	1	0	0	0	0	1	0	0	0	8504	1145	40	4	425	4	KRTAP1-1	17	39197538	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10	6585	39197538	41997672	48	16180											
PCTP	58488	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	53853436	53853436	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr17:53853436G>C	ENST00000268896.5	+	6	745	c.620G>C	c.(619-621)tGt>tCt	p.C207S	PCTP_ENST00000576221.1_Intron|PCTP_ENST00000576183.1_3'UTR|PCTP_ENST00000325214.6_Missense_Mutation_p.C135S|PCTP_ENST00000573500.1_Intron	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	207	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|phospholipid transport (GO:0015914)	cytosol (GO:0005829)	phosphatidylcholine binding (GO:0031210)|phosphatidylcholine transporter activity (GO:0008525)	p.C207S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			GCAAGAGCCTGTCAGAACTAC	0.438																																																1	Substitution - Missense(1)	kidney(1)											100	90	94					17																	53853436		2203	4300	6503	SO:0001583	missense	58488			AK024667	CCDS11588.1, CCDS45741.1	17q21-q24	2011-09-13				ENSG00000141179		"StAR-related lipid transfer (START) domain containing"	8752	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 2"	606055					Standard	NM_021213		Approved	STARD2	uc002iul.4	Q9UKL6		ENST00000268896.5:c.620G>C	17.37:g.53853436G>C	ENSP00000268896:p.Cys207Ser		Q9BSC9|Q9UIT3|Q9UKW7	Missense_Mutation	SNP	ENST00000268896.5	37	CCDS11588.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188938	0.78789	.	.	ENSG00000141179	ENST00000268896;ENST00000417982;ENST00000325214	T	0.78003	-1.14	6.01	5.05	0.67936	Lipid-binding START (3);START-like domain (1);	0.268891	0.43579	D	0.000555	D	0.84813	0.5555	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.83367	0.0005	10	0.32370	T	0.25	-16.1141	11.187	0.48662	0.0837:0.0:0.9163:0.0	.	207	Q9UKL6	PPCT_HUMAN	S	207;135;186	ENSP00000268896:C207S	ENSP00000268896:C207S	C	+	2	0	PCTP	51208435	1.000000	0.71417	0.936000	0.37596	0.980000	0.70556	5.899000	0.69846	1.565000	0.49641	0.650000	0.86243	TGT		0.438	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2	NM_021213		C	53853436	G	C	53853436	3	2	268	1	0	0	0	0	1	0	0	0	11609	1377	48	4	642	4	PCTP	17	53853436	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10	14655898	53853436	27341774	49	16181											
APOH	350	broad.mit.edu;ucsc.edu	37	17	64213023	64213023	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr17:64213023T>G	ENST00000205948.6	-	6	704	c.667A>C	c.(667-669)Aca>Cca	p.T223P		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	223	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.T223P(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TAATAAAGTGTTGGTTTTGCA	0.373																																					Melanoma(155;624 1882 16869 48804 51309)											1	Substitution - Missense(1)	kidney(1)											182	181	181					17																	64213023		2203	4300	6503	SO:0001583	missense	350				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.667A>C	17.37:g.64213023T>G	ENSP00000205948:p.Thr223Pro		B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	t	3.423	-0.117656	0.06838	.	.	ENSG00000091583	ENST00000205948	T	0.64991	-0.13	5.87	0.271	0.15640	Complement control module (2);Sushi/SCR/CCP (3);	1.647620	0.02841	N	0.127947	T	0.47544	0.1451	N	0.26130	0.795	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15896	-1.0421	10	0.29301	T	0.29	.	4.9609	0.14066	0.0:0.4211:0.2633:0.3156	.	223	P02749	APOH_HUMAN	P	223	ENSP00000205948:T223P	ENSP00000205948:T223P	T	-	1	0	APOH	61643485	0.000000	0.05858	0.000000	0.03702	0.250000	0.25880	-0.088000	0.11198	-0.118000	0.11851	-0.763000	0.03452	ACA		0.373	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		G	64213023	T	G	64213023	3	3	268	1	0	0	0	0	1	0	0	0	804	1725	60	5	382	5	APOH	17	64213023	Missense_Mutation	SNP	T	TCGA-B8-4151-01A-01D-1806-10	10359587	64213023	16982187	50	16182											
MRO	83876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	48345981	48345981	+	5'UTR	SNP	T	T	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr18:48345981T>C	ENST00000428869.2	-	0	185				MRO_ENST00000588444.1_Intron|MRO_ENST00000398439.3_5'UTR|MRO_ENST00000256425.2_5'UTR|MRO_ENST00000436348.2_Silent_p.S37S|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000431965.2_Silent_p.S37S			Q9BYG7	MSTRO_HUMAN	maestro							nucleolus (GO:0005730)		p.S37S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TGCCACGTGATGAACCGGAGC	0.602											OREG0024982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											23	27	26					18																	48345981		692	1591	2283	SO:0001623	5_prime_UTR_variant	83876			AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"maestro heat-like repeat containing"	24121	protein-coding gene	gene with protein product	"B29 protein", "beside the Ma29 deletion"	608080	"chromosome 18 open reading frame 3"	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.-74A>G	18.37:g.48345981T>C		953	B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Silent	SNP	ENST00000428869.2	37	CCDS11947.1																																																																																				0.602	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		C	48345981	T	C	48345981	1	2	268	0	1	0	0	0	0	0	0	0	9774	1451	51	3		3	MRO	18	48345981	5'UTR	SNP	T	TCGA-B8-4151-01A-01D-1806-10		48345981	29731267	51	16183											
ZNF208	7757	broad.mit.edu	37	19	22154068	22154068	+	Silent	SNP	T	T	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr19:22154068T>C	ENST00000397126.4	-	4	3916	c.3768A>G	c.(3766-3768)gaA>gaG	p.E1256E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1128E(2)|p.E1256E(1)		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)				TGCCACATTCTTCACATTTGT	0.383																																																3	Substitution - coding silent(3)	kidney(3)											41	44	43					19																	22154068		2101	4236	6337	SO:0001819	synonymous_variant	7757			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.3768A>G	19.37:g.22154068T>C				Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																				0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		C	22154068	T	C	22154068	2	2	268	1	0	0	0	0	0	0	0	1	17771	1606	56	3		3	ZNF208	19	22154068	Silent	SNP	T	TCGA-B8-4151-01A-01D-1806-10		22154068	36974915	52	16184											
DMKN	93099	hgsc.bcm.edu	37	19	36002423	36002423	+	Missense_Mutation	SNP	C	C	T	rs145440628		TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr19:36002423C>T	ENST00000339686.3	-	5	984	c.808G>A	c.(808-810)Ggt>Agt	p.G270S	DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.G270S|DMKN_ENST00000447113.2_Missense_Mutation_p.G270S|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.G270S|DMKN_ENST00000440396.1_Missense_Mutation_p.G270S|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.G270S	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	270	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ctgctgccaccactgctgctg	0.657																																																0													34	26	29					19																	36002423		2198	4297	6495	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.808G>A	19.37:g.36002423C>T	ENSP00000342012:p.Gly270Ser		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	1.760	-0.487106	0.04352	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	3.67	-1.42	0.08913	.	1.322480	0.05258	N	0.515213	T	0.18257	0.0438	N	0.04880	-0.145	0.09310	N	1	P;P;P;P;B	0.41393	0.518;0.748;0.518;0.518;0.347	B;B;B;B;B	0.32980	0.103;0.156;0.103;0.103;0.058	T	0.08086	-1.0739	10	0.05436	T	0.98	2.738	6.6997	0.23219	0.0:0.4525:0.0:0.5475	.	270;270;270;270;270	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	S	270	ENSP00000342012:G270S;ENSP00000394908:G270S;ENSP00000415277:G270S;ENSP00000414743:G270S;ENSP00000388404:G270S;ENSP00000409513:G270S	ENSP00000342012:G270S	G	-	1	0	DMKN	40694263	0.006000	0.16342	0.000000	0.03702	0.028000	0.11728	1.264000	0.33015	-0.150000	0.11195	0.561000	0.74099	GGT		0.657	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002423	C	T	36002423	3	4	268	1	0	0	0	0	1	0	0	0	4584	594	21	2	987	2	DMKN	19	36002423	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10	13848355	36002423	23126560	53	16185											
PAK4	10298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39668357	39668357	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr19:39668357G>A	ENST00000593690.1	+	10	1955	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	PAK4_ENST00000599386.1_Missense_Mutation_p.D357N|PAK4_ENST00000599470.1_Missense_Mutation_p.D357N|PAK4_ENST00000435673.2_Missense_Mutation_p.D510N|PAK4_ENST00000321944.4_Missense_Mutation_p.D420N|PAK4_ENST00000360442.3_Missense_Mutation_p.D510N|PAK4_ENST00000358301.3_Missense_Mutation_p.D510N	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	510	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D510N(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TGAGATGGTGGACGGAGAGCC	0.602																																																1	Substitution - Missense(1)	kidney(1)											164	132	143					19																	39668357		2203	4300	6503	SO:0001583	missense	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1528G>A	19.37:g.39668357G>A	ENSP00000469413:p.Asp510Asn		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323363	0.95708	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	T;T;T	0.13307	2.6;2.6;2.6	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	N	0.10760	0.04	0.80722	D	1	D;P;D	0.67145	0.996;0.781;0.973	D;P;P	0.80764	0.994;0.775;0.906	T	0.24083	-1.0170	10	0.87932	D	0	.	15.9831	0.80127	0.0:0.0:1.0:0.0	.	420;357;510	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	N	510;357;314;266;510;510	ENSP00000351049:D510N;ENSP00000392753:D510N;ENSP00000353625:D510N	ENSP00000326864:D357N	D	+	1	0	PAK4	44360197	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.657000	0.98554	2.629000	0.89072	0.555000	0.69702	GAC		0.602	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			A	39668357	G	A	39668357	3	1	268	1	0	0	0	0	1	0	0	0	11405	1174	41	2	1554	2	PAK4	19	39668357	Missense_Mutation	SNP	G	TCGA-B8-4151-01A-01D-1806-10	3665934	39668357	19460626	54	16186											
ZNF841	284371	broad.mit.edu;hgsc.bcm.edu	37	19	52568835	52568835	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr19:52568835C>T	ENST00000426391.2	-	5	2503	c.1952G>A	c.(1951-1953)tGt>tAt	p.C651Y	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Missense_Mutation_p.C767Y|ZNF841_ENST00000594295.1_Missense_Mutation_p.C767Y|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C767Y(2)|p.C208Y(1)		breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ACATTCATTACATTTGTAAGG	0.428																																																3	Substitution - Missense(3)	kidney(3)											66	61	62					19																	52568835		692	1591	2283	SO:0001583	missense	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1952G>A	19.37:g.52568835C>T	ENSP00000415453:p.Cys651Tyr		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37		.	.	.	.	.	.	.	.	.	.	C	22.2	4.264015	0.80358	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	D;D	0.85088	-1.94;-1.94	1.97	1.97	0.26223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93628	0.7965	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93957	0.7237	9	0.87932	D	0	.	10.95	0.47323	0.0:1.0:0.0:0.0	.	767;651	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	Y	767;651	ENSP00000374185:C767Y;ENSP00000415453:C651Y	ENSP00000374185:C767Y	C	-	2	0	ZNF841	57260647	0.056000	0.20664	0.005000	0.12908	0.883000	0.51084	1.741000	0.38238	1.082000	0.41137	0.313000	0.20887	TGT		0.428	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		T	52568835	C	T	52568835	3	4	268	1	0	0	0	0	1	0	0	0	18194	478	17	2	478	2	ZNF841	19	52568835	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10	12900478	52568835	6560148	55	16187											
LIME1	54923	broad.mit.edu	37	20	62370185	62370185	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr20:62370185A>G	ENST00000309546.3	+	6	907	c.820A>G	c.(820-822)Acg>Gcg	p.T274A	LIME1_ENST00000490824.1_3'UTR|RP4-583P15.14_ENST00000476221.1_3'UTR|RP4-583P15.14_ENST00000467211.1_Intron|RP4-583P15.15_ENST00000490623.2_3'UTR|SLC2A4RG_ENST00000266077.2_5'Flank	NM_017806.2	NP_060276.2	Q9H400	LIME1_HUMAN	Lck interacting transmembrane adaptor 1	274					B cell receptor signaling pathway (GO:0050853)|T cell receptor signaling pathway (GO:0050852)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T274A(1)		kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CGGGGCTGGGACGCCCCCTGC	0.682																																																1	Substitution - Missense(1)	kidney(1)											15	17	16					20																	62370185		2177	4290	6467	SO:0001583	missense	54923			AK000413	CCDS13536.1	20q13.33	2010-05-11			ENSG00000203896	ENSG00000203896			26016	protein-coding gene	gene with protein product		609809				12477932	Standard	NM_017806		Approved	FLJ20406, dJ583P15.4, LIME	uc002ygp.4	Q9H400	OTTHUMG00000032999	ENST00000309546.3:c.820A>G	20.37:g.62370185A>G	ENSP00000309521:p.Thr274Ala		E1P5K5|E1P5K6|Q5JWJ2|Q6XYB3|Q9NX69	Missense_Mutation	SNP	ENST00000309546.3	37	CCDS13536.1	.	.	.	.	.	.	.	.	.	.	A	4.454	0.084151	0.08583	.	.	ENSG00000203896	ENST00000309546	T	0.46063	0.88	2.16	-1.8	0.07907	.	.	.	.	.	T	0.21227	0.0511	N	0.14661	0.345	0.09310	N	0.999995	B	0.22346	0.068	B	0.14578	0.011	T	0.21143	-1.0254	9	0.22706	T	0.39	.	8.0712	0.30691	0.449:0.0:0.551:0.0	.	274	Q9H400	LIME1_HUMAN	A	274	ENSP00000309521:T274A	ENSP00000309521:T274A	T	+	1	0	LIME1	61840629	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.223000	0.01214	-0.464000	0.06963	-0.473000	0.04963	ACG		0.682	LIME1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080225.1	NM_017806		G	62370185	A	G	62370185	3	3	268	1	0	0	0	0	1	0	0	0	8802	275	10	3	838	3	LIME1	20	62370185	Missense_Mutation	SNP	A	TCGA-B8-4151-01A-01D-1806-10		62370185	655335	56	16188											
TUBGCP6	85378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50657163	50657163	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chr22:50657163T>C	ENST00000248846.5	-	21	4894	c.4790A>G	c.(4789-4791)gAt>gGt	p.D1597G	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1597					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.D1597G(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCTCAGCACATCCGGGGCGTT	0.677																																																1	Substitution - Missense(1)	kidney(1)											49	46	47					22																	50657163		2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4790A>G	22.37:g.50657163T>C	ENSP00000248846:p.Asp1597Gly		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027336	0.75390	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.08984	3.03;3.03	4.63	4.63	0.57726	.	0.095514	0.64402	D	0.000001	T	0.25717	0.0626	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.995	T	0.00920	-1.1514	10	0.72032	D	0.01	.	13.8622	0.63569	0.0:0.0:0.0:1.0	.	1589;1597;1597	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	G	1597;283	ENSP00000248846:D1597G;ENSP00000405979:D283G	ENSP00000248846:D1597G	D	-	2	0	TUBGCP6	48999290	1.000000	0.71417	0.472000	0.27241	0.581000	0.36288	7.633000	0.83260	1.945000	0.56424	0.482000	0.46254	GAT		0.677	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		C	50657163	T	C	50657163	3	2	268	1	0	0	0	0	1	0	0	0	16775	1435	50	3	689	3	TUBGCP6	22	50657163	Missense_Mutation	SNP	T	TCGA-B8-4151-01A-01D-1806-10		50657163	647403	57	16189											
P2RY8	286530	broad.mit.edu	37	X	1585028	1585028	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chrX:1585028C>A	ENST00000381297.4	-	2	634	c.424G>T	c.(424-426)Gcc>Tcc	p.A142S	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.A142S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACACGCGGCCACCGCGTAA	0.682			T	CRLF2	"B-ALL, Downs associated ALL"																																		Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	1	Substitution - Missense(1)	kidney(1)											55	52	53					X																	1585028		2202	4293	6495	SO:0001583	missense	286530			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.424G>T	X.37:g.1585028C>A	ENSP00000370697:p.Ala142Ser			Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	5.594	0.294299	0.10567	.	.	ENSG00000182162	ENST00000381297	T	0.73152	-0.72	2.26	-0.189	0.13260	GPCR, rhodopsin-like superfamily (1);	0.969228	0.08388	U	0.953371	T	0.59838	0.2223	L	0.58510	1.815	0.09310	N	1	P	0.38677	0.642	B	0.37508	0.252	T	0.49485	-0.8935	10	0.22109	T	0.4	.	3.5594	0.07877	0.1618:0.5645:0.158:0.1157	.	142	Q86VZ1	P2RY8_HUMAN	S	142	ENSP00000370697:A142S	ENSP00000370697:A142S	A	-	1	0	P2RY8	1545028	0.995000	0.38212	0.691000	0.30163	0.147000	0.21601	2.538000	0.45710	0.740000	0.32651	0.279000	0.19357	GCC		0.682	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		A	1585028	C	A	1585028	3	1	268	1	0	0	0	0	1	0	0	0	11357	739	26	4	659	4	P2RY8	23	1585028	Missense_Mutation	SNP	C	TCGA-B8-4151-01A-01D-1806-10		1585028	153685532	58	16190											
DGKK	139189	hgsc.bcm.edu	37	X	50213423	50213423	+	RNA	SNP	T	T	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chrX:50213423T>A	ENST00000376025.2	-	0	314							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					gctctgtggctggttctgggg	0.642													t|||	3	0.000794702	0.0	0.0	3775	,	,		7416	0.0		0.003	False		,,,				2504	0.0															0													80	93	89					X																	50213423		1867	4080	5947			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213423T>A			B2RP91	Silent	SNP	ENST00000376025.2	37																																																																																					0.642	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		A	50213423	T	A	50213423	1	1	268	0	1	0	0	0	0	0	0	0	4474	1567	55	5		5	DGKK	23	50213423	RNA	SNP	T	TCGA-B8-4151-01A-01D-1806-10	48628395	50213423	105057137	59	16191											
ATRX	546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	76890185	76890185	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chrX:76890185A>C	ENST00000373344.5	-	17	4923	c.4709T>G	c.(4708-4710)tTt>tGt	p.F1570C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.F1532C	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1570					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.F1570C(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATCCCACATAAACTGAACACC	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - Missense(2)|Unknown(1)	kidney(2)|bone(1)											130	129	129					X																	76890185		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4709T>G	X.37:g.76890185A>C	ENSP00000362441:p.Phe1570Cys		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225417	0.58668	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93426	-3.22;-3.22	5.77	5.77	0.91146	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97977	0.9334	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99285	1.0897	10	0.87932	D	0	-9.8173	15.0169	0.71594	1.0:0.0:0.0:0.0	.	1532;1570	P46100-4;P46100	.;ATRX_HUMAN	C	1570;1532	ENSP00000362441:F1570C;ENSP00000378967:F1532C	ENSP00000362441:F1570C	F	-	2	0	ATRX	76776841	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.932000	0.92897	1.929000	0.55896	0.486000	0.48141	TTT		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		C	76890185	A	C	76890185	3	2	268	1	0	0	0	0	1	0	0	0	1208	14	1	5	2845	5	ATRX	23	76890185	Missense_Mutation	SNP	A	TCGA-B8-4151-01A-01D-1806-10	26676762	76890185	78380375	60	16192											
ZBTB33	10009	hgsc.bcm.edu	37	X	119387833	119387834	+	In_Frame_Ins	INS	-	-	TGA	rs201958171|rs77815464|rs59686094		TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chrX:119387833_119387834insTGA	ENST00000326624.2	+	2	791_792	c.563_564insTGA	c.(562-567)tctgat>tcTGAtgat	p.194_195insD	ZBTB33_ENST00000557385.1_In_Frame_Ins_p.194_195insD	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	194					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTTACCGATTCtgatgatgatg	0.396														1942	0.514437	0.2065	0.4078	3775	,	,		15520	0.4494		0.5328	False		,,,				2504	0.4059															0																																										SO:0001652	inframe_insertion	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.579_581dupTGA	X.37:g.119387840_119387842dupTGA	ENSP00000314153:p.Asp194_Asp194dup		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	In_Frame_Ins	INS	ENST00000326624.2	37	CCDS14596.1																																																																																				0.396	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		TGA	119387834	-	TGA	119387833	7	5	268	1	0	1	1	0	0	0	0	0	17541	913	32	0	565	0	ZBTB33	23	119387833	In_Frame_Ins	INS	-	TCGA-B8-4151-01A-01D-1806-10	42497648	119387833	35882727	61	16193											
MAGEC1	9947	hgsc.bcm.edu	37	X	140994055	140994068	+	Frame_Shift_Del	DEL	GAGAGAACTCAGAG	GAGAGAACTCAGAG	-	rs140075882	byFrequency	TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	GAGAGAACTCAGAG	GAGAGAACTCAGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chrX:140994055_140994068delGAGAGAACTCAGAG	ENST00000285879.4	+	4	1151_1164	c.865_878delGAGAGAACTCAGAG	c.(865-879)gagagaactcagagtfs	p.ERTQS289fs	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	289										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAG	0.491										HNSCC(15;0.026)																																						0																																										SO:0001589	frameshift_variant	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.865_878delGAGAGAACTCAGAG	X.37:g.140994055_140994068delGAGAGAACTCAGAG	ENSP00000285879:p.Glu289fs		A0PK03|O75451|Q8TCV4	Frame_Shift_Del	DEL	ENST00000285879.4	37	CCDS35417.1																																																																																				0.491	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		-	140994068	GAGAGAACTCAGAG	-	140994055	7	5	268	1	0	1	0	1	0	0	0	0	9182	1291	45	0	871	0	MAGEC1	23	140994055	Frame_Shift_Del	DEL	GAGAGAACTCAGAG	TCGA-B8-4151-01A-01D-1806-10	21606222	140994055	14276505	62	16194											
SLC6A8	6535	broad.mit.edu;hgsc.bcm.edu	37	X	152956789	152956789	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4151-01A-01D-1806-10	TCGA-B8-4151-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f847558-8bc7-49b0-899d-2a7b8f0e3d1a	41213977-65aa-487a-9d3e-c5cfc7c0ceed	g.chrX:152956789T>A	ENST00000253122.5	+	3	901	c.425T>A	c.(424-426)tTc>tAc	p.F142Y	SLC6A8_ENST00000430077.2_Missense_Mutation_p.F27Y	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	142					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)	p.F142Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GTGATCGTCTTCTACTGCAAC	0.597																																																1	Substitution - Missense(1)	kidney(1)											43	37	39					X																	152956789		2197	4295	6492	SO:0001583	missense	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.425T>A	X.37:g.152956789T>A	ENSP00000253122:p.Phe142Tyr		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	t	14.45	2.537900	0.45176	.	.	ENSG00000130821	ENST00000253122;ENST00000430077	T;T	0.76448	-1.02;-1.02	3.76	3.76	0.43208	.	.	.	.	.	T	0.79167	0.4400	M	0.80332	2.49	0.53688	D	0.999973	B;P;P	0.47962	0.335;0.903;0.774	B;B;P	0.48089	0.261;0.348;0.566	T	0.76664	-0.2876	9	0.12103	T	0.63	.	10.8615	0.46829	0.0:0.0:0.0:1.0	.	142;161;142	D3DWV2;Q59EV7;P48029	.;.;SC6A8_HUMAN	Y	142;27	ENSP00000253122:F142Y;ENSP00000403041:F27Y	ENSP00000253122:F142Y	F	+	2	0	SLC6A8	152609983	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	1.675000	0.37555	1.390000	0.46547	0.356000	0.21956	TTC		0.597	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			A	152956789	T	A	152956789	3	1	268	1	0	0	0	0	1	0	0	0	14696	1783	62	5	435	5	SLC6A8	23	152956789	Missense_Mutation	SNP	T	TCGA-B8-4151-01A-01D-1806-10	11962734	152956789	2313771	63	16195											
AJAP1	55966	hgsc.bcm.edu	37	1	4772582	4772583	+	In_Frame_Ins	INS	-	-	CCA	rs149907194|rs529940202	byFrequency	TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:4772582_4772583insCCA	ENST00000378191.4	+	2	1033_1034	c.652_653insCCA	c.(652-654)gcc>gCCAcc	p.225_226insT	AJAP1_ENST00000378190.3_In_Frame_Ins_p.225_226insT	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AACTGTGGccgccaccaccacc	0.639														10	0.00199681	0.0023	0.0029	5008	,	,		14933	0.0		0.005	False		,,,				2504	0.0															1	Insertion - In frame(1)	large_intestine(1)																																								SO:0001652	inframe_insertion	55966			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.671_673dupCCA	1.37:g.4772589_4772591dupCCA	ENSP00000367433:p.Thr226_Thr227dup		Q9Y229	In_Frame_Ins	INS	ENST00000378191.4	37	CCDS54.1																																																																																				0.639	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		CCA	4772583	-	CCA	4772582	7	5	269	1	0	1	1	0	0	0	0	0	438	1087	38	0	658	0	AJAP1	1	4772582	In_Frame_Ins	INS	-	TCGA-B8-4153-01B-11D-1669-08		4772582	244478039	1	16196											
SLC9A1	6548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27440565	27440565	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:27440565T>G	ENST00000263980.3	-	2	1140	c.565A>C	c.(565-567)Atc>Ctc	p.I189L	SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Missense_Mutation_p.I189L	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	189					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.I189L(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AAGATCAGGATGGTGCCCAGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											82	70	74					1																	27440565		2203	4300	6503	SO:0001583	missense	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.565A>C	1.37:g.27440565T>G	ENSP00000263980:p.Ile189Leu		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	CCDS295.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124002	0.77436	.	.	ENSG00000090020	ENST00000263980;ENST00000374086	T;T	0.19532	2.14;2.14	5.8	5.8	0.92144	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.92784	3.345	0.80722	D	1	B;P	0.50710	0.025;0.938	B;P	0.53006	0.05;0.715	T	0.62338	-0.6875	10	0.87932	D	0	.	15.3267	0.74168	0.0:0.0:0.0:1.0	.	189;189	P19634-2;P19634	.;SL9A1_HUMAN	L	189	ENSP00000263980:I189L;ENSP00000363199:I189L	ENSP00000263980:I189L	I	-	1	0	SLC9A1	27313152	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.004000	0.88535	2.220000	0.72140	0.533000	0.62120	ATC		0.607	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		G	27440565	T	G	27440565	3	3	269	1	0	0	0	0	1	0	0	0	14715	1464	51	5	1926	5	SLC9A1	1	27440565	Missense_Mutation	SNP	T	TCGA-B8-4153-01B-11D-1669-08	22667983	27440565	221810056	2	16197											
KIAA0754	643314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39877427	39877427	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:39877427C>T	ENST00000530275.1	+	1	1277	c.1082C>T	c.(1081-1083)gCa>gTa	p.A361V	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	361										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGCTGGCTGCATCCCAGGAT	0.408																																																0													60	59	59					1																	39877427		1842	4091	5933	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1082C>T	1.37:g.39877427C>T	ENSP00000431179:p.Ala361Val		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	C	11.34	1.608876	0.28623	.	.	ENSG00000255103	ENST00000530275	D	0.86432	-2.12	5.14	2.26	0.28386	.	.	.	.	.	T	0.73434	0.3586	N	0.08118	0	0.09310	N	1	B	0.28933	0.228	B	0.27796	0.083	T	0.65142	-0.6240	9	0.87932	D	0	.	8.3379	0.32225	0.0:0.7582:0.0:0.2418	.	361	O94854	K0754_HUMAN	V	361	ENSP00000431179:A361V	ENSP00000431179:A361V	A	+	2	0	RP4-562N20.1	39650014	0.028000	0.19301	0.962000	0.40283	0.342000	0.28953	1.345000	0.33953	0.578000	0.29487	0.655000	0.94253	GCA		0.408	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		T	39877427	C	T	39877427	3	4	269	1	0	0	0	0	1	0	0	0	8194	710	25	2	1492	2	KIAA0754	1	39877427	Missense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08	12436862	39877427	209373194	3	16198											
AKNAD1	254268	broad.mit.edu;hgsc.bcm.edu	37	1	109369917	109369917	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:109369917T>A	ENST00000370001.3	-	11	2114	c.1846A>T	c.(1846-1848)Aac>Tac	p.N616Y	AKNAD1_ENST00000357393.4_Missense_Mutation_p.N323Y|AKNAD1_ENST00000369995.3_Missense_Mutation_p.N616Y|AKNAD1_ENST00000369994.1_Missense_Mutation_p.N586Y	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	616			N -> K (in dbSNP:rs7551421). {ECO:0000269|PubMed:17974005}.			cytoplasm (GO:0005737)		p.N616Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCTCCACGTTTTGCTTCCTA	0.368																																																1	Substitution - Missense(1)	kidney(1)											150	155	153					1																	109369917		2203	4299	6502	SO:0001583	missense	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1846A>T	1.37:g.109369917T>A	ENSP00000359018:p.Asn616Tyr		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606265	0.28623	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.0	3.86	0.44501	.	0.949771	0.08698	N	0.906845	T	0.04272	0.0118	N	0.19112	0.55	0.09310	N	1	B;B	0.19583	0.037;0.019	B;B	0.13407	0.009;0.009	T	0.42085	-0.9472	10	0.72032	D	0.01	-0.0014	8.1401	0.31078	0.1786:0.0:0.0:0.8214	.	323;616	B4DET8;Q5T1N1	.;AKND1_HUMAN	Y	616;323;586;616	ENSP00000359018:N616Y;ENSP00000349968:N323Y;ENSP00000359011:N586Y;ENSP00000359012:N616Y	ENSP00000349968:N323Y	N	-	1	0	AKNAD1	109171440	0.894000	0.30519	0.068000	0.19968	0.000000	0.00434	3.379000	0.52440	1.013000	0.39391	-0.496000	0.04628	AAC		0.368	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		A	109369917	T	A	109369917	3	1	269	1	0	0	0	0	1	0	0	0	464	1841	64	5	688	5	AKNAD1	1	109369917	Missense_Mutation	SNP	T	TCGA-B8-4153-01B-11D-1669-08	69492490	109369917	139880704	4	16199											
MTMR11	10903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	149903193	149903193	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:149903193G>C	ENST00000439741.2	-	13	1499	c.1249C>G	c.(1249-1251)Ccc>Gcc	p.P417A	MTMR11_ENST00000369140.3_Missense_Mutation_p.P345A|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000492824.1_Intron|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	417	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.P417A(1)|p.P345A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTCAGGAAGGGATGTCCAGCT	0.547																																																2	Substitution - Missense(2)	kidney(2)											75	74	74					1																	149903193		2203	4300	6503	SO:0001583	missense	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1249C>G	1.37:g.149903193G>C	ENSP00000391668:p.Pro417Ala		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	CCDS53360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.197306|4.197306	0.79015|0.79015	.|.	.|.	ENSG00000014914|ENSG00000014914	ENST00000369140;ENST00000439741|ENST00000405710	D;D|.	0.92858|.	-3.12;-3.12|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Myotubularin phosphatase domain (1);|.	0.059304|.	0.64402|.	D|.	0.000001|.	T|T	0.65260|0.65260	0.2674|0.2674	M|M	0.65677|0.65677	2.01|2.01	0.80722|0.80722	D|D	1|1	D;D|P	0.76494|0.47484	0.999;0.999|0.896	D;D|P	0.69654|0.48815	0.941;0.965|0.591	T|T	0.68416|0.68416	-0.5414|-0.5414	10|8	0.02654|0.87932	T|D	1|0	.|.	19.4575|19.4575	0.94900|0.94900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	345;417|243	A4FU01-4;A4FU01|F8W8W0	.;MTMRB_HUMAN|.	A|C	345;417|243	ENSP00000358136:P345A;ENSP00000391668:P417A|.	ENSP00000358136:P345A|ENSP00000384228:S243C	P|S	-|-	1|2	0|0	MTMR11|MTMR11	148169817|148169817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.646000|6.646000	0.74348|0.74348	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.547	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		C	149903193	G	C	149903193	3	2	269	1	0	0	0	0	1	0	0	0	9942	1174	41	4	939	4	MTMR11	1	149903193	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08	40533276	149903193	99347428	5	16200											
SLC39A1	27173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153934708	153934708	+	Silent	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:153934708G>T	ENST00000368623.3	-	2	1065	c.306C>A	c.(304-306)gcC>gcA	p.A102A	SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000310483.6_Silent_p.A102A|SLC39A1_ENST00000368621.1_Silent_p.A102A|SLC39A1_ENST00000356205.4_Silent_p.A102A|SLC39A1_ENST00000537590.1_Intron			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	102					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)	p.A102A(1)		kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TCACGTGCAAGGCTGCCAGGG	0.582																																																1	Substitution - coding silent(1)	kidney(1)											145	152	149					1																	153934708		2203	4300	6503	SO:0001819	synonymous_variant	27173			BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"Solute carriers"	12876	protein-coding gene	gene with protein product		604740	"zinc/iron regulated transporter-like"	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.306C>A	1.37:g.153934708G>T			B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Silent	SNP	ENST00000368623.3	37	CCDS1055.1																																																																																				0.582	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		T	153934708	G	T	153934708	2	4	269	1	0	0	0	0	0	0	0	1	14618	987	35	4		4	SLC39A1	1	153934708	Silent	SNP	G	TCGA-B8-4153-01B-11D-1669-08	4031515	153934708	95315913	6	16201											
RPS27	6232	broad.mit.edu	37	1	153963625	153963625	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:153963625A>C	ENST00000368567.4	+	2	79	c.41A>C	c.(40-42)gAg>gCg	p.E14A	RPS27_ENST00000392558.4_Missense_Mutation_p.E14A|RPS27_ENST00000493224.1_3'UTR	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	14					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|nucleus (GO:0005634)|ribosome (GO:0005840)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)	p.E14A(1)		kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTCCAGAAGAGGAGAAGAGG	0.498																																																1	Substitution - Missense(1)	kidney(1)											68	59	62					1																	153963625		2202	4298	6500	SO:0001583	missense	6232			U57847	CCDS1059.1	1q21	2011-04-06	2008-08-29		ENSG00000177954	ENSG00000177954		"S ribosomal proteins"	10416	protein-coding gene	gene with protein product	"metallopanstimulin 1"	603702	"ribosomal protein S27 (metallopanstimulin 1)"			8908372, 8407955	Standard	NM_001030		Approved	MPS-1, MPS1, S27	uc001fdv.3	P42677	OTTHUMG00000036591	ENST00000368567.4:c.41A>C	1.37:g.153963625A>C	ENSP00000357555:p.Glu14Ala		Q5T4L6	Missense_Mutation	SNP	ENST00000368567.4	37	CCDS1059.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871230	0.72065	.	.	ENSG00000177954	ENST00000368567;ENST00000392558	.	.	.	5.06	5.06	0.68205	.	0.102610	0.35525	N	0.003149	T	0.37625	0.1010	.	.	.	0.43667	D	0.996094	B	0.06786	0.001	B	0.12156	0.007	T	0.30357	-0.9981	8	0.33940	T	0.23	-0.9646	13.975	0.64268	1.0:0.0:0.0:0.0	.	14	P42677	RS27_HUMAN	A	14	.	ENSP00000357555:E14A	E	+	2	0	RPS27	152230249	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.402000	0.59722	2.138000	0.66242	0.454000	0.30748	GAG		0.498	RPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088997.1	NM_001030		C	153963625	A	C	153963625	3	2	269	1	0	0	0	0	1	0	0	0	13644	304	11	5	47	5	RPS27	1	153963625	Missense_Mutation	SNP	A	TCGA-B8-4153-01B-11D-1669-08	28917	153963625	95286996	7	16202											
GBA	2629	broad.mit.edu	37	1	155207294	155207294	+	Silent	SNP	C	C	T	rs371576958		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:155207294C>T	ENST00000327247.5	-	8	1069	c.837G>A	c.(835-837)ctG>ctA	p.L279L	GBA_ENST00000428024.3_Silent_p.L192L|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000536770.1_Silent_p.L166L|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Silent_p.L279L|GBA_ENST00000427500.3_Silent_p.L230L	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	279					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.L279L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	ATCCACTCAACAGCCCAGCAG	0.537									Gaucher disease type I																																							1	Substitution - coding silent(1)	kidney(1)											56	47	50					1																	155207294		2202	4279	6481	SO:0001819	synonymous_variant	2629	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.837G>A	1.37:g.155207294C>T			A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	CCDS1102.1																																																																																				0.537	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		T	155207294	C	T	155207294	2	4	269	1	0	0	0	0	0	0	0	1	6268	465	17	2		2	GBA	1	155207294	Silent	SNP	C	TCGA-B8-4153-01B-11D-1669-08	1243669	155207294	94043327	8	16203											
LAMC1	3915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183102612	183102612	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr1:183102612G>A	ENST00000258341.4	+	22	4033	c.3776G>A	c.(3775-3777)aGg>aAg	p.R1259K		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1259	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R1259K(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GAGGCCAAAAGGGCCGGTGAC	0.517																																																1	Substitution - Missense(1)	kidney(1)											135	134	134					1																	183102612		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3776G>A	1.37:g.183102612G>A	ENSP00000258341:p.Arg1259Lys		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568797	0.28003	.	.	ENSG00000135862	ENST00000258341	T	0.20881	2.04	5.41	1.46	0.22682	.	0.214672	0.46145	N	0.000310	T	0.07593	0.0191	N	0.02916	-0.46	0.22521	N	0.999027	B	0.02656	0.0	B	0.01281	0.0	T	0.30090	-0.9990	10	0.34782	T	0.22	.	7.335	0.26605	0.5148:0.0:0.4852:0.0	.	1259	P11047	LAMC1_HUMAN	K	1259	ENSP00000258341:R1259K	ENSP00000258341:R1259K	R	+	2	0	LAMC1	181369235	1.000000	0.71417	0.099000	0.21106	0.472000	0.32918	2.890000	0.48609	0.363000	0.24346	0.563000	0.77884	AGG		0.517	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		A	183102612	G	A	183102612	3	1	269	1	0	0	0	0	1	0	0	0	8616	1000	35	2	3862	2	LAMC1	1	183102612	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08	27895318	183102612	66148009	9	16204											
MERTK	10461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	112767558	112767559	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr2:112767558_112767559insA	ENST00000295408.4	+	15	2251_2252	c.1994_1995insA	c.(1993-1998)ccaaagfs	p.PK665fs	MERTK_ENST00000421804.2_Frame_Shift_Ins_p.PK665fs|MERTK_ENST00000409780.1_Frame_Shift_Ins_p.PK489fs			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	665	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAAGGCATCCCAAAGCCCATGG	0.426																																																0																																										SO:0001589	frameshift_variant	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1997dupA	2.37:g.112767561_112767561dupA	ENSP00000295408:p.Pro665fs		Q9HBB4	Frame_Shift_Ins	INS	ENST00000295408.4	37	CCDS2094.1																																																																																				0.426	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			A	112767559	-	A	112767558	7	5	269	1	0	1	1	0	0	0	0	0	9481	594	21	0	2052	0	MERTK	2	112767558	Frame_Shift_Ins	INS	-	TCGA-B8-4153-01B-11D-1669-08		112767558	130431815	10	16205											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188262	10188262	+	Missense_Mutation	SNP	A	A	T	rs119103278|rs397516442		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr3:10188262A>T	ENST00000256474.2	+	2	1245	c.405A>T	c.(403-405)ttA>ttT	p.L135F	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	135	Involved in binding to CCT complex.		L -> F (in hemangioblastoma). {ECO:0000269|PubMed:8069849}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L135fs*24(3)|p.V137fs*7(3)|p.L135F(1)|p.?fs(1)|p.N131fs*7(1)|p.L135fs*7(1)|p.E134fs*7(1)|p.L135fs*9(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AAACTGAATTATTTGTGCCAT	0.433		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Deletion - Frameshift(6)|Insertion - Frameshift(5)|Substitution - Missense(1)	kidney(11)|soft_tissue(1)											214	199	204					3																	10188262		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.405A>T	3.37:g.10188262A>T	ENSP00000256474:p.Leu135Phe		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891757	0.72524	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99806	-6.84	5.07	-2.96	0.05547	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.254096	0.33290	N	0.005074	D	0.98400	0.9468	L	0.43152	1.355	0.58432	D	0.999998	P	0.44776	0.843	B	0.42851	0.4	D	0.94170	0.7422	10	0.72032	D	0.01	-2.9719	3.6055	0.08041	0.2483:0.1432:0.4687:0.1398	.	135	P40337	VHL_HUMAN	F	135;53	ENSP00000256474:L135F	ENSP00000256474:L135F	L	+	3	2	VHL	10163262	0.927000	0.31430	0.316000	0.25252	0.888000	0.51559	-0.134000	0.10436	-0.460000	0.07003	0.460000	0.39030	TTA		0.433	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188262	A	T	10188262	3	4	269	1	0	0	0	0	1	0	0	0	17167	446	16	5	411	5	VHL	3	10188262	Missense_Mutation	SNP	A	TCGA-B8-4153-01B-11D-1669-08		10188262	187834168	11	16206											
ZNF148	7707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	124951653	124951653	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr3:124951653delA	ENST00000360647.4	-	9	2402	c.1917delT	c.(1915-1917)aatfs	p.N639fs	ZNF148_ENST00000485866.1_Frame_Shift_Del_p.N639fs|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.N639fs|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.N639fs|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	639					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATGCTGGCTGATTTGGGAGGG	0.453																																																0													165	176	172					3																	124951653		2203	4300	6503	SO:0001589	frameshift_variant	7707			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1917delT	3.37:g.124951653delA	ENSP00000353863:p.Asn639fs		D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Frame_Shift_Del	DEL	ENST00000360647.4	37	CCDS3031.1																																																																																				0.453	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		-	124951653	A	-	124951653	7	5	269	1	0	1	0	1	0	0	0	0	17739	330	12	0	471	0	ZNF148	3	124951653	Frame_Shift_Del	DEL	A	TCGA-B8-4153-01B-11D-1669-08	114763391	124951653	73070777	12	16207											
CEP135	9662	broad.mit.edu;hgsc.bcm.edu	37	4	56884018	56884018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr4:56884018G>T	ENST00000257287.4	+	22	3131	c.3007G>T	c.(3007-3009)Gag>Tag	p.E1003*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1003					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.E1003*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CCTTGAGTTTGAGAGGGTAAG	0.328																																																1	Substitution - Nonsense(1)	kidney(1)											33	36	35					4																	56884018		2203	4300	6503	SO:0001587	stop_gained	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3007G>T	4.37:g.56884018G>T	ENSP00000257287:p.Glu1003*		B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	42	9.606755	0.99217	.	.	ENSG00000174799	ENST00000257287	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	.	.	.	X	1003	.	ENSP00000257287:E1003X	E	+	1	0	CEP135	56578775	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.313000	0.96297	2.677000	0.91161	0.655000	0.94253	GAG		0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		T	56884018	G	T	56884018	4	4	269	1	0	0	0	0	0	1	0	0	3249	1291	45	4	3089	4	CEP135	4	56884018	Nonsense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08		56884018	134270258	13	16208											
TET2	54790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	106156445	106156445	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr4:106156445T>A	ENST00000540549.1	+	3	2206	c.1346T>A	c.(1345-1347)gTg>gAg	p.V449E	TET2_ENST00000545826.1_Missense_Mutation_p.V449E|TET2_ENST00000513237.1_Missense_Mutation_p.V470E|TET2_ENST00000305737.2_Missense_Mutation_p.V449E|TET2_ENST00000413648.2_Missense_Mutation_p.V449E|TET2_ENST00000380013.4_Missense_Mutation_p.V449E|TET2_ENST00000394764.1_Missense_Mutation_p.V449E			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	449					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.V449E(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTAAGGGAAGTGAAAATAGAG	0.458			"Mis N, F"		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	2	Substitution - Missense(2)	kidney(2)											91	88	89					4																	106156445		2203	4300	6503	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1346T>A	4.37:g.106156445T>A	ENSP00000442788:p.Val449Glu		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765809	0.49574	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.03951	3.75;4.41;3.75;4.41;4.41;3.75;3.76	5.38	2.94	0.34122	.	78.882500	0.00559	U	0.000275	T	0.05914	0.0154	L	0.27053	0.805	0.22562	N	0.998985	P;P;P	0.47677	0.718;0.718;0.899	B;B;B	0.42422	0.216;0.216;0.387	T	0.30851	-0.9964	10	0.52906	T	0.07	.	6.1398	0.20253	0.0:0.0837:0.17:0.7463	.	470;449;449	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	E	449;449;449;470;449;449;449;449	ENSP00000306705:V449E;ENSP00000442788:V449E;ENSP00000442867:V449E;ENSP00000425443:V470E;ENSP00000369351:V449E;ENSP00000378245:V449E;ENSP00000391448:V449E	ENSP00000265149:V449E	V	+	2	0	TET2	106375894	0.998000	0.40836	0.929000	0.37066	0.875000	0.50365	1.653000	0.37323	0.348000	0.23949	0.528000	0.53228	GTG		0.458	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		A	106156445	T	A	106156445	3	1	269	1	0	0	0	0	1	0	0	0	15775	1696	59	5	1348	5	TET2	4	106156445	Missense_Mutation	SNP	T	TCGA-B8-4153-01B-11D-1669-08	49272427	106156445	84997831	14	16209											
RPS18	6222	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33240470	33240470	+	Silent	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:33240470G>A	ENST00000439602.2	+	2	179	c.69G>A	c.(67-69)cgG>cgA	p.R23R	VPS52_ENST00000436044.2_5'Flank|VPS52_ENST00000478934.1_5'Flank|VPS52_ENST00000482399.1_5'Flank|RPS18_ENST00000476222.1_3'UTR|VPS52_ENST00000445902.2_5'Flank|RPS18_ENST00000474973.1_5'UTR			P62269	RS18_HUMAN	ribosomal protein S18	23					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.R23R(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						TCGATGGGCGGCGGAAAATAG	0.423																																																1	Substitution - coding silent(1)	kidney(1)											109	110	110					6																	33240470		2203	4300	6503	SO:0001819	synonymous_variant	6222			X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"S ribosomal proteins"	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.69G>A	6.37:g.33240470G>A			P25232|Q5SUJ3|Q6IPF8	Silent	SNP	ENST00000439602.2	37	CCDS4771.1																																																																																				0.423	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2			A	33240470	G	A	33240470	2	1	269	1	0	0	0	0	0	0	0	1	13634	1190	42	2		2	RPS18	6	33240470	Silent	SNP	G	TCGA-B8-4153-01B-11D-1669-08		33240470	137874597	15	16210											
GRM4	2914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	34100944	34100944	+	Silent	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:34100944G>T	ENST00000538487.2	-	2	773	c.330C>A	c.(328-330)tcC>tcA	p.S110S	GRM4_ENST00000374181.4_Silent_p.S110S|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	110					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.S110S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGGTGTCCCTGGAGCAGGTGT	0.642																																																2	Substitution - coding silent(2)	kidney(2)											59	53	55					6																	34100944		2203	4300	6503	SO:0001819	synonymous_variant	2914			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.330C>A	6.37:g.34100944G>T			B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	CCDS4787.1																																																																																				0.642	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			T	34100944	G	T	34100944	2	4	269	1	0	0	0	0	0	0	0	1	6801	1335	47	4		4	GRM4	6	34100944	Silent	SNP	G	TCGA-B8-4153-01B-11D-1669-08	860474	34100944	137014123	16	16211											
UNC5CL	222643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41002579	41002579	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:41002579A>T	ENST00000373164.1	-	1	295	c.235T>A	c.(235-237)Ttc>Atc	p.F79I	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Missense_Mutation_p.F79I			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	79					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.F79I(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCTGGTAGAAGGCAACCATC	0.562																																																1	Substitution - Missense(1)	kidney(1)											228	194	205					6																	41002579		2203	4300	6503	SO:0001583	missense	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.235T>A	6.37:g.41002579A>T	ENSP00000362258:p.Phe79Ile		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242652	0.58995	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.18338	2.22;2.22	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000054	T	0.04634	0.0126	L	0.29908	0.895	0.80722	D	1	P	0.34724	0.465	B	0.30495	0.116	T	0.33317	-0.9873	10	0.20519	T	0.43	-32.4506	10.4013	0.44231	1.0:0.0:0.0:0.0	.	79	Q8IV45	UN5CL_HUMAN	I	79	ENSP00000244565:F79I;ENSP00000362258:F79I	ENSP00000244565:F79I	F	-	1	0	UNC5CL	41110557	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	4.469000	0.60169	1.964000	0.57103	0.460000	0.39030	TTC		0.562	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		T	41002579	A	T	41002579	3	4	269	1	0	0	0	0	1	0	0	0	16999	72	3	5	1353	5	UNC5CL	6	41002579	Missense_Mutation	SNP	A	TCGA-B8-4153-01B-11D-1669-08	6901635	41002579	130112488	17	16212											
TREM2	54209	hgsc.bcm.edu;ucsc.edu	37	6	41126749	41126749	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:41126749delC	ENST00000373113.3	-	4	631	c.538delG	c.(538-540)gccfs	p.A180fs	TREM2_ENST00000338469.3_Intron|TREM2_ENST00000373122.4_Frame_Shift_Del_p.G193fs	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	180					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.A180T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGATGCAGGCCAGGAGGAGA	0.567																																																1	Substitution - Missense(1)	endometrium(1)											51	56	54					6																	41126749		2203	4300	6503	SO:0001589	frameshift_variant	54209			AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"Immunoglobulin superfamily / V-set domain containing"	17761	protein-coding gene	gene with protein product		605086	"triggering receptor expressed on myeloid cells 2a"			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.538delG	6.37:g.41126749delC	ENSP00000362205:p.Ala180fs		Q8N5H8|Q8WYN6	Frame_Shift_Del	DEL	ENST00000373113.3	37	CCDS4852.1																																																																																				0.567	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965		-	41126749	C	-	41126749	7	5	269	1	0	1	0	1	0	0	0	0	16476	739	26	0	162	0	TREM2	6	41126749	Frame_Shift_Del	DEL	C	TCGA-B8-4153-01B-11D-1669-08	124170	41126749	129988318	18	16213											
ABCC10	89845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43402469	43402469	+	Silent	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:43402469G>A	ENST00000372530.4	+	4	1706	c.1491G>A	c.(1489-1491)cgG>cgA	p.R497R	ABCC10_ENST00000443426.2_3'UTR|ABCC10_ENST00000244533.3_Silent_p.R454R	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	497	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R454R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGCGACTCCGGGTCATCAAAT	0.602																																																1	Substitution - coding silent(1)	kidney(1)											98	105	102					6																	43402469		2203	4300	6503	SO:0001819	synonymous_variant	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1491G>A	6.37:g.43402469G>A			Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	CCDS56430.1																																																																																				0.602	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		A	43402469	G	A	43402469	2	1	269	1	0	0	0	0	0	0	0	1	50	1219	43	2		2	ABCC10	6	43402469	Silent	SNP	G	TCGA-B8-4153-01B-11D-1669-08	2275720	43402469	127712598	19	16214											
ARID1B	57492	broad.mit.edu;hgsc.bcm.edu	37	6	157520041	157520041	+	Splice_Site	SNP	G	G	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:157520041G>C	ENST00000350026.5	+	16	4072	c.4071G>C	c.(4069-4071)ccG>ccC	p.P1357P	ARID1B_ENST00000275248.4_Splice_Site_p.P1352P|ARID1B_ENST00000367148.1_Splice_Site_p.P1410P|ARID1B_ENST00000346085.5_Splice_Site_p.P1370P	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1357					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P1352P(1)|p.P1370P(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CACAGCAGCCGGTGAGTTGGC	0.567																																																2	Substitution - coding silent(2)	kidney(2)											14	17	16					6																	157520041		2199	4292	6491	SO:0001630	splice_region_variant	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4071+1G>C	6.37:g.157520041G>C			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	CCDS5251.2																																																																																				0.567	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	Silent	C	157520041	G	C	157520041	5	2	269	1	0	0	0	0	0	0	1	0	914	1130	39	4	4176	4	ARID1B	6	157520041	Splice_Site	SNP	G	TCGA-B8-4153-01B-11D-1669-08	114117572	157520041	13595026	20	16215											
LPA	4018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160969596	160969596	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr6:160969596A>G	ENST00000316300.5	-	31	5113	c.5069T>C	c.(5068-5070)cTg>cCg	p.L1690P	LPA_ENST00000447678.1_Missense_Mutation_p.L1690P			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4198	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.L1690P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCATCGCGTCAGGTTGCAGTA	0.547																																																1	Substitution - Missense(1)	kidney(1)											88	95	93					6																	160969596		2203	4300	6503	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5069T>C	6.37:g.160969596A>G	ENSP00000321334:p.Leu1690Pro		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	a	14.06	2.423283	0.43020	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.70986	-0.53;-0.53	2.71	2.71	0.32032	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.80188	0.4577	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82631	-0.0362	9	0.87932	D	0	.	9.9734	0.41768	1.0:0.0:0.0:0.0	.	4198	P08519	APOA_HUMAN	P	1690	ENSP00000321334:L1690P;ENSP00000395608:L1690P	ENSP00000321334:L1690P	L	-	2	0	LPA	160889586	1.000000	0.71417	0.710000	0.30468	0.526000	0.34562	6.659000	0.74412	1.240000	0.43803	0.358000	0.22013	CTG		0.547	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		G	160969596	A	G	160969596	3	3	269	1	0	0	0	0	1	0	0	0	8905	188	7	3	1089	3	LPA	6	160969596	Missense_Mutation	SNP	A	TCGA-B8-4153-01B-11D-1669-08	3449555	160969596	10145471	21	16216											
VPS37A	137492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	17137538	17137538	+	Splice_Site	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr8:17137538G>T	ENST00000324849.4	+	7	1389	c.715G>T	c.(715-717)Gtg>Ttg	p.V239L	VPS37A_ENST00000521829.1_Splice_Site_p.V214L	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	239					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V239L(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		TGTTTCTAGTGTGTCACAACT	0.323																																																1	Substitution - Missense(1)	kidney(1)											75	75	75					8																	17137538		2203	4299	6502	SO:0001630	splice_region_variant	137492				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"hepatocellular carcinoma related protein 1"	609927	"vacuolar protein sorting 37A (yeast)", "polyglutamine binding protein 2"	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.714-1G>T	8.37:g.17137538G>T			Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	37	CCDS6001.1	.	.	.	.	.	.	.	.	.	.	G	5.503	0.277797	0.10403	.	.	ENSG00000155975	ENST00000324849;ENST00000521829;ENST00000521976	T;T;T	0.75938	-0.98;-0.98;-0.98	5.0	1.95	0.26073	Modifier of rudimentary, Modr (1);	0.548513	0.19321	N	0.117121	T	0.50480	0.1618	N	0.16266	0.395	0.80722	D	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.09377	0.001;0.003;0.004	T	0.25502	-1.0130	10	0.17832	T	0.49	-5.009	4.3479	0.11141	0.1983:0.0:0.4916:0.3101	.	16;214;239	B3KW95;Q8NEZ2-2;Q8NEZ2	.;.;VP37A_HUMAN	L	239;214;12	ENSP00000318629:V239L;ENSP00000429680:V214L;ENSP00000429858:V12L	ENSP00000318629:V239L	V	+	1	0	VPS37A	17181909	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.211000	0.32382	0.765000	0.33221	0.585000	0.79938	GTG		0.323	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415	Missense_Mutation	T	17137538	G	T	17137538	5	4	269	1	0	0	0	0	0	0	1	0	17210	1391	48	4	741	4	VPS37A	8	17137538	Splice_Site	SNP	G	TCGA-B8-4153-01B-11D-1669-08		17137538	129226484	22	16217											
ASAP1	50807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	131073178	131073179	+	Missense_Mutation	DNP	CC	CC	GG			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr8:131073178_131073179CC>GG	ENST00000518721.1	-	28	3065_3066	c.2838_2839GG>CC	c.(2836-2841)ctGGcc>ctCCcc	p.A947P	ASAP1_ENST00000357668.1_Missense_Mutation_p.A947P	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	947	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.L946>?(1)|p.L946L(1)|p.A947P(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGCTTGGGGGCCAGTTCTGTGG	0.574																																																3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2838_2839delinsGG	8.37:g.131073178_131073179delinsGG	ENSP00000429900:p.Ala947Pro		B2RNV3	Missense_Mutation|Silent	SNP	ENST00000518721.1	37	CCDS6362.1																																																																																				0.574	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		GG	131073179	CC	GG	131073178	3	3	269	1	0	0	0	0	1	0	0	0	1010	739	26	4	562	4	ASAP1	8	131073178	Missense_Mutation	DNP	CC	TCGA-B8-4153-01B-11D-1669-08	113935640	131073178	15290844	23	16218											
MTAP	4507	broad.mit.edu;ucsc.edu	37	9	21837965	21837965	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr9:21837965T>C	ENST00000460874.2	+	5	682	c.457T>C	c.(457-459)Tgc>Cgc	p.C153R	MTAP_ENST00000380172.4_Missense_Mutation_p.C136R|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Missense_Mutation_p.C136R					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)|p.C136R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		CAGAGGAGTGTGCCATATTCC	0.428																																																3	Whole gene deletion(2)|Substitution - Missense(1)	lung(2)|kidney(1)											267	268	268					9																	21837965		2203	4300	6503	SO:0001583	missense	4507			AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"S-methyl-5'-thioadenosine phosphorylase"	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.457T>C	9.37:g.21837965T>C	ENSP00000461932:p.Cys153Arg			Missense_Mutation	SNP	ENST00000460874.2	37		.	.	.	.	.	.	.	.	.	.	T	13.52	2.262836	0.39995	.	.	ENSG00000099810	ENST00000380172	D	0.85773	-2.03	5.54	5.54	0.83059	Nucleoside phosphorylase domain (1);	0.046669	0.85682	D	0.000000	D	0.90741	0.7094	M	0.63428	1.95	0.80722	D	1	D;P	0.89917	1.0;0.854	D;P	0.85130	0.997;0.628	D	0.90634	0.4569	10	0.46703	T	0.11	-13.3137	14.6795	0.69006	0.0:0.0:0.0:1.0	.	153;136	B4DUC8;Q13126	.;MTAP_HUMAN	R	136	ENSP00000369519:C136R	ENSP00000369519:C136R	C	+	1	0	MTAP	21827965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.164000	0.58190	2.108000	0.64289	0.533000	0.62120	TGC		0.428	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451		C	21837965	T	C	21837965	3	2	269	1	0	0	0	0	1	0	0	0	9913	1696	59	3	424	3	MTAP	9	21837965	Missense_Mutation	SNP	T	TCGA-B8-4153-01B-11D-1669-08		21837965	119375466	24	16219											
ALDH1A1	216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	75540461	75540461	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr9:75540461A>G	ENST00000297785.3	-	6	626	c.572T>C	c.(571-573)gTt>gCt	p.V191A	ALDH1A1_ENST00000376939.1_Missense_Mutation_p.V191A|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	191					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.V205A(1)|p.V191A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TGGTTTGACAACCACTGTGTT	0.423																																																2	Substitution - Missense(2)	kidney(2)											123	109	114					9																	75540461		2203	4300	6503	SO:0001583	missense	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.572T>C	9.37:g.75540461A>G	ENSP00000297785:p.Val191Ala		O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	A	31	5.101711	0.94245	.	.	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.63	5.63	0.86233	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.315970	0.27464	N	0.019245	T	0.55065	0.1897	H	0.94886	3.595	0.51233	D	0.999916	B;B	0.23937	0.094;0.092	B;B	0.42062	0.374;0.311	T	0.62497	-0.6842	10	0.87932	D	0	.	15.841	0.78845	1.0:0.0:0.0:0.0	.	112;191	B4DDF8;P00352	.;AL1A1_HUMAN	A	191;191;205;191;191	ENSP00000297785:V191A;ENSP00000366138:V191A;ENSP00000388026:V191A;ENSP00000401361:V191A	ENSP00000297785:V191A	V	-	2	0	ALDH1A1	74730281	0.978000	0.34361	0.177000	0.23020	0.974000	0.67602	8.903000	0.92573	2.146000	0.66826	0.459000	0.35465	GTT		0.423	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			G	75540461	A	G	75540461	3	3	269	1	0	0	0	0	1	0	0	0	490	43	2	3	965	3	ALDH1A1	9	75540461	Missense_Mutation	SNP	A	TCGA-B8-4153-01B-11D-1669-08	53702496	75540461	65672970	25	16220											
OMD	4958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95179200	95179200	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr9:95179200A>T	ENST00000375550.4	-	2	916	c.641T>A	c.(640-642)cTa>cAa	p.L214Q	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	214					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.L214Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GAGCTGCATTAGTTTTTCCAT	0.353			T	USP6	aneurysmal bone cysts																																		Dom	yes		9	9q22.31	4958	osteomodulin		M	1	Substitution - Missense(1)	kidney(1)											107	106	106					9																	95179200		2203	4300	6503	SO:0001583	missense	4958			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8134	protein-coding gene	gene with protein product	"osteoadherin proteoglycan"						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.641T>A	9.37:g.95179200A>T	ENSP00000364700:p.Leu214Gln		Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	a	18.90	3.722203	0.68959	.	.	ENSG00000127083	ENST00000375550	T	0.30981	1.51	5.41	5.41	0.78517	.	0.000000	0.47852	D	0.000202	T	0.71970	0.3403	H	0.98646	4.29	0.35242	D	0.77787	D	0.89917	1.0	D	0.87578	0.998	D	0.87720	0.2572	10	0.87932	D	0	-11.1146	15.7425	0.77910	1.0:0.0:0.0:0.0	.	214	Q99983	OMD_HUMAN	Q	214	ENSP00000364700:L214Q	ENSP00000364700:L214Q	L	-	2	0	OMD	94219021	1.000000	0.71417	0.106000	0.21319	0.982000	0.71751	8.958000	0.93099	2.178000	0.69098	0.477000	0.44152	CTA		0.353	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		T	95179200	A	T	95179200	3	4	269	1	0	0	0	0	1	0	0	0	10867	420	15	5	632	5	OMD	9	95179200	Missense_Mutation	SNP	A	TCGA-B8-4153-01B-11D-1669-08	19638739	95179200	46034231	26	16221											
PTCH1	5727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	98220440	98220440	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr9:98220440C>T	ENST00000331920.6	-	18	3322	c.3023G>A	c.(3022-3024)aGt>aAt	p.S1008N	PTCH1_ENST00000421141.1_Missense_Mutation_p.S857N|PTCH1_ENST00000430669.2_Missense_Mutation_p.S942N|PTCH1_ENST00000429896.2_Missense_Mutation_p.S857N|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1007N|PTCH1_ENST00000418258.1_Missense_Mutation_p.S857N|PTCH1_ENST00000437951.1_Missense_Mutation_p.S942N	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1008					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S1008N(2)|p.S1007N(2)|p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTTGGGGTAACTGGACAGCCC	0.562																																																5	Substitution - Missense(4)|Deletion - Frameshift(1)	kidney(4)|central_nervous_system(1)											88	77	81					9																	98220440		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3023G>A	9.37:g.98220440C>T	ENSP00000332353:p.Ser1008Asn		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	8.280	0.815289	0.16607	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.87	5.87	0.94306	.	0.078237	0.85682	D	0.000000	T	0.74160	0.3680	N	0.05031	-0.125	0.80722	D	1	B;B;B	0.30482	0.029;0.281;0.03	B;B;B	0.29524	0.063;0.103;0.071	T	0.70839	-0.4763	10	0.35671	T	0.21	-29.8289	20.5827	0.99408	0.0:1.0:0.0:0.0	.	942;1007;1008	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	N	1008;942;857;857;444;942;857;1007	ENSP00000332353:S1008N;ENSP00000389744:S942N;ENSP00000399981:S857N;ENSP00000396135:S857N;ENSP00000410287:S942N;ENSP00000414823:S857N;ENSP00000364423:S1007N	ENSP00000332353:S1008N	S	-	2	0	PTCH1	97260261	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.759000	0.62227	2.941000	0.99782	0.655000	0.94253	AGT		0.562	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98220440	C	T	98220440	3	4	269	1	0	0	0	0	1	0	0	0	12735	565	20	2	1344	2	PTCH1	9	98220440	Missense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08	3041240	98220440	42992991	27	16222											
CACNA1B	774	broad.mit.edu;hgsc.bcm.edu	37	9	140904474	140904474	+	Missense_Mutation	SNP	A	A	T	rs201912991		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr9:140904474A>T	ENST00000371372.1	+	17	2250	c.2105A>T	c.(2104-2106)aAt>aTt	p.N702I	CACNA1B_ENST00000371363.1_Missense_Mutation_p.N702I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.N703I|CACNA1B_ENST00000277550.3_5'Flank|CACNA1B_ENST00000371357.1_Missense_Mutation_p.N703I|CACNA1B_ENST00000277549.5_De_novo_Start_OutOfFrame|CACNA1B_ENST00000277551.2_Missense_Mutation_p.N702I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	702					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.N702I(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTCTGCTGAATGTCTTTCTG	0.602																																																1	Substitution - Missense(1)	kidney(1)											65	69	68					9																	140904474		2154	4269	6423	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2105A>T	9.37:g.140904474A>T	ENSP00000360423:p.Asn702Ile		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317961	0.60524	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.99298	-5.71;-5.71;-5.71;-5.71;-5.71	4.4	4.4	0.53042	.	0.107182	0.64402	D	0.000007	D	0.99661	0.9874	H	0.98754	4.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.97392	0.9990	10	0.87932	D	0	.	12.9033	0.58137	1.0:0.0:0.0:0.0	.	702;702	B1AQK4;B1AQK6	.;.	I	702;702;702;703;703	ENSP00000360423:N702I;ENSP00000277551:N702I;ENSP00000360414:N702I;ENSP00000360408:N703I;ENSP00000360406:N703I	ENSP00000277551:N702I	N	+	2	0	CACNA1B	140024295	1.000000	0.71417	0.903000	0.35520	0.843000	0.47879	8.683000	0.91236	1.751000	0.51876	0.379000	0.24179	AAT		0.602	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		T	140904474	A	T	140904474	3	4	269	1	0	0	0	0	1	0	0	0	2541	101	4	5	2171	5	CACNA1B	9	140904474	Missense_Mutation	SNP	A	TCGA-B8-4153-01B-11D-1669-08	42684034	140904474	308957	28	16223											
HERC4	26091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	69797906	69797908	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr10:69797906_69797908delTCT	ENST00000395198.3	-	5	652_654	c.405_407delAGA	c.(403-408)tcagat>tct	p.D136del	HERC4_ENST00000373700.4_In_Frame_Del_p.D136del|HERC4_ENST00000395187.2_In_Frame_Del_p.82_83QI>L|HERC4_ENST00000412272.2_In_Frame_Del_p.D136del|HERC4_ENST00000277817.6_In_Frame_Del_p.D26del	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	136					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AATCTGGATATCTGACAAACTTT	0.276																																																0																																										SO:0001651	inframe_deletion	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.405_407delAGA	10.37:g.69797906_69797908delTCT	ENSP00000378624:p.Asp136del		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	In_Frame_Del	DEL	ENST00000395198.3	37	CCDS41533.1																																																																																				0.276	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		-	69797908	TCT	-	69797906	7	5	269	1	0	1	0	1	0	0	0	0	7062	1435	50	0	2854	0	HERC4	10	69797906	In_Frame_Del	DEL	TCT	TCGA-B8-4153-01B-11D-1669-08		69797906	65736841	29	16224											
SAMD8	142891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	76928376	76928376	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr10:76928376C>T	ENST00000542569.1	+	4	855	c.752C>T	c.(751-753)tCc>tTc	p.S251F	SAMD8_ENST00000372690.3_Missense_Mutation_p.S314F|SAMD8_ENST00000372687.4_Missense_Mutation_p.S251F	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	251					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.S251F(1)|p.S314F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTTGTGACCTCCCTCTCCGTG	0.463																																																2	Substitution - Missense(2)	kidney(2)											291	264	273					10																	76928376		2203	4300	6503	SO:0001583	missense	142891			AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"Sterile alpha motif (SAM) domain containing"	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.752C>T	10.37:g.76928376C>T	ENSP00000438042:p.Ser251Phe		Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324741	0.95708	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97411	0.9153	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.96716	0.9529	10	0.39692	T	0.17	-13.7453	19.5724	0.95427	0.0:1.0:0.0:0.0	.	251;251	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	F	251;314;251;251	ENSP00000391799:S251F;ENSP00000361775:S314F;ENSP00000438042:S251F;ENSP00000361772:S251F	ENSP00000361772:S251F	S	+	2	0	SAMD8	76598382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.624000	0.88883	0.650000	0.86243	TCC		0.463	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		T	76928376	C	T	76928376	3	4	269	1	0	0	0	0	1	0	0	0	13831	855	30	2	762	2	SAMD8	10	76928376	Missense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08	7130470	76928376	58606371	30	16225											
PDCD11	22984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105166476	105166476	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr10:105166476G>A	ENST00000369797.3	+	7	893	c.799G>A	c.(799-801)Gct>Act	p.A267T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	267					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.A267T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TACGGCCATTGCTACTGAACA	0.453																																																1	Substitution - Missense(1)	kidney(1)											122	112	115					10																	105166476		2203	4300	6503	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.799G>A	10.37:g.105166476G>A	ENSP00000358812:p.Ala267Thr		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139836	0.77775	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.18174	2.23	4.82	4.82	0.62117	Nucleic acid-binding, OB-fold-like (2);	0.219697	0.45867	D	0.000334	T	0.38081	0.1027	M	0.62723	1.935	0.50171	D	0.999853	D	0.69078	0.997	D	0.68192	0.956	T	0.05209	-1.0899	10	0.24483	T	0.36	-4.3392	18.2673	0.90056	0.0:0.0:1.0:0.0	.	267	Q14690	RRP5_HUMAN	T	267	ENSP00000358812:A267T	ENSP00000358812:A267T	A	+	1	0	PDCD11	105156466	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.340000	0.65958	2.400000	0.81607	0.462000	0.41574	GCT		0.453	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			A	105166476	G	A	105166476	3	1	269	1	0	0	0	0	1	0	0	0	11619	1319	46	2	821	2	PDCD11	10	105166476	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08	28238100	105166476	30368271	31	16226											
MUC5B	727897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1258216	1258216	+	Missense_Mutation	SNP	G	G	A	rs377460516		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr11:1258216G>A	ENST00000529681.1	+	25	3177	c.3119G>A	c.(3118-3120)cGt>cAt	p.R1040H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R1043H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1040	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.R1043H(1)|p.R1040H(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTTGCCACGCGTAGCCGGTCC	0.677																																																2	Substitution - Missense(2)	kidney(2)						G	HIS/ARG	1,4269		0,1,2134	34	47	42		3119	4.4	0.9	11		42	0,8456		0,0,4228	no	missense	MUC5B	NM_002458.2	29	0,1,6362	AA,AG,GG		0.0,0.0234,0.0079	probably-damaging	1040/5763	1258216	1,12725	2135	4228	6363	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3119G>A	11.37:g.1258216G>A	ENSP00000436812:p.Arg1040His		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	8.727	0.915788	0.17907	2.34E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.60424	0.19;0.19	4.38	4.38	0.52667	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.77212	0.4097	M	0.85462	2.755	0.09310	N	1	D;D;D	0.76494	0.973;0.999;0.999	P;P;P	0.61328	0.659;0.887;0.887	T	0.71377	-0.4611	9	0.87932	D	0	.	16.9469	0.86232	0.0:0.0:1.0:0.0	.	1040;1733;1043	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	H	1040;1043;1041;1110	ENSP00000436812:R1040H;ENSP00000415793:R1043H	ENSP00000343037:R1041H	R	+	2	0	MUC5B	1214792	0.686000	0.27661	0.935000	0.37517	0.002000	0.02628	3.944000	0.56629	1.974000	0.57490	0.462000	0.41574	CGT		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1258216	G	A	1258216	3	1	269	1	0	0	0	0	1	0	0	0	9981	1145	40	1	3226	1	MUC5B	11	1258216	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08		1258216	133748300	32	16227											
PRB2	653247	broad.mit.edu	37	12	11546588	11546588	+	Missense_Mutation	SNP	G	G	T	rs373613020		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:11546588G>T	ENST00000389362.4	-	3	459	c.424C>A	c.(424-426)Cca>Aca	p.P142T	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	142	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P142T(1)|p.P121T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.597																																																2	Substitution - Missense(2)	kidney(2)											207	190	196					12																	11546588		2199	4294	6493	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.424C>A	12.37:g.11546588G>T	ENSP00000374013:p.Pro142Thr		O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	1.975	-0.435515	0.04669	.	.	ENSG00000121335	ENST00000389362	T	0.06933	3.24	1.42	0.324	0.15898	.	0.000000	0.34411	U	0.003992	T	0.09686	0.0238	M	0.78456	2.415	0.09310	N	1	B	0.20052	0.041	B	0.11329	0.006	T	0.29640	-1.0005	10	0.27082	T	0.32	.	6.7286	0.23371	0.0:0.0:0.7195:0.2805	.	142	P02812	PRB2_HUMAN	T	142	ENSP00000374013:P142T	ENSP00000374013:P142T	P	-	1	0	PRB2	11437855	0.024000	0.19004	0.001000	0.08648	0.177000	0.22998	0.083000	0.14871	-0.154000	0.11118	0.186000	0.17326	CCA		0.597	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		T	11546588	G	T	11546588	3	4	269	1	0	0	0	0	1	0	0	0	12448	1261	44	4	830	4	PRB2	12	11546588	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08		11546588	122305307	33	16228											
BICD1	636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32369298	32369298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:32369298G>T	ENST00000281474.5	+	2	434	c.331G>T	c.(331-333)Gag>Tag	p.E111*	BICD1_ENST00000548411.1_Nonsense_Mutation_p.E111*	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	111					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.E111*(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GAAGATCTTGGAGATGCAGAA	0.537																																																1	Substitution - Nonsense(1)	kidney(1)											109	101	104					12																	32369298		2203	4300	6503	SO:0001587	stop_gained	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.331G>T	12.37:g.32369298G>T	ENSP00000281474:p.Glu111*		A8K2C3|F8W113|O43892|O43893	Nonsense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	38	6.949096	0.97956	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	.	.	.	5.55	5.55	0.83447	.	0.131649	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.5182	0.95174	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	ENSP00000281474:E111X	E	+	1	0	BICD1	32260565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.593000	0.82686	2.603000	0.88011	0.655000	0.94253	GAG		0.537	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		T	32369298	G	T	32369298	4	4	269	1	0	0	0	0	0	1	0	0	1428	1175	41	4	337	4	BICD1	12	32369298	Nonsense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08	20822710	32369298	101482597	34	16229											
GALNT6	11226	hgsc.bcm.edu;ucsc.edu	37	12	51751134	51751134	+	Splice_Site	SNP	T	T	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:51751134T>C	ENST00000543196.2	-	9	1806	c.1601A>G	c.(1600-1602)cAg>cGg	p.Q534R	GALNT6_ENST00000356317.3_Splice_Site_p.Q534R			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	534	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGCATACCTGGTTGCCGCC	0.587																																																0													90	74	79					12																	51751134		2203	4300	6503	SO:0001630	splice_region_variant	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1602+1A>G	12.37:g.51751134T>C			Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879977	0.72294	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.63580	-0.05;-0.05	3.3	3.3	0.37823	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.81819	0.4903	M	0.93638	3.44	0.53005	D	0.999966	D	0.89917	1.0	D	0.91635	0.999	D	0.85039	0.0922	10	0.87932	D	0	.	10.0251	0.42066	0.0:0.0:0.0:1.0	.	534	Q8NCL4	GALT6_HUMAN	R	534;534;515	ENSP00000444171:Q534R;ENSP00000348668:Q534R	ENSP00000348668:Q534R	Q	-	2	0	GALNT6	50037401	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	7.802000	0.85969	1.757000	0.51966	0.459000	0.35465	CAG		0.587	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210	Missense_Mutation	C	51751134	T	C	51751134	5	2	269	1	0	0	0	0	0	0	1	0	6219	1594	55	3	279	3	GALNT6	12	51751134	Splice_Site	SNP	T	TCGA-B8-4153-01B-11D-1669-08	19381836	51751134	82100761	35	16230											
ORMDL2	29095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56213245	56213245	+	Silent	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:56213245C>T	ENST00000243045.5	+	3	489	c.294C>T	c.(292-294)tcC>tcT	p.S98S	SARNP_ENST00000552080.1_5'Flank|SARNP_ENST00000336133.3_5'Flank|SARNP_ENST00000444631.2_5'Flank|ORMDL2_ENST00000552672.1_Silent_p.S64S|ORMDL2_ENST00000548974.1_Silent_p.S98S|ORMDL2_ENST00000550836.1_Silent_p.S10S|RP11-762I7.5_ENST00000552719.1_Intron|RP11-762I7.5_ENST00000546837.1_Intron	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORMDL sphingolipid biosynthesis regulator 2	98					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S98S(1)		kidney(1)|lung(3)	4						TTACCTCTTCCCGCAAGTTCC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											227	190	203					12																	56213245		2203	4300	6503	SO:0001819	synonymous_variant	29095			AF395707	CCDS8893.1	12q13.2	2014-06-16	2014-06-16			ENSG00000123353			16037	protein-coding gene	gene with protein product		610074	"ORM1 (S. cerevisiae)-like 2", "ORM1-like 2 (S. cerevisiae)"			12093374, 23066021	Standard	NM_014182		Approved	HSPC160, adoplin-2, MST095, MSTP095	uc001shw.1	Q53FV1		ENST00000243045.5:c.294C>T	12.37:g.56213245C>T			B2RA58|Q7Z4E5|Q8NFX0|Q9P004	Silent	SNP	ENST00000243045.5	37	CCDS8893.1																																																																																				0.512	ORMDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407934.1	NM_014182		T	56213245	C	T	56213245	2	4	269	1	0	0	0	0	0	0	0	1	11272	610	22	2		2	ORMDL2	12	56213245	Silent	SNP	C	TCGA-B8-4153-01B-11D-1669-08	4462111	56213245	77638650	36	16231											
PTPRB	5787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	70983898	70983898	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:70983898A>C	ENST00000261266.5	-	6	1271	c.1242T>G	c.(1240-1242)aaT>aaG	p.N414K	PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000334414.6_Missense_Mutation_p.N632K|PTPRB_ENST00000551525.1_Missense_Mutation_p.N631K|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000550358.1_Missense_Mutation_p.N632K|PTPRB_ENST00000538708.1_Missense_Mutation_p.N414K|PTPRB_ENST00000538174.2_5'UTR	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	414	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.N414K(2)|p.N632K(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACAGAATCATTGAAGAGTA	0.517											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				3	Substitution - Missense(3)	kidney(3)											134	135	135					12																	70983898		2009	4190	6199	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1242T>G	12.37:g.70983898A>C	ENSP00000261266:p.Asn414Lys	1126	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.871210	0.51695	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	5.63	-2.12	0.07165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.092595	0.64402	D	0.000001	T	0.63721	0.2535	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.996;0.999;0.992;0.999;0.984	D;D;D;D;D;D	0.74348	0.979;0.969;0.982;0.951;0.983;0.951	T	0.69591	-0.5104	10	0.07482	T	0.82	.	11.9995	0.53222	0.3714:0.0:0.6286:0.0	.	414;511;631;632;414;632	F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	K	632;632;632;414;414;631;511	ENSP00000334928:N632K;ENSP00000448058:N632K;ENSP00000438927:N414K;ENSP00000261266:N414K;ENSP00000448349:N631K;ENSP00000446982:N511K	ENSP00000261266:N414K	N	-	3	2	PTPRB	69270165	0.551000	0.26497	0.650000	0.29550	0.417000	0.31264	0.136000	0.15974	-0.142000	0.11354	-0.256000	0.11100	AAT		0.517	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			C	70983898	A	C	70983898	3	2	269	1	0	0	0	0	1	0	0	0	12802	214	8	5	4859	5	PTPRB	12	70983898	Missense_Mutation	SNP	A	TCGA-B8-4153-01B-11D-1669-08	14770653	70983898	62867997	37	16232											
GALNT4	8693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	89917616	89917616	+	Silent	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:89917616C>T	ENST00000529983.2	-	1	967	c.711G>A	c.(709-711)ctG>ctA	p.L237L	RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|GALNT4_ENST00000413530.1_Intron|POC1B-GALNT4_ENST00000548729.1_Silent_p.L234L|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	237	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L237L(1)		endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AAAGCGGTTCCAGCCAACCGG	0.483																																																1	Substitution - coding silent(1)	kidney(1)											72	74	73					12																	89917616		1934	4140	6074	SO:0001819	synonymous_variant	100528030			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.711G>A	12.37:g.89917616C>T			B2R775|B4DMX6|O00208	Silent	SNP	ENST00000529983.2	37	CCDS53817.1																																																																																				0.483	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		T	89917616	C	T	89917616	2	4	269	1	0	0	0	0	0	0	0	1	6217	581	21	2		2	GALNT4	12	89917616	Silent	SNP	C	TCGA-B8-4153-01B-11D-1669-08	18933718	89917616	43934279	38	16233											
FGD6	55785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	95546763	95546763	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr12:95546763C>A	ENST00000343958.4	-	4	2816	c.2593G>T	c.(2593-2595)Gat>Tat	p.D865Y	FGD6_ENST00000546711.1_Missense_Mutation_p.D865Y|FGD6_ENST00000549499.1_Missense_Mutation_p.D865Y	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	865					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.D865Y(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATTCCATTATCTTCATCCTGT	0.353																																																1	Substitution - Missense(1)	kidney(1)											132	126	128					12																	95546763		2203	4300	6503	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2593G>T	12.37:g.95546763C>A	ENSP00000344446:p.Asp865Tyr		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854897	0.32791	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.28666	1.6;1.6;1.6	6.04	5.15	0.70609	Dbl homology (DH) domain (2);	0.146451	0.32736	N	0.005705	T	0.27169	0.0666	N	0.14661	0.345	0.33357	D	0.571834	D	0.56521	0.976	P	0.51016	0.656	T	0.43442	-0.9391	10	0.72032	D	0.01	-14.8851	11.2217	0.48860	0.0:0.8614:0.0:0.1386	.	865	Q6ZV73	FGD6_HUMAN	Y	865	ENSP00000344446:D865Y;ENSP00000450342:D865Y;ENSP00000449005:D865Y	ENSP00000344446:D865Y	D	-	1	0	FGD6	94070894	0.995000	0.38212	1.000000	0.80357	0.968000	0.65278	2.102000	0.41796	1.574000	0.49760	0.561000	0.74099	GAT		0.353	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		A	95546763	C	A	95546763	3	1	269	1	0	0	0	0	1	0	0	0	5839	913	32	4	1771	4	FGD6	12	95546763	Missense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08	5629147	95546763	38305132	39	16234											
DNAJC3	5611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	96438228	96438228	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr13:96438228G>A	ENST00000602402.1	+	10	1228	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	DNAJC3_ENST00000376795.6_Missense_Mutation_p.E320K	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	371					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)	p.E371K(1)		NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GGAACACAATGAAAATGATCA	0.318																																																1	Substitution - Missense(1)	kidney(1)											52	52	52					13																	96438228		2203	4300	6503	SO:0001583	missense	5611			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1111G>A	13.37:g.96438228G>A	ENSP00000473631:p.Glu371Lys		Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423379	0.83559	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.52	5.52	0.82312	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000002	T	0.53965	0.1829	N	0.25992	0.78	0.80722	D	1	B;B	0.22346	0.068;0.068	B;B	0.24974	0.057;0.057	T	0.46428	-0.9192	9	0.36615	T	0.2	-3.2291	19.8034	0.96518	0.0:0.0:1.0:0.0	.	371;371	A8KA82;Q13217	.;DNJC3_HUMAN	K	371	.	ENSP00000365991:E371K	E	+	1	0	DNAJC3	95236229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.097000	0.94193	2.760000	0.94817	0.655000	0.94253	GAA		0.318	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			A	96438228	G	A	96438228	3	1	269	1	0	0	0	0	1	0	0	0	4649	1291	45	2	1149	2	DNAJC3	13	96438228	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08		96438228	18731650	40	16235											
CMA1	1215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24975760	24975760	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr14:24975760G>C	ENST00000250378.3	-	3	289	c.260C>G	c.(259-261)aCa>aGa	p.T87R	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_5'UTR	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	87	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.T87R(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CTTCTGCCATGTGTCTTCTTC	0.438																																																1	Substitution - Missense(1)	kidney(1)											326	287	300					14																	24975760		2203	4300	6503	SO:0001583	missense	1215				CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.260C>G	14.37:g.24975760G>C	ENSP00000250378:p.Thr87Arg		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590225	0.66105	.	.	ENSG00000092009	ENST00000250378	D	0.89050	-2.46	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000019	D	0.90297	0.6965	L	0.28776	0.89	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	D	0.90895	0.4764	10	0.87932	D	0	.	14.8222	0.70082	0.0:0.0:1.0:0.0	.	87	P23946	CMA1_HUMAN	R	87	ENSP00000250378:T87R	ENSP00000250378:T87R	T	-	2	0	CMA1	24045600	0.195000	0.23338	0.101000	0.21167	0.015000	0.08874	2.025000	0.41059	2.880000	0.98712	0.655000	0.94253	ACA		0.438	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			C	24975760	G	C	24975760	3	2	269	1	0	0	0	0	1	0	0	0	3576	1377	48	4	495	4	CMA1	14	24975760	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08		24975760	82373780	41	16236											
SCFD1	23256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	31122776	31122776	+	Silent	SNP	A	A	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr14:31122776A>T	ENST00000458591.2	+	10	1064	c.837A>T	c.(835-837)gcA>gcT	p.A279A	SCFD1_ENST00000541123.1_Silent_p.A94A|SCFD1_ENST00000421551.3_Silent_p.A220A|SCFD1_ENST00000544052.2_Silent_p.A212A|SCFD1_ENST00000396629.2_Silent_p.A187A	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	279					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)	p.A279A(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CATATCAAGCATTGGTGCACG	0.348																																																1	Substitution - coding silent(1)	kidney(1)											133	126	128					14																	31122776		2203	4300	6503	SO:0001819	synonymous_variant	23256			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.837A>T	14.37:g.31122776A>T			A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	ENST00000458591.2	37	CCDS9639.1																																																																																				0.348	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		T	31122776	A	T	31122776	2	4	269	1	0	0	0	0	0	0	0	1	13895	204	8	5		5	SCFD1	14	31122776	Silent	SNP	A	TCGA-B8-4153-01B-11D-1669-08	6147016	31122776	76226764	42	16237											
MAN2C1	4123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75654746	75654746	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr15:75654746G>A	ENST00000267978.5	-	8	992	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	MAN2C1_ENST00000563622.1_Missense_Mutation_p.R217C|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000565683.1_Missense_Mutation_p.R316C|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R316C	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	316					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.R316C(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TCCTGGATGCGGGAGTACAGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											46	42	43					15																	75654746		2197	4293	6490	SO:0001583	missense	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.946C>T	15.37:g.75654746G>A	ENSP00000267978:p.Arg316Cys		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	G	9.572	1.121182	0.20877	.	.	ENSG00000140400	ENST00000267978	T	0.80214	-1.35	5.41	4.5	0.54988	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.627245	0.16862	N	0.196477	T	0.76407	0.3983	L	0.46947	1.48	0.25480	N	0.987744	P;B;B	0.43352	0.804;0.031;0.03	B;B;B	0.40506	0.331;0.013;0.024	T	0.70153	-0.4950	10	0.87932	D	0	-12.2593	13.2867	0.60247	0.0765:0.0:0.9234:0.0	.	98;316;316	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	C	316	ENSP00000267978:R316C	ENSP00000267978:R316C	R	-	1	0	MAN2C1	73441799	0.712000	0.27916	0.221000	0.23827	0.050000	0.14768	2.902000	0.48703	1.293000	0.44690	0.556000	0.70494	CGC		0.627	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			A	75654746	G	A	75654746	3	1	269	1	0	0	0	0	1	0	0	0	9220	1116	39	1	2252	1	MAN2C1	15	75654746	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08		75654746	26876646	43	16238											
SALL1	6299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	51171323	51171323	+	Silent	SNP	T	T	C			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr16:51171323T>C	ENST00000251020.4	-	3	3708	c.3675A>G	c.(3673-3675)tcA>tcG	p.S1225S	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Silent_p.S1128S|SALL1_ENST00000541611.1_Silent_p.S48S	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1225					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1225S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCCACTTCCTGATCTTGCCG	0.562																																					GBM(103;1352 1446 1855 4775 8890)											1	Substitution - coding silent(1)	kidney(1)											62	57	58					16																	51171323		2198	4300	6498	SO:0001819	synonymous_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3675A>G	16.37:g.51171323T>C			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.562	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		C	51171323	T	C	51171323	2	2	269	1	0	0	0	0	0	0	0	1	13816	1567	55	3		3	SALL1	16	51171323	Silent	SNP	T	TCGA-B8-4153-01B-11D-1669-08		51171323	39183430	44	16239											
CHD9	80205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53320220	53320220	+	Silent	SNP	T	T	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr16:53320220T>G	ENST00000398510.3	+	25	5241	c.5154T>G	c.(5152-5154)gtT>gtG	p.V1718V	CHD9_ENST00000564845.1_Silent_p.V1718V|CHD9_ENST00000566029.1_Silent_p.V1718V|CHD9_ENST00000447540.1_Silent_p.V1718V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1718					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.V1718V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGAAAGCAGTTGCTGCTGAAC	0.363																																																1	Substitution - coding silent(1)	kidney(1)											90	89	90					16																	53320220		1889	4118	6007	SO:0001819	synonymous_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5154T>G	16.37:g.53320220T>G			B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																					0.363	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		G	53320220	T	G	53320220	2	3	269	1	0	0	0	0	0	0	0	1	3334	1799	63	5		5	CHD9	16	53320220	Silent	SNP	T	TCGA-B8-4153-01B-11D-1669-08	2148897	53320220	37034533	45	16240											
CBFA2T3	863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88958664	88958664	+	Silent	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr16:88958664C>T	ENST00000268679.4	-	4	1005	c.609G>A	c.(607-609)gtG>gtA	p.V203V	CBFA2T3_ENST00000448839.1_Silent_p.V127V|CBFA2T3_ENST00000436887.2_Silent_p.V178V|CBFA2T3_ENST00000327483.5_Silent_p.V117V|CBFA2T3_ENST00000360302.2_Silent_p.V117V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	203	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V203V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCAGGCCCAGCACCAGTGTGC	0.627			T	RUNX1	AML																																		Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	1	Substitution - coding silent(1)	kidney(1)											41	43	42					16																	88958664		2198	4298	6496	SO:0001819	synonymous_variant	863			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.609G>A	16.37:g.88958664C>T			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	ENST00000268679.4	37	CCDS10972.1																																																																																				0.627	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		T	88958664	C	T	88958664	2	4	269	1	0	0	0	0	0	0	0	1	2700	697	25	2		2	CBFA2T3	16	88958664	Silent	SNP	C	TCGA-B8-4153-01B-11D-1669-08	35638444	88958664	1396089	46	16241											
MAP3K3	4215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61762880	61762880	+	Silent	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr17:61762880C>T	ENST00000361733.3	+	8	960	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	MAP3K3_ENST00000584573.1_Silent_p.L245L|MAP3K3_ENST00000577395.1_Silent_p.L214L|MAP3K3_ENST00000579585.1_Silent_p.L245L|MAP3K3_ENST00000361357.3_Silent_p.L245L	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	214					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)	p.L214L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTTACAGATGCTGGATCCCCT	0.537																																																1	Substitution - coding silent(1)	kidney(1)											113	92	99					17																	61762880		2203	4300	6503	SO:0001819	synonymous_variant	4215			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.640C>T	17.37:g.61762880C>T			B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	CCDS32702.1																																																																																				0.537	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		T	61762880	C	T	61762880	2	4	269	1	0	0	0	0	0	0	0	1	9253	796	28	2		2	MAP3K3	17	61762880	Silent	SNP	C	TCGA-B8-4153-01B-11D-1669-08		61762880	19432330	47	16242											
MC4R	4160	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	58039328	58039328	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr18:58039328G>T	ENST00000299766.3	-	1	673	c.255C>A	c.(253-255)agC>agA	p.S85R		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	85					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)	p.S85R(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CCACAGCCAAGCTGCAGATGA	0.433																																																1	Substitution - Missense(1)	kidney(1)											100	97	98					18																	58039328		2203	4300	6503	SO:0001583	missense	4160			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.255C>A	18.37:g.58039328G>T	ENSP00000299766:p.Ser85Arg		B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797177	0.70567	.	.	ENSG00000166603	ENST00000299766	T	0.03035	4.07	5.56	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50676	-0.8800	10	0.62326	D	0.03	.	12.903	0.58135	0.0804:0.0:0.9196:0.0	.	85	P32245	MC4R_HUMAN	R	85	ENSP00000299766:S85R	ENSP00000299766:S85R	S	-	3	2	MC4R	56190308	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.048000	0.57390	1.457000	0.47850	0.655000	0.94253	AGC		0.433	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		T	58039328	G	T	58039328	3	4	269	1	0	0	0	0	1	0	0	0	9368	962	34	4	747	4	MC4R	18	58039328	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08		58039328	20037920	48	16243											
RTTN	25914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	67872495	67872495	+	Nonsense_Mutation	SNP	C	C	A	rs200495808		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr18:67872495C>A	ENST00000255674.6	-	2	374	c.88G>T	c.(88-90)Gag>Tag	p.E30*	RTTN_ENST00000454359.1_Nonsense_Mutation_p.E30*|RTTN_ENST00000437017.1_Nonsense_Mutation_p.E30*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	30					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E30*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAGTTGTGCTCAATCTTGCAG	0.463																																																1	Substitution - Nonsense(1)	kidney(1)											103	102	103					18																	67872495		1937	4133	6070	SO:0001587	stop_gained	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.88G>T	18.37:g.67872495C>A	ENSP00000255674:p.Glu30*		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	39	7.652274	0.98412	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	.	.	.	5.48	5.48	0.80851	.	0.141712	0.46145	D	0.000316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.387	0.94560	0.0:1.0:0.0:0.0	.	.	.	.	X	30	.	ENSP00000255674:E30X	E	-	1	0	RTTN	66023475	1.000000	0.71417	0.833000	0.33012	0.989000	0.77384	5.810000	0.69179	2.572000	0.86782	0.655000	0.94253	GAG		0.463	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		A	67872495	C	A	67872495	4	1	269	1	0	0	0	0	0	1	0	0	13743	835	29	4	6784	4	RTTN	18	67872495	Nonsense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08	9833167	67872495	10204753	49	16244											
CLEC4M	10332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7833849	7833849	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:7833849C>T	ENST00000327325.5	+	7	1293	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P341L|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P325L|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P370L|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P256L|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P380L|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P325L	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	392					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)	p.P392L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGCAAAAAGCCCGCAGCCTGC	0.498																																																1	Substitution - Missense(1)	kidney(1)											168	135	146					19																	7833849		2203	4300	6503	SO:0001583	missense	10332			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	13523	protein-coding gene	gene with protein product		605872	"CD299 antigen"	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1175C>T	19.37:g.7833849C>T	ENSP00000316228:p.Pro392Leu		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625183	0.28889	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	2.12	1.04	0.20106	C-type lectin fold (1);C-type lectin-like (1);	.	.	.	.	T	0.19248	0.0462	L	0.28649	0.875	0.09310	N	1	B;P;P;P;B;D	0.60160	0.399;0.731;0.954;0.805;0.414;0.987	B;B;B;B;B;P	0.57776	0.058;0.215;0.359;0.344;0.016;0.827	T	0.12528	-1.0544	9	0.39692	T	0.17	.	4.767	0.13137	0.0:0.8092:0.0:0.1908	.	341;325;392;380;369;256	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	L	392;380;370;341;325	ENSP00000316228:P392L;ENSP00000377680:P380L;ENSP00000248228:P370L;ENSP00000335228:P341L;ENSP00000351954:P325L	ENSP00000248228:P370L	P	+	2	0	CLEC4M	7739849	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.594000	0.24014	0.448000	0.26722	0.306000	0.20318	CCC		0.498	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		T	7833849	C	T	7833849	3	4	269	1	0	0	0	0	1	0	0	0	3520	623	22	2	1222	2	CLEC4M	19	7833849	Missense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08		7833849	51295134	50	16245											
AKAP8L	26993	hgsc.bcm.edu;ucsc.edu	37	19	15511126	15511126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:15511126delC	ENST00000397410.5	-	8	1158	c.1028delG	c.(1027-1029)ggcfs	p.G343fs	AKAP8L_ENST00000595465.2_Frame_Shift_Del_p.G282fs|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	343						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						ATCCTCTTTGCCTTCTTCTCT	0.498																																																0													111	125	120					19																	15511126		1937	4144	6081	SO:0001589	frameshift_variant	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1028delG	19.37:g.15511126delC	ENSP00000380557:p.Gly343fs		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Frame_Shift_Del	DEL	ENST00000397410.5	37	CCDS46005.1																																																																																				0.498	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		-	15511126	C	-	15511126	7	5	269	1	0	1	0	1	0	0	0	0	458	739	26	0	940	0	AKAP8L	19	15511126	Frame_Shift_Del	DEL	C	TCGA-B8-4153-01B-11D-1669-08	7677277	15511126	43617857	51	16246											
WDR62	284403	broad.mit.edu;hgsc.bcm.edu	37	19	36574074	36574074	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:36574074G>A	ENST00000270301.7	+	11	1481	c.1481G>A	c.(1480-1482)gGg>gAg	p.G494E	WDR62_ENST00000401500.2_Missense_Mutation_p.G494E			O43379	WDR62_HUMAN	WD repeat domain 62	494					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.G494E(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGAAAGCCGGGGTGCGGGTC	0.592																																																1	Substitution - Missense(1)	kidney(1)											52	47	49					19																	36574074		2203	4300	6503	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1481G>A	19.37:g.36574074G>A	ENSP00000270301:p.Gly494Glu		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206318	0.95033	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.62941	1.05;-0.01	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	L	0.37750	1.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73920	-0.3830	10	0.66056	D	0.02	-39.7582	17.3615	0.87351	0.0:0.0:1.0:0.0	.	494;494	O43379-4;O43379	.;WDR62_HUMAN	E	494	ENSP00000384792:G494E;ENSP00000270301:G494E	ENSP00000270301:G494E	G	+	2	0	WDR62	41265914	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.235000	0.95353	2.709000	0.92574	0.655000	0.94253	GGG		0.592	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		A	36574074	G	A	36574074	3	1	269	1	0	0	0	0	1	0	0	0	17318	1232	43	2	1523	2	WDR62	19	36574074	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08	21062948	36574074	22554909	52	16247											
MAP3K10	4294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40698354	40698354	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:40698354C>A	ENST00000253055.3	+	1	704	c.416C>A	c.(415-417)gCg>gAg	p.A139E	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.A139E(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCAGTGACAGCGGAGCAGGTG	0.667																																																1	Substitution - Missense(1)	kidney(1)											34	41	38					19																	40698354		2203	4300	6503	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.416C>A	19.37:g.40698354C>A	ENSP00000253055:p.Ala139Glu		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982629	0.53827	.	.	ENSG00000130758	ENST00000253055	D	0.82255	-1.59	4.3	3.25	0.37280	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	N	0.17838	0.53	0.44085	D	0.996847	P	0.42584	0.784	P	0.46796	0.527	T	0.71873	-0.4461	10	0.30078	T	0.28	.	11.8257	0.52265	0.0:0.8214:0.1786:0.0	.	139	Q02779	M3K10_HUMAN	E	139	ENSP00000253055:A139E	ENSP00000253055:A139E	A	+	2	0	MAP3K10	45390194	0.962000	0.33011	0.982000	0.44146	0.697000	0.40408	2.972000	0.49256	1.013000	0.39391	-0.175000	0.13238	GCG		0.667	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		A	40698354	C	A	40698354	3	1	269	1	0	0	0	0	1	0	0	0	9246	768	27	4	418	4	MAP3K10	19	40698354	Missense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08	4124280	40698354	18430629	53	16248											
CYP2A13	1553	broad.mit.edu;hgsc.bcm.edu	37	19	41594486	41594486	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:41594486C>G	ENST00000330436.3	+	1	110	c.110C>G	c.(109-111)cCc>cGc	p.P37R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	37					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.P37R(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CCTCCGGGACCCACCCCATTG	0.582																																																1	Substitution - Missense(1)	kidney(1)											88	78	81					19																	41594486		2203	4300	6503	SO:0001583	missense	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.110C>G	19.37:g.41594486C>G	ENSP00000332679:p.Pro37Arg		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939600	0.52972	.	.	ENSG00000197838	ENST00000330436	T	0.02158	4.42	3.33	3.33	0.38152	.	0.000000	0.85682	U	0.000000	T	0.16041	0.0386	M	0.92970	3.365	0.39767	D	0.972116	D	0.89917	1.0	D	0.97110	1.0	T	0.05666	-1.0871	10	0.87932	D	0	.	12.5835	0.56403	0.0:1.0:0.0:0.0	.	37	Q16696	CP2AD_HUMAN	R	37	ENSP00000332679:P37R	ENSP00000332679:P37R	P	+	2	0	CYP2A13	46286326	0.998000	0.40836	0.473000	0.27253	0.545000	0.35147	4.755000	0.62198	1.870000	0.54199	0.444000	0.29173	CCC		0.582	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		G	41594486	C	G	41594486	3	3	269	1	0	0	0	0	1	0	0	0	4163	623	22	4	112	4	CYP2A13	19	41594486	Missense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08	896132	41594486	17534497	54	16249											
AXL	558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41763495	41763495	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:41763495G>A	ENST00000301178.4	+	19	2484	c.2294G>A	c.(2293-2295)gGa>gAa	p.G765E	AXL_ENST00000359092.3_Missense_Mutation_p.G756E|AXL_ENST00000593513.1_Missense_Mutation_p.G497E	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	765	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G756E(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTGCGCCAGGGAAATCGCCTG	0.562																																																1	Substitution - Missense(1)	kidney(1)											137	127	131					19																	41763495		2203	4300	6503	SO:0001583	missense	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2294G>A	19.37:g.41763495G>A	ENSP00000301178:p.Gly765Glu		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923288	0.92319	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	D;D	0.83992	-1.79;-1.79	4.62	4.62	0.57501	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92718	0.7685	M	0.91459	3.21	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.75484	0.939;0.986	D	0.94238	0.7482	10	0.87932	D	0	-8.2416	16.7643	0.85520	0.0:0.0:1.0:0.0	.	756;765	P30530-2;P30530	.;UFO_HUMAN	E	765;756	ENSP00000301178:G765E;ENSP00000351995:G756E	ENSP00000301178:G765E	G	+	2	0	AXL	46455335	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.478000	0.97927	2.557000	0.86248	0.650000	0.86243	GGA		0.562	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			A	41763495	G	A	41763495	3	1	269	1	0	0	0	0	1	0	0	0	1238	1174	41	2	2368	2	AXL	19	41763495	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08	169009	41763495	17365488	55	16250											
ALDH16A1	126133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49963012	49963012	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:49963012G>A	ENST00000293350.4	+	4	569	c.406G>A	c.(406-408)Gac>Aac	p.D136N	ALDH16A1_ENST00000433981.2_5'UTR|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D136N	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	136						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.D136N(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		AGAGGTTCGAGACGGGGACGT	0.642																																																1	Substitution - Missense(1)	kidney(1)											56	55	55					19																	49963012		2203	4300	6503	SO:0001583	missense	126133			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.406G>A	19.37:g.49963012G>A	ENSP00000293350:p.Asp136Asn		B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646084	0.47258	.	.	ENSG00000161618	ENST00000293350;ENST00000455361	T;T	0.75704	-0.96;-0.96	5.38	5.38	0.77491	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.373199	0.28653	N	0.014593	T	0.72510	0.3469	L	0.47716	1.5	0.80722	D	1	P;P	0.47484	0.896;0.505	P;B	0.45660	0.489;0.282	T	0.73962	-0.3817	10	0.48119	T	0.1	-7.5731	15.0276	0.71682	0.0:0.0:1.0:0.0	.	136;136	B4DLQ1;Q8IZ83	.;A16A1_HUMAN	N	136	ENSP00000293350:D136N;ENSP00000410142:D136N	ENSP00000293350:D136N	D	+	1	0	ALDH16A1	54654824	0.796000	0.28864	0.987000	0.45799	0.048000	0.14542	3.284000	0.51708	2.704000	0.92352	0.585000	0.79938	GAC		0.642	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		A	49963012	G	A	49963012	3	1	269	1	0	0	0	0	1	0	0	0	488	942	33	2	420	2	ALDH16A1	19	49963012	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08	8199517	49963012	9165971	56	16251											
ETFB	2109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51848472	51848472	+	Missense_Mutation	SNP	C	C	T	rs145173884		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:51848472C>T	ENST00000309244.4	-	6	852	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Missense_Mutation_p.R345Q|CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.16_ENST00000594311.1_RNA	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	254					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)	p.R345Q(1)		kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GGCTCAAATCCGCCCAATCTC	0.512																																																1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	111	110	110		1034,761	3.3	1	19	dbSNP_134	110	0,8600		0,0,4300	no	missense,missense	ETFB	NM_001014763.1,NM_001985.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	345/347,254/256	51848472	1,13005	2203	4300	6503	SO:0001583	missense	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.761G>A	19.37:g.51848472C>T	ENSP00000311930:p.Arg254Gln		A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	ENST00000309244.4	37	CCDS12828.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063196	0.55432	2.27E-4	0.0	ENSG00000105379	ENST00000309244;ENST00000354232	D;D	0.84070	-1.65;-1.8	4.35	3.3	0.37823	.	0.130868	0.47852	D	0.000209	T	0.73087	0.3542	L	0.33485	1.01	0.45822	D	0.998692	B;B	0.24618	0.001;0.107	B;B	0.17433	0.001;0.018	T	0.72014	-0.4418	10	0.56958	D	0.05	.	10.8707	0.46881	0.0:0.906:0.0:0.094	.	254;345	P38117;P38117-2	ETFB_HUMAN;.	Q	254;345	ENSP00000311930:R254Q;ENSP00000346173:R345Q	ENSP00000311930:R254Q	R	-	2	0	ETFB	56540284	0.997000	0.39634	0.996000	0.52242	0.875000	0.50365	1.392000	0.34486	1.417000	0.47077	0.655000	0.94253	CGG		0.512	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1			T	51848472	C	T	51848472	3	4	269	1	0	0	0	0	1	0	0	0	5272	652	23	1	10	1	ETFB	19	51848472	Missense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08	1885460	51848472	7280511	57	16252											
TSEN34	79042	hgsc.bcm.edu;ucsc.edu	37	19	54695606	54695607	+	In_Frame_Ins	INS	-	-	CTT			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:54695606_54695607insCTT	ENST00000396383.1	+	3	589_590	c.278_279insCTT	c.(277-282)agcttc>agCTTcttc	p.94_95insF	MBOAT7_ENST00000338624.6_5'Flank|MBOAT7_ENST00000391754.1_5'Flank|MBOAT7_ENST00000474910.1_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000302937.4_In_Frame_Ins_p.94_95insF|TSEN34_ENST00000396388.2_In_Frame_Ins_p.94_95insF|TSEN34_ENST00000429671.2_In_Frame_Ins_p.94_95insF|MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000431666.2_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	94					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAAGAGGAGAGCTTCCAGGAGC	0.584																																					Esophageal Squamous(37;841 964 4869 42824)											0																																										SO:0001652	inframe_insertion	79042			AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"tRNA splicing endonuclease subunits"	15506	protein-coding gene	gene with protein product		608754	"leukocyte receptor cluster (LRC) member 5", "tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)", "tRNA splicing endonuclease 34 homolog (S. cerevisiae)"	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.279_281dupCTT	19.37:g.54695607_54695609dupCTT	ENSP00000379667:p.Phe94_Phe94dup		A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	In_Frame_Ins	INS	ENST00000396383.1	37	CCDS42609.1																																																																																				0.584	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		CTT	54695607	-	CTT	54695606	7	5	269	1	0	1	1	0	0	0	0	0	16618	971	34	0	284	0	TSEN34	19	54695606	In_Frame_Ins	INS	-	TCGA-B8-4153-01B-11D-1669-08	2847134	54695606	4433377	58	16253											
KIR3DP1	3811	broad.mit.edu	37	19	55297923	55297923	+	Intron	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr19:55297923G>T	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGGTGGTCAGGACAAGCCCTT	0.567																																																0													31	53	46					19																	55297923		684	1531	2215	SO:0001627	intron_variant	548594			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-31066G>T	19.37:g.55297923G>T			O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37																																																																																					0.567	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		T	55297923	G	T	55297923	1	4	269	0	1	0	0	0	0	0	0	0	8325	1174	41	4		4	KIR3DP1	19	55297923	Intron	SNP	G	TCGA-B8-4153-01B-11D-1669-08	602317	55297923	3831060	59	16254											
CHGB	1114	broad.mit.edu	37	20	5903113	5903113	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr20:5903113G>T	ENST00000378961.4	+	4	527	c.323G>T	c.(322-324)gGg>gTg	p.G108V		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	108						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.G108V(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGAGCCCCAGGGGAGGAGGAC	0.582																																																1	Substitution - Missense(1)	kidney(1)											36	37	37					20																	5903113		2203	4300	6503	SO:0001583	missense	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.323G>T	20.37:g.5903113G>T	ENSP00000368244:p.Gly108Val		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858879	0.17178	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.09723	3.43;2.95	5.25	-2.96	0.05547	.	1.172930	0.06186	N	0.680415	T	0.06554	0.0168	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.41980	-0.9478	10	0.38643	T	0.18	-6.7663	2.6853	0.05106	0.1389:0.2391:0.3838:0.2382	.	108	P05060	SCG1_HUMAN	V	108;88	ENSP00000368244:G108V;ENSP00000416643:G88V	ENSP00000368244:G108V	G	+	2	0	CHGB	5851113	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.774000	0.01784	-0.285000	0.09089	-2.364000	0.00238	GGG		0.582	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		T	5903113	G	T	5903113	3	4	269	1	0	0	0	0	1	0	0	0	3341	1232	43	4	337	4	CHGB	20	5903113	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08		5903113	57122407	60	16255											
C20orf132	140699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	35772198	35772198	+	Missense_Mutation	SNP	C	C	A	rs200754300		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr20:35772198C>A	ENST00000400441.3	-	11	1256	c.1257G>T	c.(1255-1257)ttG>ttT	p.L419F	MROH8_ENST00000441008.2_Missense_Mutation_p.L405F|MROH8_ENST00000217333.8_Missense_Mutation_p.L299F			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	304								p.L419F(1)									GACATTTTGTCAATGCTCTTT	0.353																																																1	Substitution - Missense(1)	kidney(1)											63	57	59					20																	35772198		1839	4085	5924	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1257G>T	20.37:g.35772198C>A	ENSP00000383291:p.Leu419Phe		Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.69|11.69|11.69	1.712504|1.712504|1.712504	0.30322|0.30322|0.30322	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000417458;ENST00000421643|ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811;ENST00000400440	.|T;T;T|.	.|0.49432|.	.|2.79;2.79;0.78|.	4.91|4.91|4.91	3.94|3.94|3.94	0.45596|0.45596|0.45596	.|.|.	.|3.709890|.	.|0.00783|.	.|N|.	.|0.001297|.	T|T|.	0.29190|0.29190|.	0.0726|0.0726|.	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.34018|0.34018|0.34018	D|D|D	0.652282|0.652282|0.652282	.|P;P;P;P|.	.|0.49090|.	.|0.779;0.919;0.919;0.571|.	.|B;B;B;B|.	.|0.43052|.	.|0.168;0.406;0.406;0.16|.	T|T|.	0.39961|0.39961|.	-0.9588|-0.9588|.	5|10|.	.|0.51188|.	.|T|.	.|0.08|.	-1.6647|-1.6647|-1.6647	10.5821|10.5821|10.5821	0.45261|0.45261|0.45261	0.1926:0.8074:0.0:0.0|0.1926:0.8074:0.0:0.0|0.1926:0.8074:0.0:0.0	.|.|.	.|419;304;429;304|.	.|E7ETR9;Q9H579;Q6PF12;Q9H579-2|.	.|.;CT132_HUMAN;.;.|.	Y|F|L	98;421|405;419;299|446;450	.|ENSP00000392144:L405F;ENSP00000383291:L419F;ENSP00000217333:L299F|.	.|ENSP00000217333:L299F|.	D|L|X	-|-|-	1|3|2	0|2|2	C20orf132|C20orf132|C20orf132	35205612|35205612|35205612	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	0.984000|0.984000|0.984000	0.44739|0.44739|0.44739	0.519000|0.519000|0.519000	0.34347|0.34347|0.34347	1.161000|1.161000|1.161000	0.31773|0.31773|0.31773	1.389000|1.389000|1.389000	0.46526|0.46526|0.46526	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|TTG|TGA		0.353	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		A	35772198	C	A	35772198	3	1	269	1	0	0	0	0	1	0	0	0	2088	825	29	4	1939	4	C20orf132	20	35772198	Missense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08	29869085	35772198	27253322	61	16256											
MC3R	4159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	54824503	54824503	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr20:54824503C>A	ENST00000243911.2	+	1	716	c.604C>A	c.(604-606)Ctc>Atc	p.L202I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	202					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.L239I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CATGATGCTCCTCATGGGCAC	0.592																																																1	Substitution - Missense(1)	kidney(1)											195	163	174					20																	54824503		2203	4300	6503	SO:0001583	missense	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.604C>A	20.37:g.54824503C>A	ENSP00000243911:p.Leu202Ile		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409076	0.83340	.	.	ENSG00000124089	ENST00000243911	T	0.36878	1.23	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.53674	0.1811	L	0.49699	1.58	0.54753	D	0.999988	D	0.67145	0.996	D	0.63488	0.915	T	0.55995	-0.8052	10	0.62326	D	0.03	.	17.9664	0.89100	0.0:1.0:0.0:0.0	.	239	P41968	MC3R_HUMAN	I	202	ENSP00000243911:L202I	ENSP00000243911:L202I	L	+	1	0	MC3R	54257910	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	5.819000	0.69243	2.319000	0.78375	0.555000	0.69702	CTC		0.592	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			A	54824503	C	A	54824503	3	1	269	1	0	0	0	0	1	0	0	0	9367	681	24	4	606	4	MC3R	20	54824503	Missense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08	19052305	54824503	8201017	62	16257											
LAMA5	3911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	60904899	60904899	+	Silent	SNP	C	C	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr20:60904899C>G	ENST00000252999.3	-	32	4119	c.4053G>C	c.(4051-4053)ctG>ctC	p.L1351L	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1351	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.L1351L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCACGTCCAGCAGGGCCTGGC	0.677																																																1	Substitution - coding silent(1)	kidney(1)											36	31	33					20																	60904899		2202	4293	6495	SO:0001819	synonymous_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4053G>C	20.37:g.60904899C>G			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																				0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		G	60904899	C	G	60904899	2	3	269	1	0	0	0	0	0	0	0	1	8611	697	25	4		4	LAMA5	20	60904899	Silent	SNP	C	TCGA-B8-4153-01B-11D-1669-08	6080396	60904899	2120621	63	16258											
ADAMTS5	11096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	28338273	28338273	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr21:28338273delA	ENST00000284987.5	-	1	559	c.438delT	c.(436-438)tttfs	p.F146fs		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	146					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACAGAGGTCAAAGACAGCCA	0.672																																					Esophageal Squamous(53;683 1080 10100 14424 45938)											0													26	24	25					21																	28338273		2203	4297	6500	SO:0001589	frameshift_variant	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.438delT	21.37:g.28338273delA	ENSP00000284987:p.Phe146fs		Q52LV4|Q9UKP2	Frame_Shift_Del	DEL	ENST00000284987.5	37	CCDS13579.1																																																																																				0.672	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			-	28338273	A	-	28338273	7	5	269	1	0	1	0	1	0	0	0	0	269	127	5	0	2386	0	ADAMTS5	21	28338273	Frame_Shift_Del	DEL	A	TCGA-B8-4153-01B-11D-1669-08		28338273	19791622	64	16259											
NF2	4771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30074218	30074218	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chr22:30074218G>A	ENST00000338641.4	+	14	1921	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	NF2_ENST00000361166.4_Missense_Mutation_p.D494N|NF2_ENST00000334961.7_Missense_Mutation_p.D411N|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.D465N|NF2_ENST00000403999.3_Missense_Mutation_p.D494N|NF2_ENST00000347330.5_Silent_p.*221*|NF2_ENST00000397789.3_Missense_Mutation_p.D494N|NF2_ENST00000361452.4_Missense_Mutation_p.D453N|NF2_ENST00000353887.4_Missense_Mutation_p.D411N|NF2_ENST00000361676.4_Missense_Mutation_p.D452N	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	494					actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.D494N(2)|p.P483fs*17(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GTTGCCTCCTGACATACCAAG	0.448			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	6	Unknown(3)|Substitution - Missense(2)|Deletion - Frameshift(1)	kidney(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)											169	144	153					22																	30074218		2203	4300	6503	SO:0001583	missense	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1480G>A	22.37:g.30074218G>A	ENSP00000344666:p.Asp494Asn		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244621	0.95272	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.66	5.66	0.87406	Ezrin/radixin/moesin, C-terminal (1);	0.319914	0.36338	N	0.002654	T	0.80127	0.4566	L	0.31752	0.955	0.80722	D	1	B;B;P;B;B;P;P;P	0.43094	0.012;0.01;0.692;0.02;0.418;0.799;0.692;0.799	B;B;B;B;B;P;B;B	0.44990	0.035;0.008;0.366;0.016;0.19;0.466;0.217;0.222	T	0.77558	-0.2543	9	.	.	.	.	19.7383	0.96217	0.0:0.0:1.0:0.0	.	469;465;453;494;494;452;411;494	B7Z4B6;P35240-8;P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;.;.;MERL_HUMAN;.;.;.;.	N	494;465;453;469;494;411;411;494;452;494	ENSP00000344666:D494N;ENSP00000384029:D465N;ENSP00000354897:D453N;ENSP00000384797:D494N;ENSP00000335652:D411N;ENSP00000340626:D411N;ENSP00000380891:D494N;ENSP00000355183:D452N;ENSP00000354529:D494N	.	D	+	1	0	NF2	28404218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.775000	0.91772	2.675000	0.91044	0.655000	0.94253	GAC		0.448	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		A	30074218	G	A	30074218	3	1	269	1	0	0	0	0	1	0	0	0	10359	1290	45	2	1534	2	NF2	22	30074218	Missense_Mutation	SNP	G	TCGA-B8-4153-01B-11D-1669-08		30074218	21230348	65	16260											
CA5B	11238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	15768234	15768234	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chrX:15768234C>G	ENST00000318636.3	+	2	224	c.88C>G	c.(88-90)Cca>Gca	p.P30A	CA5B_ENST00000454127.2_Missense_Mutation_p.P30A|CA5B_ENST00000380313.1_3'UTR	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.P30A(1)		endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					GAGATTCATGCCAGCGAGGCC	0.493																																																1	Substitution - Missense(1)	kidney(1)											117	115	115					X																	15768234		2203	4300	6503	SO:0001583	missense	11238			AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"Carbonic anhydrases"	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.88C>G	X.37:g.15768234C>G	ENSP00000314099:p.Pro30Ala		A6NEZ4	Missense_Mutation	SNP	ENST00000318636.3	37	CCDS14171.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897900	0.33535	.	.	ENSG00000169239	ENST00000498004;ENST00000318636;ENST00000479740;ENST00000454127	T;T;T	0.68624	-0.34;0.1;-0.34	5.37	4.5	0.54988	.	0.417536	0.20109	N	0.099052	T	0.54175	0.1842	L	0.32530	0.975	0.09310	N	0.999999	P	0.36144	0.539	B	0.35899	0.213	T	0.50457	-0.8826	10	0.56958	D	0.05	-2.9105	9.3905	0.38370	0.0:0.898:0.0:0.102	.	30	Q9Y2D0	CAH5B_HUMAN	A	30	ENSP00000314099:P30A;ENSP00000417553:P30A;ENSP00000417021:P30A	ENSP00000314099:P30A	P	+	1	0	CA5B	15678155	0.006000	0.16342	0.006000	0.13384	0.058000	0.15608	1.003000	0.29809	1.032000	0.39892	0.513000	0.50165	CCA		0.493	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		G	15768234	C	G	15768234	3	3	269	1	0	0	0	0	1	0	0	0	2522	739	26	4	90	4	CA5B	23	15768234	Missense_Mutation	SNP	C	TCGA-B8-4153-01B-11D-1669-08		15768234	139502326	66	16261											
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-B8-4153-01B-11D-1669-08	TCGA-B8-4153-11A-01D-1669-08	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a66078d8-a6b2-4dc4-bfa3-def5a2e4504f	9f514938-c1ca-49d9-97ab-79cf8157f0a8	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)											5	Unknown(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)								1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC			Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37	CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	269	1	0	1	0	1	0	0	0	0	10729	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-B8-4153-01B-11D-1669-08	35471062	51239296	104031264	67	16262											
PHC2	1912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33796958	33796958	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:33796958C>T	ENST00000257118.5	-	11	2047	c.1994G>A	c.(1993-1995)tGt>tAt	p.C665Y	PHC2_ENST00000373422.3_Missense_Mutation_p.C271Y|PHC2_ENST00000431992.1_Missense_Mutation_p.C636Y|PHC2_ENST00000373416.1_Missense_Mutation_p.C130Y|PHC2_ENST00000419414.2_Missense_Mutation_p.C666Y|PHC2_ENST00000373418.3_Missense_Mutation_p.C130Y|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	665					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C665Y(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTCTTTGCACAAGCCATGGA	0.552																																																1	Substitution - Missense(1)	kidney(1)											99	106	104					1																	33796958		2203	4300	6503	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1994G>A	1.37:g.33796958C>T	ENSP00000257118:p.Cys665Tyr		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	CCDS378.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952531	0.92660	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	5.85	5.85	0.93711	Zinc finger, FCS-type (1);	0.045423	0.85682	D	0.000000	D	0.82472	0.5044	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.996;0.996;0.996;0.998	D	0.84833	0.0803	10	0.87932	D	0	-7.9761	17.6714	0.88218	0.0:1.0:0.0:0.0	.	666;637;665;80	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	Y	636;665;271;130;243;666;130	ENSP00000389436:C636Y;ENSP00000257118:C665Y;ENSP00000362521:C271Y;ENSP00000362517:C130Y;ENSP00000391440:C666Y;ENSP00000362515:C130Y	ENSP00000257118:C665Y	C	-	2	0	PHC2	33569545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.343000	0.79319	2.771000	0.95319	0.561000	0.74099	TGT		0.552	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		T	33796958	C	T	33796958	3	4	270	1	0	0	0	0	1	0	0	0	11819	478	17	2	598	2	PHC2	1	33796958	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10		33796958	215453663	1	16263											
TCHHL1	126637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152060504	152060504	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:152060504C>T	ENST00000368806.1	-	2	180	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	39							calcium ion binding (GO:0005509)	p.G39D(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCCAAACTCGCCCTGGATGAG	0.443																																																1	Substitution - Missense(1)	kidney(1)											182	178	179					1																	152060504		2203	4300	6503	SO:0001583	missense	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.116G>A	1.37:g.152060504C>T	ENSP00000357796:p.Gly39Asp		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.98	2.398574	0.42512	.	.	ENSG00000182898	ENST00000368806	T	0.08720	3.06	6.0	4.13	0.48395	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.617892	0.13467	N	0.385674	T	0.12561	0.0305	M	0.72894	2.215	0.09310	N	1	D	0.65815	0.995	D	0.67231	0.95	T	0.11203	-1.0597	10	0.35671	T	0.21	-2.1256	9.6327	0.39789	0.0:0.8356:0.0:0.1644	.	39	Q5QJ38	TCHL1_HUMAN	D	39	ENSP00000357796:G39D	ENSP00000357796:G39D	G	-	2	0	TCHHL1	150327128	0.001000	0.12720	0.475000	0.27278	0.218000	0.24690	0.584000	0.23864	1.558000	0.49541	-0.136000	0.14681	GGC		0.443	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		T	152060504	C	T	152060504	3	4	270	1	0	0	0	0	1	0	0	0	15706	739	26	2	2606	2	TCHHL1	1	152060504	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10	118263546	152060504	97190117	2	16264											
DEDD	9191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161093708	161093708	+	Silent	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:161093708C>A	ENST00000368006.3	-	4	568	c.354G>T	c.(352-354)ctG>ctT	p.L118L	DEDD_ENST00000458050.2_Silent_p.L118L|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000490843.2_Silent_p.L118L|DEDD_ENST00000545495.1_Silent_p.L118L|DEDD_ENST00000368005.1_Silent_p.L118L|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000392188.1_Silent_p.L118L	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	118					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)	p.L118L(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATGTCTCCTCCAGATACTTGT	0.507																																																1	Substitution - coding silent(1)	kidney(1)											137	129	131					1																	161093708		2203	4300	6503	SO:0001819	synonymous_variant	9191			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"death effector domain-containing"			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.354G>T	1.37:g.161093708C>A			D3DVF5|O60737	Silent	SNP	ENST00000368006.3	37	CCDS1219.1																																																																																				0.507	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	NM_004216		A	161093708	C	A	161093708	2	1	270	1	0	0	0	0	0	0	0	1	4386	581	21	4		4	DEDD	1	161093708	Silent	SNP	C	TCGA-B8-4154-01A-01D-1251-10	9033204	161093708	88156913	3	16265											
F13B	2165	broad.mit.edu;ucsc.edu	37	1	197029544	197029544	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:197029544T>C	ENST00000367412.1	-	5	800	c.757A>G	c.(757-759)Att>Gtt	p.I253V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	253	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.I253V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAGCATTGAATTAAATCAGAT	0.318																																																1	Substitution - Missense(1)	kidney(1)											75	84	81					1																	197029544		2203	4293	6496	SO:0001583	missense	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.757A>G	1.37:g.197029544T>C	ENSP00000356382:p.Ile253Val		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983640	0.53827	.	.	ENSG00000143278	ENST00000367412	T	0.68025	-0.3	5.76	4.63	0.57726	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.33572	N	0.004762	T	0.63271	0.2497	L	0.38692	1.165	0.48632	D	0.999686	P	0.35575	0.51	P	0.44772	0.46	T	0.60063	-0.7336	10	0.33940	T	0.23	.	11.9363	0.52876	0.0:0.0679:0.0:0.9321	.	253	P05160	F13B_HUMAN	V	253	ENSP00000356382:I253V	ENSP00000356382:I253V	I	-	1	0	F13B	195296167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.631000	0.54280	1.114000	0.41781	0.528000	0.53228	ATT		0.318	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		C	197029544	T	C	197029544	3	2	270	1	0	0	0	0	1	0	0	0	5343	1493	52	3	1260	3	F13B	1	197029544	Missense_Mutation	SNP	T	TCGA-B8-4154-01A-01D-1251-10	35935836	197029544	52221077	4	16266											
PLXNA2	5362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	208207921	208207921	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:208207921A>G	ENST00000367033.3	-	27	5538	c.4781T>C	c.(4780-4782)gTg>gCg	p.V1594A		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1594					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.V1594A(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGAGCCACCACCGACCTGTC	0.522																																																1	Substitution - Missense(1)	kidney(1)											104	92	96					1																	208207921		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4781T>C	1.37:g.208207921A>G	ENSP00000356000:p.Val1594Ala		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.288152	0.59976	.	.	ENSG00000076356	ENST00000367033	T	0.11495	2.77	5.17	5.17	0.71159	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.059067	0.64402	D	0.000002	T	0.17916	0.0430	M	0.76574	2.34	0.80722	D	1	B	0.21821	0.061	B	0.27076	0.076	T	0.01720	-1.1288	10	0.40728	T	0.16	.	15.0406	0.71788	1.0:0.0:0.0:0.0	.	1594	O75051	PLXA2_HUMAN	A	1594	ENSP00000356000:V1594A	ENSP00000356000:V1594A	V	-	2	0	PLXNA2	206274544	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	6.793000	0.75130	1.955000	0.56771	0.528000	0.53228	GTG		0.522	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		G	208207921	A	G	208207921	3	3	270	1	0	0	0	0	1	0	0	0	12122	159	6	3	927	3	PLXNA2	1	208207921	Missense_Mutation	SNP	A	TCGA-B8-4154-01A-01D-1251-10	11178377	208207921	41042700	5	16267											
IARS2	55699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	220318884	220318884	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:220318884C>A	ENST00000302637.5	+	22	2889	c.2785C>A	c.(2785-2787)Cag>Aag	p.Q929K	IARS2_ENST00000366922.1_Missense_Mutation_p.Q857K	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	929					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.Q929K(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CAGCACCTCTCAGTTGAATGA	0.398																																																1	Substitution - Missense(1)	kidney(1)											62	59	60					1																	220318884		2203	4300	6503	SO:0001583	missense	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2785C>A	1.37:g.220318884C>A	ENSP00000303279:p.Gln929Lys		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325748	0.60743	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.11063	2.81;2.81	5.57	4.62	0.57501	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.059697	0.64402	D	0.000001	T	0.07908	0.0198	N	0.19112	0.55	0.80722	D	1	P	0.39282	0.666	B	0.33339	0.162	T	0.28964	-1.0027	10	0.48119	T	0.1	-19.3765	16.4585	0.84029	0.0:0.8691:0.1309:0.0	.	929	Q9NSE4	SYIM_HUMAN	K	857;929	ENSP00000355889:Q857K;ENSP00000303279:Q929K	ENSP00000303279:Q929K	Q	+	1	0	IARS2	218385507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.666000	0.61554	2.634000	0.89283	0.655000	0.94253	CAG		0.398	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		A	220318884	C	A	220318884	3	1	270	1	0	0	0	0	1	0	0	0	7476	827	29	4	2871	4	IARS2	1	220318884	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10	12110963	220318884	28931737	6	16268											
SOS1	6654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39250004	39250004	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr2:39250004T>C	ENST00000426016.1	-	11	1651	c.1565A>G	c.(1564-1566)aAt>aGt	p.N522S	SOS1_ENST00000402219.2_Missense_Mutation_p.N522S|SOS1_ENST00000472480.1_5'Flank|SOS1_ENST00000395038.2_Missense_Mutation_p.N522S			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	522	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N522S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TATAACACTATTTTCATCTTT	0.323									Noonan syndrome																																							1	Substitution - Missense(1)	kidney(1)											64	64	64					2																	39250004		2203	4299	6502	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1565A>G	2.37:g.39250004T>C	ENSP00000387784:p.Asn522Ser		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	2.947	-0.217619	0.06101	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.87887	-2.31;-2.31;-2.31	5.6	4.43	0.53597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	N	0.17564	0.495	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.006	T	0.66524	-0.5902	10	0.06494	T	0.89	.	11.6882	0.51499	0.0:0.0705:0.0:0.9295	.	254;522	F5GX06;Q07889	.;SOS1_HUMAN	S	522;522;254;522;522	ENSP00000387784:N522S;ENSP00000384675:N522S;ENSP00000378479:N522S	ENSP00000263879:N522S	N	-	2	0	SOS1	39103508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.050000	0.49877	2.129000	0.65627	0.455000	0.32223	AAT		0.323	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		C	39250004	T	C	39250004	3	2	270	1	0	0	0	0	1	0	0	0	14942	1493	52	3	2492	3	SOS1	2	39250004	Missense_Mutation	SNP	T	TCGA-B8-4154-01A-01D-1251-10		39250004	203949369	7	16269											
NDUFS1	4719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	207008817	207008817	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr2:207008817C>A	ENST00000233190.6	-	10	1178	c.912G>T	c.(910-912)gaG>gaT	p.E304D	NDUFS1_ENST00000423725.1_Missense_Mutation_p.E247D|NDUFS1_ENST00000455934.2_Missense_Mutation_p.E318D|NDUFS1_ENST00000432169.1_Missense_Mutation_p.E193D|NDUFS1_ENST00000457011.1_Missense_Mutation_p.E188D|NDUFS1_ENST00000449699.1_Missense_Mutation_p.E304D|NDUFS1_ENST00000440274.1_Missense_Mutation_p.E268D	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	304					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.E304D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACCATTGGCTCGGTAAGTC	0.368																																																1	Substitution - Missense(1)	kidney(1)											107	104	105					2																	207008817		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.912G>T	2.37:g.207008817C>A	ENSP00000233190:p.Glu304Asp		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668404	0.29604	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.87	3.11	0.35812	Molybdopterin oxidoreductase (1);	0.152181	0.64402	D	0.000013	T	0.73016	0.3533	N	0.08118	0	0.41483	D	0.988176	B;B;B;B	0.17465	0.001;0.022;0.0;0.0	B;B;B;B	0.25759	0.005;0.063;0.003;0.003	T	0.61476	-0.7055	10	0.31617	T	0.26	-5.7882	8.8319	0.35089	0.0:0.7129:0.0:0.2871	.	193;268;318;304	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	D	304;247;188;268;318;304;193	ENSP00000233190:E304D;ENSP00000397760:E247D;ENSP00000400976:E188D;ENSP00000409766:E268D;ENSP00000392709:E318D;ENSP00000399912:E304D;ENSP00000409689:E193D	ENSP00000233190:E304D	E	-	3	2	NDUFS1	206717062	1.000000	0.71417	0.551000	0.28230	0.734000	0.41952	0.971000	0.29396	0.392000	0.25172	0.591000	0.81541	GAG		0.368	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		A	207008817	C	A	207008817	3	1	270	1	0	0	0	0	1	0	0	0	10293	796	28	4	1311	4	NDUFS1	2	207008817	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10	167758813	207008817	36190556	8	16270											
SLC4A3	6508	broad.mit.edu;hgsc.bcm.edu	37	2	220497001	220497001	+	Silent	SNP	C	C	T	rs374831285		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr2:220497001C>T	ENST00000358055.3	+	8	1490	c.978C>T	c.(976-978)aaC>aaT	p.N326N	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Silent_p.N353N|SLC4A3_ENST00000273063.6_Silent_p.N353N|SLC4A3_ENST00000317151.3_Silent_p.N326N|SLC4A3_ENST00000373760.2_Silent_p.N326N			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	326					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.N353N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGCTGAACGAGCTGATGC	0.672																																																1	Substitution - coding silent(1)	kidney(1)						T	,	1,4405	2.1+/-5.4	0,1,2202	37	42	41		978,1059	-7.7	0.5	2		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC4A3	NM_005070.3,NM_201574.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	326/1233,353/1260	220497001	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.978C>T	2.37:g.220497001C>T			A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	CCDS2445.1																																																																																				0.672	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		T	220497001	C	T	220497001	2	4	270	1	0	0	0	0	0	0	0	1	14661	535	19	1		1	SLC4A3	2	220497001	Silent	SNP	C	TCGA-B8-4154-01A-01D-1251-10	13488184	220497001	22702372	9	16271											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191563	10191563	+	Nonsense_Mutation	SNP	G	G	T	rs367545984		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:10191563G>T	ENST00000256474.2	+	3	1396	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.E145*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	186			E -> K (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|Missing (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E186*(3)|p.Y185_D187>*(1)|p.Y185fs*14(1)|p.E186fs*14(1)|p.Y185fs*11(1)|p.E186K(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCGCTCTACGAAGATCTGGA	0.512		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Substitution - Nonsense(3)|Deletion - Frameshift(3)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(7)|large_intestine(1)	GRCh37	CM951297|CM951298	VHL	M							78	71	73					3																	10191563		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.556G>T	3.37:g.10191563G>T	ENSP00000256474:p.Glu186*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826310	0.71143	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-10.1279	16.1249	0.81386	0.0:0.0:1.0:0.0	.	.	.	.	X	186;145;104	.	ENSP00000256474:E186X	E	+	1	0	VHL	10166563	1.000000	0.71417	0.978000	0.43139	0.578000	0.36192	7.062000	0.76706	2.735000	0.93741	0.655000	0.94253	GAA		0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191563	G	T	10191563	4	4	270	1	0	0	0	0	0	1	0	0	17167	1059	37	4	566	4	VHL	3	10191563	Nonsense_Mutation	SNP	G	TCGA-B8-4154-01A-01D-1251-10		10191563	187830867	10	16272											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52682418	52682418	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:52682418A>C	ENST00000296302.7	-	7	756	c.755T>G	c.(754-756)aTa>aGa	p.I252R	PBRM1_ENST00000337303.4_Missense_Mutation_p.I252R|PBRM1_ENST00000409057.1_Missense_Mutation_p.I252R|PBRM1_ENST00000409767.1_Missense_Mutation_p.I252R|PBRM1_ENST00000410007.1_Missense_Mutation_p.I252R|PBRM1_ENST00000394830.3_Missense_Mutation_p.I252R|PBRM1_ENST00000356770.4_Missense_Mutation_p.I252R|PBRM1_ENST00000409114.3_Missense_Mutation_p.I252R			Q86U86	PB1_HUMAN	polybromo 1	252	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D251fs*31(3)|p.I252R(3)|p.M248fs*9(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAGGAGATCTATATCTTTGGC	0.338			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	8	Deletion - Frameshift(5)|Substitution - Missense(3)	kidney(8)											191	183	185					3																	52682418		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.755T>G	3.37:g.52682418A>C	ENSP00000296302:p.Ile252Arg		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	24.5	4.541837	0.85917	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.68	5.68	0.88126	Bromodomain (5);Bromodomain, conserved site (1);	0.048347	0.85682	D	0.000000	T	0.52996	0.1769	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.996;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.85130	0.994;0.99;0.988;0.994;0.975;0.993;0.997;0.994;0.986	T	0.61491	-0.7052	10	0.87932	D	0	-18.6823	15.6013	0.76628	1.0:0.0:0.0:0.0	.	252;252;252;252;252;252;252;252;252	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	R	252;252;252;252;252;252;252;252;252;196	ENSP00000349213:I252R;ENSP00000378307:I252R;ENSP00000296302:I252R;ENSP00000338302:I252R;ENSP00000386593:I252R;ENSP00000386529:I252R;ENSP00000386643:I252R;ENSP00000386601:I252R;ENSP00000387775:I252R;ENSP00000397662:I196R	ENSP00000296302:I252R	I	-	2	0	PBRM1	52657458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.531000	0.90610	2.164000	0.68074	0.528000	0.53228	ATA		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52682418	A	C	52682418	3	2	270	1	0	0	0	0	1	0	0	0	11493	449	16	5	4241	5	PBRM1	3	52682418	Missense_Mutation	SNP	A	TCGA-B8-4154-01A-01D-1251-10	42490855	52682418	145340012	11	16273											
C3orf67	200844	broad.mit.edu;hgsc.bcm.edu	37	3	58923375	58923375	+	Splice_Site	SNP	A	A	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:58923375A>C	ENST00000482387.1	-	1	113	c.17T>G	c.(16-18)aTt>aGt	p.I6S	C3orf67_ENST00000472469.1_5'UTR|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000295966.7_Splice_Site_p.I6S|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000491845.1_Splice_Site_p.I6S|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	6								p.I6S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GATACTTACAATTTTACGTTT	0.338																																																1	Substitution - Missense(1)	kidney(1)											137	142	140					3																	58923375		2203	4300	6503	SO:0001630	splice_region_variant	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.18+1T>G	3.37:g.58923375A>C			B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.	.	.	.	.	.	.	.	.	.	A	10.43	1.347021	0.24426	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000491845;ENST00000471288	T;T;T;T	0.54071	0.59;0.59;1.08;0.59	5.97	5.97	0.96955	.	0.294348	0.33534	N	0.004814	T	0.66567	0.2802	L	0.48642	1.525	0.51767	D	0.999937	D	0.89917	1.0	D	0.77004	0.989	T	0.64322	-0.6435	9	.	.	.	-16.3636	16.43	0.83839	1.0:0.0:0.0:0.0	.	6	Q6ZVT6-2	.	S	6;6;6;131	ENSP00000295966:I6S;ENSP00000417122:I6S;ENSP00000418832:I6S;ENSP00000417639:I131S	.	I	-	2	0	C3orf67	58898415	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	7.407000	0.80029	2.283000	0.76528	0.533000	0.62120	ATT		0.338	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	Missense_Mutation	C	58923375	A	C	58923375	5	2	270	1	0	0	0	0	0	0	1	0	2243	115	4	5	1722	5	C3orf67	3	58923375	Splice_Site	SNP	A	TCGA-B8-4154-01A-01D-1251-10	6240957	58923375	139099055	12	16274											
MUC13	56667	hgsc.bcm.edu;ucsc.edu	37	3	124646754	124646754	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:124646754T>A	ENST00000311075.3	-	2	174	c.136A>T	c.(136-138)Act>Tct	p.T46S	MUC13_ENST00000497378.1_5'UTR	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	46	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TTAGTTTCAGTGGTATCAGCT	0.473																																																0													203	188	193					3																	124646754		2203	4300	6503	SO:0001583	missense	56667			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.136A>T	3.37:g.124646754T>A	ENSP00000312235:p.Thr46Ser		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37		.	.	.	.	.	.	.	.	.	.	T	5.410	0.260845	0.10239	.	.	ENSG00000173702	ENST00000311075	T	0.15139	2.45	2.47	-4.94	0.03057	.	1.268860	0.05865	N	0.623680	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.36065	-0.9763	10	0.08381	T	0.77	-2.878	1.5495	0.02571	0.2266:0.1254:0.4306:0.2174	.	46	Q9H3R2	MUC13_HUMAN	S	46	ENSP00000312235:T46S	ENSP00000312235:T46S	T	-	1	0	MUC13	126129444	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.946000	0.00680	-2.032000	0.00926	-0.648000	0.03929	ACT		0.473	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		A	124646754	T	A	124646754	3	1	270	1	0	0	0	0	1	0	0	0	9973	1696	59	5	1439	5	MUC13	3	124646754	Missense_Mutation	SNP	T	TCGA-B8-4154-01A-01D-1251-10	65723379	124646754	73375676	13	16275											
CLSTN2	64084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	140122627	140122627	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:140122627G>C	ENST00000458420.3	+	3	579	c.389G>C	c.(388-390)gGt>gCt	p.G130A	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.G130A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TATGACTGTGGTGCTGGGCCC	0.587										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)											1	Substitution - Missense(1)	kidney(1)											102	96	98					3																	140122627		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.389G>C	3.37:g.140122627G>C	ENSP00000402460:p.Gly130Ala		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768523	0.90020	.	.	ENSG00000158258	ENST00000458420	T	0.50001	0.76	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.75755	-0.3206	10	0.72032	D	0.01	-20.5607	17.2112	0.86930	0.0:0.0:1.0:0.0	.	130	Q9H4D0	CSTN2_HUMAN	A	130	ENSP00000402460:G130A	ENSP00000402460:G130A	G	+	2	0	CLSTN2	141605317	1.000000	0.71417	0.964000	0.40570	0.915000	0.54546	9.338000	0.96553	2.653000	0.90120	0.655000	0.94253	GGT		0.587	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		C	140122627	G	C	140122627	3	2	270	1	0	0	0	0	1	0	0	0	3564	1261	44	4	399	4	CLSTN2	3	140122627	Missense_Mutation	SNP	G	TCGA-B8-4154-01A-01D-1251-10	15475873	140122627	57899803	14	16276											
KCNAB1	7881	hgsc.bcm.edu;ucsc.edu	37	3	156009880	156009880	+	Intron	DEL	A	A	-			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:156009880delA	ENST00000490337.1	+	2	339				KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Frame_Shift_Del_p.K62fs|KCNAB1_ENST00000302490.8_Frame_Shift_Del_p.K62fs|KCNAB1_ENST00000471742.1_Intron	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATTTCTCTCAAAGAGTCCAC	0.562																																																0													73	67	69					3																	156009880		2203	4300	6503	SO:0001627	intron_variant	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129525A>-	3.37:g.156009880delA			A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Frame_Shift_Del	DEL	ENST00000490337.1	37	CCDS3174.1																																																																																				0.562	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		-	156009880	A	-	156009880	6	5	270	0	1	1	0	1	0	0	0	0	8011	131	5	0		0	KCNAB1	3	156009880	Intron	DEL	A	TCGA-B8-4154-01A-01D-1251-10	15887253	156009880	42012550	15	16277											
MECOM	2122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	168849313	168849314	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:168849313_168849314delAG	ENST00000494292.1	-	4	613_614	c.516_517delCT	c.(514-519)ttctatfs	p.FY172fs	MECOM_ENST00000472280.1_5'UTR|MECOM_ENST00000464456.1_5'UTR|MECOM_ENST00000460814.1_5'UTR|MECOM_ENST00000468789.1_5'UTR|MECOM_ENST00000392736.3_5'UTR|MECOM_ENST00000433243.2_5'UTR|MECOM_ENST00000264674.3_Frame_Shift_Del_p.FY48fs	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTACTCTATAGAATATCTTTA	0.406																																																0																																										SO:0001589	frameshift_variant	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.516_517delCT	3.37:g.168849313_168849314delAG	ENSP00000417899:p.Phe172fs		Q13466|Q6FH90	Frame_Shift_Del	DEL	ENST00000494292.1	37																																																																																					0.406	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3	NM_005241, NM_004991		-	168849314	AG	-	168849313	7	5	270	1	0	1	0	1	0	0	0	0	9424	420	15	0	3261	0	MECOM	3	168849313	Frame_Shift_Del	DEL	AG	TCGA-B8-4154-01A-01D-1251-10	12839433	168849313	29173117	16	16278											
WFS1	7466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	6303445	6303445	+	Silent	SNP	G	G	A	rs139040290		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr4:6303445G>A	ENST00000226760.1	+	8	2093	c.1923G>A	c.(1921-1923)acG>acA	p.T641T	WFS1_ENST00000503569.1_Silent_p.T641T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	641					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)	p.T641T(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGTGGCTCACGGCCATCGTGC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20552	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G	,	0,4406		0,0,2203	291	266	275		1923,1923	1.2	1	4	dbSNP_134	275	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	641/891,641/891	6303445	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7466			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1923G>A	4.37:g.6303445G>A			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1																																																																																				0.597	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			A	6303445	G	A	6303445	2	1	270	1	0	0	0	0	0	0	0	1	17365	1103	39	1		1	WFS1	4	6303445	Silent	SNP	G	TCGA-B8-4154-01A-01D-1251-10		6303445	184850831	17	16279											
GABRA4	2557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	46976378	46976378	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr4:46976378T>C	ENST00000264318.3	-	6	1574	c.592A>G	c.(592-594)Agt>Ggt	p.S198G		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	198					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S198G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATCATCTCACTCTTTGGATAG	0.403																																					Ovarian(6;283 369 8234 12290 33402)											1	Substitution - Missense(1)	kidney(1)											98	91	93					4																	46976378		2203	4299	6502	SO:0001583	missense	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.592A>G	4.37:g.46976378T>C	ENSP00000264318:p.Ser198Gly		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277124	0.80580	.	.	ENSG00000109158	ENST00000264318	T	0.80033	-1.33	5.25	5.25	0.73442	Neurotransmitter-gated ion-channel ligand-binding (3);	0.187160	0.56097	D	0.000022	D	0.86920	0.6049	L	0.60067	1.865	0.45205	D	0.998215	D	0.59357	0.985	D	0.66847	0.947	D	0.87975	0.2739	10	0.66056	D	0.02	.	14.4812	0.67585	0.0:0.0:0.0:1.0	.	198	P48169	GBRA4_HUMAN	G	198	ENSP00000264318:S198G	ENSP00000264318:S198G	S	-	1	0	GABRA4	46671135	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.940000	0.63533	2.201000	0.70794	0.528000	0.53228	AGT		0.403	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			C	46976378	T	C	46976378	3	2	270	1	0	0	0	0	1	0	0	0	6165	1551	54	3	1088	3	GABRA4	4	46976378	Missense_Mutation	SNP	T	TCGA-B8-4154-01A-01D-1251-10	40672933	46976378	144177898	18	16280											
SLC7A11	23657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	139144404	139144404	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr4:139144404G>A	ENST00000280612.5	-	4	874	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	199					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)	p.L199F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ATTGCTGTGAGCTTGCAAAAG	0.393																																																1	Substitution - Missense(1)	kidney(1)											98	103	101					4																	139144404		2203	4300	6503	SO:0001583	missense	23657			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.595C>T	4.37:g.139144404G>A	ENSP00000280612:p.Leu199Phe		A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682787	0.88542	.	.	ENSG00000151012	ENST00000280612	D	0.90261	-2.64	5.48	5.48	0.80851	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	L	0.48218	1.51	0.80722	D	1	P	0.51933	0.949	P	0.56823	0.807	D	0.93351	0.6718	10	0.87932	D	0	.	19.3356	0.94316	0.0:0.0:1.0:0.0	.	199	Q9UPY5	XCT_HUMAN	F	199	ENSP00000280612:L199F	ENSP00000280612:L199F	L	-	1	0	SLC7A11	139363854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.894000	0.75655	2.572000	0.86782	0.591000	0.81541	CTC		0.393	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			A	139144404	G	A	139144404	3	1	270	1	0	0	0	0	1	0	0	0	14700	971	34	2	946	2	SLC7A11	4	139144404	Missense_Mutation	SNP	G	TCGA-B8-4154-01A-01D-1251-10	92168026	139144404	52009872	19	16281											
SLC6A18	348932	broad.mit.edu;hgsc.bcm.edu	37	5	1232438	1232438	+	Missense_Mutation	SNP	G	G	T	rs202179592		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:1232438G>T	ENST00000324642.3	+	2	388	c.265G>T	c.(265-267)Gtg>Ttg	p.V89L	SLC6A18_ENST00000296821.4_Missense_Mutation_p.V89L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	89					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.V89L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGCGTCGGCGTGTGGACGGC	0.657																																																1	Substitution - Missense(1)	kidney(1)											37	36	36					5																	1232438		2202	4300	6502	SO:0001583	missense	348932			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.265G>T	5.37:g.1232438G>T	ENSP00000323549:p.Val89Leu			Missense_Mutation	SNP	ENST00000324642.3	37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317725	0.81469	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.74737	-0.87;-0.87	5.45	5.45	0.79879	.	0.155507	0.42172	D	0.000747	T	0.82226	0.4991	L	0.56280	1.765	0.51012	D	0.999901	D	0.64830	0.994	P	0.62435	0.902	T	0.82808	-0.0274	10	0.54805	T	0.06	.	17.0443	0.86498	0.0:0.0:1.0:0.0	.	89	Q96N87	S6A18_HUMAN	L	89	ENSP00000323549:V89L;ENSP00000296821:V89L	ENSP00000296821:V89L	V	+	1	0	SLC6A18	1285438	1.000000	0.71417	0.952000	0.39060	0.061000	0.15899	4.807000	0.62576	2.560000	0.86352	0.491000	0.48974	GTG		0.657	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		T	1232438	G	T	1232438	3	4	270	1	0	0	0	0	1	0	0	0	14687	1145	40	4	271	4	SLC6A18	5	1232438	Missense_Mutation	SNP	G	TCGA-B8-4154-01A-01D-1251-10		1232438	179682822	20	16282											
CAPSL	133690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	35921149	35921149	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:35921149G>C	ENST00000397367.2	-	2	200	c.74C>G	c.(73-75)cCc>cGc	p.P25R	CAPSL_ENST00000397366.1_Missense_Mutation_p.P25R|CAPSL_ENST00000514524.1_Missense_Mutation_p.P25R	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	25						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.P25R(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCTTTCAATGGGGTCGGTGGC	0.602																																																2	Substitution - Missense(2)	kidney(2)											109	94	99					5																	35921149		2203	4300	6503	SO:0001583	missense	133690			BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"EF-hand domain containing"	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.74C>G	5.37:g.35921149G>C	ENSP00000380524:p.Pro25Arg			Missense_Mutation	SNP	ENST00000397367.2	37	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771186	0.90108	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	D;D;D;T	0.83335	-1.63;-1.63;-1.71;0.47	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	M	0.89095	3.005	0.80722	D	1	D	0.63046	0.992	D	0.64237	0.923	D	0.93506	0.6849	10	0.72032	D	0.01	-13.0973	17.813	0.88622	0.0:0.0:1.0:0.0	.	25	Q8WWF8	CAPSL_HUMAN	R	25	ENSP00000380524:P25R;ENSP00000380523:P25R;ENSP00000424806:P25R;ENSP00000421018:P25R	ENSP00000380523:P25R	P	-	2	0	CAPSL	35956906	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	8.620000	0.90943	2.367000	0.80283	0.563000	0.77884	CCC		0.602	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		C	35921149	G	C	35921149	3	2	270	1	0	0	0	0	1	0	0	0	2641	1232	43	4	568	4	CAPSL	5	35921149	Missense_Mutation	SNP	G	TCGA-B8-4154-01A-01D-1251-10	34688711	35921149	144994111	21	16283											
C7	730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	40947837	40947837	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:40947837C>A	ENST00000313164.9	+	8	1231	c.872C>A	c.(871-873)gCc>gAc	p.A291D		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	291	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.A291D(1)					Ovarian(839;0.0112)				GACTACAGTGCCTACCGAAGA	0.423																																																1	Substitution - Missense(1)	kidney(1)											89	85	87					5																	40947837		1846	4091	5937	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.872C>A	5.37:g.40947837C>A	ENSP00000322061:p.Ala291Asp		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430027	0.83776	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.84944	-1.92	5.9	5.9	0.94986	Membrane attack complex component/perforin (MACPF) domain (3);	0.053142	0.85682	D	0.000000	D	0.89497	0.6732	L	0.59436	1.845	0.54753	D	0.999987	D	0.71674	0.998	D	0.69479	0.964	D	0.86781	0.1979	10	0.27785	T	0.31	-18.6717	13.6854	0.62513	0.0:0.9271:0.0:0.0729	.	291	P10643	CO7_HUMAN	D	291	ENSP00000322061:A291D	ENSP00000322061:A291D	A	+	2	0	C7	40983594	0.991000	0.36638	1.000000	0.80357	0.903000	0.53119	3.542000	0.53625	2.786000	0.95864	0.650000	0.86243	GCC		0.423	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			A	40947837	C	A	40947837	3	1	270	1	0	0	0	0	1	0	0	0	2377	739	26	4	902	4	C7	5	40947837	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10	5026688	40947837	139967423	22	16284											
PDE4D	5144	broad.mit.edu;ucsc.edu	37	5	59284433	59284433	+	Missense_Mutation	SNP	C	C	T	rs543718776		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:59284433C>T	ENST00000502484.2	-	3	377	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	PDE4D_ENST00000546160.1_Missense_Mutation_p.A52T	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.A52T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TGTCTGAAGGCGAGAGGGGGA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		16875	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											159	147	150					5																	59284433		1568	3582	5150	SO:0001583	missense	5144				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000502484.2:c.154G>A	5.37:g.59284433C>T	ENSP00000423094:p.Ala52Thr		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000502484.2	37	CCDS54859.1	.	.	.	.	.	.	.	.	.	.	C	36	5.722546	0.96847	.	.	ENSG00000113448	ENST00000502484;ENST00000546160;ENST00000505507;ENST00000514552	T;T	0.68331	-0.32;-0.32	5.71	5.71	0.89125	.	.	.	.	.	T	0.79879	0.4522	.	.	.	0.43857	D	0.996457	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.982	T	0.73547	-0.3948	8	0.19590	T	0.45	.	19.8467	0.96710	0.0:1.0:0.0:0.0	.	52;52	D6RIG1;Q08499-11	.;.	T	52	ENSP00000423094:A52T;ENSP00000442734:A52T	ENSP00000423094:A52T	A	-	1	0	PDE4D	59320190	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	6.632000	0.74281	2.696000	0.92011	0.585000	0.79938	GCC		0.483	PDE4D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368094.3			T	59284433	C	T	59284433	3	4	270	1	0	0	0	0	1	0	0	0	11644	768	27	1	2662	1	PDE4D	5	59284433	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10	18336596	59284433	121630827	23	16285											
SSBP2	23635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	80911317	80911317	+	Missense_Mutation	SNP	C	C	A	rs11555880		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:80911317C>A	ENST00000320672.4	-	4	467	c.257G>T	c.(256-258)aGt>aTt	p.S86I	SSBP2_ENST00000514493.1_Missense_Mutation_p.S86I|SSBP2_ENST00000505980.1_Missense_Mutation_p.S86I|SSBP2_ENST00000515395.1_Missense_Mutation_p.S86I|SSBP2_ENST00000509053.1_Missense_Mutation_p.S86I	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	86					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.S86I(1)	SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TTTTGCTTCACTTGAGTGTTC	0.343																																																1	Substitution - Missense(1)	kidney(1)											74	69	71					5																	80911317		2203	4300	6503	SO:0001583	missense	23635			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"single-stranded DNA-binding protein 2"			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.257G>T	5.37:g.80911317C>A	ENSP00000322977:p.Ser86Ile		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036533	0.93630	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000505980;ENST00000515395;ENST00000509013	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D	0.63880	0.99;0.96;0.993;0.959;0.99	D;P;D;P;P	0.67725	0.953;0.836;0.953;0.507;0.86	T	0.82080	-0.0634	9	0.87932	D	0	-6.5304	19.0507	0.93043	0.0:1.0:0.0:0.0	rs11555880	86;86;86;86;86	E9PDA8;E9PB74;B7Z1J2;B7Z665;P81877	.;.;.;.;SSBP2_HUMAN	I	86;86;86;39;86;86;82	.	ENSP00000322977:S86I	S	-	2	0	SSBP2	80947073	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.410000	0.80065	2.607000	0.88179	0.484000	0.47621	AGT		0.343	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		A	80911317	C	A	80911317	3	1	270	1	0	0	0	0	1	0	0	0	15185	565	20	4	884	4	SSBP2	5	80911317	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10	21626884	80911317	100003943	24	16286											
ANKHD1	54882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139866633	139866633	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:139866633G>A	ENST00000360839.2	+	14	2387	c.2233G>A	c.(2233-2235)Gga>Aga	p.G745R	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G745R|ANKHD1_ENST00000297183.6_Missense_Mutation_p.G745R	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	745						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.G745R(2)|p.G209R(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCTTTTAGGAGTGCAAAA	0.388																																																3	Substitution - Missense(3)	kidney(3)											67	62	64					5																	139866633		2203	4300	6503	SO:0001583	missense	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2233G>A	5.37:g.139866633G>A	ENSP00000354085:p.Gly745Arg		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411411	0.62399	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.66280	-0.03;-0.07;0.01;-0.2;-0.07	5.14	5.14	0.70334	Ankyrin repeat-containing domain (1);	0.333501	0.27664	N	0.018361	T	0.58949	0.2158	N	0.22421	0.69	0.42876	D	0.994159	P;D;P;P;P	0.71674	0.761;0.998;0.744;0.935;0.89	B;P;B;P;P	0.59703	0.24;0.862;0.289;0.465;0.465	T	0.52939	-0.8508	10	0.13853	T	0.58	.	11.2885	0.49237	0.0842:0.0:0.9157:0.0	.	209;745;764;745;745	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	R	745;778;745;745;279;209;764;151;745	ENSP00000354085:G745R;ENSP00000297183:G745R;ENSP00000394489:G764R;ENSP00000405602:G151R;ENSP00000432016:G745R	ENSP00000432016:G745R	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139846817	1.000000	0.71417	0.988000	0.46212	0.823000	0.46562	5.523000	0.67099	2.383000	0.81215	0.561000	0.74099	GGA		0.388	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		A	139866633	G	A	139866633	3	1	270	1	0	0	0	0	1	0	0	0	628	1001	35	2	2393	2	ANKHD1	5	139866633	Missense_Mutation	SNP	G	TCGA-B8-4154-01A-01D-1251-10	58955316	139866633	41048627	25	16287											
RIMS1	22999	hgsc.bcm.edu	37	6	73100387	73100388	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr6:73100387_73100388insG	ENST00000521978.1	+	30	4454_4455	c.4454_4455insG	c.(4453-4458)ccgagcfs	p.S1486fs	RIMS1_ENST00000425662.2_Frame_Shift_Ins_p.S554fs|RIMS1_ENST00000518273.1_Frame_Shift_Ins_p.S1165fs|RIMS1_ENST00000517960.1_Frame_Shift_Ins_p.S1269fs|RIMS1_ENST00000414192.2_Frame_Shift_Ins_p.S13fs|RIMS1_ENST00000522291.1_Frame_Shift_Ins_p.S1085fs|RIMS1_ENST00000520567.1_Frame_Shift_Ins_p.S1136fs|RIMS1_ENST00000401910.3_Frame_Shift_Ins_p.S806fs|RIMS1_ENST00000517827.1_Frame_Shift_Ins_p.S620fs|RIMS1_ENST00000538414.1_Frame_Shift_Ins_p.S292fs|RIMS1_ENST00000348717.5_Frame_Shift_Ins_p.S1269fs|RIMS1_ENST00000264839.7_Frame_Shift_Ins_p.S1335fs|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000491071.2_Frame_Shift_Ins_p.S1309fs|RIMS1_ENST00000523963.1_Frame_Shift_Ins_p.S611fs	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1486					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTAAGGCAGCCGAGCCGAGAGT	0.5																																																0																																										SO:0001589	frameshift_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4455dupG	6.37:g.73100388_73100388dupG	ENSP00000428417:p.Ser1486fs		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Frame_Shift_Ins	INS	ENST00000521978.1	37	CCDS47449.1																																																																																				0.5	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	73100388	-	G	73100387	7	5	270	1	0	1	1	0	0	0	0	0	13373	652	23	0	4735	0	RIMS1	6	73100387	Frame_Shift_Ins	INS	-	TCGA-B8-4154-01A-01D-1251-10		73100387	98014680	26	16288											
KIAA1244	57221	broad.mit.edu	37	6	138655319	138655319	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr6:138655319G>A	ENST00000251691.4	+	33	5502	c.5336G>A	c.(5335-5337)aGg>aAg	p.R1779K		NM_020340.4	NP_065073.3			KIAA1244									p.R1708K(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACTCTTATAGGACTGCCAGG	0.562																																																1	Substitution - Missense(1)	kidney(1)											33	35	35					6																	138655319		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5336G>A	6.37:g.138655319G>A	ENSP00000251691:p.Arg1779Lys			Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945719	0.73672	.	.	ENSG00000112379	ENST00000251691	T	0.17528	2.27	5.02	5.02	0.67125	.	0.264686	0.41712	D	0.000829	T	0.13841	0.0335	N	0.22421	0.69	0.50171	D	0.999855	D	0.64830	0.994	D	0.70716	0.97	T	0.01819	-1.1267	10	0.05959	T	0.93	-25.6408	18.3435	0.90313	0.0:0.0:1.0:0.0	.	1779	Q5TH69	BIG3_HUMAN	K	1779	ENSP00000251691:R1779K	ENSP00000251691:R1779K	R	+	2	0	KIAA1244	138697012	1.000000	0.71417	0.994000	0.49952	0.937000	0.57800	7.925000	0.87563	2.341000	0.79615	0.411000	0.27672	AGG		0.562	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138655319	G	A	138655319	3	1	270	1	0	0	0	0	1	0	0	0	8219	1000	35	2	5466	2	KIAA1244	6	138655319	Missense_Mutation	SNP	G	TCGA-B8-4154-01A-01D-1251-10	65554932	138655319	32459748	27	16289											
MGC87042	256227	broad.mit.edu;hgsc.bcm.edu	37	7	22534457	22534457	+	Missense_Mutation	SNP	G	G	T	rs543751768	byFrequency	TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr7:22534457G>T	ENST00000406890.2	-	2	112	c.18C>A	c.(16-18)gaC>gaA	p.D6E	STEAP1B_ENST00000404369.4_Missense_Mutation_p.D6E	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	6						integral component of membrane (GO:0016021)		p.D6E(2)		endometrium(1)|kidney(1)|lung(2)	4						GGTTTGTGATGTCTTTTCTGC	0.259																																																2	Substitution - Missense(2)	kidney(2)											128	105	112					7																	22534457		692	1590	2282	SO:0001583	missense	0				CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.18C>A	7.37:g.22534457G>T	ENSP00000385239:p.Asp6Glu		B5MCI2	Missense_Mutation	SNP	ENST00000406890.2	37	CCDS55094.1	.	.	.	.	.	.	.	.	.	.	g	10.28	1.307042	0.23821	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363;ENST00000439708	T;T;T;T	0.14766	2.48;2.77;2.85;2.64	1.6	-3.19	0.05171	.	.	.	.	.	T	0.12732	0.0309	M	0.73962	2.25	0.19300	N	0.99997	P;B	0.44429	0.835;0.189	B;B	0.35278	0.199;0.036	T	0.07501	-1.0769	9	0.72032	D	0.01	-0.944	6.1126	0.20110	0.6561:0.0:0.3439:0.0	.	6;6	B5MCI2;Q6NZ63	.;STEAL_HUMAN	E	6	ENSP00000385239:D6E;ENSP00000384370:D6E;ENSP00000416608:D6E;ENSP00000408954:D6E	ENSP00000384370:D6E	D	-	3	2	STEAP1B	22500982	0.665000	0.27466	0.716000	0.30569	0.171000	0.22731	-0.262000	0.08682	-0.852000	0.04141	-1.490000	0.00973	GAC		0.259	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326617.2			T	22534457	G	T	22534457	3	4	270	1	0	0	0	0	1	0	0	0	9556	1368	48	4	1063	4	MGC87042	7	22534457	Missense_Mutation	SNP	G	TCGA-B8-4154-01A-01D-1251-10		22534457	136604206	28	16290											
FAM200A	221786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99145313	99145313	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr7:99145313G>A	ENST00000449309.1	-	2	1097	c.718C>T	c.(718-720)Cac>Tac	p.H240Y		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	240						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.H240Y(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						ataaaacagtgattccaaaca	0.343																																																1	Substitution - Missense(1)	kidney(1)											82	85	84					7																	99145313		1553	2706	4259	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.718C>T	7.37:g.99145313G>A	ENSP00000411372:p.His240Tyr		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.588033	0.46110	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	D;D	0.84730	-1.89;-1.89	2.28	2.28	0.28536	Ribonuclease H-like (1);	0.000000	0.52532	D	0.000076	D	0.89801	0.6820	M	0.75777	2.31	0.22648	N	0.998898	D	0.89917	1.0	D	0.91635	0.999	T	0.79482	-0.1785	10	0.59425	D	0.04	.	8.1329	0.31037	0.0:0.0:1.0:0.0	.	240	Q8TCP9	F200A_HUMAN	Y	240	ENSP00000411372:H240Y;ENSP00000386191:H240Y	ENSP00000386191:H240Y	H	-	1	0	FAM200A	98983249	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	2.286000	0.43496	1.571000	0.49722	0.591000	0.81541	CAC		0.343	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		A	99145313	G	A	99145313	3	1	270	1	0	0	0	0	1	0	0	0	5538	1290	45	2	1007	2	FAM200A	7	99145313	Missense_Mutation	SNP	G	TCGA-B8-4154-01A-01D-1251-10	76610856	99145313	59993350	29	16291											
MRPL15	29088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	55049858	55049858	+	Silent	SNP	C	C	G			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr8:55049858C>G	ENST00000260102.4	+	3	368	c.294C>G	c.(292-294)ctC>ctG	p.L98L		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	98					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L98L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CTTTGAGTCTCAATAGACTGC	0.418																																																1	Substitution - coding silent(1)	kidney(1)											138	131	134					8																	55049858		2203	4300	6503	SO:0001819	synonymous_variant	29088			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.294C>G	8.37:g.55049858C>G			Q96Q54|Q9H0Y1	Silent	SNP	ENST00000260102.4	37	CCDS6158.1																																																																																				0.418	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		G	55049858	C	G	55049858	2	3	270	1	0	0	0	0	0	0	0	1	9782	813	29	4		4	MRPL15	8	55049858	Silent	SNP	C	TCGA-B8-4154-01A-01D-1251-10		55049858	91314164	30	16292											
KIAA1529	100499483	hgsc.bcm.edu	37	9	100092962	100092962	+	Silent	SNP	G	G	A	rs9697229		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr9:100092962G>A	ENST00000357054.1	+	32	3671	c.2736G>A	c.(2734-2736)aaG>aaA	p.K912K	CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.K773K|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Silent_p.K773K|CCDC180_ENST00000411667.2_Silent_p.K770K			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	912	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											aagatgagaaggaggaagagg	0.512																																																0													48	57	54					9																	100092962		2203	4299	6502	SO:0001819	synonymous_variant	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2736G>A	9.37:g.100092962G>A			Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																					0.512	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		A	100092962	G	A	100092962	2	1	270	1	0	0	0	0	0	0	0	1	8242	991	35	2		2	KIAA1529	9	100092962	Silent	SNP	G	TCGA-B8-4154-01A-01D-1251-10		100092962	41120469	31	16293											
ROD1	9991	broad.mit.edu;hgsc.bcm.edu	37	9	115038125	115038125	+	Splice_Site	SNP	T	T	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr9:115038125T>A	ENST00000374255.2	-	4	434	c.287A>T	c.(286-288)cAg>cTg	p.Q96L	PTBP3_ENST00000343327.2_Intron|PTBP3_ENST00000458258.1_Splice_Site_p.Q102L|PTBP3_ENST00000374257.1_Splice_Site_p.Q68L|PTBP3_ENST00000334318.6_Splice_Site_p.Q99L|PTBP3_ENST00000487997.1_Intron			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	96	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q96L(1)									ATTACATACCTGGCTTTTTCC	0.299																																																1	Substitution - Missense(1)	kidney(1)											71	71	71					9																	115038125		2203	4300	6503	SO:0001630	splice_region_variant	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.288+1A>T	9.37:g.115038125T>A			B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	ENST00000374255.2	37	CCDS6784.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678179	0.88542	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000210227	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.6	5.6	0.85130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.059792	0.64402	D	0.000002	D	0.90256	0.6953	H	0.94925	3.6	0.80722	D	1	D;D;B;D;D	0.55172	0.97;0.963;0.347;0.97;0.963	P;P;B;P;P	0.60068	0.861;0.868;0.069;0.861;0.845	D	0.92942	0.6373	10	0.87932	D	0	-2.9409	15.783	0.78275	0.0:0.0:0.0:1.0	.	68;68;99;96;102	B1ALY5;O95758-2;O95758-5;O95758;O95758-4	.;.;.;ROD1_HUMAN;.	L	68;99;102;96;102	ENSP00000363375:Q68L;ENSP00000334499:Q99L;ENSP00000414921:Q102L;ENSP00000363373:Q96L;ENSP00000210227:Q102L	ENSP00000210227:Q102L	Q	-	2	0	ROD1	114077946	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.673000	0.83973	2.125000	0.65367	0.482000	0.46254	CAG		0.299	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1		Missense_Mutation	A	115038125	T	A	115038125	5	1	270	1	0	0	0	0	0	0	1	0	13525	1594	55	5	1419	5	ROD1	9	115038125	Splice_Site	SNP	T	TCGA-B8-4154-01A-01D-1251-10	14945163	115038125	26175306	32	16294											
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12070760	12070760	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr10:12070760T>A	ENST00000356352.2	-	2	1602	c.1129A>T	c.(1129-1131)Act>Tct	p.T377S	UPF2_ENST00000357604.5_Missense_Mutation_p.T377S|UPF2_ENST00000397053.2_Missense_Mutation_p.T377S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	377	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.T377S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TGTCTCTCAGTATTCTGGAGC	0.373																																																1	Substitution - Missense(1)	kidney(1)											69	71	71					10																	12070760		2201	4299	6500	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1129A>T	10.37:g.12070760T>A	ENSP00000348708:p.Thr377Ser		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.830522	0.32329	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.41758	0.99;0.99;0.99	5.51	5.51	0.81932	MIF4G-like, type 3 (1);Armadillo-type fold (1);	0.107189	0.64402	D	0.000007	T	0.25269	0.0614	N	0.08118	0	0.35235	D	0.777231	B;B	0.23591	0.035;0.088	B;B	0.24006	0.03;0.05	T	0.27020	-1.0086	10	0.19147	T	0.46	.	15.9255	0.79611	0.0:0.0:0.0:1.0	.	347;377	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	S	377;377;347;377;347	ENSP00000348708:T377S;ENSP00000350221:T377S;ENSP00000380244:T377S	ENSP00000313617:T347S	T	-	1	0	UPF2	12110766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.012000	0.64017	2.221000	0.72209	0.528000	0.53228	ACT		0.373	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			A	12070760	T	A	12070760	3	1	270	1	0	0	0	0	1	0	0	0	17009	1638	57	5	2769	5	UPF2	10	12070760	Missense_Mutation	SNP	T	TCGA-B8-4154-01A-01D-1251-10		12070760	123463987	33	16295											
LIPK	643414	broad.mit.edu;hgsc.bcm.edu	37	10	90497391	90497391	+	Splice_Site	SNP	G	G	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr10:90497391G>T	ENST00000404190.1	+	6	669		c.e6-1			NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.?(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTATCTTGTAGGTGTTGTTTG	0.393																																																2	Unknown(2)	kidney(2)											227	203	211					10																	90497391		1869	4101	5970	SO:0001630	splice_region_variant	643414				CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"lipase-like, ab-hydrolase domain containing 2"	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.670-1G>T	10.37:g.90497391G>T			A7KIH8	Splice_Site	SNP	ENST00000404190.1	37	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977313	0.53720	.	.	ENSG00000204021	ENST00000404190	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8919	0.79305	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIPK	90487371	1.000000	0.71417	0.792000	0.32020	0.184000	0.23303	7.202000	0.77856	2.730000	0.93505	0.655000	0.94253	.		0.393	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222	Intron	T	90497391	G	T	90497391	5	4	270	1	0	0	0	0	0	0	1	0	8829	1014	35	4	691	4	LIPK	10	90497391	Splice_Site	SNP	G	TCGA-B8-4154-01A-01D-1251-10	78426631	90497391	45037356	34	16296											
MS4A12	54860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60264961	60264961	+	Missense_Mutation	SNP	C	C	T	rs148561730		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr11:60264961C>T	ENST00000016913.4	+	2	227	c.170C>T	c.(169-171)cCg>cTg	p.P57L	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.P57L	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	57						integral component of membrane (GO:0016021)		p.P57L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATCACATCTCCGGGAATCTTT	0.458																																																1	Substitution - Missense(1)	kidney(1)						C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	75	72	73		170,170	3	0	11	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MS4A12	NM_001164470.1,NM_017716.2	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	57/222,57/268	60264961	1,13005	2203	4300	6503	SO:0001583	missense	54860			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.170C>T	11.37:g.60264961C>T	ENSP00000016913:p.Pro57Leu		F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807914	0.50421	0.0	1.16E-4	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913;ENST00000530007	T;T;T;T	0.68331	1.43;0.53;2.79;-0.32	4.95	3.01	0.34805	.	10.686100	0.00166	N	0.000001	T	0.55433	0.1920	L	0.29908	0.895	0.09310	N	1	P;P	0.50710	0.938;0.865	B;B	0.39027	0.288;0.152	T	0.50303	-0.8844	10	0.59425	D	0.04	.	6.0934	0.20007	0.1859:0.7161:0.0:0.098	.	57;57	E9PNI3;Q9NXJ0	.;M4A12_HUMAN	L	57	ENSP00000440424:P57L;ENSP00000431959:P57L;ENSP00000016913:P57L;ENSP00000434783:P57L	ENSP00000016913:P57L	P	+	2	0	MS4A12	60021537	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.797000	0.38804	0.536000	0.28733	0.462000	0.41574	CCG		0.458	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			T	60264961	C	T	60264961	3	4	270	1	0	0	0	0	1	0	0	0	9858	652	23	1	172	1	MS4A12	11	60264961	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10		60264961	74741555	35	16297											
DAGLA	747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61504731	61504731	+	Silent	SNP	C	C	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr11:61504731C>T	ENST00000257215.5	+	14	1565	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	483					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.F483F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCCTCTCCTTCCTTCTGCGCC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											159	168	165					11																	61504731		2202	4299	6501	SO:0001819	synonymous_variant	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1449C>T	11.37:g.61504731C>T			A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	CCDS31578.1																																																																																				0.647	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		T	61504731	C	T	61504731	2	4	270	1	0	0	0	0	0	0	0	1	4228	854	30	2		2	DAGLA	11	61504731	Silent	SNP	C	TCGA-B8-4154-01A-01D-1251-10	1239770	61504731	73501785	36	16298											
EHD1	10938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64645686	64645686	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr11:64645686G>A	ENST00000320631.3	-	1	505	c.251C>T	c.(250-252)cCg>cTg	p.P84L	EHD1_ENST00000359393.2_Missense_Mutation_p.P84L	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	84	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)	p.P84L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GCGCATCCCCGGGAAGTCCTG	0.657																																																1	Substitution - Missense(1)	kidney(1)											128	95	106					11																	64645686		2201	4297	6498	SO:0001583	missense	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.251C>T	11.37:g.64645686G>A	ENSP00000320516:p.Pro84Leu		O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540620	0.85917	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000433803;ENST00000457202;ENST00000411683	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	3.64	3.64	0.41730	Dynamin, GTPase domain (1);	0.063221	0.64402	D	0.000005	D	0.96568	0.8880	L	0.60012	1.86	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.58077	0.832;0.832	D	0.96427	0.9316	10	0.62326	D	0.03	-42.1717	13.6262	0.62165	0.0:0.0:1.0:0.0	.	84;84	B2R5U3;Q9H4M9	.;EHD1_HUMAN	L	84;84;60;98;98;84;84	ENSP00000320516:P84L;ENSP00000352354:P84L;ENSP00000404944:P98L;ENSP00000399022:P84L;ENSP00000403830:P84L	ENSP00000320516:P84L	P	-	2	0	EHD1	64402262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	2.333000	0.79357	0.561000	0.74099	CCG		0.657	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		A	64645686	G	A	64645686	3	1	270	1	0	0	0	0	1	0	0	0	4979	1116	39	1	1373	1	EHD1	11	64645686	Missense_Mutation	SNP	G	TCGA-B8-4154-01A-01D-1251-10	3140955	64645686	70360830	37	16299											
EHBP1L1	254102	broad.mit.edu;ucsc.edu	37	11	65349886	65349886	+	Silent	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr11:65349886G>A	ENST00000309295.4	+	9	2008	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	581	Glu-rich.					membrane (GO:0016020)		p.V581V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTTGGAGGTGCTGGGAACCC	0.567																																																1	Substitution - coding silent(1)	kidney(1)											26	30	29					11																	65349886		1898	4124	6022	SO:0001819	synonymous_variant	254102			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1743G>A	11.37:g.65349886G>A			Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	CCDS44649.1																																																																																				0.567	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		A	65349886	G	A	65349886	2	1	270	1	0	0	0	0	0	0	0	1	4978	1306	46	2		2	EHBP1L1	11	65349886	Silent	SNP	G	TCGA-B8-4154-01A-01D-1251-10	704200	65349886	69656630	38	16300											
SYNE2	23224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64545255	64545255	+	Silent	SNP	G	G	C	rs369117320		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr14:64545255G>C	ENST00000344113.4	+	55	11306	c.11094G>C	c.(11092-11094)ggG>ggC	p.G3698G	SYNE2_ENST00000554584.1_Silent_p.G3731G|SYNE2_ENST00000555002.1_Silent_p.G332G|SYNE2_ENST00000358025.3_Silent_p.G3698G|SYNE2_ENST00000357395.3_Silent_p.G60G|SYNE2_ENST00000394768.2_Silent_p.G60G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3698					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.G3698G(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTAACAATGGGCTTCATAATG	0.343																																																1	Substitution - coding silent(1)	kidney(1)											85	85	85					14																	64545255		2203	4300	6503	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11094G>C	14.37:g.64545255G>C			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		C	64545255	G	C	64545255	2	2	270	1	0	0	0	0	0	0	0	1	15451	1190	42	4		4	SYNE2	14	64545255	Silent	SNP	G	TCGA-B8-4154-01A-01D-1251-10		64545255	42804285	39	16301											
ADAM21	8747	broad.mit.edu	37	14	70925981	70925981	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr14:70925981A>T	ENST00000603540.1	+	2	2023	c.1765A>T	c.(1765-1767)Acc>Tcc	p.T589S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.T589S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	589	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T589S(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAATGGTGTCACCTGCTGGGG	0.418																																																2	Substitution - Missense(2)	kidney(2)											103	99	100					14																	70925981		2203	4300	6503	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1765A>T	14.37:g.70925981A>T	ENSP00000474385:p.Thr589Ser		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	A	5.708	0.315227	0.10789	.	.	ENSG00000139985	ENST00000267499	T	0.22134	1.97	4.49	3.32	0.38043	ADAM, cysteine-rich (2);	0.546529	0.14901	U	0.291809	T	0.19525	0.0469	L	0.48986	1.54	0.09310	N	1	B	0.16603	0.018	B	0.27608	0.081	T	0.25257	-1.0137	10	0.25751	T	0.34	.	7.5007	0.27516	0.7125:0.1468:0.0:0.1407	.	589	Q9UKJ8	ADA21_HUMAN	S	589	ENSP00000267499:T589S	ENSP00000267499:T589S	T	+	1	0	ADAM21	69995734	0.000000	0.05858	1.000000	0.80357	0.555000	0.35460	0.277000	0.18734	0.830000	0.34757	0.460000	0.39030	ACC		0.418	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			T	70925981	A	T	70925981	3	4	270	1	0	0	0	0	1	0	0	0	243	159	6	5	1767	5	ADAM21	14	70925981	Missense_Mutation	SNP	A	TCGA-B8-4154-01A-01D-1251-10	6380726	70925981	36423559	40	16302											
C14orf166B	145497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77327095	77327095	+	Silent	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr14:77327095G>A	ENST00000393774.3	+	11	1288	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P		NM_194287.2	NP_919263.2												p.P388P(2)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CCGTTCACCCGCAGCTGGACG	0.537																																					Ovarian(165;1056 1958 32571 36789 48728)											2	Substitution - coding silent(2)	lung(1)|kidney(1)											121	125	123					14																	77327095		2088	4207	6295	SO:0001819	synonymous_variant	145497																														ENST00000393774.3:c.1164G>A	14.37:g.77327095G>A				Silent	SNP	ENST00000393774.3	37	CCDS9853.2																																																																																				0.537	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			A	77327095	G	A	77327095	2	1	270	1	0	0	0	0	0	0	0	1	1759	1074	38	1		1	C14orf166B	14	77327095	Silent	SNP	G	TCGA-B8-4154-01A-01D-1251-10	6401114	77327095	30022445	41	16303											
STRA6	64220	broad.mit.edu	37	15	74472524	74472524	+	Missense_Mutation	SNP	C	C	A	rs201627246		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr15:74472524C>A	ENST00000323940.5	-	19	2146	c.1901G>T	c.(1900-1902)cGc>cTc	p.R634L	RP11-665J16.1_ENST00000561647.1_RNA|STRA6_ENST00000416286.3_Missense_Mutation_p.R626L|STRA6_ENST00000449139.2_Missense_Mutation_p.R634L|STRA6_ENST00000423167.2_Missense_Mutation_p.R625L|STRA6_ENST00000563965.1_Missense_Mutation_p.R673L|STRA6_ENST00000574278.1_Missense_Mutation_p.R649L|STRA6_ENST00000535552.1_Missense_Mutation_p.R671L|STRA6_ENST00000395105.4_Missense_Mutation_p.R634L|STRA6_ENST00000574439.1_5'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	634					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)	p.R634L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						AGCCCTGCCGCGGCTGGCCCC	0.637																																																1	Substitution - Missense(1)	kidney(1)											91	105	100					15																	74472524		2198	4297	6495	SO:0001583	missense	64220			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"retinol binding protein 4 receptor"	610745	"stimulated by retinoic acid gene 6 homolog (mouse)", "stimulated by retinoic acid 6 homolog (mouse)"			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1901G>T	15.37:g.74472524C>A	ENSP00000326085:p.Arg634Leu		A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	C	6.881	0.531999	0.13127	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	4.5	-3.63	0.04529	.	0.757532	0.12544	N	0.459624	T	0.73869	0.3642	L	0.38838	1.175	0.09310	N	0.999997	B;B;B;B;B;P	0.43701	0.099;0.099;0.056;0.056;0.099;0.815	B;B;B;B;B;B	0.38985	0.035;0.035;0.024;0.024;0.035;0.287	T	0.64837	-0.6313	10	0.22109	T	0.4	-2.8476	11.4284	0.50025	0.0:0.4574:0.0:0.5426	.	671;672;625;634;673;443	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	L	634;634;566;443;673;625;671;524	ENSP00000378537:R634L;ENSP00000326085:R634L;ENSP00000413012:R625L;ENSP00000440238:R671L	ENSP00000326085:R634L	R	-	2	0	STRA6	72259577	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.009000	0.03660	-0.837000	0.04223	0.462000	0.41574	CGC		0.637	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			A	74472524	C	A	74472524	3	1	270	1	0	0	0	0	1	0	0	0	15327	768	27	4	106	4	STRA6	15	74472524	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10		74472524	28058868	42	16304											
MCTP2	55784	hgsc.bcm.edu;ucsc.edu	37	15	95013580	95013580	+	Frame_Shift_Del	DEL	C	C	-	rs375490719		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr15:95013580delC	ENST00000357742.4	+	20	2379	c.2379delC	c.(2377-2379)gtcfs	p.V793fs	MCTP2_ENST00000451018.3_Frame_Shift_Del_p.V738fs	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	793					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ACTGGACGGTCCCCTTCCTTT	0.403																																																0													179	173	175					15																	95013580		2197	4298	6495	SO:0001589	frameshift_variant	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2379delC	15.37:g.95013580delC	ENSP00000350377:p.Val793fs		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Frame_Shift_Del	DEL	ENST00000357742.4	37	CCDS32338.1																																																																																				0.403	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		-	95013580	C	-	95013580	7	5	270	1	0	1	0	1	0	0	0	0	9403	842	30	0	2533	0	MCTP2	15	95013580	Frame_Shift_Del	DEL	C	TCGA-B8-4154-01A-01D-1251-10	20541056	95013580	7517812	43	16305											
DPEP2	64174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68026474	68026474	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr16:68026474C>T	ENST00000572888.1	-	2	979	c.329G>A	c.(328-330)cGc>cAc	p.R110H	DPEP2_ENST00000412757.2_Missense_Mutation_p.R110H|DPEP2_ENST00000393847.1_Missense_Mutation_p.R110H			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	110					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.R110H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GCTGAAATTGCGCAGGTTAAC	0.587																																																1	Substitution - Missense(1)	kidney(1)											108	97	101					16																	68026474		2198	4300	6498	SO:0001583	missense	64174			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.329G>A	16.37:g.68026474C>T	ENSP00000458977:p.Arg110His		B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	8.983	0.975922	0.18736	.	.	ENSG00000167261	ENST00000393847;ENST00000412757	T;T	0.22336	1.96;1.96	3.69	-5.94	0.02247	.	0.656676	0.14730	N	0.301814	T	0.14830	0.0358	L	0.48986	1.54	0.19775	N	0.999959	B	0.09022	0.002	B	0.10450	0.005	T	0.12967	-1.0527	10	0.36615	T	0.2	-0.1142	8.5209	0.33275	0.1232:0.204:0.0:0.6729	.	110	Q9H4A9	DPEP2_HUMAN	H	110	ENSP00000377430:R110H;ENSP00000412549:R110H	ENSP00000377430:R110H	R	-	2	0	DPEP2	66583975	0.000000	0.05858	0.568000	0.28447	0.725000	0.41563	-2.589000	0.00900	-1.411000	0.02032	-1.036000	0.02392	CGC		0.587	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		T	68026474	C	T	68026474	3	4	270	1	0	0	0	0	1	0	0	0	4716	768	27	1	1167	1	DPEP2	16	68026474	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10		68026474	22328279	44	16306											
KIAA0174	9798	hgsc.bcm.edu	37	16	71956529	71956529	+	Silent	SNP	C	C	T	rs28701631	byFrequency	TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr16:71956529C>T	ENST00000378799.6	+	7	1061	c.705C>T	c.(703-705)ccC>ccT	p.P235P	IST1_ENST00000329908.8_Silent_p.P235P|IST1_ENST00000544564.1_Silent_p.P235P|IST1_ENST00000606369.1_Silent_p.P87P|IST1_ENST00000535424.1_Silent_p.P248P|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000378798.5_Silent_p.P235P|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Silent_p.P235P|IST1_ENST00000538850.1_Silent_p.P87P			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	233	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										tgcccatgcccatgcctatgc	0.483													C|||	230	0.0459265	0.0197	0.0274	5008	,	,		18639	0.0258		0.0427	False		,,,				2504	0.1186															0													101	73	83					16																	71956529		2198	4300	6498	SO:0001819	synonymous_variant	0			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.705C>T	16.37:g.71956529C>T			A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	37	CCDS59272.1	58	0.026556776556776556	9	0.018292682926829267	10	0.027624309392265192	25	0.043706293706293704	14	0.018469656992084433	C	6.629	0.484439	0.12641	.	.	ENSG00000182149	ENST00000541848	.	.	.	.	.	.	.	0.095345	0.85682	D	0.000000	T	0.22551	0.0544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12967	-1.0527	4	0.26408	T	0.33	-5.2082	.	.	.	rs28701631	.	.	.	L	122	.	ENSP00000437499:P122L	P	+	2	0	KIAA0174	70514030	0.004000	0.15560	0.997000	0.53966	0.971000	0.66376	-3.311000	0.00517	0.361000	0.24292	0.366000	0.22137	CCA		0.483	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		T	71956529	C	T	71956529	2	4	270	1	0	0	0	0	0	0	0	1	8160	581	21	2		2	KIAA0174	16	71956529	Silent	SNP	C	TCGA-B8-4154-01A-01D-1251-10	3930055	71956529	18398224	45	16307											
SMG6	23293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	2076117	2076117	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr17:2076117G>T	ENST00000263073.6	-	13	3242	c.3192C>A	c.(3190-3192)ttC>ttA	p.F1064L	SMG6_ENST00000544865.1_Missense_Mutation_p.F1033L|SMG6_ENST00000536871.2_Missense_Mutation_p.F156L|SMG6_ENST00000354901.4_Missense_Mutation_p.F156L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1064					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.F1064L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTATGTTACAGAAATCAGCCA	0.458																																					Melanoma(59;28 1088 11621 25887 46638 50814)											1	Substitution - Missense(1)	kidney(1)											107	87	94					17																	2076117		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3192C>A	17.37:g.2076117G>T	ENSP00000263073:p.Phe1064Leu		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	2.135	-0.398165	0.04865	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.15487	2.42;2.42;2.42	5.91	4.95	0.65309	.	0.204903	0.43416	D	0.000574	T	0.06645	0.0170	N	0.01529	-0.815	0.34161	D	0.668709	B	0.28667	0.219	B	0.30251	0.113	T	0.29852	-0.9998	10	0.14252	T	0.57	-7.153	13.1857	0.59680	0.0731:0.0:0.9269:0.0	.	1064	Q86US8	EST1A_HUMAN	L	1064;1033;156	ENSP00000263073:F1064L;ENSP00000443920:F1033L;ENSP00000440283:F156L	ENSP00000263073:F1064L	F	-	3	2	SMG6	2022867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.913000	0.39956	1.515000	0.48885	0.549000	0.68633	TTC		0.458	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			T	2076117	G	T	2076117	3	4	270	1	0	0	0	0	1	0	0	0	14803	933	33	4	1095	4	SMG6	17	2076117	Missense_Mutation	SNP	G	TCGA-B8-4154-01A-01D-1251-10		2076117	79119093	46	16308											
MYH3	4621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10551954	10551954	+	Missense_Mutation	SNP	C	C	T	rs558967135		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr17:10551954C>T	ENST00000583535.1	-	8	742	c.655G>A	c.(655-657)Gat>Aat	p.D219N	MYH3_ENST00000226209.7_Missense_Mutation_p.D219N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	219	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.D219N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATGATTTGATCTTCCAGAGTC	0.468																																																1	Substitution - Missense(1)	kidney(1)											105	104	104					17																	10551954		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.655G>A	17.37:g.10551954C>T	ENSP00000464317:p.Asp219Asn		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647391	0.87958	.	.	ENSG00000109063	ENST00000226209	T	0.72167	-0.63	4.64	4.64	0.57946	Myosin head, motor domain (2);	.	.	.	.	D	0.85470	0.5704	M	0.84326	2.69	0.49483	D	0.99979	D	0.89917	1.0	D	0.97110	1.0	D	0.87856	0.2661	9	0.87932	D	0	.	18.0353	0.89301	0.0:1.0:0.0:0.0	.	219	P11055	MYH3_HUMAN	N	219	ENSP00000226209:D219N	ENSP00000226209:D219N	D	-	1	0	MYH3	10492679	1.000000	0.71417	0.999000	0.59377	0.579000	0.36224	7.651000	0.83577	2.563000	0.86464	0.462000	0.41574	GAT		0.468	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		T	10551954	C	T	10551954	3	4	270	1	0	0	0	0	1	0	0	0	10038	913	32	2	5303	2	MYH3	17	10551954	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10	8475837	10551954	70643256	47	16309											
PSMC5	5705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61907491	61907491	+	Splice_Site	SNP	A	A	G			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr17:61907491A>G	ENST00000310144.6	+	5	572		c.e5-1		PSMC5_ENST00000581882.1_Splice_Site|FTSJ3_ENST00000580295.1_5'Flank|FTSJ3_ENST00000427159.2_5'Flank|PSMC5_ENST00000580864.1_Splice_Site|PSMC5_ENST00000375812.4_Splice_Site	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein 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)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TTGTTTCTTTAGGTACATCCT	0.458																																																1	Unknown(1)	kidney(1)											270	214	233					17																	61907491		2203	4300	6503	SO:0001630	splice_region_variant	5705			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.265-1A>G	17.37:g.61907491A>G			A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Splice_Site	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.284269	0.23392	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2819	0.60219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMC5	59261223	1.000000	0.71417	0.947000	0.38551	0.145000	0.21501	8.409000	0.90223	2.233000	0.73108	0.533000	0.62120	.		0.458	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	Intron	G	61907491	A	G	61907491	5	3	270	1	0	0	0	0	0	0	1	0	12695	434	15	3	281	3	PSMC5	17	61907491	Splice_Site	SNP	A	TCGA-B8-4154-01A-01D-1251-10	51355537	61907491	19287719	48	16310											
SETBP1	26040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	42530906	42530907	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr18:42530906_42530907GC>AA	ENST00000282030.5	+	4	1897_1898	c.1601_1602GC>AA	c.(1600-1602)tGC>tAA	p.C534*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	534						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C480*(1)|p.C534*(1)|p.C480Y(1)|p.C534Y(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGGTGGACTTGCAGCAAACCAA	0.515									Schinzel-Giedion syndrome																																							4	Substitution - Missense(2)|Substitution - Nonsense(2)	kidney(4)																																								SO:0001587	stop_gained	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	Exception_encountered	18.37:g.42530906_42530907delinsAA	ENSP00000282030:p.Cys534*		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2																																																																																				0.515	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		AA	42530907	GC	AA	42530906	4	1	270	1	0	0	0	0	0	1	0	0	14135	1319	46	2	1804	2	SETBP1	18	42530906	Nonsense_Mutation	DNP	GC	TCGA-B8-4154-01A-01D-1251-10		42530906	35546342	49	16311											
ZNF439	90594	broad.mit.edu;hgsc.bcm.edu	37	19	11979300	11979300	+	Silent	SNP	G	G	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr19:11979300G>T	ENST00000304030.2	+	3	1616	c.1416G>T	c.(1414-1416)ggG>ggT	p.G472G	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Silent_p.G336G	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G472G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AGAAATGTGGGAAAGCCTTCA	0.388																																																1	Substitution - coding silent(1)	kidney(1)											50	53	52					19																	11979300		2203	4300	6503	SO:0001819	synonymous_variant	90594			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1416G>T	19.37:g.11979300G>T			Q8IYZ7|Q96SU1	Silent	SNP	ENST00000304030.2	37	CCDS12268.1																																																																																				0.388	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			T	11979300	G	T	11979300	2	4	270	1	0	0	0	0	0	0	0	1	17916	1161	41	4		4	ZNF439	19	11979300	Silent	SNP	G	TCGA-B8-4154-01A-01D-1251-10		11979300	47149683	50	16312											
NLRP7	199713	hgsc.bcm.edu;ucsc.edu	37	19	55451609	55451609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr19:55451609delA	ENST00000590030.1	-	3	618	c.578delT	c.(577-579)ctgfs	p.L193fs	NLRP7_ENST00000340844.2_Frame_Shift_Del_p.L193fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.L221fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.L193fs|NLRP7_ENST00000592784.1_Frame_Shift_Del_p.L193fs|NLRP7_ENST00000588756.1_Frame_Shift_Del_p.L193fs|NLRP7_ENST00000448121.2_Frame_Shift_Del_p.L193fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	193	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTCCAGTCCAGCATACACTT	0.587																																																0													124	120	122					19																	55451609		2203	4300	6503	SO:0001589	frameshift_variant	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.578delT	19.37:g.55451609delA	ENSP00000465520:p.Leu193fs		E9PE16|Q32MH8|Q7RTR1	Frame_Shift_Del	DEL	ENST00000590030.1	37	CCDS33109.1																																																																																				0.587	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		-	55451609	A	-	55451609	7	5	270	1	0	1	0	1	0	0	0	0	10484	188	7	0	2567	0	NLRP7	19	55451609	Frame_Shift_Del	DEL	A	TCGA-B8-4154-01A-01D-1251-10	43472309	55451609	3677374	51	16313											
PHF20	51230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34515757	34515757	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr20:34515757A>T	ENST00000374012.3	+	14	2189	c.2060A>T	c.(2059-2061)aAt>aTt	p.N687I	PHF20_ENST00000439301.1_3'UTR|RNU6-937P_ENST00000384325.1_RNA			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	687					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.N687I(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CTGGAAGAAAATGTGCCCGAG	0.443																																																1	Substitution - Missense(1)	kidney(1)											156	151	153					20																	34515757		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2060A>T	20.37:g.34515757A>T	ENSP00000363124:p.Asn687Ile		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309024	0.81247	.	.	ENSG00000025293	ENST00000374012	D	0.84800	-1.9	5.91	4.82	0.62117	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.039460	0.85682	D	0.000000	D	0.90848	0.7125	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91473	0.5198	10	0.72032	D	0.01	.	11.4297	0.50032	0.9304:0.0:0.0696:0.0	.	687	Q9BVI0	PHF20_HUMAN	I	687	ENSP00000363124:N687I	ENSP00000363124:N687I	N	+	2	0	PHF20	33979171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.695000	0.61767	2.254000	0.74563	0.533000	0.62120	AAT		0.443	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		T	34515757	A	T	34515757	3	4	270	1	0	0	0	0	1	0	0	0	11833	101	4	5	2110	5	PHF20	20	34515757	Missense_Mutation	SNP	A	TCGA-B8-4154-01A-01D-1251-10		34515757	28509763	52	16314											
PHF8	23133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54019191	54019191	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chrX:54019191C>A	ENST00000357988.5	-	14	2174	c.1816G>T	c.(1816-1818)Gcc>Tcc	p.A606S	PHF8_ENST00000338154.6_Missense_Mutation_p.A570S|PHF8_ENST00000338946.6_Missense_Mutation_p.A469S|PHF8_ENST00000322659.8_Missense_Mutation_p.A570S	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	606					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.A570S(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ATCAATAGGGCCAATGGGCTC	0.507																																																2	Substitution - Missense(2)	kidney(2)											152	94	114					X																	54019191		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1816G>T	X.37:g.54019191C>A	ENSP00000350676:p.Ala606Ser		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	5.063|5.063|5.063	0.197305|0.197305|0.197305	0.09599|0.09599|0.09599	.|.|.	.|.|.	ENSG00000172943|ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000375189;ENST00000322659|ENST00000443302|ENST00000396282	T;T;T;T|.|.	0.21932|.|.	2.58;2.32;2.3;1.98|.|.	5.32|5.32|5.32	3.09|3.09|3.09	0.35607|0.35607|0.35607	.|.|.	0.315960|.|.	0.33057|.|.	N|.|.	0.005332|.|.	T|T|T	0.20981|0.20981|0.20981	0.0505|0.0505|0.0505	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.09310|0.09310|0.09310	N|N|N	0.999999|0.999999|0.999999	B;B;B;B;B|.|.	0.11235|.|.	0.004;0.0;0.001;0.002;0.001|.|.	B;B;B;B;B|.|.	0.06405|.|.	0.002;0.001;0.001;0.002;0.001|.|.	T|T|T	0.16837|0.16837|0.16837	-1.0389|-1.0389|-1.0389	10|5|5	0.12103|.|.	T|.|.	0.63|.|.	-2.374|-2.374|-2.374	3.2595|3.2595|3.2595	0.06844|0.06844|0.06844	0.2502:0.5825:0.0:0.1674|0.2502:0.5825:0.0:0.1674|0.2502:0.5825:0.0:0.1674	.|.|.	92;570;469;505;606|.|.	B3KMV4;Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.|.	.;.;.;.;PHF8_HUMAN|.|.	S|V|C	606;570;469;499;46;570|333|473	ENSP00000350676:A606S;ENSP00000338868:A570S;ENSP00000340051:A469S;ENSP00000319473:A570S|.|.	ENSP00000319473:A570S|.|.	A|G|W	-|-|-	1|2|3	0|0|0	PHF8|PHF8|PHF8	54035916|54035916|54035916	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.992000|0.992000|0.992000	0.48379|0.48379|0.48379	0.950000|0.950000|0.950000	0.60333|0.60333|0.60333	0.711000|0.711000|0.711000	0.25764|0.25764|0.25764	1.082000|1.082000|1.082000	0.41137|0.41137|0.41137	0.594000|0.594000|0.594000	0.82650|0.82650|0.82650	GCC|GGC|TGG		0.507	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		A	54019191	C	A	54019191	3	1	270	1	0	0	0	0	1	0	0	0	11842	739	26	4	1572	4	PHF8	23	54019191	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10		54019191	101251369	53	16315											
TMEM185A	84548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	148690436	148690436	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chrX:148690436C>A	ENST00000316916.8	-	3	605	c.301G>T	c.(301-303)Gtc>Ttc	p.V101F	TMEM185A_ENST00000536359.1_Missense_Mutation_p.V42F|TMEM185A_ENST00000507237.1_Missense_Mutation_p.V101F	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	101						dendrite (GO:0030425)|integral component of membrane (GO:0016021)		p.V101F(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGTCACAGACCAGAACTTCA	0.488																																																1	Substitution - Missense(1)	kidney(1)											177	159	165					X																	148690436		2202	4299	6501	SO:0001583	missense	84548			AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"chromosome X open reading frame 13", "family with sequence similarity 11, member A"	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.301G>T	X.37:g.148690436C>A	ENSP00000359449:p.Val101Phe		B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	CCDS14689.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.956400|4.956400	0.92726|0.92726	.|.	.|.	ENSG00000155984|ENSG00000155984	ENST00000316916;ENST00000536359;ENST00000507237;ENST00000511776|ENST00000502858	T;T;T;T|.	0.33216|.	1.42;1.42;1.42;1.42|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69187|0.69187	0.3083|0.3083	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D;P;D|.	0.67145|.	0.996;0.943;0.989|.	D;P;P|.	0.68621|.	0.959;0.59;0.868|.	T|T	0.66681|0.66681	-0.5862|-0.5862	10|5	0.48119|.	T|.	0.1|.	-18.0348|-18.0348	17.2137|17.2137	0.86937|0.86937	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	101;42;101|.	Q8NFB2;F5H5U0;E7EMM1|.	T185A_HUMAN;.;.|.	F|C	101;42;101;42|1	ENSP00000359449:V101F;ENSP00000443119:V42F;ENSP00000427766:V101F;ENSP00000428659:V42F|.	ENSP00000359449:V101F|.	V|W	-|-	1|3	0|0	TMEM185A|TMEM185A	148498232|148498232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.349000|7.349000	0.79376|0.79376	2.275000|2.275000	0.75901|0.75901	0.513000|0.513000	0.50165|0.50165	GTC|TGG		0.488	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508		A	148690436	C	A	148690436	3	1	270	1	0	0	0	0	1	0	0	0	16112	507	18	4	771	4	TMEM185A	23	148690436	Missense_Mutation	SNP	C	TCGA-B8-4154-01A-01D-1251-10	94671245	148690436	6580124	54	16316											
ATAD2B	54454	broad.mit.edu	37	2	23977134	23977134	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr2:23977134A>C	ENST00000238789.5	-	27	4593	c.4250T>G	c.(4249-4251)gTt>gGt	p.V1417G	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1417						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTGATCAACTGCCAGATT	0.318																																																0													41	38	39					2																	23977134		1831	4081	5912	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4250T>G	2.37:g.23977134A>C	ENSP00000238789:p.Val1417Gly		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.9|23.9	4.465478|4.465478	0.84425|0.84425	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.95622	.|-3.76	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.53938	.|D	.|0.000058	D|D	0.97303|0.97303	0.9118|0.9118	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.80764	.|0.987;0.994	D|D	0.98019|0.98019	1.0370|1.0370	5|10	.|0.87932	.|D	.|0	.|.	15.8632|15.8632	0.79040|0.79040	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1417;1412	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	V|G	693|1417;585	.|ENSP00000238789:V1417G	.|ENSP00000238789:V1417G	L|V	-|-	1|2	2|0	ATAD2B|ATAD2B	23830638|23830638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.631000|7.631000	0.83237|0.83237	2.212000|2.212000	0.71576|0.71576	0.533000|0.533000	0.62120|0.62120	TTG|GTT		0.318	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		C	23977134	A	C	23977134	3	2	271	1	0	0	0	0	1	0	0	0	1072	43	2	5	134	5	ATAD2B	2	23977134	Missense_Mutation	SNP	A	TCGA-B8-4619-01A-02D-1553-08		23977134	219222239	1	16317											
SAG	6295	broad.mit.edu	37	2	234237129	234237129	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr2:234237129C>T	ENST00000409110.1	+	8	748	c.518C>T	c.(517-519)tCc>tTc	p.S173F	SAG_ENST00000449594.2_Missense_Mutation_p.S39F	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	173					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CACAGGAGCTCCGTGCGATTA	0.587																																																0													158	138	144					2																	234237129		1982	4153	6135	SO:0001583	missense	6295				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.518C>T	2.37:g.234237129C>T	ENSP00000386444:p.Ser173Phe		A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198935	0.58126	.	.	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.19669	2.39;2.13	4.18	4.18	0.49190	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.055000	0.85682	D	0.000000	T	0.53367	0.1792	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.77004	0.885;0.989	T	0.65487	-0.6156	10	0.87932	D	0	-10.7322	17.0843	0.86606	0.0:1.0:0.0:0.0	.	39;173	B7Z7L5;P10523	.;ARRS_HUMAN	F	173;173;39	ENSP00000386444:S173F;ENSP00000392889:S39F	ENSP00000252857:S173F	S	+	2	0	SAG	233901868	1.000000	0.71417	0.994000	0.49952	0.006000	0.05464	4.747000	0.62141	2.337000	0.79520	0.650000	0.86243	TCC		0.587	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		T	234237129	C	T	234237129	3	4	271	1	0	0	0	0	1	0	0	0	13814	855	30	2	544	2	SAG	2	234237129	Missense_Mutation	SNP	C	TCGA-B8-4619-01A-02D-1553-08	210259995	234237129	8962244	2	16318											
GPX1	387	broad.mit.edu	37	3	49395503	49395503	+	IGR	SNP	C	C	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr3:49395503C>A	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.G70V|GPX1_ENST00000419783.1_Missense_Mutation_p.G70V	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CACCACCAGGCCCCGGGGTCC	0.697																																																0													12	16	15					3																	49395503		1862	4073	5935	SO:0001628	intergenic_variant	2876			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395503C>A			P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006075	0.93287	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.37058	3.13;1.22	5.88	5.0	0.66597	Thioredoxin-like fold (2);	0.055039	0.64402	D	0.000001	T	0.69260	0.3091	M	0.94142	3.5	0.80722	D	1	D;D	0.69078	0.997;0.989	D;D	0.67103	0.949;0.94	T	0.79813	-0.1645	10	0.87932	D	0	.	15.2504	0.73539	0.1414:0.8586:0.0:0.0	.	70;70	E9PAS1;P07203	.;GPX1_HUMAN	V	70	ENSP00000407375:G70V;ENSP00000391316:G70V	ENSP00000391316:G70V	G	-	2	0	GPX1	49370507	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	6.006000	0.70724	1.484000	0.48361	0.555000	0.69702	GGC		0.697	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		A	49395503	C	A	49395503	1	1	271	0	1	0	0	0	0	0	0	0	6741	739	26	4		4	GPX1	3	49395503	IGR	SNP	C	TCGA-B8-4619-01A-02D-1553-08		49395503	148626927	3	16319											
MAP1B	4131	broad.mit.edu	37	5	71499625	71499625	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr5:71499625G>A	ENST00000296755.7	+	6	7546	c.7248G>A	c.(7246-7248)atG>atA	p.M2416I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2416	Mediates interaction with TMEM185A.				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAGCAACATGCAGGTGAGAA	0.567																																					Melanoma(17;367 822 11631 31730 47712)											0													49	50	50					5																	71499625		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.7248G>A	5.37:g.71499625G>A	ENSP00000296755:p.Met2416Ile		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936534	0.73442	.	.	ENSG00000131711	ENST00000296755	T	0.03004	4.08	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.03263	0.0095	N	0.14661	0.345	0.47441	D	0.999427	P	0.39831	0.69	B	0.33454	0.164	T	0.56171	-0.8023	10	0.72032	D	0.01	-23.9743	19.0887	0.93217	0.0:0.0:1.0:0.0	.	2416	P46821	MAP1B_HUMAN	I	2416	ENSP00000296755:M2416I	ENSP00000296755:M2416I	M	+	3	0	MAP1B	71535381	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.372000	0.66156	2.826000	0.97356	0.655000	0.94253	ATG		0.567	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		A	71499625	G	A	71499625	3	1	271	1	0	0	0	0	1	0	0	0	9230	1319	46	2	7270	2	MAP1B	5	71499625	Missense_Mutation	SNP	G	TCGA-B8-4619-01A-02D-1553-08		71499625	109415635	4	16320											
GRK6	2870	broad.mit.edu	37	5	176857936	176857936	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr5:176857936T>C	ENST00000355472.5	+	2	284	c.116T>C	c.(115-117)aTc>aCc	p.I39T	GRK6_ENST00000507633.1_Missense_Mutation_p.I39T|GRK6_ENST00000528793.1_Missense_Mutation_p.I39T|GRK6_ENST00000393576.3_Missense_Mutation_p.I39T|GRK6_ENST00000355958.5_Missense_Mutation_p.I39T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	39	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCCTCACATCAGCCAGTGC	0.647																																																0													59	51	54					5																	176857936		2203	4300	6503	SO:0001583	missense	2870				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.116T>C	5.37:g.176857936T>C	ENSP00000347655:p.Ile39Thr		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568757	0.28003	.	.	ENSG00000198055	ENST00000502598;ENST00000506296;ENST00000511244;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793;ENST00000512684	T;T;T;T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26;4.26;4.26;4.26	4.83	4.83	0.62350	Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	M	0.77406	2.37	0.80722	D	1	B;B;B	0.32010	0.351;0.259;0.012	B;B;B	0.36289	0.187;0.221;0.008	T	0.03463	-1.1034	10	0.59425	D	0.04	-17.9949	14.3978	0.67022	0.0:0.0:0.0:1.0	.	39;39;39	P43250;P43250-2;D6RHX8	GRK6_HUMAN;.;.	T	7;7;7;39;39;39;39;39;7	ENSP00000422873:I7T;ENSP00000421055:I7T;ENSP00000425391:I7T;ENSP00000347655:I39T;ENSP00000427581:I39T;ENSP00000377204:I39T;ENSP00000348230:I39T;ENSP00000433511:I39T	ENSP00000347655:I39T	I	+	2	0	GRK6	176790542	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	6.148000	0.71788	1.794000	0.52575	0.379000	0.24179	ATC		0.647	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		C	176857936	T	C	176857936	3	2	271	1	0	0	0	0	1	0	0	0	6795	1435	50	3	122	3	GRK6	5	176857936	Missense_Mutation	SNP	T	TCGA-B8-4619-01A-02D-1553-08	105358311	176857936	4057324	5	16321											
PTPRZ1	5803	broad.mit.edu	37	7	121636616	121636616	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr7:121636616A>T	ENST00000393386.2	+	9	1520	c.1109A>T	c.(1108-1110)gAc>gTc	p.D370V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D370V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	370	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGCTATCAAGACTTGGTAACT	0.338																																																0													147	142	144					7																	121636616		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1109A>T	7.37:g.121636616A>T	ENSP00000377047:p.Asp370Val		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590909	0.86851	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.57595	0.39;0.39	5.89	5.89	0.94794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.64182	0.2575	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67385	-0.5684	10	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	370;370	C9JFM0;P23471	.;PTPRZ_HUMAN	V	370	ENSP00000377047:D370V;ENSP00000410000:D370V	ENSP00000377047:D370V	D	+	2	0	PTPRZ1	121423852	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.710000	0.91388	2.246000	0.74042	0.533000	0.62120	GAC		0.338	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121636616	A	T	121636616	3	4	271	1	0	0	0	0	1	0	0	0	12820	275	10	5	1143	5	PTPRZ1	7	121636616	Missense_Mutation	SNP	A	TCGA-B8-4619-01A-02D-1553-08		121636616	37502047	6	16322											
ACCN3	9311	broad.mit.edu	37	7	150746136	150746136	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr7:150746136C>A	ENST00000349064.5	+	1	362	c.164C>A	c.(163-165)aCc>aAc	p.T55N	ASIC3_ENST00000357922.4_Missense_Mutation_p.T55N|ASIC3_ENST00000297512.8_Missense_Mutation_p.T55N	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	55					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										TCAGTGGCCACCTTCCTCTAC	0.662																																																0													67	58	61					7																	150746136		2203	4300	6503	SO:0001583	missense	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.164C>A	7.37:g.150746136C>A	ENSP00000344838:p.Thr55Asn		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915977	0.52546	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.65178	-0.14;-0.14;-0.14	4.98	4.98	0.66077	.	0.770020	0.10446	U	0.673654	T	0.59004	0.2162	L	0.40543	1.245	0.27541	N	0.950802	P;B;P	0.40681	0.727;0.278;0.583	B;B;B	0.42692	0.395;0.306;0.36	T	0.55224	-0.8174	10	0.56958	D	0.05	-6.2697	11.9397	0.52894	0.0:0.8243:0.1757:0.0	.	55;55;55	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	N	55	ENSP00000350600:T55N;ENSP00000344838:T55N;ENSP00000297512:T55N	ENSP00000297512:T55N	T	+	2	0	ACCN3	150377069	0.065000	0.20965	0.990000	0.47175	0.819000	0.46315	1.088000	0.30877	2.480000	0.83734	0.462000	0.41574	ACC		0.662	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		A	150746136	C	A	150746136	3	1	271	1	0	0	0	0	1	0	0	0	130	507	18	4	166	4	ACCN3	7	150746136	Missense_Mutation	SNP	C	TCGA-B8-4619-01A-02D-1553-08	29109520	150746136	8392527	7	16323											
ZNF782	158431	broad.mit.edu	37	9	99581991	99581991	+	Frame_Shift_Del	DEL	A	A	-	rs202222530		TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr9:99581991delA	ENST00000481138.1	-	6	975	c.314delT	c.(313-315)ttafs	p.L105fs	ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATTGGTGAATAAAACTTGCAA	0.323																																																0																																										SO:0001589	frameshift_variant	158431			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.314delT	9.37:g.99581991delA	ENSP00000419397:p.Leu105fs		B2RNR0	Frame_Shift_Del	DEL	ENST00000481138.1	37	CCDS35075.1																																																																																				0.323	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		-	99581991	A	-	99581991	7	5	271	1	0	1	0	1	0	0	0	0	18160	372	13	0	1789	0	ZNF782	9	99581991	Frame_Shift_Del	DEL	A	TCGA-B8-4619-01A-02D-1553-08		99581991	41631440	8	16324											
GPR107	57720	broad.mit.edu	37	9	132890996	132890996	+	Silent	SNP	C	C	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr9:132890996C>T	ENST00000372406.1	+	19	2169	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	GPR107_ENST00000372410.3_Silent_p.Y525Y|GPR107_ENST00000347136.6_Silent_p.Y506Y	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	554						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				ATAACCCCTACCTACAACTTT	0.468																																																0													151	155	154					9																	132890996		2203	4300	6503	SO:0001819	synonymous_variant	57720			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1662C>T	9.37:g.132890996C>T			A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	ENST00000372406.1	37	CCDS48041.1																																																																																				0.468	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			T	132890996	C	T	132890996	2	4	271	1	0	0	0	0	0	0	0	1	6625	518	18	2		2	GPR107	9	132890996	Silent	SNP	C	TCGA-B8-4619-01A-02D-1553-08	33309005	132890996	8322435	9	16325											
OR51B4	79339	broad.mit.edu	37	11	5322806	5322806	+	Missense_Mutation	SNP	C	C	T	rs559479796		TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr11:5322806C>T	ENST00000380224.1	-	1	420	c.371G>A	c.(370-372)cGc>cAc	p.R124H	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	124					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)	p.R124H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGGTGTGCGGATGGCAAT	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22654	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	central_nervous_system(1)											184	173	177					11																	5322806		2201	4297	6498	SO:0001583	missense	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.371G>A	11.37:g.5322806C>T	ENSP00000369573:p.Arg124His		A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	C	4.901	0.167368	0.09339	.	.	ENSG00000183251	ENST00000380224	T	0.19806	2.12	4.71	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.466636	0.20302	N	0.095010	T	0.17662	0.0424	L	0.49126	1.545	0.09310	N	1	B	0.20988	0.05	B	0.15870	0.014	T	0.17137	-1.0379	10	0.49607	T	0.09	.	6.69	0.23165	0.0:0.6849:0.1473:0.1678	.	124	Q9Y5P0	O51B4_HUMAN	H	124	ENSP00000369573:R124H	ENSP00000369573:R124H	R	-	2	0	OR51B4	5279382	0.000000	0.05858	0.004000	0.12327	0.050000	0.14768	0.292000	0.19011	0.627000	0.30340	-0.736000	0.03550	CGC		0.453	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		T	5322806	C	T	5322806	3	4	271	1	0	0	0	0	1	0	0	0	11092	768	27	1	564	1	OR51B4	11	5322806	Missense_Mutation	SNP	C	TCGA-B8-4619-01A-02D-1553-08		5322806	129683710	10	16326											
ZNF214	7761	broad.mit.edu	37	11	7022784	7022784	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr11:7022784T>G	ENST00000278314.4	-	3	445	c.130A>C	c.(130-132)Aac>Cac	p.N44H	ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Missense_Mutation_p.N44H	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCATTCCAGTTTTCTAGAAAA	0.338																																					Ovarian(22;251 657 736 21522 46864)											0													30	36	34					11																	7022784		2145	4165	6310	SO:0001583	missense	7761			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.130A>C	11.37:g.7022784T>G	ENSP00000278314:p.Asn44His		B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	T	2.347	-0.349864	0.05173	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.00792	5.69;5.69	4.14	1.81	0.25067	Krueppel-associated box (3);	0.159642	0.29529	N	0.011883	T	0.00440	0.0014	N	0.08118	0	0.09310	N	0.999995	B	0.19200	0.034	B	0.12156	0.007	T	0.47071	-0.9145	10	0.13853	T	0.58	.	5.3724	0.16146	0.0:0.0997:0.1804:0.7198	.	44	Q9UL59	ZN214_HUMAN	H	44	ENSP00000278314:N44H;ENSP00000445373:N44H	ENSP00000278314:N44H	N	-	1	0	ZNF214	6979360	0.344000	0.24827	0.799000	0.32177	0.031000	0.12232	0.494000	0.22467	0.732000	0.32470	0.533000	0.62120	AAC		0.338	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			G	7022784	T	G	7022784	3	3	271	1	0	0	0	0	1	0	0	0	17775	1841	64	5	1694	5	ZNF214	11	7022784	Missense_Mutation	SNP	T	TCGA-B8-4619-01A-02D-1553-08	1699978	7022784	127983732	11	16327											
PYGM	5837	broad.mit.edu	37	11	64514806	64514806	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr11:64514806A>C	ENST00000164139.3	-	18	2600	c.2202T>G	c.(2200-2202)gaT>gaG	p.D734E	RASGRP2_ENST00000354024.3_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.D646E|RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000394430.1_5'Flank|RASGRP2_ENST00000377487.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	734					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGAATGCGATCGTAGTACT	0.552																																																0													139	114	122					11																	64514806		2201	4297	6498	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2202T>G	11.37:g.64514806A>C	ENSP00000164139:p.Asp734Glu		A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	A	5.470	0.271832	0.10349	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.92858	-2.99;-3.12	4.52	2.6	0.31112	.	0.000000	0.48767	D	0.000173	T	0.71837	0.3387	N	0.01446	-0.86	0.36449	D	0.865967	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.66052	-0.6019	10	0.02654	T	1	-27.5322	6.5476	0.22414	0.0981:0.3524:0.5496:0.0	.	646;734	A6NDY6;P11217	.;PYGM_HUMAN	E	646;734;715	ENSP00000366650:D646E;ENSP00000164139:D734E	ENSP00000164139:D734E	D	-	3	2	PYGM	64271382	1.000000	0.71417	0.972000	0.41901	0.806000	0.45545	1.021000	0.30040	0.515000	0.28320	-0.381000	0.06696	GAT		0.552	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		C	64514806	A	C	64514806	3	2	271	1	0	0	0	0	1	0	0	0	12868	330	12	5	338	5	PYGM	11	64514806	Missense_Mutation	SNP	A	TCGA-B8-4619-01A-02D-1553-08	57492022	64514806	70491710	12	16328											
RPH3A	22895	broad.mit.edu	37	12	113303233	113303233	+	Missense_Mutation	SNP	G	G	A	rs141736304		TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr12:113303233G>A	ENST00000389385.4	+	6	742	c.245G>A	c.(244-246)cGc>cAc	p.R82H	RPH3A_ENST00000543106.2_Missense_Mutation_p.R82H|RPH3A_ENST00000551052.1_Missense_Mutation_p.R78H|RPH3A_ENST00000548866.1_Missense_Mutation_p.R33H|RPH3A_ENST00000447659.2_Missense_Mutation_p.R33H|RPH3A_ENST00000415485.3_Missense_Mutation_p.R82H|RPH3A_ENST00000420983.2_Missense_Mutation_p.R82H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	82	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CTGGTGGACCGCCTAGAAAAC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19805	0.0		0.0	False		,,,				2504	0.001															0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	194	175	181		245,233	4.7	1	12	dbSNP_134	181	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	RPH3A	NM_001143854.1,NM_014954.3	29,29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	82/695,78/691	113303233	3,13003	2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.245G>A	12.37:g.113303233G>A	ENSP00000374036:p.Arg82His		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765225	0.90020	0.0	3.49E-4	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.61	4.72	0.59763	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.193307	0.36200	N	0.002739	T	0.72078	0.3416	M	0.75615	2.305	0.54753	D	0.999988	B;P;B;B	0.35944	0.14;0.529;0.185;0.154	B;B;B;B	0.24269	0.029;0.052;0.026;0.015	T	0.74237	-0.3730	10	0.72032	D	0.01	.	9.5359	0.39222	0.1613:0.0:0.8387:0.0	.	33;82;82;78	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	H	82;82;82;82;82;82;82;82;82;82;82;33;15;82;78;82;82;33;82	ENSP00000446570:R82H;ENSP00000449705:R82H;ENSP00000440384:R82H;ENSP00000446780:R82H;ENSP00000447306:R82H;ENSP00000446556:R82H;ENSP00000450382:R82H;ENSP00000449613:R82H;ENSP00000447505:R82H;ENSP00000449650:R82H;ENSP00000374036:R82H;ENSP00000413254:R33H;ENSP00000448100:R15H;ENSP00000447083:R82H;ENSP00000448297:R78H;ENSP00000405357:R82H;ENSP00000450216:R82H;ENSP00000450347:R33H;ENSP00000408889:R82H	ENSP00000374036:R82H	R	+	2	0	RPH3A	111787616	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	6.061000	0.71148	1.366000	0.46076	0.655000	0.94253	CGC		0.542	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		A	113303233	G	A	113303233	3	1	271	1	0	0	0	0	1	0	0	0	13557	1087	38	1	259	1	RPH3A	12	113303233	Missense_Mutation	SNP	G	TCGA-B8-4619-01A-02D-1553-08		113303233	20548662	13	16329											
TMEM132D	121256	broad.mit.edu	37	12	129558772	129558772	+	Missense_Mutation	SNP	G	G	C	rs190298747	byFrequency	TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr12:129558772G>C	ENST00000422113.2	-	9	3274	c.2948C>G	c.(2947-2949)tCg>tGg	p.S983W	TMEM132D_ENST00000389441.4_Missense_Mutation_p.S521W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	983					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTCATCTTGCGAGGAGGCAAA	0.493																																																0													116	103	107					12																	129558772		2203	4300	6503	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2948C>G	12.37:g.129558772G>C	ENSP00000408581:p.Ser983Trp		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555911	0.27827	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.10477	2.87;3.68	4.14	3.21	0.36854	.	0.425407	0.21729	N	0.069996	T	0.16385	0.0394	L	0.43152	1.355	0.09310	N	0.999999	D;D	0.64830	0.994;0.988	P;P	0.57009	0.763;0.811	T	0.04537	-1.0944	9	.	.	.	-15.4305	7.4084	0.27004	0.0:0.1343:0.5236:0.3421	.	983;521	Q14C87;Q14C87-2	T132D_HUMAN;.	W	521;983	ENSP00000374092:S521W;ENSP00000408581:S983W	.	S	-	2	0	TMEM132D	128124725	0.994000	0.37717	0.003000	0.11579	0.301000	0.27625	2.849000	0.48286	0.802000	0.34089	0.411000	0.27672	TCG		0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		C	129558772	G	C	129558772	3	2	271	1	0	0	0	0	1	0	0	0	16052	1059	37	4	355	4	TMEM132D	12	129558772	Missense_Mutation	SNP	G	TCGA-B8-4619-01A-02D-1553-08	16255539	129558772	4293123	14	16330											
CENPJ	55835	broad.mit.edu	37	13	25458475	25458475	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr13:25458475G>A	ENST00000381884.4	-	14	3789	c.3604C>T	c.(3604-3606)Cca>Tca	p.P1202S	CENPJ_ENST00000493190.1_5'Flank|CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1202					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTTGGTCTGGCATGACCTGC	0.453																																																0													130	114	119					13																	25458475		2203	4300	6503	SO:0001583	missense	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3604C>T	13.37:g.25458475G>A	ENSP00000371308:p.Pro1202Ser		Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612262	0.66672	.	.	ENSG00000151849	ENST00000381884	T	0.76060	-0.99	5.93	5.93	0.95920	.	0.170299	0.51477	D	0.000084	T	0.82208	0.4987	M	0.62016	1.91	0.80722	D	1	D	0.56521	0.976	P	0.62435	0.902	T	0.81172	-0.1054	10	0.44086	T	0.13	.	13.8105	0.63260	0.0:0.2568:0.7431:0.0	.	1202	Q9HC77	CENPJ_HUMAN	S	1202	ENSP00000371308:P1202S	ENSP00000371308:P1202S	P	-	1	0	CENPJ	24356475	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.363000	0.52321	2.815000	0.96918	0.561000	0.74099	CCA		0.453	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		A	25458475	G	A	25458475	3	1	271	1	0	0	0	0	1	0	0	0	3236	1203	42	2	428	2	CENPJ	13	25458475	Missense_Mutation	SNP	G	TCGA-B8-4619-01A-02D-1553-08		25458475	89711403	15	16331											
N4BP2L2	10443	broad.mit.edu	37	13	33110533	33110533	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr13:33110533T>C	ENST00000267068.3	-	2	796	c.632A>G	c.(631-633)aAt>aGt	p.N211S	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N211S|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	211					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GAGACCATTATTATGACCCTC	0.353																																																0													70	71	70					13																	33110533		2203	4299	6502	SO:0001583	missense	10443			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.632A>G	13.37:g.33110533T>C	ENSP00000267068:p.Asn211Ser		A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	9.572	1.121212	0.20877	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.41065	1.01;1.01;1.01	5.58	0.301	0.15781	.	.	.	.	.	T	0.33235	0.0856	L	0.55481	1.735	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.09377	0.004;0.001	T	0.34625	-0.9821	9	0.72032	D	0.01	-7.7112	3.7348	0.08507	0.2488:0.2738:0.0:0.4774	.	211;211	D6R968;Q92802	.;N42L2_HUMAN	S	211	ENSP00000394239:N211S;ENSP00000423362:N211S;ENSP00000267068:N211S	ENSP00000267068:N211S	N	-	2	0	N4BP2L2	32008533	0.000000	0.05858	0.000000	0.03702	0.689000	0.40095	-0.061000	0.11693	-0.143000	0.11334	0.460000	0.39030	AAT		0.353	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		C	33110533	T	C	33110533	3	2	271	1	0	0	0	0	1	0	0	0	10114	1493	52	3	3000	3	N4BP2L2	13	33110533	Missense_Mutation	SNP	T	TCGA-B8-4619-01A-02D-1553-08	7652058	33110533	82059345	16	16332											
SLC12A1	6557	broad.mit.edu	37	15	48559860	48559860	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr15:48559860G>A	ENST00000558405.1	+	17	2271	c.2257G>A	c.(2257-2259)Gca>Aca	p.A753T	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A753T|SLC12A1_ENST00000396577.3_Missense_Mutation_p.A753T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	753					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGCAGTGGCGGCAGACTGTTT	0.458																																																0													129	132	131					15																	48559860		2198	4297	6495	SO:0001583	missense	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2257G>A	15.37:g.48559860G>A	ENSP00000453409:p.Ala753Thr		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.155557|4.155557	0.78114|0.78114	.|.	.|.	ENSG00000074803|ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000546071|ENST00000428362	D;D|.	0.96041|.	-3.89;-3.89|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.163360|.	0.56097|.	D|.	0.000032|.	T|T	0.73705|0.73705	0.3621|0.3621	M|M	0.75447|0.75447	2.3|2.3	0.58432|0.58432	D|D	0.999995|0.999995	P;P|.	0.41748|.	0.594;0.761|.	B;P|.	0.45660|.	0.164;0.489|.	T|T	0.65932|0.65932	-0.6048|-0.6048	10|6	0.59425|0.09590	D|T	0.04|0.72	.|.	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	753;753|.	E9PDW4;Q13621|.	.;S12A1_HUMAN|.	T|D	753;753;147|565	ENSP00000370381:A753T;ENSP00000379822:A753T|.	ENSP00000370381:A753T|ENSP00000410367:G565D	A|G	+|+	1|2	0|0	SLC12A1|SLC12A1	46347152|46347152	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.954000|0.954000	0.61252|0.61252	5.068000|5.068000	0.64364|0.64364	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.458	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			A	48559860	G	A	48559860	3	1	271	1	0	0	0	0	1	0	0	0	14388	1203	42	2	2423	2	SLC12A1	15	48559860	Missense_Mutation	SNP	G	TCGA-B8-4619-01A-02D-1553-08		48559860	53971532	17	16333											
NEIL1	79661	broad.mit.edu	37	15	75647015	75647015	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr15:75647015G>A	ENST00000564784.1	+	10	1587	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	RP11-817O13.6_ENST00000563660.1_lincRNA|NEIL1_ENST00000569035.1_Missense_Mutation_p.A320T|NEIL1_ENST00000355059.4_Missense_Mutation_p.A320T|MIR631_ENST00000384904.1_RNA			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	320					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TCCAAGCAAGGCCCCTTCCAG	0.632								Base excision repair (BER), DNA glycosylases																																								0													48	52	50					15																	75647015		2197	4294	6491	SO:0001583	missense	79661			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.958G>A	15.37:g.75647015G>A	ENSP00000457352:p.Ala320Thr		D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	ENST00000564784.1	37	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331934	0.24167	.	.	ENSG00000140398	ENST00000355059	T	0.13089	2.62	3.65	0.591	0.17465	.	0.942829	0.08950	N	0.870319	T	0.11153	0.0272	L	0.50333	1.59	0.09310	N	1	B	0.15930	0.015	B	0.11329	0.006	T	0.40459	-0.9562	10	0.25106	T	0.35	-3.3838	2.9496	0.05858	0.2423:0.0:0.5311:0.2266	.	320	Q96FI4	NEIL1_HUMAN	T	320	ENSP00000347170:A320T	ENSP00000347170:A320T	A	+	1	0	NEIL1	73434068	0.000000	0.05858	0.019000	0.16419	0.019000	0.09904	-0.608000	0.05641	0.144000	0.18951	-0.266000	0.10368	GCC		0.632	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		A	75647015	G	A	75647015	3	1	271	1	0	0	0	0	1	0	0	0	10320	1203	42	2	988	2	NEIL1	15	75647015	Missense_Mutation	SNP	G	TCGA-B8-4619-01A-02D-1553-08	27087155	75647015	26884377	18	16334											
SLC12A4	6560	broad.mit.edu	37	16	67985066	67985066	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr16:67985066C>T	ENST00000316341.3	-	9	1414	c.1274G>A	c.(1273-1275)gGc>gAc	p.G425D	SLC12A4_ENST00000422611.2_Missense_Mutation_p.G427D|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G425D|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G419D|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G425D|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G377D|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G394D|SLC12A4_ENST00000572010.1_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	425					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAAGAAGATGCCGACCAGCAC	0.622																																																0													172	150	158					16																	67985066		2198	4300	6498	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1274G>A	16.37:g.67985066C>T	ENSP00000318557:p.Gly425Asp		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883547	0.91740	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07	5.11	5.11	0.69529	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.95328	3.655	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.97110	0.975;0.991;1.0;0.984;0.984;0.991	D	0.98425	1.0579	10	0.87932	D	0	.	18.8996	0.92437	0.0:1.0:0.0:0.0	.	427;425;394;419;425;425	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	D	427;394;419;425;425	ENSP00000395983:G427D;ENSP00000438334:G394D;ENSP00000445962:G419D;ENSP00000343374:G425D;ENSP00000318557:G425D	ENSP00000318557:G425D	G	-	2	0	SLC12A4	66542567	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.758000	0.85224	2.541000	0.85698	0.561000	0.74099	GGC		0.622	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		T	67985066	C	T	67985066	3	4	271	1	0	0	0	0	1	0	0	0	14391	739	26	2	2047	2	SLC12A4	16	67985066	Missense_Mutation	SNP	C	TCGA-B8-4619-01A-02D-1553-08		67985066	22369687	19	16335											
AZI1	22994	broad.mit.edu	37	17	79180662	79180662	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr17:79180662G>A	ENST00000269392.4	-	5	644	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	AZI1_ENST00000575907.1_Missense_Mutation_p.P133S|AZI1_ENST00000450824.2_Missense_Mutation_p.P133S|AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000374782.3_Missense_Mutation_p.P133S	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		133					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAGCCCCGGGGCTGGTCATCC	0.652																																																0													53	62	59					17																	79180662		2203	4300	6503	SO:0001583	missense	22994																														ENST00000269392.4:c.397C>T	17.37:g.79180662G>A	ENSP00000269392:p.Pro133Ser		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37		.	.	.	.	.	.	.	.	.	.	g	19.78	3.891371	0.72524	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.18810	2.23;2.19;2.24	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.68952	2.095	0.47476	D	0.999439	P;P;D;D	0.89917	0.661;0.661;0.964;1.0	P;P;P;D	0.87578	0.508;0.508;0.851;0.998	T	0.46048	-0.9219	10	0.87932	D	0	-27.0548	15.6323	0.76920	0.0:0.0:1.0:0.0	.	133;133;133;133	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	S	133	ENSP00000393583:P133S;ENSP00000363914:P133S;ENSP00000269392:P133S	ENSP00000269392:P133S	P	-	1	0	AZI1	76795257	1.000000	0.71417	0.944000	0.38274	0.633000	0.38033	6.189000	0.72051	2.365000	0.80145	0.384000	0.25694	CCC		0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			A	79180662	G	A	79180662	3	1	271	1	0	0	0	0	1	0	0	0	1240	1203	42	2	2933	2	AZI1	17	79180662	Missense_Mutation	SNP	G	TCGA-B8-4619-01A-02D-1553-08		79180662	2014548	20	16336											
ZNF320	162967	broad.mit.edu	37	19	53384636	53384636	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr19:53384636T>C	ENST00000595635.1	-	8	1244	c.743A>G	c.(742-744)aAt>aGt	p.N248S	ZNF320_ENST00000391781.2_Missense_Mutation_p.N248S|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GCCACACTCATTACACTTATA	0.393																																																0													134	121	125					19																	53384636		2203	4300	6503	SO:0001583	missense	162967			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.743A>G	19.37:g.53384636T>C	ENSP00000473091:p.Asn248Ser		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	9.008	0.981840	0.18812	.	.	ENSG00000182986	ENST00000391781	T	0.16324	2.35	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	N	0.02011	-0.69	0.09310	N	1	P	0.36086	0.536	B	0.43445	0.42	T	0.27123	-1.0083	9	0.41790	T	0.15	.	5.2262	0.15396	0.2575:0.0:0.0:0.7425	.	248	A2RRD8	ZN320_HUMAN	S	248	ENSP00000375660:N248S	ENSP00000375660:N248S	N	-	2	0	ZNF320	58076448	0.000000	0.05858	0.005000	0.12908	0.169000	0.22640	-4.180000	0.00279	0.792000	0.33850	0.155000	0.16302	AAT		0.393	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		C	53384636	T	C	53384636	3	2	271	1	0	0	0	0	1	0	0	0	17844	1493	52	3	790	3	ZNF320	19	53384636	Missense_Mutation	SNP	T	TCGA-B8-4619-01A-02D-1553-08		53384636	5744347	21	16337											
TGM6	343641	broad.mit.edu	37	20	2411617	2411617	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr20:2411617G>T	ENST00000202625.2	+	12	1972	c.1911G>T	c.(1909-1911)aaG>aaT	p.K637N	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	637					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGAGAGTGAAGGACTGTGCGC	0.597																																																0													149	124	132					20																	2411617		2203	4300	6503	SO:0001583	missense	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1911G>T	20.37:g.2411617G>T	ENSP00000202625:p.Lys637Asn		Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394812	0.25205	.	.	ENSG00000166948	ENST00000202625	T	0.69926	-0.44	5.24	0.829	0.18847	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.756370	0.12934	N	0.427115	T	0.47838	0.1467	L	0.36672	1.1	0.58432	D	0.999997	B	0.28470	0.213	B	0.25506	0.061	T	0.28267	-1.0049	10	0.25106	T	0.35	-5.8764	3.507	0.07695	0.2853:0.0:0.5264:0.1883	.	637	O95932	TGM3L_HUMAN	N	637	ENSP00000202625:K637N	ENSP00000202625:K637N	K	+	3	2	TGM6	2359617	0.077000	0.21312	0.766000	0.31476	0.701000	0.40568	0.028000	0.13644	0.370000	0.24538	0.655000	0.94253	AAG		0.597	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		T	2411617	G	T	2411617	3	4	271	1	0	0	0	0	1	0	0	0	15839	991	35	4	1957	4	TGM6	20	2411617	Missense_Mutation	SNP	G	TCGA-B8-4619-01A-02D-1553-08		2411617	60613903	22	16338											
RRBP1	6238	broad.mit.edu	37	20	17641122	17641122	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr20:17641122C>T	ENST00000377813.1	-	3	334	c.31G>A	c.(31-33)Gtt>Att	p.V11I	RRBP1_ENST00000377807.2_Missense_Mutation_p.V11I|RRBP1_ENST00000360807.4_Missense_Mutation_p.V11I|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.V11I			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	11					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AAGACCACAACCCCCAAGGTT	0.438																																																0													83	81	82					20																	17641122		2203	4300	6503	SO:0001583	missense	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.31G>A	20.37:g.17641122C>T	ENSP00000367044:p.Val11Ile		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	15.67	2.902920	0.52227	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000398782	T;T;T;T	0.29655	1.56;2.07;1.56;2.07	4.54	4.54	0.55810	.	0.000000	0.29594	N	0.011715	T	0.17746	0.0426	N	0.08118	0	0.80722	D	1	B	0.29988	0.264	B	0.21151	0.033	T	0.10567	-1.0624	10	0.62326	D	0.03	-12.5258	16.6221	0.84933	0.0:1.0:0.0:0.0	.	11	Q9P2E9-3	.	I	11	ENSP00000354045:V11I;ENSP00000367044:V11I;ENSP00000367038:V11I;ENSP00000246043:V11I	ENSP00000246043:V11I	V	-	1	0	RRBP1	17589122	0.991000	0.36638	0.988000	0.46212	0.902000	0.53008	2.530000	0.45641	2.247000	0.74100	0.655000	0.94253	GTT		0.438	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		T	17641122	C	T	17641122	3	4	271	1	0	0	0	0	1	0	0	0	13684	507	18	2	2998	2	RRBP1	20	17641122	Missense_Mutation	SNP	C	TCGA-B8-4619-01A-02D-1553-08	15229505	17641122	45384398	23	16339											
CTCFL	140690	broad.mit.edu	37	20	56093824	56093824	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4619-01A-02D-1553-08	TCGA-B8-4619-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e16d8c96-e679-4c87-ad6d-5e58d6a9d267	4c1d2f74-ab88-4783-ae81-e99a218211c7	g.chr20:56093824G>A	ENST00000608263.1	-	4	1710	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	CTCFL_ENST00000608425.1_Missense_Mutation_p.A350V|CTCFL_ENST00000609232.1_Missense_Mutation_p.A350V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000481655.2_Missense_Mutation_p.A350V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V|CTCFL_ENST00000608440.1_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.3_Missense_Mutation_p.A350V|CTCFL_ENST00000608903.1_Missense_Mutation_p.A88V|CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000608158.1_Missense_Mutation_p.A350V|CTCFL_ENST00000433949.3_Missense_Mutation_p.A145V|CTCFL_ENST00000423479.3_Missense_Mutation_p.A350V|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	350					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCCACACTGGCATACTTGCA	0.443																																																0													193	180	184					20																	56093824		2203	4300	6503	SO:0001583	missense	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1049C>T	20.37:g.56093824G>A	ENSP00000476783:p.Ala350Val		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384711	0.82792	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.19105	3.12;3.12;3.12;2.17;3.12;3.12;2.17;3.12;2.17;3.12;3.12	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000902	T	0.39064	0.1064	L	0.41632	1.29	0.42331	D	0.992293	D;D;P;D;D;P;D;D	0.89917	1.0;0.994;0.89;1.0;0.999;0.94;0.999;0.999	D;D;P;D;D;P;D;D	0.87578	0.989;0.963;0.758;0.998;0.985;0.897;0.985;0.985	T	0.25847	-1.0120	10	0.72032	D	0.01	-29.0302	16.9368	0.86205	0.0:0.0:1.0:0.0	.	350;350;350;350;350;350;350;350	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	V	350;350;350;350;350;88;350;350;350;145;350	ENSP00000415579:A350V;ENSP00000243914:A350V;ENSP00000360239:A350V;ENSP00000415329:A350V;ENSP00000392034:A350V;ENSP00000437999:A88V;ENSP00000413713:A350V;ENSP00000403369:A350V;ENSP00000409344:A350V;ENSP00000439998:A145V;ENSP00000399061:A350V	ENSP00000243914:A350V	A	-	2	0	CTCFL	55527230	1.000000	0.71417	0.386000	0.26170	0.637000	0.38172	5.077000	0.64419	2.346000	0.79739	0.591000	0.81541	GCC		0.443	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		A	56093824	G	A	56093824	3	1	271	1	0	0	0	0	1	0	0	0	4003	1203	42	2	970	2	CTCFL	20	56093824	Missense_Mutation	SNP	G	TCGA-B8-4619-01A-02D-1553-08	38452702	56093824	6931696	24	16340											
TP73	7161	hgsc.bcm.edu	37	1	3645988	3645989	+	Frame_Shift_Ins	INS	-	-	G	rs61736049|rs530995550	byFrequency	TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr1:3645988_3645989insG	ENST00000378295.4	+	10	1327_1328	c.1172_1173insG	c.(1171-1176)cagcagfs	p.Q392fs	TP73_ENST00000378285.1_Frame_Shift_Ins_p.Q343fs|TP73_ENST00000603362.1_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000604479.1_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000357733.3_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000354437.4_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000346387.4_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000604074.1_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000378288.4_Frame_Shift_Ins_p.Q343fs|TP73_ENST00000378290.4_Frame_Shift_Ins_p.Q321fs|TP73_ENST00000378280.1_Frame_Shift_Ins_p.Q343fs	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	392	Poly-Gln.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q391R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TCCTATCGGCAGCAGCAGCAGC	0.609																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.1173dupG	1.37:g.3645989_3645989dupG	ENSP00000367545:p.Gln392fs		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Frame_Shift_Ins	INS	ENST00000378295.4	37	CCDS49.1																																																																																				0.609	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		G	3645989	-	G	3645988	7	5	272	1	0	1	1	0	0	0	0	0	16398	188	7	0	1249	0	TP73	1	3645988	Frame_Shift_Ins	INS	-	TCGA-B8-4620-01A-01D-1553-08		3645988	245604633	1	16341											
LIN28A	79727	broad.mit.edu	37	1	26737960	26737960	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr1:26737960C>T	ENST00000326279.6	+	2	229	c.115C>T	c.(115-117)Cac>Tac	p.H39Y	LIN28A_ENST00000254231.4_Missense_Mutation_p.H39Y	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	39	CSD.				germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TCAGCTGCTGCACGGTGCGGG	0.721																																																0													24	28	26					1																	26737960		2200	4298	6498	SO:0001583	missense	79727			AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"Zinc fingers, CCHC domain containing"	15986	protein-coding gene	gene with protein product		611043	"lin-28 homolog (C. elegans)"	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.115C>T	1.37:g.26737960C>T	ENSP00000363314:p.His39Tyr			Missense_Mutation	SNP	ENST00000326279.6	37	CCDS280.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469821	0.43839	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.43294	0.95;0.95	5.95	5.95	0.96441	Nucleic acid-binding, OB-fold-like (1);	0.064055	0.64402	D	0.000013	T	0.28863	0.0716	N	0.14661	0.345	0.35086	D	0.763851	D	0.54207	0.965	B	0.37833	0.259	T	0.42137	-0.9469	10	0.59425	D	0.04	.	19.0218	0.92919	0.0:1.0:0.0:0.0	.	39	Q9H9Z2	LN28A_HUMAN	Y	39	ENSP00000363314:H39Y;ENSP00000254231:H39Y	ENSP00000254231:H39Y	H	+	1	0	LIN28A	26610547	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	5.102000	0.64572	2.835000	0.97688	0.650000	0.86243	CAC		0.721	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009891.2	NM_024674		T	26737960	C	T	26737960	3	4	272	1	0	0	0	0	1	0	0	0	8807	710	25	2	121	2	LIN28A	1	26737960	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-01D-1553-08	23091972	26737960	222512661	2	16342											
HIST2H3D	653604	broad.mit.edu;hgsc.bcm.edu	37	1	149785229	149785229	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr1:149785229C>T	ENST00000331491.1	-	1	7	c.8G>A	c.(7-9)cGt>cAt	p.R3H	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	3					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CTGCTTAGTACGGGCCATGCT	0.572																																																0													31	32	32					1																	149785229		1565	3566	5131	SO:0001583	missense	653604			AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"Histones / Replication-dependent"	25311	protein-coding gene	gene with protein product			"histone 2, H3d"				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.8G>A	1.37:g.149785229C>T	ENSP00000333277:p.Arg3His		A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046860	0.75846	.	.	ENSG00000183598	ENST00000331491	T	0.46819	0.86	4.13	4.13	0.48395	.	0.000000	0.51477	U	0.000086	T	0.54983	0.1892	.	.	.	0.49051	D	0.999747	.	.	.	.	.	.	T	0.60525	-0.7246	7	0.62326	D	0.03	.	15.4963	0.75653	0.0:1.0:0.0:0.0	.	.	.	.	H	3	ENSP00000333277:R3H	ENSP00000333277:R3H	R	-	2	0	HIST2H3D	148051853	0.037000	0.19845	0.176000	0.23000	0.169000	0.22640	2.716000	0.47219	2.302000	0.77476	0.436000	0.28706	CGT		0.572	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		T	149785229	C	T	149785229	3	4	272	1	0	0	0	0	1	0	0	0	7183	536	19	1	404	1	HIST2H3D	1	149785229	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-01D-1553-08	123047269	149785229	99465392	3	16343											
KCNF1	3754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11053935	11053935	+	Silent	SNP	G	G	A			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr2:11053935G>A	ENST00000295082.1	+	1	1873	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	461					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGAAGGAGGCGCCGAGCTGCA	0.662																																																0													16	22	20					2																	11053935		2200	4290	6490	SO:0001819	synonymous_variant	3754			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1383G>A	2.37:g.11053935G>A			O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	CCDS1676.1																																																																																				0.662	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		A	11053935	G	A	11053935	2	1	272	1	0	0	0	0	0	0	0	1	8028	1074	38	1		1	KCNF1	2	11053935	Silent	SNP	G	TCGA-B8-4620-01A-01D-1553-08		11053935	232145438	4	16344											
ASTL	431705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	96789912	96789912	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr2:96789912G>T	ENST00000342380.2	-	9	972	c.973C>A	c.(973-975)Ccc>Acc	p.P325T		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GAACCACTGGGGTCGGGGCTC	0.672																																																0													23	28	26					2																	96789912		2199	4290	6489	SO:0001583	missense	431705			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.973C>A	2.37:g.96789912G>T	ENSP00000343674:p.Pro325Thr			Missense_Mutation	SNP	ENST00000342380.2	37	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457817	0.26161	.	.	ENSG00000188886	ENST00000342380	T	0.71222	-0.55	4.41	2.55	0.30701	.	0.533769	0.14188	N	0.335558	T	0.54711	0.1875	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.14578	0.011	T	0.48581	-0.9023	10	0.62326	D	0.03	0.1193	5.5058	0.16854	0.1059:0.0:0.6974:0.1967	.	325	Q6HA08	ASTL_HUMAN	T	325	ENSP00000343674:P325T	ENSP00000343674:P325T	P	-	1	0	ASTL	96153639	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	-0.309000	0.08145	0.407000	0.25591	0.306000	0.20318	CCC		0.672	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			T	96789912	G	T	96789912	3	4	272	1	0	0	0	0	1	0	0	0	1063	1232	43	4	325	4	ASTL	2	96789912	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-01D-1553-08	85735977	96789912	146409461	5	16345											
TGFBRAP1	9392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	105886106	105886106	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr2:105886106C>A	ENST00000393359.2	-	11	2455	c.2029G>T	c.(2029-2031)Ggc>Tgc	p.G677C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G677C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	677					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCATGCTCGCCCAGCTTCCCG	0.647																																					Esophageal Squamous(183;794 2019 9730 21801 48859)											0													24	24	24					2																	105886106		2203	4300	6503	SO:0001583	missense	9392			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2029G>T	2.37:g.105886106C>A	ENSP00000377027:p.Gly677Cys		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082580	0.76528	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.21932	1.98;1.98	5.54	4.64	0.57946	.	0.050983	0.85682	D	0.000000	T	0.49029	0.1533	M	0.81497	2.545	0.43421	D	0.995577	D;P	0.76494	0.999;0.732	D;P	0.71870	0.975;0.794	T	0.57021	-0.7882	10	0.72032	D	0.01	-18.1673	16.2274	0.82306	0.0:0.8668:0.1332:0.0	.	132;677	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	C	677;677;132	ENSP00000377027:G677C;ENSP00000258449:G677C	ENSP00000258449:G677C	G	-	1	0	TGFBRAP1	105252538	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.487000	0.81328	1.305000	0.44909	0.462000	0.41574	GGC		0.647	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		A	105886106	C	A	105886106	3	1	272	1	0	0	0	0	1	0	0	0	15829	623	22	4	561	4	TGFBRAP1	2	105886106	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-01D-1553-08	9096194	105886106	137313267	6	16346											
FAM55C	91775	broad.mit.edu	37	3	101520532	101520532	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr3:101520532G>T	ENST00000491511.2	+	5	1503	c.547G>T	c.(547-549)Gta>Tta	p.V183L	NXPE3_ENST00000422132.1_Missense_Mutation_p.V183L|NXPE3_ENST00000273347.5_Missense_Mutation_p.V183L|NXPE3_ENST00000477909.1_Missense_Mutation_p.V183L	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	183						extracellular region (GO:0005576)		p.V183L(1)									CAAAGTTAAAGTATCCGTATC	0.493																																																1	Substitution - Missense(1)	kidney(1)											81	84	83					3																	101520532		2203	4300	6503	SO:0001583	missense	0			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.547G>T	3.37:g.101520532G>T	ENSP00000417485:p.Val183Leu		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884435	0.91814	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.73	5.73	0.89815	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.00277	-1.1854	10	0.26408	T	0.33	-14.1294	20.2602	0.98440	0.0:0.0:1.0:0.0	.	183	Q969Y0	FA55C_HUMAN	L	183	ENSP00000273347:V183L;ENSP00000417485:V183L;ENSP00000418369:V183L;ENSP00000396421:V183L	ENSP00000273347:V183L	V	+	1	0	FAM55C	103003222	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.926000	0.87569	2.861000	0.98227	0.655000	0.94253	GTA		0.493	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		T	101520532	G	T	101520532	3	4	272	1	0	0	0	0	1	0	0	0	5588	1029	36	4	553	4	FAM55C	3	101520532	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-01D-1553-08		101520532	96501898	7	16347											
PRSS16	10279	hgsc.bcm.edu	37	6	27218496	27218497	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr6:27218496_27218497insC	ENST00000230582.3	+	5	517_518	c.502_503insC	c.(502-504)tccfs	p.S168fs	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	168					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTGGCACTTTCCCGCCTCTTT	0.629																																					NSCLC(178;1118 2105 17078 23587 44429)											0																																										SO:0001589	frameshift_variant	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.505dupC	6.37:g.27218499_27218499dupC	ENSP00000230582:p.Ser168fs		O75416	Frame_Shift_Ins	INS	ENST00000230582.3	37	CCDS4623.1																																																																																				0.629	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			C	27218497	-	C	27218496	7	5	272	1	0	1	1	0	0	0	0	0	12621	1783	62	0	520	0	PRSS16	6	27218496	Frame_Shift_Ins	INS	-	TCGA-B8-4620-01A-01D-1553-08		27218496	143896571	8	16348											
PRSS2	154754	broad.mit.edu	37	7	142481271	142481271	+	RNA	SNP	A	A	C			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr7:142481271A>C	ENST00000603901.1	+	0	345					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										AGCTCTCCACACCTGCCGTCA	0.537																																																0													215	146	168					7																	142481271		684	1496	2180			0					7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481271A>C				Silent	SNP	ENST00000603901.1	37																																																																																					0.537	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		C	142481271	A	C	142481271	1	2	272	0	1	0	0	0	0	0	0	0	12622	146	6	5		5	PRSS2	7	142481271	RNA	SNP	A	TCGA-B8-4620-01A-01D-1553-08		142481271	16657392	9	16349											
BAG4	9530	broad.mit.edu	37	8	38034599	38034599	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr8:38034599G>A	ENST00000287322.4	+	1	483	c.212G>A	c.(211-213)gGc>gAc	p.G71D	LSM1_ENST00000522515.1_5'Flank|LSM1_ENST00000520755.1_5'Flank|LSM1_ENST00000311351.4_5'Flank|BAG4_ENST00000432471.2_Missense_Mutation_p.G71D|BAG4_ENST00000521282.1_3'UTR	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	71					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.G71D(1)		breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGAGGCGATGGCTACTATCCC	0.701																																																1	Substitution - Missense(1)	kidney(1)											17	16	17					8																	38034599		2199	4292	6491	SO:0001583	missense	9530			AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"silencer of death domains"	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.212G>A	8.37:g.38034599G>A	ENSP00000287322:p.Gly71Asp		B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329053	0.95733	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	D;D	0.86432	-2.12;-1.82	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000013	D	0.91466	0.7306	M	0.63428	1.95	0.36744	D	0.882405	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92733	0.6201	10	0.46703	T	0.11	-9.825	12.8495	0.57850	0.0:0.0:1.0:0.0	.	71;71	B4E217;O95429	.;BAG4_HUMAN	D	71	ENSP00000393298:G71D;ENSP00000287322:G71D	ENSP00000287322:G71D	G	+	2	0	BAG4	38153756	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.764000	0.47613	2.380000	0.81148	0.491000	0.48974	GGC		0.701	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		A	38034599	G	A	38034599	3	1	272	1	0	0	0	0	1	0	0	0	1289	1203	42	2	214	2	BAG4	8	38034599	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-01D-1553-08		38034599	108329423	10	16350											
C9orf16	79095	hgsc.bcm.edu	37	9	130925841	130925841	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr9:130925841C>T	ENST00000372994.1	+	2	347	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16	67										ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		CCGGCAGACACGCCTGGAGTT	0.657																																																0													24	24	24					9																	130925841		2203	4300	6503	SO:0001583	missense	79095			AK022885	CCDS6893.1	9q34.1	2012-03-06			ENSG00000171159	ENSG00000171159			17823	protein-coding gene	gene with protein product						10369878	Standard	NM_024112		Approved	EST00098, FLJ12823, MGC4639	uc004btp.1	Q9BUW7	OTTHUMG00000020731	ENST00000372994.1:c.199C>T	9.37:g.130925841C>T	ENSP00000362085:p.Arg67Cys		Q5SYV8|Q9Y3F7	Missense_Mutation	SNP	ENST00000372994.1	37	CCDS6893.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534138	0.85812	.	.	ENSG00000171159	ENST00000372994	.	.	.	5.34	3.3	0.37823	.	0.058514	0.64402	D	0.000003	T	0.49321	0.1550	.	.	.	0.58432	D	0.999994	B	0.26635	0.155	B	0.23852	0.049	T	0.54357	-0.8306	8	0.87932	D	0	-13.4923	11.6081	0.51043	0.1326:0.7953:0.0:0.072	.	67	Q9BUW7	CI016_HUMAN	C	67	.	ENSP00000362085:R67C	R	+	1	0	C9orf16	129965662	0.975000	0.34042	0.988000	0.46212	0.997000	0.91878	2.470000	0.45119	1.270000	0.44297	0.555000	0.69702	CGC		0.657	C9orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054351.1	NM_024112		T	130925841	C	T	130925841	3	4	272	1	0	0	0	0	1	0	0	0	2468	536	19	1	205	1	C9orf16	9	130925841	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-01D-1553-08		130925841	10287590	11	16351											
ADAMTS13	11093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136291396	136291396	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr9:136291396delG	ENST00000371929.3	+	6	1061	c.617delG	c.(616-618)tggfs	p.W206fs	ADAMTS13_ENST00000536611.1_5'Flank|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371911.3_Frame_Shift_Del_p.W206fs|ADAMTS13_ENST00000371916.1_Frame_Shift_Del_p.W206fs|ADAMTS13_ENST00000356589.2_Frame_Shift_Del_p.W206fs|ADAMTS13_ENST00000355699.2_Frame_Shift_Del_p.W206fs	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	206	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCCCCAACCTGGAGCTGCCTC	0.607																																																0													74	64	67					9																	136291396		2203	4300	6503	SO:0001589	frameshift_variant	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.617delG	9.37:g.136291396delG	ENSP00000360997:p.Trp206fs		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Frame_Shift_Del	DEL	ENST00000371929.3	37	CCDS6970.1																																																																																				0.607	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		-	136291396	G	-	136291396	7	5	272	1	0	1	0	1	0	0	0	0	258	1357	47	0	639	0	ADAMTS13	9	136291396	Frame_Shift_Del	DEL	G	TCGA-B8-4620-01A-01D-1553-08	5365555	136291396	4922035	12	16352											
ART1	417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	3681532	3681532	+	Silent	SNP	C	C	T	rs139469651	byFrequency	TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr11:3681532C>T	ENST00000250693.1	+	3	884	c.783C>T	c.(781-783)ccC>ccT	p.P261P		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	261					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CCCAGGGCCCCGCCCGCATCT	0.602													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17767	0.0		0.0	False		,,,				2504	0.0															0								C		1,4401	2.1+/-5.4	0,1,2200	43	47	46		783	-10	0	11	dbSNP_134	46	0,8594		0,0,4297	no	coding-synonymous	ART1	NM_004314.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		261/328	3681532	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	417			S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"CD molecules"	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.783C>T	11.37:g.3681532C>T			Q6NTD2|Q96KT9	Silent	SNP	ENST00000250693.1	37	CCDS7744.1																																																																																				0.602	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		T	3681532	C	T	3681532	2	4	272	1	0	0	0	0	0	0	0	1	997	639	23	1		1	ART1	11	3681532	Silent	SNP	C	TCGA-B8-4620-01A-01D-1553-08		3681532	131324984	13	16353											
USP35	57558	hgsc.bcm.edu	37	11	77921393	77921402	+	Frame_Shift_Del	DEL	TGCTGCTCCG	TGCTGCTCCG	-	rs547090		TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	TGCTGCTCCG	TGCTGCTCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr11:77921393_77921402delTGCTGCTCCG	ENST00000529308.1	+	10	2753_2762	c.2492_2501delTGCTGCTCCG	c.(2491-2502)ctgctgctccgcfs	p.LLLR831fs	USP35_ENST00000441408.2_Frame_Shift_Del_p.LLLR417fs|USP35_ENST00000530267.1_Frame_Shift_Del_p.LLLR399fs|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Frame_Shift_Del_p.LLLR562fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	831	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCCATCCCCCTGCTGCTCCGCCTGCCACTG	0.624																																																0																																										SO:0001589	frameshift_variant	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2492_2501delTGCTGCTCCG	11.37:g.77921393_77921402delTGCTGCTCCG	ENSP00000431876:p.Leu831fs			Frame_Shift_Del	DEL	ENST00000529308.1	37	CCDS41693.1																																																																																				0.624	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		-	77921402	TGCTGCTCCG	-	77921393	7	5	272	1	0	1	0	1	0	0	0	0	17071	1580	55	0	2526	0	USP35	11	77921393	Frame_Shift_Del	DEL	TGCTGCTCCG	TCGA-B8-4620-01A-01D-1553-08	74239861	77921393	57085123	14	16354											
FAM124A	220108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	51826047	51826047	+	Missense_Mutation	SNP	A	A	T	rs538055450		TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr13:51826047A>T	ENST00000322475.8	+	3	679	c.544A>T	c.(544-546)Aac>Tac	p.N182Y	FAM124A_ENST00000280057.6_Missense_Mutation_p.N218Y	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	182								p.N218Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TCGCTACGACAACTATGCTGA	0.577																																																1	Substitution - Missense(1)	kidney(1)											47	45	46					13																	51826047		2203	4300	6503	SO:0001583	missense	220108			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.544A>T	13.37:g.51826047A>T	ENSP00000324625:p.Asn182Tyr		A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852676	0.51270	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.54866	0.55;0.55	5.79	5.79	0.91817	.	0.137789	0.64402	D	0.000006	T	0.71239	0.3316	M	0.75085	2.285	0.44067	D	0.996818	D;D;D	0.67145	0.996;0.993;0.978	D;P;P	0.65874	0.939;0.858;0.804	T	0.75164	-0.3414	10	0.87932	D	0	-24.0251	15.3036	0.73976	1.0:0.0:0.0:0.0	.	182;218;182	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	Y	182;218	ENSP00000324625:N182Y;ENSP00000280057:N218Y	ENSP00000280057:N218Y	N	+	1	0	FAM124A	50724048	1.000000	0.71417	0.866000	0.34008	0.018000	0.09664	8.962000	0.93254	2.208000	0.71279	0.533000	0.62120	AAC		0.577	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		T	51826047	A	T	51826047	3	4	272	1	0	0	0	0	1	0	0	0	5427	130	5	5	666	5	FAM124A	13	51826047	Missense_Mutation	SNP	A	TCGA-B8-4620-01A-01D-1553-08		51826047	63343831	15	16355											
CDH24	64403	broad.mit.edu	37	14	23521190	23521190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr14:23521190delC	ENST00000267383.5	-	8	1558	c.1466delG	c.(1465-1467)ggafs	p.G489fs	CDH24_ENST00000485922.1_5'Flank|CDH24_ENST00000554034.1_Intron|CDH24_ENST00000487137.2_Intron|CDH24_ENST00000397359.3_Frame_Shift_Del_p.G489fs			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	489	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TTGGGGGATTCCCACAGCGCT	0.627																																																0													27	26	26					14																	23521190		2202	4293	6495	SO:0001589	frameshift_variant	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1466delG	14.37:g.23521190delC	ENSP00000267383:p.Gly489fs		D3DS44|Q86UP1|Q9NT84	Frame_Shift_Del	DEL	ENST00000267383.5	37	CCDS9585.1																																																																																				0.627	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		-	23521190	C	-	23521190	7	5	272	1	0	1	0	1	0	0	0	0	3111	855	30	0	1013	0	CDH24	14	23521190	Frame_Shift_Del	DEL	C	TCGA-B8-4620-01A-01D-1553-08		23521190	83828350	16	16356											
CILP	8483	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65499358	65499358	+	Silent	SNP	G	G	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr15:65499358G>T	ENST00000261883.4	-	4	352	c.186C>A	c.(184-186)atC>atA	p.I62I		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	62					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTGGGTAGTCGATGTTGAACC	0.597																																																0													53	43	46					15																	65499358		2201	4299	6500	SO:0001819	synonymous_variant	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.186C>A	15.37:g.65499358G>T			B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	CCDS10203.1																																																																																				0.597	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		T	65499358	G	T	65499358	2	4	272	1	0	0	0	0	0	0	0	1	3431	1048	37	4		4	CILP	15	65499358	Silent	SNP	G	TCGA-B8-4620-01A-01D-1553-08		65499358	37032034	17	16357											
SETD1A	9739	hgsc.bcm.edu	37	16	30975991	30975992	+	Frame_Shift_Ins	INS	-	-	C	rs76624905|rs146035438		TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr16:30975991_30975992insC	ENST00000262519.8	+	7	1614_1615	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	310	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S310F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGATGCCTTTTCCCGCCGCCAC	0.599																																																1	Substitution - Missense(1)	skin(1)																																								SO:0001589	frameshift_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.931dupC	16.37:g.30975994_30975994dupC	ENSP00000262519:p.Ser310fs		A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Ins	INS	ENST00000262519.8	37	CCDS32435.1																																																																																				0.599	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		C	30975992	-	C	30975991	7	5	272	1	0	1	1	0	0	0	0	0	14136	1783	62	0	950	0	SETD1A	16	30975991	Frame_Shift_Ins	INS	-	TCGA-B8-4620-01A-01D-1553-08		30975991	59378762	18	16358											
MEOX1	4222	broad.mit.edu;hgsc.bcm.edu	37	17	41738797	41738797	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr17:41738797G>T	ENST00000318579.4	-	1	525	c.106C>A	c.(106-108)Ccc>Acc	p.P36T	MEOX1_ENST00000329168.3_Missense_Mutation_p.P36T|MEOX1_ENST00000393661.2_Intron|MEOX1_ENST00000549132.1_Nonsense_Mutation_p.Y6*	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	36					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P36T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGGTAGTGGGGTAGCCCTGAG	0.672																																																1	Substitution - Missense(1)	kidney(1)											21	27	25					17																	41738797		2191	4291	6482	SO:0001583	missense	4222				CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	7013	protein-coding gene	gene with protein product		600147	"mesenchyme homeo box 1"			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.106C>A	17.37:g.41738797G>T	ENSP00000321684:p.Pro36Thr		A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	CCDS11466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.397277|5.397277	0.96009|0.96009	.|.	.|.	ENSG00000005102|ENSG00000005102	ENST00000318579;ENST00000329168|ENST00000549132	D;T|.	0.90620|.	-2.7;0.95|.	4.68|4.68	3.68|3.68	0.42216|0.42216	.|.	0.578526|.	0.18278|.	N|.	0.146111|.	T|.	0.32466|.	0.0830|.	L|L	0.44542|0.44542	1.39|1.39	0.22796|0.22796	N|N	0.998727|0.998727	B;B|.	0.34181|.	0.386;0.44|.	B;B|.	0.31101|.	0.124;0.118|.	T|.	0.22034|.	-1.0228|.	10|.	0.33141|0.13853	T|T	0.24|0.58	-18.6574|-18.6574	5.1692|5.1692	0.15101|0.15101	0.0823:0.1417:0.6301:0.1459|0.0823:0.1417:0.6301:0.1459	.|.	36;36|.	Q15069;P50221|.	.;MEOX1_HUMAN|.	T|X	36|6	ENSP00000321684:P36T;ENSP00000328678:P36T|.	ENSP00000321684:P36T|ENSP00000449049:Y6X	P|Y	-|-	1|3	0|2	MEOX1|MEOX1	39094323|39094323	0.924000|0.924000	0.31332|0.31332	0.961000|0.961000	0.40146|0.40146	0.992000|0.992000	0.81027|0.81027	1.284000|1.284000	0.33249|0.33249	1.155000|1.155000	0.42497|0.42497	0.563000|0.563000	0.77884|0.77884	CCC|TAC		0.672	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			T	41738797	G	T	41738797	3	4	272	1	0	0	0	0	1	0	0	0	9475	1261	44	4	670	4	MEOX1	17	41738797	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-01D-1553-08		41738797	39456413	19	16359											
KRTAP20-2	337976	broad.mit.edu;ucsc.edu	37	21	32007632	32007632	+	Missense_Mutation	SNP	T	T	G	rs8132721		TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr21:32007632T>G	ENST00000330798.2	+	1	78	c.50T>G	c.(49-51)gTc>gGc	p.V17G		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	17			V -> G (in dbSNP:rs8132721).			intermediate filament (GO:0005882)		p.V17G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGCTATGGAGTCCTGGGCGGT	0.537																																																1	Substitution - Missense(1)	kidney(1)											197	159	172					21																	32007632		2203	4300	6503	SO:0001583	missense	337976			AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"Keratin associated proteins"	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.50T>G	21.37:g.32007632T>G	ENSP00000330746:p.Val17Gly			Missense_Mutation	SNP	ENST00000330798.2	37	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	3.806	-0.040607	0.07497	.	.	ENSG00000184032	ENST00000330798	T	0.06528	3.29	2.88	-0.109	0.13584	.	0.458821	0.15458	N	0.261281	T	0.04318	0.0119	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38757	-0.9646	9	0.87932	D	0	.	1.6402	0.02750	0.1142:0.1787:0.3416:0.3655	rs8132721;rs52833587;rs8132721	17	Q3LI61	KR202_HUMAN	G	17	ENSP00000330746:V17G	ENSP00000330746:V17G	V	+	2	0	KRTAP20-2	30929503	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.653000	0.24902	-0.294000	0.08973	-1.581000	0.00855	GTC		0.537	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			G	32007632	T	G	32007632	3	3	272	1	0	0	0	0	1	0	0	0	8539	1667	58	5	52	5	KRTAP20-2	21	32007632	Missense_Mutation	SNP	T	TCGA-B8-4620-01A-01D-1553-08		32007632	16122263	20	16360											
SUSD2	56241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24580140	24580140	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr22:24580140A>C	ENST00000358321.3	+	4	737	c.476A>C	c.(475-477)gAg>gCg	p.E159A		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	159					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E159A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GAGAAGAGCGAGTTGGTGAAC	0.617																																																1	Substitution - Missense(1)	kidney(1)											160	117	132					22																	24580140		2203	4300	6503	SO:0001583	missense	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.476A>C	22.37:g.24580140A>C	ENSP00000351075:p.Glu159Ala		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.808264	0.00606	.	.	ENSG00000099994	ENST00000358321	T	0.08008	3.14	3.6	1.33	0.21861	.	1.433850	0.04019	N	0.299396	T	0.05181	0.0138	N	0.19112	0.55	0.09310	N	1	B	0.22003	0.063	B	0.22386	0.039	T	0.34329	-0.9833	10	0.02654	T	1	-3.8408	5.014	0.14326	0.4509:0.3698:0.0:0.1793	.	159	Q9UGT4	SUSD2_HUMAN	A	159	ENSP00000351075:E159A	ENSP00000351075:E159A	E	+	2	0	SUSD2	22910140	0.002000	0.14202	0.034000	0.17996	0.002000	0.02628	0.729000	0.26028	0.114000	0.18032	-0.995000	0.02519	GAG		0.617	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		C	24580140	A	C	24580140	3	2	272	1	0	0	0	0	1	0	0	0	15413	304	11	5	490	5	SUSD2	22	24580140	Missense_Mutation	SNP	A	TCGA-B8-4620-01A-01D-1553-08		24580140	26724426	21	16361											
TMPRSS6	164656	broad.mit.edu	37	22	37480371	37480371	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr22:37480371G>T	ENST00000346753.3	-	10	1303	c.1187C>A	c.(1186-1188)cCg>cAg	p.P396Q	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.P387Q|RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P387Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P387Q|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P396Q	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	396	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGGGTGCACGGCAAATCATA	0.607																																																0													142	90	108					22																	37480371		2203	4300	6503	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1187C>A	22.37:g.37480371G>T	ENSP00000334962:p.Pro396Gln		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	1.791	-0.479535	0.04383	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000429068;ENST00000442782	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	4.57	1.3	0.21679	CUB (4);	0.568125	0.17459	N	0.173511	T	0.27134	0.0665	L	0.51422	1.61	0.09310	N	0.999992	D;D;P	0.64830	0.994;0.969;0.819	P;P;B	0.55615	0.78;0.54;0.339	T	0.08785	-1.0705	10	0.30854	T	0.27	.	7.7129	0.28688	0.2856:0.0:0.7144:0.0	.	396;387;396	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	Q	387;396;387;387;58;396	ENSP00000371211:P387Q;ENSP00000334962:P396Q;ENSP00000385453:P387Q;ENSP00000384964:P387Q;ENSP00000392433:P58Q;ENSP00000397691:P396Q	ENSP00000334962:P396Q	P	-	2	0	TMPRSS6	35810317	1.000000	0.71417	0.006000	0.13384	0.097000	0.18754	3.710000	0.54860	0.345000	0.23873	0.591000	0.81541	CCG		0.607	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		T	37480371	G	T	37480371	3	4	272	1	0	0	0	0	1	0	0	0	16256	1116	39	4	1284	4	TMPRSS6	22	37480371	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-01D-1553-08	12900231	37480371	13824195	22	16362											
DPYD	1806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	98164907	98164907	+	Splice_Site	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr1:98164907C>T	ENST00000370192.3	-	6	780	c.680G>A	c.(679-681)aGt>aAt	p.S227N	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	227					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.S227N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TAGGCATTACCTTAAACCACC	0.363																																																1	Substitution - Missense(1)	kidney(1)											104	103	103					1																	98164907		2203	4300	6503	SO:0001630	splice_region_variant	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.680+1G>A	1.37:g.98164907C>T			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844484	0.91197	.	.	ENSG00000188641	ENST00000370192	D	0.82255	-1.59	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79203	0.4406	N	0.11756	0.17	0.80722	D	1	D	0.64830	0.994	D	0.69654	0.965	T	0.79047	-0.1963	9	.	.	.	-18.6165	19.4065	0.94649	0.0:1.0:0.0:0.0	.	227	Q12882	DPYD_HUMAN	N	227	ENSP00000359211:S227N	.	S	-	2	0	DPYD	97937495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.747000	0.68689	2.595000	0.87683	0.591000	0.81541	AGT		0.363	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	Missense_Mutation	T	98164907	C	T	98164907	5	4	273	1	0	0	0	0	0	0	1	0	4747	695	24	2	2469	2	DPYD	1	98164907	Splice_Site	SNP	C	TCGA-B8-4620-01A-02D-1386-10		98164907	151085714	1	16363											
FLG2	388698	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152323999	152323999	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr1:152323999C>G	ENST00000388718.5	-	3	6335	c.6263G>C	c.(6262-6264)gGa>gCa	p.G2088A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2088					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2088A(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGACTGTCCATGACCAGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											517	463	481					1																	152323999		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6263G>C	1.37:g.152323999C>G	ENSP00000373370:p.Gly2088Ala		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270038	0.40194	.	.	ENSG00000143520	ENST00000388718	T	0.52057	0.68	4.69	1.66	0.24008	.	.	.	.	.	T	0.39118	0.1066	M	0.81497	2.545	0.09310	N	1	D	0.61080	0.989	P	0.52957	0.714	T	0.16660	-1.0395	9	0.39692	T	0.17	.	5.2299	0.15416	0.0:0.648:0.1682:0.1838	.	2088	Q5D862	FILA2_HUMAN	A	2088	ENSP00000373370:G2088A	ENSP00000373370:G2088A	G	-	2	0	FLG2	150590623	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.207000	0.09384	0.269000	0.21961	0.644000	0.83932	GGA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		G	152323999	C	G	152323999	3	3	273	1	0	0	0	0	1	0	0	0	5925	855	30	4	916	4	FLG2	1	152323999	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-02D-1386-10	54159092	152323999	96926622	2	16364											
CFHR2	3080	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	196927137	196927137	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr1:196927137C>A	ENST00000367415.5	+	4	647	c.547C>A	c.(547-549)Caa>Aaa	p.Q183K	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.Q183K|CFHR2_ENST00000476712.2_Missense_Mutation_p.Q167K	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	183	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.Q183K(1)		large_intestine(2)|ovary(1)|skin(3)	6						GAACTTGTATCAACTTGAGGG	0.408																																																1	Substitution - Missense(1)	kidney(1)											176	160	166					1																	196927137		2203	4300	6503	SO:0001583	missense	3080			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.547C>A	1.37:g.196927137C>A	ENSP00000356385:p.Gln183Lys		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	0.155	-1.087470	0.01873	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.63417	-0.04;-0.04	4.01	-6.57	0.01842	Complement control module (2);Sushi/SCR/CCP (3);	4.957740	0.01101	N	0.005371	T	0.39517	0.1081	N	0.17800	0.525	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.44922	-0.9296	10	0.06236	T	0.91	.	8.3784	0.32457	0.2925:0.5308:0.1767:0.0	.	156;183	P36980-2;P36980	.;FHR2_HUMAN	K	183	ENSP00000356391:Q183K;ENSP00000356385:Q183K	ENSP00000356385:Q183K	Q	+	1	0	CFHR2	195193760	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.538000	0.00219	-1.262000	0.02459	-1.612000	0.00800	CAA		0.408	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		A	196927137	C	A	196927137	3	1	273	1	0	0	0	0	1	0	0	0	3287	827	29	4	561	4	CFHR2	1	196927137	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-02D-1386-10	44603138	196927137	52323484	3	16365											
CD55	1604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207495818	207495818	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr1:207495818A>C	ENST00000367064.3	+	2	450	c.192A>C	c.(190-192)aaA>aaC	p.K64N	CD55_ENST00000314754.8_Missense_Mutation_p.K64N|CD55_ENST00000367067.4_Missense_Mutation_p.K64N|CD55_ENST00000367065.5_Missense_Mutation_p.K64N|CD55_ENST00000367062.4_Missense_Mutation_p.K64N|CD55_ENST00000391920.4_Missense_Mutation_p.K64N|CD55_ENST00000367063.2_Missense_Mutation_p.K64N|CD55_ENST00000391921.4_Missense_Mutation_p.K64N	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	64	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)	p.K64N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TAACGTACAAATGTGAAGAAA	0.468																																																1	Substitution - Missense(1)	kidney(1)											110	115	113					1																	207495818		2203	4300	6503	SO:0001583	missense	1604			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.192A>C	1.37:g.207495818A>C	ENSP00000356031:p.Lys64Asn		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	CCDS31006.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.71|18.71	3.683218|3.683218	0.68157|0.68157	.|.	.|.	ENSG00000196352|ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000367067;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062|ENST00000343420	T;T;T;T;T;T;T;T|.	0.65549|.	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16|.	5.44|5.44	-7.14|-7.14	0.01527|0.01527	Complement control module (2);Sushi/SCR/CCP (3);|.	1.134570|.	0.06671|.	N|.	0.766124|.	T|T	0.31358|0.31358	0.0794|0.0794	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D;D;P;P;P|.	0.69078|.	0.997;0.962;0.583;0.898;0.636|.	D;P;P;P;P|.	0.67725|.	0.953;0.542;0.584;0.542;0.708|.	T|T	0.35025|0.35025	-0.9805|-0.9805	10|5	0.27082|.	T|.	0.32|.	.|.	3.1003|3.1003	0.06324|0.06324	0.227:0.2488:0.4025:0.1218|0.227:0.2488:0.4025:0.1218	.|.	64;64;64;64;64|.	B1AP15;Q14UF4;P08174-2;P08174;B1AP13|.	.;.;.;DAF_HUMAN;.|.	N|T	64|74	ENSP00000356031:K64N;ENSP00000356030:K64N;ENSP00000375788:K64N;ENSP00000356034:K64N;ENSP00000316333:K64N;ENSP00000356032:K64N;ENSP00000375787:K64N;ENSP00000356029:K64N|.	ENSP00000316333:K64N|.	K|N	+|+	3|2	2|0	CD55|CD55	205562441|205562441	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.629000|-0.629000	0.05508|0.05508	-1.315000|-1.315000	0.02297|0.02297	-1.133000|-1.133000	0.01973|0.01973	AAA|AAT		0.468	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		C	207495818	A	C	207495818	3	2	273	1	0	0	0	0	1	0	0	0	3026	98	4	5	198	5	CD55	1	207495818	Missense_Mutation	SNP	A	TCGA-B8-4620-01A-02D-1386-10	10568681	207495818	41754803	4	16366											
EPAS1	2034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	46611722	46611723	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr2:46611722_46611723delGT	ENST00000263734.3	+	16	3046_3047	c.2536_2537delGT	c.(2536-2538)gtgfs	p.V846fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	846	CTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGACTGTGAGGTGAACGTGCCC	0.609																																																0																																										SO:0001589	frameshift_variant	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2536_2537delGT	2.37:g.46611722_46611723delGT	ENSP00000263734:p.Val846fs		Q86VA2|Q99630	Frame_Shift_Del	DEL	ENST00000263734.3	37	CCDS1825.1																																																																																				0.609	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		-	46611723	GT	-	46611722	7	5	273	1	0	1	0	1	0	0	0	0	5152	1261	44	0	2598	0	EPAS1	2	46611722	Frame_Shift_Del	DEL	GT	TCGA-B8-4620-01A-02D-1386-10		46611722	196587651	5	16367											
ANAPC1	64682	hgsc.bcm.edu	37	2	112536274	112536274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr2:112536274delG	ENST00000341068.3	-	45	6135	c.5363delC	c.(5362-5364)cctfs	p.P1788fs		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1788					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GATGTATGCAGGCAACATCTC	0.403																																																0													62	53	56					2																	112536274		2201	4297	6498	SO:0001589	frameshift_variant	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5363delC	2.37:g.112536274delG	ENSP00000339109:p.Pro1788fs		Q2M3H8|Q9BSE6|Q9H8D0	Frame_Shift_Del	DEL	ENST00000341068.3	37	CCDS2093.1																																																																																				0.403	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		-	112536274	G	-	112536274	7	5	273	1	0	1	0	1	0	0	0	0	598	1000	35	0	487	0	ANAPC1	2	112536274	Frame_Shift_Del	DEL	G	TCGA-B8-4620-01A-02D-1386-10	65924552	112536274	130663099	6	16368											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47125280	47125289	+	Frame_Shift_Del	DEL	TCTTGGCTCC	TCTTGGCTCC	-			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	TCTTGGCTCC	TCTTGGCTCC	TCTTGGCTCC	-	TCTTGGCTCC	TCTTGGCTCC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:47125280_47125289delTCTTGGCTCC	ENST00000409792.3	-	12	6023_6032	c.5981_5990delGGAGCCAAGA	c.(5980-5991)aggagccaagaafs	p.RSQE1994fs	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1994					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTGGCTGTTCTTGGCTCCTTTCACTCTC	0.433			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5981_5990delGGAGCCAAGA	3.37:g.47125280_47125289delTCTTGGCTCC	ENSP00000386759:p.Arg1994fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																				0.433	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47125289	TCTTGGCTCC	-	47125280	7	5	273	1	0	1	0	1	0	0	0	0	14137	1783	62	0	1744	0	SETD2	3	47125280	Frame_Shift_Del	DEL	TCTTGGCTCC	TCGA-B8-4620-01A-02D-1386-10		47125280	150897150	7	16369	127	2									
SETD2	29072	ucsc.edu	37	3	47125288	47125289	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	C	G|T	C	C	Unknown	Valid	Somatic	.	WXS	PGM	.		Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:47125288_47125289CC>GT	ENST00000409792.3	-	12	6023_6024	c.5981_5982GG>AC	c.(5980-5982)aGG>aAC	p.R1994N	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1994					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTTCTTGGCTCCTTTCACTCTC	0.441			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5981_5982delinsGT	3.37:g.47125288_47125289delinsGT	ENSP00000386759:p.Arg1994Asn		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2																																																																																				0.441	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		GT	47125289	CC	GT	47125288	3	3	273	1	0	0	0	0	1	0	0	0	14137	854	30	4	1752	4	SETD2	3	47125288	Missense_Mutation	DNP	CC	TCGA-B8-4620-01A-02D-1386-10	8	47125288	150897142	8	16370	127	2									
MITF	4286	broad.mit.edu;hgsc.bcm.edu	37	3	69987112	69987112	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:69987112G>A	ENST00000448226.2	+	3	621	c.494G>A	c.(493-495)gGc>gAc	p.G165D	MITF_ENST00000352241.4_Missense_Mutation_p.G165D|MITF_ENST00000314589.5_Missense_Mutation_p.G149D|MITF_ENST00000314557.6_Missense_Mutation_p.G58D|MITF_ENST00000472437.1_Missense_Mutation_p.G113D|MITF_ENST00000394351.3_Missense_Mutation_p.G58D|MITF_ENST00000328528.6_Missense_Mutation_p.G164D|MITF_ENST00000531774.1_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394355.2_Missense_Mutation_p.G140D			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	165					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.G58D(1)|p.G165D(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AACCAGCCTGGCGATCATGTC	0.522			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	2	Substitution - Missense(2)	kidney(2)											95	82	86					3																	69987112		2203	4300	6503	SO:0001583	missense	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.494G>A	3.37:g.69987112G>A	ENSP00000391803:p.Gly165Asp		B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	G	15.89	2.967182	0.53507	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351	T;T;T;T;T;T;T;T;T	0.25579	2.62;2.14;2.4;2.61;1.8;2.61;2.61;2.38;1.79	5.69	5.69	0.88448	.	0.102741	0.64402	D	0.000002	T	0.38026	0.1025	L	0.46157	1.445	0.58432	D	0.999996	P;P;P;P;P;P;P	0.45902	0.61;0.868;0.868;0.868;0.868;0.605;0.696	B;P;P;P;P;P;B	0.51415	0.191;0.669;0.669;0.669;0.467;0.503;0.268	T	0.01162	-1.1432	9	.	.	.	.	19.8068	0.96534	0.0:0.0:1.0:0.0	.	113;58;58;140;149;164;165	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	D	165;165;113;164;149;149;140;58;58	ENSP00000295600:G165D;ENSP00000391803:G165D;ENSP00000418845:G113D;ENSP00000327867:G164D;ENSP00000398639:G149D;ENSP00000324443:G149D;ENSP00000377884:G140D;ENSP00000324246:G58D;ENSP00000377880:G58D	.	G	+	2	0	MITF	70069802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.876000	0.75556	2.658000	0.90341	0.655000	0.94253	GGC		0.522	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		A	69987112	G	A	69987112	3	1	273	1	0	0	0	0	1	0	0	0	9598	1203	42	2	706	2	MITF	3	69987112	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-02D-1386-10	22861824	69987112	128035318	9	16371											
SERPINI1	5274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167540830	167540830	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:167540830G>A	ENST00000295777.5	+	7	1467	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.E346K	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	346					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E346K(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AGAGGTTAATGAAGAAGGCTC	0.373																																																1	Substitution - Missense(1)	kidney(1)											77	79	78					3																	167540830		2203	4300	6503	SO:0001583	missense	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.1036G>A	3.37:g.167540830G>A	ENSP00000295777:p.Glu346Lys		A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923848	0.92319	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979	D;D	0.91894	-2.93;-2.93	5.24	5.24	0.73138	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99818	1.1045	10	0.87932	D	0	.	17.6186	0.88074	0.0:0.0:1.0:0.0	.	346	Q99574	NEUS_HUMAN	K	346;346;94	ENSP00000397373:E346K;ENSP00000295777:E346K	ENSP00000295777:E346K	E	+	1	0	SERPINI1	169023524	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.112000	0.77086	2.441000	0.82636	0.555000	0.69702	GAA		0.373	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			A	167540830	G	A	167540830	3	1	273	1	0	0	0	0	1	0	0	0	14124	1291	45	2	1058	2	SERPINI1	3	167540830	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-02D-1386-10	97553718	167540830	30481600	10	16372											
BDP1	55814	broad.mit.edu;ucsc.edu	37	5	70840940	70840940	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr5:70840940G>T	ENST00000358731.4	+	32	6901	c.6638G>T	c.(6637-6639)gGg>gTg	p.G2213V	BDP1_ENST00000380675.2_Missense_Mutation_p.G349V	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2213					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G2213V(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCTGAGACAGGGCCCTGCACA	0.468																																																1	Substitution - Missense(1)	kidney(1)											120	114	116					5																	70840940		1855	4099	5954	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6638G>T	5.37:g.70840940G>T	ENSP00000351575:p.Gly2213Val		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	4.575	0.106877	0.08780	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.45276	3.8;0.9	4.55	-1.62	0.08372	.	1.568390	0.03294	N	0.188095	T	0.32704	0.0838	L	0.43152	1.355	0.09310	N	0.999999	B;P	0.34462	0.017;0.454	B;B	0.27715	0.007;0.082	T	0.22591	-1.0212	10	0.39692	T	0.17	.	7.8172	0.29267	0.0:0.2553:0.2719:0.4728	.	2213;2213	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	V	2213;1761;349;349	ENSP00000351575:G2213V;ENSP00000370050:G349V	ENSP00000351575:G2213V	G	+	2	0	BDP1	70876696	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.350000	0.07721	-0.448000	0.07128	-0.176000	0.13171	GGG		0.468	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		T	70840940	G	T	70840940	3	4	273	1	0	0	0	0	1	0	0	0	1395	1232	43	4	6764	4	BDP1	5	70840940	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-02D-1386-10		70840940	110074320	11	16373											
ETF1	2107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137846859	137846862	+	Frame_Shift_Del	DEL	GTGT	GTGT	-	rs377220516		TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	GTGT	GTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr5:137846859_137846862delGTGT	ENST00000360541.5	-	8	1111_1114	c.890_893delACAC	c.(889-894)gacacgfs	p.DT297fs	ETF1_ENST00000503014.1_Frame_Shift_Del_p.DT283fs|ETF1_ENST00000499810.2_Frame_Shift_Del_p.DT264fs	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	297					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTACTTGCCCGTGTCCTGGCTGAT	0.377																																																0																																										SO:0001589	frameshift_variant	2107			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.890_893delACAC	5.37:g.137846859_137846862delGTGT	ENSP00000353741:p.Asp297fs		B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Frame_Shift_Del	DEL	ENST00000360541.5	37	CCDS4207.1																																																																																				0.377	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		-	137846862	GTGT	-	137846859	7	5	273	1	0	1	0	1	0	0	0	0	5270	1145	40	0	436	0	ETF1	5	137846859	Frame_Shift_Del	DEL	GTGT	TCGA-B8-4620-01A-02D-1386-10	67005919	137846859	43068401	12	16374											
TRIM41	90933	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180651556	180651556	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr5:180651556G>C	ENST00000315073.5	+	1	1267	c.557G>C	c.(556-558)tGc>tCc	p.C186S	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.C186S	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	186					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.C186S(2)|p.C186Y(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCCTCAGTGCCGAAAGAGC	0.637																																																4	Substitution - Missense(4)	large_intestine(2)|kidney(2)											43	46	45					5																	180651556		2203	4300	6503	SO:0001583	missense	90933			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.557G>C	5.37:g.180651556G>C	ENSP00000320869:p.Cys186Ser		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297022	0.60086	.	.	ENSG00000146063	ENST00000351937;ENST00000315073;ENST00000421508	T;T	0.32272	1.46;1.46	5.08	5.08	0.68730	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.64402	D	0.000019	T	0.67078	0.2855	H	0.95504	3.68	0.47994	D	0.99956	D;D;D	0.76494	0.999;0.99;0.99	D;P;D	0.70935	0.971;0.87;0.909	T	0.78588	-0.2146	10	0.87932	D	0	.	15.9814	0.80114	0.0:0.0:1.0:0.0	.	186;186;186	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	S	186;186;65	ENSP00000336749:C186S;ENSP00000320869:C186S	ENSP00000320869:C186S	C	+	2	0	TRIM41	180584162	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.632000	0.74281	2.345000	0.79718	0.491000	0.48974	TGC		0.637	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		C	180651556	G	C	180651556	3	2	273	1	0	0	0	0	1	0	0	0	16521	1319	46	4	559	4	TRIM41	5	180651556	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-02D-1386-10	42804697	180651556	263704	13	16375											
DLK2	65989	broad.mit.edu;hgsc.bcm.edu	37	6	43418521	43418521	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr6:43418521C>A	ENST00000357338.3	-	6	1608	c.908G>T	c.(907-909)gGt>gTt	p.G303V	DLK2_ENST00000372485.1_Missense_Mutation_p.G297V|DLK2_ENST00000414245.1_Missense_Mutation_p.G297V|DLK2_ENST00000372488.3_Missense_Mutation_p.G303V	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	303					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.G303V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTAGGCTCACCTAGCCCAGC	0.672																																																1	Substitution - Missense(1)	kidney(1)											75	75	75					6																	43418521		2203	4300	6503	SO:0001583	missense	65989			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.908G>T	6.37:g.43418521C>A	ENSP00000349893:p.Gly303Val		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.60|11.60	1.687711|1.687711	0.29962|0.29962	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245|ENST00000430324	D;D;D;D|.	0.89270|.	-2.49;-2.46;-2.46;-2.49|.	5.09|5.09	4.21|4.21	0.49690|0.49690	.|.	0.350310|.	0.27206|.	N|.	0.020423|.	T|T	0.35508|0.35508	0.0934|0.0934	N|N	0.24115|0.24115	0.695|0.695	0.53005|0.53005	D|D	0.999961|0.999961	B|.	0.18741|.	0.03|.	B|.	0.19148|.	0.024|.	T|T	0.23833|0.23833	-1.0177|-1.0177	10|5	0.56958|.	D|.	0.05|.	.|.	14.0162|14.0162	0.64525|0.64525	0.0:0.6771:0.3229:0.0|0.0:0.6771:0.3229:0.0	.|.	303|.	Q6UY11|.	DLK2_HUMAN|.	V|L	297;303;303;297|209	ENSP00000361563:G297V;ENSP00000361566:G303V;ENSP00000349893:G303V;ENSP00000398906:G297V|.	ENSP00000349893:G303V|.	G|V	-|-	2|1	0|0	DLK2|DLK2	43526499|43526499	0.277000|0.277000	0.24220|0.24220	0.395000|0.395000	0.26283|0.26283	0.451000|0.451000	0.32288|0.32288	2.361000|2.361000	0.44160|0.44160	1.114000|1.114000	0.41781|0.41781	0.462000|0.462000	0.41574|0.41574	GGT|GTG		0.672	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		A	43418521	C	A	43418521	3	1	273	1	0	0	0	0	1	0	0	0	4567	507	18	4	247	4	DLK2	6	43418521	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-02D-1386-10		43418521	127696546	14	16376											
TDRD6	221400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46658611	46658611	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr6:46658611A>C	ENST00000316081.6	+	1	2746	c.2746A>C	c.(2746-2748)Aaa>Caa	p.K916Q	RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.K916Q	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	916					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.K916Q(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGCATGGCAAAAAAATCTAGA	0.338																																																1	Substitution - Missense(1)	kidney(1)											60	66	64					6																	46658611		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2746A>C	6.37:g.46658611A>C	ENSP00000346065:p.Lys916Gln		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	0.292	-0.979432	0.02197	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15718	2.4;2.4	5.74	-4.0	0.04057	.	1.301080	0.04598	N	0.398073	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B;B	0.19935	0.017;0.04	B;B	0.23574	0.047;0.032	T	0.41805	-0.9488	10	0.25106	T	0.35	-3.3051	3.8076	0.08783	0.5315:0.1889:0.1849:0.0948	.	916;916	F5H5M3;O60522	.;TDRD6_HUMAN	Q	916	ENSP00000443299:K916Q;ENSP00000346065:K916Q	ENSP00000346065:K916Q	K	+	1	0	TDRD6	46766570	0.000000	0.05858	0.002000	0.10522	0.113000	0.19764	-0.987000	0.03743	-0.734000	0.04843	0.528000	0.53228	AAA		0.338	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		C	46658611	A	C	46658611	3	2	273	1	0	0	0	0	1	0	0	0	15739	15	1	5	2748	5	TDRD6	6	46658611	Missense_Mutation	SNP	A	TCGA-B8-4620-01A-02D-1386-10	3240090	46658611	124456456	15	16377											
HACE1	57531	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	105298826	105298826	+	Silent	SNP	A	A	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr6:105298826A>G	ENST00000262903.4	-	3	453	c.177T>C	c.(175-177)taT>taC	p.Y59Y	HACE1_ENST00000369125.2_Silent_p.Y59Y	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	59					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.Y59Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GTCCGAATGCATAATTGACAT	0.318																																																1	Substitution - coding silent(1)	kidney(1)											177	180	179					6																	105298826		2203	4300	6503	SO:0001819	synonymous_variant	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.177T>C	6.37:g.105298826A>G			A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Silent	SNP	ENST00000262903.4	37	CCDS5050.1																																																																																				0.318	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		G	105298826	A	G	105298826	2	3	273	1	0	0	0	0	0	0	0	1	6942	224	8	3		3	HACE1	6	105298826	Silent	SNP	A	TCGA-B8-4620-01A-02D-1386-10	58640215	105298826	65816241	16	16378											
SGK1	6446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	134495196	134495196	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr6:134495196T>C	ENST00000237305.7	-	3	263	c.175A>G	c.(175-177)Aag>Gag	p.K59E	SGK1_ENST00000367857.5_Missense_Mutation_p.K49E|SGK1_ENST00000413996.3_Missense_Mutation_p.K73E|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000367858.5_Missense_Mutation_p.K154E|SGK1_ENST00000475719.2_Missense_Mutation_p.K59E|SGK1_ENST00000528577.1_Missense_Mutation_p.K87E	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	59	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.K87E(1)|p.K59E(1)|p.K154E(1)|p.K49E(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGGGAGATCTTCAAGATGGAC	0.498																																																4	Substitution - Missense(4)	kidney(4)											137	129	132					6																	134495196		2203	4300	6503	SO:0001583	missense	6446			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.175A>G	6.37:g.134495196T>C	ENSP00000237305:p.Lys59Glu		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686571	0.68157	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T;T	0.33216	1.67;1.67;1.67;1.67;1.67;1.67;1.42	5.99	5.99	0.97316	.	0.043881	0.85682	D	0.000000	T	0.15696	0.0378	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B	0.28605	0.13;0.167;0.019;0.077;0.217;0.019	B;B;B;B;B;B	0.31946	0.098;0.124;0.028;0.062;0.138;0.017	T	0.04678	-1.0934	10	0.32370	T	0.25	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	87;73;59;49;154;59	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	E	154;73;59;49;87;59;123	ENSP00000356832:K154E;ENSP00000396242:K73E;ENSP00000237305:K59E;ENSP00000356831:K49E;ENSP00000434450:K87E;ENSP00000434302:K59E;ENSP00000435577:K123E	ENSP00000237305:K59E	K	-	1	0	SGK1	134536889	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.698000	0.84413	2.291000	0.77112	0.533000	0.62120	AAG		0.498	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			C	134495196	T	C	134495196	3	2	273	1	0	0	0	0	1	0	0	0	14213	1792	62	3	1160	3	SGK1	6	134495196	Missense_Mutation	SNP	T	TCGA-B8-4620-01A-02D-1386-10	29196370	134495196	36619871	17	16379											
IYD	389434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150715251	150715251	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr6:150715251G>C	ENST00000344419.3	+	4	687	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	IYD_ENST00000500320.3_Missense_Mutation_p.E183Q|IYD_ENST00000392256.2_Missense_Mutation_p.E183Q|IYD_ENST00000425615.3_Missense_Mutation_p.E128Q|IYD_ENST00000229447.5_Missense_Mutation_p.E183Q|IYD_ENST00000392255.3_Missense_Mutation_p.E183Q	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	183					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)	p.E183Q(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CTGGATTAAAGAGTACTTGGA	0.343																																																3	Substitution - Missense(3)	kidney(3)											79	77	78					6																	150715251		2203	4300	6503	SO:0001583	missense	389434			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.547G>C	6.37:g.150715251G>C	ENSP00000343763:p.Glu183Gln		C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775700	0.70107	.	.	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	6.17	6.17	0.99709	Nitroreductase-like (3);	0.101518	0.64402	D	0.000002	T	0.72946	0.3524	L	0.60957	1.885	0.80722	D	1	P;B;P;B	0.44309	0.832;0.353;0.817;0.355	P;B;B;B	0.50490	0.642;0.406;0.333;0.317	T	0.70160	-0.4948	10	0.44086	T	0.13	-31.0523	20.8794	0.99867	0.0:0.0:1.0:0.0	.	101;183;183;183	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	Q	183;183;183;183;183;128	ENSP00000229447:E183Q;ENSP00000343763:E183Q;ENSP00000376085:E183Q;ENSP00000376084:E183Q;ENSP00000441276:E183Q;ENSP00000390081:E128Q	ENSP00000229447:E183Q	E	+	1	0	IYD	150756944	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.252000	0.72447	2.941000	0.99782	0.655000	0.94253	GAG		0.343	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		C	150715251	G	C	150715251	3	2	273	1	0	0	0	0	1	0	0	0	7934	943	33	4	561	4	IYD	6	150715251	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-02D-1386-10	16220055	150715251	20399816	18	16380											
COBL	23242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	51096089	51096089	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr7:51096089C>G	ENST00000265136.7	-	10	2869	c.2704G>C	c.(2704-2706)Gtg>Ctg	p.V902L	COBL_ENST00000395542.2_Missense_Mutation_p.V984L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	902					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.V902L(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCAGCCAGCACTGGCGCCTTG	0.582																																					NSCLC(189;2119 2138 12223 30818 34679)											1	Substitution - Missense(1)	kidney(1)											118	88	98					7																	51096089		2203	4300	6503	SO:0001583	missense	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2704G>C	7.37:g.51096089C>G	ENSP00000265136:p.Val902Leu		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	9.713	1.157496	0.21454	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.11277	2.8;2.79;2.79;2.79	5.31	1.2	0.21068	.	2.130060	0.02373	N	0.078022	T	0.08358	0.0208	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.25667	0.066;0.066;0.003;0.131;0.005	B;B;B;B;B	0.21151	0.033;0.033;0.002;0.032;0.007	T	0.33420	-0.9869	10	0.20519	T	0.43	.	7.3158	0.26499	0.0:0.2608:0.0:0.7392	.	902;959;902;984;444	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	L	902;794;787;984	ENSP00000265136:V902L;ENSP00000401204:V794L;ENSP00000413498:V787L;ENSP00000378912:V984L	ENSP00000265136:V902L	V	-	1	0	COBL	51063583	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.712000	0.25779	0.301000	0.22738	0.563000	0.77884	GTG		0.582	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		G	51096089	C	G	51096089	3	3	273	1	0	0	0	0	1	0	0	0	3655	565	20	4	1097	4	COBL	7	51096089	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-02D-1386-10		51096089	108042574	19	16381											
FLNC	2318	broad.mit.edu;hgsc.bcm.edu	37	7	128484128	128484128	+	Missense_Mutation	SNP	T	T	G	rs184454068		TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr7:128484128T>G	ENST00000325888.8	+	20	3261	c.3000T>G	c.(2998-3000)gaT>gaG	p.D1000E	FLNC_ENST00000346177.6_Missense_Mutation_p.D1000E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1000					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.D1000E(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCAACTGGATGTGCGGATGA	0.652																																																1	Substitution - Missense(1)	kidney(1)											44	50	48					7																	128484128		2125	4238	6363	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3000T>G	7.37:g.128484128T>G	ENSP00000327145:p.Asp1000Glu		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	T	8.528	0.870355	0.17322	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84298	-1.83;-1.83	5.05	-1.85	0.07784	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.116898	0.56097	D	0.000037	T	0.68906	0.3052	N	0.20483	0.58	0.36666	D	0.878243	B;B	0.13594	0.004;0.008	B;B	0.20577	0.012;0.03	T	0.49943	-0.8885	10	0.20519	T	0.43	.	8.1446	0.31104	0.0:0.3941:0.1106:0.4953	.	1000;1000	Q14315-2;Q14315	.;FLNC_HUMAN	E	1000	ENSP00000327145:D1000E;ENSP00000344002:D1000E	ENSP00000327145:D1000E	D	+	3	2	FLNC	128271364	0.000000	0.05858	0.985000	0.45067	0.895000	0.52256	-2.213000	0.01224	-0.631000	0.05560	-0.624000	0.04008	GAT		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			G	128484128	T	G	128484128	3	3	273	1	0	0	0	0	1	0	0	0	5937	1461	51	5	3078	5	FLNC	7	128484128	Missense_Mutation	SNP	T	TCGA-B8-4620-01A-02D-1386-10	77388039	128484128	30654535	20	16382											
ASH2L	9070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	37974168	37974168	+	Splice_Site	SNP	G	G	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr8:37974168G>T	ENST00000343823.6	+	8	1087	c.778G>T	c.(778-780)Gac>Tac	p.D260Y	ASH2L_ENST00000428278.2_Splice_Site_p.D166Y|ASH2L_ENST00000545394.1_Splice_Site_p.D121Y|ASH2L_ENST00000521652.1_Splice_Site_p.D166Y|ASH2L_ENST00000250635.7_Splice_Site_p.D166Y|ASH2L_ENST00000524263.1_3'UTR	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	260					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.D260Y(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATTTTTGCAGGACCTTAGTAA	0.358																																																1	Substitution - Missense(1)	kidney(1)											95	91	93					8																	37974168		2203	4300	6503	SO:0001630	splice_region_variant	9070			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"Zinc fingers, PHD-type"	744	protein-coding gene	gene with protein product		604782	"ash2 (absent, small, or homeotic, Drosophila, homolog)-like"	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.778-1G>T	8.37:g.37974168G>T			A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832818	0.91036	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49133	0.1539	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.20338	-1.0278	9	.	.	.	.	20.0222	0.97508	0.0:0.0:1.0:0.0	.	166;260	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	Y	260;166;121;166;166	ENSP00000340896:D260Y;ENSP00000250635:D166Y;ENSP00000443606:D121Y;ENSP00000395310:D166Y;ENSP00000430259:D166Y	.	D	+	1	0	ASH2L	38093325	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.723000	0.91458	2.726000	0.93360	0.655000	0.94253	GAC		0.358	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674	Missense_Mutation	T	37974168	G	T	37974168	5	4	273	1	0	0	0	0	0	0	1	0	1042	1188	41	4	808	4	ASH2L	8	37974168	Splice_Site	SNP	G	TCGA-B8-4620-01A-02D-1386-10		37974168	108389854	21	16383											
LYPLA1	10434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	54978369	54978369	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr8:54978369C>T	ENST00000316963.3	-	3	299	c.106G>A	c.(106-108)Gga>Aga	p.G36R	LYPLA1_ENST00000522007.1_Intron|LYPLA1_ENST00000519926.1_5'UTR|LYPLA1_ENST00000343231.6_Missense_Mutation_p.G36R	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	36					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)	p.G36R(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			TCTGCCCATCCGTGCCTGGTG	0.383																																																1	Substitution - Missense(1)	kidney(1)											81	78	79					8																	54978369		2203	4300	6503	SO:0001583	missense	10434			AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.106G>A	8.37:g.54978369C>T	ENSP00000320043:p.Gly36Arg		O43202|Q9UQF9	Missense_Mutation	SNP	ENST00000316963.3	37	CCDS6157.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483894	0.84854	.	.	ENSG00000120992	ENST00000316963;ENST00000523751;ENST00000343231;ENST00000518546;ENST00000519926;ENST00000517297	T;T;T	0.24151	1.87;1.87;1.87	5.81	5.81	0.92471	Phospholipase/carboxylesterase/thioesterase (1);	0.049902	0.85682	D	0.000000	T	0.51702	0.1690	M	0.76002	2.32	0.80722	D	1	P;P;D	0.89917	0.939;0.953;1.0	P;P;D	0.67725	0.638;0.468;0.953	T	0.52426	-0.8577	10	0.87932	D	0	1.7784	16.9993	0.86377	0.0:1.0:0.0:0.0	.	36;36;36	B4DP64;O75608-2;O75608	.;.;LYPA1_HUMAN	R	36	ENSP00000320043:G36R;ENSP00000344477:G36R;ENSP00000428729:G36R	ENSP00000320043:G36R	G	-	1	0	LYPLA1	55140922	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	3.788000	0.55446	2.746000	0.94184	0.655000	0.94253	GGA		0.383	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1			T	54978369	C	T	54978369	3	4	273	1	0	0	0	0	1	0	0	0	9118	661	23	1	614	1	LYPLA1	8	54978369	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-02D-1386-10	17004201	54978369	91385653	22	16384											
IFITM2	10581	broad.mit.edu;hgsc.bcm.edu	37	11	308415	308415	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr11:308415A>C	ENST00000399817.4	+	1	253	c.223A>C	c.(223-225)Ata>Cta	p.I75L	IFITM2_ENST00000533141.1_Missense_Mutation_p.I55L|IFITM2_ENST00000602569.1_Missense_Mutation_p.I55L|RP11-326C3.7_ENST00000526612.1_RNA	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	75					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I75L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGGGCTTCATAGCATTCGC	0.627																																																1	Substitution - Missense(1)	kidney(1)											62	78	73					11																	308415		1960	4174	6134	SO:0001583	missense	10581			X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"interferon induced transmembrane protein 2 (1-8D)"			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.223A>C	11.37:g.308415A>C	ENSP00000382714:p.Ile75Leu		Q6FH82|Q96DA8	Missense_Mutation	SNP	ENST00000399817.4	37	CCDS41583.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.60|10.60	1.395830|1.395830	0.25205|0.25205	.|.	.|.	ENSG00000185201|ENSG00000185201	ENST00000399815|ENST00000533141;ENST00000399817;ENST00000327366	.|D;D	.|0.85556	.|-2.0;-2.0	2.59|2.59	-2.53|-2.53	0.06326|0.06326	.|.	.|1.356490	.|0.05925	.|N	.|0.634140	T|T	0.81226|0.81226	0.4778|0.4778	M|M	0.62209|0.62209	1.925|1.925	0.24303|0.24303	N|N	0.99511|0.99511	.|B	.|0.21381	.|0.055	.|B	.|0.30716	.|0.119	T|T	0.65635|0.65635	-0.6120|-0.6120	5|10	.|0.41790	.|T	.|0.15	-4.289|-4.289	3.4397|3.4397	0.07458|0.07458	0.3526:0.2186:0.4288:0.0|0.3526:0.2186:0.4288:0.0	.|.	.|75	.|Q01629	.|IFM2_HUMAN	P|L	3|55;75;73	.|ENSP00000434443:I55L;ENSP00000382714:I75L	.|ENSP00000327996:I73L	H|I	+|+	2|1	0|0	IFITM2|IFITM2	298415|298415	0.011000|0.011000	0.17503|0.17503	0.937000|0.937000	0.37676|0.37676	0.329000|0.329000	0.28539|0.28539	-0.431000|-0.431000	0.06965|0.06965	-0.220000|-0.220000	0.09988|0.09988	0.254000|0.254000	0.18369|0.18369	CAT|ATA		0.627	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383591.1	NM_006435		C	308415	A	C	308415	3	2	273	1	0	0	0	0	1	0	0	0	7529	217	8	5	225	5	IFITM2	11	308415	Missense_Mutation	SNP	A	TCGA-B8-4620-01A-02D-1386-10		308415	134698101	23	16385											
APPL2	55198	broad.mit.edu;hgsc.bcm.edu	37	12	105582196	105582196	+	Missense_Mutation	SNP	G	G	A	rs536236110		TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr12:105582196G>A	ENST00000258530.3	-	17	1714	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	APPL2_ENST00000539978.2_Missense_Mutation_p.R454W|APPL2_ENST00000551662.1_Missense_Mutation_p.R503W	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.R497W(2)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCCAAAAACCGAACTATAAAC	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		21010	0.0		0.0	False		,,,				2504	0.001															2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											93	91	92					12																	105582196		2203	4300	6503	SO:0001583	missense	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1489C>T	12.37:g.105582196G>A	ENSP00000258530:p.Arg497Trp		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175533	0.94807	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.24908	1.83;1.83;1.83	5.35	5.35	0.76521	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.054287	0.85682	D	0.000000	T	0.54013	0.1832	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.69654	0.946;0.727;0.965	T	0.58825	-0.7568	10	0.87932	D	0	-21.6286	19.0617	0.93096	0.0:0.0:1.0:0.0	.	503;454;497	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	W	497;454;503	ENSP00000258530:R497W;ENSP00000444472:R454W;ENSP00000446917:R503W	ENSP00000258530:R497W	R	-	1	2	APPL2	104106326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.497000	0.84241	0.637000	0.83480	CGG		0.423	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		A	105582196	G	A	105582196	3	1	273	1	0	0	0	0	1	0	0	0	818	1057	37	1	525	1	APPL2	12	105582196	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-02D-1386-10		105582196	28269699	24	16386											
SACS	26278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	23914058	23914059	+	Missense_Mutation	DNP	CT	CT	GG			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr13:23914058_23914059CT>GG	ENST00000382292.3	-	9	4229_4230	c.3956_3957AG>CC	c.(3955-3957)aAG>aCC	p.K1319T	SACS_ENST00000382298.3_Missense_Mutation_p.K1319T|SACS_ENST00000402364.1_Missense_Mutation_p.K569T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1319					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.K1172T(1)|p.K1172N(1)|p.K1319T(1)|p.K1319N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACCACAGACCTTAAATAGTTG	0.386																																																4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3956_3957delinsGG	13.37:g.23914058_23914059delinsGG	ENSP00000371729:p.Lys1319Thr		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.386	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		GG	23914059	CT	GG	23914058	3	3	273	1	0	0	0	0	1	0	0	0	13810	680	24	4	9786	4	SACS	13	23914058	Missense_Mutation	DNP	CT	TCGA-B8-4620-01A-02D-1386-10		23914058	91255820	25	16387											
AKT1	207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	105246482	105246482	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr14:105246482C>T	ENST00000554581.1	-	2	1598	c.118G>A	c.(118-120)Gag>Aag	p.E40K	AKT1_ENST00000555528.1_Missense_Mutation_p.E40K|AKT1_ENST00000349310.3_Missense_Mutation_p.E40K|AKT1_ENST00000402615.2_Missense_Mutation_p.E40K|AKT1_ENST00000554848.1_Missense_Mutation_p.E40K|AKT1_ENST00000407796.2_Missense_Mutation_p.E40K|AKT1_ENST00000544168.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	40	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E40K(1)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TGCGGCCGCTCCTTGTAGCCA	0.582		1	Mis		"breast, colorectal, ovarian, NSCLC"																																		Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	1	Substitution - Missense(1)	kidney(1)											122	97	105					14																	105246482		2201	4300	6501	SO:0001583	missense	207			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.118G>A	14.37:g.105246482C>T	ENSP00000451828:p.Glu40Lys		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840144	0.91117	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.77	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.47716	1.5	0.80722	D	1	P	0.38535	0.635	P	0.46389	0.515	T	0.36817	-0.9732	10	0.35671	T	0.21	.	16.5167	0.84302	0.0:1.0:0.0:0.0	.	40	P31749	AKT1_HUMAN	K	40	ENSP00000451828:E40K;ENSP00000384293:E40K;ENSP00000270202:E40K;ENSP00000385326:E40K;ENSP00000450688:E40K;ENSP00000451166:E40K;ENSP00000451824:E40K	ENSP00000270202:E40K	E	-	1	0	AKT1	104317527	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.369000	0.79578	2.478000	0.83669	0.462000	0.41574	GAG		0.582	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		T	105246482	C	T	105246482	3	4	273	1	0	0	0	0	1	0	0	0	478	864	30	2	1372	2	AKT1	14	105246482	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-02D-1386-10		105246482	2103058	26	16388											
B2M	567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45007701	45007701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr15:45007701delT	ENST00000558401.1	+	2	218	c.148delT	c.(148-150)tttfs	p.F50fs	B2M_ENST00000544417.1_Frame_Shift_Del_p.F50fs|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Frame_Shift_Del_p.F50fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	50	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGTGTCTGGGTTTCATCCATC	0.413																																																0													187	191	189					15																	45007701		2198	4298	6496	SO:0001589	frameshift_variant	567			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.148delT	15.37:g.45007701delT	ENSP00000452780:p.Phe50fs		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	CCDS10113.1																																																																																				0.413	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		-	45007701	T	-	45007701	7	5	273	1	0	1	0	1	0	0	0	0	1244	1725	60	0	154	0	B2M	15	45007701	Frame_Shift_Del	DEL	T	TCGA-B8-4620-01A-02D-1386-10		45007701	57523691	27	16389	128	2									
B2M	567	hgsc.bcm.edu	37	15	45007705	45007705	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr15:45007705A>C	ENST00000558401.1	+	2	222	c.152A>C	c.(151-153)cAt>cCt	p.H51P	B2M_ENST00000544417.1_Missense_Mutation_p.H51P|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.H51P	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	51	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCTGGGTTTCATCCATCCGAC	0.418																																																0													190	193	192					15																	45007705		2198	4298	6496	SO:0001583	missense	567			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.152A>C	15.37:g.45007705A>C	ENSP00000452780:p.His51Pro		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187758	0.78789	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.03065	4.06	6.03	6.03	0.97812	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	H	0.94423	3.535	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	T	0.16217	-1.0410	10	0.87932	D	0	.	12.95	0.58394	1.0:0.0:0.0:0.0	.	51;51;51	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	P	51	ENSP00000437604:H51P	ENSP00000340858:H51P	H	+	2	0	B2M	42794997	1.000000	0.71417	0.999000	0.59377	0.700000	0.40528	6.818000	0.75257	2.308000	0.77769	0.533000	0.62120	CAT		0.418	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		C	45007705	A	C	45007705	3	2	273	1	0	0	0	0	1	0	0	0	1244	217	8	5	158	5	B2M	15	45007705	Missense_Mutation	SNP	A	TCGA-B8-4620-01A-02D-1386-10	4	45007705	57523687	28	16390	128	2									
GOLGA6D	653643	broad.mit.edu	37	15	75586110	75586110	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr15:75586110C>T	ENST00000434739.3	+	15	1675	c.1634C>T	c.(1633-1635)aCg>aTg	p.T545M	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	545						Golgi apparatus (GO:0005794)		p.T545M(1)		kidney(1)|lung(1)	2						GCGGACGGGACGGAGCAGGTG	0.622																																																1	Substitution - Missense(1)	kidney(1)											1	1	1					15																	75586110		104	494	598	SO:0001583	missense	653643				CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6D"				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1634C>T	15.37:g.75586110C>T	ENSP00000391085:p.Thr545Met			Missense_Mutation	SNP	ENST00000434739.3	37	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592676	0.28357	.	.	ENSG00000140478	ENST00000434739	T	0.22336	1.96	1.63	0.447	0.16608	.	.	.	.	.	T	0.11067	0.0270	N	0.08118	0	0.20563	N	0.999882	D	0.63046	0.992	P	0.44772	0.46	T	0.18147	-1.0346	9	0.66056	D	0.02	.	5.944	0.19209	0.7298:0.2702:0.0:0.0	.	545	P0CG33	GOG6D_HUMAN	M	545	ENSP00000391085:T545M	ENSP00000391085:T545M	T	+	2	0	GOLGA6D	73373163	1.000000	0.71417	0.011000	0.14972	0.002000	0.02628	2.463000	0.45058	0.110000	0.17919	-1.026000	0.02426	ACG		0.622	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		T	75586110	C	T	75586110	3	4	273	1	0	0	0	0	1	0	0	0	6562	536	19	1	1692	1	GOLGA6D	15	75586110	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-02D-1386-10	30578405	75586110	26945282	29	16391											
CLCN7	1186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1510843	1510843	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr16:1510843C>A	ENST00000382745.4	-	5	1063	c.458G>T	c.(457-459)gGc>gTc	p.G153V	CLCN7_ENST00000448525.1_Missense_Mutation_p.G129V|CLCN7_ENST00000262318.8_Missense_Mutation_p.G129V	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	153					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.G153V(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTACTTGAGGCCAGCCAGGTT	0.642																																																1	Substitution - Missense(1)	kidney(1)											98	83	88					16																	1510843		2199	4300	6499	SO:0001583	missense	1186			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.458G>T	16.37:g.1510843C>A	ENSP00000372193:p.Gly153Val		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682624	0.88542	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	T;T	0.80214	-1.35;-1.35	4.7	4.7	0.59300	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.82458	0.5041	L	0.41492	1.28	0.80722	D	1	B;D	0.63880	0.162;0.993	B;P	0.56216	0.052;0.794	D	0.83673	0.0167	10	0.49607	T	0.09	-33.178	16.2084	0.82142	0.0:1.0:0.0:0.0	.	129;153	E9PDB9;P51798	.;CLCN7_HUMAN	V	129;106;153;95	ENSP00000410907:G129V;ENSP00000372193:G153V	ENSP00000262318:G106V	G	-	2	0	CLCN7	1450844	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	7.710000	0.84655	2.156000	0.67533	0.591000	0.81541	GGC		0.642	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		A	1510843	C	A	1510843	3	1	273	1	0	0	0	0	1	0	0	0	3470	739	26	4	2043	4	CLCN7	16	1510843	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-02D-1386-10		1510843	88843910	30	16392											
TNFAIP1	7126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26667402	26667402	+	Silent	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr17:26667402C>T	ENST00000226225.2	+	3	540	c.273C>T	c.(271-273)acC>acT	p.T91T	TNFAIP1_ENST00000544907.2_5'UTR|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	91	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)	p.T91T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAGATGACACCATCACCCTCC	0.507																																																1	Substitution - coding silent(1)	kidney(1)											164	146	152					17																	26667402		2203	4300	6503	SO:0001819	synonymous_variant	7126				CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"BTB/POZ domain containing"	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.273C>T	17.37:g.26667402C>T			B7Z6M4|Q5TZQ1	Silent	SNP	ENST00000226225.2	37	CCDS11227.1																																																																																				0.507	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		T	26667402	C	T	26667402	2	4	273	1	0	0	0	0	0	0	0	1	16277	581	21	2		2	TNFAIP1	17	26667402	Silent	SNP	C	TCGA-B8-4620-01A-02D-1386-10		26667402	54527808	31	16393											
GGNBP2	79893	broad.mit.edu	37	17	34901611	34901611	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr17:34901611A>G	ENST00000304718.4	+	2	354	c.38A>G	c.(37-39)gAg>gGg	p.E13G	GGNBP2_ENST00000485685.2_Missense_Mutation_p.E13G|MYO19_ENST00000590081.1_5'Flank	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	13					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.E13G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GACGGGGAGGAGGAGTTCCCC	0.721																																																1	Substitution - Missense(1)	kidney(1)											49	35	40					17																	34901611		2181	4277	6458	SO:0001583	missense	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.38A>G	17.37:g.34901611A>G	ENSP00000307617:p.Glu13Gly		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958835	0.92726	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.0	5.0	0.66597	.	0.058451	0.64402	D	0.000003	T	0.63920	0.2552	L	0.55481	1.735	0.58432	D	0.999999	P;D	0.56968	0.936;0.978	P;P	0.53313	0.723;0.549	T	0.67369	-0.5688	9	0.59425	D	0.04	-12.2692	13.5754	0.61870	1.0:0.0:0.0:0.0	.	13;13	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	G	13	.	ENSP00000307617:E13G	E	+	2	0	GGNBP2	31975724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.081000	0.89511	1.869000	0.54173	0.482000	0.46254	GAG		0.721	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		G	34901611	A	G	34901611	3	3	273	1	0	0	0	0	1	0	0	0	6361	304	11	3	40	3	GGNBP2	17	34901611	Missense_Mutation	SNP	A	TCGA-B8-4620-01A-02D-1386-10	8234209	34901611	46293599	32	16394											
LRRC37A3	374819	broad.mit.edu	37	17	62892204	62892204	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr17:62892204T>A	ENST00000584306.1	-	3	1702	c.1172A>T	c.(1171-1173)gAa>gTa	p.E391V	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E391V|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	391						integral component of membrane (GO:0016021)		p.E391V(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AACTGTGACTTCATGATGTTC	0.537																																																1	Substitution - Missense(1)	kidney(1)											13	18	16					17																	62892204		1361	2799	4160	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1172A>T	17.37:g.62892204T>A	ENSP00000464535:p.Glu391Val		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337642	0.24253	.	.	ENSG00000176809	ENST00000319651	T	0.64260	-0.09	2.63	-3.74	0.04385	.	.	.	.	.	T	0.61236	0.2331	M	0.75615	2.305	0.09310	N	1	D	0.53885	0.963	P	0.49451	0.611	T	0.55711	-0.8098	9	0.72032	D	0.01	.	3.3159	0.07032	0.194:0.39:0.0:0.4159	.	391	O60309	L37A3_HUMAN	V	391	ENSP00000325713:E391V	ENSP00000325713:E391V	E	-	2	0	LRRC37A3	60322666	0.044000	0.20184	0.000000	0.03702	0.206000	0.24218	0.154000	0.16343	-1.107000	0.03004	0.136000	0.15936	GAA		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		A	62892204	T	A	62892204	3	1	273	1	0	0	0	0	1	0	0	0	8995	1783	62	5	3780	5	LRRC37A3	17	62892204	Missense_Mutation	SNP	T	TCGA-B8-4620-01A-02D-1386-10	27990593	62892204	18303006	33	16395											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9070657	9070657	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr19:9070657C>T	ENST00000397910.4	-	3	16992	c.16789G>A	c.(16789-16791)Gtg>Atg	p.V5597M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5599	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V5597L(2)|p.V5597M(2)|p.V1230L(1)|p.V1230M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCTGAGACACGGTTGAATGA	0.532																																																6	Substitution - Missense(6)	lung(3)|kidney(3)											128	119	122					19																	9070657		1964	4154	6118	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16789G>A	19.37:g.9070657C>T	ENSP00000381008:p.Val5597Met		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	1.558	-0.537491	0.04082	.	.	ENSG00000181143	ENST00000397910	T	0.24908	1.83	1.67	-3.34	0.04943	.	.	.	.	.	T	0.11452	0.0279	N	0.24115	0.695	.	.	.	B	0.32128	0.357	B	0.19391	0.025	T	0.13710	-1.0499	8	0.87932	D	0	.	2.3336	0.04241	0.4071:0.2891:0.0:0.3038	.	5597	B5ME49	.	M	5597	ENSP00000381008:V5597M	ENSP00000381008:V5597M	V	-	1	0	MUC16	8931657	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.370000	0.07523	-1.104000	0.03015	-0.701000	0.03672	GTG		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9070657	C	T	9070657	3	4	273	1	0	0	0	0	1	0	0	0	9975	536	19	1	27062	1	MUC16	19	9070657	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-02D-1386-10		9070657	50058326	34	16396											
LILRB5	10990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54756788	54756788	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr19:54756788G>A	ENST00000316219.5	-	9	1524	c.1417C>T	c.(1417-1419)Ctc>Ttc	p.L473F	LILRB5_ENST00000449561.2_Missense_Mutation_p.L474F|LILRB5_ENST00000345866.6_Missense_Mutation_p.L374F|LILRB5_ENST00000450632.1_Missense_Mutation_p.L465F|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	473					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.L465F(1)|p.L473F(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		aagaggaggaggaACAGCAGC	0.612																																																2	Substitution - Missense(2)	kidney(2)											176	125	142					19																	54756788		2203	4300	6503	SO:0001583	missense	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1417C>T	19.37:g.54756788G>A	ENSP00000320390:p.Leu473Phe		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272775	0.40194	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00601	6.59;6.29;6.62;6.41	2.59	1.5	0.22942	.	87.521900	0.00465	N	0.000106	T	0.02571	0.0078	M	0.73598	2.24	0.09310	N	1	D;B;B;D	0.76494	0.999;0.314;0.004;0.999	D;B;B;D	0.66196	0.942;0.118;0.013;0.926	T	0.39563	-0.9608	10	0.62326	D	0.03	.	7.4619	0.27300	0.0:0.3034:0.6966:0.0	.	465;374;474;473	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	F	473;465;474;374	ENSP00000320390:L473F;ENSP00000414225:L465F;ENSP00000406478:L474F;ENSP00000263430:L374F	ENSP00000320390:L473F	L	-	1	0	LILRB5	59448600	0.018000	0.18449	0.010000	0.14722	0.020000	0.10135	-0.002000	0.12924	0.610000	0.30035	0.585000	0.79938	CTC		0.612	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			A	54756788	G	A	54756788	3	1	273	1	0	0	0	0	1	0	0	0	8796	1000	35	2	375	2	LILRB5	19	54756788	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-02D-1386-10	45686131	54756788	4372195	35	16397											
KIR3DL1	3811	hgsc.bcm.edu;ucsc.edu	37	19	55341674	55341674	+	Frame_Shift_Del	DEL	T	T	-	rs200821495	byFrequency	TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr19:55341674delT	ENST00000391728.4	+	9	1312	c.1279delT	c.(1279-1281)ttgfs	p.L427fs	KIR3DL1_ENST00000326542.7_Frame_Shift_Del_p.L410fs|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Frame_Shift_Del_p.L332fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Del_p.L427fs|KIR3DL1_ENST00000541392.1_Frame_Shift_Del_p.L410fs|KIR2DS4_ENST00000339924.8_RNA	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	427					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGATACCATCTTGTACACGGA	0.512																																																0													279	261	267					19																	55341674		2171	4171	6342	SO:0001589	frameshift_variant	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1279delT	19.37:g.55341674delT	ENSP00000375608:p.Leu427fs		O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000391728.4	37	CCDS42621.1																																																																																				0.512	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		-	55341674	T	-	55341674	7	5	273	1	0	1	0	1	0	0	0	0	8322	1606	56	0	1313	0	KIR3DL1	19	55341674	Frame_Shift_Del	DEL	T	TCGA-B8-4620-01A-02D-1386-10	584886	55341674	3787309	36	16398											
LAMA5	3911	broad.mit.edu;hgsc.bcm.edu	37	20	60888399	60888399	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr20:60888399C>G	ENST00000252999.3	-	64	8842	c.8776G>C	c.(8776-8778)Gac>Cac	p.D2926H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2926	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.D2926H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAAGGCCTGTCCACAGCCGTG	0.652																																																1	Substitution - Missense(1)	kidney(1)											33	27	29					20																	60888399		2170	4275	6445	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8776G>C	20.37:g.60888399C>G	ENSP00000252999:p.Asp2926His		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.195050	0.78902	.	.	ENSG00000130702	ENST00000252999	T	0.19669	2.13	4.23	4.23	0.50019	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.193112	0.44483	U	0.000454	T	0.37237	0.0996	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.19647	-1.0299	10	0.56958	D	0.05	.	16.2251	0.82285	0.0:1.0:0.0:0.0	.	2926	O15230	LAMA5_HUMAN	H	2926	ENSP00000252999:D2926H	ENSP00000252999:D2926H	D	-	1	0	LAMA5	60321794	1.000000	0.71417	0.768000	0.31515	0.902000	0.53008	4.953000	0.63624	1.904000	0.55121	0.550000	0.68814	GAC		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		G	60888399	C	G	60888399	3	3	273	1	0	0	0	0	1	0	0	0	8611	855	30	4	2379	4	LAMA5	20	60888399	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-02D-1386-10		60888399	2137121	37	16399											
C22orf36	2678	hgsc.bcm.edu;ucsc.edu	37	22	24984203	24984204	+	Intron	INS	-	-	GCA	rs202133451	byFrequency	TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr22:24984203_24984204insGCA	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_In_Frame_Ins_p.133_134insL|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CTTCCTCTGGCGCAGGCTGGAC	0.599																																																0																																										SO:0001627	intron_variant	0			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+4427->GCA	22.37:g.24984204_24984206dupGCA			Q08247|Q14404|Q8TBS1|Q9UMK1	In_Frame_Ins	INS	ENST00000248923.4	37	CCDS42992.1																																																																																				0.599	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		GCA	24984204	-	GCA	24984203	6	5	273	0	1	1	1	0	0	0	0	0	2148	768	27	0		0	C22orf36	22	24984203	Intron	INS	-	TCGA-B8-4620-01A-02D-1386-10		24984203	26320363	38	16400											
FANCB	2187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	14882777	14882777	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chrX:14882777C>A	ENST00000324138.3	-	2	1009	c.856G>T	c.(856-858)Gca>Tca	p.A286S	FANCB_ENST00000398334.1_Missense_Mutation_p.A286S	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	286					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.A286S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AGTTGAACTGCACAAGGATCT	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							1	Substitution - Missense(1)	kidney(1)											99	88	92					X																	14882777		2203	4300	6503	SO:0001583	missense	2187	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.856G>T	X.37:g.14882777C>A	ENSP00000326819:p.Ala286Ser		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	4.939	0.174534	0.09391	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.03124	4.04;4.04;4.04	5.43	0.566	0.17317	.	1.052620	0.07373	N	0.886154	T	0.03011	0.0089	L	0.38838	1.175	0.09310	N	1	B	0.19583	0.037	B	0.20184	0.028	T	0.49194	-0.8965	10	0.07030	T	0.85	-1.0452	4.4405	0.11572	0.4237:0.2786:0.0:0.2977	.	286	Q8NB91	FANCB_HUMAN	S	286	ENSP00000326819:A286S;ENSP00000381378:A286S;ENSP00000397849:A286S	ENSP00000326819:A286S	A	-	1	0	FANCB	14792698	0.352000	0.24895	0.133000	0.22050	0.993000	0.82548	0.383000	0.20651	-0.271000	0.09272	0.513000	0.50165	GCA		0.393	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		A	14882777	C	A	14882777	3	1	273	1	0	0	0	0	1	0	0	0	5665	710	25	4	1755	4	FANCB	23	14882777	Missense_Mutation	SNP	C	TCGA-B8-4620-01A-02D-1386-10		14882777	140387783	39	16401											
TAB3	257397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	30849594	30849594	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chrX:30849594G>A	ENST00000378933.1	-	8	2266	c.2089C>T	c.(2089-2091)Cac>Tac	p.H697Y	TAB3_ENST00000288422.2_Missense_Mutation_p.H697Y|TAB3_ENST00000378930.3_Missense_Mutation_p.H697Y|TAB3_ENST00000378932.2_Missense_Mutation_p.H669Y	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	697					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.H697Y(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						AGTGCTGGGTGGTTAAGAAAG	0.502																																					Pancreas(164;1598 1985 29022 43301 49529)											1	Substitution - Missense(1)	kidney(1)											146	98	115					X																	30849594		2202	4300	6502	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.2089C>T	X.37:g.30849594G>A	ENSP00000368215:p.His697Tyr		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427672	0.83667	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.64	5.64	0.86602	Zinc finger, RanBP2-type (3);	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.91635	0.999;0.986	T	0.65800	-0.6080	10	0.87932	D	0	-3.8215	18.7077	0.91644	0.0:0.0:1.0:0.0	.	669;697	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	Y	697;697;697;669	ENSP00000368215:H697Y;ENSP00000368212:H697Y;ENSP00000288422:H697Y;ENSP00000368214:H669Y	ENSP00000288422:H697Y	H	-	1	0	TAB3	30759515	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.471000	0.97696	2.362000	0.80069	0.600000	0.82982	CAC		0.502	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		A	30849594	G	A	30849594	3	1	273	1	0	0	0	0	1	0	0	0	15502	1348	47	2	53	2	TAB3	23	30849594	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-02D-1386-10	15966817	30849594	124420966	40	16402											
NHSL2	340527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	71360504	71360504	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chrX:71360504A>G	ENST00000373677.1	+	2	3270	c.2008A>G	c.(2008-2010)Atc>Gtc	p.I670V	NHSL2_ENST00000510661.1_Missense_Mutation_p.I805V|NHSL2_ENST00000535692.1_Missense_Mutation_p.I670V|NHSL2_ENST00000540800.1_Missense_Mutation_p.I1036V			Q5HYW2	NHSL2_HUMAN	NHS-like 2	670								p.I667V(1)|p.I1036V(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCTCAGCCCCATCATCACCCT	0.557																																																2	Substitution - Missense(2)	kidney(2)											54	53	53					X																	71360504		2203	4300	6503	SO:0001583	missense	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2008A>G	X.37:g.71360504A>G	ENSP00000362781:p.Ile670Val		B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	A	15.21	2.765378	0.49574	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.50001	1.55;0.8;0.76;0.8	6.08	6.08	0.98989	.	0.065234	0.64402	D	0.000016	T	0.62974	0.2472	L	0.54323	1.7	0.34530	D	0.709149	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	T	0.72374	-0.4313	10	0.42905	T	0.14	-14.7661	13.2767	0.60191	1.0:0.0:0.0:0.0	.	1036;805;670	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	V	1036;670;805;670	ENSP00000444617:I1036V;ENSP00000362781:I670V;ENSP00000424079:I805V;ENSP00000444914:I670V	ENSP00000362781:I670V	I	+	1	0	NHSL2	71277229	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.629000	0.46485	2.044000	0.60594	0.486000	0.48141	ATC		0.557	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		G	71360504	A	G	71360504	3	3	273	1	0	0	0	0	1	0	0	0	10414	217	8	3	3128	3	NHSL2	23	71360504	Missense_Mutation	SNP	A	TCGA-B8-4620-01A-02D-1386-10	40510910	71360504	83910056	41	16403											
NAP1L3	4675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	92927545	92927545	+	Silent	SNP	T	T	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chrX:92927545T>C	ENST00000373079.3	-	1	1022	c.759A>G	c.(757-759)aaA>aaG	p.K253K	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.K246K	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	253	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.K253K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GGGGGACTTCTTTAGGATCTT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											144	137	140					X																	92927545		2203	4300	6503	SO:0001819	synonymous_variant	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.759A>G	X.37:g.92927545T>C			B2RCM0|O60788	Silent	SNP	ENST00000373079.3	37	CCDS14465.1																																																																																				0.428	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		C	92927545	T	C	92927545	2	2	273	1	0	0	0	0	0	0	0	1	10160	1606	56	3		3	NAP1L3	23	92927545	Silent	SNP	T	TCGA-B8-4620-01A-02D-1386-10	21567041	92927545	62343015	42	16404											
GPR112	139378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135441581	135441581	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chrX:135441581G>A	ENST00000394143.1	+	11	7402	c.7111G>A	c.(7111-7113)Gta>Ata	p.V2371I	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Missense_Mutation_p.V2166I|GPR112_ENST00000412101.1_Missense_Mutation_p.V2166I|GPR112_ENST00000370652.1_Missense_Mutation_p.V2371I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2371					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V2371I(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GACGTTATTAGTAAACTGTGA	0.338																																																1	Substitution - Missense(1)	kidney(1)											119	102	108					X																	135441581		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7111G>A	X.37:g.135441581G>A	ENSP00000377699:p.Val2371Ile		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475128	0.43942	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.34667	1.4;1.4;1.35;1.35	6.08	6.08	0.98989	.	.	.	.	.	T	0.41119	0.1145	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.83275	0.996;0.883	T	0.51395	-0.8711	9	0.72032	D	0.01	.	14.7421	0.69464	0.0:0.0:1.0:0.0	.	2166;2371	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	I	2371;2371;2166;2166	ENSP00000377699:V2371I;ENSP00000359686:V2371I;ENSP00000416526:V2166I;ENSP00000377697:V2166I	ENSP00000359686:V2371I	V	+	1	0	GPR112	135269247	0.978000	0.34361	0.261000	0.24466	0.016000	0.09150	2.021000	0.41020	2.562000	0.86427	0.600000	0.82982	GTA		0.338	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135441581	G	A	135441581	3	1	273	1	0	0	0	0	1	0	0	0	6631	1029	36	2	7141	2	GPR112	23	135441581	Missense_Mutation	SNP	G	TCGA-B8-4620-01A-02D-1386-10	42514036	135441581	19828979	43	16405											
RERE	473	hgsc.bcm.edu	37	1	8419867	8419868	+	Missense_Mutation	DNP	CG	CG	TT	rs538667090|rs147985313|rs557606465	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:8419867_8419868CG>TT	ENST00000337907.3	-	20	4208_4209	c.3574_3575CG>AA	c.(3574-3576)CGg>AAg	p.R1192K	RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.R924K|RERE_ENST00000476556.1_Missense_Mutation_p.R638K|RERE_ENST00000400908.2_Missense_Mutation_p.R1192K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1192	Arg/Glu-rich (mixed charge).				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E1191_R1192insKE(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ctcccgctcccgctccttctcc	0.683																																																1	Insertion - In frame(1)	ovary(1)																																								SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3574_3575delinsTT	1.37:g.8419867_8419868delinsTT	ENSP00000338629:p.Arg1192Lys		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation|Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																				0.683	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			TT	8419868	CG	TT	8419867	3	4	274	1	0	0	0	0	1	0	0	0	13237	652	23	1	1145	1	RERE	1	8419867	Missense_Mutation	DNP	CG	TCGA-B8-4621-01A-01D-1501-10		8419867	240830754	1	16406											
MTOR	2475	broad.mit.edu;ucsc.edu	37	1	11168294	11168294	+	Silent	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:11168294C>T	ENST00000361445.4	-	57	7654	c.7578G>A	c.(7576-7578)gaG>gaA	p.E2526E	MTOR_ENST00000376838.1_Silent_p.E731E	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2526	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.E2526E(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGATGAGCAGCTCAACTTGCG	0.458																																																1	Substitution - coding silent(1)	kidney(1)											137	117	124					1																	11168294		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7578G>A	1.37:g.11168294C>T			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	CCDS127.1																																																																																				0.458	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11168294	C	T	11168294	2	4	274	1	0	0	0	0	0	0	0	1	9956	796	28	2		2	MTOR	1	11168294	Silent	SNP	C	TCGA-B8-4621-01A-01D-1501-10	2748427	11168294	238082327	2	16407											
CLCNKB	1188	hgsc.bcm.edu;ucsc.edu	37	1	16377066	16377067	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:16377066_16377067insA	ENST00000375679.4	+	11	1135_1136	c.1024_1025insA	c.(1024-1026)cccfs	p.P342fs	CLCNKB_ENST00000375667.3_Frame_Shift_Ins_p.P173fs	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	342					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTACCCACCCAGCGCCGGC	0.624																																																0																																										SO:0001589	frameshift_variant	1188			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	Exception_encountered	1.37:g.16377066_16377067insA	ENSP00000364831:p.Pro342fs		B3KUY3|Q5T5Q7|Q5T5Q8	Frame_Shift_Ins	INS	ENST00000375679.4	37	CCDS168.1																																																																																				0.624	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		A	16377067	-	A	16377066	7	5	274	1	0	1	1	0	0	0	0	0	3472	507	18	0	1210	0	CLCNKB	1	16377066	Frame_Shift_Ins	INS	-	TCGA-B8-4621-01A-01D-1501-10	5208772	16377066	232873555	3	16408											
ATP13A2	23400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17322948	17322948	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:17322948G>T	ENST00000326735.8	-	13	1272	c.1239C>A	c.(1237-1239)caC>caA	p.H413Q	ATP13A2_ENST00000341676.5_Missense_Mutation_p.H408Q|ATP13A2_ENST00000452699.1_Missense_Mutation_p.H408Q|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_Intron			Q9NQ11	AT132_HUMAN	ATPase type 13A2	413					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.H413Q(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGGGCCGGGGGTGCAAGATGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											58	65	63					1																	17322948		2203	4300	6503	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1239C>A	1.37:g.17322948G>T	ENSP00000327214:p.His413Gln		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504299	0.64410	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.69	-5.71	0.02413	ATPase, P-type, ATPase-associated domain (1);	0.169299	0.53938	D	0.000057	D	0.89712	0.6794	L	0.37850	1.14	0.37568	D	0.919328	B;P;D;D	0.76494	0.199;0.661;0.999;0.997	B;B;D;D	0.71184	0.285;0.12;0.972;0.926	D	0.87919	0.2702	10	0.87932	D	0	-14.2214	18.5093	0.90910	0.1726:0.0:0.8274:0.0	.	126;408;408;413	Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.;.;.;AT132_HUMAN	Q	413;408;408;127	ENSP00000327214:H413Q;ENSP00000341115:H408Q;ENSP00000413307:H408Q;ENSP00000424393:H127Q	ENSP00000327214:H413Q	H	-	3	2	ATP13A2	17195535	0.581000	0.26741	0.938000	0.37757	0.976000	0.68499	-0.299000	0.08254	-1.257000	0.02475	-0.459000	0.05422	CAC		0.627	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		T	17322948	G	T	17322948	3	4	274	1	0	0	0	0	1	0	0	0	1124	1252	44	4	2607	4	ATP13A2	1	17322948	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	945882	17322948	231927673	4	16409											
TRIM63	84676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26385106	26385106	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:26385106A>C	ENST00000374272.3	-	5	744	c.606T>G	c.(604-606)agT>agG	p.S202R	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	202	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S202R(1)		kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTACCTGGTGACTGTTCTCCT	0.507																																																1	Substitution - Missense(1)	kidney(1)											157	152	154					1																	26385106		2203	4300	6503	SO:0001583	missense	84676			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	16007	protein-coding gene	gene with protein product	"muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein"	606131	"ring finger protein 28", "tripartite motif-containing 63", "tripartite motif containing 63"	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.606T>G	1.37:g.26385106A>C	ENSP00000363390:p.Ser202Arg		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	CCDS273.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.900010	0.52227	.	.	ENSG00000158022	ENST00000374272	T	0.48836	0.8	5.5	-6.28	0.02020	.	0.120218	0.85682	D	0.000000	T	0.58409	0.2120	M	0.75777	2.31	0.43080	D	0.994733	P	0.43857	0.819	P	0.52710	0.707	T	0.68689	-0.5342	10	0.59425	D	0.04	.	20.3655	0.98876	0.2033:0.0:0.7967:0.0	.	202	Q969Q1	TRI63_HUMAN	R	202	ENSP00000363390:S202R	ENSP00000363390:S202R	S	-	3	2	TRIM63	26257693	0.980000	0.34600	0.944000	0.38274	0.974000	0.67602	0.184000	0.16939	-1.128000	0.02922	-0.375000	0.07067	AGT		0.507	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		C	26385106	A	C	26385106	3	2	274	1	0	0	0	0	1	0	0	0	16543	272	10	5	475	5	TRIM63	1	26385106	Missense_Mutation	SNP	A	TCGA-B8-4621-01A-01D-1501-10	9062158	26385106	222865515	5	16410											
PCSK9	255738	broad.mit.edu;hgsc.bcm.edu	37	1	55527082	55527082	+	Silent	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:55527082C>T	ENST00000302118.5	+	11	2006	c.1716C>T	c.(1714-1716)ggC>ggT	p.G572G	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	572	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.G572G(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						AGGACCTTGGCACCCACAAGC	0.657																																					Pancreas(137;1454 1827 5886 22361 42375)											1	Substitution - coding silent(1)	kidney(1)											24	24	24					1																	55527082		2202	4300	6502	SO:0001819	synonymous_variant	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1716C>T	1.37:g.55527082C>T			A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	CCDS603.1																																																																																				0.657	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		T	55527082	C	T	55527082	2	4	274	1	0	0	0	0	0	0	0	1	11608	697	25	2		2	PCSK9	1	55527082	Silent	SNP	C	TCGA-B8-4621-01A-01D-1501-10	29141976	55527082	193723539	6	16411											
ATP2B4	493	hgsc.bcm.edu;ucsc.edu	37	1	203652386	203652387	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr1:203652386_203652387delGT	ENST00000357681.5	+	2	1176_1177	c.53_54delGT	c.(52-54)cgtfs	p.R18fs	ATP2B4_ENST00000391954.2_Frame_Shift_Del_p.R18fs|ATP2B4_ENST00000367218.3_Frame_Shift_Del_p.R18fs|ATP2B4_ENST00000367219.3_Frame_Shift_Del_p.R18fs|ATP2B4_ENST00000341360.2_Frame_Shift_Del_p.R18fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	18					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCGAGAGCCGTGAAGGGGACT	0.53																																																0																																										SO:0001589	frameshift_variant	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.53_54delGT	1.37:g.203652386_203652387delGT	ENSP00000350310:p.Arg18fs		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Del	DEL	ENST00000357681.5	37	CCDS1440.1																																																																																				0.53	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		-	203652387	GT	-	203652386	7	5	274	1	0	1	0	1	0	0	0	0	1142	1145	40	0	55	0	ATP2B4	1	203652386	Frame_Shift_Del	DEL	GT	TCGA-B8-4621-01A-01D-1501-10	148125304	203652386	45598235	7	16412											
XDH	7498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	31571778	31571778	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:31571778G>T	ENST00000379416.3	-	27	3086	c.3038C>A	c.(3037-3039)cCt>cAt	p.P1013H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1013					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.P1013H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ATTCAGAAAAGGAACTGTAAA	0.383																																					Colon(66;682 1445 30109 40147)											1	Substitution - Missense(1)	kidney(1)											98	98	98					2																	31571778		2203	4300	6503	SO:0001583	missense	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3038C>A	2.37:g.31571778G>T	ENSP00000368727:p.Pro1013His		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690651	0.29962	.	.	ENSG00000158125	ENST00000379416	T	0.39787	1.06	5.85	4.05	0.47172	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.798245	0.12585	N	0.456043	T	0.42944	0.1225	M	0.65975	2.015	0.22693	N	0.998845	B	0.16166	0.016	B	0.17433	0.018	T	0.34675	-0.9819	10	0.45353	T	0.12	.	10.9561	0.47358	0.0675:0.0:0.8023:0.1302	.	1013	P47989	XDH_HUMAN	H	1013	ENSP00000368727:P1013H	ENSP00000368727:P1013H	P	-	2	0	XDH	31425282	0.104000	0.21937	0.543000	0.28128	0.939000	0.58152	1.750000	0.38329	0.815000	0.34398	0.561000	0.74099	CCT		0.383	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		T	31571778	G	T	31571778	3	4	274	1	0	0	0	0	1	0	0	0	17431	1000	35	4	1003	4	XDH	2	31571778	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10		31571778	211627595	8	16413											
GEMIN6	79833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39008932	39008932	+	Silent	SNP	T	T	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:39008932T>G	ENST00000281950.3	+	3	518	c.402T>G	c.(400-402)acT>acG	p.T134T	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	134					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.T134T(1)		kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				GGGTCCTGACTATAGACCCAC	0.468																																																1	Substitution - coding silent(1)	kidney(1)											83	84	83					2																	39008932		2203	4300	6503	SO:0001819	synonymous_variant	79833			AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.402T>G	2.37:g.39008932T>G			B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Silent	SNP	ENST00000281950.3	37	CCDS1799.1																																																																																				0.468	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3			G	39008932	T	G	39008932	2	3	274	1	0	0	0	0	0	0	0	1	6334	1509	53	5		5	GEMIN6	2	39008932	Silent	SNP	T	TCGA-B8-4621-01A-01D-1501-10	7437154	39008932	204190441	9	16414											
SOS1	6654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39285889	39285889	+	Silent	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:39285889G>T	ENST00000426016.1	-	4	356	c.270C>A	c.(268-270)gcC>gcA	p.A90A	SOS1_ENST00000395038.2_Silent_p.A90A|SOS1_ENST00000428721.2_Silent_p.A33A|SOS1_ENST00000402219.2_Silent_p.A90A			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	90					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A90A(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAGCTGATTGGGCATCAGCTA	0.343									Noonan syndrome																																							1	Substitution - coding silent(1)	kidney(1)											78	80	79					2																	39285889		2203	4299	6502	SO:0001819	synonymous_variant	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.270C>A	2.37:g.39285889G>T			A8K2G3|B4DXG2	Silent	SNP	ENST00000426016.1	37	CCDS1802.1																																																																																				0.343	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		T	39285889	G	T	39285889	2	4	274	1	0	0	0	0	0	0	0	1	14942	1219	43	4		4	SOS1	2	39285889	Silent	SNP	G	TCGA-B8-4621-01A-01D-1501-10	276957	39285889	203913484	10	16415											
VRK2	7444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	58350342	58350342	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:58350342delC	ENST00000435505.2	+	11	1395	c.650delC	c.(649-651)accfs	p.T217fs	VRK2_ENST00000340157.4_Frame_Shift_Del_p.T217fs|VRK2_ENST00000412104.2_Frame_Shift_Del_p.T217fs|VRK2_ENST00000417641.2_Frame_Shift_Del_p.T217fs|VRK2_ENST00000440705.2_Frame_Shift_Del_p.T194fs			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATAGAGTTTACCAGCTTGGAT	0.393																																																0													107	104	105					2																	58350342		2203	4300	6503	SO:0001589	frameshift_variant	7444			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.650delC	2.37:g.58350342delC	ENSP00000408002:p.Thr217fs		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Frame_Shift_Del	DEL	ENST00000435505.2	37	CCDS1859.1																																																																																				0.393	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		-	58350342	C	-	58350342	7	5	274	1	0	1	0	1	0	0	0	0	17225	507	18	0	676	0	VRK2	2	58350342	Frame_Shift_Del	DEL	C	TCGA-B8-4621-01A-01D-1501-10	19064453	58350342	184849031	11	16416											
VRK2	7444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	58358987	58358987	+	Silent	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:58358987C>T	ENST00000435505.2	+	12	1466	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	VRK2_ENST00000340157.4_Silent_p.L241L|VRK2_ENST00000412104.2_Silent_p.L241L|VRK2_ENST00000417641.2_Silent_p.L241L|VRK2_ENST00000440705.2_Silent_p.L218L			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L241L(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CTACTGCATGCTGCGGTGGTT	0.458																																																1	Substitution - coding silent(1)	kidney(1)											141	123	129					2																	58358987		2203	4300	6503	SO:0001819	synonymous_variant	7444			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.721C>T	2.37:g.58358987C>T			B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Silent	SNP	ENST00000435505.2	37	CCDS1859.1																																																																																				0.458	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		T	58358987	C	T	58358987	2	4	274	1	0	0	0	0	0	0	0	1	17225	796	28	2		2	VRK2	2	58358987	Silent	SNP	C	TCGA-B8-4621-01A-01D-1501-10	8645	58358987	184840386	12	16417											
THSD7B	80731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	138033500	138033500	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:138033500C>A	ENST00000409968.1	+	12	2582	c.2404C>A	c.(2404-2406)Cca>Aca	p.P802T	THSD7B_ENST00000272643.3_Missense_Mutation_p.P802T|THSD7B_ENST00000413152.2_Missense_Mutation_p.P771T|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	802	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.P771T(1)|p.P802T(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGGTGGAAGCCACAGAAATG	0.423																																																2	Substitution - Missense(2)	kidney(2)											78	83	81					2																	138033500		1896	4116	6012	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2404C>A	2.37:g.138033500C>A	ENSP00000387145:p.Pro802Thr			Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	C	0.022	-1.410180	0.01145	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.19532	2.65;2.53;2.14	5.9	1.7	0.24286	.	0.343151	0.28871	U	0.013863	T	0.04861	0.0131	N	0.01257	-0.925	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26224	-1.0109	10	0.07990	T	0.79	.	4.513	0.11921	0.2156:0.3861:0.3246:0.0737	.	802;771	Q9C0I4;C9JKN6	THS7B_HUMAN;.	T	802;802;771	ENSP00000387145:P802T;ENSP00000272643:P802T;ENSP00000413841:P771T	ENSP00000272643:P802T	P	+	1	0	THSD7B	137749970	0.066000	0.20996	0.887000	0.34795	0.412000	0.31113	0.507000	0.22675	0.841000	0.35020	-0.257000	0.10917	CCA		0.423	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	138033500	C	A	138033500	3	1	274	1	0	0	0	0	1	0	0	0	15885	739	26	4	2353	4	THSD7B	2	138033500	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	79674513	138033500	105165873	13	16418											
HTR2B	3357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	231973291	231973291	+	Silent	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr2:231973291A>G	ENST00000258400.3	-	4	1898	c.1386T>C	c.(1384-1386)gaT>gaC	p.D462D	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	462					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.D462D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	GGAGAAGCGTATCTAGTAGAA	0.398																																					Ovarian(155;1331 1891 12853 14038 34991)											1	Substitution - coding silent(1)	kidney(1)											90	84	86					2																	231973291		2203	4300	6503	SO:0001819	synonymous_variant	3357				CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1386T>C	2.37:g.231973291A>G			B2R9D5|Q53TI1|Q62221|Q6P523	Silent	SNP	ENST00000258400.3	37	CCDS2483.1																																																																																				0.398	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		G	231973291	A	G	231973291	2	3	274	1	0	0	0	0	0	0	0	1	7444	446	16	3		3	HTR2B	2	231973291	Silent	SNP	A	TCGA-B8-4621-01A-01D-1501-10	93939791	231973291	11226082	14	16419											
SLC25A36	55186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	140675511	140675511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr3:140675511delC	ENST00000324194.6	+	2	352	c.184delC	c.(184-186)cccfs	p.P62fs	SLC25A36_ENST00000446041.2_Frame_Shift_Del_p.P62fs|SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000507429.1_Frame_Shift_Del_p.P62fs|SLC25A36_ENST00000453248.2_Frame_Shift_Del_p.P62fs			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	62					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGTAGTGTCTCCCGGACCTCT	0.418																																																0													135	131	133					3																	140675511		2203	4300	6503	SO:0001589	frameshift_variant	55186			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"Solute carriers"	25554	protein-coding gene	gene with protein product			"solute carrier family 25, member 36"				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.184delC	3.37:g.140675511delC	ENSP00000320688:p.Pro62fs		A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Frame_Shift_Del	DEL	ENST00000324194.6	37	CCDS46927.1																																																																																				0.418	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		-	140675511	C	-	140675511	7	5	274	1	0	1	0	1	0	0	0	0	14506	855	30	0	190	0	SLC25A36	3	140675511	Frame_Shift_Del	DEL	C	TCGA-B8-4621-01A-01D-1501-10		140675511	57346919	15	16420											
ST6GAL1	6480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186761061	186761061	+	Silent	SNP	G	G	A	rs141692826	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr3:186761061G>A	ENST00000169298.3	+	4	1244	c.570G>A	c.(568-570)gcG>gcA	p.A190A	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.A190A	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	190					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)	p.A190A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TGTCGTCAGCGGGATCTCTGA	0.522													G|||	2	0.000399361	0.0	0.0	5008	,	,		17576	0.001		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G	,,	1,4405		0,1,2202	134	118	123		570,570,	-11.2	0	3	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	ST6GAL1	NM_003032.2,NM_173216.2,NM_173217.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	190/407,190/407,	186761061	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6480			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.570G>A	3.37:g.186761061G>A			A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	CCDS3285.1																																																																																				0.522	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		A	186761061	G	A	186761061	2	1	274	1	0	0	0	0	0	0	0	1	15226	1103	39	1		1	ST6GAL1	3	186761061	Silent	SNP	G	TCGA-B8-4621-01A-01D-1501-10	46085550	186761061	11261369	16	16421											
ZNF595	152687	broad.mit.edu;hgsc.bcm.edu	37	4	86237	86237	+	3'UTR	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr4:86237G>A	ENST00000339368.6	+	0	1046							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ATACTGGAGAGAAACCCTACA	0.378																																																0													34	37	36					4																	86237		2125	4256	6381	SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1043G>A	4.37:g.86237G>A				Missense_Mutation	SNP	ENST00000339368.6	37																																																																																					0.378	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524		A	86237	G	A	86237	1	1	274	0	1	0	0	0	0	0	0	0	18030	942	33	2		2	ZNF595	4	86237	3'UTR	SNP	G	TCGA-B8-4621-01A-01D-1501-10		86237	191068039	17	16422											
HSD17B11	51170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	88293948	88293948	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr4:88293948G>A	ENST00000358290.4	-	4	785	c.470C>T	c.(469-471)cCt>cTt	p.P157L	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.P113L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	157					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)	p.P157L(1)		cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CGTCATTGCAGGAAGAAATGC	0.388																																																1	Substitution - Missense(1)	kidney(1)											150	125	134					4																	88293948		2203	4300	6503	SO:0001583	missense	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.470C>T	4.37:g.88293948G>A	ENSP00000351035:p.Pro157Leu		Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206893	0.79127	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.92699	-3.09;0.13	5.31	5.31	0.75309	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.97331	0.9127	H	0.95611	3.695	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.98485	1.0607	10	0.87932	D	0	.	17.7771	0.88513	0.0:0.0:1.0:0.0	.	157	Q8NBQ5	DHB11_HUMAN	L	157;113	ENSP00000351035:P157L;ENSP00000423775:P113L	ENSP00000351035:P157L	P	-	2	0	HSD17B11	88512972	1.000000	0.71417	0.991000	0.47740	0.798000	0.45092	6.429000	0.73387	2.484000	0.83849	0.655000	0.94253	CCT		0.388	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		A	88293948	G	A	88293948	3	1	274	1	0	0	0	0	1	0	0	0	7382	1000	35	2	448	2	HSD17B11	4	88293948	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	88207711	88293948	102860328	18	16423											
FAT1	2195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	187549904	187549904	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr4:187549904A>T	ENST00000441802.2	-	8	4546	c.4337T>A	c.(4336-4338)gTa>gAa	p.V1446E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1446	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1446E(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTGTCTATTACTTTGATGAA	0.318										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											2	Substitution - Missense(2)	kidney(2)											57	52	53					4																	187549904		1840	4085	5925	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4337T>A	4.37:g.187549904A>T	ENSP00000406229:p.Val1446Glu			Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.408413	0.83340	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.74526	-0.85	5.49	5.49	0.81192	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.058601	0.64402	D	0.000002	D	0.90549	0.7038	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93420	0.6776	10	0.87932	D	0	.	15.7623	0.78096	1.0:0.0:0.0:0.0	.	1446	Q14517	FAT1_HUMAN	E	1446	ENSP00000406229:V1446E	ENSP00000260147:V1446E	V	-	2	0	FAT1	187786898	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	9.139000	0.94554	2.311000	0.77944	0.533000	0.62120	GTA		0.318	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187549904	A	T	187549904	3	4	274	1	0	0	0	0	1	0	0	0	5691	391	14	5	9509	5	FAT1	4	187549904	Missense_Mutation	SNP	A	TCGA-B8-4621-01A-01D-1501-10	99255956	187549904	3604372	19	16424											
ERBB2IP	55914	broad.mit.edu;ucsc.edu	37	5	65288621	65288621	+	Silent	SNP	T	T	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr5:65288621T>C	ENST00000284037.5	+	3	464	c.75T>C	c.(73-75)acT>acC	p.T25T	ERBB2IP_ENST00000380938.2_Silent_p.T25T|ERBB2IP_ENST00000508515.1_Silent_p.T25T|ERBB2IP_ENST00000380935.1_Silent_p.T25T|ERBB2IP_ENST00000506030.1_Silent_p.T25T|ERBB2IP_ENST00000380943.2_Silent_p.T25T|ERBB2IP_ENST00000380939.2_Silent_p.T25T|ERBB2IP_ENST00000416865.2_Silent_p.T25T|ERBB2IP_ENST00000380936.1_Silent_p.T25T|ERBB2IP_ENST00000511297.1_Silent_p.T25T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	25					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.T25T(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGACTGTCACTACTCTTGATT	0.378																																																1	Substitution - coding silent(1)	kidney(1)											134	131	132					5																	65288621		2203	4300	6503	SO:0001819	synonymous_variant	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.75T>C	5.37:g.65288621T>C			A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	CCDS58953.1																																																																																				0.378	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		C	65288621	T	C	65288621	2	2	274	1	0	0	0	0	0	0	0	1	5209	1509	53	3		3	ERBB2IP	5	65288621	Silent	SNP	T	TCGA-B8-4621-01A-01D-1501-10		65288621	115626639	20	16425											
ZNF608	57507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	123982880	123982880	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr5:123982880A>G	ENST00000306315.5	-	4	3632	c.3197T>C	c.(3196-3198)gTg>gCg	p.V1066A	ZNF608_ENST00000504926.1_Missense_Mutation_p.V639A|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1066							metal ion binding (GO:0046872)	p.V1066A(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTGTGTGATCACCGACTGGTG	0.483																																																1	Substitution - Missense(1)	kidney(1)											89	81	84					5																	123982880		2203	4300	6503	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3197T>C	5.37:g.123982880A>G	ENSP00000307746:p.Val1066Ala		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447366	0.43429	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.55052	0.54;0.54	5.57	5.57	0.84162	.	0.057079	0.64402	D	0.000001	T	0.49712	0.1573	L	0.58428	1.81	0.46203	D	0.998921	B	0.24576	0.106	B	0.20384	0.029	T	0.43556	-0.9384	10	0.25106	T	0.35	-22.1069	16.0213	0.80499	1.0:0.0:0.0:0.0	.	1066	Q9ULD9	ZN608_HUMAN	A	639;1066	ENSP00000427657:V639A;ENSP00000307746:V1066A	ENSP00000307746:V1066A	V	-	2	0	ZNF608	124010779	1.000000	0.71417	0.901000	0.35422	0.704000	0.40688	7.291000	0.78721	2.239000	0.73571	0.523000	0.50628	GTG		0.483	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		G	123982880	A	G	123982880	3	3	274	1	0	0	0	0	1	0	0	0	18039	159	6	3	1365	3	ZNF608	5	123982880	Missense_Mutation	SNP	A	TCGA-B8-4621-01A-01D-1501-10	58694259	123982880	56932380	21	16426											
PCDHB8	56128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140559876	140559876	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr5:140559876T>C	ENST00000239444.2	+	1	2506	c.2261T>C	c.(2260-2262)gTg>gCg	p.V754A	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V754A(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTACGAGGTGTGCCTGGCA	0.562																																																1	Substitution - Missense(1)	kidney(1)											101	102	102					5																	140559876		2203	4300	6503	SO:0001583	missense	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2261T>C	5.37:g.140559876T>C	ENSP00000239444:p.Val754Ala		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568360	0.45798	.	.	ENSG00000120322	ENST00000239444	T	0.15139	2.45	4.53	4.53	0.55603	.	.	.	.	.	T	0.31358	0.0794	M	0.85859	2.78	0.36275	D	0.855401	B	0.28082	0.2	B	0.36030	0.216	T	0.44711	-0.9310	9	0.87932	D	0	.	13.5476	0.61713	0.0:0.0:0.0:1.0	.	754	Q9UN66	PCDB8_HUMAN	A	754	ENSP00000239444:V754A	ENSP00000239444:V754A	V	+	2	0	PCDHB8	140540060	1.000000	0.71417	0.988000	0.46212	0.101000	0.19017	4.881000	0.63114	1.673000	0.50895	0.455000	0.32223	GTG		0.562	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		C	140559876	T	C	140559876	3	2	274	1	0	0	0	0	1	0	0	0	11550	1696	59	3	2263	3	PCDHB8	5	140559876	Missense_Mutation	SNP	T	TCGA-B8-4621-01A-01D-1501-10	16576996	140559876	40355384	22	16427											
CDX1	1044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149562381	149562381	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr5:149562381C>A	ENST00000231656.8	+	2	578	c.496C>A	c.(496-498)Cgc>Agc	p.R166S		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	166					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.R166S(1)		central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGACCACCAACGCCTGGAGCT	0.567																																																1	Substitution - Missense(1)	kidney(1)											154	154	154					5																	149562381		2203	4300	6503	SO:0001583	missense	1044			U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"Homeoboxes / ANTP class : HOXL subclass"	1805	protein-coding gene	gene with protein product		600746	"caudal type homeo box transcription factor 1"			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.496C>A	5.37:g.149562381C>A	ENSP00000231656:p.Arg166Ser		Q4VAU4|Q9NYK8	Missense_Mutation	SNP	ENST00000231656.8	37	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579634	0.96565	.	.	ENSG00000113722	ENST00000231656;ENST00000377812	D	0.96136	-3.92	5.87	5.87	0.94306	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.122961	0.56097	D	0.000032	D	0.96935	0.8999	L	0.45470	1.425	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.97056	0.9767	10	0.66056	D	0.02	-13.975	20.2079	0.98282	0.0:1.0:0.0:0.0	.	166	P47902	CDX1_HUMAN	S	166;55	ENSP00000231656:R166S	ENSP00000231656:R166S	R	+	1	0	CDX1	149542574	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.910000	0.69931	2.781000	0.95711	0.655000	0.94253	CGC		0.567	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7	NM_001804		A	149562381	C	A	149562381	3	1	274	1	0	0	0	0	1	0	0	0	3184	536	19	4	502	4	CDX1	5	149562381	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	9002505	149562381	31352879	23	16428											
ZNF184	7738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27420285	27420285	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr6:27420285T>A	ENST00000211936.6	-	6	1337	c.1053A>T	c.(1051-1053)gaA>gaT	p.E351D	ZNF184_ENST00000377419.1_Missense_Mutation_p.E351D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E351D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTTCTGATGTTCCATAAAGT	0.398																																																1	Substitution - Missense(1)	kidney(1)											52	52	52					6																	27420285		2203	4300	6503	SO:0001583	missense	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1053A>T	6.37:g.27420285T>A	ENSP00000211936:p.Glu351Asp		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670830	0.47781	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	T;T	0.19394	2.15;2.15	5.12	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000162	T	0.04452	0.0122	N	0.25957	0.775	0.35919	D	0.831665	B	0.09022	0.002	B	0.06405	0.002	T	0.27839	-1.0062	10	0.13108	T	0.6	.	8.3225	0.32136	0.0:0.0957:0.0:0.9043	.	351	Q99676	ZN184_HUMAN	D	351;351;351;39	ENSP00000211936:E351D;ENSP00000366636:E351D	ENSP00000211936:E351D	E	-	3	2	ZNF184	27528264	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.174000	0.03105	0.983000	0.38602	0.455000	0.32223	GAA		0.398	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		A	27420285	T	A	27420285	3	1	274	1	0	0	0	0	1	0	0	0	17756	1722	60	5	1206	5	ZNF184	6	27420285	Missense_Mutation	SNP	T	TCGA-B8-4621-01A-01D-1501-10		27420285	143694782	24	16429											
KCNK5	8645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	39162421	39162421	+	Silent	SNP	C	C	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr6:39162421C>G	ENST00000359534.3	-	3	752	c.414G>C	c.(412-414)ggG>ggC	p.G138G		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	138					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G138G(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGGCACGTCCCCCGAAGAACT	0.597																																																1	Substitution - coding silent(1)	kidney(1)											123	108	113					6																	39162421		2203	4300	6503	SO:0001819	synonymous_variant	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.414G>C	6.37:g.39162421C>G			B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	CCDS4841.1																																																																																				0.597	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		G	39162421	C	G	39162421	2	3	274	1	0	0	0	0	0	0	0	1	8071	610	22	4		4	KCNK5	6	39162421	Silent	SNP	C	TCGA-B8-4621-01A-01D-1501-10	11742136	39162421	131952646	25	16430											
TFEB	7942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41658461	41658461	+	Silent	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr6:41658461G>A	ENST00000230323.4	-	4	709	c.408C>T	c.(406-408)ggC>ggT	p.G136G	TFEB_ENST00000394283.1_Silent_p.G136G|TFEB_ENST00000373033.1_Silent_p.G136G|TFEB_ENST00000358871.2_Silent_p.G150G|TFEB_ENST00000403298.4_Silent_p.G136G|TFEB_ENST00000420312.1_Intron	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	136				GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730). {ECO:0000305}.	autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G136G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GAGCACTGTTGCCAGCGGAGG	0.647			T	ALPHA	renal (childhood epithelioid)																																		Dom	yes		6	6p21	7942	transcription factor EB		"E,M"	1	Substitution - coding silent(1)	kidney(1)											43	43	43					6																	41658461		2203	4300	6503	SO:0001819	synonymous_variant	7942			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"Basic helix-loop-helix proteins"	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.408C>T	6.37:g.41658461G>A			Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Silent	SNP	ENST00000230323.4	37	CCDS4858.1																																																																																				0.647	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			A	41658461	G	A	41658461	2	1	274	1	0	0	0	0	0	0	0	1	15806	1306	46	2		2	TFEB	6	41658461	Silent	SNP	G	TCGA-B8-4621-01A-01D-1501-10	2496040	41658461	129456606	26	16431											
PKHD1	5314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	51917916	51917916	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr6:51917916A>G	ENST00000371117.3	-	21	2373	c.2098T>C	c.(2098-2100)Ttc>Ctc	p.F700L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F700L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	700					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.F700L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCACATAGAACAGGCCCGTC	0.512																																																2	Substitution - Missense(2)	kidney(2)											72	73	72					6																	51917916		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2098T>C	6.37:g.51917916A>G	ENSP00000360158:p.Phe700Leu		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.130522	0.37630	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88509	-2.18;-2.39	5.63	3.51	0.40186	.	0.174773	0.37178	N	0.002220	T	0.70395	0.3219	L	0.46157	1.445	0.25276	N	0.989474	B;B	0.17465	0.021;0.022	B;B	0.16722	0.016;0.011	T	0.59263	-0.7487	10	0.26408	T	0.33	.	7.0155	0.24885	0.8438:0.0:0.1562:0.0	.	700;700	P08F94-2;P08F94	.;PKHD1_HUMAN	L	700	ENSP00000360158:F700L;ENSP00000341097:F700L	ENSP00000341097:F700L	F	-	1	0	PKHD1	52025875	0.994000	0.37717	0.370000	0.25965	0.715000	0.41141	3.145000	0.50623	0.659000	0.30945	-0.242000	0.12053	TTC		0.512	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51917916	A	G	51917916	3	3	274	1	0	0	0	0	1	0	0	0	11973	43	2	3	10353	3	PKHD1	6	51917916	Missense_Mutation	SNP	A	TCGA-B8-4621-01A-01D-1501-10	10259455	51917916	119197151	27	16432											
NKAIN2	154215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	124979381	124979381	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr6:124979381delG	ENST00000368417.1	+	4	383	c.323delG	c.(322-324)tggfs	p.W108fs	NKAIN2_ENST00000368416.1_Frame_Shift_Del_p.W108fs|NKAIN2_ENST00000545433.1_Frame_Shift_Del_p.W93fs|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CGATCTTGGTGGATGGAGAAT	0.463																																																0													139	131	133					6																	124979381		2203	4300	6503	SO:0001589	frameshift_variant	154215			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"Na+/K+ transporting ATPase interacting"	16443	protein-coding gene	gene with protein product		609758	"T-cell lymphoma breakpoint associated target 1"	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.323delG	6.37:g.124979381delG	ENSP00000357402:p.Trp108fs		Q8IYR4|Q8TF67	Frame_Shift_Del	DEL	ENST00000368417.1	37	CCDS34526.1																																																																																				0.463	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		-	124979381	G	-	124979381	7	5	274	1	0	1	0	1	0	0	0	0	10438	1357	47	0	337	0	NKAIN2	6	124979381	Frame_Shift_Del	DEL	G	TCGA-B8-4621-01A-01D-1501-10	73061465	124979381	46135686	28	16433											
PTPN12	5782	broad.mit.edu	37	7	77166962	77166962	+	Splice_Site	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:77166962G>A	ENST00000248594.6	+	1	371	c.99G>A	c.(97-99)atG>atA	p.M33I	PTPN12_ENST00000415482.2_5'Flank|PTPN12_ENST00000435495.2_5'Flank	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	33	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.M33I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GGGACTTCATGGTGAGTCTCT	0.617																																																1	Substitution - Missense(1)	kidney(1)											43	38	40					7																	77166962		2202	4300	6502	SO:0001630	splice_region_variant	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.99+1G>A	7.37:g.77166962G>A			A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	g	10.22	1.290635	0.23564	.	.	ENSG00000127947	ENST00000248594	T	0.29917	1.55	2.98	2.98	0.34508	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.714785	0.14193	N	0.335250	T	0.27731	0.0682	L	0.45137	1.4	0.80722	D	1	B	0.18610	0.029	B	0.15052	0.012	T	0.19549	-1.0302	10	0.59425	D	0.04	.	12.9014	0.58126	0.0:0.0:1.0:0.0	.	33	Q05209	PTN12_HUMAN	I	33	ENSP00000248594:M33I	ENSP00000248594:M33I	M	+	3	0	PTPN12	77004898	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	6.907000	0.75724	1.975000	0.57531	0.556000	0.70494	ATG		0.617	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		Missense_Mutation	A	77166962	G	A	77166962	5	1	274	1	0	0	0	0	0	0	1	0	12787	1362	47	2	101	2	PTPN12	7	77166962	Splice_Site	SNP	G	TCGA-B8-4621-01A-01D-1501-10		77166962	81971701	29	16434											
ADAM22	53616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	87795203	87795203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:87795203C>A	ENST00000265727.7	+	24	2212	c.2133C>A	c.(2131-2133)tgC>tgA	p.C711*	ADAM22_ENST00000398201.4_Nonsense_Mutation_p.C711*|ADAM22_ENST00000398209.3_Nonsense_Mutation_p.C711*|ADAM22_ENST00000315984.7_Nonsense_Mutation_p.C711*|ADAM22_ENST00000398204.4_Nonsense_Mutation_p.C711*			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	711	EGF-like.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C711*(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTTCTGATTGCAACACTTACT	0.388																																																3	Substitution - Nonsense(3)	kidney(3)											144	134	137					7																	87795203		1932	4139	6071	SO:0001587	stop_gained	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2133C>A	7.37:g.87795203C>A	ENSP00000265727:p.Cys711*		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Nonsense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.671346|8.671346	0.98908|0.98908	.|.	.|.	ENSG00000008277|ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930|ENST00000413139	.|.	.|.	.|.	5.88|5.88	2.03|2.03	0.26663|0.26663	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.51126	.|0.1656	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58808	.|-0.7571	.|3	0.02654|.	T|.	1|.	.|.	10.5183|10.5183	0.44903|0.44903	0.0:0.7239:0.0:0.2761|0.0:0.7239:0.0:0.2761	.|.	.|.	.|.	.|.	X|K	711;711;711;711;711;678;69|11	.|.	ENSP00000265727:C711X|.	C|Q	+|+	3|1	2|0	ADAM22|ADAM22	87633139|87633139	0.993000|0.993000	0.37304|0.37304	0.993000|0.993000	0.49108|0.49108	0.981000|0.981000	0.71138|0.71138	0.368000|0.368000	0.20399|0.20399	0.393000|0.393000	0.25203|0.25203	0.650000|0.650000	0.86243|0.86243	TGC|CAA		0.388	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		A	87795203	C	A	87795203	4	1	274	1	0	0	0	0	0	1	0	0	244	718	25	4	2227	4	ADAM22	7	87795203	Nonsense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	10628241	87795203	71343460	30	16435											
MTERF	7978	broad.mit.edu	37	7	91503926	91503926	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:91503926T>G	ENST00000351870.3	-	3	275	c.182A>C	c.(181-183)aAg>aCg	p.K61T	MTERF_ENST00000406735.2_Missense_Mutation_p.K41T|MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000419292.1_Missense_Mutation_p.K41T	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		61					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.K61T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			ATTATGACACTTCACACCAAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											90	86	87					7																	91503926		2203	4300	6503	SO:0001583	missense	7978																														ENST00000351870.3:c.182A>C	7.37:g.91503926T>G	ENSP00000248643:p.Lys61Thr		A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	T	3.993	-0.004029	0.07773	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735;ENST00000456229;ENST00000442961	T;T;T	0.19532	2.16;2.14;2.16	3.57	2.39	0.29439	.	0.633962	0.15064	N	0.282589	T	0.14743	0.0356	L	0.29908	0.895	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.21008	-1.0258	10	0.33141	T	0.24	-4.8689	9.6117	0.39668	0.0:0.0:0.177:0.823	.	61	Q99551	MTERF_HUMAN	T	41;61;41;41;61	ENSP00000414116:K41T;ENSP00000248643:K61T;ENSP00000384986:K41T	ENSP00000248643:K61T	K	-	2	0	MTERF	91341862	0.777000	0.28628	0.010000	0.14722	0.048000	0.14542	2.831000	0.48144	0.713000	0.32060	0.482000	0.46254	AAG		0.368	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1			G	91503926	T	G	91503926	3	3	274	1	0	0	0	0	1	0	0	0	9920	1609	56	5	1021	5	MTERF	7	91503926	Missense_Mutation	SNP	T	TCGA-B8-4621-01A-01D-1501-10	3708723	91503926	67634737	31	16436											
MCM7	4176	broad.mit.edu;ucsc.edu	37	7	99693479	99693479	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:99693479T>C	ENST00000303887.5	-	11	2158	c.1513A>G	c.(1513-1515)Ata>Gta	p.I505V	MIR25_ENST00000384816.1_RNA|MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.I329V	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	505	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.I505V(1)|p.I329V(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTAGCTGTATGTTCTGCTCC	0.617																																																2	Substitution - Missense(2)	kidney(2)											106	100	102					7																	99693479		2203	4300	6503	SO:0001583	missense	4176				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1513A>G	7.37:g.99693479T>C	ENSP00000307288:p.Ile505Val		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.427193	0.43122	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.07567	3.18;3.18	5.43	2.98	0.34508	ATPase, AAA+ type, core (1);	0.170752	0.50627	N	0.000116	T	0.06416	0.0165	L	0.31804	0.96	0.44462	D	0.99739	B	0.06786	0.001	B	0.18561	0.022	T	0.27297	-1.0078	10	0.39692	T	0.17	-16.384	7.9139	0.29806	0.0:0.1849:0.0:0.8151	.	505	P33993	MCM7_HUMAN	V	505;442;398;329	ENSP00000307288:I505V;ENSP00000346171:I329V	ENSP00000307288:I505V	I	-	1	0	MCM7	99531415	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.033000	0.49743	1.030000	0.39839	0.533000	0.62120	ATA		0.617	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			C	99693479	T	C	99693479	3	2	274	1	0	0	0	0	1	0	0	0	9394	1464	51	3	666	3	MCM7	7	99693479	Missense_Mutation	SNP	T	TCGA-B8-4621-01A-01D-1501-10	8189553	99693479	59445184	32	16437											
PNPLA8	50640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	108143077	108143077	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:108143077T>A	ENST00000422087.1	-	6	1622	c.1216A>T	c.(1216-1218)Att>Ttt	p.I406F	PNPLA8_ENST00000453144.1_Missense_Mutation_p.I306F|PNPLA8_ENST00000426128.2_Missense_Mutation_p.I406F|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000436062.1_Missense_Mutation_p.I406F|PNPLA8_ENST00000388728.5_Missense_Mutation_p.I406F|PNPLA8_ENST00000257694.8_Missense_Mutation_p.I406F	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	406					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.I406F(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AAATATGGAATAATTCTTTCC	0.338																																																1	Substitution - Missense(1)	kidney(1)											52	55	54					7																	108143077		2203	4300	6503	SO:0001583	missense	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1216A>T	7.37:g.108143077T>A	ENSP00000410804:p.Ile406Phe		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923025	0.73213	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	6.08	4.75	0.60458	.	0.102804	0.64402	D	0.000004	T	0.20536	0.0494	M	0.65975	2.015	0.58432	D	0.999993	P	0.36683	0.565	B	0.34779	0.189	T	0.02991	-1.1085	10	0.62326	D	0.03	.	12.8137	0.57652	0.0:0.0729:0.0:0.9271	.	406	Q9NP80	PLPL8_HUMAN	F	406;406;406;406;306;406;306	ENSP00000394988:I406F;ENSP00000257694:I406F;ENSP00000373380:I406F;ENSP00000410804:I406F;ENSP00000387789:I306F;ENSP00000406779:I406F;ENSP00000402274:I306F	ENSP00000257694:I406F	I	-	1	0	PNPLA8	107930313	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.858000	0.39408	2.333000	0.79357	0.482000	0.46254	ATT		0.338	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		A	108143077	T	A	108143077	3	1	274	1	0	0	0	0	1	0	0	0	12173	1406	49	5	1160	5	PNPLA8	7	108143077	Missense_Mutation	SNP	T	TCGA-B8-4621-01A-01D-1501-10	8449598	108143077	50995586	33	16438											
PRSS1	5644	broad.mit.edu;hgsc.bcm.edu	37	7	142458497	142458497	+	Silent	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr7:142458497C>A	ENST00000311737.7	+	2	138	c.132C>A	c.(130-132)ggC>ggA	p.G44G	PRSS1_ENST00000486171.1_Silent_p.G44G	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	44	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.G44G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TGAATTCTGGCTACCACTTCT	0.557																																																1	Substitution - coding silent(1)	kidney(1)											114	112	113					7																	142458497		2203	4300	6503	SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.132C>A	7.37:g.142458497C>A			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.557	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			A	142458497	C	A	142458497	2	1	274	1	0	0	0	0	0	0	0	1	12619	784	28	4		4	PRSS1	7	142458497	Silent	SNP	C	TCGA-B8-4621-01A-01D-1501-10	34315420	142458497	16680166	34	16439											
C9orf93	203238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	15729739	15729739	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:15729739G>C	ENST00000380701.3	+	16	2320	c.1992G>C	c.(1990-1992)aaG>aaC	p.K664N	CCDC171_ENST00000297641.3_Missense_Mutation_p.K664N	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	664								p.K664N(1)									ACAGACAAAAGAAGGAACTAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											97	99	98					9																	15729739		2203	4299	6502	SO:0001583	missense	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1992G>C	9.37:g.15729739G>C	ENSP00000370077:p.Lys664Asn		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608163	0.46527	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.19806	2.12;2.12	5.61	3.76	0.43208	.	0.161262	0.53938	D	0.000055	T	0.28300	0.0699	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74348	0.983;0.964;0.976	T	0.02026	-1.1227	10	0.32370	T	0.25	-19.5765	9.7893	0.40695	0.2271:0.0:0.7729:0.0	.	672;664;664	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	N	664	ENSP00000297641:K664N;ENSP00000370077:K664N	ENSP00000297641:K664N	K	+	3	2	C9orf93	15719739	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.823000	0.39062	1.360000	0.45960	0.585000	0.79938	AAG		0.468	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		C	15729739	G	C	15729739	3	2	274	1	0	0	0	0	1	0	0	0	2508	933	33	4	2050	4	C9orf93	9	15729739	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10		15729739	125483692	35	16440											
TAF1L	138474	broad.mit.edu;hgsc.bcm.edu	37	9	32633474	32633474	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:32633474A>T	ENST00000242310.4	-	1	2193	c.2104T>A	c.(2104-2106)Tat>Aat	p.Y702N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	702					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.Y702N(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTCACTATATTCTGCAAGA	0.448																																																1	Substitution - Missense(1)	kidney(1)											170	161	164					9																	32633474		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2104T>A	9.37:g.32633474A>T	ENSP00000418379:p.Tyr702Asn		Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.543658	0.45280	.	.	ENSG00000122728	ENST00000242310	T	0.24723	1.84	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.92604	3.325	0.54753	D	0.999981	D	0.89917	1.0	D	0.83275	0.996	T	0.52771	-0.8531	10	0.87932	D	0	.	5.4928	0.16785	0.9999:0.0:1.0E-4:0.0	.	702	Q8IZX4	TAF1L_HUMAN	N	702	ENSP00000418379:Y702N	ENSP00000418379:Y702N	Y	-	1	0	TAF1L	32623474	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	5.876000	0.69667	0.530000	0.28619	0.164000	0.16699	TAT		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			T	32633474	A	T	32633474	3	4	274	1	0	0	0	0	1	0	0	0	15528	449	16	5	3380	5	TAF1L	9	32633474	Missense_Mutation	SNP	A	TCGA-B8-4621-01A-01D-1501-10	16903735	32633474	108579957	36	16441											
HNRNPK	3190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86592692	86592692	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:86592692G>T	ENST00000376264.2	-	4	326	c.68C>A	c.(67-69)cCt>cAt	p.P23H	HNRNPK_ENST00000360384.5_Missense_Mutation_p.P23H|HNRNPK_ENST00000376281.4_Missense_Mutation_p.P23H|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P23H|HNRNPK_ENST00000376263.3_Missense_Mutation_p.P23H	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	23	Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)	p.P23H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						ATCTTCTGCAGGGCGTTTACC	0.368																																																1	Substitution - Missense(1)	kidney(1)											57	55	56					9																	86592692		2202	4299	6501	SO:0001583	missense	3190				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.68C>A	9.37:g.86592692G>T	ENSP00000365440:p.Pro23His		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789608	0.90367	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156	T;T;T;T;T	0.49139	0.79;0.8;0.79;0.8;0.8	5.03	5.03	0.67393	ROK, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.996;0.999;1.0;0.997	T	0.61983	-0.6950	10	0.52906	T	0.07	-3.529	18.7965	0.91995	0.0:0.0:1.0:0.0	.	23;23;23;23;23;23;23;23	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	H	23	ENSP00000365458:P23H;ENSP00000365440:P23H;ENSP00000365439:P23H;ENSP00000317788:P23H;ENSP00000353552:P23H	ENSP00000317788:P23H	P	-	2	0	HNRNPK	85782512	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.435000	0.97529	2.494000	0.84150	0.650000	0.86243	CCT		0.368	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			T	86592692	G	T	86592692	3	4	274	1	0	0	0	0	1	0	0	0	7271	1000	35	4	1417	4	HNRNPK	9	86592692	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	53959218	86592692	54620739	37	16442											
PTPDC1	138639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	96863956	96863956	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:96863956G>A	ENST00000375360.3	+	8	2300	c.1960G>A	c.(1960-1962)Gta>Ata	p.V654I	PTPDC1_ENST00000288976.3_Missense_Mutation_p.V706I|PTPDC1_ENST00000467049.1_3'UTR	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	654					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V706I(1)|p.V654I(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GAAGGAGCCTGTAATCACCAA	0.483																																																2	Substitution - Missense(2)	kidney(2)											172	163	166					9																	96863956		2203	4300	6503	SO:0001583	missense	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1960G>A	9.37:g.96863956G>A	ENSP00000364509:p.Val654Ile		Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301627	0.40694	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.16457	2.34;2.34	5.6	3.76	0.43208	.	0.407180	0.28577	N	0.014850	T	0.11495	0.0280	L	0.31526	0.94	0.36989	D	0.894686	B;B;B;B	0.22683	0.028;0.047;0.028;0.073	B;B;B;B	0.22880	0.016;0.036;0.016;0.042	T	0.15780	-1.0425	10	0.25106	T	0.35	-16.3437	8.188	0.31350	0.2435:0.0:0.7565:0.0	.	708;706;708;654	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	I	654;706	ENSP00000364509:V654I;ENSP00000288976:V706I	ENSP00000288976:V706I	V	+	1	0	PTPDC1	95903777	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.303000	0.33470	1.364000	0.46038	0.655000	0.94253	GTA		0.483	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		A	96863956	G	A	96863956	3	1	274	1	0	0	0	0	1	0	0	0	12779	1377	48	2	2228	2	PTPDC1	9	96863956	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	10271264	96863956	44349475	38	16443											
GOLGA2	2801	hgsc.bcm.edu	37	9	131020812	131020812	+	Missense_Mutation	SNP	C	C	A	rs143073995	byFrequency	TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:131020812C>A	ENST00000421699.2	-	21	2142	c.2130G>T	c.(2128-2130)gaG>gaT	p.E710D	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E698D|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	710	Poly-Glu.				mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						cctcctcctcctcctcatcct	0.652																																																0													41	36	38					9																	131020812		2203	4300	6503	SO:0001583	missense	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2130G>T	9.37:g.131020812C>A	ENSP00000416097:p.Glu710Asp		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	a	3.615	-0.078829	0.07141	.	.	ENSG00000167110	ENST00000421699	D	0.89746	-2.56	1.03	-2.07	0.07276	.	1.118960	0.07333	U	0.879535	T	0.76335	0.3973	N	0.08118	0	0.09310	N	1	P	0.51933	0.949	P	0.47251	0.542	T	0.67554	-0.5641	10	0.15952	T	0.53	.	4.3404	0.11106	0.0:0.5807:0.0:0.4192	.	710	Q08379	GOGA2_HUMAN	D	710	ENSP00000416097:E710D	ENSP00000416097:E710D	E	-	3	2	GOLGA2	130060633	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.550000	0.23345	-0.517000	0.06461	-0.531000	0.04308	GAG		0.652	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		A	131020812	C	A	131020812	3	1	274	1	0	0	0	0	1	0	0	0	6554	680	24	4	902	4	GOLGA2	9	131020812	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	34156856	131020812	10192619	39	16444											
ASS1	445	broad.mit.edu;hgsc.bcm.edu	37	9	133333871	133333871	+	Silent	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:133333871C>A	ENST00000372394.1	+	5	739	c.258C>A	c.(256-258)cgC>cgA	p.R86R	ASS1_ENST00000352480.5_Silent_p.R86R|ASS1_ENST00000372393.3_Silent_p.R86R			P00966	ASSY_HUMAN	argininosuccinate synthase 1	86			R -> C (in CTLN1). {ECO:0000269|PubMed:1943692}.|R -> H (in CTLN1). {ECO:0000269|PubMed:12815590}.		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)	p.R86R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ATGAGGACCGCTACCTCCTGG	0.617																																																1	Substitution - coding silent(1)	kidney(1)											57	55	56					9																	133333871		2203	4300	6503	SO:0001819	synonymous_variant	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.258C>A	9.37:g.133333871C>A			Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP	ENST00000372394.1	37	CCDS6933.1																																																																																				0.617	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		A	133333871	C	A	133333871	2	1	274	1	0	0	0	0	0	0	0	1	1061	784	28	4		4	ASS1	9	133333871	Silent	SNP	C	TCGA-B8-4621-01A-01D-1501-10	2313059	133333871	7879560	40	16445											
KCNT1	57582	broad.mit.edu;hgsc.bcm.edu	37	9	138662896	138662896	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:138662896G>A	ENST00000263604.3	+	18	1906	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	KCNT1_ENST00000491806.2_Missense_Mutation_p.E622K|KCNT1_ENST00000371757.2_Missense_Mutation_p.E655K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E610K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E616K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E636K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E636K|KCNT1_ENST00000298480.5_Missense_Mutation_p.E655K			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	636					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.E655K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGGGCTGCACGAGGGTCCGGC	0.652																																																1	Substitution - Missense(1)	kidney(1)											37	34	35					9																	138662896		2203	4300	6503	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1906G>A	9.37:g.138662896G>A	ENSP00000263604:p.Glu636Lys		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	G	8.071	0.770358	0.15983	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.21932	1.99;1.98;1.98;1.98	3.47	2.53	0.30540	.	0.132125	0.48286	U	0.000184	T	0.15046	0.0363	L	0.29908	0.895	0.35573	D	0.805652	B;B;B;B	0.15719	0.008;0.002;0.014;0.008	B;B;B;B	0.11329	0.004;0.003;0.006;0.004	T	0.12837	-1.0532	10	0.28530	T	0.3	-37.0084	12.3901	0.55355	0.0:0.1714:0.8286:0.0	.	622;655;610;636	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	K	610;655;655;616;622;636;636;636	ENSP00000417851:E610K;ENSP00000298480:E655K;ENSP00000360822:E655K;ENSP00000263604:E636K	ENSP00000263604:E636K	E	+	1	0	KCNT1	137802717	0.758000	0.28405	0.109000	0.21407	0.304000	0.27724	1.033000	0.30191	0.601000	0.29879	0.467000	0.42956	GAG		0.652	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		A	138662896	G	A	138662896	3	1	274	1	0	0	0	0	1	0	0	0	8093	1059	37	1	2033	1	KCNT1	9	138662896	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	5329025	138662896	2550535	41	16446											
FAM166A	401565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140139762	140139762	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr9:140139762G>T	ENST00000344774.4	-	3	573	c.519C>A	c.(517-519)caC>caA	p.H173Q	FAM166A_ENST00000388932.2_Missense_Mutation_p.H173Q	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	173						nucleus (GO:0005634)		p.H173Q(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TGGCTGCCTGGTGCTGCCTGG	0.657																																																1	Substitution - Missense(1)	kidney(1)											55	55	55					9																	140139762		2203	4300	6503	SO:0001583	missense	401565			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.519C>A	9.37:g.140139762G>T	ENSP00000344729:p.His173Gln		A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	1.419	-0.573420	0.03882	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.23	0.711	0.18162	.	1.978820	0.02228	N	0.064622	T	0.19725	0.0474	N	0.16478	0.41	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.12243	-1.0555	9	0.07325	T	0.83	-3.7428	3.381	0.07255	0.3761:0.2017:0.4221:0.0	.	173	Q6J272	F166A_HUMAN	Q	173;173;200	.	ENSP00000344729:H173Q	H	-	3	2	FAM166A	139259583	0.017000	0.18338	0.075000	0.20258	0.009000	0.06853	0.213000	0.17521	0.219000	0.20840	-0.264000	0.10439	CAC		0.657	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		T	140139762	G	T	140139762	3	4	274	1	0	0	0	0	1	0	0	0	5483	1252	44	4	454	4	FAM166A	9	140139762	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	1476866	140139762	1073669	42	16447											
ADARB2	105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	1229304	1229304	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr10:1229304delG	ENST00000381312.1	-	10	2374	c.2049delC	c.(2047-2049)agcfs	p.S683fs	ADARB2_ENST00000381310.3_Frame_Shift_Del_p.S192fs|ADARB2_ENST00000381305.1_Frame_Shift_Del_p.S85fs	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	683	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGTCCGTGTGCTCAGCTGCG	0.567																																																0													55	55	55					10																	1229304		2202	4300	6502	SO:0001589	frameshift_variant	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2049delC	10.37:g.1229304delG	ENSP00000370713:p.Ser683fs		B2RPJ5|Q5VUT6|Q5VW42	Frame_Shift_Del	DEL	ENST00000381312.1	37	CCDS7058.1																																																																																				0.567	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		-	1229304	G	-	1229304	7	5	274	1	0	1	0	1	0	0	0	0	283	1310	46	0	174	0	ADARB2	10	1229304	Frame_Shift_Del	DEL	G	TCGA-B8-4621-01A-01D-1501-10		1229304	134305443	43	16448											
PTEN	5728	hgsc.bcm.edu	37	10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-	rs146650273		TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	TACT	TACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr10:89720799_89720802delTACT	ENST00000371953.3	+	8	2307_2310	c.950_953delTACT	c.(949-954)gtacttfs	p.VL317fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	317	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.L318fs*2(19)|p.T319fs*1(12)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	91	Deletion - Frameshift(48)|Whole gene deletion(37)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	endometrium(23)|central_nervous_system(18)|prostate(17)|breast(8)|skin(7)|ovary(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|thyroid(1)|large_intestine(1)																																								SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.950_953delTACT	10.37:g.89720803_89720806delTACT	ENSP00000361021:p.Val317fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89720802	TACT	-	89720799	7	5	274	1	0	1	0	1	0	0	0	0	12743	1638	57	0	980	0	PTEN	10	89720799	Frame_Shift_Del	DEL	TACT	TCGA-B8-4621-01A-01D-1501-10	88491495	89720799	45813948	44	16449											
PPRC1	23082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103898406	103898406	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr10:103898406G>A	ENST00000278070.2	+	3	412	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	PPRC1_ENST00000413464.2_Missense_Mutation_p.V125M|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V125M(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCAGAATGAAGTGTCGCTGCT	0.493																																																1	Substitution - Missense(1)	kidney(1)											111	101	104					10																	103898406		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.373G>A	10.37:g.103898406G>A	ENSP00000278070:p.Val125Met		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385172	0.42308	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.58060	0.36;0.36	4.97	2.64	0.31445	.	0.395578	0.21562	N	0.072558	T	0.27663	0.0680	N	0.12182	0.205	0.23320	N	0.997913	B;B	0.26195	0.144;0.144	B;B	0.15870	0.014;0.014	T	0.14727	-1.0462	10	0.17369	T	0.5	.	7.8452	0.29421	0.1233:0.4577:0.419:0.0	.	125;125	E7EVG6;Q5VV67	.;PPRC1_HUMAN	M	125	ENSP00000278070:V125M;ENSP00000399743:V125M	ENSP00000278070:V125M	V	+	1	0	PPRC1	103888396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.679000	0.46909	0.378000	0.24764	0.462000	0.41574	GTG		0.493	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		A	103898406	G	A	103898406	3	1	274	1	0	0	0	0	1	0	0	0	12415	1029	36	2	383	2	PPRC1	10	103898406	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	14177607	103898406	31636341	45	16450											
PITX3	5309	hgsc.bcm.edu	37	10	103991455	103991456	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr10:103991455_103991456insG	ENST00000370002.3	-	3	363_364	c.210_211insC	c.(208-213)accagcfs	p.S71fs	PITX3_ENST00000539804.1_Frame_Shift_Ins_p.S71fs	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	71					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCTGCTGGCTGGTGAAGTGCG	0.658																																																0																																										SO:0001589	frameshift_variant	5309				CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"Homeoboxes / PRD class"	9006	protein-coding gene	gene with protein product		602669	"paired-like homeodomain transcription factor 3", "anterior segment mesenchymal dysgenesis"	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.211dupC	10.37:g.103991457_103991457dupG	ENSP00000359019:p.Ser71fs		Q5VZL2	Frame_Shift_Ins	INS	ENST00000370002.3	37	CCDS7532.1																																																																																				0.658	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1			G	103991456	-	G	103991455	7	5	274	1	0	1	1	0	0	0	0	0	11958	1580	55	0	705	0	PITX3	10	103991455	Frame_Shift_Ins	INS	-	TCGA-B8-4621-01A-01D-1501-10	93049	103991455	31543292	46	16451											
ZNF195	7748	broad.mit.edu;ucsc.edu	37	11	3380467	3380467	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:3380467A>G	ENST00000399602.4	-	6	1897	c.1771T>C	c.(1771-1773)Tca>Cca	p.S591P	ZNF195_ENST00000343338.7_Missense_Mutation_p.S523P|ZNF195_ENST00000005082.9_Missense_Mutation_p.S568P|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Missense_Mutation_p.S572P|ZNF195_ENST00000429541.2_Missense_Mutation_p.S523P|ZNF195_ENST00000354599.6_Missense_Mutation_p.S519P	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S519P(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATAAGGTTTGAGGACTGGGTA	0.408																																																1	Substitution - Missense(1)	kidney(1)											92	96	95					11																	3380467		2056	4222	6278	SO:0001583	missense	7748				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1771T>C	11.37:g.3380467A>G	ENSP00000382511:p.Ser591Pro		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	a	12.29	1.894176	0.33442	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.01705	4.68;4.68;4.68;4.68;4.68;4.68	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07098	0.0180	M	0.85041	2.73	0.09310	N	1	P;B;D;B;D;B	0.64830	0.782;0.086;0.994;0.14;0.989;0.14	P;B;P;B;P;B	0.58391	0.838;0.013;0.81;0.02;0.651;0.02	T	0.18304	-1.0341	9	0.72032	D	0.01	.	4.5644	0.12175	1.0:0.0:0.0:0.0	.	572;450;568;523;591;519	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	P	519;591;523;523;568;572	ENSP00000346613:S519P;ENSP00000382511:S591P;ENSP00000344483:S523P;ENSP00000387998:S523P;ENSP00000005082:S568P;ENSP00000435828:S572P	ENSP00000005082:S568P	S	-	1	0	ZNF195	3337043	0.000000	0.05858	0.002000	0.10522	0.209000	0.24338	-1.131000	0.03238	0.535000	0.28714	0.254000	0.18369	TCA		0.408	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			G	3380467	A	G	3380467	3	3	274	1	0	0	0	0	1	0	0	0	17763	304	11	3	122	3	ZNF195	11	3380467	Missense_Mutation	SNP	A	TCGA-B8-4621-01A-01D-1501-10		3380467	131626049	47	16452											
CAT	847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	34482847	34482847	+	Missense_Mutation	SNP	A	A	G	rs148712764		TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:34482847A>G	ENST00000241052.4	+	9	1195	c.1106A>G	c.(1105-1107)aAt>aGt	p.N369S		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	369					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.N369S(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CTGGGACCCAATTATCTTCAT	0.507													A|||	1	0.000199681	0.0	0.0	5008	,	,		19066	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											138	132	134					11																	34482847		2202	4298	6500	SO:0001583	missense	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1106A>G	11.37:g.34482847A>G	ENSP00000241052:p.Asn369Ser		A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	CCDS7891.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	22.2	4.263091	0.80358	.	.	ENSG00000121691	ENST00000241052	D	0.94613	-3.47	4.98	3.85	0.44370	Catalase domain (1);Catalase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98391	0.9465	H	0.99487	4.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97498	1.0058	10	0.87932	D	0	-33.5207	10.3791	0.44101	0.9226:0.0:0.0774:0.0	.	369	P04040	CATA_HUMAN	S	369	ENSP00000241052:N369S	ENSP00000241052:N369S	N	+	2	0	CAT	34439423	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.339000	0.96797	0.764000	0.33197	0.455000	0.32223	AAT		0.507	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		G	34482847	A	G	34482847	3	3	274	1	0	0	0	0	1	0	0	0	2688	101	4	3	1140	3	CAT	11	34482847	Missense_Mutation	SNP	A	TCGA-B8-4621-01A-01D-1501-10	31102380	34482847	100523669	48	16453											
MAPK8IP1	9479	hgsc.bcm.edu;ucsc.edu	37	11	45925694	45925694	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:45925694G>C	ENST00000241014.2	+	7	1818	c.1648G>C	c.(1648-1650)Gag>Cag	p.E550Q	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.E540Q|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	550	Interaction with VRK2.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GGTCACCAAGGAGCCCGAGCA	0.597																																																0													65	52	56					11																	45925694		2203	4299	6502	SO:0001583	missense	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1648G>C	11.37:g.45925694G>C	ENSP00000241014:p.Glu550Gln		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316315	0.60524	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.14766	2.48;2.48	5.41	5.41	0.78517	Src homology-3 domain (1);Pleckstrin homology-type (1);	0.103551	0.64402	D	0.000004	T	0.13586	0.0329	L	0.29908	0.895	0.80722	D	1	B	0.18310	0.027	B	0.22601	0.04	T	0.09707	-1.0662	10	0.27785	T	0.31	-31.0205	19.5562	0.95349	0.0:0.0:1.0:0.0	.	550	Q9UQF2	JIP1_HUMAN	Q	550;540	ENSP00000241014:E550Q;ENSP00000378991:E540Q	ENSP00000241014:E550Q	E	+	1	0	MAPK8IP1	45882270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.698000	0.92095	0.561000	0.74099	GAG		0.597	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		C	45925694	G	C	45925694	3	2	274	1	0	0	0	0	1	0	0	0	9286	1175	41	4	1674	4	MAPK8IP1	11	45925694	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	11442847	45925694	89080822	49	16454											
CLCF1	23529	hgsc.bcm.edu;ucsc.edu	37	11	67135087	67135089	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	CCA	CCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:67135087_67135089delCCA	ENST00000312438.7	-	2	222_224	c.25_27delTGG	c.(25-27)tggdel	p.W9del	CLCF1_ENST00000533438.1_5'UTR|AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000528474.1_5'UTR	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	9					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CTAACATCCCCCACGAGTCCCCT	0.67																																																0																																										SO:0001651	inframe_deletion	23529			BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"B-cell stimulating factor 3", "cold-induced sweating syndrome 2", "novel neurotrophin-1"	607672	"CRLF1 associated cytokine-like factor 1"			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.25_27delTGG	11.37:g.67135087_67135089delCCA	ENSP00000309338:p.Trp9del		B4DNT4|Q6NZA4	In_Frame_Del	DEL	ENST00000312438.7	37	CCDS31617.1																																																																																				0.67	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1	NM_013246		-	67135089	CCA	-	67135087	7	5	274	1	0	1	0	1	0	0	0	0	3463	624	22	0	658	0	CLCF1	11	67135087	In_Frame_Del	DEL	CCA	TCGA-B8-4621-01A-01D-1501-10	21209393	67135087	67871429	50	16455											
PRDM10	56980	broad.mit.edu;hgsc.bcm.edu	37	11	129805103	129805103	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:129805103C>G	ENST00000360871.3	-	9	1281	c.1050G>C	c.(1048-1050)gaG>gaC	p.E350D	PRDM10_ENST00000528746.1_Missense_Mutation_p.E324D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E264D|PRDM10_ENST00000358825.5_Missense_Mutation_p.E350D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E264D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E264D	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.E350D(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCTTCTCTTGCTCTCGAAGAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											108	105	106					11																	129805103		2201	4297	6498	SO:0001583	missense	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1050G>C	11.37:g.129805103C>G	ENSP00000354118:p.Glu350Asp		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	c	18.83	3.708032	0.68615	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.12465	2.69;2.71;2.69;2.69;2.75;2.68;2.74	5.11	3.23	0.37069	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	L	0.51422	1.61	0.52501	D	0.999956	D;D;D;D;D;D;D	0.71674	0.994;0.998;0.99;0.994;0.996;0.994;0.99	D;D;D;D;D;P;D	0.76071	0.97;0.913;0.98;0.97;0.987;0.876;0.98	T	0.00912	-1.1517	10	0.44086	T	0.13	-36.6425	8.277	0.31879	0.0:0.7604:0.0:0.2396	.	264;350;350;350;264;264;264	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	D	350;264;350;264;324;264;67	ENSP00000351686:E350D;ENSP00000302669:E264D;ENSP00000354118:E350D;ENSP00000398431:E264D;ENSP00000431262:E324D;ENSP00000432237:E264D;ENSP00000435940:E67D	ENSP00000302669:E264D	E	-	3	2	PRDM10	129310313	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.188000	0.32102	1.168000	0.42723	0.486000	0.48141	GAG		0.428	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		G	129805103	C	G	129805103	3	3	274	1	0	0	0	0	1	0	0	0	12456	796	28	4	2488	4	PRDM10	11	129805103	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	62670016	129805103	5201413	51	16456											
ADAMTS8	11095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	130286146	130286146	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr11:130286146C>T	ENST00000257359.6	-	4	1882	c.1176G>A	c.(1174-1176)atG>atA	p.M392I		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	392	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.M421I(1)|p.V392V(1)|p.M392I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ACAGCGGTGCCATCACGTGGT	0.672																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)											31	40	37					11																	130286146		2142	4221	6363	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1176G>A	11.37:g.130286146C>T	ENSP00000257359:p.Met392Ile		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295369	0.95574	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.96265	-3.96	5.25	5.25	0.73442	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99517	1.0957	10	0.87932	D	0	.	19.2117	0.93758	0.0:1.0:0.0:0.0	.	392	Q9UP79	ATS8_HUMAN	I	392;421	ENSP00000257359:M392I	ENSP00000257359:M392I	M	-	3	0	ADAMTS8	129791356	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.445000	0.80570	2.612000	0.88384	0.655000	0.94253	ATG		0.672	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		T	130286146	C	T	130286146	3	4	274	1	0	0	0	0	1	0	0	0	272	594	21	2	1517	2	ADAMTS8	11	130286146	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	481043	130286146	4720370	52	16457											
RAD52	5893	hgsc.bcm.edu;ucsc.edu	37	12	1042154	1042154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr12:1042154delA	ENST00000358495.3	-	2	209	c.71delT	c.(70-72)ttafs	p.L24fs	RAD52_ENST00000544742.1_Frame_Shift_Del_p.L24fs|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000536177.1_Frame_Shift_Del_p.L24fs|RAD52_ENST00000541619.1_Frame_Shift_Del_p.L24fs|RAD52_ENST00000430095.2_Frame_Shift_Del_p.L24fs|RAD52_ENST00000545564.1_Frame_Shift_Del_p.L24fs	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	24					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCCAAAGCATAACACTGAGCC	0.478								Homologous recombination																																								0													221	226	224					12																	1042154		2203	4300	6503	SO:0001589	frameshift_variant	5893				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"RAD52 (S. cerevisiae) homolog"			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.71delT	12.37:g.1042154delA	ENSP00000351284:p.Leu24fs		Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Frame_Shift_Del	DEL	ENST00000358495.3	37	CCDS8507.2																																																																																				0.478	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		-	1042154	A	-	1042154	7	5	274	1	0	1	0	1	0	0	0	0	12997	372	13	0	1229	0	RAD52	12	1042154	Frame_Shift_Del	DEL	A	TCGA-B8-4621-01A-01D-1501-10		1042154	132809741	53	16458											
MANSC1	54682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	12483330	12483330	+	Silent	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr12:12483330T>A	ENST00000535902.1	-	4	1490	c.927A>T	c.(925-927)gcA>gcT	p.A309A	MANSC1_ENST00000545735.1_Silent_p.A228A|MANSC1_ENST00000396349.3_Silent_p.A275A			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	309	Thr-rich.					integral component of membrane (GO:0016021)		p.A309A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGTCCGTAGGTGCCTGAAAGG	0.478																																																1	Substitution - coding silent(1)	kidney(1)											107	99	102					12																	12483330		2203	4300	6503	SO:0001819	synonymous_variant	54682			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.927A>T	12.37:g.12483330T>A			Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	CCDS8648.1																																																																																				0.478	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		A	12483330	T	A	12483330	2	1	274	1	0	0	0	0	0	0	0	1	9226	1683	59	5		5	MANSC1	12	12483330	Silent	SNP	T	TCGA-B8-4621-01A-01D-1501-10	11441176	12483330	121368565	54	16459											
SLCO1B3	28234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21028191	21028191	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr12:21028191G>C	ENST00000381545.3	+	9	969	c.750G>C	c.(748-750)aaG>aaC	p.K250N	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.K250N|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.K250N|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.K250N	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	250					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.K250N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TAACTCCTAAGGACTCTCGTT	0.373																																																1	Substitution - Missense(1)	kidney(1)											229	232	231					12																	21028191		2203	4300	6503	SO:0001583	missense	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.750G>C	12.37:g.21028191G>C	ENSP00000370956:p.Lys250Asn		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	0.626	-0.819164	0.02776	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	3.92	-2.03	0.07365	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.550502	0.20556	N	0.090009	T	0.17323	0.0416	N	0.16098	0.37	0.58432	D	0.999996	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.18561	0.015;0.022;0.022	T	0.06463	-1.0825	10	0.23302	T	0.38	.	1.6569	0.02783	0.1635:0.1247:0.3341:0.3777	.	250;250;250	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	N	250;250;250;250;74;250	ENSP00000442000:K250N;ENSP00000261196:K250N;ENSP00000370956:K250N;ENSP00000451758:K250N;ENSP00000443225:K74N;ENSP00000441269:K250N	ENSP00000441269:K250N	K	+	3	2	SLCO1B3;RP11-545J16.1	20919458	0.000000	0.05858	0.756000	0.31282	0.010000	0.07245	-0.735000	0.04888	-0.241000	0.09681	-1.255000	0.01485	AAG		0.373	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		C	21028191	G	C	21028191	3	2	274	1	0	0	0	0	1	0	0	0	14730	991	35	4	776	4	SLCO1B3	12	21028191	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	8544861	21028191	112823704	55	16460											
HSP90B1	7184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104341410	104341410	+	Splice_Site	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr12:104341410G>A	ENST00000299767.5	+	18	2564		c.e18-1		C12orf73_ENST00000543740.2_5'Flank	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1						actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.?(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TTTATTTACAGGAATCTACAG	0.323																																																1	Unknown(1)	kidney(1)											58	59	59					12																	104341410		2203	4300	6503	SO:0001630	splice_region_variant	7184			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2383-1G>A	12.37:g.104341410G>A			Q96A97	Splice_Site	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277735	0.59758	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0112	0.92874	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSP90B1	102865540	1.000000	0.71417	0.990000	0.47175	0.735000	0.41995	7.223000	0.78033	2.550000	0.86006	0.655000	0.94253	.		0.323	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299	Intron	A	104341410	G	A	104341410	5	1	274	1	0	0	0	0	0	0	1	0	7405	1014	35	2	2452	2	HSP90B1	12	104341410	Splice_Site	SNP	G	TCGA-B8-4621-01A-01D-1501-10	83313219	104341410	29510485	56	16461											
USP12	219333	broad.mit.edu;hgsc.bcm.edu	37	13	27680064	27680064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr13:27680064G>T	ENST00000282344.6	-	3	403	c.147C>A	c.(145-147)taC>taA	p.Y49*		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	49	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Y49*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CTGAATTGCAGTAGCAGGTAT	0.368																																					Ovarian(37;808 911 7590 44442 44991)											1	Substitution - Nonsense(1)	kidney(1)											40	39	39					13																	27680064		2203	4300	6503	SO:0001587	stop_gained	219333			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.147C>A	13.37:g.27680064G>T	ENSP00000282344:p.Tyr49*		A8K0X0|Q5VZV3|Q8TC49	Nonsense_Mutation	SNP	ENST00000282344.6	37	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	39	7.604286	0.98384	.	.	ENSG00000152484	ENST00000282344	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4077	19.5544	0.95335	0.0:0.0:1.0:0.0	.	.	.	.	X	49	.	ENSP00000282344:Y49X	Y	-	3	2	USP12	26578064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.847000	0.86896	2.688000	0.91661	0.555000	0.69702	TAC		0.368	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		T	27680064	G	T	27680064	4	4	274	1	0	0	0	0	0	1	0	0	17048	1024	36	4	993	4	USP12	13	27680064	Nonsense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10		27680064	87489814	57	16462											
LECT1	11061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	53313233	53313233	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr13:53313233G>A	ENST00000377962.3	-	2	224	c.146C>T	c.(145-147)tCg>tTg	p.S49L	LECT1_ENST00000448904.2_Missense_Mutation_p.S49L			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	49					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.S49L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CACAGCTCCCGAAATGAGGAC	0.701																																																1	Substitution - Missense(1)	kidney(1)											27	37	34					13																	53313233		2202	4297	6499	SO:0001583	missense	11061			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.146C>T	13.37:g.53313233G>A	ENSP00000367198:p.Ser49Leu		Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446426	0.25987	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.28255	1.62;1.62	4.55	3.71	0.42584	.	0.368671	0.27906	N	0.017373	T	0.17619	0.0423	N	0.19112	0.55	0.32059	N	0.595936	B;B;B	0.15719	0.014;0.003;0.002	B;B;B	0.08055	0.002;0.003;0.001	T	0.15723	-1.0427	10	0.22109	T	0.4	.	8.9492	0.35779	0.0831:0.1494:0.7675:0.0	.	85;49;49	Q5TAN5;O75829-2;O75829	.;.;LECT1_HUMAN	L	49	ENSP00000388576:S49L;ENSP00000367198:S49L	ENSP00000367198:S49L	S	-	2	0	LECT1	52211234	0.993000	0.37304	0.458000	0.27068	0.304000	0.27724	2.520000	0.45554	0.887000	0.36136	0.462000	0.41574	TCG		0.701	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			A	53313233	G	A	53313233	3	1	274	1	0	0	0	0	1	0	0	0	8714	1059	37	1	882	1	LECT1	13	53313233	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	25633169	53313233	61856645	58	16463											
SCEL	8796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	78130015	78130015	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr13:78130015C>G	ENST00000349847.3	+	2	89	c.5C>G	c.(4-6)tCc>tGc	p.S2C	SCEL_ENST00000377246.3_Missense_Mutation_p.S2C|SCEL_ENST00000535157.1_Missense_Mutation_p.S2C	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	2					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.S2C(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GGCAGCATGTCCAATGTTACC	0.373																																																1	Substitution - Missense(1)	kidney(1)											136	136	136					13																	78130015		2203	4300	6503	SO:0001583	missense	8796			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.5C>G	13.37:g.78130015C>G	ENSP00000302579:p.Ser2Cys		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231628	0.58777	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.35048	1.37;1.33;1.37	5.78	5.78	0.91487	.	0.113750	0.40554	N	0.001071	T	0.61286	0.2335	M	0.74258	2.255	0.37429	D	0.913955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.66933	-0.5798	10	0.72032	D	0.01	-11.4139	15.8658	0.79063	0.0:1.0:0.0:0.0	.	2;2;2	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	C	2	ENSP00000437895:S2C;ENSP00000366454:S2C;ENSP00000302579:S2C	ENSP00000315127:S2C	S	+	2	0	SCEL	77028016	0.973000	0.33851	0.900000	0.35374	0.468000	0.32798	3.505000	0.53356	2.894000	0.99253	0.591000	0.81541	TCC		0.373	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		G	78130015	C	G	78130015	3	3	274	1	0	0	0	0	1	0	0	0	13894	855	30	4	7	4	SCEL	13	78130015	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	24816782	78130015	37039863	59	16464											
SLITRK1	114798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	84454858	84454858	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr13:84454858G>A	ENST00000377084.2	-	1	1670	c.785C>T	c.(784-786)cCt>cTt	p.P262L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	262	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.P262L(1)		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)		GTTTTTCAAAGGACACAAGTC	0.547																																																1	Substitution - Missense(1)	kidney(1)											69	73	71					13																	84454858		2203	4300	6503	SO:0001583	missense	114798			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.785C>T	13.37:g.84454858G>A	ENSP00000366288:p.Pro262Leu		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949218	0.34377	.	.	ENSG00000178235	ENST00000377084	T	0.69040	-0.37	4.71	4.71	0.59529	Cysteine-rich flanking region, C-terminal (1);	0.122752	0.56097	D	0.000034	T	0.79299	0.4422	M	0.92459	3.31	0.58432	D	0.999999	P	0.39883	0.693	P	0.48901	0.594	T	0.80091	-0.1527	10	0.33141	T	0.24	-6.2402	12.3235	0.54997	0.0:0.0:0.8304:0.1696	.	262	Q96PX8	SLIK1_HUMAN	L	262	ENSP00000366288:P262L	ENSP00000366288:P262L	P	-	2	0	SLITRK1	83352859	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.017000	0.88712	2.456000	0.83038	0.555000	0.69702	CCT		0.547	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		A	84454858	G	A	84454858	3	1	274	1	0	0	0	0	1	0	0	0	14748	1000	35	2	1309	2	SLITRK1	13	84454858	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	6324843	84454858	30715020	60	16465											
TINF2	26277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24709106	24709106	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr14:24709106A>T	ENST00000267415.7	-	9	1594	c.1253T>A	c.(1252-1254)tTt>tAt	p.F418Y	TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.F383Y|TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000558510.1_5'Flank	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	418					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)	p.F418Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CAAGGTGTCAAACTTTGTCTT	0.478									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																																							1	Substitution - Missense(1)	kidney(1)											114	116	115					14																	24709106		1896	4119	6015	SO:0001583	missense	26277	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1253T>A	14.37:g.24709106A>T	ENSP00000267415:p.Phe418Tyr		B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779006	0.31502	.	.	ENSG00000092330	ENST00000267415;ENST00000540705	D;D	0.85411	-1.98;-1.98	5.65	3.25	0.37280	.	0.076893	0.49916	N	0.000135	T	0.77994	0.4214	L	0.48362	1.52	0.80722	D	1	B;B	0.19073	0.033;0.033	B;B	0.22601	0.04;0.04	T	0.70099	-0.4965	10	0.62326	D	0.03	-9.0864	4.8544	0.13552	0.7485:0.0:0.0878:0.1637	.	383;418	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	Y	418;383	ENSP00000267415:F418Y;ENSP00000442154:F383Y	ENSP00000267415:F418Y	F	-	2	0	TINF2	23778946	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	2.138000	0.42140	0.385000	0.24970	0.460000	0.39030	TTT		0.478	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			T	24709106	A	T	24709106	3	4	274	1	0	0	0	0	1	0	0	0	15928	14	1	5	106	5	TINF2	14	24709106	Missense_Mutation	SNP	A	TCGA-B8-4621-01A-01D-1501-10		24709106	82640434	61	16466											
C14orf106	55320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45687640	45687640	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr14:45687640G>A	ENST00000310806.4	-	12	3145	c.2687C>T	c.(2686-2688)cCa>cTa	p.P896L		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	896	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P896L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTGTGCTTTGGAAGAGATGC	0.393																																																1	Substitution - Missense(1)	kidney(1)											61	59	60					14																	45687640		2203	4300	6503	SO:0001583	missense	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2687C>T	14.37:g.45687640G>A	ENSP00000309790:p.Pro896Leu		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378468	0.82682	.	.	ENSG00000129534	ENST00000310806	T	0.46451	0.87	5.37	5.37	0.77165	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	M	0.76002	2.32	0.80722	D	1	D	0.67145	0.996	D	0.67382	0.951	T	0.68179	-0.5477	10	0.87932	D	0	-11.557	16.5997	0.84810	0.0:0.0:1.0:0.0	.	896	Q6P0N0	M18BP_HUMAN	L	896	ENSP00000309790:P896L	ENSP00000309790:P896L	P	-	2	0	MIS18BP1	44757390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.449000	0.73473	2.540000	0.85666	0.591000	0.81541	CCA		0.393	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			A	45687640	G	A	45687640	3	1	274	1	0	0	0	0	1	0	0	0	1740	1348	47	2	735	2	C14orf106	14	45687640	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	20978534	45687640	61661900	62	16467											
PNMA1	9240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74180283	74180283	+	Silent	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr14:74180283A>G	ENST00000316836.3	-	1	845	c.60T>C	c.(58-60)gcT>gcC	p.A20A		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	20					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)		p.A20A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		agactaacagagctctctggg	0.527																																																1	Substitution - coding silent(1)	kidney(1)											97	106	103					14																	74180283		2203	4300	6503	SO:0001819	synonymous_variant	9240			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"Paraneoplastic Ma antigens"	9158	protein-coding gene	gene with protein product		604010	"paraneoplastic antigen MA1"			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.60T>C	14.37:g.74180283A>G			A8K4L5|O95144|Q8NG07	Silent	SNP	ENST00000316836.3	37	CCDS9818.1																																																																																				0.527	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		G	74180283	A	G	74180283	2	3	274	1	0	0	0	0	0	0	0	1	12155	291	11	3		3	PNMA1	14	74180283	Silent	SNP	A	TCGA-B8-4621-01A-01D-1501-10	28492643	74180283	33169257	63	16468											
PACS2	23241	broad.mit.edu;ucsc.edu	37	14	105843135	105843135	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr14:105843135C>T	ENST00000325438.8	+	9	1336	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	PACS2_ENST00000447393.1_Missense_Mutation_p.H278Y|PACS2_ENST00000430725.2_Missense_Mutation_p.H203Y|PACS2_ENST00000458164.2_Missense_Mutation_p.H278Y|PACS2_ENST00000547217.1_Missense_Mutation_p.H248Y			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	278					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)		p.H278Y(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCTGCGGAGCACATCCCCGA	0.677																																																1	Substitution - Missense(1)	kidney(1)											66	56	59					14																	105843135		2202	4299	6501	SO:0001583	missense	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.832C>T	14.37:g.105843135C>T	ENSP00000321834:p.His278Tyr		A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019701	0.75275	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.8	4.8	0.61643	.	0.116963	0.64402	D	0.000013	T	0.24928	0.0605	L	0.44542	1.39	0.49687	D	0.99981	P;P;D;P	0.58970	0.828;0.795;0.984;0.898	B;P;P;B	0.50490	0.37;0.491;0.642;0.354	T	0.01440	-1.1354	10	0.59425	D	0.04	-5.1126	16.4058	0.83669	0.0:1.0:0.0:0.0	.	278;278;278;279	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	Y	203;278;278;278;248	ENSP00000393524:H203Y;ENSP00000321834:H278Y;ENSP00000399732:H278Y;ENSP00000393559:H278Y;ENSP00000449525:H248Y	ENSP00000321834:H278Y	H	+	1	0	PACS2	104914180	1.000000	0.71417	0.965000	0.40720	0.925000	0.55904	7.584000	0.82572	2.200000	0.70718	0.467000	0.42956	CAC		0.677	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		T	105843135	C	T	105843135	3	4	274	1	0	0	0	0	1	0	0	0	11375	710	25	2	866	2	PACS2	14	105843135	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	31662852	105843135	1506405	64	16469											
UBR1	197131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43307885	43307885	+	Splice_Site	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr15:43307885C>A	ENST00000290650.4	-	29	3288		c.e29+1		UBR1_ENST00000382177.2_Splice_Site|UBR1_ENST00000568782.1_Splice_Site	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1						cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTTTATTTTACCTCTCTTCCT	0.358																																																1	Unknown(1)	kidney(1)											146	151	149					15																	43307885		2203	4299	6502	SO:0001630	splice_region_variant	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3209+1G>T	15.37:g.43307885C>A			O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Splice_Site	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071804	0.76301	.	.	ENSG00000159459	ENST00000290650	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6995	0.96047	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR1	41095177	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.336000	0.72954	2.890000	0.99128	0.655000	0.94253	.		0.358	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	Intron	A	43307885	C	A	43307885	5	1	274	1	0	0	0	0	0	0	1	0	16906	521	18	4	2115	4	UBR1	15	43307885	Splice_Site	SNP	C	TCGA-B8-4621-01A-01D-1501-10		43307885	59223507	65	16470											
PAQR5	54852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	69672243	69672243	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr15:69672243C>G	ENST00000340965.3	+	4	741	c.73C>G	c.(73-75)Ctg>Gtg	p.L25V	PAQR5_ENST00000395407.2_Missense_Mutation_p.L25V|PAQR5_ENST00000561153.1_Missense_Mutation_p.L25V|PAQR5_ENST00000561027.1_3'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	25					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)	p.L25V(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GCAAGGCATCCTGTTCGGCTA	0.537																																																1	Substitution - Missense(1)	kidney(1)											267	240	249					15																	69672243		2200	4298	6498	SO:0001583	missense	54852				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.73C>G	15.37:g.69672243C>G	ENSP00000343877:p.Leu25Val		Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617250	0.46736	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.27557	1.66;1.66	5.68	4.69	0.59074	.	0.052632	0.64402	D	0.000001	T	0.23210	0.0561	L	0.33339	1.005	0.44880	D	0.997896	B	0.20368	0.044	B	0.21360	0.034	T	0.03630	-1.1018	10	0.41790	T	0.15	0.0445	10.4927	0.44760	0.317:0.683:0.0:0.0	.	25	Q9NXK6	MPRG_HUMAN	V	25	ENSP00000378803:L25V;ENSP00000343877:L25V	ENSP00000343877:L25V	L	+	1	2	PAQR5	67459297	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.619000	0.36965	2.664000	0.90586	0.655000	0.94253	CTG		0.537	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		G	69672243	C	G	69672243	3	3	274	1	0	0	0	0	1	0	0	0	11440	680	24	4	79	4	PAQR5	15	69672243	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	26364358	69672243	32859149	66	16471											
THSD4	79875	hgsc.bcm.edu;ucsc.edu	37	15	71952920	71952920	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr15:71952920delG	ENST00000355327.3	+	8	1338	c.1204delG	c.(1204-1206)gggfs	p.G402fs	THSD4_ENST00000357769.4_Frame_Shift_Del_p.G42fs|THSD4_ENST00000261862.6_Frame_Shift_Del_p.G402fs|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	402					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGACAAATGTGGGGTGTGTGG	0.522																																																0													173	178	176					15																	71952920		1982	4173	6155	SO:0001589	frameshift_variant	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1204delG	15.37:g.71952920delG	ENSP00000347484:p.Gly402fs		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Frame_Shift_Del	DEL	ENST00000355327.3	37	CCDS10238.2																																																																																				0.522	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		-	71952920	G	-	71952920	7	5	274	1	0	1	0	1	0	0	0	0	15883	1348	47	0	1230	0	THSD4	15	71952920	Frame_Shift_Del	DEL	G	TCGA-B8-4621-01A-01D-1501-10	2280677	71952920	30578472	67	16472											
C15orf60	283677	hgsc.bcm.edu	37	15	73852255	73852255	+	Nonstop_Mutation	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr15:73852255T>A	ENST00000331090.6	+	6	827	c.799T>A	c.(799-801)Taa>Aaa	p.*267K	C15orf60_ENST00000560581.1_Nonstop_Mutation_p.*239K	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		0					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TTTGAGAAATTAATGCTCTAT	0.348																																																0													59	61	61					15																	73852255		1802	4065	5867	SO:0001578	stop_lost	283677																														ENST00000331090.6:c.799T>A	15.37:g.73852255T>A	ENSP00000328423:p.*267Lysext*8			Missense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	T	2.323	-0.355084	0.05138	.	.	ENSG00000183324	ENST00000331090	.	.	.	5.42	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8655	0.41140	0.0:0.0:0.3321:0.6679	.	.	.	.	K	267	.	.	X	+	1	0	C15orf60	71639308	0.005000	0.15991	0.022000	0.16811	0.073000	0.16967	0.376000	0.20535	0.874000	0.35823	0.377000	0.23210	TAA		0.348	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			A	73852255	T	A	73852255	4	1	274	1	0	0	0	0	0	0	0	0	1810	1767	61	5	821	5	C15orf60	15	73852255	Nonstop_Mutation	SNP	T	TCGA-B8-4621-01A-01D-1501-10	1899335	73852255	28679137	68	16473											
SLC28A1	9154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	85488371	85488371	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr15:85488371C>A	ENST00000286749.3	+	18	1980	c.1890C>A	c.(1888-1890)ttC>ttA	p.F630L	SLC28A1_ENST00000394573.1_Missense_Mutation_p.F630L|SLC28A1_ENST00000537624.1_Intron|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Missense_Mutation_p.F464L			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	630					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.F630L(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	ATCCAGAGTTCAGCCCAGAGG	0.557																																																1	Substitution - Missense(1)	kidney(1)											146	128	134					15																	85488371		2203	4299	6502	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1890C>A	15.37:g.85488371C>A	ENSP00000286749:p.Phe630Leu		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	9.297	1.052173	0.19827	.	.	ENSG00000156222	ENST00000538177;ENST00000286749;ENST00000394573	T;T;T	0.02863	4.13;4.76;4.76	4.32	0.0196	0.14121	.	0.364135	0.29321	N	0.012481	T	0.03477	0.0100	M	0.73962	2.25	0.09310	N	0.999997	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.43556	-0.9384	10	0.18710	T	0.47	-19.6823	4.6768	0.12715	0.0:0.4489:0.3484:0.2026	.	464;630	B7Z3L6;O00337	.;S28A1_HUMAN	L	464;630;630	ENSP00000443752:F464L;ENSP00000286749:F630L;ENSP00000378074:F630L	ENSP00000286749:F630L	F	+	3	2	SLC28A1	83289375	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-0.444000	0.06854	0.142000	0.18901	-0.305000	0.09177	TTC		0.557	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			A	85488371	C	A	85488371	3	1	274	1	0	0	0	0	1	0	0	0	14537	825	29	4	2027	4	SLC28A1	15	85488371	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	11636116	85488371	17043021	69	16474											
TMEM8A	58986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	425200	425200	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:425200T>A	ENST00000431232.2	-	8	1532	c.1372A>T	c.(1372-1374)Atc>Ttc	p.I458F	TMEM8A_ENST00000476735.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.I265F	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	458					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)		p.I458F(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TAGGGGATGATGAGGTTGGCC	0.627																																																1	Substitution - Missense(1)	kidney(1)											92	82	86					16																	425200		2201	4300	6501	SO:0001583	missense	58986			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1372A>T	16.37:g.425200T>A	ENSP00000401338:p.Ile458Phe		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222898	0.58668	.	.	ENSG00000129925	ENST00000431232;ENST00000250930;ENST00000448854	T;T;T	0.44881	1.92;1.51;0.91	4.31	-2.57	0.06248	.	0.721517	0.12403	N	0.471942	T	0.34279	0.0892	M	0.67953	2.075	0.09310	N	1	D	0.59357	0.985	P	0.44647	0.456	T	0.41556	-0.9502	10	0.10377	T	0.69	-5.845	6.7322	0.23388	0.1216:0.3864:0.0:0.492	.	458	Q9HCN3	TMM8A_HUMAN	F	458;265;6	ENSP00000401338:I458F;ENSP00000250930:I265F;ENSP00000401931:I6F	ENSP00000250930:I265F	I	-	1	0	TMEM8A	365201	0.000000	0.05858	0.890000	0.34922	0.990000	0.78478	0.190000	0.17057	-0.297000	0.08934	0.459000	0.35465	ATC		0.627	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		A	425200	T	A	425200	3	1	274	1	0	0	0	0	1	0	0	0	16219	1464	51	5	967	5	TMEM8A	16	425200	Missense_Mutation	SNP	T	TCGA-B8-4621-01A-01D-1501-10		425200	89929553	70	16475											
CRAMP1L	57585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1682305	1682305	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:1682305G>C	ENST00000397412.3	+	4	732	c.633G>C	c.(631-633)caG>caC	p.Q211H	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.Q208H|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.Q211H|LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.G16R			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	211	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q211H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ACAAGGAGCAGGTCCGCCACT	0.527																																																1	Substitution - Missense(1)	kidney(1)											40	48	45					16																	1682305		2119	4238	6357	SO:0001583	missense	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.633G>C	16.37:g.1682305G>C	ENSP00000380559:p.Gln211His		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900357	0.72754	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	T;T;T	0.80393	-1.37;-1.37;-1.37	5.39	1.26	0.21427	SANT domain, DNA binding (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.85818	0.5785	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.83954	0.0318	10	0.66056	D	0.02	-25.4718	10.2828	0.43550	0.2625:0.0:0.7375:0.0	.	211	Q96RY5	CRML_HUMAN	H	211;211;208	ENSP00000380559:Q211H;ENSP00000293925:Q211H;ENSP00000413634:Q208H	ENSP00000293925:Q211H	Q	+	3	2	CRAMP1L	1622306	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.433000	0.52834	0.081000	0.16988	0.563000	0.77884	CAG		0.527	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			C	1682305	G	C	1682305	3	2	274	1	0	0	0	0	1	0	0	0	3848	991	35	4	643	4	CRAMP1L	16	1682305	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	1257105	1682305	88672448	71	16476											
TRAF7	84231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2220688	2220688	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:2220688C>G	ENST00000326181.6	+	5	437	c.305C>G	c.(304-306)tCt>tGt	p.S102C		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	102					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S102C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TCCAGCATGTCTCTGCGCTCC	0.687																																																1	Substitution - Missense(1)	kidney(1)											51	43	46					16																	2220688		2186	4294	6480	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.305C>G	16.37:g.2220688C>G	ENSP00000318944:p.Ser102Cys		Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876590	0.72180	.	.	ENSG00000131653	ENST00000326181	T	0.53857	0.6	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.56865	0.808	T	0.61637	-0.7022	10	0.87932	D	0	-31.9817	16.9802	0.86325	0.0:1.0:0.0:0.0	.	102	Q6Q0C0	TRAF7_HUMAN	C	102	ENSP00000318944:S102C	ENSP00000318944:S102C	S	+	2	0	TRAF7	2160689	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.575000	0.82447	2.505000	0.84491	0.561000	0.74099	TCT		0.687	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		G	2220688	C	G	2220688	3	3	274	1	0	0	0	0	1	0	0	0	16451	913	32	4	319	4	TRAF7	16	2220688	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	538383	2220688	88134065	72	16477											
BTBD12	84464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3639200	3639200	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:3639200C>T	ENST00000294008.3	-	12	5079	c.4439G>A	c.(4438-4440)gGa>gAa	p.G1480E		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1480	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.G1480E(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGTGCAGCTTCCTCGGATGGG	0.652								Direct reversal of damage																																								1	Substitution - Missense(1)	kidney(1)											98	115	109					16																	3639200		2197	4300	6497	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4439G>A	16.37:g.3639200C>T	ENSP00000294008:p.Gly1480Glu		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184063	0.78677	.	.	ENSG00000188827	ENST00000294008	T	0.02890	4.12	5.77	4.8	0.61643	.	0.000000	0.64402	D	0.000003	T	0.07728	0.0194	M	0.70275	2.135	0.23082	N	0.998325	D	0.57257	0.979	P	0.48063	0.565	T	0.09707	-1.0662	10	0.52906	T	0.07	.	14.4194	0.67173	0.0:0.8528:0.1472:0.0	.	1480	Q8IY92	SLX4_HUMAN	E	1480	ENSP00000294008:G1480E	ENSP00000294008:G1480E	G	-	2	0	SLX4	3579201	0.914000	0.31030	0.027000	0.17364	0.431000	0.31685	2.849000	0.48286	1.538000	0.49270	0.655000	0.94253	GGA		0.652	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		T	3639200	C	T	3639200	3	4	274	1	0	0	0	0	1	0	0	0	1542	855	30	2	1081	2	BTBD12	16	3639200	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	1418512	3639200	86715553	73	16478											
CREBBP	1387	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3843626	3843626	+	Splice_Site	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:3843626G>A	ENST00000262367.5	-	4	1786	c.977C>T	c.(976-978)tCt>tTt	p.S326F	CREBBP_ENST00000382070.3_Splice_Site_p.S326F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	326	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S326F(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGCATCTGAGACTAAAATAA	0.368			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	kidney(1)											105	89	95					16																	3843626		2197	4300	6497	SO:0001630	splice_region_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.976-1C>T	16.37:g.3843626G>A			D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200501	0.58126	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83673	-1.75;-1.67	5.91	5.91	0.95273	.	0.370724	0.25704	N	0.028850	D	0.86698	0.5995	L	0.29908	0.895	0.40715	D	0.982605	D;D	0.69078	0.989;0.997	D;P	0.67231	0.95;0.706	D	0.87463	0.2409	10	0.59425	D	0.04	-19.894	19.2867	0.94077	0.0:0.0:1.0:0.0	.	394;326	Q4LE28;Q92793	.;CBP_HUMAN	F	326;394;326	ENSP00000262367:S326F;ENSP00000371502:S326F	ENSP00000262367:S326F	S	-	2	0	CREBBP	3783627	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.292000	0.65673	2.793000	0.96121	0.655000	0.94253	TCT		0.368	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	Missense_Mutation	A	3843626	G	A	3843626	5	1	274	1	0	0	0	0	0	0	1	0	3863	956	33	2	6463	2	CREBBP	16	3843626	Splice_Site	SNP	G	TCGA-B8-4621-01A-01D-1501-10	204426	3843626	86511127	74	16479											
ARHGAP17	55114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24942355	24942355	+	Silent	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:24942355G>C	ENST00000289968.6	-	19	2334	c.2265C>G	c.(2263-2265)ccC>ccG	p.P755P	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.P677P	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	755	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.P677P(1)|p.P755P(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTGGAGTCTGGGGAGGGGTGT	0.617																																																2	Substitution - coding silent(2)	kidney(2)											90	107	101					16																	24942355		2197	4300	6497	SO:0001819	synonymous_variant	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2265C>G	16.37:g.24942355G>C			A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	CCDS32409.1																																																																																				0.617	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		C	24942355	G	C	24942355	2	2	274	1	0	0	0	0	0	0	0	1	867	1219	43	4		4	ARHGAP17	16	24942355	Silent	SNP	G	TCGA-B8-4621-01A-01D-1501-10	21098729	24942355	65412398	75	16480											
ZDHHC1	29800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67440199	67440199	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:67440199C>A	ENST00000348579.2	-	3	497	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	52					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Q52H(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		AGGCCACAATCTGGAGCGGGT	0.657																																																1	Substitution - Missense(1)	kidney(1)											46	34	38					16																	67440199		2196	4297	6493	SO:0001583	missense	29800			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.156G>T	16.37:g.67440199C>A	ENSP00000340299:p.Gln52His		O15461	Missense_Mutation	SNP	ENST00000348579.2	37	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857277	0.91433	.	.	ENSG00000159714	ENST00000348579	T	0.37411	1.2	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000007	T	0.65048	0.2654	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70695	-0.4801	10	0.87932	D	0	.	17.8255	0.88664	0.0:1.0:0.0:0.0	.	52	Q8WTX9	ZDHC1_HUMAN	H	52	ENSP00000340299:Q52H	ENSP00000340299:Q52H	Q	-	3	2	ZDHHC1	65997700	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.463000	0.83235	0.561000	0.74099	CAG		0.657	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		A	67440199	C	A	67440199	3	1	274	1	0	0	0	0	1	0	0	0	17605	912	32	4	1337	4	ZDHHC1	16	67440199	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	42497844	67440199	22914554	76	16481											
CLEC18B	497190	broad.mit.edu	37	16	74444509	74444509	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr16:74444509T>A	ENST00000339953.5	-	10	1257	c.1136A>T	c.(1135-1137)aAg>aTg	p.K379M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	379	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.K379M(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAAGGAGTCCTTGGCGGTCTT	0.647																																																1	Substitution - Missense(1)	kidney(1)											34	38	37					16																	74444509		2194	4273	6467	SO:0001583	missense	497190			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1136A>T	16.37:g.74444509T>A	ENSP00000341051:p.Lys379Met		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	t	15.47	2.844352	0.51164	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.55760	0.5	3.14	3.14	0.36123	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	L	0.58810	1.83	0.36582	D	0.87359	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70128	-0.4957	10	0.72032	D	0.01	.	7.7135	0.28692	0.0:0.0:0.0:1.0	.	379;379	C9JSV1;Q6UXF7	.;CL18B_HUMAN	M	379	ENSP00000341051:K379M	ENSP00000341051:K379M	K	-	2	0	CLEC18B	73002010	1.000000	0.71417	0.828000	0.32881	0.781000	0.44180	3.811000	0.55620	1.297000	0.44761	0.352000	0.21897	AAG		0.647	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		A	74444509	T	A	74444509	3	1	274	1	0	0	0	0	1	0	0	0	3505	1609	56	5	247	5	CLEC18B	16	74444509	Missense_Mutation	SNP	T	TCGA-B8-4621-01A-01D-1501-10	7004310	74444509	15910244	77	16482											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11786998	11786998	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:11786998C>A	ENST00000262442.4	+	56	10970	c.10902C>A	c.(10900-10902)ttC>ttA	p.F3634L	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_De_novo_Start_InFrame|DNAH9_ENST00000454412.2_Missense_Mutation_p.F3634L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3634	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.F3634F(1)|p.F3634L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGGAACTTCCTGGGAGAAA	0.498																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)											95	89	91					17																	11786998		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10902C>A	17.37:g.11786998C>A	ENSP00000262442:p.Phe3634Leu		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041724	0.75732	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.50813	0.73;0.73	4.91	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	N	0.16166	0.38	0.80722	D	1	B	0.27951	0.195	B	0.41036	0.346	T	0.04565	-1.0942	10	0.08837	T	0.75	.	11.1031	0.48186	0.0:0.8505:0.0:0.1495	.	3634	Q9NYC9	DYH9_HUMAN	L	3634;3634;2216	ENSP00000262442:F3634L;ENSP00000414874:F3634L	ENSP00000262442:F3634L	F	+	3	2	DNAH9	11727723	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.876000	0.56115	0.777000	0.33496	0.655000	0.94253	TTC		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11786998	C	A	11786998	3	1	274	1	0	0	0	0	1	0	0	0	4610	854	30	4	11124	4	DNAH9	17	11786998	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10		11786998	69408212	78	16483											
C17orf75	64149	broad.mit.edu;ucsc.edu	37	17	30669149	30669149	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:30669149A>G	ENST00000577809.1	-	1	59	c.10T>C	c.(10-12)Tct>Cct	p.S4P	C17orf75_ENST00000225805.4_Missense_Mutation_p.S4P|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	4								p.S4P(1)		ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCCTGCAAAGAGGGGAGCATT	0.662																																																1	Substitution - Missense(1)	kidney(1)											24	28	27					17																	30669149		1975	4145	6120	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.10T>C	17.37:g.30669149A>G	ENSP00000464275:p.Ser4Pro		Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.558510	0.27827	.	.	ENSG00000108666	ENST00000225805	.	.	.	4.99	4.99	0.66335	.	0.057123	0.64402	D	0.000001	T	0.63570	0.2522	L	0.43152	1.355	0.38276	D	0.942296	D	0.71674	0.998	P	0.60541	0.876	T	0.69621	-0.5096	9	0.87932	D	0	-12.34	10.1357	0.42706	0.8327:0.1673:0.0:0.0	.	4	Q9HAS0	NJMU_HUMAN	P	4	.	ENSP00000225805:S4P	S	-	1	0	C17orf75	27693262	1.000000	0.71417	0.825000	0.32803	0.432000	0.31715	2.837000	0.48191	2.089000	0.63090	0.374000	0.22700	TCT		0.662	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		G	30669149	A	G	30669149	3	3	274	1	0	0	0	0	1	0	0	0	1882	304	11	3	1220	3	C17orf75	17	30669149	Missense_Mutation	SNP	A	TCGA-B8-4621-01A-01D-1501-10	18882151	30669149	50526061	79	16484											
BRIP1	83990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	59886033	59886033	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:59886033G>A	ENST00000259008.2	-	7	980	c.713C>T	c.(712-714)aCa>aTa	p.T238I	BRIP1_ENST00000577598.1_Missense_Mutation_p.T238I	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	238	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T238I(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GGATTTCCCTGTATGATCCTT	0.443			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	2	Substitution - Missense(2)	kidney(2)											103	93	97					17																	59886033		2203	4300	6503	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.713C>T	17.37:g.59886033G>A	ENSP00000259008:p.Thr238Ile		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	8.281	0.815534	0.16607	.	.	ENSG00000136492	ENST00000259008	T	0.74209	-0.82	5.29	4.31	0.51392	DEAD-like helicase (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.184593	0.47455	D	0.000227	T	0.51601	0.1684	N	0.11560	0.145	0.22066	N	0.999386	P	0.38110	0.618	B	0.28553	0.091	T	0.40098	-0.9581	9	.	.	.	-3.5003	15.2369	0.73438	0.0:0.853:0.147:0.0	.	238	Q9BX63	FANCJ_HUMAN	I	238	ENSP00000259008:T238I	.	T	-	2	0	BRIP1	57240815	0.578000	0.26717	0.554000	0.28268	0.376000	0.30014	1.553000	0.36255	1.359000	0.45940	-0.367000	0.07326	ACA		0.443	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		A	59886033	G	A	59886033	3	1	274	1	0	0	0	0	1	0	0	0	1516	1377	48	2	3092	2	BRIP1	17	59886033	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	29216884	59886033	21309177	80	16485											
BPTF	2186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65960482	65960482	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:65960482G>C	ENST00000321892.4	+	27	8855	c.8794G>C	c.(8794-8796)Gat>Cat	p.D2932H	BPTF_ENST00000424123.3_Missense_Mutation_p.D2650H|BPTF_ENST00000335221.5_Missense_Mutation_p.D2789H|BPTF_ENST00000306378.6_Missense_Mutation_p.D2806H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2932					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D2806H(1)|p.D2789H(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACAGAGAAGGATTATGAGGG	0.478																																																2	Substitution - Missense(2)	kidney(2)											101	91	94					17																	65960482		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8794G>C	17.37:g.65960482G>C	ENSP00000315454:p.Asp2932His		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	15.43	2.832111	0.50845	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	T;T;T	0.18657	2.2;2.2;2.2	5.91	5.91	0.95273	.	.	.	.	.	T	0.39911	0.1096	L	0.33093	0.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.999;1.0;1.0	T	0.10019	-1.0648	9	0.72032	D	0.01	-14.0768	20.3011	0.98612	0.0:0.0:1.0:0.0	.	137;610;2806;2789	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	H	2806;2789;2932;137	ENSP00000307208:D2806H;ENSP00000334351:D2789H;ENSP00000315454:D2932H	ENSP00000307208:D2806H	D	+	1	0	BPTF	63390944	1.000000	0.71417	0.890000	0.34922	0.998000	0.95712	9.807000	0.99171	2.809000	0.96659	0.555000	0.69702	GAT		0.478	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		C	65960482	G	C	65960482	3	2	274	1	0	0	0	0	1	0	0	0	1497	1174	41	4	8900	4	BPTF	17	65960482	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	6074449	65960482	15234728	81	16486											
ABCA5	23461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	67298930	67298930	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:67298930T>G	ENST00000392676.3	-	8	1112	c.1048A>C	c.(1048-1050)Agt>Cgt	p.S350R	ABCA5_ENST00000588877.1_Missense_Mutation_p.S350R|ABCA5_ENST00000392677.2_Missense_Mutation_p.S350R			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	350					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S350R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTGGGAAAACTTTCTATGAGG	0.343																																																1	Substitution - Missense(1)	kidney(1)											80	74	76					17																	67298930		2203	4299	6502	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1048A>C	17.37:g.67298930T>G	ENSP00000376443:p.Ser350Arg		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522125	0.44866	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88431	-2.38;-2.38	5.08	3.8	0.43715	.	0.279906	0.29940	N	0.010809	T	0.78685	0.4322	L	0.29908	0.895	0.30556	N	0.764966	B;B	0.28470	0.056;0.213	B;B	0.30105	0.099;0.111	T	0.69705	-0.5073	9	.	.	.	.	3.3532	0.07160	0.0:0.3572:0.0:0.6428	.	350;350	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	R	350	ENSP00000376444:S350R;ENSP00000376443:S350R	.	S	-	1	0	ABCA5	64810525	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.241000	0.51376	2.021000	0.59480	0.533000	0.62120	AGT		0.343	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		G	67298930	T	G	67298930	3	3	274	1	0	0	0	0	1	0	0	0	35	1609	56	5	4008	5	ABCA5	17	67298930	Missense_Mutation	SNP	T	TCGA-B8-4621-01A-01D-1501-10	1338448	67298930	13896280	82	16487											
GALK1	2584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73758818	73758818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr17:73758818delT	ENST00000588479.1	-	5	1334	c.760delA	c.(760-762)agcfs	p.S254fs	GALK1_ENST00000437911.1_Frame_Shift_Del_p.S284fs|GALK1_ENST00000225614.2_Frame_Shift_Del_p.S254fs			P51570	GALK1_HUMAN	galactokinase 1	254					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCGGAGGCTTTCCTTGCCC	0.637																																																0													60	60	60					17																	73758818		2203	4300	6503	SO:0001589	frameshift_variant	2584				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.760delA	17.37:g.73758818delT	ENSP00000465930:p.Ser254fs		B2RC07|B4E1G6	Frame_Shift_Del	DEL	ENST00000588479.1	37	CCDS11728.1																																																																																				0.637	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448430.1			-	73758818	T	-	73758818	7	5	274	1	0	1	0	1	0	0	0	0	6205	1609	56	0	434	0	GALK1	17	73758818	Frame_Shift_Del	DEL	T	TCGA-B8-4621-01A-01D-1501-10	6459888	73758818	7436392	83	16488											
C19orf21	126353	broad.mit.edu	37	19	757468	757468	+	Silent	SNP	C	C	A	rs375452577		TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr19:757468C>A	ENST00000215582.6	+	2	625	c.522C>A	c.(520-522)ggC>ggA	p.G174G		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	174					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G174G(1)									GGACCCCCGGCCCACCTCGGT	0.667																																																1	Substitution - coding silent(1)	kidney(1)											17	21	20					19																	757468		2188	4289	6477	SO:0001819	synonymous_variant	126353			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.522C>A	19.37:g.757468C>A				Silent	SNP	ENST00000215582.6	37	CCDS12042.1																																																																																				0.667	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		A	757468	C	A	757468	2	1	274	1	0	0	0	0	0	0	0	1	1915	726	26	4		4	C19orf21	19	757468	Silent	SNP	C	TCGA-B8-4621-01A-01D-1501-10		757468	58371515	84	16489											
ZNF816A	125893	hgsc.bcm.edu	37	19	53454729	53454729	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr19:53454729delT	ENST00000357666.4	-	5	599	c.299delA	c.(298-300)gatfs	p.D100fs	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Frame_Shift_Del_p.D100fs|ZNF816_ENST00000391786.2_3'UTR|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAGCAAAAATCTCCAATGTG	0.388																																																0													110	113	112					19																	53454729		2203	4300	6503	SO:0001589	frameshift_variant	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.299delA	19.37:g.53454729delT	ENSP00000350295:p.Asp100fs		A8K7H5|Q3KR39|Q659B3	Frame_Shift_Del	DEL	ENST00000357666.4	37	CCDS33096.1																																																																																				0.388	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		-	53454729	T	-	53454729	7	5	274	1	0	1	0	1	0	0	0	0	18182	1435	50	0	1660	0	ZNF816A	19	53454729	Frame_Shift_Del	DEL	T	TCGA-B8-4621-01A-01D-1501-10	52697261	53454729	5674254	85	16490											
LILRA6	79168	broad.mit.edu;hgsc.bcm.edu	37	19	54744308	54744308	+	Missense_Mutation	SNP	C	C	T	rs201828111		TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr19:54744308C>T	ENST00000396365.2	-	6	1139	c.1100G>A	c.(1099-1101)cGt>cAt	p.R367H	LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.R367H|LILRA6_ENST00000245621.5_Missense_Mutation_p.R367H	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	367	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R367H(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGATCTCAGACGCAGTGGGGG	0.557																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)						C	HIS/ARG	0,4406		0,0,2203	61	91	81		1100	-3.7	0	19		81	1,8591	1.2+/-3.3	0,1,4295	no	missense	LILRA6	NM_024318.2	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		367/482	54744308	1,12997	2203	4296	6499	SO:0001583	missense	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1100G>A	19.37:g.54744308C>T	ENSP00000379651:p.Arg367His			Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	1.340	-0.594330	0.03771	0.0	1.16E-4	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.03035	4.07;4.07;4.07	1.86	-3.72	0.04411	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.700449	0.12216	N	0.488788	T	0.02688	0.0081	L	0.41710	1.295	0.09310	N	0.999999	B;D;B	0.63046	0.121;0.992;0.178	B;B;B	0.40565	0.021;0.333;0.106	T	0.21724	-1.0237	10	0.27785	T	0.31	.	5.6296	0.17504	0.177:0.5877:0.0:0.2353	.	367;367;367	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	H	367	ENSP00000411227:R367H;ENSP00000379651:R367H;ENSP00000245621:R367H	ENSP00000245621:R367H	R	-	2	0	LILRA6	59436120	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.497000	0.00118	-1.995000	0.00971	-1.373000	0.01185	CGT		0.557	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		T	54744308	C	T	54744308	3	4	274	1	0	0	0	0	1	0	0	0	8791	536	19	1	357	1	LILRA6	19	54744308	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	1289579	54744308	4384675	86	16491											
ACSS2	55902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33501198	33501198	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr20:33501198A>G	ENST00000360596.2	+	4	680	c.469A>G	c.(469-471)Att>Gtt	p.I157V	ACSS2_ENST00000253382.5_Missense_Mutation_p.I157V|ACSS2_ENST00000336325.4_Missense_Mutation_p.I107V|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	157					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.I157V(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACCTGCAGGCATTCAGAAGGG	0.552																																																2	Substitution - Missense(2)	kidney(2)											121	120	120					20																	33501198		2203	4300	6503	SO:0001583	missense	55902			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.469A>G	20.37:g.33501198A>G	ENSP00000353804:p.Ile157Val		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	A	1.268	-0.613947	0.03690	.	.	ENSG00000131069	ENST00000488172;ENST00000336325;ENST00000360596;ENST00000374693;ENST00000493805;ENST00000473172;ENST00000253382	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.09	1.5	0.22942	AMP-dependent synthetase/ligase (1);	0.435249	0.27349	N	0.019774	T	0.10252	0.0251	N	0.01197	-0.965	0.42041	D	0.991078	B;B	0.12630	0.001;0.006	B;B	0.20184	0.009;0.028	T	0.35025	-0.9805	10	0.02654	T	1	-6.5173	8.5752	0.33595	0.6155:0.0:0.3845:0.0	.	157;157	Q5QPH3;Q9NR19	.;ACSA_HUMAN	V	107;107;157;157;175;170;157	ENSP00000417783:I107V;ENSP00000337190:I107V;ENSP00000353804:I157V;ENSP00000418812:I175V;ENSP00000419925:I170V;ENSP00000253382:I157V	ENSP00000253382:I157V	I	+	1	0	ACSS2	32964859	0.719000	0.27986	0.987000	0.45799	0.999000	0.98932	1.301000	0.33447	0.062000	0.16340	0.533000	0.62120	ATT		0.552	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		G	33501198	A	G	33501198	3	3	274	1	0	0	0	0	1	0	0	0	189	217	8	3	483	3	ACSS2	20	33501198	Missense_Mutation	SNP	A	TCGA-B8-4621-01A-01D-1501-10		33501198	29524322	87	16492											
ACTR5	79913	broad.mit.edu;ucsc.edu	37	20	37396132	37396132	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr20:37396132C>A	ENST00000243903.4	+	8	1496	c.1459C>A	c.(1459-1461)Ctg>Atg	p.L487M		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	487					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)		p.L487M(1)		kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TCAGGAAATGCTGGTTCAGAA	0.448																																																1	Substitution - Missense(1)	kidney(1)											147	126	133					20																	37396132		2203	4300	6503	SO:0001583	missense	79913			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1459C>A	20.37:g.37396132C>A	ENSP00000243903:p.Leu487Met		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990780	0.54041	.	.	ENSG00000101442	ENST00000243903	D	0.97976	-4.64	5.81	2.71	0.32032	.	0.068572	0.64402	N	0.000011	D	0.97911	0.9313	M	0.67397	2.05	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96961	0.9701	10	0.87932	D	0	-16.0009	8.034	0.30482	0.1277:0.7298:0.0:0.1425	.	487	Q9H9F9	ARP5_HUMAN	M	487	ENSP00000243903:L487M	ENSP00000243903:L487M	L	+	1	2	ACTR5	36829546	0.988000	0.35896	0.402000	0.26371	0.573000	0.36030	2.771000	0.47670	0.324000	0.23333	-0.345000	0.07892	CTG		0.448	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		A	37396132	C	A	37396132	3	1	274	1	0	0	0	0	1	0	0	0	215	796	28	4	1489	4	ACTR5	20	37396132	Missense_Mutation	SNP	C	TCGA-B8-4621-01A-01D-1501-10	3894934	37396132	25629388	88	16493											
DHX35	60625	hgsc.bcm.edu;ucsc.edu	37	20	37623522	37623523	+	Splice_Site	INS	-	-	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr20:37623522_37623523insC	ENST00000252011.3	+	8	674_675	c.641_642insC	c.(640-645)gacaaa>gaCcaaa	p.K215fs	DHX35_ENST00000373325.2_Splice_Site_p.K215fs|DHX35_ENST00000373323.4_Splice_Site_p.K184fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	215	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.D214G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGGATGCAGACGTAAGAGCCT	0.416																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001630	splice_region_variant	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.642+1->C	20.37:g.37623523_37623523dupC			A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Frame_Shift_Ins	INS	ENST00000252011.3	37	CCDS13310.1																																																																																				0.416	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	Frame_Shift_Ins	C	37623523	-	C	37623522	8	5	274	1	0	1	1	0	0	0	1	0	4510	289	10	0	671	0	DHX35	20	37623522	Splice_Site	INS	-	TCGA-B8-4621-01A-01D-1501-10	227390	37623522	25401998	89	16494											
TCEA2	6919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62698282	62698282	+	Silent	SNP	G	G	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr20:62698282G>C	ENST00000343484.5	+	3	319	c.150G>C	c.(148-150)ggG>ggC	p.G50G	TCEA2_ENST00000361317.2_Silent_p.G23G|TCEA2_ENST00000395053.3_Silent_p.G50G|TCEA2_ENST00000465111.1_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	50	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G50G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCCGAGTCGGGATGTCTGTCA	0.622																																																1	Substitution - coding silent(1)	kidney(1)											76	60	65					20																	62698282		2203	4300	6503	SO:0001819	synonymous_variant	6919			U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.150G>C	20.37:g.62698282G>C			B3KNM1|Q8TD37|Q8TD38	Silent	SNP	ENST00000343484.5	37	CCDS13553.1																																																																																				0.622	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723		C	62698282	G	C	62698282	2	2	274	1	0	0	0	0	0	0	0	1	15673	1161	41	4		4	TCEA2	20	62698282	Silent	SNP	G	TCGA-B8-4621-01A-01D-1501-10	25074760	62698282	327238	90	16495											
SYNJ1	8867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34042650	34042650	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr21:34042650T>C	ENST00000322229.7	-	14	1758	c.1759A>G	c.(1759-1761)Att>Gtt	p.I587V	SYNJ1_ENST00000382491.3_Missense_Mutation_p.I582V|SYNJ1_ENST00000382499.2_Missense_Mutation_p.I626V|SYNJ1_ENST00000433931.2_Missense_Mutation_p.I626V|SYNJ1_ENST00000357345.3_Missense_Mutation_p.I587V			O43426	SYNJ1_HUMAN	synaptojanin 1	587	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.I587V(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCAAAACCAATTGCAAATATA	0.353																																																1	Substitution - Missense(1)	kidney(1)											92	86	88					21																	34042650		2201	4298	6499	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1759A>G	21.37:g.34042650T>C	ENSP00000322234:p.Ile587Val		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132726	0.56828	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	D;D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6;-3.6	5.5	5.5	0.81552	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92100	0.7496	N	0.12746	0.255	0.80722	D	1	P;P;P;P;P	0.49358	0.891;0.865;0.923;0.754;0.857	P;P;P;P;P	0.55713	0.782;0.669;0.47;0.669;0.775	D	0.91028	0.4862	10	0.22109	T	0.4	.	15.6063	0.76676	0.0:0.0:0.0:1.0	.	582;626;587;587;587	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	V	582;587;626;626;587;582	ENSP00000371931:I582V;ENSP00000349903:I587V;ENSP00000371939:I626V;ENSP00000409667:I626V;ENSP00000322234:I587V;ENSP00000413649:I582V	ENSP00000322234:I587V	I	-	1	0	SYNJ1	32964521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.613000	0.82986	2.098000	0.63641	0.533000	0.62120	ATT		0.353	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				C	34042650	T	C	34042650	3	2	274	1	0	0	0	0	1	0	0	0	15457	1493	52	3	3059	3	SYNJ1	21	34042650	Missense_Mutation	SNP	T	TCGA-B8-4621-01A-01D-1501-10		34042650	14087245	91	16496											
PCNT	5116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47783470	47783470	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chr21:47783470G>A	ENST00000359568.5	+	14	2337	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	744	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.E744K(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GATGAAACAGGAATTCCAAAG	0.378																																																1	Substitution - Missense(1)	kidney(1)											135	137	136					21																	47783470		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2230G>A	21.37:g.47783470G>A	ENSP00000352572:p.Glu744Lys		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292256	0.59976	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.24350	1.86	5.11	4.02	0.46733	.	0.233454	0.22139	N	0.064062	T	0.27313	0.0670	L	0.34521	1.04	0.09310	N	1	B;D	0.67145	0.194;0.996	B;P	0.55923	0.045;0.787	T	0.06162	-1.0842	10	0.27082	T	0.32	.	7.6536	0.28363	0.1679:0.0:0.8321:0.0	.	626;744	O95613-2;O95613	.;PCNT_HUMAN	K	744;731	ENSP00000352572:E744K	ENSP00000338675:E731K	E	+	1	0	PCNT	46607898	0.014000	0.17966	0.014000	0.15608	0.022000	0.10575	0.564000	0.23563	2.392000	0.81423	0.650000	0.86243	GAA		0.378	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		A	47783470	G	A	47783470	3	1	274	1	0	0	0	0	1	0	0	0	11592	1175	41	2	2284	2	PCNT	21	47783470	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	13740820	47783470	346425	92	16497											
HUWE1	10075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53579648	53579648	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chrX:53579648G>T	ENST00000342160.3	-	61	9158	c.8701C>A	c.(8701-8703)Caa>Aaa	p.Q2901K	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q2901K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2901					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.Q2901K(1)|p.Q2791K(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCCTGCCTTGCACTTCCGCC	0.582																																																2	Substitution - Missense(2)	kidney(2)											57	56	56					X																	53579648		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8701C>A	X.37:g.53579648G>T	ENSP00000340648:p.Gln2901Lys		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.352|9.352	1.065879|1.065879	0.20067|0.20067	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.36878	.|1.23;1.23	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.674051	.|0.14906	.|N	.|0.291532	T|T	0.29126|0.29126	0.0724|0.0724	N|N	0.24115|0.24115	0.695|0.695	0.50171|0.50171	D|D	0.999858|0.999858	.|B;B	.|0.22146	.|0.016;0.065	.|B;B	.|0.21546	.|0.015;0.035	T|T	0.07673|0.07673	-1.0760|-1.0760	5|10	.|0.21014	.|T	.|0.42	.|.	17.7556|17.7556	0.88447|0.88447	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2901;2901	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	E|K	1934|2901	.|ENSP00000340648:Q2901K;ENSP00000262854:Q2901K	.|ENSP00000262854:Q2901K	A|Q	-|-	2|1	0|0	HUWE1|HUWE1	53596373|53596373	0.999000|0.999000	0.42202|0.42202	0.239000|0.239000	0.24122|0.24122	0.191000|0.191000	0.23601|0.23601	5.938000|5.938000	0.70170|0.70170	2.465000|2.465000	0.83290|0.83290	0.600000|0.600000	0.82982|0.82982	GCA|CAA		0.582	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53579648	G	T	53579648	3	4	274	1	0	0	0	0	1	0	0	0	7463	1328	46	4	4515	4	HUWE1	23	53579648	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10		53579648	101690912	93	16498											
MAGEA10	4109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151303310	151303310	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4621-01A-01D-1501-10	TCGA-B8-4621-10A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a9d9213-c3e8-4603-8a56-45319446f269	238fdc67-ba8b-4f35-a1bd-a91c03192dd5	g.chrX:151303310G>T	ENST00000370323.4	-	4	1099	c.783C>A	c.(781-783)caC>caA	p.H261Q	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.H261Q	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	261	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)		p.H261Q(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CATAAATGAGGTGCTCCATCC	0.532																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											85	80	82					X																	151303310		2203	4300	6503	SO:0001583	missense	4109				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.783C>A	X.37:g.151303310G>T	ENSP00000359347:p.His261Gln			Missense_Mutation	SNP	ENST00000370323.4	37	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898015	0.52227	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.05513	3.43;3.43	2.6	-0.415	0.12355	.	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	H	0.95328	3.655	0.09310	N	1	D	0.64830	0.994	P	0.58520	0.84	T	0.07770	-1.0755	10	0.87932	D	0	.	5.3759	0.16164	0.4739:0.0:0.5261:0.0	.	261	P43363	MAGAA_HUMAN	Q	261	ENSP00000359347:H261Q;ENSP00000244096:H261Q	ENSP00000244096:H261Q	H	-	3	2	MAGEA10	151053966	0.005000	0.15991	0.000000	0.03702	0.547000	0.35210	-0.324000	0.07986	-0.235000	0.09767	0.292000	0.19580	CAC		0.532	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		T	151303310	G	T	151303310	3	4	274	1	0	0	0	0	1	0	0	0	9166	1252	44	4	330	4	MAGEA10	23	151303310	Missense_Mutation	SNP	G	TCGA-B8-4621-01A-01D-1501-10	97723662	151303310	3967250	94	16499											
VHL	7428	hgsc.bcm.edu	37	3	10183752	10183752	+	Missense_Mutation	SNP	T	T	G	rs5030803		TCGA-B8-4621-01A-01D-2102-10	TCGA-B8-4621-10A-01W-1528-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	7b65cc53-f34c-4b46-afd9-55f08baac99f	fb9db263-63a1-45e6-94af-843d0e8225b0	g.chr3:10183752T>G	ENST00000256474.2	+	1	1061	c.221T>G	c.(220-222)gTc>gGc	p.V74G	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.V74G	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	74			V -> G (in VHLD; type I-II; dbSNP:rs5030803). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V74D(8)|p.V74A(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.P71fs*56(1)|p.V74>?(1)|p.V74fs*77(1)|p.V74fs*82(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCTCCCAGGTCATCTTCTGC	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	18	Substitution - Missense(9)|Deletion - Frameshift(6)|Complex - deletion inframe(1)|Deletion - In frame(1)|Complex(1)	kidney(17)|soft_tissue(1)	GRCh37	CM961417	VHL	M	rs5030803						10	14	12					3																	10183752		2163	4233	6396	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.221T>G	3.37:g.10183752T>G	ENSP00000256474:p.Val74Gly		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806068	0.90623	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99842	-7.1;-7.1	5.34	4.16	0.48862	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.120953	0.56097	N	0.000027	D	0.99315	0.9760	M	0.73962	2.25	0.54753	D	0.999986	B;P	0.34629	0.079;0.46	B;B	0.34385	0.051;0.181	D	0.98470	1.0600	10	0.87932	D	0	-6.556	10.613	0.45434	0.0:0.0:0.1618:0.8382	rs5030803	74;74	P40337-2;P40337	.;VHL_HUMAN	G	74	ENSP00000256474:V74G;ENSP00000344757:V74G	ENSP00000256474:V74G	V	+	2	0	VHL	10158752	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.431000	0.52814	0.851000	0.35264	0.450000	0.29827	GTC		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183752	T	G	10183752	3	3	275	1	0	0	0	0	1	0	0	0	17167	1667	58	5	223	5	VHL	3	10183752	Missense_Mutation	SNP	T	TCGA-B8-4621-01A-01D-2102-10		10183752	187838678	1	16500											
PTPRF	5792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44070946	44070946	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr1:44070946C>G	ENST00000359947.4	+	18	3561	c.3221C>G	c.(3220-3222)tCg>tGg	p.S1074W	PTPRF_ENST00000372414.3_Missense_Mutation_p.S1074W|PTPRF_ENST00000438120.1_Missense_Mutation_p.S1065W|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1065W|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.S422W	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1074	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1064W(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACAGAGTACTCGTTTGTGCTG	0.637																																																1	Substitution - Missense(1)	kidney(1)											58	62	60					1																	44070946		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3221C>G	1.37:g.44070946C>G	ENSP00000353030:p.Ser1074Trp		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.756170|4.756170	0.89843|0.89843	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.55930	.|0.51;0.51;0.51;0.51;0.51;0.49	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.000000	.|0.29646	.|N	.|0.011579	T|T	0.70037|0.70037	0.3178|0.3178	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.997;0.999;0.999;1.0;1.0	.|D;D;D;D;D	.|0.79784	.|0.931;0.934;0.985;0.989;0.993	T|T	0.71553|0.71553	-0.4558|-0.4558	5|10	.|0.72032	.|D	.|0.01	.|.	19.3629|19.3629	0.94448|0.94448	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|719;422;640;1065;1074	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	G|W	720|1074;1065;1074;1065;422;135	.|ENSP00000353030:S1074W;ENSP00000398822:S1065W;ENSP00000361491:S1074W;ENSP00000361490:S1065W;ENSP00000387885:S422W;ENSP00000361484:S135W	.|ENSP00000353030:S1074W	R|S	+|+	1|2	0|0	PTPRF|PTPRF	43843533|43843533	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.841000|0.841000	0.47740|0.47740	6.072000|6.072000	0.71238|0.71238	2.675000|2.675000	0.91044|0.91044	0.591000|0.591000	0.81541|0.81541	CGT|TCG		0.637	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			G	44070946	C	G	44070946	3	3	276	1	0	0	0	0	1	0	0	0	12807	893	31	4	3283	4	PTPRF	1	44070946	Missense_Mutation	SNP	C	TCGA-B8-4622-01A-02D-1553-08		44070946	205179675	1	16501											
VAX2	25806	broad.mit.edu	37	2	71160067	71160067	+	Silent	SNP	G	G	A			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr2:71160067G>A	ENST00000234392.2	+	3	638	c.606G>A	c.(604-606)gcG>gcA	p.A202A	ATP6V1B1_ENST00000234396.4_5'Flank|ATP6V1B1_ENST00000412314.1_5'Flank|snoU13_ENST00000459218.1_RNA	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	202					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A202A(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GCCTCCTGGCGCTGACCCCTA	0.687																																																1	Substitution - coding silent(1)	kidney(1)											29	34	32					2																	71160067		2203	4300	6503	SO:0001819	synonymous_variant	25806			Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"Homeoboxes / ANTP class : NKL subclass"	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.606G>A	2.37:g.71160067G>A			Q53Y33	Silent	SNP	ENST00000234392.2	37	CCDS1911.1																																																																																				0.687	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1			A	71160067	G	A	71160067	2	1	276	1	0	0	0	0	0	0	0	1	17140	1074	38	1		1	VAX2	2	71160067	Silent	SNP	G	TCGA-B8-4622-01A-02D-1553-08		71160067	172039306	2	16502											
IL1RL2	8808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	102851636	102851636	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr2:102851636delC	ENST00000264257.2	+	11	1703	c.1577delC	c.(1576-1578)accfs	p.T526fs	IL1RL2_ENST00000441515.2_Frame_Shift_Del_p.T408fs|IL1RL2_ENST00000539491.1_Frame_Shift_Del_p.T526fs|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	526	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGTATGAAGACCAAGTTTTGG	0.547											OREG0014848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													113	102	106					2																	102851636		2203	4300	6503	SO:0001589	frameshift_variant	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1577delC	2.37:g.102851636delC	ENSP00000264257:p.Thr526fs	1369	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Frame_Shift_Del	DEL	ENST00000264257.2	37	CCDS2056.1																																																																																				0.547	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		-	102851636	C	-	102851636	7	5	276	1	0	1	0	1	0	0	0	0	7666	507	18	0	1615	0	IL1RL2	2	102851636	Frame_Shift_Del	DEL	C	TCGA-B8-4622-01A-02D-1553-08	31691569	102851636	140347737	3	16503											
THSD7B	80731	hgsc.bcm.edu;ucsc.edu	37	2	137928375	137928375	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr2:137928375delT	ENST00000409968.1	+	7	1768	c.1590delT	c.(1588-1590)catfs	p.H530fs	THSD7B_ENST00000413152.2_Frame_Shift_Del_p.H499fs|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Frame_Shift_Del_p.H530fs			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	530	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTGCCCTCATTTGGTGGAGT	0.488																																																0													122	119	120					2																	137928375		2017	4184	6201	SO:0001589	frameshift_variant	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1590delT	2.37:g.137928375delT	ENSP00000387145:p.His530fs			Frame_Shift_Del	DEL	ENST00000409968.1	37																																																																																					0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		-	137928375	T	-	137928375	7	5	276	1	0	1	0	1	0	0	0	0	15885	1490	52	0	1519	0	THSD7B	2	137928375	Frame_Shift_Del	DEL	T	TCGA-B8-4622-01A-02D-1553-08	35076739	137928375	105270998	4	16504											
SCG2	7857	hgsc.bcm.edu;ucsc.edu	37	2	224463149	224463149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr2:224463149delG	ENST00000305409.2	-	2	1084	c.852delC	c.(850-852)cgcfs	p.R284fs		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCTGCCCTGAGCGTTTCATCT	0.413																																																0													161	165	164					2																	224463149		2203	4300	6503	SO:0001589	frameshift_variant	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.852delC	2.37:g.224463149delG	ENSP00000304133:p.Arg284fs		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL	ENST00000305409.2	37	CCDS2457.1																																																																																				0.413	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		-	224463149	G	-	224463149	7	5	276	1	0	1	0	1	0	0	0	0	13897	958	34	0	1005	0	SCG2	2	224463149	Frame_Shift_Del	DEL	G	TCGA-B8-4622-01A-02D-1553-08	86534774	224463149	18736224	5	16505											
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47163990	47164005	+	Frame_Shift_Del	DEL	TTTGACCAAAGGGGAT	TTTGACCAAAGGGGAT	-	rs200185785		TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	TTTGACCAAAGGGGAT	TTTGACCAAAGGGGAT	TTTGACCAAAGGGGAT	-	TTTGACCAAAGGGGAT	TTTGACCAAAGGGGAT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr3:47163990_47164005delTTTGACCAAAGGGGAT	ENST00000409792.3	-	3	2163_2178	c.2121_2136delATCCCCTTTGGTCAAA	c.(2119-2136)ttatcccctttggtcaaafs	p.LSPLVK707fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	707					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCATGCATGCTTTGACCAAAGGGGATAATTCCGATC	0.398			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2121_2136delATCCCCTTTGGTCAAA	3.37:g.47163990_47164005delTTTGACCAAAGGGGAT	ENSP00000386759:p.Leu707fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																				0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47164005	TTTGACCAAAGGGGAT	-	47163990	7	5	276	1	0	1	0	1	0	0	0	0	14137	1606	56	0	5634	0	SETD2	3	47163990	Frame_Shift_Del	DEL	TTTGACCAAAGGGGAT	TCGA-B8-4622-01A-02D-1553-08		47163990	150858440	6	16506											
AMOTL2	51421	hgsc.bcm.edu	37	3	134079242	134079243	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr3:134079242_134079243insC	ENST00000422605.2	-	7	1754_1755	c.1588_1589insG	c.(1588-1590)gccfs	p.A530fs	AMOTL2_ENST00000249883.5_Frame_Shift_Ins_p.A530fs|AMOTL2_ENST00000513145.1_Frame_Shift_Ins_p.A528fs|AMOTL2_ENST00000514516.1_Frame_Shift_Ins_p.A588fs			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	530					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						ACCACCTGGGGCACCTGCCTGT	0.619																																																0																																										SO:0001589	frameshift_variant	51421			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1589dupG	3.37:g.134079243_134079243dupC	ENSP00000409999:p.Ala530fs		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Frame_Shift_Ins	INS	ENST00000422605.2	37																																																																																					0.619	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		C	134079243	-	C	134079242	7	5	276	1	0	1	1	0	0	0	0	0	584	1203	42	0	769	0	AMOTL2	3	134079242	Frame_Shift_Ins	INS	-	TCGA-B8-4622-01A-02D-1553-08	86915252	134079242	63943188	7	16507											
AADAC	13	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	151545364	151545364	+	Splice_Site	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr3:151545364C>G	ENST00000232892.7	+	5	730	c.604C>G	c.(604-606)Ctc>Gtc	p.L202V	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	202					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.L202V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGCTTCTCAGCTCCTTGATGA	0.328																																					Ovarian(30;839 841 2699 32801 46334)											1	Substitution - Missense(1)	kidney(1)											73	72	72					3																	151545364		2203	4300	6503	SO:0001630	splice_region_variant	13			L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"arylacetamide deacetylase (esterase)"			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.604-1C>G	3.37:g.151545364C>G			A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003901	0.35320	.	.	ENSG00000114771	ENST00000232892	T	0.60299	0.2	4.67	3.78	0.43462	Alpha/beta hydrolase fold-3 (1);	0.064498	0.64402	D	0.000006	T	0.57257	0.2041	M	0.67953	2.075	0.80722	D	1	B	0.29531	0.247	B	0.33960	0.173	T	0.54364	-0.8305	9	.	.	.	-0.0126	14.2341	0.65913	0.15:0.85:0.0:0.0	.	202	P22760	AAAD_HUMAN	V	202	ENSP00000232892:L202V	.	L	+	1	0	AADAC	153028054	0.897000	0.30589	0.780000	0.31762	0.667000	0.39255	-0.016000	0.12613	0.895000	0.36342	0.591000	0.81541	CTC		0.328	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086	Missense_Mutation	G	151545364	C	G	151545364	5	3	276	1	0	0	0	0	0	0	1	0	10	811	28	4	622	4	AADAC	3	151545364	Splice_Site	SNP	C	TCGA-B8-4622-01A-02D-1553-08	17466122	151545364	46477066	8	16508											
MECOM	2122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	168833806	168833806	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr3:168833806C>A	ENST00000464456.1	-	7	2490	c.1290G>T	c.(1288-1290)atG>atT	p.M430I	MECOM_ENST00000468789.1_Missense_Mutation_p.M430I|MECOM_ENST00000472280.1_Missense_Mutation_p.M431I|MECOM_ENST00000460814.1_Missense_Mutation_p.M430I|MECOM_ENST00000494292.1_Missense_Mutation_p.M618I|MECOM_ENST00000433243.2_Missense_Mutation_p.M431I|MECOM_ENST00000264674.3_Missense_Mutation_p.M495I|MECOM_ENST00000392736.3_Missense_Mutation_p.M430I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M430I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTCTTTGAACATTTTACCAT	0.373																																																1	Substitution - Missense(1)	kidney(1)											243	229	234					3																	168833806		2203	4300	6503	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1290G>T	3.37:g.168833806C>A	ENSP00000419770:p.Met430Ile		Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	9.455	1.091573	0.20471	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05139	3.55;3.54;3.5;3.64;3.49;3.54;3.5;3.64	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.04048	0.0113	N	0.08118	0	0.38763	D	0.954363	B;B;B;B;B	0.31611	0.331;0.228;0.223;0.228;0.091	B;B;B;B;B	0.28465	0.09;0.053;0.026;0.053;0.024	T	0.52939	-0.8508	10	0.41790	T	0.15	-14.4535	13.3293	0.60477	0.0:0.9282:0.0:0.0718	.	618;431;618;495;430	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	I	495;430;430;431;618;430;430;431	ENSP00000264674:M495I;ENSP00000376493:M430I;ENSP00000419770:M430I;ENSP00000420048:M431I;ENSP00000417899:M618I;ENSP00000419995:M430I;ENSP00000420466:M430I;ENSP00000394302:M431I	ENSP00000264674:M495I	M	-	3	0	MECOM	170316500	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.917000	0.63369	2.756000	0.94617	0.655000	0.94253	ATG		0.373	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		A	168833806	C	A	168833806	3	1	276	1	0	0	0	0	1	0	0	0	9424	478	17	4	1905	4	MECOM	3	168833806	Missense_Mutation	SNP	C	TCGA-B8-4622-01A-02D-1553-08	17288442	168833806	29188624	9	16509											
UGT2A3	79799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	69816847	69816847	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr4:69816847T>G	ENST00000251566.4	-	1	662	c.632A>C	c.(631-633)aAt>aCt	p.N211T	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	211					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.N211T(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCATTGAATTTTTTACTCT	0.393																																																1	Substitution - Missense(1)	kidney(1)											52	54	53					4																	69816847		2203	4299	6502	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.632A>C	4.37:g.69816847T>G	ENSP00000251566:p.Asn211Thr		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.549644	0.45383	.	.	ENSG00000135220	ENST00000251566	T	0.73681	-0.77	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.90652	0.7068	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93270	0.6651	10	0.87932	D	0	.	12.2413	0.54544	0.0:0.0:0.0:1.0	.	211	Q6UWM9	UD2A3_HUMAN	T	211	ENSP00000251566:N211T	ENSP00000251566:N211T	N	-	2	0	UGT2A3	69851436	1.000000	0.71417	0.768000	0.31515	0.028000	0.11728	6.329000	0.72920	1.996000	0.58369	0.482000	0.46254	AAT		0.393	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		G	69816847	T	G	69816847	3	3	276	1	0	0	0	0	1	0	0	0	16960	1493	52	5	975	5	UGT2A3	4	69816847	Missense_Mutation	SNP	T	TCGA-B8-4622-01A-02D-1553-08		69816847	121337429	10	16510											
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85742692	85742692	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr4:85742692C>G	ENST00000295888.4	-	11	1543	c.1136G>C	c.(1135-1137)aGa>aCa	p.R379T	WDFY3_ENST00000322366.6_Missense_Mutation_p.R379T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	379					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R379T(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGGACGTTTCTCACACTGTG	0.343																																																1	Substitution - Missense(1)	kidney(1)											80	81	81					4																	85742692		2201	4297	6498	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1136G>C	4.37:g.85742692C>G	ENSP00000295888:p.Arg379Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667250	0.88348	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.18016	2.24;2.24	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.47249	-0.9132	10	0.87932	D	0	.	20.279	0.98512	0.0:1.0:0.0:0.0	.	379;379	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	T	379	ENSP00000318466:R379T;ENSP00000295888:R379T	ENSP00000295888:R379T	R	-	2	0	WDFY3	85961716	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.430000	0.80321	2.789000	0.95967	0.650000	0.86243	AGA		0.343	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		G	85742692	C	G	85742692	3	3	276	1	0	0	0	0	1	0	0	0	17275	913	32	4	9719	4	WDFY3	4	85742692	Missense_Mutation	SNP	C	TCGA-B8-4622-01A-02D-1553-08	15925845	85742692	105411584	11	16511											
PKHD1	5314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	51799018	51799018	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr6:51799018G>A	ENST00000371117.3	-	37	6286	c.6011C>T	c.(6010-6012)cCc>cTc	p.P2004L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2004L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2004	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.P2004L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCTTGGAAGGGCTTGTCTTC	0.537											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(2)											134	123	126					6																	51799018		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6011C>T	6.37:g.51799018G>A	ENSP00000360158:p.Pro2004Leu	980	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410995	0.62399	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92397	-3.03;-3.03	5.5	5.5	0.81552	G8 domain (2);	0.074933	0.56097	D	0.000030	D	0.95862	0.8653	M	0.85859	2.78	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.992;0.993;0.994	D	0.96197	0.9142	10	0.72032	D	0.01	.	15.5692	0.76320	0.0:0.1379:0.8621:0.0	.	2004;2004;2004	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	2004	ENSP00000360158:P2004L;ENSP00000341097:P2004L	ENSP00000341097:P2004L	P	-	2	0	PKHD1	51906977	1.000000	0.71417	0.902000	0.35471	0.417000	0.31264	5.587000	0.67510	2.565000	0.86533	0.655000	0.94253	CCC		0.537	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51799018	G	A	51799018	3	1	276	1	0	0	0	0	1	0	0	0	11973	1232	43	2	6376	2	PKHD1	6	51799018	Missense_Mutation	SNP	G	TCGA-B8-4622-01A-02D-1553-08		51799018	119316049	12	16512											
ABCB5	340273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	20682904	20682904	+	Silent	SNP	A	A	C			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:20682904A>C	ENST00000404938.2	+	6	1064	c.412A>C	c.(412-414)Agg>Cgg	p.R138R		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	138	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.R138R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ACAGACCAAGAGGATTCGAAA	0.423																																																1	Substitution - coding silent(1)	kidney(1)											98	82	87					7																	20682904		1568	3582	5150	SO:0001819	synonymous_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.412A>C	7.37:g.20682904A>C			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																				0.423	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		C	20682904	A	C	20682904	2	2	276	1	0	0	0	0	0	0	0	1	44	295	11	5		5	ABCB5	7	20682904	Silent	SNP	A	TCGA-B8-4622-01A-02D-1553-08		20682904	138455759	13	16513											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82595325	82595325	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:82595325T>C	ENST00000333891.9	-	4	4116	c.3779A>G	c.(3778-3780)cAg>cGg	p.Q1260R	PCLO_ENST00000423517.2_Missense_Mutation_p.Q1260R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q1260R(2)|p.Q1199R(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCATGTTTCTGTTCTTCTGG	0.423																																																3	Substitution - Missense(3)	kidney(3)											242	239	240					7																	82595325		1869	4103	5972	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3779A>G	7.37:g.82595325T>C	ENSP00000334319:p.Gln1260Arg			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.508639	0.27036	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16073	2.37;2.38	5.47	-0.0544	0.13813	.	.	.	.	.	T	0.10551	0.0258	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.30995	-0.9959	9	0.87932	D	0	.	4.2191	0.10549	0.2296:0.2025:0.0:0.5679	.	1260;1260	Q9Y6V0-5;Q9Y6V0-6	.;.	R	1199;1260;1260	ENSP00000334319:Q1260R;ENSP00000388393:Q1260R	ENSP00000334319:Q1260R	Q	-	2	0	PCLO	82433261	0.747000	0.28283	0.004000	0.12327	0.251000	0.25915	2.884000	0.48562	0.105000	0.17753	0.533000	0.62120	CAG		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82595325	T	C	82595325	3	2	276	1	0	0	0	0	1	0	0	0	11585	1580	55	3	11754	3	PCLO	7	82595325	Missense_Mutation	SNP	T	TCGA-B8-4622-01A-02D-1553-08	61912421	82595325	76543338	14	16514											
ZNF800	168850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127013660	127013660	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:127013660delG	ENST00000393313.1	-	5	2321	c.1730delC	c.(1729-1731)cctfs	p.P577fs	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Frame_Shift_Del_p.P577fs|ZNF800_ENST00000393312.1_Frame_Shift_Del_p.P577fs			Q2TB10	ZN800_HUMAN	zinc finger protein 800	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ATCCCTCGAAGGGCCTCTTTT	0.363																																																0													110	111	111					7																	127013660		2203	4299	6502	SO:0001589	frameshift_variant	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1730delC	7.37:g.127013660delG	ENSP00000376989:p.Pro577fs		Q9HBN0	Frame_Shift_Del	DEL	ENST00000393313.1	37	CCDS5795.1																																																																																				0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		-	127013660	G	-	127013660	7	5	276	1	0	1	0	1	0	0	0	0	18174	1000	35	0	272	0	ZNF800	7	127013660	Frame_Shift_Del	DEL	G	TCGA-B8-4622-01A-02D-1553-08	44418335	127013660	32125003	15	16515											
AHCYL2	23382	broad.mit.edu	37	7	128865042	128865042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:128865042delC	ENST00000325006.3	+	1	179	c.125delC	c.(124-126)gccfs	p.A42fs	AHCYL2_ENST00000446544.2_Frame_Shift_Del_p.A42fs	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	42					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGCGCCATGGCCCCCCCGGCG	0.786																																					Pancreas(160;1736 1964 29875 40941 45605)											0									,	14,2870		2,10,1430	4	5	4		,	2.5	0.8	7		4	32,6120		4,24,3048	no	frameshift,frameshift	AHCYL2	NM_015328.3,NM_001130720.2	,	6,34,4478	A1A1,A1R,RR		0.5202,0.4854,0.5091	,	,	128865042	46,8990	1736	3581	5317	SO:0001589	frameshift_variant	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.125delC	7.37:g.128865042delC	ENSP00000315931:p.Ala42fs		B4DIZ5|D9N155|O94917	Frame_Shift_Del	DEL	ENST00000325006.3	37	CCDS5812.1																																																																																				0.786	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			-	128865042	C	-	128865042	7	5	276	1	0	1	0	1	0	0	0	0	411	739	26	0	127	0	AHCYL2	7	128865042	Frame_Shift_Del	DEL	C	TCGA-B8-4622-01A-02D-1553-08	1851382	128865042	30273621	16	16516											
AGAP3	116988	broad.mit.edu	37	7	150825758	150825758	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr7:150825758A>C	ENST00000463381.1	+	10	1125	c.629A>C	c.(628-630)cAc>cCc	p.H210P	AGAP3_ENST00000397238.2_Missense_Mutation_p.H438P	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	402	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.H438P(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CTCACCTATCACCCCAGCCTG	0.587																																																1	Substitution - Missense(1)	kidney(1)											55	60	58					7																	150825758		2001	4155	6156	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.629A>C	7.37:g.150825758A>C	ENSP00000418016:p.His210Pro		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37		.	.	.	.	.	.	.	.	.	.	A	21.7	4.183337	0.78677	.	.	ENSG00000133612	ENST00000463381;ENST00000397238;ENST00000335355	T;T	0.17054	2.3;2.3	5.26	5.26	0.73747	.	0.128547	0.51477	D	0.000082	T	0.44705	0.1306	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.49031	-0.8981	10	0.87932	D	0	.	14.3791	0.66900	1.0:0.0:0.0:0.0	.	438;210	Q96P47-4;B3KNZ8	.;.	P	210;438;402	ENSP00000418016:H210P;ENSP00000380413:H438P	ENSP00000334157:H402P	H	+	2	0	AGAP3	150456691	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.262000	0.95591	1.996000	0.58369	0.533000	0.62120	CAC		0.587	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		C	150825758	A	C	150825758	3	2	276	1	0	0	0	0	1	0	0	0	369	159	6	5	1418	5	AGAP3	7	150825758	Missense_Mutation	SNP	A	TCGA-B8-4622-01A-02D-1553-08	21960716	150825758	8312905	17	16517											
SLC22A11	55867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64337144	64337144	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr11:64337144T>G	ENST00000301891.4	+	9	1777	c.1403T>G	c.(1402-1404)cTg>cGg	p.L468R	SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.L360R	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	468					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L468R(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GATGGCATTCTGCATACAGTG	0.617																																																1	Substitution - Missense(1)	kidney(1)											80	86	84					11																	64337144		2201	4297	6498	SO:0001583	missense	55867			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1403T>G	11.37:g.64337144T>G	ENSP00000301891:p.Leu468Arg		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603489	0.28534	.	.	ENSG00000168065	ENST00000301891;ENST00000377585	T;T	0.74526	-0.85;0.19	3.55	-0.795	0.10915	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.780187	0.10969	U	0.614119	T	0.72195	0.3430	L	0.58101	1.795	0.09310	N	1	P;D	0.55800	0.904;0.973	P;P	0.54815	0.571;0.761	T	0.60831	-0.7185	10	0.15499	T	0.54	.	4.4157	0.11455	0.3252:0.0:0.1658:0.509	.	360;468	Q9NSA0-2;Q9NSA0	.;S22AB_HUMAN	R	468;360	ENSP00000301891:L468R;ENSP00000366809:L360R	ENSP00000301891:L468R	L	+	2	0	SLC22A11	64093720	0.000000	0.05858	0.013000	0.15412	0.011000	0.07611	-0.385000	0.07379	0.077000	0.16863	0.397000	0.26171	CTG		0.617	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		G	64337144	T	G	64337144	3	3	276	1	0	0	0	0	1	0	0	0	14448	1580	55	5	1437	5	SLC22A11	11	64337144	Missense_Mutation	SNP	T	TCGA-B8-4622-01A-02D-1553-08		64337144	70669372	18	16518											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108196255	108196255	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr11:108196255C>T	ENST00000452508.2	+	47	6980	c.6791C>T	c.(6790-6792)aCt>aTt	p.T2264I	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2264I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2264	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.T2264I(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTGGCCAGAACTTTCAAGAAC	0.348			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	2	Substitution - Missense(2)	kidney(2)											77	75	76					11																	108196255		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6791C>T	11.37:g.108196255C>T	ENSP00000388058:p.Thr2264Ile		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265351	0.59431	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.69806	-0.43;-0.43	5.41	5.41	0.78517	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.335430	0.35407	N	0.003223	T	0.66934	0.2840	L	0.51422	1.61	0.80722	D	1	D	0.54601	0.967	P	0.51657	0.676	T	0.65549	-0.6141	10	0.38643	T	0.18	.	9.5278	0.39175	0.0:0.7811:0.1438:0.0751	.	2264	Q13315	ATM_HUMAN	I	2264	ENSP00000278616:T2264I;ENSP00000388058:T2264I	ENSP00000278616:T2264I	T	+	2	0	ATM	107701465	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	2.680000	0.46918	2.691000	0.91804	0.655000	0.94253	ACT		0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108196255	C	T	108196255	3	4	276	1	0	0	0	0	1	0	0	0	1109	565	20	2	6969	2	ATM	11	108196255	Missense_Mutation	SNP	C	TCGA-B8-4622-01A-02D-1553-08	43859111	108196255	26810261	19	16519											
LTA4H	4048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96414872	96414872	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr12:96414872delA	ENST00000228740.2	-	6	770	c.629delT	c.(628-630)ttafs	p.L210fs	LTA4H_ENST00000413268.2_Frame_Shift_Del_p.L186fs|LTA4H_ENST00000552789.1_Frame_Shift_Del_p.L186fs	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	210					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	CCTGCTTTCTAAAGCTCCAAC	0.398																																																0													92	85	87					12																	96414872		2203	4300	6503	SO:0001589	frameshift_variant	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.629delT	12.37:g.96414872delA	ENSP00000228740:p.Leu210fs		B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Frame_Shift_Del	DEL	ENST00000228740.2	37	CCDS9059.1																																																																																				0.398	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		-	96414872	A	-	96414872	7	5	276	1	0	1	0	1	0	0	0	0	9071	372	13	0	1262	0	LTA4H	12	96414872	Frame_Shift_Del	DEL	A	TCGA-B8-4622-01A-02D-1553-08		96414872	37437023	20	16520											
GLT8D2	83468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104387219	104387219	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr12:104387219A>C	ENST00000360814.4	-	10	1236	c.831T>G	c.(829-831)ttT>ttG	p.F277L	GLT8D2_ENST00000548660.1_Missense_Mutation_p.F277L|GLT8D2_ENST00000546436.1_Missense_Mutation_p.F277L	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	277						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.F277L(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ATTTCCCATGAAACACAATCA	0.423																																																1	Substitution - Missense(1)	kidney(1)											64	65	64					12																	104387219		2203	4300	6503	SO:0001583	missense	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.831T>G	12.37:g.104387219A>C	ENSP00000354053:p.Phe277Leu		Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983283	0.53827	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.57907	0.37;0.37;0.37	5.44	-5.83	0.02325	.	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.64918	-0.6294	10	0.51188	T	0.08	.	16.6385	0.85065	0.4819:0.0:0.5181:0.0	.	277	Q9H1C3	GL8D2_HUMAN	L	277	ENSP00000354053:F277L;ENSP00000449750:F277L;ENSP00000447450:F277L	ENSP00000354053:F277L	F	-	3	2	GLT8D2	102911349	1.000000	0.71417	0.145000	0.22337	0.407000	0.30961	1.299000	0.33424	-2.103000	0.00844	-1.937000	0.00501	TTT		0.423	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		C	104387219	A	C	104387219	3	2	276	1	0	0	0	0	1	0	0	0	6472	243	9	5	226	5	GLT8D2	12	104387219	Missense_Mutation	SNP	A	TCGA-B8-4622-01A-02D-1553-08	7972347	104387219	29464676	21	16521											
TDRD3	81550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	61103273	61103273	+	Silent	SNP	A	A	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr13:61103273A>G	ENST00000196169.3	+	11	2423	c.1635A>G	c.(1633-1635)gaA>gaG	p.E545E	TDRD3_ENST00000377894.2_Silent_p.E545E|TDRD3_ENST00000377881.2_Silent_p.E545E|TDRD3_ENST00000535286.1_Silent_p.E638E	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	545					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.E545E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAATACTAGAATCATCTATTC	0.383																																					Colon(36;164 906 35820 50723)											1	Substitution - coding silent(1)	kidney(1)											56	60	58					13																	61103273		2203	4300	6503	SO:0001819	synonymous_variant	81550			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1635A>G	13.37:g.61103273A>G			B2MWP9|Q53XA6|Q6P992	Silent	SNP	ENST00000196169.3	37	CCDS9441.1																																																																																				0.383	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		G	61103273	A	G	61103273	2	3	276	1	0	0	0	0	0	0	0	1	15737	98	4	3		3	TDRD3	13	61103273	Silent	SNP	A	TCGA-B8-4622-01A-02D-1553-08		61103273	54066605	22	16522											
FAM155A	728215	broad.mit.edu;ucsc.edu	37	13	108518837	108518837	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr13:108518837C>G	ENST00000375915.2	-	1	246	c.108G>C	c.(106-108)caG>caC	p.Q36H		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	36						integral component of membrane (GO:0016021)		p.Q36H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTCGCCATTTCTGAGCCCTCT	0.562																																																1	Substitution - Missense(1)	kidney(1)											162	171	168					13																	108518837		2203	4300	6503	SO:0001583	missense	728215			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.108G>C	13.37:g.108518837C>G	ENSP00000365080:p.Gln36His		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052153	0.75960	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	L	0.50333	1.59	0.50313	D	0.999869	D	0.67145	0.996	D	0.79784	0.993	T	0.77874	-0.2425	9	0.87932	D	0	.	17.5823	0.87972	0.0:1.0:0.0:0.0	.	36	B1AL88	F155A_HUMAN	H	36	.	ENSP00000365080:Q36H	Q	-	3	2	FAM155A	107316838	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.436000	0.66538	2.390000	0.81377	0.650000	0.86243	CAG		0.562	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		G	108518837	C	G	108518837	3	3	276	1	0	0	0	0	1	0	0	0	5467	912	32	4	1280	4	FAM155A	13	108518837	Missense_Mutation	SNP	C	TCGA-B8-4622-01A-02D-1553-08	47415564	108518837	6651041	23	16523											
ZFYVE26	23503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68234548	68234548	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr14:68234548C>G	ENST00000347230.4	-	31	5801	c.5663G>C	c.(5662-5664)aGc>aCc	p.S1888T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1888T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1888					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.S1888T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATTCTTGGAGCTGTCTAGAGC	0.483																																																1	Substitution - Missense(1)	kidney(1)											114	102	106					14																	68234548		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5663G>C	14.37:g.68234548C>G	ENSP00000251119:p.Ser1888Thr		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	5.296	0.239931	0.10023	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.30714	1.67;1.52	5.77	4.89	0.63831	Zinc finger, FYVE/PHD-type (1);	0.260218	0.46442	D	0.000296	T	0.28267	0.0698	M	0.62723	1.935	0.09310	N	1	B;B	0.29988	0.264;0.067	B;B	0.24701	0.055;0.012	T	0.19516	-1.0303	10	0.35671	T	0.21	-5.2451	8.823	0.35039	0.0:0.7229:0.1949:0.0823	.	1888;1888	G3V2D8;Q68DK2	.;ZFY26_HUMAN	T	1888;1867;1888	ENSP00000251119:S1888T;ENSP00000450603:S1888T	ENSP00000251119:S1888T	S	-	2	0	ZFYVE26	67304301	0.849000	0.29639	0.139000	0.22197	0.088000	0.18126	1.894000	0.39768	1.460000	0.47911	0.561000	0.74099	AGC		0.483	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		G	68234548	C	G	68234548	3	3	276	1	0	0	0	0	1	0	0	0	17673	797	28	4	2004	4	ZFYVE26	14	68234548	Missense_Mutation	SNP	C	TCGA-B8-4622-01A-02D-1553-08		68234548	39114992	24	16524											
SLC27A2	11001	hgsc.bcm.edu	37	15	50474899	50474900	+	Frame_Shift_Ins	INS	-	-	T	rs143557372|rs34490804	byFrequency	TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr15:50474899_50474900insT	ENST00000267842.5	+	1	507_508	c.275_276insT	c.(274-279)gcccggfs	p.R93fs	SLC27A2_ENST00000380902.4_Frame_Shift_Ins_p.R93fs	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	93					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AATCAAGTGGCCCGGGCGCTGC	0.658																																																0																																										SO:0001589	frameshift_variant	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	Exception_encountered	15.37:g.50474899_50474900insT	ENSP00000267842:p.Arg93fs		A8K2J7|Q53FY6|Q6PF09	Frame_Shift_Ins	INS	ENST00000267842.5	37	CCDS10133.1																																																																																				0.658	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		T	50474900	-	T	50474899	7	5	276	1	0	1	1	0	0	0	0	0	14532	739	26	0	277	0	SLC27A2	15	50474899	Frame_Shift_Ins	INS	-	TCGA-B8-4622-01A-02D-1553-08		50474899	52056493	25	16525											
IGDCC3	9543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65621770	65621770	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr15:65621770G>T	ENST00000327987.4	-	13	2414	c.2163C>A	c.(2161-2163)ttC>ttA	p.F721L	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	721					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.F721L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCCGGGGGGAACAGCTGCT	0.637																																																1	Substitution - Missense(1)	kidney(1)											70	84	79					15																	65621770		2198	4292	6490	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2163C>A	15.37:g.65621770G>T	ENSP00000332773:p.Phe721Leu		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249881	0.59212	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.67345	-0.26	5.95	3.06	0.35304	.	0.063222	0.64402	D	0.000004	T	0.52419	0.1733	L	0.29908	0.895	0.42328	D	0.992287	P	0.41393	0.748	B	0.38842	0.283	T	0.53129	-0.8482	10	0.72032	D	0.01	-20.8609	10.1511	0.42794	0.2065:0.0:0.7935:0.0	.	721	Q8IVU1	IGDC3_HUMAN	L	721;545	ENSP00000332773:F721L	ENSP00000332773:F721L	F	-	3	2	IGDCC3	63408823	1.000000	0.71417	0.972000	0.41901	0.471000	0.32888	0.884000	0.28214	0.412000	0.25729	0.655000	0.94253	TTC		0.637	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		T	65621770	G	T	65621770	3	4	276	1	0	0	0	0	1	0	0	0	7570	1165	41	4	289	4	IGDCC3	15	65621770	Missense_Mutation	SNP	G	TCGA-B8-4622-01A-02D-1553-08	15146871	65621770	36909622	26	16526											
TLE3	7090	hgsc.bcm.edu;ucsc.edu	37	15	70368448	70368448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr15:70368448delA	ENST00000558939.1	-	5	1661	c.284delT	c.(283-285)ttcfs	p.F95fs	TLE3_ENST00000539550.1_Frame_Shift_Del_p.F29fs|TLE3_ENST00000560939.1_Frame_Shift_Del_p.F101fs|TLE3_ENST00000317509.8_Frame_Shift_Del_p.F95fs|TLE3_ENST00000557997.1_Frame_Shift_Del_p.F95fs|TLE3_ENST00000451782.2_Frame_Shift_Del_p.F95fs|TLE3_ENST00000560589.1_Frame_Shift_Del_p.F39fs|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558201.1_Frame_Shift_Del_p.F101fs|TLE3_ENST00000442299.2_Frame_Shift_Del_p.F95fs|TLE3_ENST00000557907.1_Frame_Shift_Del_p.F95fs|TLE3_ENST00000559929.1_Frame_Shift_Del_p.F95fs|TLE3_ENST00000440567.3_Frame_Shift_Del_p.F88fs|TLE3_ENST00000559048.1_Frame_Shift_Del_p.F101fs|TLE3_ENST00000558379.1_Frame_Shift_Del_p.F95fs	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	95	Gln-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGTGACAGGAAAGGCATGAT	0.468																																																0													171	164	166					15																	70368448		1936	4123	6059	SO:0001589	frameshift_variant	7090			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.284delT	15.37:g.70368448delA	ENSP00000452871:p.Phe95fs		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Frame_Shift_Del	DEL	ENST00000558939.1	37	CCDS45293.1																																																																																				0.468	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		-	70368448	A	-	70368448	7	5	276	1	0	1	0	1	0	0	0	0	15945	246	9	0	2098	0	TLE3	15	70368448	Frame_Shift_Del	DEL	A	TCGA-B8-4622-01A-02D-1553-08	4746678	70368448	32162944	27	16527											
CCNF	899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2506955	2506955	+	Silent	SNP	G	G	A			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr16:2506955G>A	ENST00000397066.4	+	17	2383	c.2295G>A	c.(2293-2295)gtG>gtA	p.V765V	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	765	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)		p.V765V(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				AGCAACAGGTGAAGCGGATAA	0.557																																																2	Substitution - coding silent(2)	kidney(2)											81	69	73					16																	2506955		2198	4300	6498	SO:0001819	synonymous_variant	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.2295G>A	16.37:g.2506955G>A			B2R8H3|Q96EG9	Silent	SNP	ENST00000397066.4	37	CCDS10467.1																																																																																				0.557	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		A	2506955	G	A	2506955	2	1	276	1	0	0	0	0	0	0	0	1	2924	1277	45	2		2	CCNF	16	2506955	Silent	SNP	G	TCGA-B8-4622-01A-02D-1553-08		2506955	87847798	28	16528											
KIAA0174	9798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71961539	71961539	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr16:71961539C>G	ENST00000329908.8	+	10	982	c.920C>G	c.(919-921)cCt>cGt	p.P307R	PKD1L3_ENST00000534738.1_RNA|IST1_ENST00000378799.6_Silent_p.A308A|IST1_ENST00000606369.1_Silent_p.A160A|IST1_ENST00000378798.5_Silent_p.A277A|IST1_ENST00000535424.1_Silent_p.A321A|IST1_ENST00000544564.1_Silent_p.A308A|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000541571.2_Silent_p.A308A|IST1_ENST00000538850.1_Silent_p.A160A|RP11-498D10.5_ENST00000567146.1_RNA|RP11-498D10.6_ENST00000573861.1_RNA	NM_001270975.1|NM_014761.3	NP_001257904.1|NP_055576.2	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	0	Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.P307R(1)									AGCCAGAAGCCTCTGCAAAGC	0.468																																																1	Substitution - Missense(1)	kidney(1)											142	144	144					16																	71961539		2198	4300	6498	SO:0001583	missense	0			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000329908.8:c.920C>G	16.37:g.71961539C>G	ENSP00000330408:p.Pro307Arg		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000329908.8	37	CCDS10905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.96|11.96	1.793322|1.793322	0.31685|0.31685	.|.	.|.	ENSG00000182149|ENSG00000182149	ENST00000541848|ENST00000329908	.|.	.|.	.|.	5.33|5.33	-0.365|-0.365	0.12549|0.12549	.|.	.|.	.|.	.|.	.|.	T|T	0.44201|0.44201	0.1282|0.1282	.|.	.|.	.|.	0.45883|0.45883	D|D	0.998733|0.998733	.|B	.|0.18863	.|0.031	.|B	.|0.28465	.|0.09	T|T	0.24154|0.24154	-1.0168|-1.0168	4|7	.|0.48119	.|T	.|0.1	-2.0504|-2.0504	5.0764|5.0764	0.14634|0.14634	0.1341:0.4304:0.0:0.4354|0.1341:0.4304:0.0:0.4354	.|.	.|307	.|P53990-3	.|.	V|R	163|307	.|.	.|ENSP00000330408:P307R	L|P	+|+	1|2	0|0	KIAA0174|KIAA0174	70519040|70519040	0.006000|0.006000	0.16342|0.16342	0.820000|0.820000	0.32676|0.32676	0.916000|0.916000	0.54674|0.54674	-0.012000|-0.012000	0.12699|0.12699	-0.050000|-0.050000	0.13356|0.13356	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.468	IST1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269006.1	NM_014761		G	71961539	C	G	71961539	3	3	276	1	0	0	0	0	1	0	0	0	8160	681	24	4	954	4	KIAA0174	16	71961539	Missense_Mutation	SNP	C	TCGA-B8-4622-01A-02D-1553-08	69454584	71961539	18393214	29	16529											
DNAH17	8632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76506511	76506511	+	Silent	SNP	G	G	T			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr17:76506511G>T	ENST00000585328.1	-	27	4306	c.4182C>A	c.(4180-4182)gtC>gtA	p.V1394V	DNAH17_ENST00000389840.5_Silent_p.V1393V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1393	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1394V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGATGTTGCGGACCTCATCCT	0.532																																																1	Substitution - coding silent(1)	kidney(1)											164	166	165					17																	76506511		2091	4210	6301	SO:0001819	synonymous_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4182C>A	17.37:g.76506511G>T			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																					0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76506511	G	T	76506511	2	4	276	1	0	0	0	0	0	0	0	1	4603	1161	41	4		4	DNAH17	17	76506511	Silent	SNP	G	TCGA-B8-4622-01A-02D-1553-08		76506511	4688699	30	16530											
C20orf94	128710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	10604013	10604013	+	Nonsense_Mutation	SNP	G	G	T	rs373901401		TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr20:10604013G>T	ENST00000334534.5	+	8	1393	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	405								p.E405*(1)									AAAGAAATACGAAAGAGGCCA	0.448																																																1	Substitution - Nonsense(1)	kidney(1)											40	42	41					20																	10604013		2202	4297	6499	SO:0001587	stop_gained	0			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"chromosome 20 open reading frame 94"	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1213G>T	20.37:g.10604013G>T	ENSP00000335557:p.Glu405*		Q05CG2|Q05CT9	Nonsense_Mutation	SNP	ENST00000334534.5	37	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464085	0.43736	.	.	ENSG00000149346	ENST00000334534	.	.	.	3.49	-0.832	0.10785	.	2.149940	0.02129	N	0.056225	.	.	.	.	.	.	0.20307	N	0.999918	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	0.4618	2.3964	0.04391	0.3357:0.0:0.207:0.4573	.	.	.	.	X	405	.	ENSP00000335557:E405X	E	+	1	0	C20orf94	10552013	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.249000	0.08842	-0.092000	0.12417	0.650000	0.86243	GAA		0.448	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		T	10604013	G	T	10604013	4	4	276	1	0	0	0	0	0	1	0	0	2123	1059	37	4	1239	4	C20orf94	20	10604013	Nonsense_Mutation	SNP	G	TCGA-B8-4622-01A-02D-1553-08		10604013	52421507	31	16531											
NEFH	4744	broad.mit.edu;hgsc.bcm.edu	37	22	29879399	29879399	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chr22:29879399A>G	ENST00000310624.6	+	2	952	c.919A>G	c.(919-921)Aac>Gac	p.N307D		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	307	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.N307D(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCCAAGGTGAACACAGACGC	0.587																																																1	Substitution - Missense(1)	kidney(1)											146	146	146					22																	29879399		2203	4300	6503	SO:0001583	missense	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.919A>G	22.37:g.29879399A>G	ENSP00000311997:p.Asn307Asp		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196501	0.79015	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.89681	-2.55	5.62	5.62	0.85841	Filament (1);	0.000000	0.53938	D	0.000043	D	0.94098	0.8108	M	0.73430	2.235	0.51767	D	0.999932	D	0.89917	1.0	D	0.83275	0.996	D	0.94732	0.7910	10	0.87932	D	0	.	15.8326	0.78769	1.0:0.0:0.0:0.0	.	307	P12036	NFH_HUMAN	D	307	ENSP00000311997:N307D	ENSP00000311997:N307D	N	+	1	0	NEFH	28209399	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	9.007000	0.93597	2.142000	0.66516	0.528000	0.53228	AAC		0.587	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		G	29879399	A	G	29879399	3	3	276	1	0	0	0	0	1	0	0	0	10316	246	9	3	925	3	NEFH	22	29879399	Missense_Mutation	SNP	A	TCGA-B8-4622-01A-02D-1553-08		29879399	21425167	32	16532											
KLF8	11279	broad.mit.edu	37	X	56310756	56310756	+	Silent	SNP	T	T	G			TCGA-B8-4622-01A-02D-1553-08	TCGA-B8-4622-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9713397b-0a7c-4fc6-a7b3-042a56d11d1e	153d19e5-72d1-478f-818e-42cc4ac138e2	g.chrX:56310756T>G	ENST00000468660.1	+	6	1197	c.909T>G	c.(907-909)ccT>ccG	p.P303P	KLF8_ENST00000374928.3_Missense_Mutation_p.L257V	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P303P(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GAGAGAAGCCTTATAAATGCA	0.443																																																1	Substitution - coding silent(1)	kidney(1)											31	29	29					X																	56310756		2203	4296	6499	SO:0001819	synonymous_variant	11279			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.909T>G	X.37:g.56310756T>G			B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243818	0.39697	.	.	ENSG00000102349	ENST00000374928	.	.	.	3.87	2.56	0.30785	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.09310	N	0.999995	P	0.35745	0.518	B	0.32533	0.147	T	0.18681	-1.0329	7	0.72032	D	0.01	.	5.6083	0.17391	0.3934:0.0:0.0:0.6066	.	257	E7EQQ8	.	V	257	.	ENSP00000364063:L257V	L	+	1	2	KLF8	56327481	0.087000	0.21565	1.000000	0.80357	0.988000	0.76386	-0.924000	0.03996	1.554000	0.49487	0.479000	0.44913	TTA		0.443	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		G	56310756	T	G	56310756	2	3	276	1	0	0	0	0	0	0	0	1	8354	1606	56	5		5	KLF8	23	56310756	Silent	SNP	T	TCGA-B8-4622-01A-02D-1553-08		56310756	98959804	33	16533											
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16257994	16257995	+	Missense_Mutation	DNP	TG	TG	CA			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:16257994_16257995TG>CA	ENST00000375759.3	+	11	5463_5464	c.5259_5260TG>CA	c.(5257-5262)ccTGac>ccCAac	p.D1754N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1754					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P1753>?(1)|p.P1753P(1)|p.D1754N(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCCAGAGCCTGACAGTACCCA	0.564																																																3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	Exception_encountered	1.37:g.16257994_16257995delinsCA	ENSP00000364912:p.Asp1754Asn		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent|Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.564	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		CA	16257995	TG	CA	16257994	3	2	277	1	0	0	0	0	1	0	0	0	15043	1567	55	3	5301	3	SPEN	1	16257994	Missense_Mutation	DNP	TG	TCGA-B8-5158-01A-01D-1421-08		16257994	232992627	1	16534											
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16262076	16262076	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:16262076C>G	ENST00000375759.3	+	11	9545	c.9341C>G	c.(9340-9342)cCa>cGa	p.P3114R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3114					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P3114R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCATCCGGCCAGAAGCGCTT	0.652																																																1	Substitution - Missense(1)	kidney(1)											56	51	53					1																	16262076		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9341C>G	1.37:g.16262076C>G	ENSP00000364912:p.Pro3114Arg		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212725	0.39102	.	.	ENSG00000065526	ENST00000375759	T	0.10099	2.91	5.1	5.1	0.69264	.	.	.	.	.	T	0.30008	0.0751	M	0.63428	1.95	0.42698	D	0.993606	D	0.69078	0.997	D	0.66602	0.945	T	0.01140	-1.1439	9	0.37606	T	0.19	-8.9069	18.4992	0.90875	0.0:1.0:0.0:0.0	.	3114	Q96T58	MINT_HUMAN	R	3114	ENSP00000364912:P3114R	ENSP00000364912:P3114R	P	+	2	0	SPEN	16134663	0.323000	0.24643	0.986000	0.45419	0.953000	0.61014	4.117000	0.57877	2.377000	0.81083	0.491000	0.48974	CCA		0.652	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		G	16262076	C	G	16262076	3	3	277	1	0	0	0	0	1	0	0	0	15043	594	21	4	9383	4	SPEN	1	16262076	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08	4082	16262076	232988545	2	16535											
BSDC1	55108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32842063	32842063	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:32842063A>T	ENST00000455895.2	-	9	989	c.956T>A	c.(955-957)cTg>cAg	p.L319Q	BSDC1_ENST00000526031.1_Missense_Mutation_p.L224Q|BSDC1_ENST00000446293.2_Missense_Mutation_p.L336Q|BSDC1_ENST00000419121.2_Missense_Mutation_p.L263Q|BSDC1_ENST00000341071.7_Missense_Mutation_p.L336Q|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000413080.1_Missense_Mutation_p.L258Q|BSDC1_ENST00000449308.1_Missense_Mutation_p.L319Q	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	319								p.L336Q(2)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATCCACAGCCAGGCCCTGTTC	0.642																																																2	Substitution - Missense(2)	kidney(2)											91	84	87					1																	32842063		2203	4300	6503	SO:0001583	missense	55108			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.956T>A	1.37:g.32842063A>T	ENSP00000412173:p.Leu319Gln		B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	CCDS363.2	.	.	.	.	.	.	.	.	.	.	A	0.417	-0.910067	0.02434	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	-7.3	0.01446	.	1.220010	0.05520	N	0.561909	T	0.23688	0.0573	L	0.44542	1.39	0.09310	N	1	B;B;B;P;B	0.36753	0.284;0.135;0.284;0.568;0.083	B;B;B;B;B	0.35073	0.128;0.097;0.097;0.195;0.045	T	0.14727	-1.0462	9	0.14252	T	0.57	0.7124	8.5519	0.33458	0.1569:0.0:0.5578:0.2854	.	224;263;336;336;319	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	Q	319;258;336;224;263;336;319	.	ENSP00000344816:L336Q	L	-	2	0	BSDC1	32614650	0.861000	0.29849	0.006000	0.13384	0.122000	0.20287	0.804000	0.27098	-1.397000	0.02068	-0.464000	0.05259	CTG		0.642	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		T	32842063	A	T	32842063	3	4	277	1	0	0	0	0	1	0	0	0	1530	188	7	5	348	5	BSDC1	1	32842063	Missense_Mutation	SNP	A	TCGA-B8-5158-01A-01D-1421-08	16579987	32842063	216408558	3	16536											
EPHA10	284656	broad.mit.edu;hgsc.bcm.edu	37	1	38192872	38192872	+	Silent	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:38192872C>A	ENST00000373048.4	-	8	1673	c.1674G>T	c.(1672-1674)ggG>ggT	p.G558G	EPHA10_ENST00000427468.2_Silent_p.G558G|EPHA10_ENST00000540011.1_Silent_p.G53G|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.G53G	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	558					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.G559G(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTCCCTGGACCCTGAGGCAG	0.632																																																1	Substitution - coding silent(1)	kidney(1)											43	58	53					1																	38192872		2034	4180	6214	SO:0001819	synonymous_variant	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1674G>T	1.37:g.38192872C>A			A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	CCDS41305.1																																																																																				0.632	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		A	38192872	C	A	38192872	2	1	277	1	0	0	0	0	0	0	0	1	5168	494	18	4		4	EPHA10	1	38192872	Silent	SNP	C	TCGA-B8-5158-01A-01D-1421-08	5350809	38192872	211057749	4	16537											
FAM73A	374986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78325069	78325069	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:78325069C>A	ENST00000370791.3	+	10	1218	c.1186C>A	c.(1186-1188)Cag>Aag	p.Q396K	FAM73A_ENST00000443751.2_Missense_Mutation_p.Q358K	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	396						integral component of membrane (GO:0016021)		p.Q396K(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		ACAGGCTTTTCAGGTATTTTT	0.423																																																1	Substitution - Missense(1)	kidney(1)											86	82	83					1																	78325069		2203	4300	6503	SO:0001583	missense	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1186C>A	1.37:g.78325069C>A	ENSP00000359827:p.Gln396Lys		Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	CCDS681.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540700	0.85917	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.23552	1.9;1.9	5.4	5.4	0.78164	.	0.056426	0.64402	D	0.000001	T	0.30665	0.0772	L	0.57536	1.79	0.80722	D	1	P;D;D	0.57257	0.885;0.979;0.979	P;P;P	0.52343	0.465;0.696;0.696	T	0.01587	-1.1318	10	0.42905	T	0.14	-21.14	19.1567	0.93514	0.0:1.0:0.0:0.0	.	358;396;396	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	K	396;358	ENSP00000359827:Q396K;ENSP00000393675:Q358K	ENSP00000359827:Q396K	Q	+	1	0	FAM73A	78097657	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.314000	0.59166	2.527000	0.85204	0.655000	0.94253	CAG		0.423	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		A	78325069	C	A	78325069	3	1	277	1	0	0	0	0	1	0	0	0	5619	827	29	4	1224	4	FAM73A	1	78325069	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08	40132197	78325069	170925552	5	16538											
S100A10	6281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151955649	151955649	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:151955649C>A	ENST00000368811.3	-	3	943	c.284G>T	c.(283-285)gGa>gTa	p.G95V	S100A10_ENST00000368809.1_Missense_Mutation_p.G95V|S100A10_ENST00000478574.1_5'Flank	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	95					cellular response to acid chemical (GO:0071229)|establishment of protein localization to plasma membrane (GO:0090002)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|positive regulation of binding (GO:0051099)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein heterotetramerization (GO:0051290)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)	p.G95V(1)|p.G95E(1)		breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTACTTCTTTCCCTTCTGCTT	0.483																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)											195	203	200					1																	151955649		2203	4300	6503	SO:0001583	missense	6281			BC015973	CCDS1008.1	1q21	2012-04-04	2006-09-11		ENSG00000197747	ENSG00000197747		"S100 calcium binding proteins"	10487	protein-coding gene	gene with protein product	"annexin II tetramer (AIIt) p11 subunit"	114085	"S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))", "S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"	ANX2LG, CAL1L		8276421	Standard	NM_002966		Approved	P11, 42C, CLP11	uc001ezl.3	P60903	OTTHUMG00000013068	ENST00000368811.3:c.284G>T	1.37:g.151955649C>A	ENSP00000357801:p.Gly95Val		A8K4V8|P08206|Q5T1C5	Missense_Mutation	SNP	ENST00000368811.3	37	CCDS1008.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944271	0.73672	.	.	ENSG00000197747	ENST00000368811;ENST00000368809	T;T	0.05855	3.38;3.38	5.56	5.56	0.83823	.	0.422619	0.25720	N	0.028742	T	0.04497	0.0123	.	.	.	0.80722	D	1	P	0.34780	0.468	B	0.39503	0.301	T	0.10567	-1.0624	9	0.87932	D	0	.	10.2653	0.43452	0.0:0.913:0.0:0.087	.	95	P60903	S10AA_HUMAN	V	95	ENSP00000357801:G95V;ENSP00000357799:G95V	ENSP00000357799:G95V	G	-	2	0	S100A10	150222273	0.375000	0.25089	0.984000	0.44739	0.982000	0.71751	2.801000	0.47908	2.890000	0.99128	0.655000	0.94253	GGA		0.483	S100A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036673.1	NM_002966		A	151955649	C	A	151955649	3	1	277	1	0	0	0	0	1	0	0	0	13778	855	30	4	13	4	S100A10	1	151955649	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08	73630580	151955649	97294972	6	16539											
FLG	2312	broad.mit.edu;hgsc.bcm.edu	37	1	152283060	152283060	+	Missense_Mutation	SNP	G	G	T	rs201565622		TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:152283060G>T	ENST00000368799.1	-	3	4337	c.4302C>A	c.(4300-4302)agC>agA	p.S1434R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1434	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1434R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACGTCCAGAGCTTTCCCCTG	0.557									Ichthyosis																																							1	Substitution - Missense(1)	kidney(1)											197	196	196					1																	152283060		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4302C>A	1.37:g.152283060G>T	ENSP00000357789:p.Ser1434Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	2.718	-0.267264	0.05754	.	.	ENSG00000143631	ENST00000368799	T	0.02258	4.37	2.84	-5.68	0.02436	.	.	.	.	.	T	0.00241	0.0007	N	0.00642	-1.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42599	-0.9442	9	0.15066	T	0.55	.	9.2116	0.37322	0.1618:0.2265:0.6117:0.0	.	1434	P20930	FILA_HUMAN	R	1434	ENSP00000357789:S1434R	ENSP00000357789:S1434R	S	-	3	2	FLG	150549684	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.082000	0.03400	-1.689000	0.01434	-0.227000	0.12334	AGC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152283060	G	T	152283060	3	4	277	1	0	0	0	0	1	0	0	0	5924	962	34	4	7887	4	FLG	1	152283060	Missense_Mutation	SNP	G	TCGA-B8-5158-01A-01D-1421-08	327411	152283060	96967561	7	16540											
COPA	1314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160261217	160261217	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:160261217T>C	ENST00000241704.7	-	31	3557	c.3328A>G	c.(3328-3330)Aat>Gat	p.N1110D	COPA_ENST00000368069.3_Missense_Mutation_p.N1119D	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1110					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.N1119D(1)|p.N1110D(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGAACAGATTGAGGGCTGTA	0.547											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(2)											100	89	92					1																	160261217		2203	4300	6503	SO:0001583	missense	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3328A>G	1.37:g.160261217T>C	ENSP00000241704:p.Asn1110Asp	1807	Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892313	0.91889	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.50277	0.75;0.75	5.97	5.97	0.96955	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65595	0.2706	M	0.88450	2.955	0.80722	D	1	P;P	0.51791	0.71;0.948	P;P	0.62435	0.755;0.902	T	0.71234	-0.4653	10	0.51188	T	0.08	-25.9874	15.2848	0.73819	0.0:0.0:0.0:1.0	.	1110;1119	P53621;P53621-2	COPA_HUMAN;.	D	1119;1110	ENSP00000357048:N1119D;ENSP00000241704:N1110D	ENSP00000241704:N1110D	N	-	1	0	COPA	158527841	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.288000	0.76882	0.533000	0.62120	AAT		0.547	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		C	160261217	T	C	160261217	3	2	277	1	0	0	0	0	1	0	0	0	3729	1812	63	3	358	3	COPA	1	160261217	Missense_Mutation	SNP	T	TCGA-B8-5158-01A-01D-1421-08	7978157	160261217	88989404	8	16541											
FAM5B	57795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	177199237	177199237	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:177199237G>T	ENST00000361539.4	+	2	537	c.225G>T	c.(223-225)atG>atT	p.M75I		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	75					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.M75I(1)									CTGACTTCATGGAGCGGTACC	0.617																																																1	Substitution - Missense(1)	kidney(1)											58	63	62					1																	177199237		2203	4299	6502	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.225G>T	1.37:g.177199237G>T	ENSP00000354481:p.Met75Ile		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276275	0.40294	.	.	ENSG00000198797	ENST00000361539	T	0.12984	2.63	5.63	5.63	0.86233	.	0.114949	0.56097	D	0.000024	T	0.12944	0.0314	L	0.40543	1.245	0.40975	D	0.984733	B	0.09022	0.002	B	0.12156	0.007	T	0.05616	-1.0874	10	0.33940	T	0.23	-18.7681	12.6262	0.56630	0.0757:0.0:0.9243:0.0	.	75	Q9C0B6	FAM5B_HUMAN	I	75	ENSP00000354481:M75I	ENSP00000354481:M75I	M	+	3	0	FAM5B	175465860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.877000	0.39598	2.652000	0.90054	0.655000	0.94253	ATG		0.617	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		T	177199237	G	T	177199237	3	4	277	1	0	0	0	0	1	0	0	0	5595	1348	47	4	227	4	FAM5B	1	177199237	Missense_Mutation	SNP	G	TCGA-B8-5158-01A-01D-1421-08	16938020	177199237	72051384	9	16542											
LAMC2	3918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183204764	183204764	+	Nonsense_Mutation	SNP	T	T	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:183204764T>G	ENST00000264144.4	+	16	2420	c.2355T>G	c.(2353-2355)taT>taG	p.Y785*	LAMC2_ENST00000493293.1_Nonsense_Mutation_p.Y785*	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	785	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.Y785*(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTGAGGACTATTCCAAACAAG	0.517											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	kidney(1)											112	98	103					1																	183204764		2203	4300	6503	SO:0001587	stop_gained	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2355T>G	1.37:g.183204764T>G	ENSP00000264144:p.Tyr785*	1982	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Nonsense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	T	36	5.882579	0.97062	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	.	.	.	5.84	-0.673	0.11373	.	0.786356	0.11335	N	0.574673	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7308	0.18038	0.0:0.3027:0.1452:0.5522	.	.	.	.	X	785	.	ENSP00000264144:Y785X	Y	+	3	2	LAMC2	181471387	0.012000	0.17670	0.002000	0.10522	0.606000	0.37113	-0.343000	0.07791	-0.358000	0.08162	-0.256000	0.11100	TAT		0.517	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		G	183204764	T	G	183204764	4	3	277	1	0	0	0	0	0	1	0	0	8617	1500	52	5	2417	5	LAMC2	1	183204764	Nonsense_Mutation	SNP	T	TCGA-B8-5158-01A-01D-1421-08	6005527	183204764	66045857	10	16543											
PRKD3	23683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	37486752	37486752	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr2:37486752G>T	ENST00000379066.1	-	16	2881	c.2119C>A	c.(2119-2121)Ctt>Att	p.L707I	PRKD3_ENST00000234179.2_Missense_Mutation_p.L707I			O94806	KPCD3_HUMAN	protein kinase D3	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.L707I(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GCTGATGCAAGCAGCACATTT	0.358																																					Melanoma(80;621 1355 8613 11814 51767)											2	Substitution - Missense(2)	kidney(2)											102	100	100					2																	37486752		2203	4300	6503	SO:0001583	missense	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2119C>A	2.37:g.37486752G>T	ENSP00000368356:p.Leu707Ile		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.59|19.59	3.856979|3.856979	0.71834|0.71834	.|.	.|.	ENSG00000115825|ENSG00000115825	ENST00000452104|ENST00000379066;ENST00000234179	.|T;T	.|0.66460	.|-0.21;-0.21	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	.|T	.|0.75354	.|0.3838	L|L	0.42529|0.42529	1.33|1.33	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	.|T	.|0.77273	.|-0.2649	.|10	.|0.87932	.|D	.|0	-15.516|-15.516	13.539|13.539	0.61662|0.61662	0.0743:0.0:0.9257:0.0|0.0743:0.0:0.9257:0.0	.|.	.|707	.|O94806	.|KPCD3_HUMAN	X|I	99|707	.|ENSP00000368356:L707I;ENSP00000234179:L707I	.|ENSP00000234179:L707I	C|L	-|-	3|1	2|0	PRKD3|PRKD3	37340256|37340256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.678000|5.678000	0.68153|0.68153	2.544000|2.544000	0.85801|0.85801	0.585000|0.585000	0.79938|0.79938	TGC|CTT		0.358	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		T	37486752	G	T	37486752	3	4	277	1	0	0	0	0	1	0	0	0	12525	971	34	4	569	4	PRKD3	2	37486752	Missense_Mutation	SNP	G	TCGA-B8-5158-01A-01D-1421-08		37486752	205712621	11	16544											
RIF1	55183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152300220	152300220	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr2:152300220T>G	ENST00000243326.5	+	17	2466	c.1983T>G	c.(1981-1983)aaT>aaG	p.N661K	RIF1_ENST00000430328.2_Missense_Mutation_p.N661K|RIF1_ENST00000428287.2_Missense_Mutation_p.N661K|RIF1_ENST00000444746.2_Missense_Mutation_p.N661K|RIF1_ENST00000453091.2_Missense_Mutation_p.N661K			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.N661K(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTGATTAATCAGGTATGAA	0.303																																																1	Substitution - Missense(1)	kidney(1)											67	71	69					2																	152300220		2202	4300	6502	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1983T>G	2.37:g.152300220T>G	ENSP00000243326:p.Asn661Lys		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.56|12.56	1.976000|1.976000	0.34848|0.34848	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	D;D;D;D;D|.	0.98807|.	-5.15;-5.15;-5.15;-5.15;-5.15|.	5.34|5.34	2.89|2.89	0.33648|0.33648	.|.	0.095883|.	0.64402|.	D|.	0.000001|.	T|T	0.56411|0.56411	0.1983|0.1983	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;P|.	0.47762|.	0.565;0.9|.	B;B|.	0.42522|.	0.156;0.39|.	T|T	0.51803|0.51803	-0.8659|-0.8659	10|5	0.05721|.	T|.	0.95|.	-14.1098|-14.1098	4.9068|4.9068	0.13802|0.13802	0.0:0.4595:0.0:0.5405|0.0:0.4595:0.0:0.5405	.|.	661;661|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	K|A	661|653	ENSP00000390181:N661K;ENSP00000414615:N661K;ENSP00000415691:N661K;ENSP00000243326:N661K;ENSP00000416123:N661K|.	ENSP00000243326:N661K|.	N|S	+|+	3|1	2|0	RIF1|RIF1	152008466|152008466	0.944000|0.944000	0.32072|0.32072	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	-0.040000|-0.040000	0.12104|0.12104	0.824000|0.824000	0.34613|0.34613	0.377000|0.377000	0.23210|0.23210	AAT|TCA		0.303	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			G	152300220	T	G	152300220	3	3	277	1	0	0	0	0	1	0	0	0	13365	1432	50	5	2049	5	RIF1	2	152300220	Missense_Mutation	SNP	T	TCGA-B8-5158-01A-01D-1421-08	114813468	152300220	90899153	12	16545											
C2orf62	375307	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219232614	219232614	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr2:219232614T>G	ENST00000289388.3	+	10	1120	c.1091T>G	c.(1090-1092)tTg>tGg	p.L364W	C2orf62_ENST00000481940.1_3'UTR|AC021016.6_ENST00000441749.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		364					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L364W(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACCGGCCTTGGGCTCCTCC	0.731																																																1	Substitution - Missense(1)	kidney(1)											23	24	24					2																	219232614		2202	4294	6496	SO:0001583	missense	375307																														ENST00000289388.3:c.1091T>G	2.37:g.219232614T>G	ENSP00000289388:p.Leu364Trp			Missense_Mutation	SNP	ENST00000289388.3	37	CCDS2414.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043348	0.75732	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.71	4.71	0.59529	.	0.504604	0.17220	N	0.182345	T	0.60235	0.2253	L	0.54323	1.7	0.24838	N	0.992486	D	0.65815	0.995	P	0.60415	0.874	T	0.54754	-0.8246	9	0.59425	D	0.04	-4.6639	13.8528	0.63508	0.0:0.0:0.0:1.0	.	364	Q7Z7H3	CB062_HUMAN	W	364	.	ENSP00000289388:L364W	L	+	2	0	C2orf62	218940858	0.229000	0.23729	0.758000	0.31321	0.569000	0.35902	4.837000	0.62796	1.753000	0.51906	0.459000	0.35465	TTG		0.731	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			G	219232614	T	G	219232614	3	3	277	1	0	0	0	0	1	0	0	0	2183	1821	63	5	1129	5	C2orf62	2	219232614	Missense_Mutation	SNP	T	TCGA-B8-5158-01A-01D-1421-08	66932394	219232614	23966759	13	16546											
HDLBP	3069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	242179325	242179325	+	Silent	SNP	G	G	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr2:242179325G>A	ENST00000391975.1	-	18	2609	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	HDLBP_ENST00000391976.2_Silent_p.I794I|HDLBP_ENST00000310931.4_Silent_p.I794I|HDLBP_ENST00000427183.2_Silent_p.I761I	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	794	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.I794I(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCAGGTTTTGGATCAAGGCCT	0.582																																																1	Substitution - coding silent(1)	kidney(1)											75	75	75					2																	242179325		2203	4300	6503	SO:0001819	synonymous_variant	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2382C>T	2.37:g.242179325G>A			B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.930|6.930	0.541224|0.541224	0.13250|0.13250	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000427487	.|.	.|.	.|.	5.38|5.38	-4.96|-4.96	0.03038|0.03038	.|.	.|.	.|.	.|.	.|.	T|T	0.63462|0.63462	0.2513|0.2513	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64080|0.64080	-0.6491|-0.6491	4|4	.|.	.|.	.|.	-12.1993|-12.1993	15.1693|15.1693	0.72858|0.72858	0.5666:0.0:0.4334:0.0|0.5666:0.0:0.4334:0.0	.|.	.|.	.|.	.|.	S|F	603|196	.|.	.|.	P|S	-|-	1|2	0|0	HDLBP|HDLBP	241827998|241827998	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.592000|0.592000	0.36648|0.36648	0.758000|0.758000	0.26447|0.26447	-0.965000|-0.965000	0.03591|0.03591	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.582	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		A	242179325	G	A	242179325	2	1	277	1	0	0	0	0	0	0	0	1	7027	1164	41	2		2	HDLBP	2	242179325	Silent	SNP	G	TCGA-B8-5158-01A-01D-1421-08	22946711	242179325	1020048	14	16547											
PBRM1	55193	broad.mit.edu	37	3	52678806	52678806	+	Splice_Site	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr3:52678806C>T	ENST00000296302.7	-	8	815		c.e8-1		PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATTTGCATCCTGTCAAGATA	0.338			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Unknown(3)	kidney(3)											35	36	35					3																	52678806		2201	4296	6497	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.814-1G>A	3.37:g.52678806C>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.446384	0.84101	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.995	0.89181	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52653846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	2.683000	0.91414	0.563000	0.77884	.		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	T	52678806	C	T	52678806	5	4	277	1	0	0	0	0	0	0	1	0	11493	695	24	2	4179	2	PBRM1	3	52678806	Splice_Site	SNP	C	TCGA-B8-5158-01A-01D-1421-08		52678806	145343624	15	16548											
LRIG1	26018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	66502055	66502055	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr3:66502055T>C	ENST00000273261.3	-	3	817	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	LRIG1_ENST00000383703.3_Missense_Mutation_p.Y98C	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	98					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.Y98C(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATTATTGAGGTACCTGTAACA	0.428																																																1	Substitution - Missense(1)	kidney(1)											147	131	136					3																	66502055		2203	4300	6503	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.293A>G	3.37:g.66502055T>C	ENSP00000273261:p.Tyr98Cys		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676260	0.67928	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.58506	0.33;0.33	5.91	4.69	0.59074	.	0.370683	0.27677	N	0.018304	T	0.71719	0.3373	M	0.82823	2.61	0.37636	D	0.92187	P;P	0.51351	0.931;0.944	P;P	0.59115	0.77;0.852	T	0.75836	-0.3177	10	0.54805	T	0.06	.	8.6143	0.33822	0.2119:0.0:0.0:0.7881	.	98;98	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	C	98;98;25	ENSP00000273261:Y98C;ENSP00000373208:Y98C	ENSP00000273261:Y98C	Y	-	2	0	LRIG1	66584745	0.988000	0.35896	1.000000	0.80357	0.910000	0.53928	0.125000	0.15749	0.938000	0.37419	0.533000	0.62120	TAC		0.428	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		C	66502055	T	C	66502055	3	2	277	1	0	0	0	0	1	0	0	0	8946	1638	57	3	3056	3	LRIG1	3	66502055	Missense_Mutation	SNP	T	TCGA-B8-5158-01A-01D-1421-08	13823249	66502055	131520375	16	16549											
GTF2E1	2960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	120495384	120495384	+	Silent	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr3:120495384C>T	ENST00000283875.5	+	4	858	c.765C>T	c.(763-765)gtC>gtT	p.V255V		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	255					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.V255V(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AGAATGTTGTCATTAACATGG	0.502																																																1	Substitution - coding silent(1)	kidney(1)											103	97	99					3																	120495384		2203	4300	6503	SO:0001819	synonymous_variant	2960			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"General transcription factors"	4650	protein-coding gene	gene with protein product		189962	"general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.765C>T	3.37:g.120495384C>T			Q16103	Silent	SNP	ENST00000283875.5	37	CCDS3002.1																																																																																				0.502	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		T	120495384	C	T	120495384	2	4	277	1	0	0	0	0	0	0	0	1	6858	813	29	2		2	GTF2E1	3	120495384	Silent	SNP	C	TCGA-B8-5158-01A-01D-1421-08	53993329	120495384	77527046	17	16550											
NAF1	92345	broad.mit.edu;ucsc.edu	37	4	164050358	164050358	+	Silent	SNP	A	A	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr4:164050358A>G	ENST00000274054.2	-	8	1369	c.1176T>C	c.(1174-1176)ccT>ccC	p.P392P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	392					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P392P(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				AGAAATGCTGAGGTGGAGGCC	0.458																																																1	Substitution - coding silent(1)	kidney(1)											103	112	109					4																	164050358		2203	4300	6503	SO:0001819	synonymous_variant	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1176T>C	4.37:g.164050358A>G			D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	CCDS3803.1																																																																																				0.458	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		G	164050358	A	G	164050358	2	3	277	1	0	0	0	0	0	0	0	1	10142	291	11	3		3	NAF1	4	164050358	Silent	SNP	A	TCGA-B8-5158-01A-01D-1421-08		164050358	27103918	18	16551											
TRIM23	373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	64907630	64907630	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr5:64907630C>G	ENST00000231524.9	-	4	816	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	TRIM23_ENST00000274327.7_Missense_Mutation_p.E149Q|TRIM23_ENST00000381018.3_Missense_Mutation_p.E149Q|TRIM23_ENST00000508808.1_5'Flank	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	149					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E149Q(1)|p.E149K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TGAGAACACTCAGAGCACAAA	0.408																																																2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)											97	92	93					5																	64907630		2203	4300	6503	SO:0001583	missense	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.445G>C	5.37:g.64907630C>G	ENSP00000231524:p.Glu149Gln		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055636	0.75960	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.45276	0.9;0.9;0.9	5.37	5.37	0.77165	Zinc finger, B-box (3);Zinc finger, C2H2 (1);	0.160378	0.56097	D	0.000028	T	0.42314	0.1197	L	0.36672	1.1	0.51482	D	0.99992	B;B;B	0.26258	0.099;0.145;0.018	B;B;B	0.33620	0.167;0.099;0.043	T	0.31613	-0.9937	10	0.52906	T	0.07	.	19.4688	0.94954	0.0:1.0:0.0:0.0	.	149;149;149	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	Q	149	ENSP00000231524:E149Q;ENSP00000370406:E149Q;ENSP00000274327:E149Q	ENSP00000231524:E149Q	E	-	1	0	TRIM23	64943386	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.714000	0.68422	2.659000	0.90383	0.655000	0.94253	GAG		0.408	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		G	64907630	C	G	64907630	3	3	277	1	0	0	0	0	1	0	0	0	16502	835	29	4	1378	4	TRIM23	5	64907630	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08		64907630	116007630	19	16552											
PCDHB13	56123	broad.mit.edu;hgsc.bcm.edu	37	5	140594137	140594137	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr5:140594137C>T	ENST00000341948.4	+	1	629	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	148	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P148S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGAGCAGTCCTCCTGGGAC	0.418																																																1	Substitution - Missense(1)	kidney(1)											68	70	69					5																	140594137		2203	4300	6503	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.442C>T	5.37:g.140594137C>T	ENSP00000345491:p.Pro148Ser		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.525321	0.27299	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.54279	0.58	3.71	-7.42	0.01388	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.32971	0.0847	L	0.45285	1.41	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.15350	-1.0440	9	0.31617	T	0.26	.	1.8563	0.03179	0.1614:0.235:0.3684:0.2352	.	148	Q9Y5F0	PCDBD_HUMAN	S	148	ENSP00000345491:P148S	ENSP00000345491:P148S	P	+	1	0	PCDHB13	140574321	0.000000	0.05858	0.000000	0.03702	0.703000	0.40648	-7.249000	0.00040	-2.381000	0.00594	-0.339000	0.08088	CCT		0.418	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140594137	C	T	140594137	3	4	277	1	0	0	0	0	1	0	0	0	11540	855	30	2	444	2	PCDHB13	5	140594137	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08	75686507	140594137	40321123	20	16553											
CAGE1	285782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7373597	7373597	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr6:7373597C>A	ENST00000512086.1	-	5	1657	c.1455G>T	c.(1453-1455)ttG>ttT	p.L485F	CAGE1_ENST00000338150.4_Missense_Mutation_p.L485F|CAGE1_ENST00000379918.4_Missense_Mutation_p.L485F|CAGE1_ENST00000502583.1_Missense_Mutation_p.L485F|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000296742.7_Missense_Mutation_p.L349F			Q8TC20	CAGE1_HUMAN	cancer antigen 1	485								p.L485F(2)|p.L349F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CCTGTAAAGACAAGAACTCTT	0.388																																																3	Substitution - Missense(3)	kidney(3)											59	51	53					6																	7373597		1803	4073	5876	SO:0001583	missense	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1455G>T	6.37:g.7373597C>A	ENSP00000427583:p.Leu485Phe		D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37		.	.	.	.	.	.	.	.	.	.	C	17.13	3.312121	0.60414	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	4.75	1.92	0.25849	.	0.311276	0.23380	N	0.048819	T	0.44932	0.1317	M	0.61703	1.905	0.29736	N	0.837514	D;B;P	0.89917	1.0;0.385;0.559	D;B;B	0.91635	0.999;0.161;0.264	T	0.33954	-0.9848	10	0.59425	D	0.04	-1.904	5.3273	0.15913	0.0:0.6418:0.1679:0.1903	.	485;485;485	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	F	485;485;485;349;485;485;485;497	ENSP00000369250:L485F;ENSP00000425493:L485F;ENSP00000296742:L349F;ENSP00000427583:L485F;ENSP00000338107:L485F;ENSP00000423789:L497F	ENSP00000296742:L349F	L	-	3	2	CAGE1	7318596	0.994000	0.37717	0.999000	0.59377	0.991000	0.79684	0.433000	0.21477	0.264000	0.21851	0.591000	0.81541	TTG		0.388	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		A	7373597	C	A	7373597	3	1	277	1	0	0	0	0	1	0	0	0	2574	477	17	4	1210	4	CAGE1	6	7373597	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08		7373597	163741470	21	16554											
HIST1H2AM	8336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27860781	27860781	+	Silent	SNP	C	C	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr6:27860781C>G	ENST00000359611.2	-	1	182	c.147G>C	c.(145-147)ccG>ccC	p.P49P	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	49						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.P49P(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CCAGGTAAACCGGCGCGCCGG	0.657																																																1	Substitution - coding silent(1)	kidney(1)											47	55	53					6																	27860781		2203	4299	6502	SO:0001819	synonymous_variant	8336			X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"Histones / Replication-dependent"	4735	protein-coding gene	gene with protein product		602796	"H2A histone family, member N", "histone 1, H2am"	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.147G>C	6.37:g.27860781C>G			P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359611.2	37	CCDS4639.1																																																																																				0.657	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		G	27860781	C	G	27860781	2	3	277	1	0	0	0	0	0	0	0	1	7141	639	23	4		4	HIST1H2AM	6	27860781	Silent	SNP	C	TCGA-B8-5158-01A-01D-1421-08	20487184	27860781	143254286	22	16555											
OR2H2	7932	hgsc.bcm.edu	37	6	29555969	29555969	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr6:29555969delT	ENST00000383640.2	+	1	287	c.248delT	c.(247-249)ctcfs	p.L83fs	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	83					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CTGGTCAACCTCTGGGGCCCA	0.522																																																0													130	121	124					6																	29555969		1511	2709	4220	SO:0001589	frameshift_variant	7932				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"GPCR / Class A : Olfactory receptors"	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.248delT	6.37:g.29555969delT	ENSP00000373136:p.Leu83fs		Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Frame_Shift_Del	DEL	ENST00000383640.2	37	CCDS34365.1																																																																																				0.522	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			-	29555969	T	-	29555969	7	5	277	1	0	1	0	1	0	0	0	0	11004	1551	54	0	250	0	OR2H2	6	29555969	Frame_Shift_Del	DEL	T	TCGA-B8-5158-01A-01D-1421-08	1695188	29555969	141559098	23	16556											
RNF216	54476	broad.mit.edu	37	7	5752486	5752486	+	Silent	SNP	G	G	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:5752486G>T	ENST00000425013.2	-	12	1895	c.1671C>A	c.(1669-1671)ctC>ctA	p.L557L	RNF216_ENST00000389902.3_Silent_p.L614L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	557					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L614L(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCATGCAGCTGAGCTCCAACT	0.438																																																1	Substitution - coding silent(1)	kidney(1)											34	33	33					7																	5752486		2203	4300	6503	SO:0001819	synonymous_variant	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1671C>A	7.37:g.5752486G>T			Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	CCDS34595.1																																																																																				0.438	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		T	5752486	G	T	5752486	2	4	277	1	0	0	0	0	0	0	0	1	13486	1277	45	4		4	RNF216	7	5752486	Silent	SNP	G	TCGA-B8-5158-01A-01D-1421-08		5752486	153386177	24	16557											
CCDC129	223075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	31682989	31682989	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:31682989A>G	ENST00000407970.3	+	11	2043	c.2005A>G	c.(2005-2007)Aaa>Gaa	p.K669E	CCDC129_ENST00000409210.1_Missense_Mutation_p.K577E|CCDC129_ENST00000451887.2_Missense_Mutation_p.K695E|CCDC129_ENST00000319386.3_Missense_Mutation_p.K521E	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	669								p.K521E(1)|p.K669E(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCACCTCCATAAACTGCCTGG	0.473																																																2	Substitution - Missense(2)	kidney(2)											86	81	83					7																	31682989		2203	4300	6503	SO:0001583	missense	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2005A>G	7.37:g.31682989A>G	ENSP00000384416:p.Lys669Glu		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265337	0.40095	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.19394	2.15;2.42;2.42;2.17	5.8	-6.46	0.01908	.	1.594740	0.03149	N	0.167669	T	0.18130	0.0435	L	0.59436	1.845	0.09310	N	1	B;B;B;B	0.17038	0.02;0.02;0.02;0.005	B;B;B;B	0.15484	0.013;0.013;0.013;0.013	T	0.28776	-1.0033	10	0.30854	T	0.27	-2.465	5.6557	0.17640	0.2063:0.1298:0.5372:0.1266	.	695;679;669;521	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	E	521;669;695;679;577	ENSP00000313062:K521E;ENSP00000384416:K669E;ENSP00000395835:K695E;ENSP00000387214:K577E	ENSP00000313062:K521E	K	+	1	0	CCDC129	31649514	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.307000	0.08167	-0.735000	0.04837	0.533000	0.62120	AAA		0.473	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		G	31682989	A	G	31682989	3	3	277	1	0	0	0	0	1	0	0	0	2766	363	13	3	2043	3	CCDC129	7	31682989	Missense_Mutation	SNP	A	TCGA-B8-5158-01A-01D-1421-08	25930503	31682989	127455674	25	16558											
ZMIZ2	83637	broad.mit.edu	37	7	44801378	44801378	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:44801378C>G	ENST00000309315.4	+	11	1593	c.1470C>G	c.(1468-1470)agC>agG	p.S490R	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S490R|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S432R|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S458R|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S464R	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	490	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.S490R(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCAGGTCAGCGTCAATGCCA	0.607																																					NSCLC(20;604 852 1948 16908 50522)											1	Substitution - Missense(1)	kidney(1)											80	81	81					7																	44801378		2203	4300	6503	SO:0001583	missense	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1470C>G	7.37:g.44801378C>G	ENSP00000311778:p.Ser490Arg		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519237	0.85495	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	4.73	3.82	0.43975	.	0.000000	0.64402	D	0.000001	T	0.60340	0.2261	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.992;0.98;0.995	T	0.60581	-0.7235	10	0.45353	T	0.12	-17.4912	10.8008	0.46487	0.0:0.8476:0.0:0.1524	.	464;490;432	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	R	432;490;490;458;464;490	ENSP00000409648:S432R;ENSP00000311778:S490R;ENSP00000414723:S490R;ENSP00000396601:S458R;ENSP00000265346:S464R	ENSP00000265346:S464R	S	+	3	2	ZMIZ2	44767903	0.987000	0.35691	1.000000	0.80357	0.989000	0.77384	0.276000	0.18716	2.444000	0.82710	0.655000	0.94253	AGC		0.607	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		G	44801378	C	G	44801378	3	3	277	1	0	0	0	0	1	0	0	0	17702	767	27	4	1508	4	ZMIZ2	7	44801378	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08	13118389	44801378	114337285	26	16559											
CFTR	1080	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117199625	117199625	+	Silent	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:117199625C>A	ENST00000003084.6	+	11	1632	c.1500C>A	c.(1498-1500)ggC>ggA	p.G500G	CFTR_ENST00000454343.1_Silent_p.G439G|AC000111.3_ENST00000441019.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	500	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.G500G(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TTATGCCTGGCACCATTAAAG	0.378									Cystic Fibrosis																																							1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1500C>A	7.37:g.117199625C>A			Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																				0.378	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		A	117199625	C	A	117199625	2	1	277	1	0	0	0	0	0	0	0	1	3296	697	25	4		4	CFTR	7	117199625	Silent	SNP	C	TCGA-B8-5158-01A-01D-1421-08	72398247	117199625	41939038	27	16560											
ZNF398	57541	broad.mit.edu	37	7	148876816	148876816	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:148876816T>A	ENST00000475153.1	+	6	2119	c.1852T>A	c.(1852-1854)Tct>Act	p.S618T	ZNF398_ENST00000491174.1_Missense_Mutation_p.S447T|ZNF398_ENST00000483892.1_Missense_Mutation_p.S447T|ZNF398_ENST00000540950.1_Missense_Mutation_p.S623T|ZNF398_ENST00000335901.4_Missense_Mutation_p.S447T|ZNF398_ENST00000426851.2_Missense_Mutation_p.S447T|ZNF398_ENST00000420008.2_Missense_Mutation_p.S447T			Q8TD17	ZN398_HUMAN	zinc finger protein 398	618					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S618T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCTTGAAACTTCTGGCCTGGG	0.552																																																1	Substitution - Missense(1)	kidney(1)											52	58	56					7																	148876816		2203	4300	6503	SO:0001583	missense	57541			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1852T>A	7.37:g.148876816T>A	ENSP00000420418:p.Ser618Thr		A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.320543	0.23994	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.06687	3.27;3.27;3.36;3.27;3.27;3.37;3.27	4.69	-1.11	0.09840	.	0.284575	0.25660	N	0.029159	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.33929	-0.9849	10	0.62326	D	0.03	-4.3425	0.545	0.00652	0.1792:0.1978:0.1642:0.4587	.	623;618	B4DXA9;Q8TD17	.;ZN398_HUMAN	T	447;447;618;447;447;623;447	ENSP00000389972:S447T;ENSP00000416751:S447T;ENSP00000420418:S618T;ENSP00000418564:S447T;ENSP00000419391:S447T;ENSP00000439340:S623T;ENSP00000338984:S447T	ENSP00000338984:S447T	S	+	1	0	ZNF398	148507749	0.000000	0.05858	0.874000	0.34290	0.903000	0.53119	-0.465000	0.06680	0.008000	0.14787	0.529000	0.55759	TCT		0.552	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			A	148876816	T	A	148876816	3	1	277	1	0	0	0	0	1	0	0	0	17890	1783	62	5	1874	5	ZNF398	7	148876816	Missense_Mutation	SNP	T	TCGA-B8-5158-01A-01D-1421-08	31677191	148876816	10261847	28	16561											
AGAP3	116988	broad.mit.edu;hgsc.bcm.edu	37	7	150784022	150784022	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:150784022A>C	ENST00000397238.2	+	1	194	c.194A>C	c.(193-195)aAc>aCc	p.N65T	AGAP3_ENST00000479901.1_Missense_Mutation_p.N65T|AGAP3_ENST00000473312.1_Missense_Mutation_p.N65T|AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	29					cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.N65T(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCGCTCTCCAACTCCGCGGCC	0.731																																																2	Substitution - Missense(2)	kidney(2)											21	25	24					7																	150784022		2134	4291	6425	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.194A>C	7.37:g.150784022A>C	ENSP00000380413:p.Asn65Thr		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000397238.2	37	CCDS43681.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348526	0.61183	.	.	ENSG00000133612	ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355	D;D;T	0.88741	-2.25;-2.42;-0.52	2.42	2.42	0.29668	.	0.000000	0.52532	U	0.000067	D	0.82815	0.5119	L	0.43152	1.355	0.80722	D	1	P;P;P	0.45176	0.852;0.728;0.533	B;B;B	0.40285	0.243;0.325;0.205	T	0.82010	-0.0669	10	0.72032	D	0.01	.	8.329	0.32175	1.0:0.0:0.0:0.0	.	65;65;65	C9J975;Q96P47-4;E9PAL8	.;.;.	T	65;65;65;29	ENSP00000418921:N65T;ENSP00000418125:N65T;ENSP00000380413:N65T	ENSP00000334157:N29T	N	+	2	0	AGAP3	150414955	1.000000	0.71417	0.818000	0.32626	0.891000	0.51852	5.990000	0.70595	1.094000	0.41399	0.155000	0.16302	AAC		0.731	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946		C	150784022	A	C	150784022	3	2	277	1	0	0	0	0	1	0	0	0	369	43	2	5	196	5	AGAP3	7	150784022	Missense_Mutation	SNP	A	TCGA-B8-5158-01A-01D-1421-08	1907206	150784022	8354641	29	16562											
CHPF2	54480	hgsc.bcm.edu	37	7	150934826	150934827	+	Frame_Shift_Ins	INS	-	-	G	rs144589067	byFrequency	TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:150934826_150934827insG	ENST00000035307.2	+	4	2891_2892	c.1378_1379insG	c.(1378-1380)cggfs	p.R460fs	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Frame_Shift_Ins_p.R452fs|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	460					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGGGCACCGGCGGGCCCTGGCT	0.653																																																0																																										SO:0001589	frameshift_variant	54480			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1381dupG	7.37:g.150934829_150934829dupG	ENSP00000035307:p.Arg460fs		B2DBD8|Q6P2I4|Q6UXD2	Frame_Shift_Ins	INS	ENST00000035307.2	37	CCDS34779.1																																																																																				0.653	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		G	150934827	-	G	150934826	7	5	277	1	0	1	1	0	0	0	0	0	3371	759	27	0	1392	0	CHPF2	7	150934826	Frame_Shift_Ins	INS	-	TCGA-B8-5158-01A-01D-1421-08	150804	150934826	8203837	30	16563											
CNTNAP3	79937	broad.mit.edu	37	9	39085772	39085772	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr9:39085772A>C	ENST00000297668.6	-	21	3476	c.3403T>G	c.(3403-3405)Ttc>Gtc	p.F1135V	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.F1054V|CNTNAP3_ENST00000358144.2_3'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1135	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F1135V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACGGCGTTGAATTCTGTCCCT	0.388																																																1	Substitution - Missense(1)	kidney(1)											71	91	84					9																	39085772		2172	4243	6415	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3403T>G	9.37:g.39085772A>C	ENSP00000297668:p.Phe1135Val		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575084	0.65878	.	.	ENSG00000106714	ENST00000297668;ENST00000377656	T;T	0.77489	-1.1;-1.1	3.28	3.28	0.37604	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.84506	0.5487	M	0.87827	2.91	0.80722	D	1	D;B	0.53312	0.959;0.368	P;B	0.53062	0.717;0.292	D	0.86760	0.1966	9	0.72032	D	0.01	.	10.912	0.47114	1.0:0.0:0.0:0.0	.	1054;1135	A6NC89;Q9BZ76	.;CNTP3_HUMAN	V	1135;1054	ENSP00000297668:F1135V;ENSP00000366884:F1054V	ENSP00000297668:F1135V	F	-	1	0	CNTNAP3	39075772	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.849000	0.75414	1.495000	0.48549	0.397000	0.26171	TTC		0.388	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		C	39085772	A	C	39085772	3	2	277	1	0	0	0	0	1	0	0	0	3650	101	4	5	479	5	CNTNAP3	9	39085772	Missense_Mutation	SNP	A	TCGA-B8-5158-01A-01D-1421-08		39085772	102127659	31	16564											
LAMC3	10319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133911635	133911635	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr9:133911635G>C	ENST00000361069.4	+	4	1025	c.892G>C	c.(892-894)Ggc>Cgc	p.G298R	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	298	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.G298R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAACACCACCGGCACAGACTG	0.677																																																1	Substitution - Missense(1)	kidney(1)											33	36	35					9																	133911635		2198	4297	6495	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.892G>C	9.37:g.133911635G>C	ENSP00000354360:p.Gly298Arg		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651399	0.67472	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	D	0.91945	-2.94	5.06	5.06	0.68205	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.99634	4.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99867	1.1091	10	0.87932	D	0	.	17.3931	0.87437	0.0:0.0:1.0:0.0	.	298	Q9Y6N6	LAMC3_HUMAN	R	298	ENSP00000354360:G298R	ENSP00000325873:G298R	G	+	1	0	LAMC3	132901456	1.000000	0.71417	0.079000	0.20413	0.147000	0.21601	7.690000	0.84178	2.334000	0.79466	0.462000	0.41574	GGC		0.677	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		C	133911635	G	C	133911635	3	2	277	1	0	0	0	0	1	0	0	0	8618	1116	39	4	906	4	LAMC3	9	133911635	Missense_Mutation	SNP	G	TCGA-B8-5158-01A-01D-1421-08	94825863	133911635	7301796	32	16565											
GRIN1	2902	broad.mit.edu	37	9	140040311	140040311	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr9:140040311C>T	ENST00000371561.3	+	3	1624	c.527C>T	c.(526-528)gCt>gTt	p.A176V	GRIN1_ENST00000371559.4_Missense_Mutation_p.A176V|GRIN1_ENST00000371550.4_Missense_Mutation_p.A176V|GRIN1_ENST00000315048.3_Missense_Mutation_p.A176V|GRIN1_ENST00000371560.3_Missense_Mutation_p.A176V|GRIN1_ENST00000371555.4_Missense_Mutation_p.A176V|GRIN1_ENST00000350902.5_Missense_Mutation_p.A176V|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.A176V|GRIN1_ENST00000371553.3_Missense_Mutation_p.A176V	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	176					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)	p.A176V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCCGGGCGGCTCAGAAACGC	0.677																																					NSCLC(113;717 1653 2089 20474 37618)											1	Substitution - Missense(1)	kidney(1)											40	28	32					9																	140040311		2202	4298	6500	SO:0001583	missense	2902				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.527C>T	9.37:g.140040311C>T	ENSP00000360616:p.Ala176Val		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	C	6.779	0.512739	0.12944	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	3.33	3.33	0.38152	Extracellular ligand-binding receptor (1);	0.000000	0.85682	U	0.000000	T	0.50820	0.1638	N	0.04203	-0.255	0.58432	D	0.999995	B;B;P;P;P;B	0.39391	0.094;0.009;0.62;0.62;0.671;0.141	B;B;B;B;B;B	0.22386	0.032;0.017;0.023;0.023;0.039;0.021	T	0.60255	-0.7299	10	0.07644	T	0.81	.	13.3549	0.60623	0.0:1.0:0.0:0.0	.	176;176;176;176;176;176	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	V	176	ENSP00000360616:A176V;ENSP00000316696:A176V;ENSP00000316915:A176V;ENSP00000360605:A176V;ENSP00000360601:A176V;ENSP00000360610:A176V;ENSP00000360608:A176V;ENSP00000360614:A176V;ENSP00000360615:A176V	ENSP00000316696:A176V	A	+	2	0	GRIN1	139160132	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.073000	0.76784	1.696000	0.51158	0.313000	0.20887	GCT		0.677	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		T	140040311	C	T	140040311	3	4	277	1	0	0	0	0	1	0	0	0	6780	797	28	2	537	2	GRIN1	9	140040311	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08	6128676	140040311	1173120	33	16566											
DIP2C	22982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	375466	375466	+	Silent	SNP	G	G	C	rs367686379		TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr10:375466G>C	ENST00000280886.6	-	30	3747	c.3660C>G	c.(3658-3660)gcC>gcG	p.A1220A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1220						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A1220A(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACTGACTCACGGCAAGAAGCC	0.562																																																1	Substitution - coding silent(1)	kidney(1)											60	52	55					10																	375466		2203	4300	6503	SO:0001819	synonymous_variant	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3660C>G	10.37:g.375466G>C			B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	3.009	-0.204321	0.06180	.	.	ENSG00000151240	ENST00000434695	.	.	.	5.84	-4.66	0.03329	.	.	.	.	.	T	0.63177	0.2489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62378	-0.6867	4	.	.	.	-28.521	14.5995	0.68429	0.524:0.0:0.476:0.0	.	.	.	.	G	26	.	.	R	-	1	0	DIP2C	365466	0.855000	0.29742	0.502000	0.27614	0.075000	0.17131	0.043000	0.13971	-1.173000	0.02758	-0.781000	0.03364	CGT		0.562	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		C	375466	G	C	375466	2	2	277	1	0	0	0	0	0	0	0	1	4531	1103	39	4		4	DIP2C	10	375466	Silent	SNP	G	TCGA-B8-5158-01A-01D-1421-08		375466	135159281	34	16567											
NMT2	9397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	15154856	15154856	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr10:15154856T>C	ENST00000378165.4	-	10	1357	c.1277A>G	c.(1276-1278)aAc>aGc	p.N426S	NMT2_ENST00000540259.1_Missense_Mutation_p.N238S|NMT2_ENST00000378150.1_Missense_Mutation_p.N413S|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.N413S	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	426					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.N426S(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TGTGTGGATGTTGTAGAATGA	0.547																																					Melanoma(117;1345 1645 4130 12688 30625)											1	Substitution - Missense(1)	kidney(1)											194	189	191					10																	15154856		2203	4300	6503	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1277A>G	10.37:g.15154856T>C	ENSP00000367407:p.Asn426Ser		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.326188	0.60743	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.44482	0.92	5.69	5.69	0.88448	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.043191	0.85682	D	0.000000	T	0.50582	0.1624	M	0.86651	2.83	0.80722	D	1	P;P;P	0.41929	0.637;0.765;0.637	B;B;B	0.37267	0.245;0.206;0.245	T	0.62534	-0.6834	10	0.66056	D	0.02	-35.6656	15.9506	0.79830	0.0:0.0:0.0:1.0	.	426;413;426	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	S	426;413;457;238;413	ENSP00000367407:N426S	ENSP00000367385:N457S	N	-	2	0	NMT2	15194862	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.019000	0.64060	2.166000	0.68216	0.533000	0.62120	AAC		0.547	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		C	15154856	T	C	15154856	3	2	277	1	0	0	0	0	1	0	0	0	10506	1725	60	3	231	3	NMT2	10	15154856	Missense_Mutation	SNP	T	TCGA-B8-5158-01A-01D-1421-08	14779390	15154856	120379891	35	16568											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	10	89717762	89717762	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr10:89717762A>T	ENST00000371953.3	+	7	2144	c.787A>T	c.(787-789)Aag>Tag	p.K263*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	263	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.K263*(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAACAGAACAAGATGCTAAA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	52	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Nonsense(3)|Deletion - In frame(1)|Complex - deletion inframe(1)|Unknown(1)	prostate(16)|central_nervous_system(11)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)|kidney(1)											97	88	91					10																	89717762		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.787A>T	10.37:g.89717762A>T	ENSP00000361021:p.Lys263*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	49	15.476535	0.99835	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	5.15	0.70609	.	0.093551	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1303	14.9657	0.71193	1.0:0.0:0.0:0.0	.	.	.	.	X	263	.	.	K	+	1	0	PTEN	89707742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.918000	0.92759	1.928000	0.55862	0.477000	0.44152	AAG		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89717762	A	T	89717762	4	4	277	1	0	0	0	0	0	1	0	0	12743	131	5	5	813	5	PTEN	10	89717762	Nonsense_Mutation	SNP	A	TCGA-B8-5158-01A-01D-1421-08	74562906	89717762	45816985	36	16569											
B4GALNT4	338707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	372684	372684	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr11:372684T>C	ENST00000329962.6	+	3	278	c.278T>C	c.(277-279)aTg>aCg	p.M93T		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	93					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.M93T(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACCTAGACATGCTGTTTCCT	0.612																																																1	Substitution - Missense(1)	kidney(1)											20	23	22					11																	372684		2193	4283	6476	SO:0001583	missense	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.278T>C	11.37:g.372684T>C	ENSP00000328277:p.Met93Thr		Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	T	1.753	-0.488644	0.04352	.	.	ENSG00000182272	ENST00000329962	T	0.04360	3.64	3.17	-4.78	0.03209	.	1.811310	0.02866	N	0.130865	T	0.04048	0.0113	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41448	-0.9508	10	0.16420	T	0.52	-6.9736	2.719	0.05195	0.1308:0.4152:0.1327:0.3213	.	93	Q76KP1	B4GN4_HUMAN	T	93	ENSP00000328277:M93T	ENSP00000328277:M93T	M	+	2	0	B4GALNT4	362684	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.431000	0.06965	-0.816000	0.04340	0.391000	0.25812	ATG		0.612	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		C	372684	T	C	372684	3	2	277	1	0	0	0	0	1	0	0	0	1269	1464	51	3	288	3	B4GALNT4	11	372684	Missense_Mutation	SNP	T	TCGA-B8-5158-01A-01D-1421-08		372684	134633832	37	16570											
VPS11	55823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118940211	118940211	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr11:118940211C>G	ENST00000300793.6	+	4	435	c.393C>G	c.(391-393)ttC>ttG	p.F131L	VPS11_ENST00000527798.1_3'UTR|RP11-110I1.13_ENST00000607709.1_RNA	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	132					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.F131L(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CTCGAATCTTCCCTGCTATTC	0.453																																																1	Substitution - Missense(1)	kidney(1)											88	85	86					11																	118940211		1902	4134	6036	SO:0001583	missense	55823			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.393C>G	11.37:g.118940211C>G	ENSP00000475301:p.Phe131Leu		Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37																																																																																					0.453	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		G	118940211	C	G	118940211	3	3	277	1	0	0	0	0	1	0	0	0	17193	854	30	4	405	4	VPS11	11	118940211	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08	118567527	118940211	16066305	38	16571											
TSPAN31	6302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58140428	58140428	+	Silent	SNP	G	G	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr12:58140428G>C	ENST00000257910.3	+	4	643	c.369G>C	c.(367-369)ctG>ctC	p.L123L	TSPAN31_ENST00000547992.1_Intron|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547472.1_Silent_p.L40L|CDK4_ENST00000551888.1_5'Flank	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	123					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.L123L(1)		endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GGGATGAACTGGAAAGAAGTT	0.448																																																1	Substitution - coding silent(1)	kidney(1)											141	131	134					12																	58140428		2203	4300	6503	SO:0001819	synonymous_variant	6302				CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"Tetraspanins"	10539	protein-coding gene	gene with protein product		181035	"sarcoma amplified sequence"	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.369G>C	12.37:g.58140428G>C			O00577|Q53X76	Silent	SNP	ENST00000257910.3	37	CCDS8952.1																																																																																				0.448	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			C	58140428	G	C	58140428	2	2	277	1	0	0	0	0	0	0	0	1	16651	1335	47	4		4	TSPAN31	12	58140428	Silent	SNP	G	TCGA-B8-5158-01A-01D-1421-08		58140428	75711467	39	16572											
CDK8	1024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26974672	26974672	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr13:26974672C>T	ENST00000381527.3	+	10	1519	c.1016C>T	c.(1015-1017)cCa>cTa	p.P339L	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	339					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.P339L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTAGAAGACCCACTTCCTACA	0.433																																																1	Substitution - Missense(1)	kidney(1)											160	148	152					13																	26974672		2203	4300	6503	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1016C>T	13.37:g.26974672C>T	ENSP00000370938:p.Pro339Leu		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104572	0.94245	.	.	ENSG00000132964	ENST00000381527	T	0.41758	0.99	5.8	5.8	0.92144	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.974	T	0.71705	-0.4512	10	0.87932	D	0	-9.6043	20.0479	0.97616	0.0:1.0:0.0:0.0	.	339;339	P49336-2;P49336	.;CDK8_HUMAN	L	339	ENSP00000370938:P339L	ENSP00000370938:P339L	P	+	2	0	CDK8	25872672	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.440000	0.80464	2.750000	0.94351	0.650000	0.86243	CCA		0.433	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			T	26974672	C	T	26974672	3	4	277	1	0	0	0	0	1	0	0	0	3152	594	21	2	1054	2	CDK8	13	26974672	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08		26974672	88195206	40	16573											
BIVM	54841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	103474191	103474191	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr13:103474191T>C	ENST00000257336.1	+	6	1479	c.800T>C	c.(799-801)cTt>cCt	p.L267P	BIVM-ERCC5_ENST00000602836.1_Silent_p.T238T|BIVM_ENST00000448849.2_Missense_Mutation_p.L38P|RNY5P8_ENST00000410369.1_RNA|BIVM_ENST00000419638.1_Missense_Mutation_p.L267P	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	267						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.L267P(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AATACAACACTTATGAGGTAT	0.383																																																1	Substitution - Missense(1)	kidney(1)											93	91	92					13																	103474191		2203	4300	6503	SO:0001583	missense	54841			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.800T>C	13.37:g.103474191T>C	ENSP00000257336:p.Leu267Pro		Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417719	0.83449	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000419638;ENST00000418659	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.77745	0.4176	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80379	-0.1407	9	0.87932	D	0	.	15.7373	0.77856	0.0:0.0:0.0:1.0	.	38;238;267	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	P	267;38;267;238	.	ENSP00000257336:L267P	L	+	2	0	ERCC5;BIVM	102272192	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.623000	0.83113	2.184000	0.69523	0.454000	0.30748	CTT		0.383	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			C	103474191	T	C	103474191	3	2	277	1	0	0	0	0	1	0	0	0	1441	1609	56	3	814	3	BIVM	13	103474191	Missense_Mutation	SNP	T	TCGA-B8-5158-01A-01D-1421-08	76499519	103474191	11695687	41	16574	129	2									
BIVM	54841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	103474193	103474193	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr13:103474193A>T	ENST00000257336.1	+	6	1481	c.802A>T	c.(802-804)Atg>Ttg	p.M268L	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.Y239F|BIVM_ENST00000448849.2_Missense_Mutation_p.M39L|RNY5P8_ENST00000410369.1_RNA|BIVM_ENST00000419638.1_Missense_Mutation_p.M268L	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	268						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.M268L(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TACAACACTTATGAGGTATGA	0.388																																																1	Substitution - Missense(1)	kidney(1)											90	88	88					13																	103474193		2203	4300	6503	SO:0001583	missense	54841			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.802A>T	13.37:g.103474193A>T	ENSP00000257336:p.Met268Leu		Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571927	0.86542	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000419638;ENST00000418659	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.76126	0.3944	M	0.61703	1.905	0.46458	D	0.999058	D;D;P	0.64830	0.977;0.994;0.91	D;D;D	0.70716	0.965;0.97;0.909	T	0.77175	-0.2684	9	0.51188	T	0.08	.	15.7373	0.77856	1.0:0.0:0.0:0.0	.	39;239;268	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	L	268;39;268;239	.	ENSP00000257336:M268L	M	+	1	0	ERCC5;BIVM	102272194	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.871000	0.92346	2.184000	0.69523	0.454000	0.30748	ATG		0.388	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			T	103474193	A	T	103474193	3	4	277	1	0	0	0	0	1	0	0	0	1441	449	16	5	816	5	BIVM	13	103474193	Missense_Mutation	SNP	A	TCGA-B8-5158-01A-01D-1421-08	2	103474193	11695685	42	16575	129	2									
SALL2	6297	broad.mit.edu	37	14	21992408	21992408	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr14:21992408C>A	ENST00000327430.3	-	2	1748	c.1454G>T	c.(1453-1455)aGt>aTt	p.S485I	SALL2_ENST00000450879.2_Missense_Mutation_p.S348I|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S485I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTCTGTGGCACTGAGTGCTGT	0.587																																																1	Substitution - Missense(1)	kidney(1)											37	34	35					14																	21992408		2203	4300	6503	SO:0001583	missense	6297			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1454G>T	14.37:g.21992408C>A	ENSP00000333537:p.Ser485Ile		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.449|8.449	0.852696|0.852696	0.17106|0.17106	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879;ENST00000541876|ENST00000546363	T;T|.	0.04083|.	3.81;3.71|.	4.6|4.6	3.67|3.67	0.42095|0.42095	.|.	0.162978|.	0.29212|.	N|.	0.012816|.	T|T	0.40247|0.40247	0.1109|0.1109	L|L	0.29908|0.29908	0.895|0.895	0.33370|0.33370	D|D	0.573403|0.573403	P;P;P|.	0.40476|.	0.718;0.718;0.578|.	B;B;B|.	0.34242|.	0.128;0.178;0.088|.	T|T	0.48433|0.48433	-0.9036|-0.9036	10|5	0.16420|.	T|.	0.52|.	-21.0715|-21.0715	9.7356|9.7356	0.40386|0.40386	0.0:0.7703:0.2297:0.0|0.0:0.7703:0.2297:0.0	.|.	348;348;485|.	B4DK65;E7EW59;Q9Y467|.	.;.;SALL2_HUMAN|.	I|L	485;348;485|344	ENSP00000333537:S485I;ENSP00000396773:S348I|.	ENSP00000333537:S485I|.	S|V	-|-	2|1	0|0	SALL2|SALL2	21062248|21062248	0.973000|0.973000	0.33851|0.33851	0.998000|0.998000	0.56505|0.56505	0.783000|0.783000	0.44284|0.44284	0.258000|0.258000	0.18387|0.18387	2.385000|2.385000	0.81259|0.81259	0.563000|0.563000	0.77884|0.77884	AGT|GTG		0.587	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		A	21992408	C	A	21992408	3	1	277	1	0	0	0	0	1	0	0	0	13817	565	20	4	1573	4	SALL2	14	21992408	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08		21992408	85357132	43	16576											
FSCB	84075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	44975274	44975274	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr14:44975274G>T	ENST00000340446.4	-	1	1208	c.917C>A	c.(916-918)gCc>gAc	p.A306D	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	306						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.A306D(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AACTGCAGTGGCTGCCTCAGC	0.517																																																1	Substitution - Missense(1)	kidney(1)											48	49	49					14																	44975274		2203	4300	6503	SO:0001583	missense	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.917C>A	14.37:g.44975274G>T	ENSP00000344579:p.Ala306Asp		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994830	0.35226	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.28454	1.61	2.17	0.199	0.15175	.	.	.	.	.	T	0.24084	0.0583	L	0.34521	1.04	0.09310	N	1	P	0.40282	0.711	P	0.47864	0.559	T	0.17715	-1.0360	9	0.17832	T	0.49	5.0398	2.6704	0.05065	0.1695:0.0:0.5495:0.281	.	306	Q5H9T9	FSCB_HUMAN	D	306	ENSP00000344579:A306D	ENSP00000344579:A306D	A	-	2	0	FSCB	44045024	0.008000	0.16893	0.002000	0.10522	0.288000	0.27193	1.659000	0.37387	0.051000	0.15978	-0.259000	0.10710	GCC		0.517	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		T	44975274	G	T	44975274	3	4	277	1	0	0	0	0	1	0	0	0	6068	1203	42	4	1564	4	FSCB	14	44975274	Missense_Mutation	SNP	G	TCGA-B8-5158-01A-01D-1421-08	22982866	44975274	62374266	44	16577											
NEO1	4756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	73590937	73590937	+	Silent	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr15:73590937T>C	ENST00000339362.5	+	28	4597	c.4150T>C	c.(4150-4152)Tta>Cta	p.L1384L	NEO1_ENST00000261908.6_Silent_p.L1384L|NEO1_ENST00000558964.1_Silent_p.L1373L|NEO1_ENST00000560262.1_Silent_p.L1331L			Q92859	NEO1_HUMAN	neogenin 1	1384					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.L1384L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAGCACACCATTACTGTCCCA	0.582																																																1	Substitution - coding silent(1)	kidney(1)											78	66	70					15																	73590937		2198	4297	6495	SO:0001819	synonymous_variant	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.4150T>C	15.37:g.73590937T>C			B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	CCDS10247.1																																																																																				0.582	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		C	73590937	T	C	73590937	2	2	277	1	0	0	0	0	0	0	0	1	10338	1490	52	3		3	NEO1	15	73590937	Silent	SNP	T	TCGA-B8-5158-01A-01D-1421-08		73590937	28940455	45	16578											
BCL2A1	597	broad.mit.edu;hgsc.bcm.edu	37	15	80253472	80253472	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr15:80253472C>T	ENST00000267953.3	-	2	791	c.465G>A	c.(463-465)atG>atA	p.M155I	BCL2A1_ENST00000335661.6_3'UTR	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	155					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.M155I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						CTAGAAAAGTCATCCAGCCAG	0.353																																																1	Substitution - Missense(1)	kidney(1)											92	88	89					15																	80253472		2203	4300	6503	SO:0001583	missense	597				CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.465G>A	15.37:g.80253472C>T	ENSP00000267953:p.Met155Ile		Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	C	8.425	0.847383	0.17034	.	.	ENSG00000140379	ENST00000267953	T	0.16597	2.33	3.89	3.89	0.44902	.	.	.	.	.	T	0.10165	0.0249	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14924	-1.0455	9	0.25751	T	0.34	-15.5076	11.703	0.51581	0.0:1.0:0.0:0.0	.	155	Q16548	B2LA1_HUMAN	I	155	ENSP00000267953:M155I	ENSP00000267953:M155I	M	-	3	0	BCL2A1	78040527	0.988000	0.35896	0.997000	0.53966	0.647000	0.38526	2.189000	0.42621	1.880000	0.54463	0.555000	0.69702	ATG		0.353	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		T	80253472	C	T	80253472	3	4	277	1	0	0	0	0	1	0	0	0	1366	826	29	2	66	2	BCL2A1	15	80253472	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08	6662535	80253472	22277920	46	16579											
FOXC2	2303	broad.mit.edu	37	16	86601069	86601069	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr16:86601069G>A	ENST00000320354.4	+	1	213	c.128G>A	c.(127-129)gGc>gAc	p.G43D	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	43					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G43D(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GTCTATTCCGGCCACCCGGAG	0.697									Late-onset Hereditary Lymphedema																																							1	Substitution - Missense(1)	kidney(1)											29	34	33					16																	86601069		2197	4299	6496	SO:0001583	missense	2303	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.128G>A	16.37:g.86601069G>A	ENSP00000326371:p.Gly43Asp		C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591915	0.66219	.	.	ENSG00000176692	ENST00000320354	D	0.95171	-3.63	4.01	4.01	0.46588	.	0.501813	0.16184	U	0.225696	D	0.87148	0.6105	N	0.22421	0.69	0.38221	D	0.940764	P	0.44195	0.828	B	0.33799	0.17	D	0.87393	0.2364	10	0.37606	T	0.19	.	11.0438	0.47846	0.0:0.1893:0.8107:0.0	.	43	Q99958	FOXC2_HUMAN	D	43	ENSP00000326371:G43D	ENSP00000326371:G43D	G	+	2	0	FOXC2	85158570	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.197000	0.58413	2.075000	0.62263	0.556000	0.70494	GGC		0.697	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		A	86601069	G	A	86601069	3	1	277	1	0	0	0	0	1	0	0	0	5997	1203	42	2	130	2	FOXC2	16	86601069	Missense_Mutation	SNP	G	TCGA-B8-5158-01A-01D-1421-08		86601069	3753684	47	16580											
NUP88	4927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5290385	5290385	+	Silent	SNP	G	G	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:5290385G>A	ENST00000573584.1	-	15	2471	c.1962C>T	c.(1960-1962)ctC>ctT	p.L654L	NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	654					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.L654L(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CACTATCAGAGAGAACTGGGA	0.388																																																1	Substitution - coding silent(1)	kidney(1)											94	93	93					17																	5290385		2203	4300	6503	SO:0001819	synonymous_variant	4927			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1962C>T	17.37:g.5290385G>A			D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	CCDS11070.1																																																																																				0.388	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		A	5290385	G	A	5290385	2	1	277	1	0	0	0	0	0	0	0	1	10773	929	33	2		2	NUP88	17	5290385	Silent	SNP	G	TCGA-B8-5158-01A-01D-1421-08		5290385	75904825	48	16581											
TMEM102	284114	broad.mit.edu	37	17	7340786	7340786	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:7340786delG	ENST00000323206.1	+	3	1761	c.1488delG	c.(1486-1488)aagfs	p.K496fs	RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000572907.1_5'Flank|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.8_ENST00000576615.1_RNA|TMEM102_ENST00000396568.1_Frame_Shift_Del_p.K496fs|FGF11_ENST00000293829.4_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	496					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGCCCGCAAGGGGGGCGGTT	0.736																																																0													2	2	2					17																	7340786		1084	2633	3717	SO:0001589	frameshift_variant	284114			AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.1488delG	17.37:g.7340786delG	ENSP00000315387:p.Lys496fs		D3DTP8	Frame_Shift_Del	DEL	ENST00000323206.1	37	CCDS11104.1																																																																																				0.736	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		-	7340786	G	-	7340786	7	5	277	1	0	1	0	1	0	0	0	0	16022	991	35	0	1494	0	TMEM102	17	7340786	Frame_Shift_Del	DEL	G	TCGA-B8-5158-01A-01D-1421-08	2050401	7340786	73854424	49	16582											
MYH2	4620	broad.mit.edu;hgsc.bcm.edu	37	17	10426861	10426861	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:10426861C>A	ENST00000245503.5	-	37	5808	c.5424G>T	c.(5422-5424)caG>caT	p.Q1808H	MYH2_ENST00000397183.2_Missense_Mutation_p.Q1808H|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1808					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)	p.Q1808H(1)		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						TCAGGGCCAGCTGCTCAGCCT	0.552																																																1	Substitution - Missense(1)	kidney(1)											99	102	101					17																	10426861		2203	4300	6503	SO:0001583	missense	4620				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.5424G>T	17.37:g.10426861C>A	ENSP00000245503:p.Gln1808His		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450995	0.63290	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80033	-1.33;-1.33	5.5	4.53	0.55603	Myosin tail (1);	0.000000	0.37483	U	0.002063	D	0.92054	0.7482	H	0.96430	3.82	0.42892	D	0.9942	D	0.89917	1.0	D	0.97110	1.0	D	0.93478	0.6825	10	0.87932	D	0	.	10.6722	0.45766	0.0:0.8553:0.0:0.1447	.	1808	Q9UKX2	MYH2_HUMAN	H	1808	ENSP00000245503:Q1808H;ENSP00000380367:Q1808H	ENSP00000245503:Q1808H	Q	-	3	2	MYH2	10367586	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.682000	0.37628	1.556000	0.49512	0.655000	0.94253	CAG		0.552	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10426861	C	A	10426861	3	1	277	1	0	0	0	0	1	0	0	0	10037	796	28	4	417	4	MYH2	17	10426861	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08	3086075	10426861	70768349	50	16583											
NLE1	54475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33464021	33464021	+	Splice_Site	SNP	T	T	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:33464021T>G	ENST00000442241.4	-	7	866	c.827A>C	c.(826-828)gAc>gCc	p.D276A	NLE1_ENST00000360831.5_Splice_Site_p.D234A|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'Flank	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	276					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D276A(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				AGCACTTACGTCATGAGCTCT	0.572																																																1	Substitution - Missense(1)	kidney(1)											92	95	94					17																	33464021		2203	4300	6503	SO:0001630	splice_region_variant	54475				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.828+1A>C	17.37:g.33464021T>G			O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.89|17.89	3.500520|3.500520	0.64298|0.64298	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000442241;ENST00000537697|ENST00000436188	T|.	0.56444|.	0.46|.	4.6|4.6	4.6|4.6	0.57074|0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56601|0.56601	0.1996|0.1996	L|L	0.41710|0.41710	1.295|1.295	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.53865|0.53865	-0.8378|-0.8378	10|5	0.56958|.	D|.	0.05|.	-14.6923|-14.6923	12.0147|12.0147	0.53307|0.53307	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	276|.	Q9NVX2|.	NLE1_HUMAN|.	A|P	276;252|56	ENSP00000413572:D276A|.	ENSP00000413572:D276A|.	D|T	-|-	2|1	0|0	NLE1|NLE1	30488134|30488134	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.689000|0.689000	0.40095|0.40095	7.250000|7.250000	0.78287|0.78287	1.950000|1.950000	0.56595|0.56595	0.533000|0.533000	0.62120|0.62120	GAC|ACG		0.572	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096	Missense_Mutation	G	33464021	T	G	33464021	5	3	277	1	0	0	0	0	0	0	1	0	10462	1681	58	5	658	5	NLE1	17	33464021	Splice_Site	SNP	T	TCGA-B8-5158-01A-01D-1421-08	23037160	33464021	47731189	51	16584											
SEPT4	5414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56603081	56603081	+	Silent	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:56603081C>A	ENST00000317268.3	-	4	689	c.513G>T	c.(511-513)cgG>cgT	p.R171R	SEPT4_ENST00000580844.1_Silent_p.R72R|SEPT4_ENST00000457347.2_Silent_p.R186R|SEPT4_ENST00000412945.3_Silent_p.R163R|SEPT4_ENST00000317256.6_Silent_p.R152R|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000580809.1_Silent_p.R53R|SEPT4_ENST00000583114.1_Silent_p.R24R|SEPT4_ENST00000579371.1_Silent_p.R72R|SEPT4_ENST00000426861.1_Silent_p.R152R|SEPT4_ENST00000393086.1_Silent_p.R152R|SEPT4_ENST00000580791.1_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	171	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.R171R(1)|p.R152R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTTCCGGTCCCGGTACAGAT	0.522																																																2	Substitution - coding silent(2)	kidney(2)											110	96	101					17																	56603081		2203	4300	6503	SO:0001819	synonymous_variant	5414			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.513G>T	17.37:g.56603081C>A			B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	37	CCDS11610.1																																																																																				0.522	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		A	56603081	C	A	56603081	2	1	277	1	0	0	0	0	0	0	0	1	14072	610	22	4		4	SEPT4	17	56603081	Silent	SNP	C	TCGA-B8-5158-01A-01D-1421-08	23139060	56603081	24592129	52	16585											
KIAA0195	9772	broad.mit.edu;hgsc.bcm.edu	37	17	73485346	73485346	+	Splice_Site	SNP	G	G	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:73485346G>A	ENST00000314256.7	+	8	1158		c.e8-1		KIAA0195_ENST00000583795.1_Splice_Site|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Splice_Site	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195							integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.?(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTTTCTGCAGATGGTGCCTG	0.562																																																1	Unknown(1)	kidney(1)											82	63	69					17																	73485346		2203	4300	6503	SO:0001630	splice_region_variant	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.765-1G>A	17.37:g.73485346G>A			O75536|Q86XF1	Splice_Site	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194453	0.78902	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1817	0.93627	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0195	70996941	1.000000	0.71417	0.989000	0.46669	0.861000	0.49209	8.465000	0.90383	2.526000	0.85167	0.561000	0.74099	.		0.562	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738	Intron	A	73485346	G	A	73485346	5	1	277	1	0	0	0	0	0	0	1	0	8162	956	33	2	790	2	KIAA0195	17	73485346	Splice_Site	SNP	G	TCGA-B8-5158-01A-01D-1421-08	16882265	73485346	7709864	53	16586											
MYO5B	4645	broad.mit.edu;hgsc.bcm.edu	37	18	47432966	47432966	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr18:47432966A>T	ENST00000285039.7	-	19	2536	c.2237T>A	c.(2236-2238)aTc>aAc	p.I746N		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	746	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.I746N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCGAAAGAAGATCTTGGTGCG	0.557																																																1	Substitution - Missense(1)	kidney(1)											60	64	63					18																	47432966		1911	4121	6032	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2237T>A	18.37:g.47432966A>T	ENSP00000285039:p.Ile746Asn		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732196	0.89482	.	.	ENSG00000167306	ENST00000285039	D	0.96334	-3.98	5.42	5.42	0.78866	Myosin head, motor domain (2);	0.056179	0.64402	D	0.000001	D	0.98801	0.9596	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.99636	1.0987	10	0.87932	D	0	.	15.2907	0.73865	1.0:0.0:0.0:0.0	.	746	Q9ULV0	MYO5B_HUMAN	N	746	ENSP00000285039:I746N	ENSP00000285039:I746N	I	-	2	0	MYO5B	45686964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.606000	0.90888	2.268000	0.75426	0.533000	0.62120	ATC		0.557	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47432966	A	T	47432966	3	4	277	1	0	0	0	0	1	0	0	0	10081	333	12	5	3397	5	MYO5B	18	47432966	Missense_Mutation	SNP	A	TCGA-B8-5158-01A-01D-1421-08		47432966	30644282	54	16587											
ZNF407	55628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72346178	72346178	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr18:72346178A>C	ENST00000299687.5	+	1	3203	c.3203A>C	c.(3202-3204)gAg>gCg	p.E1068A	ZNF407_ENST00000309902.6_Missense_Mutation_p.E1068A|ZNF407_ENST00000582337.1_Missense_Mutation_p.E1068A|ZNF407_ENST00000577538.1_Missense_Mutation_p.E1068A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1068					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1068A(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCAGCAACAGAGAAGCACAAA	0.428																																																2	Substitution - Missense(2)	kidney(2)											77	75	76					18																	72346178		2037	4206	6243	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3203A>C	18.37:g.72346178A>C	ENSP00000299687:p.Glu1068Ala		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.399298	0.83120	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.26518	1.73;2.99	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.066071	0.64402	D	0.000020	T	0.42810	0.1219	L	0.32530	0.975	0.34635	D	0.720011	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.984	T	0.55134	-0.8188	10	0.62326	D	0.03	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1068;1068;1068	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	A	1068	ENSP00000299687:E1068A;ENSP00000310359:E1068A	ENSP00000299687:E1068A	E	+	2	0	ZNF407	70475166	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.962000	0.93254	0.719000	0.32188	0.650000	0.86243	GAG		0.428	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		C	72346178	A	C	72346178	3	2	277	1	0	0	0	0	1	0	0	0	17892	304	11	5	3205	5	ZNF407	18	72346178	Missense_Mutation	SNP	A	TCGA-B8-5158-01A-01D-1421-08	24913212	72346178	5731070	55	16588											
ZNF491	126069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11917136	11917136	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr19:11917136T>A	ENST00000323169.5	+	3	699	c.368T>A	c.(367-369)gTa>gAa	p.V123E	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V123E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGATATATGGTAACGCACAGT	0.398																																																1	Substitution - Missense(1)	kidney(1)											91	92	91					19																	11917136		2203	4300	6503	SO:0001583	missense	126069			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.368T>A	19.37:g.11917136T>A	ENSP00000313443:p.Val123Glu		Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	t	9.848	1.192895	0.21954	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.17370	2.44;2.28	0.914	-0.367	0.12541	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	N	0.04148	-0.265	0.09310	N	0.999998	B	0.28636	0.218	B	0.31390	0.129	T	0.33752	-0.9856	9	0.72032	D	0.01	.	3.1434	0.06463	0.2339:0.0:0.4679:0.2981	.	123	Q8N8L2	ZN491_HUMAN	E	123	ENSP00000313443:V123E;ENSP00000392176:V123E	ENSP00000313443:V123E	V	+	2	0	ZNF491	11778136	0.000000	0.05858	0.053000	0.19242	0.643000	0.38383	-4.253000	0.00265	-0.187000	0.10516	0.418000	0.28097	GTA		0.398	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		A	11917136	T	A	11917136	3	1	277	1	0	0	0	0	1	0	0	0	17947	1638	57	5	370	5	ZNF491	19	11917136	Missense_Mutation	SNP	T	TCGA-B8-5158-01A-01D-1421-08		11917136	47211847	56	16589											
MACROD2	140733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	15967789	15967789	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr20:15967789A>C	ENST00000310348.4	+	15	1139	c.1139A>C	c.(1138-1140)aAa>aCa	p.K380T	MACROD2_ENST00000378058.3_Missense_Mutation_p.K145T|MACROD2_ENST00000402914.1_Missense_Mutation_p.K145T|MACROD2_ENST00000217246.4_Missense_Mutation_p.K380T|MACROD2_ENST00000407045.3_Missense_Mutation_p.K31T			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	380	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.K145T(1)|p.K380T(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAAGAAGAAAAAGAAGGTGAA	0.383																																																2	Substitution - Missense(2)	kidney(2)											107	104	105					20																	15967789		2203	4300	6503	SO:0001583	missense	140733			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1139A>C	20.37:g.15967789A>C	ENSP00000309809:p.Lys380Thr		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	11.66	1.705387	0.30232	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.48836	2.42;2.42;0.8;0.8	5.68	4.52	0.55395	.	0.518330	0.17852	N	0.159801	T	0.39462	0.1079	L	0.34521	1.04	0.19775	N	0.999955	B;B;B	0.25609	0.13;0.041;0.069	B;B;B	0.32533	0.147;0.023;0.034	T	0.39333	-0.9619	10	0.72032	D	0.01	-2.7354	9.5361	0.39224	0.843:0.0:0.0:0.157	.	31;380;380	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	T	380;380;145;145;31	ENSP00000217246:K380T;ENSP00000309809:K380T;ENSP00000385290:K145T;ENSP00000367297:K145T	ENSP00000217246:K380T	K	+	2	0	MACROD2	15915789	0.995000	0.38212	0.416000	0.26546	0.904000	0.53231	1.120000	0.31271	2.166000	0.68216	0.482000	0.46254	AAA		0.383	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		C	15967789	A	C	15967789	3	2	277	1	0	0	0	0	1	0	0	0	9148	14	1	5	1197	5	MACROD2	20	15967789	Missense_Mutation	SNP	A	TCGA-B8-5158-01A-01D-1421-08		15967789	47057731	57	16590											
MYBL2	4605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	42344673	42344673	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr20:42344673G>T	ENST00000217026.4	+	14	2176	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H	MYBL2_ENST00000396863.4_Missense_Mutation_p.Q659H	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	683					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q683H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAGCCCGGCAGCTCCTGGGCC	0.602																																																1	Substitution - Missense(1)	kidney(1)											108	115	113					20																	42344673		2203	4300	6503	SO:0001583	missense	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.2049G>T	20.37:g.42344673G>T	ENSP00000217026:p.Gln683His		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598318	0.66332	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15487	2.42;2.42	4.73	4.73	0.59995	.	0.193934	0.46758	D	0.000265	T	0.31389	0.0795	L	0.51422	1.61	0.36438	D	0.86534	D;D	0.67145	0.995;0.996	P;D	0.64687	0.885;0.928	T	0.24621	-1.0155	10	0.72032	D	0.01	-20.5399	10.5481	0.45072	0.0916:0.0:0.9084:0.0	.	659;683	F8W6N6;P10244	.;MYBB_HUMAN	H	659;683	ENSP00000380072:Q659H;ENSP00000217026:Q683H	ENSP00000217026:Q683H	Q	+	3	2	MYBL2	41778087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.932000	0.48940	2.355000	0.79922	0.491000	0.48974	CAG		0.602	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		T	42344673	G	T	42344673	3	4	277	1	0	0	0	0	1	0	0	0	10012	962	34	4	2103	4	MYBL2	20	42344673	Missense_Mutation	SNP	G	TCGA-B8-5158-01A-01D-1421-08	26376884	42344673	20680847	58	16591											
ZFP64	55734	hgsc.bcm.edu;ucsc.edu	37	20	50776871	50776871	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr20:50776871delC	ENST00000216923.4	-	5	903	c.554delG	c.(553-555)agcfs	p.S185fs	ZFP64_ENST00000371518.2_Frame_Shift_Del_p.S185fs|ZFP64_ENST00000371515.4_Frame_Shift_Del_p.S183fs|ZFP64_ENST00000346617.4_Frame_Shift_Del_p.S131fs|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000361387.2_Frame_Shift_Del_p.S185fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GTCTTTCCGGCTAAAGCACTT	0.507																																																0													151	139	143					20																	50776871		2203	4300	6503	SO:0001589	frameshift_variant	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.554delG	20.37:g.50776871delC	ENSP00000216923:p.Ser185fs		Q9NTS7|Q9NVH4	Frame_Shift_Del	DEL	ENST00000216923.4	37	CCDS13440.1																																																																																				0.507	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		-	50776871	C	-	50776871	7	5	277	1	0	1	0	1	0	0	0	0	17657	797	28	0	2690	0	ZFP64	20	50776871	Frame_Shift_Del	DEL	C	TCGA-B8-5158-01A-01D-1421-08	8432198	50776871	12248649	59	16592											
LAMA5	3911	broad.mit.edu;hgsc.bcm.edu	37	20	60921136	60921136	+	Splice_Site	SNP	C	C	T	rs112620160		TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr20:60921136C>T	ENST00000252999.3	-	10	1484		c.e10+1		LAMA5_ENST00000370677.3_Splice_Site|LAMA5_ENST00000370692.3_Splice_Site	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.?(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAGGTGCTCACGGTAGCAGCT	0.652																																																1	Unknown(1)	kidney(1)											40	40	40					20																	60921136		2202	4297	6499	SO:0001630	splice_region_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1417+1G>A	20.37:g.60921136C>T			Q8TDF8|Q8WZA7|Q9H1P1	Splice_Site	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852263	0.71719	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8106	0.88614	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA5	60354531	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.316000	0.79007	2.196000	0.70406	0.561000	0.74099	.		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	Intron	T	60921136	C	T	60921136	5	4	277	1	0	0	0	0	0	0	1	0	8611	550	19	1	9953	1	LAMA5	20	60921136	Splice_Site	SNP	C	TCGA-B8-5158-01A-01D-1421-08	10144265	60921136	2104384	60	16593											
EP300	2033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	41574794	41574794	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr22:41574794A>G	ENST00000263253.7	+	31	8298	c.7079A>G	c.(7078-7080)gAa>gGa	p.E2360G	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2360					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.E2360G(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AACCCCATGGAACAAGGGCAT	0.577			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	1	Substitution - Missense(1)	kidney(1)											57	61	59					22																	41574794		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.7079A>G	22.37:g.41574794A>G	ENSP00000263253:p.Glu2360Gly		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.051018	0.36181	.	.	ENSG00000100393	ENST00000263253	D	0.84516	-1.86	5.65	5.65	0.86999	.	0.478549	0.17157	N	0.184831	T	0.79834	0.4514	L	0.34521	1.04	0.40037	D	0.975601	B	0.27791	0.189	B	0.22386	0.039	T	0.78229	-0.2285	10	0.62326	D	0.03	-9.3055	15.8689	0.79091	1.0:0.0:0.0:0.0	.	2360	Q09472	EP300_HUMAN	G	2360	ENSP00000263253:E2360G	ENSP00000263253:E2360G	E	+	2	0	EP300	39904740	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.261000	0.65496	2.150000	0.67090	0.533000	0.62120	GAA		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		G	41574794	A	G	41574794	3	3	277	1	0	0	0	0	1	0	0	0	5150	246	9	3	7201	3	EP300	22	41574794	Missense_Mutation	SNP	A	TCGA-B8-5158-01A-01D-1421-08		41574794	9729772	61	16594											
SREBF2	6721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42273293	42273293	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr22:42273293C>T	ENST00000361204.4	+	8	1613	c.1447C>T	c.(1447-1449)Ctt>Ttt	p.L483F		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	483	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L483F(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTCACGGATTCTTCTGTGTGT	0.562																																																1	Substitution - Missense(1)	kidney(1)											135	130	132					22																	42273293		2203	4300	6503	SO:0001583	missense	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1447C>T	22.37:g.42273293C>T	ENSP00000354476:p.Leu483Phe		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964004	0.92791	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.54866	0.55	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.69847	-0.5034	10	0.56958	D	0.05	-16.3421	20.6227	0.99507	0.0:1.0:0.0:0.0	.	483	Q12772	SRBP2_HUMAN	F	483	ENSP00000354476:L483F	ENSP00000354476:L483F	L	+	1	0	SREBF2	40603239	0.997000	0.39634	0.996000	0.52242	0.985000	0.73830	3.140000	0.50585	2.885000	0.99019	0.643000	0.83706	CTT		0.562	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		T	42273293	C	T	42273293	3	4	277	1	0	0	0	0	1	0	0	0	15147	913	32	2	1477	2	SREBF2	22	42273293	Missense_Mutation	SNP	C	TCGA-B8-5158-01A-01D-1421-08	698499	42273293	9031273	62	16595											
FBLN1	2192	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45937233	45937233	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr22:45937233G>C	ENST00000327858.6	+	9	1142	c.1047G>C	c.(1045-1047)gaG>gaC	p.E349D	FBLN1_ENST00000402984.3_Missense_Mutation_p.E387D|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.E349D|FBLN1_ENST00000340923.5_Missense_Mutation_p.E349D|FBLN1_ENST00000442170.2_Missense_Mutation_p.E349D|FBLN1_ENST00000348697.2_Missense_Mutation_p.E349D	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	349	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.E349D(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATCTCAACGAGGAGGGAACGC	0.537																																																3	Substitution - Missense(3)	kidney(3)											102	85	90					22																	45937233		2203	4300	6503	SO:0001583	missense	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1047G>C	22.37:g.45937233G>C	ENSP00000331544:p.Glu349Asp		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821188	0.32237	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-2.2;-3.01;-3.01	5.41	-3.92	0.04155	EGF-like calcium-binding (2);	0.347798	0.33005	N	0.005396	T	0.79358	0.4432	N	0.21583	0.68	0.39554	D	0.969025	B;B;B;B	0.18863	0.031;0.002;0.022;0.014	B;B;B;B	0.23419	0.046;0.006;0.032;0.027	T	0.58370	-0.7648	10	0.14656	T	0.56	.	3.8269	0.08858	0.1947:0.4181:0.281:0.1062	.	387;349;349;349	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	D	349;387;349;349;349;349	ENSP00000262723:E349D;ENSP00000385521:E387D;ENSP00000262722:E349D;ENSP00000331544:E349D;ENSP00000393812:E349D;ENSP00000342212:E349D	ENSP00000262722:E349D	E	+	3	2	FBLN1	44315897	0.989000	0.36119	0.946000	0.38457	0.837000	0.47467	0.271000	0.18626	-0.448000	0.07128	0.655000	0.94253	GAG		0.537	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		C	45937233	G	C	45937233	3	2	277	1	0	0	0	0	1	0	0	0	5700	991	35	4	1081	4	FBLN1	22	45937233	Missense_Mutation	SNP	G	TCGA-B8-5158-01A-01D-1421-08	3663940	45937233	5367333	63	16596											
SBF1	6305	broad.mit.edu;hgsc.bcm.edu	37	22	50903272	50903272	+	Silent	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr22:50903272T>C	ENST00000390679.3	-	13	1591	c.1407A>G	c.(1405-1407)gaA>gaG	p.E469E	SBF1_ENST00000380817.3_Silent_p.E469E|SBF1_ENST00000348911.6_Silent_p.E470E			O95248	MTMR5_HUMAN	SET binding factor 1	469					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E469E(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCTCTGCCAGTTCCTGGACGT	0.657																																																2	Substitution - coding silent(2)	kidney(2)											46	52	50					22																	50903272		2139	4235	6374	SO:0001819	synonymous_variant	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1407A>G	22.37:g.50903272T>C			A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37																																																																																					0.657	SBF1-201	KNOWN	basic	protein_coding	protein_coding				C	50903272	T	C	50903272	2	2	277	1	0	0	0	0	0	0	0	1	13864	1722	60	3		3	SBF1	22	50903272	Silent	SNP	T	TCGA-B8-5158-01A-01D-1421-08	4966039	50903272	401294	64	16597											
RBMX	27316	hgsc.bcm.edu	37	X	135961587	135961587	+	5'UTR	DEL	G	G	-	rs201673579|rs2011584		TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chrX:135961587delG	ENST00000320676.7	-	0	154				RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000562646.1_5'UTR|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000431446.3_5'UTR|RBMX_ENST00000565438.1_Intron	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTCAACCATGTTTTTTTTTT	0.393																																																1	Unknown(1)	ovary(1)											53	53	53					X																	135961587		2198	4294	6492	SO:0001623	5_prime_UTR_variant	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.-1C>-	X.37:g.135961587delG			B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Del	DEL	ENST00000320676.7	37	CCDS14661.1																																																																																				0.393	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		-	135961587	G	-	135961587	6	5	277	0	1	1	0	1	0	0	0	0	13157	1392	48	0		0	RBMX	23	135961587	5'UTR	DEL	G	TCGA-B8-5158-01A-01D-1421-08		135961587	19308973	65	16598											
RERE	473	broad.mit.edu	37	1	8420358	8420358	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:8420358delC	ENST00000337907.3	-	19	3843	c.3209delG	c.(3208-3210)tgcfs	p.C1070fs	RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Frame_Shift_Del_p.C1070fs|RERE_ENST00000476556.1_Frame_Shift_Del_p.C516fs|RERE_ENST00000377464.1_Frame_Shift_Del_p.C802fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1070	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CGCACCAGAGCAGGGTGGCTG	0.701																																																0													3	4	4					1																	8420358		1874	3821	5695	SO:0001589	frameshift_variant	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3209delG	1.37:g.8420358delC	ENSP00000338629:p.Cys1070fs		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	CCDS95.1																																																																																				0.701	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			-	8420358	C	-	8420358	7	5	278	1	0	1	0	1	0	0	0	0	13237	710	25	0	1515	0	RERE	1	8420358	Frame_Shift_Del	DEL	C	TCGA-B8-5159-01A-01D-1421-08		8420358	240830263	1	16599											
MRPS15	64960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36926350	36926350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:36926350G>A	ENST00000373116.5	-	5	489	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	MRPS15_ENST00000488606.1_5'Flank	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	110					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Q110*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCATAAACTGTTCTTGCTTG	0.522																																																1	Substitution - Nonsense(1)	kidney(1)											160	155	157					1																	36926350		2203	4300	6503	SO:0001587	stop_gained	64960			AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"Mitochondrial ribosomal proteins / small subunits"	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.328C>T	1.37:g.36926350G>A	ENSP00000362208:p.Gln110*		B2RD82|Q9H2K1	Nonsense_Mutation	SNP	ENST00000373116.5	37	CCDS411.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439134	0.63067	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.27	2.32	0.28847	.	0.171406	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-3.0943	8.8367	0.35117	0.2544:0.0:0.7456:0.0	.	.	.	.	X	110	.	ENSP00000362208:Q110X	Q	-	1	0	MRPS15	36698937	0.733000	0.28132	0.215000	0.23724	0.189000	0.23516	1.331000	0.33793	0.288000	0.22398	-0.136000	0.14681	CAG		0.522	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		A	36926350	G	A	36926350	4	1	278	1	0	0	0	0	0	1	0	0	9827	1386	48	2	461	2	MRPS15	1	36926350	Nonsense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	28505992	36926350	212324271	2	16600											
C1orf123	54987	broad.mit.edu;hgsc.bcm.edu	37	1	53686011	53686011	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:53686011G>C	ENST00000294360.4	-	2	53	c.12C>G	c.(10-12)atC>atG	p.I4M	C1orf123_ENST00000470385.1_5'UTR|RP5-1024G6.7_ENST00000569869.1_RNA	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	4						extracellular vesicular exosome (GO:0070062)		p.I4M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						GTTGCAGCGCGATTTTCTGAG	0.706																																																1	Substitution - Missense(1)	kidney(1)											56	59	58					1																	53686011		2203	4300	6503	SO:0001583	missense	54987			BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.12C>G	1.37:g.53686011G>C	ENSP00000294360:p.Ile4Met			Missense_Mutation	SNP	ENST00000294360.4	37	CCDS576.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745421	0.49151	.	.	ENSG00000162384	ENST00000294360;ENST00000371480	.	.	.	6.07	-3.73	0.04398	.	0.161546	0.53938	D	0.000055	T	0.62208	0.2409	M	0.71581	2.175	0.42902	D	0.994237	D	0.65815	0.995	D	0.68483	0.958	T	0.62091	-0.6927	9	0.87932	D	0	-20.6019	1.6496	0.02769	0.2941:0.0964:0.4113:0.1982	.	4	Q9NWV4	CA123_HUMAN	M	4	.	ENSP00000294360:I4M	I	-	3	3	C1orf123	53458599	0.992000	0.36948	0.939000	0.37840	0.003000	0.03518	0.247000	0.18179	-0.622000	0.05626	-0.826000	0.03091	ATC		0.706	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024751.1	NM_017887		C	53686011	G	C	53686011	3	2	278	1	0	0	0	0	1	0	0	0	1993	1048	37	4	498	4	C1orf123	1	53686011	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	16759661	53686011	195564610	3	16601											
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62330119	62330119	+	Silent	SNP	A	A	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:62330119A>G	ENST00000371158.2	+	20	2763	c.2649A>G	c.(2647-2649)tcA>tcG	p.S883S	INADL_ENST00000316485.6_Silent_p.S883S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	883					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.S883S(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGATCCCTCACCATCCATGG	0.428																																																1	Substitution - coding silent(1)	kidney(1)											144	140	141					1																	62330119		2203	4300	6503	SO:0001819	synonymous_variant	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2649A>G	1.37:g.62330119A>G			O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				0.428	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		G	62330119	A	G	62330119	2	3	278	1	0	0	0	0	0	0	0	1	7733	146	6	3		3	INADL	1	62330119	Silent	SNP	A	TCGA-B8-5159-01A-01D-1421-08	8644108	62330119	186920502	4	16602											
LRRC40	55631	broad.mit.edu;hgsc.bcm.edu	37	1	70671195	70671195	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:70671195T>C	ENST00000370952.3	-	1	108	c.29A>G	c.(28-30)cAg>cGg	p.Q10R	SRSF11_ENST00000454435.2_5'Flank|SRSF11_ENST00000370950.3_5'Flank|SRSF11_ENST00000405432.1_5'Flank|SRSF11_ENST00000370951.1_5'Flank	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	10						membrane (GO:0016020)		p.Q10R(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GCGGAGATCCTGCCCCGCTAT	0.612																																																1	Substitution - Missense(1)	kidney(1)											50	47	48					1																	70671195		2203	4300	6503	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.29A>G	1.37:g.70671195T>C	ENSP00000359990:p.Gln10Arg		Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	T	6.024	0.372769	0.11409	.	.	ENSG00000066557	ENST00000370952	T	0.32515	1.45	4.72	-2.37	0.06643	.	0.932273	0.09081	N	0.851370	T	0.01870	0.0059	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	10	0.20046	T	0.44	.	3.523	0.07750	0.2722:0.241:0.4005:0.0863	.	10	Q9H9A6	LRC40_HUMAN	R	10	ENSP00000359990:Q10R	ENSP00000359990:Q10R	Q	-	2	0	LRRC40	70443783	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	-0.415000	0.07106	-0.186000	0.10533	-2.409000	0.00222	CAG		0.612	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		C	70671195	T	C	70671195	3	2	278	1	0	0	0	0	1	0	0	0	9000	1580	55	3	1839	3	LRRC40	1	70671195	Missense_Mutation	SNP	T	TCGA-B8-5159-01A-01D-1421-08	8341076	70671195	178579426	5	16603											
THEM5	284486	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151820729	151820729	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:151820729C>G	ENST00000368817.5	-	4	635	c.504G>C	c.(502-504)gaG>gaC	p.E168D	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	168					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.E168D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TAGAAAAGGTCTCGTCCATCA	0.592																																																1	Substitution - Missense(1)	kidney(1)											74	75	75					1																	151820729		2203	4300	6503	SO:0001583	missense	284486			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.504G>C	1.37:g.151820729C>G	ENSP00000357807:p.Glu168Asp		Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	CCDS1005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.057651|3.057651	0.55325|0.55325	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000368817|ENST00000453881	T|.	0.26518|.	1.73|.	5.42|5.42	3.55|3.55	0.40652|0.40652	Thioesterase superfamily (1);|.	0.115539|.	0.64402|.	D|.	0.000014|.	T|T	0.42899|0.42899	0.1223|0.1223	M|M	0.80746|0.80746	2.51|2.51	0.29372|0.29372	N|N	0.863905|0.863905	D|.	0.69078|.	0.997|.	P|.	0.59948|.	0.866|.	T|T	0.41088|0.41088	-0.9528|-0.9528	10|5	0.42905|.	T|.	0.14|.	-10.874|-10.874	7.2718|7.2718	0.26260|0.26260	0.0:0.807:0.0:0.193|0.0:0.807:0.0:0.193	.|.	168|.	Q8N1Q8|.	THEM5_HUMAN|.	D|T	168|115	ENSP00000357807:E168D|.	ENSP00000357807:E168D|.	E|R	-|-	3|2	2|0	THEM5|THEM5	150087353|150087353	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.961000|0.961000	0.63080|0.63080	1.595000|1.595000	0.36708|0.36708	1.303000|1.303000	0.44873|0.44873	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.592	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		G	151820729	C	G	151820729	3	3	278	1	0	0	0	0	1	0	0	0	15864	912	32	4	251	4	THEM5	1	151820729	Missense_Mutation	SNP	C	TCGA-B8-5159-01A-01D-1421-08	81149534	151820729	97429892	6	16604											
PAPPA2	60676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	176738772	176738772	+	Silent	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr1:176738772G>C	ENST00000367662.3	+	16	5517	c.4353G>C	c.(4351-4353)ggG>ggC	p.G1451G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1451	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G1451G(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTTCTTCTGGGCACTGGGACC	0.473																																																1	Substitution - coding silent(1)	kidney(1)											124	115	118					1																	176738772		1904	4122	6026	SO:0001819	synonymous_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4353G>C	1.37:g.176738772G>C			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																				0.473	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			C	176738772	G	C	176738772	2	2	278	1	0	0	0	0	0	0	0	1	11435	1190	42	4		4	PAPPA2	1	176738772	Silent	SNP	G	TCGA-B8-5159-01A-01D-1421-08	24918043	176738772	72511849	7	16605											
ZFP36L2	678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43452470	43452470	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:43452470A>G	ENST00000282388.3	-	2	766	c.473T>C	c.(472-474)cTg>cCg	p.L158P	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	158					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L158P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGCCGGCACAGCTCGGTCTT	0.657																																																1	Substitution - Missense(1)	kidney(1)											37	37	37					2																	43452470		2203	4300	6503	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.473T>C	2.37:g.43452470A>G	ENSP00000282388:p.Leu158Pro		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309824	0.81247	.	.	ENSG00000152518	ENST00000282388	T	0.54279	0.58	4.76	4.76	0.60689	Zinc finger, CCCH-type (3);	0.130623	0.40222	N	0.001150	T	0.77205	0.4096	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82880	-0.0238	10	0.87932	D	0	-20.7207	13.3301	0.60480	1.0:0.0:0.0:0.0	.	158	P47974	TISD_HUMAN	P	158	ENSP00000282388:L158P	ENSP00000282388:L158P	L	-	2	0	ZFP36L2	43305974	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.715000	0.91416	1.789000	0.52484	0.454000	0.30748	CTG		0.657	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		G	43452470	A	G	43452470	3	3	278	1	0	0	0	0	1	0	0	0	17652	188	7	3	1015	3	ZFP36L2	2	43452470	Missense_Mutation	SNP	A	TCGA-B8-5159-01A-01D-1421-08		43452470	199746903	8	16606											
CCDC88A	55704	broad.mit.edu	37	2	55562094	55562094	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:55562094T>G	ENST00000436346.1	-	15	2704	c.1863A>C	c.(1861-1863)aaA>aaC	p.K621N	AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.K621N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K621N|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.K621N|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	621					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.K621N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CTCCTTTTTCTTTATAATGTT	0.239																																																2	Substitution - Missense(2)	kidney(2)											29	27	27					2																	55562094		2199	4294	6493	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1863A>C	2.37:g.55562094T>G	ENSP00000410608:p.Lys621Asn		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	T	15.35	2.806731	0.50421	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.18	4.02	0.46733	.	0.000000	0.51477	U	0.000096	T	0.45458	0.1343	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.954;0.996;0.998	T	0.32481	-0.9905	10	0.56958	D	0.05	-24.4493	8.2178	0.31524	0.0:0.1546:0.0:0.8454	.	621;621;621	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	N	621	ENSP00000338728:K621N;ENSP00000263630:K621N;ENSP00000410608:K621N;ENSP00000404431:K621N	ENSP00000263630:K621N	K	-	3	2	CCDC88A	55415598	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.898000	0.39809	0.808000	0.34231	-0.379000	0.06801	AAA		0.239	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		G	55562094	T	G	55562094	3	3	278	1	0	0	0	0	1	0	0	0	2865	1606	56	5	3824	5	CCDC88A	2	55562094	Missense_Mutation	SNP	T	TCGA-B8-5159-01A-01D-1421-08	12109624	55562094	187637279	9	16607											
ATP6V1B1	525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	71190718	71190718	+	Silent	SNP	C	C	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:71190718C>A	ENST00000234396.4	+	11	1150	c.1077C>A	c.(1075-1077)atC>atA	p.I359I	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.I342I|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	359					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.I359I(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCCACCCTATCCCAGACTTGA	0.562																																																1	Substitution - coding silent(1)	kidney(1)											160	120	134					2																	71190718		2203	4300	6503	SO:0001819	synonymous_variant	525			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"ATPases / V-type"	853	protein-coding gene	gene with protein product	"Renal tubular acidosis with deafness"	192132	"vacuolar proton pump 3"	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1077C>A	2.37:g.71190718C>A			Q53FY0|Q6P4H6	Silent	SNP	ENST00000234396.4	37	CCDS1912.1																																																																																				0.562	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		A	71190718	C	A	71190718	2	1	278	1	0	0	0	0	0	0	0	1	1178	845	30	4		4	ATP6V1B1	2	71190718	Silent	SNP	C	TCGA-B8-5159-01A-01D-1421-08	15628624	71190718	172008655	10	16608											
ZNF638	27332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	71658543	71658543	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:71658543T>C	ENST00000409544.1	+	26	6367	c.5737T>C	c.(5737-5739)Tct>Cct	p.S1913P	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.S1913P|ZNF638_ENST00000409407.1_Missense_Mutation_p.S853P	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1913					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1913P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATCAGTGGCGTCTGATGTCCC	0.428																																																1	Substitution - Missense(1)	kidney(1)											49	49	49					2																	71658543		2203	4300	6503	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5737T>C	2.37:g.71658543T>C	ENSP00000386433:p.Ser1913Pro		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	9.882	1.201973	0.22121	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.32023	1.47;1.47;1.96	4.87	-6.44	0.01920	.	1.795260	0.02881	N	0.132792	T	0.11965	0.0291	N	0.04203	-0.255	0.24777	N	0.992831	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.25984	-1.0116	10	0.09843	T	0.71	6.4613	8.2544	0.31746	0.0:0.1388:0.2473:0.6139	.	1913;1913	Q14966-3;Q14966	.;ZN638_HUMAN	P	1913;1913;853	ENSP00000264447:S1913P;ENSP00000386433:S1913P;ENSP00000386813:S853P	ENSP00000264447:S1913P	S	+	1	0	ZNF638	71512051	0.000000	0.05858	0.013000	0.15412	0.985000	0.73830	-5.707000	0.00103	-1.253000	0.02488	0.392000	0.25879	TCT		0.428	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		C	71658543	T	C	71658543	3	2	278	1	0	0	0	0	1	0	0	0	18060	1667	58	3	5835	3	ZNF638	2	71658543	Missense_Mutation	SNP	T	TCGA-B8-5159-01A-01D-1421-08	467825	71658543	171540830	11	16609											
TMEM131	23505	broad.mit.edu	37	2	98375417	98375417	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:98375417G>T	ENST00000186436.5	-	40	5534	c.5306C>A	c.(5305-5307)cCa>cAa	p.P1769Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1769	Ser-rich.					integral component of membrane (GO:0016021)		p.P1769Q(1)|p.P1656Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ATCTGTCGCTGGCGACTCCCA	0.587																																																2	Substitution - Missense(2)	kidney(2)											51	59	56					2																	98375417		2002	4184	6186	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5306C>A	2.37:g.98375417G>T	ENSP00000186436:p.Pro1769Gln			Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116680	0.37339	.	.	ENSG00000075568	ENST00000186436	T	0.37058	1.22	5.37	5.37	0.77165	.	0.181808	0.50627	D	0.000114	T	0.42017	0.1184	N	0.24115	0.695	0.80722	D	1	P;D	0.57571	0.745;0.98	B;P	0.55965	0.282;0.788	T	0.33777	-0.9855	10	0.59425	D	0.04	-16.0128	17.6547	0.88174	0.0:0.0:1.0:0.0	.	1769;149	Q92545;Q0P631	TM131_HUMAN;.	Q	1769	ENSP00000186436:P1769Q	ENSP00000186436:P1769Q	P	-	2	0	TMEM131	97741849	1.000000	0.71417	0.581000	0.28614	0.113000	0.19764	7.740000	0.84986	2.655000	0.90218	0.643000	0.83706	CCA		0.587	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		T	98375417	G	T	98375417	3	4	278	1	0	0	0	0	1	0	0	0	16049	1348	47	4	353	4	TMEM131	2	98375417	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	26716874	98375417	144823956	12	16610											
ZDBF2	57683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	207174466	207174466	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr2:207174466A>T	ENST00000374423.3	+	5	5600	c.5214A>T	c.(5212-5214)gaA>gaT	p.E1738D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1738							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E1738D(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAGATCTAGAAGTGAGCTGTG	0.443																																																2	Substitution - Missense(2)	kidney(2)											73	72	73					2																	207174466		1862	4099	5961	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5214A>T	2.37:g.207174466A>T	ENSP00000363545:p.Glu1738Asp		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.365750	0.24684	.	.	ENSG00000204186	ENST00000374423	T	0.46819	0.86	3.96	2.76	0.32466	.	.	.	.	.	T	0.24547	0.0595	N	0.08118	0	0.09310	N	1	P	0.46987	0.888	B	0.41374	0.355	T	0.03483	-1.1032	9	0.26408	T	0.33	.	6.375	0.21503	0.8853:0.0:0.1147:0.0	.	1738	Q9HCK1	ZDBF2_HUMAN	D	1738	ENSP00000363545:E1738D	ENSP00000363545:E1738D	E	+	3	2	ZDBF2	206882711	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.254000	0.18314	0.835000	0.34877	0.528000	0.53228	GAA		0.443	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		T	207174466	A	T	207174466	3	4	278	1	0	0	0	0	1	0	0	0	17604	69	3	5	5224	5	ZDBF2	2	207174466	Missense_Mutation	SNP	A	TCGA-B8-5159-01A-01D-1421-08	108799049	207174466	36024907	13	16611											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191536	10191536	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr3:10191536A>T	ENST00000256474.2	+	3	1369	c.529A>T	c.(529-531)Aga>Tga	p.R177*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.R136*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	177			R -> RLRVKPE (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R177*(4)|p.Y175fs*1(1)|p.R176fs*24(1)|p.R177fs*>38(1)|p.R177fs*25(1)|p.Y175_L178>*(1)|p.R176fs*36(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GAATTACAGGAGACTGGACAT	0.527		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Substitution - Nonsense(4)|Deletion - Frameshift(4)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(10)	GRCh37	CM961438	VHL	M							91	82	85					3																	10191536		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.529A>T	3.37:g.10191536A>T	ENSP00000256474:p.Arg177*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261639	0.80358	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.97	0.981	0.19756	.	0.572417	0.19120	N	0.122201	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8693	11.3131	0.49375	0.5504:0.4496:0.0:0.0	.	.	.	.	X	177;136;95	.	ENSP00000256474:R177X	R	+	1	2	VHL	10166536	0.996000	0.38824	0.315000	0.25238	0.956000	0.61745	3.025000	0.49681	0.077000	0.16863	0.533000	0.62120	AGA		0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191536	A	T	10191536	4	4	278	1	0	0	0	0	0	1	0	0	17167	296	11	5	539	5	VHL	3	10191536	Nonsense_Mutation	SNP	A	TCGA-B8-5159-01A-01D-1421-08		10191536	187830894	14	16612											
TRIM71	131405	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	32932071	32932071	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr3:32932071G>C	ENST00000383763.5	+	4	1438	c.1375G>C	c.(1375-1377)Gtc>Ctc	p.V459L		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	459					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V459L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACGACCGAGTCATGTTCAC	0.612																																																1	Substitution - Missense(1)	kidney(1)											71	79	76					3																	32932071		2029	4176	6205	SO:0001583	missense	131405				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1375G>C	3.37:g.32932071G>C	ENSP00000373272:p.Val459Leu			Missense_Mutation	SNP	ENST00000383763.5	37	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	5.546	0.285590	0.10513	.	.	ENSG00000206557	ENST00000383763	D	0.81821	-1.54	5.65	2.87	0.33458	.	0.327428	0.33496	N	0.004860	T	0.57227	0.2039	N	0.12182	0.205	0.30153	N	0.80292	B	0.14438	0.01	B	0.15484	0.013	T	0.48456	-0.9034	10	0.02654	T	1	-32.6486	8.0525	0.30585	0.3875:0.0:0.6125:0.0	.	459	Q2Q1W2	LIN41_HUMAN	L	459	ENSP00000373272:V459L	ENSP00000373272:V459L	V	+	1	0	TRIM71	32907075	0.984000	0.35163	0.966000	0.40874	0.998000	0.95712	2.089000	0.41672	0.327000	0.23409	0.650000	0.86243	GTC		0.612	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		C	32932071	G	C	32932071	3	2	278	1	0	0	0	0	1	0	0	0	16549	1029	36	4	1389	4	TRIM71	3	32932071	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	22740535	32932071	165090359	15	16613											
UBP1	7342	broad.mit.edu;hgsc.bcm.edu	37	3	33481335	33481335	+	Silent	SNP	G	G	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr3:33481335G>T	ENST00000283629.3	-	1	535	c.6C>A	c.(4-6)gcC>gcA	p.A2A	UBP1_ENST00000283628.5_Silent_p.A2A|UBP1_ENST00000447368.2_Silent_p.A2A	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	2					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A2A(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGAGCACCCAGGCCATCTTCC	0.726																																																1	Substitution - coding silent(1)	kidney(1)											42	44	43					3																	33481335		2202	4299	6501	SO:0001819	synonymous_variant	7342			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.6C>A	3.37:g.33481335G>T			Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Silent	SNP	ENST00000283629.3	37	CCDS2659.1																																																																																				0.726	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		T	33481335	G	T	33481335	2	4	278	1	0	0	0	0	0	0	0	1	16900	987	35	4		4	UBP1	3	33481335	Silent	SNP	G	TCGA-B8-5159-01A-01D-1421-08	549264	33481335	164541095	16	16614											
PIK3CA	5290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	178921334	178921334	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr3:178921334T>A	ENST00000263967.3	+	5	973	c.816T>A	c.(814-816)taT>taA	p.Y272*		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	272	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Y272*(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCTTACAGTATATAAGAAGCT	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	2	Substitution - Nonsense(2)	kidney(2)											44	43	43					3																	178921334		1822	4085	5907	SO:0001587	stop_gained	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.816T>A	3.37:g.178921334T>A	ENSP00000263967:p.Tyr272*		Q14CW1|Q99762	Nonsense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	33	5.253850	0.95336	.	.	ENSG00000121879	ENST00000263967	.	.	.	5.25	-2.91	0.05631	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.21	13.4533	0.61184	0.0:0.4876:0.0:0.5124	.	.	.	.	X	272	.	ENSP00000263967:Y272X	Y	+	3	2	PIK3CA	180404028	0.224000	0.23674	0.982000	0.44146	0.830000	0.47004	-0.349000	0.07731	-0.408000	0.07565	-0.605000	0.04089	TAT		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178921334	T	A	178921334	4	1	278	1	0	0	0	0	0	1	0	0	11915	1413	49	5	830	5	PIK3CA	3	178921334	Nonsense_Mutation	SNP	T	TCGA-B8-5159-01A-01D-1421-08	145439999	178921334	19101096	17	16615											
LPHN3	23284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	62812747	62812747	+	Silent	SNP	C	C	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr4:62812747C>T	ENST00000514591.1	+	15	2660	c.2331C>T	c.(2329-2331)gtC>gtT	p.V777V	LPHN3_ENST00000504896.1_Silent_p.V777V|LPHN3_ENST00000506700.1_Silent_p.V777V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514996.1_Silent_p.V777V|LPHN3_ENST00000507625.1_Silent_p.V845V|LPHN3_ENST00000508946.1_Silent_p.V777V|LPHN3_ENST00000507164.1_Silent_p.V845V|LPHN3_ENST00000512091.2_Silent_p.V777V|LPHN3_ENST00000509896.1_Silent_p.V845V|LPHN3_ENST00000506746.1_Silent_p.V845V|LPHN3_ENST00000506720.1_Silent_p.V845V|LPHN3_ENST00000514157.1_Silent_p.V777V|LPHN3_ENST00000511324.1_Silent_p.V845V|LPHN3_ENST00000545650.1_Silent_p.V777V|LPHN3_ENST00000508693.1_Silent_p.V845V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	764					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.V777V(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTGTTATTGTCAATTCCCCTG	0.383																																																3	Substitution - coding silent(3)	kidney(3)											202	188	193					4																	62812747		1885	4108	5993	SO:0001819	synonymous_variant	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2331C>T	4.37:g.62812747C>T			E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	7.893	0.732709	0.15507	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.51	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8638	0.13598	0.2656:0.5326:0.1302:0.0716	.	.	.	.	X	235	.	.	Q	+	1	0	LPHN3	62495342	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.500000	0.45381	0.673000	0.31224	-0.259000	0.10710	CAA		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			T	62812747	C	T	62812747	2	4	278	1	0	0	0	0	0	0	0	1	8919	813	29	2		2	LPHN3	4	62812747	Silent	SNP	C	TCGA-B8-5159-01A-01D-1421-08		62812747	128341529	18	16616											
ETFDH	2110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	159627355	159627355	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr4:159627355G>C	ENST00000511912.1	+	11	1632	c.1300G>C	c.(1300-1302)Gaa>Caa	p.E434Q	ETFDH_ENST00000307738.5_Missense_Mutation_p.E387Q	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	434					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)	p.E434Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CCATGTAACTGAATATGAGGA	0.373																																																1	Substitution - Missense(1)	kidney(1)											80	83	82					4																	159627355		2203	4300	6503	SO:0001583	missense	2110			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1300G>C	4.37:g.159627355G>C	ENSP00000426638:p.Glu434Gln		B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676623	0.29783	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.95412	-3.7;-3.7	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.93838	0.8029	L	0.51914	1.62	0.80722	D	1	B;B;B	0.31290	0.201;0.201;0.318	B;B;B	0.33295	0.037;0.028;0.161	D	0.91283	0.5053	10	0.20519	T	0.43	-23.6078	20.2361	0.98357	0.0:0.0:1.0:0.0	.	387;373;434	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	Q	434;387	ENSP00000426638:E434Q;ENSP00000303552:E387Q	ENSP00000303552:E387Q	E	+	1	0	ETFDH	159846805	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	7.954000	0.87848	2.791000	0.96007	0.591000	0.81541	GAA		0.373	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			C	159627355	G	C	159627355	3	2	278	1	0	0	0	0	1	0	0	0	5273	1291	45	4	1342	4	ETFDH	4	159627355	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	96814608	159627355	31526921	19	16617											
CTNND2	1501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	10988319	10988319	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:10988319G>T	ENST00000304623.8	-	20	3436	c.3247C>A	c.(3247-3249)Ctc>Atc	p.L1083I	CTNND2_ENST00000511377.1_Missense_Mutation_p.L992I|CTNND2_ENST00000458100.2_Missense_Mutation_p.L650I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.L746I|CTNND2_ENST00000359640.2_Missense_Mutation_p.L1025I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1083					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L1083I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTTTCTTTGAGGCTGATCATT	0.512											OREG0016517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											189	162	171					5																	10988319		2203	4300	6503	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3247C>A	5.37:g.10988319G>T	ENSP00000307134:p.Leu1083Ile	668	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814614	0.32053	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79653	-1.09;-1.19;-1.09;-1.29;-1.28	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	N	0.24115	0.695	0.58432	D	0.999992	D;D;D	0.63880	0.993;0.993;0.982	D;D;D	0.70016	0.967;0.967;0.952	T	0.73704	-0.3899	10	0.10902	T	0.67	-16.8602	12.5281	0.56098	0.1193:0.0:0.8807:0.0	.	746;675;1083	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	I	1083;1025;992;178;650;746	ENSP00000307134:L1083I;ENSP00000352661:L1025I;ENSP00000426510:L992I;ENSP00000391155:L650I;ENSP00000426887:L746I	ENSP00000307134:L1083I	L	-	1	0	CTNND2	11041319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.643000	0.37217	2.697000	0.92050	0.655000	0.94253	CTC		0.512	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		T	10988319	G	T	10988319	3	4	278	1	0	0	0	0	1	0	0	0	4022	1000	35	4	442	4	CTNND2	5	10988319	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08		10988319	169926941	20	16618											
CCDC125	202243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	68581285	68581285	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:68581285G>C	ENST00000396496.2	-	11	1216	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	CCDC125_ENST00000396499.1_Nonsense_Mutation_p.S370*|CCDC125_ENST00000383374.2_Missense_Mutation_p.H275D|CCDC125_ENST00000511257.1_Nonsense_Mutation_p.S245*|CCDC125_ENST00000460090.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	370						cytoplasm (GO:0005737)		p.S370*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ACTCCTTGGTGATGGAAATCC	0.433																																																1	Substitution - Nonsense(1)	kidney(1)											115	110	112					5																	68581285		2203	4300	6503	SO:0001587	stop_gained	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1109C>G	5.37:g.68581285G>C	ENSP00000379754:p.Ser370*		Q86Z19	Nonsense_Mutation	SNP	ENST00000396496.2	37	CCDS4000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.350221|5.350221	0.95830|0.95830	.|.	.|.	ENSG00000183323|ENSG00000183323	ENST00000383374|ENST00000396496;ENST00000396499;ENST00000511257	T|.	0.42131|.	0.98|.	5.88|5.88	4.08|4.08	0.47627|0.47627	.|.	.|0.641166	.|0.15399	.|N	.|0.264398	T|.	0.63200|.	0.2491|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69982|.	-0.4997|.	5|.	0.72032|0.45353	D|T	0.01|0.12	-0.1707|-0.1707	12.4115|12.4115	0.55469|0.55469	0.1226:0.0:0.8774:0.0|0.1226:0.0:0.8774:0.0	.|.	.|.	.|.	.|.	D|X	275|370;370;245	ENSP00000372865:H275D|.	ENSP00000372865:H275D|ENSP00000379754:S370X	H|S	-|-	1|2	0|0	CCDC125|CCDC125	68617041|68617041	0.020000|0.020000	0.18652|0.18652	0.012000|0.012000	0.15200|0.15200	0.013000|0.013000	0.08279|0.08279	1.088000|1.088000	0.30877|0.30877	2.788000|2.788000	0.95919|0.95919	0.555000|0.555000	0.69702|0.69702	CAC|TCA		0.433	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		C	68581285	G	C	68581285	4	2	278	1	0	0	0	0	0	1	0	0	2763	1294	45	4	434	4	CCDC125	5	68581285	Nonsense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	57592966	68581285	112333975	21	16619											
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	90086882	90086882	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:90086882G>C	ENST00000405460.2	+	70	14332	c.14236G>C	c.(14236-14238)Gag>Cag	p.E4746Q	GPR98_ENST00000425867.2_Missense_Mutation_p.E407Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4746					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E4746Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTGGATCTGGAGAAGAGTAT	0.443																																																1	Substitution - Missense(1)	kidney(1)											144	130	135					5																	90086882		1927	4125	6052	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14236G>C	5.37:g.90086882G>C	ENSP00000384582:p.Glu4746Gln		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	9.753	1.167928	0.21621	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.28069	1.63;1.63	5.7	5.7	0.88788	.	0.338730	0.37623	N	0.002003	T	0.31979	0.0814	L	0.35487	1.065	0.20489	N	0.999891	P;D;D	0.59357	0.93;0.985;0.958	B;P;B	0.46796	0.261;0.527;0.369	T	0.14337	-1.0476	10	0.30854	T	0.27	.	18.8129	0.92065	0.0:0.0:1.0:0.0	.	407;4746;407	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Q	4746;4746;407	ENSP00000384582:E4746Q;ENSP00000392618:E407Q	ENSP00000296619:E4746Q	E	+	1	0	GPR98	90122638	0.992000	0.36948	0.026000	0.17262	0.003000	0.03518	4.363000	0.59473	2.696000	0.92011	0.655000	0.94253	GAG		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	90086882	G	C	90086882	3	2	278	1	0	0	0	0	1	0	0	0	6723	1175	41	4	14514	4	GPR98	5	90086882	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	21505597	90086882	90828378	22	16620											
SLC22A5	6584	hgsc.bcm.edu	37	5	131705726	131705728	+	In_Frame_Del	DEL	TCT	TCT	-	rs377767444		TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:131705726_131705728delTCT	ENST00000245407.3	+	1	283_285	c.62_64delTCT	c.(61-66)atcttc>atc	p.F23del	AC034220.3_ENST00000457998.2_RNA|AC034220.3_ENST00000417795.1_RNA|SLC22A5_ENST00000435065.2_In_Frame_Del_p.F23del	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	23					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CAGCGCCTCATCTTCTTCCTGCT	0.695											OREG0003451	type=REGULATORY REGION|Gene=BC043424|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0																																										SO:0001651	inframe_deletion	6584			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.62_64delTCT	5.37:g.131705729_131705731delTCT	ENSP00000245407:p.Phe23del	1589	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	In_Frame_Del	DEL	ENST00000245407.3	37	CCDS4154.1																																																																																				0.695	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		-	131705728	TCT	-	131705726	7	5	278	1	0	1	0	1	0	0	0	0	14463	1435	50	0	64	0	SLC22A5	5	131705726	In_Frame_Del	DEL	TCT	TCGA-B8-5159-01A-01D-1421-08	41618844	131705726	49209534	23	16621											
PHF15	23338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	133914214	133914214	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:133914214G>C	ENST00000282605.4	+	12	1798	c.1712G>C	c.(1711-1713)gGc>gCc	p.G571A	PHF15_ENST00000361895.2_Missense_Mutation_p.G528A|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000395003.1_Missense_Mutation_p.G527A														p.G527A(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCATCGATGGCACCTTCTTC	0.602																																																1	Substitution - Missense(1)	kidney(1)											125	125	125					5																	133914214		2203	4300	6503	SO:0001583	missense	23338																														ENST00000282605.4:c.1712G>C	5.37:g.133914214G>C	ENSP00000282605:p.Gly571Ala			Missense_Mutation	SNP	ENST00000282605.4	37		.	.	.	.	.	.	.	.	.	.	g	12.94	2.087688	0.36855	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.47177	0.92;0.85;0.85	5.17	5.17	0.71159	.	0.255377	0.31461	N	0.007618	T	0.55097	0.1899	L	0.38175	1.15	0.40698	D	0.982458	P;P;D	0.62365	0.58;0.76;0.991	B;B;P	0.55923	0.184;0.269;0.787	T	0.57917	-0.7728	10	0.52906	T	0.07	.	18.677	0.91532	0.0:0.0:1.0:0.0	.	527;528;587	Q9NQC1;D3DQA3;B3KPL2	JADE2_HUMAN;.;.	A	571;587;571;528;528;527	ENSP00000282605:G571A;ENSP00000354425:G528A;ENSP00000378451:G527A	ENSP00000282605:G571A	G	+	2	0	PHF15	133942113	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.649000	0.67936	2.424000	0.82194	0.306000	0.20318	GGC		0.602	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			C	133914214	G	C	133914214	3	2	278	1	0	0	0	0	1	0	0	0	11828	1203	42	4	1618	4	PHF15	5	133914214	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	2208488	133914214	47001046	24	16622											
CATSPER3	347732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	134344575	134344575	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr5:134344575A>C	ENST00000282611.6	+	5	806	c.720A>C	c.(718-720)gaA>gaC	p.E240D		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	240					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.E240D(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAATCGGGAATTTGCTTTGA	0.537																																																1	Substitution - Missense(1)	kidney(1)											241	209	220					5																	134344575		2203	4300	6503	SO:0001583	missense	347732			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.720A>C	5.37:g.134344575A>C	ENSP00000282611:p.Glu240Asp		Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	A	5.817	0.334996	0.11013	.	.	ENSG00000152705	ENST00000282611	D	0.98550	-4.99	5.35	-10.7	0.00240	Ion transport (1);	0.925493	0.09164	N	0.839736	D	0.91676	0.7369	N	0.25332	0.735	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.82004	-0.0672	10	0.28530	T	0.3	-4.0508	1.5076	0.02489	0.2226:0.3214:0.2479:0.208	.	240	Q86XQ3	CTSR3_HUMAN	D	240	ENSP00000282611:E240D	ENSP00000282611:E240D	E	+	3	2	CATSPER3	134372474	0.001000	0.12720	0.000000	0.03702	0.096000	0.18686	-0.501000	0.06398	-2.352000	0.00616	-1.400000	0.01143	GAA		0.537	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		C	134344575	A	C	134344575	3	2	278	1	0	0	0	0	1	0	0	0	2691	98	4	5	738	5	CATSPER3	5	134344575	Missense_Mutation	SNP	A	TCGA-B8-5159-01A-01D-1421-08	430361	134344575	46570685	25	16623											
TRIM10	10107	hgsc.bcm.edu	37	6	30126177	30126177	+	Splice_Site	SNP	G	G	T	rs61735038	byFrequency	TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr6:30126177G>T	ENST00000449742.2	-	3	830	c.755C>A	c.(754-756)aCg>aAg	p.T252K	TRIM10_ENST00000376704.3_Splice_Site_p.T252K	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	252					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.T252K(1)		ovary(1)	1						AGGCCTCACCGTCAGGAGCTC	0.527																																																1	Substitution - Missense(1)	kidney(1)											144	162	155					6																	30126177		1511	2708	4219	SO:0001630	splice_region_variant	10107			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.756+1C>A	6.37:g.30126177G>T			A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	3.028	-0.200205	0.06219	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.04317	3.65;3.65	5.77	1.6	0.23607	.	0.229124	0.31199	N	0.008079	T	0.00906	0.0030	N	0.11698	0.16	0.34802	D	0.736781	B;B	0.17465	0.013;0.022	B;B	0.22601	0.01;0.04	T	0.46331	-0.9199	10	0.48119	T	0.1	.	3.7406	0.08528	0.2779:0.0:0.5158:0.2063	.	252;252	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	K	252	ENSP00000397073:T252K;ENSP00000365894:T252K	ENSP00000365894:T252K	T	-	2	0	TRIM10	30234156	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	0.786000	0.26844	0.371000	0.24564	0.643000	0.83706	ACG		0.527	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1		Missense_Mutation	T	30126177	G	T	30126177	5	4	278	1	0	0	0	0	0	0	1	0	16491	1159	40	4	798	4	TRIM10	6	30126177	Splice_Site	SNP	G	TCGA-B8-5159-01A-01D-1421-08		30126177	140988890	26	16624											
LAMA4	3910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	112575349	112575349	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr6:112575349C>G	ENST00000230538.7	-	2	401	c.4G>C	c.(4-6)Gct>Cct	p.A2P	LAMA4_ENST00000424408.2_Missense_Mutation_p.A2P|RP11-506B6.6_ENST00000585504.1_RNA|LAMA4_ENST00000368638.4_Missense_Mutation_p.A2P|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.A2P|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000453937.2_Missense_Mutation_p.A2P|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000431543.2_Missense_Mutation_p.A2P|RP11-506B6.6_ENST00000433684.3_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.A2P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	2					blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.A2P(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGCTCAAAGCCATTTCTCCG	0.642																																																2	Substitution - Missense(2)	kidney(2)											23	20	21					6																	112575349		2176	4282	6458	SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4G>C	6.37:g.112575349C>G	ENSP00000230538:p.Ala2Pro		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871462	0.51695	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639;ENST00000519932;ENST00000431543;ENST00000243219;ENST00000521690;ENST00000368638;ENST00000453937;ENST00000455073	T;T;T;T;T;T;T	0.57107	2.4;2.38;2.38;2.38;1.46;0.6;0.42	4.42	3.55	0.40652	.	0.394839	0.19777	N	0.106311	T	0.40595	0.1123	N	0.19112	0.55	0.23101	N	0.998292	D;D;P;P	0.76494	0.999;0.999;0.567;0.693	D;D;B;B	0.69479	0.964;0.93;0.216;0.387	T	0.32402	-0.9908	10	0.66056	D	0.02	.	10.85	0.46765	0.0:0.9104:0.0:0.0896	.	2;2;2;2	Q16363-3;Q6LET9;Q16363;Q16363-2	.;.;LAMA4_HUMAN;.	P	2	ENSP00000230538:A2P;ENSP00000429488:A2P;ENSP00000374114:A2P;ENSP00000416470:A2P;ENSP00000430336:A2P;ENSP00000428583:A2P;ENSP00000412136:A2P	ENSP00000230538:A2P	A	-	1	0	LAMA4	112682042	1.000000	0.71417	0.973000	0.42090	0.079000	0.17450	2.133000	0.42093	0.982000	0.38575	0.460000	0.39030	GCT		0.642	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		G	112575349	C	G	112575349	3	3	278	1	0	0	0	0	1	0	0	0	8610	739	26	4	5787	4	LAMA4	6	112575349	Missense_Mutation	SNP	C	TCGA-B8-5159-01A-01D-1421-08	82449172	112575349	58539718	27	16625											
TSGA14	95681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	130044447	130044447	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr7:130044447T>C	ENST00000223208.5	-	6	650	c.380A>G	c.(379-381)aAc>aGc	p.N127S	CEP41_ENST00000343969.5_Missense_Mutation_p.N127S|CEP41_ENST00000541543.1_Missense_Mutation_p.N111S	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	127					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)		p.N127S(1)									TCCTGCGTTGTTTATGAACTG	0.493																																																1	Substitution - Missense(1)	kidney(1)											98	94	95					7																	130044447		2203	4300	6503	SO:0001583	missense	0			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.380A>G	7.37:g.130044447T>C	ENSP00000223208:p.Asn127Ser		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	T	7.997	0.754668	0.15778	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282	D;D;D;D;D;D;D	0.88741	-2.42;-2.08;-2.4;-2.06;-2.06;-2.07;-1.67	5.35	1.59	0.23543	Rhodanese-like (1);	0.335280	0.39475	N	0.001356	T	0.78672	0.4320	L	0.31294	0.92	0.31955	N	0.609164	B;B;B	0.25904	0.137;0.016;0.001	B;B;B	0.28011	0.085;0.006;0.001	T	0.69068	-0.5243	10	0.20046	T	0.44	-16.041	5.9239	0.19099	0.0:0.1607:0.1431:0.6962	.	111;127;127	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	S	127;111;127;92;92;124;92	ENSP00000223208:N127S;ENSP00000445888:N111S;ENSP00000342738:N127S;ENSP00000419192:N92S;ENSP00000417593:N92S;ENSP00000420670:N124S;ENSP00000418363:N92S	ENSP00000223208:N127S	N	-	2	0	TSGA14	129831683	0.999000	0.42202	0.691000	0.30163	0.335000	0.28730	1.568000	0.36418	0.406000	0.25560	0.460000	0.39030	AAC		0.493	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		C	130044447	T	C	130044447	3	2	278	1	0	0	0	0	1	0	0	0	16625	1725	60	3	765	3	TSGA14	7	130044447	Missense_Mutation	SNP	T	TCGA-B8-5159-01A-01D-1421-08		130044447	29094216	28	16626											
RP1	6101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	55533660	55533660	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr8:55533660A>C	ENST00000220676.1	+	2	282	c.134A>C	c.(133-135)gAc>gCc	p.D45A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	45	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.D45A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGAGCGGAGACCCCCAATTC	0.537																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	kidney(1)											105	94	98					8																	55533660		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.134A>C	8.37:g.55533660A>C	ENSP00000220676:p.Asp45Ala			Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.549862	0.86127	.	.	ENSG00000104237	ENST00000220676	D	0.90133	-2.62	5.34	5.34	0.76211	Doublecortin domain (4);	0.000000	0.64402	D	0.000007	D	0.96617	0.8896	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97758	1.0219	10	0.87932	D	0	-15.693	15.3208	0.74120	1.0:0.0:0.0:0.0	.	45	P56715	RP1_HUMAN	A	45	ENSP00000220676:D45A	ENSP00000220676:D45A	D	+	2	0	RP1	55696213	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.265000	0.95647	2.021000	0.59480	0.528000	0.53228	GAC		0.537	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		C	55533660	A	C	55533660	3	2	278	1	0	0	0	0	1	0	0	0	13538	275	10	5	136	5	RP1	8	55533660	Missense_Mutation	SNP	A	TCGA-B8-5159-01A-01D-1421-08		55533660	90830362	29	16627											
ZFAT	57623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	135524782	135524782	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr8:135524782T>G	ENST00000377838.3	-	14	3471	c.3297A>C	c.(3295-3297)gaA>gaC	p.E1099D	ZFAT_ENST00000520727.1_Missense_Mutation_p.E1087D|ZFAT_ENST00000429442.2_Missense_Mutation_p.E1087D|ZFAT_ENST00000520214.1_Missense_Mutation_p.E1087D|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.E1037D	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1099					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E1099D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTGAACGTCTTCTTCGGCCT	0.527																																																1	Substitution - Missense(1)	kidney(1)											160	169	166					8																	135524782		1991	4161	6152	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3297A>C	8.37:g.135524782T>G	ENSP00000367069:p.Glu1099Asp		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.452881	0.26161	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T	0.11385	2.84;2.78;2.84;2.84;2.86	4.23	-1.32	0.09201	.	0.443117	0.24544	N	0.037604	T	0.06735	0.0172	N	0.24115	0.695	0.33781	D	0.62421	P;P;P	0.45957	0.665;0.817;0.869	B;B;B	0.41271	0.169;0.3;0.352	T	0.32455	-0.9906	10	0.45353	T	0.12	-29.0559	9.5643	0.39389	0.0:0.2473:0.0:0.7527	.	218;1037;1099	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	D	1087;1087;1099;1087;986;1037	ENSP00000427831:E1087D;ENSP00000394501:E1087D;ENSP00000367069:E1099D;ENSP00000428483:E1087D;ENSP00000429091:E1037D	ENSP00000326997:E986D	E	-	3	2	ZFAT	135593964	0.996000	0.38824	0.740000	0.30986	0.192000	0.23643	0.152000	0.16302	-0.135000	0.11495	0.460000	0.39030	GAA		0.527	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		G	135524782	T	G	135524782	3	3	278	1	0	0	0	0	1	0	0	0	17637	1606	56	5	446	5	ZFAT	8	135524782	Missense_Mutation	SNP	T	TCGA-B8-5159-01A-01D-1421-08	79991122	135524782	10839240	30	16628											
ZBTB5	9925	broad.mit.edu;ucsc.edu	37	9	37441467	37441467	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr9:37441467A>C	ENST00000307750.4	-	2	1270	c.1082T>G	c.(1081-1083)gTt>gGt	p.V361G		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V361G(1)		NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACTGACCACAACTCCTTCCAC	0.517																																																1	Substitution - Missense(1)	kidney(1)											86	77	80					9																	37441467		2203	4300	6503	SO:0001583	missense	9925			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1082T>G	9.37:g.37441467A>C	ENSP00000307604:p.Val361Gly			Missense_Mutation	SNP	ENST00000307750.4	37	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	A	2.599	-0.293451	0.05568	.	.	ENSG00000168795	ENST00000307750	T	0.08370	3.1	5.49	4.35	0.52113	.	0.270556	0.34133	N	0.004221	T	0.03827	0.0108	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	10	0.21014	T	0.42	.	11.8928	0.52638	0.7912:0.2088:0.0:0.0	.	361	O15062	ZBTB5_HUMAN	G	361	ENSP00000307604:V361G	ENSP00000307604:V361G	V	-	2	0	ZBTB5	37431467	0.995000	0.38212	0.997000	0.53966	0.997000	0.91878	2.891000	0.48617	2.311000	0.77944	0.533000	0.62120	GTT		0.517	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		C	37441467	A	C	37441467	3	2	278	1	0	0	0	0	1	0	0	0	17556	43	2	5	955	5	ZBTB5	9	37441467	Missense_Mutation	SNP	A	TCGA-B8-5159-01A-01D-1421-08		37441467	103771964	31	16629											
KIAA0913	23053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75553698	75553698	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr10:75553698T>G	ENST00000605216.1	+	12	2738	c.2521T>G	c.(2521-2523)Ttg>Gtg	p.L841V	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.L841V|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.L841V|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.L841V|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.L808V	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	841							zinc ion binding (GO:0008270)	p.L841V(2)|p.L221V(1)									GGCCTTCCTGTTGACAGTGCT	0.557																																																3	Substitution - Missense(3)	kidney(3)											73	78	77					10																	75553698		2073	4198	6271	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2521T>G	10.37:g.75553698T>G	ENSP00000474748:p.Leu841Val		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	14.93|14.93|14.93	2.681862|2.681862|2.681862	0.47991|0.47991|0.47991	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000431225;ENST00000412198;ENST00000425051|ENST00000398706|ENST00000433366	.|T|.	.|0.47869|.	.|0.83|.	5.31|5.31|5.31	-0.929|-0.929|-0.929	0.10444|0.10444|0.10444	.|.|.	.|0.000000|.	.|0.46758|.	.|U|.	.|0.000271|.	T|T|T	0.44286|0.44286|0.44286	0.1286|0.1286|0.1286	L|L|L	0.32530|0.32530|0.32530	0.975|0.975|0.975	0.36951|0.36951|0.36951	D|D|D	0.892879|0.892879|0.892879	.|P;P;P;P|.	.|0.50943|.	.|0.94;0.94;0.94;0.94|.	.|P;P;P;P|.	.|0.47981|.	.|0.563;0.563;0.563;0.563|.	T|T|T	0.42258|0.42258|0.42258	-0.9462|-0.9462|-0.9462	5|10|5	.|0.27082|.	.|T|.	.|0.32|.	-3.2749|-3.2749|-3.2749	10.8447|10.8447|10.8447	0.46737|0.46737|0.46737	0.0:0.4492:0.0:0.5508|0.0:0.4492:0.0:0.5508|0.0:0.4492:0.0:0.5508	.|.|.	.|841;841;841;841|.	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	.|K0913_HUMAN;.;.;.|.	W|V|G	337;110;19|841|556	.|ENSP00000381693:L841V|.	.|ENSP00000381693:L841V|.	C|L|V	+|+|+	3|1|2	2|2|0	KIAA0913|KIAA0913|KIAA0913	75223704|75223704|75223704	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.974000|0.974000|0.974000	0.42286|0.42286|0.42286	0.880000|0.880000|0.880000	0.50808|0.50808|0.50808	1.931000|1.931000|1.931000	0.40134|0.40134|0.40134	-0.068000|-0.068000|-0.068000	0.12953|0.12953|0.12953	0.455000|0.455000|0.455000	0.32223|0.32223|0.32223	TGT|TTG|GTT		0.557	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		G	75553698	T	G	75553698	3	3	278	1	0	0	0	0	1	0	0	0	8202	1722	60	5	2567	5	KIAA0913	10	75553698	Missense_Mutation	SNP	T	TCGA-B8-5159-01A-01D-1421-08		75553698	59981049	32	16630											
SMC3	9126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	112341762	112341762	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr10:112341762T>C	ENST00000361804.4	+	9	755	c.629T>C	c.(628-630)cTa>cCa	p.L210P	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	210					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.L210P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGGAAGAACTAGCTCAGTAT	0.378																																																2	Substitution - Missense(2)	kidney(2)											120	126	124					10																	112341762		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.629T>C	10.37:g.112341762T>C	ENSP00000354720:p.Leu210Pro		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609972	0.87258	.	.	ENSG00000108055	ENST00000361804	D	0.92199	-2.99	5.51	5.51	0.81932	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98038	1.0380	10	0.72032	D	0.01	.	15.6114	0.76721	0.0:0.0:0.0:1.0	.	210	Q9UQE7	SMC3_HUMAN	P	210	ENSP00000354720:L210P	ENSP00000354720:L210P	L	+	2	0	SMC3	112331752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.639000	0.83342	2.086000	0.62901	0.482000	0.46254	CTA		0.378	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		C	112341762	T	C	112341762	3	2	278	1	0	0	0	0	1	0	0	0	14790	1522	53	3	663	3	SMC3	10	112341762	Missense_Mutation	SNP	T	TCGA-B8-5159-01A-01D-1421-08	36788064	112341762	23192985	33	16631											
MICALCL	84953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	12315780	12315780	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr11:12315780T>A	ENST00000256186.2	+	3	1093	c.802T>A	c.(802-804)Tcc>Acc	p.S268T		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	268					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.S268T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCCACCCAAGTCCCCACTGCG	0.617																																																1	Substitution - Missense(1)	kidney(1)											37	40	39					11																	12315780		1938	4129	6067	SO:0001583	missense	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.802T>A	11.37:g.12315780T>A	ENSP00000256186:p.Ser268Thr		Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970070	0.53614	.	.	ENSG00000133808	ENST00000256186	T	0.21191	2.02	5.56	5.56	0.83823	.	0.000000	0.47455	D	0.000227	T	0.44787	0.1310	M	0.70275	2.135	0.34862	D	0.742752	D	0.89917	1.0	D	0.83275	0.996	T	0.60546	-0.7242	10	0.66056	D	0.02	.	12.0852	0.53693	0.0:0.0:0.0:1.0	.	268	Q6ZW33	MICLK_HUMAN	T	268	ENSP00000256186:S268T	ENSP00000256186:S268T	S	+	1	0	MICALCL	12272356	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	4.420000	0.59841	2.105000	0.64084	0.455000	0.32223	TCC		0.617	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		A	12315780	T	A	12315780	3	1	278	1	0	0	0	0	1	0	0	0	9574	1667	58	5	808	5	MICALCL	11	12315780	Missense_Mutation	SNP	T	TCGA-B8-5159-01A-01D-1421-08		12315780	122690736	34	16632											
MRGPRX4	117196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18194921	18194921	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr11:18194921G>T	ENST00000314254.3	+	1	538	c.118G>T	c.(118-120)Gtc>Ttc	p.V40F	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V40F(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CATTTCCCTTGTCGGACTGAC	0.552																																																1	Substitution - Missense(1)	kidney(1)											166	149	155					11																	18194921		2199	4293	6492	SO:0001583	missense	117196			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.118G>T	11.37:g.18194921G>T	ENSP00000314042:p.Val40Phe		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	9.058	0.993767	0.19043	.	.	ENSG00000179817	ENST00000314254	T	0.09445	2.98	2.95	0.917	0.19380	.	1.941220	0.02516	N	0.092017	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	P	0.35628	0.513	B	0.34418	0.182	T	0.26538	-1.0100	10	0.54805	T	0.06	.	5.5461	0.17065	0.0:0.1962:0.4029:0.4009	.	40	Q96LA9	MRGX4_HUMAN	F	40	ENSP00000314042:V40F	ENSP00000314042:V40F	V	+	1	0	MRGPRX4	18151497	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.206000	0.09398	0.110000	0.17919	-0.287000	0.09952	GTC		0.552	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		T	18194921	G	T	18194921	3	4	278	1	0	0	0	0	1	0	0	0	9771	1377	48	4	120	4	MRGPRX4	11	18194921	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	5879141	18194921	116811595	35	16633											
DHCR7	1717	broad.mit.edu;hgsc.bcm.edu	37	11	71153366	71153366	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr11:71153366G>C	ENST00000355527.3	-	5	631	c.355C>G	c.(355-357)Cat>Gat	p.H119D	DHCR7_ENST00000407721.2_Missense_Mutation_p.H119D	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	119			H -> L (in SLOS; dbSNP:rs28938174). {ECO:0000269|PubMed:11427181, ECO:0000269|PubMed:9683613}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.H119D(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						AGAAACTTATGGCAGAAGTCA	0.612									Smith-Lemli-Opitz syndrome																																							2	Substitution - Missense(2)	kidney(2)	GRCh37	CD051731	DHCR7	D							81	75	77					11																	71153366		2200	4294	6494	SO:0001583	missense	1717	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.355C>G	11.37:g.71153366G>C	ENSP00000347717:p.His119Asp		B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111737	0.56398	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316;ENST00000526780	D;D;D;D	0.97620	-4.46;-4.46;-4.0;-4.11	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.97907	0.9312	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.97712	1.0191	10	0.42905	T	0.14	-22.1607	13.7437	0.62862	0.0:0.0:1.0:0.0	.	119	Q9UBM7	DHCR7_HUMAN	D	119;119;131;87;119	ENSP00000384739:H119D;ENSP00000347717:H119D;ENSP00000435047:H87D;ENSP00000435668:H119D	ENSP00000347717:H119D	H	-	1	0	DHCR7	70831014	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	7.893000	0.87330	1.872000	0.54250	0.448000	0.29417	CAT		0.612	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		C	71153366	G	C	71153366	3	2	278	1	0	0	0	0	1	0	0	0	4479	1348	47	4	1092	4	DHCR7	11	71153366	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	52958445	71153366	63853150	36	16634											
TYR	7299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	88911150	88911151	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr11:88911150_88911151insA	ENST00000263321.5	+	1	531_532	c.29_30insA	c.(28-33)ctgtggfs	p.W11fs	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	11					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TACTGCCTGCTGTGGAGTTTCC	0.525																																																0																																										SO:0001589	frameshift_variant	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	Exception_encountered	11.37:g.88911150_88911151insA	ENSP00000263321:p.Trp11fs		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Frame_Shift_Ins	INS	ENST00000263321.5	37	CCDS8284.1																																																																																				0.525	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		A	88911151	-	A	88911150	7	5	278	1	0	1	1	0	0	0	0	0	16818	1580	55	0	31	0	TYR	11	88911150	Frame_Shift_Ins	INS	-	TCGA-B8-5159-01A-01D-1421-08	17757784	88911150	46095366	37	16635											
PPFIBP1	8496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	27835400	27835400	+	Silent	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:27835400T>C	ENST00000318304.8	+	22	2428	c.2145T>C	c.(2143-2145)aaT>aaC	p.N715N	PPFIBP1_ENST00000537927.1_Silent_p.N562N|PPFIBP1_ENST00000228425.6_Silent_p.N709N|PPFIBP1_ENST00000542629.1_Silent_p.N684N	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	715					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.N715N(1)|p.N709N(1)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AAGAAACCAATCATGGGAAGC	0.353																																																2	Substitution - coding silent(2)	kidney(2)											92	104	100					12																	27835400		2203	4300	6503	SO:0001819	synonymous_variant	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2145T>C	12.37:g.27835400T>C			O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	CCDS55812.1																																																																																				0.353	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		C	27835400	T	C	27835400	2	2	278	1	0	0	0	0	0	0	0	1	12315	1432	50	3		3	PPFIBP1	12	27835400	Silent	SNP	T	TCGA-B8-5159-01A-01D-1421-08		27835400	106016495	38	16636											
NACA	4666	broad.mit.edu;hgsc.bcm.edu	37	12	57110097	57110097	+	Silent	SNP	G	G	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:57110097G>A	ENST00000454682.1	-	3	5498	c.5217C>T	c.(5215-5217)ctC>ctT	p.L1739L	NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1739	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTGAACAGGGAGTAGAGGGG	0.517			T	BCL6	NHL																																		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													169	158	161					12																	57110097		1568	3582	5150	SO:0001819	synonymous_variant	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5217C>T	12.37:g.57110097G>A				Silent	SNP	ENST00000454682.1	37																																																																																					0.517	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		A	57110097	G	A	57110097	2	1	278	1	0	0	0	0	0	0	0	1	10135	1161	41	2		2	NACA	12	57110097	Silent	SNP	G	TCGA-B8-5159-01A-01D-1421-08	29274697	57110097	76741798	39	16637											
NEDD1	121441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	97303613	97303613	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:97303613G>C	ENST00000266742.4	+	3	415	c.76G>C	c.(76-78)Gat>Cat	p.D26H	NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000557644.1_Missense_Mutation_p.D33H|NEDD1_ENST00000429527.2_Missense_Mutation_p.D26H|NEDD1_ENST00000457368.2_5'Flank|NEDD1_ENST00000411739.2_Intron	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	26					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)		p.D26H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GACATTGGTGGATAAATTCAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											108	99	102					12																	97303613		2203	4300	6503	SO:0001583	missense	121441				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"WD repeat domain containing"	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.76G>C	12.37:g.97303613G>C	ENSP00000266742:p.Asp26His		B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953227	0.73902	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000554226;ENST00000557478;ENST00000557092;ENST00000557644	T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;5.09;1.65	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.094954	0.64402	D	0.000001	T	0.35913	0.0948	N	0.14661	0.345	0.80722	D	1	D;P	0.57571	0.98;0.855	P;P	0.58873	0.847;0.459	T	0.09058	-1.0692	10	0.25106	T	0.35	-0.0055	19.8344	0.96650	0.0:0.0:1.0:0.0	.	33;26	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	H	26;26;33;26;26;33	ENSP00000266742:D26H;ENSP00000404978:D26H;ENSP00000450881:D33H;ENSP00000451869:D26H;ENSP00000450757:D26H;ENSP00000451211:D33H	ENSP00000266742:D26H	D	+	1	0	NEDD1	95827744	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.712000	0.84684	2.696000	0.92011	0.561000	0.74099	GAT		0.368	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			C	97303613	G	C	97303613	3	2	278	1	0	0	0	0	1	0	0	0	10311	1174	41	4	103	4	NEDD1	12	97303613	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	40193516	97303613	36548282	40	16638											
CAMKK2	10645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121712085	121712085	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:121712085G>C	ENST00000324774.5	-	2	1073	c.245C>G	c.(244-246)cCc>cGc	p.P82R	CAMKK2_ENST00000337174.3_Missense_Mutation_p.P82R|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P82R|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P82R|CAMKK2_ENST00000392474.2_Missense_Mutation_p.P82R|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P82R|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P82R|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P82R|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P82R|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P82R	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	82					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)	p.P82R(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGTGTCAAGGGGGACCTCTTG	0.697																																																2	Substitution - Missense(2)	kidney(2)											21	25	24					12																	121712085		2200	4298	6498	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.245C>G	12.37:g.121712085G>C	ENSP00000312741:p.Pro82Arg		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	5.531	0.282826	0.10458	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473;ENST00000543477;ENST00000544485	D;D;D;D;D;D;D;D;D;T;T	0.84800	-1.73;-1.87;-1.65;-1.65;-1.9;-1.65;-1.9;-1.65;-1.63;0.42;0.64	5.09	4.2	0.49525	.	0.695480	0.13132	N	0.411367	T	0.72391	0.3454	L	0.27053	0.805	0.09310	N	1	P;B;B;P;B;B;B	0.37636	0.589;0.302;0.202;0.603;0.302;0.09;0.145	B;B;B;B;B;B;B	0.32465	0.076;0.117;0.048;0.146;0.101;0.047;0.101	T	0.63985	-0.6513	10	0.48119	T	0.1	-0.0259	4.9752	0.14136	0.2428:0.1576:0.5995:0.0	.	82;82;82;82;82;82;82	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	R	82;82;82;82;82;82;82;65;82;82;82;82	ENSP00000376266:P82R;ENSP00000321230:P82R;ENSP00000445944:P82R;ENSP00000336634:P82R;ENSP00000312741:P82R;ENSP00000388368:P82R;ENSP00000384600:P82R;ENSP00000388273:P82R;ENSP00000376265:P82R;ENSP00000444894:P82R;ENSP00000445400:P82R	ENSP00000312741:P82R	P	-	2	0	CAMKK2	120196468	0.896000	0.30565	0.034000	0.17996	0.059000	0.15707	2.216000	0.42871	1.283000	0.44513	0.462000	0.41574	CCC		0.697	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		C	121712085	G	C	121712085	3	2	278	1	0	0	0	0	1	0	0	0	2609	1232	43	4	1595	4	CAMKK2	12	121712085	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	24408472	121712085	12139810	41	16639											
ZCCHC8	55596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122962402	122962402	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:122962402A>G	ENST00000336229.4	-	13	1461	c.1331T>C	c.(1330-1332)aTg>aCg	p.M444T	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.M206T|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.M206T|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.M55T	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	444					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M444T(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATCGAGCTCCATGTCGGCGGG	0.468																																																1	Substitution - Missense(1)	kidney(1)											94	93	93					12																	122962402		1861	4098	5959	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1331T>C	12.37:g.122962402A>G	ENSP00000337313:p.Met444Thr		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	A	14.52	2.560576	0.45590	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892;ENST00000544054	T;T;T;T	0.56776	0.46;0.46;0.44;0.51	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	M	0.75264	2.295	0.80722	D	1	D	0.60160	0.987	D	0.66196	0.942	T	0.70923	-0.4740	10	0.39692	T	0.17	-23.8909	15.8243	0.78686	1.0:0.0:0.0:0.0	.	444	Q6NZY4	ZCHC8_HUMAN	T	206;206;444;55;55;206	ENSP00000441423:M206T;ENSP00000438993:M206T;ENSP00000337313:M444T;ENSP00000440028:M55T	ENSP00000337313:M444T	M	-	2	0	ZCCHC8	121528355	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	5.834000	0.69361	2.207000	0.71202	0.528000	0.53228	ATG		0.468	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		G	122962402	A	G	122962402	3	3	278	1	0	0	0	0	1	0	0	0	17599	217	8	3	800	3	ZCCHC8	12	122962402	Missense_Mutation	SNP	A	TCGA-B8-5159-01A-01D-1421-08	1250317	122962402	10889493	42	16640											
TMEM132B	114795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	126135244	126135244	+	Silent	SNP	C	C	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr12:126135244C>T	ENST00000299308.3	+	7	1652	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	TMEM132B_ENST00000535886.1_Silent_p.S60S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	548						integral component of membrane (GO:0016021)		p.S548S(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCGGGAAAGCGATGACGAGG	0.537																																																1	Substitution - coding silent(1)	kidney(1)											69	77	75					12																	126135244		2168	4288	6456	SO:0001819	synonymous_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1644C>T	12.37:g.126135244C>T			A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																				0.537	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		T	126135244	C	T	126135244	2	4	278	1	0	0	0	0	0	0	0	1	16051	767	27	1		1	TMEM132B	12	126135244	Silent	SNP	C	TCGA-B8-5159-01A-01D-1421-08	3172842	126135244	7716651	43	16641											
ELF1	1997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41525466	41525466	+	Splice_Site	SNP	T	T	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr13:41525466T>A	ENST00000239882.3	-	4	674	c.360A>T	c.(358-360)atA>atT	p.I120I	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Splice_Site_p.I120I	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	120					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I120I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		ATCACTCACTTATTCGTTTTT	0.353																																																1	Substitution - coding silent(1)	kidney(1)											90	84	86					13																	41525466		2203	4300	6503	SO:0001630	splice_region_variant	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.361+1A>T	13.37:g.41525466T>A			B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Silent	SNP	ENST00000239882.3	37	CCDS9374.1																																																																																				0.353	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373	Silent	A	41525466	T	A	41525466	5	1	278	1	0	0	0	0	0	0	1	0	5055	1768	61	5	1523	5	ELF1	13	41525466	Splice_Site	SNP	T	TCGA-B8-5159-01A-01D-1421-08		41525466	73644412	44	16642											
DCAF11	80344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24588354	24588354	+	Splice_Site	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr14:24588354G>C	ENST00000446197.3	+	9	1507	c.780G>C	c.(778-780)agG>agC	p.R260S	DCAF11_ENST00000396936.1_Splice_Site_p.R160S|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000559115.1_Splice_Site_p.R260S|DCAF11_ENST00000396941.4_Splice_Site_p.R234S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	260					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.R260S(1)									TTGCTTTTAGGCCAGATGAGC	0.463																																																1	Substitution - Missense(1)	kidney(1)											173	163	166					14																	24588354		2203	4300	6503	SO:0001630	splice_region_variant	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.780-1G>C	14.37:g.24588354G>C			B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	g	4.745	0.138537	0.09083	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.01279	5.06;5.06	5.53	3.72	0.42706	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.146358	0.64402	D	0.000008	T	0.00496	0.0016	N	0.00504	-1.425	0.40314	D	0.978756	B;B;B;B;B	0.17667	0.012;0.023;0.004;0.012;0.005	B;B;B;B;B	0.16289	0.01;0.015;0.008;0.003;0.004	T	0.51252	-0.8729	9	.	.	.	.	5.7446	0.18112	0.1687:0.16:0.6713:0.0	.	183;234;160;260;260	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	S	260;234;160;234	ENSP00000380142:R160S;ENSP00000380146:R234S	.	R	+	3	2	DCAF11	23658194	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.294000	0.33365	0.901000	0.36495	0.643000	0.83706	AGG		0.463	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		Missense_Mutation	C	24588354	G	C	24588354	5	2	278	1	0	0	0	0	0	0	1	0	4264	1217	42	4	810	4	DCAF11	14	24588354	Splice_Site	SNP	G	TCGA-B8-5159-01A-01D-1421-08		24588354	82761186	45	16643											
MAP4K5	11183	hgsc.bcm.edu;ucsc.edu	37	14	50904252	50904252	+	Splice_Site	SNP	T	T	G	rs10150701	byFrequency	TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr14:50904252T>G	ENST00000013125.4	-	25	2142	c.1824A>C	c.(1822-1824)agA>agC	p.R608S		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	608	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R608S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					AAGCGAATTTTCTGAAAACGT	0.343																																																1	Substitution - Missense(1)	kidney(1)											78	67	71					14																	50904252		1844	4108	5952	SO:0001630	splice_region_variant	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1824-1A>C	14.37:g.50904252T>G			Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37		.	.	.	.	.	.	.	.	.	.	T	16.23	3.063699	0.55432	.	.	ENSG00000012983	ENST00000013125	T	0.80653	-1.4	4.83	3.69	0.42338	Citron-like (3);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	M	0.86953	2.85	0.09310	P	0.99999864871	D;P	0.67145	0.996;0.896	D;B	0.63113	0.911;0.341	D	0.89386	0.3685	9	0.87932	D	0	.	4.5395	0.12050	0.0:0.2569:0.0:0.7431	.	608;608	B2R928;Q9Y4K4	.;M4K5_HUMAN	S	608	ENSP00000013125:R608S	ENSP00000013125:R608S	R	-	3	2	MAP4K5	49974002	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.032000	0.41127	1.811000	0.52892	0.377000	0.23210	AGA		0.343	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575	Missense_Mutation	G	50904252	T	G	50904252	5	3	278	1	0	0	0	0	0	0	1	0	9265	1797	62	5	748	5	MAP4K5	14	50904252	Splice_Site	SNP	T	TCGA-B8-5159-01A-01D-1421-08	26315898	50904252	56445288	46	16644											
YLPM1	56252	broad.mit.edu;ucsc.edu	37	14	75230551	75230551	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr14:75230551delA	ENST00000552421.1	+	1	483	c.359delA	c.(358-360)cagfs	p.Q122fs	YLPM1_ENST00000325680.7_Frame_Shift_Del_p.Q122fs|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.Q122fs			P49750	YLPM1_HUMAN	YLP motif containing 1	122	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TATCAGAAGCAGCAGCAGTAC	0.682																																																0													67	76	73					14																	75230551		1942	4131	6073	SO:0001589	frameshift_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.359delA	14.37:g.75230551delA	ENSP00000447921:p.Gln122fs		P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000552421.1	37																																																																																					0.682	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		-	75230551	A	-	75230551	7	5	278	1	0	1	0	1	0	0	0	0	17491	188	7	0	361	0	YLPM1	14	75230551	Frame_Shift_Del	DEL	A	TCGA-B8-5159-01A-01D-1421-08	24326299	75230551	32118989	47	16645											
GABRA5	2558	broad.mit.edu;hgsc.bcm.edu	37	15	27128585	27128585	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr15:27128585C>A	ENST00000335625.5	+	6	1266	c.378C>A	c.(376-378)agC>agA	p.S126R	GABRA5_ENST00000400081.3_Missense_Mutation_p.S126R|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.S126R|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	126					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S126R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TCCTTGCCAGCAAGATCTGGA	0.552																																																1	Substitution - Missense(1)	kidney(1)											88	98	94					15																	27128585		2198	4297	6495	SO:0001583	missense	2558				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.378C>A	15.37:g.27128585C>A	ENSP00000335592:p.Ser126Arg		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223860	0.79576	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.4	3.52	0.40303	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.64630	1.985	0.58432	D	0.999993	D	0.53151	0.958	D	0.65573	0.936	T	0.83233	-0.0062	10	0.52906	T	0.07	.	11.2478	0.49006	0.0:0.8516:0.0:0.1484	.	126	P31644	GBRA5_HUMAN	R	126;126;94;126;126;126	ENSP00000335592:S126R;ENSP00000347557:S126R;ENSP00000450653:S94R;ENSP00000382953:S126R;ENSP00000450806:S126R;ENSP00000450717:S126R	ENSP00000335592:S126R	S	+	3	2	GABRA5	24679678	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.005000	0.40864	0.768000	0.33290	0.561000	0.74099	AGC		0.552	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			A	27128585	C	A	27128585	3	1	278	1	0	0	0	0	1	0	0	0	6166	709	25	4	392	4	GABRA5	15	27128585	Missense_Mutation	SNP	C	TCGA-B8-5159-01A-01D-1421-08		27128585	75402807	48	16646											
WDR72	256764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	53957926	53957926	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr15:53957926A>T	ENST00000396328.1	-	14	2044	c.1805T>A	c.(1804-1806)aTt>aAt	p.I602N	WDR72_ENST00000559418.1_Missense_Mutation_p.I612N|WDR72_ENST00000557913.1_Missense_Mutation_p.I599N|WDR72_ENST00000360509.5_Missense_Mutation_p.I602N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	602								p.I602N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATTAAGAATAATTCGTGCTCT	0.388																																																1	Substitution - Missense(1)	kidney(1)											135	121	126					15																	53957926		2194	4293	6487	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1805T>A	15.37:g.53957926A>T	ENSP00000379619:p.Ile602Asn		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038859	0.55003	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.34859	1.34;1.34	5.57	2.07	0.26955	WD40 repeat-like-containing domain (1);	0.852017	0.10560	N	0.660445	T	0.25121	0.0610	L	0.27053	0.805	0.24843	N	0.992456	P	0.41748	0.761	B	0.41723	0.365	T	0.10800	-1.0614	10	0.26408	T	0.33	.	6.8271	0.23889	0.57:0.0:0.43:0.0	.	602	Q3MJ13	WDR72_HUMAN	N	602	ENSP00000379619:I602N;ENSP00000353699:I602N	ENSP00000353699:I602N	I	-	2	0	WDR72	51745218	0.793000	0.28825	0.744000	0.31058	0.993000	0.82548	1.602000	0.36783	0.418000	0.25898	0.460000	0.39030	ATT		0.388	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		T	53957926	A	T	53957926	3	4	278	1	0	0	0	0	1	0	0	0	17327	101	4	5	1531	5	WDR72	15	53957926	Missense_Mutation	SNP	A	TCGA-B8-5159-01A-01D-1421-08	26829341	53957926	48573466	49	16647											
ZNF592	9640	hgsc.bcm.edu;ucsc.edu	37	15	85326473	85326477	+	Frame_Shift_Del	DEL	TCCGG	TCCGG	-	rs372238385		TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	TCCGG	TCCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr15:85326473_85326477delTCCGG	ENST00000560079.2	+	4	855_859	c.567_571delTCCGG	c.(565-573)tttccggttfs	p.PV190fs	ZNF592_ENST00000299927.3_Frame_Shift_Del_p.PV190fs	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	190					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V191L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGCTAAGTTTCCGGTTCCAGAGCT	0.541																																																2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	9640			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.567_571delTCCGG	15.37:g.85326473_85326477delTCCGG	ENSP00000452877:p.Pro190fs		Q2M1T2|Q504Y9	Frame_Shift_Del	DEL	ENST00000560079.2	37	CCDS32317.1																																																																																				0.541	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		-	85326477	TCCGG	-	85326473	7	5	278	1	0	1	0	1	0	0	0	0	18027	1780	62	0	569	0	ZNF592	15	85326473	Frame_Shift_Del	DEL	TCCGG	TCGA-B8-5159-01A-01D-1421-08	31368547	85326473	17204919	50	16648											
KIAA0430	9665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15724209	15724210	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr16:15724209_15724210insG	ENST00000396368.3	-	7	1709_1710	c.1503_1504insC	c.(1501-1506)cccaggfs	p.R502fs	KIAA0430_ENST00000551742.1_Frame_Shift_Ins_p.R502fs|KIAA0430_ENST00000602337.1_Frame_Shift_Ins_p.R499fs|KIAA0430_ENST00000540441.2_Frame_Shift_Ins_p.R502fs|KIAA0430_ENST00000548025.1_Frame_Shift_Ins_p.R499fs|KIAA0430_ENST00000344181.3_Frame_Shift_Ins_p.R324fs	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	502					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGTGGTAACCTGGGGGGCAAGT	0.436																																																0																																										SO:0001589	frameshift_variant	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1504dupC	16.37:g.15724215_15724215dupG	ENSP00000379654:p.Arg502fs		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Ins	INS	ENST00000396368.3	37	CCDS10562.2																																																																																				0.436	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		G	15724210	-	G	15724209	7	5	278	1	0	1	1	0	0	0	0	0	8179	1579	55	0	3811	0	KIAA0430	16	15724209	Frame_Shift_Ins	INS	-	TCGA-B8-5159-01A-01D-1421-08		15724209	74630544	51	16649											
CNOT1	23019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58555184	58555184	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr16:58555184G>A	ENST00000317147.5	-	48	7287	c.6955C>T	c.(6955-6957)Cct>Tct	p.P2319S	CNOT1_ENST00000245138.4_Missense_Mutation_p.P1170S|CNOT1_ENST00000569240.1_Missense_Mutation_p.P2314S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2319					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.P2319S(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGACCCCAAGGATGTGGCCTA	0.388																																																1	Substitution - Missense(1)	kidney(1)											89	93	91					16																	58555184		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6955C>T	16.37:g.58555184G>A	ENSP00000320949:p.Pro2319Ser		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006122	0.93287	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138	T	0.73363	-0.74	5.91	5.91	0.95273	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91240	0.7239	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93251	0.6635	10	0.87932	D	0	-14.8605	19.2867	0.94077	0.0:0.0:1.0:0.0	.	1170;2319;2314	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	2319;1013;1170	ENSP00000320949:P2319S	ENSP00000245138:P1170S	P	-	1	0	CNOT1	57112685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.631000	0.98424	2.793000	0.96121	0.655000	0.94253	CCT		0.388	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		A	58555184	G	A	58555184	3	1	278	1	0	0	0	0	1	0	0	0	3619	1174	41	2	183	2	CNOT1	16	58555184	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	42830975	58555184	31799569	52	16650											
CMTM4	146223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66670397	66670397	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr16:66670397A>G	ENST00000330687.4	-	2	455	c.274T>C	c.(274-276)Tgc>Cgc	p.C92R	CMTM4_ENST00000394106.2_Missense_Mutation_p.C92R|CMTM4_ENST00000563952.1_Missense_Mutation_p.C63R	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	92	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.C92R(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		AACGCACTGCAGCTCACAAAC	0.478																																																1	Substitution - Missense(1)	kidney(1)											114	94	101					16																	66670397		2201	4300	6501	SO:0001583	missense	146223			AF479814	CCDS10817.1, CCDS42170.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000183723	ENSG00000183723			19175	protein-coding gene	gene with protein product		607887	"chemokine-like factor super family 4", "chemokine-like factor superfamily 4"	CKLFSF4		12782130	Standard	NM_178818		Approved		uc002epz.3	Q8IZR5	OTTHUMG00000137500	ENST00000330687.4:c.274T>C	16.37:g.66670397A>G	ENSP00000333833:p.Cys92Arg		Q52M40|Q8IZR4|Q8IZV1	Missense_Mutation	SNP	ENST00000330687.4	37	CCDS10817.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184433	0.78677	.	.	ENSG00000183723	ENST00000330687;ENST00000394106	T;T	0.25579	1.79;1.79	5.97	5.97	0.96955	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44697	-0.9311	10	0.72032	D	0.01	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	92	Q8IZR5	CKLF4_HUMAN	R	92	ENSP00000333833:C92R;ENSP00000377666:C92R	ENSP00000333833:C92R	C	-	1	0	CMTM4	65227898	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	8.874000	0.92363	2.288000	0.76882	0.533000	0.62120	TGC		0.478	CMTM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268807.1			G	66670397	A	G	66670397	3	3	278	1	0	0	0	0	1	0	0	0	3587	188	7	3	450	3	CMTM4	16	66670397	Missense_Mutation	SNP	A	TCGA-B8-5159-01A-01D-1421-08	8115213	66670397	23684356	53	16651											
MAPK7	5598	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	19284305	19284305	+	Silent	SNP	C	C	G			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr17:19284305C>G	ENST00000308406.5	+	4	1169	c.783C>G	c.(781-783)ctC>ctG	p.L261L	B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395602.4_Silent_p.L261L|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Silent_p.L261L|MAPK7_ENST00000299612.7_Silent_p.L122L|MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000477478.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	261	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.L261L(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GGCGCCAGCTCTTCCCAGGCA	0.572																																																1	Substitution - coding silent(1)	kidney(1)											39	39	39					17																	19284305		2203	4300	6503	SO:0001819	synonymous_variant	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.783C>G	17.37:g.19284305C>G			Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	37	CCDS11206.1																																																																																				0.572	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		G	19284305	C	G	19284305	2	3	278	1	0	0	0	0	0	0	0	1	9284	900	32	4		4	MAPK7	17	19284305	Silent	SNP	C	TCGA-B8-5159-01A-01D-1421-08		19284305	61910905	54	16652											
KRT36	8689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39643651	39643651	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr17:39643651T>A	ENST00000328119.6	-	5	938	c.939A>T	c.(937-939)agA>agT	p.R313S	KRT36_ENST00000393986.2_Missense_Mutation_p.R263S	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	313	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)	p.R313S(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGACCGTACGTCTCAGCTCGA	0.637																																																1	Substitution - Missense(1)	kidney(1)											76	55	62					17																	39643651		2203	4300	6503	SO:0001583	missense	8689			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.939A>T	17.37:g.39643651T>A	ENSP00000329165:p.Arg313Ser		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341095	0.81911	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.91843	-2.92;-2.92	5.95	4.88	0.63580	Filament (1);	0.114009	0.39544	N	0.001331	D	0.96018	0.8703	M	0.91459	3.21	0.35339	D	0.786353	D	0.67145	0.996	D	0.63113	0.911	D	0.98415	1.0574	10	0.87932	D	0	.	10.3989	0.44218	0.0:0.1353:0.0:0.8647	.	313	O76013	KRT36_HUMAN	S	263;313	ENSP00000377555:R263S;ENSP00000329165:R313S	ENSP00000329165:R313S	R	-	3	2	KRT36	36897177	0.996000	0.38824	1.000000	0.80357	0.924000	0.55760	0.313000	0.19415	1.079000	0.41038	0.533000	0.62120	AGA		0.637	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		A	39643651	T	A	39643651	3	1	278	1	0	0	0	0	1	0	0	0	8475	1664	58	5	476	5	KRT36	17	39643651	Missense_Mutation	SNP	T	TCGA-B8-5159-01A-01D-1421-08	20359346	39643651	41551559	55	16653											
NPHS1	4868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36340202	36340202	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chr19:36340202T>C	ENST00000378910.5	-	7	775	c.776A>G	c.(775-777)cAg>cGg	p.Q259R	NPHS1_ENST00000353632.6_Missense_Mutation_p.Q259R|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	259	Ig-like C2-type 3.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.Q259R(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAAGCTCTGTCCTGCCCG	0.652																																																1	Substitution - Missense(1)	kidney(1)											27	26	27					19																	36340202		2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.776A>G	19.37:g.36340202T>C	ENSP00000368190:p.Gln259Arg		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.682881	0.29872	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.86694	-2.16;-2.16	5.0	5.0	0.66597	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.475254	0.22959	N	0.053574	T	0.79616	0.4476	N	0.25380	0.74	0.22468	N	0.999078	B	0.17038	0.02	B	0.18871	0.023	T	0.70970	-0.4727	10	0.56958	D	0.05	-14.0107	11.0182	0.47703	0.0:0.0:0.0:1.0	.	259	O60500	NPHN_HUMAN	R	259	ENSP00000368190:Q259R;ENSP00000343634:Q259R	ENSP00000343634:Q259R	Q	-	2	0	NPHS1	41032042	0.425000	0.25498	0.998000	0.56505	0.497000	0.33675	2.564000	0.45931	2.106000	0.64143	0.482000	0.46254	CAG		0.652	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			C	36340202	T	C	36340202	3	2	278	1	0	0	0	0	1	0	0	0	10584	1580	55	3	3041	3	NPHS1	19	36340202	Missense_Mutation	SNP	T	TCGA-B8-5159-01A-01D-1421-08		36340202	22788781	56	16654											
AR	367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	66765719	66765719	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chrX:66765719C>T	ENST00000374690.3	+	1	1255	c.731C>T	c.(730-732)tCg>tTg	p.S244L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.S244L|AR_ENST00000504326.1_Missense_Mutation_p.S244L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	242	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S244L(1)|p.S54L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AAGGCAGTGTCGGTGTCCATG	0.597									Androgen Insensitivity Syndrome																																							2	Substitution - Missense(2)	kidney(2)											86	75	79					X																	66765719		2203	4300	6503	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.731C>T	X.37:g.66765719C>T	ENSP00000363822:p.Ser244Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.070400	0.76301	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95518	-3.73;-3.73;-3.73	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.93462	3.42	0.41971	D	0.990759	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.995;0.998;0.996	D	0.99636	1.0987	10	0.87932	D	0	.	14.2959	0.66314	0.0:1.0:0.0:0.0	.	244;244;242	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	54;244;244;244;236	ENSP00000363822:S244L;ENSP00000421155:S244L;ENSP00000379359:S244L	ENSP00000363822:S244L	S	+	2	0	AR	66682444	0.997000	0.39634	0.997000	0.53966	0.992000	0.81027	4.749000	0.62155	2.247000	0.74100	0.509000	0.49947	TCG		0.597	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765719	C	T	66765719	3	4	278	1	0	0	0	0	1	0	0	0	836	893	31	1	733	1	AR	23	66765719	Missense_Mutation	SNP	C	TCGA-B8-5159-01A-01D-1421-08		66765719	88504841	57	16655											
FOXO4	4303	broad.mit.edu	37	X	70320778	70320778	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chrX:70320778G>A	ENST00000374259.3	+	2	1030	c.698G>A	c.(697-699)gGc>gAc	p.G233D	FOXO4_ENST00000341558.3_Missense_Mutation_p.G178D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	233					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G233D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AGCCCTGTCGGCCACTTTGCC	0.592											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											27	28	27					X																	70320778		1986	4145	6131	SO:0001583	missense	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"Forkhead boxes"	7139	protein-coding gene	gene with protein product		300033	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.698G>A	X.37:g.70320778G>A	ENSP00000363377:p.Gly233Asp	1121	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	G	5.254	0.232307	0.09969	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95788	-3.59;-3.81	5.11	4.21	0.49690	.	0.971136	0.08542	N	0.930306	D	0.91499	0.7316	L	0.36672	1.1	0.41240	D	0.986638	B;B;B	0.27823	0.19;0.161;0.002	B;B;B	0.27608	0.081;0.073;0.004	D	0.84664	0.0708	10	0.32370	T	0.25	-22.0804	6.3005	0.21109	0.1106:0.3157:0.5738:0.0	.	233;178;233	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	D	233;178	ENSP00000363377:G233D;ENSP00000342209:G178D	ENSP00000342209:G178D	G	+	2	0	FOXO4	70237503	1.000000	0.71417	0.849000	0.33467	0.614000	0.37383	2.545000	0.45769	1.094000	0.41399	0.519000	0.50382	GGC		0.592	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		A	70320778	G	A	70320778	3	1	278	1	0	0	0	0	1	0	0	0	6027	1203	42	2	704	2	FOXO4	23	70320778	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	3555059	70320778	84949782	58	16656											
NXF2	728343	broad.mit.edu	37	X	101615563	101615563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chrX:101615563C>A	ENST00000372750.1	-	27	2639	c.1840G>T	c.(1840-1842)Gag>Tag	p.E614*	NXF2B_ENST00000372749.1_Nonsense_Mutation_p.E614*|NXF2B_ENST00000372752.1_3'UTR|NXF2B_ENST00000412230.2_Nonsense_Mutation_p.E614*|NXF2B_ENST00000457521.2_Nonsense_Mutation_p.E614*			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	614	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E614*(1)		breast(1)|kidney(1)|lung(4)|ovary(1)	7						ATCTTGCCCTCGGTCTAGAGA	0.507																																																1	Substitution - Nonsense(1)	kidney(1)											145	117	127					X																	101615563		1971	3284	5255	SO:0001587	stop_gained	728343				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.1840G>T	X.37:g.101615563C>A	ENSP00000361836:p.Glu614*		Q9BXU4|Q9NSS1|Q9NX66	Nonsense_Mutation	SNP	ENST00000372750.1	37	CCDS43979.1	.	.	.	.	.	.	.	.	.	.	.	19.38	3.815994	0.70912	.	.	ENSG00000185945	ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	.	.	.	2.73	-1.57	0.08506	.	1.091340	0.07325	U	0.878273	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-2.4389	3.4023	0.07328	0.0:0.3382:0.2101:0.4517	.	.	.	.	X	614	.	ENSP00000361835:E614X	E	-	1	0	NXF2B	101502219	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.049000	0.14099	-0.554000	0.06150	-0.323000	0.08544	GAG		0.507	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058979.1			A	101615563	C	A	101615563	4	1	278	1	0	0	0	0	0	1	0	0	10785	893	31	4	2009	4	NXF2	23	101615563	Nonsense_Mutation	SNP	C	TCGA-B8-5159-01A-01D-1421-08	31294785	101615563	53654997	59	16657											
ZNF185	7739	broad.mit.edu;hgsc.bcm.edu	37	X	152128271	152128271	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5159-01A-01D-1421-08	TCGA-B8-5159-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ed8a9be1-31c6-40e2-9af2-8abd80d00995	82ce0fc3-11dc-4fee-b6cf-3950e3bee733	g.chrX:152128271G>C	ENST00000370268.4	+	17	1472	c.1435G>C	c.(1435-1437)Gtg>Ctg	p.V479L	ZNF185_ENST00000539731.1_Missense_Mutation_p.V482L|ZNF185_ENST00000449285.2_Missense_Mutation_p.V480L|ZNF185_ENST00000318504.7_Missense_Mutation_p.V420L|ZNF185_ENST00000324823.6_Missense_Mutation_p.V247L|ZNF185_ENST00000535861.1_Missense_Mutation_p.V511L|ZNF185_ENST00000370270.2_Missense_Mutation_p.V511L|ZNF185_ENST00000454925.1_Missense_Mutation_p.V117L|ZNF185_ENST00000318529.8_Missense_Mutation_p.V258L			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	479						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.V242L(1)|p.V511L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAGGATGTGGCCACCAA	0.567																																																2	Substitution - Missense(2)	kidney(2)											54	54	54					X																	152128271		1997	4137	6134	SO:0001583	missense	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1435G>C	X.37:g.152128271G>C	ENSP00000359291:p.Val479Leu		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	CCDS48184.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	9.720|9.720|9.720	1.159532|1.159532|1.159532	0.21454|0.21454|0.21454	.|.|.	.|.|.	ENSG00000147394|ENSG00000147394|ENSG00000147394	ENST00000426821|ENST00000454925|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000436731	.|.|T;T;T;T;T	.|.|0.45276	.|.|0.91;0.9;0.91;0.91;0.91	3.58|3.58|3.58	0.779|0.779|0.779	0.18550|0.18550|0.18550	.|.|.	.|.|0.957996	.|.|0.08563	.|.|N	.|.|0.927318	T|T|T	0.34600|0.34600|0.34600	0.0903|0.0903|0.0903	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|.|B;B;B;B;B;B;B;B;B	.|.|0.30281	.|.|0.136;0.11;0.046;0.186;0.226;0.136;0.264;0.275;0.079	.|.|B;B;B;B;B;B;B;B;B	.|.|0.38264	.|.|0.044;0.029;0.028;0.063;0.044;0.04;0.269;0.067;0.06	T|T|T	0.41680|0.41680|0.41680	-0.9495|-0.9495|-0.9495	5|5|10	.|.|0.45353	.|.|T	.|.|0.12	-3.5208|-3.5208|-3.5208	5.7841|5.7841|5.7841	0.18322|0.18322|0.18322	0.3808:0.0:0.6192:0.0|0.3808:0.0:0.6192:0.0|0.3808:0.0:0.6192:0.0	.|.|.	.|.|480;420;450;482;511;479;117;258;242	.|.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2	.|.|.;.;.;.;.;ZN185_HUMAN;.;.;.	S|I|L	264|119|511;482;480;420;314;247;345;479;258;242;184	.|.|ENSP00000440847:V511L;ENSP00000444367:V482L;ENSP00000395228:V480L;ENSP00000312782:V420L;ENSP00000359291:V479L	.|.|ENSP00000312782:V420L	C|M|V	+|+|+	2|3|1	0|0|0	ZNF185|ZNF185|ZNF185	151878927|151878927|151878927	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.008000|0.008000|0.008000	0.06430|0.06430|0.06430	0.010000|0.010000|0.010000	0.13242|0.13242|0.13242	0.032000|0.032000|0.032000	0.15435|0.15435|0.15435	-1.122000|-1.122000|-1.122000	0.02009|0.02009|0.02009	TGT|ATG|GTG		0.567	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		C	152128271	G	C	152128271	3	2	278	1	0	0	0	0	1	0	0	0	17757	1377	48	4	1745	4	ZNF185	23	152128271	Missense_Mutation	SNP	G	TCGA-B8-5159-01A-01D-1421-08	50512708	152128271	3142289	60	16658											
UBR4	23352	broad.mit.edu	37	1	19407942	19407942	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:19407942A>G	ENST00000375254.3	-	103	15161	c.15134T>C	c.(15133-15135)aTc>aCc	p.I5045T	UBR4_ENST00000429347.2_Missense_Mutation_p.I568T|UBR4_ENST00000375225.3_Missense_Mutation_p.I120T|AL137127.1_ENST00000582644.1_RNA|UBR4_ENST00000375226.2_Missense_Mutation_p.I5021T|UBR4_ENST00000375267.2_Missense_Mutation_p.I5045T|UBR4_ENST00000375224.1_Missense_Mutation_p.I752T|UBR4_ENST00000375217.2_Missense_Mutation_p.I5038T|UBR4_ENST00000543981.1_Missense_Mutation_p.I709T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5045					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGGGGCAGGATGTGAAGGGC	0.592																																																0													151	154	153					1																	19407942		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15134T>C	1.37:g.19407942A>G	ENSP00000364403:p.Ile5045Thr		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.284853	0.40394	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.39	5.39	0.77823	.	0.164328	0.52532	D	0.000067	T	0.18425	0.0442	N	0.08118	0	0.58432	D	0.999996	B;B;B;B	0.26708	0.017;0.157;0.157;0.004	B;B;B;B	0.25759	0.042;0.038;0.063;0.015	T	0.07083	-1.0791	10	0.46703	T	0.11	.	14.521	0.67851	1.0:0.0:0.0:0.0	.	709;568;5045;5021	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	T	5045;5045;5038;5021;120;752;568;709	ENSP00000364403:I5045T;ENSP00000364416:I5045T;ENSP00000364365:I5038T;ENSP00000364374:I5021T;ENSP00000364373:I120T;ENSP00000364372:I752T;ENSP00000394173:I568T;ENSP00000444070:I709T	ENSP00000364365:I5038T	I	-	2	0	UBR4	19280529	1.000000	0.71417	0.987000	0.45799	0.213000	0.24496	8.853000	0.92222	2.170000	0.68504	0.379000	0.24179	ATC		0.592	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19407942	A	G	19407942	3	3	279	1	0	0	0	0	1	0	0	0	16909	333	12	3	433	3	UBR4	1	19407942	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08		19407942	229842679	1	16659											
USP1	7398	broad.mit.edu	37	1	62911028	62911028	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:62911028G>C	ENST00000339950.4	+	6	1992	c.1177G>C	c.(1177-1179)Ggt>Cgt	p.G393R	USP1_ENST00000371146.1_Missense_Mutation_p.G393R	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	393	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CACAACTAATGGTTGTGGACT	0.343																																					Ovarian(122;1846 2315 3982 19504)											0													38	41	40					1																	62911028		2201	4296	6497	SO:0001583	missense	7398				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1177G>C	1.37:g.62911028G>C	ENSP00000343526:p.Gly393Arg		A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	CCDS621.1	.	.	.	.	.	.	.	.	.	.	G	1.803	-0.476560	0.04414	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.18810	2.19;2.19	4.89	3.9	0.45041	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.917366	0.09395	N	0.808048	T	0.15349	0.0370	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.23852	0.049	T	0.07947	-1.0746	10	0.07813	T	0.8	-0.0015	15.8449	0.78879	0.0:0.0:0.8044:0.1956	.	393	O94782	UBP1_HUMAN	R	393	ENSP00000360188:G393R;ENSP00000343526:G393R	ENSP00000343526:G393R	G	+	1	0	USP1	62683616	0.934000	0.31675	0.437000	0.26809	0.027000	0.11550	1.886000	0.39688	2.528000	0.85240	0.603000	0.83216	GGT		0.343	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		C	62911028	G	C	62911028	3	2	279	1	0	0	0	0	1	0	0	0	17045	1348	47	4	1195	4	USP1	1	62911028	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	43503086	62911028	186339593	2	16660											
SYT6	148281	broad.mit.edu	37	1	114680517	114680517	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:114680517G>C	ENST00000610222.1	-	3	817	c.671C>G	c.(670-672)tCt>tGt	p.S224C	SYT6_ENST00000607941.1_Missense_Mutation_p.S139C|SYT6_ENST00000393296.1_Missense_Mutation_p.S224C|SYT6_ENST00000609117.1_Missense_Mutation_p.S139C|SYT6_ENST00000369547.1_Missense_Mutation_p.S139C			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	224					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGGCCTCAGACTTGGCATC	0.567																																																0													135	115	122					1																	114680517		2203	4300	6503	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.671C>G	1.37:g.114680517G>C	ENSP00000476396:p.Ser224Cys		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37		.	.	.	.	.	.	.	.	.	.	G	16.15	3.040257	0.55003	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.56	4.58	0.56647	C2 calcium/lipid-binding domain, CaLB (1);	0.273795	0.39475	N	0.001345	T	0.03959	0.0111	L	0.42245	1.32	0.41501	D	0.98828	B	0.06786	0.001	B	0.08055	0.003	T	0.11665	-1.0578	10	0.62326	D	0.03	.	11.1105	0.48230	0.0:0.0:0.5918:0.4082	.	224	Q5T7P8	SYT6_HUMAN	C	139;224;139;224	ENSP00000358560:S139C;ENSP00000376974:S224C;ENSP00000358559:S139C;ENSP00000358558:S224C	ENSP00000358558:S224C	S	-	2	0	SYT6	114482040	1.000000	0.71417	0.919000	0.36401	0.989000	0.77384	4.703000	0.61824	2.620000	0.88729	0.655000	0.94253	TCT		0.567	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		C	114680517	G	C	114680517	3	2	279	1	0	0	0	0	1	0	0	0	15483	942	33	4	881	4	SYT6	1	114680517	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	51769489	114680517	134570104	3	16661											
RPRD2	23248	broad.mit.edu	37	1	150445505	150445505	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:150445505G>T	ENST00000369068.4	+	11	4085	c.4081G>T	c.(4081-4083)Ggc>Tgc	p.G1361C	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.G1335C	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1361	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAACGGCCCTGGCCTTAGCCG	0.647																																																0													30	34	33					1																	150445505		1929	4116	6045	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4081G>T	1.37:g.150445505G>T	ENSP00000358064:p.Gly1361Cys		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779485	0.49891	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.48201	0.83;0.82	4.43	4.43	0.53597	.	0.283430	0.30374	N	0.009768	T	0.26376	0.0644	L	0.27053	0.805	0.80722	D	1	D;D	0.61697	0.983;0.99	B;P	0.50192	0.431;0.634	T	0.27536	-1.0071	10	0.72032	D	0.01	-7.8799	4.6558	0.12617	0.1767:0.1939:0.6295:0.0	.	1361;1335	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	C	1335;1361	ENSP00000383785:G1335C;ENSP00000358064:G1361C	ENSP00000358064:G1361C	G	+	1	0	RPRD2	148712129	0.798000	0.28890	1.000000	0.80357	0.989000	0.77384	0.894000	0.28350	2.289000	0.77006	0.650000	0.86243	GGC		0.647	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		T	150445505	G	T	150445505	3	4	279	1	0	0	0	0	1	0	0	0	13623	1348	47	4	4123	4	RPRD2	1	150445505	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	35764988	150445505	98805116	4	16662											
INSRR	3645	broad.mit.edu	37	1	156823587	156823587	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:156823587C>T	ENST00000368195.3	-	2	990	c.594G>A	c.(592-594)ggG>ggA	p.G198G	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	198					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTCAGTGTGCCCGCTGAAGG	0.612																																																0													65	58	60					1																	156823587		2203	4300	6503	SO:0001819	synonymous_variant	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.594G>A	1.37:g.156823587C>T			O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	CCDS1160.1																																																																																				0.612	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		T	156823587	C	T	156823587	2	4	279	1	0	0	0	0	0	0	0	1	7776	726	26	2		2	INSRR	1	156823587	Silent	SNP	C	TCGA-B8-5162-01A-01D-1421-08	6378082	156823587	92427034	5	16663											
DARS2	55157	broad.mit.edu	37	1	173826679	173826679	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:173826679G>C	ENST00000361951.4	+	17	2501	c.1774G>C	c.(1774-1776)Gtc>Ctc	p.V592L	DARS2_ENST00000239457.5_Missense_Mutation_p.V137L|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	592					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GATATGCCTTGTCACTGGATC	0.408																																																0													130	121	124					1																	173826679		2203	4300	6503	SO:0001583	missense	55157			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	25538	protein-coding gene	gene with protein product	"aspartate tRNA ligase 2, mitochondrial"	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1774G>C	1.37:g.173826679G>C	ENSP00000355086:p.Val592Leu			Missense_Mutation	SNP	ENST00000361951.4	37	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	5.234	0.228682	0.09916	.	.	ENSG00000117593	ENST00000361951;ENST00000239457	T;T	0.74526	-0.85;-0.85	5.78	-2.85	0.05734	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.375222	0.30383	N	0.009759	T	0.13756	0.0333	N	0.00268	-1.735	0.38770	D	0.954536	B	0.09022	0.002	B	0.16722	0.016	T	0.26780	-1.0093	10	0.07990	T	0.79	-3.9032	12.5896	0.56436	0.68:0.0:0.32:0.0	.	592	Q6PI48	SYDM_HUMAN	L	592;137	ENSP00000355086:V592L;ENSP00000239457:V137L	ENSP00000239457:V137L	V	+	1	0	DARS2	172093302	0.995000	0.38212	0.972000	0.41901	0.906000	0.53458	0.615000	0.24329	-0.324000	0.08589	-0.145000	0.13849	GTC		0.408	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		C	173826679	G	C	173826679	3	2	279	1	0	0	0	0	1	0	0	0	4244	1377	48	4	1840	4	DARS2	1	173826679	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	17003092	173826679	75423942	6	16664											
LAMC1	3915	broad.mit.edu	37	1	183093844	183093844	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:183093844T>A	ENST00000258341.4	+	14	2737	c.2480T>A	c.(2479-2481)cTg>cAg	p.L827Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	827	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTTTGCCGCCTGTGCCAGTGC	0.507																																																0													121	109	113					1																	183093844		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2480T>A	1.37:g.183093844T>A	ENSP00000258341:p.Leu827Gln		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	T	6.502	0.460766	0.12342	.	.	ENSG00000135862	ENST00000258341	T	0.63255	-0.03	5.51	-5.87	0.02297	EGF-like, laminin (2);	1.126930	0.06482	N	0.732993	T	0.28433	0.0703	N	0.03608	-0.345	0.09310	N	1	B	0.25955	0.138	B	0.19946	0.027	T	0.11251	-1.0595	10	0.32370	T	0.25	.	2.2759	0.04102	0.1691:0.336:0.0987:0.3962	.	827	P11047	LAMC1_HUMAN	Q	827	ENSP00000258341:L827Q	ENSP00000258341:L827Q	L	+	2	0	LAMC1	181360467	0.000000	0.05858	0.167000	0.22817	0.462000	0.32619	-0.174000	0.09839	-0.408000	0.07565	-0.263000	0.10527	CTG		0.507	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		A	183093844	T	A	183093844	3	1	279	1	0	0	0	0	1	0	0	0	8616	1580	55	5	2534	5	LAMC1	1	183093844	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	9267165	183093844	66156777	7	16665											
MAPKAPK2	9261	broad.mit.edu	37	1	206905036	206905036	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr1:206905036C>A	ENST00000367103.3	+	8	1137	c.944C>A	c.(943-945)aCc>aAc	p.T315N	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.T315N|MAPKAPK2_ENST00000479009.1_3'UTR	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CAGAGAATGACCATCACCGAG	0.562																																																0													138	137	137					1																	206905036		2203	4300	6503	SO:0001583	missense	9261			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.944C>A	1.37:g.206905036C>A	ENSP00000356070:p.Thr315Asn		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831139	0.91036	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.55413	0.52;0.52	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.56156	0.1966	L	0.42529	1.33	0.80722	D	1	B;P	0.41524	0.096;0.753	B;P	0.47044	0.155;0.535	T	0.60601	-0.7231	9	0.72032	D	0.01	-29.3292	17.1386	0.86747	0.0:1.0:0.0:0.0	.	315;315	P49137;P49137-2	MAPK2_HUMAN;.	N	315	ENSP00000294981:T315N;ENSP00000356070:T315N	ENSP00000294981:T315N	T	+	2	0	MAPKAPK2	204971659	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.704000	0.84595	2.391000	0.81399	0.561000	0.74099	ACC		0.562	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		A	206905036	C	A	206905036	3	1	279	1	0	0	0	0	1	0	0	0	9291	507	18	4	974	4	MAPKAPK2	1	206905036	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	23811192	206905036	42345585	8	16666											
POLR1A	25885	broad.mit.edu	37	2	86265841	86265841	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:86265841A>C	ENST00000263857.6	-	27	4394	c.4016T>G	c.(4015-4017)cTg>cGg	p.L1339R	POLR1A_ENST00000409681.1_Missense_Mutation_p.L1339R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1339					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CATGAAGCGCAGGATGTCCTC	0.522																																																0													77	73	74					2																	86265841		2013	4170	6183	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4016T>G	2.37:g.86265841A>C	ENSP00000263857:p.Leu1339Arg		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646222	0.67358	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.69685	-0.42;-0.42	5.8	5.8	0.92144	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.64402	D	0.000001	D	0.83778	0.5328	M	0.85197	2.74	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86513	0.1811	10	0.87932	D	0	-17.263	16.1502	0.81611	1.0:0.0:0.0:0.0	.	705;1339	B7Z8X7;O95602	.;RPA1_HUMAN	R	1339	ENSP00000263857:L1339R;ENSP00000386300:L1339R	ENSP00000263857:L1339R	L	-	2	0	POLR1A	86119352	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.807000	0.91935	2.224000	0.72417	0.533000	0.62120	CTG		0.522	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		C	86265841	A	C	86265841	3	2	279	1	0	0	0	0	1	0	0	0	12211	188	7	5	1178	5	POLR1A	2	86265841	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08		86265841	156933532	9	16667											
MERTK	10461	broad.mit.edu	37	2	112786169	112786169	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:112786169G>A	ENST00000295408.4	+	19	2985	c.2728G>A	c.(2728-2730)Gct>Act	p.A910T	MERTK_ENST00000409780.1_Missense_Mutation_p.A734T|MERTK_ENST00000421804.2_Missense_Mutation_p.A910T			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	910					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACTCCCCGCGCTGCCATCAG	0.562																																																0													126	124	125					2																	112786169		2203	4300	6503	SO:0001583	missense	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2728G>A	2.37:g.112786169G>A	ENSP00000295408:p.Ala910Thr		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	2.256	-0.370397	0.05069	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780;ENST00000449344	T;T;T;D	0.83755	-0.89;-0.89;-0.88;-1.76	5.47	1.26	0.21427	.	0.264640	0.20012	U	0.101094	T	0.68595	0.3018	L	0.46157	1.445	0.09310	N	1	B	0.22480	0.07	B	0.16722	0.016	T	0.47535	-0.9110	10	0.13470	T	0.59	-0.2223	1.0208	0.01517	0.2395:0.2142:0.349:0.1972	.	910	Q12866	MERTK_HUMAN	T	910;910;734;234	ENSP00000295408:A910T;ENSP00000389152:A910T;ENSP00000387277:A734T;ENSP00000412660:A234T	ENSP00000295408:A910T	A	+	1	0	MERTK	112502640	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.093000	0.11111	0.002000	0.14630	-0.136000	0.14681	GCT		0.562	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			A	112786169	G	A	112786169	3	1	279	1	0	0	0	0	1	0	0	0	9481	1087	38	1	2802	1	MERTK	2	112786169	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	26520328	112786169	130413204	10	16668											
RND3	390	broad.mit.edu	37	2	151326539	151326539	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:151326539A>C	ENST00000375734.2	-	5	946	c.697T>G	c.(697-699)Tta>Gta	p.L233V	RND3_ENST00000472416.1_5'Flank|RND3_ENST00000409557.1_Missense_Mutation_p.L104V|RND3_ENST00000263895.4_Missense_Mutation_p.L233V	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	233					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TCCTTTCGTAAGTCCGTAGCA	0.398																																																0													139	128	132					2																	151326539		2203	4300	6503	SO:0001583	missense	390				CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"ras homolog gene family, member E"	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.697T>G	2.37:g.151326539A>C	ENSP00000364886:p.Leu233Val		D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.264585	0.40095	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.66638	-0.22;-0.22;2.5	5.81	5.81	0.92471	.	0.704730	0.12478	N	0.465438	T	0.63165	0.2488	L	0.40543	1.245	0.58432	D	0.999997	B;B;B	0.21309	0.054;0.033;0.033	B;B;B	0.25759	0.063;0.008;0.008	T	0.58763	-0.7579	10	0.72032	D	0.01	-16.204	15.3525	0.74399	1.0:0.0:0.0:0.0	.	96;232;233	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	V	233;233;104	ENSP00000364886:L233V;ENSP00000263895:L233V;ENSP00000386576:L104V	ENSP00000263895:L233V	L	-	1	2	RND3	151034785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.001000	0.70685	2.221000	0.72209	0.528000	0.53228	TTA		0.398	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		C	151326539	A	C	151326539	3	2	279	1	0	0	0	0	1	0	0	0	13427	69	3	5	41	5	RND3	2	151326539	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08	38540370	151326539	91872834	11	16669											
ABCB11	8647	broad.mit.edu	37	2	169874569	169874569	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:169874569C>A	ENST00000263817.6	-	2	191	c.67G>T	c.(67-69)Gat>Tat	p.D23Y		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	23					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CATGATTTATCTGACTCAAAA	0.403																																																0													130	126	127					2																	169874569		1854	4099	5953	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.67G>T	2.37:g.169874569C>A	ENSP00000263817:p.Asp23Tyr		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	8.437	0.849958	0.17034	.	.	ENSG00000073734	ENST00000263817	D	0.87179	-2.22	5.91	3.02	0.34903	.	0.667620	0.13472	U	0.385367	T	0.72700	0.3493	N	0.08118	0	0.36390	D	0.862442	B	0.09022	0.002	B	0.08055	0.003	T	0.71276	-0.4641	10	0.49607	T	0.09	-16.8945	7.5437	0.27753	0.1358:0.7175:0.0:0.1467	.	23	O95342	ABCBB_HUMAN	Y	23	ENSP00000263817:D23Y	ENSP00000263817:D23Y	D	-	1	0	ABCB11	169582815	0.880000	0.30214	0.888000	0.34837	0.266000	0.26442	0.830000	0.27462	1.500000	0.48636	0.655000	0.94253	GAT		0.403	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		A	169874569	C	A	169874569	3	1	279	1	0	0	0	0	1	0	0	0	42	913	32	4	4006	4	ABCB11	2	169874569	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	18548030	169874569	73324804	12	16670											
HOXD3	3232	broad.mit.edu	37	2	177033995	177033995	+	Silent	SNP	A	A	C	rs141168805	byFrequency	TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:177033995A>C	ENST00000468418.3	+	3	2243	c.153A>C	c.(151-153)ccA>ccC	p.P51P	HOXD3_ENST00000249440.3_Silent_p.P51P|HOXD3_ENST00000410016.1_Silent_p.P51P			P31249	HXD3_HUMAN	homeobox D3	51					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGCCCTACCCACCCCCTGCTG	0.587													A|||	517	0.103235	0.0356	0.121	5008	,	,		14050	0.2192		0.162	False		,,,				2504	0.002															0								A		0,4406		0,0,2203	86	87	87		153	4.3	1	2	dbSNP_134	87	19,8581	9.1+/-34.3	0,19,4281	no	coding-synonymous	HOXD3	NM_006898.4		0,19,6484	CC,CA,AA		0.2209,0.0,0.1461		51/433	177033995	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	3232				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.153A>C	2.37:g.177033995A>C			Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	CCDS2270.1																																																																																				0.587	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			C	177033995	A	C	177033995	2	2	279	1	0	0	0	0	0	0	0	1	7325	146	6	5		5	HOXD3	2	177033995	Silent	SNP	A	TCGA-B8-5162-01A-01D-1421-08	7159426	177033995	66165378	13	16671											
DNAJC10	54431	broad.mit.edu	37	2	183584762	183584762	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:183584762T>A	ENST00000264065.7	+	4	648	c.233T>A	c.(232-234)tTa>tAa	p.L78*	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.L78*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	78	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGCGATTTTTTAAAAATAAAT	0.299																																					Pancreas(56;860 1183 25669 35822 48585)											0													52	54	53					2																	183584762		2203	4299	6502	SO:0001587	stop_gained	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.233T>A	2.37:g.183584762T>A	ENSP00000264065:p.Leu78*		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Nonsense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	T	36	5.939388	0.97128	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	.	.	.	5.76	2.05	0.26809	.	0.159226	0.42420	D	0.000711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.149	0.25599	0.0:0.1297:0.1237:0.7466	.	.	.	.	X	78	.	ENSP00000264065:L78X	L	+	2	0	DNAJC10	183293007	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	6.164000	0.71885	0.104000	0.17725	0.460000	0.39030	TTA		0.299	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		A	183584762	T	A	183584762	4	1	279	1	0	0	0	0	0	1	0	0	4631	1764	61	5	239	5	DNAJC10	2	183584762	Nonsense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	6550767	183584762	59614611	14	16672											
FRZB	2487	broad.mit.edu	37	2	183703339	183703339	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:183703339T>C	ENST00000295113.4	-	4	1204	c.595A>G	c.(595-597)Att>Gtt	p.I199V		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	199	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTAGCCCGAATGACTGGGATA	0.373																																																0													83	82	82					2																	183703339		2203	4300	6503	SO:0001583	missense	2487			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.595A>G	2.37:g.183703339T>C	ENSP00000295113:p.Ile199Val		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.013872	0.75161	.	.	ENSG00000162998	ENST00000295113	T	0.31510	1.49	5.05	5.05	0.67936	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	L	0.54323	1.7	0.80722	D	1	D	0.61080	0.989	D	0.65323	0.934	T	0.33420	-0.9869	10	0.30078	T	0.28	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	199	Q92765	SFRP3_HUMAN	V	199	ENSP00000295113:I199V	ENSP00000295113:I199V	I	-	1	0	FRZB	183411584	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.975000	0.88055	1.904000	0.55121	0.455000	0.32223	ATT		0.373	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		C	183703339	T	C	183703339	3	2	279	1	0	0	0	0	1	0	0	0	6067	1464	51	3	394	3	FRZB	2	183703339	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	118577	183703339	59496034	15	16673											
MYO1B	4430	broad.mit.edu	37	2	192141693	192141693	+	Silent	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:192141693A>G	ENST00000392318.3	+	2	319	c.72A>G	c.(70-72)gaA>gaG	p.E24E	MYO1B_ENST00000304164.4_Silent_p.E24E|MYO1B_ENST00000339514.4_Silent_p.E24E|MYO1B_ENST00000392316.1_Silent_p.E24E	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	24	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTCTTTTAGAACCTCTCAATG	0.438																																																0													121	116	118					2																	192141693		2203	4300	6503	SO:0001819	synonymous_variant	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.72A>G	2.37:g.192141693A>G			O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	CCDS46477.1																																																																																				0.438	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		G	192141693	A	G	192141693	2	3	279	1	0	0	0	0	0	0	0	1	10071	40	2	3		3	MYO1B	2	192141693	Silent	SNP	A	TCGA-B8-5162-01A-01D-1421-08	8438354	192141693	51057680	16	16674											
FAM124B	79843	broad.mit.edu	37	2	225266290	225266290	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:225266290C>A	ENST00000409685.3	-	1	461	c.196G>T	c.(196-198)Ggg>Tgg	p.G66W	FAM124B_ENST00000389874.3_Missense_Mutation_p.G66W|FAM124B_ENST00000243806.2_Missense_Mutation_p.G66W	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	66										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ACGGACATCCCTGGAAACCGG	0.567																																																0													59	58	58					2																	225266290		2203	4300	6503	SO:0001583	missense	79843			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.196G>T	2.37:g.225266290C>A	ENSP00000386895:p.Gly66Trp		A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837077	0.50951	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.48836	0.8;0.8;0.8	5.49	5.49	0.81192	.	0.106944	0.64402	D	0.000004	T	0.70842	0.3270	M	0.75447	2.3	0.47737	D	0.999505	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73792	-0.3871	10	0.87932	D	0	-33.904	19.3638	0.94453	0.0:1.0:0.0:0.0	.	66;66	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	W	66	ENSP00000374524:G66W;ENSP00000386895:G66W;ENSP00000243806:G66W	ENSP00000243806:G66W	G	-	1	0	FAM124B	224974534	0.619000	0.27059	0.992000	0.48379	0.021000	0.10359	1.507000	0.35758	2.570000	0.86706	0.655000	0.94253	GGG		0.567	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		A	225266290	C	A	225266290	3	1	279	1	0	0	0	0	1	0	0	0	5428	681	24	4	1270	4	FAM124B	2	225266290	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	33124597	225266290	17933083	17	16675											
PASK	23178	broad.mit.edu	37	2	242079401	242079401	+	Frame_Shift_Del	DEL	G	G	-	rs200237047		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr2:242079401delG	ENST00000405260.1	-	4	1197	c.499delC	c.(499-501)ctcfs	p.L167fs	PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Frame_Shift_Del_p.L167fs|PASK_ENST00000234040.4_Frame_Shift_Del_p.L167fs|PASK_ENST00000403638.3_Frame_Shift_Del_p.L167fs|PASK_ENST00000539818.1_Intron	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	167	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		AACTGCGTGAGCTTCTGGCCA	0.582																																																0													71	59	63					2																	242079401		2203	4300	6503	SO:0001589	frameshift_variant	23178			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.499delC	2.37:g.242079401delG	ENSP00000384016:p.Leu167fs		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Frame_Shift_Del	DEL	ENST00000405260.1	37	CCDS2545.1																																																																																				0.582	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		-	242079401	G	-	242079401	7	5	279	1	0	1	0	1	0	0	0	0	11474	971	34	0	3532	0	PASK	2	242079401	Frame_Shift_Del	DEL	G	TCGA-B8-5162-01A-01D-1421-08	16813111	242079401	1119972	18	16676											
VHL	7428	broad.mit.edu	37	3	10188252	10188252	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr3:10188252delA	ENST00000256474.2	+	2	1235	c.395delA	c.(394-396)caafs	p.Q132fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	132	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.T133fs*26(4)|p.N131fs*27(2)|p.Q132fs*2(1)|p.N131fs*10(1)|p.N131*(1)|p.N131fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGGTTAACCAAACTGAATTA	0.453		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Deletion - Frameshift(10)	kidney(10)	GRCh37	CM994242	VHL	M							207	191	196					3																	10188252		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.395delA	3.37:g.10188252delA	ENSP00000256474:p.Gln132fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.453	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188252	A	-	10188252	7	5	279	1	0	1	0	1	0	0	0	0	17167	130	5	0	401	0	VHL	3	10188252	Frame_Shift_Del	DEL	A	TCGA-B8-5162-01A-01D-1421-08		10188252	187834178	19	16677											
KIF15	56992	broad.mit.edu	37	3	44839366	44839366	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr3:44839366A>T	ENST00000326047.4	+	10	1165	c.1016A>T	c.(1015-1017)aAt>aTt	p.N339I	KIF15_ENST00000425755.1_5'Flank	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	339	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ATAATTGCAAATGTTCATCCT	0.378																																																0													103	98	100					3																	44839366		2203	4300	6503	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1016A>T	3.37:g.44839366A>T	ENSP00000324020:p.Asn339Ile		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638828	0.87760	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031	T;T	0.73575	-0.76;-0.76	5.37	5.37	0.77165	Kinesin, motor domain (3);	0.000000	0.56097	D	0.000038	D	0.89508	0.6735	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92084	0.5675	10	0.66056	D	0.02	.	15.3768	0.74610	1.0:0.0:0.0:0.0	.	339	Q9NS87	KIF15_HUMAN	I	339;111;338	ENSP00000324020:N339I;ENSP00000425499:N111I	ENSP00000324020:N339I	N	+	2	0	KIF15	44814370	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	8.962000	0.93254	2.038000	0.60285	0.379000	0.24179	AAT		0.378	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			T	44839366	A	T	44839366	3	4	279	1	0	0	0	0	1	0	0	0	8279	101	4	5	1054	5	KIF15	3	44839366	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08	34651114	44839366	153183064	20	16678											
CELSR3	1951	broad.mit.edu	37	3	48691328	48691328	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr3:48691328C>T	ENST00000164024.4	-	8	5541	c.5261G>A	c.(5260-5262)gGc>gAc	p.G1754D	CELSR3_ENST00000544264.1_Missense_Mutation_p.G1754D	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1754	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGTCTTTGCCGCCGAAGCC	0.602																																																0													48	61	56					3																	48691328		2203	4300	6503	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5261G>A	3.37:g.48691328C>T	ENSP00000164024:p.Gly1754Asp		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	c	33	5.230111	0.95207	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.98150	-4.75;-4.75	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99124	0.9698	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99342	1.0912	9	0.87932	D	0	.	19.4859	0.95028	0.0:1.0:0.0:0.0	.	1754;1824	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	D	1754	ENSP00000164024:G1754D;ENSP00000445694:G1754D	ENSP00000164024:G1754D	G	-	2	0	CELSR3	48666332	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.715000	0.68430	2.616000	0.88540	0.651000	0.88453	GGC		0.602	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48691328	C	T	48691328	3	4	279	1	0	0	0	0	1	0	0	0	3225	739	26	2	4789	2	CELSR3	3	48691328	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	3851962	48691328	149331102	21	16679											
OR5K1	26339	broad.mit.edu	37	3	98188528	98188528	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr3:98188528G>A	ENST00000332650.5	+	1	205	c.108G>A	c.(106-108)ctG>ctA	p.L36L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCATCTATCTGATCACCGTGG	0.433																																																0													151	151	151					3																	98188528		2203	4297	6500	SO:0001819	synonymous_variant	26339			X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.108G>A	3.37:g.98188528G>A			B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	CCDS43115.1																																																																																				0.433	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			A	98188528	G	A	98188528	2	1	279	1	0	0	0	0	0	0	0	1	11168	1277	45	2		2	OR5K1	3	98188528	Silent	SNP	G	TCGA-B8-5162-01A-01D-1421-08	49497200	98188528	99833902	22	16680											
ZNF518B	85460	broad.mit.edu	37	4	10445423	10445423	+	Missense_Mutation	SNP	G	G	A	rs368367410		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr4:10445423G>A	ENST00000326756.3	-	3	2968	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	844					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AGTTTAGGCCGCAGAGGTGTC	0.463																																																0								G	TRP/ARG	0,4406		0,0,2203	87	83	85		2530	2.3	0.1	4		85	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZNF518B	NM_053042.2	101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	844/1075	10445423	3,13003	2203	4300	6503	SO:0001583	missense	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2530C>T	4.37:g.10445423G>A	ENSP00000317614:p.Arg844Trp		Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253438	0.59212	0.0	3.49E-4	ENSG00000178163	ENST00000326756	T	0.01947	4.54	6.02	2.28	0.28536	.	0.478975	0.19882	N	0.103947	T	0.01976	0.0062	L	0.46157	1.445	0.09310	N	1	B	0.33135	0.399	B	0.20767	0.031	T	0.46303	-0.9201	10	0.87932	D	0	-12.5883	3.5969	0.08009	0.0808:0.134:0.4126:0.3726	.	844	Q9C0D4	Z518B_HUMAN	W	844	ENSP00000317614:R844W	ENSP00000317614:R844W	R	-	1	2	ZNF518B	10054521	0.003000	0.15002	0.091000	0.20842	0.003000	0.03518	1.200000	0.32247	0.889000	0.36185	-0.152000	0.13540	CGG		0.463	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		A	10445423	G	A	10445423	3	1	279	1	0	0	0	0	1	0	0	0	17968	1086	38	1	698	1	ZNF518B	4	10445423	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08		10445423	180708853	23	16681											
ANK2	287	broad.mit.edu	37	4	114277003	114277003	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr4:114277003A>C	ENST00000357077.4	+	38	7282	c.7229A>C	c.(7228-7230)gAa>gCa	p.E2410A	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2377A|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2410					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAGGGTTAGAACTTGCACTC	0.522																																																0													60	61	61					4																	114277003		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7229A>C	4.37:g.114277003A>C	ENSP00000349588:p.Glu2410Ala		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.462735	0.63513	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.70282	-0.47;-0.47	6.06	4.88	0.63580	.	0.000000	0.64402	D	0.000018	T	0.80099	0.4561	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.976;0.998	P;D	0.81914	0.626;0.995	T	0.79120	-0.1934	9	.	.	.	.	10.6156	0.45447	0.928:0.0:0.072:0.0	.	2377;2410	Q01484;Q01484-4	ANK2_HUMAN;.	A	2410;2377	ENSP00000349588:E2410A;ENSP00000264366:E2377A	.	E	+	2	0	ANK2	114496452	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.928000	0.70088	1.121000	0.41925	0.533000	0.62120	GAA		0.522	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		C	114277003	A	C	114277003	3	2	279	1	0	0	0	0	1	0	0	0	621	246	9	5	7444	5	ANK2	4	114277003	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08	103831580	114277003	76877273	24	16682											
NDST4	64579	broad.mit.edu	37	4	115767136	115767136	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr4:115767136delG	ENST00000264363.2	-	10	2636	c.1958delC	c.(1957-1959)cctfs	p.P653fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	653	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGATGGTGTAGGGAAAAAGTC	0.358																																																0													67	65	66					4																	115767136		2203	4300	6503	SO:0001589	frameshift_variant	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1958delC	4.37:g.115767136delG	ENSP00000264363:p.Pro653fs		Q2KHM8	Frame_Shift_Del	DEL	ENST00000264363.2	37	CCDS3706.1																																																																																				0.358	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		-	115767136	G	-	115767136	7	5	279	1	0	1	0	1	0	0	0	0	10260	1000	35	0	680	0	NDST4	4	115767136	Frame_Shift_Del	DEL	G	TCGA-B8-5162-01A-01D-1421-08	1490133	115767136	75387140	25	16683	130	2									
NDST4	64579	broad.mit.edu	37	4	115767144	115767144	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr4:115767144G>T	ENST00000264363.2	-	10	2628	c.1950C>A	c.(1948-1950)gaC>gaA	p.D650E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	650	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TAGGGAAAAAGTCCATATACC	0.343																																																0													63	61	62					4																	115767144		2203	4300	6503	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1950C>A	4.37:g.115767144G>T	ENSP00000264363:p.Asp650Glu		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	5.918	0.353465	0.11182	.	.	ENSG00000138653	ENST00000264363	T	0.53206	0.63	5.73	0.432	0.16529	Sulfotransferase domain (1);	0.113744	0.64402	D	0.000004	T	0.21674	0.0522	N	0.20445	0.575	0.44890	D	0.997909	B	0.02656	0.0	B	0.14578	0.011	T	0.05354	-1.0890	10	0.13470	T	0.59	.	0.8027	0.01078	0.3072:0.1197:0.3297:0.2435	.	650	Q9H3R1	NDST4_HUMAN	E	650	ENSP00000264363:D650E	ENSP00000264363:D650E	D	-	3	2	NDST4	115986593	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.441000	0.21611	0.350000	0.24002	0.655000	0.94253	GAC		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		T	115767144	G	T	115767144	3	4	279	1	0	0	0	0	1	0	0	0	10260	1020	36	4	688	4	NDST4	4	115767144	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	8	115767144	75387132	26	16684	130	2									
FAT4	79633	broad.mit.edu	37	4	126411764	126411764	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr4:126411764C>A	ENST00000394329.3	+	17	13800	c.13787C>A	c.(13786-13788)aCt>aAt	p.T4596N	FAT4_ENST00000335110.5_Missense_Mutation_p.T2837N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4596					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATGATGAAACTGATATTCCT	0.498																																																0													86	93	91					4																	126411764		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13787C>A	4.37:g.126411764C>A	ENSP00000377862:p.Thr4596Asn		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505625	0.44558	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76186	-0.79;-1.0	4.95	4.04	0.47022	.	0.000000	0.35291	U	0.003320	T	0.75243	0.3823	L	0.36672	1.1	0.53688	D	0.999976	D;D;D	0.64830	0.992;0.994;0.992	P;P;P	0.59115	0.838;0.852;0.838	T	0.71586	-0.4548	10	0.24483	T	0.36	.	13.8274	0.63359	0.0:0.8461:0.1539:0.0	.	2837;4596;4595	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	4596;2837	ENSP00000377862:T4596N;ENSP00000335169:T2837N	ENSP00000335169:T2837N	T	+	2	0	FAT4	126631214	1.000000	0.71417	0.925000	0.36789	0.812000	0.45895	5.728000	0.68531	2.275000	0.75901	0.561000	0.74099	ACT		0.498	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		A	126411764	C	A	126411764	3	1	279	1	0	0	0	0	1	0	0	0	5694	565	20	4	13853	4	FAT4	4	126411764	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	10644620	126411764	64742512	27	16685											
C5orf55	116349	broad.mit.edu	37	5	442720	442720	+	Missense_Mutation	SNP	C	C	T	rs201231253		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:442720C>T	ENST00000408966.2	-	1	538	c.218G>A	c.(217-219)cGc>cAc	p.R73H	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	73						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						CCAATGACTGCGCTCCTGGAG	0.602																																																0													109	119	116					5																	442720		1964	4157	6121	SO:0001583	missense	116349			BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.218G>A	5.37:g.442720C>T	ENSP00000386139:p.Arg73His		Q96CR9	Missense_Mutation	SNP	ENST00000408966.2	37	CCDS43298.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	3.754	-0.050907	0.07407	.	.	ENSG00000221990	ENST00000408966	T	0.40225	1.04	0.677	-1.35	0.09114	.	.	.	.	.	T	0.18593	0.0446	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14615	-1.0466	8	0.87932	D	0	.	.	.	.	.	73	Q8N2X6	CE055_HUMAN	H	73	ENSP00000386139:R73H	ENSP00000386139:R73H	R	-	2	0	C5orf55	495720	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	-0.375000	0.07475	-1.154000	0.02825	-1.088000	0.02184	CGC		0.602	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464		T	442720	C	T	442720	3	4	279	1	0	0	0	0	1	0	0	0	2313	768	27	1	145	1	C5orf55	5	442720	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08		442720	180472540	28	16686											
NIPBL	25836	broad.mit.edu	37	5	37048673	37048673	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:37048673T>A	ENST00000282516.8	+	39	7158	c.6659T>A	c.(6658-6660)tTa>tAa	p.L2220*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.L2220*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2220					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATAATATTTTATCTGATAAG	0.348																																																0													37	44	42					5																	37048673		2177	4274	6451	SO:0001587	stop_gained	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6659T>A	5.37:g.37048673T>A	ENSP00000282516:p.Leu2220*		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	49	15.968916	0.99850	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2966	16.6245	0.84952	0.0:0.0:0.0:1.0	.	.	.	.	X	2220	.	ENSP00000282516:L2220X	L	+	2	0	NIPBL	37084430	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.669000	0.83911	2.323000	0.78572	0.528000	0.53228	TTA		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		A	37048673	T	A	37048673	4	1	279	1	0	0	0	0	0	1	0	0	10430	1764	61	5	6809	5	NIPBL	5	37048673	Nonsense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	36605953	37048673	143866587	29	16687											
PAIP1	10605	broad.mit.edu	37	5	43556087	43556087	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:43556087G>T	ENST00000306846.3	-	2	512	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	PAIP1_ENST00000436644.2_Missense_Mutation_p.L15M|PAIP1_ENST00000338972.4_De_novo_Start_InFrame|PAIP1_ENST00000514514.1_Missense_Mutation_p.L15M	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	94	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GGAGCTCTCAGGGGCCTCGTT	0.453																																																0													105	115	111					5																	43556087		2203	4300	6503	SO:0001583	missense	10605			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.280C>A	5.37:g.43556087G>T	ENSP00000302768:p.Leu94Met		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055276	0.36277	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000514514	T;T;T	0.30714	1.52;1.53;1.54	5.8	3.85	0.44370	.	1.841840	0.02477	N	0.088162	T	0.17916	0.0430	N	0.08118	0	0.09310	N	1	B;B;B	0.31351	0.214;0.214;0.32	B;B;B	0.31751	0.094;0.135;0.124	T	0.21008	-1.0258	10	0.33141	T	0.24	0.1419	3.5061	0.07691	0.0896:0.1219:0.5417:0.2468	.	15;94;15	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	M	94;15;15	ENSP00000302768:L94M;ENSP00000387729:L15M;ENSP00000425084:L15M	ENSP00000302768:L94M	L	-	1	2	PAIP1	43591844	0.970000	0.33590	0.523000	0.27875	0.954000	0.61252	1.472000	0.35376	1.445000	0.47624	0.561000	0.74099	CTG		0.453	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		T	43556087	G	T	43556087	3	4	279	1	0	0	0	0	1	0	0	0	11398	991	35	4	1199	4	PAIP1	5	43556087	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	6507414	43556087	137359173	30	16688											
DMGDH	29958	broad.mit.edu	37	5	78347129	78347129	+	Silent	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:78347129A>G	ENST00000255189.3	-	5	754	c.726T>C	c.(724-726)aaT>aaC	p.N242N	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	242					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCACAATTCTATTTGCTCTCA	0.393																																																0													162	166	165					5																	78347129		2203	4300	6503	SO:0001819	synonymous_variant	29958			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.726T>C	5.37:g.78347129A>G			B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	CCDS4044.1																																																																																				0.393	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		G	78347129	A	G	78347129	2	3	279	1	0	0	0	0	0	0	0	1	4583	446	16	3		3	DMGDH	5	78347129	Silent	SNP	A	TCGA-B8-5162-01A-01D-1421-08	34791042	78347129	102568131	31	16689											
CHD1	1105	broad.mit.edu	37	5	98217770	98217770	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:98217770C>T	ENST00000284049.3	-	19	2925	c.2776G>A	c.(2776-2778)Gcg>Acg	p.A926T		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	926	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCTTTTTCGCCCTTTCAAGA	0.363																																																0													132	119	123					5																	98217770		2203	4300	6503	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2776G>A	5.37:g.98217770C>T	ENSP00000284049:p.Ala926Thr		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384563	0.95967	.	.	ENSG00000153922	ENST00000284049	D	0.94828	-3.53	4.88	4.88	0.63580	Helicase, C-terminal (1);	0.000000	0.33382	U	0.004972	D	0.97592	0.9211	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98452	1.0592	10	0.87932	D	0	.	18.3808	0.90451	0.0:1.0:0.0:0.0	.	926	O14646	CHD1_HUMAN	T	926	ENSP00000284049:A926T	ENSP00000284049:A926T	A	-	1	0	CHD1	98245670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.432000	0.82394	0.585000	0.79938	GCG		0.363	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		T	98217770	C	T	98217770	3	4	279	1	0	0	0	0	1	0	0	0	3325	739	26	2	2424	2	CHD1	5	98217770	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	19870641	98217770	82697490	32	16690											
AQPEP	206338	broad.mit.edu	37	5	115335578	115335578	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:115335578T>G	ENST00000357872.4	+	7	1618	c.1494T>G	c.(1492-1494)ttT>ttG	p.F498L	AQPEP_ENST00000395528.2_Missense_Mutation_p.F15L	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		498						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AGGAACTCTTTGACATATTTA	0.368																																																0													81	81	81					5																	115335578		2202	4300	6502	SO:0001583	missense	206338																														ENST00000357872.4:c.1494T>G	5.37:g.115335578T>G	ENSP00000350541:p.Phe498Leu		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.826919	0.50739	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.09538	3.2;2.97	5.77	4.58	0.56647	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.146689	0.47852	D	0.000217	T	0.40067	0.1102	M	0.93016	3.37	0.35772	D	0.82098	D	0.89917	1.0	D	0.97110	1.0	T	0.59810	-0.7384	10	0.87932	D	0	.	10.4379	0.44445	0.0:0.0781:0.0:0.9219	.	498	Q6Q4G3	AMPQ_HUMAN	L	15;498;487	ENSP00000378899:F15L;ENSP00000350541:F498L	ENSP00000350541:F498L	F	+	3	2	AC010282.1	115363477	1.000000	0.71417	0.866000	0.34008	0.004000	0.04260	2.260000	0.43267	1.082000	0.41137	0.533000	0.62120	TTT		0.368	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			G	115335578	T	G	115335578	3	3	279	1	0	0	0	0	1	0	0	0	834	1809	63	5	1520	5	AQPEP	5	115335578	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	17117808	115335578	65579682	33	16691											
ISOC1	51015	broad.mit.edu	37	5	128448671	128448671	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:128448671T>A	ENST00000173527.5	+	5	890	c.874T>A	c.(874-876)Tcg>Acg	p.S292T		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	292						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		TGCTCCAGAGTCGGGTCTGCT	0.468																																																0													108	103	105					5																	128448671		1872	4104	5976	SO:0001583	missense	51015			AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.874T>A	5.37:g.128448671T>A	ENSP00000173527:p.Ser292Thr		Q7Z770	Missense_Mutation	SNP	ENST00000173527.5	37	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.366359	0.41902	.	.	ENSG00000066583	ENST00000173527	.	.	.	4.93	4.93	0.64822	Isochorismatase-like (1);	0.000000	0.64402	D	0.000008	T	0.41442	0.1159	N	0.17723	0.515	0.45733	D	0.998632	B	0.29432	0.244	B	0.26517	0.07	T	0.29336	-1.0015	8	.	.	.	-14.3436	15.0593	0.71939	0.0:0.0:0.0:1.0	.	292	Q96CN7	ISOC1_HUMAN	T	292	.	.	S	+	1	0	ISOC1	128476570	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	4.816000	0.62642	2.194000	0.70268	0.533000	0.62120	TCG		0.468	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		A	128448671	T	A	128448671	3	1	279	1	0	0	0	0	1	0	0	0	7864	1667	58	5	892	5	ISOC1	5	128448671	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	13113093	128448671	52466589	34	16692											
IK	3550	broad.mit.edu	37	5	140038746	140038746	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:140038746T>A	ENST00000417647.2	+	12	1312	c.1173T>A	c.(1171-1173)gaT>gaA	p.D391E		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	391					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTAGATGATGAGGTGAGAT	0.512																																																0													62	73	70					5																	140038746		2099	4237	6336	SO:0001583	missense	3550			BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1173T>A	5.37:g.140038746T>A	ENSP00000396301:p.Asp391Glu		Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814986	0.32053	.	.	ENSG00000113141	ENST00000417647	.	.	.	5.03	2.62	0.31277	.	0.416515	0.25984	N	0.027046	T	0.28400	0.0702	N	0.10972	0.075	0.38572	D	0.94997	B	0.02656	0.0	B	0.04013	0.001	T	0.06862	-1.0803	9	0.18276	T	0.48	.	8.7045	0.34345	0.0:0.2288:0.0:0.7712	.	391	Q13123	RED_HUMAN	E	391	.	ENSP00000396301:D391E	D	+	3	2	IK	140018930	0.976000	0.34144	1.000000	0.80357	0.962000	0.63368	0.008000	0.13197	0.347000	0.23924	0.533000	0.62120	GAT		0.512	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		A	140038746	T	A	140038746	3	1	279	1	0	0	0	0	1	0	0	0	7610	1461	51	5	1219	5	IK	5	140038746	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	11590075	140038746	40876514	35	16693											
UIMC1	51720	broad.mit.edu	37	5	176395660	176395663	+	Frame_Shift_Del	DEL	CCCT	CCCT	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr5:176395660_176395663delCCCT	ENST00000377227.4	-	6	1225_1228	c.1093_1096delAGGG	c.(1093-1098)agggcafs	p.RA365fs	UIMC1_ENST00000511320.1_Frame_Shift_Del_p.RA365fs|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377219.2_Frame_Shift_Del_p.RA365fs|UIMC1_ENST00000506128.1_Intron			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	365	AIR.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTCAGATGCCCTAGACTCCTGC	0.441																																																0																																										SO:0001589	frameshift_variant	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1093_1096delAGGG	5.37:g.176395660_176395663delCCCT	ENSP00000366434:p.Arg365fs		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Frame_Shift_Del	DEL	ENST00000377227.4	37	CCDS4408.1																																																																																				0.441	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		-	176395663	CCCT	-	176395660	7	5	279	1	0	1	0	1	0	0	0	0	16976	739	26	0	1103	0	UIMC1	5	176395660	Frame_Shift_Del	DEL	CCCT	TCGA-B8-5162-01A-01D-1421-08	36356914	176395660	4519600	36	16694											
F13A1	2162	broad.mit.edu	37	6	6152120	6152120	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:6152120T>G	ENST00000264870.3	-	14	2236	c.1971A>C	c.(1969-1971)ttA>ttC	p.L657F		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	657					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGTTTCTTTTAAAGGATTGG	0.468																																																0													92	84	87					6																	6152120		2203	4300	6503	SO:0001583	missense	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1971A>C	6.37:g.6152120T>G	ENSP00000264870:p.Leu657Phe		Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	T	6.644	0.487248	0.12641	.	.	ENSG00000124491	ENST00000264870	D	0.86097	-2.07	5.37	-3.21	0.05140	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.065536	0.64402	D	0.000010	T	0.63082	0.2481	M	0.66939	2.045	0.29401	N	0.861954	B	0.25521	0.128	B	0.26202	0.067	T	0.50841	-0.8780	10	0.45353	T	0.12	.	2.2702	0.04088	0.1177:0.2924:0.1212:0.4686	.	657	P00488	F13A_HUMAN	F	657	ENSP00000264870:L657F	ENSP00000264870:L657F	L	-	3	2	F13A1	6097119	0.998000	0.40836	0.486000	0.27416	0.119000	0.20118	0.333000	0.19768	-0.115000	0.11915	-0.297000	0.09499	TTA		0.468	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		G	6152120	T	G	6152120	3	3	279	1	0	0	0	0	1	0	0	0	5342	1751	61	5	235	5	F13A1	6	6152120	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08		6152120	164962947	37	16695											
F13A1	2162	broad.mit.edu	37	6	6225028	6225028	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:6225028G>A	ENST00000264870.3	-	7	1129	c.864C>T	c.(862-864)gtC>gtT	p.V288V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	288					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCGATGGGGGGACGCCATAGG	0.507																																																0													110	104	106					6																	6225028		2203	4300	6503	SO:0001819	synonymous_variant	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.864C>T	6.37:g.6225028G>A			Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032865	0.19590	.	.	ENSG00000124491	ENST00000445223	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.36527	D	0.870517	.	.	.	.	.	.	T	0.33599	-0.9862	4	.	.	.	.	6.1462	0.20287	0.346:0.4028:0.1834:0.0678	.	.	.	.	F	5	.	.	S	-	2	0	F13A1	6170027	0.000000	0.05858	0.001000	0.08648	0.963000	0.63663	-2.465000	0.00995	-2.507000	0.00506	0.563000	0.77884	TCC		0.507	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		A	6225028	G	A	6225028	2	1	279	1	0	0	0	0	0	0	0	1	5342	1161	41	2		2	F13A1	6	6225028	Silent	SNP	G	TCGA-B8-5162-01A-01D-1421-08	72908	6225028	164890039	38	16696											
FAM8A1	51439	broad.mit.edu	37	6	17608559	17608559	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:17608559G>T	ENST00000259963.3	+	5	1286	c.1231G>T	c.(1231-1233)Ggg>Tgg	p.G411W		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	411						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AAAAAGAAATGGGGTCAGATG	0.393																																																0													67	63	64					6																	17608559		2203	4300	6503	SO:0001583	missense	51439			AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1231G>T	6.37:g.17608559G>T	ENSP00000259963:p.Gly411Trp		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414413	0.62511	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.63	5.63	0.86233	.	0.101521	0.64402	D	0.000002	T	0.44603	0.1301	N	0.08118	0	0.51767	D	0.99993	D	0.89917	1.0	D	0.83275	0.996	T	0.59080	-0.7521	9	0.87932	D	0	-12.1159	13.9133	0.63881	0.0728:0.0:0.9272:0.0	.	411	Q9UBU6	FA8A1_HUMAN	W	161;411	.	ENSP00000259963:G411W	G	+	1	0	FAM8A1	17716538	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	4.264000	0.58859	2.652000	0.90054	0.557000	0.71058	GGG		0.393	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			T	17608559	G	T	17608559	3	4	279	1	0	0	0	0	1	0	0	0	5651	1348	47	4	1249	4	FAM8A1	6	17608559	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	11383531	17608559	153506508	39	16697											
ZNF323	64288	broad.mit.edu	37	6	28297403	28297403	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:28297403T>C	ENST00000414429.1	-	6	961	c.58A>G	c.(58-60)Atc>Gtc	p.I20V	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I20V|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I20V|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I20V|ZSCAN31_ENST00000446474.1_Intron			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	20					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGGTCCCAGATAGGGTCTTCC	0.463																																																0													84	82	83					6																	28297403		2203	4300	6503	SO:0001583	missense	64288				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.58A>G	6.37:g.28297403T>C	ENSP00000390076:p.Ile20Val		Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	T	1.578	-0.532380	0.04112	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222;ENST00000434036;ENST00000444081	T;T;T;T;T;T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;4.47;4.4;4.17;3.82;3.71;3.59	4.09	-5.44	0.02624	.	.	.	.	.	T	0.00666	0.0022	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49597	-0.8923	9	0.13108	T	0.6	.	0.1507	0.00093	0.2777:0.1953:0.2722:0.2548	.	20	Q96LW9	ZN323_HUMAN	V	20	ENSP00000380050:I20V;ENSP00000413705:I20V;ENSP00000390076:I20V;ENSP00000345339:I20V;ENSP00000389479:I20V;ENSP00000412519:I20V;ENSP00000416108:I20V;ENSP00000406376:I20V;ENSP00000411033:I20V;ENSP00000416225:I20V	ENSP00000345339:I20V	I	-	1	0	ZNF323	28405382	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.364000	0.01080	-1.172000	0.02762	-0.433000	0.05886	ATC		0.463	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		C	28297403	T	C	28297403	3	2	279	1	0	0	0	0	1	0	0	0	17848	1406	49	3	1174	3	ZNF323	6	28297403	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	10688844	28297403	142817664	40	16698											
ZNF451	26036	broad.mit.edu	37	6	56997884	56997884	+	Silent	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:56997884C>A	ENST00000370706.4	+	6	713	c.469C>A	c.(469-471)Cga>Aga	p.R157R	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Silent_p.R157R|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Silent_p.R157R|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGTTCATTCCGAAGAGGAGG	0.393																																																0													100	97	98					6																	56997884		2203	4300	6503	SO:0001819	synonymous_variant	26036			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.469C>A	6.37:g.56997884C>A			Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	ENST00000370706.4	37	CCDS43477.1																																																																																				0.393	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		A	56997884	C	A	56997884	2	1	279	1	0	0	0	0	0	0	0	1	17927	644	23	4		4	ZNF451	6	56997884	Silent	SNP	C	TCGA-B8-5162-01A-01D-1421-08	28700481	56997884	114117183	41	16699											
PGM3	5238	broad.mit.edu	37	6	83881749	83881749	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:83881749C>T	ENST00000283977.4	-	10	1155	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	PGM3_ENST00000512866.1_Silent_p.L424L|PGM3_ENST00000513973.1_Silent_p.L424L|PGM3_ENST00000506587.1_Silent_p.L452L					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CTTCAATCACCAGCATGTCAG	0.418																																																0													123	108	113					6																	83881749		2203	4300	6503	SO:0001819	synonymous_variant	5238			BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"acetylglucosamine phosphomutase"	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.1029G>A	6.37:g.83881749C>T				Silent	SNP	ENST00000283977.4	37																																																																																					0.418	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		T	83881749	C	T	83881749	2	4	279	1	0	0	0	0	0	0	0	1	11802	581	21	2		2	PGM3	6	83881749	Silent	SNP	C	TCGA-B8-5162-01A-01D-1421-08	26883865	83881749	87233318	42	16700											
SAMD3	154075	broad.mit.edu	37	6	130465915	130465915	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr6:130465915delT	ENST00000368134.2	-	14	1921	c.1313delA	c.(1312-1314)aacfs	p.N438fs	SAMD3_ENST00000437477.2_Frame_Shift_Del_p.N438fs|RP11-73O6.3_ENST00000415964.1_RNA|SAMD3_ENST00000457563.2_Frame_Shift_Del_p.N462fs|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.N438fs|RP11-73O6.3_ENST00000609978.1_RNA	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	438										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GTTGAAAGGGTTTTTAACTTC	0.403																																																0													40	41	41					6																	130465915		2203	4300	6503	SO:0001589	frameshift_variant	154075			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1313delA	6.37:g.130465915delT	ENSP00000357116:p.Asn438fs		B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Frame_Shift_Del	DEL	ENST00000368134.2	37	CCDS34539.1																																																																																				0.403	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		-	130465915	T	-	130465915	7	5	279	1	0	1	0	1	0	0	0	0	13826	1725	60	0	253	0	SAMD3	6	130465915	Frame_Shift_Del	DEL	T	TCGA-B8-5162-01A-01D-1421-08	46584166	130465915	40649152	43	16701											
GET4	51608	broad.mit.edu	37	7	926213	926213	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:926213G>C	ENST00000265857.3	+	3	336	c.242G>C	c.(241-243)aGt>aCt	p.S81T	GET4_ENST00000407192.1_Missense_Mutation_p.S28T|RP11-449P15.2_ENST00000609998.1_RNA	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	81					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TAGCAAAACAGTGCAGCAGAC	0.562																																																0													144	135	138					7																	926213		2203	4300	6503	SO:0001583	missense	51608			AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"CGI-20 protein", "conserved edge protein", "transmembrane domain recognition complex, 35kDa"	612056	"chromosome 7 open reading frame 20"	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.242G>C	7.37:g.926213G>C	ENSP00000265857:p.Ser81Thr		A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.580177	0.86645	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000441491	T	0.76316	-1.01	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90196	0.4253	10	0.51188	T	0.08	-12.5024	19.5658	0.95391	0.0:0.0:1.0:0.0	.	81	Q7L5D6	GET4_HUMAN	T	81;35;28;93	ENSP00000265857:S81T	ENSP00000265857:S81T	S	+	2	0	GET4	892739	1.000000	0.71417	0.981000	0.43875	0.640000	0.38277	9.540000	0.98080	2.619000	0.88677	0.651000	0.88453	AGT		0.562	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949		C	926213	G	C	926213	3	2	279	1	0	0	0	0	1	0	0	0	6338	1029	36	4	252	4	GET4	7	926213	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08		926213	158212450	44	16702											
THSD7A	221981	broad.mit.edu	37	7	11675781	11675781	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:11675781T>C	ENST00000423059.4	-	2	1249	c.998A>G	c.(997-999)aAg>aGg	p.K333R	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	333					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTCCCCGTCTTGTTAATGCA	0.378										HNSCC(18;0.044)																																						0													147	142	144					7																	11675781		1890	4121	6011	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.998A>G	7.37:g.11675781T>C	ENSP00000406482:p.Lys333Arg			Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	2.308	-0.358551	0.05138	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.57752	0.38	5.62	3.28	0.37604	.	0.185331	0.53938	N	0.000043	T	0.19287	0.0463	N	0.01668	-0.77	0.24861	N	0.992345	B	0.02656	0.0	B	0.04013	0.001	T	0.16571	-1.0398	10	0.14656	T	0.56	.	5.3963	0.16271	0.0:0.3941:0.0:0.6059	.	333	Q9UPZ6	THS7A_HUMAN	R	333	ENSP00000406482:K333R	ENSP00000262042:K333R	K	-	2	0	THSD7A	11642306	0.996000	0.38824	0.998000	0.56505	0.407000	0.30961	0.367000	0.20382	1.080000	0.41073	0.477000	0.44152	AAG		0.378	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		C	11675781	T	C	11675781	3	2	279	1	0	0	0	0	1	0	0	0	15884	1609	56	3	4079	3	THSD7A	7	11675781	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	10749568	11675781	147462882	45	16703											
ADCY1	107	broad.mit.edu	37	7	45743056	45743056	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:45743056G>A	ENST00000297323.7	+	15	2558	c.2536G>A	c.(2536-2538)Gcc>Acc	p.A846T		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	846					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCCCACGTCGCCCAGCACTT	0.627																																																0													157	132	140					7																	45743056		2203	4300	6503	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2536G>A	7.37:g.45743056G>A	ENSP00000297323:p.Ala846Thr		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819359	0.90873	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.85484	-1.99	5.03	4.15	0.48705	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	M	0.89163	3.01	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.93236	0.6622	10	0.87932	D	0	.	11.2923	0.49258	0.0886:0.0:0.9114:0.0	.	846	Q08828	ADCY1_HUMAN	T	846	ENSP00000297323:A846T	ENSP00000297323:A846T	A	+	1	0	ADCY1	45709581	1.000000	0.71417	0.881000	0.34555	0.958000	0.62258	9.109000	0.94291	1.345000	0.45676	0.462000	0.41574	GCC		0.627	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		A	45743056	G	A	45743056	3	1	279	1	0	0	0	0	1	0	0	0	292	1087	38	1	2594	1	ADCY1	7	45743056	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	34067275	45743056	113395607	46	16704											
SAMD9	54809	broad.mit.edu	37	7	92734736	92734736	+	Silent	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:92734736A>G	ENST00000379958.2	-	3	944	c.675T>C	c.(673-675)gcT>gcC	p.A225A		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	225						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTCATACAAGCTGAAGCAA	0.398																																																0													137	131	133					7																	92734736		2203	4300	6503	SO:0001819	synonymous_variant	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.675T>C	7.37:g.92734736A>G			A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	CCDS34680.1																																																																																				0.398	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		G	92734736	A	G	92734736	2	3	279	1	0	0	0	0	0	0	0	1	13832	59	3	3		3	SAMD9	7	92734736	Silent	SNP	A	TCGA-B8-5162-01A-01D-1421-08	46991680	92734736	66403927	47	16705											
CCDC132	55610	broad.mit.edu	37	7	92940514	92940527	+	Frame_Shift_Del	DEL	AGATTACAGTCTAA	AGATTACAGTCTAA	-	rs374860561		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:92940514_92940527delAGATTACAGTCTAA	ENST00000305866.5	+	20	1913_1926	c.1785_1798delAGATTACAGTCTAA	c.(1783-1800)tcagattacagtctaaatfs	p.DYSLN596fs	CCDC132_ENST00000535481.1_Frame_Shift_Del_p.DYSLN316fs|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.DYSLN407fs|CCDC132_ENST00000544910.1_Frame_Shift_Del_p.DYSLN566fs|CCDC132_ENST00000317751.6_Frame_Shift_Del_p.DYSLN327fs	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	596						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGAAGAAATCAGATTACAGTCTAAATAAAGTGAA	0.304																																																0																																										SO:0001589	frameshift_variant	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1785_1798delAGATTACAGTCTAA	7.37:g.92940514_92940527delAGATTACAGTCTAA	ENSP00000307666:p.Asp596fs		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Frame_Shift_Del	DEL	ENST00000305866.5	37	CCDS43617.1																																																																																				0.304	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		-	92940527	AGATTACAGTCTAA	-	92940514	7	5	279	1	0	1	0	1	0	0	0	0	2769	175	7	0	1905	0	CCDC132	7	92940514	Frame_Shift_Del	DEL	AGATTACAGTCTAA	TCGA-B8-5162-01A-01D-1421-08	205778	92940514	66198149	48	16706											
KEL	3792	broad.mit.edu	37	7	142658018	142658018	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:142658018G>A	ENST00000355265.2	-	4	871	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	133					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCCTCACCCAGTATTCTCCGA	0.488																																																0													189	193	192					7																	142658018		2203	4300	6503	SO:0001819	synonymous_variant	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.397C>T	7.37:g.142658018G>A			B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.415774	0.01136	.	.	ENSG00000197993	ENST00000460479	.	.	.	5.84	0.908	0.19326	.	.	.	.	.	T	0.55337	0.1914	.	.	.	0.45330	D	0.998329	.	.	.	.	.	.	T	0.46005	-0.9222	4	.	.	.	.	8.4134	0.32657	0.4142:0.0:0.5858:0.0	.	.	.	.	I	143	.	.	T	-	2	0	KEL	142368140	0.023000	0.18921	0.056000	0.19401	0.003000	0.03518	-0.048000	0.11944	0.102000	0.17638	-0.749000	0.03505	ACT		0.488	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142658018	G	A	142658018	2	1	279	1	0	0	0	0	0	0	0	1	8144	1020	36	2		2	KEL	7	142658018	Silent	SNP	G	TCGA-B8-5162-01A-01D-1421-08	49717504	142658018	16480645	49	16707											
AGAP3	116988	broad.mit.edu	37	7	150831516	150831516	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr7:150831516G>C	ENST00000463381.1	+	11	1168	c.672G>C	c.(670-672)gaG>gaC	p.E224D	AGAP3_ENST00000397238.2_Missense_Mutation_p.E452D	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	416	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGGCAAGGAGATTGACCTGC	0.622																																																0													45	52	50					7																	150831516		2084	4232	6316	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.672G>C	7.37:g.150831516G>C	ENSP00000418016:p.Glu224Asp		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.495668|4.495668	0.85069|0.85069	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355|ENST00000461065	T;T|.	0.75154|.	-0.91;-0.91|.	4.25|4.25	3.36|3.36	0.38483|0.38483	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.74913|0.74913	0.3779|0.3779	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D;P|.	0.63880|.	0.993;0.98;0.924|.	P;D;P|.	0.66847|.	0.874;0.947;0.798|.	T|T	0.77107|0.77107	-0.2710|-0.2710	10|5	0.56958|.	D|.	0.05|.	.|.	11.9382|11.9382	0.52886|0.52886	0.0899:0.0:0.9101:0.0|0.0899:0.0:0.9101:0.0	.|.	8;452;224|.	E7ETI2;Q96P47-4;B3KNZ8|.	.;.;.|.	D|T	224;8;452;416|2	ENSP00000418016:E224D;ENSP00000380413:E452D|.	ENSP00000334157:E416D|.	E|R	+|+	3|2	2|0	AGAP3|AGAP3	150462449|150462449	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	1.864000|1.864000	0.39469|0.39469	2.355000|2.355000	0.79922|0.79922	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.622	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		C	150831516	G	C	150831516	3	2	279	1	0	0	0	0	1	0	0	0	369	933	33	4	1465	4	AGAP3	7	150831516	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	8173498	150831516	8307147	50	16708											
EFHA2	286097	broad.mit.edu	37	8	16948087	16948087	+	Silent	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:16948087T>A	ENST00000318063.5	+	8	924	c.882T>A	c.(880-882)acT>acA	p.T294T		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	294						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										ATTCTCCTACTAATAGTGTAT	0.328																																																0													219	225	223					8																	16948087		2203	4299	6502	SO:0001819	synonymous_variant	286097			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.882T>A	8.37:g.16948087T>A			Q8IYZ3	Silent	SNP	ENST00000318063.5	37	CCDS5999.1																																																																																				0.328	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		A	16948087	T	A	16948087	2	1	279	1	0	0	0	0	0	0	0	1	4946	1509	53	5		5	EFHA2	8	16948087	Silent	SNP	T	TCGA-B8-5162-01A-01D-1421-08		16948087	129415935	51	16709											
XPO7	23039	broad.mit.edu	37	8	21824497	21824497	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:21824497C>A	ENST00000252512.9	+	2	248	c.148C>A	c.(148-150)Ctc>Atc	p.L50I	XPO7_ENST00000433566.4_Missense_Mutation_p.L51I|XPO7_ENST00000434536.1_Missense_Mutation_p.L50I|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	50	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GTGCCAGCTACTCCTCGAAAG	0.478																																																0													81	81	81					8																	21824497		2078	4234	6312	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.148C>A	8.37:g.21824497C>A	ENSP00000252512:p.Leu50Ile		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.115778|4.115778	0.77323|0.77323	.|.	.|.	ENSG00000130227|ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566|ENST00000521303	T;T;T|.	0.64618|.	-0.11;-0.11;-0.11|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59609|.	0.2206|.	L|L	0.41961|0.41961	1.31|1.31	0.80722|0.80722	D|D	1|1	D;P;P|.	0.71674|.	0.998;0.754;0.865|.	D;P;P|.	0.67382|.	0.951;0.669;0.669|.	T|.	0.54662|.	-0.8260|.	10|.	0.02654|.	T|.	1|.	-12.6768|-12.6768	13.0212|13.0212	0.58789|0.58789	0.0:0.926:0.0:0.074|0.0:0.926:0.0:0.074	.|.	51;50;50|.	E7ESC6;E9PEN8;Q9UIA9|.	.;.;XPO7_HUMAN|.	I|X	50;50;51|54	ENSP00000404853:L50I;ENSP00000252512:L50I;ENSP00000410249:L51I|.	ENSP00000252512:L50I|.	L|Y	+|+	1|3	0|2	XPO7|XPO7	21880443|21880443	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.998000|0.998000	0.95712|0.95712	4.025000|4.025000	0.57225|0.57225	2.771000|2.771000	0.95319|0.95319	0.655000|0.655000	0.94253|0.94253	CTC|TAC		0.478	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		A	21824497	C	A	21824497	3	1	279	1	0	0	0	0	1	0	0	0	17454	565	20	4	179	4	XPO7	8	21824497	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	4876410	21824497	124539525	52	16710											
PPP3CC	5533	broad.mit.edu	37	8	22397011	22397011	+	Splice_Site	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:22397011G>T	ENST00000240139.5	+	13	1678	c.1351G>T	c.(1351-1353)Gcc>Tcc	p.A451S	PPP3CC_ENST00000397775.3_Splice_Site_p.A460S|RP11-582J16.4_ENST00000514980.1_RNA|PPP3CC_ENST00000289963.8_Intron	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	451					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GGCCCGGGAAGGTATGGCCAT	0.423																																																0													238	218	225					8																	22397011		2203	4300	6503	SO:0001630	splice_region_variant	5533				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.1351+1G>T	8.37:g.22397011G>T			B4DRT5|Q9BSS6|Q9H4M5	Splice_Site	SNP	ENST00000240139.5	37	CCDS34859.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941221	0.92526	.	.	ENSG00000120910	ENST00000240139;ENST00000397775	T;T	0.05580	3.42;3.42	5.83	5.83	0.93111	.	0.058491	0.64402	D	0.000002	T	0.12092	0.0294	L	0.34521	1.04	0.58432	D	0.999997	B;P	0.43287	0.244;0.802	B;P	0.49451	0.191;0.611	T	0.01245	-1.1407	10	0.49607	T	0.09	-11.8173	18.8889	0.92391	0.0:0.0:1.0:0.0	.	460;451	B4DRT5;P48454	.;PP2BC_HUMAN	S	451;460	ENSP00000240139:A451S;ENSP00000380878:A460S	ENSP00000240139:A451S	A	+	1	0	PPP3CC	22452956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.030000	0.88816	2.767000	0.95098	0.650000	0.86243	GCC		0.423	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605	Missense_Mutation	T	22397011	G	T	22397011	5	4	279	1	0	0	0	0	0	0	1	0	12404	1014	35	4	1401	4	PPP3CC	8	22397011	Splice_Site	SNP	G	TCGA-B8-5162-01A-01D-1421-08	572514	22397011	123967011	53	16711											
RAD54B	25788	broad.mit.edu	37	8	95403999	95403999	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	549					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTCCTGGTCGGCAAAAGACAA	0.398								Direct reversal of damage;Homologous recombination																																								1	Substitution - coding silent(1)	lung(1)											120	126	124					8																	95403999		2203	4300	6503	SO:0001819	synonymous_variant	25788			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1647C>T	8.37:g.95403999G>A			F6WBS8	Silent	SNP	ENST00000336148.5	37	CCDS6262.1																																																																																				0.398	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		A	95403999	G	A	95403999	2	1	279	1	0	0	0	0	0	0	0	1	12998	1195	42	2		2	RAD54B	8	95403999	Silent	SNP	G	TCGA-B8-5162-01A-01D-1421-08	73006988	95403999	50960023	54	16712											
KCNS2	3788	broad.mit.edu	37	8	99440853	99440853	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:99440853G>A	ENST00000287042.4	+	2	996	c.646G>A	c.(646-648)Gac>Aac	p.D216N	KCNS2_ENST00000521839.1_Missense_Mutation_p.D216N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	216					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCAAATCCCTGACAGCCAGGG	0.567																																					Pancreas(138;844 2489 9202 24627)											0													88	89	88					8																	99440853		2203	4300	6503	SO:0001583	missense	3788			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.646G>A	8.37:g.99440853G>A	ENSP00000287042:p.Asp216Asn		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731836	0.48939	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96554	-4.05;-4.05	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	L	0.42008	1.315	0.49483	D	0.999799	B	0.12630	0.006	B	0.08055	0.003	D	0.89613	0.3843	10	0.44086	T	0.13	.	14.5035	0.67737	0.0697:0.0:0.9303:0.0	.	216	Q9ULS6	KCNS2_HUMAN	N	216	ENSP00000287042:D216N;ENSP00000430712:D216N	ENSP00000287042:D216N	D	+	1	0	KCNS2	99510029	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	5.719000	0.68462	2.816000	0.96949	0.563000	0.77884	GAC		0.567	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		A	99440853	G	A	99440853	3	1	279	1	0	0	0	0	1	0	0	0	8091	1290	45	2	648	2	KCNS2	8	99440853	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	4036854	99440853	46923169	55	16713											
TM7SF4	81501	broad.mit.edu	37	8	105361635	105361635	+	Silent	SNP	G	G	A	rs553927963		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:105361635G>A	ENST00000297581.2	+	2	904	c.855G>A	c.(853-855)ccG>ccA	p.P285P	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	285					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CTTTCTGGCCGACTCCTAAAG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19782	0.0		0.0	False		,,,				2504	0.001															0													99	106	103					8																	105361635		2203	4300	6503	SO:0001819	synonymous_variant	81501			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.855G>A	8.37:g.105361635G>A			B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	CCDS6301.1																																																																																				0.478	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		A	105361635	G	A	105361635	2	1	279	1	0	0	0	0	0	0	0	1	15981	1045	37	1		1	TM7SF4	8	105361635	Silent	SNP	G	TCGA-B8-5162-01A-01D-1421-08	5920782	105361635	41002387	56	16714											
FOXH1	8928	broad.mit.edu	37	8	145700316	145700316	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr8:145700316C>A	ENST00000377317.4	-	3	981	c.403G>T	c.(403-405)Ggt>Tgt	p.G135C	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	135					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCACGCGCACCTCCGTTCTGC	0.711																																																0													11	12	12					8																	145700316		2181	4266	6447	SO:0001583	missense	8928			AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"Forkhead boxes"	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.403G>T	8.37:g.145700316C>A	ENSP00000366534:p.Gly135Cys		D3DWM4	Missense_Mutation	SNP	ENST00000377317.4	37	CCDS6428.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988789	0.35131	.	.	ENSG00000160973	ENST00000377317;ENST00000292541	D	0.95980	-3.87	4.78	3.88	0.44766	.	0.000000	0.53938	D	0.000043	D	0.95771	0.8624	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	P	0.60789	0.879	D	0.90574	0.4524	10	0.46703	T	0.11	-21.6143	12.5865	0.56421	0.0:0.8312:0.1688:0.0	.	135	O75593	FOXH1_HUMAN	C	135;162	ENSP00000366534:G135C	ENSP00000292541:G162C	G	-	1	0	FOXH1	145671124	0.186000	0.23225	0.003000	0.11579	0.041000	0.13682	2.109000	0.41863	0.963000	0.38082	0.462000	0.41574	GGT		0.711	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1			A	145700316	C	A	145700316	3	1	279	1	0	0	0	0	1	0	0	0	6010	681	24	4	698	4	FOXH1	8	145700316	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	40338681	145700316	663706	57	16715											
TEK	7010	broad.mit.edu	37	9	27213540	27213540	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr9:27213540A>C	ENST00000380036.4	+	18	3378	c.2936A>C	c.(2935-2937)aAa>aCa	p.K979T	TEK_ENST00000406359.4_Missense_Mutation_p.K936T|TEK_ENST00000519097.1_Missense_Mutation_p.K831T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	979	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TATGTGGCAAAAATAGCAGAT	0.393																																																0													131	132	132					9																	27213540		2203	4300	6503	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2936A>C	9.37:g.27213540A>C	ENSP00000369375:p.Lys979Thr		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498422	0.85069	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.78364	-1.17;-1.17;-1.17	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000060	D	0.92227	0.7535	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94684	0.7868	10	0.87932	D	0	.	16.1383	0.81506	1.0:0.0:0.0:0.0	.	831;1012;979	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	T	831;979;936	ENSP00000430686:K831T;ENSP00000369375:K979T;ENSP00000383977:K936T	ENSP00000369375:K979T	K	+	2	0	TEK	27203540	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.339000	0.96797	2.219000	0.72066	0.533000	0.62120	AAA		0.393	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			C	27213540	A	C	27213540	3	2	279	1	0	0	0	0	1	0	0	0	15756	14	1	5	3006	5	TEK	9	27213540	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08		27213540	113999891	58	16716											
SMU1	55234	broad.mit.edu	37	9	33071759	33071759	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr9:33071759C>G	ENST00000397149.3	-	3	419	c.369G>C	c.(367-369)agG>agC	p.R123S	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	123						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CAAAGTAAGACCTGGCCAAAA	0.378																																																0													113	95	101					9																	33071759		2203	4300	6503	SO:0001583	missense	55234			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.369G>C	9.37:g.33071759C>G	ENSP00000380336:p.Arg123Ser		B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	37	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710639	0.48517	.	.	ENSG00000122692	ENST00000397149	T	0.49432	0.78	5.47	2.1	0.27182	.	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	M	0.80332	2.49	0.80722	D	1	P;P	0.38020	0.615;0.615	B;B	0.38378	0.272;0.272	T	0.34279	-0.9835	10	0.36615	T	0.2	-28.0995	5.7055	0.17905	0.0:0.5419:0.0:0.4581	.	123;123	A0MNN4;Q2TAY7	.;SMU1_HUMAN	S	123	ENSP00000380336:R123S	ENSP00000380336:R123S	R	-	3	2	SMU1	33061759	0.418000	0.25440	1.000000	0.80357	0.996000	0.88848	-0.279000	0.08479	0.774000	0.33427	0.591000	0.81541	AGG		0.378	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		G	33071759	C	G	33071759	3	3	279	1	0	0	0	0	1	0	0	0	14823	506	18	4	1212	4	SMU1	9	33071759	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	5858219	33071759	108141672	59	16717											
PTAR1	375743	broad.mit.edu	37	9	72338295	72338295	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr9:72338295G>T	ENST00000340434.4	-	6	897	c.894C>A	c.(892-894)ttC>ttA	p.F298L	PTAR1_ENST00000377200.5_Missense_Mutation_p.F219L	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	298					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GATCAGTGCTGAATTCAACTT	0.408																																																0													183	179	181					9																	72338295		1864	4103	5967	SO:0001583	missense	375743			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"Prenyltransferase alpha subunit repeat containing"	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.894C>A	9.37:g.72338295G>T	ENSP00000344299:p.Phe298Leu		Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	CCDS47978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.777|7.777	0.708662|0.708662	0.15239|0.15239	.|.	.|.	ENSG00000188647|ENSG00000188647	ENST00000377200;ENST00000340434|ENST00000415701	T;T|.	0.39787|.	1.06;1.06|.	5.99|5.99	5.09|5.09	0.68999|0.68999	Protein prenyltransferase (1);|.	0.108805|.	0.64402|.	D|.	0.000004|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.31752|0.31752	0.955|0.955	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.51911|0.51911	-0.8645|-0.8645	10|5	0.02654|.	T|.	1|.	.|.	15.4334|15.4334	0.75121|0.75121	0.0664:0.0:0.9336:0.0|0.0664:0.0:0.9336:0.0	.|.	298|.	Q7Z6K3|.	PTAR1_HUMAN|.	L|K	219;298|65	ENSP00000366405:F219L;ENSP00000344299:F298L|.	ENSP00000344299:F298L|.	F|Q	-|-	3|1	2|0	PTAR1|PTAR1	71528115|71528115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.515000|4.515000	0.60489|0.60489	1.540000|1.540000	0.49301|0.49301	0.655000|0.655000	0.94253|0.94253	TTC|CAG		0.408	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		T	72338295	G	T	72338295	3	4	279	1	0	0	0	0	1	0	0	0	12729	1281	45	4	326	4	PTAR1	9	72338295	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	39266536	72338295	68875136	60	16718											
ITIH2	3698	broad.mit.edu	37	10	7786219	7786220	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:7786219_7786220delAC	ENST00000358415.4	+	18	2550_2551	c.2384_2385delAC	c.(2383-2385)gacfs	p.D795fs	ITIH2_ENST00000379587.4_Frame_Shift_Del_p.D784fs	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	795					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCCTGGTCCGACACGGCTCAAG	0.46																																																0																																										SO:0001589	frameshift_variant	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2384_2385delAC	10.37:g.7786221_7786222delAC	ENSP00000351190:p.Asp795fs		Q14659|Q15484|Q5T986	Frame_Shift_Del	DEL	ENST00000358415.4	37	CCDS31141.1																																																																																				0.46	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		-	7786220	AC	-	7786219	7	5	279	1	0	1	0	1	0	0	0	0	7906	275	10	0	2454	0	ITIH2	10	7786219	Frame_Shift_Del	DEL	AC	TCGA-B8-5162-01A-01D-1421-08		7786219	127748528	61	16719											
SLC16A9	220963	broad.mit.edu	37	10	61413932	61413932	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:61413932C>T	ENST00000395348.3	-	5	1488	c.852G>A	c.(850-852)aaG>aaA	p.K284K	SLC16A9_ENST00000395347.1_Silent_p.K284K	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	284					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GCCACTTCCTCTTGGCAAGCT	0.373																																																0													113	115	114					10																	61413932		2203	4300	6503	SO:0001819	synonymous_variant	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.852G>A	10.37:g.61413932C>T			Q6ZMI2|Q9UFH8	Silent	SNP	ENST00000395348.3	37	CCDS7256.1																																																																																				0.373	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		T	61413932	C	T	61413932	2	4	279	1	0	0	0	0	0	0	0	1	14421	912	32	2		2	SLC16A9	10	61413932	Silent	SNP	C	TCGA-B8-5162-01A-01D-1421-08	53627713	61413932	74120815	62	16720											
STOX1	219736	broad.mit.edu	37	10	70645316	70645316	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:70645316G>A	ENST00000298596.6	+	3	1847	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.Q478Q|STOX1_ENST00000399169.4_Silent_p.Q588Q|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	588						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACCCTCAACAGAGCATGTTGC	0.393																																																0													130	116	121					10																	70645316		1918	4118	6036	SO:0001819	synonymous_variant	219736			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1764G>A	10.37:g.70645316G>A			A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	CCDS41535.1																																																																																				0.393	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		A	70645316	G	A	70645316	2	1	279	1	0	0	0	0	0	0	0	1	15324	933	33	2		2	STOX1	10	70645316	Silent	SNP	G	TCGA-B8-5162-01A-01D-1421-08	9231384	70645316	64889431	63	16721											
KIF20B	9585	broad.mit.edu	37	10	91514386	91514386	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:91514386T>C	ENST00000371728.3	+	26	4524	c.4459T>C	c.(4459-4461)Tat>Cat	p.Y1487H	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.Y1517H|KIF20B_ENST00000260753.4_Missense_Mutation_p.Y1447H|KIF20B_ENST00000394289.2_Missense_Mutation_p.Y1487H	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1487					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATGAAAAAATATGCTGAGGA	0.318																																																0													78	82	81					10																	91514386		2203	4296	6499	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4459T>C	10.37:g.91514386T>C	ENSP00000360793:p.Tyr1487His		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	T	20.4	3.992312	0.74703	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.83	3.52	0.40303	.	0.158492	0.29924	N	0.010847	T	0.48003	0.1476	L	0.60455	1.87	0.32504	N	0.538475	B;B	0.27140	0.105;0.169	B;B	0.28553	0.042;0.091	T	0.56613	-0.7950	10	0.66056	D	0.02	-7.9847	9.5591	0.39357	0.0:0.1423:0.0:0.8577	.	1487;1447	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	H	1447;1517;1487;1487	ENSP00000260753:Y1447H;ENSP00000411545:Y1517H;ENSP00000377830:Y1487H;ENSP00000360793:Y1487H	ENSP00000260753:Y1447H	Y	+	1	0	KIF20B	91504366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.888000	0.63164	0.487000	0.27698	0.533000	0.62120	TAT		0.318	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		C	91514386	T	C	91514386	3	2	279	1	0	0	0	0	1	0	0	0	8289	1406	49	3	4437	3	KIF20B	10	91514386	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	20869070	91514386	44020361	64	16722											
C10orf62	414157	broad.mit.edu	37	10	99349705	99349705	+	Silent	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:99349705A>T	ENST00000370640.3	+	1	256	c.51A>T	c.(49-51)ccA>ccT	p.P17P	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	17										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		CTGAGTGTCCATCAGACAAGG	0.507																																																0													98	98	98					10																	99349705		2203	4300	6503	SO:0001819	synonymous_variant	414157				CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.51A>T	10.37:g.99349705A>T			Q49A70|Q8N3Y6	Silent	SNP	ENST00000370640.3	37	CCDS31261.1																																																																																				0.507	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		T	99349705	A	T	99349705	2	4	279	1	0	0	0	0	0	0	0	1	1613	204	8	5		5	C10orf62	10	99349705	Silent	SNP	A	TCGA-B8-5162-01A-01D-1421-08	7835319	99349705	36185042	65	16723											
PNLIP	5406	broad.mit.edu	37	10	118327269	118327269	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:118327269A>G	ENST00000369221.2	+	13	1385	c.1357A>G	c.(1357-1359)Acc>Gcc	p.T453A		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	453	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TAGTCCAGAAACCGTCAGGGA	0.438																																																0													180	163	169					10																	118327269		2203	4300	6503	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1357A>G	10.37:g.118327269A>G	ENSP00000358223:p.Thr453Ala		Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	A	8.984	0.976024	0.18736	.	.	ENSG00000175535	ENST00000369221	T	0.65178	-0.14	5.52	5.52	0.82312	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.085246	0.50627	D	0.000106	T	0.66567	0.2802	M	0.84219	2.685	0.21719	N	0.999576	B	0.20261	0.043	B	0.26864	0.074	T	0.60120	-0.7325	10	0.41790	T	0.15	.	13.4553	0.61195	1.0:0.0:0.0:0.0	.	453	P16233	LIPP_HUMAN	A	453	ENSP00000358223:T453A	ENSP00000358223:T453A	T	+	1	0	PNLIP	118317259	0.978000	0.34361	0.029000	0.17559	0.001000	0.01503	3.691000	0.54720	2.234000	0.73211	0.533000	0.62120	ACC		0.438	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		G	118327269	A	G	118327269	3	3	279	1	0	0	0	0	1	0	0	0	12151	43	2	3	1403	3	PNLIP	10	118327269	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08	18977564	118327269	17207478	66	16724											
C10orf137	26098	broad.mit.edu	37	10	127422205	127422205	+	Splice_Site	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr10:127422205A>T	ENST00000356792.4	+	11	1510	c.1278A>T	c.(1276-1278)gcA>gcT	p.A426A	C10orf137_ENST00000337623.3_Splice_Site_p.A392A	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCTTTTCAGCAAGTGGCAGCG	0.368																																																0													99	99	99					10																	127422205		2203	4300	6503	SO:0001630	splice_region_variant	26098																														ENST00000356792.4:c.1277-1A>T	10.37:g.127422205A>T			B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Splice_Site	SNP	ENST00000356792.4	37	CCDS55733.1																																																																																				0.368	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		Silent	T	127422205	A	T	127422205	5	4	279	1	0	0	0	0	0	0	1	0	1596	144	5	5	1214	5	C10orf137	10	127422205	Splice_Site	SNP	A	TCGA-B8-5162-01A-01D-1421-08	9094936	127422205	8112542	67	16725											
QSER1	79832	broad.mit.edu	37	11	32953290	32953290	+	Splice_Site	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr11:32953290C>A	ENST00000399302.2	+	4	434	c.99C>A	c.(97-99)ggC>ggA	p.G33G	QSER1_ENST00000527788.1_Splice_Site_p.G33G|QSER1_ENST00000527250.1_3'UTR	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	33										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTTCATAGGCATGCATTCCT	0.408																																																0													114	111	112					11																	32953290		1974	4156	6130	SO:0001630	splice_region_variant	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.98-1C>A	11.37:g.32953290C>A			Q6ZU30|Q6ZUR5	Splice_Site	SNP	ENST00000399302.2	37	CCDS41631.1																																																																																				0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	Silent	A	32953290	C	A	32953290	5	1	279	1	0	0	0	0	0	0	1	0	12888	724	25	4	105	4	QSER1	11	32953290	Splice_Site	SNP	C	TCGA-B8-5162-01A-01D-1421-08		32953290	102053226	68	16726											
CKAP5	9793	broad.mit.edu	37	11	46772146	46772146	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr11:46772146T>C	ENST00000529230.1	-	41	5522	c.5476A>G	c.(5476-5478)Aag>Gag	p.K1826E	CKAP5_ENST00000354558.3_Missense_Mutation_p.K1766E|CKAP5_ENST00000415402.1_Missense_Mutation_p.K1833E|CKAP5_ENST00000312055.5_Missense_Mutation_p.K1766E|MIR5582_ENST00000579697.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1826					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACTTTGGCCTTTGATGATTTT	0.343																																					Ovarian(4;85 273 2202 4844 13323)											0													81	79	80					11																	46772146		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5476A>G	11.37:g.46772146T>C	ENSP00000432768:p.Lys1826Glu		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.975796|3.975796	0.74360|0.74360	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558|ENST00000525896	T;T;T;T|.	0.42900|.	1.02;1.04;0.96;0.96|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.53481|0.53481	0.1799|0.1799	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.62365|.	0.991;0.986;0.976|.	P;P;P|.	0.56563|.	0.801;0.737;0.551|.	T|T	0.50242|0.50242	-0.8851|-0.8851	10|6	0.16896|.	T|.	0.51|.	-12.9835|-12.9835	16.1988|16.1988	0.82053|0.82053	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1833;1766;1826|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	E|R	1826;1833;1766;1766|64	ENSP00000432768:K1826E;ENSP00000395302:K1833E;ENSP00000310227:K1766E;ENSP00000346566:K1766E|.	ENSP00000310227:K1766E|.	K|K	-|-	1|2	0|0	CKAP5|CKAP5	46728722|46728722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.482000|7.482000	0.81143|0.81143	2.230000|2.230000	0.72887|0.72887	0.454000|0.454000	0.30748|0.30748	AAG|AAA		0.343	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		C	46772146	T	C	46772146	3	2	279	1	0	0	0	0	1	0	0	0	3447	1850	64	3	638	3	CKAP5	11	46772146	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	13818856	46772146	88234370	69	16727											
CLEC4E	26253	broad.mit.edu	37	12	8693386	8693386	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:8693386G>A	ENST00000299663.3	-	1	173	c.8C>T	c.(7-9)tCa>tTa	p.S3L	CLEC4E_ENST00000545274.1_Missense_Mutation_p.S3L|CLEC4E_ENST00000446457.2_Missense_Mutation_p.S3L	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	3					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGATTTAGATGAATTCATTTT	0.363																																																0													309	265	280					12																	8693386		2203	4300	6503	SO:0001583	missense	26253			AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"C-type lectin domain containing"	14555	protein-coding gene	gene with protein product		609962	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.8C>T	12.37:g.8693386G>A	ENSP00000299663:p.Ser3Leu		B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942339	0.53079	.	.	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	T;T	0.41400	4.0;1.0	3.83	2.94	0.34122	.	0.249082	0.21867	N	0.067951	T	0.46964	0.1420	L	0.57536	1.79	0.09310	N	0.999996	D	0.56968	0.978	P	0.53649	0.731	T	0.32052	-0.9921	10	0.62326	D	0.03	.	7.1032	0.25348	0.1202:0.0:0.8798:0.0	.	3	Q9ULY5	CLC4E_HUMAN	L	3	ENSP00000299663:S3L;ENSP00000443034:S3L	ENSP00000299663:S3L	S	-	2	0	CLEC4E	8584653	0.990000	0.36364	0.160000	0.22671	0.158000	0.22134	3.520000	0.53465	1.206000	0.43276	0.591000	0.81541	TCA		0.363	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		A	8693386	G	A	8693386	3	1	279	1	0	0	0	0	1	0	0	0	3517	1294	45	2	675	2	CLEC4E	12	8693386	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08		8693386	125158509	70	16728											
GUCY2C	2984	broad.mit.edu	37	12	14804433	14804433	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:14804433C>G	ENST00000261170.3	-	15	1754	c.1618G>C	c.(1618-1620)Gac>Cac	p.D540H		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	540	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTGTAATAGTCAATCTGAAGC	0.388																																																0													96	84	88					12																	14804433		2203	4300	6503	SO:0001583	missense	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1618G>C	12.37:g.14804433C>G	ENSP00000261170:p.Asp540His		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575848	0.86645	.	.	ENSG00000070019	ENST00000261170	T	0.63096	-0.02	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	N	0.20610	0.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73990	-0.3808	10	0.72032	D	0.01	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	540	P25092	GUC2C_HUMAN	H	540	ENSP00000261170:D540H	ENSP00000261170:D540H	D	-	1	0	GUCY2C	14695700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.420000	0.80191	2.603000	0.88011	0.655000	0.94253	GAC		0.388	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			G	14804433	C	G	14804433	3	3	279	1	0	0	0	0	1	0	0	0	6898	826	29	4	1655	4	GUCY2C	12	14804433	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	6111047	14804433	119047462	71	16729											
PPHLN1	51535	broad.mit.edu	37	12	42745776	42745776	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:42745776T>A	ENST00000395568.2	+	3	246	c.162T>A	c.(160-162)agT>agA	p.S54R	PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.S72R|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S54R|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S54R|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S61R|PPHLN1_ENST00000550535.1_3'UTR	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	54					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GATATTACAGTCATGTTGATT	0.428																																																0													101	94	96					12																	42745776		2203	4300	6503	SO:0001583	missense	51535			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.162T>A	12.37:g.42745776T>A	ENSP00000378935:p.Ser54Arg		E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515460	0.64634	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000546750;ENST00000547847	.	.	.	6.17	5.04	0.67666	.	0.229759	0.44902	D	0.000407	T	0.47838	0.1467	L	0.46157	1.445	0.80722	D	1	P;P;P;P;P	0.49961	0.93;0.624;0.573;0.573;0.773	P;B;B;B;P	0.45712	0.462;0.261;0.369;0.369;0.491	T	0.49781	-0.8903	9	0.52906	T	0.07	0.0026	8.5205	0.33273	0.0:0.1385:0.0:0.8615	.	54;54;54;61;72	Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-2;F8W0Q9	PPHLN_HUMAN;.;.;.;.	R	72;61;54;54;54;61;54	.	ENSP00000351066:S54R	S	+	3	2	PPHLN1	41032043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.456000	0.44997	2.371000	0.80710	0.533000	0.62120	AGT		0.428	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		A	42745776	T	A	42745776	3	1	279	1	0	0	0	0	1	0	0	0	12317	1664	58	5	193	5	PPHLN1	12	42745776	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	27941343	42745776	91106119	72	16730											
OR6C4	341418	broad.mit.edu	37	12	55945275	55945275	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:55945275G>T	ENST00000394256.2	+	1	293	c.265G>T	c.(265-267)Gtt>Ttt	p.V89F	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGGAAATAAAGTTATCAGCTT	0.398																																																0													80	86	84					12																	55945275		2203	4299	6502	SO:0001583	missense	341418			BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"GPCR / Class A : Olfactory receptors"	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.265G>T	12.37:g.55945275G>T	ENSP00000377799:p.Val89Phe		A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	G	9.804	1.181429	0.21787	.	.	ENSG00000179626	ENST00000394256	T	0.00555	6.63	4.78	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	1.123880	0.06848	N	0.796920	T	0.00496	0.0016	L	0.31578	0.945	0.09310	N	1	B	0.23377	0.084	B	0.21546	0.035	T	0.45877	-0.9231	10	0.87932	D	0	.	4.8486	0.13526	0.4053:0.1539:0.4407:0.0	.	89	Q8NGE1	OR6C4_HUMAN	F	89	ENSP00000377799:V89F	ENSP00000377799:V89F	V	+	1	0	OR6C4	54231542	0.000000	0.05858	0.013000	0.15412	0.884000	0.51177	0.676000	0.25247	0.405000	0.25532	-0.182000	0.12963	GTT		0.398	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			T	55945275	G	T	55945275	3	4	279	1	0	0	0	0	1	0	0	0	11195	1029	36	4	267	4	OR6C4	12	55945275	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	13199499	55945275	77906620	73	16731											
LRRIQ1	84125	broad.mit.edu	37	12	85460535	85460535	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:85460535A>T	ENST00000393217.2	+	10	2615	c.2554A>T	c.(2554-2556)Att>Ttt	p.I852F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	852										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAAAACCATATTGAGGCTAT	0.299																																																0													90	89	90					12																	85460535		2202	4297	6499	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2554A>T	12.37:g.85460535A>T	ENSP00000376910:p.Ile852Phe		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947745	0.73787	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.16324	2.35	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.37461	0.1004	L	0.50993	1.605	0.45554	D	0.998505	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.10337	-1.0634	10	0.87932	D	0	.	15.7904	0.78357	1.0:0.0:0.0:0.0	.	852;827	Q96JM4;C9JI57	LRIQ1_HUMAN;.	F	852;827;852	ENSP00000376910:I852F	ENSP00000256007:I852F	I	+	1	0	LRRIQ1	83984666	1.000000	0.71417	0.997000	0.53966	0.847000	0.48162	6.937000	0.75898	2.193000	0.70182	0.460000	0.39030	ATT		0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		T	85460535	A	T	85460535	3	4	279	1	0	0	0	0	1	0	0	0	9031	449	16	5	2588	5	LRRIQ1	12	85460535	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08	29515260	85460535	48391360	74	16732											
SLC17A8	246213	broad.mit.edu	37	12	100774639	100774639	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr12:100774639A>T	ENST00000323346.5	+	2	575	c.262A>T	c.(262-264)Att>Ttt	p.I88F	SLC17A8_ENST00000392989.3_Missense_Mutation_p.I88F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	88					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGGATTCTGCATTTCCTTTGG	0.522																																																0													210	191	197					12																	100774639		2203	4300	6503	SO:0001583	missense	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.262A>T	12.37:g.100774639A>T	ENSP00000316909:p.Ile88Phe		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.814722	0.90790	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.59224	0.28;0.28	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.995;0.999	T	0.81444	-0.0930	10	0.66056	D	0.02	.	15.1946	0.73078	1.0:0.0:0.0:0.0	.	88;88	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	F	88	ENSP00000316909:I88F;ENSP00000376715:I88F	ENSP00000316909:I88F	I	+	1	0	SLC17A8	99298770	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.210000	0.95106	1.996000	0.58369	0.482000	0.46254	ATT		0.522	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		T	100774639	A	T	100774639	3	4	279	1	0	0	0	0	1	0	0	0	14429	217	8	5	268	5	SLC17A8	12	100774639	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08	15314104	100774639	33077256	75	16733											
FRY	10129	broad.mit.edu	37	13	32811616	32811616	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr13:32811616G>A	ENST00000380250.3	+	44	6407	c.5911G>A	c.(5911-5913)Gca>Aca	p.A1971T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1971						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGGCAACACCGCAACTGCCGA	0.537																																																0													60	69	66					13																	32811616		2020	4189	6209	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5911G>A	13.37:g.32811616G>A	ENSP00000369600:p.Ala1971Thr		Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.023983	0.19433	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.21734	1.99	5.65	-5.39	0.02664	.	0.703225	0.13908	N	0.354457	T	0.09774	0.0240	N	0.11427	0.14	0.23936	N	0.996414	B	0.06786	0.001	B	0.01281	0.0	T	0.22173	-1.0224	10	0.23302	T	0.38	.	15.1608	0.72782	0.3067:0.0:0.6933:0.0	.	1971	Q5TBA9	FRY_HUMAN	T	1971;808	ENSP00000369600:A1971T	ENSP00000369600:A1971T	A	+	1	0	FRY	31709616	0.044000	0.20184	0.000000	0.03702	0.005000	0.04900	0.435000	0.21510	-1.087000	0.03081	-0.768000	0.03414	GCA		0.537	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		A	32811616	G	A	32811616	3	1	279	1	0	0	0	0	1	0	0	0	6065	1087	38	1	6085	1	FRY	13	32811616	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08		32811616	82358262	76	16734											
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																																0									,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		T	60582734	-	T	60582733	7	5	279	1	0	1	1	0	0	0	0	0	4522	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-B8-5162-01A-01D-1421-08	27771117	60582733	54587145	77	16735											
MYH7	4625	broad.mit.edu	37	14	23902427	23902427	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr14:23902427C>T	ENST00000355349.3	-	4	373	c.211G>A	c.(211-213)Gtg>Atg	p.V71M		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	71					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCCTTCACGGTCACTGTC	0.577																																																0													193	147	162					14																	23902427		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.211G>A	14.37:g.23902427C>T	ENSP00000347507:p.Val71Met		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667248	0.47677	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.86769	-2.17	3.64	3.64	0.41730	Myosin, N-terminal, SH3-like (1);	.	.	.	.	D	0.93966	0.8068	M	0.93808	3.46	0.58432	D	0.999999	P	0.45957	0.869	P	0.56648	0.803	D	0.95633	0.8691	9	0.66056	D	0.02	.	15.868	0.79080	0.0:1.0:0.0:0.0	.	71	P12883	MYH7_HUMAN	M	71	ENSP00000347507:V71M	ENSP00000347507:V71M	V	-	1	0	MYH7	22972267	1.000000	0.71417	0.989000	0.46669	0.172000	0.22775	4.692000	0.61746	2.029000	0.59856	0.305000	0.20034	GTG		0.577	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23902427	C	T	23902427	3	4	279	1	0	0	0	0	1	0	0	0	10041	536	19	1	5744	1	MYH7	14	23902427	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08		23902427	83447113	78	16736											
SLC24A4	123041	broad.mit.edu	37	14	92915516	92915516	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr14:92915516A>G	ENST00000532405.1	+	10	1062	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	SLC24A4_ENST00000298877.1_Missense_Mutation_p.Y262C|SLC24A4_ENST00000351924.5_Intron|SLC24A4_ENST00000393265.2_Missense_Mutation_p.Y215C|SLC24A4_ENST00000531433.1_Intron			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	279					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AATGATTTCTATGACGGTAGC	0.498																																					NSCLC(10;315 435 10383 28450 38798)											0													132	98	109					14																	92915516		2203	4300	6503	SO:0001583	missense	123041			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.836A>G	14.37:g.92915516A>G	ENSP00000431840:p.Tyr279Cys		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905719	0.33628	.	.	ENSG00000140090	ENST00000393265;ENST00000532405;ENST00000298877;ENST00000318079	T;T;T	0.67345	-0.26;0.17;-0.25	5.49	0.294	0.15747	.	1.322690	0.04388	N	0.361872	T	0.47911	0.1471	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11012	-1.0605	10	0.37606	T	0.19	.	10.1215	0.42623	0.7808:0.0:0.2192:0.0	.	279	Q8NFF2	NCKX4_HUMAN	C	215;279;262;131	ENSP00000376948:Y215C;ENSP00000431840:Y279C;ENSP00000298877:Y262C	ENSP00000298877:Y262C	Y	+	2	0	SLC24A4	91985269	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	0.825000	0.27393	0.078000	0.16900	-0.366000	0.07423	TAT		0.498	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		G	92915516	A	G	92915516	3	3	279	1	0	0	0	0	1	0	0	0	14474	449	16	3	823	3	SLC24A4	14	92915516	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08	69013089	92915516	14434024	79	16737											
ITPK1	3705	broad.mit.edu	37	14	93483124	93483124	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr14:93483124T>G	ENST00000267615.6	-	4	316	c.143A>C	c.(142-144)gAg>gCg	p.E48A	ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.E48A|ITPK1_ENST00000354313.3_Missense_Mutation_p.E48A			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	48					blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GCCCTGCTCCTCGATCGGCCG	0.582																																																0													109	90	96					14																	93483124		2203	4300	6503	SO:0001583	missense	3705			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.143A>C	14.37:g.93483124T>G	ENSP00000267615:p.Glu48Ala		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843464	0.71488	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000267615;ENST00000311458;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	.	.	.	5.1	5.1	0.69264	.	0.050375	0.85682	D	0.000000	T	0.67627	0.2913	L	0.45137	1.4	0.80722	D	1	D;P	0.63046	0.992;0.556	D;B	0.79108	0.992;0.233	T	0.64871	-0.6305	9	0.30078	T	0.28	-2.9331	14.5742	0.68235	0.0:0.0:0.0:1.0	.	48;48	Q13572;Q13572-2	ITPK1_HUMAN;.	A	48;78;48;48;48;66;48;48;48	.	ENSP00000267615:E48A	E	-	2	0	ITPK1	92552877	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	7.326000	0.79133	1.902000	0.55061	0.459000	0.35465	GAG		0.582	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		G	93483124	T	G	93483124	3	3	279	1	0	0	0	0	1	0	0	0	7918	1551	54	5	1181	5	ITPK1	14	93483124	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	567608	93483124	13866416	80	16738											
GLRX5	51218	broad.mit.edu	37	14	96010330	96010330	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr14:96010330C>T	ENST00000331334.4	+	2	839	c.342C>T	c.(340-342)ctC>ctT	p.L114L	GLRX5_ENST00000553672.1_3'UTR	NM_016417.2	NP_057501.2	Q86SX6	GLRX5_HUMAN	glutaredoxin 5	114	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|hemopoiesis (GO:0030097)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|protein disulfide oxidoreductase activity (GO:0015035)			large_intestine(1)|lung(1)	2		all_cancers(154;0.135)		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)		AAGTGTACCTCAATGGCGAGT	0.453																																																0													97	97	97					14																	96010330		2203	4300	6503	SO:0001819	synonymous_variant	51218			AF113691	CCDS9936.1	14q32.2	2007-08-16	2007-08-16	2005-11-11		ENSG00000182512			20134	protein-coding gene	gene with protein product		609588	"chromosome 14 open reading frame 87", "glutaredoxin 5 homolog (S. cerevisiae)"	C14orf87			Standard	NM_016417		Approved	PR01238, GRX5	uc001yem.1	Q86SX6		ENST00000331334.4:c.342C>T	14.37:g.96010330C>T			Q0X088|Q3YML0|Q86WY3|Q8IZ54	Silent	SNP	ENST00000331334.4	37	CCDS9936.1																																																																																				0.453	GLRX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414550.1			T	96010330	C	T	96010330	2	4	279	1	0	0	0	0	0	0	0	1	6464	813	29	2		2	GLRX5	14	96010330	Silent	SNP	C	TCGA-B8-5162-01A-01D-1421-08	2527206	96010330	11339210	81	16739											
MGA	23269	broad.mit.edu	37	15	41988785	41988785	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr15:41988785C>T	ENST00000570161.1	+	2	1577	c.1577C>T	c.(1576-1578)tCa>tTa	p.S526L	MGA_ENST00000219905.7_Missense_Mutation_p.S526L|MGA_ENST00000545763.1_Missense_Mutation_p.S526L|MGA_ENST00000389936.4_Missense_Mutation_p.S526L|MGA_ENST00000566586.1_Missense_Mutation_p.S526L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCAAGGAATCAGAAAATGGT	0.378																																																0													70	63	66					15																	41988785		1846	4096	5942	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1577C>T	15.37:g.41988785C>T	ENSP00000457035:p.Ser526Leu		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082387	0.55861	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83755	-1.75;-1.76;-1.75	5.54	4.43	0.53597	.	0.999789	0.08089	N	0.999596	T	0.78007	0.4216	L	0.27053	0.805	0.28489	N	0.914562	P;P	0.39737	0.685;0.558	B;B	0.39152	0.292;0.153	T	0.72750	-0.4199	10	0.87932	D	0	.	15.2654	0.73657	0.0:0.9213:0.0:0.0787	.	526;526	F5H7K2;E7ENI0	.;.	L	526	ENSP00000219905:S526L;ENSP00000374586:S526L;ENSP00000442467:S526L	ENSP00000219905:S526L	S	+	2	0	MGA	39776077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.094000	0.41719	2.607000	0.88179	0.462000	0.41574	TCA		0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		T	41988785	C	T	41988785	3	4	279	1	0	0	0	0	1	0	0	0	9542	838	29	2	1583	2	MGA	15	41988785	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08		41988785	60542607	82	16740											
ZNF609	23060	broad.mit.edu	37	15	64967791	64967791	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr15:64967791C>A	ENST00000326648.3	+	4	2866	c.2738C>A	c.(2737-2739)cCc>cAc	p.P913H		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	913						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTCTGAACCCCAGCAGCCAG	0.507																																																0													83	89	87					15																	64967791		2203	4299	6502	SO:0001583	missense	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2738C>A	15.37:g.64967791C>A	ENSP00000316527:p.Pro913His		Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193204	0.58017	.	.	ENSG00000180357	ENST00000326648	T	0.54866	0.55	5.95	5.95	0.96441	.	0.245827	0.49305	D	0.000153	T	0.53722	0.1814	L	0.29908	0.895	0.44221	D	0.997058	P	0.40875	0.731	P	0.46479	0.518	T	0.51100	-0.8748	10	0.49607	T	0.09	-3.127	20.3854	0.98941	0.0:1.0:0.0:0.0	.	913	O15014	ZN609_HUMAN	H	913	ENSP00000316527:P913H	ENSP00000316527:P913H	P	+	2	0	ZNF609	62754844	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	5.872000	0.69636	2.825000	0.97269	0.655000	0.94253	CCC		0.507	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		A	64967791	C	A	64967791	3	1	279	1	0	0	0	0	1	0	0	0	18040	623	22	4	2752	4	ZNF609	15	64967791	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	22979006	64967791	37563601	83	16741											
FEM1B	10116	broad.mit.edu	37	15	68582628	68582628	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr15:68582628C>A	ENST00000306917.4	+	2	1547	c.932C>A	c.(931-933)cCt>cAt	p.P311H		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	311					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGTAGAAATCCTCAGGAACTG	0.418																																																0													86	83	84					15																	68582628		2200	4298	6498	SO:0001583	missense	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.932C>A	15.37:g.68582628C>A	ENSP00000307298:p.Pro311His		O43146	Missense_Mutation	SNP	ENST00000306917.4	37	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627232	0.28978	.	.	ENSG00000169018	ENST00000306917	T	0.41400	1.0	5.92	5.92	0.95590	.	0.110131	0.64402	D	0.000008	T	0.40067	0.1102	L	0.53249	1.67	0.42091	D	0.991295	P	0.43287	0.802	B	0.38056	0.264	T	0.18713	-1.0328	10	0.19147	T	0.46	-22.9305	18.8866	0.92381	0.0:1.0:0.0:0.0	.	311	Q9UK73	FEM1B_HUMAN	H	311	ENSP00000307298:P311H	ENSP00000307298:P311H	P	+	2	0	FEM1B	66369682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.147000	0.50639	2.797000	0.96272	0.555000	0.69702	CCT		0.418	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			A	68582628	C	A	68582628	3	1	279	1	0	0	0	0	1	0	0	0	5812	681	24	4	938	4	FEM1B	15	68582628	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	3614837	68582628	33948764	84	16742											
GTF3C1	2975	broad.mit.edu	37	16	27523215	27523215	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr16:27523215G>A	ENST00000356183.4	-	7	996	c.981C>T	c.(979-981)gaC>gaT	p.D327D	GTF3C1_ENST00000561623.1_Silent_p.D327D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	327					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAACCATGACGTCGGTCCCTG	0.542																																																0													131	103	113					16																	27523215		2197	4300	6497	SO:0001819	synonymous_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.981C>T	16.37:g.27523215G>A			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	CCDS32414.1																																																																																				0.542	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		A	27523215	G	A	27523215	2	1	279	1	0	0	0	0	0	0	0	1	6874	1136	40	1		1	GTF3C1	16	27523215	Silent	SNP	G	TCGA-B8-5162-01A-01D-1421-08		27523215	62831538	85	16743											
TAOK2	9344	broad.mit.edu	37	16	29989600	29989600	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr16:29989600C>T	ENST00000308893.4	+	4	1275	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	TAOK2_ENST00000543033.1_Missense_Mutation_p.R78W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R78W|TAOK2_ENST00000416441.2_5'Flank	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAAGGAGGTGCGGTTCTTACA	0.577																																																0													229	204	213					16																	29989600		2197	4300	6497	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.232C>T	16.37:g.29989600C>T	ENSP00000310094:p.Arg78Trp		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206422	0.79127	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.67345	-0.26;-0.26;-0.26	5.79	5.79	0.91817	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071573	0.64402	D	0.000018	T	0.80576	0.4649	M	0.76938	2.355	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.998;1.0	D;P;D;D	0.76071	0.987;0.904;0.942;0.987	T	0.80795	-0.1223	9	.	.	.	.	12.2952	0.54842	0.2706:0.7294:0.0:0.0	.	262;78;78;78	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	W	78	ENSP00000310094:R78W;ENSP00000440336:R78W;ENSP00000279394:R78W	.	R	+	1	2	TAOK2	29897101	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.606000	0.74159	2.736000	0.93811	0.561000	0.74099	CGG		0.577	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		T	29989600	C	T	29989600	3	4	279	1	0	0	0	0	1	0	0	0	15553	759	27	1	242	1	TAOK2	16	29989600	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	2466385	29989600	60365153	86	16744											
FUS	2521	broad.mit.edu	37	16	31196376	31196376	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr16:31196376G>A	ENST00000254108.7	+	6	745	c.640G>A	c.(640-642)Gga>Aga	p.G214R	FUS_ENST00000380244.3_Missense_Mutation_p.G213R|FUS_ENST00000568685.1_Missense_Mutation_p.G214R|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	214	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GCAGGACCGTGGAggccgcgg	0.652			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																		Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	0													39	32	34					16																	31196376		2197	4300	6497	SO:0001583	missense	2521			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.640G>A	16.37:g.31196376G>A	ENSP00000254108:p.Gly214Arg		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	G	8.647	0.897380	0.17686	.	.	ENSG00000089280	ENST00000254108	D	0.99282	-5.68	5.89	5.89	0.94794	.	0.284524	0.32314	N	0.006262	D	0.97766	0.9267	L	0.54323	1.7	0.58432	D	0.999998	B;B;B;B	0.23735	0.037;0.063;0.037;0.09	B;B;B;B	0.25614	0.028;0.062;0.028;0.028	D	0.96444	0.9329	10	0.16420	T	0.52	-0.4857	13.0448	0.58920	0.077:0.0:0.923:0.0	.	214;213;214;212	Q6IBQ5;P35637-2;P35637;E7EUX0	.;.;FUS_HUMAN;.	R	214	ENSP00000254108:G214R	ENSP00000254108:G214R	G	+	1	0	FUS	31103877	1.000000	0.71417	0.999000	0.59377	0.363000	0.29612	3.729000	0.54999	2.783000	0.95769	0.655000	0.94253	GGA		0.652	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		A	31196376	G	A	31196376	3	1	279	1	0	0	0	0	1	0	0	0	6102	1349	47	2	662	2	FUS	16	31196376	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	1206776	31196376	59158377	87	16745											
ACAP1	9744	broad.mit.edu	37	17	7246852	7246852	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:7246852C>T	ENST00000158762.3	+	6	705	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	167	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCTGGGTACCGGGGACGGGC	0.657																																																0													45	53	50					17																	7246852		2203	4300	6503	SO:0001583	missense	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.499C>T	17.37:g.7246852C>T	ENSP00000158762:p.Arg167Trp		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857557	0.51376	.	.	ENSG00000072818	ENST00000158762	T	0.04454	3.62	5.13	5.13	0.70059	.	0.206544	0.38778	N	0.001574	T	0.08980	0.0222	M	0.62088	1.915	0.80722	D	1	D	0.54397	0.966	P	0.45474	0.482	T	0.00901	-1.1521	10	0.87932	D	0	.	11.535	0.50633	0.1789:0.8211:0.0:0.0	.	167	Q15027	ACAP1_HUMAN	W	167	ENSP00000158762:R167W	ENSP00000158762:R167W	R	+	1	2	ACAP1	7187576	0.996000	0.38824	1.000000	0.80357	0.348000	0.29142	1.054000	0.30455	2.571000	0.86741	0.563000	0.77884	CGG		0.657	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		T	7246852	C	T	7246852	3	4	279	1	0	0	0	0	1	0	0	0	118	643	23	1	521	1	ACAP1	17	7246852	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08		7246852	73948358	88	16746											
LLGL1	3996	broad.mit.edu	37	17	18144992	18144992	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:18144992C>T	ENST00000316843.4	+	18	2826	c.2730C>T	c.(2728-2730)agC>agT	p.S910S		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	910					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGGACATCAGCGGCATCGCTT	0.657																																																0													90	82	85					17																	18144992		2203	4300	6503	SO:0001819	synonymous_variant	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2730C>T	17.37:g.18144992C>T			A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	CCDS32586.1																																																																																				0.657	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			T	18144992	C	T	18144992	2	4	279	1	0	0	0	0	0	0	0	1	8835	767	27	1		1	LLGL1	17	18144992	Silent	SNP	C	TCGA-B8-5162-01A-01D-1421-08	10898140	18144992	63050218	89	16747											
FBXW10	10517	broad.mit.edu	37	17	18675803	18675803	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:18675803G>A	ENST00000395665.4	+	12	2306	c.2085G>A	c.(2083-2085)acG>acA	p.T695T	FBXW10_ENST00000395667.1_Silent_p.T695T|FBXW10_ENST00000301938.4_Silent_p.T642T|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000308799.4_Silent_p.T724T			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	695										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						Tggaaaaaacgaaacaaaaga	0.408																																																0													146	150	149					17																	18675803		2203	4300	6503	SO:0001819	synonymous_variant	10517			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2085G>A	17.37:g.18675803G>A			C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	ENST00000395665.4	37	CCDS11199.3																																																																																				0.408	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		A	18675803	G	A	18675803	2	1	279	1	0	0	0	0	0	0	0	1	5765	1045	37	1		1	FBXW10	17	18675803	Silent	SNP	G	TCGA-B8-5162-01A-01D-1421-08	530811	18675803	62519407	90	16748											
CCT6B	10693	broad.mit.edu	37	17	33266673	33266673	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:33266673C>A	ENST00000314144.5	-	9	1143	c.1028G>T	c.(1027-1029)tGc>tTc	p.C343F	CCT6B_ENST00000421975.3_Missense_Mutation_p.C306F|CCT6B_ENST00000436961.3_Missense_Mutation_p.C298F	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	343					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ATGTCCCAAGCAATCTACAGT	0.363																																																0													112	97	102					17																	33266673		2203	4300	6503	SO:0001583	missense	10693			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1028G>T	17.37:g.33266673C>A	ENSP00000327191:p.Cys343Phe		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794285	0.31777	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.78364	-1.17;-1.17;-1.17	4.7	3.57	0.40892	.	0.130780	0.64402	D	0.000001	T	0.79155	0.4398	M	0.89214	3.015	0.49051	D	0.999749	B;P;P	0.42556	0.007;0.598;0.783	B;B;P	0.44422	0.053;0.279;0.449	T	0.76217	-0.3040	10	0.09843	T	0.71	-0.0356	8.8526	0.35210	0.0:0.8577:0.0:0.1423	.	298;306;343	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	F	306;343;298	ENSP00000398044:C306F;ENSP00000327191:C343F;ENSP00000400917:C298F	ENSP00000327191:C343F	C	-	2	0	CCT6B	30290786	1.000000	0.71417	0.977000	0.42913	0.976000	0.68499	3.093000	0.50217	1.076000	0.40961	0.563000	0.77884	TGC		0.363	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		A	33266673	C	A	33266673	3	1	279	1	0	0	0	0	1	0	0	0	2960	710	25	4	588	4	CCT6B	17	33266673	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	14590870	33266673	47928537	91	16749											
AP2B1	163	broad.mit.edu	37	17	33935330	33935330	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:33935330A>T	ENST00000262325.7	+	5	1002	c.449A>T	c.(448-450)gAt>gTt	p.D150V	AP2B1_ENST00000537622.2_Missense_Mutation_p.D150V|AP2B1_ENST00000538556.1_Missense_Mutation_p.D93V|AP2B1_ENST00000589344.1_Missense_Mutation_p.D150V|AP2B1_ENST00000592545.1_Missense_Mutation_p.D112V|AP2B1_ENST00000312678.8_Missense_Mutation_p.D150V	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	150					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AAACTCCATGATATCAATGCC	0.433																																																0													105	108	107					17																	33935330		2203	4300	6503	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.449A>T	17.37:g.33935330A>T	ENSP00000262325:p.Asp150Val		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.574458	0.65878	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.41	5.41	0.78517	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.044686	0.85682	N	0.000000	T	0.55481	0.1923	M	0.86502	2.82	0.80722	D	1	D;B;B	0.58620	0.983;0.001;0.0	D;B;B	0.67900	0.954;0.012;0.001	T	0.64028	-0.6503	10	0.87932	D	0	-1.8548	14.6718	0.68951	1.0:0.0:0.0:0.0	.	112;150;150	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	V	150;150;93;150	ENSP00000262325:D150V;ENSP00000314414:D150V;ENSP00000440563:D93V;ENSP00000437413:D150V	ENSP00000262325:D150V	D	+	2	0	AP2B1	30959443	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.239000	0.95389	2.060000	0.61445	0.529000	0.55759	GAT		0.433	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			T	33935330	A	T	33935330	3	4	279	1	0	0	0	0	1	0	0	0	741	333	12	5	463	5	AP2B1	17	33935330	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08	668657	33935330	47259880	92	16750											
SLC25A39	51629	broad.mit.edu	37	17	42397438	42397438	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:42397438C>T	ENST00000377095.5	-	12	1130	c.1011G>A	c.(1009-1011)atG>atA	p.M337I	SLC25A39_ENST00000225308.8_Missense_Mutation_p.M329I|SLC25A39_ENST00000586016.1_Missense_Mutation_p.M205I|SLC25A39_ENST00000590194.1_Missense_Mutation_p.M329I|SLC25A39_ENST00000537904.2_Missense_Mutation_p.M314I	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	337					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGGTGCTGATCATGATGGCAC	0.617																																																0													85	86	85					17																	42397438		2203	4300	6503	SO:0001583	missense	51629			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.1011G>A	17.37:g.42397438C>T	ENSP00000366299:p.Met337Ile		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258771	0.95368	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.78364	-1.17;-1.17;-1.17	5.25	5.25	0.73442	Mitochondrial carrier domain (2);	0.044258	0.85682	D	0.000000	D	0.86912	0.6047	M	0.62088	1.915	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.987	D;D;P	0.79108	0.992;0.992;0.869	D	0.87570	0.2477	10	0.72032	D;D	0.01;0.01	-23.9532	18.6566	0.91456	0.0:1.0:0.0:0.0	.	314;337;329	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	I	329;337;314	ENSP00000225308:M329I;ENSP00000366299:M337I;ENSP00000444540:M314I	ENSP00000225308:M329I;ENSP00000225308:M329I	M	-	3	0	SLC25A39	39752964	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.440000	0.80464	2.724000	0.93272	0.563000	0.77884	ATG		0.617	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		T	42397438	C	T	42397438	3	4	279	1	0	0	0	0	1	0	0	0	14509	826	29	2	72	2	SLC25A39	17	42397438	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	8462108	42397438	38797772	93	16751											
DGKE	8526	broad.mit.edu	37	17	54939989	54939989	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:54939989C>G	ENST00000284061.3	+	12	1721	c.1541C>G	c.(1540-1542)tCc>tGc	p.S514C		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	514					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTGAAGTGCTCCATGATGCCA	0.438																																																0													31	29	30					17																	54939989		2202	4300	6502	SO:0001583	missense	8526			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1541C>G	17.37:g.54939989C>G	ENSP00000284061:p.Ser514Cys		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804888	0.90623	.	.	ENSG00000153933	ENST00000284061	T	0.47177	0.85	5.8	5.8	0.92144	Diacylglycerol kinase, accessory domain (2);	0.053371	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48877	1.53	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.64415	-0.6413	10	0.62326	D	0.03	.	20.1103	0.97910	0.0:1.0:0.0:0.0	.	514	P52429	DGKE_HUMAN	C	514	ENSP00000284061:S514C	ENSP00000284061:S514C	S	+	2	0	DGKE	52294988	1.000000	0.71417	0.975000	0.42487	0.986000	0.74619	7.372000	0.79612	2.746000	0.94184	0.644000	0.83932	TCC		0.438	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		G	54939989	C	G	54939989	3	3	279	1	0	0	0	0	1	0	0	0	4470	855	30	4	1583	4	DGKE	17	54939989	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	12542551	54939989	26255221	94	16752											
JMJD6	23210	broad.mit.edu	37	17	74720093	74720093	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr17:74720093T>G	ENST00000397625.4	-	3	680	c.566A>C	c.(565-567)gAc>gCc	p.D189A	METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000588822.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.D189A|JMJD6_ENST00000445478.2_Missense_Mutation_p.D189A|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588302.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	189	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCCCAGAGGGTCGATGTGAAT	0.522																																																0													111	108	109					17																	74720093		1942	4144	6086	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.566A>C	17.37:g.74720093T>G	ENSP00000380750:p.Asp189Ala		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697800	0.88830	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	D;D	0.88124	-2.34;-2.34	5.26	5.26	0.73747	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.044321	0.85682	D	0.000000	D	0.96306	0.8795	H	0.98701	4.305	0.80722	D	1	D;D;D	0.76494	0.999;0.987;0.998	D;P;D	0.79108	0.992;0.893;0.954	D	0.98061	1.0393	10	0.87932	D	0	-0.2225	15.1861	0.73002	0.0:0.0:0.0:1.0	.	189;189;189	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	A	189	ENSP00000394085:D189A;ENSP00000380750:D189A	ENSP00000302916:D189A	D	-	2	0	JMJD6	72231688	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	8.029000	0.88807	1.975000	0.57531	0.523000	0.50628	GAC		0.522	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		G	74720093	T	G	74720093	3	3	279	1	0	0	0	0	1	0	0	0	7955	1667	58	5	702	5	JMJD6	17	74720093	Missense_Mutation	SNP	T	TCGA-B8-5162-01A-01D-1421-08	19780104	74720093	6475117	95	16753											
FAM59A	64762	broad.mit.edu	37	18	29890226	29890226	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr18:29890226C>T	ENST00000269209.6	-	3	326	c.323G>A	c.(322-324)aGt>aAt	p.S108N	GAREM_ENST00000399218.4_Missense_Mutation_p.S108N|GAREM_ENST00000578619.1_5'UTR			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	108	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CTCCTCCACACTGTTGAAATA	0.418																																																0													244	210	221					18																	29890226		2203	4300	6503	SO:0001583	missense	64762			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.323G>A	18.37:g.29890226C>T	ENSP00000269209:p.Ser108Asn		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200007	0.94997	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.19105	2.17;2.17	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.77616	2.38	0.80722	D	1	D;D	0.76494	0.999;0.961	D;D	0.83275	0.996;0.956	T	0.52480	-0.8570	10	0.87932	D	0	-16.913	19.9625	0.97256	0.0:1.0:0.0:0.0	.	108;108	Q9H706;Q9H706-3	FA59A_HUMAN;.	N	108	ENSP00000382165:S108N;ENSP00000269209:S108N	ENSP00000269209:S108N	S	-	2	0	FAM59A	28144224	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	7.420000	0.80191	2.726000	0.93360	0.655000	0.94253	AGT		0.418	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		T	29890226	C	T	29890226	3	4	279	1	0	0	0	0	1	0	0	0	5594	565	20	2	2320	2	FAM59A	18	29890226	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08		29890226	48187022	96	16754											
ELAVL3	1995	broad.mit.edu	37	19	11565539	11565539	+	Silent	SNP	C	C	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr19:11565539C>T	ENST00000359227.3	-	7	1330	c.906G>A	c.(904-906)caG>caA	p.Q302Q	ELAVL3_ENST00000438662.2_Silent_p.Q295Q	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	302	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCCCGAACAGCTGCCACAGCA	0.632																																																0													137	93	108					19																	11565539		2203	4300	6503	SO:0001819	synonymous_variant	1995				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.906G>A	19.37:g.11565539C>T			Q16135|Q96CL8|Q96QS9	Silent	SNP	ENST00000359227.3	37	CCDS32912.1																																																																																				0.632	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		T	11565539	C	T	11565539	2	4	279	1	0	0	0	0	0	0	0	1	5053	796	28	2		2	ELAVL3	19	11565539	Silent	SNP	C	TCGA-B8-5162-01A-01D-1421-08		11565539	47563444	97	16755											
ZNF226	7769	broad.mit.edu	37	19	44680231	44680231	+	Silent	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr19:44680231G>A	ENST00000590089.1	+	7	1183	c.816G>A	c.(814-816)caG>caA	p.Q272Q	ZNF226_ENST00000337433.5_Silent_p.Q272Q|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.Q272Q			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TTCATCAGCAGTTACAATCAG	0.418																																					Pancreas(115;581 1665 13228 19278 50070)											0													59	59	59					19																	44680231		2021	4215	6236	SO:0001819	synonymous_variant	7769			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.816G>A	19.37:g.44680231G>A			Q8WWE6|Q96TE6|Q9NS44	Silent	SNP	ENST00000590089.1	37	CCDS46102.1																																																																																				0.418	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			A	44680231	G	A	44680231	2	1	279	1	0	0	0	0	0	0	0	1	17785	1020	36	2		2	ZNF226	19	44680231	Silent	SNP	G	TCGA-B8-5162-01A-01D-1421-08	33114692	44680231	14448752	98	16756											
C5AR1	728	broad.mit.edu	37	19	47823040	47823040	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr19:47823040C>G	ENST00000355085.3	+	2	28	c.6C>G	c.(4-6)gaC>gaG	p.D2E		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	2			D -> N (in dbSNP:rs4467185). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1847994, ECO:0000269|PubMed:2007135, ECO:0000269|PubMed:8383526, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCCCTTAGGACTCCTTCAATT	0.537																																																0													97	89	92					19																	47823040		2203	4300	6503	SO:0001583	missense	728				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.6C>G	19.37:g.47823040C>G	ENSP00000347197:p.Asp2Glu			Missense_Mutation	SNP	ENST00000355085.3	37	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545218	0.27652	.	.	ENSG00000197405	ENST00000355085	T	0.37411	1.2	3.56	-3.56	0.04626	.	10.915400	0.00357	N	0.000023	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.22208	-1.0223	10	0.06625	T	0.88	.	5.812	0.18471	0.0:0.1973:0.5118:0.2909	.	2	P21730	C5AR_HUMAN	E	2	ENSP00000347197:D2E	ENSP00000347197:D2E	D	+	3	2	C5AR1	52514880	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.663000	0.00849	-0.363000	0.08101	-0.373000	0.07131	GAC		0.537	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		G	47823040	C	G	47823040	3	3	279	1	0	0	0	0	1	0	0	0	2283	579	20	4	11	4	C5AR1	19	47823040	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	3142809	47823040	11305943	99	16757											
UBOX5	22888	broad.mit.edu	37	20	3102446	3102446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr20:3102446G>T	ENST00000217173.2	-	3	1310	c.839C>A	c.(838-840)tCa>tAa	p.S280*	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Nonsense_Mutation_p.S280*	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						GACCTTGCCTGAGGGCAGCAG	0.577																																																0													50	46	47					20																	3102446		2203	4300	6503	SO:0001587	stop_gained	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.839C>A	20.37:g.3102446G>T	ENSP00000217173:p.Ser280*			Nonsense_Mutation	SNP	ENST00000217173.2	37	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	G	40	8.027999	0.98619	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	.	.	.	5.42	5.42	0.78866	.	0.126983	0.52532	U	0.000070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4542	19.2336	0.93849	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000217173:S280X	S	-	2	0	UBOX5	3050446	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.274000	0.72587	2.534000	0.85438	0.563000	0.77884	TCA		0.577	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		T	3102446	G	T	3102446	4	4	279	1	0	0	0	0	0	1	0	0	16899	1294	45	4	798	4	UBOX5	20	3102446	Nonsense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08		3102446	59923074	100	16758											
CEP250	11190	broad.mit.edu	37	20	34091340	34091340	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr20:34091340G>A	ENST00000397527.1	+	30	5863	c.5143G>A	c.(5143-5145)Ggc>Agc	p.G1715S	CEP250_ENST00000342580.4_Missense_Mutation_p.G1659S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1715	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAAGGGAAGGGCCCAAGTAA	0.572																																																0													103	99	101					20																	34091340		2203	4300	6503	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5143G>A	20.37:g.34091340G>A	ENSP00000380661:p.Gly1715Ser		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495339	0.26774	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.39997	3.06;3.06;1.05	4.51	3.52	0.40303	.	0.191193	0.36815	N	0.002390	T	0.19366	0.0465	N	0.12746	0.255	0.23685	N	0.997117	B	0.27997	0.197	B	0.25140	0.058	T	0.12091	-1.0561	10	0.19590	T	0.45	.	4.8247	0.13410	0.5217:0.0:0.4783:0.0	.	1715	Q9BV73	CP250_HUMAN	S	1715;1659;203	ENSP00000380661:G1715S;ENSP00000341541:G1659S;ENSP00000395992:G203S	ENSP00000341541:G1659S	G	+	1	0	CEP250	33554754	0.997000	0.39634	1.000000	0.80357	0.868000	0.49771	0.689000	0.25437	0.997000	0.38969	0.455000	0.32223	GGC		0.572	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		A	34091340	G	A	34091340	3	1	279	1	0	0	0	0	1	0	0	0	3254	1232	43	2	5249	2	CEP250	20	34091340	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08	30988894	34091340	28934180	101	16759											
SFRS15	57466	broad.mit.edu	37	21	33064127	33064132	+	Splice_Site	DEL	TACCTT	TACCTT	-			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr21:33064127_33064132delTACCTT	ENST00000286835.7	-	14	2108_2111	c.1726_1729delAAGGTA	c.(1726-1731)aaggta>ta	p.KV576del	SCAF4_ENST00000399804.1_Splice_Site_p.KV576del|SCAF4_ENST00000434667.3_Splice_Site_p.KV561del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	576	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGTAAGACTGTACCTTTATGGATTTC	0.364																																																0																																										SO:0001630	splice_region_variant	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1728+1AAGGTA>-	21.37:g.33064127_33064132delTACCTT			C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Splice_Site	DEL	ENST00000286835.7	37	CCDS33537.1																																																																																				0.364	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	In_Frame_Del	-	33064132	TACCTT	-	33064127	8	5	279	1	0	1	0	1	0	0	1	0	14177	1653	57	0		0	SFRS15	21	33064127	Splice_Site	DEL	TACCTT	TCGA-B8-5162-01A-01D-1421-08		33064127	15065768	102	16760											
TST	7263	broad.mit.edu	37	22	37407193	37407193	+	Missense_Mutation	SNP	C	C	T	rs144544206		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr22:37407193C>T	ENST00000403892.3	-	2	1503	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	Y_RNA_ENST00000516603.1_RNA|TST_ENST00000249042.3_Missense_Mutation_p.V257M	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	257	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GCCAAGGCCACGTGGCAGGCG	0.647																																																0								C	MET/VAL	0,4406		0,0,2203	47	38	41		769	-1.5	0.1	22	dbSNP_134	41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TST	NM_003312.4	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	257/298	37407193	2,13004	2203	4300	6503	SO:0001583	missense	7263			Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.769G>A	22.37:g.37407193C>T	ENSP00000385828:p.Val257Met		B3KRM1|Q6IB06	Missense_Mutation	SNP	ENST00000403892.3	37	CCDS13938.1	.	.	.	.	.	.	.	.	.	.	C	8.869	0.948702	0.18356	0.0	2.33E-4	ENSG00000128311	ENST00000403892;ENST00000249042	T;T	0.46063	0.88;0.88	5.08	-1.52	0.08637	Rhodanese-like (5);	0.492152	0.22200	N	0.063243	T	0.38427	0.1040	M	0.83953	2.67	0.24179	N	0.995597	P	0.37330	0.59	B	0.33121	0.158	T	0.33574	-0.9863	10	0.87932	D	0	-1.2904	7.0479	0.25056	0.0:0.4094:0.1269:0.4637	.	257	Q16762	THTR_HUMAN	M	257	ENSP00000385828:V257M;ENSP00000249042:V257M	ENSP00000249042:V257M	V	-	1	0	TST	35737139	0.991000	0.36638	0.091000	0.20842	0.081000	0.17604	0.284000	0.18864	-0.558000	0.06118	-0.345000	0.07892	GTG		0.647	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			T	37407193	C	T	37407193	3	4	279	1	0	0	0	0	1	0	0	0	16678	536	19	1	128	1	TST	22	37407193	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08		37407193	13897373	103	16761											
TRIOBP	11078	broad.mit.edu	37	22	38119653	38119653	+	Missense_Mutation	SNP	C	C	G	rs578179660		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr22:38119653C>G	ENST00000406386.3	+	7	1345	c.1090C>G	c.(1090-1092)Ccc>Gcc	p.P364A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	364					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCAGGACAACCCCCAAACTTC	0.572																																																0													126	135	132					22																	38119653		1879	4111	5990	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1090C>G	22.37:g.38119653C>G	ENSP00000384312:p.Pro364Ala		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526869	0.44969	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24538	1.85	4.2	0.511	0.16989	.	.	.	.	.	T	0.12774	0.0310	N	0.08118	0	0.29913	N	0.823409	B	0.21225	0.053	B	0.18561	0.022	T	0.17592	-1.0364	9	0.72032	D	0.01	.	8.2638	0.31801	0.1708:0.5206:0.3086:0.0	.	364	Q9H2D6	TARA_HUMAN	A	364	ENSP00000384312:P364A	ENSP00000384312:P364A	P	+	1	0	TRIOBP	36449599	0.000000	0.05858	0.001000	0.08648	0.890000	0.51754	-0.705000	0.05052	-0.026000	0.13895	0.400000	0.26472	CCC		0.572	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			G	38119653	C	G	38119653	3	3	279	1	0	0	0	0	1	0	0	0	16558	623	22	4	1108	4	TRIOBP	22	38119653	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	712460	38119653	13184913	104	16762											
L3MBTL2	83746	broad.mit.edu	37	22	41613163	41613163	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chr22:41613163A>G	ENST00000216237.5	+	5	715	c.557A>G	c.(556-558)aAg>aGg	p.K186R	RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	186					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGTTCCTGAAGGATCACAGT	0.632																																																0													84	74	78					22																	41613163		2203	4300	6503	SO:0001583	missense	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.557A>G	22.37:g.41613163A>G	ENSP00000216237:p.Lys186Arg		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126709	0.56721	.	.	ENSG00000100395	ENST00000216237	T	0.18174	2.23	5.25	5.25	0.73442	.	0.740465	0.13868	N	0.357189	T	0.13030	0.0316	N	0.24115	0.695	0.36132	D	0.846218	B;B	0.19331	0.035;0.006	B;B	0.19391	0.025;0.01	T	0.14615	-1.0466	10	0.31617	T	0.26	.	11.8161	0.52211	0.8536:0.1464:0.0:0.0	.	186;186	Q969R5-3;Q969R5	.;LMBL2_HUMAN	R	186	ENSP00000216237:K186R	ENSP00000216237:K186R	K	+	2	0	L3MBTL2	39943109	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.254000	0.58798	2.288000	0.76882	0.533000	0.62120	AAG		0.632	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		G	41613163	A	G	41613163	3	3	279	1	0	0	0	0	1	0	0	0	8594	72	3	3	575	3	L3MBTL2	22	41613163	Missense_Mutation	SNP	A	TCGA-B8-5162-01A-01D-1421-08	3493510	41613163	9691403	105	16763											
ACRC	93953	broad.mit.edu	37	X	70823810	70823810	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chrX:70823810G>A	ENST00000373695.1	+	7	1220	c.683G>A	c.(682-684)aGc>aAc	p.S228N	ACRC_ENST00000373696.3_Missense_Mutation_p.S228N			Q96QF7	ACRC_HUMAN	acidic repeat containing	228	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.517																																																0													297	248	265					X																	70823810		2203	4300	6503	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.683G>A	X.37:g.70823810G>A	ENSP00000362799:p.Ser228Asn		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	-	4.060	0.008825	0.07912	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.29917	1.55;1.55	0.131	0.131	0.14755	.	.	.	.	.	T	0.10423	0.0255	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32666	-0.9898	9	0.09590	T	0.72	.	4.7321	0.12970	0.3535:0.0:0.6465:0.0	.	228	Q96QF7	ACRC_HUMAN	N	228	ENSP00000362800:S228N;ENSP00000362799:S228N	ENSP00000362799:S228N	S	+	2	0	ACRC	70740535	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-2.026000	0.01434	-1.744000	0.01338	-1.764000	0.00666	AGC		0.517	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			A	70823810	G	A	70823810	3	1	279	1	0	0	0	0	1	0	0	0	171	971	34	2	709	2	ACRC	23	70823810	Missense_Mutation	SNP	G	TCGA-B8-5162-01A-01D-1421-08		70823810	84446750	106	16764											
PHKA1	5255	broad.mit.edu	37	X	71830970	71830970	+	Nonsense_Mutation	SNP	C	C	A	rs200422936		TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chrX:71830970C>A	ENST00000373542.4	-	22	2593	c.2434G>T	c.(2434-2436)Gag>Tag	p.E812*	PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E812*|PHKA1_ENST00000373545.3_Nonsense_Mutation_p.E753*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E812*|PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E753*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	812	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCATACAGCTCGGTAAGAAGC	0.433																																																0													89	76	80					X																	71830970		2203	4300	6503	SO:0001587	stop_gained	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2434G>T	X.37:g.71830970C>A	ENSP00000362643:p.Glu812*		B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	42	9.573632	0.99208	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	5.85	5.85	0.93711	.	0.231983	0.44688	D	0.000428	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-4.4512	16.3512	0.83208	0.0:1.0:0.0:0.0	.	.	.	.	X	753;812;753;812;812	.	ENSP00000342469:E812X	E	-	1	0	PHKA1	71747695	1.000000	0.71417	0.998000	0.56505	0.362000	0.29581	5.646000	0.67916	2.467000	0.83353	0.600000	0.82982	GAG		0.433	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			A	71830970	C	A	71830970	4	1	279	1	0	0	0	0	0	1	0	0	11845	893	31	4	1281	4	PHKA1	23	71830970	Nonsense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	1007160	71830970	83439590	107	16765											
TSC22D3	1831	broad.mit.edu	37	X	106957762	106957762	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5162-01A-01D-1421-08	TCGA-B8-5162-10A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	451e7b1a-dbc5-4360-81fe-861b1d825ed4	26b27e79-d6a3-42f4-8c2b-a93035b1a669	g.chrX:106957762C>G	ENST00000372397.2	-	3	715	c.392G>C	c.(391-393)gGt>gCt	p.G131A	TSC22D3_ENST00000372390.4_Missense_Mutation_p.G74A|TSC22D3_ENST00000514426.1_Missense_Mutation_p.G129A|TSC22D3_ENST00000372383.4_Missense_Mutation_p.G197A|TSC22D3_ENST00000372384.2_Missense_Mutation_p.G197A|TSC22D3_ENST00000372382.4_Missense_Mutation_p.G107A|TSC22D3_ENST00000315660.4_Missense_Mutation_p.G197A|TSC22D3_ENST00000506081.1_Missense_Mutation_p.G197A	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	131					body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						CACCGCAGAACCACCAGGGGC	0.557																																																0													42	40	41					X																	106957762		2203	4300	6503	SO:0001583	missense	1831			Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"glucocorticoid-induced leucine zipper"	300506	"delta sleep inducing peptide, immunoreactor"	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.392G>C	X.37:g.106957762C>G	ENSP00000361474:p.Gly131Ala		Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	SNP	ENST00000372397.2	37	CCDS14531.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283702	0.40394	.	.	ENSG00000157514	ENST00000372390;ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426	.	.	.	5.52	4.66	0.58398	.	0.097409	0.64402	D	0.000001	T	0.65407	0.2688	L	0.53249	1.67	0.47407	D	0.999413	D;B	0.64830	0.994;0.001	P;B	0.60682	0.878;0.001	T	0.62177	-0.6909	9	0.28530	T	0.3	.	11.1848	0.48648	0.0:0.9084:0.0:0.0916	.	197;131	Q99576-3;Q99576	.;T22D3_HUMAN	A	74;131;197;197;197;176;107;197;129	.	ENSP00000314655:G197A	G	-	2	0	TSC22D3	106844418	1.000000	0.71417	0.913000	0.36048	0.901000	0.52897	4.608000	0.61141	1.224000	0.43551	0.600000	0.82982	GGT		0.557	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057843.2	NM_198057		G	106957762	C	G	106957762	3	3	279	1	0	0	0	0	1	0	0	0	16614	507	18	4	16	4	TSC22D3	23	106957762	Missense_Mutation	SNP	C	TCGA-B8-5162-01A-01D-1421-08	35126792	106957762	48312798	108	16766											
MTF1	4520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	38300878	38300878	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:38300878G>T	ENST00000373036.4	-	6	1003	c.863C>A	c.(862-864)cCc>cAc	p.P288H		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	288					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P288H(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCAGAAGAAGGGTCTTTCACC	0.363																																																1	Substitution - Missense(1)	kidney(1)											193	174	180					1																	38300878		2203	4300	6503	SO:0001583	missense	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.863C>A	1.37:g.38300878G>T	ENSP00000362127:p.Pro288His		B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961699	0.92791	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.17528	2.27	5.0	5.0	0.66597	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.89968	3.075	0.80722	D	1	D	0.63046	0.992	P	0.59948	0.866	T	0.61113	-0.7128	10	0.87932	D	0	.	18.3019	0.90167	0.0:0.0:1.0:0.0	.	288	Q14872	MTF1_HUMAN	H	288;156	ENSP00000362127:P288H	ENSP00000362127:P288H	P	-	2	0	MTF1	38073465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.669000	0.98622	2.316000	0.78162	0.650000	0.86243	CCC		0.363	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		T	38300878	G	T	38300878	3	4	280	1	0	0	0	0	1	0	0	0	9924	1232	43	4	1422	4	MTF1	1	38300878	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08		38300878	210949743	1	16767											
COL24A1	255631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	86591208	86591208	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:86591208G>A	ENST00000370571.2	-	3	1177	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P271S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	271					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.P271S(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATAGTTTGGGCGGGGGAGAG	0.398																																																1	Substitution - Missense(1)	kidney(1)											100	97	98					1																	86591208		1904	4115	6019	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.811C>T	1.37:g.86591208G>A	ENSP00000359603:p.Pro271Ser		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.199569	0.01581	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.15139	2.45;2.45	5.69	1.45	0.22620	.	0.206931	0.24530	N	0.037732	T	0.02012	0.0063	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.08055	0.003;0.002	T	0.41928	-0.9481	10	0.27785	T	0.31	.	1.0831	0.01647	0.2371:0.1256:0.4159:0.2214	.	271;271	F8WDM8;Q17RW2	.;COOA1_HUMAN	S	271	ENSP00000359603:P271S;ENSP00000392531:P271S	ENSP00000359603:P271S	P	-	1	0	COL24A1	86363796	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	0.417000	0.21214	0.759000	0.33084	0.563000	0.77884	CCC		0.398	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		A	86591208	G	A	86591208	3	1	280	1	0	0	0	0	1	0	0	0	3685	1203	42	2	4565	2	COL24A1	1	86591208	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	48290330	86591208	162659413	2	16768											
AGL	178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100336085	100336085	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:100336085A>T	ENST00000294724.4	+	6	1272	c.794A>T	c.(793-795)aAa>aTa	p.K265I	AGL_ENST00000361915.3_Missense_Mutation_p.K265I|AGL_ENST00000370163.3_Missense_Mutation_p.K265I|AGL_ENST00000370165.3_Missense_Mutation_p.K265I|AGL_ENST00000370161.2_Missense_Mutation_p.K249I|AGL_ENST00000361522.4_Missense_Mutation_p.K248I|AGL_ENST00000361302.3_Missense_Mutation_p.K249I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	265					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.K265I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCAGAAGGGAAATACAAAGAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											102	102	102					1																	100336085		2203	4300	6503	SO:0001583	missense	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.794A>T	1.37:g.100336085A>T	ENSP00000294724:p.Lys265Ile		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	a	13.59	2.281263	0.40394	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.37	4.25	0.50352	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.169474	0.49305	D	0.000147	T	0.67543	0.2904	M	0.77103	2.36	0.36152	D	0.847539	B;B;B	0.33022	0.394;0.156;0.274	B;B;B	0.41619	0.361;0.185;0.197	T	0.68977	-0.5267	10	0.45353	T	0.12	.	10.1039	0.42521	0.8588:0.0:0.1412:0.0	.	248;249;265	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	I	265;265;265;265;249;249;248	ENSP00000355106:K265I;ENSP00000359184:K265I;ENSP00000359182:K265I;ENSP00000294724:K265I;ENSP00000354971:K249I;ENSP00000359180:K249I;ENSP00000354635:K248I	ENSP00000294724:K265I	K	+	2	0	AGL	100108673	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.912000	0.48782	0.982000	0.38575	0.477000	0.44152	AAA		0.383	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		T	100336085	A	T	100336085	3	4	280	1	0	0	0	0	1	0	0	0	384	14	1	5	881	5	AGL	1	100336085	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08	13744877	100336085	148914536	3	16769											
OTUD7B	56957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	149920966	149920966	+	Silent	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:149920966A>G	ENST00000369135.4	-	10	1437	c.1143T>C	c.(1141-1143)gaT>gaC	p.D381D		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	381	Catalytic.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D381D(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TATACTCTGAATCTGTAAGTG	0.453																																																1	Substitution - coding silent(1)	kidney(1)											62	64	64					1																	149920966		2171	4284	6455	SO:0001819	synonymous_variant	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1143T>C	1.37:g.149920966A>G			B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	CCDS41389.1																																																																																				0.453	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		G	149920966	A	G	149920966	2	3	280	1	0	0	0	0	0	0	0	1	11321	98	4	3		3	OTUD7B	1	149920966	Silent	SNP	A	TCGA-B8-5163-01A-01D-1421-08	49584881	149920966	99329655	4	16770											
DCAF6	55827	broad.mit.edu;hgsc.bcm.edu	37	1	167974003	167974003	+	Silent	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:167974003A>G	ENST00000312263.6	+	10	1554	c.1350A>G	c.(1348-1350)gcA>gcG	p.A450A	DCAF6_ENST00000367843.3_Silent_p.A450A|DCAF6_ENST00000432587.2_Silent_p.A419A|DCAF6_ENST00000367840.3_Silent_p.A450A	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	450					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.A450A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTGTTGAGGCATCTGGACACC	0.423																																																1	Substitution - coding silent(1)	kidney(1)											92	88	90					1																	167974003		2203	4299	6502	SO:0001819	synonymous_variant	55827			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1350A>G	1.37:g.167974003A>G			A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	CCDS30933.1																																																																																				0.423	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		G	167974003	A	G	167974003	2	3	280	1	0	0	0	0	0	0	0	1	4276	204	8	3		3	DCAF6	1	167974003	Silent	SNP	A	TCGA-B8-5163-01A-01D-1421-08	18053037	167974003	81276618	5	16771											
C4BPA	722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207300079	207300079	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:207300079A>C	ENST00000367070.3	+	7	922	c.728A>C	c.(727-729)gAt>gCt	p.D243A		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	243	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.D243A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CGCAAGCCAGATGTTTCACAT	0.383																																																1	Substitution - Missense(1)	kidney(1)											122	119	120					1																	207300079		2203	4300	6503	SO:0001583	missense	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.728A>C	1.37:g.207300079A>C	ENSP00000356037:p.Asp243Ala		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	A	8.887	0.952951	0.18431	.	.	ENSG00000123838	ENST00000367070	T	0.66638	-0.22	5.66	-2.16	0.07080	Complement control module (2);Sushi/SCR/CCP (3);	3.094740	0.00669	N	0.000627	T	0.47040	0.1424	N	0.21240	0.645	0.09310	N	1	B	0.31256	0.316	B	0.33568	0.166	T	0.18493	-1.0335	10	0.09843	T	0.71	.	2.1997	0.03920	0.3428:0.1309:0.0759:0.4503	.	243	P04003	C4BPA_HUMAN	A	243	ENSP00000356037:D243A	ENSP00000356037:D243A	D	+	2	0	C4BPA	205366702	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.295000	0.08298	-0.660000	0.05352	0.524000	0.50904	GAT		0.383	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			C	207300079	A	C	207300079	3	2	280	1	0	0	0	0	1	0	0	0	2251	333	12	5	750	5	C4BPA	1	207300079	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08	39326076	207300079	41950542	6	16772											
TARBP1	6894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234582578	234582578	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr1:234582578C>T	ENST00000040877.1	-	12	2104	c.2105G>A	c.(2104-2106)tGc>tAc	p.C702Y		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	702					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.C702Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTTCAACCTGCATGTGTTCAA	0.443																																																1	Substitution - Missense(1)	kidney(1)											149	129	136					1																	234582578		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2105G>A	1.37:g.234582578C>T	ENSP00000040877:p.Cys702Tyr		Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	8.024	0.760187	0.15846	.	.	ENSG00000059588	ENST00000040877	T	0.06849	3.25	5.2	3.23	0.37069	.	0.415497	0.28821	N	0.014028	T	0.12603	0.0306	L	0.54323	1.7	0.09310	N	1	P	0.51351	0.944	P	0.45913	0.497	T	0.06320	-1.0833	10	0.72032	D	0.01	-19.7645	13.2389	0.59985	0.0:0.6706:0.3294:0.0	.	702	Q13395	TARB1_HUMAN	Y	702	ENSP00000040877:C702Y	ENSP00000040877:C702Y	C	-	2	0	TARBP1	232649201	0.965000	0.33210	0.033000	0.17914	0.001000	0.01503	1.022000	0.30052	1.413000	0.46997	-0.211000	0.12701	TGC		0.443	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		T	234582578	C	T	234582578	3	4	280	1	0	0	0	0	1	0	0	0	15560	710	25	2	2836	2	TARBP1	1	234582578	Missense_Mutation	SNP	C	TCGA-B8-5163-01A-01D-1421-08	27282499	234582578	14668043	7	16773											
TTC15	51112	broad.mit.edu;hgsc.bcm.edu	37	2	3392356	3392356	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr2:3392356G>A	ENST00000324266.5	+	2	1157	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R321Q	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	321					vesicle-mediated transport (GO:0016192)			p.R321Q(1)									GGAGTCCTGCGGGCCGTGGCC	0.682																																																1	Substitution - Missense(1)	kidney(1)											27	25	26					2																	3392356		2200	4293	6493	SO:0001583	missense	0			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.962G>A	2.37:g.3392356G>A	ENSP00000324318:p.Arg321Gln		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321560	0.23994	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.42131	0.98;0.98	5.07	-1.57	0.08506	.	0.461131	0.25469	N	0.030460	T	0.19366	0.0465	N	0.08118	0	0.19300	N	0.99998	P;P;D	0.61080	0.577;0.749;0.989	B;B;P	0.47206	0.096;0.131;0.541	T	0.39702	-0.9601	10	0.13108	T	0.6	.	5.9531	0.19259	0.0:0.3123:0.136:0.5517	.	304;321;321	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	Q	321;304;321	ENSP00000371544:R321Q;ENSP00000324318:R321Q	ENSP00000303612:R304Q	R	+	2	0	TTC15	3371363	0.946000	0.32159	0.000000	0.03702	0.015000	0.08874	3.720000	0.54933	-0.333000	0.08476	-1.083000	0.02208	CGG		0.682	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		A	3392356	G	A	3392356	3	1	280	1	0	0	0	0	1	0	0	0	16687	1116	39	1	964	1	TTC15	2	3392356	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08		3392356	239807017	8	16774											
ALK	238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29420425	29420425	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr2:29420425C>G	ENST00000389048.3	-	27	4962	c.4056G>C	c.(4054-4056)aaG>aaC	p.K1352N	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1352	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K1352N(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CAGGGCAGTTCTTGGGTGGGT	0.443			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	1	Substitution - Missense(1)	kidney(1)											79	82	81					2																	29420425		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4056G>C	2.37:g.29420425C>G	ENSP00000373700:p.Lys1352Asn		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680866	0.68042	.	.	ENSG00000171094	ENST00000389048	D	0.83075	-1.68	5.8	4.82	0.62117	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	U	0.000146	D	0.82527	0.5056	L	0.39397	1.21	0.80722	D	1	P	0.49862	0.929	P	0.58780	0.845	T	0.79815	-0.1644	9	.	.	.	.	6.9993	0.24801	0.0:0.8076:0.0:0.1924	.	1352	Q9UM73	ALK_HUMAN	N	1352	ENSP00000373700:K1352N	.	K	-	3	2	ALK	29273929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.107000	0.41844	2.729000	0.93468	0.561000	0.74099	AAG		0.443	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		G	29420425	C	G	29420425	3	3	280	1	0	0	0	0	1	0	0	0	525	912	32	4	818	4	ALK	2	29420425	Missense_Mutation	SNP	C	TCGA-B8-5163-01A-01D-1421-08	26028069	29420425	213778948	9	16775											
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32640925	32640925	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr2:32640925A>G	ENST00000421745.2	+	10	2700	c.2566A>G	c.(2566-2568)Att>Gtt	p.I856V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	856					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.I828V(1)|p.I856V(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAGGACACAATTACCTCGCT	0.383																																					Pancreas(94;175 1509 16028 18060 45422)											2	Substitution - Missense(2)	kidney(2)											67	59	62					2																	32640925		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2566A>G	2.37:g.32640925A>G	ENSP00000393596:p.Ile856Val		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579880	0.28180	.	.	ENSG00000115760	ENST00000421745	T	0.74315	-0.83	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.59770	0.2218	N	0.14661	0.345	0.44825	D	0.997835	B	0.09022	0.002	B	0.08055	0.003	T	0.54906	-0.8223	10	0.29301	T	0.29	.	15.8741	0.79148	1.0:0.0:0.0:0.0	.	856	Q9NR09	BIRC6_HUMAN	V	856	ENSP00000393596:I856V	ENSP00000393596:I856V	I	+	1	0	BIRC6	32494429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.757000	0.68766	2.154000	0.67381	0.533000	0.62120	ATT		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		G	32640925	A	G	32640925	3	3	280	1	0	0	0	0	1	0	0	0	1438	101	4	3	2604	3	BIRC6	2	32640925	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08	3220500	32640925	210558448	10	16776											
KLRAQ1	129285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48698316	48698316	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr2:48698316G>A	ENST00000294952.8	+	10	1145	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	PPP1R21_ENST00000281394.4_Missense_Mutation_p.V330M|PPP1R21_ENST00000449090.2_Missense_Mutation_p.V330M	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	330						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.V330M(2)		endometrium(2)|kidney(4)|lung(9)	15						TGAGGATACTGTGACTGTCTT	0.383																																																2	Substitution - Missense(2)	kidney(2)											98	97	98					2																	48698316		2203	4300	6503	SO:0001583	missense	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.988G>A	2.37:g.48698316G>A	ENSP00000294952:p.Val330Met		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435299	0.83885	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.76572	0.4006	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.948;0.948	T	0.75227	-0.3392	9	0.48119	T	0.1	-20.9583	19.2914	0.94102	0.0:0.0:1.0:0.0	.	330;330;330;330;330	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	M	330	.	ENSP00000281394:V330M	V	+	1	0	KLRAQ1	48551820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.710000	0.68392	2.793000	0.96121	0.561000	0.74099	GTG		0.383	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		A	48698316	G	A	48698316	3	1	280	1	0	0	0	0	1	0	0	0	8415	1377	48	2	1026	2	KLRAQ1	2	48698316	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	16057391	48698316	194501057	11	16777											
SUCLG1	8802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	84668507	84668507	+	Missense_Mutation	SNP	G	G	T	rs376171433		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr2:84668507G>T	ENST00000393868.2	-	4	605	c.395C>A	c.(394-396)gCt>gAt	p.A132D		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	132					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.A132D(1)		kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGCCTCAATAGCTTCATTAAT	0.483																																					Ovarian(48;203 1101 37206 40305 50790)											1	Substitution - Missense(1)	kidney(1)											85	82	83					2																	84668507		2203	4300	6503	SO:0001583	missense	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.395C>A	2.37:g.84668507G>T	ENSP00000377446:p.Ala132Asp		Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687581	0.88639	.	.	ENSG00000163541	ENST00000393868	D	0.84873	-1.91	5.59	5.59	0.84812	CoA-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95424	0.8514	H	0.98238	4.18	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.71656	0.888;0.974	D	0.96791	0.9582	10	0.87932	D	0	-15.7758	17.4491	0.87587	0.0:0.0:1.0:0.0	.	132;132	B7Z438;P53597	.;SUCA_HUMAN	D	132	ENSP00000377446:A132D	ENSP00000377446:A132D	A	-	2	0	SUCLG1	84522018	1.000000	0.71417	0.961000	0.40146	0.668000	0.39293	9.804000	0.99143	2.793000	0.96121	0.561000	0.74099	GCT		0.483	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		T	84668507	G	T	84668507	3	4	280	1	0	0	0	0	1	0	0	0	15369	971	34	4	669	4	SUCLG1	2	84668507	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	35970191	84668507	158530866	12	16778											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188218	10188218	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr3:10188218G>T	ENST00000256474.2	+	2	1201	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	121	Involved in binding to CCT complex.		D -> G (in VHLD; type I; dbSNP:rs5030832). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.D121Y(6)|p.R120fs*38(1)|p.?(1)|p.D121_A122del(1)|p.R120fs*34(1)|p.R120fs*10(1)|p.L118_G123>P(1)|p.D121fs*38(1)|p.D121*(1)|p.W117fs*1(1)|p.A122fs*7(1)|p.D121fs*35(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCTCTTCAGAGATGCAGGGAC	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Deletion - Frameshift(7)|Substitution - Missense(6)|Deletion - In frame(1)|Substitution - Nonsense(1)|Unknown(1)|Complex - deletion inframe(1)	kidney(17)	GRCh37	CD962176|CM056724	VHL	D|M							184	171	176					3																	10188218		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.361G>T	3.37:g.10188218G>T	ENSP00000256474:p.Asp121Tyr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406908	0.62399	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99841	-7.09	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.050790	0.85682	D	0.000000	D	0.99782	0.9909	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96910	0.9666	10	0.87932	D	0	-24.4217	16.3181	0.82935	0.0:0.0:1.0:0.0	.	121	P40337	VHL_HUMAN	Y	121;39	ENSP00000256474:D121Y	ENSP00000256474:D121Y	D	+	1	0	VHL	10163218	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	7.274000	0.78538	2.530000	0.85305	0.563000	0.77884	GAT		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188218	G	T	10188218	3	4	280	1	0	0	0	0	1	0	0	0	17167	942	33	4	367	4	VHL	3	10188218	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08		10188218	187834212	13	16779											
AZI2	64343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	28368357	28368357	+	Silent	SNP	T	T	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr3:28368357T>C	ENST00000479665.1	-	7	1263	c.732A>G	c.(730-732)ctA>ctG	p.L244L	AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	244	Interaction with TBK1 and IKBKE.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)		p.L244L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TCAGTTTTCTTAGTAGTTCAG	0.388																																																1	Substitution - coding silent(1)	kidney(1)											259	237	244					3																	28368357		2203	4300	6503	SO:0001819	synonymous_variant	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.732A>G	3.37:g.28368357T>C			A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Silent	SNP	ENST00000479665.1	37	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	T	9.916	1.210819	0.22289	.	.	ENSG00000163512	ENST00000429369	.	.	.	5.83	-3.74	0.04385	.	.	.	.	.	T	0.48352	0.1495	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45131	-0.9282	4	.	.	.	-12.083	6.2402	0.20787	0.0:0.2143:0.3422:0.4435	.	.	.	.	E	42	.	.	K	-	1	0	AZI2	28343361	0.514000	0.26202	0.981000	0.43875	0.986000	0.74619	-0.561000	0.05957	-0.486000	0.06744	0.528000	0.53228	AAG		0.388	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		C	28368357	T	C	28368357	2	2	280	1	0	0	0	0	0	0	0	1	1241	1741	61	3		3	AZI2	3	28368357	Silent	SNP	T	TCGA-B8-5163-01A-01D-1421-08	18180139	28368357	169654073	14	16780											
C3orf67	200844	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	58899557	58899557	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr3:58899557T>A	ENST00000482387.1	-	2	148	c.52A>T	c.(52-54)Acc>Tcc	p.T18S	RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.T18S|C3orf67_ENST00000491845.1_Missense_Mutation_p.T18S|C3orf67_ENST00000472469.1_Intron|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	18								p.T18S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ATTTCACTGGTGAATGCTACT	0.383																																																1	Substitution - Missense(1)	kidney(1)											105	98	100					3																	58899557		2203	4300	6503	SO:0001583	missense	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.52A>T	3.37:g.58899557T>A	ENSP00000417122:p.Thr18Ser		B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.	.	.	.	.	.	.	.	.	.	T	25.2	4.615828	0.87359	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000491845;ENST00000471288	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	L	0.57536	1.79	0.53005	D	0.999969	D	0.89917	1.0	D	0.85130	0.997	T	0.68296	-0.5446	9	.	.	.	-12.5576	15.7319	0.77814	0.0:0.0:0.0:1.0	.	18	Q6ZVT6-2	.	S	18;18;18;143	ENSP00000295966:T18S;ENSP00000417122:T18S;ENSP00000418832:T18S;ENSP00000417639:T143S	.	T	-	1	0	C3orf67	58874597	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.988000	0.63863	2.118000	0.64928	0.528000	0.53228	ACC		0.383	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		A	58899557	T	A	58899557	3	1	280	1	0	0	0	0	1	0	0	0	2243	1696	59	5	1683	5	C3orf67	3	58899557	Missense_Mutation	SNP	T	TCGA-B8-5163-01A-01D-1421-08	30531200	58899557	139122873	15	16781											
PIK3CB	5291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	138413736	138413736	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr3:138413736A>G	ENST00000477593.1	-	13	1857	c.1784T>C	c.(1783-1785)cTt>cCt	p.L595P	PIK3CB_ENST00000544716.1_Missense_Mutation_p.L41P|PIK3CB_ENST00000289153.2_Missense_Mutation_p.L595P			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	595	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.L595P(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CCAAATCTGAAGCAGCGCCTG	0.473																																																1	Substitution - Missense(1)	kidney(1)											44	51	49					3																	138413736		2203	4300	6503	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1784T>C	3.37:g.138413736A>G	ENSP00000418143:p.Leu595Pro		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.315788|4.315788	0.81469|0.81469	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568|ENST00000477593;ENST00000544716;ENST00000289153	.|T;T;T	.|0.79940	.|-1.32;-1.32;-1.32	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90469|0.90469	0.7015|0.7015	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.49783	.|0.581;0.886;0.928	.|P;P;P	.|0.51806	.|0.464;0.68;0.638	D|D	0.93094|0.93094	0.6502|0.6502	5|10	.|0.87932	.|D	.|0	-18.2527|-18.2527	16.3483|16.3483	0.83171|0.83171	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|595;182;41	.|P42338;B4DZI3;Q68DL0	.|PK3CB_HUMAN;.;.	L|P	227|595;41;595	.|ENSP00000418143:L595P;ENSP00000438259:L41P;ENSP00000289153:L595P	.|ENSP00000289153:L595P	F|L	-|-	1|2	0|0	PIK3CB|PIK3CB	139896426|139896426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	8.821000|8.821000	0.92009|0.92009	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.473	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			G	138413736	A	G	138413736	3	3	280	1	0	0	0	0	1	0	0	0	11916	72	3	3	1470	3	PIK3CB	3	138413736	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08	79514179	138413736	59608694	16	16782											
PCDH7	5099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	30725802	30725802	+	Missense_Mutation	SNP	G	G	C	rs375645975		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr4:30725802G>C	ENST00000361762.2	+	1	3766	c.2758G>C	c.(2758-2760)Gaa>Caa	p.E920Q	PCDH7_ENST00000543491.1_Missense_Mutation_p.E920Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	920					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E920Q(1)|p.E873Q(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAAGATCACGAAGACTTTTT	0.383																																																2	Substitution - Missense(2)	kidney(2)											81	84	83					4																	30725802		2203	4300	6503	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2758G>C	4.37:g.30725802G>C	ENSP00000355243:p.Glu920Gln		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.013267|3.013267	0.54468|0.54468	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.32988|.	1.43;1.43|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.67776|0.67776	0.2929|0.2929	L|L	0.44542|0.44542	1.39|1.39	0.54753|0.54753	D|D	0.99998|0.99998	D;D;D|.	0.76494|.	0.997;0.998;0.999|.	D;D;D|.	0.75484|.	0.937;0.968;0.986|.	T|T	0.63310|0.63310	-0.6666|-0.6666	9|5	0.48119|.	T|.	0.1|.	.|.	18.8391|18.8391	0.92174|0.92174	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	920;873;920|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	Q|P	920;920;873|609	ENSP00000355243:E920Q;ENSP00000441802:E920Q|.	ENSP00000330302:E873Q|.	E|R	+|+	1|2	0|0	PCDH7|PCDH7	30334900|30334900	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.994000|0.994000	0.84299|0.84299	7.445000|7.445000	0.80570|0.80570	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.383	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		C	30725802	G	C	30725802	3	2	280	1	0	0	0	0	1	0	0	0	11518	1059	37	4	2760	4	PCDH7	4	30725802	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08		30725802	160428474	17	16783											
UGT2B15	7366	broad.mit.edu;hgsc.bcm.edu	37	4	69519852	69519852	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr4:69519852G>T	ENST00000338206.5	-	5	1225	c.1216C>A	c.(1216-1218)Cac>Aac	p.H406N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	406					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.H406N(1)								Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GCTTTCATGTGAGCAATGTTA	0.468																																																1	Substitution - Missense(1)	kidney(1)											156	149	151					4																	69519852		2203	4293	6496	SO:0001583	missense	7366			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1216C>A	4.37:g.69519852G>T	ENSP00000341045:p.His406Asn		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	g	5.201	0.222676	0.09863	.	.	ENSG00000196620	ENST00000338206	T	0.61392	0.11	2.57	2.57	0.30868	.	0.000000	0.85682	U	0.000000	T	0.58764	0.2145	M	0.80028	2.48	0.23063	N	0.998352	B	0.20459	0.045	B	0.26202	0.067	T	0.59026	-0.7531	10	0.59425	D	0.04	.	10.831	0.46661	0.0:0.0:1.0:0.0	.	406	P54855	UDB15_HUMAN	N	406	ENSP00000341045:H406N	ENSP00000341045:H406N	H	-	1	0	UGT2B15	69202447	0.286000	0.24305	0.042000	0.18584	0.018000	0.09664	3.174000	0.50847	1.421000	0.47157	0.455000	0.32223	CAC		0.468	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		T	69519852	G	T	69519852	3	4	280	1	0	0	0	0	1	0	0	0	16963	1290	45	4	2001	4	UGT2B15	4	69519852	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	38794050	69519852	121634424	18	16784											
ZFP42	132625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	188924839	188924839	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr4:188924839A>G	ENST00000326866.4	+	4	1286	c.878A>G	c.(877-879)aAa>aGa	p.K293R	ZFP42_ENST00000509524.1_Missense_Mutation_p.K293R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	293					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K293R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATAACCTGAAAGCCCACATC	0.458																																																1	Substitution - Missense(1)	kidney(1)											62	61	61					4																	188924839		2203	4300	6503	SO:0001583	missense	132625			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.878A>G	4.37:g.188924839A>G	ENSP00000317686:p.Lys293Arg		D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657161	0.29425	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.35973	1.28;1.28	4.39	3.21	0.36854	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.112621	0.64402	D	0.000018	T	0.20780	0.0500	L	0.31120	0.905	0.31622	N	0.650149	P	0.45634	0.863	B	0.35039	0.194	T	0.20907	-1.0261	10	0.44086	T	0.13	.	8.3549	0.32324	0.9048:0.0:0.0952:0.0	.	293	Q96MM3	ZFP42_HUMAN	R	293	ENSP00000317686:K293R;ENSP00000424662:K293R	ENSP00000317686:K293R	K	+	2	0	ZFP42	189161833	1.000000	0.71417	0.722000	0.30670	0.065000	0.16274	8.889000	0.92470	1.020000	0.39573	0.533000	0.62120	AAA		0.458	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		G	188924839	A	G	188924839	3	3	280	1	0	0	0	0	1	0	0	0	17655	14	1	3	880	3	ZFP42	4	188924839	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08	119404987	188924839	2229437	19	16785											
FAM105B	90268	hgsc.bcm.edu;ucsc.edu	37	5	14673798	14673798	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:14673798delA	ENST00000284274.4	+	2	278	c.200delA	c.(199-201)gaafs	p.E67fs		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		67					canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AAGGAGAAAGAATTGCTTATA	0.348																																																0													182	175	177					5																	14673798		1859	4102	5961	SO:0001589	frameshift_variant	90268																														ENST00000284274.4:c.200delA	5.37:g.14673798delA	ENSP00000284274:p.Glu67fs		D3DTD3|Q8NAS0|Q96IA3	Frame_Shift_Del	DEL	ENST00000284274.4	37	CCDS43302.1																																																																																				0.348	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			-	14673798	A	-	14673798	7	5	280	1	0	1	0	1	0	0	0	0	5390	246	9	0	206	0	FAM105B	5	14673798	Frame_Shift_Del	DEL	A	TCGA-B8-5163-01A-01D-1421-08		14673798	166241462	20	16786											
GHR	2690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	42719044	42719044	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:42719044A>C	ENST00000230882.4	+	10	1625	c.1435A>C	c.(1435-1437)Agt>Cgt	p.S479R	GHR_ENST00000537449.1_Missense_Mutation_p.S292R|GHR_ENST00000357703.3_Missense_Mutation_p.S457R	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	479					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.S479R(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGCAATCCAAGTTCACTGTC	0.488																																																1	Substitution - Missense(1)	kidney(1)											71	66	67					5																	42719044		2203	4300	6503	SO:0001583	missense	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1435A>C	5.37:g.42719044A>C	ENSP00000230882:p.Ser479Arg		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017879	0.54576	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.35789	1.29;1.29;1.29	5.98	4.8	0.61643	.	0.601756	0.20469	N	0.091733	T	0.55497	0.1924	M	0.85099	2.735	0.24525	N	0.994142	P	0.41947	0.766	P	0.52267	0.694	T	0.51466	-0.8702	10	0.36615	T	0.2	0.0321	12.3254	0.55007	0.9334:0.0:0.0666:0.0	.	479	P10912	GHR_HUMAN	R	479;457;292	ENSP00000230882:S479R;ENSP00000350335:S457R;ENSP00000442206:S292R	ENSP00000230882:S479R	S	+	1	0	GHR	42754801	1.000000	0.71417	0.048000	0.18961	0.879000	0.50718	4.898000	0.63238	1.042000	0.40150	0.482000	0.46254	AGT		0.488	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		C	42719044	A	C	42719044	3	2	280	1	0	0	0	0	1	0	0	0	6373	72	3	5	1469	5	GHR	5	42719044	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08	28045246	42719044	138196216	21	16787											
CHD1	1105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	98204294	98204294	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:98204294A>C	ENST00000284049.3	-	30	4302	c.4153T>G	c.(4153-4155)Tca>Gca	p.S1385A	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1385					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.S1385A(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTGACACTGAAGATTTCTTG	0.398																																																1	Substitution - Missense(1)	kidney(1)											139	137	138					5																	98204294		2203	4300	6503	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4153T>G	5.37:g.98204294A>C	ENSP00000284049:p.Ser1385Ala		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	A	3.003	-0.205662	0.06180	.	.	ENSG00000153922	ENST00000284049	D	0.89746	-2.56	5.32	-4.34	0.03666	.	1.079210	0.07499	U	0.906980	T	0.75087	0.3802	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60306	-0.7289	10	0.10377	T	0.69	.	5.3644	0.16105	0.1539:0.5514:0.0855:0.2092	.	1385	O14646	CHD1_HUMAN	A	1385	ENSP00000284049:S1385A	ENSP00000284049:S1385A	S	-	1	0	CHD1	98232194	0.000000	0.05858	0.019000	0.16419	0.086000	0.17979	0.160000	0.16462	-0.210000	0.10140	-0.316000	0.08728	TCA		0.398	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		C	98204294	A	C	98204294	3	2	280	1	0	0	0	0	1	0	0	0	3325	246	9	5	1003	5	CHD1	5	98204294	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08	55485250	98204294	82710966	22	16788											
MEGF10	84466	hgsc.bcm.edu;ucsc.edu	37	5	126754854	126754854	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:126754854delA	ENST00000274473.6	+	12	1615	c.1348delA	c.(1348-1350)atafs	p.I450fs	MEGF10_ENST00000418761.2_Frame_Shift_Del_p.I450fs|MEGF10_ENST00000508365.1_Frame_Shift_Del_p.I450fs|MEGF10_ENST00000503335.2_Frame_Shift_Del_p.I450fs	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	450	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AACCTATGGGATAAACTGTTC	0.463																																																0													250	231	237					5																	126754854		2203	4300	6503	SO:0001589	frameshift_variant	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1348delA	5.37:g.126754854delA	ENSP00000274473:p.Ile450fs		Q68DE5|Q8WUL3	Frame_Shift_Del	DEL	ENST00000274473.6	37	CCDS4142.1																																																																																				0.463	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		-	126754854	A	-	126754854	7	5	280	1	0	1	0	1	0	0	0	0	9462	333	12	0	1386	0	MEGF10	5	126754854	Frame_Shift_Del	DEL	A	TCGA-B8-5163-01A-01D-1421-08	28550560	126754854	54160406	23	16789	131	2									
MEGF10	84466	hgsc.bcm.edu	37	5	126754856	126754856	+	Silent	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:126754856A>T	ENST00000274473.6	+	12	1617	c.1350A>T	c.(1348-1350)atA>atT	p.I450I	MEGF10_ENST00000418761.2_Silent_p.I450I|MEGF10_ENST00000508365.1_Silent_p.I450I|MEGF10_ENST00000503335.2_Silent_p.I450I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	450	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCTATGGGATAAACTGTTCCT	0.458																																																0													251	232	238					5																	126754856		2203	4300	6503	SO:0001819	synonymous_variant	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1350A>T	5.37:g.126754856A>T			Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	CCDS4142.1																																																																																				0.458	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		T	126754856	A	T	126754856	2	4	280	1	0	0	0	0	0	0	0	1	9462	352	13	5		5	MEGF10	5	126754856	Silent	SNP	A	TCGA-B8-5163-01A-01D-1421-08	2	126754856	54160404	24	16790	131	2									
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127642858	127642858	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:127642858G>T	ENST00000508053.1	-	48	6365	c.5391C>A	c.(5389-5391)ttC>ttA	p.F1797L	FBN2_ENST00000262464.4_Missense_Mutation_p.F1797L			P35556	FBN2_HUMAN	fibrillin 2	1797					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.F1797L(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTCAAAGGTGAATCCAGGAA	0.289																																																2	Substitution - Missense(2)	kidney(2)											92	98	96					5																	127642858		2203	4296	6499	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5391C>A	5.37:g.127642858G>T	ENSP00000424571:p.Phe1797Leu		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928300	0.52759	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92099	-2.97;-2.97	5.17	4.22	0.49857	Matrix fibril-associated (2);	0.100758	0.44483	D	0.000454	D	0.93815	0.8022	L	0.60845	1.875	0.40820	D	0.983497	P	0.52842	0.956	D	0.65010	0.931	D	0.93241	0.6626	10	0.52906	T	0.07	.	11.2504	0.49022	0.1402:0.0:0.8598:0.0	.	1797	P35556	FBN2_HUMAN	L	1797	ENSP00000262464:F1797L;ENSP00000424571:F1797L	ENSP00000262464:F1797L	F	-	3	2	FBN2	127670757	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.403000	0.44530	2.686000	0.91538	0.591000	0.81541	TTC		0.289	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127642858	G	T	127642858	3	4	280	1	0	0	0	0	1	0	0	0	5705	1281	45	4	3443	4	FBN2	5	127642858	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	888002	127642858	53272402	25	16791											
ITK	3702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156670646	156670646	+	Silent	SNP	C	C	A	rs142689933		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr5:156670646C>A	ENST00000422843.3	+	12	1226	c.1074C>A	c.(1072-1074)atC>atA	p.I358I	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	358					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.I358I(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AATGGGTGATCGACCCCTCAG	0.493			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - coding silent(1)	kidney(1)											112	115	114					5																	156670646		2203	4300	6503	SO:0001819	synonymous_variant	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1074C>A	5.37:g.156670646C>A			B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	CCDS4336.1																																																																																				0.493	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			A	156670646	C	A	156670646	2	1	280	1	0	0	0	0	0	0	0	1	7911	874	31	4		4	ITK	5	156670646	Silent	SNP	C	TCGA-B8-5163-01A-01D-1421-08	29027788	156670646	24244614	26	16792											
PGBD1	84547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28268767	28268767	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr6:28268767A>G	ENST00000405948.2	+	7	1556	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R	PGBD1_ENST00000259883.3_Missense_Mutation_p.K379R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	379						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K379R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GCTCAAAAGAAGTTAAAGGTA	0.438																																																1	Substitution - Missense(1)	kidney(1)											69	74	72					6																	28268767		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1136A>G	6.37:g.28268767A>G	ENSP00000385213:p.Lys379Arg		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	A	6.757	0.508580	0.12883	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01464	4.86;4.86	4.54	1.99	0.26369	.	0.397887	0.18706	N	0.133448	T	0.00328	0.0010	N	0.08118	0	0.24115	N	0.995821	B	0.12013	0.005	B	0.12156	0.007	T	0.41502	-0.9505	10	0.21014	T	0.42	-26.6413	6.1511	0.20313	0.782:0.0:0.218:0.0	.	379	Q96JS3	PGBD1_HUMAN	R	379	ENSP00000385213:K379R;ENSP00000259883:K379R	ENSP00000259883:K379R	K	+	2	0	PGBD1	28376746	0.740000	0.28207	0.280000	0.24747	0.923000	0.55619	0.558000	0.23469	0.307000	0.22880	0.533000	0.62120	AAG		0.438	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			G	28268767	A	G	28268767	3	3	280	1	0	0	0	0	1	0	0	0	11782	72	3	3	1158	3	PGBD1	6	28268767	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08		28268767	142846300	27	16793											
ZNF323	64288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28294515	28294515	+	Silent	SNP	T	T	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr6:28294515T>G	ENST00000414429.1	-	8	1552	c.649A>C	c.(649-651)Aga>Cga	p.R217R	ZSCAN31_ENST00000446474.1_Silent_p.R58R|ZSCAN31_ENST00000344279.6_Silent_p.R217R|ZSCAN31_ENST00000439158.1_Silent_p.R217R|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000396838.2_Silent_p.R217R			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	217					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R217R(1)									CAAGTTTCTCTGTACTTAGAA	0.428																																																1	Substitution - coding silent(1)	kidney(1)											115	111	113					6																	28294515		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.649A>C	6.37:g.28294515T>G			Q6P178|Q8WWS5	Silent	SNP	ENST00000414429.1	37	CCDS4649.1																																																																																				0.428	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		G	28294515	T	G	28294515	2	3	280	1	0	0	0	0	0	0	0	1	17848	1588	55	5		5	ZNF323	6	28294515	Silent	SNP	T	TCGA-B8-5163-01A-01D-1421-08	25748	28294515	142820552	28	16794											
GPSM3	63940	hgsc.bcm.edu	37	6	32159933	32159934	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr6:32159933_32159934insG	ENST00000375040.3	-	2	528_529	c.136_137insC	c.(136-138)cgcfs	p.R46fs	GPSM3_ENST00000375043.3_Frame_Shift_Ins_p.R46fs|GPSM3_ENST00000487761.1_Frame_Shift_Ins_p.R43fs|PBX2_ENST00000375050.4_5'Flank	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	46					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						ACCTGTGTGGCGGGTCCCTGGA	0.663																																																0																																										SO:0001589	frameshift_variant	63940			AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"activator of G-protein signaling 4"		"chromosome 6 open reading frame 9", "G-protein signalling modulator 3 (AGS3-like, C. elegans)"	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.137dupC	6.37:g.32159936_32159936dupG	ENSP00000364180:p.Arg46fs		A2BFJ3	Frame_Shift_Ins	INS	ENST00000375040.3	37	CCDS34419.1																																																																																				0.663	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107		G	32159934	-	G	32159933	7	5	280	1	0	1	1	0	0	0	0	0	6738	768	27	0	357	0	GPSM3	6	32159933	Frame_Shift_Ins	INS	-	TCGA-B8-5163-01A-01D-1421-08	3865418	32159933	138955134	29	16795											
CUL9	23113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43153719	43153719	+	Silent	SNP	G	G	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr6:43153719G>A	ENST00000252050.4	+	4	861	c.777G>A	c.(775-777)ttG>ttA	p.L259L	CUL9_ENST00000354495.3_Silent_p.L259L|CUL9_ENST00000372647.2_Silent_p.L259L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	259					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.L259L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTTTCTCCTTGGTGAAGCGCT	0.532																																																1	Substitution - coding silent(1)	kidney(1)											60	58	59					6																	43153719		2203	4300	6503	SO:0001819	synonymous_variant	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.777G>A	6.37:g.43153719G>A			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																				0.532	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		A	43153719	G	A	43153719	2	1	280	1	0	0	0	0	0	0	0	1	4063	1339	47	2		2	CUL9	6	43153719	Silent	SNP	G	TCGA-B8-5163-01A-01D-1421-08	10993786	43153719	127961348	30	16796											
EPHB6	2051	hgsc.bcm.edu	37	7	142562451	142562452	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr7:142562451_142562452insC	ENST00000392957.2	+	7	1680_1681	c.893_894insC	c.(892-897)ggctgcfs	p.C299fs	EPHB6_ENST00000411471.2_Frame_Shift_Ins_p.C22fs|EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.C299fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	299	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCTGTCGGGGGCTGCCGCTGCC	0.668																																																0																																										SO:0001589	frameshift_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.894dupC	7.37:g.142562452_142562452dupC	ENSP00000376684:p.Cys299fs		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Ins	INS	ENST00000392957.2	37	CCDS5873.2																																																																																				0.668	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			C	142562452	-	C	142562451	7	5	280	1	0	1	1	0	0	0	0	0	5180	1203	42	0	903	0	EPHB6	7	142562451	Frame_Shift_Ins	INS	-	TCGA-B8-5163-01A-01D-1421-08		142562451	16576212	31	16797											
EZH2	2146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148544374	148544374	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr7:148544374T>A	ENST00000460911.1	-	2	105	c.17A>T	c.(16-18)aAg>aTg	p.K6M	EZH2_ENST00000483967.1_Missense_Mutation_p.K6M|EZH2_ENST00000478654.1_Missense_Mutation_p.K6M|EZH2_ENST00000476773.1_Missense_Mutation_p.K6M|EZH2_ENST00000320356.2_Missense_Mutation_p.K6M|EZH2_ENST00000536783.1_De_novo_Start_OutOfFrame|EZH2_ENST00000541220.1_Missense_Mutation_p.K6M|EZH2_ENST00000350995.2_Missense_Mutation_p.K6M			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	6	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.K6M(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CTCAGATTTCTTCCCAGTCTG	0.423			Mis		DLBCL																																		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	2	Substitution - Missense(2)	kidney(2)											194	195	194					7																	148544374		2203	4300	6503	SO:0001583	missense	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.17A>T	7.37:g.148544374T>A	ENSP00000419711:p.Lys6Met		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354216	0.82243	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.94966	-3.49;-3.52;-3.52;-3.57;-3.49;-3.49;-3.51	5.94	5.94	0.96194	.	0.046684	0.85682	D	0.000000	D	0.92338	0.7569	N	0.02916	-0.46	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.964;0.99;0.998;0.994;0.998	D;P;P;P;P;D	0.65443	0.935;0.8;0.847;0.907;0.847;0.922	D	0.94917	0.8070	10	0.62326	D	0.03	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	6;6;6;6;6;6	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	M	6	ENSP00000417062:K6M;ENSP00000320147:K6M;ENSP00000419711:K6M;ENSP00000223193:K6M;ENSP00000443219:K6M;ENSP00000419050:K6M;ENSP00000419856:K6M	ENSP00000320147:K6M	K	-	2	0	EZH2	148175307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.280000	0.51677	2.275000	0.75901	0.528000	0.53228	AAG		0.423	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		A	148544374	T	A	148544374	3	1	280	1	0	0	0	0	1	0	0	0	5336	1609	56	5	2314	5	EZH2	7	148544374	Missense_Mutation	SNP	T	TCGA-B8-5163-01A-01D-1421-08	5981923	148544374	10594289	32	16798											
UBE2W	55284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	74742665	74742665	+	Missense_Mutation	SNP	G	G	T	rs17855421		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr8:74742665G>T	ENST00000602593.1	-	2	110	c.58C>A	c.(58-60)Cct>Act	p.P20T	RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.P20T|UBE2W_ENST00000602969.1_Missense_Mutation_p.P31T|UBE2W_ENST00000517608.1_Missense_Mutation_p.P49T|UBE2W_ENST00000419880.3_Missense_Mutation_p.P60T|UBE2W_ENST00000453587.2_Missense_Mutation_p.P20T			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	20					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.P31T(2)		kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			ATTCCAGGAGGTGGGTCATTT	0.343																																					Pancreas(14;490 592 20090 21022 23311)											2	Substitution - Missense(2)	kidney(2)											141	136	137					8																	74742665		1822	4079	5901	SO:0001583	missense	55284			AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"Ubiquitin-conjugating enzymes E2"	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.58C>A	8.37:g.74742665G>T	ENSP00000473561:p.Pro20Thr		B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Missense_Mutation	SNP	ENST00000602593.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.489003|3.489003	0.64074|0.64074	.|.	.|.	ENSG00000104343|ENSG00000104343	ENST00000523278|ENST00000453587;ENST00000517608;ENST00000419880	.|T;T	.|0.62364	.|1.13;0.03	5.76|5.76	4.89|4.89	0.63831|0.63831	.|Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71426|0.71426	0.3338|0.3338	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.42735	.|0.788;0.063;0.614	.|P;B;P	.|0.48840	.|0.49;0.241;0.592	T|T	0.75499|0.75499	-0.3296|-0.3296	5|10	.|0.62326	.|D	.|0.03	-0.0843|-0.0843	13.9114|13.9114	0.63869|0.63869	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.	.|20;31;20	.|Q96B02;Q96B02-2;C9JJH0	.|UBE2W_HUMAN;.;.	Q|T	15|20;20;31	.|ENSP00000403764:P20T;ENSP00000428813:P20T	.|ENSP00000397453:P31T	H|P	-|-	3|1	2|0	UBE2W|UBE2W	74905219|74905219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.524000|9.524000	0.98036|0.98036	1.566000|1.566000	0.49654|0.49654	0.655000|0.655000	0.94253|0.94253	CAC|CCT		0.343	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481		T	74742665	G	T	74742665	3	4	280	1	0	0	0	0	1	0	0	0	16882	1261	44	4	417	4	UBE2W	8	74742665	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08		74742665	71621357	33	16799											
KIFC2	90990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145697356	145697356	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr8:145697356C>G	ENST00000301332.2	+	13	1789	c.1412C>G	c.(1411-1413)tCc>tGc	p.S471C	KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Missense_Mutation_p.S219C|FOXH1_ENST00000525197.1_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	471	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S471C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCGGTGCTGTCCTGCCTCCGA	0.602																																																1	Substitution - Missense(1)	kidney(1)											76	75	75					8																	145697356		2203	4300	6503	SO:0001583	missense	90990			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1412C>G	8.37:g.145697356C>G	ENSP00000301332:p.Ser471Cys		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402045	0.83120	.	.	ENSG00000167702	ENST00000301332;ENST00000301331	T;T	0.50001	0.76;0.76	4.97	4.97	0.65823	Kinesin, motor domain (4);	0.000000	0.33916	N	0.004428	T	0.67683	0.2919	M	0.73430	2.235	0.50813	D	0.999892	D	0.59767	0.986	D	0.67382	0.951	T	0.71185	-0.4667	10	0.87932	D	0	-24.7398	16.0968	0.81132	0.0:1.0:0.0:0.0	.	471	Q96AC6	KIFC2_HUMAN	C	471;219	ENSP00000301332:S471C;ENSP00000301331:S219C	ENSP00000301331:S219C	S	+	2	0	KIFC2	145668164	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	7.290000	0.78711	2.735000	0.93741	0.591000	0.81541	TCC		0.602	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		G	145697356	C	G	145697356	3	3	280	1	0	0	0	0	1	0	0	0	8315	855	30	4	1462	4	KIFC2	8	145697356	Missense_Mutation	SNP	C	TCGA-B8-5163-01A-01D-1421-08	70954691	145697356	666666	34	16800											
DHTKD1	55526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12142206	12142206	+	Silent	SNP	C	C	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr10:12142206C>A	ENST00000263035.4	+	9	1763	c.1701C>A	c.(1699-1701)atC>atA	p.I567I		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	567					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.I567I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGGACGGAATCAAGCTAGACT	0.373																																																1	Substitution - coding silent(1)	kidney(1)											139	154	149					10																	12142206		2203	4300	6503	SO:0001819	synonymous_variant	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1701C>A	10.37:g.12142206C>A			Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	0.963	-0.702716	0.03255	.	.	ENSG00000181192	ENST00000448829	.	.	.	5.39	-5.76	0.02376	.	.	.	.	.	T	0.50205	0.1602	.	.	.	0.50171	D	0.999858	.	.	.	.	.	.	T	0.52419	-0.8578	4	.	.	.	-0.6513	8.4945	0.33119	0.3276:0.4146:0.2578:0.0	.	.	.	.	K	119	.	.	Q	+	1	0	DHTKD1	12182212	0.013000	0.17824	0.623000	0.29173	0.085000	0.17905	-0.525000	0.06214	-0.964000	0.03595	-0.516000	0.04426	CAA		0.373	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		A	12142206	C	A	12142206	2	1	280	1	0	0	0	0	0	0	0	1	4502	816	29	4		4	DHTKD1	10	12142206	Silent	SNP	C	TCGA-B8-5163-01A-01D-1421-08		12142206	123392541	35	16801											
FAM13C	220965	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61083812	61083812	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr10:61083812G>C	ENST00000373868.2	-	4	466	c.379C>G	c.(379-381)Cca>Gca	p.P127A	FAM13C_ENST00000277705.6_Missense_Mutation_p.P127A|FAM13C_ENST00000468840.2_Missense_Mutation_p.P44A|FAM13C_ENST00000435852.2_Missense_Mutation_p.P127A|FAM13C_ENST00000422313.2_Missense_Mutation_p.P127A|FAM13C_ENST00000442566.3_Missense_Mutation_p.P127A|FAM13C_ENST00000373867.3_Missense_Mutation_p.P44A|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000419214.2_Missense_Mutation_p.P127A	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	127								p.P127A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCATGAGCTGGTGTTCCTGCT	0.478																																																1	Substitution - Missense(1)	kidney(1)											399	345	363					10																	61083812		2203	4300	6503	SO:0001583	missense	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.379C>G	10.37:g.61083812G>C	ENSP00000362975:p.Pro127Ala		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513029	0.27123	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.51574	0.86;0.7;0.76;0.81;0.84;0.85	6.16	5.26	0.73747	.	0.302490	0.28284	N	0.015920	T	0.50394	0.1613	L	0.60455	1.87	0.09310	N	1	P;B;P;P;P	0.49559	0.837;0.231;0.837;0.925;0.668	B;B;B;P;B	0.47162	0.373;0.117;0.373;0.54;0.176	T	0.51996	-0.8634	10	0.72032	D	0.01	-1.7422	11.387	0.49791	0.0824:0.0:0.9176:0.0	.	127;44;127;127;127	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	A	44;127;127;127;127;44;127;127	ENSP00000362975:P127A;ENSP00000395661:P127A;ENSP00000277705:P127A;ENSP00000391993:P127A;ENSP00000392302:P127A;ENSP00000400241:P127A	ENSP00000277705:P127A	P	-	1	0	FAM13C	60753818	0.411000	0.25384	0.046000	0.18839	0.346000	0.29079	1.679000	0.37597	1.612000	0.50221	0.650000	0.86243	CCA		0.478	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			C	61083812	G	C	61083812	3	2	280	1	0	0	0	0	1	0	0	0	5456	1261	44	4	1422	4	FAM13C	10	61083812	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	48941606	61083812	74450935	36	16802											
TCN1	6947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	59622280	59622280	+	Silent	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:59622280A>G	ENST00000257264.3	-	7	1070	c.966T>C	c.(964-966)ccT>ccC	p.P322P	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	322	Flexible linker.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.P322P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACAGTTATAGGCTCATCAG	0.388																																																1	Substitution - coding silent(1)	kidney(1)											100	96	97					11																	59622280		2201	4295	6496	SO:0001819	synonymous_variant	6947			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.966T>C	11.37:g.59622280A>G			A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	CCDS7978.1																																																																																				0.388	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		G	59622280	A	G	59622280	2	3	280	1	0	0	0	0	0	0	0	1	15711	407	15	3		3	TCN1	11	59622280	Silent	SNP	A	TCGA-B8-5163-01A-01D-1421-08		59622280	75384236	37	16803											
GPR137	56834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64055547	64055547	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:64055547T>C	ENST00000313074.3	+	4	749	c.644T>C	c.(643-645)gTg>gCg	p.V215A	GPR137_ENST00000438980.2_Missense_Mutation_p.V215A|GPR137_ENST00000411458.1_Missense_Mutation_p.V273A|GPR137_ENST00000539851.1_Missense_Mutation_p.V215A|GPR137_ENST00000377702.4_Intron	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	215						integral component of membrane (GO:0016021)		p.V215A(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GGGACCAGTGTGTGCCAGGCG	0.647																																																2	Substitution - Missense(2)	kidney(2)											46	51	49					11																	64055547		2199	4297	6496	SO:0001583	missense	56834			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.644T>C	11.37:g.64055547T>C	ENSP00000321698:p.Val215Ala		B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.081680	0.76528	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000543383;ENST00000438980;ENST00000313074;ENST00000541952	T;T;T;T;T	0.52754	0.65;0.74;0.73;0.71;0.68	5.18	5.18	0.71444	.	0.073650	0.52532	D	0.000064	T	0.60011	0.2236	L	0.45352	1.415	0.48975	D	0.999737	D;D;D;P;D	0.76494	0.996;0.999;0.996;0.592;0.999	D;D;D;B;D	0.80764	0.978;0.994;0.978;0.175;0.994	T	0.62680	-0.6803	10	0.66056	D	0.02	-16.2352	12.9718	0.58517	0.0:0.0:0.0:1.0	.	215;273;221;215;215	B7Z7M1;B4DTG7;F5H234;Q96N19-2;Q96N19	.;.;.;.;G137A_HUMAN	A	221;273;215;215;215;215;215;152	ENSP00000411827:V273A;ENSP00000442792:V215A;ENSP00000441003:V215A;ENSP00000415698:V215A;ENSP00000321698:V215A	ENSP00000321698:V215A	V	+	2	0	GPR137	63812123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.530000	0.81962	1.960000	0.56953	0.459000	0.35465	GTG		0.647	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		C	64055547	T	C	64055547	3	2	280	1	0	0	0	0	1	0	0	0	6647	1696	59	3	840	3	GPR137	11	64055547	Missense_Mutation	SNP	T	TCGA-B8-5163-01A-01D-1421-08	4433267	64055547	70950969	38	16804											
GPHA2	170589	hgsc.bcm.edu	37	11	64702280	64702281	+	Frame_Shift_Ins	INS	-	-	G	rs374014484	byFrequency	TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:64702280_64702281insG	ENST00000279168.2	-	4	408_409	c.354_355insC	c.(352-357)gcctgcfs	p.C119fs	GPHA2_ENST00000533257.1_Frame_Shift_Ins_p.C119fs	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	119						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|prostate(1)	3						TCACACTGGCAGGCCCTGGCCG	0.629																																																0																																										SO:0001589	frameshift_variant	170589			AF260739	CCDS8086.1	11q13.1	2008-07-18				ENSG00000149735			18054	protein-coding gene	gene with protein product	"glycoprotein alpha 2", "cysteine knot protein"	609651				11809971	Standard	NM_130769		Approved	GPA2, ZSIG51, A2, MGC126572	uc001oca.3	Q96T91		ENST00000279168.2:c.355dupC	11.37:g.64702282_64702282dupG	ENSP00000279168:p.Cys119fs		Q52LE2	Frame_Shift_Ins	INS	ENST00000279168.2	37	CCDS8086.1																																																																																				0.629	GPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385470.1	NM_130769		G	64702281	-	G	64702280	7	5	280	1	0	1	1	0	0	0	0	0	6610	188	7	0	38	0	GPHA2	11	64702280	Frame_Shift_Ins	INS	-	TCGA-B8-5163-01A-01D-1421-08	646733	64702280	70304236	39	16805											
C11orf24	53838	broad.mit.edu;ucsc.edu	37	11	68031203	68031203	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:68031203G>T	ENST00000304271.6	-	3	435	c.33C>A	c.(31-33)ttC>ttA	p.F11L	C11orf24_ENST00000530166.1_Intron|C11orf24_ENST00000533310.1_Missense_Mutation_p.F11L	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	11						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F11L(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						AGGACAAGGAGAAAATCCAAA	0.577																																					NSCLC(21;855 905 4198 36694)											1	Substitution - Missense(1)	kidney(1)											70	63	65					11																	68031203		2200	4294	6494	SO:0001583	missense	53838			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.33C>A	11.37:g.68031203G>T	ENSP00000307264:p.Phe11Leu		Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962464	0.34659	.	.	ENSG00000171067	ENST00000304271;ENST00000533310;ENST00000527280	T	0.32023	1.47	4.68	-0.355	0.12587	.	0.859443	0.09497	U	0.794142	T	0.16128	0.0388	N	0.22421	0.69	0.09310	N	1	B;B	0.32365	0.367;0.367	B;B	0.28385	0.089;0.075	T	0.27468	-1.0073	10	0.13470	T	0.59	-1.6208	7.7814	0.29066	0.5423:0.0:0.4577:0.0	.	11;11	E9PRU5;Q96F05	.;CK024_HUMAN	L	11	ENSP00000307264:F11L	ENSP00000307264:F11L	F	-	3	2	C11orf24	67787779	0.319000	0.24607	0.001000	0.08648	0.557000	0.35523	0.158000	0.16422	0.032000	0.15435	-1.477000	0.00996	TTC		0.577	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		T	68031203	G	T	68031203	3	4	280	1	0	0	0	0	1	0	0	0	1637	933	33	4	1324	4	C11orf24	11	68031203	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	3328923	68031203	66975313	40	16806											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92531125	92531125	+	Missense_Mutation	SNP	C	C	T	rs375193261		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:92531125C>T	ENST00000298047.6	+	9	4963	c.4946C>T	c.(4945-4947)cCg>cTg	p.P1649L	FAT3_ENST00000525166.1_Missense_Mutation_p.P1499L|FAT3_ENST00000409404.2_Missense_Mutation_p.P1649L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1649	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1649L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGGGATCCCCGCCAATGTCT	0.468										TCGA Ovarian(4;0.039)																																						2	Substitution - Missense(2)	kidney(2)											98	97	97					11																	92531125		1990	4172	6162	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4946C>T	11.37:g.92531125C>T	ENSP00000298047:p.Pro1649Leu		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	18.87	3.716189	0.68844	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.57436	0.4;0.4;0.4	6.02	6.02	0.97574	.	.	.	.	.	T	0.79149	0.4397	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80977	-0.1141	9	0.66056	D	0.02	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1649	Q8TDW7-3	.	L	1649;1649;1499	ENSP00000298047:P1649L;ENSP00000387040:P1649L;ENSP00000432586:P1499L	ENSP00000298047:P1649L	P	+	2	0	FAT3	92170773	1.000000	0.71417	0.900000	0.35374	0.041000	0.13682	7.755000	0.85180	2.865000	0.98341	0.655000	0.94253	CCG		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92531125	C	T	92531125	3	4	280	1	0	0	0	0	1	0	0	0	5693	652	23	1	4980	1	FAT3	11	92531125	Missense_Mutation	SNP	C	TCGA-B8-5163-01A-01D-1421-08	24499922	92531125	42475391	41	16807											
DPAGT1	1798	hgsc.bcm.edu	37	11	118972218	118972219	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:118972218_118972219insG	ENST00000409993.2	-	3	1698_1699	c.147_148insC	c.(145-150)accagcfs	p.S50fs	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Frame_Shift_Ins_p.S50fs|DPAGT1_ENST00000432443.2_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	50					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGCTGTCGGCTGGTTTTGTTGA	0.649											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.148dupC	11.37:g.118972220_118972220dupG	ENSP00000386597:p.Ser50fs	1492	O15216|Q86WV9|Q9BWE6	Frame_Shift_Ins	INS	ENST00000409993.2	37	CCDS8411.1																																																																																				0.649	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		G	118972219	-	G	118972218	7	5	280	1	0	1	1	0	0	0	0	0	4712	1580	55	0	1114	0	DPAGT1	11	118972218	Frame_Shift_Ins	INS	-	TCGA-B8-5163-01A-01D-1421-08	26441093	118972218	16034298	42	16808											
GLB1L2	89944	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	134240284	134240284	+	Silent	SNP	C	C	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr11:134240284C>T	ENST00000535456.2	+	12	1394	c.1206C>T	c.(1204-1206)taC>taT	p.Y402Y	GLB1L2_ENST00000389881.3_Silent_p.Y402Y|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Silent_p.Y402Y	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	402					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.Y402Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCCTCAAGTACCTGGGGGAGG	0.637																																																1	Substitution - coding silent(1)	kidney(1)											147	121	130					11																	134240284		2201	4297	6498	SO:0001819	synonymous_variant	89944				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1206C>T	11.37:g.134240284C>T			A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	3.934	-0.015666	0.07681	.	.	ENSG00000149328	ENST00000525089	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	T	0.61211	0.2329	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57682	-0.7769	4	.	.	.	-13.5366	10.182	0.42975	0.0:0.9073:0.0:0.0927	.	.	.	.	S	341	.	.	P	+	1	0	GLB1L2	133745494	0.000000	0.05858	0.159000	0.22649	0.532000	0.34746	0.770000	0.26618	2.746000	0.94184	0.643000	0.83706	CCT		0.637	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		T	134240284	C	T	134240284	2	4	280	1	0	0	0	0	0	0	0	1	6431	518	18	2		2	GLB1L2	11	134240284	Silent	SNP	C	TCGA-B8-5163-01A-01D-1421-08	15268066	134240284	766232	43	16809											
CACNA1C	775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2566764	2566764	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr12:2566764A>T	ENST00000347598.4	+	5	649	c.649A>T	c.(649-651)Aaa>Taa	p.K217*	CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.K217*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.K217*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	217					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K217*(3)|p.K247*(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACAAGCAACCAAAGCAGATGG	0.567																																																4	Substitution - Nonsense(4)	kidney(4)											106	116	113					12																	2566764		1944	4139	6083	SO:0001587	stop_gained	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.649A>T	12.37:g.2566764A>T	ENSP00000266376:p.Lys217*		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Nonsense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	37	6.067404	0.97251	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	4.15	4.15	0.48705	.	0.266895	0.35772	N	0.002982	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3821	0.60773	1.0:0.0:0.0:0.0	.	.	.	.	X	217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;217;58	.	ENSP00000323129:K58X	K	+	1	0	CACNA1C	2437025	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.728000	0.68531	1.739000	0.51704	0.460000	0.39030	AAA		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2566764	A	T	2566764	4	4	280	1	0	0	0	0	0	1	0	0	2542	131	5	5	667	5	CACNA1C	12	2566764	Nonsense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08		2566764	131285131	44	16810											
STAT6	6778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57493192	57493192	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr12:57493192G>T	ENST00000300134.3	-	16	2101	c.1776C>A	c.(1774-1776)ttC>ttA	p.F592L	STAT6_ENST00000537215.2_Missense_Mutation_p.F482L|STAT6_ENST00000543873.2_Missense_Mutation_p.F592L|STAT6_ENST00000556155.1_Missense_Mutation_p.F592L|STAT6_ENST00000538913.2_Missense_Mutation_p.F482L|STAT6_ENST00000454075.3_Missense_Mutation_p.F592L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	592	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.F592L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTTGGCAGAGAATGGCTGGA	0.532																																																1	Substitution - Missense(1)	kidney(1)											88	91	90					12																	57493192		2203	4300	6503	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1776C>A	12.37:g.57493192G>T	ENSP00000300134:p.Phe592Leu		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168691	0.78339	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;D	0.96232	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-3.95	4.47	0.247	0.15521	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	M	0.63428	1.95	0.54753	D	0.999989	D;D	0.76494	0.986;0.999	P;D	0.83275	0.892;0.996	D	0.94601	0.7796	10	0.87932	D	0	-18.0987	7.6225	0.28193	0.424:0.0:0.576:0.0	.	592;592	A8K4S9;P42226	.;STAT6_HUMAN	L	592;482;482;592;592;482;592;482;20;592	ENSP00000300134:F592L;ENSP00000445409:F482L;ENSP00000438451:F592L;ENSP00000451742:F592L;ENSP00000444530:F482L;ENSP00000401486:F592L;ENSP00000450428:F20L	ENSP00000300134:F592L	F	-	3	2	STAT6	55779459	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	2.318000	0.43779	-0.051000	0.13334	-0.367000	0.07326	TTC		0.532	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		T	57493192	G	T	57493192	3	4	280	1	0	0	0	0	1	0	0	0	15275	933	33	4	795	4	STAT6	12	57493192	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	54926428	57493192	76358703	45	16811											
ANKS1B	56899	broad.mit.edu;hgsc.bcm.edu	37	12	100378000	100378000	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr12:100378000C>G	ENST00000547776.2	-	1	15	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	ANKS1B_ENST00000547010.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.E6Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	6						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.E6Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCCAGCAGCTCCTGGTCCTTC	0.647																																																1	Substitution - Missense(1)	kidney(1)											48	54	52					12																	100378000		1929	4122	6051	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.16G>C	12.37:g.100378000C>G	ENSP00000449629:p.Glu6Gln		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970672	0.74246	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.49720	0.79;0.79;0.77	4.71	4.71	0.59529	Ankyrin repeat-containing domain (2);	0.000000	0.46442	D	0.000299	T	0.44787	0.1310	N	0.03948	-0.315	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.52434	-0.8576	9	.	.	.	-7.0512	15.815	0.78592	0.0:1.0:0.0:0.0	.	6;6	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	Q	6	ENSP00000449629:E6Q;ENSP00000331381:E6Q;ENSP00000449894:E6Q	.	E	-	1	0	ANKS1B	98902131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.975000	0.76128	2.161000	0.67846	0.462000	0.41574	GAG		0.647	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		G	100378000	C	G	100378000	3	3	280	1	0	0	0	0	1	0	0	0	689	864	30	4	4122	4	ANKS1B	12	100378000	Missense_Mutation	SNP	C	TCGA-B8-5163-01A-01D-1421-08	42884808	100378000	33473895	46	16812											
PRDM4	11108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	108145591	108145591	+	Missense_Mutation	SNP	T	T	A	rs200896903		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr12:108145591T>A	ENST00000228437.5	-	5	1186	c.727A>T	c.(727-729)Aac>Tac	p.N243Y	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	243					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)	p.N243Y(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GCTGCAAGGTTGTTGCTCACA	0.542																																																1	Substitution - Missense(1)	kidney(1)											119	97	105					12																	108145591		2203	4300	6503	SO:0001583	missense	11108			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.727A>T	12.37:g.108145591T>A	ENSP00000228437:p.Asn243Tyr		Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952809	0.73787	.	.	ENSG00000110851	ENST00000228437	T	0.10860	2.83	6.07	6.07	0.98685	.	0.617332	0.19131	N	0.121939	T	0.09730	0.0239	N	0.14661	0.345	0.38631	D	0.951387	B	0.32693	0.38	B	0.34991	0.193	T	0.26643	-1.0097	10	0.72032	D	0.01	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	243	Q9UKN5	PRDM4_HUMAN	Y	243	ENSP00000228437:N243Y	ENSP00000228437:N243Y	N	-	1	0	PRDM4	106669721	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	5.045000	0.64220	2.326000	0.78906	0.533000	0.62120	AAC		0.542	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		A	108145591	T	A	108145591	3	1	280	1	0	0	0	0	1	0	0	0	12464	1812	63	5	1710	5	PRDM4	12	108145591	Missense_Mutation	SNP	T	TCGA-B8-5163-01A-01D-1421-08	7767591	108145591	25706304	47	16813											
NUDT15	55270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	48619890	48619890	+	Silent	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr13:48619890A>G	ENST00000258662.2	+	3	630	c.450A>G	c.(448-450)aaA>aaG	p.K150K		NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	150	Interaction with PCNA.				dGTP catabolic process (GO:0006203)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|metal ion binding (GO:0046872)	p.K150K(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		ATCCATTTAAAGAAGATCTGA	0.433																																																1	Substitution - coding silent(1)	kidney(1)											97	103	101					13																	48619890		2203	4300	6503	SO:0001819	synonymous_variant	55270				CCDS9407.1	13q14.12	2006-04-12			ENSG00000136159	ENSG00000136159		"Nudix motif containing"	23063	protein-coding gene	gene with protein product		615792				12767940	Standard	NM_018283		Approved	MTH2, FLJ10956	uc001vbw.1	Q9NV35	OTTHUMG00000016890	ENST00000258662.2:c.450A>G	13.37:g.48619890A>G			A2RUR6|Q32Q27|Q6P2C9	Silent	SNP	ENST00000258662.2	37	CCDS9407.1																																																																																				0.433	NUDT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044862.3	NM_018283		G	48619890	A	G	48619890	2	3	280	1	0	0	0	0	0	0	0	1	10733	69	3	3		3	NUDT15	13	48619890	Silent	SNP	A	TCGA-B8-5163-01A-01D-1421-08		48619890	66549988	48	16814											
DCT	1638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95114377	95114377	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr13:95114377A>C	ENST00000377028.5	-	5	1343	c.930T>G	c.(928-930)aaT>aaG	p.N310K	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.N310K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	310					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.N310K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TTCCCATTTGATTTCTTCTCA	0.383																																																2	Substitution - Missense(2)	kidney(2)											135	115	122					13																	95114377		2203	4300	6503	SO:0001583	missense	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.930T>G	13.37:g.95114377A>C	ENSP00000366227:p.Asn310Lys		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	a	14.94	2.683988	0.47991	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99051	-5.37;-5.37	5.52	1.52	0.23074	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.302779	0.37393	N	0.002103	D	0.97986	0.9337	M	0.73430	2.235	0.18873	N	0.999982	P;P	0.47762	0.9;0.515	P;B	0.47299	0.543;0.335	D	0.95028	0.8166	10	0.72032	D	0.01	-15.7498	6.8732	0.24133	0.3849:0.1593:0.4559:0.0	.	310;310	Q09GT4;P40126	.;TYRP2_HUMAN	K	310	ENSP00000366227:N310K;ENSP00000392762:N310K	ENSP00000366227:N310K	N	-	3	2	DCT	93912378	0.415000	0.25416	0.943000	0.38184	0.915000	0.54546	0.070000	0.14573	0.030000	0.15379	0.454000	0.30748	AAT		0.383	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			C	95114377	A	C	95114377	3	2	280	1	0	0	0	0	1	0	0	0	4306	330	12	5	752	5	DCT	13	95114377	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08	46494487	95114377	20055501	49	16815											
BRMS1L	84312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	36304068	36304068	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr14:36304068G>T	ENST00000216807.7	+	4	579	c.380G>T	c.(379-381)tGc>tTc	p.C127F	BRMS1L_ENST00000543183.1_Missense_Mutation_p.C79F	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	127					regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.C127F(1)|p.C127Y(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGAGAGCTCTGCTTAGAATCT	0.363																																																2	Substitution - Missense(2)	endometrium(1)|kidney(1)											109	115	113					14																	36304068		2203	4300	6503	SO:0001583	missense	84312			AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916			20512	protein-coding gene	gene with protein product			"breast cancer metastasis-suppressor 1"	BRMS1			Standard	XM_005268128		Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.380G>T	14.37:g.36304068G>T	ENSP00000216807:p.Cys127Phe		A6NFW5|A6NH45|B2RD65|Q9BRI4	Missense_Mutation	SNP	ENST00000216807.7	37	CCDS32066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.433482|4.433482	0.83776|0.83776	.|.	.|.	ENSG00000100916|ENSG00000100916	ENST00000551774|ENST00000216807;ENST00000543183	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79736|0.79736	0.4497|0.4497	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.83275	.|0.996	T|T	0.78768|0.78768	-0.2075|-0.2075	5|9	.|0.62326	.|D	.|0.03	-7.0101|-7.0101	20.6397|20.6397	0.99537|0.99537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|127	.|Q5PSV4	.|BRM1L_HUMAN	S|F	42|127;79	.|.	.|ENSP00000216807:C127F	A|C	+|+	1|2	0|0	BRMS1L|BRMS1L	35373819|35373819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.198000|9.198000	0.94994|0.94994	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GCT|TGC		0.363	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2	NM_032352		T	36304068	G	T	36304068	3	4	280	1	0	0	0	0	1	0	0	0	1519	1319	46	4	394	4	BRMS1L	14	36304068	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08		36304068	71045472	50	16816											
MTHFD1	4522	hgsc.bcm.edu	37	14	64891617	64891617	+	Missense_Mutation	SNP	G	G	A	rs556906968		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr14:64891617G>A	ENST00000545908.1	+	9	1220	c.991G>A	c.(991-993)Gta>Ata	p.V331I	MTHFD1_ENST00000216605.8_Missense_Mutation_p.V275I|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	275	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.V275I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	TCCTGGCGGCGTAGGGCCCAT	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15624	0.0		0.0	False		,,,				2504	0.0				Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											1	Substitution - Missense(1)	kidney(1)											102	82	89					14																	64891617		2203	4300	6503	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.991G>A	14.37:g.64891617G>A	ENSP00000438588:p.Val331Ile		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	G	25.5	4.645876	0.87958	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.89	5.89	0.94794	Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site (1);Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	M	0.83953	2.67	0.80722	D	1	D;D;D	0.67145	0.985;0.988;0.996	P;P;P	0.57244	0.717;0.617;0.816	D	0.83507	0.0078	10	0.87932	D	0	-25.0019	18.5149	0.90933	0.0:0.0:1.0:0.0	.	331;275;275	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	I	331;275;331;255	ENSP00000438588:V331I;ENSP00000450560:V275I;ENSP00000216605:V331I;ENSP00000451309:V255I	ENSP00000216605:V275I	V	+	1	0	MTHFD1	63961370	1.000000	0.71417	0.197000	0.23402	0.356000	0.29392	9.793000	0.99091	2.822000	0.97130	0.650000	0.86243	GTA		0.468	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			A	64891617	G	A	64891617	3	1	280	1	0	0	0	0	1	0	0	0	9929	1145	40	1	857	1	MTHFD1	14	64891617	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	28587549	64891617	42457923	51	16817											
PSEN1	5663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	73685985	73685985	+	Silent	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr14:73685985A>G	ENST00000324501.5	+	12	1664	c.1392A>G	c.(1390-1392)caA>caG	p.Q464Q	PSEN1_ENST00000394164.1_Silent_p.Q460Q|PSEN1_ENST00000406768.1_Silent_p.Q372Q|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000357710.4_Silent_p.Q460Q|PSEN1_ENST00000557511.1_Silent_p.Q406Q|PSEN1_ENST00000261970.3_Silent_p.Q406Q	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	464	Interaction with MTCH1.				activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.Q464Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CATTCCATCAATTTTATATCT	0.393																																																1	Substitution - coding silent(1)	kidney(1)											169	172	171					14																	73685985		2203	4300	6503	SO:0001819	synonymous_variant	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.1392A>G	14.37:g.73685985A>G			B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Silent	SNP	ENST00000324501.5	37	CCDS9812.1																																																																																				0.393	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			G	73685985	A	G	73685985	2	3	280	1	0	0	0	0	0	0	0	1	12655	98	4	3		3	PSEN1	14	73685985	Silent	SNP	A	TCGA-B8-5163-01A-01D-1421-08	8794368	73685985	33663555	52	16818											
ACOT6	641372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74086150	74086150	+	Silent	SNP	T	T	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr14:74086150T>C	ENST00000381139.1	+	2	562	c.231T>C	c.(229-231)acT>acC	p.T77T	RP3-414A15.10_ENST00000555011.1_RNA|RP3-414A15.10_ENST00000555500.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	77						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)	p.T77T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GATTTCTCACTTTTATGGACA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											103	95	98					14																	74086150		2203	4300	6503	SO:0001819	synonymous_variant	641372			DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"Acyl CoA thioesterases"	33159	protein-coding gene	gene with protein product		614267	"chromosome 14 open reading frame 42"	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.231T>C	14.37:g.74086150T>C				Silent	SNP	ENST00000381139.1	37	CCDS32118.1																																																																																				0.408	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414437.1	NM_001037162		C	74086150	T	C	74086150	2	2	280	1	0	0	0	0	0	0	0	1	154	1596	56	3		3	ACOT6	14	74086150	Silent	SNP	T	TCGA-B8-5163-01A-01D-1421-08	400165	74086150	33263390	53	16819											
ADAM10	102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	58925400	58925400	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr15:58925400A>G	ENST00000260408.3	-	9	1614	c.1171T>C	c.(1171-1173)Tcc>Ccc	p.S391P	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.S90P|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	391	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.S391P(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CTTACTGGGGATCCAAAGTTA	0.318																																																1	Substitution - Missense(1)	kidney(1)											74	72	73					15																	58925400		2192	4292	6484	SO:0001583	missense	102			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1171T>C	15.37:g.58925400A>G	ENSP00000260408:p.Ser391Pro		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702250	0.88924	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	D;D	0.86694	-2.16;-2.16	5.82	5.82	0.92795	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94369	0.7594	10	0.49607	T	0.09	-21.0726	16.1839	0.81934	1.0:0.0:0.0:0.0	.	90;391	B4DU28;O14672	.;ADA10_HUMAN	P	391;210;90	ENSP00000260408:S391P;ENSP00000379444:S90P	ENSP00000260408:S391P	S	-	1	0	ADAM10	56712692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.222000	0.72286	0.533000	0.62120	TCC		0.318	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		G	58925400	A	G	58925400	3	3	280	1	0	0	0	0	1	0	0	0	234	333	12	3	1107	3	ADAM10	15	58925400	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08		58925400	43605992	54	16820											
MYO1E	4643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59464119	59464119	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr15:59464119T>A	ENST00000288235.4	-	22	2856	c.2457A>T	c.(2455-2457)gaA>gaT	p.E819D	MIR2116_ENST00000517221.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	819	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.E819D(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ACAAGATCCGTTCTATCTCGA	0.532																																																1	Substitution - Missense(1)	kidney(1)											150	132	138					15																	59464119		2191	4291	6482	SO:0001583	missense	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.2457A>T	15.37:g.59464119T>A	ENSP00000288235:p.Glu819Asp		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	T	7.814	0.716334	0.15306	.	.	ENSG00000157483	ENST00000288235	T	0.36520	1.25	5.05	0.692	0.18050	Myosin tail 2 (1);	0.101584	0.64402	D	0.000003	T	0.22704	0.0548	L	0.45051	1.395	0.48135	D	0.999592	B	0.12013	0.005	B	0.15484	0.013	T	0.06661	-1.0814	10	0.14252	T	0.57	.	5.5277	0.16967	0.0:0.551:0.1412:0.3077	.	819	Q12965	MYO1E_HUMAN	D	819	ENSP00000288235:E819D	ENSP00000288235:E819D	E	-	3	2	MYO1E	57251411	0.457000	0.25752	0.915000	0.36163	0.027000	0.11550	-0.201000	0.09464	0.286000	0.22352	-0.337000	0.08149	GAA		0.532	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		A	59464119	T	A	59464119	3	1	280	1	0	0	0	0	1	0	0	0	10074	1722	60	5	897	5	MYO1E	15	59464119	Missense_Mutation	SNP	T	TCGA-B8-5163-01A-01D-1421-08	538719	59464119	43067273	55	16821											
ELMO3	79767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67236114	67236114	+	Silent	SNP	C	C	T	rs368149935		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr16:67236114C>T	ENST00000360833.1	+	12	1353	c.1296C>T	c.(1294-1296)caC>caT	p.H432H	ELMO3_ENST00000477898.1_Silent_p.H283H|ELMO3_ENST00000393997.2_Silent_p.H449H|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	396	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H449H(1)		cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGGACAAGCACGAGTGCCCCT	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16381	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						C		0,4394		0,0,2197	109	125	119		1347	-8.5	0.5	16		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ELMO3	NM_024712.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		449/774	67236114	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	79767				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"Engulfment and cell motility proteins"	17289	protein-coding gene	gene with protein product		606422	"engulfment and cell motility 3 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1296C>T	16.37:g.67236114C>T			B4DV86|Q9H8A5	Silent	SNP	ENST00000360833.1	37																																																																																					0.642	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		T	67236114	C	T	67236114	2	4	280	1	0	0	0	0	0	0	0	1	5069	535	19	1		1	ELMO3	16	67236114	Silent	SNP	C	TCGA-B8-5163-01A-01D-1421-08		67236114	23118639	56	16822											
KRBA2	124751	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8274814	8274814	+	Silent	SNP	T	T	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:8274814T>G	ENST00000331336.2	-	1	44	c.39A>C	c.(37-39)ccA>ccC	p.P13P	KRBA2_ENST00000396267.1_Intron|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	13					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.P13P(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCAGCAGGACTGGGGAAGAGA	0.468																																																1	Substitution - coding silent(1)	kidney(1)											61	65	64					17																	8274814		2203	4300	6503	SO:0001819	synonymous_variant	124751			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.39A>C	17.37:g.8274814T>G			Q8IYY0	Silent	SNP	ENST00000331336.2	37	CCDS11141.1																																																																																				0.468	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		G	8274814	T	G	8274814	2	3	280	1	0	0	0	0	0	0	0	1	8442	1567	55	5		5	KRBA2	17	8274814	Silent	SNP	T	TCGA-B8-5163-01A-01D-1421-08		8274814	72920396	57	16823											
TBC1D29	26083	broad.mit.edu;hgsc.bcm.edu	37	17	28887640	28887640	+	Silent	SNP	T	T	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:28887640T>C	ENST00000580161.1	+	4	2581	c.84T>C	c.(82-84)tcT>tcC	p.S28S	TBC1D29_ENST00000584297.1_Silent_p.S28S|TBC1D29_ENST00000579181.1_Silent_p.S28S|RP11-218M11.6_ENST00000582125.1_RNA			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	28	Rab-GAP TBC; truncated. {ECO:0000255|PROSITE-ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.S28S(1)		breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CACAGATCTCTCTCGGGCTCA	0.547																																																1	Substitution - coding silent(1)	kidney(1)											129	106	114					17																	28887640		2203	4300	6503	SO:0001819	synonymous_variant	26083			BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.84T>C	17.37:g.28887640T>C				Silent	SNP	ENST00000580161.1	37	CCDS32606.1																																																																																				0.547	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1	NM_015594		C	28887640	T	C	28887640	2	2	280	1	0	0	0	0	0	0	0	1	15623	1538	54	3		3	TBC1D29	17	28887640	Silent	SNP	T	TCGA-B8-5163-01A-01D-1421-08	20612826	28887640	52307570	58	16824											
ATAD5	79915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29220506	29220506	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:29220506T>A	ENST00000321990.4	+	21	5013	c.4635T>A	c.(4633-4635)aaT>aaA	p.N1545K		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1545					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.N1545K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAGTATGAATTGTCTTGCTA	0.353																																																1	Substitution - Missense(1)	kidney(1)											51	59	56					17																	29220506		2201	4299	6500	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4635T>A	17.37:g.29220506T>A	ENSP00000313171:p.Asn1545Lys		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.952386	0.00470	.	.	ENSG00000176208	ENST00000321990	T	0.05717	3.4	6.08	-5.9	0.02275	.	1.067310	0.07098	N	0.839895	T	0.01254	0.0041	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43196	-0.9406	10	0.02654	T	1	.	1.0534	0.01585	0.4487:0.1619:0.1393:0.2501	.	1545	Q96QE3	ATAD5_HUMAN	K	1545	ENSP00000313171:N1545K	ENSP00000313171:N1545K	N	+	3	2	ATAD5	26244632	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.101000	0.15251	-0.686000	0.05170	-1.616000	0.00795	AAT		0.353	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		A	29220506	T	A	29220506	3	1	280	1	0	0	0	0	1	0	0	0	1076	1490	52	5	4717	5	ATAD5	17	29220506	Missense_Mutation	SNP	T	TCGA-B8-5163-01A-01D-1421-08	332866	29220506	51974704	59	16825											
STARD3	10948	broad.mit.edu;hgsc.bcm.edu	37	17	37815807	37815807	+	Splice_Site	SNP	G	G	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:37815807G>A	ENST00000336308.5	+	9	1013		c.e9+1		STARD3_ENST00000580611.1_Splice_Site|STARD3_ENST00000544210.2_Splice_Site|STARD3_ENST00000394250.4_Splice_Site	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3						cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAAGAATAATGTAAGAAGCCC	0.532																																																1	Unknown(1)	kidney(1)											76	80	79					17																	37815807		2203	4300	6503	SO:0001630	splice_region_variant	10948				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.795+1G>A	17.37:g.37815807G>A			A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Splice_Site	SNP	ENST00000336308.5	37	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449418	0.84101	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7049	0.88306	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STARD3	35069333	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	9.388000	0.97237	2.259000	0.74868	0.655000	0.94253	.		0.532	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1		Intron	A	37815807	G	A	37815807	5	1	280	1	0	0	0	0	0	0	1	0	15262	1391	48	2	839	2	STARD3	17	37815807	Splice_Site	SNP	G	TCGA-B8-5163-01A-01D-1421-08	8595301	37815807	43379403	60	16826											
KRT28	162605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38953169	38953169	+	Splice_Site	SNP	G	G	T	rs371042085		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:38953169G>T	ENST00000306658.7	-	5	1042	c.977C>A	c.(976-978)aCg>aAg	p.T326K		NM_181535.3	NP_853513.2			keratin 28									p.T326K(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GTCACCTACCGTGGCCATCAG	0.572																																					Melanoma(19;789 869 15380 26882 39836)											1	Substitution - Missense(1)	kidney(1)											69	72	71					17																	38953169		2203	4300	6503	SO:0001630	splice_region_variant	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.978+1C>A	17.37:g.38953169G>T				Missense_Mutation	SNP	ENST00000306658.7	37	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101062	0.37048	.	.	ENSG00000173908	ENST00000306658	D	0.88586	-2.4	5.45	0.657	0.17850	Filament (1);	0.328129	0.26146	N	0.026078	T	0.80341	0.4605	N	0.21617	0.685	0.38450	D	0.946921	B	0.14805	0.011	B	0.19666	0.026	T	0.71461	-0.4586	10	0.72032	D	0.01	.	10.5488	0.45077	0.2726:0.0:0.7274:0.0	.	326	Q7Z3Y7	K1C28_HUMAN	K	326	ENSP00000305263:T326K	ENSP00000305263:T326K	T	-	2	0	KRT28	36206695	0.854000	0.29725	0.724000	0.30704	0.463000	0.32649	0.573000	0.23699	-0.051000	0.13334	0.591000	0.81541	ACG		0.572	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535	Missense_Mutation	T	38953169	G	T	38953169	5	4	280	1	0	0	0	0	0	0	1	0	8467	1159	40	4	433	4	KRT28	17	38953169	Splice_Site	SNP	G	TCGA-B8-5163-01A-01D-1421-08	1137362	38953169	42242041	61	16827											
KRTAP4-1	85285	broad.mit.edu;ucsc.edu	37	17	39340703	39340703	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:39340703G>C	ENST00000398472.1	-	1	891	c.404C>G	c.(403-405)aCt>aGt	p.T135S				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	135	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament (GO:0045095)		p.T131S(1)|p.T135S(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCGGCAGCAAGTTGCACGGCA	0.557																																																2	Substitution - Missense(2)	kidney(2)											98	106	103					17																	39340703		2163	4275	6438	SO:0001583	missense	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"Keratin associated proteins"	18907	protein-coding gene	gene with protein product			"keratin associated protein 4-10"	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.404C>G	17.37:g.39340703G>C	ENSP00000381489:p.Thr135Ser		A8MWS7|Q3SYF2	Missense_Mutation	SNP	ENST00000398472.1	37		.	.	.	.	.	.	.	.	.	.	.	4.924	0.171744	0.09391	.	.	ENSG00000244537;ENSG00000198443;ENSG00000198443	ENST00000458321;ENST00000398472;ENST00000334190	T	0.01192	5.2	5.21	1.8	0.24995	.	.	.	.	.	T	0.00608	0.0020	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.18871	0.023	T	0.45026	-0.9289	8	0.02654	T	1	.	7.6009	0.28075	0.0:0.2984:0.3953:0.3063	.	135	Q9BYQ7	KRA41_HUMAN	S	131;135;116	ENSP00000381489:T135S	ENSP00000335483:T116S	T	-	2	0	KRTAP4-2;KRTAP4-1	36594229	0.161000	0.22892	0.000000	0.03702	0.001000	0.01503	2.013000	0.40942	0.525000	0.28522	-0.182000	0.12963	ACT		0.557	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		C	39340703	G	C	39340703	3	2	280	1	0	0	0	0	1	0	0	0	8550	1029	36	4	40	4	KRTAP4-1	17	39340703	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	387534	39340703	41854507	62	16828											
DNAH17	8632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76475699	76475699	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr17:76475699A>T	ENST00000585328.1	-	50	7877	c.7753T>A	c.(7753-7755)Ttt>Att	p.F2585I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.F2576I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2576	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F2585I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCACAGCAAACACGCAGAAA	0.622																																																1	Substitution - Missense(1)	kidney(1)											111	115	114					17																	76475699		2049	4200	6249	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7753T>A	17.37:g.76475699A>T	ENSP00000465516:p.Phe2585Ile		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	A	27.7	4.858636	0.91433	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.48522	0.81	4.5	4.5	0.54988	.	.	.	.	.	T	0.56963	0.2021	L	0.60067	1.865	0.41506	D	0.98831	.	.	.	.	.	.	T	0.59542	-0.7435	7	0.49607	T	0.09	.	13.0822	0.59119	1.0:0.0:0.0:0.0	.	.	.	.	I	2585;2576	ENSP00000374490:F2576I	ENSP00000300671:F2585I	F	-	1	0	DNAH17	73987294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.773000	0.68898	1.924000	0.55735	0.519000	0.50382	TTT		0.622	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76475699	A	T	76475699	3	4	280	1	0	0	0	0	1	0	0	0	4603	43	2	5	5748	5	DNAH17	17	76475699	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08	37134996	76475699	4719511	63	16829											
C18orf22	79863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	77797401	77797401	+	Silent	SNP	G	G	A	rs142434986		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr18:77797401G>A	ENST00000306735.5	+	3	411	c.273G>A	c.(271-273)gcG>gcA	p.A91A	RP11-795F19.5_ENST00000564012.1_3'UTR|RBFA_ENST00000262197.7_Silent_p.A91A|RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	91					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)		p.A91A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AAGACCATGCGCGCCTGAGGG	0.527																																																1	Substitution - coding silent(1)	kidney(1)						G	,	1,4405	2.1+/-5.4	0,1,2202	108	109	109		273,273	-7.4	0	18	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RBFA	NM_001171967.1,NM_024805.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	91/243,91/344	77797401	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79863			BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.273G>A	18.37:g.77797401G>A			Q6PF07|Q8WZ65|Q9H776	Silent	SNP	ENST00000306735.5	37	CCDS12021.1																																																																																				0.527	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		A	77797401	G	A	77797401	2	1	280	1	0	0	0	0	0	0	0	1	1900	1074	38	1		1	C18orf22	18	77797401	Silent	SNP	G	TCGA-B8-5163-01A-01D-1421-08		77797401	279847	64	16830											
CIB3	117286	broad.mit.edu	37	19	16279070	16279070	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr19:16279070G>T	ENST00000269878.4	-	4	273	c.224C>A	c.(223-225)gCc>gAc	p.A75D	CIB3_ENST00000379859.3_Missense_Mutation_p.A26D|CIB3_ENST00000541493.1_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	75	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.A75D(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GAATACCTGGGCAATCCTCTG	0.562																																																1	Substitution - Missense(1)	kidney(1)											60	53	55					19																	16279070		2203	4300	6503	SO:0001583	missense	117286			AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"EF-hand domain containing"	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.224C>A	19.37:g.16279070G>T	ENSP00000269878:p.Ala75Asp		E7EUX1|Q2M1W0|Q6ISP1	Missense_Mutation	SNP	ENST00000269878.4	37	CCDS12340.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330782	0.24167	.	.	ENSG00000141977	ENST00000269878;ENST00000379859	T;T	0.67523	-0.27;2.95	4.84	2.71	0.32032	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	L	0.40543	1.245	0.80722	D	1	B;B	0.26744	0.158;0.158	B;B	0.27262	0.078;0.048	T	0.54248	-0.8322	10	0.72032	D	0.01	-21.2938	9.9668	0.41730	0.1643:0.0:0.8357:0.0	.	26;75	E7EUX1;Q96Q77	.;CIB3_HUMAN	D	75;26	ENSP00000269878:A75D;ENSP00000369188:A26D	ENSP00000269878:A75D	A	-	2	0	CIB3	16140070	1.000000	0.71417	0.897000	0.35233	0.093000	0.18481	2.805000	0.47939	0.481000	0.27557	0.448000	0.29417	GCC		0.562	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		T	16279070	G	T	16279070	3	4	280	1	0	0	0	0	1	0	0	0	3424	1203	42	4	351	4	CIB3	19	16279070	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08		16279070	42849913	65	16831											
CEACAM5	1048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42219626	42219626	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr19:42219626A>T	ENST00000221992.6	+	4	875	c.761A>T	c.(760-762)aAt>aTt	p.N254I	CEACAM5_ENST00000398599.4_Missense_Mutation_p.N254I|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.N254I	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	254	Ig-like 3.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.N254I(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCAGGGGAAAATCTGAACCTC	0.507																																																1	Substitution - Missense(1)	kidney(1)											91	88	89					19																	42219626		2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.761A>T	19.37:g.42219626A>T	ENSP00000221992:p.Asn254Ile		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.45|10.45	1.353483|1.353483	0.24512|0.24512	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816	.|T;T	.|0.14391	.|2.51;2.51	3.19|3.19	2.04|2.04	0.26737|0.26737	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.43322|0.43322	0.1242|0.1242	M|M	0.94142|0.94142	3.5|3.5	0.09310|0.09310	N|N	1|1	.|D;D	.|0.65815	.|0.987;0.995	.|P;D	.|0.79108	.|0.901;0.992	T|T	0.16247|0.16247	-1.0409|-1.0409	5|9	.|0.66056	.|D	.|0.02	.|.	6.5795|6.5795	0.22585|0.22585	0.758:0.242:0.0:0.0|0.758:0.242:0.0:0.0	.|.	.|254;254	.|P06731;Q53G30	.|CEAM5_HUMAN;.	N|I	250|254	.|ENSP00000221992:N254I;ENSP00000385072:N254I	.|ENSP00000221992:N254I	K|N	+|+	3|2	2|0	CEACAM5|CEACAM5	46911466|46911466	0.000000|0.000000	0.05858|0.05858	0.162000|0.162000	0.22713|0.22713	0.316000|0.316000	0.28119|0.28119	-0.347000|-0.347000	0.07750|0.07750	1.239000|1.239000	0.43787|0.43787	0.260000|0.260000	0.18958|0.18958	AAA|AAT		0.507	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		T	42219626	A	T	42219626	3	4	280	1	0	0	0	0	1	0	0	0	3197	101	4	5	775	5	CEACAM5	19	42219626	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08	25940556	42219626	16909357	66	16832											
IRF2BP1	26145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46388204	46388204	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr19:46388204C>A	ENST00000302165.3	-	1	1172	c.829G>T	c.(829-831)Gaa>Taa	p.E277*		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)	p.E277*(1)		cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CAGGGGTATTCGGTGAAGAGC	0.617																																																1	Substitution - Nonsense(1)	kidney(1)											56	57	56					19																	46388204		2203	4300	6503	SO:0001587	stop_gained	26145			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.829G>T	19.37:g.46388204C>A	ENSP00000307265:p.Glu277*		Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Nonsense_Mutation	SNP	ENST00000302165.3	37	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	C	40	7.967469	0.98585	.	.	ENSG00000170604	ENST00000302165	.	.	.	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0928	0.72207	0.0:1.0:0.0:0.0	.	.	.	.	X	277	.	ENSP00000307265:E277X	E	-	1	0	IRF2BP1	51080044	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.198000	0.77823	2.406000	0.81754	0.555000	0.69702	GAA		0.617	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		A	46388204	C	A	46388204	4	1	280	1	0	0	0	0	0	1	0	0	7831	893	31	4	929	4	IRF2BP1	19	46388204	Nonsense_Mutation	SNP	C	TCGA-B8-5163-01A-01D-1421-08	4168578	46388204	12740779	67	16833											
ZNF418	147686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58439174	58439174	+	Silent	SNP	A	A	T			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr19:58439174A>T	ENST00000396147.1	-	4	666	c.375T>A	c.(373-375)cgT>cgA	p.R125R	ZNF418_ENST00000599852.1_Silent_p.R40R|ZNF418_ENST00000425570.3_Silent_p.R146R|ZNF418_ENST00000595830.1_Silent_p.R125R|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R125R(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTGGTGCGGACGGTTTGAAC	0.458																																																1	Substitution - coding silent(1)	kidney(1)											168	174	172					19																	58439174		2203	4300	6503	SO:0001819	synonymous_variant	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.375T>A	19.37:g.58439174A>T			Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	CCDS42642.1																																																																																				0.458	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		T	58439174	A	T	58439174	2	4	280	1	0	0	0	0	0	0	0	1	17900	262	10	5		5	ZNF418	19	58439174	Silent	SNP	A	TCGA-B8-5163-01A-01D-1421-08	12050970	58439174	689809	68	16834											
NCOA6	23054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33337368	33337368	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr20:33337368T>A	ENST00000374796.2	-	10	5200	c.2630A>T	c.(2629-2631)aAt>aTt	p.N877I	NCOA6_ENST00000359003.2_Missense_Mutation_p.N877I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	877	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.N877I(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GACATCCTTATTGACTGGGAA	0.448																																																1	Substitution - Missense(1)	kidney(1)											110	101	104					20																	33337368		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2630A>T	20.37:g.33337368T>A	ENSP00000363929:p.Asn877Ile		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289215	0.59976	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.31247	1.5;1.5	5.99	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	L	0.29908	0.895	0.45354	D	0.99834	P	0.46706	0.883	P	0.44732	0.459	T	0.02087	-1.1216	10	0.87932	D	0	-8.4029	9.2466	0.37529	0.0:0.0639:0.1236:0.8125	.	877	Q14686	NCOA6_HUMAN	I	877	ENSP00000363929:N877I;ENSP00000351894:N877I	ENSP00000351894:N877I	N	-	2	0	NCOA6	32801029	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.140000	0.58031	0.483000	0.27608	-0.274000	0.10170	AAT		0.448	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		A	33337368	T	A	33337368	3	1	280	1	0	0	0	0	1	0	0	0	10235	1493	52	5	3589	5	NCOA6	20	33337368	Missense_Mutation	SNP	T	TCGA-B8-5163-01A-01D-1421-08		33337368	29688152	69	16835			1	28		2	2	41	T		9.432074e-05
NCOA6	23054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33337408	33337408	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr20:33337408T>A	ENST00000374796.2	-	10	5160	c.2590A>T	c.(2590-2592)Aat>Tat	p.N864Y	NCOA6_ENST00000359003.2_Missense_Mutation_p.N864Y			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	864	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.N864Y(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GACATCTGATTTCCATTGGGA	0.502																																																1	Substitution - Missense(1)	kidney(1)											113	107	109					20																	33337408		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2590A>T	20.37:g.33337408T>A	ENSP00000363929:p.Asn864Tyr		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237206	0.39498	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.25085	1.82;1.82	5.98	5.98	0.97165	.	0.139211	0.49305	D	0.000141	T	0.20210	0.0486	N	0.24115	0.695	0.30174	N	0.801032	P	0.42123	0.771	B	0.39617	0.305	T	0.05750	-1.0866	10	0.30854	T	0.27	-2.6415	16.4781	0.84144	0.0:0.0:0.0:1.0	.	864	Q14686	NCOA6_HUMAN	Y	864	ENSP00000363929:N864Y;ENSP00000351894:N864Y	ENSP00000351894:N864Y	N	-	1	0	NCOA6	32801069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.368000	0.44222	2.288000	0.76882	0.528000	0.53228	AAT		0.502	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		A	33337408	T	A	33337408	3	1	280	1	0	0	0	0	1	0	0	0	10235	1841	64	5	3629	5	NCOA6	20	33337408	Missense_Mutation	SNP	T	TCGA-B8-5163-01A-01D-1421-08	40	33337408	29688112	70	16836			1	28		2	2	41	T		9.432074e-05
SRMS	6725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62174694	62174694	+	Missense_Mutation	SNP	G	G	T	rs374588298		TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chr20:62174694G>T	ENST00000217188.1	-	3	658	c.618C>A	c.(616-618)aaC>aaA	p.N206K		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	206	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.N206K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCAGCAGGGGGTTCTGGATCA	0.652																																																1	Substitution - Missense(1)	kidney(1)											73	69	70					20																	62174694		2201	4300	6501	SO:0001583	missense	6725				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.618C>A	20.37:g.62174694G>T	ENSP00000217188:p.Asn206Lys			Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	2.728	-0.265134	0.05754	.	.	ENSG00000125508	ENST00000217188	T	0.25085	1.82	4.57	-2.79	0.05841	SH2 motif (2);	0.870080	0.09929	N	0.737449	T	0.17577	0.0422	L	0.50333	1.59	0.19300	N	0.999976	B	0.26318	0.146	B	0.23275	0.045	T	0.29336	-1.0015	10	0.29301	T	0.29	.	4.2045	0.10481	0.3709:0.0:0.3864:0.2427	.	206	Q9H3Y6	SRMS_HUMAN	K	206	ENSP00000217188:N206K	ENSP00000217188:N206K	N	-	3	2	SRMS	61645138	0.974000	0.33945	0.001000	0.08648	0.006000	0.05464	0.639000	0.24690	-0.114000	0.11936	-0.140000	0.14226	AAC		0.652	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		T	62174694	G	T	62174694	3	4	280	1	0	0	0	0	1	0	0	0	15157	1252	44	4	872	4	SRMS	20	62174694	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	28837286	62174694	850826	71	16837											
XG	7499	hgsc.bcm.edu;ucsc.edu	37	X	2688594	2688594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chrX:2688594delA	ENST00000381174.5	+	2	290	c.65delA	c.(64-66)caafs	p.Q22fs	XG_ENST00000419513.2_Frame_Shift_Del_p.Q22fs|XG_ENST00000426774.1_Frame_Shift_Del_p.Q22fs			P55808	XG_HUMAN	Xg blood group	22						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCAATAGGTCAAAGAGACTTT	0.517																																																0													282	247	259					X																	2688594		2203	4296	6499	SO:0001589	frameshift_variant	7499			AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"Blood group antigens", "Pseudoautosomal regions / PAR1"	12806	protein-coding gene	gene with protein product		300879	"Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.65delA	X.37:g.2688594delA	ENSP00000370566:p.Gln22fs		E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Frame_Shift_Del	DEL	ENST00000381174.5	37	CCDS14120.1																																																																																				0.517	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569		-	2688594	A	-	2688594	7	5	280	1	0	1	0	1	0	0	0	0	17432	130	5	0	71	0	XG	23	2688594	Frame_Shift_Del	DEL	A	TCGA-B8-5163-01A-01D-1421-08		2688594	152581966	72	16838											
KIF4A	24137	broad.mit.edu;hgsc.bcm.edu	37	X	69595153	69595153	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chrX:69595153G>C	ENST00000374403.3	+	17	1960	c.1878G>C	c.(1876-1878)aaG>aaC	p.K626N	KIF4A_ENST00000374388.3_Missense_Mutation_p.K626N	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	626					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K626N(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TGAAACTAAAGGAATCCACAG	0.453																																																1	Substitution - Missense(1)	kidney(1)											104	91	95					X																	69595153		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1878G>C	X.37:g.69595153G>C	ENSP00000363524:p.Lys626Asn		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390641	0.62066	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.17370	2.28;2.28	5.29	-0.449	0.12226	.	0.000000	0.64402	D	0.000011	T	0.32041	0.0816	M	0.69823	2.125	0.51233	D	0.999917	D;P	0.65815	0.995;0.936	P;P	0.61132	0.884;0.773	T	0.08289	-1.0729	10	0.87932	D	0	.	10.6422	0.45600	0.669:0.0:0.331:0.0	.	626;626	O95239;O95239-2	KIF4A_HUMAN;.	N	626	ENSP00000363509:K626N;ENSP00000363524:K626N	ENSP00000363509:K626N	K	+	3	2	KIF4A	69511878	0.998000	0.40836	0.997000	0.53966	0.993000	0.82548	0.603000	0.24149	-0.098000	0.12285	0.600000	0.82982	AAG		0.453	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		C	69595153	G	C	69595153	3	2	280	1	0	0	0	0	1	0	0	0	8305	991	35	4	1940	4	KIF4A	23	69595153	Missense_Mutation	SNP	G	TCGA-B8-5163-01A-01D-1421-08	66906559	69595153	85675407	73	16839											
SRPK3	26576	hgsc.bcm.edu	37	X	153047253	153047253	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5163-01A-01D-1421-08	TCGA-B8-5163-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	903132ef-877f-4207-ba28-2e9dd765c824	9e3d0ca6-9520-4e25-8db3-cf51008a0314	g.chrX:153047253A>G	ENST00000370101.3	+	4	401	c.355A>G	c.(355-357)Aca>Gca	p.T119A	SRPK3_ENST00000489426.1_Missense_Mutation_p.T186A|SRPK3_ENST00000370104.1_Missense_Mutation_p.T119A|SRPK3_ENST00000393786.3_Missense_Mutation_p.T119A|SRPK3_ENST00000370100.1_Missense_Mutation_p.T77A|SRPK3_ENST00000370108.3_Missense_Mutation_p.T119A	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTACACGGAGACAGCTGTGGA	0.612																																					Esophageal Squamous(167;766 3400 32156)											0													124	96	105					X																	153047253		2201	4300	6501	SO:0001583	missense	26576			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.355A>G	X.37:g.153047253A>G	ENSP00000359119:p.Thr119Ala		Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	ENST00000370101.3	37	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734476	0.69189	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000029	T	0.24084	0.0583	N	0.04746	-0.17	0.58432	D	0.999998	B;B;P;P;B	0.49635	0.017;0.09;0.712;0.926;0.01	B;B;P;D;B	0.65773	0.077;0.047;0.684;0.938;0.094	T	0.30268	-0.9984	10	0.27082	T	0.32	-12.5184	14.255	0.66045	1.0:0.0:0.0:0.0	.	77;119;119;119;186	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.;.;.;SRPK3_HUMAN;.	A	186;119;119;119;119;77	ENSP00000420058:T186A;ENSP00000377376:T119A;ENSP00000359122:T119A;ENSP00000359126:T119A;ENSP00000359119:T119A;ENSP00000359118:T77A	ENSP00000359118:T77A	T	+	1	0	SRPK3	152700447	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.502000	0.53332	2.013000	0.59113	0.430000	0.28490	ACA		0.612	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		G	153047253	A	G	153047253	3	3	280	1	0	0	0	0	1	0	0	0	15166	275	10	3	369	3	SRPK3	23	153047253	Missense_Mutation	SNP	A	TCGA-B8-5163-01A-01D-1421-08	83452100	153047253	2223307	74	16840											
RPA2	6118	broad.mit.edu	37	1	28240591	28240591	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:28240591G>T	ENST00000373912.3	-	2	399	c.100C>A	c.(100-102)Caa>Aaa	p.Q34K	RPA2_ENST00000313433.7_Missense_Mutation_p.Q122K|RPA2_ENST00000373909.3_Missense_Mutation_p.Q42K	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	34					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)	p.Q122K(1)|p.Q34K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTCGGCTTGAGAAGGTGCG	0.493								Direct reversal of damage;Nucleotide excision repair (NER)																																								2	Substitution - Missense(2)	kidney(2)											63	72	69					1																	28240591		2203	4300	6503	SO:0001583	missense	6118			BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"replication protein A2 (32kD)"			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.100C>A	1.37:g.28240591G>T	ENSP00000363021:p.Gln34Lys		Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	CCDS314.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880178	0.33162	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.22336	2.21;2.21;2.18;1.96	4.59	4.59	0.56863	.	0.054015	0.85682	D	0.000000	T	0.13543	0.0328	N	0.20401	0.57	0.51767	D	0.99993	B;B	0.30709	0.226;0.291	B;B	0.28465	0.057;0.09	T	0.08046	-1.0741	10	0.10636	T	0.68	-10.2065	16.5256	0.84330	0.0:0.0:1.0:0.0	.	34;42	P15927;P15927-2	RFA2_HUMAN;.	K	34;42;122;38	ENSP00000363021:Q34K;ENSP00000363017:Q42K;ENSP00000363015:Q122K;ENSP00000387649:Q38K	ENSP00000363015:Q122K	Q	-	1	0	RPA2	28113178	1.000000	0.71417	0.643000	0.29450	0.158000	0.22134	5.903000	0.69877	2.261000	0.74972	0.555000	0.69702	CAA		0.493	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		T	28240591	G	T	28240591	3	4	281	1	0	0	0	0	1	0	0	0	13543	1299	45	4	744	4	RPA2	1	28240591	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08		28240591	221010030	1	16841											
CSF3R	1441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36932909	36932909	+	Silent	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:36932909C>T	ENST00000373106.1	-	16	2509	c.1962G>A	c.(1960-1962)agG>agA	p.R654R	CSF3R_ENST00000440588.2_Silent_p.R654R|CSF3R_ENST00000373103.1_Silent_p.R654R|CSF3R_ENST00000418048.2_Silent_p.R654R|CSF3R_ENST00000331941.5_Silent_p.R654R|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Silent_p.R654R|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000338937.5_Missense_Mutation_p.G623E|CSF3R_ENST00000373104.1_Silent_p.R654R	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	654					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R654R(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGGATTCTTCCTGCTGGAGA	0.602																																																2	Substitution - coding silent(2)	kidney(2)											94	103	100					1																	36932909		2203	4300	6503	SO:0001819	synonymous_variant	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1962G>A	1.37:g.36932909C>T				Silent	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035769	0.54896	.	.	ENSG00000119535	ENST00000464465;ENST00000338937	T	0.29655	1.56	5.41	1.23	0.21249	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.27191	N	0.960429	B	0.17667	0.023	B	0.14578	0.011	T	0.28427	-1.0044	8	0.22706	T	0.39	-15.6958	7.7975	0.29156	0.0:0.6401:0.0:0.3599	.	623	E1B6W6	.	E	206;623	ENSP00000345013:G623E	ENSP00000345013:G623E	G	-	2	0	CSF3R	36705496	1.000000	0.71417	0.998000	0.56505	0.660000	0.38997	1.038000	0.30254	-0.022000	0.13986	-0.345000	0.07892	GGA		0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		T	36932909	C	T	36932909	2	4	281	1	0	0	0	0	0	0	0	1	3939	855	30	2		2	CSF3R	1	36932909	Silent	SNP	C	TCGA-B8-5164-01A-01D-1421-08	8692318	36932909	212317712	2	16842											
RLF	6018	hgsc.bcm.edu;ucsc.edu	37	1	40703457	40703458	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:40703457_40703458delAT	ENST00000372771.4	+	8	3110_3111	c.3083_3084delAT	c.(3082-3084)gatfs	p.D1028fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1028					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GAAGGTCTAGATCACAATATTC	0.411																																																0																																										SO:0001589	frameshift_variant	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.3083_3084delAT	1.37:g.40703457_40703458delAT	ENSP00000361857:p.Asp1028fs		Q14CQ1|Q9NU60	Frame_Shift_Del	DEL	ENST00000372771.4	37	CCDS448.1																																																																																				0.411	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		-	40703458	AT	-	40703457	7	5	281	1	0	1	0	1	0	0	0	0	13395	333	12	0	3113	0	RLF	1	40703457	Frame_Shift_Del	DEL	AT	TCGA-B8-5164-01A-01D-1421-08	3770548	40703457	208547164	3	16843											
ZFYVE9	9372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	52703253	52703253	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:52703253G>C	ENST00000371591.1	+	3	295	c.164G>C	c.(163-165)aGt>aCt	p.S55T	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.S55T|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S55T	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	55					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.S55T(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACTTTGGCCAGTGTGAATGAA	0.438																																																1	Substitution - Missense(1)	kidney(1)											85	83	84					1																	52703253		2203	4300	6503	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.164G>C	1.37:g.52703253G>C	ENSP00000360647:p.Ser55Thr		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485639	0.44147	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.55052	1.02;0.54;1.04;1.04	5.66	2.75	0.32379	.	0.308173	0.28130	N	0.016491	T	0.29061	0.0722	N	0.14661	0.345	0.21719	N	0.999577	B;B;P	0.38504	0.287;0.189;0.634	B;B;B	0.30495	0.085;0.039;0.116	T	0.15292	-1.0442	10	0.59425	D	0.04	.	8.4143	0.32662	0.4105:0.0:0.5895:0.0	.	55;55;55	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	T	55	ENSP00000349737:S55T;ENSP00000355358:S55T;ENSP00000287727:S55T;ENSP00000360647:S55T	ENSP00000287727:S55T	S	+	2	0	ZFYVE9	52475841	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.174000	0.31932	0.729000	0.32403	0.655000	0.94253	AGT		0.438	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		C	52703253	G	C	52703253	3	2	281	1	0	0	0	0	1	0	0	0	17676	1029	36	4	170	4	ZFYVE9	1	52703253	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	11999796	52703253	196547368	4	16844											
BRDT	676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	92470112	92470112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:92470112G>T	ENST00000362005.3	+	18	2948	c.2530G>T	c.(2530-2532)Gaa>Taa	p.E844*	BRDT_ENST00000370389.2_Nonsense_Mutation_p.E771*|BRDT_ENST00000394530.3_Nonsense_Mutation_p.E798*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.E844*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.E844*	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	844					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.E844*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCGGACACAGGAACTCATACG	0.393																																																1	Substitution - Nonsense(1)	kidney(1)											84	91	89					1																	92470112		2203	4300	6503	SO:0001587	stop_gained	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2530G>T	1.37:g.92470112G>T	ENSP00000354568:p.Glu844*		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Nonsense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	40	8.339149	0.98767	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	.	.	.	5.49	5.49	0.81192	.	0.000000	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-26.5443	18.1405	0.89638	0.0:0.0:1.0:0.0	.	.	.	.	X	844;771;844;798;844	.	ENSP00000354568:E844X	E	+	1	0	BRDT	92242700	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	5.942000	0.70203	2.579000	0.87056	0.484000	0.47621	GAA		0.393	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		T	92470112	G	T	92470112	4	4	281	1	0	0	0	0	0	1	0	0	1510	1175	41	4	2592	4	BRDT	1	92470112	Nonsense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	39766859	92470112	156780509	5	16845											
CELSR2	1952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109795801	109795801	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:109795801G>A	ENST00000271332.3	+	1	3161	c.3100G>A	c.(3100-3102)Gtc>Atc	p.V1034I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1034	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V1034I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAACAACTATGTCACCAATCG	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)											1	Substitution - Missense(1)	kidney(1)											88	87	87					1																	109795801		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3100G>A	1.37:g.109795801G>A	ENSP00000271332:p.Val1034Ile		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	13.40	2.225618	0.39300	.	.	ENSG00000143126	ENST00000271332	T	0.38077	1.16	5.16	5.16	0.70880	Cadherin-like (1);	.	.	.	.	T	0.13114	0.0318	N	0.25245	0.725	0.39996	D	0.975102	B	0.20988	0.05	B	0.27262	0.078	T	0.06320	-1.0833	9	0.20519	T	0.43	.	11.7995	0.52118	0.1249:0.0:0.8751:0.0	.	1034	Q9HCU4	CELR2_HUMAN	I	1034	ENSP00000271332:V1034I	ENSP00000271332:V1034I	V	+	1	0	CELSR2	109597324	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.087000	0.50167	2.706000	0.92434	0.650000	0.86243	GTC		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109795801	G	A	109795801	3	1	281	1	0	0	0	0	1	0	0	0	3224	1377	48	2	3102	2	CELSR2	1	109795801	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	17325689	109795801	139454820	6	16846											
ADAM30	11085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120437279	120437279	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:120437279T>G	ENST00000369400.1	-	1	1839	c.1681A>C	c.(1681-1683)Aat>Cat	p.N561H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	561	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N561H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTTTCAACATTTATACACTGT	0.373																																																1	Substitution - Missense(1)	kidney(1)											95	97	96					1																	120437279		2203	4300	6503	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1681A>C	1.37:g.120437279T>G	ENSP00000358407:p.Asn561His		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.835697	0.50951	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.23754	1.89	5.25	1.53	0.23141	ADAM, cysteine-rich (2);	0.126274	0.35291	N	0.003313	T	0.28928	0.0718	M	0.75085	2.285	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08806	-1.0704	10	0.87932	D	0	.	5.4014	0.16299	0.0:0.0899:0.3471:0.5629	.	561	Q9UKF2	ADA30_HUMAN	H	561	ENSP00000358407:N561H	ENSP00000358407:N561H	N	-	1	0	ADAM30	120238802	0.888000	0.30383	0.000000	0.03702	0.169000	0.22640	1.973000	0.40550	0.091000	0.17302	0.460000	0.39030	AAT		0.373	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		G	120437279	T	G	120437279	3	3	281	1	0	0	0	0	1	0	0	0	248	1841	64	5	695	5	ADAM30	1	120437279	Missense_Mutation	SNP	T	TCGA-B8-5164-01A-01D-1421-08	10641478	120437279	128813342	7	16847											
CTSE	1510	hgsc.bcm.edu;ucsc.edu	37	1	206320203	206320203	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr1:206320203delA	ENST00000358184.2	+	4	464	c.346delA	c.(346-348)acgfs	p.T116fs	CTSE_ENST00000361052.3_Frame_Shift_Del_p.T116fs|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Frame_Shift_Del_p.T116fs|CTSE_ENST00000432969.2_Frame_Shift_Del_p.T41fs	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	116					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTTTCCAGAGACGCACAGCAG	0.577																																																0													114	101	106					1																	206320203		2203	4300	6503	SO:0001589	frameshift_variant	1510			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.346delA	1.37:g.206320203delA	ENSP00000350911:p.Thr116fs		Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Frame_Shift_Del	DEL	ENST00000358184.2	37	CCDS1462.1																																																																																				0.577	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		-	206320203	A	-	206320203	7	5	281	1	0	1	0	1	0	0	0	0	4035	275	10	0	360	0	CTSE	1	206320203	Frame_Shift_Del	DEL	A	TCGA-B8-5164-01A-01D-1421-08	85882924	206320203	42930418	8	16848											
OTOF	9381	broad.mit.edu	37	2	26698885	26698885	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:26698885C>A	ENST00000272371.2	-	24	3014	c.2888G>T	c.(2887-2889)cGa>cTa	p.R963L	OTOF_ENST00000403946.3_Missense_Mutation_p.R963L|OTOF_ENST00000402415.3_Missense_Mutation_p.R273L|OTOF_ENST00000339598.3_Missense_Mutation_p.R216L|OTOF_ENST00000338581.6_Missense_Mutation_p.R216L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	963	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.R216L(1)|p.R273L(1)|p.R963L(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGTGCGCTCGGAGCTGGAA	0.642																																					GBM(102;732 1451 20652 24062 31372)											3	Substitution - Missense(3)	kidney(3)											42	38	39					2																	26698885		2201	4298	6499	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2888G>T	2.37:g.26698885C>A	ENSP00000272371:p.Arg963Leu		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885630	0.91814	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.41	4.52	0.55395	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	M	0.86178	2.8	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.86031	0.1513	10	0.66056	D	0.02	-7.6335	15.1572	0.72752	0.1426:0.8574:0.0:0.0	.	963;216;273;216	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	L	216;216;273;963;963	ENSP00000345137:R216L;ENSP00000344521:R216L;ENSP00000383906:R273L;ENSP00000272371:R963L;ENSP00000385255:R963L	ENSP00000272371:R963L	R	-	2	0	OTOF	26552389	1.000000	0.71417	0.941000	0.38009	0.960000	0.62799	6.017000	0.70805	1.276000	0.44395	0.561000	0.74099	CGA		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			A	26698885	C	A	26698885	3	1	281	1	0	0	0	0	1	0	0	0	11305	884	31	4	3382	4	OTOF	2	26698885	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08		26698885	216500488	9	16849											
SNX17	9784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27598997	27598997	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:27598997C>G	ENST00000233575.2	+	12	1351	c.1129C>G	c.(1129-1131)Cag>Gag	p.Q377E	SNX17_ENST00000543024.1_Missense_Mutation_p.Q163E|SNX17_ENST00000542478.1_Missense_Mutation_p.Q163E|SNX17_ENST00000537606.1_Missense_Mutation_p.Q352E|ZNF513_ENST00000491924.1_5'Flank	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	377	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)	p.Q377E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTGCTTGCAGTCCATGGT	0.522																																																1	Substitution - Missense(1)	kidney(1)											140	127	132					2																	27598997		2203	4300	6503	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1129C>G	2.37:g.27598997C>G	ENSP00000233575:p.Gln377Glu		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099157	0.76983	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.46819	1.44;0.86;1.03;0.86	5.88	5.88	0.94601	.	0.094876	0.85682	D	0.000000	T	0.68302	0.2986	M	0.83483	2.645	0.80722	D	1	P;P;P;D	0.63880	0.675;0.868;0.787;0.993	B;P;B;P	0.58331	0.145;0.504;0.404;0.837	T	0.66921	-0.5801	10	0.35671	T	0.21	-16.7955	18.8043	0.92030	0.0:1.0:0.0:0.0	.	352;365;357;377	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	E	377;163;352;163	ENSP00000233575:Q377E;ENSP00000441779:Q163E;ENSP00000439208:Q352E;ENSP00000442567:Q163E	ENSP00000233575:Q377E	Q	+	1	0	SNX17	27452501	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	7.575000	0.82447	2.797000	0.96272	0.561000	0.74099	CAG		0.522	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		G	27598997	C	G	27598997	3	3	281	1	0	0	0	0	1	0	0	0	14894	711	25	4	1175	4	SNX17	2	27598997	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	900112	27598997	215600376	10	16850											
STON1	11037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48809434	48809434	+	Silent	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:48809434G>A	ENST00000406226.1	+	3	1857	c.1662G>A	c.(1660-1662)caG>caA	p.Q554Q	STON1-GTF2A1L_ENST00000394751.3_Silent_p.Q554Q|STON1-GTF2A1L_ENST00000309827.2_Silent_p.Q554Q|STON1-GTF2A1L_ENST00000405008.1_Silent_p.Q554Q|STON1_ENST00000309835.3_Silent_p.Q554Q|STON1_ENST00000404752.1_Silent_p.Q554Q|STON1-GTF2A1L_ENST00000402114.2_Silent_p.Q554Q|STON1-GTF2A1L_ENST00000394754.1_Silent_p.Q554Q	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	554	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.Q554Q(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATTGGCGCAGAGGTCATCCT	0.483																																																2	Substitution - coding silent(2)	kidney(2)											149	146	147					2																	48809434		2203	4300	6503	SO:0001819	synonymous_variant	286749			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1662G>A	2.37:g.48809434G>A			A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	CCDS1841.1																																																																																				0.483	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		A	48809434	G	A	48809434	2	1	281	1	0	0	0	0	0	0	0	1	15321	933	33	2		2	STON1	2	48809434	Silent	SNP	G	TCGA-B8-5164-01A-01D-1421-08	21210437	48809434	194389939	11	16851											
WDR92	116143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	68384457	68384457	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:68384457G>C	ENST00000295121.6	-	1	235	c.119C>G	c.(118-120)gCa>gGa	p.A40G	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000406245.2_Intron|PNO1_ENST00000263657.2_5'Flank|WDR92_ENST00000492039.2_Intron|WDR92_ENST00000409164.1_Missense_Mutation_p.A40G	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	40					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)	p.A40G(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						GGTGCCCCGTGCGAAGTTGCC	0.602																																																1	Substitution - Missense(1)	kidney(1)											75	71	72					2																	68384457		2203	4300	6503	SO:0001583	missense	116143			AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"WD repeat domain containing"	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.119C>G	2.37:g.68384457G>C	ENSP00000295121:p.Ala40Gly		Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758030	0.89843	.	.	ENSG00000243667	ENST00000295121;ENST00000409164	T;T	0.73897	-0.79;-0.79	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.269485	0.29853	N	0.011023	T	0.78259	0.4255	M	0.80422	2.495	0.80722	D	1	B	0.28971	0.229	B	0.27380	0.079	T	0.77645	-0.2510	10	0.62326	D	0.03	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	40	Q96MX6	WDR92_HUMAN	G	40	ENSP00000295121:A40G;ENSP00000386746:A40G	ENSP00000295121:A40G	A	-	2	0	WDR92	68237961	1.000000	0.71417	0.995000	0.50966	1.000000	0.99986	6.818000	0.75257	2.666000	0.90696	0.655000	0.94253	GCA		0.602	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		C	68384457	G	C	68384457	3	2	281	1	0	0	0	0	1	0	0	0	17344	1319	46	4	986	4	WDR92	2	68384457	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	19575023	68384457	174814916	12	16852											
XRCC5	7520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	217001838	217001838	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:217001838A>C	ENST00000392133.3	+	13	1602	c.1141A>C	c.(1141-1143)Att>Ctt	p.I381L	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.I381L			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	381	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.I381L(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTCCTCCCTGATTCATGCTTT	0.408								Non-homologous end-joining																																								1	Substitution - Missense(1)	kidney(1)											195	174	181					2																	217001838		2203	4300	6503	SO:0001583	missense	7520			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1141A>C	2.37:g.217001838A>C	ENSP00000375978:p.Ile381Leu		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.975948	0.74360	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.28895	1.59;1.59	5.56	0.383	0.16239	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.334454	0.31936	N	0.006829	T	0.49643	0.1569	M	0.86740	2.835	0.49687	D	0.999818	B	0.21147	0.052	P	0.46685	0.524	T	0.43032	-0.9416	10	0.27785	T	0.31	.	9.7444	0.40437	0.6075:0.0:0.3925:0.0	.	381	P13010	XRCC5_HUMAN	L	381	ENSP00000375978:I381L;ENSP00000375977:I381L	ENSP00000375977:I381L	I	+	1	0	XRCC5	216710083	1.000000	0.71417	0.990000	0.47175	0.908000	0.53690	2.623000	0.46435	-0.154000	0.11118	0.533000	0.62120	ATT		0.408	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		C	217001838	A	C	217001838	3	2	281	1	0	0	0	0	1	0	0	0	17461	333	12	5	1183	5	XRCC5	2	217001838	Missense_Mutation	SNP	A	TCGA-B8-5164-01A-01D-1421-08	148617381	217001838	26197535	13	16853											
TTLL4	9654	hgsc.bcm.edu	37	2	219602963	219602964	+	Frame_Shift_Ins	INS	-	-	G	rs151184805	byFrequency	TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:219602963_219602964insG	ENST00000392102.1	+	3	904_905	c.564_565insG	c.(565-567)gggfs	p.G189fs	TTLL4_ENST00000258398.4_Frame_Shift_Ins_p.G189fs|TTLL4_ENST00000442769.1_Frame_Shift_Ins_p.G189fs|TTLL4_ENST00000457313.1_Frame_Shift_Ins_p.G24fs	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	189					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGGCAGCGGCTGGGGAAAACCC	0.54																																					GBM(172;1818 2053 15407 20943 49753)											0																																										SO:0001589	frameshift_variant	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.568dupG	2.37:g.219602967_219602967dupG	ENSP00000375951:p.Gly189fs		A8K6V5|Q8WW29	Frame_Shift_Ins	INS	ENST00000392102.1	37	CCDS2422.1																																																																																				0.54	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		G	219602964	-	G	219602963	7	5	281	1	0	1	1	0	0	0	0	0	16734	1567	55	0	566	0	TTLL4	2	219602963	Frame_Shift_Ins	INS	-	TCGA-B8-5164-01A-01D-1421-08	2601125	219602963	23596410	14	16854											
NDUFA10	4705	broad.mit.edu	37	2	240960806	240960806	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr2:240960806C>A	ENST00000252711.2	-	3	368	c.268G>T	c.(268-270)Ggg>Tgg	p.G90W	NDUFA10_ENST00000404554.1_Missense_Mutation_p.G90W|NDUFA10_ENST00000307300.4_Missense_Mutation_p.G90W|NDUFA10_ENST00000407129.3_Missense_Mutation_p.G90W	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	90					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)	p.G90W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		TAATGAATCCCCGCTTCAGGA	0.502											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											63	64	64					2																	240960806		2203	4300	6503	SO:0001583	missense	4705			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"Mitochondrial respiratory chain complex / Complex I"	7684	protein-coding gene	gene with protein product	"complex I 42kDa subunit"	603835	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.268G>T	2.37:g.240960806C>A	ENSP00000252711:p.Gly90Trp	2423	Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736262	0.69189	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91	4.25	4.25	0.50352	.	0.051143	0.85682	D	0.000000	D	0.96981	0.9014	M	0.66939	2.045	0.38977	D	0.958875	D;D;D;D	0.76494	0.999;0.999;0.995;0.996	D;D;P;P	0.74674	0.984;0.958;0.883;0.888	D	0.98104	1.0416	10	0.72032	D	0.01	-34.4922	14.939	0.70978	0.0:1.0:0.0:0.0	.	90;90;95;90	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	W	90	ENSP00000252711:G90W;ENSP00000385697:G90W;ENSP00000411527:G90W;ENSP00000302321:G90W;ENSP00000383975:G90W	ENSP00000252711:G90W	G	-	1	0	NDUFA10	240609479	1.000000	0.71417	0.154000	0.22540	0.146000	0.21551	5.451000	0.66632	2.301000	0.77427	0.563000	0.77884	GGG		0.502	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		A	240960806	C	A	240960806	3	1	281	1	0	0	0	0	1	0	0	0	10262	623	22	4	831	4	NDUFA10	2	240960806	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	21357843	240960806	2238567	15	16855											
FGD5	152273	broad.mit.edu	37	3	14964675	14964675	+	Silent	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:14964675G>C	ENST00000285046.5	+	16	4040	c.3930G>C	c.(3928-3930)ctG>ctC	p.L1310L	FGD5_ENST00000543601.1_Silent_p.L1069L|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1310					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L1310L(1)|p.L1069L(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCCGGGCCTGATGAGAGGTA	0.607																																																2	Substitution - coding silent(2)	kidney(2)											23	25	24					3																	14964675		1952	4154	6106	SO:0001819	synonymous_variant	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3930G>C	3.37:g.14964675G>C			B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	CCDS46767.1																																																																																				0.607	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		C	14964675	G	C	14964675	2	2	281	1	0	0	0	0	0	0	0	1	5838	1277	45	4		4	FGD5	3	14964675	Silent	SNP	G	TCGA-B8-5164-01A-01D-1421-08		14964675	183057755	16	16856											
CHDH	55349	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53853056	53853056	+	Silent	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:53853056C>A	ENST00000315251.6	-	8	1712	c.1275G>T	c.(1273-1275)ggG>ggT	p.G425G		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	425					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)	p.G425G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CCCGCATGGGCCCCACATGTA	0.557																																																1	Substitution - coding silent(1)	kidney(1)											131	113	119					3																	53853056		2203	4300	6503	SO:0001819	synonymous_variant	55349			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1275G>T	3.37:g.53853056C>A			Q9NY17	Silent	SNP	ENST00000315251.6	37	CCDS2873.1																																																																																				0.557	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		A	53853056	C	A	53853056	2	1	281	1	0	0	0	0	0	0	0	1	3335	726	26	4		4	CHDH	3	53853056	Silent	SNP	C	TCGA-B8-5164-01A-01D-1421-08	38888381	53853056	144169374	17	16857											
FLNB	2317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	57994561	57994561	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:57994561G>C	ENST00000295956.4	+	1	435	c.270G>C	c.(268-270)gaG>gaC	p.E90D	FLNB_ENST00000490882.1_Missense_Mutation_p.E90D|FLNB_ENST00000358537.3_Missense_Mutation_p.E90D|FLNB_ENST00000357272.4_Missense_Mutation_p.E90D|FLNB_ENST00000348383.5_Missense_Mutation_p.E90D|FLNB_ENST00000429972.2_Missense_Mutation_p.E90D	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	90	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E90D(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGACCGTGAGAGCATCAAGC	0.667																																																2	Substitution - Missense(2)	kidney(2)											97	102	100					3																	57994561		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.270G>C	3.37:g.57994561G>C	ENSP00000295956:p.Glu90Asp		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381042	0.61845	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272	D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.34	3.53	0.40419	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.21905	0.028;0.062;0.035;0.035	B;B;B;B	0.35971	0.008;0.215;0.022;0.022	D	0.88990	0.3414	10	0.72032	D	0.01	.	10.6196	0.45472	0.1595:0.0:0.8405:0.0	.	90;90;90;90	O75369-2;B2ZZ83;Q60FE7;O75369	.;.;.;FLNB_HUMAN	D	90	ENSP00000295956:E90D;ENSP00000420213:E90D;ENSP00000351339:E90D;ENSP00000415599:E90D;ENSP00000232447:E90D;ENSP00000349819:E90D	ENSP00000295956:E90D	E	+	3	2	FLNB	57969601	1.000000	0.71417	0.979000	0.43373	0.928000	0.56348	1.764000	0.38471	0.627000	0.30340	-0.225000	0.12378	GAG		0.667	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		C	57994561	G	C	57994561	3	2	281	1	0	0	0	0	1	0	0	0	5936	933	33	4	272	4	FLNB	3	57994561	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	4141505	57994561	140027869	18	16858											
MYLK	4638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	123451941	123451941	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:123451941T>G	ENST00000475616.1	-	8	1317	c.1318A>C	c.(1318-1320)Att>Ctt	p.I440L	MYLK_ENST00000360772.3_Missense_Mutation_p.I440L|MYLK_ENST00000359169.1_Missense_Mutation_p.I440L|MYLK_ENST00000360304.3_Missense_Mutation_p.I440L|MYLK_ENST00000346322.5_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	440	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.I440L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGCTTTGGAATCCCGGAAACT	0.557																																																1	Substitution - Missense(1)	kidney(1)											41	38	39					3																	123451941		2203	4300	6503	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1318A>C	3.37:g.123451941T>G	ENSP00000418335:p.Ile440Leu		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	4.882	0.163968	0.09287	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.42	1.71	0.24356	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38665	0.1049	N	0.10916	0.065	0.09310	N	0.999999	B;B;B	0.17852	0.011;0.019;0.024	B;B;B	0.15484	0.008;0.008;0.013	T	0.20940	-1.0260	9	0.11485	T	0.65	.	3.6111	0.08061	0.1673:0.277:0.0:0.5558	.	440;440;440	Q15746-6;Q15746-3;Q15746	.;.;MYLK_HUMAN	L	440	ENSP00000354004:I440L;ENSP00000353452:I440L;ENSP00000352088:I440L;ENSP00000418335:I440L	ENSP00000352088:I440L	I	-	1	0	MYLK	124934631	0.999000	0.42202	0.434000	0.26772	0.691000	0.40173	0.952000	0.29149	0.165000	0.19558	0.533000	0.62120	ATT		0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		G	123451941	T	G	123451941	3	3	281	1	0	0	0	0	1	0	0	0	10058	1435	50	5	4522	5	MYLK	3	123451941	Missense_Mutation	SNP	T	TCGA-B8-5164-01A-01D-1421-08	65457380	123451941	74570489	19	16859											
EEFSEC	60678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	127983506	127983506	+	Missense_Mutation	SNP	C	C	T	rs142548867	byFrequency	TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:127983506C>T	ENST00000254730.6	+	4	722	c.668C>T	c.(667-669)cCg>cTg	p.P223L	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	223					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.P223L(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCCTCGGGACCGTTCCTCATG	0.562													C|||	11	0.00219649	0.0	0.0014	5008	,	,		22144	0.0		0.0	False		,,,				2504	0.0102															1	Substitution - Missense(1)	kidney(1)						C	LEU/PRO	0,4406		0,0,2203	196	170	179		668	4.2	0.9	3	dbSNP_134	179	5,8595	4.3+/-15.6	0,5,4295	yes	missense	EEFSEC	NM_021937.3	98	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	223/597	127983506	5,13001	2203	4300	6503	SO:0001583	missense	60678				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.668C>T	3.37:g.127983506C>T	ENSP00000254730:p.Pro223Leu		Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	CCDS33849.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.28	3.350052	0.61183	0.0	5.81E-4	ENSG00000132394	ENST00000254730	T	0.50277	0.75	5.08	4.21	0.49690	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.223006	0.47093	D	0.000260	T	0.49184	0.1542	M	0.72479	2.2	0.80722	D	1	D	0.54964	0.969	P	0.45232	0.474	T	0.54708	-0.8253	10	0.72032	D	0.01	.	9.6893	0.40118	0.1475:0.7764:0.0:0.0761	.	223	P57772	SELB_HUMAN	L	223	ENSP00000254730:P223L	ENSP00000254730:P223L	P	+	2	0	EEFSEC	129466196	0.886000	0.30341	0.874000	0.34290	0.809000	0.45718	3.459000	0.53021	1.159000	0.42565	-0.191000	0.12829	CCG		0.562	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		T	127983506	C	T	127983506	3	4	281	1	0	0	0	0	1	0	0	0	4933	652	23	1	682	1	EEFSEC	3	127983506	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	4531565	127983506	70038924	20	16860											
XRN1	54464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142098968	142098968	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr3:142098968T>A	ENST00000264951.4	-	23	2788	c.2671A>T	c.(2671-2673)Att>Ttt	p.I891F	XRN1_ENST00000392981.2_Missense_Mutation_p.I891F	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	891					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.I891F(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCACATGGAATGCTGAAAATC	0.318																																																1	Substitution - Missense(1)	kidney(1)											108	100	103					3																	142098968		2203	4300	6503	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2671A>T	3.37:g.142098968T>A	ENSP00000264951:p.Ile891Phe		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140908	0.77775	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.32515	1.46;1.45	5.37	5.37	0.77165	.	0.069713	0.64402	D	0.000008	T	0.41604	0.1166	L	0.47016	1.485	0.80722	D	1	B;D;D	0.54207	0.105;0.965;0.964	B;P;P	0.53401	0.034;0.725;0.535	T	0.31779	-0.9931	10	0.66056	D	0.02	-16.5846	15.3718	0.74570	0.0:0.0:0.0:1.0	.	752;891;891	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	F	891	ENSP00000264951:I891F;ENSP00000376707:I891F	ENSP00000264951:I891F	I	-	1	0	XRN1	143581658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.849000	0.55910	2.039000	0.60335	0.477000	0.44152	ATT		0.318	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		A	142098968	T	A	142098968	3	1	281	1	0	0	0	0	1	0	0	0	17464	1464	51	5	2529	5	XRN1	3	142098968	Missense_Mutation	SNP	T	TCGA-B8-5164-01A-01D-1421-08	14115462	142098968	55923462	21	16861											
DRD5	1816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	9784959	9784959	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr4:9784959C>A	ENST00000304374.2	+	1	1702	c.1306C>A	c.(1306-1308)Cgc>Agc	p.R436S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	436					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.R436S(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCCTTTCGATCGCATGTTCCA	0.557																																																1	Substitution - Missense(1)	kidney(1)											75	68	71					4																	9784959		2203	4300	6503	SO:0001583	missense	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1306C>A	4.37:g.9784959C>A	ENSP00000306129:p.Arg436Ser		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	3.460	-0.110166	0.06924	.	.	ENSG00000169676	ENST00000304374	T	0.65549	-0.16	4.53	2.59	0.31030	.	0.584500	0.15361	N	0.266384	T	0.55832	0.1945	M	0.66939	2.045	0.09310	N	0.999999	B	0.33583	0.418	B	0.32624	0.149	T	0.46091	-0.9216	10	0.32370	T	0.25	.	8.7358	0.34528	0.2122:0.6581:0.1297:0.0	.	436	P21918	DRD5_HUMAN	S	436	ENSP00000306129:R436S	ENSP00000306129:R436S	R	+	1	0	DRD5	9394057	0.105000	0.21958	0.001000	0.08648	0.032000	0.12392	0.714000	0.25808	1.115000	0.41800	-0.515000	0.04445	CGC		0.557	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			A	9784959	C	A	9784959	3	1	281	1	0	0	0	0	1	0	0	0	4762	884	31	4	1308	4	DRD5	4	9784959	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08		9784959	181369317	22	16862											
PCDH7	5099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	31144197	31144197	+	Missense_Mutation	SNP	C	C	T	rs374867601		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr4:31144197C>T	ENST00000543491.1	+	3	3494	c.3494C>T	c.(3493-3495)cCg>cTg	p.P1165L				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1110L(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGCACTTCTCCGGAGAGGAAG	0.562																																																1	Substitution - Missense(1)	kidney(1)						C	LEU/PRO,LEU/PRO	0,4034		0,0,2017	91	90	91		3494,3470	5.9	1	4		91	1,8399		0,1,4199	no	missense,missense	PCDH7	NM_001173523.1,NM_032457.3	98,98	0,1,6216	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	1165/1256,1157/1248	31144197	1,12433	2017	4200	6217	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3494C>T	4.37:g.31144197C>T	ENSP00000441802:p.Pro1165Leu		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	CCDS54753.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382876	0.82792	0.0	1.19E-4	ENSG00000169851	ENST00000543491;ENST00000333135	T	0.60424	0.19	5.86	5.86	0.93980	.	.	.	.	.	T	0.78136	0.4236	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78391	-0.2222	9	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	1165;1110	F5GWJ1;O60245-3	.;.	L	1165;1110	ENSP00000441802:P1165L	ENSP00000330302:P1110L	P	+	2	0	PCDH7	30753295	1.000000	0.71417	0.969000	0.41365	0.862000	0.49288	7.445000	0.80570	2.937000	0.99478	0.650000	0.86243	CCG		0.562	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		T	31144197	C	T	31144197	3	4	281	1	0	0	0	0	1	0	0	0	11518	652	23	1	3589	1	PCDH7	4	31144197	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	21359238	31144197	160010079	23	16863											
C5orf22	55322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	31538433	31538433	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:31538433C>G	ENST00000325366.9	+	4	571	c.444C>G	c.(442-444)aaC>aaG	p.N148K	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	148								p.N148K(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AGCTAGAGAACCAAAAACCTT	0.348																																																1	Substitution - Missense(1)	kidney(1)											83	84	84					5																	31538433		2203	4300	6503	SO:0001583	missense	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.444C>G	5.37:g.31538433C>G	ENSP00000326879:p.Asn148Lys		Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691948	0.68271	.	.	ENSG00000082213	ENST00000325366	T	0.43688	0.94	5.99	4.23	0.50019	.	0.122237	0.85682	D	0.000000	T	0.55305	0.1912	M	0.75264	2.295	0.80722	D	1	D	0.54601	0.967	P	0.54759	0.76	T	0.58803	-0.7572	10	0.72032	D	0.01	-18.0067	10.8249	0.46627	0.0:0.7496:0.0:0.2504	.	148	Q49AR2	CE022_HUMAN	K	148	ENSP00000326879:N148K	ENSP00000326879:N148K	N	+	3	2	C5orf22	31574190	0.951000	0.32395	0.983000	0.44433	0.977000	0.68977	1.752000	0.38349	0.883000	0.36040	-0.140000	0.14226	AAC		0.348	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		G	31538433	C	G	31538433	3	3	281	1	0	0	0	0	1	0	0	0	2287	506	18	4	458	4	C5orf22	5	31538433	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08		31538433	149376827	24	16864											
KIF2A	3796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	61643911	61643911	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:61643911C>A	ENST00000401507.3	+	3	507	c.196C>A	c.(196-198)Ctt>Att	p.L66I	KIF2A_ENST00000407818.3_Missense_Mutation_p.L66I|KIF2A_ENST00000381103.2_Missense_Mutation_p.L46I|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.L39I	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	66	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L39I(1)|p.L66I(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TAACCCTGACCTTGTTCCTGA	0.378																																																2	Substitution - Missense(2)	kidney(2)											141	139	140					5																	61643911		2203	4300	6503	SO:0001583	missense	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.196C>A	5.37:g.61643911C>A	ENSP00000385622:p.Leu66Ile		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028619	0.54790	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000512541;ENST00000506857	T;T;T;T;T;T	0.79554	-1.05;-1.11;1.41;-1.28;0.34;-1.03	5.36	5.36	0.76844	.	0.060403	0.64402	D	0.000004	T	0.78142	0.4237	L	0.37507	1.11	0.43919	D	0.996566	B;B;B;B	0.31879	0.344;0.337;0.005;0.227	B;B;B;B	0.42188	0.21;0.379;0.012;0.142	T	0.78191	-0.2300	10	0.56958	D	0.05	.	12.4441	0.55641	0.0:0.9232:0.0:0.0768	.	66;66;66;46	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	I	66;46;66;66;39;39	ENSP00000385622:L66I;ENSP00000370493:L46I;ENSP00000423542:L66I;ENSP00000385000:L66I;ENSP00000425411:L39I;ENSP00000423772:L39I	ENSP00000370493:L46I	L	+	1	0	KIF2A	61679668	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.446000	0.44908	2.522000	0.85027	0.460000	0.39030	CTT		0.378	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		A	61643911	C	A	61643911	3	1	281	1	0	0	0	0	1	0	0	0	8299	681	24	4	206	4	KIF2A	5	61643911	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	30105478	61643911	119271349	25	16865											
RGNEF	64283	broad.mit.edu;ucsc.edu	37	5	73193844	73193844	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:73193844G>A	ENST00000426542.2	+	29	3919	c.3899G>A	c.(3898-3900)tGt>tAt	p.C1300Y	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.C987Y|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.C1300Y|ARHGEF28_ENST00000287898.5_Intron|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.C1300Y|ARHGEF28_ENST00000512883.1_Intron|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.C1300Y|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.C1300Y			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1300	Interaction with PTK2/FAK1; required for regulation of axonal branching and synapse formation. {ECO:0000250}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.C1300Y(1)									AGTCAATCATGTGAGGACAGT	0.458																																																1	Substitution - Missense(1)	kidney(1)											79	78	79					5																	73193844		2088	4250	6338	SO:0001583	missense	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3899G>A	5.37:g.73193844G>A	ENSP00000412175:p.Cys1300Tyr		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821326	0.16678	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T	0.08720	3.22;3.22;3.22;3.22;3.22;3.06	4.88	2.03	0.26663	.	3.968900	0.03963	U	0.290325	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.25955	0.003;0.138;0.0;0.004	B;B;B;B	0.16289	0.0;0.015;0.0;0.001	T	0.38628	-0.9652	10	0.52906	T	0.07	.	7.2589	0.26191	0.0:0.5645:0.3414:0.0941	.	987;1300;1300;1300	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	Y	1300;1300;1300;1300;1300;987	ENSP00000296794:C1300Y;ENSP00000441913:C1300Y;ENSP00000441436:C1300Y;ENSP00000411459:C1300Y;ENSP00000412175:C1300Y;ENSP00000296799:C987Y	ENSP00000296794:C1300Y	C	+	2	0	RP11-428C6.1	73229600	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	1.204000	0.32296	0.104000	0.17725	-0.353000	0.07706	TGT		0.458	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			A	73193844	G	A	73193844	3	1	281	1	0	0	0	0	1	0	0	0	13289	1377	48	2	4013	2	RGNEF	5	73193844	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	11549933	73193844	107721416	26	16866											
PCDH1	5097	broad.mit.edu;hgsc.bcm.edu	37	5	141243175	141243175	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:141243175C>G	ENST00000394536.3	-	3	2860	c.2721G>C	c.(2719-2721)aaG>aaC	p.K907N	PCDH1_ENST00000456271.1_Missense_Mutation_p.K895N|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Missense_Mutation_p.K885N|PCDH1_ENST00000287008.3_Missense_Mutation_p.K907N	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	907					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K907N(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTTTGTTTCCCTTGGAGGCCT	0.577																																					Ovarian(132;1609 1739 4190 14731 45037)											1	Substitution - Missense(1)	kidney(1)											91	93	92					5																	141243175		2203	4300	6503	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2721G>C	5.37:g.141243175C>G	ENSP00000378043:p.Lys907Asn		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	11.77	1.738418	0.30774	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.75	1.73	0.24493	Protocadherin (1);	0.000000	0.53938	D	0.000049	T	0.59972	0.2233	M	0.77103	2.36	0.53688	D	0.999978	D;D	0.64830	0.994;0.988	D;P	0.63703	0.917;0.796	T	0.58020	-0.7710	10	0.51188	T	0.08	.	5.7025	0.17891	0.0:0.6447:0.0:0.3553	.	907;907	Q08174;Q08174-2	PCDH1_HUMAN;.	N	907;907;895;918;885	ENSP00000287008:K907N;ENSP00000378043:K907N;ENSP00000403497:K895N;ENSP00000350122:K918N;ENSP00000438825:K885N	ENSP00000287008:K907N	K	-	3	2	PCDH1	141223359	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.442000	0.21628	0.603000	0.29913	0.457000	0.33378	AAG		0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		G	141243175	C	G	141243175	3	3	281	1	0	0	0	0	1	0	0	0	11508	680	24	4	1088	4	PCDH1	5	141243175	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	68049331	141243175	39672085	27	16867											
ADRB2	154	hgsc.bcm.edu;ucsc.edu	37	5	148207202	148207202	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:148207202delA	ENST00000305988.4	+	1	1047	c.808delA	c.(808-810)aaafs	p.K270fs		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	270					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	GAAGGAGCACAAAGCCCTCAA	0.542																																																0													103	92	95					5																	148207202		2203	4300	6503	SO:0001589	frameshift_variant	154			AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.808delA	5.37:g.148207202delA	ENSP00000305372:p.Lys270fs		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Frame_Shift_Del	DEL	ENST00000305988.4	37	CCDS4292.1																																																																																				0.542	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		-	148207202	A	-	148207202	7	5	281	1	0	1	0	1	0	0	0	0	341	131	5	0	810	0	ADRB2	5	148207202	Frame_Shift_Del	DEL	A	TCGA-B8-5164-01A-01D-1421-08	6964027	148207202	32708058	28	16868											
AFAP1L1	134265	broad.mit.edu;hgsc.bcm.edu	37	5	148685923	148685923	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:148685923G>T	ENST00000296721.4	+	6	589	c.491G>T	c.(490-492)aGc>aTc	p.S164I	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.S164I|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	164						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S164I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCAGACAGCAGCTACCCT	0.567																																																1	Substitution - Missense(1)	kidney(1)											62	51	55					5																	148685923		2203	4300	6503	SO:0001583	missense	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.491G>T	5.37:g.148685923G>T	ENSP00000296721:p.Ser164Ile		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088337	0.55968	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.48522	0.81;0.81	5.29	2.94	0.34122	.	0.245175	0.47093	D	0.000251	T	0.52075	0.1712	L	0.54323	1.7	0.33092	D	0.538027	P;P;D	0.53885	0.483;0.612;0.963	P;B;P	0.53809	0.452;0.347;0.735	T	0.64753	-0.6333	10	0.87932	D	0	-11.9745	9.2198	0.37370	0.2631:0.0:0.7369:0.0	.	164;164;164	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	I	164	ENSP00000296721:S164I;ENSP00000424427:S164I	ENSP00000296721:S164I	S	+	2	0	AFAP1L1	148666116	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.150000	0.42254	0.578000	0.29487	0.561000	0.74099	AGC		0.567	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		T	148685923	G	T	148685923	3	4	281	1	0	0	0	0	1	0	0	0	354	971	34	4	513	4	AFAP1L1	5	148685923	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	478721	148685923	32229337	29	16869											
CPEB4	80315	hgsc.bcm.edu;ucsc.edu	37	5	173316872	173316874	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr5:173316872_173316874delAAT	ENST00000265085.5	+	1	1590_1592	c.136_138delAAT	c.(136-138)aatdel	p.N48del	CPEB4_ENST00000334035.5_In_Frame_Del_p.N48del|CPEB4_ENST00000519835.1_In_Frame_Del_p.N48del|CPEB4_ENST00000520867.1_In_Frame_Del_p.N48del	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	48					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTTTATAAATAATAACACAG	0.478																																																0										0,4254		0,0,2127						4.4	1			112	4,8242		1,2,4120	no	coding	CPEB4	NM_030627.2		1,2,6247	A1A1,A1R,RR		0.0485,0.0,0.032				4,12496				SO:0001651	inframe_deletion	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.136_138delAAT	5.37:g.173316875_173316877delAAT	ENSP00000265085:p.Asn48del		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	In_Frame_Del	DEL	ENST00000265085.5	37	CCDS4390.1																																																																																				0.478	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		-	173316874	AAT	-	173316872	7	5	281	1	0	1	0	1	0	0	0	0	3805	14	1	0	138	0	CPEB4	5	173316872	In_Frame_Del	DEL	AAT	TCGA-B8-5164-01A-01D-1421-08	24630949	173316872	7598388	30	16870											
CDKAL1	54901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	20781422	20781422	+	Silent	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr6:20781422G>C	ENST00000378610.1	+	6	574	c.564G>C	c.(562-564)cgG>cgC	p.R188R	CDKAL1_ENST00000378624.4_Silent_p.R118R|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000274695.4_Silent_p.R188R			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	188					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.R188R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ATGGAAGGCGGCTTGGGGGAG	0.418																																																1	Substitution - coding silent(1)	kidney(1)											150	147	148					6																	20781422		2203	4300	6503	SO:0001819	synonymous_variant	54901			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.564G>C	6.37:g.20781422G>C			A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	37	CCDS4546.1																																																																																				0.418	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		C	20781422	G	C	20781422	2	2	281	1	0	0	0	0	0	0	0	1	3154	1190	42	4		4	CDKAL1	6	20781422	Silent	SNP	G	TCGA-B8-5164-01A-01D-1421-08		20781422	150333645	31	16871											
TXLNB	167838	hgsc.bcm.edu;ucsc.edu	37	6	139583897	139583899	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr6:139583897_139583899delTGA	ENST00000358430.3	-	5	931_933	c.699_701delTCA	c.(697-702)cttcag>ctg	p.Q234del		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	234						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ACGTGCCCGCTGAAGCGCCTCTT	0.488																																																0																																										SO:0001651	inframe_deletion	167838				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.699_701delTCA	6.37:g.139583897_139583899delTGA	ENSP00000351206:p.Gln234del		Q5VTF3|Q76L25|Q86T52|Q8N3S2	In_Frame_Del	DEL	ENST00000358430.3	37	CCDS34545.1																																																																																				0.488	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		-	139583899	TGA	-	139583897	7	5	281	1	0	1	0	1	0	0	0	0	16793	1580	55	0	1377	0	TXLNB	6	139583897	In_Frame_Del	DEL	TGA	TCGA-B8-5164-01A-01D-1421-08	118802475	139583897	31531170	32	16872											
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21904264	21904264	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr7:21904264A>C	ENST00000409508.3	+	70	11516	c.11485A>C	c.(11485-11487)Agt>Cgt	p.S3829R	DNAH11_ENST00000328843.6_Missense_Mutation_p.S3836R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3836					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S3836R(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAGTCATGGAGTGCTATCAA	0.363									Kartagener syndrome																																							1	Substitution - Missense(1)	kidney(1)											137	129	132					7																	21904264		1852	4099	5951	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11485A>C	7.37:g.21904264A>C	ENSP00000475939:p.Ser3829Arg		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	A	15.63	2.889069	0.52014	.	.	ENSG00000105877	ENST00000328843	T	0.08546	3.08	5.22	5.22	0.72569	Dynein heavy chain (1);	0.099716	0.64402	D	0.000002	T	0.22085	0.0532	.	.	.	0.49798	D	0.999825	D	0.89917	1.0	D	0.76071	0.987	T	0.04551	-1.0943	9	0.16896	T	0.51	.	15.0947	0.72223	1.0:0.0:0.0:0.0	.	3836	Q96DT5	DYH11_HUMAN	R	3836	ENSP00000330671:S3836R	ENSP00000330671:S3836R	S	+	1	0	DNAH11	21870789	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	5.064000	0.64338	1.965000	0.57142	0.482000	0.46254	AGT		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		C	21904264	A	C	21904264	3	2	281	1	0	0	0	0	1	0	0	0	4601	304	11	5	11785	5	DNAH11	7	21904264	Missense_Mutation	SNP	A	TCGA-B8-5164-01A-01D-1421-08		21904264	137234399	33	16873											
POM121	9883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	72413614	72413614	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr7:72413614C>G	ENST00000434423.2	+	11	3082	c.3082C>G	c.(3082-3084)Cct>Gct	p.P1028A	POM121_ENST00000446813.1_Missense_Mutation_p.P763A|POM121_ENST00000257622.4_Missense_Mutation_p.P763A|POM121_ENST00000395270.1_Missense_Mutation_p.P763A|POM121_ENST00000358357.3_Missense_Mutation_p.P763A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1028	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.P763A(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCCATCCATCCTATCTTTGG	0.632																																																2	Substitution - Missense(2)	kidney(2)											95	92	93					7																	72413614		2203	4300	6503	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3082C>G	7.37:g.72413614C>G	ENSP00000405562:p.Pro1028Ala		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37		.	.	.	.	.	.	.	.	.	.	C	11.32	1.604536	0.28623	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.11385	2.78;2.92;2.78;2.92;3.11	1.46	1.46	0.22682	.	.	.	.	.	T	0.24084	0.0583	M	0.72894	2.215	0.09310	N	1	D;D	0.76494	0.999;0.995	D;D	0.80764	0.994;0.942	T	0.13415	-1.0510	9	0.22706	T	0.39	.	5.4374	0.16488	0.0:0.8023:0.0:0.1977	.	763;1028	A8MXF9;Q96HA1	.;P121A_HUMAN	A	763;763;763;763;1028	ENSP00000393020:P763A;ENSP00000257622:P763A;ENSP00000378687:P763A;ENSP00000351124:P763A;ENSP00000405562:P1028A	ENSP00000257622:P763A	P	+	1	0	POM121	72051550	0.032000	0.19561	0.002000	0.10522	0.005000	0.04900	0.615000	0.24329	0.787000	0.33731	0.173000	0.16961	CCT		0.632	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			G	72413614	C	G	72413614	3	3	281	1	0	0	0	0	1	0	0	0	12241	855	30	4	2325	4	POM121	7	72413614	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	50509350	72413614	86725049	34	16874											
ABCB1	5243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	87175282	87175282	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr7:87175282G>C	ENST00000265724.3	-	16	2201	c.1784C>G	c.(1783-1785)gCt>gGt	p.A595G	ABCB1_ENST00000543898.1_Missense_Mutation_p.A531G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	595	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A595G(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GATGACGTCAGCATTACGAAC	0.388																																																1	Substitution - Missense(1)	kidney(1)											149	131	137					7																	87175282		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1784C>G	7.37:g.87175282G>C	ENSP00000265724:p.Ala595Gly		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069310	0.93950	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.86297	-2.1;-2.1	5.73	5.73	0.89815	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.93926	0.8056	M	0.82056	2.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.932;0.972	D	0.93874	0.7165	10	0.87932	D	0	-16.9992	20.2786	0.98501	0.0:0.0:1.0:0.0	.	531;595	B5AK60;P08183	.;MDR1_HUMAN	G	376;595;531	ENSP00000265724:A595G;ENSP00000444095:A531G	ENSP00000265724:A595G	A	-	2	0	ABCB1	87013218	1.000000	0.71417	0.997000	0.53966	0.616000	0.37450	9.781000	0.99029	2.868000	0.98415	0.557000	0.71058	GCT		0.388	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		C	87175282	G	C	87175282	3	2	281	1	0	0	0	0	1	0	0	0	40	971	34	4	2114	4	ABCB1	7	87175282	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	14761668	87175282	71963381	35	16875											
SLC26A5	375611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	103033397	103033397	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr7:103033397T>G	ENST00000306312.3	-	10	1349	c.1088A>C	c.(1087-1089)aAt>aCt	p.N363T	SLC26A5_ENST00000393723.1_Missense_Mutation_p.N363T|SLC26A5_ENST00000393730.1_Missense_Mutation_p.N363T|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N363T|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N326T|SLC26A5_ENST00000432958.2_Missense_Mutation_p.N363T|SLC26A5_ENST00000339444.6_Missense_Mutation_p.N363T|SLC26A5_ENST00000393735.2_Missense_Mutation_p.N363T|SLC26A5_ENST00000356767.4_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	363					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.N363T(3)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCCATGTTTATTTGCTAAGGT	0.468																																																3	Substitution - Missense(3)	kidney(3)											266	216	233					7																	103033397		2203	4300	6503	SO:0001583	missense	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1088A>C	7.37:g.103033397T>G	ENSP00000304783:p.Asn363Thr		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.862925	0.51482	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	5.74	3.21	0.36854	Sulphate transporter (1);	0.164301	0.53938	D	0.000053	T	0.78691	0.4323	N	0.02802	-0.49	0.80722	D	1	B;B;B;B	0.25235	0.008;0.121;0.048;0.048	B;B;B;B	0.27380	0.065;0.079;0.03;0.02	T	0.70189	-0.4940	10	0.20046	T	0.44	.	9.2638	0.37627	0.549:0.0:0.0:0.451	.	363;363;363;363	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	T	363;363;363;363;363;326;363;363	ENSP00000342396:N363T;ENSP00000377336:N363T;ENSP00000304783:N363T;ENSP00000377331:N363T;ENSP00000389733:N363T;ENSP00000377330:N326T;ENSP00000377328:N363T;ENSP00000377324:N363T	ENSP00000304783:N363T	N	-	2	0	SLC26A5	102820633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.430000	0.52807	0.973000	0.38340	0.533000	0.62120	AAT		0.468	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		G	103033397	T	G	103033397	3	3	281	1	0	0	0	0	1	0	0	0	14526	1493	52	5	1231	5	SLC26A5	7	103033397	Missense_Mutation	SNP	T	TCGA-B8-5164-01A-01D-1421-08	15858115	103033397	56105266	36	16876											
OPN1SW	611	broad.mit.edu;hgsc.bcm.edu	37	7	128413772	128413772	+	Silent	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr7:128413772G>T	ENST00000249389.2	-	4	857	c.858C>A	c.(856-858)acC>acA	p.T286T		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	286					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.T286T(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ATGAAGGAATGGTGACAAGCC	0.478																																																1	Substitution - coding silent(1)	kidney(1)											141	100	114					7																	128413772		2203	4300	6503	SO:0001819	synonymous_variant	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.858C>A	7.37:g.128413772G>T			Q13877	Silent	SNP	ENST00000249389.2	37	CCDS5806.1																																																																																				0.478	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		T	128413772	G	T	128413772	2	4	281	1	0	0	0	0	0	0	0	1	10882	1335	47	4		4	OPN1SW	7	128413772	Silent	SNP	G	TCGA-B8-5164-01A-01D-1421-08	25380375	128413772	30724891	37	16877											
RB1CC1	9821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	53554925	53554925	+	Silent	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr8:53554925G>A	ENST00000025008.5	-	18	4846	c.4323C>T	c.(4321-4323)agC>agT	p.S1441S	RB1CC1_ENST00000539297.1_Silent_p.S1441S|RB1CC1_ENST00000435644.2_Silent_p.S1441S|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1441					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.S1441S(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAGACATCATGCTTGTCTCCA	0.408																																					GBM(180;1701 2102 13475 42023 52570)											1	Substitution - coding silent(1)	kidney(1)											138	131	134					8																	53554925		2203	4300	6503	SO:0001819	synonymous_variant	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4323C>T	8.37:g.53554925G>A			Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	CCDS34892.1																																																																																				0.408	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		A	53554925	G	A	53554925	2	1	281	1	0	0	0	0	0	0	0	1	13105	1310	46	2		2	RB1CC1	8	53554925	Silent	SNP	G	TCGA-B8-5164-01A-01D-1421-08		53554925	92809097	38	16878											
NSMAF	8439	broad.mit.edu;hgsc.bcm.edu	37	8	59514096	59514096	+	Splice_Site	SNP	T	T	C	rs112233809		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr8:59514096T>C	ENST00000038176.3	-	15	1338		c.e15-2		NSMAF_ENST00000519858.1_Splice_Site|NSMAF_ENST00000427130.2_Splice_Site	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.?(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GTAGCGTGTCTAGAATACAGA	0.338																																																2	Unknown(2)	kidney(2)											36	37	37					8																	59514096		2203	4300	6503	SO:0001630	splice_region_variant	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1126-2A>G	8.37:g.59514096T>C			B4DFB0|E9PCH0|Q8IW26	Splice_Site	SNP	ENST00000038176.3	37	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304446	0.40795	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9185	0.41450	0.2621:0.0:0.0:0.7378	.	.	.	.	.	-1	.	.	.	-	.	.	NSMAF	59676650	1.000000	0.71417	0.031000	0.17742	0.063000	0.16089	7.985000	0.88162	2.174000	0.68829	0.533000	0.62120	.		0.338	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	Intron	C	59514096	T	C	59514096	5	2	281	1	0	0	0	0	0	0	1	0	10676	1536	53	3	1697	3	NSMAF	8	59514096	Splice_Site	SNP	T	TCGA-B8-5164-01A-01D-1421-08	5959171	59514096	86849926	39	16879											
DOCK8	81704	hgsc.bcm.edu;ucsc.edu	37	9	418160	418160	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr9:418160delG	ENST00000453981.1	+	30	3905	c.3793delG	c.(3793-3795)gggfs	p.G1265fs	DOCK8_ENST00000382329.1_Frame_Shift_Del_p.G732fs|DOCK8_ENST00000432829.2_Frame_Shift_Del_p.G1197fs|DOCK8_ENST00000469391.1_Frame_Shift_Del_p.G1165fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1265					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGCCATAGCAGGGAATAATTT	0.448																																																0													253	243	246					9																	418160		2203	4300	6503	SO:0001589	frameshift_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3793delG	9.37:g.418160delG	ENSP00000408464:p.Gly1265fs		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Del	DEL	ENST00000453981.1	37	CCDS6440.2																																																																																				0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		-	418160	G	-	418160	7	5	281	1	0	1	0	1	0	0	0	0	4695	1000	35	0	3911	0	DOCK8	9	418160	Frame_Shift_Del	DEL	G	TCGA-B8-5164-01A-01D-1421-08		418160	140795271	40	16880											
LINGO2	158038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	27949564	27949564	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr9:27949564C>T	ENST00000379992.2	-	6	1555	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.R369Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	369	LRRCT.					integral component of membrane (GO:0016021)		p.R369Q(4)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGGGCTGTCGCTGCAAGAT	0.547																																																4	Substitution - Missense(4)	prostate(2)|kidney(2)											40	38	38					9																	27949564		2203	4300	6503	SO:0001583	missense	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1106G>A	9.37:g.27949564C>T	ENSP00000369328:p.Arg369Gln		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651762	0.67472	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58210	0.35;0.35	6.16	6.16	0.99307	Cysteine-rich flanking region, C-terminal (1);	0.050823	0.85682	D	0.000000	T	0.67692	0.2920	L	0.47190	1.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.67103	0.949	T	0.60811	-0.7189	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	369	Q7L985	LIGO2_HUMAN	Q	369	ENSP00000369328:R369Q;ENSP00000310126:R369Q	.	R	-	2	0	LINGO2	27939564	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.694000	0.54742	2.937000	0.99478	0.650000	0.86243	CGA		0.547	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		T	27949564	C	T	27949564	3	4	281	1	0	0	0	0	1	0	0	0	8817	884	31	1	718	1	LINGO2	9	27949564	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	27531404	27949564	113263867	41	16881											
DDX58	23586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32480246	32480246	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr9:32480246A>T	ENST00000379883.2	-	12	1902	c.1745T>A	c.(1744-1746)aTt>aAt	p.I582N	DDX58_ENST00000379868.1_Missense_Mutation_p.I379N|DDX58_ENST00000379882.1_Missense_Mutation_p.I537N|DDX58_ENST00000545044.1_Missense_Mutation_p.I379N|DDX58_ENST00000542096.1_Missense_Mutation_p.I511N	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	582	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.I582N(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ATCTTGCTCAATCTCATCGAA	0.433																																																1	Substitution - Missense(1)	kidney(1)											151	133	139					9																	32480246		2203	4300	6503	SO:0001583	missense	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1745T>A	9.37:g.32480246A>T	ENSP00000369213:p.Ile582Asn		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848021	0.32699	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.67	-8.09	0.01090	.	0.460942	0.20431	N	0.092463	T	0.34106	0.0886	L	0.60455	1.87	0.19300	N	0.99997	P;P;P;P	0.50943	0.925;0.94;0.801;0.667	B;B;B;B	0.43225	0.317;0.412;0.168;0.116	T	0.42599	-0.9442	10	0.23302	T	0.38	-0.1196	16.7214	0.85410	0.8966:0.0:0.1034:0.0	.	379;537;511;582	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	N	537;582;379;511;379	ENSP00000369212:I537N;ENSP00000369213:I582N;ENSP00000369197:I379N;ENSP00000442160:I511N;ENSP00000443055:I379N	ENSP00000369197:I379N	I	-	2	0	DDX58	32470246	0.000000	0.05858	0.004000	0.12327	0.908000	0.53690	-1.318000	0.02705	-1.718000	0.01383	-1.647000	0.00761	ATT		0.433	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		T	32480246	A	T	32480246	3	4	281	1	0	0	0	0	1	0	0	0	4377	101	4	5	1060	5	DDX58	9	32480246	Missense_Mutation	SNP	A	TCGA-B8-5164-01A-01D-1421-08	4530682	32480246	108733185	42	16882											
ALDOB	229	broad.mit.edu;ucsc.edu	37	9	104192184	104192184	+	Silent	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr9:104192184G>A	ENST00000374855.4	-	3	301	c.177C>T	c.(175-177)ttC>ttT	p.F59F	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	59					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.F59F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGATTTCTCGGAACTGCCGGC	0.557																																																1	Substitution - coding silent(1)	kidney(1)											137	133	134					9																	104192184		2203	4300	6503	SO:0001819	synonymous_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.177C>T	9.37:g.104192184G>A			Q13741|Q13742|Q5T7D6	Silent	SNP	ENST00000374855.4	37	CCDS6756.1																																																																																				0.557	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			A	104192184	G	A	104192184	2	1	281	1	0	0	0	0	0	0	0	1	508	1165	41	2		2	ALDOB	9	104192184	Silent	SNP	G	TCGA-B8-5164-01A-01D-1421-08	71711938	104192184	37021247	43	16883											
SLC2A8	29988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130167742	130167742	+	Silent	SNP	A	A	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr9:130167742A>G	ENST00000373371.3	+	9	1283	c.1194A>G	c.(1192-1194)tcA>tcG	p.S398S	SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Silent_p.S135S	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	398					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)	p.S398S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TCCTCATGTCAGAGATCTTCC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											89	76	80					9																	130167742		2203	4299	6502	SO:0001819	synonymous_variant	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1194A>G	9.37:g.130167742A>G			Q8WUZ9|Q9NSC4	Silent	SNP	ENST00000373371.3	37	CCDS6870.1																																																																																				0.627	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		G	130167742	A	G	130167742	2	3	281	1	0	0	0	0	0	0	0	1	14557	175	7	3		3	SLC2A8	9	130167742	Silent	SNP	A	TCGA-B8-5164-01A-01D-1421-08	25975558	130167742	11045689	44	16884											
PRKCQ	5588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	6520965	6520965	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr10:6520965A>C	ENST00000263125.5	-	12	1441	c.1342T>G	c.(1342-1344)Ttc>Gtc	p.F448V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.F448V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.F323V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	448	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.F448V(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TTGGTCTGGAATGTACAAAAC	0.507																																					Ovarian(50;572 1126 10530 25349 30594)											1	Substitution - Missense(1)	kidney(1)											219	184	196					10																	6520965		2203	4300	6503	SO:0001583	missense	5588			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1342T>G	10.37:g.6520965A>C	ENSP00000263125:p.Phe448Val		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.12|17.12	3.307707|3.307707	0.60305|0.60305	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.66995|.	-0.24;-0.24;-0.24|.	4.76|4.76	4.76|4.76	0.60689|0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74520|0.74520	0.3727|0.3727	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;0.981;1.0|.	T|T	0.76236|0.76236	-0.3033|-0.3033	10|5	0.87932|.	D|.	0|.	.|.	14.2585|14.2585	0.66067|0.66067	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	323;220;448;448|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	V|Q	448;448;323|220	ENSP00000263125:F448V;ENSP00000380361:F448V;ENSP00000441752:F323V|.	ENSP00000263125:F448V|.	F|H	-|-	1|3	0|2	PRKCQ|PRKCQ	6560971|6560971	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.208000|0.208000	0.24298|0.24298	9.154000|9.154000	0.94694|0.94694	1.904000|1.904000	0.55121|0.55121	0.482000|0.482000	0.46254|0.46254	TTC|CAT		0.507	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		C	6520965	A	C	6520965	3	2	281	1	0	0	0	0	1	0	0	0	12520	101	4	5	806	5	PRKCQ	10	6520965	Missense_Mutation	SNP	A	TCGA-B8-5164-01A-01D-1421-08		6520965	129013782	45	16885											
HELLS	3070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96350261	96350261	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr10:96350261A>C	ENST00000348459.5	+	14	1685	c.1580A>C	c.(1579-1581)gAa>gCa	p.E527A	HELLS_ENST00000371332.4_Missense_Mutation_p.E573A|HELLS_ENST00000394045.1_Missense_Mutation_p.E429A|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific									p.E527A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTCCCTAATGAATTGGAAAAA	0.338																																																1	Substitution - Missense(1)	kidney(1)											70	71	71					10																	96350261		2203	4299	6502	SO:0001583	missense	3070			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1580A>C	10.37:g.96350261A>C	ENSP00000239027:p.Glu527Ala			Missense_Mutation	SNP	ENST00000348459.5	37	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.755224	0.49362	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332	D;D;D	0.90069	-2.48;-2.09;-2.61	5.47	5.47	0.80525	SNF2-related (1);	0.103247	0.64402	D	0.000005	D	0.82986	0.5156	L	0.33245	0.995	0.80722	D	1	B;B;P;B;B	0.34864	0.061;0.074;0.473;0.035;0.202	B;B;B;B;B	0.35182	0.043;0.08;0.135;0.027;0.197	T	0.80632	-0.1296	10	0.23891	T	0.37	-22.2888	13.2905	0.60269	1.0:0.0:0.0:0.0	.	511;527;397;429;527	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	A	527;429;573	ENSP00000239027:E527A;ENSP00000377609:E429A;ENSP00000360383:E573A	ENSP00000239027:E527A	E	+	2	0	HELLS	96340251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.195000	0.58400	2.065000	0.61736	0.528000	0.53228	GAA		0.338	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		C	96350261	A	C	96350261	3	2	281	1	0	0	0	0	1	0	0	0	7048	246	9	5	1634	5	HELLS	10	96350261	Missense_Mutation	SNP	A	TCGA-B8-5164-01A-01D-1421-08	89829296	96350261	39184486	46	16886											
C10orf137	26098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	127426983	127426983	+	Silent	SNP	A	A	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr10:127426983A>T	ENST00000356792.4	+	15	2182	c.1950A>T	c.(1948-1950)ctA>ctT	p.L650L	C10orf137_ENST00000337623.3_Silent_p.L616L	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		650					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L616L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCGAGGGGCTAGAGAAGCAGA	0.443																																																1	Substitution - coding silent(1)	kidney(1)											59	66	64					10																	127426983		2203	4300	6503	SO:0001819	synonymous_variant	26098																														ENST00000356792.4:c.1950A>T	10.37:g.127426983A>T			B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	CCDS55733.1																																																																																				0.443	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			T	127426983	A	T	127426983	2	4	281	1	0	0	0	0	0	0	0	1	1596	407	15	5		5	C10orf137	10	127426983	Silent	SNP	A	TCGA-B8-5164-01A-01D-1421-08	31076722	127426983	8107764	47	16887											
FOXI2	399823	broad.mit.edu;ucsc.edu	37	10	129536797	129536797	+	Silent	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr10:129536797C>T	ENST00000388920.4	+	2	564	c.525C>T	c.(523-525)taC>taT	p.Y175Y		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	175					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y175Y(1)		large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				AAGGCAATTACTGGACCCTGG	0.567																																					Esophageal Squamous(54;1038 1280 2528 31583)											1	Substitution - coding silent(1)	kidney(1)											40	41	40					10																	129536797		2202	4300	6502	SO:0001819	synonymous_variant	399823			AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"Forkhead boxes"	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.525C>T	10.37:g.129536797C>T				Silent	SNP	ENST00000388920.4	37	CCDS7655.2																																																																																				0.567	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	NM_207426		T	129536797	C	T	129536797	2	4	281	1	0	0	0	0	0	0	0	1	6012	576	20	2		2	FOXI2	10	129536797	Silent	SNP	C	TCGA-B8-5164-01A-01D-1421-08	2109814	129536797	5997950	48	16888											
CHID1	66005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	869878	869878	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr11:869878A>T	ENST00000449825.1	-	13	1518	c.1162T>A	c.(1162-1164)Tac>Aac	p.Y388N	CHID1_ENST00000436108.2_Missense_Mutation_p.Y388N|CHID1_ENST00000336845.5_Missense_Mutation_p.Y413N|CHID1_ENST00000454838.2_Missense_Mutation_p.Y413N|CHID1_ENST00000323541.7_Missense_Mutation_p.Y418N|CHID1_ENST00000528581.1_Missense_Mutation_p.Y413N|CHID1_ENST00000429789.2_Missense_Mutation_p.Y357N|CHID1_ENST00000323578.8_Missense_Mutation_p.Y388N|CHID1_ENST00000526714.1_5'Flank	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	388					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)	p.Y388N(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TCGTAGAAGTAGTCCAGGCCC	0.622																																					Pancreas(117;992 2327 5172 41921)											1	Substitution - Missense(1)	kidney(1)											81	86	84					11																	869878		2203	4298	6501	SO:0001583	missense	66005			AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.1162T>A	11.37:g.869878A>T	ENSP00000391255:p.Tyr388Asn		B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	CCDS7722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.426208|4.426208	0.83667|0.83667	.|.	.|.	ENSG00000177830|ENSG00000177830	ENST00000529539|ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108	.|T;T;T;T;T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.45|4.45	4.45|4.45	0.53987|0.53987	.|Glycoside hydrolase, superfamily (1);	.|0.134095	.|0.51477	.|D	.|0.000084	T|T	0.57562|0.57562	0.2062|0.2062	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.999;0.989;0.999;0.999	T|T	0.60801|0.60801	-0.7191|-0.7191	5|10	.|0.35671	.|T	.|0.21	-27.5368|-27.5368	10.1129|10.1129	0.42574|0.42574	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|449;418;357;413;388	.|B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.|.;.;.;.;CHID1_HUMAN	Q|N	102|418;388;413;388;357;413;413;388	.|ENSP00000324821:Y418N;ENSP00000391255:Y388N;ENSP00000398722:Y413N;ENSP00000325055:Y388N;ENSP00000416034:Y357N;ENSP00000435503:Y413N;ENSP00000338838:Y413N;ENSP00000388156:Y388N	.|ENSP00000324821:Y418N	L|Y	-|-	2|1	0|0	CHID1|CHID1	859878|859878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	6.511000|6.511000	0.73733|0.73733	1.643000|1.643000	0.50594|0.50594	0.379000|0.379000	0.24179|0.24179	CTA|TAC		0.622	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		T	869878	A	T	869878	3	4	281	1	0	0	0	0	1	0	0	0	3347	420	15	5	23	5	CHID1	11	869878	Missense_Mutation	SNP	A	TCGA-B8-5164-01A-01D-1421-08		869878	134136638	49	16889											
VWF	7450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6204658	6204658	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr12:6204658A>T	ENST00000261405.5	-	6	879	c.625T>A	c.(625-627)Tca>Aca	p.S209T	RN7SL69P_ENST00000468423.2_RNA|VWF_ENST00000572068.1_Missense_Mutation_p.S246T	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	209	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.S209T(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATGTTGCATGAGCTGCTGGGA	0.547																																																1	Substitution - Missense(1)	kidney(1)											157	146	150					12																	6204658		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.625T>A	12.37:g.6204658A>T	ENSP00000261405:p.Ser209Thr		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	A	3.975	-0.007627	0.07773	.	.	ENSG00000110799	ENST00000261405	T	0.35973	1.28	4.85	-8.44	0.00950	von Willebrand factor, type D domain (1);	1.182460	0.06473	N	0.731462	T	0.13114	0.0318	N	0.13140	0.3	0.09310	N	1	B;B;B	0.14438	0.001;0.008;0.01	B;B;B	0.13407	0.004;0.002;0.009	T	0.22173	-1.0224	10	0.11485	T	0.65	.	1.8483	0.03163	0.4685:0.0965:0.1446:0.2905	.	209;246;209	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	T	209	ENSP00000261405:S209T	ENSP00000261405:S209T	S	-	1	0	VWF	6074919	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.084000	0.11268	-1.250000	0.02497	-0.464000	0.05259	TCA		0.547	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6204658	A	T	6204658	3	4	281	1	0	0	0	0	1	0	0	0	17251	304	11	5	8004	5	VWF	12	6204658	Missense_Mutation	SNP	A	TCGA-B8-5164-01A-01D-1421-08		6204658	127647237	50	16890											
RND1	27289	broad.mit.edu	37	12	49259538	49259538	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr12:49259538G>C	ENST00000309739.5	-	1	143	c.13C>G	c.(13-15)Cgg>Ggg	p.R5G		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	5					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)	p.R5G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TGGGGGGCCCGTCTCTCCTTC	0.587																																																1	Substitution - Missense(1)	kidney(1)											78	65	70					12																	49259538		2203	4300	6503	SO:0001583	missense	27289			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"ras homolog gene family, member S"	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.13C>G	12.37:g.49259538G>C	ENSP00000308461:p.Arg5Gly		A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	37	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613697	0.66672	.	.	ENSG00000172602	ENST00000309739	T	0.38887	1.11	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	N	0.08118	0	0.54753	D	0.999986	D	0.60160	0.987	D	0.65010	0.931	T	0.48222	-0.9054	10	0.87932	D	0	-0.3085	12.7694	0.57412	0.0:0.0:0.8358:0.1641	.	5	Q92730	RND1_HUMAN	G	5	ENSP00000308461:R5G	ENSP00000308461:R5G	R	-	1	2	RND1	47545805	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.983000	0.40648	2.800000	0.96347	0.650000	0.86243	CGG		0.587	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470		C	49259538	G	C	49259538	3	2	281	1	0	0	0	0	1	0	0	0	13425	1144	40	4	705	4	RND1	12	49259538	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	43054880	49259538	84592357	51	16891											
LIMA1	51474	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50571732	50571732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr12:50571732C>T	ENST00000341247.4	-	11	1544	c.1395G>A	c.(1393-1395)tgG>tgA	p.W465*	LIMA1_ENST00000552491.1_Nonsense_Mutation_p.W162*|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.W305*|LIMA1_ENST00000547825.1_Nonsense_Mutation_p.W163*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.W304*|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.W466*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.W306*	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	465					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.W465*(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTTTGCTTGCCCATAGATCCT	0.458																																																1	Substitution - Nonsense(1)	kidney(1)											176	174	175					12																	50571732		2203	4300	6503	SO:0001587	stop_gained	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1395G>A	12.37:g.50571732C>T	ENSP00000340184:p.Trp465*		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Nonsense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	36	5.957044	0.97145	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3435	19.8097	0.96542	0.0:1.0:0.0:0.0	.	.	.	.	X	162;163;305;466;465;306;304;384	.	ENSP00000340184:W465X	W	-	3	0	LIMA1	48857999	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.745000	0.94114	0.650000	0.86243	TGG		0.458	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		T	50571732	C	T	50571732	4	4	281	1	0	0	0	0	0	1	0	0	8798	624	22	2	888	2	LIMA1	12	50571732	Nonsense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	1312194	50571732	83280163	52	16892											
KRT2	3849	hgsc.bcm.edu	37	12	53045840	53045840	+	Silent	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr12:53045840C>A	ENST00000309680.3	-	1	108	c.87G>T	c.(85-87)gtG>gtT	p.V29V		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	29	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTCCACCAGACACCACAGCTG	0.597																																																0													34	37	36					12																	53045840		2203	4300	6503	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.87G>T	12.37:g.53045840C>A			Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																				0.597	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		A	53045840	C	A	53045840	2	1	281	1	0	0	0	0	0	0	0	1	8459	465	17	4		4	KRT2	12	53045840	Silent	SNP	C	TCGA-B8-5164-01A-01D-1421-08	2474108	53045840	80806055	53	16893											
GEFT	115557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58004440	58004440	+	5'Flank	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr12:58004440G>T	ENST00000286494.4	+	0	0				AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.E63*	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25							cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E63*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TCGCGAACATGAGGTCCTCGC	0.587																																																1	Substitution - Nonsense(1)	kidney(1)											55	59	58					12																	58004440		1568	3582	5150	SO:0001631	upstream_gene_variant	115557				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516		12.37:g.58004440G>T	Exception_encountered		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Nonsense_Mutation	SNP	ENST00000286494.4	37	CCDS8947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.00|13.00	2.105853|2.105853	0.37145|0.37145	.|.	.|.	ENSG00000240771|ENSG00000240771	ENST00000333972|ENST00000300189	.|.	.|.	.|.	2.97|2.97	2.97|2.97	0.34412|0.34412	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46405	.|0.1391	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.49969	.|-0.8882	.|7	0.22706|0.59425	T|D	0.39|0.04	.|.	9.5683|9.5683	0.39411|0.39411	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1	.|Q96M35	.|.	X|I	63|1	.|.	ENSP00000335560:E63X|ENSP00000300189:M1I	E|M	+|+	1|3	0|0	ARHGEF25|ARHGEF25	56290707|56290707	0.968000|0.968000	0.33430|0.33430	0.703000|0.703000	0.30354|0.30354	0.140000|0.140000	0.21249|0.21249	4.296000|4.296000	0.59055|0.59055	1.681000|1.681000	0.50988|0.50988	0.305000|0.305000	0.20034|0.20034	GAG|ATG		0.587	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		T	58004440	G	T	58004440	1	4	281	0	1	0	0	0	0	0	0	0	6330	1291	45	4		4	GEFT	12	58004440	5'Flank	SNP	G	TCGA-B8-5164-01A-01D-1421-08	4958600	58004440	75847455	54	16894											
POMP	51371	broad.mit.edu;hgsc.bcm.edu	37	13	29238707	29238707	+	Splice_Site	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr13:29238707G>T	ENST00000380842.4	+	3	243		c.e3+1		POMP_ENST00000460403.1_Splice_Site	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein						proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.?(1)		endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		AGAAAAAAATGTAAGTATATT	0.244																																																1	Unknown(1)	kidney(1)											29	32	31					13																	29238707		2192	4281	6473	SO:0001630	splice_region_variant	51371			AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"proteassemblin"	613386	"chromosome 13 open reading frame 12"	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.162+1G>T	13.37:g.29238707G>T			A5HKJ2|D6MXU3|Q9HB69	Splice_Site	SNP	ENST00000380842.4	37	CCDS9331.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058821	0.76074	.	.	ENSG00000132963	ENST00000380842	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1187	0.86696	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POMP	28136707	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.006000	0.88564	2.776000	0.95493	0.655000	0.94253	.		0.244	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1	NM_015932	Intron	T	29238707	G	T	29238707	5	4	281	1	0	0	0	0	0	0	1	0	12246	1391	48	4	173	4	POMP	13	29238707	Splice_Site	SNP	G	TCGA-B8-5164-01A-01D-1421-08		29238707	85931171	55	16895											
DZIP1	22873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	96238362	96238362	+	Silent	SNP	T	T	C	rs181395665		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr13:96238362T>C	ENST00000376829.2	-	21	3098	c.2247A>G	c.(2245-2247)aaA>aaG	p.K749K	DZIP1_ENST00000361396.2_Silent_p.K730K|DZIP1_ENST00000347108.3_Silent_p.K749K|DZIP1_ENST00000361156.3_Silent_p.K730K	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	749					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K730K(1)|p.K749K(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCTTTTCAACTTTTTCAGTAG	0.308													T|||	1	0.000199681	0.0	0.0	5008	,	,		17651	0.001		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)											127	122	123					13																	96238362		2202	4300	6502	SO:0001819	synonymous_variant	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2247A>G	13.37:g.96238362T>C			Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	CCDS9478.1																																																																																				0.308	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		C	96238362	T	C	96238362	2	2	281	1	0	0	0	0	0	0	0	1	4865	1606	56	3		3	DZIP1	13	96238362	Silent	SNP	T	TCGA-B8-5164-01A-01D-1421-08	66999655	96238362	18931516	56	16896											
C15orf55	256646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	34647722	34647722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr15:34647722G>T	ENST00000333756.4	+	7	1584	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	NUTM1_ENST00000537011.1_Nonsense_Mutation_p.E505*|NUTM1_ENST00000438749.3_Nonsense_Mutation_p.E495*	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	477						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E477*(1)									CTTGGAAGAGGAGGAAGATGC	0.532																																																1	Substitution - Nonsense(1)	kidney(1)											82	87	85					15																	34647722		2201	4298	6499	SO:0001587	stop_gained	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1429G>T	15.37:g.34647722G>T	ENSP00000329448:p.Glu477*		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Nonsense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	39	7.351681	0.98231	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	.	.	.	4.68	4.68	0.58851	.	0.106621	0.41500	D	0.000862	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	13.0788	0.59100	0.0:0.0:1.0:0.0	.	.	.	.	X	505;495;346;477	.	ENSP00000329448:E477X	E	+	1	0	C15orf55	32435014	1.000000	0.71417	0.997000	0.53966	0.353000	0.29299	1.006000	0.29847	2.165000	0.68154	0.655000	0.94253	GAG		0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		T	34647722	G	T	34647722	4	4	281	1	0	0	0	0	0	1	0	0	1805	1175	41	4	1455	4	C15orf55	15	34647722	Nonsense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08		34647722	67883670	57	16897											
DAPK2	23604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	64218210	64218210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr15:64218210C>A	ENST00000457488.1	-	8	772	c.742G>T	c.(742-744)Gag>Tag	p.E248*	DAPK2_ENST00000261891.3_Nonsense_Mutation_p.E248*|RP11-111E14.1_ENST00000558050.1_RNA|DAPK2_ENST00000558069.1_Nonsense_Mutation_p.E248*	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)	p.E248*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AAGAATTCCTCATCAAAGTCG	0.502																																																1	Substitution - Nonsense(1)	kidney(1)											143	132	136					15																	64218210		2203	4300	6503	SO:0001587	stop_gained	23604			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.742G>T	15.37:g.64218210C>A	ENSP00000408277:p.Glu248*		E9JGM7|O75892|Q24JS1	Nonsense_Mutation	SNP	ENST00000457488.1	37	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	C	38	7.021680	0.98010	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5507	0.91063	0.0:1.0:0.0:0.0	.	.	.	.	X	248	.	ENSP00000261891:E248X	E	-	1	0	DAPK2	62005263	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.818000	0.86416	2.620000	0.88729	0.563000	0.77884	GAG		0.502	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326		A	64218210	C	A	64218210	4	1	281	1	0	0	0	0	0	1	0	0	4238	835	29	4	390	4	DAPK2	15	64218210	Nonsense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	29570488	64218210	38313182	58	16898											
CYP1A2	1544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75042368	75042368	+	Missense_Mutation	SNP	G	G	A	rs545726003		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr15:75042368G>A	ENST00000343932.4	+	2	352	c.289G>A	c.(289-291)Gcc>Acc	p.A97T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	97					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.A97T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CATCCGGCAGGCCCTGGTGCG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18260	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											46	42	44					15																	75042368		2197	4294	6491	SO:0001583	missense	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.289G>A	15.37:g.75042368G>A	ENSP00000342007:p.Ala97Thr		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577878	0.96565	.	.	ENSG00000140505	ENST00000343932	T	0.70749	-0.51	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94714	0.7895	10	0.87932	D	0	.	18.1026	0.89510	0.0:0.0:1.0:0.0	.	97	P05177-2	.	T	97	ENSP00000342007:A97T	ENSP00000342007:A97T	A	+	1	0	CYP1A2	72829421	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.325000	0.96381	2.499000	0.84300	0.561000	0.74099	GCC		0.647	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		A	75042368	G	A	75042368	3	1	281	1	0	0	0	0	1	0	0	0	4152	1203	42	2	291	2	CYP1A2	15	75042368	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	10824158	75042368	27489024	59	16899											
CHD2	1106	hgsc.bcm.edu	37	15	93545457	93545457	+	Silent	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr15:93545457G>A	ENST00000394196.4	+	33	5256	c.4188G>A	c.(4186-4188)gaG>gaA	p.E1396E	CHD2_ENST00000557381.1_Silent_p.E1396E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1396					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			agaagaaagagaacaaggaga	0.343																																																0													113	116	115					15																	93545457		2197	4298	6495	SO:0001819	synonymous_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4188G>A	15.37:g.93545457G>A			C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	CCDS10374.2																																																																																				0.343	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		A	93545457	G	A	93545457	2	1	281	1	0	0	0	0	0	0	0	1	3327	933	33	2		2	CHD2	15	93545457	Silent	SNP	G	TCGA-B8-5164-01A-01D-1421-08	18503089	93545457	8985935	60	16900											
ANKS3	124401	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4780097	4780097	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr16:4780097C>A	ENST00000304283.4	-	3	348	c.54G>T	c.(52-54)ttG>ttT	p.L18F	ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000592711.1_Missense_Mutation_p.L18F|ANKS3_ENST00000585773.1_Intron|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000446014.2_5'UTR	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	18								p.L18F(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCCACATGGACAAGCTGCGGT	0.587																																																1	Substitution - Missense(1)	kidney(1)											82	69	73					16																	4780097		2197	4300	6497	SO:0001583	missense	124401			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.54G>T	16.37:g.4780097C>A	ENSP00000304586:p.Leu18Phe		B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753375	0.69648	.	.	ENSG00000168096	ENST00000304283	T	0.45668	0.89	5.82	2.51	0.30379	.	0.000000	0.64402	D	0.000001	T	0.46386	0.1390	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43114	-0.9411	10	0.87932	D	0	-4.783	6.4426	0.21859	0.1331:0.6004:0.0:0.2666	.	18	Q6ZW76	ANKS3_HUMAN	F	18	ENSP00000304586:L18F	ENSP00000304586:L18F	L	-	3	2	ANKS3	4720098	0.969000	0.33509	0.996000	0.52242	0.957000	0.61999	0.142000	0.16096	0.813000	0.34350	-0.291000	0.09656	TTG		0.587	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		A	4780097	C	A	4780097	3	1	281	1	0	0	0	0	1	0	0	0	690	477	17	4	1976	4	ANKS3	16	4780097	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08		4780097	85574656	61	16901											
KIAA0430	9665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15711240	15711240	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr16:15711240G>C	ENST00000396368.3	-	14	3079	c.2873C>G	c.(2872-2874)tCc>tGc	p.S958C	KIAA0430_ENST00000540441.2_Missense_Mutation_p.S793C|KIAA0430_ENST00000548025.1_Missense_Mutation_p.S955C|KIAA0430_ENST00000344181.3_Missense_Mutation_p.S600C|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S955C|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S958C	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	958					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S958C(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GCAATTCGTGGAGGAGCCGTC	0.527																																																1	Substitution - Missense(1)	kidney(1)											57	59	59					16																	15711240		1884	4102	5986	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2873C>G	16.37:g.15711240G>C	ENSP00000379654:p.Ser958Cys		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315488	0.81358	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	L	0.50333	1.59	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.995	T	0.77135	-0.2699	9	0.62326	D	0.03	.	19.3392	0.94335	0.0:0.0:1.0:0.0	.	957;955;954;957	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	C	958;793;957;600;955;958;778	.	ENSP00000315718:S957C	S	-	2	0	KIAA0430	15618741	1.000000	0.71417	0.960000	0.40013	0.995000	0.86356	9.143000	0.94623	2.568000	0.86640	0.561000	0.74099	TCC		0.527	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		C	15711240	G	C	15711240	3	2	281	1	0	0	0	0	1	0	0	0	8179	1174	41	4	2411	4	KIAA0430	16	15711240	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	10931143	15711240	74643513	62	16902											
SETD1A	9739	broad.mit.edu;hgsc.bcm.edu	37	16	30990969	30990969	+	Missense_Mutation	SNP	C	C	A	rs147948503	byFrequency	TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr16:30990969C>A	ENST00000262519.8	+	14	4548	c.3862C>A	c.(3862-3864)Cgc>Agc	p.R1288S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1288					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R1288S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGAGGCCGAGCGCCCTAGGCC	0.716																																																1	Substitution - Missense(1)	kidney(1)											17	22	20					16																	30990969		2188	4270	6458	SO:0001583	missense	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3862C>A	16.37:g.30990969C>A	ENSP00000262519:p.Arg1288Ser		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	5.773	0.327062	0.10900	.	.	ENSG00000099381	ENST00000262519	D	0.94184	-3.37	4.96	3.94	0.45596	.	0.306242	0.30901	N	0.008652	D	0.85843	0.5791	L	0.27053	0.805	0.31274	N	0.691424	B	0.28350	0.208	B	0.26094	0.066	T	0.82912	-0.0222	10	0.52906	T	0.07	.	5.5367	0.17016	0.1985:0.7015:0.0:0.1	.	1288	O15047	SET1A_HUMAN	S	1288	ENSP00000262519:R1288S	ENSP00000262519:R1288S	R	+	1	0	SETD1A	30898470	0.003000	0.15002	0.247000	0.24249	0.019000	0.09904	-0.124000	0.10595	2.292000	0.77174	0.563000	0.77884	CGC		0.716	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		A	30990969	C	A	30990969	3	1	281	1	0	0	0	0	1	0	0	0	14136	768	27	4	3912	4	SETD1A	16	30990969	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	15279729	30990969	59363784	63	16903											
ITGAD	3681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31435255	31435255	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr16:31435255T>G	ENST00000389202.2	+	27	3184	c.3135T>G	c.(3133-3135)aaT>aaG	p.N1045K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1045					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.N1045K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAAGGGCAATCTCAGTTTCG	0.637																																																1	Substitution - Missense(1)	kidney(1)											58	48	51					16																	31435255		2197	4300	6497	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3135T>G	16.37:g.31435255T>G	ENSP00000373854:p.Asn1045Lys		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597949	0.46318	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.53640	0.61	4.89	3.94	0.45596	.	.	.	.	.	T	0.39306	0.1073	M	0.64997	1.995	0.36994	D	0.894926	P;P	0.40332	0.713;0.571	B;B	0.31442	0.13;0.13	T	0.49818	-0.8899	9	0.52906	T	0.07	.	9.139	0.36892	0.0:0.8975:0.0:0.1025	.	1061;1045	Q59H14;Q13349	.;ITAD_HUMAN	K	1061;1045	ENSP00000373854:N1045K	ENSP00000373854:N1045K	N	+	3	2	ITGAD	31342756	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	0.775000	0.26689	1.051000	0.40369	-0.230000	0.12252	AAT		0.637	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		G	31435255	T	G	31435255	3	3	281	1	0	0	0	0	1	0	0	0	7886	1432	50	5	3241	5	ITGAD	16	31435255	Missense_Mutation	SNP	T	TCGA-B8-5164-01A-01D-1421-08	444286	31435255	58919498	64	16904											
PRSS54	221191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58314590	58314590	+	Silent	SNP	G	G	A	rs368704231		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr16:58314590G>A	ENST00000219301.4	-	7	1120	c.726C>T	c.(724-726)aaC>aaT	p.N242N	PRSS54_ENST00000567164.1_Silent_p.N242N|PRSS54_ENST00000543437.1_Silent_p.N143N|CCDC113_ENST00000219299.4_3'UTR|CCDC113_ENST00000443128.2_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	242	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.N242N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACCACCGAAGTTCAGGACTC	0.552																																																1	Substitution - coding silent(1)	kidney(1)						G	,,	0,4396		0,0,2198	66	63	64		726,,	-2.4	0	16		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,utr-3	CCDC113,PRSS54	NM_001080492.1,NM_001142302.1,NM_014157.3	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	242/396,,	58314590	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	221191			AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"Serine peptidases / Serine peptidases"	26336	protein-coding gene	gene with protein product	"cancer/testis antigen 67"					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.726C>T	16.37:g.58314590G>A			Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	CCDS32463.1																																																																																				0.552	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		A	58314590	G	A	58314590	2	1	281	1	0	0	0	0	0	0	0	1	12638	1020	36	2		2	PRSS54	16	58314590	Silent	SNP	G	TCGA-B8-5164-01A-01D-1421-08	26879335	58314590	32040163	65	16905											
ATP2A3	489	broad.mit.edu;hgsc.bcm.edu	37	17	3851044	3851044	+	Silent	SNP	G	G	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:3851044G>T	ENST00000352011.3	-	8	790	c.736C>A	c.(736-738)Cgg>Agg	p.R246R	ATP2A3_ENST00000359983.3_Silent_p.R246R|ATP2A3_ENST00000397035.3_Silent_p.R246R|ATP2A3_ENST00000397041.3_Silent_p.R246R|ATP2A3_ENST00000309890.7_Silent_p.R246R|ATP2A3_ENST00000397043.3_Silent_p.R246R|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	246					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R246R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGCGGCGTCCGCTCGGGCTCG	0.652																																					GBM(32;29 774 15719 37967)											1	Substitution - coding silent(1)	kidney(1)											27	29	28					17																	3851044		2197	4276	6473	SO:0001819	synonymous_variant	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.736C>A	17.37:g.3851044G>T			A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																				0.652	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		T	3851044	G	T	3851044	2	4	281	1	0	0	0	0	0	0	0	1	1138	1086	38	4		4	ATP2A3	17	3851044	Silent	SNP	G	TCGA-B8-5164-01A-01D-1421-08		3851044	77344166	66	16906											
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7661862	7661862	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:7661862A>T	ENST00000572933.1	+	14	3561	c.2101A>T	c.(2101-2103)Att>Ttt	p.I701F	DNAH2_ENST00000389173.2_Missense_Mutation_p.I701F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	701	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I701F(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAAAGAGCGTATTCGGCTCCT	0.537																																																1	Substitution - Missense(1)	kidney(1)											127	125	126					17																	7661862		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2101A>T	17.37:g.7661862A>T	ENSP00000458355:p.Ile701Phe		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.006127	0.93287	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57907	0.37	5.91	5.91	0.95273	Dynein heavy chain, domain-1 (1);	0.057497	0.64402	D	0.000002	T	0.75459	0.3852	M	0.86028	2.79	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.79642	-0.1718	10	0.72032	D	0.01	.	15.3298	0.74200	1.0:0.0:0.0:0.0	.	701	Q9P225	DYH2_HUMAN	F	701	ENSP00000373825:I701F	ENSP00000353818:I701F	I	+	1	0	DNAH2	7602587	1.000000	0.71417	0.866000	0.34008	0.921000	0.55340	8.207000	0.89746	2.266000	0.75297	0.454000	0.30748	ATT		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7661862	A	T	7661862	3	4	281	1	0	0	0	0	1	0	0	0	4604	449	16	5	2151	5	DNAH2	17	7661862	Missense_Mutation	SNP	A	TCGA-B8-5164-01A-01D-1421-08	3810818	7661862	73533348	67	16907											
EPN2	22905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	19186485	19186485	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:19186485C>T	ENST00000314728.5	+	3	537	c.53C>T	c.(52-54)tCa>tTa	p.S18L	EPN2_ENST00000347697.2_Missense_Mutation_p.S18L|EPN2_ENST00000395620.2_Missense_Mutation_p.S18L|EPN2_ENST00000395626.1_Missense_Mutation_p.S18L|EPN2_ENST00000571254.1_Missense_Mutation_p.S18L|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395618.3_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	18	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.S18L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AACAATTACTCAGAGGCAGAA	0.463																																																1	Substitution - Missense(1)	kidney(1)											70	75	73					17																	19186485		2203	4300	6503	SO:0001583	missense	22905			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.53C>T	17.37:g.19186485C>T	ENSP00000320543:p.Ser18Leu		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	35	5.470715	0.96274	.	.	ENSG00000072134	ENST00000347697;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.77	5.77	0.91146	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.111338	0.64402	D	0.000005	T	0.80444	0.4624	H	0.96048	3.76	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.968;0.996;0.999;1.0;0.994	D	0.86047	0.1523	10	0.87932	D	0	-16.7255	19.9873	0.97353	0.0:1.0:0.0:0.0	.	18;18;18;18;18;18	Q52LD0;B7ZKM5;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	L	18	ENSP00000261495:S18L;ENSP00000320543:S18L;ENSP00000378990:S18L;ENSP00000378982:S18L;ENSP00000378988:S18L	ENSP00000320543:S18L	S	+	2	0	EPN2	19127078	1.000000	0.71417	0.975000	0.42487	0.959000	0.62525	7.770000	0.85390	2.732000	0.93576	0.655000	0.94253	TCA		0.463	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		T	19186485	C	T	19186485	3	4	281	1	0	0	0	0	1	0	0	0	5188	838	29	2	55	2	EPN2	17	19186485	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	11524623	19186485	62008725	68	16908											
MMP28	146853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34093555	34093555	+	IGR	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:34093555G>A	ENST00000285023.4	+	0	1018					NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50									p.G508G(1)					Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATGCCAGCAGCCCATCCAGG	0.637																																																1	Substitution - coding silent(1)	kidney(1)											16	17	17					17																	34093555		1935	4094	6029	SO:0001628	intergenic_variant	79148			BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389		17.37:g.34093555G>A			Q6Q621	Missense_Mutation	SNP	ENST00000285023.4	37	CCDS42298.1																																																																																				0.637	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449132.1	NM_145272		A	34093555	G	A	34093555	1	1	281	0	1	0	0	0	0	0	0	0	9667	958	34	2		2	MMP28	17	34093555	IGR	SNP	G	TCGA-B8-5164-01A-01D-1421-08	14907070	34093555	47101655	69	16909											
CCDC40	55036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78013722	78013722	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:78013722G>C	ENST00000397545.4	+	3	232	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L	CCDC40_ENST00000269318.5_Missense_Mutation_p.V69L|CCDC40_ENST00000374876.4_Missense_Mutation_p.V69L|CCDC40_ENST00000374877.3_Missense_Mutation_p.V69L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	69					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.V69L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			Agagggggaggtggagacaga	0.507																																																2	Substitution - Missense(2)	kidney(2)											55	59	58					17																	78013722		2016	4177	6193	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.205G>C	17.37:g.78013722G>C	ENSP00000380679:p.Val69Leu		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	5.928	0.355194	0.11239	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84589	0.79;-1.87;0.79;0.83	3.16	-2.49	0.06403	.	.	.	.	.	T	0.65995	0.2745	N	0.19112	0.55	0.09310	N	1	B;B	0.28850	0.225;0.028	B;B	0.26969	0.075;0.006	T	0.53121	-0.8483	9	0.23891	T	0.37	.	0.4191	0.00453	0.3439:0.1833:0.2867:0.1862	.	69;69	Q4G0X9-5;Q4G0X9	.;CCD40_HUMAN	L	69	ENSP00000364011:V69L;ENSP00000269318:V69L;ENSP00000364010:V69L;ENSP00000380679:V69L	ENSP00000269318:V69L	V	+	1	0	CCDC40	75628317	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	-0.469000	0.06911	-0.428000	0.05917	GTG		0.507	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		C	78013722	G	C	78013722	3	2	281	1	0	0	0	0	1	0	0	0	2814	1261	44	4	215	4	CCDC40	17	78013722	Missense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	43920167	78013722	3181488	70	16910											
SIRT7	51547	broad.mit.edu	37	17	79875994	79875994	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr17:79875994C>T	ENST00000328666.6	-	1	76	c.14G>A	c.(13-15)gGt>gAt	p.G5D		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	5					histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)	p.G5D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCGGCTCAGACCCCCGGCTGC	0.751																																																1	Substitution - Missense(1)	kidney(1)											11	14	13					17																	79875994		1681	3531	5212	SO:0001583	missense	51547			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7", "sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.14G>A	17.37:g.79875994C>T	ENSP00000329466:p.Gly5Asp		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	37	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407407	0.62399	.	.	ENSG00000187531	ENST00000328666	T	0.30981	1.51	3.58	2.59	0.31030	.	0.327108	0.27323	N	0.019889	T	0.17704	0.0425	N	0.22421	0.69	0.80722	D	1	B	0.28026	0.198	B	0.22386	0.039	T	0.05767	-1.0865	10	0.16896	T	0.51	-9.1852	11.4114	0.49927	0.1813:0.8187:0.0:0.0	.	5	Q9NRC8	SIRT7_HUMAN	D	5	ENSP00000329466:G5D	ENSP00000329466:G5D	G	-	2	0	SIRT7	77469286	0.952000	0.32445	0.976000	0.42696	0.535000	0.34838	1.531000	0.36018	0.691000	0.31592	0.430000	0.28490	GGT		0.751	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		T	79875994	C	T	79875994	3	4	281	1	0	0	0	0	1	0	0	0	14349	507	18	2	1228	2	SIRT7	17	79875994	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	1862272	79875994	1319216	71	16911											
ARHGAP28	79822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	6870684	6870684	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr18:6870684A>C	ENST00000383472.4	+	7	1011	c.907A>C	c.(907-909)Aat>Cat	p.N303H	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.N144H|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.N144H|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.N144H|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.N139H|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.N303H|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.N251H|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.N126H			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	303					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.N144H(1)|p.N303H(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TCTAAAAAGAAATAAACTTAA	0.348																																																2	Substitution - Missense(2)	kidney(2)											69	80	76					18																	6870684		2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.907A>C	18.37:g.6870684A>C	ENSP00000372964:p.Asn303His		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	A	13.96	2.392948	0.42410	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08102	3.28;3.23;3.2;3.2;3.2;3.13	5.22	-0.498	0.12019	.	0.717151	0.14447	N	0.319022	T	0.11196	0.0273	L	0.40543	1.245	0.09310	N	1	P;P;P;P	0.47841	0.694;0.901;0.88;0.574	B;P;P;P	0.46110	0.126;0.497;0.504;0.504	T	0.17531	-1.0366	10	0.66056	D	0.02	.	16.2644	0.82568	0.3954:0.6046:0.0:0.0	.	303;135;144;251	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	H	303;251;144;139;144;144;135;126	ENSP00000382963:N303H;ENSP00000262227:N251H;ENSP00000392660:N144H;ENSP00000437262:N139H;ENSP00000313506:N144H;ENSP00000406907:N144H	ENSP00000262227:N251H	N	+	1	0	ARHGAP28	6860684	0.980000	0.34600	0.424000	0.26647	0.967000	0.64934	1.458000	0.35223	-0.226000	0.09899	-1.243000	0.01532	AAT		0.348	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		C	6870684	A	C	6870684	3	2	281	1	0	0	0	0	1	0	0	0	877	14	1	5	448	5	ARHGAP28	18	6870684	Missense_Mutation	SNP	A	TCGA-B8-5164-01A-01D-1421-08		6870684	71206564	72	16912											
SLC39A6	25800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33694147	33694147	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr18:33694147C>T	ENST00000590986.1	-	7	2045	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	SLC39A6_ENST00000269187.5_Missense_Mutation_p.E586K|SLC39A6_ENST00000440549.2_Missense_Mutation_p.E311K			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	586					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.E586K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCTTTCAGCTCCTCCCGAGAg	0.512																																																1	Substitution - Missense(1)	kidney(1)											131	135	134					18																	33694147		2176	4279	6455	SO:0001583	missense	25800			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1756G>A	18.37:g.33694147C>T	ENSP00000465915:p.Glu586Lys		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926537	0.92319	.	.	ENSG00000141424	ENST00000269187;ENST00000543723;ENST00000440549	T;T	0.48522	0.81;0.81	6.04	6.04	0.98038	.	0.326225	0.38778	N	0.001563	T	0.49915	0.1585	N	0.24115	0.695	0.47584	D	0.999466	B;P	0.37500	0.408;0.597	P;B	0.50270	0.636;0.325	T	0.33979	-0.9847	10	0.30078	T	0.28	-17.0379	18.0887	0.89466	0.0:1.0:0.0:0.0	.	586;311	Q13433;Q13433-2	S39A6_HUMAN;.	K	586;311;311	ENSP00000269187:E586K;ENSP00000401139:E311K	ENSP00000269187:E586K	E	-	1	0	SLC39A6	31948145	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.932000	0.56537	2.873000	0.98535	0.563000	0.77884	GAG		0.512	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			T	33694147	C	T	33694147	3	4	281	1	0	0	0	0	1	0	0	0	14628	864	30	2	539	2	SLC39A6	18	33694147	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	26823463	33694147	44383101	73	16913											
PTPRS	5802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	5244419	5244419	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:5244419C>A	ENST00000587303.1	-	10	1162	c.1063G>T	c.(1063-1065)Ggc>Tgc	p.G355C	PTPRS_ENST00000372412.4_Missense_Mutation_p.G356C|PTPRS_ENST00000348075.2_Missense_Mutation_p.G342C|PTPRS_ENST00000588012.1_Missense_Mutation_p.G342C|PTPRS_ENST00000592099.1_Missense_Mutation_p.G342C|PTPRS_ENST00000357368.4_Missense_Mutation_p.G355C|PTPRS_ENST00000353284.2_Missense_Mutation_p.G342C|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.G351C			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	355	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G355C(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TCTGGGTTGCCCGAGTCCCAC	0.547																																																1	Substitution - Missense(1)	kidney(1)											127	115	119					19																	5244419		2203	4300	6503	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1063G>T	19.37:g.5244419C>A	ENSP00000467537:p.Gly355Cys		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127211	0.77549	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000003	T	0.77089	0.4079	M	0.90019	3.08	0.47476	D	0.999437	D;B;D;D;D;B	0.89917	1.0;0.193;1.0;1.0;1.0;0.421	D;B;D;D;D;B	0.97110	0.996;0.127;0.957;0.999;1.0;0.233	D	0.83630	0.0144	10	0.72032	D	0.01	.	16.0207	0.80486	0.0:1.0:0.0:0.0	.	355;342;346;342;355;368	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	C	368;356;355;355;355;351;342;355;346;342	ENSP00000361489:G356C;ENSP00000349932:G355C;ENSP00000262963:G351C;ENSP00000269907:G342C;ENSP00000327313:G342C	ENSP00000262963:G351C	G	-	1	0	PTPRS	5195419	1.000000	0.71417	0.931000	0.37212	0.883000	0.51084	7.545000	0.82128	2.018000	0.59344	0.561000	0.74099	GGC		0.547	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5244419	C	A	5244419	3	1	281	1	0	0	0	0	1	0	0	0	12817	623	22	4	4895	4	PTPRS	19	5244419	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08		5244419	53884564	74	16914											
CYP4F12	66002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15784434	15784434	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:15784434C>T	ENST00000550308.1	+	2	475	c.95C>T	c.(94-96)gCc>gTc	p.A32V	CYP4F12_ENST00000324632.10_Missense_Mutation_p.A32V	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	32					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.A32V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TGGCTACTCGCCCGCATCCTG	0.627																																																1	Substitution - Missense(1)	kidney(1)											81	88	85					19																	15784434		2200	4297	6497	SO:0001583	missense	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.95C>T	19.37:g.15784434C>T	ENSP00000448998:p.Ala32Val		E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	9.409	1.079898	0.20309	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.91996	-2.95;-2.95	2.46	1.42	0.22433	.	1.250510	0.06552	N	0.745260	D	0.89921	0.6855	M	0.66939	2.045	0.09310	N	1	P;B;B	0.35307	0.494;0.079;0.006	B;B;B	0.38803	0.282;0.061;0.014	T	0.76846	-0.2808	10	0.22109	T	0.4	.	5.018	0.14347	0.0:0.8271:0.0:0.1729	.	32;32;32	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	V	32	ENSP00000448998:A32V;ENSP00000321821:A32V	ENSP00000321821:A32V	A	+	2	0	CYP4F12	15645434	0.001000	0.12720	0.024000	0.17045	0.003000	0.03518	0.251000	0.18257	0.596000	0.29794	0.491000	0.48974	GCC		0.627	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			T	15784434	C	T	15784434	3	4	281	1	0	0	0	0	1	0	0	0	4189	739	26	2	97	2	CYP4F12	19	15784434	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	10540015	15784434	43344549	75	16915											
PLD3	23646	broad.mit.edu;hgsc.bcm.edu	37	19	40873738	40873738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:40873738G>A	ENST00000409587.1	+	6	778	c.381G>A	c.(379-381)tgG>tgA	p.W127*	PLD3_ENST00000356508.5_Nonsense_Mutation_p.W127*|PLD3_ENST00000409419.1_Nonsense_Mutation_p.W127*|PLD3_ENST00000409735.4_Nonsense_Mutation_p.W127*|PLD3_ENST00000409281.1_Nonsense_Mutation_p.W127*			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	127					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)	p.W74*(1)|p.W127*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CCTTCTACTGGACCCTCACCA	0.677																																																2	Substitution - Nonsense(2)	kidney(2)											47	38	41					19																	40873738		2199	4296	6495	SO:0001587	stop_gained	23646			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"phospholipase D3"			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.381G>A	19.37:g.40873738G>A	ENSP00000387050:p.Trp127*		Q92853|Q9BW87	Nonsense_Mutation	SNP	ENST00000409587.1	37	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	G	38	7.002070	0.97994	.	.	ENSG00000105223	ENST00000392032;ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281;ENST00000359274	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5252	17.4515	0.87593	0.0:0.0:1.0:0.0	.	.	.	.	X	127;127;127;127;108;127;127;127	.	ENSP00000348901:W127X	W	+	3	0	PLD3	45565578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.371000	0.73119	2.714000	0.92807	0.563000	0.77884	TGG		0.677	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		A	40873738	G	A	40873738	4	1	281	1	0	0	0	0	0	1	0	0	12049	1183	41	2	395	2	PLD3	19	40873738	Nonsense_Mutation	SNP	G	TCGA-B8-5164-01A-01D-1421-08	25089304	40873738	18255245	76	16916											
SFRS16	11129	broad.mit.edu	37	19	45562555	45562555	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:45562555C>A	ENST00000221455.3	+	8	741	c.643C>A	c.(643-645)Cag>Aag	p.Q215K	CLASRP_ENST00000544944.2_Missense_Mutation_p.Q215K|CLASRP_ENST00000391953.4_Missense_Mutation_p.Q153K	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	215					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.Q215K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TGAATTGAACCAGGAGCAGGT	0.602											OREG0025548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											145	104	118					19																	45562555		2203	4300	6503	SO:0001583	missense	0			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.643C>A	19.37:g.45562555C>A	ENSP00000221455:p.Gln215Lys	932	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036429	0.35893	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.41400	1.6;1.58;1.0;1.6	5.49	4.39	0.52855	.	0.000000	0.34178	U	0.004198	T	0.15912	0.0383	N	0.04508	-0.205	0.37880	D	0.930368	P;B;B	0.36837	0.571;0.024;0.007	B;B;B	0.30646	0.118;0.037;0.009	T	0.23190	-1.0195	10	0.05833	T	0.94	-30.4462	11.9108	0.52737	0.0:0.7035:0.2965:0.0	.	153;215;215	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	K	215;215;153;215	ENSP00000221455:Q215K;ENSP00000375814:Q215K;ENSP00000375815:Q153K;ENSP00000438702:Q215K	ENSP00000221455:Q215K	Q	+	1	0	CLASRP	50254395	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.768000	0.38511	2.592000	0.87571	0.650000	0.86243	CAG		0.602	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		A	45562555	C	A	45562555	3	1	281	1	0	0	0	0	1	0	0	0	14178	595	21	4	669	4	SFRS16	19	45562555	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	4688817	45562555	13566428	77	16917											
KLK5	25818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51453328	51453328	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:51453328T>G	ENST00000336334.3	-	3	470	c.118A>C	c.(118-120)Aac>Cac	p.N40H	KLK5_ENST00000391809.2_Missense_Mutation_p.N40H|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.N40H|CTB-147C22.8_ENST00000594939.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	40				Missing (in Ref. 3; AAG33358). {ECO:0000305}.	epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.N40H(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGCACGGTGTTAGAGGGGTGG	0.632																																																1	Substitution - Missense(1)	kidney(1)											45	43	44					19																	51453328		2203	4300	6503	SO:0001583	missense	25818			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.118A>C	19.37:g.51453328T>G	ENSP00000337733:p.Asn40His		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	t	8.744	0.919601	0.17982	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.88896	-2.44;-2.44	4.89	-2.96	0.05547	.	1.537520	0.04973	U	0.464264	T	0.72740	0.3498	N	0.14661	0.345	0.09310	N	1	P	0.39060	0.657	B	0.31614	0.133	T	0.65059	-0.6260	10	0.42905	T	0.14	.	0.9519	0.01378	0.2622:0.2794:0.2808:0.1777	.	40	Q9Y337	KLK5_HUMAN	H	40	ENSP00000337733:N40H;ENSP00000375685:N40H	ENSP00000337733:N40H	N	-	1	0	KLK5	56145140	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.100000	0.10990	-0.774000	0.04590	-1.910000	0.00522	AAC		0.632	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		G	51453328	T	G	51453328	3	3	281	1	0	0	0	0	1	0	0	0	8409	1754	61	5	779	5	KLK5	19	51453328	Missense_Mutation	SNP	T	TCGA-B8-5164-01A-01D-1421-08	5890773	51453328	7675655	78	16918											
FIZ1	84922	broad.mit.edu	37	19	56104632	56104632	+	Silent	SNP	C	C	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:56104632C>T	ENST00000221665.3	-	3	764	c.675G>A	c.(673-675)gtG>gtA	p.V225V		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	225					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)	p.V225V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGAAGGGCTTCACGTCGGTGT	0.766																																																1	Substitution - coding silent(1)	kidney(1)											5	6	5					19																	56104632		1148	2283	3431	SO:0001819	synonymous_variant	84922			AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"Zinc fingers, C2H2-type"	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.675G>A	19.37:g.56104632C>T			A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	CCDS12928.1																																																																																				0.766	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		T	56104632	C	T	56104632	2	4	281	1	0	0	0	0	0	0	0	1	5902	813	29	2		2	FIZ1	19	56104632	Silent	SNP	C	TCGA-B8-5164-01A-01D-1421-08	4651304	56104632	3024351	79	16919											
NLRP4	147945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56370366	56370366	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr19:56370366A>G	ENST00000301295.6	+	3	2029	c.1607A>G	c.(1606-1608)aAg>aGg	p.K536R	NLRP4_ENST00000346986.5_Missense_Mutation_p.K536R|NLRP4_ENST00000587891.1_Missense_Mutation_p.K461R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	536					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.K536R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAGTGCCTGAAGAGCTTAGGG	0.453																																																1	Substitution - Missense(1)	kidney(1)											73	78	76					19																	56370366		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1607A>G	19.37:g.56370366A>G	ENSP00000301295:p.Lys536Arg		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.713639	0.30413	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.92199	-2.99;-2.99	3.48	-0.97	0.10306	.	.	.	.	.	D	0.84297	0.5441	L	0.34521	1.04	0.09310	N	1	P;P;P	0.45283	0.57;0.855;0.773	B;B;B	0.38264	0.202;0.269;0.127	T	0.74453	-0.3660	9	0.49607	T	0.09	.	7.1982	0.25866	0.5301:0.0:0.4699:0.0	.	536;461;536	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	R	536	ENSP00000301295:K536R;ENSP00000344787:K536R	ENSP00000301295:K536R	K	+	2	0	NLRP4	61062178	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.211000	0.17474	-0.306000	0.08818	0.402000	0.26972	AAG		0.453	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		G	56370366	A	G	56370366	3	3	281	1	0	0	0	0	1	0	0	0	10481	72	3	3	1613	3	NLRP4	19	56370366	Missense_Mutation	SNP	A	TCGA-B8-5164-01A-01D-1421-08	265734	56370366	2758617	80	16920											
CST11	140880	hgsc.bcm.edu;ucsc.edu	37	20	23432483	23432484	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr20:23432483_23432484insT	ENST00000377009.3	-	2	335_336	c.302_303insA	c.(301-303)aacfs	p.N101fs	CST11_ENST00000377007.3_Intron	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	101					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGGGACACAGTTCGTGGTCTC	0.52																																																0																																										SO:0001589	frameshift_variant	140880			AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.303dupA	20.37:g.23432485_23432485dupT	ENSP00000366208:p.Asn101fs		Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Frame_Shift_Ins	INS	ENST00000377009.3	37	CCDS13155.1																																																																																				0.52	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		T	23432484	-	T	23432483	7	5	281	1	0	1	1	0	0	0	0	0	3973	1020	36	0	121	0	CST11	20	23432483	Frame_Shift_Ins	INS	-	TCGA-B8-5164-01A-01D-1421-08		23432483	39593037	81	16921											
DHX35	60625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37630475	37630476	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr20:37630475_37630476TA>AT	ENST00000252011.3	+	9	778_779	c.745_746TA>AT	c.(745-747)TAt>ATt	p.Y249I	DHX35_ENST00000373325.2_Missense_Mutation_p.Y249I|DHX35_ENST00000373323.4_Missense_Mutation_p.Y218I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	249					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.Y249N(1)|p.Y249F(1)|p.Y249>?(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GGATATCTTTTATCTACAAAGG	0.391																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	Exception_encountered	20.37:g.37630475_37630476delinsAT	ENSP00000252011:p.Tyr249Ile		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	CCDS13310.1																																																																																				0.391	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		AT	37630476	TA	AT	37630475	3	1	281	1	0	0	0	0	1	0	0	0	4510	1754	61	5	779	5	DHX35	20	37630475	Missense_Mutation	DNP	TA	TCGA-B8-5164-01A-01D-1421-08	14197992	37630475	25395045	82	16922											
ZNFX1	57169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47887899	47887899	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr20:47887899T>G	ENST00000396105.1	-	3	696	c.450A>C	c.(448-450)gaA>gaC	p.E150D	ZNFX1_ENST00000371754.4_Missense_Mutation_p.E150D|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E150D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	150							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E150D(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGAAGACTTTCTAAGAACT	0.493																																																2	Substitution - Missense(2)	kidney(2)											110	117	115					20																	47887899		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.450A>C	20.37:g.47887899T>G	ENSP00000379412:p.Glu150Asp		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820603	0.50633	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.97	3.36	0.38483	.	0.103017	0.64402	D	0.000006	T	0.71542	0.3352	M	0.61703	1.905	0.40442	D	0.980052	D	0.67145	0.996	P	0.58266	0.836	T	0.68603	-0.5365	10	0.41790	T	0.15	-18.252	7.4253	0.27096	0.0:0.2975:0.0:0.7025	.	150	Q9P2E3	ZNFX1_HUMAN	D	150	ENSP00000360819:E150D;ENSP00000360817:E150D;ENSP00000379412:E150D;ENSP00000360809:E150D	ENSP00000360809:E150D	E	-	3	2	ZNFX1	47321306	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.748000	0.26305	0.374000	0.24650	0.533000	0.62120	GAA		0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		G	47887899	T	G	47887899	3	3	281	1	0	0	0	0	1	0	0	0	18210	1838	64	5	5354	5	ZNFX1	20	47887899	Missense_Mutation	SNP	T	TCGA-B8-5164-01A-01D-1421-08	10257424	47887899	15137621	83	16923											
LAMA5	3911	hgsc.bcm.edu	37	20	60902342	60902342	+	Missense_Mutation	SNP	C	C	G	rs371271948		TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr20:60902342C>G	ENST00000252999.3	-	38	5125	c.5059G>C	c.(5059-5061)Gag>Cag	p.E1687Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1687	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.E1687Q(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGAAAGCCTCGGGCACAGCC	0.687																																																1	Substitution - Missense(1)	kidney(1)											22	19	20					20																	60902342		2192	4295	6487	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5059G>C	20.37:g.60902342C>G	ENSP00000252999:p.Glu1687Gln		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251560	0.22880	.	.	ENSG00000130702	ENST00000252999	T	0.19250	2.16	5.17	4.2	0.49525	Laminin B type IV (1);	0.163369	0.52532	N	0.000074	T	0.16428	0.0395	L	0.40543	1.245	0.80722	D	1	B	0.23735	0.09	B	0.17433	0.018	T	0.05273	-1.0895	10	0.23302	T	0.38	.	10.836	0.46688	0.0:0.7948:0.1315:0.0737	.	1687	O15230	LAMA5_HUMAN	Q	1687	ENSP00000252999:E1687Q	ENSP00000252999:E1687Q	E	-	1	0	LAMA5	60335737	0.993000	0.37304	0.250000	0.24296	0.021000	0.10359	0.989000	0.29629	1.131000	0.42111	0.579000	0.79373	GAG		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		G	60902342	C	G	60902342	3	3	281	1	0	0	0	0	1	0	0	0	8611	893	31	4	6200	4	LAMA5	20	60902342	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	13014443	60902342	2123178	84	16924											
ABCG1	9619	broad.mit.edu;hgsc.bcm.edu	37	21	43711704	43711704	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr21:43711704A>C	ENST00000361802.2	+	13	1772	c.1627A>C	c.(1627-1629)Atg>Ctg	p.M543L	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.M533L|ABCG1_ENST00000398449.3_Missense_Mutation_p.M531L|ABCG1_ENST00000343687.3_Missense_Mutation_p.M542L|ABCG1_ENST00000398437.1_Missense_Mutation_p.M689L|ABCG1_ENST00000340588.4_Missense_Mutation_p.M651L|ABCG1_ENST00000347800.2_Missense_Mutation_p.M528L	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	543	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.M533L(1)|p.M543L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCTGGGCACCATGACCTCCCT	0.657																																																2	Substitution - Missense(2)	kidney(2)											77	64	68					21																	43711704		2203	4300	6503	SO:0001583	missense	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1627A>C	21.37:g.43711704A>C	ENSP00000354995:p.Met543Leu		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.124|2.124	-0.400710|-0.400710	0.04865|0.04865	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161|ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	.|T;T;T;T;T;T;T	.|0.62788	.|0.0;0.0;0.0;0.0;0.0;0.0;0.0	4.27|4.27	4.27|4.27	0.50696|0.50696	.|ABC-2 type transporter (1);	.|0.054356	.|0.64402	.|D	.|0.000001	T|T	0.28200|0.28200	0.0696|0.0696	N|N	0.00630|0.00630	-1.315|-1.315	0.41325|0.41325	D|D	0.987204|0.987204	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.06405	.|0.002;0.001;0.001;0.0;0.001;0.001	T|T	0.20874|0.20874	-1.0262|-1.0262	5|9	.|.	.|.	.|.	-41.9245|-41.9245	13.7035|13.7035	0.62624|0.62624	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|554;542;543;531;528;533	.|B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.|.;.;ABCG1_HUMAN;.;.;.	P|L	278;266;266|533;528;531;543;542;689;651	.|ENSP00000381475:M533L;ENSP00000291524:M528L;ENSP00000381467:M531L;ENSP00000354995:M543L;ENSP00000339744:M542L;ENSP00000381464:M689L;ENSP00000343820:M651L	.|.	H|M	+|+	2|1	0|0	ABCG1|ABCG1	42584773|42584773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.840000|0.840000	0.47671|0.47671	2.358000|2.358000	0.44134|0.44134	1.698000|1.698000	0.51180|0.51180	0.482000|0.482000	0.46254|0.46254	CAT|ATG		0.657	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		C	43711704	A	C	43711704	3	2	281	1	0	0	0	0	1	0	0	0	68	217	8	5	1845	5	ABCG1	21	43711704	Missense_Mutation	SNP	A	TCGA-B8-5164-01A-01D-1421-08		43711704	4418191	85	16925											
MED15	51586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	20921042	20921042	+	Silent	SNP	T	T	C			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chr22:20921042T>C	ENST00000263205.7	+	7	1048	c.979T>C	c.(979-981)Ttg>Ctg	p.L327L	MED15_ENST00000382974.2_Silent_p.L256L|MED15_ENST00000292733.7_Silent_p.L327L|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_Silent_p.L301L|MED15_ENST00000406969.1_Silent_p.L301L|MED15_ENST00000425759.2_Silent_p.L216L|MED15_ENST00000542773.1_Silent_p.L132L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	327	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L327L(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GACCCAGCCTTTGGTGTCACA	0.582																																																2	Substitution - coding silent(2)	kidney(2)											193	182	186					22																	20921042		2203	4300	6503	SO:0001819	synonymous_variant	51586			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.979T>C	22.37:g.20921042T>C			D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	CCDS33602.1																																																																																				0.582	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		C	20921042	T	C	20921042	2	2	281	1	0	0	0	0	0	0	0	1	9435	1838	64	3		3	MED15	22	20921042	Silent	SNP	T	TCGA-B8-5164-01A-01D-1421-08		20921042	30383524	86	16926											
UXT	8409	broad.mit.edu	37	X	47518230	47518230	+	Splice_Site	SNP	G	G	A			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chrX:47518230G>A	ENST00000333119.3	-	2	152	c.97C>T	c.(97-99)Cga>Tga	p.R33*	RP1-212G6.7_ENST00000591832.1_RNA|UXT_ENST00000460840.1_5'Flank|UXT_ENST00000335890.2_Splice_Site_p.R45*|RP1-212G6.7_ENST00000590504.1_RNA	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	33					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.R45*(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						GTCACTCACCGCAAGTCCCGC	0.647																																																2	Substitution - Nonsense(2)	kidney(1)|central_nervous_system(1)											56	45	49					X																	47518230		2202	4299	6501	SO:0001630	splice_region_variant	8409			AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"androgen receptor trapped clone 27", "SKP2-associated alpha PFD 1"	300234	"ubiquitously-expressed transcript"			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.98+1C>T	X.37:g.47518230G>A			B2R561|Q5JZG3|Q9Y6E5	Nonsense_Mutation	SNP	ENST00000333119.3	37	CCDS14285.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692618	0.88735	.	.	ENSG00000126756	ENST00000333119;ENST00000335890;ENST00000376964	.	.	.	4.97	-0.173	0.13322	.	0.708385	0.13586	N	0.376975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	1.4284	12.7633	0.57378	0.0:0.0:0.3377:0.6623	.	.	.	.	X	33;45;33	.	ENSP00000327797:R33X	R	-	1	2	UXT	47403174	0.620000	0.27068	0.021000	0.16686	0.583000	0.36354	0.090000	0.15025	-0.296000	0.08947	-0.362000	0.07510	CGA		0.647	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1	NM_153477	Nonsense_Mutation	A	47518230	G	A	47518230	5	1	281	1	0	0	0	0	0	0	1	0	17115	1101	38	1	400	1	UXT	23	47518230	Splice_Site	SNP	G	TCGA-B8-5164-01A-01D-1421-08		47518230	107752330	87	16927											
PJA1	64219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	68382325	68382325	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5164-01A-01D-1421-08	TCGA-B8-5164-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6f8341c0-3a29-4ba5-9ba9-d23aeb845761	c3830c9f-cb3e-4870-9b9d-584a84ddedd7	g.chrX:68382325C>G	ENST00000361478.1	-	2	1134	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.E198Q|PJA1_ENST00000374583.1_Missense_Mutation_p.E253Q|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	253					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E253Q(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ACCACAGGTTCCTCTGCACTC	0.483																																																1	Substitution - Missense(1)	kidney(1)											63	55	58					X																	68382325		2203	4300	6503	SO:0001583	missense	64219			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.757G>C	X.37:g.68382325C>G	ENSP00000355014:p.Glu253Gln		A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	c	11.17	1.560616	0.27827	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.05925	3.37;3.37;3.37	3.26	2.39	0.29439	.	0.000000	0.51477	U	0.000088	T	0.15435	0.0372	M	0.62723	1.935	0.18873	N	0.999989	D	0.69078	0.997	P	0.60682	0.878	T	0.01940	-1.1243	10	0.87932	D	0	-4.5488	8.138	0.31067	0.0:0.8701:0.0:0.1299	.	253	Q8NG27	PJA1_HUMAN	Q	168;253;253;198	ENSP00000363711:E253Q;ENSP00000355014:E253Q;ENSP00000363699:E198Q	ENSP00000355014:E253Q	E	-	1	0	PJA1	68299050	1.000000	0.71417	0.035000	0.18076	0.433000	0.31745	4.523000	0.60545	0.792000	0.33850	0.536000	0.68110	GAA		0.483	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		G	68382325	C	G	68382325	3	3	281	1	0	0	0	0	1	0	0	0	11963	864	30	4	1178	4	PJA1	23	68382325	Missense_Mutation	SNP	C	TCGA-B8-5164-01A-01D-1421-08	20864095	68382325	86888235	88	16928											
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	A	rs5030807		TCGA-B8-5164-01A-01D-2099-10	TCGA-B8-5164-10A-01W-1476-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq	.		PacBio RS	4eaedfa1-0ea0-4c65-8151-246ee30d0281	5f407634-cb71-404f-83a5-92c695fbd62a	g.chr3:10183797T>A	ENST00000256474.2	+	1	1106	c.266T>A	c.(265-267)cTc>cAc	p.L89H	VHL_ENST00000345392.2_Missense_Mutation_p.L89H|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13	16	15					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>A	3.37:g.10183797T>A	ENSP00000256474:p.Leu89His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986585	0.93106	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99576	0.9847	L	0.41492	1.28	0.33129	D	0.542832	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.957	D	0.97755	1.0217	10	0.87932	D	0	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	.	89;89	P40337-2;P40337	.;VHL_HUMAN	H	89	ENSP00000256474:L89H;ENSP00000344757:L89H	ENSP00000256474:L89H	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183797	T	A	10183797	3	1	282	1	0	0	0	0	1	0	0	0	17167	1551	54	5	268	5	VHL	3	10183797	Missense_Mutation	SNP	T	TCGA-B8-5164-01A-01D-2099-10		10183797	187838633	1	16929											
LGR6	59352	broad.mit.edu;hgsc.bcm.edu	37	1	202287589	202287589	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr1:202287589T>G	ENST00000367278.3	+	18	2247	c.2158T>G	c.(2158-2160)Tac>Gac	p.Y720D	LGR6_ENST00000255432.7_Missense_Mutation_p.Y668D|LGR6_ENST00000439764.2_Missense_Mutation_p.Y581D	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	720					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.Y720D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTGCCTGCCCTACGCGCCACC	0.672																																																1	Substitution - Missense(1)	kidney(1)											41	38	39					1																	202287589		2203	4299	6502	SO:0001583	missense	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2158T>G	1.37:g.202287589T>G	ENSP00000356247:p.Tyr720Asp		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800663	0.50315	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	D;D;D	0.86030	-2.06;-2.06;-2.06	4.36	3.22	0.36961	.	0.142736	0.49305	D	0.000158	D	0.82527	0.5056	L	0.36672	1.1	0.43421	D	0.995574	D;P;P	0.53462	0.96;0.696;0.605	P;B;P	0.51742	0.678;0.397;0.648	T	0.81883	-0.0728	10	0.72032	D	0.01	.	8.7544	0.34637	0.0:0.0879:0.0:0.9121	.	581;668;720	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	D	720;668;581	ENSP00000356247:Y720D;ENSP00000255432:Y668D;ENSP00000387869:Y581D	ENSP00000255432:Y668D	Y	+	1	0	LGR6	200554212	0.992000	0.36948	0.983000	0.44433	0.783000	0.44284	5.430000	0.66501	0.829000	0.34733	0.397000	0.26171	TAC		0.672	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		G	202287589	T	G	202287589	3	3	283	1	0	0	0	0	1	0	0	0	8760	1522	53	5	2375	5	LGR6	1	202287589	Missense_Mutation	SNP	T	TCGA-B8-5165-01A-01D-1421-08		202287589	46963032	1	16930											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188321	10188321	+	Splice_Site	SNP	G	G	T	rs5030814	byFrequency	TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr3:10188321G>T	ENST00000256474.2	+	2	1303		c.e2+1		VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(13)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACACTGCCAGGTACTGACGTT	0.403		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	13	Unknown(13)	kidney(12)|endometrium(1)	GRCh37	CS004297|CS961708	VHL	S	rs5030814						166	158	161					3																	10188321		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.463+1G>T	3.37:g.10188321G>T			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561929	0.65538	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4002	0.74834	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163321	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.278000	0.78587	2.310000	0.77875	0.462000	0.41574	.		0.403	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	T	10188321	G	T	10188321	5	4	283	1	0	0	0	0	0	0	1	0	17167	1275	44	4	470	4	VHL	3	10188321	Splice_Site	SNP	G	TCGA-B8-5165-01A-01D-1421-08		10188321	187834109	2	16931											
C3orf62	375341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49314185	49314185	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr3:49314185A>G	ENST00000343010.3	-	1	1157	c.121T>C	c.(121-123)Tgc>Cgc	p.C41R	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	41								p.C41R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGCCTGTGCACTCCTGGGAA	0.557																																																1	Substitution - Missense(1)	kidney(1)											37	41	40					3																	49314185		2203	4300	6503	SO:0001583	missense	375341			AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.121T>C	3.37:g.49314185A>G	ENSP00000341139:p.Cys41Arg		Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917853	0.73098	.	.	ENSG00000188315	ENST00000343010;ENST00000436325	T;T	0.51071	0.72;0.72	4.56	4.56	0.56223	.	0.000000	0.56097	D	0.000029	T	0.55242	0.1908	L	0.34521	1.04	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.58555	-0.7616	10	0.87932	D	0	-11.6571	10.2425	0.43321	1.0:0.0:0.0:0.0	.	41	Q6ZUJ4	CC062_HUMAN	R	41;39	ENSP00000341139:C41R;ENSP00000413663:C39R	ENSP00000341139:C41R	C	-	1	0	C3orf62	49289189	0.702000	0.27816	0.999000	0.59377	0.839000	0.47603	0.366000	0.20365	1.911000	0.55334	0.528000	0.53228	TGC		0.557	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		G	49314185	A	G	49314185	3	3	283	1	0	0	0	0	1	0	0	0	2240	159	6	3	694	3	C3orf62	3	49314185	Missense_Mutation	SNP	A	TCGA-B8-5165-01A-01D-1421-08	39125864	49314185	148708245	3	16932											
CDH18	1016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	19483487	19483487	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr5:19483487G>C	ENST00000507958.1	-	14	2795	c.1805C>G	c.(1804-1806)gCa>gGa	p.A602G	CDH18_ENST00000502796.1_Missense_Mutation_p.Q566E|CDH18_ENST00000382275.1_Missense_Mutation_p.A602G|CDH18_ENST00000506372.1_Missense_Mutation_p.Q567E|CDH18_ENST00000274170.4_Missense_Mutation_p.A602G			Q13634	CAD18_HUMAN	cadherin 18, type 2	602	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A602G(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GAAGGCTTCTGCATGGCAGGT	0.522																																																2	Substitution - Missense(2)	kidney(2)											76	69	71					5																	19483487		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1805C>G	5.37:g.19483487G>C	ENSP00000425093:p.Ala602Gly		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.33|15.33	2.801192|2.801192	0.50315|0.50315	.|.	.|.	ENSG00000145526|ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170|ENST00000506372;ENST00000502796;ENST00000515257	T;T;T|T;T;T	0.58940|0.57752	0.3;0.3;0.3|0.38;0.38;0.53	5.54|5.54	5.54|5.54	0.83059|0.83059	Cadherin (1);|.	0.118551|.	0.56097|.	D|.	0.000023|.	T|T	0.57533|0.57533	0.2060|0.2060	M|M	0.80183|0.80183	2.485|2.485	0.43868|0.43868	D|D	0.996479|0.996479	B|B	0.17268|0.06786	0.021|0.001	B|B	0.20384|0.06405	0.029|0.002	T|T	0.54814|0.54814	-0.8237|-0.8237	9|8	.|.	.|.	.|.	.|.	18.0513|18.0513	0.89349|0.89349	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	602|566	Q13634|B4DHG6	CAD18_HUMAN|.	G|E	602|567;566;433	ENSP00000371710:A602G;ENSP00000425093:A602G;ENSP00000274170:A602G|ENSP00000424931:Q567E;ENSP00000422138:Q566E;ENSP00000427383:Q433E	.|.	A|Q	-|-	2|1	0|0	CDH18|CDH18	19519244|19519244	0.995000|0.995000	0.38212|0.38212	0.897000|0.897000	0.35233|0.35233	0.911000|0.911000	0.54048|0.54048	3.378000|3.378000	0.52432|0.52432	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.522	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		C	19483487	G	C	19483487	3	2	283	1	0	0	0	0	1	0	0	0	3105	1328	46	4	575	4	CDH18	5	19483487	Missense_Mutation	SNP	G	TCGA-B8-5165-01A-01D-1421-08		19483487	161431773	4	16933											
SAR1B	51128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	133948437	133948437	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr5:133948437T>A	ENST00000402673.2	-	4	466	c.188A>T	c.(187-189)gAa>gTa	p.E63V	SAR1B_ENST00000502539.1_5'UTR|SAR1B_ENST00000507419.1_5'UTR|SAR1B_ENST00000509937.1_5'UTR|SAR1B_ENST00000439578.1_Missense_Mutation_p.E63V	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	63					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.E63V(1)		kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATGGTCAGTTCTTCGGAAGC	0.274																																																1	Substitution - Missense(1)	kidney(1)											64	72	69					5																	133948437		2202	4299	6501	SO:0001583	missense	51128			AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"SAR1a gene homolog (S. cerevisiae) 2", "SAR1a gene homolog 2 (S. cerevisiae)", "SAR1 homolog B (S. cerevisiae)"	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.188A>T	5.37:g.133948437T>A	ENSP00000385432:p.Glu63Val		D3DQA4|Q567T4	Missense_Mutation	SNP	ENST00000402673.2	37	CCDS4177.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883004	0.91740	.	.	ENSG00000152700	ENST00000402673;ENST00000439578;ENST00000505758;ENST00000502286	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.091787	0.85682	D	0.000000	T	0.81898	0.4920	M	0.86097	2.795	0.80722	D	1	P	0.44690	0.841	D	0.67231	0.95	D	0.84146	0.0420	10	0.87932	D	0	-22.3267	16.4237	0.83790	0.0:0.0:0.0:1.0	.	63	Q9Y6B6	SAR1B_HUMAN	V	63	ENSP00000385432:E63V;ENSP00000404997:E63V;ENSP00000425466:E63V;ENSP00000423005:E63V	ENSP00000385432:E63V	E	-	2	0	SAR1B	133976336	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.027000	0.88791	2.279000	0.76181	0.533000	0.62120	GAA		0.274	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	NM_016103		A	133948437	T	A	133948437	3	1	283	1	0	0	0	0	1	0	0	0	13846	1783	62	5	424	5	SAR1B	5	133948437	Missense_Mutation	SNP	T	TCGA-B8-5165-01A-01D-1421-08	114464950	133948437	46966823	5	16934											
PCDHGB3	56102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140751808	140751808	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr5:140751808T>A	ENST00000576222.1	+	1	1978	c.1847T>A	c.(1846-1848)cTg>cAg	p.L616Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	616	Cadherin 6. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCCGGGCTGTTCAGCCTG	0.687																																																0													45	53	51					5																	140751808		2198	4290	6488	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1847T>A	5.37:g.140751808T>A	ENSP00000461862:p.Leu616Gln		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.687	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		A	140751808	T	A	140751808	3	1	283	1	0	0	0	0	1	0	0	0	11566	1580	55	5	1849	5	PCDHGB3	5	140751808	Missense_Mutation	SNP	T	TCGA-B8-5165-01A-01D-1421-08	6803371	140751808	40163452	6	16935											
SLC34A1	6569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176825284	176825284	+	Silent	SNP	C	C	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr5:176825284C>A	ENST00000324417.5	+	13	2008	c.1917C>A	c.(1915-1917)ctC>ctA	p.L639L	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	639					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.L639L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACCCGCCTCTAGGCTGTGG	0.662																																																1	Substitution - coding silent(1)	kidney(1)											32	37	35					5																	176825284		2147	4193	6340	SO:0001819	synonymous_variant	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1917C>A	5.37:g.176825284C>A			B4DPE3	Silent	SNP	ENST00000324417.5	37	CCDS4418.1																																																																																				0.662	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		A	176825284	C	A	176825284	2	1	283	1	0	0	0	0	0	0	0	1	14573	900	32	4		4	SLC34A1	5	176825284	Silent	SNP	C	TCGA-B8-5165-01A-01D-1421-08	36073476	176825284	4089976	7	16936											
RIPK1	8737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	3113551	3113551	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr6:3113551T>A	ENST00000259808.4	+	11	2292	c.1994T>A	c.(1993-1995)tTg>tAg	p.L665*	RIPK1_ENST00000541791.1_Nonsense_Mutation_p.L619*|RIPK1_ENST00000380409.2_Nonsense_Mutation_p.L665*			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	665	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.L665*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CTGAGCAGCTTGATTTACGTC	0.562																																																1	Substitution - Nonsense(1)	kidney(1)											49	46	47					6																	3113551		2203	4300	6503	SO:0001587	stop_gained	8737			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1994T>A	6.37:g.3113551T>A	ENSP00000259808:p.Leu665*		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Nonsense_Mutation	SNP	ENST00000259808.4	37	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	T	39	7.561636	0.98358	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409;ENST00000453483	.	.	.	6.04	6.04	0.98038	.	0.253347	0.39210	N	0.001421	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4872	15.1596	0.72771	0.0:0.0:0.0:1.0	.	.	.	.	X	665;619;665;267	.	ENSP00000259808:L665X	L	+	2	0	RIPK1	3058550	0.977000	0.34250	0.014000	0.15608	0.008000	0.06430	5.804000	0.69135	2.317000	0.78254	0.460000	0.39030	TTG		0.562	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		A	3113551	T	A	3113551	4	1	283	1	0	0	0	0	0	1	0	0	13386	1821	63	5	2032	5	RIPK1	6	3113551	Nonsense_Mutation	SNP	T	TCGA-B8-5165-01A-01D-1421-08		3113551	168001516	8	16937											
RING1	6015	broad.mit.edu	37	6	33180123	33180123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr6:33180123delA	ENST00000374656.4	+	7	1376	c.1168delA	c.(1168-1170)aagfs	p.K390fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	390	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GAAATTCTGGAAGGTGTCCCG	0.567																																																0													29	25	26					6																	33180123		1507	2707	4214	SO:0001589	frameshift_variant	6015				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.1168delA	6.37:g.33180123delA	ENSP00000363787:p.Lys390fs		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Frame_Shift_Del	DEL	ENST00000374656.4	37	CCDS34424.1																																																																																				0.567	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			-	33180123	A	-	33180123	7	5	283	1	0	1	0	1	0	0	0	0	13380	247	9	0	1190	0	RING1	6	33180123	Frame_Shift_Del	DEL	A	TCGA-B8-5165-01A-01D-1421-08	30066572	33180123	137934944	9	16938											
TRHR	7201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110131518	110131518	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr8:110131518A>C	ENST00000518632.1	+	3	1382	c.1031A>C	c.(1030-1032)aAa>aCa	p.K344T	TRHR_ENST00000311762.2_Missense_Mutation_p.K344T			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	344					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.K344T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCAACAGAGAAACCTGCTAAC	0.473																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											153	147	149					8																	110131518		2203	4299	6502	SO:0001583	missense	7201				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.1031A>C	8.37:g.110131518A>C	ENSP00000430711:p.Lys344Thr		Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479586	0.44044	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.59502	0.26;0.26	5.86	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.69823	2.125	0.58432	D	0.999998	B	0.26635	0.155	B	0.29862	0.108	T	0.50625	-0.8806	10	0.23891	T	0.37	-9.5365	11.3532	0.49600	0.9292:0.0:0.0708:0.0	.	344	P34981	TRFR_HUMAN	T	344	ENSP00000430711:K344T;ENSP00000309818:K344T	ENSP00000309818:K344T	K	+	2	0	TRHR	110200694	1.000000	0.71417	0.090000	0.20809	0.901000	0.52897	8.871000	0.92346	1.041000	0.40125	0.477000	0.44152	AAA		0.473	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			C	110131518	A	C	110131518	3	2	283	1	0	0	0	0	1	0	0	0	16485	14	1	5	1037	5	TRHR	8	110131518	Missense_Mutation	SNP	A	TCGA-B8-5165-01A-01D-1421-08		110131518	36232504	10	16939											
C9orf117	286207	broad.mit.edu	37	9	130475074	130475074	+	Silent	SNP	C	C	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr9:130475074C>A	ENST00000373295.2	+	7	1264	c.1224C>A	c.(1222-1224)ctC>ctA	p.L408L	C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_Silent_p.L57L	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	408								p.L408L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGGTCATGCTCAGCTCCACTG	0.592																																																1	Substitution - coding silent(1)	kidney(1)											80	87	84					9																	130475074		2190	4288	6478	SO:0001819	synonymous_variant	286207			AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.1224C>A	9.37:g.130475074C>A			A5D8T9	Silent	SNP	ENST00000373295.2	37	CCDS43878.1																																																																																				0.592	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		A	130475074	C	A	130475074	2	1	283	1	0	0	0	0	0	0	0	1	2453	813	29	4		4	C9orf117	9	130475074	Silent	SNP	C	TCGA-B8-5165-01A-01D-1421-08		130475074	10738357	11	16940											
GSTO1	9446	hgsc.bcm.edu	37	10	106022830	106022832	+	In_Frame_Del	DEL	GAG	GAG	-	rs113200905|rs72323784	byFrequency	TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr10:106022830_106022832delGAG	ENST00000369713.5	+	4	654_656	c.460_462delGAG	c.(460-462)gagdel	p.E155del	GSTO1_ENST00000539281.1_In_Frame_Del_p.E127del|GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Intron	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	155	GST C-terminal.		Missing (in allele GSTO1*B; decreased protein stability). {ECO:0000269|PubMed:12618591, ECO:0000269|PubMed:12928150}.		cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	TACCAAGCTAGAGGAGGTAATTA	0.365														207	0.0413339	0.0219	0.0173	5008	,	,		19449	0.0119		0.0348	False		,,,				2504	0.1217															0									,,	125,4139		5,115,2012					,,	-1.8	1		dbSNP_130	72	247,8007		3,241,3883	no	coding,coding,intron	GSTO1	NM_004832.2,NM_001191003.1,NM_001191002.1	,,	8,356,5895	A1A1,A1R,RR		2.9925,2.9315,2.9717	,,	,,		372,12146				SO:0001651	inframe_deletion	9446			AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.460_462delGAG	10.37:g.106022833_106022835delGAG	ENSP00000358727:p.Glu155del		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	In_Frame_Del	DEL	ENST00000369713.5	37	CCDS7555.1																																																																																				0.365	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		-	106022832	GAG	-	106022830	7	5	283	1	0	1	0	1	0	0	0	0	6844	943	33	0	474	0	GSTO1	10	106022830	In_Frame_Del	DEL	GAG	TCGA-B8-5165-01A-01D-1421-08		106022830	29511917	12	16941											
NPAT	4863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108040715	108040715	+	Silent	SNP	C	C	G			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr11:108040715C>G	ENST00000278612.8	-	14	2946	c.2841G>C	c.(2839-2841)ggG>ggC	p.G947G	NPAT_ENST00000610253.1_5'Flank	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	947					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G947G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CTGGGATCATCCCTACCATTC	0.388																																																1	Substitution - coding silent(1)	kidney(1)											122	115	117					11																	108040715		1888	4104	5992	SO:0001819	synonymous_variant	4863			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2841G>C	11.37:g.108040715C>G			A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	CCDS41710.1																																																																																				0.388	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		G	108040715	C	G	108040715	2	3	283	1	0	0	0	0	0	0	0	1	10568	842	30	4		4	NPAT	11	108040715	Silent	SNP	C	TCGA-B8-5165-01A-01D-1421-08		108040715	26965801	13	16942											
SLC37A4	51399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118897701	118897701	+	IGR	SNP	T	T	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr11:118897701T>C	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000545985.1_Missense_Mutation_p.T244A|SLC37A4_ENST00000330775.7_Missense_Mutation_p.T243A|SLC37A4_ENST00000538950.1_Missense_Mutation_p.T171A|SLC37A4_ENST00000357590.5_Missense_Mutation_p.T244A	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)		p.T243A(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CCCCAGTCAGTACAGCAGGTC	0.547																																																1	Substitution - Missense(1)	kidney(1)											55	56	56					11																	118897701		1964	4147	6111	SO:0001628	intergenic_variant	2542			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"Trafficking protein particle complex"	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118897701T>C			A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	CCDS8407.1																																																																																				0.547	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146		C	118897701	T	C	118897701	1	2	283	0	1	0	0	0	0	0	0	0	14606	1638	57	3		3	SLC37A4	11	118897701	IGR	SNP	T	TCGA-B8-5165-01A-01D-1421-08	10856986	118897701	16108815	14	16943											
SLC38A1	81539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46623010	46623010	+	Silent	SNP	T	T	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr12:46623010T>C	ENST00000398637.5	-	5	934	c.240A>G	c.(238-240)ctA>ctG	p.L80L	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Silent_p.L80L|SLC38A1_ENST00000552197.1_Silent_p.L80L|SLC38A1_ENST00000546893.1_Silent_p.L80L|SLC38A1_ENST00000549049.1_Silent_p.L80L	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	80					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.L80L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TGGCGTTGCTTAGGTTAAAAA	0.433																																																1	Substitution - coding silent(1)	kidney(1)											65	59	61					12																	46623010		1867	4113	5980	SO:0001819	synonymous_variant	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.240A>G	12.37:g.46623010T>C			Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	ENST00000398637.5	37	CCDS41774.1																																																																																				0.433	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			C	46623010	T	C	46623010	2	2	283	1	0	0	0	0	0	0	0	1	14607	1741	61	3		3	SLC38A1	12	46623010	Silent	SNP	T	TCGA-B8-5165-01A-01D-1421-08		46623010	87228885	15	16944											
KRT84	3890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52774232	52774232	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr12:52774232C>G	ENST00000257951.3	-	7	1405	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	447	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.E447Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGGTACTCGCACAGCTGC	0.632											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											58	53	55					12																	52774232		2203	4300	6503	SO:0001583	missense	3890			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1339G>C	12.37:g.52774232C>G	ENSP00000257951:p.Glu447Gln	987	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830510	0.91036	.	.	ENSG00000161849	ENST00000257951	D	0.93763	-3.28	4.94	4.94	0.65067	Filament (1);	0.000000	0.46442	D	0.000288	D	0.96380	0.8819	M	0.85542	2.76	0.50632	D	0.999885	D	0.59767	0.986	P	0.58210	0.835	D	0.96907	0.9664	10	0.72032	D	0.01	.	18.365	0.90388	0.0:1.0:0.0:0.0	.	447	Q9NSB2	KRT84_HUMAN	Q	447	ENSP00000257951:E447Q	ENSP00000257951:E447Q	E	-	1	0	KRT84	51060499	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	5.930000	0.70104	2.572000	0.86782	0.591000	0.81541	GAG		0.632	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		G	52774232	C	G	52774232	3	3	283	1	0	0	0	0	1	0	0	0	8500	893	31	4	475	4	KRT84	12	52774232	Missense_Mutation	SNP	C	TCGA-B8-5165-01A-01D-1421-08	6151222	52774232	81077663	16	16945											
ERBB3	2065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56495609	56495609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr12:56495609C>T	ENST00000267101.3	+	28	4239	c.3799C>T	c.(3799-3801)Cga>Tga	p.R1267*	PA2G4_ENST00000303305.6_5'Flank|PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000450146.2_Nonsense_Mutation_p.R624*|RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000549832.1_Nonsense_Mutation_p.R387*|ERBB3_ENST00000415288.2_Nonsense_Mutation_p.R1208*|ERBB3_ENST00000553131.1_Nonsense_Mutation_p.R508*	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1267					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)	p.R1267*(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAATCGGCAACGAGATGGAGG	0.552																																																1	Substitution - Nonsense(1)	kidney(1)											76	71	73					12																	56495609		2203	4300	6503	SO:0001587	stop_gained	2065			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.3799C>T	12.37:g.56495609C>T	ENSP00000267101:p.Arg1267*		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Nonsense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	39	7.634453	0.98403	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	.	.	.	5.82	4.88	0.63580	.	0.269330	0.31554	N	0.007444	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3328	0.74226	0.0:0.8597:0.1403:0.0	.	.	.	.	X	1267;624;1208;390;508;387	.	ENSP00000267101:R1267X	R	+	1	2	ERBB3	54781876	0.993000	0.37304	0.919000	0.36401	0.298000	0.27526	3.173000	0.50839	2.752000	0.94435	0.655000	0.94253	CGA		0.552	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			T	56495609	C	T	56495609	4	4	283	1	0	0	0	0	0	1	0	0	5210	528	19	1	4040	1	ERBB3	12	56495609	Nonsense_Mutation	SNP	C	TCGA-B8-5165-01A-01D-1421-08	3721377	56495609	77356286	17	16946											
LRRC37B	114659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30348328	30348328	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr17:30348328C>T	ENST00000341671.7	+	1	168	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F	LRRC37B_ENST00000584368.1_Missense_Mutation_p.L67F|LRRC37B_ENST00000394713.3_Missense_Mutation_p.L55F|LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000327564.7_Missense_Mutation_p.L82F	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	55						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.L55F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTCCTCCCATCTCCCATGGGA	0.642																																																1	Substitution - Missense(1)	kidney(1)											59	68	65					17																	30348328		2203	4300	6503	SO:0001583	missense	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.163C>T	17.37:g.30348328C>T	ENSP00000340519:p.Leu55Phe		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	10.75	1.438150	0.25900	.	.	ENSG00000185158	ENST00000327564;ENST00000394713;ENST00000341671	T;T;T	0.61859	0.07;1.17;0.07	1.93	0.877	0.19145	.	.	.	.	.	T	0.33847	0.0877	N	0.25647	0.755	0.09310	N	1	P;B	0.48407	0.91;0.064	B;B	0.32022	0.139;0.028	T	0.17107	-1.0380	9	0.52906	T	0.07	.	6.1948	0.20544	0.0:0.6799:0.3201:0.0	.	55;55	Q17RC9;Q96QE4	.;LR37B_HUMAN	F	82;55;55	ENSP00000332536:L82F;ENSP00000378202:L55F;ENSP00000340519:L55F	ENSP00000332536:L82F	L	+	1	0	LRRC37B	27372441	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-0.055000	0.11807	0.343000	0.23821	0.299000	0.19835	CTC		0.642	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		T	30348328	C	T	30348328	3	4	283	1	0	0	0	0	1	0	0	0	8996	913	32	2	165	2	LRRC37B	17	30348328	Missense_Mutation	SNP	C	TCGA-B8-5165-01A-01D-1421-08		30348328	50846882	18	16947											
DUSP14	11072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35872566	35872566	+	Silent	SNP	T	T	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr17:35872566T>C	ENST00000487847.1	+	2	1170	c.192T>C	c.(190-192)ccT>ccC	p.P64P	DUSP14_ENST00000394389.4_Silent_p.P64P|DUSP14_ENST00000394386.1_Silent_p.P64P			O95147	DUS14_HUMAN	dual specificity phosphatase 14	64					peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P64P(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TTGAGATCCCTAATTTCAACT	0.532																																																1	Substitution - coding silent(1)	kidney(1)											126	107	114					17																	35872566		2203	4300	6503	SO:0001819	synonymous_variant	11072			AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	17007	protein-coding gene	gene with protein product	"MKP-1 like protein tyrosine phosphatase"	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.192T>C	17.37:g.35872566T>C				Silent	SNP	ENST00000487847.1	37	CCDS11320.1																																																																																				0.532	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	NM_007026		C	35872566	T	C	35872566	2	2	283	1	0	0	0	0	0	0	0	1	4816	1509	53	3		3	DUSP14	17	35872566	Silent	SNP	T	TCGA-B8-5165-01A-01D-1421-08	5524238	35872566	45322644	19	16948											
ZC3H4	23211	broad.mit.edu	37	19	47588443	47588443	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr19:47588443C>A	ENST00000253048.5	-	8	1014	c.977G>T	c.(976-978)cGa>cTa	p.R326L	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	326	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R326L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCACGGCCTCGACTTAGCCC	0.647																																																1	Substitution - Missense(1)	kidney(1)											72	76	75					19																	47588443		1928	4122	6050	SO:0001583	missense	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.977G>T	19.37:g.47588443C>A	ENSP00000253048:p.Arg326Leu		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010536	0.35511	.	.	ENSG00000130749	ENST00000253048	T	0.19938	2.11	5.97	5.97	0.96955	.	0.550760	0.18629	N	0.135638	T	0.21468	0.0517	L	0.58101	1.795	0.53005	D	0.999962	P	0.35328	0.495	B	0.28553	0.091	T	0.01920	-1.1247	10	0.29301	T	0.29	.	14.6828	0.69031	0.1458:0.8542:0.0:0.0	.	326	Q9UPT8	ZC3H4_HUMAN	L	326	ENSP00000253048:R326L	ENSP00000253048:R326L	R	-	2	0	ZC3H4	52280283	0.995000	0.38212	0.996000	0.52242	0.861000	0.49209	4.647000	0.61418	2.838000	0.97847	0.561000	0.74099	CGA		0.647	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			A	47588443	C	A	47588443	3	1	283	1	0	0	0	0	1	0	0	0	17575	884	31	4	2966	4	ZC3H4	19	47588443	Missense_Mutation	SNP	C	TCGA-B8-5165-01A-01D-1421-08		47588443	11540540	20	16949											
SLC9A6	10479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135080323	135080323	+	Silent	SNP	T	T	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chrX:135080323T>C	ENST00000370698.3	+	3	521	c.486T>C	c.(484-486)taT>taC	p.Y162Y	SLC9A6_ENST00000370701.1_Silent_p.Y142Y|SLC9A6_ENST00000370695.4_Silent_p.Y194Y	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	162					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.Y162Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCATATTTTATGCAGGTTATA	0.313																																																1	Substitution - coding silent(1)	kidney(1)											68	70	69					X																	135080323		2202	4297	6499	SO:0001819	synonymous_variant	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.486T>C	X.37:g.135080323T>C			A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	ENST00000370698.3	37	CCDS14654.1																																																																																				0.313	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		C	135080323	T	C	135080323	2	2	283	1	0	0	0	0	0	0	0	1	14724	1471	51	3		3	SLC9A6	23	135080323	Silent	SNP	T	TCGA-B8-5165-01A-01D-1421-08		135080323	20190237	21	16950											
CELA3A	10136	hgsc.bcm.edu	37	1	22333988	22333988	+	Missense_Mutation	SNP	T	T	G	rs112024506	byFrequency	TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr1:22333988T>G	ENST00000290122.3	+	6	641	c.622T>G	c.(622-624)Tac>Gac	p.Y208D		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGCTGGAGGGTACATCCGCTC	0.622													T|||	13	0.00259585	0.0061	0.0043	5008	,	,		20803	0.001		0.0	False		,,,				2504	0.001															0													103	98	100					1																	22333988		2198	4300	6498	SO:0001583	missense	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.622T>G	1.37:g.22333988T>G	ENSP00000290122:p.Tyr208Asp		B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	CCDS220.1	.	.	.	.	.	.	.	.	.	.	T	4.658	0.122419	0.08931	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	D;D	0.88431	-2.38;-2.38	3.7	0.527	0.17084	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.62780	0.2456	N	0.00538	-1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.55198	-0.8178	9	0.02654	T	1	-8.4545	10.6282	0.45521	0.0:0.0:0.5023:0.4977	.	208	P09093	CEL3A_HUMAN	D	208;16	ENSP00000290122:Y208D;ENSP00000383130:Y16D	ENSP00000290122:Y208D	Y	+	1	0	CELA3A	22206575	0.836000	0.29430	0.002000	0.10522	0.026000	0.11368	3.363000	0.52321	-0.070000	0.12908	-0.827000	0.03088	TAC		0.622	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		G	22333988	T	G	22333988	3	3	284	1	0	0	0	0	1	0	0	0	3215	1638	57	5	644	5	CELA3A	1	22333988	Missense_Mutation	SNP	T	TCGA-B8-5545-01A-01D-1669-08		22333988	226916633	1	16951											
MAP4K3	8491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39519948	39519948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr2:39519948C>A	ENST00000263881.3	-	18	1561	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*	MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.E329*|MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.E392*|MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000474502.1_5'UTR	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	413					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E413*(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCATCATCTTCTAAATGTGCG	0.318																																																1	Substitution - Nonsense(1)	kidney(1)											156	162	160					2																	39519948		2203	4300	6503	SO:0001587	stop_gained	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1237G>T	2.37:g.39519948C>A	ENSP00000263881:p.Glu413*		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Nonsense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	38	7.069456	0.98040	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	.	.	.	5.42	5.42	0.78866	.	0.376422	0.32081	N	0.006615	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	19.5655	0.95391	0.0:1.0:0.0:0.0	.	.	.	.	X	413;329;392	.	ENSP00000263881:E413X	E	-	1	0	MAP4K3	39373452	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.690000	0.61731	2.691000	0.91804	0.591000	0.81541	GAA		0.318	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		A	39519948	C	A	39519948	4	1	284	1	0	0	0	0	0	1	0	0	9263	922	32	4	1515	4	MAP4K3	2	39519948	Nonsense_Mutation	SNP	C	TCGA-B8-5545-01A-01D-1669-08		39519948	203679425	2	16952											
SRGAP3	9901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9034602	9034602	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr3:9034602C>T	ENST00000383836.3	-	20	2973	c.2546G>A	c.(2545-2547)gGg>gAg	p.G849E	SRGAP3_ENST00000360413.3_Missense_Mutation_p.G825E	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	849					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.G849E(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCCCATCACCCCCCCAAAGCC	0.552			T	RAF1	pilocytic astrocytoma																																		Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	1	Substitution - Missense(1)	kidney(1)											85	81	82					3																	9034602		2203	4300	6503	SO:0001583	missense	9901			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2546G>A	3.37:g.9034602C>T	ENSP00000373347:p.Gly849Glu		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390298	0.82902	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.22945	1.93;2.34	5.17	5.17	0.71159	.	0.057605	0.64402	D	0.000001	T	0.36771	0.0979	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65443	0.935;0.863	T	0.05484	-1.0882	10	0.02654	T	1	.	18.2651	0.90050	0.0:1.0:0.0:0.0	.	825;849	O43295-2;O43295	.;SRGP2_HUMAN	E	849;825	ENSP00000373347:G849E;ENSP00000353587:G825E	ENSP00000353587:G825E	G	-	2	0	SRGAP3	9009602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.930000	0.56522	2.410000	0.81850	0.591000	0.81541	GGG		0.552	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			T	9034602	C	T	9034602	3	4	284	1	0	0	0	0	1	0	0	0	15152	623	22	2	765	2	SRGAP3	3	9034602	Missense_Mutation	SNP	C	TCGA-B8-5545-01A-01D-1669-08		9034602	188987828	3	16953											
PPARG	5468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	12422837	12422837	+	Silent	SNP	G	G	A			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr3:12422837G>A	ENST00000287820.6	+	3	448	c.327G>A	c.(325-327)gaG>gaA	p.E109E	PPARG_ENST00000309576.6_Silent_p.E81E|PPARG_ENST00000397010.2_Silent_p.E81E|PPARG_ENST00000397000.1_Silent_p.E81E|PPARG_ENST00000397015.2_Silent_p.E81E|PPARG_ENST00000539812.1_Silent_p.E79E|PPARG_ENST00000397012.2_Silent_p.E81E|PPARG_ENST00000397026.2_Silent_p.E87E	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	109					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E109E(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TCAAAGTGGAGCCTGCATCTC	0.453			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																																Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	1	Substitution - coding silent(1)	kidney(1)											67	63	64					3																	12422837		2203	4300	6503	SO:0001819	synonymous_variant	5468			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.327G>A	3.37:g.12422837G>A			A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	ENST00000287820.6	37	CCDS2609.1																																																																																				0.453	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		A	12422837	G	A	12422837	2	1	284	1	0	0	0	0	0	0	0	1	12301	962	34	2		2	PPARG	3	12422837	Silent	SNP	G	TCGA-B8-5545-01A-01D-1669-08	3388235	12422837	185599593	4	16954											
PPP2R2C	5522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	6349697	6349697	+	Silent	SNP	C	C	T			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr4:6349697C>T	ENST00000382599.4	-	6	882	c.666G>A	c.(664-666)acG>acA	p.T222T	PPP2R2C_ENST00000507294.1_Silent_p.T215T|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Silent_p.T205T|PPP2R2C_ENST00000335585.5_Silent_p.T222T|PPP2R2C_ENST00000506140.1_Silent_p.T215T			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	222					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.T222T(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGATCACCTCCGTAAGGTCCT	0.622																																																1	Substitution - coding silent(1)	kidney(1)											260	186	211					4																	6349697		2203	4300	6503	SO:0001819	synonymous_variant	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.666G>A	4.37:g.6349697C>T			A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37																																																																																					0.622	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		T	6349697	C	T	6349697	2	4	284	1	0	0	0	0	0	0	0	1	12391	639	23	1		1	PPP2R2C	4	6349697	Silent	SNP	C	TCGA-B8-5545-01A-01D-1669-08		6349697	184804579	5	16955											
NFXL1	152518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	47850290	47850290	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr4:47850290C>T	ENST00000507489.1	-	23	2802	c.2626G>A	c.(2626-2628)Gaa>Aaa	p.E876K	NFXL1_ENST00000381538.3_Missense_Mutation_p.E876K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	876						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)	p.E876K(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ACTGCCACTTCATCTCTTTTC	0.373																																																1	Substitution - Missense(1)	kidney(1)											171	159	163					4																	47850290		2203	4300	6503	SO:0001583	missense	152518			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.2626G>A	4.37:g.47850290C>T	ENSP00000422037:p.Glu876Lys		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711815	0.68730	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.23348	1.91;1.91	5.9	5.9	0.94986	.	0.078336	0.53938	D	0.000058	T	0.30572	0.0769	L	0.57536	1.79	0.80722	D	1	B	0.18863	0.031	B	0.11329	0.006	T	0.03148	-1.1067	10	0.30078	T	0.28	-15.4253	19.8812	0.96900	0.0:1.0:0.0:0.0	.	876	Q6ZNB6	NFXL1_HUMAN	K	876	ENSP00000370949:E876K;ENSP00000422037:E876K	ENSP00000370949:E876K	E	-	1	0	NFXL1	47545047	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.827000	0.69300	2.786000	0.95864	0.650000	0.86243	GAA		0.373	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		T	47850290	C	T	47850290	3	4	284	1	0	0	0	0	1	0	0	0	10390	835	29	2	113	2	NFXL1	4	47850290	Missense_Mutation	SNP	C	TCGA-B8-5545-01A-01D-1669-08	41500593	47850290	143303986	6	16956											
USO1	8615	hgsc.bcm.edu;ucsc.edu	37	4	76722353	76722353	+	Splice_Site	SNP	G	G	A	rs324726	byFrequency	TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr4:76722353G>A	ENST00000538159.1	+	18	2013	c.2013G>A	c.(2011-2013)caG>caA	p.Q671Q	USO1_ENST00000514213.2_Splice_Site_p.Q647Q			O60763	USO1_HUMAN	USO1 vesicle transport factor	662					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCGAGAGCAGGTAAGTACTA	0.338													A|||	3268	0.652556	0.3449	0.768	5008	,	,		17749	0.8859		0.7604	False		,,,				2504	0.635															0								A		1400,2288		284,832,728	78	70	72		1863	1.2	1	4	dbSNP_79	72	6089,2101		2272,1545,278	yes	coding-synonymous-near-splice	USO1	NM_003715.2		2556,2377,1006	AA,AG,GG		25.6532,37.961,36.9507		621/922	76722353	7489,4389	1844	4095	5939	SO:0001630	splice_region_variant	8615			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2013+1G>A	4.37:g.76722353G>A			B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37		1547	0.7083333333333334	167	0.3394308943089431	286	0.7900552486187845	514	0.8986013986013986	580	0.7651715039577837	A	10.02	1.235310	0.22626	0.37961	0.743468	ENSG00000138768	ENST00000441296	.	.	.	5.61	1.24	0.21308	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.23404	-1.0189	3	.	.	.	.	14.5499	0.68059	0.1641:0.0:0.8359:0.0	rs324726;rs1802533;rs11566527;rs13150865;rs17000888;rs324726	.	.	.	K	338	.	.	R	+	2	0	USO1	76941377	1.000000	0.71417	0.956000	0.39512	0.876000	0.50452	2.553000	0.45837	-0.361000	0.08125	-0.360000	0.07572	AGG		0.338	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715	Silent	A	76722353	G	A	76722353	5	1	284	1	0	0	0	0	0	0	1	0	17044	1014	35	2	1893	2	USO1	4	76722353	Splice_Site	SNP	G	TCGA-B8-5545-01A-01D-1669-08	28872063	76722353	114431923	7	16957											
BMP2K	55589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	79832708	79832708	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr4:79832708A>G	ENST00000335016.5	+	16	3173	c.3007A>G	c.(3007-3009)Agc>Ggc	p.S1003G	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1003					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.S1003G(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CACGCCAACTAGCACAAAGAA	0.498																																																1	Substitution - Missense(1)	kidney(1)											69	68	68					4																	79832708		1943	4146	6089	SO:0001583	missense	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.3007A>G	4.37:g.79832708A>G	ENSP00000334836:p.Ser1003Gly		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.41|11.41	1.629475|1.629475	0.28978|0.28978	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000335016|ENST00000502613	T|.	0.42900|.	0.96|.	5.41|5.41	4.23|4.23	0.50019|0.50019	.|.	0.402320|.	0.26255|.	N|.	0.025437|.	T|.	0.43456|.	0.1248|.	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.20174|.	-1.0283|.	10|.	0.16896|.	T|.	0.51|.	-2.3558|-2.3558	9.4132|9.4132	0.38505|0.38505	0.847:0.0:0.153:0.0|0.847:0.0:0.153:0.0	.|.	1003|.	Q9NSY1|.	BMP2K_HUMAN|.	G|W	1003|695	ENSP00000334836:S1003G|.	ENSP00000334836:S1003G|.	S|X	+|+	1|2	0|0	BMP2K|BMP2K	80051732|80051732	0.998000|0.998000	0.40836|0.40836	0.122000|0.122000	0.21767|0.21767	0.676000|0.676000	0.39594|0.39594	3.724000|3.724000	0.54962|0.54962	0.891000|0.891000	0.36235|0.36235	0.397000|0.397000	0.26171|0.26171	AGC|TAG		0.498	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		G	79832708	A	G	79832708	3	3	284	1	0	0	0	0	1	0	0	0	1460	420	15	3	3107	3	BMP2K	4	79832708	Missense_Mutation	SNP	A	TCGA-B8-5545-01A-01D-1669-08	3110355	79832708	111321568	8	16958											
GMPR	2766	hgsc.bcm.edu	37	6	16295417	16295418	+	Stop_Codon_Ins	INS	-	-	C	rs201015786	byFrequency	TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr6:16295417_16295418insC	ENST00000259727.4	+	0	1152_1153				GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase						nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TGTTCAGCTAACCCTGGGGACA	0.599													CCC|CCC|CCCC|insertion	34	0.00678914	0.0242	0.0029	5008	,	,		17263	0.0		0.0	False		,,,				2504	0.0															0										102,4162		0,102,2030						4.7	0.9			62	2,8252		0,2,4125	no	frameshift	GMPR	NM_006877.3		0,104,6155	A1A1,A1R,RR		0.0242,2.3921,0.8308				104,12414				SO:0001567	stop_retained_variant	2766				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.1038dupC	6.37:g.16295420_16295420dupC			Q96HQ6	Frame_Shift_Ins	INS	ENST00000259727.4	37	CCDS4537.1																																																																																				0.599	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			C	16295418	-	C	16295417	7	5	284	1	0	1	1	0	0	0	0	0	6498	50	2	0	1072	0	GMPR	6	16295417	Stop_Codon_Ins	INS	-	TCGA-B8-5545-01A-01D-1669-08		16295417	154819650	9	16959											
CASP8AP2	9994	hgsc.bcm.edu;ucsc.edu	37	6	90577024	90577035	+	RNA	DEL	AAGACTCCAGAG	AAGACTCCAGAG	-	rs78396072|rs369180336		TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	AAGACTCCAGAG	AAGACTCCAGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr6:90577024_90577035delAAGACTCCAGAG	ENST00000551025.1	+	0	5452_5463									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTGGGAGTTAAAGACTCCAGAGAAGCAGCTGC	0.41																																					Colon(187;1656 2025 17045 31481 39901)											0																																												9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577024_90577035delAAGACTCCAGAG				In_Frame_Del	DEL	ENST00000551025.1	37																																																																																					0.41	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		-	90577035	AAGACTCCAGAG	-	90577024	6	5	284	0	1	1	0	1	0	0	0	0	2680	15	1	0		0	CASP8AP2	6	90577024	RNA	DEL	AAGACTCCAGAG	TCGA-B8-5545-01A-01D-1669-08	74281607	90577024	80538043	10	16960											
GLI3	2737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	42116424	42116424	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr7:42116424G>A	ENST00000395925.3	-	4	484	c.400C>T	c.(400-402)Cct>Tct	p.P134S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	134					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P134S(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTGGTACAGGAGGATGGAAG	0.418									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							1	Substitution - Missense(1)	kidney(1)											139	119	126					7																	42116424		2203	4300	6503	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.400C>T	7.37:g.42116424G>A	ENSP00000379258:p.Pro134Ser		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843200	0.91197	.	.	ENSG00000106571	ENST00000395925;ENST00000448703	T;T	0.75821	-0.97;-0.97	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.86091	0.5850	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86392	0.1736	10	0.87932	D	0	.	20.0781	0.97751	0.0:0.0:1.0:0.0	.	134	P10071	GLI3_HUMAN	S	134	ENSP00000379258:P134S;ENSP00000406135:P134S	ENSP00000379258:P134S	P	-	1	0	GLI3	42082949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.174000	0.94824	2.817000	0.96982	0.563000	0.77884	CCT		0.418	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		A	42116424	G	A	42116424	3	1	284	1	0	0	0	0	1	0	0	0	6441	1174	41	2	4390	2	GLI3	7	42116424	Missense_Mutation	SNP	G	TCGA-B8-5545-01A-01D-1669-08		42116424	117022239	11	16961											
TCEB1	6921	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	74858967	74858968	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	G|T	G|T	G|T	T|A	G|T	G|T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr8:74858967_74858968GT>TA	ENST00000522337.1	-	5	555_556	c.236_237AC>TA	c.(235-237)tAC>tTA	p.Y79L	TCEB1_ENST00000523815.1_Missense_Mutation_p.Y79L|TCEB1_ENST00000520242.1_Missense_Mutation_p.Y79L|TCEB1_ENST00000518127.1_Missense_Mutation_p.Y79L|TCEB1_ENST00000520210.1_Missense_Mutation_p.Y63L|TCEB1_ENST00000284811.8_Missense_Mutation_p.Y79L|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000519487.1_Missense_Mutation_p.Y79L			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	79					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.Y79F(1)|p.Y79L(1)|p.Y79*(1)		endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			AGCGAACCTTGTACGTAAAATA	0.411																																																3	Substitution - Missense(2)|Substitution - Nonsense(1)	kidney(3)																																								SO:0001583	missense	6921			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.236_237delinsTA	8.37:g.74858967_74858968delinsTA	ENSP00000429906:p.Tyr79Leu		E5RGD9|Q567Q6	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000522337.1	37	CCDS34910.1																																																																																				0.411	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		TA	74858968	GT	TA	74858967	3	4	284	1	0	0	0	0	1	0	0	0	15684	1372	48	4	105	4	TCEB1	8	74858967	Missense_Mutation	DNP	GT	TCGA-B8-5545-01A-01D-1669-08		74858967	71505055	12	16962											
IARS	3376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95012199	95012199	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr9:95012199T>A	ENST00000375643.3	-	25	2823	c.2557A>T	c.(2557-2559)Atc>Ttc	p.I853F	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.I853F|IARS_ENST00000447699.2_Missense_Mutation_p.I743F	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	853					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.I853F(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TCTTGATGGATAACCACAATT	0.368																																																1	Substitution - Missense(1)	kidney(1)											122	130	127					9																	95012199		2203	4299	6502	SO:0001583	missense	3376			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2557A>T	9.37:g.95012199T>A	ENSP00000364794:p.Ile853Phe		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.719535	0.89205	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000449893	T;T;T	0.11277	2.79;2.79;2.79	5.88	5.88	0.94601	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	M	0.74258	2.255	0.80722	D	1	P;B;D	0.71674	0.815;0.353;0.998	P;B;D	0.70487	0.755;0.11;0.969	T	0.02167	-1.1202	10	0.46703	T	0.11	-22.1945	15.9512	0.79840	0.0:0.0:0.0:1.0	.	363;853;698	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	F	853;853;743;853;85	ENSP00000364794:I853F;ENSP00000406448:I853F;ENSP00000415020:I743F	ENSP00000364794:I853F	I	-	1	0	IARS	94052020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.513000	0.81739	2.250000	0.74265	0.482000	0.46254	ATC		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		A	95012199	T	A	95012199	3	1	284	1	0	0	0	0	1	0	0	0	7475	1406	49	5	1271	5	IARS	9	95012199	Missense_Mutation	SNP	T	TCGA-B8-5545-01A-01D-1669-08		95012199	46201232	13	16963	132	2									
IARS	3376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95012201	95012201	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr9:95012201A>G	ENST00000375643.3	-	25	2821	c.2555T>C	c.(2554-2556)gTt>gCt	p.V852A	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.V852A|IARS_ENST00000447699.2_Missense_Mutation_p.V742A	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	852					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.V852A(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TTGATGGATAACCACAATTTC	0.368																																																1	Substitution - Missense(1)	kidney(1)											120	128	125					9																	95012201		2203	4299	6502	SO:0001583	missense	3376			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2555T>C	9.37:g.95012201A>G	ENSP00000364794:p.Val852Ala		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	A	32	5.165010	0.94727	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000449893	T;T;T	0.13657	2.57;2.57;2.57	5.88	5.88	0.94601	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.051556	0.85682	D	0.000000	T	0.48466	0.1501	M	0.92923	3.36	0.80722	D	1	D;P;D	0.89917	1.0;0.93;0.965	D;P;P	0.85130	0.997;0.768;0.893	T	0.60586	-0.7234	10	0.72032	D	0.01	-18.0247	15.9512	0.79840	1.0:0.0:0.0:0.0	.	362;852;697	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	A	852;852;742;852;84	ENSP00000364794:V852A;ENSP00000406448:V852A;ENSP00000415020:V742A	ENSP00000364794:V852A	V	-	2	0	IARS	94052022	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.739000	0.91574	2.250000	0.74265	0.482000	0.46254	GTT		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		G	95012201	A	G	95012201	3	3	284	1	0	0	0	0	1	0	0	0	7475	43	2	3	1273	3	IARS	9	95012201	Missense_Mutation	SNP	A	TCGA-B8-5545-01A-01D-1669-08	2	95012201	46201230	14	16964	132	2									
CUBN	8029	broad.mit.edu	37	10	16919092	16919092	+	Silent	SNP	A	A	G			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr10:16919092A>G	ENST00000377833.4	-	57	8975	c.8910T>C	c.(8908-8910)cgT>cgC	p.R2970R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2970	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R2970R(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACAGCGGAACGAGCTGGAA	0.453																																																1	Substitution - coding silent(1)	kidney(1)											62	48	53					10																	16919092		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8910T>C	10.37:g.16919092A>G			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	16919092	A	G	16919092	2	3	284	1	0	0	0	0	0	0	0	1	4053	30	2	3		3	CUBN	10	16919092	Silent	SNP	A	TCGA-B8-5545-01A-01D-1669-08		16919092	118615655	15	16965											
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61835269	61835269	+	Silent	SNP	C	C	T			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr10:61835269C>T	ENST00000280772.2	-	37	5561	c.5370G>A	c.(5368-5370)caG>caA	p.Q1790Q	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1790	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q1790H(1)|p.Q1790Q(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTAGAGACTGAAAAGCTG	0.453																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											111	119	116					10																	61835269		2203	4299	6502	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5370G>A	10.37:g.61835269C>T			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61835269	C	T	61835269	2	4	284	1	0	0	0	0	0	0	0	1	622	564	20	2		2	ANK3	10	61835269	Silent	SNP	C	TCGA-B8-5545-01A-01D-1669-08	44916177	61835269	73699478	16	16966											
COL17A1	1308	hgsc.bcm.edu	37	10	105816869	105816895	+	In_Frame_Del	DEL	GCCACCAACACCGCCACCTCCTCCACT	GCCACCAACACCGCCACCTCCTCCACT	-	rs61731082|rs375759161|rs139463731|rs150527933|rs114051272|rs566545663|rs200949191|rs567037420|rs805697	byFrequency	TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	GCCACCAACACCGCCACCTCCTCCACT	GCCACCAACACCGCCACCTCCTCCACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr10:105816869_105816895delGCCACCAACACCGCCACCTCCTCCACT	ENST00000353479.5	-	17	1593_1619	c.1303_1329delAGTGGAGGAGGTGGCGGTGTTGGTGGC	c.(1303-1329)agtggaggaggtggcggtgttggtggcdel	p.SGGGGGVGG435del	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_In_Frame_Del_p.SGGGGGVGG435del	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	435	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		cgccgccagcgccaccaacaccgccacctcctccactgccaccacca	0.639														87	0.0173722	0.0643	0.0029	5008	,	,		20639	0.0		0.0	False		,,,				2504	0.0															0										216,4044		11,194,1925						0.7	0			35	3,8251		0,3,4124	no	coding	COL17A1	NM_000494.3		11,197,6049	A1A1,A1R,RR		0.0363,5.0704,1.75				219,12295				SO:0001651	inframe_deletion	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1303_1329delAGTGGAGGAGGTGGCGGTGTTGGTGGC	10.37:g.105816869_105816895delGCCACCAACACCGCCACCTCCTCCACT	ENSP00000340937:p.Ser435_Gly443del		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	In_Frame_Del	DEL	ENST00000353479.5	37	CCDS7554.1																																																																																				0.639	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		-	105816895	GCCACCAACACCGCCACCTCCTCCACT	-	105816869	7	5	284	1	0	1	0	1	0	0	0	0	3676	1074	38	0	3324	0	COL17A1	10	105816869	In_Frame_Del	DEL	GCCACCAACACCGCCACCTCCTCCACT	TCGA-B8-5545-01A-01D-1669-08	43981600	105816869	29717878	17	16967											
LGR4	55366	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	27390552	27390552	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr11:27390552G>A	ENST00000379214.4	-	18	2161	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	LGR4_ENST00000389858.4_Missense_Mutation_p.S549F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	573					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.S573F(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAACAATTTGGACGAAGGCAG	0.378																																																1	Substitution - Missense(1)	kidney(1)											79	78	78					11																	27390552		2202	4299	6501	SO:0001583	missense	55366			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1718C>T	11.37:g.27390552G>A	ENSP00000368516:p.Ser573Phe		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349799	0.41599	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	D;D	0.85773	-2.03;-2.03	5.9	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.113777	0.64402	D	0.000008	D	0.84120	0.5402	L	0.40543	1.245	0.80722	D	1	P;P	0.46784	0.812;0.884	P;P	0.48030	0.465;0.564	D	0.85321	0.1084	10	0.56958	D	0.05	.	16.2511	0.82489	0.0:0.244:0.756:0.0	.	549;573	G5E9B3;Q9BXB1	.;LGR4_HUMAN	F	573;549	ENSP00000368516:S573F;ENSP00000374508:S549F	ENSP00000368516:S573F	S	-	2	0	LGR4	27347128	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	5.621000	0.67743	2.797000	0.96272	0.650000	0.86243	TCC		0.378	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		A	27390552	G	A	27390552	3	1	284	1	0	0	0	0	1	0	0	0	8758	1174	41	2	1141	2	LGR4	11	27390552	Missense_Mutation	SNP	G	TCGA-B8-5545-01A-01D-1669-08		27390552	107615964	18	16968											
SLITRK6	84189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	86370304	86370304	+	Silent	SNP	G	G	A			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr13:86370304G>A	ENST00000400286.2	-	2	938	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	114					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.L114L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGTTGTTTCAGGAGGCCAAGG	0.358																																																1	Substitution - coding silent(1)	kidney(1)											126	117	120					13																	86370304		1840	4088	5928	SO:0001819	synonymous_variant	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.340C>T	13.37:g.86370304G>A			A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	CCDS41903.1																																																																																				0.358	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		A	86370304	G	A	86370304	2	1	284	1	0	0	0	0	0	0	0	1	14753	991	35	2		2	SLITRK6	13	86370304	Silent	SNP	G	TCGA-B8-5545-01A-01D-1669-08		86370304	28799574	19	16969											
YLPM1	56252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75230960	75230960	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr14:75230960T>G	ENST00000552421.1	+	1	892	c.768T>G	c.(766-768)aaT>aaG	p.N256K	YLPM1_ENST00000325680.7_Missense_Mutation_p.N256K|YLPM1_ENST00000238571.3_Missense_Mutation_p.N256K			P49750	YLPM1_HUMAN	YLP motif containing 1	256					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.N256K(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCCCTGGAAATAAGACAACTG	0.572																																																2	Substitution - Missense(2)	kidney(2)											58	62	61					14																	75230960		1893	4121	6014	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.768T>G	14.37:g.75230960T>G	ENSP00000447921:p.Asn256Lys		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	T	1.537	-0.542820	0.04053	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.21191	2.02;2.02;2.02	4.31	3.15	0.36227	.	0.527792	0.17390	N	0.175967	T	0.07548	0.0190	N	0.08118	0	0.19575	N	0.999969	B	0.11235	0.004	B	0.14023	0.01	T	0.35847	-0.9772	10	0.09843	T	0.71	-2.0835	2.6731	0.05073	0.2273:0.1257:0.0:0.647	.	256	P49750-4	.	K	256	ENSP00000447921:N256K;ENSP00000324463:N256K;ENSP00000238571:N256K	ENSP00000238571:N256K	N	+	3	2	YLPM1	74300713	0.998000	0.40836	1.000000	0.80357	0.009000	0.06853	0.717000	0.25851	1.801000	0.52704	0.533000	0.62120	AAT		0.572	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		G	75230960	T	G	75230960	3	3	284	1	0	0	0	0	1	0	0	0	17491	1403	49	5	770	5	YLPM1	14	75230960	Missense_Mutation	SNP	T	TCGA-B8-5545-01A-01D-1669-08		75230960	32118580	20	16970											
TP53BP1	7158	hgsc.bcm.edu;ucsc.edu	37	15	43712740	43712741	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr15:43712740_43712741delAG	ENST00000263801.3	-	21	4680_4681	c.4428_4429delCT	c.(4426-4431)ggcttafs	p.L1477fs	TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.L1482fs|TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.L1482fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.L1432fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1477					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGGCATCTAAGCCATCAGAAG	0.515								Other conserved DNA damage response genes																																								0																																										SO:0001589	frameshift_variant	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4428_4429delCT	15.37:g.43712740_43712741delAG	ENSP00000263801:p.Leu1477fs		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Del	DEL	ENST00000263801.3	37	CCDS10096.1																																																																																				0.515	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			-	43712741	AG	-	43712740	7	5	284	1	0	1	0	1	0	0	0	0	16388	69	3	0	1521	0	TP53BP1	15	43712740	Frame_Shift_Del	DEL	AG	TCGA-B8-5545-01A-01D-1669-08		43712740	58818652	21	16971											
ATPAF2	91647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	17929649	17929649	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr17:17929649C>T	ENST00000474627.3	-	4	560	c.406G>A	c.(406-408)Gac>Aac	p.D136N	ATPAF2_ENST00000469327.1_5'Flank|ATPAF2_ENST00000585101.1_Missense_Mutation_p.G87E	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	136					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)		p.D136N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GTGTCGGTGTCCAGAAACTTC	0.463																																																1	Substitution - Missense(1)	kidney(1)											229	180	196					17																	17929649		2203	4300	6503	SO:0001583	missense	91647			AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"Mitochondrial respiratory chain complex assembly factors"	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.406G>A	17.37:g.17929649C>T	ENSP00000417190:p.Asp136Asn		A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	ENST00000474627.3	37	CCDS32585.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193801	0.58017	.	.	ENSG00000171953	ENST00000474627;ENST00000444058	T;T	0.78126	-1.15;-1.15	5.85	5.85	0.93711	ATPase assembly, ATP12, domain (1);	0.041576	0.85682	D	0.000000	D	0.82935	0.5145	L	0.36672	1.1	0.58432	D	0.999999	D	0.63880	0.993	D	0.63113	0.911	T	0.81512	-0.0899	10	0.42905	T	0.14	-3.9253	20.1616	0.98135	0.0:1.0:0.0:0.0	.	136	Q8N5M1	ATPF2_HUMAN	N	136	ENSP00000417190:D136N;ENSP00000397198:D136N	ENSP00000434980:D136N	D	-	1	0	ATPAF2	17870374	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.725000	0.84808	2.772000	0.95346	0.655000	0.94253	GAC		0.463	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		T	17929649	C	T	17929649	3	4	284	1	0	0	0	0	1	0	0	0	1201	855	30	2	483	2	ATPAF2	17	17929649	Missense_Mutation	SNP	C	TCGA-B8-5545-01A-01D-1669-08		17929649	63265561	22	16972											
SETBP1	26040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	42531246	42531246	+	Silent	SNP	A	A	G			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr18:42531246A>G	ENST00000282030.5	+	4	2237	c.1941A>G	c.(1939-1941)aaA>aaG	p.K647K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	647						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K593K(1)|p.K647K(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCGAGATGAAATTTCACAAGA	0.448									Schinzel-Giedion syndrome																																							2	Substitution - coding silent(2)	kidney(2)											53	46	48					18																	42531246		2187	4267	6454	SO:0001819	synonymous_variant	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1941A>G	18.37:g.42531246A>G			A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	CCDS11923.2																																																																																				0.448	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		G	42531246	A	G	42531246	2	3	284	1	0	0	0	0	0	0	0	1	14135	98	4	3		3	SETBP1	18	42531246	Silent	SNP	A	TCGA-B8-5545-01A-01D-1669-08		42531246	35546002	23	16973											
MBP	4155	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	74728852	74728852	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chr18:74728852A>G	ENST00000397869.3	-	1	159	c.113T>C	c.(112-114)aTc>aCc	p.I38T	MBP_ENST00000359645.3_Missense_Mutation_p.I38T|MBP_ENST00000487778.1_5'Flank|MBP_ENST00000382582.3_Missense_Mutation_p.I38T|MBP_ENST00000354542.4_Missense_Mutation_p.I38T|MBP_ENST00000397866.4_Missense_Mutation_p.I38T|MBP_ENST00000579129.1_Missense_Mutation_p.I171T|MBP_ENST00000526111.1_Missense_Mutation_p.I16T|MBP_ENST00000580402.1_Missense_Mutation_p.I171T|MBP_ENST00000397863.1_Missense_Mutation_p.I171T|MBP_ENST00000355994.2_Missense_Mutation_p.I171T|MBP_ENST00000397865.5_Missense_Mutation_p.I38T|MBP_ENST00000397860.3_Missense_Mutation_p.I171T|MBP_ENST00000528160.1_Intron|MBP_ENST00000578193.1_Missense_Mutation_p.I38T|MBP_ENST00000527041.1_Missense_Mutation_p.I38T|MBP_ENST00000397875.3_Missense_Mutation_p.I38T			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.I171T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GGAGTCAAGGATGCCCGTGTC	0.582																																					NSCLC(17;72 1131 19392)											1	Substitution - Missense(1)	kidney(1)											85	72	77					18																	74728852		2203	4300	6503	SO:0001583	missense	4155				CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.113T>C	18.37:g.74728852A>G	ENSP00000380967:p.Ile38Thr		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	37		.	.	.	.	.	.	.	.	.	.	A	24.7	4.556444	0.86231	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000527041;ENST00000359645;ENST00000397869;ENST00000354542;ENST00000526111;ENST00000397868;ENST00000498683;ENST00000397863;ENST00000397860	.	.	.	5.22	5.22	0.72569	.	0.425516	0.23935	N	0.043102	T	0.69975	0.3171	L	0.47716	1.5	0.37317	D	0.909379	D;D;D;P;P;P	0.63046	0.992;0.987;0.992;0.846;0.848;0.848	D;D;P;B;P;P	0.72982	0.93;0.979;0.743;0.332;0.614;0.772	T	0.76225	-0.3037	9	0.72032	D	0.01	-17.5991	15.1357	0.72562	1.0:0.0:0.0:0.0	.	38;171;171;38;38;38	B7Z3Y6;P02686;P02686-2;P02686-6;P02686-4;P02686-3	.;MBP_HUMAN;.;.;.;.	T	38;171;38;38;38;38;38;38;38;16;38;38;171;171	.	ENSP00000346545:I38T	I	-	2	0	MBP	72857840	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.481000	0.73608	1.971000	0.57363	0.533000	0.62120	ATC		0.582	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		G	74728852	A	G	74728852	3	3	284	1	0	0	0	0	1	0	0	0	9361	333	12	3	526	3	MBP	18	74728852	Missense_Mutation	SNP	A	TCGA-B8-5545-01A-01D-1669-08	32197606	74728852	3348396	24	16974											
FGD1	2245	broad.mit.edu	37	X	54475272	54475272	+	Silent	SNP	C	C	T			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chrX:54475272C>T	ENST00000375135.3	-	16	3136	c.2403G>A	c.(2401-2403)caG>caA	p.Q801Q		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	801					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.Q801Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGGTGTATGCTGGCTGCAGG	0.612																																																1	Substitution - coding silent(1)	kidney(1)											53	44	47					X																	54475272		2203	4300	6503	SO:0001819	synonymous_variant	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2403G>A	X.37:g.54475272C>T			Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	CCDS14359.1																																																																																				0.612	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		T	54475272	C	T	54475272	2	4	284	1	0	0	0	0	0	0	0	1	5834	796	28	2		2	FGD1	23	54475272	Silent	SNP	C	TCGA-B8-5545-01A-01D-1669-08		54475272	100795288	25	16975											
BCORL1	63035	hgsc.bcm.edu	37	X	129149054	129149054	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5545-01A-01D-1669-08	TCGA-B8-5545-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	514d2342-64ba-4c9f-9866-63bdbc26fda3	887f29fa-dc06-49d0-8b25-00dbdc7016a6	g.chrX:129149054A>G	ENST00000218147.7	+	4	2503	c.2306A>G	c.(2305-2307)aAg>aGg	p.K769R	BCORL1_ENST00000303743.5_Missense_Mutation_p.K769R|BCORL1_ENST00000540052.1_Missense_Mutation_p.K769R|BCORL1_ENST00000359304.2_Missense_Mutation_p.K769R			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	769					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGTGGCAAAAAGGGCAGCCAG	0.607																																																0													57	51	53					X																	129149054		2203	4300	6503	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2306A>G	X.37:g.129149054A>G	ENSP00000218147:p.Lys769Arg		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873390	0.51695	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.67345	-0.21;0.23;-0.26;-0.21;0.31	5.06	5.06	0.68205	.	0.000000	0.38492	N	0.001676	T	0.69637	0.3133	L	0.27053	0.805	0.44417	D	0.997339	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.985	T	0.65776	-0.6086	10	0.19590	T	0.45	-15.2748	13.9737	0.64257	1.0:0.0:0.0:0.0	.	769;769	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	R	769;769;769;769;369	ENSP00000218147:K769R;ENSP00000307541:K769R;ENSP00000352253:K769R;ENSP00000437775:K769R;ENSP00000399483:K369R	ENSP00000218147:K769R	K	+	2	0	BCORL1	128976735	1.000000	0.71417	0.998000	0.56505	0.673000	0.39480	7.700000	0.84556	1.676000	0.50930	0.356000	0.21956	AAG		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		G	129149054	A	G	129149054	3	3	284	1	0	0	0	0	1	0	0	0	1387	72	3	3	2316	3	BCORL1	23	129149054	Missense_Mutation	SNP	A	TCGA-B8-5545-01A-01D-1669-08	74673782	129149054	26121506	26	16976											
FAM131C	348487	hgsc.bcm.edu	37	1	16386008	16386008	+	Silent	SNP	T	T	C	rs2863452	byFrequency	TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr1:16386008T>C	ENST00000375662.4	-	6	726	c.543A>G	c.(541-543)caA>caG	p.Q181Q	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	181										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGACGATGCCTTGGGGGCTGT	0.642													C|||	3614	0.721645	0.5061	0.7709	5008	,	,		13138	0.8343		0.7654	False		,,,				2504	0.817															0													28	25	26					1																	16386008		1930	4122	6052	SO:0001819	synonymous_variant	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.543A>G	1.37:g.16386008T>C			Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	CCDS41270.1																																																																																				0.642	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		C	16386008	T	C	16386008	2	2	285	1	0	0	0	0	0	0	0	1	5443	1606	56	3		3	FAM131C	1	16386008	Silent	SNP	T	TCGA-B8-5546-01A-01D-1534-10		16386008	232864613	1	16977											
TGFBRAP1	9392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	105915065	105915065	+	Silent	SNP	C	C	T			TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr2:105915065C>T	ENST00000393359.2	-	3	1212	c.786G>A	c.(784-786)gcG>gcA	p.A262A	TGFBRAP1_ENST00000258449.1_Silent_p.A262A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	262	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.A262A(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CGTCATCGAGCGCTATGACGT	0.542																																					Esophageal Squamous(183;794 2019 9730 21801 48859)											1	Substitution - coding silent(1)	kidney(1)											106	96	99					2																	105915065		2203	4300	6503	SO:0001819	synonymous_variant	9392			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.786G>A	2.37:g.105915065C>T			A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	CCDS2067.1																																																																																				0.542	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		T	105915065	C	T	105915065	2	4	285	1	0	0	0	0	0	0	0	1	15829	755	27	1		1	TGFBRAP1	2	105915065	Silent	SNP	C	TCGA-B8-5546-01A-01D-1534-10		105915065	137284308	2	16978											
STEAP3	55240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	120012306	120012306	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr2:120012306G>A	ENST00000354888.5	+	5	1571	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	STEAP3_ENST00000450943.2_Missense_Mutation_p.R356Q|STEAP3_ENST00000393110.2_Missense_Mutation_p.R366Q|STEAP3_ENST00000393108.2_Missense_Mutation_p.R356Q|STEAP3_ENST00000393106.2_Missense_Mutation_p.R356Q|STEAP3_ENST00000425223.2_Missense_Mutation_p.R356Q|STEAP3_ENST00000409811.1_Missense_Mutation_p.R356Q|STEAP3_ENST00000393107.2_Missense_Mutation_p.R356Q	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	356	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.R356Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GAGGTCTGGCGGATGGAGATC	0.607																																																1	Substitution - Missense(1)	kidney(1)											122	109	114					2																	120012306		2203	4300	6503	SO:0001583	missense	55240			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.1067G>A	2.37:g.120012306G>A	ENSP00000346961:p.Arg356Gln		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046299	0.93740	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	5.29	5.29	0.74685	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.94843	0.8334	M	0.71206	2.165	0.47123	D	0.999327	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.946	D	0.94080	0.7343	9	.	.	.	-34.8103	18.0968	0.89493	0.0:0.0:1.0:0.0	.	356;366;356	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	Q	356;356;356;366;356;356;356;356	ENSP00000376820:R356Q;ENSP00000346961:R356Q;ENSP00000396873:R356Q;ENSP00000376822:R366Q;ENSP00000376818:R356Q;ENSP00000386510:R356Q;ENSP00000376819:R356Q;ENSP00000396214:R356Q	.	R	+	2	0	STEAP3	119728776	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.647000	0.74354	2.756000	0.94617	0.561000	0.74099	CGG		0.607	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		A	120012306	G	A	120012306	3	1	285	1	0	0	0	0	1	0	0	0	15284	1116	39	1	1111	1	STEAP3	2	120012306	Missense_Mutation	SNP	G	TCGA-B8-5546-01A-01D-1534-10	14097241	120012306	123187067	3	16979											
CD200R1	131450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	112647851	112647851	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr3:112647851G>A	ENST00000471858.1	-	4	744	c.512C>T	c.(511-513)gCa>gTa	p.A171V	CD200R1_ENST00000308611.3_Missense_Mutation_p.A194V|CD200R1_ENST00000295863.4_Missense_Mutation_p.A149V|CD200R1_ENST00000490004.1_3'UTR|CD200R1_ENST00000440122.2_3'UTR	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	171	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.A194V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGGCTTCCCTGCAACTGCCTT	0.478																																																1	Substitution - Missense(1)	kidney(1)											92	79	83					3																	112647851		2203	4300	6503	SO:0001583	missense	131450			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.512C>T	3.37:g.112647851G>A	ENSP00000418928:p.Ala171Val		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805248	0.50315	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863	T;T;T	0.44881	0.91;0.91;6.22	5.43	4.55	0.56014	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.389670	0.24762	N	0.035802	T	0.55289	0.1911	M	0.68317	2.08	0.80722	D	1	P;D;D	0.61697	0.932;0.99;0.987	P;P;P	0.61328	0.725;0.887;0.82	T	0.50558	-0.8814	10	0.32370	T	0.25	.	10.7456	0.46179	0.0892:0.0:0.9108:0.0	.	149;171;194	B4E2U2;Q8TD46;Q8TD46-4	.;MO2R1_HUMAN;.	V	171;194;149	ENSP00000418928:A171V;ENSP00000311035:A194V;ENSP00000295863:A149V	ENSP00000295863:A149V	A	-	2	0	CD200R1	114130541	0.042000	0.20092	0.945000	0.38365	0.542000	0.35054	0.940000	0.28992	2.538000	0.85594	0.650000	0.86243	GCA		0.478	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		A	112647851	G	A	112647851	3	1	285	1	0	0	0	0	1	0	0	0	2983	1319	46	2	481	2	CD200R1	3	112647851	Missense_Mutation	SNP	G	TCGA-B8-5546-01A-01D-1534-10		112647851	85374579	4	16980											
ADCY2	108	hgsc.bcm.edu	37	5	7757684	7757715	+	Splice_Site	DEL	GGCCGTGTTCAACATGGTAAGTCCCAGAGCAC	GGCCGTGTTCAACATGGTAAGTCCCAGAGCAC	-	rs138503341|rs376428226|rs4072341|rs375816730|rs4479814	byFrequency	TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	GGCCGTGTTCAACATGGTAAGTCCCAGAGCAC	GGCCGTGTTCAACATGGTAAGTCCCAGAGCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr5:7757684_7757715delGGCCGTGTTCAACATGGTAAGTCCCAGAGCAC	ENST00000338316.4	+	16	2168_2183	c.2079_2094delGGCCGTGTTCAACATGGTAAGTCCCAGAGCAC	c.(2077-2094)atggccgtgttcaacatg>at	p.MAVFNM693fs	ADCY2_ENST00000537121.1_Splice_Site_p.MAVFNM513fs	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	693					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.?(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATTAATGATGGCCGTGTTCAACATGGTAAGTCCCAGAGCACGGCCGTGTTC	0.547																																																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)																																								SO:0001630	splice_region_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2094+1GGCCGTGTTCAACATGGTAAGTCCCAGAGCAC>-	5.37:g.7757684_7757715delGGCCGTGTTCAACATGGTAAGTCCCAGAGCAC			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Frame_Shift_Del	DEL	ENST00000338316.4	37	CCDS3872.2																																																																																				0.547	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	Frame_Shift_Del	-	7757715	GGCCGTGTTCAACATGGTAAGTCCCAGAGCAC	-	7757684	8	5	285	1	0	1	0	1	0	0	1	0	294	1348	47	0	2141	0	ADCY2	5	7757684	Splice_Site	DEL	GGCCGTGTTCAACATGGTAAGTCCCAGAGCAC	TCGA-B8-5546-01A-01D-1534-10		7757684	173157576	5	16981											
CAST	831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	96103643	96103644	+	Missense_Mutation	DNP	TC	TC	CT	rs572539750		TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr5:96103643_96103644TC>CT	ENST00000341926.3	+	27	2121_2122	c.1959_1960TC>CT	c.(1957-1962)gcTCtc>gcCTtc	p.L654F	CAST_ENST00000508830.1_Missense_Mutation_p.L737F|CAST_ENST00000359176.4_Missense_Mutation_p.L718F|CAST_ENST00000508608.1_Missense_Mutation_p.L700F|CAST_ENST00000509903.1_Missense_Mutation_p.L619F|CAST_ENST00000395813.1_Missense_Mutation_p.L737F|CAST_ENST00000325674.7_Missense_Mutation_p.L702F|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Missense_Mutation_p.L632F|CAST_ENST00000510756.1_Missense_Mutation_p.L715F|CAST_ENST00000395812.2_Missense_Mutation_p.L696F|CAST_ENST00000338252.3_Missense_Mutation_p.L641F|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000515663.1_Missense_Mutation_p.L377F|CAST_ENST00000504465.1_Missense_Mutation_p.L582F|CAST_ENST00000508579.1_Missense_Mutation_p.L369F|CAST_ENST00000511782.1_Missense_Mutation_p.L640F|CAST_ENST00000511049.1_Missense_Mutation_p.L639F			P20810	ICAL_HUMAN	calpastatin	654					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.L632F(1)|p.A631A(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CCATTGATGCTCTCTCAGGAGA	0.441																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	831			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	Exception_encountered	5.37:g.96103643_96103644delinsCT	ENSP00000339914:p.Leu654Phe		B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Silent|Missense_Mutation	SNP	ENST00000341926.3	37																																																																																					0.441	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		CT	96103644	TC	CT	96103643	3	2	285	1	0	0	0	0	1	0	0	0	2686	1538	54	3	2446	3	CAST	5	96103643	Missense_Mutation	DNP	TC	TCGA-B8-5546-01A-01D-1534-10	88345959	96103643	84811617	6	16982											
DNAH8	1769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	38942198	38942198	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr6:38942198T>G	ENST00000359357.3	+	83	12330	c.12076T>G	c.(12076-12078)Ttg>Gtg	p.L4026V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L3990V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4026	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L4026V(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACGCGCAGGTTTGAAAAGAAC	0.383																																																2	Substitution - Missense(2)	kidney(2)											82	75	77					6																	38942198		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12076T>G	6.37:g.38942198T>G	ENSP00000352312:p.Leu4026Val		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	19.70	3.876432	0.72180	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.14391	2.51;2.51;2.51	5.84	1.84	0.25277	Dynein heavy chain (1);	0.000000	0.64402	D	0.000008	T	0.23649	0.0572	M	0.87827	2.91	0.45390	D	0.998372	D;D	0.61697	0.987;0.99	P;P	0.62491	0.843;0.903	T	0.04976	-1.0914	10	0.66056	D	0.02	.	9.461	0.38785	0.0:0.3535:0.0:0.6465	.	3990;4026	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	V	4231;4026;3990	ENSP00000333363:L4231V;ENSP00000352312:L4026V;ENSP00000402294:L3990V	ENSP00000333363:L4231V	L	+	1	2	DNAH8	39050176	0.105000	0.21958	0.769000	0.31535	0.989000	0.77384	0.432000	0.21461	0.358000	0.24211	0.533000	0.62120	TTG		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38942198	T	G	38942198	3	3	285	1	0	0	0	0	1	0	0	0	4609	1838	64	5	12398	5	DNAH8	6	38942198	Missense_Mutation	SNP	T	TCGA-B8-5546-01A-01D-1534-10		38942198	132172869	7	16983											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82582250	82582250	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr7:82582250T>G	ENST00000333891.9	-	5	8356	c.8019A>C	c.(8017-8019)gaA>gaC	p.E2673D	PCLO_ENST00000423517.2_Missense_Mutation_p.E2673D|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E2673D(2)|p.E2604D(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTGGAAACTTCAGTAGTGA	0.458																																																3	Substitution - Missense(3)	kidney(3)											75	74	75					7																	82582250		1898	4119	6017	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8019A>C	7.37:g.82582250T>G	ENSP00000334319:p.Glu2673Asp			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	5.813	0.334275	0.11013	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18960	2.18;2.19	5.36	1.36	0.22044	.	.	.	.	.	T	0.13200	0.0320	L	0.34521	1.04	0.80722	D	1	B;B	0.14805	0.006;0.011	B;B	0.19946	0.007;0.027	T	0.16897	-1.0387	9	0.87932	D	0	.	1.6109	0.02693	0.1251:0.1545:0.2342:0.4863	.	2673;2673	Q9Y6V0-5;Q9Y6V0-6	.;.	D	2604;2673;2673	ENSP00000334319:E2673D;ENSP00000388393:E2673D	ENSP00000334319:E2673D	E	-	3	2	PCLO	82420186	0.432000	0.25554	0.007000	0.13788	0.661000	0.39034	0.248000	0.18198	0.327000	0.23409	0.482000	0.46254	GAA		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82582250	T	G	82582250	3	3	285	1	0	0	0	0	1	0	0	0	11585	1606	56	5	7510	5	PCLO	7	82582250	Missense_Mutation	SNP	T	TCGA-B8-5546-01A-01D-1534-10		82582250	76556413	8	16984											
COL14A1	7373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	121282409	121282409	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr8:121282409C>A	ENST00000297848.3	+	26	3479	c.3209C>A	c.(3208-3210)aCc>aAc	p.T1070N	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T975N|COL14A1_ENST00000309791.4_Missense_Mutation_p.T1070N	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.T1070N(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACAGATGGAACCCAAGTAAGG	0.373																																																1	Substitution - Missense(1)	kidney(1)											66	64	64					8																	121282409		2203	4299	6502	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3209C>A	8.37:g.121282409C>A	ENSP00000297848:p.Thr1070Asn			Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678581	0.88542	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.84730	-1.89;-1.89;-1.89	5.21	5.21	0.72293	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94547	0.7750	10	0.51188	T	0.08	.	18.9528	0.92646	0.0:1.0:0.0:0.0	.	1070	Q05707	COEA1_HUMAN	N	1070;1070;975	ENSP00000311809:T1070N;ENSP00000297848:T1070N;ENSP00000247781:T975N	ENSP00000247781:T975N	T	+	2	0	COL14A1	121351590	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.809000	0.62591	2.716000	0.92895	0.561000	0.74099	ACC		0.373	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121282409	C	A	121282409	3	1	285	1	0	0	0	0	1	0	0	0	3673	507	18	4	3307	4	COL14A1	8	121282409	Missense_Mutation	SNP	C	TCGA-B8-5546-01A-01D-1534-10		121282409	25081613	9	16985											
IGSF22	283284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18729752	18729752	+	Splice_Site	SNP	A	A	G			TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr11:18729752A>G	ENST00000513874.1	-	19	3227		c.e19+1		IGSF22_ENST00000510673.1_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22									p.?(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGGACAACTCACAGAGAAGGC	0.552																																																1	Unknown(1)	kidney(1)											139	134	135					11																	18729752		692	1591	2283	SO:0001630	splice_region_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.3087+1T>C	11.37:g.18729752A>G			A6NNA0|D6RGV7	Splice_Site	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	A	13.95	2.391246	0.42410	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1102	0.53836	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF22	18686328	0.984000	0.35163	0.993000	0.49108	0.521000	0.34408	2.654000	0.46699	1.846000	0.53633	0.528000	0.53228	.		0.552	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	Intron	G	18729752	A	G	18729752	5	3	285	1	0	0	0	0	0	0	1	0	7602	173	6	3	911	3	IGSF22	11	18729752	Splice_Site	SNP	A	TCGA-B8-5546-01A-01D-1534-10		18729752	116276764	10	16986											
GOLGA3	2802	broad.mit.edu;ucsc.edu	37	12	133374959	133374959	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr12:133374959C>G	ENST00000450791.2	-	8	2088	c.1905G>C	c.(1903-1905)aaG>aaC	p.K635N	GOLGA3_ENST00000537452.1_Missense_Mutation_p.K635N|GOLGA3_ENST00000204726.3_Missense_Mutation_p.K635N|GOLGA3_ENST00000456883.2_Missense_Mutation_p.K635N|GOLGA3_ENST00000545875.1_Missense_Mutation_p.K635N			Q08378	GOGA3_HUMAN	golgin A3	635	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.K635N(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGATGCGCCCCTTCTCCTTCA	0.592																																																2	Substitution - Missense(2)	kidney(2)											113	102	106					12																	133374959		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1905G>C	12.37:g.133374959C>G	ENSP00000410378:p.Lys635Asn		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529837	0.45073	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.64438	0.37;0.37;0.34;-0.1;-0.1	5.8	2.98	0.34508	.	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.70128	-0.4957	10	0.87932	D	0	.	14.1721	0.65517	0.0:0.8607:0.0:0.1393	.	635;635;635	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	N	635	ENSP00000204726:K635N;ENSP00000410378:K635N;ENSP00000409303:K635N;ENSP00000442143:K635N;ENSP00000442603:K635N	ENSP00000204726:K635N	K	-	3	2	GOLGA3	131885032	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	0.837000	0.27558	0.362000	0.24319	-0.940000	0.02684	AAG		0.592	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		G	133374959	C	G	133374959	3	3	285	1	0	0	0	0	1	0	0	0	6556	680	24	4	2793	4	GOLGA3	12	133374959	Missense_Mutation	SNP	C	TCGA-B8-5546-01A-01D-1534-10		133374959	476936	11	16987											
NEUROD2	4761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37762561	37762561	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr17:37762561C>T	ENST00000302584.4	-	2	512	c.292G>A	c.(292-294)Ggc>Agc	p.G98S		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	98					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 corepressor activity (GO:0003714)	p.G98S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GGCCGCTCGCCCTCCGCCTCG	0.687																																																1	Substitution - Missense(1)	kidney(1)											33	27	29					17																	37762561		2203	4300	6503	SO:0001583	missense	4761			U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"Basic helix-loop-helix proteins"	7763	protein-coding gene	gene with protein product		601725	"neurogenic differentiation 2"			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.292G>A	17.37:g.37762561C>T	ENSP00000306754:p.Gly98Ser		Q8TBI7|Q9UQC6	Missense_Mutation	SNP	ENST00000302584.4	37	CCDS11338.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105971	0.77096	.	.	ENSG00000171532	ENST00000302584	D	0.96745	-4.11	5.25	5.25	0.73442	.	0.128312	0.51477	U	0.000086	D	0.96213	0.8765	L	0.49126	1.545	0.54753	D	0.999985	D	0.56968	0.978	P	0.54759	0.76	D	0.94800	0.7970	10	0.21540	T	0.41	-7.2286	17.6108	0.88053	0.0:1.0:0.0:0.0	.	98	Q15784	NDF2_HUMAN	S	98	ENSP00000306754:G98S	ENSP00000306754:G98S	G	-	1	0	NEUROD2	35016087	0.935000	0.31712	1.000000	0.80357	0.988000	0.76386	4.789000	0.62446	2.451000	0.82905	0.511000	0.50034	GGC		0.687	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		T	37762561	C	T	37762561	3	4	285	1	0	0	0	0	1	0	0	0	10351	623	22	2	860	2	NEUROD2	17	37762561	Missense_Mutation	SNP	C	TCGA-B8-5546-01A-01D-1534-10		37762561	43432649	12	16988											
SUSD2	56241	broad.mit.edu	37	22	24577515	24577517	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	CTG	CTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr22:24577515_24577517delCTG	ENST00000358321.3	+	1	289_291	c.28_30delCTG	c.(28-30)ctgdel	p.L13del		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	13					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCCCTGGGCCCTGCTGCTGCTGG	0.685																																																0																																										SO:0001651	inframe_deletion	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.28_30delCTG	22.37:g.24577524_24577526delCTG	ENSP00000351075:p.Leu13del		Q9H5Y6	In_Frame_Del	DEL	ENST00000358321.3	37	CCDS13824.1																																																																																				0.685	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		-	24577517	CTG	-	24577515	7	5	285	1	0	1	0	1	0	0	0	0	15413	680	24	0	30	0	SUSD2	22	24577515	In_Frame_Del	DEL	CTG	TCGA-B8-5546-01A-01D-1534-10		24577515	26727051	13	16989											
HPS4	89781	broad.mit.edu	37	22	26853885	26853885	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5546-01A-01D-1534-10	TCGA-B8-5546-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3f75b12-27ee-4d38-bd72-f6e167a25da6	14556f56-ec45-48fe-96ef-cd4ff64ec294	g.chr22:26853885G>T	ENST00000398145.2	-	13	2511	c.1895C>A	c.(1894-1896)gCc>gAc	p.A632D	HPS4_ENST00000398141.1_Missense_Mutation_p.A645D|HPS4_ENST00000402105.3_Missense_Mutation_p.A627D|HPS4_ENST00000336873.5_Missense_Mutation_p.A632D|HPS4_ENST00000493455.2_5'UTR	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	632					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.A645D(2)|p.A632D(2)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CAGGCTGACGGCCTGGAGGAA	0.592									Hermansky-Pudlak syndrome																																							4	Substitution - Missense(4)	prostate(2)|kidney(2)											53	51	51					22																	26853885		2203	4300	6503	SO:0001583	missense	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1895C>A	22.37:g.26853885G>T	ENSP00000381213:p.Ala632Asp		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778402	0.90195	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.77103	2.36	0.46564	D	0.9991	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999	T	0.58470	-0.7631	10	0.87932	D	0	-23.3461	16.0907	0.81088	0.0:0.0:1.0:0.0	.	632;632;632;645;627	Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;HPS4_HUMAN;.;.;.	D	632;645;627;632	ENSP00000381213:A632D;ENSP00000381210:A645D;ENSP00000384185:A627D;ENSP00000338457:A632D	ENSP00000338457:A632D	A	-	2	0	HPS4	25183885	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.216000	0.72212	2.390000	0.81377	0.655000	0.94253	GCC		0.592	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		T	26853885	G	T	26853885	3	4	285	1	0	0	0	0	1	0	0	0	7343	1203	42	4	239	4	HPS4	22	26853885	Missense_Mutation	SNP	G	TCGA-B8-5546-01A-01D-1534-10	2276370	26853885	24450681	14	16990											
NPPA	4878	broad.mit.edu;ucsc.edu	37	1	11907351	11907351	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:11907351G>T	ENST00000376480.3	-	2	367	c.269C>A	c.(268-270)gCc>gAc	p.A90D	NPPA_ENST00000376476.1_Missense_Mutation_p.A40D|NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	90					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.A90D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCTCTGGGCTGGGCTGAC	0.667																																																1	Substitution - Missense(1)	kidney(1)											30	36	34					1																	11907351		2193	4298	6491	SO:0001583	missense	4878			BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"Endogenous ligands"	7939	protein-coding gene	gene with protein product		108780	"natriuretic peptide precursor A"	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.269C>A	1.37:g.11907351G>T	ENSP00000365663:p.Ala90Asp		Q13766|Q5JZE1	Missense_Mutation	SNP	ENST00000376480.3	37	CCDS139.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594407	0.46214	.	.	ENSG00000175206	ENST00000376480;ENST00000376476	T	0.45668	0.89	5.84	2.93	0.34026	.	0.504912	0.20878	N	0.084058	T	0.36138	0.0956	M	0.76574	2.34	0.26044	N	0.981569	P	0.38922	0.651	B	0.32805	0.153	T	0.35871	-0.9771	10	0.54805	T	0.06	-2.7832	5.3908	0.16244	0.1673:0.0:0.6715:0.1612	.	90	P01160	ANF_HUMAN	D	90;40	ENSP00000365663:A90D	ENSP00000365659:A40D	A	-	2	0	NPPA	11829938	0.910000	0.30920	0.884000	0.34674	0.878000	0.50629	0.497000	0.22514	0.371000	0.24564	0.561000	0.74099	GCC		0.667	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172		T	11907351	G	T	11907351	3	4	286	1	0	0	0	0	1	0	0	0	10593	1203	42	4	194	4	NPPA	1	11907351	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10		11907351	237343270	1	16991											
ARID1A	8289	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27106271	27106271	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:27106271G>A	ENST00000324856.7	+	20	6253	c.5882G>A	c.(5881-5883)aGt>aAt	p.S1961N	ARID1A_ENST00000374152.2_Missense_Mutation_p.S1578N|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1744N|ARID1A_ENST00000540690.1_Missense_Mutation_p.S289N	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1961					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S1961N(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAACCCCACAGTAAGGATGAG	0.522			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Missense(1)	kidney(1)											169	140	150					1																	27106271		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5882G>A	1.37:g.27106271G>A	ENSP00000320485:p.Ser1961Asn		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536160	0.85812	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.10960	4.33;4.18;4.15;2.82	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	M	0.69823	2.125	0.54753	D	0.999985	D;D;D	0.76494	0.999;0.993;0.996	D;D;D	0.80764	0.994;0.919;0.963	T	0.02075	-1.1218	10	0.56958	D	0.05	-6.5956	18.8866	0.92381	0.0:0.0:1.0:0.0	.	1578;1961;1744	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	N	1961;1744;1578;289	ENSP00000320485:S1961N;ENSP00000387636:S1744N;ENSP00000363267:S1578N;ENSP00000442437:S289N	ENSP00000320485:S1961N	S	+	2	0	ARID1A	26978858	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.422000	0.97458	2.769000	0.95229	0.491000	0.48974	AGT		0.522	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		A	27106271	G	A	27106271	3	1	286	1	0	0	0	0	1	0	0	0	913	1029	36	2	5960	2	ARID1A	1	27106271	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10	15198920	27106271	222144350	2	16992											
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39801310	39801310	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:39801310C>A	ENST00000372915.3	+	36	9152	c.9065C>A	c.(9064-9066)cCt>cAt	p.P3022H	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.P3017H|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P1457H|MACF1_ENST00000567887.1_Missense_Mutation_p.P3054H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3022					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.P1457H(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGAGCCAACCTAGGGAAATG	0.383																																																1	Substitution - Missense(1)	kidney(1)											68	72	71					1																	39801310		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9065C>A	1.37:g.39801310C>A	ENSP00000362006:p.Pro3022His		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	5.611	0.297437	0.10622	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.61627	0.09;1.15	5.38	4.46	0.54185	.	1.008860	0.07958	N	0.981946	T	0.46444	0.1393	N	0.19112	0.55	0.34488	D	0.704672	P	0.38642	0.641	B	0.36959	0.237	T	0.51419	-0.8708	10	0.59425	D	0.04	.	12.1313	0.53944	0.0:0.8273:0.1727:0.0	.	3022	Q9UPN3	MACF1_HUMAN	H	3022;1457	ENSP00000362006:P3022H;ENSP00000289893:P1457H	ENSP00000289893:P1457H	P	+	2	0	MACF1	39573897	0.010000	0.17322	0.002000	0.10522	0.483000	0.33249	2.525000	0.45598	1.246000	0.43901	0.467000	0.42956	CCT		0.383	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39801310	C	A	39801310	3	1	286	1	0	0	0	0	1	0	0	0	9146	681	24	4	9141	4	MACF1	1	39801310	Missense_Mutation	SNP	C	TCGA-B8-5549-01A-01D-1534-10	12695039	39801310	209449311	3	16993											
CCDC30	728621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43055004	43055004	+	Silent	SNP	T	T	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:43055004T>C	ENST00000340612.4	+	8	1233	c.1233T>C	c.(1231-1233)taT>taC	p.Y411Y	CCDC30_ENST00000428554.2_Silent_p.Y411Y|CCDC30_ENST00000507855.1_Silent_p.Y200Y|CCDC30_ENST00000390640.4_Silent_p.Y200Y|CCDC30_ENST00000342022.4_Silent_p.Y411Y			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	411						extracellular vesicular exosome (GO:0070062)		p.Y411Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AACTTCTATATCAGAACGTAG	0.353																																																1	Substitution - coding silent(1)	kidney(1)											74	73	73					1																	43055004		2203	4300	6503	SO:0001819	synonymous_variant	728621			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1233T>C	1.37:g.43055004T>C			Q14F06|Q5VVM5	Silent	SNP	ENST00000340612.4	37	CCDS30690.1																																																																																				0.353	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		C	43055004	T	C	43055004	2	2	286	1	0	0	0	0	0	0	0	1	2807	1442	50	3		3	CCDC30	1	43055004	Silent	SNP	T	TCGA-B8-5549-01A-01D-1534-10	3253694	43055004	206195617	4	16994											
CCDC30	728621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43111913	43111913	+	Missense_Mutation	SNP	C	C	A	rs367817958		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:43111913C>A	ENST00000340612.4	+	13	1998	c.1998C>A	c.(1996-1998)agC>agA	p.S666R	CCDC30_ENST00000428554.2_Missense_Mutation_p.S666R|CCDC30_ENST00000507855.1_Missense_Mutation_p.S455R|CCDC30_ENST00000390640.4_Missense_Mutation_p.S455R|CCDC30_ENST00000342022.4_Missense_Mutation_p.S666R			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	666						extracellular vesicular exosome (GO:0070062)		p.S666R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						tcttcaccagcaacaatgcag	0.478																																																1	Substitution - Missense(1)	kidney(1)											46	39	42					1																	43111913		2132	4177	6309	SO:0001583	missense	728621			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1998C>A	1.37:g.43111913C>A	ENSP00000340378:p.Ser666Arg		Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	0.106	-1.144772	0.01714	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	0.427	0.427	0.16489	.	.	.	.	.	T	0.24084	0.0583	N	0.22421	0.69	0.09310	N	1	B;B	0.18461	0.005;0.028	B;B	0.10450	0.003;0.005	T	0.23084	-1.0198	8	0.19147	T	0.46	.	.	.	.	.	666;455	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	R	666;455;666;666;455	ENSP00000397035:S666R;ENSP00000426711:S455R;ENSP00000340378:S666R;ENSP00000339280:S666R;ENSP00000375051:S455R	ENSP00000340378:S666R	S	+	3	2	CCDC30	42884500	0.009000	0.17119	0.007000	0.13788	0.007000	0.05969	0.543000	0.23237	0.458000	0.26988	0.467000	0.42956	AGC		0.478	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		A	43111913	C	A	43111913	3	1	286	1	0	0	0	0	1	0	0	0	2807	709	25	4	2048	4	CCDC30	1	43111913	Missense_Mutation	SNP	C	TCGA-B8-5549-01A-01D-1534-10	56909	43111913	206138708	5	16995											
PLK3	1263	broad.mit.edu	37	1	45269620	45269620	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:45269620delC	ENST00000372201.4	+	10	1421	c.1182delC	c.(1180-1182)ggcfs	p.G394fs	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	394					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAGCTTCTGGCCCAGCCCCTG	0.627																																																0													16	15	15					1																	45269620		2139	4173	6312	SO:0001589	frameshift_variant	1263			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1182delC	1.37:g.45269620delC	ENSP00000361275:p.Gly394fs		Q15767|Q5JR99|Q96CV1	Frame_Shift_Del	DEL	ENST00000372201.4	37	CCDS515.1																																																																																				0.627	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		-	45269620	C	-	45269620	7	5	286	1	0	1	0	1	0	0	0	0	12099	726	26	0	1220	0	PLK3	1	45269620	Frame_Shift_Del	DEL	C	TCGA-B8-5549-01A-01D-1534-10	2157707	45269620	203981001	6	16996											
L1TD1	54596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62673128	62673128	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:62673128T>G	ENST00000498273.1	+	3	1123	c.828T>G	c.(826-828)ttT>ttG	p.F276L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	276								p.F276L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aacctaaatttctgtgtgaag	0.348																																																1	Substitution - Missense(1)	kidney(1)											28	24	26					1																	62673128		1578	2817	4395	SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.828T>G	1.37:g.62673128T>G	ENSP00000419901:p.Phe276Leu		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	T	8.850	0.944337	0.18356	.	.	ENSG00000240563	ENST00000498273	T	0.08193	3.12	2.35	1.15	0.20763	.	.	.	.	.	T	0.04137	0.0115	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	5.1726	0.15118	0.0:0.0:0.3323:0.6677	.	276	Q5T7N2	LITD1_HUMAN	L	276	ENSP00000419901:F276L	ENSP00000419901:F276L	F	+	3	2	L1TD1	62445716	0.033000	0.19621	0.003000	0.11579	0.042000	0.13812	0.571000	0.23669	0.333000	0.23563	0.383000	0.25322	TTT		0.348	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		G	62673128	T	G	62673128	3	3	286	1	0	0	0	0	1	0	0	0	8591	1780	62	5	830	5	L1TD1	1	62673128	Missense_Mutation	SNP	T	TCGA-B8-5549-01A-01D-1534-10	17403508	62673128	186577493	7	16997											
ASH1L	55870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155385552	155385552	+	Silent	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:155385552G>A	ENST00000368346.3	-	6	6630	c.5991C>T	c.(5989-5991)gaC>gaT	p.D1997D	ASH1L_ENST00000392403.3_Silent_p.D1997D|snoU13_ENST00000458873.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1997					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.D1997D(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTGTAAACGTCAGAATACA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											191	209	203					1																	155385552		2203	4300	6503	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5991C>T	1.37:g.155385552G>A			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37																																																																																					0.398	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		A	155385552	G	A	155385552	2	1	286	1	0	0	0	0	0	0	0	1	1041	1136	40	1		1	ASH1L	1	155385552	Silent	SNP	G	TCGA-B8-5549-01A-01D-1534-10	92712424	155385552	93865069	8	16998											
OR6K2	81448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158670428	158670428	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:158670428A>C	ENST00000359610.2	-	1	58	c.15T>G	c.(13-15)aaT>aaG	p.N5K		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGTGGTTCGATTGGGGCTCT	0.433																																																1	Substitution - Missense(1)	kidney(1)											83	87	85					1																	158670428		2181	4285	6466	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.15T>G	1.37:g.158670428A>C	ENSP00000352626:p.Asn5Lys		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593677	0.46214	.	.	ENSG00000196171	ENST00000359610	T	0.02158	4.42	4.48	4.48	0.54585	.	0.000000	0.38837	U	0.001546	T	0.03871	0.0109	M	0.93062	3.375	0.09310	N	1	P	0.47841	0.901	P	0.47402	0.546	T	0.19321	-1.0309	10	0.87932	D	0	-10.028	8.1506	0.31139	0.9054:0.0:0.0946:0.0	.	5	Q8NGY2	OR6K2_HUMAN	K	5	ENSP00000352626:N5K	ENSP00000352626:N5K	N	-	3	2	OR6K2	156937052	0.033000	0.19621	0.162000	0.22713	0.024000	0.10985	0.356000	0.20181	1.872000	0.54250	0.459000	0.35465	AAT		0.433	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		C	158670428	A	C	158670428	3	2	286	1	0	0	0	0	1	0	0	0	11204	330	12	5	963	5	OR6K2	1	158670428	Missense_Mutation	SNP	A	TCGA-B8-5549-01A-01D-1534-10	3284876	158670428	90580193	9	16999											
MARK1	4139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	220835299	220835299	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:220835299G>T	ENST00000366917.4	+	18	2445	c.2179G>T	c.(2179-2181)Gca>Tca	p.A727S	MARK1_ENST00000402574.1_Missense_Mutation_p.A577S|RP11-322F10.2_ENST00000446040.1_RNA|MARK1_ENST00000366918.4_Missense_Mutation_p.A690S					MAP/microtubule affinity-regulating kinase 1									p.A727S(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGTGTTAGATGCAAATAACTG	0.433																																																1	Substitution - Missense(1)	kidney(1)											116	115	116					1																	220835299		2203	4300	6503	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2179G>T	1.37:g.220835299G>T	ENSP00000355884:p.Ala727Ser			Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738491	0.69304	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.54479	0.57;0.57;0.57	6.16	5.25	0.73442	Kinase-associated KA1 (2);	0.056855	0.64402	D	0.000001	T	0.59622	0.2207	M	0.64404	1.975	0.46416	D	0.999033	P;P;B;B	0.39094	0.529;0.659;0.36;0.126	B;P;B;B	0.45343	0.285;0.477;0.14;0.2	T	0.62760	-0.6786	10	0.56958	D	0.05	.	15.682	0.77376	0.0653:0.0:0.9347:0.0	.	712;577;727;690	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	S	577;690;727	ENSP00000386017:A577S;ENSP00000355885:A690S;ENSP00000355884:A727S	ENSP00000355884:A727S	A	+	1	0	MARK1	218901922	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	6.840000	0.75369	1.626000	0.50381	0.650000	0.86243	GCA		0.433	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			T	220835299	G	T	220835299	3	4	286	1	0	0	0	0	1	0	0	0	9314	1319	46	4	2249	4	MARK1	1	220835299	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10	62164871	220835299	28415322	10	17000											
GREB1	9687	broad.mit.edu	37	2	11725906	11725906	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:11725906G>T	ENST00000381486.2	+	9	1334	c.1034G>T	c.(1033-1035)tGc>tTc	p.C345F	GREB1_ENST00000234142.5_Missense_Mutation_p.C345F|GREB1_ENST00000381483.2_Missense_Mutation_p.C345F|RN7SL674P_ENST00000463397.2_RNA|GREB1_ENST00000263834.5_Missense_Mutation_p.C345F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	345						integral component of membrane (GO:0016021)		p.C345F(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCATGTCCTGCGTGCCGCAG	0.522																																					Ovarian(39;850 945 2785 23371 33093)											3	Substitution - Missense(3)	kidney(3)											87	79	82					2																	11725906		2203	4300	6503	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1034G>T	2.37:g.11725906G>T	ENSP00000370896:p.Cys345Phe		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598070	0.28445	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.17528	3.29;2.27;2.29;3.29	5.46	5.46	0.80206	.	0.338970	0.31554	N	0.007447	T	0.26991	0.0661	L	0.46157	1.445	0.39588	D	0.969542	P;P;P	0.50617	0.881;0.937;0.755	P;P;B	0.52514	0.701;0.628;0.179	T	0.00986	-1.1490	10	0.56958	D	0.05	-1.183	14.2421	0.65963	0.0:0.1603:0.8397:0.0	.	345;345;345	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	F	345	ENSP00000370896:C345F;ENSP00000263834:C345F;ENSP00000370892:C345F;ENSP00000234142:C345F	ENSP00000234142:C345F	C	+	2	0	GREB1	11643357	1.000000	0.71417	0.836000	0.33094	0.023000	0.10783	4.060000	0.57477	2.568000	0.86640	0.650000	0.86243	TGC		0.522	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11725906	G	T	11725906	3	4	286	1	0	0	0	0	1	0	0	0	6762	1319	46	4	1064	4	GREB1	2	11725906	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10		11725906	231473467	11	17001											
GALM	130589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	38903134	38903134	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:38903134G>T	ENST00000272252.5	+	2	523	c.271G>T	c.(271-273)Gat>Tat	p.D91Y	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	91					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)	p.D91Y(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CTTCAAGGTGGATGGGAAGGA	0.498																																																1	Substitution - Missense(1)	kidney(1)											183	147	159					2																	38903134		2203	4300	6503	SO:0001583	missense	130589				CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"aldose 1 epimerase"	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.271G>T	2.37:g.38903134G>T	ENSP00000272252:p.Asp91Tyr		Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	ENST00000272252.5	37	CCDS1797.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151493	0.78001	.	.	ENSG00000143891	ENST00000272252	T	0.53640	0.61	5.55	4.67	0.58626	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.219739	0.44688	D	0.000428	T	0.68302	0.2986	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	T	0.72827	-0.4175	10	0.56958	D	0.05	-10.2449	13.8163	0.63295	0.073:0.0:0.927:0.0	.	91	Q96C23	GALM_HUMAN	Y	91	ENSP00000272252:D91Y	ENSP00000272252:D91Y	D	+	1	0	GALM	38756638	1.000000	0.71417	0.473000	0.27253	0.831000	0.47069	6.066000	0.71185	2.606000	0.88127	0.655000	0.94253	GAT		0.498	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		T	38903134	G	T	38903134	3	4	286	1	0	0	0	0	1	0	0	0	6207	1174	41	4	277	4	GALM	2	38903134	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10	27177228	38903134	204296239	12	17002											
PRKCE	5581	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	46228548	46228548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:46228548delA	ENST00000306156.3	+	7	1156	c.829delA	c.(829-831)aaafs	p.K277fs	PRKCE_ENST00000394874.1_5'UTR	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	277					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TACAGTCTGCAAAATGAATGT	0.453																																																0													134	128	130					2																	46228548		1833	3762	5595	SO:0001589	frameshift_variant	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.829delA	2.37:g.46228548delA	ENSP00000306124:p.Lys277fs		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Frame_Shift_Del	DEL	ENST00000306156.3	37	CCDS1824.1																																																																																				0.453	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			-	46228548	A	-	46228548	7	5	286	1	0	1	0	1	0	0	0	0	12516	131	5	0	855	0	PRKCE	2	46228548	Frame_Shift_Del	DEL	A	TCGA-B8-5549-01A-01D-1534-10	7325414	46228548	196970825	13	17003											
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61522139	61522139	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:61522139G>A	ENST00000398571.2	-	32	4482	c.4406C>T	c.(4405-4407)tCa>tTa	p.S1469L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1469					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S1469L(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGAATCATCTGAATCTGGATA	0.308																																																1	Substitution - Missense(1)	kidney(1)											69	65	66					2																	61522139		1823	4075	5898	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4406C>T	2.37:g.61522139G>A	ENSP00000381577:p.Ser1469Leu		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846915	0.71603	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03920	3.76	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	L	0.48642	1.525	0.58432	D	0.999996	B	0.25667	0.131	B	0.22386	0.039	T	0.37979	-0.9682	10	0.22109	T	0.4	.	18.0661	0.89391	0.0:0.0:1.0:0.0	.	1469	Q70CQ2	UBP34_HUMAN	L	1317;1317;1469	ENSP00000381577:S1469L	ENSP00000263989:S1317L	S	-	2	0	USP34	61375643	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.928000	0.87587	2.507000	0.84556	0.650000	0.86243	TCA		0.308	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			A	61522139	G	A	61522139	3	1	286	1	0	0	0	0	1	0	0	0	17070	1294	45	2	6430	2	USP34	2	61522139	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10	15293591	61522139	181677234	14	17004											
IL18RAP	8807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	103067330	103067330	+	Silent	SNP	C	C	T	rs140183707	byFrequency	TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:103067330C>T	ENST00000264260.2	+	11	1822	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	IL18RAP_ENST00000409369.1_Silent_p.F269F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	411	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.F411F(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGATGCTTTCGTATCCTATG	0.343																																																1	Substitution - coding silent(1)	kidney(1)						C		2,4404	2.1+/-5.4	0,2,2201	90	98	95		1233	-2.6	0.1	2	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous	IL18RAP	NM_003853.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		411/600	103067330	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1233C>T	2.37:g.103067330C>T			B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	CCDS2061.1																																																																																				0.343	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		T	103067330	C	T	103067330	2	4	286	1	0	0	0	0	0	0	0	1	7650	883	31	1		1	IL18RAP	2	103067330	Silent	SNP	C	TCGA-B8-5549-01A-01D-1534-10	41545191	103067330	140132043	15	17005											
SCN1A	6323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	166909391	166909391	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:166909391C>A	ENST00000303395.4	-	5	664	c.665G>T	c.(664-666)cGa>cTa	p.R222L	SCN1A_ENST00000375405.3_Missense_Mutation_p.R222L|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R222L|SCN1A_ENST00000423058.2_Missense_Mutation_p.R222L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	222					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R222L(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTCAATGCTCGGAGAACTCT	0.453																																																2	Substitution - Missense(2)	kidney(2)											95	77	83					2																	166909391		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.665G>T	2.37:g.166909391C>A	ENSP00000303540:p.Arg222Leu		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947077	0.92593	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.53938	D	0.000050	D	0.99857	0.9933	H	0.99286	4.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.96647	0.9478	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	222;222;222	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	L	222	ENSP00000407030:R222L;ENSP00000303540:R222L;ENSP00000364554:R222L;ENSP00000386312:R222L	ENSP00000303540:R222L	R	-	2	0	SCN1A	166617637	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	7.726000	0.84824	2.885000	0.99019	0.655000	0.94253	CGA		0.453	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		A	166909391	C	A	166909391	3	1	286	1	0	0	0	0	1	0	0	0	13920	884	31	4	5452	4	SCN1A	2	166909391	Missense_Mutation	SNP	C	TCGA-B8-5549-01A-01D-1534-10	63842061	166909391	76289982	16	17006											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191491	10191491	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr3:10191491T>C	ENST00000256474.2	+	3	1324	c.484T>C	c.(484-486)Tgc>Cgc	p.C162R	VHL_ENST00000345392.2_Missense_Mutation_p.C121R|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	162	Interaction with Elongin BC complex.		C -> F (in VHLD; type I; No effect on interaction with HIF1A nor on HIF1A degradation). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9452032, ECO:0000269|PubMed:9829911}.|C -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|C -> W (in VHLD; type I-II; dbSNP:rs5030622). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|C -> Y (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.C162R(4)|p.C162fs*12(1)|p.L158fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GAAAGAGCGATGCCTCCAGGT	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	6	Substitution - Missense(4)|Deletion - Frameshift(1)|Insertion - Frameshift(1)	kidney(6)	GRCh37	CM951294	VHL	M							95	86	89					3																	10191491		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.484T>C	3.37:g.10191491T>C	ENSP00000256474:p.Cys162Arg		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568513	0.65651	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99830	-7.01;-7.01	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.108704	0.64402	D	0.000008	D	0.99697	0.9885	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.78314	0.961;0.991	D	0.97089	0.9789	10	0.87932	D	0	-7.1517	12.7224	0.57149	0.0:0.0:0.0:1.0	.	121;162	P40337-2;P40337	.;VHL_HUMAN	R	162;121;80	ENSP00000256474:C162R;ENSP00000344757:C121R	ENSP00000256474:C162R	C	+	1	0	VHL	10166491	1.000000	0.71417	0.953000	0.39169	0.908000	0.53690	3.943000	0.56621	2.162000	0.67917	0.533000	0.62120	TGC		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10191491	T	C	10191491	3	2	286	1	0	0	0	0	1	0	0	0	17167	1464	51	3	494	3	VHL	3	10191491	Missense_Mutation	SNP	T	TCGA-B8-5549-01A-01D-1534-10		10191491	187830939	17	17007											
SLC15A2	6565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121659238	121659238	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr3:121659238C>G	ENST00000489711.1	+	21	2304	c.1916C>G	c.(1915-1917)tCt>tGt	p.S639C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S608C	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	639					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.S639C(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CAGGCTCCCTCTAGCATGAAA	0.498																																																1	Substitution - Missense(1)	kidney(1)											132	117	122					3																	121659238		2203	4300	6503	SO:0001583	missense	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1916C>G	3.37:g.121659238C>G	ENSP00000417085:p.Ser639Cys		A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620849	0.66787	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.46451	0.87;0.87	5.19	3.36	0.38483	.	0.542707	0.20739	N	0.086577	T	0.58133	0.2101	M	0.85197	2.74	0.31445	N	0.671461	D;D	0.67145	0.996;0.981	P;P	0.57776	0.827;0.76	T	0.65792	-0.6082	10	0.66056	D	0.02	-13.3594	7.147	0.25589	0.0:0.7307:0.0:0.2693	.	608;639	B4E2A7;Q16348	.;S15A2_HUMAN	C	639;601;608	ENSP00000417085:S639C;ENSP00000295605:S608C	ENSP00000295605:S608C	S	+	2	0	SLC15A2	123141928	0.016000	0.18221	0.998000	0.56505	0.965000	0.64279	1.010000	0.29898	1.414000	0.47017	0.563000	0.77884	TCT		0.498	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		G	121659238	C	G	121659238	3	3	286	1	0	0	0	0	1	0	0	0	14405	913	32	4	1998	4	SLC15A2	3	121659238	Missense_Mutation	SNP	C	TCGA-B8-5549-01A-01D-1534-10	111467747	121659238	76363192	18	17008											
MAP3K13	9175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	185195185	185195185	+	Splice_Site	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr3:185195185G>A	ENST00000265026.3	+	12	2835		c.e12+1		MAP3K13_ENST00000535426.1_Splice_Site|MAP3K13_ENST00000443863.1_Splice_Site|TMEM41A_ENST00000475480.1_5'Flank|MAP3K13_ENST00000446828.1_Splice_Site|MAP3K13_ENST00000424227.1_Splice_Site	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.?(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAAGACAGAGGTAAAACCAAC	0.433																																																2	Unknown(2)	kidney(2)											122	116	118					3																	185195185		2203	4300	6503	SO:0001630	splice_region_variant	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2501+1G>A	3.37:g.185195185G>A				Splice_Site	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126314	0.77549	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2605	0.90034	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K13	186677879	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	9.302000	0.96175	2.753000	0.94483	0.462000	0.41574	.		0.433	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	Intron	A	185195185	G	A	185195185	5	1	286	1	0	0	0	0	0	0	1	0	9249	1275	44	2	2544	2	MAP3K13	3	185195185	Splice_Site	SNP	G	TCGA-B8-5549-01A-01D-1534-10	63535947	185195185	12827245	19	17009											
TBC1D9	23158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	141600356	141600356	+	Splice_Site	SNP	C	C	T	rs201813694		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr4:141600356C>T	ENST00000442267.2	-	5	665	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	197	GRAM 1.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.A197A(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGACCAGTTTCGCTGAGCACA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18189	0.0		0.001	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)						C		0,4080		0,0,2040	103	100	101		591	2.8	1	4		101	4,8386		0,4,4191	yes	coding-synonymous-near-splice	TBC1D9	NM_015130.2		0,4,6231	TT,TC,CC		0.0477,0.0,0.0321		197/1267	141600356	4,12466	2040	4195	6235	SO:0001630	splice_region_variant	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.590-1G>A	4.37:g.141600356C>T			A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	CCDS47136.1																																																																																				0.512	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	Silent	T	141600356	C	T	141600356	5	4	286	1	0	0	0	0	0	0	1	0	15632	898	31	1	3277	1	TBC1D9	4	141600356	Splice_Site	SNP	C	TCGA-B8-5549-01A-01D-1534-10		141600356	49553920	20	17010											
CDH18	1016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	19838883	19838883	+	Silent	SNP	A	A	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr5:19838883A>T	ENST00000507958.1	-	5	1203	c.213T>A	c.(211-213)ccT>ccA	p.P71P	CDH18_ENST00000506372.1_Silent_p.P71P|CDH18_ENST00000274170.4_Silent_p.P71P|CDH18_ENST00000511273.1_Silent_p.P71P|CDH18_ENST00000502796.1_Silent_p.P71P|CDH18_ENST00000382275.1_Silent_p.P71P			Q13634	CAD18_HUMAN	cadherin 18, type 2	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P71P(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CAACATACTGAGGATCTGGTC	0.388																																																2	Substitution - coding silent(2)	kidney(2)											113	100	104					5																	19838883		2203	4300	6503	SO:0001819	synonymous_variant	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.213T>A	5.37:g.19838883A>T			A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.388	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19838883	A	T	19838883	2	4	286	1	0	0	0	0	0	0	0	1	3105	291	11	5		5	CDH18	5	19838883	Silent	SNP	A	TCGA-B8-5549-01A-01D-1534-10		19838883	161076377	21	17011											
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	36985915	36985915	+	Frame_Shift_Del	DEL	G	G	-	rs374308470		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr5:36985915delG	ENST00000282516.8	+	10	3132	c.2633delG	c.(2632-2634)aggfs	p.R878fs	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Del_p.R878fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	878					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGGGACTCAAGGGAAAGACCA	0.363																																																0													51	52	52					5																	36985915		2203	4300	6503	SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2633delG	5.37:g.36985915delG	ENSP00000282516:p.Arg878fs		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	CCDS3920.1																																																																																				0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		-	36985915	G	-	36985915	7	5	286	1	0	1	0	1	0	0	0	0	10430	1000	35	0	2667	0	NIPBL	5	36985915	Frame_Shift_Del	DEL	G	TCGA-B8-5549-01A-01D-1534-10	17147032	36985915	143929345	22	17012											
KIF20A	10112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137520633	137520633	+	Silent	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr5:137520633C>T	ENST00000394894.3	+	14	2047	c.1821C>T	c.(1819-1821)tgC>tgT	p.C607C	KIF20A_ENST00000508792.1_Silent_p.C589C	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	607					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.C607C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACAGTGGTGCAGGTACTAGC	0.493																																																1	Substitution - coding silent(1)	kidney(1)											120	115	117					5																	137520633		2203	4300	6503	SO:0001819	synonymous_variant	10112			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1821C>T	5.37:g.137520633C>T			B4DL79|D3DQB6	Silent	SNP	ENST00000394894.3	37	CCDS4199.1																																																																																				0.493	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		T	137520633	C	T	137520633	2	4	286	1	0	0	0	0	0	0	0	1	8288	718	25	2		2	KIF20A	5	137520633	Silent	SNP	C	TCGA-B8-5549-01A-01D-1534-10	100534718	137520633	43394627	23	17013											
ZNF300	91975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150276178	150276179	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr5:150276178_150276179insA	ENST00000274599.5	-	6	1042_1043	c.622_623insT	c.(622-624)tcafs	p.S208fs	ZNF300_ENST00000394226.2_Frame_Shift_Ins_p.S208fs|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Frame_Shift_Ins_p.S224fs|ZNF300_ENST00000418587.2_Frame_Shift_Ins_p.S172fs	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTTTTCTTGAATTGCTCTTA	0.327																																																0																																										SO:0001589	frameshift_variant	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.623dupT	5.37:g.150276180_150276180dupA	ENSP00000274599:p.Ser208fs		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Frame_Shift_Ins	INS	ENST00000274599.5	37	CCDS4311.2																																																																																				0.327	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		A	150276179	-	A	150276178	7	5	286	1	0	1	1	0	0	0	0	0	17836	1294	45	0	1195	0	ZNF300	5	150276178	Frame_Shift_Ins	INS	-	TCGA-B8-5549-01A-01D-1534-10	12755545	150276178	30639082	24	17014											
CCNJL	79616	broad.mit.edu	37	5	159680605	159680605	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr5:159680605G>T	ENST00000393977.3	-	7	1373	c.1088C>A	c.(1087-1089)gCc>gAc	p.A363D	CCNJL_ENST00000257536.7_Missense_Mutation_p.A315D|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	363						nucleus (GO:0005634)		p.A363D(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGGTGGGCCTGCAAGGA	0.667																																																2	Substitution - Missense(2)	endometrium(1)|kidney(1)											53	60	57					5																	159680605		2044	4187	6231	SO:0001583	missense	79616			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1088C>A	5.37:g.159680605G>T	ENSP00000377547:p.Ala363Asp		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939150	0.18281	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.31769	1.89;1.48	5.0	4.13	0.48395	.	0.792845	0.11837	N	0.524672	T	0.26991	0.0661	L	0.47716	1.5	0.80722	D	1	P;P	0.39216	0.664;0.498	B;B	0.36335	0.157;0.222	T	0.01863	-1.1258	10	0.24483	T	0.36	-12.6043	11.4363	0.50070	0.0854:0.0:0.9146:0.0	.	315;363	B4DZA8;Q8IV13	.;CCNJL_HUMAN	D	363;315	ENSP00000377547:A363D;ENSP00000257536:A315D	ENSP00000257536:A315D	A	-	2	0	CCNJL	159613183	0.995000	0.38212	0.944000	0.38274	0.174000	0.22865	2.476000	0.45171	1.099000	0.41499	0.655000	0.94253	GCC		0.667	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		T	159680605	G	T	159680605	3	4	286	1	0	0	0	0	1	0	0	0	2931	1203	42	4	223	4	CCNJL	5	159680605	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10	9404427	159680605	21234655	25	17015											
PGBD1	84547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28251758	28251758	+	Silent	SNP	C	C	T	rs370251891		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr6:28251758C>T	ENST00000405948.2	+	2	588	c.168C>T	c.(166-168)caC>caT	p.H56H	PGBD1_ENST00000259883.3_Silent_p.H56H	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	56	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.					membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H56H(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGGAGGCTCACGGACCCCAGG	0.582																																																1	Substitution - coding silent(1)	kidney(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	73	71	72		168,168	-8.7	0	6		72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PGBD1	NM_001184743.1,NM_032507.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	56/810,56/810	28251758	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.168C>T	6.37:g.28251758C>T			Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	CCDS4648.1																																																																																				0.582	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			T	28251758	C	T	28251758	2	4	286	1	0	0	0	0	0	0	0	1	11782	535	19	1		1	PGBD1	6	28251758	Silent	SNP	C	TCGA-B8-5549-01A-01D-1534-10		28251758	142863309	26	17016											
SCAND3	114821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28543685	28543685	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr6:28543685T>A	ENST00000452236.2	-	3	1414	c.797A>T	c.(796-798)gAa>gTa	p.E266V	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.E266V(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTCAACTGATTCCTTTTTCGC	0.353																																																1	Substitution - Missense(1)	kidney(1)											192	187	189					6																	28543685		2203	4300	6503	SO:0001583	missense	114821																														ENST00000452236.2:c.797A>T	6.37:g.28543685T>A	ENSP00000395259:p.Glu266Val			Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.128817	0.56721	.	.	ENSG00000232040	ENST00000452236	T	0.01495	4.83	2.54	2.54	0.30619	.	.	.	.	.	T	0.00695	0.0023	N	0.19112	0.55	0.24055	N	0.996033	P	0.35383	0.498	B	0.40444	0.329	T	0.51403	-0.8710	9	0.56958	D	0.05	.	7.0144	0.24881	0.0:0.0:0.0:1.0	.	266	Q6R2W3	SCND3_HUMAN	V	266	ENSP00000395259:E266V	ENSP00000395259:E266V	E	-	2	0	SCAND3	28651664	0.651000	0.27340	0.998000	0.56505	0.994000	0.84299	1.244000	0.32778	1.419000	0.47118	0.477000	0.44152	GAA		0.353	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			A	28543685	T	A	28543685	3	1	286	1	0	0	0	0	1	0	0	0	13882	1783	62	5	3188	5	SCAND3	6	28543685	Missense_Mutation	SNP	T	TCGA-B8-5549-01A-01D-1534-10	291927	28543685	142571382	27	17017											
UNC5CL	222643	broad.mit.edu	37	6	41001862	41001862	+	Silent	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr6:41001862C>T	ENST00000373164.1	-	2	504	c.444G>A	c.(442-444)tcG>tcA	p.S148S	UNC5CL_ENST00000244565.3_Silent_p.S148S|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	148	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.S148S(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATGGGGCGTCCGACAGGTCCC	0.657																																																1	Substitution - coding silent(1)	kidney(1)											29	31	30					6																	41001862		2203	4299	6502	SO:0001819	synonymous_variant	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.444G>A	6.37:g.41001862C>T			Q5TGU1	Silent	SNP	ENST00000373164.1	37	CCDS4847.1																																																																																				0.657	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		T	41001862	C	T	41001862	2	4	286	1	0	0	0	0	0	0	0	1	16999	639	23	1		1	UNC5CL	6	41001862	Silent	SNP	C	TCGA-B8-5549-01A-01D-1534-10	12458177	41001862	130113205	28	17018											
TAAR9	134860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132859640	132859640	+	RNA	SNP	T	T	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr6:132859640T>A	ENST00000434551.1	+	0	212					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		AACTTTCTGATTGCGTCGCTG	0.507																																					Colon(10;433 445 15992 45047 47213)											0													170	166	167					6																	132859640		2170	4282	6452			134860			AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"GPCR / Class A : Trace amine associated receptors"	20977	protein-coding gene	gene with protein product		608282	"trace amine receptor 3", "trace amine associated receptor 9"	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859640T>A				Missense_Mutation	SNP	ENST00000434551.1	37																																																																																					0.507	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		A	132859640	T	A	132859640	1	1	286	0	1	0	0	0	0	0	0	0	15499	1493	52	5		5	TAAR9	6	132859640	RNA	SNP	T	TCGA-B8-5549-01A-01D-1534-10	91857778	132859640	38255427	29	17019											
SNX10	29887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	26411530	26411530	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr7:26411530delT	ENST00000338523.4	+	6	588	c.401delT	c.(400-402)gttfs	p.V134fs	AC004540.4_ENST00000451368.1_RNA|SNX10_ENST00000409367.1_Frame_Shift_Del_p.V94fs|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000446848.2_Frame_Shift_Del_p.V160fs|SNX10_ENST00000396376.1_Frame_Shift_Del_p.V134fs|SNX10_ENST00000409838.1_Frame_Shift_Del_p.V50fs|AC004540.4_ENST00000451264.1_RNA	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	134					cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						GAGGCGTGTGTTTCTGGGCAG	0.388																																																0													128	123	125					7																	26411530		2203	4300	6503	SO:0001589	frameshift_variant	29887			AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"Sorting nexins"	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.401delT	7.37:g.26411530delT	ENSP00000343709:p.Val134fs		E9PFH5|Q8IYT5	Frame_Shift_Del	DEL	ENST00000338523.4	37	CCDS5399.1																																																																																				0.388	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			-	26411530	T	-	26411530	7	5	286	1	0	1	0	1	0	0	0	0	14887	1725	60	0	419	0	SNX10	7	26411530	Frame_Shift_Del	DEL	T	TCGA-B8-5549-01A-01D-1534-10		26411530	132727133	30	17020											
EPHB4	2050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100411570	100411570	+	Silent	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr7:100411570C>T	ENST00000358173.3	-	9	2130	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V	EPHB4_ENST00000360620.3_Silent_p.V554V|EPHB4_ENST00000477446.1_5'Flank	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	554					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V554V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCACAATGACCACCAGGACCA	0.642																																					GBM(200;2113 3072 25865 52728)											1	Substitution - coding silent(1)	kidney(1)											118	93	101					7																	100411570		2203	4300	6503	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1662G>A	7.37:g.100411570C>T			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	CCDS5706.1																																																																																				0.642	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		T	100411570	C	T	100411570	2	4	286	1	0	0	0	0	0	0	0	1	5179	581	21	2		2	EPHB4	7	100411570	Silent	SNP	C	TCGA-B8-5549-01A-01D-1534-10	74000040	100411570	58727093	31	17021											
KIAA1147	57189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	141365016	141365016	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr7:141365016C>A	ENST00000536163.1	-	6	922	c.923G>T	c.(922-924)aGc>aTc	p.S308I	RP5-894A10.6_ENST00000602609.1_RNA|KIAA1147_ENST00000482493.1_Missense_Mutation_p.S204I	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	308								p.S308I(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TACCTCCAGGCTCTCGATGTC	0.602																																																1	Substitution - Missense(1)	kidney(1)											75	80	79					7																	141365016		2107	4229	6336	SO:0001583	missense	57189			AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.923G>T	7.37:g.141365016C>A	ENSP00000445768:p.Ser308Ile		Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034294	0.35893	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	4.8	1.94	0.25998	.	0.343237	0.37577	N	0.002024	T	0.19805	0.0476	L	0.29908	0.895	0.28855	N	0.895817	B	0.28584	0.216	B	0.30716	0.119	T	0.11641	-1.0579	9	0.22109	T	0.4	-10.9536	1.6466	0.02763	0.1834:0.4083:0.2399:0.1683	.	308	A4D1U4	LCHN_HUMAN	I	308;204	.	ENSP00000297761:S308I	S	-	2	0	KIAA1147	141011485	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.214000	0.51161	0.083000	0.17047	0.655000	0.94253	AGC		0.602	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			A	141365016	C	A	141365016	3	1	286	1	0	0	0	0	1	0	0	0	8212	797	28	4	460	4	KIAA1147	7	141365016	Missense_Mutation	SNP	C	TCGA-B8-5549-01A-01D-1534-10	40953446	141365016	17773647	32	17022											
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	77776702	77776702	+	Silent	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr8:77776702G>A	ENST00000521891.2	+	11	11200	c.10752G>A	c.(10750-10752)aaG>aaA	p.K3584K	ZFHX4_ENST00000050961.6_Silent_p.K3535K|ZFHX4_ENST00000455469.2_Silent_p.K3539K|ZFHX4_ENST00000518282.1_Silent_p.K3558K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.K3568K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAGCCAGAAGCTAGAAGACT	0.453										HNSCC(33;0.089)																																						1	Substitution - coding silent(1)	kidney(1)											59	58	59					8																	77776702		2027	4207	6234	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10752G>A	8.37:g.77776702G>A			G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.453	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77776702	G	A	77776702	2	1	286	1	0	0	0	0	0	0	0	1	17640	962	34	2		2	ZFHX4	8	77776702	Silent	SNP	G	TCGA-B8-5549-01A-01D-1534-10		77776702	68587320	33	17023											
FAM135B	51059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	139164359	139164359	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr8:139164359C>A	ENST00000395297.1	-	13	2529	c.2359G>T	c.(2359-2361)Gac>Tac	p.D787Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	787								p.D787Y(2)|p.D787N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCTTGGTGTCCGCATCTTCA	0.522										HNSCC(54;0.14)																																						4	Substitution - Missense(4)	breast(2)|kidney(2)											48	48	48					8																	139164359		2203	4300	6503	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2359G>T	8.37:g.139164359C>A	ENSP00000378710:p.Asp787Tyr		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078166	0.55753	.	.	ENSG00000147724	ENST00000395297	T	0.16324	2.35	5.43	5.43	0.79202	.	0.751873	0.13391	N	0.391387	T	0.32255	0.0823	L	0.34521	1.04	0.09310	N	1	D;D;P	0.76494	0.999;0.999;0.948	D;D;P	0.66351	0.943;0.912;0.62	T	0.16070	-1.0415	10	0.72032	D	0.01	-7.1553	16.4153	0.83731	0.0:1.0:0.0:0.0	.	787;787;787	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	Y	787	ENSP00000378710:D787Y	ENSP00000276737:D787Y	D	-	1	0	FAM135B	139233541	0.031000	0.19500	0.005000	0.12908	0.001000	0.01503	2.627000	0.46469	2.557000	0.86248	0.655000	0.94253	GAC		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		A	139164359	C	A	139164359	3	1	286	1	0	0	0	0	1	0	0	0	5451	855	30	4	1893	4	FAM135B	8	139164359	Missense_Mutation	SNP	C	TCGA-B8-5549-01A-01D-1534-10	61387657	139164359	7199663	34	17024											
MPDZ	8777	hgsc.bcm.edu;ucsc.edu	37	9	13206010	13206011	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:13206010_13206011insTT	ENST00000319217.7	-	11	1625_1626	c.1378_1379insAA	c.(1378-1380)atgfs	p.M460fs	MPDZ_ENST00000381022.2_Frame_Shift_Ins_p.M460fs|MPDZ_ENST00000447879.1_Frame_Shift_Ins_p.M460fs|MPDZ_ENST00000541718.1_Frame_Shift_Ins_p.M460fs|MPDZ_ENST00000381015.4_Frame_Shift_Ins_p.M460fs|MPDZ_ENST00000546205.1_Frame_Shift_Ins_p.M460fs|MPDZ_ENST00000536827.1_Frame_Shift_Ins_p.M460fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	460	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCTCTCCTCATTAGTGTCAGG	0.431																																																0																																										SO:0001589	frameshift_variant	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1377_1378dupAA	9.37:g.13206011_13206012dupTT	ENSP00000320006:p.Met460fs		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Frame_Shift_Ins	INS	ENST00000319217.7	37																																																																																					0.431	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		TT	13206011	-	TT	13206010	7	5	286	1	0	1	1	0	0	0	0	0	9724	217	8	0	4890	0	MPDZ	9	13206010	Frame_Shift_Ins	INS	-	TCGA-B8-5549-01A-01D-1534-10		13206010	128007421	35	17025											
ZCCHC6	79670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	88938408	88938408	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:88938408C>G	ENST00000375963.3	-	13	2429	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E630Q|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.E42Q|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E753Q|ZCCHC6_ENST00000469004.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	753					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.E753Q(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CCAACTTTCTCTTTCTCGTTT	0.438																																																1	Substitution - Missense(1)	kidney(1)											277	246	256					9																	88938408		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2257G>C	9.37:g.88938408C>G	ENSP00000365130:p.Glu753Gln		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003834	0.54254	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.59638	0.25;0.61;0.7;0.71	4.42	0.144	0.14824	.	1.312490	0.04889	N	0.449231	T	0.40595	0.1123	L	0.27053	0.805	0.09310	N	1	B;B	0.33238	0.403;0.18	B;B	0.28849	0.087;0.095	T	0.27806	-1.0063	10	0.48119	T	0.1	-19.795	3.798	0.08747	0.3086:0.4038:0.0:0.2876	.	630;753	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	Q	42;630;753;753	ENSP00000277141:E42Q;ENSP00000365127:E630Q;ENSP00000365128:E753Q;ENSP00000365130:E753Q	ENSP00000277141:E42Q	E	-	1	0	ZCCHC6	88128228	0.586000	0.26782	0.004000	0.12327	0.293000	0.27360	1.209000	0.32357	-0.076000	0.12775	0.650000	0.86243	GAG		0.438	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		G	88938408	C	G	88938408	3	3	286	1	0	0	0	0	1	0	0	0	17597	922	32	4	2290	4	ZCCHC6	9	88938408	Missense_Mutation	SNP	C	TCGA-B8-5549-01A-01D-1534-10	75732398	88938408	52275023	36	17026											
SLC35D2	11046	hgsc.bcm.edu	37	9	99126831	99126831	+	Splice_Site	SNP	A	A	G	rs147633936		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:99126831A>G	ENST00000253270.7	-	3	256	c.194T>C	c.(193-195)aTg>aCg	p.M65T	SLC35D2_ENST00000375259.4_Splice_Site_p.M65T|SLC35D2_ENST00000375257.1_Splice_Site_p.M65T|SLC35D2_ENST00000482643.1_5'UTR	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	65					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				GGTGGCTGCCATCTGAAGAAA	0.338																																																0								A	THR/MET	1,4405	2.1+/-5.4	0,1,2202	97	105	103		194	4.7	1	9	dbSNP_134	103	0,8600		0,0,4300	no	missense-near-splice	SLC35D2	NM_007001.2	81	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	65/338	99126831	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	11046			AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"Solute carriers"	20799	protein-coding gene	gene with protein product		609182	"solute carrier family 35, member D2"			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.193-1T>C	9.37:g.99126831A>G			O95454|Q498C1|Q75W21|Q7Z5X5	Missense_Mutation	SNP	ENST00000253270.7	37	CCDS6717.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230948	0.58777	2.27E-4	0.0	ENSG00000130958	ENST00000253270;ENST00000375259;ENST00000375257	T;T;T	0.68181	0.42;-0.27;-0.31	4.68	4.68	0.58851	.	0.043436	0.85682	D	0.000000	T	0.76807	0.4039	M	0.73962	2.25	0.43846	D	0.996436	D;P;P	0.53462	0.96;0.681;0.63	D;B;P	0.64144	0.922;0.295;0.459	T	0.74028	-0.3796	10	0.18276	T	0.48	.	11.7663	0.51933	1.0:0.0:0.0:0.0	.	65;65;65	Q76EJ3-2;Q5VZJ2;Q76EJ3	.;.;S35D2_HUMAN	T	65	ENSP00000253270:M65T;ENSP00000364408:M65T;ENSP00000364406:M65T	ENSP00000253270:M65T	M	-	2	0	SLC35D2	98166652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.897000	0.63231	1.961000	0.56991	0.460000	0.39030	ATG		0.338	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1		Missense_Mutation	G	99126831	A	G	99126831	5	3	286	1	0	0	0	0	0	0	1	0	14588	231	8	3	859	3	SLC35D2	9	99126831	Splice_Site	SNP	A	TCGA-B8-5549-01A-01D-1534-10	10188423	99126831	42086600	37	17027											
ZNF189	7743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104162271	104162271	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:104162271T>C	ENST00000339664.2	+	2	268	c.139T>C	c.(139-141)Tat>Cat	p.Y47H	ZNF189_ENST00000374861.3_Missense_Mutation_p.Y33H|MRPL50_ENST00000374865.4_5'Flank|ZNF189_ENST00000259395.4_Missense_Mutation_p.Y5H|MRPL50_ENST00000539624.1_5'Flank	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y47H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GATGGAGAATTATGGAAACCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											126	127	127					9																	104162271		2203	4300	6503	SO:0001583	missense	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.139T>C	9.37:g.104162271T>C	ENSP00000342019:p.Tyr47His		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.819847	0.71028	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.07800	4.27;4.27;3.16	4.79	4.79	0.61399	Krueppel-associated box (4);	0.191487	0.25958	N	0.027201	T	0.28830	0.0715	M	0.90759	3.145	0.31294	N	0.689039	P;P;D	0.63046	0.832;0.881;0.992	P;B;P	0.57204	0.546;0.275;0.815	T	0.45862	-0.9232	10	0.56958	D	0.05	.	12.5863	0.56419	0.0:0.0:0.0:1.0	.	32;33;47	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	H	33;47;5	ENSP00000363995:Y33H;ENSP00000342019:Y47H;ENSP00000259395:Y5H	ENSP00000259395:Y5H	Y	+	1	0	ZNF189	103202092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.061000	0.57485	2.143000	0.66587	0.528000	0.53228	TAT		0.413	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		C	104162271	T	C	104162271	3	2	286	1	0	0	0	0	1	0	0	0	17759	1754	61	3	145	3	ZNF189	9	104162271	Missense_Mutation	SNP	T	TCGA-B8-5549-01A-01D-1534-10	5035440	104162271	37051160	38	17028											
TMEM38B	55151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	108483903	108483903	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:108483903G>C	ENST00000374692.3	+	3	472	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	TMEM38B_ENST00000374688.1_Missense_Mutation_p.E65Q	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	119						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.E119Q(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GGGAATGAAGGAAGTGACCAG	0.418																																																1	Substitution - Missense(1)	kidney(1)											95	88	90					9																	108483903		2203	4300	6503	SO:0001583	missense	55151			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.355G>C	9.37:g.108483903G>C	ENSP00000363824:p.Glu119Gln		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	CCDS6768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.810746|4.810746	0.90707|0.90707	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000374692;ENST00000374688|ENST00000435034	T;T|.	0.60040|.	0.51;0.22|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.047470|.	0.85682|.	D|.	0.000000|.	T|T	0.79209|0.79209	0.4407|0.4407	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.68039|.	0.955|.	T|T	0.79200|0.79200	-0.1901|-0.1901	10|5	0.72032|.	D|.	0.01|.	-16.2888|-16.2888	18.9027|18.9027	0.92449|0.92449	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	119|.	Q9NVV0|.	TM38B_HUMAN|.	Q|S	119;65|55	ENSP00000363824:E119Q;ENSP00000363820:E65Q|.	ENSP00000363820:E65Q|.	E|R	+|+	1|3	0|2	TMEM38B|TMEM38B	107523724|107523724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	8.885000|8.885000	0.92439|0.92439	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GAA|AGG		0.418	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		C	108483903	G	C	108483903	3	2	286	1	0	0	0	0	1	0	0	0	16165	1175	41	4	365	4	TMEM38B	9	108483903	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10	4321632	108483903	32729528	39	17029											
OR1L3	26735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125437494	125437494	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:125437494C>T	ENST00000304820.2	+	1	180	c.86C>T	c.(85-87)gCc>gTc	p.A29V		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A29V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CCACTCTTTGCCCTCTTTCTT	0.448																																																1	Substitution - Missense(1)	kidney(1)											131	130	130					9																	125437494		2203	4300	6503	SO:0001583	missense	26735				CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"GPCR / Class A : Olfactory receptors"	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.86C>T	9.37:g.125437494C>T	ENSP00000302863:p.Ala29Val		B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	C	6.947	0.544609	0.13312	.	.	ENSG00000171481	ENST00000304820	T	0.00384	7.6	4.54	-0.483	0.12075	.	0.867182	0.09481	N	0.796358	T	0.00144	0.0004	N	0.04260	-0.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.05419	-1.0886	10	0.19590	T	0.45	-0.1243	5.2396	0.15464	0.0:0.4286:0.145:0.4264	.	29	Q8NH93	OR1L3_HUMAN	V	29	ENSP00000302863:A29V	ENSP00000302863:A29V	A	+	2	0	OR1L3	124477315	0.000000	0.05858	0.993000	0.49108	0.951000	0.60555	-0.677000	0.05215	0.108000	0.17862	0.644000	0.83932	GCC		0.448	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			T	125437494	C	T	125437494	3	4	286	1	0	0	0	0	1	0	0	0	10966	739	26	2	88	2	OR1L3	9	125437494	Missense_Mutation	SNP	C	TCGA-B8-5549-01A-01D-1534-10	16953591	125437494	15775937	40	17030											
GOLGA1	2800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	127650593	127650593	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:127650593T>G	ENST00000373555.4	-	19	2177	c.1844A>C	c.(1843-1845)gAt>gCt	p.D615A	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	615					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.D615A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CTGTGTGAGATCCATGGCCCC	0.527																																																1	Substitution - Missense(1)	kidney(1)											291	237	255					9																	127650593		2203	4300	6503	SO:0001583	missense	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1844A>C	9.37:g.127650593T>G	ENSP00000362656:p.Asp615Ala		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412416	0.62511	.	.	ENSG00000136935	ENST00000373555	T	0.27104	1.69	5.06	3.9	0.45041	.	0.487563	0.17076	N	0.187981	T	0.20170	0.0485	L	0.48642	1.525	0.46849	D	0.999222	B	0.28713	0.22	B	0.25140	0.058	T	0.02975	-1.1087	10	0.14656	T	0.56	-7.743	10.6444	0.45610	0.0:0.0804:0.0:0.9196	.	615	Q92805	GOGA1_HUMAN	A	615	ENSP00000362656:D615A	ENSP00000362656:D615A	D	-	2	0	GOLGA1	126690414	0.976000	0.34144	0.255000	0.24374	0.410000	0.31052	2.673000	0.46858	2.040000	0.60383	0.363000	0.22086	GAT		0.527	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		G	127650593	T	G	127650593	3	3	286	1	0	0	0	0	1	0	0	0	6553	1435	50	5	479	5	GOLGA1	9	127650593	Missense_Mutation	SNP	T	TCGA-B8-5549-01A-01D-1534-10	2213099	127650593	13562838	41	17031											
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61833421	61833421	+	Silent	SNP	A	A	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr10:61833421A>G	ENST00000280772.2	-	37	7409	c.7218T>C	c.(7216-7218)taT>taC	p.Y2406Y	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2406					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Y2406Y(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGACTCCAGATAAGAAGGCA	0.423																																																1	Substitution - coding silent(1)	kidney(1)											63	64	64					10																	61833421		2203	4300	6503	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7218T>C	10.37:g.61833421A>G			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		G	61833421	A	G	61833421	2	3	286	1	0	0	0	0	0	0	0	1	622	340	12	3		3	ANK3	10	61833421	Silent	SNP	A	TCGA-B8-5549-01A-01D-1534-10		61833421	73701326	42	17032											
DCHS1	8642	broad.mit.edu	37	11	6643734	6643734	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr11:6643734G>A	ENST00000299441.3	-	21	9584	c.9173C>T	c.(9172-9174)tCc>tTc	p.S3058F	RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3058					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3058F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCAGAGAGGAGGCCACACT	0.582																																																1	Substitution - Missense(1)	kidney(1)											23	17	19					11																	6643734		2195	4285	6480	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9173C>T	11.37:g.6643734G>A	ENSP00000299441:p.Ser3058Phe		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536759	0.65085	.	.	ENSG00000166341	ENST00000299441	T	0.59224	0.28	4.62	4.62	0.57501	.	0.000000	0.37178	N	0.002213	T	0.70090	0.3184	L	0.52905	1.665	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.73455	-0.3977	10	0.66056	D	0.02	.	16.6148	0.84904	0.0:0.0:1.0:0.0	.	3058	Q96JQ0	PCD16_HUMAN	F	3058	ENSP00000299441:S3058F	ENSP00000299441:S3058F	S	-	2	0	DCHS1	6600310	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.755000	0.85180	2.394000	0.81467	0.462000	0.41574	TCC		0.582	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		A	6643734	G	A	6643734	3	1	286	1	0	0	0	0	1	0	0	0	4289	1174	41	2	727	2	DCHS1	11	6643734	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10		6643734	128362782	43	17033											
ATF7IP	55729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14613931	14613931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:14613931delT	ENST00000540793.1	+	8	2816	c.2661delT	c.(2659-2661)actfs	p.T887fs	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Frame_Shift_Del_p.T886fs|ATF7IP_ENST00000261168.4_Frame_Shift_Del_p.T887fs|ATF7IP_ENST00000544627.1_Frame_Shift_Del_p.T895fs|ATF7IP_ENST00000536444.1_Frame_Shift_Del_p.T886fs			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	887					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CCACAAGGACTTCTTTACCCA	0.458																																																0													54	52	53					12																	14613931		2203	4300	6503	SO:0001589	frameshift_variant	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2661delT	12.37:g.14613931delT	ENSP00000444589:p.Thr887fs		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Frame_Shift_Del	DEL	ENST00000540793.1	37	CCDS8663.1																																																																																				0.458	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		-	14613931	T	-	14613931	7	5	286	1	0	1	0	1	0	0	0	0	1087	1596	56	0	2691	0	ATF7IP	12	14613931	Frame_Shift_Del	DEL	T	TCGA-B8-5549-01A-01D-1534-10		14613931	119237964	44	17034											
SYT10	341359	hgsc.bcm.edu	37	12	33579216	33579217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:33579216_33579217insG	ENST00000228567.3	-	2	661_662	c.365_366insC	c.(364-366)ccafs	p.P122fs	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	122					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTTTTACGGCTGGCTTTTCATT	0.391																																																0																																										SO:0001589	frameshift_variant	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.366dupC	12.37:g.33579218_33579218dupG	ENSP00000228567:p.Pro122fs		Q495U2	Frame_Shift_Ins	INS	ENST00000228567.3	37	CCDS8732.1																																																																																				0.391	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		G	33579217	-	G	33579216	7	5	286	1	0	1	1	0	0	0	0	0	15471	1567	55	0	1229	0	SYT10	12	33579216	Frame_Shift_Ins	INS	-	TCGA-B8-5549-01A-01D-1534-10	18965285	33579216	100272679	45	17035											
SMARCC2	6601	broad.mit.edu	37	12	56558430	56558430	+	Silent	SNP	A	A	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:56558430A>C	ENST00000267064.4	-	27	3311	c.3225T>G	c.(3223-3225)ggT>ggG	p.G1075G	SMARCC2_ENST00000347471.4_Splice_Site|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Splice_Site|SMARCC2_ENST00000550164.1_Silent_p.G1106G	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1075	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.G1075G(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGGAGCATTACCCGCCACGC	0.567																																																2	Substitution - coding silent(2)	kidney(2)											57	53	55					12																	56558430		2203	4300	6503	SO:0001819	synonymous_variant	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3225T>G	12.37:g.56558430A>C			F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.841392	0.71488	.	.	ENSG00000139613	ENST00000394023;ENST00000347471	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7728	0.63036	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCC2	54844697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.668000	0.68074	2.045000	0.60652	0.455000	0.32223	.		0.567	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			C	56558430	A	C	56558430	2	2	286	1	0	0	0	0	0	0	0	1	14782	405	14	5		5	SMARCC2	12	56558430	Silent	SNP	A	TCGA-B8-5549-01A-01D-1534-10	22979214	56558430	77293465	46	17036											
AMDHD1	144193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96360253	96360253	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:96360253A>G	ENST00000266736.2	+	8	1266	c.1160A>G	c.(1159-1161)aAa>aGa	p.K387R		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	387					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)	p.K387R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GAAGTTGGCAAACAGGGAGAT	0.473																																																1	Substitution - Missense(1)	kidney(1)											242	221	228					12																	96360253		2203	4300	6503	SO:0001583	missense	144193			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.1160A>G	12.37:g.96360253A>G	ENSP00000266736:p.Lys387Arg		A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	A	31	5.080010	0.94050	.	.	ENSG00000139344	ENST00000266736	D	0.82167	-1.58	5.82	5.82	0.92795	Amidohydrolase 3 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.67625	2.065	0.80722	D	1	D	0.58620	0.983	P	0.58013	0.831	D	0.87946	0.2720	10	0.42905	T	0.14	-5.6723	16.1778	0.81874	1.0:0.0:0.0:0.0	.	387	Q96NU7	HUTI_HUMAN	R	387	ENSP00000266736:K387R	ENSP00000266736:K387R	K	+	2	0	AMDHD1	94884384	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	8.962000	0.93254	2.225000	0.72522	0.459000	0.35465	AAA		0.473	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		G	96360253	A	G	96360253	3	3	286	1	0	0	0	0	1	0	0	0	567	14	1	3	1190	3	AMDHD1	12	96360253	Missense_Mutation	SNP	A	TCGA-B8-5549-01A-01D-1534-10	39801823	96360253	37491642	47	17037											
RILPL1	353116	broad.mit.edu	37	12	123957223	123957223	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:123957223G>T	ENST00000376874.4	-	7	1309	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	RILPL1_ENST00000544468.1_Missense_Mutation_p.S31R|RILPL1_ENST00000340724.6_Missense_Mutation_p.S238R|SNRNP35_ENST00000527158.2_3'UTR	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	358					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)		p.S358R(3)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGGAGAAGAAGCTAAACCTTT	0.498																																																3	Substitution - Missense(3)	kidney(2)|endometrium(1)											65	63	63					12																	123957223		1944	4154	6098	SO:0001583	missense	353116			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.1074C>A	12.37:g.123957223G>T	ENSP00000366070:p.Ser358Arg		Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028945	0.75504	.	.	ENSG00000188026	ENST00000376874;ENST00000340724;ENST00000544468	T;T;T	0.27720	1.65;1.65;1.65	5.47	4.47	0.54385	.	.	.	.	.	T	0.37892	0.1020	L	0.29908	0.895	0.51767	D	0.999936	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.991	T	0.11717	-1.0576	9	0.49607	T	0.09	-0.9352	6.5327	0.22336	0.2105:0.0:0.7895:0.0	.	358;207	Q5EBL4;Q5EBL4-3	RIPL1_HUMAN;.	R	358;238;31	ENSP00000366070:S358R;ENSP00000345874:S238R;ENSP00000442991:S31R	ENSP00000345874:S238R	S	-	3	2	RILPL1	122523176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	2.566000	0.86566	0.655000	0.94253	AGC		0.498	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		T	123957223	G	T	123957223	3	4	286	1	0	0	0	0	1	0	0	0	13367	962	34	4	141	4	RILPL1	12	123957223	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10	27596970	123957223	9894672	48	17038											
ANKLE2	23141	hgsc.bcm.edu;ucsc.edu	37	12	133324430	133324432	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	GGT	GGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:133324430_133324432delGGT	ENST00000357997.5	-	5	1305_1307	c.1216_1218delACC	c.(1216-1218)accdel	p.T406del	ANKLE2_ENST00000337516.5_In_Frame_Del_p.T406del|ANKLE2_ENST00000539605.1_In_Frame_Del_p.T344del	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	406					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTTGTCGGGGGTGTTGAGGTAC	0.493																																																0																																										SO:0001651	inframe_deletion	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1216_1218delACC	12.37:g.133324430_133324432delGGT	ENSP00000350686:p.Thr406del		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	In_Frame_Del	DEL	ENST00000357997.5	37	CCDS41869.1																																																																																				0.493	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			-	133324432	GGT	-	133324430	7	5	286	1	0	1	0	1	0	0	0	0	633	1219	43	0	1634	0	ANKLE2	12	133324430	In_Frame_Del	DEL	GGT	TCGA-B8-5549-01A-01D-1534-10	9367207	133324430	527465	49	17039											
SACS	26278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	23915483	23915483	+	Silent	SNP	T	T	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr13:23915483T>G	ENST00000382292.3	-	9	2805	c.2532A>C	c.(2530-2532)gtA>gtC	p.V844V	SACS_ENST00000402364.1_Silent_p.V94V|SACS_ENST00000382298.3_Silent_p.V844V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	844					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.V844V(1)|p.V697V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTTTTTGTACAATGTCTG	0.358																																																2	Substitution - coding silent(2)	kidney(2)											78	82	81					13																	23915483		2203	4300	6503	SO:0001819	synonymous_variant	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2532A>C	13.37:g.23915483T>G			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		G	23915483	T	G	23915483	2	3	286	1	0	0	0	0	0	0	0	1	13810	1625	57	5		5	SACS	13	23915483	Silent	SNP	T	TCGA-B8-5549-01A-01D-1534-10		23915483	91254395	50	17040											
PARP4	143	hgsc.bcm.edu;ucsc.edu	37	13	25021323	25021323	+	Splice_Site	SNP	A	A	G	rs73172125		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr13:25021323A>G	ENST00000381989.3	-	26	3221	c.3116T>C	c.(3115-3117)aTa>aCa	p.I1039T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1039	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I1039T(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTGGTCTTCTATCTATTTATA	0.408																																																2	Substitution - Missense(2)	prostate(1)|stomach(1)											40	41	41					13																	25021323		2203	4300	6503	SO:0001630	splice_region_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3115-1T>C	13.37:g.25021323A>G			O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297585	0.60086	.	.	ENSG00000102699	ENST00000381989	T	0.23147	1.92	4.69	4.69	0.59074	von Willebrand factor, type A (2);	0.215738	0.48767	D	0.000175	T	0.42177	0.1191	M	0.79475	2.455	0.40246	D	0.978015	P	0.45348	0.856	P	0.51055	0.657	T	0.48222	-0.9054	10	0.72032	D	0.01	-21.476	12.4624	0.55738	1.0:0.0:0.0:0.0	.	1039	Q9UKK3	PARP4_HUMAN	T	1039	ENSP00000371419:I1039T	ENSP00000371419:I1039T	I	-	2	0	PARP4	23919323	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.226000	0.58606	2.105000	0.64084	0.514000	0.50259	ATA		0.408	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	Missense_Mutation	G	25021323	A	G	25021323	5	3	286	1	0	0	0	0	0	0	1	0	11465	463	16	3	2094	3	PARP4	13	25021323	Splice_Site	SNP	A	TCGA-B8-5549-01A-01D-1534-10	1105840	25021323	90148555	51	17041											
GPR12	2835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	27333242	27333242	+	Silent	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr13:27333242C>T	ENST00000381436.2	-	1	1185	c.723G>A	c.(721-723)tcG>tcA	p.S241S	GPR12_ENST00000405846.3_Silent_p.S241S			P47775	GPR12_HUMAN	G protein-coupled receptor 12	241					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.S241S(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TCACATAGTGCGACGTGGCCA	0.547																																																1	Substitution - coding silent(1)	kidney(1)											61	59	60					13																	27333242		2203	4300	6503	SO:0001819	synonymous_variant	2835			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.723G>A	13.37:g.27333242C>T			Q5T8P3	Silent	SNP	ENST00000381436.2	37	CCDS9319.1																																																																																				0.547	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			T	27333242	C	T	27333242	2	4	286	1	0	0	0	0	0	0	0	1	6637	755	27	1		1	GPR12	13	27333242	Silent	SNP	C	TCGA-B8-5549-01A-01D-1534-10	2311919	27333242	87836636	52	17042											
DHRS4L1	728635	broad.mit.edu;hgsc.bcm.edu	37	14	24518003	24518003	+	RNA	SNP	A	A	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr14:24518003A>G	ENST00000558293.1	+	0	651					NR_102693.1																						ACTTATCAAGACTAGCTTCAG	0.532																																																0													141	136	138					14																	24518003		2203	4300	6503			728635																															14.37:g.24518003A>G				Missense_Mutation	SNP	ENST00000558293.1	37		.	.	.	.	.	.	.	.	.	.	A	9.546	1.114607	0.20795	.	.	ENSG00000225766	ENST00000397065	.	.	.	4.67	4.67	0.58626	NAD(P)-binding domain (1);	.	.	.	.	T	0.80507	0.4636	M	0.88105	2.93	0.48341	D	0.999631	D	0.63880	0.993	D	0.71414	0.973	D	0.87324	0.2320	7	0.87932	D	0	.	12.0988	0.53772	1.0:0.0:0.0:0.0	.	220	P0CG22	DR4L1_HUMAN	A	220	.	ENSP00000380255:T220A	T	+	1	0	AL136295.1	23587843	1.000000	0.71417	0.987000	0.45799	0.015000	0.08874	7.349000	0.79376	1.958000	0.56883	0.329000	0.21502	ACT		0.532	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			G	24518003	A	G	24518003	1	3	286	0	1	0	0	0	0	0	0	0	4495	275	10	3		3	DHRS4L1	14	24518003	RNA	SNP	A	TCGA-B8-5549-01A-01D-1534-10		24518003	82831537	53	17043											
RALGAPA1	253959	hgsc.bcm.edu	37	14	36140604	36140611	+	Frame_Shift_Del	DEL	AGCTGAAG	AGCTGAAG	-	rs201831397	byFrequency	TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	AGCTGAAG	AGCTGAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr14:36140604_36140611delAGCTGAAG	ENST00000389698.3	-	25	4058_4065	c.3668_3675delCTTCAGCT	c.(3667-3675)tcttcagctfs	p.SSA1223fs	RALGAPA1_ENST00000258840.6_Frame_Shift_Del_p.SSA1270fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.SSA1223fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.SSA1236fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1223					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.S1223F(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTGAGAAAAGCTGAAGAAGCCACTCT	0.361																																																2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3668_3675delCTTCAGCT	14.37:g.36140604_36140611delAGCTGAAG	ENSP00000374348:p.Ser1223fs		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Del	DEL	ENST00000389698.3	37	CCDS32065.1																																																																																				0.361	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		-	36140611	AGCTGAAG	-	36140604	7	5	286	1	0	1	0	1	0	0	0	0	13019	59	3	0	2652	0	RALGAPA1	14	36140604	Frame_Shift_Del	DEL	AGCTGAAG	TCGA-B8-5549-01A-01D-1534-10	11622601	36140604	71208936	54	17044											
EML5	161436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	89093186	89093186	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr14:89093186C>T	ENST00000380664.5	-	33	4711	c.4712G>A	c.(4711-4713)gGt>gAt	p.G1571D	EML5_ENST00000352093.5_Missense_Mutation_p.G1533D|EML5_ENST00000553320.1_5'UTR|EML5_ENST00000554922.1_Missense_Mutation_p.G1579D			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1571						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.G1579D(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACATACTGCACCAAATGCAAT	0.443																																																1	Substitution - Missense(1)	kidney(1)											85	83	84					14																	89093186		2012	4192	6204	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4712G>A	14.37:g.89093186C>T	ENSP00000370039:p.Gly1571Asp		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902258	0.92035	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664;ENST00000555823	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.14	5.14	0.70334	WD40 repeat-like-containing domain (2);	0.057319	0.64402	D	0.000001	T	0.57242	0.2040	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	T	0.57159	-0.7859	10	0.20046	T	0.44	-23.2453	18.8054	0.92035	0.0:1.0:0.0:0.0	.	1579;1571	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	D	1579;1533;1571;20	ENSP00000451998:G1579D;ENSP00000298315:G1533D;ENSP00000370039:G1571D;ENSP00000452030:G20D	ENSP00000298315:G1533D	G	-	2	0	EML5	88162939	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.213000	0.77950	2.697000	0.92050	0.655000	0.94253	GGT		0.443	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			T	89093186	C	T	89093186	3	4	286	1	0	0	0	0	1	0	0	0	5102	507	18	2	1237	2	EML5	14	89093186	Missense_Mutation	SNP	C	TCGA-B8-5549-01A-01D-1534-10	52952582	89093186	18256354	55	17045											
SLC12A6	9990	broad.mit.edu;hgsc.bcm.edu	37	15	34546785	34546785	+	Silent	SNP	A	A	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr15:34546785A>G	ENST00000354181.3	-	9	1374	c.882T>C	c.(880-882)taT>taC	p.Y294Y	SLC12A6_ENST00000560164.1_Silent_p.Y106Y|SLC12A6_ENST00000451844.2_Silent_p.Y106Y|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558589.1_Silent_p.Y285Y|SLC12A6_ENST00000397702.2_Silent_p.Y235Y|SLC12A6_ENST00000558667.1_Silent_p.Y294Y|SLC12A6_ENST00000560611.1_Silent_p.Y294Y|SLC12A6_ENST00000290209.5_Silent_p.Y243Y|SLC12A6_ENST00000458406.2_Silent_p.Y235Y|SLC12A6_ENST00000397707.2_Silent_p.Y279Y			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	294					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.Y243Y(1)|p.Y285Y(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GGGGGACGATATAGACCTGTT	0.393																																																2	Substitution - coding silent(2)	kidney(2)											71	70	70					15																	34546785		2201	4298	6499	SO:0001819	synonymous_variant	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.882T>C	15.37:g.34546785A>G			A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	CCDS58352.1																																																																																				0.393	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		G	34546785	A	G	34546785	2	3	286	1	0	0	0	0	0	0	0	1	14393	456	16	3		3	SLC12A6	15	34546785	Silent	SNP	A	TCGA-B8-5549-01A-01D-1534-10		34546785	67984607	56	17046											
ANXA2	302	broad.mit.edu;hgsc.bcm.edu	37	15	60641324	60641324	+	Silent	SNP	T	T	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr15:60641324T>G	ENST00000396024.3	-	13	1069	c.910A>C	c.(910-912)Agg>Cgg	p.R304R	ANXA2_ENST00000451270.2_Silent_p.R304R|ANXA2_ENST00000421017.2_Silent_p.R304R|ANXA2_ENST00000332680.4_Silent_p.R322R	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	304					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.R322R(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	AATTCAGACCTAATTTTCAAC	0.493																																																1	Substitution - coding silent(1)	kidney(1)											81	71	74					15																	60641324		2203	4298	6501	SO:0001819	synonymous_variant	302			D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"Annexins"	537	protein-coding gene	gene with protein product	"annexin II"	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.910A>C	15.37:g.60641324T>G			Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Silent	SNP	ENST00000396024.3	37	CCDS10175.1																																																																																				0.493	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		G	60641324	T	G	60641324	2	3	286	1	0	0	0	0	0	0	0	1	718	1521	53	5		5	ANXA2	15	60641324	Silent	SNP	T	TCGA-B8-5549-01A-01D-1534-10	26094539	60641324	41890068	57	17047											
MGRN1	23295	broad.mit.edu	37	16	4727555	4727555	+	Silent	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr16:4727555G>A	ENST00000399577.5	+	11	1140	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	MGRN1_ENST00000415496.1_Silent_p.L350L|MGRN1_ENST00000586183.1_Silent_p.L349L|MGRN1_ENST00000262370.7_Silent_p.L349L|MGRN1_ENST00000588994.1_Silent_p.L349L	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	349					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L349L(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CCCAGAGCCTGGAGCATGATG	0.697																																																2	Substitution - coding silent(2)	kidney(2)											36	42	40					16																	4727555		2006	4168	6174	SO:0001819	synonymous_variant	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1047G>A	16.37:g.4727555G>A			A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	37	CCDS45402.1																																																																																				0.697	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			A	4727555	G	A	4727555	2	1	286	1	0	0	0	0	0	0	0	1	9561	1335	47	2		2	MGRN1	16	4727555	Silent	SNP	G	TCGA-B8-5549-01A-01D-1534-10		4727555	85627198	58	17048											
ABCC1	4363	broad.mit.edu;ucsc.edu	37	16	16225792	16225795	+	Splice_Site	DEL	GGTG	GGTG	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	GGTG	GGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr16:16225792_16225795delGGTG	ENST00000399410.3	+	27	4141	c.3966delGGTG	c.(3964-3966)aag>aa	p.K1322fs	ABCC1_ENST00000346370.5_Splice_Site_p.K1266fs|ABCC1_ENST00000351154.5_Splice_Site_p.K1263fs|ABCC1_ENST00000349029.5_Splice_Site_p.K1207fs|ABCC1_ENST00000345148.5_Splice_Site_p.K1322fs|ABCC1_ENST00000399408.2_Splice_Site_p.K1332fs	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1322	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGGGAGAAAAGGTGGGTACACATC	0.598																																																0																																										SO:0001630	splice_region_variant	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3966+1GGTG>-	16.37:g.16225792_16225795delGGTG			A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Splice_Site	DEL	ENST00000399410.3	37	CCDS42122.1																																																																																				0.598	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	Frame_Shift_Del	-	16225795	GGTG	-	16225792	8	5	286	1	0	1	0	1	0	0	1	0	49	1014	35	0	4072	0	ABCC1	16	16225792	Splice_Site	DEL	GGTG	TCGA-B8-5549-01A-01D-1534-10	11498237	16225792	74128961	59	17049											
LCMT1	51451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	25162930	25162930	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr16:25162930C>G	ENST00000399069.3	+	5	615	c.460C>G	c.(460-462)Cag>Gag	p.Q154E	RP11-266L9.2_ENST00000562280.1_RNA|LCMT1_ENST00000380966.4_Intron|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	154					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.Q154E(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GGACACACTTCAGATGGGCAA	0.458																																					Colon(200;565 2072 24396 47922 50898)											1	Substitution - Missense(1)	kidney(1)											87	83	84					16																	25162930		1931	4125	6056	SO:0001583	missense	51451			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.460C>G	16.37:g.25162930C>G	ENSP00000382021:p.Gln154Glu		A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.205259	0.01568	.	.	ENSG00000205629	ENST00000399069;ENST00000380962	T	0.21191	2.02	4.71	2.68	0.31781	.	0.419151	0.26103	N	0.026321	T	0.09905	0.0243	N	0.16708	0.43	0.22762	N	0.998769	B	0.02656	0.0	B	0.08055	0.003	T	0.37150	-0.9718	10	0.02654	T	1	-8.3545	9.9694	0.41745	0.3683:0.6317:0.0:0.0	.	154	Q9UIC8	LCMT1_HUMAN	E	154;171	ENSP00000382021:Q154E	ENSP00000370349:Q171E	Q	+	1	0	LCMT1	25070431	0.684000	0.27642	0.195000	0.23364	0.911000	0.54048	1.186000	0.32078	0.657000	0.30906	0.561000	0.74099	CAG		0.458	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		G	25162930	C	G	25162930	3	3	286	1	0	0	0	0	1	0	0	0	8680	827	29	4	478	4	LCMT1	16	25162930	Missense_Mutation	SNP	C	TCGA-B8-5549-01A-01D-1534-10	8937138	25162930	65191823	60	17050											
SLC5A2	6524	broad.mit.edu;hgsc.bcm.edu	37	16	31501699	31501699	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr16:31501699G>C	ENST00000330498.3	+	14	1881	c.1862G>C	c.(1861-1863)gGg>gCg	p.G621A	C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR|SLC5A2_ENST00000564197.1_Intron|AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	621					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.G621A(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	AGCAGAGGTGGGGTGGGCAGT	0.652																																																1	Substitution - Missense(1)	kidney(1)											25	28	27					16																	31501699		2197	4300	6497	SO:0001583	missense	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1862G>C	16.37:g.31501699G>C	ENSP00000327943:p.Gly621Ala		A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	4.173	0.030630	0.08101	.	.	ENSG00000140675	ENST00000330498	D	0.91521	-2.86	5.22	2.18	0.27775	.	0.582743	0.18257	N	0.146742	T	0.79155	0.4398	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.60642	-0.7223	10	0.08179	T	0.78	.	6.8906	0.24226	0.2737:0.0:0.7263:0.0	.	621	P31639	SC5A2_HUMAN	A	621	ENSP00000327943:G621A	ENSP00000327943:G621A	G	+	2	0	SLC5A2	31409200	0.041000	0.20044	0.029000	0.17559	0.091000	0.18340	0.440000	0.21592	1.201000	0.43203	0.561000	0.74099	GGG		0.652	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			C	31501699	G	C	31501699	3	2	286	1	0	0	0	0	1	0	0	0	14671	1232	43	4	1916	4	SLC5A2	16	31501699	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10	6338769	31501699	58853054	61	17051											
KRTAP1-3	81850	broad.mit.edu	37	17	39190639	39190639	+	Silent	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr17:39190639G>A	ENST00000344363.5	-	1	468	c.435C>T	c.(433-435)cgC>cgT	p.R145R		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	155						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.R145R(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGTAGGATGGGCGGCAGCAGG	0.612																																																1	Substitution - coding silent(1)	kidney(1)											32	39	37					17																	39190639		2066	4202	6268	SO:0001819	synonymous_variant	81850			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.435C>T	17.37:g.39190639G>A			Q07628|Q8IUG0|Q9BYS2	Silent	SNP	ENST00000344363.5	37	CCDS42323.1																																																																																				0.612	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			A	39190639	G	A	39190639	2	1	286	1	0	0	0	0	0	0	0	1	8505	1190	42	2		2	KRTAP1-3	17	39190639	Silent	SNP	G	TCGA-B8-5549-01A-01D-1534-10		39190639	42004571	62	17052											
AARSD1	100885848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41122331	41122331	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr17:41122331G>T	ENST00000453594.1	-	5	782	c.437C>A	c.(436-438)cCt>cAt	p.P146H	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.P179H|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.P179H|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.P88H|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.P118H|PTGES3L_ENST00000409446.3_Missense_Mutation_p.P141H	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	146	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.							p.P118H(1)									GGCAGGTGGAGGTCTCTTGGT	0.448																																																1	Substitution - Missense(1)	kidney(1)											251	255	253					17																	41122331		2203	4300	6503	SO:0001583	missense	80755				CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.437C>A	17.37:g.41122331G>T	ENSP00000394415:p.Pro146His			Missense_Mutation	SNP	ENST00000453594.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	3.000056|3.000056	0.54147|0.54147	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000424284|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000409103;ENST00000454303;ENST00000453594;ENST00000409446	.|T;T;T;T	.|0.71579	.|-0.58;-0.58;-0.58;-0.58	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.398008	.|0.26279	.|N	.|0.025300	T|T	0.70491|0.70491	0.3230|0.3230	L|L	0.29908|0.29908	0.895|0.895	.|.	.|.	.|.	.|P;D;P;P;P	.|0.64830	.|0.947;0.994;0.773;0.773;0.602	.|P;P;P;P;P	.|0.58873	.|0.628;0.847;0.65;0.65;0.65	T|T	0.76152|0.76152	-0.3064|-0.3064	4|9	.|0.44086	.|T	.|0.13	-6.4698|-6.4698	10.868|10.868	0.46866|0.46866	0.0:0.1483:0.716:0.1356|0.0:0.1483:0.716:0.1356	.|.	.|146;141;179;88;136	.|E9PB15;B9A003;B4DI73;C9J5N1;B3KSP9	.|.;.;.;.;.	I|H	108|118;179;179;88;118;146;141	.|ENSP00000353355:P118H;ENSP00000386621:P179H;ENSP00000409924:P179H;ENSP00000386254:P88H	.|ENSP00000353355:P118H	L|P	-|-	1|2	0|0	AARSD1|AARSD1	38375857|38375857	0.983000|0.983000	0.35010|0.35010	0.713000|0.713000	0.30519|0.30519	0.985000|0.985000	0.73830|0.73830	3.766000|3.766000	0.55280|0.55280	2.674000|2.674000	0.91012|0.91012	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.448	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001142653		T	41122331	G	T	41122331	3	4	286	1	0	0	0	0	1	0	0	0	21	1000	35	4	1315	4	AARSD1	17	41122331	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10	1931692	41122331	40072879	63	17053											
KCNH6	81033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61607502	61607502	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr17:61607502G>T	ENST00000583023.1	+	3	369	c.358G>T	c.(358-360)Ggg>Tgg	p.G120W	KCNH6_ENST00000456941.2_Missense_Mutation_p.G120W|KCNH6_ENST00000580652.1_Missense_Mutation_p.G120W|KCNH6_ENST00000581784.1_Missense_Mutation_p.G120W|KCNH6_ENST00000314672.5_Missense_Mutation_p.G120W	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	120	PAC.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G120W(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAACGAGGACGGGGCTGTCAT	0.627																																																1	Substitution - Missense(1)	kidney(1)											102	86	92					17																	61607502		2203	4300	6503	SO:0001583	missense	81033			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.358G>T	17.37:g.61607502G>T	ENSP00000463533:p.Gly120Trp		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103590	0.37145	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99841	-7.09;-7.09	4.76	4.76	0.60689	PAS fold (1);	0.000000	0.49916	D	0.000126	D	0.99891	0.9948	H	0.96861	3.895	0.54753	D	0.999984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.992	D	0.96215	0.9156	10	0.87932	D	0	.	17.5648	0.87917	0.0:0.0:1.0:0.0	.	120;120;120	Q9H252-2;Q9H252;Q9H252-3	.;KCNH6_HUMAN;.	W	120	ENSP00000318212:G120W;ENSP00000396900:G120W	ENSP00000318212:G120W	G	+	1	0	KCNH6	58961234	1.000000	0.71417	0.924000	0.36721	0.820000	0.46376	9.198000	0.94994	2.483000	0.83821	0.561000	0.74099	GGG		0.627	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		T	61607502	G	T	61607502	3	4	286	1	0	0	0	0	1	0	0	0	8038	1116	39	4	368	4	KCNH6	17	61607502	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10	20485171	61607502	19587708	64	17054											
SF4	57794	broad.mit.edu	37	19	19388598	19388598	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr19:19388598T>C	ENST00000247001.5	-	12	2073	c.1726A>G	c.(1726-1728)Aag>Gag	p.K576E		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	576	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.K576E(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TCGCCCTCCTTCCAGCCCATC	0.582																																																1	Substitution - Missense(1)	kidney(1)											118	95	103					19																	19388598		2203	4300	6503	SO:0001583	missense	0			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1726A>G	19.37:g.19388598T>C	ENSP00000247001:p.Lys576Glu		O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.290490	0.80914	.	.	ENSG00000105705	ENST00000247001	T	0.38887	1.11	4.96	4.96	0.65561	D111/G-patch (3);	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.51853	1.615	0.80722	D	1	P	0.52463	0.953	P	0.59012	0.85	T	0.55761	-0.8090	10	0.56958	D	0.05	.	13.7662	0.62997	0.0:0.0:0.0:1.0	.	576	Q8IWZ8	SUGP1_HUMAN	E	576	ENSP00000247001:K576E	ENSP00000247001:K576E	K	-	1	0	SUGP1	19249598	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.009000	0.70745	1.990000	0.58119	0.459000	0.35465	AAG		0.582	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		C	19388598	T	C	19388598	3	2	286	1	0	0	0	0	1	0	0	0	14161	1792	62	3	223	3	SF4	19	19388598	Missense_Mutation	SNP	T	TCGA-B8-5549-01A-01D-1534-10		19388598	39740385	65	17055											
NUMBL	9253	broad.mit.edu	37	19	41173395	41173395	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr19:41173395delT	ENST00000252891.4	-	10	1975	c.1808delA	c.(1807-1809)aagfs	p.K603fs	NUMBL_ENST00000598779.1_Frame_Shift_Del_p.K562fs|NUMBL_ENST00000540131.1_Frame_Shift_Del_p.K562fs	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	603					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CTCGAATGTCTTTTGCAGGTC	0.597																																																0													15	15	15					19																	41173395		2202	4300	6502	SO:0001589	frameshift_variant	9253			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1808delA	19.37:g.41173395delT	ENSP00000252891:p.Lys603fs		Q7Z4J9	Frame_Shift_Del	DEL	ENST00000252891.4	37	CCDS12561.1																																																																																				0.597	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		-	41173395	T	-	41173395	7	5	286	1	0	1	0	1	0	0	0	0	10754	1609	56	0	25	0	NUMBL	19	41173395	Frame_Shift_Del	DEL	T	TCGA-B8-5549-01A-01D-1534-10	21784797	41173395	17955588	66	17056											
PRR12	57479	broad.mit.edu	37	19	50128756	50128756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr19:50128756delG	ENST00000418929.2	+	14	6015	c.6003delG	c.(6001-6003)cagfs	p.Q2001fs	CTB-33G10.11_ENST00000600665.1_RNA	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1180							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCTGGGCCAGGAGGAGGTGG	0.677																																																0													16	21	19					19																	50128756		2008	4165	6173	SO:0001589	frameshift_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.6003delG	19.37:g.50128756delG	ENSP00000394510:p.Gln2001fs		E9PB06|Q8N4J6	Frame_Shift_Del	DEL	ENST00000418929.2	37	CCDS46143.1																																																																																				0.677	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		-	50128756	G	-	50128756	7	5	286	1	0	1	0	1	0	0	0	0	12589	991	35	0	6057	0	PRR12	19	50128756	Frame_Shift_Del	DEL	G	TCGA-B8-5549-01A-01D-1534-10	8955361	50128756	9000227	67	17057											
ZNF761	388561	broad.mit.edu;hgsc.bcm.edu	37	19	53959771	53959771	+	RNA	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr19:53959771C>T	ENST00000454407.1	+	0	2463							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T616T(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GTGGCAAGACCTTTAGTCGGA	0.378																																																1	Substitution - coding silent(1)	kidney(1)											88	93	91					19																	53959771		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959771C>T			Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37																																																																																					0.378	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		T	53959771	C	T	53959771	1	4	286	0	1	0	0	0	0	0	0	0	18141	668	24	2		2	ZNF761	19	53959771	RNA	SNP	C	TCGA-B8-5549-01A-01D-1534-10	3831015	53959771	5169212	68	17058											
RRBP1	6238	broad.mit.edu;ucsc.edu	37	20	17605265	17605265	+	Missense_Mutation	SNP	C	C	G	rs200276432		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr20:17605265C>G	ENST00000377813.1	-	13	3406	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	RRBP1_ENST00000246043.4_Missense_Mutation_p.E1035Q|RRBP1_ENST00000455029.2_Missense_Mutation_p.E376Q|RRBP1_ENST00000360807.4_Missense_Mutation_p.E602Q|RRBP1_ENST00000470422.1_5'Flank|RRBP1_ENST00000377807.2_Missense_Mutation_p.E602Q			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1035					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.E1035Q(1)|p.E602Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CAGGCCTGCTCGGCCGTGGCC	0.632																																																2	Substitution - Missense(2)	kidney(2)											75	55	62					20																	17605265		2202	4299	6501	SO:0001583	missense	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3103G>C	20.37:g.17605265C>G	ENSP00000367044:p.Glu1035Gln		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	13.63	2.293142	0.40594	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.84	5.84	0.93424	.	0.000000	0.38005	N	0.001843	T	0.55210	0.1906	M	0.79258	2.445	0.80722	D	1	D	0.53745	0.962	P	0.54174	0.744	T	0.50329	-0.8841	10	0.30854	T	0.27	-43.4558	18.7059	0.91639	0.0:1.0:0.0:0.0	.	602	Q9P2E9-3	.	Q	602;1035;602;1035;376	ENSP00000354045:E602Q;ENSP00000367044:E1035Q;ENSP00000367038:E602Q;ENSP00000246043:E1035Q;ENSP00000401206:E376Q	ENSP00000246043:E1035Q	E	-	1	0	RRBP1	17553265	0.998000	0.40836	0.956000	0.39512	0.029000	0.11900	4.092000	0.57707	2.768000	0.95171	0.561000	0.74099	GAG		0.632	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		G	17605265	C	G	17605265	3	3	286	1	0	0	0	0	1	0	0	0	13684	893	31	4	1181	4	RRBP1	20	17605265	Missense_Mutation	SNP	C	TCGA-B8-5549-01A-01D-1534-10		17605265	45420255	69	17059											
ENTHD1	150350	broad.mit.edu;ucsc.edu	37	22	40231918	40231918	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr22:40231918A>T	ENST00000325157.6	-	4	888	c.638T>A	c.(637-639)gTt>gAt	p.V213D		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	213								p.V213D(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGGCAAATGAACATCTTGGCA	0.373																																																1	Substitution - Missense(1)	kidney(1)											292	268	276					22																	40231918		2203	4300	6503	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.638T>A	22.37:g.40231918A>T	ENSP00000317431:p.Val213Asp		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	A	5.543	0.285126	0.10513	.	.	ENSG00000176177	ENST00000325157	T	0.51325	0.71	5.65	-0.269	0.12930	.	2.100850	0.01697	N	0.026946	T	0.33440	0.0863	N	0.19112	0.55	0.09310	N	1	B	0.18166	0.026	B	0.20384	0.029	T	0.13899	-1.0492	10	0.37606	T	0.19	1.2567	5.3282	0.15918	0.5353:0.1449:0.3198:0.0	.	213	Q8IYW4	ENTD1_HUMAN	D	213	ENSP00000317431:V213D	ENSP00000317431:V213D	V	-	2	0	ENTHD1	38561864	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.238000	0.02919	-0.428000	0.07339	-0.491000	0.04670	GTT		0.373	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		T	40231918	A	T	40231918	3	4	286	1	0	0	0	0	1	0	0	0	5139	43	2	5	1201	5	ENTHD1	22	40231918	Missense_Mutation	SNP	A	TCGA-B8-5549-01A-01D-1534-10		40231918	11072648	70	17060											
DACH2	117154	broad.mit.edu	37	X	86069820	86069820	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chrX:86069820G>T	ENST00000373125.4	+	10	1667	c.1667G>T	c.(1666-1668)gGc>gTc	p.G556V	DACH2_ENST00000508860.1_Missense_Mutation_p.G389V|DACH2_ENST00000510272.1_Missense_Mutation_p.G337V|DACH2_ENST00000373131.1_Missense_Mutation_p.G543V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	556					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G556V(9)|p.G543V(9)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGTGACAGTGGCCTGAGGATG	0.398																																																18	Substitution - Missense(18)	endometrium(8)|kidney(8)|lung(2)											57	48	51					X																	86069820		2203	4300	6503	SO:0001583	missense	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1667G>T	X.37:g.86069820G>T	ENSP00000362217:p.Gly556Val		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667616	0.29604	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82433	-1.57;-1.61	4.76	4.76	0.60689	.	0.153373	0.30410	N	0.009683	D	0.84451	0.5475	L	0.34521	1.04	0.80722	D	1	B;B;D;P	0.61697	0.172;0.085;0.99;0.793	B;B;P;B	0.60068	0.038;0.054;0.868;0.254	T	0.82857	-0.0250	10	0.27082	T	0.32	.	17.002	0.86383	0.0:0.0:1.0:0.0	.	422;556;543;556	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	V	556;543;556;389;337;389;221	ENSP00000362223:G543V;ENSP00000362217:G556V	ENSP00000345134:G556V	G	+	2	0	DACH2	85956476	0.999000	0.42202	0.958000	0.39756	0.913000	0.54294	3.863000	0.56016	1.932000	0.55993	0.415000	0.27848	GGC		0.398	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		T	86069820	G	T	86069820	3	4	286	1	0	0	0	0	1	0	0	0	4223	1203	42	4	1705	4	DACH2	23	86069820	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10		86069820	69200740	71	17061											
TCEAL8	90843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	102508844	102508844	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chrX:102508844G>A	ENST00000372685.3	-	3	300	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	TCEAL8_ENST00000360000.4_Missense_Mutation_p.R22C	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R22C(1)		kidney(2)|lung(1)|ovary(1)	4						TCCAAAGGGCGATCTTCCTCG	0.443																																																1	Substitution - Missense(1)	kidney(1)											188	167	174					X																	102508844		2203	4300	6503	SO:0001583	missense	90843			AL833632	CCDS14504.1	Xq22.1	2014-03-21			ENSG00000180964	ENSG00000180964			28683	protein-coding gene	gene with protein product						16221301	Standard	NM_001006684		Approved	MGC45400, WEX3	uc004ejy.3	Q8IYN2	OTTHUMG00000022094	ENST00000372685.3:c.64C>T	X.37:g.102508844G>A	ENSP00000361770:p.Arg22Cys			Missense_Mutation	SNP	ENST00000372685.3	37	CCDS14504.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585595	0.46110	.	.	ENSG00000180964	ENST00000360000;ENST00000372685;ENST00000451678	T;T	0.10192	2.9;2.9	4.52	3.64	0.41730	.	0.538057	0.16403	N	0.215930	T	0.09774	0.0240	L	0.29908	0.895	0.20403	N	0.999904	D	0.53312	0.959	B	0.44044	0.439	T	0.13629	-1.0502	10	0.66056	D	0.02	-0.1709	9.3603	0.38192	0.0:0.2115:0.7885:0.0	.	22	Q8IYN2	TCAL8_HUMAN	C	22	ENSP00000353093:R22C;ENSP00000361770:R22C	ENSP00000353093:R22C	R	-	1	0	TCEAL8	102395500	0.984000	0.35163	0.401000	0.26359	0.794000	0.44872	2.156000	0.42310	1.220000	0.43490	0.600000	0.82982	CGC		0.443	TCEAL8-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057698.1	NM_153333		A	102508844	G	A	102508844	3	1	286	1	0	0	0	0	1	0	0	0	15682	1058	37	1	293	1	TCEAL8	23	102508844	Missense_Mutation	SNP	G	TCGA-B8-5549-01A-01D-1534-10	16439024	102508844	52761716	72	17062											
TMCO4	255104	hgsc.bcm.edu;ucsc.edu	37	1	20082231	20082231	+	Silent	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:20082231G>A	ENST00000294543.6	-	7	652	c.411C>T	c.(409-411)ctC>ctT	p.L137L	TMCO4_ENST00000375122.2_Silent_p.L137L|TMCO4_ENST00000375127.1_Silent_p.L137L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	137						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGTGGCAAACGAGGACTCTGG	0.488																																																0													99	102	101					1																	20082231		2203	4300	6503	SO:0001819	synonymous_variant	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.411C>T	1.37:g.20082231G>A			Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	CCDS198.1																																																																																				0.488	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		A	20082231	G	A	20082231	2	1	287	1	0	0	0	0	0	0	0	1	16003	1045	37	1		1	TMCO4	1	20082231	Silent	SNP	G	TCGA-B8-5550-01A-01D-1534-10		20082231	229168390	1	17063											
ZCCHC17	51538	hgsc.bcm.edu;ucsc.edu	37	1	31836934	31836934	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:31836934A>C	ENST00000373714.1	+	8	881	c.620A>C	c.(619-621)gAc>gCc	p.D207A	FABP3_ENST00000497275.1_5'Flank|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.D207A|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.D199A|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.D209A	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	207	Lys-rich.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GACAGCTCAGACTCTGAGAGT	0.388																																																0													87	91	90					1																	31836934		2203	4300	6503	SO:0001583	missense	51538			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.620A>C	1.37:g.31836934A>C	ENSP00000362819:p.Asp207Ala		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	CCDS341.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420626	0.62622	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	.	.	.	5.52	4.4	0.53042	.	0.341184	0.38897	N	0.001538	T	0.54647	0.1871	L	0.50333	1.59	0.27000	N	0.964922	D;B;P	0.69078	0.997;0.084;0.949	D;B;B	0.75484	0.986;0.043;0.29	T	0.48822	-0.9001	9	0.72032	D	0.01	.	8.8881	0.35416	0.9159:0.0:0.0841:0.0	.	209;199;207	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	A	207;207;199;209	.	ENSP00000343557:D207A	D	+	2	0	ZCCHC17	31609521	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.123000	0.41996	1.119000	0.41883	0.528000	0.53228	GAC		0.388	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		C	31836934	A	C	31836934	3	2	287	1	0	0	0	0	1	0	0	0	17590	275	10	5	646	5	ZCCHC17	1	31836934	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10	11754703	31836934	217413687	2	17064											
WDR78	79819	hgsc.bcm.edu	37	1	67390428	67390428	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:67390428T>A	ENST00000371026.3	-	1	142	c.87A>T	c.(85-87)aaA>aaT	p.K29N	MIER1_ENST00000371012.2_5'Flank|MIER1_ENST00000371016.1_5'Flank|WDR78_ENST00000371023.3_Missense_Mutation_p.K29N|MIER1_ENST00000401041.1_5'Flank|MIER1_ENST00000371018.3_5'Flank|MIER1_ENST00000357692.2_5'Flank|MIER1_ENST00000371014.1_5'Flank|MIER1_ENST00000355977.6_5'Flank|WDR78_ENST00000371022.3_Missense_Mutation_p.K29N|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	29					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACCACCCCTTTTTTTGGCCGC	0.632																																																0													97	98	98					1																	67390428		2203	4300	6503	SO:0001583	missense	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.87A>T	1.37:g.67390428T>A	ENSP00000360065:p.Lys29Asn		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.992127	0.35131	.	.	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	T;T;T	0.59364	0.27;1.96;1.17	3.71	-0.0969	0.13635	.	2.666740	0.01769	N	0.031076	T	0.15003	0.0362	N	0.08118	0	0.20307	N	0.999913	B;B;B	0.32160	0.358;0.244;0.148	B;B;B	0.29785	0.107;0.05;0.025	T	0.08722	-1.0708	10	0.37606	T	0.19	0.0012	4.7723	0.13162	0.0:0.1151:0.4403:0.4446	.	29;29;29	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	N	29	ENSP00000360065:K29N;ENSP00000360062:K29N;ENSP00000360061:K29N	ENSP00000360061:K29N	K	-	3	2	WDR78	67163016	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.055000	0.14229	-0.015000	0.14150	-0.379000	0.06801	AAA		0.632	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		A	67390428	T	A	67390428	3	1	287	1	0	0	0	0	1	0	0	0	17333	1838	64	5	2584	5	WDR78	1	67390428	Missense_Mutation	SNP	T	TCGA-B8-5550-01A-01D-1534-10	35553494	67390428	181860193	3	17065											
BRDT	676	hgsc.bcm.edu;ucsc.edu	37	1	92445158	92445158	+	Silent	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:92445158G>A	ENST00000362005.3	+	9	1549	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	BRDT_ENST00000402388.1_Silent_p.P377P|BRDT_ENST00000370389.2_Silent_p.P304P|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000394530.3_Silent_p.P331P|BRDT_ENST00000399546.2_Silent_p.P377P	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	377					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAAAGATCCCGATTGAACCTG	0.348																																																0													95	95	95					1																	92445158		2203	4300	6503	SO:0001819	synonymous_variant	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1131G>A	1.37:g.92445158G>A			A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	CCDS735.1																																																																																				0.348	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		A	92445158	G	A	92445158	2	1	287	1	0	0	0	0	0	0	0	1	1510	1045	37	1		1	BRDT	1	92445158	Silent	SNP	G	TCGA-B8-5550-01A-01D-1534-10	25054730	92445158	156805463	4	17066											
EPS8L3	79574	hgsc.bcm.edu;ucsc.edu	37	1	110300154	110300154	+	Silent	SNP	C	C	T	rs573056467		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:110300154C>T	ENST00000361965.4	-	11	1024	c.918G>A	c.(916-918)aaG>aaA	p.K306K	EPS8L3_ENST00000361852.4_Silent_p.K306K|EPS8L3_ENST00000369805.3_Silent_p.K307K|EPS8L3_ENST00000494151.1_5'Flank|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	306						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CACTTGTCTCCTTCAGCCAGG	0.557																																																0													82	71	75					1																	110300154		2203	4300	6503	SO:0001819	synonymous_variant	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.918G>A	1.37:g.110300154C>T			A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	CCDS814.1																																																																																				0.557	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		T	110300154	C	T	110300154	2	4	287	1	0	0	0	0	0	0	0	1	5199	680	24	2		2	EPS8L3	1	110300154	Silent	SNP	C	TCGA-B8-5550-01A-01D-1534-10	17854996	110300154	138950467	5	17067											
FAM46C	54855	hgsc.bcm.edu;ucsc.edu	37	1	118166327	118166327	+	Silent	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:118166327G>T	ENST00000369448.3	+	2	1084	c.837G>T	c.(835-837)ccG>ccT	p.P279P		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	279										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TCGACTTCCCGGACATCCTTG	0.498			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)																													Rec	yes		1	1p12	54855	"family with sequence similarity 46, member C"		L	0													77	79	78					1																	118166327		2203	4300	6503	SO:0001819	synonymous_variant	54855			BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.837G>T	1.37:g.118166327G>T			A3KMG2|Q8NE25|Q9NXK0	Silent	SNP	ENST00000369448.3	37	CCDS896.1																																																																																				0.498	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		T	118166327	G	T	118166327	2	4	287	1	0	0	0	0	0	0	0	1	5569	1103	39	4		4	FAM46C	1	118166327	Silent	SNP	G	TCGA-B8-5550-01A-01D-1534-10	7866173	118166327	131084294	6	17068											
SPAG17	200162	hgsc.bcm.edu;ucsc.edu	37	1	118558649	118558649	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:118558649T>A	ENST00000336338.5	-	29	4291	c.4226A>T	c.(4225-4227)gAa>gTa	p.E1409V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1409						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGCTATTCTTTCTAATCCTTT	0.438																																																0													160	173	169					1																	118558649		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4226A>T	1.37:g.118558649T>A	ENSP00000337804:p.Glu1409Val		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.488566	0.26686	.	.	ENSG00000155761	ENST00000336338	T	0.21361	2.01	4.98	4.98	0.66077	.	0.481320	0.22737	N	0.056243	T	0.20700	0.0498	L	0.54323	1.7	0.27067	N	0.963418	P	0.50272	0.933	P	0.55303	0.773	T	0.03175	-1.1064	10	0.51188	T	0.08	.	12.1879	0.54250	0.0:0.0:0.0:1.0	.	1409	Q6Q759	SPG17_HUMAN	V	1409	ENSP00000337804:E1409V	ENSP00000337804:E1409V	E	-	2	0	SPAG17	118360172	0.936000	0.31750	0.074000	0.20217	0.084000	0.17831	2.368000	0.44222	1.870000	0.54199	0.377000	0.23210	GAA		0.438	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		A	118558649	T	A	118558649	3	1	287	1	0	0	0	0	1	0	0	0	14985	1783	62	5	2525	5	SPAG17	1	118558649	Missense_Mutation	SNP	T	TCGA-B8-5550-01A-01D-1534-10	392322	118558649	130691972	7	17069											
NOTCH2	4853	hgsc.bcm.edu;ucsc.edu	37	1	120491750	120491750	+	Splice_Site	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:120491750C>A	ENST00000256646.2	-	16	2699		c.e16-1			NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2						apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAATTCTTGCCTAGAAAGTAA	0.383			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													99	100	99					1																	120491750		2203	4300	6503	SO:0001630	splice_region_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2480-1G>T	1.37:g.120491750C>A			Q5T3X7|Q99734|Q9H240	Splice_Site	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135276	0.37728	.	.	ENSG00000134250	ENST00000256646	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8919	0.63744	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH2	120293273	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	6.933000	0.75874	2.754000	0.94517	0.585000	0.79938	.		0.383	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	Intron	A	120491750	C	A	120491750	5	1	287	1	0	0	0	0	0	0	1	0	10550	695	24	4	5012	4	NOTCH2	1	120491750	Splice_Site	SNP	C	TCGA-B8-5550-01A-01D-1534-10	1933101	120491750	128758871	8	17070											
GABPB2	126626	hgsc.bcm.edu;ucsc.edu	37	1	151079598	151079598	+	Silent	SNP	C	C	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:151079598C>G	ENST00000368918.3	+	7	1153	c.822C>G	c.(820-822)acC>acG	p.T274T	GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Silent_p.T236T|GABPB2_ENST00000368917.1_Silent_p.T236T	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	274					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GGGTCATCACCATAGTGACTG	0.453																																																0													86	83	84					1																	151079598		2203	4300	6503	SO:0001819	synonymous_variant	126626				CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"Ankyrin repeat domain containing"	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.822C>G	1.37:g.151079598C>G			B1AVJ8|D3DV14|Q8NAR5	Silent	SNP	ENST00000368918.3	37	CCDS983.1																																																																																				0.453	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618		G	151079598	C	G	151079598	2	3	287	1	0	0	0	0	0	0	0	1	6161	581	21	4		4	GABPB2	1	151079598	Silent	SNP	C	TCGA-B8-5550-01A-01D-1534-10	30587848	151079598	98171023	9	17071											
CRB1	23418	hgsc.bcm.edu;ucsc.edu	37	1	197396890	197396890	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:197396890A>T	ENST00000367400.3	+	7	2570	c.2435A>T	c.(2434-2436)cAa>cTa	p.Q812L	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.Q293L|CRB1_ENST00000367399.2_Missense_Mutation_p.Q700L|CRB1_ENST00000535699.1_Missense_Mutation_p.Q743L|CRB1_ENST00000367397.1_Missense_Mutation_p.Q193L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	812	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGTCTTCACAAAACCTAGGA	0.353																																																0													50	50	50					1																	197396890		2203	4300	6503	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2435A>T	1.37:g.197396890A>T	ENSP00000356370:p.Gln812Leu		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217510	0.58560	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.84817	0.5556	M	0.66506	2.035	0.48571	D	0.999674	D;D;D;D	0.69078	0.997;0.992;0.96;0.997	D;D;P;D	0.80764	0.993;0.979;0.663;0.994	T	0.81831	-0.0752	9	0.12103	T	0.63	.	14.9845	0.71336	1.0:0.0:0.0:0.0	.	743;700;461;812	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	L	743;812;700;293;193;461	ENSP00000438786:Q743L;ENSP00000356370:Q812L;ENSP00000356369:Q700L;ENSP00000444556:Q293L;ENSP00000356367:Q193L	ENSP00000356367:Q193L	Q	+	2	0	CRB1	195663513	0.996000	0.38824	0.997000	0.53966	0.117000	0.20001	2.355000	0.44107	1.934000	0.56057	0.528000	0.53228	CAA		0.353	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		T	197396890	A	T	197396890	3	4	287	1	0	0	0	0	1	0	0	0	3850	130	5	5	2461	5	CRB1	1	197396890	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10	46317292	197396890	51853731	10	17072											
OR13G1	441933	hgsc.bcm.edu;ucsc.edu	37	1	247835536	247835536	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:247835536delC	ENST00000359688.2	-	1	829	c.808delG	c.(808-810)gtgfs	p.V271fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCAGCTACCACCTTGTCTCTT	0.458																																																0													130	125	127					1																	247835536		2203	4300	6503	SO:0001589	frameshift_variant	441933			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.808delG	1.37:g.247835536delC	ENSP00000352717:p.Val271fs		B2RN80|Q5T2T2|Q6IF86	Frame_Shift_Del	DEL	ENST00000359688.2	37	CCDS31094.1																																																																																				0.458	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		-	247835536	C	-	247835536	7	5	287	1	0	1	0	1	0	0	0	0	10944	507	18	0	119	0	OR13G1	1	247835536	Frame_Shift_Del	DEL	C	TCGA-B8-5550-01A-01D-1534-10	50438646	247835536	1415085	11	17073											
PGBD2	267002	hgsc.bcm.edu;ucsc.edu	37	1	249212354	249212354	+	Missense_Mutation	SNP	A	A	C	rs368710878		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:249212354A>C	ENST00000329291.5	+	3	1718	c.1571A>C	c.(1570-1572)tAt>tCt	p.Y524S	PGBD2_ENST00000355360.4_Missense_Mutation_p.Y273S|PGBD2_ENST00000539153.1_Missense_Mutation_p.Y521S	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	524										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCCTGTGTGTATCTGGAGAGC	0.527																																																0													108	96	100					1																	249212354		2203	4300	6503	SO:0001583	missense	267002			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1571A>C	1.37:g.249212354A>C	ENSP00000331643:p.Tyr524Ser		B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	8.496	0.863085	0.17250	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.14266	2.52;2.7;2.7	3.05	3.05	0.35203	.	0.278346	0.24649	N	0.036725	T	0.19525	0.0469	N	0.22421	0.69	0.28385	N	0.919342	D;D	0.89917	1.0;0.999	D;D	0.83275	0.992;0.996	T	0.01420	-1.1359	10	0.51188	T	0.08	.	7.8936	0.29693	1.0:0.0:0.0:0.0	.	521;524	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	S	273;524;521	ENSP00000355424:Y273S;ENSP00000331643:Y524S;ENSP00000439950:Y521S	ENSP00000331643:Y524S	Y	+	2	0	PGBD2	247178977	0.999000	0.42202	0.970000	0.41538	0.114000	0.19823	1.957000	0.40392	1.627000	0.50400	0.383000	0.25322	TAT		0.527	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			C	249212354	A	C	249212354	3	2	287	1	0	0	0	0	1	0	0	0	11783	449	16	5	1577	5	PGBD2	1	249212354	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10	1376818	249212354	38267	12	17074											
AFTPH	54812	hgsc.bcm.edu;ucsc.edu	37	2	64779745	64779769	+	Frame_Shift_Del	DEL	AGTTGGTTCTCCCAAAGAAGAAAGT	AGTTGGTTCTCCCAAAGAAGAAAGT	-	rs201990175|rs200659368		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	AGTTGGTTCTCCCAAAGAAGAAAGT	AGTTGGTTCTCCCAAAGAAGAAAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:64779745_64779769delAGTTGGTTCTCCCAAAGAAGAAAGT	ENST00000422803.1	+	2	1451_1475	c.1137_1161delAGTTGGTTCTCCCAAAGAAGAAAGT	c.(1135-1161)gaagttggttctcccaaagaagaaagtfs	p.EVGSPKEES379fs	AFTPH_ENST00000238856.4_Frame_Shift_Del_p.EVGSPKEES379fs|AFTPH_ENST00000238855.7_Frame_Shift_Del_p.EVGSPKEES379fs|AFTPH_ENST00000409183.1_Frame_Shift_Del_p.EVGSPKEES10fs|AFTPH_ENST00000409933.1_Frame_Shift_Del_p.EVGSPKEES379fs			Q6ULP2	AFTIN_HUMAN	aftiphilin	379					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CTGATGATGAAGTTGGTTCTCCCAAAGAAGAAAGTAGAAAGTTTA	0.338																																																0																																										SO:0001589	frameshift_variant	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1137_1161delAGTTGGTTCTCCCAAAGAAGAAAGT	2.37:g.64779745_64779769delAGTTGGTTCTCCCAAAGAAGAAAGT	ENSP00000397726:p.Glu379fs		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Frame_Shift_Del	DEL	ENST00000422803.1	37																																																																																					0.338	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		-	64779769	AGTTGGTTCTCCCAAAGAAGAAAGT	-	64779745	7	5	287	1	0	1	0	1	0	0	0	0	364	69	3	0	1139	0	AFTPH	2	64779745	Frame_Shift_Del	DEL	AGTTGGTTCTCCCAAAGAAGAAAGT	TCGA-B8-5550-01A-01D-1534-10		64779745	178419628	13	17075											
ANTXR1	84168	hgsc.bcm.edu;ucsc.edu	37	2	69409628	69409628	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:69409628C>T	ENST00000303714.4	+	16	1511	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	397					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATTTTAGGTTCGTTGGGGAGA	0.413									Familial Infantile Hemangioma																																							0													74	71	72					2																	69409628		2203	4300	6503	SO:0001583	missense	84168	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1189C>T	2.37:g.69409628C>T	ENSP00000301945:p.Arg397Cys		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685499	0.68157	.	.	ENSG00000169604	ENST00000303714	D	0.84442	-1.85	5.32	5.32	0.75619	Anthrax toxin receptor, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92496	0.7617	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92982	0.6407	10	0.87932	D	0	-13.21	18.1548	0.89687	0.0:1.0:0.0:0.0	.	397	Q9H6X2	ANTR1_HUMAN	C	397	ENSP00000301945:R397C	ENSP00000301945:R397C	R	+	1	0	ANTXR1	69263132	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.109000	0.77062	2.769000	0.95229	0.561000	0.74099	CGT		0.413	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		T	69409628	C	T	69409628	3	4	287	1	0	0	0	0	1	0	0	0	711	884	31	1	1328	1	ANTXR1	2	69409628	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	4629883	69409628	173789745	14	17076											
NAT8B	0	hgsc.bcm.edu;ucsc.edu	37	2	73928331	73928331	+	IGR	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:73928331C>T								ALMS1P (15628 upstream) : TPRKB (28625 downstream)																							TCAGTAATCGCCGGAAGGTGG	0.612																																																0													68	74	72					2																	73928331		2202	4300	6502	SO:0001628	intergenic_variant	51471																															2.37:g.73928331C>T				Silent	SNP		37																																																																																				0	0.612									T	73928331	C	T	73928331	1	4	287	0	1	0	0	0	0	0	0	0	10182	726	26	2		2	NAT8B	2	73928331	IGR	SNP	C	TCGA-B8-5550-01A-01D-1534-10	4518703	73928331	169271042	15	17077											
POLR1B	84172	hgsc.bcm.edu;ucsc.edu	37	2	113316975	113316975	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:113316975C>T	ENST00000263331.5	+	9	2016	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Missense_Mutation_p.A268V|POLR1B_ENST00000541869.1_Missense_Mutation_p.A517V|POLR1B_ENST00000417433.2_Missense_Mutation_p.A423V	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	479					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GCTGATTTTGCCAAGATGAGG	0.572																																					Ovarian(16;256 576 9537 23969 41147)											0													125	122	123					2																	113316975		2203	4300	6503	SO:0001583	missense	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1436C>T	2.37:g.113316975C>T	ENSP00000263331:p.Ala479Val		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578513	0.96565	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.85	5.85	0.93711	RNA polymerase Rpb2, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.88976	0.6584	M	0.91196	3.185	0.80722	D	1	D;P;D	0.64830	0.994;0.939;0.972	D;P;P	0.64776	0.929;0.461;0.844	D	0.89337	0.3651	10	0.44086	T	0.13	-25.8989	12.9731	0.58524	0.0:0.9227:0.0:0.0773	.	517;423;479	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	V	479;517;268;423	ENSP00000263331:A479V;ENSP00000444136:A517V;ENSP00000437914:A268V;ENSP00000405358:A423V	ENSP00000263331:A479V	A	+	2	0	POLR1B	113033446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.727000	0.68523	2.771000	0.95319	0.561000	0.74099	GCC		0.572	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		T	113316975	C	T	113316975	3	4	287	1	0	0	0	0	1	0	0	0	12212	739	26	2	1470	2	POLR1B	2	113316975	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	39388644	113316975	129882398	16	17078											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179595296	179595296	+	Silent	SNP	T	T	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:179595296T>C	ENST00000591111.1	-	59	17237	c.17013A>G	c.(17011-17013)acA>acG	p.T5671T	TTN_ENST00000589042.1_Silent_p.T5988T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.T4744T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12480	Ig-like 37.				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)			AACAAGTGTATGTCCCACTGT	0.413																																																0													122	120	121					2																	179595296		1951	4137	6088	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17013A>G	2.37:g.179595296T>C			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179595296	T	C	179595296	2	2	287	1	0	0	0	0	0	0	0	1	16740	1451	51	3		3	TTN	2	179595296	Silent	SNP	T	TCGA-B8-5550-01A-01D-1534-10	66278321	179595296	63604077	17	17079											
PIKFYVE	200576	hgsc.bcm.edu;ucsc.edu	37	2	209136347	209136347	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:209136347C>A	ENST00000264380.4	+	2	262	c.104C>A	c.(103-105)cCt>cAt	p.P35H	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.P35H|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.P35H|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.P35H	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	35					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCTTTGACTCCTGATCAAGAT	0.388																																																0													196	186	189					2																	209136347		2203	4300	6503	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.104C>A	2.37:g.209136347C>A	ENSP00000264380:p.Pro35His		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235666	0.79800	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000422495;ENST00000452564	T;T;T;T	0.80994	0.27;-1.44;-1.21;0.24	5.23	4.35	0.52113	.	0.066249	0.64402	D	0.000009	T	0.82061	0.4955	N	0.24115	0.695	0.30782	N	0.741867	D;D;D;P;D	0.89917	1.0;0.998;0.979;0.881;0.979	D;P;P;B;P	0.87578	0.998;0.819;0.627;0.424;0.627	T	0.81673	-0.0826	10	0.72032	D	0.01	-8.9614	12.0831	0.53682	0.0:0.9198:0.0:0.0802	.	35;35;35;35;35	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	H	35	ENSP00000264380:P35H;ENSP00000384356:P35H;ENSP00000414477:P35H;ENSP00000405736:P35H	ENSP00000264380:P35H	P	+	2	0	PIKFYVE	208844592	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.526000	0.81920	1.217000	0.43442	0.655000	0.94253	CCT		0.388	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		A	209136347	C	A	209136347	3	1	287	1	0	0	0	0	1	0	0	0	11926	681	24	4	106	4	PIKFYVE	2	209136347	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	29541051	209136347	34063026	18	17080											
KIF1A	547	hgsc.bcm.edu;ucsc.edu	37	2	241725926	241725926	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:241725926C>A	ENST00000320389.7	-	6	592	c.434G>T	c.(433-435)aGc>aTc	p.S145I	KIF1A_ENST00000498729.2_Missense_Mutation_p.S145I	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	145	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCATGTAGCTGACCTGCAG	0.642																																																0													79	83	82					2																	241725926		2036	4196	6232	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.434G>T	2.37:g.241725926C>A	ENSP00000322791:p.Ser145Ile		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781532	0.90282	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.91996	-2.95;-2.95;-2.95	4.55	4.55	0.56014	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	D	0.97974	0.9333	H	0.99211	4.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99891	1.1134	10	0.87932	D	0	.	17.3339	0.87274	0.0:1.0:0.0:0.0	.	145;145;145	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	I	145	ENSP00000322791:S145I;ENSP00000438388:S145I;ENSP00000384231:S145I	ENSP00000322791:S145I	S	-	2	0	KIF1A	241374599	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.565000	0.82337	2.087000	0.62958	0.643000	0.83706	AGC		0.642	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		A	241725926	C	A	241725926	3	1	287	1	0	0	0	0	1	0	0	0	8285	797	28	4	4806	4	KIF1A	2	241725926	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	32589579	241725926	1473447	19	17081											
BHLHE40	8553	hgsc.bcm.edu;ucsc.edu	37	3	5022085	5022085	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr3:5022085A>G	ENST00000256495.3	+	3	853	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E	BHLHE40-AS1_ENST00000434530.1_RNA|BHLHE40-AS1_ENST00000420832.1_RNA|BHLHE40-AS1_ENST00000441386.2_RNA	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	84	Essential for its interaction with ARNTL/BMAL1, E-box binding and repressor activity against the CLOCK-ARNTL/BMAL1 heterodimer.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CGAACATCTCAAACTTACAGT	0.582											OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													56	58	58					3																	5022085		2203	4300	6503	SO:0001583	missense	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.250A>G	3.37:g.5022085A>G	ENSP00000256495:p.Lys84Glu	623	Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456633	0.84317	.	.	ENSG00000134107	ENST00000256495	D	0.97888	-4.59	3.99	3.99	0.46301	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96390	0.8822	N	0.16066	0.365	0.80722	D	1	P	0.45986	0.87	D	0.63597	0.916	D	0.95117	0.8243	10	0.27785	T	0.31	.	13.2035	0.59782	1.0:0.0:0.0:0.0	.	84	O14503	BHE40_HUMAN	E	84	ENSP00000256495:K84E	ENSP00000256495:K84E	K	+	1	0	BHLHE40	4997085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.781000	0.91805	1.584000	0.49913	0.482000	0.46254	AAA		0.582	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		G	5022085	A	G	5022085	3	3	287	1	0	0	0	0	1	0	0	0	1423	131	5	3	260	3	BHLHE40	3	5022085	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10		5022085	193000345	20	17082											
STX19	415117	hgsc.bcm.edu;ucsc.edu	37	3	93733337	93733337	+	Silent	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr3:93733337C>T	ENST00000315099.2	-	2	1033	c.777G>A	c.(775-777)gaG>gaA	p.E259E	ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	259	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TGTTAACATACTCTTTTGTAC	0.338																																																0													69	67	68					3																	93733337		2203	4298	6501	SO:0001819	synonymous_variant	415117			AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.777G>A	3.37:g.93733337C>T				Silent	SNP	ENST00000315099.2	37	CCDS33793.1																																																																																				0.338	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		T	93733337	C	T	93733337	2	4	287	1	0	0	0	0	0	0	0	1	15347	564	20	2		2	STX19	3	93733337	Silent	SNP	C	TCGA-B8-5550-01A-01D-1534-10	88711252	93733337	104289093	21	17083											
AASDH	132949	hgsc.bcm.edu;ucsc.edu	37	4	57216203	57216203	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr4:57216203C>A	ENST00000205214.6	-	11	1894	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	AASDH_ENST00000451613.1_Missense_Mutation_p.D572Y|AASDH_ENST00000502617.1_Missense_Mutation_p.D572Y|AASDH_ENST00000434343.2_Missense_Mutation_p.D87Y|AASDH_ENST00000602986.1_Missense_Mutation_p.D419Y|AASDH_ENST00000513376.1_Missense_Mutation_p.D472Y	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	572	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTCAAAAGATCTTCTGGGAGA	0.383																																																0													24	23	23					4																	57216203		2001	4167	6168	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1714G>T	4.37:g.57216203C>A	ENSP00000205214:p.Asp572Tyr		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039712	0.75732	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.67	4.81	0.61882	Acyl carrier protein-like (2);Phosphopantetheine-binding (1);	0.042079	0.85682	D	0.000000	T	0.68393	0.2996	M	0.74258	2.255	0.58432	D	0.999995	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.72075	0.946;0.961;0.961;0.976	T	0.72887	-0.4156	10	0.66056	D	0.02	-19.2544	15.7475	0.77958	0.1375:0.8625:0.0:0.0	.	419;572;572;572	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	Y	572;472;87;572;419;572	ENSP00000205214:D572Y;ENSP00000423760:D472Y;ENSP00000392158:D87Y;ENSP00000409656:D572Y;ENSP00000421171:D572Y	ENSP00000205214:D572Y	D	-	1	0	AASDH	56910960	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	2.951000	0.49089	1.332000	0.45431	0.609000	0.83330	GAT		0.383	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		A	57216203	C	A	57216203	3	1	287	1	0	0	0	0	1	0	0	0	22	913	32	4	1602	4	AASDH	4	57216203	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10		57216203	133938073	22	17084											
SPP1	6696	hgsc.bcm.edu;ucsc.edu	37	4	88902880	88902880	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr4:88902880A>G	ENST00000395080.3	+	6	597	c.470A>G	c.(469-471)gAt>gGt	p.D157G	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Missense_Mutation_p.D130G|SPP1_ENST00000237623.7_Missense_Mutation_p.D143G	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	157					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GACACATATGATGGCCGAGGT	0.463																																																0													162	149	153					4																	88902880		2203	4300	6503	SO:0001583	missense	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"Endogenous ligands"	11255	protein-coding gene	gene with protein product	"early T-lymphocyte activation 1"	166490	"osteopontin", "bone sialoprotein I"	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.470A>G	4.37:g.88902880A>G	ENSP00000378517:p.Asp157Gly		B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.857164	0.32791	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.49	4.17	0.49024	.	0.492688	0.20028	N	0.100769	T	0.47710	0.1460	L	0.50333	1.59	0.21020	N	0.999801	B;D;B;D;B	0.64830	0.024;0.994;0.024;0.992;0.024	B;P;B;P;B	0.62298	0.046;0.9;0.037;0.802;0.046	T	0.39014	-0.9634	10	0.37606	T	0.19	-10.7547	3.8323	0.08879	0.6525:0.214:0.1335:0.0	.	170;116;143;130;157	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	G	135;116;143;157;130;116	ENSP00000237623:D143G;ENSP00000378517:D157G;ENSP00000354042:D130G;ENSP00000422973:D116G	ENSP00000237623:D143G	D	+	2	0	SPP1	89121904	0.705000	0.27846	0.907000	0.35723	0.105000	0.19272	2.103000	0.41806	2.196000	0.70406	0.519000	0.50382	GAT		0.463	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			G	88902880	A	G	88902880	3	3	287	1	0	0	0	0	1	0	0	0	15091	333	12	3	488	3	SPP1	4	88902880	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10	31686677	88902880	102251396	23	17085											
PCDH18	54510	hgsc.bcm.edu;ucsc.edu	37	4	138452585	138452585	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr4:138452585C>T	ENST00000344876.4	-	1	1044	c.658G>A	c.(658-660)Gac>Aac	p.D220N	PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D220N|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACTCCCATGTCTGAGGCAGTG	0.468																																																0													69	69	69					4																	138452585		2203	4300	6503	SO:0001583	missense	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.658G>A	4.37:g.138452585C>T	ENSP00000355082:p.Asp220Asn		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683814	0.88639	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.65364	-0.15;-0.15	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.43110	U	0.000613	D	0.87561	0.6208	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91443	0.5175	10	0.87932	D	0	.	19.851	0.96740	0.0:1.0:0.0:0.0	.	220;220	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	N	220	ENSP00000355082:D220N;ENSP00000390688:D220N	ENSP00000355082:D220N	D	-	1	0	PCDH18	138672035	1.000000	0.71417	0.954000	0.39281	0.921000	0.55340	7.770000	0.85390	2.687000	0.91594	0.557000	0.71058	GAC		0.468	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		T	138452585	C	T	138452585	3	4	287	1	0	0	0	0	1	0	0	0	11515	913	32	2	2765	2	PCDH18	4	138452585	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	49549705	138452585	52701691	24	17086											
C4orf49	84709	hgsc.bcm.edu;ucsc.edu	37	4	140188044	140188044	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr4:140188044C>A	ENST00000398955.1	-	4	611	c.432G>T	c.(430-432)gaG>gaT	p.E144D		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	144					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											CCGGAGCAGCCTCCACGTGAC	0.542																																																0													156	152	153					4																	140188044		2062	4208	6270	SO:0001583	missense	0			AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"ovary-specific acidic protein", "corneal endothelium-specific protein 1", "hypoxia up-regulated mitochondrial movement regulator"		"chromosome 4 open reading frame 49"	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.432G>T	4.37:g.140188044C>A	ENSP00000381928:p.Glu144Asp		Q9BZC3	Missense_Mutation	SNP	ENST00000398955.1	37	CCDS43269.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286444	0.40494	.	.	ENSG00000137463	ENST00000398955	T	0.51817	0.69	4.9	0.865	0.19074	.	0.879803	0.09582	N	0.782673	T	0.28400	0.0702	L	0.29908	0.895	0.09310	N	0.99999	B	0.21225	0.053	B	0.21917	0.037	T	0.25047	-1.0143	10	0.18276	T	0.48	-8.3304	1.1236	0.01730	0.17:0.4149:0.2109:0.2042	.	144	Q8TDB4	CD049_HUMAN	D	144	ENSP00000381928:E144D	ENSP00000381928:E144D	E	-	3	2	C4orf49	140407494	0.000000	0.05858	0.001000	0.08648	0.300000	0.27592	-0.058000	0.11750	0.244000	0.21351	0.467000	0.42956	GAG		0.542	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		A	140188044	C	A	140188044	3	1	287	1	0	0	0	0	1	0	0	0	2277	680	24	4	294	4	C4orf49	4	140188044	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	1735459	140188044	50966232	25	17087											
FAT1	2195	hgsc.bcm.edu;ucsc.edu	37	4	187539377	187539377	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr4:187539377T>G	ENST00000441802.2	-	10	8572	c.8363A>C	c.(8362-8364)gAg>gCg	p.E2788A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2788	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCCACCATCTCATGGTCATC	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													205	202	203					4																	187539377		1974	4164	6138	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8363A>C	4.37:g.187539377T>G	ENSP00000406229:p.Glu2788Ala			Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273885	0.23221	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.50001	0.76	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.275863	0.41097	D	0.000959	T	0.41442	0.1159	L	0.35593	1.075	0.50039	D	0.999848	P	0.46512	0.879	P	0.46796	0.527	T	0.15206	-1.0445	10	0.09590	T	0.72	.	15.1541	0.72726	0.0:0.0:0.0:1.0	.	2788	Q14517	FAT1_HUMAN	A	2788;2790	ENSP00000406229:E2788A	ENSP00000260147:E2790A	E	-	2	0	FAT1	187776371	0.999000	0.42202	0.976000	0.42696	0.019000	0.09904	5.022000	0.64078	2.225000	0.72522	0.533000	0.62120	GAG		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		G	187539377	T	G	187539377	3	3	287	1	0	0	0	0	1	0	0	0	5691	1551	54	5	5475	5	FAT1	4	187539377	Missense_Mutation	SNP	T	TCGA-B8-5550-01A-01D-1534-10	47351333	187539377	3614899	26	17088											
DNAH5	1767	hgsc.bcm.edu;ucsc.edu	37	5	13717541	13717541	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:13717541C>A	ENST00000265104.4	-	73	12692	c.12588G>T	c.(12586-12588)caG>caT	p.Q4196H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4196	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCGCCTCTCCTGGACAGTGG	0.552									Kartagener syndrome																																							0													67	61	63					5																	13717541		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12588G>T	5.37:g.13717541C>A	ENSP00000265104:p.Gln4196His		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662071	0.67700	.	.	ENSG00000039139	ENST00000265104	T	0.10099	2.91	5.45	3.42	0.39159	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.27502	-1.0072	10	0.87932	D	0	.	6.1357	0.20230	0.0:0.6573:0.0:0.3427	.	4196	Q8TE73	DYH5_HUMAN	H	4196	ENSP00000265104:Q4196H	ENSP00000265104:Q4196H	Q	-	3	2	DNAH5	13770541	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.389000	0.34453	1.305000	0.44909	0.655000	0.94253	CAG		0.552	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13717541	C	A	13717541	3	1	287	1	0	0	0	0	1	0	0	0	4606	680	24	4	1314	4	DNAH5	5	13717541	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10		13717541	167197719	27	17089											
TTC23L	153657	hgsc.bcm.edu;ucsc.edu	37	5	34880314	34880314	+	Silent	SNP	T	T	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:34880314T>C	ENST00000505624.1	+	9	1081	c.978T>C	c.(976-978)agT>agC	p.S326S	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	326										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TCATAAGAAGTATCAATGCAT	0.363																																																0													99	95	97					5																	34880314		1825	4091	5916	SO:0001819	synonymous_variant	153657				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.978T>C	5.37:g.34880314T>C			Q6RGS4|Q8N7R3|Q96LJ2	Silent	SNP	ENST00000505624.1	37	CCDS54840.1																																																																																				0.363	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		C	34880314	T	C	34880314	2	2	287	1	0	0	0	0	0	0	0	1	16696	1635	57	3		3	TTC23L	5	34880314	Silent	SNP	T	TCGA-B8-5550-01A-01D-1534-10	21162773	34880314	146034946	28	17090											
AQPEP	206338	hgsc.bcm.edu;ucsc.edu	37	5	115348099	115348099	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:115348099T>A	ENST00000357872.4	+	15	2400	c.2276T>A	c.(2275-2277)aTa>aAa	p.I759K		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		759						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CTTAATTTAATATGGAATATT	0.279																																																0													49	57	54					5																	115348099		2191	4253	6444	SO:0001583	missense	206338																														ENST00000357872.4:c.2276T>A	5.37:g.115348099T>A	ENSP00000350541:p.Ile759Lys		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.686958	0.48097	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.06528	3.29	5.43	4.27	0.50696	.	0.244995	0.33235	N	0.005128	T	0.19644	0.0472	M	0.75264	2.295	0.80722	D	1	D	0.64830	0.994	D	0.63703	0.917	T	0.00287	-1.1846	10	0.87932	D	0	.	8.3273	0.32165	0.0:0.0901:0.0:0.9099	.	759	Q6Q4G3	AMPQ_HUMAN	K	759;748	ENSP00000350541:I759K	ENSP00000350541:I759K	I	+	2	0	AC010282.1	115375998	0.993000	0.37304	0.695000	0.30226	0.449000	0.32228	2.677000	0.46892	0.992000	0.38840	-0.256000	0.11100	ATA		0.279	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			A	115348099	T	A	115348099	3	1	287	1	0	0	0	0	1	0	0	0	834	1406	49	5	2334	5	AQPEP	5	115348099	Missense_Mutation	SNP	T	TCGA-B8-5550-01A-01D-1534-10	80467785	115348099	65567161	29	17091											
PCDHB4	56131	hgsc.bcm.edu	37	5	140502934	140502934	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:140502934C>A	ENST00000194152.1	+	1	1354	c.1354C>A	c.(1354-1356)Caa>Aaa	p.Q452K	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	452					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCTTCACCCAAACCTCCTA	0.617																																																0													83	81	81					5																	140502934		2203	4297	6500	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1354C>A	5.37:g.140502934C>A	ENSP00000194152:p.Gln452Lys		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	5.874	0.345378	0.11126	.	.	ENSG00000081818	ENST00000194152	T	0.61627	0.09	3.97	3.97	0.46021	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.44095	0.1277	N	0.21373	0.66	0.09310	N	1	P	0.40875	0.731	B	0.39119	0.291	T	0.39035	-0.9633	9	0.72032	D	0.01	.	10.7088	0.45971	0.3192:0.6807:0.0:0.0	.	452	Q9Y5E5	PCDB4_HUMAN	K	452	ENSP00000194152:Q452K	ENSP00000194152:Q452K	Q	+	1	0	PCDHB4	140483118	0.006000	0.16342	0.145000	0.22337	0.026000	0.11368	0.575000	0.23729	2.238000	0.73509	0.558000	0.71614	CAA		0.617	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		A	140502934	C	A	140502934	3	1	287	1	0	0	0	0	1	0	0	0	11546	595	21	4	1356	4	PCDHB4	5	140502934	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	25154835	140502934	40412326	30	17092											
ARHGAP26	23092	hgsc.bcm.edu;ucsc.edu	37	5	142500712	142500712	+	Splice_Site	SNP	G	G	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:142500712G>C	ENST00000274498.4	+	18	2076	c.1698G>C	c.(1696-1698)aaG>aaC	p.K566N	ARHGAP26_ENST00000378004.3_Splice_Site_p.K566N	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	566	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCACGAAAAGGTAATATGTA	0.428																																																0													92	84	87					5																	142500712		2203	4300	6503	SO:0001630	splice_region_variant	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1698+1G>C	5.37:g.142500712G>C			O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.593273|4.593273	0.86953|0.86953	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668|ENST00000443674;ENST00000418236	T;T|.	0.22743|.	1.94;1.94|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);|.	0.100496|.	0.64402|.	D|.	0.000002|.	T|T	0.74030|0.74030	0.3663|0.3663	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	D;D;P|.	0.69078|.	0.994;0.997;0.856|.	P;D;P|.	0.67382|.	0.904;0.951;0.757|.	T|T	0.72130|0.72130	-0.4383|-0.4383	10|5	0.72032|.	D|.	0.01|.	.|.	19.1627|19.1627	0.93541|0.93541	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	566;139;566|.	Q9UNA1;B3KT96;Q9UNA1-2|.	RHG26_HUMAN;.;.|.	N|T	566;566;139|185;138	ENSP00000274498:K566N;ENSP00000367243:K566N|.	ENSP00000274498:K566N|.	K|R	+|+	3|2	2|0	ARHGAP26|ARHGAP26	142480905|142480905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.875000|0.875000	0.50365|0.50365	9.476000|9.476000	0.97823|0.97823	2.515000|2.515000	0.84797|0.84797	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.428	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	Missense_Mutation	C	142500712	G	C	142500712	5	2	287	1	0	0	0	0	0	0	1	0	875	1014	35	4	1768	4	ARHGAP26	5	142500712	Splice_Site	SNP	G	TCGA-B8-5550-01A-01D-1534-10	1997778	142500712	38414548	31	17093											
SPINK5	11005	hgsc.bcm.edu;ucsc.edu	37	5	147505289	147505289	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:147505289G>A	ENST00000256084.7	+	29	2785	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K	SPINK5_ENST00000359874.3_Missense_Mutation_p.E945K	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	915	Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTAGGATGAGTGCAGTGA	0.408																																																0													181	178	179					5																	147505289		1911	4118	6029	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2743G>A	5.37:g.147505289G>A	ENSP00000256084:p.Glu915Lys		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	4.878	0.163174	0.09287	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.06449	3.3;3.3	5.1	3.32	0.38043	Proteinase inhibitor I1, Kazal (1);	0.872449	0.09860	N	0.746322	T	0.05044	0.0135	L	0.31294	0.92	0.26751	N	0.970199	B;B	0.22746	0.074;0.019	B;B	0.22753	0.041;0.033	T	0.43278	-0.9401	10	0.07813	T	0.8	-8.2993	8.8553	0.35225	0.1675:0.0:0.8325:0.0	.	945;915	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	K	945;915	ENSP00000352936:E945K;ENSP00000256084:E915K	ENSP00000256084:E915K	E	+	1	0	SPINK5	147485482	0.011000	0.17503	0.688000	0.30117	0.541000	0.35023	0.178000	0.16820	0.821000	0.34540	0.655000	0.94253	GAG		0.408	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		A	147505289	G	A	147505289	3	1	287	1	0	0	0	0	1	0	0	0	15067	1291	45	2	2963	2	SPINK5	5	147505289	Missense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10	5004577	147505289	33409971	32	17094											
SPARC	6678	hgsc.bcm.edu;ucsc.edu	37	5	151049279	151049279	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:151049279delC	ENST00000231061.4	-	6	710	c.397delG	c.(397-399)gagfs	p.E133fs	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	133	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TTGGTGCCCTCCAGGGTGCAC	0.557																																																0													124	112	116					5																	151049279		2203	4300	6503	SO:0001589	frameshift_variant	6678				CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"cysteine-rich protein", "osteonectin"	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.397delG	5.37:g.151049279delC	ENSP00000231061:p.Glu133fs		D3DQH9|Q6IBK4	Frame_Shift_Del	DEL	ENST00000231061.4	37	CCDS4318.1																																																																																				0.557	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		-	151049279	C	-	151049279	7	5	287	1	0	1	0	1	0	0	0	0	15000	864	30	0	534	0	SPARC	5	151049279	Frame_Shift_Del	DEL	C	TCGA-B8-5550-01A-01D-1534-10	3543990	151049279	29865981	33	17095											
CYFIP2	26999	hgsc.bcm.edu;ucsc.edu	37	5	156750963	156750963	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:156750963T>C	ENST00000521420.1	+	15	1719	c.1628T>C	c.(1627-1629)aTt>aCt	p.I543T	CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.I569T|CYFIP2_ENST00000522463.1_Missense_Mutation_p.I373T|CYFIP2_ENST00000435847.2_Missense_Mutation_p.I268T|CYFIP2_ENST00000318218.6_Missense_Mutation_p.I594T|CYFIP2_ENST00000541131.1_Missense_Mutation_p.I494T|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000347377.6_Missense_Mutation_p.I569T					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAATCACTCATTGCAGACAAA	0.502																																																0													60	57	58					5																	156750963		1925	4129	6054	SO:0001583	missense	26999			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1628T>C	5.37:g.156750963T>C	ENSP00000430904:p.Ile543Thr			Missense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	T	22.1	4.250632	0.80135	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.91	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	M	0.77103	2.36	0.80722	D	1	B;B;D;B;B;B	0.55800	0.08;0.25;0.973;0.021;0.1;0.134	B;B;P;B;B;B	0.58013	0.067;0.158;0.831;0.015;0.073;0.046	T	0.50558	-0.8814	10	0.44086	T	0.13	-31.3696	12.3726	0.55263	0.1265:0.0:0.0:0.8735	.	433;373;543;569;569;594	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	T	594;373;543;569;569;494;268	ENSP00000325817:I594T;ENSP00000428009:I373T;ENSP00000430904:I543T;ENSP00000313567:I569T;ENSP00000366799:I569T;ENSP00000444645:I494T;ENSP00000403793:I268T	ENSP00000325817:I594T	I	+	2	0	CYFIP2	156683541	1.000000	0.71417	0.993000	0.49108	0.951000	0.60555	7.997000	0.88414	1.034000	0.39945	0.533000	0.62120	ATT		0.502	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		C	156750963	T	C	156750963	3	2	287	1	0	0	0	0	1	0	0	0	4140	1493	52	3	1764	3	CYFIP2	5	156750963	Missense_Mutation	SNP	T	TCGA-B8-5550-01A-01D-1534-10	5701684	156750963	24164297	34	17096											
CPEB4	80315	hgsc.bcm.edu;ucsc.edu	37	5	173317715	173317715	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:173317715delC	ENST00000265085.5	+	1	2433	c.979delC	c.(979-981)cccfs	p.P327fs	CPEB4_ENST00000334035.5_Frame_Shift_Del_p.P327fs|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.P327fs|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.P327fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	327					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGAATAACGCCCCTGAACTC	0.547																																																0													62	62	62					5																	173317715		2203	4300	6503	SO:0001589	frameshift_variant	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.979delC	5.37:g.173317715delC	ENSP00000265085:p.Pro327fs		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Frame_Shift_Del	DEL	ENST00000265085.5	37	CCDS4390.1																																																																																				0.547	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		-	173317715	C	-	173317715	7	5	287	1	0	1	0	1	0	0	0	0	3805	739	26	0	981	0	CPEB4	5	173317715	Frame_Shift_Del	DEL	C	TCGA-B8-5550-01A-01D-1534-10	16566752	173317715	7597545	35	17097											
DNAH8	1769	hgsc.bcm.edu;ucsc.edu	37	6	38881667	38881667	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr6:38881667T>A	ENST00000359357.3	+	65	9505	c.9251T>A	c.(9250-9252)cTc>cAc	p.L3084H	DNAH8_ENST00000449981.2_Missense_Mutation_p.L3301H|DNAH8_ENST00000441566.1_Missense_Mutation_p.L3048H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3084	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTGCTAAACTCTCTCAGGAT	0.373																																																0													140	137	138					6																	38881667		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9251T>A	6.37:g.38881667T>A	ENSP00000352312:p.Leu3084His		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	26.6	4.750767	0.89753	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	D;D;D	0.81908	-1.55;-1.55;-1.55	6.08	6.08	0.98989	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95363	0.8457	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	3084	Q96JB1	DYH8_HUMAN	H	3289;3289;3084;3048	ENSP00000333363:L3289H;ENSP00000352312:L3084H;ENSP00000402294:L3048H	ENSP00000333363:L3289H	L	+	2	0	DNAH8	38989645	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.793000	0.85851	2.333000	0.79357	0.533000	0.62120	CTC		0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38881667	T	A	38881667	3	1	287	1	0	0	0	0	1	0	0	0	4609	1551	54	5	9501	5	DNAH8	6	38881667	Missense_Mutation	SNP	T	TCGA-B8-5550-01A-01D-1534-10		38881667	132233400	36	17098											
IL17A	3605	hgsc.bcm.edu;ucsc.edu	37	6	52054066	52054066	+	Silent	SNP	C	C	A	rs201642273		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr6:52054066C>A	ENST00000340057.1	+	3	489	c.444C>A	c.(442-444)acC>acA	p.T148T		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	148					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCTGTGTCACCCCGATTGTCC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17560	0.0		0.0	False		,,,				2504	0.0															0													65	58	60					6																	52054066		2203	4300	6503	SO:0001819	synonymous_variant	3605			U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"Interleukins and interleukin receptors"	5981	protein-coding gene	gene with protein product	"cytotoxic T-lymphocyte-associated protein 8"	603149	"interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.444C>A	6.37:g.52054066C>A			Q5T2P0	Silent	SNP	ENST00000340057.1	37	CCDS4937.1																																																																																				0.612	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		A	52054066	C	A	52054066	2	1	287	1	0	0	0	0	0	0	0	1	7636	610	22	4		4	IL17A	6	52054066	Silent	SNP	C	TCGA-B8-5550-01A-01D-1534-10	13172399	52054066	119061001	37	17099											
DSE	29940	hgsc.bcm.edu;ucsc.edu	37	6	116757866	116757866	+	Silent	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr6:116757866C>T	ENST00000331677.3	+	7	2679	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N	DSE_ENST00000359564.2_Silent_p.N745N|DSE_ENST00000452085.3_Silent_p.N745N|DSE_ENST00000537543.1_Silent_p.N764N			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	745					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGGAACAGAACTTGCAGCATT	0.478																																																0													71	71	71					6																	116757866		2203	4300	6503	SO:0001819	synonymous_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2235C>T	6.37:g.116757866C>T			Q5R3K6	Silent	SNP	ENST00000331677.3	37	CCDS5107.1																																																																																				0.478	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		T	116757866	C	T	116757866	2	4	287	1	0	0	0	0	0	0	0	1	4776	564	20	2		2	DSE	6	116757866	Silent	SNP	C	TCGA-B8-5550-01A-01D-1534-10	64703800	116757866	54357201	38	17100											
ROS1	6098	hgsc.bcm.edu;ucsc.edu	37	6	117718129	117718129	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr6:117718129G>T	ENST00000368508.3	-	7	926	c.728C>A	c.(727-729)aCa>aAa	p.T243K	ROS1_ENST00000368507.3_Missense_Mutation_p.T252K|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	243	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTTCTCTGTGTCCCTGCATC	0.418			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													149	156	154					6																	117718129		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.728C>A	6.37:g.117718129G>T	ENSP00000357494:p.Thr243Lys		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837387	0.71373	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.54866	0.55;0.55	5.53	5.53	0.82687	.	0.090807	0.48286	D	0.000200	T	0.62060	0.2397	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.60306	-0.7289	10	0.33940	T	0.23	.	12.1408	0.53996	0.0873:0.0:0.9127:0.0	.	243	P08922	ROS1_HUMAN	K	243;252	ENSP00000357494:T243K;ENSP00000357493:T252K	ENSP00000357493:T252K	T	-	2	0	ROS1	117824822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.152000	0.77419	2.760000	0.94817	0.650000	0.86243	ACA		0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117718129	G	T	117718129	3	4	287	1	0	0	0	0	1	0	0	0	13537	1377	48	4	6463	4	ROS1	6	117718129	Missense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10	960263	117718129	53396938	39	17101											
C7orf10	79783	hgsc.bcm.edu;ucsc.edu	37	7	40488943	40488943	+	Missense_Mutation	SNP	G	G	C	rs375123333		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:40488943G>C	ENST00000335693.4	+	10	918	c.895G>C	c.(895-897)Gcc>Ccc	p.A299P	C7orf10_ENST00000309930.5_Missense_Mutation_p.A299P|C7orf10_ENST00000401647.2_Missense_Mutation_p.A251P	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		299					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCAGCAGTTTGCCACCGTCTG	0.373																																																0													113	107	109					7																	40488943		1832	4094	5926	SO:0001583	missense	79783																														ENST00000335693.4:c.895G>C	7.37:g.40488943G>C	ENSP00000338475:p.Ala299Pro		A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.38|11.38	1.620222|1.620222	0.28801|0.28801	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.76968|.	-1.06;-1.06;-1.06|.	5.4|5.4	2.5|2.5	0.30297|0.30297	CoA-transferase family III domain (2);|.	0.403091|.	0.25622|.	N|.	0.029415|.	T|T	0.62998|0.62998	0.2474|0.2474	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	P;P;P|.	0.47604|.	0.767;0.86;0.898|.	P;P;P|.	0.54026|.	0.74;0.74;0.622|.	T|T	0.57929|0.57929	-0.7726|-0.7726	10|5	0.30078|.	T|.	0.28|.	-6.2386|-6.2386	6.1338|6.1338	0.20219|0.20219	0.161:0.0:0.6891:0.1498|0.161:0.0:0.6891:0.1498	.|.	251;299;262|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	P|F	299;251;299|293	ENSP00000312054:A299P;ENSP00000385222:A251P;ENSP00000338475:A299P|.	ENSP00000312054:A299P|.	A|L	+|+	1|3	0|2	C7orf10|C7orf10	40455468|40455468	0.998000|0.998000	0.40836|0.40836	0.886000|0.886000	0.34754|0.34754	0.166000|0.166000	0.22503|0.22503	2.909000|2.909000	0.48758|0.48758	0.289000|0.289000	0.22422|0.22422	-0.142000|-0.142000	0.14014|0.14014	GCC|TTG		0.373	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			C	40488943	G	C	40488943	3	2	287	1	0	0	0	0	1	0	0	0	2378	1319	46	4	822	4	C7orf10	7	40488943	Missense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10		40488943	118649720	40	17102											
AKAP9	10142	hgsc.bcm.edu;ucsc.edu	37	7	91630212	91630212	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:91630212G>T	ENST00000359028.2	+	9	1242	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	AKAP9_ENST00000356239.3_Missense_Mutation_p.K327N|AKAP9_ENST00000358100.2_Missense_Mutation_p.K339N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	339	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			tacaggaaaaggagacaatca	0.279			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													16	15	15					7																	91630212		1716	3321	5037	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1017G>T	7.37:g.91630212G>T	ENSP00000351922:p.Lys339Asn		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	7.717	0.696452	0.15106	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.37235	1.21;1.21;1.21	5.56	0.708	0.18144	.	0.000000	0.41823	D	0.000809	T	0.50701	0.1631	L	0.56769	1.78	0.40006	D	0.975228	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.83275	0.986;0.996;0.925	T	0.49244	-0.8960	10	0.62326	D	0.03	.	10.0315	0.42103	0.5422:0.0:0.4578:0.0	.	327;327;339	Q99996-2;Q99996-3;A4D1E4	.;.;.	N	327;339;339;339;339	ENSP00000348573:K327N;ENSP00000351922:K339N;ENSP00000350813:K339N	ENSP00000348573:K327N	K	+	3	2	AKAP9	91468148	0.994000	0.37717	0.967000	0.41034	0.698000	0.40448	0.275000	0.18698	0.125000	0.18397	-0.145000	0.13849	AAG		0.279	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91630212	G	T	91630212	3	4	287	1	0	0	0	0	1	0	0	0	459	991	35	4	1011	4	AKAP9	7	91630212	Missense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10	51141269	91630212	67508451	41	17103											
AKAP9	10142	hgsc.bcm.edu;ucsc.edu	37	7	91724470	91724470	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:91724470G>T	ENST00000359028.2	+	40	9949	c.9724G>T	c.(9724-9726)Gat>Tat	p.D3242Y	AKAP9_ENST00000356239.3_Missense_Mutation_p.D3238Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.D3188Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3242					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAAGAACGGGATAAAGAAGA	0.398			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													95	102	100					7																	91724470		2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9724G>T	7.37:g.91724470G>T	ENSP00000351922:p.Asp3242Tyr		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	10.77	1.443191	0.25987	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03496	4.0;4.0;3.99;3.91	5.56	5.56	0.83823	.	0.219510	0.23252	N	0.050222	T	0.09642	0.0237	L	0.54323	1.7	0.20638	N	0.999877	D;D;P;D;D	0.56035	0.971;0.974;0.956;0.974;0.974	P;P;P;P;P	0.51135	0.646;0.66;0.459;0.66;0.66	T	0.06162	-1.0842	10	0.48119	T	0.1	.	16.0993	0.81158	0.0:0.134:0.866:0.0	.	513;3242;3242;3238;3230	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	Y	3238;3242;3188;3242;1084	ENSP00000348573:D3238Y;ENSP00000351922:D3242Y;ENSP00000350813:D3188Y;ENSP00000378042:D1084Y	ENSP00000348573:D3238Y	D	+	1	0	AKAP9	91562406	1.000000	0.71417	0.897000	0.35233	0.214000	0.24535	2.831000	0.48144	2.780000	0.95670	0.579000	0.79373	GAT		0.398	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91724470	G	T	91724470	3	4	287	1	0	0	0	0	1	0	0	0	459	1174	41	4	9870	4	AKAP9	7	91724470	Missense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10	94258	91724470	67414193	42	17104											
GNG11	2791	hgsc.bcm.edu;ucsc.edu	37	7	93551485	93551485	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:93551485G>C	ENST00000248564.5	+	1	475	c.36G>C	c.(34-36)aaG>aaC	p.K12N		NM_004126.3	NP_004117.1	P61952	GBG11_HUMAN	guanine nucleotide binding protein (G protein), gamma 11	12					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TGCCAGAGAAGGAAAAACTGA	0.512																																																0													51	53	53					7																	93551485		2203	4300	6503	SO:0001583	missense	2791				CCDS5634.1	7q31-q32	2008-07-18			ENSG00000127920	ENSG00000127920			4403	protein-coding gene	gene with protein product	"G protein gamma-11 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit"	604390				7665596	Standard	NM_004126		Approved	GNGT11	uc003und.3	P61952	OTTHUMG00000023411	ENST00000248564.5:c.36G>C	7.37:g.93551485G>C	ENSP00000248564:p.Lys12Asn		P50152	Missense_Mutation	SNP	ENST00000248564.5	37	CCDS5634.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858417	0.71834	.	.	ENSG00000127920	ENST00000248564	T	0.27890	1.64	4.48	3.6	0.41247	G-protein gamma domain (5);	0.107103	0.64402	D	0.000009	T	0.48370	0.1496	.	.	.	0.44728	D	0.99772	D	0.89917	1.0	D	0.74348	0.983	T	0.39722	-0.9600	9	0.30854	T	0.27	-18.5867	10.488	0.44733	0.0961:0.0:0.9039:0.0	.	12	P61952	GBG11_HUMAN	N	12	ENSP00000248564:K12N	ENSP00000248564:K12N	K	+	3	2	GNG11	93389421	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.176000	0.50863	1.250000	0.43966	0.491000	0.48974	AAG		0.512	GNG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254719.3	NM_004126		C	93551485	G	C	93551485	3	2	287	1	0	0	0	0	1	0	0	0	6526	991	35	4	38	4	GNG11	7	93551485	Missense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10	1827015	93551485	65587178	43	17105											
EPHB4	2050	hgsc.bcm.edu;ucsc.edu	37	7	100405125	100405125	+	Silent	SNP	G	G	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:100405125G>C	ENST00000358173.3	-	13	2664	c.2196C>G	c.(2194-2196)gcC>gcG	p.A732A	EPHB4_ENST00000360620.3_Silent_p.A732A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	732	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCTCATCTCGGCAAGGTACC	0.592																																					GBM(200;2113 3072 25865 52728)											0													167	127	140					7																	100405125		2203	4300	6503	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2196C>G	7.37:g.100405125G>C			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	CCDS5706.1																																																																																				0.592	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		C	100405125	G	C	100405125	2	2	287	1	0	0	0	0	0	0	0	1	5179	1103	39	4		4	EPHB4	7	100405125	Silent	SNP	G	TCGA-B8-5550-01A-01D-1534-10	6853640	100405125	58733538	44	17106											
IQUB	154865	hgsc.bcm.edu;ucsc.edu	37	7	123143012	123143012	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:123143012A>G	ENST00000466202.1	-	5	1429	c.853T>C	c.(853-855)Tgt>Cgt	p.C285R	IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000434450.1_Missense_Mutation_p.C285R|IQUB_ENST00000324698.6_Missense_Mutation_p.C285R	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	285					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTATCCCTACAAAATATACTG	0.343																																																0													112	110	110					7																	123143012		2203	4300	6503	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.853T>C	7.37:g.123143012A>G	ENSP00000417769:p.Cys285Arg		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728289	0.48833	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.45668	1.92;1.92;0.89	5.45	4.26	0.50523	.	0.184267	0.47852	D	0.000213	T	0.53530	0.1802	M	0.76574	2.34	0.50467	D	0.999879	P;P	0.50272	0.933;0.89	P;P	0.51385	0.668;0.467	T	0.57573	-0.7788	10	0.62326	D	0.03	.	11.9064	0.52715	0.8694:0.0:0.0:0.1306	.	285;285	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	R	285	ENSP00000417769:C285R;ENSP00000324882:C285R;ENSP00000388498:C285R	ENSP00000324882:C285R	C	-	1	0	IQUB	122930248	0.986000	0.35501	1.000000	0.80357	0.773000	0.43773	1.919000	0.40015	0.965000	0.38133	0.533000	0.62120	TGT		0.343	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		G	123143012	A	G	123143012	3	3	287	1	0	0	0	0	1	0	0	0	7822	130	5	3	1558	3	IQUB	7	123143012	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10	22737887	123143012	35995651	45	17107											
KIF13B	23303	hgsc.bcm.edu;ucsc.edu	37	8	28976473	28976473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr8:28976473delG	ENST00000524189.1	-	30	3610	c.3572delC	c.(3571-3573)ccafs	p.P1191fs	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1191					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACCAGCTTCTGGGTCATCAAG	0.438																																																0													134	133	133					8																	28976473		1912	4133	6045	SO:0001589	frameshift_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3572delC	8.37:g.28976473delG	ENSP00000427900:p.Pro1191fs		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Frame_Shift_Del	DEL	ENST00000524189.1	37	CCDS55217.1																																																																																				0.438	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			-	28976473	G	-	28976473	7	5	287	1	0	1	0	1	0	0	0	0	8277	1348	47	0	1952	0	KIF13B	8	28976473	Frame_Shift_Del	DEL	G	TCGA-B8-5550-01A-01D-1534-10		28976473	117387549	46	17108											
RAB2A	5862	hgsc.bcm.edu	37	8	61471447	61471447	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr8:61471447A>T	ENST00000262646.7	+	2	434	c.83A>T	c.(82-84)gAc>gTc	p.D28V	RAB2A_ENST00000529579.1_Missense_Mutation_p.D28V|RAB2A_ENST00000531289.1_Intron	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	28					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			CAGTTTACAGACAAGAGGTTT	0.308																																																0													122	122	122					8																	61471447		2203	4300	6503	SO:0001583	missense	5862				CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"RAB, member RAS oncogene"	9763	protein-coding gene	gene with protein product		179509	"RAB2, member RAS oncogene family"	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.83A>T	8.37:g.61471447A>T	ENSP00000262646:p.Asp28Val		B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	ENST00000262646.7	37	CCDS6175.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600113	0.87055	.	.	ENSG00000104388	ENST00000262646;ENST00000529579	T;T	0.77620	-1.11;-1.11	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.044714	0.85682	D	0.000000	D	0.88797	0.6534	M	0.85099	2.735	0.80722	D	1	D	0.63880	0.993	D	0.68621	0.959	D	0.90428	0.4422	10	0.87932	D	0	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	28	P61019	RAB2A_HUMAN	V	28	ENSP00000262646:D28V;ENSP00000431589:D28V	ENSP00000262646:D28V	D	+	2	0	RAB2A	61634001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.282000	0.76494	0.533000	0.62120	GAC		0.308	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2			T	61471447	A	T	61471447	3	4	287	1	0	0	0	0	1	0	0	0	12923	275	10	5	89	5	RAB2A	8	61471447	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10	32494974	61471447	84892575	47	17109											
FAM91A1	157769	hgsc.bcm.edu;ucsc.edu	37	8	124799957	124799957	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr8:124799957G>C	ENST00000334705.7	+	14	1491	c.1245G>C	c.(1243-1245)gaG>gaC	p.E415D	FAM91A1_ENST00000521166.1_Missense_Mutation_p.E415D	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	415										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TCTCAGATGAGTCTCTGGACA	0.363																																																0													100	94	96					8																	124799957		1846	4100	5946	SO:0001583	missense	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1245G>C	8.37:g.124799957G>C	ENSP00000335082:p.Glu415Asp		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420984	0.83559	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.57107	0.42;0.42	5.57	2.31	0.28768	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.73753	2.245	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.73380	0.98;0.98	T	0.67921	-0.5545	10	0.48119	T	0.1	.	10.6554	0.45671	0.2599:0.0:0.7401:0.0	.	415;415	E7ER68;Q658Y4	.;F91A1_HUMAN	D	415	ENSP00000429491:E415D;ENSP00000335082:E415D	ENSP00000335082:E415D	E	+	3	2	FAM91A1	124869138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.844000	0.39269	0.829000	0.34733	0.655000	0.94253	GAG		0.363	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		C	124799957	G	C	124799957	3	2	287	1	0	0	0	0	1	0	0	0	5653	1020	36	4	1299	4	FAM91A1	8	124799957	Missense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10	63328510	124799957	21564065	48	17110											
KLHL9	55958	hgsc.bcm.edu;ucsc.edu	37	9	21334022	21334022	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr9:21334022C>T	ENST00000359039.4	-	1	1357	c.837G>A	c.(835-837)atG>atA	p.M279I	KLHL9_ENST00000537938.1_Missense_Mutation_p.M211I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	279					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCATATATGGCATCATTTGGT	0.443																																																0													149	135	140					9																	21334022		2203	4300	6503	SO:0001583	missense	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.837G>A	9.37:g.21334022C>T	ENSP00000351933:p.Met279Ile		Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058815	0.36277	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.70631	-0.46;-0.5	5.37	5.37	0.77165	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.73962	2.25	0.58432	D	0.999999	B	0.26635	0.155	B	0.28991	0.097	T	0.72754	-0.4198	10	0.56958	D	0.05	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	279	Q9P2J3	KLHL9_HUMAN	I	279;211	ENSP00000351933:M279I;ENSP00000437733:M211I	ENSP00000351933:M279I	M	-	3	0	KLHL9	21324022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.739000	0.84976	2.688000	0.91661	0.650000	0.86243	ATG		0.443	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		T	21334022	C	T	21334022	3	4	287	1	0	0	0	0	1	0	0	0	8398	710	25	2	1020	2	KLHL9	9	21334022	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10		21334022	119879409	49	17111											
ALDH1A1	216	hgsc.bcm.edu;ucsc.edu	37	9	75545843	75545843	+	Silent	SNP	T	T	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr9:75545843T>C	ENST00000297785.3	-	3	318	c.264A>G	c.(262-264)ctA>ctG	p.L88L	ALDH1A1_ENST00000376939.1_Silent_p.L88L|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	88					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	ACTTGTATAATAGTCGCCCCC	0.498																																																0													101	99	100					9																	75545843		2203	4300	6503	SO:0001819	synonymous_variant	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.264A>G	9.37:g.75545843T>C			O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	CCDS6644.1																																																																																				0.498	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			C	75545843	T	C	75545843	2	2	287	1	0	0	0	0	0	0	0	1	490	1393	49	3		3	ALDH1A1	9	75545843	Silent	SNP	T	TCGA-B8-5550-01A-01D-1534-10	54211821	75545843	65667588	50	17112											
AKNA	80709	hgsc.bcm.edu;ucsc.edu	37	9	117130825	117130825	+	Silent	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr9:117130825T>A	ENST00000307564.4	-	5	1628	c.1467A>T	c.(1465-1467)ggA>ggT	p.G489G	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Silent_p.G489G|AKNA_ENST00000312033.3_Silent_p.G489G|AKNA_ENST00000374075.5_Silent_p.G408G	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	489					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGGCACCATTCCCGTGTGGA	0.662																																																0													87	59	69					9																	117130825		2203	4300	6503	SO:0001819	synonymous_variant	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1467A>T	9.37:g.117130825T>A			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	CCDS6805.1																																																																																				0.662	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		A	117130825	T	A	117130825	2	1	287	1	0	0	0	0	0	0	0	1	463	1770	62	5		5	AKNA	9	117130825	Silent	SNP	T	TCGA-B8-5550-01A-01D-1534-10	41584982	117130825	24082606	51	17113											
C10orf140	387640	hgsc.bcm.edu;ucsc.edu	37	10	21804074	21804074	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr10:21804074G>A	ENST00000449193.2	-	4	4930	c.2678C>T	c.(2677-2679)tCt>tTt	p.S893F	SKIDA1_ENST00000444772.3_Missense_Mutation_p.S814F	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	812						nucleus (GO:0005634)											AGGTATTGCAGAACCGCCCAG	0.403																																																0													41	39	39					10																	21804074		1827	4088	5915	SO:0001583	missense	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2678C>T	10.37:g.21804074G>A	ENSP00000410041:p.Ser893Phe		B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464818	0.43839	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.64	5.64	0.86602	.	0.214543	0.41938	D	0.000796	T	0.66025	0.2748	L	0.29908	0.895	0.43527	D	0.995806	D	0.71674	0.998	P	0.61940	0.896	T	0.68307	-0.5443	9	0.87932	D	0	-0.7813	19.6637	0.95885	0.0:0.0:1.0:0.0	.	893	E9PAX1	.	F	893;814	.	ENSP00000442432:S814F	S	-	2	0	C10orf140	21844080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.818000	0.62657	2.821000	0.97095	0.655000	0.94253	TCT		0.403	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		A	21804074	G	A	21804074	3	1	287	1	0	0	0	0	1	0	0	0	1597	942	33	2	52	2	C10orf140	10	21804074	Missense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10		21804074	113730673	52	17114											
MYOZ1	58529	hgsc.bcm.edu	37	10	75393823	75393823	+	Splice_Site	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr10:75393823C>T	ENST00000359322.4	-	5	867	c.503G>A	c.(502-504)gGa>gAa	p.G168E	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TGCCTGGTCTCCTGGTAGCCA	0.483																																																0													37	35	36					10																	75393823		2203	4300	6503	SO:0001630	splice_region_variant	58529			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"calsarcin-2"	605603	"myozenin"	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.503-1G>A	10.37:g.75393823C>T				Missense_Mutation	SNP	ENST00000359322.4	37	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901370	0.72754	.	.	ENSG00000177791	ENST00000359322	T	0.65364	-0.15	6.17	5.23	0.72850	.	0.210963	0.49916	D	0.000135	T	0.46405	0.1391	L	0.28274	0.84	0.48975	D	0.999734	B	0.29936	0.262	B	0.34931	0.192	T	0.38351	-0.9665	10	0.02654	T	1	.	11.8612	0.52467	0.0:0.8435:0.0:0.1565	.	168	Q9NP98	MYOZ1_HUMAN	E	168	ENSP00000352272:G168E	ENSP00000352272:G168E	G	-	2	0	MYOZ1	75063829	0.987000	0.35691	1.000000	0.80357	0.987000	0.75469	0.929000	0.28844	1.515000	0.48885	0.655000	0.94253	GGA		0.483	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1		Missense_Mutation	T	75393823	C	T	75393823	5	4	287	1	0	0	0	0	0	0	1	0	10097	869	30	2	404	2	MYOZ1	10	75393823	Splice_Site	SNP	C	TCGA-B8-5550-01A-01D-1534-10	53589749	75393823	60140924	53	17115											
IFIT1	3434	hgsc.bcm.edu;ucsc.edu	37	10	91162803	91162803	+	Silent	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr10:91162803A>T	ENST00000371804.3	+	2	938	c.771A>T	c.(769-771)gcA>gcT	p.A257A	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Silent_p.A226A	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	257	Interaction with the 5'-triphosphate group of PPP-RNA. {ECO:0000250}.				cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TTCGATATGCAGCCAAGTTTT	0.443																																																0													117	119	119					10																	91162803		2203	4300	6503	SO:0001819	synonymous_variant	3434			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"Tetratricopeptide (TTC) repeat domain containing"	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.771A>T	10.37:g.91162803A>T			B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	CCDS31243.1																																																																																				0.443	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		T	91162803	A	T	91162803	2	4	287	1	0	0	0	0	0	0	0	1	7523	175	7	5		5	IFIT1	10	91162803	Silent	SNP	A	TCGA-B8-5550-01A-01D-1534-10	15768980	91162803	44371944	54	17116											
MRGPRX3	117195	hgsc.bcm.edu;ucsc.edu	37	11	18159153	18159153	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:18159153C>T	ENST00000396275.2	+	3	765	c.404C>T	c.(403-405)cCc>cTc	p.P135L		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGCCGCCGCCCCAGATACCTG	0.572																																																0													122	113	116					11																	18159153		2200	4293	6493	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.404C>T	11.37:g.18159153C>T	ENSP00000379571:p.Pro135Leu		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398478	0.25205	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.37235	1.21;1.21	1.46	0.423	0.16463	GPCR, rhodopsin-like superfamily (1);	0.090132	0.49305	D	0.000158	T	0.56731	0.2005	M	0.90425	3.115	0.09310	N	1	D	0.63880	0.993	D	0.63381	0.914	T	0.48747	-0.9008	10	0.66056	D	0.02	.	6.5979	0.22685	0.2851:0.7148:0.0:0.0	.	135	Q96LB0	MRGX3_HUMAN	L	135	ENSP00000379571:P135L;ENSP00000436242:P135L	ENSP00000379571:P135L	P	+	2	0	MRGPRX3	18115729	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.160000	0.31761	0.136000	0.18733	-0.719000	0.03609	CCC		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		T	18159153	C	T	18159153	3	4	287	1	0	0	0	0	1	0	0	0	9770	623	22	2	406	2	MRGPRX3	11	18159153	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10		18159153	116847363	55	17117											
OR8I2	120586	hgsc.bcm.edu	37	11	55860880	55860880	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:55860880T>G	ENST00000302124.2	+	1	128	c.97T>G	c.(97-99)Ttc>Gtc	p.F33V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GATGTTTCTCTTCATTTATCT	0.398																																																0													200	194	196					11																	55860880		2201	4296	6497	SO:0001583	missense	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.97T>G	11.37:g.55860880T>G	ENSP00000303864:p.Phe33Val		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.766108	0.00082	.	.	ENSG00000172154	ENST00000302124	T	0.00420	7.47	4.5	2.06	0.26882	.	0.000000	0.42053	U	0.000776	T	0.00178	0.0005	N	0.05441	-0.05	0.09310	N	1	B	0.22346	0.068	B	0.20767	0.031	T	0.27905	-1.0060	10	0.16896	T	0.51	-20.6827	4.8832	0.13690	0.0:0.1785:0.16:0.6615	.	33	Q8N0Y5	OR8I2_HUMAN	V	33	ENSP00000303864:F33V	ENSP00000303864:F33V	F	+	1	0	OR8I2	55617456	0.000000	0.05858	0.018000	0.16275	0.009000	0.06853	-3.722000	0.00383	0.196000	0.20367	0.362000	0.22060	TTC		0.398	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		G	55860880	T	G	55860880	3	3	287	1	0	0	0	0	1	0	0	0	11242	1609	56	5	99	5	OR8I2	11	55860880	Missense_Mutation	SNP	T	TCGA-B8-5550-01A-01D-1534-10	37701727	55860880	79145636	56	17118											
DAK	26007	hgsc.bcm.edu;ucsc.edu	37	11	61113379	61113379	+	Silent	SNP	A	A	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:61113379A>G	ENST00000394900.3	+	17	1765	c.1536A>G	c.(1534-1536)ccA>ccG	p.P512P	CYB561A3_ENST00000540317.1_5'Flank	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	512	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GGAAGAGCCCAGGAGCTGATC	0.617																																																0													62	63	63					11																	61113379		2203	4299	6502	SO:0001819	synonymous_variant	26007				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1536A>G	11.37:g.61113379A>G			Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	ENST00000394900.3	37	CCDS8003.1																																																																																				0.617	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		G	61113379	A	G	61113379	2	3	287	1	0	0	0	0	0	0	0	1	4230	175	7	3		3	DAK	11	61113379	Silent	SNP	A	TCGA-B8-5550-01A-01D-1534-10	5252499	61113379	73893137	57	17119											
USP35	57558	hgsc.bcm.edu;ucsc.edu	37	11	77921086	77921086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:77921086C>T	ENST00000529308.1	+	10	2446	c.2185C>T	c.(2185-2187)Cag>Tag	p.Q729*	USP35_ENST00000530267.1_Nonsense_Mutation_p.Q297*|USP35_ENST00000441408.2_Nonsense_Mutation_p.Q315*|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Nonsense_Mutation_p.Q460*	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	729	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ggaggctgagcaggaaaagga	0.612																																																0													72	94	87					11																	77921086		2079	4214	6293	SO:0001587	stop_gained	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2185C>T	11.37:g.77921086C>T	ENSP00000431876:p.Gln729*			Nonsense_Mutation	SNP	ENST00000529308.1	37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	39	7.396993	0.98258	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	.	.	.	4.69	-4.58	0.03410	.	3.904850	0.00873	N	0.002042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2388	7.5044	0.27536	0.2727:0.5562:0.1711:0.0	.	.	.	.	X	297;729;315;460	.	ENSP00000400825:Q315X	Q	+	1	0	USP35	77598734	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.752000	0.04797	-1.143000	0.02866	-0.582000	0.04134	CAG		0.612	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		T	77921086	C	T	77921086	4	4	287	1	0	0	0	0	0	1	0	0	17071	711	25	2	2219	2	USP35	11	77921086	Nonsense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	16807707	77921086	57085430	58	17120											
SCN3B	55800	hgsc.bcm.edu	37	11	123513374	123513374	+	Silent	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:123513374G>A	ENST00000392770.2	-	3	1027	c.225C>T	c.(223-225)taC>taT	p.Y75Y	SCN3B_ENST00000299333.3_Silent_p.Y75Y|SCN3B_ENST00000530277.1_Silent_p.Y75Y	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	75	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCGATACTCGTAAATCTGCA	0.577																																																0													30	31	31					11																	123513374		2202	4299	6501	SO:0001819	synonymous_variant	55800			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.225C>T	11.37:g.123513374G>A			A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	CCDS8442.1																																																																																				0.577	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		A	123513374	G	A	123513374	2	1	287	1	0	0	0	0	0	0	0	1	13925	1140	40	1		1	SCN3B	11	123513374	Silent	SNP	G	TCGA-B8-5550-01A-01D-1534-10	45592288	123513374	11493142	59	17121											
HEPACAM	641654	hgsc.bcm.edu;ucsc.edu	37	11	124792312	124792312	+	IGR	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:124792312G>A	ENST00000408930.5	+	0	1428				HEPACAM_ENST00000298251.4_Missense_Mutation_p.P307L	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1							cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GAGTGCCATGGGGTTCTTCCG	0.612																																																0													188	178	181					11																	124792312		2201	4299	6500	SO:0001628	intergenic_variant	220296			BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"cancer susceptibility gene HEPN1"	611641	"HEPACAM opposite strand 1"			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939		11.37:g.124792312G>A				Missense_Mutation	SNP	ENST00000408930.5	37	CCDS41729.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710723	0.89112	.	.	ENSG00000165478	ENST00000298251	T	0.57273	0.41	5.8	5.8	0.92144	.	0.150661	0.64402	D	0.000011	T	0.61912	0.2385	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	P	0.59643	0.861	T	0.63906	-0.6531	10	0.87932	D	0	-33.4809	19.6581	0.95851	0.0:0.0:1.0:0.0	.	307	Q14CZ8	HECAM_HUMAN	L	307	ENSP00000298251:P307L	ENSP00000298251:P307L	P	-	2	0	HEPACAM	124297522	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.432000	0.80349	2.735000	0.93741	0.655000	0.94253	CCC		0.612	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1	NM_001037558		A	124792312	G	A	124792312	1	1	287	0	1	0	0	0	0	0	0	0	7054	1232	43	2		2	HEPACAM	11	124792312	IGR	SNP	G	TCGA-B8-5550-01A-01D-1534-10	1278938	124792312	10214204	60	17122											
SLC2A3	6515	hgsc.bcm.edu	37	12	8075533	8075533	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:8075533A>C	ENST00000075120.7	-	9	1396	c.1156T>G	c.(1156-1158)Tgg>Ggg	p.W386G		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	386					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ACAATAAACCAGGGAATGGGG	0.532																																					Colon(96;424 1461 14416 20933 23688)											0													36	39	38					12																	8075533		2203	4300	6503	SO:0001583	missense	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1156T>G	12.37:g.8075533A>C	ENSP00000075120:p.Trp386Gly		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054880	0.75960	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.76968	-1.06	4.34	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88296	0.2946	10	0.48119	T	0.1	.	11.788	0.52053	1.0:0.0:0.0:0.0	.	386	P11169	GTR3_HUMAN	G	386;312	ENSP00000075120:W386G	ENSP00000075120:W386G	W	-	1	0	SLC2A3	7966800	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.281000	0.89905	1.943000	0.56356	0.533000	0.62120	TGG		0.532	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		C	8075533	A	C	8075533	3	2	287	1	0	0	0	0	1	0	0	0	14551	188	7	5	342	5	SLC2A3	12	8075533	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10		8075533	125776362	61	17123											
PZP	5858	hgsc.bcm.edu	37	12	9317897	9317897	+	Silent	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:9317897G>A	ENST00000261336.2	-	19	2353	c.2325C>T	c.(2323-2325)gcC>gcT	p.A775A	PZP_ENST00000381997.2_Silent_p.A644A|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	775					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAGGCAGAAGGCCCCTGCCT	0.542																																					Melanoma(125;1402 1695 4685 34487 38571)											0													90	77	81					12																	9317897		2203	4300	6503	SO:0001819	synonymous_variant	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2325C>T	12.37:g.9317897G>A			A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.542	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		A	9317897	G	A	9317897	2	1	287	1	0	0	0	0	0	0	0	1	12875	987	35	2		2	PZP	12	9317897	Silent	SNP	G	TCGA-B8-5550-01A-01D-1534-10	1242364	9317897	124533998	62	17124											
MANSC1	54682	hgsc.bcm.edu;ucsc.edu	37	12	12483181	12483181	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:12483181C>T	ENST00000535902.1	-	4	1639	c.1076G>A	c.(1075-1077)gGt>gAt	p.G359D	MANSC1_ENST00000396349.3_Missense_Mutation_p.G325D|MANSC1_ENST00000545735.1_Missense_Mutation_p.G278D			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	359						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GGCCTCCCTACCTTCCCAGGA	0.468																																																0													91	92	92					12																	12483181		2203	4300	6503	SO:0001583	missense	54682			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.1076G>A	12.37:g.12483181C>T	ENSP00000438205:p.Gly359Asp		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540325	0.13250	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.20881	2.36;2.35;2.04	5.02	-5.51	0.02568	.	1.452060	0.04765	N	0.426970	T	0.04363	0.0120	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33163	-0.9879	10	0.06757	T	0.87	-2.7726	2.0261	0.03519	0.2627:0.0906:0.4005:0.2461	.	293;325;359	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	D	359;325;278;278	ENSP00000438205:G359D;ENSP00000379638:G325D;ENSP00000445303:G278D	ENSP00000347765:G278D	G	-	2	0	MANSC1	12374448	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	-0.375000	0.07955	-0.339000	0.08088	GGT		0.468	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		T	12483181	C	T	12483181	3	4	287	1	0	0	0	0	1	0	0	0	9226	507	18	2	223	2	MANSC1	12	12483181	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	3165284	12483181	121368714	63	17125											
PRIM1	5557	hgsc.bcm.edu;ucsc.edu	37	12	57137871	57137871	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:57137871C>T	ENST00000338193.6	-	6	652	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	PRIM1_ENST00000552408.1_5'Flank	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	206					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TGAATTTTTTCACTTAGGTGA	0.353																																																0													78	72	74					12																	57137871		1813	4067	5880	SO:0001583	missense	5557			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.616G>A	12.37:g.57137871C>T	ENSP00000350491:p.Glu206Lys			Missense_Mutation	SNP	ENST00000338193.6	37	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253674	0.80135	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	T;T	0.41400	1.01;1.0	5.09	5.09	0.68999	.	0.049145	0.85682	D	0.000000	T	0.29882	0.0747	N	0.21282	0.65	0.49389	D	0.999782	B	0.14438	0.01	B	0.23018	0.043	T	0.09596	-1.0667	10	0.06625	T	0.88	-27.6743	18.2069	0.89858	0.0:1.0:0.0:0.0	.	206	P49642	PRI1_HUMAN	K	207;206;209	ENSP00000350491:E206K;ENSP00000450185:E209K	ENSP00000350491:E206K	E	-	1	0	PRIM1	55424138	0.995000	0.38212	1.000000	0.80357	0.984000	0.73092	2.879000	0.48522	2.773000	0.95371	0.650000	0.86243	GAA		0.353	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946		T	57137871	C	T	57137871	3	4	287	1	0	0	0	0	1	0	0	0	12495	835	29	2	678	2	PRIM1	12	57137871	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	44654690	57137871	76714024	64	17126											
CAPS2	84698	hgsc.bcm.edu;ucsc.edu	37	12	75716783	75716783	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:75716783G>A	ENST00000409445.3	-	5	515	c.319C>T	c.(319-321)Cca>Tca	p.P107S	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000409799.1_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	107							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TGAGTATATGGAGTTTGACAT	0.279																																																0													35	32	33					12																	75716783		692	1588	2280	SO:0001583	missense	84698			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.319C>T	12.37:g.75716783G>A	ENSP00000386959:p.Pro107Ser		Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	G	2.164	-0.391494	0.04932	.	.	ENSG00000180881	ENST00000409445	T	0.53857	0.6	4.75	0.448	0.16614	.	0.536026	0.16955	N	0.192729	T	0.29976	0.0750	N	0.16656	0.425	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.12218	-1.0556	10	0.40728	T	0.16	-0.2773	4.9691	0.14105	0.2715:0.0:0.5838:0.1447	.	107	Q9BXY5	CAYP2_HUMAN	S	107	ENSP00000386959:P107S	ENSP00000386959:P107S	P	-	1	0	CAPS2	74003050	0.004000	0.15560	0.000000	0.03702	0.008000	0.06430	0.559000	0.23485	-0.008000	0.14320	-0.268000	0.10319	CCA		0.279	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			A	75716783	G	A	75716783	3	1	287	1	0	0	0	0	1	0	0	0	2640	1174	41	2	1410	2	CAPS2	12	75716783	Missense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10	18578912	75716783	58135112	65	17127											
APPL2	55198	hgsc.bcm.edu;ucsc.edu	37	12	105582070	105582070	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:105582070C>G	ENST00000258530.3	-	17	1840	c.1615G>C	c.(1615-1617)Gtc>Ctc	p.V539L	APPL2_ENST00000551662.1_Missense_Mutation_p.V545L|APPL2_ENST00000539978.2_Missense_Mutation_p.V496L	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGACTGGTGACCATCAGATGG	0.413																																																0													152	133	140					12																	105582070		2203	4300	6503	SO:0001583	missense	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1615G>C	12.37:g.105582070C>G	ENSP00000258530:p.Val539Leu		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907210	0.52333	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.36	4.47	0.54385	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.057421	0.64402	D	0.000002	T	0.27489	0.0675	M	0.62723	1.935	0.51767	D	0.999936	P;P;P	0.46395	0.877;0.838;0.597	B;B;B	0.38954	0.286;0.256;0.216	T	0.07927	-1.0747	10	0.48119	T	0.1	-17.6301	14.1216	0.65192	0.0:0.9273:0.0:0.0727	.	545;496;539	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	L	539;496;545;70	ENSP00000258530:V539L;ENSP00000444472:V496L;ENSP00000446917:V545L;ENSP00000446510:V70L	ENSP00000258530:V539L	V	-	1	0	APPL2	104106200	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.053000	0.57427	1.251000	0.43983	0.643000	0.83706	GTC		0.413	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		G	105582070	C	G	105582070	3	3	287	1	0	0	0	0	1	0	0	0	818	507	18	4	399	4	APPL2	12	105582070	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	29865287	105582070	28269825	66	17128											
FBXL3	26224	hgsc.bcm.edu;ucsc.edu	37	13	77595752	77595752	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr13:77595752C>G	ENST00000355619.5	-	2	568	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	FBXL3_ENST00000477982.1_5'Flank	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	82					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TGATTCAGTTCAAATTCAAAA	0.398																																																0													80	76	77					13																	77595752		2203	4300	6503	SO:0001583	missense	26224			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"F-boxes / Leucine-rich repeats"	13599	protein-coding gene	gene with protein product		605653	"F-box and leucine-rich repeat protein 3A"	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.244G>C	13.37:g.77595752C>G	ENSP00000347834:p.Glu82Gln		B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949229	0.92660	.	.	ENSG00000005812	ENST00000355619	T	0.21191	2.02	5.87	5.87	0.94306	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	M	0.64997	1.995	0.80722	D	1	P	0.51791	0.948	P	0.49528	0.614	T	0.01030	-1.1475	10	0.27785	T	0.31	-20.6918	20.1935	0.98237	0.0:1.0:0.0:0.0	.	82	Q9UKT7	FBXL3_HUMAN	Q	82	ENSP00000347834:E82Q	ENSP00000347834:E82Q	E	-	1	0	FBXL3	76493753	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.779000	0.95612	0.591000	0.81541	GAA		0.398	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			G	77595752	C	G	77595752	3	3	287	1	0	0	0	0	1	0	0	0	5722	835	29	4	1058	4	FBXL3	13	77595752	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10		77595752	37574126	67	17129											
LTBP2	4053	hgsc.bcm.edu	37	14	75052560	75052560	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr14:75052560G>A	ENST00000261978.4	-	3	1213	c.827C>T	c.(826-828)gCt>gTt	p.A276V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A276V|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	276					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACTTACCCAGCTGGTGGCGA	0.637																																																0													45	58	54					14																	75052560		2203	4300	6503	SO:0001583	missense	4053				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.827C>T	14.37:g.75052560G>A	ENSP00000261978:p.Ala276Val		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	5.817	0.335036	0.11013	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.77358	-1.08;-1.09	5.41	3.56	0.40772	.	.	.	.	.	T	0.56863	0.2014	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.38866	-0.9641	9	0.17369	T	0.5	.	10.4562	0.44553	0.1562:0.0:0.8438:0.0	.	276	Q14767	LTBP2_HUMAN	V	276	ENSP00000261978:A276V;ENSP00000451477:A276V	ENSP00000261978:A276V	A	-	2	0	LTBP2	74122313	0.992000	0.36948	0.006000	0.13384	0.067000	0.16453	5.030000	0.64128	1.274000	0.44362	0.563000	0.77884	GCT		0.637	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		A	75052560	G	A	75052560	3	1	287	1	0	0	0	0	1	0	0	0	9076	971	34	2	4774	2	LTBP2	14	75052560	Missense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10		75052560	32296980	68	17130											
TTC7B	145567	hgsc.bcm.edu;ucsc.edu	37	14	91155923	91155923	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr14:91155923T>G	ENST00000328459.6	-	7	1032	c.911A>C	c.(910-912)tAc>tCc	p.Y304S	TTC7B_ENST00000357056.2_Missense_Mutation_p.Y304S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	304										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGTGAGAGTGTAGGTTTTTGT	0.512																																																0													132	107	116					14																	91155923		2203	4300	6503	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.911A>C	14.37:g.91155923T>G	ENSP00000336127:p.Tyr304Ser		Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634112	0.47049	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	T;T	0.38240	1.82;1.15	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	N	0.11106	0.095	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.20571	-1.0271	10	0.08599	T	0.76	-5.9482	15.8282	0.78730	0.0:0.0:0.0:1.0	.	304	Q86TV6	TTC7B_HUMAN	S	202;304;304;46	ENSP00000349564:Y304S;ENSP00000336127:Y304S	ENSP00000336127:Y304S	Y	-	2	0	TTC7B	90225676	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.673000	0.83973	2.210000	0.71456	0.533000	0.62120	TAC		0.512	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			G	91155923	T	G	91155923	3	3	287	1	0	0	0	0	1	0	0	0	16718	1638	57	5	1676	5	TTC7B	14	91155923	Missense_Mutation	SNP	T	TCGA-B8-5550-01A-01D-1534-10	16103363	91155923	16193617	69	17131											
SERINC4	619189	hgsc.bcm.edu;ucsc.edu	37	15	44087392	44087392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr15:44087392C>A	ENST00000319327.6	-	12	1597	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	SERF2_ENST00000409291.1_Intron|SERF2_ENST00000594896.1_Intron|HYPK_ENST00000406925.1_5'Flank|SERINC4_ENST00000249714.3_Nonsense_Mutation_p.E211*|MIR1282_ENST00000408865.1_RNA|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000299969.6_Missense_Mutation_p.W380C	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	455					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		AAGGTCTTTTCCAGTTCTGCT	0.502																																																0													70	64	66					15																	44087392		2198	4298	6496	SO:0001587	stop_gained	619189			DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1363G>T	15.37:g.44087392C>A	ENSP00000319796:p.Glu455*		B2RN41|Q3YL75	Nonsense_Mutation	SNP	ENST00000319327.6	37	CCDS58360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.508201|9.508201	0.99190|0.99190	.|.	.|.	ENSG00000184716|ENSG00000184716	ENST00000319327;ENST00000249714|ENST00000299969	.|T	.|0.31247	.|1.5	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.054171|.	0.64402|.	D|.	0.000001|.	.|T	.|0.58779	.|0.2146	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.54268	.|-0.8319	.|8	0.49607|0.41790	T|T	0.09|0.15	-12.3991|-12.3991	20.0966|20.0966	0.97849|0.97849	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|380	.|A6NM42	.|.	X|C	455;211|380	.|ENSP00000299969:W380C	ENSP00000249714:E211X|ENSP00000299969:W380C	E|W	-|-	1|3	0|0	SERINC4|SERINC4	41874684|41874684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.794000|7.794000	0.85869|0.85869	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	GAA|TGG		0.502	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2			A	44087392	C	A	44087392	4	1	287	1	0	0	0	0	0	1	0	0	14088	864	30	4	197	4	SERINC4	15	44087392	Nonsense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10		44087392	58444000	70	17132											
WFIKKN1	117166	hgsc.bcm.edu	37	16	681423	681423	+	Splice_Site	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr16:681423A>T	ENST00000319070.2	+	1	492	c.170A>T	c.(169-171)cAg>cTg	p.Q57L		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	57	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				AGCAGGGACCAGGTGAGTGTG	0.697																																																0													32	30	30					16																	681423		2198	4295	6493	SO:0001630	splice_region_variant	117166			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.171+1A>T	16.37:g.681423A>T			Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	ENST00000319070.2	37	CCDS10414.1	.	.	.	.	.	.	.	.	.	.	a	15.19	2.758619	0.49468	.	.	ENSG00000127578	ENST00000319070	T	0.71461	-0.57	4.63	4.63	0.57726	Whey acidic protein, 4-disulphide core (5);	0.146393	0.46145	D	0.000302	T	0.75140	0.3809	L	0.41632	1.29	0.52099	D	0.999947	D	0.61697	0.99	P	0.62491	0.903	T	0.75880	-0.3161	10	0.46703	T	0.11	.	13.4043	0.60903	1.0:0.0:0.0:0.0	.	57	Q96NZ8	WFKN1_HUMAN	L	57	ENSP00000324763:Q57L	ENSP00000324763:Q57L	Q	+	2	0	WFIKKN1	621424	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	2.249000	0.43169	1.959000	0.56917	0.450000	0.29827	CAG		0.697	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2	NM_053284	Missense_Mutation	T	681423	A	T	681423	5	4	287	1	0	0	0	0	0	0	1	0	17363	202	7	5	172	5	WFIKKN1	16	681423	Splice_Site	SNP	A	TCGA-B8-5550-01A-01D-1534-10		681423	89673330	71	17133											
CMTM2	146225	hgsc.bcm.edu;ucsc.edu	37	16	66621879	66621879	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr16:66621879C>A	ENST00000268595.2	+	4	755	c.604C>A	c.(604-606)Cac>Aac	p.H202N	CMTM2_ENST00000379486.2_Missense_Mutation_p.H149N	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	202	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TCAAAGAAACCACTTCAGAGG	0.483																																																0													124	139	134					16																	66621879		2201	4300	6501	SO:0001583	missense	146225			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"chemokine-like factor super family 2", "chemokine-like factor superfamily 2"	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.604C>A	16.37:g.66621879C>A	ENSP00000268595:p.His202Asn		Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	C	5.073	0.199169	0.09652	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.48836	0.8;1.43	3.99	1.94	0.25998	Marvel (1);	0.144833	0.32533	N	0.005961	T	0.25938	0.0632	N	0.12961	0.28	0.09310	N	1	B;B	0.16802	0.019;0.01	B;B	0.16289	0.015;0.015	T	0.16837	-1.0389	10	0.20046	T	0.44	.	8.8719	0.35320	0.1656:0.6759:0.1585:0.0	.	149;202	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	N	149;202	ENSP00000368800:H149N;ENSP00000268595:H202N	ENSP00000268595:H202N	H	+	1	0	CMTM2	65179380	0.837000	0.29446	0.033000	0.17914	0.013000	0.08279	0.524000	0.22940	0.232000	0.21100	-1.367000	0.01198	CAC		0.483	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			A	66621879	C	A	66621879	3	1	287	1	0	0	0	0	1	0	0	0	3585	594	21	4	618	4	CMTM2	16	66621879	Missense_Mutation	SNP	C	TCGA-B8-5550-01A-01D-1534-10	65940456	66621879	23732874	72	17134											
GLG1	2734	hgsc.bcm.edu;ucsc.edu	37	16	74506300	74506300	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr16:74506300delT	ENST00000422840.2	-	14	2061	c.2062delA	c.(2062-2064)atafs	p.I688fs	GLG1_ENST00000205061.5_Frame_Shift_Del_p.I688fs|GLG1_ENST00000447066.2_Frame_Shift_Del_p.I677fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	688					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AAGGCTTCTATTTGAATATCC	0.388																																																0													79	76	77					16																	74506300		2198	4300	6498	SO:0001589	frameshift_variant	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2062delA	16.37:g.74506300delT	ENSP00000405984:p.Ile688fs		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Del	DEL	ENST00000422840.2	37	CCDS45527.1																																																																																				0.388	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		-	74506300	T	-	74506300	7	5	287	1	0	1	0	1	0	0	0	0	6438	1493	52	0	1609	0	GLG1	16	74506300	Frame_Shift_Del	DEL	T	TCGA-B8-5550-01A-01D-1534-10	7884421	74506300	15848453	73	17135											
HNF1B	6928	hgsc.bcm.edu	37	17	36104840	36104840	+	Silent	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr17:36104840G>T	ENST00000225893.4	-	1	397	c.36C>A	c.(34-36)ctC>ctA	p.L12L	RP11-115K3.1_ENST00000558143.1_RNA|HNF1B_ENST00000560016.1_Silent_p.L12L|HNF1B_ENST00000427275.2_Silent_p.L12L|HNF1B_ENST00000561193.1_Silent_p.L12L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	12	Dimerization. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGGCGCTCAGGAGTTCTTGCT	0.627																																					Colon(71;102 1179 9001 27917 43397)											0													40	42	41					17																	36104840		2203	4300	6503	SO:0001819	synonymous_variant	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.36C>A	17.37:g.36104840G>T			B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	37	CCDS11324.1																																																																																				0.627	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		T	36104840	G	T	36104840	2	4	287	1	0	0	0	0	0	0	0	1	7254	1161	41	4		4	HNF1B	17	36104840	Silent	SNP	G	TCGA-B8-5550-01A-01D-1534-10		36104840	45090370	74	17136											
GPR179	440435	hgsc.bcm.edu;ucsc.edu	37	17	36495345	36495345	+	Silent	SNP	T	T	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr17:36495345T>G	ENST00000342292.4	-	2	878	c.858A>C	c.(856-858)ccA>ccC	p.P286P		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	286					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGTACCAGCCTGGGCCACTTG	0.552																																																0													116	118	118					17																	36495345		2131	4222	6353	SO:0001819	synonymous_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.858A>C	17.37:g.36495345T>G				Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																				0.552	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			G	36495345	T	G	36495345	2	3	287	1	0	0	0	0	0	0	0	1	6676	1567	55	5		5	GPR179	17	36495345	Silent	SNP	T	TCGA-B8-5550-01A-01D-1534-10	390505	36495345	44699865	75	17137											
GNA13	10672	hgsc.bcm.edu;ucsc.edu	37	17	63010742	63010742	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr17:63010742A>T	ENST00000439174.2	-	4	1012	c.767T>A	c.(766-768)cTt>cAt	p.L256H	GNA13_ENST00000541118.1_Missense_Mutation_p.L161H	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	256					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						ATCTTCCATAAGCACCTGGTC	0.408																																																0													111	102	105					17																	63010742		2203	4300	6503	SO:0001583	missense	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.767T>A	17.37:g.63010742A>T	ENSP00000400717:p.Leu256His		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595345	0.86953	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.92099	-2.97;-2.97	6.14	6.14	0.99180	.	0.068257	0.64402	D	0.000003	D	0.97645	0.9228	H	0.97540	4.025	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98936	1.0789	10	0.87932	D	0	.	16.4674	0.84083	1.0:0.0:0.0:0.0	.	256	Q14344	GNA13_HUMAN	H	256;161;231	ENSP00000400717:L256H;ENSP00000439647:L161H	ENSP00000239138:L231H	L	-	2	0	GNA13	60441204	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.339000	0.96797	2.367000	0.80283	0.529000	0.55759	CTT		0.408	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		T	63010742	A	T	63010742	3	4	287	1	0	0	0	0	1	0	0	0	6503	72	3	5	370	5	GNA13	17	63010742	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10	26515397	63010742	18184468	76	17138											
PRPSAP1	5635	hgsc.bcm.edu;ucsc.edu	37	17	74308958	74308958	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr17:74308958A>G	ENST00000446526.3	-	9	1437	c.992T>C	c.(991-993)gTa>gCa	p.V331A	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.V228A	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	302					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GACCTCGTCTACGGAGGACTC	0.468																																																0													70	75	74					17																	74308958		2203	4300	6503	SO:0001583	missense	5635			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.992T>C	17.37:g.74308958A>G	ENSP00000414624:p.Val331Ala		B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520987	0.44866	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	T;T;T	0.73789	-0.78;-0.78;-0.78	5.83	5.83	0.93111	.	0.099297	0.64402	D	0.000003	T	0.61702	0.2368	N	0.11724	0.165	0.36926	D	0.891622	B;B	0.27594	0.007;0.182	B;B	0.28991	0.005;0.097	T	0.67624	-0.5623	10	0.87932	D	0	.	16.1968	0.82036	1.0:0.0:0.0:0.0	.	302;331	Q14558;Q14558-2	KPRA_HUMAN;.	A	331;228;228	ENSP00000414624:V331A;ENSP00000314973:V228A;ENSP00000392838:V228A	ENSP00000314973:V228A	V	-	2	0	PRPSAP1	71820553	1.000000	0.71417	0.299000	0.25016	0.053000	0.15095	9.339000	0.96797	2.225000	0.72522	0.533000	0.62120	GTA		0.468	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		G	74308958	A	G	74308958	3	3	287	1	0	0	0	0	1	0	0	0	12586	391	14	3	173	3	PRPSAP1	17	74308958	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10	11298216	74308958	6886252	77	17139											
ZNF519	162655	hgsc.bcm.edu	37	18	14105246	14105249	+	Missense_Mutation	ONP	GTGT	GTGT	AGAC	rs149803578|rs145735313|rs144389001|rs148982947	byFrequency	TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G|T|G|T	G|T|G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr18:14105246_14105249GTGT>AGAC	ENST00000590202.1	-	3	1442_1445	c.1290_1293ACAC>GTCT	c.(1288-1293)aaACAC>aaGTCT	p.H431S	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	431					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TACATTTGAAGTGTTTCTCTCCAG	0.402																																																0																																										SO:0001583	missense	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1290_1293ACAC>GTCT	18.37:g.14105246GTGT>AGAC	ENSP00000464872:p.His431Ser			Silent|Missense_Mutation|Missense_Mutation|Silent	SNP	ENST00000590202.1	37	CCDS32797.1																																																																																				0.402	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		AGAC	14105249	GTGT	AGAC	14105246	3	1	287	1	0	0	0	0	1	0	0	0	17969	1020	36	2	333	2	ZNF519	18	14105246	Missense_Mutation	ONP	GTGT	TCGA-B8-5550-01A-01D-1534-10		14105246	63972002	78	17140											
FAM59A	64762	hgsc.bcm.edu;ucsc.edu	37	18	29867671	29867671	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr18:29867671A>T	ENST00000269209.6	-	4	892	c.889T>A	c.(889-891)Ttt>Att	p.F297I	GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Missense_Mutation_p.F297I|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	297	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TGCAAAGGAAAGTGCATGGGG	0.547																																																0													119	99	106					18																	29867671		2203	4300	6503	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.889T>A	18.37:g.29867671A>T	ENSP00000269209:p.Phe297Ile		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736248	0.89482	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.10099	2.91;2.91	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.03662	-1.1015	10	0.72032	D	0.01	-27.2895	16.1512	0.81624	1.0:0.0:0.0:0.0	.	297;297	Q9H706;Q9H706-3	FA59A_HUMAN;.	I	297	ENSP00000382165:F297I;ENSP00000269209:F297I	ENSP00000269209:F297I	F	-	1	0	FAM59A	28121669	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.851000	0.92205	2.275000	0.75901	0.459000	0.35465	TTT		0.547	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		T	29867671	A	T	29867671	3	4	287	1	0	0	0	0	1	0	0	0	5594	72	3	5	1750	5	FAM59A	18	29867671	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10	15762425	29867671	48209577	79	17141											
COL5A3	50509	hgsc.bcm.edu;ucsc.edu	37	19	10080071	10080072	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr19:10080071_10080072insGT	ENST00000264828.3	-	57	4190_4191	c.4105_4106insAC	c.(4105-4107)ccafs	p.P1369fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1369	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGGAGGCCTGGTTCACCCTGA	0.629																																																0																																										SO:0001589	frameshift_variant	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4104_4105dupAC	19.37:g.10080072_10080073dupGT	ENSP00000264828:p.Pro1369fs		Q9NZQ6	Frame_Shift_Ins	INS	ENST00000264828.3	37	CCDS12222.1																																																																																				0.629	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		GT	10080072	-	GT	10080071	7	5	287	1	0	1	1	0	0	0	0	0	3700	1348	47	0	1175	0	COL5A3	19	10080071	Frame_Shift_Ins	INS	-	TCGA-B8-5550-01A-01D-1534-10		10080071	49048912	80	17142											
NOTCH3	4854	hgsc.bcm.edu	37	19	15289963	15289963	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr19:15289963G>T	ENST00000263388.2	-	22	3666	c.3591C>A	c.(3589-3591)taC>taA	p.Y1197*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1197	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCAAACCAGTGTATCCTGGGG	0.672																																																0													37	40	39					19																	15289963		2203	4298	6501	SO:0001587	stop_gained	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3591C>A	19.37:g.15289963G>T	ENSP00000263388:p.Tyr1197*		Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	42	9.400215	0.99159	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	3.9	1.74	0.24563	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	7.5877	0.28002	0.296:0.0:0.704:0.0	.	.	.	.	X	1197;1147	.	ENSP00000263388:Y1197X	Y	-	3	2	NOTCH3	15150963	1.000000	0.71417	0.676000	0.29932	0.936000	0.57629	2.505000	0.45424	0.175000	0.19841	-0.215000	0.12644	TAC		0.672	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		T	15289963	G	T	15289963	4	4	287	1	0	0	0	0	0	1	0	0	10552	1372	48	4	3422	4	NOTCH3	19	15289963	Nonsense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10	5209892	15289963	43839020	81	17143											
PLD3	23646	hgsc.bcm.edu;ucsc.edu	37	19	40876046	40876046	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr19:40876046A>T	ENST00000409587.1	+	8	977	c.580A>T	c.(580-582)Aag>Tag	p.K194*	PLD3_ENST00000409419.1_Nonsense_Mutation_p.K194*|PLD3_ENST00000356508.5_Nonsense_Mutation_p.K194*|PLD3_ENST00000409735.4_Nonsense_Mutation_p.K194*|PLD3_ENST00000409281.1_Nonsense_Mutation_p.K194*			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	194					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGACATGCAGAAGCTGACCCA	0.637																																																0													84	65	72					19																	40876046		2203	4300	6503	SO:0001587	stop_gained	23646			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"phospholipase D3"			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.580A>T	19.37:g.40876046A>T	ENSP00000387050:p.Lys194*		Q92853|Q9BW87	Nonsense_Mutation	SNP	ENST00000409587.1	37	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	A	39	7.633771	0.98403	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281	.	.	.	5.71	4.63	0.57726	.	0.242758	0.40728	N	0.001033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4839	10.6882	0.45856	0.8399:0.1601:0.0:0.0	.	.	.	.	X	194;194;194;175;194;194	.	ENSP00000348901:K194X	K	+	1	0	PLD3	45567886	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.256000	0.43231	2.165000	0.68154	0.533000	0.62120	AAG		0.637	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		T	40876046	A	T	40876046	4	4	287	1	0	0	0	0	0	1	0	0	12049	247	9	5	602	5	PLD3	19	40876046	Nonsense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10	25586083	40876046	18252937	82	17144											
COX6B2	125965	hgsc.bcm.edu;ucsc.edu	37	19	55865854	55865854	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr19:55865854delC	ENST00000593184.1	-	2	115	c.36delG	c.(34-36)gggfs	p.G12fs	COX6B2_ENST00000589879.1_5'Flank|COX6B2_ENST00000588572.2_Frame_Shift_Del_p.G12fs|COX6B2_ENST00000590900.1_Frame_Shift_Del_p.G12fs|COX6B2_ENST00000589467.1_Frame_Shift_Del_p.G12fs|COX6B2_ENST00000326529.4_Frame_Shift_Del_p.G12fs|CTD-2105E13.6_ENST00000591954.3_3'UTR			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	12						mitochondrial crista (GO:0030061)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCGACCATTTCCCCTTGGGGG	0.652																																					NSCLC(77;1057 1395 2148 36198 42783)											0													113	119	117					19																	55865854		1899	4097	5996	SO:0001589	frameshift_variant	125965			AK057427	CCDS42630.1	19q13.42	2011-07-04						"Mitochondrial respiratory chain complex / Complex IV"	24380	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit VIb, testes specific", "cancer/testis antigen 59"					12874793	Standard	NM_144613		Approved	COXVIB2, FLJ32865, CT59	uc002qkn.3	Q6YFQ2		ENST00000593184.1:c.36delG	19.37:g.55865854delC	ENSP00000467266:p.Gly12fs		Q7L1R4|Q96DL5	Frame_Shift_Del	DEL	ENST00000593184.1	37	CCDS42630.1																																																																																				0.652	COX6B2-003	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452965.2	NM_144613		-	55865854	C	-	55865854	7	5	287	1	0	1	0	1	0	0	0	0	3779	842	30	0	242	0	COX6B2	19	55865854	Frame_Shift_Del	DEL	C	TCGA-B8-5550-01A-01D-1534-10	14989808	55865854	3263129	83	17145											
C20orf26	26074	hgsc.bcm.edu;ucsc.edu	37	20	20243667	20243667	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr20:20243667A>T	ENST00000245957.5	+	21	2472	c.2396A>T	c.(2395-2397)cAg>cTg	p.Q799L	C20orf26_ENST00000389656.3_Missense_Mutation_p.Q155L|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377309.2_Missense_Mutation_p.Q155L|C20orf26_ENST00000377293.1_Missense_Mutation_p.Q155L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		799										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACAGCAGTCAGCGGCGGTAC	0.473																																																0													118	116	117					20																	20243667		2203	4300	6503	SO:0001583	missense	26074																														ENST00000245957.5:c.2396A>T	20.37:g.20243667A>T	ENSP00000245957:p.Gln799Leu		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	9.913	1.210187	0.22289	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.06	0.125	0.14718	.	0.877211	0.10264	N	0.695656	T	0.09423	0.0232	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.32798	-0.9893	10	0.28530	T	0.3	.	3.9069	0.09186	0.5234:0.0:0.2227:0.2539	.	779;155;799	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	L	739;155;155;779;799;155	ENSP00000366524:Q155L;ENSP00000374307:Q155L;ENSP00000245957:Q799L;ENSP00000366508:Q155L	ENSP00000245957:Q799L	Q	+	2	0	C20orf26	20191667	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.490000	0.22403	-0.166000	0.10890	-0.256000	0.11100	CAG		0.473	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			T	20243667	A	T	20243667	3	4	287	1	0	0	0	0	1	0	0	0	2108	188	7	5	2506	5	C20orf26	20	20243667	Missense_Mutation	SNP	A	TCGA-B8-5550-01A-01D-1534-10		20243667	42781853	84	17146											
HCK	3055	hgsc.bcm.edu;ucsc.edu	37	20	30676371	30676371	+	Splice_Site	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr20:30676371G>A	ENST00000520553.1	+	10	1199	c.953G>A	c.(952-954)gGa>gAa	p.G318E	HCK_ENST00000534862.1_Splice_Site_p.G319E|HCK_ENST00000375852.2_Splice_Site_p.G339E|HCK_ENST00000518730.1_Splice_Site_p.G317E|HCK_ENST00000538448.1_Splice_Site_p.G318E|HCK_ENST00000375862.2_Splice_Site_p.G338E	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G339E(1)|p.G318E(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCCCATATAGGAAGCTTGCTG	0.443																																																2	Substitution - Missense(2)	lung(2)											63	65	64					20																	30676371		2203	4300	6503	SO:0001630	splice_region_variant	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.953-1G>A	20.37:g.30676371G>A			A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326407	0.81690	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.97114	0.9806	9	.	.	.	.	16.6731	0.85271	0.0:0.0:1.0:0.0	.	317;339	P08631-3;P08631	.;HCK_HUMAN	E	319;318;338;318;317;339	ENSP00000444986:G319E;ENSP00000441169:G318E;ENSP00000365022:G338E;ENSP00000429848:G318E;ENSP00000427757:G317E;ENSP00000365012:G339E	.	G	+	2	0	HCK	30140032	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.256000	0.95535	2.505000	0.84491	0.549000	0.68633	GGA		0.443	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		Missense_Mutation	A	30676371	G	A	30676371	5	1	287	1	0	0	0	0	0	0	1	0	6996	1188	41	2	1060	2	HCK	20	30676371	Splice_Site	SNP	G	TCGA-B8-5550-01A-01D-1534-10	10432704	30676371	32349149	85	17147											
FAM48B1	100130302	hgsc.bcm.edu	37	X	24382644	24382644	+	IGR	SNP	C	C	T	rs370418088		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chrX:24382644C>T								AC004552.1 (15621 upstream) : PDK3 (100693 downstream)																							CCCAGCCCCCCACCAAATTCA	0.582																																																0													21	20	21					X																	24382644		1568	3582	5150	SO:0001628	intergenic_variant	0																															X.37:g.24382644C>T				Silent	SNP		37																																																																																				0	0.582									T	24382644	C	T	24382644	1	4	287	0	1	0	0	0	0	0	0	0	5575	581	21	2		2	FAM48B1	23	24382644	IGR	SNP	C	TCGA-B8-5550-01A-01D-1534-10		24382644	130887916	86	17148											
BCOR	54880	hgsc.bcm.edu;ucsc.edu	37	X	39931683	39931683	+	Nonsense_Mutation	SNP	G	G	T	rs370067698		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chrX:39931683G>T	ENST00000378444.4	-	4	3144	c.2916C>A	c.(2914-2916)taC>taA	p.Y972*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.Y972*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.Y972*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.Y972*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	972					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCACCCACGTAACCCGCTG	0.517			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													78	47	58					X																	39931683		2201	4300	6501	SO:0001587	stop_gained	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2916C>A	X.37:g.39931683G>T	ENSP00000367705:p.Tyr972*		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	40	8.232810	0.98717	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	.	.	.	5.83	0.298	0.15766	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.195	12.0877	0.53706	0.5008:0.0:0.4992:0.0	.	.	.	.	X	972;972;972;972;972;379	.	ENSP00000345923:Y972X	Y	-	3	2	BCOR	39816627	0.804000	0.28969	0.998000	0.56505	0.998000	0.95712	-0.055000	0.11807	-0.025000	0.13918	0.600000	0.82982	TAC		0.517	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		T	39931683	G	T	39931683	4	4	287	1	0	0	0	0	0	1	0	0	1386	1140	40	4	2399	4	BCOR	23	39931683	Nonsense_Mutation	SNP	G	TCGA-B8-5550-01A-01D-1534-10	15549039	39931683	115338877	87	17149											
CASK	8573	hgsc.bcm.edu;ucsc.edu	37	X	41428920	41428920	+	Splice_Site	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chrX:41428920C>T	ENST00000378163.1	-	16	2057		c.e16+1		RNU6-1321P_ENST00000390905.1_RNA|CASK_ENST00000378158.1_Splice_Site|CASK_ENST00000421587.2_Splice_Site|CASK_ENST00000472704.1_Splice_Site|CASK_ENST00000378154.1_Splice_Site|CASK_ENST00000361962.4_Splice_Site|CASK_ENST00000378166.4_Splice_Site|CASK_ENST00000442742.2_Splice_Site|CASK_ENST00000318588.9_Splice_Site			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)						calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATGAAACTTACCTTGCCTGTG	0.303																																					NSCLC(42;104 1086 3090 27189 35040)											0													106	103	104					X																	41428920		2202	4300	6502	SO:0001630	splice_region_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1582+1G>A	X.37:g.41428920C>T			A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Splice_Site	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.137726	0.77775	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5898	0.87992	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASK	41313864	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.109000	0.77062	2.081000	0.62600	0.538000	0.68166	.		0.303	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688	Intron	T	41428920	C	T	41428920	5	4	287	1	0	0	0	0	0	0	1	0	2667	521	18	2	1245	2	CASK	23	41428920	Splice_Site	SNP	C	TCGA-B8-5550-01A-01D-1534-10	1497237	41428920	113841640	88	17150											
VHL	7428	hgsc.bcm.edu	37	3	10183767	10183767	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5550-01A-01W-1584-10	TCGA-B8-5550-10A-01W-1585-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq	.		PacBio RS	f8dca1fa-9afd-4eb6-b608-ac8a63ced992	a7a3d0df-1143-4b79-89b7-e2cddcd25fa9	g.chr3:10183767G>C	ENST00000256474.2	+	1	1076	c.236G>C	c.(235-237)cGc>cCc	p.R79P	VHL_ENST00000345392.2_Missense_Mutation_p.R79P|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	79			R -> P (in VHLD).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S72_V87>L(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.R79P(1)|p.C77_R79del(1)|p.R79H(1)|p.N78fs*80(1)|p.V74fs*77(1)|p.R79_P81>P(1)|p.F76fs*81(1)|p.R79fs*52(1)|p.N78fs*50(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTCTGCAATCGCAGTCCGCGC	0.711		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Deletion - Frameshift(6)|Substitution - Missense(2)|Complex - deletion inframe(2)|Complex - frameshift(1)|Deletion - In frame(1)	kidney(12)	GRCh37	CM941366	VHL	M							12	15	14					3																	10183767		2175	4236	6411	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.236G>C	3.37:g.10183767G>C	ENSP00000256474:p.Arg79Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146045	0.94603	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99833	-7.03;-7.03	5.43	4.56	0.56223	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.221156	0.48286	D	0.000186	D	0.99684	0.9881	M	0.65498	2.005	0.26769	N	0.969848	D;D	0.76494	0.997;0.999	P;D	0.72338	0.906;0.977	D	0.99050	1.0827	10	0.59425	D	0.04	-11.3454	12.3184	0.54971	0.0825:0.0:0.9174:0.0	.	79;79	P40337-2;P40337	.;VHL_HUMAN	P	79	ENSP00000256474:R79P;ENSP00000344757:R79P	ENSP00000256474:R79P	R	+	2	0	VHL	10158767	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.892000	0.39748	1.300000	0.44818	0.550000	0.68814	CGC		0.711	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10183767	G	C	10183767	3	2	288	1	0	0	0	0	1	0	0	0	17167	1087	38	4	238	4	VHL	3	10183767	Missense_Mutation	SNP	G	TCGA-B8-5550-01A-01W-1584-10		10183767	187838663	1	17151											
SLC35E2	728661	broad.mit.edu	37	1	1597429	1597429	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr1:1597429G>A	ENST00000378662.1	-	10	1770	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	SLC35E2B_ENST00000234800.6_Missense_Mutation_p.S337F			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B	337						integral component of membrane (GO:0016021)		p.S337F(2)		kidney(1)|lung(1)	2						GAGCCAGATGGACAAGGCATG	0.627																																																2	Substitution - Missense(2)	kidney(2)											40	34	36					1																	1597429		692	1591	2283	SO:0001583	missense	728661				CCDS44041.1	1p36.33	2013-05-22			ENSG00000189339	ENSG00000189339		"Solute carriers"	33941	protein-coding gene	gene with protein product							Standard	XM_006710870		Approved		uc001ahg.4	P0CK96	OTTHUMG00000078639	ENST00000378662.1:c.1010C>T	1.37:g.1597429G>A	ENSP00000367931:p.Ser337Phe		B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8	Missense_Mutation	SNP	ENST00000378662.1	37	CCDS44041.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.175716	0.78564	.	.	ENSG00000189339	ENST00000378662;ENST00000234800	T;T	0.63417	-0.04;-0.04	5.44	5.44	0.79542	Domain of unknown function DUF250 (1);	0.000000	0.64402	D	0.000004	T	0.75693	0.3884	L	0.60455	1.87	0.58432	D	0.999999	D	0.65815	0.995	D	0.63877	0.919	T	0.77787	-0.2457	10	0.87932	D	0	-46.0601	18.2366	0.89951	0.0:0.0:1.0:0.0	.	337	P0CK96	S352B_HUMAN	F	337	ENSP00000367931:S337F;ENSP00000234800:S337F	ENSP00000234800:S337F	S	-	2	0	SLC35E2B	1587292	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	7.741000	0.84997	2.555000	0.86185	0.484000	0.47621	TCC		0.627	SLC35E2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171589.1			A	1597429	G	A	1597429	3	1	289	1	0	0	0	0	1	0	0	0	14591	1174	41	2	211	2	SLC35E2	1	1597429	Missense_Mutation	SNP	G	TCGA-B8-5551-01A-01D-1534-10		1597429	247653192	1	17152											
TMEM17	200728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	62728554	62728554	+	Silent	SNP	G	G	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr2:62728554G>T	ENST00000335390.5	-	4	598	c.387C>A	c.(385-387)ctC>ctA	p.L129L		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	129					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.L129L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			CTTCATTAAAGAGCAAGAAAA	0.378																																																1	Substitution - coding silent(1)	kidney(1)											87	93	91					2																	62728554		2203	4300	6503	SO:0001819	synonymous_variant	200728				CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.387C>A	2.37:g.62728554G>T			Q53QP7|Q53R98	Silent	SNP	ENST00000335390.5	37	CCDS1871.1																																																																																				0.378	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276		T	62728554	G	T	62728554	2	4	289	1	0	0	0	0	0	0	0	1	16090	929	33	4		4	TMEM17	2	62728554	Silent	SNP	G	TCGA-B8-5551-01A-01D-1534-10		62728554	180470819	2	17153											
TTN	7273	hgsc.bcm.edu	37	2	179611843	179611875	+	Intron	DEL	TATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	TATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	-	rs61233923|rs72648910|rs141105907|rs565824755|rs557767596|rs397517814	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	TATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	TATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr2:179611843_179611875delTATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_In_Frame_Del_p.5084_5095YSTPPGETLERY>Y|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)	p.T5086A(1)|p.P5087T(1)		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)			GGGTGTGGAGTATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAATATCTCTCTA	0.545																																																2	Substitution - Missense(2)	ovary(1)|breast(1)							,,,,	434,3826		31,372,1727					,,,,	-11	0			71	139,8111		1,137,3987	no	intron,intron,coding,intron,intron	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	,,,,	32,509,5714	A1A1,A1R,RR		1.6848,10.1878,4.5803	,,,,	,,,,		573,11937				SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5195TTCCACACCCCCAGGAGAGACTCTGGAGAGATA>-	2.37:g.179611843_179611875delTATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA			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	In_Frame_Del	DEL	ENST00000591111.1	37																																																																																					0.545	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179611875	TATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	-	179611843	6	5	289	0	1	1	0	1	0	0	0	0	16740	1638	57	0		0	TTN	2	179611843	Intron	DEL	TATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	TCGA-B8-5551-01A-01D-1534-10	116883289	179611843	63587530	3	17154											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188254	10188254	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:10188254A>C	ENST00000256474.2	+	2	1237	c.397A>C	c.(397-399)Act>Cct	p.T133P	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	133	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.T133fs*26(1)|p.T133fs*25(1)|p.N131fs*10(1)|p.T133P(1)|p.N131*(1)|p.T133S(1)|p.Q132_T133insINQ(1)|p.N131fs*7(1)|p.T133fs*2(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGTTAACCAAACTGAATTATT	0.443		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Deletion - Frameshift(5)|Substitution - Missense(2)|Insertion - Frameshift(1)|Insertion - In frame(1)	kidney(9)	GRCh37	CD983002	VHL	D							209	194	199					3																	10188254		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.397A>C	3.37:g.10188254A>C	ENSP00000256474:p.Thr133Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533320	0.64972	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99815	-6.9	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.104234	0.64402	D	0.000006	D	0.99462	0.9809	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.65773	0.938	D	0.97976	1.0346	10	0.39692	T	0.17	-9.3027	13.0886	0.59154	1.0:0.0:0.0:0.0	.	133	P40337	VHL_HUMAN	P	133;51	ENSP00000256474:T133P	ENSP00000256474:T133P	T	+	1	0	VHL	10163254	0.752000	0.28338	0.671000	0.29857	0.791000	0.44710	3.195000	0.51013	2.047000	0.60756	0.460000	0.39030	ACT		0.443	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10188254	A	C	10188254	3	2	289	1	0	0	0	0	1	0	0	0	17167	43	2	5	403	5	VHL	3	10188254	Missense_Mutation	SNP	A	TCGA-B8-5551-01A-01D-1534-10		10188254	187834176	4	17155											
NR1D2	9975	hgsc.bcm.edu;ucsc.edu	37	3	24018838	24018838	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:24018838delA	ENST00000312521.4	+	8	1987	c.1668delA	c.(1666-1668)ctafs	p.L556fs	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	556	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AACTGCTTCTAAAGTTGCCAG	0.393																																																0													75	80	79					3																	24018838		2203	4300	6503	SO:0001589	frameshift_variant	9975			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1668delA	3.37:g.24018838delA	ENSP00000310006:p.Leu556fs		B2R8Q3|O00402|Q86XD4	Frame_Shift_Del	DEL	ENST00000312521.4	37	CCDS33718.1																																																																																				0.393	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			-	24018838	A	-	24018838	7	5	289	1	0	1	0	1	0	0	0	0	10618	349	13	0	1698	0	NR1D2	3	24018838	Frame_Shift_Del	DEL	A	TCGA-B8-5551-01A-01D-1534-10	13830584	24018838	174003592	5	17156											
HHATL	57467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	42734320	42734320	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:42734320C>T	ENST00000441594.1	-	12	1699	c.1438G>A	c.(1438-1440)Gtc>Atc	p.V480I	HHATL_ENST00000310417.5_Missense_Mutation_p.V480I	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	480					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.V480I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ACCAGCTGGACGCCACAGTAG	0.597																																																2	Substitution - Missense(2)	kidney(1)|central_nervous_system(1)											102	87	92					3																	42734320		2203	4300	6503	SO:0001583	missense	57467			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1438G>A	3.37:g.42734320C>T	ENSP00000405423:p.Val480Ile		Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	CCDS2704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	5.605|5.605	0.296373|0.296373	0.10622|0.10622	.|.	.|.	ENSG00000010282|ENSG00000010282	ENST00000426666|ENST00000310417;ENST00000441594	.|T;T	.|0.19250	.|2.16;2.16	3.25|3.25	3.25|3.25	0.37280|0.37280	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.12008|0.12008	0.0292|0.0292	L|L	0.29908|0.29908	0.895|0.895	0.53005|0.53005	D|D	0.999963|0.999963	.|P	.|0.37688	.|0.605	.|B	.|0.21151	.|0.033	T|T	0.16012|0.16012	-1.0417|-1.0417	5|10	.|0.26408	.|T	.|0.33	-28.7581|-28.7581	13.7052|13.7052	0.62633|0.62633	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|480	.|Q9HCP6	.|HHATL_HUMAN	H|I	99|480	.|ENSP00000310621:V480I;ENSP00000405423:V480I	.|ENSP00000310621:V480I	R|V	-|-	2|1	0|0	HHATL|HHATL	42709324|42709324	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.126000|0.126000	0.20510|0.20510	2.857000|2.857000	0.48349|0.48349	1.681000|1.681000	0.50988|0.50988	0.177000|0.177000	0.17058|0.17058	CGT|GTC		0.597	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		T	42734320	C	T	42734320	3	4	289	1	0	0	0	0	1	0	0	0	7092	536	19	1	80	1	HHATL	3	42734320	Missense_Mutation	SNP	C	TCGA-B8-5551-01A-01D-1534-10	18715482	42734320	155288110	6	17157											
BAP1	51533	broad.mit.edu;ucsc.edu	37	3	52443729	52443729	+	5'Flank	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:52443729C>T	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Splice_Site|BAP1_ENST00000296288.5_Splice_Site	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.?(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AAGGCTCTTACCGAAATCTTC	0.662																																																1	Unknown(1)	kidney(1)											41	48	46					3																	52443729		2203	4299	6502	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443729C>T	Exception_encountered		K4DI82	Splice_Site	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587833	0.86851	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5758	0.87949	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52418769	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.356000	0.79445	2.228000	0.72767	0.655000	0.94253	.		0.662	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		T	52443729	C	T	52443729	1	4	289	0	1	0	0	0	0	0	0	0	1311	521	18	2		2	BAP1	3	52443729	5'Flank	SNP	C	TCGA-B8-5551-01A-01D-1534-10	9709409	52443729	145578701	7	17158											
SLC12A8	84561	broad.mit.edu	37	3	124906161	124906161	+	Missense_Mutation	SNP	C	C	T	rs376320288		TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:124906161C>T	ENST00000393469.4	-	3	359	c.310G>A	c.(310-312)Ggt>Agt	p.G104S	SLC12A8_ENST00000469902.1_Missense_Mutation_p.G104S|SLC12A8_ENST00000423114.2_Missense_Mutation_p.G133S|SLC12A8_ENST00000314584.7_5'UTR	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	104					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.G104S(1)|p.G142S(1)		endometrium(2)|kidney(2)|lung(12)	16						TAGACGCCACCGCTGCCGATG	0.647																																																2	Substitution - Missense(2)	kidney(2)						C	SER/GLY,SER/GLY	1,4347		0,1,2173	57	78	71		310,310	5.2	0.7	3		71	1,8545		0,1,4272	no	missense,missense	SLC12A8	NM_001195483.1,NM_024628.5	56,56	0,2,6445	TT,TC,CC		0.0117,0.023,0.0155	probably-damaging,probably-damaging	104/715,104/715	124906161	2,12892	2174	4273	6447	SO:0001583	missense	84561				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.310G>A	3.37:g.124906161C>T	ENSP00000377112:p.Gly104Ser		C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	CCDS43143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.473851|4.473851	0.84640|0.84640	2.3E-4|2.3E-4	1.17E-4|1.17E-4	ENSG00000221955|ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000462437|ENST00000479826	D;D;D;D|T	0.99466|0.78364	-5.95;-5.95;-5.95;-5.95|-1.17	5.18|5.18	5.18|5.18	0.71444|0.71444	Amino acid permease domain (1);|.	.|.	.|.	.|.	.|.	D|D	0.92237|0.92237	0.7538|0.7538	H|H	0.95850|0.95850	3.73|3.73	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94319|0.94319	0.7552|0.7552	9|6	0.87932|.	D|.	0|.	.|.	18.8906|18.8906	0.92399|0.92399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	133;104|.	A0AV02-2;A0AV02|.	.;S12A8_HUMAN|.	S|Q	104;133;104;72|63	ENSP00000377112:G104S;ENSP00000404243:G133S;ENSP00000418783:G104S;ENSP00000418636:G72S|ENSP00000420197:R63Q	ENSP00000377112:G104S|.	G|R	-|-	1|2	0|0	SLC12A8|SLC12A8	126388851|126388851	1.000000|1.000000	0.71417|0.71417	0.704000|0.704000	0.30370|0.30370	0.632000|0.632000	0.37999|0.37999	7.266000|7.266000	0.78452|0.78452	2.708000|2.708000	0.92522|0.92522	0.643000|0.643000	0.83706|0.83706	GGT|CGG		0.647	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		T	124906161	C	T	124906161	3	4	289	1	0	0	0	0	1	0	0	0	14395	652	23	1	1878	1	SLC12A8	3	124906161	Missense_Mutation	SNP	C	TCGA-B8-5551-01A-01D-1534-10	72462432	124906161	73116269	8	17159											
PLCH1	23007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	155215167	155215167	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:155215167T>G	ENST00000340059.7	-	14	1799	c.1800A>C	c.(1798-1800)gaA>gaC	p.E600D	PLCH1_ENST00000460012.1_Missense_Mutation_p.E582D|PLCH1_ENST00000447496.2_Missense_Mutation_p.E600D|PLCH1_ENST00000414191.1_Missense_Mutation_p.E582D|PLCH1_ENST00000494598.1_Missense_Mutation_p.E600D|PLCH1_ENST00000334686.6_Missense_Mutation_p.E582D	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	600					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E600D(1)|p.E582D(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATCAGAGAGTTCTCGGCAGA	0.468																																																2	Substitution - Missense(2)	kidney(2)											134	122	126					3																	155215167		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1800A>C	3.37:g.155215167T>G	ENSP00000345988:p.Glu600Asp		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.987185	0.35036	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.76	-0.871	0.10642	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (1);	0.395973	0.29916	N	0.010862	T	0.49115	0.1538	L	0.55990	1.75	0.28324	N	0.922087	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.15484	0.008;0.013;0.001	T	0.20107	-1.0285	10	0.24483	T	0.36	.	0.7479	0.00985	0.2403:0.3505:0.1602:0.249	.	582;600;600	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	D	600;582;600;600;582;582	ENSP00000419100:E600D;ENSP00000417502:E582D;ENSP00000402759:E600D;ENSP00000345988:E600D;ENSP00000335469:E582D;ENSP00000412977:E582D	ENSP00000335469:E582D	E	-	3	2	PLCH1	156697861	0.999000	0.42202	0.985000	0.45067	0.986000	0.74619	0.743000	0.26231	-0.037000	0.13646	0.533000	0.62120	GAA		0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		G	155215167	T	G	155215167	3	3	289	1	0	0	0	0	1	0	0	0	12039	1722	60	5	3336	5	PLCH1	3	155215167	Missense_Mutation	SNP	T	TCGA-B8-5551-01A-01D-1534-10	30309006	155215167	42807263	9	17160											
EIF2B5	8893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	183859715	183859715	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr3:183859715G>A	ENST00000273783.3	+	8	1281	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	EIF2B5_ENST00000444495.1_Missense_Mutation_p.D387N	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	387					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.D387N(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGAGCCAGGTGATAACGTGGT	0.572																																																1	Substitution - Missense(1)	kidney(1)											130	116	121					3																	183859715		2203	4300	6503	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1159G>A	3.37:g.183859715G>A	ENSP00000273783:p.Asp387Asn		Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	15.25	2.779236	0.49891	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.94280	-3.39;-3.39	5.55	5.55	0.83447	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	L	0.58101	1.795	0.58432	D	0.999999	B;B	0.20887	0.004;0.049	B;B	0.17433	0.005;0.018	D	0.87585	0.2487	10	0.17369	T	0.5	.	17.6957	0.88281	0.0:0.0:1.0:0.0	.	387;387	E9PC74;Q13144	.;EI2BE_HUMAN	N	387;387;143	ENSP00000273783:D387N;ENSP00000409142:D387N	ENSP00000273783:D387N	D	+	1	0	EIF2B5	185342409	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.781000	0.68964	2.630000	0.89119	0.561000	0.74099	GAT		0.572	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			A	183859715	G	A	183859715	3	1	289	1	0	0	0	0	1	0	0	0	5006	1290	45	2	1189	2	EIF2B5	3	183859715	Missense_Mutation	SNP	G	TCGA-B8-5551-01A-01D-1534-10	28644548	183859715	14162715	10	17161											
MFSD7	84179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	680061	680061	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr4:680061C>T	ENST00000404286.2	-	3	340	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000503156.1_Missense_Mutation_p.G45R|MFSD7_ENST00000322224.4_Missense_Mutation_p.G109R|MFSD7_ENST00000347950.5_Intron	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	109					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.G109R(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						AGCACACTCCCGGCAAAGTTC	0.652																																																1	Substitution - Missense(1)	kidney(1)											61	59	60					4																	680061		2203	4300	6503	SO:0001583	missense	84179			AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.325G>A	4.37:g.680061C>T	ENSP00000384616:p.Gly109Arg		A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37		.	.	.	.	.	.	.	.	.	.	C	16.62	3.172958	0.57584	.	.	ENSG00000169026	ENST00000322224;ENST00000404286;ENST00000503156;ENST00000507165	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.63	4.63	0.57726	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	M	0.91768	3.24	0.47547	D	0.99945	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85829	0.1390	10	0.87932	D	0	-29.3812	12.8677	0.57948	0.0:1.0:0.0:0.0	.	45;109;109	D6RIZ6;Q6UXD7;Q6UXD7-2	.;MFSD7_HUMAN;.	R	109;109;45;45	ENSP00000320234:G109R;ENSP00000384616:G109R;ENSP00000425753:G45R;ENSP00000424556:G45R	ENSP00000320234:G109R	G	-	1	0	MFSD7	670061	0.994000	0.37717	0.827000	0.32855	0.125000	0.20455	3.683000	0.54663	2.420000	0.82092	0.561000	0.74099	GGG		0.652	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		T	680061	C	T	680061	3	4	289	1	0	0	0	0	1	0	0	0	9539	652	23	1	1386	1	MFSD7	4	680061	Missense_Mutation	SNP	C	TCGA-B8-5551-01A-01D-1534-10		680061	190474215	11	17162											
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	126242662	126242662	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr4:126242662A>T	ENST00000394329.3	+	1	5109	c.5096A>T	c.(5095-5097)gAg>gTg	p.E1699V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1699	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1699V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGGACCGGGAGCAAGGAGCA	0.413																																																2	Substitution - Missense(2)	kidney(2)											94	90	91					4																	126242662		1900	4121	6021	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5096A>T	4.37:g.126242662A>T	ENSP00000377862:p.Glu1699Val		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431927	0.83776	.	.	ENSG00000196159	ENST00000394329	T	0.59083	0.29	5.27	5.27	0.74061	Cadherin (3);Cadherin-like (1);	0.000000	0.34676	U	0.003761	D	0.82342	0.5016	H	0.94964	3.605	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.87401	0.2369	10	0.66056	D	0.02	.	15.2098	0.73214	1.0:0.0:0.0:0.0	.	1699	Q6V0I7	FAT4_HUMAN	V	1699	ENSP00000377862:E1699V	ENSP00000377862:E1699V	E	+	2	0	FAT4	126462112	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.052000	0.93855	1.997000	0.58415	0.533000	0.62120	GAG		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126242662	A	T	126242662	3	4	289	1	0	0	0	0	1	0	0	0	5694	304	11	5	5098	5	FAT4	4	126242662	Missense_Mutation	SNP	A	TCGA-B8-5551-01A-01D-1534-10	125562601	126242662	64911614	12	17163											
PCDHB1	29930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140432180	140432180	+	Silent	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr5:140432180C>T	ENST00000306549.3	+	1	1202	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	375	Cadherin 4. {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)	p.D375D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGACCGGGACATTCGAGTGG	0.493																																																1	Substitution - coding silent(1)	kidney(1)											113	104	107					5																	140432180		2203	4300	6503	SO:0001819	synonymous_variant	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1125C>T	5.37:g.140432180C>T			Q2M257	Silent	SNP	ENST00000306549.3	37	CCDS4243.1																																																																																				0.493	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		T	140432180	C	T	140432180	2	4	289	1	0	0	0	0	0	0	0	1	11536	477	17	2		2	PCDHB1	5	140432180	Silent	SNP	C	TCGA-B8-5551-01A-01D-1534-10		140432180	40483080	13	17164											
CAMK2A	815	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149619293	149619293	+	Intron	SNP	T	T	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr5:149619293T>G	ENST00000348628.6	-	14	1650				CAMK2A_ENST00000351010.6_Intron|CAMK2A_ENST00000398376.3_Missense_Mutation_p.K331Q	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha						calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)	p.K331Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACTGGACTTTCTTTTCTGG	0.547																																																1	Substitution - Missense(1)	kidney(1)											104	105	105					5																	149619293		2028	4179	6207	SO:0001627	intron_variant	815			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.985-982A>C	5.37:g.149619293T>G			Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845568	0.32606	.	.	ENSG00000070808	ENST00000398376	T	0.68025	-0.3	5.49	5.49	0.81192	.	0.454089	0.19561	N	0.111337	T	0.54398	0.1856	L	0.29908	0.895	0.39598	D	0.969691	B;B	0.14438	0.01;0.006	B;B	0.15870	0.014;0.006	T	0.51498	-0.8698	10	0.13853	T	0.58	.	15.571	0.76337	0.0:0.0:0.0:1.0	.	331;331	Q9UQM7-2;A8K161	.;.	Q	331	ENSP00000381412:K331Q	ENSP00000381412:K331Q	K	-	1	0	CAMK2A	149599486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.244000	0.78228	2.096000	0.63516	0.402000	0.26972	AAG		0.547	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		G	149619293	T	G	149619293	1	3	289	0	1	0	0	0	0	0	0	0	2601	1850	64	5		5	CAMK2A	5	149619293	Intron	SNP	T	TCGA-B8-5551-01A-01D-1534-10	9187113	149619293	31295967	14	17165											
RBM24	221662	hgsc.bcm.edu	37	6	17292140	17292140	+	Silent	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr6:17292140C>T	ENST00000379052.5	+	4	737	c.501C>T	c.(499-501)gcC>gcT	p.A167A	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Silent_p.A109A|RBM24_ENST00000318204.5_Silent_p.A122A	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	167	Ala-rich.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ctgctgctgccgccgccgctg	0.597																																																0													19	25	23					6																	17292140		2163	4213	6376	SO:0001819	synonymous_variant	221662			BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"RNA binding motif (RRM) containing"	21539	protein-coding gene	gene with protein product			"RNA-binding region (RNP1, RRM) containing 6"	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.501C>T	6.37:g.17292140C>T			E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Silent	SNP	ENST00000379052.5	37	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	C	4.562	0.104330	0.08731	.	.	ENSG00000112183	ENST00000503965	.	.	.	5.71	-4.97	0.03029	.	.	.	.	.	T	0.10981	0.0268	.	.	.	0.80722	D	1	B;B	0.20780	0.048;0.048	B;B	0.15870	0.014;0.014	T	0.27331	-1.0077	6	.	.	.	-1.1389	1.4301	0.02332	0.1688:0.328:0.2466:0.2565	.	66;81	B7Z6B4;B7Z6B7	.;.	L	132	.	.	P	+	2	0	RBM24	17400119	0.001000	0.12720	0.922000	0.36590	0.944000	0.59088	-2.068000	0.01382	-0.545000	0.06224	0.591000	0.81541	CCG		0.597	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		T	17292140	C	T	17292140	2	4	289	1	0	0	0	0	0	0	0	1	13130	639	23	1		1	RBM24	6	17292140	Silent	SNP	C	TCGA-B8-5551-01A-01D-1534-10		17292140	153822927	15	17166											
TNRC18	84629	broad.mit.edu;hgsc.bcm.edu	37	7	5348898	5348898	+	Silent	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr7:5348898G>A	ENST00000430969.1	-	28	8838	c.8490C>T	c.(8488-8490)gcC>gcT	p.A2830A	TNRC18_ENST00000399537.4_Silent_p.A2830A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2830	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						chromatin binding (GO:0003682)	p.A2830A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGGGCGGCCGGCAGAGAGGA	0.637																																																2	Substitution - coding silent(2)	kidney(2)											40	44	43					7																	5348898		2021	4180	6201	SO:0001819	synonymous_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8490C>T	7.37:g.5348898G>A			A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																				0.637	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5348898	G	A	5348898	2	1	289	1	0	0	0	0	0	0	0	1	16344	1103	39	1		1	TNRC18	7	5348898	Silent	SNP	G	TCGA-B8-5551-01A-01D-1534-10		5348898	153789765	16	17167											
DUSP26	78986	broad.mit.edu;ucsc.edu	37	8	33451243	33451243	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr8:33451243C>T	ENST00000256261.4	-	3	761	c.244G>A	c.(244-246)Gag>Aag	p.E82K	DUSP26_ENST00000523956.1_Missense_Mutation_p.E82K	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	82	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)	p.E82K(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CGGCGAAGCTCCCGGCGGTTG	0.617																																																1	Substitution - Missense(1)	kidney(1)											52	49	50					8																	33451243		2203	4300	6503	SO:0001583	missense	78986			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.244G>A	8.37:g.33451243C>T	ENSP00000256261:p.Glu82Lys		D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860278	0.32884	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.60548	0.18;0.18;0.18	4.76	4.76	0.60689	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.118844	0.64402	D	0.000010	T	0.41373	0.1156	N	0.16307	0.4	0.47737	D	0.999502	B	0.17667	0.023	B	0.19946	0.027	T	0.30001	-0.9993	10	0.09084	T	0.74	-36.327	17.7342	0.88388	0.0:1.0:0.0:0.0	.	82	Q9BV47	DUS26_HUMAN	K	82	ENSP00000256261:E82K;ENSP00000429176:E82K;ENSP00000430922:E82K	ENSP00000256261:E82K	E	-	1	0	DUSP26	33570785	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	5.947000	0.70242	2.359000	0.80004	0.563000	0.77884	GAG		0.617	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025		T	33451243	C	T	33451243	3	4	289	1	0	0	0	0	1	0	0	0	4825	864	30	2	399	2	DUSP26	8	33451243	Missense_Mutation	SNP	C	TCGA-B8-5551-01A-01D-1534-10		33451243	112912779	17	17168											
ZFHX4	79776	broad.mit.edu	37	8	77768349	77768349	+	Silent	SNP	T	T	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr8:77768349T>C	ENST00000521891.2	+	10	9640	c.9192T>C	c.(9190-9192)ctT>ctC	p.L3064L	ZFHX4_ENST00000518282.1_Silent_p.L3038L|ZFHX4_ENST00000050961.6_Silent_p.L3019L|ZFHX4_ENST00000455469.2_Silent_p.L3019L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3019	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L3048L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCAAGAACTTGATCGTATAA	0.537										HNSCC(33;0.089)																																						1	Substitution - coding silent(1)	kidney(1)											110	111	111					8																	77768349		2040	4193	6233	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9192T>C	8.37:g.77768349T>C			G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		C	77768349	T	C	77768349	2	2	289	1	0	0	0	0	0	0	0	1	17640	1799	63	3		3	ZFHX4	8	77768349	Silent	SNP	T	TCGA-B8-5551-01A-01D-1534-10	44317106	77768349	68595673	18	17169											
ZNF33B	7582	broad.mit.edu;hgsc.bcm.edu	37	10	43088522	43088522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr10:43088522G>A	ENST00000359467.3	-	5	1990	c.1876C>T	c.(1876-1878)Cag>Tag	p.Q626*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	626					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q626*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CTCTGATGCTGAGTGAGTTGT	0.388																																					Melanoma(137;1247 1767 16772 25727 43810)											1	Substitution - Nonsense(1)	kidney(1)											97	98	98					10																	43088522		2203	4300	6503	SO:0001587	stop_gained	7582			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1876C>T	10.37:g.43088522G>A	ENSP00000352444:p.Gln626*		Q06731|Q32MA2|Q86XY8|Q8NDW3	Nonsense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	36	5.975690	0.97162	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	.	.	.	2.58	2.58	0.30949	.	0.000000	0.32328	N	0.006246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	6.8528	0.24024	0.0:0.0:0.7236:0.2764	.	.	.	.	X	626;592	.	ENSP00000352444:Q626X	Q	-	1	0	ZNF33B	42408528	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.338000	0.07842	1.773000	0.52216	0.409000	0.27619	CAG		0.388	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		A	43088522	G	A	43088522	4	1	289	1	0	0	0	0	0	1	0	0	17860	1299	45	2	464	2	ZNF33B	10	43088522	Nonsense_Mutation	SNP	G	TCGA-B8-5551-01A-01D-1534-10		43088522	92446225	19	17170											
CYP2C19	1557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96534859	96534859	+	Silent	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr10:96534859G>A	ENST00000371321.3	+	2	295	c.213G>A	c.(211-213)ctG>ctA	p.L71L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	71					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.L71L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATTTTGGCCTGGAACGCATGG	0.443																																																1	Substitution - coding silent(1)	kidney(1)											188	169	175					10																	96534859		2203	4300	6503	SO:0001819	synonymous_variant	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.213G>A	10.37:g.96534859G>A			P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP	ENST00000371321.3	37	CCDS7436.1																																																																																				0.443	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		A	96534859	G	A	96534859	2	1	289	1	0	0	0	0	0	0	0	1	4168	1335	47	2		2	CYP2C19	10	96534859	Silent	SNP	G	TCGA-B8-5551-01A-01D-1534-10	53446337	96534859	38999888	20	17171											
OR4C15	81309	hgsc.bcm.edu	37	11	55322635	55322635	+	Missense_Mutation	SNP	G	G	C	rs72140406	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr11:55322635G>C	ENST00000314644.2	+	1	853	c.853G>C	c.(853-855)Ggg>Cgg	p.G285R		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CAGTTCTGAAGGGCGCTGGAA	0.448										HNSCC(20;0.049)																																						0													216	202	207					11																	55322635		2201	4296	6497	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.853G>C	11.37:g.55322635G>C	ENSP00000324958:p.Gly285Arg		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682896	0.29872	.	.	ENSG00000181939	ENST00000314644	T	0.00295	8.25	5.02	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00845	0.0028	M	0.90977	3.165	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.31081	-0.9956	9	0.72032	D	0.01	.	10.4254	0.44375	0.1003:0.0:0.8997:0.0	.	231	Q8NGM1	OR4CF_HUMAN	R	285	ENSP00000324958:G285R	ENSP00000324958:G285R	G	+	1	0	OR4C15	55079211	0.001000	0.12720	0.152000	0.22495	0.139000	0.21198	1.001000	0.29783	1.276000	0.44395	0.385000	0.25706	GGG		0.448	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		C	55322635	G	C	55322635	3	2	289	1	0	0	0	0	1	0	0	0	11050	1000	35	4	855	4	OR4C15	11	55322635	Missense_Mutation	SNP	G	TCGA-B8-5551-01A-01D-1534-10		55322635	79683881	21	17172											
KRTAP5-11	440051	hgsc.bcm.edu	37	11	71293818	71293818	+	Silent	SNP	C	C	T	rs200909312	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr11:71293818C>T	ENST00000398530.1	-	1	103	c.66G>A	c.(64-66)ggG>ggA	p.G22G	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	22						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCCACAGCCCCCACTGCCGG	0.632																																																0													33	49	43					11																	71293818		2193	4282	6475	SO:0001819	synonymous_variant	440051			AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"Keratin associated proteins"	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.66G>A	11.37:g.71293818C>T				Silent	SNP	ENST00000398530.1	37	CCDS41685.1																																																																																				0.632	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		T	71293818	C	T	71293818	2	4	289	1	0	0	0	0	0	0	0	1	8562	610	22	2		2	KRTAP5-11	11	71293818	Silent	SNP	C	TCGA-B8-5551-01A-01D-1534-10	15971183	71293818	63712698	22	17173											
USP28	57646	hgsc.bcm.edu;ucsc.edu	37	11	113694390	113694391	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr11:113694390_113694391delTT	ENST00000003302.4	-	12	1287_1288	c.1219_1220delAA	c.(1219-1221)aatfs	p.N407fs	USP28_ENST00000537706.1_Frame_Shift_Del_p.N407fs|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000545540.1_Frame_Shift_Del_p.N282fs|USP28_ENST00000260188.5_Frame_Shift_Del_p.N407fs|USP28_ENST00000544967.1_Frame_Shift_Del_p.N115fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	407	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTCTCTCTTATTTCGAATAAGC	0.317																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0																																										SO:0001589	frameshift_variant	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1219_1220delAA	11.37:g.113694390_113694391delTT	ENSP00000003302:p.Asn407fs		B0YJC0|B0YJC1|Q9P213	Frame_Shift_Del	DEL	ENST00000003302.4	37	CCDS31680.1																																																																																				0.317	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			-	113694391	TT	-	113694390	7	5	289	1	0	1	0	1	0	0	0	0	17063	1493	52	0	2069	0	USP28	11	113694390	Frame_Shift_Del	DEL	TT	TCGA-B8-5551-01A-01D-1534-10	42400572	113694390	21312126	23	17174											
CCND2	894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	4398012	4398012	+	Silent	SNP	T	T	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:4398012T>C	ENST00000261254.3	+	4	845	c.576T>C	c.(574-576)ttT>ttC	p.F192F		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	192					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.F192F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TTGCAGACTTTAAGTTTGCCA	0.552			T	IGL@	"NHL,CLL"																																		Dom	yes		12	12p13	894	cyclin D2		L	1	Substitution - coding silent(1)	kidney(1)											180	163	169					12																	4398012		2203	4300	6503	SO:0001819	synonymous_variant	894			AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"G1/S-specific cyclin D2"	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.576T>C	12.37:g.4398012T>C			A8K531|Q13955|Q5U035	Silent	SNP	ENST00000261254.3	37	CCDS8524.1																																																																																				0.552	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		C	4398012	T	C	4398012	2	2	289	1	0	0	0	0	0	0	0	1	2919	1751	61	3		3	CCND2	12	4398012	Silent	SNP	T	TCGA-B8-5551-01A-01D-1534-10		4398012	129453883	24	17175											
CAPZA3	93661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	18891595	18891595	+	Silent	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:18891595C>T	ENST00000317658.3	+	1	551	c.393C>T	c.(391-393)gaC>gaT	p.D131D	PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	131					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.D131D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ATGTGAATGACCACTATCCAA	0.383																																																1	Substitution - coding silent(1)	kidney(1)											90	82	85					12																	18891595		2203	4299	6502	SO:0001819	synonymous_variant	93661			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.393C>T	12.37:g.18891595C>T			Q969J0	Silent	SNP	ENST00000317658.3	37	CCDS8681.1																																																																																				0.383	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		T	18891595	C	T	18891595	2	4	289	1	0	0	0	0	0	0	0	1	2644	506	18	2		2	CAPZA3	12	18891595	Silent	SNP	C	TCGA-B8-5551-01A-01D-1534-10	14493583	18891595	114960300	25	17176											
COQ10A	93058	hgsc.bcm.edu;ucsc.edu	37	12	56662982	56662982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:56662982delG	ENST00000308197.5	+	3	682	c.421delG	c.(421-423)gtcfs	p.V141fs	COQ10A_ENST00000433805.2_Frame_Shift_Del_p.V109fs|COQ10A_ENST00000546544.1_Frame_Shift_Del_p.V124fs|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	141						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						CTTTCCACCTGTCATGGAACG	0.493																																																0													121	116	118					12																	56662982		1945	4126	6071	SO:0001589	frameshift_variant	93058			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"coenzyme Q10 homolog A (yeast)"				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.421delG	12.37:g.56662982delG	ENSP00000312587:p.Val141fs		Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Frame_Shift_Del	DEL	ENST00000308197.5	37	CCDS41796.1																																																																																				0.493	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		-	56662982	G	-	56662982	7	5	289	1	0	1	0	1	0	0	0	0	3745	1377	48	0	473	0	COQ10A	12	56662982	Frame_Shift_Del	DEL	G	TCGA-B8-5551-01A-01D-1534-10	37771387	56662982	77188913	26	17177											
IL22	50616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	68646407	68646407	+	Silent	SNP	C	C	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:68646407C>A	ENST00000538666.1	-	4	343	c.273G>T	c.(271-273)ctG>ctT	p.L91L	IL22_ENST00000328087.4_Silent_p.L91L			Q9GZX6	IL22_HUMAN	interleukin 22	91					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)	p.L91L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		CCTGCTTCATCAGATAGCAGC	0.517																																																1	Substitution - coding silent(1)	kidney(1)											100	87	91					12																	68646407		2203	4300	6503	SO:0001819	synonymous_variant	50616			AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"Interleukins and interleukin receptors"	14900	protein-coding gene	gene with protein product	"IL-10-related T-cell-derived inducible factor"	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.273G>T	12.37:g.68646407C>A				Silent	SNP	ENST00000538666.1	37	CCDS8982.1																																																																																				0.517	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		A	68646407	C	A	68646407	2	1	289	1	0	0	0	0	0	0	0	1	7674	813	29	4		4	IL22	12	68646407	Silent	SNP	C	TCGA-B8-5551-01A-01D-1534-10	11983425	68646407	65205488	27	17178											
LTA4H	4048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96397644	96397644	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:96397644C>T	ENST00000228740.2	-	17	1726	c.1585G>A	c.(1585-1587)Gcc>Acc	p.A529T	LTA4H_ENST00000413268.2_Intron|LTA4H_ENST00000548375.1_5'Flank|LTA4H_ENST00000552789.1_Missense_Mutation_p.A505T|RP11-256L6.3_ENST00000551849.1_RNA	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	529					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A529T(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TTGTTAATGGCATTGAAGTTG	0.378																																																1	Substitution - Missense(1)	kidney(1)											182	151	162					12																	96397644		2203	4300	6503	SO:0001583	missense	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1585G>A	12.37:g.96397644C>T	ENSP00000228740:p.Ala529Thr		B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236796	0.39498	.	.	ENSG00000111144	ENST00000228740;ENST00000552789	T;T	0.42900	0.96;0.96	5.46	5.46	0.80206	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.261968	0.44285	D	0.000469	T	0.35566	0.0936	L	0.38531	1.155	0.80722	D	1	B;B	0.22276	0.059;0.067	B;B	0.16289	0.009;0.015	T	0.11397	-1.0589	10	0.16896	T	0.51	-8.2141	19.6799	0.95958	0.0:1.0:0.0:0.0	.	505;529	F8VV40;P09960	.;LKHA4_HUMAN	T	529;505	ENSP00000228740:A529T;ENSP00000449958:A505T	ENSP00000228740:A529T	A	-	1	0	LTA4H	94921775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.041000	0.57339	2.739000	0.93911	0.555000	0.69702	GCC		0.378	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		T	96397644	C	T	96397644	3	4	289	1	0	0	0	0	1	0	0	0	9071	710	25	2	262	2	LTA4H	12	96397644	Missense_Mutation	SNP	C	TCGA-B8-5551-01A-01D-1534-10	27751237	96397644	37454251	28	17179											
HIP1R	9026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123340840	123340841	+	Nonsense_Mutation	DNP	GA	GA	CT			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr12:123340840_123340841GA>CT	ENST00000253083.4	+	15	1475_1476	c.1350_1351GA>CT	c.(1348-1353)ctGAag>ctCTag	p.K451*		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	451					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)	p.L450L(1)|p.K451*(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACAACAAGCTGAAGGAAAAGCA	0.663																																																2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001587	stop_gained	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	Exception_encountered	12.37:g.123340840_123340841delinsCT	ENSP00000253083:p.Lys451*		A6NHQ6|Q6NXG8|Q9UED9	Silent|Nonsense_Mutation	SNP	ENST00000253083.4	37	CCDS31922.1																																																																																				0.663	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		CT	123340841	GA	CT	123340840	4	2	289	1	0	0	0	0	0	1	0	0	7117	1277	45	4	1408	4	HIP1R	12	123340840	Nonsense_Mutation	DNP	GA	TCGA-B8-5551-01A-01D-1534-10	26943196	123340840	10511055	29	17180											
ZNF280D	54816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56959007	56959007	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr15:56959007G>A	ENST00000267807.7	-	15	1939	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	ZNF280D_ENST00000559000.1_Missense_Mutation_p.P562S|ZNF280D_ENST00000559237.1_Missense_Mutation_p.P562S|ZNF280D_ENST00000396245.1_Missense_Mutation_p.P279S	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P575S(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTTGTATTAGGTTTACTTGCG	0.323																																																1	Substitution - Missense(1)	kidney(1)											140	145	143					15																	56959007		2192	4292	6484	SO:0001583	missense	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1723C>T	15.37:g.56959007G>A	ENSP00000267807:p.Pro575Ser		A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614969	0.14129	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03212	4.01;4.49	3.19	0.142	0.14816	.	.	.	.	.	T	0.01730	0.0055	N	0.11000	0.08	0.22866	N	0.998632	B;B	0.28378	0.209;0.209	B;B	0.20577	0.03;0.03	T	0.47749	-0.9093	9	0.27082	T	0.32	-1.1293	2.6727	0.05071	0.0962:0.1577:0.4232:0.3229	.	638;575	B4DHL1;Q6N043	.;Z280D_HUMAN	S	575;562;279	ENSP00000267807:P575S;ENSP00000379545:P279S	ENSP00000267807:P575S	P	-	1	0	ZNF280D	54746299	0.998000	0.40836	0.994000	0.49952	0.954000	0.61252	0.298000	0.19120	0.044000	0.15775	-0.218000	0.12543	CCT		0.323	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		A	56959007	G	A	56959007	3	1	289	1	0	0	0	0	1	0	0	0	17822	1261	44	2	1248	2	ZNF280D	15	56959007	Missense_Mutation	SNP	G	TCGA-B8-5551-01A-01D-1534-10		56959007	45572385	30	17181											
CCDC33	80125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	74565206	74565206	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr15:74565206C>G	ENST00000398814.3	+	7	1164	c.733C>G	c.(733-735)Cgc>Ggc	p.R245G	CCDC33_ENST00000321288.5_Missense_Mutation_p.R448G	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	448	C2.							p.R448G(1)|p.R245G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGACGTGCCTCGCGTCAGCCA	0.587																																																2	Substitution - Missense(2)	kidney(2)											116	119	118					15																	74565206		2091	4206	6297	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.733C>G	15.37:g.74565206C>G	ENSP00000381795:p.Arg245Gly		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	c	11.10	1.539522	0.27563	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.24151	1.87;2.17	4.37	4.37	0.52481	.	0.844382	0.10469	N	0.671057	T	0.31734	0.0806	L	0.48362	1.52	0.24821	N	0.992582	P;P	0.48407	0.91;0.872	P;P	0.47470	0.548;0.518	T	0.10567	-1.0624	10	0.41790	T	0.15	.	12.8226	0.57702	0.0:1.0:0.0:0.0	.	448;245	C9JFX2;Q8N5R6-6	.;.	G	448;245	ENSP00000325012:R448G;ENSP00000381795:R245G	ENSP00000325012:R448G	R	+	1	0	CCDC33	72352259	0.947000	0.32204	0.096000	0.21009	0.188000	0.23474	3.605000	0.54088	2.166000	0.68216	0.550000	0.68814	CGC		0.587	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		G	74565206	C	G	74565206	3	3	289	1	0	0	0	0	1	0	0	0	2808	884	31	4	759	4	CCDC33	15	74565206	Missense_Mutation	SNP	C	TCGA-B8-5551-01A-01D-1534-10	17606199	74565206	27966186	31	17182											
ABCC6	368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	16256866	16256866	+	Nonsense_Mutation	SNP	G	G	A	rs72653744	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr16:16256866G>A	ENST00000205557.7	-	24	3519	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1164	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		R -> Q (in PXE; autosomal recessive; dbSNP:rs63750457). {ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:17617515}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R1164*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GCCACCAGTCGCGGGAAACTG	0.547																																																1	Substitution - Nonsense(1)	kidney(1)	GRCh37	CM001603	ABCC6	M	rs72653744	G	stop/ARG	0,4394		0,0,2197	133	141	138	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3490	2	1	16	dbSNP_130	138	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	ABCC6	NM_001171.5		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1164/1504	16256866	1,12993	2197	4300	6497	SO:0001587	stop_gained	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3490C>T	16.37:g.16256866G>A	ENSP00000205557:p.Arg1164*		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Nonsense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	41	8.961498	0.99018	0.0	1.16E-4	ENSG00000091262	ENST00000205557	.	.	.	5.42	2.01	0.26516	.	0.469690	0.16852	U	0.196891	.	.	.	.	.	.	0.48696	D	0.999693	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	8.2199	0.31534	0.0:0.1644:0.2838:0.5518	.	.	.	.	X	1164	.	ENSP00000205557:R1164X	R	-	1	2	ABCC6	16164367	0.112000	0.22096	0.970000	0.41538	0.860000	0.49131	0.765000	0.26546	0.592000	0.29728	0.655000	0.94253	CGA		0.547	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			A	16256866	G	A	16256866	4	1	289	1	0	0	0	0	0	1	0	0	57	1095	38	1	1053	1	ABCC6	16	16256866	Nonsense_Mutation	SNP	G	TCGA-B8-5551-01A-01D-1534-10		16256866	74097887	32	17183											
MBTPS1	8720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84101412	84101412	+	Silent	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr16:84101412C>T	ENST00000343411.3	-	16	2583	c.2088G>A	c.(2086-2088)gtG>gtA	p.V696V	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	696					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.V696V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCTCACTGTCCACCATCAGCA	0.527																																																1	Substitution - coding silent(1)	kidney(1)											79	67	71					16																	84101412		2200	4300	6500	SO:0001819	synonymous_variant	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2088G>A	16.37:g.84101412C>T			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	CCDS10941.1																																																																																				0.527	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		T	84101412	C	T	84101412	2	4	289	1	0	0	0	0	0	0	0	1	9363	581	21	2		2	MBTPS1	16	84101412	Silent	SNP	C	TCGA-B8-5551-01A-01D-1534-10	67844546	84101412	6253341	33	17184											
SERPINF2	5345	broad.mit.edu;ucsc.edu	37	17	1650770	1650770	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:1650770A>G	ENST00000324015.3	+	7	756	c.679A>G	c.(679-681)Acc>Gcc	p.T227A	SERPINF2_ENST00000382061.4_Missense_Mutation_p.T227A|SERPINF2_ENST00000450523.2_Missense_Mutation_p.T163A	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	227					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T227A(1)		breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	GCCGGAAGACACCGTGTTGCT	0.582																																																1	Substitution - Missense(1)	kidney(1)											77	61	66					17																	1650770		2203	4300	6503	SO:0001583	missense	5345			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.679A>G	17.37:g.1650770A>G	ENSP00000321853:p.Thr227Ala		B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	A	4.299	0.054831	0.08291	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000450523;ENST00000423861;ENST00000382061	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.55	4.48	0.54585	Serpin domain (3);	0.434279	0.26457	N	0.024273	D	0.85809	0.5783	M	0.77313	2.365	0.20403	N	0.999905	B;B	0.12013	0.0;0.005	B;B	0.11329	0.001;0.006	T	0.78109	-0.2332	10	0.62326	D	0.03	.	8.8604	0.35253	0.8557:0.0:0.1443:0.0	.	163;227	B4E1B7;P08697	.;A2AP_HUMAN	A	227;227;163;163;227	ENSP00000402286:T227A;ENSP00000321853:T227A;ENSP00000403877:T163A;ENSP00000371493:T227A	ENSP00000321853:T227A	T	+	1	0	SERPINF2	1597520	0.531000	0.26338	0.041000	0.18516	0.068000	0.16541	2.706000	0.47135	0.953000	0.37825	-0.274000	0.10170	ACC		0.582	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		G	1650770	A	G	1650770	3	3	289	1	0	0	0	0	1	0	0	0	14121	159	6	3	711	3	SERPINF2	17	1650770	Missense_Mutation	SNP	A	TCGA-B8-5551-01A-01D-1534-10		1650770	79544440	34	17185											
KIAA0100	9703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26969021	26969021	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:26969021T>C	ENST00000528896.2	-	7	726	c.652A>G	c.(652-654)Act>Gct	p.T218A	KIAA0100_ENST00000544884.1_Missense_Mutation_p.T75A|KIAA0100_ENST00000389003.3_Missense_Mutation_p.T75A	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	218						extracellular region (GO:0005576)		p.T218A(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGATAGCAGTGAGATGCCGA	0.562																																																1	Substitution - Missense(1)	kidney(1)											92	80	84					17																	26969021		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.652A>G	17.37:g.26969021T>C	ENSP00000436773:p.Thr218Ala		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	T	9.002	0.980290	0.18812	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.21932	1.98;2.01	5.78	5.78	0.91487	FMP27, N-terminal (1);	0.290003	0.41097	D	0.000941	T	0.10809	0.0264	N	0.14661	0.345	0.21897	N	0.999486	B;B;B	0.18968	0.032;0.001;0.001	B;B;B	0.16289	0.015;0.003;0.007	T	0.20571	-1.0271	10	0.25106	T	0.35	.	5.8239	0.18542	0.0:0.0873:0.1706:0.7421	.	75;218;218	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	A	218;218;218;75	ENSP00000436773:T218A;ENSP00000446443:T75A	ENSP00000005905:T218A	T	-	1	0	KIAA0100	23993148	0.999000	0.42202	0.946000	0.38457	0.534000	0.34807	1.681000	0.37618	2.205000	0.71048	0.533000	0.62120	ACT		0.562	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		C	26969021	T	C	26969021	3	2	289	1	0	0	0	0	1	0	0	0	8156	1696	59	3	6187	3	KIAA0100	17	26969021	Missense_Mutation	SNP	T	TCGA-B8-5551-01A-01D-1534-10	25318251	26969021	54226189	35	17186											
MYO18A	399687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27409435	27409435	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:27409435G>T	ENST00000527372.1	-	41	6099	c.5919C>A	c.(5917-5919)gaC>gaA	p.D1973E	MYO18A_ENST00000533112.1_Missense_Mutation_p.D1921E|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.D1973E|MYO18A_ENST00000531253.1_Missense_Mutation_p.D1958E	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1973					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.D1973E(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCAGCTCCGAGTCCACATCAG	0.562																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											2	Substitution - Missense(2)	kidney(2)											53	52	53					17																	27409435		2055	4209	6264	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5919C>A	17.37:g.27409435G>T	ENSP00000437073:p.Asp1973Glu		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.064508|4.064508	0.76187|0.76187	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105|ENST00000527859	D;D;D;D|.	0.89552|.	-2.28;-2.53;-2.39;-2.28|.	5.83|5.83	2.79|2.79	0.32731|0.32731	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43411|0.43411	0.1246|0.1246	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.996;1.0;1.0;0.999|.	D;D;D;D|.	0.83275|.	0.99;0.996;0.996;0.991|.	T|T	0.21280|0.21280	-1.0250|-1.0250	10|5	0.18710|.	T|.	0.47|.	.|.	9.5587|9.5587	0.39355|0.39355	0.2621:0.0:0.7379:0.0|0.2621:0.0:0.7379:0.0	.|.	1561;1921;1958;1973|.	F8W6Y3;Q92614-3;Q92614-4;Q92614|.	.;.;.;MY18A_HUMAN|.	E|N	1973;1921;1921;1958;1973;854;854;1561;239|221	ENSP00000346291:D1973E;ENSP00000435932:D1921E;ENSP00000434228:D1958E;ENSP00000437073:D1973E|.	ENSP00000346291:D1973E|.	D|T	-|-	3|2	2|0	MYO18A|MYO18A	24433561|24433561	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.276000|1.276000	0.33156|0.33156	1.469000|1.469000	0.48083|0.48083	-0.137000|-0.137000	0.14449|0.14449	GAC|ACT		0.562	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		T	27409435	G	T	27409435	3	4	289	1	0	0	0	0	1	0	0	0	10067	1020	36	4	253	4	MYO18A	17	27409435	Missense_Mutation	SNP	G	TCGA-B8-5551-01A-01D-1534-10	440414	27409435	53785775	36	17187											
UNC45B	146862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33513509	33513509	+	Silent	SNP	A	A	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:33513509A>G	ENST00000268876.5	+	20	2824	c.2727A>G	c.(2725-2727)gaA>gaG	p.E909E	UNC45B_ENST00000378449.1_Silent_p.E828E|RP11-799D4.2_ENST00000590144.1_RNA|UNC45B_ENST00000394570.2_Silent_p.E907E|UNC45B_ENST00000433649.1_Silent_p.E907E|UNC45B_ENST00000591048.1_Silent_p.E828E	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	909					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E909E(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGAAGGCAGAAGTGGTTCAGA	0.537																																																1	Substitution - coding silent(1)	kidney(1)											146	118	128					17																	33513509		2203	4300	6503	SO:0001819	synonymous_variant	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2727A>G	17.37:g.33513509A>G			Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																				0.537	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		G	33513509	A	G	33513509	2	3	289	1	0	0	0	0	0	0	0	1	16994	69	3	3		3	UNC45B	17	33513509	Silent	SNP	A	TCGA-B8-5551-01A-01D-1534-10	6104074	33513509	47681701	37	17188											
KAT2A	2648	hgsc.bcm.edu	37	17	40270030	40270068	+	Splice_Site	DEL	CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	-	rs35478347|rs202225093|rs72232846|rs386797146|rs58992933|rs146062629|rs140809269|rs200290136|rs73986523	byFrequency	TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:40270030_40270068delCTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	ENST00000225916.5	-	8	1234_1239	c.1181_1186delCCCCCCATCCCTGACGTCTCTCTCTCTCCTCAGCTTCAG	c.(1180-1188)gccccccat>gat	p.394_396APH>D		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	394					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTGCACTGACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGGCTGAAGCTGA	0.611																																																0																																										SO:0001630	splice_region_variant	2648			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1181-1CCCCCCATCCCTGACGTCTCTCTCTCTCCTCAGCTTCAG>-	17.37:g.40270030_40270068delCTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG			Q8N1A2|Q9UCW1	Frame_Shift_Del	DEL	ENST00000225916.5	37	CCDS11417.1																																																																																				0.611	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078	In_Frame_Del	-	40270068	CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	-	40270030	8	5	289	1	0	1	0	1	0	0	1	0	7983	565	20	0	1371	0	KAT2A	17	40270030	Splice_Site	DEL	CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	TCGA-B8-5551-01A-01D-1534-10	6756521	40270030	40925180	38	17189											
GPATCH8	23131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42476348	42476348	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr17:42476348A>G	ENST00000591680.1	-	8	3127	c.3097T>C	c.(3097-3099)Tcc>Ccc	p.S1033P	GPATCH8_ENST00000434000.1_Missense_Mutation_p.S955P	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1033							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S1033P(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGGACTGGGAGCGGTAGATC	0.557																																																1	Substitution - Missense(1)	kidney(1)											62	59	60					17																	42476348		2203	4300	6503	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3097T>C	17.37:g.42476348A>G	ENSP00000467556:p.Ser1033Pro		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723553	0.68959	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.16897	2.31	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	L	0.32530	0.975	0.58432	D	0.99999	D	0.76494	0.999	D	0.83275	0.996	T	0.02121	-1.1210	10	0.44086	T	0.13	-14.4698	15.2256	0.73348	1.0:0.0:0.0:0.0	.	1033	Q9UKJ3	GPTC8_HUMAN	P	1033;955	ENSP00000395016:S955P	ENSP00000335486:S1033P	S	-	1	0	GPATCH8	39831874	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.529000	0.90602	2.190000	0.69967	0.454000	0.30748	TCC		0.557	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		G	42476348	A	G	42476348	3	3	289	1	0	0	0	0	1	0	0	0	6596	304	11	3	1415	3	GPATCH8	17	42476348	Missense_Mutation	SNP	A	TCGA-B8-5551-01A-01D-1534-10	2206318	42476348	38718862	39	17190											
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	6983124	6983124	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr18:6983124G>T	ENST00000389658.3	-	40	5863	c.5770C>A	c.(5770-5772)Cac>Aac	p.H1924N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1924	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.H1924N(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACAGTCCTGTGAGCATCTCTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											112	104	107					18																	6983124		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5770C>A	18.37:g.6983124G>T	ENSP00000374309:p.His1924Asn			Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	7.960	0.746662	0.15710	.	.	ENSG00000101680	ENST00000389658	T	0.16073	2.37	5.87	4.06	0.47325	.	0.992252	0.08196	N	0.983124	T	0.10852	0.0265	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38607	-0.9653	10	0.15952	T	0.53	.	3.8731	0.09045	0.1224:0.1464:0.5803:0.1509	.	1924	P25391	LAMA1_HUMAN	N	1924	ENSP00000374309:H1924N	ENSP00000374309:H1924N	H	-	1	0	LAMA1	6973124	0.266000	0.24112	0.014000	0.15608	0.024000	0.10985	1.538000	0.36094	1.468000	0.48064	0.650000	0.86243	CAC		0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	6983124	G	T	6983124	3	4	289	1	0	0	0	0	1	0	0	0	8607	1290	45	4	3553	4	LAMA1	18	6983124	Missense_Mutation	SNP	G	TCGA-B8-5551-01A-01D-1534-10		6983124	71094124	40	17191											
OR10H1	26539	broad.mit.edu;hgsc.bcm.edu	37	19	15918103	15918103	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr19:15918103C>G	ENST00000334920.2	-	1	833	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V249L(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGCACGACCACCACAGTGAGG	0.557																																																1	Substitution - Missense(1)	kidney(1)											84	66	72					19																	15918103		2203	4298	6501	SO:0001583	missense	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.745G>C	19.37:g.15918103C>G	ENSP00000335596:p.Val249Leu		Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	.	12.83	2.055911	0.36277	.	.	ENSG00000186723	ENST00000334920	T	0.00355	7.91	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000407	T	0.00998	0.0033	M	0.87456	2.885	0.30110	N	0.806645	D	0.89917	1.0	D	0.91635	0.999	T	0.14254	-1.0479	10	0.72032	D	0.01	.	15.6789	0.77352	0.0:1.0:0.0:0.0	.	249	Q9Y4A9	O10H1_HUMAN	L	249	ENSP00000335596:V249L	ENSP00000335596:V249L	V	-	1	0	OR10H1	15779103	0.890000	0.30428	0.929000	0.37066	0.018000	0.09664	1.826000	0.39092	2.286000	0.76751	0.643000	0.83706	GTG		0.557	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			G	15918103	C	G	15918103	3	3	289	1	0	0	0	0	1	0	0	0	10907	507	18	4	215	4	OR10H1	19	15918103	Missense_Mutation	SNP	C	TCGA-B8-5551-01A-01D-1534-10		15918103	43210880	41	17192											
ZNF790	388536	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37314189	37314189	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr19:37314189G>T	ENST00000356725.4	-	4	347	c.227C>A	c.(226-228)cCa>cAa	p.P76Q	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P76Q(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACTCACCTGGGCAAGGTCC	0.493																																																1	Substitution - Missense(1)	kidney(1)											72	57	62					19																	37314189		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.227C>A	19.37:g.37314189G>T	ENSP00000349161:p.Pro76Gln			Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198239	0.38806	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.06768	3.26;6.03;5.71	3.75	1.53	0.23141	Krueppel-associated box (1);	.	.	.	.	T	0.11537	0.0281	M	0.71581	2.175	0.19300	N	0.999976	B	0.34015	0.435	B	0.36289	0.221	T	0.17684	-1.0361	9	0.56958	D	0.05	.	6.6887	0.23160	0.205:0.0:0.795:0.0	.	76	Q6PG37	ZN790_HUMAN	Q	76	ENSP00000349161:P76Q;ENSP00000435944:P76Q;ENSP00000433389:P76Q	ENSP00000349161:P76Q	P	-	2	0	ZNF790	42006029	0.928000	0.31464	0.297000	0.24988	0.633000	0.38033	1.321000	0.33678	0.368000	0.24481	0.585000	0.79938	CCA		0.493	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		T	37314189	G	T	37314189	3	4	289	1	0	0	0	0	1	0	0	0	18167	1348	47	4	1691	4	ZNF790	19	37314189	Missense_Mutation	SNP	G	TCGA-B8-5551-01A-01D-1534-10	21396086	37314189	21814794	42	17193											
LMTK3	114783	broad.mit.edu	37	19	48994751	48994751	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr19:48994751delC	ENST00000600059.1	-	13	4365	c.4138delG	c.(4138-4140)gacfs	p.D1380fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.D1409fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1380	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGGTCCGTGTCCCCCTCGGGG	0.662																																																0													5	7	6					19																	48994751		1750	3910	5660	SO:0001589	frameshift_variant	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4138delG	19.37:g.48994751delC	ENSP00000472020:p.Asp1380fs		Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37																																																																																					0.662	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		-	48994751	C	-	48994751	7	5	289	1	0	1	0	1	0	0	0	0	8862	855	30	0	256	0	LMTK3	19	48994751	Frame_Shift_Del	DEL	C	TCGA-B8-5551-01A-01D-1534-10	11680562	48994751	10134232	43	17194											
CLDND2	125875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51870775	51870775	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr19:51870775G>C	ENST00000291715.1	-	3	791	c.366C>G	c.(364-366)aaC>aaG	p.N122K	CTD-2616J11.11_ENST00000600067.1_Intron|CLDND2_ENST00000601435.1_Missense_Mutation_p.N122K|ETFB_ENST00000309244.4_5'Flank|CTD-2616J11.10_ENST00000595500.1_RNA	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	122						integral component of membrane (GO:0016021)		p.N122K(1)		endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAAGACGTTGTTCTTCCACG	0.582																																																1	Substitution - Missense(1)	kidney(1)											71	72	72					19																	51870775		2203	4300	6503	SO:0001583	missense	125875			BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.366C>G	19.37:g.51870775G>C	ENSP00000291715:p.Asn122Lys			Missense_Mutation	SNP	ENST00000291715.1	37	CCDS12829.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167785	0.38315	.	.	ENSG00000160318	ENST00000291715	D	0.88201	-2.35	4.41	-6.78	0.01721	.	1.675620	0.03389	N	0.201606	T	0.81264	0.4786	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.68288	-0.5448	10	0.05620	T	0.96	-0.0014	9.0529	0.36387	0.0:0.5363:0.2103:0.2534	.	122	Q8NHS1	CLDN2_HUMAN	K	122	ENSP00000291715:N122K	ENSP00000291715:N122K	N	-	3	2	CLDND2	56562587	0.000000	0.05858	0.063000	0.19743	0.852000	0.48524	-0.846000	0.04336	-0.402000	0.07633	0.491000	0.48974	AAC		0.582	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464268.1	NM_152353		C	51870775	G	C	51870775	3	2	289	1	0	0	0	0	1	0	0	0	3496	1368	48	4	145	4	CLDND2	19	51870775	Missense_Mutation	SNP	G	TCGA-B8-5551-01A-01D-1534-10	2876024	51870775	7258208	44	17195											
RPL28	6158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55899365	55899365	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr19:55899365C>G	ENST00000344063.2	+	4	902	c.273C>G	c.(271-273)agC>agG	p.S91R	RPL28_ENST00000558815.1_Missense_Mutation_p.S91R|RPL28_ENST00000558131.1_Missense_Mutation_p.A85G|RPL28_ENST00000458349.2_Missense_Mutation_p.S91R|RPL28_ENST00000560055.1_Missense_Mutation_p.S91R|RPL28_ENST00000560583.1_Missense_Mutation_p.S91R|RPL28_ENST00000559463.1_Missense_Mutation_p.S91R			P46779	RL28_HUMAN	ribosomal protein L28	91					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.S91R(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CCACGCTCAGCAGCATCAGAC	0.622																																																2	Substitution - Missense(2)	kidney(2)											97	87	90					19																	55899365		2203	4300	6503	SO:0001583	missense	6158			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.273C>G	19.37:g.55899365C>G	ENSP00000342787:p.Ser91Arg		B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756061	0.49362	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000458349	T;T	0.41758	0.99;0.99	3.44	2.38	0.29361	.	0.256089	0.40554	N	0.001069	T	0.33990	0.0882	L	0.46157	1.445	0.41917	D	0.99049	B;B;B	0.33612	0.419;0.419;0.01	B;B;B	0.37267	0.178;0.245;0.027	T	0.06463	-1.0825	10	0.21540	T	0.41	.	9.2424	0.37504	0.0:0.8839:0.0:0.1161	.	91;91;91	B4DEP9;E9PB24;P46779	.;.;RL28_HUMAN	R	91	ENSP00000342787:S91R;ENSP00000401450:S91R	ENSP00000342787:S91R	S	+	3	2	RPL28	60591177	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	3.479000	0.53165	0.732000	0.32470	0.462000	0.41574	AGC		0.622	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		G	55899365	C	G	55899365	3	3	289	1	0	0	0	0	1	0	0	0	13583	709	25	4	351	4	RPL28	19	55899365	Missense_Mutation	SNP	C	TCGA-B8-5551-01A-01D-1534-10	4028590	55899365	3229618	45	17196											
PLCB4	5332	broad.mit.edu;hgsc.bcm.edu	37	20	9318701	9318701	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr20:9318701G>T	ENST00000378493.1	+	3	227	c.212G>T	c.(211-213)gGa>gTa	p.G71V	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.G71V|PLCB4_ENST00000278655.4_Missense_Mutation_p.G71V|PLCB4_ENST00000334005.3_Missense_Mutation_p.G71V|PLCB4_ENST00000414679.2_Missense_Mutation_p.G71V|PLCB4_ENST00000378473.3_Missense_Mutation_p.G71V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	71					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.G71V(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTCGGTCGGGAGCCATACCA	0.408																																																1	Substitution - Missense(1)	kidney(1)											131	100	110					20																	9318701		2203	4300	6503	SO:0001583	missense	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.212G>T	20.37:g.9318701G>T	ENSP00000367754:p.Gly71Val		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168512	0.78339	.	.	ENSG00000101333	ENST00000407043;ENST00000441846;ENST00000334005;ENST00000378473;ENST00000437503;ENST00000278655;ENST00000378493;ENST00000378501	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.78	4.81	0.61882	Pleckstrin homology-type (1);	0.105878	0.64402	D	0.000005	D	0.91637	0.7357	M	0.85197	2.74	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.998	D;P;D	0.70487	0.966;0.808;0.969	D	0.93103	0.6510	10	0.87932	D	0	.	16.4929	0.84207	0.0:0.1353:0.8647:0.0	.	71;71;71	E2QRH8;Q15147;Q15147-4	.;PLCB4_HUMAN;.	V	71	ENSP00000385805:G71V;ENSP00000412982:G71V;ENSP00000334105:G71V;ENSP00000367734:G71V;ENSP00000391614:G71V;ENSP00000278655:G71V;ENSP00000367754:G71V;ENSP00000367762:G71V	ENSP00000278655:G71V	G	+	2	0	PLCB4	9266701	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.721000	0.74728	1.422000	0.47177	0.655000	0.94253	GGA		0.408	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			T	9318701	G	T	9318701	3	4	289	1	0	0	0	0	1	0	0	0	12032	1174	41	4	222	4	PLCB4	20	9318701	Missense_Mutation	SNP	G	TCGA-B8-5551-01A-01D-1534-10		9318701	53706819	46	17197											
C20orf103	24141	broad.mit.edu;hgsc.bcm.edu	37	20	9495509	9495509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chr20:9495509C>T	ENST00000246070.2	+	1	502	c.10C>T	c.(10-12)Caa>Taa	p.Q4*	LAMP5_ENST00000427562.2_Nonsense_Mutation_p.Q4*|RP5-1119D9.4_ENST00000443469.1_RNA	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	4						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.Q4*(1)									TATGGATCTCCAAGGAAGAGG	0.612																																																1	Substitution - Nonsense(1)	kidney(1)											87	68	75					20																	9495509		2203	4300	6503	SO:0001587	stop_gained	0			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"brain and dendritic cell associated LAMP"	614641	"chromosome 20 open reading frame 103"	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.10C>T	20.37:g.9495509C>T	ENSP00000246070:p.Gln4*		B4DHZ7|B7Z9Z9	Nonsense_Mutation	SNP	ENST00000246070.2	37	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	38	7.059469	0.98036	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	.	.	.	5.84	3.76	0.43208	.	0.542099	0.19920	N	0.103114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0141	10.4635	0.44594	0.4288:0.5712:0.0:0.0	.	.	.	.	X	4	.	.	Q	+	1	0	C20orf103	9443509	0.611000	0.26992	0.887000	0.34795	0.151000	0.21798	0.832000	0.27490	1.463000	0.47967	0.655000	0.94253	CAA		0.612	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		T	9495509	C	T	9495509	4	4	289	1	0	0	0	0	0	1	0	0	2077	595	21	2	12	2	C20orf103	20	9495509	Nonsense_Mutation	SNP	C	TCGA-B8-5551-01A-01D-1534-10	176808	9495509	53530011	47	17198											
VCX3B	425054	hgsc.bcm.edu	37	X	8434287	8434316	+	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA	-	rs377669206|rs369681806|rs374799202		TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chrX:8434287_8434316delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENST00000381032.1	+	3	911_940	c.604_633delGAACCACTGAGTCAGGAGAGCGAGATGGAA	c.(604-633)gaaccactgagtcaggagagcgagatggaadel	p.EPLSQESEME202del	VCX3B_ENST00000444481.1_In_Frame_Del_p.EPLSQESEME172del|VCX3B_ENST00000381029.4_In_Frame_Del_p.EPLSQESEME170del|VCX3B_ENST00000440654.2_In_Frame_Del_p.EPLSQESEME152del|VCX3B_ENST00000453306.1_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	202	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)		p.M180V(2)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGA	0.565																																																2	Substitution - Missense(2)	prostate(1)|skin(1)																																								SO:0001651	inframe_deletion	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.604_633delGAACCACTGAGTCAGGAGAGCGAGATGGAA	X.37:g.8434287_8434316delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENSP00000370420:p.Glu202_Glu211del		C9JS46|Q4KN12	In_Frame_Del	DEL	ENST00000381032.1	37	CCDS48077.2																																																																																				0.565	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			-	8434316	GAACCACTGAGTCAGGAGAGCGAGATGGAA	-	8434287	7	5	289	1	0	1	0	1	0	0	0	0	17150	1175	41	0	524	0	VCX3B	23	8434287	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCGAGATGGAA	TCGA-B8-5551-01A-01D-1534-10		8434287	146836273	48	17199											
ALG13	79868	broad.mit.edu;hgsc.bcm.edu	37	X	110987973	110987973	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chrX:110987973C>A	ENST00000394780.3	+	24	2785	c.2773C>A	c.(2773-2775)Cca>Aca	p.P925T	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	925	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.P925T(1)		endometrium(2)|lung(10)|skin(1)	13						accaccaccaccaccaccacc	0.527																																																1	Substitution - Missense(1)	kidney(1)											23	16	19					X																	110987973		1521	3482	5003	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2773C>A	X.37:g.110987973C>A	ENSP00000378260:p.Pro925Thr		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	c	7.704	0.693660	0.15039	.	.	ENSG00000101901	ENST00000394780	T	0.12039	2.72	2.8	1.91	0.25777	.	.	.	.	.	T	0.12774	0.0310	L	0.36672	1.1	0.09310	N	1	B;B	0.28552	0.215;0.069	B;B	0.38156	0.266;0.076	T	0.38329	-0.9666	9	0.34782	T	0.22	.	5.3481	0.16020	0.0:0.8261:0.0:0.1739	.	847;925	Q9NP73-3;Q9NP73	.;ALG13_HUMAN	T	925	ENSP00000378260:P925T	ENSP00000378260:P925T	P	+	1	0	ALG13	110874629	0.000000	0.05858	0.002000	0.10522	0.047000	0.14425	0.119000	0.15626	0.415000	0.25817	0.271000	0.19318	CCA		0.527	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		A	110987973	C	A	110987973	3	1	289	1	0	0	0	0	1	0	0	0	515	507	18	4	3009	4	ALG13	23	110987973	Missense_Mutation	SNP	C	TCGA-B8-5551-01A-01D-1534-10	102553686	110987973	44282587	49	17200											
NKRF	55922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	118724876	118724876	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chrX:118724876T>A	ENST00000371527.1	-	2	1164	c.512A>T	c.(511-513)cAg>cTg	p.Q171L	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.Q171L|NKRF_ENST00000542113.1_Missense_Mutation_p.Q186L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	171	Active repression domain.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q186L(1)|p.Q171L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AATAAAATACTGCTTCTCGGC	0.413																																																2	Substitution - Missense(2)	kidney(2)											76	75	75					X																	118724876		2203	4300	6503	SO:0001583	missense	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.512A>T	X.37:g.118724876T>A	ENSP00000360582:p.Gln171Leu		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430086	0.62844	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.59638	0.26;0.26;0.25	5.69	5.69	0.88448	.	0.116813	0.64402	D	0.000014	T	0.53546	0.1803	N	0.24115	0.695	0.80722	D	1	D	0.53151	0.958	P	0.50082	0.63	T	0.59537	-0.7436	10	0.72032	D	0.01	-10.9531	14.0269	0.64590	0.0:0.0:0.0:1.0	.	171	O15226	NKRF_HUMAN	L	171;171;186	ENSP00000360582:Q171L;ENSP00000304803:Q171L;ENSP00000442308:Q186L	ENSP00000304803:Q171L	Q	-	2	0	NKRF	118608904	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.222000	0.78025	1.910000	0.55303	0.481000	0.45027	CAG		0.413	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		A	118724876	T	A	118724876	3	1	289	1	0	0	0	0	1	0	0	0	10449	1580	55	5	1564	5	NKRF	23	118724876	Missense_Mutation	SNP	T	TCGA-B8-5551-01A-01D-1534-10	7736903	118724876	36545684	50	17201											
L1CAM	3897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153129373	153129373	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5551-01A-01D-1534-10	TCGA-B8-5551-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7bc35fa0-0102-4ecb-92eb-9ebc4d1c3ec4	bd598451-8008-4df9-8668-7de1749665a5	g.chrX:153129373C>A	ENST00000370060.1	-	26	3611	c.3422G>T	c.(3421-3423)tGc>tTc	p.C1141F	L1CAM_ENST00000543994.1_Missense_Mutation_p.C1143F|L1CAM_ENST00000538883.1_Missense_Mutation_p.C1143F|L1CAM_ENST00000361981.3_Missense_Mutation_p.C1136F|L1CAM_ENST00000361699.4_Missense_Mutation_p.C1141F|L1CAM_ENST00000370057.3_Missense_Mutation_p.C1141F|L1CAM_ENST00000370055.1_Missense_Mutation_p.C1136F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1141					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.C1141F(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGATGAAGCAGAGGATGAG	0.642																																																1	Substitution - Missense(1)	kidney(1)											91	70	77					X																	153129373		2203	4300	6503	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3422G>T	X.37:g.153129373C>A	ENSP00000359077:p.Cys1141Phe		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155687	0.57259	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.28;-0.25;-0.25;-0.29	4.11	4.11	0.48088	.	0.000000	0.64402	D	0.000014	T	0.79947	0.4534	M	0.73372	2.23	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.994;0.966;0.995	T	0.83037	-0.0159	10	0.87932	D	0	.	14.4461	0.67349	0.0:1.0:0.0:0.0	.	1136;1141;1141	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	F	1141;1143;1141;1143;1136;1136;1141	ENSP00000359077:C1141F;ENSP00000438430:C1143F;ENSP00000359074:C1141F;ENSP00000439645:C1143F;ENSP00000354712:C1136F;ENSP00000359072:C1136F;ENSP00000355380:C1141F	ENSP00000355380:C1141F	C	-	2	0	L1CAM	152782567	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	7.521000	0.81832	1.899000	0.54978	0.529000	0.55759	TGC		0.642	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		A	153129373	C	A	153129373	3	1	289	1	0	0	0	0	1	0	0	0	8590	710	25	4	367	4	L1CAM	23	153129373	Missense_Mutation	SNP	C	TCGA-B8-5551-01A-01D-1534-10	34404497	153129373	2141187	51	17202											
LCLAT1	253558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	30756119	30756119	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr2:30756119T>A	ENST00000309052.4	+	4	626	c.417T>A	c.(415-417)taT>taA	p.Y139*	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000319406.4_Nonsense_Mutation_p.Y139*|LCLAT1_ENST00000359433.1_Nonsense_Mutation_p.Y139*|LCLAT1_ENST00000379509.3_Nonsense_Mutation_p.Y101*|LCLAT1_ENST00000540623.1_Nonsense_Mutation_p.Y101*	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	139					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.Y139*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TGATGCGATATAGCTACCTCA	0.408																																																1	Substitution - Nonsense(1)	kidney(1)											218	212	214					2																	30756119		2203	4300	6503	SO:0001587	stop_gained	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.417T>A	2.37:g.30756119T>A	ENSP00000310551:p.Tyr139*		A6H8Z7|Q8N1Q7	Nonsense_Mutation	SNP	ENST00000309052.4	37	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.462231	0.26248	.	.	ENSG00000172954	ENST00000466477;ENST00000465200;ENST00000379509;ENST00000444270;ENST00000319406;ENST00000488144;ENST00000465538;ENST00000309052;ENST00000359433;ENST00000540623;ENST00000476038;ENST00000497423;ENST00000476535	.	.	.	5.51	-1.79	0.07932	.	0.055575	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5573	12.0165	0.53317	0.0:0.4954:0.0:0.5046	.	.	.	.	X	101;101;101;101;139;101;101;139;139;101;101;139;101	.	ENSP00000310551:Y139X	Y	+	3	2	LCLAT1	30609623	0.971000	0.33674	0.990000	0.47175	0.010000	0.07245	0.193000	0.17116	-0.217000	0.10033	-1.007000	0.02485	TAT		0.408	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		A	30756119	T	A	30756119	4	1	290	1	0	0	0	0	0	1	0	0	8679	1413	49	5	427	5	LCLAT1	2	30756119	Nonsense_Mutation	SNP	T	TCGA-B8-5552-01B-11D-1669-08		30756119	212443254	1	17203											
CCDC75	253635	broad.mit.edu;ucsc.edu	37	2	37315582	37315582	+	Splice_Site	SNP	C	C	T			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr2:37315582C>T	ENST00000608836.1	+	2	191	c.46C>T	c.(46-48)Caa>Taa	p.Q16*	GPATCH11_ENST00000409774.1_Splice_Site_p.Q42*|GPATCH11_ENST00000281932.5_Splice_Site_p.S2S	NM_174931.2	NP_777591.3	Q8N954	GPT11_HUMAN	G patch domain containing 11	16							nucleic acid binding (GO:0003676)	p.S2S(1)|p.Q16*(1)									CATTAATGTCCAGTAAGTAAA	0.274																																																2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)											64	65	65					2																	37315582		2203	4300	6503	SO:0001630	splice_region_variant	253635			AK095667	CCDS1785.2, CCDS62891.1, CCDS1785.3	2p22.2	2013-11-05	2013-01-28	2013-01-28	ENSG00000152133	ENSG00000152133		"G patch domain containing"	26768	protein-coding gene	gene with protein product	"centromere protein Y"		"coiled-coil domain containing 75"	CCDC75			Standard	NM_001278505		Approved	FLJ38348, CENPY, CENP-Y	uc010ezz.3	Q8N954	OTTHUMG00000128469	ENST00000608836.1:c.47+1C>T	2.37:g.37315582C>T			A8K0D9|B7Z2G4|B8ZZ44	Nonsense_Mutation	SNP	ENST00000608836.1	37	CCDS1785.2	.	.	.	.	.	.	.	.	.	.	C	37	6.098528	0.97281	.	.	ENSG00000152133	ENST00000409774	.	.	.	5.42	4.46	0.54185	.	0.382752	0.28700	N	0.014433	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-30.8317	15.1478	0.72671	0.1858:0.8141:0.0:0.0	.	.	.	.	X	16	.	ENSP00000386772:Q16X	Q	+	1	0	CCDC75	37169086	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	0.787000	0.26858	2.537000	0.85549	0.561000	0.74099	CAA		0.274	GPATCH11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_174931	Nonsense_Mutation	T	37315582	C	T	37315582	5	4	290	1	0	0	0	0	0	0	1	0	2851	608	21	2	48	2	CCDC75	2	37315582	Splice_Site	SNP	C	TCGA-B8-5552-01B-11D-1669-08	6559463	37315582	205883791	2	17204											
APLF	200558	hgsc.bcm.edu	37	2	68805143	68805143	+	Frame_Shift_Del	DEL	A	A	-	rs149897324	byFrequency	TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr2:68805143delA	ENST00000303795.4	+	10	1696	c.1525delA	c.(1525-1527)aaafs	p.K509fs	APLF_ENST00000471727.1_Intron	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	509					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AAGGTTTATGAAAAGAAAATA	0.358													AAAA|AAAA|AAA|deletion	23	0.00459265	0.0008	0.0058	5008	,	,		20808	0.0		0.0119	False		,,,				2504	0.0061															0										15,4251		0,15,2118	68	74	72			2.8	1	2	dbSNP_134	73	121,8127		3,115,4006	no	frameshift	APLF	NM_173545.2		3,130,6124	A1A1,A1R,RR		1.467,0.3516,1.0868			68805143	136,12378	2203	4299	6502	SO:0001589	frameshift_variant	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1525delA	2.37:g.68805143delA	ENSP00000307004:p.Lys509fs		A8K476|Q53P47|Q53PB9|Q53QU0	Frame_Shift_Del	DEL	ENST00000303795.4	37	CCDS1888.1																																																																																				0.358	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		-	68805143	A	-	68805143	7	5	290	1	0	1	0	1	0	0	0	0	776	247	9	0	1563	0	APLF	2	68805143	Frame_Shift_Del	DEL	A	TCGA-B8-5552-01B-11D-1669-08	31489561	68805143	174394230	3	17205											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179614716	179614716	+	Intron	SNP	A	A	G			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr2:179614716A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Silent_p.D4137D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			GAGTAACTTGATCTTGAGGCA	0.378																																																0													89	91	91					2																	179614716		2203	4299	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3134T>C	2.37:g.179614716A>G			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179614716	A	G	179614716	1	3	290	0	1	0	0	0	0	0	0	0	16740	330	12	3		3	TTN	2	179614716	Intron	SNP	A	TCGA-B8-5552-01B-11D-1669-08	110809573	179614716	63584657	4	17206											
XPC	7508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	14214467	14214467	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr3:14214467C>A	ENST00000285021.7	-	2	413	c.199G>T	c.(199-201)Gca>Tca	p.A67S	XPC_ENST00000449060.2_Missense_Mutation_p.A67S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	67	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.A67S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGACCATCTGCTGAACCCCCA	0.473			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"xeroderma pigmentosum, complementation group C"		E	1	Substitution - Missense(1)	kidney(1)											105	99	101					3																	14214467		1882	4113	5995	SO:0001583	missense	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.199G>T	3.37:g.14214467C>A	ENSP00000285021:p.Ala67Ser		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275419	0.40294	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.59083	0.29;0.29;0.29	5.13	-0.174	0.13319	.	0.538685	0.16632	N	0.206021	T	0.42585	0.1209	L	0.57536	1.79	0.09310	N	1	B;B	0.34103	0.437;0.278	B;B	0.25140	0.055;0.058	T	0.23511	-1.0186	10	0.39692	T	0.17	-2.41	4.8696	0.13625	0.0:0.4281:0.2948:0.2771	.	67;67	E9PH69;Q01831	.;XPC_HUMAN	S	67;67;61	ENSP00000285021:A67S;ENSP00000404002:A67S;ENSP00000423867:A61S	ENSP00000285021:A67S	A	-	1	0	XPC	14189471	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.038000	0.12144	0.168000	0.19655	0.655000	0.94253	GCA		0.473	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		A	14214467	C	A	14214467	3	1	290	1	0	0	0	0	1	0	0	0	17446	797	28	4	1632	4	XPC	3	14214467	Missense_Mutation	SNP	C	TCGA-B8-5552-01B-11D-1669-08		14214467	183807963	5	17207											
RFTN1	23180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	16475443	16475443	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr3:16475443G>A	ENST00000334133.4	-	3	519	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	RFTN1_ENST00000432519.1_Missense_Mutation_p.H47Y	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	83					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.H83N(1)|p.H83Y(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ACGAAGGGGTGCAGGGCCGCC	0.652																																																2	Substitution - Missense(2)	prostate(1)|kidney(1)											55	63	60					3																	16475443		2203	4300	6503	SO:0001583	missense	23180			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.247C>T	3.37:g.16475443G>A	ENSP00000334153:p.His83Tyr		Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571698	0.86542	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36	5.21	5.21	0.72293	.	0.168700	0.52532	D	0.000065	T	0.75213	0.3819	M	0.79926	2.475	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;P	0.87578	0.998;0.892	T	0.79160	-0.1918	10	0.87932	D	0	-15.9704	18.3868	0.90469	0.0:0.0:1.0:0.0	.	47;83	G3XAJ6;Q14699	.;RFTN1_HUMAN	Y	47;83;83;83;83;83	ENSP00000403926:H47Y;ENSP00000334153:H83Y;ENSP00000403997:H83Y;ENSP00000409427:H83Y;ENSP00000388718:H83Y;ENSP00000393216:H83Y	ENSP00000334153:H83Y	H	-	1	0	RFTN1	16450447	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.578000	0.90777	2.433000	0.82419	0.561000	0.74099	CAC		0.652	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		A	16475443	G	A	16475443	3	1	290	1	0	0	0	0	1	0	0	0	13264	1319	46	2	1521	2	RFTN1	3	16475443	Missense_Mutation	SNP	G	TCGA-B8-5552-01B-11D-1669-08	2260976	16475443	181546987	6	17208											
DZIP1L	199221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	137813726	137813726	+	Missense_Mutation	SNP	G	G	A	rs148594666		TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr3:137813726G>A	ENST00000327532.2	-	4	1048	c.686C>T	c.(685-687)gCg>gTg	p.A229V	DZIP1L_ENST00000488595.1_5'Flank|DZIP1L_ENST00000469243.1_Missense_Mutation_p.A229V	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	229					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.A229V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTGCCTCTCCGCCTCCCTCTG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18688	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	VAL/ALA,VAL/ALA	5,4401	11.4+/-27.6	0,5,2198	165	150	155		686,686	4	0.9	3	dbSNP_134	155	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	DZIP1L	NM_001170538.1,NM_173543.2	64,64	0,7,6496	AA,AG,GG		0.0233,0.1135,0.0538	probably-damaging,probably-damaging	229/540,229/768	137813726	7,12999	2203	4300	6503	SO:0001583	missense	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.686C>T	3.37:g.137813726G>A	ENSP00000332148:p.Ala229Val		C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	CCDS3096.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	19.38	3.817106	0.70912	0.001135	2.33E-4	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.61742	0.08;0.08	4.85	3.98	0.46160	.	0.373900	0.23975	N	0.042735	T	0.65112	0.2660	M	0.77820	2.39	0.31129	N	0.707908	D;D	0.63046	0.992;0.983	P;B	0.51866	0.682;0.403	T	0.71269	-0.4643	10	0.72032	D	0.01	-7.2301	8.6715	0.34154	0.1743:0.0:0.8257:0.0	.	229;229	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	V	229	ENSP00000332148:A229V;ENSP00000419486:A229V	ENSP00000332148:A229V	A	-	2	0	DZIP1L	139296416	0.936000	0.31750	0.894000	0.35097	0.944000	0.59088	1.453000	0.35167	1.266000	0.44231	-0.214000	0.12660	GCG		0.567	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		A	137813726	G	A	137813726	3	1	290	1	0	0	0	0	1	0	0	0	4866	1087	38	1	1678	1	DZIP1L	3	137813726	Missense_Mutation	SNP	G	TCGA-B8-5552-01B-11D-1669-08	121338283	137813726	60208704	7	17209											
COPB2	9276	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	139077639	139077639	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr3:139077639T>G	ENST00000333188.5	-	20	2681	c.2500A>C	c.(2500-2502)Aat>Cat	p.N834H	COPB2_ENST00000507777.1_Missense_Mutation_p.N805H	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	834					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.N834H(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCCATGACATTTCTCTCTTCA	0.383																																																1	Substitution - Missense(1)	kidney(1)											135	121	126					3																	139077639		2203	4300	6503	SO:0001583	missense	9276			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2500A>C	3.37:g.139077639T>G	ENSP00000329419:p.Asn834His		B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.15|16.15	3.040729|3.040729	0.55003|0.55003	.|.	.|.	ENSG00000184432|ENSG00000184432	ENST00000503326|ENST00000333188;ENST00000507777	.|T;T	.|0.65916	.|-0.18;-0.07	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60327|0.60327	0.2260|0.2260	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.15484	.|0.013	T|T	0.58393|0.58393	-0.7644|-0.7644	5|10	.|0.49607	.|T	.|0.09	-7.5406|-7.5406	15.4192|15.4192	0.74997|0.74997	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|834	.|P35606	.|COPB2_HUMAN	T|H	47|834;805	.|ENSP00000329419:N834H;ENSP00000422295:N805H	.|ENSP00000329419:N834H	K|N	-|-	2|1	0|0	COPB2|COPB2	140560329|140560329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.500000|7.500000	0.81588|0.81588	2.047000|2.047000	0.60756|0.60756	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.383	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		G	139077639	T	G	139077639	3	3	290	1	0	0	0	0	1	0	0	0	3731	1841	64	5	232	5	COPB2	3	139077639	Missense_Mutation	SNP	T	TCGA-B8-5552-01B-11D-1669-08	1263913	139077639	58944791	8	17210											
C4orf41	60684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	184601356	184601356	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr4:184601356A>T	ENST00000334690.6	+	10	1251	c.1049A>T	c.(1048-1050)tAc>tTc	p.Y350F	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.Y350F	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	350					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.Y350F(1)									GGTTTCTATTACCAGCAGGCA	0.393																																																1	Substitution - Missense(1)	kidney(1)											116	116	116					4																	184601356		2203	4300	6503	SO:0001583	missense	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1049A>T	4.37:g.184601356A>T	ENSP00000335371:p.Tyr350Phe		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.381553	0.82792	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.69636	-0.5092	9	0.20519	T	0.43	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	350;350	Q7Z392;Q7Z392-3	TPC11_HUMAN;.	F	350	.	ENSP00000335371:Y350F	Y	+	2	0	C4orf41	184838350	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.335000	0.96500	2.284000	0.76573	0.528000	0.53228	TAC		0.393	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		T	184601356	A	T	184601356	3	4	290	1	0	0	0	0	1	0	0	0	2272	391	14	5	1083	5	C4orf41	4	184601356	Missense_Mutation	SNP	A	TCGA-B8-5552-01B-11D-1669-08		184601356	6552920	9	17211											
ADAMTS12	81792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33576384	33576384	+	Silent	SNP	G	G	A			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr5:33576384G>A	ENST00000504830.1	-	19	4082	c.3747C>T	c.(3745-3747)ctC>ctT	p.L1249L	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Silent_p.L1164L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1249	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L1249L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCCCAGAGGGAGCAGAGTGT	0.517										HNSCC(64;0.19)																																						1	Substitution - coding silent(1)	kidney(1)											152	152	152					5																	33576384		2203	4300	6503	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3747C>T	5.37:g.33576384G>A			A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		A	33576384	G	A	33576384	2	1	290	1	0	0	0	0	0	0	0	1	257	1161	41	2		2	ADAMTS12	5	33576384	Silent	SNP	G	TCGA-B8-5552-01B-11D-1669-08		33576384	147338876	10	17212											
NSD1	64324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176562399	176562399	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr5:176562399G>A	ENST00000439151.2	+	2	340	c.295G>A	c.(295-297)Gac>Aac	p.D99N	NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.D99N|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	99					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D99N(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATCCTTTCAAGACCCTGAAAA	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - Missense(2)	kidney(2)											83	81	82					5																	176562399		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.295G>A	5.37:g.176562399G>A	ENSP00000395929:p.Asp99Asn		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313060	0.40895	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.94417	-3.28;-3.42	5.23	5.23	0.72850	.	0.220156	0.32055	N	0.006641	D	0.86883	0.6040	N	0.08118	0	0.80722	D	1	B;B;B	0.20671	0.047;0.028;0.015	B;B;B	0.18561	0.022;0.01;0.006	D	0.83371	0.0007	10	0.62326	D	0.03	.	11.1971	0.48719	0.0842:0.0:0.9158:0.0	.	99;99;99	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	N	99	ENSP00000395929:D99N;ENSP00000354310:D99N	ENSP00000354310:D99N	D	+	1	0	NSD1	176495005	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	4.025000	0.57225	2.719000	0.93026	0.555000	0.69702	GAC		0.448	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		A	176562399	G	A	176562399	3	1	290	1	0	0	0	0	1	0	0	0	10671	942	33	2	297	2	NSD1	5	176562399	Missense_Mutation	SNP	G	TCGA-B8-5552-01B-11D-1669-08	142986015	176562399	4352861	11	17213											
HSPA1L	3305	broad.mit.edu;hgsc.bcm.edu	37	6	31779631	31779631	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr6:31779631G>A	ENST00000375654.4	-	2	308	c.119C>T	c.(118-120)aCc>aTc	p.T40I	HSPA1L_ENST00000417199.3_Missense_Mutation_p.T40I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	40					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.T40I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTAGCTGGGGGTGGTGCGGTT	0.582																																																1	Substitution - Missense(1)	kidney(1)											114	94	101					6																	31779631		2203	4300	6503	SO:0001583	missense	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.119C>T	6.37:g.31779631G>A	ENSP00000364805:p.Thr40Ile		A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663672	0.47572	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.01538	4.79;4.79	4.52	4.52	0.55395	.	.	.	.	.	T	0.12689	0.0308	H	0.97214	3.96	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.06285	-1.0835	9	0.87932	D	0	.	14.7802	0.69760	0.0:0.0:1.0:0.0	.	40	P34931	HS71L_HUMAN	I	40;40;40;37	ENSP00000364805:T40I;ENSP00000387691:T40I	ENSP00000364804:T40I	T	-	2	0	HSPA1L	31887610	1.000000	0.71417	0.997000	0.53966	0.215000	0.24574	9.590000	0.98238	2.317000	0.78254	0.460000	0.39030	ACC		0.582	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			A	31779631	G	A	31779631	3	1	290	1	0	0	0	0	1	0	0	0	7412	1261	44	2	1810	2	HSPA1L	6	31779631	Missense_Mutation	SNP	G	TCGA-B8-5552-01B-11D-1669-08		31779631	139335436	12	17214											
DLD	1738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107542792	107542792	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr7:107542792A>G	ENST00000205402.5	+	4	502	c.221A>G	c.(220-222)gAa>gGa	p.E74G	DLD_ENST00000437604.2_Missense_Mutation_p.E74G|DLD_ENST00000537148.1_Intron|DLD_ENST00000440410.1_Intron|DLD_ENST00000494441.1_3'UTR	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	74					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)	p.E74G(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	GAGAAAAATGAAACACTTGGT	0.353																																																2	Substitution - Missense(2)	kidney(2)											290	256	268					7																	107542792		2203	4300	6503	SO:0001583	missense	1738			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.221A>G	7.37:g.107542792A>G	ENSP00000205402:p.Glu74Gly		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.593593	0.28445	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000437604;ENST00000539590	T;T;T	0.49432	0.78;0.78;0.78	6.17	6.17	0.99709	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.317255	0.38111	N	0.001805	T	0.22975	0.0555	N	0.04355	-0.22	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.18272	-1.0342	10	0.02654	T	1	-4.6667	13.0728	0.59072	0.8666:0.1334:0.0:0.0	.	74;74	B4DT69;P09622	.;DLDH_HUMAN	G	74;74;74;24	ENSP00000205402:E74G;ENSP00000390667:E74G;ENSP00000387542:E74G	ENSP00000205402:E74G	E	+	2	0	DLD	107330028	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.032000	0.49736	2.371000	0.80710	0.533000	0.62120	GAA		0.353	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		G	107542792	A	G	107542792	3	3	290	1	0	0	0	0	1	0	0	0	4553	246	9	3	235	3	DLD	7	107542792	Missense_Mutation	SNP	A	TCGA-B8-5552-01B-11D-1669-08		107542792	51595871	13	17215											
DIP2C	22982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	329235	329235	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr10:329235G>T	ENST00000280886.6	-	35	4358	c.4271C>A	c.(4270-4272)aCt>aAt	p.T1424N	RNA5SP298_ENST00000364991.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1424						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.T1424N(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTGAGCTCAGTTCTCCGCAG	0.557																																																1	Substitution - Missense(1)	kidney(1)											101	99	99					10																	329235		2203	4300	6503	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4271C>A	10.37:g.329235G>T	ENSP00000280886:p.Thr1424Asn		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268748	0.95429	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.26810	1.71	5.92	5.92	0.95590	AMP-dependent synthetase/ligase (1);	0.098796	0.64402	D	0.000002	T	0.52008	0.1708	M	0.66939	2.045	0.80722	D	1	D	0.63046	0.992	D	0.72625	0.978	T	0.35599	-0.9782	10	0.42905	T	0.14	-12.3002	20.3103	0.98641	0.0:0.0:1.0:0.0	.	1424	Q9Y2E4	DIP2C_HUMAN	N	1424;349	ENSP00000280886:T1424N	ENSP00000280886:T1424N	T	-	2	0	DIP2C	319235	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	9.815000	0.99349	2.805000	0.96524	0.549000	0.68633	ACT		0.557	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	329235	G	T	329235	3	4	290	1	0	0	0	0	1	0	0	0	4531	1029	36	4	411	4	DIP2C	10	329235	Missense_Mutation	SNP	G	TCGA-B8-5552-01B-11D-1669-08		329235	135205512	14	17216											
INPP5F	22876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	121567483	121567483	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr10:121567483C>T	ENST00000361976.2	+	13	1646	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	801	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.P494S(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ACAGCCATTACCTGTGAAATG	0.423																																																1	Substitution - Missense(1)	kidney(1)											110	102	105					10																	121567483		2203	4300	6503	SO:0001583	missense	22876			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1480C>T	10.37:g.121567483C>T	ENSP00000354519:p.Pro494Ser		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126844	0.94429	.	.	ENSG00000198825	ENST00000361976	T	0.28895	1.59	5.55	5.55	0.83447	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	L	0.48877	1.53	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.12528	-1.0544	10	0.33940	T	0.23	-19.5224	19.8696	0.96845	0.0:1.0:0.0:0.0	.	494	Q9Y2H2	SAC2_HUMAN	S	494	ENSP00000354519:P494S	ENSP00000354519:P494S	P	+	1	0	INPP5F	121557473	1.000000	0.71417	0.714000	0.30535	0.996000	0.88848	7.726000	0.84824	2.773000	0.95371	0.585000	0.79938	CCT		0.423	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		T	121567483	C	T	121567483	3	4	290	1	0	0	0	0	1	0	0	0	7760	507	18	2	1530	2	INPP5F	10	121567483	Missense_Mutation	SNP	C	TCGA-B8-5552-01B-11D-1669-08	121238248	121567483	13967264	15	17217											
PGAP2	27315	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	3846652	3846652	+	Silent	SNP	G	G	A	rs151115501		TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr11:3846652G>A	ENST00000463452.2	+	6	812	c.729G>A	c.(727-729)ctG>ctA	p.L243L	PGAP2_ENST00000278243.4_Silent_p.L304L|PGAP2_ENST00000465307.2_3'UTR|PGAP2_ENST00000493547.2_3'UTR|PGAP2_ENST00000396991.2_Silent_p.L304L|PGAP2_ENST00000300730.6_Silent_p.L296L|PGAP2_ENST00000396993.4_3'UTR|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000396986.2_Silent_p.L300L|PGAP2_ENST00000479072.1_Silent_p.L83L|PGAP2_ENST00000496834.2_Silent_p.L87L	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	243					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.L296L(1)|p.L304L(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						ACAAGGAGCTGCTCATAACCT	0.522											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - coding silent(2)	kidney(2)											147	121	130					11																	3846652		2201	4298	6499	SO:0001819	synonymous_variant	27315			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"FGF receptor activating protein 1", "cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"	615187	"mental retardation, non-syndromic, autosomal recessive, 21"	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.729G>A	11.37:g.3846652G>A		614	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Silent	SNP	ENST00000463452.2	37	CCDS58112.1	.	.	.	.	.	.	.	.	.	.	G	9.762	1.170224	0.21621	.	.	ENSG00000148985	ENST00000464906	.	.	.	5.41	3.52	0.40303	.	.	.	.	.	T	0.58524	0.2128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53556	-0.8422	4	.	.	.	-10.4111	8.5956	0.33714	0.0799:0.0:0.7684:0.1518	.	.	.	.	Y	334	.	.	C	+	2	0	PGAP2	3803228	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.779000	0.55379	0.828000	0.34709	-0.291000	0.09656	TGC		0.522	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			A	3846652	G	A	3846652	2	1	290	1	0	0	0	0	0	0	0	1	11780	1306	46	2		2	PGAP2	11	3846652	Silent	SNP	G	TCGA-B8-5552-01B-11D-1669-08		3846652	131159864	16	17218											
HIPK3	10114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	33308096	33308096	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr11:33308096A>C	ENST00000303296.4	+	2	441	c.136A>C	c.(136-138)Aat>Cat	p.N46H	HIPK3_ENST00000379016.3_Missense_Mutation_p.N46H|HIPK3_ENST00000456517.1_Missense_Mutation_p.N46H|HIPK3_ENST00000525975.1_Missense_Mutation_p.N46H	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	46					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N46H(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GACCTATGTGAATGGTAGAAA	0.398																																																1	Substitution - Missense(1)	kidney(1)											117	111	113					11																	33308096		2202	4298	6500	SO:0001583	missense	10114			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.136A>C	11.37:g.33308096A>C	ENSP00000304226:p.Asn46His		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.529900	0.27387	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000531504;ENST00000456517	T;T;T;T	0.52526	0.67;0.66;0.67;0.67	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.48114	0.1482	L	0.36672	1.1	0.80722	D	1	P;P	0.42556	0.696;0.783	P;P	0.49887	0.598;0.625	T	0.29971	-0.9994	10	0.13853	T	0.58	.	15.8791	0.79189	1.0:0.0:0.0:0.0	.	46;46	Q9H422-2;Q9H422	.;HIPK3_HUMAN	H	46	ENSP00000431710:N46H;ENSP00000304226:N46H;ENSP00000368301:N46H;ENSP00000398241:N46H	ENSP00000304226:N46H	N	+	1	0	HIPK3	33264672	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.144000	0.77357	2.160000	0.67779	0.477000	0.44152	AAT		0.398	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		C	33308096	A	C	33308096	3	2	290	1	0	0	0	0	1	0	0	0	7120	246	9	5	138	5	HIPK3	11	33308096	Missense_Mutation	SNP	A	TCGA-B8-5552-01B-11D-1669-08	29461444	33308096	101698420	17	17219											
SIK2	23235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111591208	111591208	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr11:111591208T>A	ENST00000304987.3	+	11	1675	c.1502T>A	c.(1501-1503)aTt>aAt	p.I501N	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	501					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.I501N(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AAAGGGAAAATTTTCTCCATG	0.438																																																1	Substitution - Missense(1)	kidney(1)											83	86	85					11																	111591208		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1502T>A	11.37:g.111591208T>A	ENSP00000305976:p.Ile501Asn		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.047422	0.55110	.	.	ENSG00000170145	ENST00000304987	T	0.73363	-0.74	5.53	5.53	0.82687	.	0.762038	0.13065	N	0.416567	T	0.61223	0.2330	N	0.14661	0.345	0.40012	D	0.975291	B	0.26635	0.155	B	0.27608	0.081	T	0.56360	-0.7992	10	0.24483	T	0.36	.	15.4975	0.75666	0.0:0.0:0.0:1.0	.	501	Q9H0K1	SIK2_HUMAN	N	501	ENSP00000305976:I501N	ENSP00000305976:I501N	I	+	2	0	SIK2	111096418	1.000000	0.71417	0.965000	0.40720	0.981000	0.71138	5.647000	0.67923	2.324000	0.78689	0.533000	0.62120	ATT		0.438	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		A	111591208	T	A	111591208	3	1	290	1	0	0	0	0	1	0	0	0	14324	1493	52	5	1544	5	SIK2	11	111591208	Missense_Mutation	SNP	T	TCGA-B8-5552-01B-11D-1669-08	78283112	111591208	23415308	18	17220											
BIN2	51411	broad.mit.edu;hgsc.bcm.edu	37	12	51685607	51685607	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr12:51685607G>T	ENST00000267012.4	-	10	1344	c.1283C>A	c.(1282-1284)cCc>cAc	p.P428H	BIN2_ENST00000452142.2_Missense_Mutation_p.P396H|BIN2_ENST00000544402.1_Missense_Mutation_p.P402H|BIN2_ENST00000604560.1_Missense_Mutation_p.P401H	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	428	Pro-rich.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.P428H(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCCTGAGGAGGGCCTGGGGCT	0.607																																																1	Substitution - Missense(1)	kidney(1)											53	56	55					12																	51685607		2203	4300	6503	SO:0001583	missense	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.1283C>A	12.37:g.51685607G>T	ENSP00000267012:p.Pro428His		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	G	7.498	0.652005	0.14580	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96830	-4.14;-0.1;-0.11	4.08	-1.51	0.08664	.	2.083000	0.01674	N	0.025771	D	0.90007	0.6880	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.08055	0.003;0.003;0.001	T	0.79921	-0.1599	10	0.54805	T	0.06	0.0504	0.7054	0.00915	0.1972:0.1514:0.3109:0.3404	.	402;396;428	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	H	396;428;402	ENSP00000410217:P396H;ENSP00000267012:P428H;ENSP00000445874:P402H	ENSP00000267012:P428H	P	-	2	0	BIN2	49971874	0.002000	0.14202	0.008000	0.14137	0.930000	0.56654	-0.342000	0.07801	-0.410000	0.07542	0.563000	0.77884	CCC		0.607	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			T	51685607	G	T	51685607	3	4	290	1	0	0	0	0	1	0	0	0	1433	1232	43	4	430	4	BIN2	12	51685607	Missense_Mutation	SNP	G	TCGA-B8-5552-01B-11D-1669-08		51685607	82166288	19	17221											
SKA3	221150	hgsc.bcm.edu	37	13	21746601	21746601	+	Frame_Shift_Del	DEL	G	G	-	rs151272242	byFrequency	TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr13:21746601delG	ENST00000314759.5	-	3	332	c.208delC	c.(208-210)caafs	p.Q70fs	SKA3_ENST00000400018.3_Frame_Shift_Del_p.Q70fs	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	70					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATGCCTTCTTGATTTTCCAAT	0.259													G|G|-|deletion	696	0.138978	0.0295	0.134	5008	,	,		19850	0.2391		0.1412	False		,,,				2504	0.1851															0									,	159,4085		0,159,1963	42	43	42		,	3	0.9	13	dbSNP_134	45	930,7300		2,926,3187	no	frameshift,frameshift	SKA3	NM_145061.5,NM_001166017.1	,	2,1085,5150	A1A1,A1R,RR		11.3001,3.7465,8.7302	,	,	21746601	1089,11385	2195	4287	6482	SO:0001589	frameshift_variant	221150			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.208delC	13.37:g.21746601delG	ENSP00000319417:p.Gln70fs		A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Frame_Shift_Del	DEL	ENST00000314759.5	37	CCDS31946.1																																																																																				0.259	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		-	21746601	G	-	21746601	7	5	290	1	0	1	0	1	0	0	0	0	14360	1299	45	0	1105	0	SKA3	13	21746601	Frame_Shift_Del	DEL	G	TCGA-B8-5552-01B-11D-1669-08		21746601	93423277	20	17222											
NEK9	91754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75583974	75583974	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr14:75583974T>C	ENST00000238616.5	-	6	844	c.686A>G	c.(685-687)aAt>aGt	p.N229S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.N229S(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AGACTTGAAATTGTACTTTAC	0.403																																																1	Substitution - Missense(1)	kidney(1)											126	114	118					14																	75583974		2203	4300	6503	SO:0001583	missense	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.686A>G	14.37:g.75583974T>C	ENSP00000238616:p.Asn229Ser		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	t	15.87	2.959728	0.53400	.	.	ENSG00000119638	ENST00000238616;ENST00000540227;ENST00000557673	T;T	0.62788	2.0;0.0	5.73	4.59	0.56863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.098987	0.64402	N	0.000002	T	0.38348	0.1037	N	0.04508	-0.205	0.36059	D	0.841315	B	0.18461	0.028	B	0.22152	0.038	T	0.38001	-0.9681	10	0.46703	T	0.11	.	8.5455	0.33419	0.0:0.1467:0.0:0.8533	.	229	Q8TD19	NEK9_HUMAN	S	229;211;111	ENSP00000238616:N229S;ENSP00000450943:N111S	ENSP00000238616:N229S	N	-	2	0	NEK9	74653727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.917000	0.63369	1.020000	0.39573	0.529000	0.55759	AAT		0.403	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		C	75583974	T	C	75583974	3	2	290	1	0	0	0	0	1	0	0	0	10333	1493	52	3	2321	3	NEK9	14	75583974	Missense_Mutation	SNP	T	TCGA-B8-5552-01B-11D-1669-08		75583974	31765566	21	17223											
HSP90AA1	3320	broad.mit.edu;hgsc.bcm.edu	37	14	102548486	102548486	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr14:102548486T>C	ENST00000216281.8	-	10	2256	c.2051A>G	c.(2050-2052)cAt>cGt	p.H684R	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.H806R	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	684	Required for homodimerization.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.H806R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CCTGTTAGCATGTGTCTGGGG	0.418																																																1	Substitution - Missense(1)	kidney(1)											59	56	57					14																	102548486		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.2051A>G	14.37:g.102548486T>C	ENSP00000216281:p.His684Arg		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.965698	0.74131	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.10099	2.91;2.91	4.34	4.34	0.51931	.	0.000000	0.85682	U	0.000000	T	0.46308	0.1386	H	0.97051	3.93	0.80722	D	1	P;D	0.76494	0.887;0.999	P;D	0.81914	0.749;0.995	T	0.64736	-0.6337	10	0.62326	D	0.03	-29.5884	13.8339	0.63398	0.0:0.0:0.0:1.0	.	806;684	P07900-2;P07900	.;HS90A_HUMAN	R	684;806	ENSP00000216281:H684R;ENSP00000335153:H806R	ENSP00000216281:H684R	H	-	2	0	HSP90AA1	101618239	1.000000	0.71417	0.924000	0.36721	0.897000	0.52465	7.727000	0.84838	1.739000	0.51704	0.377000	0.23210	CAT		0.418	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		C	102548486	T	C	102548486	3	2	290	1	0	0	0	0	1	0	0	0	7403	1464	51	3	155	3	HSP90AA1	14	102548486	Missense_Mutation	SNP	T	TCGA-B8-5552-01B-11D-1669-08	26964512	102548486	4801054	22	17224											
CHRNB4	1143	hgsc.bcm.edu;ucsc.edu	37	15	78917593	78917593	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr15:78917593C>T	ENST00000261751.3	-	6	1490	c.1379G>A	c.(1378-1380)cGg>cAg	p.R460Q	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Missense_Mutation_p.G134S	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	460					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CAGGAACAGCCGGTCCACCAC	0.607																																																0													252	212	225					15																	78917593		2196	4293	6489	SO:0001583	missense	1143			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1379G>A	15.37:g.78917593C>T	ENSP00000261751:p.Arg460Gln		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	CCDS10306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.792792|5.792792	0.96945|0.96945	.|.	.|.	ENSG00000117971|ENSG00000117971	ENST00000412074|ENST00000261751	T|D	0.74315|0.88818	-0.83|-2.43	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Neurotransmitter-gated ion-channel transmembrane domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96880|0.96880	0.8981|0.8981	H|H	0.97983|0.97983	4.12|4.12	0.80722|0.80722	D|D	1|1	P|D	0.52316|0.89917	0.952|1.0	B|D	0.41174|0.97110	0.349|1.0	D|D	0.98192|0.98192	1.0463|1.0463	9|10	0.16420|0.87932	T|D	0.52|0	.|.	18.2372|18.2372	0.89952|0.89952	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	134|460	E9PHE8|P30926	.|ACHB4_HUMAN	S|Q	134|460	ENSP00000416386:G134S|ENSP00000261751:R460Q	ENSP00000416386:G134S|ENSP00000261751:R460Q	G|R	-|-	1|2	0|0	CHRNB4|CHRNB4	76704648|76704648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.791000|7.791000	0.85805|0.85805	2.669000|2.669000	0.90835|0.90835	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.607	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			T	78917593	C	T	78917593	3	4	290	1	0	0	0	0	1	0	0	0	3395	652	23	1	121	1	CHRNB4	15	78917593	Missense_Mutation	SNP	C	TCGA-B8-5552-01B-11D-1669-08		78917593	23613799	23	17225											
CHRNB4	1143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78921969	78921969	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr15:78921969G>T	ENST00000261751.3	-	5	789	c.678C>A	c.(676-678)ttC>ttA	p.F226L	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	226					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.F226L(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GCTTGATGATGAAGTCGTAAG	0.552																																																1	Substitution - Missense(1)	kidney(1)											369	282	312					15																	78921969		2196	4293	6489	SO:0001583	missense	1143			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.678C>A	15.37:g.78921969G>T	ENSP00000261751:p.Phe226Leu		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062941	0.55432	.	.	ENSG00000117971	ENST00000261751	T	0.75154	-0.91	5.26	3.0	0.34707	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	N	0.12502	0.225	0.80722	D	1	D	0.55172	0.97	P	0.59546	0.859	T	0.60193	-0.7311	10	0.15499	T	0.54	.	10.1258	0.42649	0.2434:0.0:0.7566:0.0	.	226	P30926	ACHB4_HUMAN	L	226	ENSP00000261751:F226L	ENSP00000261751:F226L	F	-	3	2	CHRNB4	76709024	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.050000	0.30404	1.214000	0.43395	0.609000	0.83330	TTC		0.552	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			T	78921969	G	T	78921969	3	4	290	1	0	0	0	0	1	0	0	0	3395	1281	45	4	826	4	CHRNB4	15	78921969	Missense_Mutation	SNP	G	TCGA-B8-5552-01B-11D-1669-08	4376	78921969	23609423	24	17226											
RHBDF1	64285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	109479	109479	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr16:109479A>G	ENST00000262316.6	-	15	1973	c.1831T>C	c.(1831-1833)Tcc>Ccc	p.S611P		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	611					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.S611P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TACTCCCGGGAGGTGATCTCA	0.612																																																1	Substitution - Missense(1)	kidney(1)											67	60	63					16																	109479		2203	4300	6503	SO:0001583	missense	64285			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1831T>C	16.37:g.109479A>G	ENSP00000262316:p.Ser611Pro		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.257140	0.80246	.	.	ENSG00000007384	ENST00000262316	T	0.55413	0.52	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	L	0.49126	1.545	0.80722	D	1	D	0.65815	0.995	P	0.59761	0.863	T	0.67288	-0.5708	10	0.87932	D	0	-53.9443	14.5752	0.68240	1.0:0.0:0.0:0.0	.	611	Q96CC6	RHDF1_HUMAN	P	611	ENSP00000262316:S611P	ENSP00000262316:S611P	S	-	1	0	RHBDF1	49479	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	4.975000	0.63777	2.052000	0.61016	0.533000	0.62120	TCC		0.612	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		G	109479	A	G	109479	3	3	290	1	0	0	0	0	1	0	0	0	13325	304	11	3	752	3	RHBDF1	16	109479	Missense_Mutation	SNP	A	TCGA-B8-5552-01B-11D-1669-08		109479	90245274	25	17227											
MAF	4094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	79632954	79632954	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr16:79632954G>T	ENST00000393350.1	-	1	1657	c.846C>A	c.(844-846)agC>agA	p.S282R	MAF_ENST00000326043.4_Missense_Mutation_p.S282R|MAF_ENST00000569649.1_Missense_Mutation_p.S282R	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	282	Represses ARE-mediated transcription.				cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S282R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CCTCCTCCTTGCTGACCCCGC	0.657			T	IGH@	MM																																		Dom	yes		16	16q22-q23	4094	v-maf musculoaponeurotic fibrosarcoma oncogene homolog		L	1	Substitution - Missense(1)	kidney(1)											19	19	19					16																	79632954		2194	4295	6489	SO:0001583	missense	4094				CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.846C>A	16.37:g.79632954G>T	ENSP00000377019:p.Ser282Arg		Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930687	0.73327	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.92595	-3.07;-3.07	4.01	2.95	0.34219	Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.099951	0.64402	D	0.000003	D	0.95570	0.8560	M	0.82716	2.605	0.46654	D	0.999148	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.976	D	0.95783	0.8818	10	0.72032	D	0.01	-12.0497	12.9296	0.58280	0.0:0.1646:0.8354:0.0	.	282;282	O75444;O75444-1	MAF_HUMAN;.	R	282	ENSP00000327048:S282R;ENSP00000377019:S282R	ENSP00000327048:S282R	S	-	3	2	MAF	78190455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.474000	0.81024	1.951000	0.56629	0.442000	0.29010	AGC		0.657	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			T	79632954	G	T	79632954	3	4	290	1	0	0	0	0	1	0	0	0	9157	1310	46	4	377	4	MAF	16	79632954	Missense_Mutation	SNP	G	TCGA-B8-5552-01B-11D-1669-08	79523475	79632954	10721799	26	17228											
MBP	4155	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	74778271	74778271	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr18:74778271T>A	ENST00000397860.3	-	3	336	c.122A>T	c.(121-123)gAg>gTg	p.E41V	MBP_ENST00000579129.1_Missense_Mutation_p.E41V|MBP_ENST00000397863.1_Missense_Mutation_p.E41V|MBP_ENST00000355994.2_Missense_Mutation_p.E41V|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000580402.1_Missense_Mutation_p.E41V	NM_001025100.1	NP_001020271.1	P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.E41V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	TTCGTTGTCCTCTGAGGTTGT	0.463																																					NSCLC(17;72 1131 19392)											1	Substitution - Missense(1)	kidney(1)											173	130	144					18																	74778271		2203	4300	6503	SO:0001583	missense	4155				CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397860.3:c.122A>T	18.37:g.74778271T>A	ENSP00000380958:p.Glu41Val		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397860.3	37	CCDS42450.1	.	.	.	.	.	.	.	.	.	.	T	6.899	0.535326	0.13188	.	.	ENSG00000197971	ENST00000355994;ENST00000397863;ENST00000397860	.	.	.	3.28	2.12	0.27331	.	0.480100	0.18861	N	0.129134	T	0.36358	0.0964	L	0.44542	1.39	0.09310	N	1	P;D	0.55385	0.952;0.971	B;P	0.52343	0.404;0.696	T	0.13737	-1.0498	9	0.87932	D	0	-2.3411	5.252	0.15527	0.0:0.1314:0.0:0.8686	.	41;41	P02686;P02686-2	MBP_HUMAN;.	V	41	.	ENSP00000348273:E41V	E	-	2	0	MBP	72907259	0.029000	0.19370	0.074000	0.20217	0.018000	0.09664	0.704000	0.25661	0.654000	0.30846	0.533000	0.62120	GAG		0.463	MBP-005	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267945.1	NM_001025081		A	74778271	T	A	74778271	3	1	290	1	0	0	0	0	1	0	0	0	9361	1551	54	5	920	5	MBP	18	74778271	Missense_Mutation	SNP	T	TCGA-B8-5552-01B-11D-1669-08		74778271	3298977	27	17229											
PTGIS	5740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	48130813	48130813	+	Silent	SNP	C	C	T	rs140787750		TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr20:48130813C>T	ENST00000244043.4	-	7	1004	c.975G>A	c.(973-975)tcG>tcA	p.S325S	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	325					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)	p.S325S(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	TGGTCGTCTGCGAGACAGGCT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		21160	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											102	91	95					20																	48130813		2203	4300	6503	SO:0001819	synonymous_variant	5740				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.975G>A	20.37:g.48130813C>T			Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Silent	SNP	ENST00000244043.4	37	CCDS13419.1																																																																																				0.567	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			T	48130813	C	T	48130813	2	4	290	1	0	0	0	0	0	0	0	1	12758	755	27	1		1	PTGIS	20	48130813	Silent	SNP	C	TCGA-B8-5552-01B-11D-1669-08		48130813	14894707	28	17230											
COL18A1	80781	hgsc.bcm.edu	37	21	46925141	46925149	+	In_Frame_Del	DEL	GGCCCCCCA	GGCCCCCCA	-			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	GGCCCCCCA	GGCCCCCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chr21:46925141_46925149delGGCCCCCCA	ENST00000359759.4	+	34	4228_4236	c.4207_4215delGGCCCCCCA	c.(4207-4215)ggccccccadel	p.GPP1409del	COL18A1_ENST00000400337.2_In_Frame_Del_p.GPP994del|COL18A1_ENST00000355480.5_In_Frame_Del_p.GPP1174del|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1409	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGCCCTCCCGGCCCCCCAGGCCCCCCAG	0.727																																																0									,	27,3173		11,5,1584					,	-8.5	0.1			10	28,7328		7,14,3657	no	coding,coding	COL18A1	NM_130445.2,NM_030582.3	,	18,19,5241	A1A1,A1R,RR		0.3806,0.8438,0.521	,	,		55,10501				SO:0001651	inframe_deletion	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4207_4215delGGCCCCCCA	21.37:g.46925150_46925158delGGCCCCCCA	ENSP00000352798:p.Gly1409_Pro1411del		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	In_Frame_Del	DEL	ENST00000359759.4	37																																																																																					0.727	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			-	46925149	GGCCCCCCA	-	46925141	7	5	290	1	0	1	0	1	0	0	0	0	3677	1116	39	0	4450	0	COL18A1	21	46925141	In_Frame_Del	DEL	GGCCCCCCA	TCGA-B8-5552-01B-11D-1669-08		46925141	1204754	29	17231											
KIAA2022	340533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	73960856	73960856	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chrX:73960856C>A	ENST00000055682.6	-	3	4147	c.3536G>T	c.(3535-3537)aGt>aTt	p.S1179I		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1179					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.S1179I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTGGGTGAACTTTTCTTTCT	0.408																																																1	Substitution - Missense(1)	kidney(1)											85	80	82					X																	73960856		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3536G>T	X.37:g.73960856C>A	ENSP00000055682:p.Ser1179Ile		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	c	10.11	1.260925	0.23051	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.31510	1.49;1.49	4.74	0.785	0.18584	.	0.498976	0.21919	N	0.067198	T	0.19406	0.0466	N	0.24115	0.695	0.30416	N	0.778591	P	0.42620	0.785	B	0.42422	0.387	T	0.13388	-1.0511	10	0.72032	D	0.01	-3.6427	5.6702	0.17717	0.0:0.5167:0.308:0.1754	.	1179	Q5QGS0	K2022_HUMAN	I	1179	ENSP00000362567:S1179I;ENSP00000055682:S1179I	ENSP00000055682:S1179I	S	-	2	0	KIAA2022	73877581	0.998000	0.40836	0.995000	0.50966	0.991000	0.79684	0.543000	0.23237	-0.159000	0.11021	0.597000	0.82753	AGT		0.408	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		A	73960856	C	A	73960856	3	1	290	1	0	0	0	0	1	0	0	0	8271	565	20	4	1022	4	KIAA2022	23	73960856	Missense_Mutation	SNP	C	TCGA-B8-5552-01B-11D-1669-08		73960856	81309704	30	17232											
POU3F4	5456	hgsc.bcm.edu	37	X	82764039	82764039	+	Frame_Shift_Del	DEL	A	A	-	rs111919890|rs386826000		TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chrX:82764039delA	ENST00000373200.2	+	1	771	c.707delA	c.(706-708)gaafs	p.E236fs	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	236	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TGCAGGTTCGAAGGCTTGCAG	0.562																																																0										3721,0		1592,0,537,0	71	54	60			5.1	1	X	dbSNP_132	61	6481,1		2355,1,1770,0	no	frameshift	POU3F4	NM_000307.3		3947,1,2307,0	A1A1,A1R,A1,RR		0.0154,0.0,0.0098			82764039	10202,1	2203	4300	6503	SO:0001589	frameshift_variant	5456			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.707delA	X.37:g.82764039delA	ENSP00000362296:p.Glu236fs		B2RC71|Q5H9G9|Q99410	Frame_Shift_Del	DEL	ENST00000373200.2	37	CCDS14450.1																																																																																				0.562	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		-	82764039	A	-	82764039	7	5	290	1	0	1	0	1	0	0	0	0	12279	246	9	0	709	0	POU3F4	23	82764039	Frame_Shift_Del	DEL	A	TCGA-B8-5552-01B-11D-1669-08	8803183	82764039	72506521	31	17233											
TBC1D8B	54885	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	106117008	106117008	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5552-01B-11D-1669-08	TCGA-B8-5552-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	13b52e49-20df-4e39-9dc9-cf8f7c157bd7	ee08ef8a-2a71-4a48-b8f3-b363a19db60d	g.chrX:106117008G>T	ENST00000357242.5	+	21	3350	c.3176G>T	c.(3175-3177)gGg>gTg	p.G1059V	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.G1053V	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1059							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.G1059V(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAAAAACAGGGAGCCACTTG	0.458																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|kidney(1)											99	95	96					X																	106117008		2203	4300	6503	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.3176G>T	X.37:g.106117008G>T	ENSP00000349781:p.Gly1059Val		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.316364	0.01331	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.07688	3.17;3.17	5.4	1.63	0.23807	.	1.002030	0.08043	N	0.995408	T	0.05090	0.0136	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.43278	-0.9401	10	0.29301	T	0.29	-1.3192	3.0406	0.06137	0.6333:0.1392:0.0895:0.1379	.	1059	Q0IIM8	TBC8B_HUMAN	V	1059;1053	ENSP00000349781:G1059V;ENSP00000276175:G1053V	ENSP00000276175:G1053V	G	+	2	0	TBC1D8B	106003664	0.021000	0.18746	0.016000	0.15963	0.025000	0.11179	0.757000	0.26433	0.795000	0.33922	-0.351000	0.07748	GGG		0.458	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		T	106117008	G	T	106117008	3	4	290	1	0	0	0	0	1	0	0	0	15631	1232	43	4	3324	4	TBC1D8B	23	106117008	Missense_Mutation	SNP	G	TCGA-B8-5552-01B-11D-1669-08	23352969	106117008	49153552	32	17234											
COL16A1	1307	hgsc.bcm.edu;ucsc.edu	37	1	32138105	32138105	+	Splice_Site	SNP	T	T	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:32138105T>A	ENST00000373672.3	-	47	3535		c.e47-2		COL16A1_ENST00000271069.6_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTTGTCACCCTGGAGAAGGAT	0.627																																					Colon(143;498 1786 21362 25193 36625)											0													71	78	76					1																	32138105		2068	4186	6254	SO:0001630	splice_region_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3019-2A>T	1.37:g.32138105T>A			Q16593|Q59F89|Q71RG9	Splice_Site	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	T	9.178	1.022743	0.19433	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5655	0.45171	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL16A1	31910692	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	4.306000	0.59117	2.062000	0.61559	0.459000	0.35465	.		0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Intron	A	32138105	T	A	32138105	5	1	291	1	0	0	0	0	0	0	1	0	3675	1594	55	5	1897	5	COL16A1	1	32138105	Splice_Site	SNP	T	TCGA-B8-5553-01A-01D-1534-10		32138105	217112516	1	17235											
ZSCAN20	7579	hgsc.bcm.edu;ucsc.edu	37	1	33960735	33960736	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:33960735_33960736delTA	ENST00000361328.3	+	8	2944_2945	c.2791_2792delTA	c.(2791-2793)tatfs	p.Y931fs		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	931					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAGAAGCCGTATAAATGTGTG	0.525																																																0																																										SO:0001589	frameshift_variant	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2791_2792delTA	1.37:g.33960737_33960738delTA	ENSP00000355053:p.Tyr931fs		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Frame_Shift_Del	DEL	ENST00000361328.3	37	CCDS41300.1																																																																																				0.525	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		-	33960736	TA	-	33960735	7	5	291	1	0	1	0	1	0	0	0	0	18237	1638	57	0	2817	0	ZSCAN20	1	33960735	Frame_Shift_Del	DEL	TA	TCGA-B8-5553-01A-01D-1534-10	1822630	33960735	215289886	2	17236											
ADORA3	140	hgsc.bcm.edu;ucsc.edu	37	1	112042593	112042593	+	Silent	SNP	G	G	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:112042593G>A	ENST00000241356.4	-	2	1341	c.936C>T	c.(934-936)agC>agT	p.S312S	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	312					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TCTTCTCAATGCTTGTGTCCA	0.433																																																0													71	72	72					1																	112042593		2203	4300	6503	SO:0001819	synonymous_variant	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.936C>T	1.37:g.112042593G>A			A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000241356.4	37	CCDS839.1																																																																																				0.433	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		A	112042593	G	A	112042593	2	1	291	1	0	0	0	0	0	0	0	1	329	1310	46	2		2	ADORA3	1	112042593	Silent	SNP	G	TCGA-B8-5553-01A-01D-1534-10	78081858	112042593	137208028	3	17237											
FLG	2312	hgsc.bcm.edu;ucsc.edu	37	1	152287813	152287813	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:152287813T>A	ENST00000368799.1	-	2	155	c.120A>T	c.(118-120)gaA>gaT	p.E40D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	40	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGCCGAAATTCCTTTTCCA	0.333									Ichthyosis																																							0													174	180	178					1																	152287813		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.120A>T	1.37:g.152287813T>A	ENSP00000357789:p.Glu40Asp		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904637	0.33628	.	.	ENSG00000143631	ENST00000368799	T	0.27256	1.68	5.07	0.327	0.15913	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.41627	0.1167	M	0.93241	3.395	0.09310	N	1	D	0.71674	0.998	D	0.74348	0.983	T	0.13150	-1.0520	9	0.87932	D	0	-16.2742	7.1922	0.25832	0.0:0.5252:0.0:0.4748	.	40	P20930	FILA_HUMAN	D	40	ENSP00000357789:E40D	ENSP00000357789:E40D	E	-	3	2	FLG	150554437	0.055000	0.20627	0.007000	0.13788	0.002000	0.02628	-0.035000	0.12205	0.152000	0.19188	-0.397000	0.06425	GAA		0.333	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152287813	T	A	152287813	3	1	291	1	0	0	0	0	1	0	0	0	5924	1490	52	5	12073	5	FLG	1	152287813	Missense_Mutation	SNP	T	TCGA-B8-5553-01A-01D-1534-10	40245220	152287813	96962808	4	17238											
ADAR	103	hgsc.bcm.edu;ucsc.edu	37	1	154574162	154574162	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:154574162G>T	ENST00000368474.4	-	2	1155	c.956C>A	c.(955-957)gCt>gAt	p.A319D	ADAR_ENST00000368471.3_Missense_Mutation_p.A24D|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.A362D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	319					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AATATTTTTAGCCAAATTCAG	0.458																																																0													74	75	75					1																	154574162		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.956C>A	1.37:g.154574162G>T	ENSP00000357459:p.Ala319Asp		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511259	0.85389	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.75	4.75	0.60458	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (3);	0.120167	0.56097	D	0.000034	T	0.60196	0.2250	M	0.71206	2.165	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.994;0.999	T	0.64385	-0.6420	10	0.72032	D	0.01	-15.007	13.6545	0.62330	0.0:0.155:0.845:0.0	.	319;319;319	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	D	362;319;24;314	ENSP00000292205:A362D;ENSP00000357459:A319D;ENSP00000357456:A24D;ENSP00000431794:A314D	ENSP00000292205:A362D	A	-	2	0	ADAR	152840786	1.000000	0.71417	0.882000	0.34594	0.990000	0.78478	6.746000	0.74866	2.450000	0.82876	0.491000	0.48974	GCT		0.458	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		T	154574162	G	T	154574162	3	4	291	1	0	0	0	0	1	0	0	0	281	971	34	4	2780	4	ADAR	1	154574162	Missense_Mutation	SNP	G	TCGA-B8-5553-01A-01D-1534-10	2286349	154574162	94676459	5	17239											
TADA1	117143	hgsc.bcm.edu;ucsc.edu	37	1	166826919	166826919	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:166826919G>A	ENST00000367874.4	-	8	986	c.893C>T	c.(892-894)gCt>gTt	p.A298V	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	298					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AATGTTAAGAGCATAGACAGT	0.433																																																0													144	142	142					1																	166826919		2203	4300	6503	SO:0001583	missense	117143			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.893C>T	1.37:g.166826919G>A	ENSP00000356848:p.Ala298Val		A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957002	0.73902	.	.	ENSG00000152382	ENST00000367874	T	0.51071	0.72	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.65498	2.005	0.46298	D	0.998974	P	0.47034	0.889	P	0.46796	0.527	T	0.53394	-0.8445	9	0.59425	D	0.04	-8.9363	15.1518	0.72706	0.0:0.0:1.0:0.0	.	298	Q96BN2	TADA1_HUMAN	V	298	ENSP00000356848:A298V	ENSP00000356848:A298V	A	-	2	0	TADA1	165093543	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.080000	0.94040	2.486000	0.83907	0.655000	0.94253	GCT		0.433	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		A	166826919	G	A	166826919	3	1	291	1	0	0	0	0	1	0	0	0	15514	971	34	2	118	2	TADA1	1	166826919	Missense_Mutation	SNP	G	TCGA-B8-5553-01A-01D-1534-10	12252757	166826919	82423702	6	17240											
STRN	6801	hgsc.bcm.edu;ucsc.edu	37	2	37126774	37126774	+	Silent	SNP	G	G	A	rs548893424		TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr2:37126774G>A	ENST00000263918.4	-	6	695	c.687C>T	c.(685-687)tcC>tcT	p.S229S	STRN_ENST00000379213.2_Silent_p.S217S	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	229					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.S229S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TATCCAGCACGGAGGCAGAAT	0.358																																																1	Substitution - coding silent(1)	large_intestine(1)											64	62	62					2																	37126774		2202	4299	6501	SO:0001819	synonymous_variant	6801			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.687C>T	2.37:g.37126774G>A			Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	ENST00000263918.4	37	CCDS1784.1																																																																																				0.358	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			A	37126774	G	A	37126774	2	1	291	1	0	0	0	0	0	0	0	1	15334	1103	39	1		1	STRN	2	37126774	Silent	SNP	G	TCGA-B8-5553-01A-01D-1534-10		37126774	206072599	7	17241											
ATP11B	23200	hgsc.bcm.edu;ucsc.edu	37	3	182616538	182616538	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr3:182616538C>G	ENST00000323116.5	+	28	3556	c.3296C>G	c.(3295-3297)cCt>cGt	p.P1099R		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1099					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CACCTCCACCCTACAAGTACT	0.348																																																0													100	92	95					3																	182616538		2203	4300	6503	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3296C>G	3.37:g.182616538C>G	ENSP00000321195:p.Pro1099Arg		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.317937|4.317937	0.81469|0.81469	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116;ENST00000442545	.|D	.|0.94000	.|-3.33	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95953|0.95953	0.8682|0.8682	L|L	0.54965|0.54965	1.715|1.715	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.89917	.|1.0;1.0;0.723	.|D;D;B	.|0.87578	.|0.998;0.998;0.274	D|D	0.95855|0.95855	0.8878|0.8878	5|10	.|0.59425	.|D	.|0.04	.|.	19.4929|19.4929	0.95059|0.95059	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|41;673;1099	.|E9PDZ3;B3KSJ2;Q9Y2G3	.|.;.;AT11B_HUMAN	V|R	900|1099;41	.|ENSP00000321195:P1099R	.|ENSP00000321195:P1099R	L|P	+|+	1|2	2|0	ATP11B|ATP11B	184099232|184099232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.487000|7.487000	0.81328|0.81328	2.616000|2.616000	0.88540|0.88540	0.585000|0.585000	0.79938|0.79938	CTA|CCT		0.348	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		G	182616538	C	G	182616538	3	3	291	1	0	0	0	0	1	0	0	0	1120	681	24	4	3406	4	ATP11B	3	182616538	Missense_Mutation	SNP	C	TCGA-B8-5553-01A-01D-1534-10		182616538	15405892	8	17242											
KLF3	51274	hgsc.bcm.edu;ucsc.edu	37	4	38698823	38698823	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr4:38698823A>G	ENST00000261438.5	+	6	1282	c.977A>G	c.(976-978)gAc>gGc	p.D326G		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	326					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						CCGGACTGTGACCGCAGCTTC	0.522																																																0													222	192	202					4																	38698823		2203	4300	6503	SO:0001583	missense	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.977A>G	4.37:g.38698823A>G	ENSP00000261438:p.Asp326Gly		Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945431	0.92593	.	.	ENSG00000109787	ENST00000261438	T	0.18174	2.23	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	N	0.05574	-0.02	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.20672	-1.0268	10	0.49607	T	0.09	.	15.802	0.78458	1.0:0.0:0.0:0.0	.	326	P57682	KLF3_HUMAN	G	326	ENSP00000261438:D326G	ENSP00000261438:D326G	D	+	2	0	KLF3	38375218	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.135000	0.66039	0.528000	0.53228	GAC		0.522	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			G	38698823	A	G	38698823	3	3	291	1	0	0	0	0	1	0	0	0	8349	275	10	3	995	3	KLF3	4	38698823	Missense_Mutation	SNP	A	TCGA-B8-5553-01A-01D-1534-10		38698823	152455453	9	17243											
WDR17	116966	hgsc.bcm.edu;ucsc.edu	37	4	177084327	177084327	+	Missense_Mutation	SNP	G	G	A	rs144009080	byFrequency	TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr4:177084327G>A	ENST00000280190.4	+	23	3101	c.2945G>A	c.(2944-2946)cGc>cAc	p.R982H	WDR17_ENST00000393643.2_Missense_Mutation_p.R958H|WDR17_ENST00000508596.1_Missense_Mutation_p.R958H|WDR17_ENST00000507824.2_Missense_Mutation_p.R965H			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	982										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TACCTGATTCGCGGAAATGAA	0.468													G|||	6	0.00119808	0.0045	0.0	5008	,	,		16443	0.0		0.0	False		,,,				2504	0.0															0								G	HIS/ARG,HIS/ARG	6,4400	11.4+/-27.6	0,6,2197	134	125	128		2945,2873	4.9	0.7	4	dbSNP_134	128	0,8600		0,0,4300	yes	missense,missense	WDR17	NM_170710.4,NM_181265.3	29,29	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging	982/1323,958/1284	177084327	6,13000	2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2945G>A	4.37:g.177084327G>A	ENSP00000280190:p.Arg982His		E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.47	3.630103	0.67015	0.001362	0.0	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.61040	0.18;0.2;0.14	5.72	4.88	0.63580	.	0.061286	0.64402	D	0.000002	T	0.74733	0.3755	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.78023	-0.2366	10	0.72032	D	0.01	-20.5872	14.8715	0.70462	0.0692:0.0:0.9308:0.0	.	958;958;982	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	H	958;958;982;965	ENSP00000422763:R958H;ENSP00000377258:R958H;ENSP00000280190:R982H	ENSP00000280190:R982H	R	+	2	0	WDR17	177321321	1.000000	0.71417	0.676000	0.29932	0.308000	0.27856	8.992000	0.93519	1.414000	0.47017	0.655000	0.94253	CGC		0.468	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			A	177084327	G	A	177084327	3	1	291	1	0	0	0	0	1	0	0	0	17282	1087	38	1	3031	1	WDR17	4	177084327	Missense_Mutation	SNP	G	TCGA-B8-5553-01A-01D-1534-10	138385504	177084327	14069949	10	17244											
VCAN	1462	hgsc.bcm.edu;ucsc.edu	37	5	82789433	82789433	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr5:82789433T>G	ENST00000265077.3	+	4	1079	c.514T>G	c.(514-516)Tgt>Ggt	p.C172G	VCAN_ENST00000343200.5_Missense_Mutation_p.C172G|VCAN_ENST00000512590.2_Missense_Mutation_p.C124G|VCAN_ENST00000342785.4_Missense_Mutation_p.C172G|VCAN_ENST00000513984.1_Missense_Mutation_p.C172G|VCAN_ENST00000502527.2_Missense_Mutation_p.C172G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	172	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCAGAAGGCTTGTTTGGACGT	0.517																																																0													109	100	103					5																	82789433		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.514T>G	5.37:g.82789433T>G	ENSP00000265077:p.Cys172Gly		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.470645	0.84533	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.78	5.78	0.91487	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000002	T	0.76564	0.4005	H	0.99026	4.405	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.86599	0.1865	10	0.87932	D	0	.	16.4053	0.83662	0.0:0.0:0.0:1.0	.	172;172;172;172;172	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	G	172;172;172;124;172;172;172	ENSP00000265077:C172G;ENSP00000340062:C172G;ENSP00000342768:C172G;ENSP00000425959:C124G;ENSP00000426251:C172G;ENSP00000426715:C172G;ENSP00000421362:C172G	ENSP00000265077:C172G	C	+	1	0	VCAN	82825189	1.000000	0.71417	0.873000	0.34254	0.923000	0.55619	7.997000	0.88414	2.333000	0.79357	0.482000	0.46254	TGT		0.517	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		G	82789433	T	G	82789433	3	3	291	1	0	0	0	0	1	0	0	0	17143	1812	63	5	524	5	VCAN	5	82789433	Missense_Mutation	SNP	T	TCGA-B8-5553-01A-01D-1534-10		82789433	98125827	11	17245											
PLG	5340	hgsc.bcm.edu;ucsc.edu	37	6	161139413	161139413	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr6:161139413C>G	ENST00000308192.9	+	8	938	c.875C>G	c.(874-876)tCc>tGc	p.S292C		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	292	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GTTACCGTGTCCGGGCACACC	0.542																																																0													147	140	142					6																	161139413		2203	4300	6503	SO:0001583	missense	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.875C>G	6.37:g.161139413C>G	ENSP00000308938:p.Ser292Cys		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927574	0.73327	.	.	ENSG00000122194	ENST00000308192	T	0.68025	-0.3	5.3	5.3	0.74995	Kringle (4);Kringle-like fold (1);	0.000000	0.38381	U	0.001717	D	0.87229	0.6125	H	0.98594	4.275	0.41906	D	0.990441	D	0.62365	0.991	D	0.63113	0.911	D	0.91963	0.5580	10	0.87932	D	0	.	18.1034	0.89513	0.0:1.0:0.0:0.0	.	292	P00747	PLMN_HUMAN	C	292	ENSP00000308938:S292C	ENSP00000308938:S292C	S	+	2	0	PLG	161059403	0.986000	0.35501	0.001000	0.08648	0.003000	0.03518	6.739000	0.74827	2.644000	0.89710	0.655000	0.94253	TCC		0.542	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		G	161139413	C	G	161139413	3	3	291	1	0	0	0	0	1	0	0	0	12088	855	30	4	909	4	PLG	6	161139413	Missense_Mutation	SNP	C	TCGA-B8-5553-01A-01D-1534-10		161139413	9975654	12	17246											
TRIM24	8805	hgsc.bcm.edu;ucsc.edu	37	7	138269684	138269684	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr7:138269684G>C	ENST00000343526.4	+	19	3356	c.3141G>C	c.(3139-3141)caG>caC	p.Q1047H	TRIM24_ENST00000415680.2_Missense_Mutation_p.Q1013H			O15164	TIF1A_HUMAN	tripartite motif containing 24	1047					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAGAACGCCAGTTGCTTAAAT	0.333																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											0													49	51	50					7																	138269684		2195	4292	6487	SO:0001583	missense	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.3141G>C	7.37:g.138269684G>C	ENSP00000340507:p.Gln1047His		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245953	0.39697	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680	T;T	0.77229	-1.07;-1.08	5.85	2.88	0.33553	.	0.290936	0.33631	N	0.004711	T	0.63721	0.2535	L	0.40543	1.245	0.29636	N	0.845058	B;B	0.11235	0.003;0.004	B;B	0.09377	0.002;0.004	T	0.59188	-0.7501	10	0.62326	D	0.03	-12.0856	3.1611	0.06521	0.143:0.1144:0.5235:0.2191	.	1047;1013	O15164;O15164-2	TIF1A_HUMAN;.	H	1047;439;958;1013	ENSP00000340507:Q1047H;ENSP00000390829:Q1013H	ENSP00000340507:Q1047H	Q	+	3	2	TRIM24	137920224	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	0.851000	0.27751	1.480000	0.48289	0.650000	0.86243	CAG		0.333	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		C	138269684	G	C	138269684	3	2	291	1	0	0	0	0	1	0	0	0	16503	1020	36	4	3215	4	TRIM24	7	138269684	Missense_Mutation	SNP	G	TCGA-B8-5553-01A-01D-1534-10		138269684	20868979	13	17247											
AGK	55750	hgsc.bcm.edu;ucsc.edu	37	7	141352681	141352681	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr7:141352681A>G	ENST00000355413.4	+	16	1486	c.1226A>G	c.(1225-1227)gAt>gGt	p.D409G	AGK_ENST00000473247.1_Missense_Mutation_p.D381G|RP5-894A10.2_ENST00000467537.1_RNA	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	409					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TTCTTCTGTGATCCTAGGAAG	0.552																																																0													96	92	94					7																	141352681		2203	4300	6503	SO:0001583	missense	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.1226A>G	7.37:g.141352681A>G	ENSP00000347581:p.Asp409Gly		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933782	0.52866	.	.	ENSG00000006530	ENST00000355413;ENST00000473247	T;T	0.13307	2.6;2.6	5.34	5.34	0.76211	.	0.220172	0.56097	D	0.000035	T	0.12774	0.0310	L	0.57536	1.79	0.80722	D	1	P	0.40144	0.704	B	0.27170	0.077	T	0.10730	-1.0617	10	0.22109	T	0.4	.	15.3251	0.74154	1.0:0.0:0.0:0.0	.	409	Q53H12	AGK_HUMAN	G	409;381	ENSP00000347581:D409G;ENSP00000420776:D381G	ENSP00000347581:D409G	D	+	2	0	AGK	140999150	1.000000	0.71417	0.941000	0.38009	0.986000	0.74619	5.448000	0.66612	2.024000	0.59613	0.533000	0.62120	GAT		0.552	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		G	141352681	A	G	141352681	3	3	291	1	0	0	0	0	1	0	0	0	383	333	12	3	1284	3	AGK	7	141352681	Missense_Mutation	SNP	A	TCGA-B8-5553-01A-01D-1534-10	3082997	141352681	17785982	14	17248											
PLAG1	5324	hgsc.bcm.edu;ucsc.edu	37	8	57080005	57080005	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr8:57080005C>T	ENST00000316981.3	-	5	779	c.300G>A	c.(298-300)atG>atA	p.M100I	PLAG1_ENST00000429357.2_Missense_Mutation_p.M100I|PLAG1_ENST00000423799.2_Missense_Mutation_p.M18I	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	100	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCCGGTGAAACATTTTCTCAC	0.373			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																		Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0													87	74	78					8																	57080005		2202	4300	6502	SO:0001583	missense	5324			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.300G>A	8.37:g.57080005C>T	ENSP00000325546:p.Met100Ile		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357017	0.41801	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.76060	2.26;-0.99;2.26	5.82	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.036203	0.85682	D	0.000000	T	0.56543	0.1992	N	0.08118	0	0.80722	D	1	P	0.43826	0.818	B	0.38985	0.287	T	0.59643	-0.7416	10	0.31617	T	0.26	-22.1219	16.6892	0.85317	0.0:0.8703:0.1297:0.0	.	100	Q6DJT9	PLAG1_HUMAN	I	100;18;100	ENSP00000325546:M100I;ENSP00000404067:M18I;ENSP00000416537:M100I	ENSP00000325546:M100I	M	-	3	0	PLAG1	57242559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.396000	0.46663	0.585000	0.79938	ATG		0.373	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		T	57080005	C	T	57080005	3	4	291	1	0	0	0	0	1	0	0	0	12020	478	17	2	1206	2	PLAG1	8	57080005	Missense_Mutation	SNP	C	TCGA-B8-5553-01A-01D-1534-10		57080005	89284017	15	17249											
LY96	23643	hgsc.bcm.edu	37	8	74903724	74903724	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr8:74903724C>G	ENST00000284818.2	+	1	138	c.47C>G	c.(46-48)aCt>aGt	p.T16S	LY96_ENST00000518893.1_Missense_Mutation_p.T16S	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	16					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCCATATTTACTGAAGCTCAG	0.363																																					GBM(131;1357 1748 34893 50149 52212)											0													210	198	202					8																	74903724		2203	4300	6503	SO:0001583	missense	23643			AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.47C>G	8.37:g.74903724C>G	ENSP00000284818:p.Thr16Ser		B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957487	0.34565	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.52057	2.07;0.68	5.34	3.51	0.40186	.	0.534254	0.18435	N	0.141319	T	0.45115	0.1326	L	0.57536	1.79	0.27686	N	0.946269	P	0.40970	0.734	B	0.42798	0.398	T	0.31752	-0.9932	10	0.30078	T	0.28	.	9.7268	0.40337	0.0:0.8315:0.0:0.1685	.	16	Q9Y6Y9	LY96_HUMAN	S	16	ENSP00000284818:T16S;ENSP00000430533:T16S	ENSP00000284818:T16S	T	+	2	0	LY96	75066278	0.962000	0.33011	0.992000	0.48379	0.362000	0.29581	0.935000	0.28924	1.481000	0.48307	0.655000	0.94253	ACT		0.363	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		G	74903724	C	G	74903724	3	3	291	1	0	0	0	0	1	0	0	0	9104	565	20	4	49	4	LY96	8	74903724	Missense_Mutation	SNP	C	TCGA-B8-5553-01A-01D-1534-10	17823719	74903724	71460298	16	17250											
CPSF1	29894	hgsc.bcm.edu	37	8	145623274	145623274	+	Silent	SNP	C	C	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr8:145623274C>A	ENST00000349769.3	-	20	2062	c.1968G>T	c.(1966-1968)gtG>gtT	p.V656V	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	656					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCATGATGACCACATAGGGGT	0.657																																					NSCLC(133;1088 1848 27708 34777 35269)											0													58	55	56					8																	145623274		2203	4298	6501	SO:0001819	synonymous_variant	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1968G>T	8.37:g.145623274C>A			Q96AF0	Silent	SNP	ENST00000349769.3	37	CCDS34966.1																																																																																				0.657	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		A	145623274	C	A	145623274	2	1	291	1	0	0	0	0	0	0	0	1	3826	581	21	4		4	CPSF1	8	145623274	Silent	SNP	C	TCGA-B8-5553-01A-01D-1534-10	70719550	145623274	740748	17	17251											
TMEM2	23670	hgsc.bcm.edu;ucsc.edu	37	9	74315738	74315738	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr9:74315738T>C	ENST00000377044.4	-	19	3736	c.3197A>G	c.(3196-3198)aAt>aGt	p.N1066S	TMEM2_ENST00000396272.3_Missense_Mutation_p.N59S|TMEM2_ENST00000377066.5_Missense_Mutation_p.N1003S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1066					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AATCCAGTCATTCCTTTAAAG	0.378																																																0													73	70	71					9																	74315738		2203	4300	6503	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3197A>G	9.37:g.74315738T>C	ENSP00000366243:p.Asn1066Ser		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.358926	0.61403	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.17	6.17	0.99709	.	0.324328	0.39687	N	0.001300	T	0.40272	0.1110	L	0.44542	1.39	0.39063	D	0.960555	B;B	0.17667	0.014;0.023	B;B	0.22152	0.017;0.038	T	0.20505	-1.0273	10	0.40728	T	0.16	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1066;1003	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	S	1066;1003;59;95	ENSP00000366243:N1066S;ENSP00000366266:N1003S;ENSP00000379569:N59S;ENSP00000366254:N95S	ENSP00000366243:N1066S	N	-	2	0	TMEM2	73505558	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.147000	0.58078	2.371000	0.80710	0.533000	0.62120	AAT		0.378	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		C	74315738	T	C	74315738	3	2	291	1	0	0	0	0	1	0	0	0	16126	1493	52	3	978	3	TMEM2	9	74315738	Missense_Mutation	SNP	T	TCGA-B8-5553-01A-01D-1534-10		74315738	66897693	18	17252											
SLC44A1	23446	hgsc.bcm.edu;ucsc.edu	37	9	108128708	108128708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr9:108128708C>T	ENST00000374720.3	+	12	1739	c.1492C>T	c.(1492-1494)Cag>Tag	p.Q498*	SLC44A1_ENST00000343170.7_Nonsense_Mutation_p.Q290*|SLC44A1_ENST00000374723.1_Nonsense_Mutation_p.Q498*|SLC44A1_ENST00000374724.1_Nonsense_Mutation_p.Q498*	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	498					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTATTTAAATCAGGtaaaata	0.308																																																0													36	36	36					9																	108128708		2203	4299	6502	SO:0001587	stop_gained	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1492C>T	9.37:g.108128708C>T	ENSP00000363852:p.Gln498*		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Nonsense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	41	8.534441	0.98852	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	.	.	.	5.56	5.56	0.83823	.	0.101787	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-19.0835	19.8857	0.96911	0.0:1.0:0.0:0.0	.	.	.	.	X	498;498;498;290	.	ENSP00000341856:Q290X	Q	+	1	0	SLC44A1	107168529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.494000	0.66905	2.771000	0.95319	0.650000	0.86243	CAG		0.308	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		T	108128708	C	T	108128708	4	4	291	1	0	0	0	0	0	1	0	0	14641	827	29	2	1538	2	SLC44A1	9	108128708	Nonsense_Mutation	SNP	C	TCGA-B8-5553-01A-01D-1534-10	33812970	108128708	33084723	19	17253											
BICC1	80114	hgsc.bcm.edu;ucsc.edu	37	10	60556181	60556181	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr10:60556181G>T	ENST00000373886.3	+	10	1265	c.1261G>T	c.(1261-1263)Ggg>Tgg	p.G421W	BICC1_ENST00000263103.1_Missense_Mutation_p.G47W	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	421					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGAAAGCAGTGGGGTTACCAT	0.493																																																0													136	112	120					10																	60556181		2203	4300	6503	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1261G>T	10.37:g.60556181G>T	ENSP00000362993:p.Gly421Trp			Missense_Mutation	SNP	ENST00000373886.3	37	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641434	0.87859	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.50001	1.61;0.76	5.18	5.18	0.71444	.	0.091349	0.85682	D	0.000000	T	0.67571	0.2907	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.99;1.0	T	0.67169	-0.5738	10	0.48119	T	0.1	-10.9688	19.0475	0.93027	0.0:0.0:1.0:0.0	.	341;421	E7EU62;Q9H694	.;BICC1_HUMAN	W	421;47	ENSP00000362993:G421W;ENSP00000263103:G47W	ENSP00000263103:G47W	G	+	1	0	BICC1	60226187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.632000	0.98428	2.567000	0.86603	0.655000	0.94253	GGG		0.493	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		T	60556181	G	T	60556181	3	4	291	1	0	0	0	0	1	0	0	0	1427	1348	47	4	1299	4	BICC1	10	60556181	Missense_Mutation	SNP	G	TCGA-B8-5553-01A-01D-1534-10		60556181	74978566	20	17254											
PANK1	53354	hgsc.bcm.edu;ucsc.edu	37	10	91348527	91348530	+	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	TCTA	TCTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr10:91348527_91348530delTCTA	ENST00000307534.4	-	6	1771_1774	c.1616_1619delTAGA	c.(1615-1620)atagacfs	p.ID539fs	PANK1_ENST00000371774.2_Frame_Shift_Del_p.ID341fs|PANK1_ENST00000322191.6_Frame_Shift_Del_p.ID255fs|PANK1_ENST00000342512.3_Frame_Shift_Del_p.ID314fs	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	539					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						CACAACTCTGTCTATGTTCTGGAA	0.363																																																0																																										SO:0001589	frameshift_variant	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1616_1619delTAGA	10.37:g.91348527_91348530delTCTA	ENSP00000302108:p.Ile539fs		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Frame_Shift_Del	DEL	ENST00000307534.4	37	CCDS31244.1																																																																																				0.363	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				-	91348530	TCTA	-	91348527	7	5	291	1	0	1	0	1	0	0	0	0	11418	1667	58	0	185	0	PANK1	10	91348527	Frame_Shift_Del	DEL	TCTA	TCGA-B8-5553-01A-01D-1534-10	30792346	91348527	44186220	21	17255											
KBTBD4	55709	hgsc.bcm.edu;ucsc.edu	37	11	47599226	47599226	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr11:47599226T>G	ENST00000526005.1	-	2	479	c.326A>C	c.(325-327)aAa>aCa	p.K109T	NDUFS3_ENST00000528192.1_5'Flank|KBTBD4_ENST00000450908.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000395288.2_Missense_Mutation_p.K109T|NDUFS3_ENST00000529276.1_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.K125T|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000533290.1_Missense_Mutation_p.K134T|KBTBD4_ENST00000525720.1_Missense_Mutation_p.K158T|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000534208.1_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	109	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						AGCTCGAAGTTTCACAGTCCC	0.498																																																0													104	108	106					11																	47599226		2201	4298	6499	SO:0001583	missense	55709			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.326A>C	11.37:g.47599226T>G	ENSP00000433340:p.Lys109Thr		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299415	0.60195	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.53	4.39	0.52855	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	N	0.12569	0.235	0.58432	D	0.999995	D;P;D	0.56746	0.971;0.872;0.977	P;B;P	0.50231	0.501;0.399;0.635	T	0.42275	-0.9461	10	0.21540	T	0.41	-13.8976	11.6822	0.51463	0.0:0.071:0.0:0.929	.	125;109;134	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	T	109;134;109;125;125;158;109;109;109;134	ENSP00000433340:K109T;ENSP00000436713:K134T;ENSP00000378703:K109T;ENSP00000415106:K125T;ENSP00000434477:K158T;ENSP00000433404:K109T;ENSP00000433653:K109T;ENSP00000435651:K109T;ENSP00000433124:K134T	ENSP00000352971:K125T	K	-	2	0	KBTBD4	47555802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.894000	0.69806	2.092000	0.63282	0.459000	0.35465	AAA		0.498	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		G	47599226	T	G	47599226	3	3	291	1	0	0	0	0	1	0	0	0	7997	1841	64	5	1242	5	KBTBD4	11	47599226	Missense_Mutation	SNP	T	TCGA-B8-5553-01A-01D-1534-10		47599226	87407290	22	17256											
SLC22A6	9356	hgsc.bcm.edu;ucsc.edu	37	11	62751877	62751877	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr11:62751877C>T	ENST00000377871.3	-	1	552	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	SLC22A6_ENST00000360421.4_Missense_Mutation_p.A96T|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Missense_Mutation_p.A96T|SLC22A6_ENST00000458333.2_Missense_Mutation_p.A96T	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	96					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTGCCATTGGCTTCTGTGCCA	0.637																																																0													91	89	90					11																	62751877		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.286G>A	11.37:g.62751877C>T	ENSP00000367102:p.Ala96Thr		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	3.773	-0.047313	0.07407	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.71	0.257	0.15574	Major facilitator superfamily domain (1);	1.348330	0.04393	N	0.362828	T	0.18551	0.0445	N	0.01464	-0.85	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.12837	0.008;0.005;0.003;0.007	T	0.19224	-1.0312	10	0.11485	T	0.65	.	4.3322	0.11069	0.0:0.3949:0.3184:0.2867	.	96;96;96;96	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	T	96;75;96;96;96	ENSP00000353597:A96T;ENSP00000367102:A96T;ENSP00000396401:A96T;ENSP00000404441:A96T	ENSP00000353597:A96T	A	-	1	0	SLC22A6	62508453	0.000000	0.05858	0.022000	0.16811	0.899000	0.52679	-1.506000	0.02271	0.180000	0.19960	0.557000	0.71058	GCC		0.637	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		T	62751877	C	T	62751877	3	4	291	1	0	0	0	0	1	0	0	0	14464	797	28	2	1445	2	SLC22A6	11	62751877	Missense_Mutation	SNP	C	TCGA-B8-5553-01A-01D-1534-10	15152651	62751877	72254639	23	17257											
SLC22A8	9376	hgsc.bcm.edu;ucsc.edu	37	11	62782189	62782189	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr11:62782189T>C	ENST00000336232.2	-	2	377	c.242A>G	c.(241-243)aAt>aGt	p.N81S	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000430500.2_Missense_Mutation_p.N81S|SLC22A8_ENST00000311438.8_Missense_Mutation_p.N81S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	81					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CAGGCTGGCATTGGGCGGATG	0.612																																																0													170	171	170					11																	62782189		2201	4298	6499	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.242A>G	11.37:g.62782189T>C	ENSP00000337335:p.Asn81Ser		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.366212	0.61513	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000311438;ENST00000430500	D;D;D	0.82803	-1.65;-1.65;-1.65	5.14	5.14	0.70334	.	0.332281	0.32548	N	0.005948	D	0.85353	0.5677	L	0.39085	1.19	0.23440	N	0.997675	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.983	T	0.76501	-0.2936	10	0.25106	T	0.35	.	12.9647	0.58478	0.0:0.0:0.0:1.0	.	81;81	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	S	81;67;81;81	ENSP00000337335:N81S;ENSP00000311463:N81S;ENSP00000398548:N81S	ENSP00000311463:N81S	N	-	2	0	SLC22A8	62538765	0.982000	0.34865	0.837000	0.33122	0.728000	0.41692	2.069000	0.41481	2.148000	0.66965	0.533000	0.62120	AAT		0.612	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		C	62782189	T	C	62782189	3	2	291	1	0	0	0	0	1	0	0	0	14466	1493	52	3	1426	3	SLC22A8	11	62782189	Missense_Mutation	SNP	T	TCGA-B8-5553-01A-01D-1534-10	30312	62782189	72224327	24	17258											
UCP2	7351	hgsc.bcm.edu;ucsc.edu	37	11	73686108	73686108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr11:73686108C>A	ENST00000310473.3	-	8	1716	c.874G>T	c.(874-876)Gag>Tag	p.E292*	UCP2_ENST00000536983.1_3'UTR	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	292	Purine nucleotide binding. {ECO:0000250}.				aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					TTCAGCTGCTCATAGGTGACG	0.567																																					Colon(191;388 2040 43557 45622 48925)											0													91	82	85					11																	73686108		2200	4293	6493	SO:0001587	stop_gained	7351			U76367	CCDS8228.1	11q13	2014-02-12						"Solute carriers"	12518	protein-coding gene	gene with protein product		601693	"body mass index QTL 4", "body mass index quantitative trait 4"	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.874G>T	11.37:g.73686108C>A	ENSP00000312029:p.Glu292*		Q4PJH8|Q53HM3	Nonsense_Mutation	SNP	ENST00000310473.3	37	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539340	0.96474	.	.	ENSG00000175567	ENST00000310473;ENST00000544615	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.8528	18.9492	0.92635	0.0:1.0:0.0:0.0	.	.	.	.	X	292;265	.	ENSP00000312029:E292X	E	-	1	0	UCP2	73363756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.691000	0.84191	2.825000	0.97269	0.655000	0.94253	GAG		0.567	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		A	73686108	C	A	73686108	4	1	291	1	0	0	0	0	0	1	0	0	16936	835	29	4	59	4	UCP2	11	73686108	Nonsense_Mutation	SNP	C	TCGA-B8-5553-01A-01D-1534-10	10903919	73686108	61320408	25	17259											
AMN1	196394	hgsc.bcm.edu;ucsc.edu	37	12	31850698	31850698	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr12:31850698C>G	ENST00000281471.6	-	4	675	c.510G>C	c.(508-510)caG>caC	p.Q170H	AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000542781.1_5'UTR|AMN1_ENST00000536761.1_Missense_Mutation_p.Q152H|AMN1_ENST00000537562.1_Missense_Mutation_p.Q152H	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	170										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			AGTCGACACACTGCAAAAATG	0.368																																																0													103	96	98					12																	31850698		1891	4132	6023	SO:0001583	missense	196394				CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.510G>C	12.37:g.31850698C>G	ENSP00000281471:p.Gln170His		B7Z7J3|Q6NVU4|Q86X98	Missense_Mutation	SNP	ENST00000281471.6	37	CCDS44858.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447139	0.25987	.	.	ENSG00000151743	ENST00000281471;ENST00000537562;ENST00000536761;ENST00000535408	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	5.53	2.69	0.31865	.	0.236449	0.36703	N	0.002453	T	0.02533	0.0077	L	0.40543	1.245	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.49634	-0.8919	10	0.41790	T	0.15	.	2.862	0.05590	0.1208:0.5264:0.131:0.2218	.	170	Q8IY45	AMN1_HUMAN	H	170;152;152;152	ENSP00000281471:Q170H;ENSP00000441419:Q152H;ENSP00000440967:Q152H;ENSP00000438990:Q152H	ENSP00000281471:Q170H	Q	-	3	2	AMN1	31741965	0.993000	0.37304	0.998000	0.56505	0.982000	0.71751	0.101000	0.15251	0.680000	0.31366	0.455000	0.32223	CAG		0.368	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402807.2	NR_004854		G	31850698	C	G	31850698	3	3	291	1	0	0	0	0	1	0	0	0	581	564	20	4	282	4	AMN1	12	31850698	Missense_Mutation	SNP	C	TCGA-B8-5553-01A-01D-1534-10		31850698	102001197	26	17260											
DDX55	57696	hgsc.bcm.edu;ucsc.edu	37	12	124104644	124104645	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr12:124104644_124104645delAG	ENST00000238146.4	+	14	1810_1811	c.1760_1761delAG	c.(1759-1761)aagfs	p.K587fs	DDX55_ENST00000421670.3_Frame_Shift_Del_p.K194fs|DDX55_ENST00000538744.1_Frame_Shift_Del_p.K556fs	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	587						membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AGAACAATCAAGACAGTGGATT	0.411																																																0																																										SO:0001589	frameshift_variant	57696			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1760_1761delAG	12.37:g.124104644_124104645delAG	ENSP00000238146:p.Lys587fs		Q658L6|Q8IYH0|Q9HCH7	Frame_Shift_Del	DEL	ENST00000238146.4	37	CCDS9251.1																																																																																				0.411	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			-	124104645	AG	-	124104644	7	5	291	1	0	1	0	1	0	0	0	0	4375	72	3	0	1814	0	DDX55	12	124104644	Frame_Shift_Del	DEL	AG	TCGA-B8-5553-01A-01D-1534-10	92253946	124104644	9747251	27	17261											
IPO5	3843	hgsc.bcm.edu;ucsc.edu	37	13	98666445	98666445	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr13:98666445G>A	ENST00000490680.1	+	19	2367	c.2302G>A	c.(2302-2304)Gaa>Aaa	p.E768K	IPO5_ENST00000261574.5_Missense_Mutation_p.E786K|IPO5_ENST00000539640.1_Missense_Mutation_p.E643K			O00410	IPO5_HUMAN	importin 5	768					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CGTCCTCTCAGAAATAATGCA	0.333																																																0													97	94	95					13																	98666445		2203	4300	6503	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2302G>A	13.37:g.98666445G>A	ENSP00000418393:p.Glu768Lys		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.	.	.	.	.	.	.	.	.	.	G	26.2	4.716662	0.89205	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.10668	2.85;2.86;2.86;2.85	5.81	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	M	0.82323	2.585	0.80722	D	1	B	0.33807	0.426	B	0.38985	0.287	T	0.02144	-1.1206	10	0.62326	D	0.03	-5.0632	14.6275	0.68632	0.0697:0.0:0.9303:0.0	.	786	O00410-3	.	K	786;768;768;643	ENSP00000261574:E786K;ENSP00000350219:E768K;ENSP00000418393:E768K;ENSP00000445126:E643K	ENSP00000261574:E786K	E	+	1	0	IPO5	97464446	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.547000	0.82146	1.461000	0.47929	0.655000	0.94253	GAA		0.333	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		A	98666445	G	A	98666445	3	1	291	1	0	0	0	0	1	0	0	0	7798	943	33	2	2434	2	IPO5	13	98666445	Missense_Mutation	SNP	G	TCGA-B8-5553-01A-01D-1534-10		98666445	16503433	28	17262											
OR4K5	79317	hgsc.bcm.edu;ucsc.edu	37	14	20389123	20389123	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr14:20389123T>C	ENST00000315915.4	+	1	383	c.358T>C	c.(358-360)Tat>Cat	p.Y120H		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCGATGGCCTATGACAGGTA	0.458																																																0													220	223	222					14																	20389123		2203	4300	6503	SO:0001583	missense	79317			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.358T>C	14.37:g.20389123T>C	ENSP00000319511:p.Tyr120His		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	17.54	3.415339	0.62511	.	.	ENSG00000176281	ENST00000315915	T	0.00487	7.05	4.41	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000336	T	0.01287	0.0042	M	0.87827	2.91	0.30384	N	0.781659	D	0.76494	0.999	D	0.64687	0.928	T	0.03344	-1.1046	10	0.87932	D	0	.	8.5434	0.33406	0.1721:0.0:0.0:0.8279	.	120	Q8NGD3	OR4K5_HUMAN	H	120	ENSP00000319511:Y120H	ENSP00000319511:Y120H	Y	+	1	0	OR4K5	19458963	0.998000	0.40836	1.000000	0.80357	0.878000	0.50629	3.504000	0.53347	1.838000	0.53458	0.533000	0.62120	TAT		0.458	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		C	20389123	T	C	20389123	3	2	291	1	0	0	0	0	1	0	0	0	11075	1522	53	3	360	3	OR4K5	14	20389123	Missense_Mutation	SNP	T	TCGA-B8-5553-01A-01D-1534-10		20389123	86960417	29	17263											
GABPB1	2553	hgsc.bcm.edu;ucsc.edu	37	15	50596162	50596162	+	Splice_Site	SNP	C	C	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr15:50596162C>A	ENST00000220429.8	-	3	445		c.e3+1		GABPB1_ENST00000429662.2_Splice_Site|GABPB1_ENST00000396464.3_Splice_Site|GABPB1_ENST00000560825.1_Splice_Site|GABPB1_ENST00000543881.1_Splice_Site|GABPB1_ENST00000380877.3_Splice_Site|GABPB1_ENST00000359031.4_Splice_Site			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						AGAACACATACCTTAAGTAAA	0.393																																																0													155	129	138					15																	50596162		2196	4295	6491	SO:0001630	splice_region_variant	2553			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"Ankyrin repeat domain containing"	4074	protein-coding gene	gene with protein product		600610	"GA binding protein transcription factor, beta subunit 2"	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.276+1G>T	15.37:g.50596162C>A			A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Splice_Site	SNP	ENST00000220429.8	37	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998374	0.74818	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3599	0.94432	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABPB1	48383454	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.748000	0.85085	2.646000	0.89796	0.563000	0.77884	.		0.393	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		Intron	A	50596162	C	A	50596162	5	1	291	1	0	0	0	0	0	0	1	0	6160	521	18	4	986	4	GABPB1	15	50596162	Splice_Site	SNP	C	TCGA-B8-5553-01A-01D-1534-10		50596162	51935230	30	17264											
MYO5C	55930	hgsc.bcm.edu;ucsc.edu	37	15	52505431	52505431	+	Silent	SNP	T	T	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr15:52505431T>C	ENST00000261839.7	-	34	4256	c.4095A>G	c.(4093-4095)caA>caG	p.Q1365Q		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1365						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCTCTTGTATTGCAGCATTC	0.443																																																0													111	101	104					15																	52505431		1924	4133	6057	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4095A>G	15.37:g.52505431T>C			Q6P1W8	Silent	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.443	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		C	52505431	T	C	52505431	2	2	291	1	0	0	0	0	0	0	0	1	10082	1490	52	3		3	MYO5C	15	52505431	Silent	SNP	T	TCGA-B8-5553-01A-01D-1534-10	1909269	52505431	50025961	31	17265											
HERC1	8925	hgsc.bcm.edu;ucsc.edu	37	15	63930676	63930676	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr15:63930676C>G	ENST00000443617.2	-	63	12114	c.12027G>C	c.(12025-12027)caG>caC	p.Q4009H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4009					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTCTGCCAGCTGTCCATGCC	0.443																																																0													122	118	119					15																	63930676		1970	4138	6108	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12027G>C	15.37:g.63930676C>G	ENSP00000390158:p.Gln4009His		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638171	0.67130	.	.	ENSG00000103657	ENST00000443617	D	0.90788	-2.73	5.42	3.52	0.40303	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	U	0.000001	D	0.93436	0.7906	M	0.71036	2.16	0.48632	D	0.999682	D	0.65815	0.995	D	0.68621	0.959	D	0.93175	0.6569	10	0.87932	D	0	.	9.2934	0.37800	0.0:0.6684:0.0:0.3316	.	4009	Q15751	HERC1_HUMAN	H	4009	ENSP00000390158:Q4009H	ENSP00000390158:Q4009H	Q	-	3	2	HERC1	61717729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.030000	0.30153	1.298000	0.44778	0.591000	0.81541	CAG		0.443	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		G	63930676	C	G	63930676	3	3	291	1	0	0	0	0	1	0	0	0	7059	796	28	4	2622	4	HERC1	15	63930676	Missense_Mutation	SNP	C	TCGA-B8-5553-01A-01D-1534-10	11425245	63930676	38600716	32	17266											
PALB2	79728	hgsc.bcm.edu;ucsc.edu	37	16	23647615	23647615	+	Silent	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr16:23647615G>T	ENST00000261584.4	-	4	404	c.252C>A	c.(250-252)atC>atA	p.I84I		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	84	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GATGGGTTTTGATGTGTAACT	0.328			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0													50	49	50					16																	23647615		2197	4300	6497	SO:0001819	synonymous_variant	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.252C>A	16.37:g.23647615G>T			A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	CCDS32406.1																																																																																				0.328	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		T	23647615	G	T	23647615	2	4	291	1	0	0	0	0	0	0	0	1	11408	1280	45	4		4	PALB2	16	23647615	Silent	SNP	G	TCGA-B8-5553-01A-01D-1534-10		23647615	66707138	33	17267											
FUS	2521	hgsc.bcm.edu;ucsc.edu	37	16	31202109	31202110	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr16:31202109_31202110TG>GT	ENST00000254108.7	+	13	1444_1445	c.1339_1340TG>GT	c.(1339-1341)TGt>GTt	p.C447V	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Missense_Mutation_p.C446V|FUS_ENST00000568685.1_Missense_Mutation_p.C448V	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	447	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ATGCAACCAGTGTAAGGCCCCT	0.52			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																		Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	0																																										SO:0001583	missense	2521			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	Exception_encountered	16.37:g.31202109_31202110delinsGT	ENSP00000254108:p.Cys447Val		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	CCDS10707.1																																																																																				0.52	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		GT	31202110	TG	GT	31202109	3	3	291	1	0	0	0	0	1	0	0	0	6102	1696	59	5	1389	5	FUS	16	31202109	Missense_Mutation	DNP	TG	TCGA-B8-5553-01A-01D-1534-10	7554494	31202109	59152644	34	17268	133	3									
FUS	2521	hgsc.bcm.edu	37	16	31202112	31202112	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr16:31202112A>T	ENST00000254108.7	+	13	1447	c.1342A>T	c.(1342-1344)Aag>Tag	p.K448*	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Nonsense_Mutation_p.K447*|FUS_ENST00000568685.1_Nonsense_Mutation_p.K449*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	448	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CAACCAGTGTAAGGCCCCTAA	0.517			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																		Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	0													69	72	71					16																	31202112		2197	4300	6497	SO:0001587	stop_gained	2521			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1342A>T	16.37:g.31202112A>T	ENSP00000254108:p.Lys448*		Q9H4A8	Nonsense_Mutation	SNP	ENST00000254108.7	37	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	A	37	6.445189	0.97572	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.602	14.3269	0.66526	1.0:0.0:0.0:0.0	.	.	.	.	X	448;377	.	ENSP00000254108:K448X	K	+	1	0	FUS	31109613	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.972000	0.63756	2.025000	0.59659	0.482000	0.46254	AAG		0.517	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		T	31202112	A	T	31202112	4	4	291	1	0	0	0	0	0	1	0	0	6102	363	13	5	1392	5	FUS	16	31202112	Nonsense_Mutation	SNP	A	TCGA-B8-5553-01A-01D-1534-10	3	31202112	59152641	35	17269	133	3									
FUS	2521	hgsc.bcm.edu;ucsc.edu	37	16	31202116	31202116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr16:31202116delC	ENST00000254108.7	+	13	1451	c.1346delC	c.(1345-1347)gccfs	p.A449fs	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Frame_Shift_Del_p.A448fs|FUS_ENST00000568685.1_Frame_Shift_Del_p.A450fs	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	449	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CAGTGTAAGGCCCCTAAACCA	0.507			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																		Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	0													68	71	70					16																	31202116		2197	4300	6497	SO:0001589	frameshift_variant	2521			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1346delC	16.37:g.31202116delC	ENSP00000254108:p.Ala449fs		Q9H4A8	Frame_Shift_Del	DEL	ENST00000254108.7	37	CCDS10707.1																																																																																				0.507	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		-	31202116	C	-	31202116	7	5	291	1	0	1	0	1	0	0	0	0	6102	739	26	0	1396	0	FUS	16	31202116	Frame_Shift_Del	DEL	C	TCGA-B8-5553-01A-01D-1534-10	4	31202116	59152637	36	17270	133	3									
RPL27	6155	hgsc.bcm.edu;ucsc.edu	37	17	41154694	41154694	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr17:41154694T>A	ENST00000589913.1	+	3	530	c.256T>A	c.(256-258)Tct>Act	p.S86T	RPL27_ENST00000590864.1_Missense_Mutation_p.S30T|RPL27_ENST00000589037.1_Missense_Mutation_p.S86T|RPL27_ENST00000253788.5_Missense_Mutation_p.S86T			P61353	RL27_HUMAN	ribosomal protein L27	86					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CCCCAGGTACTCTGTGGATAT	0.532																																																0													72	71	71					17																	41154694		2203	4300	6503	SO:0001583	missense	6155				CCDS11449.1	17q21	2011-04-06				ENSG00000131469		"L ribosomal proteins"	10328	protein-coding gene	gene with protein product	"60S ribosomal protein L27"	607526				1302024	Standard	NM_000988		Approved	L27	uc002icj.3	P61353		ENST00000589913.1:c.256T>A	17.37:g.41154694T>A	ENSP00000464813:p.Ser86Thr		P08526|Q4G0A9	Missense_Mutation	SNP	ENST00000589913.1	37	CCDS11449.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.952161	0.34471	.	.	ENSG00000131469	ENST00000253788	.	.	.	5.52	5.52	0.82312	Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	L	0.46819	1.47	0.80722	D	1	B	0.22983	0.078	B	0.25614	0.062	T	0.51132	-0.8744	9	0.08381	T	0.77	-15.18	15.9347	0.79694	0.0:0.0:0.0:1.0	.	86	P61353	RL27_HUMAN	T	86	.	ENSP00000253788:S86T	S	+	1	0	RPL27	38408220	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.040000	0.89188	2.221000	0.72209	0.528000	0.53228	TCT		0.532	RPL27-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452472.1	NM_000988		A	41154694	T	A	41154694	3	1	291	1	0	0	0	0	1	0	0	0	13581	1551	54	5	266	5	RPL27	17	41154694	Missense_Mutation	SNP	T	TCGA-B8-5553-01A-01D-1534-10		41154694	40040516	37	17271											
CANT1	124583	hgsc.bcm.edu;ucsc.edu	37	17	76991241	76991241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr17:76991241C>A	ENST00000302345.2	-	3	1188	c.694G>T	c.(694-696)Gag>Tag	p.E232*	CANT1_ENST00000591773.1_Nonsense_Mutation_p.E232*|CANT1_ENST00000392446.5_Nonsense_Mutation_p.E232*	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	232					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GTCGTCCACTCCTTGCCCAGG	0.627			T	ETV4	prostate																																		Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	0													104	80	88					17																	76991241		2203	4300	6503	SO:0001587	stop_gained	124583			AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.694G>T	17.37:g.76991241C>A	ENSP00000307674:p.Glu232*		B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Nonsense_Mutation	SNP	ENST00000302345.2	37	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	C	41	8.707024	0.98922	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	.	.	.	4.8	4.8	0.61643	.	0.047663	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.1464	17.8519	0.88750	0.0:1.0:0.0:0.0	.	.	.	.	X	232;232;181	.	ENSP00000307674:E232X	E	-	1	0	CANT1	74502836	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.260000	0.78391	2.213000	0.71641	0.462000	0.41574	GAG		0.627	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		A	76991241	C	A	76991241	4	1	291	1	0	0	0	0	0	1	0	0	2619	864	30	4	519	4	CANT1	17	76991241	Nonsense_Mutation	SNP	C	TCGA-B8-5553-01A-01D-1534-10	35836547	76991241	4203969	38	17272											
PIAS2	9063	hgsc.bcm.edu;ucsc.edu	37	18	44424802	44424803	+	Splice_Site	DEL	TC	TC	-			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr18:44424802_44424803delTC	ENST00000585916.1	-	7	861	c.862delGA	c.(862-864)gaa>aa	p.E288fs	PIAS2_ENST00000324794.7_Splice_Site_p.E288fs|PIAS2_ENST00000545673.1_5'UTR	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	288	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ATAGAGTAATTCTACAAACAAA	0.302																																																0																																										SO:0001630	splice_region_variant	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.862-1GA>-	18.37:g.44424802_44424803delTC			O75927|Q96BT5|Q96KE3	Frame_Shift_Del	DEL	ENST00000585916.1	37	CCDS32824.1																																																																																				0.302	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671	Frame_Shift_Del	-	44424803	TC	-	44424802	8	5	291	1	0	1	0	1	0	0	1	0	11878	1797	62	0	1110	0	PIAS2	18	44424802	Splice_Site	DEL	TC	TCGA-B8-5553-01A-01D-1534-10		44424802	33652446	39	17273											
PIK3R2	5296	hgsc.bcm.edu;ucsc.edu	37	19	18273796	18273796	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr19:18273796C>A	ENST00000593731.1	+	10	1689	c.1129C>A	c.(1129-1131)Ctg>Atg	p.L377M	PIK3R2_ENST00000222254.8_Missense_Mutation_p.L377M			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	377	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GAACAATAAGCTGATCAAGGT	0.567																																																0													102	82	89					19																	18273796		2203	4300	6503	SO:0001583	missense	5296				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1129C>A	19.37:g.18273796C>A	ENSP00000471914:p.Leu377Met		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356421	0.24598	.	.	ENSG00000105647	ENST00000222254	T	0.63255	-0.03	3.69	0.00261	0.14051	SH2 motif (4);	0.157254	0.43110	D	0.000611	T	0.76026	0.3930	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.73553	-0.3946	10	0.87932	D	0	-18.9996	6.4773	0.22043	0.0:0.6175:0.132:0.2505	.	377	O00459	P85B_HUMAN	M	377	ENSP00000222254:L377M	ENSP00000222254:L377M	L	+	1	2	PIK3R2	18134796	1.000000	0.71417	0.358000	0.25811	0.003000	0.03518	1.622000	0.36997	0.001000	0.14605	-0.291000	0.09656	CTG		0.567	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		A	18273796	C	A	18273796	3	1	291	1	0	0	0	0	1	0	0	0	11921	796	28	4	1163	4	PIK3R2	19	18273796	Missense_Mutation	SNP	C	TCGA-B8-5553-01A-01D-1534-10		18273796	40855187	40	17274											
FXYD1	5348	hgsc.bcm.edu;ucsc.edu	37	19	35632104	35632104	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr19:35632104G>T	ENST00000588081.1	+	3	221	c.163G>T	c.(163-165)Gtg>Ttg	p.V55L	FXYD1_ENST00000351325.4_Missense_Mutation_p.V55L|FXYD1_ENST00000588715.1_Missense_Mutation_p.V55L|FXYD1_ENST00000455515.2_Missense_Mutation_p.V55L|LGI4_ENST00000493050.1_Intron|FXYD1_ENST00000589209.1_Missense_Mutation_p.V55L|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD7_ENST00000586063.1_5'Flank|FXYD7_ENST00000588265.1_5'Flank|FXYD7_ENST00000270310.2_5'Flank|FXYD1_ENST00000588607.1_Missense_Mutation_p.V55L			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	55					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)	chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CATCCTCATCGTGCTGAGTGA	0.672																																																0													95	69	77					19																	35632104		2203	4300	6503	SO:0001583	missense	5348				CCDS12445.1	19q13.1	2008-08-01	2008-08-01			ENSG00000266964			4025	protein-coding gene	gene with protein product		602359	"phospholemman"	PLM		9169143	Standard	NM_005031		Approved		uc002nyc.3	O00168		ENST00000588081.1:c.163G>T	19.37:g.35632104G>T	ENSP00000467727:p.Val55Leu		A8K196	Missense_Mutation	SNP	ENST00000588081.1	37	CCDS12445.1	.	.	.	.	.	.	.	.	.	.	G	9.608	1.130447	0.21041	.	.	ENSG00000221857	ENST00000351325;ENST00000455515	T;T	0.59638	0.25;0.25	4.28	-4.77	0.03219	.	0.659026	0.12331	N	0.478392	T	0.38532	0.1044	.	.	.	0.25277	N	0.989463	B	0.29988	0.264	B	0.31547	0.132	T	0.28554	-1.0040	9	0.22706	T	0.39	-6.1526	11.8531	0.52422	0.8471:0.0:0.1529:0.0	.	55	O00168	PLM_HUMAN	L	55	ENSP00000343314:V55L;ENSP00000393611:V55L	ENSP00000343314:V55L	V	+	1	0	FXYD1	40323944	0.956000	0.32656	0.510000	0.27712	0.772000	0.43724	0.063000	0.14410	-0.692000	0.05128	0.478000	0.44815	GTG		0.672	FXYD1-007	KNOWN	alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460761.1	NM_021902		T	35632104	G	T	35632104	3	4	291	1	0	0	0	0	1	0	0	0	6119	1145	40	4	173	4	FXYD1	19	35632104	Missense_Mutation	SNP	G	TCGA-B8-5553-01A-01D-1534-10	17358308	35632104	23496879	41	17275											
ZNF415	55786	hgsc.bcm.edu	37	19	53611977	53611977	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr19:53611977T>A	ENST00000500065.4	-	4	1654	c.1321A>T	c.(1321-1323)Aag>Tag	p.K441*	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000455735.2_Nonsense_Mutation_p.K489*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.K453*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.K428*|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.K489*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.K211*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.K441*|ZNF415_ENST00000595193.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TCATTACACTTGTAAGGTTTC	0.413																																																0													155	144	148					19																	53611977		2203	4300	6503	SO:0001587	stop_gained	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1321A>T	19.37:g.53611977T>A	ENSP00000439435:p.Lys441*		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	T	36	5.869266	0.97049	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.61	-0.822	0.10819	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999964	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.5776	0.00706	0.1727:0.2375:0.176:0.4139	.	.	.	.	X	441;441;489;453;489;428	.	ENSP00000243643:K441X	K	-	1	0	ZNF415	58303789	0.000000	0.05858	0.000000	0.03702	0.620000	0.37586	-1.276000	0.02815	-0.102000	0.12197	0.260000	0.18958	AAG		0.413	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		A	53611977	T	A	53611977	4	1	291	1	0	0	0	0	0	1	0	0	17897	1821	63	5	350	5	ZNF415	19	53611977	Nonsense_Mutation	SNP	T	TCGA-B8-5553-01A-01D-1534-10	17979873	53611977	5517006	42	17276											
MYH7B	57644	hgsc.bcm.edu;ucsc.edu	37	20	33567237	33567237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr20:33567237G>T	ENST00000262873.7	+	4	354	c.262G>T	c.(262-264)Gag>Tag	p.E88*		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	46	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCCTACGTGGAGGCCGAGGT	0.602																																																0													41	48	45					20																	33567237		2018	4192	6210	SO:0001587	stop_gained	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.262G>T	20.37:g.33567237G>T	ENSP00000262873:p.Glu88*		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Nonsense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	35	5.527859	0.96446	.	.	ENSG00000078814	ENST00000262873	.	.	.	4.87	3.92	0.45320	.	0.564328	0.14167	N	0.336972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6142	0.62097	0.0757:0.0:0.9243:0.0	.	.	.	.	X	88	.	ENSP00000262873:E88X	E	+	1	0	MYH7B	33030898	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.455000	0.60075	1.268000	0.44264	0.561000	0.74099	GAG		0.602	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		T	33567237	G	T	33567237	4	4	291	1	0	0	0	0	0	1	0	0	10042	1175	41	4	276	4	MYH7B	20	33567237	Nonsense_Mutation	SNP	G	TCGA-B8-5553-01A-01D-1534-10		33567237	29458283	43	17277											
NHS	4810	hgsc.bcm.edu;ucsc.edu	37	X	17745494	17745494	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chrX:17745494G>C	ENST00000380060.3	+	6	3543	c.3205G>C	c.(3205-3207)Gat>Cat	p.D1069H	NHS_ENST00000398097.3_Missense_Mutation_p.D913H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1090					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TACCCATCTTGATCTAAGTGC	0.393																																																0													183	169	174					X																	17745494		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3205G>C	X.37:g.17745494G>C	ENSP00000369400:p.Asp1069His		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289968	0.59976	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.52754	0.65;0.68	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.73304	-0.4025	10	0.72032	D	0.01	-21.7951	19.1834	0.93632	0.0:0.0:1.0:0.0	.	1090;911;913;1069	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	H	1069;913;911	ENSP00000369400:D1069H;ENSP00000381170:D913H	ENSP00000369397:D911H	D	+	1	0	NHS	17655415	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.482000	0.83794	0.544000	0.68410	GAT		0.393	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		C	17745494	G	C	17745494	3	2	291	1	0	0	0	0	1	0	0	0	10413	1290	45	4	3332	4	NHS	23	17745494	Missense_Mutation	SNP	G	TCGA-B8-5553-01A-01D-1534-10		17745494	137525066	44	17278											
FAM48B1	100130302	hgsc.bcm.edu	37	X	24381736	24381736	+	IGR	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chrX:24381736G>T								AC004552.1 (14713 upstream) : PDK3 (101601 downstream)														p.G394R(1)									TGCTAAAGCAGGAAGTTGTGT	0.498																																																1	Substitution - Missense(1)	skin(1)											179	143	154					X																	24381736		1568	3582	5150	SO:0001628	intergenic_variant	0																															X.37:g.24381736G>T				Nonsense_Mutation	SNP		37																																																																																				0	0.498									T	24381736	G	T	24381736	1	4	291	0	1	0	0	0	0	0	0	0	5575	1001	35	4		4	FAM48B1	23	24381736	IGR	SNP	G	TCGA-B8-5553-01A-01D-1534-10	6636242	24381736	130888824	45	17279											
BRWD3	254065	hgsc.bcm.edu;ucsc.edu	37	X	79941024	79941024	+	Silent	SNP	C	C	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chrX:79941024C>T	ENST00000373275.4	-	36	4233	c.4017G>A	c.(4015-4017)gaG>gaA	p.E1339E	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1339	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCCCTCTTGCTCCTGATGAC	0.378																																																0													88	66	73					X																	79941024		2203	4299	6502	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4017G>A	X.37:g.79941024C>T			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	CCDS14447.1																																																																																				0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		T	79941024	C	T	79941024	2	4	291	1	0	0	0	0	0	0	0	1	1528	796	28	2		2	BRWD3	23	79941024	Silent	SNP	C	TCGA-B8-5553-01A-01D-1534-10	55559288	79941024	75329536	46	17280											
MTOR	2475	hgsc.bcm.edu	37	1	11273603	11273603	+	Silent	SNP	G	G	C			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr1:11273603G>C	ENST00000361445.4	-	21	3214	c.3138C>G	c.(3136-3138)acC>acG	p.T1046T		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1046					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCTGAATTGAGGTGTTCATGA	0.458																																																0													97	98	98					1																	11273603		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3138C>G	chr1.hg19:g.11273603G>C			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	hg19	CCDS127.1																																																																																				0.458	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		C	11273603	G	C	11273603	2	2	292	1	0	0	0	0	0	0	0	1	9956	987	35	4		4	MTOR	1	11273603	Silent	SNP	G	TCGA-B9-4113-01A-01D-1252-08		11273603	237977018	1	17281											
UBR4	23352	hgsc.bcm.edu	37	1	19490300	19490300	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr1:19490300C>G	ENST00000375254.3	-	34	4749	c.4722G>C	c.(4720-4722)aaG>aaC	p.K1574N	UBR4_ENST00000375226.2_Missense_Mutation_p.K1574N|UBR4_ENST00000375267.2_Missense_Mutation_p.K1574N|UBR4_ENST00000375217.2_Missense_Mutation_p.K1574N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1574					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAACTACATTCTTCTGTGACA	0.403																																																0													191	172	178					1																	19490300		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4722G>C	chr1.hg19:g.19490300C>G	ENSP00000364403:p.Lys1574Asn		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698108	0.68386	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.15	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	L	0.39898	1.24	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.73040	-0.4108	10	0.49607	T	0.09	.	12.9635	0.58472	0.0:0.9263:0.0:0.0737	.	1574	Q5T4S7	UBR4_HUMAN	N	1574;1574;1574;1574;284;790	ENSP00000364403:K1574N;ENSP00000364416:K1574N;ENSP00000364365:K1574N;ENSP00000364374:K1574N;ENSP00000404897:K284N	ENSP00000364365:K1574N	K	-	3	2	UBR4	19362887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.411000	0.59781	2.674000	0.91012	0.655000	0.94253	AAG		0.403	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19490300	C	G	19490300	3	3	292	1	0	0	0	0	1	0	0	0	16909	912	32	4	11121	4	UBR4	1	19490300	Missense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08	8216697	19490300	229760321	2	17282											
EPHA8	2046	hgsc.bcm.edu	37	1	22927186	22927186	+	Silent	SNP	A	A	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr1:22927186A>T	ENST00000166244.3	+	14	2493	c.2421A>T	c.(2419-2421)ccA>ccT	p.P807P		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	807	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGACGGCCCCAGAGGCCATCG	0.682																																																0													58	61	60					1																	22927186		2203	4299	6502	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2421A>T	chr1.hg19:g.22927186A>T			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	hg19	CCDS225.1																																																																																				0.682	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		T	22927186	A	T	22927186	2	4	292	1	0	0	0	0	0	0	0	1	5175	175	7	5		5	EPHA8	1	22927186	Silent	SNP	A	TCGA-B9-4113-01A-01D-1252-08	3436886	22927186	226323435	3	17283											
ZMYM6	9204	hgsc.bcm.edu	37	1	35457962	35457962	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr1:35457962delT	ENST00000357182.4	-	15	2246	c.2019delA	c.(2017-2019)aaafs	p.K673fs	ZMYM6_ENST00000487874.1_Frame_Shift_Del_p.K673fs|ZMYM6_ENST00000373340.2_Frame_Shift_Del_p.K673fs|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	673					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAGATGGAAATTTCATAGCAT	0.383																																																0													150	142	145					1																	35457962		2203	4300	6503	SO:0001589	frameshift_variant	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2019delA	chr1.hg19:g.35457962delT	ENSP00000349708:p.Lys673fs		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Frame_Shift_Del	DEL	ENST00000357182.4	hg19	CCDS387.2																																																																																				0.383	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		-	35457962	T	-	35457962	7	5	292	1	0	1	0	1	0	0	0	0	17709	1490	52	0	1966	0	ZMYM6	1	35457962	Frame_Shift_Del	DEL	T	TCGA-B9-4113-01A-01D-1252-08	12530776	35457962	213792659	4	17284											
MCOLN3	55283	hgsc.bcm.edu	37	1	85487988	85487988	+	Missense_Mutation	SNP	C	C	A	rs375444573		TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr1:85487988C>A	ENST00000370589.2	-	10	1243	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.K341N|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	397					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TTACGTTGTACTTTGCAAAGA	0.433																																																0													85	78	81					1																	85487988		2203	4300	6503	SO:0001583	missense	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1191G>T	chr1.hg19:g.85487988C>A	ENSP00000359621:p.Lys397Asn		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	hg19	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319843	0.41096	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.69926	-0.44;-0.44	5.74	4.78	0.61160	Polycystin cation channel, PKD1/PKD2 (1);	0.088648	0.85682	D	0.000000	T	0.40645	0.1125	L	0.41710	1.295	0.48830	D	0.999718	B;B	0.27625	0.076;0.183	B;B	0.29077	0.043;0.098	T	0.42949	-0.9421	10	0.41790	T	0.15	-17.9811	9.0071	0.36117	0.0:0.7676:0.0:0.2324	.	341;397	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	N	397;397;341;341	ENSP00000359621:K397N;ENSP00000342698:K341N	ENSP00000304843:K397N	K	-	3	2	MCOLN3	85260576	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.405000	0.34635	1.307000	0.44944	0.655000	0.94253	AAG		0.433	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		A	85487988	C	A	85487988	3	1	292	1	0	0	0	0	1	0	0	0	9399	564	20	4	486	4	MCOLN3	1	85487988	Missense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08	50030026	85487988	163762633	5	17285											
CD46	4179	hgsc.bcm.edu	37	1	207940508	207940508	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr1:207940508C>A	ENST00000358170.2	+	6	980	c.824C>A	c.(823-825)aCt>aAt	p.T275N	CD46_ENST00000361067.1_Missense_Mutation_p.T275N|CD46_ENST00000354848.1_Missense_Mutation_p.T275N|CD46_ENST00000322875.4_Missense_Mutation_p.T275N|CD46_ENST00000322918.5_Missense_Mutation_p.T275N|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367042.1_Missense_Mutation_p.T275N|CD46_ENST00000441839.2_Missense_Mutation_p.T275N|CD46_ENST00000480003.1_Missense_Mutation_p.T275N|CD46_ENST00000367047.1_Missense_Mutation_p.T212N|CD46_ENST00000360212.2_Missense_Mutation_p.T275N|CD46_ENST00000367041.1_Missense_Mutation_p.T275N|CD46_ENST00000357714.1_Missense_Mutation_p.T275N	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	275	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						AGTAACAGTACTTGGGATCCC	0.358																																																0													110	105	107					1																	207940508		2203	4300	6503	SO:0001583	missense	4179			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.824C>A	chr1.hg19:g.207940508C>A	ENSP00000350893:p.Thr275Asn		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	hg19	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142222	0.57044	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.05	-4.14	0.03892	Complement control module (2);Sushi/SCR/CCP (3);	1.003600	0.08033	N	0.993895	T	0.68815	0.3042	M	0.69463	2.115	0.09310	N	1	P;B;D;P;B;D;B;D;P;P;P;D;D;D	0.63880	0.582;0.253;0.993;0.582;0.253;0.969;0.395;0.979;0.582;0.836;0.582;0.961;0.961;0.975	B;B;P;B;B;D;B;P;B;B;B;D;D;D	0.75020	0.2;0.141;0.869;0.2;0.141;0.974;0.227;0.831;0.2;0.32;0.2;0.961;0.961;0.985	T	0.60647	-0.7222	10	0.72032	D	0.01	.	1.9531	0.03370	0.4968:0.2102:0.1229:0.1701	.	275;275;275;275;275;275;275;275;275;275;275;275;275;275	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	N	275;275;275;275;275;275;275;212;275;275;275;275	ENSP00000350893:T275N;ENSP00000346912:T275N;ENSP00000314664:T275N;ENSP00000356009:T275N;ENSP00000356008:T275N;ENSP00000350346:T275N;ENSP00000313875:T275N;ENSP00000356014:T212N;ENSP00000413543:T275N;ENSP00000354358:T275N;ENSP00000353342:T275N;ENSP00000418471:T275N	ENSP00000313875:T275N	T	+	2	0	CD46	206007131	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.614000	0.05604	-0.469000	0.06911	0.655000	0.94253	ACT		0.358	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		A	207940508	C	A	207940508	3	1	292	1	0	0	0	0	1	0	0	0	3020	565	20	4	846	4	CD46	1	207940508	Missense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08	122452520	207940508	41310113	6	17286											
RBM34	23029	hgsc.bcm.edu	37	1	235318245	235318245	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr1:235318245T>A	ENST00000408888.3	-	4	778	c.548A>T	c.(547-549)aAt>aTt	p.N183I	RBM34_ENST00000366606.3_Missense_Mutation_p.N178I			P42696	RBM34_HUMAN	RNA binding motif protein 34	183						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			AGTTCTCTCATTCTTTAATCT	0.328																																																0													159	139	145					1																	235318245		1826	4086	5912	SO:0001583	missense	23029				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"RNA binding motif (RRM) containing"	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.548A>T	chr1.hg19:g.235318245T>A	ENSP00000386226:p.Asn183Ile		A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	hg19	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643590	0.67244	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.75154	-0.91;-0.91;0.96	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);	0.236119	0.48767	D	0.000162	D	0.85225	0.5648	M	0.76328	2.33	0.80722	D	1	D;B	0.89917	1.0;0.431	D;B	0.81914	0.995;0.186	D	0.85305	0.1075	10	0.45353	T	0.12	-17.2719	14.8054	0.69952	0.0:0.0:0.0:1.0	.	183;183	P42696-2;P42696	.;RBM34_HUMAN	I	183;178;181	ENSP00000386226:N183I;ENSP00000355565:N178I;ENSP00000400000:N181I	ENSP00000355565:N178I	N	-	2	0	RBM34	233384868	0.999000	0.42202	0.998000	0.56505	0.918000	0.54935	4.345000	0.59360	2.371000	0.80710	0.533000	0.62120	AAT		0.328	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		A	235318245	T	A	235318245	3	1	292	1	0	0	0	0	1	0	0	0	13137	1493	52	5	797	5	RBM34	1	235318245	Missense_Mutation	SNP	T	TCGA-B9-4113-01A-01D-1252-08	27377737	235318245	13932376	7	17287											
HADHA	3030	hgsc.bcm.edu	37	2	26459821	26459821	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr2:26459821G>C	ENST00000380649.3	-	4	345	c.216C>G	c.(214-216)ttC>ttG	p.F72L	HADHA_ENST00000461025.1_5'Flank|HADHA_ENST00000457468.2_Intron	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	72					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAACTTCTGAGAACTCTGAAT	0.403																																																0													102	99	100					2																	26459821		2203	4300	6503	SO:0001583	missense	3030			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.216C>G	chr2.hg19:g.26459821G>C	ENSP00000370023:p.Phe72Leu		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	hg19	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	G	5.697	0.313101	0.10789	.	.	ENSG00000084754	ENST00000380649	T	0.57907	0.37	5.78	1.36	0.22044	Crotonase, core (1);	0.277100	0.45126	N	0.000390	T	0.26011	0.0634	N	0.12831	0.26	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.07790	-1.0754	10	0.07990	T	0.79	-24.6945	7.1425	0.25564	0.2509:0.1413:0.6078:0.0	.	72	P40939	ECHA_HUMAN	L	72	ENSP00000370023:F72L	ENSP00000370023:F72L	F	-	3	2	HADHA	26313325	0.026000	0.19158	0.266000	0.24541	0.047000	0.14425	0.239000	0.18023	0.351000	0.24027	0.591000	0.81541	TTC		0.403	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		C	26459821	G	C	26459821	3	2	292	1	0	0	0	0	1	0	0	0	6945	933	33	4	2143	4	HADHA	2	26459821	Missense_Mutation	SNP	G	TCGA-B9-4113-01A-01D-1252-08		26459821	216739552	8	17288											
GTF3C2	2976	hgsc.bcm.edu	37	2	27565919	27565920	+	Frame_Shift_Ins	INS	-	-	TGGCCTTT			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr2:27565919_27565920insTGGCCTTT	ENST00000359541.2	-	3	771_772	c.342_343insAAAGGCCA	c.(340-345)ccccaafs	p.Q115fs	GTF3C2_ENST00000264720.3_Frame_Shift_Ins_p.Q115fs|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	115					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGGCTGTTGGGGCCTTTTGG	0.535																																																0																																										SO:0001589	frameshift_variant	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.342_343insAAAGGCCA	chr2.hg19:g.27565919_27565920insTGGCCTTT	ENSP00000352536:p.Gln115fs		D6W557|Q16632|Q9BWI7	Frame_Shift_Ins	INS	ENST00000359541.2	hg19	CCDS1749.1																																																																																				0.535	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			TGGCCTTT	27565920	-	TGGCCTTT	27565919	7	5	292	1	0	1	1	0	0	0	0	0	6875	1357	47	0	2460	0	GTF3C2	2	27565919	Frame_Shift_Ins	INS	-	TCGA-B9-4113-01A-01D-1252-08	1106098	27565919	215633454	9	17289	134	3									
GTF3C2	2976	hgsc.bcm.edu	37	2	27565920	27565920	+	Silent	SNP	G	G	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr2:27565920G>T	ENST00000359541.2	-	3	771	c.342C>A	c.(340-342)ccC>ccA	p.P114P	GTF3C2_ENST00000264720.3_Silent_p.P114P|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	114					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGCTGTTGGGGCCTTTTGG	0.537																																																0													94	89	91					2																	27565920		2203	4300	6503	SO:0001819	synonymous_variant	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.342C>A	chr2.hg19:g.27565920G>T			D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	hg19	CCDS1749.1																																																																																				0.537	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			T	27565920	G	T	27565920	2	4	292	1	0	0	0	0	0	0	0	1	6875	1219	43	4		4	GTF3C2	2	27565920	Silent	SNP	G	TCGA-B9-4113-01A-01D-1252-08	1	27565920	215633453	10	17290	134	3									
GTF3C2	2976	hgsc.bcm.edu	37	2	27565929	27565930	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr2:27565929_27565930delGG	ENST00000359541.2	-	3	761_762	c.332_333delCC	c.(331-333)cccfs	p.P111fs	GTF3C2_ENST00000264720.3_Frame_Shift_Del_p.P111fs|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	111					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGCCTTTTGGGGCCTTTTCG	0.525																																																0																																										SO:0001589	frameshift_variant	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.332_333delCC	chr2.hg19:g.27565931_27565932delGG	ENSP00000352536:p.Pro111fs		D6W557|Q16632|Q9BWI7	Frame_Shift_Del	DEL	ENST00000359541.2	hg19	CCDS1749.1																																																																																				0.525	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			-	27565930	GG	-	27565929	7	5	292	1	0	1	0	1	0	0	0	0	6875	1335	47	0	2470	0	GTF3C2	2	27565929	Frame_Shift_Del	DEL	GG	TCGA-B9-4113-01A-01D-1252-08	9	27565929	215633444	11	17291	134	3									
HAAO	23498	hgsc.bcm.edu	37	2	42994588	42994588	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr2:42994588G>C	ENST00000294973.6	-	10	905	c.850C>G	c.(850-852)Ccc>Gcc	p.P284A		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CACCCCAGGGGCTTCTTGCAG	0.617																																																0													38	38	38					2																	42994588		2203	4300	6503	SO:0001583	missense	23498			Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.850C>G	chr2.hg19:g.42994588G>C	ENSP00000294973:p.Pro284Ala			Missense_Mutation	SNP	ENST00000294973.6	hg19	CCDS33187.1	.	.	.	.	.	.	.	.	.	.	g	10.57	1.385999	0.25031	.	.	ENSG00000162882	ENST00000294973	T	0.30182	1.54	4.83	1.94	0.25998	.	0.156970	0.42682	N	0.000678	T	0.24275	0.0588	L	0.55743	1.74	0.45791	D	0.998671	B	0.06786	0.001	B	0.01281	0.0	T	0.06320	-1.0833	10	0.44086	T	0.13	.	5.3274	0.15915	0.1974:0.1834:0.6193:0.0	.	284	P46952	3HAO_HUMAN	A	284	ENSP00000294973:P284A	ENSP00000294973:P284A	P	-	1	0	HAAO	42848092	0.924000	0.31332	0.996000	0.52242	0.700000	0.40528	1.053000	0.30442	0.449000	0.26747	0.550000	0.68814	CCC		0.617	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2			C	42994588	G	C	42994588	3	2	292	1	0	0	0	0	1	0	0	0	6939	1203	42	4	14	4	HAAO	2	42994588	Missense_Mutation	SNP	G	TCGA-B9-4113-01A-01D-1252-08	15428659	42994588	200204785	12	17292											
BIN1	274	hgsc.bcm.edu	37	2	127818193	127818193	+	Intron	SNP	C	C	G	rs117721706	byFrequency	TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr2:127818193C>G	ENST00000316724.5	-	11	1269				BIN1_ENST00000466111.1_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000259238.4_Missense_Mutation_p.R263P|BIN1_ENST00000357970.3_Intron|BIN1_ENST00000352848.3_Missense_Mutation_p.R263P|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000376113.2_Missense_Mutation_p.R263P|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000409400.1_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCTGCGCAGCCGCGAAAACAG	0.632																																																0													120	112	114					2																	127818193		2203	4300	6503	SO:0001627	intron_variant	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.858-1462G>C	chr2.hg19:g.127818193C>G			O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	hg19	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387780	0.61956	.	.	ENSG00000136717	ENST00000376113;ENST00000259238;ENST00000352848	T;T;T	0.56611	0.45;0.47;0.53	4.72	4.72	0.59763	.	.	.	.	.	T	0.68559	0.3014	.	.	.	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.75484	0.986;0.986;0.986	T	0.66031	-0.6024	8	0.29301	T	0.29	.	14.976	0.71273	0.0:1.0:0.0:0.0	.	263;263;263	O00499-8;O00499-11;O00499-10	.;.;.	P	263	ENSP00000365281:R263P;ENSP00000259238:R263P;ENSP00000315284:R263P	ENSP00000259238:R263P	R	-	2	0	BIN1	127534663	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.415000	0.52700	2.337000	0.79520	0.561000	0.74099	CGG		0.632	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		G	127818193	C	G	127818193	1	3	292	0	1	0	0	0	0	0	0	0	1432	652	23	4		4	BIN1	2	127818193	Intron	SNP	C	TCGA-B9-4113-01A-01D-1252-08	84823605	127818193	115381180	13	17293											
XRCC5	7520	hgsc.bcm.edu	37	2	216981563	216981564	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr2:216981563_216981564insC	ENST00000392133.3	+	5	778_779	c.317_318insC	c.(316-321)gacttcfs	p.F107fs	XRCC5_ENST00000392132.2_Frame_Shift_Ins_p.F107fs			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	107					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CAACAGGCTGACTGTATCCTTT	0.421								Non-homologous end-joining																																								0																																										SO:0001589	frameshift_variant	7520			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.318dupC	chr2.hg19:g.216981564_216981564dupC	ENSP00000375978:p.Phe107fs		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Frame_Shift_Ins	INS	ENST00000392133.3	hg19	CCDS2402.1																																																																																				0.421	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		C	216981564	-	C	216981563	7	5	292	1	0	1	1	0	0	0	0	0	17461	275	10	0	327	0	XRCC5	2	216981563	Frame_Shift_Ins	INS	-	TCGA-B9-4113-01A-01D-1252-08	89163370	216981563	26217810	14	17294											
TRNT1	51095	hgsc.bcm.edu	37	3	3189651	3189651	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr3:3189651G>C	ENST00000251607.6	+	8	1220	c.1118G>C	c.(1117-1119)tGt>tCt	p.C373S	TRNT1_ENST00000280591.6_Missense_Mutation_p.C353S	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	373					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GGAGAGCACTGTCTCCTAAAG	0.438																																																0													118	110	113					3																	3189651		2203	4300	6503	SO:0001583	missense	51095			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.1118G>C	chr3.hg19:g.3189651G>C	ENSP00000251607:p.Cys373Ser		A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Missense_Mutation	SNP	ENST00000251607.6	hg19	CCDS2561.2	.	.	.	.	.	.	.	.	.	.	G	9.399	1.077394	0.20227	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	T;T	0.39229	1.09;1.11	5.24	2.0	0.26442	.	1.262890	0.05220	N	0.508422	T	0.22085	0.0532	N	0.08118	0	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19910	-1.0291	10	0.17832	T	0.49	-3.7877	5.7122	0.17941	0.1687:0.3466:0.4847:0.0	.	353;373	Q96Q11-2;Q96Q11	.;TRNT1_HUMAN	S	373;353	ENSP00000251607:C373S;ENSP00000280591:C353S	ENSP00000251607:C373S	C	+	2	0	TRNT1	3164651	0.026000	0.19158	0.010000	0.14722	0.971000	0.66376	2.269000	0.43346	1.168000	0.42723	0.655000	0.94253	TGT		0.438	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			C	3189651	G	C	3189651	3	2	292	1	0	0	0	0	1	0	0	0	16578	1377	48	4	1144	4	TRNT1	3	3189651	Missense_Mutation	SNP	G	TCGA-B9-4113-01A-01D-1252-08		3189651	194832779	15	17295											
OSBPL10	114884	hgsc.bcm.edu	37	3	31774841	31774841	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr3:31774841G>A	ENST00000396556.2	-	6	1125	c.1003C>T	c.(1003-1005)Ctt>Ttt	p.L335F	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.L271F	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	335					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAAGAGCCAAGTGTCCCATTT	0.473																																																0													166	156	159					3																	31774841		2203	4300	6503	SO:0001583	missense	114884			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1003C>T	chr3.hg19:g.31774841G>A	ENSP00000379804:p.Leu335Phe		B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	hg19	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285363	0.40394	.	.	ENSG00000144645	ENST00000396556;ENST00000438237;ENST00000428241	T;T;T	0.52983	1.87;2.22;0.64	5.66	2.21	0.28008	.	0.326770	0.33075	N	0.005319	T	0.41328	0.1154	M	0.68952	2.095	0.45076	D	0.998091	B;B;B	0.19445	0.036;0.005;0.001	B;B;B	0.15870	0.014;0.005;0.005	T	0.30621	-0.9972	10	0.52906	T	0.07	-1.9596	6.3688	0.21469	0.2078:0.138:0.6542:0.0	.	271;335;103	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	F	335;271;143	ENSP00000379804:L335F;ENSP00000406124:L271F;ENSP00000399200:L143F	ENSP00000379804:L335F	L	-	1	0	OSBPL10	31749845	0.602000	0.26916	0.675000	0.29917	0.982000	0.71751	0.776000	0.26704	0.470000	0.27294	0.555000	0.69702	CTT		0.473	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			A	31774841	G	A	31774841	3	1	292	1	0	0	0	0	1	0	0	0	11277	1029	36	2	1319	2	OSBPL10	3	31774841	Missense_Mutation	SNP	G	TCGA-B9-4113-01A-01D-1252-08	28585190	31774841	166247589	16	17296											
ATR	545	hgsc.bcm.edu	37	3	142274792	142274792	+	Silent	SNP	A	A	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr3:142274792A>T	ENST00000350721.4	-	10	2389	c.2268T>A	c.(2266-2268)tcT>tcA	p.S756S	ATR_ENST00000383101.3_Silent_p.S692S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	756					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTTTTAGTTGAGAAGATGAAC	0.368								Other conserved DNA damage response genes																																								0													118	119	119					3																	142274792		2203	4300	6503	SO:0001819	synonymous_variant	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2268T>A	chr3.hg19:g.142274792A>T			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	hg19	CCDS3124.1																																																																																				0.368	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142274792	A	T	142274792	2	4	292	1	0	0	0	0	0	0	0	1	1204	291	11	5		5	ATR	3	142274792	Silent	SNP	A	TCGA-B9-4113-01A-01D-1252-08	110499951	142274792	55747638	17	17297											
SLC26A1	10861	hgsc.bcm.edu	37	4	985220	985220	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr4:985220G>A	ENST00000361661.2	-	3	649	c.272C>T	c.(271-273)tCa>tTa	p.S91L	SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Missense_Mutation_p.S91L|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.S91L|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	91					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCCAGCAATGAGTAGGCGAT	0.632																																																0													105	99	101					4																	985220		2203	4300	6503	SO:0001583	missense	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.272C>T	chr4.hg19:g.985220G>A	ENSP00000354721:p.Ser91Leu		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	hg19	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559905	0.65538	.	.	ENSG00000145217	ENST00000398520;ENST00000361661;ENST00000398516	D;D;D	0.92495	-3.05;-3.05;-3.05	5.18	5.18	0.71444	.	0.226096	0.46758	D	0.000276	D	0.96993	0.9018	M	0.93763	3.455	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.72338	0.977;0.969	D	0.98001	1.0360	10	0.87932	D	0	.	16.1549	0.81657	0.0:0.0:1.0:0.0	.	91;91	Q9H2B4;Q96BK0	S26A1_HUMAN;.	L	91	ENSP00000381532:S91L;ENSP00000354721:S91L;ENSP00000381528:S91L	ENSP00000354721:S91L	S	-	2	0	SLC26A1	975220	0.998000	0.40836	0.985000	0.45067	0.336000	0.28762	2.673000	0.46858	2.402000	0.81655	0.313000	0.20887	TCA		0.632	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		A	985220	G	A	985220	3	1	292	1	0	0	0	0	1	0	0	0	14520	1294	45	2	1944	2	SLC26A1	4	985220	Missense_Mutation	SNP	G	TCGA-B9-4113-01A-01D-1252-08		985220	190169056	18	17298											
ACOX3	8310	hgsc.bcm.edu	37	4	8417674	8417674	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr4:8417674C>T	ENST00000356406.5	-	3	274	c.197G>A	c.(196-198)gGa>gAa	p.G66E	ACOX3_ENST00000413009.2_Missense_Mutation_p.G66E|ACOX3_ENST00000503233.1_Missense_Mutation_p.G66E	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	66					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CAGATCGGCTCCAGGGGAACG	0.483																																																0													71	67	68					4																	8417674		2203	4300	6503	SO:0001583	missense	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.197G>A	chr4.hg19:g.8417674C>T	ENSP00000348775:p.Gly66Glu		Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	hg19	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	9.453	1.091143	0.20471	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.41758	0.99;0.99;0.99	5.39	-0.535	0.11879	Acyl-CoA dehydrogenase/oxidase (1);	0.611319	0.16430	N	0.214753	T	0.21509	0.0518	L	0.31664	0.95	0.38700	D	0.952962	B;B	0.16166	0.016;0.01	B;B	0.17433	0.018;0.005	T	0.33007	-0.9885	10	0.02654	T	1	-6.3195	6.2369	0.20768	0.0:0.5193:0.1203:0.3604	.	66;66	O15254-2;O15254	.;ACOX3_HUMAN	E	66	ENSP00000413994:G66E;ENSP00000348775:G66E;ENSP00000421625:G66E	ENSP00000348775:G66E	G	-	2	0	ACOX3	8468574	0.730000	0.28100	0.000000	0.03702	0.001000	0.01503	1.878000	0.39608	-0.212000	0.10109	-0.145000	0.13849	GGA		0.483	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			T	8417674	C	T	8417674	3	4	292	1	0	0	0	0	1	0	0	0	160	855	30	2	1969	2	ACOX3	4	8417674	Missense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08	7432454	8417674	182736602	19	17299											
AASDH	132949	hgsc.bcm.edu	37	4	57248668	57248668	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr4:57248668A>T	ENST00000205214.6	-	3	506	c.326T>A	c.(325-327)aTc>aAc	p.I109N	AASDH_ENST00000451613.1_Missense_Mutation_p.I109N|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.I9N|AASDH_ENST00000502617.1_Missense_Mutation_p.I109N|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000602986.1_Intron	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	109					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTCAACAAGGATATACTTTAG	0.323																																																0													47	48	48					4																	57248668		2203	4300	6503	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.326T>A	chr4.hg19:g.57248668A>T	ENSP00000205214:p.Ile109Asn		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	hg19	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611899	0.87258	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000502617	T;T;T;T	0.66638	0.83;-0.22;0.83;0.83	5.88	5.88	0.94601	AMP-dependent synthetase/ligase (1);	0.289492	0.43919	D	0.000514	T	0.81093	0.4751	M	0.78049	2.395	0.25673	N	0.985874	D;D;D;D	0.65815	0.989;0.991;0.995;0.991	P;D;P;P	0.63957	0.87;0.92;0.902;0.873	T	0.76408	-0.2970	10	0.87932	D	0	-4.2072	15.9439	0.79779	1.0:0.0:0.0:0.0	.	109;109;109;109	Q4L235-4;B4E2K0;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	N	109;9;109;109	ENSP00000205214:I109N;ENSP00000423760:I9N;ENSP00000409656:I109N;ENSP00000421171:I109N	ENSP00000205214:I109N	I	-	2	0	AASDH	56943425	1.000000	0.71417	0.864000	0.33941	0.979000	0.70002	6.594000	0.74104	2.250000	0.74265	0.533000	0.62120	ATC		0.323	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		T	57248668	A	T	57248668	3	4	292	1	0	0	0	0	1	0	0	0	22	333	12	5	3022	5	AASDH	4	57248668	Missense_Mutation	SNP	A	TCGA-B9-4113-01A-01D-1252-08	48830994	57248668	133905608	20	17300											
ABCG2	9429	hgsc.bcm.edu	37	4	89039327	89039327	+	Silent	SNP	A	A	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr4:89039327A>G	ENST00000237612.3	-	7	1320	c.775T>C	c.(775-777)Ttg>Ctg	p.L259L	ABCG2_ENST00000515655.1_Silent_p.L259L	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	259	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CCTGAGGCCAATAAGGTGAGG	0.433																																																0													127	115	119					4																	89039327		2203	4300	6503	SO:0001819	synonymous_variant	9429			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.775T>C	chr4.hg19:g.89039327A>G			A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	hg19	CCDS3628.1																																																																																				0.433	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		G	89039327	A	G	89039327	2	3	292	1	0	0	0	0	0	0	0	1	69	98	4	3		3	ABCG2	4	89039327	Silent	SNP	A	TCGA-B9-4113-01A-01D-1252-08	31790659	89039327	102114949	21	17301											
NDST4	64579	hgsc.bcm.edu	37	4	115767018	115767018	+	Silent	SNP	G	G	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr4:115767018G>A	ENST00000264363.2	-	10	2754	c.2076C>T	c.(2074-2076)atC>atT	p.I692I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	692	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGTCAATGAGGATGGTGATGA	0.433																																																0													135	126	129					4																	115767018		2203	4300	6503	SO:0001819	synonymous_variant	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2076C>T	chr4.hg19:g.115767018G>A			Q2KHM8	Silent	SNP	ENST00000264363.2	hg19	CCDS3706.1																																																																																				0.433	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		A	115767018	G	A	115767018	2	1	292	1	0	0	0	0	0	0	0	1	10260	1164	41	2		2	NDST4	4	115767018	Silent	SNP	G	TCGA-B9-4113-01A-01D-1252-08	26727691	115767018	75387258	22	17302											
ASB5	140458	hgsc.bcm.edu	37	4	177136796	177136796	+	Silent	SNP	T	T	C			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr4:177136796T>C	ENST00000296525.3	-	7	1058	c.945A>G	c.(943-945)caA>caG	p.Q315Q	ASB5_ENST00000512254.1_Silent_p.Q262Q	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	315	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GCAGCTGGAGTTGTGGGATAA	0.368																																																0													119	109	113					4																	177136796		2203	4300	6503	SO:0001819	synonymous_variant	140458			AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"Ankyrin repeat domain containing"	17180	protein-coding gene	gene with protein product		615050	"ankyrin repeat and SOCS box-containing 5"				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.945A>G	chr4.hg19:g.177136796T>C			Q8N7B5	Silent	SNP	ENST00000296525.3	hg19	CCDS3827.1																																																																																				0.368	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			C	177136796	T	C	177136796	2	2	292	1	0	0	0	0	0	0	0	1	1026	1722	60	3		3	ASB5	4	177136796	Silent	SNP	T	TCGA-B9-4113-01A-01D-1252-08	61369778	177136796	14017480	23	17303											
FAM149A	25854	hgsc.bcm.edu	37	4	187077186	187077186	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr4:187077186A>G	ENST00000356371.5	+	7	1289	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	FAM149A_ENST00000503432.1_Missense_Mutation_p.Q139R|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000502970.1_Missense_Mutation_p.Q139R|FAM149A_ENST00000227065.4_Missense_Mutation_p.Q139R|FAM149A_ENST00000514153.1_Missense_Mutation_p.Q139R|FAM149A_ENST00000389354.5_Missense_Mutation_p.Q139R			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	430										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AAACCAGCTCAGCCCGGTAGG	0.433																																																0													103	96	98					4																	187077186		2203	4300	6503	SO:0001583	missense	25854			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1289A>G	chr4.hg19:g.187077186A>G	ENSP00000348732:p.Gln430Arg		B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	hg19		.	.	.	.	.	.	.	.	.	.	A	8.579	0.881917	0.17467	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.11169	2.81;2.8;2.81;2.81;2.81;2.81	5.46	-10.9	0.00192	.	1.583490	0.03252	N	0.182041	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.34004	-0.9846	10	0.12766	T	0.61	0.1667	2.1131	0.03708	0.3:0.2092:0.3344:0.1565	.	430;430;139	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	R	139;430;139;139;139;139	ENSP00000426835:Q139R;ENSP00000348732:Q430R;ENSP00000227065:Q139R;ENSP00000427155:Q139R;ENSP00000424380:Q139R;ENSP00000374005:Q139R	ENSP00000227065:Q139R	Q	+	2	0	FAM149A	187314180	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.206000	0.03011	-1.534000	0.01743	-0.343000	0.07986	CAG		0.433	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		G	187077186	A	G	187077186	3	3	292	1	0	0	0	0	1	0	0	0	5457	188	7	3	430	3	FAM149A	4	187077186	Missense_Mutation	SNP	A	TCGA-B9-4113-01A-01D-1252-08	9940390	187077186	4077090	24	17304											
LIFR	3977	hgsc.bcm.edu	37	5	38504185	38504185	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr5:38504185T>C	ENST00000263409.4	-	10	1492	c.1330A>G	c.(1330-1332)Att>Gtt	p.I444V	LIFR_ENST00000453190.2_Missense_Mutation_p.I444V|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	444	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GTTGAATTAATATCCTTCACT	0.269			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													54	59	58					5																	38504185		2201	4295	6496	SO:0001583	missense	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1330A>G	chr5.hg19:g.38504185T>C	ENSP00000263409:p.Ile444Val		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	hg19	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	T	3.712	-0.059335	0.07317	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.56103	0.48;0.48	5.65	-2.44	0.06502	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.807977	0.11218	N	0.587055	T	0.34164	0.0888	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30534	-0.9975	10	0.11794	T	0.64	-5.8891	11.1796	0.48620	0.0:0.4564:0.0:0.5436	.	444	P42702	LIFR_HUMAN	V	444	ENSP00000263409:I444V;ENSP00000398368:I444V	ENSP00000263409:I444V	I	-	1	0	LIFR	38539942	0.638000	0.27225	0.525000	0.27900	0.996000	0.88848	0.083000	0.14871	-0.426000	0.07360	0.528000	0.53228	ATT		0.269	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		C	38504185	T	C	38504185	3	2	292	1	0	0	0	0	1	0	0	0	8782	1406	49	3	2007	3	LIFR	5	38504185	Missense_Mutation	SNP	T	TCGA-B9-4113-01A-01D-1252-08		38504185	142411075	25	17305											
PCDHGA4	56111	hgsc.bcm.edu	37	5	140735217	140735218	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr5:140735217_140735218insG	ENST00000571252.1	+	1	450_451	c.450_451insG	c.(451-453)agafs	p.R151fs	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	151	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)			ATCCTGGGGCAAGATTTCCTCT	0.45																																																0																																										SO:0001589	frameshift_variant	56111			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		Exception_encountered	chr5.hg19:g.140735217_140735218insG	ENSP00000458570:p.Arg151fs		Q9Y5D3	Frame_Shift_Ins	INS	ENST00000571252.1	hg19	CCDS58979.1																																																																																				0.45	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		G	140735218	-	G	140735217	7	5	292	1	0	1	1	0	0	0	0	0	11558	117	5	0	452	0	PCDHGA4	5	140735217	Frame_Shift_Ins	INS	-	TCGA-B9-4113-01A-01D-1252-08	102231032	140735217	40180043	26	17306											
SLC36A3	285641	hgsc.bcm.edu	37	5	150660717	150660717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr5:150660717G>T	ENST00000335230.3	-	9	1413	c.1002C>A	c.(1000-1002)taC>taA	p.Y334*	SLC36A3_ENST00000377713.3_Nonsense_Mutation_p.Y375*	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	334						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCGATAGAGTACATCAGCT	0.522																																																0													222	171	188					5																	150660717		2203	4300	6503	SO:0001587	stop_gained	285641			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1002C>A	chr5.hg19:g.150660717G>T	ENSP00000334750:p.Tyr334*		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Nonsense_Mutation	SNP	ENST00000335230.3	hg19	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	39	7.569738	0.98365	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	.	.	.	4.06	1.12	0.20585	.	0.196500	0.45361	D	0.000367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.071	7.6369	0.28272	0.4739:0.0:0.5261:0.0	.	.	.	.	X	334;375	.	ENSP00000334750:Y334X	Y	-	3	2	SLC36A3	150640910	1.000000	0.71417	0.967000	0.41034	0.964000	0.63967	1.720000	0.38022	0.092000	0.17331	0.561000	0.74099	TAC		0.522	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		T	150660717	G	T	150660717	4	4	292	1	0	0	0	0	0	1	0	0	14601	1024	36	4	418	4	SLC36A3	5	150660717	Nonsense_Mutation	SNP	G	TCGA-B9-4113-01A-01D-1252-08	9925500	150660717	30254543	27	17307											
RGS14	10636	hgsc.bcm.edu	37	5	176797996	176797996	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr5:176797996G>T	ENST00000408923.3	+	11	1406	c.1218G>T	c.(1216-1218)aaG>aaT	p.K406N		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	406	Necessary for interaction with RABGEF1. {ECO:0000250}.|RBD 2. {ECO:0000255|PROSITE- ProRule:PRU00262}.				cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGGAGAAGCACGGCTTGA	0.751																																					NSCLC(47;353 1896 28036)											0													10	12	11					5																	176797996		1750	3841	5591	SO:0001583	missense	10636			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1218G>T	chr5.hg19:g.176797996G>T	ENSP00000386229:p.Lys406Asn		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	hg19	CCDS43405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.43|13.43	2.234827|2.234827	0.39498|0.39498	.|.	.|.	ENSG00000169220|ENSG00000169220	ENST00000408923;ENST00000336477|ENST00000511890	T|.	0.63417|.	-0.04|.	4.96|4.96	2.0|2.0	0.26442|0.26442	Raf-like Ras-binding (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61060|0.61060	0.2317|0.2317	M|M	0.71206|0.71206	2.165|2.165	0.42256|0.42256	D|D	0.991993|0.991993	D;D;D|.	0.89917|.	1.0;1.0;0.995|.	D;D;D|.	0.97110|.	1.0;0.999;0.951|.	T|T	0.57940|0.57940	-0.7724|-0.7724	10|5	0.87932|.	D|.	0|.	-28.6256|-28.6256	5.8726|5.8726	0.18812|0.18812	0.3015:0.0:0.5635:0.135|0.3015:0.0:0.5635:0.135	.|.	177;254;406|.	B3KUX0;O43566-5;O43566|.	.;.;RGS14_HUMAN|.	N|I	406;187|277	ENSP00000386229:K406N|.	ENSP00000336864:K187N|.	K|S	+|+	3|2	2|0	RGS14|RGS14	176730602|176730602	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.033000|0.033000	0.12548|0.12548	1.059000|1.059000	0.30517|0.30517	0.704000|0.704000	0.31869|0.31869	-0.225000|-0.225000	0.12378|0.12378	AAG|AGC		0.751	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		T	176797996	G	T	176797996	3	4	292	1	0	0	0	0	1	0	0	0	13303	962	34	4	1260	4	RGS14	5	176797996	Missense_Mutation	SNP	G	TCGA-B9-4113-01A-01D-1252-08	26137279	176797996	4117264	28	17308											
OR11A1	26531	hgsc.bcm.edu	37	6	29395381	29395381	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr6:29395381T>G	ENST00000377149.1	-	5	510	c.38A>C	c.(37-39)gAa>gCa	p.E13A	OR11A1_ENST00000377148.1_Missense_Mutation_p.E13A|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.E13A			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GAGGACAAATTCAGTAATAGT	0.398																																																0													67	65	66					6																	29395381		1509	2709	4218	SO:0001583	missense	26531				CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.38A>C	chr6.hg19:g.29395381T>G	ENSP00000366354:p.Glu13Ala		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	hg19	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118839	0.56505	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.01119	5.31;5.31;5.31	3.66	2.48	0.30137	.	0.000000	0.33290	U	0.005076	T	0.00998	0.0033	M	0.88512	2.96	0.09310	N	1	P	0.34977	0.478	B	0.38327	0.271	T	0.41928	-0.9481	10	0.54805	T	0.06	-0.4728	5.5487	0.17079	0.0:0.2499:0.0:0.7501	.	13	Q9GZK7	O11A1_HUMAN	A	13	ENSP00000366353:E13A;ENSP00000366354:E13A;ENSP00000366352:E13A	ENSP00000366352:E13A	E	-	2	0	OR11A1	29503360	0.004000	0.15560	0.093000	0.20910	0.716000	0.41182	0.571000	0.23669	0.465000	0.27167	0.327000	0.21459	GAA		0.398	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			G	29395381	T	G	29395381	3	3	292	1	0	0	0	0	1	0	0	0	10926	1783	62	5	913	5	OR11A1	6	29395381	Missense_Mutation	SNP	T	TCGA-B9-4113-01A-01D-1252-08		29395381	141719686	29	17309											
HECA	51696	hgsc.bcm.edu	37	6	139495590	139495590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr6:139495590delA	ENST00000367658.2	+	3	1666	c.1381delA	c.(1381-1383)aagfs	p.K461fs	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	461					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CATCTGCATCAAGTGTAAGTC	0.547																																																0													234	198	210					6																	139495590		2203	4300	6503	SO:0001589	frameshift_variant	51696			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1381delA	chr6.hg19:g.139495590delA	ENSP00000356630:p.Lys461fs			Frame_Shift_Del	DEL	ENST00000367658.2	hg19	CCDS5194.1																																																																																				0.547	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		-	139495590	A	-	139495590	7	5	292	1	0	1	0	1	0	0	0	0	7040	131	5	0	1391	0	HECA	6	139495590	Frame_Shift_Del	DEL	A	TCGA-B9-4113-01A-01D-1252-08	110100209	139495590	31619477	30	17310											
SEPT7	989	hgsc.bcm.edu	37	7	35912377	35912377	+	Splice_Site	SNP	G	G	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr7:35912377G>A	ENST00000435235.1	+	4	650		c.e4+1		SEPT7_ENST00000475109.1_Splice_Site|SEPT7_ENST00000399035.3_Splice_Site|SEPT7_ENST00000494488.2_Splice_Site|SEPT7_ENST00000469679.2_Splice_Site|SEPT7_ENST00000350320.6_Splice_Site|SEPT7_ENST00000399034.2_Splice_Site			Q16181	SEPT7_HUMAN	septin 7						cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						ATAGTAATTGGTAAGAAGGGT	0.388																																																0													134	127	129					7																	35912377		1851	4091	5942	SO:0001630	splice_region_variant	989			S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"Septins"	1717	protein-coding gene	gene with protein product		603151	"CDC10 cell division cycle 10 homolog (S. cerevisiae)"	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.218+1G>A	chr7.hg19:g.35912377G>A			Q52M76|Q6NX50	Splice_Site	SNP	ENST00000435235.1	hg19		.	.	.	.	.	.	.	.	.	.	g	24.0	4.477060	0.84640	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000469679;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0851	0.89455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEPT7	35878902	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.695000	0.98691	2.338000	0.79540	0.574000	0.79327	.		0.388	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788	Intron	A	35912377	G	A	35912377	5	1	292	1	0	0	0	0	0	0	1	0	14075	1275	44	2	390	2	SEPT7	7	35912377	Splice_Site	SNP	G	TCGA-B9-4113-01A-01D-1252-08		35912377	123226286	31	17311											
PRKRIP1	79706	hgsc.bcm.edu	37	7	102040095	102040096	+	Splice_Site	DNP	GG	GG	AA			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr7:102040095_102040096GG>AA	ENST00000496391.1	+	7	1616	c.306_306GG>AA	c.(304-306)aaGG>aaAAg	p.K102K	PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000354783.4_Splice_Site_p.K64K|PRKRIP1_ENST00000462601.1_Splice_Site_p.K45K|PRKRIP1_ENST00000397912.3_Splice_Site_p.K102K			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	102	Required for RNA-binding. {ECO:0000250}.				negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						TGGCTGAGAAGGTCAGTGAGCC	0.554																																																0																																										SO:0001630	splice_region_variant	79706			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"Zinc fingers, C2H2-type", "-"	21894	protein-coding gene	gene with protein product	"likely ortholog of mouse C114 dsRNA-binding protein", "KRAB box domain containing 3"					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	Exception_encountered	chr7.hg19:g.102040095_102040096delinsAA			B4DGM2|Q8NDM6|Q96CF8	Silent|Splice_Site	SNP	ENST00000496391.1	hg19	CCDS34714.1																																																																																				0.554	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349489.1	NM_024653	Silent	AA	102040096	GG	AA	102040095	5	1	292	1	0	0	0	0	0	0	1	0	12530	1014	35	2	316	2	PRKRIP1	7	102040095	Splice_Site	DNP	GG	TCGA-B9-4113-01A-01D-1252-08	66127718	102040095	57098568	32	17312											
ZNF777	27153	hgsc.bcm.edu	37	7	149129443	149129443	+	Silent	SNP	C	C	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr7:149129443C>T	ENST00000247930.4	-	6	2243	c.1920G>A	c.(1918-1920)gaG>gaA	p.E640E		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTGTCGCACTCGGGGCACT	0.652																																																0													90	106	100					7																	149129443		2182	4272	6454	SO:0001819	synonymous_variant	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1920G>A	chr7.hg19:g.149129443C>T			Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	hg19	CCDS43675.1																																																																																				0.652	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		T	149129443	C	T	149129443	2	4	292	1	0	0	0	0	0	0	0	1	18155	564	20	2		2	ZNF777	7	149129443	Silent	SNP	C	TCGA-B9-4113-01A-01D-1252-08	47089348	149129443	10009220	33	17313											
ZFHX4	79776	hgsc.bcm.edu	37	8	77776650	77776650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr8:77776650C>A	ENST00000521891.2	+	11	11148	c.10700C>A	c.(10699-10701)tCa>tAa	p.S3567*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.S3518*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.S3541*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.S3522*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTTCAAACCTCACTACCCACA	0.493										HNSCC(33;0.089)																																						0													85	86	86					8																	77776650		2128	4274	6402	SO:0001587	stop_gained	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10700C>A	chr8.hg19:g.77776650C>A	ENSP00000430497:p.Ser3567*		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	52	19.301884	0.99917	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.36	4.36	0.52297	.	0.000000	0.36628	U	0.002492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.448	0.87584	0.0:1.0:0.0:0.0	.	.	.	.	X	3567;3551;3522;3518;3541	.	ENSP00000050961:S3518X	S	+	2	0	ZFHX4	77939205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.563000	0.82314	2.435000	0.82474	0.650000	0.86243	TCA		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		A	77776650	C	A	77776650	4	1	292	1	0	0	0	0	0	1	0	0	17640	838	29	4	10738	4	ZFHX4	8	77776650	Nonsense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08		77776650	68587372	34	17314											
COL5A1	1289	hgsc.bcm.edu	37	9	137593045	137593045	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr9:137593045delA	ENST00000371817.3	+	4	934	c.520delA	c.(520-522)aagfs	p.K175fs	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	175	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGCGTCCACAAGAAAAATGT	0.478																																																0													132	100	111					9																	137593045		2203	4298	6501	SO:0001589	frameshift_variant	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.520delA	chr9.hg19:g.137593045delA	ENSP00000360882:p.Lys175fs		Q15094|Q5SUX4	Frame_Shift_Del	DEL	ENST00000371817.3	hg19	CCDS6982.1																																																																																				0.478	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		-	137593045	A	-	137593045	7	5	292	1	0	1	0	1	0	0	0	0	3698	131	5	0	534	0	COL5A1	9	137593045	Frame_Shift_Del	DEL	A	TCGA-B9-4113-01A-01D-1252-08		137593045	3620386	35	17315											
ECD	11319	hgsc.bcm.edu	37	10	74896486	74896486	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr10:74896486T>G	ENST00000372979.4	-	13	1886	c.1680A>C	c.(1678-1680)aaA>aaC	p.K560N	ECD_ENST00000454759.2_Missense_Mutation_p.K517N|ECD_ENST00000430082.2_Missense_Mutation_p.K593N	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	560					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TGGTGAAACTTTTGCTGATGC	0.418																																																0													221	194	203					10																	74896486		2203	4300	6503	SO:0001583	missense	11319			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1680A>C	chr10.hg19:g.74896486T>G	ENSP00000362070:p.Lys560Asn		C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	hg19	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034517	0.75617	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	T;T;T	0.19669	2.13;2.13;2.13	5.66	3.37	0.38596	.	0.091325	0.85682	D	0.000000	T	0.34048	0.0884	M	0.64997	1.995	0.47037	D	0.999297	D;D;P	0.60575	0.978;0.988;0.51	P;P;P	0.60286	0.872;0.872;0.493	T	0.03597	-1.1021	10	0.40728	T	0.16	-2.9522	7.962	0.30076	0.0:0.1669:0.0:0.8331	.	517;593;560	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	N	560;593;517	ENSP00000362070:K560N;ENSP00000401566:K593N;ENSP00000395786:K517N	ENSP00000362070:K560N	K	-	3	2	ECD	74566492	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.537000	0.36083	0.981000	0.38548	0.533000	0.62120	AAA		0.418	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		G	74896486	T	G	74896486	3	3	292	1	0	0	0	0	1	0	0	0	4890	1838	64	5	262	5	ECD	10	74896486	Missense_Mutation	SNP	T	TCGA-B9-4113-01A-01D-1252-08		74896486	60638261	36	17316											
COX15	1355	hgsc.bcm.edu	37	10	101491791	101491791	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr10:101491791A>C	ENST00000016171.5	-	1	66	c.16T>G	c.(16-18)Ttt>Gtt	p.F6V	CUTC_ENST00000493385.1_Intron|CUTC_ENST00000370476.5_5'Flank|COX15_ENST00000370483.5_Missense_Mutation_p.F6V			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	6					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AACGGCGGAAAGAGCAATCGC	0.607																																																0													48	36	40					10																	101491791		2203	4300	6503	SO:0001583	missense	1355			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.16T>G	chr10.hg19:g.101491791A>C	ENSP00000016171:p.Phe6Val		A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	hg19	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	A	6.792	0.515219	0.12944	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	.	.	.	4.58	0.265	0.15612	.	0.865040	0.09787	N	0.755882	T	0.23054	0.0557	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21621	-1.0240	9	0.27785	T	0.31	1.4857	3.7279	0.08481	0.4456:0.2267:0.3277:0.0	.	6;6	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	V	6	.	ENSP00000016171:F6V	F	-	1	0	COX15	101481781	0.005000	0.15991	0.002000	0.10522	0.186000	0.23388	-0.083000	0.11286	-0.100000	0.12241	0.454000	0.30748	TTT		0.607	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		C	101491791	A	C	101491791	3	2	292	1	0	0	0	0	1	0	0	0	3766	72	3	5	1322	5	COX15	10	101491791	Missense_Mutation	SNP	A	TCGA-B9-4113-01A-01D-1252-08	26595305	101491791	34042956	37	17317											
E2F8	79733	hgsc.bcm.edu	37	11	19251275	19251275	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr11:19251275A>T	ENST00000527884.1	-	10	1851	c.1619T>A	c.(1618-1620)cTg>cAg	p.L540Q	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.L540Q	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	540					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGTTGGGCTCAGGCCTTGGGG	0.582																																																0													116	110	112					11																	19251275		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1619T>A	chr11.hg19:g.19251275A>T	ENSP00000434199:p.Leu540Gln		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	hg19	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208327	0.39003	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.19669	2.13;2.13	5.63	3.22	0.36961	.	0.443233	0.22737	N	0.056245	T	0.17323	0.0416	M	0.62723	1.935	0.38602	D	0.950684	P	0.37955	0.612	B	0.34722	0.188	T	0.13737	-1.0498	10	0.66056	D	0.02	-1.4647	1.4873	0.02450	0.4262:0.2981:0.1324:0.1433	.	540	A0AVK6	E2F8_HUMAN	Q	540	ENSP00000434199:L540Q;ENSP00000250024:L540Q	ENSP00000250024:L540Q	L	-	2	0	E2F8	19207851	0.981000	0.34729	1.000000	0.80357	0.949000	0.60115	1.281000	0.33214	0.376000	0.24707	0.533000	0.62120	CTG		0.582	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		T	19251275	A	T	19251275	3	4	292	1	0	0	0	0	1	0	0	0	4875	188	7	5	1000	5	E2F8	11	19251275	Missense_Mutation	SNP	A	TCGA-B9-4113-01A-01D-1252-08		19251275	115755241	38	17318											
QSER1	79832	hgsc.bcm.edu	37	11	32954930	32954930	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr11:32954930C>A	ENST00000399302.2	+	4	2074	c.1739C>A	c.(1738-1740)tCa>tAa	p.S580*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.S341*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	580										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTCTTGAGTCATCAACCCAA	0.398																																																0													82	77	79					11																	32954930		1869	4115	5984	SO:0001587	stop_gained	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1739C>A	chr11.hg19:g.32954930C>A	ENSP00000382241:p.Ser580*		Q6ZU30|Q6ZUR5	Nonsense_Mutation	SNP	ENST00000399302.2	hg19	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281137	0.80692	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	.	.	.	5.01	5.01	0.66863	.	0.480260	0.19152	N	0.121422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6645	0.91485	0.0:1.0:0.0:0.0	.	.	.	.	X	580;341;341	.	ENSP00000078652:S341X	S	+	2	0	QSER1	32911506	0.999000	0.42202	0.049000	0.19019	0.007000	0.05969	5.597000	0.67577	2.496000	0.84212	0.591000	0.81541	TCA		0.398	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		A	32954930	C	A	32954930	4	1	292	1	0	0	0	0	0	1	0	0	12888	838	29	4	1745	4	QSER1	11	32954930	Nonsense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08	13703655	32954930	102051586	39	17319											
MADD	8567	hgsc.bcm.edu	37	11	47304129	47304129	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr11:47304129T>G	ENST00000311027.5	+	9	1832	c.1667T>G	c.(1666-1668)cTt>cGt	p.L556R	MADD_ENST00000407859.3_Missense_Mutation_p.L556R|MADD_ENST00000402192.2_Missense_Mutation_p.L556R|MADD_ENST00000395336.3_Missense_Mutation_p.L556R|MADD_ENST00000402799.1_Missense_Mutation_p.L556R|MADD_ENST00000406482.1_Missense_Mutation_p.L556R|MADD_ENST00000342922.4_Missense_Mutation_p.L556R|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000349238.3_Missense_Mutation_p.L556R|MADD_ENST00000395344.3_Missense_Mutation_p.L556R	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GAATGGATCCTTAACCCCACC	0.537																																																0													69	53	58					11																	47304129		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1667T>G	chr11.hg19:g.47304129T>G	ENSP00000310933:p.Leu556Arg			Missense_Mutation	SNP	ENST00000311027.5	hg19	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.010292	0.93346	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.08896	3.16;3.05;3.05;3.14;3.15;3.04;3.06;3.15;3.16	5.77	5.77	0.91146	dDENN (1);	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.995;0.997;0.998;0.991;0.991;0.991;0.997;0.999;0.999;0.999	T	0.00686	-1.1610	10	0.87932	D	0	-13.2301	16.383	0.83481	0.0:0.0:0.0:1.0	.	556;556;556;556;556;556;556;556;556;556	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	R	556	ENSP00000343902:L556R;ENSP00000385585:L556R;ENSP00000384435:L556R;ENSP00000304505:L556R;ENSP00000310933:L556R;ENSP00000384204:L556R;ENSP00000378753:L556R;ENSP00000378745:L556R;ENSP00000384287:L556R	ENSP00000310933:L556R	L	+	2	0	MADD	47260705	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.628000	0.83189	2.326000	0.78906	0.533000	0.62120	CTT		0.537	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			G	47304129	T	G	47304129	3	3	292	1	0	0	0	0	1	0	0	0	9154	1609	56	5	1697	5	MADD	11	47304129	Missense_Mutation	SNP	T	TCGA-B9-4113-01A-01D-1252-08	14349199	47304129	87702387	40	17320											
A2ML1	144568	hgsc.bcm.edu	37	12	9006738	9006738	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr12:9006738delA	ENST00000299698.7	+	21	2785	c.2605delA	c.(2605-2607)actfs	p.T869fs	A2ML1_ENST00000539547.1_Frame_Shift_Del_p.T378fs	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATTAACTTTACTATTAGTAC	0.468																																																0													55	56	56					12																	9006738		1864	4095	5959	SO:0001589	frameshift_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2605delA	chr12.hg19:g.9006738delA	ENSP00000299698:p.Thr869fs			Frame_Shift_Del	DEL	ENST00000299698.7	hg19	CCDS8596.2																																																																																				0.468	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		-	9006738	A	-	9006738	7	5	292	1	0	1	0	1	0	0	0	0	5	391	14	0	2687	0	A2ML1	12	9006738	Frame_Shift_Del	DEL	A	TCGA-B9-4113-01A-01D-1252-08		9006738	124845157	41	17321											
PIK3C2G	5288	hgsc.bcm.edu	37	12	18658292	18658292	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr12:18658292G>A	ENST00000266497.5	+	22	3135	c.3097G>A	c.(3097-3099)Gac>Aac	p.D1033N	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.D1033N|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.D1074N			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1033	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGGAGTATGTGACCGTCACAA	0.393																																																0													129	112	117					12																	18658292		1934	4151	6085	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3097G>A	chr12.hg19:g.18658292G>A	ENSP00000266497:p.Asp1033Asn		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	hg19	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018323	0.93404	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.94897	-3.55;-3.55;-3.55	4.47	4.47	0.54385	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.127925	0.51477	D	0.000089	D	0.98105	0.9375	H	0.95043	3.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98863	1.0763	10	0.87932	D	0	-20.5375	17.403	0.87465	0.0:0.0:1.0:0.0	.	1073;1074;1033	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	N	1033;1033;1074	ENSP00000404845:D1033N;ENSP00000266497:D1033N;ENSP00000445381:D1074N	ENSP00000266497:D1033N	D	+	1	0	PIK3C2G	18549559	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.524000	0.98036	2.771000	0.95319	0.650000	0.86243	GAC		0.393	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		A	18658292	G	A	18658292	3	1	292	1	0	0	0	0	1	0	0	0	11913	1290	45	2	3183	2	PIK3C2G	12	18658292	Missense_Mutation	SNP	G	TCGA-B9-4113-01A-01D-1252-08	9651554	18658292	115193603	42	17322											
PDZRN4	29951	hgsc.bcm.edu	37	12	41585335	41585335	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr12:41585335C>T	ENST00000402685.2	+	2	732	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	242	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TATAGGAGGTCGACCAAATCA	0.303																																																0													97	90	92					12																	41585335		1568	3576	5144	SO:0001587	stop_gained	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.724C>T	chr12.hg19:g.41585335C>T	ENSP00000384197:p.Arg242*		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Nonsense_Mutation	SNP	ENST00000402685.2	hg19	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	37	6.538183	0.97646	.	.	ENSG00000165966	ENST00000402685	.	.	.	4.48	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2118	0.37322	0.0:0.8273:0.0:0.1727	.	.	.	.	X	242	.	ENSP00000384197:R242X	R	+	1	2	PDZRN4	39871602	0.791000	0.28800	0.992000	0.48379	0.995000	0.86356	1.196000	0.32198	0.591000	0.29711	0.563000	0.77884	CGA		0.303	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		T	41585335	C	T	41585335	4	4	292	1	0	0	0	0	0	1	0	0	11712	876	31	1	730	1	PDZRN4	12	41585335	Nonsense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08	22927043	41585335	92266560	43	17323											
ACAD10	80724	hgsc.bcm.edu	37	12	112184083	112184083	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr12:112184083C>A	ENST00000313698.4	+	14	2406	c.2251C>A	c.(2251-2253)Ccc>Acc	p.P751T	ACAD10_ENST00000392636.2_Missense_Mutation_p.P353T|ACAD10_ENST00000455480.2_Missense_Mutation_p.P782T|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	751						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTGTATGCCCCCGAGGTACC	0.473																																																0													106	103	104					12																	112184083		2203	4300	6503	SO:0001583	missense	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2251C>A	chr12.hg19:g.112184083C>A	ENSP00000325137:p.Pro751Thr		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	hg19	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.408994	0.62399	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000455480;ENST00000515283;ENST00000313698	D;D;D	0.99660	-6.32;-6.32;-6.32	5.29	3.43	0.39272	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.378699	0.25436	N	0.030684	D	0.99629	0.9864	H	0.97732	4.065	0.80722	D	1	D;B;B	0.53462	0.96;0.209;0.298	P;B;B	0.57057	0.812;0.396;0.141	D	0.98657	1.0682	10	0.87932	D	0	.	9.228	0.37418	0.1463:0.776:0.0:0.0777	.	782;751;751	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	T	353;751;782;144;751	ENSP00000376411:P353T;ENSP00000389813:P782T;ENSP00000325137:P751T	ENSP00000325137:P751T	P	+	1	0	ACAD10	110668466	0.071000	0.21146	0.012000	0.15200	0.965000	0.64279	1.166000	0.31834	0.708000	0.31955	0.561000	0.74099	CCC		0.473	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		A	112184083	C	A	112184083	3	1	292	1	0	0	0	0	1	0	0	0	108	623	22	4	2398	4	ACAD10	12	112184083	Missense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08	70598748	112184083	21667812	44	17324											
TMEM132D	121256	hgsc.bcm.edu	37	12	130184819	130184819	+	Silent	SNP	C	C	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr12:130184819C>G	ENST00000422113.2	-	2	830	c.504G>C	c.(502-504)ctG>ctC	p.L168L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	168					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAAAGACCCTCAGGCACGGCA	0.662																																																0													18	20	20					12																	130184819		2203	4299	6502	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.504G>C	chr12.hg19:g.130184819C>G			Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	hg19	CCDS9266.1																																																																																				0.662	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		G	130184819	C	G	130184819	2	3	292	1	0	0	0	0	0	0	0	1	16052	813	29	4		4	TMEM132D	12	130184819	Silent	SNP	C	TCGA-B9-4113-01A-01D-1252-08	18000736	130184819	3667076	45	17325											
SLC46A3	283537	hgsc.bcm.edu	37	13	29287510	29287510	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr13:29287510A>G	ENST00000266943.6	-	3	736	c.367T>C	c.(367-369)Tat>Cat	p.Y123H	SLC46A3_ENST00000380814.4_Missense_Mutation_p.Y123H	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	123					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAGGCAAAATAGCAAAGCAAA	0.408																																																0													74	67	69					13																	29287510		2203	4300	6503	SO:0001583	missense	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.367T>C	chr13.hg19:g.29287510A>G	ENSP00000266943:p.Tyr123His		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	hg19	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182467	0.78677	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.80994	-1.44;-1.44	6.17	5.0	0.66597	Major facilitator superfamily domain, general substrate transporter (1);	0.059964	0.64402	D	0.000002	D	0.88123	0.6352	M	0.74881	2.28	0.42496	D	0.992918	D;B;B	0.89917	1.0;0.36;0.413	D;B;B	0.79784	0.993;0.139;0.219	D	0.87590	0.2490	10	0.42905	T	0.14	-22.8055	12.1889	0.54257	0.9341:0.0:0.0659:0.0	.	48;123;123	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	H	123	ENSP00000266943:Y123H;ENSP00000370192:Y123H	ENSP00000266943:Y123H	Y	-	1	0	SLC46A3	28185510	1.000000	0.71417	0.981000	0.43875	0.958000	0.62258	6.725000	0.74752	1.160000	0.42584	0.533000	0.62120	TAT		0.408	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		G	29287510	A	G	29287510	3	3	292	1	0	0	0	0	1	0	0	0	14652	420	15	3	1048	3	SLC46A3	13	29287510	Missense_Mutation	SNP	A	TCGA-B9-4113-01A-01D-1252-08		29287510	85882368	46	17326											
ATP7B	540	hgsc.bcm.edu	37	13	52548108	52548108	+	Silent	SNP	A	A	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr13:52548108A>T	ENST00000242839.4	-	2	1404	c.1248T>A	c.(1246-1248)gcT>gcA	p.A416A	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Silent_p.A384A|ATP7B_ENST00000448424.2_Silent_p.A416A|ATP7B_ENST00000344297.5_Silent_p.A416A|ATP7B_ENST00000400370.3_Silent_p.A416A|ATP7B_ENST00000400366.3_Silent_p.A305A|ATP7B_ENST00000418097.2_Silent_p.A416A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	416	HMA 4. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGTCTTCTATAGCAGCTCTGA	0.458									Wilson disease																																							0													100	98	98					13																	52548108		1934	4142	6076	SO:0001819	synonymous_variant	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1248T>A	chr13.hg19:g.52548108A>T			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	hg19	CCDS41892.1																																																																																				0.458	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		T	52548108	A	T	52548108	2	4	292	1	0	0	0	0	0	0	0	1	1191	407	15	5		5	ATP7B	13	52548108	Silent	SNP	A	TCGA-B9-4113-01A-01D-1252-08	23260598	52548108	62621770	47	17327											
RNF219	79596	hgsc.bcm.edu	37	13	79190506	79190506	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr13:79190506T>A	ENST00000282003.6	-	6	1448	c.1390A>T	c.(1390-1392)Aca>Tca	p.T464S	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	464	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CAAAATCCTGTCTTTGGGGAA	0.333																																																0													38	40	39					13																	79190506		2203	4298	6501	SO:0001583	missense	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1390A>T	chr13.hg19:g.79190506T>A	ENSP00000282003:p.Thr464Ser		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	hg19	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813748	0.32053	.	.	ENSG00000152193	ENST00000282003	T	0.13778	2.56	5.86	3.32	0.38043	.	0.182284	0.39475	N	0.001352	T	0.03959	0.0111	N	0.03608	-0.345	0.26073	N	0.9812	B	0.10296	0.003	B	0.08055	0.003	T	0.36841	-0.9731	10	0.10902	T	0.67	-12.2367	1.5693	0.02612	0.3186:0.0903:0.1164:0.4747	.	464	Q5W0B1	RN219_HUMAN	S	464	ENSP00000282003:T464S	ENSP00000282003:T464S	T	-	1	0	RNF219	78088507	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.424000	0.34848	1.050000	0.40346	0.533000	0.62120	ACA		0.333	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		A	79190506	T	A	79190506	3	1	292	1	0	0	0	0	1	0	0	0	13488	1667	58	5	794	5	RNF219	13	79190506	Missense_Mutation	SNP	T	TCGA-B9-4113-01A-01D-1252-08	26642398	79190506	35979372	48	17328											
SDR39U1	23351	hgsc.bcm.edu	37	14	24910963	24910963	+	IGR	SNP	C	C	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr14:24910963C>G	ENST00000251343.5	+	0	6225				SDR39U1_ENST00000399390.1_5'Flank|SDR39U1_ENST00000555365.1_5'UTR|SDR39U1_ENST00000554698.1_Intron|SDR39U1_ENST00000538105.2_Intron|SDR39U1_ENST00000399395.3_Missense_Mutation_p.R82P|SDR39U1_ENST00000555561.1_5'Flank|SDR39U1_ENST00000553930.1_5'UTR			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGTCTCTAGGCGGCTGCCGAT	0.498																																																0													48	39	42					14																	24910963		1856	4091	5947	SO:0001628	intergenic_variant	56948			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037			chr14.hg19:g.24910963C>G			Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	hg19	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024548	0.93518	.	.	ENSG00000100445	ENST00000399395;ENST00000336353	D	0.93426	-3.22	5.46	5.46	0.80206	NAD(P)-binding domain (1);	0.222455	0.46145	D	0.000301	D	0.96972	0.9011	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97373	0.9977	10	0.87932	D	0	-11.9991	17.1594	0.86800	0.0:1.0:0.0:0.0	.	82;108	Q9NRG7-2;Q9NRG7	.;D39U1_HUMAN	P	82;108	ENSP00000382327:R82P	ENSP00000336854:R108P	R	-	2	0	SDR39U1	23980803	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.215000	0.77966	2.714000	0.92807	0.655000	0.94253	CGC		0.498	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			G	24910963	C	G	24910963	1	3	292	0	1	0	0	0	0	0	0	0	13978	768	27	4		4	SDR39U1	14	24910963	IGR	SNP	C	TCGA-B9-4113-01A-01D-1252-08		24910963	82438577	49	17329											
SPINT1	6692	hgsc.bcm.edu	37	15	41146021	41146021	+	Silent	SNP	C	C	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr15:41146021C>T	ENST00000344051.4	+	5	1089	c.855C>T	c.(853-855)ggC>ggT	p.G285G	SPINT1_ENST00000562057.1_Silent_p.G285G|SPINT1_ENST00000431806.1_Silent_p.G285G			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	285	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCTGCTTGGGCAACAAGAACA	0.572																																																0													120	128	125					15																	41146021		2203	4300	6503	SO:0001819	synonymous_variant	6692				CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.855C>T	chr15.hg19:g.41146021C>T			Q7Z7D2	Silent	SNP	ENST00000344051.4	hg19	CCDS10067.1																																																																																				0.572	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		T	41146021	C	T	41146021	2	4	292	1	0	0	0	0	0	0	0	1	15073	697	25	2		2	SPINT1	15	41146021	Silent	SNP	C	TCGA-B9-4113-01A-01D-1252-08		41146021	61385371	50	17330											
TP53BP1	7158	hgsc.bcm.edu	37	15	43724401	43724401	+	Silent	SNP	G	G	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr15:43724401G>A	ENST00000263801.3	-	17	3903	c.3651C>T	c.(3649-3651)ctC>ctT	p.L1217L	TP53BP1_ENST00000450115.2_Silent_p.L1222L|TP53BP1_ENST00000382039.3_Silent_p.L1222L|TP53BP1_ENST00000382044.4_Silent_p.L1222L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1217					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTGGCTATGGAGCGACTCTG	0.483								Other conserved DNA damage response genes																																								0													137	112	121					15																	43724401		2201	4298	6499	SO:0001819	synonymous_variant	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3651C>T	chr15.hg19:g.43724401G>A			F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	hg19	CCDS10096.1																																																																																				0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			A	43724401	G	A	43724401	2	1	292	1	0	0	0	0	0	0	0	1	16388	1161	41	2		2	TP53BP1	15	43724401	Silent	SNP	G	TCGA-B9-4113-01A-01D-1252-08	2578380	43724401	58806991	51	17331											
CGNL1	84952	hgsc.bcm.edu	37	15	57730838	57730838	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr15:57730838C>G	ENST00000281282.5	+	2	719	c.641C>G	c.(640-642)aCa>aGa	p.T214R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	214	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCTGGTGTGACAGCTATTCGT	0.517																																																0													132	132	132					15																	57730838		2192	4292	6484	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.641C>G	chr15.hg19:g.57730838C>G	ENSP00000281282:p.Thr214Arg		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	hg19	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	5.347	0.249277	0.10130	.	.	ENSG00000128849	ENST00000281282	T	0.76968	-1.06	4.98	4.04	0.47022	.	0.178508	0.26851	N	0.022178	T	0.70124	0.3188	L	0.51422	1.61	0.30026	N	0.813928	B	0.27625	0.183	B	0.19666	0.026	T	0.69495	-0.5130	10	0.56958	D	0.05	-12.3608	10.9213	0.47167	0.4244:0.5756:0.0:0.0	.	214	Q0VF96	CGNL1_HUMAN	R	214	ENSP00000281282:T214R	ENSP00000281282:T214R	T	+	2	0	CGNL1	55518130	0.432000	0.25554	0.389000	0.26208	0.182000	0.23217	1.535000	0.36061	1.275000	0.44379	0.650000	0.86243	ACA		0.517	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		G	57730838	C	G	57730838	3	3	292	1	0	0	0	0	1	0	0	0	3306	478	17	4	643	4	CGNL1	15	57730838	Missense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08	14006437	57730838	44800554	52	17332											
MCTP2	55784	hgsc.bcm.edu	37	15	94841734	94841734	+	Silent	SNP	C	C	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr15:94841734C>T	ENST00000357742.4	+	1	240	c.240C>T	c.(238-240)agC>agT	p.S80S	MCTP2_ENST00000543482.1_Silent_p.S80S|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Silent_p.S80S	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	80					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CGGTGCCCAGCAGTCTGTCCA	0.587																																																0													60	62	62					15																	94841734		2197	4298	6495	SO:0001819	synonymous_variant	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.240C>T	chr15.hg19:g.94841734C>T			A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	hg19	CCDS32338.1																																																																																				0.587	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		T	94841734	C	T	94841734	2	4	292	1	0	0	0	0	0	0	0	1	9403	709	25	2		2	MCTP2	15	94841734	Silent	SNP	C	TCGA-B9-4113-01A-01D-1252-08	37110896	94841734	7689658	53	17333											
ATAD5	79915	hgsc.bcm.edu	37	17	29220728	29220728	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr17:29220728T>G	ENST00000321990.4	+	21	5235	c.4857T>G	c.(4855-4857)aaT>aaG	p.N1619K		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1619					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGGAAACAATCCAGAGACAA	0.393																																																0													82	91	88					17																	29220728		2203	4300	6503	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4857T>G	chr17.hg19:g.29220728T>G	ENSP00000313171:p.Asn1619Lys		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	hg19	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.522716	0.00149	.	.	ENSG00000176208	ENST00000321990	T	0.06218	3.33	4.7	-1.39	0.08997	.	7.549810	0.00481	N	0.000125	T	0.04998	0.0134	L	0.39898	1.24	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.32025	-0.9922	10	0.07325	T	0.83	.	2.0379	0.03544	0.2113:0.3553:0.099:0.3344	.	1619	Q96QE3	ATAD5_HUMAN	K	1619	ENSP00000313171:N1619K	ENSP00000313171:N1619K	N	+	3	2	ATAD5	26244854	0.000000	0.05858	0.027000	0.17364	0.126000	0.20510	-1.140000	0.03210	-0.300000	0.08895	-0.326000	0.08463	AAT		0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		G	29220728	T	G	29220728	3	3	292	1	0	0	0	0	1	0	0	0	1076	1432	50	5	4939	5	ATAD5	17	29220728	Missense_Mutation	SNP	T	TCGA-B9-4113-01A-01D-1252-08		29220728	51974482	54	17334											
TANC2	26115	hgsc.bcm.edu	37	17	61466867	61466867	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr17:61466867C>A	ENST00000424789.2	+	15	2795	c.2791C>A	c.(2791-2793)Ctg>Atg	p.L931M	RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.L931M	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	931					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGCAGGGTACCTGAGCATTGT	0.537																																																0													31	31	31					17																	61466867		2010	4178	6188	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2791C>A	chr17.hg19:g.61466867C>A	ENSP00000387593:p.Leu931Met		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	hg19	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	8.463	0.855695	0.17106	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68765	-0.35;-0.35	5.17	5.17	0.71159	Ankyrin repeat-containing domain (4);	0.063998	0.64402	D	0.000005	T	0.62998	0.2474	L	0.50333	1.59	0.51767	D	0.999933	B;B;B	0.28128	0.082;0.118;0.201	B;B;B	0.31390	0.036;0.091;0.129	T	0.58989	-0.7538	10	0.14656	T	0.56	.	18.698	0.91610	0.0:1.0:0.0:0.0	.	931;841;931	Q9HCD6-2;D3DU10;Q9HCD6	.;.;TANC2_HUMAN	M	931	ENSP00000374171:L931M;ENSP00000387593:L931M	ENSP00000374171:L931M	L	+	1	2	TANC2	58820599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.060000	0.57477	2.401000	0.81631	0.555000	0.69702	CTG		0.537	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			A	61466867	C	A	61466867	3	1	292	1	0	0	0	0	1	0	0	0	15550	680	24	4	2849	4	TANC2	17	61466867	Missense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08	32246139	61466867	19728343	55	17335											
PTPRM	5797	hgsc.bcm.edu	37	18	7567846	7567846	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr18:7567846delT	ENST00000332175.8	+	1	1067	c.30delT	c.(28-30)actfs	p.T10fs	PTPRM_ENST00000580170.1_Frame_Shift_Del_p.T10fs|PTPRM_ENST00000400060.4_Frame_Shift_Del_p.T10fs	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	10					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCCTGGCGACTTTGGCCGGAC	0.766																																																0													56	56	56					18																	7567846		2203	4300	6503	SO:0001589	frameshift_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.30delT	chr18.hg19:g.7567846delT	ENSP00000331418:p.Thr10fs		A7MBN1|D3DUH8|J3QL11	Frame_Shift_Del	DEL	ENST00000332175.8	hg19	CCDS11840.1																																																																																				0.766	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			-	7567846	T	-	7567846	7	5	292	1	0	1	0	1	0	0	0	0	12812	1596	56	0	32	0	PTPRM	18	7567846	Frame_Shift_Del	DEL	T	TCGA-B9-4113-01A-01D-1252-08		7567846	70509402	56	17336											
SALL3	27164	hgsc.bcm.edu	37	18	76754972	76754972	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr18:76754972T>C	ENST00000537592.2	+	2	2981	c.2981T>C	c.(2980-2982)aTc>aCc	p.I994T	SALL3_ENST00000536229.3_Intron|SALL3_ENST00000575389.2_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	994					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCGTTGGAAATCCACTACCGC	0.562																																																0													61	61	61					18																	76754972		2203	4300	6503	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2981T>C	chr18.hg19:g.76754972T>C	ENSP00000441823:p.Ile994Thr		Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	hg19	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890593	0.33348	.	.	ENSG00000256463	ENST00000537592	T	0.07114	3.22	5.15	5.15	0.70609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000142	T	0.10809	0.0264	N	0.12637	0.245	0.80722	D	1	P	0.50819	0.939	P	0.53988	0.739	T	0.22695	-1.0209	10	0.56958	D	0.05	-22.1664	14.9958	0.71431	0.0:0.0:0.0:1.0	.	994	Q9BXA9	SALL3_HUMAN	T	994	ENSP00000441823:I994T	ENSP00000299466:I994T	I	+	2	0	SALL3	74855960	1.000000	0.71417	0.961000	0.40146	0.689000	0.40095	4.390000	0.59646	1.943000	0.56356	0.379000	0.24179	ATC		0.562	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		C	76754972	T	C	76754972	3	2	292	1	0	0	0	0	1	0	0	0	13818	1435	50	3	2987	3	SALL3	18	76754972	Missense_Mutation	SNP	T	TCGA-B9-4113-01A-01D-1252-08	69187126	76754972	1322276	57	17337											
DOT1L	84444	hgsc.bcm.edu	37	19	2191111	2191111	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr19:2191111C>G	ENST00000398665.3	+	5	401	c.365C>G	c.(364-366)cCc>cGc	p.P122R		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	122	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGACCGACCCCGAGAAGCTC	0.602																																																0													70	80	77					19																	2191111		2112	4210	6322	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.365C>G	chr19.hg19:g.2191111C>G	ENSP00000381657:p.Pro122Arg		O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	hg19	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003702	0.93287	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	T;T	0.23754	1.89;1.89	4.75	4.75	0.60458	.	0.053872	0.85682	D	0.000000	T	0.58552	0.2130	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68800	-0.5313	10	0.87932	D	0	-14.6108	16.8009	0.85614	0.0:1.0:0.0:0.0	.	122	Q8TEK3-2	.	R	122;122;98	ENSP00000381657:P122R;ENSP00000404284:P98R	ENSP00000221482:P122R	P	+	2	0	DOT1L	2142111	1.000000	0.71417	0.943000	0.38184	0.962000	0.63368	7.246000	0.78247	2.193000	0.70182	0.555000	0.69702	CCC		0.602	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		G	2191111	C	G	2191111	3	3	292	1	0	0	0	0	1	0	0	0	4711	623	22	4	383	4	DOT1L	19	2191111	Missense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08		2191111	56937872	58	17338											
CASP14	23581	hgsc.bcm.edu	37	19	15164633	15164633	+	Silent	SNP	C	C	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr19:15164633C>T	ENST00000427043.3	+	4	575	c.267C>T	c.(265-267)caC>caT	p.H89H	CASP14_ENST00000221740.1_Silent_p.H89H|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	89					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TCATGGCTCACGGGAGGGAAG	0.552																																																0													95	83	87					19																	15164633		2203	4300	6503	SO:0001819	synonymous_variant	23581				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.267C>T	chr19.hg19:g.15164633C>T			O95823|Q3SYC9	Silent	SNP	ENST00000427043.3	hg19	CCDS12323.1																																																																																				0.552	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		T	15164633	C	T	15164633	2	4	292	1	0	0	0	0	0	0	0	1	2672	535	19	1		1	CASP14	19	15164633	Silent	SNP	C	TCGA-B9-4113-01A-01D-1252-08	12973522	15164633	43964350	59	17339											
NWD1	284434	hgsc.bcm.edu	37	19	16918705	16918705	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr19:16918705G>A	ENST00000552788.1	+	16	4045	c.4045G>A	c.(4045-4047)Gag>Aag	p.E1349K	NWD1_ENST00000549814.1_Missense_Mutation_p.E1307K|NWD1_ENST00000523826.1_Missense_Mutation_p.E1143K|NWD1_ENST00000379808.3_Missense_Mutation_p.E1349K|NWD1_ENST00000524140.2_Missense_Mutation_p.E1349K|NWD1_ENST00000339803.6_Missense_Mutation_p.E1214K			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1349							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAGCTGCCCGAGACCCTCTC	0.567																																																0													152	131	138					19																	16918705		2203	4300	6503	SO:0001583	missense	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4045G>A	chr19.hg19:g.16918705G>A	ENSP00000447224:p.Glu1349Lys		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.61	1.989439	0.35131	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57907	0.45;0.44;0.45;0.37;0.43;0.44	4.95	3.91	0.45181	WD40 repeat-like-containing domain (1);	0.427481	0.20913	N	0.083440	T	0.24509	0.0594	L	0.27053	0.805	0.09310	N	1	P;B;B	0.45078	0.85;0.145;0.089	B;B;B	0.25140	0.058;0.039;0.017	T	0.14952	-1.0454	10	0.09843	T	0.71	-19.7004	6.6582	0.22998	0.1992:0.0:0.8008:0.0	.	1349;1349;1214	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	K	1214;1349;1307;1349;1143;1349;1214	ENSP00000428579:E1349K;ENSP00000447548:E1307K;ENSP00000369136:E1349K;ENSP00000428955:E1143K;ENSP00000447224:E1349K;ENSP00000340159:E1214K	ENSP00000340159:E1214K	E	+	1	0	NWD1	16779705	0.274000	0.24191	0.991000	0.47740	0.505000	0.33919	1.839000	0.39220	2.282000	0.76494	0.655000	0.94253	GAG		0.567	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		A	16918705	G	A	16918705	3	1	292	1	0	0	0	0	1	0	0	0	10783	1059	37	1	3694	1	NWD1	19	16918705	Missense_Mutation	SNP	G	TCGA-B9-4113-01A-01D-1252-08	1754072	16918705	42210278	60	17340											
ZNF285	26974	hgsc.bcm.edu	37	19	44896570	44896570	+	Missense_Mutation	SNP	C	C	G	rs144077949	byFrequency	TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr19:44896570C>G	ENST00000330997.4	-	3	140	c.76G>C	c.(76-78)Gat>Cat	p.D26H	ZNF285_ENST00000591679.1_Missense_Mutation_p.D33H|CTC-512J12.4_ENST00000588655.1_RNA|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.D26H	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGGGCTTTATCCAATAGTGCC	0.453																																																0													149	132	138					19																	44896570		2203	4300	6503	SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.76G>C	chr19.hg19:g.44896570C>G	ENSP00000333595:p.Asp26His		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	hg19	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405340	0.62288	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T;T	0.06142	3.34;4.17	3.07	1.89	0.25635	Krueppel-associated box (4);	.	.	.	.	T	0.23054	0.0557	M	0.88310	2.945	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.09640	-1.0665	9	0.87932	D	0	.	3.2985	0.06974	0.2577:0.5999:0.0:0.1424	.	50;26	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	H	49;26	ENSP00000439431:D49H;ENSP00000333595:D26H	ENSP00000333595:D26H	D	-	1	0	ZNF285	49588410	0.829000	0.29322	0.154000	0.22540	0.897000	0.52465	1.205000	0.32308	1.738000	0.51689	0.449000	0.29647	GAT		0.453	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		G	44896570	C	G	44896570	3	3	292	1	0	0	0	0	1	0	0	0	17827	855	30	4	1704	4	ZNF285	19	44896570	Missense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08	27977865	44896570	14232413	61	17341											
ZNF665	79788	hgsc.bcm.edu	37	19	53669370	53669370	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr19:53669370C>G	ENST00000600412.1	-	2	293	c.178G>C	c.(178-180)Gct>Cct	p.A60P	ZNF665_ENST00000396424.3_Missense_Mutation_p.A125P|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	60					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCACGTTGAGCTCTTCTACCA	0.388																																																0													118	124	122					19																	53669370		2073	4226	6299	SO:0001583	missense	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.178G>C	chr19.hg19:g.53669370C>G	ENSP00000469154:p.Ala60Pro		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	hg19		.	.	.	.	.	.	.	.	.	.	C	7.108	0.575466	0.13623	.	.	ENSG00000197497	ENST00000396424	T	0.08370	3.1	2.4	-0.298	0.12814	.	.	.	.	.	T	0.04588	0.0125	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44267	-0.9339	9	0.24483	T	0.36	.	6.4255	0.21768	0.1793:0.4658:0.3549:0.0	.	125	Q9H7R5-2	.	P	125	ENSP00000379702:A125P	ENSP00000379702:A125P	A	-	1	0	ZNF665	58361182	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	0.042000	0.13949	0.315000	0.23110	0.543000	0.68304	GCT		0.388	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		G	53669370	C	G	53669370	3	3	292	1	0	0	0	0	1	0	0	0	18078	797	28	4	1667	4	ZNF665	19	53669370	Missense_Mutation	SNP	C	TCGA-B9-4113-01A-01D-1252-08	8772800	53669370	5459613	62	17342											
PRIC285	85441	hgsc.bcm.edu	37	20	62193087	62193087	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr20:62193087T>C	ENST00000467148.1	-	12	6772	c.6703A>G	c.(6703-6705)Aga>Gga	p.R2235G	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1666G	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2235	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCCATCCTTCTCAGGAGCAGT	0.667																																																0													28	28	28					20																	62193087		2195	4295	6490	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6703A>G	chr20.hg19:g.62193087T>C	ENSP00000417401:p.Arg2235Gly		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	hg19	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	T	8.870	0.949007	0.18356	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.81821	-1.54;-1.54	2.96	1.78	0.24846	ATPase, AAA+ type, core (1);	1.202560	0.05584	N	0.573417	T	0.76772	0.4034	L	0.41124	1.26	0.29383	N	0.863141	B;B	0.29270	0.24;0.122	B;B	0.39027	0.288;0.19	T	0.68161	-0.5482	10	0.66056	D	0.02	-9.3242	4.3793	0.11286	0.0:0.1118:0.2045:0.6837	.	2235;1666	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	G	1666;2235	ENSP00000393257:R1666G;ENSP00000417401:R2235G	ENSP00000393257:R1666G	R	-	1	2	RP4-697K14.7	61663531	0.466000	0.25823	0.958000	0.39756	0.288000	0.27193	0.564000	0.23563	0.497000	0.27926	0.402000	0.26972	AGA		0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		C	62193087	T	C	62193087	3	2	292	1	0	0	0	0	1	0	0	0	12490	1559	54	3	1278	3	PRIC285	20	62193087	Missense_Mutation	SNP	T	TCGA-B9-4113-01A-01D-1252-08		62193087	832433	63	17343											
LSS	4047	hgsc.bcm.edu	37	21	47626684	47626684	+	Splice_Site	SNP	T	T	G			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr21:47626684T>G	ENST00000397728.3	-	16	1546		c.e16-2		LSS_ENST00000522411.1_Splice_Site|LSS_ENST00000356396.4_Splice_Site|LSS_ENST00000457828.2_Splice_Site	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)						cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GTTCAGCAGCTGAAATCACAG	0.582																																					Pancreas(114;955 2313 34923 50507)											0													71	60	64					21																	47626684		2203	4300	6503	SO:0001630	splice_region_variant	4047			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1468-2A>C	chr21.hg19:g.47626684T>G			B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Splice_Site	SNP	ENST00000397728.3	hg19	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674567	0.47781	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4665	0.75406	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LSS	46451112	1.000000	0.71417	0.974000	0.42286	0.221000	0.24807	7.752000	0.85141	2.206000	0.71126	0.533000	0.62120	.		0.582	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2		Intron	G	47626684	T	G	47626684	5	3	292	1	0	0	0	0	0	0	1	0	9067	1594	55	5	760	5	LSS	21	47626684	Splice_Site	SNP	T	TCGA-B9-4113-01A-01D-1252-08		47626684	503211	64	17344											
TOP3B	8940	hgsc.bcm.edu	37	22	22319734	22319735	+	In_Frame_Ins	INS	-	-	TTG			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr22:22319734_22319735insTTG	ENST00000398793.2	-	9	1299_1300	c.865_866insCAA	c.(865-867)agc>aCAAgc	p.288_289insT	TOP3B_ENST00000413067.2_In_Frame_Ins_p.17_18insT|TOP3B_ENST00000357179.5_In_Frame_Ins_p.288_289insT	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	288					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTCTTTCCTGCTTGTGGCCTCC	0.535																																																0																																										SO:0001652	inframe_insertion	8940			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.863_865dupCAA	chr22.hg19:g.22319735_22319737dupTTG	ENSP00000381773:p.Thr288_Thr288dup		A0M8Q3|Q9BUP5	In_Frame_Ins	INS	ENST00000398793.2	hg19	CCDS13797.1																																																																																				0.535	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		TTG	22319735	-	TTG	22319734	7	5	292	1	0	1	1	0	0	0	0	0	16373	797	28	0	1762	0	TOP3B	22	22319734	In_Frame_Ins	INS	-	TCGA-B9-4113-01A-01D-1252-08		22319734	28984832	65	17345											
CYP2D6	1565	hgsc.bcm.edu	37	22	42523507	42523516	+	Frame_Shift_Del	DEL	AGGGGGACGA	AGGGGGACGA	-	rs149686350|rs61745683	byFrequency	TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	AGGGGGACGA	AGGGGGACGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chr22:42523507_42523516delAGGGGGACGA	ENST00000360608.5	-	7	1220_1229	c.1106_1115delTCGTCCCCCT	c.(1105-1116)atcgtccccctgfs	p.IVPL369fs	CYP2D6_ENST00000389970.3_Frame_Shift_Del_p.IVPL369fs|CYP2D6_ENST00000359033.4_Frame_Shift_Del_p.IVPL318fs|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	369			I -> T (in allele CYP2D6*26).		alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.I318I(1)|p.I369I(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GGTCACACCCAGGGGGACGATGTCCCCAAA	0.624																																																2	Substitution - coding silent(2)	urinary_tract(2)																																								SO:0001589	frameshift_variant	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1106_1115delTCGTCCCCCT	chr22.hg19:g.42523507_42523516delAGGGGGACGA	ENSP00000353820:p.Ile369fs		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Frame_Shift_Del	DEL	ENST00000360608.5	hg19	CCDS46721.1																																																																																				0.624	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			-	42523516	AGGGGGACGA	-	42523507	7	5	292	1	0	1	0	1	0	0	0	0	4171	188	7	0	390	0	CYP2D6	22	42523507	Frame_Shift_Del	DEL	AGGGGGACGA	TCGA-B9-4113-01A-01D-1252-08	20203773	42523507	8781059	66	17346											
LONRF3	79836	hgsc.bcm.edu	37	X	118109101	118109101	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4113-01A-01D-1252-08	TCGA-B9-4113-11A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	527ea66a-fb9e-4308-b49d-48226ac05304	881301ff-ec26-46fd-834f-93d9b3ec8da0	g.chrX:118109101G>T	ENST00000371628.3	+	1	389	c.358G>T	c.(358-360)Gcg>Tcg	p.A120S	LONRF3_ENST00000422289.2_5'Flank|LONRF3_ENST00000304778.7_Missense_Mutation_p.A120S	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	120							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCAAGGCGAGGCGCTGGCGCC	0.731																																																0													2	3	3					X																	118109101		1637	3395	5032	SO:0001583	missense	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.358G>T	chrX.hg19:g.118109101G>T	ENSP00000360690:p.Ala120Ser		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	hg19	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	G	3.593	-0.083174	0.07141	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.80738	-1.41;-1.41;-1.17	4.27	3.38	0.38709	.	1.631660	0.03606	N	0.234137	T	0.65544	0.2701	N	0.08118	0	0.80722	D	1	B;B	0.23249	0.082;0.062	B;B	0.24394	0.053;0.024	T	0.41052	-0.9530	10	0.09590	T	0.72	-3.3969	10.5187	0.44905	0.0:0.1987:0.8013:0.0	.	120;120	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	S	120	ENSP00000360691:A120S;ENSP00000307732:A120S;ENSP00000360690:A120S	ENSP00000307732:A120S	A	+	1	0	LONRF3	117993129	0.999000	0.42202	0.063000	0.19743	0.011000	0.07611	1.162000	0.31786	0.786000	0.33708	0.529000	0.55759	GCG		0.731	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		T	118109101	G	T	118109101	3	4	292	1	0	0	0	0	1	0	0	0	8898	1203	42	4	360	4	LONRF3	23	118109101	Missense_Mutation	SNP	G	TCGA-B9-4113-01A-01D-1252-08		118109101	37161459	67	17347											
ZYG11B	79699	hgsc.bcm.edu	37	1	53236935	53236935	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:53236935C>A	ENST00000294353.6	+	3	585	c.440C>A	c.(439-441)aCt>aAt	p.T147N	ZYG11B_ENST00000443756.2_Missense_Mutation_p.T147N|ZYG11B_ENST00000545132.1_Missense_Mutation_p.T147N	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	147										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AATTCATTAACTCTCTCCCTC	0.478																																																0													97	94	95					1																	53236935		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.440C>A	chr1.hg19:g.53236935C>A	ENSP00000294353:p.Thr147Asn		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	hg19	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745282	0.49151	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.07021	3.23;3.23;3.23	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	L	0.38175	1.15	0.58432	D	0.999994	B;B	0.24258	0.1;0.027	B;B	0.22753	0.041;0.013	T	0.24977	-1.0145	10	0.23891	T	0.37	.	19.6182	0.95643	0.0:1.0:0.0:0.0	.	147;147	B4DK95;Q9C0D3	.;ZY11B_HUMAN	N	147	ENSP00000400522:T147N;ENSP00000441315:T147N;ENSP00000294353:T147N	ENSP00000294353:T147N	T	+	2	0	ZYG11B	53009523	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.662000	0.68032	2.653000	0.90120	0.650000	0.86243	ACT		0.478	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		A	53236935	C	A	53236935	3	1	293	1	0	0	0	0	1	0	0	0	18258	565	20	4	450	4	ZYG11B	1	53236935	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08		53236935	196013686	1	17348											
SGIP1	84251	hgsc.bcm.edu	37	1	67138996	67138996	+	Missense_Mutation	SNP	C	C	A	rs142151342		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:67138996C>A	ENST00000371037.4	+	12	670	c.593C>A	c.(592-594)gCt>gAt	p.A198D	SGIP1_ENST00000371035.3_Missense_Mutation_p.A155D|SGIP1_ENST00000371036.3_Missense_Mutation_p.A165D|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371039.1_Missense_Mutation_p.A166D|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.A202D	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	198	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACGGCCCTTGCTCCTCTCTTT	0.363																																																0													177	185	183					1																	67138996		2203	4300	6503	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.593C>A	chr1.hg19:g.67138996C>A	ENSP00000360076:p.Ala198Asp		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	hg19	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332511	0.41297	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03330	3.97;3.97;3.97;3.97;3.97;3.97	5.73	5.73	0.89815	.	0.171335	0.52532	D	0.000074	T	0.04003	0.0112	N	0.17474	0.49	0.35690	D	0.814803	D	0.71674	0.998	D	0.76071	0.987	T	0.59736	-0.7398	10	0.11485	T	0.65	-18.8968	18.4621	0.90743	0.0:1.0:0.0:0.0	.	198	Q9BQI5	SGIP1_HUMAN	D	202;166;190;155;201;201;165;198	ENSP00000237247:A202D;ENSP00000360078:A166D;ENSP00000410439:A190D;ENSP00000360074:A155D;ENSP00000360075:A165D;ENSP00000360076:A198D	ENSP00000237247:A202D	A	+	2	0	SGIP1	66911584	0.996000	0.38824	1.000000	0.80357	0.595000	0.36748	4.773000	0.62331	2.718000	0.92993	0.650000	0.86243	GCT		0.363	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		A	67138996	C	A	67138996	3	1	293	1	0	0	0	0	1	0	0	0	14212	797	28	4	639	4	SGIP1	1	67138996	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	13902061	67138996	182111625	2	17349											
BCAR3	8412	hgsc.bcm.edu	37	1	94054731	94054731	+	Silent	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:94054731C>T	ENST00000370244.1	-	7	1020	c.732G>A	c.(730-732)caG>caA	p.Q244Q	BCAR3_ENST00000260502.6_Silent_p.Q244Q|BCAR3_ENST00000370247.3_Silent_p.Q153Q|BCAR3_ENST00000370243.1_Silent_p.Q244Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	244	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGGCGCCACTCTGCTGGGAGA	0.667																																																0													30	30	30					1																	94054731		2203	4300	6503	SO:0001819	synonymous_variant	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.732G>A	chr1.hg19:g.94054731C>T			D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	hg19	CCDS745.1																																																																																				0.667	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			T	94054731	C	T	94054731	2	4	293	1	0	0	0	0	0	0	0	1	1349	912	32	2		2	BCAR3	1	94054731	Silent	SNP	C	TCGA-B9-4114-01A-01D-1252-08	26915735	94054731	155195890	3	17350											
ATP1A1	476	hgsc.bcm.edu	37	1	116931576	116931576	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:116931576A>C	ENST00000295598.5	+	7	941	c.689A>C	c.(688-690)gAt>gCt	p.D230A	ATP1A1_ENST00000369496.4_Missense_Mutation_p.D199A|ATP1A1_ENST00000537345.1_Missense_Mutation_p.D230A|ATP1A1_ENST00000491156.1_3'UTR	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	230					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGGTCTCCAGATTTCACAAAT	0.453																																																0													86	90	89					1																	116931576		2203	4300	6503	SO:0001583	missense	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.689A>C	chr1.hg19:g.116931576A>C	ENSP00000295598:p.Asp230Ala		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	hg19	CCDS887.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674536	0.67928	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.90197	-2.63;-2.63;-2.63	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	L	0.41027	1.25	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.81493	-0.0908	10	0.87932	D	0	.	15.1179	0.72419	1.0:0.0:0.0:0.0	.	230;230	F5H3A1;P05023	.;AT1A1_HUMAN	A	230;230;229;199	ENSP00000295598:D230A;ENSP00000445306:D230A;ENSP00000358508:D199A	ENSP00000295598:D230A	D	+	2	0	ATP1A1	116733099	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	9.139000	0.94554	2.165000	0.68154	0.533000	0.62120	GAT		0.453	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		C	116931576	A	C	116931576	3	2	293	1	0	0	0	0	1	0	0	0	1128	333	12	5	731	5	ATP1A1	1	116931576	Missense_Mutation	SNP	A	TCGA-B9-4114-01A-01D-1252-08	22876845	116931576	132319045	4	17351											
CELF3	11189	hgsc.bcm.edu	37	1	151678722	151678722	+	Silent	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:151678722T>C	ENST00000290583.4	-	10	1897	c.1104A>G	c.(1102-1104)caA>caG	p.Q368Q	CELF3_ENST00000392706.3_Silent_p.Q163Q|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Silent_p.Q318Q|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	368	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgctgttgctgctgct	0.657																																																0													19	20	20					1																	151678722		2200	4297	6497	SO:0001819	synonymous_variant	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1104A>G	chr1.hg19:g.151678722T>C			B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	hg19	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	4.938	0.174339	0.09391	.	.	ENSG00000159409	ENST00000420342	.	.	.	3.25	1.39	0.22231	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19943	-1.0290	4	.	.	.	-0.0118	5.4728	0.16680	0.0:0.7409:0.0:0.2591	.	.	.	.	S	369	.	.	N	-	2	0	CELF3	149945346	0.076000	0.21285	1.000000	0.80357	0.644000	0.38419	-0.812000	0.04496	0.416000	0.25844	-0.389000	0.06534	AAC		0.657	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		C	151678722	T	C	151678722	2	2	293	1	0	0	0	0	0	0	0	1	3219	1722	60	3		3	CELF3	1	151678722	Silent	SNP	T	TCGA-B9-4114-01A-01D-1252-08	34747146	151678722	97571899	5	17352											
PGLYRP3	114771	hgsc.bcm.edu	37	1	153279661	153279661	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:153279661G>C	ENST00000290722.1	-	2	190	c.138C>G	c.(136-138)taC>taG	p.Y46*		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	46					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTGATGATGTAGGCCACAG	0.622																																																0													53	47	49					1																	153279661		2203	4300	6503	SO:0001587	stop_gained	114771			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.138C>G	chr1.hg19:g.153279661G>C	ENSP00000290722:p.Tyr46*		A1A4U8|Q5SY65	Nonsense_Mutation	SNP	ENST00000290722.1	hg19	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582950	0.46006	.	.	ENSG00000159527	ENST00000290722	.	.	.	4.06	-2.35	0.06684	.	0.381500	0.19389	N	0.115444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6165	8.7113	0.34385	0.4751:0.0:0.5249:0.0	.	.	.	.	X	46	.	ENSP00000290722:Y46X	Y	-	3	2	PGLYRP3	151546285	0.000000	0.05858	0.045000	0.18777	0.020000	0.10135	-0.301000	0.08232	-0.603000	0.05767	-0.137000	0.14449	TAC		0.622	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		C	153279661	G	C	153279661	4	2	293	1	0	0	0	0	0	1	0	0	11797	1372	48	4	911	4	PGLYRP3	1	153279661	Nonsense_Mutation	SNP	G	TCGA-B9-4114-01A-01D-1252-08	1600939	153279661	95970960	6	17353											
IRF2BP2	359948	hgsc.bcm.edu	37	1	234743056	234743058	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	AGC	AGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:234743056_234743058delAGC	ENST00000366609.3	-	2	1619_1621	c.1589_1591delGCT	c.(1588-1593)tgcttc>ttc	p.C530del	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_In_Frame_Del_p.C514del|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	530	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GAGCAAGGGAAGCAGAACTTGTG	0.586																																																0																																										SO:0001651	inframe_deletion	359948			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1589_1591delGCT	chr1.hg19:g.234743056_234743058delAGC	ENSP00000355568:p.Cys530del		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	In_Frame_Del	DEL	ENST00000366609.3	hg19	CCDS1602.1																																																																																				0.586	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		-	234743058	AGC	-	234743056	7	5	293	1	0	1	0	1	0	0	0	0	7832	72	3	0	176	0	IRF2BP2	1	234743056	In_Frame_Del	DEL	AGC	TCGA-B9-4114-01A-01D-1252-08	81463395	234743056	14507565	7	17354											
CAPN13	92291	hgsc.bcm.edu	37	2	30955349	30955349	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:30955349A>T	ENST00000295055.8	-	20	2058	c.1882T>A	c.(1882-1884)Ttc>Atc	p.F628I	CAPN13_ENST00000534090.2_Missense_Mutation_p.F628I	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	628					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGCTGGGGAAGCTGACCCTG	0.597																																																0													27	31	30					2																	30955349		2106	4221	6327	SO:0001583	missense	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1882T>A	chr2.hg19:g.30955349A>T	ENSP00000295055:p.Phe628Ile		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	hg19	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	a	26.8	4.772877	0.90108	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.35789	1.29;1.29	5.5	5.5	0.81552	EF-hand-like domain (1);	0.051382	0.85682	D	0.000000	T	0.63414	0.2509	M	0.87038	2.855	0.43787	D	0.996328	D	0.89917	1.0	D	0.68621	0.959	T	0.70539	-0.4844	10	0.87932	D	0	.	13.1283	0.59368	1.0:0.0:0.0:0.0	.	628	Q6MZZ7	CAN13_HUMAN	I	628	ENSP00000295055:F628I;ENSP00000431298:F628I	ENSP00000295055:F628I	F	-	1	0	CAPN13	30808853	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.047000	0.64232	2.094000	0.63399	0.529000	0.55759	TTC		0.597	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		T	30955349	A	T	30955349	3	4	293	1	0	0	0	0	1	0	0	0	2628	72	3	5	139	5	CAPN13	2	30955349	Missense_Mutation	SNP	A	TCGA-B9-4114-01A-01D-1252-08		30955349	212244024	8	17355											
TRAK2	66008	hgsc.bcm.edu	37	2	202262967	202262967	+	Silent	SNP	G	G	A	rs201579398		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:202262967G>A	ENST00000332624.3	-	6	1019	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TRAK2_ENST00000430254.1_Silent_p.F197F	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	197	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGGACTCATTGAACCGAAGAG	0.438																																																0								G		0,4406		0,0,2203	128	123	125		591	4.9	1	2		125	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRAK2	NM_015049.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		197/915	202262967	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	66008			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.591C>T	chr2.hg19:g.202262967G>A			E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Silent	SNP	ENST00000332624.3	hg19	CCDS2347.1																																																																																				0.438	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		A	202262967	G	A	202262967	2	1	293	1	0	0	0	0	0	0	0	1	16455	1281	45	2		2	TRAK2	2	202262967	Silent	SNP	G	TCGA-B9-4114-01A-01D-1252-08	171307618	202262967	40936406	9	17356											
SP140	11262	hgsc.bcm.edu	37	2	231177371	231177371	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:231177371C>T	ENST00000392045.3	+	27	2690	c.2576C>T	c.(2575-2577)gCt>gTt	p.A859V	SP140_ENST00000417495.3_Missense_Mutation_p.A745V|SP140_ENST00000420434.3_Missense_Mutation_p.A832V|SP140_ENST00000343805.6_Missense_Mutation_p.A799V|SP140_ENST00000486687.2_Intron|SP140_ENST00000350136.5_Missense_Mutation_p.A728V	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	859					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAGTGTTTGCTATTCAGGAA	0.393																																																0													157	145	149					2																	231177371		1872	4114	5986	SO:0001583	missense	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2576C>T	chr2.hg19:g.231177371C>T	ENSP00000375899:p.Ala859Val		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	hg19	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321189	0.60634	.	.	ENSG00000079263	ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	3.48	2.5	0.30297	Bromodomain (3);	.	.	.	.	T	0.57562	0.2062	M	0.68952	2.095	0.23645	N	0.997215	D;P;D;D	0.64830	0.993;0.956;0.992;0.994	D;B;P;P	0.72625	0.978;0.39;0.708;0.663	T	0.38499	-0.9658	9	0.87932	D	0	-5.2094	7.4406	0.27181	0.2583:0.7417:0.0:0.0	.	832;745;799;859	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	V	728;859;745;799;832	ENSP00000345846:A728V;ENSP00000375899:A859V;ENSP00000342096:A799V;ENSP00000398210:A832V	ENSP00000342096:A799V	A	+	2	0	SP140	230885615	0.425000	0.25498	0.936000	0.37596	0.918000	0.54935	0.202000	0.17295	1.966000	0.57179	0.462000	0.41574	GCT		0.393	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		T	231177371	C	T	231177371	3	4	293	1	0	0	0	0	1	0	0	0	14968	797	28	2	2799	2	SP140	2	231177371	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	28914404	231177371	12022002	10	17357											
IFT57	55081	hgsc.bcm.edu	37	3	107937434	107937434	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:107937434G>C	ENST00000264538.3	-	3	689	c.442C>G	c.(442-444)Ctt>Gtt	p.L148V		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	148					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			AAGCAATCAAGAACATAGCAT	0.343																																																0													73	74	73					3																	107937434		2203	4299	6502	SO:0001583	missense	55081			AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"Intraflagellar transport homologs"	17367	protein-coding gene	gene with protein product		606621	"estrogen-related receptor beta like 1", "intraflagellar transport 57 homolog (Chlamydomonas)"	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.442C>G	chr3.hg19:g.107937434G>C	ENSP00000264538:p.Leu148Val		Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	hg19	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034317	0.75617	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.99	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84584	0.5504	M	0.90977	3.165	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.87397	0.2367	9	0.51188	T	0.08	.	15.0869	0.72162	0.0674:0.0:0.9326:0.0	.	148	Q9NWB7	IFT57_HUMAN	V	148	.	ENSP00000264538:L148V	L	-	1	0	IFT57	109420124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.875000	0.69660	1.540000	0.49301	0.655000	0.94253	CTT		0.343	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		C	107937434	G	C	107937434	3	2	293	1	0	0	0	0	1	0	0	0	7564	942	33	4	883	4	IFT57	3	107937434	Missense_Mutation	SNP	G	TCGA-B9-4114-01A-01D-1252-08		107937434	90084996	11	17358											
PVRL3	25945	hgsc.bcm.edu	37	3	110852638	110852638	+	Missense_Mutation	SNP	T	T	G	rs537220727		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:110852638T>G	ENST00000485303.1	+	6	1501	c.1226T>G	c.(1225-1227)gTa>gGa	p.V409G	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	409					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ATTGCTAGTGTAGTGGGTGGG	0.438																																																0													174	171	172					3																	110852638		2203	4300	6503	SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1226T>G	chr3.hg19:g.110852638T>G	ENSP00000418070:p.Val409Gly		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	hg19	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287793	0.23478	.	.	ENSG00000177707	ENST00000485303	T	0.19532	2.14	5.76	4.63	0.57726	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.108700	0.64402	D	0.000009	T	0.15522	0.0374	L	0.38175	1.15	0.80722	D	1	B	0.27229	0.172	B	0.22386	0.039	T	0.05632	-1.0873	10	0.87932	D	0	.	7.2403	0.26092	0.0:0.1282:0.0:0.8717	.	409	Q9NQS3	PVRL3_HUMAN	G	409	ENSP00000418070:V409G	ENSP00000418070:V409G	V	+	2	0	PVRL3	112335328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.306000	0.51881	2.206000	0.71126	0.383000	0.25322	GTA		0.438	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		G	110852638	T	G	110852638	3	3	293	1	0	0	0	0	1	0	0	0	12847	1638	57	5	1248	5	PVRL3	3	110852638	Missense_Mutation	SNP	T	TCGA-B9-4114-01A-01D-1252-08	2915204	110852638	87169792	12	17359											
RARRES1	5918	hgsc.bcm.edu	37	3	158422600	158422600	+	Missense_Mutation	SNP	G	G	C	rs140091959		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:158422600G>C	ENST00000237696.5	-	4	932	c.652C>G	c.(652-654)Ctc>Gtc	p.L218V	RARRES1_ENST00000498640.1_5'UTR|RARRES1_ENST00000479756.1_Missense_Mutation_p.L218V	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	218					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	ACACTAGTGAGCTGTGCCAAG	0.443																																																0													114	102	106					3																	158422600		2203	4300	6503	SO:0001583	missense	5918			U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"latexin-like"	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.652C>G	chr3.hg19:g.158422600G>C	ENSP00000237696:p.Leu218Val		Q8N1D7	Missense_Mutation	SNP	ENST00000237696.5	hg19	CCDS3184.1	.	.	.	.	.	.	.	.	.	.	-	6.185	0.402312	0.11696	.	.	ENSG00000118849	ENST00000237696;ENST00000479756	T;T	0.26660	1.72;1.72	5.2	2.23	0.28157	.	0.201181	0.42821	D	0.000657	T	0.17408	0.0418	L	0.33485	1.01	0.23969	N	0.996317	B;B	0.29136	0.234;0.036	B;B	0.32289	0.143;0.021	T	0.19484	-1.0304	10	0.23891	T	0.37	.	8.0807	0.30744	0.0:0.1549:0.525:0.3201	.	218;218	P49788-2;P49788	.;TIG1_HUMAN	V	218	ENSP00000237696:L218V;ENSP00000418556:L218V	ENSP00000237696:L218V	L	-	1	0	RARRES1	159905294	0.982000	0.34865	0.467000	0.27180	0.899000	0.52679	0.162000	0.16501	0.572000	0.29383	0.387000	0.25754	CTC		0.443	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1			C	158422600	G	C	158422600	3	2	293	1	0	0	0	0	1	0	0	0	13061	971	34	4	259	4	RARRES1	3	158422600	Missense_Mutation	SNP	G	TCGA-B9-4114-01A-01D-1252-08	47569962	158422600	39599830	13	17360											
EVC	2121	hgsc.bcm.edu	37	4	5721079	5721079	+	Silent	SNP	G	G	A	rs373072919		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:5721079G>A	ENST00000264956.6	+	2	463	c.279G>A	c.(277-279)tcG>tcA	p.S93S	EVC_ENST00000509451.1_Silent_p.S93S|EVC_ENST00000382674.2_Silent_p.S93S	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	93					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGCAGATGTCGAAGGACAAGG	0.512																																																0								G		0,4406		0,0,2203	251	241	245		279	-5.8	0	4		245	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EVC	NM_153717.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		93/993	5721079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2121			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.279G>A	chr4.hg19:g.5721079G>A				Silent	SNP	ENST00000264956.6	hg19	CCDS3383.1																																																																																				0.512	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			A	5721079	G	A	5721079	2	1	293	1	0	0	0	0	0	0	0	1	5287	1045	37	1		1	EVC	4	5721079	Silent	SNP	G	TCGA-B9-4114-01A-01D-1252-08		5721079	185433197	14	17361											
KCTD8	386617	hgsc.bcm.edu	37	4	44449785	44449785	+	Silent	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:44449785G>A	ENST00000360029.3	-	1	1039	c.756C>T	c.(754-756)ctC>ctT	p.L252L	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	252					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGCTCTCGTTGAGCGTGTCCC	0.657										HNSCC(17;0.042)																																						0													40	34	36					4																	44449785		2203	4300	6503	SO:0001819	synonymous_variant	386617			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.756C>T	chr4.hg19:g.44449785G>A			A2RU39	Silent	SNP	ENST00000360029.3	hg19	CCDS3467.1																																																																																				0.657	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			A	44449785	G	A	44449785	2	1	293	1	0	0	0	0	0	0	0	1	8117	1277	45	2		2	KCTD8	4	44449785	Silent	SNP	G	TCGA-B9-4114-01A-01D-1252-08	38728706	44449785	146704491	15	17362											
LNX1	84708	hgsc.bcm.edu	37	4	54343092	54343092	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:54343092C>T	ENST00000263925.7	-	9	2034	c.1720G>A	c.(1720-1722)Gca>Aca	p.A574T	LNX1_ENST00000306888.2_Missense_Mutation_p.A478T|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	574	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AATGCCACTGCCTCACTCCGG	0.488																																																0													166	166	166					4																	54343092		2203	4300	6503	SO:0001583	missense	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1720G>A	chr4.hg19:g.54343092C>T	ENSP00000263925:p.Ala574Thr		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	hg19	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304671	0.81136	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.51574	0.7;0.7	5.16	5.16	0.70880	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82024	-0.0662	10	0.87932	D	0	.	18.8374	0.92168	0.0:1.0:0.0:0.0	.	574;478	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	T	478;412;574	ENSP00000302879:A478T;ENSP00000263925:A574T	ENSP00000263925:A574T	A	-	1	0	LNX1	54037849	1.000000	0.71417	0.998000	0.56505	0.311000	0.27955	6.748000	0.74877	2.687000	0.91594	0.561000	0.74099	GCA		0.488	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			T	54343092	C	T	54343092	3	4	293	1	0	0	0	0	1	0	0	0	8867	739	26	2	478	2	LNX1	4	54343092	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	9893307	54343092	136811184	16	17363											
AGPAT9	84803	hgsc.bcm.edu	37	4	84457815	84457815	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:84457815T>C	ENST00000395226.2	+	2	258	c.40T>C	c.(40-42)Tgg>Cgg	p.W14R	AGPAT9_ENST00000264409.4_Missense_Mutation_p.W14R	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	14					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCTTTCCACCTGGCTGACGCT	0.582																																																0													88	69	75					4																	84457815		2203	4300	6503	SO:0001583	missense	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.40T>C	chr4.hg19:g.84457815T>C	ENSP00000378651:p.Trp14Arg		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	hg19	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.459554	0.84317	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.48201	0.82;0.82	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.86028	2.79	0.47374	D	0.999407	D	0.58970	0.984	P	0.54372	0.75	T	0.71341	-0.4622	10	0.59425	D	0.04	-8.2831	13.1799	0.59649	0.0:0.0:0.0:1.0	.	14	Q53EU6	GPAT3_HUMAN	R	14	ENSP00000378651:W14R;ENSP00000264409:W14R	ENSP00000264409:W14R	W	+	1	0	AGPAT9	84676839	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.587000	0.53957	1.760000	0.52011	0.374000	0.22700	TGG		0.582	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		C	84457815	T	C	84457815	3	2	293	1	0	0	0	0	1	0	0	0	392	1580	55	3	42	3	AGPAT9	4	84457815	Missense_Mutation	SNP	T	TCGA-B9-4114-01A-01D-1252-08	30114723	84457815	106696461	17	17364											
SEMA5A	9037	hgsc.bcm.edu	37	5	9119220	9119220	+	Silent	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:9119220A>T	ENST00000382496.5	-	15	2480	c.1815T>A	c.(1813-1815)tcT>tcA	p.S605S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	605	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCTGCAGGGAGACCACGAGG	0.652																																																0													57	51	53					5																	9119220		2203	4300	6503	SO:0001819	synonymous_variant	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1815T>A	chr5.hg19:g.9119220A>T			D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	hg19	CCDS3875.1																																																																																				0.652	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			T	9119220	A	T	9119220	2	4	293	1	0	0	0	0	0	0	0	1	14043	291	11	5		5	SEMA5A	5	9119220	Silent	SNP	A	TCGA-B9-4114-01A-01D-1252-08		9119220	171796040	18	17365											
RAI14	26064	hgsc.bcm.edu	37	5	34757668	34757668	+	Silent	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:34757668C>T	ENST00000265109.3	+	3	419	c.132C>T	c.(130-132)gcC>gcT	p.A44A	RAI14_ENST00000503673.1_Silent_p.A44A|RAI14_ENST00000515799.1_Silent_p.A47A|RAI14_ENST00000512629.1_Silent_p.A44A|RAI14_ENST00000506376.1_Silent_p.A36A|RAI14_ENST00000428746.2_Silent_p.A44A|RAI14_ENST00000397449.1_Silent_p.A37A|RAI14_ENST00000507276.1_3'UTR	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	44			A -> T (in dbSNP:rs17521570).			actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGAAGGGGGCCAGTGCCACCA	0.542																																																0													74	71	72					5																	34757668		2203	4300	6503	SO:0001819	synonymous_variant	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.132C>T	chr5.hg19:g.34757668C>T			E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	hg19	CCDS34142.1																																																																																				0.542	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		T	34757668	C	T	34757668	2	4	293	1	0	0	0	0	0	0	0	1	13014	581	21	2		2	RAI14	5	34757668	Silent	SNP	C	TCGA-B9-4114-01A-01D-1252-08	25638448	34757668	146157592	19	17366											
PARP8	79668	hgsc.bcm.edu	37	5	50123848	50123848	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:50123848T>A	ENST00000281631.5	+	20	2206	c.2048T>A	c.(2047-2049)tTt>tAt	p.F683Y	PARP8_ENST00000505697.2_Missense_Mutation_p.F683Y|PARP8_ENST00000514067.2_Missense_Mutation_p.F641Y|PARP8_ENST00000505554.1_Missense_Mutation_p.F662Y|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.F394Y|PARP8_ENST00000503750.2_Missense_Mutation_p.F641Y	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	683	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GAATCCAATTTTAGAGCTGCT	0.383																																																0													127	124	125					5																	50123848		2203	4300	6503	SO:0001583	missense	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2048T>A	chr5.hg19:g.50123848T>A	ENSP00000281631:p.Phe683Tyr		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	hg19	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379826	0.82682	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21	5.7	5.7	0.88788	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.059647	0.64402	D	0.000002	T	0.34193	0.0889	L	0.48935	1.535	0.54753	D	0.99998	D;P;P	0.53619	0.961;0.954;0.891	P;D;P	0.66351	0.492;0.943;0.492	T	0.01382	-1.1369	9	.	.	.	-16.5844	15.9599	0.79923	0.0:0.0:0.0:1.0	.	575;641;683	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	Y	683;641;394;683;641;662;394;394	ENSP00000422217:F683Y;ENSP00000440851:F641Y;ENSP00000439022:F394Y;ENSP00000281631:F683Y;ENSP00000424814:F641Y;ENSP00000423946:F662Y	.	F	+	2	0	PARP8	50159605	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	8.036000	0.88901	2.153000	0.67306	0.533000	0.62120	TTT		0.383	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		A	50123848	T	A	50123848	3	1	293	1	0	0	0	0	1	0	0	0	11467	1841	64	5	2126	5	PARP8	5	50123848	Missense_Mutation	SNP	T	TCGA-B9-4114-01A-01D-1252-08	15366180	50123848	130791412	20	17367											
NR2F1	7025	hgsc.bcm.edu	37	5	92929424	92929424	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:92929424C>A	ENST00000327111.3	+	3	2835	c.1148C>A	c.(1147-1149)tCc>tAc	p.S383Y	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	383					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GTGTCCTCCTCCGTCATCGAG	0.582																																																0													123	118	120					5																	92929424		2203	4300	6503	SO:0001583	missense	7025			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1148C>A	chr5.hg19:g.92929424C>A	ENSP00000325819:p.Ser383Tyr			Missense_Mutation	SNP	ENST00000327111.3	hg19	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607237	0.87157	.	.	ENSG00000175745	ENST00000327111	D	0.96856	-4.15	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.96482	0.8852	L	0.52206	1.635	0.80722	D	1	P	0.48294	0.908	P	0.50490	0.642	D	0.96365	0.9269	10	0.87932	D	0	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	383	P10589	COT1_HUMAN	Y	383	ENSP00000325819:S383Y	ENSP00000325819:S383Y	S	+	2	0	NR2F1	92955180	1.000000	0.71417	0.974000	0.42286	0.983000	0.72400	6.074000	0.71253	2.941000	0.99782	0.655000	0.94253	TCC		0.582	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		A	92929424	C	A	92929424	3	1	293	1	0	0	0	0	1	0	0	0	10629	855	30	4	1158	4	NR2F1	5	92929424	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	42805576	92929424	87985836	21	17368											
POU5F2	134187	hgsc.bcm.edu	37	5	93076682	93076682	+	Silent	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:93076682A>T	ENST00000510627.4	-	1	661	c.588T>A	c.(586-588)ctT>ctA	p.L196L	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	196					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		ATAAGCCCAGAAGGTTCTCTG	0.542																																																0													107	107	107					5																	93076682		2115	4250	6365	SO:0001819	synonymous_variant	134187				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.588T>A	chr5.hg19:g.93076682A>T			Q15169|Q6MZL7|Q8N748	Silent	SNP	ENST00000510627.4	hg19	CCDS59489.1																																																																																				0.542	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		T	93076682	A	T	93076682	2	4	293	1	0	0	0	0	0	0	0	1	12285	233	9	5		5	POU5F2	5	93076682	Silent	SNP	A	TCGA-B9-4114-01A-01D-1252-08	147258	93076682	87838578	22	17369											
FNIP1	96459	hgsc.bcm.edu	37	5	131042155	131042155	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:131042155C>A	ENST00000510461.1	-	9	958	c.863G>T	c.(862-864)cGt>cTt	p.R288L	FNIP1_ENST00000511848.1_Missense_Mutation_p.R288L|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.R260L|FNIP1_ENST00000307954.8_Missense_Mutation_p.R243L	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	288					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GCGTCGCCAACGTCGCTGGTA	0.453																																																0													100	93	96					5																	131042155		2203	4300	6503	SO:0001583	missense	96459			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.863G>T	chr5.hg19:g.131042155C>A	ENSP00000421985:p.Arg288Leu		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	hg19	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	36	5.709610	0.96821	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.47528	1.83;1.67;1.57;0.84	5.6	5.6	0.85130	.	.	.	.	.	T	0.73473	0.3591	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.998;0.994;0.998;0.999	T	0.76340	-0.2995	9	0.87932	D	0	-7.1358	19.9737	0.97296	0.0:1.0:0.0:0.0	.	288;288;260;288	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	L	260;243;48;288;288	ENSP00000309266:R260L;ENSP00000310453:R243L;ENSP00000421985:R288L;ENSP00000425619:R288L	ENSP00000310453:R243L	R	-	2	0	FNIP1	131070054	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.776000	0.85560	2.793000	0.96121	0.591000	0.81541	CGT		0.453	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		A	131042155	C	A	131042155	3	1	293	1	0	0	0	0	1	0	0	0	5977	536	19	4	2677	4	FNIP1	5	131042155	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	37965473	131042155	49873105	23	17370											
PCDHGA12	26025	hgsc.bcm.edu	37	5	140811171	140811177	+	Frame_Shift_Del	DEL	GGTATGT	GGTATGT	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	GGTATGT	GGTATGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:140811171_140811177delGGTATGT	ENST00000252085.3	+	1	987_993	c.845_851delGGTATGT	c.(844-852)cggtatgtgfs	p.RYV282fs	PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	282	Cadherin 3. {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(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTCCTTCCGGTATGTGGACGACAAG	0.522																																																0																																										SO:0001589	frameshift_variant	26025			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.845_851delGGTATGT	chr5.hg19:g.140811171_140811177delGGTATGT	ENSP00000252085:p.Arg282fs		O15100|Q6UW70|Q9Y5D7	Frame_Shift_Del	DEL	ENST00000252085.3	hg19	CCDS4260.1																																																																																				0.522	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		-	140811177	GGTATGT	-	140811171	7	5	293	1	0	1	0	1	0	0	0	0	11555	1116	39	0	847	0	PCDHGA12	5	140811171	Frame_Shift_Del	DEL	GGTATGT	TCGA-B9-4114-01A-01D-1252-08	9769016	140811171	40104089	24	17371											
HLA-DQA2	3118	hgsc.bcm.edu	37	6	32713781	32713781	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:32713781C>T	ENST00000374940.3	+	3	647	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	182	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TTCCTCCCTTCTGCTGATGAG	0.502																																																0													191	211	204					6																	32713781		1511	2707	4218	SO:0001583	missense	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.545C>T	chr6.hg19:g.32713781C>T	ENSP00000364076:p.Ser182Phe		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	hg19	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	13.77	2.336406	0.41398	.	.	ENSG00000237541	ENST00000374940	T	0.03152	4.03	3.06	2.06	0.26882	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.585185	0.16577	U	0.208364	T	0.10035	0.0246	M	0.89478	3.035	0.30030	N	0.813521	D	0.89917	1.0	D	0.97110	1.0	T	0.01553	-1.1326	10	0.66056	D	0.02	.	7.1176	0.25424	0.4092:0.5908:0.0:0.0	.	182	P01906	DQA2_HUMAN	F	182	ENSP00000364076:S182F	ENSP00000364076:S182F	S	+	2	0	HLA-DQA2	32821759	0.009000	0.17119	0.999000	0.59377	0.758000	0.43043	0.626000	0.24492	1.700000	0.51204	0.174000	0.16983	TCT		0.502	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		T	32713781	C	T	32713781	3	4	293	1	0	0	0	0	1	0	0	0	7207	913	32	2	555	2	HLA-DQA2	6	32713781	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08		32713781	138401286	25	17372											
LEMD2	221496	hgsc.bcm.edu	37	6	33748926	33748926	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:33748926A>C	ENST00000293760.5	-	4	877	c.858T>G	c.(856-858)aaT>aaG	p.N286K	LEMD2_ENST00000508327.1_5'UTR|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	286					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CACACTCAAAATTACCTAGGA	0.368																																																0													74	68	70					6																	33748926		2203	4300	6503	SO:0001583	missense	221496				CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.858T>G	chr6.hg19:g.33748926A>C	ENSP00000293760:p.Asn286Lys		B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	hg19	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.71|19.71	3.877584|3.877584	0.72294|0.72294	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000442696|ENST00000293760	.|.	.|.	.|.	5.65|5.65	3.27|3.27	0.37495|0.37495	.|Inner nuclear membrane protein MAN1 (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.33876|0.33876	0.0878|0.0878	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.64595	.|0.927	T|T	0.40664|0.40664	-0.9551|-0.9551	5|9	.|0.06099	.|T	.|0.92	-4.6423|-4.6423	8.5956|8.5956	0.33714|0.33714	0.8505:0.0:0.1495:0.0|0.8505:0.0:0.1495:0.0	.|.	.|286	.|Q8NC56	.|LEMD2_HUMAN	S|K	152|286	.|.	.|ENSP00000293760:N286K	I|N	-|-	2|3	0|2	LEMD2|LEMD2	33856904|33856904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.063000|2.063000	0.41423|0.41423	0.432000|0.432000	0.26286|0.26286	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.368	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		C	33748926	A	C	33748926	3	2	293	1	0	0	0	0	1	0	0	0	8722	98	4	5	677	5	LEMD2	6	33748926	Missense_Mutation	SNP	A	TCGA-B9-4114-01A-01D-1252-08	1035145	33748926	137366141	26	17373											
TTBK1	84630	hgsc.bcm.edu	37	6	43251695	43251695	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:43251695C>A	ENST00000259750.4	+	14	3300	c.3217C>A	c.(3217-3219)Ctg>Atg	p.L1073M		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1073					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTCAGGCTCACTGTCGGCCAA	0.687																																																0													18	19	18					6																	43251695		2183	4238	6421	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3217C>A	chr6.hg19:g.43251695C>A	ENSP00000259750:p.Leu1073Met		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	hg19	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945410	0.34377	.	.	ENSG00000146216	ENST00000259750	T	0.55413	0.52	5.02	3.14	0.36123	.	0.348022	0.23768	N	0.044741	T	0.27349	0.0671	L	0.36672	1.1	0.80722	D	1	B	0.19200	0.034	B	0.14023	0.01	T	0.30736	-0.9968	10	0.56958	D	0.05	.	11.2746	0.49159	0.1311:0.7259:0.143:0.0	.	1073	Q5TCY1	TTBK1_HUMAN	M	1073	ENSP00000259750:L1073M	ENSP00000259750:L1073M	L	+	1	2	TTBK1	43359673	0.733000	0.28132	0.999000	0.59377	0.950000	0.60333	1.377000	0.34317	2.326000	0.78906	0.455000	0.32223	CTG		0.687	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			A	43251695	C	A	43251695	3	1	293	1	0	0	0	0	1	0	0	0	16681	564	20	4	3267	4	TTBK1	6	43251695	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	9502769	43251695	127863372	27	17374											
ROS1	6098	hgsc.bcm.edu	37	6	117746764	117746764	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:117746764C>G	ENST00000368508.3	-	1	254	c.56G>C	c.(55-57)tGc>tCc	p.C19S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.C19S	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	19					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATCCATAGGCAGCCAAGAGT	0.388			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													120	119	119					6																	117746764		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.56G>C	chr6.hg19:g.117746764C>G	ENSP00000357494:p.Cys19Ser		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	hg19	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.155746	0.38021	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70631	-0.5;-0.5	5.11	2.22	0.28083	.	0.273852	0.26757	N	0.022646	T	0.41766	0.1173	L	0.51422	1.61	0.80722	D	1	B	0.14438	0.01	B	0.06405	0.002	T	0.42649	-0.9439	10	0.62326	D	0.03	.	3.545	0.07826	0.175:0.5642:0.1691:0.0917	.	19	P08922	ROS1_HUMAN	S	19	ENSP00000357494:C19S;ENSP00000357493:C19S	ENSP00000357493:C19S	C	-	2	0	ROS1	117853457	0.849000	0.29639	0.992000	0.48379	0.875000	0.50365	0.358000	0.20216	0.366000	0.24427	0.655000	0.94253	TGC		0.388	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			G	117746764	C	G	117746764	3	3	293	1	0	0	0	0	1	0	0	0	13537	710	25	4	7159	4	ROS1	6	117746764	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	74495069	117746764	53368303	28	17375											
TMEM184A	202915	hgsc.bcm.edu	37	7	1590513	1590513	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:1590513G>A	ENST00000297477.5	-	3	641	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	109					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCGAGGAGGAGGAGGCTGAGC	0.632																																																0													88	97	94					7																	1590513		2203	4300	6503	SO:0001583	missense	202915				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.325C>T	chr7.hg19:g.1590513G>A	ENSP00000297477:p.Leu109Phe		Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	hg19	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153532	0.78114	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.15	5.15	0.70609	.	0.000000	0.64402	U	0.000001	T	0.52677	0.1749	M	0.70787	2.145	0.80722	D	1	P	0.36599	0.56	B	0.41813	0.367	T	0.56450	-0.7977	10	0.51188	T	0.08	-14.3095	12.9955	0.58644	0.0782:0.0:0.9218:0.0	.	109	Q6ZMB5	T184A_HUMAN	F	109	ENSP00000297477:L109F;ENSP00000325945:L109F;ENSP00000398382:L109F;ENSP00000389092:L109F;ENSP00000403499:L109F	ENSP00000297477:L109F	L	-	1	0	TMEM184A	1557039	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.819000	0.86621	2.396000	0.81511	0.407000	0.27541	CTC		0.632	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		A	1590513	G	A	1590513	3	1	293	1	0	0	0	0	1	0	0	0	16109	1000	35	2	944	2	TMEM184A	7	1590513	Missense_Mutation	SNP	G	TCGA-B9-4114-01A-01D-1252-08		1590513	157548150	29	17376											
TFR2	7036	hgsc.bcm.edu	37	7	100228607	100228607	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:100228607C>T	ENST00000462107.1	-	10	1462	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.G392D|TFR2_ENST00000431692.1_Silent_p.G306G			Q9UP52	TFR2_HUMAN	transferrin receptor 2	392					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	TGGCCCGGGGCCCAGGTGATA	0.612																																																0													35	34	35					7																	100228607		2203	4300	6503	SO:0001583	missense	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.1175G>A	chr7.hg19:g.100228607C>T	ENSP00000420525:p.Gly392Asp		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	hg19	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012638	0.75161	.	.	ENSG00000106327	ENST00000223051;ENST00000462107	T;T	0.52983	0.64;0.64	4.74	4.74	0.60224	.	0.144170	0.45867	D	0.000322	T	0.70684	0.3252	M	0.91768	3.24	0.80722	D	1	D	0.69078	0.997	D	0.64042	0.921	T	0.73943	-0.3823	10	0.34782	T	0.22	-26.2357	13.0917	0.59169	0.0:1.0:0.0:0.0	.	392	Q9UP52	TFR2_HUMAN	D	392	ENSP00000223051:G392D;ENSP00000420525:G392D	ENSP00000223051:G392D	G	-	2	0	TFR2	100066543	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	1.935000	0.40173	2.470000	0.83445	0.561000	0.74099	GGC		0.612	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		T	100228607	C	T	100228607	3	4	293	1	0	0	0	0	1	0	0	0	15816	739	26	2	1270	2	TFR2	7	100228607	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	98638094	100228607	58910056	30	17377											
LOC441294	441294	hgsc.bcm.edu	37	7	143270908	143270908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:143270908delT	ENST00000420911.2	+	1	2015	c.1998delT	c.(1996-1998)aatfs	p.N666fs	RNU6-162P_ENST00000516228.1_RNA	NM_001008747.1	NP_001008747.1	A4D2H0	CTGEF_HUMAN	CTAGE family, member 15	666						integral component of membrane (GO:0016021)											CCAGTAGAAATGATGCCAAAG	0.418																																																0																																										SO:0001589	frameshift_variant	441294				CCDS64788.1	7q35	2013-02-25	2013-02-25	2013-02-25	ENSG00000176227	ENSG00000271079			37295	protein-coding gene	gene with protein product			"CTAGE family, member 15, pseudogene"	CTAGE15P			Standard	NM_001008747		Approved		uc011kth.3	A4D2H0	OTTHUMG00000153233	ENST00000420911.2:c.1998delT	chr7.hg19:g.143270908delT	ENSP00000474204:p.Asn666fs		A6H8Z8	Frame_Shift_Del	DEL	ENST00000420911.2	hg19																																																																																					0.418	CTAGE15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330280.2	NM_001008747		-	143270908	T	-	143270908	7	5	293	1	0	1	0	1	0	0	0	0	8882	1461	51	0	2000	0	LOC441294	7	143270908	Frame_Shift_Del	DEL	T	TCGA-B9-4114-01A-01D-1252-08	43042301	143270908	15867755	31	17378											
CTAGE6P	340307	hgsc.bcm.edu	37	7	143452754	143452754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:143452754delA	ENST00000470691.2	-	1	2035	c.1998delT	c.(1996-1998)aatfs	p.N666fs	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	666						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					CTTTGGCATCATTTCTACTGG	0.418																																																0																																										SO:0001589	frameshift_variant	340307			BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"CTAGE family, member 6, pseudogene"	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1998delT	chr7.hg19:g.143452754delA	ENSP00000474388:p.Asn666fs		A4FU29|Q3ZCM5	Frame_Shift_Del	DEL	ENST00000470691.2	hg19																																																																																					0.418	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561		-	143452754	A	-	143452754	7	5	293	1	0	1	0	1	0	0	0	0	3997	214	8	0	339	0	CTAGE6P	7	143452754	Frame_Shift_Del	DEL	A	TCGA-B9-4114-01A-01D-1252-08	181846	143452754	15685909	32	17379											
MLL3	58508	hgsc.bcm.edu	37	7	151882674	151882674	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:151882674T>G	ENST00000262189.6	-	34	5269	c.5051A>C	c.(5050-5052)aAa>aCa	p.K1684T	KMT2C_ENST00000355193.2_Missense_Mutation_p.K1684T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1684					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAGCTTGCTTTTCTCCACAA	0.343																																																0													142	123	130					7																	151882674		2202	4300	6502	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5051A>C	chr7.hg19:g.151882674T>G	ENSP00000262189:p.Lys1684Thr		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	hg19	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508980	0.64410	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.93604	-3.25;-3.25	5.03	5.03	0.67393	High mobility group, HMG1/HMG2 (1);	0.000000	0.49305	D	0.000155	D	0.94496	0.8228	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.94705	0.7887	10	0.51188	T	0.08	.	14.7869	0.69810	0.0:0.0:0.0:1.0	.	1684;745	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	1684	ENSP00000262189:K1684T;ENSP00000347325:K1684T	ENSP00000262189:K1684T	K	-	2	0	MLL3	151513607	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.888000	0.87302	1.889000	0.54706	0.523000	0.50628	AAA		0.343	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151882674	T	G	151882674	3	3	293	1	0	0	0	0	1	0	0	0	9624	1841	64	5	9788	5	MLL3	7	151882674	Missense_Mutation	SNP	T	TCGA-B9-4114-01A-01D-1252-08	8429920	151882674	7255989	33	17380											
AGPAT5	55326	hgsc.bcm.edu	37	8	6614714	6614714	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:6614714T>A	ENST00000285518.6	+	8	1212	c.900T>A	c.(898-900)gaT>gaA	p.D300E		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	300					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AGTCACCAGATCCAGAAAGAA	0.323																																																0													44	45	45					8																	6614714		2203	4300	6503	SO:0001583	missense	55326			AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20886	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, epsilon"	614796	"1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.900T>A	chr8.hg19:g.6614714T>A	ENSP00000285518:p.Asp300Glu		Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	hg19	CCDS34796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.60|19.60	3.858531|3.858531	0.71834|0.71834	.|.	.|.	ENSG00000155189|ENSG00000155189	ENST00000285518|ENST00000518327	T|.	0.62232|.	0.04|.	6.04|6.04	2.42|2.42	0.29668|0.29668	.|.	0.087594|.	0.85682|.	D|.	0.000000|.	T|T	0.62624|0.62624	0.2443|0.2443	M|M	0.72576|0.72576	2.205|2.205	0.53005|0.53005	D|D	0.999968|0.999968	P|.	0.37663|.	0.604|.	B|.	0.34779|.	0.189|.	T|T	0.56932|0.56932	-0.7897|-0.7897	10|5	0.09843|.	T|.	0.71|.	-7.4458|-7.4458	7.7568|7.7568	0.28930|0.28930	0.0:0.3185:0.0:0.6815|0.0:0.3185:0.0:0.6815	.|.	300|.	Q9NUQ2|.	PLCE_HUMAN|.	E|N	300|117	ENSP00000285518:D300E|.	ENSP00000285518:D300E|.	D|I	+|+	3|2	2|0	AGPAT5|AGPAT5	6602122|6602122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.618000|1.618000	0.36954|0.36954	0.190000|0.190000	0.20209|0.20209	0.459000|0.459000	0.35465|0.35465	GAT|ATC		0.323	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		A	6614714	T	A	6614714	3	1	293	1	0	0	0	0	1	0	0	0	390	1432	50	5	930	5	AGPAT5	8	6614714	Missense_Mutation	SNP	T	TCGA-B9-4114-01A-01D-1252-08		6614714	139749308	34	17381											
TNKS	8658	hgsc.bcm.edu	37	8	9413684	9413684	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:9413684C>G	ENST00000310430.6	+	1	261	c.235C>G	c.(235-237)Cga>Gga	p.R79G	RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Missense_Mutation_p.R79G|TNKS_ENST00000522110.1_Missense_Mutation_p.R79G	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	79					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.R79*(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CGACAGGCCCCGATCCCCGGA	0.701																																																2	Substitution - Nonsense(2)	large_intestine(2)											23	26	25					8																	9413684		2202	4299	6501	SO:0001583	missense	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.235C>G	chr8.hg19:g.9413684C>G	ENSP00000311579:p.Arg79Gly		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	hg19	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337846	0.41398	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000522110	T;T	0.62788	0.0;0.05	4.84	2.01	0.26516	.	0.123149	0.33457	N	0.004900	T	0.41096	0.1144	N	0.19112	0.55	0.26334	N	0.977462	B;B	0.17038	0.006;0.02	B;B	0.12837	0.008;0.008	T	0.28618	-1.0038	10	0.51188	T	0.08	.	5.6253	0.17478	0.3245:0.5507:0.0:0.1248	.	79;79	E7EWY6;O95271	.;TNKS1_HUMAN	G	79	ENSP00000428299:R79G;ENSP00000311579:R79G	ENSP00000311579:R79G	R	+	1	2	TNKS	9451094	0.020000	0.18652	0.999000	0.59377	0.985000	0.73830	0.272000	0.18644	0.719000	0.32188	-0.169000	0.13324	CGA		0.701	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		G	9413684	C	G	9413684	3	3	293	1	0	0	0	0	1	0	0	0	16324	644	23	4	237	4	TNKS	8	9413684	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	2798970	9413684	136950338	35	17382											
KIAA1967	57805	hgsc.bcm.edu	37	8	22464154	22464154	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:22464154T>A	ENST00000308511.4	+	4	434	c.185T>A	c.(184-186)gTt>gAt	p.V62D	CCAR2_ENST00000520861.1_5'Flank|CCAR2_ENST00000389279.3_Missense_Mutation_p.V62D|CCAR2_ENST00000521301.1_Missense_Mutation_p.V62D			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	62					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										ACTGGTATTGTTACCAGCTTG	0.463																																																0													154	131	139					8																	22464154		2203	4300	6503	SO:0001583	missense	57805			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.185T>A	chr8.hg19:g.22464154T>A	ENSP00000310670:p.Val62Asp		A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	hg19	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.584955|4.584955	0.86748|0.86748	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000523801;ENST00000518989|ENST00000308511;ENST00000521301;ENST00000389279;ENST00000521837;ENST00000523349	.|T;T	.|0.61040	.|0.14;0.14	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.76905	.|0.4053	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	.|T	.|0.80108	.|-0.1520	.|10	.|0.87932	.|D	.|0	-21.0092|-21.0092	14.0962|14.0962	0.65023|0.65023	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|62	.|Q8N163	.|K1967_HUMAN	X|D	69;14|62	.|ENSP00000310670:V62D;ENSP00000373930:V62D	.|ENSP00000310670:V62D	C|V	+|+	3|2	2|0	KIAA1967|KIAA1967	22520099|22520099	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.291000|6.291000	0.72719|0.72719	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TGT|GTT		0.463	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		A	22464154	T	A	22464154	3	1	293	1	0	0	0	0	1	0	0	0	8267	1725	60	5	195	5	KIAA1967	8	22464154	Missense_Mutation	SNP	T	TCGA-B9-4114-01A-01D-1252-08	13050470	22464154	123899868	36	17383											
KCNS2	3788	hgsc.bcm.edu	37	8	99441267	99441267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:99441267G>T	ENST00000287042.4	+	2	1410	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	KCNS2_ENST00000521839.1_Nonsense_Mutation_p.E354*	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	354					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TGAAAAGGAGGAGAACGAGGG	0.577																																					Pancreas(138;844 2489 9202 24627)											0													89	80	83					8																	99441267		2203	4300	6503	SO:0001587	stop_gained	3788			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1060G>T	chr8.hg19:g.99441267G>T	ENSP00000287042:p.Glu354*		A8KAN1	Nonsense_Mutation	SNP	ENST00000287042.4	hg19	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	40	8.203350	0.98704	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	.	.	.	5.91	5.91	0.95273	.	0.158483	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	.	.	.	X	354	.	ENSP00000287042:E354X	E	+	1	0	KCNS2	99510443	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GAG		0.577	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		T	99441267	G	T	99441267	4	4	293	1	0	0	0	0	0	1	0	0	8091	1175	41	4	1062	4	KCNS2	8	99441267	Nonsense_Mutation	SNP	G	TCGA-B9-4114-01A-01D-1252-08	76977113	99441267	46922755	37	17384											
FAM135B	51059	hgsc.bcm.edu	37	8	139164000	139164000	+	Silent	SNP	G	G	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:139164000G>T	ENST00000395297.1	-	13	2888	c.2718C>A	c.(2716-2718)ggC>ggA	p.G906G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	906										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTTAGGCATGCCCTTTGGGG	0.458										HNSCC(54;0.14)																																						0													128	126	127					8																	139164000		2203	4300	6503	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2718C>A	chr8.hg19:g.139164000G>T			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	hg19	CCDS6375.2																																																																																				0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		T	139164000	G	T	139164000	2	4	293	1	0	0	0	0	0	0	0	1	5451	1306	46	4		4	FAM135B	8	139164000	Silent	SNP	G	TCGA-B9-4114-01A-01D-1252-08	39722733	139164000	7200022	38	17385	135	2									
FAM135B	51059	hgsc.bcm.edu	37	8	139164004	139164004	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:139164004T>C	ENST00000395297.1	-	13	2884	c.2714A>G	c.(2713-2715)aAg>aGg	p.K905R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	905										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCATGCCCTTTGGGGTTTC	0.468										HNSCC(54;0.14)																																						0													125	124	124					8																	139164004		2203	4300	6503	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2714A>G	chr8.hg19:g.139164004T>C	ENSP00000378710:p.Lys905Arg		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	hg19	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	15.06	2.721538	0.48728	.	.	ENSG00000147724	ENST00000395297	T	0.16597	2.33	5.33	4.15	0.48705	.	0.392353	0.28031	N	0.016877	T	0.19127	0.0459	L	0.32530	0.975	0.09310	N	1	P;P;B	0.51351	0.944;0.728;0.164	P;B;B	0.50617	0.646;0.343;0.04	T	0.04017	-1.0984	10	0.46703	T	0.11	-11.8381	9.5929	0.39557	0.1559:0.0:0.0:0.8441	.	905;905;905	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	R	905	ENSP00000378710:K905R	ENSP00000276737:K905R	K	-	2	0	FAM135B	139233186	0.652000	0.27349	0.013000	0.15412	0.286000	0.27126	4.148000	0.58085	0.833000	0.34828	0.533000	0.62120	AAG		0.468	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		C	139164004	T	C	139164004	3	2	293	1	0	0	0	0	1	0	0	0	5451	1609	56	3	1538	3	FAM135B	8	139164004	Missense_Mutation	SNP	T	TCGA-B9-4114-01A-01D-1252-08	4	139164004	7200018	39	17386	135	2									
UNC13B	10497	hgsc.bcm.edu	37	9	35375163	35375163	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr9:35375163A>G	ENST00000378495.3	+	13	1555	c.1333A>G	c.(1333-1335)Atg>Gtg	p.M445V	UNC13B_ENST00000378496.4_Missense_Mutation_p.M445V|UNC13B_ENST00000396787.1_Missense_Mutation_p.M457V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	445					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CACTTCTGCAATGGCTACACG	0.537																																																0													240	213	222					9																	35375163		2203	4300	6503	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1333A>G	chr9.hg19:g.35375163A>G	ENSP00000367756:p.Met445Val		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	hg19	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903474	0.33628	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.61040	0.14;0.14;0.14	5.81	3.16	0.36331	.	0.084309	0.85682	D	0.000000	T	0.40932	0.1137	L	0.28504	0.86	0.45295	D	0.998291	B;B	0.23806	0.091;0.03	B;B	0.24006	0.05;0.019	T	0.17228	-1.0376	10	0.26408	T	0.33	-19.0987	8.125	0.30992	0.6561:0.1107:0.0:0.2332	.	445;445	F8W8M9;O14795	.;UN13B_HUMAN	V	457;445;445;32	ENSP00000380006:M457V;ENSP00000367756:M445V;ENSP00000367757:M445V	ENSP00000367756:M445V	M	+	1	0	UNC13B	35365163	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.969000	0.56816	1.010000	0.39314	0.482000	0.46254	ATG		0.537	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		G	35375163	A	G	35375163	3	3	293	1	0	0	0	0	1	0	0	0	16990	101	4	3	1383	3	UNC13B	9	35375163	Missense_Mutation	SNP	A	TCGA-B9-4114-01A-01D-1252-08		35375163	105838268	40	17387											
ABL1	25	hgsc.bcm.edu	37	9	133748371	133748371	+	Silent	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr9:133748371C>T	ENST00000318560.5	+	6	1413	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	344	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGTACATGGCCACTCAGATCT	0.577			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													73	59	64					9																	133748371		2203	4300	6503	SO:0001819	synonymous_variant	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1032C>T	chr9.hg19:g.133748371C>T			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	hg19	CCDS35166.1																																																																																				0.577	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		T	133748371	C	T	133748371	2	4	293	1	0	0	0	0	0	0	0	1	92	581	21	2		2	ABL1	9	133748371	Silent	SNP	C	TCGA-B9-4114-01A-01D-1252-08	98373208	133748371	7465060	41	17388											
ARMC4	55130	hgsc.bcm.edu	37	10	28257893	28257893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr10:28257893delT	ENST00000305242.5	-	9	1289	c.1197delA	c.(1195-1197)aaafs	p.K399fs	ARMC4_ENST00000537576.1_Frame_Shift_Del_p.K91fs|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Frame_Shift_Del_p.K256fs	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	399					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATGGTCTTGGTTTTTCAAGTT	0.398																																																0													4	3	3					10																	28257893		1579	3445	5024	SO:0001589	frameshift_variant	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1197delA	chr10.hg19:g.28257893delT	ENSP00000306410:p.Lys399fs		A8K906|B7Z7I1|Q9H0C0	Frame_Shift_Del	DEL	ENST00000305242.5	hg19	CCDS7157.1																																																																																				0.398	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		-	28257893	T	-	28257893	7	5	293	1	0	1	0	1	0	0	0	0	953	1722	60	0	1985	0	ARMC4	10	28257893	Frame_Shift_Del	DEL	T	TCGA-B9-4114-01A-01D-1252-08		28257893	107276854	42	17389											
NODAL	4838	hgsc.bcm.edu	37	10	72195424	72195424	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr10:72195424T>A	ENST00000287139.3	-	2	508	c.509A>T	c.(508-510)gAg>gTg	p.E170V	AC022532.1_ENST00000420338.2_Missense_Mutation_p.L124H	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	170					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CATCTGCTTCTCCAGGGCCCC	0.602																																																0													37	37	37					10																	72195424		2203	4300	6503	SO:0001583	missense	4838			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"nodal, mouse, homolog", "nodal homolog (mouse)"			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.509A>T	chr10.hg19:g.72195424T>A	ENSP00000287139:p.Glu170Val		Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	hg19	CCDS7304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.27|14.27	2.486027|2.486027	0.44147|0.44147	.|.	.|.	ENSG00000156574|ENSG00000197604	ENST00000287139;ENST00000414871|ENST00000420338	D;D|.	0.85339|.	-1.97;-1.94|.	5.99|5.99	1.14|1.14	0.20703|0.20703	.|.	0.737242|.	0.13941|.	N|.	0.352164|.	T|T	0.39306|0.39306	0.1073|0.1073	L|L	0.56769|0.56769	1.78|1.78	0.28250|0.28250	N|N	0.925313|0.925313	B|.	0.17268|.	0.021|.	B|.	0.22880|.	0.042|.	T|T	0.46233|0.46233	-0.9206|-0.9206	10|6	0.31617|0.87932	T|D	0.26|0	.|.	1.0685|1.0685	0.01616|0.01616	0.1347:0.2379:0.2788:0.3486|0.1347:0.2379:0.2788:0.3486	.|.	170|.	Q96S42|.	NODAL_HUMAN|.	V|H	170;115|124	ENSP00000287139:E170V;ENSP00000394468:E115V|.	ENSP00000287139:E170V|ENSP00000411125:L124H	E|L	-|+	2|2	0|0	NODAL|AC022532.1	71865430|71865430	0.001000|0.001000	0.12720|0.12720	0.956000|0.956000	0.39512|0.39512	0.792000|0.792000	0.44763|0.44763	0.801000|0.801000	0.27055|0.27055	0.162000|0.162000	0.19483|0.19483	0.533000|0.533000	0.62120|0.62120	GAG|CTC		0.602	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		A	72195424	T	A	72195424	3	1	293	1	0	0	0	0	1	0	0	0	10520	1551	54	5	542	5	NODAL	10	72195424	Missense_Mutation	SNP	T	TCGA-B9-4114-01A-01D-1252-08	43937531	72195424	63339323	43	17390											
NOLC1	9221	hgsc.bcm.edu	37	10	103917239	103917239	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr10:103917239C>T	ENST00000605788.1	+	4	603	c.368C>T	c.(367-369)gCa>gTa	p.A123V	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000405356.1_Missense_Mutation_p.A123V|NOLC1_ENST00000488254.2_Missense_Mutation_p.A124V	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	123	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GCAGCCAAAGCATCAGAGAGT	0.512																																																0													68	65	66					10																	103917239		2203	4300	6503	SO:0001583	missense	9221			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.368C>T	chr10.hg19:g.103917239C>T	ENSP00000474710:p.Ala123Val		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	hg19	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978454	0.34942	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.43294	0.95	5.52	5.52	0.82312	.	0.307617	0.28589	N	0.014814	T	0.47967	0.1474	M	0.78801	2.425	0.28217	N	0.926698	P;P;P	0.42296	0.775;0.775;0.666	B;B;B	0.42282	0.382;0.382;0.212	T	0.57207	-0.7851	10	0.66056	D	0.02	-13.6615	11.8733	0.52534	0.272:0.728:0.0:0.0	.	124;123;123	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	V	123	ENSP00000385410:A123V	ENSP00000359024:A123V	A	+	2	0	NOLC1	103907229	0.977000	0.34250	0.998000	0.56505	0.422000	0.31414	2.072000	0.41510	2.620000	0.88729	0.655000	0.94253	GCA		0.512	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		T	103917239	C	T	103917239	3	4	293	1	0	0	0	0	1	0	0	0	10531	710	25	2	382	2	NOLC1	10	103917239	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	31721815	103917239	31617508	44	17391											
BRSK2	9024	hgsc.bcm.edu	37	11	1466623	1466623	+	Silent	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:1466623C>T	ENST00000528841.1	+	10	1296	c.912C>T	c.(910-912)gaC>gaT	p.D304D	BRSK2_ENST00000382179.1_Silent_p.D350D|BRSK2_ENST00000308230.5_Silent_p.D304D|BRSK2_ENST00000531197.1_Silent_p.D304D|BRSK2_ENST00000526678.1_Silent_p.D304D|BRSK2_ENST00000308219.9_Silent_p.D304D|BRSK2_ENST00000528710.1_Silent_p.D244D|BRSK2_ENST00000544817.1_5'UTR			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	304	UBA.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACGTGCTGGACAGCATGCACT	0.667																																																0													34	42	39					11																	1466623		2132	4245	6377	SO:0001819	synonymous_variant	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.912C>T	chr11.hg19:g.1466623C>T			B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	hg19	CCDS58107.1																																																																																				0.667	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		T	1466623	C	T	1466623	2	4	293	1	0	0	0	0	0	0	0	1	1526	477	17	2		2	BRSK2	11	1466623	Silent	SNP	C	TCGA-B9-4114-01A-01D-1252-08		1466623	133539893	45	17392											
EIF3M	493860	hgsc.bcm.edu	37	11	32623898	32623898	+	3'UTR	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:32623898A>T	ENST00000335185.5	-	0	3742				EIF3M_ENST00000531120.1_Missense_Mutation_p.N360Y|EIF3M_ENST00000524896.1_Missense_Mutation_p.N228Y	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTGGAAACAAAATCTGAACAA	0.328																																																0													93	93	93					11																	32623898		2202	4298	6500	SO:0001624	3_prime_UTR_variant	10480			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.*459T>A	chr11.hg19:g.32623898A>T			Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	hg19	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454889	0.63290	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000526267	T;T;T	0.51325	1.26;0.72;0.71	5.7	5.7	0.88788	.	0.042254	0.85682	D	0.000000	T	0.62889	0.2465	M	0.82056	2.57	0.80722	D	1	D;D	0.61697	0.97;0.99	P;P	0.51615	0.675;0.675	T	0.69986	-0.4996	10	0.87932	D	0	-19.1647	15.9644	0.79956	1.0:0.0:0.0:0.0	.	228;360	B4E2Q4;Q7L2H7	.;EIF3M_HUMAN	Y	360;228;213	ENSP00000436049:N360Y;ENSP00000436787:N228Y;ENSP00000432139:N213Y	ENSP00000436787:N228Y	N	+	1	0	EIF3M	32580474	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.302000	0.89953	2.172000	0.68678	0.460000	0.39030	AAT		0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		T	32623898	A	T	32623898	1	4	293	0	1	0	0	0	0	0	0	0	5025	14	1	5		5	EIF3M	11	32623898	3'UTR	SNP	A	TCGA-B9-4114-01A-01D-1252-08	31157275	32623898	102382618	46	17393											
TMX2	51075	hgsc.bcm.edu	37	11	57480106	57480106	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:57480106C>A	ENST00000278422.4	+	1	28	c.16C>A	c.(16-18)Cct>Act	p.P6T	TMX2-CTNND1_ENST00000528395.1_Missense_Mutation_p.P6T|TMX2_ENST00000378312.4_Missense_Mutation_p.P6T|MED19_ENST00000337672.2_5'Flank|MED19_ENST00000431606.2_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	6					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGTCTTGGCACCTCTAATTGC	0.592																																																0													70	57	61					11																	57480106		2201	4296	6497	SO:0001583	missense	51075			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.16C>A	chr11.hg19:g.57480106C>A	ENSP00000278422:p.Pro6Thr		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	hg19	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651806	0.67472	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T	0.53857	0.6	5.98	5.98	0.97165	.	0.128810	0.53938	U	0.000057	T	0.64349	0.2590	L	0.43152	1.355	0.58432	D	0.999993	D;D	0.67145	0.996;0.985	P;P	0.58266	0.836;0.756	T	0.63919	-0.6528	10	0.66056	D	0.02	-4.5842	20.0512	0.97629	0.0:1.0:0.0:0.0	.	6;6	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	T	6	ENSP00000367562:P6T	ENSP00000436274:P6T	P	+	1	0	TMX2	57236682	0.999000	0.42202	0.427000	0.26684	0.277000	0.26821	4.548000	0.60718	2.847000	0.97988	0.591000	0.81541	CCT		0.592	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		A	57480106	C	A	57480106	3	1	293	1	0	0	0	0	1	0	0	0	16272	507	18	4	18	4	TMX2	11	57480106	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	24856208	57480106	77526410	47	17394											
FAU	740	hgsc.bcm.edu	37	11	64889268	64889268	+	5'Flank	SNP	G	G	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:64889268G>T	ENST00000279242.2	+	0	0				MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000531743.1_Silent_p.R6R|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000529639.1_Silent_p.R6R|FAU_ENST00000525297.1_Silent_p.R6R|FAU_ENST00000279259.3_Silent_p.R6R|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000527548.1_Silent_p.R6R|FAU_ENST00000434372.2_Silent_p.R6R|FAU_ENST00000529259.1_Silent_p.R6R	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GCTCCTGGGCGCGGACAAAGA	0.532																																																0													71	64	66					11																	64889268		2201	4297	6498	SO:0001631	upstream_gene_variant	2197				CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"Mitochondrial ribosomal proteins / large subunits"	1176	protein-coding gene	gene with protein product	"neighbor of FAU", "next to FAU"	606866	"chromosome 11 open reading frame 4"	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		chr11.hg19:g.64889268G>T	Exception_encountered		B2R4G6	Silent	SNP	ENST00000279242.2	hg19	CCDS8096.1																																																																																				0.532	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		T	64889268	G	T	64889268	1	4	293	0	1	0	0	0	0	0	0	0	5696	1074	38	4		4	FAU	11	64889268	5'Flank	SNP	G	TCGA-B9-4114-01A-01D-1252-08	7409162	64889268	70117248	48	17395											
SIK2	23235	hgsc.bcm.edu	37	11	111590501	111590501	+	Silent	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:111590501C>T	ENST00000304987.3	+	10	1442	c.1269C>T	c.(1267-1269)gtC>gtT	p.V423V	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	423					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GCGTTTAGGTCAATGGCTGTC	0.517																																																0													45	30	35					11																	111590501		2201	4297	6498	SO:0001819	synonymous_variant	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1269C>T	chr11.hg19:g.111590501C>T			A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	hg19	CCDS8347.1																																																																																				0.517	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		T	111590501	C	T	111590501	2	4	293	1	0	0	0	0	0	0	0	1	14324	813	29	2		2	SIK2	11	111590501	Silent	SNP	C	TCGA-B9-4114-01A-01D-1252-08	46701233	111590501	23416015	49	17396											
OAF	220323	hgsc.bcm.edu	37	11	120097580	120097581	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:120097580_120097581AC>CA	ENST00000328965.4	+	3	935_936	c.422_423AC>CA	c.(421-423)cAC>cCA	p.H141P	OAF_ENST00000531220.1_Missense_Mutation_p.H25P	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	141						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GAGCATCTGCACATGGATGTCG	0.619																																																0																																										SO:0001583	missense	220323			BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	Exception_encountered	chr11.hg19:g.120097580_120097581delinsCA	ENSP00000332613:p.His141Pro			Missense_Mutation	SNP	ENST00000328965.4	hg19	CCDS8430.1																																																																																				0.619	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		CA	120097581	AC	CA	120097580	3	2	293	1	0	0	0	0	1	0	0	0	10800	159	6	5	432	5	OAF	11	120097580	Missense_Mutation	DNP	AC	TCGA-B9-4114-01A-01D-1252-08	8507079	120097580	14908936	50	17397											
SMARCC2	6601	hgsc.bcm.edu	37	12	56558312	56558312	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:56558312T>G	ENST00000267064.4	-	27	3429	c.3343A>C	c.(3343-3345)Aac>Cac	p.N1115H	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N1146H|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1115	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCATGCAGGTTAGGAGGAGCG	0.592																																																0													114	95	101					12																	56558312		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3343A>C	chr12.hg19:g.56558312T>G	ENSP00000267064:p.Asn1115His		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	hg19	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622273	0.46840	.	.	ENSG00000139613	ENST00000550164;ENST00000267064	T;T	0.47528	0.85;0.84	5.28	4.1	0.47936	.	1.132090	0.06439	N	0.725536	T	0.33498	0.0865	N	0.14661	0.345	0.27631	N	0.948035	B	0.09022	0.002	B	0.04013	0.001	T	0.23833	-1.0177	9	.	.	.	-9.2359	11.5054	0.50463	0.0:0.0:0.1507:0.8493	.	1115	Q8TAQ2	SMRC2_HUMAN	H	1146;1115	ENSP00000449396:N1146H;ENSP00000267064:N1115H	.	N	-	1	0	SMARCC2	54844579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.575000	0.36493	0.921000	0.36994	0.460000	0.39030	AAC		0.592	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			G	56558312	T	G	56558312	3	3	293	1	0	0	0	0	1	0	0	0	14782	1754	61	5	309	5	SMARCC2	12	56558312	Missense_Mutation	SNP	T	TCGA-B9-4114-01A-01D-1252-08		56558312	77293583	51	17398											
GLI1	2735	hgsc.bcm.edu	37	12	57861143	57861143	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:57861143C>A	ENST00000228682.2	+	9	1031	c.940C>A	c.(940-942)Cgc>Agc	p.R314S	GLI1_ENST00000546141.1_Missense_Mutation_p.R273S|GLI1_ENST00000543426.1_Missense_Mutation_p.R186S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	314					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTCATACTCACGCCTCGAAAA	0.542																																					Pancreas(157;841 1936 10503 41495 50368)											0													109	96	101					12																	57861143		2203	4300	6503	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.940C>A	chr12.hg19:g.57861143C>A	ENSP00000228682:p.Arg314Ser		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	hg19	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759669	0.89932	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.64	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000056	T	0.49098	0.1537	N	0.21448	0.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53906	-0.8372	10	0.87932	D	0	.	13.7621	0.62973	0.1541:0.8459:0.0:0.0	.	314	P08151	GLI1_HUMAN	S	186;314;273;273;186	ENSP00000437607:R186S;ENSP00000228682:R314S;ENSP00000441006:R273S;ENSP00000434408:R273S	ENSP00000228682:R314S	R	+	1	0	GLI1	56147410	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.744000	0.55112	2.575000	0.86900	0.563000	0.77884	CGC		0.542	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		A	57861143	C	A	57861143	3	1	293	1	0	0	0	0	1	0	0	0	6439	536	19	4	970	4	GLI1	12	57861143	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	1302831	57861143	75990752	52	17399											
C12orf66	144577	hgsc.bcm.edu	37	12	64615826	64615826	+	Silent	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:64615826G>C	ENST00000398055.3	-	1	245	c.192C>G	c.(190-192)gcC>gcG	p.A64A	C12orf66_ENST00000544871.1_Intron|RPS11P6_ENST00000535684.1_RNA|C12orf66_ENST00000540673.1_5'UTR|C12orf66_ENST00000311915.8_Silent_p.A64A	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	64										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGACCTTCTCGGCCGCGGCCA	0.637																																																0													26	30	29					12																	64615826		1954	4127	6081	SO:0001819	synonymous_variant	144577				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.192C>G	chr12.hg19:g.64615826G>C			C9JX54|Q8IYA0	Silent	SNP	ENST00000398055.3	hg19	CCDS41803.1																																																																																				0.637	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		C	64615826	G	C	64615826	2	2	293	1	0	0	0	0	0	0	0	1	1711	1103	39	4		4	C12orf66	12	64615826	Silent	SNP	G	TCGA-B9-4114-01A-01D-1252-08	6754683	64615826	69236069	53	17400											
MYO1H	283446	hgsc.bcm.edu	37	12	109834319	109834319	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:109834319delA	ENST00000431443.2	+	3	373	c.373delA	c.(373-375)accfs	p.T125fs	MYO1H_ENST00000310903.5_Frame_Shift_Del_p.T125fs	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	125	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTTTGCAGTGACCTGCCCAAT	0.498																																																0													71	71	71					12																	109834319		1896	4123	6019	SO:0001589	frameshift_variant	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.373delA	chr12.hg19:g.109834319delA	ENSP00000444076:p.Thr125fs		F5H3C6	Frame_Shift_Del	DEL	ENST00000431443.2	hg19																																																																																					0.498	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		-	109834319	A	-	109834319	7	5	293	1	0	1	0	1	0	0	0	0	10077	275	10	0	383	0	MYO1H	12	109834319	Frame_Shift_Del	DEL	A	TCGA-B9-4114-01A-01D-1252-08	45218493	109834319	24017576	54	17401											
PEBP1	5037	hgsc.bcm.edu	37	12	118577333	118577333	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:118577333G>A	ENST00000261313.2	+	3	675	c.323G>A	c.(322-324)gGc>gAc	p.G108D	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	108	Interaction with RAF1.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATTATGTGGGCTCGGGGCCT	0.522																																					NSCLC(44;94 1357 12187 49467)											0													123	110	115					12																	118577333		2203	4300	6503	SO:0001583	missense	5037			X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"Raf kinase inhibitory protein", "hippocampal cholinergic neurostimulating peptide"	604591	"prostatic binding protein"	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.323G>A	chr12.hg19:g.118577333G>A	ENSP00000261313:p.Gly108Asp		B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	hg19	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318256	0.95682	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.56776	0.44	5.43	5.43	0.79202	.	0.047800	0.85682	D	0.000000	D	0.82751	0.5105	H	0.96805	3.885	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.85130	0.997;0.994	D	0.88070	0.2800	10	0.59425	D	0.04	.	19.2412	0.93883	0.0:0.0:1.0:0.0	.	108;108	B4DRT4;P30086	.;PEBP1_HUMAN	D	108	ENSP00000261313:G108D	ENSP00000261313:G108D	G	+	2	0	PEBP1	117061716	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.447000	0.97595	2.543000	0.85770	0.563000	0.77884	GGC		0.522	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567		A	118577333	G	A	118577333	3	1	293	1	0	0	0	0	1	0	0	0	11715	1203	42	2	333	2	PEBP1	12	118577333	Missense_Mutation	SNP	G	TCGA-B9-4114-01A-01D-1252-08	8743014	118577333	15274562	55	17402											
ZCCHC8	55596	hgsc.bcm.edu	37	12	122964832	122964833	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:122964832_122964833insA	ENST00000336229.4	-	11	1174_1175	c.1044_1045insT	c.(1042-1047)gttggafs	p.G349fs	ZCCHC8_ENST00000538116.1_5'Flank|ZCCHC8_ENST00000543897.1_Frame_Shift_Ins_p.G111fs|ZCCHC8_ENST00000536306.1_Frame_Shift_Ins_p.G111fs	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	349					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TGTATTTCTCCAACTTCTGTTT	0.371																																																0																																										SO:0001589	frameshift_variant	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1045dupT	chr12.hg19:g.122964834_122964834dupA	ENSP00000337313:p.Gly349fs		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Frame_Shift_Ins	INS	ENST00000336229.4	hg19																																																																																					0.371	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		A	122964833	-	A	122964832	7	5	293	1	0	1	1	0	0	0	0	0	17599	603	21	0	1094	0	ZCCHC8	12	122964832	Frame_Shift_Ins	INS	-	TCGA-B9-4114-01A-01D-1252-08	4387499	122964832	10887063	56	17403											
ITM2B	9445	hgsc.bcm.edu	37	13	48830432	48830433	+	In_Frame_Ins	INS	-	-	CAA			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr13:48830432_48830433insCAA	ENST00000378565.5	+	3	569_570	c.366_367insCAA	c.(367-369)gaa>CAAgaa	p.122_123insQ	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	122	Necessary for interaction with APP and inhibitor effects on APP processing.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TTAAAATCTTTGAAGAAGAAGA	0.401																																																0																																										SO:0001652	inframe_insertion	9445			AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"BRICHOS domain containing"	6174	protein-coding gene	gene with protein product	"BRICHOS domain containing 2B"	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	Exception_encountered	chr13.hg19:g.48830432_48830433insCAA	ENSP00000367828:p.Phe122_Glu123insGln		Q5W0A3|Q96B24|Q9NYH1	In_Frame_Ins	INS	ENST00000378565.5	hg19	CCDS9409.1																																																																																				0.401	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999		CAA	48830433	-	CAA	48830432	7	5	293	1	0	1	1	0	0	0	0	0	7915	1809	63	0	376	0	ITM2B	13	48830432	In_Frame_Ins	INS	-	TCGA-B9-4114-01A-01D-1252-08		48830432	66339446	57	17404											
RNF31	55072	hgsc.bcm.edu	37	14	24617213	24617213	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:24617213C>G	ENST00000324103.6	+	2	541	c.221C>G	c.(220-222)aCg>aGg	p.T74R	RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000382687.3_5'Flank|PSME2_ENST00000216802.5_5'Flank|PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	74	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCCTGTCCACGGCTCTGAAC	0.607																																																0													80	85	83					14																	24617213		2063	4198	6261	SO:0001583	missense	55072			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.221C>G	chr14.hg19:g.24617213C>G	ENSP00000315112:p.Thr74Arg		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	hg19	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498171	0.85069	.	.	ENSG00000092098	ENST00000324103	T	0.47869	0.83	5.31	5.31	0.75309	PUB domain (1);	0.130527	0.51477	D	0.000093	T	0.61135	0.2323	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.55730	-0.8095	9	.	.	.	-13.9514	17.9131	0.88940	0.0:1.0:0.0:0.0	.	74	Q96EP0	RNF31_HUMAN	R	74	ENSP00000315112:T74R	.	T	+	2	0	RNF31	23687053	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.011000	0.64011	2.779000	0.95612	0.655000	0.94253	ACG		0.607	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		G	24617213	C	G	24617213	3	3	293	1	0	0	0	0	1	0	0	0	13493	536	19	4	227	4	RNF31	14	24617213	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08		24617213	82732327	58	17405											
KIAA0391	9692	hgsc.bcm.edu	37	14	35593087	35593087	+	Silent	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:35593087T>C	ENST00000557565.1	+	2	1017	c.636T>C	c.(634-636)ggT>ggC	p.G212G	PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000604948.1_Silent_p.G117G|KIAA0391_ENST00000534898.4_Silent_p.G212G|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.G212G|KIAA0391_ENST00000321130.10_Silent_p.G212G|KIAA0391_ENST00000250377.7_Silent_p.G117G	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	212					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AACCTAGAGGTTACAGTCTTC	0.358																																																0													49	50	49					14																	35593087		2203	4300	6503	SO:0001819	synonymous_variant	9692			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.636T>C	chr14.hg19:g.35593087T>C			B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	hg19	CCDS32063.1																																																																																				0.358	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		C	35593087	T	C	35593087	2	2	293	1	0	0	0	0	0	0	0	1	8174	1712	60	3		3	KIAA0391	14	35593087	Silent	SNP	T	TCGA-B9-4114-01A-01D-1252-08	10975874	35593087	71756453	59	17406											
FAM179B	23116	hgsc.bcm.edu	37	14	45433529	45433529	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:45433529delC	ENST00000361577.3	+	1	2119	c.1905delC	c.(1903-1905)cacfs	p.H635fs	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Frame_Shift_Del_p.H635fs|FAM179B_ENST00000361462.2_Frame_Shift_Del_p.H635fs|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	635										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATAGCATGCACATTTATGGAT	0.453																																																0													98	86	90					14																	45433529		2203	4300	6503	SO:0001589	frameshift_variant	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1905delC	chr14.hg19:g.45433529delC	ENSP00000355045:p.His635fs		Q68D66|Q6PG27	Frame_Shift_Del	DEL	ENST00000361577.3	hg19	CCDS9681.1																																																																																				0.453	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		-	45433529	C	-	45433529	7	5	293	1	0	1	0	1	0	0	0	0	5508	477	17	0	1907	0	FAM179B	14	45433529	Frame_Shift_Del	DEL	C	TCGA-B9-4114-01A-01D-1252-08	9840442	45433529	61916011	60	17407											
SERPINA1	5265	hgsc.bcm.edu	37	14	94849213	94849213	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:94849213T>G	ENST00000448921.1	-	4	934	c.362A>C	c.(361-363)cAg>cCg	p.Q121P	SERPINA1_ENST00000449399.3_Missense_Mutation_p.Q121P|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Q121P|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Q121P|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Q121P|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Q121P|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Q121P|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Q121P|SERPINA1_ENST00000402629.1_Missense_Mutation_p.Q121P|SERPINA1_ENST00000555289.1_5'Flank	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	121					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GAGGAGTTCCTGGAAGCCTTC	0.572																																																0													57	56	57					14																	94849213		2203	4300	6503	SO:0001583	missense	5265			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.362A>C	chr14.hg19:g.94849213T>G	ENSP00000416066:p.Gln121Pro		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	hg19	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629267	0.46944	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000554720;ENST00000556091;ENST00000557492	D;D;D;D;D;D;D;D;D;T;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-0.96;-1.72;-1.72	5.8	-0.59	0.11679	Serpin domain (3);	0.589490	0.16883	N	0.195601	D	0.91472	0.7308	M	0.90082	3.085	0.21020	N	0.999801	B;B	0.25486	0.127;0.091	B;B	0.41946	0.136;0.371	D	0.87168	0.2219	10	0.72032	D	0.01	.	7.1129	0.25401	0.0:0.3182:0.1125:0.5693	.	121;121	P01009-2;P01009	.;A1AT_HUMAN	P	121;121;121;121;121;121;121;121;121;35;121;121	ENSP00000390299:Q121P;ENSP00000416066:Q121P;ENSP00000408474:Q121P;ENSP00000348068:Q121P;ENSP00000376802:Q121P;ENSP00000376803:Q121P;ENSP00000385960:Q121P;ENSP00000416354:Q121P;ENSP00000386094:Q121P;ENSP00000450561:Q35P;ENSP00000452169:Q121P;ENSP00000452452:Q121P	ENSP00000348068:Q121P	Q	-	2	0	SERPINA1	93918966	0.002000	0.14202	0.075000	0.20258	0.907000	0.53573	-0.082000	0.11304	-0.099000	0.12263	-0.379000	0.06801	CAG		0.572	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		G	94849213	T	G	94849213	3	3	293	1	0	0	0	0	1	0	0	0	14092	1580	55	5	910	5	SERPINA1	14	94849213	Missense_Mutation	SNP	T	TCGA-B9-4114-01A-01D-1252-08	49415684	94849213	12500327	61	17408											
WDR20	91833	hgsc.bcm.edu	37	14	102675938	102675938	+	Silent	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:102675938T>C	ENST00000342702.3	+	3	1462	c.1431T>C	c.(1429-1431)gaT>gaC	p.D477D	WDR20_ENST00000335263.5_Silent_p.D477D|WDR20_ENST00000499851.2_Silent_p.D220D|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Silent_p.D416D|WDR20_ENST00000454394.2_Silent_p.D508D|WDR20_ENST00000545563.1_Silent_p.D304D|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Silent_p.D416D|WDR20_ENST00000424963.2_Silent_p.D353D	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	477										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ACGAGAAAGATCACAAGCGAA	0.473											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													114	105	108					14																	102675938		2203	4300	6503	SO:0001819	synonymous_variant	91833			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"WD repeat domain containing"	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1431T>C	chr14.hg19:g.102675938T>C		1368	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	ENST00000342702.3	hg19	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	T	3.721	-0.057478	0.07317	.	.	ENSG00000140153	ENST00000556511	.	.	.	5.73	-3.12	0.05282	.	.	.	.	.	T	0.63604	0.2525	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63093	-0.6714	4	.	.	.	.	14.198	0.65684	0.0:0.4331:0.0:0.5669	.	.	.	.	P	408	.	.	S	+	1	0	WDR20	101745691	0.985000	0.35326	0.982000	0.44146	0.999000	0.98932	0.241000	0.18065	-0.454000	0.07066	0.533000	0.62120	TCA		0.473	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		C	102675938	T	C	102675938	2	2	293	1	0	0	0	0	0	0	0	1	17285	1432	50	3		3	WDR20	14	102675938	Silent	SNP	T	TCGA-B9-4114-01A-01D-1252-08	7826725	102675938	4673602	62	17409											
PLCB2	5330	hgsc.bcm.edu	37	15	40590557	40590557	+	Missense_Mutation	SNP	G	G	A	rs201305253	byFrequency	TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:40590557G>A	ENST00000260402.3	-	11	1271	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	PLCB2_ENST00000456256.2_Missense_Mutation_p.S341L|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.S341L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	341	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CATCTCAGCCGAGGAGAGGCC	0.627													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20598	0.0		0.0	False		,,,				2504	0.001															0													33	36	35					15																	40590557		2082	4236	6318	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1022C>T	chr15.hg19:g.40590557G>A	ENSP00000260402:p.Ser341Leu		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	hg19	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183791	0.94885	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.59772	0.24;0.24	4.38	4.38	0.52667	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.136952	0.50627	D	0.000108	D	0.83151	0.5192	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.952;0.997	D	0.88893	0.3347	10	0.87932	D	0	.	17.4798	0.87670	0.0:0.0:1.0:0.0	.	341;341;341	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	L	341	ENSP00000260402:S341L;ENSP00000411991:S341L	ENSP00000260402:S341L	S	-	2	0	PLCB2	38377849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.438000	0.82558	0.563000	0.77884	TCG		0.627	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			A	40590557	G	A	40590557	3	1	293	1	0	0	0	0	1	0	0	0	12030	1059	37	1	2623	1	PLCB2	15	40590557	Missense_Mutation	SNP	G	TCGA-B9-4114-01A-01D-1252-08		40590557	61940835	63	17410											
ANKDD1A	348094	hgsc.bcm.edu	37	15	65239709	65239709	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:65239709G>T	ENST00000380230.3	+	13	1276	c.1247G>T	c.(1246-1248)tGg>tTg	p.W416L	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.W416L|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.W384L|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.W293L	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	416	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TCTGTGCTGTGGCGGCTGGCC	0.597																																																0													45	40	42					15																	65239709		2202	4299	6501	SO:0001583	missense	348094				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1247G>T	chr15.hg19:g.65239709G>T	ENSP00000369579:p.Trp416Leu		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	hg19	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469077	0.84533	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.63	4.63	0.57726	Death (1);DEATH-like (1);	0.000000	0.64402	D	0.000017	D	0.85758	0.5771	M	0.78637	2.42	0.80722	D	1	P	0.45283	0.855	P	0.48524	0.58	D	0.83545	0.0098	10	0.16420	T	0.52	-16.8697	16.2408	0.82408	0.0:0.0:1.0:0.0	.	416	Q495B1	AKD1A_HUMAN	L	416;384;416;293	ENSP00000369579:W416L;ENSP00000350329:W384L;ENSP00000379070:W416L;ENSP00000379073:W293L	ENSP00000350329:W384L	W	+	2	0	ANKDD1A	63026762	1.000000	0.71417	0.995000	0.50966	0.848000	0.48234	9.170000	0.94795	2.423000	0.82170	0.655000	0.94253	TGG		0.597	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		T	65239709	G	T	65239709	3	4	293	1	0	0	0	0	1	0	0	0	624	1357	47	4	1297	4	ANKDD1A	15	65239709	Missense_Mutation	SNP	G	TCGA-B9-4114-01A-01D-1252-08	24649152	65239709	37291683	64	17411											
ISLR2	57611	hgsc.bcm.edu	37	15	74425252	74425252	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:74425252delG	ENST00000361742.3	+	4	926	c.157delG	c.(157-159)gtgfs	p.V53fs	ISLR2_ENST00000435464.1_Frame_Shift_Del_p.V53fs|ISLR2_ENST00000565159.1_Frame_Shift_Del_p.V53fs|ISLR2_ENST00000453268.2_Frame_Shift_Del_p.V53fs|ISLR2_ENST00000419208.1_Frame_Shift_Del_p.V53fs|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Frame_Shift_Del_p.V53fs|ISLR2_ENST00000565540.1_Frame_Shift_Del_p.V53fs	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	53					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCTGCCAACGTGACGACGCT	0.632																																																0													82	68	73					15																	74425252		2198	4297	6495	SO:0001589	frameshift_variant	57611				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.157delG	chr15.hg19:g.74425252delG	ENSP00000355402:p.Val53fs		A8K352|Q9P263	Frame_Shift_Del	DEL	ENST00000361742.3	hg19	CCDS10259.1																																																																																				0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		-	74425252	G	-	74425252	7	5	293	1	0	1	0	1	0	0	0	0	7861	1145	40	0	159	0	ISLR2	15	74425252	Frame_Shift_Del	DEL	G	TCGA-B9-4114-01A-01D-1252-08	9185543	74425252	28106140	65	17412											
FAM154B	283726	hgsc.bcm.edu	37	15	82574679	82574679	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:82574679A>C	ENST00000339465.5	+	3	542	c.473A>C	c.(472-474)cAt>cCt	p.H158P	FAM154B_ENST00000427381.2_Missense_Mutation_p.H143P|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	158										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TATATACCTCATCAGCTTGAA	0.433																																																0													112	111	111					15																	82574679		2203	4300	6503	SO:0001583	missense	283726			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.473A>C	chr15.hg19:g.82574679A>C	ENSP00000340445:p.His158Pro		B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	hg19	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760509	0.69763	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.14391	2.51;2.51	3.9	3.9	0.45041	.	0.144157	0.45126	D	0.000381	T	0.35219	0.0924	M	0.77103	2.36	0.51012	D	0.999907	D;D	0.67145	0.996;0.992	D;D	0.69824	0.966;0.953	T	0.12142	-1.0559	10	0.37606	T	0.19	-13.415	13.1531	0.59500	1.0:0.0:0.0:0.0	.	143;158	B4E2M2;Q658L1	.;F154B_HUMAN	P	158;143	ENSP00000340445:H158P;ENSP00000403743:H143P	ENSP00000340445:H158P	H	+	2	0	FAM154B	80361734	0.998000	0.40836	0.633000	0.29310	0.980000	0.70556	4.775000	0.62346	1.751000	0.51876	0.438000	0.28831	CAT		0.433	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		C	82574679	A	C	82574679	3	2	293	1	0	0	0	0	1	0	0	0	5466	217	8	5	483	5	FAM154B	15	82574679	Missense_Mutation	SNP	A	TCGA-B9-4114-01A-01D-1252-08	8149427	82574679	19956713	66	17413											
LINS1	55180	hgsc.bcm.edu	37	15	101114034	101114034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:101114034delC	ENST00000314742.8	-	5	1266	c.1044delG	c.(1042-1044)gggfs	p.G348fs	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Frame_Shift_Del_p.G348fs|LINS_ENST00000560133.1_Frame_Shift_Del_p.G229fs	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	348										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCTTCAACAACCCCGAATTCA	0.448																																																0										0,4264		0,0,2132	146	133	137			2.5	0.1	15		137	2,8252		0,2,4125	no	frameshift	LINS	NM_001040616.2		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016			101114034	2,12516	2203	4300	6503	SO:0001589	frameshift_variant	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1044delG	chr15.hg19:g.101114034delC	ENSP00000318423:p.Gly348fs		Q96FW2|Q9NVQ3	Frame_Shift_Del	DEL	ENST00000314742.8	hg19	CCDS10385.1																																																																																				0.448	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		-	101114034	C	-	101114034	7	5	293	1	0	1	0	1	0	0	0	0	8820	494	18	0	1241	0	LINS1	15	101114034	Frame_Shift_Del	DEL	C	TCGA-B9-4114-01A-01D-1252-08	18539355	101114034	1417358	67	17414											
PALB2	79728	hgsc.bcm.edu	37	16	23646407	23646407	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr16:23646407A>T	ENST00000261584.4	-	4	1612	c.1460T>A	c.(1459-1461)gTc>gAc	p.V487D		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	487	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GGGAGAGCTGACTTTAGTTAA	0.458			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0													131	131	131					16																	23646407		2197	4300	6497	SO:0001583	missense	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1460T>A	chr16.hg19:g.23646407A>T	ENSP00000261584:p.Val487Asp		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	hg19	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.479867	0.26511	.	.	ENSG00000083093	ENST00000261584	T	0.15603	2.41	5.67	1.89	0.25635	.	0.327339	0.25935	N	0.027358	T	0.28267	0.0698	M	0.63428	1.95	0.19775	N	0.999954	D	0.67145	0.996	P	0.62298	0.9	T	0.04693	-1.0933	10	0.59425	D	0.04	-1.5018	4.5066	0.11891	0.6154:0.2179:0.1667:0.0	.	487	Q86YC2	PALB2_HUMAN	D	487	ENSP00000261584:V487D	ENSP00000261584:V487D	V	-	2	0	PALB2	23553908	0.059000	0.20769	0.013000	0.15412	0.188000	0.23474	1.278000	0.33179	0.529000	0.28599	0.533000	0.62120	GTC		0.458	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		T	23646407	A	T	23646407	3	4	293	1	0	0	0	0	1	0	0	0	11408	275	10	5	2140	5	PALB2	16	23646407	Missense_Mutation	SNP	A	TCGA-B9-4114-01A-01D-1252-08		23646407	66708346	68	17415											
CYB5D1	124637	hgsc.bcm.edu	37	17	7762716	7762716	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:7762716C>T	ENST00000332439.4	+	4	625	c.473C>T	c.(472-474)tCc>tTc	p.S158F	LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000575208.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank|CYB5D1_ENST00000571846.1_Intron|CYB5D1_ENST00000570446.1_Missense_Mutation_p.S30F|LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	158							heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				GTTCTGGAGTCCATATGGGAA	0.502																																																0													47	45	46					17																	7762716		2203	4300	6503	SO:0001583	missense	124637			AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.473C>T	chr17.hg19:g.7762716C>T	ENSP00000331479:p.Ser158Phe		D3DTQ8|Q96DM7	Missense_Mutation	SNP	ENST00000332439.4	hg19	CCDS11123.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968751	0.74131	.	.	ENSG00000182224	ENST00000332439	T	0.45668	0.89	5.27	5.27	0.74061	.	0.155423	0.42821	D	0.000659	T	0.40372	0.1114	M	0.64997	1.995	0.50467	D	0.999875	B	0.31910	0.346	B	0.26864	0.074	T	0.42447	-0.9451	10	0.72032	D	0.01	-23.6807	13.3117	0.60384	0.1589:0.841:0.0:0.0	.	158	Q6P9G0	CB5D1_HUMAN	F	158	ENSP00000331479:S158F	ENSP00000331479:S158F	S	+	2	0	CYB5D1	7703441	0.999000	0.42202	0.979000	0.43373	0.882000	0.50991	4.339000	0.59322	2.449000	0.82847	0.462000	0.41574	TCC		0.502	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440841.1	NM_144607		T	7762716	C	T	7762716	3	4	293	1	0	0	0	0	1	0	0	0	4126	855	30	2	487	2	CYB5D1	17	7762716	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08		7762716	73432494	69	17416											
ERBB2	2064	hgsc.bcm.edu	37	17	37876080	37876080	+	Silent	SNP	A	A	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:37876080A>C	ENST00000269571.5	+	16	2098	c.1939A>C	c.(1939-1941)Aga>Cga	p.R647R	ERBB2_ENST00000584450.1_Silent_p.R647R|ERBB2_ENST00000584601.1_Silent_p.R617R|ERBB2_ENST00000406381.2_Silent_p.R617R|ERBB2_ENST00000540147.1_Silent_p.R617R|ERBB2_ENST00000541774.1_Silent_p.R632R|ERBB2_ENST00000445658.2_Silent_p.R371R			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	647					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CGCCGAGCAGAGAGCCAGGTT	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													153	131	138					17																	37876080		2203	4300	6503	SO:0001819	synonymous_variant	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1939A>C	chr17.hg19:g.37876080A>C			B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	hg19	CCDS32642.1																																																																																				0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			C	37876080	A	C	37876080	2	2	293	1	0	0	0	0	0	0	0	1	5208	296	11	5		5	ERBB2	17	37876080	Silent	SNP	A	TCGA-B9-4114-01A-01D-1252-08	30113364	37876080	43319130	70	17417											
ATXN7L3	56970	hgsc.bcm.edu	37	17	42275086	42275086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:42275086C>A	ENST00000454077.2	-	2	63	c.64G>T	c.(64-66)Gag>Tag	p.E22*	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Nonsense_Mutation_p.E22*|CTB-175E5.7_ENST00000586560.1_RNA	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGTATATCTCCTGAGCGATG	0.577																																																0													96	95	96					17																	42275086		1985	4163	6148	SO:0001587	stop_gained	56970			AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.64G>T	chr17.hg19:g.42275086C>A	ENSP00000397259:p.Glu22*			Nonsense_Mutation	SNP	ENST00000454077.2	hg19	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456493	0.63401	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.47	4.47	0.54385	.	0.064498	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	14.0541	0.64756	0.0:1.0:0.0:0.0	.	.	.	.	X	22	.	ENSP00000374035:E22X	E	-	1	0	ATXN7L3	39630612	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	7.490000	0.81461	2.010000	0.58986	0.655000	0.94253	GAG		0.577	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			A	42275086	C	A	42275086	4	1	293	1	0	0	0	0	0	1	0	0	1218	864	30	4	1044	4	ATXN7L3	17	42275086	Nonsense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	4399006	42275086	38920124	71	17418											
ABCA6	23460	hgsc.bcm.edu	37	17	67108373	67108373	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:67108373C>T	ENST00000284425.2	-	16	2257	c.2083G>A	c.(2083-2085)Ggt>Agt	p.G695S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	695	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAGAAGAACCTGCACACTTC	0.368																																																0													156	164	162					17																	67108373		2203	4300	6503	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2083G>A	chr17.hg19:g.67108373C>T	ENSP00000284425:p.Gly695Ser		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	hg19	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599754	0.87055	.	.	ENSG00000154262	ENST00000284425	T	0.80393	-1.37	4.65	4.65	0.58169	ABC transporter-like (1);	0.116516	0.38058	N	0.001826	D	0.94308	0.8171	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96675	0.9499	10	0.87932	D	0	.	17.0385	0.86483	0.0:1.0:0.0:0.0	.	695	Q8N139	ABCA6_HUMAN	S	695	ENSP00000284425:G695S	ENSP00000284425:G695S	G	-	1	0	ABCA6	64619968	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	6.512000	0.73737	2.568000	0.86640	0.655000	0.94253	GGT		0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		T	67108373	C	T	67108373	3	4	293	1	0	0	0	0	1	0	0	0	36	681	24	2	2866	2	ABCA6	17	67108373	Missense_Mutation	SNP	C	TCGA-B9-4114-01A-01D-1252-08	24833287	67108373	14086837	72	17419											
SPHK1	8877	hgsc.bcm.edu	37	17	74382029	74382029	+	Intron	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:74382029G>A	ENST00000545180.1	+	5	819				SPHK1_ENST00000323374.4_Intron|SPHK1_ENST00000392496.3_Intron|SPHK1_ENST00000592299.1_Intron|SPHK1_ENST00000590959.1_Missense_Mutation_p.G6S			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1						'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CCTAGTGGTCGGTTGCGGACG	0.667											OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(90;966 1307 27369 33775 44498)											0													23	24	24					17																	74382029		1923	4109	6032	SO:0001627	intron_variant	8877			BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.11-37G>A	chr17.hg19:g.74382029G>A		1152	Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Missense_Mutation	SNP	ENST00000545180.1	hg19	CCDS45785.1																																																																																				0.667	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		A	74382029	G	A	74382029	1	1	293	0	1	0	0	0	0	0	0	0	15051	1116	39	1		1	SPHK1	17	74382029	Intron	SNP	G	TCGA-B9-4114-01A-01D-1252-08	7273656	74382029	6813181	73	17420											
PRKCSH	5589	hgsc.bcm.edu	37	19	11558373	11558373	+	Silent	SNP	A	A	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr19:11558373A>G	ENST00000589838.1	+	10	969	c.969A>G	c.(967-969)gaA>gaG	p.E323E	PRKCSH_ENST00000412601.1_Silent_p.E323E|PRKCSH_ENST00000591462.1_Silent_p.E323E|PRKCSH_ENST00000587327.1_Silent_p.E323E|PRKCSH_ENST00000592741.1_Silent_p.E323E|PRKCSH_ENST00000252455.2_Silent_p.E323E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	323	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaagaagaggctg	0.642																																																0																																										SO:0001819	synonymous_variant	5589				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.969A>G	chr19.hg19:g.11558373A>G			A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	hg19	CCDS32911.1																																																																																				0.642	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			G	11558373	A	G	11558373	2	3	293	1	0	0	0	0	0	0	0	1	12521	69	3	3		3	PRKCSH	19	11558373	Silent	SNP	A	TCGA-B9-4114-01A-01D-1252-08		11558373	47570610	74	17421											
ATP4A	495	hgsc.bcm.edu	37	19	36050918	36050918	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr19:36050918G>T	ENST00000262623.3	-	7	873	c.845C>A	c.(844-846)gCa>gAa	p.A282E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	282					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCAGCGATGCGATGCGCCC	0.647																																																0													96	73	81					19																	36050918		2203	4300	6503	SO:0001583	missense	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.845C>A	chr19.hg19:g.36050918G>T	ENSP00000262623:p.Ala282Glu		O00738	Missense_Mutation	SNP	ENST00000262623.3	hg19	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140434	0.56936	.	.	ENSG00000105675	ENST00000262623	D	0.92495	-3.05	3.94	3.94	0.45596	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.077790	0.48767	D	0.000178	D	0.96324	0.8801	M	0.91920	3.255	0.80722	D	1	D	0.57899	0.981	D	0.66196	0.942	D	0.97050	0.9763	10	0.87932	D	0	.	13.8309	0.63380	0.0:0.0:1.0:0.0	.	282	P20648	ATP4A_HUMAN	E	282	ENSP00000262623:A282E	ENSP00000262623:A282E	A	-	2	0	ATP4A	40742758	1.000000	0.71417	0.276000	0.24689	0.038000	0.13279	9.600000	0.98282	2.203000	0.70933	0.561000	0.74099	GCA		0.647	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		T	36050918	G	T	36050918	3	4	293	1	0	0	0	0	1	0	0	0	1145	1319	46	4	2326	4	ATP4A	19	36050918	Missense_Mutation	SNP	G	TCGA-B9-4114-01A-01D-1252-08	24492545	36050918	23078065	75	17422											
UBOX5	22888	hgsc.bcm.edu	37	20	3090943	3090943	+	Silent	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr20:3090943G>A	ENST00000217173.2	-	5	1906	c.1435C>T	c.(1435-1437)Ctg>Ttg	p.L479L	UBOX5_ENST00000348031.2_Silent_p.L425L|UBOX5-AS1_ENST00000454019.1_RNA|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TCGGGGCCCAGGATGCTCCCA	0.587																																																0													60	69	66					20																	3090943		2203	4300	6503	SO:0001819	synonymous_variant	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1435C>T	chr20.hg19:g.3090943G>A				Missense_Mutation	SNP	ENST00000217173.2	hg19	CCDS13046.1																																																																																				0.587	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		A	3090943	G	A	3090943	2	1	293	1	0	0	0	0	0	0	0	1	16899	991	35	2		2	UBOX5	20	3090943	Silent	SNP	G	TCGA-B9-4114-01A-01D-1252-08		3090943	59934577	76	17423											
ZSWIM1	90204	hgsc.bcm.edu	37	20	44512145	44512145	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr20:44512145A>T	ENST00000372523.1	+	2	1009	c.914A>T	c.(913-915)aAt>aTt	p.N305I	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.N305I	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	305						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GCCCAGAACAATCATGCTCCC	0.542																																																0													106	100	102					20																	44512145		2203	4300	6503	SO:0001583	missense	90204			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"Zinc fingers, SWIM-type"	16155	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 162"	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.914A>T	chr20.hg19:g.44512145A>T	ENSP00000361601:p.Asn305Ile		Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	hg19	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	A	1.890	-0.455649	0.04540	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.23754	1.89;1.89	5.03	-5.13	0.02884	.	1.279150	0.05647	U	0.584537	T	0.15565	0.0375	N	0.19112	0.55	0.09310	N	1	B	0.33379	0.41	B	0.29440	0.102	T	0.20538	-1.0272	10	0.37606	T	0.19	-6.9614	13.0392	0.58889	0.2965:0.0964:0.607:0.0	.	305	Q9BR11	ZSWM1_HUMAN	I	305	ENSP00000361601:N305I;ENSP00000361598:N305I	ENSP00000361598:N305I	N	+	2	0	ZSWIM1	43945552	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-3.302000	0.00520	-0.994000	0.03463	-0.256000	0.11100	AAT		0.542	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		T	44512145	A	T	44512145	3	4	293	1	0	0	0	0	1	0	0	0	18245	101	4	5	916	5	ZSWIM1	20	44512145	Missense_Mutation	SNP	A	TCGA-B9-4114-01A-01D-1252-08	41421202	44512145	18513375	77	17424											
GRAMD4	23151	hgsc.bcm.edu	37	22	47068788	47068788	+	Missense_Mutation	SNP	G	G	A	rs371794625		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr22:47068788G>A	ENST00000406902.1	+	14	1346	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	GRAMD4_ENST00000361034.3_Missense_Mutation_p.R378H|GRAMD4_ENST00000408031.1_5'Flank			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	378					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ATCTTTAAACGCTGCCCGAGG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16350	0.0		0.0	False		,,,				2504	0.0															0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	71	68	69		1133	4.6	1	22		69	0,8600		0,0,4300	no	missense	GRAMD4	NM_015124.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	378/579	47068788	1,13005	2203	4300	6503	SO:0001583	missense	23151				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1133G>A	chr22.hg19:g.47068788G>A	ENSP00000385689:p.Arg378His		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	hg19	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	g	29.5	5.010183	0.93346	2.27E-4	0.0	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.45276	0.9;0.9	4.63	4.63	0.57726	.	0.079168	0.49916	D	0.000133	T	0.51466	0.1676	L	0.48642	1.525	0.53688	D	0.99997	D	0.71674	0.998	P	0.56216	0.794	T	0.56177	-0.8022	10	0.87932	D	0	-22.1761	15.3516	0.74393	0.0:0.0:1.0:0.0	.	378	Q6IC98	GRAM4_HUMAN	H	378	ENSP00000385689:R378H;ENSP00000354313:R378H	ENSP00000354313:R378H	R	+	2	0	GRAMD4	45447452	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.900000	0.92551	2.294000	0.77228	0.563000	0.77884	CGC		0.577	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		A	47068788	G	A	47068788	3	1	293	1	0	0	0	0	1	0	0	0	6754	1087	38	1	1183	1	GRAMD4	22	47068788	Missense_Mutation	SNP	G	TCGA-B9-4114-01A-01D-1252-08		47068788	4235778	78	17425											
TBL1X	6907	hgsc.bcm.edu	37	X	9652170	9652170	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chrX:9652170T>C	ENST00000217964.7	+	6	939	c.299T>C	c.(298-300)cTc>cCc	p.L100P	TBL1X_ENST00000424279.1_Missense_Mutation_p.L49P|TBL1X_ENST00000407597.2_Missense_Mutation_p.L100P|TBL1X_ENST00000536365.1_Missense_Mutation_p.L49P|TBL1X_ENST00000380961.1_Missense_Mutation_p.L49P	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	100	F-box-like.				canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CCGGCCGCCCTCATCTCCATT	0.582																																																0													94	71	79					X																	9652170		2203	4300	6503	SO:0001583	missense	6907			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.299T>C	chrX.hg19:g.9652170T>C	ENSP00000217964:p.Leu100Pro		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	hg19	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.774447	0.70107	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000415293;ENST00000217964	D;D;D;D;D	0.88896	-2.44;-2.11;-2.11;-2.11;-2.44	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000001	D	0.95217	0.8449	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95982	0.8978	10	0.87932	D	0	.	13.2538	0.60066	0.0:0.0:0.0:1.0	.	63;100	Q59F53;O60907	.;TBL1X_HUMAN	P	100;49;49;49;49;100	ENSP00000385988:L100P;ENSP00000394097:L49P;ENSP00000445317:L49P;ENSP00000370348:L49P;ENSP00000217964:L100P	ENSP00000217964:L100P	L	+	2	0	TBL1X	9612170	1.000000	0.71417	0.987000	0.45799	0.486000	0.33341	7.492000	0.81482	1.570000	0.49709	0.437000	0.28790	CTC		0.582	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		C	9652170	T	C	9652170	3	2	293	1	0	0	0	0	1	0	0	0	15644	1551	54	3	309	3	TBL1X	23	9652170	Missense_Mutation	SNP	T	TCGA-B9-4114-01A-01D-1252-08		9652170	145618390	79	17426											
PIGV	55650	hgsc.bcm.edu	37	1	27121059	27121059	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:27121059C>T	ENST00000374145.1	+	3	1216	c.534C>T	c.(532-534)ttC>ttT	p.F178F	PIGV_ENST00000449950.2_Intron|PIGV_ENST00000078527.4_Silent_p.F178F	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	178					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TCCTGACATTCAGTGCCATGG	0.562																																																0													79	78	78					1																	27121059		2203	4300	6503	SO:0001819	synonymous_variant	55650			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	26031	protein-coding gene	gene with protein product	"GPI mannosyltransferase 2", "dol-P-Man dependent GPI mannosyltransferase"	610274	"phosphatidylinositol glycan, class V"			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.534C>T	chr1.hg19:g.27121059C>T			D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Silent	SNP	ENST00000374145.1	hg19	CCDS287.1																																																																																				0.562	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837		T	27121059	C	T	27121059	2	4	294	1	0	0	0	0	0	0	0	1	11903	825	29	2		2	PIGV	1	27121059	Silent	SNP	C	TCGA-B9-4115-01A-01D-1252-08		27121059	222129562	1	17427											
SLC9A1	6548	hgsc.bcm.edu	37	1	27428600	27428600	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:27428600C>T	ENST00000263980.3	-	9	2417	c.1842G>A	c.(1840-1842)ctG>ctA	p.L614L	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Silent_p.L275L	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	614					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCTCGGAAGGCAGGGACTTGG	0.582																																																0													136	126	129					1																	27428600		2203	4300	6503	SO:0001819	synonymous_variant	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1842G>A	chr1.hg19:g.27428600C>T			B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	hg19	CCDS295.1																																																																																				0.582	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		T	27428600	C	T	27428600	2	4	294	1	0	0	0	0	0	0	0	1	14715	697	25	2		2	SLC9A1	1	27428600	Silent	SNP	C	TCGA-B9-4115-01A-01D-1252-08	307541	27428600	221822021	2	17428											
MACF1	23499	hgsc.bcm.edu	37	1	39907695	39907695	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:39907695T>G	ENST00000372915.3	+	74	18528	c.18441T>G	c.(18439-18441)aaT>aaG	p.N6147K	MACF1_ENST00000289893.4_Missense_Mutation_p.N4691K|MACF1_ENST00000361689.2_Missense_Mutation_p.N4189K|MACF1_ENST00000539005.1_Missense_Mutation_p.N4059K|MACF1_ENST00000317713.7_Missense_Mutation_p.N4189K|MACF1_ENST00000567887.1_Missense_Mutation_p.N6285K|MACF1_ENST00000564288.1_Missense_Mutation_p.N6248K|MACF1_ENST00000545844.1_Missense_Mutation_p.N4189K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6147					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGACCTCAATACTGTTAAAG	0.353																																																0													118	110	113					1																	39907695		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18441T>G	chr1.hg19:g.39907695T>G	ENSP00000362006:p.Asn6147Lys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.72|16.72	3.201648|3.201648	0.58234|0.58234	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8;0.8;0.8|.	5.62|5.62	4.71|4.71	0.59529|0.59529	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.33990|0.33990	0.0882|0.0882	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;P|.	0.55605|.	0.972;0.843|.	P;P|.	0.55455|.	0.776;0.62|.	T|T	0.14727|0.14727	-1.0462|-1.0462	10|5	0.32370|.	T|.	0.25|.	.|.	9.9927|9.9927	0.41881|0.41881	0.0:0.8446:0.0:0.1554|0.0:0.8446:0.0:0.1554	.|.	6147;4189|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	K|D	4189;6147;4189;4189;4059;4691|3193	ENSP00000439537:N4189K;ENSP00000362006:N6147K;ENSP00000354573:N4189K;ENSP00000313438:N4189K;ENSP00000444364:N4059K;ENSP00000289893:N4691K|.	ENSP00000289893:N4691K|.	N|Y	+|+	3|1	2|0	MACF1|MACF1	39680282|39680282	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.512000|2.512000	0.45485|0.45485	1.352000|1.352000	0.45808|0.45808	-0.366000|-0.366000	0.07423|0.07423	AAT|TAC		0.353	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39907695	T	G	39907695	3	3	294	1	0	0	0	0	1	0	0	0	9146	1403	49	5	19000	5	MACF1	1	39907695	Missense_Mutation	SNP	T	TCGA-B9-4115-01A-01D-1252-08	12479095	39907695	209342926	3	17429											
MCOLN3	55283	hgsc.bcm.edu	37	1	85491700	85491700	+	Silent	SNP	A	A	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:85491700A>G	ENST00000370589.2	-	9	1069	c.1017T>C	c.(1015-1017)aaT>aaC	p.N339N	MCOLN3_ENST00000370587.1_3'UTR|MCOLN3_ENST00000474447.1_5'Flank|MCOLN3_ENST00000341115.4_Silent_p.N283N|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	339					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGTACCATCCATTGACAAATT	0.333																																																0													57	56	56					1																	85491700		2203	4300	6503	SO:0001819	synonymous_variant	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1017T>C	chr1.hg19:g.85491700A>G			Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	ENST00000370589.2	hg19	CCDS701.1																																																																																				0.333	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		G	85491700	A	G	85491700	2	3	294	1	0	0	0	0	0	0	0	1	9399	214	8	3		3	MCOLN3	1	85491700	Silent	SNP	A	TCGA-B9-4115-01A-01D-1252-08	45584005	85491700	163758921	4	17430											
ATP1A2	477	hgsc.bcm.edu	37	1	160105304	160105304	+	Silent	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:160105304C>A	ENST00000361216.3	+	16	2285	c.2196C>A	c.(2194-2196)ggC>ggA	p.G732G	ATP1A2_ENST00000392233.3_Silent_p.G732G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	732					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TTGCCATGGGCATCTCTGGCT	0.602																																																0													169	125	140					1																	160105304		2203	4300	6503	SO:0001819	synonymous_variant	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2196C>A	chr1.hg19:g.160105304C>A			D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	hg19	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	5.352	0.250270	0.10130	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.31	2.27	0.28462	.	.	.	.	.	T	0.32406	0.0828	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19844	-1.0293	4	.	.	.	.	4.575	0.12228	0.1513:0.6098:0.1479:0.091	.	.	.	.	E	443	.	.	A	+	2	0	ATP1A2	158371928	0.489000	0.26004	1.000000	0.80357	0.433000	0.31745	-0.303000	0.08210	1.154000	0.42482	0.561000	0.74099	GCA		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		A	160105304	C	A	160105304	2	1	294	1	0	0	0	0	0	0	0	1	1129	697	25	4		4	ATP1A2	1	160105304	Silent	SNP	C	TCGA-B9-4115-01A-01D-1252-08	74613604	160105304	89145317	5	17431											
IRF6	3664	hgsc.bcm.edu	37	1	209964089	209964089	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:209964089G>C	ENST00000367021.3	-	7	983	c.811C>G	c.(811-813)Ctg>Gtg	p.L271V	IRF6_ENST00000542854.1_Missense_Mutation_p.L176V	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	271					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ACCTGCTCCAGGCTGACGGGA	0.572										HNSCC(57;0.16)																																						0													80	76	77					1																	209964089		2203	4300	6503	SO:0001583	missense	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.811C>G	chr1.hg19:g.209964089G>C	ENSP00000355988:p.Leu271Val		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	hg19	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139845	0.77775	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.95788	-3.57;-3.57;-3.81	6.17	5.26	0.73747	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.95557	0.8556	L	0.39397	1.21	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.93440	0.6793	9	.	.	.	.	9.4637	0.38800	0.1513:0.0:0.8487:0.0	.	271	O14896	IRF6_HUMAN	V	271;176;271	ENSP00000355988:L271V;ENSP00000440532:L176V;ENSP00000403855:L271V	.	L	-	1	2	IRF6	208030712	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.122000	0.57910	2.941000	0.99782	0.655000	0.94253	CTG		0.572	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		C	209964089	G	C	209964089	3	2	294	1	0	0	0	0	1	0	0	0	7836	991	35	4	604	4	IRF6	1	209964089	Missense_Mutation	SNP	G	TCGA-B9-4115-01A-01D-1252-08	49858785	209964089	39286532	6	17432											
PRKCE	5581	hgsc.bcm.edu	37	2	45879507	45879507	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr2:45879507G>C	ENST00000306156.3	+	1	595	c.268G>C	c.(268-270)Ggc>Cgc	p.G90R		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	90	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TGCCCCCATAGGCTACGACGA	0.622																																																0													64	54	57					2																	45879507		2203	4300	6503	SO:0001583	missense	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.268G>C	chr2.hg19:g.45879507G>C	ENSP00000306124:p.Gly90Arg		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	hg19	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307076	0.95629	.	.	ENSG00000171132	ENST00000421201;ENST00000306156	T;T	0.71461	-0.57;-0.57	4.95	4.95	0.65309	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.062205	0.64402	D	0.000006	D	0.84629	0.5514	M	0.86651	2.83	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	T	0.83162	-0.0098	10	0.16896	T	0.51	.	18.1985	0.89830	0.0:0.0:1.0:0.0	.	90	Q02156	KPCE_HUMAN	R	90	ENSP00000394574:G90R;ENSP00000306124:G90R	ENSP00000306124:G90R	G	+	1	0	PRKCE	45733011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.802000	0.99131	2.270000	0.75569	0.561000	0.74099	GGC		0.622	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			C	45879507	G	C	45879507	3	2	294	1	0	0	0	0	1	0	0	0	12516	1000	35	4	270	4	PRKCE	2	45879507	Missense_Mutation	SNP	G	TCGA-B9-4115-01A-01D-1252-08		45879507	197319866	7	17433											
REV1	51455	hgsc.bcm.edu	37	2	100019166	100019166	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr2:100019166C>T	ENST00000258428.3	-	21	3710	c.3482G>A	c.(3481-3483)gGa>gAa	p.G1161E	RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_5'Flank|REV1_ENST00000393445.3_Missense_Mutation_p.G1160E	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1161	Protein interaction domain; mediates interaction with DNA polymerase zeta.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCAACAGCTCCAGCTAGATT	0.493								Direct reversal of damage																																								0													99	97	98					2																	100019166		2203	4300	6503	SO:0001583	missense	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3482G>A	chr2.hg19:g.100019166C>T	ENSP00000258428:p.Gly1161Glu		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	hg19	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204692	0.95033	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.38077	1.16;1.16	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63906	-0.6531	10	0.66056	D	0.02	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	1161;1160	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	E	1160;1161	ENSP00000377091:G1160E;ENSP00000258428:G1161E	ENSP00000258428:G1161E	G	-	2	0	REV1	99385598	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.844000	0.75390	2.825000	0.97269	0.655000	0.94253	GGA		0.493	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		T	100019166	C	T	100019166	3	4	294	1	0	0	0	0	1	0	0	0	13245	855	30	2	285	2	REV1	2	100019166	Missense_Mutation	SNP	C	TCGA-B9-4115-01A-01D-1252-08	54139659	100019166	143180207	8	17434											
NUP210	23225	hgsc.bcm.edu	37	3	13415370	13415370	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr3:13415370G>A	ENST00000254508.5	-	12	1517	c.1435C>T	c.(1435-1437)Cac>Tac	p.H479Y		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	479					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGCCACCGTGGGCCTGCGGA	0.592																																																0													87	65	72					3																	13415370		2203	4300	6503	SO:0001583	missense	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1435C>T	chr3.hg19:g.13415370G>A	ENSP00000254508:p.His479Tyr		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	hg19	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647580	0.29246	.	.	ENSG00000132182	ENST00000254508	T	0.41400	1.0	5.8	3.99	0.46301	Invasin/intimin cell-adhesion (1);	0.386148	0.30003	N	0.010650	T	0.31918	0.0812	L	0.57536	1.79	0.37940	D	0.932281	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.21999	-1.0229	10	0.02654	T	1	.	8.5233	0.33289	0.1373:0.1281:0.7346:0.0	.	479;479	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	Y	479	ENSP00000254508:H479Y	ENSP00000254508:H479Y	H	-	1	0	NUP210	13390370	0.997000	0.39634	0.794000	0.32065	0.780000	0.44128	2.395000	0.44459	0.784000	0.33661	0.655000	0.94253	CAC		0.592	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		A	13415370	G	A	13415370	3	1	294	1	0	0	0	0	1	0	0	0	10762	1348	47	2	4344	2	NUP210	3	13415370	Missense_Mutation	SNP	G	TCGA-B9-4115-01A-01D-1252-08		13415370	184607060	9	17435											
TRANK1	9881	hgsc.bcm.edu	37	3	36873055	36873055	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr3:36873055C>T	ENST00000429976.2	-	21	8134	c.7887G>A	c.(7885-7887)ctG>ctA	p.L2629L	TRANK1_ENST00000428977.2_Silent_p.L2079L|TRANK1_ENST00000301807.6_Silent_p.L2079L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2629							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCAAACAGAGCAGGCGGTTTA	0.532																																																0													60	62	61					3																	36873055		2004	4167	6171	SO:0001819	synonymous_variant	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7887G>A	chr3.hg19:g.36873055C>T			Q8N8K0	Silent	SNP	ENST00000429976.2	hg19	CCDS46789.2																																																																																				0.532	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		T	36873055	C	T	36873055	2	4	294	1	0	0	0	0	0	0	0	1	16459	697	25	2		2	TRANK1	3	36873055	Silent	SNP	C	TCGA-B9-4115-01A-01D-1252-08	23457685	36873055	161149375	10	17436											
ACAA1	30	hgsc.bcm.edu	37	3	38178134	38178134	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr3:38178134C>G	ENST00000333167.8	-	2	386	c.214G>C	c.(214-216)Gtt>Ctt	p.V72L	MYD88_ENST00000417037.2_5'Flank|ACAA1_ENST00000301810.7_Missense_Mutation_p.V72L|ACAA1_ENST00000444607.2_Missense_Mutation_p.V72L|MYD88_ENST00000443433.2_5'Flank|ACAA1_ENST00000544624.1_5'UTR|MYD88_ENST00000396334.3_5'Flank|ACAA1_ENST00000450296.1_Missense_Mutation_p.V72L|MYD88_ENST00000424893.1_5'Flank|MYD88_ENST00000495303.1_5'Flank	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	72					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TCCTTGAGAACCGCGGTCATG	0.642																																																0													53	47	49					3																	38178134		2203	4300	6503	SO:0001583	missense	30			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.214G>C	chr3.hg19:g.38178134C>G	ENSP00000333664:p.Val72Leu		G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	hg19	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442786	0.63067	.	.	ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000444607	D;D;D;D	0.93604	-2.13;-2.13;-3.25;-2.13	4.85	4.85	0.62838	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.212850	0.38605	N	0.001627	D	0.87164	0.6109	N	0.17278	0.47	0.80722	D	1	B;B;B;B	0.18863	0.001;0.003;0.031;0.0	B;B;B;B	0.17979	0.003;0.02;0.019;0.004	T	0.82806	-0.0275	10	0.14656	T	0.56	-17.5296	17.9617	0.89087	0.0:1.0:0.0:0.0	.	4;72;72;72	F5GXL8;C9JDE9;G5E935;P09110	.;.;.;THIK_HUMAN	L	72;72;72;4;72	ENSP00000333664:V72L;ENSP00000301810:V72L;ENSP00000395183:V72L;ENSP00000391918:V72L	ENSP00000301810:V72L	V	-	1	0	ACAA1	38153138	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.483000	0.60264	2.230000	0.72887	0.655000	0.94253	GTT		0.642	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		G	38178134	C	G	38178134	3	3	294	1	0	0	0	0	1	0	0	0	104	507	18	4	1104	4	ACAA1	3	38178134	Missense_Mutation	SNP	C	TCGA-B9-4115-01A-01D-1252-08	1305079	38178134	159844296	11	17437											
CTBP1	1487	hgsc.bcm.edu	37	4	1232016	1232016	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr4:1232016delA	ENST00000290921.6	-	2	331	c.150delT	c.(148-150)actfs	p.T50fs	CTBP1_ENST00000510568.1_Frame_Shift_Del_p.T39fs|CTBP1_ENST00000382952.3_Frame_Shift_Del_p.T39fs|CTBP1_ENST00000515690.1_5'UTR	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	50	Interaction with GLIS2 1. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AGAAGGCCACAGTGGCCACGT	0.657																																																0													69	66	67					4																	1232016		2202	4298	6500	SO:0001589	frameshift_variant	1487			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.150delT	chr4.hg19:g.1232016delA	ENSP00000290921:p.Thr50fs		Q4W5N3|Q7Z2Q5	Frame_Shift_Del	DEL	ENST00000290921.6	hg19	CCDS3348.1																																																																																				0.657	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		-	1232016	A	-	1232016	7	5	294	1	0	1	0	1	0	0	0	0	3999	175	7	0	1204	0	CTBP1	4	1232016	Frame_Shift_Del	DEL	A	TCGA-B9-4115-01A-01D-1252-08		1232016	189922260	12	17438											
HPSE	10855	hgsc.bcm.edu	37	4	84243394	84243394	+	Silent	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr4:84243394G>A	ENST00000405413.2	-	3	487	c.351C>T	c.(349-351)taC>taT	p.Y117Y	HPSE_ENST00000512196.1_Silent_p.Y117Y|HPSE_ENST00000311412.5_Silent_p.Y117Y|HPSE_ENST00000513463.1_Silent_p.Y117Y	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	117					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GAGATTGCCAGTAACTTCTCT	0.403																																																0													85	87	86					4																	84243394		2203	4300	6503	SO:0001819	synonymous_variant	10855			AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.351C>T	chr4.hg19:g.84243394G>A			A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Silent	SNP	ENST00000405413.2	hg19	CCDS3602.1																																																																																				0.403	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		A	84243394	G	A	84243394	2	1	294	1	0	0	0	0	0	0	0	1	7346	1024	36	2		2	HPSE	4	84243394	Silent	SNP	G	TCGA-B9-4115-01A-01D-1252-08	83011378	84243394	106910882	13	17439											
FAM198B	51313	hgsc.bcm.edu	37	4	159092402	159092402	+	Silent	SNP	A	A	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr4:159092402A>T	ENST00000296530.8	-	2	747	c.126T>A	c.(124-126)acT>acA	p.T42T	RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000393807.5_Silent_p.T42T|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000592057.1_Silent_p.T42T|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000585682.1_Silent_p.T42T	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	42						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGCACACGCAGTGCCCAGCA	0.637																																																0													42	44	43					4																	159092402		2202	4299	6501	SO:0001819	synonymous_variant	51313				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.126T>A	chr4.hg19:g.159092402A>T			Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	hg19	CCDS3798.1																																																																																				0.637	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		T	159092402	A	T	159092402	2	4	294	1	0	0	0	0	0	0	0	1	5531	175	7	5		5	FAM198B	4	159092402	Silent	SNP	A	TCGA-B9-4115-01A-01D-1252-08	74849008	159092402	32061874	14	17440											
FAM173B	134145	hgsc.bcm.edu	37	5	10249973	10249973	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:10249973C>T	ENST00000511437.1	-	1	25	c.13G>A	c.(13-15)Gga>Aga	p.G5R	CCT5_ENST00000506600.1_5'Flank|FAM173B_ENST00000510052.1_5'UTR|CTD-2256P15.1_ENST00000509915.1_RNA|CCT5_ENST00000515390.1_5'Flank|CCT5_ENST00000280326.4_5'Flank|CCT5_ENST00000515676.1_5'Flank|CCT5_ENST00000503026.1_5'Flank|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.G5R	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	5						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GCCTCACCTCCTCCTCCCTCC	0.532																																																0													21	28	26					5																	10249973		1815	4066	5881	SO:0001583	missense	134145				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.13G>A	chr5.hg19:g.10249973C>T	ENSP00000422338:p.Gly5Arg		B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	hg19	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707244	0.48412	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.19250	2.16;2.23	4.76	4.76	0.60689	.	2.684740	0.03150	N	0.167810	T	0.32823	0.0842	L	0.34521	1.04	0.30467	N	0.773718	P;P	0.50943	0.94;0.901	P;P	0.51615	0.675;0.476	T	0.30001	-0.9993	10	0.87932	D	0	.	13.2821	0.60222	0.0:1.0:0.0:0.0	.	5;5	E9PBZ4;Q6P4H8	.;F173B_HUMAN	R	5	ENSP00000422338:G5R;ENSP00000420876:G5R	ENSP00000424210:G5R	G	-	1	0	FAM173B	10302973	0.990000	0.36364	0.880000	0.34516	0.780000	0.44128	0.276000	0.18716	2.166000	0.68216	0.561000	0.74099	GGA		0.532	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		T	10249973	C	T	10249973	3	4	294	1	0	0	0	0	1	0	0	0	5496	690	24	2	708	2	FAM173B	5	10249973	Missense_Mutation	SNP	C	TCGA-B9-4115-01A-01D-1252-08		10249973	170665287	15	17441											
MAST4	375449	hgsc.bcm.edu	37	5	66438012	66438022	+	Frame_Shift_Del	DEL	AGGCAGAATTT	AGGCAGAATTT	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	AGGCAGAATTT	AGGCAGAATTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:66438012_66438022delAGGCAGAATTT	ENST00000403625.2	+	20	2859_2869	c.2564_2574delAGGCAGAATTT	c.(2563-2574)aaggcagaatttfs	p.KAEF855fs	MAST4_ENST00000261569.7_Frame_Shift_Del_p.KAEF661fs|MAST4_ENST00000403666.1_Frame_Shift_Del_p.KAEF666fs|MAST4_ENST00000405643.1_Frame_Shift_Del_p.KAEF676fs|MAST4_ENST00000404260.3_Frame_Shift_Del_p.KAEF858fs	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	858	AGC-kinase C-terminal.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTGAGACAGAAGGCAGAATTTATTCCCCAAC	0.403																																																0																																										SO:0001589	frameshift_variant	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2564_2574delAGGCAGAATTT	chr5.hg19:g.66438012_66438022delAGGCAGAATTT	ENSP00000385727:p.Lys855fs		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Frame_Shift_Del	DEL	ENST00000403625.2	hg19	CCDS54861.1																																																																																				0.403	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			-	66438022	AGGCAGAATTT	-	66438012	7	5	294	1	0	1	0	1	0	0	0	0	9329	72	3	0	2772	0	MAST4	5	66438012	Frame_Shift_Del	DEL	AGGCAGAATTT	TCGA-B9-4115-01A-01D-1252-08	56188039	66438012	114477248	16	17442											
RGNEF	64283	hgsc.bcm.edu	37	5	73163796	73163796	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:73163796G>C	ENST00000426542.2	+	18	2268	c.2248G>C	c.(2248-2250)Gga>Cga	p.G750R	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.G750R|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.G750R|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.G750R|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.G437R|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.G750R|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.G750R			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	750					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.G750R(4)									GGAGACTGTGGGACAGGTCCA	0.522																																																4	Substitution - Missense(4)	lung(4)											104	99	101					5																	73163796		1962	4159	6121	SO:0001583	missense	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2248G>C	chr5.hg19:g.73163796G>C	ENSP00000412175:p.Gly750Arg		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	hg19	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	2.497	-0.316052	0.05422	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.10192	3.16;3.16;3.15;2.9;3.16;3.15;3.0	5.67	4.72	0.59763	.	.	.	.	.	T	0.10208	0.0250	L	0.44542	1.39	0.09310	N	1	B;B;B;P	0.36282	0.014;0.027;0.015;0.546	B;B;B;B	0.36244	0.005;0.005;0.019;0.22	T	0.18209	-1.0344	9	0.20519	T	0.43	.	10.1606	0.42849	0.0:0.175:0.6902:0.1348	.	437;750;750;750	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	R	750;750;750;750;750;750;437	ENSP00000296794:G750R;ENSP00000441913:G750R;ENSP00000441436:G750R;ENSP00000287898:G750R;ENSP00000411459:G750R;ENSP00000412175:G750R;ENSP00000296799:G437R	ENSP00000287898:G750R	G	+	1	0	RP11-428C6.1	73199552	0.004000	0.15560	0.021000	0.16686	0.002000	0.02628	1.469000	0.35343	2.671000	0.90904	0.585000	0.79938	GGA		0.522	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			C	73163796	G	C	73163796	3	2	294	1	0	0	0	0	1	0	0	0	13289	1233	43	4	2318	4	RGNEF	5	73163796	Missense_Mutation	SNP	G	TCGA-B9-4115-01A-01D-1252-08	6725784	73163796	107751464	17	17443											
SHROOM1	134549	hgsc.bcm.edu	37	5	132160478	132160478	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:132160478G>T	ENST00000378679.3	-	6	1874	c.1070C>A	c.(1069-1071)cCt>cAt	p.P357H	SHROOM1_ENST00000319854.3_Missense_Mutation_p.P357H|SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	357					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAACTCTGCAGGATACATCAC	0.567																																																0													60	62	61					5																	132160478		2203	4300	6503	SO:0001583	missense	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1070C>A	chr5.hg19:g.132160478G>T	ENSP00000367950:p.Pro357His		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	hg19	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	9.923	1.212785	0.22289	.	.	ENSG00000164403	ENST00000378679;ENST00000319854	T;T	0.24350	1.86;1.86	3.93	3.06	0.35304	.	0.509864	0.20038	N	0.100569	T	0.18130	0.0435	L	0.27053	0.805	0.19300	N	0.999977	B;B	0.27498	0.18;0.113	B;B	0.29176	0.099;0.046	T	0.19976	-1.0289	10	0.72032	D	0.01	-3.8793	9.1379	0.36886	0.0:0.0:0.7829:0.2171	.	357;357	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	H	357	ENSP00000367950:P357H;ENSP00000324245:P357H	ENSP00000324245:P357H	P	-	2	0	SHROOM1	132188377	0.141000	0.22595	0.029000	0.17559	0.002000	0.02628	1.458000	0.35223	1.222000	0.43521	-0.268000	0.10319	CCT		0.567	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		T	132160478	G	T	132160478	3	4	294	1	0	0	0	0	1	0	0	0	14299	1000	35	4	1508	4	SHROOM1	5	132160478	Missense_Mutation	SNP	G	TCGA-B9-4115-01A-01D-1252-08	58996682	132160478	48754782	18	17444											
SEC24A	10802	hgsc.bcm.edu	37	5	134002687	134002687	+	Splice_Site	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:134002687G>A	ENST00000398844.2	+	3	1027		c.e3+1		SEC24A_ENST00000322887.4_Splice_Site	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACCAAGAAGGTAAGTGAACC	0.438																																																0													40	39	39					5																	134002687		1833	4087	5920	SO:0001630	splice_region_variant	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.739+1G>A	chr5.hg19:g.134002687G>A			A8MVW3|Q8WUV2|Q96GP7	Splice_Site	SNP	ENST00000398844.2	hg19	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297202	0.60086	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7049	0.85369	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC24A	134030586	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	5.912000	0.69948	2.428000	0.82296	0.603000	0.83216	.		0.438	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1		Intron	A	134002687	G	A	134002687	5	1	294	1	0	0	0	0	0	0	1	0	14000	1275	44	2	750	2	SEC24A	5	134002687	Splice_Site	SNP	G	TCGA-B9-4115-01A-01D-1252-08	1842209	134002687	46912573	19	17445											
SPOCK1	6695	hgsc.bcm.edu	37	5	136834142	136834142	+	Missense_Mutation	SNP	C	C	A	rs200001053		TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:136834142C>A	ENST00000394945.1	-	2	275	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C	SPOCK1_ENST00000282223.7_Missense_Mutation_p.G36C	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	36					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGAAATTGCCGTGGTTGGGG	0.682																																																0													22	21	21					5																	136834142		2203	4299	6502	SO:0001583	missense	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.106G>T	chr5.hg19:g.136834142C>A	ENSP00000378401:p.Gly36Cys		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	hg19	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179946	0.78564	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000505690	T;T;T	0.55588	0.54;0.54;0.51	3.66	2.77	0.32553	.	0.371240	0.21081	N	0.080484	T	0.58509	0.2127	L	0.56199	1.76	0.25077	N	0.990954	D	0.62365	0.991	P	0.55965	0.788	T	0.51576	-0.8688	10	0.66056	D	0.02	.	9.9319	0.41528	0.204:0.796:0.0:0.0	.	36	Q08629	TICN1_HUMAN	C	36	ENSP00000378401:G36C;ENSP00000282223:G36C;ENSP00000424517:G36C	ENSP00000282223:G36C	G	-	1	0	SPOCK1	136862041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.898000	0.63238	0.626000	0.30322	0.462000	0.41574	GGC		0.682	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		A	136834142	C	A	136834142	3	1	294	1	0	0	0	0	1	0	0	0	15084	652	23	4	1253	4	SPOCK1	5	136834142	Missense_Mutation	SNP	C	TCGA-B9-4115-01A-01D-1252-08	2831455	136834142	44081118	20	17446											
HIST1H2AD	3013	hgsc.bcm.edu	37	6	26199108	26199109	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	CA	CA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr6:26199108_26199109delCA	ENST00000341023.1	-	1	362_363	c.363_364delTG	c.(361-366)actgagfs	p.E122fs	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				TGGTGACTCTCAGTCTTCTTGG	0.485																																																0																																										SO:0001589	frameshift_variant	3013			Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"Histones / Replication-dependent"	4729	protein-coding gene	gene with protein product		602792	"H2A histone family, member G", "histone 1, H2ad"	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.363_364delTG	chr6.hg19:g.26199108_26199109delCA	ENSP00000341094:p.Glu122fs		A0PK91|P57754|Q6FGY6	Frame_Shift_Del	DEL	ENST00000341023.1	hg19	CCDS4591.1																																																																																				0.485	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1	NM_021065		-	26199109	CA	-	26199108	7	5	294	1	0	1	0	1	0	0	0	0	7133	835	29	0	32	0	HIST1H2AD	6	26199108	Frame_Shift_Del	DEL	CA	TCGA-B9-4115-01A-01D-1252-08		26199108	144915959	21	17447											
BTN3A2	11118	hgsc.bcm.edu	37	6	26370805	26370805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr6:26370805delA	ENST00000356386.2	+	5	877	c.689delA	c.(688-690)gaafs	p.E230fs	BTN3A2_ENST00000527422.1_Frame_Shift_Del_p.E230fs|BTN3A2_ENST00000377708.2_Frame_Shift_Del_p.E230fs|BTN3A2_ENST00000508906.2_Frame_Shift_Del_p.E188fs|BTN3A2_ENST00000396934.3_Frame_Shift_Del_p.E207fs|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396948.1_Frame_Shift_Del_p.E230fs	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	230					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CTCGGCCTGGAAAAGACAGCC	0.522																																																0													105	103	103					6																	26370805		2203	4300	6503	SO:0001589	frameshift_variant	11118			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.689delA	chr6.hg19:g.26370805delA	ENSP00000348751:p.Glu230fs		B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Frame_Shift_Del	DEL	ENST00000356386.2	hg19	CCDS4605.1																																																																																				0.522	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			-	26370805	A	-	26370805	7	5	294	1	0	1	0	1	0	0	0	0	1565	246	9	0	699	0	BTN3A2	6	26370805	Frame_Shift_Del	DEL	A	TCGA-B9-4115-01A-01D-1252-08	171697	26370805	144744262	22	17448											
KIF6	221458	hgsc.bcm.edu	37	6	39313488	39313488	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr6:39313488G>T	ENST00000287152.7	-	21	2403	c.2309C>A	c.(2308-2310)cCa>cAa	p.P770Q	KIF6_ENST00000538893.1_Missense_Mutation_p.P714Q|KIF6_ENST00000373215.3_Missense_Mutation_p.P753Q|KIF6_ENST00000394362.1_Missense_Mutation_p.P204Q|KIF6_ENST00000373216.3_Missense_Mutation_p.P753Q|KIF6_ENST00000373213.4_Missense_Mutation_p.P609Q|KIF6_ENST00000541946.1_Missense_Mutation_p.P221Q|KIF6_ENST00000229913.5_Missense_Mutation_p.P221Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	770					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTCTTCCAGTGGGGTGCTGGT	0.557																																																0													124	107	113					6																	39313488		2203	4300	6503	SO:0001583	missense	221458			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.2309C>A	chr6.hg19:g.39313488G>T	ENSP00000287152:p.Pro770Gln		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	hg19	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.700|6.700	0.497738|0.497738	0.12762|0.12762	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000458470|ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946	.|T;T;T;T;T;T;T;T	.|0.71222	.|-0.49;1.51;-0.53;-0.31;1.53;-0.49;-0.55;1.49	4.12|4.12	-1.35|-1.35	0.09114|0.09114	.|.	.|.	.|.	.|.	.|.	T|T	0.11665|0.11665	0.0284|0.0284	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.26195	.|0.09;0.09;0.144;0.054	.|B;B;B;B	.|0.29440	.|0.048;0.03;0.102;0.022	T|T	0.20940|0.20940	-1.0260|-1.0260	5|9	.|0.09084	.|T	.|0.74	.|.	1.384|1.384	0.02236|0.02236	0.1966:0.3047:0.3385:0.1602|0.1966:0.3047:0.3385:0.1602	.|.	.|753;714;753;770	.|E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.|.;.;.;KIF6_HUMAN	N|Q	645|770;204;753;609;221;753;714;221	.|ENSP00000287152:P770Q;ENSP00000377889:P204Q;ENSP00000362312:P753Q;ENSP00000362309:P609Q;ENSP00000229913:P221Q;ENSP00000362311:P753Q;ENSP00000441435:P714Q;ENSP00000439064:P221Q	.|ENSP00000229913:P221Q	H|P	-|-	1|2	0|0	KIF6|KIF6	39421466|39421466	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.191000|0.191000	0.23601|0.23601	-1.263000|-1.263000	0.02850|0.02850	-0.421000|-0.421000	0.07416|0.07416	0.563000|0.563000	0.77884|0.77884	CAC|CCA		0.557	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		T	39313488	G	T	39313488	3	4	294	1	0	0	0	0	1	0	0	0	8310	1348	47	4	147	4	KIF6	6	39313488	Missense_Mutation	SNP	G	TCGA-B9-4115-01A-01D-1252-08	12942683	39313488	131801579	23	17449											
NR2E1	7101	hgsc.bcm.edu	37	6	108499383	108499383	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr6:108499383T>G	ENST00000368986.4	+	5	1288	c.580T>G	c.(580-582)Ttc>Gtc	p.F194V	NR2E1_ENST00000368983.3_Missense_Mutation_p.F231V	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	194	Ligand-binding. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CAGACTTCTCTTCATGAGCAT	0.527																																																0													123	104	110					6																	108499383		2203	4300	6503	SO:0001583	missense	7101			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.580T>G	chr6.hg19:g.108499383T>G	ENSP00000357982:p.Phe194Val		Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	hg19	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	T	31	5.077084	0.94000	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	T;T	0.50813	0.73;0.73	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.043698	0.85682	D	0.000000	T	0.30070	0.0753	N	0.26092	0.79	0.80722	D	1	P	0.46621	0.881	P	0.48089	0.566	T	0.07009	-1.0795	10	0.30854	T	0.27	.	14.0221	0.64563	0.0:0.0:0.0:1.0	.	194	Q9Y466	NR2E1_HUMAN	V	194;231	ENSP00000357982:F194V;ENSP00000357979:F231V	ENSP00000357979:F231V	F	+	1	0	NR2E1	108606076	1.000000	0.71417	0.970000	0.41538	0.957000	0.61999	7.698000	0.84413	2.134000	0.65973	0.528000	0.53228	TTC		0.527	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			G	108499383	T	G	108499383	3	3	294	1	0	0	0	0	1	0	0	0	10627	1609	56	5	598	5	NR2E1	6	108499383	Missense_Mutation	SNP	T	TCGA-B9-4115-01A-01D-1252-08	69185895	108499383	62615684	24	17450											
HIPK2	28996	hgsc.bcm.edu	37	7	139299101	139299101	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr7:139299101T>C	ENST00000406875.3	-	8	2015	c.1921A>G	c.(1921-1923)Aca>Gca	p.T641A	HIPK2_ENST00000428878.2_Missense_Mutation_p.T614A|HIPK2_ENST00000342645.6_Missense_Mutation_p.T641A	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	641	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATCTGGGCTGTTCCTGTCTGC	0.597																																																0													47	54	52					7																	139299101		1956	4149	6105	SO:0001583	missense	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1921A>G	chr7.hg19:g.139299101T>C	ENSP00000385571:p.Thr641Ala		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	hg19		.	.	.	.	.	.	.	.	.	.	T	12.91	2.079694	0.36662	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.50277	0.75;0.8;0.78	5.39	2.9	0.33743	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.43667	D	0.996098	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.06481	-1.0824	8	0.27785	T	0.31	.	9.7368	0.40392	0.0:0.1461:0.0:0.8539	.	641;614	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	A	641;614;641	ENSP00000385571:T641A;ENSP00000413724:T614A;ENSP00000343108:T641A	ENSP00000343108:T641A	T	-	1	0	HIPK2	138949641	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	0.813000	0.27225	0.383000	0.24910	0.460000	0.39030	ACA		0.597	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		C	139299101	T	C	139299101	3	2	294	1	0	0	0	0	1	0	0	0	7119	1725	60	3	1707	3	HIPK2	7	139299101	Missense_Mutation	SNP	T	TCGA-B9-4115-01A-01D-1252-08		139299101	19839562	25	17451											
AMAC1L2	83650	hgsc.bcm.edu	37	8	11188719	11188719	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr8:11188719G>A	ENST00000382435.4	+	1	323	c.104G>A	c.(103-105)gGt>gAt	p.G35D		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	35						integral component of membrane (GO:0016021)		p.G35D(1)									CAGCCCTCTGGTGCCACCAAT	0.682																																																1	Substitution - Missense(1)	endometrium(1)																																								SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.104G>A	chr8.hg19:g.11188719G>A	ENSP00000371872:p.Gly35Asp		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	hg19	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.973298	0.00452	.	.	ENSG00000177710	ENST00000382435	T	0.23348	1.91	0.34	0.34	0.15985	.	0.293668	0.23411	N	0.048476	T	0.06280	0.0162	N	0.02539	-0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.28267	-1.0049	9	0.09084	T	0.74	0.0032	.	.	.	.	35	Q96KT7	S35G5_HUMAN	D	35	ENSP00000371872:G35D	ENSP00000371872:G35D	G	+	2	0	SLC35G5	11226129	0.973000	0.33851	0.352000	0.25734	0.047000	0.14425	0.142000	0.16096	-1.532000	0.01747	-2.047000	0.00414	GGT		0.682	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		A	11188719	G	A	11188719	3	1	294	1	0	0	0	0	1	0	0	0	560	1261	44	2	106	2	AMAC1L2	8	11188719	Missense_Mutation	SNP	G	TCGA-B9-4115-01A-01D-1252-08		11188719	135175303	26	17452											
FGFR1	2260	hgsc.bcm.edu	37	8	38271216	38271216	+	Missense_Mutation	SNP	G	G	T	rs377620009		TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr8:38271216G>T	ENST00000447712.2	-	18	3340	c.2399C>A	c.(2398-2400)cCg>cAg	p.P800Q	FGFR1_ENST00000532791.1_Missense_Mutation_p.P798Q|FGFR1_ENST00000397108.4_Missense_Mutation_p.P798Q|FGFR1_ENST00000425967.3_Missense_Mutation_p.P831Q|FGFR1_ENST00000326324.6_Missense_Mutation_p.P709Q|FGFR1_ENST00000397113.2_Missense_Mutation_p.P798Q|FGFR1_ENST00000397091.5_Missense_Mutation_p.P798Q|FGFR1_ENST00000356207.5_Missense_Mutation_p.P711Q|FGFR1_ENST00000341462.5_Missense_Mutation_p.P800Q|FGFR1_ENST00000335922.5_Missense_Mutation_p.P790Q|FGFR1_ENST00000397103.1_Missense_Mutation_p.P711Q	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	800					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)	CTCGGGCAGCGGCTCATGAGA	0.662		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													21	28	26					8																	38271216		2059	4189	6248	SO:0001583	missense	2260			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.2399C>A	chr8.hg19:g.38271216G>T	ENSP00000400162:p.Pro800Gln		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	hg19	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689014	0.88735	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	T;T;T;T;T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.53	5.53	0.82687	.	0.101061	0.64402	D	0.000002	D	0.86389	0.5921	M	0.76574	2.34	0.58432	D	0.999997	D;D;D;D;D	0.71674	0.996;0.996;0.994;0.998;0.996	D;D;P;D;D	0.70487	0.956;0.956;0.905;0.969;0.956	D	0.87462	0.2408	10	0.87932	D	0	.	19.4585	0.94906	0.0:0.0:1.0:0.0	.	709;709;800;790;798	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	Q	798;831;800;800;798;798;711;790;709;711;798	ENSP00000380280:P798Q;ENSP00000393312:P831Q;ENSP00000400162:P800Q;ENSP00000340636:P800Q;ENSP00000432972:P798Q;ENSP00000380302:P798Q;ENSP00000348537:P711Q;ENSP00000337247:P790Q;ENSP00000327229:P709Q;ENSP00000380292:P711Q;ENSP00000380297:P798Q	ENSP00000327229:P709Q	P	-	2	0	FGFR1	38390373	1.000000	0.71417	0.955000	0.39395	0.952000	0.60782	7.781000	0.85668	2.602000	0.87976	0.655000	0.94253	CCG		0.662	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	38271216	G	T	38271216	3	4	294	1	0	0	0	0	1	0	0	0	5865	1116	39	4	73	4	FGFR1	8	38271216	Missense_Mutation	SNP	G	TCGA-B9-4115-01A-01D-1252-08	27082497	38271216	108092806	27	17453											
TYRP1	7306	hgsc.bcm.edu	37	9	12694339	12694339	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr9:12694339C>G	ENST00000388918.5	+	2	472	c.343C>G	c.(343-345)Cct>Gct	p.P115A	TYRP1_ENST00000381137.2_5'UTR|TYRP1_ENST00000381136.2_5'Flank	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	115					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GACGTGCCGTCCTGGCTGGAG	0.507									Oculocutaneous Albinism																																							0													35	33	34					9																	12694339		2203	4300	6503	SO:0001583	missense	7306	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.343C>G	chr9.hg19:g.12694339C>G	ENSP00000373570:p.Pro115Ala		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	hg19	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937217	0.52972	.	.	ENSG00000107165	ENST00000388918	D	0.98926	-5.24	5.5	5.5	0.81552	Uncharacterised domain, di-copper centre (2);	0.097920	0.64402	D	0.000001	D	0.97324	0.9125	L	0.55834	1.745	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	D	0.95286	0.8390	9	.	.	.	-1.287	19.7727	0.96373	0.0:1.0:0.0:0.0	.	115	P17643	TYRP1_HUMAN	A	115	ENSP00000373570:P115A	.	P	+	1	0	TYRP1	12684339	0.998000	0.40836	1.000000	0.80357	0.744000	0.42396	3.774000	0.55341	2.758000	0.94735	0.563000	0.77884	CCT		0.507	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		G	12694339	C	G	12694339	3	3	294	1	0	0	0	0	1	0	0	0	16821	855	30	4	345	4	TYRP1	9	12694339	Missense_Mutation	SNP	C	TCGA-B9-4115-01A-01D-1252-08		12694339	128519092	28	17454											
KIF12	113220	hgsc.bcm.edu	37	9	116859620	116859620	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr9:116859620A>T	ENST00000374118.3	-	4	430	c.193T>A	c.(193-195)Ttt>Att	p.F65I	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	198	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AGACTCCCAAATTCCACCACC	0.602																																																0													41	43	43					9																	116859620		2203	4300	6503	SO:0001583	missense	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.193T>A	chr9.hg19:g.116859620A>T	ENSP00000363232:p.Phe65Ile		Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	hg19	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	A	6.945	0.544191	0.13312	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.70045	-0.45	5.5	0.00987	0.14080	Kinesin, motor domain (4);	0.463632	0.22239	N	0.062709	T	0.33000	0.0848	N	0.01817	-0.705	0.23906	N	0.996504	B	0.10296	0.003	B	0.15484	0.013	T	0.21245	-1.0251	10	0.52906	T	0.07	.	4.5522	0.12117	0.4767:0.0:0.0832:0.4401	.	198	Q96FN5	KIF12_HUMAN	I	65;198	ENSP00000363232:F65I	ENSP00000259410:F198I	F	-	1	0	KIF12	115899441	0.889000	0.30405	0.842000	0.33263	0.054000	0.15201	1.421000	0.34815	-0.251000	0.09542	-0.451000	0.05528	TTT		0.602	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		T	116859620	A	T	116859620	3	4	294	1	0	0	0	0	1	0	0	0	8275	101	4	5	1400	5	KIF12	9	116859620	Missense_Mutation	SNP	A	TCGA-B9-4115-01A-01D-1252-08	104165281	116859620	24353811	29	17455											
METTL10	399818	hgsc.bcm.edu	37	10	126477651	126477651	+	Silent	SNP	A	A	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr10:126477651A>G	ENST00000368836.2	-	3	288	c.252T>C	c.(250-252)ctT>ctC	p.L84L	RP11-12J10.3_ENST00000494792.1_Missense_Mutation_p.L49S	NM_212554.2	NP_997719.2	Q5JPI9	MET10_HUMAN	methyltransferase like 10	84							methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		TTCCAATATCAAGCACTGAAG	0.348																																																0													172	152	159					10																	126477651		2203	4300	6503	SO:0001819	synonymous_variant	399818				CCDS31307.1	10q26.13	2010-01-15			ENSG00000203791	ENSG00000203791			33787	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 138"	C10orf138			Standard	NM_212554		Approved	Em:AC068896.3	uc001lhy.1	Q5JPI9	OTTHUMG00000019217	ENST00000368836.2:c.252T>C	chr10.hg19:g.126477651A>G			A8MPY7	Silent	SNP	ENST00000368836.2	hg19	CCDS31307.1																																																																																				0.348	METTL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050884.1	NM_212554		G	126477651	A	G	126477651	2	3	294	1	0	0	0	0	0	0	0	1	9496	117	5	3		3	METTL10	10	126477651	Silent	SNP	A	TCGA-B9-4115-01A-01D-1252-08		126477651	9057096	30	17456											
OSBPL5	114879	hgsc.bcm.edu	37	11	3143300	3143300	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr11:3143300delT	ENST00000263650.7	-	5	488	c.329delA	c.(328-330)aagfs	p.K111fs	OSBPL5_ENST00000525498.1_Frame_Shift_Del_p.K63fs|OSBPL5_ENST00000348039.5_Frame_Shift_Del_p.K111fs|OSBPL5_ENST00000389989.3_Frame_Shift_Del_p.K111fs|OSBPL5_ENST00000542243.1_Frame_Shift_Del_p.E26fs	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	111					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCGCGCTTCTTCTCCTGCCG	0.687																																																0													43	34	37					11																	3143300		2191	4291	6482	SO:0001589	frameshift_variant	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.329delA	chr11.hg19:g.3143300delT	ENSP00000263650:p.Lys111fs		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Frame_Shift_Del	DEL	ENST00000263650.7	hg19	CCDS31344.1																																																																																				0.687	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			-	3143300	T	-	3143300	7	5	294	1	0	1	0	1	0	0	0	0	11282	1609	56	0	2382	0	OSBPL5	11	3143300	Frame_Shift_Del	DEL	T	TCGA-B9-4115-01A-01D-1252-08		3143300	131863216	31	17457											
OTUB1	55611	hgsc.bcm.edu	37	11	63756155	63756155	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr11:63756155G>T	ENST00000538426.1	+	3	194	c.150G>T	c.(148-150)gaG>gaT	p.E50D	OTUB1_ENST00000536443.1_3'UTR|OTUB1_ENST00000422031.2_Missense_Mutation_p.E87D|OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000543004.1_Missense_Mutation_p.E59D|OTUB1_ENST00000428192.2_Missense_Mutation_p.E50D|OTUB1_ENST00000543988.1_Missense_Mutation_p.E20D|OTUB1_ENST00000535715.1_Missense_Mutation_p.E50D	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	50					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						TGGTGTCAGAGCGGCTGGAGC	0.537																																																0													114	116	115					11																	63756155		2201	4297	6498	SO:0001583	missense	55611			AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"OTU domain containing"	23077	protein-coding gene	gene with protein product		608337	"OTU domain, ubiquitin aldehyde binding 1"			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.150G>T	chr11.hg19:g.63756155G>T	ENSP00000444357:p.Glu50Asp		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	ENST00000538426.1	hg19	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	G	8.534	0.871741	0.17322	.	.	ENSG00000167770	ENST00000535715;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.49	5.49	0.81192	.	.	.	.	.	T	0.29491	0.0735	N	0.17248	0.465	0.35424	D	0.793481	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.29971	-0.9994	9	0.15952	T	0.53	.	10.7288	0.46085	0.0876:0.0:0.9124:0.0	.	87;50	B4DPD5;Q96FW1	.;OTUB1_HUMAN	D	50;50;87;50;59;20	ENSP00000440211:E50D;ENSP00000402551:E50D;ENSP00000416973:E87D;ENSP00000444357:E50D;ENSP00000437453:E59D;ENSP00000441328:E20D	ENSP00000416973:E87D	E	+	3	2	OTUB1	63512731	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.546000	0.36179	2.753000	0.94483	0.591000	0.81541	GAG		0.537	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		T	63756155	G	T	63756155	3	4	294	1	0	0	0	0	1	0	0	0	11313	962	34	4	160	4	OTUB1	11	63756155	Missense_Mutation	SNP	G	TCGA-B9-4115-01A-01D-1252-08	60612855	63756155	71250361	32	17458											
IGSF9B	22997	hgsc.bcm.edu	37	11	133814179	133814179	+	Silent	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr11:133814179C>A	ENST00000321016.8	-	3	575	c.345G>T	c.(343-345)gtG>gtT	p.V115V	IGSF9B_ENST00000533871.2_Silent_p.V115V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	115	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGCATGAGCACTTTGCACT	0.577																																																0													108	116	113					11																	133814179		2103	4231	6334	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.345G>T	chr11.hg19:g.133814179C>A			G5EA26	Silent	SNP	ENST00000321016.8	hg19																																																																																					0.577	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		A	133814179	C	A	133814179	2	1	294	1	0	0	0	0	0	0	0	1	7608	697	25	4		4	IGSF9B	11	133814179	Silent	SNP	C	TCGA-B9-4115-01A-01D-1252-08	70058024	133814179	1192337	33	17459											
ATP11A	23250	hgsc.bcm.edu	37	13	113516824	113516825	+	Missense_Mutation	DNP	GC	GC	AG	rs140812688		TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr13:113516824_113516825GC>AG	ENST00000487903.1	+	25	3014_3015	c.2926_2927GC>AG	c.(2926-2928)GCa>AGa	p.A976R	ATP11A_ENST00000375645.3_Missense_Mutation_p.A976R|ATP11A_ENST00000375630.2_Missense_Mutation_p.A976R|ATP11A_ENST00000283558.8_Missense_Mutation_p.A976R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	976					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACTGTTTGACGCACTGGTGTTC	0.535																																																0																																										SO:0001583	missense	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	Exception_encountered	chr13.hg19:g.113516824_113516825delinsAG	ENSP00000420387:p.Ala976Arg		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	hg19	CCDS32011.1																																																																																				0.535	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		AG	113516825	GC	AG	113516824	3	1	294	1	0	0	0	0	1	0	0	0	1119	1087	38	1	3024	1	ATP11A	13	113516824	Missense_Mutation	DNP	GC	TCGA-B9-4115-01A-01D-1252-08		113516824	1653054	34	17460											
ZFYVE26	23503	hgsc.bcm.edu	37	14	68282659	68282659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr14:68282659C>A	ENST00000347230.4	-	2	160	c.22G>T	c.(22-24)Gag>Tag	p.E8*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.E8*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	8					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCAGCTTCCTCTTTTCCAAAT	0.478																																																0													30	30	30					14																	68282659		2203	4300	6503	SO:0001587	stop_gained	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.22G>T	chr14.hg19:g.68282659C>A	ENSP00000251119:p.Glu8*		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Nonsense_Mutation	SNP	ENST00000347230.4	hg19	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	37	6.195059	0.97367	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.4213	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	8	.	ENSP00000251119:E8X	E	-	1	0	ZFYVE26	67352412	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.200000	0.72118	2.783000	0.95769	0.655000	0.94253	GAG		0.478	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		A	68282659	C	A	68282659	4	1	294	1	0	0	0	0	0	1	0	0	17673	922	32	4	7761	4	ZFYVE26	14	68282659	Nonsense_Mutation	SNP	C	TCGA-B9-4115-01A-01D-1252-08		68282659	39066881	35	17461											
DICER1	23405	hgsc.bcm.edu	37	14	95556880	95556880	+	Silent	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr14:95556880G>T	ENST00000526495.1	-	29	6015	c.5724C>A	c.(5722-5724)gcC>gcA	p.A1908A	DICER1_ENST00000343455.3_Silent_p.A1908A|DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Silent_p.A1908A|DICER1_ENST00000556045.1_Silent_p.A806A|DICER1_ENST00000527414.1_Silent_p.A1908A			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1908	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCTTCGGAGGGCTCTTCTTG	0.413			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													187	186	187					14																	95556880		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5724C>A	chr14.hg19:g.95556880G>T			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	hg19	CCDS9931.1																																																																																				0.413	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			T	95556880	G	T	95556880	2	4	294	1	0	0	0	0	0	0	0	1	4523	1219	43	4		4	DICER1	14	95556880	Silent	SNP	G	TCGA-B9-4115-01A-01D-1252-08	27274221	95556880	11792660	36	17462											
SIVA1	10572	hgsc.bcm.edu	37	14	105222013	105222013	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr14:105222013C>T	ENST00000329967.6	+	2	267	c.165C>T	c.(163-165)gaC>gaT	p.D55D	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	55	Interaction with BCL2L1 isoform Bcl-x(L) and inhibition of BCL2L1 anti-apoptotic activity.				activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		CCTACCTGGACCACGTGTGGG	0.607																																																0													92	88	89					14																	105222013		2203	4300	6503	SO:0001819	synonymous_variant	10572			U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.165C>T	chr14.hg19:g.105222013C>T			Q96P98|Q9UPD6	Silent	SNP	ENST00000329967.6	hg19	CCDS9992.1	.	.	.	.	.	.	.	.	.	.	C	3.241	-0.155408	0.06544	.	.	ENSG00000184990	ENST00000556195	.	.	.	4.89	3.01	0.34805	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50499	-0.8821	4	.	.	.	-28.3879	7.3185	0.26513	0.0:0.783:0.0:0.217	.	.	.	.	I	73	.	.	T	+	2	0	SIVA1	104293058	0.105000	0.21958	0.720000	0.30636	0.302000	0.27658	0.003000	0.13083	1.027000	0.39758	0.462000	0.41574	ACC		0.607	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	NM_006427		T	105222013	C	T	105222013	2	4	294	1	0	0	0	0	0	0	0	1	14351	506	18	2		2	SIVA1	14	105222013	Silent	SNP	C	TCGA-B9-4115-01A-01D-1252-08	9665133	105222013	2127527	37	17463											
KIAA0430	9665	hgsc.bcm.edu	37	16	15716936	15716936	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr16:15716936delA	ENST00000396368.3	-	11	2521	c.2315delT	c.(2314-2316)ttcfs	p.F772fs	KIAA0430_ENST00000602337.1_Frame_Shift_Del_p.F769fs|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Frame_Shift_Del_p.F769fs|KIAA0430_ENST00000344181.3_Frame_Shift_Del_p.F441fs|KIAA0430_ENST00000551742.1_Frame_Shift_Del_p.F772fs	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	772					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGCAATGTTGAAAGCAAGCGG	0.408																																																0													91	88	89					16																	15716936		1865	4105	5970	SO:0001589	frameshift_variant	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2315delT	chr16.hg19:g.15716936delA	ENSP00000379654:p.Phe772fs		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Del	DEL	ENST00000396368.3	hg19	CCDS10562.2																																																																																				0.408	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		-	15716936	A	-	15716936	7	5	294	1	0	1	0	1	0	0	0	0	8179	246	9	0	2981	0	KIAA0430	16	15716936	Frame_Shift_Del	DEL	A	TCGA-B9-4115-01A-01D-1252-08		15716936	74637817	38	17464											
CES8	283848	hgsc.bcm.edu	37	16	67038037	67038037	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr16:67038037C>A	ENST00000326686.5	+	9	990	c.990C>A	c.(988-990)gaC>gaA	p.D330E	CES4A_ENST00000535696.1_Missense_Mutation_p.D236E|CES4A_ENST00000398354.1_Missense_Mutation_p.D330E|CES4A_ENST00000338718.4_Missense_Mutation_p.D353E|CES4A_ENST00000540579.1_Missense_Mutation_p.D232E|CES4A_ENST00000540947.2_Missense_Mutation_p.D330E|CES4A_ENST00000541479.1_Missense_Mutation_p.D353E			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	330						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TCCCAGATGACCCTTTGGTGC	0.512																																																0													232	229	230					16																	67038037		2041	4186	6227	SO:0001583	missense	283848			AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.990C>A	chr16.hg19:g.67038037C>A	ENSP00000314145:p.Asp330Glu		A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	hg19		.	.	.	.	.	.	.	.	.	.	c	1.498	-0.552834	0.03996	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	4.63	0.0898	0.14460	Carboxylesterase, type B (1);	0.569501	0.15610	N	0.253409	T	0.52773	0.1755	L	0.41415	1.275	0.09310	N	1	B;B;B;B	0.19331	0.023;0.004;0.02;0.035	B;B;B;B	0.28305	0.022;0.004;0.088;0.021	T	0.45977	-0.9224	10	0.49607	T	0.09	.	4.644	0.12563	0.0:0.4819:0.153:0.3651	.	236;353;330;353	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	E	330;353;353;330;330;293;232;236	ENSP00000444052:D330E;ENSP00000443175:D353E;ENSP00000340714:D353E;ENSP00000381397:D330E;ENSP00000314145:D330E;ENSP00000441103:D293E;ENSP00000441907:D232E;ENSP00000441644:D236E	ENSP00000314145:D330E	D	+	3	2	CES4A	65595538	0.000000	0.05858	0.009000	0.14445	0.083000	0.17756	-0.546000	0.06062	-0.221000	0.09973	0.486000	0.48141	GAC		0.512	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		A	67038037	C	A	67038037	3	1	294	1	0	0	0	0	1	0	0	0	3275	506	18	4	1105	4	CES8	16	67038037	Missense_Mutation	SNP	C	TCGA-B9-4115-01A-01D-1252-08	51321101	67038037	23316716	39	17465											
MYST2	11143	hgsc.bcm.edu	37	17	47869250	47869250	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr17:47869250G>T	ENST00000259021.4	+	2	298	c.18G>T	c.(16-18)agG>agT	p.R6S	KAT7_ENST00000509773.1_Missense_Mutation_p.R6S|FAM117A_ENST00000514018.1_5'Flank|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000510819.1_Missense_Mutation_p.R6S|KAT7_ENST00000424009.2_Missense_Mutation_p.R6S|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000454930.2_Missense_Mutation_p.R6S	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	6					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TATTACAGAGGAATGCAGGCA	0.423																																																0													148	136	140					17																	47869250		2203	4300	6503	SO:0001583	missense	11143			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.18G>T	chr17.hg19:g.47869250G>T	ENSP00000259021:p.Arg6Ser		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	hg19	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848691	0.51164	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009	.	.	.	5.6	2.52	0.30459	.	0.093201	0.64402	D	0.000001	T	0.63189	0.2490	L	0.48642	1.525	0.80722	D	1	D;D;D;B;P	0.54601	0.967;0.967;0.967;0.421;0.557	P;P;P;B;B	0.60789	0.879;0.879;0.879;0.058;0.124	T	0.62144	-0.6916	9	0.87932	D	0	-16.1716	9.2677	0.37652	0.3015:0.0:0.6985:0.0	.	6;6;6;6;6	B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;KAT7_HUMAN;.	S	6	.	ENSP00000259021:R6S	R	+	3	2	KAT7	45224249	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.877000	0.39598	0.295000	0.22570	-0.137000	0.14449	AGG		0.423	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		T	47869250	G	T	47869250	3	4	294	1	0	0	0	0	1	0	0	0	10105	1165	41	4	24	4	MYST2	17	47869250	Missense_Mutation	SNP	G	TCGA-B9-4115-01A-01D-1252-08		47869250	33325960	40	17466											
CEP192	55125	hgsc.bcm.edu	37	18	13049324	13049324	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr18:13049324delT	ENST00000325971.8	+	14	2339	c.746delT	c.(745-747)gttfs	p.V249fs	CEP192_ENST00000506447.1_Frame_Shift_Del_p.V845fs|CEP192_ENST00000430049.2_Frame_Shift_Del_p.V370fs			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	249					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGCTATTGTTTATGTTGAA	0.383																																																0													100	95	97					18																	13049324		2203	4300	6503	SO:0001589	frameshift_variant	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.746delT	chr18.hg19:g.13049324delT	ENSP00000317156:p.Val249fs		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Frame_Shift_Del	DEL	ENST00000325971.8	hg19																																																																																					0.383	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		-	13049324	T	-	13049324	7	5	294	1	0	1	0	1	0	0	0	0	3253	1725	60	0	2592	0	CEP192	18	13049324	Frame_Shift_Del	DEL	T	TCGA-B9-4115-01A-01D-1252-08		13049324	65027924	41	17467											
COX7A1	1346	hgsc.bcm.edu	37	19	36642400	36642402	+	In_Frame_Del	DEL	TGT	TGT	-	rs375983153		TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:36642400_36642402delTGT	ENST00000292907.3	-	3	610_612	c.149_151delACA	c.(148-153)aacatc>atc	p.N50del	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	50					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGTACAGGATGTTGTCAACGAT	0.626																																																0																																										SO:0001651	inframe_deletion	1346			BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.149_151delACA	chr19.hg19:g.36642403_36642405delTGT	ENSP00000292907:p.Asn50del			In_Frame_Del	DEL	ENST00000292907.3	hg19	CCDS12490.1																																																																																				0.626	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864		-	36642402	TGT	-	36642400	7	5	294	1	0	1	0	1	0	0	0	0	3781	1464	51	0	96	0	COX7A1	19	36642400	In_Frame_Del	DEL	TGT	TCGA-B9-4115-01A-01D-1252-08		36642400	22486583	42	17468											
ITPKC	80271	hgsc.bcm.edu	37	19	41223385	41223385	+	Silent	SNP	A	A	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:41223385A>T	ENST00000263370.2	+	1	378	c.345A>T	c.(343-345)ccA>ccT	p.P115P	ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000450541.1_5'Flank|ADCK4_ENST00000324464.3_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	115					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGACGGAGCCAGACAGGTCCA	0.597																																																0													51	58	56					19																	41223385		2202	4300	6502	SO:0001819	synonymous_variant	80271			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.345A>T	chr19.hg19:g.41223385A>T			Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	hg19	CCDS12563.1																																																																																				0.597	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		T	41223385	A	T	41223385	2	4	294	1	0	0	0	0	0	0	0	1	7921	175	7	5		5	ITPKC	19	41223385	Silent	SNP	A	TCGA-B9-4115-01A-01D-1252-08	4580985	41223385	17905598	43	17469											
ERF	2077	hgsc.bcm.edu	37	19	42752789	42752790	+	In_Frame_Ins	INS	-	-	AAA			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:42752789_42752790insAAA	ENST00000222329.4	-	4	1631_1632	c.1474_1475insTTT	c.(1474-1476)tgt>tTTTgt	p.491_492insF	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Ins_p.416_417insF	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	491					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TTCGAGGCGACAGTCTTCACTC	0.698																																																0																																										SO:0001652	inframe_insertion	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1474_1475insTTT	chr19.hg19:g.42752789_42752790insAAA	ENSP00000222329:p.Asp491_Cys492insPhe		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Ins	INS	ENST00000222329.4	hg19	CCDS12600.1																																																																																				0.698	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		AAA	42752790	-	AAA	42752789	7	5	294	1	0	1	1	0	0	0	0	0	5223	478	17	0	175	0	ERF	19	42752789	In_Frame_Ins	INS	-	TCGA-B9-4115-01A-01D-1252-08	1529404	42752789	16376194	44	17470											
ALDH16A1	126133	hgsc.bcm.edu	37	19	49971767	49971767	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:49971767A>T	ENST00000293350.4	+	15	2231	c.2068A>T	c.(2068-2070)Act>Tct	p.T690S	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.T525S|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.T527S|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.T639S|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	690						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTACGGCAACACTGTGGTCAT	0.687																																																0													123	129	127					19																	49971767		2203	4300	6503	SO:0001583	missense	126133			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2068A>T	chr19.hg19:g.49971767A>T	ENSP00000293350:p.Thr690Ser		B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	hg19	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	A	3.550	-0.091783	0.07053	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.37	-5.8	0.02347	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.561034	0.18181	N	0.149153	T	0.53899	0.1825	N	0.20845	0.615	0.09310	N	1	B;B;B	0.13145	0.003;0.007;0.004	B;B;B	0.17098	0.007;0.012;0.017	T	0.46748	-0.9169	10	0.13108	T	0.6	-7.5334	9.9685	0.41738	0.1664:0.0:0.7061:0.1275	.	527;639;690	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	S	690;639;527;525	ENSP00000293350:T690S;ENSP00000410142:T639S;ENSP00000445088:T527S;ENSP00000398675:T525S	ENSP00000293350:T690S	T	+	1	0	ALDH16A1	54663579	0.000000	0.05858	0.003000	0.11579	0.071000	0.16799	-0.795000	0.04580	-0.972000	0.03559	0.397000	0.26171	ACT		0.687	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		T	49971767	A	T	49971767	3	4	294	1	0	0	0	0	1	0	0	0	488	159	6	5	2126	5	ALDH16A1	19	49971767	Missense_Mutation	SNP	A	TCGA-B9-4115-01A-01D-1252-08	7218978	49971767	9157216	45	17471											
ZNF134	7693	hgsc.bcm.edu	37	19	58131703	58131703	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:58131703C>A	ENST00000396161.5	+	3	526	c.216C>A	c.(214-216)caC>caA	p.H72Q	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGGGTACACACCATGGACTGA	0.493																																																0													108	104	105					19																	58131703		2041	4225	6266	SO:0001583	missense	7693			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.216C>A	chr19.hg19:g.58131703C>A	ENSP00000379464:p.His72Gln		Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	hg19	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322492	0.41096	.	.	ENSG00000213762	ENST00000418193;ENST00000396161	T	0.66995	-0.24	4.05	0.456	0.16655	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63153	0.2487	M	0.81682	2.555	0.09310	N	1	B	0.30211	0.273	B	0.28638	0.092	T	0.58719	-0.7587	9	0.87932	D	0	.	5.1641	0.15077	0.163:0.6473:0.0:0.1897	.	72	P52741	ZN134_HUMAN	Q	139;72	ENSP00000379464:H72Q	ENSP00000379464:H72Q	H	+	3	2	ZNF134	62823515	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	0.316000	0.19469	0.092000	0.17331	0.655000	0.94253	CAC		0.493	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		A	58131703	C	A	58131703	3	1	294	1	0	0	0	0	1	0	0	0	17729	506	18	4	222	4	ZNF134	19	58131703	Missense_Mutation	SNP	C	TCGA-B9-4115-01A-01D-1252-08	8159936	58131703	997280	46	17472											
HTATSF1	27336	hgsc.bcm.edu	37	X	135594033	135594033	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chrX:135594033A>T	ENST00000218364.4	+	9	2303	c.2129A>T	c.(2128-2130)gAg>gTg	p.E710V	HTATSF1_ENST00000535601.1_Missense_Mutation_p.E710V	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	710	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTTGATGAGGAGGAAGATTCC	0.458																																																0													221	193	203					X																	135594033		2203	4300	6503	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.2129A>T	chrX.hg19:g.135594033A>T	ENSP00000218364:p.Glu710Val		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	hg19	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	A	9.409	1.080079	0.20309	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.34667	1.35;1.35	2.64	2.64	0.31445	.	.	.	.	.	T	0.21227	0.0511	N	0.14661	0.345	0.09310	N	1	P	0.42757	0.789	B	0.38655	0.278	T	0.08006	-1.0743	9	0.87932	D	0	-2.0207	8.2917	0.31960	1.0:0.0:0.0:0.0	.	710	O43719	HTSF1_HUMAN	V	710;710;676	ENSP00000442699:E710V;ENSP00000218364:E710V	ENSP00000218364:E710V	E	+	2	0	HTATSF1	135421699	0.836000	0.29430	0.004000	0.12327	0.938000	0.57974	2.165000	0.42396	1.296000	0.44742	0.235000	0.17854	GAG		0.458	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		T	135594033	A	T	135594033	3	4	294	1	0	0	0	0	1	0	0	0	7435	304	11	5	2163	5	HTATSF1	23	135594033	Missense_Mutation	SNP	A	TCGA-B9-4115-01A-01D-1252-08		135594033	19676527	47	17473											
CA6	765	hgsc.bcm.edu	37	1	9009376	9009376	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:9009376delA	ENST00000377443.2	+	2	138	c.134delA	c.(133-135)cagfs	p.Q45fs	CA6_ENST00000377436.3_Frame_Shift_Del_p.Q45fs|CA6_ENST00000377442.2_Intron|CA6_ENST00000480186.3_Frame_Shift_Del_p.Q45fs|CA6_ENST00000476083.1_Intron	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	45					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TGTGGGGGCCAGAGACAGTCG	0.602																																																0													44	42	43					1																	9009376		2203	4300	6503	SO:0001589	frameshift_variant	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.134delA	chr1.hg19:g.9009376delA	ENSP00000366662:p.Gln45fs		E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Frame_Shift_Del	DEL	ENST00000377443.2	hg19	CCDS30578.1																																																																																				0.602	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			-	9009376	A	-	9009376	7	5	295	1	0	1	0	1	0	0	0	0	2523	188	7	0	140	0	CA6	1	9009376	Frame_Shift_Del	DEL	A	TCGA-B9-4116-01A-01D-1252-08		9009376	240241245	1	17474											
CLCN6	1185	hgsc.bcm.edu	37	1	11888206	11888206	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:11888206G>A	ENST00000346436.6	+	11	936	c.884G>A	c.(883-885)cGt>cAt	p.R295H	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.R295H|CLCN6_ENST00000376487.3_Missense_Mutation_p.R273H|CLCN6_ENST00000312413.6_Missense_Mutation_p.R295H	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	295					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AACTTCTTCCGTTCTGGGATT	0.483																																																0													224	231	229					1																	11888206		2203	4300	6503	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.884G>A	chr1.hg19:g.11888206G>A	ENSP00000234488:p.Arg295His		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	hg19	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415466	0.96092	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376492	D;D;D;D	0.94232	-3.36;-3.38;-3.38;-3.38	5.06	5.06	0.68205	Chloride channel, core (2);	0.048615	0.85682	D	0.000000	D	0.96046	0.8712	.	.	.	0.80722	D	1	D;D;D	0.76494	0.989;0.999;0.992	P;P;P	0.60117	0.459;0.869;0.594	D	0.96294	0.9216	9	0.66056	D	0.02	-10.0688	17.6173	0.88071	0.0:0.0:1.0:0.0	.	273;295;295	F8W9R3;P51797-3;P51797	.;.;CLCN6_HUMAN	H	295;295;273;295;295	ENSP00000308367:R295H;ENSP00000234488:R295H;ENSP00000365670:R273H;ENSP00000365679:R295H	ENSP00000308367:R295H	R	+	2	0	CLCN6	11810793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.625000	0.88918	0.655000	0.94253	CGT		0.483	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		A	11888206	G	A	11888206	3	1	295	1	0	0	0	0	1	0	0	0	3469	1145	40	1	936	1	CLCN6	1	11888206	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	2878830	11888206	237362415	2	17475											
FGR	2268	hgsc.bcm.edu	37	1	27943508	27943508	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:27943508G>A	ENST00000374005.3	-	7	830	c.542C>T	c.(541-543)tCc>tTc	p.S181F	FGR_ENST00000374004.1_Missense_Mutation_p.S181F|FGR_ENST00000399173.1_Missense_Mutation_p.S181F|FGR_ENST00000545953.1_Missense_Mutation_p.S115F	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	181	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GATGGACAGGGAGTAGGCACC	0.567																																																0													103	96	99					1																	27943508		2203	4300	6503	SO:0001583	missense	2268			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.542C>T	chr1.hg19:g.27943508G>A	ENSP00000363117:p.Ser181Phe		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	hg19	CCDS305.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328135	0.81690	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	4.38	4.38	0.52667	SH2 motif (5);	0.000000	0.56097	D	0.000031	D	0.95079	0.8406	H	0.98199	4.17	0.50813	D	0.999899	D	0.57571	0.98	P	0.50754	0.649	D	0.97122	0.9812	10	0.87932	D	0	.	16.3789	0.83431	0.0:0.0:1.0:0.0	.	181	P09769	FGR_HUMAN	F	181;115;181;181;181;181	ENSP00000363117:S181F;ENSP00000445302:S115F;ENSP00000382126:S181F;ENSP00000363116:S181F;ENSP00000363115:S181F;ENSP00000407670:S181F	ENSP00000363115:S181F	S	-	2	0	FGR	27816095	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.670000	0.68088	2.348000	0.79779	0.491000	0.48974	TCC		0.567	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		A	27943508	G	A	27943508	3	1	295	1	0	0	0	0	1	0	0	0	5876	1174	41	2	1075	2	FGR	1	27943508	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	16055302	27943508	221307113	3	17476											
PABPC4	8761	hgsc.bcm.edu	37	1	40038242	40038242	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:40038242delG	ENST00000372857.3	-	2	1002	c.210delC	c.(208-210)gacfs	p.D70fs	PABPC4_ENST00000372862.3_Frame_Shift_Del_p.D70fs|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000529216.1_5'Flank|PABPC4_ENST00000372858.3_Frame_Shift_Del_p.D70fs|PABPC4_ENST00000372856.3_Frame_Shift_Del_p.D70fs	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	70	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGTTCATGGTGTCCAAAGCCC	0.468																																																0													83	77	79					1																	40038242		2203	4300	6503	SO:0001589	frameshift_variant	8761			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.210delC	chr1.hg19:g.40038242delG	ENSP00000361948:p.Asp70fs		B1ANQ8|Q4VC03|Q6P0N3	Frame_Shift_Del	DEL	ENST00000372857.3	hg19	CCDS438.1																																																																																				0.468	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		-	40038242	G	-	40038242	7	5	295	1	0	1	0	1	0	0	0	0	11368	1368	48	0	1828	0	PABPC4	1	40038242	Frame_Shift_Del	DEL	G	TCGA-B9-4116-01A-01D-1252-08	12094734	40038242	209212379	4	17477	136	2									
PABPC4	8761	hgsc.bcm.edu	37	1	40038244	40038244	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:40038244C>A	ENST00000372857.3	-	2	1000	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	PABPC4_ENST00000372862.3_Missense_Mutation_p.D70Y|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000529216.1_5'Flank|PABPC4_ENST00000372858.3_Missense_Mutation_p.D70Y|PABPC4_ENST00000372856.3_Missense_Mutation_p.D70Y	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	70	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCATGGTGTCCAAAGCCCGC	0.463																																																0													81	75	77					1																	40038244		2203	4300	6503	SO:0001583	missense	8761			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.208G>T	chr1.hg19:g.40038244C>A	ENSP00000361948:p.Asp70Tyr		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	hg19	CCDS438.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994504	0.93167	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856;ENST00000451091	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.69	5.69	0.88448	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.76575	0.964;0.988;0.924	T	0.05649	-1.0872	10	0.87932	D	0	.	19.8057	0.96531	0.0:1.0:0.0:0.0	.	70;70;70	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	Y	70	ENSP00000361953:D70Y;ENSP00000361949:D70Y;ENSP00000361948:D70Y;ENSP00000361947:D70Y;ENSP00000406675:D70Y	ENSP00000361947:D70Y	D	-	1	0	PABPC4	39810831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.705000	0.84606	2.682000	0.91365	0.655000	0.94253	GAC		0.463	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		A	40038244	C	A	40038244	3	1	295	1	0	0	0	0	1	0	0	0	11368	855	30	4	1830	4	PABPC4	1	40038244	Missense_Mutation	SNP	C	TCGA-B9-4116-01A-01D-1252-08	2	40038244	209212377	5	17478	136	2									
CACNA1S	779	hgsc.bcm.edu	37	1	201039482	201039482	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:201039482G>A	ENST00000362061.3	-	17	2504	c.2278C>T	c.(2278-2280)Ccc>Tcc	p.P760S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P760S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	760					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGCCAGGGGACGTGGTCGG	0.587																																																0													70	75	73					1																	201039482		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2278C>T	chr1.hg19:g.201039482G>A	ENSP00000355192:p.Pro760Ser		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	hg19	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105070	0.56291	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95821	-3.82;-3.73	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.97492	0.9179	M	0.79805	2.47	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.97283	0.9919	10	0.37606	T	0.19	.	16.8708	0.86040	0.0:0.0:1.0:0.0	.	760	Q13698	CAC1S_HUMAN	S	760	ENSP00000355192:P760S;ENSP00000356307:P760S	ENSP00000355192:P760S	P	-	1	0	CACNA1S	199306105	1.000000	0.71417	0.292000	0.24919	0.289000	0.27227	7.945000	0.87732	2.032000	0.59987	0.643000	0.83706	CCC		0.587	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201039482	G	A	201039482	3	1	295	1	0	0	0	0	1	0	0	0	2549	1174	41	2	3455	2	CACNA1S	1	201039482	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	161001238	201039482	48211139	6	17479											
MYCN	4613	hgsc.bcm.edu	37	2	16086058	16086058	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr2:16086058G>C	ENST00000281043.3	+	3	1531	c.1234G>C	c.(1234-1236)Gta>Cta	p.V412L		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	412	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCCGGAGTTGGTAAAGAATGA	0.572			A		neuroblastoma																																		Dom	yes		2	2p24.1	4613	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"		O	0													90	100	97					2																	16086058		2203	4300	6503	SO:0001583	missense	4613			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1234G>C	chr2.hg19:g.16086058G>C	ENSP00000281043:p.Val412Leu		Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	hg19	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959315	0.53400	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.97976	-4.64	5.14	4.26	0.50523	Helix-loop-helix DNA-binding (5);	0.515918	0.19319	N	0.117200	D	0.94535	0.8240	L	0.27053	0.805	0.39651	D	0.970461	P	0.40144	0.704	B	0.40864	0.342	D	0.93971	0.7249	10	0.56958	D	0.05	-13.1384	10.2421	0.43319	0.1524:0.0:0.8476:0.0	.	412	P04198	MYCN_HUMAN	L	412;330	ENSP00000281043:V412L	ENSP00000281043:V412L	V	+	1	0	MYCN	16003509	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.154000	0.58125	1.331000	0.45412	-0.192000	0.12808	GTA		0.572	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		C	16086058	G	C	16086058	3	2	295	1	0	0	0	0	1	0	0	0	10023	1261	44	4	1240	4	MYCN	2	16086058	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08		16086058	227113315	7	17480											
LCLAT1	253558	hgsc.bcm.edu	37	2	30863165	30863173	+	In_Frame_Del	DEL	GAAGAGAAA	GAAGAGAAA	-	rs200693287|rs150085223	byFrequency	TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	GAAGAGAAA	GAAGAGAAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr2:30863165_30863173delGAAGAGAAA	ENST00000309052.4	+	7	1134_1142	c.925_933delGAAGAGAAA	c.(925-933)gaagagaaadel	p.EEK309del	LCLAT1_ENST00000540623.1_In_Frame_Del_p.EEK271del|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_In_Frame_Del_p.EEK271del	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	309					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CAAACGGTGGGAAGAGAAAGAAGAGAGGC	0.498																																																0																																										SO:0001651	inframe_deletion	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.925_933delGAAGAGAAA	chr2.hg19:g.30863165_30863173delGAAGAGAAA	ENSP00000310551:p.Glu309_Lys311del		A6H8Z7|Q8N1Q7	In_Frame_Del	DEL	ENST00000309052.4	hg19	CCDS1772.1																																																																																				0.498	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		-	30863173	GAAGAGAAA	-	30863165	7	5	295	1	0	1	0	1	0	0	0	0	8679	1175	41	0	947	0	LCLAT1	2	30863165	In_Frame_Del	DEL	GAAGAGAAA	TCGA-B9-4116-01A-01D-1252-08	14777107	30863165	212336208	8	17481											
MAT2A	4144	hgsc.bcm.edu	37	2	85769094	85769097	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	AAGT	AAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr2:85769094_85769097delAAGT	ENST00000306434.3	+	5	671_672	c.548_549delAAGT	c.(547-549)caa>c	p.Q183fs	MAT2A_ENST00000490878.1_3'UTR|MAT2A_ENST00000409017.1_Splice_Site_p.Q120fs	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	183					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTAAAACTCAAGTAAGTGATGAT	0.382																																																0																																										SO:0001630	splice_region_variant	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.549+1AAGT>-	chr2.hg19:g.85769098_85769101delAAGT			A8K511|B4DN45|D6W5L1|Q53SP5	In_Frame_Del	DEL	ENST00000306434.3	hg19	CCDS1977.1																																																																																				0.382	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911	Frame_Shift_Del	-	85769097	AAGT	-	85769094	8	5	295	1	0	1	0	1	0	0	1	0	9332	144	5	0	566	0	MAT2A	2	85769094	Splice_Site	DEL	AAGT	TCGA-B9-4116-01A-01D-1252-08	54905929	85769094	157430279	9	17482											
FAM128A	653784	hgsc.bcm.edu	37	2	132249519	132249520	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr2:132249519_132249520insA	ENST00000309451.6	-	2	293_294	c.248_249insT	c.(247-249)cagfs	p.Q83fs	AC093838.4_ENST00000438378.2_RNA|MZT2A_ENST00000410036.2_5'UTR|MIR4784_ENST00000579560.1_RNA	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	83						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				breast(1)|lung(1)	2						TCGCTAGCCTCTGCCCGGCACA	0.703																																																0																																										SO:0001589	frameshift_variant	653784			BC018206	CCDS42758.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000173272	ENSG00000173272			33187	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A"	613449	"family with sequence similarity 128, member A"	FAM128A		20360068	Standard	NM_001085365		Approved	MOZART2A	uc002tsw.4	Q6P582	OTTHUMG00000153606	ENST00000309451.6:c.248_249insT	chr2.hg19:g.132249519_132249520insA	ENSP00000311500:p.Gln83fs		Q3SWV8|Q8WVB2	Frame_Shift_Ins	INS	ENST00000309451.6	hg19	CCDS42758.1																																																																																				0.703	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2			A	132249520	-	A	132249519	7	5	295	1	0	1	1	0	0	0	0	0	5436	912	32	0	235	0	FAM128A	2	132249519	Frame_Shift_Ins	INS	-	TCGA-B9-4116-01A-01D-1252-08	46480425	132249519	110949854	10	17483											
C2orf80	389073	hgsc.bcm.edu	37	2	209045533	209045533	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr2:209045533A>C	ENST00000341287.4	-	6	497	c.302T>G	c.(301-303)aTc>aGc	p.I101S	C2orf80_ENST00000453017.1_Missense_Mutation_p.I101S|C2orf80_ENST00000451346.1_Missense_Mutation_p.I82S	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	101										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CTCAATCGGGATACTGTTCTG	0.363																																																0													98	92	94					2																	209045533		1810	4083	5893	SO:0001583	missense	389073			AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"gonad development associated 1"	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.302T>G	chr2.hg19:g.209045533A>C	ENSP00000343171:p.Ile101Ser		A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	hg19	CCDS42809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.20|14.20	2.465820|2.465820	0.43839|0.43839	.|.	.|.	ENSG00000188674|ENSG00000188674	ENST00000451342;ENST00000341287;ENST00000451346;ENST00000453017;ENST00000423952|ENST00000428015	T;T;T;T;T|.	0.54866|.	1.04;1.51;1.46;0.55;1.02|.	4.67|4.67	3.47|3.47	0.39725|0.39725	.|.	0.384012|.	0.22416|.	N|.	0.060357|.	T|.	0.33381|.	0.0861|.	L|L	0.32530|0.32530	0.975|0.975	0.28843|0.28843	N|N	0.896464|0.896464	B|.	0.29646|.	0.253|.	B|.	0.33799|.	0.17|.	T|.	0.22068|.	-1.0227|.	10|.	0.87932|.	D|.	0|.	-4.0257|-4.0257	7.2927|7.2927	0.26374|0.26374	0.8979:0.0:0.1021:0.0|0.8979:0.0:0.1021:0.0	.|.	101|.	Q0P641|.	CB080_HUMAN|.	S|X	26;101;82;101;14|52	ENSP00000389385:I26S;ENSP00000343171:I101S;ENSP00000405393:I82S;ENSP00000397144:I101S;ENSP00000413016:I14S|.	ENSP00000343171:I101S|.	I|Y	-|-	2|3	0|2	C2orf80|C2orf80	208753778|208753778	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.941000|0.941000	0.58515|0.58515	2.253000|2.253000	0.43205|0.43205	0.883000|0.883000	0.36040|0.36040	0.455000|0.455000	0.32223|0.32223	ATC|TAT		0.363	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		C	209045533	A	C	209045533	3	2	295	1	0	0	0	0	1	0	0	0	2199	333	12	5	295	5	C2orf80	2	209045533	Missense_Mutation	SNP	A	TCGA-B9-4116-01A-01D-1252-08	76796014	209045533	34153840	11	17484											
MON1A	84315	hgsc.bcm.edu	37	3	49946456	49946456	+	Silent	SNP	G	G	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:49946456G>A	ENST00000417270.1	-	7	2376	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	MON1A_ENST00000483022.1_5'Flank|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Silent_p.L488L|MON1A_ENST00000296473.3_Silent_p.L650L			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	553										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATCAATAGGTGAGGGGCGTGA	0.607																																																0													48	43	45					3																	49946456		2203	4300	6503	SO:0001819	synonymous_variant	84315			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1683C>T	chr3.hg19:g.49946456G>A			B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Silent	SNP	ENST00000417270.1	hg19																																																																																					0.607	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		A	49946456	G	A	49946456	2	1	295	1	0	0	0	0	0	0	0	1	9700	1277	45	2		2	MON1A	3	49946456	Silent	SNP	G	TCGA-B9-4116-01A-01D-1252-08		49946456	148075974	12	17485											
TMF1	7110	hgsc.bcm.edu	37	3	69096707	69096707	+	Silent	SNP	T	T	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:69096707T>C	ENST00000398559.2	-	2	1365	c.1149A>G	c.(1147-1149)acA>acG	p.T383T	MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Silent_p.T383T|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	383					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTATAACTAATGTTTCATTTA	0.383																																																0													129	121	123					3																	69096707		1871	4109	5980	SO:0001819	synonymous_variant	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1149A>G	chr3.hg19:g.69096707T>C			B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	hg19	CCDS43105.1																																																																																				0.383	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		C	69096707	T	C	69096707	2	2	295	1	0	0	0	0	0	0	0	1	16233	1451	51	3		3	TMF1	3	69096707	Silent	SNP	T	TCGA-B9-4116-01A-01D-1252-08	19150251	69096707	128925723	13	17486											
ZBTB11	27107	hgsc.bcm.edu	37	3	101370247	101370247	+	Missense_Mutation	SNP	T	T	G	rs374150569		TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:101370247T>G	ENST00000312938.4	-	11	3505	c.2925A>C	c.(2923-2925)caA>caC	p.Q975H		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	975					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACTGCTTTCTTGTTCCTGCA	0.448																																																0													202	171	181					3																	101370247		2203	4300	6503	SO:0001583	missense	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2925A>C	chr3.hg19:g.101370247T>G	ENSP00000326200:p.Gln975His		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	hg19	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652999	0.67472	.	.	ENSG00000066422	ENST00000312938	T	0.12672	2.66	5.49	-2.58	0.06228	.	0.060521	0.64402	D	0.000003	T	0.10252	0.0251	N	0.24115	0.695	0.80722	D	1	D	0.62365	0.991	P	0.51999	0.687	T	0.20874	-1.0262	10	0.02654	T	1	-14.7598	12.7952	0.57556	0.0:0.4538:0.0:0.5462	.	975	O95625	ZBT11_HUMAN	H	975	ENSP00000326200:Q975H	ENSP00000326200:Q975H	Q	-	3	2	ZBTB11	102852937	0.931000	0.31567	0.982000	0.44146	0.882000	0.50991	-0.067000	0.11579	-0.456000	0.07043	0.454000	0.30748	CAA		0.448	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		G	101370247	T	G	101370247	3	3	295	1	0	0	0	0	1	0	0	0	17529	1606	56	5	240	5	ZBTB11	3	101370247	Missense_Mutation	SNP	T	TCGA-B9-4116-01A-01D-1252-08	32273540	101370247	96652183	14	17487											
PVRL3	25945	hgsc.bcm.edu	37	3	110830989	110830989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:110830989G>A	ENST00000485303.1	+	2	548	c.273G>A	c.(271-273)tgG>tgA	p.W91*	PVRL3_ENST00000493615.1_Nonsense_Mutation_p.W68*|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Nonsense_Mutation_p.W91*	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	91	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AGATTTCATGGGAGAAGATAC	0.378																																																0													79	75	77					3																	110830989		2203	4300	6503	SO:0001587	stop_gained	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.273G>A	chr3.hg19:g.110830989G>A	ENSP00000418070:p.Trp91*		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Nonsense_Mutation	SNP	ENST00000485303.1	hg19	CCDS2957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.619371|5.619371	0.96649|0.96649	.|.	.|.	ENSG00000177707|ENSG00000177707	ENST00000486596|ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.45875|.	0.1364|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38001|.	-0.9681|.	3|.	.|0.02654	.|T	.|1	.|.	17.649|17.649	0.88157|0.88157	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	91|44;91;91;68;76	.|.	.|ENSP00000321514:W91X	G|W	+|+	1|3	0|0	PVRL3|PVRL3	112313679|112313679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.517000|8.517000	0.90555|0.90555	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.378	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		A	110830989	G	A	110830989	4	1	295	1	0	0	0	0	0	1	0	0	12847	1241	43	2	279	2	PVRL3	3	110830989	Nonsense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	9460742	110830989	87191441	15	17488											
C3orf17	25871	hgsc.bcm.edu	37	3	112736366	112736368	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	CAT	CAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:112736366_112736368delCAT	ENST00000314400.5	-	2	379_381	c.188_190delATG	c.(187-192)gatgtg>gtg	p.D63del	RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000460707.1_RNA|C3orf17_ENST00000383675.2_In_Frame_Del_p.D63del|C3orf17_ENST00000393857.2_Intron|RP11-572M11.4_ENST00000470313.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	63					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GCACATAACACATCTGTTTCTGC	0.478																																																0																																										SO:0001651	inframe_deletion	25871			AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.188_190delATG	chr3.hg19:g.112736366_112736368delCAT	ENSP00000320251:p.Asp63del		D3DN69|Q68DM6|Q9H7U0|Q9UFM4	In_Frame_Del	DEL	ENST00000314400.5	hg19	CCDS33824.1																																																																																				0.478	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		-	112736368	CAT	-	112736366	7	5	295	1	0	1	0	1	0	0	0	0	2212	478	17	0	1545	0	C3orf17	3	112736366	In_Frame_Del	DEL	CAT	TCGA-B9-4116-01A-01D-1252-08	1905377	112736366	85286064	16	17489											
PIGZ	80235	hgsc.bcm.edu	37	3	196675120	196675120	+	Silent	SNP	A	A	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:196675120A>T	ENST00000412723.1	-	3	794	c.648T>A	c.(646-648)ctT>ctA	p.L216L	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	216					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CAATGCCTCCAAGAAGCCAGC	0.637																																																0													59	67	64					3																	196675120		2203	4299	6502	SO:0001819	synonymous_variant	80235			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.648T>A	chr3.hg19:g.196675120A>T			Q9H9G6	Silent	SNP	ENST00000412723.1	hg19	CCDS3324.1																																																																																				0.637	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		T	196675120	A	T	196675120	2	4	295	1	0	0	0	0	0	0	0	1	11907	117	5	5		5	PIGZ	3	196675120	Silent	SNP	A	TCGA-B9-4116-01A-01D-1252-08	83938754	196675120	1347310	17	17490											
RFC1	5981	hgsc.bcm.edu	37	4	39325032	39325032	+	Silent	SNP	C	C	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr4:39325032C>T	ENST00000381897.1	-	7	781	c.648G>A	c.(646-648)gaG>gaA	p.E216E	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Silent_p.E216E	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	216					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCAACTGCCTCTCCAGCTGTA	0.373																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											0													149	124	132					4																	39325032		2203	4300	6503	SO:0001819	synonymous_variant	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.648G>A	chr4.hg19:g.39325032C>T			A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	ENST00000381897.1	hg19	CCDS56329.1																																																																																				0.373	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		T	39325032	C	T	39325032	2	4	295	1	0	0	0	0	0	0	0	1	13250	912	32	2		2	RFC1	4	39325032	Silent	SNP	C	TCGA-B9-4116-01A-01D-1252-08		39325032	151829244	18	17491											
UGT2B7	7364	hgsc.bcm.edu	37	4	69968643	69968643	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr4:69968643A>T	ENST00000508661.1	+	3	1016	c.989A>T	c.(988-990)cAg>cTg	p.Q330L	UGT2B7_ENST00000305231.7_Missense_Mutation_p.Q330L|UGT2B7_ENST00000509763.1_3'UTR			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	330					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCCCTGGCCCAGATCCCACAA	0.428																																																0													173	167	169					4																	69968643		2203	4300	6503	SO:0001583	missense	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.989A>T	chr4.hg19:g.69968643A>T	ENSP00000427659:p.Gln330Leu		B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	hg19		.	.	.	.	.	.	.	.	.	.	A	7.768	0.706788	0.15239	.	.	ENSG00000171234	ENST00000502942;ENST00000305231;ENST00000508661	T;T;T	0.61158	0.13;0.13;0.13	3.0	1.8	0.24995	.	0.000000	0.64402	U	0.000001	T	0.75125	0.3807	M	0.93898	3.47	0.22961	N	0.998502	P;P	0.47545	0.875;0.897	P;P	0.59424	0.857;0.657	T	0.66097	-0.6008	9	.	.	.	.	6.2555	0.20872	0.8699:0.0:0.1301:0.0	.	330;330	E9PBP8;P16662	.;UD2B7_HUMAN	L	81;330;330	ENSP00000426206:Q81L;ENSP00000304811:Q330L;ENSP00000427659:Q330L	.	Q	+	2	0	UGT2B7	70003232	1.000000	0.71417	0.097000	0.21041	0.105000	0.19272	6.429000	0.73387	0.370000	0.24538	0.477000	0.44152	CAG		0.428	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		T	69968643	A	T	69968643	3	4	295	1	0	0	0	0	1	0	0	0	16967	188	7	5	999	5	UGT2B7	4	69968643	Missense_Mutation	SNP	A	TCGA-B9-4116-01A-01D-1252-08	30643611	69968643	121185633	19	17492											
ANTXR2	118429	hgsc.bcm.edu	37	4	80992809	80992809	+	Splice_Site	SNP	C	C	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr4:80992809C>A	ENST00000307333.7	-	2	155		c.e2-1		ANTXR2_ENST00000295465.4_Splice_Site|ANTXR2_ENST00000346652.6_Splice_Site|ANTXR2_ENST00000403729.2_Splice_Site|ANTXR2_ENST00000404191.1_Splice_Site	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2						reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						ACTCCCAGACCTGAAAGATGA	0.383									Juvenile Hyaline Fibromatosis																																							0													71	71	71					4																	80992809		1839	4093	5932	SO:0001630	splice_region_variant	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.153-1G>T	chr4.hg19:g.80992809C>A			Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Splice_Site	SNP	ENST00000307333.7	hg19	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826045	0.50739	.	.	ENSG00000163297	ENST00000403729;ENST00000346652;ENST00000307333;ENST00000295465	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5222	0.84320	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANTXR2	81211833	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.415000	0.66411	2.642000	0.89623	0.563000	0.77884	.		0.383	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172	Intron	A	80992809	C	A	80992809	5	1	295	1	0	0	0	0	0	0	1	0	712	695	24	4	1420	4	ANTXR2	4	80992809	Splice_Site	SNP	C	TCGA-B9-4116-01A-01D-1252-08	11024166	80992809	110161467	20	17493											
C4orf37	285555	hgsc.bcm.edu	37	4	98865112	98865112	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr4:98865112T>G	ENST00000295268.3	-	8	1069	c.980A>C	c.(979-981)aAc>aCc	p.N327T		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	327																	GTTAGTCAAGTTAGGTAATTC	0.323																																																0													130	127	128					4																	98865112		2203	4300	6503	SO:0001583	missense	285555			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.980A>C	chr4.hg19:g.98865112T>G	ENSP00000295268:p.Asn327Thr			Missense_Mutation	SNP	ENST00000295268.3	hg19	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	T	4.606	0.112544	0.08831	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.48201	0.82;2.71	4.0	4.0	0.46444	.	1.315340	0.04739	N	0.422540	T	0.38878	0.1057	L	0.29908	0.895	0.25587	N	0.986734	B	0.33694	0.421	B	0.29862	0.108	T	0.32375	-0.9909	10	0.59425	D	0.04	-9.3556	9.6357	0.39806	0.0:0.0:0.0:1.0	.	327	Q8N412	CD037_HUMAN	T	41;327	ENSP00000428346:N41T;ENSP00000295268:N327T	ENSP00000295268:N327T	N	-	2	0	C4orf37	99084135	0.997000	0.39634	0.663000	0.29738	0.803000	0.45373	2.716000	0.47219	2.041000	0.60428	0.456000	0.33151	AAC		0.323	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		G	98865112	T	G	98865112	3	3	295	1	0	0	0	0	1	0	0	0	2269	1725	60	5	415	5	C4orf37	4	98865112	Missense_Mutation	SNP	T	TCGA-B9-4116-01A-01D-1252-08	17872303	98865112	92289164	21	17494											
NPY2R	4887	hgsc.bcm.edu	37	4	156136059	156136059	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr4:156136059T>G	ENST00000329476.3	+	2	1457	c.968T>G	c.(967-969)cTt>cGt	p.L323R	NPY2R_ENST00000506608.1_Missense_Mutation_p.L323R	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	323					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GCCAATCCCCTTCTCTATGGC	0.527																																																0													116	97	103					4																	156136059		2203	4300	6503	SO:0001583	missense	4887			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.968T>G	chr4.hg19:g.156136059T>G	ENSP00000332591:p.Leu323Arg		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	hg19	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979528	0.74360	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.56275	0.47;0.47	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.285408	0.32970	N	0.005436	T	0.78342	0.4268	M	0.93939	3.475	0.80722	D	1	P	0.51240	0.943	D	0.63113	0.911	D	0.84029	0.0358	10	0.72032	D	0.01	.	15.2138	0.73247	0.0:0.0:0.0:1.0	.	323	P49146	NPY2R_HUMAN	R	323	ENSP00000332591:L323R;ENSP00000426366:L323R	ENSP00000332591:L323R	L	+	2	0	NPY2R	156355509	0.998000	0.40836	0.885000	0.34714	0.928000	0.56348	8.040000	0.89188	2.189000	0.69895	0.523000	0.50628	CTT		0.527	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		G	156136059	T	G	156136059	3	3	295	1	0	0	0	0	1	0	0	0	10611	1609	56	5	970	5	NPY2R	4	156136059	Missense_Mutation	SNP	T	TCGA-B9-4116-01A-01D-1252-08	57270947	156136059	35018217	22	17495											
CDH9	1007	hgsc.bcm.edu	37	5	26906161	26906161	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr5:26906161C>T	ENST00000231021.4	-	5	890	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D240N(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCACCCATGTCTTTGGCCTGT	0.448																																					Melanoma(8;187 585 15745 40864 52829)											1	Substitution - Missense(1)	lung(1)											232	208	216					5																	26906161		2203	4300	6503	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.718G>A	chr5.hg19:g.26906161C>T	ENSP00000231021:p.Asp240Asn		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	hg19	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553655	0.96501	.	.	ENSG00000113100	ENST00000231021	T	0.79940	-1.32	5.6	5.6	0.85130	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92548	0.7633	M	0.93939	3.475	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.93866	0.7158	9	.	.	.	.	18.5289	0.90984	0.0:1.0:0.0:0.0	.	240	Q9ULB4	CADH9_HUMAN	N	240	ENSP00000231021:D240N	.	D	-	1	0	CDH9	26941918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.802000	0.96397	0.650000	0.86243	GAC		0.448	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26906161	C	T	26906161	3	4	295	1	0	0	0	0	1	0	0	0	3119	913	32	2	1683	2	CDH9	5	26906161	Missense_Mutation	SNP	C	TCGA-B9-4116-01A-01D-1252-08		26906161	154009099	23	17496											
ANKHD1	54882	hgsc.bcm.edu	37	5	139908303	139908303	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr5:139908303G>C	ENST00000360839.2	+	29	5926	c.5772G>C	c.(5770-5772)gaG>gaC	p.E1924D	ANKHD1_ENST00000544120.1_Missense_Mutation_p.E307D|SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1924D|ANKHD1_ENST00000297183.6_Missense_Mutation_p.E1924D	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1924						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCCTCAGAGTCTGCTGGAC	0.488																																																0													81	77	78					5																	139908303		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5772G>C	chr5.hg19:g.139908303G>C	ENSP00000354085:p.Glu1924Asp		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	hg19	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.835|9.835	1.189371|1.189371	0.21954|0.21954	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T;T|.	0.65916|.	-0.14;-0.18;1.89;1.89;1.48;-0.18|.	4.98|4.98	1.47|1.47	0.22746|0.22746	.|.	0.238205|.	0.41396|.	D|.	0.000887|.	T|T	0.33789|0.33789	0.0875|0.0875	L|L	0.34521|0.34521	1.04|1.04	0.25479|0.25479	N|N	0.987752|0.987752	B;P;B;P;B;B|.	0.42409|.	0.184;0.779;0.28;0.462;0.231;0.231|.	B;B;B;B;B;B|.	0.35510|.	0.055;0.204;0.118;0.121;0.054;0.054|.	T|T	0.25152|0.25152	-1.0140|-1.0140	10|5	0.19590|.	T|.	0.45|.	.|.	8.8813|8.8813	0.35376|0.35376	0.3024:0.0:0.6976:0.0|0.3024:0.0:0.6976:0.0	.|.	307;354;307;1924;1924;1924|.	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;.;ANKH1_HUMAN|.	D|L	1924;1924;1924;580;359;446;307;1924|415;375	ENSP00000354085:E1924D;ENSP00000297183:E1924D;ENSP00000393204:E580D;ENSP00000390034:E446D;ENSP00000437687:E307D;ENSP00000432016:E1924D|.	ENSP00000432016:E1924D|.	E|V	+|+	3|1	2|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139888487|139888487	0.997000|0.997000	0.39634|0.39634	0.996000|0.996000	0.52242|0.52242	0.985000|0.985000	0.73830|0.73830	0.224000|0.224000	0.17738|0.17738	0.419000|0.419000	0.25927|0.25927	0.650000|0.650000	0.86243|0.86243	GAG|GTC		0.488	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		C	139908303	G	C	139908303	3	2	295	1	0	0	0	0	1	0	0	0	628	1020	36	4	5992	4	ANKHD1	5	139908303	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	113002142	139908303	41006957	24	17497											
MED7	9443	hgsc.bcm.edu	37	5	156565887	156565887	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr5:156565887T>G	ENST00000286317.5	-	2	937	c.556A>C	c.(556-558)Act>Cct	p.T186P	MED7_ENST00000420343.1_Missense_Mutation_p.T186P	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	186					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTGGTTCAGTTTTTACTCTC	0.373																																																0													170	159	163					5																	156565887		2203	4300	6503	SO:0001583	missense	9443			AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.556A>C	chr5.hg19:g.156565887T>G	ENSP00000286317:p.Thr186Pro			Missense_Mutation	SNP	ENST00000286317.5	hg19	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291433	0.40494	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.81	1.99	0.26369	.	0.426120	0.27048	N	0.021196	T	0.36248	0.0960	L	0.52573	1.65	0.35094	D	0.764574	P	0.45634	0.863	B	0.41271	0.352	T	0.40327	-0.9569	9	0.27082	T	0.32	-13.3431	5.9577	0.19283	0.1123:0.1921:0.0:0.6956	.	186	O43513	MED7_HUMAN	P	186	.	ENSP00000286317:T186P	T	-	1	0	MED7	156498465	0.995000	0.38212	0.985000	0.45067	0.991000	0.79684	0.479000	0.22228	0.098000	0.17522	0.533000	0.62120	ACT		0.373	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		G	156565887	T	G	156565887	3	3	295	1	0	0	0	0	1	0	0	0	9454	1725	60	5	149	5	MED7	5	156565887	Missense_Mutation	SNP	T	TCGA-B9-4116-01A-01D-1252-08	16657584	156565887	24349373	25	17498											
SLC22A16	85413	hgsc.bcm.edu	37	6	110757106	110757106	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr6:110757106G>A	ENST00000368919.3	-	6	1436	c.1370C>T	c.(1369-1371)gCa>gTa	p.A457V	SLC22A16_ENST00000330550.4_Missense_Mutation_p.A423V|SLC22A16_ENST00000439654.1_Missense_Mutation_p.A457V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	457					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GAGGCCAAATGCTGCCCCGAT	0.363																																																0													102	99	100					6																	110757106		2203	4300	6503	SO:0001583	missense	85413				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1370C>T	chr6.hg19:g.110757106G>A	ENSP00000357915:p.Ala457Val		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	hg19	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095193	0.56075	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	4.75	0.519	0.17035	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.355691	0.31809	N	0.007039	T	0.81814	0.4902	L	0.56124	1.755	0.80722	D	1	B;B	0.31413	0.322;0.275	B;B	0.37550	0.253;0.164	T	0.76924	-0.2779	10	0.72032	D	0.01	.	8.3956	0.32555	0.3527:0.0:0.6473:0.0	.	457;423	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	V	457;374;423;457	ENSP00000357915:A457V;ENSP00000395642:A374V;ENSP00000328583:A423V;ENSP00000408799:A457V	ENSP00000328583:A423V	A	-	2	0	SLC22A16	110863799	0.999000	0.42202	0.000000	0.03702	0.591000	0.36615	2.826000	0.48104	-0.101000	0.12219	-0.339000	0.08088	GCA		0.363	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		A	110757106	G	A	110757106	3	1	295	1	0	0	0	0	1	0	0	0	14453	1319	46	2	375	2	SLC22A16	6	110757106	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08		110757106	60357961	26	17499											
SYNJ2	8871	hgsc.bcm.edu	37	6	158449969	158449969	+	Silent	SNP	A	A	T	rs140060886		TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr6:158449969A>T	ENST00000355585.4	+	3	471	c.396A>T	c.(394-396)tcA>tcT	p.S132S	SYNJ2_ENST00000449859.2_Silent_p.S81S|SYNJ2_ENST00000367122.2_Silent_p.S132S|SYNJ2_ENST00000367121.3_Silent_p.S132S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	132	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTATTTCTCATGGCCAAACG	0.542																																																0													66	67	66					6																	158449969		2203	4300	6503	SO:0001819	synonymous_variant	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.396A>T	chr6.hg19:g.158449969A>T			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	hg19	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	A	4.185	0.032976	0.08101	.	.	ENSG00000078269	ENST00000367113	.	.	.	4.62	-9.25	0.00666	.	.	.	.	.	T	0.35219	0.0924	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68868	-0.5295	4	.	.	.	.	9.0699	0.36486	0.2544:0.577:0.1011:0.0675	.	.	.	.	L	107	.	.	H	+	2	0	SYNJ2	158369957	0.008000	0.16893	0.903000	0.35520	0.321000	0.28281	-1.071000	0.03437	1.946000	0.56461	0.533000	0.62120	CAT		0.542	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			T	158449969	A	T	158449969	2	4	295	1	0	0	0	0	0	0	0	1	15458	204	8	5		5	SYNJ2	6	158449969	Silent	SNP	A	TCGA-B9-4116-01A-01D-1252-08	47692863	158449969	12665098	27	17500											
NOD1	10392	hgsc.bcm.edu	37	7	30475651	30475651	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:30475651T>A	ENST00000222823.4	-	11	3109	c.2584A>T	c.(2584-2586)Agg>Tgg	p.R862W		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	862					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGCAGGGCCCTCGCAAGGCTC	0.443																																																0													129	106	114					7																	30475651		2203	4300	6503	SO:0001583	missense	10392			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2584A>T	chr7.hg19:g.30475651T>A	ENSP00000222823:p.Arg862Trp		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	hg19	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	T	8.038	0.763254	0.15914	.	.	ENSG00000106100	ENST00000222823	T	0.55052	0.54	5.12	-1.83	0.07833	.	0.871180	0.09788	N	0.755710	T	0.39145	0.1067	L	0.49126	1.545	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36866	-0.9730	10	0.62326	D	0.03	.	1.2857	0.02050	0.1549:0.2137:0.3025:0.3289	.	862	Q9Y239	NOD1_HUMAN	W	862	ENSP00000222823:R862W	ENSP00000222823:R862W	R	-	1	2	NOD1	30442176	0.008000	0.16893	0.000000	0.03702	0.092000	0.18411	0.609000	0.24238	-0.810000	0.04375	-0.313000	0.08912	AGG		0.443	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			A	30475651	T	A	30475651	3	1	295	1	0	0	0	0	1	0	0	0	10518	1550	54	5	293	5	NOD1	7	30475651	Missense_Mutation	SNP	T	TCGA-B9-4116-01A-01D-1252-08		30475651	128663012	28	17501											
EIF4H	7458	hgsc.bcm.edu	37	7	73601993	73601993	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:73601993A>G	ENST00000265753.8	+	2	251	c.112A>G	c.(112-114)Aca>Gca	p.T38A	EIF4H_ENST00000353999.6_Missense_Mutation_p.T38A|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	38					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GGAGTTGCCCACAGAGCCCCC	0.527																																																0													93	91	92					7																	73601993		2203	4297	6500	SO:0001583	missense	7458				CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.112A>G	chr7.hg19:g.73601993A>G	ENSP00000265753:p.Thr38Ala		A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	hg19	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.053342	0.55218	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.74002	-0.8;-0.8	5.05	5.05	0.67936	Nucleotide-binding, alpha-beta plait (1);	0.118143	0.64402	D	0.000020	T	0.72020	0.3409	L	0.55990	1.75	0.54753	D	0.999988	B;B;B;B	0.20368	0.012;0.012;0.044;0.006	B;B;B;B	0.28916	0.096;0.096;0.047;0.054	T	0.70310	-0.4907	10	0.49607	T	0.09	-15.2629	13.9042	0.63823	1.0:0.0:0.0:0.0	.	38;38;38;38	B4DMV6;Q75MU2;Q15056-2;Q15056	.;.;.;IF4H_HUMAN	A	38	ENSP00000265753:T38A;ENSP00000265754:T38A	ENSP00000265753:T38A	T	+	1	0	EIF4H	73239929	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.887000	0.63156	2.029000	0.59856	0.379000	0.24179	ACA		0.527	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		G	73601993	A	G	73601993	3	3	295	1	0	0	0	0	1	0	0	0	5041	159	6	3	118	3	EIF4H	7	73601993	Missense_Mutation	SNP	A	TCGA-B9-4116-01A-01D-1252-08	43126342	73601993	85536670	29	17502											
POR	5447	hgsc.bcm.edu	37	7	75615481	75615481	+	Missense_Mutation	SNP	A	A	G	rs72557954		TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:75615481A>G	ENST00000461988.1	+	15	1925	c.1820A>G	c.(1819-1821)tAc>tGc	p.Y607C	TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA|POR_ENST00000450476.1_Missense_Mutation_p.Y506C|POR_ENST00000419840.1_Intron|POR_ENST00000439269.1_Missense_Mutation_p.Y345C|POR_ENST00000545601.1_Missense_Mutation_p.Y415C|POR_ENST00000394893.1_Missense_Mutation_p.Y607C	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	604					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CCCCAGGTCTACGTCCAGCAC	0.632																																																0			GRCh37	CM087168	POR	M	rs72557954						43	56	52					7																	75615481		2106	4224	6330	SO:0001583	missense	5447			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1820A>G	chr7.hg19:g.75615481A>G	ENSP00000419970:p.Tyr607Cys		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	hg19	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.731367	0.30684	.	.	ENSG00000127948	ENST00000461988;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	3.59	3.59	0.41128	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.127712	0.53938	D	0.000041	D	0.94512	0.8233	H	0.99336	4.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95784	0.8819	10	0.87932	D	0	-33.1823	12.3556	0.55174	1.0:0.0:0.0:0.0	.	604;506;415;613	P16435;E7EVY7;F5H468;Q59ED7	NCPR_HUMAN;.;.;.	C	607;607;415;506;345	ENSP00000419970:Y607C;ENSP00000378355:Y607C;ENSP00000446149:Y415C;ENSP00000416572:Y506C;ENSP00000412490:Y345C	ENSP00000378355:Y607C	Y	+	2	0	POR	75453417	1.000000	0.71417	0.956000	0.39512	0.099000	0.18886	5.702000	0.68332	1.863000	0.54032	0.459000	0.35465	TAC		0.632	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		G	75615481	A	G	75615481	3	3	295	1	0	0	0	0	1	0	0	0	12259	391	14	3	1874	3	POR	7	75615481	Missense_Mutation	SNP	A	TCGA-B9-4116-01A-01D-1252-08	2013488	75615481	83523182	30	17503											
BAIAP2L1	55971	hgsc.bcm.edu	37	7	97933661	97933661	+	Silent	SNP	G	G	A	rs555687728		TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:97933661G>A	ENST00000005260.8	-	12	1484	c.1269C>T	c.(1267-1269)acC>acT	p.T423T		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	423					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.T423T(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			ACAAGTTCACGGTGCTGATGC	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		18777	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	breast(1)											119	99	105					7																	97933661		2203	4300	6503	SO:0001819	synonymous_variant	55971			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1269C>T	chr7.hg19:g.97933661G>A			A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	hg19	CCDS34687.1																																																																																				0.537	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		A	97933661	G	A	97933661	2	1	295	1	0	0	0	0	0	0	0	1	1302	1103	39	1		1	BAIAP2L1	7	97933661	Silent	SNP	G	TCGA-B9-4116-01A-01D-1252-08	22318180	97933661	61205002	31	17504											
ANKRD7	56311	hgsc.bcm.edu	37	7	117879989	117879989	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:117879989C>A	ENST00000265224.4	+	6	894	c.739C>A	c.(739-741)Cat>Aat	p.H247N	ANKRD7_ENST00000357099.4_Missense_Mutation_p.H267N|ANKRD7_ENST00000433239.1_Missense_Mutation_p.H194N|ANKRD7_ENST00000417525.1_Silent_p.A192A|ANKRD7_ENST00000477532.1_3'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	247					male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						CACTGCGAGCCATGGAAAGAA	0.338																																																0													95	90	92					7																	117879989		1874	4112	5986	SO:0001583	missense	56311			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"Ankyrin repeat domain containing"	18588	protein-coding gene	gene with protein product	"testis-specific ankyrin motif containing protein"	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.739C>A	chr7.hg19:g.117879989C>A	ENSP00000265224:p.His247Asn		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	hg19	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	C	8.240	0.806672	0.16467	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000433239	T;T;T	0.39787	1.07;1.18;1.06	3.96	-7.92	0.01160	.	7.917730	0.01487	U	0.016939	T	0.22551	0.0544	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08722	-1.0708	10	0.42905	T	0.14	-2.3393	0.7429	0.00977	0.3457:0.1668:0.1118:0.3758	.	247	Q92527	ANKR7_HUMAN	N	267;247;194	ENSP00000349612:H267N;ENSP00000265224:H247N;ENSP00000388473:H194N	ENSP00000265224:H247N	H	+	1	0	ANKRD7	117667225	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.364000	0.07583	-2.334000	0.00630	-2.920000	0.00090	CAT		0.338	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		A	117879989	C	A	117879989	3	1	295	1	0	0	0	0	1	0	0	0	686	594	21	4	761	4	ANKRD7	7	117879989	Missense_Mutation	SNP	C	TCGA-B9-4116-01A-01D-1252-08	19946328	117879989	41258674	32	17505											
PRKAG2	51422	hgsc.bcm.edu	37	7	151262972	151262972	+	Splice_Site	SNP	C	C	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:151262972C>T	ENST00000287878.4	-	12	1738		c.e12-1		PRKAG2_ENST00000492843.1_Splice_Site|PRKAG2_ENST00000433631.2_Splice_Site|PRKAG2_ENST00000418337.2_Splice_Site|PRKAG2_ENST00000392801.2_Splice_Site	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit						ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TATCAGACATCTAAACGGAAG	0.418																																																0													168	137	147					7																	151262972		2203	4300	6503	SO:0001630	splice_region_variant	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1234-1G>A	chr7.hg19:g.151262972C>T			Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Splice_Site	SNP	ENST00000287878.4	hg19	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459439	0.84317	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKAG2	150893905	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.538000	0.82048	2.882000	0.98803	0.655000	0.94253	.		0.418	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203	Intron	T	151262972	C	T	151262972	5	4	295	1	0	0	0	0	0	0	1	0	12506	927	32	2	496	2	PRKAG2	7	151262972	Splice_Site	SNP	C	TCGA-B9-4116-01A-01D-1252-08	33382983	151262972	7875691	33	17506											
FAM84B	157638	hgsc.bcm.edu	37	8	127569250	127569250	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr8:127569250G>C	ENST00000304916.3	-	2	840	c.385C>G	c.(385-387)Cag>Gag	p.Q129E	RP11-89K10.1_ENST00000519880.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-103H7.5_ENST00000524320.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000517773.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	129						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TGCGGGTACTGAGCCTGCGAC	0.637																																																0													27	29	29					8																	127569250		2202	4299	6501	SO:0001583	missense	157638			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"breast cancer membrane-associated protein 101", "neurological/sensory 2"	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.385C>G	chr8.hg19:g.127569250G>C	ENSP00000302578:p.Gln129Glu			Missense_Mutation	SNP	ENST00000304916.3	hg19	CCDS6358.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.480872	0.44044	.	.	ENSG00000168672	ENST00000304916	T	0.03152	4.03	4.81	4.81	0.61882	.	0.057812	0.64402	D	0.000001	T	0.14270	0.0345	M	0.63428	1.95	0.51767	D	0.999933	D	0.71674	0.998	D	0.67725	0.953	T	0.06215	-1.0839	10	0.27785	T	0.31	-11.9573	16.8556	0.86005	0.0:0.0:1.0:0.0	.	129	Q96KN1	FA84B_HUMAN	E	129	ENSP00000302578:Q129E	ENSP00000302578:Q129E	Q	-	1	0	FAM84B	127638432	1.000000	0.71417	0.977000	0.42913	0.005000	0.04900	7.807000	0.86032	2.181000	0.69327	0.467000	0.42956	CAG		0.637	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911		C	127569250	G	C	127569250	3	2	295	1	0	0	0	0	1	0	0	0	5644	1299	45	4	551	4	FAM84B	8	127569250	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08		127569250	18794772	34	17507											
C9orf79	286234	hgsc.bcm.edu	37	9	90501484	90501484	+	Silent	SNP	C	C	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr9:90501484C>T	ENST00000325643.5	+	4	2148	c.2082C>T	c.(2080-2082)acC>acT	p.T694T		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	694					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGCAGAAGACCGGGTTCAGGA	0.612																																																0													54	69	64					9																	90501484		2203	4300	6503	SO:0001819	synonymous_variant	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2082C>T	chr9.hg19:g.90501484C>T			B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	hg19	CCDS6676.1																																																																																				0.612	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		T	90501484	C	T	90501484	2	4	295	1	0	0	0	0	0	0	0	1	2499	639	23	1		1	C9orf79	9	90501484	Silent	SNP	C	TCGA-B9-4116-01A-01D-1252-08		90501484	50711947	35	17508											
NUP214	8021	hgsc.bcm.edu	37	9	134010301	134010301	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr9:134010301A>T	ENST00000359428.5	+	8	992	c.848A>T	c.(847-849)cAc>cTc	p.H283L	RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.H283L|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.H283L|RP11-544A12.4_ENST00000590461.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	283	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAAGAAAAGCACCCAGAGATA	0.378			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													69	67	67					9																	134010301		2203	4300	6503	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.848A>T	chr9.hg19:g.134010301A>T	ENSP00000352400:p.His283Leu		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	hg19	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.855209	0.71719	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.93488	-3.23;-3.23;-3.23	5.69	3.32	0.38043	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.43110	D	0.000603	T	0.80954	0.4723	N	0.08118	0	0.31118	N	0.709181	B;B	0.33022	0.202;0.394	B;B	0.32022	0.099;0.139	T	0.75227	-0.3392	10	0.23891	T	0.37	-11.0116	3.1676	0.06541	0.5712:0.2182:0.2105:0.0	.	283;283	P35658-4;P35658	.;NU214_HUMAN	L	283	ENSP00000352400:H283L;ENSP00000396576:H283L;ENSP00000405014:H283L	ENSP00000352400:H283L	H	+	2	0	NUP214	133000122	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.069000	0.50026	0.950000	0.37743	0.528000	0.53228	CAC		0.378	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		T	134010301	A	T	134010301	3	4	295	1	0	0	0	0	1	0	0	0	10764	159	6	5	878	5	NUP214	9	134010301	Missense_Mutation	SNP	A	TCGA-B9-4116-01A-01D-1252-08	43508817	134010301	7203130	36	17509											
SEC16A	9919	hgsc.bcm.edu	37	9	139369195	139369195	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr9:139369195delG	ENST00000371706.3	-	1	2372	c.2339delC	c.(2338-2340)cctfs	p.P780fs	SEC16A_ENST00000431893.2_Frame_Shift_Del_p.P780fs|SEC16A_ENST00000290037.6_Frame_Shift_Del_p.P780fs|SEC16A_ENST00000313050.7_Frame_Shift_Del_p.P958fs			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	780					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCTTCCAGCAGGGCTATTAGC	0.507																																																0													65	64	64					9																	139369195		1939	4138	6077	SO:0001589	frameshift_variant	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2339delC	chr9.hg19:g.139369195delG	ENSP00000360771:p.Pro780fs		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Frame_Shift_Del	DEL	ENST00000371706.3	hg19																																																																																					0.507	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		-	139369195	G	-	139369195	7	5	295	1	0	1	0	1	0	0	0	0	13992	1000	35	0	4320	0	SEC16A	9	139369195	Frame_Shift_Del	DEL	G	TCGA-B9-4116-01A-01D-1252-08	5358894	139369195	1844236	37	17510											
FAM45A	404636	hgsc.bcm.edu	37	10	120879873	120879873	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr10:120879873A>T	ENST00000361432.2	+	5	528	c.502A>T	c.(502-504)Atg>Ttg	p.M168L	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_Intron|FAM45A_ENST00000544016.1_Missense_Mutation_p.M17L	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	168										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TCAGTTTGGAATGGAAACTGT	0.343																																																0													87	84	85					10																	120879873		2203	4300	6503	SO:0001583	missense	404636			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.502A>T	chr10.hg19:g.120879873A>T	ENSP00000354688:p.Met168Leu		B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	hg19	CCDS7609.1	.	.	.	.	.	.	.	.	.	.	A	8.904	0.957092	0.18507	.	.	ENSG00000119979	ENST00000546291;ENST00000361432;ENST00000544016	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	L	0.42245	1.32	0.58432	D	0.999999	B;B;B;B	0.22414	0.051;0.069;0.01;0.051	B;B;B;B	0.24701	0.055;0.04;0.022;0.037	T	0.48625	-0.9019	9	0.02654	T	1	.	15.0195	0.71617	1.0:0.0:0.0:0.0	.	95;17;160;168	B4DNL9;B4DMU4;Q8TCE6-2;Q8TCE6	.;.;.;FA45A_HUMAN	L	168;168;17	.	ENSP00000354688:M168L	M	+	1	0	FAM45A	120869863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.380000	0.90149	2.285000	0.76669	0.533000	0.62120	ATG		0.343	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		T	120879873	A	T	120879873	3	4	295	1	0	0	0	0	1	0	0	0	5566	101	4	5	520	5	FAM45A	10	120879873	Missense_Mutation	SNP	A	TCGA-B9-4116-01A-01D-1252-08		120879873	14654874	38	17511											
LRRC4C	57689	hgsc.bcm.edu	37	11	40136626	40136630	+	Frame_Shift_Del	DEL	AGCAC	AGCAC	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	AGCAC	AGCAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:40136626_40136630delAGCAC	ENST00000278198.2	-	2	3176_3180	c.1213_1217delGTGCT	c.(1213-1218)gtgctcfs	p.VL405fs	LRRC4C_ENST00000528697.1_Frame_Shift_Del_p.VL405fs|LRRC4C_ENST00000530763.1_Frame_Shift_Del_p.VL405fs|LRRC4C_ENST00000527150.1_Frame_Shift_Del_p.VL405fs			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	405	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACCATCACTGAGCACAGCTATCCGC	0.454																																																0																																										SO:0001589	frameshift_variant	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1213_1217delGTGCT	chr11.hg19:g.40136626_40136630delAGCAC	ENSP00000278198:p.Val405fs		A8K0T1|Q7L0N3	Frame_Shift_Del	DEL	ENST00000278198.2	hg19	CCDS31464.1																																																																																				0.454	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		-	40136630	AGCAC	-	40136626	7	5	295	1	0	1	0	1	0	0	0	0	9010	304	11	0	709	0	LRRC4C	11	40136626	Frame_Shift_Del	DEL	AGCAC	TCGA-B9-4116-01A-01D-1252-08		40136626	94869890	39	17512											
TRIM48	79097	hgsc.bcm.edu	37	11	55032729	55032729	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:55032729G>T	ENST00000417545.2	+	2	484	c.398G>T	c.(397-399)aGc>aTc	p.S133I		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	117						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTGTGCTCCAGCTCTCAGGAG	0.507																																																0													53	49	50					11																	55032729		2190	4261	6451	SO:0001583	missense	79097			AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.398G>T	chr11.hg19:g.55032729G>T	ENSP00000402414:p.Ser133Ile		Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	hg19	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	g	7.071	0.568353	0.13560	.	.	ENSG00000150244	ENST00000417545	T	0.42900	0.96	0.596	-1.19	0.09585	Zinc finger, B-box (3);	.	.	.	.	T	0.36524	0.0970	N	0.20610	0.595	0.09310	N	1	P	0.49961	0.93	P	0.57009	0.811	T	0.23797	-1.0178	9	0.62326	D	0.03	.	4.2471	0.10677	0.7213:0.0:0.2787:0.0	.	117	Q8IWZ4	TRI48_HUMAN	I	133	ENSP00000402414:S133I	ENSP00000402414:S133I	S	+	2	0	TRIM48	54789305	0.000000	0.05858	0.045000	0.18777	0.232000	0.25224	-0.139000	0.10358	-0.425000	0.07371	-0.506000	0.04501	AGC		0.507	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			T	55032729	G	T	55032729	3	4	295	1	0	0	0	0	1	0	0	0	16528	971	34	4	404	4	TRIM48	11	55032729	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	14896103	55032729	79973787	40	17513											
COX8A	1351	hgsc.bcm.edu	37	11	63743765	63743765	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:63743765C>G	ENST00000314133.3	+	2	257	c.183C>G	c.(181-183)caC>caG	p.H61Q	AP000721.4_ENST00000535431.1_Intron	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	61					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)										TCCTGTCACACCTGGAGACCT	0.587																																																0													200	160	173					11																	63743765		2201	4297	6498	SO:0001583	missense	1351			J04823	CCDS8054.1	11q12-q13	2011-07-04	2010-04-27	2004-03-24	ENSG00000176340	ENSG00000176340	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2294	protein-coding gene	gene with protein product		123870	"cytochrome c oxidase subunit VIII", "cytochrome c oxidase subunit 8A (ubiquitous)"	COX8		2543673, 2847943	Standard	NM_004074		Approved	COX8-2, COX8L, VIII-L, COX, VIII	uc001nye.3	P10176	OTTHUMG00000167785	ENST00000314133.3:c.183C>G	chr11.hg19:g.63743765C>G	ENSP00000321260:p.His61Gln		P15955	Missense_Mutation	SNP	ENST00000314133.3	hg19	CCDS8054.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425954	0.62733	.	.	ENSG00000176340	ENST00000314133	.	.	.	5.75	3.88	0.44766	Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX (1);	0.064498	0.64402	D	0.000010	T	0.47002	0.1422	.	.	.	0.34757	D	0.732368	B	0.33940	0.433	B	0.37091	0.241	T	0.59337	-0.7473	8	0.87932	D	0	-8.3625	8.2466	0.31693	0.0:0.7603:0.1565:0.0832	.	61	P10176	COX8A_HUMAN	Q	61	.	ENSP00000321260:H61Q	H	+	3	2	COX8A	63500341	0.967000	0.33354	0.996000	0.52242	0.629000	0.37895	0.650000	0.24858	0.774000	0.33427	0.655000	0.94253	CAC		0.587	COX8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396273.1	NM_004074		G	63743765	C	G	63743765	3	3	295	1	0	0	0	0	1	0	0	0	3787	506	18	4	189	4	COX8A	11	63743765	Missense_Mutation	SNP	C	TCGA-B9-4116-01A-01D-1252-08	8711036	63743765	71262751	41	17514											
SCYL1	57410	hgsc.bcm.edu	37	11	65305494	65305494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:65305494G>A	ENST00000270176.5	+	16	2165	c.2088G>A	c.(2086-2088)tgG>tgA	p.W696*	SCYL1_ENST00000524944.1_Nonsense_Mutation_p.W696*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.W553*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.W679*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.W695*|SCYL1_ENST00000533862.1_Missense_Mutation_p.G684E|SCYL1_ENST00000534462.1_3'UTR|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.W696*	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	696					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GGAGCAGCTGGGAAGCTGAGG	0.637																																																0													34	36	35					11																	65305494		1905	4127	6032	SO:0001587	stop_gained	57410			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.2088G>A	chr11.hg19:g.65305494G>A	ENSP00000270176:p.Trp696*		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Nonsense_Mutation	SNP	ENST00000270176.5	hg19	CCDS41672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.30|12.30	1.897578|1.897578	0.33535|0.33535	.|.	.|.	ENSG00000142186|ENSG00000142186	ENST00000533862|ENST00000270176;ENST00000525364;ENST00000420247;ENST00000279270;ENST00000524944;ENST00000527009;ENST00000528545	T|.	0.12774|.	2.65|.	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	.|0.000000	.|0.50627	.|D	.|0.000105	T|.	0.43612|.	0.1255|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	B|.	0.22746|.	0.074|.	B|.	0.20955|.	0.032|.	T|.	0.48375|.	-0.9041|.	7|.	0.05436|0.11485	T|T	0.98|0.65	.|.	12.6154|12.6154	0.56573|0.56573	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	684|.	Q96KG9-6|.	.|.	E|X	684|696;695;679;696;696;553;168	ENSP00000437254:G684E|.	ENSP00000437254:G684E|ENSP00000270176:W696X	G|W	+|+	2|3	0|0	SCYL1|SCYL1	65062070|65062070	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.319000|0.319000	0.28217|0.28217	6.160000|6.160000	0.71862|0.71862	2.126000|2.126000	0.65437|0.65437	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.637	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		A	65305494	G	A	65305494	4	1	295	1	0	0	0	0	0	1	0	0	13953	1241	43	2	2150	2	SCYL1	11	65305494	Nonsense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	1561729	65305494	69701022	42	17515											
FGF3	2248	hgsc.bcm.edu	37	11	69625463	69625464	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:69625463_69625464insT	ENST00000334134.2	-	3	419_420	c.329_330insA	c.(328-330)cacfs	p.H110fs		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	110					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CGGCGCTGTAGTGCTCCTGCGG	0.639																																																0																																										SO:0001589	frameshift_variant	2248				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.330dupA	chr11.hg19:g.69625464_69625464dupT	ENSP00000334122:p.His110fs		Q0VG69	Frame_Shift_Ins	INS	ENST00000334134.2	hg19	CCDS8195.1																																																																																				0.639	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		T	69625464	-	T	69625463	7	5	295	1	0	1	1	0	0	0	0	0	5855	1020	36	0	393	0	FGF3	11	69625463	Frame_Shift_Ins	INS	-	TCGA-B9-4116-01A-01D-1252-08	4319969	69625463	65381053	43	17516											
IGSF9B	22997	hgsc.bcm.edu	37	11	133805658	133805658	+	Splice_Site	SNP	C	C	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:133805658C>T	ENST00000321016.8	-	7	1052		c.e7-1		IGSF9B_ENST00000533871.2_Splice_Site			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B						homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTTCAGGTCGCTGCAAAGCGG	0.617																																																0													20	24	22					11																	133805658		2117	4221	6338	SO:0001630	splice_region_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.822-1G>A	chr11.hg19:g.133805658C>T			G5EA26	Splice_Site	SNP	ENST00000321016.8	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.219946	0.95139	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0502	0.93039	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF9B	133310868	1.000000	0.71417	0.166000	0.22797	0.790000	0.44656	5.713000	0.68415	2.560000	0.86352	0.561000	0.74099	.		0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502	Intron	T	133805658	C	T	133805658	5	4	295	1	0	0	0	0	0	0	1	0	7608	811	28	2	3280	2	IGSF9B	11	133805658	Splice_Site	SNP	C	TCGA-B9-4116-01A-01D-1252-08	64180195	133805658	1200858	44	17517											
ITGA7	3679	hgsc.bcm.edu	37	12	56096870	56096870	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:56096870delT	ENST00000555728.1	-	2	327	c.299delA	c.(298-300)gagfs	p.E100fs	ITGA7_ENST00000347027.6_Frame_Shift_Del_p.E100fs|ITGA7_ENST00000257879.6_Frame_Shift_Del_p.E100fs|ITGA7_ENST00000257880.7_Frame_Shift_Del_p.E100fs|ITGA7_ENST00000394230.2_Frame_Shift_Del_p.E100fs|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Frame_Shift_Del_p.E100fs|ITGA7_ENST00000553804.1_Frame_Shift_Del_p.E100fs			Q13683	ITA7_HUMAN	integrin, alpha 7	100					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCAGTCAGTCTCCTCCAGGCT	0.642																																																0													106	96	99					12																	56096870		2203	4300	6503	SO:0001589	frameshift_variant	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.299delA	chr12.hg19:g.56096870delT	ENSP00000452387:p.Glu100fs		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Frame_Shift_Del	DEL	ENST00000555728.1	hg19																																																																																					0.642	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		-	56096870	T	-	56096870	7	5	295	1	0	1	0	1	0	0	0	0	7883	1551	54	0	3388	0	ITGA7	12	56096870	Frame_Shift_Del	DEL	T	TCGA-B9-4116-01A-01D-1252-08		56096870	77755025	45	17518											
PPFIA2	8499	hgsc.bcm.edu	37	12	81661720	81661720	+	Silent	SNP	A	A	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:81661720A>G	ENST00000549396.1	-	29	3617	c.3457T>C	c.(3457-3459)Tta>Cta	p.L1153L	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Silent_p.L1052L|PPFIA2_ENST00000541570.2_Silent_p.L689L|PPFIA2_ENST00000550359.2_Silent_p.L1000L|PPFIA2_ENST00000552948.1_Silent_p.L1132L|PPFIA2_ENST00000443686.3_Silent_p.L1048L|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Silent_p.L1138L|PPFIA2_ENST00000541017.1_Silent_p.L339L|PPFIA2_ENST00000548586.1_Silent_p.L1147L|PPFIA2_ENST00000550584.2_Silent_p.L1153L|PPFIA2_ENST00000333447.7_Silent_p.L1141L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1153	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATCTGTAATAATAAAGCTAAG	0.363																																																0													68	66	67					12																	81661720		1846	4101	5947	SO:0001819	synonymous_variant	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3457T>C	chr12.hg19:g.81661720A>G			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	hg19	CCDS55857.1																																																																																				0.363	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			G	81661720	A	G	81661720	2	3	295	1	0	0	0	0	0	0	0	1	12312	98	4	3		3	PPFIA2	12	81661720	Silent	SNP	A	TCGA-B9-4116-01A-01D-1252-08	25564850	81661720	52190175	46	17519											
KIAA1033	23325	hgsc.bcm.edu	37	12	105512257	105512259	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	GTG	GTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:105512257_105512259delGTG	ENST00000332180.5	+	7	556_558	c.469_471delGTG	c.(469-471)gtgdel	p.V158del		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTGCTATGAAGTGGTGATGAACG	0.34																																																0																																										SO:0001651	inframe_deletion	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.469_471delGTG	chr12.hg19:g.105512260_105512262delGTG	ENSP00000328062:p.Val158del			In_Frame_Del	DEL	ENST00000332180.5	hg19	CCDS41826.1																																																																																				0.34	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		-	105512259	GTG	-	105512257	7	5	295	1	0	1	0	1	0	0	0	0	8208	1029	36	0	495	0	KIAA1033	12	105512257	In_Frame_Del	DEL	GTG	TCGA-B9-4116-01A-01D-1252-08	23850537	105512257	28339638	47	17520											
ZNF10	7556	hgsc.bcm.edu	37	12	133732280	133732280	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:133732280G>C	ENST00000248211.6	+	5	670	c.448G>C	c.(448-450)Gtg>Ctg	p.V150L	ZNF10_ENST00000402932.2_Intron|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.V150L	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	150				Missing (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTTGAGGCAAGTGGCATTCAC	0.428																																																0													110	106	107					12																	133732280		2203	4300	6503	SO:0001583	missense	7556			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.448G>C	chr12.hg19:g.133732280G>C	ENSP00000248211:p.Val150Leu		B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	hg19	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273178	0.40194	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000537119	T;T;T	0.05447	3.44;3.44;4.56	4.44	4.44	0.53790	.	0.698949	0.11773	N	0.530882	T	0.04137	0.0115	N	0.16708	0.43	0.80722	D	1	P	0.34662	0.462	B	0.31614	0.133	T	0.51252	-0.8729	9	.	.	.	.	8.5148	0.33239	0.1041:0.0:0.8959:0.0	.	150	P21506	ZNF10_HUMAN	L	150;150;108	ENSP00000248211:V150L;ENSP00000393814:V150L;ENSP00000437397:V108L	.	V	+	1	0	ZNF10	132242353	0.671000	0.27521	1.000000	0.80357	0.991000	0.79684	1.986000	0.40677	2.460000	0.83146	0.655000	0.94253	GTG		0.428	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		C	133732280	G	C	133732280	3	2	295	1	0	0	0	0	1	0	0	0	17717	1029	36	4	462	4	ZNF10	12	133732280	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	28220023	133732280	119615	48	17521											
IL17D	53342	hgsc.bcm.edu	37	13	21295994	21295994	+	Silent	SNP	C	C	T	rs372465901		TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr13:21295994C>T	ENST00000304920.3	+	3	618	c.510C>T	c.(508-510)gtC>gtT	p.V170V		NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN	interleukin 17D	170					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		GCACCTGCGTCCCCGAGCCGG	0.706																																																0													39	39	39					13																	21295994		2190	4279	6469	SO:0001819	synonymous_variant	53342			AY078238	CCDS9292.1	13q11	2008-07-18			ENSG00000172458	ENSG00000172458		"Interleukins and interleukin receptors"	5984	protein-coding gene	gene with protein product	"interleukin 27"	607587				12097364	Standard	NM_138284		Approved	IL-22, IL-27, IL-17D, IL27, FLJ30846	uc001unm.3	Q8TAD2	OTTHUMG00000016521	ENST00000304920.3:c.510C>T	chr13.hg19:g.21295994C>T			B1AM69	Silent	SNP	ENST00000304920.3	hg19	CCDS9292.1																																																																																				0.706	IL17D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044087.1	NM_138284		T	21295994	C	T	21295994	2	4	295	1	0	0	0	0	0	0	0	1	7639	842	30	2		2	IL17D	13	21295994	Silent	SNP	C	TCGA-B9-4116-01A-01D-1252-08		21295994	93873884	49	17522											
IGF1R	3480	hgsc.bcm.edu	37	15	99465632	99465632	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr15:99465632C>A	ENST00000268035.6	+	11	3068	c.2457C>A	c.(2455-2457)aaC>aaA	p.N819K	IGF1R_ENST00000558762.1_Missense_Mutation_p.N819K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	819	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GCGCCTCCAACTTCGTCTTTG	0.517																																																0													105	102	103					15																	99465632		2197	4297	6494	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2457C>A	chr15.hg19:g.99465632C>A	ENSP00000268035:p.Asn819Lys		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	hg19	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695512	0.48202	.	.	ENSG00000140443	ENST00000268035	T	0.68624	-0.34	5.5	4.59	0.56863	Immunoglobulin-like fold (1);	0.086755	0.47455	N	0.000239	T	0.57169	0.2035	L	0.44542	1.39	0.50171	D	0.999854	B;B	0.33964	0.434;0.18	B;B	0.34489	0.184;0.109	T	0.58747	-0.7582	10	0.54805	T	0.06	.	9.3354	0.38047	0.1455:0.7829:0.0:0.0716	.	819;819	C9J5X1;P08069	.;IGF1R_HUMAN	K	819	ENSP00000268035:N819K	ENSP00000268035:N819K	N	+	3	2	IGF1R	97283155	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.087000	0.30865	1.319000	0.45190	-0.127000	0.14921	AAC		0.517	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		A	99465632	C	A	99465632	3	1	295	1	0	0	0	0	1	0	0	0	7573	564	20	4	2499	4	IGF1R	15	99465632	Missense_Mutation	SNP	C	TCGA-B9-4116-01A-01D-1252-08		99465632	3065760	50	17523											
MKL2	57496	hgsc.bcm.edu	37	16	14346228	14346228	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:14346228T>G	ENST00000341243.5	+	13	2539	c.2539T>G	c.(2539-2541)Tca>Gca	p.S847A	MKL2_ENST00000574045.1_Missense_Mutation_p.S808A|MKL2_ENST00000318282.5_Missense_Mutation_p.S808A|MKL2_ENST00000571589.1_Missense_Mutation_p.S858A			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	847					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACAGCCTAGTTCACCCCCGCC	0.522																																																0													111	107	108					16																	14346228		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2539T>G	chr16.hg19:g.14346228T>G	ENSP00000345841:p.Ser847Ala		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	hg19		.	.	.	.	.	.	.	.	.	.	T	15.37	2.812492	0.50527	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.98	4.89	0.63831	.	0.443487	0.25106	N	0.033091	T	0.29882	0.0747	L	0.41710	1.295	0.20563	N	0.999886	B;B	0.19583	0.022;0.037	B;B	0.15052	0.005;0.012	T	0.19353	-1.0308	9	0.22706	T	0.39	-7.812	6.5315	0.22330	0.1376:0.0725:0.0:0.7899	.	858;808	B4DGT8;Q9ULH7-4	.;.	A	808;847	.	ENSP00000339086:S808A	S	+	1	0	MKL2	14253729	1.000000	0.71417	0.041000	0.18516	0.317000	0.28152	4.265000	0.58865	1.089000	0.41292	-0.250000	0.11733	TCA		0.522	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		G	14346228	T	G	14346228	3	3	295	1	0	0	0	0	1	0	0	0	9604	1783	62	5	2472	5	MKL2	16	14346228	Missense_Mutation	SNP	T	TCGA-B9-4116-01A-01D-1252-08		14346228	76008525	51	17524											
BFAR	51283	hgsc.bcm.edu	37	16	14755800	14755800	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:14755800C>G	ENST00000261658.2	+	6	1112	c.835C>G	c.(835-837)Ccc>Gcc	p.P279A	BFAR_ENST00000563971.1_Missense_Mutation_p.P154A|BFAR_ENST00000426842.2_Missense_Mutation_p.P151A	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	279					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CAAGAGCTCCCCCAGGCTGAG	0.567																																																0													222	192	202					16																	14755800		2197	4300	6497	SO:0001583	missense	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.835C>G	chr16.hg19:g.14755800C>G	ENSP00000261658:p.Pro279Ala		A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	hg19	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524396	0.64747	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.55760	2.85;0.5	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.996	T	0.67142	-0.5745	10	0.87932	D	0	.	18.1703	0.89743	0.0:1.0:0.0:0.0	.	151;279;279	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	A	279;151	ENSP00000261658:P279A;ENSP00000400634:P151A	ENSP00000261658:P279A	P	+	1	0	BFAR	14663301	1.000000	0.71417	0.584000	0.28653	0.249000	0.25844	7.391000	0.79828	2.513000	0.84729	0.655000	0.94253	CCC		0.567	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		G	14755800	C	G	14755800	3	3	295	1	0	0	0	0	1	0	0	0	1414	623	22	4	853	4	BFAR	16	14755800	Missense_Mutation	SNP	C	TCGA-B9-4116-01A-01D-1252-08	409572	14755800	75598953	52	17525											
GPRC5B	51704	hgsc.bcm.edu	37	16	19884048	19884048	+	Silent	SNP	G	G	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:19884048G>A	ENST00000300571.2	-	2	311	c.120C>T	c.(118-120)gaC>gaT	p.D40D	GPRC5B_ENST00000537135.1_Silent_p.D66D|GPRC5B_ENST00000535671.1_Silent_p.D40D|GPRC5B_ENST00000569847.1_Silent_p.D40D|GPRC5B_ENST00000569479.1_Silent_p.D40D	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	40					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GAGGGAGGAGGTCCAGCCCAC	0.637																																																0													50	51	51					16																	19884048		2197	4300	6497	SO:0001819	synonymous_variant	51704			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.120C>T	chr16.hg19:g.19884048G>A			D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	hg19	CCDS10581.1																																																																																				0.637	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			A	19884048	G	A	19884048	2	1	295	1	0	0	0	0	0	0	0	1	6727	1252	44	2		2	GPRC5B	16	19884048	Silent	SNP	G	TCGA-B9-4116-01A-01D-1252-08	5128248	19884048	70470705	53	17526											
BCL7C	9274	hgsc.bcm.edu	37	16	30899187	30899187	+	Silent	SNP	C	C	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:30899187C>T	ENST00000215115.4	-	6	1668	c.653G>A	c.(652-654)tGa>tAa	p.*218*	AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000570025.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000565573.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	0					apoptotic process (GO:0006915)			p.*218L(1)		large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			GCCGGCTTCTCAGGGGTCAGG	0.592																																																1	Nonstop extension(1)	lung(1)											81	107	98					16																	30899187		2196	4300	6496	SO:0001819	synonymous_variant	9274			AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.653G>A	chr16.hg19:g.30899187C>T			O43770|Q6PD89	Silent	SNP	ENST00000215115.4	hg19	CCDS10693.1																																																																																				0.592	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255547.3	NM_004765		T	30899187	C	T	30899187	2	4	295	1	0	0	0	0	0	0	0	1	1380	837	29	2		2	BCL7C	16	30899187	Silent	SNP	C	TCGA-B9-4116-01A-01D-1252-08	11015139	30899187	59455566	54	17527											
ZNF423	23090	hgsc.bcm.edu	37	16	49671278	49671278	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:49671278G>T	ENST00000561648.1	-	4	1838	c.1785C>A	c.(1783-1785)caC>caA	p.H595Q	ZNF423_ENST00000563137.2_Missense_Mutation_p.H535Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.H478Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.H535Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.H535Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.H595Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.H478Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	595					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACTTCTTGCTGTGGGCCAGTG	0.572																																																0													127	100	109					16																	49671278		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1785C>A	chr16.hg19:g.49671278G>T	ENSP00000455426:p.His595Gln		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	hg19	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	8.424	0.846973	0.17034	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08634	3.07;3.14	4.78	2.8	0.32819	.	0.047718	0.85682	D	0.000000	T	0.05273	0.0140	N	0.24115	0.695	0.37616	D	0.921121	B	0.26120	0.142	B	0.24394	0.053	T	0.43702	-0.9375	9	.	.	.	.	8.2567	0.31760	0.2436:0.0:0.7564:0.0	.	595	Q2M1K9	ZN423_HUMAN	Q	595;478	ENSP00000262383:H595Q;ENSP00000442321:H478Q	.	H	-	3	2	ZNF423	48228779	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.823000	0.55715	0.439000	0.26476	0.561000	0.74099	CAC		0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		T	49671278	G	T	49671278	3	4	295	1	0	0	0	0	1	0	0	0	17903	1368	48	4	2089	4	ZNF423	16	49671278	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	18772091	49671278	40683475	55	17528											
BBS2	583	hgsc.bcm.edu	37	16	56531663	56531663	+	Silent	SNP	G	G	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:56531663G>A	ENST00000245157.5	-	14	2209	c.1789C>T	c.(1789-1791)Cta>Tta	p.L597L	BBS2_ENST00000568104.1_Intron	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	597					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ACCTTAACTAGCACCTTTCGT	0.373									Bardet-Biedl syndrome																																							0													141	133	136					16																	56531663		2198	4300	6498	SO:0001819	synonymous_variant	583	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1789C>T	chr16.hg19:g.56531663G>A			Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	hg19	CCDS32451.1																																																																																				0.373	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		A	56531663	G	A	56531663	2	1	295	1	0	0	0	0	0	0	0	1	1338	962	34	2		2	BBS2	16	56531663	Silent	SNP	G	TCGA-B9-4116-01A-01D-1252-08	6860385	56531663	33823090	56	17529											
ZC3H18	124245	hgsc.bcm.edu	37	16	88653023	88653023	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:88653023G>T	ENST00000301011.5	+	3	819	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.E207*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	207						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGACCTGGAAGAAGGTGAAGT	0.542																																					Ovarian(121;375 2276 20373 38669)											0													136	105	116					16																	88653023		2198	4300	6498	SO:0001587	stop_gained	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.619G>T	chr16.hg19:g.88653023G>T	ENSP00000301011:p.Glu207*		Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	hg19	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	41	8.860379	0.98980	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-25.7045	18.3833	0.90457	0.0:0.0:1.0:0.0	.	.	.	.	X	207;207;207;90	.	ENSP00000289509:E207X	E	+	1	0	ZC3H18	87180524	1.000000	0.71417	0.978000	0.43139	0.763000	0.43281	9.161000	0.94739	2.350000	0.79820	0.462000	0.41574	GAA		0.542	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		T	88653023	G	T	88653023	4	4	295	1	0	0	0	0	0	1	0	0	17573	943	33	4	625	4	ZC3H18	16	88653023	Nonsense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	32121360	88653023	1701730	57	17530											
MINK1	100130311	hgsc.bcm.edu	37	17	4800540	4800540	+	5'Flank	SNP	T	T	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:4800540T>G	ENST00000381365.3	+	0	0				C17orf107_ENST00000521575.1_5'Flank|MINK1_ENST00000453408.3_Silent_p.V1299V|MINK1_ENST00000355280.6_Silent_p.V1319V|MINK1_ENST00000347992.7_Silent_p.V1290V	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107											endometrium(2)	2						GCAGCCAAGTTTACTTCATGA	0.612																																																0													71	73	72					17																	4800540		1933	4140	6073	SO:0001631	upstream_gene_variant	50488			AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838		chr17.hg19:g.4800540T>G	Exception_encountered			Silent	SNP	ENST00000381365.3	hg19	CCDS45591.1																																																																																				0.612	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380556.1	NM_001145536		G	4800540	T	G	4800540	1	3	295	0	1	0	0	0	0	0	0	0	9589	1828	64	5		5	MINK1	17	4800540	5'Flank	SNP	T	TCGA-B9-4116-01A-01D-1252-08		4800540	76394670	58	17531											
SLC16A13	201232	hgsc.bcm.edu	37	17	6942168	6942169	+	In_Frame_Ins	INS	-	-	ATA			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:6942168_6942169insATA	ENST00000308027.6	+	3	1349_1350	c.1041_1042insATA	c.(1042-1044)ata>ATAata	p.348_348I>II		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	348						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TGTTGCAGATGATAGAGAGCAT	0.589																																																0																																										SO:0001652	inframe_insertion	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.1042_1044dupATA	chr17.hg19:g.6942169_6942171dupATA	ENSP00000309751:p.Ile348dup		A3KMG3|A5PKU5|Q2VP92	In_Frame_Ins	INS	ENST00000308027.6	hg19	CCDS11085.1																																																																																				0.589	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			ATA	6942169	-	ATA	6942168	7	5	295	1	0	1	1	0	0	0	0	0	14412	1290	45	0	1051	0	SLC16A13	17	6942168	In_Frame_Ins	INS	-	TCGA-B9-4116-01A-01D-1252-08	2141628	6942168	74253042	59	17532											
YBX2	51087	hgsc.bcm.edu	37	17	7193332	7193332	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:7193332C>A	ENST00000007699.5	-	6	866	c.803G>T	c.(802-804)gGa>gTa	p.G268V	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	268	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TCGCTCATCTCCCTGCTGTTG	0.632																																																0													52	55	54					17																	7193332		2203	4300	6503	SO:0001583	missense	51087			AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.803G>T	chr17.hg19:g.7193332C>A	ENSP00000007699:p.Gly268Val		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	hg19	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845908	0.51164	.	.	ENSG00000006047	ENST00000007699	T	0.29142	1.58	5.34	5.34	0.76211	.	0.251035	0.34750	N	0.003707	T	0.52370	0.1730	M	0.62723	1.935	0.53688	D	0.999978	D	0.89917	1.0	D	0.74023	0.982	T	0.52426	-0.8577	10	0.72032	D	0.01	-13.9828	14.9276	0.70890	0.0:1.0:0.0:0.0	.	268	Q9Y2T7	YBOX2_HUMAN	V	268	ENSP00000007699:G268V	ENSP00000007699:G268V	G	-	2	0	YBX2	7134056	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.987000	0.49378	2.689000	0.91719	0.462000	0.41574	GGA		0.632	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		A	7193332	C	A	7193332	3	1	295	1	0	0	0	0	1	0	0	0	17475	855	30	4	303	4	YBX2	17	7193332	Missense_Mutation	SNP	C	TCGA-B9-4116-01A-01D-1252-08	251164	7193332	74001878	60	17533											
SPEM1	374768	hgsc.bcm.edu	37	17	7324267	7324267	+	Silent	SNP	C	C	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:7324267C>A	ENST00000323675.3	+	3	298	c.273C>A	c.(271-273)gtC>gtA	p.V91V	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	91					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CTCCTGCAGTCCATCTTCGGT	0.597																																																0													112	120	117					17																	7324267		2106	4203	6309	SO:0001819	synonymous_variant	374768			AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.273C>A	chr17.hg19:g.7324267C>A				Silent	SNP	ENST00000323675.3	hg19	CCDS42254.1																																																																																				0.597	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		A	7324267	C	A	7324267	2	1	295	1	0	0	0	0	0	0	0	1	15042	842	30	4		4	SPEM1	17	7324267	Silent	SNP	C	TCGA-B9-4116-01A-01D-1252-08	130935	7324267	73870943	61	17534											
NCOR1	9611	hgsc.bcm.edu	37	17	15964734	15964734	+	Silent	SNP	A	A	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:15964734A>G	ENST00000268712.3	-	37	6119	c.5862T>C	c.(5860-5862)agT>agC	p.S1954S	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Silent_p.S538S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1954	Interaction with C1D. {ECO:0000250}.|Poly-Ser.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AAGAGTCTGAACTTTGAGAGC	0.428																																																0													219	200	206					17																	15964734		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5862T>C	chr17.hg19:g.15964734A>G			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	hg19	CCDS11175.1																																																																																				0.428	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		G	15964734	A	G	15964734	2	3	295	1	0	0	0	0	0	0	0	1	10237	40	2	3		3	NCOR1	17	15964734	Silent	SNP	A	TCGA-B9-4116-01A-01D-1252-08	8640467	15964734	65230476	62	17535											
PLEKHH3	79990	hgsc.bcm.edu	37	17	40821477	40821477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:40821477C>A	ENST00000591022.1	-	12	2563	c.2176G>T	c.(2176-2178)Gag>Tag	p.E726*	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Nonsense_Mutation_p.E723*|PLEKHH3_ENST00000412503.1_Nonsense_Mutation_p.E549*	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	726	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGCTGGCTCTCTCCCACCCTC	0.622																																																0													20	23	22					17																	40821477		2202	4300	6502	SO:0001587	stop_gained	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.2176G>T	chr17.hg19:g.40821477C>A	ENSP00000468678:p.Glu726*		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Nonsense_Mutation	SNP	ENST00000591022.1	hg19	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	41	8.827108	0.98968	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	.	.	.	4.43	4.43	0.53597	.	0.336296	0.21518	N	0.073272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-10.0927	16.1774	0.81862	0.0:1.0:0.0:0.0	.	.	.	.	X	726;549	.	ENSP00000293349:E726X	E	-	1	0	PLEKHH3	38075003	0.999000	0.42202	0.997000	0.53966	0.955000	0.61496	3.927000	0.56499	2.465000	0.83290	0.655000	0.94253	GAG		0.622	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		A	40821477	C	A	40821477	4	1	295	1	0	0	0	0	0	1	0	0	12080	922	32	4	213	4	PLEKHH3	17	40821477	Nonsense_Mutation	SNP	C	TCGA-B9-4116-01A-01D-1252-08	24856743	40821477	40373733	63	17536											
TIMM44	10469	hgsc.bcm.edu	37	19	8002997	8002997	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:8002997T>A	ENST00000270538.3	-	3	495	c.227A>T	c.(226-228)gAa>gTa	p.E76V		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	76					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TTCTTTCATTTCTTTGTTTTT	0.393																																																0													194	192	193					19																	8002997		2203	4300	6503	SO:0001583	missense	10469			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.227A>T	chr19.hg19:g.8002997T>A	ENSP00000270538:p.Glu76Val		A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	hg19	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629496	0.87660	.	.	ENSG00000104980	ENST00000270538	D	0.87491	-2.26	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.93625	0.7964	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94461	0.7676	10	0.87932	D	0	-30.5113	13.3329	0.60500	0.0:0.0:0.0:1.0	.	76	O43615	TIM44_HUMAN	V	76	ENSP00000270538:E76V	ENSP00000270538:E76V	E	-	2	0	TIMM44	7908997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.452000	0.80683	2.047000	0.60756	0.528000	0.53228	GAA		0.393	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			A	8002997	T	A	8002997	3	1	295	1	0	0	0	0	1	0	0	0	15917	1783	62	5	1175	5	TIMM44	19	8002997	Missense_Mutation	SNP	T	TCGA-B9-4116-01A-01D-1252-08		8002997	51125986	64	17537											
RAB11B	9230	hgsc.bcm.edu	37	19	8468330	8468331	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	CA	CA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:8468330_8468331delCA	ENST00000328024.6	+	5	763_764	c.545_546delCA	c.(544-546)gcafs	p.A182fs		NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	182					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						AAACAGATCGCAGACCGCGCTG	0.653																																																0																																										SO:0001589	frameshift_variant	9230			X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"RAB, member RAS oncogene"	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.545_546delCA	chr19.hg19:g.8468330_8468331delCA	ENSP00000333547:p.Ala182fs		A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Frame_Shift_Del	DEL	ENST00000328024.6	hg19	CCDS12201.1																																																																																				0.653	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		-	8468331	CA	-	8468330	7	5	295	1	0	1	0	1	0	0	0	0	12898	710	25	0	563	0	RAB11B	19	8468330	Frame_Shift_Del	DEL	CA	TCGA-B9-4116-01A-01D-1252-08	465333	8468330	50660653	65	17538											
OR7E24	26648	hgsc.bcm.edu	37	19	9362275	9362275	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:9362275T>G	ENST00000456448.1	+	1	670	c.556T>G	c.(556-558)Tgc>Ggc	p.C186G		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ACAGCTCACCTGCTTCAAGGA	0.403																																																0													96	100	99					19																	9362275		2015	4185	6200	SO:0001583	missense	26648			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"GPCR / Class A : Olfactory receptors"	8396	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily E, member 24 pseudogene"	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.556T>G	chr19.hg19:g.9362275T>G	ENSP00000387523:p.Cys186Gly		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	hg19	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	t	10.40	1.340959	0.24339	.	.	ENSG00000237521	ENST00000456448	T	0.00224	8.51	2.21	-0.132	0.13489	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	L	0.53249	1.67	0.09310	N	1	D	0.52996	0.957	P	0.50490	0.642	T	0.48614	-0.9020	9	0.87932	D	0	.	6.5019	0.22174	0.0:0.4011:0.0:0.5989	.	186	Q6IFN5	O7E24_HUMAN	G	186	ENSP00000387523:C186G	ENSP00000387523:C186G	C	+	1	0	OR7E24	9223275	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.214000	0.32419	-0.264000	0.09365	-0.483000	0.04790	TGC		0.403	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			G	9362275	T	G	9362275	3	3	295	1	0	0	0	0	1	0	0	0	11223	1580	55	5	558	5	OR7E24	19	9362275	Missense_Mutation	SNP	T	TCGA-B9-4116-01A-01D-1252-08	893945	9362275	49766708	66	17539											
UPF1	5976	hgsc.bcm.edu	37	19	18963808	18963808	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:18963808A>G	ENST00000599848.1	+	7	1194	c.985A>G	c.(985-987)Atc>Gtc	p.I329V	UPF1_ENST00000262803.5_Missense_Mutation_p.I329V			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	329	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCAAGATAACATCACTGTCAG	0.537																																																0													131	115	120					19																	18963808		2203	4300	6503	SO:0001583	missense	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.985A>G	chr19.hg19:g.18963808A>G	ENSP00000470142:p.Ile329Val		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	hg19		.	.	.	.	.	.	.	.	.	.	A	11.03	1.518996	0.27211	.	.	ENSG00000005007	ENST00000262803	D	0.88975	-2.45	4.16	4.16	0.48862	.	0.052684	0.64402	D	0.000001	T	0.79052	0.4381	N	0.16903	0.455	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.003;0.007	T	0.72077	-0.4399	10	0.18276	T	0.48	-35.3027	12.395	0.55380	1.0:0.0:0.0:0.0	.	329;329	Q92900;Q92900-2	RENT1_HUMAN;.	V	329	ENSP00000262803:I329V	ENSP00000262803:I329V	I	+	1	0	UPF1	18824808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.925000	0.92832	1.534000	0.49203	0.438000	0.28831	ATC		0.537	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		G	18963808	A	G	18963808	3	3	295	1	0	0	0	0	1	0	0	0	17008	217	8	3	1011	3	UPF1	19	18963808	Missense_Mutation	SNP	A	TCGA-B9-4116-01A-01D-1252-08	9601533	18963808	40165175	67	17540											
HSD17B14	51171	hgsc.bcm.edu	37	19	49316535	49316535	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:49316535A>C	ENST00000263278.4	-	9	976	c.710T>G	c.(709-711)tTc>tGc	p.F237C	BCAT2_ENST00000597011.1_5'Flank|BCAT2_ENST00000402551.1_5'Flank|BCAT2_ENST00000598162.1_5'Flank|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000316273.6_5'Flank|BCAT2_ENST00000601496.1_5'Flank|HSD17B14_ENST00000599157.1_Missense_Mutation_p.F213C|BCAT2_ENST00000599246.1_5'Flank	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	237					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GCCCGTGCAGAAGTTGGCTTC	0.677																																																0													24	22	23					19																	49316535		2201	4294	6495	SO:0001583	missense	51171			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	23238	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 3", "short chain dehydrogenase/reductase family 47C, member 1"	612832	"dehydrogenase/reductase (SDR family) member 10"	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.710T>G	chr19.hg19:g.49316535A>C	ENSP00000263278:p.Phe237Cys		Q9UKU3	Missense_Mutation	SNP	ENST00000263278.4	hg19	CCDS12736.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414225	0.42817	.	.	ENSG00000087076	ENST00000263278	T	0.25250	1.81	4.54	4.54	0.55810	NAD(P)-binding domain (1);	0.056642	0.64402	D	0.000001	T	0.48732	0.1516	M	0.70787	2.145	0.48571	D	0.99967	D	0.89917	1.0	D	0.97110	1.0	T	0.51888	-0.8648	10	0.72032	D	0.01	.	12.4586	0.55718	1.0:0.0:0.0:0.0	.	237	Q9BPX1	DHB14_HUMAN	C	237	ENSP00000263278:F237C	ENSP00000263278:F237C	F	-	2	0	HSD17B14	54008347	1.000000	0.71417	0.995000	0.50966	0.070000	0.16714	4.249000	0.58766	1.991000	0.58162	0.379000	0.24179	TTC		0.677	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1	NM_016246		C	49316535	A	C	49316535	3	2	295	1	0	0	0	0	1	0	0	0	7385	246	9	5	106	5	HSD17B14	19	49316535	Missense_Mutation	SNP	A	TCGA-B9-4116-01A-01D-1252-08	30352727	49316535	9812448	68	17541											
NKX2-4	644524	hgsc.bcm.edu	37	20	21376576	21376576	+	Silent	SNP	G	G	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr20:21376576G>T	ENST00000351817.4	-	2	1666	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	346					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						AGAGCAGGTTGGCGCCCAGGA	0.736																																																0													18	19	18					20																	21376576		1266	2943	4209	SO:0001819	synonymous_variant	644524				CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"Homeoboxes / ANTP class : NKL subclass"	7837	protein-coding gene	gene with protein product		607808	"NK-2 (Drosophila) homolog D", "NK2 transcription factor related, locus 4 (Drosophila)"	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.1038C>A	chr20.hg19:g.21376576G>T			Q5VZV8	Silent	SNP	ENST00000351817.4	hg19	CCDS42855.1																																																																																				0.736	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			T	21376576	G	T	21376576	2	4	295	1	0	0	0	0	0	0	0	1	10454	1335	47	4		4	NKX2-4	20	21376576	Silent	SNP	G	TCGA-B9-4116-01A-01D-1252-08		21376576	41648944	69	17542											
CEP250	11190	hgsc.bcm.edu	37	20	34091451	34091451	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr20:34091451delA	ENST00000397527.1	+	30	5974	c.5254delA	c.(5254-5256)aaafs	p.K1752fs	CEP250_ENST00000342580.4_Frame_Shift_Del_p.K1696fs	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1752	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCAGGAGCTCAAAGACCAGCT	0.577																																																0													81	80	80					20																	34091451		2203	4300	6503	SO:0001589	frameshift_variant	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5254delA	chr20.hg19:g.34091451delA	ENSP00000380661:p.Lys1752fs		E1P5Q3|O14812|O60588|Q9H450	Frame_Shift_Del	DEL	ENST00000397527.1	hg19	CCDS13255.1																																																																																				0.577	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		-	34091451	A	-	34091451	7	5	295	1	0	1	0	1	0	0	0	0	3254	131	5	0	5360	0	CEP250	20	34091451	Frame_Shift_Del	DEL	A	TCGA-B9-4116-01A-01D-1252-08	12714875	34091451	28934069	70	17543											
ACTR5	79913	hgsc.bcm.edu	37	20	37400319	37400319	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr20:37400319G>C	ENST00000243903.4	+	9	1721	c.1684G>C	c.(1684-1686)Gga>Cga	p.G562R		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	562					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AGAAAAGGGAGGAGAGTACCT	0.557																																																0													108	88	94					20																	37400319		2203	4300	6503	SO:0001583	missense	79913			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1684G>C	chr20.hg19:g.37400319G>C	ENSP00000243903:p.Gly562Arg		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	hg19	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160871	0.94727	.	.	ENSG00000101442	ENST00000243903	T	0.07688	3.17	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00166	-1.1966	10	0.87932	D	0	-21.9656	20.6086	0.99469	0.0:0.0:1.0:0.0	.	562	Q9H9F9	ARP5_HUMAN	R	562	ENSP00000243903:G562R	ENSP00000243903:G562R	G	+	1	0	ACTR5	36833733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.960000	0.93117	2.880000	0.98712	0.655000	0.94253	GGA		0.557	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		C	37400319	G	C	37400319	3	2	295	1	0	0	0	0	1	0	0	0	215	1001	35	4	1718	4	ACTR5	20	37400319	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	3308868	37400319	25625201	71	17544											
ZNFX1	57169	hgsc.bcm.edu	37	20	47864026	47864027	+	Missense_Mutation	DNP	GT	GT	AG			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr20:47864026_47864027GT>AG	ENST00000396105.1	-	14	5780_5781	c.5534_5535AC>CT	c.(5533-5535)cAC>cCT	p.H1845P	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.H1845P|ZNFX1_ENST00000469991.1_5'Flank	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1845							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTTGAACCAGTGACCACGAGG	0.545																																																0																																										SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5534_5535delinsAG	chr20.hg19:g.47864026_47864027delinsAG	ENSP00000379412:p.His1845Pro		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent|Missense_Mutation	SNP	ENST00000396105.1	hg19	CCDS13417.1																																																																																				0.545	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		AG	47864027	GT	AG	47864026	3	1	295	1	0	0	0	0	1	0	0	0	18210	1020	36	2	225	2	ZNFX1	20	47864026	Missense_Mutation	DNP	GT	TCGA-B9-4116-01A-01D-1252-08	10463707	47864026	15161494	72	17545											
ZRSR2	8233	hgsc.bcm.edu	37	X	15841260	15841260	+	Silent	SNP	C	C	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chrX:15841260C>G	ENST00000307771.7	+	11	1368	c.1344C>G	c.(1342-1344)cgC>cgG	p.R448R		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	448	Arg/Ser-rich (RS domain).				mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					gccggagccgCAGGAGCCGCC	0.647			"F, S, Mis"		"MDS, CLL"																																NSCLC(197;1631 3042 5741 31152)		Rec	yes		X	Xp22.1	8233	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"		L	0													7	9	9					X																	15841260		1924	3790	5714	SO:0001819	synonymous_variant	8233			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1344C>G	chrX.hg19:g.15841260C>G			Q14D69	Silent	SNP	ENST00000307771.7	hg19	CCDS14172.1																																																																																				0.647	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		G	15841260	C	G	15841260	2	3	295	1	0	0	0	0	0	0	0	1	18230	697	25	4		4	ZRSR2	23	15841260	Silent	SNP	C	TCGA-B9-4116-01A-01D-1252-08		15841260	139429300	73	17546											
SHROOM4	57477	hgsc.bcm.edu	37	X	50350751	50350751	+	Missense_Mutation	SNP	G	G	C	rs201290098		TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chrX:50350751G>C	ENST00000289292.7	-	6	3674	c.3391C>G	c.(3391-3393)Cag>Gag	p.Q1131E	SHROOM4_ENST00000376020.2_Missense_Mutation_p.Q1131E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q1015E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1131	Gln-rich.			KQQ -> QQQQKQQE (in Ref. 1; BAA86516 and 3; AAI51241). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					tcctcctcctgttgcttctgc	0.582																																																0													15	14	15					X																	50350751		2199	4294	6493	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3391C>G	chrX.hg19:g.50350751G>C	ENSP00000289292:p.Gln1131Glu		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	hg19	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.554911	0.00918	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.06449	3.3;3.3;3.3	4.89	-0.0454	0.13851	.	1.383290	0.04423	N	0.367895	T	0.03827	0.0108	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36456	-0.9747	10	0.02654	T	1	.	4.0399	0.09746	0.093:0.4322:0.3193:0.1556	.	1131	Q9ULL8	SHRM4_HUMAN	E	1131;1131;1015	ENSP00000289292:Q1131E;ENSP00000365188:Q1131E;ENSP00000421450:Q1015E	ENSP00000289292:Q1131E	Q	-	1	0	SHROOM4	50367491	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.374000	0.20501	-0.047000	0.13423	-0.434000	0.05882	CAG		0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		C	50350751	G	C	50350751	3	2	295	1	0	0	0	0	1	0	0	0	14302	1386	48	4	1106	4	SHROOM4	23	50350751	Missense_Mutation	SNP	G	TCGA-B9-4116-01A-01D-1252-08	34509491	50350751	104919809	74	17547											
SCMH1	22955	hgsc.bcm.edu	37	1	41579112	41579113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:41579112_41579113insG	ENST00000326197.7	-	7	856_857	c.557_558insC	c.(556-558)ccafs	p.P186fs	SCMH1_ENST00000402904.2_Frame_Shift_Ins_p.P186fs|SCMH1_ENST00000372597.1_Frame_Shift_Ins_p.P139fs|SCMH1_ENST00000337495.5_Frame_Shift_Ins_p.P196fs|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397171.2_Frame_Shift_Ins_p.P125fs|SCMH1_ENST00000397174.2_Frame_Shift_Ins_p.P166fs|SCMH1_ENST00000361191.5_Frame_Shift_Ins_p.P125fs|SCMH1_ENST00000372595.1_Frame_Shift_Ins_p.P125fs|SCMH1_ENST00000361705.3_Frame_Shift_Ins_p.P139fs|SCMH1_ENST00000372596.1_Frame_Shift_Ins_p.P125fs					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CAATAGTGGCTGGGCAAATGAA	0.53																																																0																																										SO:0001589	frameshift_variant	22955			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.558dupC	chr1.hg19:g.41579115_41579115dupG	ENSP00000318094:p.Pro186fs			Frame_Shift_Ins	INS	ENST00000326197.7	hg19	CCDS30688.1																																																																																				0.53	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			G	41579113	-	G	41579112	7	5	296	1	0	1	1	0	0	0	0	0	13914	1567	55	0	1460	0	SCMH1	1	41579112	Frame_Shift_Ins	INS	-	TCGA-B9-4117-01A-01D-1252-08		41579112	207671509	1	17548											
OR2M7	391196	hgsc.bcm.edu	37	1	248487257	248487257	+	Missense_Mutation	SNP	A	A	C	rs144715512		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:248487257A>C	ENST00000317965.2	-	1	642	c.614T>G	c.(613-615)gTa>gGa	p.V205G		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACAAGCATTACTATACAGCA	0.433																																																0													287	275	279					1																	248487257		2203	4300	6503	SO:0001583	missense	391196			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.614T>G	chr1.hg19:g.248487257A>C	ENSP00000324557:p.Val205Gly		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	hg19	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	A	8.086	0.773543	0.16051	.	.	ENSG00000177186	ENST00000317965	T	0.39229	1.09	1.55	0.00354	0.14055	GPCR, rhodopsin-like superfamily (1);	1.653810	0.04603	U	0.398866	T	0.34948	0.0915	L	0.45285	1.41	0.09310	N	1	B	0.15719	0.014	B	0.26770	0.073	T	0.43750	-0.9372	10	0.72032	D	0.01	.	2.386	0.04365	0.5781:0.0:0.1782:0.2437	.	205	Q8NG81	OR2M7_HUMAN	G	205	ENSP00000324557:V205G	ENSP00000324557:V205G	V	-	2	0	OR2M7	246553880	0.000000	0.05858	0.061000	0.19648	0.178000	0.23041	0.670000	0.25157	0.708000	0.31955	0.163000	0.16589	GTA		0.433	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		C	248487257	A	C	248487257	3	2	296	1	0	0	0	0	1	0	0	0	11016	391	14	5	327	5	OR2M7	1	248487257	Missense_Mutation	SNP	A	TCGA-B9-4117-01A-01D-1252-08	206908145	248487257	763364	2	17549											
TMEM214	54867	hgsc.bcm.edu	37	2	27259433	27259433	+	Missense_Mutation	SNP	T	T	G	rs564964647		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:27259433T>G	ENST00000238788.9	+	6	861	c.799T>G	c.(799-801)Ttt>Gtt	p.F267V	TMEM214_ENST00000404032.3_Missense_Mutation_p.F222V	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	267					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCAAGCAGGTTTTGCCAACCT	0.567																																																0													103	103	103					2																	27259433		1943	4141	6084	SO:0001583	missense	54867				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.799T>G	chr2.hg19:g.27259433T>G	ENSP00000238788:p.Phe267Val		A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	hg19	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873746	0.91664	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397	T;T	0.52295	0.67;0.67	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.74258	2.255	0.80722	D	1	D;P	0.56746	0.977;0.917	P;P	0.57679	0.794;0.825	T	0.65417	-0.6173	10	0.42905	T	0.14	-14.1771	15.3509	0.74384	0.0:0.0:0.0:1.0	.	222;267	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	V	267;222;9	ENSP00000238788:F267V;ENSP00000384417:F222V	ENSP00000238788:F267V	F	+	1	0	TMEM214	27112937	1.000000	0.71417	0.436000	0.26797	0.968000	0.65278	7.508000	0.81686	2.128000	0.65567	0.459000	0.35465	TTT		0.567	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		G	27259433	T	G	27259433	3	3	296	1	0	0	0	0	1	0	0	0	16142	1841	64	5	821	5	TMEM214	2	27259433	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08		27259433	215939940	3	17550											
CGREF1	10669	hgsc.bcm.edu	37	2	27327221	27327221	+	Missense_Mutation	SNP	G	G	T	rs112618911		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:27327221G>T	ENST00000260595.5	-	2	306	c.14C>A	c.(13-15)aCg>aAg	p.T5K	CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.T5K|CGREF1_ENST00000402394.1_Missense_Mutation_p.T5K|CGREF1_ENST00000312734.4_Missense_Mutation_p.T5K|CGREF1_ENST00000404694.3_Missense_Mutation_p.T127K|CGREF1_ENST00000402550.1_Missense_Mutation_p.T5K			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	5					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTCATCGTCAAAGGTAA	0.567																																																0													67	59	62					2																	27327221		2203	4300	6503	SO:0001583	missense	10669			BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.14C>A	chr2.hg19:g.27327221G>T	ENSP00000260595:p.Thr5Lys		A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	hg19		.	.	.	.	.	.	.	.	.	.	A	13.14	2.147472	0.37923	.	.	ENSG00000138028	ENST00000402550;ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.73	-7.65	0.01281	.	1.833840	0.02770	N	0.119586	T	0.16300	0.0392	N	0.12182	0.205	0.09310	N	1	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.06405	0.002;0.002;0.002	T	0.20638	-1.0269	10	0.44086	T	0.13	-10.5345	8.4971	0.33134	0.1308:0.0:0.5748:0.2945	.	127;5;5	B5MCC9;B5MCP5;Q99674	.;.;CGRE1_HUMAN	K	5;5;5;5;5;127;5	ENSP00000385452:T5K;ENSP00000386113:T5K;ENSP00000324025:T5K;ENSP00000385574:T127K;ENSP00000260595:T5K	ENSP00000260595:T5K	T	-	2	0	CGREF1	27180725	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.719000	0.04974	-2.518000	0.00499	-1.007000	0.02485	ACG		0.567	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		T	27327221	G	T	27327221	3	4	296	1	0	0	0	0	1	0	0	0	3307	1145	40	4	1154	4	CGREF1	2	27327221	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	67788	27327221	215872152	4	17551											
CEBPZ	10153	hgsc.bcm.edu	37	2	37454852	37454852	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:37454852G>A	ENST00000234170.5	-	2	1629	c.1484C>T	c.(1483-1485)cCt>cTt	p.P495L		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	495					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CTGGGAATAAGGGTATGCCCT	0.368																																																0													83	79	80					2																	37454852		2203	4300	6503	SO:0001583	missense	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1484C>T	chr2.hg19:g.37454852G>A	ENSP00000234170:p.Pro495Leu		Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	hg19	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952289	0.73787	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.24538	1.85	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74247	-0.3727	10	0.87932	D	0	.	19.6055	0.95580	0.0:0.0:1.0:0.0	.	495	Q03701	CEBPZ_HUMAN	L	495	ENSP00000234170:P495L	ENSP00000234170:P495L	P	-	2	0	CEBPZ	37308356	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	9.296000	0.96104	2.631000	0.89168	0.650000	0.86243	CCT		0.368	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		A	37454852	G	A	37454852	3	1	296	1	0	0	0	0	1	0	0	0	3206	1000	35	2	1740	2	CEBPZ	2	37454852	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	10127631	37454852	205744521	5	17552											
GPR45	11250	hgsc.bcm.edu	37	2	105858582	105858582	+	Silent	SNP	C	C	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:105858582C>G	ENST00000258456.1	+	1	383	c.267C>G	c.(265-267)ccC>ccG	p.P89P		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCTGCATGCCCTTCACCGCCG	0.627																																																0													125	115	118					2																	105858582		2203	4300	6503	SO:0001819	synonymous_variant	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.267C>G	chr2.hg19:g.105858582C>G			Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	hg19	CCDS2066.1																																																																																				0.627	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		G	105858582	C	G	105858582	2	3	296	1	0	0	0	0	0	0	0	1	6698	668	24	4		4	GPR45	2	105858582	Silent	SNP	C	TCGA-B9-4117-01A-01D-1252-08	68403730	105858582	137340791	6	17553											
TFCP2L1	29842	hgsc.bcm.edu	37	2	122042681	122042681	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:122042681A>T	ENST00000263707.5	-	1	102	c.5T>A	c.(4-6)cTc>cAc	p.L2H		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	2	Mediate transcriptional repression.				cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GTGCCAGAAGAGCATGGCTGG	0.756																																																0													17	16	16					2																	122042681		2192	4286	6478	SO:0001583	missense	29842			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.5T>A	chr2.hg19:g.122042681A>T	ENSP00000263707:p.Leu2His		Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	hg19	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	a	17.41	3.381885	0.61845	.	.	ENSG00000115112	ENST00000263707	T	0.26373	1.74	4.1	4.1	0.47936	.	0.097761	0.43747	U	0.000539	T	0.39835	0.1093	L	0.38175	1.15	0.58432	D	0.999999	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.832	T	0.29518	-1.0009	10	0.87932	D	0	.	12.7432	0.57266	1.0:0.0:0.0:0.0	.	2;2	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	H	2	ENSP00000263707:L2H	ENSP00000263707:L2H	L	-	2	0	TFCP2L1	121759151	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	6.622000	0.74233	1.467000	0.48044	0.398000	0.26397	CTC		0.756	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		T	122042681	A	T	122042681	3	4	296	1	0	0	0	0	1	0	0	0	15801	304	11	5	1494	5	TFCP2L1	2	122042681	Missense_Mutation	SNP	A	TCGA-B9-4117-01A-01D-1252-08	16184099	122042681	121156692	7	17554											
ALS2	57679	hgsc.bcm.edu	37	2	202626257	202626257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:202626257G>A	ENST00000264276.6	-	4	832	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Nonsense_Mutation_p.Q154*	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	154					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CACGCCAACTGTAAAATCCTG	0.522																																																0													79	79	79					2																	202626257		2073	4196	6269	SO:0001587	stop_gained	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.460C>T	chr2.hg19:g.202626257G>A	ENSP00000264276:p.Gln154*		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Nonsense_Mutation	SNP	ENST00000264276.6	hg19	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582281	0.86748	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	.	.	.	6.17	6.17	0.99709	.	0.056382	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	154	.	ENSP00000264276:Q154X	Q	-	1	0	ALS2	202334502	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.405000	0.66351	2.941000	0.99782	0.655000	0.94253	CAG		0.522	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		A	202626257	G	A	202626257	4	1	296	1	0	0	0	0	0	1	0	0	550	1386	48	2	4715	2	ALS2	2	202626257	Nonsense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	80583576	202626257	40573116	8	17555											
CIDEC	63924	hgsc.bcm.edu	37	3	9911862	9911862	+	Missense_Mutation	SNP	G	G	C	rs201802471|rs368273807		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr3:9911862G>C	ENST00000336832.2	-	4	491	c.352C>G	c.(352-354)Ccc>Gcc	p.P118A	CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.P44A|CIDEC_ENST00000455015.1_Missense_Mutation_p.P44A|CIDEC_ENST00000430427.1_Missense_Mutation_p.P128A|CIDEC_ENST00000443115.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	118	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					TCTGATGGGGGCTGCCATTTC	0.542																																																0													70	72	72					3																	9911862		2203	4300	6503	SO:0001583	missense	63924				CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.352C>G	chr3.hg19:g.9911862G>C	ENSP00000338642:p.Pro118Ala		C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	hg19	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265024	0.40095	.	.	ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.78	1.72	0.24424	Caspase-activated nuclease CIDE-N (2);	0.213000	0.49916	N	0.000130	T	0.47040	0.1424	M	0.71036	2.16	0.80722	D	1	B;B	0.33528	0.034;0.416	B;B	0.40506	0.026;0.331	T	0.33701	-0.9858	10	0.51188	T	0.08	-13.7547	5.8544	0.18712	0.2576:0.1378:0.6046:0.0	.	118;128	Q96AQ7;C9JMN7	CIDEC_HUMAN;.	A	118;44;44;128	ENSP00000338642:P118A;ENSP00000392975:P44A;ENSP00000400649:P44A;ENSP00000408631:P128A	ENSP00000338642:P118A	P	-	1	0	CIDEC	9886862	0.940000	0.31905	0.348000	0.25681	0.967000	0.64934	1.716000	0.37981	0.025000	0.15241	0.461000	0.40582	CCC		0.542	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		C	9911862	G	C	9911862	3	2	296	1	0	0	0	0	1	0	0	0	3429	1203	42	4	376	4	CIDEC	3	9911862	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08		9911862	188110568	9	17556											
DTX3L	151636	hgsc.bcm.edu	37	3	122283388	122283388	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr3:122283388G>T	ENST00000296161.4	+	1	304	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	DTX3L_ENST00000383661.3_Missense_Mutation_p.G39W|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000360356.2_5'UTR|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000471785.1_5'Flank|PARP9_ENST00000477522.2_5'UTR	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	39					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CTCGGGCGGCGGGGAGTGCAC	0.672																																																0													48	57	54					3																	122283388		2203	4299	6502	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.115G>T	chr3.hg19:g.122283388G>T	ENSP00000296161:p.Gly39Trp		B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	hg19	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152626	0.57259	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.69040	0.13;-0.37	4.59	4.59	0.56863	.	0.000000	0.47455	D	0.000228	T	0.81749	0.4888	M	0.80982	2.52	0.37919	D	0.931622	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86218	0.1629	10	0.87932	D	0	-25.6532	14.2431	0.65971	0.0:0.0:1.0:0.0	.	39;39	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	W	39	ENSP00000296161:G39W;ENSP00000373157:G39W	ENSP00000296161:G39W	G	+	1	0	DTX3L	123766078	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	5.884000	0.69729	2.342000	0.79632	0.655000	0.94253	GGG		0.672	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		T	122283388	G	T	122283388	3	4	296	1	0	0	0	0	1	0	0	0	4798	1116	39	4	117	4	DTX3L	3	122283388	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	112371526	122283388	75739042	10	17557											
FAM43A	131583	hgsc.bcm.edu	37	3	194408136	194408136	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr3:194408136A>G	ENST00000329759.4	+	1	1515	c.581A>G	c.(580-582)aAc>aGc	p.N194S		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	194										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		ACGTCGGCCAACGCGCTGGCG	0.672																																																0													5	4	4					3																	194408136		2020	3974	5994	SO:0001583	missense	131583			AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.581A>G	chr3.hg19:g.194408136A>G	ENSP00000371397:p.Asn194Ser		A3KME2|Q8IXP4|Q8WZ07	Missense_Mutation	SNP	ENST00000329759.4	hg19	CCDS33923.1	.	.	.	.	.	.	.	.	.	.	A	8.875	0.950325	0.18431	.	.	ENSG00000185112	ENST00000329759	T	0.62364	0.03	5.07	3.85	0.44370	Pleckstrin homology-type (1);	0.222998	0.44688	D	0.000422	T	0.40119	0.1104	N	0.13098	0.295	0.31328	N	0.685214	B	0.33171	0.4	B	0.33960	0.173	T	0.40403	-0.9565	10	0.07644	T	0.81	-38.1095	12.0384	0.53438	0.8111:0.1889:0.0:0.0	.	194	Q8N2R8	FA43A_HUMAN	S	194	ENSP00000371397:N194S	ENSP00000371397:N194S	N	+	2	0	FAM43A	195889425	0.999000	0.42202	1.000000	0.80357	0.903000	0.53119	3.528000	0.53524	1.913000	0.55393	0.379000	0.24179	AAC		0.672	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690		G	194408136	A	G	194408136	3	3	296	1	0	0	0	0	1	0	0	0	5564	43	2	3	583	3	FAM43A	3	194408136	Missense_Mutation	SNP	A	TCGA-B9-4117-01A-01D-1252-08	72124748	194408136	3614294	11	17558											
PDCD6	10016	hgsc.bcm.edu	37	5	311485	311485	+	Missense_Mutation	SNP	G	G	A	rs368897410		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:311485G>A	ENST00000264933.4	+	5	545	c.445G>A	c.(445-447)Gac>Aac	p.D149N	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000505113.1_Intron|PDCD6_ENST00000511482.1_3'UTR|PDCD6_ENST00000505221.1_Intron|PDCD6_ENST00000507528.1_Missense_Mutation_p.D147N|AHRR_ENST00000316418.5_Intron	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6	149	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			GATTGCCTTCGACGACTTCAT	0.582																																																0								G	,ASN/ASP,	1,4405	2.1+/-5.4	0,1,2202	92	76	81		,445,	5.7	0.9	5		81	0,8600		0,0,4300	no	intron,missense,intron	PDCD6,AHRR	NM_001242412.1,NM_013232.3,NM_020731.4	,23,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,probably-damaging,	,149/192,	311485	1,13005	2203	4300	6503	SO:0001583	missense	10016			AF035606	CCDS3854.1, CCDS58940.1, CCDS58941.1, CCDS75222.1, CCDS75223.1	5p15.33	2013-01-10			ENSG00000249915	ENSG00000249915		"EF-hand domain containing"	8765	protein-coding gene	gene with protein product	"apoptosis-linked gene-2"	601057				8560270	Standard	NM_013232		Approved	ALG-2, PEF1B	uc003jat.1	O75340	OTTHUMG00000090283	ENST00000264933.4:c.445G>A	chr5.hg19:g.311485G>A	ENSP00000264933:p.Asp149Asn		B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000264933.4	hg19	CCDS3854.1	.	.	.	.	.	.	.	.	.	.	g	36	5.640171	0.96693	2.27E-4	0.0	ENSG00000249915	ENST00000264933;ENST00000507528;ENST00000507473	T;T;T	0.79141	1.36;1.36;-1.24	5.72	5.72	0.89469	EF-hand-like domain (1);	.	.	.	.	D	0.88789	0.6532	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.89735	0.3929	9	0.87932	D	0	.	17.3651	0.87362	0.0:0.0:1.0:0.0	.	147;149	Q2YDC2;O75340	.;PDCD6_HUMAN	N	149;147;62	ENSP00000264933:D149N;ENSP00000423815:D147N;ENSP00000425370:D62N	ENSP00000264933:D149N	D	+	1	0	PDCD6	364485	1.000000	0.71417	0.914000	0.36105	0.835000	0.47333	9.347000	0.97059	2.692000	0.91855	0.655000	0.94253	GAC		0.582	PDCD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206609.2	NM_013232		A	311485	G	A	311485	3	1	296	1	0	0	0	0	1	0	0	0	11625	1058	37	1	463	1	PDCD6	5	311485	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08		311485	180603775	12	17559											
NSUN2	54888	hgsc.bcm.edu	37	5	6616902	6616902	+	Missense_Mutation	SNP	G	G	T	rs138724893		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:6616902G>T	ENST00000264670.6	-	9	1270	c.959C>A	c.(958-960)aCg>aAg	p.T320K	NSUN2_ENST00000539938.1_Missense_Mutation_p.T84K|NSUN2_ENST00000506139.1_Missense_Mutation_p.T285K	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	320					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.T320M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TAGTGAACACGTGGAATACAC	0.468																																																1	Substitution - Missense(1)	prostate(1)											151	133	139					5																	6616902		2203	4300	6503	SO:0001583	missense	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.959C>A	chr5.hg19:g.6616902G>T	ENSP00000264670:p.Thr320Lys		A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	hg19	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517699	0.85495	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.26810	1.71;1.71;1.71	5.56	4.69	0.59074	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.092104	0.85682	D	0.000000	T	0.70133	0.3189	H	0.99507	4.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84435	0.0579	10	0.87932	D	0	-41.0989	14.8419	0.70233	0.0693:0.0:0.9307:0.0	.	285;320	B4DQW2;Q08J23	.;NSUN2_HUMAN	K	320;84;285	ENSP00000264670:T320K;ENSP00000444338:T84K;ENSP00000420957:T285K	ENSP00000264670:T320K	T	-	2	0	NSUN2	6669902	1.000000	0.71417	0.047000	0.18901	0.855000	0.48748	8.772000	0.91757	1.498000	0.48600	0.650000	0.86243	ACG		0.468	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		T	6616902	G	T	6616902	3	4	296	1	0	0	0	0	1	0	0	0	10680	1145	40	4	1388	4	NSUN2	5	6616902	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	6305417	6616902	174298358	13	17560											
MEGF10	84466	hgsc.bcm.edu	37	5	126753406	126753406	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:126753406G>A	ENST00000274473.6	+	11	1474	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R	MEGF10_ENST00000508365.1_Missense_Mutation_p.G403R|MEGF10_ENST00000503335.2_Missense_Mutation_p.G403R|MEGF10_ENST00000418761.2_Missense_Mutation_p.G403R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	403	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGTTCTCCTGGATTCTACGG	0.532																																																0													121	103	109					5																	126753406		2203	4300	6503	SO:0001583	missense	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1207G>A	chr5.hg19:g.126753406G>A	ENSP00000274473:p.Gly403Arg		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	hg19	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226760	0.95173	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.69	5.69	0.88448	EGF-like, laminin (2);	0.000000	0.64402	D	0.000001	D	0.89392	0.6702	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.90450	0.4438	10	0.44086	T	0.13	-11.0125	19.8251	0.96614	0.0:0.0:1.0:0.0	.	403;403	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	R	403	ENSP00000423354:G403R;ENSP00000423195:G403R;ENSP00000416284:G403R;ENSP00000274473:G403R	ENSP00000274473:G403R	G	+	1	0	MEGF10	126781305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.692000	0.91855	0.655000	0.94253	GGA		0.532	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		A	126753406	G	A	126753406	3	1	296	1	0	0	0	0	1	0	0	0	9462	1349	47	2	1241	2	MEGF10	5	126753406	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	120136504	126753406	54161854	14	17561											
FLT4	2324	hgsc.bcm.edu	37	5	180052935	180052936	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:180052935_180052936insG	ENST00000261937.6	-	10	1432_1433	c.1354_1355insC	c.(1354-1356)ctgfs	p.L452fs	FLT4_ENST00000393347.3_Frame_Shift_Ins_p.L452fs|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Frame_Shift_Ins_p.L452fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	452	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGAGAGGCAGGGGCACCCCG	0.649																																					Colon(97;1075 1466 27033 27547 35871)											0																																										SO:0001589	frameshift_variant	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1355dupC	chr5.hg19:g.180052939_180052939dupG	ENSP00000261937:p.Leu452fs		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Frame_Shift_Ins	INS	ENST00000261937.6	hg19	CCDS4457.1																																																																																				0.649	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			G	180052936	-	G	180052935	7	5	296	1	0	1	1	0	0	0	0	0	5946	188	7	0	2828	0	FLT4	5	180052935	Frame_Shift_Ins	INS	-	TCGA-B9-4117-01A-01D-1252-08	53299529	180052935	862325	15	17562											
TFAP2A	7020	hgsc.bcm.edu	37	6	10398708	10398708	+	Missense_Mutation	SNP	T	T	G	rs201591227		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr6:10398708T>G	ENST00000482890.1	-	8	1608	c.1256A>C	c.(1255-1257)aAc>aCc	p.N419T	TFAP2A_ENST00000319516.4_Missense_Mutation_p.N415T|TFAP2A_ENST00000379604.2_Missense_Mutation_p.N419T|TFAP2A_ENST00000379608.3_Missense_Mutation_p.N413T|TFAP2A_ENST00000379613.3_Missense_Mutation_p.N421T|TFAP2A_ENST00000497266.1_5'Flank			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	419					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGTGTGGCTGTTGGGGTTGTT	0.622																																																0													317	330	326					6																	10398708		2203	4300	6503	SO:0001583	missense	7020			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1256A>C	chr6.hg19:g.10398708T>G	ENSP00000418541:p.Asn419Thr		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	hg19	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825513	0.32237	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25	5.41	5.41	0.78517	.	0.042320	0.85682	D	0.000000	D	0.97247	0.9100	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.993;0.983;0.998	D;P;D	0.83275	0.968;0.829;0.996	D	0.96866	0.9636	10	0.34782	T	0.22	-13.6146	15.4442	0.75216	0.0:0.0:0.0:1.0	.	415;419;413	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	T	421;419;415;413;419	ENSP00000368933:N421T;ENSP00000368924:N419T;ENSP00000316516:N415T;ENSP00000368928:N413T;ENSP00000418541:N419T	ENSP00000316516:N415T	N	-	2	0	TFAP2A	10506694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.249000	0.58766	2.048000	0.60808	0.533000	0.62120	AAC		0.622	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		G	10398708	T	G	10398708	3	3	296	1	0	0	0	0	1	0	0	0	15792	1725	60	5	61	5	TFAP2A	6	10398708	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08		10398708	160716359	16	17563											
CAP2	10486	hgsc.bcm.edu	37	6	17507928	17507928	+	Silent	SNP	T	T	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr6:17507928T>C	ENST00000229922.2	+	6	1033	c.501T>C	c.(499-501)acT>acC	p.T167T	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Intron|CAP2_ENST00000378990.2_Silent_p.T141T	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	167					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCTTTTACACTAACAGGGTCT	0.413																																																0													138	124	129					6																	17507928		2203	4300	6503	SO:0001819	synonymous_variant	10486			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.501T>C	chr6.hg19:g.17507928T>C			B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	ENST00000229922.2	hg19	CCDS4539.1																																																																																				0.413	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			C	17507928	T	C	17507928	2	2	296	1	0	0	0	0	0	0	0	1	2622	1509	53	3		3	CAP2	6	17507928	Silent	SNP	T	TCGA-B9-4117-01A-01D-1252-08	7109220	17507928	153607139	17	17564											
HIST1H1C	3006	hgsc.bcm.edu	37	6	26056427	26056427	+	Missense_Mutation	SNP	T	T	G	rs182693914		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr6:26056427T>G	ENST00000343677.2	-	1	272	c.230A>C	c.(229-231)aAc>aCc	p.N77T		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	77	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GATACGGCTGTTGTTTTTCTC	0.527																																																0													106	111	109					6																	26056427		2203	4300	6503	SO:0001583	missense	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.230A>C	chr6.hg19:g.26056427T>G	ENSP00000339566:p.Asn77Thr		A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	hg19	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688031	0.68271	.	.	ENSG00000187837	ENST00000343677	T	0.08984	3.03	5.63	5.63	0.86233	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.152097	0.56097	D	0.000023	T	0.24275	0.0588	M	0.85945	2.785	0.80722	D	1	D	0.64830	0.994	D	0.71870	0.975	T	0.02617	-1.1133	10	0.66056	D	0.02	-32.5039	15.3144	0.74062	0.0:0.0:0.0:1.0	.	77	P16403	H12_HUMAN	T	77	ENSP00000339566:N77T	ENSP00000339566:N77T	N	-	2	0	HIST1H1C	26164406	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	6.087000	0.71362	2.271000	0.75665	0.533000	0.62120	AAC		0.527	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		G	26056427	T	G	26056427	3	3	296	1	0	0	0	0	1	0	0	0	7126	1725	60	5	415	5	HIST1H1C	6	26056427	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08	8548499	26056427	145058640	18	17565											
URGCP	55665	hgsc.bcm.edu	37	7	43916495	43916495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr7:43916495delC	ENST00000453200.1	-	6	3060	c.2567delG	c.(2566-2568)ggcfs	p.G856fs	URGCP_ENST00000443736.1_Frame_Shift_Del_p.G813fs|URGCP_ENST00000402306.3_Frame_Shift_Del_p.G847fs|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Frame_Shift_Del_p.G813fs|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Frame_Shift_Del_p.G813fs|URGCP_ENST00000223341.7_Frame_Shift_Del_p.G813fs			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	856	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCCGTCGCCCTGTTTCTC	0.637																																																0													29	31	30					7																	43916495		1994	4175	6169	SO:0001589	frameshift_variant	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2567delG	chr7.hg19:g.43916495delC	ENSP00000396918:p.Gly856fs		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Frame_Shift_Del	DEL	ENST00000453200.1	hg19	CCDS47578.1																																																																																				0.637	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		-	43916495	C	-	43916495	7	5	296	1	0	1	0	1	0	0	0	0	17031	739	26	0	232	0	URGCP	7	43916495	Frame_Shift_Del	DEL	C	TCGA-B9-4117-01A-01D-1252-08		43916495	115222168	19	17566											
CAV2	858	hgsc.bcm.edu	37	7	116140377	116140377	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr7:116140377T>A	ENST00000222693.4	+	2	606	c.214T>A	c.(214-216)Tgc>Agc	p.C72S	AC002066.1_ENST00000446355.2_RNA|CAV2_ENST00000393480.2_Missense_Mutation_p.C72S|CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	72					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			AGTGTGGATCTGCAGCCATGC	0.542																																																0													169	138	149					7																	116140377		2203	4300	6503	SO:0001583	missense	858			AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.214T>A	chr7.hg19:g.116140377T>A	ENSP00000222693:p.Cys72Ser		A4D0U2|Q9UGM7	Missense_Mutation	SNP	ENST00000222693.4	hg19	CCDS5766.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420268	0.83559	.	.	ENSG00000105971	ENST00000222693;ENST00000393480	D;D	0.92249	-3.0;-3.0	4.6	4.6	0.57074	.	0.193833	0.56097	D	0.000032	D	0.93213	0.7838	M	0.85197	2.74	0.39643	D	0.970342	P	0.35656	0.514	B	0.41135	0.348	D	0.93194	0.6586	10	0.36615	T	0.2	-15.4697	14.2879	0.66258	0.0:0.0:0.0:1.0	.	72	P51636	CAV2_HUMAN	S	72	ENSP00000222693:C72S;ENSP00000377120:C72S	ENSP00000222693:C72S	C	+	1	0	CAV2	115927613	0.972000	0.33761	1.000000	0.80357	0.995000	0.86356	1.530000	0.36007	1.828000	0.53243	0.460000	0.39030	TGC		0.542	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233		A	116140377	T	A	116140377	3	1	296	1	0	0	0	0	1	0	0	0	2696	1580	55	5	220	5	CAV2	7	116140377	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08	72223882	116140377	42998286	20	17567											
DPYSL2	1808	hgsc.bcm.edu	37	8	26505196	26505196	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr8:26505196T>A	ENST00000311151.5	+	11	1573	c.1161T>A	c.(1159-1161)aaT>aaA	p.N387K	DPYSL2_ENST00000521913.1_Missense_Mutation_p.N351K|DPYSL2_ENST00000523027.1_Missense_Mutation_p.N351K	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	387					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CCAGCACCAATGCAGCCAAAG	0.552																																																0													133	121	125					8																	26505196		2203	4300	6503	SO:0001583	missense	1808			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1161T>A	chr8.hg19:g.26505196T>A	ENSP00000309539:p.Asn387Lys		A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	hg19	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898016	0.72639	.	.	ENSG00000092964	ENST00000545637;ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.22	-6.76	0.01732	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96144	0.8743	M	0.92367	3.3	0.53688	D	0.999974	D;P	0.76494	0.999;0.835	D;B	0.83275	0.996;0.269	D	0.94988	0.8132	10	0.66056	D	0.02	-27.4582	18.9516	0.92643	0.0:0.601:0.0:0.399	.	387;443	Q16555;Q59GB4	DPYL2_HUMAN;.	K	26;351;387;387;351	ENSP00000427985:N351K;ENSP00000309539:N387K;ENSP00000428909:N387K;ENSP00000431117:N351K	ENSP00000309539:N387K	N	+	3	2	DPYSL2	26561113	0.000000	0.05858	0.783000	0.31826	0.973000	0.67179	-2.232000	0.01205	-1.277000	0.02411	-1.098000	0.02139	AAT		0.552	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		A	26505196	T	A	26505196	3	1	296	1	0	0	0	0	1	0	0	0	4749	1461	51	5	1203	5	DPYSL2	8	26505196	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08		26505196	119858826	21	17568											
TLN1	7094	hgsc.bcm.edu	37	9	35711016	35711016	+	Silent	SNP	C	C	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr9:35711016C>T	ENST00000314888.9	-	31	4436	c.4083G>A	c.(4081-4083)aaG>aaA	p.K1361K	TLN1_ENST00000540444.1_Silent_p.K1361K	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1361	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TATCACACTCCTTCTGGCCGG	0.532																																																0													107	94	98					9																	35711016		2203	4300	6503	SO:0001819	synonymous_variant	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4083G>A	chr9.hg19:g.35711016C>T			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	hg19	CCDS35009.1																																																																																				0.532	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		T	35711016	C	T	35711016	2	4	296	1	0	0	0	0	0	0	0	1	15952	680	24	2		2	TLN1	9	35711016	Silent	SNP	C	TCGA-B9-4117-01A-01D-1252-08		35711016	105502415	22	17569											
ZCCHC6	79670	hgsc.bcm.edu	37	9	88940291	88940291	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr9:88940291G>C	ENST00000375963.3	-	12	1919	c.1747C>G	c.(1747-1749)Cgg>Ggg	p.R583G	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R583G|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R460G|ZCCHC6_ENST00000469004.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	583	PAP-associated 1.				RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTCAATTCCCGAGATACCAAT	0.403																																																0													101	98	99					9																	88940291		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1747C>G	chr9.hg19:g.88940291G>C	ENSP00000365130:p.Arg583Gly		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	hg19	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583577	0.65992	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.78707	-1.2;-1.2;-1.2	5.1	5.1	0.69264	PAP/25A-associated (1);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	M	0.76838	2.35	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88322	0.2963	10	0.72032	D	0.01	-11.8038	13.6554	0.62336	0.0:0.0:0.8455:0.1544	.	460;583	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	G	460;583;583	ENSP00000365127:R460G;ENSP00000365128:R583G;ENSP00000365130:R583G	ENSP00000365127:R460G	R	-	1	2	ZCCHC6	88130111	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.937000	0.56575	2.658000	0.90341	0.650000	0.86243	CGG		0.403	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		C	88940291	G	C	88940291	3	2	296	1	0	0	0	0	1	0	0	0	17597	1057	37	4	2804	4	ZCCHC6	9	88940291	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	53229275	88940291	52273140	23	17570											
ANK3	288	hgsc.bcm.edu	37	10	61819138	61819138	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr10:61819138G>C	ENST00000280772.2	-	41	12837	c.12646C>G	c.(12646-12648)Cga>Gga	p.R4216G	RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000355288.2_Missense_Mutation_p.R840G|ANK3_ENST00000503366.1_Missense_Mutation_p.R1707G|ANK3_ENST00000373827.2_Missense_Mutation_p.R1700G	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4216					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTACTCTTCGAGCTTGAGCG	0.408																																																0													201	175	184					10																	61819138		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12646C>G	chr10.hg19:g.61819138G>C	ENSP00000280772:p.Arg4216Gly		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315261	0.40996	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T	0.79352	-0.67;-1.26;0.38;-0.38;-1.22	5.56	4.65	0.58169	.	0.000000	0.30329	U	0.009875	T	0.73783	0.3631	L	0.29908	0.895	0.80722	D	1	P;P;P;P;B;P;D	0.58268	0.889;0.543;0.889;0.945;0.447;0.543;0.982	B;B;B;P;B;B;P	0.49752	0.301;0.162;0.394;0.597;0.307;0.162;0.621	T	0.77464	-0.2578	10	0.72032	D	0.01	.	13.835	0.63404	0.0733:0.0:0.9267:0.0	.	1707;840;1700;4216;941;840;239	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	G	4216;1700;298;840;1707;1686;941	ENSP00000280772:R4216G;ENSP00000362933:R1700G;ENSP00000362926:R298G;ENSP00000347436:R840G;ENSP00000425236:R1707G	ENSP00000280772:R4216G	R	-	1	2	ANK3	61489144	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.006000	0.76329	2.623000	0.88846	0.455000	0.32223	CGA		0.408	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61819138	G	C	61819138	3	2	296	1	0	0	0	0	1	0	0	0	622	1066	37	4	499	4	ANK3	10	61819138	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08		61819138	73715609	24	17571											
SEC31B	25956	hgsc.bcm.edu	37	10	102255181	102255181	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr10:102255181C>G	ENST00000370345.3	-	19	2530	c.2433G>C	c.(2431-2433)gaG>gaC	p.E811D	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	811					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AAGATGATGTCTCTTTAGAGT	0.488																																																0													69	61	63					10																	102255181		2203	4300	6503	SO:0001583	missense	25956			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2433G>C	chr10.hg19:g.102255181C>G	ENSP00000359370:p.Glu811Asp		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	hg19	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927568	0.34002	.	.	ENSG00000075826	ENST00000370345	T	0.51325	0.71	5.76	-1.7	0.08159	.	0.960732	0.08733	N	0.901781	T	0.18676	0.0448	N	0.08118	0	0.09310	N	0.999998	B;B	0.32893	0.017;0.389	B;B	0.25987	0.006;0.065	T	0.13308	-1.0514	10	0.33141	T	0.24	-8.994	0.6819	0.00876	0.1758:0.2806:0.2804:0.2633	.	810;811	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	D	811	ENSP00000359370:E811D	ENSP00000359370:E811D	E	-	3	2	SEC31B	102245171	.	.	0.335000	0.25508	0.480000	0.33159	.	.	-0.009000	0.14296	0.561000	0.74099	GAG		0.488	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		G	102255181	C	G	102255181	3	3	296	1	0	0	0	0	1	0	0	0	14005	912	32	4	1138	4	SEC31B	10	102255181	Missense_Mutation	SNP	C	TCGA-B9-4117-01A-01D-1252-08	40436043	102255181	33279566	25	17572											
DCLRE1A	9937	hgsc.bcm.edu	37	10	115608965	115608965	+	Silent	SNP	A	A	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr10:115608965A>G	ENST00000361384.2	-	2	2816	c.1899T>C	c.(1897-1899)cgT>cgC	p.R633R	DCLRE1A_ENST00000369305.1_Silent_p.R633R	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	633					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TCTTTTTTTGACGCTGTGACC	0.368								Other identified genes with known or suspected DNA repair function																																								0													162	164	163					10																	115608965		2203	4300	6503	SO:0001819	synonymous_variant	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1899T>C	chr10.hg19:g.115608965A>G			D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	ENST00000361384.2	hg19	CCDS7584.1																																																																																				0.368	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		G	115608965	A	G	115608965	2	3	296	1	0	0	0	0	0	0	0	1	4296	262	10	3		3	DCLRE1A	10	115608965	Silent	SNP	A	TCGA-B9-4117-01A-01D-1252-08	13353784	115608965	19925782	26	17573											
SLC43A3	29015	hgsc.bcm.edu	37	11	57188512	57188512	+	Missense_Mutation	SNP	C	C	T	rs148055054		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:57188512C>T	ENST00000395123.2	-	7	768	c.464G>A	c.(463-465)cGt>cAt	p.R155H	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Missense_Mutation_p.R155H|SLC43A3_ENST00000533524.1_Missense_Mutation_p.R168H|SLC43A3_ENST00000529554.1_Missense_Mutation_p.R155H|SLC43A3_ENST00000352187.1_Missense_Mutation_p.R155H	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	155					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GATGGTCGAACGGTGTTGGCC	0.448																																																0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	156	128	138		464,464,464	5.8	1	11	dbSNP_134	138	0,8592		0,0,4296	no	missense,missense,missense	SLC43A3	NM_014096.2,NM_017611.2,NM_199329.1	29,29,29	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	155/492,155/492,155/492	57188512	1,12993	2201	4296	6497	SO:0001583	missense	29015			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.464G>A	chr11.hg19:g.57188512C>T	ENSP00000378555:p.Arg155His		B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	hg19	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465074	0.96257	2.27E-4	0.0	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005;ENST00000529113;ENST00000525474	T;T;T;T;T;T;D;D	0.84146	-0.35;-0.35;-0.35;-0.35;-0.35;-0.46;-1.81;-1.81	5.85	5.85	0.93711	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	M	0.87180	2.865	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.997;0.998	D	0.93715	0.7027	10	0.62326	D	0.03	-17.6544	17.9537	0.89062	0.0:1.0:0.0:0.0	.	155;168;155;155	B4DV87;E7EQD2;Q8NBI5;A8K2X6	.;.;S43A3_HUMAN;.	H	155;155;155;155;168;155;102;155	ENSP00000378555:R155H;ENSP00000378556:R155H;ENSP00000337561:R155H;ENSP00000436254:R155H;ENSP00000434515:R168H;ENSP00000435893:R155H;ENSP00000434293:R102H;ENSP00000436055:R155H	ENSP00000337561:R155H	R	-	2	0	SLC43A3	56945088	1.000000	0.71417	0.993000	0.49108	0.945000	0.59286	6.437000	0.73421	2.782000	0.95742	0.655000	0.94253	CGT		0.448	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		T	57188512	C	T	57188512	3	4	296	1	0	0	0	0	1	0	0	0	14640	536	19	1	1043	1	SLC43A3	11	57188512	Missense_Mutation	SNP	C	TCGA-B9-4117-01A-01D-1252-08		57188512	77818004	27	17574											
TMPRSS13	84000	hgsc.bcm.edu	37	11	117789447	117789447	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:117789447T>C	ENST00000430170.2	-	2	215	c.128A>G	c.(127-129)cAg>cGg	p.Q43R	TMPRSS13_ENST00000528626.1_Missense_Mutation_p.Q43R|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.Q43R|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.Q43R|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.Q43R	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	43	13 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGGAGATGCCTGGGCTGGAGA	0.662																																																0													42	49	47					11																	117789447		1901	4116	6017	SO:0001583	missense	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.128A>G	chr11.hg19:g.117789447T>C	ENSP00000387702:p.Gln43Arg		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	hg19	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	T	4.646	0.120139	0.08881	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.87650	-2.28;-2.24;-2.25;-2.24;-2.14	2.41	-1.65	0.08291	.	.	.	.	.	T	0.73466	0.3590	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.57906	-0.7730	9	0.33141	T	0.24	.	5.582	0.17254	0.0:0.5323:0.0:0.4677	.	43;43	Q9BYE2-4;E9PRA0	.;.	R	43	ENSP00000435813:Q43R;ENSP00000434279:Q43R;ENSP00000387702:Q43R;ENSP00000394114:Q43R;ENSP00000436502:Q43R	ENSP00000337113:Q43R	Q	-	2	0	TMPRSS13	117294657	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.101000	0.00604	-0.033000	0.13736	-0.271000	0.10264	CAG		0.662	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		C	117789447	T	C	117789447	3	2	296	1	0	0	0	0	1	0	0	0	16250	1580	55	3	1623	3	TMPRSS13	11	117789447	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08	60600935	117789447	17217069	28	17575											
ST3GAL4	6484	hgsc.bcm.edu	37	11	126276866	126276866	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:126276866G>C	ENST00000526727.1	+	3	504	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.E44Q|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.E43Q|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.E44Q|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.E40Q|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.E44Q|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.E40Q|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.E33Q|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.E44Q|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.E39Q			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	44					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		AGAGAAGAAGGAGCCGTGCCT	0.547																																																0													85	86	86					11																	126276866		2201	4298	6499	SO:0001583	missense	6484			X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.130G>C	chr11.hg19:g.126276866G>C	ENSP00000436047:p.Glu44Gln		A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	hg19	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349790	0.41599	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000526311;ENST00000528858;ENST00000534452;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.97;0.94;0.94;0.94;0.94;0.94;0.95;0.94;0.94	5.4	3.42	0.39159	.	0.741690	0.13270	N	0.400600	T	0.28234	0.0697	L	0.50333	1.59	0.09310	N	1	P;P;P	0.49559	0.925;0.454;0.454	B;B;B	0.37346	0.247;0.105;0.105	T	0.09530	-1.0670	10	0.13470	T	0.59	.	6.0778	0.19925	0.1787:0.1907:0.6306:0.0	.	25;40;44	Q9HAA9;Q6IBE6;Q11206	.;.;SIA4C_HUMAN	Q	40;44;44;40;44;44;44;44;44;44;33;43;39	ENSP00000227495:E40Q;ENSP00000394354:E44Q;ENSP00000348451:E44Q;ENSP00000433989:E40Q;ENSP00000433318:E44Q;ENSP00000432424:E44Q;ENSP00000376437:E44Q;ENSP00000436047:E44Q;ENSP00000399444:E33Q;ENSP00000434349:E43Q;ENSP00000434668:E39Q	ENSP00000227495:E40Q	E	+	1	0	ST3GAL4	125782076	0.018000	0.18449	0.992000	0.48379	0.963000	0.63663	1.290000	0.33319	2.527000	0.85204	0.561000	0.74099	GAG		0.547	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		C	126276866	G	C	126276866	3	2	296	1	0	0	0	0	1	0	0	0	15222	1175	41	4	128	4	ST3GAL4	11	126276866	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	8487419	126276866	8729650	29	17576											
MYBPC1	4604	hgsc.bcm.edu	37	12	102038482	102038482	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:102038482A>T	ENST00000550270.1	+	10	798	c.798A>T	c.(796-798)aaA>aaT	p.K266N	MYBPC1_ENST00000551300.1_Missense_Mutation_p.K167N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.K291N|MYBPC1_ENST00000550501.1_Intron|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000553190.1_Missense_Mutation_p.K266N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.K253N|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.K252N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.K266N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.K266N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.K266N|MYBPC1_ENST00000549145.1_Missense_Mutation_p.K279N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.K266N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.K291N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.K247N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.K240N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.K254N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	266	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGGTTGACAAAGGAGGCAGAG	0.368																																																0													86	82	83					12																	102038482		2203	4300	6503	SO:0001583	missense	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.798A>T	chr12.hg19:g.102038482A>T	ENSP00000449702:p.Lys266Asn		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	hg19	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395297	0.83011	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.8	5.8	0.92144	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000037	T	0.69806	0.3152	M	0.87328	2.875	0.80722	D	1	P;D;D;D;D;P;D;D;P;D;D	0.89917	0.623;1.0;0.999;1.0;0.999;0.623;0.999;1.0;0.863;0.999;0.999	P;D;D;D;D;P;D;D;P;D;D	0.91635	0.499;0.999;0.993;0.999;0.998;0.627;0.998;0.999;0.614;0.998;0.999	T	0.75926	-0.3145	10	0.87932	D	0	.	15.8202	0.78633	1.0:0.0:0.0:0.0	.	247;254;266;266;253;240;266;266;291;291;279	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	N	240;266;266;266;253;252;291;279;266;291;266;247;254;291;167;266	ENSP00000448175:K240N;ENSP00000400908:K266N;ENSP00000388989:K266N;ENSP00000353822:K266N;ENSP00000376665:K253N;ENSP00000447362:K252N;ENSP00000354845:K291N;ENSP00000447660:K279N;ENSP00000447900:K266N;ENSP00000440034:K266N;ENSP00000446128:K247N;ENSP00000442847:K254N;ENSP00000354849:K291N;ENSP00000447116:K167N;ENSP00000449702:K266N	ENSP00000353822:K266N	K	+	3	2	MYBPC1	100562613	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.038000	0.64177	2.212000	0.71576	0.533000	0.62120	AAA		0.368	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			T	102038482	A	T	102038482	3	4	296	1	0	0	0	0	1	0	0	0	10013	69	3	5	919	5	MYBPC1	12	102038482	Missense_Mutation	SNP	A	TCGA-B9-4117-01A-01D-1252-08		102038482	31813413	30	17577											
ACAD10	80724	hgsc.bcm.edu	37	12	112174685	112174685	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:112174685T>A	ENST00000313698.4	+	12	1746	c.1591T>A	c.(1591-1593)Tat>Aat	p.Y531N	ACAD10_ENST00000455480.2_Missense_Mutation_p.Y562N|ACAD10_ENST00000549590.1_Missense_Mutation_p.Y531N|ACAD10_ENST00000392636.2_Missense_Mutation_p.Y133N|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	531						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGCAGAGGAGTATTTCAGGAT	0.502																																																0													124	112	116					12																	112174685		2203	4300	6503	SO:0001583	missense	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1591T>A	chr12.hg19:g.112174685T>A	ENSP00000325137:p.Tyr531Asn		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	hg19	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801553	0.70682	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.29	4.14	0.48551	Protein kinase-like domain (1);	0.289517	0.34133	N	0.004238	T	0.61887	0.2383	M	0.92880	3.355	0.37403	D	0.912927	D;D;D	0.89917	0.997;0.999;1.0	P;D;D	0.91635	0.879;0.957;0.999	T	0.72020	-0.4416	10	0.66056	D	0.02	.	10.4594	0.44570	0.0:0.0776:0.0:0.9224	.	562;531;531	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	N	133;531;531;562;531	ENSP00000376411:Y133N;ENSP00000446959:Y531N;ENSP00000389813:Y562N;ENSP00000325137:Y531N	ENSP00000325137:Y531N	Y	+	1	0	ACAD10	110659068	0.972000	0.33761	0.981000	0.43875	0.974000	0.67602	1.626000	0.37039	0.863000	0.35553	0.459000	0.35465	TAT		0.502	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		A	112174685	T	A	112174685	3	1	296	1	0	0	0	0	1	0	0	0	108	1638	57	5	1730	5	ACAD10	12	112174685	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08	10136203	112174685	21677210	31	17578											
EP400	57634	hgsc.bcm.edu	37	12	132551479	132551479	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:132551479T>A	ENST00000333577.4	+	50	8931	c.8822T>A	c.(8821-8823)aTc>aAc	p.I2941N	EP400_ENST00000330386.6_Missense_Mutation_p.I2824N|EP400_ENST00000332482.4_Missense_Mutation_p.I2868N|EP400_ENST00000389562.2_Missense_Mutation_p.I2904N|EP400_ENST00000389561.2_Missense_Mutation_p.I2905N			Q96L91	EP400_HUMAN	E1A binding protein p400	2941					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTCGCGGGGATCAGCGTGGCG	0.687																																																0													29	29	29					12																	132551479		2203	4299	6502	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8822T>A	chr12.hg19:g.132551479T>A	ENSP00000333602:p.Ile2941Asn		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	hg19		.	.	.	.	.	.	.	.	.	.	T	18.43	3.621758	0.66787	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.92545	-3.06;-3.05;-2.99;-3.01;-3.02	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.93112	0.7807	L	0.34521	1.04	0.44899	D	0.997913	D;D;D;D	0.89917	0.992;1.0;1.0;1.0	D;D;D;D	0.87578	0.976;0.998;0.998;0.998	D	0.92827	0.6277	10	0.40728	T	0.16	.	14.4084	0.67099	0.0:0.0:0.0:1.0	.	2941;2905;2824;2904	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	N	2941;2905;2904;2868;2824;2905	ENSP00000333602:I2941N;ENSP00000374212:I2905N;ENSP00000374213:I2904N;ENSP00000331737:I2868N;ENSP00000330620:I2824N	ENSP00000330620:I2824N	I	+	2	0	EP400	131117432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.817000	0.53016	0.454000	0.30748	ATC		0.687	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132551479	T	A	132551479	3	1	296	1	0	0	0	0	1	0	0	0	5151	1435	50	5	8901	5	EP400	12	132551479	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08	20376794	132551479	1300416	32	17579											
IFT88	8100	hgsc.bcm.edu	37	13	21189985	21189985	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr13:21189985T>G	ENST00000319980.6	+	16	1520	c.1193T>G	c.(1192-1194)gTa>gGa	p.V398G	IFT88_ENST00000382778.4_Missense_Mutation_p.V398G|IFT88_ENST00000351808.5_Missense_Mutation_p.V389G|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000537103.1_Missense_Mutation_p.V370G	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	398					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		ATTGCTCCTGTAATTGAAACA	0.279																																																0													81	91	87					13																	21189985		2203	4295	6498	SO:0001583	missense	8100			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1193T>G	chr13.hg19:g.21189985T>G	ENSP00000323580:p.Val398Gly		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	hg19	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863350	0.71949	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.35789	1.31;1.29;1.29;1.31	5.59	3.19	0.36642	.	0.122813	0.56097	D	0.000035	T	0.34978	0.0916	M	0.74647	2.275	0.80722	D	1	B;P;P;B	0.37985	0.433;0.594;0.613;0.104	B;B;B;B	0.36845	0.234;0.164;0.197;0.058	T	0.22765	-1.0207	10	0.66056	D	0.02	-16.2168	6.1242	0.20170	0.0:0.3259:0.0:0.6741	.	370;398;196;398	F5H6C2;E7EW86;Q6MZX0;Q13099	.;.;.;IFT88_HUMAN	G	398;261;389;398;370	ENSP00000372228:V398G;ENSP00000261632:V389G;ENSP00000323580:V398G;ENSP00000437719:V370G	ENSP00000323580:V398G	V	+	2	0	IFT88	20087985	0.997000	0.39634	0.988000	0.46212	0.997000	0.91878	2.622000	0.46427	0.942000	0.37525	0.528000	0.53228	GTA		0.279	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		G	21189985	T	G	21189985	3	3	296	1	0	0	0	0	1	0	0	0	7568	1638	57	5	1247	5	IFT88	13	21189985	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08		21189985	93979893	33	17580	137	2									
IFT88	8100	hgsc.bcm.edu	37	13	21189988	21189988	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr13:21189988T>A	ENST00000319980.6	+	16	1523	c.1196T>A	c.(1195-1197)aTt>aAt	p.I399N	IFT88_ENST00000382778.4_Missense_Mutation_p.I399N|IFT88_ENST00000351808.5_Missense_Mutation_p.I390N|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000537103.1_Missense_Mutation_p.I371N	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	399					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GCTCCTGTAATTGAAACATCT	0.279																																																0													81	90	87					13																	21189988		2203	4293	6496	SO:0001583	missense	8100			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1196T>A	chr13.hg19:g.21189988T>A	ENSP00000323580:p.Ile399Asn		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	hg19	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408083	0.83340	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.40756	1.03;1.02;1.02;1.04	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.69717	0.3142	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.79784	0.986;0.979;0.993;0.991	T	0.76564	-0.2913	10	0.87932	D	0	-20.545	14.7446	0.69480	0.0:0.0:0.0:1.0	.	371;399;197;399	F5H6C2;E7EW86;Q6MZX0;Q13099	.;.;.;IFT88_HUMAN	N	399;262;390;399;371	ENSP00000372228:I399N;ENSP00000261632:I390N;ENSP00000323580:I399N;ENSP00000437719:I371N	ENSP00000323580:I399N	I	+	2	0	IFT88	20087988	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.260000	0.78391	2.121000	0.65114	0.528000	0.53228	ATT		0.279	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		A	21189988	T	A	21189988	3	1	296	1	0	0	0	0	1	0	0	0	7568	1493	52	5	1250	5	IFT88	13	21189988	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08	3	21189988	93979890	34	17581	137	2									
CLMN	79789	hgsc.bcm.edu	37	14	95669398	95669398	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr14:95669398T>C	ENST00000298912.4	-	9	2401	c.2288A>G	c.(2287-2289)tAt>tGt	p.Y763C		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	763					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GTCTGGCATATAGCCCTCTGG	0.567																																																0													38	39	39					14																	95669398		2203	4300	6503	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2288A>G	chr14.hg19:g.95669398T>C	ENSP00000298912:p.Tyr763Cys		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	hg19	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	T	9.014	0.983104	0.18889	.	.	ENSG00000165959	ENST00000298912	D	0.92647	-3.08	5.22	-4.75	0.03239	.	0.879712	0.09454	N	0.800049	D	0.83718	0.5315	L	0.39397	1.21	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.68055	-0.5510	10	0.40728	T	0.16	.	3.381	0.07255	0.1129:0.3809:0.1154:0.3907	.	763	Q96JQ2	CLMN_HUMAN	C	763	ENSP00000298912:Y763C	ENSP00000298912:Y763C	Y	-	2	0	CLMN	94739151	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.163000	0.03138	-0.982000	0.03515	-1.236000	0.01555	TAT		0.567	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			C	95669398	T	C	95669398	3	2	296	1	0	0	0	0	1	0	0	0	3544	1406	49	3	740	3	CLMN	14	95669398	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08		95669398	11680142	35	17582											
FBXO22	26263	hgsc.bcm.edu	37	15	76196905	76196905	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr15:76196905G>A	ENST00000308275.3	+	2	319	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	FBXO22_ENST00000565131.1_3'UTR|FBXO22_ENST00000453211.2_Missense_Mutation_p.G72S|FBXO22_ENST00000540507.1_Intron	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	72					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATCTCCGCAGGCCTGGCGGA	0.602																																																0													108	101	103					15																	76196905		2197	4294	6491	SO:0001583	missense	26263			AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.214G>A	chr15.hg19:g.76196905G>A	ENSP00000307833:p.Gly72Ser		Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	hg19	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	6.702	0.498156	0.12762	.	.	ENSG00000167196	ENST00000308275;ENST00000453211	.	.	.	3.51	0.501	0.16925	.	0.746536	0.11012	N	0.609403	T	0.13841	0.0335	N	0.03608	-0.345	0.09310	N	0.999993	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.33599	-0.9862	9	0.12103	T	0.63	-1.7367	7.3984	0.26950	0.0987:0.332:0.5694:0.0	.	72;72	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	S	72	.	ENSP00000307833:G72S	G	+	1	0	FBXO22	73983960	0.001000	0.12720	0.002000	0.10522	0.591000	0.36615	0.233000	0.17911	0.106000	0.17784	0.563000	0.77884	GGC		0.602	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		A	76196905	G	A	76196905	3	1	296	1	0	0	0	0	1	0	0	0	5736	1000	35	2	220	2	FBXO22	15	76196905	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08		76196905	26334487	36	17583											
CREBBP	1387	hgsc.bcm.edu	37	16	3808859	3808859	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:3808859A>G	ENST00000262367.5	-	17	4174	c.3365T>C	c.(3364-3366)aTt>aCt	p.I1122T	CREBBP_ENST00000382070.3_Missense_Mutation_p.I1084T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1122	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTACTGGAATTCCGAGGAG	0.438			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													69	68	68					16																	3808859		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3365T>C	chr16.hg19:g.3808859A>G	ENSP00000262367:p.Ile1122Thr		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568041	0.45798	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.19532	2.14;2.14	5.05	5.05	0.67936	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.54303	0.1850	M	0.89534	3.04	0.80722	D	1	D;D	0.59767	0.986;0.986	D;D	0.97110	1.0;1.0	T	0.64952	-0.6286	10	0.72032	D	0.01	-13.4551	15.0885	0.72174	1.0:0.0:0.0:0.0	.	1152;1122	Q4LE28;Q92793	.;CBP_HUMAN	T	1122;1152;1084	ENSP00000262367:I1122T;ENSP00000371502:I1084T	ENSP00000262367:I1122T	I	-	2	0	CREBBP	3748860	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.067000	0.93955	2.022000	0.59522	0.459000	0.35465	ATT		0.438	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		G	3808859	A	G	3808859	3	3	296	1	0	0	0	0	1	0	0	0	3863	101	4	3	4023	3	CREBBP	16	3808859	Missense_Mutation	SNP	A	TCGA-B9-4117-01A-01D-1252-08		3808859	86545894	37	17584											
HERPUD1	9709	hgsc.bcm.edu	37	16	56970652	56970652	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:56970652G>T	ENST00000439977.2	+	4	551	c.354G>T	c.(352-354)gaG>gaT	p.E118D	HERPUD1_ENST00000379792.2_Missense_Mutation_p.E93D|HERPUD1_ENST00000344114.4_Missense_Mutation_p.E117D|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.E117D	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	118					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AGTATCCTGAGGATTCCTCAA	0.443			T	ERG	prostate																																		Dom	yes		16	16q12.2-q13	9709	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"		E	0													142	131	135					16																	56970652		2198	4300	6498	SO:0001583	missense	9709			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.354G>T	chr16.hg19:g.56970652G>T	ENSP00000409555:p.Glu118Asp		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	hg19	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631353	0.28978	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T	0.44881	1.51;0.91	6.16	3.15	0.36227	.	0.708796	0.14867	N	0.293775	T	0.20577	0.0495	N	0.08118	0	0.26730	N	0.970611	B;B;B;B;B;B	0.20988	0.017;0.008;0.033;0.0;0.05;0.029	B;B;B;B;B;B	0.19666	0.008;0.026;0.022;0.0;0.019;0.009	T	0.21552	-1.0242	10	0.14656	T	0.56	-20.3489	8.8344	0.35104	0.2378:0.0:0.7622:0.0	.	118;117;118;93;117;118	B4E3N8;Q15011-3;A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;.;.;HERP1_HUMAN	D	117;93;118;117	ENSP00000369118:E93D;ENSP00000340931:E117D	ENSP00000300302:E118D	E	+	3	2	HERPUD1	55528153	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	0.509000	0.22707	0.939000	0.37446	0.650000	0.86243	GAG		0.443	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			T	56970652	G	T	56970652	3	4	296	1	0	0	0	0	1	0	0	0	7065	991	35	4	368	4	HERPUD1	16	56970652	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	53161793	56970652	33384101	38	17585											
ZFHX3	463	hgsc.bcm.edu	37	16	72984698	72984698	+	Silent	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:72984698G>A	ENST00000268489.5	-	3	3558	c.2886C>T	c.(2884-2886)ggC>ggT	p.G962G	ZFHX3_ENST00000397992.5_Silent_p.G48G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	962					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCATGTGCAGGCCCAGCATGT	0.607																																																0													106	90	96					16																	72984698		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2886C>T	chr16.hg19:g.72984698G>A			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	hg19	CCDS10908.1																																																																																				0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72984698	G	A	72984698	2	1	296	1	0	0	0	0	0	0	0	1	17639	1190	42	2		2	ZFHX3	16	72984698	Silent	SNP	G	TCGA-B9-4117-01A-01D-1252-08	16014046	72984698	17370055	39	17586											
USP6	9098	hgsc.bcm.edu	37	17	5042939	5042939	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:5042939A>C	ENST00000574788.1	+	22	3698	c.1468A>C	c.(1468-1470)Acc>Ccc	p.T490P	USP6_ENST00000332776.4_Missense_Mutation_p.T490P|USP6_ENST00000304328.5_Missense_Mutation_p.T173P|USP6_ENST00000250066.6_Missense_Mutation_p.T490P			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	490					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCAGCTGGCCACCTGCTGGCA	0.607			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													44	48	47					17																	5042939		2203	4300	6503	SO:0001583	missense	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1468A>C	chr17.hg19:g.5042939A>C	ENSP00000460380:p.Thr490Pro		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	hg19	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.512750	0.00975	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.13901	2.55;3.03;2.73	0.0465	0.0465	0.14256	.	0.094876	0.64402	D	0.000001	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	P;P	0.47106	0.89;0.797	P;B	0.52554	0.702;0.321	T	0.20773	-1.0265	9	0.38643	T	0.18	.	.	.	.	.	173;490	P35125-2;P35125	.;UBP6_HUMAN	P	490;490;173	ENSP00000328010:T490P;ENSP00000250066:T490P;ENSP00000305473:T173P	ENSP00000250066:T490P	T	+	1	0	USP6	4983663	0.933000	0.31639	0.264000	0.24511	0.260000	0.26232	-0.165000	0.09968	0.115000	0.18071	0.113000	0.15668	ACC		0.607	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		C	5042939	A	C	5042939	3	2	296	1	0	0	0	0	1	0	0	0	17091	159	6	5	1518	5	USP6	17	5042939	Missense_Mutation	SNP	A	TCGA-B9-4117-01A-01D-1252-08		5042939	76152271	40	17587											
PER1	5187	hgsc.bcm.edu	37	17	8047043	8047043	+	Silent	SNP	T	T	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:8047043T>G	ENST00000317276.4	-	19	2850	c.2613A>C	c.(2611-2613)ccA>ccC	p.P871P	PER1_ENST00000581082.1_Silent_p.P848P|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	871	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TAGTGGCTGGTGGGGTGGGCC	0.672			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													9	11	10					17																	8047043		2183	4270	6453	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2613A>C	chr17.hg19:g.8047043T>G			B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	hg19	CCDS11131.1																																																																																				0.672	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			G	8047043	T	G	8047043	2	3	296	1	0	0	0	0	0	0	0	1	11731	1683	59	5		5	PER1	17	8047043	Silent	SNP	T	TCGA-B9-4117-01A-01D-1252-08	3004104	8047043	73148167	41	17588											
TMEM132E	124842	hgsc.bcm.edu	37	17	32964849	32964850	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:32964849_32964850insC	ENST00000321639.5	+	10	2881_2882	c.2553_2554insC	c.(2554-2556)cagfs	p.Q852fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	852						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGGCAACGGGCAGCCGCTGCG	0.673																																																0																																										SO:0001589	frameshift_variant	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2554dupC	chr17.hg19:g.32964850_32964850dupC	ENSP00000316532:p.Gln852fs		Q8WUF4|Q8WVA5	Frame_Shift_Ins	INS	ENST00000321639.5	hg19	CCDS11283.1																																																																																				0.673	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		C	32964850	-	C	32964849	7	5	296	1	0	1	1	0	0	0	0	0	16053	1190	42	0	2591	0	TMEM132E	17	32964849	Frame_Shift_Ins	INS	-	TCGA-B9-4117-01A-01D-1252-08	24917806	32964849	48230361	42	17589											
KRTAP4-2	85291	hgsc.bcm.edu	37	17	39334233	39334233	+	Missense_Mutation	SNP	T	T	G	rs560495299	byFrequency	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:39334233T>G	ENST00000377726.2	-	1	227	c.184A>C	c.(184-186)Agc>Cgc	p.S62R		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	62	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCTGCAGCAGGTG	0.657													T|||	17	0.00339457	0.0023	0.0014	5008	,	,		17958	0.0099		0.0	False		,,,				2504	0.0031															0													40	46	44					17																	39334233		2201	4298	6499	SO:0001583	missense	85291			AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"Keratin associated proteins"	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.184A>C	chr17.hg19:g.39334233T>G	ENSP00000366955:p.Ser62Arg		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	hg19	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	0.738	-0.777466	0.02929	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.00603	6.28	4.67	-1.59	0.08453	.	1.674050	0.04249	N	0.338307	T	0.00178	0.0005	N	0.00011	-3.005	0.09310	N	1	B	0.16802	0.019	B	0.20955	0.032	T	0.51608	-0.8684	10	0.12766	T	0.61	.	14.1242	0.65210	0.0:0.0:0.3626:0.6374	.	62	Q9BYR5	KRA42_HUMAN	R	62;179	ENSP00000366955:S62R	ENSP00000366955:S62R	S	-	1	0	KRTAP4-2	36587759	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	-2.321000	0.01119	-0.438000	0.07232	-1.986000	0.00452	AGC		0.657	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			G	39334233	T	G	39334233	3	3	296	1	0	0	0	0	1	0	0	0	8553	1580	55	5	230	5	KRTAP4-2	17	39334233	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08	6369384	39334233	41860977	43	17590											
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340878	39340878	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:39340878T>G	ENST00000398472.1	-	1	716	c.229A>C	c.(229-231)Agc>Cgc	p.S77R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	77	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACACCACAGCTGGGGCGGCAG	0.642																																																0													21	25	24					17																	39340878		2070	4197	6267	SO:0001583	missense	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"Keratin associated proteins"	18907	protein-coding gene	gene with protein product			"keratin associated protein 4-10"	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.229A>C	chr17.hg19:g.39340878T>G	ENSP00000381489:p.Ser77Arg		A8MWS7|Q3SYF2	Missense_Mutation	SNP	ENST00000398472.1	hg19		.	.	.	.	.	.	.	.	.	.	T	13.90	2.375762	0.42105	.	.	ENSG00000244537;ENSG00000198443;ENSG00000198443	ENST00000458321;ENST00000398472;ENST00000334190	T	0.00737	5.76	5.02	2.28	0.28536	.	.	.	.	.	T	0.00637	0.0021	.	.	.	0.25986	N	0.98232	B	0.21905	0.062	B	0.15870	0.014	T	0.49322	-0.8952	8	0.59425	D	0.04	.	1.9461	0.03357	0.2357:0.2353:0.0:0.5289	.	77	Q9BYQ7	KRA41_HUMAN	R	73;77;77	ENSP00000381489:S77R	ENSP00000335483:S77R	S	-	1	0	KRTAP4-2;KRTAP4-1	36594404	0.742000	0.28228	1.000000	0.80357	0.970000	0.65996	0.669000	0.25142	1.854000	0.53819	0.482000	0.46254	AGC		0.642	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		G	39340878	T	G	39340878	3	3	296	1	0	0	0	0	1	0	0	0	8550	1580	55	5	162	5	KRTAP4-1	17	39340878	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08	6645	39340878	41854332	44	17591											
GHDC	84514	hgsc.bcm.edu	37	17	40344945	40344945	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:40344945G>T	ENST00000301671.8	-	3	807	c.366C>A	c.(364-366)gaC>gaA	p.D122E	GHDC_ENST00000436923.2_Missense_Mutation_p.D122E|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000587427.1_Missense_Mutation_p.D122E|GHDC_ENST00000414034.3_Missense_Mutation_p.D122E|GHDC_ENST00000593209.1_Missense_Mutation_p.D122E|GHDC_ENST00000590520.1_5'Flank			Q8N2G8	GHDC_HUMAN	GH3 domain containing	122						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCTCCCCAAGGTCCTGGTTTG	0.607																																																0													105	118	113					17																	40344945		2203	4300	6503	SO:0001583	missense	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.366C>A	chr17.hg19:g.40344945G>T	ENSP00000301671:p.Asp122Glu		B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	hg19	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	0.862	-0.734923	0.03111	.	.	ENSG00000167925	ENST00000393854;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.61	1.41	0.22369	.	1.247040	0.05644	N	0.583915	T	0.19886	0.0478	N	0.14661	0.345	0.09310	N	1	B;B	0.26400	0.148;0.009	B;B	0.24394	0.053;0.007	T	0.25082	-1.0142	9	0.18276	T	0.48	-0.018	4.8152	0.13363	0.1998:0.1781:0.6221:0.0	.	122;122	Q8N2G8-2;Q8N2G8	.;GHDC_HUMAN	E	66;122;122;122	.	ENSP00000301671:D122E	D	-	3	2	GHDC	37598471	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	0.158000	0.16422	0.544000	0.28883	0.561000	0.74099	GAC		0.607	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		T	40344945	G	T	40344945	3	4	296	1	0	0	0	0	1	0	0	0	6371	1252	44	4	1343	4	GHDC	17	40344945	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	1004067	40344945	40850265	45	17592											
ITGB4	3691	hgsc.bcm.edu	37	17	73732406	73732406	+	Missense_Mutation	SNP	G	G	C	rs201929789		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:73732406G>C	ENST00000200181.3	+	15	1986	c.1799G>C	c.(1798-1800)cGc>cCc	p.R600P	ITGB4_ENST00000579662.1_Missense_Mutation_p.R600P|ITGB4_ENST00000450894.3_Missense_Mutation_p.R600P|ITGB4_ENST00000339591.3_Missense_Mutation_p.R600P|ITGB4_ENST00000449880.2_Missense_Mutation_p.R600P|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	600	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGTGTGGCCGCTGCCACTGC	0.632																																																0													65	69	67					17																	73732406		2203	4300	6503	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1799G>C	chr17.hg19:g.73732406G>C	ENSP00000200181:p.Arg600Pro		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	hg19	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314176	0.40996	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.94862	-3.54;-3.54;-3.54	4.6	4.6	0.57074	.	0.067612	0.64402	D	0.000010	D	0.97222	0.9092	M	0.83774	2.66	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.916;0.961;0.993;0.985;0.985	D	0.98032	1.0377	10	0.72032	D	0.01	.	16.4661	0.84079	0.0:0.0:1.0:0.0	.	560;600;600;600;600	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	P	516;600;600;600	ENSP00000200181:R600P;ENSP00000344079:R600P;ENSP00000400217:R600P	ENSP00000200181:R600P	R	+	2	0	ITGB4	71244001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.642000	0.67888	2.095000	0.63458	0.558000	0.71614	CGC		0.632	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			C	73732406	G	C	73732406	3	2	296	1	0	0	0	0	1	0	0	0	7899	1087	38	4	1853	4	ITGB4	17	73732406	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	33387461	73732406	7462804	46	17593											
FAM108A1	81926	hgsc.bcm.edu	37	19	1881347	1881347	+	Silent	SNP	A	A	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:1881347A>G	ENST00000292577.7	-	2	652	c.219T>C	c.(217-219)cgT>cgC	p.R73R	ABHD17A_ENST00000250974.9_Silent_p.R73R|ABHD17A_ENST00000590661.1_Silent_p.R73R	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	73						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGAAGTCGGCACGCTCCGTCA	0.716																																																0													19	22	21					19																	1881347		2188	4262	6450	SO:0001819	synonymous_variant	81926			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.219T>C	chr19.hg19:g.1881347A>G			A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	hg19	CCDS45902.1																																																																																				0.716	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		G	1881347	A	G	1881347	2	3	296	1	0	0	0	0	0	0	0	1	5393	146	6	3		3	FAM108A1	19	1881347	Silent	SNP	A	TCGA-B9-4117-01A-01D-1252-08		1881347	57247636	47	17594											
PLEKHJ1	55111	hgsc.bcm.edu	37	19	2234038	2234038	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:2234038G>T	ENST00000589097.1	-	6	1456	c.343C>A	c.(343-345)Ctc>Atc	p.L115I	PLEKHJ1_ENST00000589791.1_5'UTR|PLEKHJ1_ENST00000587394.2_Missense_Mutation_p.L115I|PLEKHJ1_ENST00000586608.2_Missense_Mutation_p.L116I|PLEKHJ1_ENST00000591099.2_Silent_p.A84A|SF3A2_ENST00000221494.5_5'Flank|PLEKHJ1_ENST00000587962.2_Missense_Mutation_p.L115I|PLEKHJ1_ENST00000326631.2_Missense_Mutation_p.L115I|MIR1227_ENST00000408484.1_RNA			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	115										endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGAAGATGAGGCTTCTCCGC	0.642																																																0													119	107	111					19																	2234038		2203	4300	6503	SO:0001583	missense	55111			AK001159	CCDS12083.1, CCDS74251.1	19p13.3	2013-01-10				ENSG00000104886		"Pleckstrin homology (PH) domain containing"	18211	protein-coding gene	gene with protein product	"guanine nucleotide releasing protein x"					11602354	Standard	XM_006722784		Approved	FLJ10297	uc002lvf.1	Q9NW61		ENST00000589097.1:c.343C>A	chr19.hg19:g.2234038G>T	ENSP00000465391:p.Leu115Ile		B3KUQ9|D6W604	Missense_Mutation	SNP	ENST00000589097.1	hg19	CCDS12083.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836779	0.32421	.	.	ENSG00000104886	ENST00000326631	.	.	.	4.05	2.94	0.34122	.	0.176721	0.36591	N	0.002508	T	0.28234	0.0697	L	0.32530	0.975	0.42701	D	0.993613	P	0.42692	0.787	B	0.33121	0.158	T	0.06881	-1.0802	9	0.33940	T	0.23	-16.6324	7.7627	0.28961	0.0916:0.0:0.7474:0.161	.	115	Q9NW61	PKHJ1_HUMAN	I	115	.	ENSP00000318075:L115I	L	-	1	0	PLEKHJ1	2185038	1.000000	0.71417	0.983000	0.44433	0.410000	0.31052	5.117000	0.64667	1.788000	0.52465	0.561000	0.74099	CTC		0.642	PLEKHJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451255.1	NM_018049		T	2234038	G	T	2234038	3	4	296	1	0	0	0	0	1	0	0	0	12081	1000	35	4	114	4	PLEKHJ1	19	2234038	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	352691	2234038	56894945	48	17595											
KDM4B	23030	hgsc.bcm.edu	37	19	5131903	5131903	+	Silent	SNP	G	G	C	rs544835411		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:5131903G>C	ENST00000159111.4	+	13	2009	c.1791G>C	c.(1789-1791)ccG>ccC	p.P597P	KDM4B_ENST00000536461.1_Silent_p.P631P	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	597					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TTCAGGCACCGTCCACATTTT	0.652																																																0													36	39	38					19																	5131903		2201	4299	6500	SO:0001819	synonymous_variant	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1791G>C	chr19.hg19:g.5131903G>C			B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	hg19	CCDS12138.1																																																																																				0.652	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		C	5131903	G	C	5131903	2	2	296	1	0	0	0	0	0	0	0	1	8131	1132	40	4		4	KDM4B	19	5131903	Silent	SNP	G	TCGA-B9-4117-01A-01D-1252-08	2897865	5131903	53997080	49	17596											
MRI1	81576	hgsc.bcm.edu	37	19	13875777	13875777	+	IGR	SNP	C	C	T	rs558173579	byFrequency	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:13875777C>T	ENST00000586600.1	+	0	1922				MRI1_ENST00000319545.8_Silent_p.L75L|MRI1_ENST00000040663.6_Silent_p.L75L			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCGCCGCGCTCGTGGCCTTCG	0.756													C|||	13	0.00259585	0.0098	0.0	5008	,	,		6863	0.0		0.0	False		,,,				2504	0.0															0													4	5	4					19																	13875777		1806	3486	5292	SO:0001628	intergenic_variant	84245			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			chr19.hg19:g.13875777C>T			Q9BQ72	Silent	SNP	ENST00000586600.1	hg19	CCDS12296.1																																																																																				0.756	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		T	13875777	C	T	13875777	1	4	296	0	1	0	0	0	0	0	0	0	9772	871	31	1		1	MRI1	19	13875777	IGR	SNP	C	TCGA-B9-4117-01A-01D-1252-08	8743874	13875777	45253206	50	17597											
UBA2	10054	hgsc.bcm.edu	37	19	34921484	34921484	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:34921484G>C	ENST00000246548.4	+	2	212	c.142G>C	c.(142-144)Gat>Cat	p.D48H	UBA2_ENST00000439527.2_5'UTR|CTD-2588C8.8_ENST00000592220.1_RNA	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	48					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTGTAGATTGATCTGGATAC	0.358																																																0													185	170	175					19																	34921484		2203	4300	6503	SO:0001583	missense	10054			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.142G>C	chr19.hg19:g.34921484G>C	ENSP00000246548:p.Asp48His		B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	hg19	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624070	0.87560	.	.	ENSG00000126261	ENST00000246548	D	0.84442	-1.85	5.22	5.22	0.72569	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.100210	0.64402	D	0.000001	D	0.96565	0.8879	H	0.99937	4.99	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.98698	1.0699	10	0.87932	D	0	-19.2256	17.8923	0.88876	0.0:0.0:1.0:0.0	.	48	Q9UBT2	SAE2_HUMAN	H	48	ENSP00000246548:D48H	ENSP00000246548:D48H	D	+	1	0	UBA2	39613324	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.953000	0.93041	2.603000	0.88011	0.563000	0.77884	GAT		0.358	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		C	34921484	G	C	34921484	3	2	296	1	0	0	0	0	1	0	0	0	16833	1290	45	4	148	4	UBA2	19	34921484	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	21045707	34921484	24207499	51	17598											
RYR1	6261	hgsc.bcm.edu	37	19	39039030	39039030	+	Silent	SNP	T	T	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:39039030T>C	ENST00000359596.3	+	89	12252	c.12252T>C	c.(12250-12252)cgT>cgC	p.R4084R	RYR1_ENST00000360985.3_Silent_p.R4079R|RYR1_ENST00000355481.4_Silent_p.R4079R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4084					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGGATCCCCGTGGCCTCATCT	0.557																																																0													132	113	119					19																	39039030		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12252T>C	chr19.hg19:g.39039030T>C			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	hg19	CCDS33011.1																																																																																				0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			C	39039030	T	C	39039030	2	2	296	1	0	0	0	0	0	0	0	1	13774	1683	59	3		3	RYR1	19	39039030	Silent	SNP	T	TCGA-B9-4117-01A-01D-1252-08	4117546	39039030	20089953	52	17599											
FCGBP	8857	hgsc.bcm.edu	37	19	40366038	40366038	+	Silent	SNP	C	C	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:40366038C>G	ENST00000221347.6	-	30	14203	c.14196G>C	c.(14194-14196)ccG>ccC	p.P4732P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4732						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACAGAAGTCCGGCCGCCTCC	0.647																																																0																																										SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14196G>C	chr19.hg19:g.40366038C>G			O95784	Silent	SNP	ENST00000221347.6	hg19	CCDS12546.1																																																																																				0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		G	40366038	C	G	40366038	2	3	296	1	0	0	0	0	0	0	0	1	5780	639	23	4		4	FCGBP	19	40366038	Silent	SNP	C	TCGA-B9-4117-01A-01D-1252-08	1327008	40366038	18762945	53	17600											
NUCB1	4924	hgsc.bcm.edu	37	19	49422348	49422348	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:49422348G>A	ENST00000405315.4	+	9	1212	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Missense_Mutation_p.R293Q|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_Missense_Mutation_p.R293Q	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	293	Binds to GNAI2 and GNAI3. {ECO:0000250}.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAGGAGGAGCGACTGCGCATG	0.612																																																0													56	58	58					19																	49422348		2203	4300	6503	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.878G>A	chr19.hg19:g.49422348G>A	ENSP00000385923:p.Arg293Gln		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	hg19	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.875643|5.875643	0.97055|0.97055	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000424608|ENST00000405315;ENST00000407032;ENST00000263273	.|T;T;T	.|0.71698	.|-0.59;-0.59;-0.59	5.01|5.01	5.01|5.01	0.66863|0.66863	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81437|0.81437	0.4822|0.4822	M|M	0.64630|0.64630	1.985|1.985	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72982	.|0.979;0.979	T|T	0.80596|0.80596	-0.1312|-0.1312	5|10	.|0.40728	.|T	.|0.16	.|.	16.1855|16.1855	0.81948|0.81948	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|293;293	.|Q02818;Q53GX6	.|NUCB1_HUMAN;.	N|Q	263|293	.|ENSP00000385923:R293Q;ENSP00000385211:R293Q;ENSP00000263273:R293Q	.|ENSP00000263273:R293Q	D|R	+|+	1|2	0|0	NUCB1|NUCB1	54114160|54114160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.177000|9.177000	0.94849|0.94849	2.514000|2.514000	0.84764|0.84764	0.591000|0.591000	0.81541|0.81541	GAC|CGA		0.612	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		A	49422348	G	A	49422348	3	1	296	1	0	0	0	0	1	0	0	0	10720	1058	37	1	908	1	NUCB1	19	49422348	Missense_Mutation	SNP	G	TCGA-B9-4117-01A-01D-1252-08	9056310	49422348	9706635	54	17601											
ZNF665	79788	hgsc.bcm.edu	37	19	53668284	53668284	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:53668284T>A	ENST00000600412.1	-	2	1379	c.1264A>T	c.(1264-1266)Aag>Tag	p.K422*	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Nonsense_Mutation_p.K487*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCATCACACTTGTAAGGTTTC	0.413																																																0													91	95	93					19																	53668284		2203	4300	6503	SO:0001587	stop_gained	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1264A>T	chr19.hg19:g.53668284T>A	ENSP00000469154:p.Lys422*		A8K5T8	Nonsense_Mutation	SNP	ENST00000600412.1	hg19		.	.	.	.	.	.	.	.	.	.	T	17.85	3.490740	0.64074	.	.	ENSG00000197497	ENST00000396424	.	.	.	2.18	1.14	0.20703	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3597	0.21420	0.0:0.1475:0.0:0.8525	.	.	.	.	X	487	.	ENSP00000379702:K487X	K	-	1	0	ZNF665	58360096	0.000000	0.05858	0.027000	0.17364	0.049000	0.14656	-2.447000	0.01010	1.001000	0.39076	0.358000	0.22013	AAG		0.413	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		A	53668284	T	A	53668284	4	1	296	1	0	0	0	0	0	1	0	0	18078	1821	63	5	581	5	ZNF665	19	53668284	Nonsense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08	4245936	53668284	5460699	55	17602											
LILRB2	10288	hgsc.bcm.edu	37	19	54783677	54783677	+	Silent	SNP	C	C	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:54783677C>T	ENST00000391749.4	-	4	595	c.324G>A	c.(322-324)gaG>gaA	p.E108E	LILRB2_ENST00000314446.5_Silent_p.E108E|LILRB2_ENST00000391746.1_Silent_p.E108E|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_Silent_p.E108E|MIR4752_ENST00000579672.1_RNA	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	108	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACTGAGCTCAGACCACC	0.602																																																0													105	105	105					19																	54783677		2203	4300	6503	SO:0001819	synonymous_variant	10288			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.324G>A	chr19.hg19:g.54783677C>T			A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	hg19	CCDS12886.1																																																																																				0.602	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			T	54783677	C	T	54783677	2	4	296	1	0	0	0	0	0	0	0	1	8793	796	28	2		2	LILRB2	19	54783677	Silent	SNP	C	TCGA-B9-4117-01A-01D-1252-08	1115393	54783677	4345306	56	17603											
ZNF71	58491	hgsc.bcm.edu	37	19	57133670	57133670	+	Missense_Mutation	SNP	T	T	G	rs575219516		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:57133670T>G	ENST00000328070.6	+	3	1249	c.1015T>G	c.(1015-1017)Tcc>Gcc	p.S339A		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S339A(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CAGCCAGAGCTCCTACCTCAT	0.632													.|||	1	0.000199681	0.0	0.0014	5008	,	,		21342	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	endometrium(1)											87	80	82					19																	57133670		2203	4300	6503	SO:0001583	missense	58491			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1015T>G	chr19.hg19:g.57133670T>G	ENSP00000328245:p.Ser339Ala		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	hg19	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726062	0.30593	.	.	ENSG00000197951	ENST00000328070	T	0.35421	1.31	3.76	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34135	0.0887	M	0.69358	2.11	0.09310	N	1	B	0.21452	0.056	B	0.15052	0.012	T	0.27157	-1.0082	9	0.44086	T	0.13	.	8.5519	0.33458	0.0:0.0:0.3775:0.6225	.	339	Q9NQZ8	ZNF71_HUMAN	A	339	ENSP00000328245:S339A	ENSP00000328245:S339A	S	+	1	0	ZNF71	61825482	0.000000	0.05858	0.996000	0.52242	0.982000	0.71751	-3.336000	0.00507	0.480000	0.27534	0.459000	0.35465	TCC		0.632	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		G	57133670	T	G	57133670	3	3	296	1	0	0	0	0	1	0	0	0	18119	1551	54	5	1017	5	ZNF71	19	57133670	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08	2349993	57133670	1995313	57	17604											
AHCY	191	hgsc.bcm.edu	37	20	32868894	32868914	+	In_Frame_Del	DEL	CTGGGCTTGCTTCTCAGTTAG	CTGGGCTTGCTTCTCAGTTAG	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	CTGGGCTTGCTTCTCAGTTAG	CTGGGCTTGCTTCTCAGTTAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr20:32868894_32868914delCTGGGCTTGCTTCTCAGTTAG	ENST00000217426.2	-	10	1302_1322	c.1225_1245delCTAACTGAGAAGCAAGCCCAG	c.(1225-1245)ctaactgagaagcaagcccagdel	p.LTEKQAQ409del	RP4-785G19.5_ENST00000512005.1_RNA|AHCY_ENST00000538132.1_In_Frame_Del_p.LTEKQAQ381del|CTD-3216D2.5_ENST00000609218.1_RNA	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	409					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCCCAGGTACTGGGCTTGCTTCTCAGTTAGCTTGGTCAAC	0.566																																																0																																										SO:0001651	inframe_deletion	191			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"S-adenosylhomocysteine hydrolase"			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1225_1245delCTAACTGAGAAGCAAGCCCAG	chr20.hg19:g.32868894_32868914delCTGGGCTTGCTTCTCAGTTAG	ENSP00000217426:p.Leu409_Gln415del		A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	In_Frame_Del	DEL	ENST00000217426.2	hg19	CCDS13233.1																																																																																				0.566	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		-	32868914	CTGGGCTTGCTTCTCAGTTAG	-	32868894	7	5	296	1	0	1	0	1	0	0	0	0	409	564	20	0	57	0	AHCY	20	32868894	In_Frame_Del	DEL	CTGGGCTTGCTTCTCAGTTAG	TCGA-B9-4117-01A-01D-1252-08		32868894	30156626	58	17605											
CTCFL	140690	hgsc.bcm.edu	37	20	56098886	56098887	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr20:56098886_56098887insC	ENST00000608263.1	-	1	1036_1037	c.375_376insG	c.(373-378)gggcccfs	p.P126fs	CTCFL_ENST00000423479.3_Frame_Shift_Ins_p.P126fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Ins_p.P126fs|CTCFL_ENST00000422869.2_Frame_Shift_Ins_p.P126fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608158.1_Frame_Shift_Ins_p.P126fs|CTCFL_ENST00000608440.1_Frame_Shift_Ins_p.P126fs|CTCFL_ENST00000432255.2_Frame_Shift_Ins_p.P126fs|CTCFL_ENST00000609232.1_Frame_Shift_Ins_p.P126fs|CTCFL_ENST00000243914.3_Frame_Shift_Ins_p.P126fs|CTCFL_ENST00000429804.3_Frame_Shift_Ins_p.P126fs|CTCFL_ENST00000608425.1_Frame_Shift_Ins_p.P126fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000481655.2_Frame_Shift_Ins_p.P126fs|CTCFL_ENST00000433949.3_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	126					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCTGCCGGGGCCCTTCCTCAA	0.579																																																0																																										SO:0001589	frameshift_variant	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.376dupG	chr20.hg19:g.56098889_56098889dupC	ENSP00000476783:p.Pro126fs		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Ins	INS	ENST00000608263.1	hg19	CCDS13459.1																																																																																				0.579	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		C	56098887	-	C	56098886	7	5	296	1	0	1	1	0	0	0	0	0	4003	1203	42	0	1655	0	CTCFL	20	56098886	Frame_Shift_Ins	INS	-	TCGA-B9-4117-01A-01D-1252-08	23229992	56098886	6926634	59	17606											
NF2	4771	hgsc.bcm.edu	37	22	30000103	30000103	+	Splice_Site	SNP	T	T	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr22:30000103T>G	ENST00000338641.4	+	1	555		c.e1+2		NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000413209.2_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000347330.5_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000361676.4_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AATTGCGAGGTAACCGGCCGG	0.562			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	1	Unknown(1)	lung(1)											35	25	29					22																	30000103		2202	4299	6501	SO:0001630	splice_region_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.114+2T>G	chr22.hg19:g.30000103T>G			O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	hg19	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472138	0.84533	.	.	ENSG00000186575	ENST00000413209;ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0321	0.71717	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28330103	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	5.795000	0.69074	2.034000	0.60081	0.459000	0.35465	.		0.562	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	G	30000103	T	G	30000103	5	3	296	1	0	0	0	0	0	0	1	0	10359	1652	57	5	118	5	NF2	22	30000103	Splice_Site	SNP	T	TCGA-B9-4117-01A-01D-1252-08		30000103	21304463	60	17607											
MAOA	4128	hgsc.bcm.edu	37	X	43590945	43590945	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:43590945A>C	ENST00000338702.3	+	8	923	c.800A>C	c.(799-801)aAa>aCa	p.K267T	MAOA_ENST00000542639.1_Missense_Mutation_p.K134T	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	267					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	TTTTAGTGCAAATACGTAATT	0.418																																																0													110	82	92					X																	43590945		2203	4300	6503	SO:0001583	missense	4128				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.800A>C	chrX.hg19:g.43590945A>C	ENSP00000340684:p.Lys267Thr		B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	hg19	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.367611	0.24771	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.92699	-3.09;-3.09	5.81	-4.19	0.03835	Amine oxidase (1);	0.452762	0.27682	N	0.018281	D	0.92280	0.7551	M	0.86420	2.815	0.40067	D	0.975962	B	0.20887	0.049	B	0.28991	0.097	T	0.76729	-0.2852	10	0.72032	D	0.01	.	16.9162	0.86152	0.7596:0.0:0.2404:0.0	.	267	P21397	AOFA_HUMAN	T	267;134	ENSP00000340684:K267T;ENSP00000440846:K134T	ENSP00000340684:K267T	K	+	2	0	MAOA	43475889	0.137000	0.22531	0.008000	0.14137	0.362000	0.29581	-0.156000	0.10100	-1.760000	0.01312	-0.488000	0.04728	AAA		0.418	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		C	43590945	A	C	43590945	3	2	296	1	0	0	0	0	1	0	0	0	9227	14	1	5	830	5	MAOA	23	43590945	Missense_Mutation	SNP	A	TCGA-B9-4117-01A-01D-1252-08		43590945	111679615	61	17608											
NOX1	27035	hgsc.bcm.edu	37	X	100099033	100099033	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:100099033T>C	ENST00000372966.3	-	13	1808	c.1603A>G	c.(1603-1605)Act>Gct	p.T535A	NOX1_ENST00000217885.5_Missense_Mutation_p.T486A|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.T498A	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	535	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTTGCCAAAGTCCGAGGGCCA	0.433																																																0													65	51	55					X																	100099033		2202	4299	6501	SO:0001583	missense	27035			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1603A>G	chrX.hg19:g.100099033T>C	ENSP00000362057:p.Thr535Ala		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	hg19	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	t	0.927	-0.714078	0.03206	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;T;D	0.94650	-3.48;0.09;-3.48	5.09	-0.337	0.12654	Ferric reductase, NAD binding (1);	0.458064	0.22296	N	0.061923	T	0.70456	0.3226	N	0.00277	-1.72	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.70938	-0.4736	10	0.02654	T	1	-0.2036	5.1658	0.15084	0.0:0.3874:0.3302:0.2825	.	498;486;535	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	A	535;486;498	ENSP00000362057:T535A;ENSP00000217885:T486A;ENSP00000362051:T498A	ENSP00000217885:T486A	T	-	1	0	NOX1	99985689	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	0.069000	0.14552	-0.326000	0.08564	0.483000	0.47432	ACT		0.433	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		C	100099033	T	C	100099033	3	2	296	1	0	0	0	0	1	0	0	0	10558	1667	58	3	95	3	NOX1	23	100099033	Missense_Mutation	SNP	T	TCGA-B9-4117-01A-01D-1252-08	56508088	100099033	55171527	62	17609											
ECE1	1889	hgsc.bcm.edu	37	1	21585300	21585300	+	Silent	SNP	G	G	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr1:21585300G>T	ENST00000374893.6	-	6	722	c.648C>A	c.(646-648)gcC>gcA	p.A216A	ECE1_ENST00000357071.4_Silent_p.A204A|ECE1_ENST00000264205.6_Silent_p.A213A|ECE1_ENST00000415912.2_Silent_p.A200A|ECE1_ENST00000436918.2_Silent_p.A216A|ECE1_ENST00000528294.1_5'Flank	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	216					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGTTGTCCTTGGCCCAGGGAC	0.597																																																0													156	119	132					1																	21585300		2203	4300	6503	SO:0001819	synonymous_variant	1889			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.648C>A	chr1.hg19:g.21585300G>T			A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Silent	SNP	ENST00000374893.6	hg19	CCDS215.1																																																																																				0.597	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		T	21585300	G	T	21585300	2	4	297	1	0	0	0	0	0	0	0	1	4891	1335	47	4		4	ECE1	1	21585300	Silent	SNP	G	TCGA-B9-4617-01A-01D-1252-08		21585300	227665321	1	17610											
KCNC4	3749	hgsc.bcm.edu	37	1	110768796	110768796	+	Silent	SNP	G	G	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr1:110768796G>A	ENST00000369787.3	+	3	1842	c.1815G>A	c.(1813-1815)cgG>cgA	p.R605R	KCNC4_ENST00000413138.3_Silent_p.R605R|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.R605R	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	605					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTAGTGTCCGGAAAGGTATGG	0.642																																																0													50	56	54					1																	110768796		2203	4300	6503	SO:0001819	synonymous_variant	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1815G>A	chr1.hg19:g.110768796G>A			Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	hg19	CCDS821.1																																																																																				0.642	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		A	110768796	G	A	110768796	2	1	297	1	0	0	0	0	0	0	0	1	8019	1161	41	2		2	KCNC4	1	110768796	Silent	SNP	G	TCGA-B9-4617-01A-01D-1252-08	89183496	110768796	138481825	2	17611											
ITLN2	142683	hgsc.bcm.edu	37	1	160924190	160924190	+	Missense_Mutation	SNP	A	A	T	rs145856391		TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr1:160924190A>T	ENST00000368029.3	-	2	123	c.66T>A	c.(64-66)agT>agA	p.S22R		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	22						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACTGCACCCACTGGTGGCCA	0.552											OREG0013934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													101	93	96					1																	160924190		2201	4298	6499	SO:0001583	missense	142683			AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"Fibrinogen C domain containing"	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.66T>A	chr1.hg19:g.160924190A>T	ENSP00000357008:p.Ser22Arg	1812	Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	hg19	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.158971	0.00321	.	.	ENSG00000158764	ENST00000368029	T	0.17691	2.26	3.74	0.0268	0.14151	.	1.672490	0.04351	N	0.355594	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38265	-0.9669	10	0.12103	T	0.63	-0.4519	0.7369	0.00967	0.343:0.1034:0.1768:0.3767	.	22;22	A6NI51;Q8WWU7	.;ITLN2_HUMAN	R	22	ENSP00000357008:S22R	ENSP00000357008:S22R	S	-	3	2	ITLN2	159190814	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	-0.072000	0.11486	-0.250000	0.09555	-2.614000	0.00158	AGT		0.552	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		T	160924190	A	T	160924190	3	4	297	1	0	0	0	0	1	0	0	0	7913	156	6	5	939	5	ITLN2	1	160924190	Missense_Mutation	SNP	A	TCGA-B9-4617-01A-01D-1252-08	50155394	160924190	88326431	3	17612											
NIT1	4817	hgsc.bcm.edu	37	1	161090544	161090544	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr1:161090544C>A	ENST00000368009.2	+	7	1049	c.973C>A	c.(973-975)Cca>Aca	p.P325T	DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000392190.5_Missense_Mutation_p.P289T|NIT1_ENST00000368008.1_Intron|PFDN2_ENST00000368010.3_5'Flank|PFDN2_ENST00000468311.1_5'Flank|NIT1_ENST00000368007.4_Missense_Mutation_p.P310T	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	325					nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCTGGGTCACCCACTGTCTTA	0.567																																																0													50	44	46					1																	161090544		2202	4299	6501	SO:0001583	missense	4817			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.973C>A	chr1.hg19:g.161090544C>A	ENSP00000356988:p.Pro325Thr		B1AQP3|D3DVF4|O76091	Missense_Mutation	SNP	ENST00000368009.2	hg19	CCDS1218.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763738	0.31228	.	.	ENSG00000158793	ENST00000368009;ENST00000368007;ENST00000392190	T;T;T	0.78481	-1.16;-1.18;-1.13	4.9	4.9	0.64082	.	0.347201	0.28365	N	0.015606	T	0.69070	0.3070	N	0.08118	0	0.35810	D	0.823791	D;P	0.89917	1.0;0.61	D;B	0.83275	0.996;0.262	T	0.75687	-0.3231	10	0.45353	T	0.12	-10.3808	13.4666	0.61258	0.0:1.0:0.0:0.0	.	310;325	Q86X76-4;Q86X76	.;NIT1_HUMAN	T	325;310;289	ENSP00000356988:P325T;ENSP00000356986:P310T;ENSP00000376028:P289T	ENSP00000356986:P310T	P	+	1	0	NIT1	159357168	0.046000	0.20272	0.938000	0.37757	0.597000	0.36814	1.708000	0.37899	2.551000	0.86045	0.563000	0.77884	CCA		0.567	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077060.1			A	161090544	C	A	161090544	3	1	297	1	0	0	0	0	1	0	0	0	10435	623	22	4	1056	4	NIT1	1	161090544	Missense_Mutation	SNP	C	TCGA-B9-4617-01A-01D-1252-08	166354	161090544	88160077	4	17613											
LTBP1	4052	hgsc.bcm.edu	37	2	33622241	33622241	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:33622241G>T	ENST00000404816.2	+	33	5229	c.4876G>T	c.(4876-4878)Ggc>Tgc	p.G1626C	LTBP1_ENST00000390003.4_Missense_Mutation_p.G1301C|LTBP1_ENST00000418533.2_Missense_Mutation_p.G1258C|LTBP1_ENST00000404525.1_Missense_Mutation_p.G1247C|LTBP1_ENST00000402934.1_Missense_Mutation_p.G1245C|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1627C|LTBP1_ENST00000407925.1_Missense_Mutation_p.G1300C|LTBP1_ENST00000272273.5_Missense_Mutation_p.G524C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1626	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGAGGAATGCGGCATCCTCAA	0.453																																																0													166	152	157					2																	33622241		2203	4300	6503	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4876G>T	chr2.hg19:g.33622241G>T	ENSP00000386043:p.Gly1626Cys		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	hg19	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920839	0.92249	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.49	5.49	0.81192	Matrix fibril-associated (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.93779	0.8011	M	0.78916	2.43	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;1.0;1.0;1.0;1.0;1.0	D	0.93794	0.7095	9	0.66056	D	0.02	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	524;1626;1258;1247;1300;1301;1627	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	C	1626;1627;1301;1258;1245;1247;1300;524	ENSP00000386043:G1626C;ENSP00000346467:G1627C;ENSP00000374653:G1301C;ENSP00000393057:G1258C;ENSP00000384373:G1245C;ENSP00000385359:G1247C;ENSP00000384091:G1300C;ENSP00000272273:G524C	ENSP00000272273:G524C	G	+	1	0	LTBP1	33475745	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.733000	0.93635	0.655000	0.94253	GGC		0.453	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		T	33622241	G	T	33622241	3	4	297	1	0	0	0	0	1	0	0	0	9075	1116	39	4	5061	4	LTBP1	2	33622241	Missense_Mutation	SNP	G	TCGA-B9-4617-01A-01D-1252-08		33622241	209577132	5	17614											
C2orf78	388960	hgsc.bcm.edu	37	2	74043217	74043217	+	Silent	SNP	C	C	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:74043217C>A	ENST00000409561.1	+	3	1988	c.1867C>A	c.(1867-1869)Cga>Aga	p.R623R		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	623										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TAAAAAGCCCCGAAGCTCCCT	0.453																																																0													72	69	70					2																	74043217		1840	4088	5928	SO:0001819	synonymous_variant	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1867C>A	chr2.hg19:g.74043217C>A				Silent	SNP	ENST00000409561.1	hg19	CCDS46338.1																																																																																				0.453	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		A	74043217	C	A	74043217	2	1	297	1	0	0	0	0	0	0	0	1	2197	644	23	4		4	C2orf78	2	74043217	Silent	SNP	C	TCGA-B9-4617-01A-01D-1252-08	40420976	74043217	169156156	6	17615											
DARS	1615	hgsc.bcm.edu	37	2	136680361	136680361	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:136680361A>C	ENST00000264161.4	-	9	1019	c.804T>G	c.(802-804)atT>atG	p.I268M	DARS_ENST00000537273.1_Missense_Mutation_p.I168M	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	268					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TACCTGGTCCAATAGAGAAAA	0.308																																																0													81	81	81					2																	136680361		2203	4300	6503	SO:0001583	missense	1615			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.804T>G	chr2.hg19:g.136680361A>C	ENSP00000264161:p.Ile268Met		A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	hg19	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.714290	0.68730	.	.	ENSG00000115866	ENST00000264161;ENST00000537273	D;D	0.84730	-1.89;-1.89	5.71	5.71	0.89125	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.105460	0.64402	D	0.000004	D	0.94820	0.8327	H	0.96547	3.84	0.53688	D	0.999978	D	0.58970	0.984	D	0.70227	0.968	D	0.96332	0.9244	10	0.87932	D	0	-18.2315	15.9798	0.80097	1.0:0.0:0.0:0.0	.	268	P14868	SYDC_HUMAN	M	268;168	ENSP00000264161:I268M;ENSP00000444192:I168M	ENSP00000264161:I268M	I	-	3	3	DARS	136396831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.221000	0.42917	2.169000	0.68431	0.477000	0.44152	ATT		0.308	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		C	136680361	A	C	136680361	3	2	297	1	0	0	0	0	1	0	0	0	4243	126	5	5	733	5	DARS	2	136680361	Missense_Mutation	SNP	A	TCGA-B9-4617-01A-01D-1252-08	62637144	136680361	106519012	7	17616											
PPIG	9360	hgsc.bcm.edu	37	2	170460568	170460568	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:170460568A>G	ENST00000260970.3	+	3	237	c.17A>G	c.(16-18)cAa>cGa	p.Q6R	PPIG_ENST00000409714.3_Missense_Mutation_p.Q6R|PPIG_ENST00000448752.2_Missense_Mutation_p.Q6R|PPIG_ENST00000462903.1_Missense_Mutation_p.Q6R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	6					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATAAAGGTTCAACGTCCTCGA	0.308																																																0													95	97	96					2																	170460568		2203	4300	6503	SO:0001583	missense	9360			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.17A>G	chr2.hg19:g.170460568A>G	ENSP00000260970:p.Gln6Arg		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	hg19	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854084	0.51270	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000418888;ENST00000414307	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.19	4.0	0.46444	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (1);Cyclophilin-like (1);	0.066333	0.64402	D	0.000008	T	0.35393	0.0930	N	0.17800	0.525	0.43403	D	0.995537	B;B;B;P	0.35107	0.149;0.149;0.444;0.484	B;B;B;B	0.43623	0.058;0.058;0.425;0.407	T	0.16600	-1.0397	10	0.41790	T	0.15	-4.8499	12.2535	0.54611	0.8577:0.1423:0.0:0.0	.	6;6;6;6	E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;PPIG_HUMAN	R	6	ENSP00000260970:Q6R;ENSP00000386245:Q6R;ENSP00000435987:Q6R;ENSP00000407083:Q6R;ENSP00000394202:Q6R;ENSP00000402222:Q6R	ENSP00000260970:Q6R	Q	+	2	0	PPIG	170168814	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	4.391000	0.59652	0.887000	0.36136	0.459000	0.35465	CAA		0.308	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			G	170460568	A	G	170460568	3	3	297	1	0	0	0	0	1	0	0	0	12329	130	5	3	19	3	PPIG	2	170460568	Missense_Mutation	SNP	A	TCGA-B9-4617-01A-01D-1252-08	33780207	170460568	72738805	8	17617											
ZAK	51776	hgsc.bcm.edu	37	2	174097114	174097114	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:174097114G>T	ENST00000375213.3	+	14	1208	c.1130G>T	c.(1129-1131)cGg>cTg	p.R377L	MLTK_ENST00000409176.2_Missense_Mutation_p.R377L|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		377	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										ACAGGGAAGCGGCTGCTGCTG	0.428																																																0													156	157	157					2																	174097114		1971	4169	6140	SO:0001583	missense	0																														ENST00000375213.3:c.1130G>T	chr2.hg19:g.174097114G>T	ENSP00000364361:p.Arg377Leu		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	hg19	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682483	0.88542	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.47528	0.84;0.84	5.8	5.8	0.92144	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.051262	0.64402	D	0.000001	T	0.56485	0.1988	L	0.41573	1.285	0.80722	D	1	D	0.56287	0.975	P	0.58520	0.84	T	0.57585	-0.7786	10	0.87932	D	0	.	15.1807	0.72956	0.069:0.0:0.931:0.0	.	377	Q9NYL2	MLTK_HUMAN	L	377	ENSP00000387259:R377L;ENSP00000364361:R377L	ENSP00000364361:R377L	R	+	2	0	AC013461.1	173805360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.414000	0.66405	2.736000	0.93811	0.643000	0.83706	CGG		0.428	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			T	174097114	G	T	174097114	3	4	297	1	0	0	0	0	1	0	0	0	17517	1116	39	4	1565	4	ZAK	2	174097114	Missense_Mutation	SNP	G	TCGA-B9-4617-01A-01D-1252-08	3636546	174097114	69102259	9	17618											
GLS	2744	hgsc.bcm.edu	37	2	191827660	191827660	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:191827660A>G	ENST00000320717.3	+	18	2216	c.1958A>G	c.(1957-1959)gAc>gGc	p.D653G	GLS_ENST00000409428.1_Missense_Mutation_p.D158G	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	653					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GGAGATTCTGACAACGGGAAG	0.378																																																0													100	94	96					2																	191827660		2203	4300	6503	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1958A>G	chr2.hg19:g.191827660A>G	ENSP00000317379:p.Asp653Gly		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	hg19	CCDS2308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.749|6.749	0.506930|0.506930	0.12883|0.12883	.|.	.|.	ENSG00000115419|ENSG00000115419	ENST00000320717;ENST00000409428|ENST00000412247	T;T|.	0.52295|.	0.99;0.67|.	5.34|5.34	2.91|2.91	0.33838|0.33838	.|.	0.568432|.	0.20287|.	N|.	0.095338|.	T|T	0.22244|0.22244	0.0536|0.0536	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.15930|.	0.015;0.015|.	B;B|.	0.15870|.	0.014;0.014|.	T|T	0.21861|0.21861	-1.0233|-1.0233	10|6	0.23302|0.19147	T|T	0.38|0.46	-10.5512|-10.5512	9.8019|9.8019	0.40770|0.40770	0.7963:0.0:0.2037:0.0|0.7963:0.0:0.2037:0.0	.|.	653;653|.	A8K132;O94925|.	.;GLSK_HUMAN|.	G|A	653;158|153	ENSP00000317379:D653G;ENSP00000387177:D158G|.	ENSP00000317379:D653G|ENSP00000403329:T153A	D|T	+|+	2|1	0|0	GLS|GLS	191535905|191535905	0.329000|0.329000	0.24696|0.24696	0.798000|0.798000	0.32154|0.32154	0.981000|0.981000	0.71138|0.71138	2.092000|2.092000	0.41700|0.41700	1.036000|1.036000	0.39998|0.39998	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.378	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			G	191827660	A	G	191827660	3	3	297	1	0	0	0	0	1	0	0	0	6465	275	10	3	2028	3	GLS	2	191827660	Missense_Mutation	SNP	A	TCGA-B9-4617-01A-01D-1252-08	17730546	191827660	51371713	10	17619											
CYP20A1	57404	hgsc.bcm.edu	37	2	204154489	204154489	+	Splice_Site	SNP	T	T	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:204154489T>C	ENST00000356079.4	+	10	1096	c.973T>C	c.(973-975)Tat>Cat	p.Y325H	CYP20A1_ENST00000429815.2_Splice_Site_p.Y333H|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	325						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTAAAACAGATATTGTCAGCA	0.328																																																0													46	46	46					2																	204154489		2203	4300	6503	SO:0001630	splice_region_variant	57404			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.972-1T>C	chr2.hg19:g.204154489T>C			Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	hg19	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045301	0.75846	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815	T;T	0.76186	-1.0;-1.0	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89608	0.3839	10	0.87932	D	0	-12.683	15.831	0.78752	0.0:0.0:0.0:1.0	.	333;325	E9PHG5;Q6UW02	.;CP20A_HUMAN	H	325;298;333	ENSP00000348380:Y325H;ENSP00000407860:Y333H	ENSP00000348380:Y325H	Y	+	1	0	CYP20A1	203862734	1.000000	0.71417	0.984000	0.44739	0.845000	0.48019	6.587000	0.74071	2.154000	0.67381	0.473000	0.43528	TAT		0.328	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674	Missense_Mutation	C	204154489	T	C	204154489	5	2	297	1	0	0	0	0	0	0	1	0	4154	1420	49	3	1011	3	CYP20A1	2	204154489	Splice_Site	SNP	T	TCGA-B9-4617-01A-01D-1252-08	12326829	204154489	39044884	11	17620											
HDLBP	3069	hgsc.bcm.edu	37	2	242170343	242170343	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr2:242170343G>C	ENST00000391975.1	-	25	3532	c.3305C>G	c.(3304-3306)aCc>aGc	p.T1102S	HDLBP_ENST00000427183.2_Missense_Mutation_p.T1069S|HDLBP_ENST00000310931.4_Missense_Mutation_p.T1102S|HDLBP_ENST00000391976.2_Missense_Mutation_p.T1102S	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1102	KH 13. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCTGTGATGGTAATTTGGTC	0.527																																																0													109	94	99					2																	242170343		2203	4300	6503	SO:0001583	missense	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3305C>G	chr2.hg19:g.242170343G>C	ENSP00000375836:p.Thr1102Ser		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	hg19	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150608	0.37923	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.53	4.66	0.58398	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.092124	0.85682	D	0.000000	T	0.30293	0.0760	L	0.52266	1.64	0.54753	D	0.999981	B;B	0.31318	0.319;0.16	B;B	0.39465	0.236;0.3	T	0.04333	-1.0959	10	0.12103	T	0.63	-51.7385	10.7199	0.46034	0.1453:0.0:0.8547:0.0	.	1069;1102	E7EM71;Q00341	.;VIGLN_HUMAN	S	1102;1102;1102;1069	ENSP00000375836:T1102S;ENSP00000375837:T1102S;ENSP00000312042:T1102S;ENSP00000399139:T1069S	ENSP00000312042:T1102S	T	-	2	0	HDLBP	241819016	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	6.493000	0.73658	1.352000	0.45808	-0.156000	0.13503	ACC		0.527	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		C	242170343	G	C	242170343	3	2	297	1	0	0	0	0	1	0	0	0	7027	1261	44	4	517	4	HDLBP	2	242170343	Missense_Mutation	SNP	G	TCGA-B9-4617-01A-01D-1252-08	38015854	242170343	1029030	12	17621											
ZNF501	115560	hgsc.bcm.edu	37	3	44776081	44776081	+	Silent	SNP	A	A	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr3:44776081A>G	ENST00000396048.2	+	3	605	c.168A>G	c.(166-168)ggA>ggG	p.G56G		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GTGAATGTGGAAGTTGTTTCC	0.403																																																0													94	107	103					3																	44776081		2188	4293	6481	SO:0001819	synonymous_variant	115560			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"Zinc fingers, C2H2-type"	23717	protein-coding gene	gene with protein product			"zinc finger protein 52"	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.168A>G	chr3.hg19:g.44776081A>G			B4DLY7|Q96NU9	Silent	SNP	ENST00000396048.2	hg19	CCDS2720.2																																																																																				0.403	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044		G	44776081	A	G	44776081	2	3	297	1	0	0	0	0	0	0	0	1	17954	233	9	3		3	ZNF501	3	44776081	Silent	SNP	A	TCGA-B9-4617-01A-01D-1252-08		44776081	153246349	13	17622											
RUVBL1	8607	hgsc.bcm.edu	37	3	127831784	127831784	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr3:127831784G>A	ENST00000322623.5	-	3	407	c.308C>T	c.(307-309)tCa>tTa	p.S103L	RUVBL1_ENST00000417360.1_Missense_Mutation_p.S103L|RUVBL1_ENST00000464873.1_Missense_Mutation_p.S43L	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	103					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GATCTCAGTTGAGTAAACTTC	0.502																																																0													154	141	146					3																	127831784		2203	4300	6503	SO:0001583	missense	8607			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"INO80 complex subunits", "ATPases / AAA-type"	10474	protein-coding gene	gene with protein product	"pontin", "INO80 complex subunit H"	603449	"RuvB (E coli homolog)-like 1", "RuvB-like 1 (E. coli)", "RuvB-like AAA ATPase"			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.308C>T	chr3.hg19:g.127831784G>A	ENSP00000318297:p.Ser103Leu		B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	hg19	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	G	35	5.572289	0.96553	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360	T;T;T	0.74209	-0.82;-0.5;-0.06	5.79	5.79	0.91817	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.92140	0.7508	H	0.98577	4.27	0.80722	D	1	D;D;P	0.63046	0.992;0.983;0.884	P;D;P	0.69142	0.897;0.962;0.766	D	0.94607	0.7801	10	0.87932	D	0	-15.933	20.0349	0.97554	0.0:0.0:1.0:0.0	.	103;103;43	Q9Y265-2;Q9Y265;E7ETR0	.;RUVB1_HUMAN;.	L	43;103;103	ENSP00000420738:S43L;ENSP00000318297:S103L;ENSP00000393755:S103L	ENSP00000318297:S103L	S	-	2	0	RUVBL1	129314474	1.000000	0.71417	0.963000	0.40424	0.881000	0.50899	9.869000	0.99810	2.735000	0.93741	0.591000	0.81541	TCA		0.502	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			A	127831784	G	A	127831784	3	1	297	1	0	0	0	0	1	0	0	0	13758	1294	45	2	1098	2	RUVBL1	3	127831784	Missense_Mutation	SNP	G	TCGA-B9-4617-01A-01D-1252-08	83055703	127831784	70190646	14	17623											
WDFY3	23001	hgsc.bcm.edu	37	4	85630153	85630153	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr4:85630153delA	ENST00000295888.4	-	53	8533	c.8126delT	c.(8125-8127)ttgfs	p.L2709fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.L2692fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2709	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAATGCATCAAATATTGGAA	0.343																																																0													111	114	113					4																	85630153		2203	4300	6503	SO:0001589	frameshift_variant	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8126delT	chr4.hg19:g.85630153delA	ENSP00000295888:p.Leu2709fs		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	hg19	CCDS3609.1																																																																																				0.343	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		-	85630153	A	-	85630153	7	5	297	1	0	1	0	1	0	0	0	0	17275	131	5	0	2518	0	WDFY3	4	85630153	Frame_Shift_Del	DEL	A	TCGA-B9-4617-01A-01D-1252-08		85630153	105524123	15	17624											
MCCC2	64087	hgsc.bcm.edu	37	5	70931074	70931075	+	Splice_Site	INS	-	-	TA			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr5:70931074_70931075insTA	ENST00000340941.6	+	10	1128		c.e10+1		MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Splice_Site|MCCC2_ENST00000509358.2_Splice_Site	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)						biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TGTCCGAGAGGTATGTGAAAGT	0.406																																																0																																										SO:0001630	splice_region_variant	64087			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.999+1->TA	chr5.hg19:g.70931075_70931076dupTA			A6NIY9|Q96C27|Q9Y4L7	Splice_Site	INS	ENST00000340941.6	hg19	CCDS34184.1																																																																																				0.406	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4		Intron	TA	70931075	-	TA	70931074	8	5	297	1	0	1	1	0	0	0	1	0	9377	1275	44	0	1038	0	MCCC2	5	70931074	Splice_Site	INS	-	TCGA-B9-4617-01A-01D-1252-08		70931074	109984186	16	17625											
PCDH1	5097	hgsc.bcm.edu	37	5	141233645	141233645	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr5:141233645C>G	ENST00000287008.3	-	5	3823	c.3676G>C	c.(3676-3678)Gca>Cca	p.A1226P	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGGCAGATGCCGGTGTGGCT	0.667																																					Ovarian(132;1609 1739 4190 14731 45037)											0													24	31	29					5																	141233645		2203	4300	6503	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3676G>C	chr5.hg19:g.141233645C>G	ENSP00000287008:p.Ala1226Pro		Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	hg19	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	C	7.872	0.728354	0.15507	.	.	ENSG00000156453	ENST00000287008	T	0.53640	0.61	3.89	3.89	0.44902	.	.	.	.	.	T	0.28863	0.0716	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.08554	-1.0716	9	0.34782	T	0.22	.	9.8085	0.40808	0.0:0.7904:0.2096:0.0	.	1226	Q08174-2	.	P	1226	ENSP00000287008:A1226P	ENSP00000287008:A1226P	A	-	1	0	PCDH1	141213829	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.372000	0.44257	2.457000	0.83068	0.462000	0.41574	GCA		0.667	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		G	141233645	C	G	141233645	3	3	297	1	0	0	0	0	1	0	0	0	11508	739	26	4	41	4	PCDH1	5	141233645	Missense_Mutation	SNP	C	TCGA-B9-4617-01A-01D-1252-08	70302571	141233645	39681615	17	17626											
SLIT3	6586	hgsc.bcm.edu	37	5	168135045	168135045	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr5:168135045delT	ENST00000519560.1	-	26	3199	c.2780delA	c.(2779-2781)aatfs	p.N928fs	SLIT3_ENST00000404867.3_Frame_Shift_Del_p.N928fs|CTC-558O2.1_ENST00000522615.1_RNA|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Frame_Shift_Del_p.N935fs	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	928	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCCCGTTATTCTTGCACGG	0.592																																					Ovarian(29;311 847 10864 17279 24903)											0													157	113	128					5																	168135045		2203	4300	6503	SO:0001589	frameshift_variant	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2780delA	chr5.hg19:g.168135045delT	ENSP00000430333:p.Asn928fs		A6H8U9|J3KNP3|O95804|Q9UFH5	Frame_Shift_Del	DEL	ENST00000519560.1	hg19	CCDS4369.1																																																																																				0.592	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		-	168135045	T	-	168135045	7	5	297	1	0	1	0	1	0	0	0	0	14747	1493	52	0	1835	0	SLIT3	5	168135045	Frame_Shift_Del	DEL	T	TCGA-B9-4617-01A-01D-1252-08	26901400	168135045	12780215	18	17627											
SNRNP48	154007	hgsc.bcm.edu	37	6	7601644	7601644	+	Missense_Mutation	SNP	G	G	C	rs143226311	byFrequency	TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr6:7601644G>C	ENST00000342415.5	+	5	541	c.482G>C	c.(481-483)cGt>cCt	p.R161P		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	161					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CAAGCTGATCGTCTTGCCCTC	0.368																																																0													116	112	114					6																	7601644		2203	4300	6503	SO:0001583	missense	154007			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.482G>C	chr6.hg19:g.7601644G>C	ENSP00000339834:p.Arg161Pro		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	hg19	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334843	0.81801	.	.	ENSG00000168566	ENST00000342415	T	0.50548	0.74	5.95	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.62962	0.2471	M	0.82323	2.585	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	T	0.70916	-0.4742	10	0.87932	D	0	-15.5175	12.6775	0.56903	0.0793:0.0:0.9207:0.0	.	161	Q6IEG0	SNR48_HUMAN	P	161	ENSP00000339834:R161P	ENSP00000339834:R161P	R	+	2	0	SNRNP48	7546643	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	8.383000	0.90157	1.520000	0.48965	0.491000	0.48974	CGT		0.368	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		C	7601644	G	C	7601644	3	2	297	1	0	0	0	0	1	0	0	0	14863	1145	40	4	500	4	SNRNP48	6	7601644	Missense_Mutation	SNP	G	TCGA-B9-4617-01A-01D-1252-08		7601644	163513423	19	17628											
OR2B3	442184	hgsc.bcm.edu	37	6	29054989	29054989	+	Missense_Mutation	SNP	T	T	G	rs139090624		TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr6:29054989T>G	ENST00000377173.2	-	1	101	c.37A>C	c.(37-39)Ata>Cta	p.I13L		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCAAGTAGTATAAACTCTTTT	0.373																																																0													67	67	67					6																	29054989		2203	4300	6503	SO:0001583	missense	442184				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"GPCR / Class A : Olfactory receptors"	8238	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 3 pseudogene"	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.37A>C	chr6.hg19:g.29054989T>G	ENSP00000366378:p.Ile13Leu		B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	hg19	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	T	5.503	0.277866	0.10403	.	.	ENSG00000204703	ENST00000377173	T	0.00873	5.59	3.37	2.19	0.27852	.	0.523945	0.15199	U	0.275147	T	0.00412	0.0013	L	0.50993	1.605	0.09310	N	1	B	0.22003	0.063	B	0.23716	0.048	T	0.46775	-0.9167	10	0.42905	T	0.14	.	5.2242	0.15385	0.0:0.104:0.3105:0.5855	.	13	O76000	OR2B3_HUMAN	L	13	ENSP00000366378:I13L	ENSP00000366378:I13L	I	-	1	0	OR2B3	29162968	0.045000	0.20229	0.611000	0.29010	0.205000	0.24178	-0.114000	0.10757	0.370000	0.24538	-0.396000	0.06452	ATA		0.373	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			G	29054989	T	G	29054989	3	3	297	1	0	0	0	0	1	0	0	0	10992	1406	49	5	908	5	OR2B3	6	29054989	Missense_Mutation	SNP	T	TCGA-B9-4617-01A-01D-1252-08	21453345	29054989	142060078	20	17629											
CDK13	8621	hgsc.bcm.edu	37	7	40127807	40127807	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr7:40127807T>C	ENST00000181839.4	+	12	3717	c.3112T>C	c.(3112-3114)Tcc>Ccc	p.S1038P	CDK13_ENST00000340829.5_Missense_Mutation_p.S1038P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1038					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TGATGATGTTTCCACAATTAA	0.453																																																0													90	87	88					7																	40127807		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3112T>C	chr7.hg19:g.40127807T>C	ENSP00000181839:p.Ser1038Pro		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	hg19	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	T	8.629	0.893231	0.17613	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.34472	1.36;1.36	5.56	5.56	0.83823	.	.	.	.	.	T	0.21347	0.0514	N	0.04090	-0.28	0.28827	N	0.897359	P;B	0.41265	0.744;0.069	B;B	0.44044	0.439;0.014	T	0.05162	-1.0902	8	.	.	.	-7.2605	9.3088	0.37891	0.2509:0.0:0.0:0.7491	.	1038;1038	Q14004-2;Q14004	.;CDK13_HUMAN	P	1038	ENSP00000181839:S1038P;ENSP00000340557:S1038P	.	S	+	1	0	CDK13	40094332	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	3.739000	0.55075	2.250000	0.74265	0.477000	0.44152	TCC		0.453	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		C	40127807	T	C	40127807	3	2	297	1	0	0	0	0	1	0	0	0	3131	1783	62	3	3158	3	CDK13	7	40127807	Missense_Mutation	SNP	T	TCGA-B9-4617-01A-01D-1252-08		40127807	119010856	21	17630											
CUX1	1523	hgsc.bcm.edu	37	7	101837159	101837159	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr7:101837159G>A	ENST00000292535.7	+	13	1152	c.1114G>A	c.(1114-1116)Gct>Act	p.A372T	CUX1_ENST00000547394.2_Missense_Mutation_p.A367T|CUX1_ENST00000425244.2_Missense_Mutation_p.A337T|CUX1_ENST00000556210.1_Missense_Mutation_p.A372T|CUX1_ENST00000292538.4_Missense_Mutation_p.A383T|CUX1_ENST00000393824.3_Missense_Mutation_p.A344T|CUX1_ENST00000550008.2_Missense_Mutation_p.A372T|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000437600.4_Missense_Mutation_p.A381T|CUX1_ENST00000360264.3_Missense_Mutation_p.A383T|CUX1_ENST00000549414.2_Missense_Mutation_p.A372T|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.A372T	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	372					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTCCGAGGGCGCTGGGACACA	0.517																																																0													81	68	73					7																	101837159		2203	4300	6503	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1114G>A	chr7.hg19:g.101837159G>A	ENSP00000292535:p.Ala372Thr		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	hg19	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161274	0.57368	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.60797	1.36;1.36;0.17;1.35;1.36;0.17;0.18;0.18;0.16;0.16	5.71	3.92	0.45320	.	0.260144	0.32918	N	0.005499	T	0.28433	0.0703	N	0.04018	-0.295	0.45318	D	0.998318	B;B;B;B;B;B;B	0.32071	0.021;0.004;0.01;0.355;0.017;0.103;0.007	B;B;B;B;B;B;B	0.24006	0.004;0.001;0.005;0.05;0.007;0.017;0.004	T	0.08534	-1.0717	10	0.42905	T	0.14	-7.0079	5.9431	0.19203	0.1559:0.0:0.5972:0.2469	.	344;372;337;367;381;383;383	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	T	383;367;383;337;381;372;372;372;372;372	ENSP00000292538:A383T;ENSP00000449371:A367T;ENSP00000353401:A383T;ENSP00000409745:A337T;ENSP00000414091:A381T;ENSP00000292535:A372T;ENSP00000446630:A372T;ENSP00000447373:A372T;ENSP00000450125:A372T;ENSP00000451558:A372T	ENSP00000292535:A372T	A	+	1	0	CUX1	101623879	0.969000	0.33509	0.996000	0.52242	0.920000	0.55202	1.299000	0.33424	0.775000	0.33450	0.561000	0.74099	GCT		0.517	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		A	101837159	G	A	101837159	3	1	297	1	0	0	0	0	1	0	0	0	4066	1087	38	1	1231	1	CUX1	7	101837159	Missense_Mutation	SNP	G	TCGA-B9-4617-01A-01D-1252-08	61709352	101837159	57301504	22	17631											
SLC13A1	6561	hgsc.bcm.edu	37	7	122774491	122774491	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr7:122774491C>G	ENST00000194130.2	-	8	944	c.905G>C	c.(904-906)tGg>tCg	p.W302S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	302					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CCACTGAAGCCAGATCCAGGA	0.418																																																0													126	107	114					7																	122774491		2203	4300	6503	SO:0001583	missense	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.905G>C	chr7.hg19:g.122774491C>G	ENSP00000194130:p.Trp302Ser		Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	hg19	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154544	0.78114	.	.	ENSG00000081800	ENST00000194130	T	0.02974	4.09	6.04	6.04	0.98038	.	0.106696	0.64402	D	0.000001	T	0.17109	0.0411	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.00002	-1.2618	10	0.72032	D	0.01	-10.0465	18.0887	0.89466	0.0:1.0:0.0:0.0	.	302;302	A4D0X1;Q9BZW2	.;S13A1_HUMAN	S	302	ENSP00000194130:W302S	ENSP00000194130:W302S	W	-	2	0	SLC13A1	122561727	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.962000	0.70364	2.873000	0.98535	0.563000	0.77884	TGG		0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		G	122774491	C	G	122774491	3	3	297	1	0	0	0	0	1	0	0	0	14397	595	21	4	914	4	SLC13A1	7	122774491	Missense_Mutation	SNP	C	TCGA-B9-4617-01A-01D-1252-08	20937332	122774491	36364172	23	17632											
ALDOB	229	hgsc.bcm.edu	37	9	104190767	104190770	+	Frame_Shift_Del	DEL	TTTG	TTTG	-	rs387906225		TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	TTTG	TTTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr9:104190767_104190770delTTTG	ENST00000374855.4	-	4	484_487	c.360_363delCAAA	c.(358-363)aacaaafs	p.NK120fs	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	120			Missing (in HFI). {ECO:0000269|PubMed:15532022}.		carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGGTGGTTTCTTTGTTTGTTCCTG	0.402																																																0			GRCh37	CD900270	ALDOB	D				0,4264		0,0,2132						5.9	1			251	1,8253		0,1,4126	no	frameshift	ALDOB	NM_000035.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.360_363delCAAA	chr9.hg19:g.104190771_104190774delTTTG	ENSP00000363988:p.Asn120fs		Q13741|Q13742|Q5T7D6	Frame_Shift_Del	DEL	ENST00000374855.4	hg19	CCDS6756.1																																																																																				0.402	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			-	104190770	TTTG	-	104190767	7	5	297	1	0	1	0	1	0	0	0	0	508	1606	56	0	755	0	ALDOB	9	104190767	Frame_Shift_Del	DEL	TTTG	TCGA-B9-4617-01A-01D-1252-08		104190767	37022664	24	17633											
MYST4	23522	hgsc.bcm.edu	37	10	76602897	76602897	+	Silent	SNP	G	G	T	rs569038847	byFrequency	TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr10:76602897G>T	ENST00000287239.4	+	3	771	c.282G>T	c.(280-282)ggG>ggT	p.G94G	KAT6B_ENST00000372724.1_Silent_p.G94G|KAT6B_ENST00000372711.1_Silent_p.G94G|KAT6B_ENST00000372725.1_Silent_p.G94G|KAT6B_ENST00000372714.1_Silent_p.G94G	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	94					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CAGCCAAGGGGTCTAGAGGAT	0.473																																																0													110	115	114					10																	76602897		2203	4300	6503	SO:0001819	synonymous_variant	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.282G>T	chr10.hg19:g.76602897G>T			O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	hg19	CCDS7345.1																																																																																				0.473	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		T	76602897	G	T	76602897	2	4	297	1	0	0	0	0	0	0	0	1	10107	1248	44	4		4	MYST4	10	76602897	Silent	SNP	G	TCGA-B9-4617-01A-01D-1252-08		76602897	58931850	25	17634											
LRP4	4038	hgsc.bcm.edu	37	11	46897384	46897384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:46897384G>A	ENST00000378623.1	-	26	3912	c.3670C>T	c.(3670-3672)Caa>Taa	p.Q1224*	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1224					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATAGCAGTTGGGAGCTGGCC	0.602																																																0													117	87	97					11																	46897384		2201	4299	6500	SO:0001587	stop_gained	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3670C>T	chr11.hg19:g.46897384G>A	ENSP00000367888:p.Gln1224*		B2RN39|Q4AC85|Q5KTZ5	Nonsense_Mutation	SNP	ENST00000378623.1	hg19	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	43	10.368400	0.99392	.	.	ENSG00000134569	ENST00000378623	.	.	.	5.71	5.71	0.89125	.	0.058544	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.8574	0.96764	0.0:0.0:1.0:0.0	.	.	.	.	X	1224	.	ENSP00000367888:Q1224X	Q	-	1	0	LRP4	46853960	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.670000	0.83925	2.704000	0.92352	0.555000	0.69702	CAA		0.602	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46897384	G	A	46897384	4	1	297	1	0	0	0	0	0	1	0	0	8961	1357	47	2	2099	2	LRP4	11	46897384	Nonsense_Mutation	SNP	G	TCGA-B9-4617-01A-01D-1252-08		46897384	88109132	26	17635											
OR5I1	10798	hgsc.bcm.edu	37	11	55703836	55703836	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:55703836A>T	ENST00000301532.3	-	1	40	c.41T>A	c.(40-42)tTt>tAt	p.F14Y		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	14					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAATAGAATAAACTCAGTGAC	0.358																																																0													50	49	49					11																	55703836		2201	4293	6494	SO:0001583	missense	10798			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.41T>A	chr11.hg19:g.55703836A>T	ENSP00000301532:p.Phe14Tyr		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	hg19	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246108	0.59103	.	.	ENSG00000167825	ENST00000301532	T	0.04360	3.64	5.05	5.05	0.67936	.	0.000000	0.48767	D	0.000175	T	0.27027	0.0662	M	0.92412	3.305	0.35686	D	0.814491	D	0.63880	0.993	D	0.67548	0.952	T	0.50566	-0.8813	10	0.72032	D	0.01	.	13.0502	0.58950	1.0:0.0:0.0:0.0	.	14	Q13606	OR5I1_HUMAN	Y	14	ENSP00000301532:F14Y	ENSP00000301532:F14Y	F	-	2	0	OR5I1	55460412	1.000000	0.71417	0.960000	0.40013	0.238000	0.25445	8.249000	0.89833	2.020000	0.59435	0.519000	0.50382	TTT		0.358	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		T	55703836	A	T	55703836	3	4	297	1	0	0	0	0	1	0	0	0	11166	14	1	5	906	5	OR5I1	11	55703836	Missense_Mutation	SNP	A	TCGA-B9-4617-01A-01D-1252-08	8806452	55703836	79302680	27	17636											
RBM4	5936	hgsc.bcm.edu	37	11	66411450	66411450	+	Silent	SNP	T	T	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:66411450T>A	ENST00000409406.1	+	2	1719	c.942T>A	c.(940-942)gcT>gcA	p.A314A	RBM14-RBM4_ENST00000412278.2_Silent_p.A289A|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000408993.2_Silent_p.A314A|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_Silent_p.A314A|RBM4_ENST00000514361.3_Silent_p.A289A|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Silent_p.A314A|RBM4_ENST00000396053.4_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	314	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TGCGTCGCGCTACAGCCCCAG	0.617																																																0													47	52	50					11																	66411450		2091	4236	6327	SO:0001819	synonymous_variant	5936			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.942T>A	chr11.hg19:g.66411450T>A			B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	hg19	CCDS41676.1																																																																																				0.617	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		A	66411450	T	A	66411450	2	1	297	1	0	0	0	0	0	0	0	1	13140	1509	53	5		5	RBM4	11	66411450	Silent	SNP	T	TCGA-B9-4617-01A-01D-1252-08	10707614	66411450	68595066	28	17637											
PCF11	51585	hgsc.bcm.edu	37	11	82877725	82877725	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:82877725A>G	ENST00000298281.4	+	5	2238	c.1786A>G	c.(1786-1788)Aga>Gga	p.R596G		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	596					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.R695R(1)|p.R596R(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTCTGCCAAAAGATGGAAATC	0.348																																																2	Substitution - coding silent(2)	urinary_tract(2)											73	75	74					11																	82877725		1759	3852	5611	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1786A>G	chr11.hg19:g.82877725A>G	ENSP00000298281:p.Arg596Gly		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844048	0.51164	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.68903	0.49;-0.36;-0.17	6.07	-0.732	0.11147	.	0.000000	0.64402	D	0.000005	T	0.71099	0.3300	L	0.34521	1.04	0.41136	D	0.985927	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.67280	-0.5710	9	.	.	.	.	17.6867	0.88258	0.3868:0.6132:0.0:0.0	.	596;596	E9PQ01;O94913	.;PCF11_HUMAN	G	596	ENSP00000298281:R596G;ENSP00000434540:R596G;ENSP00000431567:R596G	.	R	+	1	2	PCF11	82555373	0.996000	0.38824	0.972000	0.41901	0.993000	0.82548	0.572000	0.23684	-0.360000	0.08138	-0.316000	0.08728	AGA		0.348	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82877725	A	G	82877725	3	3	297	1	0	0	0	0	1	0	0	0	11575	64	3	3	1804	3	PCF11	11	82877725	Missense_Mutation	SNP	A	TCGA-B9-4617-01A-01D-1252-08	16466275	82877725	52128791	29	17638											
C11orf65	160140	hgsc.bcm.edu	37	11	108276173	108276173	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr11:108276173T>C	ENST00000529391.1	-	5	552	c.543A>G	c.(541-543)atA>atG	p.I181M	C11orf65_ENST00000525729.1_Missense_Mutation_p.I132M|C11orf65_ENST00000393084.1_Missense_Mutation_p.I181M|C11orf65_ENST00000526725.1_5'UTR			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	181										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TCATCCACTCTATTTTTCTAA	0.338																																																0													126	123	124					11																	108276173		2200	4298	6498	SO:0001583	missense	160140			BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.543A>G	chr11.hg19:g.108276173T>C	ENSP00000436400:p.Ile181Met		B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	hg19	CCDS8340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.26|15.26	2.780994|2.780994	0.49891|0.49891	.|.	.|.	ENSG00000166323|ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583|ENST00000524755	T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34|.	5.18|5.18	2.62|2.62	0.31277|0.31277	.|.	0.055200|.	0.64402|.	D|.	0.000002|.	T|.	0.50051|.	0.1593|.	M|M	0.68593|0.68593	2.085|2.085	0.31954|0.31954	N|N	0.609249|0.609249	D;D|.	0.67145|.	0.971;0.996|.	P;D|.	0.67548|.	0.839;0.952|.	T|.	0.56619|.	-0.7949|.	10|.	0.62326|.	D|.	0.03|.	-23.4088|-23.4088	5.4186|5.4186	0.16388|0.16388	0.3028:0.0:0.1462:0.551|0.3028:0.0:0.1462:0.551	.|.	132;181|.	B4DZU4;Q8NCR3|.	.;CK065_HUMAN|.	M|W	132;181;181;163|13	ENSP00000433395:I132M;ENSP00000436400:I181M;ENSP00000376799:I181M;ENSP00000434500:I163M|.	ENSP00000376799:I181M|.	I|X	-|-	3|2	3|0	C11orf65|C11orf65	107781383|107781383	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.888000|0.888000	0.28268|0.28268	0.865000|0.865000	0.35603|0.35603	0.460000|0.460000	0.39030|0.39030	ATA|TAG		0.338	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		C	108276173	T	C	108276173	3	2	297	1	0	0	0	0	1	0	0	0	1657	1512	53	3	414	3	C11orf65	11	108276173	Missense_Mutation	SNP	T	TCGA-B9-4617-01A-01D-1252-08	25398448	108276173	26730343	30	17639											
PRH1	5554	hgsc.bcm.edu	37	12	11035282	11035282	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr12:11035282T>A	ENST00000428168.2	-	3	153	c.116A>T	c.(115-117)gAg>gTg	p.E39V	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	39	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		TAGGAACTGCTCAGAGTCTCC	0.547																																																0													82	49	60					12																	11035282		2200	4286	6486	SO:0001583	missense	5554					12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.116A>T	chr12.hg19:g.11035282T>A	ENSP00000412436:p.Glu39Val		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000428168.2	hg19		.	.	.	.	.	.	.	.	.	.	T	9.894	1.205135	0.22205	.	.	ENSG00000231887	ENST00000428168	T	0.15487	2.42	1.5	-1.61	0.08399	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30475	-0.9977	6	0.59425	D	0.04	.	4.6309	0.12500	0.0:0.3995:0.0:0.6005	.	.	.	.	V	39	ENSP00000412436:E39V	ENSP00000412436:E39V	E	-	2	0	PRH1	10926549	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.486000	0.02312	-0.466000	0.06943	0.459000	0.35465	GAG		0.547	PRH1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006250		A	11035282	T	A	11035282	3	1	297	1	0	0	0	0	1	0	0	0	12487	1551	54	5	392	5	PRH1	12	11035282	Missense_Mutation	SNP	T	TCGA-B9-4617-01A-01D-1252-08		11035282	122816613	31	17640											
LRP6	4040	hgsc.bcm.edu	37	12	12317326	12317326	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr12:12317326T>G	ENST00000261349.4	-	9	2009	c.1933A>C	c.(1933-1935)Att>Ctt	p.I645L	LRP6_ENST00000543091.1_Missense_Mutation_p.I645L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	645	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCAGAGAAATTCGTCTGATA	0.418																																																0													105	104	104					12																	12317326		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1933A>C	chr12.hg19:g.12317326T>G	ENSP00000261349:p.Ile645Leu		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	hg19	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672125	0.88348	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91180	-2.8;-2.8	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000008	D	0.94228	0.8147	L	0.60455	1.87	0.80722	D	1	P;B	0.40066	0.701;0.236	D;P	0.64877	0.93;0.578	D	0.92901	0.6339	10	0.33940	T	0.23	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	645;645	F5H7J9;O75581	.;LRP6_HUMAN	L	645	ENSP00000261349:I645L;ENSP00000442472:I645L	ENSP00000261349:I645L	I	-	1	0	LRP6	12208593	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.222000	0.72249	2.279000	0.76181	0.533000	0.62120	ATT		0.418	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			G	12317326	T	G	12317326	3	3	297	1	0	0	0	0	1	0	0	0	8964	1493	52	5	2968	5	LRP6	12	12317326	Missense_Mutation	SNP	T	TCGA-B9-4617-01A-01D-1252-08	1282044	12317326	121534569	32	17641											
KRT85	3891	hgsc.bcm.edu	37	12	52756665	52756665	+	Silent	SNP	C	C	G	rs1621938	byFrequency	TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr12:52756665C>G	ENST00000257901.3	-	6	1125	c.1050G>C	c.(1048-1050)acG>acC	p.T350T	KRT85_ENST00000544265.1_Silent_p.T138T	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	350	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAATCTCGGCCGTCAGCCTCT	0.587																																																0													147	120	129					12																	52756665		2203	4300	6503	SO:0001819	synonymous_variant	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1050G>C	chr12.hg19:g.52756665C>G			Q9NSB1	Silent	SNP	ENST00000257901.3	hg19	CCDS8824.1																																																																																				0.587	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		G	52756665	C	G	52756665	2	3	297	1	0	0	0	0	0	0	0	1	8501	639	23	4		4	KRT85	12	52756665	Silent	SNP	C	TCGA-B9-4617-01A-01D-1252-08	40439339	52756665	81095230	33	17642											
DDX55	57696	hgsc.bcm.edu	37	12	124093348	124093348	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr12:124093348A>T	ENST00000238146.4	+	6	573	c.523A>T	c.(523-525)Aga>Tga	p.R175*	DDX55_ENST00000538744.1_Nonsense_Mutation_p.R175*	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	175	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TGAGGCAGACAGACTTCTGGA	0.537																																																0													140	127	132					12																	124093348		2203	4300	6503	SO:0001587	stop_gained	57696			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.523A>T	chr12.hg19:g.124093348A>T	ENSP00000238146:p.Arg175*		Q658L6|Q8IYH0|Q9HCH7	Nonsense_Mutation	SNP	ENST00000238146.4	hg19	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529924	0.85706	.	.	ENSG00000111364	ENST00000238146;ENST00000538449;ENST00000538744	.	.	.	5.56	0.428	0.16499	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.4688	10.2464	0.43343	0.5084:0.4032:0.0:0.0884	.	.	.	.	X	175	.	ENSP00000238146:R175X	R	+	1	2	DDX55	122659301	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.558000	0.36309	0.084000	0.17077	0.460000	0.39030	AGA		0.537	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			T	124093348	A	T	124093348	4	4	297	1	0	0	0	0	0	1	0	0	4375	180	7	5	545	5	DDX55	12	124093348	Nonsense_Mutation	SNP	A	TCGA-B9-4617-01A-01D-1252-08	71336683	124093348	9758547	34	17643											
FLJ10357	55701	hgsc.bcm.edu	37	14	21546590	21546590	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr14:21546590C>G	ENST00000298694.4	+	10	2316	c.2189C>G	c.(2188-2190)gCa>gGa	p.A730G	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A730G			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	730						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CGGCTGACGGCACTGCAGAGG	0.632																																																0													58	61	60					14																	21546590		2203	4300	6503	SO:0001583	missense	55701				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2189C>G	chr14.hg19:g.21546590C>G	ENSP00000298694:p.Ala730Gly		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	hg19	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.587748	0.28268	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02323	4.4;4.34	4.47	-0.131	0.13494	.	0.432236	0.19670	N	0.108771	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B;B	0.22541	0.058;0.071	B;B	0.24155	0.051;0.048	T	0.47736	-0.9094	10	0.20046	T	0.44	.	3.5884	0.07979	0.4355:0.3333:0.0:0.2312	.	730;730	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	G	730	ENSP00000298694:A730G;ENSP00000298693:A730G	ENSP00000298693:A730G	A	+	2	0	ARHGEF40	20616430	0.001000	0.12720	0.020000	0.16555	0.990000	0.78478	0.130000	0.15850	0.110000	0.17919	0.462000	0.41574	GCA		0.632	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			G	21546590	C	G	21546590	3	3	297	1	0	0	0	0	1	0	0	0	5928	710	25	4	2227	4	FLJ10357	14	21546590	Missense_Mutation	SNP	C	TCGA-B9-4617-01A-01D-1252-08		21546590	85802950	35	17644											
ACIN1	22985	hgsc.bcm.edu	37	14	23564436	23564436	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr14:23564436A>C	ENST00000262710.1	-	1	387	c.60T>G	c.(58-60)aaT>aaG	p.N20K	ACIN1_ENST00000457657.1_Missense_Mutation_p.N20K|ACIN1_ENST00000605057.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.N20K|C14orf119_ENST00000554203.1_5'Flank|C14orf119_ENST00000319074.4_5'UTR	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	20					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTACCCCTCGATTACCACTCA	0.592																																																0													98	98	98					14																	23564436		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.60T>G	chr14.hg19:g.23564436A>C	ENSP00000262710:p.Asn20Lys		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	hg19	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814723	0.70912	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.19806	2.36;2.12;2.36	5.45	4.3	0.51218	.	0.000000	0.38548	N	0.001657	T	0.15782	0.0380	N	0.08118	0	0.80722	D	1	P;P	0.48162	0.906;0.849	P;B	0.49192	0.602;0.398	T	0.04165	-1.0972	10	0.87932	D	0	-12.5512	10.7996	0.46480	0.8313:0.1687:0.0:0.0	.	20;20	G3V3M7;Q9UKV3	.;ACINU_HUMAN	K	20	ENSP00000262710:N20K;ENSP00000405677:N20K;ENSP00000451328:N20K	ENSP00000262710:N20K	N	-	3	2	ACIN1	22634276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.665000	0.25083	2.288000	0.76882	0.482000	0.46254	AAT		0.592	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		C	23564436	A	C	23564436	3	2	297	1	0	0	0	0	1	0	0	0	142	330	12	5	4188	5	ACIN1	14	23564436	Missense_Mutation	SNP	A	TCGA-B9-4617-01A-01D-1252-08	2017846	23564436	83785104	36	17645											
REC8	79711	hgsc.bcm.edu	37	14	24648037	24648037	+	IGR	SNP	C	C	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr14:24648037C>T	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_Missense_Mutation_p.P372L|REC8_ENST00000559919.1_Missense_Mutation_p.P372L	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCCCAGCCACCCCCAAAAGCC	0.587																																																0													146	162	157					14																	24648037		1917	4120	6037	SO:0001628	intergenic_variant	9985			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		chr14.hg19:g.24648037C>T			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	hg19	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436138	0.62955	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.25085	1.82	5.18	4.29	0.51040	.	0.233366	0.37348	N	0.002138	T	0.19248	0.0462	L	0.34521	1.04	0.35201	D	0.774243	B;B	0.20887	0.049;0.029	B;B	0.20577	0.03;0.013	T	0.15178	-1.0446	10	0.40728	T	0.16	-11.8468	9.8882	0.41274	0.0:0.9069:0.0:0.0931	.	356;373	O95072-2;O95072	.;REC8_HUMAN	L	372;355	ENSP00000308699:P372L	ENSP00000308699:P372L	P	+	2	0	REC8	23717877	0.253000	0.23982	0.233000	0.24025	0.042000	0.13812	1.235000	0.32671	1.403000	0.46800	0.462000	0.41574	CCC		0.587	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		T	24648037	C	T	24648037	1	4	297	0	1	0	0	0	0	0	0	0	13205	623	22	2		2	REC8	14	24648037	IGR	SNP	C	TCGA-B9-4617-01A-01D-1252-08	1083601	24648037	82701503	37	17646											
AKAP6	9472	hgsc.bcm.edu	37	14	33291241	33291241	+	Missense_Mutation	SNP	G	G	A	rs376840822		TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr14:33291241G>A	ENST00000280979.4	+	13	4392	c.4222G>A	c.(4222-4224)Gtg>Atg	p.V1408M	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1408					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGCAGTTAACGTGTTAAAGCA	0.438																																					Melanoma(49;821 1200 7288 13647 42351)											0													72	70	71					14																	33291241		2203	4300	6503	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4222G>A	chr14.hg19:g.33291241G>A	ENSP00000280979:p.Val1408Met		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	4.459	0.084949	0.08583	.	.	ENSG00000151320	ENST00000280979	T	0.07327	3.2	5.6	-2.53	0.06326	.	1.038410	0.07611	N	0.925352	T	0.06645	0.0170	L	0.27053	0.805	0.09310	N	1	B	0.23735	0.09	B	0.15870	0.014	T	0.39440	-0.9614	10	0.45353	T	0.12	0.19	11.7736	0.51972	0.494:0.0:0.506:0.0	.	1408	Q13023	AKAP6_HUMAN	M	1408	ENSP00000280979:V1408M	ENSP00000280979:V1408M	V	+	1	0	AKAP6	32360992	0.022000	0.18835	0.000000	0.03702	0.813000	0.45954	0.177000	0.16801	-0.393000	0.07739	-0.253000	0.11424	GTG		0.438	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		A	33291241	G	A	33291241	3	1	297	1	0	0	0	0	1	0	0	0	455	1145	40	1	4268	1	AKAP6	14	33291241	Missense_Mutation	SNP	G	TCGA-B9-4617-01A-01D-1252-08	8643204	33291241	74058299	38	17647											
ZC3H7A	29066	hgsc.bcm.edu	37	16	11859408	11859408	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr16:11859408C>A	ENST00000396516.2	-	13	1853	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.K552N			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	552						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TAAGGTTAATCTTTCCATTGC	0.453																																																0													95	95	95					16																	11859408		2197	4300	6497	SO:0001583	missense	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1656G>T	chr16.hg19:g.11859408C>A	ENSP00000379773:p.Lys552Asn		D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	hg19	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052633	0.36181	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.11063	2.81;2.81	5.81	4.85	0.62838	.	0.088461	0.85682	D	0.000000	T	0.11665	0.0284	L	0.49126	1.545	0.80722	D	1	B;B	0.19445	0.036;0.001	B;B	0.20577	0.03;0.003	T	0.02933	-1.1092	10	0.49607	T	0.09	.	10.5495	0.45079	0.0:0.8534:0.0:0.1466	.	273;552	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	N	552	ENSP00000347999:K552N;ENSP00000379773:K552N	ENSP00000347999:K552N	K	-	3	2	ZC3H7A	11766909	0.997000	0.39634	0.962000	0.40283	0.488000	0.33401	1.255000	0.32909	2.736000	0.93811	0.655000	0.94253	AAG		0.453	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		A	11859408	C	A	11859408	3	1	297	1	0	0	0	0	1	0	0	0	17577	912	32	4	1299	4	ZC3H7A	16	11859408	Missense_Mutation	SNP	C	TCGA-B9-4617-01A-01D-1252-08		11859408	78495345	39	17648											
ABCC12	94160	hgsc.bcm.edu	37	16	48173154	48173154	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr16:48173154A>G	ENST00000311303.3	-	5	1096	c.751T>C	c.(751-753)Tgt>Cgt	p.C251R	ABCC12_ENST00000448542.1_Missense_Mutation_p.C251R|ABCC12_ENST00000416054.1_Missense_Mutation_p.C251R	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	251	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TACGCCGCACAAAAGACCATT	0.483																																																0													122	111	115					16																	48173154		2201	4300	6501	SO:0001583	missense	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.751T>C	chr16.hg19:g.48173154A>G	ENSP00000311030:p.Cys251Arg		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	hg19	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.376652	0.42105	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000416054	D;D;D	0.90004	-2.6;-2.6;-2.6	5.88	5.88	0.94601	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93161	0.7822	M	0.71581	2.175	0.80722	D	1	D;P	0.76494	0.999;0.942	D;P	0.80764	0.994;0.82	D	0.93294	0.6671	10	0.59425	D	0.04	.	11.3056	0.49334	0.8477:0.1522:0.0:0.0	.	251;251	Q96J65-2;Q96J65	.;MRP9_HUMAN	R	251	ENSP00000311030:C251R;ENSP00000401855:C251R;ENSP00000413046:C251R	ENSP00000311030:C251R	C	-	1	0	ABCC12	46730655	0.999000	0.42202	0.890000	0.34922	0.048000	0.14542	4.352000	0.59404	2.239000	0.73571	0.533000	0.62120	TGT		0.483	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		G	48173154	A	G	48173154	3	3	297	1	0	0	0	0	1	0	0	0	52	130	5	3	3428	3	ABCC12	16	48173154	Missense_Mutation	SNP	A	TCGA-B9-4617-01A-01D-1252-08	36313746	48173154	42181599	40	17649											
LRRC50	123872	hgsc.bcm.edu	37	16	84203896	84203896	+	Missense_Mutation	SNP	C	C	G	rs375641621		TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr16:84203896C>G	ENST00000378553.5	+	8	1586	c.1462C>G	c.(1462-1464)Cga>Gga	p.R488G	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	488	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGATGGAGATCGAGAGCCAGA	0.597																																																0													41	40	40					16																	84203896		2200	4300	6500	SO:0001583	missense	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1462C>G	chr16.hg19:g.84203896C>G	ENSP00000367815:p.Arg488Gly		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	hg19	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	1.384	-0.582571	0.03827	.	.	ENSG00000154099	ENST00000378553	T	0.26957	1.7	1.35	-0.756	0.11057	.	.	.	.	.	T	0.07683	0.0193	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38373	-0.9664	9	0.22109	T	0.4	.	7.0593	0.25117	0.0:0.4357:0.5643:0.0	.	252;488	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	G	488	ENSP00000367815:R488G	ENSP00000367815:R488G	R	+	1	2	DNAAF1	82761397	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.340000	0.19892	-0.207000	0.10187	-1.719000	0.00708	CGA		0.597	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		G	84203896	C	G	84203896	3	3	297	1	0	0	0	0	1	0	0	0	9011	876	31	4	1492	4	LRRC50	16	84203896	Missense_Mutation	SNP	C	TCGA-B9-4617-01A-01D-1252-08	36030742	84203896	6150857	41	17650											
RNMTL1	55178	hgsc.bcm.edu	37	17	694912	694912	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr17:694912A>T	ENST00000304478.4	+	4	972	c.866A>T	c.(865-867)aAc>aTc	p.N289I	RP11-676J12.8_ENST00000574560.1_RNA	NM_018146.2	NP_060616.1			RNA methyltransferase like 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GTGGCTGACAACTGTGGCCTT	0.498																																																0													115	105	108					17																	694912		2203	4300	6503	SO:0001583	missense	55178			AF177344	CCDS10997.1	17p13.3	2008-02-05			ENSG00000171861	ENSG00000171861			18485	protein-coding gene	gene with protein product		612600				12296377	Standard	NM_018146		Approved	FLJ10581, HC90	uc002frw.3	Q9HC36	OTTHUMG00000090285	ENST00000304478.4:c.866A>T	chr17.hg19:g.694912A>T	ENSP00000306080:p.Asn289Ile			Missense_Mutation	SNP	ENST00000304478.4	hg19	CCDS10997.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879315	0.72294	.	.	ENSG00000171861	ENST00000304478	T	0.28255	1.62	5.59	5.59	0.84812	tRNA/rRNA methyltransferase, SpoU (1);	0.131490	0.64402	D	0.000001	T	0.51839	0.1698	M	0.67625	2.065	0.58432	D	0.999999	D	0.71674	0.998	D	0.75484	0.986	T	0.45789	-0.9237	10	0.25106	T	0.35	-36.3731	14.5694	0.68202	1.0:0.0:0.0:0.0	.	289	Q9HC36	RMTL1_HUMAN	I	289	ENSP00000306080:N289I	ENSP00000306080:N289I	N	+	2	0	RNMTL1	641662	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.177000	0.50871	2.120000	0.65058	0.482000	0.46254	AAC		0.498	RNMTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206611.1	NM_018146		T	694912	A	T	694912	3	4	297	1	0	0	0	0	1	0	0	0	13513	43	2	5	880	5	RNMTL1	17	694912	Missense_Mutation	SNP	A	TCGA-B9-4617-01A-01D-1252-08		694912	80500298	42	17651											
NEURL4	84461	hgsc.bcm.edu	37	17	7230249	7230249	+	Silent	SNP	G	G	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr17:7230249G>A	ENST00000399464.2	-	4	888	c.873C>T	c.(871-873)aaC>aaT	p.N291N	NEURL4_ENST00000570460.1_Silent_p.N269N|NEURL4_ENST00000315614.7_Silent_p.N291N	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	291						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGAGCTCAGGTTCACATTCA	0.562																																																0													77	81	80					17																	7230249		2036	4185	6221	SO:0001819	synonymous_variant	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.873C>T	chr17.hg19:g.7230249G>A			Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	hg19	CCDS42251.1																																																																																				0.562	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		A	7230249	G	A	7230249	2	1	297	1	0	0	0	0	0	0	0	1	10349	1252	44	2		2	NEURL4	17	7230249	Silent	SNP	G	TCGA-B9-4617-01A-01D-1252-08	6535337	7230249	73964961	43	17652											
HLF	3131	hgsc.bcm.edu	37	17	53398135	53398135	+	Silent	SNP	G	G	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr17:53398135G>A	ENST00000226067.5	+	4	1256	c.783G>A	c.(781-783)gaG>gaA	p.E261E	HLF_ENST00000573945.1_Silent_p.E176E|HLF_ENST00000430986.2_Silent_p.E176E|HLF_ENST00000575307.1_3'UTR|HLF_ENST00000575345.1_Silent_p.E176E	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	261	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						CGTTCCTGGAGAAGGAGAACT	0.617			T	TCF3	ALL																																		Dom	yes		17	17q22	3131	hepatic leukemia factor		L	0													28	32	31					17																	53398135		2202	4298	6500	SO:0001819	synonymous_variant	3131				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.783G>A	chr17.hg19:g.53398135G>A			A8K1X8|Q6FHS9	Silent	SNP	ENST00000226067.5	hg19	CCDS11585.1																																																																																				0.617	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		A	53398135	G	A	53398135	2	1	297	1	0	0	0	0	0	0	0	1	7216	933	33	2		2	HLF	17	53398135	Silent	SNP	G	TCGA-B9-4617-01A-01D-1252-08	46167886	53398135	27797075	44	17653											
GNA13	10672	hgsc.bcm.edu	37	17	63049838	63049838	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr17:63049838C>A	ENST00000439174.2	-	2	537	c.292G>T	c.(292-294)Gtg>Ttg	p.V98L	RP11-583F2.5_ENST00000581796.1_RNA|GNA13_ENST00000541118.1_Missense_Mutation_p.V3L	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	98					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TCAACCAGCACCCTCATACCT	0.383																																																0													115	115	115					17																	63049838		2203	4300	6503	SO:0001583	missense	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.292G>T	chr17.hg19:g.63049838C>A	ENSP00000400717:p.Val98Leu		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	hg19	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149213	0.94645	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.87729	-2.29;-2.29	5.28	5.28	0.74379	G protein alpha subunit, helical insertion (2);	0.059604	0.64402	D	0.000003	D	0.86176	0.5870	L	0.59436	1.845	0.80722	D	1	P	0.36125	0.538	B	0.34590	0.186	D	0.87418	0.2380	10	0.87932	D	0	.	18.9394	0.92600	0.0:1.0:0.0:0.0	.	98	Q14344	GNA13_HUMAN	L	98;3;73	ENSP00000400717:V98L;ENSP00000439647:V3L	ENSP00000239138:V73L	V	-	1	0	GNA13	60480300	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.455000	0.83008	0.655000	0.94253	GTG		0.383	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		A	63049838	C	A	63049838	3	1	297	1	0	0	0	0	1	0	0	0	6503	507	18	4	853	4	GNA13	17	63049838	Missense_Mutation	SNP	C	TCGA-B9-4617-01A-01D-1252-08	9651703	63049838	18145372	45	17654											
KIAA0802	23255	hgsc.bcm.edu	37	18	8825493	8825493	+	Silent	SNP	T	T	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr18:8825493T>C	ENST00000306329.11	+	13	4942	c.4942T>C	c.(4942-4944)Ttg>Ctg	p.L1648L	SOGA2_ENST00000518815.1_Silent_p.L654L|SOGA2_ENST00000400050.3_Silent_p.L1288L|SOGA2_ENST00000306285.7_Silent_p.L654L|SOGA2_ENST00000359865.3_Silent_p.L1329L|SOGA2_ENST00000517570.1_Silent_p.L1288L																							CAGTGTGGGCTTGCAGACTGA	0.637																																																0													33	33	33					18																	8825493		2203	4300	6503	SO:0001819	synonymous_variant	23255																														ENST00000306329.11:c.4942T>C	chr18.hg19:g.8825493T>C				Silent	SNP	ENST00000306329.11	hg19																																																																																					0.637	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			C	8825493	T	C	8825493	2	2	297	1	0	0	0	0	0	0	0	1	8196	1606	56	3		3	KIAA0802	18	8825493	Silent	SNP	T	TCGA-B9-4617-01A-01D-1252-08		8825493	69251755	46	17655											
CSNK2A1	1457	hgsc.bcm.edu	37	20	467041	467041	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chr20:467041T>C	ENST00000217244.3	-	13	1414	c.1039A>G	c.(1039-1041)Agc>Ggc	p.S347G	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.S347G|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.S347G|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.S211G	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	347					axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTGGCGCTGCTGACGGGCGTA	0.428																																																0													87	84	85					20																	467041		2203	4300	6503	SO:0001583	missense	1457			M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.1039A>G	chr20.hg19:g.467041T>C	ENSP00000217244:p.Ser347Gly		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	hg19	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	t	16.92	3.254163	0.59212	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.63417	0.35;0.34;0.34;-0.04	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	N	0.19112	0.55	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.36939	-0.9727	10	0.27785	T	0.31	-15.3796	14.2224	0.65836	0.0:0.0:0.0:1.0	.	347	P68400	CSK21_HUMAN	G	347;347;347;347;211	ENSP00000383086:S347G;ENSP00000339247:S347G;ENSP00000217244:S347G;ENSP00000383076:S211G	ENSP00000217244:S347G	S	-	1	0	CSNK2A1	415041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.400000	0.79949	2.207000	0.71202	0.478000	0.44815	AGC		0.428	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		C	467041	T	C	467041	3	2	297	1	0	0	0	0	1	0	0	0	3959	1580	55	3	144	3	CSNK2A1	20	467041	Missense_Mutation	SNP	T	TCGA-B9-4617-01A-01D-1252-08		467041	62558479	47	17656											
MAGEB4	4115	hgsc.bcm.edu	37	X	30261219	30261219	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chrX:30261219G>T	ENST00000378982.2	+	1	1163	c.967G>T	c.(967-969)Gcc>Tcc	p.A323S	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	323										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CAGAGTTGCAGCCAGGCGTGG	0.522																																																0													48	44	45					X																	30261219		2202	4300	6502	SO:0001583	missense	4115				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.967G>T	chrX.hg19:g.30261219G>T	ENSP00000368266:p.Ala323Ser		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	hg19	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743265	0.30865	.	.	ENSG00000120289	ENST00000378982	T	0.01821	4.62	2.95	1.12	0.20585	.	1.311600	0.06398	U	0.718346	T	0.02888	0.0086	M	0.61703	1.905	0.09310	N	1	P	0.48834	0.916	B	0.42522	0.39	T	0.43032	-0.9416	10	0.51188	T	0.08	.	3.6067	0.08045	0.1562:0.2589:0.5849:0.0	.	323	O15481	MAGB4_HUMAN	S	323	ENSP00000368266:A323S	ENSP00000368266:A323S	A	+	1	0	MAGEB4	30171140	0.000000	0.05858	0.001000	0.08648	0.373000	0.29922	-0.156000	0.10100	0.167000	0.19631	0.600000	0.82982	GCC		0.522	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		T	30261219	G	T	30261219	3	4	297	1	0	0	0	0	1	0	0	0	9180	971	34	4	969	4	MAGEB4	23	30261219	Missense_Mutation	SNP	G	TCGA-B9-4617-01A-01D-1252-08		30261219	125009341	48	17657											
DMD	1756	hgsc.bcm.edu	37	X	32867885	32867885	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chrX:32867885C>T	ENST00000357033.4	-	3	352	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DMD_ENST00000288447.4_Missense_Mutation_p.R41H|snoU13_ENST00000459244.1_RNA|DMD_ENST00000378677.2_Missense_Mutation_p.R45H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	49	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.		Missing (in BMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCTAGGAGGCGCCTCCCATC	0.393																																																0													89	85	86					X																	32867885		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.146G>A	chrX.hg19:g.32867885C>T	ENSP00000354923:p.Arg49His		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	hg19	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580687	0.86748	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000288447;ENST00000447523	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	5.63	4.76	0.60689	Calponin homology domain (5);	0.490245	0.13997	U	0.348381	D	0.95856	0.8651	M	0.62266	1.93	0.80722	D	1	D;D;P;D	0.71674	0.998;0.994;0.884;0.995	P;P;B;P	0.61874	0.895;0.78;0.439;0.86	D	0.94777	0.7950	10	0.54805	T	0.06	.	11.8557	0.52435	0.0:0.9123:0.0:0.0877	.	41;41;49;45	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	H	41;45;49;49;41;12	ENSP00000367948:R45H;ENSP00000354923:R49H;ENSP00000288447:R41H;ENSP00000395904:R12H	ENSP00000288447:R41H	R	-	2	0	DMD	32777806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.592000	0.46171	2.346000	0.79739	0.600000	0.82982	CGC		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		T	32867885	C	T	32867885	3	4	297	1	0	0	0	0	1	0	0	0	4582	768	27	1	11462	1	DMD	23	32867885	Missense_Mutation	SNP	C	TCGA-B9-4617-01A-01D-1252-08	2606666	32867885	122402675	49	17658											
XPNPEP2	7512	hgsc.bcm.edu	37	X	128885748	128885749	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B9-4617-01A-01D-1252-08	TCGA-B9-4617-10A-01D-1252-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aed3977e-c899-4a95-b26a-957bdbd865a6	513c77a4-6151-4d55-9b91-4b9923b7d895	g.chrX:128885748_128885749delTC	ENST00000371106.3	+	9	959_960	c.767_768delTC	c.(766-768)atcfs	p.I256fs		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	256						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GCCAGTGACATCCCCTATAACC	0.441																																																0																																										SO:0001589	frameshift_variant	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.767_768delTC	chrX.hg19:g.128885748_128885749delTC	ENSP00000360147:p.Ile256fs		A0AV16|O75994	Frame_Shift_Del	DEL	ENST00000371106.3	hg19	CCDS14613.1																																																																																				0.441	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		-	128885749	TC	-	128885748	7	5	297	1	0	1	0	1	0	0	0	0	17448	1435	50	0	801	0	XPNPEP2	23	128885748	Frame_Shift_Del	DEL	TC	TCGA-B9-4617-01A-01D-1252-08	96017863	128885748	26384812	50	17659											
ARHGEF10L	55160	hgsc.bcm.edu	37	1	18023596	18023596	+	Silent	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:18023596G>A	ENST00000361221.3	+	29	3720	c.3561G>A	c.(3559-3561)ctG>ctA	p.L1187L	ARHGEF10L_ENST00000452522.1_Silent_p.L1148L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Silent_p.L960L|ARHGEF10L_ENST00000167825.4_Silent_p.L890L|ARHGEF10L_ENST00000375415.1_Silent_p.L1148L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1187						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGGGCCCGCTGCTCTCCATGC	0.677																																																0													13	14	14					1																	18023596		2189	4283	6472	SO:0001819	synonymous_variant	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3561G>A	chr1.hg19:g.18023596G>A			B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	hg19	CCDS182.1																																																																																				0.677	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		A	18023596	G	A	18023596	2	1	298	1	0	0	0	0	0	0	0	1	895	1306	46	2		2	ARHGEF10L	1	18023596	Silent	SNP	G	TCGA-B9-5155-01A-01D-1589-08		18023596	231227025	1	17660											
TMCO4	255104	hgsc.bcm.edu	37	1	20063898	20063898	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:20063898A>G	ENST00000294543.6	-	13	1472	c.1231T>C	c.(1231-1233)Tac>Cac	p.Y411H	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.Y371H|TMCO4_ENST00000375127.1_Missense_Mutation_p.Y411H	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	411						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGACAGAAGTAGATGACTCTG	0.512																																																0													122	116	118					1																	20063898		2203	4300	6503	SO:0001583	missense	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1231T>C	chr1.hg19:g.20063898A>G	ENSP00000294543:p.Tyr411His		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	hg19	CCDS198.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679476	0.88542	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.55588	0.51;0.51;0.51	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.70903	2.155	0.52501	D	0.999959	D	0.65815	0.995	D	0.73708	0.981	T	0.74124	-0.3766	10	0.87932	D	0	-10.3943	13.6373	0.62229	1.0:0.0:0.0:0.0	.	411	Q5TGY1	TMCO4_HUMAN	H	411;411;371	ENSP00000294543:Y411H;ENSP00000364269:Y411H;ENSP00000364264:Y371H	ENSP00000294543:Y411H	Y	-	1	0	TMCO4	19936485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.389000	0.90172	2.172000	0.68678	0.533000	0.62120	TAC		0.512	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		G	20063898	A	G	20063898	3	3	298	1	0	0	0	0	1	0	0	0	16003	420	15	3	689	3	TMCO4	1	20063898	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	2040302	20063898	229186723	2	17661											
TAL1	6886	hgsc.bcm.edu	37	1	47685450	47685450	+	Missense_Mutation	SNP	G	G	T	rs536520955	byFrequency	TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:47685450G>T	ENST00000294339.3	-	4	1514	c.938C>A	c.(937-939)aCg>aAg	p.T313K	TAL1_ENST00000371884.2_Missense_Mutation_p.T313K|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Missense_Mutation_p.T315K	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	313					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTGCGGGCCGTGTGTTTGGG	0.687			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic																																		Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0													24	29	27					1																	47685450		2193	4294	6487	SO:0001583	missense	6886			M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"Basic helix-loop-helix proteins"	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.938C>A	chr1.hg19:g.47685450G>T	ENSP00000294339:p.Thr313Lys		D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	hg19	CCDS547.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086069	0.55861	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.97404	-4.37;-4.37;-4.37	5.05	5.05	0.67936	.	0.348037	0.26518	N	0.023921	D	0.91583	0.7341	N	0.14661	0.345	0.30052	N	0.811637	P	0.38827	0.649	B	0.32090	0.14	D	0.89725	0.3922	10	0.39692	T	0.17	.	14.0701	0.64854	0.0:0.1508:0.8492:0.0	.	313	P17542	TAL1_HUMAN	K	313;315;313	ENSP00000360951:T313K;ENSP00000360950:T315K;ENSP00000294339:T313K	ENSP00000294339:T313K	T	-	2	0	TAL1	47458037	0.955000	0.32602	0.909000	0.35828	0.555000	0.35460	4.030000	0.57260	2.363000	0.80096	0.478000	0.44815	ACG		0.687	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		T	47685450	G	T	47685450	3	4	298	1	0	0	0	0	1	0	0	0	15546	1145	40	4	61	4	TAL1	1	47685450	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	27621552	47685450	201565171	3	17662											
SYDE2	84144	hgsc.bcm.edu	37	1	85656155	85656155	+	Silent	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:85656155T>C	ENST00000341460.5	-	2	1075	c.1026A>G	c.(1024-1026)gtA>gtG	p.V342V		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	342					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TAGCGTTACATACCACATATG	0.353																																																0													153	141	145					1																	85656155		1928	4133	6061	SO:0001819	synonymous_variant	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1026A>G	chr1.hg19:g.85656155T>C			Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	ENST00000341460.5	hg19	CCDS44169.1																																																																																				0.353	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			C	85656155	T	C	85656155	2	2	298	1	0	0	0	0	0	0	0	1	15441	1393	49	3		3	SYDE2	1	85656155	Silent	SNP	T	TCGA-B9-5155-01A-01D-1589-08	37970705	85656155	163594466	4	17663											
HS2ST1	9653	hgsc.bcm.edu	37	1	87569257	87569257	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:87569257G>A	ENST00000370550.5	+	6	1192	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.E251K|HS2ST1_ENST00000356813.4_Missense_Mutation_p.E251K	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	277					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		GGGTGCTACTGAACTCTATCG	0.363																																																0													102	102	102					1																	87569257		2203	4300	6503	SO:0001583	missense	9653			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"Sulfotransferases, membrane-bound"	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.829G>A	chr1.hg19:g.87569257G>A	ENSP00000359581:p.Glu277Lys		D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	hg19	CCDS711.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686327	0.68157	.	.	ENSG00000153936	ENST00000370550;ENST00000370548;ENST00000356813	T;T;T	0.73789	-0.78;-0.78;-0.78	5.55	5.55	0.83447	.	0.045925	0.85682	D	0.000000	T	0.44932	0.1317	N	0.13272	0.32	0.80722	D	1	B;B	0.20887	0.007;0.049	B;B	0.15484	0.013;0.011	T	0.47222	-0.9134	10	0.14252	T	0.57	-17.3525	19.5161	0.95165	0.0:0.0:1.0:0.0	.	277;251	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	K	277;251;251	ENSP00000359581:E277K;ENSP00000359579:E251K;ENSP00000349268:E251K	ENSP00000349268:E251K	E	+	1	0	HS2ST1	87341845	1.000000	0.71417	0.863000	0.33907	0.974000	0.67602	9.869000	0.99810	2.605000	0.88082	0.467000	0.42956	GAA		0.363	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		A	87569257	G	A	87569257	3	1	298	1	0	0	0	0	1	0	0	0	7364	1291	45	2	855	2	HS2ST1	1	87569257	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	1913102	87569257	161681364	5	17664											
LRRC8C	84230	hgsc.bcm.edu	37	1	90179254	90179254	+	Silent	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:90179254T>C	ENST00000370454.4	+	3	1380	c.1125T>C	c.(1123-1125)caT>caC	p.H375H	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	375					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTATGCTTCATATGATAGATC	0.373																																																0													52	53	52					1																	90179254		2203	4300	6503	SO:0001819	synonymous_variant	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1125T>C	chr1.hg19:g.90179254T>C			B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	hg19	CCDS725.1																																																																																				0.373	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		C	90179254	T	C	90179254	2	2	298	1	0	0	0	0	0	0	0	1	9025	1403	49	3		3	LRRC8C	1	90179254	Silent	SNP	T	TCGA-B9-5155-01A-01D-1589-08	2609997	90179254	159071367	6	17665											
BTBD8	284697	hgsc.bcm.edu	37	1	92612759	92612759	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:92612759C>G	ENST00000342818.3	+	8	1189	c.953C>G	c.(952-954)tCt>tGt	p.S318C	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	318						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ACATTGACGTCTATACTAGAA	0.323																																																0													172	167	168					1																	92612759		2203	4300	6503	SO:0001583	missense	284697			AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"BTB/POZ domain containing"	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.953C>G	chr1.hg19:g.92612759C>G	ENSP00000343686:p.Ser318Cys		Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	hg19	CCDS737.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533918	0.45073	.	.	ENSG00000189195	ENST00000342818	T	0.66099	-0.19	5.49	5.49	0.81192	.	0.352773	0.24511	N	0.037898	T	0.58104	0.2099	L	0.43152	1.355	0.80722	D	1	D	0.57257	0.979	P	0.50231	0.635	T	0.61387	-0.7073	10	0.59425	D	0.04	-6.2864	18.5235	0.90962	0.0:1.0:0.0:0.0	.	318	Q5XKL5	BTBD8_HUMAN	C	318	ENSP00000343686:S318C	ENSP00000343686:S318C	S	+	2	0	BTBD8	92385347	0.230000	0.23740	0.025000	0.17156	0.257000	0.26127	2.777000	0.47717	2.753000	0.94483	0.557000	0.71058	TCT		0.323	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		G	92612759	C	G	92612759	3	3	298	1	0	0	0	0	1	0	0	0	1549	913	32	4	983	4	BTBD8	1	92612759	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	2433505	92612759	156637862	7	17666											
CCDC19	25790	hgsc.bcm.edu	37	1	159846354	159846354	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:159846354C>A	ENST00000368099.4	-	10	1408	c.1344G>T	c.(1342-1344)agG>agT	p.R448S	CCDC19_ENST00000426543.2_Missense_Mutation_p.R363S|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACCGAAGAATCCTCTCGAACT	0.527																																																0													81	77	79					1																	159846354		2203	4300	6503	SO:0001583	missense	25790																														ENST00000368099.4:c.1344G>T	chr1.hg19:g.159846354C>A	ENSP00000357079:p.Arg448Ser			Missense_Mutation	SNP	ENST00000368099.4	hg19	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	c	19.82	3.899092	0.72754	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.11385	2.78;2.78	5.16	5.16	0.70880	.	0.148017	0.64402	D	0.000016	T	0.11239	0.0274	M	0.82823	2.61	0.47905	D	0.999549	B	0.31752	0.338	B	0.39617	0.305	T	0.01583	-1.1319	9	.	.	.	-16.358	10.0537	0.42233	0.0:0.9081:0.0:0.0919	.	448	Q9UL16	CCD19_HUMAN	S	448;363	ENSP00000357079:R448S;ENSP00000403044:R363S	.	R	-	3	2	CCDC19	158112978	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.145000	0.31577	2.571000	0.86741	0.486000	0.48141	AGG		0.527	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			A	159846354	C	A	159846354	3	1	298	1	0	0	0	0	1	0	0	0	2797	854	30	4	323	4	CCDC19	1	159846354	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	67233595	159846354	89404267	8	17667											
USF1	7391	hgsc.bcm.edu	37	1	161011449	161011449	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:161011449G>A	ENST00000368021.3	-	6	668	c.464C>T	c.(463-465)cCt>cTt	p.P155L	USF1_ENST00000435396.1_Missense_Mutation_p.P96L|F11R_ENST00000289779.3_5'Flank|TSTD1_ENST00000318289.10_5'Flank|TSTD1_ENST00000368024.1_5'Flank|USF1_ENST00000368019.1_Intron|USF1_ENST00000368020.1_Missense_Mutation_p.P155L|TSTD1_ENST00000466967.1_5'Flank|TSTD1_ENST00000368023.3_5'Flank|TSTD1_ENST00000423014.2_5'Flank	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	155					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACCAGTGCCAGGAGGGGTCGC	0.582											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													52	51	52					1																	161011449		2203	4300	6503	SO:0001583	missense	7391			BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"Basic helix-loop-helix proteins"	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.464C>T	chr1.hg19:g.161011449G>A	ENSP00000357000:p.Pro155Leu	1813	B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	ENST00000368021.3	hg19	CCDS1214.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792171	0.50102	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000435396;ENST00000534633	D;D;D	0.92911	-3.11;-3.11;-3.13	5.02	4.11	0.48088	.	0.265359	0.39020	N	0.001485	T	0.73289	0.3568	N	0.08118	0	0.48135	D	0.99959	B	0.02656	0.0	B	0.01281	0.0	T	0.71133	-0.4681	10	0.44086	T	0.13	-11.2539	11.3156	0.49390	0.088:0.0:0.912:0.0	.	155	P22415	USF1_HUMAN	L	155;155;96;96	ENSP00000356999:P155L;ENSP00000357000:P155L;ENSP00000390109:P96L	ENSP00000356999:P155L	P	-	2	0	USF1	159278073	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	6.370000	0.73114	1.345000	0.45676	0.655000	0.94253	CCT		0.582	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		A	161011449	G	A	161011449	3	1	298	1	0	0	0	0	1	0	0	0	17037	1000	35	2	492	2	USF1	1	161011449	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	1165095	161011449	88239172	9	17668											
NIT1	4817	hgsc.bcm.edu	37	1	161090529	161090529	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:161090529G>C	ENST00000368009.2	+	7	1034	c.958G>C	c.(958-960)Ggc>Cgc	p.G320R	DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000368008.1_Intron|PFDN2_ENST00000468311.1_5'Flank|NIT1_ENST00000392190.5_Missense_Mutation_p.G284R|NIT1_ENST00000368007.4_Missense_Mutation_p.G305R|PFDN2_ENST00000368010.3_5'Flank	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	320	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGACCTCTATGGCAATCTGGG	0.577																																																0													53	47	49					1																	161090529		2203	4300	6503	SO:0001583	missense	4817			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.958G>C	chr1.hg19:g.161090529G>C	ENSP00000356988:p.Gly320Arg		B1AQP3|D3DVF4|O76091	Missense_Mutation	SNP	ENST00000368009.2	hg19	CCDS1218.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700065	0.48307	.	.	ENSG00000158793	ENST00000368009;ENST00000368007;ENST00000392190	D;D;D	0.85629	-2.01;-2.01;-2.01	4.9	4.9	0.64082	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (2);	0.180864	0.48767	D	0.000178	D	0.85383	0.5684	L	0.37697	1.125	0.35101	D	0.765216	D;D	0.67145	0.995;0.996	D;D	0.67900	0.954;0.926	D	0.86846	0.2020	10	0.54805	T	0.06	-6.5407	15.6362	0.76953	0.0:0.0:1.0:0.0	.	305;320	Q86X76-4;Q86X76	.;NIT1_HUMAN	R	320;305;284	ENSP00000356988:G320R;ENSP00000356986:G305R;ENSP00000376028:G284R	ENSP00000356986:G305R	G	+	1	0	NIT1	159357153	0.997000	0.39634	0.996000	0.52242	0.646000	0.38490	2.400000	0.44504	2.551000	0.86045	0.563000	0.77884	GGC		0.577	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077060.1			C	161090529	G	C	161090529	3	2	298	1	0	0	0	0	1	0	0	0	10435	1348	47	4	1041	4	NIT1	1	161090529	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	79080	161090529	88160092	10	17669											
BAT2L2	23215	hgsc.bcm.edu	37	1	171553267	171553267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:171553267C>T	ENST00000338920.4	+	29	7813	c.7576C>T	c.(7576-7578)Caa>Taa	p.Q2526*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.Q2461*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.Q2528*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.Q2528*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2526	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GTATGAACATCAACTGGGGCA	0.478																																																0													199	195	197					1																	171553267		2203	4300	6503	SO:0001587	stop_gained	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7576C>T	chr1.hg19:g.171553267C>T	ENSP00000343629:p.Gln2526*		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	hg19	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	50	16.839304	0.99873	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.	.	.	6.16	6.16	0.99307	.	0.000000	0.43260	D	0.000582	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	2528;2480;2461;2528;2526;2283	.	ENSP00000343629:Q2526X	Q	+	1	0	PRRC2C	169819891	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.356000	0.79445	2.937000	0.99478	0.650000	0.86243	CAA		0.478	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		T	171553267	C	T	171553267	4	4	298	1	0	0	0	0	0	1	0	0	1321	827	29	2	7686	2	BAT2L2	1	171553267	Nonsense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	10462738	171553267	77697354	11	17670											
C1orf125	126859	hgsc.bcm.edu	37	1	179503894	179503894	+	Missense_Mutation	SNP	A	A	T	rs531976426	byFrequency	TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:179503894A>T	ENST00000367618.3	+	25	3215	c.2828A>T	c.(2827-2829)gAg>gTg	p.E943V		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	943	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGACAGGCAGAGGAGAAGTTT	0.338																																																0													68	70	69					1																	179503894		2203	4300	6503	SO:0001583	missense	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2828A>T	chr1.hg19:g.179503894A>T	ENSP00000356590:p.Glu943Val		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	hg19	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.139365	0.37728	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.34275	1.37;1.37	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.47838	0.1467	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.49532	-0.8930	10	0.87932	D	0	-4.2767	12.2781	0.54749	1.0:0.0:0.0:0.0	.	827;943	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	V	943;827;803	ENSP00000356590:E943V;ENSP00000391716:E803V	ENSP00000353471:E827V	E	+	2	0	AXDND1	177770517	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	3.729000	0.54999	2.179000	0.69175	0.482000	0.46254	GAG		0.338	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		T	179503894	A	T	179503894	3	4	298	1	0	0	0	0	1	0	0	0	1995	304	11	5	2922	5	C1orf125	1	179503894	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	7950627	179503894	69746727	12	17671											
TDRD5	163589	hgsc.bcm.edu	37	1	179609125	179609129	+	Frame_Shift_Del	DEL	GTGTT	GTGTT	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	GTGTT	GTGTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:179609125_179609129delGTGTT	ENST00000367614.1	+	10	2031_2035	c.1672_1676delGTGTT	c.(1672-1677)gtgttcfs	p.VF558fs	TDRD5_ENST00000444136.1_Frame_Shift_Del_p.VF558fs|TDRD5_ENST00000294848.8_Frame_Shift_Del_p.VF558fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	558	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGAAGTTGAAGTGTTCTACCCAGAC	0.395																																																0																																										SO:0001589	frameshift_variant	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1672_1676delGTGTT	chr1.hg19:g.179609125_179609129delGTGTT	ENSP00000356586:p.Val558fs		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Frame_Shift_Del	DEL	ENST00000367614.1	hg19	CCDS1332.1																																																																																				0.395	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		-	179609129	GTGTT	-	179609125	7	5	298	1	0	1	0	1	0	0	0	0	15738	1029	36	0	1706	0	TDRD5	1	179609125	Frame_Shift_Del	DEL	GTGTT	TCGA-B9-5155-01A-01D-1589-08	105231	179609125	69641496	13	17672											
CAPN9	10753	hgsc.bcm.edu	37	1	230907780	230907780	+	Silent	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:230907780A>G	ENST00000271971.2	+	7	923	c.810A>G	c.(808-810)agA>agG	p.R270R	CAPN9_ENST00000366666.2_Silent_p.R207R|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Silent_p.R270R	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	270	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GAGGCCAGAGAATCGAGCTCA	0.537																																																0													88	84	85					1																	230907780		2203	4300	6503	SO:0001819	synonymous_variant	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.810A>G	chr1.hg19:g.230907780A>G			B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	hg19	CCDS1586.1																																																																																				0.537	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		G	230907780	A	G	230907780	2	3	298	1	0	0	0	0	0	0	0	1	2634	243	9	3		3	CAPN9	1	230907780	Silent	SNP	A	TCGA-B9-5155-01A-01D-1589-08	51298655	230907780	18342841	14	17673											
PGBD2	267002	hgsc.bcm.edu	37	1	249211266	249211267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr1:249211266_249211267insA	ENST00000329291.5	+	3	630_631	c.483_484insA	c.(484-486)aatfs	p.N162fs	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000539153.1_Frame_Shift_Ins_p.N159fs	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	162										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTAATGAAACCAATCGTTATGC	0.376																																																0																																										SO:0001589	frameshift_variant	267002			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.485dupA	chr1.hg19:g.249211268_249211268dupA	ENSP00000331643:p.Asn162fs		B3KVR8|Q6MZF8	Frame_Shift_Ins	INS	ENST00000329291.5	hg19	CCDS31128.1																																																																																				0.376	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			A	249211267	-	A	249211266	7	5	298	1	0	1	1	0	0	0	0	0	11783	581	21	0	489	0	PGBD2	1	249211266	Frame_Shift_Ins	INS	-	TCGA-B9-5155-01A-01D-1589-08	18303486	249211266	39355	15	17674											
ATAD2B	54454	hgsc.bcm.edu	37	2	24046400	24046400	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:24046400G>C	ENST00000238789.5	-	16	2202	c.1859C>G	c.(1858-1860)gCc>gGc	p.A620G	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	620						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCAGGGCGGCTTCAGTGCA	0.468																																																0													77	74	75					2																	24046400		1978	4160	6138	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1859C>G	chr2.hg19:g.24046400G>C	ENSP00000238789:p.Ala620Gly		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	hg19	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060927	0.93846	.	.	ENSG00000119778	ENST00000238789;ENST00000458510	D;D	0.96396	-4.0;-3.74	5.21	5.21	0.72293	.	.	.	.	.	D	0.98280	0.9430	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99150	1.0858	9	0.87932	D	0	.	19.1413	0.93446	0.0:0.0:1.0:0.0	.	620	Q9ULI0	ATD2B_HUMAN	G	620;58	ENSP00000238789:A620G;ENSP00000392764:A58G	ENSP00000238789:A620G	A	-	2	0	ATAD2B	23899904	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.790000	0.99075	2.609000	0.88269	0.655000	0.94253	GCC		0.468	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		C	24046400	G	C	24046400	3	2	298	1	0	0	0	0	1	0	0	0	1072	1203	42	4	2569	4	ATAD2B	2	24046400	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08		24046400	219152973	16	17675											
C2orf44	80304	hgsc.bcm.edu	37	2	24262142	24262142	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:24262142C>A	ENST00000295148.4	-	2	280	c.223G>T	c.(223-225)Gtt>Ttt	p.V75F	C2orf44_ENST00000406895.3_Missense_Mutation_p.V75F	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	75									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGAGTAGAACAGGTGTATCA	0.517			T	ALK	NSCLC																																		Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0													113	100	104					2																	24262142		2203	4300	6503	SO:0001583	missense	80304			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.223G>T	chr2.hg19:g.24262142C>A	ENSP00000295148:p.Val75Phe		D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	hg19	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	C	7.466	0.645750	0.14451	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.51071	3.45;3.45;0.72	5.24	-5.89	0.02282	.	0.374860	0.32218	N	0.006412	T	0.16428	0.0395	N	0.08118	0	0.09310	N	0.999998	P;P	0.34546	0.456;0.456	B;B	0.27076	0.076;0.076	T	0.11060	-1.0603	10	0.87932	D	0	-0.5627	4.2048	0.10483	0.0901:0.4263:0.0883:0.3952	.	75;75	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	F	75	ENSP00000295148:V75F;ENSP00000385816:V75F;ENSP00000413426:V75F	ENSP00000295148:V75F	V	-	1	0	C2orf44	24115646	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.157000	0.16402	-1.253000	0.02488	-0.890000	0.02929	GTT		0.517	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		A	24262142	C	A	24262142	3	1	298	1	0	0	0	0	1	0	0	0	2170	478	17	4	1954	4	C2orf44	2	24262142	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	215742	24262142	218937231	17	17676											
ASPRV1	151516	hgsc.bcm.edu	37	2	70188627	70188627	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:70188627A>G	ENST00000320256.4	-	1	770	c.194T>C	c.(193-195)cTc>cCc	p.L65P	PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AAACCCACAGAGCAGTGTCGG	0.657																																																0													41	39	39					2																	70188627		2203	4300	6503	SO:0001583	missense	151516			AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.194T>C	chr2.hg19:g.70188627A>G	ENSP00000315383:p.Leu65Pro			Missense_Mutation	SNP	ENST00000320256.4	hg19	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974023	0.53720	.	.	ENSG00000244617	ENST00000320256	T	0.57273	0.41	5.79	4.57	0.56435	.	0.521020	0.14392	N	0.322440	T	0.52008	0.1708	N	0.24115	0.695	0.50813	D	0.999891	D	0.58970	0.984	P	0.57371	0.819	T	0.53472	-0.8434	10	0.87932	D	0	-8.9663	9.3054	0.37872	0.819:0.181:0.0:0.0	.	65	Q53RT3	APRV1_HUMAN	P	65	ENSP00000315383:L65P	ENSP00000315383:L65P	L	-	2	0	ASPRV1	70042131	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.247000	0.58750	2.207000	0.71202	0.533000	0.62120	CTC		0.657	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		G	70188627	A	G	70188627	3	3	298	1	0	0	0	0	1	0	0	0	1058	304	11	3	841	3	ASPRV1	2	70188627	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	45926485	70188627	173010746	18	17677											
SPOPL	339745	hgsc.bcm.edu	37	2	139318408	139318408	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:139318408G>A	ENST00000280098.4	+	8	1127	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	250	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGACCCTGAAGTTTTTAAAGA	0.328																																																0													72	76	75					2																	139318408		2203	4300	6503	SO:0001583	missense	339745				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"BTB/POZ domain containing"	27934	protein-coding gene	gene with protein product	"HIB homolog 2", "roadkill homolog 2"						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.748G>A	chr2.hg19:g.139318408G>A	ENSP00000280098:p.Val250Ile			Missense_Mutation	SNP	ENST00000280098.4	hg19	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402843	0.96030	.	.	ENSG00000144228	ENST00000280098	T	0.68331	-0.32	5.24	5.24	0.73138	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	L	0.59912	1.85	0.80722	D	1	D	0.56968	0.978	P	0.60682	0.878	T	0.76165	-0.3059	9	.	.	.	-16.2686	19.1816	0.93625	0.0:0.0:1.0:0.0	.	250	Q6IQ16	SPOPL_HUMAN	I	250	ENSP00000280098:V250I	.	V	+	1	0	SPOPL	139034878	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.601000	0.87937	0.655000	0.94253	GTT		0.328	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			A	139318408	G	A	139318408	3	1	298	1	0	0	0	0	1	0	0	0	15090	1029	36	2	774	2	SPOPL	2	139318408	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	69129781	139318408	103880965	19	17678											
PKP4	8502	hgsc.bcm.edu	37	2	159537000	159537001	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:159537000_159537001insT	ENST00000389759.3	+	22	3502_3503	c.3390_3391insT	c.(3391-3393)ttgfs	p.L1131fs	PKP4_ENST00000389757.3_Frame_Shift_Ins_p.L1088fs|AC005042.4_ENST00000342892.4_RNA|AC005042.4_ENST00000442666.1_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1131					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ATGCATACAGATTGTATTTGCA	0.351										HNSCC(62;0.18)																																						0																																										SO:0001589	frameshift_variant	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3392dupT	chr2.hg19:g.159537002_159537002dupT	ENSP00000374409:p.Leu1131fs		Q86W91	Frame_Shift_Ins	INS	ENST00000389759.3	hg19	CCDS33305.1																																																																																				0.351	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			T	159537001	-	T	159537000	7	5	298	1	0	1	1	0	0	0	0	0	11989	330	12	0	3472	0	PKP4	2	159537000	Frame_Shift_Ins	INS	-	TCGA-B9-5155-01A-01D-1589-08	20218592	159537000	83662373	20	17679											
CCDC141	285025	hgsc.bcm.edu	37	2	179701991	179701991	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:179701991G>A	ENST00000420890.2	-	23	4072	c.3955C>T	c.(3955-3957)Cat>Tat	p.H1319Y	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.H744Y	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1319										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCTCTGGATGTTCAGCACTG	0.493																																																0													121	105	110					2																	179701991		2203	4300	6503	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3955C>T	chr2.hg19:g.179701991G>A	ENSP00000395995:p.His1319Tyr		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	hg19		.	.	.	.	.	.	.	.	.	.	G	0.081	-1.183772	0.01620	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.44083	0.93;1.53;1.53	5.71	4.83	0.62350	.	1.233450	0.05438	N	0.547098	T	0.31167	0.0788	N	0.22421	0.69	0.09310	N	1	P;P	0.48503	0.61;0.911	B;B	0.41813	0.26;0.367	T	0.03306	-1.1050	10	0.07482	T	0.82	0.9855	10.9382	0.47257	0.1512:0.0:0.8488:0.0	.	744;744	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	Y	1319;763;744	ENSP00000395995:H1319Y;ENSP00000344627:H763Y;ENSP00000295723:H744Y	ENSP00000295723:H744Y	H	-	1	0	CCDC141	179410236	0.771000	0.28555	0.016000	0.15963	0.438000	0.31896	2.406000	0.44557	1.387000	0.46486	0.655000	0.94253	CAT		0.493	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		A	179701991	G	A	179701991	3	1	298	1	0	0	0	0	1	0	0	0	2777	1377	48	2	401	2	CCDC141	2	179701991	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	20164991	179701991	63497382	21	17680											
DOCK10	55619	hgsc.bcm.edu	37	2	225670917	225670917	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:225670917T>C	ENST00000258390.7	-	34	3807	c.3740A>G	c.(3739-3741)cAa>cGa	p.Q1247R	DOCK10_ENST00000409592.3_Missense_Mutation_p.Q1241R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1247					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGTCTGGCTTTGAAATCCTCC	0.363																																																0													142	140	140					2																	225670917		1854	4089	5943	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3740A>G	chr2.hg19:g.225670917T>C	ENSP00000258390:p.Gln1247Arg		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	hg19	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.613|1.613	-0.523497|-0.523497	0.04141|0.04141	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.21361	.|2.01;2.01	5.85|5.85	1.96|1.96	0.26148|0.26148	.|.	.|0.628162	.|0.17934	.|N	.|0.157066	T|T	0.18215|0.18215	0.0437|0.0437	L|L	0.54323|0.54323	1.7|1.7	0.28864|0.28864	N|N	0.895366|0.895366	.|B;B	.|0.25955	.|0.112;0.138	.|B;B	.|0.18561	.|0.022;0.013	T|T	0.25293|0.25293	-1.0136|-1.0136	5|10	.|0.10902	.|T	.|0.67	.|.	13.4531|13.4531	0.61182|0.61182	0.0:0.0:0.3725:0.6275|0.0:0.0:0.3725:0.6275	.|.	.|1247;1241	.|Q96BY6;B3FL70	.|DOC10_HUMAN;.	E|R	138|1241;1247	.|ENSP00000386694:Q1241R;ENSP00000258390:Q1247R	.|ENSP00000258390:Q1247R	K|Q	-|-	1|2	0|0	DOCK10|DOCK10	225379161|225379161	0.680000|0.680000	0.27605|0.27605	0.279000|0.279000	0.24732|0.24732	0.344000|0.344000	0.29017|0.29017	0.810000|0.810000	0.27183|0.27183	0.089000|0.089000	0.17243|0.17243	-0.291000|-0.291000	0.09656|0.09656	AAA|CAA		0.363	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			C	225670917	T	C	225670917	3	2	298	1	0	0	0	0	1	0	0	0	4687	1812	63	3	2912	3	DOCK10	2	225670917	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08	45968926	225670917	17528456	22	17681											
COL6A3	1293	hgsc.bcm.edu	37	2	238262001	238262001	+	Missense_Mutation	SNP	C	C	G	rs138588234		TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr2:238262001C>G	ENST00000295550.4	-	25	7125	c.6673G>C	c.(6673-6675)Ggg>Cgg	p.G2225R	COL6A3_ENST00000346358.4_Missense_Mutation_p.G2025R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2019R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2024R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1618R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2019R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2225	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2225R(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTCTGGTCCCCTGCTCTCCC	0.507																																																1	Substitution - Missense(1)	skin(1)											71	63	66					2																	238262001		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6673G>C	chr2.hg19:g.238262001C>G	ENSP00000295550:p.Gly2225Arg		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058734	0.36277	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	5.21	5.21	0.72293	.	0.000000	0.51477	D	0.000089	D	0.99796	0.9913	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.96877	0.9643	10	0.87932	D	0	.	16.9555	0.86258	0.0:1.0:0.0:0.0	.	1618;1618;2019;2225	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	R	2225;2024;2019;1618;2019;2025	ENSP00000295550:G2225R;ENSP00000315609:G2024R;ENSP00000315873:G2019R;ENSP00000418285:G1618R;ENSP00000386844:G2019R;ENSP00000295546:G2025R	ENSP00000295550:G2225R	G	-	1	0	COL6A3	237926740	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.391000	0.66266	2.429000	0.82318	0.655000	0.94253	GGG		0.507	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		G	238262001	C	G	238262001	3	3	298	1	0	0	0	0	1	0	0	0	3703	623	22	4	2940	4	COL6A3	2	238262001	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	12591084	238262001	4937372	23	17682											
GADL1	339896	hgsc.bcm.edu	37	3	30819676	30819676	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:30819676T>C	ENST00000282538.5	-	14	1537	c.1387A>G	c.(1387-1389)Aat>Gat	p.N463D	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	463					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						CTTACCAAATTAAGTTTTGCC	0.368																																																0													69	74	72					3																	30819676		2203	4300	6503	SO:0001583	missense	339896			AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1387A>G	chr3.hg19:g.30819676T>C	ENSP00000282538:p.Asn463Asp			Missense_Mutation	SNP	ENST00000282538.5	hg19	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	T	10.90	1.481092	0.26598	.	.	ENSG00000144644	ENST00000282538	T	0.35973	1.28	6.02	-3.37	0.04898	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.641607	0.16112	N	0.229060	T	0.17704	0.0425	N	0.05230	-0.09	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.20672	-1.0268	10	0.07990	T	0.79	-15.4742	21.8233	0.99961	0.0:0.0:0.7797:0.2203	.	463	Q6ZQY3	GADL1_HUMAN	D	463	ENSP00000282538:N463D	ENSP00000282538:N463D	N	-	1	0	GADL1	30794680	0.310000	0.24527	0.388000	0.26195	0.995000	0.86356	0.409000	0.21082	-0.824000	0.04295	0.533000	0.62120	AAT		0.368	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		C	30819676	T	C	30819676	3	2	298	1	0	0	0	0	1	0	0	0	6187	1754	61	3	186	3	GADL1	3	30819676	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08		30819676	167202754	24	17683											
SETD2	29072	hgsc.bcm.edu	37	3	47158197	47158197	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:47158197C>G	ENST00000409792.3	-	4	4544	c.4502G>C	c.(4501-4503)tGt>tCt	p.C1501S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1501	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAGAGGTGTACACTCACACTG	0.318			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													114	110	111					3																	47158197		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4502G>C	chr3.hg19:g.47158197C>G	ENSP00000386759:p.Cys1501Ser		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973314	0.92919	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.85411	-1.98	5.93	5.93	0.95920	AWS (2);	0.000000	0.64402	D	0.000007	D	0.95538	0.8550	H	0.96691	3.865	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	D	0.96291	0.9214	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	1501;1501	F2Z317;Q9BYW2	.;SETD2_HUMAN	S	1501	ENSP00000386759:C1501S	ENSP00000386759:C1501S	C	-	2	0	SETD2	47133201	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.794000	0.85869	2.814000	0.96858	0.591000	0.81541	TGT		0.318	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47158197	C	G	47158197	3	3	298	1	0	0	0	0	1	0	0	0	14137	478	17	4	3264	4	SETD2	3	47158197	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	16338521	47158197	150864233	25	17684											
USP19	10869	hgsc.bcm.edu	37	3	49149414	49149414	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:49149414A>G	ENST00000398888.2	-	19	2842	c.2524T>C	c.(2524-2526)Ttc>Ctc	p.F842L	USP19_ENST00000398892.3_Missense_Mutation_p.F882L|USP19_ENST00000417901.1_Missense_Mutation_p.F945L|USP19_ENST00000434032.2_Missense_Mutation_p.F943L|USP19_ENST00000398896.1_Missense_Mutation_p.F650L|USP19_ENST00000398898.2_Missense_Mutation_p.F882L|USP19_ENST00000453664.1_Missense_Mutation_p.F933L	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	842	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGACCAGGAAGGGGTAGCCA	0.587																																																0													81	87	85					3																	49149414		2103	4217	6320	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2524T>C	chr3.hg19:g.49149414A>G	ENSP00000381863:p.Phe842Leu		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	hg19	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360831	0.82353	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.21031	2.07;2.04;2.14;2.13;2.03;2.17;2.12	5.94	5.94	0.96194	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.407146	0.28895	N	0.013785	T	0.34571	0.0902	L	0.35593	1.075	0.80722	D	1	P;P;P;D;B	0.63046	0.767;0.767;0.602;0.992;0.149	B;B;B;D;B	0.76071	0.34;0.34;0.25;0.987;0.093	T	0.03922	-1.0992	10	0.18276	T	0.48	-26.8203	16.3979	0.83621	1.0:0.0:0.0:0.0	.	943;933;842;882;650	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	L	650;882;945;933;882;842;943	ENSP00000381870:F650L;ENSP00000381872:F882L;ENSP00000395260:F945L;ENSP00000400090:F933L;ENSP00000381867:F882L;ENSP00000381863:F842L;ENSP00000401197:F943L	ENSP00000381863:F842L	F	-	1	0	USP19	49124418	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.978000	0.93450	2.279000	0.76181	0.459000	0.35465	TTC		0.587	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		G	49149414	A	G	49149414	3	3	298	1	0	0	0	0	1	0	0	0	17055	72	3	3	1464	3	USP19	3	49149414	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	1991217	49149414	148873016	26	17685											
ACOX2	8309	hgsc.bcm.edu	37	3	58514651	58514651	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:58514651G>A	ENST00000302819.5	-	9	1316	c.1025C>T	c.(1024-1026)aCa>aTa	p.T342I	ACOX2_ENST00000459701.2_Missense_Mutation_p.T328I	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	342					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTGCTGTTGTGTCTGGTAGTC	0.507																																																0													138	131	133					3																	58514651		2203	4300	6503	SO:0001583	missense	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1025C>T	chr3.hg19:g.58514651G>A	ENSP00000307697:p.Thr342Ile		A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	hg19	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376899	0.82682	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.70869	-0.52;-0.52	4.94	4.94	0.65067	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.85927	0.5811	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.87969	0.2735	10	0.87932	D	0	-28.2004	18.3225	0.90243	0.0:0.0:1.0:0.0	.	342	Q99424	ACOX2_HUMAN	I	328;342	ENSP00000418562:T328I;ENSP00000307697:T342I	ENSP00000307697:T342I	T	-	2	0	ACOX2	58489691	1.000000	0.71417	0.965000	0.40720	0.808000	0.45660	8.509000	0.90529	2.728000	0.93425	0.561000	0.74099	ACA		0.507	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			A	58514651	G	A	58514651	3	1	298	1	0	0	0	0	1	0	0	0	159	1377	48	2	1048	2	ACOX2	3	58514651	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	9365237	58514651	139507779	27	17686											
IQCB1	9657	hgsc.bcm.edu	37	3	121500645	121500645	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:121500645T>C	ENST00000310864.6	-	13	1569	c.1355A>G	c.(1354-1356)gAt>gGt	p.D452G	IQCB1_ENST00000349820.6_Missense_Mutation_p.D319G	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	452					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCGGCGTGCATCAGTGAGTTC	0.408																																																0													151	141	145					3																	121500645		2203	4300	6503	SO:0001583	missense	9657			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1355A>G	chr3.hg19:g.121500645T>C	ENSP00000311505:p.Asp452Gly		Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	hg19	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.710100	0.68730	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.79141	-1.24;-1.24	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	M	0.66939	2.045	0.52501	D	0.999953	D;D	0.89917	0.993;1.0	D;D	0.87578	0.971;0.998	D	0.86234	0.1639	10	0.72032	D	0.01	-13.185	10.5952	0.45333	0.0:0.0:0.0:1.0	.	452;319	Q15051;Q15051-2	IQCB1_HUMAN;.	G	452;319	ENSP00000311505:D452G;ENSP00000323756:D319G	ENSP00000311505:D452G	D	-	2	0	IQCB1	122983335	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.446000	0.52928	2.062000	0.61559	0.482000	0.46254	GAT		0.408	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		C	121500645	T	C	121500645	3	2	298	1	0	0	0	0	1	0	0	0	7805	1435	50	3	453	3	IQCB1	3	121500645	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08	62985994	121500645	76521785	28	17687											
MBNL1	4154	hgsc.bcm.edu	37	3	152165476	152165476	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr3:152165476C>A	ENST00000463374.1	+	6	1440	c.929C>A	c.(928-930)aCc>aAc	p.T310N	Y_RNA_ENST00000364347.1_RNA|MBNL1_ENST00000357472.3_Missense_Mutation_p.T292N|MBNL1_ENST00000282488.7_Missense_Mutation_p.T224N|MBNL1_ENST00000282486.6_Missense_Mutation_p.T310N|MBNL1_ENST00000492948.1_Missense_Mutation_p.T292N|MBNL1_ENST00000498502.1_Missense_Mutation_p.T310N|MBNL1_ENST00000493459.1_Missense_Mutation_p.T253N|MBNL1_ENST00000485910.1_Missense_Mutation_p.T224N|MBNL1_ENST00000545754.1_Missense_Mutation_p.T224N|MBNL1_ENST00000324210.5_Missense_Mutation_p.T292N|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000355460.2_Missense_Mutation_p.T292N|MBNL1_ENST00000324196.5_Intron	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	310					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AACGGTGCCACCGCAGTCTTT	0.453																																																0													97	95	95					3																	152165476		2203	4300	6503	SO:0001583	missense	4154			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.929C>A	chr3.hg19:g.152165476C>A	ENSP00000418108:p.Thr310Asn		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	hg19	CCDS3165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.64|17.64	3.440834|3.440834	0.63067|0.63067	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000464596|ENST00000282486;ENST00000282488;ENST00000355460;ENST00000493459;ENST00000324210;ENST00000498502;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75072|0.75072	0.3800|0.3800	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;B;P;P;P;P;P	.|0.58970	.|0.984;0.371;0.57;0.923;0.612;0.954;0.847	.|P;B;B;P;B;P;P	.|0.59703	.|0.862;0.149;0.36;0.461;0.197;0.662;0.662	T|T	0.73701|0.73701	-0.3900|-0.3900	5|9	.|0.41790	.|T	.|0.15	.|.	19.4004|19.4004	0.94627|0.94627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|224;224;310;292;253;292;292	.|Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.|.;.;MBNL1_HUMAN;.;.;.;.	T|N	291|310;224;292;253;292;310;224;292;224;310;224;292	.|.	.|ENSP00000282486:T310N	P|T	+|+	1|2	0|0	MBNL1|MBNL1	153648166|153648166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.518000|7.518000	0.81795|0.81795	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	CCG|ACC		0.453	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		A	152165476	C	A	152165476	3	1	298	1	0	0	0	0	1	0	0	0	9355	507	18	4	951	4	MBNL1	3	152165476	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	30664831	152165476	45856954	29	17688											
RAB28	9364	hgsc.bcm.edu	37	4	13481115	13481115	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr4:13481115delA	ENST00000330852.5	-	2	325	c.111delT	c.(109-111)tttfs	p.F37fs	RAB28_ENST00000338176.4_Frame_Shift_Del_p.F37fs|RAB28_ENST00000288723.4_Frame_Shift_Del_p.F37fs	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	37					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						ACTGTTTCCCAAAAGTTTCTT	0.308																																																0													69	70	70					4																	13481115		2203	4292	6495	SO:0001589	frameshift_variant	9364			X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"RAB, member RAS oncogene"	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.111delT	chr4.hg19:g.13481115delA	ENSP00000328551:p.Phe37fs		G8JLC5|Q8IYR8|Q8NI05	Frame_Shift_Del	DEL	ENST00000330852.5	hg19	CCDS33961.1																																																																																				0.308	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		-	13481115	A	-	13481115	7	5	298	1	0	1	0	1	0	0	0	0	12922	127	5	0	718	0	RAB28	4	13481115	Frame_Shift_Del	DEL	A	TCGA-B9-5155-01A-01D-1589-08		13481115	177673161	30	17689											
WDR19	57728	hgsc.bcm.edu	37	4	39196261	39196261	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr4:39196261C>G	ENST00000399820.3	+	5	542	c.388C>G	c.(388-390)Cga>Gga	p.R130G	WDR19_ENST00000288634.7_Intron|WDR19_ENST00000506503.1_Missense_Mutation_p.R130G	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	130					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TCAGACATCTCGAAAGATTCC	0.403																																																0													94	86	88					4																	39196261		1834	4094	5928	SO:0001583	missense	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.388C>G	chr4.hg19:g.39196261C>G	ENSP00000382717:p.Arg130Gly		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	hg19	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986458	0.74589	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000506503;ENST00000399836	T;T;T	0.30714	3.42;1.52;3.42	5.58	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	M	0.89785	3.06	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.979	T	0.69720	-0.5069	10	0.51188	T	0.08	-8.1952	17.1715	0.86832	0.1347:0.8653:0.0:0.0	.	130;130	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	G	130;71;130;129	ENSP00000382717:R130G;ENSP00000426918:R71G;ENSP00000423491:R130G	ENSP00000382717:R130G	R	+	1	2	WDR19	38872656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.725000	0.68507	2.604000	0.88044	0.655000	0.94253	CGA		0.403	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			G	39196261	C	G	39196261	3	3	298	1	0	0	0	0	1	0	0	0	17284	876	31	4	406	4	WDR19	4	39196261	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	25715146	39196261	151958015	31	17690											
ARSJ	79642	hgsc.bcm.edu	37	4	114823444	114823444	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr4:114823444C>T	ENST00000315366.7	-	2	2652	c.1786G>A	c.(1786-1788)Gtt>Att	p.V596I	ARSJ_ENST00000541197.1_Intron	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	596				STCHSGVTCG -> KPANLAR (in Ref. 2; CAJ18095 and 3; AAQ89010). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCACAAGTAACACCTGAATGG	0.363																																																0													73	68	69					4																	114823444		1876	4106	5982	SO:0001583	missense	79642				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1786G>A	chr4.hg19:g.114823444C>T	ENSP00000320219:p.Val596Ile		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	hg19	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275258	0.23307	.	.	ENSG00000180801	ENST00000315366;ENST00000545965	D	0.96967	-4.19	5.4	-1.33	0.09172	.	9.916930	0.00447	U	0.000097	D	0.89424	0.6711	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.82550	-0.0401	10	0.33141	T	0.24	.	4.2183	0.10545	0.1145:0.2273:0.4949:0.1632	.	596	Q5FYB0	ARSJ_HUMAN	I	596;165	ENSP00000320219:V596I	ENSP00000320219:V596I	V	-	1	0	ARSJ	115042893	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.114000	0.15520	0.004000	0.14682	-0.165000	0.13383	GTT		0.363	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		T	114823444	C	T	114823444	3	4	298	1	0	0	0	0	1	0	0	0	995	478	17	2	17	2	ARSJ	4	114823444	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	75627183	114823444	76330832	32	17691											
SLC45A2	51151	hgsc.bcm.edu	37	5	33982376	33982376	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr5:33982376T>C	ENST00000296589.4	-	2	673	c.527A>G	c.(526-528)aAg>aGg	p.K176R	SLC45A2_ENST00000382102.3_Missense_Mutation_p.K176R|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000509381.1_Missense_Mutation_p.K176R|SLC45A2_ENST00000345083.5_Missense_Mutation_p.K176R	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	176					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GCCCTTCTCCTTGTCCTGATG	0.493																																					Ovarian(31;380 859 8490 22203 49048)											0													107	103	104					5																	33982376		2203	4300	6503	SO:0001583	missense	51151			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.527A>G	chr5.hg19:g.33982376T>C	ENSP00000296589:p.Lys176Arg		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	hg19	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.821212	0.71028	.	.	ENSG00000164175	ENST00000296589;ENST00000382102;ENST00000509381;ENST00000345083	T;T;D;T	0.91521	-0.69;-0.69;-2.86;-0.69	5.2	4.0	0.46444	Major facilitator superfamily domain, general substrate transporter (1);	0.072278	0.85682	D	0.000000	D	0.86176	0.5870	L	0.60067	1.865	0.58432	D	0.999997	P;B;B	0.41498	0.752;0.198;0.096	B;B;B	0.40659	0.336;0.155;0.115	T	0.82741	-0.0307	10	0.02654	T	1	-13.0181	11.4541	0.50171	0.1351:0.0:0.0:0.8649	.	176;176;176	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	R	176	ENSP00000296589:K176R;ENSP00000371534:K176R;ENSP00000421100:K176R;ENSP00000340444:K176R	ENSP00000296589:K176R	K	-	2	0	SLC45A2	34018133	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	4.064000	0.57506	0.888000	0.36160	0.450000	0.29827	AAG		0.493	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		C	33982376	T	C	33982376	3	2	298	1	0	0	0	0	1	0	0	0	14647	1609	56	3	1104	3	SLC45A2	5	33982376	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08		33982376	146932884	33	17692											
PAIP1	10605	hgsc.bcm.edu	37	5	43555937	43555937	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr5:43555937delA	ENST00000306846.3	-	2	662	c.430delT	c.(430-432)tacfs	p.Y144fs	PAIP1_ENST00000514514.1_Frame_Shift_Del_p.Y65fs|PAIP1_ENST00000436644.2_Frame_Shift_Del_p.Y65fs|PAIP1_ENST00000338972.4_Frame_Shift_Del_p.Y32fs	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	144					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CTTACTGTGTAACTGGAAGAA	0.403																																																0													115	125	121					5																	43555937		2203	4300	6503	SO:0001589	frameshift_variant	10605			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.430delT	chr5.hg19:g.43555937delA	ENSP00000302768:p.Tyr144fs		A6NKV8|O60455|Q96B61|Q9BS63	Frame_Shift_Del	DEL	ENST00000306846.3	hg19	CCDS3947.1																																																																																				0.403	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		-	43555937	A	-	43555937	7	5	298	1	0	1	0	1	0	0	0	0	11398	362	13	0	1049	0	PAIP1	5	43555937	Frame_Shift_Del	DEL	A	TCGA-B9-5155-01A-01D-1589-08	9573561	43555937	137359323	34	17693											
PPIP5K2	23262	hgsc.bcm.edu	37	5	102503901	102503901	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr5:102503901A>G	ENST00000358359.3	+	19	2697	c.2188A>G	c.(2188-2190)Ata>Gta	p.I730V	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.I730V|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.I730V	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	730					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATATGACTGTATAAAATATGA	0.333																																																0													102	112	109					5																	102503901		2202	4289	6491	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2188A>G	chr5.hg19:g.102503901A>G	ENSP00000351126:p.Ile730Val		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	hg19		.	.	.	.	.	.	.	.	.	.	A	10.45	1.354908	0.24512	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	N	0.10972	0.075	0.52501	D	0.999953	B;B;B	0.23185	0.062;0.029;0.081	B;B;B	0.33960	0.173;0.06;0.1	T	0.14337	-1.0476	10	0.27082	T	0.32	.	10.3029	0.43663	0.9261:0.0:0.0739:0.0	.	730;730;730	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	V	730;730;730;730;4	ENSP00000313070:I730V;ENSP00000351126:I730V;ENSP00000416016:I730V;ENSP00000424948:I4V	ENSP00000313070:I730V	I	+	1	0	PPIP5K2	102531800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.118000	0.64673	2.218000	0.71995	0.377000	0.23210	ATA		0.333	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		G	102503901	A	G	102503901	3	3	298	1	0	0	0	0	1	0	0	0	12338	449	16	3	2258	3	PPIP5K2	5	102503901	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	58947964	102503901	78411359	35	17694											
SRP19	6728	hgsc.bcm.edu	37	5	112200371	112200371	+	Silent	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr5:112200371A>G	ENST00000505459.1	+	4	398	c.243A>G	c.(241-243)agA>agG	p.R81R	CTC-487M23.8_ENST00000506997.1_Intron|SRP19_ENST00000515463.1_Missense_Mutation_p.E56G|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-554D6.1_ENST00000520401.1_3'UTR|SRP19_ENST00000282999.3_Silent_p.R81R	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	81					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		ACAGAGGCAGAGTCCGGGTCC	0.408																																																0													94	96	95					5																	112200371		2202	4300	6502	SO:0001819	synonymous_variant	6728				CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1	5q21-q22	2008-07-18	2002-08-29		ENSG00000153037	ENSG00000153037			11300	protein-coding gene	gene with protein product		182175	"signal recognition particle 19kD"			2460823	Standard	NM_003135		Approved		uc011cvu.2	P09132	OTTHUMG00000128805	ENST00000505459.1:c.243A>G	chr5.hg19:g.112200371A>G			B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	ENST00000505459.1	hg19	CCDS4108.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.841718	0.32513	.	.	ENSG00000153037	ENST00000515463	.	.	.	5.81	2.02	0.26589	.	.	.	.	.	T	0.38585	0.1046	.	.	.	0.22511	N	0.999035	.	.	.	.	.	.	T	0.36383	-0.9750	5	0.87932	D	0	3.1809	4.3944	0.11356	0.6417:0.0:0.2229:0.1354	.	.	.	.	G	56	.	ENSP00000425562:E56G	E	+	2	0	SRP19	112228270	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.495000	0.22483	0.107000	0.17824	0.454000	0.30748	GAG		0.408	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250737.3	NM_003135		G	112200371	A	G	112200371	2	3	298	1	0	0	0	0	0	0	0	1	15159	301	11	3		3	SRP19	5	112200371	Silent	SNP	A	TCGA-B9-5155-01A-01D-1589-08	9696470	112200371	68714889	36	17695											
FOXF2	2295	hgsc.bcm.edu	37	6	1390675	1390675	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:1390675C>G	ENST00000259806.1	+	1	607	c.493C>G	c.(493-495)Ctc>Gtc	p.L165V		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	165					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		GCCTAAGGGCCTCGGGCGGCC	0.682																																																0													47	56	53					6																	1390675		2202	4300	6502	SO:0001583	missense	2295			U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"Forkhead boxes"	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.493C>G	chr6.hg19:g.1390675C>G	ENSP00000259806:p.Leu165Val		Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	hg19	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669525	0.67814	.	.	ENSG00000137273	ENST00000259806	D	0.95377	-3.69	4.53	2.67	0.31697	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	D	0.000003	D	0.85767	0.5773	N	0.10916	0.065	0.50632	D	0.999889	P	0.46064	0.872	P	0.51918	0.684	T	0.82733	-0.0311	10	0.17832	T	0.49	.	7.1657	0.25689	0.2936:0.6205:0.0:0.0859	.	165	Q12947	FOXF2_HUMAN	V	165	ENSP00000259806:L165V	ENSP00000259806:L165V	L	+	1	0	FOXF2	1335674	0.998000	0.40836	0.997000	0.53966	0.974000	0.67602	3.613000	0.54152	0.901000	0.36495	0.536000	0.68110	CTC		0.682	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			G	1390675	C	G	1390675	3	3	298	1	0	0	0	0	1	0	0	0	6008	681	24	4	495	4	FOXF2	6	1390675	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08		1390675	169724392	37	17696											
GMPR	2766	hgsc.bcm.edu	37	6	16254914	16254914	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:16254914T>A	ENST00000259727.4	+	4	527	c.413T>A	c.(412-414)tTt>tAt	p.F138Y		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	138					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TCAGAACATTTTGTGGAATTC	0.443																																																0													198	185	190					6																	16254914		2203	4300	6503	SO:0001583	missense	2766				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.413T>A	chr6.hg19:g.16254914T>A	ENSP00000259727:p.Phe138Tyr		Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	hg19	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	T	33	5.251862	0.95336	.	.	ENSG00000137198	ENST00000259727	T	0.78595	-1.19	5.65	5.65	0.86999	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.89125	0.6626	H	0.95611	3.695	0.80722	D	1	P	0.46784	0.884	P	0.58391	0.838	D	0.92062	0.5657	10	0.87932	D	0	5.8785	15.8909	0.79296	0.0:0.0:0.0:1.0	.	138	P36959	GMPR1_HUMAN	Y	138	ENSP00000259727:F138Y	ENSP00000259727:F138Y	F	+	2	0	GMPR	16362893	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.680000	0.84062	2.146000	0.66826	0.533000	0.62120	TTT		0.443	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			A	16254914	T	A	16254914	3	1	298	1	0	0	0	0	1	0	0	0	6498	1841	64	5	427	5	GMPR	6	16254914	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08	14864239	16254914	154860153	38	17697											
RBM24	221662	hgsc.bcm.edu	37	6	17292212	17292212	+	Silent	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:17292212G>A	ENST00000379052.5	+	4	809	c.573G>A	c.(571-573)ggG>ggA	p.G191G	RBM24_ENST00000425446.2_Silent_p.G133G|RBM24_ENST00000318204.5_Silent_p.G146G|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	191	Ala-rich.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			TTACTGCTGGGGGCTATGGCT	0.642																																																0													16	17	16					6																	17292212		2195	4295	6490	SO:0001819	synonymous_variant	221662			BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"RNA binding motif (RRM) containing"	21539	protein-coding gene	gene with protein product			"RNA-binding region (RNP1, RRM) containing 6"	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.573G>A	chr6.hg19:g.17292212G>A			E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Silent	SNP	ENST00000379052.5	hg19	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	G	1.218	-0.627857	0.03610	.	.	ENSG00000112183	ENST00000503965	T	0.24723	1.84	5.66	1.6	0.23607	.	0.052843	0.64402	D	0.000001	T	0.08537	0.0212	.	.	.	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.18871	0.023;0.023	T	0.09862	-1.0655	9	0.32370	T	0.25	-31.6851	11.5655	0.50802	0.0677:0.4891:0.4432:0.0	.	90;105	B7Z6B4;B7Z6B7	.;.	E	156	ENSP00000421971:G156E	ENSP00000421971:G156E	G	+	2	0	RBM24	17400191	0.982000	0.34865	0.998000	0.56505	0.622000	0.37654	0.135000	0.15952	0.303000	0.22785	0.655000	0.94253	GGG		0.642	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		A	17292212	G	A	17292212	2	1	298	1	0	0	0	0	0	0	0	1	13130	1219	43	2		2	RBM24	6	17292212	Silent	SNP	G	TCGA-B9-5155-01A-01D-1589-08	1037298	17292212	153822855	39	17698											
DDX43	55510	hgsc.bcm.edu	37	6	74119027	74119027	+	Silent	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:74119027G>A	ENST00000370336.4	+	10	1394	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	412	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGATAATGAAGATTTTGTTAG	0.393																																																0													216	203	207					6																	74119027		2203	4300	6503	SO:0001819	synonymous_variant	55510				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1236G>A	chr6.hg19:g.74119027G>A			B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	hg19	CCDS4977.1																																																																																				0.393	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		A	74119027	G	A	74119027	2	1	298	1	0	0	0	0	0	0	0	1	4365	933	33	2		2	DDX43	6	74119027	Silent	SNP	G	TCGA-B9-5155-01A-01D-1589-08	56826815	74119027	96996040	40	17699											
AMD1	262	hgsc.bcm.edu	37	6	111213404	111213404	+	Silent	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:111213404T>C	ENST00000368885.3	+	5	804	c.468T>C	c.(466-468)tgT>tgC	p.C156C	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Silent_p.C8C|AMD1_ENST00000368876.1_Silent_p.C87C|AMD1_ENST00000368877.5_Silent_p.C127C	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	156					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	ATTCTGACTGTTGGTATGTTT	0.308																																																0													309	287	294					6																	111213404		2203	4300	6503	SO:0001819	synonymous_variant	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.468T>C	chr6.hg19:g.111213404T>C			E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Silent	SNP	ENST00000368885.3	hg19	CCDS5086.1																																																																																				0.308	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			C	111213404	T	C	111213404	2	2	298	1	0	0	0	0	0	0	0	1	566	1731	60	3		3	AMD1	6	111213404	Silent	SNP	T	TCGA-B9-5155-01A-01D-1589-08	37094377	111213404	59901663	41	17700											
SLC2A12	154091	hgsc.bcm.edu	37	6	134350343	134350343	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr6:134350343C>A	ENST00000275230.5	-	2	775	c.620G>T	c.(619-621)gGa>gTa	p.G207V		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	207					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TTGCAAAACTCCCAAGGGAAT	0.428																																					Melanoma(122;1663 1672 14489 35294 41228)											0													88	89	89					6																	134350343		2203	4300	6503	SO:0001583	missense	154091			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.620G>T	chr6.hg19:g.134350343C>A	ENSP00000275230:p.Gly207Val		B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	hg19	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427056	0.62733	.	.	ENSG00000146411	ENST00000275230	T	0.74315	-0.83	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054326	0.85682	D	0.000000	T	0.75295	0.3830	L	0.52011	1.625	0.80722	D	1	D	0.52996	0.957	P	0.58172	0.834	T	0.77621	-0.2519	10	0.59425	D	0.04	-13.7225	14.7476	0.69499	0.0:0.8556:0.1444:0.0	.	207	Q8TD20	GTR12_HUMAN	V	207	ENSP00000275230:G207V	ENSP00000275230:G207V	G	-	2	0	SLC2A12	134392036	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	6.163000	0.71880	2.542000	0.85734	0.467000	0.42956	GGA		0.428	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			A	134350343	C	A	134350343	3	1	298	1	0	0	0	0	1	0	0	0	14547	855	30	4	1249	4	SLC2A12	6	134350343	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	23136939	134350343	36764724	42	17701											
DYNC1I1	1780	hgsc.bcm.edu	37	7	95668696	95668696	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:95668696C>T	ENST00000324972.6	+	14	1716	c.1523C>T	c.(1522-1524)tCa>tTa	p.S508L	DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S471L|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S491L|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S471L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S488L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S491L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	508					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTTGTCACATCATCATTTGAC	0.448																																																0													127	114	118					7																	95668696		2203	4300	6503	SO:0001583	missense	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1523C>T	chr7.hg19:g.95668696C>T	ENSP00000320130:p.Ser508Leu		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	hg19	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849383	0.91277	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	4.27	4.27	0.50696	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	H	0.96805	3.885	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.998;0.998;0.999	D;D;D;D;D	0.79784	0.993;0.988;0.988;0.993;0.988	D	0.90105	0.4187	10	0.54805	T	0.06	-8.2427	18.0108	0.89222	0.0:1.0:0.0:0.0	.	491;488;491;508;471	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	L	491;508;471;488;471;491	ENSP00000392337:S491L;ENSP00000320130:S508L;ENSP00000438377:S471L;ENSP00000398118:S488L;ENSP00000352348:S471L;ENSP00000412444:S491L	ENSP00000320130:S508L	S	+	2	0	DYNC1I1	95506632	1.000000	0.71417	0.936000	0.37596	0.939000	0.58152	7.609000	0.82925	2.666000	0.90696	0.557000	0.71058	TCA		0.448	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		T	95668696	C	T	95668696	3	4	298	1	0	0	0	0	1	0	0	0	4844	838	29	2	1573	2	DYNC1I1	7	95668696	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08		95668696	63469967	43	17702											
DLX5	1749	hgsc.bcm.edu	37	7	96651541	96651541	+	Missense_Mutation	SNP	C	C	G	rs376488297		TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:96651541C>G	ENST00000222598.4	-	2	969	c.496G>C	c.(496-498)Gaa>Caa	p.E166Q	DLX5_ENST00000486603.2_Missense_Mutation_p.E166Q|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	166					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TCGGCGCGTTCCGGCAAGGCG	0.542																																																0													101	102	101					7																	96651541		2203	4300	6503	SO:0001583	missense	1749				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"Homeoboxes / ANTP class : NKL subclass"	2918	protein-coding gene	gene with protein product		600028	"distal-less homeo box 5"			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.496G>C	chr7.hg19:g.96651541C>G	ENSP00000222598:p.Glu166Gln		B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	hg19	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931253	0.92389	.	.	ENSG00000105880	ENST00000222598	D	0.96200	-3.94	5.41	5.41	0.78517	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	L	0.47078	1.49	0.80722	D	1	D;D	0.71674	0.966;0.998	P;D	0.76575	0.789;0.988	D	0.97186	0.9854	10	0.87932	D	0	-9.535	18.9868	0.92773	0.0:1.0:0.0:0.0	.	166;166	B7Z4P3;P56178	.;DLX5_HUMAN	Q	166	ENSP00000222598:E166Q	ENSP00000222598:E166Q	E	-	1	0	DLX5	96489477	1.000000	0.71417	0.968000	0.41197	0.708000	0.40852	7.582000	0.82546	2.816000	0.96949	0.563000	0.77884	GAA		0.542	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			G	96651541	C	G	96651541	3	3	298	1	0	0	0	0	1	0	0	0	4576	864	30	4	381	4	DLX5	7	96651541	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	982845	96651541	62487122	44	17703											
STAG3	10734	hgsc.bcm.edu	37	7	99800113	99800113	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:99800113T>C	ENST00000426455.1	+	25	3007	c.2600T>C	c.(2599-2601)cTa>cCa	p.L867P	GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.L867P|STAG3_ENST00000394018.2_Missense_Mutation_p.L809P|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	867					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATAGAGCGGCTACACCAGCGG	0.512																																																0													106	113	110					7																	99800113		2203	4300	6503	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2600T>C	chr7.hg19:g.99800113T>C	ENSP00000400359:p.Leu867Pro		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	hg19	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.986379	0.74589	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296	T;T;T	0.33865	1.39;1.42;1.39	5.03	5.03	0.67393	.	0.000000	0.39544	N	0.001333	T	0.61148	0.2324	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.997;0.998;0.976	T	0.66658	-0.5868	10	0.87932	D	0	-8.8042	12.7629	0.57374	0.0:0.0:0.0:1.0	.	809;867;867	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	P	867;809;867	ENSP00000400359:L867P;ENSP00000377586:L809P;ENSP00000319318:L867P	ENSP00000319318:L867P	L	+	2	0	STAG3	99638049	0.998000	0.40836	0.999000	0.59377	0.806000	0.45545	7.178000	0.77657	2.122000	0.65172	0.460000	0.39030	CTA		0.512	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		C	99800113	T	C	99800113	3	2	298	1	0	0	0	0	1	0	0	0	15249	1522	53	3	2694	3	STAG3	7	99800113	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08	3148572	99800113	59338550	45	17704											
PSMC2	5701	hgsc.bcm.edu	37	7	103002482	103002482	+	Silent	SNP	G	G	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:103002482G>T	ENST00000435765.1	+	6	780	c.369G>T	c.(367-369)gtG>gtT	p.V123V	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.V123V|PSMC2_ENST00000544811.1_5'UTR|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	123					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)|ATP catabolic process (GO:0006200)|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)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGTTTGTGGTGGACCTTAGTG	0.383																																																0													156	143	148					7																	103002482		2203	4300	6503	SO:0001819	synonymous_variant	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.369G>T	chr7.hg19:g.103002482G>T			A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	hg19	CCDS5731.1																																																																																				0.383	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		T	103002482	G	T	103002482	2	4	298	1	0	0	0	0	0	0	0	1	12691	1335	47	4		4	PSMC2	7	103002482	Silent	SNP	G	TCGA-B9-5155-01A-01D-1589-08	3202369	103002482	56136181	46	17705											
WEE2	494551	hgsc.bcm.edu	37	7	141408685	141408685	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr7:141408685A>T	ENST00000397541.2	+	1	533	c.127A>T	c.(127-129)Aag>Tag	p.K43*	WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	43					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)					AACCCCAGAGAAGGGTGAAGT	0.473																																																0													167	168	167					7																	141408685		1953	4139	6092	SO:0001587	stop_gained	494551			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.127A>T	chr7.hg19:g.141408685A>T	ENSP00000380675:p.Lys43*			Nonsense_Mutation	SNP	ENST00000397541.2	hg19	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	a	36	5.620662	0.96660	.	.	ENSG00000214102	ENST00000397541	.	.	.	4.78	-2.3	0.06785	.	1.588760	0.04251	U	0.338596	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0729	2.105	0.03688	0.4246:0.2574:0.07:0.2479	.	.	.	.	X	43	.	ENSP00000380675:K43X	K	+	1	0	WEE2	141055154	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.169000	0.16641	-0.353000	0.08224	-0.255000	0.11280	AAG		0.473	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		T	141408685	A	T	141408685	4	4	298	1	0	0	0	0	0	1	0	0	17350	247	9	5	129	5	WEE2	7	141408685	Nonsense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	38406203	141408685	17729978	47	17706											
MYST3	7994	hgsc.bcm.edu	37	8	41794928	41794928	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr8:41794928C>A	ENST00000396930.3	-	17	3741	c.3198G>T	c.(3196-3198)gaG>gaT	p.E1066D	KAT6A_ENST00000265713.2_Missense_Mutation_p.E1066D|KAT6A_ENST00000406337.1_Missense_Mutation_p.E1066D	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1066					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTTCATCGATCTCAAACGTGG	0.433																																																0													125	120	122					8																	41794928		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3198G>T	chr8.hg19:g.41794928C>A	ENSP00000380136:p.Glu1066Asp		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	hg19	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132187	0.37630	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.62105	0.05;0.05;0.05	5.63	-1.75	0.08031	.	0.000000	0.64402	D	0.000004	T	0.64271	0.2583	M	0.63843	1.955	0.26390	N	0.976585	D	0.67145	0.996	P	0.54759	0.76	T	0.62812	-0.6775	10	0.24483	T	0.36	-25.1078	12.5465	0.56203	0.0:0.464:0.0:0.536	.	1066	Q92794	KAT6A_HUMAN	D	1066;1066;1066;646	ENSP00000265713:E1066D;ENSP00000385888:E1066D;ENSP00000380136:E1066D	ENSP00000265713:E1066D	E	-	3	2	KAT6A	41914085	0.998000	0.40836	0.955000	0.39395	0.909000	0.53808	0.458000	0.21892	-0.247000	0.09597	0.650000	0.86243	GAG		0.433	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		A	41794928	C	A	41794928	3	1	298	1	0	0	0	0	1	0	0	0	10106	912	32	4	2824	4	MYST3	8	41794928	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08		41794928	104569094	48	17707											
HAS2	3037	hgsc.bcm.edu	37	8	122627047	122627047	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr8:122627047delC	ENST00000303924.4	-	4	1498	c.961delG	c.(961-963)gtgfs	p.V321fs		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	321					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGCTCAGCACCCGGTTCGTG	0.453																																																0													143	136	138					8																	122627047		2203	4300	6503	SO:0001589	frameshift_variant	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.961delG	chr8.hg19:g.122627047delC	ENSP00000306991:p.Val321fs		Q32MM3	Frame_Shift_Del	DEL	ENST00000303924.4	hg19	CCDS6335.1																																																																																				0.453	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		-	122627047	C	-	122627047	7	5	298	1	0	1	0	1	0	0	0	0	6964	507	18	0	701	0	HAS2	8	122627047	Frame_Shift_Del	DEL	C	TCGA-B9-5155-01A-01D-1589-08	80832119	122627047	23736975	49	17708											
SLURP1	57152	hgsc.bcm.edu	37	8	143822661	143822661	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr8:143822661C>A	ENST00000246515.1	-	3	237	c.212G>T	c.(211-213)cGc>cTc	p.R71L		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	71	UPAR/Ly6.		R -> H (in MDM; reduced expression of the protein). {ECO:0000269|PubMed:17008884}.		cell activation (GO:0001775)|cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGAGCAGGAGCGGGTCACCAC	0.657																																																0			GRCh37	CM070268	SLURP1	M							55	53	54					8																	143822661		2202	4296	6498	SO:0001583	missense	57152			AY579080	CCDS6387.1	8q24.3	2004-11-16			ENSG00000126233	ENSG00000126233			18746	protein-coding gene	gene with protein product	"lymphocyte antigen 6-like secreted", "ARS component B"	606119				11285253, 10211827	Standard	NM_020427		Approved	ARS, ANUP, MDM, ArsB, LY6LS	uc003ywy.3	P55000	OTTHUMG00000164685	ENST00000246515.1:c.212G>T	chr8.hg19:g.143822661C>A	ENSP00000246515:p.Arg71Leu		Q53YJ6|Q6PUA6|Q92483	Missense_Mutation	SNP	ENST00000246515.1	hg19	CCDS6387.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370708	0.61624	.	.	ENSG00000126233	ENST00000246515	T	0.73897	-0.79	3.76	1.84	0.25277	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.390066	0.17436	N	0.174313	T	0.73536	0.3599	M	0.67953	2.075	0.29005	N	0.887223	P	0.49090	0.919	P	0.49421	0.61	T	0.67945	-0.5539	10	0.72032	D	0.01	.	4.8794	0.13672	0.0:0.6546:0.2207:0.1247	.	71	P55000	SLUR1_HUMAN	L	71	ENSP00000246515:R71L	ENSP00000246515:R71L	R	-	2	0	SLURP1	143819663	0.028000	0.19301	0.813000	0.32504	0.624000	0.37722	0.103000	0.15292	0.321000	0.23259	0.448000	0.29417	CGC		0.657	SLURP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379741.1	NM_020427		A	143822661	C	A	143822661	3	1	298	1	0	0	0	0	1	0	0	0	14762	768	27	4	103	4	SLURP1	8	143822661	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	21195614	143822661	2541361	50	17709											
PRSS3	5646	hgsc.bcm.edu	37	9	33797829	33797829	+	Missense_Mutation	SNP	G	G	A	rs138654302		TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:33797829G>A	ENST00000361005.5	+	3	374	c.374G>A	c.(373-375)cGc>cAc	p.R125H	PRSS3_ENST00000429677.3_Missense_Mutation_p.R61H|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.R82H|PRSS3_ENST00000379405.3_Missense_Mutation_p.R68H	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	125	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCCATCAGCCGCATCCAGGTG	0.577																																																0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109	100	103		245,182,203,374	-1	0.9	9	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PRSS3	NM_001197097.2,NM_001197098.1,NM_002771.3,NM_007343.3	29,29,29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign	82/262,61/241,68/248,125/305	33797829	2,13004	2203	4300	6503	SO:0001583	missense	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.374G>A	chr9.hg19:g.33797829G>A	ENSP00000354280:p.Arg125His		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	hg19	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	8.689	0.906916	0.17833	2.27E-4	1.16E-4	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	3.38	-1.0	0.10196	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.193106	0.56097	N	0.000021	T	0.80210	0.4581	L	0.35644	1.08	0.39352	D	0.965773	B;B;B	0.21520	0.006;0.057;0.006	B;B;B	0.20184	0.009;0.028;0.007	T	0.66532	-0.5900	10	0.40728	T	0.16	.	8.2506	0.31715	0.4318:0.0:0.5682:0.0	.	68;125;82	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	H	125;80;82;61;68	ENSP00000354280:R125H;ENSP00000401249:R80H;ENSP00000340889:R82H;ENSP00000401828:R61H;ENSP00000368715:R68H	ENSP00000340889:R82H	R	+	2	0	PRSS3	33787829	0.962000	0.33011	0.872000	0.34217	0.074000	0.17049	2.182000	0.42556	-0.172000	0.10779	-0.671000	0.03813	CGC		0.577	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		A	33797829	G	A	33797829	3	1	298	1	0	0	0	0	1	0	0	0	12627	1087	38	1	428	1	PRSS3	9	33797829	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08		33797829	107415602	51	17710											
CCIN	881	hgsc.bcm.edu	37	9	36169599	36169599	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:36169599G>A	ENST00000335119.2	+	1	211	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	34	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGCCCTGAGTGTGGACAACCA	0.502																																																0													164	154	157					9																	36169599		2203	4300	6503	SO:0001583	missense	881			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.100G>A	chr9.hg19:g.36169599G>A	ENSP00000334996:p.Val34Met		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	hg19	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977645	0.53720	.	.	ENSG00000185972	ENST00000335119	T	0.77750	-1.12	5.69	5.69	0.88448	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.50627	D	0.000116	D	0.90508	0.7026	M	0.92367	3.3	0.36717	D	0.880964	D	0.67145	0.996	D	0.81914	0.995	D	0.94029	0.7299	10	0.87932	D	0	.	15.3016	0.73955	0.0:0.0:1.0:0.0	.	34	Q13939	CALI_HUMAN	M	34	ENSP00000334996:V34M	ENSP00000334996:V34M	V	+	1	0	CCIN	36159599	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.496000	0.66918	2.690000	0.91761	0.561000	0.74099	GTG		0.502	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		A	36169599	G	A	36169599	3	1	298	1	0	0	0	0	1	0	0	0	2880	1377	48	2	102	2	CCIN	9	36169599	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	2371770	36169599	105043832	52	17711											
PTCH1	5727	hgsc.bcm.edu	37	9	98229471	98229471	+	Silent	SNP	C	C	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:98229471C>A	ENST00000331920.6	-	15	2786	c.2487G>T	c.(2485-2487)gtG>gtT	p.V829V	PTCH1_ENST00000375274.2_Silent_p.V828V|PTCH1_ENST00000418258.1_Silent_p.V678V|PTCH1_ENST00000429896.2_Silent_p.V678V|PTCH1_ENST00000421141.1_Silent_p.V678V|PTCH1_ENST00000430669.2_Silent_p.V763V|PTCH1_ENST00000437951.1_Silent_p.V763V	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	829			V -> M (in squamous cell carcinoma). {ECO:0000269|PubMed:11286632}.		brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGACATACTTCACGTTACTGA	0.448																																																0													168	154	159					9																	98229471		2203	4300	6503	SO:0001819	synonymous_variant	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2487G>T	chr9.hg19:g.98229471C>A			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	hg19	CCDS6714.1																																																																																				0.448	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		A	98229471	C	A	98229471	2	1	298	1	0	0	0	0	0	0	0	1	12735	813	29	4		4	PTCH1	9	98229471	Silent	SNP	C	TCGA-B9-5155-01A-01D-1589-08	62059872	98229471	42983960	53	17712											
C9orf125	84302	hgsc.bcm.edu	37	9	104238602	104238602	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:104238602T>C	ENST00000374851.1	-	4	1920	c.773A>G	c.(772-774)gAg>gGg	p.E258G	RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.E258G|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.E258G|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	258						integral component of membrane (GO:0016021)											CCGCATGGGCTCTGGATTGAT	0.557																																																0													88	89	89					9																	104238602		2203	4300	6503	SO:0001583	missense	84302			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.773A>G	chr9.hg19:g.104238602T>C	ENSP00000363984:p.Glu258Gly		Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	hg19	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277935	0.80692	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78863	-0.2036	9	0.66056	D	0.02	-17.5086	15.1322	0.72533	0.0:0.0:0.0:1.0	.	258	Q9BRR3	CI125_HUMAN	G	258	.	ENSP00000363980:E258G	E	-	2	0	C9orf125	103278423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.177000	0.69029	0.455000	0.32223	GAG		0.557	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		C	104238602	T	C	104238602	3	2	298	1	0	0	0	0	1	0	0	0	2456	1551	54	3	442	3	C9orf125	9	104238602	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08	6009131	104238602	36974829	54	17713											
C5	727	hgsc.bcm.edu	37	9	123742457	123742457	+	Silent	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:123742457A>G	ENST00000223642.1	-	28	3591	c.3562T>C	c.(3562-3564)Ttg>Ctg	p.L1188L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1188					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GAAATGGCCAATGTAAAGGTG	0.413																																																0													141	139	140					9																	123742457		2203	4300	6503	SO:0001819	synonymous_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3562T>C	chr9.hg19:g.123742457A>G			Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	hg19	CCDS6826.1																																																																																				0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		G	123742457	A	G	123742457	2	3	298	1	0	0	0	0	0	0	0	1	2282	98	4	3		3	C5	9	123742457	Silent	SNP	A	TCGA-B9-5155-01A-01D-1589-08	19503855	123742457	17470974	55	17714											
BRD3	8019	hgsc.bcm.edu	37	9	136915699	136915699	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr9:136915699C>G	ENST00000303407.7	-	5	696	c.511G>C	c.(511-513)Gtg>Ctg	p.V171L	BRD3_ENST00000357885.2_Missense_Mutation_p.V171L|BRD3_ENST00000371834.2_Missense_Mutation_p.V171L	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	171					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ACGGCCGCCACTTGCTGTGTA	0.607			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													29	37	34					9																	136915699		2202	4299	6501	SO:0001583	missense	8019				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.511G>C	chr9.hg19:g.136915699C>G	ENSP00000305918:p.Val171Leu		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	hg19	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710248	0.48517	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.46451	0.87;0.87;0.87	4.97	4.06	0.47325	.	0.269386	0.30528	N	0.009440	T	0.40791	0.1131	M	0.68952	2.095	0.31270	N	0.691828	B;B	0.12013	0.005;0.0	B;B	0.12837	0.008;0.001	T	0.43861	-0.9365	10	0.25106	T	0.35	-32.3956	13.0826	0.59121	0.0:0.9204:0.0:0.0796	.	171;171	Q15059-2;Q15059	.;BRD3_HUMAN	L	171	ENSP00000305918:V171L;ENSP00000360900:V171L;ENSP00000350557:V171L	ENSP00000305918:V171L	V	-	1	0	BRD3	135905520	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.505000	0.53356	1.182000	0.42928	0.561000	0.74099	GTG		0.607	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		G	136915699	C	G	136915699	3	3	298	1	0	0	0	0	1	0	0	0	1505	565	20	4	1701	4	BRD3	9	136915699	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	13173242	136915699	4297732	56	17715											
KLF6	1316	hgsc.bcm.edu	37	10	3823844	3823844	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:3823844C>A	ENST00000497571.1	-	2	925	c.665G>T	c.(664-666)cGg>cTg	p.R222L	KLF6_ENST00000542957.1_Missense_Mutation_p.R222L|KLF6_ENST00000469435.1_Missense_Mutation_p.R222L|KLF6_ENST00000173785.4_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	222					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TGTGTGCGTCCGCTGGTGTGC	0.677											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													45	39	41					10																	3823844		2203	4300	6503	SO:0001583	missense	1316			U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.665G>T	chr10.hg19:g.3823844C>A	ENSP00000419923:p.Arg222Leu	614	B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	hg19	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729162	0.89390	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.78595	1.82;-1.19;-1.19	4.88	4.88	0.63580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.85745	0.5768	L	0.54908	1.71	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.738	D;D;B	0.91635	0.999;0.999;0.359	D	0.87437	0.2392	10	0.87932	D	0	.	17.05	0.86516	0.0:1.0:0.0:0.0	.	222;222;222	F5H3M5;Q99612-2;Q99612	.;.;KLF6_HUMAN	L	222	ENSP00000419923:R222L;ENSP00000445301:R222L;ENSP00000419079:R222L	ENSP00000419079:R222L	R	-	2	0	KLF6	3813844	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.711000	0.84669	2.253000	0.74438	0.462000	0.41574	CGG		0.677	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			A	3823844	C	A	3823844	3	1	298	1	0	0	0	0	1	0	0	0	8352	652	23	4	198	4	KLF6	10	3823844	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08		3823844	131710903	57	17716											
C10orf140	387640	hgsc.bcm.edu	37	10	21804183	21804183	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:21804183T>C	ENST00000449193.2	-	4	4821	c.2569A>G	c.(2569-2571)Att>Gtt	p.I857V	SKIDA1_ENST00000444772.3_Missense_Mutation_p.I778V	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	776						nucleus (GO:0005634)											CTCCCAATAATGAGTGATGGT	0.438																																																0													114	105	108					10																	21804183		1886	4112	5998	SO:0001583	missense	387640			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2569A>G	chr10.hg19:g.21804183T>C	ENSP00000410041:p.Ile857Val		B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	hg19	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	T	1.949	-0.441669	0.04604	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.64	4.51	0.55191	.	0.181152	0.48286	D	0.000183	T	0.21761	0.0524	N	0.12182	0.205	0.28344	N	0.9212	B	0.18741	0.03	B	0.13407	0.009	T	0.18053	-1.0349	9	0.11485	T	0.65	-2.0894	9.6526	0.39906	0.0:0.1404:0.0:0.8596	.	857	E9PAX1	.	V	857;778	.	ENSP00000442432:I778V	I	-	1	0	C10orf140	21844189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.252000	0.43196	1.081000	0.41110	0.533000	0.62120	ATT		0.438	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		C	21804183	T	C	21804183	3	2	298	1	0	0	0	0	1	0	0	0	1597	1464	51	3	161	3	C10orf140	10	21804183	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08	17980339	21804183	113730564	58	17717											
KIAA1217	56243	hgsc.bcm.edu	37	10	24762791	24762791	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:24762791G>C	ENST00000376454.3	+	6	1511	c.1481G>C	c.(1480-1482)gGc>gCc	p.G494A	KIAA1217_ENST00000376451.2_Missense_Mutation_p.G212A|KIAA1217_ENST00000430453.2_Missense_Mutation_p.G415A|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G494A|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G494A|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G212A|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G414A|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G212A|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G212A	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	494					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATGCCCACGGCCCCCCTCAC	0.577																																																0													91	81	84					10																	24762791		2203	4300	6503	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1481G>C	chr10.hg19:g.24762791G>C	ENSP00000365637:p.Gly494Ala		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	hg19	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	3.550	-0.091916	0.07053	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.44	4.46	0.54185	.	0.426273	0.28312	N	0.015814	T	0.57286	0.2043	L	0.55481	1.735	0.30862	N	0.733437	B;B;P;B;P;P;D;B	0.89917	0.418;0.349;0.787;0.168;0.787;0.787;1.0;0.417	B;B;B;B;B;B;D;B	0.76071	0.107;0.05;0.228;0.107;0.228;0.228;0.987;0.124	T	0.52162	-0.8612	10	0.12103	T	0.63	.	10.9169	0.47142	0.0:0.0:0.5812:0.4187	.	494;494;212;212;212;212;494;494	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	A	414;494;494;212;494;494;344;415;212;212;212;212;212	ENSP00000365645:G414A;ENSP00000365639:G494A;ENSP00000392625:G494A;ENSP00000365637:G494A;ENSP00000365635:G494A;ENSP00000404798:G344A;ENSP00000389680:G415A;ENSP00000302343:G212A;ENSP00000379722:G212A;ENSP00000365634:G212A;ENSP00000379723:G212A	ENSP00000302343:G212A	G	+	2	0	KIAA1217	24802797	0.645000	0.27286	0.447000	0.26932	0.176000	0.22953	3.691000	0.54720	2.561000	0.86390	0.655000	0.94253	GGC		0.577	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		C	24762791	G	C	24762791	3	2	298	1	0	0	0	0	1	0	0	0	8218	1203	42	4	1503	4	KIAA1217	10	24762791	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	2958608	24762791	110771956	59	17718											
HERC4	26091	hgsc.bcm.edu	37	10	69714847	69714847	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:69714847A>G	ENST00000395198.3	-	19	2337	c.2090T>C	c.(2089-2091)cTt>cCt	p.L697P	HERC4_ENST00000412272.2_Missense_Mutation_p.L697P|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.L587P|HERC4_ENST00000373700.4_Missense_Mutation_p.L689P	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	697					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TGGGAGAAAAAGAGAGGAGAC	0.393																																																0													102	97	99					10																	69714847		2203	4300	6503	SO:0001583	missense	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2090T>C	chr10.hg19:g.69714847A>G	ENSP00000378624:p.Leu697Pro		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	hg19	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155772	0.78114	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.54279	0.84;0.58;0.6;0.62	5.69	5.69	0.88448	.	0.200034	0.41294	D	0.000909	T	0.61999	0.2392	L	0.45352	1.415	0.80722	D	1	P;D;P;P;P	0.54397	0.955;0.966;0.885;0.937;0.897	P;P;P;P;P	0.62649	0.66;0.905;0.571;0.771;0.594	T	0.64715	-0.6342	10	0.72032	D	0.01	.	11.8771	0.52554	0.8544:0.1456:0.0:0.0	.	697;587;547;689;697	Q5GLZ8-3;Q5GLZ8-6;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	P	587;697;697;689	ENSP00000277817:L587P;ENSP00000416504:L697P;ENSP00000378624:L697P;ENSP00000362804:L689P	ENSP00000277817:L587P	L	-	2	0	HERC4	69384853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.194000	0.77789	2.168000	0.68352	0.533000	0.62120	CTT		0.393	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		G	69714847	A	G	69714847	3	3	298	1	0	0	0	0	1	0	0	0	7062	72	3	3	1115	3	HERC4	10	69714847	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	44952056	69714847	65819900	60	17719											
CCAR1	55749	hgsc.bcm.edu	37	10	70513756	70513756	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:70513756G>A	ENST00000265872.6	+	11	1385	c.1266G>A	c.(1264-1266)atG>atA	p.M422I	SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000535016.1_Missense_Mutation_p.M407I|CCAR1_ENST00000543719.1_Missense_Mutation_p.M407I	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	422					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTATGTAATGCACAGAGAAG	0.378																																																0													137	138	138					10																	70513756		2203	4300	6503	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1266G>A	chr10.hg19:g.70513756G>A	ENSP00000265872:p.Met422Ile		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	hg19	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514342	0.64522	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.92;1.93;1.92	5.95	5.95	0.96441	.	0.041894	0.85682	D	0.000000	T	0.26011	0.0634	L	0.50333	1.59	0.50467	D	0.999877	B;P;B	0.35844	0.048;0.524;0.088	B;B;B	0.28849	0.025;0.095;0.05	T	0.02167	-1.1202	10	0.25751	T	0.34	-13.4805	20.3886	0.98946	0.0:0.0:1.0:0.0	.	407;422;396	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	I	422;407;407;407;396;227	ENSP00000265872:M422I;ENSP00000441820:M407I;ENSP00000445254:M407I;ENSP00000439252:M407I;ENSP00000438610:M396I;ENSP00000439642:M227I	ENSP00000265872:M422I	M	+	3	0	CCAR1	70183762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.600000	0.74132	2.810000	0.96702	0.650000	0.86243	ATG		0.378	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		A	70513756	G	A	70513756	3	1	298	1	0	0	0	0	1	0	0	0	2732	1319	46	2	1304	2	CCAR1	10	70513756	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	798909	70513756	65020991	61	17720											
POLR3A	11128	hgsc.bcm.edu	37	10	79745045	79745045	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr10:79745045C>T	ENST00000372371.3	-	24	3262	c.3125G>A	c.(3124-3126)gGt>gAt	p.G1042D		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1042					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTGGCTCACCAATGCTCTG	0.537																																																0													124	122	123					10																	79745045		2203	4300	6503	SO:0001583	missense	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3125G>A	chr10.hg19:g.79745045C>T	ENSP00000361446:p.Gly1042Asp		Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	hg19	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197516	0.94960	.	.	ENSG00000148606	ENST00000372371	D	0.87491	-2.26	5.95	5.95	0.96441	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.96405	0.8827	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97111	0.9804	9	.	.	.	-13.79	20.3802	0.98930	0.0:1.0:0.0:0.0	.	1042	O14802	RPC1_HUMAN	D	1042	ENSP00000361446:G1042D	.	G	-	2	0	POLR3A	79415051	1.000000	0.71417	0.942000	0.38095	0.985000	0.73830	7.336000	0.79245	2.822000	0.97130	0.563000	0.77884	GGT		0.537	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		T	79745045	C	T	79745045	3	4	298	1	0	0	0	0	1	0	0	0	12230	507	18	2	1079	2	POLR3A	10	79745045	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	9231289	79745045	55789702	62	17721											
SLC5A12	159963	hgsc.bcm.edu	37	11	26720065	26720065	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:26720065A>G	ENST00000396005.3	-	7	1148	c.839T>C	c.(838-840)tTg>tCg	p.L280S	SLC5A12_ENST00000280467.6_Missense_Mutation_p.L280S	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	280					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GAGACCCAGCAAGTTAAAATA	0.438																																																0													113	103	106					11																	26720065		2203	4299	6502	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.839T>C	chr11.hg19:g.26720065A>G	ENSP00000379326:p.Leu280Ser		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	hg19	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423743	0.62733	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.89415	-2.51;-2.51;-2.51	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000002	D	0.94059	0.8096	M	0.75150	2.29	0.54753	D	0.999984	B;D	0.89917	0.22;1.0	B;D	0.87578	0.217;0.998	D	0.93413	0.6770	10	0.40728	T	0.16	.	16.6277	0.84984	1.0:0.0:0.0:0.0	.	280;280	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	S	280;280;92	ENSP00000379326:L280S;ENSP00000280467:L280S;ENSP00000435053:L92S	ENSP00000280467:L280S	L	-	2	0	SLC5A12	26676641	1.000000	0.71417	0.914000	0.36105	0.771000	0.43674	9.154000	0.94694	2.330000	0.79161	0.528000	0.53228	TTG		0.438	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		G	26720065	A	G	26720065	3	3	298	1	0	0	0	0	1	0	0	0	14670	131	5	3	1053	3	SLC5A12	11	26720065	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08		26720065	108286451	63	17722											
CAPRIN1	4076	hgsc.bcm.edu	37	11	34118752	34118752	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:34118752A>G	ENST00000341394.4	+	17	2099	c.1910A>G	c.(1909-1911)gAt>gGt	p.D637G	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.D637G|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.D637G|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.D556G|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.D637G	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	637					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGAGGATATGATGGTTACCGC	0.368																																																0													93	92	92					11																	34118752		2202	4298	6500	SO:0001583	missense	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1910A>G	chr11.hg19:g.34118752A>G	ENSP00000340329:p.Asp637Gly		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	hg19	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.954141	0.92726	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	6.17	6.17	0.99709	.	0.090003	0.85682	D	0.000000	T	0.56659	0.2000	M	0.74258	2.255	0.58432	D	0.999993	D;D	0.71674	0.998;0.996	D;D	0.71870	0.975;0.924	T	0.57087	-0.7871	10	0.51188	T	0.08	-10.4721	16.8222	0.85835	1.0:0.0:0.0:0.0	.	637;637	Q14444;Q14444-2	CAPR1_HUMAN;.	G	637;637;637;637;556	ENSP00000340329:D637G;ENSP00000374296:D637G;ENSP00000434150:D637G;ENSP00000434204:D637G;ENSP00000431581:D556G	ENSP00000340329:D637G	D	+	2	0	CAPRIN1	34075328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	GAT		0.368	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		G	34118752	A	G	34118752	3	3	298	1	0	0	0	0	1	0	0	0	2637	333	12	3	1972	3	CAPRIN1	11	34118752	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	7398687	34118752	100887764	64	17723											
FOLH1	2346	hgsc.bcm.edu	37	11	49175458	49175458	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:49175458delT	ENST00000256999.2	-	17	2170	c.1910delA	c.(1909-1911)aagfs	p.K637fs	FOLH1_ENST00000340334.7_Frame_Shift_Del_p.K622fs|FOLH1_ENST00000356696.3_Frame_Shift_Del_p.K637fs|FOLH1_ENST00000533034.1_Frame_Shift_Del_p.K622fs|FOLH1_ENST00000343844.4_Frame_Shift_Del_p.K329fs	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	637					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGTAAAATTCTTTACTGCAGA	0.338																																																0													84	86	85					11																	49175458		2200	4296	6496	SO:0001589	frameshift_variant	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1910delA	chr11.hg19:g.49175458delT	ENSP00000256999:p.Lys637fs		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Frame_Shift_Del	DEL	ENST00000256999.2	hg19	CCDS7946.1																																																																																				0.338	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		-	49175458	T	-	49175458	7	5	298	1	0	1	0	1	0	0	0	0	5981	1609	56	0	354	0	FOLH1	11	49175458	Frame_Shift_Del	DEL	T	TCGA-B9-5155-01A-01D-1589-08	15056706	49175458	85831058	65	17724											
C11orf82	220042	hgsc.bcm.edu	37	11	82642927	82642927	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:82642927C>A	ENST00000533655.1	+	6	759	c.547C>A	c.(547-549)Caa>Aaa	p.Q183K	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.Q183K|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000329143.3_5'UTR	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		183					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)		p.Q183E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CTACTTCCATCAACTTTTGCA	0.418																																																1	Substitution - Missense(1)	lung(1)											177	179	178					11																	82642927		2203	4300	6503	SO:0001583	missense	220042																														ENST00000533655.1:c.547C>A	chr11.hg19:g.82642927C>A	ENSP00000435421:p.Gln183Lys		Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	hg19	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	6.456	0.452276	0.12283	.	.	ENSG00000165490	ENST00000430323;ENST00000533655	T;T	0.14640	2.49;2.49	5.45	5.45	0.79879	.	0.357786	0.25127	N	0.032927	T	0.16599	0.0399	L	0.56769	1.78	0.80722	D	1	P	0.39282	0.666	B	0.33339	0.162	T	0.03103	-1.1072	9	.	.	.	.	19.289	0.94090	0.0:1.0:0.0:0.0	.	183	Q8IXT1	NOXIN_HUMAN	K	183	ENSP00000414687:Q183K;ENSP00000435421:Q183K	.	Q	+	1	0	C11orf82	82320575	0.908000	0.30866	0.511000	0.27724	0.134000	0.20937	3.767000	0.55288	2.567000	0.86603	0.563000	0.77884	CAA		0.418	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			A	82642927	C	A	82642927	3	1	298	1	0	0	0	0	1	0	0	0	1667	827	29	4	561	4	C11orf82	11	82642927	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	33467469	82642927	52363589	66	17725											
MRE11A	4361	hgsc.bcm.edu	37	11	94224022	94224022	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:94224022A>C	ENST00000323929.3	-	3	352	c.130T>G	c.(130-132)Tta>Gta	p.L44V	MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000540013.1_Missense_Mutation_p.L44V|MRE11A_ENST00000393241.4_Missense_Mutation_p.L44V|ANKRD49_ENST00000544612.1_5'Flank|MRE11A_ENST00000323977.3_Missense_Mutation_p.L44V|MRE11A_ENST00000407439.3_Missense_Mutation_p.L47V	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	44					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GCAAGTCTTAAAATTTCATCG	0.333								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																							0													140	138	139					11																	94224022		2201	4298	6499	SO:0001583	missense	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.130T>G	chr11.hg19:g.94224022A>C	ENSP00000325863:p.Leu44Val		O43475	Missense_Mutation	SNP	ENST00000323929.3	hg19	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477531	0.63849	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241;ENST00000540013;ENST00000536754;ENST00000538923	D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.46	3.34	0.38264	Metallophosphoesterase domain (1);	0.075606	0.53938	D	0.000060	D	0.86674	0.5989	M	0.63843	1.955	0.54753	D	0.999985	D;D;D	0.58268	0.982;0.957;0.981	D;P;D	0.69654	0.965;0.904;0.925	D	0.85303	0.1074	10	0.46703	T	0.11	-6.346	7.1552	0.25632	0.7509:0.0:0.2491:0.0	.	47;44;44	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	V	44;47;44;44;44;44;44	ENSP00000325863:L44V;ENSP00000385614:L47V;ENSP00000326094:L44V;ENSP00000376933:L44V;ENSP00000440986:L44V;ENSP00000439511:L44V;ENSP00000442809:L44V	ENSP00000325863:L44V	L	-	1	2	MRE11A	93863670	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.003000	0.49505	1.651000	0.50673	0.379000	0.24179	TTA		0.333	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		C	94224022	A	C	94224022	3	2	298	1	0	0	0	0	1	0	0	0	9761	11	1	5	2068	5	MRE11A	11	94224022	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	11581095	94224022	40782494	67	17726											
DYNC2H1	79659	hgsc.bcm.edu	37	11	103124155	103124155	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:103124155C>T	ENST00000375735.2	+	66	10328	c.10184C>T	c.(10183-10185)aCa>aTa	p.T3395I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T3402I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3395	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTACTACAACAAGAAGTGGA	0.363																																																0													103	98	100					11																	103124155		1815	4086	5901	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10184C>T	chr11.hg19:g.103124155C>T	ENSP00000364887:p.Thr3395Ile		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945803	0.92593	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.29142	1.58;1.58	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.72771	0.3502	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.82168	-0.0591	10	0.87932	D	0	.	20.3334	0.98727	0.0:1.0:0.0:0.0	.	3395;3402	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	3395;3402	ENSP00000364887:T3395I;ENSP00000381167:T3402I	ENSP00000364887:T3395I	T	+	2	0	DYNC2H1	102629365	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.057000	0.71119	2.818000	0.97014	0.591000	0.81541	ACA		0.363	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103124155	C	T	103124155	3	4	298	1	0	0	0	0	1	0	0	0	4848	478	17	2	10471	2	DYNC2H1	11	103124155	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	8900133	103124155	31882361	68	17727											
IL10RA	3587	hgsc.bcm.edu	37	11	117869597	117869597	+	Silent	SNP	A	A	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:117869597A>T	ENST00000227752.3	+	7	1098	c.978A>T	c.(976-978)ccA>ccT	p.P326P	IL10RA_ENST00000541785.1_Silent_p.P306P|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Silent_p.P177P	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	326					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCACCAAGCCATCCCTGCAGA	0.612																																																0													89	75	80					11																	117869597		2200	4296	6496	SO:0001819	synonymous_variant	3587			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.978A>T	chr11.hg19:g.117869597A>T			A8K6I0|B0YJ27	Silent	SNP	ENST00000227752.3	hg19	CCDS8388.1																																																																																				0.612	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			T	117869597	A	T	117869597	2	4	298	1	0	0	0	0	0	0	0	1	7622	204	8	5		5	IL10RA	11	117869597	Silent	SNP	A	TCGA-B9-5155-01A-01D-1589-08	14745442	117869597	17136919	69	17728											
HSPA8	3312	hgsc.bcm.edu	37	11	122930940	122930940	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr11:122930940A>G	ENST00000532636.1	-	4	567	c.448T>C	c.(448-450)Ttt>Ctt	p.F150L	HSPA8_ENST00000227378.3_Missense_Mutation_p.F150L|HSPA8_ENST00000526110.1_Intron|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_5'UTR|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.F150L|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000533540.1_Intron|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.F150L			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	150					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GAGTCATTAAAGTAAGCTGGC	0.403																																					Colon(21;486 594 5900 6733 14272)											0													71	68	69					11																	122930940		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.448T>C	chr11.hg19:g.122930940A>G	ENSP00000437125:p.Phe150Leu		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	hg19	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939342	0.73557	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000528292;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182	T;T;T;T;T;T;T;T;T;T	0.01947	4.54;4.54;4.54;4.54;4.54;4.54;4.54;4.54;4.54;4.54	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	H	0.99783	4.775	0.80722	D	1	B;B;P;P;B	0.35923	0.014;0.106;0.528;0.472;0.106	B;B;B;B;B	0.35413	0.06;0.202;0.128;0.078;0.202	T	0.21348	-1.0248	10	0.72032	D	0.01	-23.667	14.7286	0.69362	1.0:0.0:0.0:0.0	.	150;150;150;150;150	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	L	150;150;150;150;90;109;150;150;150;150	ENSP00000437125:F150L;ENSP00000432083:F150L;ENSP00000404372:F150L;ENSP00000227378:F150L;ENSP00000432884:F90L;ENSP00000436762:F109L;ENSP00000435154:F150L;ENSP00000431641:F150L;ENSP00000436183:F150L;ENSP00000434415:F150L	ENSP00000227378:F150L	F	-	1	0	HSPA8	122436150	1.000000	0.71417	0.668000	0.29813	0.342000	0.28953	9.203000	0.95033	1.919000	0.55581	0.459000	0.35465	TTT		0.403	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			G	122930940	A	G	122930940	3	3	298	1	0	0	0	0	1	0	0	0	7418	72	3	3	1516	3	HSPA8	11	122930940	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	5061343	122930940	12075576	70	17729											
ERC1	23085	hgsc.bcm.edu	37	12	1219488	1219488	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr12:1219488G>A	ENST00000397203.2	+	5	1698	c.1292G>A	c.(1291-1293)aGc>aAc	p.S431N	ERC1_ENST00000355446.5_Missense_Mutation_p.S431N|ERC1_ENST00000546231.2_Missense_Mutation_p.S431N|ERC1_ENST00000589028.1_Missense_Mutation_p.S431N|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000543086.3_Missense_Mutation_p.S431N|ERC1_ENST00000360905.4_Missense_Mutation_p.S431N			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	431					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GTGTATCGGAGCCATTCTAAA	0.353																																																0													102	105	104					12																	1219488		2203	4300	6503	SO:0001583	missense	23085			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1292G>A	chr12.hg19:g.1219488G>A	ENSP00000380386:p.Ser431Asn		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	hg19	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931718	0.52866	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.93	5.93	0.95920	.	0.037884	0.85682	D	0.000000	T	0.43545	0.1252	L	0.28400	0.85	0.52099	D	0.999949	B;B;B;B;B	0.24721	0.016;0.032;0.027;0.035;0.11	B;B;B;B;B	0.33392	0.017;0.073;0.018;0.025;0.163	T	0.18935	-1.0321	10	0.20046	T	0.44	-11.7406	20.3938	0.98981	0.0:0.0:1.0:0.0	.	207;68;431;431;431	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	N	431;431;431;431;431;431;431;431;431;431;207;68	ENSP00000340054:S431N;ENSP00000380386:S431N;ENSP00000438546:S431N;ENSP00000445336:S431N;ENSP00000442739:S431N;ENSP00000347621:S431N;ENSP00000354158:S431N;ENSP00000410064:S431N	ENSP00000340054:S431N	S	+	2	0	ERC1	1089749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.536000	0.60636	2.831000	0.97527	0.585000	0.79938	AGC		0.353	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		A	1219488	G	A	1219488	3	1	298	1	0	0	0	0	1	0	0	0	5212	971	34	2	1306	2	ERC1	12	1219488	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08		1219488	132632407	71	17730											
CASC1	55259	hgsc.bcm.edu	37	12	25308273	25308273	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr12:25308273A>G	ENST00000320267.9	-	4	335	c.254T>C	c.(253-255)tTg>tCg	p.L85S	CASC1_ENST00000545133.1_Missense_Mutation_p.L26S|CASC1_ENST00000354189.5_Missense_Mutation_p.L149S|CASC1_ENST00000395990.2_Missense_Mutation_p.L45S|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.L91S	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	85	Glu-rich.									breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTCCTGTTTCAATTTCTCTGC	0.368																																																0													109	110	109					12																	25308273		2203	4296	6499	SO:0001583	missense	55259			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.254T>C	chr12.hg19:g.25308273A>G	ENSP00000313141:p.Leu85Ser		B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	hg19	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805347	0.31961	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000395992;ENST00000545133;ENST00000389246;ENST00000554347	T;T;T;T;T;T	0.26518	1.73;2.24;2.24;2.24;2.24;2.24	5.23	2.62	0.31277	.	0.255560	0.34223	N	0.004152	T	0.15912	0.0383	L	0.40543	1.245	0.80722	D	1	B;P;P;P	0.43352	0.418;0.804;0.483;0.763	B;B;B;B	0.38225	0.121;0.268;0.084;0.173	T	0.05068	-1.0908	10	0.25751	T	0.34	-7.1998	4.8547	0.13554	0.5806:0.2448:0.0:0.1745	.	26;149;85;91	F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;CASC1_HUMAN;.	S	149;91;85;45;91;26;45;45	ENSP00000346126:L149S;ENSP00000379310:L91S;ENSP00000313141:L85S;ENSP00000379313:L45S;ENSP00000437373:L26S;ENSP00000451232:L45S	ENSP00000313141:L85S	L	-	2	0	CASC1	25199540	1.000000	0.71417	0.706000	0.30403	0.919000	0.55068	2.273000	0.43381	0.896000	0.36366	0.523000	0.50628	TTG		0.368	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		G	25308273	A	G	25308273	3	3	298	1	0	0	0	0	1	0	0	0	2662	131	5	3	1944	3	CASC1	12	25308273	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	24088785	25308273	108543622	72	17731											
DIP2B	57609	hgsc.bcm.edu	37	12	51138542	51138542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr12:51138542G>T	ENST00000301180.5	+	38	4685	c.4651G>T	c.(4651-4653)Gga>Tga	p.G1551*	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1551						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAACTCCAGAGGAGAGAAGCA	0.537																																																0													138	112	121					12																	51138542		2203	4300	6503	SO:0001587	stop_gained	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4651G>T	chr12.hg19:g.51138542G>T	ENSP00000301180:p.Gly1551*		Q6B011|Q8N1L5|Q8NB38	Nonsense_Mutation	SNP	ENST00000301180.5	hg19	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	42	9.552953	0.99202	.	.	ENSG00000066084	ENST00000301180	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1606	19.7069	0.96076	0.0:0.0:1.0:0.0	.	.	.	.	X	1551	.	ENSP00000301180:G1551X	G	+	1	0	DIP2B	49424809	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.894000	0.99253	0.591000	0.81541	GGA		0.537	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		T	51138542	G	T	51138542	4	4	298	1	0	0	0	0	0	1	0	0	4530	1001	35	4	4801	4	DIP2B	12	51138542	Nonsense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	25830269	51138542	82713353	73	17732											
PARP4	143	hgsc.bcm.edu	37	13	25009395	25009395	+	Frame_Shift_Del	DEL	G	G	-	rs551694088		TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr13:25009395delG	ENST00000381989.3	-	31	3989	c.3884delC	c.(3883-3885)ccafs	p.P1295fs		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1295					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGTTGCTGTTGGTTTACATGA	0.428																																																0													100	104	103					13																	25009395		2203	4300	6503	SO:0001589	frameshift_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3884delC	chr13.hg19:g.25009395delG	ENSP00000371419:p.Pro1295fs		O75903|Q14682|Q5QNZ9|Q9H1M6	Frame_Shift_Del	DEL	ENST00000381989.3	hg19	CCDS9307.1																																																																																				0.428	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		-	25009395	G	-	25009395	7	5	298	1	0	1	0	1	0	0	0	0	11465	1348	47	0	1306	0	PARP4	13	25009395	Frame_Shift_Del	DEL	G	TCGA-B9-5155-01A-01D-1589-08		25009395	90160483	74	17733											
LRCH1	23143	hgsc.bcm.edu	37	13	47269134	47269134	+	Silent	SNP	G	G	A	rs201892262		TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr13:47269134G>A	ENST00000389798.3	+	9	1424	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	LRCH1_ENST00000311191.6_Silent_p.S409S|LRCH1_ENST00000389797.3_Silent_p.S409S	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	409										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GTCTCCATTCGGAATTTATGA	0.403																																																0								G	,,	0,4406		0,0,2203	153	161	158		1227,1227,1227	-10.2	0	13		158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LRCH1	NM_001164211.1,NM_001164213.1,NM_015116.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	409/764,409/697,409/729	47269134	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1227G>A	chr13.hg19:g.47269134G>A			B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	hg19	CCDS31972.1																																																																																				0.403	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		A	47269134	G	A	47269134	2	1	298	1	0	0	0	0	0	0	0	1	8934	1103	39	1		1	LRCH1	13	47269134	Silent	SNP	G	TCGA-B9-5155-01A-01D-1589-08	22259739	47269134	67900744	75	17734											
COCH	1690	hgsc.bcm.edu	37	14	31348144	31348144	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr14:31348144G>T	ENST00000396618.3	+	5	423	c.367G>T	c.(367-369)Gta>Tta	p.V123L	COCH_ENST00000216361.4_Missense_Mutation_p.V123L|COCH_ENST00000460581.2_Missense_Mutation_p.V11L|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.V123L|COCH_ENST00000382493.4_5'Flank	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	123					defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTCTTTCACAGTAACTAGTAG	0.403																																																0													153	144	147					14																	31348144		2203	4300	6503	SO:0001583	missense	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.367G>T	chr14.hg19:g.31348144G>T	ENSP00000379862:p.Val123Leu		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	hg19	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849750	0.51270	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908;ENST00000460581;ENST00000542225	D;D;D;D;T	0.88818	-2.43;-2.43;-2.43;-2.43;-0.19	5.87	4.97	0.65823	LCCL (2);	0.117297	0.56097	D	0.000021	T	0.81861	0.4912	L	0.27053	0.805	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.76735	-0.2850	10	0.42905	T	0.14	-12.1146	12.3896	0.55350	0.0779:0.0:0.9221:0.0	.	123;123	Q96IU6;O43405	.;COCH_HUMAN	L	123;123;123;107;11;11	ENSP00000216361:V123L;ENSP00000379862:V123L;ENSP00000451528:V123L;ENSP00000452541:V107L;ENSP00000451713:V11L	ENSP00000216361:V123L	V	+	1	0	COCH	30417895	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.223000	0.51231	2.785000	0.95823	0.655000	0.94253	GTA		0.403	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		T	31348144	G	T	31348144	3	4	298	1	0	0	0	0	1	0	0	0	3658	1029	36	4	381	4	COCH	14	31348144	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08		31348144	76001396	76	17735											
C14orf105	55195	hgsc.bcm.edu	37	14	57938247	57938247	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr14:57938247T>G	ENST00000216445.3	-	6	853	c.717A>C	c.(715-717)aaA>aaC	p.K239N	C14orf105_ENST00000422976.2_Missense_Mutation_p.K279N|C14orf105_ENST00000534126.1_Missense_Mutation_p.K238N	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	239										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TTTTGCCAATTTTCCAGGGAC	0.393																																																0													80	70	74					14																	57938247		2203	4300	6503	SO:0001583	missense	55195			AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.717A>C	chr14.hg19:g.57938247T>G	ENSP00000216445:p.Lys239Asn		Q53G04	Missense_Mutation	SNP	ENST00000216445.3	hg19	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914840	0.52546	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126	T;T;T	0.52057	0.68;0.68;0.68	5.29	2.57	0.30868	.	0.316033	0.28453	N	0.015295	T	0.48978	0.1530	M	0.63428	1.95	0.09310	N	0.999998	P;P;P;P	0.51351	0.703;0.703;0.944;0.944	B;B;P;P	0.52957	0.136;0.136;0.714;0.714	T	0.34825	-0.9813	10	0.40728	T	0.16	-18.2156	3.672	0.08277	0.0:0.1387:0.2192:0.6421	.	279;279;238;239	B7ZL43;F5GWJ3;E9PSE9;Q9NVL8	.;.;.;CN105_HUMAN	N	239;279;238	ENSP00000216445:K239N;ENSP00000392368:K279N;ENSP00000434003:K238N	ENSP00000216445:K239N	K	-	3	2	C14orf105	57008000	0.946000	0.32159	0.071000	0.20095	0.052000	0.14988	0.795000	0.26972	0.916000	0.36871	0.528000	0.53228	AAA		0.393	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		G	57938247	T	G	57938247	3	3	298	1	0	0	0	0	1	0	0	0	1739	1838	64	5	177	5	C14orf105	14	57938247	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08	26590103	57938247	49411293	77	17736											
DPF3	8110	hgsc.bcm.edu	37	14	73137911	73137911	+	Intron	SNP	G	G	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr14:73137911G>C	ENST00000556509.1	-	8	871				DPF3_ENST00000546183.1_Missense_Mutation_p.P346R|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_Missense_Mutation_p.P336R	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACAGGAGCGAGGCTCTTCCAA	0.572																																																0													68	73	71					14																	73137911		2163	4247	6410	SO:0001627	intron_variant	8110			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+3036C>G	chr14.hg19:g.73137911G>C			A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.64	3.667377	0.67814	.	.	ENSG00000205683	ENST00000541685;ENST00000546183	T;T	0.69926	-0.41;-0.44	5.79	5.79	0.91817	.	.	.	.	.	T	0.60130	0.2245	N	0.19112	0.55	0.32437	N	0.547203	P;P	0.43701	0.815;0.815	B;B	0.42522	0.39;0.39	T	0.69910	-0.5017	9	0.87932	D	0	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	346;336	F5H575;Q92784-2	.;.	R	336;346	ENSP00000441640:P336R;ENSP00000444662:P346R	ENSP00000381791:P391R	P	-	2	0	DPF3	72207664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.568000	0.60857	2.733000	0.93635	0.655000	0.94253	CCT		0.572	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			C	73137911	G	C	73137911	1	2	298	0	1	0	0	0	0	0	0	0	4720	1000	35	4		4	DPF3	14	73137911	Intron	SNP	G	TCGA-B9-5155-01A-01D-1589-08	15199664	73137911	34211629	78	17737											
SERPINA3	12	hgsc.bcm.edu	37	14	95081284	95081284	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr14:95081284A>G	ENST00000467132.1	+	2	1654	c.506A>G	c.(505-507)gAc>gGc	p.D169G	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_5'Flank|SERPINA3_ENST00000393080.4_Missense_Mutation_p.D169G|SERPINA3_ENST00000393078.3_Missense_Mutation_p.D169G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	169					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTTGCCACTGACTTTCAGGAC	0.502																																																0													92	86	88					14																	95081284		2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.506A>G	chr14.hg19:g.95081284A>G	ENSP00000450540:p.Asp169Gly		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	hg19	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.077587	0.55753	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.13	5.13	0.70059	Serpin domain (3);	0.523027	0.19106	N	0.122568	D	0.94568	0.8250	M	0.89287	3.02	0.45676	D	0.99859	D;D	0.63880	0.984;0.993	P;P	0.62089	0.896;0.898	D	0.95248	0.8357	10	0.72032	D	0.01	.	14.4161	0.67151	1.0:0.0:0.0:0.0	.	169;194	P01011;G3V5I3	AACT_HUMAN;.	G	194;169;169;169;169	ENSP00000452367:D194G;ENSP00000376793:D169G;ENSP00000376795:D169G;ENSP00000450540:D169G	ENSP00000376793:D169G	D	+	2	0	SERPINA3	94151037	0.969000	0.33509	0.201000	0.23476	0.040000	0.13550	3.607000	0.54102	2.046000	0.60703	0.459000	0.35465	GAC		0.502	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		G	95081284	A	G	95081284	3	3	298	1	0	0	0	0	1	0	0	0	14096	275	10	3	508	3	SERPINA3	14	95081284	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	21943373	95081284	12268256	79	17738											
JAG2	3714	hgsc.bcm.edu	37	14	105621904	105621904	+	Silent	SNP	C	C	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr14:105621904C>T	ENST00000331782.3	-	5	1186	c.783G>A	c.(781-783)gaG>gaA	p.E261E	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.E261E	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	261	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CTCACCTGCACTCCCCAGGCA	0.632																																																0													99	103	101					14																	105621904		2203	4300	6503	SO:0001819	synonymous_variant	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.783G>A	chr14.hg19:g.105621904C>T			Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	hg19	CCDS9998.1																																																																																				0.632	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			T	105621904	C	T	105621904	2	4	298	1	0	0	0	0	0	0	0	1	7937	564	20	2		2	JAG2	14	105621904	Silent	SNP	C	TCGA-B9-5155-01A-01D-1589-08	10540620	105621904	1727636	80	17739											
RAB8B	51762	hgsc.bcm.edu	37	15	63548782	63548782	+	Nonsense_Mutation	SNP	A	A	T	rs202115341		TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr15:63548782A>T	ENST00000321437.4	+	5	559	c.403A>T	c.(403-405)Aga>Tga	p.R135*	RAB8B_ENST00000448330.2_Nonsense_Mutation_p.R135*	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	135					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GTCAAAAGAAAGAGGGGAGAA	0.343																																																0													100	95	97					15																	63548782		2203	4300	6503	SO:0001587	stop_gained	51762			AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"RAB, member RAS oncogene"	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.403A>T	chr15.hg19:g.63548782A>T	ENSP00000312734:p.Arg135*		Q5JPC4|Q9P293	Nonsense_Mutation	SNP	ENST00000321437.4	hg19	CCDS10183.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996156	0.74703	.	.	ENSG00000166128	ENST00000321437;ENST00000448330	.	.	.	5.61	5.61	0.85477	.	0.079005	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	14.9901	0.71381	1.0:0.0:0.0:0.0	.	.	.	.	X	135	.	ENSP00000312734:R135X	R	+	1	2	RAB8B	61335835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.066000	0.71185	2.131000	0.65755	0.533000	0.62120	AGA		0.343	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	NM_016530		T	63548782	A	T	63548782	4	4	298	1	0	0	0	0	0	1	0	0	12963	64	3	5	421	5	RAB8B	15	63548782	Nonsense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08		63548782	38982610	81	17740											
HERC1	8925	hgsc.bcm.edu	37	15	63953965	63953965	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr15:63953965T>G	ENST00000443617.2	-	45	9244	c.9157A>C	c.(9157-9159)Aca>Cca	p.T3053P		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3053					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCAGAACTTGTTGACTTAGAT	0.448																																																0													158	146	150					15																	63953965		1961	4150	6111	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9157A>C	chr15.hg19:g.63953965T>G	ENSP00000390158:p.Thr3053Pro		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706292	0.30232	.	.	ENSG00000103657	ENST00000443617	T	0.24538	1.85	5.92	0.624	0.17659	.	0.249806	0.33631	U	0.004712	T	0.11024	0.0269	N	0.10809	0.05	0.41003	D	0.984949	B	0.02656	0.0	B	0.01281	0.0	T	0.09487	-1.0672	10	0.48119	T	0.1	.	5.1239	0.14875	0.1861:0.2447:0.0:0.5692	.	3053	Q15751	HERC1_HUMAN	P	3053	ENSP00000390158:T3053P	ENSP00000390158:T3053P	T	-	1	0	HERC1	61741018	0.938000	0.31826	0.970000	0.41538	0.987000	0.75469	1.624000	0.37018	0.136000	0.18733	0.528000	0.53228	ACA		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		G	63953965	T	G	63953965	3	3	298	1	0	0	0	0	1	0	0	0	7059	1725	60	5	5564	5	HERC1	15	63953965	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08	405183	63953965	38577427	82	17741											
BNC1	646	hgsc.bcm.edu	37	15	83935687	83935687	+	Silent	SNP	C	C	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr15:83935687C>A	ENST00000345382.2	-	3	421	c.336G>T	c.(334-336)ctG>ctT	p.L112L	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.L105L	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	112					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGAGCCGGTCCAGTAGGATTT	0.507																																																0													121	113	115					15																	83935687		2203	4300	6503	SO:0001819	synonymous_variant	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.336G>T	chr15.hg19:g.83935687C>A			Q15840	Silent	SNP	ENST00000345382.2	hg19	CCDS10324.1																																																																																				0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		A	83935687	C	A	83935687	2	1	298	1	0	0	0	0	0	0	0	1	1474	581	21	4		4	BNC1	15	83935687	Silent	SNP	C	TCGA-B9-5155-01A-01D-1589-08	19981722	83935687	18595705	83	17742											
MFGE8	4240	hgsc.bcm.edu	37	15	89449052	89449053	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr15:89449052_89449053insAA	ENST00000566497.1	-	5	681_682	c.620_621insTT	c.(619-621)ttgfs	p.L207fs	MFGE8_ENST00000539437.1_Frame_Shift_Ins_p.L199fs|MFGE8_ENST00000542878.1_Frame_Shift_Ins_p.L163fs|MFGE8_ENST00000268150.8_Frame_Shift_Ins_p.L207fs|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Frame_Shift_Ins_p.L207fs			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	207	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TCGTGGGGTACAATCTCACGTA	0.584																																																0																																										SO:0001589	frameshift_variant	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.619_620dupTT	chr15.hg19:g.89449053_89449054dupAA	ENSP00000456281:p.Leu207fs		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Frame_Shift_Ins	INS	ENST00000566497.1	hg19	CCDS10347.1																																																																																				0.584	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		AA	89449053	-	AA	89449052	7	5	298	1	0	1	1	0	0	0	0	0	9522	477	17	0	558	0	MFGE8	15	89449052	Frame_Shift_Ins	INS	-	TCGA-B9-5155-01A-01D-1589-08	5513365	89449052	13082340	84	17743											
LINS1	55180	hgsc.bcm.edu	37	15	101114203	101114205	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr15:101114203_101114205delTGA	ENST00000314742.8	-	5	1095_1097	c.873_875delTCA	c.(871-876)attcag>atg	p.291_292IQ>M	LINS_ENST00000560133.1_In_Frame_Del_p.172_173IQ>M|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_In_Frame_Del_p.291_292IQ>M	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	291										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AACAAAAGCCTGAATAGGCCAGG	0.429																																																0																																										SO:0001651	inframe_deletion	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.873_875delTCA	chr15.hg19:g.101114203_101114205delTGA	ENSP00000318423:p.Ile291_Gln292delinsMet		Q96FW2|Q9NVQ3	In_Frame_Del	DEL	ENST00000314742.8	hg19	CCDS10385.1																																																																																				0.429	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		-	101114205	TGA	-	101114203	7	5	298	1	0	1	0	1	0	0	0	0	8820	1580	55	0	1410	0	LINS1	15	101114203	In_Frame_Del	DEL	TGA	TCGA-B9-5155-01A-01D-1589-08	11665151	101114203	1417189	85	17744											
SMCR8	140775	hgsc.bcm.edu	37	17	18220177	18220177	+	Silent	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:18220177T>C	ENST00000406438.3	+	1	1554	c.1074T>C	c.(1072-1074)gaT>gaC	p.D358D	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	358						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTCAGATTGATAGAGCACTTC	0.443																																																0													93	90	91					17																	18220177		2203	4300	6503	SO:0001819	synonymous_variant	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1074T>C	chr17.hg19:g.18220177T>C			A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	hg19	CCDS11195.2																																																																																				0.443	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		C	18220177	T	C	18220177	2	2	298	1	0	0	0	0	0	0	0	1	14798	1403	49	3		3	SMCR8	17	18220177	Silent	SNP	T	TCGA-B9-5155-01A-01D-1589-08		18220177	62975033	86	17745											
KIAA0100	9703	hgsc.bcm.edu	37	17	26943748	26943748	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:26943748G>C	ENST00000528896.2	-	35	6119	c.6045C>G	c.(6043-6045)atC>atG	p.I2015M	SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.I1872M|RP11-192H23.4_ENST00000534850.1_5'Flank|SGK494_ENST00000469832.3_5'Flank|KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000389003.3_Missense_Mutation_p.I1872M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2015						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGTCAGCTGGATGGTGAGAG	0.418																																																0													91	90	90					17																	26943748		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6045C>G	chr17.hg19:g.26943748G>C	ENSP00000436773:p.Ile2015Met		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038680	0.55003	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.56611	0.45;0.45	5.87	4.9	0.64082	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	M	0.75615	2.305	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.74968	-0.3483	10	0.87932	D	0	.	12.8127	0.57649	0.1357:0.0:0.8643:0.0	.	2015	Q14667	K0100_HUMAN	M	2015;1985;2015;1872	ENSP00000436773:I2015M;ENSP00000446443:I1872M	ENSP00000005905:I2015M	I	-	3	3	KIAA0100	23967875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.779000	0.55379	1.482000	0.48325	0.561000	0.74099	ATC		0.418	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		C	26943748	G	C	26943748	3	2	298	1	0	0	0	0	1	0	0	0	8156	1164	41	4	682	4	KIAA0100	17	26943748	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	8723571	26943748	54251462	87	17746											
SSH2	85464	hgsc.bcm.edu	37	17	27959406	27959406	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:27959406C>G	ENST00000269033.3	-	15	2876	c.2725G>C	c.(2725-2727)Gca>Cca	p.A909P	SSH2_ENST00000540801.1_Missense_Mutation_p.A936P|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	909					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTTTTGGTGCTAGGTCTGCC	0.488																																																0													198	211	206					17																	27959406		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2725G>C	chr17.hg19:g.27959406C>G	ENSP00000269033:p.Ala909Pro		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	hg19	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535294	0.27475	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.10288	2.89;2.89	5.97	2.62	0.31277	.	1.241560	0.05233	N	0.510668	T	0.13415	0.0325	L	0.54323	1.7	0.09310	N	1	P;P	0.46220	0.874;0.8	P;B	0.44990	0.466;0.276	T	0.21075	-1.0256	10	0.34782	T	0.22	-0.0415	1.9181	0.03301	0.1384:0.4444:0.1353:0.2819	.	936;909	F5H527;Q76I76	.;SSH2_HUMAN	P	909;936	ENSP00000269033:A909P;ENSP00000444743:A936P	ENSP00000269033:A909P	A	-	1	0	SSH2	24983532	0.015000	0.18098	0.385000	0.26158	0.507000	0.33981	0.589000	0.23939	0.853000	0.35312	-0.245000	0.11935	GCA		0.488	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		G	27959406	C	G	27959406	3	3	298	1	0	0	0	0	1	0	0	0	15190	797	28	4	1550	4	SSH2	17	27959406	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	1015658	27959406	53235804	88	17747											
ZNF830	91603	hgsc.bcm.edu	37	17	33289325	33289325	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:33289325C>G	ENST00000361952.3	+	1	777	c.740C>G	c.(739-741)cCg>cGg	p.P247R	CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	247					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GAAGCGTTACCGGAAGGTTTT	0.463																																																0													60	58	59					17																	33289325		2203	4300	6503	SO:0001583	missense	91603			AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"orphan maintenance of genome 1"		"coiled-coil domain containing 16"	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.740C>G	chr17.hg19:g.33289325C>G	ENSP00000354518:p.Pro247Arg		Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	ENST00000361952.3	hg19	CCDS32618.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760549	0.69763	.	.	ENSG00000198783	ENST00000361952	D	0.83837	-1.77	5.98	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.91233	0.7237	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92053	0.5650	10	0.72032	D	0.01	-15.6542	11.0329	0.47783	0.0:0.9152:0.0:0.0848	.	247	Q96NB3	ZN830_HUMAN	R	247	ENSP00000354518:P247R	ENSP00000354518:P247R	P	+	2	0	ZNF830	30313438	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	6.618000	0.74214	1.552000	0.49463	0.591000	0.81541	CCG		0.463	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		G	33289325	C	G	33289325	3	3	298	1	0	0	0	0	1	0	0	0	18189	652	23	4	742	4	ZNF830	17	33289325	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	5329919	33289325	47905885	89	17748											
LIG3	3980	hgsc.bcm.edu	37	17	33310454	33310454	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:33310454T>C	ENST00000378526.4	+	2	563	c.430T>C	c.(430-432)Ttt>Ctt	p.F144L	LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Missense_Mutation_p.F144L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	144					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TAAATGCATGTTTGAGAAACT	0.488								Other BER factors																																								0													51	50	50					17																	33310454		2203	4300	6503	SO:0001583	missense	3980				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.430T>C	chr17.hg19:g.33310454T>C	ENSP00000367787:p.Phe144Leu		Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	hg19	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	T	35	5.433129	0.96150	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.28255	1.62;1.62	5.84	5.84	0.93424	Zinc finger, PARP-type (3);	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.62209	1.925	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.989;1.0	D;D;D;D	0.97110	0.99;0.99;0.984;1.0	T	0.55768	-0.8089	10	0.72032	D	0.01	-10.3188	15.397	0.74805	0.0:0.0:0.0:1.0	.	144;144;144;144	E5KLB5;P49916;E5KLB6;Q96DF0	.;DNLI3_HUMAN;.;.	L	144	ENSP00000367787:F144L;ENSP00000262327:F144L	ENSP00000262327:F144L	F	+	1	0	LIG3	30334567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.845000	0.86875	2.243000	0.73865	0.533000	0.62120	TTT		0.488	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		C	33310454	T	C	33310454	3	2	298	1	0	0	0	0	1	0	0	0	8784	1725	60	3	432	3	LIG3	17	33310454	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08	21129	33310454	47884756	90	17749											
AMAC1	146861	hgsc.bcm.edu	37	17	33520712	33520712	+	Silent	SNP	C	C	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr17:33520712C>T	ENST00000297307.5	-	1	700	c.615G>A	c.(613-615)ctG>ctA	p.L205L	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	205						integral component of membrane (GO:0016021)											CCAGAAGCCTCAGGGACAGCG	0.627																																																0													91	98	96					17																	33520712		2203	4300	6503	SO:0001819	synonymous_variant	146861			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.615G>A	chr17.hg19:g.33520712C>T			B9EGE9	Silent	SNP	ENST00000297307.5	hg19	CCDS11293.1																																																																																				0.627	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		T	33520712	C	T	33520712	2	4	298	1	0	0	0	0	0	0	0	1	559	813	29	2		2	AMAC1	17	33520712	Silent	SNP	C	TCGA-B9-5155-01A-01D-1589-08	210258	33520712	47674498	91	17750											
STK11	6794	hgsc.bcm.edu	37	19	1220439	1220439	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:1220439A>T	ENST00000326873.7	+	4	1705	c.532A>T	c.(532-534)Aag>Tag	p.K178*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.K178fs*86(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGACATCAAGCCGGGGAA	0.662		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	29	Whole gene deletion(20)|Deletion - Frameshift(5)|Unknown(4)	cervix(15)|lung(9)|oesophagus(1)|ovary(1)|prostate(1)|kidney(1)|pancreas(1)											44	52	49					19																	1220439		2098	4239	6337	SO:0001587	stop_gained	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.532A>T	chr19.hg19:g.1220439A>T	ENSP00000324856:p.Lys178*		B2RBX7|E7EW76	Nonsense_Mutation	SNP	ENST00000326873.7	hg19	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	A	47	13.228355	0.99728	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-49.8258	14.9586	0.71138	1.0:0.0:0.0:0.0	.	.	.	.	X	178	.	ENSP00000324856:K178X	K	+	1	0	STK11	1171439	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	9.209000	0.95087	2.135000	0.66039	0.459000	0.35465	AAG		0.662	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		T	1220439	A	T	1220439	4	4	298	1	0	0	0	0	0	1	0	0	15292	131	5	5	546	5	STK11	19	1220439	Nonsense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08		1220439	57908544	92	17751											
EPS15L1	58513	hgsc.bcm.edu	37	19	16513268	16513268	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:16513268T>C	ENST00000248070.6	-	16	1794	c.1655A>G	c.(1654-1656)gAa>gGa	p.E552G	EPS15L1_ENST00000594975.1_Missense_Mutation_p.E552G|EPS15L1_ENST00000455140.2_Missense_Mutation_p.E552G|EPS15L1_ENST00000597937.1_Missense_Mutation_p.E552G|EPS15L1_ENST00000602009.1_Missense_Mutation_p.E398G|EPS15L1_ENST00000535753.2_Missense_Mutation_p.E552G	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	552					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTGGCGGCTTTCATGCAGCTG	0.537																																																0													56	56	56					19																	16513268		2203	4300	6503	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1655A>G	chr19.hg19:g.16513268T>C	ENSP00000248070:p.Glu552Gly		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	hg19	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595745	0.86953	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	D;T;T	0.87966	-2.32;1.65;1.24	5.5	5.5	0.81552	.	0.053238	0.64402	D	0.000001	D	0.89093	0.6617	L	0.52011	1.625	0.58432	D	0.999994	D;D;P;P;P;P	0.62365	0.991;0.975;0.952;0.952;0.955;0.913	P;P;P;P;P;P	0.58970	0.849;0.77;0.606;0.606;0.606;0.702	D	0.87153	0.2210	10	0.27785	T	0.31	.	12.9903	0.58614	0.0:0.0:0.0:1.0	.	552;552;551;552;552;552	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	G	552	ENSP00000393313:E552G;ENSP00000248070:E552G;ENSP00000440103:E552G	ENSP00000248070:E552G	E	-	2	0	EPS15L1	16374268	1.000000	0.71417	0.763000	0.31416	0.892000	0.51952	7.218000	0.77991	2.096000	0.63516	0.533000	0.62120	GAA		0.537	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		C	16513268	T	C	16513268	3	2	298	1	0	0	0	0	1	0	0	0	5195	1783	62	3	971	3	EPS15L1	19	16513268	Missense_Mutation	SNP	T	TCGA-B9-5155-01A-01D-1589-08	15292829	16513268	42615715	93	17752											
ZNF676	163223	hgsc.bcm.edu	37	19	22363129	22363129	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:22363129A>C	ENST00000397121.2	-	3	1707	c.1390T>G	c.(1390-1392)Ttt>Gtt	p.F464V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGTTTAGTAAAGCTTGAGGAC	0.413																																																0													126	131	129					19																	22363129		2157	4266	6423	SO:0001583	missense	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1390T>G	chr19.hg19:g.22363129A>C	ENSP00000380310:p.Phe464Val		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	hg19	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	2.545	-0.305325	0.05495	.	.	ENSG00000196109	ENST00000397121	T	0.18338	2.22	0.149	-0.298	0.12814	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07908	0.0198	N	0.11673	0.155	0.09310	N	1	B	0.27951	0.195	B	0.24394	0.053	T	0.27262	-1.0079	9	0.72032	D	0.01	.	4.6797	0.12729	0.3583:0.0:0.6417:0.0	.	464	Q8N7Q3	ZN676_HUMAN	V	464	ENSP00000380310:F464V	ENSP00000380310:F464V	F	-	1	0	ZNF676	22154969	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	-1.346000	0.02211	-1.381000	0.01174	TTT		0.413	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		C	22363129	A	C	22363129	3	2	298	1	0	0	0	0	1	0	0	0	18088	72	3	5	380	5	ZNF676	19	22363129	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	5849861	22363129	36765854	94	17753											
ZNF416	55659	hgsc.bcm.edu	37	19	58083736	58083736	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:58083736G>C	ENST00000196489.3	-	4	1758	c.1536C>G	c.(1534-1536)caC>caG	p.H512Q		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GAATTTTCTGGTGTTCAACGA	0.438																																																0													99	99	99					19																	58083736		2203	4300	6503	SO:0001583	missense	55659			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1536C>G	chr19.hg19:g.58083736G>C	ENSP00000196489:p.His512Gln		Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	hg19	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017774	0.75161	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	D	0.86865	-2.18	3.58	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93776	0.8010	M	0.93808	3.46	0.29684	N	0.841443	D	0.89917	1.0	D	0.91635	0.999	D	0.86737	0.1952	9	0.72032	D	0.01	.	6.7993	0.23742	0.3194:0.0:0.6806:0.0	.	512	Q9BWM5	ZN416_HUMAN	Q	512;415;410	ENSP00000196489:H512Q	ENSP00000196489:H512Q	H	-	3	2	ZNF416	62775548	0.022000	0.18835	0.039000	0.18376	0.939000	0.58152	0.165000	0.16564	0.838000	0.34948	0.655000	0.94253	CAC		0.438	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		C	58083736	G	C	58083736	3	2	298	1	0	0	0	0	1	0	0	0	17898	1252	44	4	252	4	ZNF416	19	58083736	Missense_Mutation	SNP	G	TCGA-B9-5155-01A-01D-1589-08	35720607	58083736	1045247	95	17754			1	29		2	2	30	N	G_A	9.554818e-05
ZNF416	55659	hgsc.bcm.edu	37	19	58083765	58083765	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr19:58083765A>G	ENST00000196489.3	-	4	1729	c.1507T>C	c.(1507-1509)Ttt>Ctt	p.F503L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTTTGTCTAAAAAATTTCCCA	0.418																																																0													80	81	81					19																	58083765		2203	4300	6503	SO:0001583	missense	55659			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1507T>C	chr19.hg19:g.58083765A>G	ENSP00000196489:p.Phe503Leu		Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	hg19	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	A	35	5.419811	0.96111	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.46063	0.88	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64594	0.2612	M	0.82517	2.595	0.41420	D	0.987799	D	0.89917	1.0	D	0.91635	0.999	T	0.70605	-0.4826	9	0.87932	D	0	.	11.3666	0.49675	1.0:0.0:0.0:0.0	.	503	Q9BWM5	ZN416_HUMAN	L	503;406;401	ENSP00000196489:F503L	ENSP00000196489:F503L	F	-	1	0	ZNF416	62775577	1.000000	0.71417	0.060000	0.19600	0.888000	0.51559	5.931000	0.70113	1.577000	0.49804	0.533000	0.62120	TTT		0.418	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		G	58083765	A	G	58083765	3	3	298	1	0	0	0	0	1	0	0	0	17898	14	1	3	281	3	ZNF416	19	58083765	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08	29	58083765	1045218	96	17755			1	29		2	2	30	N	G_A	9.554818e-05
REM1	28954	hgsc.bcm.edu	37	20	30064536	30064536	+	Silent	SNP	G	G	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr20:30064536G>A	ENST00000201979.2	+	2	581	c.288G>A	c.(286-288)ttG>ttA	p.L96L	DEFB124_ENST00000481595.1_5'UTR	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	96					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACCAGCTTGGCCAGCCTCT	0.582																																																0													41	38	39					20																	30064536		2203	4300	6503	SO:0001819	synonymous_variant	28954			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.288G>A	chr20.hg19:g.30064536G>A			E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	hg19	CCDS13181.1																																																																																				0.582	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		A	30064536	G	A	30064536	2	1	298	1	0	0	0	0	0	0	0	1	13228	1339	47	2		2	REM1	20	30064536	Silent	SNP	G	TCGA-B9-5155-01A-01D-1589-08		30064536	32960984	97	17756											
PIGU	128869	hgsc.bcm.edu	37	20	33163023	33163023	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr20:33163023C>T	ENST00000374820.2	-	10	1039	c.1019G>A	c.(1018-1020)tGc>tAc	p.C340Y	PIGU_ENST00000452740.2_Missense_Mutation_p.C360Y			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	360					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GATGATGATGCAGGTGAGGAC	0.512																																																0													181	141	155					20																	33163023		2203	4300	6503	SO:0001583	missense	128869			AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"Phosphatidylinositol glycan anchor biosynthesis"	15791	protein-coding gene	gene with protein product	"GPI transamidase subunit"	608528	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.1019G>A	chr20.hg19:g.33163023C>T	ENSP00000363953:p.Cys340Tyr		Q7Z489|Q8N2F2	Missense_Mutation	SNP	ENST00000374820.2	hg19		.	.	.	.	.	.	.	.	.	.	C	24.8	4.572584	0.86542	.	.	ENSG00000101464	ENST00000217446;ENST00000374820;ENST00000452740;ENST00000438215	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.87578	0.998;0.991;0.995	T	0.70121	-0.4959	9	0.09084	T	0.74	-16.1694	19.1929	0.93674	0.0:1.0:0.0:0.0	.	360;340;360	E7EVL4;Q9H490-2;Q9H490	.;.;PIGU_HUMAN	Y	360;340;360;106	.	ENSP00000217446:C360Y	C	-	2	0	PIGU	32626684	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.845000	0.69437	2.711000	0.92665	0.655000	0.94253	TGC		0.512	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476		T	33163023	C	T	33163023	3	4	298	1	0	0	0	0	1	0	0	0	11902	710	25	2	236	2	PIGU	20	33163023	Missense_Mutation	SNP	C	TCGA-B9-5155-01A-01D-1589-08	3098487	33163023	29862497	98	17757											
TSHZ2	128553	hgsc.bcm.edu	37	20	51871026	51871026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr20:51871026delT	ENST00000371497.5	+	2	1916	c.1029delT	c.(1027-1029)tctfs	p.S343fs	TSHZ2_ENST00000603338.2_Frame_Shift_Del_p.S340fs|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Frame_Shift_Del_p.S340fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	343					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTGCAGATTCTTTTTCTTCTC	0.493																																																0													78	86	83					20																	51871026		2203	4300	6503	SO:0001589	frameshift_variant	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1029delT	chr20.hg19:g.51871026delT	ENSP00000360552:p.Ser343fs		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Frame_Shift_Del	DEL	ENST00000371497.5	hg19	CCDS33490.1																																																																																				0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		-	51871026	T	-	51871026	7	5	298	1	0	1	0	1	0	0	0	0	16629	1596	56	0	1035	0	TSHZ2	20	51871026	Frame_Shift_Del	DEL	T	TCGA-B9-5155-01A-01D-1589-08	18708003	51871026	11154494	99	17758											
CSTF1	1477	hgsc.bcm.edu	37	20	54974310	54974310	+	Silent	SNP	T	T	A			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr20:54974310T>A	ENST00000217109.4	+	5	1285	c.933T>A	c.(931-933)tcT>tcA	p.S311S	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	311					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AAGTTTGTTCTGCCATTTTTT	0.398																																																0													123	113	117					20																	54974310		2203	4300	6503	SO:0001819	synonymous_variant	1477				CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.933T>A	chr20.hg19:g.54974310T>A			Q5QPD8	Silent	SNP	ENST00000217109.4	hg19	CCDS13452.1																																																																																				0.398	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		A	54974310	T	A	54974310	2	1	298	1	0	0	0	0	0	0	0	1	3985	1567	55	5		5	CSTF1	20	54974310	Silent	SNP	T	TCGA-B9-5155-01A-01D-1589-08	3103284	54974310	8051210	100	17759											
KCNJ15	3772	hgsc.bcm.edu	37	21	39671714	39671714	+	Silent	SNP	C	C	T			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr21:39671714C>T	ENST00000328656.4	+	4	834	c.531C>T	c.(529-531)acC>acT	p.T177T	KCNJ15_ENST00000398938.2_Silent_p.T177T|KCNJ15_ENST00000398930.1_Silent_p.T177T|KCNJ15_ENST00000398934.1_Silent_p.T177T|KCNJ15_ENST00000398932.1_Silent_p.T177T	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	177					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	GGGCTGAGACCATCAAGTTCA	0.507																																																0													65	62	63					21																	39671714		2203	4300	6503	SO:0001819	synonymous_variant	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.531C>T	chr21.hg19:g.39671714C>T			D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	hg19	CCDS13656.1																																																																																				0.507	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		T	39671714	C	T	39671714	2	4	298	1	0	0	0	0	0	0	0	1	8051	581	21	2		2	KCNJ15	21	39671714	Silent	SNP	C	TCGA-B9-5155-01A-01D-1589-08		39671714	8458181	101	17760											
CCDC157	550631	hgsc.bcm.edu	37	22	30771620	30771620	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5155-01A-01D-1589-08	TCGA-B9-5155-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9ca1b195-86fe-4597-933d-93903a61f676	d8826711-1c53-40c3-b444-2c9614f49b6f	g.chr22:30771620A>G	ENST00000405659.1	+	10	2534	c.1825A>G	c.(1825-1827)Atc>Gtc	p.I609V	CCDC157_ENST00000338306.3_Missense_Mutation_p.I609V|RP1-130H16.16_ENST00000332468.4_RNA			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	609										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GCTGTCCAAAATCCGGGAAGT	0.612																																																0													49	47	48					22																	30771620		2203	4300	6503	SO:0001583	missense	550631			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1825A>G	chr22.hg19:g.30771620A>G	ENSP00000385357:p.Ile609Val		Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	hg19	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	A	15.73	2.921236	0.52653	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.77098	-1.07;-1.07	5.24	2.99	0.34606	.	0.148034	0.46145	D	0.000309	T	0.59851	0.2224	L	0.41236	1.265	0.80722	D	1	P	0.37731	0.607	B	0.30782	0.12	T	0.56547	-0.7961	10	0.26408	T	0.33	-23.0767	5.0133	0.14324	0.6607:0.1879:0.1514:0.0	.	609	Q569K6	CC157_HUMAN	V	609	ENSP00000385357:I609V;ENSP00000343087:I609V	ENSP00000343087:I609V	I	+	1	0	CCDC157	29101620	0.715000	0.27946	0.993000	0.49108	0.936000	0.57629	0.528000	0.23002	1.981000	0.57761	0.533000	0.62120	ATC		0.612	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		G	30771620	A	G	30771620	3	3	298	1	0	0	0	0	1	0	0	0	2791	101	4	3	1855	3	CCDC157	22	30771620	Missense_Mutation	SNP	A	TCGA-B9-5155-01A-01D-1589-08		30771620	20532946	102	17761											
TAS1R2	80834	hgsc.bcm.edu	37	1	19166252	19166252	+	Silent	SNP	C	C	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr1:19166252C>G	ENST00000375371.3	-	6	2382	c.2361G>C	c.(2359-2361)ctG>ctC	p.L787L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	787					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGATGGTGACCAGCACCCCGC	0.567																																																0													125	94	105					1																	19166252		2203	4300	6503	SO:0001819	synonymous_variant	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2361G>C	chr1.hg19:g.19166252C>G			Q5TZ19	Silent	SNP	ENST00000375371.3	hg19	CCDS187.1																																																																																				0.567	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			G	19166252	C	G	19166252	2	3	299	1	0	0	0	0	0	0	0	1	15568	581	21	4		4	TAS1R2	1	19166252	Silent	SNP	C	TCGA-B9-5156-01A-01D-1589-08		19166252	230084369	1	17762											
EIF2C1	26523	hgsc.bcm.edu	37	1	36354062	36354062	+	Silent	SNP	G	G	A	rs79428335		TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr1:36354062G>A	ENST00000373204.4	+	2	273	c.60G>A	c.(58-60)gtG>gtA	p.V20V	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	20					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TGCAGCAGGTGTTCCAGGCAC	0.562																																																0													73	70	71					1																	36354062		2203	4300	6503	SO:0001819	synonymous_variant	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.60G>A	chr1.hg19:g.36354062G>A			Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	hg19	CCDS398.1																																																																																				0.562	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			A	36354062	G	A	36354062	2	1	299	1	0	0	0	0	0	0	0	1	5007	1364	48	2		2	EIF2C1	1	36354062	Silent	SNP	G	TCGA-B9-5156-01A-01D-1589-08	17187810	36354062	212896559	2	17763											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144915498	144915498	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr1:144915498delT	ENST00000369354.3	-	14	2116	c.1927delA	c.(1927-1929)atgfs	p.M643fs	PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.M709fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.M780fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.M780fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Del_p.M806fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.M643fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Del_p.M430fs|PDE4DIP_ENST00000529945.1_Frame_Shift_Del_p.M806fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.M643fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.M643fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	643				M -> V (in Ref. 4; CAD91152). {ECO:0000305}.	cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAATCTCCATTTCATGTTCC	0.468			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													319	290	300					1																	144915498		2203	4296	6499	SO:0001589	frameshift_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1927delA	chr1.hg19:g.144915498delT	ENSP00000358360:p.Met643fs		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000369354.3	hg19	CCDS30824.1																																																																																				0.468	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		-	144915498	T	-	144915498	7	5	299	1	0	1	0	1	0	0	0	0	11645	1493	52	0	5247	0	PDE4DIP	1	144915498	Frame_Shift_Del	DEL	T	TCGA-B9-5156-01A-01D-1589-08	108561436	144915498	104335123	3	17764											
RPRD2	23248	hgsc.bcm.edu	37	1	150390094	150390094	+	Silent	SNP	T	T	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr1:150390094T>C	ENST00000369068.4	+	2	232	c.228T>C	c.(226-228)aaT>aaC	p.N76N	RPRD2_ENST00000539519.1_Silent_p.N76N|RPRD2_ENST00000369067.3_Silent_p.N76N|RPRD2_ENST00000401000.4_Silent_p.N76N|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	76	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACCGTTTGAATCTCTTTTACC	0.363																																																0													231	217	221					1																	150390094		1865	4102	5967	SO:0001819	synonymous_variant	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.228T>C	chr1.hg19:g.150390094T>C			A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	hg19	CCDS44216.1																																																																																				0.363	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		C	150390094	T	C	150390094	2	2	299	1	0	0	0	0	0	0	0	1	13623	1432	50	3		3	RPRD2	1	150390094	Silent	SNP	T	TCGA-B9-5156-01A-01D-1589-08	5474596	150390094	98860527	4	17765											
SLC9A11	284525	hgsc.bcm.edu	37	1	173545857	173545857	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr1:173545857A>G	ENST00000367714.3	-	8	1267	c.845T>C	c.(844-846)gTa>gCa	p.V282A	SLC9C2_ENST00000536496.1_Missense_Mutation_p.V180A|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	282					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ATTCAGTCCTACAGCGGCTAA	0.368																																																0													68	68	68					1																	173545857		2203	4300	6503	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.845T>C	chr1.hg19:g.173545857A>G	ENSP00000356687:p.Val282Ala		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	hg19	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.285972	0.40394	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06687	3.27;3.27	5.48	4.36	0.52297	Cation/H+ exchanger (1);	0.426381	0.19800	N	0.105771	T	0.02727	0.0082	L	0.50333	1.59	0.09310	N	1	B	0.18166	0.026	B	0.23275	0.045	T	0.42548	-0.9445	10	0.23302	T	0.38	-14.6781	8.1183	0.30957	0.9095:0.0:0.0905:0.0	.	282	Q5TAH2	S9A11_HUMAN	A	282;180	ENSP00000356687:V282A;ENSP00000445437:V180A	ENSP00000356687:V282A	V	-	2	0	SLC9A11	171812480	0.049000	0.20398	0.097000	0.21041	0.518000	0.34316	4.102000	0.57776	0.925000	0.37094	-0.250000	0.11733	GTA		0.368	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		G	173545857	A	G	173545857	3	3	299	1	0	0	0	0	1	0	0	0	14717	391	14	3	2613	3	SLC9A11	1	173545857	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08	23155763	173545857	75704764	5	17766											
HMCN1	83872	hgsc.bcm.edu	37	1	186158954	186158954	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr1:186158954A>G	ENST00000271588.4	+	107	17081	c.16852A>G	c.(16852-16854)Att>Gtt	p.I5618V	HMCN1_ENST00000367492.2_Missense_Mutation_p.I5501V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5618					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAATGGGACCATTGAATATCA	0.448																																																0													122	111	115					1																	186158954		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16852A>G	chr1.hg19:g.186158954A>G	ENSP00000271588:p.Ile5618Val		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	5.555	0.287307	0.10513	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.62364	0.03;0.03	5.91	-0.414	0.12359	.	0.153154	0.56097	N	0.000026	T	0.40670	0.1126	N	0.20986	0.625	0.23896	N	0.996533	B	0.06786	0.001	B	0.06405	0.002	T	0.20538	-1.0272	10	0.45353	T	0.12	.	6.395	0.21607	0.5367:0.2325:0.2308:0.0	.	5618	Q96RW7	HMCN1_HUMAN	V	5618;5501	ENSP00000271588:I5618V;ENSP00000356462:I5501V	ENSP00000271588:I5618V	I	+	1	0	HMCN1	184425577	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	2.129000	0.42055	-0.086000	0.12550	0.533000	0.62120	ATT		0.448	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186158954	A	G	186158954	3	3	299	1	0	0	0	0	1	0	0	0	7222	217	8	3	17278	3	HMCN1	1	186158954	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08	12613097	186158954	63091667	6	17767											
LRRN2	10446	hgsc.bcm.edu	37	1	204588079	204588079	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr1:204588079T>C	ENST00000367175.1	-	1	3254	c.1042A>G	c.(1042-1044)Agt>Ggt	p.S348G	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Missense_Mutation_p.S348G|LRRN2_ENST00000367176.3_Missense_Mutation_p.S348G			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	348					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGCAAGGCACTGAGAGCGTTG	0.617																																																0													66	59	62					1																	204588079		2203	4300	6503	SO:0001583	missense	10446			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1042A>G	chr1.hg19:g.204588079T>C	ENSP00000356143:p.Ser348Gly		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	hg19	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.988226	0.53934	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.58797	0.31;0.31;0.31	5.69	5.69	0.88448	.	0.000000	0.50627	D	0.000109	T	0.74030	0.3663	M	0.68952	2.095	0.49213	D	0.999765	D	0.76494	0.999	D	0.74023	0.982	T	0.76394	-0.2975	10	0.62326	D	0.03	.	15.6141	0.76750	0.0:0.0:0.0:1.0	.	348	O75325	LRRN2_HUMAN	G	348	ENSP00000356144:S348G;ENSP00000356145:S348G;ENSP00000356143:S348G	ENSP00000356143:S348G	S	-	1	0	LRRN2	202854702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.287000	0.72671	2.171000	0.68590	0.460000	0.39030	AGT		0.617	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		C	204588079	T	C	204588079	3	2	299	1	0	0	0	0	1	0	0	0	9037	1580	55	3	1103	3	LRRN2	1	204588079	Missense_Mutation	SNP	T	TCGA-B9-5156-01A-01D-1589-08	18429125	204588079	44662542	7	17768											
URB2	9816	hgsc.bcm.edu	37	1	229771856	229771856	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr1:229771856C>T	ENST00000258243.2	+	4	1632	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	499						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S499F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACGGTACTCTCTGCATGCCTC	0.577																																																1	Substitution - Missense(1)	lung(1)											113	118	116					1																	229771856		2203	4300	6503	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1496C>T	chr1.hg19:g.229771856C>T	ENSP00000258243:p.Ser499Phe		Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	hg19	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	4.911	0.169357	0.09339	.	.	ENSG00000135763	ENST00000258243	T	0.33216	1.42	5.35	0.996	0.19844	.	1.134710	0.06163	N	0.676348	T	0.23094	0.0558	L	0.34521	1.04	0.09310	N	1	B	0.33448	0.412	B	0.27887	0.084	T	0.24261	-1.0165	9	.	.	.	0.0631	11.0794	0.48051	0.0671:0.3671:0.5657:0.0	.	499	Q14146	URB2_HUMAN	F	499	ENSP00000258243:S499F	.	S	+	2	0	URB2	227838479	0.357000	0.24938	0.001000	0.08648	0.004000	0.04260	1.775000	0.38584	0.327000	0.23409	-0.153000	0.13522	TCT		0.577	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		T	229771856	C	T	229771856	3	4	299	1	0	0	0	0	1	0	0	0	17030	913	32	2	1506	2	URB2	1	229771856	Missense_Mutation	SNP	C	TCGA-B9-5156-01A-01D-1589-08	25183777	229771856	19478765	8	17769											
CPSF3	51692	hgsc.bcm.edu	37	2	9570989	9570994	+	In_Frame_Del	DEL	TTCTGA	TTCTGA	-			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	TTCTGA	TTCTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr2:9570989_9570994delTTCTGA	ENST00000238112.3	+	4	527_532	c.321_326delTTCTGA	c.(319-327)ctttctgat>ctt	p.SD108del	CPSF3_ENST00000460593.1_In_Frame_Del_p.SD71del	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	108					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GATGGCTTCTTTCTGATTATGTCAAA	0.35																																					Colon(194;1259 2048 3845 5218 19985)											0																																										SO:0001651	inframe_deletion	51692			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.321_326delTTCTGA	chr2.hg19:g.9570989_9570994delTTCTGA	ENSP00000238112:p.Ser108_Asp109del		O14769|Q53RS2|Q96F36	In_Frame_Del	DEL	ENST00000238112.3	hg19	CCDS1664.1																																																																																				0.35	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		-	9570994	TTCTGA	-	9570989	7	5	299	1	0	1	0	1	0	0	0	0	3828	1828	64	0	335	0	CPSF3	2	9570989	In_Frame_Del	DEL	TTCTGA	TCGA-B9-5156-01A-01D-1589-08		9570989	233628384	9	17770											
SLC3A1	6519	hgsc.bcm.edu	37	2	44507998	44507998	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr2:44507998G>T	ENST00000260649.6	+	2	650	c.574G>T	c.(574-576)Gat>Tat	p.D192Y	SLC3A1_ENST00000409229.3_Missense_Mutation_p.D192Y|SLC3A1_ENST00000410056.3_Missense_Mutation_p.D192Y|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D192Y|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D192Y	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	192					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AACGATGGAAGATTTTGAGAA	0.373																																																0													111	107	108					2																	44507998		2203	4300	6503	SO:0001583	missense	6519				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.574G>T	chr2.hg19:g.44507998G>T	ENSP00000260649:p.Asp192Tyr		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	hg19	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.563097	0.65538	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99758	-6.65;-6.65;-5.38;-6.65;-6.65	4.74	3.86	0.44501	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.054412	0.64402	D	0.000001	D	0.99862	0.9935	H	0.98256	4.185	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.995;0.995;0.995;0.988;0.984	D	0.96726	0.9536	10	0.87932	D	0	-14.6276	13.4464	0.61144	0.0768:0.0:0.9232:0.0	.	192;192;192;192;192	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	Y	192;192;128;192;192;192;192	ENSP00000260649:D192Y;ENSP00000387308:D192Y;ENSP00000387337:D192Y;ENSP00000386954:D192Y;ENSP00000386620:D192Y	ENSP00000260649:D192Y	D	+	1	0	SLC3A1	44361502	1.000000	0.71417	0.989000	0.46669	0.730000	0.41778	7.381000	0.79718	1.110000	0.41699	0.655000	0.94253	GAT		0.373	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		T	44507998	G	T	44507998	3	4	299	1	0	0	0	0	1	0	0	0	14632	942	33	4	580	4	SLC3A1	2	44507998	Missense_Mutation	SNP	G	TCGA-B9-5156-01A-01D-1589-08	34937009	44507998	198691375	10	17771											
PNPT1	87178	hgsc.bcm.edu	37	2	55908004	55908004	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr2:55908004A>G	ENST00000447944.2	-	6	589	c.503T>C	c.(502-504)cTa>cCa	p.L168P		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	168					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATTAATTGCTAGGACATCAGG	0.313																																																0													57	60	59					2																	55908004		2203	4299	6502	SO:0001583	missense	87178			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.503T>C	chr2.hg19:g.55908004A>G	ENSP00000400646:p.Leu168Pro		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	hg19	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910089	0.72983	.	.	ENSG00000138035	ENST00000447944	T	0.68025	-0.3	5.24	5.24	0.73138	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.64402	D	0.000001	T	0.79470	0.4451	M	0.67625	2.065	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	T	0.78602	-0.2140	10	0.36615	T	0.2	-15.1193	15.4288	0.75075	1.0:0.0:0.0:0.0	.	168	Q8TCS8	PNPT1_HUMAN	P	168	ENSP00000400646:L168P	ENSP00000260604:L168P	L	-	2	0	PNPT1	55761508	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.590000	0.90821	2.107000	0.64212	0.383000	0.25322	CTA		0.313	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		G	55908004	A	G	55908004	3	3	299	1	0	0	0	0	1	0	0	0	12175	420	15	3	1940	3	PNPT1	2	55908004	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08	11400006	55908004	187291369	11	17772											
FANCL	55120	hgsc.bcm.edu	37	2	58431304	58431304	+	Silent	SNP	A	A	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr2:58431304A>G	ENST00000233741.4	-	6	468	c.432T>C	c.(430-432)tcT>tcC	p.S144S	FANCL_ENST00000403295.3_Silent_p.S144S|FANCL_ENST00000540646.1_Intron|FANCL_ENST00000402135.3_Silent_p.S144S|FANCL_ENST00000403676.1_Silent_p.S27S	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	144	UBC-RWD region (URD).		S -> F (in dbSNP:rs36059257).		cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						GCTCTCTACCAGAAGCATCTT	0.408								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													137	133	135					2																	58431304		2203	4300	6503	SO:0001819	synonymous_variant	55120	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"Zinc fingers, PHD-type", "Fanconi anemia, complementation groups"	20748	protein-coding gene	gene with protein product		608111	"PHD finger protein 9"	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.432T>C	chr2.hg19:g.58431304A>G			Q6GU60	Silent	SNP	ENST00000233741.4	hg19	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550764	0.27739	.	.	ENSG00000115392	ENST00000427708	.	.	.	6.03	1.08	0.20341	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47045	-0.9147	4	.	.	.	-18.6795	8.6392	0.33968	0.7171:0.0:0.2829:0.0	.	.	.	.	R	144	.	.	W	-	1	0	FANCL	58284808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.352000	0.44080	0.161000	0.19458	0.533000	0.62120	TGG		0.408	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		G	58431304	A	G	58431304	2	3	299	1	0	0	0	0	0	0	0	1	5672	175	7	3		3	FANCL	2	58431304	Silent	SNP	A	TCGA-B9-5156-01A-01D-1589-08	2523300	58431304	184768069	12	17773											
THNSL2	55258	hgsc.bcm.edu	37	2	88482283	88482283	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr2:88482283A>G	ENST00000324166.5	+	5	2559	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	THNSL2_ENST00000343544.4_Missense_Mutation_p.I290V|THNSL2_ENST00000402102.1_Missense_Mutation_p.I290V|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000377254.3_Missense_Mutation_p.I290V|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000358591.2_Missense_Mutation_p.I290V	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	290					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CCGCAATGACATCATCCACAG	0.512																																																0													93	89	90					2																	88482283		2203	4300	6503	SO:0001583	missense	55258				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.868A>G	chr2.hg19:g.88482283A>G	ENSP00000327323:p.Ile290Val		B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	hg19	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	A	27.0	4.789980	0.90367	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000544063;ENST00000343544;ENST00000324166	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	5.81	5.81	0.92471	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.37561	1.115	0.49389	D	0.999788	D;D;D	0.62365	0.991;0.987;0.979	P;P;P	0.59703	0.844;0.862;0.784	T	0.00701	-1.1603	10	0.38643	T	0.18	.	15.3313	0.74215	1.0:0.0:0.0:0.0	.	132;290;290	A8K0C1;Q86YJ6;Q86YJ6-2	.;THNS2_HUMAN;.	V	290;290;290;132;290;290	ENSP00000351402:I290V;ENSP00000366464:I290V;ENSP00000384475:I290V;ENSP00000339563:I290V;ENSP00000327323:I290V	ENSP00000327323:I290V	I	+	1	0	THNSL2	88263398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.322000	0.90000	2.219000	0.72066	0.533000	0.62120	ATC		0.512	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		G	88482283	A	G	88482283	3	3	299	1	0	0	0	0	1	0	0	0	15868	217	8	3	886	3	THNSL2	2	88482283	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08	30050979	88482283	154717090	13	17774											
TRIM43	129868	hgsc.bcm.edu	37	2	96260855	96260855	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr2:96260855A>T	ENST00000272395.2	+	3	605	c.469A>T	c.(469-471)Aat>Tat	p.N157Y		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	157						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						AAATCAGAGAAATCTATATGA	0.403																																																0													58	56	56					2																	96260855		2203	4299	6502	SO:0001583	missense	129868			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.469A>T	chr2.hg19:g.96260855A>T	ENSP00000272395:p.Asn157Tyr		Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	hg19	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	11.90	1.776990	0.31411	.	.	ENSG00000144015	ENST00000272395	T	0.06608	3.28	0.911	0.911	0.19343	.	.	.	.	.	T	0.12178	0.0296	L	0.59436	1.845	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.17137	-1.0379	9	0.02654	T	1	-3.9711	4.1749	0.10348	1.0:0.0:0.0:0.0	.	157	Q96BQ3	TRI43_HUMAN	Y	157	ENSP00000272395:N157Y	ENSP00000272395:N157Y	N	+	1	0	TRIM43	95624582	0.197000	0.23362	0.060000	0.19600	0.268000	0.26511	0.953000	0.29162	0.680000	0.31366	0.308000	0.20428	AAT		0.403	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		T	96260855	A	T	96260855	3	4	299	1	0	0	0	0	1	0	0	0	16523	14	1	5	475	5	TRIM43	2	96260855	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08	7778572	96260855	146938518	14	17775											
DARS	1615	hgsc.bcm.edu	37	2	136673870	136673871	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr2:136673870_136673871insA	ENST00000264161.4	-	11	1246_1247	c.1031_1032insT	c.(1030-1032)ctafs	p.L344fs	DARS_ENST00000537273.1_Frame_Shift_Ins_p.L244fs	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	344					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATTCTAGTCTTAGAGTTGGCTC	0.366																																																0																																										SO:0001589	frameshift_variant	1615			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1032dupT	chr2.hg19:g.136673871_136673871dupA	ENSP00000264161:p.Leu344fs		A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Frame_Shift_Ins	INS	ENST00000264161.4	hg19	CCDS2180.1																																																																																				0.366	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		A	136673871	-	A	136673870	7	5	299	1	0	1	1	0	0	0	0	0	4243	1741	61	0	497	0	DARS	2	136673870	Frame_Shift_Ins	INS	-	TCGA-B9-5156-01A-01D-1589-08	40413015	136673870	106525503	15	17776											
ZEB2	9839	hgsc.bcm.edu	37	2	145156027	145156027	+	Silent	SNP	G	G	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr2:145156027G>A	ENST00000558170.2	-	8	3911	c.2727C>T	c.(2725-2727)ttC>ttT	p.F909F	ZEB2_ENST00000539609.3_Silent_p.F885F|ZEB2_ENST00000409487.3_Silent_p.F909F|ZEB2_ENST00000303660.4_Silent_p.F909F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	909					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGGTGGCATGAAAGTAGCAG	0.498																																					Melanoma(33;1235 1264 5755 16332)											0													176	170	172					2																	145156027		2203	4300	6503	SO:0001819	synonymous_variant	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2727C>T	chr2.hg19:g.145156027G>A			A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	hg19	CCDS2186.1																																																																																				0.498	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		A	145156027	G	A	145156027	2	1	299	1	0	0	0	0	0	0	0	1	17629	1281	45	2		2	ZEB2	2	145156027	Silent	SNP	G	TCGA-B9-5156-01A-01D-1589-08	8482157	145156027	98043346	16	17777											
CD302	9936	hgsc.bcm.edu	37	2	160637446	160637446	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr2:160637446T>C	ENST00000259053.4	-	3	285	c.242A>G	c.(241-243)aAg>aGg	p.K81R	CD302_ENST00000429078.2_Missense_Mutation_p.K81R|CD302_ENST00000480212.1_5'UTR|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K1666R|LY75_ENST00000554112.1_Missense_Mutation_p.K1722R|LY75_ENST00000553424.1_Missense_Mutation_p.K1666R|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K1722R	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	81	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TTTCCATTGCTTTTTCAAAGT	0.338																																																0													153	141	145					2																	160637446		2203	4300	6503	SO:0001583	missense	100526664			AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"CD molecules", "C-type lectin domain containing"	30843	protein-coding gene	gene with protein product	"C-type lectin domain family 13, member A"	612246	"CD302 antigen"			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.242A>G	chr2.hg19:g.160637446T>C	ENSP00000259053:p.Lys81Arg		A8K5G4|B4E2T9|Q15009	Missense_Mutation	SNP	ENST00000259053.4	hg19	CCDS33308.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.151609	0.78001	.	.	ENSG00000241399;ENSG00000241399;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000259053;ENST00000429078;ENST00000554112;ENST00000553424;ENST00000504764;ENST00000505052	T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1	5.21	3.98	0.46160	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.222293	0.36854	N	0.002374	T	0.14874	0.0359	L	0.51422	1.61	0.21445	N	0.99969	P;B;P;D	0.58620	0.901;0.386;0.642;0.983	P;B;B;P	0.57324	0.702;0.178;0.178;0.818	T	0.09100	-1.0690	10	0.19590	T	0.45	-28.4385	10.1369	0.42712	0.0:0.0:0.3327:0.6673	.	81;1666;1722;81	B4E2T9;O60449-3;O60449-2;Q8IX05	.;.;.;CD302_HUMAN	R	81;81;1722;1666;1722;1666	ENSP00000259053:K81R;ENSP00000394301:K81R;ENSP00000451511:K1722R;ENSP00000451446:K1666R;ENSP00000423463:K1722R;ENSP00000421035:K1666R	ENSP00000259053:K81R	K	-	2	0	LY75;CD302;LY75-CD302	160345692	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.111000	0.31159	2.097000	0.63578	0.533000	0.62120	AAG		0.338	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		C	160637446	T	C	160637446	3	2	299	1	0	0	0	0	1	0	0	0	3005	1609	56	3	472	3	CD302	2	160637446	Missense_Mutation	SNP	T	TCGA-B9-5156-01A-01D-1589-08	15481419	160637446	82561927	17	17778											
UBR3	130507	hgsc.bcm.edu	37	2	170843265	170843265	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr2:170843265C>G	ENST00000272793.5	+	25	3795	c.3745C>G	c.(3745-3747)Cga>Gga	p.R1249G	UBR3_ENST00000392631.1_Missense_Mutation_p.R70G|UBR3_ENST00000418381.1_Missense_Mutation_p.R1249G			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1249					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CTCTGAAGATCGACCTACTGG	0.408																																																0													109	108	108					2																	170843265		2203	4300	6503	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3745C>G	chr2.hg19:g.170843265C>G	ENSP00000272793:p.Arg1249Gly		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.13|17.13	3.312099|3.312099	0.60414|0.60414	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000392632|ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631	.|T;T;T	.|0.57907	.|0.37;0.37;0.89	5.27|5.27	3.38|3.38	0.38709|0.38709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67748|0.67748	0.2926|0.2926	M|M	0.71581|0.71581	2.175|2.175	0.32414|0.32414	N|N	0.550296|0.550296	.|D;D;D	.|0.67145	.|0.993;0.996;0.987	.|D;D;D	.|0.79108	.|0.982;0.992;0.953	T|T	0.71481|0.71481	-0.4580|-0.4580	5|10	.|0.20519	.|T	.|0.43	.|.	13.7422|13.7422	0.62855|0.62855	0.4588:0.5412:0.0:0.0|0.4588:0.5412:0.0:0.0	.|.	.|1249;70;1249	.|Q6ZT12;Q6ZT12-2;E7EVK3	.|UBR3_HUMAN;.;.	M|G	306|1249;1249;1249;70	.|ENSP00000272793:R1249G;ENSP00000396068:R1249G;ENSP00000376408:R70G	.|ENSP00000272793:R1249G	I|R	+|+	3|1	3|2	UBR3|UBR3	170551511|170551511	0.662000|0.662000	0.27439|0.27439	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.024000|1.024000	0.30077|0.30077	0.530000|0.530000	0.28619|0.28619	0.585000|0.585000	0.79938|0.79938	ATC|CGA		0.408	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		G	170843265	C	G	170843265	3	3	299	1	0	0	0	0	1	0	0	0	16908	876	31	4	3843	4	UBR3	2	170843265	Missense_Mutation	SNP	C	TCGA-B9-5156-01A-01D-1589-08	10205819	170843265	72356108	18	17779											
EXOSC7	23016	hgsc.bcm.edu	37	3	45038724	45038724	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr3:45038724G>C	ENST00000265564.7	+	4	448	c.400G>C	c.(400-402)Gtt>Ctt	p.V134L	EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	134					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GCACTGCTGGGTTCTCTATGT	0.468																																																0													128	118	121					3																	45038724		2203	4300	6503	SO:0001583	missense	23016			BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.400G>C	chr3.hg19:g.45038724G>C	ENSP00000265564:p.Val134Leu		Q96E72	Missense_Mutation	SNP	ENST00000265564.7	hg19	CCDS2725.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573110	0.45902	.	.	ENSG00000075914	ENST00000265564	T	0.62232	0.04	5.71	-7.06	0.01568	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.510215	0.21639	N	0.071362	T	0.55940	0.1952	M	0.67625	2.065	0.49130	D	0.999757	B;B	0.09022	0.002;0.002	B;B	0.16289	0.015;0.015	T	0.26643	-1.0097	10	0.30078	T	0.28	-1.5027	19.6631	0.95882	0.2416:0.0:0.7584:0.0	.	134;134	B2RDZ9;Q15024	.;EXOS7_HUMAN	L	134	ENSP00000265564:V134L	ENSP00000265564:V134L	V	+	1	0	EXOSC7	45013728	0.981000	0.34729	0.040000	0.18447	0.953000	0.61014	0.073000	0.14640	-1.400000	0.02061	-0.224000	0.12420	GTT		0.468	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004		C	45038724	G	C	45038724	3	2	299	1	0	0	0	0	1	0	0	0	5321	1261	44	4	414	4	EXOSC7	3	45038724	Missense_Mutation	SNP	G	TCGA-B9-5156-01A-01D-1589-08		45038724	152983706	19	17780											
BOC	91653	hgsc.bcm.edu	37	3	112991328	112991328	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr3:112991328A>C	ENST00000495514.1	+	7	1443	c.739A>C	c.(739-741)Agt>Cgt	p.S247R	BOC_ENST00000355385.3_Missense_Mutation_p.S247R|BOC_ENST00000273395.4_Missense_Mutation_p.S247R			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	247	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CAAAGGCCAGAGTCTCATTCT	0.617																																																0													164	157	159					3																	112991328		2203	4300	6503	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.739A>C	chr3.hg19:g.112991328A>C	ENSP00000418663:p.Ser247Arg		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	hg19	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110475	0.56398	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.69685	-0.42;-0.42;-0.42	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.043438	0.85682	D	0.000000	T	0.60932	0.2307	L	0.41573	1.285	0.50313	D	0.999862	B;B	0.16603	0.014;0.018	B;B	0.21360	0.033;0.034	T	0.56275	-0.8006	10	0.44086	T	0.13	.	16.3797	0.83452	1.0:0.0:0.0:0.0	.	247;247	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	R	247	ENSP00000418663:S247R;ENSP00000273395:S247R;ENSP00000347546:S247R	ENSP00000273395:S247R	S	+	1	0	BOC	114474018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.474000	0.73578	2.271000	0.75665	0.533000	0.62120	AGT		0.617	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		C	112991328	A	C	112991328	3	2	299	1	0	0	0	0	1	0	0	0	1481	304	11	5	757	5	BOC	3	112991328	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08	67952604	112991328	85031102	20	17781											
RPN1	6184	hgsc.bcm.edu	37	3	128348859	128348859	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr3:128348859C>T	ENST00000296255.3	-	5	1019	c.971G>A	c.(970-972)gGc>gAc	p.G324D	RPN1_ENST00000490166.1_5'Flank|RPN1_ENST00000497289.1_Missense_Mutation_p.G152D	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	324					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		CTTCCACCCGCCAAAGAGAGG	0.458			T	EVI1	AML																																		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													76	74	74					3																	128348859		2203	4300	6503	SO:0001583	missense	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.971G>A	chr3.hg19:g.128348859C>T	ENSP00000296255:p.Gly324Asp		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	hg19	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165154	0.94768	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.87051	0.6081	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90352	0.4367	9	0.87932	D	0	-19.9225	19.0082	0.92861	0.0:1.0:0.0:0.0	.	324	P04843	RPN1_HUMAN	D	324;152;95;298	.	ENSP00000296255:G324D	G	-	2	0	RPN1	129831549	1.000000	0.71417	0.920000	0.36463	0.991000	0.79684	7.380000	0.79704	2.487000	0.83934	0.591000	0.81541	GGC		0.458	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		T	128348859	C	T	128348859	3	4	299	1	0	0	0	0	1	0	0	0	13613	739	26	2	876	2	RPN1	3	128348859	Missense_Mutation	SNP	C	TCGA-B9-5156-01A-01D-1589-08	15357531	128348859	69673571	21	17782											
ATR	545	hgsc.bcm.edu	37	3	142268491	142268491	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr3:142268491C>A	ENST00000350721.4	-	15	3122	c.3001G>T	c.(3001-3003)Gat>Tat	p.D1001Y	ATR_ENST00000383101.3_Missense_Mutation_p.D937Y	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1001					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCAGCAAGATCAGGTAGTAGA	0.348								Other conserved DNA damage response genes																																								0													50	51	51					3																	142268491		2203	4299	6502	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3001G>T	chr3.hg19:g.142268491C>A	ENSP00000343741:p.Asp1001Tyr		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	4.829	0.154136	0.09236	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.63417	-0.04;-0.04	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.062472	0.64402	D	0.000004	T	0.34919	0.0914	N	0.02539	-0.55	0.43453	D	0.995646	B	0.06786	0.001	B	0.08055	0.003	T	0.41466	-0.9507	10	0.02654	T	1	-18.3072	17.7702	0.88489	0.0:1.0:0.0:0.0	.	1001	Q13535	ATR_HUMAN	Y	1001;937	ENSP00000343741:D1001Y;ENSP00000372581:D937Y	ENSP00000343741:D1001Y	D	-	1	0	ATR	143751181	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.835000	0.69368	2.635000	0.89317	0.655000	0.94253	GAT		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		A	142268491	C	A	142268491	3	1	299	1	0	0	0	0	1	0	0	0	1204	826	29	4	5065	4	ATR	3	142268491	Missense_Mutation	SNP	C	TCGA-B9-5156-01A-01D-1589-08	13919632	142268491	55753939	22	17783											
SH3TC1	54436	hgsc.bcm.edu	37	4	8229750	8229752	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	ACC	ACC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr4:8229750_8229752delACC	ENST00000245105.3	+	12	2396_2398	c.2329_2331delACC	c.(2329-2331)accdel	p.T777del	SH3TC1_ENST00000539824.1_In_Frame_Del_p.T701del	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	777										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCCTCCCTGACCCCGGGCACAG	0.685																																					NSCLC(145;2298 2623 35616 37297)											0																																										SO:0001651	inframe_deletion	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2329_2331delACC	chr4.hg19:g.8229750_8229752delACC	ENSP00000245105:p.Thr777del		Q4W5G5	In_Frame_Del	DEL	ENST00000245105.3	hg19	CCDS3399.1																																																																																				0.685	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		-	8229752	ACC	-	8229750	7	5	299	1	0	1	0	1	0	0	0	0	14267	275	10	0	2371	0	SH3TC1	4	8229750	In_Frame_Del	DEL	ACC	TCGA-B9-5156-01A-01D-1589-08		8229750	182924526	23	17784											
FBXL5	26234	hgsc.bcm.edu	37	4	15640266	15640266	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr4:15640266T>C	ENST00000341285.3	-	4	572	c.448A>G	c.(448-450)Att>Gtt	p.I150V	FBXL5_ENST00000382358.4_Missense_Mutation_p.I24V|FBXL5_ENST00000412094.2_Missense_Mutation_p.I133V	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	150	Hemerythrin-like.				iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TTCTTTTTAATATCCTTAAGC	0.368																																																0													76	67	70					4																	15640266		2201	4299	6500	SO:0001583	missense	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.448A>G	chr4.hg19:g.15640266T>C	ENSP00000344866:p.Ile150Val		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	hg19	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	31|31	5.081114|5.081114	0.94050|0.94050	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358;ENST00000512066;ENST00000503196;ENST00000509314|ENST00000513163	T;T;T|.	0.38722|.	1.18;1.17;1.12|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59169|0.59169	0.2174|0.2174	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	P;P|.	0.51791|.	0.948;0.913|.	D;P|.	0.67103|.	0.949;0.891|.	T|T	0.55431|0.55431	-0.8142|-0.8142	10|5	0.72032|.	D|.	0.01|.	-22.925|-22.925	16.1306|16.1306	0.81436|0.81436	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	133;150|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	V|C	150;133;24;112;95;95|70	ENSP00000344866:I150V;ENSP00000408679:I133V;ENSP00000371795:I24V|.	ENSP00000344866:I150V|.	I|Y	-|-	1|2	0|0	FBXL5|FBXL5	15249364|15249364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.034000|8.034000	0.88864|0.88864	2.209000|2.209000	0.71365|0.71365	0.528000|0.528000	0.53228|0.53228	ATT|TAT		0.368	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			C	15640266	T	C	15640266	3	2	299	1	0	0	0	0	1	0	0	0	5724	1406	49	3	1659	3	FBXL5	4	15640266	Missense_Mutation	SNP	T	TCGA-B9-5156-01A-01D-1589-08	7410516	15640266	175514010	24	17785											
GC	2638	hgsc.bcm.edu	37	4	72620174	72620174	+	Silent	SNP	G	G	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr4:72620174G>A	ENST00000273951.8	-	10	1559	c.1216C>T	c.(1216-1218)Cta>Tta	p.L406L	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.L425L|GC_ENST00000513476.1_Silent_p.L406L	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	406	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TCTGCACATAGTTCTTGTCCC	0.308																																																0													77	76	76					4																	72620174		2203	4300	6503	SO:0001819	synonymous_variant	2638			L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1216C>T	chr4.hg19:g.72620174G>A			B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	hg19	CCDS3550.1																																																																																				0.308	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			A	72620174	G	A	72620174	2	1	299	1	0	0	0	0	0	0	0	1	6284	1020	36	2		2	GC	4	72620174	Silent	SNP	G	TCGA-B9-5156-01A-01D-1589-08	56979908	72620174	118534102	25	17786											
CENPE	1062	hgsc.bcm.edu	37	4	104041471	104041471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr4:104041471delT	ENST00000265148.3	-	44	7252	c.7163delA	c.(7162-7164)aatfs	p.N2388fs	CENPE_ENST00000380026.3_Frame_Shift_Del_p.N2267fs	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2388	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATGCAGTGAATTTTCCAGCTC	0.333																																																0													106	90	96					4																	104041471		2202	4296	6498	SO:0001589	frameshift_variant	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7163delA	chr4.hg19:g.104041471delT	ENSP00000265148:p.Asn2388fs		A6NKY9|A8K2U7|Q4LE75	Frame_Shift_Del	DEL	ENST00000265148.3	hg19	CCDS34042.1																																																																																				0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				-	104041471	T	-	104041471	7	5	299	1	0	1	0	1	0	0	0	0	3232	1493	52	0	966	0	CENPE	4	104041471	Frame_Shift_Del	DEL	T	TCGA-B9-5156-01A-01D-1589-08	31421297	104041471	87112805	26	17787											
LRBA	987	hgsc.bcm.edu	37	4	151827133	151827134	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr4:151827133_151827134insT	ENST00000357115.3	-	13	1854_1855	c.1611_1612insA	c.(1609-1614)aaatctfs	p.S538fs	LRBA_ENST00000535741.1_Frame_Shift_Ins_p.S538fs|LRBA_ENST00000510413.1_Frame_Shift_Ins_p.S538fs|LRBA_ENST00000507224.1_Frame_Shift_Ins_p.S538fs	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	538						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTAACATGAGATTTGGAAGACT	0.396																																																0																																										SO:0001589	frameshift_variant	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1612dupA	chr4.hg19:g.151827136_151827136dupT	ENSP00000349629:p.Ser538fs		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Frame_Shift_Ins	INS	ENST00000357115.3	hg19	CCDS3773.1																																																																																				0.396	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			T	151827134	-	T	151827133	7	5	299	1	0	1	1	0	0	0	0	0	8933	333	12	0	7163	0	LRBA	4	151827133	Frame_Shift_Ins	INS	-	TCGA-B9-5156-01A-01D-1589-08	47785662	151827133	39327143	27	17788											
TERT	7015	hgsc.bcm.edu	37	5	1282605	1282605	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr5:1282605T>G	ENST00000310581.5	-	3	1765	c.1708A>C	c.(1708-1710)Aag>Cag	p.K570Q	TERT_ENST00000508104.2_Missense_Mutation_p.K570Q|TERT_ENST00000334602.6_Missense_Mutation_p.K570Q|TERT_ENST00000296820.5_Missense_Mutation_p.K570Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	570			K -> N (in AA susceptibility; abolishes telomerase catalytic activity but no effect on binding to TERC). {ECO:0000269|PubMed:16990594, ECO:0000269|PubMed:19760749}.		DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	AGCCTGTTCTTTTGAAACGTG	0.517									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																							0													119	114	116					5																	1282605		2203	4300	6503	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1708A>C	chr5.hg19:g.1282605T>G	ENSP00000309572:p.Lys570Gln		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	hg19	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727919	0.48833	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	4.64	3.42	0.39159	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.049349	0.85682	D	0.000000	D	0.93969	0.8069	M	0.92026	3.265	0.49213	D	0.999767	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.97110	0.952;1.0;0.972	D	0.93578	0.6910	10	0.72032	D	0.01	-0.3505	11.0502	0.47882	0.0:0.0:0.1562:0.8438	.	570;570;570	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	Q	570	ENSP00000309572:K570Q;ENSP00000296820:K570Q;ENSP00000334346:K570Q;ENSP00000426042:K570Q	ENSP00000296820:K570Q	K	-	1	0	TERT	1335605	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	2.991000	0.49409	0.585000	0.29608	0.379000	0.24179	AAG		0.517	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			G	1282605	T	G	1282605	3	3	299	1	0	0	0	0	1	0	0	0	15769	1850	64	5	1746	5	TERT	5	1282605	Missense_Mutation	SNP	T	TCGA-B9-5156-01A-01D-1589-08		1282605	179632655	28	17789											
CDH6	1004	hgsc.bcm.edu	37	5	31323226	31323226	+	Silent	SNP	T	T	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr5:31323226T>G	ENST00000265071.2	+	12	2449	c.2184T>G	c.(2182-2184)acT>acG	p.T728T		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	728					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGGACCCCACTGCCCCGCCAT	0.557																																																0													42	43	42					5																	31323226		2203	4300	6503	SO:0001819	synonymous_variant	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2184T>G	chr5.hg19:g.31323226T>G			A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	hg19	CCDS3894.1																																																																																				0.557	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		G	31323226	T	G	31323226	2	3	299	1	0	0	0	0	0	0	0	1	3116	1567	55	5		5	CDH6	5	31323226	Silent	SNP	T	TCGA-B9-5156-01A-01D-1589-08	30040621	31323226	149592034	29	17790											
TRIM36	55521	hgsc.bcm.edu	37	5	114515696	114515696	+	Silent	SNP	G	G	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr5:114515696G>A	ENST00000282369.3	-	1	160	c.39C>T	c.(37-39)atC>atT	p.I13I	TRIM36_ENST00000379617.2_Silent_p.I13I|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379618.2_Silent_p.I13I	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	13					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCAATTCCATGATGTAGCCAA	0.577																																																0													116	117	117					5																	114515696		2202	4300	6502	SO:0001819	synonymous_variant	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.39C>T	chr5.hg19:g.114515696G>A			A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	ENST00000282369.3	hg19	CCDS4115.1																																																																																				0.577	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		A	114515696	G	A	114515696	2	1	299	1	0	0	0	0	0	0	0	1	16515	1280	45	2		2	TRIM36	5	114515696	Silent	SNP	G	TCGA-B9-5156-01A-01D-1589-08	83192470	114515696	66399564	30	17791											
PCDHGA1	56114	hgsc.bcm.edu	37	5	140712438	140712438	+	Silent	SNP	A	A	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr5:140712438A>G	ENST00000517417.1	+	1	2187	c.2187A>G	c.(2185-2187)ggA>ggG	p.G729G	PCDHGA1_ENST00000378105.3_Silent_p.G729G	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	729					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTTCGGGAGGCGGCTTAG	0.662																																																0													64	69	68					5																	140712438		2203	4300	6503	SO:0001819	synonymous_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2187A>G	chr5.hg19:g.140712438A>G			Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	hg19	CCDS54922.1																																																																																				0.662	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		G	140712438	A	G	140712438	2	3	299	1	0	0	0	0	0	0	0	1	11552	291	11	3		3	PCDHGA1	5	140712438	Silent	SNP	A	TCGA-B9-5156-01A-01D-1589-08	26196742	140712438	40202822	31	17792											
LARS	51520	hgsc.bcm.edu	37	5	145506033	145506033	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr5:145506033T>C	ENST00000394434.2	-	28	3122	c.2956A>G	c.(2956-2958)Atg>Gtg	p.M986V	LARS_ENST00000274562.9_Missense_Mutation_p.M959V|LARS_ENST00000545646.1_Missense_Mutation_p.M940V|LARS_ENST00000510191.1_Missense_Mutation_p.M932V	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	986					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ACTTTCTTCATGTATTTCTTC	0.428																																																0													202	156	171					5																	145506033		2202	4300	6502	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2956A>G	chr5.hg19:g.145506033T>C	ENSP00000377954:p.Met986Val		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	hg19	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399675	0.42512	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.63913	-0.06;-0.06;-0.06;-0.07	5.17	5.17	0.71159	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.037152	0.85682	D	0.000000	T	0.66157	0.2761	M	0.86864	2.845	0.80722	D	1	B;P;B	0.38335	0.007;0.627;0.001	B;B;B	0.36030	0.007;0.216;0.007	T	0.68401	-0.5418	10	0.25751	T	0.34	.	15.1805	0.72952	0.0:0.0:0.0:1.0	.	959;940;986	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	V	986;940;295;932;959	ENSP00000377954:M986V;ENSP00000437791:M940V;ENSP00000426005:M932V;ENSP00000274562:M959V	ENSP00000274562:M959V	M	-	1	0	LARS	145486226	1.000000	0.71417	0.937000	0.37676	0.899000	0.52679	5.892000	0.69790	2.178000	0.69098	0.455000	0.32223	ATG		0.428	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		C	145506033	T	C	145506033	3	2	299	1	0	0	0	0	1	0	0	0	8636	1464	51	3	594	3	LARS	5	145506033	Missense_Mutation	SNP	T	TCGA-B9-5156-01A-01D-1589-08	4793595	145506033	35409227	32	17793											
PDGFRB	5159	hgsc.bcm.edu	37	5	149511592	149511592	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr5:149511592G>T	ENST00000261799.4	-	8	1662	c.1193C>A	c.(1192-1194)gCc>gAc	p.A398D		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	398	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGGAAGGCCCGCATGGT	0.607			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0													129	106	114					5																	149511592		2203	4300	6503	SO:0001583	missense	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1193C>A	chr5.hg19:g.149511592G>T	ENSP00000261799:p.Ala398Asp		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	hg19	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318803	0.81469	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.76968	-1.06	5.52	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000079	D	0.86908	0.6046	M	0.79805	2.47	0.41506	D	0.988315	D;D	0.89917	0.992;1.0	D;D	0.77004	0.959;0.989	D	0.88006	0.2759	10	0.87932	D	0	.	10.3808	0.44110	0.1488:0.0:0.8512:0.0	.	398;398	A8KAM8;P09619	.;PGFRB_HUMAN	D	398;68	ENSP00000261799:A398D	ENSP00000261799:A398D	A	-	2	0	PDGFRB	149491785	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	4.122000	0.57910	1.325000	0.45301	0.655000	0.94253	GCC		0.607	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		T	149511592	G	T	149511592	3	4	299	1	0	0	0	0	1	0	0	0	11664	1203	42	4	2191	4	PDGFRB	5	149511592	Missense_Mutation	SNP	G	TCGA-B9-5156-01A-01D-1589-08	4005559	149511592	31403668	33	17794											
SLC34A1	6569	hgsc.bcm.edu	37	5	176824798	176824800	+	In_Frame_Del	DEL	CTT	CTT	-	rs387907506		TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr5:176824798_176824800delCTT	ENST00000324417.5	+	13	1522_1524	c.1431_1433delCTT	c.(1429-1434)cacttc>cac	p.F480del	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	480					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCTGTCACTTCTTCTTCAAC	0.616																																																0																																										SO:0001651	inframe_deletion	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1431_1433delCTT	chr5.hg19:g.176824804_176824806delCTT	ENSP00000321424:p.Phe480del		B4DPE3	In_Frame_Del	DEL	ENST00000324417.5	hg19	CCDS4418.1																																																																																				0.616	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		-	176824800	CTT	-	176824798	7	5	299	1	0	1	0	1	0	0	0	0	14573	564	20	0	1568	0	SLC34A1	5	176824798	In_Frame_Del	DEL	CTT	TCGA-B9-5156-01A-01D-1589-08	27313206	176824798	4090462	34	17795											
PRPF4B	8899	hgsc.bcm.edu	37	6	4032504	4032504	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr6:4032504A>C	ENST00000337659.6	+	2	853	c.753A>C	c.(751-753)aaA>aaC	p.K251N	PRPF4B_ENST00000538861.1_Missense_Mutation_p.K237N	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	251	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CTCAAGAGAAAATTGGTAAGG	0.343																																																0													123	134	131					6																	4032504		2203	4300	6503	SO:0001583	missense	8899			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.753A>C	chr6.hg19:g.4032504A>C	ENSP00000337194:p.Lys251Asn		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	hg19	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.997406	0.54147	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.67865	-0.29;-0.29	5.61	-1.1	0.09872	.	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	L	0.36672	1.1	0.32528	N	0.535323	P	0.43477	0.808	B	0.33960	0.173	T	0.13255	-1.0516	10	0.32370	T	0.25	.	10.743	0.46164	0.6402:0.0:0.3598:0.0	.	251	Q13523	PRP4B_HUMAN	N	251;237	ENSP00000337194:K251N;ENSP00000439331:K237N	ENSP00000337194:K251N	K	+	3	2	PRPF4B	3977503	0.997000	0.39634	0.223000	0.23860	0.955000	0.61496	1.838000	0.39211	-0.329000	0.08527	0.533000	0.62120	AAA		0.343	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			C	4032504	A	C	4032504	3	2	299	1	0	0	0	0	1	0	0	0	12578	11	1	5	759	5	PRPF4B	6	4032504	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08		4032504	167082563	35	17796											
MUC21	394263	hgsc.bcm.edu	37	6	30954340	30954340	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr6:30954340A>T	ENST00000376296.3	+	2	629	c.388A>T	c.(388-390)Agt>Tgt	p.S130C	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	130	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CACACCCTCCAGTGGGGCCAG	0.607																																																0													164	155	158					6																	30954340		2203	4300	6503	SO:0001583	missense	394263			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.388A>T	chr6.hg19:g.30954340A>T	ENSP00000365473:p.Ser130Cys		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	hg19	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	9.389	1.074974	0.20227	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.03301	3.98	3.34	-1.87	0.07737	.	.	.	.	.	T	0.01092	0.0036	N	0.24115	0.695	0.09310	N	1	D	0.53619	0.961	P	0.47162	0.54	T	0.47433	-0.9118	8	.	.	.	.	4.8046	0.13314	0.3103:0.0:0.5043:0.1854	.	130	Q5SSG8	MUC21_HUMAN	C	130	ENSP00000365473:S130C	.	S	+	1	0	MUC21	31062319	0.007000	0.16637	0.000000	0.03702	0.014000	0.08584	1.200000	0.32247	-0.218000	0.10018	-0.425000	0.05940	AGT		0.607	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		T	30954340	A	T	30954340	3	4	299	1	0	0	0	0	1	0	0	0	9979	188	7	5	394	5	MUC21	6	30954340	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08	26921836	30954340	140160727	36	17797											
PKHD1	5314	hgsc.bcm.edu	37	6	51889440	51889440	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr6:51889440C>G	ENST00000371117.3	-	32	5443	c.5168G>C	c.(5167-5169)aGa>aCa	p.R1723T	PKHD1_ENST00000340994.4_Missense_Mutation_p.R1723T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1723	IPT/TIG 12; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCCACCCTCTGATGCAGTC	0.532																																																0													87	86	86					6																	51889440		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5168G>C	chr6.hg19:g.51889440C>G	ENSP00000360158:p.Arg1723Thr		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071085	0.55646	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87256	-2.05;-2.23	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.91543	0.7329	M	0.66939	2.045	0.35080	D	0.763272	D;D	0.76494	0.99;0.999	D;D	0.77557	0.96;0.99	D	0.91115	0.4925	10	0.45353	T	0.12	.	18.6881	0.91573	0.0:1.0:0.0:0.0	.	1723;1723	P08F94-2;P08F94	.;PKHD1_HUMAN	T	1723	ENSP00000360158:R1723T;ENSP00000341097:R1723T	ENSP00000341097:R1723T	R	-	2	0	PKHD1	51997399	1.000000	0.71417	0.878000	0.34440	0.146000	0.21551	5.086000	0.64474	2.659000	0.90383	0.650000	0.86243	AGA		0.532	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		G	51889440	C	G	51889440	3	3	299	1	0	0	0	0	1	0	0	0	11973	913	32	4	7239	4	PKHD1	6	51889440	Missense_Mutation	SNP	C	TCGA-B9-5156-01A-01D-1589-08	20935100	51889440	119225627	37	17798											
LIMK1	3984	hgsc.bcm.edu	37	7	73530183	73530183	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr7:73530183G>A	ENST00000336180.2	+	13	1513	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	LIMK1_ENST00000538333.3_Missense_Mutation_p.E454K|LIMK1_ENST00000418310.1_Missense_Mutation_p.E518K	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	488	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CATGGTGGACGAGAAGACTCA	0.607																																																0													101	83	89					7																	73530183		2203	4300	6503	SO:0001583	missense	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1462G>A	chr7.hg19:g.73530183G>A	ENSP00000336740:p.Glu488Lys		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	hg19	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	g	14.48	2.547545	0.45383	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.62232	0.04;0.04;0.04	5.25	3.45	0.39498	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.210321	0.48767	D	0.000162	T	0.43942	0.1270	N	0.17345	0.48	0.50813	D	0.999895	P;P	0.48834	0.543;0.916	B;B	0.42386	0.364;0.386	T	0.28427	-1.0044	10	0.39692	T	0.17	-19.111	8.804	0.34927	0.0834:0.1523:0.7643:0.0	.	454;488	B7Z6I8;P53667	.;LIMK1_HUMAN	K	518;488;488;454	ENSP00000409717:E518K;ENSP00000336740:E488K;ENSP00000444452:E454K	ENSP00000336740:E488K	E	+	1	0	LIMK1	73168119	1.000000	0.71417	0.039000	0.18376	0.059000	0.15707	7.647000	0.83462	0.627000	0.30340	-0.240000	0.12126	GAG		0.607	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		A	73530183	G	A	73530183	3	1	299	1	0	0	0	0	1	0	0	0	8803	1059	37	1	1512	1	LIMK1	7	73530183	Missense_Mutation	SNP	G	TCGA-B9-5156-01A-01D-1589-08		73530183	85608480	38	17799											
STYXL1	51657	hgsc.bcm.edu	37	7	75633079	75633079	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr7:75633079T>C	ENST00000248600.1	-	7	1036	c.694A>G	c.(694-696)Att>Gtt	p.I232V	STYXL1_ENST00000359697.3_Missense_Mutation_p.I232V|STYXL1_ENST00000451157.1_Missense_Mutation_p.I232V|STYXL1_ENST00000340062.5_Missense_Mutation_p.I136V|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.I232V	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	232	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TCCTTACCAATGAAGTGACAC	0.537																																																0													113	87	96					7																	75633079		2203	4300	6503	SO:0001583	missense	51657			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	protein-coding gene	gene with protein product			"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.694A>G	chr7.hg19:g.75633079T>C	ENSP00000248600:p.Ile232Val		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	hg19	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347287	0.24426	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	D;D;D;D;T;D	0.88124	-2.34;-2.34;-2.34;-2.34;0.0;-2.34	3.74	-3.86	0.04230	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.287194	0.36374	N	0.002630	T	0.79435	0.4445	L	0.52823	1.66	0.80722	D	1	B;B;B;B;B;B	0.33748	0.423;0.172;0.096;0.01;0.087;0.086	B;B;B;B;B;B	0.32805	0.153;0.133;0.081;0.007;0.12;0.124	T	0.66212	-0.5980	10	0.62326	D	0.03	.	8.0828	0.30754	0.0:0.0993:0.6291:0.2716	.	232;232;232;136;232;136	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8;Q7Z3H6	.;.;.;.;STYL1_HUMAN;.	V	232;232;136;232;232;187;232	ENSP00000248600:I232V;ENSP00000352726:I232V;ENSP00000343383:I136V;ENSP00000392221:I232V;ENSP00000406073:I187V;ENSP00000411812:I232V	ENSP00000248600:I232V	I	-	1	0	STYXL1	75471015	0.998000	0.40836	0.219000	0.23793	0.709000	0.40893	0.666000	0.25097	-0.708000	0.05015	0.460000	0.39030	ATT		0.537	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		C	75633079	T	C	75633079	3	2	299	1	0	0	0	0	1	0	0	0	15366	1464	51	3	259	3	STYXL1	7	75633079	Missense_Mutation	SNP	T	TCGA-B9-5156-01A-01D-1589-08	2102896	75633079	83505584	39	17800											
STYXL1	51657	hgsc.bcm.edu	37	7	75643205	75643205	+	Splice_Site	SNP	T	T	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr7:75643205T>C	ENST00000248600.1	-	5	650	c.308A>G	c.(307-309)gAt>gGt	p.D103G	STYXL1_ENST00000359697.3_Splice_Site_p.D103G|STYXL1_ENST00000451157.1_Splice_Site_p.D103G|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000360591.3_Intron|STYXL1_ENST00000431581.1_Splice_Site_p.D103G	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	103	Rhodanese.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						AGGCACAAGATCTGAGAGTGG	0.498																																																0													125	109	114					7																	75643205		2203	4300	6503	SO:0001630	splice_region_variant	51657			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	protein-coding gene	gene with protein product			"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.308-1A>G	chr7.hg19:g.75643205T>C			Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	hg19	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	T	9.558	1.117639	0.20877	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.26	-5.09	0.02920	Rhodanese-like (4);	2.770220	0.00966	N	0.003162	T	0.14787	0.0357	N	0.16478	0.41	0.26750	N	0.970228	B;B;B	0.10296	0.003;0.001;0.002	B;B;B	0.11329	0.006;0.001;0.003	T	0.18209	-1.0344	10	0.22706	T	0.39	.	7.9066	0.29765	0.1461:0.5762:0.0:0.2777	.	103;103;103	C9J4H0;Q9Y6J8-2;Q9Y6J8	.;.;STYL1_HUMAN	G	103;103;103;103;58;103	ENSP00000248600:D103G;ENSP00000352726:D103G;ENSP00000392221:D103G;ENSP00000411812:D103G	ENSP00000248600:D103G	D	-	2	0	STYXL1	75481141	0.053000	0.20554	0.002000	0.10522	0.015000	0.08874	-0.109000	0.10840	-0.873000	0.04032	0.454000	0.30748	GAT		0.498	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086	Missense_Mutation	C	75643205	T	C	75643205	5	2	299	1	0	0	0	0	0	0	1	0	15366	1449	50	3	653	3	STYXL1	7	75643205	Splice_Site	SNP	T	TCGA-B9-5156-01A-01D-1589-08	10126	75643205	83495458	40	17801											
ZNF3	7551	hgsc.bcm.edu	37	7	99669265	99669266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr7:99669265_99669266insC	ENST00000424697.1	-	6	1147_1148	c.841_842insG	c.(841-843)gagfs	p.E281fs	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Frame_Shift_Ins_p.E281fs|ZNF3_ENST00000299667.4_Frame_Shift_Ins_p.E281fs	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	281					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			ATAGGGTTTCTCCCCCGTGTGG	0.515																																																0																																										SO:0001589	frameshift_variant	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.842dupG	chr7.hg19:g.99669270_99669270dupC	ENSP00000415358:p.Glu281fs		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Frame_Shift_Ins	INS	ENST00000424697.1	hg19	CCDS43619.1																																																																																				0.515	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		C	99669266	-	C	99669265	7	5	299	1	0	1	1	0	0	0	0	0	17834	1551	54	0	631	0	ZNF3	7	99669265	Frame_Shift_Ins	INS	-	TCGA-B9-5156-01A-01D-1589-08	24026060	99669265	59469398	41	17802											
ZNF786	136051	hgsc.bcm.edu	37	7	148767681	148767681	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr7:148767681G>T	ENST00000491431.1	-	4	2247	c.2183C>A	c.(2182-2184)cCc>cAc	p.P728H	ZNF786_ENST00000451334.3_Missense_Mutation_p.P691H|ZNF786_ENST00000316286.9_Missense_Mutation_p.P642H	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	728					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGGCCTCTCGGGCCTGTGGAT	0.567																																																0													131	135	133					7																	148767681		2045	4211	6256	SO:0001583	missense	136051			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.2183C>A	chr7.hg19:g.148767681G>T	ENSP00000417470:p.Pro728His		A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	hg19	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678888	0.47886	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.19394	2.15;2.15;2.15	4.62	3.7	0.42460	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36444	N	0.002595	T	0.34745	0.0908	L	0.42581	1.335	0.31365	N	0.68091	D	0.89917	1.0	D	0.77004	0.989	T	0.21484	-1.0244	10	0.87932	D	0	-21.2407	10.48	0.44687	0.0:0.3127:0.6873:0.0	.	728	Q8N393	ZN786_HUMAN	H	642;728;691	ENSP00000313516:P642H;ENSP00000417470:P728H;ENSP00000404984:P691H	ENSP00000313516:P642H	P	-	2	0	ZNF786	148398614	0.001000	0.12720	0.900000	0.35374	0.789000	0.44602	0.774000	0.26675	2.411000	0.81874	0.591000	0.81541	CCC		0.567	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		T	148767681	G	T	148767681	3	4	299	1	0	0	0	0	1	0	0	0	18163	1232	43	4	169	4	ZNF786	7	148767681	Missense_Mutation	SNP	G	TCGA-B9-5156-01A-01D-1589-08	49098416	148767681	10370982	42	17803											
GIMAP6	474344	hgsc.bcm.edu	37	7	150325338	150325338	+	Silent	SNP	G	G	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr7:150325338G>A	ENST00000328902.5	-	3	564	c.348C>T	c.(346-348)atC>atT	p.I116I	GIMAP6_ENST00000493969.1_Missense_Mutation_p.R42C	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	116	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGATAAGACGATGGCTTGGC	0.632																																																0													57	59	58					7																	150325338		2203	4300	6503	SO:0001819	synonymous_variant	474344			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.348C>T	chr7.hg19:g.150325338G>A			C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	hg19	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	G	8.530	0.870870	0.17322	.	.	ENSG00000133561	ENST00000493969	.	.	.	4.07	-6.18	0.02085	.	.	.	.	.	T	0.30386	0.0763	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44034	-0.9354	5	0.87932	D	0	.	2.4155	0.04435	0.2705:0.4128:0.199:0.1177	.	.	.	.	C	42	.	ENSP00000418304:R42C	R	-	1	0	GIMAP6	149956271	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.968000	0.03817	-1.017000	0.03367	-1.157000	0.01802	CGT		0.632	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		A	150325338	G	A	150325338	2	1	299	1	0	0	0	0	0	0	0	1	6385	1048	37	1		1	GIMAP6	7	150325338	Silent	SNP	G	TCGA-B9-5156-01A-01D-1589-08	1557657	150325338	8813325	43	17804											
PXDNL	137902	hgsc.bcm.edu	37	8	52336162	52336162	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr8:52336162C>G	ENST00000356297.4	-	14	1868	c.1768G>C	c.(1768-1770)Gtg>Ctg	p.V590L	PXDNL_ENST00000543296.1_Missense_Mutation_p.V590L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	590	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATGTTGGTCACAGCAAGGCCA	0.453																																																0													109	115	113					8																	52336162		2106	4234	6340	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1768G>C	chr8.hg19:g.52336162C>G	ENSP00000348645:p.Val590Leu		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	hg19	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175500	0.21704	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66638	-0.22;-0.22	4.59	2.79	0.32731	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50633	0.1627	N	0.25789	0.76	0.09310	N	1	B	0.14438	0.01	B	0.21151	0.033	T	0.36986	-0.9725	9	0.30854	T	0.27	.	7.6374	0.28274	0.0:0.7996:0.0:0.2004	.	590	A1KZ92	PXDNL_HUMAN	L	590	ENSP00000348645:V590L;ENSP00000444865:V590L	ENSP00000348645:V590L	V	-	1	0	PXDNL	52498715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.388000	0.07352	0.476000	0.27440	-0.757000	0.03467	GTG		0.453	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		G	52336162	C	G	52336162	3	3	299	1	0	0	0	0	1	0	0	0	12854	478	17	4	2663	4	PXDNL	8	52336162	Missense_Mutation	SNP	C	TCGA-B9-5156-01A-01D-1589-08		52336162	94027860	44	17805											
TMEM67	91147	hgsc.bcm.edu	37	8	94797545	94797545	+	Silent	SNP	T	T	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr8:94797545T>C	ENST00000453321.3	+	12	1285	c.1227T>C	c.(1225-1227)taT>taC	p.Y409Y	TMEM67_ENST00000409623.3_Silent_p.Y328Y	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	409					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AACATCAATATATTTTGGCTG	0.338																																																0													141	148	146					8																	94797545		2202	4297	6499	SO:0001819	synonymous_variant	91147			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1227T>C	chr8.hg19:g.94797545T>C			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	hg19	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	T	6.534	0.466810	0.12402	.	.	ENSG00000164953	ENST00000520680	D	0.96940	-4.18	4.53	1.01	0.19927	.	0.777204	0.11502	N	0.557622	D	0.93884	0.8043	.	.	.	0.45477	D	0.998442	.	.	.	.	.	.	D	0.86765	0.1969	7	0.19590	T	0.45	-2.1138	8.48	0.33036	0.0:0.401:0.0:0.599	.	.	.	.	H	17	ENSP00000428785:Y17H	ENSP00000428785:Y17H	Y	+	1	0	TMEM67	94866721	0.865000	0.29922	0.723000	0.30687	0.942000	0.58702	-0.048000	0.11944	0.356000	0.24157	0.482000	0.46254	TAT		0.338	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		C	94797545	T	C	94797545	2	2	299	1	0	0	0	0	0	0	0	1	16201	1413	49	3		3	TMEM67	8	94797545	Silent	SNP	T	TCGA-B9-5156-01A-01D-1589-08	42461383	94797545	51566477	45	17806											
LOC645961	645961	hgsc.bcm.edu	37	9	90744548	90744548	+	IGR	SNP	T	T	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr9:90744548T>C								U6 (131298 upstream) : U3 (244635 downstream)																							TTTCAAGGGCTACTGATCTCT	0.527																																																0													197	154	167					9																	90744548		692	1591	2283	SO:0001628	intergenic_variant	645961																															chr9.hg19:g.90744548T>C				Missense_Mutation	SNP		hg19																																																																																				0	0.527									C	90744548	T	C	90744548	1	2	299	0	1	0	0	0	0	0	0	0	8885	1535	53	3		3	LOC645961	9	90744548	IGR	SNP	T	TCGA-B9-5156-01A-01D-1589-08		90744548	50468883	46	17807											
TOR1A	1861	hgsc.bcm.edu	37	9	132576423	132576423	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr9:132576423T>G	ENST00000351698.4	-	5	875	c.827A>C	c.(826-828)cAc>cCc	p.H276P		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	276	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				CATTTTTAGGTGTTTGTATTC	0.453																																																0													163	156	159					9																	132576423		2203	4300	6503	SO:0001583	missense	1861			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.827A>C	chr9.hg19:g.132576423T>G	ENSP00000345719:p.His276Pro		B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	hg19	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269693	0.80469	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.71579	-0.58	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.87740	0.6253	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90894	0.4763	10	0.87932	D	0	-9.1277	14.3493	0.66688	0.0:0.0:0.0:1.0	.	276	O14656	TOR1A_HUMAN	P	245;276	ENSP00000345719:H276P	ENSP00000345719:H276P	H	-	2	0	TOR1A	131616244	1.000000	0.71417	0.928000	0.36995	0.803000	0.45373	7.698000	0.84413	1.974000	0.57490	0.459000	0.35465	CAC		0.453	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		G	132576423	T	G	132576423	3	3	299	1	0	0	0	0	1	0	0	0	16376	1696	59	5	175	5	TOR1A	9	132576423	Missense_Mutation	SNP	T	TCGA-B9-5156-01A-01D-1589-08	41831875	132576423	8637008	47	17808											
WNT8B	7479	hgsc.bcm.edu	37	10	102239758	102239758	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr10:102239758G>A	ENST00000343737.5	+	3	358	c.230G>A	c.(229-231)gGg>gAg	p.G77E		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	77					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		AGCCATGGTGGGCTTCGCAGT	0.582																																																0													54	49	50					10																	102239758		2203	4300	6503	SO:0001583	missense	7479			X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"Wingless-type MMTV integration sites"	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.230G>A	chr10.hg19:g.102239758G>A	ENSP00000340677:p.Gly77Glu		O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	ENST00000343737.5	hg19	CCDS7494.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368885	0.42003	.	.	ENSG00000075290	ENST00000343737	T	0.74947	-0.89	5.7	5.7	0.88788	.	1.622190	0.03427	N	0.207152	T	0.75606	0.3872	N	0.21373	0.66	0.54753	D	0.999988	P	0.38535	0.635	P	0.48982	0.597	T	0.60999	-0.7151	10	0.05351	T	0.99	.	19.8354	0.96655	0.0:0.0:1.0:0.0	.	77	Q93098	WNT8B_HUMAN	E	77	ENSP00000340677:G77E	ENSP00000340677:G77E	G	+	2	0	WNT8B	102229748	1.000000	0.71417	0.990000	0.47175	0.759000	0.43091	9.476000	0.97823	2.686000	0.91538	0.555000	0.69702	GGG		0.582	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		A	102239758	G	A	102239758	3	1	299	1	0	0	0	0	1	0	0	0	17402	1232	43	2	240	2	WNT8B	10	102239758	Missense_Mutation	SNP	G	TCGA-B9-5156-01A-01D-1589-08		102239758	33294989	48	17809											
PRKRIR	5612	hgsc.bcm.edu	37	11	76062971	76062971	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr11:76062971A>T	ENST00000260045.3	-	5	1328	c.1223T>A	c.(1222-1224)cTt>cAt	p.L408H	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	408					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GTTCTGAAAAAGAACAGAAAT	0.388																																																0													19	19	19					11																	76062971		2163	4223	6386	SO:0001583	missense	5612			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1223T>A	chr11.hg19:g.76062971A>T	ENSP00000260045:p.Leu408His		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	hg19	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	6.750	0.507246	0.12883	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.052433	0.85682	D	0.000000	T	0.50103	0.1596	L	0.45581	1.43	0.46131	D	0.998889	B	0.31318	0.319	B	0.26310	0.068	T	0.52764	-0.8532	9	0.46703	T	0.11	.	14.7428	0.69469	1.0:0.0:0.0:0.0	.	408	O43422	P52K_HUMAN	H	233;408	.	ENSP00000260045:L408H	L	-	2	0	PRKRIR	75740619	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	2.504000	0.45416	1.956000	0.56807	0.524000	0.50904	CTT		0.388	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		T	76062971	A	T	76062971	3	4	299	1	0	0	0	0	1	0	0	0	12531	72	3	5	1066	5	PRKRIR	11	76062971	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08		76062971	58943545	49	17810											
SYTL2	54843	hgsc.bcm.edu	37	11	85445140	85445140	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr11:85445140A>T	ENST00000528231.1	-	6	1506	c.1229T>A	c.(1228-1230)aTg>aAg	p.M410K	SYTL2_ENST00000527523.1_Missense_Mutation_p.M362K|SYTL2_ENST00000524452.1_Missense_Mutation_p.M410K|SYTL2_ENST00000389960.4_Missense_Mutation_p.M410K|SYTL2_ENST00000316356.4_Missense_Mutation_p.M411K	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	410					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ACCAGAAGTCATTGGCTGATG	0.403																																																0													152	146	148					11																	85445140		2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1229T>A	chr11.hg19:g.85445140A>T	ENSP00000431701:p.Met410Lys		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	hg19	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	A	7.911	0.736457	0.15574	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.23348	2.0;2.01;2.01;1.91;2.0	5.81	-5.21	0.02815	.	.	.	.	.	T	0.10981	0.0268	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.001	T	0.34104	-0.9842	8	.	.	.	.	1.191	0.01864	0.3579:0.26:0.0884:0.2937	.	362;410;410;411;268	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	K	410;411;410;362;410	ENSP00000374610:M410K;ENSP00000318803:M411K;ENSP00000431701:M410K;ENSP00000434010:M362K;ENSP00000435238:M410K	.	M	-	2	0	SYTL2	85122788	0.000000	0.05858	0.002000	0.10522	0.675000	0.39556	-2.151000	0.01289	-0.378000	0.07918	0.533000	0.62120	ATG		0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		T	85445140	A	T	85445140	3	4	299	1	0	0	0	0	1	0	0	0	15488	217	8	5	4108	5	SYTL2	11	85445140	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08	9382169	85445140	49561376	50	17811											
ADAMTS8	11095	hgsc.bcm.edu	37	11	130284505	130284505	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr11:130284505G>T	ENST00000257359.6	-	5	2193	c.1487C>A	c.(1486-1488)gCt>gAt	p.A496D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	496	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CGTGCCGTCAGCCCAGGGCAG	0.657																																																0													49	56	53					11																	130284505		2029	4184	6213	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1487C>A	chr11.hg19:g.130284505G>T	ENSP00000257359:p.Ala496Asp		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	hg19	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252974	0.80135	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.63255	-0.03	5.59	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88705	0.3218	10	0.87932	D	0	.	14.45	0.67379	0.0708:0.0:0.9292:0.0	.	496	Q9UP79	ATS8_HUMAN	D	496;525	ENSP00000257359:A496D	ENSP00000257359:A496D	A	-	2	0	ADAMTS8	129789715	1.000000	0.71417	0.873000	0.34254	0.657000	0.38888	3.871000	0.56077	1.355000	0.45865	0.655000	0.94253	GCT		0.657	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		T	130284505	G	T	130284505	3	4	299	1	0	0	0	0	1	0	0	0	272	971	34	4	1202	4	ADAMTS8	11	130284505	Missense_Mutation	SNP	G	TCGA-B9-5156-01A-01D-1589-08	44839365	130284505	4722011	51	17812											
ITPR2	3709	hgsc.bcm.edu	37	12	26553127	26553127	+	Silent	SNP	G	G	A	rs560385893		TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr12:26553127G>A	ENST00000381340.3	-	53	7880	c.7464C>T	c.(7462-7464)acC>acT	p.T2488T	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2488					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGTTCAGCACGGTGACAATGC	0.413													g|||	1	0.000199681	0.0	0.0	5008	,	,		14883	0.0		0.0	False		,,,				2504	0.001															0													122	119	120					12																	26553127		1920	4128	6048	SO:0001819	synonymous_variant	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7464C>T	chr12.hg19:g.26553127G>A			O94773	Silent	SNP	ENST00000381340.3	hg19	CCDS41764.1																																																																																				0.413	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		A	26553127	G	A	26553127	2	1	299	1	0	0	0	0	0	0	0	1	7923	1103	39	1		1	ITPR2	12	26553127	Silent	SNP	G	TCGA-B9-5156-01A-01D-1589-08		26553127	107298768	52	17813											
AMHR2	269	hgsc.bcm.edu	37	12	53824991	53824991	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr12:53824991G>C	ENST00000257863.4	+	11	1536	c.1456G>C	c.(1456-1458)Gac>Cac	p.D486H	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Missense_Mutation_p.D391H	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	486	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCTCCTAGAAGACTGTTGGGA	0.592																																																0													77	78	78					12																	53824991		2203	4300	6503	SO:0001583	missense	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1456G>C	chr12.hg19:g.53824991G>C	ENSP00000257863:p.Asp486His		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	hg19	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579839	0.86645	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	T;D	0.93247	-0.21;-3.19	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39834	N	0.001257	D	0.95484	0.8533	L	0.56340	1.77	0.30411	N	0.779055	D	0.89917	1.0	D	0.97110	1.0	D	0.92996	0.6419	10	0.87932	D	0	.	15.3949	0.74784	0.0:0.0:1.0:0.0	.	486	Q16671	AMHR2_HUMAN	H	486;391	ENSP00000257863:D486H;ENSP00000369117:D391H	ENSP00000257863:D486H	D	+	1	0	AMHR2	52111258	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.206000	0.77891	2.691000	0.91804	0.563000	0.77884	GAC		0.592	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		C	53824991	G	C	53824991	3	2	299	1	0	0	0	0	1	0	0	0	573	942	33	4	1498	4	AMHR2	12	53824991	Missense_Mutation	SNP	G	TCGA-B9-5156-01A-01D-1589-08	27271864	53824991	80026904	53	17814											
WSCD2	9671	hgsc.bcm.edu	37	12	108641980	108641980	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr12:108641980C>T	ENST00000332082.4	+	10	2376	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	WSCD2_ENST00000549903.1_Missense_Mutation_p.R540C|WSCD2_ENST00000547525.1_Missense_Mutation_p.R520C|WSCD2_ENST00000261400.3_Missense_Mutation_p.R540C			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	520						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAACTTCAAGCGCTCAGGGCT	0.602																																																0													59	66	64					12																	108641980		2036	4193	6229	SO:0001583	missense	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1558C>T	chr12.hg19:g.108641980C>T	ENSP00000331933:p.Arg520Cys		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	hg19	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.809847	0.70797	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.58060	0.36;3.98;0.36;3.98	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.78285	-0.2263	10	0.87932	D	0	-44.2877	16.1113	0.81266	0.0:1.0:0.0:0.0	.	540;520	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	C	520;540;520;540	ENSP00000448047:R520C;ENSP00000261400:R540C;ENSP00000331933:R520C;ENSP00000447272:R540C	ENSP00000261400:R540C	R	+	1	0	WSCD2	107166110	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.717000	0.68446	2.029000	0.59856	0.655000	0.94253	CGC		0.602	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		T	108641980	C	T	108641980	3	4	299	1	0	0	0	0	1	0	0	0	17412	768	27	1	1588	1	WSCD2	12	108641980	Missense_Mutation	SNP	C	TCGA-B9-5156-01A-01D-1589-08	54816989	108641980	25209915	54	17815											
FREM2	341640	hgsc.bcm.edu	37	13	39452997	39452997	+	Silent	SNP	C	C	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr13:39452997C>G	ENST00000280481.7	+	23	9105	c.8889C>G	c.(8887-8889)acC>acG	p.T2963T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2963					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACAAGCGACCAGTTTTGGAA	0.448																																																0													162	148	153					13																	39452997		2203	4300	6503	SO:0001819	synonymous_variant	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8889C>G	chr13.hg19:g.39452997C>G			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	hg19	CCDS31960.1																																																																																				0.448	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39452997	C	G	39452997	2	3	299	1	0	0	0	0	0	0	0	1	6047	581	21	4		4	FREM2	13	39452997	Silent	SNP	C	TCGA-B9-5156-01A-01D-1589-08		39452997	75716881	55	17816											
C13orf23	80209	hgsc.bcm.edu	37	13	39587574	39587574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr13:39587574delA	ENST00000352251.3	-	11	2648	c.1815delT	c.(1813-1815)gttfs	p.V605fs	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Frame_Shift_Del_p.V583fs	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	605	Ser-rich.																TTTTGATCATAACAGGAAGAG	0.517																																																0													153	163	159					13																	39587574		2203	4300	6503	SO:0001589	frameshift_variant	80209			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1815delT	chr13.hg19:g.39587574delA	ENSP00000332034:p.Val605fs		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Frame_Shift_Del	DEL	ENST00000352251.3	hg19	CCDS9368.2																																																																																				0.517	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		-	39587574	A	-	39587574	7	5	299	1	0	1	0	1	0	0	0	0	1723	349	13	0	1031	0	C13orf23	13	39587574	Frame_Shift_Del	DEL	A	TCGA-B9-5156-01A-01D-1589-08	134577	39587574	75582304	56	17817											
MYH6	4624	hgsc.bcm.edu	37	14	23862897	23862897	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr14:23862897T>G	ENST00000356287.3	-	21	2935	c.2906A>C	c.(2905-2907)gAg>gCg	p.E969A	MYH6_ENST00000405093.3_Missense_Mutation_p.E969A			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	969					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGCATGCTTCTCCTTCTCCAC	0.562																																																0													206	174	185					14																	23862897		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2906A>C	chr14.hg19:g.23862897T>G	ENSP00000348634:p.Glu969Ala		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	hg19	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	t	18.08	3.544179	0.65198	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.92911	-3.13;-3.13	4.95	4.95	0.65309	.	.	.	.	.	D	0.95143	0.8426	H	0.94964	3.605	0.58432	D	0.999999	P	0.35527	0.507	B	0.41764	0.366	D	0.95789	0.8823	9	0.62326	D	0.03	.	14.9359	0.70954	0.0:0.0:0.0:1.0	.	969	P13533	MYH6_HUMAN	A	969	ENSP00000386041:E969A;ENSP00000348634:E969A	ENSP00000348634:E969A	E	-	2	0	MYH6	22932737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	1.992000	0.58205	0.528000	0.53228	GAG		0.562	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			G	23862897	T	G	23862897	3	3	299	1	0	0	0	0	1	0	0	0	10040	1551	54	5	2985	5	MYH6	14	23862897	Missense_Mutation	SNP	T	TCGA-B9-5156-01A-01D-1589-08		23862897	83486643	57	17818											
MYH7	4625	hgsc.bcm.edu	37	14	23897724	23897724	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr14:23897724A>C	ENST00000355349.3	-	15	1725	c.1563T>G	c.(1561-1563)atT>atG	p.I521M		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	521	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGATGAGGTCAATGCAGGCCT	0.517																																																0													231	168	189					14																	23897724		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1563T>G	chr14.hg19:g.23897724A>C	ENSP00000347507:p.Ile521Met		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.084286	0.55861	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.96396	-4.0	4.63	-6.69	0.01772	Myosin head, motor domain (3);	.	.	.	.	D	0.98865	0.9616	H	0.98769	4.325	0.47476	D	0.999438	P	0.35551	0.509	D	0.63192	0.912	D	0.97432	1.0016	9	0.87932	D	0	.	16.9993	0.86377	0.8517:0.0:0.1483:0.0	.	521	P12883	MYH7_HUMAN	M	521	ENSP00000347507:I521M	ENSP00000347507:I521M	I	-	3	3	MYH7	22967564	0.716000	0.27956	0.769000	0.31535	0.940000	0.58332	-0.030000	0.12308	-1.432000	0.01979	-1.028000	0.02416	ATT		0.517	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		C	23897724	A	C	23897724	3	2	299	1	0	0	0	0	1	0	0	0	10041	126	5	5	4348	5	MYH7	14	23897724	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08	34827	23897724	83451816	58	17819											
RIPK3	11035	hgsc.bcm.edu	37	14	24805465	24805465	+	Silent	SNP	G	G	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr14:24805465G>T	ENST00000216274.5	-	10	1691	c.1473C>A	c.(1471-1473)ccC>ccA	p.P491P	ADCY4_ENST00000396747.3_5'Flank|ADCY4_ENST00000310677.4_5'Flank|RIPK3_ENST00000554338.1_5'Flank|ADCY4_ENST00000554068.2_5'Flank|RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000418030.2_5'Flank|ADCY4_ENST00000558563.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	491					activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CTACTGGTGGGGGGTGCTGCA	0.542																																					Pancreas(58;918 1191 4668 13304 15331)											0													75	78	77					14																	24805465		2203	4300	6503	SO:0001819	synonymous_variant	11035			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.1473C>A	chr14.hg19:g.24805465G>T			B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Silent	SNP	ENST00000216274.5	hg19	CCDS9628.1																																																																																				0.542	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		T	24805465	G	T	24805465	2	4	299	1	0	0	0	0	0	0	0	1	13388	1219	43	4		4	RIPK3	14	24805465	Silent	SNP	G	TCGA-B9-5156-01A-01D-1589-08	907741	24805465	82544075	59	17820											
NR2E3	10002	hgsc.bcm.edu	37	15	72104834	72104834	+	RNA	SNP	C	C	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr15:72104834C>T	ENST00000398840.2	+	0	920							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						GTTCTCCAGCCTGCCCTTCCG	0.647																																																0													48	54	52					15																	72104834		2027	4165	6192			10002				CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"Nuclear hormone receptors"	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		chr15.hg19:g.72104834C>T			B6ZGU0|Q9UHM4	Silent	SNP	ENST00000398840.2	hg19																																																																																					0.647	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		T	72104834	C	T	72104834	1	4	299	0	1	0	0	0	0	0	0	0	10628	680	24	2		2	NR2E3	15	72104834	RNA	SNP	C	TCGA-B9-5156-01A-01D-1589-08		72104834	30426558	60	17821											
PKD1	5310	hgsc.bcm.edu	37	16	2155892	2155892	+	Silent	SNP	A	A	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr16:2155892A>G	ENST00000262304.4	-	20	8045	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.L2613L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2613	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		Missing (in PKD1; unknown pathological significance). {ECO:0000269|PubMed:11571556}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L2613L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657																																																1	Substitution - coding silent(1)	lung(1)											46	45	45					16																	2155892		1400	2465	3865	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7837T>C	chr16.hg19:g.2155892A>G			Q15140|Q15141	Silent	SNP	ENST00000262304.4	hg19	CCDS32369.1																																																																																				0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2155892	A	G	2155892	2	3	299	1	0	0	0	0	0	0	0	1	11965	40	2	3		3	PKD1	16	2155892	Silent	SNP	A	TCGA-B9-5156-01A-01D-1589-08		2155892	88198861	61	17822											
MYLK3	91807	hgsc.bcm.edu	37	16	46766187	46766187	+	Silent	SNP	C	C	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr16:46766187C>T	ENST00000394809.4	-	4	1510	c.1395G>A	c.(1393-1395)agG>agA	p.R465R	MYLK3_ENST00000536476.1_Silent_p.R124R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	465					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCACCGGAGCCCTGGCTGCAC	0.657																																																0													35	39	37					16																	46766187		2203	4300	6503	SO:0001819	synonymous_variant	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1395G>A	chr16.hg19:g.46766187C>T			B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	hg19	CCDS10723.2																																																																																				0.657	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		T	46766187	C	T	46766187	2	4	299	1	0	0	0	0	0	0	0	1	10060	622	22	2		2	MYLK3	16	46766187	Silent	SNP	C	TCGA-B9-5156-01A-01D-1589-08	44610295	46766187	43588566	62	17823											
AMFR	267	hgsc.bcm.edu	37	16	56435720	56435720	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr16:56435720T>C	ENST00000290649.5	-	8	1220	c.1010A>G	c.(1009-1011)aAc>aGc	p.N337S		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	337					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GTCGTCATTGTTGACAGCCAG	0.522																																					Pancreas(2;144 323 39528)											0													113	106	109					16																	56435720		2198	4300	6498	SO:0001583	missense	267			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1010A>G	chr16.hg19:g.56435720T>C	ENSP00000290649:p.Asn337Ser		P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	hg19	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281024	0.80692	.	.	ENSG00000159461	ENST00000290649	T	0.66280	-0.2	5.63	5.63	0.86233	Zinc finger, RING/FYVE/PHD-type (1);	0.083860	0.85682	D	0.000000	T	0.54515	0.1863	L	0.50333	1.59	0.80722	D	1	P	0.37061	0.58	B	0.34590	0.186	T	0.52823	-0.8524	10	0.13108	T	0.6	-19.7475	15.8526	0.78943	0.0:0.0:0.0:1.0	.	337	Q9UKV5	AMFR2_HUMAN	S	337	ENSP00000290649:N337S	ENSP00000290649:N337S	N	-	2	0	AMFR	54993221	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.862000	0.87013	2.141000	0.66446	0.528000	0.53228	AAC		0.522	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			C	56435720	T	C	56435720	3	2	299	1	0	0	0	0	1	0	0	0	571	1725	60	3	949	3	AMFR	16	56435720	Missense_Mutation	SNP	T	TCGA-B9-5156-01A-01D-1589-08	9669533	56435720	33919033	63	17824											
EFCAB5	374786	hgsc.bcm.edu	37	17	28405254	28405255	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr17:28405254_28405255insA	ENST00000394835.3	+	15	2951_2952	c.2759_2760insA	c.(2758-2763)ccaaagfs	p.PK920fs	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Frame_Shift_Ins_p.PK796fs	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	920							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATCCAATTTCCAAAGCCACACC	0.411																																																0																																										SO:0001589	frameshift_variant	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2762dupA	chr17.hg19:g.28405257_28405257dupA	ENSP00000378312:p.Pro920fs		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Frame_Shift_Ins	INS	ENST00000394835.3	hg19	CCDS11254.2																																																																																				0.411	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		A	28405255	-	A	28405254	7	5	299	1	0	1	1	0	0	0	0	0	4940	594	21	0	2984	0	EFCAB5	17	28405254	Frame_Shift_Ins	INS	-	TCGA-B9-5156-01A-01D-1589-08		28405254	52789956	64	17825											
SMAD4	4089	hgsc.bcm.edu	37	18	48581177	48581177	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr18:48581177G>A	ENST00000342988.3	+	5	1019	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	SMAD4_ENST00000398417.2_Missense_Mutation_p.E161K|SMAD4_ENST00000588745.1_Missense_Mutation_p.E161K|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	161					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGTGAAGGATGAATATGTGCA	0.358																																																39	Whole gene deletion(36)|Unknown(3)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											127	92	104					18																	48581177		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.481G>A	chr18.hg19:g.48581177G>A	ENSP00000341551:p.Glu161Lys		A8K405	Missense_Mutation	SNP	ENST00000342988.3	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555908	0.96514	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97688	-4.49;-4.49	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.96975	0.9012	M	0.67397	2.05	0.80722	D	1	P	0.44195	0.828	B	0.41666	0.363	D	0.97207	0.9868	10	0.59425	D	0.04	.	19.1262	0.93386	0.0:0.0:1.0:0.0	.	161	Q13485	SMAD4_HUMAN	K	161	ENSP00000341551:E161K;ENSP00000381452:E161K	ENSP00000341551:E161K	E	+	1	0	SMAD4	46835175	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.567000	0.98161	2.890000	0.99128	0.585000	0.79938	GAA		0.358	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		A	48581177	G	A	48581177	3	1	299	1	0	0	0	0	1	0	0	0	14766	1291	45	2	495	2	SMAD4	18	48581177	Missense_Mutation	SNP	G	TCGA-B9-5156-01A-01D-1589-08		48581177	29496071	65	17826	138	2									
SMAD4	4089	hgsc.bcm.edu	37	18	48581187	48581187	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr18:48581187A>G	ENST00000342988.3	+	5	1029	c.491A>G	c.(490-492)cAt>cGt	p.H164R	SMAD4_ENST00000398417.2_Missense_Mutation_p.H164R|SMAD4_ENST00000588745.1_Missense_Mutation_p.H164R|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	164					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAATATGTGCATGACTTTGAG	0.368																																																39	Whole gene deletion(36)|Unknown(3)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											148	105	119					18																	48581187		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.491A>G	chr18.hg19:g.48581187A>G	ENSP00000341551:p.His164Arg		A8K405	Missense_Mutation	SNP	ENST00000342988.3	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154905	0.38021	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97378	-4.36;-4.36	5.86	4.64	0.57946	.	0.115658	0.64402	D	0.000020	D	0.92753	0.7696	L	0.29908	0.895	0.80722	D	1	B	0.25904	0.137	B	0.17979	0.02	D	0.90115	0.4195	10	0.20046	T	0.44	.	12.835	0.57767	0.8649:0.1351:0.0:0.0	.	164	Q13485	SMAD4_HUMAN	R	164	ENSP00000341551:H164R;ENSP00000381452:H164R	ENSP00000341551:H164R	H	+	2	0	SMAD4	46835185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.912000	0.48782	2.367000	0.80283	0.528000	0.53228	CAT		0.368	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		G	48581187	A	G	48581187	3	3	299	1	0	0	0	0	1	0	0	0	14766	217	8	3	505	3	SMAD4	18	48581187	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08	10	48581187	29496061	66	17827	138	2									
RNF152	220441	hgsc.bcm.edu	37	18	59483577	59483577	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr18:59483577C>A	ENST00000312828.3	-	2	1219	c.120G>T	c.(118-120)caG>caT	p.Q40H		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	40					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TCCTCATCTGCTGCAGGCACA	0.622																																																0													48	50	49					18																	59483577		2203	4300	6503	SO:0001583	missense	220441			AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"RING-type (C3HC4) zinc fingers"	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.120G>T	chr18.hg19:g.59483577C>A	ENSP00000316628:p.Gln40His		B3KV99|Q52LA4	Missense_Mutation	SNP	ENST00000312828.3	hg19	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404965	0.62288	.	.	ENSG00000176641	ENST00000312828	D	0.92545	-3.06	4.97	4.97	0.65823	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.427187	0.24662	N	0.036625	D	0.91355	0.7273	L	0.37561	1.115	0.41272	D	0.986853	P	0.37781	0.608	P	0.45998	0.5	D	0.91326	0.5086	10	0.48119	T	0.1	-30.3756	18.4187	0.90579	0.0:1.0:0.0:0.0	.	40	Q8N8N0	RN152_HUMAN	H	40	ENSP00000316628:Q40H	ENSP00000316628:Q40H	Q	-	3	2	RNF152	57634557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.177000	0.58276	2.600000	0.87896	0.655000	0.94253	CAG		0.622	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557		A	59483577	C	A	59483577	3	1	299	1	0	0	0	0	1	0	0	0	13459	796	28	4	495	4	RNF152	18	59483577	Missense_Mutation	SNP	C	TCGA-B9-5156-01A-01D-1589-08	10902390	59483577	18593671	67	17828											
FZR1	51343	hgsc.bcm.edu	37	19	3527659	3527659	+	Silent	SNP	C	C	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr19:3527659C>A	ENST00000395095.3	+	6	501	c.501C>A	c.(499-501)ccC>ccA	p.P167P	FZR1_ENST00000441788.2_Silent_p.P167P|FZR1_ENST00000313639.8_Intron	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	167					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGAAACCCACCCGCAAGA	0.622																																																0													65	55	59					19																	3527659		2199	4296	6495	SO:0001819	synonymous_variant	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.501C>A	chr19.hg19:g.3527659C>A			O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Silent	SNP	ENST00000395095.3	hg19	CCDS45916.1																																																																																				0.622	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		A	3527659	C	A	3527659	2	1	299	1	0	0	0	0	0	0	0	1	6140	581	21	4		4	FZR1	19	3527659	Silent	SNP	C	TCGA-B9-5156-01A-01D-1589-08		3527659	55601324	68	17829											
MAP2K2	5605	hgsc.bcm.edu	37	19	4117623	4117623	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr19:4117623T>G	ENST00000262948.5	-	2	350	c.97A>C	c.(97-99)Aac>Cac	p.N33H	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	33					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	TCCACCAGGTTTGCCCTGCAG	0.607																																																0													61	63	62					19																	4117623		2203	4300	6503	SO:0001583	missense	5605			L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.97A>C	chr19.hg19:g.4117623T>G	ENSP00000262948:p.Asn33His			Missense_Mutation	SNP	ENST00000262948.5	hg19	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	t	10.40	1.339579	0.24339	.	.	ENSG00000126934	ENST00000262948	D	0.93189	-3.18	4.14	1.96	0.26148	.	0.114851	0.56097	N	0.000021	D	0.92057	0.7483	M	0.64997	1.995	0.80722	D	1	P	0.41597	0.756	P	0.45829	0.494	D	0.88376	0.2998	10	0.45353	T	0.12	-24.2755	10.059	0.42263	0.0:0.0:0.3226:0.6774	.	33	P36507	MP2K2_HUMAN	H	33	ENSP00000262948:N33H	ENSP00000262948:N33H	N	-	1	0	MAP2K2	4068623	1.000000	0.71417	0.448000	0.26945	0.147000	0.21601	4.829000	0.62737	0.137000	0.18759	0.454000	0.30748	AAC		0.607	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			G	4117623	T	G	4117623	3	3	299	1	0	0	0	0	1	0	0	0	9239	1841	64	5	1145	5	MAP2K2	19	4117623	Missense_Mutation	SNP	T	TCGA-B9-5156-01A-01D-1589-08	589964	4117623	55011360	69	17830											
KDM4B	23030	hgsc.bcm.edu	37	19	5082513	5082513	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr19:5082513C>A	ENST00000159111.4	+	9	1134	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	KDM4B_ENST00000536461.1_Missense_Mutation_p.Q306K|KDM4B_ENST00000381759.4_Missense_Mutation_p.Q306K	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	306	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGTGGCCACTCAGGTAAAAGC	0.597																																																0													33	35	35					19																	5082513		2203	4300	6503	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.916C>A	chr19.hg19:g.5082513C>A	ENSP00000159111:p.Gln306Lys		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	hg19	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174210	0.78452	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71222	-0.55;-0.55;-0.55	4.95	4.95	0.65309	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.064498	0.64402	D	0.000005	T	0.65450	0.2692	L	0.45285	1.41	0.52501	D	0.999957	B;B;P	0.38473	0.191;0.354;0.633	B;B;B	0.42738	0.268;0.283;0.396	T	0.62586	-0.6823	10	0.05436	T	0.98	-39.1865	18.1627	0.89714	0.0:1.0:0.0:0.0	.	306;306;306	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	K	306	ENSP00000159111:Q306K;ENSP00000371178:Q306K;ENSP00000440495:Q306K	ENSP00000159111:Q306K	Q	+	1	0	KDM4B	5033513	0.999000	0.42202	0.991000	0.47740	0.913000	0.54294	4.054000	0.57434	2.304000	0.77564	0.462000	0.41574	CAG		0.597	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		A	5082513	C	A	5082513	3	1	299	1	0	0	0	0	1	0	0	0	8131	827	29	4	942	4	KDM4B	19	5082513	Missense_Mutation	SNP	C	TCGA-B9-5156-01A-01D-1589-08	964890	5082513	54046470	70	17831											
KANK2	25959	hgsc.bcm.edu	37	19	11304538	11304538	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr19:11304538A>T	ENST00000586659.1	-	4	532	c.218T>A	c.(217-219)cTg>cAg	p.L73Q	KANK2_ENST00000589894.1_Missense_Mutation_p.L73Q|KANK2_ENST00000355150.5_Missense_Mutation_p.L73Q|KANK2_ENST00000589359.1_Missense_Mutation_p.L73Q|KANK2_ENST00000432929.2_Missense_Mutation_p.L73Q			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	73					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCCACGGGGCAGCGAGCTCAG	0.672																																																0													35	37	36					19																	11304538		2203	4297	6500	SO:0001583	missense	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.218T>A	chr19.hg19:g.11304538A>T	ENSP00000465650:p.Leu73Gln		B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	hg19	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.853681	0.32791	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.48836	0.8;0.82	4.38	4.38	0.52667	.	0.000000	0.56097	D	0.000029	T	0.61800	0.2376	L	0.57536	1.79	0.35815	D	0.824149	D;D;D	0.89917	1.0;0.965;1.0	D;P;D	0.91635	0.999;0.862;0.999	T	0.67201	-0.5730	10	0.28530	T	0.3	-25.9043	12.5808	0.56390	1.0:0.0:0.0:0.0	.	73;73;73	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	Q	73	ENSP00000395650:L73Q;ENSP00000347276:L73Q	ENSP00000347276:L73Q	L	-	2	0	KANK2	11165538	1.000000	0.71417	0.540000	0.28089	0.038000	0.13279	6.295000	0.72744	1.616000	0.50265	0.379000	0.24179	CTG		0.672	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		T	11304538	A	T	11304538	3	4	299	1	0	0	0	0	1	0	0	0	7979	188	7	5	2401	5	KANK2	19	11304538	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08	6222025	11304538	47824445	71	17832											
ZNF791	163049	hgsc.bcm.edu	37	19	12739559	12739559	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr19:12739559C>A	ENST00000343325.4	+	4	1378	c.1216C>A	c.(1216-1218)Cac>Aac	p.H406N	AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000540038.1_Missense_Mutation_p.H297N|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.H374N|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CAAGAGAAATCACACTGGAGA	0.393																																																0													90	99	96					19																	12739559		2203	4300	6503	SO:0001583	missense	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1216C>A	chr19.hg19:g.12739559C>A	ENSP00000342974:p.His406Asn		B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	hg19	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828830	0.50845	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.67345	-0.26;-0.26;-0.26	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81959	0.4933	M	0.88640	2.97	0.30637	N	0.756821	D	0.76494	0.999	D	0.91635	0.999	T	0.77763	-0.2466	9	0.87932	D	0	.	9.2247	0.37398	0.0:1.0:0.0:0.0	.	406	Q3KP31	ZN791_HUMAN	N	406;388;374;297	ENSP00000342974:H406N;ENSP00000441761:H374N;ENSP00000441038:H297N	ENSP00000342974:H406N	H	+	1	0	ZNF791	12600559	1.000000	0.71417	0.865000	0.33974	0.967000	0.64934	4.955000	0.63638	1.007000	0.39238	0.491000	0.48974	CAC		0.393	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		A	12739559	C	A	12739559	3	1	299	1	0	0	0	0	1	0	0	0	18168	826	29	4	1230	4	ZNF791	19	12739559	Missense_Mutation	SNP	C	TCGA-B9-5156-01A-01D-1589-08	1435021	12739559	46389424	72	17833											
ZNF260	339324	hgsc.bcm.edu	37	19	37005333	37005333	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr19:37005333G>A	ENST00000523638.1	-	3	1929	c.808C>T	c.(808-810)Cat>Tat	p.H270Y	ZNF260_ENST00000588993.1_Missense_Mutation_p.H270Y|ZNF260_ENST00000592282.1_Missense_Mutation_p.H270Y|ZNF260_ENST00000593142.1_Missense_Mutation_p.H270Y	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	270					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TCTCCAATATGAATTTTCTCA	0.398																																																0													123	122	122					19																	37005333		2203	4300	6503	SO:0001583	missense	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.808C>T	chr19.hg19:g.37005333G>A	ENSP00000429803:p.His270Tyr		Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	hg19	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335259	0.81801	.	.	ENSG00000254004	ENST00000523638	T	0.67523	-0.27	4.54	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85720	0.5762	M	0.92412	3.305	0.50632	D	0.999883	D	0.89917	1.0	D	0.91635	0.999	D	0.89435	0.3719	9	0.87932	D	0	.	16.5613	0.84567	0.0:0.0:1.0:0.0	.	270	Q3ZCT1	ZN260_HUMAN	Y	270	ENSP00000429803:H270Y	ENSP00000429803:H270Y	H	-	1	0	ZNF260	41697173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.645000	0.83430	2.496000	0.84212	0.561000	0.74099	CAT		0.398	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		A	37005333	G	A	37005333	3	1	299	1	0	0	0	0	1	0	0	0	17807	1290	45	2	434	2	ZNF260	19	37005333	Missense_Mutation	SNP	G	TCGA-B9-5156-01A-01D-1589-08	24265774	37005333	22123650	73	17834											
FITM2	128486	hgsc.bcm.edu	37	20	42935425	42935425	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr20:42935425G>T	ENST00000396825.3	-	2	649	c.629C>A	c.(628-630)gCt>gAt	p.A210D		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	210					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						GAAATAAACAGCTGTGCACAG	0.522																																																0													99	83	88					20																	42935425		2203	4300	6503	SO:0001583	missense	128486			BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"fat inducing transcript 2"	612029	"chromosome 20 open reading frame 142"	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.629C>A	chr20.hg19:g.42935425G>T	ENSP00000380037:p.Ala210Asp		A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	ENST00000396825.3	hg19	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600365	0.87055	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.57	5.57	0.84162	.	0.217055	0.48286	D	0.000191	D	0.82747	0.5104	M	0.84082	2.675	0.80722	D	1	D	0.63880	0.993	D	0.63877	0.919	T	0.83306	-0.0025	9	0.48119	T	0.1	.	19.5462	0.95299	0.0:0.0:1.0:0.0	.	210	Q8N6M3	FITM2_HUMAN	D	210	.	ENSP00000380037:A210D	A	-	2	0	FITM2	42368839	1.000000	0.71417	0.620000	0.29132	0.912000	0.54170	9.397000	0.97276	2.609000	0.88269	0.563000	0.77884	GCT		0.522	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		T	42935425	G	T	42935425	3	4	299	1	0	0	0	0	1	0	0	0	5901	971	34	4	163	4	FITM2	20	42935425	Missense_Mutation	SNP	G	TCGA-B9-5156-01A-01D-1589-08		42935425	20090095	74	17835											
MYH9	4627	hgsc.bcm.edu	37	22	36716872	36716872	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chr22:36716872A>T	ENST00000216181.5	-	8	1069	c.839T>A	c.(838-840)cTc>cAc	p.L280H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	280	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCCAGACAGGAGATAATAGAA	0.532			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													74	70	71					22																	36716872		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.839T>A	chr22.hg19:g.36716872A>T	ENSP00000216181:p.Leu280His		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	hg19	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.937579	0.92458	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.94092	-3.35	5.13	5.13	0.70059	Myosin head, motor domain (2);	0.073236	0.53938	D	0.000057	D	0.97405	0.9151	H	0.99357	4.53	0.80722	D	1	D	0.63880	0.993	P	0.51895	0.683	D	0.98753	1.0721	10	0.87932	D	0	.	14.9048	0.70709	1.0:0.0:0.0:0.0	.	280	P35579	MYH9_HUMAN	H	144;280	ENSP00000216181:L280H	ENSP00000216181:L280H	L	-	2	0	MYH9	35046818	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.287000	0.95975	2.053000	0.61076	0.482000	0.46254	CTC		0.532	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		T	36716872	A	T	36716872	3	4	299	1	0	0	0	0	1	0	0	0	10044	304	11	5	5179	5	MYH9	22	36716872	Missense_Mutation	SNP	A	TCGA-B9-5156-01A-01D-1589-08		36716872	14587694	75	17836											
USP9X	8239	hgsc.bcm.edu	37	X	40999924	40999924	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-5156-01A-01D-1589-08	TCGA-B9-5156-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8faa0a9e-10a4-41ed-8293-e403028434e8	8355a879-8264-4bba-88a4-f6db446dffa8	g.chrX:40999924C>A	ENST00000324545.8	+	7	1303	c.670C>A	c.(670-672)Ctt>Att	p.L224I	USP9X_ENST00000378308.2_Missense_Mutation_p.L224I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	224					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCTAGTGGATCTTCTCAACAA	0.318																																					Ovarian(172;1807 2695 35459 49286)											0													111	99	103					X																	40999924		2203	4298	6501	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.670C>A	chrX.hg19:g.40999924C>A	ENSP00000316357:p.Leu224Ile		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	hg19	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926912	0.73327	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03982	3.75;3.74	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	M	0.79475	2.455	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.963	T	0.00104	-1.2059	10	0.45353	T	0.12	.	19.5004	0.95091	0.0:1.0:0.0:0.0	.	224;224	Q93008-1;Q93008	.;USP9X_HUMAN	I	224	ENSP00000367558:L224I;ENSP00000316357:L224I	ENSP00000316357:L224I	L	+	1	0	USP9X	40884868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.611000	0.61162	2.560000	0.86352	0.594000	0.82650	CTT		0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	40999924	C	A	40999924	3	1	299	1	0	0	0	0	1	0	0	0	17095	913	32	4	692	4	USP9X	23	40999924	Missense_Mutation	SNP	C	TCGA-B9-5156-01A-01D-1589-08		40999924	114270636	76	17837											
PABPC4	8761	hgsc.bcm.edu	37	1	40029530	40029530	+	Silent	SNP	C	C	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:40029530C>T	ENST00000372857.3	-	11	2262	c.1470G>A	c.(1468-1470)ctG>ctA	p.L490L	PABPC4_ENST00000372858.3_Silent_p.L506L|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	490					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCTGTCAGTCAGCCCTTGCT	0.557																																																0													60	61	61					1																	40029530		2203	4300	6503	SO:0001819	synonymous_variant	8761			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1470G>A	chr1.hg19:g.40029530C>T			B1ANQ8|Q4VC03|Q6P0N3	Silent	SNP	ENST00000372857.3	hg19	CCDS438.1																																																																																				0.557	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		T	40029530	C	T	40029530	2	4	300	1	0	0	0	0	0	0	0	1	11368	813	29	2		2	PABPC4	1	40029530	Silent	SNP	C	TCGA-B9-7268-01A-11D-2136-08		40029530	209221091	1	17838											
BEST4	266675	hgsc.bcm.edu	37	1	45250593	45250593	+	Missense_Mutation	SNP	A	A	G	rs377207881		TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:45250593A>G	ENST00000372207.3	-	7	976	c.977T>C	c.(976-978)aTa>aCa	p.I326T		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	326						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GTTGCGGTCTATGAGCTGATT	0.562																																																0													76	81	79					1																	45250593		2203	4300	6503	SO:0001583	missense	266675			AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17106	protein-coding gene	gene with protein product		607336	"vitelliform macular dystrophy 2-like 2"	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.977T>C	chr1.hg19:g.45250593A>G	ENSP00000361281:p.Ile326Thr		Q5JR93	Missense_Mutation	SNP	ENST00000372207.3	hg19	CCDS514.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072846	0.76415	.	.	ENSG00000142959	ENST00000372207	D	0.99270	-5.66	5.19	4.07	0.47477	.	0.051148	0.85682	D	0.000000	D	0.99518	0.9828	H	0.96269	3.795	0.51767	D	0.999939	D	0.71674	0.998	D	0.74348	0.983	D	0.98708	1.0703	10	0.87932	D	0	-16.684	9.7184	0.40289	0.9183:0.0:0.0816:0.0	.	326	Q8NFU0	BEST4_HUMAN	T	326	ENSP00000361281:I326T	ENSP00000361281:I326T	I	-	2	0	BEST4	45023180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.946000	0.70234	0.998000	0.38996	0.533000	0.62120	ATA		0.562	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274		G	45250593	A	G	45250593	3	3	300	1	0	0	0	0	1	0	0	0	1407	449	16	3	456	3	BEST4	1	45250593	Missense_Mutation	SNP	A	TCGA-B9-7268-01A-11D-2136-08	5221063	45250593	204000028	2	17839											
STXBP3	6814	hgsc.bcm.edu	37	1	109302625	109302625	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:109302625T>G	ENST00000370008.3	+	6	406	c.356T>G	c.(355-357)tTt>tGt	p.F119C		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	119	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GATAATCTCTTTAACAAAATT	0.289																																																0													92	106	101					1																	109302625		2203	4288	6491	SO:0001583	missense	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.356T>G	chr1.hg19:g.109302625T>G	ENSP00000359025:p.Phe119Cys		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	hg19	CCDS790.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.861971	0.71949	.	.	ENSG00000116266	ENST00000370008	T	0.77098	-1.07	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	M	0.84846	2.72	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.89069	0.3468	10	0.62326	D	0.03	-18.7523	15.3518	0.74396	0.0:0.0:0.0:1.0	.	119	O00186	STXB3_HUMAN	C	119	ENSP00000359025:F119C	ENSP00000359025:F119C	F	+	2	0	STXBP3	109104148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.164000	0.71885	2.110000	0.64415	0.477000	0.44152	TTT		0.289	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		G	109302625	T	G	109302625	3	3	300	1	0	0	0	0	1	0	0	0	15359	1841	64	5	378	5	STXBP3	1	109302625	Missense_Mutation	SNP	T	TCGA-B9-7268-01A-11D-2136-08	64052032	109302625	139947996	3	17840											
C1orf54	79630	hgsc.bcm.edu	37	1	150248209	150248212	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	GTGA	GTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:150248209_150248212delGTGA	ENST00000369102.1	+	5	959		c.e5+1		C1orf54_ENST00000369098.3_Splice_Site|C1orf54_ENST00000369099.3_Splice_Site			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54							extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACAGGCTGGTGAGTGAACTCTA	0.407																																																0																																										SO:0001630	splice_region_variant	79630			BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.189+1GTGA>-	chr1.hg19:g.150248213_150248216delGTGA			Q9H5P3	Frame_Shift_Del	DEL	ENST00000369102.1	hg19	CCDS948.1																																																																																				0.407	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035055.1	NM_024579	Intron	-	150248212	GTGA	-	150248209	8	5	300	1	0	1	0	1	0	0	1	0	2048	1275	44	0	200	0	C1orf54	1	150248209	Splice_Site	DEL	GTGA	TCGA-B9-7268-01A-11D-2136-08	40945584	150248209	99002412	4	17841											
ZNF687	57592	hgsc.bcm.edu	37	1	151259373	151259373	+	Silent	SNP	C	C	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:151259373C>G	ENST00000368879.2	+	2	704	c.606C>G	c.(604-606)gcC>gcG	p.A202A		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	202	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGAGCTGGCCCAGGAGAATG	0.652																																																0													44	49	47					1																	151259373		2203	4300	6503	SO:0001819	synonymous_variant	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.606C>G	chr1.hg19:g.151259373C>G			D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP	ENST00000368879.2	hg19																																																																																					0.652	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		G	151259373	C	G	151259373	2	3	300	1	0	0	0	0	0	0	0	1	18097	610	22	4		4	ZNF687	1	151259373	Silent	SNP	C	TCGA-B9-7268-01A-11D-2136-08	1011164	151259373	97991248	5	17842											
SPRR1B	6699	hgsc.bcm.edu	37	1	153004965	153004965	+	Silent	SNP	C	C	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr1:153004965C>T	ENST00000307098.4	+	2	209	c.144C>T	c.(142-144)ccC>ccT	p.P48P	SPRR1B_ENST00000392661.3_Silent_p.P48P	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	48	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCTGAGCCCTGCCACCCCA	0.627																																																1	Deletion - In frame(1)	ovary(1)											123	123	123					1																	153004965		2203	4300	6503	SO:0001819	synonymous_variant	6699			M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"cornifin"	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.144C>T	chr1.hg19:g.153004965C>T			B2R5H7|P22529|P22530|Q5T524	Silent	SNP	ENST00000307098.4	hg19	CCDS30863.1																																																																																				0.627	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125		T	153004965	C	T	153004965	2	4	300	1	0	0	0	0	0	0	0	1	15101	668	24	2		2	SPRR1B	1	153004965	Silent	SNP	C	TCGA-B9-7268-01A-11D-2136-08	1745592	153004965	96245656	6	17843											
LTBP1	4052	hgsc.bcm.edu	37	2	33412000	33412000	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:33412000delG	ENST00000404816.2	+	6	1632	c.1279delG	c.(1279-1281)ggafs	p.G427fs	LTBP1_ENST00000404525.1_Frame_Shift_Del_p.G101fs|LTBP1_ENST00000402934.1_Frame_Shift_Del_p.G101fs|LTBP1_ENST00000390003.4_Frame_Shift_Del_p.G101fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.G101fs|LTBP1_ENST00000418533.2_Frame_Shift_Del_p.G101fs|LTBP1_ENST00000354476.3_Frame_Shift_Del_p.G427fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	427	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAATTTCACAGGAAAACTTTG	0.473																																																0													115	107	110					2																	33412000		2203	4300	6503	SO:0001589	frameshift_variant	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1279delG	chr2.hg19:g.33412000delG	ENSP00000386043:p.Gly427fs		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Frame_Shift_Del	DEL	ENST00000404816.2	hg19	CCDS33177.2																																																																																				0.473	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		-	33412000	G	-	33412000	7	5	300	1	0	1	0	1	0	0	0	0	9075	1001	35	0	1356	0	LTBP1	2	33412000	Frame_Shift_Del	DEL	G	TCGA-B9-7268-01A-11D-2136-08		33412000	209787373	7	17844	139	2									
LTBP1	4052	hgsc.bcm.edu	37	2	33412006	33412006	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:33412006C>A	ENST00000404816.2	+	6	1638	c.1285C>A	c.(1285-1287)Ctt>Att	p.L429I	LTBP1_ENST00000404525.1_Missense_Mutation_p.L103I|LTBP1_ENST00000402934.1_Missense_Mutation_p.L103I|LTBP1_ENST00000390003.4_Missense_Mutation_p.L103I|LTBP1_ENST00000407925.1_Missense_Mutation_p.L103I|LTBP1_ENST00000418533.2_Missense_Mutation_p.L103I|LTBP1_ENST00000354476.3_Missense_Mutation_p.L429I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	429	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACAGGAAAACTTTGTCAGAT	0.478																																																0													116	108	110					2																	33412006		2203	4300	6503	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1285C>A	chr2.hg19:g.33412006C>A	ENSP00000386043:p.Leu429Ile		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	hg19	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962600	0.53400	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	5.3	5.3	0.74995	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.87849	0.6281	L	0.32530	0.975	0.80722	D	1	B;B;B;B;B;B	0.25441	0.077;0.028;0.016;0.033;0.096;0.126	B;B;B;B;B;B	0.28709	0.043;0.016;0.017;0.027;0.05;0.093	D	0.85678	0.1299	9	0.66056	D	0.02	.	12.3249	0.55005	0.0:0.9228:0.0:0.0772	.	429;103;103;103;103;429	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	I	429;429;118;103;103;103;103;103	ENSP00000386043:L429I;ENSP00000346467:L429I;ENSP00000374653:L103I;ENSP00000393057:L103I;ENSP00000384373:L103I;ENSP00000385359:L103I;ENSP00000384091:L103I	ENSP00000346467:L429I	L	+	1	0	LTBP1	33265510	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.239000	0.58694	2.468000	0.83385	0.655000	0.94253	CTT		0.478	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		A	33412006	C	A	33412006	3	1	300	1	0	0	0	0	1	0	0	0	9075	565	20	4	1362	4	LTBP1	2	33412006	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08	6	33412006	209787367	8	17845	139	2									
GGCX	2677	hgsc.bcm.edu	37	2	85777685	85777685	+	Missense_Mutation	SNP	G	G	T	rs372492949		TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:85777685G>T	ENST00000233838.4	-	14	2157	c.2077C>A	c.(2077-2079)Cgc>Agc	p.R693S	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Missense_Mutation_p.R636S	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	693					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TACCTGCGGCGAAAGACATAG	0.468																																																0													53	56	55					2																	85777685		2203	4300	6503	SO:0001583	missense	2677				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.2077C>A	chr2.hg19:g.85777685G>T	ENSP00000233838:p.Arg693Ser		B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	hg19	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395574	0.83011	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	T;T	0.28895	1.59;1.59	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.72118	2.19	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	T	0.55302	-0.8162	10	0.54805	T	0.06	-15.286	17.5141	0.87768	0.0:0.0:1.0:0.0	.	636;509;693	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	S	693;636	ENSP00000233838:R693S;ENSP00000408045:R636S	ENSP00000233838:R693S	R	-	1	0	GGCX	85631196	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.029000	0.57253	2.730000	0.93505	0.655000	0.94253	CGC		0.468	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		T	85777685	G	T	85777685	3	4	300	1	0	0	0	0	1	0	0	0	6358	1058	37	4	207	4	GGCX	2	85777685	Missense_Mutation	SNP	G	TCGA-B9-7268-01A-11D-2136-08	52365679	85777685	157421688	9	17846											
NEB	4703	hgsc.bcm.edu	37	2	152507333	152507333	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:152507333C>T	ENST00000172853.10	-	53	7129	c.6982G>A	c.(6982-6984)Gac>Aac	p.D2328N	NEB_ENST00000603639.1_Missense_Mutation_p.D2328N|NEB_ENST00000397345.3_Missense_Mutation_p.D2328N|NEB_ENST00000409198.1_Missense_Mutation_p.D2328N|NEB_ENST00000604864.1_Missense_Mutation_p.D2328N|NEB_ENST00000427231.2_Missense_Mutation_p.D2328N			P20929	NEBU_HUMAN	nebulin	2328					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTTTTGGGTCATCTTGCAGA	0.413																																																0													187	191	190					2																	152507333		1983	4164	6147	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6982G>A	chr2.hg19:g.152507333C>T	ENSP00000172853:p.Asp2328Asn		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	hg19		.	.	.	.	.	.	.	.	.	.	C	34	5.297627	0.95574	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77461	-0.2579	10	0.34782	T	0.22	.	19.3325	0.94297	0.0:1.0:0.0:0.0	.	2328	P20929	NEBU_HUMAN	N	2328	ENSP00000386259:D2328N;ENSP00000380505:D2328N;ENSP00000416578:D2328N;ENSP00000172853:D2328N	ENSP00000172853:D2328N	D	-	1	0	NEB	152215579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.770000	0.85390	2.583000	0.87209	0.650000	0.86243	GAC		0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152507333	C	T	152507333	3	4	300	1	0	0	0	0	1	0	0	0	10304	826	29	2	19224	2	NEB	2	152507333	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08	66729648	152507333	90692040	10	17847											
RAPGEF4	11069	hgsc.bcm.edu	37	2	173832042	173832042	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:173832042G>A	ENST00000397081.3	+	10	1017	c.874G>A	c.(874-876)Gat>Aat	p.D292N	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.D292N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.D72N|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.D121N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.D148N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.D139N|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.D291N|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.D139N	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	292					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATTTCTGGATGATGAGCACGA	0.527																																																0													51	53	52					2																	173832042		2072	4228	6300	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.874G>A	chr2.hg19:g.173832042G>A	ENSP00000380271:p.Asp292Asn		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	hg19	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453522	0.96223	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	5.31	5.31	0.75309	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D	0.89917	0.993;1.0;0.996;0.992;1.0	P;D;D;P;D	0.87578	0.897;0.998;0.948;0.889;0.996	T	0.28681	-1.0036	10	0.72032	D	0.01	.	18.9765	0.92738	0.0:0.0:1.0:0.0	.	119;121;148;292;292	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	N	291;292;292;148;121;139;139;119;72	ENSP00000264111:D291N;ENSP00000380271:D292N;ENSP00000387104:D292N;ENSP00000380276:D148N;ENSP00000440135:D121N;ENSP00000440250:D139N;ENSP00000437384:D139N;ENSP00000438011:D72N	ENSP00000264111:D291N	D	+	1	0	RAPGEF4	173540288	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	9.822000	0.99363	2.478000	0.83669	0.561000	0.74099	GAT		0.527	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		A	173832042	G	A	173832042	3	1	300	1	0	0	0	0	1	0	0	0	13052	1290	45	2	928	2	RAPGEF4	2	173832042	Missense_Mutation	SNP	G	TCGA-B9-7268-01A-11D-2136-08	21324709	173832042	69367331	11	17848											
TNS1	7145	hgsc.bcm.edu	37	2	218712984	218712984	+	Silent	SNP	G	G	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:218712984G>C	ENST00000171887.4	-	17	2333	c.1881C>G	c.(1879-1881)ccC>ccG	p.P627P	TNS1_ENST00000430930.1_Silent_p.P627P|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_Silent_p.P627P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	627					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGGCAGCTGGGGTTCAGCTT	0.652																																																0													45	38	40					2																	218712984		2203	4299	6502	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1881C>G	chr2.hg19:g.218712984G>C			Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	hg19	CCDS2407.1																																																																																				0.652	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		C	218712984	G	C	218712984	2	2	300	1	0	0	0	0	0	0	0	1	16348	1219	43	4		4	TNS1	2	218712984	Silent	SNP	G	TCGA-B9-7268-01A-11D-2136-08	44880942	218712984	24486389	12	17849											
MYEOV2	150678	hgsc.bcm.edu	37	2	241073371	241073371	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr2:241073371C>G	ENST00000607357.1	-	2	133	c.115G>C	c.(115-117)Gtt>Ctt	p.V39L	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000307266.3_Missense_Mutation_p.V70L	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	39								p.V70F(1)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGCATGAACGGCCTTTTCA	0.483																																																1	Substitution - Missense(1)	lung(1)											127	130	129					2																	241073371		2203	4300	6503	SO:0001583	missense	150678			AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.115G>C	chr2.hg19:g.241073371C>G	ENSP00000475979:p.Val39Leu		Q8N110	Missense_Mutation	SNP	ENST00000607357.1	hg19		.	.	.	.	.	.	.	.	.	.	C	21.1	4.096434	0.76870	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	3.67	0.42095	.	0.000000	0.64402	U	0.000001	T	0.74137	0.3677	.	.	.	0.58432	D	0.999999	B;D	0.57899	0.04;0.981	B;P	0.62382	0.041;0.901	T	0.76203	-0.3045	8	0.72032	D	0.01	-4.0557	10.5952	0.45333	0.0:0.9036:0.0:0.0963	.	39;70	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	L	70;60	.	ENSP00000304147:V70L	V	-	1	0	MYEOV2	240722044	1.000000	0.71417	0.472000	0.27241	0.971000	0.66376	6.092000	0.71414	1.042000	0.40150	0.650000	0.86243	GTT		0.483	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		G	241073371	C	G	241073371	3	3	300	1	0	0	0	0	1	0	0	0	10028	536	19	4	570	4	MYEOV2	2	241073371	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08	22360387	241073371	2126002	13	17850											
TTLL3	26140	hgsc.bcm.edu	37	3	9877081	9877081	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr3:9877081G>A	ENST00000547186.1	+	13	2443	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.V886M|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	743					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AAAGAAACAAGTGAAGTATTT	0.567																																																0													122	128	126					3																	9877081		1906	4123	6029	SO:0001583	missense	26140				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.2227G>A	chr3.hg19:g.9877081G>A	ENSP00000446659:p.Val743Met		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.673	1.147353	0.21288	.	.	ENSG00000214021	ENST00000426895;ENST00000547186	T;T	0.06294	3.32;3.44	3.94	-1.13	0.09775	.	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.14023	0.01	T	0.42275	-0.9461	9	0.87932	D	0	.	3.4181	0.07382	0.437:0.0:0.3814:0.1815	.	743	Q9Y4R7	TTLL3_HUMAN	M	886;743	ENSP00000392549:V886M;ENSP00000446659:V743M	ENSP00000392549:V886M	V	+	1	0	TTLL3	9852081	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.357000	0.07651	-0.239000	0.09710	-0.314000	0.08810	GTG		0.567	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		A	9877081	G	A	9877081	3	1	300	1	0	0	0	0	1	0	0	0	16733	1029	36	2	2273	2	TTLL3	3	9877081	Missense_Mutation	SNP	G	TCGA-B9-7268-01A-11D-2136-08		9877081	188145349	14	17851											
NISCH	11188	hgsc.bcm.edu	37	3	52526307	52526307	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr3:52526307C>A	ENST00000479054.1	+	22	4396	c.4324C>A	c.(4324-4326)Ctc>Atc	p.L1442I	NISCH_ENST00000345716.4_Missense_Mutation_p.L1442I			Q9Y2I1	NISCH_HUMAN	nischarin	1442					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	AGGTCATGACCTCATGGGCAG	0.657																																																0													154	153	153					3																	52526307		2203	4300	6503	SO:0001583	missense	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4324C>A	chr3.hg19:g.52526307C>A	ENSP00000418232:p.Leu1442Ile		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	hg19	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107084	0.77096	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.13089	2.62;2.62	5.37	4.3	0.51218	.	0.078630	0.51477	D	0.000098	T	0.18800	0.0451	L	0.27053	0.805	0.37589	D	0.920105	D	0.67145	0.996	P	0.58210	0.835	T	0.02307	-1.1179	10	0.72032	D	0.01	-30.3479	11.4769	0.50304	0.0:0.8448:0.0:0.1552	.	1442	Q9Y2I1	NISCH_HUMAN	I	1442;1442;366;786	ENSP00000418232:L1442I;ENSP00000339958:L1442I	ENSP00000339958:L1442I	L	+	1	0	NISCH	52501347	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.763000	0.47605	2.535000	0.85469	0.561000	0.74099	CTC		0.657	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		A	52526307	C	A	52526307	3	1	300	1	0	0	0	0	1	0	0	0	10434	681	24	4	4406	4	NISCH	3	52526307	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08	42649226	52526307	145496123	15	17852											
KIAA2018	205717	hgsc.bcm.edu	37	3	113376680	113376680	+	Silent	SNP	G	G	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr3:113376680G>T	ENST00000478658.1	-	5	3866	c.3849C>A	c.(3847-3849)ggC>ggA	p.G1283G	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.G1283G			Q68DE3	K2018_HUMAN	KIAA2018	1283						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAGGTTGACTGCCATAGGAGC	0.468																																																0													109	105	106					3																	113376680		1947	4151	6098	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3849C>A	chr3.hg19:g.113376680G>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	hg19	CCDS43133.1																																																																																				0.468	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113376680	G	T	113376680	2	4	300	1	0	0	0	0	0	0	0	1	8270	1306	46	4		4	KIAA2018	3	113376680	Silent	SNP	G	TCGA-B9-7268-01A-11D-2136-08	60850373	113376680	84645750	16	17853											
KIAA1109	84162	hgsc.bcm.edu	37	4	123254840	123254840	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr4:123254840A>G	ENST00000264501.4	+	68	11895	c.11522A>G	c.(11521-11523)aAg>aGg	p.K3841R	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K3841R			Q2LD37	K1109_HUMAN	KIAA1109	3841	Poly-Lys.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAAGAAGAAGTTTCAAACT	0.348																																																0													80	72	74					4																	123254840		1827	4081	5908	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11522A>G	chr4.hg19:g.123254840A>G	ENSP00000264501:p.Lys3841Arg		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.586223|4.586223	0.86851|0.86851	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802	T;T;T|.	0.35421|.	2.32;2.32;1.31|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72120|0.72120	0.3421|0.3421	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.974;0.997|.	D;D|.	0.73380|.	0.969;0.98|.	T|T	0.70941|0.70941	-0.4735|-0.4735	10|5	0.45353|.	T|.	0.12|.	.|.	16.1413|16.1413	0.81528|0.81528	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3840;3841|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	R|G	3841;3841;545|252	ENSP00000264501:K3841R;ENSP00000373390:K3841R;ENSP00000410874:K545R|.	ENSP00000264501:K3841R|.	K|S	+|+	2|1	0|0	KIAA1109|KIAA1109	123474290|123474290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.910000|8.910000	0.92685|0.92685	2.270000|2.270000	0.75569|0.75569	0.482000|0.482000	0.46254|0.46254	AAG|AGT		0.348	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		G	123254840	A	G	123254840	3	3	300	1	0	0	0	0	1	0	0	0	8210	72	3	3	11784	3	KIAA1109	4	123254840	Missense_Mutation	SNP	A	TCGA-B9-7268-01A-11D-2136-08		123254840	67899436	17	17854											
CBR4	84869	hgsc.bcm.edu	37	4	169931208	169931208	+	Silent	SNP	G	G	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr4:169931208G>T	ENST00000306193.3	-	1	201	c.33C>A	c.(31-33)tcC>tcA	p.S11S	CBR4_ENST00000504480.1_Silent_p.S11S|RP11-483A20.3_ENST00000506933.1_RNA	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	11					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		CAATGCCTCGGGAGCCTCCAA	0.602											OREG0016397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													50	54	52					4																	169931208		2203	4300	6503	SO:0001819	synonymous_variant	84869			BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	25891	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 45C, member 1"					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.33C>A	chr4.hg19:g.169931208G>T		1881	Q8WTW8|Q96K93	Silent	SNP	ENST00000306193.3	hg19	CCDS3812.1																																																																																				0.602	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783		T	169931208	G	T	169931208	2	4	300	1	0	0	0	0	0	0	0	1	2712	1219	43	4		4	CBR4	4	169931208	Silent	SNP	G	TCGA-B9-7268-01A-11D-2136-08	46676368	169931208	21223068	18	17855											
FAT1	2195	hgsc.bcm.edu	37	4	187540602	187540602	+	Missense_Mutation	SNP	C	C	T	rs201352448		TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr4:187540602C>T	ENST00000441802.2	-	10	7347	c.7138G>A	c.(7138-7140)Gtt>Att	p.V2380I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2380	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGTCGGTAACGTCCACCGTG	0.502										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													67	68	67					4																	187540602		2106	4223	6329	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7138G>A	chr4.hg19:g.187540602C>T	ENSP00000406229:p.Val2380Ile			Missense_Mutation	SNP	ENST00000441802.2	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092207	0.36952	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.61510	0.1	5.14	4.3	0.51218	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.121633	0.56097	N	0.000035	T	0.38799	0.1054	N	0.26130	0.795	0.58432	D	0.999996	B	0.30851	0.297	B	0.25614	0.062	T	0.20306	-1.0279	10	0.22109	T	0.4	.	9.4366	0.38643	0.0:0.8376:0.0:0.1624	.	2380	Q14517	FAT1_HUMAN	I	2380;2382	ENSP00000406229:V2380I	ENSP00000260147:V2382I	V	-	1	0	FAT1	187777596	0.992000	0.36948	0.999000	0.59377	0.398000	0.30690	1.481000	0.35476	1.527000	0.49086	0.650000	0.86243	GTT		0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187540602	C	T	187540602	3	4	300	1	0	0	0	0	1	0	0	0	5691	536	19	1	6700	1	FAT1	4	187540602	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08	17609394	187540602	3613674	19	17856											
RGNEF	64283	hgsc.bcm.edu	37	5	73136427	73136427	+	Silent	SNP	T	T	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr5:73136427T>C	ENST00000426542.2	+	10	1289	c.1269T>C	c.(1267-1269)agT>agC	p.S423S	ARHGEF28_ENST00000513042.2_Silent_p.S423S|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000287898.5_Silent_p.S423S|ARHGEF28_ENST00000296799.4_Silent_p.S110S|ARHGEF28_ENST00000296794.6_Silent_p.S423S|ARHGEF28_ENST00000545377.1_Silent_p.S423S|ARHGEF28_ENST00000437974.1_Silent_p.S423S			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	423					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										CAGAAACCAGTCCCAGTGTGT	0.493																																																0													69	68	68					5																	73136427		2002	4162	6164	SO:0001819	synonymous_variant	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1269T>C	chr5.hg19:g.73136427T>C			B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	hg19	CCDS54870.1																																																																																				0.493	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			C	73136427	T	C	73136427	2	2	300	1	0	0	0	0	0	0	0	1	13289	1664	58	3		3	RGNEF	5	73136427	Silent	SNP	T	TCGA-B9-7268-01A-11D-2136-08		73136427	107778833	20	17857											
CDKL3	51265	hgsc.bcm.edu	37	5	133695635	133695635	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr5:133695635A>C	ENST00000265334.4	-	3	431	c.313T>G	c.(313-315)Tac>Gac	p.Y105D	CDKL3_ENST00000435211.1_Missense_Mutation_p.Y105D|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000521118.1_Missense_Mutation_p.Y105D|CDKL3_ENST00000523832.1_Missense_Mutation_p.Y105D|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000435240.2_Intron	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGAAGAGGTATTTTCTAAGT	0.328																																																0													99	90	93					5																	133695635		1826	4085	5911	SO:0001583	missense	51265			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"Cyclin-dependent kinases"	15483	protein-coding gene	gene with protein product	"serine-threonine protein kinase NKIAMRE"	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.313T>G	chr5.hg19:g.133695635A>C	ENSP00000265334:p.Tyr105Asp		D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	hg19	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106870	0.77096	.	.	ENSG00000006837	ENST00000265334;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000039	T	0.82171	0.4979	M	0.81614	2.55	0.45733	D	0.998634	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.84940	0.0865	10	0.87932	D	0	-6.1958	14.5773	0.68258	1.0:0.0:0.0:0.0	.	105;105	E7ET86;Q8IVW4	.;CDKL3_HUMAN	D	105	ENSP00000265334:Y105D;ENSP00000428689:Y105D;ENSP00000430496:Y105D;ENSP00000395559:Y105D	ENSP00000265334:Y105D	Y	-	1	0	CDKL3	133723534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.231000	0.72307	2.141000	0.66446	0.482000	0.46254	TAC		0.328	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		C	133695635	A	C	133695635	3	2	300	1	0	0	0	0	1	0	0	0	3157	449	16	5	1513	5	CDKL3	5	133695635	Missense_Mutation	SNP	A	TCGA-B9-7268-01A-11D-2136-08	60559208	133695635	47219625	21	17858											
DNAH8	1769	hgsc.bcm.edu	37	6	38704982	38704982	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr6:38704982A>T	ENST00000359357.3	+	4	505	c.251A>T	c.(250-252)gAa>gTa	p.E84V	DNAH8_ENST00000441566.1_Missense_Mutation_p.E84V|DNAH8_ENST00000449981.2_Missense_Mutation_p.E301V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	84					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGAATCTGAAAAACATATT	0.313																																																0													74	77	76					6																	38704982		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.251A>T	chr6.hg19:g.38704982A>T	ENSP00000352312:p.Glu84Val		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	A	6.965	0.548009	0.13312	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.23950	1.91;1.9;1.88	5.2	5.2	0.72013	.	0.348200	0.29980	N	0.010705	T	0.08268	0.0206	L	0.41236	1.265	0.32224	N	0.57484	B	0.02656	0.0	B	0.04013	0.001	T	0.17868	-1.0355	10	0.14252	T	0.57	.	11.237	0.48946	0.8476:0.1523:0.0:0.0	.	84	Q96JB1	DYH8_HUMAN	V	289;289;84;84	ENSP00000333363:E289V;ENSP00000352312:E84V;ENSP00000402294:E84V	ENSP00000333363:E289V	E	+	2	0	DNAH8	38812960	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.440000	0.44855	2.073000	0.62155	0.482000	0.46254	GAA		0.313	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38704982	A	T	38704982	3	4	300	1	0	0	0	0	1	0	0	0	4609	246	9	5	257	5	DNAH8	6	38704982	Missense_Mutation	SNP	A	TCGA-B9-7268-01A-11D-2136-08		38704982	132410085	22	17859											
BCLAF1	9774	hgsc.bcm.edu	37	6	136582550	136582550	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr6:136582550delT	ENST00000531224.1	-	12	2862	c.2610delA	c.(2608-2610)caafs	p.Q870fs	BCLAF1_ENST00000031135.9_Frame_Shift_Del_p.Q88fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.Q819fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.Q697fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.Q819fs|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.Q821fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.Q868fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	870					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCTGCCACGTTGAAAAGTAC	0.418																																					Colon(142;1534 1789 5427 7063 28491)											0													218	218	218					6																	136582550		2203	4300	6503	SO:0001589	frameshift_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2610delA	chr6.hg19:g.136582550delT	ENSP00000435210:p.Gln870fs		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	hg19	CCDS5177.1																																																																																				0.418	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		-	136582550	T	-	136582550	7	5	300	1	0	1	0	1	0	0	0	0	1383	1722	60	0	160	0	BCLAF1	6	136582550	Frame_Shift_Del	DEL	T	TCGA-B9-7268-01A-11D-2136-08	97877568	136582550	34532517	23	17860											
DFNA5	1687	hgsc.bcm.edu	37	7	24745817	24745817	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr7:24745817A>T	ENST00000342947.3	-	8	1594	c.1169T>A	c.(1168-1170)gTc>gAc	p.V390D	DFNA5_ENST00000545231.1_Missense_Mutation_p.V226D|DFNA5_ENST00000409970.1_Missense_Mutation_p.V226D|DFNA5_ENST00000419307.1_Missense_Mutation_p.V226D|DFNA5_ENST00000409775.3_Missense_Mutation_p.V390D	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	390					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GAGGGCACTGACCAAGAAGTA	0.537																																					GBM(78;184 1250 20134 20900 23600)											0													75	76	76					7																	24745817		2203	4300	6503	SO:0001583	missense	1687			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1169T>A	chr7.hg19:g.24745817A>T	ENSP00000339587:p.Val390Asp		A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	hg19	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.752032	0.49362	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775;ENST00000430096	T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7	5.0	5.0	0.66597	.	0.415630	0.25613	N	0.029475	T	0.44074	0.1276	M	0.68317	2.08	0.80722	D	1	D	0.60575	0.988	P	0.59357	0.856	T	0.43048	-0.9415	10	0.87932	D	0	-18.5588	12.3301	0.55035	1.0:0.0:0.0:0.0	.	390	O60443	DFNA5_HUMAN	D	390;226;226;226;390;10	ENSP00000339587:V390D;ENSP00000401332:V226D;ENSP00000442661:V226D;ENSP00000387119:V226D;ENSP00000386670:V390D;ENSP00000395540:V10D	ENSP00000339587:V390D	V	-	2	0	DFNA5	24712342	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	5.025000	0.64097	2.091000	0.63221	0.460000	0.39030	GTC		0.537	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		T	24745817	A	T	24745817	3	4	300	1	0	0	0	0	1	0	0	0	4456	275	10	5	333	5	DFNA5	7	24745817	Missense_Mutation	SNP	A	TCGA-B9-7268-01A-11D-2136-08		24745817	134392846	24	17861											
AEBP1	165	hgsc.bcm.edu	37	7	44146299	44146299	+	Silent	SNP	T	T	C	rs539867334		TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr7:44146299T>C	ENST00000223357.3	+	2	713	c.408T>C	c.(406-408)ccT>ccC	p.P136P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	136	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAAGCCACCTAAGGCCACCA	0.627													T|||	1	0.000199681	0.0	0.0	5008	,	,		12431	0.0		0.001	False		,,,				2504	0.0															0													102	108	106					7																	44146299		2199	4296	6495	SO:0001819	synonymous_variant	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.408T>C	chr7.hg19:g.44146299T>C			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	hg19	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	T	9.564	1.119220	0.20877	.	.	ENSG00000106624	ENST00000455443	.	.	.	5.02	-4.0	0.04057	.	.	.	.	.	.	.	.	.	.	.	0.48901	D	0.999723	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.6441	1.8939	0.03253	0.1952:0.3376:0.0967:0.3705	.	.	.	.	Q	94	.	.	X	+	1	0	AEBP1	44112824	0.000000	0.05858	0.758000	0.31321	0.945000	0.59286	-4.524000	0.00221	-0.739000	0.04809	-0.464000	0.05259	TAA		0.627	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		C	44146299	T	C	44146299	2	2	300	1	0	0	0	0	0	0	0	1	349	1509	53	3		3	AEBP1	7	44146299	Silent	SNP	T	TCGA-B9-7268-01A-11D-2136-08	19400482	44146299	114992364	25	17862											
TYW1	55253	hgsc.bcm.edu	37	7	66532281	66532281	+	Silent	SNP	C	C	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr7:66532281C>A	ENST00000359626.5	+	10	1329	c.1165C>A	c.(1165-1167)Cga>Aga	p.R389R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	389					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GTCCATGCTCCGAGGGAGAGG	0.413																																																0													161	141	148					7																	66532281		2203	4300	6503	SO:0001819	synonymous_variant	55253			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1165C>A	chr7.hg19:g.66532281C>A			Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	hg19	CCDS5538.1																																																																																				0.413	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		A	66532281	C	A	66532281	2	1	300	1	0	0	0	0	0	0	0	1	16823	644	23	4		4	TYW1	7	66532281	Silent	SNP	C	TCGA-B9-7268-01A-11D-2136-08	22385982	66532281	92606382	26	17863											
REPIN1	29803	hgsc.bcm.edu	37	7	150068863	150068864	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr7:150068863_150068864insA	ENST00000425389.2	+	1	611_612	c.533_534insA	c.(532-537)atatgcfs	p.C179fs	REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000397281.2_Frame_Shift_Ins_p.C179fs|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Frame_Shift_Ins_p.C236fs|REPIN1_ENST00000540729.1_Frame_Shift_Ins_p.C179fs|REPIN1_ENST00000444957.1_Frame_Shift_Ins_p.C179fs|REPIN1_ENST00000482680.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	179					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGGCCCTTCATATGCGGCAACT	0.658																																																0																																										SO:0001589	frameshift_variant	29803			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.534dupA	chr7.hg19:g.150068864_150068864dupA	ENSP00000388287:p.Cys179fs		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Frame_Shift_Ins	INS	ENST00000425389.2	hg19	CCDS43677.1																																																																																				0.658	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		A	150068864	-	A	150068863	7	5	300	1	0	1	1	0	0	0	0	0	13233	1406	49	0	710	0	REPIN1	7	150068863	Frame_Shift_Ins	INS	-	TCGA-B9-7268-01A-11D-2136-08	83536582	150068863	9069800	27	17864											
SGK223	157285	hgsc.bcm.edu	37	8	8235103	8235103	+	Silent	SNP	A	A	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr8:8235103A>T	ENST00000520004.1	-	3	1080	c.816T>A	c.(814-816)acT>acA	p.T272T	SGK223_ENST00000330777.4_Silent_p.T272T			Q86YV5	SG223_HUMAN		272							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGGAACCTGCAGTCTGGGAGG	0.677																																					GBM(34;731 755 10259 33573 33867)											0													22	27	25					8																	8235103		1995	4154	6149	SO:0001819	synonymous_variant	0																														ENST00000520004.1:c.816T>A	chr8.hg19:g.8235103A>T			Q8N3N5	Silent	SNP	ENST00000520004.1	hg19	CCDS43706.1																																																																																				0.677	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			T	8235103	A	T	8235103	2	4	300	1	0	0	0	0	0	0	0	1	14216	175	7	5		5	SGK223	8	8235103	Silent	SNP	A	TCGA-B9-7268-01A-11D-2136-08		8235103	138128919	28	17865											
CSPP1	79848	hgsc.bcm.edu	37	8	68070755	68070755	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr8:68070755delG	ENST00000262210.5	+	18	2331	c.2300delG	c.(2299-2301)cggfs	p.R767fs	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Frame_Shift_Del_p.R422fs	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	802					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GAAGAAAGACGGCTTGCAGAA	0.388																																																0													68	67	67					8																	68070755		1860	4092	5952	SO:0001589	frameshift_variant	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2300delG	chr8.hg19:g.68070755delG	ENSP00000262210:p.Arg767fs		A6ND63|Q70F00|Q8TBC1	Frame_Shift_Del	DEL	ENST00000262210.5	hg19	CCDS43744.1																																																																																				0.388	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		-	68070755	G	-	68070755	7	5	300	1	0	1	0	1	0	0	0	0	3964	1116	39	0	2483	0	CSPP1	8	68070755	Frame_Shift_Del	DEL	G	TCGA-B9-7268-01A-11D-2136-08	59835652	68070755	78293267	29	17866											
ZBTB10	65986	hgsc.bcm.edu	37	8	81411997	81411997	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr8:81411997T>G	ENST00000430430.1	+	3	2020	c.1241T>G	c.(1240-1242)gTt>gGt	p.V414G	ZBTB10_ENST00000426744.2_Missense_Mutation_p.V414G|ZBTB10_ENST00000455036.3_Missense_Mutation_p.V414G|ZBTB10_ENST00000379091.4_Missense_Mutation_p.V122G	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	414	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ATTGCTGCAGTTCAAGGTTTT	0.408																																																0													124	118	120					8																	81411997		1835	4102	5937	SO:0001583	missense	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1241T>G	chr8.hg19:g.81411997T>G	ENSP00000387462:p.Val414Gly		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	hg19	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997599	0.54147	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.54	5.54	0.83059	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.142348	0.44902	D	0.000418	T	0.79106	0.4390	L	0.58510	1.815	0.80722	D	1	B;D;D;D	0.89917	0.387;1.0;1.0;1.0	P;D;D;D	0.91635	0.512;0.998;0.998;0.999	T	0.79783	-0.1658	10	0.51188	T	0.08	.	15.6913	0.77457	0.0:0.0:0.0:1.0	.	270;414;414;122	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	G	122;414;414;414;242	ENSP00000368384:V122G;ENSP00000387462:V414G;ENSP00000412036:V414G;ENSP00000416134:V414G	ENSP00000368384:V122G	V	+	2	0	ZBTB10	81574552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.113000	0.64589	0.528000	0.53228	GTT		0.408	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		G	81411997	T	G	81411997	3	3	300	1	0	0	0	0	1	0	0	0	17528	1725	60	5	1247	5	ZBTB10	8	81411997	Missense_Mutation	SNP	T	TCGA-B9-7268-01A-11D-2136-08	13341242	81411997	64952025	30	17867											
NIPAL2	79815	hgsc.bcm.edu	37	8	99215364	99215364	+	Silent	SNP	A	A	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr8:99215364A>T	ENST00000341166.3	-	8	1107	c.852T>A	c.(850-852)atT>atA	p.I284I	NIPAL2_ENST00000430223.2_Silent_p.I284I|NIPAL2_ENST00000520545.1_5'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	284						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						TTGTAAAGAAAATATGATTAA	0.408																																																0													185	162	170					8																	99215364		2203	4300	6503	SO:0001819	synonymous_variant	79815			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.852T>A	chr8.hg19:g.99215364A>T			A2RTY8	Silent	SNP	ENST00000341166.3	hg19	CCDS6278.1																																																																																				0.408	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759		T	99215364	A	T	99215364	2	4	300	1	0	0	0	0	0	0	0	1	10427	10	1	5		5	NIPAL2	8	99215364	Silent	SNP	A	TCGA-B9-7268-01A-11D-2136-08	17803367	99215364	47148658	31	17868											
C9orf91	203197	hgsc.bcm.edu	37	9	117400851	117400851	+	Silent	SNP	T	T	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr9:117400851T>C	ENST00000288502.4	+	8	1131	c.694T>C	c.(694-696)Ttg>Ctg	p.L232L	C9orf91_ENST00000374049.4_Silent_p.L233L			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	232						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						ATTGAGCCAGTTGTGTGTTGT	0.562																																																0													149	136	140					9																	117400851		2203	4300	6503	SO:0001819	synonymous_variant	203197			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.694T>C	chr9.hg19:g.117400851T>C			A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Silent	SNP	ENST00000288502.4	hg19	CCDS6808.1																																																																																				0.562	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		C	117400851	T	C	117400851	2	2	300	1	0	0	0	0	0	0	0	1	2507	1722	60	3		3	C9orf91	9	117400851	Silent	SNP	T	TCGA-B9-7268-01A-11D-2136-08		117400851	23812580	32	17869											
LIPA	3988	hgsc.bcm.edu	37	10	90974746	90974746	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr10:90974746delG	ENST00000336233.5	-	10	1361	c.1039delC	c.(1039-1041)cttfs	p.L347fs	LIPA_ENST00000371837.1_Frame_Shift_Del_p.L291fs|LIPA_ENST00000456827.1_Frame_Shift_Del_p.L347fs			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	347					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		ACATCTGCAAGCCAGTCGTGA	0.493																																																0													93	84	87					10																	90974746		2203	4300	6503	SO:0001589	frameshift_variant	3988			M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"Wolman disease"	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.1039delC	chr10.hg19:g.90974746delG	ENSP00000337354:p.Leu347fs		B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Frame_Shift_Del	DEL	ENST00000336233.5	hg19	CCDS7401.1																																																																																				0.493	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235		-	90974746	G	-	90974746	7	5	300	1	0	1	0	1	0	0	0	0	8821	971	34	0	164	0	LIPA	10	90974746	Frame_Shift_Del	DEL	G	TCGA-B9-7268-01A-11D-2136-08		90974746	44560001	33	17870											
CUTC	51076	hgsc.bcm.edu	37	10	101507060	101507060	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr10:101507060A>C	ENST00000370476.5	+	6	615	c.486A>C	c.(484-486)ttA>ttC	p.L162F		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	162					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		AGACCCTCTTAACCTTGGGAT	0.438																																																0													178	165	170					10																	101507060		2203	4300	6503	SO:0001583	missense	51076			AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"cutC copper transporter homolog (E. coli)"			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.486A>C	chr10.hg19:g.101507060A>C	ENSP00000359507:p.Leu162Phe		Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	hg19	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863855	0.51482	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	5.75	1.83	0.25207	Copper homeostasis CutC domain (2);	0.362596	0.26478	N	0.024153	T	0.47097	0.1427	M	0.66439	2.03	0.40178	D	0.977255	P;B	0.35844	0.524;0.358	B;B	0.40940	0.241;0.344	T	0.52003	-0.8633	9	0.87932	D	0	-2.0266	1.2816	0.02042	0.5158:0.1141:0.1618:0.2083	.	162;162	B4DYM2;Q9NTM9	.;CUTC_HUMAN	F	162;99	.	ENSP00000359503:L99F	L	+	3	2	CUTC	101497050	0.287000	0.24315	0.936000	0.37596	0.989000	0.77384	-0.314000	0.08092	0.960000	0.38005	0.460000	0.39030	TTA		0.438	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		C	101507060	A	C	101507060	3	2	300	1	0	0	0	0	1	0	0	0	4065	359	13	5	508	5	CUTC	10	101507060	Missense_Mutation	SNP	A	TCGA-B9-7268-01A-11D-2136-08	10532314	101507060	34027687	34	17871											
C10orf119	79892	hgsc.bcm.edu	37	10	121598084	121598084	+	Silent	SNP	A	A	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr10:121598084A>G	ENST00000360003.3	-	12	1546	c.1377T>C	c.(1375-1377)gaT>gaC	p.D459D	MCMBP_ENST00000369077.3_Silent_p.D457D|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	459					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GGAGAGTCTCATCGATTACAA	0.483																																																0													75	73	74					10																	121598084		2203	4300	6503	SO:0001819	synonymous_variant	79892			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1377T>C	chr10.hg19:g.121598084A>G			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	hg19	CCDS7617.1																																																																																				0.483	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		G	121598084	A	G	121598084	2	3	300	1	0	0	0	0	0	0	0	1	1590	214	8	3		3	C10orf119	10	121598084	Silent	SNP	A	TCGA-B9-7268-01A-11D-2136-08	20091024	121598084	13936663	35	17872											
ENDOD1	23052	hgsc.bcm.edu	37	11	94862157	94862157	+	Missense_Mutation	SNP	C	C	G	rs61734147	byFrequency	TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr11:94862157C>G	ENST00000278505.4	+	2	1035	c.917C>G	c.(916-918)tCt>tGt	p.S306C		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	306						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S306C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				AGTCCCCTTTCTAGCACCAGG	0.448																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											85	82	83					11																	94862157		1855	4087	5942	SO:0001583	missense	23052			BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.917C>G	chr11.hg19:g.94862157C>G	ENSP00000278505:p.Ser306Cys		A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	hg19	CCDS41699.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450542	0.43531	.	.	ENSG00000149218	ENST00000278505	T	0.35973	1.28	5.79	5.79	0.91817	.	0.494397	0.18919	N	0.127530	T	0.44767	0.1309	M	0.62723	1.935	0.28948	N	0.890571	P	0.45283	0.855	B	0.44163	0.443	T	0.50171	-0.8859	10	0.87932	D	0	-0.6278	17.5334	0.87820	0.0:1.0:0.0:0.0	.	306	O94919	ENDD1_HUMAN	C	306	ENSP00000278505:S306C	ENSP00000278505:S306C	S	+	2	0	ENDOD1	94501805	0.020000	0.18652	0.551000	0.28230	0.151000	0.21798	2.730000	0.47335	2.742000	0.94016	0.455000	0.32223	TCT		0.448	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		G	94862157	C	G	94862157	3	3	300	1	0	0	0	0	1	0	0	0	5116	913	32	4	923	4	ENDOD1	11	94862157	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08		94862157	40144359	36	17873											
UBE4A	9354	hgsc.bcm.edu	37	11	118243839	118243839	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr11:118243839G>A	ENST00000431736.2	+	7	853	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	UBE4A_ENST00000252108.3_Missense_Mutation_p.E254K					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGAGGTCATTGAAGCCTTGAT	0.368																																																0													117	113	115					11																	118243839		2200	4296	6496	SO:0001583	missense	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.781G>A	chr11.hg19:g.118243839G>A	ENSP00000387362:p.Glu261Lys			Missense_Mutation	SNP	ENST00000431736.2	hg19	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	g	14.87	2.663910	0.47572	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	T;T	0.46063	0.88;0.88	6.04	1.95	0.26073	.	0.407974	0.28815	N	0.014059	T	0.23766	0.0575	N	0.24115	0.695	0.80722	D	1	B;B	0.19200	0.02;0.034	B;B	0.21708	0.016;0.036	T	0.05903	-1.0857	10	0.08837	T	0.75	-0.6425	8.9731	0.35919	0.1267:0.245:0.6283:0.0	.	254;261	Q14139;Q14139-2	UBE4A_HUMAN;.	K	254;261	ENSP00000252108:E254K;ENSP00000387362:E261K	ENSP00000252108:E254K	E	+	1	0	UBE4A	117749049	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.805000	0.55575	0.437000	0.26423	-0.213000	0.12676	GAA		0.368	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		A	118243839	G	A	118243839	3	1	300	1	0	0	0	0	1	0	0	0	16887	1291	45	2	803	2	UBE4A	11	118243839	Missense_Mutation	SNP	G	TCGA-B9-7268-01A-11D-2136-08	23381682	118243839	16762677	37	17874											
MCAM	4162	hgsc.bcm.edu	37	11	119183001	119183001	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr11:119183001A>C	ENST00000264036.4	-	8	1013	c.999T>G	c.(997-999)agT>agG	p.S333R	MCAM_ENST00000530144.2_5'Flank|MCAM_ENST00000392814.1_Missense_Mutation_p.S282R	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	333					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTGTGGTTCACTCAGCAGCG	0.622																																																0													96	92	94					11																	119183001		2199	4295	6494	SO:0001583	missense	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.999T>G	chr11.hg19:g.119183001A>C	ENSP00000264036:p.Ser333Arg		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	hg19	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.399560	0.25291	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.06849	3.25;3.25	5.53	-3.57	0.04612	Immunoglobulin-like fold (1);	.	.	.	.	T	0.03739	0.0106	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.15484	0.013	T	0.45614	-0.9249	9	0.18276	T	0.48	-16.5141	2.4635	0.04547	0.3729:0.2069:0.3187:0.1015	.	333	P43121	MUC18_HUMAN	R	333;282	ENSP00000264036:S333R;ENSP00000376561:S282R	ENSP00000264036:S333R	S	-	3	2	MCAM	118688211	0.000000	0.05858	0.024000	0.17045	0.080000	0.17528	-0.422000	0.07043	-0.700000	0.05070	-0.411000	0.06167	AGT		0.622	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			C	119183001	A	C	119183001	3	2	300	1	0	0	0	0	1	0	0	0	9370	156	6	5	977	5	MCAM	11	119183001	Missense_Mutation	SNP	A	TCGA-B9-7268-01A-11D-2136-08	939162	119183001	15823515	38	17875											
APOLD1	81575	hgsc.bcm.edu	37	12	12940182	12940182	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:12940182C>T	ENST00000326765.6	+	2	506	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	APOLD1_ENST00000356591.4_Missense_Mutation_p.R115W	NM_001130415.1	NP_001123887.1	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	146					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|endothelial cell activation (GO:0042118)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|regulation of endothelial cell differentiation (GO:0045601)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		CTGCAACTCCCGGGAGCTGCG	0.682																																																0													27	31	30					12																	12940182		2203	4300	6503	SO:0001583	missense	81575			AL136783	CCDS8654.1, CCDS44833.1	12p13.2	2006-02-03	2006-01-23		ENSG00000178878	ENSG00000178878			25268	protein-coding gene	gene with protein product		612456				11230166	Standard	NM_030817		Approved	FLJ25138, DKFZP434F0318	uc001rau.4	Q96LR9	OTTHUMG00000153561	ENST00000326765.6:c.436C>T	chr12.hg19:g.12940182C>T	ENSP00000324277:p.Arg146Trp		Q8IVR2|Q9H0I5	Missense_Mutation	SNP	ENST00000326765.6	hg19	CCDS44833.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040822	0.75732	.	.	ENSG00000178878	ENST00000326765;ENST00000356591	T;T	0.03386	3.95;3.95	4.91	4.01	0.46588	.	0.395551	0.24623	U	0.036942	T	0.09730	0.0239	L	0.43152	1.355	0.31300	N	0.688457	D;D	0.76494	0.999;0.999	D;D	0.65987	0.94;0.94	T	0.02758	-1.1114	10	0.44086	T	0.13	-18.6983	9.3604	0.38192	0.2848:0.5756:0.1396:0.0	.	115;146	A0AVN6;Q96LR9	.;APLD1_HUMAN	W	146;115	ENSP00000324277:R146W;ENSP00000348998:R115W	ENSP00000324277:R146W	R	+	1	2	APOLD1	12831449	0.938000	0.31826	1.000000	0.80357	0.994000	0.84299	0.853000	0.27777	1.179000	0.42884	0.478000	0.44815	CGG		0.682	APOLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331627.1	NM_030817		T	12940182	C	T	12940182	3	4	300	1	0	0	0	0	1	0	0	0	811	643	23	1	449	1	APOLD1	12	12940182	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08		12940182	120911713	39	17876											
ANP32D	23519	hgsc.bcm.edu	37	12	48866497	48866497	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:48866497C>A	ENST00000266594.1	+	1	50	c.50C>A	c.(49-51)tCc>tAc	p.S17Y		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	17						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AGGACGCCCTCCGATGTGAAA	0.448																																																0													115	117	117					12																	48866497		2203	4300	6503	SO:0001583	missense	23519			U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"ANP32 acidic nuclear phosphoproteins"	16676	protein-coding gene	gene with protein product	"pp32 related 2"	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.50C>A	chr12.hg19:g.48866497C>A	ENSP00000266594:p.Ser17Tyr		Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	hg19	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.624087	0.46840	.	.	ENSG00000139223	ENST00000266594	T	0.00468	7.22	1.48	0.203	0.15195	.	0.288521	0.34986	N	0.003527	T	0.00552	0.0018	M	0.86343	2.81	0.38870	D	0.95666	P	0.47106	0.89	B	0.41088	0.347	T	0.68458	-0.5403	10	0.72032	D	0.01	.	4.9765	0.14144	0.0:0.6111:0.3889:0.0	.	17	O95626	AN32D_HUMAN	Y	17	ENSP00000266594:S17Y	ENSP00000266594:S17Y	S	+	2	0	ANP32D	47152764	0.897000	0.30589	0.027000	0.17364	0.572000	0.35998	-0.183000	0.09712	0.856000	0.35383	0.289000	0.19496	TCC		0.448	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		A	48866497	C	A	48866497	3	1	300	1	0	0	0	0	1	0	0	0	708	855	30	4	52	4	ANP32D	12	48866497	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08	35926315	48866497	84985398	40	17877											
KRT4	3851	hgsc.bcm.edu	37	12	53205646	53205646	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:53205646C>G	ENST00000551956.1	-	2	1070	c.578G>C	c.(577-579)aGt>aCt	p.S193T	KRT4_ENST00000293774.4_Missense_Mutation_p.S267T|KRT4_ENST00000458244.2_Missense_Mutation_p.S173T			P19013	K2C4_HUMAN	keratin 4	207	Linker 1.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCTCAGGACACTGAGGTAGGT	0.537																																					Pancreas(190;284 2995 41444 45903)											0													114	119	117					12																	53205646		2030	4201	6231	SO:0001583	missense	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.578G>C	chr12.hg19:g.53205646C>G	ENSP00000448220:p.Ser193Thr		F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	hg19	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	4.151	0.026479	0.08054	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.76316	-1.01;-1.01;-1.01	4.54	-1.88	0.07713	Filament (1);	0.363501	0.23947	N	0.042986	T	0.65291	0.2677	L	0.61218	1.895	0.19945	N	0.999941	B	0.21452	0.056	B	0.25614	0.062	T	0.51818	-0.8657	10	0.34782	T	0.22	.	0.9077	0.01288	0.2253:0.3089:0.1121:0.3537	.	207	P19013	K2C4_HUMAN	T	193;267;173	ENSP00000448220:S193T;ENSP00000293774:S267T;ENSP00000387904:S173T	ENSP00000293774:S267T	S	-	2	0	KRT4	51491913	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-1.038000	0.03553	-0.350000	0.08262	-0.137000	0.14449	AGT		0.537	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		G	53205646	C	G	53205646	3	3	300	1	0	0	0	0	1	0	0	0	8479	565	20	4	1016	4	KRT4	12	53205646	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08	4339149	53205646	80646249	41	17878											
LRRIQ1	84125	hgsc.bcm.edu	37	12	85449852	85449852	+	Silent	SNP	G	G	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:85449852G>T	ENST00000393217.2	+	8	1342	c.1281G>T	c.(1279-1281)gtG>gtT	p.V427V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	427										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAATCTAGTGGATGAAAATT	0.294																																																0													83	95	91					12																	85449852		2200	4297	6497	SO:0001819	synonymous_variant	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1281G>T	chr12.hg19:g.85449852G>T			Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	hg19	CCDS41816.1																																																																																				0.294	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		T	85449852	G	T	85449852	2	4	300	1	0	0	0	0	0	0	0	1	9031	1335	47	4		4	LRRIQ1	12	85449852	Silent	SNP	G	TCGA-B9-7268-01A-11D-2136-08	32244206	85449852	48402043	42	17879											
SYCP3	50511	hgsc.bcm.edu	37	12	102125409	102125409	+	Silent	SNP	T	T	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:102125409T>C	ENST00000392927.3	-	7	620	c.489A>G	c.(487-489)caA>caG	p.Q163Q	SYCP3_ENST00000392924.1_Silent_p.Q163Q|SYCP3_ENST00000266743.2_Silent_p.Q163Q	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	163	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CAATTCTAGATTGTTGAAGAA	0.264																																																0													61	59	60					12																	102125409		2202	4281	6483	SO:0001819	synonymous_variant	50511			AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.489A>G	chr12.hg19:g.102125409T>C				Silent	SNP	ENST00000392927.3	hg19	CCDS9087.1																																																																																				0.264	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		C	102125409	T	C	102125409	2	2	300	1	0	0	0	0	0	0	0	1	15439	1490	52	3		3	SYCP3	12	102125409	Silent	SNP	T	TCGA-B9-7268-01A-11D-2136-08	16675557	102125409	31726486	43	17880											
GATC	51499	hgsc.bcm.edu	37	12	120884511	120884511	+	5'Flank	SNP	C	C	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr12:120884511C>T	ENST00000546954.1	-	0	0				GATC_ENST00000551765.1_Missense_Mutation_p.L45F|TRIAP1_ENST00000302432.3_5'Flank|AL021546.6_ENST00000551806.1_Missense_Mutation_p.A76V	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGTCTAGCGCTTGTGGACTT	0.682																																																0													29	33	32					12																	120884511		2202	4295	6497	SO:0001631	upstream_gene_variant	283459				CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"p53-inducible cell-survival factor", "mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		chr12.hg19:g.120884511C>T	Exception_encountered		B2R4Z7|Q5RKS5|Q6LCA7	Missense_Mutation	SNP	ENST00000546954.1	hg19	CCDS9198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.450683|4.450683	0.84101|0.84101	.|.	.|.	ENSG00000111780|ENSG00000257218	ENST00000551806|ENST00000551765	.|T	.|0.55413	.|0.52	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.46483|0.46483	0.1395|0.1395	L|L	0.55213|0.55213	1.73|1.73	0.58432|0.58432	D|D	0.999996|0.999996	.|P	.|0.35456	.|0.502	.|B	.|0.31337	.|0.128	T|T	0.53272|0.53272	-0.8462|-0.8462	6|10	0.72032|0.87932	D|D	0.01|0	-15.3352|-15.3352	12.1028|12.1028	0.53794|0.53794	0.0:0.9221:0.0:0.0779|0.0:0.9221:0.0:0.0779	.|.	.|45	.|O43716	.|GATC_HUMAN	V|F	76|45	.|ENSP00000446872:L45F	ENSP00000450281:A76V|ENSP00000448397:L45F	A|L	+|+	2|1	0|0	GATC|AL021546.1	119368894|119368894	0.992000|0.992000	0.36948|0.36948	0.685000|0.685000	0.30070|0.30070	0.991000|0.991000	0.79684|0.79684	2.195000|2.195000	0.42677|0.42677	2.646000|2.646000	0.89796|0.89796	0.644000|0.644000	0.83932|0.83932	GCT|CTT		0.682	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108980.3	NM_016399		T	120884511	C	T	120884511	1	4	300	0	1	0	0	0	0	0	0	0	6264	797	28	2		2	GATC	12	120884511	5'Flank	SNP	C	TCGA-B9-7268-01A-11D-2136-08	18759102	120884511	12967384	44	17881											
PSME2	5721	hgsc.bcm.edu	37	14	24615760	24615760	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr14:24615760C>A	ENST00000216802.5	-	1	670	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	RNF31_ENST00000559275.1_5'Flank|PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.G11W|RNF31_ENST00000382687.3_5'Flank|RNF31_ENST00000324103.6_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	11					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CGGGCTTCCCCGCTCAGGCGC	0.632																																																0													67	66	66					14																	24615760		2203	4300	6503	SO:0001583	missense	5721				CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"Proteasome (prosome, macropain) subunits"	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.31G>T	chr14.hg19:g.24615760C>A	ENSP00000216802:p.Gly11Trp		Q15129	Missense_Mutation	SNP	ENST00000216802.5	hg19	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473208	0.43942	.	.	ENSG00000100911	ENST00000216802	T	0.43294	0.95	5.22	4.32	0.51571	Proteasome activator pa28, REG alpha subunit (2);	0.926255	0.09349	N	0.814471	T	0.42404	0.1201	N	0.08118	0	0.30656	N	0.754954	D	0.58620	0.983	P	0.60609	0.877	T	0.47586	-0.9106	10	0.72032	D	0.01	0.1857	11.5808	0.50889	0.0:0.8208:0.1792:0.0	.	11	Q9UL46	PSME2_HUMAN	W	11	ENSP00000216802:G11W	ENSP00000216802:G11W	G	-	1	0	PSME2	23685600	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.201000	0.42734	1.391000	0.46566	0.561000	0.74099	GGG		0.632	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818		A	24615760	C	A	24615760	3	1	300	1	0	0	0	0	1	0	0	0	12712	652	23	4	732	4	PSME2	14	24615760	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08		24615760	82733780	45	17882											
MNAT1	4331	hgsc.bcm.edu	37	14	61434959	61434959	+	Silent	SNP	T	T	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr14:61434959T>C	ENST00000261245.4	+	8	923	c.822T>C	c.(820-822)caT>caC	p.H274H	MNAT1_ENST00000539616.2_Silent_p.H232H|RP11-193F5.1_ENST00000553946.1_RNA	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	274					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		ATTTAAACCATGTCAGAGCTG	0.388								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																								0													128	116	120					14																	61434959		2203	4300	6503	SO:0001819	synonymous_variant	4331			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"RING-type (C3HC4) zinc fingers", "General transcription factor IIH complex subunits"	7181	protein-coding gene	gene with protein product	"CDK-activating kinase assembly factor"	602659	"menage a trois 1 (CAK assembly factor)", "menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.822T>C	chr14.hg19:g.61434959T>C			G3V1U8|Q15817|Q6ICQ7	Silent	SNP	ENST00000261245.4	hg19	CCDS9750.1																																																																																				0.388	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431		C	61434959	T	C	61434959	2	2	300	1	0	0	0	0	0	0	0	1	9676	1461	51	3		3	MNAT1	14	61434959	Silent	SNP	T	TCGA-B9-7268-01A-11D-2136-08	36819199	61434959	45914581	46	17883											
MARK3	4140	hgsc.bcm.edu	37	14	103894758	103894758	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr14:103894758A>G	ENST00000429436.2	+	3	788	c.278A>G	c.(277-279)aAt>aGt	p.N93S	MARK3_ENST00000553942.1_Missense_Mutation_p.N93S|MARK3_ENST00000303622.9_Missense_Mutation_p.N93S|MARK3_ENST00000335102.5_Missense_Mutation_p.N93S|MARK3_ENST00000216288.7_Missense_Mutation_p.N93S|MARK3_ENST00000440884.3_Missense_Mutation_p.N93S|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.N93S	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ACTCAGTTGAATCCAACAAGT	0.284																																																0													21	19	20					14																	103894758		1762	4021	5783	SO:0001583	missense	4140			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.278A>G	chr14.hg19:g.103894758A>G	ENSP00000411397:p.Asn93Ser		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	hg19	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	A	8.139	0.784865	0.16189	.	.	ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T;T	0.64618	-0.11;3.26;-0.11;-0.11;-0.11;-0.11;-0.11	5.27	4.12	0.48240	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.093621	0.64402	D	0.000001	T	0.40694	0.1127	N	0.10685	0.025	0.54753	D	0.99998	B;P;B;B;B;B	0.36183	0.164;0.542;0.026;0.04;0.366;0.021	B;B;B;B;B;B	0.34180	0.127;0.177;0.038;0.043;0.136;0.009	T	0.40683	-0.9550	10	0.54805	T	0.06	.	11.4976	0.50417	0.8493:0.1507:0.0:0.0	.	93;93;93;93;93;93	P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.;.;MARK3_HUMAN;.;.;.	S	93	ENSP00000335347:N93S;ENSP00000402104:N93S;ENSP00000408092:N93S;ENSP00000411397:N93S;ENSP00000303698:N93S;ENSP00000216288:N93S;ENSP00000450772:N93S	ENSP00000216288:N93S	N	+	2	0	MARK3	102964511	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	6.709000	0.74665	0.836000	0.34901	-0.313000	0.08912	AAT		0.284	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		G	103894758	A	G	103894758	3	3	300	1	0	0	0	0	1	0	0	0	9316	101	4	3	288	3	MARK3	14	103894758	Missense_Mutation	SNP	A	TCGA-B9-7268-01A-11D-2136-08	42459799	103894758	3454782	47	17884											
SLTM	79811	hgsc.bcm.edu	37	15	59172211	59172211	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr15:59172211G>T	ENST00000380516.2	-	21	3179	c.3092C>A	c.(3091-3093)cCg>cAg	p.P1031Q	SLTM_ENST00000536328.1_Missense_Mutation_p.P600Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	1031					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAATCGTCGCGGAGGTCCACC	0.408																																																0													65	68	67					15																	59172211		2192	4292	6484	SO:0001583	missense	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.3092C>A	chr15.hg19:g.59172211G>T	ENSP00000369887:p.Pro1031Gln		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	hg19	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858179	0.32791	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.13901	2.55	5.66	5.66	0.87406	.	0.000000	0.53938	D	0.000057	T	0.11495	0.0280	L	0.34521	1.04	0.45342	D	0.998331	P;P	0.41624	0.644;0.757	B;B	0.36378	0.159;0.223	T	0.05354	-1.0890	10	0.39692	T	0.17	.	14.5794	0.68274	0.0:0.0:0.854:0.146	.	1031;600	Q9NWH9;A8K5V8	SLTM_HUMAN;.	Q	1031;597;600	ENSP00000369887:P1031Q	ENSP00000369887:P1031Q	P	-	2	0	SLTM	56959503	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.125000	0.71627	2.665000	0.90641	0.563000	0.77884	CCG		0.408	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		T	59172211	G	T	59172211	3	4	300	1	0	0	0	0	1	0	0	0	14760	1116	39	4	16	4	SLTM	15	59172211	Missense_Mutation	SNP	G	TCGA-B9-7268-01A-11D-2136-08		59172211	43359181	48	17885											
TERF2	7014	hgsc.bcm.edu	37	16	69402345	69402345	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr16:69402345C>G	ENST00000254942.3	-	6	897	c.881G>C	c.(880-882)aGt>aCt	p.S294T	TERF2_ENST00000603068.1_Missense_Mutation_p.S252T|TERF2_ENST00000569611.2_5'Flank	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	294					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CTTCCCTGTACTTGAGGCAGC	0.478																																					Ovarian(13;63 524 30420 31710 34037)											0													133	121	125					16																	69402345		2198	4300	6498	SO:0001583	missense	7014				CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.881G>C	chr16.hg19:g.69402345C>G	ENSP00000254942:p.Ser294Thr			Missense_Mutation	SNP	ENST00000254942.3	hg19		.	.	.	.	.	.	.	.	.	.	C	4.457	0.084724	0.08583	.	.	ENSG00000132604	ENST00000254942	.	.	.	4.95	0.394	0.16299	.	0.964177	0.08668	N	0.911414	T	0.36826	0.0981	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.31024	-0.9958	9	0.15066	T	0.55	0.7302	9.5105	0.39074	0.0:0.5756:0.3285:0.0959	.	252	Q15554	TERF2_HUMAN	T	252	.	ENSP00000254942:S252T	S	-	2	0	TERF2	67959846	.	.	0.002000	0.10522	0.255000	0.26057	.	.	0.218000	0.20820	0.555000	0.69702	AGT		0.478	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			G	69402345	C	G	69402345	3	3	300	1	0	0	0	0	1	0	0	0	15767	565	20	4	767	4	TERF2	16	69402345	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08		69402345	20952408	49	17886											
GINS2	51659	hgsc.bcm.edu	37	16	85715212	85715212	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr16:85715212T>C	ENST00000253462.3	-	3	381	c.281A>G	c.(280-282)gAa>gGa	p.E94G		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	94					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						CTTCGTAAGTTCCATGTAGTA	0.448																																																0													183	164	170					16																	85715212		2198	4300	6498	SO:0001583	missense	51659			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.281A>G	chr16.hg19:g.85715212T>C	ENSP00000253462:p.Glu94Gly		D3DUM5|Q6IAG9	Missense_Mutation	SNP	ENST00000253462.3	hg19	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643560	0.87859	.	.	ENSG00000131153	ENST00000253462	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84916	0.0851	9	0.72032	D	0.01	-30.9692	14.3362	0.66592	0.0:0.0:0.0:1.0	.	94;94	Q53G08;Q9Y248	.;PSF2_HUMAN	G	94	.	ENSP00000253462:E94G	E	-	2	0	GINS2	84272713	1.000000	0.71417	0.970000	0.41538	0.939000	0.58152	7.531000	0.81973	1.874000	0.54306	0.459000	0.35465	GAA		0.448	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		C	85715212	T	C	85715212	3	2	300	1	0	0	0	0	1	0	0	0	6390	1783	62	3	288	3	GINS2	16	85715212	Missense_Mutation	SNP	T	TCGA-B9-7268-01A-11D-2136-08	16312867	85715212	4639541	50	17887											
COX10	1352	hgsc.bcm.edu	37	17	14005508	14005508	+	Silent	SNP	T	T	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr17:14005508T>A	ENST00000261643.3	+	4	650	c.573T>A	c.(571-573)ctT>ctA	p.L191L	COX10_ENST00000536205.1_Intron|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	191					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GTTTCCTGCTTACTTCTGTTG	0.473																																																0													174	152	160					17																	14005508		2203	4300	6503	SO:0001819	synonymous_variant	1352			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.573T>A	chr17.hg19:g.14005508T>A			B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	ENST00000261643.3	hg19	CCDS11166.1																																																																																				0.473	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		A	14005508	T	A	14005508	2	1	300	1	0	0	0	0	0	0	0	1	3764	1741	61	5		5	COX10	17	14005508	Silent	SNP	T	TCGA-B9-7268-01A-11D-2136-08		14005508	67189702	51	17888											
FAM187B	148109	hgsc.bcm.edu	37	19	35718874	35718874	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:35718874C>T	ENST00000324675.3	-	1	758	c.710G>A	c.(709-711)gGa>gAa	p.G237E		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	237						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GTACATGGATCCTAAGGGACA	0.507																																																0													67	57	60					19																	35718874		2203	4300	6503	SO:0001583	missense	148109			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.710G>A	chr19.hg19:g.35718874C>T	ENSP00000323355:p.Gly237Glu		Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	hg19	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687642	0.29962	.	.	ENSG00000177558	ENST00000324675	T	0.39592	1.07	4.91	1.25	0.21368	.	0.519698	0.15947	N	0.236896	T	0.50274	0.1606	L	0.57536	1.79	0.09310	N	1	D	0.57899	0.981	P	0.53401	0.725	T	0.49041	-0.8980	10	0.72032	D	0.01	-2.2526	13.4884	0.61379	0.0:0.4094:0.5906:0.0	.	237	Q17R55	F187B_HUMAN	E	237	ENSP00000323355:G237E	ENSP00000323355:G237E	G	-	2	0	FAM187B	40410714	0.319000	0.24607	0.289000	0.24876	0.145000	0.21501	0.869000	0.27996	0.564000	0.29238	-0.175000	0.13238	GGA		0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		T	35718874	C	T	35718874	3	4	300	1	0	0	0	0	1	0	0	0	5515	855	30	2	407	2	FAM187B	19	35718874	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08		35718874	23410109	52	17889											
ATP1A3	478	hgsc.bcm.edu	37	19	42492245	42492245	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:42492245G>A	ENST00000302102.5	-	4	350	c.200C>T	c.(199-201)cCt>cTt	p.P67L	ATP1A3_ENST00000602133.1_Missense_Mutation_p.P37L|ATP1A3_ENST00000543770.1_Missense_Mutation_p.P78L|ATP1A3_ENST00000545399.1_Missense_Mutation_p.P80L|ATP1A3_ENST00000468774.2_5'UTR	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	67					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAGTGCGTTAGGCCCATCCCG	0.637																																																0													103	107	106					19																	42492245		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.200C>T	chr19.hg19:g.42492245G>A	ENSP00000302397:p.Pro67Leu		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	hg19	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095660	0.56075	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	4.09	4.09	0.47781	ATPase, P-type cation-transporter, N-terminal (2);	0.185108	0.46758	D	0.000274	D	0.89065	0.6609	M	0.80616	2.505	0.80722	D	1	B;D;D;D	0.76494	0.383;0.998;0.999;0.997	B;D;D;D	0.75484	0.126;0.965;0.986;0.979	D	0.90107	0.4189	10	0.54805	T	0.06	.	14.1703	0.65506	0.0:0.0:1.0:0.0	.	80;78;67;67	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	L	67;67;80;37;78;80	ENSP00000302397:P67L;ENSP00000411503:P67L;ENSP00000444688:P80L;ENSP00000437577:P78L	ENSP00000302397:P67L	P	-	2	0	ATP1A3	47184085	1.000000	0.71417	0.945000	0.38365	0.021000	0.10359	9.808000	0.99193	2.010000	0.58986	0.491000	0.48974	CCT		0.637	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		A	42492245	G	A	42492245	3	1	300	1	0	0	0	0	1	0	0	0	1130	1000	35	2	2921	2	ATP1A3	19	42492245	Missense_Mutation	SNP	G	TCGA-B9-7268-01A-11D-2136-08	6773371	42492245	16636738	53	17890											
ZNF836	162962	hgsc.bcm.edu	37	19	52660096	52660096	+	Silent	SNP	G	G	A			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:52660096G>A	ENST00000322146.8	-	5	1361	c.840C>T	c.(838-840)ggC>ggT	p.G280G	ZNF836_ENST00000597252.1_Silent_p.G280G|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGAAGATCTTGCCACATACAC	0.413																																																0													85	90	88					19																	52660096		2176	4286	6462	SO:0001819	synonymous_variant	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.840C>T	chr19.hg19:g.52660096G>A				Silent	SNP	ENST00000322146.8	hg19	CCDS46162.1																																																																																				0.413	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		A	52660096	G	A	52660096	2	1	300	1	0	0	0	0	0	0	0	1	18192	1306	46	2		2	ZNF836	19	52660096	Silent	SNP	G	TCGA-B9-7268-01A-11D-2136-08	10167851	52660096	6468887	54	17891											
ZNF264	9422	hgsc.bcm.edu	37	19	57724137	57724137	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chr19:57724137C>G	ENST00000263095.6	+	4	2086	c.1672C>G	c.(1672-1674)Caa>Gaa	p.Q558E	ZNF264_ENST00000536056.1_Missense_Mutation_p.Q558E	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CACTCAGCATCAAAGGATGCA	0.453																																																0													100	97	98					19																	57724137		2203	4300	6503	SO:0001583	missense	9422			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1672C>G	chr19.hg19:g.57724137C>G	ENSP00000263095:p.Gln558Glu		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	hg19	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241123	0.22711	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.07327	3.2;3.2	2.35	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06234	0.0161	L	0.28014	0.82	0.21553	N	0.999646	B	0.27853	0.191	B	0.18263	0.021	T	0.27226	-1.0080	9	0.59425	D	0.04	.	8.9199	0.35605	0.0:0.7681:0.2319:0.0	.	558	O43296	ZN264_HUMAN	E	558	ENSP00000263095:Q558E;ENSP00000440376:Q558E	ENSP00000263095:Q558E	Q	+	1	0	ZNF264	62415949	0.000000	0.05858	0.624000	0.29186	0.955000	0.61496	0.743000	0.26231	1.644000	0.50603	0.491000	0.48974	CAA		0.453	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			G	57724137	C	G	57724137	3	3	300	1	0	0	0	0	1	0	0	0	17809	827	29	4	1686	4	ZNF264	19	57724137	Missense_Mutation	SNP	C	TCGA-B9-7268-01A-11D-2136-08	5064041	57724137	1404846	55	17892											
PHKA1	5255	hgsc.bcm.edu	37	X	71822085	71822085	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-7268-01A-11D-2136-08	TCGA-B9-7268-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	23d1496c-de52-4d78-ba63-f8f751d546d5	d08b6d62-3120-49a5-9cd5-c671278e2eb8	g.chrX:71822085T>C	ENST00000373542.4	-	27	3115	c.2956A>G	c.(2956-2958)Atc>Gtc	p.I986V	PHKA1_ENST00000541944.1_Missense_Mutation_p.I927V|PHKA1_ENST00000373539.3_Missense_Mutation_p.I986V|PHKA1_ENST00000373545.3_Missense_Mutation_p.I927V|PHKA1_ENST00000339490.3_Missense_Mutation_p.I986V	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	986					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATCTCGTGGATAGAAATAGCA	0.403																																																0													120	96	104					X																	71822085		2203	4300	6503	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2956A>G	chrX.hg19:g.71822085T>C	ENSP00000362643:p.Ile986Val		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	hg19	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.931761	0.52866	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91295	-2.77;-2.79;-2.82;-2.78;-2.76	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	M	0.73372	2.23	0.52099	D	0.999948	B;B;B	0.19200	0.025;0.016;0.034	B;B;B	0.27608	0.038;0.073;0.081	D	0.86249	0.1648	10	0.34782	T	0.22	-12.1844	12.9234	0.58245	0.0:0.0:0.0:1.0	.	927;986;986	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	V	927;986;927;986;986	ENSP00000362646:I927V;ENSP00000362643:I986V;ENSP00000441251:I927V;ENSP00000342469:I986V;ENSP00000362640:I986V	ENSP00000342469:I986V	I	-	1	0	PHKA1	71738810	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.818000	0.69236	1.960000	0.56953	0.417000	0.27973	ATC		0.403	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			C	71822085	T	C	71822085	3	2	300	1	0	0	0	0	1	0	0	0	11845	1406	49	3	739	3	PHKA1	23	71822085	Missense_Mutation	SNP	T	TCGA-B9-7268-01A-11D-2136-08		71822085	83448475	56	17893											
FAM132A	388581	hgsc.bcm.edu	37	1	1179848	1179848	+	Silent	SNP	G	G	C	rs200735866		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:1179848G>C	ENST00000330388.2	-	2	238	c.207C>G	c.(205-207)tcC>tcG	p.S69S		NM_001014980.2	NP_001014980.1	Q5T7M4	ADIPL_HUMAN	family with sequence similarity 132, member A	69					negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of glucose import (GO:0046324)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTGGGCGTCGGAGAACTCAG	0.682																																																0													44	49	47					1																	1179848		2190	4289	6479	SO:0001819	synonymous_variant	388581			BC089443	CCDS30554.1	1p36.33	2012-03-26	2007-03-27	2007-03-27	ENSG00000184163	ENSG00000184163			32308	protein-coding gene	gene with protein product	"adipolin", "adipose-derived insulin-sensitizing factor"		"C1q domain containing 2"	C1QDC2		21849507	Standard	NM_001014980		Approved	MGC105127, C1QTNF12, CTRP12	uc001adl.2	Q5T7M4	OTTHUMG00000001412	ENST00000330388.2:c.207C>G	chr1.hg19:g.1179848G>C			Q5EBL5	Silent	SNP	ENST00000330388.2	hg19	CCDS30554.1																																																																																				0.682	FAM132A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004080.4	XM_371208		C	1179848	G	C	1179848	2	2	301	1	0	0	0	0	0	0	0	1	5444	1103	39	4		4	FAM132A	1	1179848	Silent	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10		1179848	248070773	1	17894											
KCNAB2	8514	hgsc.bcm.edu	37	1	6142274	6142274	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:6142274C>A	ENST00000164247.1	+	6	785	c.221C>A	c.(220-222)aCc>aAc	p.T74N	KCNAB2_ENST00000378087.3_Missense_Mutation_p.T74N|KCNAB2_ENST00000378092.1_Missense_Mutation_p.T60N|KCNAB2_ENST00000352527.1_Missense_Mutation_p.T60N|KCNAB2_ENST00000378111.1_Missense_Mutation_p.T74N|KCNAB2_ENST00000602612.1_Missense_Mutation_p.T74N|KCNAB2_ENST00000458166.2_Missense_Mutation_p.T7N|KCNAB2_ENST00000378097.1_Missense_Mutation_p.T74N|KCNAB2_ENST00000378083.3_Missense_Mutation_p.T107N|KCNAB2_ENST00000341524.1_Missense_Mutation_p.T74N	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	74					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTCATGACCTTGGCCTAT	0.562																																																0													138	123	129					1																	6142274		2203	4300	6503	SO:0001583	missense	8514			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"Potassium channels", "Aldo-keto reductases"	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.221C>A	chr1.hg19:g.6142274C>A	ENSP00000164247:p.Thr74Asn		A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	ENST00000164247.1	hg19	CCDS55.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332367	0.81801	.	.	ENSG00000069424	ENST00000378111;ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000378087;ENST00000341524;ENST00000352527;ENST00000435937;ENST00000164247;ENST00000378083;ENST00000458166	T;T;T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.33	5.33	0.75918	NADP-dependent oxidoreductase domain (3);	0.095392	0.64402	D	0.000001	T	0.37019	0.0988	L	0.39467	1.215	0.58432	D	0.999997	D;D;D;D	0.65815	0.971;0.995;0.979;0.964	D;D;P;P	0.66979	0.948;0.936;0.88;0.766	T	0.02042	-1.1224	10	0.33940	T	0.23	-23.7432	17.5837	0.87974	0.0:1.0:0.0:0.0	.	107;60;74;74	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	N	74;74;60;60;74;74;74;60;60;74;107;7	ENSP00000367351:T74N;ENSP00000367337:T74N;ENSP00000367332:T60N;ENSP00000400285:T60N;ENSP00000374283:T74N;ENSP00000367327:T74N;ENSP00000340824:T74N;ENSP00000318772:T60N;ENSP00000389151:T60N;ENSP00000164247:T74N;ENSP00000367323:T107N;ENSP00000396167:T7N	ENSP00000164247:T74N	T	+	2	0	KCNAB2	6064861	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.706000	0.74649	2.482000	0.83794	0.563000	0.77884	ACC		0.562	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		A	6142274	C	A	6142274	3	1	301	1	0	0	0	0	1	0	0	0	8012	507	18	4	239	4	KCNAB2	1	6142274	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	4962426	6142274	243108347	2	17895											
SPEN	23013	hgsc.bcm.edu	37	1	16258337	16258337	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:16258337T>G	ENST00000375759.3	+	11	5806	c.5602T>G	c.(5602-5604)Ttg>Gtg	p.L1868V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1868					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTTTTGGAATTGAAGATGGA	0.498																																																0													67	73	71					1																	16258337		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5602T>G	chr1.hg19:g.16258337T>G	ENSP00000364912:p.Leu1868Val		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	T	8.066	0.769236	0.15983	.	.	ENSG00000065526	ENST00000375759	T	0.08807	3.05	5.27	-2.9	0.05648	.	.	.	.	.	T	0.06416	0.0165	L	0.36672	1.1	0.09310	N	1	B	0.22276	0.067	B	0.24155	0.051	T	0.40059	-0.9583	9	0.29301	T	0.29	-8.6361	7.649	0.28337	0.0:0.4283:0.1213:0.4504	.	1868	Q96T58	MINT_HUMAN	V	1868	ENSP00000364912:L1868V	ENSP00000364912:L1868V	L	+	1	2	SPEN	16130924	0.919000	0.31177	0.007000	0.13788	0.912000	0.54170	0.155000	0.16362	-0.878000	0.04007	0.383000	0.25322	TTG		0.498	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		G	16258337	T	G	16258337	3	3	301	1	0	0	0	0	1	0	0	0	15043	1490	52	5	5644	5	SPEN	1	16258337	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	10116063	16258337	232992284	3	17896											
RCAN3	11123	hgsc.bcm.edu	37	1	24840954	24840954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:24840954delA	ENST00000374395.4	+	2	405	c.92delA	c.(91-93)gaafs	p.E31fs	RCAN3_ENST00000436717.2_Frame_Shift_Del_p.E31fs|RCAN3_ENST00000412742.2_Frame_Shift_Del_p.E31fs|RCAN3_ENST00000538532.1_Frame_Shift_Del_p.E31fs|RCAN3_ENST00000374393.2_Frame_Shift_Del_p.E31fs	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	31					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		ATTTTTGGTGAAAATGAAGAT	0.438																																																0													199	184	189					1																	24840954		2203	4300	6503	SO:0001589	frameshift_variant	11123				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.92delA	chr1.hg19:g.24840954delA	ENSP00000363516:p.Glu31fs		A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Frame_Shift_Del	DEL	ENST00000374395.4	hg19	CCDS254.1																																																																																				0.438	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			-	24840954	A	-	24840954	7	5	301	1	0	1	0	1	0	0	0	0	13176	246	9	0	94	0	RCAN3	1	24840954	Frame_Shift_Del	DEL	A	TCGA-B9-A44B-01A-11D-A25F-10	8582617	24840954	224409667	4	17897											
DNALI1	7802	hgsc.bcm.edu	37	1	38027791	38027793	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:38027791_38027793delAGA	ENST00000296218.7	+	5	762_764	c.752_754delAGA	c.(751-756)gagaag>gag	p.K253del	DNALI1_ENST00000541606.1_In_Frame_Del_p.K105del|DNALI1_ENST00000497858.1_3'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	231					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGTGGAGGAGAAGAAGCACAA	0.567																																																0										3,4263		0,3,2130						5.4	1			104	1,8253		0,1,4126	no	coding	DNALI1	NM_003462.3		0,4,6256	A1A1,A1R,RR		0.0121,0.0703,0.0319				4,12516				SO:0001651	inframe_deletion	7802			AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"Axonemal dyneins"	14353	protein-coding gene	gene with protein product	"inner dynein arm, homolog of clamydomonas", "dJ423B22.5 (axonemal dynein light chain (hp28))"	602135	"dynein, axonemal, light intermediate polypeptide 1"			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.752_754delAGA	chr1.hg19:g.38027794_38027796delAGA	ENSP00000296218:p.Lys253del		A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	In_Frame_Del	DEL	ENST00000296218.7	hg19	CCDS420.1																																																																																				0.567	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		-	38027793	AGA	-	38027791	7	5	301	1	0	1	0	1	0	0	0	0	4661	304	11	0	770	0	DNALI1	1	38027791	In_Frame_Del	DEL	AGA	TCGA-B9-A44B-01A-11D-A25F-10	13186837	38027791	211222830	5	17898											
KIAA0494	9813	hgsc.bcm.edu	37	1	47144193	47144194	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:47144193_47144194delAA	ENST00000371933.3	-	11	2403_2404	c.1427_1428delTT	c.(1426-1428)tttfs	p.F476fs	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Intron	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	476	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										CATCGGAATCAAATGCTCTCAA	0.475																																																0																																										SO:0001589	frameshift_variant	9813			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1427_1428delTT	chr1.hg19:g.47144193_47144194delAA	ENSP00000361001:p.Phe476fs		D3DQ23|Q5SXB8	Frame_Shift_Del	DEL	ENST00000371933.3	hg19	CCDS30706.1																																																																																				0.475	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		-	47144194	AA	-	47144193	7	5	301	1	0	1	0	1	0	0	0	0	8181	127	5	0	63	0	KIAA0494	1	47144193	Frame_Shift_Del	DEL	AA	TCGA-B9-A44B-01A-11D-A25F-10	9116402	47144193	202106428	6	17899											
SLC44A3	126969	hgsc.bcm.edu	37	1	95360468	95360468	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:95360468T>C	ENST00000271227.6	+	15	2054	c.1952T>C	c.(1951-1953)aTt>aCt	p.I651T	SLC44A3_ENST00000532427.1_Missense_Mutation_p.I571T|SLC44A3_ENST00000529450.1_Missense_Mutation_p.I618T|SLC44A3_ENST00000527077.1_Missense_Mutation_p.I583T|SLC44A3_ENST00000446120.2_Missense_Mutation_p.I615T|SLC44A3_ENST00000467909.1_Missense_Mutation_p.I603T	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	651					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CTCCAGGCCATTGTGAGATAG	0.403																																																0													93	83	87					1																	95360468		2203	4300	6503	SO:0001583	missense	126969			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1952T>C	chr1.hg19:g.95360468T>C	ENSP00000271227:p.Ile651Thr		B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	hg19	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	T	9.568	1.120299	0.20877	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427;ENST00000532670	T;T;T;T;T;T	0.20069	2.58;2.78;2.1;2.1;2.59;2.11	5.91	2.35	0.29111	.	1.131400	0.06831	N	0.793947	T	0.04861	0.0131	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.0;0.001	T	0.44574	-0.9319	10	0.72032	D	0.01	-0.1874	9.3576	0.38175	0.0:0.1722:0.0:0.8278	.	571;615;583;618;651	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	T	615;651;583;618;603;571;107	ENSP00000389143:I615T;ENSP00000271227:I651T;ENSP00000433641:I583T;ENSP00000431836:I618T;ENSP00000432789:I603T;ENSP00000436661:I571T	ENSP00000271227:I651T	I	+	2	0	SLC44A3	95133056	0.132000	0.22450	0.000000	0.03702	0.004000	0.04260	1.121000	0.31283	0.153000	0.19213	0.454000	0.30748	ATT		0.403	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		C	95360468	T	C	95360468	3	2	301	1	0	0	0	0	1	0	0	0	14643	1493	52	3	2010	3	SLC44A3	1	95360468	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	48216275	95360468	153890153	7	17900											
ATXN7L2	127002	hgsc.bcm.edu	37	1	110029635	110029635	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:110029635G>C	ENST00000369870.3	+	4	320	c.305G>C	c.(304-306)aGa>aCa	p.R102T		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	102										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACAGAAAGAAGACATGGGCCC	0.547																																																0													28	34	32					1																	110029635		2203	4299	6502	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.305G>C	chr1.hg19:g.110029635G>C	ENSP00000358886:p.Arg102Thr			Missense_Mutation	SNP	ENST00000369870.3	hg19	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640777	0.67244	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.29397	1.57	4.57	4.57	0.56435	.	0.000000	0.52532	D	0.000067	T	0.38931	0.1059	L	0.56199	1.76	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.31251	-0.9950	10	0.72032	D	0.01	-7.5006	14.2772	0.66187	0.0:0.0:1.0:0.0	.	102	Q5T6C5	AT7L2_HUMAN	T	102	ENSP00000358886:R102T	ENSP00000358886:R102T	R	+	2	0	ATXN7L2	109831158	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.555000	0.73928	2.090000	0.63153	0.591000	0.81541	AGA		0.547	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		C	110029635	G	C	110029635	3	2	301	1	0	0	0	0	1	0	0	0	1217	942	33	4	319	4	ATXN7L2	1	110029635	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	14669167	110029635	139220986	8	17901											
CTTNBP2NL	55917	hgsc.bcm.edu	37	1	112999419	112999419	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:112999419delG	ENST00000271277.6	+	6	1530	c.1305delG	c.(1303-1305)aagfs	p.K435fs		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	435					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCACTAAGCGTTTATTGG	0.557																																																0													255	260	258					1																	112999419		2203	4300	6503	SO:0001589	frameshift_variant	55917			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1305delG	chr1.hg19:g.112999419delG	ENSP00000271277:p.Lys435fs		B3KMS5|Q96B40	Frame_Shift_Del	DEL	ENST00000271277.6	hg19	CCDS845.1																																																																																				0.557	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		-	112999419	G	-	112999419	7	5	301	1	0	1	0	1	0	0	0	0	4048	962	34	0	1319	0	CTTNBP2NL	1	112999419	Frame_Shift_Del	DEL	G	TCGA-B9-A44B-01A-11D-A25F-10	2969784	112999419	136251202	9	17902											
C1orf125	126859	hgsc.bcm.edu	37	1	179460842	179460842	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:179460842A>C	ENST00000367618.3	+	19	2648	c.2261A>C	c.(2260-2262)aAg>aCg	p.K754T		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	754										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTGACAAGGAAGTTGTACCAA	0.423																																																0													162	155	158					1																	179460842		2203	4300	6503	SO:0001583	missense	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2261A>C	chr1.hg19:g.179460842A>C	ENSP00000356590:p.Lys754Thr		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	hg19	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	8.397	0.841178	0.16891	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.27256	1.68;1.68	5.5	-3.94	0.04130	.	0.252664	0.37393	N	0.002104	T	0.15609	0.0376	L	0.60455	1.87	0.09310	N	1	B;B	0.22800	0.028;0.075	B;B	0.17098	0.01;0.017	T	0.11518	-1.0584	10	0.35671	T	0.21	-0.2597	1.2029	0.01889	0.2479:0.137:0.3481:0.2669	.	712;754	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	T	754;712;688	ENSP00000356590:K754T;ENSP00000391716:K688T	ENSP00000353471:K712T	K	+	2	0	AXDND1	177727465	0.109000	0.22037	0.000000	0.03702	0.156000	0.22039	-0.033000	0.12246	-0.147000	0.11254	-0.326000	0.08463	AAG		0.423	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		C	179460842	A	C	179460842	3	2	301	1	0	0	0	0	1	0	0	0	1995	72	3	5	2331	5	C1orf125	1	179460842	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	66461423	179460842	69789779	10	17903											
ZNF648	127665	hgsc.bcm.edu	37	1	182026912	182026918	+	Frame_Shift_Del	DEL	TTCCTCT	TTCCTCT	-	rs145733361	byFrequency	TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	TTCCTCT	TTCCTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:182026912_182026918delTTCCTCT	ENST00000339948.3	-	2	435_441	c.228_234delAGAGGAA	c.(226-234)aaagaggaafs	p.KEE76fs		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	76					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E77D(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGAATTTCTCTTCCTCTTTGCCCAGTG	0.56																																					NSCLC(71;908 1374 5429 20458 35642)											1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.228_234delAGAGGAA	chr1.hg19:g.182026912_182026918delTTCCTCT	ENSP00000344129:p.Lys76fs		B2RP16	Frame_Shift_Del	DEL	ENST00000339948.3	hg19	CCDS30952.1																																																																																				0.56	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		-	182026918	TTCCTCT	-	182026912	7	5	301	1	0	1	0	1	0	0	0	0	18068	1606	56	0	1476	0	ZNF648	1	182026912	Frame_Shift_Del	DEL	TTCCTCT	TCGA-B9-A44B-01A-11D-A25F-10	2566070	182026912	67223709	11	17904											
ZNF281	23528	hgsc.bcm.edu	37	1	200376815	200376815	+	Silent	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr1:200376815T>C	ENST00000294740.3	-	2	2143	c.2019A>G	c.(2017-2019)caA>caG	p.Q673Q	ZNF281_ENST00000367353.1_Silent_p.Q673Q|ZNF281_ENST00000367352.3_Silent_p.Q637Q	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	673					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CAAAAGCCTGTTGGAGGTATT	0.398																																																0													118	130	126					1																	200376815		2203	4300	6503	SO:0001819	synonymous_variant	23528			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2019A>G	chr1.hg19:g.200376815T>C			A6NF48|B3KMX2|Q5RKW5|Q9NY92	Silent	SNP	ENST00000294740.3	hg19	CCDS1402.1																																																																																				0.398	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		C	200376815	T	C	200376815	2	2	301	1	0	0	0	0	0	0	0	1	17823	1722	60	3		3	ZNF281	1	200376815	Silent	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	18349903	200376815	48873806	12	17905											
HS1BP3	64342	hgsc.bcm.edu	37	2	20818857	20818857	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:20818857C>G	ENST00000304031.3	-	7	1094	c.1069G>C	c.(1069-1071)Gct>Cct	p.A357P		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	357							phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGCCCAGCCACAGCTTCA	0.622																																																0													86	96	93					2																	20818857		2203	4300	6503	SO:0001583	missense	64342				CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.1069G>C	chr2.hg19:g.20818857C>G	ENSP00000305193:p.Ala357Pro		B2RAW2|D6W529|Q86VC2|Q8N367	Missense_Mutation	SNP	ENST00000304031.3	hg19	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376332	0.42105	.	.	ENSG00000118960	ENST00000304031	T	0.19532	2.14	5.64	0.323	0.15893	.	1.521430	0.04126	N	0.317110	T	0.17280	0.0415	L	0.39898	1.24	0.09310	N	0.999997	B	0.10296	0.003	B	0.09377	0.004	T	0.29852	-0.9998	10	0.51188	T	0.08	-2.0508	3.1138	0.06367	0.2876:0.3492:0.2805:0.0827	.	357	Q53T59	H1BP3_HUMAN	P	357	ENSP00000305193:A357P	ENSP00000305193:A357P	A	-	1	0	HS1BP3	20682338	0.000000	0.05858	0.000000	0.03702	0.388000	0.30384	0.116000	0.15561	0.037000	0.15575	0.655000	0.94253	GCT		0.622	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		G	20818857	C	G	20818857	3	3	301	1	0	0	0	0	1	0	0	0	7363	739	26	4	113	4	HS1BP3	2	20818857	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10		20818857	222380516	13	17906											
CCDC121	79635	hgsc.bcm.edu	37	2	27850548	27850548	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:27850548A>G	ENST00000324364.3	-	2	299	c.119T>C	c.(118-120)cTg>cCg	p.L40P	GPN1_ENST00000424214.1_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.L202P|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000407583.3_5'Flank|GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000264718.3_5'Flank|GPN1_ENST00000515877.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	40										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CAGGTATTCCAGAAAGAATCT	0.418																																																0													115	120	119					2																	27850548		2203	4300	6503	SO:0001583	missense	79635			AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.119T>C	chr2.hg19:g.27850548A>G	ENSP00000339087:p.Leu40Pro		B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	hg19	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.174659	0.57692	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.48201	0.82;0.82	5.09	1.14	0.20703	.	0.656444	0.13268	N	0.400745	T	0.62502	0.2433	M	0.70275	2.135	0.09310	N	0.999997	D	0.76494	0.999	D	0.70016	0.967	T	0.51663	-0.8677	10	0.72032	D	0.01	-22.9356	8.2278	0.31579	0.5274:0.0:0.0:0.4726	.	40	Q6ZUS5	CC121_HUMAN	P	40;202	ENSP00000339087:L40P;ENSP00000412150:L202P	ENSP00000339087:L40P	L	-	2	0	CCDC121	27704052	0.720000	0.27996	0.001000	0.08648	0.370000	0.29829	1.010000	0.29898	-0.057000	0.13199	0.482000	0.46254	CTG		0.418	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		G	27850548	A	G	27850548	3	3	301	1	0	0	0	0	1	0	0	0	2759	188	7	3	721	3	CCDC121	2	27850548	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	7031691	27850548	215348825	14	17907											
ALK	238	hgsc.bcm.edu	37	2	29420473	29420473	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:29420473C>A	ENST00000389048.3	-	27	4914	c.4008G>T	c.(4006-4008)caG>caT	p.Q1336H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCAGAACTTCCTGGTTGCTTT	0.507			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													92	96	95					2																	29420473		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4008G>T	chr2.hg19:g.29420473C>A	ENSP00000373700:p.Gln1336His		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	hg19	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093137	0.76756	.	.	ENSG00000171094	ENST00000389048	D	0.82984	-1.67	5.8	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44688	U	0.000424	D	0.84383	0.5460	L	0.31578	0.945	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.81876	-0.0731	9	.	.	.	.	12.0878	0.53708	0.0:0.8616:0.0:0.1384	.	1336	Q9UM73	ALK_HUMAN	H	1336	ENSP00000373700:Q1336H	.	Q	-	3	2	ALK	29273977	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.181000	0.42547	0.788000	0.33755	0.561000	0.74099	CAG		0.507	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		A	29420473	C	A	29420473	3	1	301	1	0	0	0	0	1	0	0	0	525	680	24	4	866	4	ALK	2	29420473	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	1569925	29420473	213778900	15	17908											
RGPD3	653489	hgsc.bcm.edu	37	2	107073432	107073432	+	Silent	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:107073432G>A	ENST00000409886.3	-	4	487	c.400C>T	c.(400-402)Cta>Tta	p.L134L	RGPD3_ENST00000304514.7_Silent_p.L134L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	134					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTACCTTTAGTTTATAAATT	0.333																																																0													9	21	17					2																	107073432		628	1473	2101	SO:0001819	synonymous_variant	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.400C>T	chr2.hg19:g.107073432G>A			B8ZZM4	Silent	SNP	ENST00000409886.3	hg19	CCDS46379.1																																																																																				0.333	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		A	107073432	G	A	107073432	2	1	301	1	0	0	0	0	0	0	0	1	13293	1020	36	2		2	RGPD3	2	107073432	Silent	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	77652959	107073432	136125941	16	17909											
SCN2A	6326	hgsc.bcm.edu	37	2	166153545	166153545	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:166153545A>T	ENST00000375437.2	+	3	576	c.286A>T	c.(286-288)Aaa>Taa	p.K96*	SCN2A_ENST00000375427.2_Nonsense_Mutation_p.K96*|SCN2A_ENST00000357398.3_Nonsense_Mutation_p.K96*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.K96*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	96					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTATTGAATAAAGGGAAAGC	0.289																																																0													58	56	57					2																	166153545		2203	4298	6501	SO:0001587	stop_gained	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.286A>T	chr2.hg19:g.166153545A>T	ENSP00000364586:p.Lys96*		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Nonsense_Mutation	SNP	ENST00000375437.2	hg19	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	38	6.708516	0.97780	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.32	5.32	0.75619	.	0.077674	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5789	0.76418	1.0:0.0:0.0:0.0	.	.	.	.	X	96	.	ENSP00000283256:K96X	K	+	1	0	SCN2A	165861791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.801000	0.55545	2.151000	0.67156	0.482000	0.46254	AAA		0.289	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		T	166153545	A	T	166153545	4	4	301	1	0	0	0	0	0	1	0	0	13922	363	13	5	292	5	SCN2A	2	166153545	Nonsense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	59080113	166153545	77045828	17	17910											
LRP2	4036	hgsc.bcm.edu	37	2	170055306	170055306	+	Silent	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:170055306A>G	ENST00000263816.3	-	45	8853	c.8568T>C	c.(8566-8568)ccT>ccC	p.P2856P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2856	LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TGCAATAAGTAGGGTTTTCAT	0.383																																																0													155	142	147					2																	170055306		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8568T>C	chr2.hg19:g.170055306A>G			O00711|Q16215	Silent	SNP	ENST00000263816.3	hg19	CCDS2232.1																																																																																				0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170055306	A	G	170055306	2	3	301	1	0	0	0	0	0	0	0	1	8958	407	15	3		3	LRP2	2	170055306	Silent	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	3901761	170055306	73144067	18	17911											
PGAP1	80055	hgsc.bcm.edu	37	2	197784853	197784853	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:197784853G>T	ENST00000354764.4	-	2	283	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.L15M|PGAP1_ENST00000409475.1_Missense_Mutation_p.L57M	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	57					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CGTTTTGCCAGTTTCTTTGGA	0.343																																																0													120	125	123					2																	197784853		2203	4300	6503	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.169C>A	chr2.hg19:g.197784853G>T	ENSP00000346809:p.Leu57Met		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	hg19	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258007	0.59321	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	.	.	.	5.11	3.32	0.38043	.	0.237063	0.36519	N	0.002555	T	0.33847	0.0877	L	0.29908	0.895	0.27991	N	0.935656	D;D	0.71674	0.958;0.998	P;P	0.59221	0.66;0.854	T	0.13202	-1.0518	9	0.35671	T	0.21	-5.081	2.3431	0.04264	0.1595:0.2325:0.4637:0.1442	.	57;57	Q75T13-3;Q75T13	.;PGAP1_HUMAN	M	57;57;15	.	ENSP00000346809:L57M	L	-	1	2	PGAP1	197493098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.666000	0.37460	0.852000	0.35287	0.655000	0.94253	CTG		0.343	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		T	197784853	G	T	197784853	3	4	301	1	0	0	0	0	1	0	0	0	11779	1020	36	4	2703	4	PGAP1	2	197784853	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	27729547	197784853	45414520	19	17912											
FARP2	9855	hgsc.bcm.edu	37	2	242407764	242407764	+	Silent	SNP	C	C	G	rs138469271		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr2:242407764C>G	ENST00000264042.3	+	18	2273	c.2103C>G	c.(2101-2103)ccC>ccG	p.P701P		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	701	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ATTACAGCCCCGGGCACCATG	0.637																																																0													42	36	38					2																	242407764		2203	4300	6503	SO:0001819	synonymous_variant	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2103C>G	chr2.hg19:g.242407764C>G			B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	hg19	CCDS33424.1																																																																																				0.637	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			G	242407764	C	G	242407764	2	3	301	1	0	0	0	0	0	0	0	1	5679	639	23	4		4	FARP2	2	242407764	Silent	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	44622911	242407764	791609	20	17913											
MKRN2	23609	hgsc.bcm.edu	37	3	12611673	12611673	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:12611673G>A	ENST00000170447.7	+	3	396	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	MKRN2_ENST00000411987.1_Missense_Mutation_p.V44I|MKRN2_ENST00000448482.1_Missense_Mutation_p.V85I	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	87					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TCCTTCCGAGGTCACTGCATC	0.547																																																0													97	82	87					3																	12611673		2203	4300	6503	SO:0001583	missense	23609				CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"RING-type (C3HC4) zinc fingers"	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.259G>A	chr3.hg19:g.12611673G>A	ENSP00000170447:p.Val87Ile		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	hg19	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	G	2.117	-0.402351	0.04865	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.22539	2.79;1.96;1.95	5.53	-1.17	0.09648	.	0.892392	0.09710	N	0.765804	T	0.05686	0.0149	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.35773	-0.9775	10	0.33141	T	0.24	.	4.2105	0.10509	0.361:0.332:0.2385:0.0685	.	44;85;87	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	I	87;44;85	ENSP00000170447:V87I;ENSP00000396340:V44I;ENSP00000397983:V85I	ENSP00000170447:V87I	V	+	1	0	MKRN2	12586673	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.048000	0.14078	0.001000	0.14605	-0.311000	0.09066	GTC		0.547	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		A	12611673	G	A	12611673	3	1	301	1	0	0	0	0	1	0	0	0	9609	1261	44	2	269	2	MKRN2	3	12611673	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10		12611673	185410757	21	17914											
RPSA	3921	hgsc.bcm.edu	37	3	39453553	39453556	+	Splice_Site	DEL	GTAT	GTAT	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	GTAT	GTAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:39453553_39453556delGTAT	ENST00000301821.6	+	6	902		c.e6+1		SNORA62_ENST00000365493.1_RNA|RPSA_ENST00000443003.1_Splice_Site|RPSA_ENST00000478027.1_Splice_Site	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TTCCCTACTGGTATGTATCAGGAT	0.431																																																0																																										SO:0001630	splice_region_variant	3921			S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"laminin receptor 1 (67kD, ribosomal protein SA)"	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.793+1GTAT>-	chr3.hg19:g.39453557_39453560delGTAT				Frame_Shift_Del	DEL	ENST00000301821.6	hg19	CCDS2686.1																																																																																				0.431	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	NM_002295	Intron	-	39453556	GTAT	-	39453553	8	5	301	1	0	1	0	1	0	0	1	0	13669	1275	44	0	812	0	RPSA	3	39453553	Splice_Site	DEL	GTAT	TCGA-B9-A44B-01A-11D-A25F-10	26841880	39453553	158568877	22	17915											
SETD2	29072	hgsc.bcm.edu	37	3	47163966	47163967	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:47163966_47163967insC	ENST00000409792.3	-	3	2201_2202	c.2159_2160insG	c.(2158-2160)ggafs	p.G720fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	720					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TATTCTGAAATCCATTTGATGA	0.391			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2160dupG	chr3.hg19:g.47163968_47163968dupC	ENSP00000386759:p.Gly720fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	hg19	CCDS2749.2																																																																																				0.391	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		C	47163967	-	C	47163966	7	5	301	1	0	1	1	0	0	0	0	0	14137	1422	50	0	5610	0	SETD2	3	47163966	Frame_Shift_Ins	INS	-	TCGA-B9-A44B-01A-11D-A25F-10	7710413	47163966	150858464	23	17916											
POC1A	25886	hgsc.bcm.edu	37	3	52181040	52181040	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:52181040C>A	ENST00000296484.2	-	5	566	c.527G>T	c.(526-528)aGc>aTc	p.S176I	POC1A_ENST00000394970.2_Missense_Mutation_p.S176I|POC1A_ENST00000474012.1_Missense_Mutation_p.S138I	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	176					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						ACATTCCCGGCTGCTCTTGTC	0.592																																																0													107	98	101					3																	52181040		2203	4300	6503	SO:0001583	missense	25886			AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"WD repeat domain containing"	24488	protein-coding gene	gene with protein product		614783	"WD repeat domain 51A", "POC1 centriolar protein homolog A (Chlamydomonas)"	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.527G>T	chr3.hg19:g.52181040C>A	ENSP00000296484:p.Ser176Ile		A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	hg19	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831256	0.91036	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	D;D;D	0.82803	-1.65;-1.65;-1.65	5.13	4.19	0.49359	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.041315	0.85682	D	0.000000	D	0.89160	0.6636	M	0.84082	2.675	0.80722	D	1	D;D	0.62365	0.974;0.991	P;P	0.56163	0.767;0.793	D	0.91017	0.4854	10	0.87932	D	0	.	15.0503	0.71862	0.0:0.8574:0.1426:0.0	.	176;176	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	I	176;176;138	ENSP00000296484:S176I;ENSP00000378421:S176I;ENSP00000418968:S138I	ENSP00000296484:S176I	S	-	2	0	POC1A	52156080	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.074000	0.50065	2.555000	0.86185	0.563000	0.77884	AGC		0.592	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		A	52181040	C	A	52181040	3	1	301	1	0	0	0	0	1	0	0	0	12177	797	28	4	724	4	POC1A	3	52181040	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	5017074	52181040	145841390	24	17917											
STAB1	23166	hgsc.bcm.edu	37	3	52555670	52555671	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:52555670_52555671insT	ENST00000321725.6	+	57	6193_6194	c.6117_6118insT	c.(6118-6120)ttcfs	p.F2040fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2040					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGGCTCCTGCTTCTGTGATGA	0.604																																																0																																										SO:0001589	frameshift_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6119dupT	chr3.hg19:g.52555672_52555672dupT	ENSP00000312946:p.Phe2040fs		A7E297|Q8IUH0|Q8IUH1|Q93072	Frame_Shift_Ins	INS	ENST00000321725.6	hg19	CCDS33768.1																																																																																				0.604	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		T	52555671	-	T	52555670	7	5	301	1	0	1	1	0	0	0	0	0	15242	805	28	0	6343	0	STAB1	3	52555670	Frame_Shift_Ins	INS	-	TCGA-B9-A44B-01A-11D-A25F-10	374630	52555670	145466760	25	17918											
PBRM1	55193	hgsc.bcm.edu	37	3	52637647	52637647	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:52637647G>T	ENST00000296302.7	-	17	2670	c.2669C>A	c.(2668-2670)gCa>gAa	p.A890E	PBRM1_ENST00000409114.3_Missense_Mutation_p.A905E|PBRM1_ENST00000394830.3_Missense_Mutation_p.A890E|PBRM1_ENST00000337303.4_Missense_Mutation_p.A890E|PBRM1_ENST00000410007.1_Missense_Mutation_p.A890E|PBRM1_ENST00000356770.4_Missense_Mutation_p.A858E|PBRM1_ENST00000409057.1_Missense_Mutation_p.A890E|PBRM1_ENST00000409767.1_Missense_Mutation_p.A905E			Q86U86	PB1_HUMAN	polybromo 1	890					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAGCTGAGTGCCGGTGAAAG	0.338			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													82	78	79					3																	52637647		2203	4299	6502	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2669C>A	chr3.hg19:g.52637647G>T	ENSP00000296302:p.Ala890Glu		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	hg19		.	.	.	.	.	.	.	.	.	.	G	33	5.240611	0.95240	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.54675	0.67;0.59;0.71;0.66;0.68;0.56;1.14;0.67;0.69;0.97	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.76018	0.3929	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0;0.999;0.999;1.0	T	0.78237	-0.2282	10	0.87932	D	0	.	19.9278	0.97110	0.0:0.0:1.0:0.0	.	890;890;890;890;905;905;890;858;890	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	E	858;890;890;890;890;890;905;905;890;849	ENSP00000349213:A858E;ENSP00000378307:A890E;ENSP00000296302:A890E;ENSP00000338302:A890E;ENSP00000386593:A890E;ENSP00000386529:A890E;ENSP00000386643:A905E;ENSP00000386601:A905E;ENSP00000387775:A890E;ENSP00000397662:A849E	ENSP00000296302:A890E	A	-	2	0	PBRM1	52612687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.779000	0.99018	2.770000	0.95276	0.650000	0.86243	GCA		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52637647	G	T	52637647	3	4	301	1	0	0	0	0	1	0	0	0	11493	1319	46	4	2287	4	PBRM1	3	52637647	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	81977	52637647	145384783	26	17919											
SLMAP	7871	hgsc.bcm.edu	37	3	57743531	57743531	+	Silent	SNP	A	A	G	rs147270008		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:57743531A>G	ENST00000428312.1	+	1	247	c.153A>G	c.(151-153)ctA>ctG	p.L51L	SLMAP_ENST00000295951.3_Silent_p.L51L|SLMAP_ENST00000295952.3_Silent_p.L51L|SLMAP_ENST00000449503.2_Silent_p.L51L|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000383718.3_Silent_p.L51L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	51	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Necessary for targeting to centrosomes. {ECO:0000250}.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GCAAAGTGCTATCAAGGAACC	0.498																																																0								A		1,4405		0,1,2202	78	70	73		153	1.8	1	3	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	SLMAP	NM_007159.2		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		51/812	57743531	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.153A>G	chr3.hg19:g.57743531A>G			Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	hg19																																																																																					0.498	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		G	57743531	A	G	57743531	2	3	301	1	0	0	0	0	0	0	0	1	14755	436	16	3		3	SLMAP	3	57743531	Silent	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	5105884	57743531	140278899	27	17920											
THPO	7066	hgsc.bcm.edu	37	3	184090635	184090635	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:184090635A>C	ENST00000204615.7	-	6	942	c.728T>G	c.(727-729)aTc>aGc	p.I243S	THPO_ENST00000421442.2_Missense_Mutation_p.N204K|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000445696.2_Missense_Mutation_p.I239S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	243					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTATCCGGGGATTTGGTCCAG	0.552																																																0													88	86	87					3																	184090635		2203	4300	6503	SO:0001583	missense	7066				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.728T>G	chr3.hg19:g.184090635A>C	ENSP00000204615:p.Ile243Ser		A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	hg19	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.184|0.184	-1.059924|-1.059924	0.01950|0.01950	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.34859|0.36157	1.34;1.35|1.27	4.34|4.34	-1.07|-1.07	0.09968|0.09968	Four-helical cytokine, core (1);|.	1.174950|.	0.06383|.	N|.	0.715527|.	T|T	0.21718|0.21718	0.0523|0.0523	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|B	0.24426|0.28291	0.103;0.063|0.206	B;B|B	0.25140|0.28139	0.058;0.026|0.086	T|T	0.23547|0.23547	-1.0185|-1.0185	10|9	0.66056|0.42905	D|T	0.02|0.14	-23.2862|-23.2862	3.8944|3.8944	0.09133|0.09133	0.3909:0.3883:0.2208:0.0|0.3909:0.3883:0.2208:0.0	.|.	239;243|204	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	S|K	243;239;204|204	ENSP00000204615:I243S;ENSP00000410763:I239S|ENSP00000411704:N204K	ENSP00000204615:I243S|ENSP00000411704:N204K	I|N	-|-	2|3	0|2	THPO|THPO	185573329|185573329	0.002000|0.002000	0.14202|0.14202	0.093000|0.093000	0.20910|0.20910	0.720000|0.720000	0.41350|0.41350	-0.313000|-0.313000	0.08103|0.08103	0.205000|0.205000	0.20568|0.20568	0.378000|0.378000	0.23410|0.23410	ATC|AAT		0.552	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		C	184090635	A	C	184090635	3	2	301	1	0	0	0	0	1	0	0	0	15877	333	12	5	337	5	THPO	3	184090635	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	126347104	184090635	13931795	28	17921											
EIF4A2	1974	hgsc.bcm.edu	37	3	186503770	186503770	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr3:186503770G>T	ENST00000323963.5	+	5	511	c.447G>T	c.(445-447)caG>caT	p.Q149H	SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363548.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.Q150H|EIF4A2_ENST00000356531.5_Missense_Mutation_p.Q54H|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	149	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AAAAACTGCAGGCTGAAGCAC	0.393			T	BCL6	NHL																																		Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0													94	87	90					3																	186503770		2203	4300	6503	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.447G>T	chr3.hg19:g.186503770G>T	ENSP00000326381:p.Gln149His		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	hg19	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761816	0.69763	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.04917	3.53;3.53;3.53	4.51	4.51	0.55191	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.40818	U	0.001006	T	0.15089	0.0364	L	0.45051	1.395	0.80722	D	1	D;P;P;P	0.67145	0.996;0.913;0.836;0.865	P;P;B;P	0.59115	0.852;0.71;0.382;0.516	T	0.00389	-1.1770	10	0.87932	D	0	-9.8507	15.0932	0.72211	0.0:0.0:1.0:0.0	.	5;54;150;149	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	H	149;150;54	ENSP00000326381:Q149H;ENSP00000398370:Q150H;ENSP00000348925:Q54H	ENSP00000326381:Q149H	Q	+	3	2	EIF4A2	187986464	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.890000	0.69774	2.497000	0.84241	0.650000	0.86243	CAG		0.393	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		T	186503770	G	T	186503770	3	4	301	1	0	0	0	0	1	0	0	0	5027	991	35	4	465	4	EIF4A2	3	186503770	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	2413135	186503770	11518660	29	17922											
TMPRSS11A	339967	hgsc.bcm.edu	37	4	68777111	68777111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr4:68777111delG	ENST00000334830.7	-	10	1961	c.1215delC	c.(1213-1215)tacfs	p.Y405fs	TMPRSS11A_ENST00000396188.2_Frame_Shift_Del_p.Y402fs|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Frame_Shift_Del_p.Y401fs			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	405	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCACTTGTGTGTAGACTCCAG	0.408																																					NSCLC(26;2 894 10941 14480 22546)											0													192	181	185					4																	68777111		2203	4300	6503	SO:0001589	frameshift_variant	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1215delC	chr4.hg19:g.68777111delG	ENSP00000334611:p.Tyr405fs		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Frame_Shift_Del	DEL	ENST00000334830.7	hg19	CCDS3519.1																																																																																				0.408	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		-	68777111	G	-	68777111	7	5	301	1	0	1	0	1	0	0	0	0	16244	1372	48	0	54	0	TMPRSS11A	4	68777111	Frame_Shift_Del	DEL	G	TCGA-B9-A44B-01A-11D-A25F-10		68777111	122377165	30	17923											
ZNF622	90441	hgsc.bcm.edu	37	5	16465479	16465479	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:16465479A>G	ENST00000308683.2	-	1	422	c.296T>C	c.(295-297)gTg>gCg	p.V99A		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	99					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CACTGCCTGCACGGCCTTCTT	0.537																																																0													155	139	145					5																	16465479		2203	4300	6503	SO:0001583	missense	90441			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.296T>C	chr5.hg19:g.16465479A>G	ENSP00000310042:p.Val99Ala			Missense_Mutation	SNP	ENST00000308683.2	hg19	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814522	0.50527	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.81	3.65	0.41850	.	0.199006	0.45126	D	0.000388	T	0.46639	0.1403	M	0.65975	2.015	0.41784	D	0.989838	B	0.15141	0.012	B	0.09377	0.004	T	0.36432	-0.9748	9	0.02654	T	1	-37.7849	7.9359	0.29929	0.8407:0.0:0.1593:0.0	.	99	Q969S3	ZN622_HUMAN	A	99	.	ENSP00000310042:V99A	V	-	2	0	ZNF622	16518479	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	5.190000	0.65104	0.855000	0.35359	0.528000	0.53228	GTG		0.537	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		G	16465479	A	G	16465479	3	3	301	1	0	0	0	0	1	0	0	0	18051	159	6	3	1161	3	ZNF622	5	16465479	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10		16465479	164449781	31	17924											
MYO10	4651	hgsc.bcm.edu	37	5	16685914	16685914	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:16685914A>C	ENST00000513610.1	-	29	4377	c.3923T>G	c.(3922-3924)gTc>gGc	p.V1308G	MYO10_ENST00000427430.2_Missense_Mutation_p.V665G|MYO10_ENST00000274203.9_Missense_Mutation_p.V665G|MYO10_ENST00000505695.1_Missense_Mutation_p.V647G|MYO10_ENST00000515803.1_Missense_Mutation_p.V647G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1308	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGACGCGTGGACCTGACTCAG	0.592																																																0													61	61	61					5																	16685914		2160	4271	6431	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3923T>G	chr5.hg19:g.16685914A>C	ENSP00000421280:p.Val1308Gly		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	hg19	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889699	0.91889	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.51	5.51	0.81932	Pleckstrin homology domain (3);	.	.	.	.	T	0.46151	0.1378	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.57057	-0.7876	9	0.87932	D	0	.	15.6429	0.77020	1.0:0.0:0.0:0.0	.	187;949;1308	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	G	1308;647;665;647;665	ENSP00000421280:V1308G;ENSP00000425051:V647G;ENSP00000274203:V665G;ENSP00000421170:V647G;ENSP00000391106:V665G	ENSP00000274203:V665G	V	-	2	0	MYO10	16738914	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.331000	0.96430	2.092000	0.63282	0.523000	0.50628	GTC		0.592	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		C	16685914	A	C	16685914	3	2	301	1	0	0	0	0	1	0	0	0	10064	275	10	5	2305	5	MYO10	5	16685914	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	220435	16685914	164229346	32	17925											
CDH9	1007	hgsc.bcm.edu	37	5	26915851	26915851	+	Missense_Mutation	SNP	C	C	T	rs150604531		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:26915851C>T	ENST00000231021.4	-	3	582	c.410G>A	c.(409-411)cGg>cAg	p.R137Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	137	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCACCTGCCGCCCAGTTTT	0.383																																					Melanoma(8;187 585 15745 40864 52829)											0								C	GLN/ARG	0,4406		0,0,2203	136	136	136		410	4.6	0.5	5	dbSNP_134	136	3,8595	3.0+/-9.4	0,3,4296	no	missense	CDH9	NM_016279.3	43	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	benign	137/790	26915851	3,13001	2203	4299	6502	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.410G>A	chr5.hg19:g.26915851C>T	ENSP00000231021:p.Arg137Gln		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	hg19	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525965	0.44969	0.0	3.49E-4	ENSG00000113100	ENST00000231021	T	0.50548	0.74	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.353060	0.31031	N	0.008396	T	0.35595	0.0937	L	0.39514	1.22	0.09310	N	1	B	0.28512	0.214	B	0.25405	0.06	T	0.16424	-1.0403	9	.	.	.	.	10.1395	0.42728	0.0:0.9063:0.0:0.0937	.	137	Q9ULB4	CADH9_HUMAN	Q	137	ENSP00000231021:R137Q	.	R	-	2	0	CDH9	26951608	0.001000	0.12720	0.540000	0.28089	0.988000	0.76386	1.388000	0.34442	2.275000	0.75901	0.650000	0.86243	CGG		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		T	26915851	C	T	26915851	3	4	301	1	0	0	0	0	1	0	0	0	3119	652	23	1	1999	1	CDH9	5	26915851	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	10229937	26915851	153999409	33	17926											
PRRC1	133619	hgsc.bcm.edu	37	5	126860514	126860514	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:126860514G>C	ENST00000296666.8	+	3	583	c.395G>C	c.(394-396)gGa>gCa	p.G132A	PRRC1_ENST00000512635.2_Missense_Mutation_p.G132A|PRRC1_ENST00000442138.2_Missense_Mutation_p.G132A	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	132						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		CCTATATCAGGATTTTCTGTT	0.507																																																0													145	149	148					5																	126860514		2203	4300	6503	SO:0001583	missense	133619			AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.395G>C	chr5.hg19:g.126860514G>C	ENSP00000296666:p.Gly132Ala		Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	hg19	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265327	0.59431	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000414018;ENST00000512635;ENST00000512535	.	.	.	5.06	5.06	0.68205	.	0.174179	0.49916	D	0.000122	T	0.41926	0.1180	L	0.31207	0.915	0.53005	D	0.999966	B;P	0.42375	0.214;0.778	B;B	0.37989	0.052;0.262	T	0.29971	-0.9994	9	0.30078	T	0.28	-20.0859	17.5874	0.87986	0.0:0.0:1.0:0.0	.	132;132	Q96M27;Q96M27-5	PRRC1_HUMAN;.	A	132	.	ENSP00000296666:G132A	G	+	2	0	PRRC1	126888413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.592000	0.67543	2.632000	0.89209	0.655000	0.94253	GGA		0.507	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		C	126860514	G	C	126860514	3	2	301	1	0	0	0	0	1	0	0	0	12609	1174	41	4	401	4	PRRC1	5	126860514	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	99944663	126860514	54054746	34	17927											
MATR3	9782	hgsc.bcm.edu	37	5	138643239	138643239	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:138643239G>A	ENST00000394805.3	+	2	470	c.135G>A	c.(133-135)atG>atA	p.M45I	MATR3_ENST00000361059.2_Missense_Mutation_p.M45I|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.M45I|MATR3_ENST00000510056.1_Missense_Mutation_p.M45I|MATR3_ENST00000502929.1_Missense_Mutation_p.M45I|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.M45I	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	45					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTGGAAGGATGAACCAGGGTA	0.488																																																0													144	135	138					5																	138643239		2203	4300	6503	SO:0001583	missense	9782			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.135G>A	chr5.hg19:g.138643239G>A	ENSP00000378284:p.Met45Ile		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	hg19	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461853	0.43736	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000514694;ENST00000502929;ENST00000394800;ENST00000505016;ENST00000502394;ENST00000394805;ENST00000504045;ENST00000510056;ENST00000508689;ENST00000514488;ENST00000503340;ENST00000504023	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.81044	0.4741	N	0.14661	0.345	0.51233	D	0.999917	P;B;P	0.45126	0.851;0.018;0.851	P;B;P	0.55391	0.775;0.131;0.775	T	0.83121	-0.0118	10	0.72032	D	0.01	-7.6365	20.4366	0.99092	0.0:0.0:1.0:0.0	.	45;45;45	D6REM6;A8MXP9;P43243	.;.;MATR3_HUMAN	I	45	ENSP00000423533:M45I;ENSP00000354346:M45I;ENSP00000422233:M45I;ENSP00000422319:M45I;ENSP00000378279:M45I;ENSP00000424431:M45I;ENSP00000427168:M45I;ENSP00000378284:M45I;ENSP00000423290:M45I;ENSP00000426743:M45I;ENSP00000422137:M45I;ENSP00000426801:M45I;ENSP00000422590:M45I;ENSP00000421145:M45I	ENSP00000354346:M45I	M	+	3	0	MATR3	138671138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.685000	0.74543	2.843000	0.97960	0.585000	0.79938	ATG		0.488	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		A	138643239	G	A	138643239	3	1	301	1	0	0	0	0	1	0	0	0	9339	1290	45	2	137	2	MATR3	5	138643239	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	11782725	138643239	42272021	35	17928											
GRPEL2	134266	hgsc.bcm.edu	37	5	148730494	148730494	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr5:148730494C>T	ENST00000329271.3	+	4	437	c.327C>T	c.(325-327)ttC>ttT	p.F109F	GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_Missense_Mutation_p.S82F|GRPEL2_ENST00000507562.1_3'UTR	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	109					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGAGTTTCTGTAAGGACT	0.478																																																0													90	99	96					5																	148730494		2203	4300	6503	SO:0001819	synonymous_variant	134266			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.327C>T	chr5.hg19:g.148730494C>T			B4DFA6|Q49AJ6	Silent	SNP	ENST00000329271.3	hg19	CCDS4295.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925419	0.73213	.	.	ENSG00000164284	ENST00000416916	.	.	.	6.06	4.27	0.50696	.	.	.	.	.	T	0.26882	0.0658	.	.	.	0.29129	N	0.879743	B	0.23249	0.082	B	0.22386	0.039	T	0.20739	-1.0266	6	.	.	.	-1.559	7.4128	0.27027	0.1374:0.7272:0.0:0.1354	.	82	B4DFA6	.	F	82	.	.	S	+	2	0	GRPEL2	148710687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.587000	0.36622	0.866000	0.35629	0.655000	0.94253	TCT		0.478	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252327.1	NM_152407		T	148730494	C	T	148730494	2	4	301	1	0	0	0	0	0	0	0	1	6809	912	32	2		2	GRPEL2	5	148730494	Silent	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	10087255	148730494	32184766	36	17929											
DSP	1832	hgsc.bcm.edu	37	6	7562996	7562996	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:7562996delA	ENST00000379802.3	+	5	1050	c.709delA	c.(709-711)aaafs	p.K237fs	DSP_ENST00000418664.2_Frame_Shift_Del_p.K237fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	237	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGCTGGACAAAATCAAAGC	0.507																																																0													119	119	119					6																	7562996		2203	4300	6503	SO:0001589	frameshift_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.709delA	chr6.hg19:g.7562996delA	ENSP00000369129:p.Lys237fs		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	ENST00000379802.3	hg19	CCDS4501.1																																																																																				0.507	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		-	7562996	A	-	7562996	7	5	301	1	0	1	0	1	0	0	0	0	4783	131	5	0	727	0	DSP	6	7562996	Frame_Shift_Del	DEL	A	TCGA-B9-A44B-01A-11D-A25F-10		7562996	163552071	37	17930											
SLC17A3	10786	hgsc.bcm.edu	37	6	25850278	25850278	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:25850278delA	ENST00000360657.3	-	8	1172	c.887delT	c.(886-888)ttafs	p.L296fs	SLC17A3_ENST00000397060.4_Frame_Shift_Del_p.L374fs|SLC17A3_ENST00000361703.6_Frame_Shift_Del_p.L296fs			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	296					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GTTCTTACCTAAAATTGTGGC	0.408																																																0													97	96	97					6																	25850278		2203	4300	6503	SO:0001589	frameshift_variant	10786			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.887delT	chr6.hg19:g.25850278delA	ENSP00000353873:p.Leu296fs		B7WNJ5|B7Z511|Q8WWC7|Q9H533	Frame_Shift_Del	DEL	ENST00000360657.3	hg19	CCDS4566.2																																																																																				0.408	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			-	25850278	A	-	25850278	7	5	301	1	0	1	0	1	0	0	0	0	14424	372	13	0	391	0	SLC17A3	6	25850278	Frame_Shift_Del	DEL	A	TCGA-B9-A44B-01A-11D-A25F-10	18287282	25850278	145264789	38	17931											
MDC1	9656	hgsc.bcm.edu	37	6	30681013	30681013	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:30681013C>A	ENST00000376406.3	-	5	1353	c.706G>T	c.(706-708)Gct>Tct	p.A236S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.A236S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	236	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTTCTGGCAGCTGAGGAGGCC	0.537								Other conserved DNA damage response genes																																								0													90	99	96					6																	30681013		1509	2708	4217	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.706G>T	chr6.hg19:g.30681013C>A	ENSP00000365588:p.Ala236Ser		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	hg19	CCDS34384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.58|10.58	1.390558|1.390558	0.25118|0.25118	.|.	.|.	ENSG00000137337|ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104;ENST00000435797|ENST00000452213	T;T|.	0.04119|.	3.79;3.7|.	5.31|5.31	-0.775|-0.775	0.10988|0.10988	.|.	0.429453|.	0.17269|.	N|.	0.180468|.	T|T	0.08802|0.08802	0.0218|0.0218	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	P;B;B|.	0.36392|.	0.551;0.129;0.261|.	B;B;B|.	0.31751|.	0.135;0.082;0.063|.	T|T	0.35624|0.35624	-0.9781|-0.9781	10|6	0.41790|0.30854	T|T	0.15|0.27	-1.711|-1.711	0.5485|0.5485	0.00658|0.00658	0.2846:0.3351:0.1383:0.242|0.2846:0.3351:0.1383:0.242	.|.	236;108;236|.	Q14676-2;B4DYH4;Q14676|.	.;.;MDC1_HUMAN|.	S|I	236;236;236;108;236|235	ENSP00000365588:A236S;ENSP00000365587:A236S|.	ENSP00000365587:A236S|ENSP00000404936:S235I	A|S	-|-	1|2	0|0	MDC1|MDC1	30788992|30788992	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.005000|0.005000	0.13129|0.13129	-0.368000|-0.368000	0.08040|0.08040	-0.844000|-0.844000	0.03045|0.03045	GCT|AGC		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		A	30681013	C	A	30681013	3	1	301	1	0	0	0	0	1	0	0	0	9405	797	28	4	5607	4	MDC1	6	30681013	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	4830735	30681013	140434054	39	17932											
TCP11	6954	hgsc.bcm.edu	37	6	35086064	35086064	+	Silent	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:35086064T>G	ENST00000512012.1	-	9	1650	c.1494A>C	c.(1492-1494)acA>acC	p.T498T	TCP11_ENST00000244645.3_Silent_p.T436T|TCP11_ENST00000373974.4_Silent_p.T465T|TCP11_ENST00000412155.2_Silent_p.T460T|TCP11_ENST00000418521.2_Silent_p.T435T|TCP11_ENST00000373979.2_Silent_p.T436T|TCP11_ENST00000444780.2_Silent_p.T506T|TCP11_ENST00000311875.5_Silent_p.T511T			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	498					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ACTCCACTTTTGTTTCCAGTG	0.498																																																0													133	135	134					6																	35086064		2203	4300	6503	SO:0001819	synonymous_variant	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1494A>C	chr6.hg19:g.35086064T>G			B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	hg19		.	.	.	.	.	.	.	.	.	.	T	11.91	1.779912	0.31502	.	.	ENSG00000124678	ENST00000502480	.	.	.	5.32	-1.75	0.08031	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.38093	D	0.937032	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	-4.2485	6.0586	0.19824	0.0:0.1544:0.2928:0.5527	.	.	.	.	Q	240	.	.	K	-	1	0	TCP11	35194042	0.000000	0.05858	0.064000	0.19789	0.809000	0.45718	-1.209000	0.03002	-0.281000	0.09141	0.460000	0.39030	AAA		0.498	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		G	35086064	T	G	35086064	2	3	301	1	0	0	0	0	0	0	0	1	15718	1799	63	5		5	TCP11	6	35086064	Silent	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	4405051	35086064	136029003	40	17933											
KLC4	89953	hgsc.bcm.edu	37	6	43041642	43041643	+	Frame_Shift_Ins	INS	-	-	CAACACGA			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:43041642_43041643insCAACACGA	ENST00000394056.2	+	16	2243_2244	c.1748_1749insCAACACGA	c.(1747-1752)agcaacfs	p.-584fs	PTK7_ENST00000230419.4_5'Flank|KLC4_ENST00000453940.2_Frame_Shift_Ins_p.-507fs|KLC4_ENST00000479388.1_Frame_Shift_Ins_p.-584fs|PTK7_ENST00000349241.2_5'Flank|RP11-387M24.5_ENST00000606123.1_RNA|PTK7_ENST00000352931.2_5'Flank|KLC4_ENST00000347162.5_Frame_Shift_Ins_p.-584fs|PTK7_ENST00000481273.1_5'Flank|KLC4_ENST00000394058.1_Frame_Shift_Ins_p.-584fs|PTK7_ENST00000345201.2_5'Flank|PTK7_ENST00000471863.1_5'Flank|PTK7_ENST00000476760.1_5'Flank|KLC4_ENST00000259708.3_Frame_Shift_Ins_p.-602fs			Q9NSK0	KLC4_HUMAN	kinesin light chain 4							cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CATTGTAGCAGCAACATGAAGC	0.54																																																0																																										SO:0001589	frameshift_variant	89953			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	Exception_encountered	chr6.hg19:g.43041642_43041643insCAACACGA	ENSP00000377620:p.Asn584fs		B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Frame_Shift_Ins	INS	ENST00000394056.2	hg19	CCDS4883.1																																																																																				0.54	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		CAACACGA	43041643	-	CAACACGA	43041642	7	5	301	1	0	1	1	0	0	0	0	0	8338	971	34	0	1929	0	KLC4	6	43041642	Frame_Shift_Ins	INS	-	TCGA-B9-A44B-01A-11D-A25F-10	7955578	43041642	128073425	41	17934	140	2									
KLC4	89953	hgsc.bcm.edu	37	6	43041648	43041648	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:43041648T>C	ENST00000394056.2	+	16	2249	c.1754T>C	c.(1753-1755)aTg>aCg	p.M585T	PTK7_ENST00000230419.4_5'Flank|KLC4_ENST00000453940.2_Missense_Mutation_p.M508T|KLC4_ENST00000479388.1_Missense_Mutation_p.M585T|PTK7_ENST00000349241.2_5'Flank|RP11-387M24.5_ENST00000606123.1_RNA|PTK7_ENST00000352931.2_5'Flank|KLC4_ENST00000347162.5_Missense_Mutation_p.M585T|PTK7_ENST00000481273.1_5'Flank|KLC4_ENST00000394058.1_Missense_Mutation_p.M585T|PTK7_ENST00000345201.2_5'Flank|PTK7_ENST00000471863.1_5'Flank|PTK7_ENST00000476760.1_5'Flank|KLC4_ENST00000259708.3_Missense_Mutation_p.M603T			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	585						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGCAGCAACATGAAGCGAGCA	0.537																																																0													138	119	125					6																	43041648		2203	4300	6503	SO:0001583	missense	89953			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1754T>C	chr6.hg19:g.43041648T>C	ENSP00000377620:p.Met585Thr		B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	hg19	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745697	0.49151	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	D;D;D;D;D;D	0.85088	-1.86;-1.94;-1.87;-1.86;-1.86;-1.86	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	D	0.85141	0.5629	M	0.73217	2.22	0.53688	D	0.999979	P;D;P	0.53462	0.791;0.96;0.717	B;P;P	0.61397	0.212;0.888;0.599	D	0.83770	0.0219	10	0.11794	T	0.64	-11.1696	11.8821	0.52581	0.0:0.0:0.0:1.0	.	508;603;585	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	T	585;508;603;585;585;585	ENSP00000340221:M585T;ENSP00000395806:M508T;ENSP00000259708:M603T;ENSP00000418031:M585T;ENSP00000377620:M585T;ENSP00000377622:M585T	ENSP00000259708:M603T	M	+	2	0	KLC4	43149626	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.911000	0.69939	2.054000	0.61138	0.459000	0.35465	ATG		0.537	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		C	43041648	T	C	43041648	3	2	301	1	0	0	0	0	1	0	0	0	8338	1464	51	3	1935	3	KLC4	6	43041648	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	6	43041648	128073419	42	17935	140	2									
YIPF3	25844	hgsc.bcm.edu	37	6	43480515	43480515	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:43480515A>G	ENST00000372422.2	-	7	946	c.764T>C	c.(763-765)cTg>cCg	p.L255P	YIPF3_ENST00000506469.1_Missense_Mutation_p.L261P|LRRC73_ENST00000372441.1_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	255					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CAGTGTGGACAGTCCACCCAC	0.567																																																0													89	76	81					6																	43480515		2203	4300	6503	SO:0001583	missense	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"Yip1 domain family"	21023	protein-coding gene	gene with protein product		609775	"chromosome 6 open reading frame 109"	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.764T>C	chr6.hg19:g.43480515A>G	ENSP00000361499:p.Leu255Pro		Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	hg19	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.404720	0.62288	.	.	ENSG00000137207	ENST00000372422;ENST00000506469;ENST00000503972	T;T;T	0.53857	0.61;0.6;0.71	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.58680	0.2139	L	0.49126	1.545	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.997;0.998	T	0.59653	-0.7414	10	0.41790	T	0.15	-11.2654	15.19	0.73035	1.0:0.0:0.0:0.0	.	261;220;255	E7EQR8;Q5JTD5;Q9GZM5	.;.;YIPF3_HUMAN	P	255;261;221	ENSP00000361499:L255P;ENSP00000425494:L261P;ENSP00000421461:L221P	ENSP00000361499:L255P	L	-	2	0	YIPF3	43588493	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.982000	0.93471	1.996000	0.58369	0.460000	0.39030	CTG		0.567	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		G	43480515	A	G	43480515	3	3	301	1	0	0	0	0	1	0	0	0	17484	188	7	3	300	3	YIPF3	6	43480515	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	438867	43480515	127634552	43	17936											
SNAP91	9892	hgsc.bcm.edu	37	6	84371294	84371294	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:84371294A>T	ENST00000439399.2	-	5	695	c.379T>A	c.(379-381)Tat>Aat	p.Y127N	SNAP91_ENST00000195649.6_Missense_Mutation_p.Y127N|SNAP91_ENST00000520302.1_Missense_Mutation_p.Y127N|SNAP91_ENST00000369694.2_Missense_Mutation_p.Y127N|SNAP91_ENST00000521485.1_Missense_Mutation_p.Y127N|SNAP91_ENST00000428679.2_Missense_Mutation_p.Y127N|SNAP91_ENST00000437520.1_Missense_Mutation_p.Y127N|SNAP91_ENST00000521743.1_Missense_Mutation_p.Y127N|SNAP91_ENST00000520213.1_Missense_Mutation_p.Y127N	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	127	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TATCTACTATAGCGCCTTATG	0.328																																																0													56	54	54					6																	84371294		1805	4074	5879	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.379T>A	chr6.hg19:g.84371294A>T	ENSP00000400459:p.Tyr127Asn		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	hg19	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551977	0.86127	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690	T;T;T;T;T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.13	5.13	0.70059	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	H	0.96547	3.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.996;0.999	D	0.91513	0.5228	10	0.87932	D	0	-8.3087	15.2297	0.73378	1.0:0.0:0.0:0.0	.	127;127;127;127	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	N	127	ENSP00000429776:Y127N;ENSP00000358708:Y127N;ENSP00000400459:Y127N;ENSP00000195649:Y127N;ENSP00000412492:Y127N;ENSP00000413277:Y127N;ENSP00000428511:Y127N;ENSP00000428215:Y127N;ENSP00000428026:Y127N;ENSP00000430071:Y127N;ENSP00000429429:Y127N;ENSP00000430441:Y127N;ENSP00000358704:Y127N	ENSP00000195649:Y127N	Y	-	1	0	SNAP91	84428013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.210000	0.95106	2.056000	0.61249	0.460000	0.39030	TAT		0.328	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			T	84371294	A	T	84371294	3	4	301	1	0	0	0	0	1	0	0	0	14839	420	15	5	2440	5	SNAP91	6	84371294	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	40890779	84371294	86743773	44	17937											
SPACA1	81833	hgsc.bcm.edu	37	6	88775941	88775941	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:88775941C>A	ENST00000237201.1	+	7	890	c.773C>A	c.(772-774)cCt>cAt	p.P258H	SPACA1_ENST00000462690.1_3'UTR	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	258					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		GCCTCTACACCTGAGGTACAA	0.413																																																0													100	109	106					6																	88775941		2203	4300	6503	SO:0001583	missense	81833			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.773C>A	chr6.hg19:g.88775941C>A	ENSP00000237201:p.Pro258His			Missense_Mutation	SNP	ENST00000237201.1	hg19	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734402	0.30774	.	.	ENSG00000118434	ENST00000237201	T	0.30448	1.53	4.81	4.81	0.61882	.	0.410909	0.23356	N	0.049061	T	0.16171	0.0389	N	0.22421	0.69	0.09310	N	0.999999	P	0.49447	0.924	P	0.47941	0.562	T	0.03545	-1.1026	10	0.66056	D	0.02	-5.1836	13.254	0.60068	0.0:1.0:0.0:0.0	.	258	Q9HBV2	SACA1_HUMAN	H	258	ENSP00000237201:P258H	ENSP00000237201:P258H	P	+	2	0	SPACA1	88832660	0.530000	0.26330	0.533000	0.28001	0.013000	0.08279	1.999000	0.40806	2.507000	0.84556	0.467000	0.42956	CCT		0.413	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			A	88775941	C	A	88775941	3	1	301	1	0	0	0	0	1	0	0	0	14978	681	24	4	799	4	SPACA1	6	88775941	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	4404647	88775941	82339126	45	17938											
HACE1	57531	hgsc.bcm.edu	37	6	105298839	105298839	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:105298839A>T	ENST00000262903.4	-	3	440	c.164T>A	c.(163-165)tTt>tAt	p.F55Y	HACE1_ENST00000369125.2_Missense_Mutation_p.F55Y	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	55					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATTGACATCAAATTTTGAATT	0.299																																																0													152	157	156					6																	105298839		2203	4300	6503	SO:0001583	missense	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.164T>A	chr6.hg19:g.105298839A>T	ENSP00000262903:p.Phe55Tyr		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	hg19	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.488630	0.84854	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645;ENST00000524020	T;T;T;T	0.72282	-0.64;-0.64;-0.09;1.51	5.97	5.97	0.96955	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	N	0.21545	0.675	0.80722	D	1	D;D	0.53885	0.963;0.963	D;D	0.69824	0.966;0.966	T	0.73538	-0.3951	10	0.51188	T	0.08	.	15.4434	0.75208	1.0:0.0:0.0:0.0	.	55;55	E9PGP0;Q8IYU2	.;HACE1_HUMAN	Y	55;55;55;21	ENSP00000262903:F55Y;ENSP00000358121:F55Y;ENSP00000429765:F55Y;ENSP00000427901:F21Y	ENSP00000262903:F55Y	F	-	2	0	HACE1	105405532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.328000	0.90014	2.288000	0.76882	0.533000	0.62120	TTT		0.299	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		T	105298839	A	T	105298839	3	4	301	1	0	0	0	0	1	0	0	0	6942	14	1	5	2653	5	HACE1	6	105298839	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	16522898	105298839	65816228	46	17939											
SOBP	55084	hgsc.bcm.edu	37	6	107827527	107827527	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:107827527C>A	ENST00000317357.5	+	3	976	c.317C>A	c.(316-318)gCc>gAc	p.A106D		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCAGGGCTTGCCACTGGAAAT	0.413																																																0													193	185	188					6																	107827527		1908	4136	6044	SO:0001583	missense	55084			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.317C>A	chr6.hg19:g.107827527C>A	ENSP00000318900:p.Ala106Asp			Missense_Mutation	SNP	ENST00000317357.5	hg19	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145200	0.77888	.	.	ENSG00000112320	ENST00000317357	T	0.11277	2.79	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.07413	0.0187	N	0.08118	0	0.58432	D	0.999996	D	0.53312	0.959	P	0.52957	0.714	T	0.40720	-0.9548	10	0.66056	D	0.02	-11.9919	19.1981	0.93698	0.0:1.0:0.0:0.0	.	106	A7XYQ1	SOBP_HUMAN	D	106	ENSP00000318900:A106D	ENSP00000318900:A106D	A	+	2	0	SOBP	107934220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.422000	0.66453	2.615000	0.88500	0.655000	0.94253	GCC		0.413	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		A	107827527	C	A	107827527	3	1	301	1	0	0	0	0	1	0	0	0	14918	739	26	4	327	4	SOBP	6	107827527	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	2528688	107827527	63287540	47	17940											
NUS1	116150	hgsc.bcm.edu	37	6	118015319	118015319	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:118015319G>A	ENST00000368494.3	+	3	836	c.667G>A	c.(667-669)Gta>Ata	p.V223I		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	223					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AGATTTGGATGTAGATACGTT	0.373																																																0													89	91	90					6																	118015319		2203	4300	6503	SO:0001583	missense	116150			BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"Nogo-B receptor", "transport and golgi organization 14 homolog (Drosophila)"	610463	"chromosome 6 open reading frame 68"	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.667G>A	chr6.hg19:g.118015319G>A	ENSP00000357480:p.Val223Ile		B2RWQ4|O00251	Missense_Mutation	SNP	ENST00000368494.3	hg19	CCDS5118.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550972	0.45383	.	.	ENSG00000153989	ENST00000368494	T	0.29397	1.57	5.1	5.1	0.69264	.	0.115570	0.64402	D	0.000015	T	0.16128	0.0388	L	0.47078	1.49	0.58432	D	0.999992	P	0.36086	0.536	B	0.34873	0.191	T	0.02713	-1.1120	10	0.37606	T	0.19	-0.3662	13.2505	0.60050	0.0769:0.0:0.9231:0.0	.	223	Q96E22	NGBR_HUMAN	I	223	ENSP00000357480:V223I	ENSP00000357480:V223I	V	+	1	0	NUS1	118122012	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.487000	0.60293	2.537000	0.85549	0.650000	0.86243	GTA		0.373	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1	NM_138459		A	118015319	G	A	118015319	3	1	301	1	0	0	0	0	1	0	0	0	10779	1377	48	2	677	2	NUS1	6	118015319	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	10187792	118015319	53099748	48	17941											
GPR126	57211	hgsc.bcm.edu	37	6	142691578	142691578	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:142691578C>T	ENST00000230173.6	+	4	1193	c.717C>T	c.(715-717)gtC>gtT	p.V239V	GPR126_ENST00000367609.3_Silent_p.V239V|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Silent_p.V239V|GPR126_ENST00000296932.8_Silent_p.V239V	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	239	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CATTACCTGTCAAAGAAAAAG	0.353																																																0													64	63	63					6																	142691578		1828	4081	5909	SO:0001819	synonymous_variant	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.717C>T	chr6.hg19:g.142691578C>T			Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	ENST00000230173.6	hg19	CCDS47490.1																																																																																				0.353	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			T	142691578	C	T	142691578	2	4	301	1	0	0	0	0	0	0	0	1	6642	813	29	2		2	GPR126	6	142691578	Silent	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	24676259	142691578	28423489	49	17942											
IGF2R	3482	hgsc.bcm.edu	37	6	160445676	160445676	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr6:160445676T>C	ENST00000356956.1	+	5	734	c.586T>C	c.(586-588)Tac>Cac	p.Y196H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	196					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TAGTGGTGCCTACTTGGTGGA	0.473																																																0													277	241	253					6																	160445676		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.586T>C	chr6.hg19:g.160445676T>C	ENSP00000349437:p.Tyr196His		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.109386	0.56398	.	.	ENSG00000197081	ENST00000356956	T	0.02682	4.2	5.47	5.47	0.80525	Mannose-6-phosphate receptor, binding (1);	0.232876	0.45361	D	0.000378	T	0.08891	0.0220	M	0.77103	2.36	0.39897	D	0.97384	D	0.89917	1.0	D	0.91635	0.999	T	0.21109	-1.0255	10	0.30854	T	0.27	-3.4455	15.5981	0.76602	0.0:0.0:0.0:1.0	.	196	P11717	MPRI_HUMAN	H	196	ENSP00000349437:Y196H	ENSP00000349437:Y196H	Y	+	1	0	IGF2R	160365666	1.000000	0.71417	0.672000	0.29872	0.761000	0.43186	4.495000	0.60353	2.077000	0.62373	0.374000	0.22700	TAC		0.473	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		C	160445676	T	C	160445676	3	2	301	1	0	0	0	0	1	0	0	0	7578	1522	53	3	604	3	IGF2R	6	160445676	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	17754098	160445676	10669391	50	17943											
NEUROD6	63974	hgsc.bcm.edu	37	7	31378439	31378439	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:31378439T>A	ENST00000297142.3	-	2	766	c.444A>T	c.(442-444)gaA>gaT	p.E148D		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	148					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TTCTCAGAATTTCAGAAAGTG	0.438																																																0													70	72	71					7																	31378439		2203	4300	6503	SO:0001583	missense	63974			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.444A>T	chr7.hg19:g.31378439T>A	ENSP00000297142:p.Glu148Asp		Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	hg19	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.594250	0.46214	.	.	ENSG00000164600	ENST00000297142	D	0.88509	-2.39	5.25	2.52	0.30459	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	D	0.85383	0.5684	N	0.05467	-0.045	0.53005	D	0.999961	D	0.58970	0.984	D	0.65443	0.935	D	0.83701	0.0182	10	0.39692	T	0.17	-17.2321	10.2375	0.43292	0.0:0.1596:0.0:0.8404	.	148	Q96NK8	NDF6_HUMAN	D	148	ENSP00000297142:E148D	ENSP00000297142:E148D	E	-	3	2	NEUROD6	31344964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.915000	0.39976	0.841000	0.35020	0.528000	0.53228	GAA		0.438	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		A	31378439	T	A	31378439	3	1	301	1	0	0	0	0	1	0	0	0	10353	1838	64	5	573	5	NEUROD6	7	31378439	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10		31378439	127760224	51	17944											
CCDC129	223075	hgsc.bcm.edu	37	7	31682718	31682718	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:31682718C>A	ENST00000407970.3	+	11	1772	c.1734C>A	c.(1732-1734)gaC>gaA	p.D578E	CCDC129_ENST00000451887.2_Missense_Mutation_p.D604E|CCDC129_ENST00000319386.3_Missense_Mutation_p.D430E|CCDC129_ENST00000409210.1_Missense_Mutation_p.D486E	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	578										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAATGCAGGACAGTTTTGTGA	0.488																																																0													173	173	173					7																	31682718		2203	4300	6503	SO:0001583	missense	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1734C>A	chr7.hg19:g.31682718C>A	ENSP00000384416:p.Asp578Glu		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	hg19	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456804	0.43634	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.25414	1.8;2.12;2.1;1.86	5.93	-11.6	0.00059	.	0.467692	0.20346	N	0.094142	T	0.15219	0.0367	M	0.69823	2.125	0.09310	N	1	P;P;P;P	0.41450	0.75;0.565;0.565;0.734	B;B;B;B	0.39503	0.168;0.107;0.107;0.301	T	0.00216	-1.1910	10	0.38643	T	0.18	-37.2348	1.7051	0.02880	0.2799:0.2778:0.079:0.3633	.	604;588;578;430	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	E	430;578;604;588;486	ENSP00000313062:D430E;ENSP00000384416:D578E;ENSP00000395835:D604E;ENSP00000387214:D486E	ENSP00000313062:D430E	D	+	3	2	CCDC129	31649243	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.334000	0.02665	-2.216000	0.00732	-1.094000	0.02160	GAC		0.488	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		A	31682718	C	A	31682718	3	1	301	1	0	0	0	0	1	0	0	0	2766	477	17	4	1772	4	CCDC129	7	31682718	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	304279	31682718	127455945	52	17945											
HERPUD2	64224	hgsc.bcm.edu	37	7	35733937	35733937	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:35733937C>T	ENST00000396081.1	-	1	808	c.4G>A	c.(4-6)Gac>Aac	p.D2N	HERPUD2_ENST00000311350.3_Missense_Mutation_p.D2N|RP11-379H18.1_ENST00000605778.1_RNA	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	2					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CCACTTTGGTCCATGGTGCCC	0.537																																																0													106	108	107					7																	35733937		2203	4300	6503	SO:0001583	missense	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.4G>A	chr7.hg19:g.35733937C>T	ENSP00000379390:p.Asp2Asn		A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	hg19	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779789	0.90195	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517;ENST00000427455	T;T;T;T;T	0.57436	1.52;1.52;1.21;1.55;0.4	3.53	3.53	0.40419	.	0.275735	0.39985	N	0.001216	T	0.57504	0.2058	L	0.50333	1.59	0.38724	D	0.953506	D	0.59767	0.986	P	0.55615	0.78	T	0.64275	-0.6446	10	0.72032	D	0.01	-3.5396	10.7536	0.46223	0.1906:0.8094:0.0:0.0	.	2	Q9BSE4	HERP2_HUMAN	N	2	ENSP00000379390:D2N;ENSP00000310729:D2N;ENSP00000415475:D2N;ENSP00000391015:D2N;ENSP00000412895:D2N	ENSP00000310729:D2N	D	-	1	0	HERPUD2	35700462	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.641000	0.74324	2.253000	0.74438	0.467000	0.42956	GAC		0.537	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		T	35733937	C	T	35733937	3	4	301	1	0	0	0	0	1	0	0	0	7066	855	30	2	1248	2	HERPUD2	7	35733937	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	4051219	35733937	123404726	53	17946											
PKD1L1	168507	hgsc.bcm.edu	37	7	47853600	47853600	+	Missense_Mutation	SNP	C	C	T	rs147316882		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:47853600C>T	ENST00000289672.2	-	48	7152	c.7102G>A	c.(7102-7104)Gga>Aga	p.G2368R	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2368					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATTTTCCTCCAAGAGCTCCA	0.458																																																0								C	,ARG/GLY	0,4406		0,0,2203	73	68	70		,7102	3.5	0.6	7	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	C7orf69,PKD1L1	NM_025031.2,NM_138295.3	,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,2368/2850	47853600	1,13005	2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7102G>A	chr7.hg19:g.47853600C>T	ENSP00000289672:p.Gly2368Arg		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772575	0.49680	0.0	1.16E-4	ENSG00000158683	ENST00000289672	T	0.19250	2.16	5.3	3.48	0.39840	.	0.260784	0.26903	N	0.021910	T	0.35393	0.0930	L	0.60455	1.87	0.80722	D	1	D	0.65815	0.995	P	0.62435	0.902	T	0.02813	-1.1107	10	0.49607	T	0.09	-7.9894	9.0941	0.36629	0.0:0.7697:0.148:0.0823	.	2368	Q8TDX9	PK1L1_HUMAN	R	2368	ENSP00000289672:G2368R	ENSP00000289672:G2368R	G	-	1	0	PKD1L1	47820125	0.492000	0.26027	0.605000	0.28930	0.632000	0.37999	1.534000	0.36051	0.604000	0.29930	-0.172000	0.13284	GGA		0.458	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		T	47853600	C	T	47853600	3	4	301	1	0	0	0	0	1	0	0	0	11966	603	21	2	1487	2	PKD1L1	7	47853600	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	12119663	47853600	111285063	54	17947											
VWC2	375567	hgsc.bcm.edu	37	7	49815193	49815193	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:49815193C>T	ENST00000340652.4	+	2	718	c.162C>T	c.(160-162)gaC>gaT	p.D54D		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	54					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CCTCTCGGGACGGCCCGGGGC	0.741																																																0													6	6	6					7																	49815193		2074	4046	6120	SO:0001819	synonymous_variant	375567			AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"brorin", "brain-specific chordin-like"	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.162C>T	chr7.hg19:g.49815193C>T			Q6UXE2	Silent	SNP	ENST00000340652.4	hg19	CCDS5508.1																																																																																				0.741	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		T	49815193	C	T	49815193	2	4	301	1	0	0	0	0	0	0	0	1	17248	535	19	1		1	VWC2	7	49815193	Silent	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	1961593	49815193	109323470	55	17948											
POMZP3	22932	hgsc.bcm.edu	37	7	76240801	76240801	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:76240801G>T	ENST00000310842.4	-	6	1229	c.545C>A	c.(544-546)tCc>tAc	p.S182Y	UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Intron|UPK3B_ENST00000443097.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	182										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGCAGACGTGGACCACTGGCT	0.537																																																0													72	71	72					7																	76240801		2200	4279	6479	SO:0001583	missense	22932			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"POM-ZP3 fusion protein", "POM121/ZP3 fusion protein"	600587	"POM (POM121 rat homolog) and ZP3 fusion", "POM (POM121 homolog, rat) and ZP3 fusion"			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.545C>A	chr7.hg19:g.76240801G>T	ENSP00000309233:p.Ser182Tyr		F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	hg19	CCDS43606.1	.	.	.	.	.	.	.	.	.	.	N	8.381	0.837429	0.16891	.	.	ENSG00000146707	ENST00000310842	T	0.23950	1.88	0.786	-1.57	0.08506	.	3.392970	0.01303	U	0.010346	T	0.28134	0.0694	L	0.38175	1.15	0.09310	N	1	D	0.57257	0.979	P	0.50970	0.655	T	0.18241	-1.0343	10	0.87932	D	0	.	3.7228	0.08463	0.0:0.0:0.477:0.523	.	182	Q6PJE2	POZP3_HUMAN	Y	182	ENSP00000309233:S182Y	ENSP00000309233:S182Y	S	-	2	0	POMZP3	76078737	0.000000	0.05858	0.089000	0.20774	0.299000	0.27559	-0.671000	0.05250	-0.344000	0.08338	0.372000	0.22366	TCC		0.537	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		T	76240801	G	T	76240801	3	4	301	1	0	0	0	0	1	0	0	0	12249	1174	41	4	29	4	POMZP3	7	76240801	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	26425608	76240801	82897862	56	17949											
PCLO	27445	hgsc.bcm.edu	37	7	82579041	82579041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:82579041delT	ENST00000333891.9	-	6	11200	c.10863delA	c.(10861-10863)aaafs	p.K3621fs	PCLO_ENST00000437081.1_Frame_Shift_Del_p.K341fs|PCLO_ENST00000423517.2_Frame_Shift_Del_p.K3621fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTAAAGGACTTTGGGGGATT	0.478																																																0													106	107	106					7																	82579041		2005	4186	6191	SO:0001589	frameshift_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10863delA	chr7.hg19:g.82579041delT	ENSP00000334319:p.Lys3621fs			Frame_Shift_Del	DEL	ENST00000333891.9	hg19	CCDS47630.1																																																																																				0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		-	82579041	T	-	82579041	7	5	301	1	0	1	0	1	0	0	0	0	11585	1606	56	0	4662	0	PCLO	7	82579041	Frame_Shift_Del	DEL	T	TCGA-B9-A44B-01A-11D-A25F-10	6338240	82579041	76559622	57	17950											
PCLO	27445	hgsc.bcm.edu	37	7	82585266	82585266	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:82585266T>C	ENST00000333891.9	-	5	5340	c.5003A>G	c.(5002-5004)aAa>aGa	p.K1668R	PCLO_ENST00000423517.2_Missense_Mutation_p.K1668R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCAATTGTTTTAAATCGGCG	0.368																																																0													107	99	102					7																	82585266		1859	4098	5957	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5003A>G	chr7.hg19:g.82585266T>C	ENSP00000334319:p.Lys1668Arg			Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	7.727	0.698443	0.15106	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.26810	1.71;1.73	5.31	5.31	0.75309	.	.	.	.	.	T	0.35068	0.0919	M	0.74881	2.28	0.80722	D	1	P;P	0.45715	0.865;0.865	B;B	0.42555	0.391;0.391	T	0.36359	-0.9751	9	0.87932	D	0	.	15.2616	0.73628	0.0:0.0:0.0:1.0	.	1668;1668	Q9Y6V0-5;Q9Y6V0-6	.;.	R	1599;1668;1668	ENSP00000334319:K1668R;ENSP00000388393:K1668R	ENSP00000334319:K1668R	K	-	2	0	PCLO	82423202	1.000000	0.71417	0.847000	0.33407	0.907000	0.53573	5.048000	0.64238	2.005000	0.58758	0.528000	0.53228	AAA		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82585266	T	C	82585266	3	2	301	1	0	0	0	0	1	0	0	0	11585	1841	64	3	10526	3	PCLO	7	82585266	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	6225	82585266	76553397	58	17951											
PRKAR2B	5577	hgsc.bcm.edu	37	7	106799967	106799967	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:106799967T>A	ENST00000265717.4	+	11	1456	c.1197T>A	c.(1195-1197)taT>taA	p.Y399*		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	399					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TCGCTACCTATGAAGAACAGT	0.388																																																0													135	118	124					7																	106799967		2203	4300	6503	SO:0001587	stop_gained	5577				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.1197T>A	chr7.hg19:g.106799967T>A	ENSP00000265717:p.Tyr399*		A4D0R9	Nonsense_Mutation	SNP	ENST00000265717.4	hg19	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821472	0.71028	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	.	.	.	5.68	2.05	0.26809	.	0.110083	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.3785	9.0728	0.36502	0.0:0.277:0.0:0.723	.	.	.	.	X	399;399;386	.	ENSP00000265717:Y399X	Y	+	3	2	PRKAR2B	106587203	0.950000	0.32346	1.000000	0.80357	0.997000	0.91878	0.030000	0.13688	0.113000	0.18004	0.528000	0.53228	TAT		0.388	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			A	106799967	T	A	106799967	4	1	301	1	0	0	0	0	0	1	0	0	12511	1471	51	5	1239	5	PRKAR2B	7	106799967	Nonsense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	24214701	106799967	52338696	59	17952											
ADCK2	90956	hgsc.bcm.edu	37	7	140380887	140380887	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:140380887G>T	ENST00000072869.4	+	4	1433	c.1255G>T	c.(1255-1257)Gac>Tac	p.D419Y	ADCK2_ENST00000476491.1_Missense_Mutation_p.D419Y	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	419	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AATTCCCGTGGACTTGAAAAG	0.562																																																0													137	114	122					7																	140380887		2203	4300	6503	SO:0001583	missense	90956			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1255G>T	chr7.hg19:g.140380887G>T	ENSP00000072869:p.Asp419Tyr		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	hg19	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.78|14.78	2.638582|2.638582	0.47153|0.47153	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491;ENST00000473512|ENST00000483369	T;T;T|.	0.12039|.	2.72;2.72;2.72|.	4.18|4.18	3.2|3.2	0.36748|0.36748	.|.	0.234009|.	0.34245|.	N|.	0.004140|.	T|T	0.55609|0.55609	0.1931|0.1931	M|M	0.70595|0.70595	2.14|2.14	0.19945|0.19945	N|N	0.999942|0.999942	D;D|.	0.54397|.	0.966;0.966|.	P;P|.	0.46718|.	0.525;0.525|.	T|T	0.46735|0.46735	-0.9170|-0.9170	10|5	0.66056|.	D|.	0.02|.	-50.6212|-50.6212	10.5732|10.5732	0.45212|0.45212	0.1074:0.0:0.8926:0.0|0.1074:0.0:0.8926:0.0	.|.	419;419|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	Y|V	419;419;59|256	ENSP00000072869:D419Y;ENSP00000420512:D419Y;ENSP00000420288:D59Y|.	ENSP00000072869:D419Y|.	D|G	+|+	1|2	0|0	ADCK2|ADCK2	140027356|140027356	0.982000|0.982000	0.34865|0.34865	0.077000|0.077000	0.20336|0.20336	0.837000|0.837000	0.47467|0.47467	4.292000|4.292000	0.59031|0.59031	2.154000|2.154000	0.67381|0.67381	0.561000|0.561000	0.74099|0.74099	GAC|GGA		0.562	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		T	140380887	G	T	140380887	3	4	301	1	0	0	0	0	1	0	0	0	289	1174	41	4	1269	4	ADCK2	7	140380887	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	33580920	140380887	18757776	60	17953											
RBM33	155435	hgsc.bcm.edu	37	7	155534581	155534582	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr7:155534581_155534582insA	ENST00000401878.3	+	13	2316_2317	c.2118_2119insA	c.(2119-2121)aatfs	p.N707fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	707							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CAAGGAACAGCAATTTGCGTGA	0.49																																																0																																										SO:0001589	frameshift_variant	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2120dupA	chr7.hg19:g.155534583_155534583dupA	ENSP00000384160:p.Asn707fs		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Ins	INS	ENST00000401878.3	hg19	CCDS5941.2																																																																																				0.49	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		A	155534582	-	A	155534581	7	5	301	1	0	1	1	0	0	0	0	0	13136	709	25	0	2168	0	RBM33	7	155534581	Frame_Shift_Ins	INS	-	TCGA-B9-A44B-01A-11D-A25F-10	15153694	155534581	3604082	61	17954											
FUT10	84750	hgsc.bcm.edu	37	8	33246682	33246683	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr8:33246682_33246683insA	ENST00000327671.5	-	4	1641_1642	c.1010_1011insT	c.(1009-1011)atcfs	p.I337fs	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Frame_Shift_Ins_p.I309fs|FUT10_ENST00000335589.3_Frame_Shift_Ins_p.I275fs|FUT10_ENST00000518672.1_Frame_Shift_Ins_p.I309fs	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	337					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CCAGTCGTCTGATGTAACTTGC	0.46																																																0																																										SO:0001589	frameshift_variant	84750			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.1011dupT	chr8.hg19:g.33246683_33246683dupA	ENSP00000332757:p.Ile337fs		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Frame_Shift_Ins	INS	ENST00000327671.5	hg19	CCDS6088.1																																																																																				0.46	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		A	33246683	-	A	33246682	7	5	301	1	0	1	1	0	0	0	0	0	6104	1280	45	0	436	0	FUT10	8	33246682	Frame_Shift_Ins	INS	-	TCGA-B9-A44B-01A-11D-A25F-10		33246682	113117340	62	17955											
RNF19A	25897	hgsc.bcm.edu	37	8	101276971	101276971	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr8:101276971G>A	ENST00000519449.1	-	7	1550	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	RNF19A_ENST00000341084.2_Missense_Mutation_p.R412W|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	412					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R412W(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCCAAATTCCGTTTGTGCTTT	0.373																																																1	Substitution - Missense(1)	endometrium(1)											239	211	220					8																	101276971		2203	4300	6503	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1234C>T	chr8.hg19:g.101276971G>A	ENSP00000428968:p.Arg412Trp		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	hg19	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012643	0.75161	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.86297	-2.1;-2.1	5.17	4.28	0.50868	.	0.053565	0.64402	D	0.000002	D	0.92704	0.7681	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93259	0.6641	10	0.87932	D	0	.	12.7055	0.57058	0.0:0.0:0.5807:0.4193	.	412	Q9NV58	RN19A_HUMAN	W	412	ENSP00000428968:R412W;ENSP00000342667:R412W	ENSP00000342667:R412W	R	-	1	2	RNF19A	101346147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.083000	0.41615	1.305000	0.44909	0.650000	0.86243	CGG		0.373	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		A	101276971	G	A	101276971	3	1	301	1	0	0	0	0	1	0	0	0	13476	1144	40	1	1302	1	RNF19A	8	101276971	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	68030289	101276971	45087051	63	17956											
RSPO2	340419	hgsc.bcm.edu	37	8	108970372	108970372	+	Silent	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr8:108970372T>C	ENST00000276659.5	-	5	1172	c.552A>G	c.(550-552)acA>acG	p.T184T	RSPO2_ENST00000517781.1_Silent_p.T120T|RSPO2_ENST00000517939.1_Silent_p.T117T|RSPO2_ENST00000378439.2_Silent_p.T120T	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	184	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GACACAGTATTGTGTCTTTCA	0.443																																																0													328	281	297					8																	108970372		2203	4300	6503	SO:0001819	synonymous_variant	340419			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.552A>G	chr8.hg19:g.108970372T>C			B3KVP0|Q4G0U4|Q8N6X6	Silent	SNP	ENST00000276659.5	hg19	CCDS6307.1																																																																																				0.443	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		C	108970372	T	C	108970372	2	2	301	1	0	0	0	0	0	0	0	1	13716	1799	63	3		3	RSPO2	8	108970372	Silent	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	7693401	108970372	37393650	64	17957											
EEF1D	1936	hgsc.bcm.edu	37	8	144661995	144661995	+	Missense_Mutation	SNP	C	C	G	rs11548159		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr8:144661995C>G	ENST00000529272.1	-	8	1213	c.813G>C	c.(811-813)caG>caC	p.Q271H	NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000442189.2_Missense_Mutation_p.Q637H|EEF1D_ENST00000395119.3_Missense_Mutation_p.Q271H|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000524624.1_Missense_Mutation_p.Q247H|EEF1D_ENST00000423316.2_Missense_Mutation_p.Q637H|EEF1D_ENST00000317198.6_Missense_Mutation_p.Q271H|NAPRT1_ENST00000276844.7_5'Flank|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000532400.1_Missense_Mutation_p.R87T|EEF1D_ENST00000531621.1_Missense_Mutation_p.Q228H|EEF1D_ENST00000526838.1_Missense_Mutation_p.Q252H|NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000532741.1_Missense_Mutation_p.Q687H|EEF1D_ENST00000419152.2_Missense_Mutation_p.Q271H|EEF1D_ENST00000528610.1_Missense_Mutation_p.Q247H|RP11-661A12.9_ENST00000531730.1_RNA			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	271	Catalytic (GEF).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TATCGACACTCTGCACCTGAG	0.612																																																0													116	108	111					8																	144661995		2203	4300	6503	SO:0001583	missense	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.813G>C	chr8.hg19:g.144661995C>G	ENSP00000434872:p.Gln271His		B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	hg19	CCDS6405.1	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|C|C|C	16.30|16.30|16.30|16.30	3.083562|3.083562|3.083562|3.083562	0.55861|0.55861|0.55861|0.55861	.|.|.|.	.|.|.|.	ENSG00000104529|ENSG00000104529|ENSG00000104529|ENSG00000104529	ENST00000529576|ENST00000530109|ENST00000419152;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000531621;ENST00000524624|ENST00000532400	.|.|.|.	.|.|.|.	.|.|.|.	4.94|4.94|4.94|4.94	2.14|2.14|2.14|2.14	0.27477|0.27477|0.27477|0.27477	.|.|Translation elongation factor EF1B/ribosomal protein S6 (1);Translation elongation factor EF1B, beta/delta chains, conserved site (1);Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange (3);|.	.|.|0.121518|.	.|.|0.64402|.	.|.|D|.	.|.|0.000014|.	.|D|D|D	.|0.87525|0.87525|0.87525	.|0.6199|0.6199|0.6199	H|H|H|H	0.99182|0.99182|0.99182|0.99182	4.46|4.46|4.46|4.46	0.58432|0.58432|0.58432|0.58432	D|D|D|D	0.999996|0.999996|0.999996|0.999996	.|.|D;D;D;D;D;D|.	.|.|0.89917|.	.|.|1.0;0.999;1.0;0.999;1.0;1.0|.	.|.|D;D;D;D;D;D|.	.|.|0.97110|.	.|.|0.998;0.998;0.999;0.99;1.0;0.996|.	.|D|D|D	.|0.87780|0.87780|0.87780	.|0.2611|0.2611|0.2611	.|5|9|6	.|.|0.87932|0.87932	.|.|D|D	.|.|0|0	.|.|.|.	9.1243|9.1243|9.1243|9.1243	0.36805|0.36805|0.36805|0.36805	0.0:0.6883:0.0:0.3117|0.0:0.6883:0.0:0.3117|0.0:0.6883:0.0:0.3117|0.0:0.6883:0.0:0.3117	.|.|.|.	.|.|252;637;565;271;687;637|.	.|.|E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2|.	.|.|.;.;.;EF1D_HUMAN;.;.|.	.|Q|H|T	-1|146|271;687;252;637;247;271;271;637;565;271;228;247|87	.|.|.|.	.|.|ENSP00000317399:Q271H|ENSP00000433784:R87T	.|E|Q|R	-|-|-|-	.|1|3|2	.|0|2|0	EEF1D|EEF1D|EEF1D|EEF1D	144733138|144733138|144733138|144733138	1.000000|1.000000|1.000000|1.000000	0.71417|0.71417|0.71417|0.71417	1.000000|1.000000|1.000000|1.000000	0.80357|0.80357|0.80357|0.80357	0.953000|0.953000|0.953000|0.953000	0.61014|0.61014|0.61014|0.61014	2.428000|2.428000|2.428000|2.428000	0.44749|0.44749|0.44749|0.44749	0.622000|0.622000|0.622000|0.622000	0.30249|0.30249|0.30249|0.30249	-0.136000|-0.136000|-0.136000|-0.136000	0.14681|0.14681|0.14681|0.14681	.|GAG|CAG|AGA		0.612	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		G	144661995	C	G	144661995	3	3	301	1	0	0	0	0	1	0	0	0	4928	912	32	4	36	4	EEF1D	8	144661995	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	35691623	144661995	1702027	65	17958											
MELK	9833	hgsc.bcm.edu	37	9	36583634	36583634	+	Silent	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr9:36583634A>G	ENST00000298048.2	+	3	253	c.69A>G	c.(67-69)gcA>gcG	p.A23A	MELK_ENST00000545008.1_Silent_p.A23A|MELK_ENST00000536987.1_Intron|MELK_ENST00000543751.1_Intron|MELK_ENST00000536329.1_Intron|MELK_ENST00000487398.1_Intron|MELK_ENST00000536860.1_Silent_p.A23A|MELK_ENST00000541717.1_Silent_p.A23A|MELK_ENST00000538311.1_Intron	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	23	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GTGGCTTTGCAAAGGTCAAAC	0.323																																					Ovarian(82;980 1317 7225 14391 18624)											0													66	65	65					9																	36583634		2203	4300	6503	SO:0001819	synonymous_variant	9833			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.69A>G	chr9.hg19:g.36583634A>G			A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	ENST00000298048.2	hg19	CCDS6606.1																																																																																				0.323	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		G	36583634	A	G	36583634	2	3	301	1	0	0	0	0	0	0	0	1	9472	117	5	3		3	MELK	9	36583634	Silent	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10		36583634	104629797	66	17959											
ZMYND17	118490	hgsc.bcm.edu	37	10	75187422	75187422	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr10:75187422C>A	ENST00000372912.1	-	2	328	c.326G>T	c.(325-327)aGa>aTa	p.R109I	AL353731.1_ENST00000584907.1_RNA|MSS51_ENST00000299432.2_Missense_Mutation_p.R109I			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	109					social behavior (GO:0035176)		metal ion binding (GO:0046872)										AGGGAGTGCTCTACAGTGAGC	0.488																																																0													150	152	151					10																	75187422		2203	4300	6503	SO:0001583	missense	118490			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"Zinc fingers, MYND-type"	21000	protein-coding gene	gene with protein product		614773	"zinc finger, MYND-type containing 17", "MSS51 mitochondrial translational activator homolog (S. cerevisiae)"	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.326G>T	chr10.hg19:g.75187422C>A	ENSP00000362003:p.Arg109Ile		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	hg19	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006937	0.74932	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.47528	0.84;0.84	5.93	1.82	0.25136	Zinc finger, MYND-type (3);	0.272901	0.39985	N	0.001207	T	0.45915	0.1366	L	0.46157	1.445	0.28419	N	0.917817	P;P	0.42941	0.794;0.755	P;P	0.49192	0.602;0.466	T	0.37957	-0.9683	10	0.52906	T	0.07	-1.0575	7.4501	0.27234	0.0:0.5461:0.0:0.4539	.	109;109	Q4VC12;F6VAV3	ZMY17_HUMAN;.	I	109	ENSP00000299432:R109I;ENSP00000362003:R109I	ENSP00000299432:R109I	R	-	2	0	ZMYND17	74857428	0.998000	0.40836	0.944000	0.38274	0.974000	0.67602	0.901000	0.28445	0.332000	0.23536	0.591000	0.81541	AGA		0.488	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		A	75187422	C	A	75187422	3	1	301	1	0	0	0	0	1	0	0	0	17714	913	32	4	1076	4	ZMYND17	10	75187422	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10		75187422	60347325	67	17960											
FUT11	170384	hgsc.bcm.edu	37	10	75533456	75533456	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr10:75533456C>T	ENST00000372841.3	+	2	1260	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	FUT11_ENST00000465695.1_3'UTR|AC022400.2_ENST00000595757.1_5'Flank|FUT11_ENST00000394790.1_Missense_Mutation_p.A406V|RMRPP1_ENST00000517236.1_RNA	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	406					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					AAAGCCCACGCGGCCTCTCCC	0.597																																																0													70	73	72					10																	75533456		2203	4300	6503	SO:0001583	missense	170384			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"Fucosyltransferases"	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1217C>T	chr10.hg19:g.75533456C>T	ENSP00000361932:p.Ala406Val		Q495W7|Q8IYE4	Missense_Mutation	SNP	ENST00000372841.3	hg19	CCDS7333.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411217	0.42817	.	.	ENSG00000196968	ENST00000372841;ENST00000394790	T;T	0.35605	1.32;1.3	5.68	-3.31	0.04988	.	0.603818	0.19087	N	0.123083	T	0.12263	0.0298	N	0.14661	0.345	0.09310	N	1	B;B	0.34349	0.156;0.45	B;B	0.27500	0.061;0.08	T	0.33085	-0.9882	10	0.13853	T	0.58	-31.9131	4.6888	0.12771	0.5766:0.2067:0.0844:0.1324	.	406;406	Q495W5;Q495W5-2	FUT11_HUMAN;.	V	406	ENSP00000361932:A406V;ENSP00000378270:A406V	ENSP00000361932:A406V	A	+	2	0	FUT11	75203462	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	0.215000	0.17562	-0.197000	0.10350	0.563000	0.77884	GCG		0.597	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		T	75533456	C	T	75533456	3	4	301	1	0	0	0	0	1	0	0	0	6105	768	27	1	1223	1	FUT11	10	75533456	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	346034	75533456	60001291	68	17961											
PDCD11	22984	hgsc.bcm.edu	37	10	105205187	105205189	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr10:105205187_105205189delTTC	ENST00000369797.3	+	36	5591_5593	c.5497_5499delTTC	c.(5497-5499)ttcdel	p.F1835del		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1835					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAGAATGAAGTTCTTCTTCAAGC	0.542																																																0																																										SO:0001651	inframe_deletion	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5497_5499delTTC	chr10.hg19:g.105205193_105205195delTTC	ENSP00000358812:p.Phe1835del		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	In_Frame_Del	DEL	ENST00000369797.3	hg19	CCDS31276.1																																																																																				0.542	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			-	105205189	TTC	-	105205187	7	5	301	1	0	1	0	1	0	0	0	0	11619	1725	60	0	5635	0	PDCD11	10	105205187	In_Frame_Del	DEL	TTC	TCGA-B9-A44B-01A-11D-A25F-10	29671731	105205187	30329560	69	17962											
FBXO3	26273	hgsc.bcm.edu	37	11	33770331	33770331	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:33770331C>T	ENST00000265651.3	-	9	1058	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	FBXO3_ENST00000531080.1_Missense_Mutation_p.G34E|FBXO3_ENST00000532057.1_Missense_Mutation_p.G34E|FBXO3_ENST00000448981.2_Missense_Mutation_p.G347E|FBXO3_ENST00000526785.1_Missense_Mutation_p.G234E|FBXO3_ENST00000534136.1_Missense_Mutation_p.G347E|FBXO3_ENST00000530401.1_Missense_Mutation_p.G342E	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	347	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ACCAACTACTCCAGGTCCTTG	0.373																																																0													99	99	99					11																	33770331		2202	4298	6500	SO:0001583	missense	26273			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1040G>A	chr11.hg19:g.33770331C>T	ENSP00000265651:p.Gly347Glu		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	hg19	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567786	0.86439	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000530401;ENST00000531080;ENST00000532057;ENST00000534136;ENST00000448981	T;T;T;T;T	0.71934	-0.51;-0.61;-0.5;-0.54;-0.51	5.61	4.68	0.58851	ApaG domain (4);	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.993;0.999	D	0.93248	0.6632	10	0.87932	D	0	-21.1763	16.4024	0.83644	0.0:0.8681:0.1319:0.0	.	342;347;347	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	E	234;347;342;34;34;347;347	ENSP00000435680:G234E;ENSP00000265651:G347E;ENSP00000433781:G342E;ENSP00000431745:G347E;ENSP00000408836:G347E	ENSP00000265651:G347E	G	-	2	0	FBXO3	33726907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.294000	0.78760	1.355000	0.45865	0.491000	0.48974	GGA		0.373	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		T	33770331	C	T	33770331	3	4	301	1	0	0	0	0	1	0	0	0	5741	855	30	2	396	2	FBXO3	11	33770331	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10		33770331	101236185	70	17963											
CD6	923	hgsc.bcm.edu	37	11	60778597	60778605	+	In_Frame_Del	DEL	AGTCACTAT	AGTCACTAT	-	rs374328736		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	AGTCACTAT	AGTCACTAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:60778597_60778605delAGTCACTAT	ENST00000313421.7	+	6	1326_1334	c.1140_1148delAGTCACTAT	c.(1138-1149)acagtcactata>aca	p.VTI381del	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000344028.5_In_Frame_Del_p.VTI381del|CD6_ENST00000352009.5_In_Frame_Del_p.VTI381del|CD6_ENST00000452451.2_In_Frame_Del_p.VTI381del|CD6_ENST00000346437.4_In_Frame_Del_p.VTI381del	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	381					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GTGTTCAGACAGTCACTATAGGTAAGTGT	0.526																																					Pancreas(169;904 2017 4767 38890 42505)											0																																										SO:0001651	inframe_deletion	923				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1140_1148delAGTCACTAT	chr11.hg19:g.60778597_60778605delAGTCACTAT	ENSP00000323280:p.Val381_Ile383del		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	In_Frame_Del	DEL	ENST00000313421.7	hg19	CCDS7999.1																																																																																				0.526	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		-	60778605	AGTCACTAT	-	60778597	7	5	301	1	0	1	0	1	0	0	0	0	3030	175	7	0	1162	0	CD6	11	60778597	In_Frame_Del	DEL	AGTCACTAT	TCGA-B9-A44B-01A-11D-A25F-10	27008266	60778597	74227919	71	17964											
HNRNPUL2	221092	hgsc.bcm.edu	37	11	62491416	62491416	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:62491416delC	ENST00000301785.5	-	3	913	c.721delG	c.(721-723)gagfs	p.E241fs	HNRNPUL2-BSCL2_ENST00000403734.2_Frame_Shift_Del_p.E241fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	241	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTTTGATCCTCCTCCTCATCT	0.383																																																0													196	187	190					11																	62491416		1958	4148	6106	SO:0001589	frameshift_variant	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.721delG	chr11.hg19:g.62491416delC	ENSP00000301785:p.Glu241fs		Q8N3B3	Frame_Shift_Del	DEL	ENST00000301785.5	hg19	CCDS41659.1																																																																																				0.383	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		-	62491416	C	-	62491416	7	5	301	1	0	1	0	1	0	0	0	0	7277	864	30	0	1570	0	HNRNPUL2	11	62491416	Frame_Shift_Del	DEL	C	TCGA-B9-A44B-01A-11D-A25F-10	1712819	62491416	72515100	72	17965											
PPP2R5B	5526	hgsc.bcm.edu	37	11	64694184	64694184	+	Splice_Site	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:64694184A>G	ENST00000164133.2	+	3	822	c.200A>G	c.(199-201)gAt>gGt	p.D67G		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	67					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TCCTCCCCAGATGTGCCGGCT	0.662																																																0													55	61	59					11																	64694184		2201	4297	6498	SO:0001630	splice_region_variant	5526			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.200-1A>G	chr11.hg19:g.64694184A>G			Q13853	Missense_Mutation	SNP	ENST00000164133.2	hg19	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654294	0.47467	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000527441	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.82517	2.595	0.80722	D	1	B	0.14012	0.009	B	0.24974	0.057	T	0.66748	-0.5845	8	.	.	.	.	12.2855	0.54789	1.0:0.0:0.0:0.0	.	67	Q15173	2A5B_HUMAN	G	67;67;94;67	.	.	D	+	2	0	PPP2R5B	64450760	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	8.597000	0.90847	2.077000	0.62373	0.528000	0.53228	GAT		0.662	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244	Missense_Mutation	G	64694184	A	G	64694184	5	3	301	1	0	0	0	0	0	0	1	0	12398	347	12	3	206	3	PPP2R5B	11	64694184	Splice_Site	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	2202768	64694184	70312332	73	17966											
MYO7A	4647	hgsc.bcm.edu	37	11	76925728	76925728	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:76925728G>T	ENST00000409709.3	+	49	6907	c.6635G>T	c.(6634-6636)aGg>aTg	p.R2212M	MYO7A_ENST00000458637.2_Missense_Mutation_p.R2172M|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.R2163M	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2212					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CGGGGCTCCAGGAGCGGCAAG	0.582																																																0													28	31	30					11																	76925728		2034	4166	6200	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6635G>T	chr11.hg19:g.76925728G>T	ENSP00000386331:p.Arg2212Met		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	hg19	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004181	0.35320	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	D;D;D;D	0.88664	-2.39;-2.39;-2.41;-2.2	5.47	4.55	0.56014	.	0.125567	0.64402	D	0.000013	D	0.91382	0.7281	M	0.73598	2.24	0.38514	D	0.948547	D;D	0.64830	0.991;0.994	P;P	0.60682	0.878;0.759	D	0.91720	0.5388	10	0.87932	D	0	.	5.1745	0.15127	0.2814:0.0:0.7186:0.0	.	2172;2212	F8VUN5;Q13402	.;MYO7A_HUMAN	M	2212;2172;2163;1385;2211;2181;2088;1354	ENSP00000386331:R2212M;ENSP00000392185:R2172M;ENSP00000386635:R2163M;ENSP00000417017:R1354M	ENSP00000345075:R2088M	R	+	2	0	MYO7A	76603376	1.000000	0.71417	0.998000	0.56505	0.371000	0.29859	4.530000	0.60595	2.558000	0.86282	0.467000	0.42956	AGG		0.582	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		T	76925728	G	T	76925728	3	4	301	1	0	0	0	0	1	0	0	0	10084	1000	35	4	6859	4	MYO7A	11	76925728	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	12231544	76925728	58080788	74	17967											
HEPHL1	341208	hgsc.bcm.edu	37	11	93797512	93797529	+	In_Frame_Del	DEL	ATTCAGGGACACGGAATG	ATTCAGGGACACGGAATG	-	rs200031155|rs368679862|rs556983825		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	ATTCAGGGACACGGAATG	ATTCAGGGACACGGAATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:93797512_93797529delATTCAGGGACACGGAATG	ENST00000315765.9	+	4	652_669	c.644_661delATTCAGGGACACGGAATG	c.(643-663)tattcagggacacggaatgat>tat	p.SGTRND216del		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	216					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTGAATAGATATTCAGGGACACGGAATGATGTGGATCG	0.394																																																0																																										SO:0001651	inframe_deletion	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.644_661delATTCAGGGACACGGAATG	chr11.hg19:g.93797512_93797529delATTCAGGGACACGGAATG	ENSP00000313699:p.Ser216_Asp221del		Q3C1W7	In_Frame_Del	DEL	ENST00000315765.9	hg19	CCDS44710.1																																																																																				0.394	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		-	93797529	ATTCAGGGACACGGAATG	-	93797512	7	5	301	1	0	1	0	1	0	0	0	0	7057	449	16	0	658	0	HEPHL1	11	93797512	In_Frame_Del	DEL	ATTCAGGGACACGGAATG	TCGA-B9-A44B-01A-11D-A25F-10	16871784	93797512	41209004	75	17968											
PHLDB1	23187	hgsc.bcm.edu	37	11	118509935	118509935	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr11:118509935G>A	ENST00000361417.2	+	13	3113	c.2702G>A	c.(2701-2703)aGg>aAg	p.R901K	PHLDB1_ENST00000527898.1_5'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.R901K|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_5'Flank|AP002954.3_ENST00000530198.1_RNA	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	901										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACAGGGGGCAGGCCTTTCCCG	0.562																																																0													97	84	88					11																	118509935		2200	4295	6495	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2702G>A	chr11.hg19:g.118509935G>A	ENSP00000354498:p.Arg901Lys		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	hg19	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890173	0.52014	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.41065	1.01;1.01	4.39	4.39	0.52855	.	0.120998	0.49916	D	0.000123	T	0.28067	0.0692	L	0.31065	0.9	0.80722	D	1	B;B;B;B	0.30482	0.002;0.281;0.062;0.003	B;B;B;B	0.34093	0.004;0.175;0.025;0.005	T	0.05954	-1.0854	10	0.02654	T	1	-25.2439	12.056	0.53536	0.0:0.1734:0.8266:0.0	.	645;901;901;901	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	K	901;660;265;901	ENSP00000354498:R901K;ENSP00000348359:R901K	ENSP00000348359:R901K	R	+	2	0	PHLDB1	118015145	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.292000	0.51772	2.010000	0.58986	0.456000	0.33151	AGG		0.562	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		A	118509935	G	A	118509935	3	1	301	1	0	0	0	0	1	0	0	0	11853	1000	35	2	2744	2	PHLDB1	11	118509935	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	24712423	118509935	16496581	76	17969											
KIAA0528	9847	hgsc.bcm.edu	37	12	22670928	22670928	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:22670928G>T	ENST00000333957.4	-	8	1199	c.944C>A	c.(943-945)cCc>cAc	p.P315H	C2CD5_ENST00000544930.1_Intron|C2CD5_ENST00000446597.1_Missense_Mutation_p.P315H|C2CD5_ENST00000542676.1_Missense_Mutation_p.P315H|C2CD5_ENST00000536386.1_Intron|C2CD5_ENST00000396028.2_Intron|C2CD5_ENST00000545552.1_Intron|C2CD5_ENST00000540703.1_5'Flank	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	315					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ACCAGTTTTGGGTGTCAAACT	0.383																																																0													177	174	175					12																	22670928		2203	4300	6503	SO:0001583	missense	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.944C>A	chr12.hg19:g.22670928G>T	ENSP00000334229:p.Pro315His		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	hg19	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536609	0.65085	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000542676	T;T;T	0.50001	0.76;0.76;0.76	6.04	5.14	0.70334	.	.	.	.	.	T	0.66268	0.2772	M	0.75777	2.31	0.80722	D	1	D;D	0.65815	0.995;0.957	P;P	0.59288	0.855;0.58	T	0.71758	-0.4496	9	0.72032	D	0.01	-3.34	17.3582	0.87342	0.0:0.125:0.875:0.0	.	315;315	B4DRN7;Q86YS7	.;K0528_HUMAN	H	315	ENSP00000334229:P315H;ENSP00000388756:P315H;ENSP00000441951:P315H	ENSP00000334229:P315H	P	-	2	0	KIAA0528	22562195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.606000	0.98325	1.538000	0.49270	0.561000	0.74099	CCC		0.383	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		T	22670928	G	T	22670928	3	4	301	1	0	0	0	0	1	0	0	0	8184	1232	43	4	2130	4	KIAA0528	12	22670928	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10		22670928	111180967	77	17970											
ARID2	196528	hgsc.bcm.edu	37	12	46205220	46205221	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:46205220_46205221delAA	ENST00000334344.6	+	4	476_477	c.304_305delAA	c.(304-306)aaafs	p.K102fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	102	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAAGTACGAGAAAGTTCATCAT	0.366			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0																																										SO:0001589	frameshift_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.304_305delAA	chr12.hg19:g.46205220_46205221delAA	ENSP00000335044:p.Lys102fs		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	hg19	CCDS31783.1																																																																																				0.366	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		-	46205221	AA	-	46205220	7	5	301	1	0	1	0	1	0	0	0	0	915	247	9	0	318	0	ARID2	12	46205220	Frame_Shift_Del	DEL	AA	TCGA-B9-A44B-01A-11D-A25F-10	23534292	46205220	87646675	78	17971											
PRPH	5630	hgsc.bcm.edu	37	12	49690229	49690229	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:49690229C>T	ENST00000257860.4	+	3	2120	c.621C>T	c.(619-621)gcC>gcT	p.A207A	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						TGGACGATGCCACTCTGTCCC	0.567																																																0													86	77	80					12																	49690229		2203	4300	6503	SO:0001819	synonymous_variant	5630				CCDS8783.1	12q12-q13	2013-01-16						"Intermediate filaments type III"	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.621C>T	chr12.hg19:g.49690229C>T			Q5TFH5|Q6DK65	Silent	SNP	ENST00000257860.4	hg19	CCDS8783.1																																																																																				0.567	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		T	49690229	C	T	49690229	2	4	301	1	0	0	0	0	0	0	0	1	12581	581	21	2		2	PRPH	12	49690229	Silent	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	3485009	49690229	84161666	79	17972											
KCNH3	23416	hgsc.bcm.edu	37	12	49951017	49951018	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:49951017_49951018delAC	ENST00000257981.6	+	14	2887_2888	c.2627_2628delAC	c.(2626-2628)gacfs	p.D876fs	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	876					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGAACACAGACACACTGGACA	0.619																																																0																																										SO:0001589	frameshift_variant	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2627_2628delAC	chr12.hg19:g.49951021_49951022delAC	ENSP00000257981:p.Asp876fs		Q9UQ06	Frame_Shift_Del	DEL	ENST00000257981.6	hg19	CCDS8786.1																																																																																				0.619	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		-	49951018	AC	-	49951017	7	5	301	1	0	1	0	1	0	0	0	0	8035	275	10	0	2681	0	KCNH3	12	49951017	Frame_Shift_Del	DEL	AC	TCGA-B9-A44B-01A-11D-A25F-10	260788	49951017	83900878	80	17973											
KRT85	3891	hgsc.bcm.edu	37	12	52754642	52754642	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:52754642C>T	ENST00000257901.3	-	9	1594	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	KRT85_ENST00000544265.1_Missense_Mutation_p.A295T	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	507	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCTACTAGGCAAAGCGGACC	0.607																																																0													44	52	49					12																	52754642		2201	4300	6501	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1519G>A	chr12.hg19:g.52754642C>T	ENSP00000257901:p.Ala507Thr		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	hg19	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746175	0.30955	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.82255	-1.59;-1.5	5.22	3.31	0.37934	.	0.000000	0.44097	D	0.000485	T	0.72104	0.3419	N	0.22421	0.69	0.09310	N	1	B	0.27498	0.18	B	0.26517	0.07	T	0.67952	-0.5537	10	0.87932	D	0	.	12.1399	0.53993	0.0:0.6712:0.3288:0.0	.	507	P78386	KRT85_HUMAN	T	507;295	ENSP00000257901:A507T;ENSP00000440240:A295T	ENSP00000257901:A507T	A	-	1	0	KRT85	51040909	0.619000	0.27059	0.841000	0.33234	0.099000	0.18886	0.941000	0.29005	1.427000	0.47276	0.609000	0.83330	GCC		0.607	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		T	52754642	C	T	52754642	3	4	301	1	0	0	0	0	1	0	0	0	8501	710	25	2	8	2	KRT85	12	52754642	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	2803625	52754642	81097253	81	17974											
LRP1	4035	hgsc.bcm.edu	37	12	57587701	57587701	+	Silent	SNP	C	C	T	rs367824154		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:57587701C>T	ENST00000243077.3	+	48	8290	c.7824C>T	c.(7822-7824)ggC>ggT	p.G2608G	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2608	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGGTGTGGGCGAGTTCCGCT	0.612																																																0								C		1,4405	2.1+/-5.4	0,1,2202	95	86	89		7824	-5.7	0.2	12		89	0,8600		0,0,4300	no	coding-synonymous	LRP1	NM_002332.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2608/4545	57587701	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7824C>T	chr12.hg19:g.57587701C>T			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	hg19	CCDS8932.1																																																																																				0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57587701	C	T	57587701	2	4	301	1	0	0	0	0	0	0	0	1	8953	755	27	1		1	LRP1	12	57587701	Silent	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	4833059	57587701	76264194	82	17975											
PTPRB	5787	hgsc.bcm.edu	37	12	70932007	70932007	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:70932007A>T	ENST00000261266.5	-	26	5249	c.5220T>A	c.(5218-5220)gaT>gaA	p.D1740E	PTPRB_ENST00000550358.1_Missense_Mutation_p.D1870E|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000334414.6_Missense_Mutation_p.D1958E|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1650E|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1650E|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1650E	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1740	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTCGCGTGGCATCATCTGGAA	0.478																																																0													162	159	160					12																	70932007		2102	4245	6347	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5220T>A	chr12.hg19:g.70932007A>T	ENSP00000261266:p.Asp1740Glu		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952571	0.73787	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.67	0.844	0.18943	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.91623	0.7353	M	0.78801	2.425	0.53688	D	0.999979	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.89983	0.4102	10	0.87932	D	0	.	9.5604	0.39366	0.6532:0.0:0.3468:0.0	.	1650;1650;1958;1740;1870	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	E	1958;1650;1870;1650;1650;1740	ENSP00000334928:D1958E;ENSP00000393028:D1650E;ENSP00000448058:D1870E;ENSP00000438927:D1650E;ENSP00000447302:D1650E;ENSP00000261266:D1740E	ENSP00000261266:D1740E	D	-	3	2	PTPRB	69218274	1.000000	0.71417	0.996000	0.52242	0.783000	0.44284	1.253000	0.32886	0.122000	0.18314	-0.371000	0.07208	GAT		0.478	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			T	70932007	A	T	70932007	3	4	301	1	0	0	0	0	1	0	0	0	12802	214	8	5	801	5	PTPRB	12	70932007	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	13344306	70932007	62919888	83	17976											
TMCC3	57458	hgsc.bcm.edu	37	12	94965249	94965249	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:94965249T>C	ENST00000261226.4	-	4	1527	c.1396A>G	c.(1396-1398)Atc>Gtc	p.I466V	TMCC3_ENST00000551457.1_Missense_Mutation_p.I435V	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	466						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCACACAGGATATGGTCCCAG	0.418																																																0													113	108	110					12																	94965249		2203	4300	6503	SO:0001583	missense	57458			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1396A>G	chr12.hg19:g.94965249T>C	ENSP00000261226:p.Ile466Val		Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	hg19	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.378687	0.24944	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.40756	1.02;1.02	5.33	5.33	0.75918	.	0.057274	0.64402	D	0.000001	T	0.49847	0.1581	L	0.32530	0.975	0.48185	D	0.999604	D	0.61697	0.99	D	0.68192	0.956	T	0.36212	-0.9757	10	0.13470	T	0.59	-18.6633	15.2998	0.73940	0.0:0.0:0.0:1.0	.	466	Q9ULS5	TMCC3_HUMAN	V	466;435	ENSP00000261226:I466V;ENSP00000449888:I435V	ENSP00000261226:I466V	I	-	1	0	TMCC3	93489380	1.000000	0.71417	0.950000	0.38849	0.986000	0.74619	2.358000	0.44134	2.019000	0.59389	0.459000	0.35465	ATC		0.418	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		C	94965249	T	C	94965249	3	2	301	1	0	0	0	0	1	0	0	0	15999	1406	49	3	41	3	TMCC3	12	94965249	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	24033242	94965249	38886646	84	17977											
PXN	5829	hgsc.bcm.edu	37	12	120653013	120653013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr12:120653013delG	ENST00000228307.7	-	8	1138	c.997delC	c.(997-999)cagfs	p.Q333fs	PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000536957.1_Frame_Shift_Del_p.Q331fs|PXN_ENST00000424649.2_Frame_Shift_Del_p.Q299fs|PXN_ENST00000458477.2_Frame_Shift_Del_p.Q166fs|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000267257.7_Frame_Shift_Del_p.Q347fs|PXN_ENST00000397506.3_Frame_Shift_Del_p.Q145fs|PXN-AS1_ENST00000535200.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	333					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTCCAGCTGGCTCCCGGGC	0.677																																																0													11	13	12					12																	120653013		2038	4192	6230	SO:0001589	frameshift_variant	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.997delC	chr12.hg19:g.120653013delG	ENSP00000228307:p.Gln333fs		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Frame_Shift_Del	DEL	ENST00000228307.7	hg19	CCDS44997.1																																																																																				0.677	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		-	120653013	G	-	120653013	7	5	301	1	0	1	0	1	0	0	0	0	12858	1357	47	0	798	0	PXN	12	120653013	Frame_Shift_Del	DEL	G	TCGA-B9-A44B-01A-11D-A25F-10	25687764	120653013	13198882	85	17978											
PABPC3	5042	hgsc.bcm.edu	37	13	25671122	25671122	+	Silent	SNP	C	C	T	rs79072440		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr13:25671122C>T	ENST00000281589.3	+	1	823	c.786C>T	c.(784-786)taC>taT	p.Y262Y		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	262	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AACAAATTTACGTTGGTCGAG	0.408																																																0																																										SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.786C>T	chr13.hg19:g.25671122C>T			Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	hg19	CCDS9311.1																																																																																				0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		T	25671122	C	T	25671122	2	4	301	1	0	0	0	0	0	0	0	1	11367	547	19	1		1	PABPC3	13	25671122	Silent	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10		25671122	89498756	86	17979											
ABCC4	10257	hgsc.bcm.edu	37	13	95840715	95840715	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr13:95840715C>A	ENST00000376887.4	-	10	1459	c.1345G>T	c.(1345-1347)Gca>Tca	p.A449S	ABCC4_ENST00000536256.1_Missense_Mutation_p.A374S|ABCC4_ENST00000412704.1_Missense_Mutation_p.A449S|ABCC4_ENST00000431522.1_Missense_Mutation_p.A449S|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	449	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ACCTTCCCTGCTCCCACGGGG	0.468																																																0													120	109	113					13																	95840715		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1345G>T	chr13.hg19:g.95840715C>A	ENSP00000366084:p.Ala449Ser		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	hg19	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673351	0.47781	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	5.22	4.29	0.51040	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.050917	0.85682	D	0.000000	D	0.84316	0.5445	N	0.02751	-0.505	0.80722	D	1	B;B;B;B;B	0.27117	0.032;0.068;0.028;0.168;0.038	B;B;B;B;B	0.27262	0.039;0.05;0.076;0.078;0.034	T	0.81959	-0.0694	10	0.07175	T	0.84	.	16.4591	0.84031	0.1401:0.8598:0.0:0.0	.	374;449;449;449;449	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	S	449;449;374;449	ENSP00000388657:A449S;ENSP00000366084:A449S;ENSP00000442024:A374S;ENSP00000398562:A449S	ENSP00000366084:A449S	A	-	1	0	ABCC4	94638716	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.665000	0.54532	2.447000	0.82792	0.637000	0.83480	GCA		0.468	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		A	95840715	C	A	95840715	3	1	301	1	0	0	0	0	1	0	0	0	55	797	28	4	2769	4	ABCC4	13	95840715	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	70169593	95840715	19329163	87	17980											
ACIN1	22985	hgsc.bcm.edu	37	14	23549484	23549484	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:23549484C>G	ENST00000262710.1	-	6	1561	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	ACIN1_ENST00000605057.1_Missense_Mutation_p.E354Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.E372Q|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.E412Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	412	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGAGTCTCCTCCTCGCTGGCA	0.517																																																0													59	61	61					14																	23549484		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1234G>C	chr14.hg19:g.23549484C>G	ENSP00000262710:p.Glu412Gln		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	hg19	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780380	0.70222	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.30448	1.53;1.53;1.53	5.27	5.27	0.74061	.	0.000000	0.41605	D	0.000851	T	0.40886	0.1135	L	0.27053	0.805	0.34634	D	0.719933	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.75484	0.986;0.968;0.968	T	0.43605	-0.9381	10	0.32370	T	0.25	-13.6658	14.2703	0.66147	0.0:1.0:0.0:0.0	.	412;412;372	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	Q	412;372;412	ENSP00000262710:E412Q;ENSP00000405677:E372Q;ENSP00000451328:E412Q	ENSP00000262710:E412Q	E	-	1	0	ACIN1	22619324	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.347000	0.52200	2.752000	0.94435	0.650000	0.86243	GAG		0.517	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		G	23549484	C	G	23549484	3	3	301	1	0	0	0	0	1	0	0	0	142	864	30	4	2994	4	ACIN1	14	23549484	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10		23549484	83800056	88	17981											
SAMD4A	23034	hgsc.bcm.edu	37	14	55203876	55203876	+	Missense_Mutation	SNP	C	C	T	rs138744574	byFrequency	TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:55203876C>T	ENST00000554335.1	+	4	1513	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F	SAMD4A_ENST00000357634.3_Missense_Mutation_p.L283F|SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000392067.3_Missense_Mutation_p.L284F			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	284					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ACCCCAGTGCCTCCCATCCGA	0.537																																																0													226	210	215					14																	55203876		2203	4300	6503	SO:0001583	missense	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.850C>T	chr14.hg19:g.55203876C>T	ENSP00000452535:p.Leu284Phe		A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	hg19	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354282	0.41700	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000357634	.	.	.	5.15	4.19	0.49359	.	0.203527	0.35615	N	0.003096	T	0.39410	0.1077	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33317	-0.9873	9	0.56958	D	0.05	-16.9697	8.4253	0.32725	0.1972:0.7168:0.0:0.086	.	284	Q9UPU9	SMAG1_HUMAN	F	284;284;283	.	ENSP00000350261:L283F	L	+	1	0	SAMD4A	54273626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.201000	0.32259	2.673000	0.90976	0.655000	0.94253	CTC		0.537	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		T	55203876	C	T	55203876	3	4	301	1	0	0	0	0	1	0	0	0	13827	681	24	2	857	2	SAMD4A	14	55203876	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	31654392	55203876	52145664	89	17982											
SYNE2	23224	hgsc.bcm.edu	37	14	64610587	64610587	+	Missense_Mutation	SNP	A	A	G	rs556819169		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:64610587A>G	ENST00000344113.4	+	83	15616	c.15404A>G	c.(15403-15405)tAt>tGt	p.Y5135C	SYNE2_ENST00000555002.1_Missense_Mutation_p.Y1769C|SYNE2_ENST00000358025.3_Missense_Mutation_p.Y5135C|SYNE2_ENST00000357395.3_Missense_Mutation_p.Y1520C|SYNE2_ENST00000394768.2_Missense_Mutation_p.Y1520C|SYNE2_ENST00000554584.1_Missense_Mutation_p.Y5052C|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5135					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCAAGCGCTATGAAAGAACG	0.458													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19135	0.0		0.0	False		,,,				2504	0.0															0													276	278	277					14																	64610587		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15404A>G	chr14.hg19:g.64610587A>G	ENSP00000341781:p.Tyr5135Cys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096384	0.56075	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.52754	1.32;0.65;1.32;1.32;0.67;0.65	5.33	5.33	0.75918	.	0.000000	0.48286	D	0.000190	T	0.67979	0.2951	M	0.73598	2.24	0.80722	D	1	B;D;B;P	0.89917	0.081;1.0;0.382;0.644	B;D;B;B	0.73380	0.094;0.98;0.146;0.307	T	0.70633	-0.4818	10	0.51188	T	0.08	.	15.2733	0.73723	1.0:0.0:0.0:0.0	.	1520;5052;5135;5135	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	C	5135;1520;5135;5052;5058;1769;1520	ENSP00000350719:Y5135C;ENSP00000349969:Y1520C;ENSP00000341781:Y5135C;ENSP00000452570:Y5052C;ENSP00000450831:Y1769C;ENSP00000378249:Y1520C	ENSP00000261678:Y5058C	Y	+	2	0	SYNE2	63680340	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.285000	0.65633	2.004000	0.58718	0.528000	0.53228	TAT		0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64610587	A	G	64610587	3	3	301	1	0	0	0	0	1	0	0	0	15451	449	16	3	15730	3	SYNE2	14	64610587	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	9406711	64610587	42738953	90	17983											
MTHFD1	4522	hgsc.bcm.edu	37	14	64924942	64924942	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:64924942T>C	ENST00000216605.8	+	27	2807	c.2729T>C	c.(2728-2730)aTg>aCg	p.M910T	MTHFD1_ENST00000545908.1_Intron|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|MTHFD1_ENST00000556284.1_3'UTR	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	910	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	ATGAGCACAATGCCTGGACTC	0.448																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											0													141	140	141					14																	64924942		2203	4300	6503	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000216605.8:c.2729T>C	chr14.hg19:g.64924942T>C	ENSP00000216605:p.Met910Thr		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000216605.8	hg19	CCDS9763.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.906782	0.72868	.	.	ENSG00000100714	ENST00000555709;ENST00000216605	T;T	0.29142	1.58;1.58	5.27	5.27	0.74061	.	0.179769	0.64402	D	0.000011	T	0.65831	0.2729	H	0.98199	4.17	0.80722	D	1	P	0.43909	0.821	P	0.54140	0.743	T	0.78607	-0.2138	10	0.87932	D	0	-32.6795	14.6571	0.68841	0.0:0.0:0.0:1.0	.	910	G3V2B8	.	T	910;966	ENSP00000450560:M910T;ENSP00000216605:M966T	ENSP00000216605:M910T	M	+	2	0	MTHFD1	63994695	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.503000	0.81632	2.117000	0.64856	0.482000	0.46254	ATG		0.448	MTHFD1-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471593.1			C	64924942	T	C	64924942	3	2	301	1	0	0	0	0	1	0	0	0	9929	1464	51	3	2835	3	MTHFD1	14	64924942	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	314355	64924942	42424598	91	17984											
RDH11	51109	hgsc.bcm.edu	37	14	68159767	68159767	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr14:68159767T>G	ENST00000381346.4	-	2	187	c.77A>C	c.(76-78)aAa>aCa	p.K26T	RDH11_ENST00000553384.1_Missense_Mutation_p.K26T|RP11-1012A1.4_ENST00000554493.1_5'Flank|RP11-1012A1.4_ENST00000553306.1_5'Flank|RDH11_ENST00000428130.2_Missense_Mutation_p.K26T	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	26					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GGACAGCATTTTCCTGCAGAC	0.483																																																0													94	86	89					14																	68159767		2203	4300	6503	SO:0001583	missense	51109			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	17964	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 1", "androgen-regulated short-chain dehydrogenase/reductase 1"	607849	"retinol dehydrogenase 11 (all-trans and 9-cis)"			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.77A>C	chr14.hg19:g.68159767T>G	ENSP00000370750:p.Lys26Thr		A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	hg19	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.669280	0.47677	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000557273;ENST00000557726	D;D;D;D;D	0.90133	-1.78;-1.5;-1.91;-2.34;-2.62	5.31	4.17	0.49024	.	0.298500	0.36234	N	0.002701	D	0.83459	0.5259	N	0.19112	0.55	0.38302	D	0.943	P;P;P	0.47910	0.902;0.716;0.594	P;P;B	0.45681	0.476;0.49;0.295	T	0.81688	-0.0819	10	0.34782	T	0.22	.	7.5042	0.27534	0.0:0.1787:0.0:0.8213	.	26;26;26	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	T	26	ENSP00000370750:K26T;ENSP00000452079:K26T;ENSP00000416395:K26T;ENSP00000450651:K26T;ENSP00000450435:K26T	ENSP00000370750:K26T	K	-	2	0	RDH11	67229520	0.987000	0.35691	0.999000	0.59377	0.943000	0.58893	1.910000	0.39927	1.044000	0.40200	0.533000	0.62120	AAA		0.483	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			G	68159767	T	G	68159767	3	3	301	1	0	0	0	0	1	0	0	0	13196	1841	64	5	903	5	RDH11	14	68159767	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	3234825	68159767	39189773	92	17985											
NUSAP1	51203	hgsc.bcm.edu	37	15	41657726	41657726	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:41657726A>G	ENST00000559596.1	+	7	874	c.787A>G	c.(787-789)Acc>Gcc	p.T263A	NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560747.1_Missense_Mutation_p.T261A|NUSAP1_ENST00000450318.1_Missense_Mutation_p.T263A|NUSAP1_ENST00000414849.2_Missense_Mutation_p.T262A|NUSAP1_ENST00000260359.6_Missense_Mutation_p.T248A|NUSAP1_ENST00000450592.2_Missense_Mutation_p.T239A|NUSAP1_ENST00000560177.1_Missense_Mutation_p.T262A			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	263	Interaction with microtubules. {ECO:0000250}.				establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AAGTCAGAGTACCTTGGGTCT	0.512																																																0													35	34	34					15																	41657726		1905	4133	6038	SO:0001583	missense	51203			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.787A>G	chr15.hg19:g.41657726A>G	ENSP00000453403:p.Thr263Ala		B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	ENST00000559596.1	hg19	CCDS45234.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417901	0.25552	.	.	ENSG00000137804	ENST00000260359;ENST00000414849;ENST00000450318;ENST00000450592	T;T;T	0.33438	1.41;1.41;1.41	4.64	0.0292	0.14161	.	0.492803	0.22030	N	0.065603	T	0.18383	0.0441	L	0.45137	1.4	0.09310	N	1	B;B;B;B;B;B;B	0.20671	0.018;0.018;0.047;0.037;0.023;0.047;0.047	B;B;B;B;B;B;B	0.20767	0.007;0.016;0.031;0.022;0.007;0.031;0.031	T	0.22800	-1.0206	10	0.15499	T	0.54	.	3.8119	0.08801	0.5416:0.1864:0.272:0.0	.	239;263;261;262;263;263;262	E7ERR5;E9PB35;Q9BXS6-3;Q9BXS6-5;A8K4B4;Q9BXS6;Q9BXS6-2	.;.;.;.;.;NUSAP_HUMAN;.	A	263;262;263;239	ENSP00000400746:T262A;ENSP00000401351:T263A;ENSP00000401014:T239A	ENSP00000260359:T263A	T	+	1	0	NUSAP1	39445018	0.167000	0.22975	0.004000	0.12327	0.008000	0.06430	1.620000	0.36976	-0.153000	0.11137	-0.438000	0.05819	ACC		0.512	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	NM_016359		G	41657726	A	G	41657726	3	3	301	1	0	0	0	0	1	0	0	0	10780	391	14	3	813	3	NUSAP1	15	41657726	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10		41657726	60873666	93	17986											
TP53BP1	7158	hgsc.bcm.edu	37	15	43771711	43771711	+	Silent	SNP	T	T	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:43771711T>C	ENST00000263801.3	-	7	909	c.657A>G	c.(655-657)gaA>gaG	p.E219E	TP53BP1_ENST00000450115.2_Silent_p.E224E|TP53BP1_ENST00000382039.3_Silent_p.E224E|TP53BP1_ENST00000382044.4_Silent_p.E224E	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	219					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGGACTGTTCTTCATGCTTAA	0.378								Other conserved DNA damage response genes																																								0													233	184	201					15																	43771711		2201	4298	6499	SO:0001819	synonymous_variant	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.657A>G	chr15.hg19:g.43771711T>C			F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	hg19	CCDS10096.1																																																																																				0.378	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			C	43771711	T	C	43771711	2	2	301	1	0	0	0	0	0	0	0	1	16388	1606	56	3		3	TP53BP1	15	43771711	Silent	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	2113985	43771711	58759681	94	17987											
CATSPER2	117155	hgsc.bcm.edu	37	15	43940128	43940128	+	Silent	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:43940128G>A	ENST00000321596.5	-	2	331	c.132C>T	c.(130-132)atC>atT	p.I44I	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000396879.1_Silent_p.I44I|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.I44I|CATSPER2_ENST00000381761.1_Silent_p.I50I|CATSPER2_ENST00000355438.2_Silent_p.I44I			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	44					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAACTCCCTGATAGTGTGCC	0.453																																																0													118	123	122					15																	43940128		2199	4296	6495	SO:0001819	synonymous_variant	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.132C>T	chr15.hg19:g.43940128G>A			Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	hg19	CCDS10099.1																																																																																				0.453	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		A	43940128	G	A	43940128	2	1	301	1	0	0	0	0	0	0	0	1	2690	1280	45	2		2	CATSPER2	15	43940128	Silent	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	168417	43940128	58591264	95	17988											
DAPK2	23604	hgsc.bcm.edu	37	15	64204316	64204316	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:64204316C>G	ENST00000457488.1	-	10	969	c.939G>C	c.(937-939)agG>agC	p.R313S	DAPK2_ENST00000261891.3_Missense_Mutation_p.R313S	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	313	Calmodulin-binding.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CCTTCCACCGCCTGCGGACAT	0.622																																																0													59	48	52					15																	64204316		2203	4300	6503	SO:0001583	missense	23604			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.939G>C	chr15.hg19:g.64204316C>G	ENSP00000408277:p.Arg313Ser		E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	ENST00000457488.1	hg19	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777111	0.70107	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.68025	-0.3;-0.3	5.15	3.28	0.37604	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000011	T	0.74191	0.3684	M	0.70275	2.135	0.43054	D	0.994667	D	0.67145	0.996	P	0.58454	0.839	T	0.74213	-0.3738	10	0.62326	D	0.03	.	8.8262	0.35057	0.0:0.8244:0.0:0.1756	.	313	Q9UIK4	DAPK2_HUMAN	S	313	ENSP00000261891:R313S;ENSP00000408277:R313S	ENSP00000261891:R313S	R	-	3	2	DAPK2	61991369	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	1.554000	0.36266	0.573000	0.29400	-0.192000	0.12808	AGG		0.622	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326		G	64204316	C	G	64204316	3	3	301	1	0	0	0	0	1	0	0	0	4238	738	26	4	185	4	DAPK2	15	64204316	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	20264188	64204316	38327076	96	17989											
SENP8	123228	hgsc.bcm.edu	37	15	72432461	72432461	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:72432461A>T	ENST00000542035.2	+	2	830	c.497A>T	c.(496-498)tAc>tTc	p.Y166F	SENP8_ENST00000544171.1_Missense_Mutation_p.Y166F|SENP8_ENST00000544411.1_Missense_Mutation_p.Y166F|RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000340912.4_Missense_Mutation_p.Y166F	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	166	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						TGTGGGATGTACGTGATATGT	0.478																																																0													117	113	114					15																	72432461		2199	4297	6496	SO:0001583	missense	123228			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.497A>T	chr15.hg19:g.72432461A>T	ENSP00000446057:p.Tyr166Phe		Q96QA4	Missense_Mutation	SNP	ENST00000542035.2	hg19	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150452	0.78001	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.86	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	L	0.51853	1.615	0.58432	D	0.999999	D	0.56521	0.976	P	0.56751	0.805	T	0.24657	-1.0154	10	0.25106	T	0.35	-15.1718	13.2186	0.59875	0.867:0.133:0.0:0.0	.	166	Q96LD8	SENP8_HUMAN	F	166	ENSP00000446057:Y166F;ENSP00000441753:Y166F;ENSP00000340505:Y166F;ENSP00000439415:Y166F	ENSP00000340505:Y166F	Y	+	2	0	SENP8	70219515	1.000000	0.71417	0.921000	0.36526	0.907000	0.53573	9.228000	0.95250	1.018000	0.39521	-0.323000	0.08544	TAC		0.478	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204		T	72432461	A	T	72432461	3	4	301	1	0	0	0	0	1	0	0	0	14058	391	14	5	499	5	SENP8	15	72432461	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	8228145	72432461	30098931	97	17990											
PARP6	56965	hgsc.bcm.edu	37	15	72543559	72543559	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:72543559G>A	ENST00000569795.1	-	17	1984	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	PARP6_ENST00000260376.7_Missense_Mutation_p.P433S|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.P433S			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	433	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTGCTGAGAGGTAGTTTGACA	0.413																																																0													104	99	101					15																	72543559		1869	4113	5982	SO:0001583	missense	56965			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1297C>T	chr15.hg19:g.72543559G>A	ENSP00000456348:p.Pro433Ser		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	hg19	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378759	0.82682	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097	.	.	.	5.14	4.22	0.49857	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66317	0.2777	L	0.41824	1.3	0.80722	D	1	B;D;D	0.89917	0.374;0.993;1.0	B;D;D	0.80764	0.117;0.979;0.994	T	0.66586	-0.5886	9	0.46703	T	0.11	-4.7079	12.9482	0.58384	0.0779:0.0:0.9221:0.0	.	433;433;365	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	S	433;433;433;278	.	ENSP00000260376:P433S	P	-	1	0	PARP6	70330613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.539000	0.98076	1.386000	0.46466	0.655000	0.94253	CCT		0.413	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		A	72543559	G	A	72543559	3	1	301	1	0	0	0	0	1	0	0	0	11466	1261	44	2	627	2	PARP6	15	72543559	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	111098	72543559	29987833	98	17991											
FANCI	55215	hgsc.bcm.edu	37	15	89801970	89801970	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:89801970delA	ENST00000310775.7	+	3	206	c.120delA	c.(118-120)ggafs	p.G40fs	FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000567996.1_Frame_Shift_Del_p.G40fs|FANCI_ENST00000300027.8_Frame_Shift_Del_p.G40fs	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	40					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAGTGAAAGGAAAAGTTGCTG	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													181	178	179					15																	89801970		2200	4299	6499	SO:0001589	frameshift_variant	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.120delA	chr15.hg19:g.89801970delA	ENSP00000310842:p.Gly40fs		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Frame_Shift_Del	DEL	ENST00000310775.7	hg19	CCDS45346.1																																																																																				0.388	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		-	89801970	A	-	89801970	7	5	301	1	0	1	0	1	0	0	0	0	5671	233	9	0	126	0	FANCI	15	89801970	Frame_Shift_Del	DEL	A	TCGA-B9-A44B-01A-11D-A25F-10	17258411	89801970	12729422	99	17992											
OR4F6	390648	hgsc.bcm.edu	37	15	102346642	102346642	+	Silent	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr15:102346642G>T	ENST00000328882.4	+	1	741	c.720G>T	c.(718-720)ctG>ctT	p.L240L		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTCTATGCTGTCAGCTCATG	0.353																																																0													172	165	167					15																	102346642		2202	4300	6502	SO:0001819	synonymous_variant	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.720G>T	chr15.hg19:g.102346642G>T			B9EH28|Q6IF95	Silent	SNP	ENST00000328882.4	hg19	CCDS32341.1																																																																																				0.353	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			T	102346642	G	T	102346642	2	4	301	1	0	0	0	0	0	0	0	1	11068	1364	48	4		4	OR4F6	15	102346642	Silent	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	12544672	102346642	184750	100	17993											
PLK1	5347	hgsc.bcm.edu	37	16	23690422	23690422	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr16:23690422C>A	ENST00000300093.4	+	1	280	c.169C>A	c.(169-171)Cgc>Agc	p.R57S	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	57	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TGTGCGGGGCCGCTTTTTGGG	0.657																																					Colon(12;240 564 27038 33155)											0													16	19	18					16																	23690422		2197	4300	6497	SO:0001583	missense	5347				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.169C>A	chr16.hg19:g.23690422C>A	ENSP00000300093:p.Arg57Ser		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	hg19	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861173	0.71949	.	.	ENSG00000166851	ENST00000300093;ENST00000330792	T	0.25579	1.79	4.08	3.09	0.35607	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	L	0.37630	1.12	0.80722	D	1	P	0.49090	0.919	P	0.49752	0.621	T	0.01600	-1.1315	10	0.44086	T	0.13	-18.3883	7.0374	0.25000	0.198:0.6098:0.1921:0.0	.	57	P53350	PLK1_HUMAN	S	57	ENSP00000300093:R57S	ENSP00000300093:R57S	R	+	1	0	PLK1	23597923	0.986000	0.35501	0.991000	0.47740	0.995000	0.86356	2.740000	0.47418	1.026000	0.39733	0.561000	0.74099	CGC		0.657	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		A	23690422	C	A	23690422	3	1	301	1	0	0	0	0	1	0	0	0	12096	652	23	4	171	4	PLK1	16	23690422	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10		23690422	66664331	101	17994											
LONP2	83752	hgsc.bcm.edu	37	16	48311386	48311386	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr16:48311386T>G	ENST00000285737.4	+	8	1472	c.1379T>G	c.(1378-1380)cTt>cGt	p.L460R	LONP2_ENST00000535754.1_Missense_Mutation_p.L416R	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGCTCTGCTTGAGGTAAGA	0.438																																																0													81	73	76					16																	48311386		2200	4300	6500	SO:0001583	missense	83752			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1379T>G	chr16.hg19:g.48311386T>G	ENSP00000285737:p.Leu460Arg			Missense_Mutation	SNP	ENST00000285737.4	hg19	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.426428	0.83667	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T;T	0.55760	0.5;0.5;0.5	5.96	5.96	0.96718	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92181	0.5751	10	0.87932	D	0	-17.8825	16.4277	0.83824	0.0:0.0:0.0:1.0	.	416;460	B7ZKL7;Q86WA8	.;LONP2_HUMAN	R	460;189;416;416	ENSP00000285737:L460R;ENSP00000445426:L416R;ENSP00000415983:L416R	ENSP00000285737:L460R	L	+	2	0	LONP2	46868887	1.000000	0.71417	0.992000	0.48379	0.761000	0.43186	7.996000	0.88334	2.279000	0.76181	0.533000	0.62120	CTT		0.438	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		G	48311386	T	G	48311386	3	3	301	1	0	0	0	0	1	0	0	0	8895	1609	56	5	1409	5	LONP2	16	48311386	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	24620964	48311386	42043367	102	17995											
GUCY2D	3000	hgsc.bcm.edu	37	17	7910749	7910749	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:7910749G>A	ENST00000254854.4	+	6	1619	c.1469G>A	c.(1468-1470)cGg>cAg	p.R490Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	490					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.R490Q(1)		skin(1)	1		Prostate(122;0.157)				ACCAGGCACCGGCTACTTCAC	0.592																																																1	Substitution - Missense(1)	lung(1)											105	102	103					17																	7910749		2203	4300	6503	SO:0001583	missense	3000			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1469G>A	chr17.hg19:g.7910749G>A	ENSP00000254854:p.Arg490Gln		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	hg19	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388655	0.42308	.	.	ENSG00000132518	ENST00000254854	D	0.83591	-1.74	5.52	0.753	0.18404	.	0.440036	0.19338	N	0.116724	T	0.74261	0.3693	L	0.41710	1.295	0.18873	N	0.999989	B	0.22146	0.065	B	0.11329	0.006	T	0.59768	-0.7392	10	0.28530	T	0.3	.	14.1923	0.65646	0.2084:0.0:0.7916:0.0	.	490	Q02846	GUC2D_HUMAN	Q	490	ENSP00000254854:R490Q	ENSP00000254854:R490Q	R	+	2	0	GUCY2D	7851474	0.946000	0.32159	0.998000	0.56505	0.972000	0.66771	2.884000	0.48562	0.309000	0.22966	-1.267000	0.01435	CGG		0.592	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			A	7910749	G	A	7910749	3	1	301	1	0	0	0	0	1	0	0	0	6899	1116	39	1	1487	1	GUCY2D	17	7910749	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10		7910749	73284461	103	17996											
SGK494	9703	hgsc.bcm.edu	37	17	26938587	26938587	+	IGR	SNP	A	A	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:26938587A>G	ENST00000528896.2	-	0	7407				RP11-192H23.4_ENST00000534850.1_3'UTR|SGK494_ENST00000301037.5_Missense_Mutation_p.M270T|RP11-192H23.6_ENST00000579019.2_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCTCTCACCCATGTACTGAAG	0.502																																																0													184	156	165					17																	26938587		2203	4300	6503	SO:0001628	intergenic_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		chr17.hg19:g.26938587A>G			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.245285	0.59103	.	.	ENSG00000167524	ENST00000301037	T	0.09817	2.94	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	M	0.91972	3.26	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.53229	-0.8468	10	0.87932	D	0	-18.3153	14.6957	0.69121	1.0:0.0:0.0:0.0	.	270	Q96LW2	SG494_HUMAN	T	270	ENSP00000301037:M270T	ENSP00000301037:M270T	M	-	2	0	AC005726.6	23962714	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.546000	0.73887	2.074000	0.62210	0.383000	0.25322	ATG		0.502	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		G	26938587	A	G	26938587	1	3	301	0	1	0	0	0	0	0	0	0	14219	217	8	3		3	SGK494	17	26938587	IGR	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	19027838	26938587	54256623	104	17997											
EFCAB5	374786	hgsc.bcm.edu	37	17	28296149	28296149	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:28296149A>T	ENST00000394835.3	+	4	723	c.531A>T	c.(529-531)aaA>aaT	p.K177N	EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000536908.2_Missense_Mutation_p.K121N|EFCAB5_ENST00000320856.5_Missense_Mutation_p.K177N|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.K177N|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K177N	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	177							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCTTGACAAACTTCTACCCA	0.373																																																0													45	43	44					17																	28296149		1839	4090	5929	SO:0001583	missense	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.531A>T	chr17.hg19:g.28296149A>T	ENSP00000378312:p.Lys177Asn		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	hg19	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	A	11.59	1.682704	0.29872	.	.	ENSG00000176927	ENST00000536908;ENST00000421238;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598	T;T;T;T;T	0.32023	1.51;2.55;2.51;1.81;1.47	5.57	-0.614	0.11590	.	.	.	.	.	T	0.36771	0.0979	L	0.33485	1.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.995;0.995	D;D;D;D	0.91635	0.999;0.999;0.909;0.909	T	0.10177	-1.0641	8	.	.	.	-14.4895	8.1332	0.31039	0.4603:0.1168:0.4229:0.0	.	121;177;177;177	F5GYL2;B5MEA3;E7EVS9;A4FU69	.;.;.;EFCB5_HUMAN	N	121;121;177;177;177;177;121	ENSP00000440619:K121N;ENSP00000378312:K177N;ENSP00000322003:K177N;ENSP00000378309:K177N;ENSP00000368012:K177N	.	K	+	3	2	EFCAB5	25320275	1.000000	0.71417	0.998000	0.56505	0.492000	0.33523	0.654000	0.24918	-0.080000	0.12685	-0.290000	0.09829	AAA		0.373	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		T	28296149	A	T	28296149	3	4	301	1	0	0	0	0	1	0	0	0	4940	40	2	5	545	5	EFCAB5	17	28296149	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	1357562	28296149	52899061	105	17998											
PTRF	284119	hgsc.bcm.edu	37	17	40557359	40557359	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:40557359T>A	ENST00000357037.5	-	2	938	c.519A>T	c.(517-519)aaA>aaT	p.K173N		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCTCCGACTCTTTCAGCGATT	0.652																																																0													79	86	83					17																	40557359		2202	4300	6502	SO:0001583	missense	284119			AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.519A>T	chr17.hg19:g.40557359T>A	ENSP00000349541:p.Lys173Asn			Missense_Mutation	SNP	ENST00000357037.5	hg19	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.186520	0.57909	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.60171	0.21	5.35	-3.31	0.04988	.	0.183494	0.47455	D	0.000233	T	0.61924	0.2386	M	0.72353	2.195	0.50813	D	0.999894	D;D	0.56035	0.974;0.974	P;P	0.53146	0.719;0.719	T	0.65352	-0.6189	10	0.30078	T	0.28	-16.9364	14.7183	0.69286	0.0:0.6953:0.0:0.3047	.	155;173	B4DNU9;Q6NZI2	.;PTRF_HUMAN	N	173;128	ENSP00000349541:K173N	ENSP00000349541:K173N	K	-	3	2	PTRF	37810885	0.929000	0.31497	0.985000	0.45067	0.776000	0.43924	0.061000	0.14366	-0.544000	0.06232	-0.490000	0.04691	AAA		0.652	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		A	40557359	T	A	40557359	3	1	301	1	0	0	0	0	1	0	0	0	12821	1606	56	5	657	5	PTRF	17	40557359	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	12261210	40557359	40637851	106	17999											
MBTD1	54799	hgsc.bcm.edu	37	17	49302371	49302371	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:49302371A>C	ENST00000586178.1	-	3	495	c.152T>G	c.(151-153)aTg>aGg	p.M51R	MBTD1_ENST00000415868.1_Missense_Mutation_p.M51R|MBTD1_ENST00000376381.2_Missense_Mutation_p.M51R|MBTD1_ENST00000593259.1_5'Flank	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	51					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATACTCACCCATGCCAGATTT	0.393																																																0													145	135	138					17																	49302371		692	1591	2283	SO:0001583	missense	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.152T>G	chr17.hg19:g.49302371A>C	ENSP00000468304:p.Met51Arg		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	hg19	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377416	0.82682	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.23950	1.9;1.88	5.21	5.21	0.72293	Zinc finger, FCS-type (1);	0.073350	0.85682	D	0.000000	T	0.39759	0.1090	L	0.40543	1.245	0.80722	D	1	D;D	0.60575	0.988;0.96	P;D	0.69142	0.701;0.962	T	0.06789	-1.0807	10	0.23891	T	0.37	.	15.3505	0.74380	1.0:0.0:0.0:0.0	.	51;51	Q05BQ5;Q05BQ5-2	MBTD1_HUMAN;.	R	51	ENSP00000403946:M51R;ENSP00000365561:M51R	ENSP00000365561:M51R	M	-	2	0	MBTD1	46657370	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.248000	0.95456	2.089000	0.63090	0.482000	0.46254	ATG		0.393	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			C	49302371	A	C	49302371	3	2	301	1	0	0	0	0	1	0	0	0	9362	217	8	5	1794	5	MBTD1	17	49302371	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10	8745012	49302371	31892839	107	18000											
NAT9	26151	hgsc.bcm.edu	37	17	72768142	72768142	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:72768142T>G	ENST00000357814.3	-	6	519	c.446A>C	c.(445-447)aAt>aCt	p.N149T	NAT9_ENST00000583476.1_Intron|NAT9_ENST00000581136.1_Missense_Mutation_p.N144T|NAT9_ENST00000578822.1_Missense_Mutation_p.N154T|NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000580301.1_Missense_Mutation_p.N148T|NAT9_ENST00000583757.1_Intron|NAT9_ENST00000582870.1_Missense_Mutation_p.N153T|NAT9_ENST00000580632.1_Missense_Mutation_p.N149T|NAT9_ENST00000582524.1_Intron	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	149	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GCTTGGTTCATTTCCTTGCCC	0.567																																																0													168	164	165					17																	72768142		2203	4300	6503	SO:0001583	missense	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.446A>C	chr17.hg19:g.72768142T>G	ENSP00000350467:p.Asn149Thr		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	ENST00000357814.3	hg19	CCDS11706.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.499275	0.44455	.	.	ENSG00000109065	ENST00000357814	T	0.78364	-1.17	5.09	5.09	0.68999	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95440	0.8524	10	0.87932	D	0	-19.1654	15.1669	0.72837	0.0:0.0:0.0:1.0	.	148;149	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	T	149	ENSP00000350467:N149T	ENSP00000350467:N149T	N	-	2	0	NAT9	70279737	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.519000	0.81809	2.055000	0.61198	0.459000	0.35465	AAT		0.567	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654		G	72768142	T	G	72768142	3	3	301	1	0	0	0	0	1	0	0	0	10184	1493	52	5	185	5	NAT9	17	72768142	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10	23465771	72768142	8427068	108	18001											
CARD14	79092	hgsc.bcm.edu	37	17	78166392	78166392	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:78166392G>A	ENST00000573882.1	+	11	1866	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	CARD14_ENST00000344227.2_Missense_Mutation_p.D444N|CARD14_ENST00000392434.2_Missense_Mutation_p.D207N|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.D444N			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	444					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGACGACAGCGACTGCAGCCT	0.662																																																0													50	51	51					17																	78166392		2203	4300	6503	SO:0001583	missense	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1330G>A	chr17.hg19:g.78166392G>A	ENSP00000458715:p.Asp444Asn		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	hg19	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	G	2.678	-0.275943	0.05679	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.32515	1.45;1.45	3.64	0.451	0.16629	.	1.109330	0.06805	N	0.789318	T	0.16938	0.0407	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14438	0.002;0.01;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.29088	-1.0023	10	0.08599	T	0.76	-9.737	3.7718	0.08645	0.3225:0.1839:0.4936:0.0	.	444;207;444	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	N	444;207;207	ENSP00000344549:D444N;ENSP00000376229:D207N	ENSP00000308507:D207N	D	+	1	0	CARD14	75780987	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.205000	0.09411	-0.044000	0.13491	-1.162000	0.01777	GAC		0.662	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			A	78166392	G	A	78166392	3	1	301	1	0	0	0	0	1	0	0	0	2648	1058	37	1	1360	1	CARD14	17	78166392	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	5398250	78166392	3028818	109	18002											
NPTX1	4884	hgsc.bcm.edu	37	17	78449367	78449367	+	Frame_Shift_Del	DEL	A	A	-	rs375303530		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr17:78449367delA	ENST00000306773.4	-	2	753	c.596delT	c.(595-597)gtcfs	p.V199fs	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	199					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CTCGATCTTGACCCTCTCCTC	0.657																																																0													55	41	46					17																	78449367		2202	4300	6502	SO:0001589	frameshift_variant	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.596delT	chr17.hg19:g.78449367delA	ENSP00000307549:p.Val199fs		B3KXH3|Q5FWE6	Frame_Shift_Del	DEL	ENST00000306773.4	hg19	CCDS32762.1																																																																																				0.657	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			-	78449367	A	-	78449367	7	5	301	1	0	1	0	1	0	0	0	0	10604	275	10	0	718	0	NPTX1	17	78449367	Frame_Shift_Del	DEL	A	TCGA-B9-A44B-01A-11D-A25F-10	282975	78449367	2745843	110	18003											
DSG3	1830	hgsc.bcm.edu	37	18	29038453	29038453	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr18:29038453T>G	ENST00000257189.4	+	4	345	c.262T>G	c.(262-264)Tct>Gct	p.S88A		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTACCGAATCTCTGGAGTGGG	0.448																																																0													103	102	102					18																	29038453		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.262T>G	chr18.hg19:g.29038453T>G	ENSP00000257189:p.Ser88Ala		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	hg19	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280611	0.80692	.	.	ENSG00000134757	ENST00000257189	T	0.52057	0.68	5.76	3.2	0.36748	Cadherin (4);Cadherin-like (1);	0.141448	0.32563	N	0.005937	T	0.69360	0.3102	M	0.91920	3.255	0.35383	D	0.790079	D	0.55385	0.971	P	0.60068	0.868	T	0.81453	-0.0926	10	0.87932	D	0	.	11.3024	0.49314	0.2412:0.0:0.0:0.7588	.	88	P32926	DSG3_HUMAN	A	88	ENSP00000257189:S88A	ENSP00000257189:S88A	S	+	1	0	DSG3	27292451	0.993000	0.37304	0.857000	0.33713	0.922000	0.55478	2.362000	0.44169	1.080000	0.41073	0.528000	0.53228	TCT		0.448	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		G	29038453	T	G	29038453	3	3	301	1	0	0	0	0	1	0	0	0	4780	1551	54	5	276	5	DSG3	18	29038453	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10		29038453	49038795	111	18004											
ABCA7	10347	hgsc.bcm.edu	37	19	1059069	1059069	+	Silent	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:1059069G>T	ENST00000263094.6	+	40	5679	c.5448G>T	c.(5446-5448)ggG>ggT	p.G1816G	ABCA7_ENST00000433129.1_Silent_p.G1816G|ABCA7_ENST00000435683.2_Silent_p.G1678G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1816	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCCTGGGGATTCCCCCTG	0.617																																																0													81	68	73					19																	1059069		2202	4300	6502	SO:0001819	synonymous_variant	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5448G>T	chr19.hg19:g.1059069G>T			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	hg19	CCDS12055.1																																																																																				0.617	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1059069	G	T	1059069	2	4	301	1	0	0	0	0	0	0	0	1	37	1161	41	4		4	ABCA7	19	1059069	Silent	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10		1059069	58069914	112	18005											
ZNF799	90576	hgsc.bcm.edu	37	19	12502558	12502558	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:12502558C>T	ENST00000430385.3	-	4	854	c.654G>A	c.(652-654)acG>acA	p.T218T	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Silent_p.T186T	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T218T(2)|p.T5T(2)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTCCAGTGTGCGTTCTCTCAT	0.403																																																4	Substitution - coding silent(4)	lung(4)											105	109	108					19																	12502558		2202	4298	6500	SO:0001819	synonymous_variant	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.654G>A	chr19.hg19:g.12502558C>T				Silent	SNP	ENST00000430385.3	hg19	CCDS45989.1																																																																																				0.403	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		T	12502558	C	T	12502558	2	4	301	1	0	0	0	0	0	0	0	1	18171	755	27	1		1	ZNF799	19	12502558	Silent	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	11443489	12502558	46626425	113	18006											
CD97	976	hgsc.bcm.edu	37	19	14517156	14517156	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:14517156G>T	ENST00000242786.5	+	15	1915	c.1835G>T	c.(1834-1836)tGc>tTc	p.C612F	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.C563F|CD97_ENST00000358600.3_Missense_Mutation_p.C519F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	612					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGGCTGCGCTGCCGCCTGGTG	0.706											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													30	24	26					19																	14517156		2190	4280	6470	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1835G>T	chr19.hg19:g.14517156G>T	ENSP00000242786:p.Cys612Phe	695	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	hg19	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158116	0.78114	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	D;D;D	0.82433	-1.61;-1.61;-1.61	4.42	3.33	0.38152	GPCR, family 2-like (1);	0.000000	0.36303	N	0.002674	D	0.93517	0.7931	H	0.97291	3.975	0.48236	D	0.999613	D;D;D	0.71674	0.959;0.976;0.998	D;D;D	0.87578	0.91;0.938;0.998	D	0.93810	0.7109	10	0.87932	D	0	.	11.004	0.47622	0.0:0.0:0.8118:0.1882	.	519;563;612	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	F	612;563;519;562	ENSP00000242786:C612F;ENSP00000349918:C563F;ENSP00000351413:C519F	ENSP00000242786:C612F	C	+	2	0	CD97	14378156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.174000	0.89682	0.778000	0.33520	0.505000	0.49811	TGC		0.706	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		T	14517156	G	T	14517156	3	4	301	1	0	0	0	0	1	0	0	0	3051	1319	46	4	1893	4	CD97	19	14517156	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	2014598	14517156	44611827	114	18007											
EPS15L1	58513	hgsc.bcm.edu	37	19	16548668	16548669	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:16548668_16548669delAT	ENST00000248070.6	-	5	360_361	c.221_222delAT	c.(220-222)tatfs	p.Y74fs	EPS15L1_ENST00000535753.2_Frame_Shift_Del_p.Y74fs|EPS15L1_ENST00000597937.1_Frame_Shift_Del_p.Y74fs|EPS15L1_ENST00000602009.1_5'Flank|EPS15L1_ENST00000455140.2_Frame_Shift_Del_p.Y74fs|EPS15L1_ENST00000594975.1_Frame_Shift_Del_p.Y74fs	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	74	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCAGTGCAACATAGAAACCCTG	0.5																																																0																																										SO:0001589	frameshift_variant	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.221_222delAT	chr19.hg19:g.16548668_16548669delAT	ENSP00000248070:p.Tyr74fs		A2RRF3|A5PL29|B4DKA3	Frame_Shift_Del	DEL	ENST00000248070.6	hg19	CCDS32944.1																																																																																				0.5	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		-	16548669	AT	-	16548668	7	5	301	1	0	1	0	1	0	0	0	0	5195	224	8	0	2448	0	EPS15L1	19	16548668	Frame_Shift_Del	DEL	AT	TCGA-B9-A44B-01A-11D-A25F-10	2031512	16548668	42580315	115	18008											
IFI30	10437	hgsc.bcm.edu	37	19	18288015	18288015	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:18288015C>T	ENST00000407280.3	+	5	724	c.549C>T	c.(547-549)cgC>cgT	p.R183R	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	183					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 II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						TGGGGGACCGCGGCATGCAGC	0.617																																																0													32	34	33					19																	18288015		2111	4231	6342	SO:0001819	synonymous_variant	10437			J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"gamma-interferon-inducible lysosomal thiol reductase", "interferon gamma-inducible protein 30 preproprotein"	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.549C>T	chr19.hg19:g.18288015C>T			Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Silent	SNP	ENST00000407280.3	hg19	CCDS46015.1																																																																																				0.617	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		T	18288015	C	T	18288015	2	4	301	1	0	0	0	0	0	0	0	1	7517	755	27	1		1	IFI30	19	18288015	Silent	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	1739347	18288015	40840968	116	18009											
ZNF814	730051	hgsc.bcm.edu	37	19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T	rs111727691		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																																0													15	12	13					19																	58385790		688	1563	2251	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	chr19.hg19:g.58385790G>T	ENSP00000410545:p.Pro323His		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385790	G	T	58385790	3	4	301	1	0	0	0	0	1	0	0	0	18181	1000	35	4	1603	4	ZNF814	19	58385790	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	40097775	58385790	743193	117	18010	141	2									
ZNF814	730051	hgsc.bcm.edu	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																																0													15	12	13					19																	58385793		687	1562	2249	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	chr19.hg19:g.58385793C>T	ENSP00000410545:p.Arg322Lys		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58385793	C	T	58385793	3	4	301	1	0	0	0	0	1	0	0	0	18181	913	32	2	1606	2	ZNF814	19	58385793	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	3	58385793	743190	118	18011	141	2									
CHD6	84181	hgsc.bcm.edu	37	20	40143495	40143495	+	Silent	SNP	C	C	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr20:40143495C>A	ENST00000373233.3	-	4	828	c.651G>T	c.(649-651)acG>acT	p.T217T	CHD6_ENST00000309279.7_Silent_p.T217T|CHD6_ENST00000373222.3_Silent_p.T252T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	217	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGATGGGTTCGTCAGGCCCT	0.537																																																0													131	122	125					20																	40143495		2203	4300	6503	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.651G>T	chr20.hg19:g.40143495C>A			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	hg19	CCDS13317.1																																																																																				0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			A	40143495	C	A	40143495	2	1	301	1	0	0	0	0	0	0	0	1	3331	871	31	4		4	CHD6	20	40143495	Silent	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10		40143495	22882025	119	18012											
MYBL2	4605	hgsc.bcm.edu	37	20	42328636	42328636	+	Silent	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr20:42328636C>T	ENST00000217026.4	+	7	1030	c.903C>T	c.(901-903)atC>atT	p.I301I	MYBL2_ENST00000396863.4_Silent_p.I277I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	301					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCTCCTCATCCCTGCTGTGG	0.572																																																0													78	56	63					20																	42328636		2203	4300	6503	SO:0001819	synonymous_variant	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.903C>T	chr20.hg19:g.42328636C>T			B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	hg19	CCDS13322.1																																																																																				0.572	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		T	42328636	C	T	42328636	2	4	301	1	0	0	0	0	0	0	0	1	10012	845	30	2		2	MYBL2	20	42328636	Silent	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	2185141	42328636	20696884	120	18013											
WFDC8	90199	hgsc.bcm.edu	37	20	44181865	44181865	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr20:44181865G>T	ENST00000357199.4	-	5	574	c.496C>A	c.(496-498)Cca>Aca	p.P166T	WFDC8_ENST00000289953.2_Missense_Mutation_p.P166T	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	166	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CATGAAGGTGGACACTCCTTA	0.488																																																0													139	111	121					20																	44181865		2203	4300	6503	SO:0001583	missense	90199			AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"WAP four-disulfide core domain containing"	16163	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 170"	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.496C>A	chr20.hg19:g.44181865G>T	ENSP00000361735:p.Pro166Thr		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	hg19	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218036	0.39201	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.71934	-0.61;-0.61	4.91	0.245	0.15512	Whey acidic protein, 4-disulphide core (5);	0.596324	0.15342	N	0.267433	T	0.59074	0.2167	L	0.48986	1.54	0.26237	N	0.978939	P	0.36412	0.552	B	0.42462	0.388	T	0.49597	-0.8923	10	0.07175	T	0.84	.	4.7744	0.13171	0.2342:0.0:0.5927:0.1732	.	166	Q8IUA0	WFDC8_HUMAN	T	166	ENSP00000361735:P166T;ENSP00000289953:P166T	ENSP00000289953:P166T	P	-	1	0	WFDC8	43615279	0.501000	0.26099	0.751000	0.31187	0.050000	0.14768	-0.083000	0.11286	0.202000	0.20498	0.655000	0.94253	CCA		0.488	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			T	44181865	G	T	44181865	3	4	301	1	0	0	0	0	1	0	0	0	17361	1174	41	4	237	4	WFDC8	20	44181865	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	1853229	44181865	18843655	121	18014											
BCAS4	55653	hgsc.bcm.edu	37	20	49458324	49458324	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr20:49458324C>T	ENST00000358791.5	+	4	476	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	BCAS4_ENST00000262591.5_Intron|BCAS4_ENST00000371608.2_Missense_Mutation_p.H126Y|BCAS4_ENST00000609336.1_Missense_Mutation_p.H96Y	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	126						cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						GATGGTTGGACACCACGTCGC	0.657																																																0													76	59	65					20																	49458324		2203	4300	6503	SO:0001583	missense	55653			AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.376C>T	chr20.hg19:g.49458324C>T	ENSP00000351642:p.His126Tyr		Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Missense_Mutation	SNP	ENST00000358791.5	hg19	CCDS33487.1	.	.	.	.	.	.	.	.	.	.	C	1.847	-0.465944	0.04476	.	.	ENSG00000124243	ENST00000358791;ENST00000355583;ENST00000371608	T;T	0.45276	1.9;0.9	4.48	3.5	0.40072	.	0.340201	0.30593	N	0.009290	T	0.37919	0.1021	L	0.51422	1.61	0.50632	D	0.999888	P;P	0.50528	0.763;0.936	B;P	0.44359	0.181;0.447	T	0.11941	-1.0567	10	0.39692	T	0.17	-17.6017	9.5663	0.39400	0.2101:0.7899:0.0:0.0	.	126;126	Q8TDM0-3;Q8TDM0	.;BCAS4_HUMAN	Y	126	ENSP00000351642:H126Y;ENSP00000360669:H126Y	ENSP00000347789:H126Y	H	+	1	0	BCAS4	48891731	0.746000	0.28272	0.137000	0.22149	0.014000	0.08584	1.544000	0.36158	0.837000	0.34925	0.561000	0.74099	CAC		0.657	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079700.1	NM_017843		T	49458324	C	T	49458324	3	4	301	1	0	0	0	0	1	0	0	0	1353	478	17	2	390	2	BCAS4	20	49458324	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	5276459	49458324	13567196	122	18015											
ZDHHC8	29801	hgsc.bcm.edu	37	22	20128194	20128194	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr22:20128194A>T	ENST00000334554.7	+	6	856	c.715A>T	c.(715-717)Aat>Tat	p.N239Y	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.N147Y|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.N239Y|ZDHHC8_ENST00000468112.1_3'UTR	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	239					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CTGCTGTGGGAATGTGGAGCA	0.697																																																0													39	35	36					22																	20128194		2198	4299	6497	SO:0001583	missense	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.715A>T	chr22.hg19:g.20128194A>T	ENSP00000334490:p.Asn239Tyr		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	hg19	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624495	0.87560	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.79845	-0.2;-1.31;-0.32	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.89618	0.3846	10	0.72032	D	0.01	.	15.1958	0.73088	1.0:0.0:0.0:0.0	.	147;239;239	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	Y	239;147;239	ENSP00000334490:N239Y;ENSP00000317804:N147Y;ENSP00000384716:N239Y	ENSP00000317804:N147Y	N	+	1	0	ZDHHC8	18508194	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.875000	0.92372	2.035000	0.60131	0.533000	0.62120	AAT		0.697	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		T	20128194	A	T	20128194	3	4	301	1	0	0	0	0	1	0	0	0	17626	246	9	5	737	5	ZDHHC8	22	20128194	Missense_Mutation	SNP	A	TCGA-B9-A44B-01A-11D-A25F-10		20128194	31176372	123	18016											
C22orf42	150297	hgsc.bcm.edu	37	22	32555017	32555019	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	CTG	CTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chr22:32555017_32555019delCTG	ENST00000382097.3	-	1	256_258	c.184_186delCAG	c.(184-186)cagdel	p.Q62del	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	62										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GGCTGAGGTACTGCATGAGTTGG	0.537																																																0																																										SO:0001651	inframe_deletion	150297			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.184_186delCAG	chr22.hg19:g.32555017_32555019delCTG	ENSP00000371529:p.Gln62del		A4QPH5	In_Frame_Del	DEL	ENST00000382097.3	hg19	CCDS33639.1																																																																																				0.537	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		-	32555019	CTG	-	32555017	7	5	301	1	0	1	0	1	0	0	0	0	2151	564	20	0	605	0	C22orf42	22	32555017	In_Frame_Del	DEL	CTG	TCGA-B9-A44B-01A-11D-A25F-10	12426823	32555017	18749549	124	18017											
POLA1	5422	hgsc.bcm.edu	37	X	24744126	24744126	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chrX:24744126T>A	ENST00000379059.3	+	13	1343	c.1328T>A	c.(1327-1329)aTa>aAa	p.I443K	POLA1_ENST00000379068.3_Missense_Mutation_p.I449K	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	443					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GCTTTTGAGATACCTGATGTT	0.328																																																0													71	69	70					X																	24744126		2203	4300	6503	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1328T>A	chrX.hg19:g.24744126T>A	ENSP00000368349:p.Ile443Lys		Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	hg19	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	t	11.79	1.743738	0.30865	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.42900	0.96;0.96	5.36	4.2	0.49525	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.046811	0.85682	D	0.000000	T	0.30479	0.0766	L	0.42744	1.35	0.80722	D	1	B;B	0.14438	0.001;0.01	B;B	0.20384	0.016;0.029	T	0.08534	-1.0717	10	0.05959	T	0.93	-6.4004	10.4411	0.44466	0.0:0.0769:0.0:0.9231	.	449;443	A6NMQ1;P09884	.;DPOLA_HUMAN	K	449;443	ENSP00000368358:I449K;ENSP00000368349:I443K	ENSP00000368349:I443K	I	+	2	0	POLA1	24654047	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.333000	0.79214	0.832000	0.34804	-0.392000	0.06488	ATA		0.328	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		A	24744126	T	A	24744126	3	1	301	1	0	0	0	0	1	0	0	0	12189	1406	49	5	1378	5	POLA1	23	24744126	Missense_Mutation	SNP	T	TCGA-B9-A44B-01A-11D-A25F-10		24744126	130526434	125	18018											
MCART6	401612	hgsc.bcm.edu	37	X	103349337	103349337	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chrX:103349337C>T	ENST00000357421.4	-	2	784	c.604G>A	c.(604-606)Ggc>Agc	p.G202S		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	202					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TCTGCCAGGCCATCCTGGATG	0.552																																																0													62	65	64					X																	103349337		2202	4300	6502	SO:0001583	missense	401612				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"Solute carriers"	31894	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 6"	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.604G>A	chrX.hg19:g.103349337C>T	ENSP00000361681:p.Gly202Ser		B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	hg19	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	c	9.080	0.999007	0.19121	.	.	ENSG00000176274	ENST00000357421	T	0.77620	-1.11	4.18	2.25	0.28309	Mitochondrial carrier domain (2);	0.586966	0.16485	N	0.212372	T	0.48259	0.1490	N	0.01751	-0.74	0.29543	N	0.85193	B	0.02656	0.0	B	0.06405	0.002	T	0.39881	-0.9592	10	0.22109	T	0.4	-18.0741	7.4625	0.27304	0.0:0.7591:0.0:0.2409	.	202	Q5H9E4	MCAR6_HUMAN	S	202	ENSP00000361681:G202S	ENSP00000361681:G202S	G	-	1	0	MCART6	103235993	0.000000	0.05858	0.980000	0.43619	0.966000	0.64601	-0.866000	0.04245	0.295000	0.22570	0.594000	0.82650	GGC		0.552	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		T	103349337	C	T	103349337	3	4	301	1	0	0	0	0	1	0	0	0	9373	594	21	2	323	2	MCART6	23	103349337	Missense_Mutation	SNP	C	TCGA-B9-A44B-01A-11D-A25F-10	78605211	103349337	51921223	126	18019											
COL4A5	1287	hgsc.bcm.edu	37	X	107938134	107938134	+	Missense_Mutation	SNP	G	G	A	rs104886424		TCGA-B9-A44B-01A-11D-A25F-10	TCGA-B9-A44B-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	88e35d25-d98d-4576-8ebe-1cd74010ecd8	5d028c99-a58c-419a-b566-610dcba9cd5c	g.chrX:107938134G>A	ENST00000361603.2	+	49	5030	c.4786G>A	c.(4786-4788)Ggt>Agt	p.G1596S	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1602S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1596	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		G -> D (in APSX). {ECO:0000269|PubMed:9452056}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCTGTGGATTGGTTATTCCTT	0.453									Alport syndrome with Diffuse Leiomyomatosis																																							0													321	202	242					X																	107938134		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4786G>A	chrX.hg19:g.107938134G>A	ENSP00000354505:p.Gly1596Ser		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	hg19	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313598	0.95655	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186;ENST00000504541	D;D;D	0.99557	-6.16;-6.16;-4.07	5.57	5.57	0.84162	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.99813	0.9918	H	0.97265	3.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96778	0.9573	10	0.87932	D	0	.	18.5959	0.91229	0.0:0.0:1.0:0.0	.	1599;1596	E7EVY4;P29400	.;CO4A5_HUMAN	S	1602;1596;1602;68	ENSP00000331902:G1602S;ENSP00000354505:G1596S;ENSP00000424845:G68S	ENSP00000331902:G1602S	G	+	1	0	COL4A5	107824790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.335000	0.79485	0.594000	0.82650	GGT		0.453	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			A	107938134	G	A	107938134	3	1	301	1	0	0	0	0	1	0	0	0	3696	1348	47	2	4991	2	COL4A5	23	107938134	Missense_Mutation	SNP	G	TCGA-B9-A44B-01A-11D-A25F-10	4588797	107938134	47332426	127	18020											
PIK3R4	30849	hgsc.bcm.edu	37	3	130425829	130425831	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-B9-A5W7-01A-11D-A31X-10	TCGA-B9-A5W7-10A-01D-A31X-10	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	04439867-bb35-44ec-aedd-2cd6183e9b6c	9ef148bd-57c7-41bb-98f3-cb473f34b1ab	g.chr3:130425829_130425831delGAG	ENST00000356763.3	-	11	3239_3241	c.2682_2684delCTC	c.(2680-2685)tcctct>tct	p.894_895SS>S		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	894					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AATGCCAGCAGAGGACTCGGAAC	0.502																																																0																																										SO:0001651	inframe_deletion	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2682_2684delCTC	chr3.hg19:g.130425829_130425831delGAG	ENSP00000349205:p.Ser895del		Q2TBF4	In_Frame_Del	DEL	ENST00000356763.3	hg19	CCDS3067.1																																																																																				0.502	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		-	130425831	GAG	-	130425829	7	5	302	1	0	1	0	1	0	0	0	0	11923	942	33	0	1432	0	PIK3R4	3	130425829	In_Frame_Del	DEL	GAG	TCGA-B9-A5W7-01A-11D-A31X-10		130425829	67596601	1	18021											
COPS4	51138	hgsc.bcm.edu	37	4	83996480	83996480	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A5W7-01A-11D-A31X-10	TCGA-B9-A5W7-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	04439867-bb35-44ec-aedd-2cd6183e9b6c	9ef148bd-57c7-41bb-98f3-cb473f34b1ab	g.chr4:83996480delA	ENST00000264389.2	+	10	1253	c.1118delA	c.(1117-1119)cagfs	p.Q373fs	COPS4_ENST00000509093.1_Frame_Shift_Del_p.R345fs|COPS4_ENST00000511653.1_3'UTR|COPS4_ENST00000503682.1_Frame_Shift_Del_p.Q405fs	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	373					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TGGGATAAGCAGATCCAATCA	0.403																																																0													87	85	86					4																	83996480		2203	4300	6503	SO:0001589	frameshift_variant	51138			AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4", "COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.1118delA	chr4.hg19:g.83996480delA	ENSP00000264389:p.Gln373fs		B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Frame_Shift_Del	DEL	ENST00000264389.2	hg19	CCDS3600.1																																																																																				0.403	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			-	83996480	A	-	83996480	7	5	302	1	0	1	0	1	0	0	0	0	3737	188	7	0	1156	0	COPS4	4	83996480	Frame_Shift_Del	DEL	A	TCGA-B9-A5W7-01A-11D-A31X-10		83996480	107157796	2	18022											
MDGA1	266727	hgsc.bcm.edu	37	6	37606390	37606390	+	Missense_Mutation	SNP	C	C	T	rs376783889		TCGA-B9-A5W7-01A-11D-A31X-10	TCGA-B9-A5W7-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	04439867-bb35-44ec-aedd-2cd6183e9b6c	9ef148bd-57c7-41bb-98f3-cb473f34b1ab	g.chr6:37606390C>T	ENST00000434837.3	-	15	3768	c.2590G>A	c.(2590-2592)Gcc>Acc	p.A864T	MDGA1_ENST00000297153.7_Missense_Mutation_p.A868T|MDGA1_ENST00000505425.1_Missense_Mutation_p.A864T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	864	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGAGACCAGGCGTGCGTGTCC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18090	0.0		0.0	False		,,,				2504	0.0															0								C	THR/ALA	0,4120		0,0,2060	45	52	50		2590	4.2	0.9	6		50	1,8373		0,1,4186	no	missense	MDGA1	NM_153487.3	58	0,1,6246	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	864/956	37606390	1,12493	2060	4187	6247	SO:0001583	missense	266727			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2590G>A	chr6.hg19:g.37606390C>T	ENSP00000402584:p.Ala864Thr		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	hg19	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419072	0.62622	0.0	1.19E-4	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.02158	4.42;4.42;4.42	5.04	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.274741	0.25321	N	0.031518	T	0.01156	0.0038	N	0.20445	0.575	0.24994	N	0.991515	D;P	0.64830	0.994;0.898	P;B	0.51385	0.668;0.104	T	0.56565	-0.7958	10	0.26408	T	0.33	.	11.8151	0.52204	0.0:0.913:0.0:0.087	.	864;864	Q8NFP4-2;Q8NFP4	.;MDGA1_HUMAN	T	864;868;864	ENSP00000402584:A864T;ENSP00000297153:A868T;ENSP00000422042:A864T	ENSP00000297153:A868T	A	-	1	0	MDGA1	37714368	0.971000	0.33674	0.945000	0.38365	0.956000	0.61745	4.713000	0.61895	1.245000	0.43885	0.650000	0.86243	GCC		0.642	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			T	37606390	C	T	37606390	3	4	302	1	0	0	0	0	1	0	0	0	9408	768	27	1	289	1	MDGA1	6	37606390	Missense_Mutation	SNP	C	TCGA-B9-A5W7-01A-11D-A31X-10		37606390	133508677	3	18023											
TSPAN33	340348	hgsc.bcm.edu	37	7	128804350	128804350	+	Silent	SNP	C	C	A			TCGA-B9-A5W7-01A-11D-A31X-10	TCGA-B9-A5W7-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	04439867-bb35-44ec-aedd-2cd6183e9b6c	9ef148bd-57c7-41bb-98f3-cb473f34b1ab	g.chr7:128804350C>A	ENST00000289407.4	+	5	508	c.399C>A	c.(397-399)gcC>gcA	p.A133A	Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	133					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TCAACAATGCCATTGTGCACT	0.498											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													211	180	190					7																	128804350		2203	4300	6503	SO:0001819	synonymous_variant	340348				CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"Tetraspanins"	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.399C>A	chr7.hg19:g.128804350C>A		1567		Silent	SNP	ENST00000289407.4	hg19	CCDS5810.1																																																																																				0.498	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		A	128804350	C	A	128804350	2	1	302	1	0	0	0	0	0	0	0	1	16653	581	21	4		4	TSPAN33	7	128804350	Silent	SNP	C	TCGA-B9-A5W7-01A-11D-A31X-10		128804350	30334313	4	18024											
P2RY2	5029	hgsc.bcm.edu	37	11	72945937	72945937	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W7-01A-11D-A31X-10	TCGA-B9-A5W7-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	04439867-bb35-44ec-aedd-2cd6183e9b6c	9ef148bd-57c7-41bb-98f3-cb473f34b1ab	g.chr11:72945937C>T	ENST00000311131.2	+	3	1200	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	P2RY2_ENST00000393597.2_Missense_Mutation_p.R245C|P2RY2_ENST00000393596.2_Missense_Mutation_p.R245C	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	245					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CAAGTCCGTGCGCACCATCGC	0.642																																																0													101	92	95					11																	72945937		2200	4293	6493	SO:0001583	missense	5029			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.733C>T	chr11.hg19:g.72945937C>T	ENSP00000310305:p.Arg245Cys		B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	hg19	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076082	0.55646	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.37411	1.2;1.2;1.2	4.42	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.057192	0.64402	D	0.000005	T	0.60830	0.2299	M	0.88450	2.955	0.52501	D	0.999954	D	0.89917	1.0	D	0.71414	0.973	T	0.66999	-0.5781	10	0.87932	D	0	.	9.3877	0.38354	0.4324:0.5676:0.0:0.0	.	245	P41231	P2RY2_HUMAN	C	245	ENSP00000377222:R245C;ENSP00000310305:R245C;ENSP00000377221:R245C	ENSP00000310305:R245C	R	+	1	0	P2RY2	72623585	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.622000	0.54217	2.170000	0.68504	0.561000	0.74099	CGC		0.642	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		T	72945937	C	T	72945937	3	4	302	1	0	0	0	0	1	0	0	0	11354	768	27	1	735	1	P2RY2	11	72945937	Missense_Mutation	SNP	C	TCGA-B9-A5W7-01A-11D-A31X-10		72945937	62060579	5	18025											
ATN1	1822	hgsc.bcm.edu	37	12	7045933	7045933	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A5W7-01A-11D-A31X-10	TCGA-B9-A5W7-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	04439867-bb35-44ec-aedd-2cd6183e9b6c	9ef148bd-57c7-41bb-98f3-cb473f34b1ab	g.chr12:7045933G>T	ENST00000356654.4	+	5	1740	c.1503G>T	c.(1501-1503)caG>caT	p.Q501H	ATN1_ENST00000396684.2_Missense_Mutation_p.Q501H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	501	Poly-Gln.				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						agcagcagcagcagcaTCACG	0.632																																																0													50	59	56					12																	7045933		2203	4300	6503	SO:0001583	missense	1822			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.1503G>T	chr12.hg19:g.7045933G>T	ENSP00000349076:p.Gln501His		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	hg19	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	4.415	0.076769	0.08485	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.56776	0.44;0.44;0.44	2.87	-4.98	0.03019	.	.	.	.	.	T	0.29158	0.0725	N	0.22421	0.69	0.09310	N	1	P	0.44521	0.837	B	0.36418	0.224	T	0.25537	-1.0129	9	0.12430	T	0.62	.	12.1608	0.54103	0.1812:0.0:0.8188:0.0	.	501	P54259	ATN1_HUMAN	H	501;501;501;86	ENSP00000349076:Q501H;ENSP00000379915:Q501H;ENSP00000441744:Q501H	ENSP00000229279:Q86H	Q	+	3	2	ATN1	6916194	0.370000	0.25047	0.054000	0.19295	0.338000	0.28826	0.810000	0.27183	-1.248000	0.02503	0.177000	0.17058	CAG		0.632	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		T	7045933	G	T	7045933	3	4	302	1	0	0	0	0	1	0	0	0	1111	962	34	4	1517	4	ATN1	12	7045933	Missense_Mutation	SNP	G	TCGA-B9-A5W7-01A-11D-A31X-10		7045933	126805962	6	18026											
KIF26A	26153	hgsc.bcm.edu	37	14	104639376	104639376	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A5W7-01A-11D-A31X-10	TCGA-B9-A5W7-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	04439867-bb35-44ec-aedd-2cd6183e9b6c	9ef148bd-57c7-41bb-98f3-cb473f34b1ab	g.chr14:104639376G>A	ENST00000423312.2	+	8	1483	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	KIF26A_ENST00000315264.7_Missense_Mutation_p.A356T	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	495	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGTGCCCTGCGCCATCTCCTG	0.682																																																0													21	27	25					14																	104639376		2117	4214	6331	SO:0001583	missense	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1483G>A	chr14.hg19:g.104639376G>A	ENSP00000388241:p.Ala495Thr		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	hg19	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	35	5.536616	0.96460	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.48522	0.81;0.81	4.84	4.84	0.62591	Kinesin, motor domain (4);	.	.	.	.	T	0.65616	0.2708	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68891	-0.5289	9	0.66056	D	0.02	.	17.9375	0.89017	0.0:0.0:1.0:0.0	.	495	Q9ULI4	KI26A_HUMAN	T	495;356	ENSP00000388241:A495T;ENSP00000325452:A356T	ENSP00000325452:A356T	A	+	1	0	KIF26A	103709129	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.702000	0.84576	2.223000	0.72356	0.462000	0.41574	GCC		0.682	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			A	104639376	G	A	104639376	3	1	302	1	0	0	0	0	1	0	0	0	8296	1087	38	1	1513	1	KIF26A	14	104639376	Missense_Mutation	SNP	G	TCGA-B9-A5W7-01A-11D-A31X-10		104639376	2710164	7	18027											
ALKBH7	84266	hgsc.bcm.edu	37	19	6374248	6374248	+	Missense_Mutation	SNP	G	G	T	rs377101608		TCGA-B9-A5W7-01A-11D-A31X-10	TCGA-B9-A5W7-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	04439867-bb35-44ec-aedd-2cd6183e9b6c	9ef148bd-57c7-41bb-98f3-cb473f34b1ab	g.chr19:6374248G>T	ENST00000245812.3	+	2	627	c.239G>T	c.(238-240)cGc>cTc	p.R80L	ALKBH7_ENST00000596657.1_5'UTR|ALKBH7_ENST00000599849.1_Missense_Mutation_p.R19L	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	80					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAGAAGTCGCGCTGGTCAGAA	0.657																																																0													27	31	29					19																	6374248		2201	4299	6500	SO:0001583	missense	84266			AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"Alkylation repair homologs"	21306	protein-coding gene	gene with protein product		613305	"spermatogenesis associated 11"	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.239G>T	chr19.hg19:g.6374248G>T	ENSP00000245812:p.Arg80Leu		B2R4U9|Q53FF3	Missense_Mutation	SNP	ENST00000245812.3	hg19	CCDS12163.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121815	0.56613	.	.	ENSG00000125652	ENST00000245812	T	0.13778	2.56	4.66	3.62	0.41486	.	0.393786	0.28062	N	0.016752	T	0.09291	0.0229	L	0.34521	1.04	0.28251	N	0.925264	P	0.40970	0.734	B	0.39904	0.313	T	0.10428	-1.0630	10	0.30078	T	0.28	-20.618	5.3379	0.15967	0.2546:0.0:0.7454:0.0	.	80	Q9BT30	ALKB7_HUMAN	L	80	ENSP00000245812:R80L	ENSP00000245812:R80L	R	+	2	0	ALKBH7	6325248	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.920000	0.48844	2.590000	0.87494	0.555000	0.69702	CGC		0.657	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453036.1	NM_032306		T	6374248	G	T	6374248	3	4	302	1	0	0	0	0	1	0	0	0	532	1087	38	4	245	4	ALKBH7	19	6374248	Missense_Mutation	SNP	G	TCGA-B9-A5W7-01A-11D-A31X-10		6374248	52754735	8	18028											
GRIK5	2901	hgsc.bcm.edu	37	19	42525580	42525580	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A5W7-01A-11D-A31X-10	TCGA-B9-A5W7-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	04439867-bb35-44ec-aedd-2cd6183e9b6c	9ef148bd-57c7-41bb-98f3-cb473f34b1ab	g.chr19:42525580G>A	ENST00000262895.3	-	14	1743	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C	GRIK5_ENST00000301218.4_Missense_Mutation_p.R582C|GRIK5_ENST00000593562.1_Missense_Mutation_p.R582C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	582					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R582C(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				ATGTGGGGGCGTGCCCGCAGG	0.652																																																2	Substitution - Missense(2)	prostate(2)											35	29	31					19																	42525580		2203	4300	6503	SO:0001583	missense	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1744C>T	chr19.hg19:g.42525580G>A	ENSP00000262895:p.Arg582Cys		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	hg19	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194809	0.58017	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.14022	2.59;2.54	4.51	4.51	0.55191	Ionotropic glutamate receptor (2);	0.153806	0.42821	D	0.000644	T	0.24353	0.0590	L	0.32530	0.975	0.45621	D	0.99855	D	0.89917	1.0	D	0.70016	0.967	T	0.01114	-1.1447	10	0.62326	D	0.03	.	11.8849	0.52596	0.0:0.0:0.8248:0.1752	.	582	Q16478	GRIK5_HUMAN	C	582	ENSP00000262895:R582C;ENSP00000301218:R582C	ENSP00000262895:R582C	R	-	1	0	GRIK5	47217420	0.846000	0.29590	0.903000	0.35520	0.645000	0.38454	1.338000	0.33873	2.055000	0.61198	0.563000	0.77884	CGC		0.652	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			A	42525580	G	A	42525580	3	1	302	1	0	0	0	0	1	0	0	0	6779	1145	40	1	1222	1	GRIK5	19	42525580	Missense_Mutation	SNP	G	TCGA-B9-A5W7-01A-11D-A31X-10	36151332	42525580	16603403	9	18029											
PBX1	5087	hgsc.bcm.edu	37	1	164761953	164761953	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr1:164761953C>T	ENST00000420696.2	+	3	676	c.488C>T	c.(487-489)aCg>aTg	p.T163M	PBX1_ENST00000540236.1_Missense_Mutation_p.T163M|PBX1_ENST00000559240.1_Missense_Mutation_p.T163M|PBX1_ENST00000540246.1_Missense_Mutation_p.T58M|PBX1_ENST00000367897.1_Missense_Mutation_p.T163M|PBX1_ENST00000560641.1_Missense_Mutation_p.T58M|PBX1_ENST00000401534.1_Missense_Mutation_p.T163M	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	163					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATCTACCATACGGAGCTGGAG	0.577			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																		Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"L, M"	0													27	31	30					1																	164761953		2202	4300	6502	SO:0001583	missense	5087			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.488C>T	chr1.hg19:g.164761953C>T	ENSP00000405890:p.Thr163Met		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	hg19	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709033	0.89018	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.23	5.23	0.72850	PBX (1);	0.000000	0.85682	D	0.000000	T	0.43144	0.1234	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.65815	0.995;0.994;0.993;0.994;0.994	P;P;P;D;P	0.64877	0.738;0.806;0.852;0.93;0.82	T	0.39643	-0.9604	10	0.72032	D	0.01	-9.5716	18.3959	0.90497	0.0:1.0:0.0:0.0	.	58;163;163;163;163	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	M	163;163;163;163;163;58	ENSP00000341455:T163M;ENSP00000405890:T163M;ENSP00000356872:T163M;ENSP00000439943:T163M;ENSP00000384856:T163M;ENSP00000440869:T58M	ENSP00000341455:T163M	T	+	2	0	PBX1	163028577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.376000	0.79658	2.405000	0.81733	0.563000	0.77884	ACG		0.577	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		T	164761953	C	T	164761953	3	4	303	1	0	0	0	0	1	0	0	0	11494	536	19	1	498	1	PBX1	1	164761953	Missense_Mutation	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10		164761953	84488668	1	18030											
SUSD4	55061	hgsc.bcm.edu	37	1	223438095	223438095	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr1:223438095G>A	ENST00000343846.3	-	4	1234	c.601C>T	c.(601-603)Ccg>Tcg	p.P201S	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.P41S|SUSD4_ENST00000484758.2_Missense_Mutation_p.P130S|SUSD4_ENST00000344029.6_Missense_Mutation_p.P201S|SUSD4_ENST00000494793.2_Missense_Mutation_p.P201S|SUSD4_ENST00000366878.4_Missense_Mutation_p.P201S			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	201	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTCCCCACCGGGAAGGAGGTC	0.498																																																0													85	91	89					1																	223438095		2203	4300	6503	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.601C>T	chr1.hg19:g.223438095G>A	ENSP00000344219:p.Pro201Ser		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	hg19	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775431	0.49786	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695;ENST00000344029	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.32	4.38	0.52667	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.47093	D	0.000255	T	0.58764	0.2145	N	0.20685	0.6	0.80722	D	1	B;D;P	0.71674	0.426;0.998;0.626	B;D;B	0.80764	0.329;0.994;0.432	T	0.56890	-0.7904	10	0.05721	T	0.95	-16.3711	10.3108	0.43708	0.0756:0.1375:0.7869:0.0	.	130;201;201	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	S	201;201;130;41;201	ENSP00000344219:P201S;ENSP00000355843:P201S;ENSP00000399288:P41S;ENSP00000339926:P201S	ENSP00000344219:P201S	P	-	1	0	SUSD4	221504718	1.000000	0.71417	0.997000	0.53966	0.827000	0.46813	4.506000	0.60428	1.415000	0.47037	0.491000	0.48974	CCG		0.498	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		A	223438095	G	A	223438095	3	1	303	1	0	0	0	0	1	0	0	0	15415	1232	43	2	1044	2	SUSD4	1	223438095	Missense_Mutation	SNP	G	TCGA-B9-A5W8-01A-11D-A28G-10	58676142	223438095	25812526	2	18031											
NEUROD1	4760	hgsc.bcm.edu	37	2	182543048	182543051	+	Frame_Shift_Del	DEL	GGTG	GGTG	-	rs565522208		TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	GGTG	GGTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr2:182543048_182543051delGGTG	ENST00000295108.3	-	2	994_997	c.537_540delCACC	c.(535-540)cccaccfs	p.PT179fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	179					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CCAGGTTGGTGGTGGGTTGGGATA	0.598																																																0																																										SO:0001589	frameshift_variant	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.537_540delCACC	chr2.hg19:g.182543048_182543051delGGTG	ENSP00000295108:p.Pro179fs		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Del	DEL	ENST00000295108.3	hg19	CCDS2283.1																																																																																				0.598	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		-	182543051	GGTG	-	182543048	7	5	303	1	0	1	0	1	0	0	0	0	10350	1335	47	0	534	0	NEUROD1	2	182543048	Frame_Shift_Del	DEL	GGTG	TCGA-B9-A5W8-01A-11D-A28G-10		182543048	60656325	3	18032											
GIGYF2	26058	hgsc.bcm.edu	37	2	233651899	233651899	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr2:233651899G>C	ENST00000409547.1	+	11	883	c.572G>C	c.(571-573)gGg>gCg	p.G191A	GIGYF2_ENST00000409451.3_Missense_Mutation_p.G213A|GIGYF2_ENST00000373566.3_Missense_Mutation_p.G213A|GIGYF2_ENST00000452341.2_Missense_Mutation_p.G22A|GIGYF2_ENST00000409196.3_Missense_Mutation_p.G191A|GIGYF2_ENST00000409480.1_Missense_Mutation_p.G213A|GIGYF2_ENST00000373563.4_Missense_Mutation_p.G191A	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	191	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACATCAGTAGGGAGAAAGCAT	0.403																																																0													104	106	106					2																	233651899		2203	4300	6503	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.572G>C	chr2.hg19:g.233651899G>C	ENSP00000386537:p.Gly191Ala		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	hg19	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498686	0.64298	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	T;T;T;T;T;T;T;T;T;T	0.78364	-0.69;-0.69;-0.69;-0.69;-1.02;-0.7;-0.69;-0.82;-1.17;-0.89	5.63	5.63	0.86233	.	0.192608	0.46442	D	0.000288	D	0.86247	0.5887	L	0.57536	1.79	0.36437	D	0.865276	D;D;P;D	0.76494	0.999;0.982;0.953;0.989	D;P;B;P	0.75484	0.986;0.898;0.371;0.874	D	0.84937	0.0863	10	0.29301	T	0.29	-24.5013	20.0345	0.97552	0.0:0.0:1.0:0.0	.	22;213;191;191	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	A	213;140;191;213;191;191;140;191;213;191;22;22;18	ENSP00000362667:G213A;ENSP00000362664:G191A;ENSP00000386765:G213A;ENSP00000386537:G191A;ENSP00000404195:G140A;ENSP00000387070:G191A;ENSP00000387170:G213A;ENSP00000410297:G191A;ENSP00000392218:G22A;ENSP00000411505:G22A	ENSP00000362664:G191A	G	+	2	0	GIGYF2	233360143	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.552000	0.67281	2.797000	0.96272	0.655000	0.94253	GGG		0.403	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		C	233651899	G	C	233651899	3	2	303	1	0	0	0	0	1	0	0	0	6380	1232	43	4	668	4	GIGYF2	2	233651899	Missense_Mutation	SNP	G	TCGA-B9-A5W8-01A-11D-A28G-10	51108851	233651899	9547474	4	18033											
NUP210	23225	hgsc.bcm.edu	37	3	13438880	13438880	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr3:13438880T>C	ENST00000254508.5	-	3	495	c.413A>G	c.(412-414)aAg>aGg	p.K138R		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	138					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGCCTGGATCTTCAGCTCCAG	0.602																																																0													67	63	64					3																	13438880		2203	4300	6503	SO:0001583	missense	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.413A>G	chr3.hg19:g.13438880T>C	ENSP00000254508:p.Lys138Arg		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	hg19	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	T	5.986	0.365927	0.11352	.	.	ENSG00000132182	ENST00000254508	T	0.04758	3.56	3.96	2.77	0.32553	.	0.049223	0.85682	D	0.000000	T	0.03608	0.0103	L	0.33137	0.985	0.43203	D	0.995057	B	0.31817	0.341	B	0.31245	0.126	T	0.39099	-0.9630	10	0.07325	T	0.83	-12.7074	9.9009	0.41346	0.0:0.0:0.172:0.8279	.	138	Q8TEM1	PO210_HUMAN	R	138	ENSP00000254508:K138R	ENSP00000254508:K138R	K	-	2	0	NUP210	13413880	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.196000	0.42686	0.680000	0.31366	0.454000	0.30748	AAG		0.602	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		C	13438880	T	C	13438880	3	2	303	1	0	0	0	0	1	0	0	0	10762	1609	56	3	5402	3	NUP210	3	13438880	Missense_Mutation	SNP	T	TCGA-B9-A5W8-01A-11D-A28G-10		13438880	184583550	5	18034											
RBM5	10181	hgsc.bcm.edu	37	3	50147868	50147868	+	Silent	SNP	T	T	C			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr3:50147868T>C	ENST00000347869.3	+	16	1510	c.1335T>C	c.(1333-1335)ccT>ccC	p.P445P	RBM5_ENST00000441812.2_Intron	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	445	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGCTTCCCCTACTGGTGTAG	0.458																																																0													54	58	56					3																	50147868		2203	4300	6503	SO:0001819	synonymous_variant	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1335T>C	chr3.hg19:g.50147868T>C			B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Silent	SNP	ENST00000347869.3	hg19	CCDS2810.1																																																																																				0.458	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		C	50147868	T	C	50147868	2	2	303	1	0	0	0	0	0	0	0	1	13149	1509	53	3		3	RBM5	3	50147868	Silent	SNP	T	TCGA-B9-A5W8-01A-11D-A28G-10	36708988	50147868	147874562	6	18035											
GOLIM4	27333	hgsc.bcm.edu	37	3	167747034	167747034	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr3:167747034T>C	ENST00000470487.1	-	11	2179	c.1490A>G	c.(1489-1491)cAg>cGg	p.Q497R	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q469R	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	497	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGATTCCCTGGTCCTCTGC	0.383																																																0													133	116	122					3																	167747034		2203	4300	6503	SO:0001583	missense	27333			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"golgi phosphoprotein 4"	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1490A>G	chr3.hg19:g.167747034T>C	ENSP00000417354:p.Gln497Arg			Missense_Mutation	SNP	ENST00000470487.1	hg19	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305022	0.60305	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.97	4.97	0.65823	.	0.242984	0.44097	D	0.000487	T	0.69575	0.3126	M	0.74881	2.28	0.43029	D	0.994599	D;D	0.64830	0.994;0.989	D;P	0.67103	0.949;0.814	T	0.68405	-0.5417	9	0.09590	T	0.72	-18.1647	11.9183	0.52778	0.0:0.0:0.1451:0.8549	.	469;497	F8W785;O00461	.;GOLI4_HUMAN	R	497;469	.	ENSP00000309893:Q469R	Q	-	2	0	GOLIM4	169229728	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.279000	0.58953	1.884000	0.54569	0.449000	0.29647	CAG		0.383	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			C	167747034	T	C	167747034	3	2	303	1	0	0	0	0	1	0	0	0	6568	1580	55	3	624	3	GOLIM4	3	167747034	Missense_Mutation	SNP	T	TCGA-B9-A5W8-01A-11D-A28G-10	117599166	167747034	30275396	7	18036											
APBB2	323	hgsc.bcm.edu	37	4	40818110	40818110	+	Nonstop_Mutation	SNP	T	T	A			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr4:40818110T>A	ENST00000295974.8	-	18	2905	c.2276A>T	c.(2275-2277)tAg>tTg	p.*759L	APBB2_ENST00000506352.1_Nonstop_Mutation_p.*738L|APBB2_ENST00000508593.1_Nonstop_Mutation_p.*760L|APBB2_ENST00000513140.1_Nonstop_Mutation_p.*737L|APBB2_ENST00000502841.1_Nonstop_Mutation_p.*211L|APBB2_ENST00000543538.1_Nonstop_Mutation_p.*211L|APBB2_ENST00000504305.1_Nonstop_Mutation_p.*211L|RP11-632F7.3_ENST00000513127.1_RNA	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	0					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CATGTGCAGCTATGGCATTTC	0.458																																					Ovarian(3;20 75 16686 49997)											0													255	249	251					4																	40818110		1979	4157	6136	SO:0001578	stop_lost	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.2276A>T	chr4.hg19:g.40818110T>A			B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	hg19	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614383	0.46631	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3812	0.74658	0.0:0.0:0.0:1.0	.	.	.	.	L	759;758;211;737;760;211;738;211	.	.	X	-	2	0	APBB2	40512867	1.000000	0.71417	0.936000	0.37596	0.073000	0.16967	8.000000	0.88501	2.040000	0.60383	0.477000	0.44152	TAG		0.458	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		A	40818110	T	A	40818110	4	1	303	1	0	0	0	0	0	0	0	0	761	1535	53	5	4	5	APBB2	4	40818110	Nonstop_Mutation	SNP	T	TCGA-B9-A5W8-01A-11D-A28G-10		40818110	150336166	8	18037											
FRYL	285527	hgsc.bcm.edu	37	4	48536646	48536646	+	Silent	SNP	A	A	G			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr4:48536646A>G	ENST00000503238.1	-	46	6620	c.6621T>C	c.(6619-6621)agT>agC	p.S2207S	FRYL_ENST00000537810.1_Silent_p.S2207S|FRYL_ENST00000358350.4_Silent_p.S2207S|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	2207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GACTCAATAGACTATAAATAA	0.333																																																0													76	72	73					4																	48536646		1829	4086	5915	SO:0001819	synonymous_variant	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6621T>C	chr4.hg19:g.48536646A>G			O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	hg19	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	0.350	-0.945182	0.02304	.	.	ENSG00000075539	ENST00000514617	T	0.12879	2.64	5.57	-1.09	0.09904	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02844	-1.1103	7	0.35671	T	0.21	.	10.974	0.47454	0.529:0.0:0.471:0.0	.	.	.	.	P	1077	ENSP00000425344:S1077P	ENSP00000425344:S1077P	S	-	1	0	FRYL	48231403	1.000000	0.71417	0.766000	0.31476	0.006000	0.05464	1.028000	0.30128	0.032000	0.15435	-0.256000	0.11100	TCT		0.333	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			G	48536646	A	G	48536646	2	3	303	1	0	0	0	0	0	0	0	1	6066	272	10	3		3	FRYL	4	48536646	Silent	SNP	A	TCGA-B9-A5W8-01A-11D-A28G-10	7718536	48536646	142617630	9	18038											
PDLIM4	8572	hgsc.bcm.edu	37	5	131602211	131602211	+	Silent	SNP	C	C	T			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr5:131602211C>T	ENST00000253754.3	+	3	364	c.300C>T	c.(298-300)caC>caT	p.H100H	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Silent_p.H100H	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	100							zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAGGCACACAGGATCCACA	0.592																																																0													93	69	77					5																	131602211		2203	4300	6503	SO:0001819	synonymous_variant	8572			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.300C>T	chr5.hg19:g.131602211C>T			B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Silent	SNP	ENST00000253754.3	hg19	CCDS4152.1																																																																																				0.592	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		T	131602211	C	T	131602211	2	4	303	1	0	0	0	0	0	0	0	1	11684	477	17	2		2	PDLIM4	5	131602211	Silent	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10		131602211	49313049	10	18039											
SLC22A4	6583	hgsc.bcm.edu	37	5	131647952	131647952	+	Silent	SNP	A	A	C			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr5:131647952A>C	ENST00000200652.3	+	2	666	c.492A>C	c.(490-492)tcA>tcC	p.S164S	SLC22A4_ENST00000491257.1_3'UTR|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	164					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	GGCAGCTGTCAGACAGGTAAG	0.572																																																0													132	107	116					5																	131647952		2203	4300	6503	SO:0001819	synonymous_variant	6583			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.492A>C	chr5.hg19:g.131647952A>C			O14546	Silent	SNP	ENST00000200652.3	hg19	CCDS4153.1																																																																																				0.572	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		C	131647952	A	C	131647952	2	2	303	1	0	0	0	0	0	0	0	1	14462	175	7	5		5	SLC22A4	5	131647952	Silent	SNP	A	TCGA-B9-A5W8-01A-11D-A28G-10	45741	131647952	49267308	11	18040											
TIFAB	140947	hgsc.bcm.edu	37	5	134785315	134785315	+	5'Flank	SNP	G	G	C			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr5:134785315G>C	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Silent_p.V105V|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGAGAAGGAGACCCTGTTGA	0.577																																																0													101	104	103					5																	134785315		2082	4221	6303	SO:0001631	upstream_gene_variant	497189																															chr5.hg19:g.134785315G>C	Exception_encountered			Silent	SNP	ENST00000503143.2	hg19	CCDS4186.1																																																																																				0.577	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			C	134785315	G	C	134785315	1	2	303	0	1	0	0	0	0	0	0	0	15900	929	33	4		4	TIFAB	5	134785315	5'Flank	SNP	G	TCGA-B9-A5W8-01A-11D-A28G-10	3137363	134785315	46129945	12	18041											
GABRA6	2559	hgsc.bcm.edu	37	5	161116041	161116041	+	Silent	SNP	T	T	C			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr5:161116041T>C	ENST00000274545.5	+	4	745	c.312T>C	c.(310-312)aaT>aaC	p.N104N	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Silent_p.N94N			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	104					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGAGTCTGAATAATTTGATGG	0.403										TCGA Ovarian(5;0.080)																																						0													76	77	77					5																	161116041		2203	4299	6502	SO:0001819	synonymous_variant	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.312T>C	chr5.hg19:g.161116041T>C			A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	hg19	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	T	8.919	0.960604	0.18583	.	.	ENSG00000145863	ENST00000520000	.	.	.	5.65	2.01	0.26516	.	.	.	.	.	T	0.54581	0.1867	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45571	-0.9252	4	.	.	.	.	6.8819	0.24179	0.0:0.4395:0.0:0.5605	.	.	.	.	T	44	.	.	I	+	2	0	GABRA6	161048619	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.646000	0.46630	0.507000	0.28148	-0.274000	0.10170	ATA		0.403	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			C	161116041	T	C	161116041	2	2	303	1	0	0	0	0	0	0	0	1	6167	1403	49	3		3	GABRA6	5	161116041	Silent	SNP	T	TCGA-B9-A5W8-01A-11D-A28G-10	26330726	161116041	19799219	13	18042											
DTNBP1	84062	hgsc.bcm.edu	37	6	15523339	15523339	+	Missense_Mutation	SNP	C	C	G	rs374085686		TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr6:15523339C>G	ENST00000344537.5	-	10	1095	c.923G>C	c.(922-924)cGg>cCg	p.R308P	DTNBP1_ENST00000462989.2_Missense_Mutation_p.R152P|DTNBP1_ENST00000355917.3_Missense_Mutation_p.R309P	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	308	Dysbindin.				actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			ACTGATGTCCCGGGTGGCCGA	0.567									Hermansky-Pudlak syndrome																																							0													137	142	141					6																	15523339		2203	4300	6503	SO:0001583	missense	84062	Familial Cancer Database	HPS, HPS1-8	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"Biogenesis of lysosomal organelles complex-1 subunits"	17328	protein-coding gene	gene with protein product	"dysbindin-1", "biogenesis of lysosomal organelles complex-1, subunit 8"	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.923G>C	chr6.hg19:g.15523339C>G	ENSP00000341680:p.Arg308Pro		A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	hg19	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.710179	0.30322	.	.	ENSG00000047579	ENST00000344537;ENST00000462989;ENST00000355917;ENST00000397306;ENST00000509674	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.62	-7.93	0.01156	.	1.163890	0.06365	N	0.712440	T	0.01558	0.0050	N	0.01297	-0.9	0.19300	N	0.999978	B	0.02656	0.0	B	0.08055	0.003	T	0.27331	-1.0077	10	0.08179	T	0.78	-9.2314	4.2873	0.10862	0.0902:0.1668:0.4361:0.307	.	308	Q96EV8	DTBP1_HUMAN	P	308;152;309;227;125	ENSP00000341680:R308P;ENSP00000427239:R152P;ENSP00000348183:R309P;ENSP00000421797:R125P	ENSP00000341680:R308P	R	-	2	0	DTNBP1	15631318	0.501000	0.26099	0.000000	0.03702	0.022000	0.10575	0.142000	0.16096	-2.293000	0.00664	-0.254000	0.11334	CGG		0.567	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		G	15523339	C	G	15523339	3	3	303	1	0	0	0	0	1	0	0	0	4792	652	23	4	136	4	DTNBP1	6	15523339	Missense_Mutation	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10		15523339	155591728	14	18043											
HIST1H2AL	8332	hgsc.bcm.edu	37	6	27833355	27833357	+	In_Frame_Del	DEL	AAG	AAG	-	rs376667817		TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr6:27833355_27833357delAAG	ENST00000357320.2	+	1	322_324	c.223_225delAAG	c.(223-225)aagdel	p.K76del		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	76						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CCGCGACAACAAGAAGACCCGCA	0.665																																																0																																										SO:0001651	inframe_deletion	8332			X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"Histones / Replication-dependent"	4730	protein-coding gene	gene with protein product		602793	"H2A histone family, member I", "histone 1, H2al"	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.223_225delAAG	chr6.hg19:g.27833358_27833360delAAG	ENSP00000349873:p.Lys76del		P02261|Q2M1R2|Q76PA6	In_Frame_Del	DEL	ENST00000357320.2	hg19	CCDS4634.1																																																																																				0.665	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		-	27833357	AAG	-	27833355	7	5	303	1	0	1	0	1	0	0	0	0	7140	131	5	0	225	0	HIST1H2AL	6	27833355	In_Frame_Del	DEL	AAG	TCGA-B9-A5W8-01A-11D-A28G-10	12310016	27833355	143281712	15	18044											
HIST1H3J	8356	hgsc.bcm.edu	37	6	27858516	27858516	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr6:27858516T>G	ENST00000359303.2	-	1	54	c.55A>C	c.(55-57)Aag>Cag	p.K19Q	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	19					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GCCAGCTGCTTCCGCGGTGCC	0.617																																																0													29	33	31					6																	27858516		2203	4299	6502	SO:0001583	missense	8356			Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"Histones / Replication-dependent"	4774	protein-coding gene	gene with protein product		602817	"H3 histone family, member J", "histone 1, H3j"	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.55A>C	chr6.hg19:g.27858516T>G	ENSP00000352252:p.Lys19Gln		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	hg19	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572970	0.45798	.	.	ENSG00000197153	ENST00000359303	T	0.48522	0.81	4.06	4.06	0.47325	.	.	.	.	.	T	0.52224	0.1721	.	.	.	0.42070	D	0.991202	.	.	.	.	.	.	T	0.59316	-0.7477	6	0.87932	D	0	.	12.8321	0.57752	0.0:0.0:0.0:1.0	.	.	.	.	Q	19	ENSP00000352252:K19Q	ENSP00000352252:K19Q	K	-	1	0	HIST1H3J	27966495	1.000000	0.71417	0.997000	0.53966	0.747000	0.42532	7.496000	0.81526	2.071000	0.62044	0.533000	0.62120	AAG		0.617	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		G	27858516	T	G	27858516	3	3	303	1	0	0	0	0	1	0	0	0	7166	1792	62	5	359	5	HIST1H3J	6	27858516	Missense_Mutation	SNP	T	TCGA-B9-A5W8-01A-11D-A28G-10	25161	27858516	143256551	16	18045											
DNAJB9	4189	hgsc.bcm.edu	37	7	108212287	108212287	+	Silent	SNP	G	G	A			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr7:108212287G>A	ENST00000249356.3	+	2	663	c.117G>A	c.(115-117)gaG>gaA	p.E39E	THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000438865.1_5'Flank|THAP5_ENST00000415914.3_5'Flank|DNAJB9_ENST00000465725.1_3'UTR|THAP5_ENST00000313516.5_5'Flank	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	39	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						CGGCATCAGAGCGCCAAATCA	0.403																																																0													107	116	113					7																	108212287		2203	4300	6503	SO:0001819	synonymous_variant	4189			AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.117G>A	chr7.hg19:g.108212287G>A				Silent	SNP	ENST00000249356.3	hg19	CCDS5752.1																																																																																				0.403	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			A	108212287	G	A	108212287	2	1	303	1	0	0	0	0	0	0	0	1	4629	962	34	2		2	DNAJB9	7	108212287	Silent	SNP	G	TCGA-B9-A5W8-01A-11D-A28G-10		108212287	50926376	17	18046											
MLL3	58508	hgsc.bcm.edu	37	7	151859497	151859497	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr7:151859497delT	ENST00000262189.6	-	43	11383	c.11165delA	c.(11164-11166)aagfs	p.K3722fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.K3722fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3722					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGTCTCAGCCTTTTCCAGTTT	0.468																																																0													178	182	181					7																	151859497		2203	4300	6503	SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11165delA	chr7.hg19:g.151859497delT	ENSP00000262189:p.Lys3722fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	hg19	CCDS5931.1																																																																																				0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	151859497	T	-	151859497	7	5	303	1	0	1	0	1	0	0	0	0	9624	1609	56	0	3638	0	MLL3	7	151859497	Frame_Shift_Del	DEL	T	TCGA-B9-A5W8-01A-11D-A28G-10	43647210	151859497	7279166	18	18047											
FAM83H	286077	hgsc.bcm.edu	37	8	144809730	144809730	+	Missense_Mutation	SNP	G	G	C	rs367877690	byFrequency	TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr8:144809730G>C	ENST00000388913.3	-	5	2026	c.1901C>G	c.(1900-1902)gCa>gGa	p.A634G		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	634					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGGAAGGCTGCTGGGACGCG	0.751													G|||	5	0.000998403	0.0038	0.0	5008	,	,		9374	0.0		0.0	False		,,,				2504	0.0															0								G	GLY/ALA	5,3093		0,5,1544	6	8	7		1901	0.6	0	8		7	0,7130		0,0,3565	no	missense	FAM83H	NM_198488.3	60	0,5,5109	CC,CG,GG		0.0,0.1614,0.0489	benign	634/1180	144809730	5,10223	1549	3565	5114	SO:0001583	missense	286077			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1901C>G	chr8.hg19:g.144809730G>C	ENSP00000373565:p.Ala634Gly		A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	hg19	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.474564	0.01044	0.001614	0.0	ENSG00000180921	ENST00000388913	T	0.14516	2.5	3.85	0.608	0.17569	.	16.316900	0.01476	U	0.016496	T	0.08980	0.0222	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27054	-1.0085	10	0.20519	T	0.43	.	5.3436	0.15996	0.2787:0.3057:0.4156:0.0	.	634	Q6ZRV2	FA83H_HUMAN	G	634	ENSP00000373565:A634G	ENSP00000373565:A634G	A	-	2	0	FAM83H	144881718	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	0.100000	0.15231	0.258000	0.21686	0.561000	0.74099	GCA		0.751	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		C	144809730	G	C	144809730	3	2	303	1	0	0	0	0	1	0	0	0	5642	1319	46	4	1642	4	FAM83H	8	144809730	Missense_Mutation	SNP	G	TCGA-B9-A5W8-01A-11D-A28G-10		144809730	1554292	19	18048											
PLEC	5339	hgsc.bcm.edu	37	8	145001217	145001217	+	Silent	SNP	C	C	T	rs374669316		TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr8:145001217C>T	ENST00000322810.4	-	29	4453	c.4284G>A	c.(4282-4284)gcG>gcA	p.A1428A	PLEC_ENST00000398774.2_Silent_p.A1259A|PLEC_ENST00000436759.2_Silent_p.A1318A|PLEC_ENST00000356346.3_Silent_p.A1277A|PLEC_ENST00000357649.2_Silent_p.A1295A|PLEC_ENST00000345136.3_Silent_p.A1291A|PLEC_ENST00000354958.2_Silent_p.A1269A|PLEC_ENST00000354589.3_Silent_p.A1291A|PLEC_ENST00000527096.1_Silent_p.A1314A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1428	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCAAGCTGCGCCTTGTACG	0.637																																																0								C	,,,,,,,	1,4183		0,1,2091	58	63	62		3954,3831,3807,4284,3777,3873,3885,3873	-9.9	0.3	8		62	0,8434		0,0,4217	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,1,6308	TT,TC,CC		0.0,0.0239,0.0079	,,,,,,,	1318/4575,1277/4534,1269/4526,1428/4685,1259/4516,1291/4548,1295/4552,1291/4548	145001217	1,12617	2092	4217	6309	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4284G>A	chr8.hg19:g.145001217C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	hg19	CCDS43772.1																																																																																				0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	145001217	C	T	145001217	2	4	303	1	0	0	0	0	0	0	0	1	12054	755	27	1		1	PLEC	8	145001217	Silent	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10	191487	145001217	1362805	20	18049											
CDKN2A	1029	hgsc.bcm.edu	37	9	21971184	21971184	+	Silent	SNP	T	T	G	rs201208890	byFrequency	TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr9:21971184T>G	ENST00000304494.5	-	2	444	c.174A>C	c.(172-174)cgA>cgC	p.R58R	CDKN2A_ENST00000579122.1_Silent_p.R58R|CDKN2A_ENST00000579755.1_Missense_Mutation_p.S73R|CDKN2A_ENST00000479692.2_Silent_p.R7R|CDKN2A_ENST00000494262.1_Silent_p.R7R|CDKN2A_ENST00000530628.2_Missense_Mutation_p.S73R|CDKN2A_ENST00000578845.2_Silent_p.R7R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Silent_p.R7R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.S114R|CDKN2A_ENST00000498628.2_Silent_p.R7R|CDKN2A_ENST00000446177.1_Silent_p.R58R|CDKN2A_ENST00000498124.1_Silent_p.R58R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.R58fs*59(2)|p.V59fs*82(2)|p.0(1)|p.V28_V51del(1)|p.V59fs*63(1)|p.V59fs*61(1)|p.V59fs*60(1)|p.G55fs*86(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCTCCGCCACTCGGGCGCTGC	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			G|||	15	0.00299521	0.0113	0.0	5008	,	,		11788	0.0		0.0	False		,,,				2504	0.0															1374	Whole gene deletion(1316)|Unknown(45)|Deletion - Frameshift(7)|Deletion - In frame(4)|Insertion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(285)|skin(176)|central_nervous_system(167)|lung(145)|urinary_tract(92)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(55)|oesophagus(52)|pleura(51)|ovary(37)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)						G	,,,ARG/SER	25,4025		0,25,2000	7	9	8		174,174,,217	-4.5	0	9		8	0,8162		0,0,4081	no	coding-synonymous,coding-synonymous,utr-3,missense	CDKN2A	NM_000077.4,NM_001195132.1,NM_058197.4,NM_058195.3	,,,110	0,25,6081	GG,GT,TT		0.0,0.6173,0.2047	,,,benign	58/157,58/168,,73/133	21971184	25,12187	2025	4081	6106	SO:0001819	synonymous_variant	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.174A>C	chr9.hg19:g.21971184T>G			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	hg19	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	6.483	0.457206	0.12342	0.006173	0.0	ENSG00000147889	ENST00000361570;ENST00000530628	T;T	0.76186	-1.0;-0.95	5.79	-4.48	0.03515	.	0.576553	0.14595	N	0.309984	T	0.41789	0.1174	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	8	.	.	.	-3.0019	5.0452	0.14480	0.1174:0.1641:0.1404:0.5781	.	114	Q8N726	CD2A2_HUMAN	R	114;73	ENSP00000355153:S114R;ENSP00000432664:S73R	.	S	-	1	0	CDKN2A	21961184	0.000000	0.05858	0.001000	0.08648	0.194000	0.23727	-2.443000	0.01013	-1.206000	0.02641	-2.190000	0.00312	AGT		0.682	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		G	21971184	T	G	21971184	2	3	303	1	0	0	0	0	0	0	0	1	3163	1551	54	5		5	CDKN2A	9	21971184	Silent	SNP	T	TCGA-B9-A5W8-01A-11D-A28G-10		21971184	119242247	21	18050											
GLYATL2	219970	hgsc.bcm.edu	37	11	58601915	58601915	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr11:58601915T>C	ENST00000287275.1	-	6	1262	c.872A>G	c.(871-873)aAg>aGg	p.K291R	GLYATL2_ENST00000532258.1_Missense_Mutation_p.K291R|GLYATL2_ENST00000533636.1_5'Flank	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	291						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ACAATATTTCTTGGGGGTGCA	0.363																																																0													53	49	50					11																	58601915		1831	4083	5914	SO:0001583	missense	219970			AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.872A>G	chr11.hg19:g.58601915T>C	ENSP00000287275:p.Lys291Arg		A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	hg19	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	T	7.457	0.643799	0.14451	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.14640	2.49;2.49	2.81	-1.38	0.09027	.	0.816947	0.10184	U	0.705518	T	0.08133	0.0203	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.39921	-0.9590	10	0.25106	T	0.35	.	3.0975	0.06314	0.0:0.2741:0.2254:0.5005	.	291	Q8WU03	GLYL2_HUMAN	R	291	ENSP00000287275:K291R;ENSP00000434277:K291R	ENSP00000287275:K291R	K	-	2	0	GLYATL2	58358491	0.008000	0.16893	0.022000	0.16811	0.453000	0.32348	0.974000	0.29436	-0.398000	0.07679	-1.222000	0.01597	AAG		0.363	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		C	58601915	T	C	58601915	3	2	303	1	0	0	0	0	1	0	0	0	6483	1609	56	3	16	3	GLYATL2	11	58601915	Missense_Mutation	SNP	T	TCGA-B9-A5W8-01A-11D-A28G-10		58601915	76404601	22	18051											
MAML2	84441	hgsc.bcm.edu	37	11	95825395	95825395	+	Silent	SNP	C	C	T			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr11:95825395C>T	ENST00000524717.1	-	2	3084	c.1800G>A	c.(1798-1800)caG>caA	p.Q600Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	600					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgctgct	0.537			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													21	29	26					11																	95825395		1989	3928	5917	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1800G>A	chr11.hg19:g.95825395C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	hg19	CCDS44714.1																																																																																				0.537	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825395	C	T	95825395	2	4	303	1	0	0	0	0	0	0	0	1	9208	796	28	2		2	MAML2	11	95825395	Silent	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10	37223480	95825395	39181121	23	18052											
CD163L1	283316	hgsc.bcm.edu	37	12	7526001	7526001	+	Silent	SNP	C	C	T	rs368002565		TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr12:7526001C>T	ENST00000313599.3	-	14	3702	c.3645G>A	c.(3643-3645)acG>acA	p.T1215T	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000396630.1_Silent_p.T1215T|CD163L1_ENST00000416109.2_Silent_p.T1225T			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1215	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGGAGATATGCGTTTTAGGAC	0.527																																																0								T		0,4406		0,0,2203	148	120	129		3645	-4.5	0	12		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CD163L1	NM_174941.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1215/1454	7526001	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3645G>A	chr12.hg19:g.7526001C>T			B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	hg19	CCDS8577.1																																																																																				0.527	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		T	7526001	C	T	7526001	2	4	303	1	0	0	0	0	0	0	0	1	2970	755	27	1		1	CD163L1	12	7526001	Silent	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10		7526001	126325894	24	18053											
SLC38A4	55089	hgsc.bcm.edu	37	12	47170779	47170779	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr12:47170779C>T	ENST00000447411.1	-	12	1288	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	SLC38A4_ENST00000266579.4_Missense_Mutation_p.R361Q	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	361					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CATTTTTCTCCGGGACCGACT	0.358																																																0													87	88	88					12																	47170779		2203	4299	6502	SO:0001583	missense	55089			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1082G>A	chr12.hg19:g.47170779C>T	ENSP00000389843:p.Arg361Gln		A8K553	Missense_Mutation	SNP	ENST00000447411.1	hg19	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479698	0.26511	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02158	4.42;4.42	5.96	3.18	0.36537	.	0.116259	0.64402	N	0.000017	T	0.03871	0.0109	L	0.49640	1.575	0.45607	D	0.998544	B	0.24258	0.1	B	0.33890	0.172	T	0.41288	-0.9517	10	0.17369	T	0.5	-4.6085	15.3035	0.73972	0.0:0.872:0.0:0.128	.	361	Q969I6	S38A4_HUMAN	Q	361	ENSP00000389843:R361Q;ENSP00000266579:R361Q	ENSP00000266579:R361Q	R	-	2	0	SLC38A4	45457046	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	1.399000	0.34566	0.425000	0.26087	-0.940000	0.02684	CGG		0.358	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			T	47170779	C	T	47170779	3	4	303	1	0	0	0	0	1	0	0	0	14612	652	23	1	581	1	SLC38A4	12	47170779	Missense_Mutation	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10	39644778	47170779	86681116	25	18054											
METTL7A	25840	hgsc.bcm.edu	37	12	51319010	51319030	+	In_Frame_Del	DEL	GGAGTTTGCGGGCCCCTCCGG	GGAGTTTGCGGGCCCCTCCGG	-	rs142438796		TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	GGAGTTTGCGGGCCCCTCCGG	GGAGTTTGCGGGCCCCTCCGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr12:51319010_51319030delGGAGTTTGCGGGCCCCTCCGG	ENST00000548553.1	+	2	1170_1190	c.189_209delGGAGTTTGCGGGCCCCTCCGG	c.(187-210)caggagtttgcgggcccctccggg>cag	p.EFAGPSG64del	METTL7A_ENST00000332160.4_In_Frame_Del_p.EFAGPSG64del			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	64						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)	p.A66V(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						GTAACCTGCAGGAGTTTGCGGGCCCCTCCGGGAAACTCTCC	0.543																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	25840				CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.189_209delGGAGTTTGCGGGCCCCTCCGG	chr12.hg19:g.51319010_51319030delGGAGTTTGCGGGCCCCTCCGG	ENSP00000448785:p.Glu64_Gly70del		Q9H7R3|Q9UHZ7|Q9Y422	In_Frame_Del	DEL	ENST00000548553.1	hg19	CCDS8804.1																																																																																				0.543	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033		-	51319030	GGAGTTTGCGGGCCCCTCCGG	-	51319010	7	5	303	1	0	1	0	1	0	0	0	0	9507	991	35	0	191	0	METTL7A	12	51319010	In_Frame_Del	DEL	GGAGTTTGCGGGCCCCTCCGG	TCGA-B9-A5W8-01A-11D-A28G-10	4148231	51319010	82532885	26	18055											
XPOT	11260	hgsc.bcm.edu	37	12	64808728	64808728	+	Silent	SNP	C	C	A			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr12:64808728C>A	ENST00000332707.5	+	3	631	c.102C>A	c.(100-102)gcC>gcA	p.A34A		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	34	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CCCCAGATGCCTGGCAGGTGT	0.388																																																0													91	97	95					12																	64808728		2203	4300	6503	SO:0001819	synonymous_variant	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.102C>A	chr12.hg19:g.64808728C>A			A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	hg19	CCDS31852.1																																																																																				0.388	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		A	64808728	C	A	64808728	2	1	303	1	0	0	0	0	0	0	0	1	17455	668	24	4		4	XPOT	12	64808728	Silent	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10	13489718	64808728	69043167	27	18056											
TMCC3	57458	hgsc.bcm.edu	37	12	94975986	94975987	+	Frame_Shift_Ins	INS	-	-	A	rs530422400		TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr12:94975986_94975987insA	ENST00000261226.4	-	2	537_538	c.406_407insT	c.(406-408)tatfs	p.Y136fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.Y105fs	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	136						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTTTCGATGATACTGCTCTAAC	0.475																																																0																																										SO:0001589	frameshift_variant	57458			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.407dupT	chr12.hg19:g.94975987_94975987dupA	ENSP00000261226:p.Tyr136fs		Q8IWB2	Frame_Shift_Ins	INS	ENST00000261226.4	hg19	CCDS31877.1																																																																																				0.475	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		A	94975987	-	A	94975986	7	5	303	1	0	1	1	0	0	0	0	0	15999	1406	49	0	1038	0	TMCC3	12	94975986	Frame_Shift_Ins	INS	-	TCGA-B9-A5W8-01A-11D-A28G-10	30167258	94975986	38875909	28	18057											
METAP2	84101	hgsc.bcm.edu	37	12	95907438	95907438	+	IGR	SNP	A	A	G			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr12:95907438A>G	ENST00000258499.3	-	0	4022				METAP2_ENST00000261220.9_Missense_Mutation_p.T376A|METAP2_ENST00000546753.1_Missense_Mutation_p.T376A|METAP2_ENST00000323666.5_Missense_Mutation_p.T399A|METAP2_ENST00000551840.1_Missense_Mutation_p.T398A|METAP2_ENST00000550777.1_Missense_Mutation_p.T363A	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GCTTCCAAGAACAAAACACTT	0.418																																																0													84	82	83					12																	95907438		2203	4300	6503	SO:0001628	intergenic_variant	10988			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7			chr12.hg19:g.95907438A>G			B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	hg19	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	A	2.554	-0.303387	0.05495	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	.	.	.	5.83	2.17	0.27698	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (2);	0.135470	0.64402	N	0.000002	T	0.03220	0.0094	N	0.00003	-3.5	0.39326	D	0.96532	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0	T	0.40194	-0.9576	9	0.02654	T	1	-9.0542	6.8846	0.24193	0.3929:0.0:0.6071:0.0	.	376;363;376;398;399	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	A	399;376;376;363;398	.	ENSP00000261220:T376A	T	+	1	0	METAP2	94431569	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.393000	0.59665	0.466000	0.27193	0.533000	0.62120	ACA		0.418	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		G	95907438	A	G	95907438	1	3	303	0	1	0	0	0	0	0	0	0	9489	43	2	3		3	METAP2	12	95907438	IGR	SNP	A	TCGA-B9-A5W8-01A-11D-A28G-10	931452	95907438	37944457	29	18058											
RFC5	5985	hgsc.bcm.edu	37	12	118462664	118462664	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr12:118462664delA	ENST00000454402.2	+	6	548	c.430delA	c.(430-432)aaafs	p.K144fs	RFC5_ENST00000229043.3_Frame_Shift_Del_p.K59fs|RFC5_ENST00000392542.2_Frame_Shift_Del_p.K123fs	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	144					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTAATTGAGAAATTCACAGA	0.428																																																0													75	81	79					12																	118462664		2203	4300	6503	SO:0001589	frameshift_variant	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.430delA	chr12.hg19:g.118462664delA	ENSP00000408295:p.Lys144fs		A8MZ62|B3KSX8	Frame_Shift_Del	DEL	ENST00000454402.2	hg19	CCDS9185.1																																																																																				0.428	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		-	118462664	A	-	118462664	7	5	303	1	0	1	0	1	0	0	0	0	13254	247	9	0	458	0	RFC5	12	118462664	Frame_Shift_Del	DEL	A	TCGA-B9-A5W8-01A-11D-A28G-10	22555226	118462664	15389231	30	18059											
LRRC16B	90668	hgsc.bcm.edu	37	14	24528535	24528547	+	Frame_Shift_Del	DEL	CATCAATGCCCTG	CATCAATGCCCTG	-			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	CATCAATGCCCTG	CATCAATGCCCTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr14:24528535_24528547delCATCAATGCCCTG	ENST00000342740.5	+	21	1837_1849	c.1683_1695delCATCAATGCCCTG	c.(1681-1695)ctcatcaatgccctgfs	p.LINAL561fs	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	561						cytoplasm (GO:0005737)		p.N563D(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCAGCATCCTCATCAATGCCCTGGGCAGCAACA	0.62																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1683_1695delCATCAATGCCCTG	chr14.hg19:g.24528535_24528547delCATCAATGCCCTG	ENSP00000340467:p.Leu561fs		Q8TEF7|Q96HS9	Frame_Shift_Del	DEL	ENST00000342740.5	hg19	CCDS32054.1																																																																																				0.62	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		-	24528547	CATCAATGCCCTG	-	24528535	7	5	303	1	0	1	0	1	0	0	0	0	8974	813	29	0	1765	0	LRRC16B	14	24528535	Frame_Shift_Del	DEL	CATCAATGCCCTG	TCGA-B9-A5W8-01A-11D-A28G-10		24528535	82821005	31	18060											
KBTBD13	390594	hgsc.bcm.edu	37	15	65369367	65369367	+	Silent	SNP	C	C	T	rs550537101	byFrequency	TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr15:65369367C>T	ENST00000432196.2	+	1	214	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CCGGCCGGCGCTGGCGGCGGA	0.736													C|||	10	0.00199681	0.0068	0.0014	5008	,	,		9554	0.0		0.0	False		,,,				2504	0.0															0													2	2	2					15																	65369367		1202	2816	4018	SO:0001819	synonymous_variant	390594				CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.214C>T	chr15.hg19:g.65369367C>T				Silent	SNP	ENST00000432196.2	hg19	CCDS45281.1																																																																																				0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		T	65369367	C	T	65369367	2	4	303	1	0	0	0	0	0	0	0	1	7994	796	28	2		2	KBTBD13	15	65369367	Silent	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10		65369367	37162025	32	18061											
CDR2	1039	hgsc.bcm.edu	37	16	22358803	22358803	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr16:22358803A>G	ENST00000268383.2	-	5	1155	c.848T>C	c.(847-849)tTc>tCc	p.F283S		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	283						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		GGGCTCTTTGAAAGGAACATA	0.532																																																0													38	39	39					16																	22358803		2197	4300	6497	SO:0001583	missense	1039			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.848T>C	chr16.hg19:g.22358803A>G	ENSP00000268383:p.Phe283Ser		A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	hg19	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	A	3.865	-0.029069	0.07589	.	.	ENSG00000140743	ENST00000268383	T	0.41065	1.01	5.79	4.68	0.58851	.	0.159588	0.56097	D	0.000023	T	0.29093	0.0723	L	0.27053	0.805	0.38438	D	0.946635	B	0.23185	0.081	B	0.20577	0.03	T	0.09100	-1.0690	10	0.15952	T	0.53	-9.0507	13.0653	0.59030	0.8657:0.1343:0.0:0.0	.	283	Q01850	CDR2_HUMAN	S	283	ENSP00000268383:F283S	ENSP00000268383:F283S	F	-	2	0	CDR2	22266304	0.890000	0.30428	0.599000	0.28851	0.617000	0.37484	3.322000	0.52007	0.991000	0.38814	0.533000	0.62120	TTC		0.532	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			G	22358803	A	G	22358803	3	3	303	1	0	0	0	0	1	0	0	0	3174	246	9	3	520	3	CDR2	16	22358803	Missense_Mutation	SNP	A	TCGA-B9-A5W8-01A-11D-A28G-10		22358803	67995950	33	18062											
ZNF629	23361	hgsc.bcm.edu	37	16	30794425	30794425	+	Silent	SNP	G	G	A			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr16:30794425G>A	ENST00000262525.4	-	3	1431	c.1224C>T	c.(1222-1224)ggC>ggT	p.G408G	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TGAAGCTCTTGCCGCACTCTG	0.652																																																0													47	51	49					16																	30794425		2197	4300	6497	SO:0001819	synonymous_variant	23361			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1224C>T	chr16.hg19:g.30794425G>A			Q15938	Silent	SNP	ENST00000262525.4	hg19	CCDS45463.1																																																																																				0.652	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		A	30794425	G	A	30794425	2	1	303	1	0	0	0	0	0	0	0	1	18058	1306	46	2		2	ZNF629	16	30794425	Silent	SNP	G	TCGA-B9-A5W8-01A-11D-A28G-10	8435622	30794425	59560328	34	18063											
OSGIN1	29948	hgsc.bcm.edu	37	16	83994295	83994295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr16:83994295G>A	ENST00000343939.2	+	5	958	c.575G>A	c.(574-576)tGg>tAg	p.W192*	OSGIN1_ENST00000393306.1_Nonsense_Mutation_p.W109*|OSGIN1_ENST00000565123.1_Nonsense_Mutation_p.W109*|OSGIN1_ENST00000361711.3_Nonsense_Mutation_p.W109*			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	192					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GTCCTCACCTGGAAGCACCGG	0.652																																																0													61	60	60					16																	83994295		2200	4300	6500	SO:0001587	stop_gained	29948			AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.575G>A	chr16.hg19:g.83994295G>A	ENSP00000343376:p.Trp192*		Q52M33|Q86UQ1|Q96S88|Q9BZ70	Nonsense_Mutation	SNP	ENST00000343939.2	hg19		.	.	.	.	.	.	.	.	.	.	G	38	7.081125	0.98051	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1195	16.9387	0.86210	0.0:0.0:1.0:0.0	.	.	.	.	X	192;109;109	.	ENSP00000343376:W192X	W	+	2	0	OSGIN1	82551796	1.000000	0.71417	0.998000	0.56505	0.495000	0.33615	5.463000	0.66712	2.228000	0.72767	0.491000	0.48974	TGG		0.652	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		A	83994295	G	A	83994295	4	1	303	1	0	0	0	0	0	1	0	0	11291	1357	47	2	593	2	OSGIN1	16	83994295	Nonsense_Mutation	SNP	G	TCGA-B9-A5W8-01A-11D-A28G-10	53199870	83994295	6360458	35	18064											
MTHFSD	64779	hgsc.bcm.edu	37	16	86565821	86565821	+	Silent	SNP	G	G	A			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr16:86565821G>A	ENST00000360900.6	-	8	973	c.948C>T	c.(946-948)gaC>gaT	p.D316D	MTHFSD_ENST00000381214.5_Silent_p.D316D|MTHFSD_ENST00000546093.1_Silent_p.D153D|MTHFSD_ENST00000543303.2_Silent_p.D315D|MTHFSD_ENST00000322911.6_Silent_p.D315D	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	316	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TCACACGGGCGTCCCCGGGGA	0.682																																																0													11	14	13					16																	86565821		1876	4097	5973	SO:0001819	synonymous_variant	64779			AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.948C>T	chr16.hg19:g.86565821G>A			A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	hg19	CCDS54047.1																																																																																				0.682	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		A	86565821	G	A	86565821	2	1	303	1	0	0	0	0	0	0	0	1	9935	1136	40	1		1	MTHFSD	16	86565821	Silent	SNP	G	TCGA-B9-A5W8-01A-11D-A28G-10	2571526	86565821	3788932	36	18065											
ACSF2	80221	hgsc.bcm.edu	37	17	48541577	48541577	+	Splice_Site	SNP	A	A	G			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr17:48541577A>G	ENST00000300441.4	+	10	1242		c.e10-1		ACSF2_ENST00000502667.1_Splice_Site|ACSF2_ENST00000427954.2_Splice_Site|ACSF2_ENST00000541920.1_Splice_Site|ACSF2_ENST00000504392.1_Splice_Site	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2						fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCTCTGATTCAGGTGTCATTG	0.547																																																0													130	117	121					17																	48541577		2203	4300	6503	SO:0001630	splice_region_variant	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1139-1A>G	chr17.hg19:g.48541577A>G			B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Splice_Site	SNP	ENST00000300441.4	hg19	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562393	0.65538	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.256	0.66053	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSF2	45896576	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.372000	0.79612	2.016000	0.59253	0.533000	0.62120	.		0.547	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149	Intron	G	48541577	A	G	48541577	5	3	303	1	0	0	0	0	0	0	1	0	175	202	7	3	1175	3	ACSF2	17	48541577	Splice_Site	SNP	A	TCGA-B9-A5W8-01A-11D-A28G-10		48541577	32653633	37	18066											
SMARCA4	6597	hgsc.bcm.edu	37	19	11134286	11134286	+	Silent	SNP	C	C	G	rs371276213		TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr19:11134286C>G	ENST00000429416.3	+	21	3233	c.2952C>G	c.(2950-2952)gtC>gtG	p.V984V	SMARCA4_ENST00000344626.4_Silent_p.V984V|SMARCA4_ENST00000589677.1_Silent_p.V984V|SMARCA4_ENST00000413806.3_Silent_p.V984V|SMARCA4_ENST00000590574.1_Silent_p.V984V|SMARCA4_ENST00000444061.3_Silent_p.V984V|SMARCA4_ENST00000358026.2_Silent_p.V984V|SMARCA4_ENST00000541122.2_Silent_p.V984V|SMARCA4_ENST00000450717.3_Silent_p.V984V	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	984					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGAAGGAAGTCGAGGCCCAGT	0.597			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											46	42	44					19																	11134286		2202	4300	6502	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2952C>G	chr19.hg19:g.11134286C>G			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	hg19	CCDS12253.1																																																																																				0.597	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		G	11134286	C	G	11134286	2	3	303	1	0	0	0	0	0	0	0	1	14776	871	31	4		4	SMARCA4	19	11134286	Silent	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10		11134286	47994697	38	18067											
NCCRP1	342897	hgsc.bcm.edu	37	19	39687743	39687743	+	Silent	SNP	C	C	T			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr19:39687743C>T	ENST00000339852.4	+	1	143	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	41	Pro-rich.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						gccgccaccactgccctcgcc	0.776																																					Melanoma(107;1207 1556 14956 29427 52130)											0													2	3	3					19																	39687743		1158	2257	3415	SO:0001819	synonymous_variant	342897			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.121C>T	chr19.hg19:g.39687743C>T			Q6NVV5	Silent	SNP	ENST00000339852.4	hg19	CCDS12529.1																																																																																				0.776	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		T	39687743	C	T	39687743	2	4	303	1	0	0	0	0	0	0	0	1	10215	564	20	2		2	NCCRP1	19	39687743	Silent	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10	28553457	39687743	19441240	39	18068											
ZNF225	7768	hgsc.bcm.edu	37	19	44636876	44636889	+	Stop_Codon_Del	DEL	AAATGACACATAAC	AAATGACACATAAC	-	rs143348426	byFrequency	TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	AAATGACACATAAC	AAATGACACATAAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr19:44636876_44636889delAAATGACACATAAC	ENST00000262894.6	+	0	2389_2402				ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Stop_Codon_Del	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CAttatttttaaatgacacataactgttgtactc	0.355																																																0																																										SO:0001567	stop_retained_variant	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		Exception_encountered	chr19.hg19:g.44636876_44636889delAAATGACACATAAC	ENSP00000262894:p.*707Pheext*8		A8K8S2|Q53F12|Q9NS46|Q9UID8	Frame_Shift_Del	DEL	ENST00000262894.6	hg19	CCDS46100.1																																																																																				0.355	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			-	44636889	AAATGACACATAAC	-	44636876	7	5	303	1	0	1	0	1	0	0	0	0	17784	359	13	0	2123	0	ZNF225	19	44636876	Stop_Codon_Del	DEL	AAATGACACATAAC	TCGA-B9-A5W8-01A-11D-A28G-10	4949133	44636876	14492107	40	18069											
LILRB1	10859	hgsc.bcm.edu	37	19	55143956	55143956	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr19:55143956A>G	ENST00000396331.1	+	7	1060	c.703A>G	c.(703-705)Atc>Gtc	p.I235V	LILRB1_ENST00000448689.1_Missense_Mutation_p.I235V|LILRB1_ENST00000434867.2_Missense_Mutation_p.I235V|LILRB1_ENST00000418536.2_Missense_Mutation_p.I235V|LILRB1_ENST00000396327.3_Missense_Mutation_p.I235V|LILRB1_ENST00000396321.2_Missense_Mutation_p.I235V|LILRB1_ENST00000324602.7_Missense_Mutation_p.I235V|LILRB1_ENST00000396315.1_Missense_Mutation_p.I235V|LILRB1_ENST00000396332.4_Missense_Mutation_p.I235V|LILRB1_ENST00000396317.1_Missense_Mutation_p.I235V|LILRB1_ENST00000427581.2_Missense_Mutation_p.I271V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	235	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCAGGTCCTATCGTGGCCCC	0.537										HNSCC(37;0.09)																																						0													98	102	101					19																	55143956		2203	4300	6503	SO:0001583	missense	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.703A>G	chr19.hg19:g.55143956A>G	ENSP00000379622:p.Ile235Val		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	hg19	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.218786	0.00286	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87	1.49	-1.31	0.09230	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.873016	0.09637	N	0.775542	T	0.01592	0.0051	N	0.00219	-1.825	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.11329	0.001;0.001;0.006;0.001;0.002	T	0.39014	-0.9634	10	0.02654	T	1	.	2.0446	0.03557	0.3776:0.0:0.3682:0.2542	.	235;235;235;235;235	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	V	235;235;235;235;235;235;235;235;271;235;235	ENSP00000379614:I235V;ENSP00000391514:I235V;ENSP00000409968:I235V;ENSP00000379622:I235V;ENSP00000379618:I235V;ENSP00000315997:I235V;ENSP00000405243:I235V;ENSP00000379623:I235V;ENSP00000395004:I271V;ENSP00000379610:I235V;ENSP00000379608:I235V	ENSP00000315997:I235V	I	+	1	0	LILRB1	59835768	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.930000	0.03972	-0.750000	0.04740	-1.160000	0.01791	ATC		0.537	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			G	55143956	A	G	55143956	3	3	303	1	0	0	0	0	1	0	0	0	8792	449	16	3	721	3	LILRB1	19	55143956	Missense_Mutation	SNP	A	TCGA-B9-A5W8-01A-11D-A28G-10	10507080	55143956	3985027	41	18070											
HNF4A	3172	hgsc.bcm.edu	37	20	42984469	42984469	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr20:42984469G>T	ENST00000316673.4	+	1	130	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	HNF4A_ENST00000609795.1_Missense_Mutation_p.G9W|RP5-881L22.5_ENST00000438702.1_RNA|HNF4A_ENST00000457232.1_Missense_Mutation_p.G9W			P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	157					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G9W(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCGCCCCTCGGGGCTCCAGT	0.682																																					Colon(79;2 1269 8820 14841 52347)											1	Substitution - Missense(1)	lung(1)											24	28	26					20																	42984469		2037	4184	6221	SO:0001583	missense	3172			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316673.4:c.25G>T	chr20.hg19:g.42984469G>T	ENSP00000315180:p.Gly9Trp		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316673.4	hg19	CCDS42876.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213853	0.39102	.	.	ENSG00000101076	ENST00000316673;ENST00000457232	D;D	0.92595	-3.07;-3.06	4.98	3.04	0.35103	.	.	.	.	.	D	0.91099	0.7198	N	0.24115	0.695	0.80722	D	1	D;D;P	0.71674	0.998;0.998;0.948	D;D;P	0.70227	0.93;0.968;0.759	D	0.89491	0.3757	9	0.72032	D	0.01	.	7.9382	0.29941	0.1907:0.0:0.8093:0.0	.	9;9;9	F1D8T0;P41235-6;P41235-7	.;.;.	W	9	ENSP00000315180:G9W;ENSP00000396216:G9W	ENSP00000315180:G9W	G	+	1	0	HNF4A	42417883	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.571000	0.45990	0.635000	0.30488	-0.136000	0.14681	GGG		0.682	HNF4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079362.2			T	42984469	G	T	42984469	3	4	303	1	0	0	0	0	1	0	0	0	7255	1116	39	4	27	4	HNF4A	20	42984469	Missense_Mutation	SNP	G	TCGA-B9-A5W8-01A-11D-A28G-10		42984469	20041051	42	18071											
GGT5	2687	hgsc.bcm.edu	37	22	24628898	24628898	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr22:24628898G>C	ENST00000327365.4	-	4	905	c.489C>G	c.(487-489)ttC>ttG	p.F163L	GGT5_ENST00000398292.3_Missense_Mutation_p.F163L|GGT5_ENST00000418439.2_Missense_Mutation_p.P88A|GGT5_ENST00000263112.7_Missense_Mutation_p.F131L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	163					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGTGGGCTGGAACAGCTGCG	0.701																																																0													23	25	24					22																	24628898		2184	4285	6469	SO:0001583	missense	2687			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.489C>G	chr22.hg19:g.24628898G>C	ENSP00000330080:p.Phe163Leu		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	hg19	CCDS13825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.533985|4.533985	0.85812|0.85812	.|.	.|.	ENSG00000099998|ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292|ENST00000418439	T;T;T|T	0.03717|0.66638	3.83;3.83;3.83|-0.22	4.32|4.32	3.3|3.3	0.37823|0.37823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58264|0.58264	0.2110|0.2110	M|M	0.64997|0.64997	1.995|1.995	0.25198|0.25198	N|N	0.990074|0.990074	D;D;B;D|B	0.69078|0.25667	0.967;0.997;0.095;0.997|0.131	P;D;B;D|B	0.67900|0.25140	0.775;0.954;0.129;0.954|0.058	T|T	0.45469|0.45469	-0.9259|-0.9259	10|9	0.72032|0.17369	D|T	0.01|0.5	-37.4629|-37.4629	6.7667|6.7667	0.23571|0.23571	0.2119:0.0:0.7881:0.0|0.2119:0.0:0.7881:0.0	.|.	131;163;163;163|88	P36269-2;Q53XM9;Q6GMP0;P36269|E7EUG3	.;.;.;GGT5_HUMAN|.	L|A	163;131;78;163|88	ENSP00000330080:F163L;ENSP00000263112:F131L;ENSP00000381340:F163L|ENSP00000392146:P88A	ENSP00000263112:F131L|ENSP00000392146:P88A	F|P	-|-	3|1	2|0	GGT5|GGT5	22958898|22958898	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.180000|1.180000	0.32005|0.32005	1.170000|1.170000	0.42753|0.42753	0.585000|0.585000	0.79938|0.79938	TTC|CCA		0.701	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		C	24628898	G	C	24628898	3	2	303	1	0	0	0	0	1	0	0	0	6364	1165	41	4	1310	4	GGT5	22	24628898	Missense_Mutation	SNP	G	TCGA-B9-A5W8-01A-11D-A28G-10		24628898	26675668	43	18072											
NEFH	4744	hgsc.bcm.edu	37	22	29885571	29885572	+	In_Frame_Ins	INS	-	-	CCCCTGAGAAGGCCAAGT			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chr22:29885571_29885572insCCCCTGAGAAGGCCAAGT	ENST00000310624.6	+	4	1975_1976	c.1942_1943insCCCCTGAGAAGGCCAAGT	c.(1942-1944)tcc>tCCCCTGAGAAGGCCAAGTcc	p.648_648S>SPEKAKS		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	654	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GGAAGCAAAGTCCCCTGAGAAG	0.569																																																0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1943_1960dupCCCCTGAGAAGGCCAAGT	chr22.hg19:g.29885571_29885572insCCCCTGAGAAGGCCAAGT	Exception_encountered		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	hg19	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		CCCCTGAGAAGGCCAAGT	29885572	-	CCCCTGAGAAGGCCAAGT	29885571	7	5	303	1	0	1	1	0	0	0	0	0	10316	1667	58	0	1956	0	NEFH	22	29885571	In_Frame_Ins	INS	-	TCGA-B9-A5W8-01A-11D-A28G-10	5256673	29885571	21418995	44	18073											
TCEANC	170082	hgsc.bcm.edu	37	X	13680806	13680808	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chrX:13680806_13680808delCCT	ENST00000380600.1	+	2	266_268	c.179_181delCCT	c.(178-183)ccctct>cct	p.S61del	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000545566.1_In_Frame_Del_p.S61del|TCEANC_ENST00000314720.4_In_Frame_Del_p.S91del|TCEANC_ENST00000544987.1_In_Frame_Del_p.S61del			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	61	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AAAAACTGCCCCTCTGTGGCTTT	0.443																																																0																																										SO:0001651	inframe_deletion	170082				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.179_181delCCT	chrX.hg19:g.13680806_13680808delCCT	ENSP00000369974:p.Ser61del		A6NI06|B2RDM3	In_Frame_Del	DEL	ENST00000380600.1	hg19																																																																																					0.443	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634		-	13680808	CCT	-	13680806	7	5	303	1	0	1	0	1	0	0	0	0	15683	623	22	0	275	0	TCEANC	23	13680806	In_Frame_Del	DEL	CCT	TCGA-B9-A5W8-01A-11D-A28G-10		13680806	141589754	45	18074											
SH3KBP1	30011	hgsc.bcm.edu	37	X	19560042	19560043	+	Splice_Site	INS	-	-	T			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chrX:19560042_19560043insT	ENST00000397821.3	-	16	2182_2183		c.e16+1		SH3KBP1_ENST00000541422.1_Splice_Site|SH3KBP1_ENST00000379698.4_Splice_Site|SH3KBP1_ENST00000379716.1_Splice_Site	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1						apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CAGGCACTCACTTCTGCTGGTC	0.634																																																0																																										SO:0001630	splice_region_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1892+1->A	chrX.hg19:g.19560044_19560044dupT			B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Splice_Site	INS	ENST00000397821.3	hg19	CCDS14193.1																																																																																				0.634	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892	Intron	T	19560043	-	T	19560042	8	5	303	1	0	1	1	0	0	0	1	0	14261	579	20	0	116	0	SH3KBP1	23	19560042	Splice_Site	INS	-	TCGA-B9-A5W8-01A-11D-A28G-10	5879236	19560042	135710518	46	18075	142	2									
SH3KBP1	30011	hgsc.bcm.edu	37	X	19560045	19560045	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chrX:19560045C>A	ENST00000397821.3	-	16	2180	c.1890G>T	c.(1888-1890)caG>caT	p.Q630H	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.Q369H|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.Q593H|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.Q392H	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	630					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GCACTCACTTCTGCTGGTCCT	0.627																																																0													106	96	100					X																	19560045		2203	4300	6503	SO:0001583	missense	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1890G>T	chrX.hg19:g.19560045C>A	ENSP00000380921:p.Gln630His		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	hg19	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	3.308	-0.141521	0.06669	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.39	4.41	0.53225	.	0.000000	0.64402	D	0.000010	T	0.30541	0.0768	N	0.12887	0.27	0.37413	D	0.9133	D;B;D	0.89917	1.0;0.156;0.997	D;B;D	0.85130	0.997;0.031;0.99	T	0.44050	-0.9353	10	0.02654	T	1	-14.024	6.2238	0.20695	0.0:0.7735:0.0:0.2265	.	392;630;593	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	H	615;630;392;593;369;610	ENSP00000380921:Q630H;ENSP00000369039:Q392H;ENSP00000369020:Q593H;ENSP00000442499:Q369H;ENSP00000369049:Q610H	ENSP00000369020:Q593H	Q	-	3	2	SH3KBP1	19469966	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.388000	0.34442	2.265000	0.75225	0.529000	0.55759	CAG		0.627	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		A	19560045	C	A	19560045	3	1	303	1	0	0	0	0	1	0	0	0	14261	912	32	4	119	4	SH3KBP1	23	19560045	Missense_Mutation	SNP	C	TCGA-B9-A5W8-01A-11D-A28G-10	3	19560045	135710515	47	18076	142	2									
TAF1	6872	hgsc.bcm.edu	37	X	70618524	70618524	+	Silent	SNP	G	G	A			TCGA-B9-A5W8-01A-11D-A28G-10	TCGA-B9-A5W8-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	28255a70-00c1-45b8-ad54-33a2def9c843	7d548692-a558-4aaa-b70f-8b2861f275ff	g.chrX:70618524G>A	ENST00000373790.4	+	24	3771	c.3720G>A	c.(3718-3720)aaG>aaA	p.K1240K	TAF1_ENST00000449580.1_Silent_p.K1240K|TAF1_ENST00000276072.3_Silent_p.K1261K|TAF1_ENST00000423759.1_Silent_p.K1261K	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1240					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACCAGGAAAAGGAGAAGCTTA	0.458																																																0													93	79	84					X																	70618524		2203	4300	6503	SO:0001819	synonymous_variant	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3720G>A	chrX.hg19:g.70618524G>A			A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	hg19	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	9.733	1.162842	0.21538	.	.	ENSG00000147133	ENST00000483985	.	.	.	5.54	3.77	0.43336	.	.	.	.	.	T	0.59074	0.2167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53129	-0.8482	4	.	.	.	.	9.3163	0.37937	0.2564:0.0:0.7436:0.0	.	.	.	.	K	151	.	.	R	+	2	0	TAF1	70535249	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.737000	0.26144	0.520000	0.28426	0.468000	0.43344	AGG		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		A	70618524	G	A	70618524	2	1	303	1	0	0	0	0	0	0	0	1	15518	991	35	2		2	TAF1	23	70618524	Silent	SNP	G	TCGA-B9-A5W8-01A-11D-A28G-10	51058479	70618524	84652036	48	18077											
C1orf128	57095	hgsc.bcm.edu	37	1	24105128	24105128	+	Silent	SNP	A	A	G	rs562148184		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:24105128A>G	ENST00000246151.4	+	1	234	c.123A>G	c.(121-123)caA>caG	p.Q41Q	RP5-886K2.3_ENST00000427796.1_RNA	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	41	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.					nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						AGCGGCTGCAATGCCTTAACG	0.751													G|||	1	0.000199681	0.0	0.0014	5008	,	,		6646	0.0		0.0	False		,,,				2504	0.0															0																																										SO:0001819	synonymous_variant	57095				CCDS240.1	1p36.11	2011-02-21	2011-02-21	2011-02-21	ENSG00000057757	ENSG00000057757			25022	protein-coding gene	gene with protein product	"TXNL1 C-terminal like"		"chromosome 1 open reading frame 128"	C1orf128		12477932	Standard	NM_020362		Approved	HT014, TXNL1CL	uc001bhq.3	Q9GZP4	OTTHUMG00000002960	ENST00000246151.4:c.123A>G	chr1.hg19:g.24105128A>G			B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8	Silent	SNP	ENST00000246151.4	hg19	CCDS240.1																																																																																				0.751	PITHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008243.1	NM_020362		G	24105128	A	G	24105128	2	3	304	1	0	0	0	0	0	0	0	1	1997	98	4	3		3	C1orf128	1	24105128	Silent	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10		24105128	225145493	1	18078											
HFM1	164045	hgsc.bcm.edu	37	1	91742587	91742587	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:91742587C>G	ENST00000370425.3	-	31	3522	c.3424G>C	c.(3424-3426)Gaa>Caa	p.E1142Q	HFM1_ENST00000370424.3_Missense_Mutation_p.E821Q|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.E374Q	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1142					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGATTGCATTCTCGGTTCCCA	0.289																																																0													129	128	129					1																	91742587		2203	4299	6502	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3424G>C	chr1.hg19:g.91742587C>G	ENSP00000359454:p.Glu1142Gln		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	hg19	CCDS30769.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.44|12.44|12.44	1.937796|1.937796|1.937796	0.34189|0.34189|0.34189	.|.|.	.|.|.	ENSG00000162669|ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424|ENST00000370421	.|T;T;T|.	.|0.64618|.	.|0.25;0.63;-0.11|.	5.71|5.71|5.71	5.71|5.71|5.71	0.89125|0.89125|0.89125	.|.|.	0.237508|0.237508|.	0.33005|0.33005|.	N|N|.	0.005389|0.005389|.	T|T|T	0.55481|0.55481|0.55481	0.1923|0.1923|0.1923	M|M|M	0.64997|0.64997|0.64997	1.995|1.995|1.995	0.36745|0.36745|0.36745	D|D|D	0.882419|0.882419|0.882419	.|B;B;B|.	.|0.28378|.	.|0.082;0.209;0.105|.	.|B;B;B|.	.|0.25614|.	.|0.045;0.062;0.034|.	T|T|T	0.59461|0.59461|0.59461	-0.7450|-0.7450|-0.7450	6|10|6	.|0.40728|0.42905	.|T|T	.|0.16|0.14	.|.|.	10.7947|10.7947|10.7947	0.46453|0.46453|0.46453	0.0:0.9137:0.0:0.0863|0.0:0.9137:0.0:0.0863|0.0:0.9137:0.0:0.0863	.|.|.	.|821;353;1142|.	.|A6NGI5;B1B0B5;A2PYH4|.	.|.;.;HFM1_HUMAN|.	D|Q|T	353|1142;374;821|825	.|ENSP00000359454:E1142Q;ENSP00000294696:E374Q;ENSP00000359453:E821Q|.	.|ENSP00000294696:E374Q|ENSP00000359450:R825T	E|E|R	-|-|-	3|1|2	2|0|0	HFM1|HFM1|HFM1	91515175|91515175|91515175	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.815000|0.815000|0.815000	0.46073|0.46073|0.46073	3.562000|3.562000|3.562000	0.53777|0.53777|0.53777	2.698000|2.698000|2.698000	0.92095|0.92095|0.92095	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAG|GAA|AGA		0.289	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		G	91742587	C	G	91742587	3	3	304	1	0	0	0	0	1	0	0	0	7085	922	32	4	919	4	HFM1	1	91742587	Missense_Mutation	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10	67637459	91742587	157508034	2	18079											
SLC44A3	126969	hgsc.bcm.edu	37	1	95330398	95330398	+	Silent	SNP	T	T	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:95330398T>A	ENST00000271227.6	+	11	1440	c.1338T>A	c.(1336-1338)tcT>tcA	p.S446S	SLC44A3_ENST00000446120.2_Silent_p.S410S|SLC44A3_ENST00000529450.1_Silent_p.S414S|SLC44A3_ENST00000527077.1_Silent_p.S378S|SLC44A3_ENST00000467909.1_Silent_p.S398S|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000532427.1_Silent_p.S366S	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	446					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTTTAATCTCTGTGGTGAGGA	0.433																																																0													217	202	207					1																	95330398		2203	4300	6503	SO:0001819	synonymous_variant	126969			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1338T>A	chr1.hg19:g.95330398T>A			B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Silent	SNP	ENST00000271227.6	hg19	CCDS44176.1																																																																																				0.433	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		A	95330398	T	A	95330398	2	1	304	1	0	0	0	0	0	0	0	1	14643	1567	55	5		5	SLC44A3	1	95330398	Silent	SNP	T	TCGA-B9-A5W9-01A-11D-A28G-10	3587811	95330398	153920223	3	18080											
DHX57	90957	hgsc.bcm.edu	37	2	39088916	39088916	+	Silent	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr2:39088916T>C	ENST00000295373.6	-	5	762	c.636A>G	c.(634-636)gcA>gcG	p.A212A	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	212	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GCTCTAGTGATGCTCCCACAT	0.448																																					Melanoma(191;1090 2095 4375 23729 47341)											0													84	79	81					2																	39088916		2203	4300	6503	SO:0001819	synonymous_variant	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.636A>G	chr2.hg19:g.39088916T>C			A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	hg19	CCDS1800.1																																																																																				0.448	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		C	39088916	T	C	39088916	2	2	304	1	0	0	0	0	0	0	0	1	4515	1451	51	3		3	DHX57	2	39088916	Silent	SNP	T	TCGA-B9-A5W9-01A-11D-A28G-10		39088916	204110457	4	18081											
NBEAL1	65065	hgsc.bcm.edu	37	2	204009565	204009566	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr2:204009565_204009566insT	ENST00000449802.1	+	31	5337_5338	c.5004_5005insT	c.(5005-5007)tttfs	p.F1669fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1669										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTAGCTCCTCATTTTTTGAAGA	0.317																																																0																																										SO:0001589	frameshift_variant	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5010dupT	chr2.hg19:g.204009571_204009571dupT	ENSP00000399903:p.Phe1669fs		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Ins	INS	ENST00000449802.1	hg19	CCDS46495.1																																																																																				0.317	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			T	204009566	-	T	204009565	7	5	304	1	0	1	1	0	0	0	0	0	10190	204	8	0	5122	0	NBEAL1	2	204009565	Frame_Shift_Ins	INS	-	TCGA-B9-A5W9-01A-11D-A28G-10	164920649	204009565	39189808	5	18082											
STK11IP	114790	hgsc.bcm.edu	37	2	220473931	220473931	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr2:220473931T>C	ENST00000456909.1	+	16	2012	c.1922T>C	c.(1921-1923)gTc>gCc	p.V641A	STK11IP_ENST00000295641.10_Missense_Mutation_p.V652A			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	652					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACGCAGCTGTCCAGGTGATG	0.662																																																0													23	22	23					2																	220473931		2018	4164	6182	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1922T>C	chr2.hg19:g.220473931T>C	ENSP00000389383:p.Val641Ala		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	hg19		.	.	.	.	.	.	.	.	.	.	T	12.88	2.071525	0.36566	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05025	3.51;3.51	5.0	-0.564	0.11774	.	1.280970	0.05320	N	0.526447	T	0.07683	0.0193	L	0.43152	1.355	0.20821	N	0.999844	B;B;B	0.14012	0.009;0.004;0.002	B;B;B	0.15484	0.013;0.003;0.006	T	0.43956	-0.9359	10	0.72032	D	0.01	-0.0971	8.4014	0.32588	0.0:0.3626:0.0:0.6374	.	620;652;652	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	A	641;620;652	ENSP00000389383:V641A;ENSP00000295641:V652A	ENSP00000295641:V652A	V	+	2	0	STK11IP	220182175	0.431000	0.25546	0.117000	0.21633	0.652000	0.38707	0.654000	0.24918	-0.222000	0.09958	-0.250000	0.11733	GTC		0.662	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		C	220473931	T	C	220473931	3	2	304	1	0	0	0	0	1	0	0	0	15293	1667	58	3	2017	3	STK11IP	2	220473931	Missense_Mutation	SNP	T	TCGA-B9-A5W9-01A-11D-A28G-10	16464366	220473931	22725442	6	18083											
DOCK3	1795	hgsc.bcm.edu	37	3	51393580	51393580	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:51393580delG	ENST00000266037.9	+	42	4333	c.4310delG	c.(4309-4311)aggfs	p.R1437fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1437	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGATGGATAGGGTACCAGAT	0.493																																																0													147	140	142					3																	51393580		1982	4180	6162	SO:0001589	frameshift_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4310delG	chr3.hg19:g.51393580delG	ENSP00000266037:p.Arg1437fs		O15017	Frame_Shift_Del	DEL	ENST00000266037.9	hg19	CCDS46835.1																																																																																				0.493	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		-	51393580	G	-	51393580	7	5	304	1	0	1	0	1	0	0	0	0	4690	1000	35	0	4476	0	DOCK3	3	51393580	Frame_Shift_Del	DEL	G	TCGA-B9-A5W9-01A-11D-A28G-10		51393580	146628850	7	18084											
ATXN7	6314	hgsc.bcm.edu	37	3	63983337	63983337	+	Intron	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:63983337C>T	ENST00000295900.6	+	12	3211				ATXN7_ENST00000398590.3_Missense_Mutation_p.T901I|ATXN7_ENST00000484332.1_Intron|ATXN7_ENST00000487717.1_Intron|ATXN7_ENST00000538065.1_Missense_Mutation_p.T901I	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7						cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ATTTCAGCAACATCACCCCAG	0.428																																																0													296	237	255					3																	63983337		692	1591	2283	SO:0001627	intron_variant	6314			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2661+1178C>T	chr3.hg19:g.63983337C>T			B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	hg19	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045840	0.36085	.	.	ENSG00000163635	ENST00000398590;ENST00000538065;ENST00000522345	T;T;T	0.51071	2.49;2.49;0.72	4.03	3.14	0.36123	.	0.628911	0.14004	N	0.347922	T	0.26159	0.0638	N	0.08118	0	0.22521	N	0.99903	B	0.12013	0.005	B	0.11329	0.006	T	0.15321	-1.0441	10	0.56958	D	0.05	0.0408	7.1588	0.25652	0.0:0.8751:0.0:0.1249	.	901	O15265-2	.	I	901;901;72	ENSP00000381590:T901I;ENSP00000439585:T901I;ENSP00000428067:T72I	ENSP00000381590:T901I	T	+	2	0	ATXN7	63958377	0.005000	0.15991	0.963000	0.40424	0.987000	0.75469	0.983000	0.29552	1.254000	0.44035	0.644000	0.83932	ACA		0.428	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		T	63983337	C	T	63983337	1	4	304	0	1	0	0	0	0	0	0	0	1215	478	17	2		2	ATXN7	3	63983337	Intron	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10	12589757	63983337	134039093	8	18085											
TOPBP1	11073	hgsc.bcm.edu	37	3	133331389	133331389	+	Silent	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:133331389C>T	ENST00000260810.5	-	24	4010	c.3879G>A	c.(3877-3879)ttG>ttA	p.L1293L		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1293	BRCT 7. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTCTATCACCAATCCACCTT	0.383								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)											0													50	48	49					3																	133331389		1904	4132	6036	SO:0001819	synonymous_variant	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3879G>A	chr3.hg19:g.133331389C>T			B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	hg19	CCDS46919.1																																																																																				0.383	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		T	133331389	C	T	133331389	2	4	304	1	0	0	0	0	0	0	0	1	16374	593	21	2		2	TOPBP1	3	133331389	Silent	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10	69348052	133331389	64691041	9	18086											
CLDN16	10686	hgsc.bcm.edu	37	3	190126252	190126252	+	Missense_Mutation	SNP	T	T	G	rs143316426	byFrequency	TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:190126252T>G	ENST00000264734.2	+	4	990	c.742T>G	c.(742-744)Ttg>Gtg	p.L248V	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	248					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GGGTTGCTTTTTGGCTGGAGC	0.393																																																0													142	138	140					3																	190126252		2203	4300	6503	SO:0001583	missense	10686			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.742T>G	chr3.hg19:g.190126252T>G	ENSP00000264734:p.Leu248Val			Missense_Mutation	SNP	ENST00000264734.2	hg19	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084809	0.36758	.	.	ENSG00000113946	ENST00000264734	D	0.89875	-2.58	5.6	3.12	0.35913	.	0.099830	0.43919	D	0.000514	D	0.82282	0.5003	L	0.39326	1.205	0.80722	D	1	P	0.42296	0.775	B	0.39660	0.306	T	0.78966	-0.1995	10	0.44086	T	0.13	-2.4464	8.0251	0.30431	0.0:0.0724:0.135:0.7926	.	248	Q9Y5I7	CLD16_HUMAN	V	248	ENSP00000264734:L248V	ENSP00000264734:L248V	L	+	1	2	CLDN16	191608946	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	1.133000	0.31430	0.909000	0.36697	0.455000	0.32223	TTG		0.393	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		G	190126252	T	G	190126252	3	3	304	1	0	0	0	0	1	0	0	0	3479	1838	64	5	756	5	CLDN16	3	190126252	Missense_Mutation	SNP	T	TCGA-B9-A5W9-01A-11D-A28G-10	56794863	190126252	7896178	10	18087											
PLK4	10733	hgsc.bcm.edu	37	4	128813596	128813596	+	Silent	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr4:128813596T>C	ENST00000270861.5	+	10	2389	c.2115T>C	c.(2113-2115)taT>taC	p.Y705Y	PLK4_ENST00000507249.1_Silent_p.Y644Y|PLK4_ENST00000515069.1_Silent_p.Y627Y|PLK4_ENST00000514379.1_Silent_p.Y664Y|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000513090.1_Silent_p.Y673Y	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	705					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAATCACTTATTTTACAAGAT	0.313																																					Colon(135;508 1718 19061 31832 42879)											0													121	116	118					4																	128813596		2202	4299	6501	SO:0001819	synonymous_variant	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2115T>C	chr4.hg19:g.128813596T>C			B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	hg19	CCDS3735.1																																																																																				0.313	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			C	128813596	T	C	128813596	2	2	304	1	0	0	0	0	0	0	0	1	12100	1500	52	3		3	PLK4	4	128813596	Silent	SNP	T	TCGA-B9-A5W9-01A-11D-A28G-10		128813596	62340680	11	18088											
CPE	1363	hgsc.bcm.edu	37	4	166300624	166300624	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr4:166300624A>C	ENST00000402744.4	+	1	531	c.251A>C	c.(250-252)gAg>gCg	p.E84A		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	84					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CGCAGCTTCGAGGGCCGGGAG	0.682																																																0													13	14	14					4																	166300624		2161	4236	6397	SO:0001583	missense	1363			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.251A>C	chr4.hg19:g.166300624A>C	ENSP00000386104:p.Glu84Ala		A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	hg19	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301811	0.81136	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.15372	2.43	4.1	4.1	0.47936	Peptidase M14, carboxypeptidase A (2);	0.098707	0.64402	D	0.000002	T	0.27697	0.0681	M	0.84082	2.675	0.58432	D	0.999999	B	0.24576	0.106	B	0.31245	0.126	T	0.14615	-1.0466	10	0.59425	D	0.04	-28.9098	12.8978	0.58109	1.0:0.0:0.0:0.0	.	84	P16870	CBPE_HUMAN	A	84;48	ENSP00000386104:E84A	ENSP00000261510:E48A	E	+	2	0	CPE	166520074	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.494000	0.73661	1.707000	0.51288	0.254000	0.18369	GAG		0.682	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		C	166300624	A	C	166300624	3	2	304	1	0	0	0	0	1	0	0	0	3801	304	11	5	253	5	CPE	4	166300624	Missense_Mutation	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10	37487028	166300624	24853652	12	18089											
HIGD2A	192286	hgsc.bcm.edu	37	5	175816407	175816407	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr5:175816407T>A	ENST00000274787.2	+	2	303	c.230T>A	c.(229-231)cTc>cAc	p.L77H	NOP16_ENST00000510123.1_5'Flank|NOP16_ENST00000389158.5_5'Flank|NOP16_ENST00000509257.1_5'Flank|NOP16_ENST00000507413.1_5'Flank	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	77	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				negative regulation of apoptotic process (GO:0043066)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CGCTCTCAGCTCATGATGCGC	0.647																																																0													67	74	71					5																	175816407		2203	4300	6503	SO:0001583	missense	192286			BC007502	CCDS4401.1	5q35.2	2009-03-17	2009-03-17		ENSG00000146066	ENSG00000146066			28311	protein-coding gene	gene with protein product			"HIG1 domain family, member 2A"			12477932	Standard	NM_138820		Approved	MGC2198	uc003meg.3	Q9BW72	OTTHUMG00000130657	ENST00000274787.2:c.230T>A	chr5.hg19:g.175816407T>A	ENSP00000274787:p.Leu77His			Missense_Mutation	SNP	ENST00000274787.2	hg19	CCDS4401.1	.	.	.	.	.	.	.	.	.	.	T	32	5.165072	0.94727	.	.	ENSG00000146066	ENST00000274787	.	.	.	5.89	5.89	0.94794	Hypoxia induced protein, domain (2);	0.244211	0.42548	D	0.000699	T	0.63965	0.2556	L	0.33710	1.025	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.57911	-0.7729	9	0.13853	T	0.58	-17.0539	16.3158	0.82923	0.0:0.0:0.0:1.0	.	77	Q9BW72	HIG2A_HUMAN	H	77	.	ENSP00000274787:L77H	L	+	2	0	HIGD2A	175749013	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.646000	0.83445	2.254000	0.74563	0.533000	0.62120	CTC		0.647	HIGD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253147.1	NM_138820		A	175816407	T	A	175816407	3	1	304	1	0	0	0	0	1	0	0	0	7111	1551	54	5	236	5	HIGD2A	5	175816407	Missense_Mutation	SNP	T	TCGA-B9-A5W9-01A-11D-A28G-10		175816407	5098853	13	18090											
UNC5A	90249	hgsc.bcm.edu	37	5	176300996	176300996	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr5:176300996T>G	ENST00000329542.4	+	7	1188	c.914T>G	c.(913-915)cTc>cGc	p.L305R	UNC5A_ENST00000261961.3_Missense_Mutation_p.L265R	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	305					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGTGGCCCTCTATGTGGGC	0.627																																																0													96	81	86					5																	176300996		2203	4300	6503	SO:0001583	missense	90249			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.914T>G	chr5.hg19:g.176300996T>G	ENSP00000332737:p.Leu305Arg		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	hg19	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.466120	0.84425	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.58506	0.33;0.68	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	T	0.74261	0.3693	M	0.69248	2.105	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.77603	-0.2526	10	0.87932	D	0	-27.0982	15.222	0.73320	0.0:0.0:0.0:1.0	.	265;305	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	R	305;265	ENSP00000332737:L305R;ENSP00000261961:L265R	ENSP00000261961:L265R	L	+	2	0	UNC5A	176233602	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.627000	0.83176	2.010000	0.58986	0.402000	0.26972	CTC		0.627	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		G	176300996	T	G	176300996	3	3	304	1	0	0	0	0	1	0	0	0	16996	1551	54	5	940	5	UNC5A	5	176300996	Missense_Mutation	SNP	T	TCGA-B9-A5W9-01A-11D-A28G-10	484589	176300996	4614264	14	18091											
TNFRSF21	27242	hgsc.bcm.edu	37	6	47254097	47254097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr6:47254097G>A	ENST00000296861.2	-	2	724	c.331C>T	c.(331-333)Cag>Tag	p.Q111*		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	111					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGGCATGGCTGACTACAGTCA	0.522																																																0													162	141	149					6																	47254097		2203	4300	6503	SO:0001587	stop_gained	27242			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.331C>T	chr6.hg19:g.47254097G>A	ENSP00000296861:p.Gln111*		B2RDI9|Q0D2P5|Q96D86	Nonsense_Mutation	SNP	ENST00000296861.2	hg19	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	39	7.562418	0.98361	.	.	ENSG00000146072	ENST00000296861	.	.	.	5.65	4.72	0.59763	.	0.399599	0.28612	N	0.014733	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	8.9938	0.36039	0.0:0.1192:0.6376:0.2432	.	.	.	.	X	111	.	ENSP00000296861:Q111X	Q	-	1	0	TNFRSF21	47362056	0.996000	0.38824	0.998000	0.56505	0.998000	0.95712	2.242000	0.43106	2.826000	0.97356	0.563000	0.77884	CAG		0.522	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		A	47254097	G	A	47254097	4	1	304	1	0	0	0	0	0	1	0	0	16300	1299	45	2	1656	2	TNFRSF21	6	47254097	Nonsense_Mutation	SNP	G	TCGA-B9-A5W9-01A-11D-A28G-10		47254097	123860970	15	18092											
C6orf204	387119	hgsc.bcm.edu	37	6	118790282	118790282	+	Missense_Mutation	SNP	C	C	T	rs371610026		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr6:118790282C>T	ENST00000368491.3	-	12	2828	c.2207G>A	c.(2206-2208)cGt>cAt	p.R736H	CEP85L_ENST00000368488.5_Missense_Mutation_p.R739H	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	736						centrosome (GO:0005813)|cytoplasm (GO:0005737)											GCCCTGAGCACGCTGATTAAG	0.378																																																0													93	91	92					6																	118790282		1996	4188	6184	SO:0001583	missense	387119			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2207G>A	chr6.hg19:g.118790282C>T	ENSP00000357477:p.Arg736His		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	hg19	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236142	0.95240	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.12465	2.68;2.68	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	M	0.72118	2.19	0.52501	D	0.999954	D	0.89917	1.0	D	0.91635	0.999	T	0.01621	-1.1310	10	0.62326	D	0.03	-8.4553	20.6208	0.99490	0.0:1.0:0.0:0.0	.	736	Q5SZL2	CF204_HUMAN	H	736;739	ENSP00000357477:R736H;ENSP00000357474:R739H	ENSP00000357474:R739H	R	-	2	0	C6orf204	118896975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.059000	0.64306	2.882000	0.98803	0.655000	0.94253	CGT		0.378	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		T	118790282	C	T	118790282	3	4	304	1	0	0	0	0	1	0	0	0	2355	536	19	1	218	1	C6orf204	6	118790282	Missense_Mutation	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10	71536185	118790282	52324785	16	18093											
KIAA1244	57221	hgsc.bcm.edu	37	6	138656258	138656258	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr6:138656258G>A	ENST00000251691.4	+	33	6441	c.6275G>A	c.(6274-6276)aGg>aAg	p.R2092K		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGGACAAGAGGCCCCGCTCA	0.647																																																0													19	19	19					6																	138656258		2203	4297	6500	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6275G>A	chr6.hg19:g.138656258G>A	ENSP00000251691:p.Arg2092Lys			Missense_Mutation	SNP	ENST00000251691.4	hg19	CCDS5189.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.215145|5.215145	0.95104|0.95104	.|.	.|.	ENSG00000112379|ENSG00000112379	ENST00000367706|ENST00000251691	.|T	.|0.20598	.|2.06	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.156972	.|0.56097	.|D	.|0.000026	.|T	.|0.24812	.|0.0602	L|L	0.32530|0.32530	0.975|0.975	0.51012|0.51012	D|D	0.999903|0.999903	.|D	.|0.58268	.|0.982	.|D	.|0.67548	.|0.952	.|T	.|0.01301	.|-1.1391	.|10	.|0.18276	.|T	.|0.48	.|-24.3666	19.9626|19.9626	0.97256|0.97256	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2092	.|Q5TH69	.|BIG3_HUMAN	.|K	-1|2092	.|ENSP00000251691:R2092K	.|ENSP00000251691:R2092K	.|R	+|+	.|2	.|0	KIAA1244|KIAA1244	138697951|138697951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.198000|9.198000	0.94994|0.94994	2.723000|2.723000	0.93209|0.93209	0.511000|0.511000	0.50034|0.50034	.|AGG		0.647	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		A	138656258	G	A	138656258	3	1	304	1	0	0	0	0	1	0	0	0	8219	1000	35	2	6405	2	KIAA1244	6	138656258	Missense_Mutation	SNP	G	TCGA-B9-A5W9-01A-11D-A28G-10	19865976	138656258	32458809	17	18094											
ANLN	54443	hgsc.bcm.edu	37	7	36446013	36446013	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr7:36446013A>C	ENST00000265748.2	+	4	932	c.711A>C	c.(709-711)aaA>aaC	p.K237N	ANLN_ENST00000396068.2_Missense_Mutation_p.K237N	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	237	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GTTTATCCAAATTTTCCTCTG	0.428																																																0													125	118	120					7																	36446013		2203	4300	6503	SO:0001583	missense	54443			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.711A>C	chr7.hg19:g.36446013A>C	ENSP00000265748:p.Lys237Asn		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	hg19	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239520	0.58995	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.03004	4.08;4.08	5.51	4.35	0.52113	.	0.142348	0.64402	D	0.000007	T	0.16214	0.0390	M	0.71581	2.175	0.44067	D	0.99681	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;D;D;D	0.87578	0.998;0.913;0.973;0.913	T	0.00176	-1.1953	10	0.72032	D	0.01	-27.164	12.9765	0.58540	0.8648:0.1352:0.0:0.0	.	114;237;237;237	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	N	237	ENSP00000265748:K237N;ENSP00000379380:K237N	ENSP00000265748:K237N	K	+	3	2	ANLN	36412538	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.978000	0.63799	1.024000	0.39682	0.528000	0.53228	AAA		0.428	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		C	36446013	A	C	36446013	3	2	304	1	0	0	0	0	1	0	0	0	694	98	4	5	725	5	ANLN	7	36446013	Missense_Mutation	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10		36446013	122692650	18	18095											
MGC70857	414919	hgsc.bcm.edu	37	8	145753110	145753110	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr8:145753110C>A	ENST00000524821.1	-	3	482	c.267G>T	c.(265-267)gaG>gaT	p.E89D	C8orf82_ENST00000313465.5_3'UTR|LRRC24_ENST00000529415.2_5'Flank|LRRC24_ENST00000533758.1_5'Flank			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	89										endometrium(1)|urinary_tract(1)	2						GGAAAGCGGCCTCGTAGCGCC	0.682																																																0													38	48	45					8																	145753110		2179	4287	6466	SO:0001583	missense	414919				CCDS34970.1	8q24	2012-04-18			ENSG00000213563	ENSG00000213563			33826	protein-coding gene	gene with protein product						12477932	Standard	NM_001001795		Approved	MGC70857	uc003zdp.1	Q6P1X6	OTTHUMG00000165181	ENST00000524821.1:c.267G>T	chr8.hg19:g.145753110C>A	ENSP00000436621:p.Glu89Asp		Q6GMR2|Q6P2Q7	Missense_Mutation	SNP	ENST00000524821.1	hg19	CCDS34970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.998184|3.998184	0.74818|0.74818	.|.	.|.	ENSG00000213563|ENSG00000213563	ENST00000524821|ENST00000532827	.|.	.|.	.|.	3.97|3.97	2.88|2.88	0.33553|0.33553	.|.	0.238001|.	0.26891|.	U|.	0.021962|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;P|.	0.58268|.	0.982;0.939|.	P;P|.	0.58013|.	0.831;0.554|.	T|T	0.51872|0.51872	-0.8650|-0.8650	9|5	0.44086|.	T|.	0.13|.	-10.1373|-10.1373	3.8003|3.8003	0.08756|0.08756	0.0:0.6552:0.0:0.3448|0.0:0.6552:0.0:0.3448	.|.	81;89|.	Q6P1X6-2;Q6P1X6|.	.;CH082_HUMAN|.	D|C	89|134	.|.	ENSP00000436621:E89D|.	E|G	-|-	3|1	2|0	C8orf82|C8orf82	145723918|145723918	0.969000|0.969000	0.33509|0.33509	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	1.066000|1.066000	0.30604|0.30604	0.810000|0.810000	0.34279|0.34279	0.563000|0.563000	0.77884|0.77884	GAG|GGC		0.682	C8orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382503.1	NM_001001795		A	145753110	C	A	145753110	3	1	304	1	0	0	0	0	1	0	0	0	9555	680	24	4	387	4	MGC70857	8	145753110	Missense_Mutation	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10		145753110	610912	19	18096											
HK1	3098	hgsc.bcm.edu	37	10	71128300	71128300	+	Silent	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr10:71128300G>A	ENST00000359426.6	+	5	608	c.504G>A	c.(502-504)ctG>ctA	p.L168L	HK1_ENST00000404387.2_Silent_p.L172L|HK1_ENST00000360289.2_Silent_p.L156L|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.L167L|HK1_ENST00000448642.2_Silent_p.L203L	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	168	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AGGCCATCCTGATCACCTGGA	0.547																																																0													97	85	89					10																	71128300		2203	4300	6503	SO:0001819	synonymous_variant	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.504G>A	chr10.hg19:g.71128300G>A			E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	hg19	CCDS7292.1																																																																																				0.547	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		A	71128300	G	A	71128300	2	1	304	1	0	0	0	0	0	0	0	1	7192	1277	45	2		2	HK1	10	71128300	Silent	SNP	G	TCGA-B9-A5W9-01A-11D-A28G-10		71128300	64406447	20	18097											
DHDPSL	112817	hgsc.bcm.edu	37	10	99358955	99358955	+	Silent	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr10:99358955C>T	ENST00000370646.4	+	3	811	c.450C>T	c.(448-450)ctC>ctT	p.L150L	HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	150					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GTGCGGCCCTCATTCACCACT	0.612																																																0													52	47	49					10																	99358955		2203	4300	6503	SO:0001819	synonymous_variant	112817			BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.450C>T	chr10.hg19:g.99358955C>T			A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Silent	SNP	ENST00000370646.4	hg19	CCDS7467.1																																																																																				0.612	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		T	99358955	C	T	99358955	2	4	304	1	0	0	0	0	0	0	0	1	4482	813	29	2		2	DHDPSL	10	99358955	Silent	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10	28230655	99358955	36175792	21	18098											
SLC18A2	6571	hgsc.bcm.edu	37	10	119003520	119003520	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr10:119003520G>T	ENST00000298472.5	+	3	303	c.160G>T	c.(160-162)Gag>Tag	p.E54*	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	54					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CATTAAGCATGAGAAGAATGC	0.478																																																0													70	61	64					10																	119003520		2203	4300	6503	SO:0001587	stop_gained	6571			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.160G>T	chr10.hg19:g.119003520G>T	ENSP00000298472:p.Glu54*		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Nonsense_Mutation	SNP	ENST00000298472.5	hg19	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307301	0.81247	.	.	ENSG00000165646	ENST00000298472	.	.	.	5.82	5.82	0.92795	.	0.167513	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-19.4478	14.7287	0.69365	0.0:0.144:0.856:0.0	.	.	.	.	X	54	.	ENSP00000298472:E54X	E	+	1	0	SLC18A2	118993510	0.976000	0.34144	0.990000	0.47175	0.418000	0.31294	1.665000	0.37449	2.756000	0.94617	0.563000	0.77884	GAG		0.478	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		T	119003520	G	T	119003520	4	4	304	1	0	0	0	0	0	1	0	0	14432	1291	45	4	166	4	SLC18A2	10	119003520	Nonsense_Mutation	SNP	G	TCGA-B9-A5W9-01A-11D-A28G-10	19644565	119003520	16531227	22	18099											
C11orf46	120534	hgsc.bcm.edu	37	11	30352522	30352522	+	Silent	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr11:30352522C>T	ENST00000282032.3	+	2	242	c.27C>T	c.(25-27)gtC>gtT	p.V9V		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	9						cytoplasm (GO:0005737)											CAGTTGGAGTCCAGCTTCGTA	0.378																																																0													76	70	72					11																	30352522		2202	4299	6501	SO:0001819	synonymous_variant	120534			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"chromosome 11 open reading frame 46"	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.27C>T	chr11.hg19:g.30352522C>T			Q5HYH9	Silent	SNP	ENST00000282032.3	hg19	CCDS7869.1																																																																																				0.378	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		T	30352522	C	T	30352522	2	4	304	1	0	0	0	0	0	0	0	1	1645	842	30	2		2	C11orf46	11	30352522	Silent	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10		30352522	104653994	23	18100											
CCDC85B	11007	hgsc.bcm.edu	37	11	65658488	65658488	+	Silent	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr11:65658488C>T	ENST00000312579.2	+	1	614	c.234C>T	c.(232-234)cgC>cgT	p.R78R	FIBP_ENST00000426652.2_5'Flank|FIBP_ENST00000533045.1_5'Flank|FIBP_ENST00000357519.4_5'Flank|FIBP_ENST00000338369.2_5'Flank	NM_006848.2	NP_006839.2	Q15834	CC85B_HUMAN	coiled-coil domain containing 85B	78					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)									READ - Rectum adenocarcinoma(159;0.166)		GTGAGCTGCGCGACCTCTGCT	0.701																																																0													5	6	5					11																	65658488		2076	4086	6162	SO:0001819	synonymous_variant	11007			BC008796	CCDS8120.1	11q13.1	2010-12-24				ENSG00000175602			24926	protein-coding gene	gene with protein product	"hepatitis delta antigen interacting protein A"	605360				8810253, 15644333, 17873903	Standard	NM_006848		Approved	DIPA	uc001ogf.3	Q15834		ENST00000312579.2:c.234C>T	chr11.hg19:g.65658488C>T			B2R598|Q96HA0	Silent	SNP	ENST00000312579.2	hg19	CCDS8120.1																																																																																				0.701	CCDC85B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391196.1	NM_006848		T	65658488	C	T	65658488	2	4	304	1	0	0	0	0	0	0	0	1	2862	755	27	1		1	CCDC85B	11	65658488	Silent	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10	35305966	65658488	69348028	24	18101											
SDHD	6392	hgsc.bcm.edu	37	11	111958619	111958619	+	Missense_Mutation	SNP	A	A	G	rs397514034		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr11:111958619A>G	ENST00000375549.3	+	2	226	c.91A>G	c.(91-93)Atc>Gtc	p.I31V	SDHD_ENST00000532699.1_Missense_Mutation_p.I31V|TIMM8B_ENST00000541231.1_5'Flank|SDHD_ENST00000528182.1_Missense_Mutation_p.I31V|TIMM8B_ENST00000507614.1_5'Flank|SDHD_ENST00000526592.1_Missense_Mutation_p.I31V|TIMM8B_ENST00000504148.2_5'Flank|SDHD_ENST00000528021.1_Missense_Mutation_p.I31V|SDHD_ENST00000528048.1_Missense_Mutation_p.I31V|SDHD_ENST00000525291.1_Intron	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	31					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	ACCTGCTCATATCTCAGCATT	0.473			"Mis, N, F, S"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													yes	Rec		Familial paraganglioma	11	11q23	6392	"succinate dehydrogenase complex, subunit D, integral membrane protein"		O	0													178	155	163					11																	111958619		2201	4297	6498	SO:0001583	missense	6392	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"Mitochondrial respiratory chain complex / Complex II"	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.91A>G	chr11.hg19:g.111958619A>G	ENSP00000364699:p.Ile31Val		A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Missense_Mutation	SNP	ENST00000375549.3	hg19	CCDS31678.1	.	.	.	.	.	.	.	.	.	.	A	0.223	-1.026824	0.02045	.	.	ENSG00000204370	ENST00000375549;ENST00000528182;ENST00000528048;ENST00000528021;ENST00000526592	D;D;T;D;D	0.94497	-3.44;-2.77;-1.48;-2.76;-2.9	4.81	2.78	0.32641	.	0.321128	0.32244	N	0.006373	T	0.77624	0.4158	N	0.01168	-0.975	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.68224	-0.5465	10	0.02654	T	1	-1.6835	6.2353	0.20760	0.2591:0.0:0.7409:0.0	.	31	O14521	DHSD_HUMAN	V	31	ENSP00000364699:I31V;ENSP00000435475:I31V;ENSP00000436217:I31V;ENSP00000432465:I31V;ENSP00000432005:I31V	ENSP00000436395:I31V	I	+	1	0	SDHD	111463829	0.331000	0.24713	0.060000	0.19600	0.783000	0.44284	0.435000	0.21510	0.511000	0.28236	-0.248000	0.11899	ATC		0.473	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392351.1	NM_003002		G	111958619	A	G	111958619	3	3	304	1	0	0	0	0	1	0	0	0	13973	449	16	3	97	3	SDHD	11	111958619	Missense_Mutation	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10	46300131	111958619	23047897	25	18102											
GXYLT1	283464	hgsc.bcm.edu	37	12	42481671	42481671	+	Missense_Mutation	SNP	A	A	G	rs202200134		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:42481671A>G	ENST00000398675.3	-	8	1472	c.1240T>C	c.(1240-1242)Tgt>Cgt	p.C414R	GXYLT1_ENST00000280876.6_Missense_Mutation_p.C383R	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	414					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						ATTTTTCCACAGTATGTATGC	0.313																																																0													84	75	78					12																	42481671		1807	4070	5877	SO:0001583	missense	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1240T>C	chr12.hg19:g.42481671A>G	ENSP00000381666:p.Cys414Arg		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	hg19	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153536	0.57259	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	.	.	.	4.9	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80804	-0.1219	9	0.87932	D	0	-22.3783	10.8349	0.46681	0.9248:0.0:0.0752:0.0	.	383;414	Q4G148-2;Q4G148	.;GXLT1_HUMAN	R	414;383	.	ENSP00000280876:C383R	C	-	1	0	GXYLT1	40767938	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.672000	0.83956	0.830000	0.34757	-0.254000	0.11334	TGT		0.313	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		G	42481671	A	G	42481671	3	3	304	1	0	0	0	0	1	0	0	0	6905	188	7	3	86	3	GXYLT1	12	42481671	Missense_Mutation	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10		42481671	91370224	26	18103											
C12orf41	54934	hgsc.bcm.edu	37	12	49073468	49073468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:49073468delT	ENST00000420613.2	-	3	447	c.400delA	c.(400-402)agtfs	p.S135fs	KANSL2_ENST00000553086.1_Frame_Shift_Del_p.S135fs|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000550347.1_Frame_Shift_Del_p.S318fs	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	135					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											CTGCGACTACTTTCTGGAGTC	0.493																																																0													50	47	48					12																	49073468		1915	4135	6050	SO:0001589	frameshift_variant	54934			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.400delA	chr12.hg19:g.49073468delT	ENSP00000415436:p.Ser135fs		Q8N3B5|Q96CV0|Q9NX51	Frame_Shift_Del	DEL	ENST00000420613.2	hg19	CCDS44869.1																																																																																				0.493	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		-	49073468	T	-	49073468	7	5	304	1	0	1	0	1	0	0	0	0	1689	1609	56	0	1110	0	C12orf41	12	49073468	Frame_Shift_Del	DEL	T	TCGA-B9-A5W9-01A-11D-A28G-10	6591797	49073468	84778427	27	18104											
MLL2	8085	hgsc.bcm.edu	37	12	49432161	49432161	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:49432161A>C	ENST00000301067.7	-	34	8977	c.8978T>G	c.(8977-8979)cTg>cGg	p.L2993R	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2993					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATCGTCATCCAGCTCGGGATC	0.597																																																0													85	85	85					12																	49432161		2025	4193	6218	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8978T>G	chr12.hg19:g.49432161A>C	ENSP00000301067:p.Leu2993Arg		O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408624	0.25378	.	.	ENSG00000167548	ENST00000301067	D	0.83335	-1.71	5.46	5.46	0.80206	.	0.000000	0.30428	N	0.009645	D	0.86053	0.5841	L	0.29908	0.895	0.38041	D	0.935458	D	0.89917	1.0	D	0.75484	0.986	D	0.88960	0.3393	10	0.87932	D	0	.	14.8421	0.70233	1.0:0.0:0.0:0.0	.	2993	O14686	MLL2_HUMAN	R	2993	ENSP00000301067:L2993R	ENSP00000301067:L2993R	L	-	2	0	MLL2	47718428	0.520000	0.26250	0.999000	0.59377	0.717000	0.41224	4.553000	0.60753	2.207000	0.71202	0.533000	0.62120	CTG		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49432161	A	C	49432161	3	2	304	1	0	0	0	0	1	0	0	0	9623	188	7	5	7719	5	MLL2	12	49432161	Missense_Mutation	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10	358693	49432161	84419734	28	18105											
RAB5B	5869	hgsc.bcm.edu	37	12	56384574	56384574	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:56384574A>G	ENST00000360299.5	+	4	645	c.424A>G	c.(424-426)Atg>Gtg	p.M142V	RAB5B_ENST00000553116.1_Missense_Mutation_p.M142V|RAB5B_ENST00000448789.2_Intron	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	142					antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CAACAAACGTATGGTGGAGTA	0.522																																																0													126	120	122					12																	56384574		2203	4300	6503	SO:0001583	missense	5869				CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"RAB, member RAS oncogene"	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.424A>G	chr12.hg19:g.56384574A>G	ENSP00000353444:p.Met142Val		A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Missense_Mutation	SNP	ENST00000360299.5	hg19	CCDS8900.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.481|9.481	1.098275|1.098275	0.20552|0.20552	.|.	.|.	ENSG00000111540|ENSG00000111540	ENST00000553116;ENST00000360299|ENST00000549218	T;T|.	0.78364|.	-1.17;-1.17|.	4.81|4.81	3.66|3.66	0.41972|0.41972	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.15782|0.15782	0.0380|0.0380	N|N	0.00633|0.00633	-1.31|-1.31	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.06991|0.06991	-1.0796|-1.0796	10|5	0.09843|.	T|.	0.71|.	-6.2164|-6.2164	9.8491|9.8491	0.41046|0.41046	0.9168:0.0:0.0832:0.0|0.9168:0.0:0.0832:0.0	.|.	142;142|.	Q6FI54;P61020|.	.;RAB5B_HUMAN|.	V|C	142|61	ENSP00000450168:M142V;ENSP00000353444:M142V|.	ENSP00000353444:M142V|.	M|Y	+|+	1|2	0|0	RAB5B|RAB5B	54670841|54670841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.607000|1.607000	0.36836|0.36836	0.974000|0.974000	0.38366|0.38366	0.477000|0.477000	0.44152|0.44152	ATG|TAT		0.522	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405396.1			G	56384574	A	G	56384574	3	3	304	1	0	0	0	0	1	0	0	0	12955	449	16	3	434	3	RAB5B	12	56384574	Missense_Mutation	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10	6952413	56384574	77467321	29	18106											
SLC17A8	246213	hgsc.bcm.edu	37	12	100811853	100811853	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:100811853T>G	ENST00000323346.5	+	11	1657	c.1344T>G	c.(1342-1344)atT>atG	p.I448M	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.I398M	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	448					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGCCAGCATTCTCATGGGGA	0.478																																																0													177	163	167					12																	100811853		2203	4300	6503	SO:0001583	missense	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1344T>G	chr12.hg19:g.100811853T>G	ENSP00000316909:p.Ile448Met		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	hg19	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261452	0.59431	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.55588	0.51;0.51	5.55	1.98	0.26296	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.90542	3.125	0.58432	D	0.999993	D;D	0.89917	0.999;1.0	D;D	0.87578	0.987;0.998	T	0.74121	-0.3767	10	0.66056	D	0.02	.	9.7886	0.40692	0.0:0.349:0.0:0.651	.	448;398	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	M	448;398	ENSP00000316909:I448M;ENSP00000376715:I398M	ENSP00000316909:I448M	I	+	3	3	SLC17A8	99335984	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.508000	0.22692	0.164000	0.19529	-0.250000	0.11733	ATT		0.478	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		G	100811853	T	G	100811853	3	3	304	1	0	0	0	0	1	0	0	0	14429	1771	62	5	1386	5	SLC17A8	12	100811853	Missense_Mutation	SNP	T	TCGA-B9-A5W9-01A-11D-A28G-10	44427279	100811853	33040042	30	18107											
PEBP1	5037	hgsc.bcm.edu	37	12	118575948	118575948	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:118575948A>C	ENST00000261313.2	+	2	592	c.240A>C	c.(238-240)aaA>aaC	p.K80N		NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	80						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGATCCCAAATACAGGTGAG	0.517																																					NSCLC(44;94 1357 12187 49467)											0													41	36	38					12																	118575948		2203	4300	6503	SO:0001583	missense	5037			X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"Raf kinase inhibitory protein", "hippocampal cholinergic neurostimulating peptide"	604591	"prostatic binding protein"	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.240A>C	chr12.hg19:g.118575948A>C	ENSP00000261313:p.Lys80Asn		B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	hg19	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.425675	0.43020	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.48522	0.81	4.42	0.684	0.18003	Phosphatidylethanolamine-binding, conserved site (1);	0.048518	0.85682	D	0.000000	T	0.37433	0.1003	L	0.60904	1.88	0.54753	D	0.999985	B;B	0.12013	0.005;0.001	B;B	0.23716	0.048;0.046	T	0.08554	-1.0716	10	0.30078	T	0.28	-8.474	4.709	0.12863	0.5104:0.0:0.3477:0.142	.	80;80	B4DRT4;P30086	.;PEBP1_HUMAN	N	80	ENSP00000261313:K80N	ENSP00000261313:K80N	K	+	3	2	PEBP1	117060331	0.829000	0.29322	0.997000	0.53966	0.937000	0.57800	0.050000	0.14120	-0.044000	0.13491	-0.274000	0.10170	AAA		0.517	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567		C	118575948	A	C	118575948	3	2	304	1	0	0	0	0	1	0	0	0	11715	98	4	5	246	5	PEBP1	12	118575948	Missense_Mutation	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10	17764095	118575948	15275947	31	18108											
KDM2B	84678	hgsc.bcm.edu	37	12	121881832	121881833	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:121881832_121881833GC>AA	ENST00000377071.4	-	16	2505_2506	c.2433_2434GC>TT	c.(2431-2436)gaGCtg>gaTTtg	p.E811D	KDM2B_ENST00000542973.1_Missense_Mutation_p.E179D|KDM2B_ENST00000377069.4_Missense_Mutation_p.E780D|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	811					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CGTCCACTCAGCTCCTGGGGCT	0.649											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001583	missense	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2433_2434delinsAA	chr12.hg19:g.121881832_121881833delinsAA	ENSP00000366271:p.Glu811Asp	1514	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent|Missense_Mutation	SNP	ENST00000377071.4	hg19	CCDS41850.1																																																																																				0.649	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		AA	121881833	GC	AA	121881832	3	1	304	1	0	0	0	0	1	0	0	0	8127	962	34	2	1660	2	KDM2B	12	121881832	Missense_Mutation	DNP	GC	TCGA-B9-A5W9-01A-11D-A28G-10	3305884	121881832	11970063	32	18109											
MYCBP2	23077	hgsc.bcm.edu	37	13	77714983	77714983	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr13:77714983T>C	ENST00000360084.5	-	0	7377				MYCBP2_ENST00000407578.2_Missense_Mutation_p.K2467E|MYCBP2_ENST00000544440.2_Missense_Mutation_p.K2429E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K2429E					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCCCTAACCTTATTAGGCTGA	0.403																																																0													220	222	222					13																	77714983		2203	4300	6503			23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000360084.5:c.-327A>G	chr13.hg19:g.77714983T>C				Missense_Mutation	SNP	ENST00000360084.5	hg19		.	.	.	.	.	.	.	.	.	.	T	20.4	3.985587	0.74589	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.36520	1.26;1.25;1.26	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	M	0.61703	1.905	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.59658	-0.7413	10	0.72032	D	0.01	.	15.2435	0.73488	0.0:0.0:0.0:1.0	.	2429	O75592	MYCB2_HUMAN	E	2429;2467;2429	ENSP00000349892:K2429E;ENSP00000384288:K2467E;ENSP00000444596:K2429E	ENSP00000349892:K2429E	K	-	1	0	MYCBP2	76612984	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.642000	0.83385	2.012000	0.59069	0.482000	0.46254	AAG		0.403	MYCBP2-202	KNOWN	basic	protein_coding	protein_coding		NM_015057		C	77714983	T	C	77714983	1	2	304	1	0	1	0	0	0	0	0	0	10020	1763	61	3		3	MYCBP2	13	77714983	De_novo_Start_OutOfFrame	SNP	T	TCGA-B9-A5W9-01A-11D-A28G-10		77714983	37454895	33	18110											
TM9SF1	10548	hgsc.bcm.edu	37	14	24661497	24661519	+	Frame_Shift_Del	DEL	CTGCTGAGTTAATGGCCCCATGA	CTGCTGAGTTAATGGCCCCATGA	-	rs150862560		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	CTGCTGAGTTAATGGCCCCATGA	CTGCTGAGTTAATGGCCCCATGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr14:24661497_24661519delCTGCTGAGTTAATGGCCCCATGA	ENST00000261789.4	-	4	1369_1391	c.1011_1033delTCATGGGGCCATTAACTCAGCAG	c.(1009-1035)cgtcatggggccattaactcagcagccfs	p.HGAINSAA338fs	TM9SF1_ENST00000396854.4_Frame_Shift_Del_p.HGAINSAA338fs|TM9SF1_ENST00000530611.1_Frame_Shift_Del_p.HGAINSAA547fs|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000524835.1_Frame_Shift_Del_p.HGAINSAA251fs|TM9SF1_ENST00000556387.1_Frame_Shift_Del_p.HGAINSAA547fs|TM9SF1_ENST00000528669.1_Frame_Shift_Del_p.HGAINSAA338fs	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	338					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.S343P(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AACAAGATGGCTGCTGAGTTAATGGCCCCATGACGGTGCACAT	0.538																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1011_1033delTCATGGGGCCATTAACTCAGCAG	chr14.hg19:g.24661497_24661519delCTGCTGAGTTAATGGCCCCATGA	ENSP00000261789:p.His338fs		D3DS65|Q86SZ6|Q96FI8	Frame_Shift_Del	DEL	ENST00000261789.4	hg19	CCDS9617.1																																																																																				0.538	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		-	24661519	CTGCTGAGTTAATGGCCCCATGA	-	24661497	7	5	304	1	0	1	0	1	0	0	0	0	15982	797	28	0	842	0	TM9SF1	14	24661497	Frame_Shift_Del	DEL	CTGCTGAGTTAATGGCCCCATGA	TCGA-B9-A5W9-01A-11D-A28G-10		24661497	82688043	34	18111											
SPTB	6710	hgsc.bcm.edu	37	14	65253201	65253201	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr14:65253201C>T	ENST00000389721.5	-	15	3514	c.3482G>A	c.(3481-3483)aGc>aAc	p.S1161N	SPTB_ENST00000556626.1_Missense_Mutation_p.S1161N|SPTB_ENST00000542895.1_Missense_Mutation_p.S1161N|SPTB_ENST00000389720.3_Missense_Mutation_p.S1161N|SPTB_ENST00000389722.3_Missense_Mutation_p.S1161N	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1161					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GAGGGTGTGGCTGCGGCTCTC	0.612																																																0													58	59	59					14																	65253201		2203	4300	6503	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3482G>A	chr14.hg19:g.65253201C>T	ENSP00000374371:p.Ser1161Asn		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	hg19	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851576	0.32699	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.78	3.86	0.44501	.	0.412688	0.27549	N	0.018876	T	0.18551	0.0445	N	0.01352	-0.895	0.22096	N	0.999368	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13176	-1.0519	10	0.59425	D	0.04	.	6.711	0.23276	0.0:0.7003:0.0:0.2997	.	1161;1165	P11277;Q59FP5	SPTB1_HUMAN;.	N	1165;1161;1161;1161;1161;1161	ENSP00000374372:S1161N;ENSP00000451752:S1161N;ENSP00000374371:S1161N;ENSP00000443882:S1161N;ENSP00000374370:S1161N	ENSP00000374370:S1161N	S	-	2	0	SPTB	64322954	0.429000	0.25530	0.066000	0.19879	0.879000	0.50718	3.324000	0.52022	1.079000	0.41038	0.549000	0.68633	AGC		0.612	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65253201	C	T	65253201	3	4	304	1	0	0	0	0	1	0	0	0	15123	797	28	2	3657	2	SPTB	14	65253201	Missense_Mutation	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10	40591704	65253201	42096339	35	18112											
SPTBN5	51332	hgsc.bcm.edu	37	15	42166194	42166194	+	Missense_Mutation	SNP	A	A	C	rs199969875		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr15:42166194A>C	ENST00000320955.6	-	25	4966	c.4739T>G	c.(4738-4740)cTg>cGg	p.L1580R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1580					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCAGAACTCAGCACCCGTTG	0.652																																																0													26	31	29					15																	42166194		2009	4188	6197	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4739T>G	chr15.hg19:g.42166194A>C	ENSP00000317790:p.Leu1580Arg			Missense_Mutation	SNP	ENST00000320955.6	hg19		.	.	.	.	.	.	.	.	.	.	.	16.38	3.107363	0.56291	.	.	ENSG00000137877	ENST00000320955	T	0.51071	0.72	5.26	5.26	0.73747	.	0.111511	0.39909	N	0.001223	T	0.71484	0.3345	M	0.84683	2.71	0.34983	D	0.754273	D	0.89917	1.0	D	0.87578	0.998	T	0.83027	-0.0164	10	0.87932	D	0	.	14.1772	0.65549	1.0:0.0:0.0:0.0	.	1580	Q9NRC6	SPTN5_HUMAN	R	1580	ENSP00000317790:L1580R	ENSP00000317790:L1580R	L	-	2	0	SPTBN5	39953486	1.000000	0.71417	0.240000	0.24138	0.217000	0.24651	6.813000	0.75231	1.979000	0.57680	0.529000	0.55759	CTG		0.652	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		C	42166194	A	C	42166194	3	2	304	1	0	0	0	0	1	0	0	0	15127	188	7	5	6461	5	SPTBN5	15	42166194	Missense_Mutation	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10		42166194	60365198	36	18113											
GPR97	222487	hgsc.bcm.edu	37	16	57713092	57713092	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr16:57713092C>T	ENST00000333493.4	+	5	657	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Missense_Mutation_p.P46S|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	166					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCACAGGGCCCCCGGCTCGG	0.632																																																0													60	61	61					16																	57713092		2198	4300	6498	SO:0001583	missense	222487			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.496C>T	chr16.hg19:g.57713092C>T	ENSP00000332900:p.Pro166Ser		Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	hg19	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	C	6.016	0.371299	0.11409	.	.	ENSG00000182885	ENST00000333493;ENST00000450388	T;T	0.28454	1.61;1.7	4.3	-0.0636	0.13776	.	0.491076	0.17461	N	0.173450	T	0.19248	0.0462	L	0.38838	1.175	0.34925	D	0.748776	B	0.21071	0.051	B	0.18561	0.022	T	0.09015	-1.0694	10	0.52906	T	0.07	.	4.2438	0.10662	0.0:0.5249:0.1709:0.3042	.	166	Q86Y34	GPR97_HUMAN	S	166;46	ENSP00000332900:P166S;ENSP00000404803:P46S	ENSP00000332900:P166S	P	+	1	0	GPR97	56270593	0.001000	0.12720	0.670000	0.29842	0.078000	0.17371	-0.024000	0.12435	0.104000	0.17725	0.313000	0.20887	CCC		0.632	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		T	57713092	C	T	57713092	3	4	304	1	0	0	0	0	1	0	0	0	6722	623	22	2	514	2	GPR97	16	57713092	Missense_Mutation	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10		57713092	32641661	37	18114											
ZFHX3	463	hgsc.bcm.edu	37	16	72821093	72821093	+	Silent	SNP	G	G	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr16:72821093G>T	ENST00000268489.5	-	10	11754	c.11082C>A	c.(11080-11082)acC>acA	p.T3694T	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.T2780T|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3694					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCCTACACTGGTCAGACCAC	0.463																																																0													161	173	169					16																	72821093		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.11082C>A	chr16.hg19:g.72821093G>T			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	hg19	CCDS10908.1																																																																																				0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72821093	G	T	72821093	2	4	304	1	0	0	0	0	0	0	0	1	17639	1335	47	4		4	ZFHX3	16	72821093	Silent	SNP	G	TCGA-B9-A5W9-01A-11D-A28G-10	15108001	72821093	17533660	38	18115											
GALNS	2588	hgsc.bcm.edu	37	16	88889080	88889080	+	Silent	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr16:88889080G>A	ENST00000268695.5	-	12	1369	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V	GALNS_ENST00000542788.1_Silent_p.V352V	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	427					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TGTGAGTTGTGACCCCTGAAA	0.622																																					GBM(129;1929 2344 25209 33204)											0													105	88	94					16																	88889080		2196	4299	6495	SO:0001819	synonymous_variant	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1281C>T	chr16.hg19:g.88889080G>A			Q86VK3	Silent	SNP	ENST00000268695.5	hg19	CCDS10970.1																																																																																				0.622	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			A	88889080	G	A	88889080	2	1	304	1	0	0	0	0	0	0	0	1	6208	1277	45	2		2	GALNS	16	88889080	Silent	SNP	G	TCGA-B9-A5W9-01A-11D-A28G-10	16067987	88889080	1465673	39	18116											
MYO15A	51168	hgsc.bcm.edu	37	17	18058522	18058522	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr17:18058522C>T	ENST00000205890.5	+	46	8661	c.8323C>T	c.(8323-8325)Cgc>Tgc	p.R2775C	MYO15A_ENST00000585180.1_Missense_Mutation_p.R39C|MYO15A_ENST00000418233.3_Missense_Mutation_p.R39C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2775	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTACTTCTCCCGCATCTTCCC	0.607																																																0													39	48	45					17																	18058522		2100	4218	6318	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8323C>T	chr17.hg19:g.18058522C>T	ENSP00000205890:p.Arg2775Cys		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898121	0.52227	.	.	ENSG00000091536	ENST00000205890	D	0.93488	-3.23	5.1	5.1	0.69264	.	.	.	.	.	D	0.97164	0.9073	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.97931	1.0320	9	0.87932	D	0	.	18.5096	0.90911	0.0:1.0:0.0:0.0	.	39;2775	B4DFC7;Q9UKN7	.;MYO15_HUMAN	C	2775	ENSP00000205890:R2775C	ENSP00000205890:R2775C	R	+	1	0	MYO15A	17999247	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.086000	0.76885	2.363000	0.80096	0.561000	0.74099	CGC		0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18058522	C	T	18058522	3	4	304	1	0	0	0	0	1	0	0	0	10065	652	23	1	8497	1	MYO15A	17	18058522	Missense_Mutation	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10		18058522	63136688	40	18117											
AATF	26574	hgsc.bcm.edu	37	17	35345926	35345926	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr17:35345926G>A	ENST00000225402.5	+	6	1307	c.1056G>A	c.(1054-1056)atG>atA	p.M352I		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	352	RB1 binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				CCAGCTTCATGGCAAAGCGCT	0.493																																					NSCLC(49;901 1159 19183 41572 46244)											0													97	90	93					17																	35345926		2203	4300	6503	SO:0001583	missense	26574			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1056G>A	chr17.hg19:g.35345926G>A	ENSP00000225402:p.Met352Ile		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	hg19	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740923	0.30865	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.58	4.62	0.57501	.	0.033193	0.85682	D	0.000000	T	0.43722	0.1260	L	0.33339	1.005	0.52501	D	0.999955	B	0.12013	0.005	B	0.17098	0.017	T	0.26224	-1.0109	9	0.15066	T	0.55	-8.411	11.471	0.50268	0.1564:0.0:0.8436:0.0	.	352	Q9NY61	AATF_HUMAN	I	352	.	ENSP00000225402:M352I	M	+	3	0	AATF	32420039	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.264000	0.72527	1.370000	0.46153	0.561000	0.74099	ATG		0.493	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		A	35345926	G	A	35345926	3	1	304	1	0	0	0	0	1	0	0	0	25	1348	47	2	1078	2	AATF	17	35345926	Missense_Mutation	SNP	G	TCGA-B9-A5W9-01A-11D-A28G-10	17287404	35345926	45849284	41	18118											
SCPEP1	59342	hgsc.bcm.edu	37	17	55058480	55058480	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr17:55058480A>C	ENST00000262288.3	+	2	169	c.114A>C	c.(112-114)gaA>gaC	p.E38D	RP5-1107A17.4_ENST00000572877.1_RNA|SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	38					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGGGCAAGGAAGTATGGGATT	0.493																																																0													128	105	113					17																	55058480		2203	4300	6503	SO:0001583	missense	59342			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"retinoid inducible serine carboxypeptidase"					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.114A>C	chr17.hg19:g.55058480A>C	ENSP00000262288:p.Glu38Asp		Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	hg19	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.093414	0.56075	.	.	ENSG00000121064	ENST00000262288	D	0.85955	-2.05	5.84	3.64	0.41730	.	0.000000	0.85682	D	0.000000	D	0.91331	0.7266	M	0.89414	3.03	0.46954	D	0.99926	D	0.65815	0.995	D	0.70716	0.97	D	0.90110	0.4191	10	0.66056	D	0.02	-12.7064	5.5755	0.17220	0.71:0.0:0.29:0.0	.	38	Q9HB40	RISC_HUMAN	D	38	ENSP00000262288:E38D	ENSP00000262288:E38D	E	+	3	2	SCPEP1	52413479	0.816000	0.29132	0.975000	0.42487	0.312000	0.27988	0.445000	0.21677	1.036000	0.39998	0.533000	0.62120	GAA		0.493	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		C	55058480	A	C	55058480	3	2	304	1	0	0	0	0	1	0	0	0	13941	69	3	5	120	5	SCPEP1	17	55058480	Missense_Mutation	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10	19712554	55058480	26136730	42	18119											
PODNL1	79883	hgsc.bcm.edu	37	19	14044012	14044012	+	Silent	SNP	G	G	A	rs79400921	byFrequency	TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:14044012G>A	ENST00000339560.5	-	8	1318	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	PODNL1_ENST00000538371.2_Silent_p.L347L|PODNL1_ENST00000538517.2_Silent_p.L258L|PODNL1_ENST00000254320.3_Silent_p.L267L	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	349	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			ACGCGGTCCAGCCCATTGCCA	0.726													G|||	17	0.00339457	0.0129	0.0	5008	,	,		12628	0.0		0.0	False		,,,				2504	0.0															0								G	,,	25,3857		0,25,1916	4	6	6		1039,772,1045	2.1	0.7	19	dbSNP_131	6	1,7563		0,1,3781	no	coding-synonymous,coding-synonymous,coding-synonymous	PODNL1	NM_001146254.1,NM_001146255.1,NM_024825.3	,,	0,26,5697	AA,AG,GG		0.0132,0.644,0.2272	,,	347/511,258/422,349/513	14044012	26,11420	1941	3782	5723	SO:0001819	synonymous_variant	79883			AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1045C>T	chr19.hg19:g.14044012G>A			B7Z564|Q9H5G9	Silent	SNP	ENST00000339560.5	hg19	CCDS12300.1																																																																																				0.726	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		A	14044012	G	A	14044012	2	1	304	1	0	0	0	0	0	0	0	1	12181	962	34	2		2	PODNL1	19	14044012	Silent	SNP	G	TCGA-B9-A5W9-01A-11D-A28G-10		14044012	45084971	43	18120											
CYP4F3	4051	hgsc.bcm.edu	37	19	15760902	15760902	+	Missense_Mutation	SNP	G	G	A	rs113330239		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:15760902G>A	ENST00000221307.8	+	7	874	c.827G>A	c.(826-828)cGc>cAc	p.R276H	CYP4F3_ENST00000585846.1_Missense_Mutation_p.R276H|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R276H|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R276H	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	276					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.R276H(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGCGGCGCCGCACCCTCCCT	0.577													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18604	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	large_intestine(1)											106	96	99					19																	15760902		2203	4300	6503	SO:0001583	missense	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.827G>A	chr19.hg19:g.15760902G>A	ENSP00000221307:p.Arg276His		B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	hg19	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	14.12	2.441442	0.43326	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.69561	-0.41	3.99	-0.166	0.13351	.	0.712480	0.12645	U	0.450940	T	0.63117	0.2484	M	0.77406	2.37	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.19148	0.015;0.024	T	0.58188	-0.7680	10	0.52906	T	0.07	.	7.3165	0.26503	0.4513:0.0:0.5487:0.0	.	276;276	B7Z8Z3;Q08477	.;CP4F3_HUMAN	H	203;276	ENSP00000221307:R276H	ENSP00000221307:R276H	R	+	2	0	CYP4F3	15621902	0.000000	0.05858	0.009000	0.14445	0.817000	0.46193	-1.012000	0.03649	0.173000	0.19788	0.313000	0.20887	CGC		0.577	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		A	15760902	G	A	15760902	3	1	304	1	0	0	0	0	1	0	0	0	4192	1087	38	1	849	1	CYP4F3	19	15760902	Missense_Mutation	SNP	G	TCGA-B9-A5W9-01A-11D-A28G-10	1716890	15760902	43368081	44	18121											
LRRC25	126364	hgsc.bcm.edu	37	19	18507658	18507658	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:18507658C>G	ENST00000339007.3	-	1	769	c.116G>C	c.(115-117)aGt>aCt	p.S39T	LRRC25_ENST00000595840.1_Missense_Mutation_p.S39T	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	39						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GCACGTGGCACTGAACTCCGC	0.622																																																0													76	57	64					19																	18507658		2203	4300	6503	SO:0001583	missense	126364			AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.116G>C	chr19.hg19:g.18507658C>G	ENSP00000340983:p.Ser39Thr		Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	hg19	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	C	0.518	-0.863567	0.02590	.	.	ENSG00000175489	ENST00000339007	T	0.31510	1.49	4.4	-4.55	0.03441	.	2.202890	0.02302	N	0.071289	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20739	-1.0266	10	0.02654	T	1	2.5899	1.3392	0.02151	0.2155:0.2315:0.3888:0.1642	.	39	Q8N386	LRC25_HUMAN	T	39	ENSP00000340983:S39T	ENSP00000340983:S39T	S	-	2	0	LRRC25	18368658	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.684000	0.05173	-0.454000	0.07066	-0.367000	0.07326	AGT		0.622	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		G	18507658	C	G	18507658	3	3	304	1	0	0	0	0	1	0	0	0	8982	565	20	4	809	4	LRRC25	19	18507658	Missense_Mutation	SNP	C	TCGA-B9-A5W9-01A-11D-A28G-10	2746756	18507658	40621325	45	18122											
ZNF14	7561	hgsc.bcm.edu	37	19	19822257	19822257	+	Silent	SNP	T	T	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:19822257T>G	ENST00000344099.3	-	4	1971	c.1833A>C	c.(1831-1833)ggA>ggC	p.G611G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	611					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGGTTTCTCTCCAGTGTGAG	0.408																																																0													83	81	82					19																	19822257		2203	4300	6503	SO:0001819	synonymous_variant	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1833A>C	chr19.hg19:g.19822257T>G			B9EGA4|Q9ULZ5	Silent	SNP	ENST00000344099.3	hg19	CCDS12409.1																																																																																				0.408	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		G	19822257	T	G	19822257	2	3	304	1	0	0	0	0	0	0	0	1	17733	1538	54	5		5	ZNF14	19	19822257	Silent	SNP	T	TCGA-B9-A5W9-01A-11D-A28G-10	1314599	19822257	39306726	46	18123											
LIN37	126393	hgsc.bcm.edu	37	19	36243734	36243734	+	IGR	DEL	G	G	-			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:36243734delG	ENST00000592984.1	-	0	1634				AC002398.12_ENST00000587767.1_RNA|LIN37_ENST00000301159.9_Splice_Site_p.R64fs|AC002398.9_ENST00000591613.2_3'UTR|AC002398.11_ENST00000591091.1_RNA			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTGGCAAAAGGTAAGGTGGC	0.627																																																0													27	33	31					19																	36243734		2060	4204	6264	SO:0001628	intergenic_variant	55957			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"Heat shock proteins / HSPB"	26511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 91"	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		chr19.hg19:g.36243734delG			O14551|Q6NVI3|Q96MG9	Frame_Shift_Del	DEL	ENST00000592984.1	hg19	CCDS12475.1																																																																																				0.627	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		-	36243734	G	-	36243734	6	5	304	0	1	1	0	1	0	0	0	0	8809	1014	35	0		0	LIN37	19	36243734	IGR	DEL	G	TCGA-B9-A5W9-01A-11D-A28G-10	16421477	36243734	22885249	47	18124											
ZNF835	90485	hgsc.bcm.edu	37	19	57175950	57175950	+	Missense_Mutation	SNP	A	A	G	rs369897881		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:57175950A>G	ENST00000537055.2	-	2	848	c.617T>C	c.(616-618)gTc>gCc	p.V206A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CAGGTGCGTGACGCGCGTGAA	0.716																																																0								A	ALA/VAL	3,4319		0,3,2158	15	16	16		617	-3.4	0	19		16	0,8402		0,0,4201	no	missense	ZNF835	NM_001005850.2	64	0,3,6359	GG,GA,AA		0.0,0.0694,0.0236	benign	206/538	57175950	3,12721	2161	4201	6362	SO:0001583	missense	90485			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.617T>C	chr19.hg19:g.57175950A>G	ENSP00000444747:p.Val206Ala		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	hg19	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	A	7.598	0.672178	0.14776	6.94E-4	0.0	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07114	3.22	2.12	-3.43	0.04810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02807	0.0084	N	0.04245	-0.25	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.45920	-0.9228	9	0.16896	T	0.51	.	4.1371	0.10176	0.246:0.0:0.5433:0.2107	.	228	Q9Y2P0	ZN835_HUMAN	A	228;206	ENSP00000444747:V206A	ENSP00000341756:V228A	V	-	2	0	ZNF835	61867762	0.000000	0.05858	0.000000	0.03702	0.296000	0.27459	-1.731000	0.01853	-0.977000	0.03537	-0.411000	0.06167	GTC		0.716	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		G	57175950	A	G	57175950	3	3	304	1	0	0	0	0	1	0	0	0	18191	275	10	3	998	3	ZNF835	19	57175950	Missense_Mutation	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10	20932216	57175950	1953033	48	18125											
C20orf186	149954	hgsc.bcm.edu	37	20	31685559	31685559	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr20:31685559A>T	ENST00000375483.3	+	11	1535	c.1535A>T	c.(1534-1536)aAa>aTa	p.K512I		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	512						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCCCAGCCCAAAGACCTGGAG	0.577																																																0													100	72	81					20																	31685559		2203	4300	6503	SO:0001583	missense	149954			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1535A>T	chr20.hg19:g.31685559A>T	ENSP00000364632:p.Lys512Ile		Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	hg19	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582504	0.46006	.	.	ENSG00000186191	ENST00000375483	T	0.07327	3.2	5.26	5.26	0.73747	.	0.240028	0.35067	N	0.003468	T	0.07279	0.0184	N	0.24115	0.695	0.24134	N	0.995755	B	0.30937	0.301	B	0.31812	0.136	T	0.27773	-1.0064	10	0.62326	D	0.03	-11.2987	11.8323	0.52303	1.0:0.0:0.0:0.0	.	512	P59827	BPIB4_HUMAN	I	512	ENSP00000364632:K512I	ENSP00000364632:K512I	K	+	2	0	BPIFB4	31149220	0.981000	0.34729	0.940000	0.37924	0.577000	0.36160	2.261000	0.43276	2.108000	0.64289	0.379000	0.24179	AAA		0.577	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		T	31685559	A	T	31685559	3	4	304	1	0	0	0	0	1	0	0	0	2100	14	1	5	1577	5	C20orf186	20	31685559	Missense_Mutation	SNP	A	TCGA-B9-A5W9-01A-11D-A28G-10		31685559	31339961	49	18126											
KIAA1210	57481	hgsc.bcm.edu	37	X	118219440	118219440	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chrX:118219440T>G	ENST00000402510.2	-	12	4753	c.4754A>C	c.(4753-4755)aAg>aCg	p.K1585T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1585										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACTCTTCTGCTTCTGCTTTGC	0.448																																																0													108	96	99					X																	118219440		1887	4103	5990	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4754A>C	chrX.hg19:g.118219440T>G	ENSP00000384670:p.Lys1585Thr		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	hg19	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.05|11.05	1.525709|1.525709	0.27299|0.27299	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.22743	.|1.94	5.16|5.16	-4.73|-4.73	0.03259|0.03259	.|.	.|.	.|.	.|.	.|.	T|T	0.32912|0.32912	0.0845|0.0845	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|D	.|0.62365	.|0.991	.|P	.|0.61070	.|0.883	T|T	0.21930|0.21930	-1.0231|-1.0231	5|9	.|0.35671	.|T	.|0.21	.|.	12.3761|12.3761	0.55281|0.55281	0.0:0.2909:0.0:0.7091|0.0:0.2909:0.0:0.7091	.|.	.|1585	.|Q9ULL0	.|K1210_HUMAN	D|T	991|1585	.|ENSP00000384670:K1585T	.|ENSP00000384670:K1585T	E|K	-|-	3|2	2|0	KIAA1210|RP13-347D8.6	118103468|118103468	0.049000|0.049000	0.20398|0.20398	0.001000|0.001000	0.08648|0.08648	0.044000|0.044000	0.14063|0.14063	-0.389000|-0.389000	0.07342|0.07342	-1.098000|-1.098000	0.03038|0.03038	0.486000|0.486000	0.48141|0.48141	GAA|AAG		0.448	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		G	118219440	T	G	118219440	3	3	304	1	0	0	0	0	1	0	0	0	8216	1609	56	5	387	5	KIAA1210	23	118219440	Missense_Mutation	SNP	T	TCGA-B9-A5W9-01A-11D-A28G-10		118219440	37051120	50	18127											
ALPL	249	hgsc.bcm.edu	37	1	21889674	21889674	+	Silent	SNP	C	C	A	rs201342272		TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:21889674C>A	ENST00000374840.3	+	5	619	c.369C>A	c.(367-369)gcC>gcA	p.A123A	ALPL_ENST00000539907.1_Silent_p.A46A|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000540617.1_Silent_p.A68A|ALPL_ENST00000425315.2_Silent_p.A123A|ALPL_ENST00000374832.1_Silent_p.A123A	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	123					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGGTGAAGGCCAATGAGGGCA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17698	0.0		0.0	False		,,,				2504	0.001															0													84	75	78					1																	21889674		2203	4300	6503	SO:0001819	synonymous_variant	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.369C>A	chr1.hg19:g.21889674C>A			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Silent	SNP	ENST00000374840.3	hg19	CCDS217.1																																																																																				0.652	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		A	21889674	C	A	21889674	2	1	305	1	0	0	0	0	0	0	0	1	547	581	21	4		4	ALPL	1	21889674	Silent	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10		21889674	227360947	1	18128											
FAM46B	115572	hgsc.bcm.edu	37	1	27333078	27333078	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:27333078A>T	ENST00000289166.5	-	2	800	c.635T>A	c.(634-636)tTt>tAt	p.F212Y		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	212										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGAATTCAAACTGGCGTCT	0.552																																																0													108	110	110					1																	27333078		2203	4300	6503	SO:0001583	missense	115572			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.635T>A	chr1.hg19:g.27333078A>T	ENSP00000289166:p.Phe212Tyr			Missense_Mutation	SNP	ENST00000289166.5	hg19	CCDS294.2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507004	0.85282	.	.	ENSG00000158246	ENST00000289166	T	0.28454	1.61	5.2	5.2	0.72013	Domain of unknown function DUF1693 (1);	0.045170	0.85682	D	0.000000	T	0.57066	0.2028	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.61133	-0.7124	10	0.56958	D	0.05	-1.9476	15.2153	0.73261	1.0:0.0:0.0:0.0	.	212	Q96A09	FA46B_HUMAN	Y	212	ENSP00000289166:F212Y	ENSP00000289166:F212Y	F	-	2	0	FAM46B	27205665	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.135000	0.94478	2.178000	0.69098	0.459000	0.35465	TTT		0.552	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		T	27333078	A	T	27333078	3	4	305	1	0	0	0	0	1	0	0	0	5568	14	1	5	646	5	FAM46B	1	27333078	Missense_Mutation	SNP	A	TCGA-B9-A69E-01A-11D-A31X-10	5443404	27333078	221917543	2	18129											
C1orf94	84970	hgsc.bcm.edu	37	1	34643683	34643683	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:34643683G>C	ENST00000488417.1	+	1	413	c.293G>C	c.(292-294)aGa>aCa	p.R98T	AC115286.1_ENST00000408126.1_RNA|C1orf94_ENST00000373374.3_Intron	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	98										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGAACTCTAAGAGGCAATGAG	0.537																																																0													73	69	70					1																	34643683		692	1591	2283	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.293G>C	chr1.hg19:g.34643683G>C	ENSP00000435634:p.Arg98Thr		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	hg19	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	G	0.083	-1.180380	0.01633	.	.	ENSG00000142698	ENST00000488417	T	0.44881	0.91	4.99	2.08	0.27032	.	.	.	.	.	T	0.26666	0.0652	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.23261	-1.0193	9	0.66056	D	0.02	.	5.0027	0.14273	0.1877:0.173:0.6393:0.0	.	98	Q6P1W5	CA094_HUMAN	T	98	ENSP00000435634:R98T	ENSP00000435634:R98T	R	+	2	0	C1orf94	34416270	0.867000	0.29959	0.005000	0.12908	0.004000	0.04260	1.134000	0.31442	0.277000	0.22141	0.655000	0.94253	AGA		0.537	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		C	34643683	G	C	34643683	3	2	305	1	0	0	0	0	1	0	0	0	2073	942	33	4	295	4	C1orf94	1	34643683	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	7310605	34643683	214606938	3	18130											
ZCCHC11	23318	hgsc.bcm.edu	37	1	52897102	52897102	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:52897102G>T	ENST00000371544.3	-	28	4553	c.4291C>A	c.(4291-4293)Cag>Aag	p.Q1431K	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.Q1432K	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1431	Gln-rich.|Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGAAATGGCTGAGGCTGAGGA	0.393																																																0													32	29	30					1																	52897102		2203	4298	6501	SO:0001583	missense	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4291C>A	chr1.hg19:g.52897102G>T	ENSP00000360599:p.Gln1431Lys		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	hg19	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.48|15.48	2.847224|2.847224	0.51164|0.51164	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000531722|ENST00000474453	T;T|.	0.46451|.	0.87;0.88|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.248184|.	0.35466|.	N|.	0.003196|.	T|.	0.55433|.	0.1920|.	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	P|.	0.40144|.	0.704|.	B|.	0.32022|.	0.139|.	T|.	0.50668|.	-0.8801|.	10|.	0.40728|.	T|.	0.16|.	.|.	18.8838|18.8838	0.92367|0.92367	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1431|.	Q5TAX3|.	TUT4_HUMAN|.	K|X	1432;1431;269|276	ENSP00000257177:Q1432K;ENSP00000360599:Q1431K|.	ENSP00000257177:Q1432K|.	Q|S	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52669690|52669690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.423000|5.423000	0.66458|0.66458	2.459000|2.459000	0.83118|0.83118	0.557000|0.557000	0.71058|0.71058	CAG|TCA		0.393	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		T	52897102	G	T	52897102	3	4	305	1	0	0	0	0	1	0	0	0	17585	1299	45	4	655	4	ZCCHC11	1	52897102	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	18253419	52897102	196353519	4	18131											
SPTA1	6708	hgsc.bcm.edu	37	1	158639217	158639217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:158639217delG	ENST00000368147.4	-	14	1994	c.1814delC	c.(1813-1815)gcafs	p.A605fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	605					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCATCATCTGCCAACTTTTT	0.408																																																0													285	268	273					1																	158639217		1915	4136	6051	SO:0001589	frameshift_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1814delC	chr1.hg19:g.158639217delG	ENSP00000357129:p.Ala605fs		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Del	DEL	ENST00000368147.4	hg19	CCDS41423.1																																																																																				0.408	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		-	158639217	G	-	158639217	7	5	305	1	0	1	0	1	0	0	0	0	15121	1319	46	0	5601	0	SPTA1	1	158639217	Frame_Shift_Del	DEL	G	TCGA-B9-A69E-01A-11D-A31X-10	105742115	158639217	90611404	5	18132											
RABIF	5877	hgsc.bcm.edu	37	1	202850297	202850297	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:202850297C>T	ENST00000367262.3	-	2	217	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	61					membrane fusion (GO:0061025)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGATCGCCGTCAGGATTGCTG	0.507																																																0													68	64	65					1																	202850297		2203	4300	6503	SO:0001583	missense	5877			S78873	CCDS1428.1	1q32.1	2008-05-14			ENSG00000183155	ENSG00000183155			9797	protein-coding gene	gene with protein product		603417		RASGRF3		9441742, 7619808	Standard	NM_002871		Approved	mss4	uc001gyl.3	P47224	OTTHUMG00000041400	ENST00000367262.3:c.181G>A	chr1.hg19:g.202850297C>T	ENSP00000356231:p.Asp61Asn		B2R4P4|Q92992	Missense_Mutation	SNP	ENST00000367262.3	hg19	CCDS1428.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382058	0.24944	.	.	ENSG00000183155	ENST00000367262	.	.	.	5.75	4.84	0.62591	Mss4-like (1);Mss4/translationally controlled tumour-associated TCTP (1);	0.332353	0.37136	N	0.002226	T	0.55955	0.1953	L	0.40543	1.245	0.80722	D	1	B	0.25809	0.135	B	0.29176	0.099	T	0.55528	-0.8127	9	0.51188	T	0.08	-57.0511	14.6684	0.68926	0.0:0.9296:0.0:0.0704	.	61	P47224	MSS4_HUMAN	N	61	.	ENSP00000356231:D61N	D	-	1	0	RABIF	201116920	1.000000	0.71417	0.009000	0.14445	0.008000	0.06430	5.492000	0.66893	1.447000	0.47661	-0.254000	0.11334	GAC		0.507	RABIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099183.1			T	202850297	C	T	202850297	3	4	305	1	0	0	0	0	1	0	0	0	12975	826	29	2	194	2	RABIF	1	202850297	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	44211080	202850297	46400324	6	18133											
CENPF	1063	hgsc.bcm.edu	37	1	214826247	214826247	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:214826247T>C	ENST00000366955.3	+	16	8405	c.8237T>C	c.(8236-8238)aTa>aCa	p.I2746T	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2842	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGCTGGAGATAGACCTTTTA	0.328																																					Colon(80;575 1284 11000 14801 43496)											0													91	94	93					1																	214826247		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8237T>C	chr1.hg19:g.214826247T>C	ENSP00000355922:p.Ile2746Thr		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.757432	0.31137	.	.	ENSG00000117724	ENST00000366955;ENST00000391896	T	0.04234	3.67	3.93	3.93	0.45458	.	.	.	.	.	T	0.05410	0.0143	L	0.47716	1.5	0.20489	N	0.999898	B	0.33694	0.421	B	0.22152	0.038	T	0.28106	-1.0054	9	0.42905	T	0.14	.	11.9872	0.53155	0.0:0.0:0.0:1.0	.	2842	P49454	CENPF_HUMAN	T	2746;145	ENSP00000355922:I2746T	ENSP00000355922:I2746T	I	+	2	0	CENPF	212892870	0.990000	0.36364	0.042000	0.18584	0.923000	0.55619	3.757000	0.55212	1.429000	0.47314	0.418000	0.28097	ATA		0.328	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		C	214826247	T	C	214826247	3	2	305	1	0	0	0	0	1	0	0	0	3233	1406	49	3	8295	3	CENPF	1	214826247	Missense_Mutation	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10	11975950	214826247	34424374	7	18134											
OBSCN	84033	hgsc.bcm.edu	37	1	228511117	228511117	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:228511117G>A	ENST00000422127.1	+	56	15506	c.15462G>A	c.(15460-15462)atG>atA	p.M5154I	OBSCN_ENST00000366707.4_Missense_Mutation_p.M2788I|OBSCN_ENST00000284548.11_Missense_Mutation_p.M5154I|OBSCN_ENST00000570156.2_Missense_Mutation_p.M6111I|OBSCN_ENST00000366709.4_Missense_Mutation_p.M2273I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5154	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCAGCCCATGCCCAGTGTGC	0.522																																																0													92	94	93					1																	228511117		2155	4253	6408	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15462G>A	chr1.hg19:g.228511117G>A	ENSP00000409493:p.Met5154Ile		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431705	0.25813	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.07	5.07	0.68467	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.660669	0.14435	N	0.319744	T	0.46034	0.1372	N	0.04959	-0.14	0.27969	N	0.936468	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13629	-1.0502	10	0.16896	T	0.51	.	15.681	0.77367	0.0:0.2016:0.7984:0.0	.	5154;5154	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	I	5154;5154;2788;2273	ENSP00000284548:M5154I;ENSP00000409493:M5154I;ENSP00000355668:M2788I;ENSP00000355670:M2273I	ENSP00000284548:M5154I	M	+	3	0	OBSCN	226577740	1.000000	0.71417	0.991000	0.47740	0.034000	0.12701	1.113000	0.31184	2.629000	0.89072	0.655000	0.94253	ATG		0.522	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228511117	G	A	228511117	3	1	305	1	0	0	0	0	1	0	0	0	10814	1319	46	2	15680	2	OBSCN	1	228511117	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	13684870	228511117	20739504	8	18135											
OR2W3	343171	hgsc.bcm.edu	37	1	248059782	248059782	+	Silent	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr1:248059782G>A	ENST00000360358.3	+	1	894	c.894G>A	c.(892-894)aaG>aaA	p.K298K	OR2W3_ENST00000537741.1_Silent_p.K298K	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGAGGTGAAGGGGGCACTGG	0.537																																																0													39	40	40					1																	248059782		2203	4300	6503	SO:0001819	synonymous_variant	343171			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.894G>A	chr1.hg19:g.248059782G>A			Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	hg19	CCDS31099.1																																																																																				0.537	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		A	248059782	G	A	248059782	2	1	305	1	0	0	0	0	0	0	0	1	11035	991	35	2		2	OR2W3	1	248059782	Silent	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	19548665	248059782	1190839	9	18136											
LRPPRC	10128	hgsc.bcm.edu	37	2	44116985	44116986	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr2:44116985_44116986GC>AG	ENST00000260665.7	-	37	4072_4073	c.4015_4016GC>CT	c.(4015-4017)GCa>CTa	p.A1339L	RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1339	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCATACAGTGCTTTAGCAGAT	0.366																																																0																																										SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.4015_4016delinsAG	chr2.hg19:g.44116985_44116986delinsAG	ENSP00000260665:p.Ala1339Leu		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	hg19	CCDS33189.1																																																																																				0.366	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		AG	44116986	GC	AG	44116985	3	1	305	1	0	0	0	0	1	0	0	0	8967	1319	46	2	176	2	LRPPRC	2	44116985	Missense_Mutation	DNP	GC	TCGA-B9-A69E-01A-11D-A31X-10		44116985	199082388	10	18137											
ROBO2	6092	hgsc.bcm.edu	37	3	77671536	77671536	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr3:77671536A>T	ENST00000461745.1	+	23	4613	c.3713A>T	c.(3712-3714)gAc>gTc	p.D1238V	ROBO2_ENST00000487694.3_Missense_Mutation_p.D1254V|ROBO2_ENST00000332191.8_Missense_Mutation_p.D1238V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1238					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGAGCACTGGACCAGACTCCT	0.463																																																0													74	77	76					3																	77671536		1902	4120	6022	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3713A>T	chr3.hg19:g.77671536A>T	ENSP00000417164:p.Asp1238Val		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	hg19	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917020	0.52546	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	T;T;T	0.61510	0.1;0.14;0.12	5.56	5.56	0.83823	.	0.299670	0.23303	N	0.049659	T	0.43897	0.1268	N	0.08118	0	0.30052	N	0.811715	B;B;B	0.26512	0.151;0.096;0.151	B;B;B	0.34093	0.086;0.175;0.086	T	0.56667	-0.7941	9	0.56958	D	0.05	.	15.6959	0.77499	1.0:0.0:0.0:0.0	.	1254;1238;1238	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	V	1254;1254;1238;1238	ENSP00000417335:D1254V;ENSP00000417164:D1238V;ENSP00000327536:D1238V	ENSP00000327536:D1238V	D	+	2	0	ROBO2	77754226	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	8.962000	0.93254	2.110000	0.64415	0.528000	0.53228	GAC		0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		T	77671536	A	T	77671536	3	4	305	1	0	0	0	0	1	0	0	0	13520	275	10	5	3805	5	ROBO2	3	77671536	Missense_Mutation	SNP	A	TCGA-B9-A69E-01A-11D-A31X-10		77671536	120350894	11	18138											
ATP6V1A	523	hgsc.bcm.edu	37	3	113505224	113505224	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr3:113505224T>C	ENST00000273398.3	+	6	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L204P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																																0													219	201	207					3																	113505224		2203	4300	6503	SO:0001583	missense	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710T>C	chr3.hg19:g.113505224T>C	ENSP00000273398:p.Leu237Pro		B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	hg19	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972517	0.74246	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	D;D	0.84223	-1.82;-1.82	5.33	4.17	0.49024	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94062	0.8097	H	0.96208	3.785	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.94260	0.7501	10	0.87932	D	0	-16.1423	10.9912	0.47551	0.0:0.0737:0.0:0.9263	.	237	P38606	VATA_HUMAN	P	237;204	ENSP00000273398:L237P;ENSP00000439874:L204P	ENSP00000273398:L237P	L	+	2	0	ATP6V1A	114987914	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.484000	0.81180	0.873000	0.35799	-0.353000	0.07706	CTT		0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		C	113505224	T	C	113505224	3	2	305	1	0	0	0	0	1	0	0	0	1177	1609	56	3	728	3	ATP6V1A	3	113505224	Missense_Mutation	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10	35833688	113505224	84517206	12	18139											
AMOTL2	51421	hgsc.bcm.edu	37	3	134078995	134078995	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr3:134078995A>C	ENST00000422605.2	-	7	2002	c.1836T>G	c.(1834-1836)aaT>aaG	p.N612K	AMOTL2_ENST00000513145.1_Missense_Mutation_p.N610K|AMOTL2_ENST00000514516.1_Missense_Mutation_p.N670K|AMOTL2_ENST00000249883.5_Missense_Mutation_p.N612K			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	612					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCAGACCCTCATTGAAGCTGC	0.622																																																0													57	50	52					3																	134078995		2203	4300	6503	SO:0001583	missense	51421			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1836T>G	chr3.hg19:g.134078995A>C	ENSP00000409999:p.Asn612Lys		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	hg19		.	.	.	.	.	.	.	.	.	.	A	16.66	3.183876	0.57800	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.17370	2.29;2.29;2.28;2.29	5.23	-0.975	0.10289	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	L	0.57536	1.79	0.58432	D	0.999996	D;D;D	0.64830	0.992;0.992;0.994	P;P;D	0.63793	0.866;0.866;0.918	T	0.14727	-1.0462	10	0.11794	T	0.64	-26.2587	11.2577	0.49063	0.5554:0.0:0.4446:0.0	.	610;612;670	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	K	612;612;670;610	ENSP00000249883:N612K;ENSP00000409999:N612K;ENSP00000424765:N670K;ENSP00000425475:N610K	ENSP00000249883:N612K	N	-	3	2	AMOTL2	135561685	0.461000	0.25783	0.993000	0.49108	0.925000	0.55904	-0.316000	0.08071	-0.263000	0.09378	-0.441000	0.05720	AAT		0.622	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		C	134078995	A	C	134078995	3	2	305	1	0	0	0	0	1	0	0	0	584	214	8	5	522	5	AMOTL2	3	134078995	Missense_Mutation	SNP	A	TCGA-B9-A69E-01A-11D-A31X-10	20573771	134078995	63943435	13	18140											
SLC25A36	55186	hgsc.bcm.edu	37	3	140675502	140675502	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr3:140675502G>A	ENST00000324194.6	+	2	343	c.175G>A	c.(175-177)Gta>Ata	p.V59I	SLC25A36_ENST00000453248.2_Missense_Mutation_p.V59I|SLC25A36_ENST00000446041.2_Missense_Mutation_p.V59I|SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000507429.1_Missense_Mutation_p.V59I			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	59					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TGTCAACCGAGTAGTGTCTCC	0.433																																																0													140	135	137					3																	140675502		2203	4300	6503	SO:0001583	missense	55186			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"Solute carriers"	25554	protein-coding gene	gene with protein product			"solute carrier family 25, member 36"				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.175G>A	chr3.hg19:g.140675502G>A	ENSP00000320688:p.Val59Ile		A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	hg19	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666084	0.29604	.	.	ENSG00000114120	ENST00000446041;ENST00000507429;ENST00000324194;ENST00000453248;ENST00000513887	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.17	5.29	-0.772	0.10998	Mitochondrial carrier domain (2);	0.517046	0.21808	N	0.068811	T	0.62551	0.2437	L	0.31578	0.945	0.09310	N	0.999996	B;B;B;B	0.13594	0.0;0.001;0.008;0.0	B;B;B;B	0.13407	0.005;0.003;0.009;0.005	T	0.43130	-0.9410	10	0.23302	T	0.38	-6.1006	11.8956	0.52654	0.3779:0.0:0.6221:0.0	.	59;59;59;59	B4DL01;Q96CQ1-3;Q96CQ1;F6SDC8	.;.;S2536_HUMAN;.	I	59;59;59;59;9	ENSP00000401938:V59I;ENSP00000421470:V59I;ENSP00000320688:V59I;ENSP00000391521:V59I	ENSP00000320688:V59I	V	+	1	0	SLC25A36	142158192	0.994000	0.37717	0.770000	0.31555	0.903000	0.53119	1.349000	0.33998	-0.689000	0.05149	-0.813000	0.03139	GTA		0.433	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		A	140675502	G	A	140675502	3	1	305	1	0	0	0	0	1	0	0	0	14506	1029	36	2	181	2	SLC25A36	3	140675502	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	6596507	140675502	57346928	14	18141											
MED12L	116931	hgsc.bcm.edu	37	3	151107816	151107816	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr3:151107816T>G	ENST00000474524.1	+	36	5434	c.5396T>G	c.(5395-5397)aTc>aGc	p.I1799S	MED12L_ENST00000273432.4_Missense_Mutation_p.I1659S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1799						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACTCGCCTATCTCCTCCCAA	0.468																																																0													175	171	172					3																	151107816		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5396T>G	chr3.hg19:g.151107816T>G	ENSP00000417235:p.Ile1799Ser		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	hg19	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.440148	0.43326	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.60171	0.43;0.21	5.73	5.73	0.89815	.	0.222920	0.46442	D	0.000300	T	0.39682	0.1087	N	0.08118	0	0.32093	N	0.591569	B;B	0.23058	0.005;0.079	B;B	0.19666	0.002;0.026	T	0.52132	-0.8616	10	0.87932	D	0	-5.497	14.2508	0.66019	0.0:0.0:0.0:1.0	.	1659;1799	F8WAE6;Q86YW9	.;MD12L_HUMAN	S	1799;1659	ENSP00000417235:I1799S;ENSP00000273432:I1659S	ENSP00000273432:I1659S	I	+	2	0	MED12L	152590506	0.493000	0.26035	0.865000	0.33974	0.987000	0.75469	3.781000	0.55394	2.186000	0.69663	0.459000	0.35465	ATC		0.468	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		G	151107816	T	G	151107816	3	3	305	1	0	0	0	0	1	0	0	0	9431	1435	50	5	5538	5	MED12L	3	151107816	Missense_Mutation	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10	10432314	151107816	46914614	15	18142											
DOK7	285489	hgsc.bcm.edu	37	4	3478120	3478121	+	Frame_Shift_Ins	INS	-	-	GGCTA	rs376659660|rs539942267		TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr4:3478120_3478121insGGCTA	ENST00000340083.5	+	4	448_449	c.383_384insGGCTA	c.(382-387)ccggctfs	p.-129fs	DOK7_ENST00000507039.1_Frame_Shift_Ins_p.-129fs|DOK7_ENST00000389653.2_Frame_Shift_Ins_p.-129fs	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7						neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAGAGCGGCCCGGCTACCCTGC	0.668																																																0																																										SO:0001589	frameshift_variant	285489			AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.384_388dupGGCTA	chr4.hg19:g.3478121_3478125dupGGCTA	ENSP00000344432:p.Ala129fs		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Frame_Shift_Ins	INS	ENST00000340083.5	hg19	CCDS3370.2																																																																																				0.668	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		GGCTA	3478121	-	GGCTA	3478120	7	5	305	1	0	1	1	0	0	0	0	0	4704	652	23	0	397	0	DOK7	4	3478120	Frame_Shift_Ins	INS	-	TCGA-B9-A69E-01A-11D-A31X-10		3478120	187676156	16	18143											
TLR10	81793	hgsc.bcm.edu	37	4	38776735	38776735	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr4:38776735G>T	ENST00000308973.4	-	4	1082	c.477C>A	c.(475-477)ttC>ttA	p.F159L	TLR10_ENST00000506111.1_Missense_Mutation_p.F159L|TLR10_ENST00000361424.2_Missense_Mutation_p.F159L|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.F159L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	159					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CAATTTTCTGGAAATCTGATT	0.398																																																0													57	61	59					4																	38776735		2202	4299	6501	SO:0001583	missense	81793			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.477C>A	chr4.hg19:g.38776735G>T	ENSP00000308925:p.Phe159Leu		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	hg19	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	1.875	-0.459352	0.04508	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.23	2.42	0.29668	.	0.111310	0.38272	N	0.001753	T	0.07503	0.0189	N	0.17082	0.46	0.41978	D	0.990781	B	0.09022	0.002	B	0.10450	0.005	T	0.20107	-1.0285	10	0.10636	T	0.68	.	4.4622	0.11671	0.1433:0.1228:0.6077:0.1263	.	159	Q9BXR5	TLR10_HUMAN	L	159	ENSP00000308925:F159L;ENSP00000421483:F159L;ENSP00000354459:F159L;ENSP00000424923:F159L	ENSP00000308925:F159L	F	-	3	2	TLR10	38453130	0.010000	0.17322	1.000000	0.80357	0.982000	0.71751	-0.202000	0.09451	1.211000	0.43351	0.655000	0.94253	TTC		0.398	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			T	38776735	G	T	38776735	3	4	305	1	0	0	0	0	1	0	0	0	15955	1165	41	4	1962	4	TLR10	4	38776735	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	35298615	38776735	152377541	17	18144											
SYNPO2	171024	hgsc.bcm.edu	37	4	119952865	119952865	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr4:119952865T>A	ENST00000429713.2	+	4	3117	c.2935T>A	c.(2935-2937)Ttc>Atc	p.F979I	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.F979I|SYNPO2_ENST00000307142.4_Missense_Mutation_p.F979I	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	979						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTGTTTACTTTCCAACCTCC	0.498																																																0													96	78	84					4																	119952865		2203	4300	6503	SO:0001583	missense	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2935T>A	chr4.hg19:g.119952865T>A	ENSP00000395143:p.Phe979Ile		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	hg19	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.425277|4.425277	0.83667|0.83667	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.16324|.	2.35;2.39;2.37|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000004|0.000004	T|T	0.75398|0.75398	0.3844|0.3844	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;0.999;0.991|.	D;D;D;D|.	0.80764|.	0.994;0.992;0.991;0.955|.	T|T	0.76713|0.76713	-0.2858|-0.2858	9|6	.|.	.|.	.|.	-21.6986|-21.6986	15.246|15.246	0.73507|0.73507	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	979;979;979;979|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	I|Y	979|930	ENSP00000306015:F979I;ENSP00000395143:F979I;ENSP00000390965:F979I|.	.|.	F|F	+|+	1|2	0|0	SYNPO2|SYNPO2	120172313|120172313	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	7.841000|7.841000	0.86834|0.86834	2.013000|2.013000	0.59113|0.59113	0.533000|0.533000	0.62120|0.62120	TTC|TTT		0.498	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			A	119952865	T	A	119952865	3	1	305	1	0	0	0	0	1	0	0	0	15462	1841	64	5	2949	5	SYNPO2	4	119952865	Missense_Mutation	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10	81176130	119952865	71201411	18	18145											
ODZ3	55714	hgsc.bcm.edu	37	4	183245385	183245385	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr4:183245385C>A	ENST00000511685.1	+	2	335	c.212C>A	c.(211-213)gCa>gAa	p.A71E	TENM3_ENST00000406950.2_Missense_Mutation_p.A71E			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	71	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CACAGAGAAGCAGACGAGTTC	0.458																																																0													98	97	98					4																	183245385		1955	4146	6101	SO:0001583	missense	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.212C>A	chr4.hg19:g.183245385C>A	ENSP00000424226:p.Ala71Glu		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	hg19	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184679	0.57909	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.31769	1.48;1.48;1.48	5.65	5.65	0.86999	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.52256	0.1723	L	0.60455	1.87	0.30938	N	0.726181	D;P	0.62365	0.991;0.77	P;B	0.61132	0.884;0.255	T	0.51934	-0.8642	9	0.72032	D	0.01	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	71;71	D6RGC5;Q9P273	.;TEN3_HUMAN	E	71	ENSP00000421320:A71E;ENSP00000424226:A71E;ENSP00000385276:A71E	ENSP00000385276:A71E	A	+	2	0	ODZ3	183482379	0.995000	0.38212	0.986000	0.45419	0.986000	0.74619	3.658000	0.54482	2.941000	0.99782	0.655000	0.94253	GCA		0.458	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			A	183245385	C	A	183245385	3	1	305	1	0	0	0	0	1	0	0	0	10838	710	25	4	214	4	ODZ3	4	183245385	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	63292520	183245385	7908891	19	18146											
FAT1	2195	hgsc.bcm.edu	37	4	187517964	187517964	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr4:187517964C>G	ENST00000441802.2	-	25	12939	c.12730G>C	c.(12730-12732)Gac>Cac	p.D4244H	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4244					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTGGTATGTCTGAGTAAATG	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													70	69	69					4																	187517964		1861	4100	5961	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12730G>C	chr4.hg19:g.187517964C>G	ENSP00000406229:p.Asp4244His			Missense_Mutation	SNP	ENST00000441802.2	hg19	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.443680|4.443680	0.83993|0.83993	.|.	.|.	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147|ENST00000512772	T|.	0.70869|.	-0.52|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72961|0.72961	0.3526|0.3526	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.69304|0.69304	-0.5180|-0.5180	10|5	0.66056|.	D|.	0.02|.	.|.	19.3359|19.3359	0.94319|0.94319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4244|.	Q14517|.	FAT1_HUMAN|.	H|T	4244;4246|11	ENSP00000406229:D4244H|.	ENSP00000260147:D4246H|.	D|R	-|-	1|2	0|0	FAT1|FAT1	187754958|187754958	1.000000|1.000000	0.71417|0.71417	0.831000|0.831000	0.32960|0.32960	0.737000|0.737000	0.42083|0.42083	7.651000|7.651000	0.83577|0.83577	2.809000|2.809000	0.96659|0.96659	0.555000|0.555000	0.69702|0.69702	GAC|AGA		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		G	187517964	C	G	187517964	3	3	305	1	0	0	0	0	1	0	0	0	5691	913	32	4	1048	4	FAT1	4	187517964	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	4272579	187517964	3636312	20	18147											
TRIP13	9319	hgsc.bcm.edu	37	5	908120	908120	+	Silent	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr5:908120C>T	ENST00000166345.3	+	8	1046	c.690C>T	c.(688-690)acC>acT	p.T230T		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	230					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			AGCTGGTAACCAAGATGTTTC	0.498																																																0													169	149	155					5																	908120		2203	4300	6503	SO:0001819	synonymous_variant	9319			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.690C>T	chr5.hg19:g.908120C>T			C9K0T3|D3DTC0|O15324	Silent	SNP	ENST00000166345.3	hg19	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	8.882	0.951814	0.18431	.	.	ENSG00000071539	ENST00000513435	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	T	0.41259	0.1151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49214	-0.8963	4	.	.	.	-32.367	5.2498	0.15515	0.143:0.5019:0.2154:0.1397	.	.	.	.	L	226	.	.	P	+	2	0	TRIP13	961120	0.006000	0.16342	0.087000	0.20705	0.969000	0.65631	-1.282000	0.02799	-2.592000	0.00456	-0.345000	0.07892	CCA		0.498	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		T	908120	C	T	908120	2	4	305	1	0	0	0	0	0	0	0	1	16562	581	21	2		2	TRIP13	5	908120	Silent	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10		908120	180007140	21	18148											
SRD5A1	6715	hgsc.bcm.edu	37	5	6663046	6663047	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr5:6663046_6663047insT	ENST00000274192.5	+	4	914_915	c.680_681insT	c.(679-684)tgttttfs	p.CF227fs	SRD5A1_ENST00000538824.1_Frame_Shift_Ins_p.CF180fs|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	227					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TTCACGTTTTGTTTTTTATCTG	0.396																																																0																																										SO:0001589	frameshift_variant	6715			M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.686dupT	chr5.hg19:g.6663052_6663052dupT	ENSP00000274192:p.Cys227fs		B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Frame_Shift_Ins	INS	ENST00000274192.5	hg19	CCDS3870.1																																																																																				0.396	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		T	6663047	-	T	6663046	7	5	305	1	0	1	1	0	0	0	0	0	15143	1377	48	0	694	0	SRD5A1	5	6663046	Frame_Shift_Ins	INS	-	TCGA-B9-A69E-01A-11D-A31X-10	5754926	6663046	174252214	22	18149											
CDH12	1010	hgsc.bcm.edu	37	5	21752166	21752166	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr5:21752166T>C	ENST00000382254.1	-	15	3151	c.2065A>G	c.(2065-2067)Att>Gtt	p.I689V	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.I689V|CDH12_ENST00000522262.1_Missense_Mutation_p.I649V|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	689					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCCTGCGAATTTTGTTCTCC	0.458										HNSCC(59;0.17)																																						0													188	161	171					5																	21752166		2203	4300	6503	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2065A>G	chr5.hg19:g.21752166T>C	ENSP00000371689:p.Ile689Val		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	hg19	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	5.372	0.253855	0.10185	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.76186	-1.0;-1.0;-1.0	5.12	3.92	0.45320	Cadherin, cytoplasmic domain (1);	0.479938	0.25538	N	0.029988	T	0.51958	0.1705	N	0.14661	0.345	0.31334	N	0.684456	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.46938	-0.9155	10	0.17369	T	0.5	.	6.6994	0.23217	0.0:0.0776:0.1551:0.7673	.	649;689	B7Z2U6;P55289	.;CAD12_HUMAN	V	689;689;649	ENSP00000423577:I689V;ENSP00000371689:I689V;ENSP00000428786:I649V	ENSP00000371689:I689V	I	-	1	0	CDH12	21787923	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.798000	0.38814	0.765000	0.33221	0.383000	0.25322	ATT		0.458	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		C	21752166	T	C	21752166	3	2	305	1	0	0	0	0	1	0	0	0	3100	1493	52	3	323	3	CDH12	5	21752166	Missense_Mutation	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10	15089120	21752166	159163094	23	18150											
DST	667	hgsc.bcm.edu	37	6	56504731	56504731	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr6:56504731C>T	ENST00000361203.3	-	15	1989	c.1982G>A	c.(1981-1983)aGt>aAt	p.S661N	DST_ENST00000370769.4_Missense_Mutation_p.S661N|DST_ENST00000312431.6_Missense_Mutation_p.S661N|DST_ENST00000421834.2_Missense_Mutation_p.S661N|DST_ENST00000446842.2_Missense_Mutation_p.S335N|DST_ENST00000518935.1_Missense_Mutation_p.S335N|DST_ENST00000244364.6_Missense_Mutation_p.S335N|DST_ENST00000370788.2_Missense_Mutation_p.S661N|DST_ENST00000370754.5_Missense_Mutation_p.S839N|DST_ENST00000370765.6_Missense_Mutation_p.S335N			Q03001	DYST_HUMAN	dystonin	661					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATACCTCACTGATTTTAGC	0.284																																																0													47	51	50					6																	56504731		2203	4299	6502	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1982G>A	chr6.hg19:g.56504731C>T	ENSP00000354508:p.Ser661Asn		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	hg19		.	.	.	.	.	.	.	.	.	.	C	17.97	3.519255	0.64634	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;D;T;T;T;D;T;T	0.83992	1.18;0.02;0.02;0.17;0.96;-1.53;0.13;-0.0;-0.3;-1.79;-0.69;-0.14	5.45	4.58	0.56647	.	0.000000	0.64402	D	0.000017	T	0.80486	0.4632	L	0.44542	1.39	0.29528	N	0.852973	P;B;P;B;D;B;B;P;B;B	0.55385	0.899;0.235;0.944;0.354;0.971;0.016;0.115;0.917;0.235;0.277	B;B;D;B;P;B;B;P;B;B	0.63597	0.401;0.149;0.916;0.149;0.73;0.02;0.134;0.897;0.149;0.329	T	0.78265	-0.2271	9	0.17832	T	0.49	.	14.2099	0.65756	0.0:0.9287:0.0:0.0713	.	690;661;661;839;777;335;335;335;661;335	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	N	335;839;661;661;335;661;661;661;335;701;335;335	ENSP00000244364:S335N;ENSP00000359790:S839N;ENSP00000359805:S661N;ENSP00000400883:S661N;ENSP00000393645:S335N;ENSP00000307959:S661N;ENSP00000359824:S661N;ENSP00000354508:S661N;ENSP00000404924:S335N;ENSP00000431030:S701N;ENSP00000359801:S335N;ENSP00000431003:S335N	ENSP00000244364:S335N	S	-	2	0	DST	56612690	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.897000	0.56273	1.525000	0.49052	0.655000	0.94253	AGT		0.284	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56504731	C	T	56504731	3	4	305	1	0	0	0	0	1	0	0	0	4785	565	20	2	19471	2	DST	6	56504731	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10		56504731	114610336	24	18151											
RIMS1	22999	hgsc.bcm.edu	37	6	72960096	72960096	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr6:72960096C>G	ENST00000521978.1	+	13	2305	c.2305C>G	c.(2305-2307)Cta>Gta	p.L769V	RIMS1_ENST00000520567.1_Missense_Mutation_p.L769V|RIMS1_ENST00000522291.1_Missense_Mutation_p.L769V|RIMS1_ENST00000517827.1_Missense_Mutation_p.L228V|RIMS1_ENST00000264839.7_Missense_Mutation_p.L769V|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000425662.2_Missense_Mutation_p.L162V|RIMS1_ENST00000348717.5_Missense_Mutation_p.L769V|RIMS1_ENST00000517960.1_Missense_Mutation_p.L769V|RIMS1_ENST00000401910.3_Missense_Mutation_p.L243V|RIMS1_ENST00000523963.1_Missense_Mutation_p.L243V|RIMS1_ENST00000518273.1_Missense_Mutation_p.L769V|RIMS1_ENST00000491071.2_Missense_Mutation_p.L769V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	769	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGCAACAGATCTACCTGCTAG	0.348																																																0													89	83	84					6																	72960096		1846	4102	5948	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2305C>G	chr6.hg19:g.72960096C>G	ENSP00000428417:p.Leu769Val		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	hg19	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.83|18.83	3.706633|3.706633	0.68615|0.68615	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827|ENST00000517433	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.82344|.	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6|.	5.28|5.28	4.38|4.38	0.52667|0.52667	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.52532|.	D|.	0.000072|.	T|T	0.69663|0.69663	0.3136|0.3136	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.76494|.	0.999;0.962;0.99;0.99;0.998;0.994;0.99|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;0.983;0.996;0.996;0.999;0.996;0.996|.	T|T	0.74475|0.74475	-0.3653|-0.3653	10|5	0.87932|.	D|.	0|.	-12.8523|-12.8523	10.4795|10.4795	0.44684|0.44684	0.0:0.8222:0.0:0.1778|0.0:0.8222:0.0:0.1778	.|.	228;243;769;228;243;769;769|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	V|C	769;769;769;769;769;769;769;769;769;769;769;769;243;243;162;162;228|342	ENSP00000430101:L769V;ENSP00000275037:L769V;ENSP00000264839:L769V;ENSP00000429959:L769V;ENSP00000430408:L769V;ENSP00000430502:L769V;ENSP00000430932:L769V;ENSP00000428417:L769V;ENSP00000385649:L243V;ENSP00000428328:L243V;ENSP00000411235:L162V;ENSP00000389503:L162V;ENSP00000428367:L228V|.	ENSP00000264839:L769V|.	L|S	+|+	1|2	2|0	RIMS1|RIMS1	73016817|73016817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	4.060000|4.060000	0.57477|0.57477	1.279000|1.279000	0.44446|0.44446	0.585000|0.585000	0.79938|0.79938	CTA|TCT		0.348	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	72960096	C	G	72960096	3	3	305	1	0	0	0	0	1	0	0	0	13373	912	32	4	2518	4	RIMS1	6	72960096	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	16455365	72960096	98154971	25	18152											
AKD1	221264	hgsc.bcm.edu	37	6	109977966	109977966	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr6:109977966delG	ENST00000424296.2	-	8	828	c.752delC	c.(751-753)actfs	p.T251fs	AK9_ENST00000368948.2_Frame_Shift_Del_p.T251fs|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Frame_Shift_Del_p.T251fs	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	251	Adenylate kinase 1.|Glu-rich.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TACTTCTAAAGTTTGGAGAAT	0.318																																																0													57	58	58					6																	109977966		2203	4294	6497	SO:0001589	frameshift_variant	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.752delC	chr6.hg19:g.109977966delG	ENSP00000410186:p.Thr251fs		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	ENST00000424296.2	hg19	CCDS55048.1																																																																																				0.318	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		-	109977966	G	-	109977966	7	5	305	1	0	1	0	1	0	0	0	0	460	1029	36	0	5131	0	AKD1	6	109977966	Frame_Shift_Del	DEL	G	TCGA-B9-A69E-01A-11D-A31X-10	37017870	109977966	61137101	26	18153											
VGLL2	245806	hgsc.bcm.edu	37	6	117591730	117591730	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr6:117591730G>T	ENST00000326274.5	+	3	606	c.416G>T	c.(415-417)cGc>cTc	p.R139L	VGLL2_ENST00000352536.3_Intron	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	139					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		ATGAGCCAGCGCAGCTTCCCC	0.697																																																0													13	15	14					6																	117591730		2195	4285	6480	SO:0001583	missense	245806			AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.416G>T	chr6.hg19:g.117591730G>T	ENSP00000320957:p.Arg139Leu		Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	hg19	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331271	0.95733	.	.	ENSG00000170162	ENST00000326274	T	0.54866	0.55	4.86	4.86	0.63082	.	0.056880	0.64402	D	0.000003	T	0.68393	0.2996	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.72360	-0.4317	10	0.72032	D	0.01	-24.0493	18.1693	0.89740	0.0:0.0:1.0:0.0	.	139	Q8N8G2	VGLL2_HUMAN	L	139	ENSP00000320957:R139L	ENSP00000320957:R139L	R	+	2	0	VGLL2	117698423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.078000	0.94023	2.528000	0.85240	0.549000	0.68633	CGC		0.697	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		T	117591730	G	T	117591730	3	4	305	1	0	0	0	0	1	0	0	0	17164	1087	38	4	426	4	VGLL2	6	117591730	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	7613764	117591730	53523337	27	18154											
C6orf170	221322	hgsc.bcm.edu	37	6	121433801	121433801	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr6:121433801G>T	ENST00000398212.2	-	29	3223	c.3174C>A	c.(3172-3174)tgC>tgA	p.C1058*	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Nonsense_Mutation_p.C1099*	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1058					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TCCCTTGCAGGCAGACTGAAA	0.274																																																0													54	49	50					6																	121433801		1803	4070	5873	SO:0001587	stop_gained	221322			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3174C>A	chr6.hg19:g.121433801G>T	ENSP00000381270:p.Cys1058*		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Nonsense_Mutation	SNP	ENST00000398212.2	hg19	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220888	0.95139	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	.	.	.	5.41	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3109	0.32071	0.3125:0.0:0.6875:0.0	.	.	.	.	X	1099;1058	.	ENSP00000275159:C1099X	C	-	3	2	C6orf170	121475500	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	2.668000	0.46816	0.674000	0.31244	0.585000	0.79938	TGC		0.274	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		T	121433801	G	T	121433801	4	4	305	1	0	0	0	0	0	1	0	0	2346	1195	42	4	615	4	C6orf170	6	121433801	Nonsense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	3842071	121433801	49681266	28	18155											
EGFR	1956	hgsc.bcm.edu	37	7	55272975	55272975	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr7:55272975A>G	ENST00000275493.2	+	28	3475	c.3298A>G	c.(3298-3300)Agg>Ggg	p.R1100G	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.R1047G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1100					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CGTTCCCAAAAGGCCCGCTGG	0.532		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													64	62	62					7																	55272975		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3298A>G	chr7.hg19:g.55272975A>G	ENSP00000275493:p.Arg1100Gly		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	hg19	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447696	0.43429	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	T;T	0.77489	-1.1;-1.09	5.2	4.01	0.46588	.	0.344819	0.30519	N	0.009445	T	0.75324	0.3834	M	0.76328	2.33	0.23865	N	0.996623	B	0.20459	0.045	B	0.18263	0.021	T	0.66720	-0.5852	10	0.49607	T	0.09	.	10.3302	0.43818	0.6825:0.3175:0.0:0.0	.	1100	P00533	EGFR_HUMAN	G	970;1100;1047	ENSP00000275493:R1100G;ENSP00000395243:R1047G	ENSP00000275493:R1100G	R	+	1	2	EGFR	55240469	0.901000	0.30685	1.000000	0.80357	0.979000	0.70002	1.436000	0.34980	0.876000	0.35872	0.456000	0.33151	AGG		0.532	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		G	55272975	A	G	55272975	3	3	305	1	0	0	0	0	1	0	0	0	4969	63	3	3	3672	3	EGFR	7	55272975	Missense_Mutation	SNP	A	TCGA-B9-A69E-01A-11D-A31X-10		55272975	103865688	29	18156											
GPR85	54329	hgsc.bcm.edu	37	7	112724144	112724146	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	ATC	ATC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr7:112724144_112724146delATC	ENST00000297146.3	-	3	1234_1236	c.631_633delGAT	c.(631-633)gatdel	p.D211del	GPR85_ENST00000501255.2_In_Frame_Del_p.D211del|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000424100.1_In_Frame_Del_p.D211del|GPR85_ENST00000449591.1_In_Frame_Del_p.D211del	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	211					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TTTTTCTTCGATCGTGGACGAAA	0.493																																																0																																										SO:0001651	inframe_deletion	54329			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.631_633delGAT	chr7.hg19:g.112724144_112724146delATC	ENSP00000297146:p.Asp211del		Q9JHI6|Q9NPD1	In_Frame_Del	DEL	ENST00000297146.3	hg19	CCDS5758.1																																																																																				0.493	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			-	112724146	ATC	-	112724144	7	5	305	1	0	1	0	1	0	0	0	0	6717	330	12	0	483	0	GPR85	7	112724144	In_Frame_Del	DEL	ATC	TCGA-B9-A69E-01A-11D-A31X-10	57451169	112724144	46414519	30	18157											
RBM28	55131	hgsc.bcm.edu	37	7	127958110	127958111	+	In_Frame_Ins	INS	-	-	GAC			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr7:127958110_127958111insGAC	ENST00000223073.2	-	15	1726_1727	c.1612_1613insGTC	c.(1612-1614)cag>cGTCag	p.537_538insR	RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_In_Frame_Ins_p.396_397insR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	537	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GCCCAGGGACTGACCCTTCATG	0.485																																																0																																										SO:0001652	inframe_insertion	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1610_1612dupGTC	chr7.hg19:g.127958111_127958113dupGAC	ENSP00000223073:p.Gly537_Gln538insArg		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	In_Frame_Ins	INS	ENST00000223073.2	hg19	CCDS5801.1																																																																																				0.485	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		GAC	127958111	-	GAC	127958110	7	5	305	1	0	1	1	0	0	0	0	0	13134	1580	55	0	686	0	RBM28	7	127958110	In_Frame_Ins	INS	-	TCGA-B9-A69E-01A-11D-A31X-10	15233966	127958110	31180553	31	18158											
LSM1	27257	hgsc.bcm.edu	37	8	38027436	38027436	+	Splice_Site	DEL	C	C	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr8:38027436delC	ENST00000311351.4	-	3	511		c.e3-1		LSM1_ENST00000522515.1_Splice_Site|LSM1_ENST00000520755.1_Intron	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					ACTAAGTTTGCTGTAAGTGTA	0.363																																																0													127	118	121					8																	38027436		2203	4300	6503	SO:0001630	splice_region_variant	27257			AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.116-1G>-	chr8.hg19:g.38027436delC			B2R5E6	Frame_Shift_Del	DEL	ENST00000311351.4	hg19	CCDS6103.1																																																																																				0.363	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1	NM_014462	Intron	-	38027436	C	-	38027436	8	5	305	1	0	1	0	1	0	0	1	0	9052	811	28	0	294	0	LSM1	8	38027436	Splice_Site	DEL	C	TCGA-B9-A69E-01A-11D-A31X-10		38027436	108336586	32	18159											
TMEM67	91147	hgsc.bcm.edu	37	8	94805453	94805453	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr8:94805453G>C	ENST00000453321.3	+	16	1661	c.1603G>C	c.(1603-1605)Gct>Cct	p.A535P	TMEM67_ENST00000409623.3_Missense_Mutation_p.A454P	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	535					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GGGTGGGCTAGCTGTTTTAGC	0.368																																																0													157	153	154					8																	94805453		2203	4300	6503	SO:0001583	missense	91147			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1603G>C	chr8.hg19:g.94805453G>C	ENSP00000389998:p.Ala535Pro		B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	hg19	CCDS6258.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.706160|4.706160	0.89018|0.89018	.|.	.|.	ENSG00000164953|ENSG00000164953	ENST00000453321;ENST00000409623|ENST00000520680	D;D|.	0.97256|.	-4.31;-4.31|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.111849|.	0.64402|.	D|.	0.000016|.	T|T	0.78317|0.78317	0.4264|0.4264	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.993;0.996;0.992|.	T|T	0.77584|0.77584	-0.2533|-0.2533	10|5	0.66056|.	D|.	0.02|.	-17.8669|-17.8669	19.6017|19.6017	0.95566|0.95566	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	535;454;454|.	Q5HYA8;B3KRU5;G5E9H2|.	MKS3_HUMAN;.;.|.	P|T	535;454|183	ENSP00000389998:A535P;ENSP00000386966:A454P|.	ENSP00000314488:A525P|.	A|S	+|+	1|2	0|0	TMEM67|TMEM67	94874629|94874629	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.997000|0.997000	0.91878|0.91878	6.318000|6.318000	0.72866|0.72866	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.368	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		C	94805453	G	C	94805453	3	2	305	1	0	0	0	0	1	0	0	0	16201	971	34	4	1803	4	TMEM67	8	94805453	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	56778017	94805453	51558569	33	18160											
RECK	8434	hgsc.bcm.edu	37	9	36091304	36091304	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr9:36091304G>T	ENST00000377966.3	+	10	1615	c.1049G>T	c.(1048-1050)tGt>tTt	p.C350F		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	350					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CAGTTGGGCTGTAGAAACCTT	0.353																																																0													119	109	112					9																	36091304		2203	4300	6503	SO:0001583	missense	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1049G>T	chr9.hg19:g.36091304G>T	ENSP00000367202:p.Cys350Phe		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	hg19	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556454	0.86231	.	.	ENSG00000122707	ENST00000377966	T	0.73575	-0.76	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85999	0.5828	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86690	0.1922	10	0.87932	D	0	-10.6063	16.0667	0.80887	0.0:0.0:1.0:0.0	.	350;350	A8K9D8;O95980	.;RECK_HUMAN	F	350	ENSP00000367202:C350F	ENSP00000367202:C350F	C	+	2	0	RECK	36081304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.854000	0.98071	0.655000	0.94253	TGT		0.353	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			T	36091304	G	T	36091304	3	4	305	1	0	0	0	0	1	0	0	0	13206	1377	48	4	1087	4	RECK	9	36091304	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10		36091304	105122127	34	18161											
DNAJC25	548645	hgsc.bcm.edu	37	9	114412019	114412019	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr9:114412019A>G	ENST00000313525.3	+	3	832	c.776A>G	c.(775-777)tAt>tGt	p.Y259C	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	259						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						CTATGCTCATATATAGTTTGG	0.328																																																0													48	50	49					9																	114412019		1817	4067	5884	SO:0001583	missense	548645				CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"Heat shock proteins / DNAJ (HSP40)"	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.776A>G	chr9.hg19:g.114412019A>G	ENSP00000320650:p.Tyr259Cys		Q5QTD8|Q96BN9	Missense_Mutation	SNP	ENST00000313525.3	hg19	CCDS43862.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039309	0.55003	.	.	ENSG00000059769	ENST00000313525	T	0.52057	0.68	6.17	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	M	0.79475	2.455	0.80722	D	1	B	0.20887	0.049	B	0.19666	0.026	T	0.49244	-0.8960	10	0.56958	D	0.05	-6.1843	11.1739	0.48588	0.9308:0.0:0.0692:0.0	.	259	Q9H1X3	DJC25_HUMAN	C	259	ENSP00000320650:Y259C	ENSP00000320650:Y259C	Y	+	2	0	DNAJC25	113451840	1.000000	0.71417	0.055000	0.19348	0.793000	0.44817	6.943000	0.75934	1.144000	0.42321	0.533000	0.62120	TAT		0.328	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		G	114412019	A	G	114412019	3	3	305	1	0	0	0	0	1	0	0	0	4645	449	16	3	786	3	DNAJC25	9	114412019	Missense_Mutation	SNP	A	TCGA-B9-A69E-01A-11D-A31X-10	78320715	114412019	26801412	35	18162											
MLLT10	8028	hgsc.bcm.edu	37	10	21970293	21970293	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr10:21970293T>A	ENST00000307729.7	+	12	1832	c.1654T>A	c.(1654-1656)Tgc>Agc	p.C552S	MLLT10_ENST00000377072.3_Missense_Mutation_p.C552S|MLLT10_ENST00000446906.2_Missense_Mutation_p.C552S|MLLT10_ENST00000377059.3_Missense_Mutation_p.C552S			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	552	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGATGGAGcttgcccaacaac	0.428			T	"MLL, PICALM, CDK6"	AL																																		Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	0													118	114	115					10																	21970293		2203	4300	6503	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1654T>A	chr10.hg19:g.21970293T>A	ENSP00000307411:p.Cys552Ser		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	hg19	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.266891	0.23136	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.14766	2.5;2.48;2.48;2.48	4.67	4.67	0.58626	.	0.392955	0.33309	N	0.005051	T	0.08670	0.0215	L	0.38175	1.15	0.48135	D	0.999596	B;B;B;B	0.33694	0.008;0.001;0.421;0.0	B;B;B;B	0.21360	0.004;0.0;0.034;0.001	T	0.22034	-1.0228	10	0.13470	T	0.59	.	10.6549	0.45669	0.0:0.0:0.0:1.0	.	247;552;552;552	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	S	552;552;552;398;552;195;194	ENSP00000366272:C552S;ENSP00000401406:C552S;ENSP00000307411:C552S;ENSP00000366258:C552S	ENSP00000307411:C552S	C	+	1	0	MLLT10	22010299	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.116000	0.41930	2.095000	0.63458	0.477000	0.44152	TGC		0.428	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			A	21970293	T	A	21970293	3	1	305	1	0	0	0	0	1	0	0	0	9628	1812	63	5	1696	5	MLLT10	10	21970293	Missense_Mutation	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10		21970293	113564454	36	18163											
ENKUR	219670	hgsc.bcm.edu	37	10	25288439	25288439	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr10:25288439G>T	ENST00000331161.4	-	2	333	c.114C>A	c.(112-114)gaC>gaA	p.D38E	ENKUR_ENST00000376363.1_Missense_Mutation_p.D38E	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	38						motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTTTTTGCATGTCATCTTTTA	0.299																																																0													107	95	99					10																	25288439		2201	4297	6498	SO:0001583	missense	219670			AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"chromosome 10 open reading frame 63"	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.114C>A	chr10.hg19:g.25288439G>T	ENSP00000331044:p.Asp38Glu		A8K8Y0|D3DRV2	Missense_Mutation	SNP	ENST00000331161.4	hg19	CCDS7146.1	.	.	.	.	.	.	.	.	.	.	G	2.150	-0.394650	0.04899	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	5.98	0.497	0.16902	.	0.090535	0.85682	D	0.000000	T	0.07413	0.0187	N	0.02539	-0.55	0.09310	N	0.999997	B	0.06786	0.001	B	0.01281	0.0	T	0.32079	-0.9920	9	0.02654	T	1	-22.9569	2.4844	0.04595	0.1405:0.2598:0.3993:0.2004	.	38	Q8TC29	ENKUR_HUMAN	E	38	.	ENSP00000331044:D38E	D	-	3	2	ENKUR	25328445	0.018000	0.18449	0.721000	0.30653	0.930000	0.56654	-0.003000	0.12901	0.428000	0.26173	0.591000	0.81541	GAC		0.299	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	NM_145010		T	25288439	G	T	25288439	3	4	305	1	0	0	0	0	1	0	0	0	5122	1368	48	4	676	4	ENKUR	10	25288439	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	3318146	25288439	110246308	37	18164											
HK1	3098	hgsc.bcm.edu	37	10	71136714	71136714	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr10:71136714G>T	ENST00000359426.6	+	8	1004	c.900G>T	c.(898-900)atG>atT	p.M300I	HK1_ENST00000448642.2_Missense_Mutation_p.M335I|HK1_ENST00000360289.2_Missense_Mutation_p.M288I|HK1_ENST00000404387.2_Missense_Mutation_p.M304I|HK1_ENST00000298649.3_Missense_Mutation_p.M299I|HK1_ENST00000494253.1_3'UTR	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	300	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TCAGTGGCATGTACTTGGGAG	0.567																																																0													163	143	150					10																	71136714		2203	4300	6503	SO:0001583	missense	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.900G>T	chr10.hg19:g.71136714G>T	ENSP00000352398:p.Met300Ile		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	hg19	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413479	0.62511	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	4.94	4.94	0.65067	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	M	0.86573	2.825	0.80722	D	1	B;B;B;B;B;P	0.39717	0.191;0.191;0.004;0.013;0.05;0.684	B;B;B;B;B;B	0.37267	0.243;0.16;0.012;0.089;0.078;0.245	T	0.30880	-0.9963	10	0.72032	D	0.01	-26.1047	18.1516	0.89676	0.0:0.0:1.0:0.0	.	300;300;299;335;304;288	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	I	288;335;304;299;300;300	ENSP00000353433:M288I;ENSP00000402103:M335I;ENSP00000384774:M304I;ENSP00000298649:M299I;ENSP00000352398:M300I	ENSP00000298649:M299I	M	+	3	0	HK1	70806720	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	7.941000	0.87700	2.293000	0.77203	0.585000	0.79938	ATG		0.567	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		T	71136714	G	T	71136714	3	4	305	1	0	0	0	0	1	0	0	0	7192	1377	48	4	1108	4	HK1	10	71136714	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	45848275	71136714	64398033	38	18165											
GBF1	8729	hgsc.bcm.edu	37	10	104103846	104103846	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr10:104103846T>G	ENST00000369983.3	+	4	462	c.202T>G	c.(202-204)Ttt>Gtt	p.F68V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	68					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTTCGACCTTTTCTGGAAGT	0.428																																																0													163	145	151					10																	104103846		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.202T>G	chr10.hg19:g.104103846T>G	ENSP00000359000:p.Phe68Val		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	hg19	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.967181	0.92855	.	.	ENSG00000107862	ENST00000369983	T	0.68025	-0.3	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85741	0.5767	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.998;0.999;0.994;0.999	D	0.88884	0.3341	10	0.87932	D	0	-13.687	16.3736	0.83374	0.0:0.0:0.0:1.0	.	68;68;68;68	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	V	68	ENSP00000359000:F68V	ENSP00000359000:F68V	F	+	1	0	GBF1	104093836	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.922000	0.87538	2.273000	0.75805	0.482000	0.46254	TTT		0.428	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			G	104103846	T	G	104103846	3	3	305	1	0	0	0	0	1	0	0	0	6273	1841	64	5	212	5	GBF1	10	104103846	Missense_Mutation	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10	32967132	104103846	31430901	39	18166											
MUC2	4583	hgsc.bcm.edu	37	11	1093271	1093271	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr11:1093271C>G	ENST00000441003.2	+	30	5117	c.5090C>G	c.(5089-5091)aCa>aGa	p.T1697R	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.T1664R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1697R(2)|p.T1664R(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cagaccccaacatcgacaccc	0.637																																																4	Substitution - Missense(4)	kidney(2)|skin(2)											126	165	151					11																	1093271		1844	3338	5182	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5090C>G	chr11.hg19:g.1093271C>G	ENSP00000415183:p.Thr1697Arg		Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	C	5.778	0.327961	0.10956	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.93;2.58	1.43	1.43	0.22495	.	27.718000	0.04275	U	0.342784	T	0.27027	0.0662	.	.	.	0.20307	N	0.999915	D	0.64830	0.994	D	0.67725	0.953	T	0.19647	-1.0299	9	0.30078	T	0.28	.	6.2291	0.20724	0.0:1.0:0.0:0.0	.	1697	E7EUV1	.	R	1697;1664	ENSP00000415183:T1697R;ENSP00000351956:T1664R	ENSP00000351956:T1664R	T	+	2	0	MUC2	1083271	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.752000	0.26362	0.796000	0.33947	0.184000	0.17185	ACA		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1093271	C	G	1093271	3	3	305	1	0	0	0	0	1	0	0	0	9977	478	17	4	5208	4	MUC2	11	1093271	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10		1093271	133913245	40	18167											
OR52M1	119772	hgsc.bcm.edu	37	11	4567069	4567069	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr11:4567069A>T	ENST00000360213.1	+	1	649	c.649A>T	c.(649-651)Att>Ttt	p.I217F		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCAGTGGCTATTGCTGCATC	0.532																																																0													267	251	257					11																	4567069		2201	4298	6499	SO:0001583	missense	119772			AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.649A>T	chr11.hg19:g.4567069A>T	ENSP00000353343:p.Ile217Phe			Missense_Mutation	SNP	ENST00000360213.1	hg19	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838966	0.51057	.	.	ENSG00000197790	ENST00000360213	T	0.00333	8.07	5.01	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000207	T	0.01092	0.0036	H	0.96916	3.905	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35450	-0.9788	10	0.87932	D	0	.	5.4232	0.16411	0.7442:0.0:0.0856:0.1702	.	217	Q8NGK5	O52M1_HUMAN	F	217	ENSP00000353343:I217F	ENSP00000353343:I217F	I	+	1	0	OR52M1	4523645	1.000000	0.71417	0.265000	0.24526	0.813000	0.45954	4.973000	0.63763	0.995000	0.38917	0.528000	0.53228	ATT		0.532	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		T	4567069	A	T	4567069	3	4	305	1	0	0	0	0	1	0	0	0	11128	449	16	5	651	5	OR52M1	11	4567069	Missense_Mutation	SNP	A	TCGA-B9-A69E-01A-11D-A31X-10	3473798	4567069	130439447	41	18168											
RIC3	79608	hgsc.bcm.edu	37	11	8132577	8132577	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr11:8132577C>T	ENST00000309737.6	-	6	777	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	RIC3_ENST00000335425.7_Missense_Mutation_p.E78K|RIC3_ENST00000343202.4_Missense_Mutation_p.E259K|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.E211K|RIC3_ENST00000396677.2_Missense_Mutation_p.E98K|RIC3_ENST00000425599.2_Missense_Mutation_p.E179K			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	260					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TCAGCTATTTCTTCAGCAGAA	0.428																																																0													112	111	112					11																	8132577		2201	4296	6497	SO:0001583	missense	79608				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.778G>A	chr11.hg19:g.8132577C>T	ENSP00000308820:p.Glu260Lys		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	hg19	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626069	0.87560	.	.	ENSG00000166405	ENST00000396677;ENST00000335425;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450	T;T;T;T;T	0.37752	1.24;1.24;1.26;1.18;1.2	6.06	6.06	0.98353	.	0.154914	0.45606	D	0.000353	T	0.57651	0.2068	M	0.72118	2.19	0.51233	D	0.999912	D;D;D;D;D;D	0.67145	0.996;0.971;0.99;0.99;0.99;0.99	P;P;P;P;P;P	0.62560	0.904;0.651;0.817;0.857;0.857;0.766	T	0.58250	-0.7669	10	0.72032	D	0.01	.	16.0307	0.80574	0.0:0.8665:0.1335:0.0	.	288;179;78;260;259;98	B7Z1U4;B0B1U0;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;.;.;RIC3_HUMAN;.;.	K	98;78;259;260;288;211;179;288	ENSP00000344904:E259K;ENSP00000308820:E260K;ENSP00000443871:E211K;ENSP00000395320:E179K;ENSP00000431658:E288K	ENSP00000308820:E260K	E	-	1	0	RIC3	8089153	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.792000	0.62467	2.882000	0.98803	0.655000	0.94253	GAA		0.428	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		T	8132577	C	T	8132577	3	4	305	1	0	0	0	0	1	0	0	0	13360	922	32	2	335	2	RIC3	11	8132577	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	3565508	8132577	126873939	42	18169											
LRP4	4038	hgsc.bcm.edu	37	11	46895104	46895104	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr11:46895104C>G	ENST00000378623.1	-	29	4512	c.4270G>C	c.(4270-4272)Ggg>Cgg	p.G1424R	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1424					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGCCCTCGCCCGATCACTGTC	0.572																																																0													80	72	75					11																	46895104		2201	4299	6500	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4270G>C	chr11.hg19:g.46895104C>G	ENSP00000367888:p.Gly1424Arg		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	hg19	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347774	0.82022	.	.	ENSG00000134569	ENST00000378623	D	0.95690	-3.78	5.91	5.91	0.95273	Six-bladed beta-propeller, TolB-like (1);	0.048798	0.85682	D	0.000000	D	0.91975	0.7458	N	0.12527	0.23	0.80722	D	1	P	0.35107	0.484	B	0.41088	0.347	D	0.89603	0.3836	10	0.22706	T	0.39	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1424	O75096	LRP4_HUMAN	R	1424	ENSP00000367888:G1424R	ENSP00000367888:G1424R	G	-	1	0	LRP4	46851680	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.943000	0.70211	2.793000	0.96121	0.655000	0.94253	GGG		0.572	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		G	46895104	C	G	46895104	3	3	305	1	0	0	0	0	1	0	0	0	8961	652	23	4	1487	4	LRP4	11	46895104	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	38762527	46895104	88111412	43	18170											
BRMS1	25855	hgsc.bcm.edu	37	11	66108763	66108763	+	Missense_Mutation	SNP	T	T	A	rs199933125	byFrequency	TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr11:66108763T>A	ENST00000359957.3	-	4	432	c.272A>T	c.(271-273)gAg>gTg	p.E91V	RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Missense_Mutation_p.E91V	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	91					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CCCCACTTCCTCCAGCCGCAA	0.602																																					GBM(7;55 307 2662 20856 28942)											0													32	36	35					11																	66108763		2200	4295	6495	SO:0001583	missense	25855			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.272A>T	chr11.hg19:g.66108763T>A	ENSP00000353042:p.Glu91Val		Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	hg19	CCDS8135.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.718118	0.68844	.	.	ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756	.	.	.	4.17	4.17	0.49024	.	0.121890	0.53938	D	0.000052	T	0.54431	0.1858	L	0.45228	1.405	0.44175	D	0.99698	B;B	0.31790	0.256;0.34	B;B	0.41135	0.348;0.343	T	0.55075	-0.8197	9	0.38643	T	0.18	-29.1846	11.4756	0.50295	0.0:0.0:0.0:1.0	.	91;91	Q9HCU9;G5E9I4	BRMS1_HUMAN;.	V	91	.	ENSP00000353042:E91V	E	-	2	0	BRMS1	65865339	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	1.690000	0.37711	1.889000	0.54706	0.460000	0.39030	GAG		0.602	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399		A	66108763	T	A	66108763	3	1	305	1	0	0	0	0	1	0	0	0	1518	1551	54	5	640	5	BRMS1	11	66108763	Missense_Mutation	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10	19213659	66108763	68897753	44	18171											
TAOK3	51347	hgsc.bcm.edu	37	12	118651868	118651868	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr12:118651868A>T	ENST00000392533.3	-	10	1181	c.691T>A	c.(691-693)Tat>Aat	p.Y231N	TAOK3_ENST00000419821.2_Missense_Mutation_p.Y231N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAATGTGATATAAGGCACTC	0.413																																																0													153	148	150					12																	118651868		2203	4300	6503	SO:0001583	missense	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.691T>A	chr12.hg19:g.118651868A>T	ENSP00000376317:p.Tyr231Asn		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	hg19	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731562	0.89390	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000538601	D;D;D	0.85484	-1.99;-1.99;-1.99	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.072210	0.64402	D	0.000020	D	0.89245	0.6660	L	0.45228	1.405	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.90431	0.4424	10	0.87932	D	0	.	15.3625	0.74492	1.0:0.0:0.0:0.0	.	231	Q9H2K8	TAOK3_HUMAN	N	231;231;129	ENSP00000416374:Y231N;ENSP00000376317:Y231N;ENSP00000437389:Y129N	ENSP00000376317:Y231N	Y	-	1	0	TAOK3	117136251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.210000	0.71456	0.472000	0.43445	TAT		0.413	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		T	118651868	A	T	118651868	3	4	305	1	0	0	0	0	1	0	0	0	15554	449	16	5	2053	5	TAOK3	12	118651868	Missense_Mutation	SNP	A	TCGA-B9-A69E-01A-11D-A31X-10		118651868	15200027	45	18172											
G2E3	55632	hgsc.bcm.edu	37	14	31081505	31081505	+	Silent	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr14:31081505G>A	ENST00000206595.6	+	13	1747	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	G2E3_ENST00000438909.2_Silent_p.T485T|G2E3_ENST00000553504.1_Silent_p.T561T	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	531	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GACTTATAACGACATTAAGTG	0.313																																																0													100	103	102					14																	31081505		2203	4295	6498	SO:0001819	synonymous_variant	55632			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1593G>A	chr14.hg19:g.31081505G>A			Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Silent	SNP	ENST00000206595.6	hg19	CCDS9638.1																																																																																				0.313	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		A	31081505	G	A	31081505	2	1	305	1	0	0	0	0	0	0	0	1	6142	1045	37	1		1	G2E3	14	31081505	Silent	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10		31081505	76268035	46	18173											
FANCM	57697	hgsc.bcm.edu	37	14	45645152	45645152	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr14:45645152C>G	ENST00000267430.5	+	14	3280	c.3195C>G	c.(3193-3195)tgC>tgG	p.C1065W	FANCM_ENST00000542564.2_Missense_Mutation_p.C1039W	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1065					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAAAAGTTGCCTTTATGATA	0.299								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													25	26	25					14																	45645152		2203	4296	6499	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3195C>G	chr14.hg19:g.45645152C>G	ENSP00000267430:p.Cys1065Trp		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	hg19	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	6.697	0.497283	0.12762	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18657	2.79;2.79;2.2	5.23	-2.33	0.06724	.	1.440870	0.03493	N	0.216880	T	0.30885	0.0779	L	0.56769	1.78	0.09310	N	0.999999	D;D	0.58620	0.964;0.983	P;P	0.53006	0.624;0.715	T	0.38067	-0.9678	10	0.66056	D	0.02	.	5.9826	0.19415	0.0:0.3342:0.137:0.5287	.	1039;1065	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	W	1065;1039;581	ENSP00000267430:C1065W;ENSP00000442493:C1039W;ENSP00000452033:C581W	ENSP00000267430:C1065W	C	+	3	2	FANCM	44714902	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.431000	0.06965	-0.270000	0.09285	-0.229000	0.12294	TGC		0.299	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		G	45645152	C	G	45645152	3	3	305	1	0	0	0	0	1	0	0	0	5673	747	26	4	3249	4	FANCM	14	45645152	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	14563647	45645152	61704388	47	18174											
DLGAP5	9787	hgsc.bcm.edu	37	14	55642723	55642723	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr14:55642723C>A	ENST00000247191.2	-	9	1279	c.1063G>T	c.(1063-1065)Gca>Tca	p.A355S	DLGAP5_ENST00000395425.2_Missense_Mutation_p.A355S	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	355					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTTTTGTTGCTTGAGACTCA	0.313																																																0													131	125	127					14																	55642723		2203	4297	6500	SO:0001583	missense	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1063G>T	chr14.hg19:g.55642723C>A	ENSP00000247191:p.Ala355Ser		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	hg19	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720936	0.30503	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.15952	2.38;2.38	3.83	2.93	0.34026	.	1.470090	0.03875	N	0.276195	T	0.16342	0.0393	L	0.36672	1.1	0.24747	N	0.993003	B;B	0.26902	0.163;0.095	B;B	0.30105	0.111;0.078	T	0.32798	-0.9893	10	0.13108	T	0.6	.	9.5155	0.39102	0.0:0.7848:0.2152:0.0	.	355;355	A8MTM6;Q15398	.;DLGP5_HUMAN	S	355	ENSP00000378815:A355S;ENSP00000247191:A355S	ENSP00000247191:A355S	A	-	1	0	DLGAP5	54712476	0.784000	0.28713	0.566000	0.28421	0.957000	0.61999	1.018000	0.30002	1.213000	0.43380	0.650000	0.86243	GCA		0.313	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		A	55642723	C	A	55642723	3	1	305	1	0	0	0	0	1	0	0	0	4565	797	28	4	1616	4	DLGAP5	14	55642723	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	9997571	55642723	51706817	48	18175											
AP4E1	23431	hgsc.bcm.edu	37	15	51285700	51285700	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr15:51285700G>T	ENST00000261842.5	+	17	2330	c.2224G>T	c.(2224-2226)Gat>Tat	p.D742Y	AP4E1_ENST00000560508.1_Missense_Mutation_p.D667Y	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	742					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GGAGAATGTAGATCAAGCTAT	0.408																																																0													105	92	97					15																	51285700		2196	4294	6490	SO:0001583	missense	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2224G>T	chr15.hg19:g.51285700G>T	ENSP00000261842:p.Asp742Tyr		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	hg19	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969624	0.53614	.	.	ENSG00000081014	ENST00000261842	T	0.19250	2.16	5.29	5.29	0.74685	.	0.278842	0.38778	N	0.001568	T	0.22898	0.0553	N	0.24115	0.695	0.35318	D	0.784497	P	0.51653	0.947	P	0.47744	0.556	T	0.19844	-1.0293	10	0.72032	D	0.01	-17.9497	17.9229	0.88973	0.0:0.0:1.0:0.0	.	742	Q9UPM8	AP4E1_HUMAN	Y	742	ENSP00000261842:D742Y	ENSP00000261842:D742Y	D	+	1	0	AP4E1	49072992	0.989000	0.36119	0.774000	0.31636	0.968000	0.65278	3.111000	0.50360	2.455000	0.83008	0.563000	0.77884	GAT		0.408	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			T	51285700	G	T	51285700	3	4	305	1	0	0	0	0	1	0	0	0	752	942	33	4	2290	4	AP4E1	15	51285700	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10		51285700	51245692	49	18176											
CHD2	1106	hgsc.bcm.edu	37	15	93541851	93541851	+	Splice_Site	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr15:93541851G>T	ENST00000394196.4	+	31	5076	c.4008G>T	c.(4006-4008)gaG>gaT	p.E1336D	CHD2_ENST00000557381.1_Splice_Site_p.E1336D	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1336					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GTGGGGAAGAGGTGAGTACGC	0.552																																																0													92	92	92					15																	93541851		2197	4298	6495	SO:0001630	splice_region_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4008+1G>T	chr15.hg19:g.93541851G>T			C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	hg19	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702923	0.48412	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.89939	-2.59;-2.58	5.16	5.16	0.70880	.	0.000000	0.34484	U	0.003936	D	0.92410	0.7591	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.984;0.996	D;P	0.68192	0.956;0.789	D	0.89962	0.4087	10	0.22109	T	0.4	-32.7161	17.2006	0.86904	0.0:0.0:1.0:0.0	.	1336;1336	O14647;O14647-2	CHD2_HUMAN;.	D	1336	ENSP00000377747:E1336D;ENSP00000451366:E1336D	ENSP00000377747:E1336D	E	+	3	2	CHD2	91342855	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	8.987000	0.93497	2.578000	0.87016	0.561000	0.74099	GAG		0.552	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	Missense_Mutation	T	93541851	G	T	93541851	5	4	305	1	0	0	0	0	0	0	1	0	3327	1014	35	4	4130	4	CHD2	15	93541851	Splice_Site	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	42256151	93541851	8989541	50	18177											
CCDC64B	146439	hgsc.bcm.edu	37	16	3078701	3078701	+	Splice_Site	SNP	T	T	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr16:3078701T>A	ENST00000572449.1	-	8	1300	c.1238A>T	c.(1237-1239)aAg>aTg	p.K413M	CCDC64B_ENST00000389347.4_Splice_Site_p.K413M|CCDC64B_ENST00000573514.1_Splice_Site_p.K206M			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	413										breast(1)|endometrium(2)|large_intestine(1)	4						TGAGGCTTACTTGTTCACGGC	0.637																																																0													35	49	44					16																	3078701		1994	4127	6121	SO:0001630	splice_region_variant	146439			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1238+1A>T	chr16.hg19:g.3078701T>A			Q658L9	Missense_Mutation	SNP	ENST00000572449.1	hg19	CCDS45393.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656736	0.67586	.	.	ENSG00000162069	ENST00000389347	T	0.39592	1.07	4.28	4.28	0.50868	.	0.067259	0.56097	D	0.000027	T	0.57989	0.2091	M	0.72118	2.19	0.58432	D	0.999993	D	0.76494	0.999	D	0.63192	0.912	T	0.59936	-0.7360	9	.	.	.	-53.638	11.4408	0.50096	0.0:0.0:0.0:1.0	.	413	A1A5D9	BICR2_HUMAN	M	413	ENSP00000373998:K413M	.	K	-	2	0	CCDC64B	3018702	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	2.792000	0.47837	1.814000	0.52955	0.459000	0.35465	AAG		0.637	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1		Missense_Mutation	A	3078701	T	A	3078701	5	1	305	1	0	0	0	0	0	0	1	0	2838	1623	56	5	300	5	CCDC64B	16	3078701	Splice_Site	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10		3078701	87276052	51	18178											
GTF3C1	2975	hgsc.bcm.edu	37	16	27549611	27549611	+	Silent	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr16:27549611C>T	ENST00000356183.4	-	3	513	c.498G>A	c.(496-498)gaG>gaA	p.E166E	GTF3C1_ENST00000561623.1_Silent_p.E166E	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	166					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGGGATCCCCCTCCTGGCCTA	0.582																																																0													70	66	68					16																	27549611		2197	4300	6497	SO:0001819	synonymous_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.498G>A	chr16.hg19:g.27549611C>T			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	8.560	0.877594	0.17395	.	.	ENSG00000077235	ENST00000388971	.	.	.	5.5	1.98	0.26296	.	.	.	.	.	T	0.61640	0.2363	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58036	-0.7707	5	0.38643	T	0.18	-3.8349	11.4639	0.50227	0.0:0.6864:0.0:0.3136	.	.	.	.	R	166	.	ENSP00000373623:G166R	G	-	1	0	GTF3C1	27457112	0.875000	0.30112	0.996000	0.52242	0.914000	0.54420	-0.027000	0.12371	0.389000	0.25086	-1.945000	0.00491	GGG		0.582	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		T	27549611	C	T	27549611	2	4	305	1	0	0	0	0	0	0	0	1	6874	680	24	2		2	GTF3C1	16	27549611	Silent	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	24470910	27549611	62805142	52	18179											
CDH1	999	hgsc.bcm.edu	37	16	68853183	68853183	+	Splice_Site	SNP	A	A	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr16:68853183A>C	ENST00000261769.5	+	11	1757	c.1566A>C	c.(1564-1566)acA>acC	p.T522T	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Splice_Site_p.T461T	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	522	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCCCGTTCAGATATCGGATTT	0.493			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	1	Unknown(1)	breast(1)											89	78	82					16																	68853183		2198	4300	6498	SO:0001630	splice_region_variant	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1566-1A>C	chr16.hg19:g.68853183A>C			A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	hg19	CCDS10869.1																																																																																				0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	Silent	C	68853183	A	C	68853183	5	2	305	1	0	0	0	0	0	0	1	0	3097	347	12	5	1608	5	CDH1	16	68853183	Splice_Site	SNP	A	TCGA-B9-A69E-01A-11D-A31X-10	41303572	68853183	21501570	53	18180											
CPNE7	27132	hgsc.bcm.edu	37	16	89650107	89650107	+	Silent	SNP	T	T	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr16:89650107T>A	ENST00000268720.5	+	5	715	c.585T>A	c.(583-585)atT>atA	p.I195I	CPNE7_ENST00000319518.8_Silent_p.I120I	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	195					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		ACTTACAGATTGTGGCCCAGA	0.672																																																0													48	45	46					16																	89650107		2198	4300	6498	SO:0001819	synonymous_variant	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.585T>A	chr16.hg19:g.89650107T>A				Silent	SNP	ENST00000268720.5	hg19	CCDS10980.1																																																																																				0.672	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			A	89650107	T	A	89650107	2	1	305	1	0	0	0	0	0	0	0	1	3819	1800	63	5		5	CPNE7	16	89650107	Silent	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10	20796924	89650107	704646	54	18181											
C17orf81	23587	hgsc.bcm.edu	37	17	7157996	7157996	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr17:7157996T>C	ENST00000396628.2	+	4	548	c.331T>C	c.(331-333)Tgc>Cgc	p.C111R	CTDNEP1_ENST00000572043.1_5'Flank|ELP5_ENST00000356683.2_Missense_Mutation_p.C111R|ELP5_ENST00000574255.1_Missense_Mutation_p.C111R|ELP5_ENST00000574993.1_Missense_Mutation_p.C111R|ELP5_ENST00000396627.2_Missense_Mutation_p.C111R|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000573657.1_Missense_Mutation_p.C111R|CTDNEP1_ENST00000318988.6_5'Flank|CTDNEP1_ENST00000573600.1_5'Flank|ELP5_ENST00000354429.2_Missense_Mutation_p.C111R	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	111					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											GAGAGCCATGTGCAAGAGGAC	0.562																																																0													126	93	104					17																	7157996		2203	4300	6503	SO:0001583	missense	23587			BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"Elongator acetyltransferase complex subunits"	30617	protein-coding gene	gene with protein product	"dermal papilla derived protein 6", "S-phase 2 protein"	615019	"chromosome 17 open reading frame 81"	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.331T>C	chr17.hg19:g.7157996T>C	ENSP00000379869:p.Cys111Arg		A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	hg19	CCDS11094.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.009540	0.35415	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.47869	1.54;1.54;1.54;0.83	5.51	0.78	0.18556	.	0.815021	0.11405	N	0.567376	T	0.41858	0.1177	L	0.56769	1.78	0.19575	N	0.999968	B;B;B;B	0.26002	0.029;0.114;0.139;0.021	B;B;B;B	0.31290	0.025;0.053;0.127;0.025	T	0.43925	-0.9361	10	0.56958	D	0.05	-0.1605	4.5046	0.11881	0.0:0.2406:0.3505:0.4089	.	111;111;111;111	Q8TE02-2;Q8TE02-3;A8K1M5;Q8TE02	.;.;.;DERP6_HUMAN	R	111	ENSP00000346412:C111R;ENSP00000379869:C111R;ENSP00000379868:C111R;ENSP00000349111:C111R	ENSP00000346412:C111R	C	+	1	0	C17orf81	7098720	0.003000	0.15002	0.001000	0.08648	0.794000	0.44872	0.167000	0.16602	0.127000	0.18452	0.482000	0.46254	TGC		0.562	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		C	7157996	T	C	7157996	3	2	305	1	0	0	0	0	1	0	0	0	1888	1696	59	3	345	3	C17orf81	17	7157996	Missense_Mutation	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10		7157996	74037214	55	18182											
ATPAF2	91647	hgsc.bcm.edu	37	17	17925092	17925092	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr17:17925092G>A	ENST00000474627.3	-	6	737	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	ATPAF2_ENST00000469327.1_5'UTR|ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	195					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GATGCCAGGTGGCTGACGAGC	0.547																																																0													234	205	215					17																	17925092		2203	4300	6503	SO:0001583	missense	91647			AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"Mitochondrial respiratory chain complex assembly factors"	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.583C>T	chr17.hg19:g.17925092G>A	ENSP00000417190:p.His195Tyr		A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	ENST00000474627.3	hg19	CCDS32585.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247071	0.59103	.	.	ENSG00000171953	ENST00000474627;ENST00000444058	T;T	0.75821	-0.97;-0.97	5.41	5.41	0.78517	ATPase assembly, ATP12, domain (1);	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70182	-0.4942	10	0.02654	T	1	4.9557	19.5423	0.95278	0.0:0.0:1.0:0.0	.	195	Q8N5M1	ATPF2_HUMAN	Y	195	ENSP00000417190:H195Y;ENSP00000397198:H195Y	ENSP00000434980:H195Y	H	-	1	0	ATPAF2	17865817	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.369000	0.79578	2.692000	0.91855	0.655000	0.94253	CAC		0.547	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		A	17925092	G	A	17925092	3	1	305	1	0	0	0	0	1	0	0	0	1201	1348	47	2	298	2	ATPAF2	17	17925092	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	10767096	17925092	63270118	56	18183											
C17orf57	124989	hgsc.bcm.edu	37	17	45468874	45468875	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr17:45468874_45468875insG	ENST00000331493.2	+	15	2065_2066	c.1654_1655insG	c.(1654-1656)tgtfs	p.C552fs	EFCAB13_ENST00000517484.1_Frame_Shift_Ins_p.C456fs	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	552	EF-hand 2.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TCTAAATACTTGTCTTCAAAAT	0.327																																																0																																										SO:0001589	frameshift_variant	124989			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1655dupG	chr17.hg19:g.45468875_45468875dupG	ENSP00000332111:p.Cys552fs		G3V128|Q49AG9	Frame_Shift_Ins	INS	ENST00000331493.2	hg19	CCDS11512.1																																																																																				0.327	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		G	45468875	-	G	45468874	7	5	305	1	0	1	1	0	0	0	0	0	1867	1812	63	0	1700	0	C17orf57	17	45468874	Frame_Shift_Ins	INS	-	TCGA-B9-A69E-01A-11D-A31X-10	27543782	45468874	35726336	57	18184											
NDC80	10403	hgsc.bcm.edu	37	18	2610806	2610806	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr18:2610806delA	ENST00000261597.4	+	16	1919	c.1737delA	c.(1735-1737)ggafs	p.G579fs		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	579	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAAAAGTGGGAAATAACTTGC	0.368																																																0													194	172	180					18																	2610806		2203	4300	6503	SO:0001589	frameshift_variant	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1737delA	chr18.hg19:g.2610806delA	ENSP00000261597:p.Gly579fs		Q6PJX2	Frame_Shift_Del	DEL	ENST00000261597.4	hg19	CCDS11827.1																																																																																				0.368	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		-	2610806	A	-	2610806	7	5	305	1	0	1	0	1	0	0	0	0	10244	233	9	0	1795	0	NDC80	18	2610806	Frame_Shift_Del	DEL	A	TCGA-B9-A69E-01A-11D-A31X-10		2610806	75466442	58	18185											
DYM	54808	hgsc.bcm.edu	37	18	46798650	46798650	+	Silent	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr18:46798650C>G	ENST00000269445.6	-	11	1606	c.1149G>C	c.(1147-1149)ctG>ctC	p.L383L	DYM_ENST00000442713.2_Silent_p.L193L	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	383					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CAACATGATACAGAATCTCAA	0.299																																																0													77	72	74					18																	46798650		2203	4299	6502	SO:0001819	synonymous_variant	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1149G>C	chr18.hg19:g.46798650C>G			A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	hg19	CCDS11937.1																																																																																				0.299	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		G	46798650	C	G	46798650	2	3	305	1	0	0	0	0	0	0	0	1	4842	465	17	4		4	DYM	18	46798650	Silent	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	44187844	46798650	31278598	59	18186											
HMHA1	23526	hgsc.bcm.edu	37	19	1082889	1082889	+	Silent	SNP	G	G	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:1082889G>T	ENST00000313093.2	+	20	2799	c.2568G>T	c.(2566-2568)ctG>ctT	p.L856L	HMHA1_ENST00000536472.1_Silent_p.L724L|HMHA1_ENST00000539243.2_Silent_p.L872L|HMHA1_ENST00000586866.1_Silent_p.L860L|HMHA1_ENST00000590577.1_Silent_p.L491L|HMHA1_ENST00000590214.1_Silent_p.L883L|HMHA1_ENST00000543365.1_Silent_p.L739L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	856	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGTAGGGCTGGCCAAGGACA	0.711																																																0													13	12	12					19																	1082889		2193	4288	6481	SO:0001819	synonymous_variant	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2568G>T	chr19.hg19:g.1082889G>T			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	hg19	CCDS32863.1																																																																																				0.711	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			T	1082889	G	T	1082889	2	4	305	1	0	0	0	0	0	0	0	1	7242	1335	47	4		4	HMHA1	19	1082889	Silent	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10		1082889	58046094	60	18187											
MRI1	28974	hgsc.bcm.edu	37	19	13883025	13883025	+	5'Flank	SNP	A	A	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:13883025A>T	ENST00000588234.1	+	0	0				CTB-5E10.3_ENST00000586297.1_RNA|CTB-5E10.3_ENST00000591826.1_RNA|C19orf53_ENST00000593274.1_5'Flank|MRI1_ENST00000040663.6_Missense_Mutation_p.E347V|CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000319545.8_Missense_Mutation_p.E300V	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53											breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			TTTGCCCCTGAGGAGCTCCGG	0.577																																																0													95	88	91					19																	13883025		2203	4300	6503	SO:0001631	upstream_gene_variant	84245			AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"leydig cell tumor 10 kDa protein homolog"					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5			chr19.hg19:g.13883025A>T	Exception_encountered		B2R4J9	Missense_Mutation	SNP	ENST00000588234.1	hg19	CCDS12298.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.611851	0.28712	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	T;T	0.31247	1.5;1.5	4.88	3.84	0.44239	.	0.235842	0.36409	N	0.002620	T	0.27900	0.0687	L	0.48986	1.54	0.32290	N	0.566403	B;B	0.29085	0.232;0.011	B;B	0.30251	0.113;0.027	T	0.29518	-1.0009	10	0.42905	T	0.14	-48.5554	10.0893	0.42436	0.8314:0.1686:0.0:0.0	.	300;347	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	V	347;300	ENSP00000040663:E347V;ENSP00000314871:E300V	ENSP00000040663:E347V	E	+	2	0	MRI1	13744025	0.000000	0.05858	0.400000	0.26346	0.621000	0.37620	0.854000	0.27791	0.685000	0.31468	0.397000	0.26171	GAG		0.577	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		T	13883025	A	T	13883025	1	4	305	0	1	0	0	0	0	0	0	0	9772	304	11	5		5	MRI1	19	13883025	5'Flank	SNP	A	TCGA-B9-A69E-01A-11D-A31X-10	12800136	13883025	45245958	61	18188											
USHBP1	83878	hgsc.bcm.edu	37	19	17366410	17366410	+	Silent	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:17366410G>A	ENST00000252597.3	-	10	1649	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Silent_p.A428A	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGTCCGCCAGGGCCTCCTGTG	0.632																																																0													10	12	11					19																	17366410		2188	4264	6452	SO:0001819	synonymous_variant	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1476C>T	chr19.hg19:g.17366410G>A				Silent	SNP	ENST00000252597.3	hg19	CCDS12353.1																																																																																				0.632	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		A	17366410	G	A	17366410	2	1	305	1	0	0	0	0	0	0	0	1	17042	1219	43	2		2	USHBP1	19	17366410	Silent	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	3483385	17366410	41762573	62	18189											
C19orf40	91442	hgsc.bcm.edu	37	19	33464971	33464972	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:33464971_33464972insA	ENST00000588258.1	+	4	359_360	c.249_250insA	c.(250-252)aatfs	p.N84fs	CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000591863.1_5'Flank|CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590281.1_Frame_Shift_Ins_p.N84fs|C19orf40_ENST00000590179.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	84					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TCAAGTCCAATAATCTTAAAGG	0.406								Direct reversal of damage																																								0																																										SO:0001589	frameshift_variant	91442			AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 24kDa"	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.251dupA	chr19.hg19:g.33464973_33464973dupA	ENSP00000466121:p.Asn84fs		B3KY46|Q8WUJ7|Q96FX6	Frame_Shift_Ins	INS	ENST00000588258.1	hg19	CCDS12426.1																																																																																				0.406	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		A	33464972	-	A	33464971	7	5	305	1	0	1	1	0	0	0	0	0	1925	1403	49	0	259	0	C19orf40	19	33464971	Frame_Shift_Ins	INS	-	TCGA-B9-A69E-01A-11D-A31X-10	16098561	33464971	25664012	63	18190											
DMKN	93099	hgsc.bcm.edu	37	19	36002420	36002420	+	Missense_Mutation	SNP	C	C	T	rs72334573	byFrequency	TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:36002420C>T	ENST00000339686.3	-	5	987	c.811G>A	c.(811-813)Ggc>Agc	p.G271S	DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.G271S|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.G271S|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.G271S|DMKN_ENST00000440396.1_Missense_Mutation_p.G271S|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.G271S|DMKN_ENST00000480502.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	271	Gly-rich.			Missing (in Ref. 3; ABN11273/ABN11274). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ctgctgctgccaccactgctg	0.657																																																0													30	23	25					19																	36002420		2169	4246	6415	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.811G>A	chr19.hg19:g.36002420C>T	ENSP00000342012:p.Gly271Ser		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	hg19	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	0.987	-0.695138	0.03303	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	3.44	-2.87	0.05700	.	1.607200	0.03581	N	0.230096	T	0.18759	0.0450	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B	0.31931	0.347;0.347;0.347;0.347;0.347	B;B;B;B;B	0.25140	0.058;0.058;0.058;0.058;0.058	T	0.16689	-1.0394	10	0.02654	T	1	.	7.7195	0.28723	0.0:0.3991:0.0:0.6009	.	271;271;271;271;271	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	S	271	ENSP00000342012:G271S;ENSP00000394908:G271S;ENSP00000415277:G271S;ENSP00000414743:G271S;ENSP00000388404:G271S;ENSP00000409513:G271S	ENSP00000342012:G271S	G	-	1	0	DMKN	40694260	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.439000	0.21575	-0.412000	0.07519	-0.418000	0.06021	GGC		0.657	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36002420	C	T	36002420	3	4	305	1	0	0	0	0	1	0	0	0	4584	594	21	2	984	2	DMKN	19	36002420	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	2537449	36002420	23126563	64	18191											
CBLC	23624	hgsc.bcm.edu	37	19	45281521	45281521	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:45281521C>G	ENST00000270279.3	+	1	396	c.333C>G	c.(331-333)ttC>ttG	p.F111L	CBLC_ENST00000341505.4_Missense_Mutation_p.F111L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	111	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ACGAGCTCTTCCGGGCGGGCT	0.657			M		AML																																		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													4	5	5					19																	45281521		1948	3848	5796	SO:0001583	missense	23624			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.333C>G	chr19.hg19:g.45281521C>G	ENSP00000270279:p.Phe111Leu		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	hg19	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	14.98	2.697608	0.48307	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	T;T	0.78924	-1.22;-1.22	3.49	3.49	0.39957	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.64402	D	0.000016	T	0.78978	0.4369	M	0.81497	2.545	0.39134	D	0.961902	P;D	0.52996	0.939;0.957	P;P	0.45310	0.476;0.469	D	0.83554	0.0103	10	0.66056	D	0.02	-25.9304	10.6934	0.45884	0.0:1.0:0.0:0.0	.	111;111	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	L	111	ENSP00000270279:F111L;ENSP00000340250:F111L	ENSP00000270279:F111L	F	+	3	2	CBLC	49973361	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	2.404000	0.44539	1.962000	0.57031	0.556000	0.70494	TTC		0.657	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		G	45281521	C	G	45281521	3	3	305	1	0	0	0	0	1	0	0	0	2704	854	30	4	335	4	CBLC	19	45281521	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10	9279101	45281521	13847462	65	18192											
ZNF577	84765	hgsc.bcm.edu	37	19	52376955	52376955	+	Silent	SNP	A	A	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:52376955A>G	ENST00000301399.5	-	7	653	c.288T>C	c.(286-288)ttT>ttC	p.F96F	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000451628.2_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTGGATTACAAAACCTAAAT	0.358																																																0													37	34	35					19																	52376955		2203	4299	6502	SO:0001819	synonymous_variant	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.288T>C	chr19.hg19:g.52376955A>G			A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	hg19	CCDS12842.2																																																																																				0.358	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		G	52376955	A	G	52376955	2	3	305	1	0	0	0	0	0	0	0	1	18014	127	5	3		3	ZNF577	19	52376955	Silent	SNP	A	TCGA-B9-A69E-01A-11D-A31X-10	7095434	52376955	6752028	66	18193											
ZNF606	80095	hgsc.bcm.edu	37	19	58489700	58489700	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr19:58489700T>C	ENST00000341164.4	-	7	2968	c.2348A>G	c.(2347-2349)cAg>cGg	p.Q783R	ZNF606_ENST00000536132.1_Missense_Mutation_p.Q693R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	783					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GTGATTTCTCTGGTGTTGAAG	0.368																																																0													91	84	86					19																	58489700		2203	4300	6503	SO:0001583	missense	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2348A>G	chr19.hg19:g.58489700T>C	ENSP00000343617:p.Gln783Arg		A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	hg19	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	T	9.820	1.185460	0.21870	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.25749	1.78;1.78	4.77	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40302	N	0.001121	T	0.18882	0.0453	L	0.39147	1.195	0.23988	N	0.996254	B	0.11235	0.004	B	0.10450	0.005	T	0.16217	-1.0410	10	0.49607	T	0.09	.	7.2862	0.26340	0.0:0.0828:0.145:0.7722	.	783	Q8WXB4	ZN606_HUMAN	R	783;693	ENSP00000343617:Q783R;ENSP00000445624:Q693R	ENSP00000343617:Q783R	Q	-	2	0	ZNF606	63181512	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.272000	0.18644	0.941000	0.37499	0.528000	0.53228	CAG		0.368	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		C	58489700	T	C	58489700	3	2	305	1	0	0	0	0	1	0	0	0	18037	1580	55	3	34	3	ZNF606	19	58489700	Missense_Mutation	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10	6112745	58489700	639283	67	18194											
BPIL3	128859	hgsc.bcm.edu	37	20	31627181	31627181	+	Missense_Mutation	SNP	C	C	A	rs370022331		TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr20:31627181C>A	ENST00000349552.1	+	10	929	c.929C>A	c.(928-930)cCc>cAc	p.P310H		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	310						extracellular region (GO:0005576)	lipid binding (GO:0008289)										AAGTCAAAGCCCTTGACGACC	0.522																																																0													102	107	105					20																	31627181		2203	4300	6503	SO:0001583	missense	128859			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.929C>A	chr20.hg19:g.31627181C>A	ENSP00000344929:p.Pro310His			Missense_Mutation	SNP	ENST00000349552.1	hg19	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703220	0.30232	.	.	ENSG00000167104	ENST00000349552	T	0.08896	3.04	4.44	3.47	0.39725	.	0.000000	0.56097	D	0.000035	T	0.25606	0.0623	M	0.81497	2.545	0.29520	N	0.853577	D	0.71674	0.998	D	0.66716	0.946	T	0.05354	-1.0890	10	0.46703	T	0.11	.	10.1046	0.42526	0.0:0.7964:0.2036:0.0	.	310	Q8NFQ5	BPIB6_HUMAN	H	310	ENSP00000344929:P310H	ENSP00000344929:P310H	P	+	2	0	BPIFB6	31090842	1.000000	0.71417	0.986000	0.45419	0.039000	0.13416	1.937000	0.40193	1.047000	0.40274	0.561000	0.74099	CCC		0.522	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		A	31627181	C	A	31627181	3	1	305	1	0	0	0	0	1	0	0	0	1495	623	22	4	967	4	BPIL3	20	31627181	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10		31627181	31398339	68	18195											
TTPAL	79183	hgsc.bcm.edu	37	20	43108944	43108944	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr20:43108944A>G	ENST00000372904.3	+	3	448	c.305A>G	c.(304-306)tAc>tGc	p.Y102C	TTPAL_ENST00000372906.2_Missense_Mutation_p.Y102C|TTPAL_ENST00000262605.4_Missense_Mutation_p.Y102C	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	102						intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CTCGTCAACTACCACAGCTGT	0.567																																																0													51	44	46					20																	43108944		2203	4300	6503	SO:0001583	missense	79183			BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 121"	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.305A>G	chr20.hg19:g.43108944A>G	ENSP00000361995:p.Tyr102Cys		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Missense_Mutation	SNP	ENST00000372904.3	hg19	CCDS13332.2	.	.	.	.	.	.	.	.	.	.	A	22.6	4.306489	0.81247	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000372906;ENST00000456317	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.1	5.1	0.69264	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93787	0.7089	10	0.87932	D	0	-22.794	14.903	0.70696	1.0:0.0:0.0:0.0	.	102	Q9BTX7	TTPAL_HUMAN	C	102	ENSP00000262605:Y102C;ENSP00000361995:Y102C;ENSP00000361997:Y102C;ENSP00000412720:Y102C	ENSP00000262605:Y102C	Y	+	2	0	TTPAL	42542358	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.317000	0.96327	1.909000	0.55274	0.533000	0.62120	TAC		0.567	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		G	43108944	A	G	43108944	3	3	305	1	0	0	0	0	1	0	0	0	16742	391	14	3	307	3	TTPAL	20	43108944	Missense_Mutation	SNP	A	TCGA-B9-A69E-01A-11D-A31X-10	11481763	43108944	19916576	69	18196											
ADA	100	hgsc.bcm.edu	37	20	43251682	43251682	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr20:43251682G>A	ENST00000372874.4	-	7	778	c.644C>T	c.(643-645)gCc>gTc	p.A215V	ADA_ENST00000537820.1_Intron|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372887.1_Intron|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	215			A -> T (in ADASCID; dbSNP:rs114025668). {ECO:0000269|PubMed:2166947}.		adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CACCTCCCCGGCGTGGACAGT	0.657									Adenosine Deaminase Deficiency																																							0													67	68	68					20																	43251682		2203	4300	6503	SO:0001583	missense	100	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.644C>T	chr20.hg19:g.43251682G>A	ENSP00000361965:p.Ala215Val		Q53F92|Q6LA59	Missense_Mutation	SNP	ENST00000372874.4	hg19	CCDS13335.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377508	0.61735	.	.	ENSG00000196839	ENST00000372874	D	0.97114	-4.25	4.89	3.9	0.45041	Adenosine/AMP deaminase (1);	0.048514	0.85682	D	0.000000	D	0.98466	0.9489	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.63113	0.911	D	0.98951	1.0794	10	0.87932	D	0	-9.5965	15.4157	0.74966	0.0:0.1385:0.8615:0.0	.	215	P00813	ADA_HUMAN	V	215	ENSP00000361965:A215V	ENSP00000361965:A215V	A	-	2	0	ADA	42685096	1.000000	0.71417	0.136000	0.22124	0.136000	0.21042	6.472000	0.73567	2.549000	0.85964	0.563000	0.77884	GCC		0.657	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		A	43251682	G	A	43251682	3	1	305	1	0	0	0	0	1	0	0	0	230	1203	42	2	471	2	ADA	20	43251682	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	142738	43251682	19773838	70	18197											
PRIC285	85441	hgsc.bcm.edu	37	20	62201870	62201870	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr20:62201870G>A	ENST00000467148.1	-	3	626	c.557C>T	c.(556-558)gCc>gTc	p.A186V	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	186					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGAGTGGACGGCAAACGTCCA	0.627																																																0													82	71	75					20																	62201870		2202	4300	6502	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.557C>T	chr20.hg19:g.62201870G>A	ENSP00000417401:p.Ala186Val		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	hg19	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596213	0.28445	.	.	ENSG00000130589	ENST00000467148	T	0.02421	4.3	4.28	-7.27	0.01461	.	2.233770	0.02265	N	0.067890	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B;B	0.18310	0.027;0.0	B;B	0.15052	0.012;0.0	T	0.43956	-0.9359	10	0.56958	D	0.05	-1.1836	0.4194	0.00453	0.206:0.2023:0.2358:0.3559	.	186;186	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	V	186	ENSP00000417401:A186V	ENSP00000417401:A186V	A	-	2	0	RP4-697K14.7	61672314	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-2.542000	0.00935	-1.101000	0.03027	0.558000	0.71614	GCC		0.627	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62201870	G	A	62201870	3	1	305	1	0	0	0	0	1	0	0	0	12490	1203	42	2	7483	2	PRIC285	20	62201870	Missense_Mutation	SNP	G	TCGA-B9-A69E-01A-11D-A31X-10	18950188	62201870	823650	71	18198											
KCNE2	9992	hgsc.bcm.edu	37	21	35743124	35743124	+	Missense_Mutation	SNP	C	C	T	rs199473367		TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr21:35743124C>T	ENST00000290310.3	+	2	487	c.347C>T	c.(346-348)gCg>gTg	p.A116V	AP000320.6_ENST00000440403.1_RNA	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	116					aging (GO:0007568)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular protein localization (GO:0034613)|cellular response to drug (GO:0035690)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|positive regulation of proteasomal protein catabolic process (GO:1901800)|potassium ion export (GO:0071435)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of cyclic nucleotide-gated ion channel activity (GO:1902159)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of inward rectifier potassium channel activity (GO:1901979)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|tongue development (GO:0043586)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|large_intestine(1)	2						AACATTGGTGCGGCTGGGTTC	0.488																																																0			GRCh37	CM003450	KCNE2	M							44	40	42					21																	35743124		2203	4300	6503	SO:0001583	missense	9992			AF071002	CCDS13635.1	21q22.1	2014-09-17			ENSG00000159197	ENSG00000159197		"Potassium channels"	6242	protein-coding gene	gene with protein product		603796				10219239	Standard	NM_172201		Approved	MiRP1, LQT6	uc002ytt.1	Q9Y6J6	OTTHUMG00000086189	ENST00000290310.3:c.347C>T	chr21.hg19:g.35743124C>T	ENSP00000290310:p.Ala116Val		A5H1P3|D3DSF8|Q52LJ5	Missense_Mutation	SNP	ENST00000290310.3	hg19	CCDS13635.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805758	0.70682	.	.	ENSG00000159197	ENST00000290310	D	0.93307	-3.2	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	D	0.94686	0.8286	L	0.32530	0.975	0.42882	D	0.994175	D	0.89917	1.0	D	0.78314	0.991	D	0.95265	0.8372	10	0.66056	D	0.02	-27.5208	17.5309	0.87814	0.0:1.0:0.0:0.0	.	116	Q9Y6J6	KCNE2_HUMAN	V	116	ENSP00000290310:A116V	ENSP00000290310:A116V	A	+	2	0	KCNE2	34664994	0.991000	0.36638	0.150000	0.22450	0.102000	0.19082	3.221000	0.51215	2.657000	0.90304	0.655000	0.94253	GCG		0.488	KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194068.2			T	35743124	C	T	35743124	3	4	305	1	0	0	0	0	1	0	0	0	8025	768	27	1	349	1	KCNE2	21	35743124	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10		35743124	12386771	72	18199											
KCNJ15	3772	hgsc.bcm.edu	37	21	39671646	39671649	+	Frame_Shift_Del	DEL	TTGA	TTGA	-			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	TTGA	TTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chr21:39671646_39671649delTTGA	ENST00000328656.4	+	4	766_769	c.463_466delTTGA	c.(463-468)ttgattfs	p.LI155fs	KCNJ15_ENST00000398938.2_Frame_Shift_Del_p.LI155fs|KCNJ15_ENST00000398932.1_Frame_Shift_Del_p.LI155fs|KCNJ15_ENST00000398934.1_Frame_Shift_Del_p.LI155fs|KCNJ15_ENST00000398930.1_Frame_Shift_Del_p.LI155fs	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	155					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CATCACGACCTTGATTGAGATCTT	0.515																																																0																																										SO:0001589	frameshift_variant	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.463_466delTTGA	chr21.hg19:g.39671650_39671653delTTGA	ENSP00000331698:p.Leu155fs		D3DSH5|O00564|Q96L28|Q99446	Frame_Shift_Del	DEL	ENST00000328656.4	hg19	CCDS13656.1																																																																																				0.515	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		-	39671649	TTGA	-	39671646	7	5	305	1	0	1	0	1	0	0	0	0	8051	1606	56	0	465	0	KCNJ15	21	39671646	Frame_Shift_Del	DEL	TTGA	TCGA-B9-A69E-01A-11D-A31X-10	3928522	39671646	8458249	73	18200											
USP9X	8239	hgsc.bcm.edu	37	X	41043810	41043810	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chrX:41043810C>T	ENST00000324545.8	+	23	4073	c.3440C>T	c.(3439-3441)gCc>gTc	p.A1147V	USP9X_ENST00000378308.2_Missense_Mutation_p.A1147V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1147					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CGAAGGGGTGCCTACCTCAAT	0.463																																					Ovarian(172;1807 2695 35459 49286)											0													107	99	101					X																	41043810		2177	4280	6457	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3440C>T	chrX.hg19:g.41043810C>T	ENSP00000316357:p.Ala1147Val		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	hg19	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984913	0.74474	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.11712	2.75;2.75	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	L	0.35723	1.085	0.80722	D	1	B;B	0.16802	0.019;0.019	B;B	0.17098	0.017;0.017	T	0.15321	-1.0441	10	0.09843	T	0.71	.	18.7017	0.91623	0.0:1.0:0.0:0.0	.	1147;1147	Q93008-1;Q93008	.;USP9X_HUMAN	V	1147	ENSP00000367558:A1147V;ENSP00000316357:A1147V	ENSP00000316357:A1147V	A	+	2	0	USP9X	40928754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.361000	0.80049	0.513000	0.50165	GCC		0.463	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		T	41043810	C	T	41043810	3	4	305	1	0	0	0	0	1	0	0	0	17095	739	26	2	3526	2	USP9X	23	41043810	Missense_Mutation	SNP	C	TCGA-B9-A69E-01A-11D-A31X-10		41043810	114226750	74	18201											
GPR174	84636	hgsc.bcm.edu	37	X	78426874	78426874	+	Frame_Shift_Del	DEL	T	T	-	rs137871290		TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chrX:78426874delT	ENST00000276077.1	+	1	406	c.370delT	c.(370-372)tttfs	p.F124fs		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CATGTACCCCTTTCGCTTCCA	0.458										HNSCC(63;0.18)																																						0													217	194	202					X																	78426874		2203	4300	6503	SO:0001589	frameshift_variant	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.370delT	chrX.hg19:g.78426874delT	ENSP00000276077:p.Phe124fs		Q2M3F7	Frame_Shift_Del	DEL	ENST00000276077.1	hg19	CCDS14443.1																																																																																				0.458	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		-	78426874	T	-	78426874	7	5	305	1	0	1	0	1	0	0	0	0	6674	1609	56	0	372	0	GPR174	23	78426874	Frame_Shift_Del	DEL	T	TCGA-B9-A69E-01A-11D-A31X-10	37383064	78426874	76843686	75	18202											
UPF3B	65109	hgsc.bcm.edu	37	X	118977251	118977251	+	Silent	SNP	T	T	C			TCGA-B9-A69E-01A-11D-A31X-10	TCGA-B9-A69E-10A-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	bc7baae9-8c95-40f5-b778-ca1598e9373d	f4799bdc-b207-4053-9a4b-5a26ebf8ab91	g.chrX:118977251T>C	ENST00000276201.2	-	5	552	c.483A>G	c.(481-483)agA>agG	p.R161R	UPF3B_ENST00000345865.2_Silent_p.R161R|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	161	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CCAAAAACTTTCTATATTCTG	0.279																																																0													161	144	150					X																	118977251		2202	4300	6502	SO:0001819	synonymous_variant	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.483A>G	chrX.hg19:g.118977251T>C			D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Silent	SNP	ENST00000276201.2	hg19	CCDS14588.1																																																																																				0.279	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			C	118977251	T	C	118977251	2	2	305	1	0	0	0	0	0	0	0	1	17011	1780	62	3		3	UPF3B	23	118977251	Silent	SNP	T	TCGA-B9-A69E-01A-11D-A31X-10	40550377	118977251	36293309	76	18203											
NPHP4	261734	hgsc.bcm.edu	37	1	5965397	5965397	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:5965397C>G	ENST00000378156.4	-	15	2175	c.1910G>C	c.(1909-1911)tGt>tCt	p.C637S	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	637					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTGTAGACAATCTGATTC	0.458																																																0													162	162	162					1																	5965397		1983	4163	6146	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1910G>C	chr1.hg19:g.5965397C>G	ENSP00000367398:p.Cys637Ser		Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	hg19	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	1.924	-0.447616	0.04572	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86097	-2.07	5.52	3.44	0.39384	.	0.958176	0.08697	N	0.907022	T	0.74329	0.3702	L	0.35414	1.06	0.09310	N	0.999991	B	0.14012	0.009	B	0.12837	0.008	T	0.58255	-0.7668	10	0.20046	T	0.44	.	3.0279	0.06097	0.2008:0.4175:0.2899:0.0917	.	637	O75161	NPHP4_HUMAN	S	637;40	ENSP00000367398:C637S	ENSP00000367398:C637S	C	-	2	0	NPHP4	5887984	0.225000	0.23685	0.034000	0.17996	0.361000	0.29550	0.868000	0.27982	1.283000	0.44513	0.561000	0.74099	TGT		0.458	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			G	5965397	C	G	5965397	3	3	306	1	0	0	0	0	1	0	0	0	10583	478	17	4	2434	4	NPHP4	1	5965397	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10		5965397	243285224	1	18204											
UBR4	23352	hgsc.bcm.edu	37	1	19526229	19526229	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:19526229C>G	ENST00000375254.3	-	3	321	c.294G>C	c.(292-294)caG>caC	p.Q98H	UBR4_ENST00000375226.2_Missense_Mutation_p.Q98H|UBR4_ENST00000375217.2_Missense_Mutation_p.Q98H|UBR4_ENST00000375267.2_Missense_Mutation_p.Q98H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	98					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGCCACTGACTGAAGTTGGT	0.448																																																0													66	70	69					1																	19526229		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.294G>C	chr1.hg19:g.19526229C>G	ENSP00000364403:p.Gln98His		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716487	0.30413	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.45	3.58	0.41010	.	0.070642	0.56097	D	0.000023	T	0.12220	0.0297	N	0.08118	0	0.80722	D	1	P	0.44090	0.826	B	0.38562	0.276	T	0.07712	-1.0758	10	0.48119	T	0.1	.	8.9721	0.35912	0.0:0.7689:0.0:0.2311	.	98	Q5T4S7	UBR4_HUMAN	H	98	ENSP00000364403:Q98H;ENSP00000364416:Q98H;ENSP00000364365:Q98H;ENSP00000364374:Q98H	ENSP00000364365:Q98H	Q	-	3	2	UBR4	19398816	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.114000	0.31196	0.780000	0.33566	-0.157000	0.13467	CAG		0.448	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19526229	C	G	19526229	3	3	306	1	0	0	0	0	1	0	0	0	16909	564	20	4	15673	4	UBR4	1	19526229	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	13560832	19526229	229724392	2	18205											
GPBP1L1	60313	hgsc.bcm.edu	37	1	46120388	46120388	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:46120388C>T	ENST00000290795.3	-	5	1525	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.G102S			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	102					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CCATCATGACCTCGGGAAGAG	0.547																																																0													89	79	83					1																	46120388		2203	4300	6503	SO:0001583	missense	60313				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.304G>A	chr1.hg19:g.46120388C>T	ENSP00000290795:p.Gly102Ser		D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	hg19	CCDS528.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363208	0.95877	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.50277	0.75;0.75	5.95	5.05	0.67936	.	0.048934	0.85682	N	0.000000	T	0.67126	0.2860	M	0.66939	2.045	0.43207	D	0.995062	D	0.89917	1.0	D	0.91635	0.999	T	0.71279	-0.4640	10	0.87932	D	0	-17.3444	15.1228	0.72457	0.0:0.9326:0.0:0.0674	.	102	Q9HC44	GPBL1_HUMAN	S	102	ENSP00000290795:G102S;ENSP00000347224:G102S	ENSP00000290795:G102S	G	-	1	0	GPBP1L1	45892975	1.000000	0.71417	0.955000	0.39395	0.888000	0.51559	5.504000	0.66968	1.534000	0.49203	0.655000	0.94253	GGT		0.547	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		T	46120388	C	T	46120388	3	4	306	1	0	0	0	0	1	0	0	0	6598	681	24	2	1152	2	GPBP1L1	1	46120388	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	26594159	46120388	203130233	3	18206											
PTGER3	5733	hgsc.bcm.edu	37	1	71513083	71513084	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:71513083_71513084GC>TA	ENST00000306666.5	-	1	387_388	c.177_178GC>TA	c.(175-180)ctGCtc>ctTAtc	p.L60I	ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000370931.3_Missense_Mutation_p.L60I|PTGER3_ENST00000370932.2_Missense_Mutation_p.L60I|PTGER3_ENST00000460330.1_Missense_Mutation_p.L60I|PTGER3_ENST00000356595.4_Missense_Mutation_p.L60I|PTGER3_ENST00000370924.4_Missense_Mutation_p.L60I|PTGER3_ENST00000351052.5_Missense_Mutation_p.L60I|PTGER3_ENST00000354608.5_Missense_Mutation_p.L60I|PTGER3_ENST00000414819.1_Missense_Mutation_p.L60I	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	60					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AAACCAGTGAGCAGCATGGTGA	0.678																																																0																																										SO:0001583	missense	5733			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.177_178delinsTA	chr1.hg19:g.71513083_71513084delinsTA	ENSP00000302313:p.Leu60Ile		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation|Silent	SNP	ENST00000306666.5	hg19	CCDS657.1																																																																																				0.678	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		TA	71513084	GC	TA	71513083	3	4	306	1	0	0	0	0	1	0	0	0	12750	971	34	4	1313	4	PTGER3	1	71513083	Missense_Mutation	DNP	GC	TCGA-B9-A8YH-01A-11D-A36X-10	25392695	71513083	177737538	4	18207											
ADORA3	140	hgsc.bcm.edu	37	1	112029234	112029234	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:112029234T>A	ENST00000369716.4	-	4	979	c.846A>T	c.(844-846)aaA>aaT	p.K282N	ADORA3_ENST00000369717.4_Missense_Mutation_p.K201N	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TGCGGACAACTTTGGGAGCCT	0.562																																																0													102	92	96					1																	112029234		2203	4300	6503	SO:0001583	missense	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.846A>T	chr1.hg19:g.112029234T>A	ENSP00000358730:p.Lys282Asn		A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000369716.4	hg19	CCDS838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.82|11.82	1.752256|1.752256	0.31046|0.31046	.|.	.|.	ENSG00000121933|ENSG00000121933	ENST00000414219;ENST00000442484|ENST00000369717;ENST00000369716;ENST00000355437;ENST00000443498	T|T;T	0.20200|0.54279	2.09|2.4;0.58	4.5|4.5	-0.965|-0.965	0.10323|0.10323	.|.	0.649942|0.649942	0.14219|0.14219	N|N	0.333533|0.333533	T|T	0.18551|0.18551	0.0445|0.0445	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.30281	.|0.275;0.275	.|B;B	.|0.36418	.|0.224;0.104	T|T	0.25916|0.25916	-1.0118|-1.0118	8|10	0.45353|0.72032	T|D	0.12|0.01	-3.4141|-3.4141	3.1776|3.1776	0.06573|0.06573	0.1969:0.3231:0.0:0.48|0.1969:0.3231:0.0:0.48	.|.	.|201;282	.|Q5QNY7;P33765-2	.|.;.	M|N	142;95|201;282;113;107	ENSP00000415646:K142M|ENSP00000358731:K201N;ENSP00000358730:K282N	ENSP00000415646:K142M|ENSP00000347612:K113N	K|K	-|-	2|3	0|2	ADORA3|ADORA3	111830757|111830757	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.208000|0.208000	0.17415|0.17415	-0.015000|-0.015000	0.14150|0.14150	-0.441000|-0.441000	0.05720|0.05720	AAG|AAA		0.562	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683		A	112029234	T	A	112029234	3	1	306	1	0	0	0	0	1	0	0	0	329	1606	56	5	209	5	ADORA3	1	112029234	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	40516151	112029234	137221387	5	18208											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144882724	144882724	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:144882724G>T	ENST00000369354.3	-	24	3484	c.3295C>A	c.(3295-3297)Cag>Aag	p.Q1099K	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q1236K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q1236K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1099K|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1099					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AACTCAGCCTGAAGGCTACTC	0.483			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													273	257	262					1																	144882724		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3295C>A	chr1.hg19:g.144882724G>T	ENSP00000358360:p.Gln1099Lys		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	8.520	0.868649	0.17322	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01464	4.86;4.86;4.87;4.87	5.84	4.75	0.60458	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.80722	D	1	B	0.34015	0.435	B	0.24974	0.057	T	0.58418	-0.7640	9	0.14252	T	0.57	.	10.7121	0.45990	0.0993:0.0:0.9007:0.0	.	1099	Q5VU43	MYOME_HUMAN	K	1099;1099;1236;1236	ENSP00000358360:Q1099K;ENSP00000358363:Q1099K;ENSP00000435654:Q1236K;ENSP00000358366:Q1236K	ENSP00000358360:Q1099K	Q	-	1	0	PDE4DIP	143594081	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.424000	0.34848	2.778000	0.95560	0.655000	0.94253	CAG		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144882724	G	T	144882724	3	4	306	1	0	0	0	0	1	0	0	0	11645	1299	45	4	3829	4	PDE4DIP	1	144882724	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	32853490	144882724	104367897	6	18209											
THEM4	117145	hgsc.bcm.edu	37	1	151867562	151867562	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:151867562C>G	ENST00000368814.3	-	2	557	c.208G>C	c.(208-210)Gac>Cac	p.D70H	THEM4_ENST00000489410.1_Missense_Mutation_p.D70H	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	70					epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGAGCCGTCTTCACATTTC	0.433																																																0													102	99	100					1																	151867562		2203	4298	6501	SO:0001583	missense	117145			AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"C-terminal modulator protein"	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.208G>C	chr1.hg19:g.151867562C>G	ENSP00000357804:p.Asp70His		B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	hg19	CCDS1006.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392158	0.62066	.	.	ENSG00000159445	ENST00000368814;ENST00000489410	T;T	0.27256	1.78;1.68	4.16	4.16	0.48862	.	0.414693	0.26079	N	0.026465	T	0.28200	0.0696	M	0.74258	2.255	0.42205	D	0.991782	D	0.57571	0.98	P	0.50231	0.635	T	0.04752	-1.0929	10	0.54805	T	0.06	-16.359	12.2685	0.54691	0.0:1.0:0.0:0.0	.	70	Q5T1C6	THEM4_HUMAN	H	70	ENSP00000357804:D70H;ENSP00000433304:D70H	ENSP00000357804:D70H	D	-	1	0	THEM4	150134186	0.995000	0.38212	0.997000	0.53966	0.718000	0.41266	1.809000	0.38922	2.606000	0.88127	0.650000	0.86243	GAC		0.433	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055		G	151867562	C	G	151867562	3	3	306	1	0	0	0	0	1	0	0	0	15863	913	32	4	534	4	THEM4	1	151867562	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	6984838	151867562	97383059	7	18210											
ADAM15	8751	hgsc.bcm.edu	37	1	155034762	155034762	+	Silent	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:155034762G>A	ENST00000356955.2	+	22	2567	c.2466G>A	c.(2464-2466)ctG>ctA	p.L822L	EFNA3_ENST00000505139.1_5'Flank|ADAM15_ENST00000271836.6_Silent_p.L773L|ADAM15_ENST00000368410.2_Silent_p.L479L|ADAM15_ENST00000360674.4_Missense_Mutation_p.C750Y|ADAM15_ENST00000359280.4_Silent_p.L797L|ADAM15_ENST00000368413.1_Silent_p.L479L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Missense_Mutation_p.C774Y|ADAM15_ENST00000531455.1_Silent_p.L783L|ADAM15_ENST00000355956.2_Silent_p.L798L|ADAM15_ENST00000449910.2_Silent_p.L821L|EFNA3_ENST00000556931.1_5'Flank|EFNA4_ENST00000368409.3_5'Flank|EFNA4_ENST00000427683.2_5'Flank|EFNA4_ENST00000359751.4_5'Flank	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	822					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGAAGCCACTGCCTGCCGACC	0.711											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													6	7	7					1																	155034762		2111	4155	6266	SO:0001819	synonymous_variant	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2466G>A	chr1.hg19:g.155034762G>A		1767	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	hg19	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308991	0.23821	.	.	ENSG00000143537	ENST00000360674;ENST00000368412	T;T	0.00932	5.76;5.53	4.37	2.39	0.29439	.	.	.	.	.	T	0.01156	0.0038	.	.	.	0.80722	D	1	D;D	0.54964	0.969;0.969	P;P	0.53809	0.735;0.735	T	0.63932	-0.6525	8	0.62326	D	0.03	.	10.3708	0.44053	0.0:0.3895:0.6105:0.0	.	750;774	Q13444-10;Q13444-9	.;.	Y	750;774	ENSP00000353892:C750Y;ENSP00000357397:C774Y	ENSP00000353892:C750Y	C	+	2	0	ADAM15	153301386	1.000000	0.71417	0.988000	0.46212	0.480000	0.33159	1.364000	0.34171	0.419000	0.25927	0.655000	0.94253	TGC		0.711	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		A	155034762	G	A	155034762	2	1	306	1	0	0	0	0	0	0	0	1	237	1319	46	2		2	ADAM15	1	155034762	Silent	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	3167200	155034762	94215859	8	18211											
POU2F1	5451	hgsc.bcm.edu	37	1	167343431	167343431	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:167343431C>G	ENST00000541643.3	+	7	582	c.420C>G	c.(418-420)caC>caG	p.H140Q	POU2F1_ENST00000452019.1_Missense_Mutation_p.H140Q|POU2F1_ENST00000367866.2_Missense_Mutation_p.H163Q|POU2F1_ENST00000420254.3_Missense_Mutation_p.H140Q|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000367862.5_Missense_Mutation_p.H152Q|POU2F1_ENST00000367865.1_3'UTR			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	140					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TGCAGCAGCACTCCGCCAGCC	0.607																																																0													24	24	24					1																	167343431		2203	4300	6503	SO:0001583	missense	5451			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.420C>G	chr1.hg19:g.167343431C>G	ENSP00000441285:p.His140Gln		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	hg19		.	.	.	.	.	.	.	.	.	.	C	14.61	2.588083	0.46110	.	.	ENSG00000143190	ENST00000367866;ENST00000452019;ENST00000492850;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.81	-5.64	0.02466	.	4.687520	0.00397	N	0.000049	T	0.75443	0.3850	L	0.32530	0.975	0.44985	D	0.998002	D;D;D;D	0.69078	0.96;0.997;0.997;0.995	D;D;D;D	0.78314	0.944;0.986;0.991;0.969	T	0.67413	-0.5677	10	0.41790	T	0.15	.	16.7965	0.85603	0.0:0.5772:0.0:0.4228	.	140;152;138;140	P14859-4;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	Q	163;140;17;138;140;140;152;48	ENSP00000356840:H163Q;ENSP00000391523:H140Q;ENSP00000356839:H138Q;ENSP00000414660:H140Q;ENSP00000441285:H140Q;ENSP00000356836:H152Q;ENSP00000415993:H48Q	ENSP00000356836:H152Q	H	+	3	2	POU2F1	165610055	0.003000	0.15002	0.669000	0.29828	0.687000	0.40016	-1.326000	0.02685	-1.120000	0.02953	-0.793000	0.03317	CAC		0.607	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		G	167343431	C	G	167343431	3	3	306	1	0	0	0	0	1	0	0	0	12273	564	20	4	438	4	POU2F1	1	167343431	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	12308669	167343431	81907190	9	18212											
PRG4	10216	hgsc.bcm.edu	37	1	186277770	186277770	+	Silent	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:186277770T>C	ENST00000445192.2	+	7	2964	c.2919T>C	c.(2917-2919)atT>atC	p.I973I	PRG4_ENST00000367486.3_Silent_p.I930I|PRG4_ENST00000367485.4_Silent_p.I880I|PRG4_ENST00000367483.4_Silent_p.I932I|PRG4_ENST00000367484.3_Silent_p.I502I	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	973					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CATTCAAAATTACTACTCTTA	0.353																																																0													196	215	208					1																	186277770		2203	4300	6503	SO:0001819	synonymous_variant	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2919T>C	chr1.hg19:g.186277770T>C			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	hg19	CCDS1369.1																																																																																				0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		C	186277770	T	C	186277770	2	2	306	1	0	0	0	0	0	0	0	1	12486	1742	61	3		3	PRG4	1	186277770	Silent	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	18934339	186277770	62972851	10	18213											
F13B	2165	hgsc.bcm.edu	37	1	197026477	197026477	+	Silent	SNP	G	G	T	rs141627684		TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:197026477G>T	ENST00000367412.1	-	6	967	c.924C>A	c.(922-924)atC>atA	p.I308I		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	308	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTGACCCATGGATCTCAAAAT	0.373																																																0													203	188	193					1																	197026477		2203	4300	6503	SO:0001819	synonymous_variant	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.924C>A	chr1.hg19:g.197026477G>T			A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	hg19	CCDS1388.1																																																																																				0.373	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		T	197026477	G	T	197026477	2	4	306	1	0	0	0	0	0	0	0	1	5343	1164	41	4		4	F13B	1	197026477	Silent	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	10748707	197026477	52224144	11	18214											
PKP1	5317	hgsc.bcm.edu	37	1	201292313	201292313	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:201292313G>A	ENST00000352845.3	+	10	1739	c.1739G>A	c.(1738-1740)gGg>gAg	p.G580E	PKP1_ENST00000263946.3_Missense_Mutation_p.G580E|PKP1_ENST00000367324.3_Missense_Mutation_p.G559E			Q13835	PKP1_HUMAN	plakophilin 1	580					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCCAGCAAGGGGCTGGTGAGT	0.617																																																0													95	89	91					1																	201292313		2203	4300	6503	SO:0001583	missense	5317			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1739G>A	chr1.hg19:g.201292313G>A	ENSP00000295597:p.Gly580Glu		O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	hg19	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034838	0.75617	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.46063	0.88;0.88;0.88	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.250213	0.45867	D	0.000326	T	0.65048	0.2654	M	0.73217	2.22	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.99;0.975;0.974	T	0.61744	-0.7000	10	0.35671	T	0.21	-16.8875	19.3649	0.94458	0.0:0.0:1.0:0.0	.	167;559;580	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	E	559;580;580	ENSP00000356293:G559E;ENSP00000263946:G580E;ENSP00000295597:G580E	ENSP00000263946:G580E	G	+	2	0	PKP1	199558936	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	6.580000	0.74040	2.571000	0.86741	0.591000	0.81541	GGG		0.617	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		A	201292313	G	A	201292313	3	1	306	1	0	0	0	0	1	0	0	0	11986	1232	43	2	1777	2	PKP1	1	201292313	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	4265836	201292313	47958308	12	18215											
NEK2	4751	hgsc.bcm.edu	37	1	211836794	211836794	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:211836794delT	ENST00000366999.4	-	8	1450	c.1312delA	c.(1312-1314)agcfs	p.S438fs	NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000540251.1_Frame_Shift_Del_p.S395fs	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	438	Interaction with PCNT.|Interaction with SAV1 and STK3/MST2.|Necessary for interaction with MAD1L1.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ATCTGTCTGCTTTTCAGTTGG	0.463																																																0													43	40	41					1																	211836794		2203	4300	6503	SO:0001589	frameshift_variant	4751			U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"HsPK 21", "protein phosphatase 1, regulatory subunit 111"	604043	"NIMA (never in mitosis gene a)-related kinase 2"			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.1312delA	chr1.hg19:g.211836794delT	ENSP00000355966:p.Ser438fs		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Frame_Shift_Del	DEL	ENST00000366999.4	hg19	CCDS1500.1																																																																																				0.463	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		-	211836794	T	-	211836794	7	5	306	1	0	1	0	1	0	0	0	0	10326	1609	56	0	29	0	NEK2	1	211836794	Frame_Shift_Del	DEL	T	TCGA-B9-A8YH-01A-11D-A36X-10	10544481	211836794	37413827	13	18216											
SMYD3	64754	hgsc.bcm.edu	37	1	246670463	246670463	+	Silent	SNP	G	G	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr1:246670463G>T	ENST00000388985.4	-	1	56	c.57C>A	c.(55-57)cgC>cgA	p.R19R	SMYD3_ENST00000490107.1_5'UTR|SMYD3_ENST00000403792.3_Silent_p.R19R			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	19	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GGGTCACGGCGCGCAGCCCGT	0.682																																																0													31	42	39					1																	246670463		692	1591	2283	SO:0001819	synonymous_variant	64754			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	15513	protein-coding gene	gene with protein product		608783	"zinc finger, MYND domain containing 1"	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.57C>A	chr1.hg19:g.246670463G>T			A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Silent	SNP	ENST00000388985.4	hg19	CCDS53486.1																																																																																				0.682	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		T	246670463	G	T	246670463	2	4	306	1	0	0	0	0	0	0	0	1	14829	1074	38	4		4	SMYD3	1	246670463	Silent	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	34833669	246670463	2580158	14	18217											
ALMS1	7840	hgsc.bcm.edu	37	2	73613065	73613065	+	Silent	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr2:73613065G>A	ENST00000264448.6	+	1	180	c.69G>A	c.(67-69)gaG>gaA	p.E23E	ALMS1_ENST00000377715.1_Silent_p.E23E|ALMS1_ENST00000409009.1_Silent_p.E23E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	23	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						aggaggaggaggaggaagagg	0.687																																																0													6	9	8					2																	73613065		1849	3831	5680	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.69G>A	chr2.hg19:g.73613065G>A			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	hg19	CCDS42697.1																																																																																				0.687	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73613065	G	A	73613065	2	1	306	1	0	0	0	0	0	0	0	1	535	991	35	2		2	ALMS1	2	73613065	Silent	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10		73613065	169586308	15	18218											
LRP2	4036	hgsc.bcm.edu	37	2	170097724	170097724	+	Silent	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr2:170097724T>C	ENST00000263816.3	-	25	4104	c.3819A>G	c.(3817-3819)tcA>tcG	p.S1273S	LRP2_ENST00000443831.1_Silent_p.S1136S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1273	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GGAAATATGATGAAGGGCAAG	0.512																																																0													161	136	144					2																	170097724		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3819A>G	chr2.hg19:g.170097724T>C			O00711|Q16215	Silent	SNP	ENST00000263816.3	hg19	CCDS2232.1																																																																																				0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170097724	T	C	170097724	2	2	306	1	0	0	0	0	0	0	0	1	8958	1451	51	3		3	LRP2	2	170097724	Silent	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	96484659	170097724	73101649	16	18219											
TTN	7273	hgsc.bcm.edu	37	2	179424376	179424376	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr2:179424376T>C	ENST00000591111.1	-	276	81784	c.81560A>G	c.(81559-81561)cAg>cGg	p.Q27187R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q28828R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q26260R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q19955R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q19888R|TTN_ENST00000460472.2_Missense_Mutation_p.Q19763R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27187	Ig-like 129.				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)			CAAAACATTCTGAATTGTTAA	0.408																																																0													178	166	170					2																	179424376		1953	4152	6105	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81560A>G	chr2.hg19:g.179424376T>C	ENSP00000465570:p.Gln27187Arg		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	T	13.02	2.113492	0.37339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53899	0.1825	N	0.17764	0.52	0.38198	D	0.940119	P;P;P;P	0.43231	0.801;0.801;0.801;0.684	B;B;B;B	0.38378	0.265;0.265;0.265;0.272	T	0.65179	-0.6231	9	0.87932	D	0	.	16.383	0.83481	0.0:0.0:0.0:1.0	.	19763;19888;19955;27187	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	26260;19763;19955;19888;19760	ENSP00000343764:Q26260R;ENSP00000434586:Q19763R;ENSP00000340554:Q19955R;ENSP00000352154:Q19888R	ENSP00000340554:Q19955R	Q	-	2	0	TTN	179132622	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.081000	0.64444	2.326000	0.78906	0.533000	0.62120	CAG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179424376	T	C	179424376	3	2	306	1	0	0	0	0	1	0	0	0	16740	1580	55	3	21644	3	TTN	2	179424376	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	9326652	179424376	63774997	17	18220											
FASTKD2	22868	hgsc.bcm.edu	37	2	207655298	207655298	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr2:207655298T>C	ENST00000236980.6	+	11	2249	c.1901T>C	c.(1900-1902)gTa>gCa	p.V634A	FASTKD2_ENST00000402774.3_Missense_Mutation_p.V634A|FASTKD2_ENST00000403094.3_Missense_Mutation_p.V634A	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	634	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GTTTTCAGAGTAGCTGTGCTA	0.383																																																0													126	126	126					2																	207655298		2203	4300	6503	SO:0001583	missense	22868			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1901T>C	chr2.hg19:g.207655298T>C	ENSP00000236980:p.Val634Ala		Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	hg19	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892723	0.52121	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.21734	1.99;1.99;1.99	5.96	5.96	0.96718	RAP domain (1);	0.288889	0.34268	N	0.004111	T	0.24890	0.0604	M	0.68952	2.095	0.34651	D	0.721629	P	0.40431	0.717	B	0.35813	0.211	T	0.46373	-0.9196	10	0.87932	D	0	-20.0213	13.9717	0.64245	0.0:0.0:0.0:1.0	.	634	Q9NYY8	FAKD2_HUMAN	A	634	ENSP00000236980:V634A;ENSP00000385990:V634A;ENSP00000384929:V634A	ENSP00000236980:V634A	V	+	2	0	FASTKD2	207363543	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	2.909000	0.48758	2.285000	0.76669	0.533000	0.62120	GTA		0.383	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		C	207655298	T	C	207655298	3	2	306	1	0	0	0	0	1	0	0	0	5688	1638	57	3	1939	3	FASTKD2	2	207655298	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	28230922	207655298	35544075	18	18221											
AQP12B	653437	hgsc.bcm.edu	37	2	241621833	241621833	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr2:241621833T>A	ENST00000407834.3	-	1	484	c.422A>T	c.(421-423)cAc>cTc	p.H141L		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	129						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CTGCAGCAGGTGCAGGTCACT	0.697																																																0													13	13	13					2																	241621833		2174	4214	6388	SO:0001583	missense	653437			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.422A>T	chr2.hg19:g.241621833T>A	ENSP00000384894:p.His141Leu		A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	hg19	CCDS46560.1	.	.	.	.	.	.	.	.	.	.	.	18.49	3.636002	0.67130	.	.	ENSG00000185176	ENST00000407834	T	0.38887	1.11	2.8	1.59	0.23543	.	0.103713	0.64402	D	0.000003	T	0.53578	0.1805	M	0.80982	2.52	0.42521	D	0.993008	D	0.58268	0.982	P	0.56042	0.79	T	0.55431	-0.8142	10	0.87932	D	0	1.3049	6.5696	0.22531	0.0:0.1293:0.0:0.8707	.	141	A6NM10-2	.	L	141	ENSP00000384894:H141L	ENSP00000384894:H141L	H	-	2	0	AQP12B	241270506	1.000000	0.71417	0.119000	0.21687	0.931000	0.56810	3.976000	0.56867	0.469000	0.27268	0.376000	0.23039	CAC		0.697	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			A	241621833	T	A	241621833	3	1	306	1	0	0	0	0	1	0	0	0	825	1696	59	5	513	5	AQP12B	2	241621833	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	33966535	241621833	1577540	19	18222											
D2HGDH	728294	hgsc.bcm.edu	37	2	242683053	242683053	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr2:242683053G>T	ENST00000321264.4	+	5	716	c.507G>T	c.(505-507)caG>caT	p.Q169H	D2HGDH_ENST00000403782.1_Missense_Mutation_p.Q35H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.Q169H|D2HGDH_ENST00000342518.6_Missense_Mutation_p.Q169H	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	169	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGTTTGCCAGGCGGGCTGCG	0.637																																																0													35	35	35					2																	242683053		2203	4296	6499	SO:0001583	missense	728294			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.507G>T	chr2.hg19:g.242683053G>T	ENSP00000315351:p.Gln169His		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	hg19	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.75|12.75	2.032526|2.032526	0.35893|0.35893	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000417686|ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518	.|D;D;D;D	.|0.96913	.|-4.17;-4.17;-4.17;-4.17	4.73|4.73	4.73|4.73	0.59995|0.59995	.|FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98369|0.98369	0.9458|0.9458	H|H	0.96269|0.96269	3.795|3.795	0.80722|0.80722	D|D	1|1	.|D	.|0.60160	.|0.987	.|P	.|0.61275	.|0.886	D|D	0.99063|0.99063	1.0831|1.0831	5|10	.|0.87932	.|D	.|0	.|.	11.7108|11.7108	0.51625|0.51625	0.0942:0.0:0.9058:0.0|0.0942:0.0:0.9058:0.0	.|.	.|169	.|Q8N465	.|D2HDH_HUMAN	C|H	11|169;169;35;169	.|ENSP00000442796:Q169H;ENSP00000315351:Q169H;ENSP00000384723:Q35H;ENSP00000339536:Q169H	.|ENSP00000315351:Q169H	G|Q	+|+	1|3	0|2	D2HGDH|D2HGDH	242331726|242331726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.322000|0.322000	0.28314|0.28314	5.002000|5.002000	0.63952|0.63952	2.191000|2.191000	0.70037|0.70037	0.462000|0.462000	0.41574|0.41574	GGC|CAG		0.637	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		T	242683053	G	T	242683053	3	4	306	1	0	0	0	0	1	0	0	0	4215	991	35	4	521	4	D2HGDH	2	242683053	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	1061220	242683053	516320	20	18223											
SCN5A	6331	hgsc.bcm.edu	37	3	38592252	38592252	+	Silent	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr3:38592252G>A	ENST00000333535.4	-	28	5760	c.5611C>T	c.(5611-5613)Ctg>Ttg	p.L1871L	SCN5A_ENST00000425664.1_Silent_p.L1853L|SCN5A_ENST00000414099.2_Silent_p.L1853L|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000423572.2_Silent_p.L1870L|SCN5A_ENST00000455624.2_Silent_p.L1838L|SCN5A_ENST00000443581.1_Silent_p.L1870L|SCN5A_ENST00000451551.2_Silent_p.L1817L|SCN5A_ENST00000450102.2_Silent_p.L1817L|SCN5A_ENST00000449557.2_Silent_p.L1817L|SCN5A_ENST00000413689.1_Silent_p.L1871L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1871	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGATCTTCAGGGCGTCCATC	0.577																																																0													164	178	173					3																	38592252		2090	4210	6300	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5611C>T	chr3.hg19:g.38592252G>A			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	hg19	CCDS46796.1																																																																																				0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		A	38592252	G	A	38592252	2	1	306	1	0	0	0	0	0	0	0	1	13928	991	35	2		2	SCN5A	3	38592252	Silent	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10		38592252	159430178	21	18224											
CCDC66	285331	hgsc.bcm.edu	37	3	56649243	56649243	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr3:56649243A>G	ENST00000394672.3	+	12	1724	c.1654A>G	c.(1654-1656)Atc>Gtc	p.I552V	CCDC66_ENST00000326595.7_Missense_Mutation_p.I518V|CCDC66_ENST00000436465.2_Missense_Mutation_p.I552V	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	552					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGAACAAAGAATCCGAGAATT	0.383																																																0													112	112	112					3																	56649243		2203	4300	6503	SO:0001583	missense	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1654A>G	chr3.hg19:g.56649243A>G	ENSP00000378167:p.Ile552Val		B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	hg19	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241738	0.79912	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.97	5.97	0.96955	.	0.181866	0.48286	D	0.000190	T	0.63570	0.2522	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.61652	-0.7019	10	0.35671	T	0.21	-10.0888	16.4562	0.84015	1.0:0.0:0.0:0.0	.	552	A2RUB6	CCD66_HUMAN	V	508;552;518;552	ENSP00000401451:I508V;ENSP00000378167:I552V;ENSP00000326050:I518V;ENSP00000404320:I552V	ENSP00000326050:I518V	I	+	1	0	CCDC66	56624283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.384000	0.73177	2.289000	0.77006	0.459000	0.35465	ATC		0.383	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		G	56649243	A	G	56649243	3	3	306	1	0	0	0	0	1	0	0	0	2840	101	4	3	1700	3	CCDC66	3	56649243	Missense_Mutation	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	18056991	56649243	141373187	22	18225											
GOLGB1	2804	hgsc.bcm.edu	37	3	121410064	121410064	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr3:121410064T>A	ENST00000340645.5	-	14	8257	c.8132A>T	c.(8131-8133)gAt>gTt	p.D2711V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D2716V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2711					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCCACCAAATCTCTTGCTAG	0.388																																																0													247	257	254					3																	121410064		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8132A>T	chr3.hg19:g.121410064T>A	ENSP00000341848:p.Asp2711Val		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	hg19	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165936	0.38217	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.29142	1.58;1.59	5.46	5.46	0.80206	.	0.094413	0.45867	D	0.000327	T	0.54902	0.1887	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.981;0.999	T	0.56625	-0.7948	10	0.48119	T	0.1	.	13.4815	0.61338	0.0:0.0:0.0:1.0	.	2716;2716;2711	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	V	2711;2716	ENSP00000341848:D2711V;ENSP00000377275:D2716V	ENSP00000341848:D2711V	D	-	2	0	GOLGB1	122892754	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.548000	0.82154	2.062000	0.61559	0.533000	0.62120	GAT		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		A	121410064	T	A	121410064	3	1	306	1	0	0	0	0	1	0	0	0	6567	1435	50	5	1683	5	GOLGB1	3	121410064	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	64760821	121410064	76612366	23	18226											
CHST2	9435	hgsc.bcm.edu	37	3	142840256	142840256	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr3:142840256G>A	ENST00000309575.3	+	2	1982	c.598G>A	c.(598-600)Gta>Ata	p.V200I		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	200					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AGTGTGGCATGTATGGCAAAA	0.582																																																0													67	83	78					3																	142840256		2198	4297	6495	SO:0001583	missense	9435			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.598G>A	chr3.hg19:g.142840256G>A	ENSP00000307911:p.Val200Ile		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	hg19	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154982	0.38021	.	.	ENSG00000175040	ENST00000309575	D	0.96619	-4.07	4.45	4.45	0.53987	Sulfotransferase domain (1);	0.082297	0.48767	U	0.000162	D	0.91195	0.7226	N	0.10916	0.065	0.43084	D	0.994742	B	0.23591	0.088	B	0.27500	0.08	D	0.88039	0.2780	10	0.25106	T	0.35	-0.111	17.2545	0.87051	0.0:0.0:1.0:0.0	.	200	Q9Y4C5	CHST2_HUMAN	I	200	ENSP00000307911:V200I	ENSP00000307911:V200I	V	+	1	0	CHST2	144322946	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.671000	0.54576	2.295000	0.77249	0.407000	0.27541	GTA		0.582	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		A	142840256	G	A	142840256	3	1	306	1	0	0	0	0	1	0	0	0	3406	1377	48	2	600	2	CHST2	3	142840256	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	21430192	142840256	55182174	24	18227	143	2									
CHST2	9435	hgsc.bcm.edu	37	3	142840258	142840258	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr3:142840258delA	ENST00000309575.3	+	2	1984	c.600delA	c.(598-600)gtafs	p.V200fs		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	200					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TGTGGCATGTATGGCAAAAAC	0.577																																																0													67	83	78					3																	142840258		2198	4297	6495	SO:0001589	frameshift_variant	9435			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.600delA	chr3.hg19:g.142840258delA	ENSP00000307911:p.Val200fs		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Frame_Shift_Del	DEL	ENST00000309575.3	hg19	CCDS3129.1																																																																																				0.577	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		-	142840258	A	-	142840258	7	5	306	1	0	1	0	1	0	0	0	0	3406	436	16	0	602	0	CHST2	3	142840258	Frame_Shift_Del	DEL	A	TCGA-B9-A8YH-01A-11D-A36X-10	2	142840258	55182172	25	18228	143	2									
DSPP	1834	hgsc.bcm.edu	37	4	88536436	88536436	+	Silent	SNP	C	C	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr4:88536436C>T	ENST00000282478.7	+	4	2655	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	DSPP_ENST00000399271.1_Silent_p.S874S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	874	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagcaacagcagtg	0.502																																																0													70	85	79					4																	88536436		1641	2936	4577	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2622C>T	chr4.hg19:g.88536436C>T			A8MUI0|O95815	Silent	SNP	ENST00000282478.7	hg19	CCDS43248.1																																																																																				0.502	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		T	88536436	C	T	88536436	2	4	306	1	0	0	0	0	0	0	0	1	4784	709	25	2		2	DSPP	4	88536436	Silent	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10		88536436	102617840	26	18229											
RAP1GDS1	5910	hgsc.bcm.edu	37	4	99363256	99363257	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr4:99363256_99363257delTG	ENST00000408927.3	+	15	1925_1926	c.1812_1813delTG	c.(1810-1815)actgtgfs	p.V605fs	RAP1GDS1_ENST00000453712.2_Frame_Shift_Del_p.V605fs|RAP1GDS1_ENST00000380158.4_Frame_Shift_Del_p.V557fs|RAP1GDS1_ENST00000264572.7_Frame_Shift_Del_p.V514fs|RAP1GDS1_ENST00000339360.5_Frame_Shift_Del_p.V606fs|RAP1GDS1_ENST00000408900.3_Frame_Shift_Del_p.V556fs	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	605					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AGAGACTTACTGTGGAAAGCTG	0.49			T	NUP98	T-ALL																																		Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	0																																										SO:0001589	frameshift_variant	5910				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1812_1813delTG	chr4.hg19:g.99363258_99363259delTG	ENSP00000386153:p.Val605fs		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Frame_Shift_Del	DEL	ENST00000408927.3	hg19	CCDS43253.1																																																																																				0.49	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		-	99363257	TG	-	99363256	7	5	306	1	0	1	0	1	0	0	0	0	13045	1567	55	0	1873	0	RAP1GDS1	4	99363256	Frame_Shift_Del	DEL	TG	TCGA-B9-A8YH-01A-11D-A36X-10	10826820	99363256	91791020	27	18230											
CCRN4L	25819	hgsc.bcm.edu	37	4	139965852	139965871	+	Frame_Shift_Del	DEL	GAAAGGAAATGTCTCATCCT	GAAAGGAAATGTCTCATCCT	-	rs527306073|rs150676868		TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	GAAAGGAAATGTCTCATCCT	GAAAGGAAATGTCTCATCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr4:139965852_139965871delGAAAGGAAATGTCTCATCCT	ENST00000280614.2	+	3	713_732	c.520_539delGAAAGGAAATGTCTCATCCT	c.(520-540)gaaaggaaatgtctcatcctgfs	p.ERKCLIL174fs	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	174					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CAAATGGGAAGAAAGGAAATGTCTCATCCTGGAAGAAATC	0.45																																					Ovarian(144;566 1842 19130 21379 22209)											0																																										SO:0001589	frameshift_variant	25819			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.520_539delGAAAGGAAATGTCTCATCCT	chr4.hg19:g.139965852_139965871delGAAAGGAAATGTCTCATCCT	ENSP00000280614:p.Glu174fs		D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Frame_Shift_Del	DEL	ENST00000280614.2	hg19	CCDS3743.1																																																																																				0.45	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		-	139965871	GAAAGGAAATGTCTCATCCT	-	139965852	7	5	306	1	0	1	0	1	0	0	0	0	2953	943	33	0	530	0	CCRN4L	4	139965852	Frame_Shift_Del	DEL	GAAAGGAAATGTCTCATCCT	TCGA-B9-A8YH-01A-11D-A36X-10	40602596	139965852	51188424	28	18231											
LRBA	987	hgsc.bcm.edu	37	4	151520233	151520233	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr4:151520233C>T	ENST00000357115.3	-	38	6215	c.5972G>A	c.(5971-5973)cGc>cAc	p.R1991H	LRBA_ENST00000507224.1_Missense_Mutation_p.R1991H|LRBA_ENST00000535741.1_Missense_Mutation_p.R1991H|LRBA_ENST00000510413.1_Missense_Mutation_p.R1991H	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1991	Poly-Arg.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCGTCGCCGGCGCCGCAAGTC	0.488																																																0													111	100	104					4																	151520233		2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5972G>A	chr4.hg19:g.151520233C>T	ENSP00000349629:p.Arg1991His		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	hg19	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.380224|4.380224	0.82682|0.82682	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.60672	.|0.17;0.17;0.17;0.17	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Domain of unknown function DUF1088 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79627|0.79627	0.4478|0.4478	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.91635	.|0.999;0.989	T|T	0.81422|0.81422	-0.0940|-0.0940	5|10	.|0.72032	.|D	.|0.01	.|.	19.872|19.872	0.96854|0.96854	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1991;1991	.|P50851;P50851-2	.|LRBA_HUMAN;.	T|H	644|1991	.|ENSP00000446299:R1991H;ENSP00000421552:R1991H;ENSP00000349629:R1991H;ENSP00000422180:R1991H	.|ENSP00000349629:R1991H	A|R	-|-	1|2	0|0	LRBA|LRBA	151739683|151739683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.776000|7.776000	0.85560|0.85560	2.779000|2.779000	0.95612|0.95612	0.585000|0.585000	0.79938|0.79938	GCC|CGC		0.488	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			T	151520233	C	T	151520233	3	4	306	1	0	0	0	0	1	0	0	0	8933	768	27	1	2703	1	LRBA	4	151520233	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	11554381	151520233	39634043	29	18232											
SLC12A7	10723	hgsc.bcm.edu	37	5	1087036	1087036	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr5:1087036delC	ENST00000264930.5	-	6	700	c.657delG	c.(655-657)gggfs	p.G219fs		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	219					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTCGATGGTCCCCAAAATAT	0.582																																																0													74	73	73					5																	1087036		2203	4300	6503	SO:0001589	frameshift_variant	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.657delG	chr5.hg19:g.1087036delC	ENSP00000264930:p.Gly219fs		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Frame_Shift_Del	DEL	ENST00000264930.5	hg19	CCDS34129.1																																																																																				0.582	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		-	1087036	C	-	1087036	7	5	306	1	0	1	0	1	0	0	0	0	14394	842	30	0	2670	0	SLC12A7	5	1087036	Frame_Shift_Del	DEL	C	TCGA-B9-A8YH-01A-11D-A36X-10		1087036	179828224	30	18233	144	2									
SLC12A7	10723	hgsc.bcm.edu	37	5	1087045	1087045	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr5:1087045A>T	ENST00000264930.5	-	6	691	c.648T>A	c.(646-648)taT>taA	p.Y216*		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	216					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCCCAAAATATACATGGCCC	0.587																																																0													71	70	70					5																	1087045		2203	4300	6503	SO:0001587	stop_gained	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.648T>A	chr5.hg19:g.1087045A>T	ENSP00000264930:p.Tyr216*		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Nonsense_Mutation	SNP	ENST00000264930.5	hg19	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656716	0.67586	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	.	.	.	3.93	-0.467	0.12150	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6725	0.34159	0.409:0.0:0.591:0.0	.	.	.	.	X	216	.	ENSP00000264930:Y216X	Y	-	3	2	SLC12A7	1140045	1.000000	0.71417	0.898000	0.35279	0.171000	0.22731	1.306000	0.33505	-0.071000	0.12886	-0.366000	0.07423	TAT		0.587	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		T	1087045	A	T	1087045	4	4	306	1	0	0	0	0	0	1	0	0	14394	456	16	5	2679	5	SLC12A7	5	1087045	Nonsense_Mutation	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	9	1087045	179828215	31	18234	144	2									
HEXB	3074	hgsc.bcm.edu	37	5	74009349	74009349	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr5:74009349C>A	ENST00000261416.7	+	7	907	c.790C>A	c.(790-792)Cat>Aat	p.H264N	HEXB_ENST00000511181.1_Missense_Mutation_p.H39N	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	264					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTCTTTGTCTCATGTTTATAC	0.373																																					Melanoma(66;841 1270 13391 18706 27225)											0													149	148	148					5																	74009349		2203	4300	6503	SO:0001583	missense	3074			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.790C>A	chr5.hg19:g.74009349C>A	ENSP00000261416:p.His264Asn			Missense_Mutation	SNP	ENST00000261416.7	hg19	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915689	0.52546	.	.	ENSG00000049860	ENST00000511181;ENST00000261416	D;D	0.95377	-3.69;-3.69	5.73	4.86	0.63082	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.000000	0.85682	D	0.000000	D	0.97636	0.9225	M	0.83223	2.63	0.80722	D	1	D	0.58970	0.984	D	0.69142	0.962	D	0.97847	1.0272	10	0.52906	T	0.07	-19.5886	16.7955	0.85601	0.0:0.871:0.129:0.0	.	264	P07686	HEXB_HUMAN	N	39;264	ENSP00000426285:H39N;ENSP00000261416:H264N	ENSP00000261416:H264N	H	+	1	0	HEXB	74045105	1.000000	0.71417	0.982000	0.44146	0.733000	0.41908	4.019000	0.57181	1.406000	0.46857	0.650000	0.86243	CAT		0.373	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		A	74009349	C	A	74009349	3	1	306	1	0	0	0	0	1	0	0	0	7076	826	29	4	816	4	HEXB	5	74009349	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	72922304	74009349	106905911	32	18235											
LNPEP	4012	hgsc.bcm.edu	37	5	96329525	96329525	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr5:96329525G>T	ENST00000231368.5	+	6	1949	c.1257G>T	c.(1255-1257)ttG>ttT	p.L419F	LNPEP_ENST00000395770.3_Missense_Mutation_p.L405F	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	419					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GTCCAGATTTGGTGGCTATTC	0.393																																																0													140	136	137					5																	96329525		2203	4300	6503	SO:0001583	missense	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1257G>T	chr5.hg19:g.96329525G>T	ENSP00000231368:p.Leu419Phe		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	hg19	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933413	0.73442	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.05382	3.45;3.45	4.89	4.89	0.63831	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000003	T	0.24586	0.0596	M	0.75884	2.315	0.58432	D	0.999998	D	0.71674	0.998	D	0.81914	0.995	T	0.00465	-1.1723	10	0.66056	D	0.02	.	14.7976	0.69889	0.0:0.1448:0.8552:0.0	.	419	Q9UIQ6	LCAP_HUMAN	F	419;405	ENSP00000231368:L419F;ENSP00000379117:L405F	ENSP00000231368:L419F	L	+	3	2	LNPEP	96355281	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.863000	0.56016	2.409000	0.81822	0.655000	0.94253	TTG		0.393	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		T	96329525	G	T	96329525	3	4	306	1	0	0	0	0	1	0	0	0	8866	1339	47	4	1279	4	LNPEP	5	96329525	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	22320176	96329525	84585735	33	18236											
KIAA0141	9812	hgsc.bcm.edu	37	5	141313856	141313856	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr5:141313856T>C	ENST00000432126.2	+	9	1083	c.949T>C	c.(949-951)Tac>Cac	p.Y317H	KIAA0141_ENST00000194118.4_Missense_Mutation_p.Y317H	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	317					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGCTCAGTACCGCTATGC	0.597																																																0													44	42	43					5																	141313856		2203	4300	6503	SO:0001583	missense	9812			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.949T>C	chr5.hg19:g.141313856T>C	ENSP00000396225:p.Tyr317His		Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	hg19	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451431	0.84209	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.58060	0.55;0.55;0.36	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);	0.124431	0.56097	D	0.000025	T	0.68723	0.3032	L	0.61218	1.895	0.40580	D	0.981385	D	0.89917	1.0	D	0.91635	0.999	T	0.71862	-0.4464	10	0.59425	D	0.04	-18.5976	12.5686	0.56323	0.0:0.0:0.0:1.0	.	317	Q14154	DELE_HUMAN	H	317;317;311	ENSP00000396225:Y317H;ENSP00000194118:Y317H;ENSP00000422686:Y311H	ENSP00000194118:Y317H	Y	+	1	0	KIAA0141	141294040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.534000	0.67167	2.217000	0.71921	0.533000	0.62120	TAC		0.597	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		C	141313856	T	C	141313856	3	2	306	1	0	0	0	0	1	0	0	0	8158	1638	57	3	983	3	KIAA0141	5	141313856	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	44984331	141313856	39601404	34	18237											
DHX16	8449	hgsc.bcm.edu	37	6	30638231	30638231	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr6:30638231C>G	ENST00000376442.3	-	4	817	c.622G>C	c.(622-624)Gct>Cct	p.A208P		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	208					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CGCTTCTGAGCCTCTTCATAA	0.522																																																0													32	31	31					6																	30638231		1507	2708	4215	SO:0001583	missense	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.622G>C	chr6.hg19:g.30638231C>G	ENSP00000365625:p.Ala208Pro		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	hg19	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624830	0.87560	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.52295	0.67;0.67	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	M	0.85197	2.74	0.80722	D	1	D;B	0.76494	0.999;0.029	D;B	0.67103	0.949;0.04	T	0.65882	-0.6060	10	0.38643	T	0.18	.	17.0904	0.86620	0.0:1.0:0.0:0.0	.	148;208	B4DZ28;O60231	.;DHX16_HUMAN	P	208;148	ENSP00000365625:A208P;ENSP00000399101:A148P	ENSP00000365625:A208P	A	-	1	0	DHX16	30746210	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.452000	0.73485	2.560000	0.86352	0.455000	0.32223	GCT		0.522	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		G	30638231	C	G	30638231	3	3	306	1	0	0	0	0	1	0	0	0	4504	739	26	4	2571	4	DHX16	6	30638231	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10		30638231	140476836	35	18238											
NFYA	4800	hgsc.bcm.edu	37	6	41046900	41046900	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr6:41046900G>T	ENST00000341376.6	+	2	273	c.72G>T	c.(70-72)caG>caT	p.Q24H	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Missense_Mutation_p.Q24H	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	24	Gln-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGATTCAGCAGCAGGTATGGA	0.443																																																0													143	124	131					6																	41046900		2203	4300	6503	SO:0001583	missense	4800				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.72G>T	chr6.hg19:g.41046900G>T	ENSP00000345702:p.Gln24His		Q8IXU0	Missense_Mutation	SNP	ENST00000341376.6	hg19	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422564	0.62622	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	6.17	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.44542	1.39	0.45883	D	0.998735	D;P	0.54397	0.966;0.943	P;D	0.66979	0.891;0.948	T	0.59952	-0.7357	9	0.46703	T	0.11	-3.2484	12.333	0.55049	0.1369:0.0:0.8631:0.0	.	24;24	P23511-2;P23511	.;NFYA_HUMAN	H	24	.	ENSP00000345702:Q24H	Q	+	3	2	NFYA	41154878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.759000	0.38420	1.620000	0.50308	0.655000	0.94253	CAG		0.443	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			T	41046900	G	T	41046900	3	4	306	1	0	0	0	0	1	0	0	0	10391	962	34	4	74	4	NFYA	6	41046900	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	10408669	41046900	130068167	36	18239											
PHF3	23469	hgsc.bcm.edu	37	6	64395141	64395141	+	Silent	SNP	G	G	A	rs149984169		TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr6:64395141G>A	ENST00000262043.3	+	4	1858	c.1518G>A	c.(1516-1518)ccG>ccA	p.P506P	PHF3_ENST00000393387.1_Silent_p.P506P|PHF3_ENST00000509330.1_Silent_p.P506P			Q92576	PHF3_HUMAN	PHD finger protein 3	506					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAGATGCTCCGAAGAAAATTG	0.343																																					GBM(135;136 1820 29512 34071 46235)											0													40	43	42					6																	64395141		2203	4297	6500	SO:0001819	synonymous_variant	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1518G>A	chr6.hg19:g.64395141G>A			A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	hg19	CCDS4966.1																																																																																				0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			A	64395141	G	A	64395141	2	1	306	1	0	0	0	0	0	0	0	1	11838	1045	37	1		1	PHF3	6	64395141	Silent	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	23348241	64395141	106719926	37	18240											
OGFRL1	79627	hgsc.bcm.edu	37	6	72011551	72011551	+	Silent	SNP	C	C	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr6:72011551C>T	ENST00000370435.4	+	7	1289	c.1155C>T	c.(1153-1155)agC>agT	p.S385S	RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	385						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CAGAGCCCAGCAATGAAGCTG	0.453																																																0													51	58	56					6																	72011551		2203	4300	6503	SO:0001819	synonymous_variant	79627				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1155C>T	chr6.hg19:g.72011551C>T			Q2TAC1|Q8NEQ4|Q9H7B5	Silent	SNP	ENST00000370435.4	hg19	CCDS34482.1																																																																																				0.453	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		T	72011551	C	T	72011551	2	4	306	1	0	0	0	0	0	0	0	1	10846	709	25	2		2	OGFRL1	6	72011551	Silent	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	7616410	72011551	99103516	38	18241											
MYO6	4646	hgsc.bcm.edu	37	6	76621412	76621412	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr6:76621412T>G	ENST00000369977.3	+	33	3575	c.3436T>G	c.(3436-3438)Tca>Gca	p.S1146A	MYO6_ENST00000369985.4_Missense_Mutation_p.S1123A|MYO6_ENST00000369981.3_Intron|MYO6_ENST00000369975.1_Intron	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1155					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTGAACAATTCACGTAAGTC	0.279																																																0													80	79	79					6																	76621412		2203	4298	6501	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3436T>G	chr6.hg19:g.76621412T>G	ENSP00000358994:p.Ser1146Ala		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	hg19	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	T	5.623	0.299601	0.10622	.	.	ENSG00000196586	ENST00000428345;ENST00000369985;ENST00000369977	D;T	0.88586	-2.4;-1.05	5.93	4.78	0.61160	.	0.536594	0.18535	N	0.138382	T	0.50171	0.1600	N	0.01352	-0.895	0.80722	D	1	B;B	0.24768	0.0;0.111	B;B	0.25405	0.0;0.06	T	0.57556	-0.7791	10	0.07644	T	0.81	.	8.5494	0.33442	0.0:0.0681:0.1314:0.8005	.	1123;1146	Q9UM54-2;Q9UM54-1	.;.	A	1156;1123;1146	ENSP00000359002:S1123A;ENSP00000358994:S1146A	ENSP00000358994:S1146A	S	+	1	0	MYO6	76678132	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.427000	0.44740	2.270000	0.75569	0.460000	0.39030	TCA		0.279	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		G	76621412	T	G	76621412	3	3	306	1	0	0	0	0	1	0	0	0	10083	1783	62	5	3562	5	MYO6	6	76621412	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	4609861	76621412	94493655	39	18242											
SLC2A12	154091	hgsc.bcm.edu	37	6	134350058	134350058	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr6:134350058G>A	ENST00000275230.5	-	2	1060	c.905C>T	c.(904-906)tCa>tTa	p.S302L		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	302					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CAAAACAGTTGATGCATAGAA	0.438																																					Melanoma(122;1663 1672 14489 35294 41228)											0													78	71	73					6																	134350058		2203	4300	6503	SO:0001583	missense	154091			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.905C>T	chr6.hg19:g.134350058G>A	ENSP00000275230:p.Ser302Leu		B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	hg19	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418468	0.83559	.	.	ENSG00000146411	ENST00000275230	T	0.81163	-1.46	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89164	0.6637	M	0.82923	2.615	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.90629	0.4565	10	0.87932	D	0	-11.8076	18.6483	0.91419	0.0:0.0:1.0:0.0	.	302	Q8TD20	GTR12_HUMAN	L	302	ENSP00000275230:S302L	ENSP00000275230:S302L	S	-	2	0	SLC2A12	134391751	1.000000	0.71417	0.979000	0.43373	0.931000	0.56810	9.476000	0.97823	2.426000	0.82243	0.467000	0.42956	TCA		0.438	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			A	134350058	G	A	134350058	3	1	306	1	0	0	0	0	1	0	0	0	14547	1294	45	2	964	2	SLC2A12	6	134350058	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	57728646	134350058	36765009	40	18243											
SGK1	6446	hgsc.bcm.edu	37	6	134495179	134495179	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr6:134495179C>A	ENST00000237305.7	-	3	280	c.192G>T	c.(190-192)caG>caT	p.Q64H	SGK1_ENST00000367858.5_Missense_Mutation_p.Q159H|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Missense_Mutation_p.Q64H|SGK1_ENST00000528577.1_Missense_Mutation_p.Q92H|SGK1_ENST00000367857.5_Missense_Mutation_p.Q54H|SGK1_ENST00000413996.3_Missense_Mutation_p.Q78H	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	64					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GCTCAGGCTCCTGAGGTTGGG	0.493																																																0													146	139	141					6																	134495179		2203	4300	6503	SO:0001583	missense	6446			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.192G>T	chr6.hg19:g.134495179C>A	ENSP00000237305:p.Gln64His		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	hg19	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879434	0.51801	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T	0.73258	-0.73;-0.71;-0.72;-0.72;-0.71;-0.73	5.99	2.79	0.32731	.	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	L	0.59436	1.845	0.80722	D	1	B;D;B;B;B;B	0.54964	0.018;0.969;0.013;0.001;0.018;0.006	B;P;B;B;B;B	0.47981	0.021;0.563;0.009;0.008;0.037;0.006	T	0.59632	-0.7418	10	0.62326	D	0.03	.	5.6053	0.17377	0.0:0.383:0.0:0.617	.	92;78;64;54;159;64	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	H	159;78;64;54;92;64;128	ENSP00000356832:Q159H;ENSP00000396242:Q78H;ENSP00000237305:Q64H;ENSP00000356831:Q54H;ENSP00000434450:Q92H;ENSP00000434302:Q64H	ENSP00000237305:Q64H	Q	-	3	2	SGK1	134536872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.913000	0.39956	0.797000	0.33971	0.655000	0.94253	CAG		0.493	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			A	134495179	C	A	134495179	3	1	306	1	0	0	0	0	1	0	0	0	14213	680	24	4	1143	4	SGK1	6	134495179	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	145121	134495179	36619888	41	18244											
AUTS2	26053	hgsc.bcm.edu	37	7	70239070	70239070	+	Silent	SNP	C	C	T	rs143201197		TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr7:70239070C>T	ENST00000342771.4	+	12	2208	c.1887C>T	c.(1885-1887)ctC>ctT	p.L629L	AUTS2_ENST00000406775.2_Intron	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	629										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACACTTTACTCCAAAAGGACC	0.527																																																0													123	96	105					7																	70239070		2203	4300	6503	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1887C>T	chr7.hg19:g.70239070C>T			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	hg19	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	7.138	0.581166	0.13686	.	.	ENSG00000158321	ENST00000443672	.	.	.	6.06	-4.78	0.03209	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36114	-0.9761	4	.	.	.	-37.1785	1.0348	0.01546	0.1989:0.2867:0.2715:0.2428	.	.	.	.	F	156	.	.	S	+	2	0	AUTS2	69877006	0.606000	0.26949	0.424000	0.26647	0.944000	0.59088	-0.128000	0.10531	-0.883000	0.03982	-2.134000	0.00341	TCC		0.527	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			T	70239070	C	T	70239070	2	4	306	1	0	0	0	0	0	0	0	1	1225	842	30	2		2	AUTS2	7	70239070	Silent	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10		70239070	88899593	42	18245											
TFR2	7036	hgsc.bcm.edu	37	7	100238449	100238449	+	Silent	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr7:100238449G>A	ENST00000462107.1	-	4	620	c.333C>T	c.(331-333)tgC>tgT	p.C111C	TFR2_ENST00000431692.1_Silent_p.C111C|TFR2_ENST00000223051.3_Silent_p.C111C			Q9UP52	TFR2_HUMAN	transferrin receptor 2	111					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CAGAGTCTCCGCACGCCTGGC	0.592																																																0													68	63	64					7																	100238449		2203	4300	6503	SO:0001819	synonymous_variant	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.333C>T	chr7.hg19:g.100238449G>A			A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	ENST00000462107.1	hg19	CCDS34707.1																																																																																				0.592	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		A	100238449	G	A	100238449	2	1	306	1	0	0	0	0	0	0	0	1	15816	1079	38	1		1	TFR2	7	100238449	Silent	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	29999379	100238449	58900214	43	18246											
AASS	10157	hgsc.bcm.edu	37	7	121755193	121755193	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr7:121755193C>G	ENST00000393376.1	-	8	1073	c.978G>C	c.(976-978)caG>caC	p.Q326H	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.Q326H			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	326	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CCAGGAGACTCTGAGCATCTT	0.483																																																0													125	117	120					7																	121755193		2203	4300	6503	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.978G>C	chr7.hg19:g.121755193C>G	ENSP00000377040:p.Gln326His		O95462	Missense_Mutation	SNP	ENST00000393376.1	hg19	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702335	0.68501	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.83755	-1.76;-1.76	5.68	1.33	0.21861	Alanine dehydrogenase/PNT, C-terminal (1);	0.051519	0.85682	D	0.000000	D	0.87549	0.6205	M	0.83483	2.645	0.54753	D	0.999989	P	0.45428	0.858	P	0.54312	0.748	D	0.85721	0.1325	10	0.72032	D	0.01	-9.2803	9.477	0.38878	0.0:0.6502:0.0:0.3498	.	326	Q9UDR5	AASS_HUMAN	H	326	ENSP00000377040:Q326H;ENSP00000403768:Q326H	ENSP00000351834:Q326H	Q	-	3	2	AASS	121542429	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	1.188000	0.32102	-0.038000	0.13624	-0.142000	0.14014	CAG		0.483	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		G	121755193	C	G	121755193	3	3	306	1	0	0	0	0	1	0	0	0	24	912	32	4	1866	4	AASS	7	121755193	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	21516744	121755193	37383470	44	18247											
ZNF467	168544	hgsc.bcm.edu	37	7	149462502	149462502	+	Silent	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr7:149462502G>A	ENST00000302017.3	-	5	1502	c.1089C>T	c.(1087-1089)agC>agT	p.S363S	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCAGCCGAAGCTCAAGCCGC	0.657																																																0													12	13	12					7																	149462502		2181	4279	6460	SO:0001819	synonymous_variant	168544			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1089C>T	chr7.hg19:g.149462502G>A				Silent	SNP	ENST00000302017.3	hg19	CCDS5899.1																																																																																				0.657	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		A	149462502	G	A	149462502	2	1	306	1	0	0	0	0	0	0	0	1	17932	962	34	2		2	ZNF467	7	149462502	Silent	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	27707309	149462502	9676161	45	18248											
CSMD1	64478	hgsc.bcm.edu	37	8	4494878	4494878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr8:4494878delC	ENST00000520002.1	-	2	843	c.288delG	c.(286-288)gggfs	p.G96fs	CSMD1_ENST00000602723.1_Frame_Shift_Del_p.G96fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.G96fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.G96fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.G96fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.G96fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.G96fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	96	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTTTAAATTCCCTTGTTGAG	0.333																																																0													100	99	99					8																	4494878		1858	4100	5958	SO:0001589	frameshift_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.288delG	chr8.hg19:g.4494878delC	ENSP00000430733:p.Gly96fs		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	ENST00000520002.1	hg19																																																																																					0.333	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		-	4494878	C	-	4494878	7	5	306	1	0	1	0	1	0	0	0	0	3946	842	30	0	10495	0	CSMD1	8	4494878	Frame_Shift_Del	DEL	C	TCGA-B9-A8YH-01A-11D-A36X-10		4494878	141869144	46	18249											
BLK	640	hgsc.bcm.edu	37	8	11412365	11412365	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr8:11412365C>T	ENST00000259089.4	+	7	1178	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	RP11-148O21.4_ENST00000528629.1_RNA|RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Missense_Mutation_p.P125S|RP11-148O21.6_ENST00000602626.1_lincRNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	196	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GATCACCTTCCCCTCGCTCCA	0.587																																																0													45	42	43					8																	11412365		2203	4300	6503	SO:0001583	missense	640			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.586C>T	chr8.hg19:g.11412365C>T	ENSP00000259089:p.Pro196Ser		Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	hg19	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	C	9.081	0.999208	0.19121	.	.	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894	T;T	0.25085	1.82;1.82	4.57	4.57	0.56435	SH2 motif (5);	0.171825	0.27807	N	0.017777	T	0.13543	0.0328	N	0.20986	0.625	0.80722	D	1	B	0.13594	0.008	B	0.25405	0.06	T	0.11941	-1.0567	10	0.07482	T	0.82	.	5.3329	0.15942	0.0:0.6497:0.1766:0.1737	.	196	P51451	BLK_HUMAN	S	196;196;125	ENSP00000259089:P196S;ENSP00000433663:P125S	ENSP00000259089:P196S	P	+	1	0	BLK	11449774	0.000000	0.05858	1.000000	0.80357	0.969000	0.65631	-0.136000	0.10405	2.249000	0.74217	0.462000	0.41574	CCC		0.587	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			T	11412365	C	T	11412365	3	4	306	1	0	0	0	0	1	0	0	0	1444	623	22	2	608	2	BLK	8	11412365	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	6917487	11412365	134951657	47	18250											
ASPH	444	hgsc.bcm.edu	37	8	62556523	62556523	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr8:62556523C>A	ENST00000379454.4	-	8	877	c.690G>T	c.(688-690)atG>atT	p.M230I	ASPH_ENST00000517847.2_Missense_Mutation_p.M216I|ASPH_ENST00000445642.3_Missense_Mutation_p.M216I|ASPH_ENST00000522919.1_Missense_Mutation_p.M43I|ASPH_ENST00000541428.1_Missense_Mutation_p.M201I|ASPH_ENST00000522835.1_Missense_Mutation_p.M173I|ASPH_ENST00000517903.1_Missense_Mutation_p.M216I|ASPH_ENST00000523897.1_5'Flank|ASPH_ENST00000356457.5_Missense_Mutation_p.M230I|ASPH_ENST00000518068.1_Missense_Mutation_p.M187I	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	230	Glu-rich.				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)	CCTGCTCAGACATCATCTCTT	0.328																																																0													80	77	78					8																	62556523		2202	4298	6500	SO:0001583	missense	444			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.690G>T	chr8.hg19:g.62556523C>A	ENSP00000368767:p.Met230Ile		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	hg19	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.308824	0.01342	.	.	ENSG00000198363	ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835	T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.22	-3.83	0.04269	Aspartyl beta-hydroxylase/Triadin domain (1);	1.348970	0.04759	N	0.425950	T	0.40815	0.1132	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B;B	0.13145	0.0;0.0;0.0;0.007;0.0;0.0;0.0	B;B;B;B;B;B;B	0.12837	0.003;0.002;0.002;0.008;0.001;0.002;0.003	T	0.30592	-0.9973	10	0.40728	T	0.16	0.7054	7.006	0.24836	0.1179:0.3434:0.0:0.5387	.	173;216;201;187;230;216;230	B4DIC9;B7ZM95;F5H667;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;ASPH_HUMAN	I	201;230;43;230;245;187;216;216;216;173	ENSP00000437864:M201I;ENSP00000368767:M230I;ENSP00000430516:M43I;ENSP00000348841:M230I;ENSP00000427823:M245I;ENSP00000429286:M187I;ENSP00000430245:M216I;ENSP00000394013:M216I;ENSP00000429954:M216I;ENSP00000429160:M173I	ENSP00000348841:M230I	M	-	3	0	ASPH	62719077	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.322000	0.01118	-0.795000	0.04462	-0.895000	0.02911	ATG		0.328	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		A	62556523	C	A	62556523	3	1	306	1	0	0	0	0	1	0	0	0	1053	478	17	4	1670	4	ASPH	8	62556523	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	51144158	62556523	83807499	48	18251											
TAF2	6873	hgsc.bcm.edu	37	8	120831745	120831745	+	Splice_Site	DEL	C	C	-			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr8:120831745delC	ENST00000378164.2	-	3	438	c.140delG	c.(139-141)gga>ga	p.G47fs		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	47					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCCACAAATCCCTGTAAAGA	0.308																																																0													84	84	84					8																	120831745		2203	4300	6503	SO:0001630	splice_region_variant	6873			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.139-1G>-	chr8.hg19:g.120831745delC			B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Frame_Shift_Del	DEL	ENST00000378164.2	hg19	CCDS34937.1																																																																																				0.308	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	Frame_Shift_Del	-	120831745	C	-	120831745	8	5	306	1	0	1	0	1	0	0	1	0	15529	869	30	0	3555	0	TAF2	8	120831745	Splice_Site	DEL	C	TCGA-B9-A8YH-01A-11D-A36X-10	58275222	120831745	25532277	49	18252											
PYCRL	65263	hgsc.bcm.edu	37	8	144689268	144689268	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr8:144689268T>G	ENST00000220966.6	-	3	256	c.227A>C	c.(226-228)gAg>gCg	p.E76A	PYCRL_ENST00000377579.3_5'UTR|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	64					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	CTGCAGCACCTCCTGGTTGGA	0.632																																																0													46	38	41					8																	144689268		2202	4294	6496	SO:0001583	missense	65263			AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.227A>C	chr8.hg19:g.144689268T>G	ENSP00000220966:p.Glu76Ala		B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Missense_Mutation	SNP	ENST00000220966.6	hg19	CCDS6407.2	.	.	.	.	.	.	.	.	.	.	T	17.02	3.280808	0.59758	.	.	ENSG00000104524	ENST00000220966;ENST00000433751	T;T	0.68181	-0.31;-0.31	4.67	4.67	0.58626	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	L	0.41124	1.26	0.80722	D	1	D;P	0.63046	0.992;0.934	D;P	0.63283	0.913;0.677	T	0.72001	-0.4422	10	0.59425	D	0.04	-26.6107	9.3378	0.38060	0.0:0.0:0.1806:0.8194	.	76;64	D3DWK4;Q53H96	.;P5CR3_HUMAN	A	76;71	ENSP00000220966:E76A;ENSP00000404493:E71A	ENSP00000220966:E76A	E	-	2	0	PYCRL	144760411	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	4.821000	0.62679	1.743000	0.51761	0.379000	0.24179	GAG		0.632	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		G	144689268	T	G	144689268	3	3	306	1	0	0	0	0	1	0	0	0	12863	1551	54	5	649	5	PYCRL	8	144689268	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	23857523	144689268	1674754	50	18253											
UNC13B	10497	hgsc.bcm.edu	37	9	35396502	35396502	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr9:35396502G>A	ENST00000378495.3	+	26	3313	c.3091G>A	c.(3091-3093)Gct>Act	p.A1031T	UNC13B_ENST00000378496.4_Missense_Mutation_p.A1031T|UNC13B_ENST00000396787.1_Missense_Mutation_p.A1043T	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1031	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTGTAAAAGTGCTGACTACAT	0.552																																																0													112	91	98					9																	35396502		2203	4300	6503	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3091G>A	chr9.hg19:g.35396502G>A	ENSP00000367756:p.Ala1031Thr		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	hg19	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503565	0.44558	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.84146	-1.68;-1.62;-1.81	4.95	4.95	0.65309	Munc13 homology 1 (1);	0.095455	0.64402	D	0.000001	T	0.70020	0.3176	N	0.10972	0.075	0.51482	D	0.999927	B;B	0.32365	0.367;0.007	B;B	0.28232	0.087;0.014	T	0.70142	-0.4953	10	0.06625	T	0.88	-13.5866	18.3726	0.90412	0.0:0.0:1.0:0.0	.	1031;1031	F8W8M9;O14795	.;UN13B_HUMAN	T	1043;1031;1031;618	ENSP00000380006:A1043T;ENSP00000367756:A1031T;ENSP00000367757:A1031T	ENSP00000367756:A1031T	A	+	1	0	UNC13B	35386502	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.120000	0.71596	2.561000	0.86390	0.563000	0.77884	GCT		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		A	35396502	G	A	35396502	3	1	306	1	0	0	0	0	1	0	0	0	16990	1319	46	2	3193	2	UNC13B	9	35396502	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10		35396502	105816929	51	18254											
ECM2	1842	hgsc.bcm.edu	37	9	95272295	95272295	+	Silent	SNP	A	A	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr9:95272295A>G	ENST00000344604.5	-	6	1341	c.1192T>C	c.(1192-1194)Ttg>Ctg	p.L398L	ECM2_ENST00000444490.2_Silent_p.L376L|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	398					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCCATATTCAAACGCATTAAC	0.333																																																0													81	80	80					9																	95272295		2201	4298	6499	SO:0001819	synonymous_variant	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1192T>C	chr9.hg19:g.95272295A>G			B2R730|E2PU11|Q5T9F2|Q7Z3D0	Silent	SNP	ENST00000344604.5	hg19	CCDS6698.1																																																																																				0.333	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		G	95272295	A	G	95272295	2	3	306	1	0	0	0	0	0	0	0	1	4900	11	1	3		3	ECM2	9	95272295	Silent	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	59875793	95272295	45941136	52	18255											
C9orf102	375748	hgsc.bcm.edu	37	9	98684631	98684631	+	Silent	SNP	C	C	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr9:98684631C>T	ENST00000288985.7	+	8	1682	c.1377C>T	c.(1375-1377)taC>taT	p.Y459Y	ERCC6L2_ENST00000437817.1_Silent_p.Y270Y|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	459					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										ATCTCAGTTACCTTACAGTCC	0.393																																																0													101	89	93					9																	98684631		2203	4300	6503	SO:0001819	synonymous_variant	375748			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1377C>T	chr9.hg19:g.98684631C>T			A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000288985.7	hg19	CCDS35072.1																																																																																				0.393	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		T	98684631	C	T	98684631	2	4	306	1	0	0	0	0	0	0	0	1	2447	518	18	2		2	C9orf102	9	98684631	Silent	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	3412336	98684631	42528800	53	18256											
DDX31	64794	hgsc.bcm.edu	37	9	135505682	135505682	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr9:135505682A>G	ENST00000372159.3	-	16	2066	c.1915T>C	c.(1915-1917)Tat>Cat	p.Y639H	DDX31_ENST00000372153.1_Silent_p.N630N|DDX31_ENST00000438527.3_Missense_Mutation_p.Y510H	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	639	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GAGTTGACATATTCTGCCTCC	0.493																																																0													118	125	122					9																	135505682		2203	4300	6503	SO:0001583	missense	64794			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1915T>C	chr9.hg19:g.135505682A>G	ENSP00000361232:p.Tyr639His		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	hg19	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133832	0.77662	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000438527	T;T	0.04862	3.54;3.54	5.54	5.54	0.83059	Helicase, C-terminal (1);	0.109437	0.64402	D	0.000006	T	0.21550	0.0519	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.00184	-1.1944	10	0.87932	D	0	-14.67	14.9265	0.70881	1.0:0.0:0.0:0.0	.	639	Q9H8H2	DDX31_HUMAN	H	639;639;510	ENSP00000361232:Y639H;ENSP00000387730:Y510H	ENSP00000361228:Y639H	Y	-	1	0	DDX31	134495503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.561000	0.82288	2.117000	0.64856	0.529000	0.55759	TAT		0.493	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		G	135505682	A	G	135505682	3	3	306	1	0	0	0	0	1	0	0	0	4358	449	16	3	660	3	DDX31	9	135505682	Missense_Mutation	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	36821051	135505682	5707749	54	18257											
ARID5B	84159	hgsc.bcm.edu	37	10	63852419	63852419	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr10:63852419C>T	ENST00000279873.7	+	10	3607	c.3197C>T	c.(3196-3198)tCa>tTa	p.S1066L	ARID5B_ENST00000309334.5_Missense_Mutation_p.S823L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1066					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGGGGCGGATCAGAAGGCCAC	0.612																																																0													72	70	71					10																	63852419		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3197C>T	chr10.hg19:g.63852419C>T	ENSP00000279873:p.Ser1066Leu		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	hg19	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.504483	0.00992	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.42131	0.98;0.99	5.72	2.16	0.27623	.	0.521061	0.22867	N	0.054680	T	0.19446	0.0467	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18713	-1.0328	10	0.17832	T	0.49	0.005	7.2708	0.26256	0.0:0.5022:0.0:0.4978	.	1066	Q14865	ARI5B_HUMAN	L	1066;823	ENSP00000279873:S1066L;ENSP00000308862:S823L	ENSP00000279873:S1066L	S	+	2	0	ARID5B	63522425	0.007000	0.16637	0.008000	0.14137	0.545000	0.35147	1.891000	0.39738	0.657000	0.30906	0.655000	0.94253	TCA		0.612	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		T	63852419	C	T	63852419	3	4	306	1	0	0	0	0	1	0	0	0	922	838	29	2	3235	2	ARID5B	10	63852419	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10		63852419	71682328	55	18258											
WAPAL	23063	hgsc.bcm.edu	37	10	88197365	88197365	+	Splice_Site	SNP	A	A	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr10:88197365A>G	ENST00000298767.5	-	19	3980	c.3508T>C	c.(3508-3510)Tgt>Cgt	p.C1170R	WAPAL_ENST00000484070.1_5'UTR|WAPAL_ENST00000372075.1_Splice_Site_p.C382R|WAPAL_ENST00000263070.7_Splice_Site_p.C382R	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1170					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CCAACAGCACACTGAAAGCAG	0.368																																																0													73	66	68					10																	88197365		2203	4300	6503	SO:0001630	splice_region_variant	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3508-1T>C	chr10.hg19:g.88197365A>G			A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	hg19	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.235515	0.58886	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T;T;T	0.36157	1.27;1.27;1.27	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.76494	0.99;0.99;0.99;0.999	P;P;P;D	0.68943	0.797;0.802;0.797;0.961	T	0.45687	-0.9244	10	0.32370	T	0.25	.	16.1534	0.81640	1.0:0.0:0.0:0.0	.	1164;1208;1170;1207	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	R	1255;1170;1255;382;382	ENSP00000298767:C1170R;ENSP00000361145:C382R;ENSP00000263070:C382R	ENSP00000263070:C382R	C	-	1	0	WAPAL	88187345	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.914000	0.92735	2.211000	0.71520	0.460000	0.39030	TGT		0.368	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045	Missense_Mutation	G	88197365	A	G	88197365	5	3	306	1	0	0	0	0	0	0	1	0	17253	173	6	3	68	3	WAPAL	10	88197365	Splice_Site	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	24344946	88197365	47337382	56	18259											
PYROXD2	84795	hgsc.bcm.edu	37	10	100167377	100167377	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr10:100167377G>T	ENST00000370575.4	-	4	325	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	93							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GGCCTCAGCAGGCTGAGCAGG	0.612																																																0													43	49	47					10																	100167377		2203	4300	6503	SO:0001583	missense	84795			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.277C>A	chr10.hg19:g.100167377G>T	ENSP00000359607:p.Leu93Met		D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	hg19	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801114	0.70567	.	.	ENSG00000119943	ENST00000370575	T	0.61510	0.1	5.18	3.3	0.37823	.	0.077564	0.53938	D	0.000058	T	0.56804	0.2010	L	0.41236	1.265	0.58432	D	0.999998	P	0.46277	0.875	P	0.51016	0.656	T	0.57499	-0.7801	10	0.87932	D	0	-31.4788	10.2148	0.43162	0.1473:0.0:0.8527:0.0	.	93	Q8N2H3	PYRD2_HUMAN	M	93	ENSP00000359607:L93M	ENSP00000359607:L93M	L	-	1	2	PYROXD2	100157367	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.676000	0.61627	0.565000	0.29255	0.563000	0.77884	CTG		0.612	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		T	100167377	G	T	100167377	3	4	306	1	0	0	0	0	1	0	0	0	12873	991	35	4	1520	4	PYROXD2	10	100167377	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	11970012	100167377	35367370	57	18260											
ADRA2A	150	hgsc.bcm.edu	37	10	112837876	112837876	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr10:112837876C>A	ENST00000280155.2	+	1	1087	c.122C>A	c.(121-123)aCc>aAc	p.T41N		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	26					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	gcccgggccACCCCTTACTCC	0.711																																					Esophageal Squamous(173;605 2658 7278 49362)											0													14	15	15					10																	112837876		2195	4289	6484	SO:0001583	missense	150			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.122C>A	chr10.hg19:g.112837876C>A	ENSP00000280155:p.Thr41Asn		B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	hg19	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683708	0.29872	.	.	ENSG00000150594	ENST00000280155	T	0.37584	1.19	4.91	3.02	0.34903	.	3.496670	0.01278	U	0.009655	T	0.21387	0.0515	N	0.08118	0	0.22171	N	0.999314	B	0.16802	0.019	B	0.17098	0.017	T	0.22977	-1.0201	10	0.15952	T	0.53	.	6.5228	0.22285	0.0:0.5318:0.3044:0.1638	.	26	P08913	ADA2A_HUMAN	N	41	ENSP00000280155:T41N	ENSP00000280155:T41N	T	+	2	0	ADRA2A	112827866	.	.	0.835000	0.33067	0.994000	0.84299	.	.	0.460000	0.27045	0.555000	0.69702	ACC		0.711	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		A	112837876	C	A	112837876	3	1	306	1	0	0	0	0	1	0	0	0	337	507	18	4	124	4	ADRA2A	10	112837876	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	12670499	112837876	22696871	58	18261											
ARHGAP1	392	hgsc.bcm.edu	37	11	46701795	46701795	+	Silent	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr11:46701795G>A	ENST00000311956.4	-	10	955	c.858C>T	c.(856-858)aaC>aaT	p.N286N		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	286	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		CCACTTGGGTGTTGGCCGACC	0.627																																																0													112	99	103					11																	46701795		2201	4299	6500	SO:0001819	synonymous_variant	392			BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"Rho GTPase activating proteins"	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.858C>T	chr11.hg19:g.46701795G>A			D3DQQ6	Silent	SNP	ENST00000311956.4	hg19	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	G	1.017	-0.686082	0.03328	.	.	ENSG00000175220	ENST00000528837	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.60919	0.2306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58940	-0.7547	4	.	.	.	.	9.5717	0.39431	0.0728:0.0:0.786:0.1411	.	.	.	.	Y	240	.	.	H	-	1	0	ARHGAP1	46658371	0.892000	0.30473	1.000000	0.80357	0.128000	0.20619	0.437000	0.21543	2.615000	0.88500	0.555000	0.69702	CAC		0.627	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		A	46701795	G	A	46701795	2	1	306	1	0	0	0	0	0	0	0	1	861	1368	48	2		2	ARHGAP1	11	46701795	Silent	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10		46701795	88304721	59	18262											
CKAP5	9793	hgsc.bcm.edu	37	11	46772905	46772905	+	Silent	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr11:46772905T>C	ENST00000529230.1	-	39	5359	c.5313A>G	c.(5311-5313)aaA>aaG	p.K1771K	CKAP5_ENST00000312055.5_Silent_p.K1711K|CKAP5_ENST00000354558.3_Silent_p.K1711K|CKAP5_ENST00000415402.1_Silent_p.K1771K|MIR5582_ENST00000579697.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1771					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.K1771K(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTTGGGCCCTTTTAATTTGC	0.443																																					Ovarian(4;85 273 2202 4844 13323)											1	Substitution - coding silent(1)	lung(1)											165	160	161					11																	46772905		2201	4299	6500	SO:0001819	synonymous_variant	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5313A>G	chr11.hg19:g.46772905T>C			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	hg19	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	8.631	0.893624	0.17613	.	.	ENSG00000175216	ENST00000525896	.	.	.	5.72	4.6	0.57074	.	.	.	.	.	T	0.57330	0.2046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55604	-0.8115	4	.	.	.	-13.3618	7.7932	0.29133	0.0:0.1821:0.0:0.8179	.	.	.	.	G	10	.	.	R	-	1	2	CKAP5	46729481	0.978000	0.34361	1.000000	0.80357	0.988000	0.76386	0.096000	0.15147	2.183000	0.69458	0.533000	0.62120	AGG		0.443	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		C	46772905	T	C	46772905	2	2	306	1	0	0	0	0	0	0	0	1	3447	1606	56	3		3	CKAP5	11	46772905	Silent	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	71110	46772905	88233611	60	18263											
MYBPC3	4607	hgsc.bcm.edu	37	11	47372130	47372130	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr11:47372130G>A	ENST00000545968.1	-	3	383	c.329C>T	c.(328-330)cCt>cTt	p.P110L	MYBPC3_ENST00000399249.2_Missense_Mutation_p.P110L|MYBPC3_ENST00000256993.4_Missense_Mutation_p.P110L	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	110	Pro-rich.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGCCTCAGCAGGGGCAGGGGC	0.672																																																0													7	8	8					11																	47372130		1838	4050	5888	SO:0001583	missense	4607			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.329C>T	chr11.hg19:g.47372130G>A	ENSP00000442795:p.Pro110Leu		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	hg19	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742480	0.49151	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.58940	0.3;0.3;0.36	2.16	2.16	0.27623	.	.	.	.	.	T	0.34890	0.0913	N	0.08118	0	0.24976	N	0.991637	B	0.13594	0.008	B	0.09377	0.004	T	0.27571	-1.0070	9	0.66056	D	0.02	.	7.7704	0.29004	0.0:0.0:1.0:0.0	.	110	Q14896	MYPC3_HUMAN	L	110	ENSP00000442795:P110L;ENSP00000382193:P110L;ENSP00000256993:P110L	ENSP00000256993:P110L	P	-	2	0	MYBPC3	47328706	0.590000	0.26815	0.347000	0.25668	0.645000	0.38454	1.834000	0.39171	1.229000	0.43630	0.462000	0.41574	CCT		0.672	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			A	47372130	G	A	47372130	3	1	306	1	0	0	0	0	1	0	0	0	10015	1000	35	2	3616	2	MYBPC3	11	47372130	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	599225	47372130	87634386	61	18264											
CELF1	10658	hgsc.bcm.edu	37	11	47494737	47494737	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr11:47494737A>C	ENST00000358597.3	-	11	1235	c.1236T>G	c.(1234-1236)ttT>ttG	p.F412L	CELF1_ENST00000310513.5_Missense_Mutation_p.F408L|CELF1_ENST00000361904.3_Missense_Mutation_p.F409L|CELF1_ENST00000532048.1_Missense_Mutation_p.F438L|CELF1_ENST00000531165.1_Missense_Mutation_p.F440L|CELF1_ENST00000395292.2_Missense_Mutation_p.F409L|CELF1_ENST00000395290.2_Missense_Mutation_p.F411L|CELF1_ENST00000539455.1_5'UTR			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	412	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CCTGATCACCAAACTCCTGGG	0.488																																					Pancreas(163;1949 1966 9906 43218 43785)											0													108	95	100					11																	47494737		2201	4298	6499	SO:0001583	missense	10658			U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	2549	protein-coding gene	gene with protein product	"CUG RNA-binding protein", "nuclear polyadenylated RNA-binding protein, 50-kD", "bruno-like 2", "embryo deadenylation element binding protein"	601074	"CUG triplet repeat, RNA-binding protein 1", "CUG triplet repeat, RNA binding protein 1"	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1236T>G	chr11.hg19:g.47494737A>C	ENSP00000351409:p.Phe412Leu		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	hg19	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.793578	0.70452	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51	6.07	3.79	0.43588	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.096317	0.64402	D	0.000001	T	0.19248	0.0462	N	0.25957	0.775	0.80722	D	1	B;B;D;B;B;D	0.54601	0.004;0.004;0.967;0.082;0.004;0.964	B;B;P;B;B;P	0.61940	0.004;0.004;0.896;0.261;0.004;0.88	T	0.01242	-1.1408	10	0.49607	T	0.09	-11.2757	8.6583	0.34077	0.7964:0.0:0.2036:0.0	.	411;440;438;408;409;412	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	L	411;412;409;408;409;440;438	ENSP00000378705:F411L;ENSP00000351409:F412L;ENSP00000378706:F409L;ENSP00000308386:F408L;ENSP00000354639:F409L;ENSP00000436864:F440L;ENSP00000435926:F438L	ENSP00000308386:F408L	F	-	3	2	CELF1	47451313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.627000	0.37050	0.550000	0.28991	0.533000	0.62120	TTT		0.488	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		C	47494737	A	C	47494737	3	2	306	1	0	0	0	0	1	0	0	0	3217	127	5	5	232	5	CELF1	11	47494737	Missense_Mutation	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	122607	47494737	87511779	62	18265											
OR10S1	219873	hgsc.bcm.edu	37	11	123847533	123847533	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr11:123847533A>T	ENST00000531945.1	-	1	955	c.866T>A	c.(865-867)tTc>tAc	p.F289Y		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GATTGTGTAGAAGACAGCAGG	0.547																																																0													89	93	91					11																	123847533		2202	4299	6501	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.866T>A	chr11.hg19:g.123847533A>T	ENSP00000431914:p.Phe289Tyr		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	hg19	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222817	0.58668	.	.	ENSG00000196248	ENST00000531945	T	0.00224	8.51	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36972	U	0.002306	T	0.00695	0.0023	H	0.95504	3.68	0.25935	N	0.98295	D	0.63880	0.993	P	0.60012	0.867	T	0.14309	-1.0477	10	0.87932	D	0	-26.4199	10.2325	0.43264	0.8516:0.0:0.0:0.1484	.	289	Q8NGN2	O10S1_HUMAN	Y	289	ENSP00000431914:F289Y	ENSP00000431914:F289Y	F	-	2	0	OR10S1	123352743	0.027000	0.19231	1.000000	0.80357	0.619000	0.37552	2.258000	0.43249	2.039000	0.60335	0.533000	0.62120	TTC		0.547	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		T	123847533	A	T	123847533	3	4	306	1	0	0	0	0	1	0	0	0	10920	246	9	5	133	5	OR10S1	11	123847533	Missense_Mutation	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	76352796	123847533	11158983	63	18266											
CLECL1	160365	hgsc.bcm.edu	37	12	9875396	9875396	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr12:9875396A>C	ENST00000327839.3	-	2	364	c.330T>G	c.(328-330)ttT>ttG	p.F110L		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						GGACAGTAGAAAAGTTGAAAG	0.328																																																0													56	52	53					12																	9875396		2203	4299	6502	SO:0001583	missense	160365			AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"dendritic cell associated lectin 1"	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.330T>G	chr12.hg19:g.9875396A>C	ENSP00000331766:p.Phe110Leu			Missense_Mutation	SNP	ENST00000327839.3	hg19	CCDS8603.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.681|3.681	-0.065539|-0.065539	0.07273|0.07273	.|.	.|.	ENSG00000184293|ENSG00000184293	ENST00000542530|ENST00000327839	T|T	0.16597|0.15139	2.33|2.45	2.49|2.49	2.49|2.49	0.30216|0.30216	.|.	.|.	.|.	.|.	.|.	T|T	0.11153|0.11153	0.0272|0.0272	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.21452	.|0.056	.|B	.|0.17979	.|0.02	T|T	0.26155|0.26155	-1.0111|-1.0111	6|8	.|.	.|.	.|.	.|.	6.8863|6.8863	0.24202|0.24202	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|110	.|Q8IZS7	.|CLCL1_HUMAN	C|L	62|110	ENSP00000438981:F62C|ENSP00000331766:F110L	.|.	F|F	-|-	2|3	0|2	CLECL1|CLECL1	9766663|9766663	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	0.889000|0.889000	0.28282|0.28282	1.389000|1.389000	0.46526|0.46526	0.486000|0.486000	0.48141|0.48141	TTT|TTT		0.328	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004		C	9875396	A	C	9875396	3	2	306	1	0	0	0	0	1	0	0	0	3525	11	1	5	177	5	CLECL1	12	9875396	Missense_Mutation	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10		9875396	123976499	64	18267											
OVCH1	341350	hgsc.bcm.edu	37	12	29639178	29639178	+	Splice_Site	SNP	C	C	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr12:29639178C>A	ENST00000318184.5	-	8	995		c.e8+1		OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.?(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TAGAACCACACATACCCTTTC	0.428																																																1	Unknown(1)	lung(1)											93	88	89					12																	29639178		1849	4098	5947	SO:0001630	splice_region_variant	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.995+1G>T	chr12.hg19:g.29639178C>A				Splice_Site	SNP	ENST00000318184.5	hg19		.	.	.	.	.	.	.	.	.	.	C	3.919	-0.018587	0.07681	.	.	ENSG00000187950	ENST00000318184	.	.	.	1.94	1.02	0.19986	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.999927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2497	0.10689	0.0:0.7911:0.0:0.2089	.	.	.	.	.	-1	.	.	.	-	.	.	OVCH1	29530445	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.230000	0.17852	0.359000	0.24239	0.563000	0.77884	.		0.428	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	Intron	A	29639178	C	A	29639178	5	1	306	1	0	0	0	0	0	0	1	0	11325	492	17	4	2492	4	OVCH1	12	29639178	Splice_Site	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	19763782	29639178	104212717	65	18268											
IPO8	10526	hgsc.bcm.edu	37	12	30834737	30834737	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr12:30834737A>G	ENST00000256079.4	-	4	676	c.338T>C	c.(337-339)aTg>aCg	p.M113T		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	113					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACGGAGACACATTGTTAATTG	0.373																																																0													68	65	66					12																	30834737		2201	4300	6501	SO:0001583	missense	10526			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.338T>C	chr12.hg19:g.30834737A>G	ENSP00000256079:p.Met113Thr		B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	hg19	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	A	5.572	0.290340	0.10567	.	.	ENSG00000133704	ENST00000256079;ENST00000535989	T;T	0.65732	-0.17;-0.17	5.13	5.13	0.70059	Armadillo-like helical (1);Armadillo-type fold (1);	0.161352	0.56097	D	0.000023	T	0.44414	0.1292	N	0.13043	0.29	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33803	-0.9854	10	0.17832	T	0.49	-28.9758	15.0801	0.72108	1.0:0.0:0.0:0.0	.	113	O15397	IPO8_HUMAN	T	113;51	ENSP00000256079:M113T;ENSP00000440979:M51T	ENSP00000256079:M113T	M	-	2	0	IPO8	30726004	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.504000	0.53347	2.157000	0.67596	0.482000	0.46254	ATG		0.373	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		G	30834737	A	G	30834737	3	3	306	1	0	0	0	0	1	0	0	0	7800	217	8	3	2863	3	IPO8	12	30834737	Missense_Mutation	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	1195559	30834737	103017158	66	18269											
NXPH4	11247	hgsc.bcm.edu	37	12	57619121	57619121	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr12:57619121C>A	ENST00000349394.5	+	2	693	c.518C>A	c.(517-519)cCc>cAc	p.P173H	NXPH4_ENST00000555154.1_3'UTR|Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	173	IV (linker domain).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCCTGTCCCCCACCCTCTG	0.716																																																0													53	59	57					12																	57619121		2203	4300	6503	SO:0001583	missense	11247			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.518C>A	chr12.hg19:g.57619121C>A	ENSP00000333593:p.Pro173His		A8K4I4|Q7Z6L3|Q8N462	Missense_Mutation	SNP	ENST00000349394.5	hg19	CCDS8933.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857001	0.32791	.	.	ENSG00000182379	ENST00000349394	.	.	.	4.27	4.27	0.50696	.	0.218561	0.23194	N	0.050870	T	0.14657	0.0354	N	0.08118	0	0.23449	N	0.997656	P	0.40000	0.698	B	0.37091	0.241	T	0.07868	-1.0750	9	0.49607	T	0.09	-11.004	7.9642	0.30089	0.0:0.8893:0.0:0.1107	.	173	O95158	NXPH4_HUMAN	H	173	.	ENSP00000333593:P173H	P	+	2	0	NXPH4	55905388	0.851000	0.29673	0.999000	0.59377	0.608000	0.37181	1.983000	0.40648	2.211000	0.71520	0.462000	0.41574	CCC		0.716	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		A	57619121	C	A	57619121	3	1	306	1	0	0	0	0	1	0	0	0	10795	623	22	4	524	4	NXPH4	12	57619121	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	26784384	57619121	76232774	67	18270											
SLITRK1	114798	hgsc.bcm.edu	37	13	84453695	84453695	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr13:84453695T>G	ENST00000377084.2	-	1	2833	c.1948A>C	c.(1948-1950)Aag>Cag	p.K650Q		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	650					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)		TCTCGTCTCTTGGACCGCTTT	0.567																																																0													82	69	74					13																	84453695		2203	4300	6503	SO:0001583	missense	114798			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.1948A>C	chr13.hg19:g.84453695T>G	ENSP00000366288:p.Lys650Gln		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	hg19	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363605	0.41902	.	.	ENSG00000178235	ENST00000377084	T	0.56776	0.44	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	N	0.08118	0	0.54753	D	0.99998	B	0.21520	0.057	B	0.27715	0.082	T	0.15235	-1.0444	10	0.09843	T	0.71	-15.9777	13.9372	0.64032	0.0:0.0:0.0:1.0	.	650	Q96PX8	SLIK1_HUMAN	Q	650	ENSP00000366288:K650Q	ENSP00000366288:K650Q	K	-	1	0	SLITRK1	83351696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.085000	0.71343	2.225000	0.72522	0.533000	0.62120	AAG		0.567	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		G	84453695	T	G	84453695	3	3	306	1	0	0	0	0	1	0	0	0	14748	1821	63	5	146	5	SLITRK1	13	84453695	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10		84453695	30716183	68	18271											
EAPP	55837	hgsc.bcm.edu	37	14	35002688	35002688	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr14:35002688A>G	ENST00000250454.3	-	3	395	c.314T>C	c.(313-315)aTa>aCa	p.I105T		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	105					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		ATCAAAATATATATCATCGTA	0.338																																																0													139	129	132					14																	35002688		1853	4090	5943	SO:0001583	missense	55837			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"chromosome 14 open reading frame 11"	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.314T>C	chr14.hg19:g.35002688A>G	ENSP00000250454:p.Ile105Thr		Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	hg19	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015726	0.54468	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	T;T	0.46063	0.89;0.88	5.54	5.54	0.83059	.	0.316524	0.38663	N	0.001606	T	0.44993	0.1320	M	0.70275	2.135	0.46203	D	0.998921	P	0.36753	0.568	B	0.34991	0.193	T	0.48422	-0.9037	10	0.49607	T	0.09	-4.4801	15.9956	0.80237	1.0:0.0:0.0:0.0	.	105	Q56P03	EAPP_HUMAN	T	105;84	ENSP00000250454:I105T;ENSP00000450908:I84T	ENSP00000250454:I105T	I	-	2	0	EAPP	34072439	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	5.183000	0.65065	2.248000	0.74166	0.533000	0.62120	ATA		0.338	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		G	35002688	A	G	35002688	3	3	306	1	0	0	0	0	1	0	0	0	4879	449	16	3	559	3	EAPP	14	35002688	Missense_Mutation	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10		35002688	72346852	69	18272											
STYX	6815	hgsc.bcm.edu	37	14	53224474	53224474	+	Silent	SNP	G	G	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr14:53224474G>C	ENST00000354586.4	+	7	647	c.354G>C	c.(352-354)gtG>gtC	p.V118V	STYX_ENST00000442123.2_Silent_p.V118V|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	118	Tyrosine-protein phosphatase.				MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AAGTTCTTGTGCATGGAAATG	0.313																																																0													70	75	73					14																	53224474		2203	4295	6498	SO:0001819	synonymous_variant	6815				CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	11447	protein-coding gene	gene with protein product		615814	"serine/threonine/tyrosine-interacting protein"			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.354G>C	chr14.hg19:g.53224474G>C			B9EJG0|Q99850	Silent	SNP	ENST00000354586.4	hg19	CCDS9711.1																																																																																				0.313	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251		C	53224474	G	C	53224474	2	2	306	1	0	0	0	0	0	0	0	1	15365	1306	46	4		4	STYX	14	53224474	Silent	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	18221786	53224474	54125066	70	18273											
SERPINA12	145264	hgsc.bcm.edu	37	14	94956103	94956103	+	Splice_Site	SNP	C	C	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr14:94956103C>G	ENST00000341228.2	-	5	1702	c.907G>C	c.(907-909)Gtc>Ctc	p.V303L	SERPINA12_ENST00000556881.1_Splice_Site_p.V303L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	303					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		ACGTCTACGACCCTGGGGAAT	0.522																																																0													115	91	99					14																	94956103		2203	4300	6503	SO:0001630	splice_region_variant	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.906-1G>C	chr14.hg19:g.94956103C>G				Missense_Mutation	SNP	ENST00000341228.2	hg19	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	6.845	0.525180	0.13066	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84070	-1.8;-1.8	5.14	2.95	0.34219	Serpin domain (3);	0.253832	0.27759	N	0.017975	T	0.64724	0.2624	N	0.16066	0.365	0.09310	N	0.999995	B	0.11235	0.004	B	0.04013	0.001	T	0.49428	-0.8941	10	0.26408	T	0.33	.	5.9952	0.19489	0.4795:0.4268:0.0:0.0937	.	303	Q8IW75	SPA12_HUMAN	L	303	ENSP00000451738:V303L;ENSP00000342109:V303L	ENSP00000342109:V303L	V	-	1	0	SERPINA12	94025856	0.000000	0.05858	0.980000	0.43619	0.176000	0.22953	0.069000	0.14552	1.251000	0.43983	0.462000	0.41574	GTC		0.522	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	Missense_Mutation	G	94956103	C	G	94956103	5	3	306	1	0	0	0	0	0	0	1	0	14095	521	18	4	345	4	SERPINA12	14	94956103	Splice_Site	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	41731629	94956103	12393437	71	18274											
GCNT3	9245	hgsc.bcm.edu	37	15	59911624	59911624	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr15:59911624G>A	ENST00000396065.1	+	3	1635	c.1187G>A	c.(1186-1188)gGg>gAg	p.G396E	GCNT3_ENST00000560585.1_Missense_Mutation_p.G396E	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	396					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATGGGGCTGGGGACTTGAAT	0.498																																																0													143	138	139					15																	59911624		2190	4290	6480	SO:0001583	missense	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1187G>A	chr15.hg19:g.59911624G>A	ENSP00000379377:p.Gly396Glu			Missense_Mutation	SNP	ENST00000396065.1	hg19	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866696	0.51588	.	.	ENSG00000140297	ENST00000396065	T	0.08370	3.1	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27502	-1.0072	10	0.21540	T	0.41	.	18.8129	0.92065	0.0:0.0:1.0:0.0	.	396	O95395	GCNT3_HUMAN	E	396	ENSP00000379377:G396E	ENSP00000379377:G396E	G	+	2	0	GCNT3	57698916	1.000000	0.71417	0.975000	0.42487	0.267000	0.26476	6.753000	0.74904	2.437000	0.82529	0.655000	0.94253	GGG		0.498	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		A	59911624	G	A	59911624	3	1	306	1	0	0	0	0	1	0	0	0	6304	1232	43	2	1189	2	GCNT3	15	59911624	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10		59911624	42619768	72	18275											
ALDH1A3	220	hgsc.bcm.edu	37	15	101438391	101438391	+	Splice_Site	SNP	G	G	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr15:101438391G>C	ENST00000329841.5	+	8	1415		c.e8+1		RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Splice_Site	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3						embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	GACGCTGACTGTGAGTCTCTG	0.572																																																0													51	50	51					15																	101438391		2203	4300	6503	SO:0001630	splice_region_variant	220			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.883+1G>C	chr15.hg19:g.101438391G>C			Q6NT64	Splice_Site	SNP	ENST00000329841.5	hg19	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101857	0.37048	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4533	0.94876	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALDH1A3	99255914	1.000000	0.71417	0.967000	0.41034	0.080000	0.17528	9.338000	0.96553	2.604000	0.88044	0.555000	0.69702	.		0.572	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2		Intron	C	101438391	G	C	101438391	5	2	306	1	0	0	0	0	0	0	1	0	492	1391	48	4	914	4	ALDH1A3	15	101438391	Splice_Site	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	41526767	101438391	1093001	73	18276											
CLN3	1201	hgsc.bcm.edu	37	16	28495396	28495396	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr16:28495396C>A	ENST00000569430.1	-	11	1540	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W	CLN3_ENST00000568224.1_Missense_Mutation_p.G163W|CLN3_ENST00000333496.9_Missense_Mutation_p.G217W|CLN3_ENST00000395653.4_Missense_Mutation_p.G141W|CLN3_ENST00000354630.5_Missense_Mutation_p.G241W|CLN3_ENST00000565316.1_Missense_Mutation_p.G241W|CLN3_ENST00000535392.1_Missense_Mutation_p.G163W|CLN3_ENST00000359984.7_Missense_Mutation_p.G241W|CLN3_ENST00000357857.9_Missense_Mutation_p.G187W|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000357806.7_Missense_Mutation_p.G142W|CLN3_ENST00000360019.2_Missense_Mutation_p.G241W|CLN3_ENST00000355477.5_Missense_Mutation_p.G193W|CLN3_ENST00000567963.1_Missense_Mutation_p.G241W			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	241					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCTTCTTCCCCTCCAGGGTCC	0.592																																																0													44	42	42					16																	28495396		2197	4300	6497	SO:0001583	missense	1201			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.721G>T	chr16.hg19:g.28495396C>A	ENSP00000454229:p.Gly241Trp		B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	hg19	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733284	0.69189	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000333496;ENST00000395653;ENST00000357806	D;D;D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	5.28	1.8	0.24995	Major facilitator superfamily domain, general substrate transporter (1);	0.386796	0.29212	N	0.012803	D	0.97222	0.9092	M	0.76838	2.35	0.58432	D	0.999991	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.98;0.99;0.995;0.998;0.999;0.998;0.992;0.998;0.98;0.99;0.991;1.0	D;P;P;P;D;D;D;P;P;P;P;P;D	0.77557	0.975;0.796;0.708;0.839;0.954;0.98;0.964;0.792;0.907;0.796;0.694;0.855;0.99	D	0.96088	0.9059	10	0.87932	D	0	-3.7144	7.6992	0.28613	0.0:0.6916:0.0:0.3083	.	141;217;241;241;292;88;118;139;141;187;193;241;142	B4DFT5;B4DXL3;Q13286-3;Q13286-4;B4DIA8;O95093;O95090;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;.;.;.;.;.;CLN3_HUMAN;.	W	163;241;241;241;193;187;118;141;142	ENSP00000443221:G163W;ENSP00000353073:G241W;ENSP00000353116:G241W;ENSP00000346650:G241W;ENSP00000347660:G193W;ENSP00000350523:G187W;ENSP00000379014:G141W;ENSP00000350457:G142W	ENSP00000329171:G118W	G	-	1	0	CLN3	28402897	0.974000	0.33945	0.993000	0.49108	0.918000	0.54935	0.778000	0.26732	0.626000	0.30322	0.556000	0.70494	GGG		0.592	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			A	28495396	C	A	28495396	3	1	306	1	0	0	0	0	1	0	0	0	3545	681	24	4	623	4	CLN3	16	28495396	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10		28495396	61859357	74	18277											
SHPK	23729	hgsc.bcm.edu	37	17	3539502	3539525	+	Start_Codon_Del	DEL	CCGCGCAGCCATTATCTCCCTGAC	CCGCGCAGCCATTATCTCCCTGAC	-	rs190457036|rs367944958|rs201343679	byFrequency	TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	CCGCGCAGCCATTATCTCCCTGAC	CCGCGCAGCCATTATCTCCCTGAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr17:3539502_3539525delCCGCGCAGCCATTATCTCCCTGAC	ENST00000225519.3	-	0	91_114				CTNS_ENST00000399306.2_5'Flank|CTNS_ENST00000046640.3_5'Flank|CTNS_ENST00000381870.3_5'Flank|CTNS_ENST00000414524.2_5'Flank|CTNS_ENST00000441220.2_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase						carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)	p.A2V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GGGTGATCGGCCGCGCAGCCATTATCTCCCTGACCCGCGCAGCT	0.692																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001582	initiator_codon_variant	23729			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694		chr17.hg19:g.3539502_3539525delCCGCGCAGCCATTATCTCCCTGAC			B2R640|Q8WUH3	Frame_Shift_Del	DEL	ENST00000225519.3	hg19	CCDS11030.1																																																																																				0.692	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			-	3539525	CCGCGCAGCCATTATCTCCCTGAC	-	3539502	7	5	306	1	0	1	0	1	0	0	0	0	14296	726	26	0	1452	0	SHPK	17	3539502	Start_Codon_Del	DEL	CCGCGCAGCCATTATCTCCCTGAC	TCGA-B9-A8YH-01A-11D-A36X-10		3539502	77655708	75	18278											
DERL2	51009	hgsc.bcm.edu	37	17	5389469	5389469	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr17:5389469T>C	ENST00000158771.4	-	1	68	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	MIS12_ENST00000381165.3_5'Flank|DERL2_ENST00000570848.1_Missense_Mutation_p.S5G|DERL2_ENST00000572834.1_Missense_Mutation_p.S5G|DERL2_ENST00000571968.1_Intron|MIS12_ENST00000573759.1_5'Flank	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	5					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						AGCCGCAAGCTCTGGTACGCC	0.721																																																0													31	26	28					17																	5389469		2196	4291	6487	SO:0001583	missense	51009			BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"Der1-like domain family, member 2"			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.13A>G	chr17.hg19:g.5389469T>C	ENSP00000158771:p.Ser5Gly		Q9Y3A7	Missense_Mutation	SNP	ENST00000158771.4	hg19	CCDS11073.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.280895	0.59758	.	.	ENSG00000072849	ENST00000158771	T	0.23348	1.91	6.17	6.17	0.99709	.	0.047139	0.85682	D	0.000000	T	0.17066	0.0410	N	0.16708	0.43	0.48452	D	0.999658	B	0.02656	0.0	B	0.01281	0.0	T	0.11690	-1.0577	10	0.13853	T	0.58	-0.348	16.0034	0.80327	0.0:0.0:0.0:1.0	.	5	Q9GZP9	DERL2_HUMAN	G	5	ENSP00000158771:S5G	ENSP00000158771:S5G	S	-	1	0	DERL2	5330193	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.541000	0.60670	2.371000	0.80710	0.533000	0.62120	AGC		0.721	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1	NM_016041		C	5389469	T	C	5389469	3	2	306	1	0	0	0	0	1	0	0	0	4449	1551	54	3	734	3	DERL2	17	5389469	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	1849967	5389469	75805741	76	18279											
EVPLL	645027	hgsc.bcm.edu	37	17	18286356	18286356	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr17:18286356C>T	ENST00000399134.4	+	7	887	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	177										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGTCGTGGCGCGGGCAGAGCC	0.706																																																0													5	8	7					17																	18286356		666	1537	2203	SO:0001583	missense	645027				CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.529C>T	chr17.hg19:g.18286356C>T	ENSP00000382086:p.Arg177Trp		B4DPD4	Missense_Mutation	SNP	ENST00000399134.4	hg19	CCDS45626.1	.	.	.	.	.	.	.	.	.	.	.	14.63	2.591371	0.46214	.	.	ENSG00000214860	ENST00000399134	T	0.26373	1.74	0.505	0.505	0.16953	.	.	.	.	.	T	0.13200	0.0320	N	0.19112	0.55	0.24914	N	0.992025	D	0.67145	0.996	B	0.40982	0.345	T	0.17167	-1.0378	9	0.66056	D	0.02	.	3.564	0.07893	0.4389:0.561:1.0E-4:1.0E-4	.	177	A8MZ36	EVPLL_HUMAN	W	177	ENSP00000382086:R177W	ENSP00000382086:R177W	R	+	1	2	EVPLL	18227081	0.868000	0.29978	0.989000	0.46669	0.453000	0.32348	-0.765000	0.04730	0.554000	0.29061	0.089000	0.15464	CGG		0.706	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		T	18286356	C	T	18286356	3	4	306	1	0	0	0	0	1	0	0	0	5295	759	27	1	551	1	EVPLL	17	18286356	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	12896887	18286356	62908854	77	18280											
CRYBA1	1411	hgsc.bcm.edu	37	17	27580671	27580672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr17:27580671_27580672insT	ENST00000225387.3	+	5	372_373	c.371_372insT	c.(370-375)tctaagfs	p.K125fs		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	125	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CATAAGGAGTCTAAGATGACCA	0.386																																																0																																										SO:0001589	frameshift_variant	1411				CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"eye lens structural protein"	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.372dupT	chr17.hg19:g.27580672_27580672dupT	ENSP00000225387:p.Lys125fs		Q13633|Q14CM9	Frame_Shift_Ins	INS	ENST00000225387.3	hg19	CCDS11249.1																																																																																				0.386	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256071.2	NM_005208		T	27580672	-	T	27580671	7	5	306	1	0	1	1	0	0	0	0	0	3909	913	32	0	389	0	CRYBA1	17	27580671	Frame_Shift_Ins	INS	-	TCGA-B9-A8YH-01A-11D-A36X-10	9294315	27580671	53614539	78	18281											
SLFN11	91607	hgsc.bcm.edu	37	17	33679953	33679953	+	Silent	SNP	A	A	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr17:33679953A>G	ENST00000394566.1	-	7	2400	c.2128T>C	c.(2128-2130)Ttg>Ctg	p.L710L	SLFN11_ENST00000308377.4_Silent_p.L710L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	710					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCAATCCAAGTGGCTGGTC	0.483																																																0													115	120	118					17																	33679953		2203	4300	6503	SO:0001819	synonymous_variant	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2128T>C	chr17.hg19:g.33679953A>G			E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	hg19	CCDS11294.1																																																																																				0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		G	33679953	A	G	33679953	2	3	306	1	0	0	0	0	0	0	0	1	14739	69	3	3		3	SLFN11	17	33679953	Silent	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	6099282	33679953	47515257	79	18282											
TNS4	84951	hgsc.bcm.edu	37	17	38634839	38634839	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr17:38634839G>A	ENST00000254051.6	-	11	2130	c.1972C>T	c.(1972-1974)Caa>Taa	p.Q658*		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	658	Phosphatase tensin-type.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TACTTCCGTTGCTCAGGGTCC	0.622																																																0													102	87	92					17																	38634839		2203	4300	6503	SO:0001587	stop_gained	84951			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1972C>T	chr17.hg19:g.38634839G>A	ENSP00000254051:p.Gln658*		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Nonsense_Mutation	SNP	ENST00000254051.6	hg19	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	G	39	7.830813	0.98513	.	.	ENSG00000131746	ENST00000377816;ENST00000394072;ENST00000254051	.	.	.	5.0	4.02	0.46733	.	0.000000	0.39475	N	0.001345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.8218	7.5698	0.27900	0.0869:0.0:0.7019:0.2112	.	.	.	.	X	658;71;658	.	ENSP00000254051:Q658X	Q	-	1	0	TNS4	35888365	0.997000	0.39634	1.000000	0.80357	0.978000	0.69477	1.654000	0.37334	2.326000	0.78906	0.462000	0.41574	CAA		0.622	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		A	38634839	G	A	38634839	4	1	306	1	0	0	0	0	0	1	0	0	16350	1328	46	2	187	2	TNS4	17	38634839	Nonsense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	4954886	38634839	42560371	80	18283											
KRTAP4-5	85289	hgsc.bcm.edu	37	17	39305773	39305775	+	Missense_Mutation	TNP	TCT	TCT	GGC	rs137947981|rs141265645|rs201152898|rs535144703|rs58117746	byFrequency	TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T|C|T	T|C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr17:39305773_39305775TCT>GGC	ENST00000343246.4	-	1	279_281	c.245_247AGA>GCC	c.(244-249)cAGAcc>cGCCcc	p.82_83QT>RP		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	82	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.Q82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cagcaggtggtctggcagcagca	0.655																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	85289			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.245_247AGA>GCC	chr17.hg19:g.39305773TCT>GGC	ENSP00000340546:p.Q82_T83delinsRP			Missense_Mutation	SNP	ENST00000343246.4	hg19	CCDS32650.1																																																																																				0.655	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			GGC	39305775	TCT	GGC	39305773	3	3	306	1	0	0	0	0	1	0	0	0	8556	1667	58	5	302	5	KRTAP4-5	17	39305773	Missense_Mutation	TNP	TCT	TCGA-B9-A8YH-01A-11D-A36X-10	670934	39305773	41889437	81	18284											
CHAD	1101	hgsc.bcm.edu	37	17	48545565	48545565	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr17:48545565T>C	ENST00000508540.1	-	1	762	c.610A>G	c.(610-612)Agg>Ggg	p.R204G	ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000541920.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R204G|ACSF2_ENST00000427954.2_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	204					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCTGGTTCCTGTCCACGTGG	0.622																																																0													89	92	91					17																	48545565		2203	4300	6503	SO:0001583	missense	1101			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.610A>G	chr17.hg19:g.48545565T>C	ENSP00000423812:p.Arg204Gly		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	hg19	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	T	9.910	1.209334	0.22205	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.57107	0.42;0.42	4.59	2.26	0.28386	.	0.483431	0.24328	N	0.039484	T	0.22666	0.0547	N	0.03281	-0.365	0.27249	N	0.958952	B	0.02656	0.0	B	0.01281	0.0	T	0.18241	-1.0343	10	0.14252	T	0.57	.	6.2292	0.20726	0.0:0.0792:0.3141:0.6067	.	204	O15335	CHAD_HUMAN	G	204	ENSP00000423812:R204G;ENSP00000258969:R204G	ENSP00000258969:R204G	R	-	1	2	CHAD	45900564	0.939000	0.31865	0.994000	0.49952	0.979000	0.70002	0.446000	0.21694	0.242000	0.21303	0.460000	0.39030	AGG		0.622	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		C	48545565	T	C	48545565	3	2	306	1	0	0	0	0	1	0	0	0	3312	1579	55	3	481	3	CHAD	17	48545565	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	9239792	48545565	32649645	82	18285											
CARD14	79092	hgsc.bcm.edu	37	17	78178935	78178935	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr17:78178935C>A	ENST00000573882.1	+	20	3036	c.2500C>A	c.(2500-2502)Ccc>Acc	p.P834T	CARD14_ENST00000344227.2_Missense_Mutation_p.P834T|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	834	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTCCTCGTGCCCAGGGCGGT	0.652																																																0													75	72	73					17																	78178935		2203	4300	6503	SO:0001583	missense	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2500C>A	chr17.hg19:g.78178935C>A	ENSP00000458715:p.Pro834Thr		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	hg19	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986821	0.74589	.	.	ENSG00000141527	ENST00000344227	T	0.06371	3.31	4.13	4.13	0.48395	Guanylate kinase/L-type calcium channel (1);	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02345	-1.1173	10	0.54805	T	0.06	-27.3668	13.8635	0.63574	0.0:1.0:0.0:0.0	.	834	Q9BXL6	CAR14_HUMAN	T	834	ENSP00000344549:P834T	ENSP00000344549:P834T	P	+	1	0	CARD14	75793530	1.000000	0.71417	0.990000	0.47175	0.847000	0.48162	6.111000	0.71541	1.861000	0.53984	0.491000	0.48974	CCC		0.652	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			A	78178935	C	A	78178935	3	1	306	1	0	0	0	0	1	0	0	0	2648	739	26	4	2731	4	CARD14	17	78178935	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	29633370	78178935	3016275	83	18286											
CEP192	55125	hgsc.bcm.edu	37	18	13105009	13105009	+	Silent	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr18:13105009T>C	ENST00000325971.8	+	38	6783	c.5190T>C	c.(5188-5190)ttT>ttC	p.F1730F	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Silent_p.F1851F|CEP192_ENST00000506447.1_Silent_p.F2326F			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1730					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGATGTTTTTAGAGCTACCT	0.373																																																0													232	218	223					18																	13105009		2203	4300	6503	SO:0001819	synonymous_variant	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5190T>C	chr18.hg19:g.13105009T>C			A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	hg19																																																																																					0.373	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		C	13105009	T	C	13105009	2	2	306	1	0	0	0	0	0	0	0	1	3253	1751	61	3		3	CEP192	18	13105009	Silent	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10		13105009	64972239	84	18287											
KIAA1632	57724	hgsc.bcm.edu	37	18	43481032	43481032	+	Silent	SNP	A	A	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr18:43481032A>C	ENST00000282041.5	-	26	4609	c.4575T>G	c.(4573-4575)gcT>gcG	p.A1525A	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1525					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCAATAGCACAGCAGAGGAAA	0.542																																																0													72	77	75					18																	43481032		2081	4216	6297	SO:0001819	synonymous_variant	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4575T>G	chr18.hg19:g.43481032A>C			A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	hg19	CCDS11926.2																																																																																				0.542	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		C	43481032	A	C	43481032	2	2	306	1	0	0	0	0	0	0	0	1	8251	175	7	5		5	KIAA1632	18	43481032	Silent	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	30376023	43481032	34596216	85	18288											
SLC44A2	57153	hgsc.bcm.edu	37	19	10742023	10742023	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr19:10742023T>G	ENST00000335757.5	+	6	779	c.403T>G	c.(403-405)Tat>Gat	p.Y135D	SLC44A2_ENST00000407327.4_Missense_Mutation_p.Y133D|SLC44A2_ENST00000586078.1_Missense_Mutation_p.Y135D			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	135					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTTTGAGTACTATAAGCAGTT	0.522																																																0													111	114	113					19																	10742023		2203	4300	6503	SO:0001583	missense	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.403T>G	chr19.hg19:g.10742023T>G	ENSP00000336888:p.Tyr135Asp		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	hg19	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019151	0.54576	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.09538	2.97;2.98	4.86	4.86	0.63082	.	0.062114	0.64402	D	0.000003	T	0.19565	0.0470	M	0.87682	2.9	0.51482	D	0.999924	B;B	0.02656	0.0;0.0	B;B	0.12837	0.002;0.008	T	0.02560	-1.1141	10	0.36615	T	0.2	.	13.62	0.62132	0.0:0.0:0.0:1.0	.	135;133	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	D	133;135;135	ENSP00000385135:Y133D;ENSP00000336888:Y135D	ENSP00000336888:Y135D	Y	+	1	0	SLC44A2	10603023	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	7.050000	0.76620	2.064000	0.61679	0.374000	0.22700	TAT		0.522	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			G	10742023	T	G	10742023	3	3	306	1	0	0	0	0	1	0	0	0	14642	1522	53	5	460	5	SLC44A2	19	10742023	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10		10742023	48386960	86	18289											
SCGBL	284402	hgsc.bcm.edu	37	19	35085225	35085226	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr19:35085225_35085226delAC	ENST00000601241.1	-	3	2200_2201	c.100_101delGT	c.(100-102)gttfs	p.V35fs	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Frame_Shift_Del_p.V35fs			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	35						extracellular region (GO:0005576)											ATCAAACACAACATTCGCAAGC	0.505																																																0																																										SO:0001589	frameshift_variant	284402			AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"Secretoglobins"	27616	protein-coding gene	gene with protein product		615063	"secretoglobin-like"	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.100_101delGT	chr19.hg19:g.35085225_35085226delAC	ENSP00000469876:p.Val35fs			Frame_Shift_Del	DEL	ENST00000601241.1	hg19	CCDS32989.1																																																																																				0.505	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591		-	35085226	AC	-	35085225	7	5	306	1	0	1	0	1	0	0	0	0	13908	43	2	0	197	0	SCGBL	19	35085225	Frame_Shift_Del	DEL	AC	TCGA-B9-A8YH-01A-11D-A36X-10	24343202	35085225	24043758	87	18290											
FBL	2091	hgsc.bcm.edu	37	19	40330883	40330883	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr19:40330883A>C	ENST00000221801.3	-	4	481	c.368T>G	c.(367-369)gTc>gGc	p.V123G	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	123					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CGAAATCGAGACTCTCTTCTC	0.557																																																0													97	84	88					19																	40330883		2203	4300	6503	SO:0001583	missense	2091			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.368T>G	chr19.hg19:g.40330883A>C	ENSP00000221801:p.Val123Gly		B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	hg19	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294597	0.81025	.	.	ENSG00000105202	ENST00000221801	.	.	.	5.08	5.08	0.68730	.	0.101737	0.64402	D	0.000005	T	0.74718	0.3753	M	0.72894	2.215	0.80722	D	1	D;P;D	0.62365	0.991;0.923;0.976	P;P;P	0.61722	0.864;0.64;0.893	T	0.78280	-0.2265	9	0.87932	D	0	-25.8191	12.8246	0.57712	1.0:0.0:0.0:0.0	.	123;62;123	B4DLD4;Q96BS4;P22087	.;.;FBRL_HUMAN	G	123	.	ENSP00000221801:V123G	V	-	2	0	FBL	45022723	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.304000	0.89958	1.909000	0.55274	0.418000	0.28097	GTC		0.557	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		C	40330883	A	C	40330883	3	2	306	1	0	0	0	0	1	0	0	0	5698	275	10	5	621	5	FBL	19	40330883	Missense_Mutation	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	5245658	40330883	18798100	88	18291											
IRF2BP1	26145	hgsc.bcm.edu	37	19	46387877	46387878	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr19:46387877_46387878insG	ENST00000302165.3	-	1	1498_1499	c.1155_1156insC	c.(1153-1158)cccgagfs	p.E386fs		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCCTCCGGCTCGGGGGATGCCT	0.738																																																0																																										SO:0001589	frameshift_variant	26145			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1156dupC	chr19.hg19:g.46387882_46387882dupG	ENSP00000307265:p.Glu386fs		Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Frame_Shift_Ins	INS	ENST00000302165.3	hg19	CCDS12678.1																																																																																				0.738	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		G	46387878	-	G	46387877	7	5	306	1	0	1	1	0	0	0	0	0	7831	893	31	0	602	0	IRF2BP1	19	46387877	Frame_Shift_Ins	INS	-	TCGA-B9-A8YH-01A-11D-A36X-10	6056994	46387877	12741106	89	18292											
XRN2	22803	hgsc.bcm.edu	37	20	21321426	21321426	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr20:21321426C>G	ENST00000377191.3	+	15	1441	c.1346C>G	c.(1345-1347)cCa>cGa	p.P449R	XRN2_ENST00000430571.2_Missense_Mutation_p.P373R|XRN2_ENST00000539513.1_Missense_Mutation_p.P395R	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	449					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AGAAATTCACCAGGTTCTCAA	0.383																																																0													114	116	115					20																	21321426		2203	4300	6503	SO:0001583	missense	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1346C>G	chr20.hg19:g.21321426C>G	ENSP00000366396:p.Pro449Arg		Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	hg19	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671790	0.47781	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.72942	-0.7;-0.7;-0.7	4.72	3.71	0.42584	.	0.160480	0.56097	D	0.000025	T	0.71467	0.3343	M	0.74258	2.255	0.58432	D	0.999998	P	0.40578	0.722	B	0.41988	0.372	T	0.73052	-0.4104	10	0.32370	T	0.25	-6.9533	14.7454	0.69488	0.1445:0.8555:0.0:0.0	.	449	Q9H0D6	XRN2_HUMAN	R	449;373;395	ENSP00000366396:P449R;ENSP00000413548:P373R;ENSP00000441113:P395R	ENSP00000366396:P449R	P	+	2	0	XRN2	21269426	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	3.365000	0.52335	2.340000	0.79590	0.460000	0.39030	CCA		0.383	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		G	21321426	C	G	21321426	3	3	306	1	0	0	0	0	1	0	0	0	17465	594	21	4	1404	4	XRN2	20	21321426	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10		21321426	41704094	90	18293											
SFRS6	6431	hgsc.bcm.edu	37	20	42088517	42088517	+	Silent	SNP	C	C	T			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr20:42088517C>T	ENST00000244020.3	+	3	469	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	121	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CTAGTCGGTGCAGTTGGCAAG	0.363																																																0													129	121	124					20																	42088517		2203	4300	6503	SO:0001819	synonymous_variant	6431			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.363C>T	chr20.hg19:g.42088517C>T			B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Silent	SNP	ENST00000244020.3	hg19	CCDS13318.1																																																																																				0.363	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		T	42088517	C	T	42088517	2	4	306	1	0	0	0	0	0	0	0	1	14187	718	25	2		2	SFRS6	20	42088517	Silent	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	20767091	42088517	20937003	91	18294											
CBLN4	140689	hgsc.bcm.edu	37	20	54579177	54579177	+	Silent	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr20:54579177G>A	ENST00000064571.2	-	1	1351	c.51C>T	c.(49-51)gtC>gtT	p.V17V		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	17					protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GCAGCGTGAGGACCAGCAGCA	0.746																																																0													19	17	18					20																	54579177		2196	4292	6488	SO:0001819	synonymous_variant	140689			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"cerebellin precursor-like 1"	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.51C>T	chr20.hg19:g.54579177G>A			A8K0S5	Silent	SNP	ENST00000064571.2	hg19	CCDS13448.1																																																																																				0.746	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		A	54579177	G	A	54579177	2	1	306	1	0	0	0	0	0	0	0	1	2709	1161	41	2		2	CBLN4	20	54579177	Silent	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	12490660	54579177	8446343	92	18295											
CSTF1	1477	hgsc.bcm.edu	37	20	54972276	54972276	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr20:54972276T>G	ENST00000217109.4	+	3	535	c.183T>G	c.(181-183)gaT>gaG	p.D61E	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	61					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TGGAAAACGATGACACCGCAG	0.408																																																0													111	107	108					20																	54972276		2203	4300	6503	SO:0001583	missense	1477				CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.183T>G	chr20.hg19:g.54972276T>G	ENSP00000217109:p.Asp61Glu		Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	hg19	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	T	5.796	0.331191	0.10956	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000428552;ENST00000425890;ENST00000452950	T;T;T	0.55760	0.5;0.52;0.5	6.06	2.6	0.31112	.	0.127094	0.64402	D	0.000001	T	0.22475	0.0542	N	0.03608	-0.345	0.48040	D	0.999574	B	0.12630	0.006	B	0.06405	0.002	T	0.24048	-1.0171	10	0.02654	T	1	5.922	9.8264	0.40914	0.0:0.3244:0.0:0.6756	.	61	Q05048	CSTF1_HUMAN	E	61;61;61;48;61	ENSP00000387968:D61E;ENSP00000217109:D61E;ENSP00000409035:D61E	ENSP00000217109:D61E	D	+	3	2	CSTF1	54405683	0.978000	0.34361	0.433000	0.26760	0.981000	0.71138	0.092000	0.15066	0.182000	0.20032	-0.256000	0.11100	GAT		0.408	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		G	54972276	T	G	54972276	3	3	306	1	0	0	0	0	1	0	0	0	3985	1461	51	5	189	5	CSTF1	20	54972276	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	393099	54972276	8053244	93	18296											
RTEL1	51750	hgsc.bcm.edu	37	20	62322275	62322275	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr20:62322275G>A	ENST00000360203.5	+	27	2856	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R844Q|RTEL1_ENST00000370018.3_Missense_Mutation_p.R844Q|RTEL1_ENST00000370003.1_Missense_Mutation_p.R89Q|RTEL1_ENST00000508582.2_Missense_Mutation_p.R868Q|RTEL1_ENST00000318100.4_Missense_Mutation_p.R844Q					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGCGAACAGCGGGCGGGGAGC	0.682																																																0													15	17	16					20																	62322275		2121	4219	6340	SO:0001583	missense	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2531G>A	chr20.hg19:g.62322275G>A	ENSP00000353332:p.Arg844Gln			Missense_Mutation	SNP	ENST00000360203.5	hg19		.	.	.	.	.	.	.	.	.	.	G	9.354	1.066199	0.20067	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	4.77	-9.54	0.00572	.	2.650120	0.01147	N	0.006331	T	0.02848	0.0085	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.14012	0.009;0.003;0.0;0.001	B;B;B;B	0.06405	0.002;0.001;0.0;0.001	T	0.33137	-0.9880	10	0.14252	T	0.57	-0.0689	6.1268	0.20184	0.4743:0.0:0.3168:0.2089	.	868;89;844;844	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	Q	844;844;868;844;89	ENSP00000359035:R844Q;ENSP00000322287:R844Q;ENSP00000424307:R868Q;ENSP00000353332:R844Q;ENSP00000359020:R89Q	ENSP00000353332:R844Q	R	+	2	0	AL353715.1	61792719	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-1.477000	0.02331	-2.313000	0.00648	-1.008000	0.02478	CGG		0.682	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		A	62322275	G	A	62322275	3	1	306	1	0	0	0	0	1	0	0	0	13726	1116	39	1	2633	1	RTEL1	20	62322275	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	7349999	62322275	703245	94	18297											
PTTG1IP	754	hgsc.bcm.edu	37	21	46285323	46285323	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr21:46285323A>G	ENST00000330938.3	-	2	375	c.155T>C	c.(154-156)cTg>cCg	p.L52P	PTTG1IP_ENST00000445724.2_Missense_Mutation_p.L52P|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Missense_Mutation_p.L52P	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	52	PSI.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		GACGTTCTTCAGGCACTCTTC	0.507																																																0													198	145	163					21																	46285323		2203	4300	6503	SO:0001583	missense	754			AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.155T>C	chr21.hg19:g.46285323A>G	ENSP00000328325:p.Leu52Pro		B2RDP7|D3DSL9|Q9NS09	Missense_Mutation	SNP	ENST00000330938.3	hg19	CCDS13715.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965227	0.74131	.	.	ENSG00000183255	ENST00000397887;ENST00000330938;ENST00000445724	T;T;T	0.69806	-0.43;-0.43;0.8	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	T	0.80507	0.4636	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.958	T	0.83101	-0.0128	10	0.87932	D	0	-45.6165	13.1312	0.59382	1.0:0.0:0.0:0.0	.	52;52	B4DPZ0;P53801	.;PTTG_HUMAN	P	52	ENSP00000380984:L52P;ENSP00000328325:L52P;ENSP00000395374:L52P	ENSP00000328325:L52P	L	-	2	0	PTTG1IP	45109751	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.973000	0.70456	1.735000	0.51646	0.451000	0.29950	CTG		0.507	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			G	46285323	A	G	46285323	3	3	306	1	0	0	0	0	1	0	0	0	12826	188	7	3	407	3	PTTG1IP	21	46285323	Missense_Mutation	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10		46285323	1844572	95	18298											
MICAL3	57553	hgsc.bcm.edu	37	22	18369959	18369959	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr22:18369959T>C	ENST00000441493.2	-	15	2396	c.2044A>G	c.(2044-2046)Aga>Gga	p.R682G	MICAL3_ENST00000207726.7_Missense_Mutation_p.R682G|MICAL3_ENST00000383094.3_Missense_Mutation_p.R682G|MICAL3_ENST00000414725.2_Missense_Mutation_p.R682G|MICAL3_ENST00000429452.1_Missense_Mutation_p.R682G|MICAL3_ENST00000400561.2_Missense_Mutation_p.R682G|MICAL3_ENST00000444520.1_Missense_Mutation_p.R682G|MICAL3_ENST00000585038.1_Missense_Mutation_p.R682G	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	682					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGGTCTTTCTCCTCTTCCCA	0.428																																																0													143	122	129					22																	18369959		1568	3582	5150	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2044A>G	chr22.hg19:g.18369959T>C	ENSP00000416015:p.Arg682Gly		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	hg19	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699631	0.68501	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.69806	-0.19;-0.43;-0.27;-0.27;-0.26;-0.26;-0.26	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.73666	0.3616	M	0.77820	2.39	0.58432	D	0.999998	P;B;B;P;P	0.43633	0.546;0.438;0.38;0.554;0.813	B;B;P;B;B	0.46049	0.156;0.343;0.502;0.322;0.202	T	0.75193	-0.3404	10	0.42905	T	0.14	.	16.3721	0.83368	0.0:0.0:0.0:1.0	.	682;682;682;682;682	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	G	682	ENSP00000416015:R682G;ENSP00000414846:R682G;ENSP00000383406:R682G;ENSP00000410315:R682G;ENSP00000391827:R682G;ENSP00000372574:R682G;ENSP00000207726:R682G	ENSP00000207726:R682G	R	-	1	2	XXbac-B461K10.4;MICAL3	16749959	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.495000	0.66912	2.257000	0.74773	0.533000	0.62120	AGA		0.428	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			C	18369959	T	C	18369959	3	2	306	1	0	0	0	0	1	0	0	0	9573	1559	54	3	4773	3	MICAL3	22	18369959	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10		18369959	32934607	96	18299											
RGL4	266747	hgsc.bcm.edu	37	22	24036113	24036113	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr22:24036113G>C	ENST00000290691.5	+	4	2034	c.864G>C	c.(862-864)agG>agC	p.R288S	RGL4_ENST00000401461.1_Missense_Mutation_p.R152S|KB-1572G7.2_ENST00000421064.1_RNA|AP000347.2_ENST00000417194.1_RNA|GUSBP11_ENST00000455485.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	288	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ACAGCATGAGGGCCCGGGACA	0.592																																																0													83	62	69					22																	24036113		2203	4300	6503	SO:0001583	missense	266747				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.864G>C	chr22.hg19:g.24036113G>C	ENSP00000290691:p.Arg288Ser		Q495L8	Missense_Mutation	SNP	ENST00000290691.5	hg19	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	10.17	1.277356	0.23307	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.27104	1.69;1.69;1.69	2.6	-3.45	0.04781	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.412983	0.19855	N	0.104560	T	0.22360	0.0539	L	0.33668	1.02	0.09310	N	1	P;P;B;P	0.45986	0.87;0.87;0.043;0.87	P;P;B;P	0.54815	0.61;0.61;0.079;0.761	T	0.13019	-1.0525	10	0.36615	T	0.2	.	3.8098	0.08792	0.45:0.0:0.382:0.168	.	152;152;288;288	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	S	152;288;288;288	ENSP00000383951:R152S;ENSP00000290691:R288S;ENSP00000402142:R288S	ENSP00000290691:R288S	R	+	3	2	RGL4	22366113	1.000000	0.71417	0.000000	0.03702	0.025000	0.11179	2.771000	0.47670	-0.757000	0.04697	-0.399000	0.06403	AGG		0.592	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		C	24036113	G	C	24036113	3	2	306	1	0	0	0	0	1	0	0	0	13285	1223	43	4	878	4	RGL4	22	24036113	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	5666154	24036113	27268453	97	18300											
CCDC117	150275	hgsc.bcm.edu	37	22	29182126	29182126	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr22:29182126C>G	ENST00000249064.4	+	5	828	c.652C>G	c.(652-654)Ctt>Gtt	p.L218V	CCDC117_ENST00000448492.2_Missense_Mutation_p.L200V|CCDC117_ENST00000421503.2_Missense_Mutation_p.L143V|CCDC117_ENST00000443309.2_Missense_Mutation_p.L86V	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	218										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CCCTGAACTCCTTTCTGATAA	0.433																																																0													76	75	75					22																	29182126		2203	4300	6503	SO:0001583	missense	150275			AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.652C>G	chr22.hg19:g.29182126C>G	ENSP00000249064:p.Leu218Val		A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	ENST00000249064.4	hg19	CCDS13846.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904080	0.72754	.	.	ENSG00000159873	ENST00000249064;ENST00000448492;ENST00000421503;ENST00000443309	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.94	5.94	0.96194	.	0.072659	0.56097	D	0.000021	T	0.30324	0.0761	L	0.36672	1.1	0.43564	D	0.995887	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.61800	0.894;0.857;0.857	T	0.00455	-1.1729	10	0.72032	D	0.01	.	15.7233	0.77732	0.1369:0.863:0.0:0.0	.	143;200;218	B7Z2V1;B7Z860;Q8IWD4	.;.;CC117_HUMAN	V	218;200;143;86	ENSP00000249064:L218V;ENSP00000389478:L200V;ENSP00000387827:L143V;ENSP00000399363:L86V	ENSP00000249064:L218V	L	+	1	0	CCDC117	27512126	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.531000	0.45650	2.816000	0.96949	0.561000	0.74099	CTT		0.433	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	NM_173510		G	29182126	C	G	29182126	3	3	306	1	0	0	0	0	1	0	0	0	2756	681	24	4	670	4	CCDC117	22	29182126	Missense_Mutation	SNP	C	TCGA-B9-A8YH-01A-11D-A36X-10	5146013	29182126	22122440	98	18301											
TMPRSS6	164656	hgsc.bcm.edu	37	22	37471189	37471189	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr22:37471189T>C	ENST00000346753.3	-	11	1471	c.1355A>G	c.(1354-1356)tAc>tGc	p.Y452C	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.Y443C|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.Y443C|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.Y443C	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	452	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGACTGGTTGTACAAGCCATA	0.662																																																0													56	61	60					22																	37471189		2203	4300	6503	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1355A>G	chr22.hg19:g.37471189T>C	ENSP00000334962:p.Tyr452Cys		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	hg19	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.809609	0.70797	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.92805	-3.11;-3.1;-3.09;-3.11	5.27	5.27	0.74061	CUB (3);	0.067665	0.64402	D	0.000008	D	0.94262	0.8157	M	0.62723	1.935	0.48762	D	0.9997	D;D	0.69078	0.997;0.994	P;P	0.58873	0.847;0.707	D	0.94866	0.8026	10	0.87932	D	0	.	15.1744	0.72899	0.0:0.0:0.0:1.0	.	443;452	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	C	443;452;443;443	ENSP00000371211:Y443C;ENSP00000334962:Y452C;ENSP00000385453:Y443C;ENSP00000384964:Y443C	ENSP00000334962:Y452C	Y	-	2	0	TMPRSS6	35801135	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.548000	0.67255	1.986000	0.57962	0.459000	0.35465	TAC		0.662	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		C	37471189	T	C	37471189	3	2	306	1	0	0	0	0	1	0	0	0	16256	1638	57	3	1112	3	TMPRSS6	22	37471189	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	8289063	37471189	13833377	99	18302											
EP300	2033	hgsc.bcm.edu	37	22	41572322	41572322	+	Silent	SNP	T	T	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chr22:41572322T>C	ENST00000263253.7	+	30	6070	c.4851T>C	c.(4849-4851)ccT>ccC	p.P1617P	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1617	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCCTGATCCTCTCATCCCCT	0.532			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													129	118	122					22																	41572322		2203	4300	6503	SO:0001819	synonymous_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4851T>C	chr22.hg19:g.41572322T>C			B1AKC2	Silent	SNP	ENST00000263253.7	hg19	CCDS14010.1																																																																																				0.532	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		C	41572322	T	C	41572322	2	2	306	1	0	0	0	0	0	0	0	1	5150	1538	54	3		3	EP300	22	41572322	Silent	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	4101133	41572322	9732244	100	18303											
ARSE	415	hgsc.bcm.edu	37	X	2867593	2867593	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chrX:2867593delT	ENST00000381134.3	-	6	672	c.606delA	c.(604-606)caafs	p.Q202fs	ARSE_ENST00000540563.1_Frame_Shift_Del_p.Q157fs|ARSE_ENST00000545496.1_Frame_Shift_Del_p.Q227fs	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	202					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGCCAGGACTTGGAAGAGGA	0.552																																																0													132	109	116					X																	2867593		2203	4300	6503	SO:0001589	frameshift_variant	415			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.606delA	chrX.hg19:g.2867593delT	ENSP00000370526:p.Gln202fs		Q53FT2|Q53FU8	Frame_Shift_Del	DEL	ENST00000381134.3	hg19	CCDS14122.1																																																																																				0.552	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		-	2867593	T	-	2867593	7	5	306	1	0	1	0	1	0	0	0	0	990	1606	56	0	1187	0	ARSE	23	2867593	Frame_Shift_Del	DEL	T	TCGA-B9-A8YH-01A-11D-A36X-10		2867593	152402967	101	18304											
RBM10	8241	hgsc.bcm.edu	37	X	47030585	47030585	+	Missense_Mutation	SNP	T	T	G	rs377667483		TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chrX:47030585T>G	ENST00000377604.3	+	4	1102	c.360T>G	c.(358-360)gaT>gaG	p.D120E	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	120	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggatgaggaggagg	0.667													T|||	2	0.000529801	0.0	0.0	3775	,	,		8316	0.002		0.0	False		,,,				2504	0.0				Melanoma(171;120 2705 19495 39241)											0													20	19	20					X																	47030585		2202	4297	6499	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.360T>G	chrX.hg19:g.47030585T>G	ENSP00000366829:p.Asp120Glu		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	hg19	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	T	1.034	-0.680868	0.03353	.	.	ENSG00000182872	ENST00000377604	T	0.10960	2.82	2.89	-2.28	0.06826	Nucleotide-binding, alpha-beta plait (1);	0.397395	0.18197	N	0.148658	T	0.03783	0.0107	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.49153	-0.8969	10	0.02654	T	1	-3.1034	10.6013	0.45369	0.0:0.0:0.7699:0.2301	.	185;120;120	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	E	120	ENSP00000366829:D120E	ENSP00000366829:D120E	D	+	3	2	RBM10	46915529	0.996000	0.38824	0.881000	0.34555	0.930000	0.56654	-0.096000	0.11059	-0.655000	0.05387	-0.549000	0.04216	GAT		0.667	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		G	47030585	T	G	47030585	3	3	306	1	0	0	0	0	1	0	0	0	13117	1461	51	5	370	5	RBM10	23	47030585	Missense_Mutation	SNP	T	TCGA-B9-A8YH-01A-11D-A36X-10	44162992	47030585	108239975	102	18305											
SHROOM4	57477	hgsc.bcm.edu	37	X	50378467	50378467	+	Silent	SNP	A	A	G			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chrX:50378467A>G	ENST00000289292.7	-	4	889	c.606T>C	c.(604-606)tgT>tgC	p.C202C	SHROOM4_ENST00000376020.2_Silent_p.C202C|SHROOM4_ENST00000460112.3_Silent_p.C86C			Q9ULL8	SHRM4_HUMAN	shroom family member 4	202					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGGAAAGGGCACAGTCAGAAG	0.572																																																0													49	34	39					X																	50378467		2203	4299	6502	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.606T>C	chrX.hg19:g.50378467A>G			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	hg19	CCDS35277.1																																																																																				0.572	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		G	50378467	A	G	50378467	2	3	306	1	0	0	0	0	0	0	0	1	14302	157	6	3		3	SHROOM4	23	50378467	Silent	SNP	A	TCGA-B9-A8YH-01A-11D-A36X-10	3347882	50378467	104892093	103	18306											
CENPI	2491	hgsc.bcm.edu	37	X	100375404	100375404	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chrX:100375404G>C	ENST00000372927.1	+	6	882	c.605G>C	c.(604-606)tGc>tCc	p.C202S	CENPI_ENST00000218507.5_Missense_Mutation_p.C202S|CENPI_ENST00000423383.1_Missense_Mutation_p.C202S|CENPI_ENST00000372926.1_Missense_Mutation_p.C202S	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	202					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CCTTATGTTTGCCATTTGTTA	0.289																																																0													76	66	70					X																	100375404		2197	4291	6488	SO:0001583	missense	2491			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.605G>C	chrX.hg19:g.100375404G>C	ENSP00000362018:p.Cys202Ser		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	hg19	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887294	0.72410	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.78801	2.425	0.58432	D	0.999999	D;D	0.60575	0.988;0.988	P;P	0.61940	0.896;0.896	T	0.77859	-0.2431	9	0.37606	T	0.19	-7.424	18.0793	0.89438	0.0:0.0:1.0:0.0	.	202;202	B4DZL4;Q92674	.;CENPI_HUMAN	S	202	.	ENSP00000218507:C202S	C	+	2	0	CENPI	100262060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.845000	0.75394	2.293000	0.77203	0.590000	0.80494	TGC		0.289	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		C	100375404	G	C	100375404	3	2	306	1	0	0	0	0	1	0	0	0	3235	1319	46	4	623	4	CENPI	23	100375404	Missense_Mutation	SNP	G	TCGA-B9-A8YH-01A-11D-A36X-10	49996937	100375404	54895156	104	18307											
PLXNA3	55558	hgsc.bcm.edu	37	X	153695615	153695615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-A8YH-01A-11D-A36X-10	TCGA-B9-A8YH-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e6bab9a-ad14-4f30-93d9-00dede084e9c	60ce4360-70f6-4ad0-9057-9fe7428603f7	g.chrX:153695615delC	ENST00000369682.3	+	19	3417	c.3242delC	c.(3241-3243)gccfs	p.A1081fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1081	IPT/TIG 3.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGTGTAAGGCCCCCGGCATC	0.642																																																0													50	48	49					X																	153695615		2202	4299	6501	SO:0001589	frameshift_variant	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3242delC	chrX.hg19:g.153695615delC	ENSP00000358696:p.Ala1081fs		Q5HY36	Frame_Shift_Del	DEL	ENST00000369682.3	hg19	CCDS14752.1																																																																																				0.642	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		-	153695615	C	-	153695615	7	5	306	1	0	1	0	1	0	0	0	0	12123	739	26	0	3312	0	PLXNA3	23	153695615	Frame_Shift_Del	DEL	C	TCGA-B9-A8YH-01A-11D-A36X-10	53320211	153695615	1574945	105	18308											
CHD5	26038	hgsc.bcm.edu	37	1	6214783	6214783	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:6214783C>T	ENST00000262450.3	-	5	781	c.682G>A	c.(682-684)Gtc>Atc	p.V228I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGGGGCTGACGGCTAGCGGA	0.687																																																0													23	21	22					1																	6214783		2180	4275	6455	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.682G>A	chr1.hg19:g.6214783C>T	ENSP00000262450:p.Val228Ile		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	2.102	-0.405865	0.04832	.	.	ENSG00000116254	ENST00000262450	D	0.90563	-2.69	3.84	-2.17	0.07059	.	0.808768	0.10850	N	0.627297	T	0.79650	0.4482	N	0.12746	0.255	0.21473	N	0.999679	B	0.02656	0.0	B	0.01281	0.0	T	0.64287	-0.6443	10	0.36615	T	0.2	-17.4027	10.8414	0.46718	0.0:0.6614:0.0:0.3386	.	228	Q8TDI0	CHD5_HUMAN	I	228	ENSP00000262450:V228I	ENSP00000262450:V228I	V	-	1	0	CHD5	6137370	0.004000	0.15560	0.842000	0.33263	0.036000	0.12997	-0.171000	0.09883	-0.238000	0.09724	-0.657000	0.03884	GTC		0.687	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		T	6214783	C	T	6214783	3	4	307	1	0	0	0	0	1	0	0	0	3330	536	19	1	5330	1	CHD5	1	6214783	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10		6214783	243035838	1	18309											
ENO1	2023	hgsc.bcm.edu	37	1	8926559	8926559	+	Splice_Site	SNP	G	G	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:8926559G>T	ENST00000234590.4	-	7	565	c.446C>A	c.(445-447)gCg>gAg	p.A149E		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	149	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GACATTGAACGCCTGGGGAGA	0.567																																					Esophageal Squamous(21;302 608 19946 22210 33560)											0													77	75	76					1																	8926559		2203	4300	6503	SO:0001630	splice_region_variant	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.445-1C>A	chr1.hg19:g.8926559G>T			B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	hg19	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804238	0.90623	.	.	ENSG00000074800	ENST00000234590	T	0.18016	2.24	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.996;0.998	T	0.55515	-0.8129	10	0.87932	D	0	-16.4671	18.013	0.89230	0.0:0.0:1.0:0.0	.	53;116;56;149	E2DRY6;A4UCS8;P06733-2;P06733	.;.;.;ENOA_HUMAN	E	149	ENSP00000234590:A149E	ENSP00000234590:A149E	A	-	2	0	ENO1	8849146	1.000000	0.71417	0.982000	0.44146	0.696000	0.40369	9.824000	0.99380	2.492000	0.84095	0.563000	0.77884	GCG		0.567	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428	Missense_Mutation	T	8926559	G	T	8926559	5	4	307	1	0	0	0	0	0	0	1	0	5123	1101	38	4	882	4	ENO1	1	8926559	Splice_Site	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	2711776	8926559	240324062	2	18310											
TMEM57	55219	hgsc.bcm.edu	37	1	25784936	25784936	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:25784936G>A	ENST00000374343.4	+	6	886	c.707G>A	c.(706-708)gGt>gAt	p.G236D	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	236					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CACAATGGAGGTATCCCAGCC	0.418																																																0													114	123	120					1																	25784936		2203	4300	6503	SO:0001583	missense	55219			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.707G>A	chr1.hg19:g.25784936G>A	ENSP00000363463:p.Gly236Asp		B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	hg19	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448157	0.84101	.	.	ENSG00000204178	ENST00000374343	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.72865	-0.4163	9	0.15499	T	0.54	-9.6004	19.0021	0.92838	0.0:0.0:1.0:0.0	.	236	Q8N5G2	MACOI_HUMAN	D	236	.	ENSP00000363463:G236D	G	+	2	0	TMEM57	25657523	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.724000	0.93272	0.563000	0.77884	GGT		0.418	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		A	25784936	G	A	25784936	3	1	307	1	0	0	0	0	1	0	0	0	16189	1261	44	2	729	2	TMEM57	1	25784936	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	16858377	25784936	223465685	3	18311											
STMN1	3925	hgsc.bcm.edu	37	1	26230144	26230144	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:26230144T>A	ENST00000399728.1	-	3	537	c.174A>T	c.(172-174)gaA>gaT	p.E58D	STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000374291.1_Missense_Mutation_p.E58D|MIR3917_ENST00000580971.1_RNA|STMN1_ENST00000426559.2_Missense_Mutation_p.E58D|STMN1_ENST00000357865.2_Missense_Mutation_p.E58D|STMN1_ENST00000455785.2_Missense_Mutation_p.E58D	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	58	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGTCTTTCTTCTGCAGCTT	0.388																																																0													166	179	175					1																	26230144		2203	4300	6503	SO:0001583	missense	3925			J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"oncoprotein 18"	151442	"chromosome 1 open reading frame 215", "stathmin 1/oncoprotein 18"	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.174A>T	chr1.hg19:g.26230144T>A	ENSP00000382633:p.Glu58Asp		A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	Missense_Mutation	SNP	ENST00000399728.1	hg19	CCDS269.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140629	0.77775	.	.	ENSG00000117632	ENST00000426559;ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291;ENST00000446334	.	.	.	5.54	1.94	0.25998	.	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.93507	3.425	0.26297	N	0.978036	D;D;D	0.62365	0.991;0.972;0.972	D;D;D	0.68943	0.961;0.958;0.958	T	0.67921	-0.5545	9	0.87932	D	0	.	9.3358	0.38049	0.0:0.2825:0.0:0.7175	.	58;58;58	P16949-2;B5BU83;P16949	.;.;STMN1_HUMAN	D	58	.	ENSP00000350531:E58D	E	-	3	2	STMN1	26102731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.000000	0.29770	0.080000	0.16959	0.533000	0.62120	GAA		0.388	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019359.1	NM_005563		A	26230144	T	A	26230144	3	1	307	1	0	0	0	0	1	0	0	0	15313	1606	56	5	438	5	STMN1	1	26230144	Missense_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	445208	26230144	223020477	4	18312											
UBXN11	91544	hgsc.bcm.edu	37	1	26608865	26608865	+	Silent	SNP	A	A	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:26608865A>G	ENST00000374222.1	-	16	1952	c.1488T>C	c.(1486-1488)ggT>ggC	p.G496G	UBXN11_ENST00000374221.3_Silent_p.G496G|UBXN11_ENST00000374217.2_Silent_p.G463G|UBXN11_ENST00000314675.7_Silent_p.G376G|UBXN11_ENST00000357089.4_Silent_p.G463G|UBXN11_ENST00000374223.1_Silent_p.G253G			Q5T124	UBX11_HUMAN	UBX domain protein 11	496	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						cgggaccgggaccgggactgg	0.721																																																1	Deletion - In frame(1)	ovary(1)											25	29	28					1																	26608865		1768	4016	5784	SO:0001819	synonymous_variant	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1488T>C	chr1.hg19:g.26608865A>G			D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	hg19	CCDS41288.1																																																																																				0.721	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		G	26608865	A	G	26608865	2	3	307	1	0	0	0	0	0	0	0	1	16918	262	10	3		3	UBXN11	1	26608865	Silent	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	378721	26608865	222641756	5	18313											
WASF2	10163	hgsc.bcm.edu	37	1	27742557	27742557	+	Silent	SNP	A	A	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:27742557A>C	ENST00000430629.2	-	5	674	c.459T>G	c.(457-459)ccT>ccG	p.P153P	WASF2_ENST00000536657.1_Silent_p.P153P	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	153					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AGAAGTATGAAGGGTCTGTGT	0.458																																																0													202	177	186					1																	27742557		2203	4300	6503	SO:0001819	synonymous_variant	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.459T>G	chr1.hg19:g.27742557A>C			B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	hg19	CCDS304.1																																																																																				0.458	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		C	27742557	A	C	27742557	2	2	307	1	0	0	0	0	0	0	0	1	17258	59	3	5		5	WASF2	1	27742557	Silent	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	1133692	27742557	221508064	6	18314											
PTPRU	10076	hgsc.bcm.edu	37	1	29585188	29585188	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:29585188G>C	ENST00000345512.3	+	3	506	c.377G>C	c.(376-378)gGc>gCc	p.G126A	PTPRU_ENST00000323874.8_Missense_Mutation_p.G126A|PTPRU_ENST00000428026.2_Missense_Mutation_p.G126A|PTPRU_ENST00000356870.3_Missense_Mutation_p.G126A|PTPRU_ENST00000460170.2_Missense_Mutation_p.G126A|PTPRU_ENST00000373779.3_Missense_Mutation_p.G126A	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	126	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTTAATGGGGGCCCCCTGGGC	0.607																																																0													78	86	83					1																	29585188		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.377G>C	chr1.hg19:g.29585188G>C	ENSP00000334941:p.Gly126Ala		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	hg19	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382138	0.95967	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.02631	4.22;4.22;4.22;4.22;4.22;4.22	5.72	5.72	0.89469	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	L	0.58583	1.82	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.00498	-1.1704	9	.	.	.	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	126;126;126;126;126	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	A	126	ENSP00000334941:G126A;ENSP00000362884:G126A;ENSP00000349333:G126A;ENSP00000314987:G126A;ENSP00000392332:G126A;ENSP00000432906:G126A	.	G	+	2	0	PTPRU	29457775	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.960000	0.87893	2.699000	0.92147	0.591000	0.81541	GGC		0.607	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			C	29585188	G	C	29585188	3	2	307	1	0	0	0	0	1	0	0	0	12819	1203	42	4	387	4	PTPRU	1	29585188	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	1842631	29585188	219665433	7	18315											
DLGAP3	58512	hgsc.bcm.edu	37	1	35370206	35370206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:35370206C>T	ENST00000373347.1	-	3	1047	c.779G>A	c.(778-780)tGg>tAg	p.W260*	DLGAP3_ENST00000235180.4_Nonsense_Mutation_p.W260*|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	260					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGAACTCCACCAGCCTGTGGA	0.652																																																0													124	114	117					1																	35370206		2203	4300	6503	SO:0001587	stop_gained	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.779G>A	chr1.hg19:g.35370206C>T	ENSP00000362444:p.Trp260*		Q5TDD5|Q9H3X7	Nonsense_Mutation	SNP	ENST00000373347.1	hg19	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	38	7.264207	0.98171	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5694	18.7023	0.91625	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000235180:W260X	W	-	2	0	DLGAP3	35142793	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.378000	0.79679	2.492000	0.84095	0.655000	0.94253	TGG		0.652	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		T	35370206	C	T	35370206	4	4	307	1	0	0	0	0	0	1	0	0	4563	595	21	2	2200	2	DLGAP3	1	35370206	Nonsense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	5785018	35370206	213880415	8	18316											
KLHL20	27252	hgsc.bcm.edu	37	1	173754361	173754361	+	Silent	SNP	A	A	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:173754361A>G	ENST00000209884.4	+	12	1942	c.1806A>G	c.(1804-1806)acA>acG	p.T602T	KLHL20_ENST00000546011.1_Silent_p.T413T	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	602					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TTAAAATGACACATTGTGAAT	0.408																																					GBM(159;862 2695 6559 23041)											0													110	110	110					1																	173754361		2203	4300	6503	SO:0001819	synonymous_variant	27252			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1806A>G	chr1.hg19:g.173754361A>G			B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	hg19	CCDS1310.1																																																																																				0.408	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		G	173754361	A	G	173754361	2	3	307	1	0	0	0	0	0	0	0	1	8377	146	6	3		3	KLHL20	1	173754361	Silent	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	138384155	173754361	75496260	9	18317											
RFWD2	64326	hgsc.bcm.edu	37	1	176105635	176105635	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:176105635T>G	ENST00000367669.3	-	7	1394	c.880A>C	c.(880-882)Aag>Cag	p.K294Q	RFWD2_ENST00000308769.8_Intron	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	294					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCACTCTCTTAATATCCTCT	0.343																																					Ovarian(134;1413 1765 5706 35534 51541)											0													119	113	115					1																	176105635		2202	4300	6502	SO:0001583	missense	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.880A>C	chr1.hg19:g.176105635T>G	ENSP00000356641:p.Lys294Gln		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	hg19	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.128960	0.37533	.	.	ENSG00000143207	ENST00000367665;ENST00000367669	T	0.12147	2.71	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	N	0.21448	0.665	0.80722	D	1	B;P;D	0.57899	0.2;0.659;0.981	B;P;D	0.67231	0.175;0.775;0.95	T	0.06881	-1.0802	10	0.21014	T	0.42	-14.9048	15.0966	0.72238	0.0:0.0:0.0:1.0	.	30;54;294	Q8NHY2-3;B1AMD2;Q8NHY2	.;.;RFWD2_HUMAN	Q	30;294	ENSP00000356641:K294Q	ENSP00000356637:K30Q	K	-	1	0	RFWD2	174372258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.068000	0.71201	2.060000	0.61445	0.528000	0.53228	AAG		0.343	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		G	176105635	T	G	176105635	3	3	307	1	0	0	0	0	1	0	0	0	13266	1763	61	5	1371	5	RFWD2	1	176105635	Missense_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	2351274	176105635	73144986	10	18318											
PTPN14	5784	hgsc.bcm.edu	37	1	214568286	214568292	+	Frame_Shift_Del	DEL	GAATGGT	GAATGGT	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	GAATGGT	GAATGGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:214568286_214568292delGAATGGT	ENST00000366956.5	-	9	990_996	c.796_802delACCATTC	c.(796-804)accattctafs	p.TIL266fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	266	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.L268L(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGCTCCACTAGAATGGTCGACTTGTTA	0.43																																					Colon(92;557 1424 24372 34121 40073)											1	Substitution - coding silent(1)	lung(1)																																								SO:0001589	frameshift_variant	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.796_802delACCATTC	chr1.hg19:g.214568286_214568292delGAATGGT	ENSP00000355923:p.Thr266fs		Q5VSI0	Frame_Shift_Del	DEL	ENST00000366956.5	hg19	CCDS1514.1																																																																																				0.43	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		-	214568292	GAATGGT	-	214568286	7	5	307	1	0	1	0	1	0	0	0	0	12789	933	33	0	2805	0	PTPN14	1	214568286	Frame_Shift_Del	DEL	GAATGGT	TCGA-B9-A8YI-01A-21D-A36X-10	38462651	214568286	34682335	11	18319											
IARS2	55699	hgsc.bcm.edu	37	1	220316411	220316411	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:220316411delA	ENST00000302637.5	+	21	2790	c.2686delA	c.(2686-2688)aaafs	p.K896fs	IARS2_ENST00000366922.1_Frame_Shift_Del_p.K824fs|IARS2_ENST00000467924.1_3'UTR	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	896					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CATCCCTGGCAAAAATGCAGC	0.433																																																0													144	136	139					1																	220316411		2203	4300	6503	SO:0001589	frameshift_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2686delA	chr1.hg19:g.220316411delA	ENSP00000303279:p.Lys896fs		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Frame_Shift_Del	DEL	ENST00000302637.5	hg19	CCDS1523.1																																																																																				0.433	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		-	220316411	A	-	220316411	7	5	307	1	0	1	0	1	0	0	0	0	7476	131	5	0	2768	0	IARS2	1	220316411	Frame_Shift_Del	DEL	A	TCGA-B9-A8YI-01A-21D-A36X-10	5748125	220316411	28934210	12	18320											
WDR64	128025	hgsc.bcm.edu	37	1	241823862	241823862	+	Nonsense_Mutation	SNP	C	C	A	rs150170869	byFrequency	TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:241823862C>A	ENST00000366552.2	+	2	383	c.176C>A	c.(175-177)tCg>tAg	p.S59*	WDR64_ENST00000461971.1_3'UTR|WDR64_ENST00000437684.2_Nonsense_Mutation_p.S59*	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	59										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TTTTATGCATCGGTACAGAAG	0.393																																																0													262	219	232					1																	241823862		692	1591	2283	SO:0001587	stop_gained	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.176C>A	chr1.hg19:g.241823862C>A	ENSP00000355510:p.Ser59*		B1ANT0|Q7Z573|Q96LY9	Nonsense_Mutation	SNP	ENST00000366552.2	hg19		.	.	.	.	.	.	.	.	.	.	C	37	6.339487	0.97489	.	.	ENSG00000162843	ENST00000366552;ENST00000437684	.	.	.	5.36	2.28	0.28536	.	1.244700	0.05867	N	0.623941	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	0.5859	4.3923	0.11346	0.3709:0.4575:0.0:0.1716	.	.	.	.	X	59	.	ENSP00000355510:S59X	S	+	2	0	WDR64	239890485	0.000000	0.05858	0.000000	0.03702	0.721000	0.41392	0.083000	0.14871	0.148000	0.19059	0.655000	0.94253	TCG		0.393	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		A	241823862	C	A	241823862	4	1	307	1	0	0	0	0	0	1	0	0	17320	893	31	4	182	4	WDR64	1	241823862	Nonsense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	21507451	241823862	7426759	13	18321											
OR11L1	391189	hgsc.bcm.edu	37	1	248004550	248004550	+	Missense_Mutation	SNP	G	G	A	rs563634223		TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr1:248004550G>A	ENST00000355784.2	-	1	704	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	217						extracellular vesicular exosome (GO:0070062)|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(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAAACATAGGGCCCCAGTGTC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		20737	0.0		0.0	False		,,,				2504	0.001															0													83	87	86					1																	248004550		2203	4300	6503	SO:0001583	missense	391189			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.649C>T	chr1.hg19:g.248004550G>A	ENSP00000348033:p.Pro217Ser			Missense_Mutation	SNP	ENST00000355784.2	hg19	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.365610	0.00212	.	.	ENSG00000197591	ENST00000355784	T	0.28895	1.59	4.27	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34245	N	0.004124	T	0.02649	0.0080	N	0.00004	-3.355	0.21553	N	0.999641	B	0.02656	0.0	B	0.01281	0.0	T	0.40869	-0.9540	10	0.02654	T	1	.	5.3774	0.16172	0.7611:0.0:0.0856:0.1533	.	217	Q8NGX0	O11L1_HUMAN	S	217	ENSP00000348033:P217S	ENSP00000348033:P217S	P	-	1	0	OR11L1	246071173	0.973000	0.33851	0.617000	0.29091	0.139000	0.21198	3.184000	0.50926	0.774000	0.33427	-0.474000	0.04947	CCC		0.488	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		A	248004550	G	A	248004550	3	1	307	1	0	0	0	0	1	0	0	0	10932	1203	42	2	323	2	OR11L1	1	248004550	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	6180688	248004550	1246071	14	18322											
PNPT1	87178	hgsc.bcm.edu	37	2	55900032	55900032	+	Missense_Mutation	SNP	G	G	C	rs141543222	byFrequency	TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr2:55900032G>C	ENST00000447944.2	-	9	948	c.862C>G	c.(862-864)Cat>Gat	p.H288D		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	288					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTTACTTATGAGTATATTTC	0.388																																																0													120	122	122					2																	55900032		2203	4300	6503	SO:0001583	missense	87178			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.862C>G	chr2.hg19:g.55900032G>C	ENSP00000400646:p.His288Asp		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	hg19	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	9.531	1.110961	0.20714	.	.	ENSG00000138035	ENST00000447944	T	0.56444	0.46	5.77	1.71	0.24356	Polynucleotide phosphorylase, phosphorolytic RNA-binding, bacterial/organelle-type (3);	0.736854	0.13396	N	0.390997	T	0.30696	0.0773	N	0.08118	0	0.21416	N	0.999699	B	0.02656	0.0	B	0.06405	0.002	T	0.20773	-1.0265	10	0.44086	T	0.13	.	9.8321	0.40948	0.071:0.0:0.4272:0.5018	.	288	Q8TCS8	PNPT1_HUMAN	D	288	ENSP00000400646:H288D	ENSP00000386075:H288D	H	-	1	0	PNPT1	55753536	0.997000	0.39634	0.469000	0.27204	0.706000	0.40770	2.348000	0.44045	0.435000	0.26365	-0.169000	0.13324	CAT		0.388	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		C	55900032	G	C	55900032	3	2	307	1	0	0	0	0	1	0	0	0	12175	1290	45	4	1569	4	PNPT1	2	55900032	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10		55900032	187299341	15	18323											
CNNM4	26504	hgsc.bcm.edu	37	2	97427711	97427711	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr2:97427711C>G	ENST00000377075.2	+	1	1073	c.975C>G	c.(973-975)gaC>gaG	p.D325E		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	325	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGCTCCTGGACTTTTTTCTGG	0.517																																																0													94	98	97					2																	97427711		2203	4300	6503	SO:0001583	missense	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.975C>G	chr2.hg19:g.97427711C>G	ENSP00000366275:p.Asp325Glu		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	hg19	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706539	0.48412	.	.	ENSG00000158158	ENST00000377075	D	0.88509	-2.39	5.03	0.441	0.16577	Domain of unknown function DUF21 (1);	0.000000	0.85682	D	0.000000	D	0.90964	0.7159	M	0.81239	2.535	0.80722	D	1	P	0.47191	0.891	P	0.53809	0.735	D	0.88147	0.2848	10	0.38643	T	0.18	-3.7681	10.429	0.44395	0.0:0.6505:0.0:0.3495	.	325	Q6P4Q7	CNNM4_HUMAN	E	325	ENSP00000366275:D325E	ENSP00000366275:D325E	D	+	3	2	CNNM4	96791438	0.977000	0.34250	0.961000	0.40146	0.995000	0.86356	0.470000	0.22084	0.136000	0.18733	0.655000	0.94253	GAC		0.517	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		G	97427711	C	G	97427711	3	3	307	1	0	0	0	0	1	0	0	0	3617	564	20	4	977	4	CNNM4	2	97427711	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	41527679	97427711	145771662	16	18324											
MCM6	4175	hgsc.bcm.edu	37	2	136614438	136614438	+	Missense_Mutation	SNP	G	G	A	rs202222981		TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr2:136614438G>A	ENST00000264156.2	-	11	1546	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	496	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		ATGGACGTCCGGGCGTTCAGA	0.388																																					Ovarian(196;141 2104 8848 24991 25939)											0													79	77	78					2																	136614438		2203	4300	6503	SO:0001583	missense	4175				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1486C>T	chr2.hg19:g.136614438G>A	ENSP00000264156:p.Arg496Trp		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	hg19	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325884	0.60743	.	.	ENSG00000076003	ENST00000264156	T	0.12672	2.66	5.87	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74140	-0.3761	10	0.87932	D	0	-14.5676	12.8383	0.57786	0.0:0.0:0.4151:0.5849	.	496	Q14566	MCM6_HUMAN	W	496	ENSP00000264156:R496W	ENSP00000264156:R496W	R	-	1	2	MCM6	136330908	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	3.514000	0.53422	0.460000	0.27045	-0.467000	0.05162	CGG		0.388	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		A	136614438	G	A	136614438	3	1	307	1	0	0	0	0	1	0	0	0	9393	1115	39	1	1007	1	MCM6	2	136614438	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	39186727	136614438	106584935	17	18325											
TTN	7273	hgsc.bcm.edu	37	2	179604477	179604477	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr2:179604477T>A	ENST00000591111.1	-	46	12756	c.12532A>T	c.(12532-12534)Att>Ttt	p.I4178F	TTN_ENST00000359218.5_Missense_Mutation_p.I4257F|TTN_ENST00000460472.2_Missense_Mutation_p.I4132F|TTN_ENST00000342175.6_Missense_Mutation_p.I4324F|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I4495F|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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)			CCTTGCTGAATTCTAGGACCC	0.383																																																0													189	188	188					2																	179604477		1861	4101	5962	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12532A>T	chr2.hg19:g.179604477T>A	ENSP00000465570:p.Ile4178Phe		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	T	4.968	0.179779	0.09443	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.63580	0.01;-0.04;-0.05	5.44	1.48	0.22813	.	.	.	.	.	T	0.47322	0.1439	L	0.42245	1.32	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47355	-0.9124	9	0.87932	D	0	.	0.8604	0.01192	0.1519:0.2518:0.1568:0.4394	.	4132;4257;4324	D3DPF9;E7EQE6;E7ET18	.;.;.	F	4132;4324;4257;4132	ENSP00000434586:I4132F;ENSP00000340554:I4324F;ENSP00000352154:I4257F	ENSP00000340554:I4324F	I	-	1	0	TTN	179312722	0.000000	0.05858	0.195000	0.23364	0.349000	0.29174	-0.311000	0.08124	0.354000	0.24105	0.533000	0.62120	ATT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179604477	T	A	179604477	3	1	307	1	0	0	0	0	1	0	0	0	16740	1493	52	5	91306	5	TTN	2	179604477	Missense_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	42990039	179604477	63594896	18	18326	145	2									
TTN	7273	hgsc.bcm.edu	37	2	179604480	179604480	+	Silent	SNP	T	T	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr2:179604480T>G	ENST00000591111.1	-	46	12753	c.12529A>C	c.(12529-12531)Aga>Cga	p.R4177R	TTN_ENST00000359218.5_Silent_p.R4256R|TTN_ENST00000460472.2_Silent_p.R4131R|TTN_ENST00000342175.6_Silent_p.R4323R|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.R4494R|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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)			TGCTGAATTCTAGGACCCTCA	0.388																																																0													189	187	188					2																	179604480		1855	4102	5957	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12529A>C	chr2.hg19:g.179604480T>G			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	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179604480	T	G	179604480	2	3	307	1	0	0	0	0	0	0	0	1	16740	1530	53	5		5	TTN	2	179604480	Silent	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	3	179604480	63594893	19	18327	145	2									
CUL3	8452	hgsc.bcm.edu	37	2	225360561	225360561	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr2:225360561delT	ENST00000264414.4	-	13	2168	c.1830delA	c.(1828-1830)aaafs	p.K610fs	CUL3_ENST00000409777.1_Frame_Shift_Del_p.K586fs|CUL3_ENST00000409096.1_Frame_Shift_Del_p.K586fs|CUL3_ENST00000344951.4_Frame_Shift_Del_p.K544fs	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	610					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CAAATGTGTATTTTTCTCTAT	0.333																																																0													103	101	101					2																	225360561		2202	4300	6502	SO:0001589	frameshift_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1830delA	chr2.hg19:g.225360561delT	ENSP00000264414:p.Lys610fs		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Frame_Shift_Del	DEL	ENST00000264414.4	hg19	CCDS2462.1																																																																																				0.333	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			-	225360561	T	-	225360561	7	5	307	1	0	1	0	1	0	0	0	0	4058	1490	52	0	492	0	CUL3	2	225360561	Frame_Shift_Del	DEL	T	TCGA-B9-A8YI-01A-21D-A36X-10	45756081	225360561	17838812	20	18328											
DIS3L2	129563	hgsc.bcm.edu	37	2	233001388	233001388	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr2:233001388C>T	ENST00000360410.4	+	9	1244	c.968C>T	c.(967-969)gCc>gTc	p.A323V	DIS3L2_ENST00000273009.6_Silent_p.C303C|DIS3L2_ENST00000409307.1_Silent_p.C303C|DIS3L2_ENST00000325385.7_Silent_p.C303C					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGTTCATCTGCCGCATTGTGG	0.517																																																0													115	110	112					2																	233001388		1948	4147	6095	SO:0001583	missense	129563			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000360410.4:c.968C>T	chr2.hg19:g.233001388C>T	ENSP00000353584:p.Ala323Val			Silent	SNP	ENST00000360410.4	hg19		.	.	.	.	.	.	.	.	.	.	C	24.4	4.524345	0.85600	.	.	ENSG00000144535	ENST00000360410	T	0.38560	1.13	6.08	5.21	0.72293	.	.	.	.	.	T	0.49270	0.1547	.	.	.	0.25328	N	0.989053	.	.	.	.	.	.	T	0.47560	-0.9108	6	0.87932	D	0	-20.4148	11.8835	0.52589	0.0:0.8511:0.0:0.1489	.	.	.	.	V	323	ENSP00000353584:A323V	ENSP00000353584:A323V	A	+	2	0	DIS3L2	232709632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.662000	0.37418	1.592000	0.50018	0.591000	0.81541	GCC		0.517	DIS3L2-202	KNOWN	basic	protein_coding	protein_coding		NM_152383		T	233001388	C	T	233001388	3	4	307	1	0	0	0	0	1	0	0	0	4539	747	26	2	935	2	DIS3L2	2	233001388	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	7640827	233001388	10197985	21	18329											
NUP210	23225	hgsc.bcm.edu	37	3	13383246	13383246	+	Splice_Site	SNP	A	A	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr3:13383246A>G	ENST00000254508.5	-	23	3311		c.e23+1		NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AACTCGTCTTACTTCAATCTG	0.507																																																0													158	130	140					3																	13383246		2203	4300	6503	SO:0001630	splice_region_variant	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3228+1T>C	chr3.hg19:g.13383246A>G			A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Splice_Site	SNP	ENST00000254508.5	hg19	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972046	0.53614	.	.	ENSG00000132182	ENST00000254508	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8389	0.70209	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP210	13358246	1.000000	0.71417	0.859000	0.33776	0.496000	0.33645	8.214000	0.89760	2.147000	0.66899	0.455000	0.32223	.		0.507	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	Intron	G	13383246	A	G	13383246	5	3	307	1	0	0	0	0	0	0	1	0	10762	405	14	3	2505	3	NUP210	3	13383246	Splice_Site	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10		13383246	184639184	22	18330											
COLQ	8292	hgsc.bcm.edu	37	3	15531095	15531095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr3:15531095G>T	ENST00000383788.5	-	2	281	c.156C>A	c.(154-156)tgC>tgA	p.C52*	COLQ_ENST00000383786.5_Nonsense_Mutation_p.C52*|COLQ_ENST00000603808.1_Nonsense_Mutation_p.C52*|COLQ_ENST00000435459.2_Nonsense_Mutation_p.C42*|COLQ_ENST00000383781.4_Nonsense_Mutation_p.C42*|COLQ_ENST00000383785.2_Nonsense_Mutation_p.C52*|COLQ_ENST00000383787.2_Nonsense_Mutation_p.C52*	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	52	PRAD.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GCGTCAGCAGGCAGCATGCTT	0.552																																																0													97	79	85					3																	15531095		2203	4300	6503	SO:0001587	stop_gained	8292			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "collagenic tail of endplate acetylcholinesterase", "AChE Q subunit", "acetylcholinesterase-associated collagen"	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.156C>A	chr3.hg19:g.15531095G>T	ENSP00000373298:p.Cys52*		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Nonsense_Mutation	SNP	ENST00000383788.5	hg19	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	G	34	5.335466	0.95758	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	.	.	.	5.31	2.52	0.30459	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6715	6.8574	0.24048	0.2721:0.0:0.7279:0.0	.	.	.	.	X	52;42;42;52;52;42;52;52;29	.	ENSP00000373291:C42X	C	-	3	2	COLQ	15506099	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.188000	0.32102	1.249000	0.43950	0.561000	0.74099	TGC		0.552	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		T	15531095	G	T	15531095	4	4	307	1	0	0	0	0	0	1	0	0	3715	1195	42	4	1275	4	COLQ	3	15531095	Nonsense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	2147849	15531095	182491335	23	18331											
CTNNB1	1499	hgsc.bcm.edu	37	3	41275683	41275683	+	Silent	SNP	T	T	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr3:41275683T>G	ENST00000349496.5	+	10	1858	c.1578T>G	c.(1576-1578)ccT>ccG	p.P526P	CTNNB1_ENST00000396185.3_Silent_p.P526P|CTNNB1_ENST00000405570.1_Silent_p.P526P|CTNNB1_ENST00000396183.3_Silent_p.P526P|CTNNB1_ENST00000453024.1_Silent_p.P519P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	526					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ATCATGCACCTTTGCGTGAGC	0.483		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	0													157	134	142					3																	41275683		2203	4300	6503	SO:0001819	synonymous_variant	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1578T>G	chr3.hg19:g.41275683T>G			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	hg19	CCDS2694.1																																																																																				0.483	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		G	41275683	T	G	41275683	2	3	307	1	0	0	0	0	0	0	0	1	4018	1596	56	5		5	CTNNB1	3	41275683	Silent	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	25744588	41275683	156746747	24	18332											
GPR87	53836	hgsc.bcm.edu	37	3	151012726	151012726	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr3:151012726C>G	ENST00000260843.4	-	3	772	c.308G>C	c.(307-309)gGa>gCa	p.G103A	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	103					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGTCCAAATCCTGCATCATG	0.378																																																0													130	129	129					3																	151012726		2203	4300	6503	SO:0001583	missense	53836			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.308G>C	chr3.hg19:g.151012726C>G	ENSP00000260843:p.Gly103Ala		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	hg19	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920883	0.52653	.	.	ENSG00000138271	ENST00000260843	T	0.70631	-0.5	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.138010	0.47852	D	0.000213	T	0.71929	0.3398	L	0.46741	1.465	0.44771	D	0.99777	D	0.56746	0.977	P	0.57204	0.815	T	0.65825	-0.6074	10	0.07644	T	0.81	-8.5498	13.8439	0.63455	0.0:0.9243:0.0:0.0757	.	103	Q9BY21	GPR87_HUMAN	A	103	ENSP00000260843:G103A	ENSP00000260843:G103A	G	-	2	0	GPR87	152495416	0.975000	0.34042	0.899000	0.35326	0.921000	0.55340	3.443000	0.52907	2.688000	0.91661	0.655000	0.94253	GGA		0.378	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			G	151012726	C	G	151012726	3	3	307	1	0	0	0	0	1	0	0	0	6718	855	30	4	772	4	GPR87	3	151012726	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	109737043	151012726	47009704	25	18333											
PIK3CA	5290	hgsc.bcm.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	chr3.hg19:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	hg19	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936082	G	A	178936082	3	1	307	1	0	0	0	0	1	0	0	0	11915	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	27923356	178936082	19086348	26	18334											
PIGG	54872	hgsc.bcm.edu	37	4	514958	514958	+	Silent	SNP	A	A	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr4:514958A>C	ENST00000453061.2	+	7	1334	c.1228A>C	c.(1228-1230)Agg>Cgg	p.R410R	PIGG_ENST00000310340.5_Silent_p.R410R|PIGG_ENST00000383028.4_Silent_p.R277R|PIGG_ENST00000504346.1_Silent_p.R321R|PIGG_ENST00000536264.1_Silent_p.R288R|PIGG_ENST00000503111.1_Intron|PIGG_ENST00000296306.7_Intron|PIGG_ENST00000509768.1_Silent_p.R321R	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	410					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CAAGGTTCTCAGGCAGTACCT	0.488																																																0													137	113	121					4																	514958		2203	4300	6503	SO:0001819	synonymous_variant	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1228A>C	chr4.hg19:g.514958A>C			B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	hg19	CCDS46992.1																																																																																				0.488	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		C	514958	A	C	514958	2	2	307	1	0	0	0	0	0	0	0	1	11890	179	7	5		5	PIGG	4	514958	Silent	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10		514958	190639318	27	18335											
D4S234E	27065	hgsc.bcm.edu	37	4	4389387	4389387	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr4:4389387A>G	ENST00000421177.2	+	6	2022	c.31A>G	c.(31-33)Aag>Gag	p.K11E	NSG1_ENST00000433139.2_Missense_Mutation_p.K11E|NSG1_ENST00000505246.1_Missense_Mutation_p.K11E|NSG1_ENST00000504171.1_Missense_Mutation_p.K11E|NSG1_ENST00000513555.1_Missense_Mutation_p.K11E|NSG1_ENST00000506380.1_Missense_Mutation_p.K11E|NSG1_ENST00000397958.1_Missense_Mutation_p.K11E			P42857	NSG1_HUMAN		11					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TTTCGCAGAGAAGGGCACCAA	0.637																																																0													75	70	72					4																	4389387		2203	4300	6503	SO:0001583	missense	0																														ENST00000421177.2:c.31A>G	chr4.hg19:g.4389387A>G	ENSP00000388823:p.Lys11Glu		B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	hg19	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410458	0.62399	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	3.41	3.41	0.39046	.	0.184924	0.35013	N	0.003502	T	0.68540	0.3012	M	0.73217	2.22	0.48511	D	0.999661	B;B	0.31054	0.043;0.306	B;B	0.43360	0.073;0.417	T	0.72836	-0.4172	9	0.87932	D	0	-11.9118	12.1775	0.54194	1.0:0.0:0.0:0.0	.	11;11	B4DXC5;P42857	.;NSG1_HUMAN	E	11	.	ENSP00000381049:K11E	K	+	1	0	AC110814.1	4440288	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.816000	0.86201	1.334000	0.45468	0.260000	0.18958	AAG		0.637	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			G	4389387	A	G	4389387	3	3	307	1	0	0	0	0	1	0	0	0	4216	247	9	3	33	3	D4S234E	4	4389387	Missense_Mutation	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	3874429	4389387	186764889	28	18336											
KLF3	51274	hgsc.bcm.edu	37	4	38690438	38690438	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr4:38690438T>C	ENST00000261438.5	+	3	595	c.290T>C	c.(289-291)aTg>aCg	p.M97T	KLF3_ENST00000514033.1_Missense_Mutation_p.M97T	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	97	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GGGTTGAGCATGCCTTCTTCC	0.612																																																0													77	75	76					4																	38690438		2203	4300	6503	SO:0001583	missense	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.290T>C	chr4.hg19:g.38690438T>C	ENSP00000261438:p.Met97Thr		Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	hg19	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.252657	0.22965	.	.	ENSG00000109787	ENST00000261438;ENST00000514033	T;T	0.48522	0.81;0.81	6.06	6.06	0.98353	.	0.400686	0.28077	N	0.016682	T	0.33000	0.0848	N	0.14661	0.345	0.30663	N	0.754158	B	0.11235	0.004	B	0.09377	0.004	T	0.18398	-1.0338	10	0.22706	T	0.39	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	97	P57682	KLF3_HUMAN	T	97	ENSP00000261438:M97T;ENSP00000421252:M97T	ENSP00000261438:M97T	M	+	2	0	KLF3	38366833	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	3.153000	0.50685	2.324000	0.78689	0.533000	0.62120	ATG		0.612	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			C	38690438	T	C	38690438	3	2	307	1	0	0	0	0	1	0	0	0	8349	1464	51	3	296	3	KLF3	4	38690438	Missense_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	34301051	38690438	152463838	29	18337											
AMBN	258	hgsc.bcm.edu	37	4	71468348	71468348	+	Missense_Mutation	SNP	G	G	T	rs368655454|rs141384720|rs199556863	byFrequency	TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr4:71468348G>T	ENST00000322937.6	+	7	642	c.539G>T	c.(538-540)gGa>gTa	p.G180V	AMBN_ENST00000449493.2_Missense_Mutation_p.G165V	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	180				G -> R (in Ref. 3; AAG35772 and 4; AAG27036). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TAGCTCCCAGGAGTAGATTTT	0.264																																																0													42	49	47					4																	71468348		2161	4276	6437	SO:0001583	missense	258			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.539G>T	chr4.hg19:g.71468348G>T	ENSP00000313809:p.Gly180Val		Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	hg19	CCDS3543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.097|0.097	-1.157535|-1.157535	0.01686|0.01686	.|.	.|.	ENSG00000178522|ENSG00000178522	ENST00000322937;ENST00000449493|ENST00000538728	T;T|.	0.27890|.	1.64;1.64|.	3.34|3.34	-2.84|-2.84	0.05751|0.05751	.|.	2.543920|.	0.02234|.	U|.	0.065161|.	T|T	0.18002|0.18002	0.0432|0.0432	N|N	0.22421|0.22421	0.69|0.69	0.19575|0.19575	N|N	0.999964|0.999964	B|.	0.17268|.	0.021|.	B|.	0.12837|.	0.008|.	T|T	0.24190|0.24190	-1.0167|-1.0167	10|6	0.22706|0.29301	T|T	0.39|0.29	.|.	0.3396|0.3396	0.00331|0.00331	0.3712:0.1546:0.2472:0.227|0.3712:0.1546:0.2472:0.227	.|.	180|.	Q9NP70|.	AMBN_HUMAN|.	V|L	180;165|179	ENSP00000313809:G180V;ENSP00000391234:G165V|.	ENSP00000313809:G180V|ENSP00000445605:R179L	G|R	+|+	2|2	0|0	AMBN|AMBN	71502937|71502937	0.095000|0.095000	0.21747|0.21747	0.002000|0.002000	0.10522|0.10522	0.194000|0.194000	0.23727|0.23727	-0.066000|-0.066000	0.11598|0.11598	-0.545000|-0.545000	0.06224|0.06224	0.305000|0.305000	0.20034|0.20034	GGA|CGA		0.264	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		T	71468348	G	T	71468348	3	4	307	1	0	0	0	0	1	0	0	0	563	1174	41	4	565	4	AMBN	4	71468348	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	32777910	71468348	119685928	30	18338											
TMEM150C	441027	hgsc.bcm.edu	37	4	83424056	83424056	+	Silent	SNP	T	T	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr4:83424056T>G	ENST00000515780.2	-	4	363	c.159A>C	c.(157-159)ccA>ccC	p.P53P	TMEM150C_ENST00000449862.2_Silent_p.P53P|TMEM150C_ENST00000508701.1_Silent_p.P53P			B9EJG8	T150C_HUMAN	transmembrane protein 150C	53						integral component of membrane (GO:0016021)				ovary(1)	1						ACCTTATATATGGTGCATGCT	0.378																																																0													54	50	51					4																	83424056		1818	4082	5900	SO:0001819	synonymous_variant	441027			BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.159A>C	chr4.hg19:g.83424056T>G			B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Silent	SNP	ENST00000515780.2	hg19	CCDS47087.1																																																																																				0.378	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506		G	83424056	T	G	83424056	2	3	307	1	0	0	0	0	0	0	0	1	16074	1451	51	5		5	TMEM150C	4	83424056	Silent	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	11955708	83424056	107730220	31	18339											
WDFY3	23001	hgsc.bcm.edu	37	4	85748064	85748064	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr4:85748064T>C	ENST00000295888.4	-	10	1434	c.1027A>G	c.(1027-1029)Aca>Gca	p.T343A	WDFY3_ENST00000322366.6_Missense_Mutation_p.T343A	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	343					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCATATGTTGTTAGGGAAGTT	0.403																																																0													131	120	124					4																	85748064		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1027A>G	chr4.hg19:g.85748064T>C	ENSP00000295888:p.Thr343Ala		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497563	0.44455	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.15372	2.43;2.43	5.54	5.54	0.83059	.	0.102926	0.64402	D	0.000003	T	0.12092	0.0294	L	0.36672	1.1	0.54753	D	0.999988	B;B	0.28378	0.209;0.129	B;B	0.25140	0.058;0.058	T	0.07693	-1.0759	10	0.08837	T	0.75	.	10.8264	0.46635	0.0:0.0736:0.0:0.9264	.	343;343	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	A	343	ENSP00000318466:T343A;ENSP00000295888:T343A	ENSP00000295888:T343A	T	-	1	0	WDFY3	85967088	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.679000	0.54634	2.102000	0.63906	0.533000	0.62120	ACA		0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		C	85748064	T	C	85748064	3	2	307	1	0	0	0	0	1	0	0	0	17275	1725	60	3	9832	3	WDFY3	4	85748064	Missense_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	2324008	85748064	105406212	32	18340											
SPRY1	10252	hgsc.bcm.edu	37	4	124323105	124323105	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr4:124323105C>T	ENST00000394339.2	+	2	699	c.359C>T	c.(358-360)gCa>gTa	p.A120V	SPRY1_ENST00000339241.1_Missense_Mutation_p.A120V	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	120					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						ACTGGAAGTGCAGCCAGCTCT	0.542																																																0													55	59	58					4																	124323105		2203	4300	6503	SO:0001583	missense	10252			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.359C>T	chr4.hg19:g.124323105C>T	ENSP00000377871:p.Ala120Val		D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	hg19	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022104	0.75275	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.55760	0.5;1.48;0.5	5.06	5.06	0.68205	.	0.066264	0.64402	D	0.000017	T	0.66336	0.2779	M	0.63428	1.95	0.58432	D	0.999997	D	0.61080	0.989	P	0.57846	0.828	T	0.65500	-0.6153	9	.	.	.	-14.3112	18.2393	0.89961	0.0:1.0:0.0:0.0	.	120	O43609	SPY1_HUMAN	V	120	ENSP00000343785:A120V;ENSP00000421036:A120V;ENSP00000377871:A120V	.	A	+	2	0	SPRY1	124542555	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.292000	0.65673	2.622000	0.88805	0.561000	0.74099	GCA		0.542	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			T	124323105	C	T	124323105	3	4	307	1	0	0	0	0	1	0	0	0	15110	710	25	2	361	2	SPRY1	4	124323105	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	38575041	124323105	66831171	33	18341											
NAA15	80155	hgsc.bcm.edu	37	4	140291525	140291525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr4:140291525delA	ENST00000296543.5	+	15	2237	c.1914delA	c.(1912-1914)ccafs	p.P638fs	NAA15_ENST00000398947.1_Frame_Shift_Del_p.P638fs	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	638	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						taggaggtccaaaagaagaaC	0.353																																																0													81	81	81					4																	140291525		1855	4102	5957	SO:0001589	frameshift_variant	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1914delA	chr4.hg19:g.140291525delA	ENSP00000296543:p.Pro638fs		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Frame_Shift_Del	DEL	ENST00000296543.5	hg19	CCDS43270.1																																																																																				0.353	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		-	140291525	A	-	140291525	7	5	307	1	0	1	0	1	0	0	0	0	10120	117	5	0	1972	0	NAA15	4	140291525	Frame_Shift_Del	DEL	A	TCGA-B9-A8YI-01A-21D-A36X-10	15968420	140291525	50862751	34	18342											
TLR2	7097	hgsc.bcm.edu	37	4	154625017	154625017	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr4:154625017C>T	ENST00000260010.6	+	1	2366	c.958C>T	c.(958-960)Cca>Tca	p.P320S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	320					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GCTGCATATTCCAAGGTTTTA	0.348																																																0													64	68	66					4																	154625017		2203	4298	6501	SO:0001583	missense	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.958C>T	chr4.hg19:g.154625017C>T	ENSP00000260010:p.Pro320Ser		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	hg19	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	9.250	1.040467	0.19669	.	.	ENSG00000137462	ENST00000260010	T	0.45668	0.89	6.06	3.3	0.37823	.	0.968721	0.08531	N	0.932044	T	0.38134	0.1029	L	0.55481	1.735	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.22487	-1.0215	10	0.31617	T	0.26	.	8.4038	0.32603	0.0969:0.6591:0.1723:0.0718	.	320	O60603	TLR2_HUMAN	S	320	ENSP00000260010:P320S	ENSP00000260010:P320S	P	+	1	0	TLR2	154844467	0.000000	0.05858	0.033000	0.17914	0.002000	0.02628	0.533000	0.23082	1.581000	0.49865	-0.140000	0.14226	CCA		0.348	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			T	154625017	C	T	154625017	3	4	307	1	0	0	0	0	1	0	0	0	15956	855	30	2	960	2	TLR2	4	154625017	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	14333492	154625017	36529259	35	18343											
FNIP2	57600	hgsc.bcm.edu	37	4	159816926	159816926	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr4:159816926C>G	ENST00000264433.6	+	16	3250	c.3175C>G	c.(3175-3177)Cta>Gta	p.L1059V	C4orf45_ENST00000508011.1_Intron|C4orf45_ENST00000434826.2_Intron|FNIP2_ENST00000379346.3_Missense_Mutation_p.L1082V	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	1059					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TGAAGATAGACTACAGGAGAT	0.403																																																0													118	117	117					4																	159816926		1907	4124	6031	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.3175C>G	chr4.hg19:g.159816926C>G	ENSP00000264433:p.Leu1059Val		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	hg19	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094483	0.76870	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.60797	0.16;0.16	5.49	3.74	0.42951	.	0.074626	0.56097	D	0.000035	T	0.77089	0.4079	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80446	-0.1379	9	.	.	.	.	12.08	0.53665	0.0:0.8584:0.0:0.1416	.	1059	Q9P278	FNIP2_HUMAN	V	1059;1082	ENSP00000264433:L1059V;ENSP00000368651:L1082V	.	L	+	1	2	FNIP2	160036376	1.000000	0.71417	0.946000	0.38457	0.996000	0.88848	4.894000	0.63206	1.333000	0.45449	0.591000	0.81541	CTA		0.403	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		G	159816926	C	G	159816926	3	3	307	1	0	0	0	0	1	0	0	0	5978	564	20	4	3237	4	FNIP2	4	159816926	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	5191909	159816926	31337350	36	18344											
UGT3A2	167127	hgsc.bcm.edu	37	5	36049438	36049439	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr5:36049438_36049439delAT	ENST00000282507.3	-	4	496_497	c.395_396delAT	c.(394-396)gatfs	p.D132fs	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Frame_Shift_Del_p.D98fs|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	132					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTTTAAGGAATCCATGATATC	0.351																																																0																																										SO:0001589	frameshift_variant	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.395_396delAT	chr5.hg19:g.36049438_36049439delAT	ENSP00000282507:p.Asp132fs		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Frame_Shift_Del	DEL	ENST00000282507.3	hg19	CCDS3914.1																																																																																				0.351	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		-	36049439	AT	-	36049438	7	5	307	1	0	1	0	1	0	0	0	0	16969	98	4	0	1191	0	UGT3A2	5	36049438	Frame_Shift_Del	DEL	AT	TCGA-B9-A8YI-01A-21D-A36X-10		36049438	144865822	37	18345											
C5orf36	285600	hgsc.bcm.edu	37	5	93722048	93722048	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr5:93722048C>T	ENST00000513200.3	-	18	3590	c.3518G>A	c.(3517-3519)cGa>cAa	p.R1173Q	KIAA0825_ENST00000427991.2_Missense_Mutation_p.R1173Q	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	1173										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						CTTTAAAGGTCGGATGGGTAA	0.383																																																0													160	139	145					5																	93722048		692	1591	2283	SO:0001583	missense	285600			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.3518G>A	chr5.hg19:g.93722048C>T	ENSP00000424618:p.Arg1173Gln		O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000513200.3	hg19		.	.	.	.	.	.	.	.	.	.	C	12.03	1.814698	0.32053	.	.	ENSG00000185261	ENST00000513200;ENST00000427991	T;T	0.42900	0.96;0.96	5.97	-1.74	0.08056	.	.	.	.	.	T	0.25269	0.0614	L	0.28740	0.885	0.26413	N	0.976228	B;B	0.22346	0.03;0.068	B;B	0.15052	0.012;0.007	T	0.17471	-1.0368	9	0.27082	T	0.32	2.5431	6.6098	0.22745	0.0:0.3608:0.2184:0.4208	.	1173;1173	Q8IV33;C9J0Q2	K0825_HUMAN;.	Q	1173	ENSP00000424618:R1173Q;ENSP00000400288:R1173Q	ENSP00000400288:R1173Q	R	-	2	0	KIAA0825	93747804	0.011000	0.17503	0.425000	0.26659	0.952000	0.60782	-0.055000	0.11807	-0.732000	0.04856	-0.142000	0.14014	CGA		0.383	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665		T	93722048	C	T	93722048	3	4	307	1	0	0	0	0	1	0	0	0	2297	884	31	1	321	1	C5orf36	5	93722048	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	57672610	93722048	87193212	38	18346											
CSF1R	1436	hgsc.bcm.edu	37	5	149449790	149449790	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr5:149449790G>A	ENST00000286301.3	-	9	1565	c.1274C>T	c.(1273-1275)cCc>cTc	p.P425L		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	425	Ig-like C2-type 5.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTTGGGCTGGGGGTACCCAGA	0.607																																																0													76	72	73					5																	149449790		2203	4300	6503	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1274C>T	chr5.hg19:g.149449790G>A	ENSP00000286301:p.Pro425Leu		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	hg19	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658484	0.88154	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.61392	0.11	5.89	5.89	0.94794	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000032	T	0.78201	0.4246	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80585	-0.1317	10	0.87932	D	0	.	15.7567	0.78037	0.0:0.0:1.0:0.0	.	277;425	B4E2Y8;P07333	.;CSF1R_HUMAN	L	425;277	ENSP00000286301:P425L	ENSP00000286301:P425L	P	-	2	0	CSF1R	149429983	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.043000	0.64208	2.793000	0.96121	0.561000	0.74099	CCC		0.607	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		A	149449790	G	A	149449790	3	1	307	1	0	0	0	0	1	0	0	0	3934	1232	43	2	1700	2	CSF1R	5	149449790	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	55727742	149449790	31465470	39	18347											
GABRB2	2561	hgsc.bcm.edu	37	5	160763641	160763641	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr5:160763641G>T	ENST00000393959.1	-	6	676	c.677C>A	c.(676-678)aCa>aAa	p.T226K	GABRB2_ENST00000520240.1_Missense_Mutation_p.T226K|GABRB2_ENST00000274547.2_Missense_Mutation_p.T226K|GABRB2_ENST00000353437.6_Missense_Mutation_p.T226K|GABRB2_ENST00000517901.1_Missense_Mutation_p.T163K|GABRB2_ENST00000517547.1_Missense_Mutation_p.T66K			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	226					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATACAAACCTGTGGAAAAAAC	0.368																																																0													86	87	87					5																	160763641		2202	4300	6502	SO:0001583	missense	2561				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.677C>A	chr5.hg19:g.160763641G>T	ENSP00000377531:p.Thr226Lys		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	hg19	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128847	0.94473	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.47	5.47	0.80525	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	M	0.88105	2.93	0.80722	D	1	D;P;D;D	0.89917	1.0;0.952;0.984;0.989	D;D;D;D	0.87578	0.998;0.969;0.969;0.962	D	0.91866	0.5503	10	0.87932	D	0	.	19.3443	0.94357	0.0:0.0:1.0:0.0	.	66;163;226;226	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	K	226;226;226;226;163;66	ENSP00000377531:T226K;ENSP00000274547:T226K;ENSP00000274546:T226K;ENSP00000429320:T226K;ENSP00000430532:T163K;ENSP00000429750:T66K	ENSP00000274547:T226K	T	-	2	0	GABRB2	160696219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.638000	0.98445	2.561000	0.86390	0.655000	0.94253	ACA		0.368	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			T	160763641	G	T	160763641	3	4	307	1	0	0	0	0	1	0	0	0	6169	1377	48	4	881	4	GABRB2	5	160763641	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	11313851	160763641	20151619	40	18348											
RGS14	10636	hgsc.bcm.edu	37	5	176799074	176799074	+	Nonstop_Mutation	SNP	T	T	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr5:176799074T>C	ENST00000408923.3	+	15	1887	c.1699T>C	c.(1699-1701)Tga>Cga	p.*567R	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	0					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCAGCCCTCTGACAGCTACC	0.657																																					NSCLC(47;353 1896 28036)											0													74	88	83					5																	176799074		2092	4193	6285	SO:0001578	stop_lost	10636			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1699T>C	chr5.hg19:g.176799074T>C	ENSP00000386229:p.*567Argext*163		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	hg19	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	T	9.365	1.069109	0.20147	.	.	ENSG00000169220	ENST00000408923;ENST00000336477	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2366	0.37470	0.0:0.0:0.2464:0.7536	.	.	.	.	R	567;348	.	.	X	+	1	0	RGS14	176731680	0.997000	0.39634	1.000000	0.80357	0.194000	0.23727	0.357000	0.20199	1.999000	0.58509	0.454000	0.30748	TGA		0.657	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		C	176799074	T	C	176799074	4	2	307	1	0	0	0	0	0	0	0	0	13303	1593	55	3	1757	3	RGS14	5	176799074	Nonstop_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	16035433	176799074	4116186	41	18349											
DPCR1	135656	hgsc.bcm.edu	37	6	30917945	30917945	+	Silent	SNP	G	G	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr6:30917945G>A	ENST00000462446.1	+	2	1732	c.1704G>A	c.(1702-1704)ttG>ttA	p.L568L	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	120						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GGACTCCTTTGGCCAATGAGA	0.502																																																0													65	64	64					6																	30917945		692	1591	2283	SO:0001819	synonymous_variant	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1704G>A	chr6.hg19:g.30917945G>A			C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	hg19	CCDS4692.2																																																																																				0.502	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		A	30917945	G	A	30917945	2	1	307	1	0	0	0	0	0	0	0	1	4714	1339	47	2		2	DPCR1	6	30917945	Silent	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10		30917945	140197122	42	18350											
FKBP5	2289	hgsc.bcm.edu	37	6	35604801	35604826	+	Frame_Shift_Del	DEL	ACTAAAGACAAATGGTTCATTTCTAT	ACTAAAGACAAATGGTTCATTTCTAT	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	ACTAAAGACAAATGGTTCATTTCTAT	ACTAAAGACAAATGGTTCATTTCTAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr6:35604801_35604826delACTAAAGACAAATGGTTCATTTCTAT	ENST00000539068.1	-	3	417_442	c.215_240delATAGAAATGAACCATTTGTCTTTAGT	c.(214-240)gatagaaatgaaccatttgtctttagtfs	p.DRNEPFVFS72fs	FKBP5_ENST00000357266.4_Frame_Shift_Del_p.DRNEPFVFS72fs|FKBP5_ENST00000542713.1_Frame_Shift_Del_p.DRNEPFVFS72fs|FKBP5_ENST00000536438.1_Frame_Shift_Del_p.DRNEPFVFS72fs|FKBP5_ENST00000540787.1_Intron	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	72	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTTTGCCAAGACTAAAGACAAATGGTTCATTTCTATCATGACTGGA	0.345																																																0																																										SO:0001589	frameshift_variant	2289			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"Tetratricopeptide (TTC) repeat domain containing"	3721	protein-coding gene	gene with protein product		602623	"FK506-binding protein 5"			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.215_240delATAGAAATGAACCATTTGTCTTTAGT	chr6.hg19:g.35604801_35604826delACTAAAGACAAATGGTTCATTTCTAT	ENSP00000441205:p.Asp72fs		F5H7R1|Q59EB8|Q5TGM6	Frame_Shift_Del	DEL	ENST00000539068.1	hg19	CCDS4808.1																																																																																				0.345	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			-	35604826	ACTAAAGACAAATGGTTCATTTCTAT	-	35604801	7	5	307	1	0	1	0	1	0	0	0	0	5913	272	10	0	1227	0	FKBP5	6	35604801	Frame_Shift_Del	DEL	ACTAAAGACAAATGGTTCATTTCTAT	TCGA-B9-A8YI-01A-21D-A36X-10	4686856	35604801	135510266	43	18351											
CRISP2	7180	hgsc.bcm.edu	37	6	49668403	49668403	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr6:49668403G>A	ENST00000339139.4	-	5	397	c.161C>T	c.(160-162)cCt>cTt	p.P54L		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	54	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GTTACTGGCAGGTGGAGAGAC	0.468																																																0													108	91	97					6																	49668403		2203	4299	6502	SO:0001583	missense	7180			X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.161C>T	chr6.hg19:g.49668403G>A	ENSP00000339155:p.Pro54Leu		A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	hg19	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315527	0.40996	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.13196	2.61	5.23	4.36	0.52297	CAP domain (3);	0.666605	0.15704	N	0.248777	T	0.14141	0.0342	M	0.85299	2.745	0.38730	D	0.953655	B;B	0.23650	0.089;0.049	B;B	0.33254	0.109;0.16	T	0.02132	-1.1208	10	0.66056	D	0.02	.	11.5043	0.50456	0.0864:0.0:0.9136:0.0	.	54;54	Q7Z7B2;P16562	.;CRIS2_HUMAN	L	54	ENSP00000339155:P54L	ENSP00000211238:P54L	P	-	2	0	CRISP2	49776362	0.998000	0.40836	0.969000	0.41365	0.801000	0.45260	2.993000	0.49425	1.441000	0.47550	-0.225000	0.12378	CCT		0.468	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		A	49668403	G	A	49668403	3	1	307	1	0	0	0	0	1	0	0	0	3882	1000	35	2	594	2	CRISP2	6	49668403	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	14063602	49668403	121446664	44	18352											
C6orf150	115004	hgsc.bcm.edu	37	6	74149944	74149944	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr6:74149944T>G	ENST00000370315.3	-	3	1196	c.1102A>C	c.(1102-1104)Aat>Cat	p.N368H	MB21D1_ENST00000370318.1_Missense_Mutation_p.N368H	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	368					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						TGGAAACCATTTCCTTCCTTT	0.363																																																0													64	62	62					6																	74149944		2203	4300	6503	SO:0001583	missense	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1102A>C	chr6.hg19:g.74149944T>G	ENSP00000359339:p.Asn368His		L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	ENST00000370315.3	hg19	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572058	0.45798	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	T;T	0.08370	3.1;3.1	5.35	-0.905	0.10527	.	0.884083	0.09786	N	0.755980	T	0.07773	0.0195	L	0.48362	1.52	0.25017	N	0.991369	D	0.67145	0.996	D	0.66847	0.947	T	0.21449	-1.0245	10	0.62326	D	0.03	-6.9955	6.3604	0.21425	0.0:0.1059:0.4453:0.4488	.	368	Q8N884	M21D1_HUMAN	H	368	ENSP00000359342:N368H;ENSP00000359339:N368H	ENSP00000296913:N368H	N	-	1	0	MB21D1	74206665	0.590000	0.26815	0.251000	0.24312	0.771000	0.43674	0.625000	0.24477	-0.053000	0.13289	0.374000	0.22700	AAT		0.363	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		G	74149944	T	G	74149944	3	3	307	1	0	0	0	0	1	0	0	0	2339	1841	64	5	478	5	C6orf150	6	74149944	Missense_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	24481541	74149944	96965123	45	18353											
SHPRH	257218	hgsc.bcm.edu	37	6	146215295	146215296	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr6:146215295_146215296insT	ENST00000367505.2	-	27	4949_4950	c.4685_4686insA	c.(4684-4686)aagfs	p.K1562fs	SHPRH_ENST00000438092.2_Frame_Shift_Ins_p.K1566fs|SHPRH_ENST00000275233.7_Frame_Shift_Ins_p.K1562fs|SHPRH_ENST00000367503.3_Frame_Shift_Ins_p.K1566fs			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1562	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCTGAAATGTCTTAACACGACT	0.317																																																0																																										SO:0001589	frameshift_variant	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4686dupA	chr6.hg19:g.146215297_146215297dupT	ENSP00000356475:p.Lys1562fs		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Frame_Shift_Ins	INS	ENST00000367505.2	hg19	CCDS43513.2																																																																																				0.317	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		T	146215296	-	T	146215295	7	5	307	1	0	1	1	0	0	0	0	0	14297	912	32	0	398	0	SHPRH	6	146215295	Frame_Shift_Ins	INS	-	TCGA-B9-A8YI-01A-21D-A36X-10	72065351	146215295	24899772	46	18354											
SASH1	23328	hgsc.bcm.edu	37	6	148855991	148855991	+	Silent	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr6:148855991C>T	ENST00000367467.3	+	16	2524	c.2049C>T	c.(2047-2049)caC>caT	p.H683H		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	683	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ACCCGGAACACAGAGCTGTTC	0.493																																																0													109	105	106					6																	148855991		2203	4300	6503	SO:0001819	synonymous_variant	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2049C>T	chr6.hg19:g.148855991C>T			Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	hg19	CCDS5212.1																																																																																				0.493	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		T	148855991	C	T	148855991	2	4	307	1	0	0	0	0	0	0	0	1	13854	477	17	2		2	SASH1	6	148855991	Silent	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	2640696	148855991	22259076	47	18355											
SYNE1	23345	hgsc.bcm.edu	37	6	152473219	152473219	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr6:152473219A>G	ENST00000367255.5	-	134	24788	c.24187T>C	c.(24187-24189)Tac>Cac	p.Y8063H	SYNE1_ENST00000448038.1_Missense_Mutation_p.Y7992H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.Y2587H|SYNE1_ENST00000354674.4_Missense_Mutation_p.Y218H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Y8063H|SYNE1_ENST00000539504.1_Missense_Mutation_p.Y218H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Y7675H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Y7992H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8063					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCGGCGGTACTGCTTGTTG	0.542										HNSCC(10;0.0054)																																						0													109	86	94					6																	152473219		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24187T>C	chr6.hg19:g.152473219A>G	ENSP00000356224:p.Tyr8063His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	33	5.209411	0.95069	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.34667	1.37;1.35;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.35	5.96	5.96	0.96718	.	0.000000	0.50627	D	0.000110	T	0.56630	0.1998	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.996	T	0.62798	-0.6778	10	0.66056	D	0.02	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	8063;8063;7992;7992;265	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8063;218;709;7992;8063;7992;7675;2587;225;220;985;218	ENSP00000356224:Y8063H;ENSP00000441052:Y218H;ENSP00000356226:Y709H;ENSP00000396024:Y7992H;ENSP00000265368:Y8063H;ENSP00000390975:Y7992H;ENSP00000341887:Y7675H;ENSP00000349276:Y2587H;ENSP00000356220:Y985H;ENSP00000346701:Y218H	ENSP00000265368:Y8063H	Y	-	1	0	SYNE1	152514912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.108000	0.94275	2.284000	0.76573	0.528000	0.53228	TAC		0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152473219	A	G	152473219	3	3	307	1	0	0	0	0	1	0	0	0	15450	391	14	3	2331	3	SYNE1	6	152473219	Missense_Mutation	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	3617228	152473219	18641848	48	18356											
ARID1B	57492	hgsc.bcm.edu	37	6	157099429	157099429	+	Silent	SNP	G	G	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr6:157099429G>A	ENST00000350026.5	+	1	367	c.366G>A	c.(364-366)caG>caA	p.Q122Q	ARID1B_ENST00000275248.4_Silent_p.Q64Q|ARID1B_ENST00000346085.5_Silent_p.Q122Q|ARID1B_ENST00000367148.1_Silent_p.Q122Q|RP11-230C9.3_ENST00000604792.1_RNA|RP11-230C9.2_ENST00000603191.1_lincRNA|MIR4466_ENST00000606121.1_RNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	122	Gln-rich.|Poly-Gln.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		agcagcaacagcagcagcagc	0.647																																																0													4	7	6					6																	157099429		1651	3290	4941	SO:0001819	synonymous_variant	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.366G>A	chr6.hg19:g.157099429G>A			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	hg19	CCDS5251.2																																																																																				0.647	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		A	157099429	G	A	157099429	2	1	307	1	0	0	0	0	0	0	0	1	914	962	34	2		2	ARID1B	6	157099429	Silent	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	4626210	157099429	14015638	49	18357											
IGF2R	3482	hgsc.bcm.edu	37	6	160466824	160466824	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr6:160466824T>A	ENST00000356956.1	+	14	1961	c.1813T>A	c.(1813-1815)Tgc>Agc	p.C605S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	605					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GGAAGGCGGTTGCTTTTATGA	0.502																																																0													173	183	180					6																	160466824		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1813T>A	chr6.hg19:g.160466824T>A	ENSP00000349437:p.Cys605Ser		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.688195	0.88639	.	.	ENSG00000197081	ENST00000356956	T	0.15834	2.39	5.67	5.67	0.87782	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58853	-0.7563	10	0.62326	D	0.03	-13.6324	15.9212	0.79575	0.0:0.0:0.0:1.0	.	605	P11717	MPRI_HUMAN	S	605	ENSP00000349437:C605S	ENSP00000349437:C605S	C	+	1	0	IGF2R	160386814	1.000000	0.71417	0.996000	0.52242	0.789000	0.44602	7.637000	0.83313	2.155000	0.67459	0.460000	0.39030	TGC		0.502	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		A	160466824	T	A	160466824	3	1	307	1	0	0	0	0	1	0	0	0	7578	1812	63	5	1867	5	IGF2R	6	160466824	Missense_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	3367395	160466824	10648243	50	18358											
ITGB8	3696	hgsc.bcm.edu	37	7	20418715	20418715	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr7:20418715A>C	ENST00000222573.4	+	4	1114	c.430A>C	c.(430-432)Aaa>Caa	p.K144Q	ITGB8_ENST00000537992.1_Missense_Mutation_p.K9Q|SNORD56_ENST00000363883.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	144					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCCTCTGAAGAAATATCCTGT	0.308																																																0													70	81	77					7																	20418715		2193	4298	6491	SO:0001583	missense	3696				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.430A>C	chr7.hg19:g.20418715A>C	ENSP00000222573:p.Lys144Gln		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	hg19	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.410153	0.42715	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.92495	-3.05;-3.05	5.42	4.25	0.50352	Integrin beta subunit, N-terminal (2);	0.067674	0.64402	N	0.000011	D	0.89097	0.6618	L	0.47716	1.5	0.35175	D	0.771931	B;B	0.10296	0.001;0.003	B;B	0.19666	0.014;0.026	D	0.88226	0.2900	10	0.66056	D	0.02	-20.749	12.8016	0.57588	0.863:0.137:0.0:0.0	.	144;144	P26012;Q9BUG9	ITB8_HUMAN;.	Q	9;144	ENSP00000441561:K9Q;ENSP00000222573:K144Q	ENSP00000222573:K144Q	K	+	1	0	ITGB8	20385240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.942000	0.49018	0.972000	0.38314	0.528000	0.53228	AAA		0.308	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		C	20418715	A	C	20418715	3	2	307	1	0	0	0	0	1	0	0	0	7903	247	9	5	444	5	ITGB8	7	20418715	Missense_Mutation	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10		20418715	138719948	51	18359											
HOXA10	3206	hgsc.bcm.edu	37	7	27211696	27211696	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr7:27211696T>C	ENST00000283921.4	-	2	1054	c.1055A>G	c.(1054-1056)gAg>gGg	p.E352G	HOXA10_ENST00000396344.4_Missense_Mutation_p.E36G|HOXA-AS4_ENST00000519694.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|MIR196B_ENST00000384852.1_RNA|HOXA-AS4_ENST00000523790.1_RNA|HOXA10_ENST00000521421.1_5'UTR|HOXA-AS4_ENST00000519935.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_5'Flank	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	352					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						AAACTCCTTCTCCAGCTCCAG	0.537																																																0													110	105	107					7																	27211696		2203	4300	6503	SO:0001583	missense	3206				CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"Homeoboxes / ANTP class : HOXL subclass"	5100	protein-coding gene	gene with protein product		142957	"homeo box A10"	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.1055A>G	chr7.hg19:g.27211696T>C	ENSP00000283921:p.Glu352Gly		O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	hg19	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191945	0.78902	.	.	ENSG00000253293	ENST00000283921;ENST00000396344	D;D	0.97831	-4.56;-4.56	5.7	5.7	0.88788	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	H	0.97587	4.035	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98858	1.0761	10	0.87932	D	0	.	15.9644	0.79956	0.0:0.0:0.0:1.0	.	352;36	P31260;Q504T1	HXA10_HUMAN;.	G	352;36	ENSP00000283921:E352G;ENSP00000379633:E36G	ENSP00000283921:E352G	E	-	2	0	HOXA10	27178221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.172000	0.68678	0.460000	0.39030	GAG		0.537	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			C	27211696	T	C	27211696	3	2	307	1	0	0	0	0	1	0	0	0	7291	1551	54	3	181	3	HOXA10	7	27211696	Missense_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	6792981	27211696	131926967	52	18360											
ABCA13	154664	hgsc.bcm.edu	37	7	48317949	48317949	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr7:48317949C>A	ENST00000435803.1	+	18	7182	c.7158C>A	c.(7156-7158)ttC>ttA	p.F2386L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2386					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGACTTTTTCACAGTGGTGA	0.358																																																0													35	34	35					7																	48317949		1817	4072	5889	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7158C>A	chr7.hg19:g.48317949C>A	ENSP00000411096:p.Phe2386Leu		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	1.034	-0.680960	0.03353	.	.	ENSG00000179869	ENST00000435803	T	0.49720	0.77	4.99	-2.02	0.07388	.	0.495153	0.16799	N	0.199073	T	0.21631	0.0521	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29088	-1.0023	10	0.08179	T	0.78	.	9.2681	0.37654	0.0:0.4592:0.0:0.5408	.	2386	Q86UQ4	ABCAD_HUMAN	L	2386	ENSP00000411096:F2386L	ENSP00000411096:F2386L	F	+	3	2	ABCA13	48288495	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.668000	0.05268	-0.566000	0.06054	-0.140000	0.14226	TTC		0.358	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48317949	C	A	48317949	3	1	307	1	0	0	0	0	1	0	0	0	31	825	29	4	7057	4	ABCA13	7	48317949	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	21106253	48317949	110820714	53	18361											
CLDN3	1365	hgsc.bcm.edu	37	7	73184246	73184246	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr7:73184246A>G	ENST00000395145.2	-	1	354	c.134T>C	c.(133-135)aTc>aCc	p.I45T		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	45					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				GCCCTCCCAGATGTTCTGCGA	0.642																																																0													76	65	69					7																	73184246		2203	4300	6503	SO:0001583	missense	1365			AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"Claudins"	2045	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 2", "ventral prostate.1-like protein", "claudin-3", "CPE-receptor 2"	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.134T>C	chr7.hg19:g.73184246A>G	ENSP00000378577:p.Ile45Thr			Missense_Mutation	SNP	ENST00000395145.2	hg19	CCDS5559.1	.	.	.	.	.	.	.	.	.	.	A	7.850	0.723712	0.15439	.	.	ENSG00000165215	ENST00000395145	D	0.88354	-2.37	4.83	-3.28	0.05033	.	0.255462	0.36740	N	0.002431	T	0.81678	0.4873	L	0.52573	1.65	0.26410	N	0.976288	B	0.06786	0.001	B	0.15052	0.012	T	0.65459	-0.6163	10	0.20046	T	0.44	.	11.5454	0.50690	0.8061:0.0:0.1939:0.0	.	45	O15551	CLD3_HUMAN	T	45	ENSP00000378577:I45T	ENSP00000378577:I45T	I	-	2	0	CLDN3	72822182	0.005000	0.15991	0.951000	0.38953	0.520000	0.34377	-0.052000	0.11865	-0.606000	0.05746	-0.375000	0.07067	ATC		0.642	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		G	73184246	A	G	73184246	3	3	307	1	0	0	0	0	1	0	0	0	3488	333	12	3	532	3	CLDN3	7	73184246	Missense_Mutation	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	24866297	73184246	85954417	54	18362											
ZNF804B	219578	hgsc.bcm.edu	37	7	88964261	88964261	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr7:88964261C>G	ENST00000333190.4	+	4	2574	c.1965C>G	c.(1963-1965)aaC>aaG	p.N655K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	655							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GACAATTCAACTGCAAGTCCA	0.408										HNSCC(36;0.09)																																						0													102	95	97					7																	88964261		2203	4300	6503	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1965C>G	chr7.hg19:g.88964261C>G	ENSP00000329638:p.Asn655Lys		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	hg19	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	2.059	-0.415957	0.04766	.	.	ENSG00000182348	ENST00000333190	T	0.04603	3.59	5.48	-2.51	0.06365	.	0.797440	0.11763	N	0.531868	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46034	-0.9220	10	0.05525	T	0.97	-1.7321	3.2285	0.06740	0.1081:0.35:0.1062:0.4357	.	655	A4D1E1	Z804B_HUMAN	K	655	ENSP00000329638:N655K	ENSP00000329638:N655K	N	+	3	2	ZNF804B	88802197	0.000000	0.05858	0.021000	0.16686	0.022000	0.10575	-1.055000	0.03493	-0.334000	0.08463	0.650000	0.86243	AAC		0.408	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		G	88964261	C	G	88964261	3	3	307	1	0	0	0	0	1	0	0	0	18176	564	20	4	1979	4	ZNF804B	7	88964261	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	15780015	88964261	70174402	55	18363											
ZNF3	7551	hgsc.bcm.edu	37	7	99674930	99674930	+	Silent	SNP	G	G	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr7:99674930G>A	ENST00000424697.1	-	3	357	c.51C>T	c.(49-51)gaC>gaT	p.D17D	ZNF3_ENST00000303915.6_Silent_p.D17D|ZNF3_ENST00000413658.2_Silent_p.D17D|ZNF3_ENST00000299667.4_Silent_p.D17D	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	17					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCTCACCACTGTCAAGCAGGG	0.488																																																0													143	147	146					7																	99674930		1992	4179	6171	SO:0001819	synonymous_variant	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.51C>T	chr7.hg19:g.99674930G>A			D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Silent	SNP	ENST00000424697.1	hg19	CCDS43619.1																																																																																				0.488	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		A	99674930	G	A	99674930	2	1	307	1	0	0	0	0	0	0	0	1	17834	1368	48	2		2	ZNF3	7	99674930	Silent	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	10710669	99674930	59463733	56	18364											
ATXN7L1	222255	hgsc.bcm.edu	37	7	105516974	105516974	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr7:105516974G>C	ENST00000419735.3	-	1	76	c.31C>G	c.(31-33)Ctc>Gtc	p.L11V	ATXN7L1_ENST00000478915.1_5'Flank|ATXN7L1_ENST00000318724.4_Missense_Mutation_p.L11V	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	11										endometrium(1)|large_intestine(4)|lung(5)	10						GCAGCCGAGAGACACGGGATT	0.587																																																0													73	64	67					7																	105516974		2203	4300	6503	SO:0001583	missense	222255			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.31C>G	chr7.hg19:g.105516974G>C	ENSP00000410759:p.Leu11Val		A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	ENST00000419735.3	hg19	CCDS47682.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475744	0.44044	.	.	ENSG00000146776	ENST00000419735;ENST00000318724	T	0.16597	2.33	4.77	4.77	0.60923	.	.	.	.	.	T	0.17492	0.0420	L	0.36672	1.1	0.80722	D	1	P;P	0.41673	0.728;0.759	B;B	0.38500	0.275;0.259	T	0.03443	-1.1036	9	0.72032	D	0.01	.	18.1766	0.89764	0.0:0.0:1.0:0.0	.	11;11	A4D0Q2;Q9ULK2	.;AT7L1_HUMAN	V	11	ENSP00000410759:L11V	ENSP00000326344:L11V	L	-	1	0	ATXN7L1	105304210	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.485000	0.60279	2.342000	0.79632	0.555000	0.69702	CTC		0.587	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			C	105516974	G	C	105516974	3	2	307	1	0	0	0	0	1	0	0	0	1216	942	33	4	2695	4	ATXN7L1	7	105516974	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	5842044	105516974	53621689	57	18365											
ARHGEF5	7984	hgsc.bcm.edu	37	7	144062673	144062673	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr7:144062673delA	ENST00000056217.5	+	2	3085	c.2911delA	c.(2911-2913)acafs	p.T972fs	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	972					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTTGAGAAGGACAACCCCTCA	0.612																																																0													1	1	1					7																	144062673		462	1119	1581	SO:0001589	frameshift_variant	7984			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2911delA	chr7.hg19:g.144062673delA	ENSP00000056217:p.Thr972fs		A6NNJ2|Q6ZML7	Frame_Shift_Del	DEL	ENST00000056217.5	hg19	CCDS34771.1																																																																																				0.612	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		-	144062673	A	-	144062673	7	5	307	1	0	1	0	1	0	0	0	0	909	275	10	0	2913	0	ARHGEF5	7	144062673	Frame_Shift_Del	DEL	A	TCGA-B9-A8YI-01A-21D-A36X-10	38545699	144062673	15075990	58	18366											
MLL3	58508	hgsc.bcm.edu	37	7	151874116	151874116	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr7:151874116C>T	ENST00000262189.6	-	38	8640	c.8422G>A	c.(8422-8424)Gat>Aat	p.D2808N	KMT2C_ENST00000355193.2_Missense_Mutation_p.D2808N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2808					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAATGTTTATCAGAGAGAACC	0.348																																																0													149	143	145					7																	151874116		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8422G>A	chr7.hg19:g.151874116C>T	ENSP00000262189:p.Asp2808Asn		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	hg19	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605994	0.28623	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85339	-1.97;-1.96	5.58	3.75	0.43078	.	0.136399	0.32578	N	0.005917	T	0.81187	0.4770	L	0.29908	0.895	0.20196	N	0.999929	P;D;B	0.56521	0.682;0.976;0.302	B;P;B	0.51701	0.326;0.677;0.08	T	0.72717	-0.4209	10	0.72032	D	0.01	.	7.3772	0.26835	0.0:0.7163:0.1392:0.1445	.	2808;1869;2808	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	N	2808	ENSP00000262189:D2808N;ENSP00000347325:D2808N	ENSP00000262189:D2808N	D	-	1	0	MLL3	151505049	0.517000	0.26226	0.044000	0.18714	0.763000	0.43281	2.280000	0.43443	0.692000	0.31613	0.650000	0.86243	GAT		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151874116	C	T	151874116	3	4	307	1	0	0	0	0	1	0	0	0	9624	826	29	2	6401	2	MLL3	7	151874116	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	7811443	151874116	7264547	59	18367											
TNKS	8658	hgsc.bcm.edu	37	8	9564428	9564428	+	Silent	SNP	T	T	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr8:9564428T>C	ENST00000310430.6	+	8	1403	c.1377T>C	c.(1375-1377)gcT>gcC	p.A459A	TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Silent_p.A459A|TNKS_ENST00000518281.1_Silent_p.A222A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	459					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GCCATGGCGCTGATCCTACAT	0.473																																																0													104	88	94					8																	9564428		2203	4300	6503	SO:0001819	synonymous_variant	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1377T>C	chr8.hg19:g.9564428T>C			O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	hg19	CCDS5974.1																																																																																				0.473	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		C	9564428	T	C	9564428	2	2	307	1	0	0	0	0	0	0	0	1	16324	1567	55	3		3	TNKS	8	9564428	Silent	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10		9564428	136799594	60	18368											
B4GALT1	2683	hgsc.bcm.edu	37	9	33167143	33167148	+	In_Frame_Del	DEL	TCAGGA	TCAGGA	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	TCAGGA	TCAGGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr9:33167143_33167148delTCAGGA	ENST00000379731.4	-	1	206_211	c.20_25delTCCTGA	c.(19-27)ctcctgagc>cgc	p.7_9LLS>R	B4GALT1_ENST00000535206.1_In_Frame_Del_p.7_9LLS>R|RP11-326F20.5_ENST00000426270.1_RNA|RP11-326F20.5_ENST00000442432.1_RNA	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	7					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GCGCTGCCGCTCAGGAGCGGCTCCCG	0.723																																																0																																										SO:0001651	inframe_deletion	2683			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"Beta 4-glycosyltransferases"	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.20_25delTCCTGA	chr9.hg19:g.33167143_33167148delTCAGGA	ENSP00000369055:p.Leu7_Ser9delinsArg		B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	In_Frame_Del	DEL	ENST00000379731.4	hg19	CCDS6535.1																																																																																				0.723	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497		-	33167148	TCAGGA	-	33167143	7	5	307	1	0	1	0	1	0	0	0	0	1270	1551	54	0	1195	0	B4GALT1	9	33167143	In_Frame_Del	DEL	TCAGGA	TCGA-B9-A8YI-01A-21D-A36X-10		33167143	108046288	61	18369	146	2									
B4GALT1	2683	hgsc.bcm.edu	37	9	33167151	33167151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr9:33167151delG	ENST00000379731.4	-	1	203	c.17delC	c.(16-18)ccgfs	p.P6fs	B4GALT1_ENST00000535206.1_Frame_Shift_Del_p.P6fs|RP11-326F20.5_ENST00000426270.1_RNA|RP11-326F20.5_ENST00000442432.1_RNA	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	6					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GCTCAGGAGCGGCTCCCGAAG	0.736																																																0													6	10	9					9																	33167151		1694	3514	5208	SO:0001589	frameshift_variant	2683			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"Beta 4-glycosyltransferases"	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.17delC	chr9.hg19:g.33167151delG	ENSP00000369055:p.Pro6fs		B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Frame_Shift_Del	DEL	ENST00000379731.4	hg19	CCDS6535.1																																																																																				0.736	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497		-	33167151	G	-	33167151	7	5	307	1	0	1	0	1	0	0	0	0	1270	1116	39	0	1203	0	B4GALT1	9	33167151	Frame_Shift_Del	DEL	G	TCGA-B9-A8YI-01A-21D-A36X-10	8	33167151	108046280	62	18370	146	2									
DPP7	29952	hgsc.bcm.edu	37	9	140009153	140009153	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr9:140009153G>C	ENST00000371579.2	-	1	17	c.13C>G	c.(13-15)Ccc>Gcc	p.P5A		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	5						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GGGGCCCAGGGAGCGGAGCCC	0.811																																																0													1	1	1					9																	140009153		699	1539	2238	SO:0001583	missense	29952			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"dipeptidylpeptidase 7"			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.13C>G	chr9.hg19:g.140009153G>C	ENSP00000360635:p.Pro5Ala		A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	hg19	CCDS7030.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260209	0.23051	.	.	ENSG00000176978	ENST00000371579;ENST00000443858	T	0.12465	2.68	2.39	0.47	0.16747	.	1.637370	0.03575	N	0.229169	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	B;B	0.19331	0.002;0.035	B;B	0.08055	0.002;0.003	T	0.33624	-0.9861	10	0.16896	T	0.51	.	5.9139	0.19043	0.1339:0.1986:0.6675:0.0	.	5;5	E7EQS4;Q9UHL4	.;DPP2_HUMAN	A	5	ENSP00000360635:P5A	ENSP00000360635:P5A	P	-	1	0	DPP7	139128974	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.158000	0.03153	-0.164000	0.10927	-1.961000	0.00478	CCC		0.811	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		C	140009153	G	C	140009153	3	2	307	1	0	0	0	0	1	0	0	0	4733	1174	41	4	1517	4	DPP7	9	140009153	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	106842002	140009153	1204278	63	18371											
PNPLA7	375775	hgsc.bcm.edu	37	9	140354898	140354898	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr9:140354898G>T	ENST00000277531.4	-	34	4087	c.3901C>A	c.(3901-3903)Ccc>Acc	p.P1301T	PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000339554.3_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000265663.7_5'Flank|PNPLA7_ENST00000406427.1_Missense_Mutation_p.P1326T|NSMF_ENST00000371475.3_5'Flank|PNPLA7_ENST00000371457.1_Missense_Mutation_p.P907T	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1301					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCAGACTGGGGTGTCGATGC	0.627																																																0													53	48	50					9																	140354898		2203	4300	6503	SO:0001583	missense	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3901C>A	chr9.hg19:g.140354898G>T	ENSP00000277531:p.Pro1301Thr		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	hg19	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	9.846	1.192362	0.21954	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451	T;T;T;T	0.70045	-0.45;3.47;0.36;0.36	3.27	1.01	0.19927	.	2.580500	0.01842	U	0.035387	T	0.46229	0.1382	N	0.19112	0.55	0.09310	N	1	B;P;P;B	0.45348	0.294;0.59;0.856;0.078	B;B;B;B	0.38803	0.084;0.168;0.282;0.035	T	0.44697	-0.9311	10	0.22109	T	0.4	-1.2333	1.2022	0.01887	0.1471:0.215:0.4191:0.2189	.	709;1326;1301;548	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	T	907;709;1301;1326;1238	ENSP00000360512:P907T;ENSP00000360501:P709T;ENSP00000277531:P1301T;ENSP00000384610:P1326T	ENSP00000277531:P1301T	P	-	1	0	PNPLA7	139474719	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.123000	0.10611	0.620000	0.30215	0.457000	0.33378	CCC		0.627	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		T	140354898	G	T	140354898	3	4	307	1	0	0	0	0	1	0	0	0	12172	1232	43	4	56	4	PNPLA7	9	140354898	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	345745	140354898	858533	64	18372											
GAD2	2572	hgsc.bcm.edu	37	10	26505778	26505778	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr10:26505778G>T	ENST00000376261.3	+	1	543	c.40G>T	c.(40-42)Gaa>Taa	p.E14*	GAD2_ENST00000259271.3_Nonsense_Mutation_p.E14*|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	14					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTCGGGTCGGAAGATGGCTC	0.647																																																0													64	70	68					10																	26505778		2203	4300	6503	SO:0001587	stop_gained	2572			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.40G>T	chr10.hg19:g.26505778G>T	ENSP00000365437:p.Glu14*		Q9UD87	Nonsense_Mutation	SNP	ENST00000376261.3	hg19	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	35	5.435317	0.96150	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	.	.	.	4.92	4.92	0.64577	.	0.070572	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-22.9908	16.9203	0.86162	0.0:0.0:1.0:0.0	.	.	.	.	X	14	.	ENSP00000259271:E14X	E	+	1	0	GAD2	26545784	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	5.787000	0.69013	2.282000	0.76494	0.455000	0.32223	GAA		0.647	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		T	26505778	G	T	26505778	4	4	307	1	0	0	0	0	0	1	0	0	6182	1175	41	4	42	4	GAD2	10	26505778	Nonsense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10		26505778	109028969	65	18373											
WAC	51322	hgsc.bcm.edu	37	10	28908467	28908468	+	Splice_Site	INS	-	-	TACT			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr10:28908467_28908468insTACT	ENST00000354911.4	+	14	2037_2038	c.1876_1877insTACT	c.(1876-1878)ata>aTACTta	p.-627fs	WAC_ENST00000347934.4_Splice_Site_p.-524fs|WAC_ENST00000375646.1_Splice_Site_p.-475fs|WAC_ENST00000375664.4_Splice_Site_p.-582fs	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TTTTTTCAGGATACTATTTTTG	0.277																																																0																																										SO:0001630	splice_region_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1875-1->TACT	chr10.hg19:g.28908468_28908471dupTACT			A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Frame_Shift_Ins	INS	ENST00000354911.4	hg19	CCDS7159.1																																																																																				0.277	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	Frame_Shift_Ins	TACT	28908468	-	TACT	28908467	8	5	307	1	0	1	1	0	0	0	1	0	17252	347	12	0	1930	0	WAC	10	28908467	Splice_Site	INS	-	TCGA-B9-A8YI-01A-21D-A36X-10	2402689	28908467	106626280	66	18374											
NRP1	8829	hgsc.bcm.edu	37	10	33496597	33496597	+	Silent	SNP	A	A	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr10:33496597A>G	ENST00000265371.4	-	11	2187	c.1662T>C	c.(1660-1662)ttT>ttC	p.F554F	NRP1_ENST00000395995.1_Silent_p.F554F|NRP1_ENST00000374867.2_Silent_p.F554F|NRP1_ENST00000374816.3_Silent_p.F554F|NRP1_ENST00000374822.4_Silent_p.F554F|NRP1_ENST00000374821.5_Silent_p.F554F|NRP1_ENST00000374823.5_Silent_p.F554F|NRP1_ENST00000374875.1_Silent_p.F373F			O14786	NRP1_HUMAN	neuropilin 1	554	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AGAGAGCTGGAAAAGTCCGCA	0.507																																					Melanoma(104;886 1489 44640 45944 51153)											0													168	158	161					10																	33496597		2203	4300	6503	SO:0001819	synonymous_variant	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1662T>C	chr10.hg19:g.33496597A>G			B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	hg19	CCDS7177.1																																																																																				0.507	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			G	33496597	A	G	33496597	2	3	307	1	0	0	0	0	0	0	0	1	10662	243	9	3		3	NRP1	10	33496597	Silent	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	4588130	33496597	102038150	67	18375											
BICC1	80114	hgsc.bcm.edu	37	10	60549020	60549020	+	Splice_Site	SNP	A	A	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr10:60549020A>G	ENST00000373886.3	+	7	604		c.e7-1			NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATTTCATTTTAGGAGCTGCTT	0.378																																																0													94	89	91					10																	60549020		2203	4300	6503	SO:0001630	splice_region_variant	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.601-1A>G	chr10.hg19:g.60549020A>G				Splice_Site	SNP	ENST00000373886.3	hg19	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.902221	0.72754	.	.	ENSG00000122870	ENST00000373886	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9023	0.79387	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BICC1	60219026	1.000000	0.71417	0.988000	0.46212	0.717000	0.41224	9.064000	0.93933	2.153000	0.67306	0.533000	0.62120	.		0.378	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	Intron	G	60549020	A	G	60549020	5	3	307	1	0	0	0	0	0	0	1	0	1427	434	15	3	625	3	BICC1	10	60549020	Splice_Site	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	27052423	60549020	74985727	68	18376											
UBTD1	80019	hgsc.bcm.edu	37	10	99330070	99330070	+	Silent	SNP	C	C	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr10:99330070C>A	ENST00000370664.3	+	3	810	c.474C>A	c.(472-474)ggC>ggA	p.G158G	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	158	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGTCCACGGGCAAGGACGTGA	0.697																																					Pancreas(100;169 2668 32720)											0													43	43	43					10																	99330070		2203	4299	6502	SO:0001819	synonymous_variant	80019			BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.474C>A	chr10.hg19:g.99330070C>A			D3DR57|Q53HI3	Silent	SNP	ENST00000370664.3	hg19	CCDS7465.1																																																																																				0.697	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		A	99330070	C	A	99330070	2	1	307	1	0	0	0	0	0	0	0	1	16912	697	25	4		4	UBTD1	10	99330070	Silent	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	38781050	99330070	36204677	69	18377											
MKI67	4288	hgsc.bcm.edu	37	10	129909928	129909929	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr10:129909928_129909929GT>AA	ENST00000368654.3	-	11	2615_2616	c.2240_2241AC>TT	c.(2239-2241)gAC>gTT	p.D747V	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.D387V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	747					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTCCTTAAAGTCCATTTTTTG	0.347																																																0																																										SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2240_2241delinsAA	chr10.hg19:g.129909928_129909929delinsAA	ENSP00000357643:p.Asp747Val		Q5VWH2	Silent|Missense_Mutation	SNP	ENST00000368654.3	hg19	CCDS7659.1																																																																																				0.347	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		AA	129909929	GT	AA	129909928	3	1	307	1	0	0	0	0	1	0	0	0	9600	1020	36	2	7549	2	MKI67	10	129909928	Missense_Mutation	DNP	GT	TCGA-B9-A8YI-01A-21D-A36X-10	30579858	129909928	5624819	70	18378											
MUC6	4588	hgsc.bcm.edu	37	11	1020248	1020248	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr11:1020248G>T	ENST00000421673.2	-	29	3700	c.3650C>A	c.(3649-3651)cCc>cAc	p.P1217H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1217					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACTTGCGTGGGCCGTGAGCC	0.672																																																0													71	83	79					11																	1020248		2115	4209	6324	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3650C>A	chr11.hg19:g.1020248G>T	ENSP00000406861:p.Pro1217His		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	hg19	CCDS44513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.420|3.420	-0.118416|-0.118416	0.06838|0.06838	.|.	.|.	ENSG00000184956|ENSG00000184956	ENST00000421673|ENST00000527242	T|.	0.20463|.	2.07|.	1.31|1.31	1.31|1.31	0.21738|0.21738	.|.	.|.	.|.	.|.	.|.	T|T	0.35799|0.35799	0.0944|0.0944	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D|.	0.63046|.	0.992|.	B|.	0.41332|.	0.354|.	T|T	0.33752|0.33752	-0.9856|-0.9856	9|6	0.62326|0.87932	D|D	0.03|0	.|.	6.0061|6.0061	0.19547|0.19547	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1217|.	Q6W4X9|.	MUC6_HUMAN|.	H|T	1217|22	ENSP00000406861:P1217H|.	ENSP00000406861:P1217H|ENSP00000436903:P22T	P|P	-|-	2|1	0|0	MUC6|MUC6	1010248|1010248	0.006000|0.006000	0.16342|0.16342	0.004000|0.004000	0.12327|0.12327	0.105000|0.105000	0.19272|0.19272	1.607000|1.607000	0.36836|0.36836	1.027000|1.027000	0.39758|0.39758	0.313000|0.313000	0.20887|0.20887	CCC|CCA		0.672	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1020248	G	T	1020248	3	4	307	1	0	0	0	0	1	0	0	0	9982	1232	43	4	3689	4	MUC6	11	1020248	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10		1020248	133986268	71	18379											
OR56A3	390083	hgsc.bcm.edu	37	11	5969097	5969097	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr11:5969097G>T	ENST00000329564.6	+	1	528	c.521G>T	c.(520-522)gGa>gTa	p.G174V	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGTTATTGTGGAAGAAATGTC	0.443																																																0													102	103	103					11																	5969097		2165	4289	6454	SO:0001583	missense	390083				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.521G>T	chr11.hg19:g.5969097G>T	ENSP00000331572:p.Gly174Val		A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	hg19	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	1.952	-0.440878	0.04636	.	.	ENSG00000184478	ENST00000329564	T	0.00123	8.7	5.13	-1.72	0.08107	GPCR, rhodopsin-like superfamily (1);	0.742131	0.12370	N	0.474882	T	0.00210	0.0006	M	0.78344	2.41	0.18873	N	0.999982	B	0.15473	0.013	B	0.29176	0.099	T	0.23048	-1.0199	10	0.54805	T	0.06	-1.8477	6.3867	0.21563	0.3047:0.23:0.4653:0.0	.	174	Q8NH54	O56A3_HUMAN	V	174	ENSP00000331572:G174V	ENSP00000331572:G174V	G	+	2	0	OR56A3	5925673	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	0.057000	0.14279	-0.148000	0.11234	0.650000	0.86243	GGA		0.443	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		T	5969097	G	T	5969097	3	4	307	1	0	0	0	0	1	0	0	0	11136	1174	41	4	523	4	OR56A3	11	5969097	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	4948849	5969097	129037419	72	18380											
RRP8	23378	hgsc.bcm.edu	37	11	6622765	6622765	+	Silent	SNP	A	A	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr11:6622765A>C	ENST00000254605.6	-	3	648	c.531T>G	c.(529-531)ccT>ccG	p.P177P	ILK_ENST00000537806.1_5'Flank|RRP8_ENST00000534343.1_Intron|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000528995.1_5'Flank|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000396751.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	177					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GAGGGGGTTTAGGGGAAGTGG	0.527																																																0													107	104	105					11																	6622765		2201	4296	6497	SO:0001819	synonymous_variant	23378			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.531T>G	chr11.hg19:g.6622765A>C			Q7KZ78|Q9BVM6	Silent	SNP	ENST00000254605.6	hg19	CCDS31411.1																																																																																				0.527	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		C	6622765	A	C	6622765	2	2	307	1	0	0	0	0	0	0	0	1	13696	407	15	5		5	RRP8	11	6622765	Silent	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	653668	6622765	128383751	73	18381											
PRDM11	56981	hgsc.bcm.edu	37	11	45203876	45203876	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr11:45203876A>C	ENST00000530656.1	+	3	301	c.301A>C	c.(301-303)Agc>Cgc	p.S101R	PRDM11_ENST00000424263.2_Missense_Mutation_p.S67R|PRDM11_ENST00000263765.4_Missense_Mutation_p.S101R			Q9NQV5	PRD11_HUMAN	PR domain containing 11	101							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CGTGCCCAAAAGCTTCCAGCA	0.607																																					NSCLC(118;1511 1736 6472 36603 43224)											0													76	70	72					11																	45203876		2203	4299	6502	SO:0001583	missense	56981			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.301A>C	chr11.hg19:g.45203876A>C	ENSP00000435976:p.Ser101Arg		Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	hg19		.	.	.	.	.	.	.	.	.	.	A	20.4	3.983774	0.74474	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.18	4.05	0.47172	.	0.159392	0.45126	D	0.000396	T	0.53818	0.1820	L	0.29908	0.895	0.32518	N	0.536669	D	0.76494	0.999	D	0.78314	0.991	T	0.63024	-0.6729	10	0.54805	T	0.06	-23.6209	10.7232	0.46052	0.9247:0.0:0.0753:0.0	.	101	Q9NQV5	PRD11_HUMAN	R	101;101;67;67	ENSP00000263765:S101R;ENSP00000435976:S101R;ENSP00000431898:S67R;ENSP00000394314:S67R	ENSP00000263765:S101R	S	+	1	0	PRDM11	45160452	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.780000	0.62382	0.821000	0.34540	0.402000	0.26972	AGC		0.607	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		C	45203876	A	C	45203876	3	2	307	1	0	0	0	0	1	0	0	0	12457	72	3	5	311	5	PRDM11	11	45203876	Missense_Mutation	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	38581111	45203876	89802640	74	18382											
SYTL2	54843	hgsc.bcm.edu	37	11	85416053	85416053	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr11:85416053delT	ENST00000528231.1	-	14	2399	c.2122delA	c.(2122-2124)atcfs	p.I708fs	SYTL2_ENST00000525423.1_Frame_Shift_Del_p.I1030fs|SYTL2_ENST00000527523.1_Frame_Shift_Del_p.I676fs|SYTL2_ENST00000525702.1_Frame_Shift_Del_p.I150fs|SYTL2_ENST00000389958.3_Frame_Shift_Del_p.I139fs|SYTL2_ENST00000524452.1_Frame_Shift_Del_p.I684fs|SYTL2_ENST00000389960.4_Frame_Shift_Del_p.I684fs|SYTL2_ENST00000533892.1_Frame_Shift_Del_p.I110fs|SYTL2_ENST00000529581.1_Frame_Shift_Del_p.I150fs|SYTL2_ENST00000316356.4_Frame_Shift_Del_p.I709fs|SYTL2_ENST00000359152.5_Frame_Shift_Del_p.I1554fs|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.I1046fs	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	708	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTCTTTAAGATTTGTTTTTCA	0.333																																																0													102	97	99					11																	85416053		2203	4299	6502	SO:0001589	frameshift_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2122delA	chr11.hg19:g.85416053delT	ENSP00000431701:p.Ile708fs		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Del	DEL	ENST00000528231.1	hg19	CCDS53688.1																																																																																				0.333	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		-	85416053	T	-	85416053	7	5	307	1	0	1	0	1	0	0	0	0	15488	1493	52	0	702	0	SYTL2	11	85416053	Frame_Shift_Del	DEL	T	TCGA-B9-A8YI-01A-21D-A36X-10	40212177	85416053	49590463	75	18383											
USP28	57646	hgsc.bcm.edu	37	11	113683009	113683009	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr11:113683009T>A	ENST00000003302.4	-	16	2029	c.1961A>T	c.(1960-1962)tAc>tTc	p.Y654F	USP28_ENST00000544967.1_Missense_Mutation_p.Y362F|USP28_ENST00000260188.5_Missense_Mutation_p.Y654F|USP28_ENST00000545540.1_Missense_Mutation_p.Y529F	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	654					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGCATTGAAGTAGGGTAGTTT	0.378																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0													84	78	80					11																	113683009		2201	4296	6497	SO:0001583	missense	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1961A>T	chr11.hg19:g.113683009T>A	ENSP00000003302:p.Tyr654Phe		B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	hg19	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	4.187	0.033316	0.08101	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	T;T;T;T;T	0.44083	1.51;1.52;0.93;1.52;0.93	5.0	3.83	0.44106	.	0.355351	0.34879	N	0.003616	T	0.22898	0.0553	N	0.14661	0.345	0.33755	D	0.62112	B;B;B	0.28605	0.042;0.001;0.217	B;B;B	0.27608	0.037;0.001;0.081	T	0.24941	-1.0146	10	0.09338	T	0.73	-8.4386	11.7095	0.51616	0.0:0.0:0.2787:0.7212	.	529;654;362	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	F	654;654;362;529;358	ENSP00000003302:Y654F;ENSP00000260188:Y654F;ENSP00000442431:Y362F;ENSP00000444991:Y529F;ENSP00000442257:Y358F	ENSP00000003302:Y654F	Y	-	2	0	USP28	113188219	0.982000	0.34865	0.509000	0.27700	0.927000	0.56198	2.490000	0.45294	0.883000	0.36040	0.533000	0.62120	TAC		0.378	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			A	113683009	T	A	113683009	3	1	307	1	0	0	0	0	1	0	0	0	17063	1638	57	5	1312	5	USP28	11	113683009	Missense_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	28266956	113683009	21323507	76	18384											
ETS1	2113	hgsc.bcm.edu	37	11	128354849	128354849	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr11:128354849T>G	ENST00000319397.6	-	5	908	c.599A>C	c.(598-600)aAg>aCg	p.K200T	ETS1_ENST00000345075.4_Missense_Mutation_p.K200T|ETS1_ENST00000531611.1_Missense_Mutation_p.K200T|ETS1_ENST00000392668.4_Missense_Mutation_p.K244T|ETS1_ENST00000526145.2_Missense_Mutation_p.K200T|ETS1_ENST00000535549.1_Intron	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	200	Activation domain; required for transcription activation.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		ATTCTCATACTTGAGGGAGAG	0.527																																																0													152	135	141					11																	128354849		2201	4297	6498	SO:0001583	missense	2113				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.599A>C	chr11.hg19:g.128354849T>G	ENSP00000324578:p.Lys200Thr		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	hg19	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.809866	0.70797	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.55413	2.96;2.62;0.52;2.62;2.96	5.67	5.67	0.87782	.	0.197284	0.52532	D	0.000076	T	0.68128	0.2967	L	0.55481	1.735	0.80722	D	1	D;P;P	0.71674	0.998;0.651;0.791	D;B;B	0.76071	0.987;0.214;0.273	T	0.68150	-0.5485	10	0.46703	T	0.11	.	15.9141	0.79496	0.0:0.0:0.0:1.0	.	200;200;244	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	T	200;244;200;200;200	ENSP00000340485:K200T;ENSP00000376436:K244T;ENSP00000435666:K200T;ENSP00000324578:K200T;ENSP00000433500:K200T	ENSP00000324578:K200T	K	-	2	0	ETS1	127860059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.004000	0.88535	2.159000	0.67721	0.459000	0.35465	AAG		0.527	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		G	128354849	T	G	128354849	3	3	307	1	0	0	0	0	1	0	0	0	5277	1609	56	5	742	5	ETS1	11	128354849	Missense_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	14671840	128354849	6651667	77	18385											
SFRS2IP	9169	hgsc.bcm.edu	37	12	46322508	46322509	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr12:46322508_46322509insA	ENST00000369367.3	-	11	1208_1209	c.975_976insT	c.(973-978)cgtaacfs	p.N326fs	SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.N326fs|SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.N134fs|SCAF11_ENST00000465950.1_Frame_Shift_Ins_p.N11fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	326					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GCTCTTGTGTTACGTGTAGACC	0.446																																																0																																										SO:0001589	frameshift_variant	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.976dupT	chr12.hg19:g.46322509_46322509dupA	ENSP00000358374:p.Asn326fs		A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Ins	INS	ENST00000369367.3	hg19	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		A	46322509	-	A	46322508	7	5	307	1	0	1	1	0	0	0	0	0	14183	1754	61	0	3435	0	SFRS2IP	12	46322508	Frame_Shift_Ins	INS	-	TCGA-B9-A8YI-01A-21D-A36X-10		46322508	87529387	78	18386											
ANP32D	23519	hgsc.bcm.edu	37	12	48866715	48866715	+	Missense_Mutation	SNP	C	C	G	rs147147368		TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr12:48866715C>G	ENST00000266594.1	+	1	268	c.268C>G	c.(268-270)Ctc>Gtc	p.L90V		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	90						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GTGTCCAAACCTCATACATCT	0.388																																																0													90	89	90					12																	48866715		2203	4300	6503	SO:0001583	missense	23519			U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"ANP32 acidic nuclear phosphoproteins"	16676	protein-coding gene	gene with protein product	"pp32 related 2"	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.268C>G	chr12.hg19:g.48866715C>G	ENSP00000266594:p.Leu90Val		Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	hg19	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	c	11.53	1.665208	0.29604	.	.	ENSG00000139223	ENST00000266594	T	0.62105	0.05	1.55	0.553	0.17235	.	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	H	0.95645	3.7	0.52099	D	0.999941	D	0.58970	0.984	D	0.67382	0.951	T	0.77351	-0.2620	10	0.87932	D	0	.	6.048	0.19770	0.0:0.8125:0.0:0.1875	.	90	O95626	AN32D_HUMAN	V	90	ENSP00000266594:L90V	ENSP00000266594:L90V	L	+	1	0	ANP32D	47152982	1.000000	0.71417	0.001000	0.08648	0.039000	0.13416	1.769000	0.38522	0.039000	0.15632	-1.057000	0.02308	CTC		0.388	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		G	48866715	C	G	48866715	3	3	307	1	0	0	0	0	1	0	0	0	708	681	24	4	270	4	ANP32D	12	48866715	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	2544207	48866715	84985180	79	18387											
SCN8A	6334	hgsc.bcm.edu	37	12	52201156	52201161	+	In_Frame_Del	DEL	GGAAGG	GGAAGG	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	GGAAGG	GGAAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr12:52201156_52201161delGGAAGG	ENST00000354534.6	+	27	6064_6069	c.5886_5891delGGAAGG	c.(5884-5892)gaggaagga>gaa	p.EG1963del	SCN8A_ENST00000545061.1_In_Frame_Del_p.EG1922del|AC068987.1_ENST00000599343.1_5'Flank|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1963					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AGCGGGCAGAGGAAGGAAGAAGGGAA	0.451																																																0																																										SO:0001651	inframe_deletion	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5886_5891delGGAAGG	chr12.hg19:g.52201156_52201161delGGAAGG	ENSP00000346534:p.Glu1963_Gly1964del		B9VWG8|O95788|Q9NYX2|Q9UPB2	In_Frame_Del	DEL	ENST00000354534.6	hg19	CCDS44891.1																																																																																				0.451	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		-	52201161	GGAAGG	-	52201156	7	5	307	1	0	1	0	1	0	0	0	0	13930	991	35	0	5988	0	SCN8A	12	52201156	In_Frame_Del	DEL	GGAAGG	TCGA-B9-A8YI-01A-21D-A36X-10	3334441	52201156	81650739	80	18388											
NCKAP1L	3071	hgsc.bcm.edu	37	12	54930731	54930733	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	ACA	ACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr12:54930731_54930733delACA	ENST00000293373.6	+	29	3156_3158	c.3077_3079delACA	c.(3076-3081)tacaac>tac	p.N1029del	NCKAP1L_ENST00000545638.2_In_Frame_Del_p.N979del	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1029					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AACCTAGGTTACAACAACAATAT	0.394																																																0																																										SO:0001651	inframe_deletion	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3077_3079delACA	chr12.hg19:g.54930737_54930739delACA	ENSP00000293373:p.Asn1029del		B4DUT5|Q52LW0	In_Frame_Del	DEL	ENST00000293373.6	hg19	CCDS31813.1																																																																																				0.394	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		-	54930733	ACA	-	54930731	7	5	307	1	0	1	0	1	0	0	0	0	10224	391	14	0	3191	0	NCKAP1L	12	54930731	In_Frame_Del	DEL	ACA	TCGA-B9-A8YI-01A-21D-A36X-10	2729575	54930731	78921164	81	18389	147	2									
NCKAP1L	3071	hgsc.bcm.edu	37	12	54930739	54930739	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr12:54930739A>T	ENST00000293373.6	+	29	3164	c.3085A>T	c.(3085-3087)Aat>Tat	p.N1029Y	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N979Y	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1029					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTACAACAACAATATTCATTG	0.403																																																0													109	104	106					12																	54930739		2203	4300	6503	SO:0001583	missense	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3085A>T	chr12.hg19:g.54930739A>T	ENSP00000293373:p.Asn1029Tyr		B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	hg19	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.571514	0.65765	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.54479	0.57;0.57	3.99	2.83	0.33086	.	0.118609	0.56097	D	0.000030	T	0.66366	0.2782	M	0.75615	2.305	0.52501	D	0.999952	D	0.69078	0.997	D	0.67900	0.954	T	0.67401	-0.5680	10	0.87932	D	0	-18.7262	8.0508	0.30577	0.9:0.0:0.1:0.0	.	1029	P55160	NCKPL_HUMAN	Y	1029;979	ENSP00000293373:N1029Y;ENSP00000445596:N979Y	ENSP00000293373:N1029Y	N	+	1	0	NCKAP1L	53217006	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	8.733000	0.91539	0.880000	0.35969	0.533000	0.62120	AAT		0.403	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		T	54930739	A	T	54930739	3	4	307	1	0	0	0	0	1	0	0	0	10224	130	5	5	3199	5	NCKAP1L	12	54930739	Missense_Mutation	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	8	54930739	78921156	82	18390	147	2									
RAB21	23011	hgsc.bcm.edu	37	12	72179447	72179448	+	Missense_Mutation	DNP	TG	TG	CA			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr12:72179447_72179448TG>CA	ENST00000261263.3	+	7	928_929	c.672_673TG>CA	c.(670-675)tcTGga>tcCAga	p.G225R		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	225					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)	6						GCTGTTCTTCTGGATAACTGTT	0.45																																																0																																										SO:0001583	missense	23011			AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"RAB, member RAS oncogene"	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	Exception_encountered	chr12.hg19:g.72179447_72179448delinsCA	ENSP00000261263:p.Gly225Arg		Q14466|Q569H3	Silent|Missense_Mutation	SNP	ENST00000261263.3	hg19	CCDS9003.1																																																																																				0.45	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404855.1			CA	72179448	TG	CA	72179447	3	2	307	1	0	0	0	0	1	0	0	0	12914	1567	55	3	698	3	RAB21	12	72179447	Missense_Mutation	DNP	TG	TCGA-B9-A8YI-01A-21D-A36X-10	17248708	72179447	61672448	83	18391											
PAH	5053	hgsc.bcm.edu	37	12	103248991	103248991	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr12:103248991A>T	ENST00000553106.1	-	6	1101	c.629T>A	c.(628-630)tTt>tAt	p.F210Y	PAH_ENST00000307000.2_Missense_Mutation_p.F205Y|PAH_ENST00000551988.1_5'Flank	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	210					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AAGAAGTGGAAAAATGTGATT	0.428																																																0													138	129	132					12																	103248991		2203	4300	6503	SO:0001583	missense	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.629T>A	chr12.hg19:g.103248991A>T	ENSP00000448059:p.Phe210Tyr		Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	hg19	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	A	33	5.265919	0.95399	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99674	-6.36;-6.36	5.63	5.63	0.86233	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.97321	0.9944	10	0.87932	D	0	-26.0147	15.8352	0.78793	1.0:0.0:0.0:0.0	.	210;210	B4DPN2;P00439	.;PH4H_HUMAN	Y	210;205	ENSP00000448059:F210Y;ENSP00000303500:F205Y	ENSP00000303500:F205Y	F	-	2	0	PAH	101773121	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.149000	0.67028	0.528000	0.53228	TTT		0.428	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			T	103248991	A	T	103248991	3	4	307	1	0	0	0	0	1	0	0	0	11396	14	1	5	761	5	PAH	12	103248991	Missense_Mutation	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	31069544	103248991	30602904	84	18392											
SSH1	54434	hgsc.bcm.edu	37	12	109212091	109212091	+	Splice_Site	SNP	T	T	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr12:109212091T>A	ENST00000326495.5	-	4	308		c.e4-2		SSH1_ENST00000326470.5_Splice_Site|SSH1_ENST00000551165.1_Splice_Site|SSH1_ENST00000546812.1_Intron|SSH1_ENST00000360239.3_Splice_Site	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1						actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAGATCACCTGTTGGACCAA	0.398																																																0													99	98	98					12																	109212091		2203	4300	6503	SO:0001630	splice_region_variant	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.215-2A>T	chr12.hg19:g.109212091T>A			Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Splice_Site	SNP	ENST00000326495.5	hg19	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052953	0.55218	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000546697	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2992	0.73933	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSH1	107736220	1.000000	0.71417	0.992000	0.48379	0.533000	0.34776	7.845000	0.86875	2.205000	0.71048	0.528000	0.53228	.		0.398	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	Intron	A	109212091	T	A	109212091	5	1	307	1	0	0	0	0	0	0	1	0	15189	1594	55	5	3170	5	SSH1	12	109212091	Splice_Site	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10	5963100	109212091	24639804	85	18393											
ERP29	10961	hgsc.bcm.edu	37	12	112457648	112457648	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr12:112457648A>C	ENST00000261735.3	+	2	383	c.233A>C	c.(232-234)gAa>gCa	p.E78A	ERP29_ENST00000455836.1_Intron|ERP29_ENST00000546477.1_5'UTR	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	78					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						CGTCTTGCTGAAAACTCGGCT	0.552																																																0													101	89	93					12																	112457648		2203	4300	6503	SO:0001583	missense	10961			X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"Protein disulfide isomerases"	13799	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 9"	602287	"chromosome 12 open reading frame 8"	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.233A>C	chr12.hg19:g.112457648A>C	ENSP00000261735:p.Glu78Ala		C9J183|Q3MJC3|Q6FHT4	Missense_Mutation	SNP	ENST00000261735.3	hg19	CCDS9158.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449258	0.84101	.	.	ENSG00000089248	ENST00000261735	.	.	.	5.59	5.59	0.84812	ERp29, N-terminal (1);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.53238	0.1784	L	0.52126	1.63	0.80722	D	1	P	0.48640	0.913	B	0.42995	0.404	T	0.50906	-0.8772	9	0.18276	T	0.48	-1.0617	15.7616	0.78087	1.0:0.0:0.0:0.0	.	78	P30040	ERP29_HUMAN	A	78	.	ENSP00000261735:E78A	E	+	2	0	ERP29	110942031	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.414000	0.73318	2.118000	0.64928	0.533000	0.62120	GAA		0.552	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405200.1			C	112457648	A	C	112457648	3	2	307	1	0	0	0	0	1	0	0	0	5244	246	9	5	239	5	ERP29	12	112457648	Missense_Mutation	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	3245557	112457648	21394247	86	18394											
SUDS3	64426	hgsc.bcm.edu	37	12	118852238	118852238	+	Nonstop_Mutation	SNP	A	A	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr12:118852238A>C	ENST00000543473.1	+	12	1299	c.987A>C	c.(985-987)tgA>tgC	p.*329C	SUDS3_ENST00000397564.2_Nonstop_Mutation_p.*330C	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	0					apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCTGCTTGACTTTCTACAG	0.468																																																0													24	23	23					12																	118852238		1860	4095	5955	SO:0001578	stop_lost	64426			AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"sin3A-associated protein, 45kDa"	608250	"suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.987A>C	chr12.hg19:g.118852238A>C	ENSP00000443988:p.*329Cysext*8		Q4KMQ5|Q8N6H0|Q9H8D2	Missense_Mutation	SNP	ENST00000543473.1	hg19	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242032	0.79912	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.638	0.76970	1.0:0.0:0.0:0.0	.	.	.	.	C	329;330	.	.	X	+	3	0	SUDS3	117336621	1.000000	0.71417	0.974000	0.42286	0.918000	0.54935	6.310000	0.72830	2.172000	0.68678	0.533000	0.62120	TGA		0.468	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		C	118852238	A	C	118852238	4	2	307	1	0	0	0	0	0	0	0	0	15372	288	10	5	1033	5	SUDS3	12	118852238	Nonstop_Mutation	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	6394590	118852238	14999657	87	18395											
KLHL1	57626	hgsc.bcm.edu	37	13	70371015	70371015	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr13:70371015C>G	ENST00000377844.4	-	7	2253	c.1494G>C	c.(1492-1494)caG>caC	p.Q498H	KLHL1_ENST00000545028.1_Missense_Mutation_p.Q305H	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	498					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCACACCAAACTGCAGCCTTC	0.388																																																0													202	179	186					13																	70371015		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1494G>C	chr13.hg19:g.70371015C>G	ENSP00000367075:p.Gln498His		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	hg19	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616437	0.87359	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.76448	-1.02;-1.02	5.45	5.45	0.79879	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000009	T	0.78253	0.4254	N	0.05031	-0.125	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.82989	-0.0183	10	0.54805	T	0.06	.	19.6558	0.95837	0.0:1.0:0.0:0.0	.	498;498	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	H	498;305	ENSP00000367075:Q498H;ENSP00000439602:Q305H	ENSP00000367075:Q498H	Q	-	3	2	KLHL1	69269016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.939000	0.63526	2.719000	0.93026	0.655000	0.94253	CAG		0.388	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		G	70371015	C	G	70371015	3	3	307	1	0	0	0	0	1	0	0	0	8367	564	20	4	772	4	KLHL1	13	70371015	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10		70371015	44798863	88	18396											
PCCA	5095	hgsc.bcm.edu	37	13	101077890	101077890	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr13:101077890G>C	ENST00000376285.1	+	20	1788	c.1750G>C	c.(1750-1752)Gaa>Caa	p.E584Q	PCCA_ENST00000376279.3_Missense_Mutation_p.E584Q|PCCA_ENST00000376286.4_Missense_Mutation_p.E558Q	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	584					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ACAACAGGTGGAAGTTGATGG	0.458																																																0													160	133	142					13																	101077890		2203	4300	6503	SO:0001583	missense	5095			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1750G>C	chr13.hg19:g.101077890G>C	ENSP00000365462:p.Glu584Gln		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	hg19	CCDS9496.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.798318|4.798318	0.90538|0.90538	.|.	.|.	ENSG00000175198|ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285;ENST00000424527;ENST00000536640|ENST00000458283;ENST00000413170	T;T;T;T|.	0.78246|.	-1.16;-1.16;-1.16;-1.16|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69984|0.69984	0.3172|0.3172	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28933|.	0.017;0.013;0.228|.	B;B;B|.	0.40228|.	0.04;0.037;0.323|.	T|T	0.64905|0.64905	-0.6297|-0.6297	10|5	0.22109|.	T|.	0.4|.	.|.	19.8351|19.8351	0.96655|0.96655	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	584;558;584|.	C9JPQ8;P05165-2;P05165|.	.;.;PCCA_HUMAN|.	Q|A	558;584;584;118;80|36;27	ENSP00000365463:E558Q;ENSP00000365456:E584Q;ENSP00000365462:E584Q;ENSP00000396050:E118Q|.	ENSP00000365456:E584Q|.	E|G	+|+	1|2	0|0	PCCA|PCCA	99875891|99875891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.621000|8.621000	0.90949|0.90949	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.458	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			C	101077890	G	C	101077890	3	2	307	1	0	0	0	0	1	0	0	0	11506	1175	41	4	1828	4	PCCA	13	101077890	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	30706875	101077890	14091988	89	18397											
ABHD13	84945	hgsc.bcm.edu	37	13	108882094	108882094	+	Silent	SNP	G	G	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr13:108882094G>A	ENST00000375898.3	+	2	829	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	176						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TAGACTACGTGATGACTAGAC	0.393																																					Pancreas(22;506 789 38166 45896 51596)											0													108	95	100					13																	108882094		2203	4300	6503	SO:0001819	synonymous_variant	84945			AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"Abhydrolase domain containing"	20293	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 6"	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.528G>A	chr13.hg19:g.108882094G>A			B3KWE7|Q8NBW1|Q96JX9	Silent	SNP	ENST00000375898.3	hg19	CCDS32007.1																																																																																				0.393	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		A	108882094	G	A	108882094	2	1	307	1	0	0	0	0	0	0	0	1	78	1277	45	2		2	ABHD13	13	108882094	Silent	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	7804204	108882094	6287784	90	18398											
BTBD6	90135	hgsc.bcm.edu	37	14	105716843	105716843	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr14:105716843C>A	ENST00000392554.3	+	4	1589	c.1292C>A	c.(1291-1293)aCg>aAg	p.T431K	BRF1_ENST00000446501.2_5'Flank|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000463376.2_Missense_Mutation_p.T356K|BTBD6_ENST00000536364.1_Missense_Mutation_p.T431K|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000392557.4_5'Flank|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.T356K			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	431						cytoplasm (GO:0005737)				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		ACCTTCTACACGGCCAGTGCC	0.567																																																0													93	79	84					14																	105716843		2203	4300	6503	SO:0001583	missense	90135			AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"BTB/POZ domain containing"	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.1292C>A	chr14.hg19:g.105716843C>A	ENSP00000376337:p.Thr431Lys		Q8IVQ7|Q9BR94	Missense_Mutation	SNP	ENST00000392554.3	hg19	CCDS10002.2	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670003	0.67814	.	.	ENSG00000184887	ENST00000536364;ENST00000392554;ENST00000327471	T;T;T	0.76186	-1.0;-1.0;-0.86	5.16	4.19	0.49359	PHR (1);	0.117488	0.56097	D	0.000021	D	0.86188	0.5873	M	0.88450	2.955	0.58432	D	0.999994	D	0.69078	0.997	D	0.67231	0.95	D	0.87972	0.2737	9	.	.	.	-21.705	11.8691	0.52511	0.2103:0.7897:0.0:0.0	.	431	Q96KE9	BTBD6_HUMAN	K	431;431;356	ENSP00000443091:T431K;ENSP00000376337:T431K;ENSP00000329361:T356K	.	T	+	2	0	BTBD6	104787888	0.998000	0.40836	0.953000	0.39169	0.765000	0.43378	3.980000	0.56895	2.392000	0.81423	0.655000	0.94253	ACG		0.567	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4			A	105716843	C	A	105716843	3	1	307	1	0	0	0	0	1	0	0	0	1547	536	19	4	1306	4	BTBD6	14	105716843	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10		105716843	1632697	91	18399											
VPS18	57617	hgsc.bcm.edu	37	15	41191884	41191884	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr15:41191884G>A	ENST00000220509.5	+	4	1207	c.868G>A	c.(868-870)Gat>Aat	p.D290N	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	290					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GATGATGGGGGATGGTGTGTT	0.642																																																0													68	67	67					15																	41191884		2203	4300	6503	SO:0001583	missense	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.868G>A	chr15.hg19:g.41191884G>A	ENSP00000220509:p.Asp290Asn		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	hg19	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	4.362	0.066694	0.08388	.	.	ENSG00000104142	ENST00000220509	T	0.41400	1.0	4.81	4.81	0.61882	.	0.045890	0.85682	D	0.000000	T	0.11410	0.0278	N	0.00677	-1.265	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.28586	-1.0039	10	0.10902	T	0.67	-29.5425	5.9914	0.19465	0.2254:0.0:0.7746:0.0	.	290	Q9P253	VPS18_HUMAN	N	290	ENSP00000220509:D290N	ENSP00000220509:D290N	D	+	1	0	VPS18	38979176	1.000000	0.71417	0.941000	0.38009	0.986000	0.74619	6.007000	0.70731	2.646000	0.89796	0.655000	0.94253	GAT		0.642	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			A	41191884	G	A	41191884	3	1	307	1	0	0	0	0	1	0	0	0	17199	1174	41	2	882	2	VPS18	15	41191884	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10		41191884	61339508	92	18400											
CEP152	22995	hgsc.bcm.edu	37	15	49089695	49089695	+	Silent	SNP	G	G	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr15:49089695G>T	ENST00000380950.2	-	5	530	c.343C>A	c.(343-345)Cga>Aga	p.R115R	CEP152_ENST00000325747.5_Intron|CEP152_ENST00000399334.3_Silent_p.R115R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	115					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACAGGATGTCGGTCTTCAGTT	0.378																																																0													108	97	100					15																	49089695		1868	4103	5971	SO:0001819	synonymous_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.343C>A	chr15.hg19:g.49089695G>T			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	hg19	CCDS58361.1																																																																																				0.378	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		T	49089695	G	T	49089695	2	4	307	1	0	0	0	0	0	0	0	1	3250	1124	39	4		4	CEP152	15	49089695	Silent	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	7897811	49089695	53441697	93	18401											
HERC1	8925	hgsc.bcm.edu	37	15	63991178	63991178	+	Silent	SNP	A	A	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr15:63991178A>G	ENST00000443617.2	-	26	4741	c.4654T>C	c.(4654-4656)Ttg>Ctg	p.L1552L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1552					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGGATTCCAATTGACTGTGC	0.408																																																0													168	164	165					15																	63991178		1907	4120	6027	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4654T>C	chr15.hg19:g.63991178A>G			Q8IW65	Silent	SNP	ENST00000443617.2	hg19	CCDS45277.1																																																																																				0.408	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		G	63991178	A	G	63991178	2	3	307	1	0	0	0	0	0	0	0	1	7059	98	4	3		3	HERC1	15	63991178	Silent	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	14901483	63991178	38540214	94	18402											
CIB1	10519	hgsc.bcm.edu	37	15	90774633	90774633	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr15:90774633G>T	ENST00000328649.6	-	4	463	c.302C>A	c.(301-303)aCa>aAa	p.T101K	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	101					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGCGTGGCTGTGTCACTGAA	0.567																																																0													113	92	99					15																	90774633		2199	4298	6497	SO:0001583	missense	10519			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.302C>A	chr15.hg19:g.90774633G>T	ENSP00000333873:p.Thr101Lys		B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	hg19	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352680	0.41700	.	.	ENSG00000185043	ENST00000328649	T	0.08807	3.05	4.35	4.35	0.52113	EF-hand-like domain (1);	0.119263	0.64402	D	0.000017	T	0.04679	0.0127	N	0.04746	-0.17	0.43803	D	0.996356	B	0.20459	0.045	B	0.20384	0.029	T	0.42464	-0.9450	10	0.11794	T	0.64	-0.1605	16.0477	0.80731	0.0:0.0:1.0:0.0	.	101	Q99828	CIB1_HUMAN	K	101	ENSP00000333873:T101K	ENSP00000333873:T101K	T	-	2	0	CIB1	88575637	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.143000	0.77348	2.254000	0.74563	0.563000	0.77884	ACA		0.567	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			T	90774633	G	T	90774633	3	4	307	1	0	0	0	0	1	0	0	0	3422	1377	48	4	289	4	CIB1	15	90774633	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	26783455	90774633	11756759	95	18403											
ABCC6	368	hgsc.bcm.edu	37	16	16244452	16244452	+	Silent	SNP	G	G	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr16:16244452G>C	ENST00000205557.7	-	30	4415	c.4386C>G	c.(4384-4386)tcC>tcG	p.S1462S		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1462	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AGTCCATCACGGAGCGCAGGC	0.687																																																0													38	31	33					16																	16244452		2197	4298	6495	SO:0001819	synonymous_variant	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4386C>G	chr16.hg19:g.16244452G>C			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	hg19	CCDS10568.1																																																																																				0.687	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			C	16244452	G	C	16244452	2	2	307	1	0	0	0	0	0	0	0	1	57	1103	39	4		4	ABCC6	16	16244452	Silent	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10		16244452	74110301	96	18404											
FHOD1	29109	hgsc.bcm.edu	37	16	67264360	67264360	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr16:67264360C>T	ENST00000258201.4	-	19	3155	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	970	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATGCGCACTTCACGGGCCGCC	0.592																																																0													85	84	84					16																	67264360		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2908G>A	chr16.hg19:g.67264360C>T	ENSP00000258201:p.Glu970Lys		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	hg19	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943253	0.53079	.	.	ENSG00000135723	ENST00000258201	T	0.17854	2.25	5.76	5.76	0.90799	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.097634	0.64402	D	0.000002	T	0.22475	0.0542	L	0.35644	1.08	0.58432	D	0.999997	B	0.24963	0.115	B	0.37989	0.262	T	0.03922	-1.0992	10	0.35671	T	0.21	.	18.5254	0.90969	0.0:1.0:0.0:0.0	.	970	Q9Y613	FHOD1_HUMAN	K	970	ENSP00000258201:E970K	ENSP00000258201:E970K	E	-	1	0	FHOD1	65821861	1.000000	0.71417	0.305000	0.25099	0.164000	0.22412	7.609000	0.82925	2.724000	0.93272	0.561000	0.74099	GAA		0.592	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			T	67264360	C	T	67264360	3	4	307	1	0	0	0	0	1	0	0	0	5884	835	29	2	602	2	FHOD1	16	67264360	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	51019908	67264360	23090393	97	18405											
CENPT	80152	hgsc.bcm.edu	37	16	67862427	67862427	+	Silent	SNP	A	A	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr16:67862427A>G	ENST00000562787.1	-	15	2060	c.1512T>C	c.(1510-1512)caT>caC	p.H504H	CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000564817.1_Silent_p.H449H|CENPT_ENST00000440851.2_Silent_p.H504H|CENPT_ENST00000219172.3_Silent_p.H504H	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	504					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TGCGGCCAGCATGAGCAGCAA	0.542																																																0													121	130	127					16																	67862427		2055	4208	6263	SO:0001819	synonymous_variant	80152			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1512T>C	chr16.hg19:g.67862427A>G			Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	hg19	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	A	7.927	0.739794	0.15642	.	.	ENSG00000102901	ENST00000436104	.	.	.	5.67	1.04	0.20106	.	.	.	.	.	T	0.46210	0.1381	.	.	.	0.80722	D	1	B	0.19583	0.037	B	0.18561	0.022	T	0.38178	-0.9673	7	0.87932	D	0	-4.3691	8.2039	0.31441	0.7038:0.0:0.2962:0.0	.	256	F5H5A6	.	T	256	.	ENSP00000404857:M256T	M	-	2	0	CENPT	66419928	0.999000	0.42202	1.000000	0.80357	0.864000	0.49448	0.466000	0.22019	0.113000	0.18004	0.459000	0.35465	ATG		0.542	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		G	67862427	A	G	67862427	2	3	307	1	0	0	0	0	0	0	0	1	3244	214	8	3		3	CENPT	16	67862427	Silent	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	598067	67862427	22492326	98	18406											
CDH1	999	hgsc.bcm.edu	37	16	68867229	68867229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr16:68867229delC	ENST00000261769.5	+	16	2667	c.2476delC	c.(2476-2478)cctfs	p.P826fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Del_p.P765fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	826	Required for binding alpha, beta and gamma catenins.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACAGCCCCGCCTTATGATTC	0.498			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	0													83	84	84					16																	68867229		2198	4300	6498	SO:0001589	frameshift_variant	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2476delC	chr16.hg19:g.68867229delC	ENSP00000261769:p.Pro826fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	ENST00000261769.5	hg19	CCDS10869.1																																																																																				0.498	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		-	68867229	C	-	68867229	7	5	307	1	0	1	0	1	0	0	0	0	3097	739	26	0	2538	0	CDH1	16	68867229	Frame_Shift_Del	DEL	C	TCGA-B9-A8YI-01A-21D-A36X-10	1004802	68867229	21487524	99	18407											
GEMIN4	50628	hgsc.bcm.edu	37	17	649755	649755	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr17:649755C>T	ENST00000319004.5	-	2	1646	c.1528G>A	c.(1528-1530)Ggc>Agc	p.G510S	GEMIN4_ENST00000576778.1_Missense_Mutation_p.G499S	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	510					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGAGAGGCCCTTTCGCCCC	0.527																																																0													41	43	42					17																	649755		1929	4135	6064	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1528G>A	chr17.hg19:g.649755C>T	ENSP00000321706:p.Gly510Ser		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	hg19	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284219	0.59867	.	.	ENSG00000179409	ENST00000319004	T	0.14893	2.47	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.22173	-1.0224	10	0.87932	D	0	-19.9739	18.8377	0.92169	0.0:1.0:0.0:0.0	.	510	P57678	GEMI4_HUMAN	S	510	ENSP00000321706:G510S	ENSP00000321706:G510S	G	-	1	0	GEMIN4	596505	1.000000	0.71417	0.999000	0.59377	0.093000	0.18481	7.423000	0.80229	2.779000	0.95612	0.591000	0.81541	GGC		0.527	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		T	649755	C	T	649755	3	4	307	1	0	0	0	0	1	0	0	0	6332	623	22	2	1652	2	GEMIN4	17	649755	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10		649755	80545455	100	18408											
SCO1	6341	hgsc.bcm.edu	37	17	10596136	10596136	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr17:10596136G>C	ENST00000255390.5	-	3	567	c.507C>G	c.(505-507)tgC>tgG	p.C169W	SCO1_ENST00000582053.1_5'Flank|SCO1_ENST00000577427.1_Intron	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	169					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						AGACATCAGGGCAATGAGTGA	0.403																																					Melanoma(128;591 1731 19711 31891 44645)											0													131	116	121					17																	10596136		2203	4300	6503	SO:0001583	missense	6341			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"Mitochondrial respiratory chain complex assembly factors"	10603	protein-coding gene	gene with protein product		603644	"SCO (cytochrome oxidase deficient, yeast) homolog 1", "SCO cytochrome oxidase deficient homolog 1 (yeast)"	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.507C>G	chr17.hg19:g.10596136G>C	ENSP00000255390:p.Cys169Trp		B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	hg19	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451580	0.63290	.	.	ENSG00000133028	ENST00000255390	D	0.94497	-3.44	6.08	1.4	0.22301	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-14.6714	10.5038	0.44821	0.4036:0.0:0.5964:0.0	.	169	O75880	SCO1_HUMAN	W	169	ENSP00000255390:C169W	ENSP00000255390:C169W	C	-	3	2	SCO1	10536861	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.367000	0.20382	0.466000	0.27193	0.591000	0.81541	TGC		0.403	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		C	10596136	G	C	10596136	3	2	307	1	0	0	0	0	1	0	0	0	13937	1195	42	4	414	4	SCO1	17	10596136	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10	9946381	10596136	70599074	101	18409											
KRTAP4-5	85289	hgsc.bcm.edu	37	17	39305774	39305775	+	Missense_Mutation	DNP	CT	CT	GC	rs137947981|rs535144703|rs141265645|rs58117746	byFrequency	TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr17:39305774_39305775CT>GC	ENST00000343246.4	-	1	279_280	c.245_246AG>GC	c.(244-246)cAG>cGC	p.Q82R		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	82	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.Q82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcaggtggtctggcagcagca	0.653																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	85289			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.245_246delinsGC	chr17.hg19:g.39305774_39305775delinsGC	ENSP00000340546:p.Gln82Arg			Missense_Mutation	SNP	ENST00000343246.4	hg19	CCDS32650.1																																																																																				0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			GC	39305775	CT	GC	39305774	3	3	307	1	0	0	0	0	1	0	0	0	8556	912	32	4	303	4	KRTAP4-5	17	39305774	Missense_Mutation	DNP	CT	TCGA-B9-A8YI-01A-21D-A36X-10	28709638	39305774	41889436	102	18410											
KRT9	3857	hgsc.bcm.edu	37	17	39723874	39723874	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr17:39723874C>G	ENST00000246662.4	-	7	1588	c.1523G>C	c.(1522-1524)gGa>gCa	p.G508A	KRT9_ENST00000588431.1_Missense_Mutation_p.G275A	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	508	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				cccacttcctccaccatagcc	0.597																																																0													195	129	151					17																	39723874		2200	4294	6494	SO:0001583	missense	3857				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1523G>C	chr17.hg19:g.39723874C>G	ENSP00000246662:p.Gly508Ala		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	hg19	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	8.973	0.973413	0.18736	.	.	ENSG00000171403	ENST00000246662	D	0.96554	-4.05	3.1	2.11	0.27256	.	0.270585	0.19745	N	0.107025	D	0.91229	0.7236	N	0.24115	0.695	0.26842	N	0.96836	D	0.56035	0.974	P	0.49252	0.604	D	0.85008	0.0904	10	0.07482	T	0.82	.	6.2431	0.20801	0.0:0.8527:0.0:0.1473	.	508	P35527	K1C9_HUMAN	A	508	ENSP00000246662:G508A	ENSP00000246662:G508A	G	-	2	0	KRT9	36977400	0.090000	0.21635	0.757000	0.31301	0.407000	0.30961	1.505000	0.35736	0.531000	0.28639	0.458000	0.33432	GGA		0.597	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		G	39723874	C	G	39723874	3	3	307	1	0	0	0	0	1	0	0	0	8503	855	30	4	352	4	KRT9	17	39723874	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	418100	39723874	41471336	103	18411											
NT5C3L	115024	hgsc.bcm.edu	37	17	39981892	39981892	+	Silent	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr17:39981892C>T	ENST00000435506.2	-	9	855	c.786G>A	c.(784-786)gaG>gaA	p.E262E	NT5C3B_ENST00000269534.8_Silent_p.E254E|NT5C3B_ENST00000521789.1_Silent_p.E162E			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	262					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										CCATGTAGCGCTCCCGCCGCT	0.632																																																0													88	89	88					17																	39981892		2203	4300	6503	SO:0001819	synonymous_variant	115024				CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"5'-nucleotidase, cytosolic III-like"	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.786G>A	chr17.hg19:g.39981892C>T			A8MWB9|C9JKC4|Q7L3B7	Silent	SNP	ENST00000435506.2	hg19	CCDS11410.2																																																																																				0.632	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935		T	39981892	C	T	39981892	2	4	307	1	0	0	0	0	0	0	0	1	10691	796	28	2		2	NT5C3L	17	39981892	Silent	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	258018	39981892	41213318	104	18412											
ITGA2B	3674	hgsc.bcm.edu	37	17	42457409	42457409	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr17:42457409C>A	ENST00000262407.5	-	17	1744	c.1713G>T	c.(1711-1713)aaG>aaT	p.K571N	ITGA2B_ENST00000353281.4_Missense_Mutation_p.K571N	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	571					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TGGGGCTGTGCTTTCCGCCCA	0.647																																																0													46	47	47					17																	42457409		2201	4296	6497	SO:0001583	missense	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1713G>T	chr17.hg19:g.42457409C>A	ENSP00000262407:p.Lys571Asn		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	hg19	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	7.724	0.697783	0.15106	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.48522	0.81;0.81	4.69	0.243	0.15503	Integrin alpha-2 (1);	0.641780	0.12817	N	0.436713	T	0.18130	0.0435	N	0.02539	-0.55	0.09310	N	1	B;B	0.18863	0.031;0.015	B;B	0.18561	0.008;0.022	T	0.17899	-1.0354	10	0.30078	T	0.28	.	4.1669	0.10310	0.1606:0.5581:0.0:0.2812	.	169;571	Q59FA8;P08514	.;ITA2B_HUMAN	N	571	ENSP00000262407:K571N;ENSP00000340536:K571N	ENSP00000262407:K571N	K	-	3	2	ITGA2B	39812935	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.024000	0.13555	0.180000	0.19960	0.561000	0.74099	AAG		0.647	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			A	42457409	C	A	42457409	3	1	307	1	0	0	0	0	1	0	0	0	7878	796	28	4	1462	4	ITGA2B	17	42457409	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	2475517	42457409	38737801	105	18413											
SCRN2	90507	hgsc.bcm.edu	37	17	45916949	45916949	+	Silent	SNP	C	C	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr17:45916949C>A	ENST00000290216.9	-	4	542	c.417G>T	c.(415-417)ctG>ctT	p.L139L	SCRN2_ENST00000584123.1_Silent_p.L147L|SCRN2_ENST00000407215.3_Silent_p.L139L	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	139						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CATAGTGCTCCAGTAACCCTG	0.612																																																0													135	130	132					17																	45916949		2203	4300	6503	SO:0001819	synonymous_variant	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.417G>T	chr17.hg19:g.45916949C>A			A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	ENST00000290216.9	hg19	CCDS11519.1																																																																																				0.612	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		A	45916949	C	A	45916949	2	1	307	1	0	0	0	0	0	0	0	1	13945	581	21	4		4	SCRN2	17	45916949	Silent	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	3459540	45916949	35278261	106	18414											
B4GALNT2	124872	hgsc.bcm.edu	37	17	47219412	47219413	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr17:47219412_47219413delTC	ENST00000300404.2	+	3	470_471	c.411_412delTC	c.(409-414)aatcagfs	p.NQ137fs	B4GALNT2_ENST00000393354.2_Frame_Shift_Del_p.NQ77fs|B4GALNT2_ENST00000504681.1_Frame_Shift_Del_p.NQ51fs	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	137					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TCCCGAAAAATCAGTGCAAATG	0.52																																					GBM(124;244 1635 8663 18097 33175)											0																																										SO:0001589	frameshift_variant	124872			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.411_412delTC	chr17.hg19:g.47219412_47219413delTC	ENSP00000300404:p.Asn137fs		B4DZE4|Q14CP1|Q86Y40	Frame_Shift_Del	DEL	ENST00000300404.2	hg19	CCDS11544.1																																																																																				0.52	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		-	47219413	TC	-	47219412	7	5	307	1	0	1	0	1	0	0	0	0	1267	1432	50	0	439	0	B4GALNT2	17	47219412	Frame_Shift_Del	DEL	TC	TCGA-B9-A8YI-01A-21D-A36X-10	1302463	47219412	33975798	107	18415											
MYST2	11143	hgsc.bcm.edu	37	17	47888871	47888871	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr17:47888871A>C	ENST00000259021.4	+	7	1067	c.787A>C	c.(787-789)Aaa>Caa	p.K263Q	KAT7_ENST00000503935.2_Missense_Mutation_p.K107Q|KAT7_ENST00000424009.2_Missense_Mutation_p.K233Q|KAT7_ENST00000509773.1_Missense_Mutation_p.K153Q|KAT7_ENST00000510819.1_Missense_Mutation_p.K94Q|KAT7_ENST00000454930.2_Missense_Mutation_p.K124Q|KAT7_ENST00000435742.2_Missense_Mutation_p.K77Q	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	263					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATATAAGGAAAAAGTGGCTGA	0.368																																																0													53	56	55					17																	47888871		2203	4300	6503	SO:0001583	missense	11143			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.787A>C	chr17.hg19:g.47888871A>C	ENSP00000259021:p.Lys263Gln		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	hg19	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210633	0.39102	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.65	5.65	0.86999	.	0.097322	0.64402	D	0.000002	T	0.57475	0.2056	L	0.47716	1.5	0.58432	D	0.999991	B;B;B;B;B;B	0.20052	0.024;0.006;0.024;0.007;0.031;0.041	B;B;B;B;B;B	0.17433	0.005;0.002;0.003;0.007;0.007;0.018	T	0.54583	-0.8272	9	0.48119	T	0.1	-20.7432	15.6986	0.77521	1.0:0.0:0.0:0.0	.	226;94;153;124;263;233	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	Q	263;124;153;94;233;107;77	.	ENSP00000259021:K263Q	K	+	1	0	KAT7	45243870	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.394000	0.66285	2.371000	0.80710	0.533000	0.62120	AAA		0.368	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		C	47888871	A	C	47888871	3	2	307	1	0	0	0	0	1	0	0	0	10105	15	1	5	813	5	MYST2	17	47888871	Missense_Mutation	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10	669459	47888871	33306339	108	18416											
ST8SIA5	29906	hgsc.bcm.edu	37	18	44260388	44260388	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr18:44260388A>C	ENST00000315087.7	-	7	1408	c.748T>G	c.(748-750)Tac>Gac	p.Y250D	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.Y286D|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.Y219D	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	250					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CGCGTGTTGTAGAAGGCAGGC	0.602																																																0													89	51	64					18																	44260388		2203	4300	6503	SO:0001583	missense	29906			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.748T>G	chr18.hg19:g.44260388A>C	ENSP00000321343:p.Tyr250Asp		B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	hg19	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508290	0.85282	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.32023	1.47;1.47;1.47	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.41415	1.275	0.80722	D	1	D;B;D	0.89917	1.0;0.15;1.0	D;B;D	0.87578	0.998;0.246;0.995	T	0.31392	-0.9945	10	0.36615	T	0.2	-9.7928	15.6254	0.76851	1.0:0.0:0.0:0.0	.	219;286;250	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	D	250;286;219	ENSP00000321343:Y250D;ENSP00000445492:Y286D;ENSP00000443683:Y219D	ENSP00000321343:Y250D	Y	-	1	0	ST8SIA5	42514386	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.090000	0.63153	0.459000	0.35465	TAC		0.602	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		C	44260388	A	C	44260388	3	2	307	1	0	0	0	0	1	0	0	0	15240	420	15	5	386	5	ST8SIA5	18	44260388	Missense_Mutation	SNP	A	TCGA-B9-A8YI-01A-21D-A36X-10		44260388	33816860	109	18417											
ZNF844	284391	hgsc.bcm.edu	37	19	12187708	12187708	+	Silent	SNP	G	G	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr19:12187708G>C	ENST00000439326.3	+	4	1948	c.1773G>C	c.(1771-1773)gtG>gtC	p.V591V	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TAAAGAGTGTGACAAAGCATT	0.393																																																0													122	108	112					19																	12187708		692	1591	2283	SO:0001819	synonymous_variant	284391			AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1773G>C	chr19.hg19:g.12187708G>C			Q5JPI8	Silent	SNP	ENST00000439326.3	hg19	CCDS45985.1																																																																																				0.393	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			C	12187708	G	C	12187708	2	2	307	1	0	0	0	0	0	0	0	1	18195	1277	45	4		4	ZNF844	19	12187708	Silent	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10		12187708	46941275	110	18418											
ILVBL	10994	hgsc.bcm.edu	37	19	15230250	15230250	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr19:15230250delG	ENST00000263383.3	-	8	1032	c.893delC	c.(892-894)ccafs	p.P298fs	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Frame_Shift_Del_p.P191fs	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	298						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGCAGACGTTGGGGTGAGCAG	0.647																																																0													53	48	50					19																	15230250		2203	4300	6503	SO:0001589	frameshift_variant	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.893delC	chr19.hg19:g.15230250delG	ENSP00000263383:p.Pro298fs		O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Frame_Shift_Del	DEL	ENST00000263383.3	hg19	CCDS12325.1																																																																																				0.647	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		-	15230250	G	-	15230250	7	5	307	1	0	1	0	1	0	0	0	0	7717	1348	47	0	1041	0	ILVBL	19	15230250	Frame_Shift_Del	DEL	G	TCGA-B9-A8YI-01A-21D-A36X-10	3042542	15230250	43898733	111	18419											
PARD6B	84612	hgsc.bcm.edu	37	20	49354467	49354467	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr20:49354467T>C	ENST00000371610.2	+	2	383	c.140T>C	c.(139-141)cTa>cCa	p.L47P	PARD6B_ENST00000396039.1_Missense_Mutation_p.L47P	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	47	OPR.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TATGGATTACTACAACATGTT	0.343																																																0													84	83	84					20																	49354467		2203	4300	6503	SO:0001583	missense	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.140T>C	chr20.hg19:g.49354467T>C	ENSP00000360672:p.Leu47Pro		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	hg19	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892162	0.72524	.	.	ENSG00000124171	ENST00000371610;ENST00000396039	T;T	0.27890	1.64;1.64	5.92	5.92	0.95590	Phox/Bem1p (2);	0.000000	0.64402	D	0.000001	T	0.56804	0.2010	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.60732	-0.7205	10	0.87932	D	0	-21.6554	15.5593	0.76229	0.0:0.0:0.0:1.0	.	47	Q9BYG5	PAR6B_HUMAN	P	47	ENSP00000360672:L47P;ENSP00000379354:L47P	ENSP00000360672:L47P	L	+	2	0	PARD6B	48787874	1.000000	0.71417	0.749000	0.31150	0.589000	0.36550	7.662000	0.83803	2.277000	0.76020	0.528000	0.53228	CTA		0.343	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		C	49354467	T	C	49354467	3	2	307	1	0	0	0	0	1	0	0	0	11448	1522	53	3	146	3	PARD6B	20	49354467	Missense_Mutation	SNP	T	TCGA-B9-A8YI-01A-21D-A36X-10		49354467	13671053	112	18420											
CHRNA4	1137	hgsc.bcm.edu	37	20	61981808	61981808	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr20:61981808delG	ENST00000370263.4	-	5	1176	c.955delC	c.(955-957)ctgfs	p.L319fs	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	319					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	ACGATGGACAGGGTGACGAAG	0.597																																																0													233	160	185					20																	61981808		2203	4300	6503	SO:0001589	frameshift_variant	1137				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.955delC	chr20.hg19:g.61981808delG	ENSP00000359285:p.Leu319fs		Q4JGR7|Q4VAQ5|Q4VAQ6	Frame_Shift_Del	DEL	ENST00000370263.4	hg19	CCDS13517.1																																																																																				0.597	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			-	61981808	G	-	61981808	7	5	307	1	0	1	0	1	0	0	0	0	3387	991	35	0	936	0	CHRNA4	20	61981808	Frame_Shift_Del	DEL	G	TCGA-B9-A8YI-01A-21D-A36X-10	12627341	61981808	1043712	113	18421											
DIP2A	23181	hgsc.bcm.edu	37	21	47986481	47986481	+	Missense_Mutation	SNP	G	G	T	rs537914823		TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr21:47986481G>T	ENST00000417564.2	+	37	4369	c.4348G>T	c.(4348-4350)Gat>Tat	p.D1450Y	DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Missense_Mutation_p.D1446Y|DIP2A_ENST00000318711.7_Missense_Mutation_p.D1451Y			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1450					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AGGGCGGCACGATGCACTGTA	0.557																																																0													112	118	116					21																	47986481		2195	4299	6494	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4348G>T	chr21.hg19:g.47986481G>T	ENSP00000392066:p.Asp1450Tyr		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	hg19	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444922	0.83993	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.26957	1.7;1.7;1.7	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62210	-0.6902	10	0.87932	D	0	-18.8768	18.425	0.90606	0.0:0.0:1.0:0.0	.	1451;1450	E9PER1;Q14689	.;DIP2A_HUMAN	Y	1446;1451;1450	ENSP00000383133:D1446Y;ENSP00000323633:D1451Y;ENSP00000392066:D1450Y	ENSP00000323633:D1451Y	D	+	1	0	DIP2A	46810909	1.000000	0.71417	0.728000	0.30774	0.707000	0.40811	9.627000	0.98412	2.599000	0.87857	0.655000	0.94253	GAT		0.557	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		T	47986481	G	T	47986481	3	4	307	1	0	0	0	0	1	0	0	0	4529	1058	37	4	4607	4	DIP2A	21	47986481	Missense_Mutation	SNP	G	TCGA-B9-A8YI-01A-21D-A36X-10		47986481	143414	114	18422											
POTEH	23784	hgsc.bcm.edu	37	22	16258291	16258294	+	Frame_Shift_Del	DEL	ATTT	ATTT	-	rs200891952|rs565828046	byFrequency	TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	ATTT	ATTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr22:16258291_16258294delATTT	ENST00000343518.6	-	10	1581_1584	c.1530_1533delAAAT	c.(1528-1533)caaaatfs	p.QN510fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	510										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCTGAGTATCATTTTGTTCATCAC	0.358																																																0																																										SO:0001589	frameshift_variant	23784			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1530_1533delAAAT	chr22.hg19:g.16258291_16258294delATTT	ENSP00000340610:p.Gln510fs		A2CEK4|A6NCI1|A9Z1W0	Frame_Shift_Del	DEL	ENST00000343518.6	hg19	CCDS46658.1																																																																																				0.358	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		-	16258294	ATTT	-	16258291	7	5	307	1	0	1	0	1	0	0	0	0	12269	214	8	0	108	0	POTEH	22	16258291	Frame_Shift_Del	DEL	ATTT	TCGA-B9-A8YI-01A-21D-A36X-10		16258291	35046275	115	18423											
TBC1D22A	25771	hgsc.bcm.edu	37	22	47433038	47433038	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chr22:47433038C>A	ENST00000337137.4	+	11	1439	c.1273C>A	c.(1273-1275)Ctg>Atg	p.L425M	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.L378M|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.L347M|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.L366M	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	425	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GATGAACAACCTGCTGATGAG	0.607																																																0													122	99	107					22																	47433038		2203	4300	6503	SO:0001583	missense	25771			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1273C>A	chr22.hg19:g.47433038C>A	ENSP00000336724:p.Leu425Met		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	hg19	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481640	0.63849	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	4.59	2.39	0.29439	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.43122	0.1233	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	0.995;0.999;1.0;0.995	D;D;D;D	0.76071	0.969;0.977;0.987;0.969	T	0.35599	-0.9782	10	0.59425	D	0.04	.	7.0227	0.24922	0.0:0.7199:0.0:0.2801	.	425;347;366;425	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	M	425;366;347;378	ENSP00000336724:L425M;ENSP00000384036:L366M;ENSP00000347932:L347M;ENSP00000385634:L378M	ENSP00000336724:L425M	L	+	1	2	TBC1D22A	45811702	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.985000	0.40668	1.137000	0.42214	0.462000	0.41574	CTG		0.607	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		A	47433038	C	A	47433038	3	1	307	1	0	0	0	0	1	0	0	0	15616	680	24	4	1315	4	TBC1D22A	22	47433038	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	31174747	47433038	3871528	116	18424											
PHF16	9767	hgsc.bcm.edu	37	X	46898381	46898381	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chrX:46898381C>G	ENST00000218343.4	+	8	1184	c.886C>G	c.(886-888)Ccg>Gcg	p.P296A	PHF16_ENST00000397189.1_Missense_Mutation_p.P296A	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GAGGATGGAACCGATCACGAA	0.483																																																0													174	152	160					X																	46898381		2203	4300	6503	SO:0001583	missense	9767																														ENST00000218343.4:c.886C>G	chrX.hg19:g.46898381C>G	ENSP00000218343:p.Pro296Ala			Missense_Mutation	SNP	ENST00000218343.4	hg19	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680539	0.88542	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.15139	2.45;2.45	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61073	-0.7136	10	0.87932	D	0	.	18.4146	0.90565	0.0:1.0:0.0:0.0	.	296	Q92613	JADE3_HUMAN	A	296	ENSP00000380373:P296A;ENSP00000218343:P296A	ENSP00000218343:P296A	P	+	1	0	PHF16	46783325	1.000000	0.71417	0.994000	0.49952	0.881000	0.50899	7.367000	0.79558	2.289000	0.77006	0.513000	0.50165	CCG		0.483	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			G	46898381	C	G	46898381	3	3	307	1	0	0	0	0	1	0	0	0	11829	507	18	4	912	4	PHF16	23	46898381	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10		46898381	108372179	117	18425											
UBL4A	8266	hgsc.bcm.edu	37	X	153713966	153713966	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A8YI-01A-21D-A36X-10	TCGA-B9-A8YI-10A-01D-A370-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b4b55b-1ee7-4b50-838e-95aa7d2fcd51	7aa75db8-fcf8-49cb-b097-27dc79933907	g.chrX:153713966C>T	ENST00000369660.4	-	4	471	c.386G>A	c.(385-387)cGc>cAc	p.R129H	UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Missense_Mutation_p.R129H	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	129					cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCGTCAGGCGACTCAGGGA	0.597																																					Esophageal Squamous(74;88 1215 11149 34177 46777)											0													89	83	85					X																	153713966		2203	4300	6503	SO:0001583	missense	8266			J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"ubiquitin-like 4"	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.386G>A	chrX.hg19:g.153713966C>T	ENSP00000358674:p.Arg129His		Q5HY80	Missense_Mutation	SNP	ENST00000369660.4	hg19	CCDS14754.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227136	0.58668	.	.	ENSG00000102178	ENST00000369660;ENST00000369653	T;T	0.47528	0.88;0.84	5.35	3.31	0.37934	.	0.203112	0.42821	D	0.000656	T	0.53981	0.1830	M	0.74258	2.255	0.32176	N	0.580979	D	0.67145	0.996	P	0.53689	0.732	T	0.64723	-0.6340	10	0.66056	D	0.02	-0.0623	5.1063	0.14785	0.3116:0.5794:0.0:0.109	.	129	P11441	UBL4A_HUMAN	H	129	ENSP00000358674:R129H;ENSP00000358667:R129H	ENSP00000358667:R129H	R	-	2	0	UBL4A	153367160	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	1.164000	0.31810	1.161000	0.42604	0.529000	0.55759	CGC		0.597	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2	NM_014235		T	153713966	C	T	153713966	3	4	307	1	0	0	0	0	1	0	0	0	16892	768	27	1	91	1	UBL4A	23	153713966	Missense_Mutation	SNP	C	TCGA-B9-A8YI-01A-21D-A36X-10	106815585	153713966	1556594	118	18426											
SLC5A9	200010	hgsc.bcm.edu;ucsc.edu	37	1	48694801	48694801	+	Intron	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr1:48694801C>T	ENST00000438567.2	+	4	391				SLC5A9_ENST00000236495.5_Silent_p.D122D|SLC5A9_ENST00000420136.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Silent_p.D122D	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ctggaggagacagagggatcc	0.532																																																0													137	147	143					1																	48694801		2203	4300	6503	SO:0001627	intron_variant	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.340-166C>T	1.37:g.48694801C>T			B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	CCDS30709.2																																																																																				0.532	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		T	48694801	C	T	48694801	1	4	308	0	1	0	0	0	0	0	0	0	14678	477	17	2		2	SLC5A9	1	48694801	Intron	SNP	C	TCGA-BP-4158-01A-02D-1366-10		48694801	200555820	1	18427											
KANK4	163782	hgsc.bcm.edu	37	1	62740524	62740524	+	Silent	SNP	T	T	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr1:62740524T>G	ENST00000371153.4	-	3	630	c.252A>C	c.(250-252)gcA>gcC	p.A84A	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	84						cytoplasm (GO:0005737)		p.A84A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGGGCGGGGCTGCAGGGGGGC	0.587																																																1	Substitution - coding silent(1)	ovary(1)											76	88	84					1																	62740524		2203	4300	6503	SO:0001819	synonymous_variant	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.252A>C	1.37:g.62740524T>G			B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	CCDS620.1																																																																																				0.587	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		G	62740524	T	G	62740524	2	3	308	1	0	0	0	0	0	0	0	1	7981	1567	55	5		5	KANK4	1	62740524	Silent	SNP	T	TCGA-BP-4158-01A-02D-1366-10	14045723	62740524	186510097	2	18428											
ZNF687	57592	hgsc.bcm.edu	37	1	151259273	151259273	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr1:151259273A>G	ENST00000368879.2	+	2	604	c.506A>G	c.(505-507)gAg>gGg	p.E169G		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	169	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTGGCCCTGAGCCAGGGGAC	0.617																																																0													48	52	51					1																	151259273		2203	4300	6503	SO:0001583	missense	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.506A>G	1.37:g.151259273A>G	ENSP00000357874:p.Glu169Gly		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37		.	.	.	.	.	.	.	.	.	.	A	13.77	2.336994	0.41398	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00932	5.53;5.53;5.87	4.65	4.65	0.58169	.	0.000000	0.35739	N	0.003014	T	0.01189	0.0039	L	0.29908	0.895	0.33636	D	0.606619	D;D;D	0.76494	0.999;0.99;0.999	D;P;D	0.78314	0.991;0.868;0.991	T	0.70040	-0.4981	9	.	.	.	.	13.1788	0.59642	1.0:0.0:0.0:0.0	.	169;169;169	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	G	169	ENSP00000336620:E169G;ENSP00000319829:E169G;ENSP00000357874:E169G	.	E	+	2	0	ZNF687	149525897	1.000000	0.71417	0.984000	0.44739	0.183000	0.23260	5.299000	0.65716	1.958000	0.56883	0.379000	0.24179	GAG		0.617	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		G	151259273	A	G	151259273	3	3	308	1	0	0	0	0	1	0	0	0	18097	304	11	3	508	3	ZNF687	1	151259273	Missense_Mutation	SNP	A	TCGA-BP-4158-01A-02D-1366-10	88518749	151259273	97991348	3	18429											
TRAF5	7188	hgsc.bcm.edu	37	1	211545632	211545632	+	Missense_Mutation	SNP	T	T	A	rs78225734		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr1:211545632T>A	ENST00000261464.5	+	11	1316	c.1262T>A	c.(1261-1263)gTg>gAg	p.V421E	TRAF5_ENST00000336184.2_Missense_Mutation_p.V421E|TRAF5_ENST00000367004.3_Missense_Mutation_p.V421E|TRAF5_ENST00000427925.2_Missense_Mutation_p.V315E	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	421	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		AGAGAGGCGGTGGATGGGCAC	0.498																																																0													101	107	105					1																	211545632		2203	4300	6503	SO:0001583	missense	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1262T>A	1.37:g.211545632T>A	ENSP00000261464:p.Val421Glu		B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674625	0.47781	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.35605	2.16;1.3;2.16;2.16	5.16	4.02	0.46733	TRAF-type (1);TRAF-like (1);MATH (2);	0.564345	0.18954	N	0.126613	T	0.24084	0.0583	N	0.17594	0.5	0.32617	N	0.523861	P;P;B	0.37038	0.51;0.579;0.134	B;B;B	0.41088	0.229;0.347;0.174	T	0.15694	-1.0428	10	0.12766	T	0.61	-10.6894	11.4983	0.50422	0.0:0.0742:0.0:0.9258	.	315;432;421	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	E	421;315;421;421	ENSP00000336825:V421E;ENSP00000389891:V315E;ENSP00000261464:V421E;ENSP00000355971:V421E	ENSP00000261464:V421E	V	+	2	0	TRAF5	209612255	1.000000	0.71417	0.933000	0.37362	0.912000	0.54170	3.163000	0.50763	2.072000	0.62099	0.528000	0.53228	GTG		0.498	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		A	211545632	T	A	211545632	3	1	308	1	0	0	0	0	1	0	0	0	16449	1696	59	5	1300	5	TRAF5	1	211545632	Missense_Mutation	SNP	T	TCGA-BP-4158-01A-02D-1366-10	60286359	211545632	37704989	4	18430											
MYO7B	4648	hgsc.bcm.edu	37	2	128380888	128380888	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr2:128380888G>A	ENST00000409816.2	+	27	3711	c.3679G>A	c.(3679-3681)Gct>Act	p.A1227T	MYO7B_ENST00000389524.4_Missense_Mutation_p.A1227T|MYO7B_ENST00000428314.1_Missense_Mutation_p.A1227T|MYO7B_ENST00000409090.1_Missense_Mutation_p.A80T|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1227	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					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)		CATGCACATCGCTCACAAGCA	0.622																																																0													64	73	70					2																	128380888		2147	4244	6391	SO:0001583	missense	4648				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.3679G>A	2.37:g.128380888G>A	ENSP00000386461:p.Ala1227Thr		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	18.82	3.704595	0.68615	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	4.82	4.82	0.62117	Band 4.1 domain (1);FERM domain (1);	0.232798	0.36628	N	0.002496	D	0.88969	0.6582	M	0.85462	2.755	0.31762	N	0.633269	D	0.89917	1.0	P	0.58721	0.844	D	0.91223	0.5008	10	0.72032	D	0.01	.	16.6443	0.85172	0.0:0.0:1.0:0.0	.	1227	Q6PIF6	MYO7B_HUMAN	T	1227;1227;80;1227;80;80	ENSP00000374175:A1227T;ENSP00000415090:A1227T;ENSP00000386461:A1227T;ENSP00000404927:A80T;ENSP00000386850:A80T	ENSP00000272666:A80T	A	+	1	0	MYO7B	128097358	0.998000	0.40836	0.896000	0.35187	0.307000	0.27823	3.296000	0.51802	2.217000	0.71921	0.491000	0.48974	GCT		0.622	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		A	128380888	G	A	128380888	3	1	308	1	0	0	0	0	1	0	0	0	10085	1087	38	1	3785	1	MYO7B	2	128380888	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10		128380888	114818485	5	18431											
LRP1B	53353	hgsc.bcm.edu	37	2	141571374	141571374	+	Splice_Site	SNP	A	A	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr2:141571374A>G	ENST00000389484.3	-	32	6182	c.5211T>C	c.(5209-5211)ggT>ggC	p.G1737G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1737					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTATCGATAGACCTGTAATTA	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													88	82	84					2																	141571374		2201	4300	6501	SO:0001630	splice_region_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5210-1T>C	2.37:g.141571374A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Silent	G	141571374	A	G	141571374	5	3	308	1	0	0	0	0	0	0	1	0	8957	289	10	3	8828	3	LRP1B	2	141571374	Splice_Site	SNP	A	TCGA-BP-4158-01A-02D-1366-10	13190486	141571374	101627999	6	18432											
COL3A1	1281	hgsc.bcm.edu	37	2	189860859	189860859	+	Silent	SNP	C	C	T	rs141091206		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr2:189860859C>T	ENST00000304636.3	+	23	1787	c.1617C>T	c.(1615-1617)ccC>ccT	p.P539P	COL3A1_ENST00000317840.5_Silent_p.P539P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	539	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGGCATGCCCGGAAGTCCAG	0.343													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13923	0.0		0.0	False		,,,				2504	0.0															0								C		1,4403	2.1+/-5.4	0,1,2201	63	73	70		1617	-7.4	0.6	2	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	COL3A1	NM_000090.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		539/1467	189860859	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1617C>T	2.37:g.189860859C>T			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	CCDS2297.1																																																																																				0.343	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		T	189860859	C	T	189860859	2	4	308	1	0	0	0	0	0	0	0	1	3690	639	23	1		1	COL3A1	2	189860859	Silent	SNP	C	TCGA-BP-4158-01A-02D-1366-10	48289485	189860859	53338514	7	18433											
INO80D	54891	hgsc.bcm.edu	37	2	206882406	206882406	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr2:206882406T>A	ENST00000403263.1	-	8	1944	c.1540A>T	c.(1540-1542)Atg>Ttg	p.M514L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	514					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GAACTTACCATTTTTTTGGCA	0.388																																																0													79	78	78					2																	206882406		1842	4090	5932	SO:0001583	missense	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1540A>T	2.37:g.206882406T>A	ENSP00000384198:p.Met514Leu		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	T	34	5.297270	0.95574	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.33865	1.44;1.39	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	L	0.51422	1.61	0.80722	D	1	P	0.43024	0.798	P	0.60236	0.871	T	0.43475	-0.9389	10	0.33940	T	0.23	.	15.2432	0.73488	0.0:0.0:0.0:1.0	.	514	Q53TQ3-2	.	L	514;514;409	ENSP00000384198:M514L;ENSP00000402369:M409L	ENSP00000233270:M514L	M	-	1	0	INO80D	206590651	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.028000	0.88798	2.004000	0.58718	0.533000	0.62120	ATG		0.388	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		A	206882406	T	A	206882406	3	1	308	1	0	0	0	0	1	0	0	0	7751	1493	52	5	1559	5	INO80D	2	206882406	Missense_Mutation	SNP	T	TCGA-BP-4158-01A-02D-1366-10	17021547	206882406	36316967	8	18434											
D2HGDH	728294	hgsc.bcm.edu	37	2	242684222	242684222	+	Silent	SNP	T	T	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr2:242684222T>A	ENST00000321264.4	+	6	992	c.783T>A	c.(781-783)acT>acA	p.T261T	D2HGDH_ENST00000403782.1_Silent_p.T127T|D2HGDH_ENST00000342518.6_Silent_p.T261T|D2HGDH_ENST00000537090.1_Silent_p.T261T	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	261	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CGGAGGGCACTTTGGGGATCA	0.602																																																0													229	175	193					2																	242684222		2203	4299	6502	SO:0001819	synonymous_variant	728294			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.783T>A	2.37:g.242684222T>A			B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	T	5.516	0.280224	0.10458	.	.	ENSG00000180902	ENST00000417686	.	.	.	4.97	-2.15	0.07102	.	.	.	.	.	T	0.42337	0.1198	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30031	-0.9992	4	.	.	.	-7.5069	3.4791	0.07595	0.0977:0.2398:0.4072:0.2553	.	.	.	.	I	103	.	.	F	+	1	0	D2HGDH	242332895	0.000000	0.05858	0.989000	0.46669	0.483000	0.33249	-1.842000	0.01681	-0.413000	0.07507	-0.464000	0.05259	TTT		0.602	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		A	242684222	T	A	242684222	2	1	308	1	0	0	0	0	0	0	0	1	4215	1596	56	5		5	D2HGDH	2	242684222	Silent	SNP	T	TCGA-BP-4158-01A-02D-1366-10	35801816	242684222	515151	9	18435											
SETD5	55209	hgsc.bcm.edu;ucsc.edu	37	3	9482172	9482172	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:9482172G>C	ENST00000406341.1	+	7	790	c.600G>C	c.(598-600)gaG>gaC	p.E200D	SETD5_ENST00000302463.6_Missense_Mutation_p.E102D|SETD5_ENST00000402466.1_Missense_Mutation_p.E102D|SETD5_ENST00000407969.1_Missense_Mutation_p.E219D|SETD5_ENST00000402198.1_Missense_Mutation_p.E200D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	200										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ATTTAGATGAGAATACAACTG	0.433																																																0													57	54	55					3																	9482172		1830	4073	5903	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.600G>C	3.37:g.9482172G>C	ENSP00000383939:p.Glu200Asp		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511849	0.64522	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.92911	-2.77;-3.13;-2.77;-2.76;0.89;-3.13	5.24	3.42	0.39159	.	0.000000	0.85682	D	0.000000	D	0.90611	0.7056	L	0.27053	0.805	0.41548	D	0.98855	D;D;B	0.76494	0.999;0.994;0.22	D;D;B	0.77557	0.99;0.97;0.235	D	0.85583	0.1241	10	0.09843	T	0.71	-5.7115	9.421	0.38550	0.2551:0.0:0.7449:0.0	.	102;200;219	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	D	200;102;200;219;89;102	ENSP00000385852:E200D;ENSP00000384429:E102D;ENSP00000383939:E200D;ENSP00000384114:E219D;ENSP00000408837:E89D;ENSP00000302028:E102D	ENSP00000302028:E102D	E	+	3	2	SETD5	9457172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.124000	0.50461	0.696000	0.31696	0.563000	0.77884	GAG		0.433	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		C	9482172	G	C	9482172	3	2	308	1	0	0	0	0	1	0	0	0	14140	933	33	4	622	4	SETD5	3	9482172	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10		9482172	188540258	10	18436											
SLC6A1	6529	hgsc.bcm.edu;ucsc.edu	37	3	11067963	11067963	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:11067963G>A	ENST00000287766.4	+	10	1417	c.996G>A	c.(994-996)atG>atA	p.M332I	SLC6A1_ENST00000536032.1_Missense_Mutation_p.M154I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	332					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GCACCAGCATGTTCGCAGGAT	0.572																																																0													201	172	182					3																	11067963		2203	4300	6503	SO:0001583	missense	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.996G>A	3.37:g.11067963G>A	ENSP00000287766:p.Met332Ile		Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069746	0.55539	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.72835	-0.69;-0.69	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	N	0.05534	-0.03	0.80722	D	1	B	0.22480	0.07	B	0.23419	0.046	T	0.50651	-0.8803	10	0.33940	T	0.23	.	19.4739	0.94976	0.0:0.0:1.0:0.0	.	332	P30531	SC6A1_HUMAN	I	332;154	ENSP00000287766:M332I;ENSP00000445171:M154I	ENSP00000287766:M332I	M	+	3	0	SLC6A1	11042963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.363000	0.73082	2.697000	0.92050	0.655000	0.94253	ATG		0.572	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		A	11067963	G	A	11067963	3	1	308	1	0	0	0	0	1	0	0	0	14679	1377	48	2	1026	2	SLC6A1	3	11067963	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10	1585791	11067963	186954467	11	18437											
NBEAL2	23218	hgsc.bcm.edu	37	3	47050126	47050126	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:47050126C>A	ENST00000450053.3	+	52	8174	c.7995C>A	c.(7993-7995)gcC>gcA	p.A2665A	NBEAL2_ENST00000292309.5_Silent_p.A2481A|NBEAL2_ENST00000383740.2_Silent_p.A914A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2665					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGGGCACCGCCCAGTGCGCCC	0.567																																																0													53	58	56					3																	47050126		2011	4173	6184	SO:0001819	synonymous_variant	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7995C>A	3.37:g.47050126C>A			O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.298|9.298	1.052372|1.052372	0.19827|0.19827	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000443829	.|.	.|.	.|.	5.01|5.01	-0.895|-0.895	0.10560|0.10560	.|.	.|.	.|.	.|.	.|.	T|T	0.39809|0.39809	0.1092|0.1092	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26326|0.26326	-1.0106|-1.0106	4|4	.|.	.|.	.|.	.|.	1.0655|1.0655	0.01610|0.01610	0.1353:0.2966:0.2654:0.3027|0.1353:0.2966:0.2654:0.3027	.|.	.|.	.|.	.|.	H|T	1953|1004	.|.	.|.	P|P	+|+	2|1	0|0	NBEAL2|NBEAL2	47025130|47025130	0.081000|0.081000	0.21417|0.21417	0.992000|0.992000	0.48379|0.48379	0.966000|0.966000	0.64601|0.64601	0.311000|0.311000	0.19380|0.19380	-0.102000|-0.102000	0.12197|0.12197	-0.438000|-0.438000	0.05819|0.05819	CCC|CCA		0.567	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		A	47050126	C	A	47050126	2	1	308	1	0	0	0	0	0	0	0	1	10191	610	22	4		4	NBEAL2	3	47050126	Silent	SNP	C	TCGA-BP-4158-01A-02D-1366-10	35982163	47050126	150972304	12	18438											
ZNF589	51385	hgsc.bcm.edu	37	3	48310107	48310107	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:48310107G>A	ENST00000354698.3	+	4	998	c.926G>A	c.(925-927)tGt>tAt	p.C309Y	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	309					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCAGCCATTGTGGGCGAGGC	0.527																																					Colon(9;319 328 25374 27611 50948)											0													59	65	63					3																	48310107		2178	4296	6474	SO:0001583	missense	51385			AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"Zinc fingers, C2H2-type", "-"	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.926G>A	3.37:g.48310107G>A	ENSP00000346729:p.Cys309Tyr		Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	CCDS43085.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845236	0.51164	.	.	ENSG00000164048	ENST00000354698;ENST00000296437	D	0.85861	-2.04	1.17	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92456	0.7605	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91584	0.5281	9	0.87932	D	0	.	8.2378	0.31636	0.0:0.0:1.0:0.0	.	306;309	Q86UQ0-2;Q86UQ0	.;ZN589_HUMAN	Y	309;306	ENSP00000346729:C309Y	ENSP00000296437:C306Y	C	+	2	0	ZNF589	48285111	1.000000	0.71417	0.090000	0.20809	0.056000	0.15407	5.341000	0.65964	0.978000	0.38470	0.411000	0.27672	TGT		0.527	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		A	48310107	G	A	48310107	3	1	308	1	0	0	0	0	1	0	0	0	18026	1377	48	2	940	2	ZNF589	3	48310107	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10	1259981	48310107	149712323	13	18439											
PBRM1	55193	ucsc.edu	37	3	52649466	52649467	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	TA	TA	TA	-	TA	TA	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:52649466_52649467delTA	ENST00000296302.7	-	15	1825_1826	c.1824_1825delTA	c.(1822-1827)tataatfs	p.YN608fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.YN623fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.YN608fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.YN608fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.YN576fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.YN623fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.YN608fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.YN608fs			Q86U86	PB1_HUMAN	polybromo 1	608	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGTGCATCATTATAAACCTACA	0.347			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1824_1825delTA	3.37:g.52649468_52649469delTA	ENSP00000296302:p.Tyr608fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.347	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52649467	TA	-	52649466	7	5	308	1	0	1	0	1	0	0	0	0	11493	1754	61	0	3139	0	PBRM1	3	52649466	Frame_Shift_Del	DEL	TA	TCGA-BP-4158-01A-02D-1366-10	4339359	52649466	145372964	14	18440											
HLTF	6596	hgsc.bcm.edu;ucsc.edu	37	3	148789184	148789184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:148789184C>T	ENST00000310053.5	-	7	942	c.749G>A	c.(748-750)tGg>tAg	p.W250*	HLTF_ENST00000392912.2_Nonsense_Mutation_p.W250*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.W250*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.W250*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	250					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.W250*(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGACACCATCCAAGCTAGAGC	0.368																																																1	Substitution - Nonsense(1)	lung(1)											125	118	120					3																	148789184		2203	4300	6503	SO:0001587	stop_gained	6596			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.749G>A	3.37:g.148789184C>T	ENSP00000308944:p.Trp250*		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.182382	0.98118	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	.	.	.	5.28	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.4742	13.1552	0.59514	0.0:0.9211:0.0:0.0789	.	.	.	.	X	250;250;250;250;247;247	.	ENSP00000308944:W250X	W	-	2	0	HLTF	150271874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.929000	0.75852	1.362000	0.46000	0.655000	0.94253	TGG		0.368	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			T	148789184	C	T	148789184	4	4	308	1	0	0	0	0	0	1	0	0	7217	595	21	2	2356	2	HLTF	3	148789184	Nonsense_Mutation	SNP	C	TCGA-BP-4158-01A-02D-1366-10	96139718	148789184	49233246	15	18441											
MED12L	116931	hgsc.bcm.edu;ucsc.edu	37	3	151067920	151067920	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:151067920C>G	ENST00000474524.1	+	15	2257	c.2219C>G	c.(2218-2220)gCa>gGa	p.A740G	MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A600G	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	740						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGTGATGAAGCAAGGCATCAG	0.408																																																0													180	184	183					3																	151067920		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2219C>G	3.37:g.151067920C>G	ENSP00000417235:p.Ala740Gly		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517162	0.85495	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.63580	0.16;-0.05	5.81	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	L	0.61218	1.895	0.80722	D	1	D;B	0.67145	0.996;0.399	D;B	0.72338	0.977;0.212	T	0.78984	-0.1988	10	0.87932	D	0	-11.3747	14.6581	0.68850	0.0:0.9296:0.0:0.0704	.	600;740	F8WAE6;Q86YW9	.;MD12L_HUMAN	G	740;600	ENSP00000417235:A740G;ENSP00000273432:A600G	ENSP00000273432:A600G	A	+	2	0	MED12L	152550610	1.000000	0.71417	0.421000	0.26609	0.980000	0.70556	5.401000	0.66326	1.462000	0.47948	0.557000	0.71058	GCA		0.408	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		G	151067920	C	G	151067920	3	3	308	1	0	0	0	0	1	0	0	0	9431	710	25	4	2277	4	MED12L	3	151067920	Missense_Mutation	SNP	C	TCGA-BP-4158-01A-02D-1366-10	2278736	151067920	46954510	16	18442											
PPEF2	5470	hgsc.bcm.edu;ucsc.edu	37	4	76805891	76805891	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr4:76805891C>T	ENST00000286719.7	-	8	958	c.602G>A	c.(601-603)cGg>cAg	p.R201Q		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	201	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CACATATGACCGTTCTGGCGA	0.443																																					NSCLC(105;1359 1603 15961 44567 47947)											0													191	177	182					4																	76805891		2203	4300	6503	SO:0001583	missense	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.602G>A	4.37:g.76805891C>T	ENSP00000286719:p.Arg201Gln		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464772	0.43736	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	D	0.84370	-1.84	4.84	4.0	0.46444	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.210780	0.38778	U	0.001571	T	0.81880	0.4916	L	0.37561	1.115	0.31947	N	0.610199	D;D	0.59357	0.974;0.985	P;P	0.51999	0.687;0.572	T	0.82068	-0.0640	10	0.41790	T	0.15	-3.862	7.2423	0.26104	0.0:0.8073:0.0:0.1927	.	201;201	O14830-2;O14830	.;PPE2_HUMAN	Q	201	ENSP00000286719:R201Q	ENSP00000286719:R201Q	R	-	2	0	PPEF2	77024915	1.000000	0.71417	0.777000	0.31699	0.017000	0.09413	3.388000	0.52509	1.271000	0.44313	0.655000	0.94253	CGG		0.443	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		T	76805891	C	T	76805891	3	4	308	1	0	0	0	0	1	0	0	0	12310	652	23	1	1699	1	PPEF2	4	76805891	Missense_Mutation	SNP	C	TCGA-BP-4158-01A-02D-1366-10		76805891	114348385	17	18443											
CENPK	64105	hgsc.bcm.edu;ucsc.edu	37	5	64847410	64847410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr5:64847410C>T	ENST00000396679.1	-	5	436	c.222G>A	c.(220-222)tgG>tgA	p.W74*	CENPK_ENST00000508421.1_Nonsense_Mutation_p.W44*|CENPK_ENST00000510354.1_Nonsense_Mutation_p.W74*|CENPK_ENST00000506282.2_Intron|CENPK_ENST00000514814.1_Nonsense_Mutation_p.W74*|CENPK_ENST00000510693.1_Nonsense_Mutation_p.W44*|CENPK_ENST00000242872.3_Nonsense_Mutation_p.W74*	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	74				W -> G (in Ref. 3; AAG31004). {ECO:0000305}.	CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TTTTTTTCTGCCATTGACTGA	0.259																																																0													66	67	67					5																	64847410		2201	4294	6495	SO:0001587	stop_gained	64105			BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.222G>A	5.37:g.64847410C>T	ENSP00000379911:p.Trp74*		Q9H4L0	Nonsense_Mutation	SNP	ENST00000396679.1	37	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	C	37	6.182444	0.97357	.	.	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693;ENST00000515497;ENST00000502997;ENST00000510354	.	.	.	6.05	6.05	0.98169	.	0.109380	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9198	16.1014	0.81175	0.0:1.0:0.0:0.0	.	.	.	.	X	74;74;74;44;44;76;74;74	.	ENSP00000242872:W74X	W	-	3	0	CENPK	64883166	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.891000	0.56227	2.878000	0.98634	0.650000	0.86243	TGG		0.259	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145		T	64847410	C	T	64847410	4	4	308	1	0	0	0	0	0	1	0	0	3237	740	26	2	615	2	CENPK	5	64847410	Nonsense_Mutation	SNP	C	TCGA-BP-4158-01A-02D-1366-10		64847410	116067850	18	18444											
HSPA9	3313	hgsc.bcm.edu;ucsc.edu	37	5	137902712	137902712	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr5:137902712A>G	ENST00000297185.3	-	8	982	c.857T>C	c.(856-858)aTt>aCt	p.I286T	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	286					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCTTCACAATGTGCCGTAG	0.413																																																0													150	158	155					5																	137902712		2203	4300	6503	SO:0001583	missense	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.857T>C	5.37:g.137902712A>G	ENSP00000297185:p.Ile286Thr		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757356	0.89843	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.01084	5.36	5.2	5.2	0.72013	.	0.046361	0.85682	D	0.000000	T	0.08537	0.0212	H	0.96777	3.88	0.80722	D	1	P;P	0.49862	0.661;0.929	P;P	0.51297	0.574;0.665	T	0.01356	-1.1376	10	0.87932	D	0	-16.368	15.03	0.71698	1.0:0.0:0.0:0.0	.	217;286	B7Z1V7;P38646	.;GRP75_HUMAN	T	286;239;272	ENSP00000297185:I286T	ENSP00000297185:I286T	I	-	2	0	HSPA9	137930611	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.201000	0.95017	2.075000	0.62263	0.533000	0.62120	ATT		0.413	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		G	137902712	A	G	137902712	3	3	308	1	0	0	0	0	1	0	0	0	7419	101	4	3	1222	3	HSPA9	5	137902712	Missense_Mutation	SNP	A	TCGA-BP-4158-01A-02D-1366-10	73055302	137902712	43012548	19	18445											
PPP2R5D	5528	hgsc.bcm.edu;ucsc.edu	37	6	42975942	42975942	+	Silent	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr6:42975942C>T	ENST00000485511.1	+	8	1040	c.861C>T	c.(859-861)ttC>ttT	p.F287F	PPP2R5D_ENST00000461010.1_Silent_p.F181F|PPP2R5D_ENST00000394110.3_Silent_p.F255F|PPP2R5D_ENST00000472118.1_Silent_p.F279F	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	287					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCTCAGGTTCATCTACGAGA	0.582																																					Melanoma(63;587 1613 29742 31770)											0													142	145	144					6																	42975942		2203	4300	6503	SO:0001819	synonymous_variant	5528			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.861C>T	6.37:g.42975942C>T			A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	7.538	0.660103	0.14645	.	.	ENSG00000112640	ENST00000470467	.	.	.	5.84	1.5	0.22942	.	.	.	.	.	T	0.45418	0.1341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39643	-0.9604	4	.	.	.	-23.3938	10.4646	0.44600	0.0:0.6125:0.0:0.3875	.	.	.	.	Y	207	.	.	H	+	1	0	PPP2R5D	43083920	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.569000	0.36428	0.367000	0.24454	-0.150000	0.13652	CAT		0.582	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		T	42975942	C	T	42975942	2	4	308	1	0	0	0	0	0	0	0	1	12400	825	29	2		2	PPP2R5D	6	42975942	Silent	SNP	C	TCGA-BP-4158-01A-02D-1366-10		42975942	128139125	20	18446											
RUNX2	860	hgsc.bcm.edu	37	6	45514873	45514873	+	Missense_Mutation	SNP	C	C	A	rs144852234		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr6:45514873C>A	ENST00000371438.1	+	8	1755	c.1397C>A	c.(1396-1398)cCt>cAt	p.P466H	RUNX2_ENST00000371432.3_Missense_Mutation_p.P430H|RUNX2_ENST00000541979.1_Missense_Mutation_p.P512H|RUNX2_ENST00000352853.5_Missense_Mutation_p.P534H|RUNX2_ENST00000371436.6_Missense_Mutation_p.P444H|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000359524.5_Missense_Mutation_p.P452H|RUNX2_ENST00000465038.2_Missense_Mutation_p.P466H	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	466	Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P466L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GACCGGTCTCCTTCCAGAATG	0.532																																																1	Substitution - Missense(1)	skin(1)											92	84	87					6																	45514873		2203	4300	6503	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1397C>A	6.37:g.45514873C>A	ENSP00000360493:p.Pro466His		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895753	0.72639	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.77	5.77	0.91146	Runx inhibition (1);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.72004	-0.4421	10	0.87932	D	0	-6.17	20.3627	0.98863	0.0:1.0:0.0:0.0	.	512;466;452	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	H	466;534;512;466;444;452;430	ENSP00000420707:P466H;ENSP00000319087:P534H;ENSP00000446290:P512H;ENSP00000360493:P466H;ENSP00000360491:P444H;ENSP00000352514:P452H;ENSP00000360486:P430H	ENSP00000319087:P534H	P	+	2	0	RUNX2	45622851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	CCT		0.532	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		A	45514873	C	A	45514873	3	1	308	1	0	0	0	0	1	0	0	0	13754	681	24	4	1443	4	RUNX2	6	45514873	Missense_Mutation	SNP	C	TCGA-BP-4158-01A-02D-1366-10	2538931	45514873	125600194	21	18447											
EYS	346007	hgsc.bcm.edu;ucsc.edu	37	6	66205285	66205285	+	Missense_Mutation	SNP	C	C	T	rs377622148		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr6:66205285C>T	ENST00000370621.3	-	4	545	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	EYS_ENST00000370618.3_Missense_Mutation_p.V7I|EYS_ENST00000370616.2_Missense_Mutation_p.V7I|EYS_ENST00000342421.5_Missense_Mutation_p.V7I|EYS_ENST00000503581.1_Missense_Mutation_p.V7I|EYS_ENST00000393380.2_Missense_Mutation_p.V7I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	7					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTCAGAATGACGATTGATTTG	0.368																																																0								T	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	62	60	61		19,19,19	0.5	0	6		61	1,8599	817.6+/-406.9	0,1,4299	no	missense,missense,missense	EYS	NM_198283.1,NM_001142801.1,NM_001142800.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	7/595,7/620,7/3145	66205285	1,13005	2203	4300	6503	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.19G>A	6.37:g.66205285C>T	ENSP00000359655:p.Val7Ile		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	T	0.403	-0.917481	0.02396	0.0	1.16E-4	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89810	-1.59;-1.57;-1.57;-2.57;-2.52;-2.52	4.48	0.519	0.17035	.	.	.	.	.	T	0.45856	0.1363	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.45687	-0.9244	9	0.05721	T	0.95	.	3.4454	0.07478	0.1922:0.3504:0.0:0.4574	.	7;7;7	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	7	ENSP00000424243:V7I;ENSP00000359655:V7I;ENSP00000359650:V7I;ENSP00000377042:V7I;ENSP00000341818:V7I;ENSP00000359652:V7I	ENSP00000341818:V7I	V	-	1	0	EYS	66262006	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-0.199000	0.09491	-0.412000	0.07519	-1.496000	0.00964	GTC		0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		T	66205285	C	T	66205285	3	4	308	1	0	0	0	0	1	0	0	0	5334	536	19	1	9537	1	EYS	6	66205285	Missense_Mutation	SNP	C	TCGA-BP-4158-01A-02D-1366-10	20690412	66205285	104909782	22	18448											
CHN2	1124	hgsc.bcm.edu;ucsc.edu	37	7	29407578	29407578	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr7:29407578C>G	ENST00000222792.6	+	3	649	c.119C>G	c.(118-120)cCc>cGc	p.P40R	CHN2_ENST00000539389.1_Missense_Mutation_p.P40R|CHN2_ENST00000495789.2_Missense_Mutation_p.P53R|CHN2_ENST00000539406.1_Missense_Mutation_p.P115R|CHN2_ENST00000435288.2_Missense_Mutation_p.P40R|CHN2_ENST00000546235.1_Missense_Mutation_p.P25R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	40					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCACCTCGTCCCAAGAGAATC	0.413																																					Ovarian(1;44 48 13232 18918 31480)											0													114	111	112					7																	29407578		2203	4300	6503	SO:0001583	missense	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.119C>G	7.37:g.29407578C>G	ENSP00000222792:p.Pro40Arg		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085735	0.76642	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000539389;ENST00000546235	T;T;T;T;T;T;T;T	0.71103	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.54;-0.05	5.12	5.12	0.69794	.	0.250879	0.40144	N	0.001168	D	0.83769	0.5326	M	0.76574	2.34	0.80722	D	1	D;D;D;B;D	0.89917	1.0;0.998;1.0;0.004;0.998	D;D;D;B;D	0.97110	1.0;0.987;0.998;0.003;0.987	D	0.85912	0.1441	10	0.87932	D	0	.	16.3346	0.83053	0.0:1.0:0.0:0.0	.	25;53;115;40;40	B7Z1W9;B7Z1V0;F5H003;B3VCG1;P52757	.;.;.;.;CHIO_HUMAN	R	115;115;40;40;53;53;40;25	ENSP00000409843:P115R;ENSP00000444063:P115R;ENSP00000222792:P40R;ENSP00000400282:P40R;ENSP00000386968:P53R;ENSP00000438587:P53R;ENSP00000440526:P40R;ENSP00000442812:P25R	ENSP00000222792:P40R	P	+	2	0	CHN2	29374103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.472000	0.66768	2.388000	0.81334	0.585000	0.79938	CCC		0.413	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		G	29407578	C	G	29407578	3	3	308	1	0	0	0	0	1	0	0	0	3365	623	22	4	129	4	CHN2	7	29407578	Missense_Mutation	SNP	C	TCGA-BP-4158-01A-02D-1366-10		29407578	129731085	23	18449											
ZP3	7784	hgsc.bcm.edu	37	7	76071183	76071184	+	Frame_Shift_Ins	INS	-	-	G	rs375263236		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr7:76071183_76071184insG	ENST00000394857.3	+	8	1143_1144	c.1085_1086insG	c.(1084-1089)gtggggfs	p.VG362fs	ZP3_ENST00000416245.1_Frame_Shift_Ins_p.VG186fs|ZP3_ENST00000467555.1_3'UTR|ZP3_ENST00000336517.4_Frame_Shift_Ins_p.VG311fs	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	362					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GATGTCACCGTGGGGCCACTGA	0.545																																																0																																										SO:0001589	frameshift_variant	7784			M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.1089dupG	7.37:g.76071187_76071187dupG	ENSP00000378326:p.Val362fs		Q06633|Q29RW0	Frame_Shift_Ins	INS	ENST00000394857.3	37	CCDS47618.1																																																																																				0.545	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			G	76071184	-	G	76071183	7	5	308	1	0	1	1	0	0	0	0	0	18222	1696	59	0	1115	0	ZP3	7	76071183	Frame_Shift_Ins	INS	-	TCGA-BP-4158-01A-02D-1366-10	46663605	76071183	83067480	24	18450											
SRRT	51593	hgsc.bcm.edu	37	7	100478987	100478987	+	Silent	SNP	A	A	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr7:100478987A>G	ENST00000347433.4	+	3	362	c.204A>G	c.(202-204)ccA>ccG	p.P68P	SRRT_ENST00000388793.4_Silent_p.P68P|SRRT_ENST00000432932.1_Silent_p.P68P|SRRT_ENST00000457580.2_Silent_p.P68P			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	68	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCTTCTCGCCACCTCGCCACG	0.612																																																0													54	51	52					7																	100478987		2203	4300	6503	SO:0001819	synonymous_variant	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.204A>G	7.37:g.100478987A>G			A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	CCDS34709.1																																																																																				0.612	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		G	100478987	A	G	100478987	2	3	308	1	0	0	0	0	0	0	0	1	15177	146	6	3		3	SRRT	7	100478987	Silent	SNP	A	TCGA-BP-4158-01A-02D-1366-10	24407804	100478987	58659676	25	18451											
PSMC2	5701	hgsc.bcm.edu;ucsc.edu	37	7	103004703	103004703	+	Silent	SNP	G	G	T	rs144680798		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr7:103004703G>T	ENST00000435765.1	+	9	1116	c.705G>T	c.(703-705)gcG>gcT	p.A235A	PSMC2_ENST00000292644.3_Silent_p.A235A|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Silent_p.A98A|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	235					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)|ATP catabolic process (GO:0006200)|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)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GGACTGATGCGTGCTTCATTC	0.468																																																0													122	114	117					7																	103004703		2203	4300	6503	SO:0001819	synonymous_variant	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.705G>T	7.37:g.103004703G>T			A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	CCDS5731.1																																																																																				0.468	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		T	103004703	G	T	103004703	2	4	308	1	0	0	0	0	0	0	0	1	12691	1132	40	4		4	PSMC2	7	103004703	Silent	SNP	G	TCGA-BP-4158-01A-02D-1366-10	2525716	103004703	56133960	26	18452											
FBXO43	286151	hgsc.bcm.edu	37	8	101153258	101153258	+	Silent	SNP	T	T	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr8:101153258T>C	ENST00000428847.2	-	2	1540	c.1224A>G	c.(1222-1224)gaA>gaG	p.E408E		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	408					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTGCTCTTTTTTCAGAGTCAG	0.483																																																0													105	105	105					8																	101153258		1989	4185	6174	SO:0001819	synonymous_variant	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1224A>G	8.37:g.101153258T>C				Silent	SNP	ENST00000428847.2	37	CCDS47904.1																																																																																				0.483	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		C	101153258	T	C	101153258	2	2	308	1	0	0	0	0	0	0	0	1	5754	1838	64	3		3	FBXO43	8	101153258	Silent	SNP	T	TCGA-BP-4158-01A-02D-1366-10		101153258	45210764	27	18453											
TNFRSF11B	4982	hgsc.bcm.edu;ucsc.edu	37	8	119938824	119938824	+	Silent	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr8:119938824C>T	ENST00000297350.4	-	4	1104	c.726G>A	c.(724-726)cgG>cgA	p.R242R		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	242	Death 1.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AGCTGTGTTGCCGTTTTATCC	0.413																																																0													242	227	232					8																	119938824		2203	4300	6503	SO:0001819	synonymous_variant	4982			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.726G>A	8.37:g.119938824C>T			B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	CCDS6326.1																																																																																				0.413	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			T	119938824	C	T	119938824	2	4	308	1	0	0	0	0	0	0	0	1	16290	726	26	2		2	TNFRSF11B	8	119938824	Silent	SNP	C	TCGA-BP-4158-01A-02D-1366-10	18785566	119938824	26425198	28	18454											
PHF20L1	51105	hgsc.bcm.edu;ucsc.edu	37	8	133807018	133807018	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr8:133807018G>C	ENST00000395386.2	+	4	594	c.295G>C	c.(295-297)Gac>Cac	p.D99H	PHF20L1_ENST00000395379.1_Missense_Mutation_p.D99H|PHF20L1_ENST00000395376.1_Missense_Mutation_p.D99H|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.D99H|PHF20L1_ENST00000337920.4_Missense_Mutation_p.D99H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	99	Tudor 2.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCGTTGGACAGACTGTCGCTA	0.303																																																0													55	58	57					8																	133807018		2203	4300	6503	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.295G>C	8.37:g.133807018G>C	ENSP00000378784:p.Asp99His		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800883	0.90538	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000522580;ENST00000395390	T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.78	5.78	0.91487	Tudor-like, plant (1);Tudor domain (1);	0.086990	0.85682	D	0.000000	T	0.76456	0.3990	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.99;1.0;0.999;0.999	T	0.79024	-0.1972	10	0.87932	D	0	-6.5086	19.0054	0.92848	0.0:0.0:1.0:0.0	.	99;99;99;99;99	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	H	99;99;99;99;99;99;99;57;99	ENSP00000378781:D99H;ENSP00000378777:D99H;ENSP00000355301:D99H;ENSP00000378784:D99H;ENSP00000324519:D99H;ENSP00000338269:D99H;ENSP00000378775:D99H;ENSP00000428091:D57H;ENSP00000378788:D99H	ENSP00000324519:D99H	D	+	1	0	PHF20L1	133876200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.824000	0.99380	2.731000	0.93534	0.557000	0.71058	GAC		0.303	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		C	133807018	G	C	133807018	3	2	308	1	0	0	0	0	1	0	0	0	11834	942	33	4	305	4	PHF20L1	8	133807018	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10	13868194	133807018	12557004	29	18455											
DFNB31	25861	hgsc.bcm.edu	37	9	117166206	117166206	+	Missense_Mutation	SNP	G	G	T	rs2274158	byFrequency	TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr9:117166206G>T	ENST00000362057.3	-	10	2556	c.2388C>A	c.(2386-2388)aaC>aaA	p.N796K	DFNB31_ENST00000374059.3_Missense_Mutation_p.N445K|DFNB31_ENST00000265134.6_Missense_Mutation_p.N413K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	796			N -> K (in dbSNP:rs2274158).		inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGCCTCTCGTTCCGAGGCA	0.652													G|||	1114	0.222444	0.0507	0.3213	5008	,	,		18204	0.3472		0.2167	False		,,,				2504	0.2618															0								G	LYS/ASN,LYS/ASN,LYS/ASN	353,4053	182.6+/-210.3	11,331,1861	115	100	105	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1239,2385,2388	-7.5	0	9	dbSNP_100	105	1987,6613	346.0+/-326.0	213,1561,2526	yes	missense,missense,missense	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	94,94,94	224,1892,4387	TT,TG,GG		23.1047,8.0118,17.9917	benign,benign,benign	413/525,795/907,796/908	117166206	2340,10666	2203	4300	6503	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2388C>A	9.37:g.117166206G>T	ENSP00000354623:p.Asn796Lys		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	512	0.23443223443223443	31	0.06300813008130081	109	0.3011049723756906	207	0.3618881118881119	165	0.21767810026385223	G	2.127	-0.399968	0.04865	0.080118	0.231047	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.06371	4.2;4.18;3.31	5.03	-7.49	0.01355	PDZ/DHR/GLGF (1);	0.596241	0.16860	N	0.196549	T	0.00012	0.0000	L	0.29908	0.895	0.27905	P	0.9388432	B;B;B	0.17667	0.01;0.013;0.023	B;B;B	0.24155	0.005;0.005;0.051	T	0.43893	-0.9363	9	0.16420	T	0.52	-6.4945	4.6597	0.12636	0.5065:0.2391:0.1757:0.0786	rs2274158;rs58851791;rs2274158	795;796;445	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	K	413;445;796	ENSP00000265134:N413K;ENSP00000363172:N445K;ENSP00000354623:N796K	ENSP00000265134:N413K	N	-	3	2	DFNB31	116206027	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-2.700000	0.00824	-1.629000	0.01546	-1.523000	0.00931	AAC		0.652	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		T	117166206	G	T	117166206	3	4	308	1	0	0	0	0	1	0	0	0	4457	1136	40	4	347	4	DFNB31	9	117166206	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10		117166206	24047225	30	18456											
LAMC3	10319	hgsc.bcm.edu;ucsc.edu	37	9	133942465	133942465	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr9:133942465C>A	ENST00000361069.4	+	14	2599	c.2466C>A	c.(2464-2466)ggC>ggA	p.G822G	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	822	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ATGCCGTGGGCAACTGTGACC	0.647																																																0													76	63	67					9																	133942465		2203	4300	6503	SO:0001819	synonymous_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2466C>A	9.37:g.133942465C>A			B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																				0.647	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		A	133942465	C	A	133942465	2	1	308	1	0	0	0	0	0	0	0	1	8618	697	25	4		4	LAMC3	9	133942465	Silent	SNP	C	TCGA-BP-4158-01A-02D-1366-10	16776259	133942465	7270966	31	18457											
RET	5979	hgsc.bcm.edu	37	10	43602000	43602000	+	Silent	SNP	G	G	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr10:43602000G>C	ENST00000355710.3	+	5	1276	c.1044G>C	c.(1042-1044)cgG>cgC	p.R348R	RET_ENST00000340058.5_Silent_p.R348R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	348					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R348R(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCTTCGTGCGGGCGACCGTAC	0.647		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	1	Substitution - coding silent(1)	lung(1)											43	41	41					10																	43602000		2203	4299	6502	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1044G>C	10.37:g.43602000G>C			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																				0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		C	43602000	G	C	43602000	2	2	308	1	0	0	0	0	0	0	0	1	13241	1219	43	4		4	RET	10	43602000	Silent	SNP	G	TCGA-BP-4158-01A-02D-1366-10		43602000	91932747	32	18458											
C10orf54	64115	hgsc.bcm.edu	37	10	73521776	73521776	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr10:73521776C>A	ENST00000394957.3	-	2	148	c.90G>T	c.(88-90)gtG>gtT	p.V30V	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'Flank	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	30					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.V30V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TGAAGGCTGCCACCGGACCTG	0.612																																																1	Substitution - coding silent(1)	breast(1)											34	32	33					10																	73521776		2203	4300	6503	SO:0001819	synonymous_variant	64115			AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.90G>T	10.37:g.73521776C>A			A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Silent	SNP	ENST00000394957.3	37	CCDS31218.1																																																																																				0.612	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		A	73521776	C	A	73521776	2	1	308	1	0	0	0	0	0	0	0	1	1609	581	21	4		4	C10orf54	10	73521776	Silent	SNP	C	TCGA-BP-4158-01A-02D-1366-10	29919776	73521776	62012971	33	18459											
C10orf93	54777	hgsc.bcm.edu;ucsc.edu	37	10	134755189	134755189	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr10:134755189A>C	ENST00000368586.5	-	3	312	c.212T>G	c.(211-213)aTg>aGg	p.M71R	RP13-137A17.4_ENST00000443633.1_lincRNA|TTC40_ENST00000368582.2_Missense_Mutation_p.M71R|TTC40_ENST00000368585.3_Missense_Mutation_p.M71R	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTTGAAGTACATTTGGATGCA	0.602																																																0													84	79	81					10																	134755189		2202	4300	6502	SO:0001583	missense	0																														ENST00000368586.5:c.212T>G	10.37:g.134755189A>C	ENSP00000357575:p.Met71Arg			Missense_Mutation	SNP	ENST00000368586.5	37	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.408429	0.62399	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.83075	-1.68;-1.68;-1.68	4.45	4.45	0.53987	.	0.243724	0.34025	N	0.004327	D	0.87285	0.6139	L	0.55481	1.735	0.33596	D	0.601683	D;D	0.71674	0.995;0.998	P;P	0.62649	0.77;0.905	D	0.91504	0.5221	10	0.87932	D	0	.	13.3624	0.60663	1.0:0.0:0.0:0.0	.	71;71	Q5SR76-2;Q5SR76-1	.;.	R	71	ENSP00000357575:M71R;ENSP00000357571:M71R;ENSP00000357574:M71R	ENSP00000357571:M71R	M	-	2	0	C10orf93	134605179	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	3.938000	0.56583	1.933000	0.56026	0.528000	0.53228	ATG		0.602	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			C	134755189	A	C	134755189	3	2	308	1	0	0	0	0	1	0	0	0	1627	217	8	5	1033	5	C10orf93	10	134755189	Missense_Mutation	SNP	A	TCGA-BP-4158-01A-02D-1366-10	61233413	134755189	779558	34	18460											
PHF21A	51317	hgsc.bcm.edu	37	11	45955639	45955639	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr11:45955639C>A	ENST00000418153.2	-	18	2122	c.1923G>T	c.(1921-1923)ggG>ggT	p.G641G	PHF21A_ENST00000257821.4_Silent_p.G642G|PHF21A_ENST00000323180.6_Silent_p.G595G			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	641	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGGAGATGGCCCCCACAGTGG	0.622																																																0													50	56	54					11																	45955639		2202	4299	6501	SO:0001819	synonymous_variant	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1923G>T	11.37:g.45955639C>A			D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	CCDS44578.1																																																																																				0.622	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		A	45955639	C	A	45955639	2	1	308	1	0	0	0	0	0	0	0	1	11835	610	22	4		4	PHF21A	11	45955639	Silent	SNP	C	TCGA-BP-4158-01A-02D-1366-10		45955639	89050877	35	18461											
ATG2A	23130	hgsc.bcm.edu	37	11	64681629	64681629	+	Silent	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr11:64681629C>T	ENST00000377264.3	-	3	523	c.411G>A	c.(409-411)cgG>cgA	p.R137R	ATG2A_ENST00000421419.2_Silent_p.R137R	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	137					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTAGCCCATCCCGCAGACACT	0.652																																																0													23	25	25					11																	64681629		2134	4202	6336	SO:0001819	synonymous_variant	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.411G>A	11.37:g.64681629C>T			O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1																																																																																				0.652	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		T	64681629	C	T	64681629	2	4	308	1	0	0	0	0	0	0	0	1	1093	610	22	2		2	ATG2A	11	64681629	Silent	SNP	C	TCGA-BP-4158-01A-02D-1366-10	18725990	64681629	70324887	36	18462											
CARD17	440068	hgsc.bcm.edu;ucsc.edu	37	11	104971442	104971442	+	Silent	SNP	G	G	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr11:104971442G>A	ENST00000375707.1	-	2	88	c.72C>T	c.(70-72)ggC>ggT	p.G24G	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	24	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CACCCAGTAAGCCATTTATTG	0.433																																																0													208	196	200					11																	104971442		2202	4299	6501	SO:0001819	synonymous_variant	440068				CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"Inhibitory CARD"	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.72C>T	11.37:g.104971442G>A				Silent	SNP	ENST00000375707.1	37	CCDS31662.1																																																																																				0.433	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		A	104971442	G	A	104971442	2	1	308	1	0	0	0	0	0	0	0	1	2650	958	34	2		2	CARD17	11	104971442	Silent	SNP	G	TCGA-BP-4158-01A-02D-1366-10	40289813	104971442	30035074	37	18463											
C1R	715	hgsc.bcm.edu	37	12	7188437	7188437	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr12:7188437G>T	ENST00000542285.1	-	11	1510	c.1361C>A	c.(1360-1362)cCc>cAc	p.P454H				P00736	C1R_HUMAN	complement component 1, r subcomponent	506					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTGTTCCTTGGGATACAGGGT	0.612																																																0													63	67	66					12																	7188437		2183	4294	6477	SO:0001583	missense	715			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"Complement system"	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1361C>A	12.37:g.7188437G>T	ENSP00000438615:p.Pro454His		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37		.	.	.	.	.	.	.	.	.	.	G	15.46	2.841332	0.51057	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.88277	-2.36	4.99	4.99	0.66335	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.87513	0.6196	.	.	.	0.30895	N	0.729869	P	0.37207	0.587	B	0.40134	0.32	D	0.86827	0.2008	9	0.40728	T	0.16	.	18.2735	0.90076	0.0:0.0:1.0:0.0	.	506	P00736	C1R_HUMAN	H	469;454	ENSP00000438615:P454H	ENSP00000290575:P469H	P	-	2	0	C1R	7058692	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	6.287000	0.72671	2.286000	0.76751	0.591000	0.81541	CCC		0.612	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		T	7188437	G	T	7188437	3	4	308	1	0	0	0	0	1	0	0	0	1974	1232	43	4	604	4	C1R	12	7188437	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10		7188437	126663458	38	18464											
FAM179B	23116	hgsc.bcm.edu	37	14	45473301	45473301	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr14:45473301A>C	ENST00000361577.3	+	4	2590	c.2376A>C	c.(2374-2376)caA>caC	p.Q792H	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.Q792H|FAM179B_ENST00000361462.2_Missense_Mutation_p.Q792H	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	792										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGACACAGCAAACATTTGGTA	0.353																																																0													87	75	79					14																	45473301		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2376A>C	14.37:g.45473301A>C	ENSP00000355045:p.Gln792His		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576433	0.65878	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.12984	2.63;2.63;3.84;3.84	5.56	-2.87	0.05700	Armadillo-type fold (1);	0.386121	0.24481	N	0.038141	T	0.08403	0.0209	N	0.24115	0.695	0.23546	N	0.997447	P;P;P	0.48016	0.846;0.904;0.904	B;B;B	0.40329	0.326;0.326;0.243	T	0.26430	-1.0103	10	0.66056	D	0.02	-3.1966	12.3803	0.55303	0.5906:0.0:0.4094:0.0	.	792;792;792	G3XAE9;Q9Y4F4;Q9Y4F4-2	.;F179B_HUMAN;.	H	792;792;792;792;111	ENSP00000355045:Q792H;ENSP00000354917:Q792H;ENSP00000371668:Q792H;ENSP00000451141:Q111H	ENSP00000354917:Q792H	Q	+	3	2	FAM179B	44543051	0.957000	0.32711	0.953000	0.39169	0.996000	0.88848	0.460000	0.21924	-0.443000	0.07180	0.460000	0.39030	CAA		0.353	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		C	45473301	A	C	45473301	3	2	308	1	0	0	0	0	1	0	0	0	5508	11	1	5	2390	5	FAM179B	14	45473301	Missense_Mutation	SNP	A	TCGA-BP-4158-01A-02D-1366-10		45473301	61876239	39	18465											
PACS2	23241	hgsc.bcm.edu	37	14	105850749	105850749	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr14:105850749C>A	ENST00000325438.8	+	17	2332	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K	PACS2_ENST00000447393.1_Missense_Mutation_p.Q614K|PACS2_ENST00000430725.2_Missense_Mutation_p.Q535K|PACS2_ENST00000551743.1_Missense_Mutation_p.Q124K|PACS2_ENST00000547217.1_Missense_Mutation_p.Q580K|PACS2_ENST00000458164.2_Missense_Mutation_p.Q614K			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	610					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CAACTTCTTCCAGGACCTGGC	0.682																																																0													50	41	44					14																	105850749		2202	4299	6501	SO:0001583	missense	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1828C>A	14.37:g.105850749C>A	ENSP00000321834:p.Gln610Lys		A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444746	0.63178	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.44542	1.39	0.54753	D	0.999982	P;B;P;P	0.52170	0.589;0.354;0.951;0.775	B;B;P;B	0.54100	0.216;0.138;0.742;0.438	T	0.29027	-1.0025	10	0.05833	T	0.94	-23.3375	15.9729	0.80034	0.0:1.0:0.0:0.0	.	614;614;610;611	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	K	535;610;614;614;580;124	ENSP00000393524:Q535K;ENSP00000321834:Q610K;ENSP00000399732:Q614K;ENSP00000393559:Q614K;ENSP00000449525:Q580K;ENSP00000449254:Q124K	ENSP00000321834:Q610K	Q	+	1	0	PACS2	104921794	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.552000	0.60747	2.178000	0.69098	0.655000	0.94253	CAG		0.682	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		A	105850749	C	A	105850749	3	1	308	1	0	0	0	0	1	0	0	0	11375	595	21	4	1906	4	PACS2	14	105850749	Missense_Mutation	SNP	C	TCGA-BP-4158-01A-02D-1366-10	60377448	105850749	1498791	40	18466											
TRPM1	4308	hgsc.bcm.edu	37	15	31318395	31318395	+	Silent	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr15:31318395C>T	ENST00000256552.6	-	27	3723	c.3576G>A	c.(3574-3576)aaG>aaA	p.K1192K	TRPM1_ENST00000542188.1_Silent_p.K1209K|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Silent_p.K1170K	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.K1170K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCTCATCCTCCTTCTCCCGGA	0.602																																																1	Substitution - coding silent(1)	ovary(1)											58	61	60					15																	31318395		2127	4242	6369	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3576G>A	15.37:g.31318395C>T				Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																				0.602	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31318395	C	T	31318395	2	4	308	1	0	0	0	0	0	0	0	1	16590	680	24	2		2	TRPM1	15	31318395	Silent	SNP	C	TCGA-BP-4158-01A-02D-1366-10		31318395	71212997	41	18467											
SPTBN5	51332	hgsc.bcm.edu	37	15	42179542	42179542	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr15:42179542G>T	ENST00000320955.6	-	6	984	c.757C>A	c.(757-759)Cag>Aag	p.Q253K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	253	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCAGCAGCTGAGCAATGCCC	0.612																																																0													19	25	23					15																	42179542		2039	4084	6123	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.757C>A	15.37:g.42179542G>T	ENSP00000317790:p.Gln253Lys			Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	G	2.350	-0.349054	0.05208	.	.	ENSG00000137877	ENST00000320955	D	0.94723	-3.5	4.58	3.56	0.40772	Calponin homology domain (5);	0.346769	0.22196	N	0.063320	T	0.78923	0.4360	N	0.00237	-1.79	0.09310	N	1	P	0.35684	0.515	B	0.42319	0.383	T	0.75099	-0.3437	10	0.02654	T	1	.	11.4041	0.49887	0.0:0.0:0.6828:0.3172	.	253	Q9NRC6	SPTN5_HUMAN	K	253	ENSP00000317790:Q253K	ENSP00000317790:Q253K	Q	-	1	0	SPTBN5	39966834	0.170000	0.23016	0.928000	0.36995	0.648000	0.38561	1.616000	0.36933	2.102000	0.63906	0.655000	0.94253	CAG		0.612	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		T	42179542	G	T	42179542	3	4	308	1	0	0	0	0	1	0	0	0	15127	1299	45	4	10519	4	SPTBN5	15	42179542	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10	10861147	42179542	60351850	42	18468											
SRRM2	23524	hgsc.bcm.edu;ucsc.edu	37	16	2807887	2807887	+	Silent	SNP	T	T	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr16:2807887T>C	ENST00000301740.8	+	4	1005	c.456T>C	c.(454-456)gaT>gaC	p.D152D		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	152					mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						gctcttttGATCCTCAGCGTC	0.478																																																0													92	91	91					16																	2807887		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.456T>C	16.37:g.2807887T>C			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.478	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			C	2807887	T	C	2807887	2	2	308	1	0	0	0	0	0	0	0	1	15174	1432	50	3		3	SRRM2	16	2807887	Silent	SNP	T	TCGA-BP-4158-01A-02D-1366-10		2807887	87546866	43	18469											
ZNF768	79724	hgsc.bcm.edu;ucsc.edu	37	16	30536622	30536622	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr16:30536622T>A	ENST00000380412.5	-	2	1014	c.839A>T	c.(838-840)cAg>cTg	p.Q280L	ZNF768_ENST00000562803.1_Missense_Mutation_p.Q249L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	280					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GTGGATGCGCTGGTGCTGGAT	0.657																																																0													66	65	65					16																	30536622		2197	4300	6497	SO:0001583	missense	79724			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.839A>T	16.37:g.30536622T>A	ENSP00000369777:p.Gln280Leu		Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	T	16.48	3.135608	0.56828	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.05580	3.42	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000425	T	0.03608	0.0103	N	0.13352	0.335	0.33715	D	0.616285	B	0.29552	0.248	B	0.20384	0.029	T	0.16958	-1.0385	10	0.62326	D	0.03	-13.1347	6.1078	0.20084	0.0:0.1773:0.0:0.8227	.	280	Q9H5H4	ZN768_HUMAN	L	280;249	ENSP00000369777:Q280L	ENSP00000369777:Q280L	Q	-	2	0	ZNF768	30444123	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.244000	0.43124	2.102000	0.63906	0.379000	0.24179	CAG		0.657	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		A	30536622	T	A	30536622	3	1	308	1	0	0	0	0	1	0	0	0	18146	1580	55	5	787	5	ZNF768	16	30536622	Missense_Mutation	SNP	T	TCGA-BP-4158-01A-02D-1366-10	27728735	30536622	59818131	44	18470											
RNF40	9810	hgsc.bcm.edu	37	16	30773995	30773995	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr16:30773995C>A	ENST00000324685.6	+	2	564	c.129C>A	c.(127-129)tcC>tcA	p.S43S	RNF40_ENST00000563683.1_Silent_p.S43S|RNF40_ENST00000357890.5_Silent_p.S43S|C16orf93_ENST00000541260.1_5'Flank|C16orf93_ENST00000543610.1_5'UTR|RNF40_ENST00000402121.3_Silent_p.S43S|C16orf93_ENST00000545825.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	43					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCATCTCTTCCACGGTTCGTG	0.582																																																0													61	56	58					16																	30773995		2197	4300	6497	SO:0001819	synonymous_variant	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.129C>A	16.37:g.30773995C>A			Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	CCDS10691.1																																																																																				0.582	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		A	30773995	C	A	30773995	2	1	308	1	0	0	0	0	0	0	0	1	13499	581	21	4		4	RNF40	16	30773995	Silent	SNP	C	TCGA-BP-4158-01A-02D-1366-10	237373	30773995	59580758	45	18471											
TSR1	55720	hgsc.bcm.edu;ucsc.edu	37	17	2238608	2238608	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr17:2238608T>A	ENST00000301364.5	-	4	1581	c.502A>T	c.(502-504)Agc>Tgc	p.S168C	SGSM2_ENST00000426855.2_5'Flank|SGSM2_ENST00000574563.1_5'Flank|SGSM2_ENST00000268989.3_5'Flank|TSR1_ENST00000576112.2_Missense_Mutation_p.S168C	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	168	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TCACCGGTGCTGTCCCAGCCT	0.473																																																0													108	87	94					17																	2238608		2203	4300	6503	SO:0001583	missense	55720			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.502A>T	17.37:g.2238608T>A	ENSP00000301364:p.Ser168Cys		Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439720	0.83885	.	.	ENSG00000167721	ENST00000301364	T	0.50813	0.73	5.84	5.84	0.93424	.	0.152084	0.64402	D	0.000001	T	0.54191	0.1843	M	0.76002	2.32	0.49915	D	0.999833	P	0.49783	0.928	P	0.44359	0.447	T	0.61292	-0.7092	10	0.59425	D	0.04	-8.046	15.4114	0.74923	0.0:0.0:0.0:1.0	.	168	Q2NL82	TSR1_HUMAN	C	168	ENSP00000301364:S168C	ENSP00000301364:S168C	S	-	1	0	TSR1	2185358	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.782000	0.55401	2.228000	0.72767	0.533000	0.62120	AGC		0.473	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		A	2238608	T	A	2238608	3	1	308	1	0	0	0	0	1	0	0	0	16669	1580	55	5	1960	5	TSR1	17	2238608	Missense_Mutation	SNP	T	TCGA-BP-4158-01A-02D-1366-10		2238608	78956602	46	18472											
PITPNM3	83394	hgsc.bcm.edu	37	17	6441376	6441376	+	Missense_Mutation	SNP	G	G	A	rs28493751	byFrequency	TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr17:6441376G>A	ENST00000262483.8	-	2	136	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	PITPNM3_ENST00000421306.3_Missense_Mutation_p.P17S	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	17			P -> S (in dbSNP:rs28493751).		phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.P17S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGTGCCAGGGGGCACCGCCG	0.552													G|||	267	0.0533147	0.0265	0.0648	5008	,	,		18689	0.002		0.1103	False		,,,				2504	0.0757															1	Substitution - Missense(1)	central_nervous_system(1)						G	SER/PRO,SER/PRO	196,4210	119.6+/-157.3	4,188,2011	39	37	38		49,49	4.9	1	17	dbSNP_125	38	939,7661	200.3+/-244.1	62,815,3423	yes	missense,missense	PITPNM3	NM_001165966.1,NM_031220.3	74,74	66,1003,5434	AA,AG,GG		10.9186,4.4485,8.7267	possibly-damaging,possibly-damaging	17/939,17/975	6441376	1135,11871	2203	4300	6503	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.49C>T	17.37:g.6441376G>A	ENSP00000262483:p.Pro17Ser		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	127	0.05815018315018315	15	0.03048780487804878	28	0.07734806629834254	1	0.0017482517482517483	83	0.10949868073878628	G	18.04	3.534439	0.64972	0.044485	0.109186	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.41065	1.03;1.01	4.89	4.89	0.63831	.	0.182670	0.37219	N	0.002190	T	0.00496	0.0016	N	0.08118	0	0.36580	P	0.12648700000000002	P;P	0.42518	0.782;0.675	B;B	0.41174	0.349;0.19	T	0.08659	-1.0711	9	0.48119	T	0.1	0.2887	13.9315	0.63998	0.0:0.0:1.0:0.0	rs28493751	17;17	F8WEW5;Q9BZ71	.;PITM3_HUMAN	S	17	ENSP00000262483:P17S;ENSP00000407882:P17S	ENSP00000262483:P17S	P	-	1	0	PITPNM3	6382100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.677000	0.54619	2.439000	0.82584	0.655000	0.94253	CCC		0.552	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		A	6441376	G	A	6441376	3	1	308	1	0	0	0	0	1	0	0	0	11954	1232	43	2	2951	2	PITPNM3	17	6441376	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10	4202768	6441376	74753834	47	18473											
SRP68	6730	hgsc.bcm.edu;ucsc.edu	37	17	74053509	74053509	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr17:74053509G>C	ENST00000307877.2	-	8	1114	c.953C>G	c.(952-954)gCt>gGt	p.A318G	SRP68_ENST00000355113.5_Missense_Mutation_p.A217G|SRP68_ENST00000539137.1_Missense_Mutation_p.A280G	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	318					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTCGTTATCAGCCAGTCCTAA	0.473																																																0													204	170	181					17																	74053509		2203	4300	6503	SO:0001583	missense	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.953C>G	17.37:g.74053509G>C	ENSP00000312066:p.Ala318Gly		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668834	0.47677	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	L	0.54323	1.7	0.80722	D	1	P;P	0.51933	0.949;0.949	P;P	0.49085	0.6;0.6	T	0.61446	-0.7061	9	0.37606	T	0.19	-15.2221	19.6893	0.95993	0.0:0.0:1.0:0.0	.	280;318	G3V1U4;Q9UHB9	.;SRP68_HUMAN	G	58;280;318;318;287;217	.	ENSP00000307756:A287G	A	-	2	0	SRP68	71565104	1.000000	0.71417	0.718000	0.30602	0.053000	0.15095	7.388000	0.79795	2.729000	0.93468	0.655000	0.94253	GCT		0.473	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		C	74053509	G	C	74053509	3	2	308	1	0	0	0	0	1	0	0	0	15161	971	34	4	966	4	SRP68	17	74053509	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10	67612133	74053509	7141701	48	18474											
ENGASE	64772	hgsc.bcm.edu	37	17	77075667	77075667	+	Silent	SNP	T	T	C	rs3744183	byFrequency	TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr17:77075667T>C	ENST00000579016.1	+	4	513	c.513T>C	c.(511-513)atT>atC	p.I171I	ENGASE_ENST00000539857.2_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	171						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCGTCACCATTCCCCCAGTGG	0.587													C|||	2085	0.416334	0.6316	0.4063	5008	,	,		19718	0.38		0.173	False		,,,				2504	0.4202															0													103	128	120					17																	77075667		2115	4220	6335	SO:0001819	synonymous_variant	64772			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.513T>C	17.37:g.77075667T>C			Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	CCDS42394.1																																																																																				0.587	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		C	77075667	T	C	77075667	2	2	308	1	0	0	0	0	0	0	0	1	5120	1771	62	3		3	ENGASE	17	77075667	Silent	SNP	T	TCGA-BP-4158-01A-02D-1366-10	3022158	77075667	4119543	49	18475											
CEACAM5	1048	hgsc.bcm.edu;ucsc.edu	37	19	42219789	42219789	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr19:42219789C>A	ENST00000221992.6	+	4	1038	c.924C>A	c.(922-924)ctC>ctA	p.L308L	CEACAM5_ENST00000398599.4_Silent_p.L308L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.L308L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	308	Ig-like 3.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACACTGGCCTCAATAGGACCA	0.468																																																0													128	107	114					19																	42219789		2203	4300	6503	SO:0001819	synonymous_variant	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.924C>A	19.37:g.42219789C>A			H9KVA7	Silent	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	0.454	-0.892525	0.02491	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.12	1.94	0.25998	.	.	.	.	.	T	0.33990	0.0882	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20638	-1.0269	4	.	.	.	.	8.5499	0.33444	0.0:0.7612:0.2388:0.0	.	.	.	.	K	305	.	.	Q	+	1	0	CEACAM5	46911629	0.001000	0.12720	0.014000	0.15608	0.429000	0.31625	0.230000	0.17852	1.475000	0.48197	0.205000	0.17691	CAA		0.468	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		A	42219789	C	A	42219789	2	1	308	1	0	0	0	0	0	0	0	1	3197	813	29	4		4	CEACAM5	19	42219789	Silent	SNP	C	TCGA-BP-4158-01A-02D-1366-10		42219789	16909194	50	18476											
ZFP28	140612	hgsc.bcm.edu;ucsc.edu	37	19	57065085	57065085	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr19:57065085T>C	ENST00000301318.3	+	8	1002	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCAGGAATTATTTCCAAAGCA	0.393																																					Ovarian(124;554 1662 19430 21141 52494)											0													69	64	65					19																	57065085		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.931T>C	19.37:g.57065085T>C	ENSP00000301318:p.Phe311Leu		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	T	2.407	-0.336267	0.05278	.	.	ENSG00000196867	ENST00000301318	T	0.04194	3.68	4.82	-0.775	0.10988	.	0.699408	0.12536	N	0.460353	T	0.01421	0.0046	N	0.02275	-0.615	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47497	-0.9113	10	0.10636	T	0.68	.	1.3676	0.02204	0.1382:0.2509:0.1411:0.4698	.	311	Q8NHY6	ZFP28_HUMAN	L	311	ENSP00000301318:F311L	ENSP00000301318:F311L	F	+	1	0	ZFP28	61756897	0.000000	0.05858	0.407000	0.26434	0.815000	0.46073	-0.566000	0.05922	0.137000	0.18759	0.533000	0.62120	TTT		0.393	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		C	57065085	T	C	57065085	3	2	308	1	0	0	0	0	1	0	0	0	17647	1493	52	3	961	3	ZFP28	19	57065085	Missense_Mutation	SNP	T	TCGA-BP-4158-01A-02D-1366-10	14845296	57065085	2063898	51	18477											
STX16	8675	hgsc.bcm.edu;ucsc.edu	37	20	57251251	57251251	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr20:57251251G>T	ENST00000371141.4	+	9	1606	c.882G>T	c.(880-882)caG>caT	p.Q294H	STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000359617.4_Missense_Mutation_p.Q241H|STX16_ENST00000361830.3_Missense_Mutation_p.Q294H|STX16_ENST00000371132.4_Missense_Mutation_p.Q273H|STX16_ENST00000358029.4_Missense_Mutation_p.Q290H|STX16_ENST00000361770.5_Missense_Mutation_p.Q277H|STX16_ENST00000355957.5_Missense_Mutation_p.Q277H	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	294					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			AGGCAGAACAGTATCAAAAGA	0.418																																																0													195	195	195					20																	57251251		2203	4300	6503	SO:0001583	missense	8675			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.882G>T	20.37:g.57251251G>T	ENSP00000360183:p.Gln294His		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717999	0.68844	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	T;T;T;T;T;T;T	0.64438	0.88;0.88;-0.1;0.88;0.89;0.88;0.88	5.74	4.79	0.61399	Target SNARE coiled-coil domain (1);	.	.	.	.	T	0.68961	0.3058	L	0.45698	1.435	0.58432	D	0.999999	P;D;B;P	0.64830	0.489;0.994;0.442;0.881	P;D;B;P	0.63597	0.474;0.916;0.219;0.866	T	0.68857	-0.5298	9	0.45353	T	0.12	.	10.4685	0.44622	0.1643:0.0:0.8357:0.0	.	290;277;273;294	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	H	277;277;241;294;241;273;290;294;188;108	ENSP00000348229:Q277H;ENSP00000355408:Q277H;ENSP00000352634:Q241H;ENSP00000360183:Q294H;ENSP00000360173:Q273H;ENSP00000350723:Q290H;ENSP00000354445:Q294H	ENSP00000360180:Q241H	Q	+	3	2	STX16	56684657	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.845000	0.27668	1.562000	0.49601	0.563000	0.77884	CAG		0.418	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		T	57251251	G	T	57251251	3	4	308	1	0	0	0	0	1	0	0	0	15344	1020	36	4	916	4	STX16	20	57251251	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10		57251251	5774269	52	18478											
PISD	23761	hgsc.bcm.edu	37	22	32017820	32017820	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr22:32017820G>A	ENST00000439502.2	-	4	596	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Missense_Mutation_p.R91C|PISD_ENST00000266095.5_Missense_Mutation_p.R91C|PISD_ENST00000336566.4_Missense_Mutation_p.R125C|PISD_ENST00000382151.2_Missense_Mutation_p.R91C			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	125					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGATTGAGGCGACCCCAGGCC	0.622																																																0													71	62	65					22																	32017820		2203	4300	6503	SO:0001583	missense	23761				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.373C>T	22.37:g.32017820G>A	ENSP00000391739:p.Arg125Cys		B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37		.	.	.	.	.	.	.	.	.	.	G	24.4	4.531634	0.85706	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000439502;ENST00000336566;ENST00000451635;ENST00000422020	.	.	.	5.62	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	M	0.79614	2.46	0.80722	D	1	D;D;D;P	0.76494	0.999;0.999;0.999;0.913	D;P;P;B	0.63703	0.917;0.872;0.838;0.334	T	0.77021	-0.2742	9	0.39692	T	0.17	-43.4371	13.5982	0.62002	0.0745:0.0:0.9255:0.0	.	115;125;91;91	B1AJZ0;Q9UG56;B1AKM6;Q9UG56-2	.;PISD_HUMAN;.;.	C	91;91;91;125;125;91;91	.	ENSP00000266095:R91C	R	-	1	0	PISD	30347820	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.471000	0.97696	1.387000	0.46486	-0.251000	0.11542	CGC		0.622	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			A	32017820	G	A	32017820	3	1	308	1	0	0	0	0	1	0	0	0	11948	1058	37	1	876	1	PISD	22	32017820	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10		32017820	19286746	53	18479											
CARD10	29775	hgsc.bcm.edu	37	22	37912256	37912256	+	Silent	SNP	T	T	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr22:37912256T>C	ENST00000403299.1	-	4	639	c.423A>G	c.(421-423)cgA>cgG	p.R141R	CARD10_ENST00000251973.5_Silent_p.R141R|CARD10_ENST00000494166.1_5'Flank			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	141					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCCGCAGCCGTCGCACCTCTG	0.652																																																0													13	14	14					22																	37912256		2189	4291	6480	SO:0001819	synonymous_variant	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.423A>G	22.37:g.37912256T>C			Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	CCDS13948.1																																																																																				0.652	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		C	37912256	T	C	37912256	2	2	308	1	0	0	0	0	0	0	0	1	2646	1654	58	3		3	CARD10	22	37912256	Silent	SNP	T	TCGA-BP-4158-01A-02D-1366-10	5894436	37912256	13392310	54	18480											
SHROOM2	357	hgsc.bcm.edu	37	X	9900830	9900830	+	Silent	SNP	G	G	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chrX:9900830G>T	ENST00000380913.3	+	6	3597	c.3507G>T	c.(3505-3507)tcG>tcT	p.S1169S	SHROOM2_ENST00000418909.2_Silent_p.S4S|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1169					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGAGACCTCGCGCTCCCCCT	0.642																																																0													43	40	41					X																	9900830		2203	4299	6502	SO:0001819	synonymous_variant	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3507G>T	X.37:g.9900830G>T			B9EIQ7	Silent	SNP	ENST00000380913.3	37	CCDS14135.1																																																																																				0.642	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		T	9900830	G	T	9900830	2	4	308	1	0	0	0	0	0	0	0	1	14300	1074	38	4		4	SHROOM2	23	9900830	Silent	SNP	G	TCGA-BP-4158-01A-02D-1366-10		9900830	145369730	55	18481											
TLR8	51311	hgsc.bcm.edu;ucsc.edu	37	X	12937362	12937362	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chrX:12937362T>C	ENST00000218032.6	+	2	290	c.203T>C	c.(202-204)cTa>cCa	p.L68P	TLR8_ENST00000311912.5_Missense_Mutation_p.L86P	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	68					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTGACAGAACTAGACCTGTCT	0.403																																																0													107	98	101					X																	12937362		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.203T>C	X.37:g.12937362T>C	ENSP00000218032:p.Leu68Pro		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.838821	0.51057	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.80566	-1.39;-1.39	5.17	5.17	0.71159	.	0.905860	0.08960	N	0.868777	D	0.93963	0.8067	H	0.98027	4.13	0.58432	D	0.999993	D;D	0.69078	0.997;0.997	D;D	0.69824	0.966;0.966	D	0.92113	0.5697	10	0.87932	D	0	.	14.2243	0.65848	0.0:0.0:0.0:1.0	.	68;86	Q9NR97;D1CS70	TLR8_HUMAN;.	P	68;86	ENSP00000218032:L68P;ENSP00000312082:L86P	ENSP00000218032:L68P	L	+	2	0	TLR8	12847283	0.968000	0.33430	0.460000	0.27093	0.293000	0.27360	7.591000	0.82666	1.736000	0.51660	0.425000	0.28330	CTA		0.403	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		C	12937362	T	C	12937362	3	2	308	1	0	0	0	0	1	0	0	0	15962	1522	53	3	209	3	TLR8	23	12937362	Missense_Mutation	SNP	T	TCGA-BP-4158-01A-02D-1366-10	3036532	12937362	142333198	56	18482											
GAGE10	643832	hgsc.bcm.edu;ucsc.edu	37	X	49173756	49173756	+	Missense_Mutation	SNP	G	G	C	rs376577624		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chrX:49173756G>C	ENST00000407599.3	+	4	410	c.317G>C	c.(316-318)aGg>aCg	p.R106T		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	106										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GAGGTGAAAAGGCCTGAAGAA	0.473																																																0								C	THR/ARG	1,3834		0,0,1,1632,570	161	163	162		317	-1.4	0	X		162	0,6728		0,0,0,2428,1872	no	missense	GAGE10	NM_001098413.2	71	0,0,1,4060,2442	CC,CG,C,GG,G		0.0,0.0261,0.0095	benign	106/117	49173756	1,10562	2203	4300	6503	SO:0001583	missense	643832					Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.317G>C	X.37:g.49173756G>C	ENSP00000385415:p.Arg106Thr			Missense_Mutation	SNP	ENST00000407599.3	37	CCDS43938.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.006778	0.00043	2.61E-4	0.0	ENSG00000215274	ENST00000407599	T	0.08282	3.11	1.62	-1.35	0.09114	.	.	.	.	.	T	0.02571	0.0078	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44034	-0.9354	9	0.23302	T	0.38	.	3.0101	0.06042	0.0:0.3577:0.2491:0.3932	.	106	A6NGK3	GAG10_HUMAN	T	106	ENSP00000385415:R106T	ENSP00000385415:R106T	R	+	2	0	GAGE10	49060700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.435000	0.02423	-1.003000	0.03425	-3.704000	0.00023	AGG		0.473	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1	NM_001098413		C	49173756	G	C	49173756	3	2	308	1	0	0	0	0	1	0	0	0	6189	1000	35	4	327	4	GAGE10	23	49173756	Missense_Mutation	SNP	G	TCGA-BP-4158-01A-02D-1366-10	36236394	49173756	106096804	57	18483											
TRO	7216	hgsc.bcm.edu	37	X	54950147	54950147	+	Silent	SNP	G	G	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chrX:54950147G>C	ENST00000173898.7	+	3	1294	c.1182G>C	c.(1180-1182)ctG>ctC	p.L394L	TRO_ENST00000399736.1_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000319167.8_Silent_p.L394L|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000375022.4_Silent_p.L394L	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	394					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGACTATCTGGCTCAGTTGA	0.547																																																0													35	41	39					X																	54950147		1943	4131	6074	SO:0001819	synonymous_variant	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1182G>C	X.37:g.54950147G>C			B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	CCDS43959.1																																																																																				0.547	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		C	54950147	G	C	54950147	2	2	308	1	0	0	0	0	0	0	0	1	16579	1335	47	4		4	TRO	23	54950147	Silent	SNP	G	TCGA-BP-4158-01A-02D-1366-10	5776391	54950147	100320413	58	18484											
USP51	158880	hgsc.bcm.edu	37	X	55513337	55513337	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chrX:55513337C>T	ENST00000500968.3	-	2	2118	c.2036G>A	c.(2035-2037)aGc>aAc	p.S679N	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	679	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCATCACAGCTGAACCACTG	0.433																																																0													104	89	94					X																	55513337		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.2036G>A	X.37:g.55513337C>T	ENSP00000423333:p.Ser679Asn		Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.455387	0.43634	.	.	ENSG00000247746	ENST00000500968	T	0.30182	1.54	2.88	2.88	0.33553	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.103999	0.64402	U	0.000006	T	0.20292	0.0488	N	0.11341	0.13	0.28640	N	0.907204	P	0.47106	0.89	P	0.50270	0.636	T	0.02505	-1.1149	10	0.46703	T	0.11	.	5.1885	0.15197	0.0:0.8354:0.0:0.1646	.	679	Q70EK9	UBP51_HUMAN	N	679	ENSP00000423333:S679N	ENSP00000423333:S679N	S	-	2	0	USP51	55530062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.162000	0.50755	1.720000	0.51447	0.502000	0.49764	AGC		0.433	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		T	55513337	C	T	55513337	3	4	308	1	0	0	0	0	1	0	0	0	17088	797	28	2	103	2	USP51	23	55513337	Missense_Mutation	SNP	C	TCGA-BP-4158-01A-02D-1366-10	563190	55513337	99757223	59	18485											
NPR1	4881	hgsc.bcm.edu;ucsc.edu	37	1	153659771	153659771	+	Silent	SNP	C	C	A	rs139564474		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr1:153659771C>A	ENST00000368680.3	+	13	2503	c.2031C>A	c.(2029-2031)acC>acA	p.T677T		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	677	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TCAAGATCACCGACTATGGGC	0.547																																					Pancreas(141;1349 1870 15144 15830 40702)											0													130	106	114					1																	153659771		2203	4300	6503	SO:0001819	synonymous_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2031C>A	1.37:g.153659771C>A			B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	CCDS1051.1																																																																																				0.547	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		A	153659771	C	A	153659771	2	1	309	1	0	0	0	0	0	0	0	1	10596	639	23	4		4	NPR1	1	153659771	Silent	SNP	C	TCGA-BP-4159-01A-02D-1366-10		153659771	95590850	1	18486											
TDRD5	163589	hgsc.bcm.edu	37	1	179561874	179561874	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr1:179561874C>A	ENST00000367614.1	+	2	483	c.124C>A	c.(124-126)Cat>Aat	p.H42N	TDRD5_ENST00000294848.8_Missense_Mutation_p.H42N|TDRD5_ENST00000444136.1_Missense_Mutation_p.H42N|RP11-545A16.4_ENST00000567150.1_RNA	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	42	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGTTGGCAACCATCTACCACT	0.498																																																0													211	190	197					1																	179561874		2203	4300	6503	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.124C>A	1.37:g.179561874C>A	ENSP00000356586:p.His42Asn		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192184	0.38707	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.40476	1.03;1.03;1.03	5.91	4.99	0.66335	.	0.142257	0.49305	D	0.000145	T	0.31389	0.0795	L	0.33485	1.01	0.09310	N	1	B;B	0.31548	0.328;0.144	B;B	0.29267	0.1;0.083	T	0.12319	-1.0552	10	0.15066	T	0.55	-2.7516	15.2239	0.73336	0.1418:0.8582:0.0:0.0	.	42;42	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	N	42	ENSP00000356586:H42N;ENSP00000294848:H42N;ENSP00000406052:H42N	ENSP00000294848:H42N	H	+	1	0	TDRD5	177828497	0.212000	0.23540	0.589000	0.28718	0.986000	0.74619	3.960000	0.56752	1.486000	0.48398	0.655000	0.94253	CAT		0.498	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		A	179561874	C	A	179561874	3	1	309	1	0	0	0	0	1	0	0	0	15738	594	21	4	126	4	TDRD5	1	179561874	Missense_Mutation	SNP	C	TCGA-BP-4159-01A-02D-1366-10	25902103	179561874	69688747	2	18487											
RNASEL	6041	hgsc.bcm.edu;ucsc.edu	37	1	182551218	182551218	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr1:182551218A>G	ENST00000367559.3	-	4	1995	c.1742T>C	c.(1741-1743)cTg>cCg	p.L581P	RNASEL_ENST00000539397.1_Missense_Mutation_p.L581P|RNASEL_ENST00000444138.1_Missense_Mutation_p.L581P	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGGATGACCCAGCAGGTCACT	0.502																																																0													153	146	148					1																	182551218		2203	4300	6503	SO:0001583	missense	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1742T>C	1.37:g.182551218A>G	ENSP00000356530:p.Leu581Pro		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.474898	0.63737	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.25579	1.79;1.79;1.79	5.1	3.95	0.45737	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.298438	0.23894	N	0.043505	T	0.50854	0.1640	M	0.90870	3.155	0.21020	N	0.999804	D;D	0.56746	0.977;0.977	P;P	0.58013	0.831;0.831	T	0.51442	-0.8705	10	0.66056	D	0.02	-5.6465	9.4899	0.38953	0.8426:0.0:0.0:0.1574	.	581;581	Q6AI46;Q05823	.;RN5A_HUMAN	P	581	ENSP00000356530:L581P;ENSP00000411147:L581P;ENSP00000440844:L581P	ENSP00000356530:L581P	L	-	2	0	RNASEL	180817841	0.584000	0.26766	0.052000	0.19188	0.348000	0.29142	1.481000	0.35476	0.865000	0.35603	0.528000	0.53228	CTG		0.502	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		G	182551218	A	G	182551218	3	3	309	1	0	0	0	0	1	0	0	0	13422	188	7	3	499	3	RNASEL	1	182551218	Missense_Mutation	SNP	A	TCGA-BP-4159-01A-02D-1366-10	2989344	182551218	66699403	3	18488											
IKBKE	9641	hgsc.bcm.edu	37	1	206661295	206661295	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr1:206661295A>T	ENST00000367120.3	+	16	2034	c.1661A>T	c.(1660-1662)tAc>tTc	p.Y554F	IKBKE_ENST00000537984.1_Missense_Mutation_p.Y469F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	554	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					AACTTCATCTACAAACAGTTC	0.507																																																0													55	51	53					1																	206661295		2203	4300	6503	SO:0001583	missense	9641			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1661A>T	1.37:g.206661295A>T	ENSP00000356087:p.Tyr554Phe		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.801029	0.50315	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.17370	2.28;2.28	5.83	4.69	0.59074	.	0.126953	0.53938	D	0.000050	T	0.15305	0.0369	L	0.42245	1.32	0.24466	N	0.994419	B;B	0.17852	0.004;0.024	B;B	0.15484	0.008;0.013	T	0.14783	-1.0460	10	0.42905	T	0.14	-4.7271	10.0463	0.42188	0.8497:0.0:0.0:0.1502	.	469;554	Q3B754;Q14164	.;IKKE_HUMAN	F	554;469	ENSP00000356087:Y554F;ENSP00000444529:Y469F	ENSP00000356087:Y554F	Y	+	2	0	IKBKE	204727918	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	5.880000	0.69698	1.010000	0.39314	-0.468000	0.05107	TAC		0.507	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			T	206661295	A	T	206661295	3	4	309	1	0	0	0	0	1	0	0	0	7614	391	14	5	1715	5	IKBKE	1	206661295	Missense_Mutation	SNP	A	TCGA-BP-4159-01A-02D-1366-10	24110077	206661295	42589326	4	18489											
PIGR	5284	hgsc.bcm.edu	37	1	207110590	207110590	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr1:207110590G>A	ENST00000356495.4	-	4	1078	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	299	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGGGGTTGAGCAGGATCCTG	0.592																																																0													82	77	78					1																	207110590		2203	4300	6503	SO:0001583	missense	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.895C>T	1.37:g.207110590G>A	ENSP00000348888:p.Leu299Phe		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722784	0.30503	.	.	ENSG00000162896	ENST00000356495	T	0.67345	-0.26	5.49	-0.581	0.11713	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.696678	0.13551	N	0.379481	T	0.54367	0.1854	L	0.58669	1.825	0.09310	N	1	B	0.19445	0.036	B	0.21917	0.037	T	0.40813	-0.9543	10	0.27082	T	0.32	-20.4398	4.0249	0.09683	0.3111:0.0:0.4247:0.2642	.	299	P01833	PIGR_HUMAN	F	299	ENSP00000348888:L299F	ENSP00000348888:L299F	L	-	1	0	PIGR	205177213	0.001000	0.12720	0.001000	0.08648	0.246000	0.25737	-0.037000	0.12164	-0.002000	0.14469	0.650000	0.86243	CTC		0.592	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		A	207110590	G	A	207110590	3	1	309	1	0	0	0	0	1	0	0	0	11899	971	34	2	1431	2	PIGR	1	207110590	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	449295	207110590	42140031	5	18490											
CEP170	9859	hgsc.bcm.edu	37	1	243336127	243336127	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr1:243336127G>C	ENST00000366542.1	-	11	1639	c.1588C>G	c.(1588-1590)Cag>Gag	p.Q530E	CEP170_ENST00000366544.1_Missense_Mutation_p.Q432E|CEP170_ENST00000366543.1_Missense_Mutation_p.Q432E	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	530						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTATAATCCTGATTGTCATCT	0.318																																																0													73	62	65					1																	243336127		1798	4069	5867	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1588C>G	1.37:g.243336127G>C	ENSP00000355500:p.Gln530Glu		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	22.1|22.1|22.1	4.248334|4.248334|4.248334	0.80024|0.80024|0.80024	.|.|.	.|.|.	ENSG00000143702|ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543|ENST00000522895	.|T;T;T|.	.|0.50277|.	.|0.95;0.77;0.75|.	5.35|5.35|5.35	5.35|5.35|5.35	0.76521|0.76521|0.76521	.|.|.	.|0.221171|.	.|0.42682|.	.|D|.	.|0.000667|.	T|T|.	0.71467|0.71467|.	0.3343|0.3343|.	L|L|L	0.56769|0.56769|0.56769	1.78|1.78|1.78	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;D;P|.	.|0.58970|.	.|0.394;0.984;0.775|.	.|B;D;B|.	.|0.63793|.	.|0.405;0.918;0.304|.	T|T|.	0.69098|0.69098|.	-0.5235|-0.5235|.	5|10|.	.|0.10902|.	.|T|.	.|0.67|.	-8.4782|-8.4782|-8.4782	17.2392|17.2392|17.2392	0.87008|0.87008|0.87008	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|432;432;530|.	.|Q5SW79-3;Q5SW79-2;Q5SW79|.	.|.;.;CE170_HUMAN|.	M|E|X	493|530;432;432|58	.|ENSP00000355500:Q530E;ENSP00000355502:Q432E;ENSP00000355501:Q432E|.	.|ENSP00000355500:Q530E|.	I|Q|S	-|-|-	3|1|2	3|0|0	CEP170|CEP170|CEP170	241402750|241402750|241402750	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	4.374000|4.374000|4.374000	0.59543|0.59543|0.59543	2.506000|2.506000|2.506000	0.84524|0.84524|0.84524	0.455000|0.455000|0.455000	0.32223|0.32223|0.32223	ATC|CAG|TCA		0.318	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		C	243336127	G	C	243336127	3	2	309	1	0	0	0	0	1	0	0	0	3252	1299	45	4	3236	4	CEP170	1	243336127	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	36225537	243336127	5914494	6	18491											
EMX1	2016	hgsc.bcm.edu	37	2	73161063	73161063	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr2:73161063G>A	ENST00000258106.6	+	3	1231	c.853G>A	c.(853-855)Gat>Aat	p.D285N	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	252					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.D285N(1)		cervix(1)|large_intestine(2)|lung(3)	6						GGAGGACATCGATGTCACCTC	0.622																																																1	Substitution - Missense(1)	large_intestine(1)											61	70	67					2																	73161063		2132	4240	6372	SO:0001583	missense	2016			X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"Homeoboxes / ANTP class : NKL subclass"	3340	protein-coding gene	gene with protein product		600034	"empty spiracles homolog 1 (Drosophila)"			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.853G>A	2.37:g.73161063G>A	ENSP00000258106:p.Asp285Asn		Q0D2P0|Q53T30|Q86XB0	Missense_Mutation	SNP	ENST00000258106.6	37	CCDS1921.2	.	.	.	.	.	.	.	.	.	.	G	33	5.199590	0.94997	.	.	ENSG00000135638	ENST00000258106	D	0.94417	-3.42	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96958	0.9699	10	0.59425	D	0.04	-15.1927	16.7907	0.85589	0.0:0.0:1.0:0.0	.	252	Q04741	EMX1_HUMAN	N	285	ENSP00000258106:D285N	ENSP00000258106:D285N	D	+	1	0	EMX1	73014571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.639000	0.89480	0.491000	0.48974	GAT		0.622	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			A	73161063	G	A	73161063	3	1	309	1	0	0	0	0	1	0	0	0	5109	1058	37	1	863	1	EMX1	2	73161063	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10		73161063	170038310	7	18492											
PSD4	23550	hgsc.bcm.edu;ucsc.edu	37	2	113942578	113942578	+	Silent	SNP	C	C	T	rs373584220	byFrequency	TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr2:113942578C>T	ENST00000245796.6	+	3	1296	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	PSD4_ENST00000441564.3_Silent_p.D367D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	367					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						cgtgtgtggacgaagcattga	0.547													C|||	4	0.000798722	0.0	0.0	5008	,	,		21949	0.0		0.0	False		,,,				2504	0.0041															0													276	249	258					2																	113942578		2203	4300	6503	SO:0001819	synonymous_variant	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1101C>T	2.37:g.113942578C>T			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	CCDS33276.1																																																																																				0.547	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		T	113942578	C	T	113942578	2	4	309	1	0	0	0	0	0	0	0	1	12654	535	19	1		1	PSD4	2	113942578	Silent	SNP	C	TCGA-BP-4159-01A-02D-1366-10	40781515	113942578	129256795	8	18493											
PTPN4	5775	hgsc.bcm.edu;ucsc.edu	37	2	120709630	120709630	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr2:120709630G>T	ENST00000263708.2	+	19	2509	c.1738G>T	c.(1738-1740)Gat>Tat	p.D580Y	PTPN4_ENST00000544261.1_Missense_Mutation_p.D213Y	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	580	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACACACTCATGATCAGGTTGT	0.423																																																0													163	150	154					2																	120709630		2203	4300	6503	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1738G>T	2.37:g.120709630G>T	ENSP00000263708:p.Asp580Tyr		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133568	0.94517	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.33654	1.4;1.4	6.07	6.07	0.98685	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64114	-0.6483	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	580	P29074	PTN4_HUMAN	Y	580;213	ENSP00000263708:D580Y;ENSP00000445841:D213Y	ENSP00000263708:D580Y	D	+	1	0	PTPN4	120426100	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.705000	0.98719	2.885000	0.99019	0.655000	0.94253	GAT		0.423	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			T	120709630	G	T	120709630	3	4	309	1	0	0	0	0	1	0	0	0	12796	1290	45	4	1808	4	PTPN4	2	120709630	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	6767052	120709630	122489743	9	18494											
POTEF	728378	hgsc.bcm.edu	37	2	130831983	130831983	+	Missense_Mutation	SNP	G	G	A	rs202034265		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr2:130831983G>A	ENST00000409914.2	-	17	3461	c.3062C>T	c.(3061-3063)gCg>gTg	p.A1021V	POTEF_ENST00000357462.5_Missense_Mutation_p.A1021V	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	1021	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CATGCTAGGCGCCAGGGCAGC	0.592																																																0													1	1	1					2																	130831983		153	429	582	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.3062C>T	2.37:g.130831983G>A	ENSP00000386786:p.Ala1021Val		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.842482	0.51057	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.94723	-3.5;-3.5	.	.	.	.	.	.	.	.	D	0.93331	0.7874	M	0.79475	2.455	0.80722	D	1	P	0.48834	0.916	P	0.46172	0.506	D	0.90048	0.4147	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	1021	A5A3E0	POTEF_HUMAN	V	1021	ENSP00000350052:A1021V;ENSP00000386786:A1021V	ENSP00000350052:A1021V	A	-	2	0	POTEF	130548453	1.000000	0.71417	0.075000	0.20258	0.076000	0.17211	6.566000	0.73978	0.119000	0.18210	0.121000	0.15741	GCG		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		A	130831983	G	A	130831983	3	1	309	1	0	0	0	0	1	0	0	0	12267	1087	38	1	169	1	POTEF	2	130831983	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	10122353	130831983	112367390	10	18495											
OBFC2A	64859	hgsc.bcm.edu;ucsc.edu	37	2	192550347	192550347	+	Silent	SNP	T	T	G			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr2:192550347T>G	ENST00000425611.2	+	6	551	c.468T>G	c.(466-468)ccT>ccG	p.P156P	NABP1_ENST00000410026.2_Silent_p.P76P|NABP1_ENST00000409510.1_Silent_p.P76P	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	156					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)										ACACTGGCCCTGAATCAAGGG	0.393																																																0													69	63	65					2																	192550347		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"single-stranded DNA-binding protein 2", "sensor of single-strand DNA complex subunit B2"	612103	"oligonucleotide/oligosaccharide-binding fold containing 2A"	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.468T>G	2.37:g.192550347T>G			Q658Y8|Q9H5X6	Silent	SNP	ENST00000425611.2	37	CCDS33352.1	.	.	.	.	.	.	.	.	.	.	T	2.651	-0.281866	0.05642	.	.	ENSG00000173559	ENST00000435931	.	.	.	5.09	1.12	0.20585	.	.	.	.	.	T	0.45558	0.1348	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23297	-1.0192	4	.	.	.	.	3.6836	0.08320	0.3801:0.1737:0.0:0.4462	.	.	.	.	R	120	.	.	L	+	2	0	OBFC2A	192258592	1.000000	0.71417	0.953000	0.39169	0.347000	0.29111	0.586000	0.23894	0.097000	0.17492	0.528000	0.53228	CTG		0.393	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837		G	192550347	T	G	192550347	2	3	309	1	0	0	0	0	0	0	0	1	10810	1567	55	5		5	OBFC2A	2	192550347	Silent	SNP	T	TCGA-BP-4159-01A-02D-1366-10	61718364	192550347	50649026	11	18496											
ALS2	57679	hgsc.bcm.edu;ucsc.edu	37	2	202589118	202589118	+	Silent	SNP	G	G	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr2:202589118G>A	ENST00000264276.6	-	21	3784	c.3412C>T	c.(3412-3414)Cta>Tta	p.L1138L	ALS2_ENST00000457679.2_Silent_p.L450L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1138					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCACTTCGTAGAAGACCATGA	0.413																																																0													189	167	174					2																	202589118		1912	4131	6043	SO:0001819	synonymous_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3412C>T	2.37:g.202589118G>A			Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	CCDS42800.1																																																																																				0.413	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		A	202589118	G	A	202589118	2	1	309	1	0	0	0	0	0	0	0	1	550	933	33	2		2	ALS2	2	202589118	Silent	SNP	G	TCGA-BP-4159-01A-02D-1366-10	10038771	202589118	40610255	12	18497											
AGFG1	3267	hgsc.bcm.edu	37	2	228398468	228398468	+	Missense_Mutation	SNP	G	G	T	rs267599235		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr2:228398468G>T	ENST00000310078.8	+	7	1278	c.1018G>T	c.(1018-1020)Ggg>Tgg	p.G340W	AGFG1_ENST00000409979.2_Missense_Mutation_p.G364W|AGFG1_ENST00000373671.3_Missense_Mutation_p.G300W|AGFG1_ENST00000409171.1_Missense_Mutation_p.G340W|AGFG1_ENST00000409315.1_Missense_Mutation_p.G340W	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	340					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G340R(2)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CTTCAGTGCCGGGCAAGGTAT	0.348																																																2	Substitution - Missense(2)	skin(2)											54	51	52					2																	228398468		2203	4300	6503	SO:0001583	missense	3267				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1018G>T	2.37:g.228398468G>T	ENSP00000312059:p.Gly340Trp		B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801754	0.70682	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.26957	1.79;1.73;1.7;1.81;1.73	5.14	4.25	0.50352	.	0.166320	0.53938	D	0.000049	T	0.33962	0.0881	N	0.19112	0.55	0.53005	D	0.999964	D;D;D;D	0.89917	1.0;0.996;0.999;0.998	D;D;D;P	0.80764	0.994;0.942;0.948;0.877	T	0.08722	-1.0708	10	0.41790	T	0.15	.	13.9942	0.64386	0.0746:0.0:0.9254:0.0	.	300;340;364;340	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	W	364;349;340;340;300;340	ENSP00000387282:G364W;ENSP00000312059:G340W;ENSP00000387154:G340W;ENSP00000362775:G300W;ENSP00000387218:G340W	ENSP00000312059:G340W	G	+	1	0	AGFG1	228106712	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	4.854000	0.62918	2.395000	0.81488	0.655000	0.94253	GGG		0.348	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		T	228398468	G	T	228398468	3	4	309	1	0	0	0	0	1	0	0	0	380	1116	39	4	1120	4	AGFG1	2	228398468	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	25809350	228398468	14800905	13	18498											
SPP2	6694	hgsc.bcm.edu;ucsc.edu	37	2	234959667	234959667	+	Silent	SNP	C	C	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr2:234959667C>A	ENST00000168148.3	+	2	226	c.138C>A	c.(136-138)gcC>gcA	p.A46A	SPP2_ENST00000373368.1_Silent_p.A46A|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	46					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CCCTCAGTGCCTCTGTGGTAA	0.483																																																0													128	108	115					2																	234959667		2203	4300	6503	SO:0001819	synonymous_variant	6694				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"secreted phosphoprotein 2, 24kD"			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.138C>A	2.37:g.234959667C>A			A4QMV3|Q3B892|Q546M5	Silent	SNP	ENST00000168148.3	37	CCDS2511.1																																																																																				0.483	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		A	234959667	C	A	234959667	2	1	309	1	0	0	0	0	0	0	0	1	15092	668	24	4		4	SPP2	2	234959667	Silent	SNP	C	TCGA-BP-4159-01A-02D-1366-10	6561199	234959667	8239706	14	18499											
D2HGDH	728294	hgsc.bcm.edu	37	2	242680459	242680459	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr2:242680459G>A	ENST00000321264.4	+	3	513	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000537090.1_Missense_Mutation_p.V102M|D2HGDH_ENST00000342518.6_Missense_Mutation_p.V102M	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	102	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGTAGCAAGGTGCTGCTGAG	0.597																																																0													58	51	53					2																	242680459		2203	4296	6499	SO:0001583	missense	728294			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.304G>A	2.37:g.242680459G>A	ENSP00000315351:p.Val102Met		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089161	0.36855	.	.	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000342518	D;D;D	0.95918	-3.85;-3.85;-3.85	4.13	3.23	0.37069	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.260915	0.30492	N	0.009507	D	0.95297	0.8474	M	0.62209	1.925	0.39282	D	0.964584	P	0.37731	0.607	P	0.46208	0.507	D	0.94916	0.8069	10	0.62326	D	0.03	.	13.6989	0.62597	0.0:0.4546:0.5454:0.0	.	102	Q8N465	D2HDH_HUMAN	M	102	ENSP00000442796:V102M;ENSP00000315351:V102M;ENSP00000339536:V102M	ENSP00000315351:V102M	V	+	1	0	D2HGDH	242329132	1.000000	0.71417	0.942000	0.38095	0.285000	0.27093	1.511000	0.35801	0.716000	0.32124	0.561000	0.74099	GTG		0.597	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		A	242680459	G	A	242680459	3	1	309	1	0	0	0	0	1	0	0	0	4215	1261	44	2	310	2	D2HGDH	2	242680459	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	7720792	242680459	518914	15	18500											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188315	10188315	+	Missense_Mutation	SNP	T	T	C	rs193922611		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr3:10188315T>C	ENST00000256474.2	+	2	1298	c.458T>C	c.(457-459)cTg>cCg	p.L153P	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	153	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L153P(5)|p.?(2)|p.L153fs*4(1)|p.?fs(1)|p.P154fs*2(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AATATCACACTGCCAGGTACT	0.403		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Substitution - Missense(5)|Deletion - Frameshift(2)|Insertion - Frameshift(2)|Unknown(2)	kidney(11)											182	172	175					3																	10188315		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.458T>C	3.37:g.10188315T>C	ENSP00000256474:p.Leu153Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930995	0.73327	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99848	-7.14	4.79	4.79	0.61399	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000001	D	0.99715	0.9890	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97136	0.9821	10	0.72032	D	0.01	0.5194	12.5822	0.56397	0.0:0.0:0.0:1.0	.	153	P40337	VHL_HUMAN	P	153;71	ENSP00000256474:L153P	ENSP00000256474:L153P	L	+	2	0	VHL	10163315	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.968000	0.70413	1.928000	0.55862	0.460000	0.39030	CTG		0.403	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10188315	T	C	10188315	3	2	309	1	0	0	0	0	1	0	0	0	17167	1580	55	3	464	3	VHL	3	10188315	Missense_Mutation	SNP	T	TCGA-BP-4159-01A-02D-1366-10		10188315	187834115	16	18501											
PBRM1	55193	ucsc.edu	37	3	52682363	52682363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	G	-	G	G	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr3:52682363delG	ENST00000296302.7	-	7	811	c.810delC	c.(808-810)ttcfs	p.F270fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.F270fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.F270fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.F270fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.F270fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.F270fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.F270fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.F270fs			Q86U86	PB1_HUMAN	polybromo 1	270	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AACTAACCTTGAATACTTGAG	0.308			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													142	139	140					3																	52682363		2202	4300	6502	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.810delC	3.37:g.52682363delG	ENSP00000296302:p.Phe270fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.308	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52682363	G	-	52682363	7	5	309	1	0	1	0	1	0	0	0	0	11493	1281	45	0	4186	0	PBRM1	3	52682363	Frame_Shift_Del	DEL	G	TCGA-BP-4159-01A-02D-1366-10	42494048	52682363	145340067	17	18502											
C3orf63	23272	hgsc.bcm.edu	37	3	56716710	56716710	+	Missense_Mutation	SNP	T	T	C	rs113199481		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr3:56716710T>C	ENST00000493960.2	-	1	335	c.325A>G	c.(325-327)Aag>Gag	p.K109E	FAM208A_ENST00000355628.5_Missense_Mutation_p.K109E	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	109							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CCACCTTTCTTTTCTCTGCTC	0.572																																																0													78	75	76					3																	56716710		692	1591	2283	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.325A>G	3.37:g.56716710T>C	ENSP00000417509:p.Lys109Glu		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730485	0.48939	.	.	ENSG00000163946	ENST00000493960;ENST00000355628	T;T	0.10860	2.83;2.85	4.5	4.5	0.54988	.	.	.	.	.	T	0.24236	0.0587	L	0.43923	1.385	0.37560	D	0.919027	P;D	0.71674	0.51;0.998	B;D	0.70935	0.107;0.971	T	0.04650	-1.0936	9	0.59425	D	0.04	-3.9509	13.9868	0.64341	0.0:0.0:0.0:1.0	.	109;109	Q9UK61-3;Q9UK61-4	.;.	E	109	ENSP00000417509:K109E;ENSP00000347845:K109E	ENSP00000347845:K109E	K	-	1	0	C3orf63	56691750	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.162000	0.58177	2.034000	0.60081	0.454000	0.30748	AAG		0.572	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		C	56716710	T	C	56716710	3	2	309	1	0	0	0	0	1	0	0	0	2241	1850	64	3	4843	3	C3orf63	3	56716710	Missense_Mutation	SNP	T	TCGA-BP-4159-01A-02D-1366-10	4034347	56716710	141305720	18	18503											
DRD3	1814	hgsc.bcm.edu	37	3	113866367	113866367	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr3:113866367C>T	ENST00000460779.1	-	5	710	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	DRD3_ENST00000295881.7_Missense_Mutation_p.G141S|DRD3_ENST00000467632.1_Missense_Mutation_p.G141S|DRD3_ENST00000383673.2_Missense_Mutation_p.G141S	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	141					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGTCCCGTGCCATGCTGGTAG	0.557																																																0													107	92	97					3																	113866367		2203	4300	6503	SO:0001583	missense	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.421G>A	3.37:g.113866367C>T	ENSP00000419402:p.Gly141Ser		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864626	0.51482	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.46	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.214383	0.48767	N	0.000176	T	0.36608	0.0973	N	0.01197	-0.965	0.36146	D	0.847145	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.13407	0.003;0.009;0.009;0.006	T	0.30446	-0.9978	10	0.34782	T	0.22	.	4.7662	0.13134	0.0:0.6216:0.0:0.3784	.	141;141;141;141	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	S	141	ENSP00000419402:G141S;ENSP00000420662:G141S;ENSP00000373169:G141S;ENSP00000295881:G141S	ENSP00000281274:G141S	G	-	1	0	DRD3	115349057	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.676000	0.46883	1.540000	0.49301	0.655000	0.94253	GGC		0.557	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		T	113866367	C	T	113866367	3	4	309	1	0	0	0	0	1	0	0	0	4760	594	21	2	797	2	DRD3	3	113866367	Missense_Mutation	SNP	C	TCGA-BP-4159-01A-02D-1366-10	57149657	113866367	84156063	19	18504											
RNF212	285498	hgsc.bcm.edu;ucsc.edu	37	4	1075245	1075245	+	Silent	SNP	G	G	A	rs146814980	byFrequency	TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr4:1075245G>A	ENST00000433731.2	-	7	487	c.426C>T	c.(424-426)caC>caT	p.H142H	RNF212_ENST00000382968.5_Silent_p.H142H			Q495C1	RN212_HUMAN	ring finger protein 212	142					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GCAGGCATCCGTGTGGTTTTG	0.517													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17833	0.0		0.0	False		,,,				2504	0.001															0								G	,	7,4399	12.9+/-30.5	0,7,2196	204	189	194		426,426	-0.4	0	4	dbSNP_134	194	0,8600		0,0,4300	yes	coding-synonymous,coding-synonymous	RNF212	NM_001131034.3,NM_194439.4	,	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	,	142/298,142/233	1075245	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	285498			AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"RING-type (C3HC4) zinc fingers"	27729	protein-coding gene	gene with protein product		612041	"hypothetical protein LOC285498"	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.426C>T	4.37:g.1075245G>A			C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Silent	SNP	ENST00000433731.2	37	CCDS46996.1																																																																																				0.517	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		A	1075245	G	A	1075245	2	1	309	1	0	0	0	0	0	0	0	1	13482	1136	40	1		1	RNF212	4	1075245	Silent	SNP	G	TCGA-BP-4159-01A-02D-1366-10		1075245	190079031	20	18505											
PPP3CA	5530	hgsc.bcm.edu;ucsc.edu	37	4	102015047	102015047	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr4:102015047G>T	ENST00000394854.3	-	6	1351	c.668C>A	c.(667-669)gCa>gAa	p.A223E	PPP3CA_ENST00000507176.1_Missense_Mutation_p.A125E|PPP3CA_ENST00000394853.4_Missense_Mutation_p.A223E|PPP3CA_ENST00000523694.2_Missense_Mutation_p.A156E|PPP3CA_ENST00000510292.1_5'UTR|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000323055.6_Missense_Mutation_p.A223E	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	223	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		AGGTCCATATGCAGGTGGTTC	0.403																																																0													92	91	91					4																	102015047		2203	4300	6503	SO:0001583	missense	5530				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.668C>A	4.37:g.102015047G>T	ENSP00000378323:p.Ala223Glu		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091752	0.76756	.	.	ENSG00000138814	ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	5.26	5.26	0.73747	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.05090	0.0136	N	0.05124	-0.11	0.80722	D	1	B;B;B;P;B	0.36974	0.115;0.012;0.039;0.576;0.207	B;B;B;B;B	0.37943	0.261;0.07;0.05;0.188;0.121	T	0.53308	-0.8457	10	0.49607	T	0.09	-11.8689	18.4949	0.90861	0.0:0.0:1.0:0.0	.	223;223;223;125;156	Q08209;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.	E	223;223;223;125;156	ENSP00000378323:A223E;ENSP00000320580:A223E;ENSP00000378322:A223E;ENSP00000422990:A125E;ENSP00000429350:A156E	ENSP00000320580:A223E	A	-	2	0	PPP3CA	102234070	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.497000	0.97970	2.453000	0.82957	0.453000	0.30009	GCA		0.403	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		T	102015047	G	T	102015047	3	4	309	1	0	0	0	0	1	0	0	0	12402	1319	46	4	933	4	PPP3CA	4	102015047	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	100939802	102015047	89139229	21	18506											
NDST4	64579	hgsc.bcm.edu;ucsc.edu	37	4	115997895	115997895	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr4:115997895C>T	ENST00000264363.2	-	2	976	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	100	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CGGCTGGACTCCAAAATAGCT	0.413																																																0													109	121	117					4																	115997895		2203	4300	6503	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.298G>A	4.37:g.115997895C>T	ENSP00000264363:p.Glu100Lys		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783231	0.90282	.	.	ENSG00000138653	ENST00000264363	T	0.39787	1.06	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.64216	0.2578	M	0.83692	2.655	0.80722	D	1	B	0.32800	0.385	P	0.48952	0.596	T	0.68281	-0.5450	10	0.59425	D	0.04	.	18.0522	0.89353	0.0:1.0:0.0:0.0	.	100	Q9H3R1	NDST4_HUMAN	K	100	ENSP00000264363:E100K	ENSP00000264363:E100K	E	-	1	0	NDST4	116217344	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.767000	0.85331	2.239000	0.73571	0.467000	0.42956	GAG		0.413	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		T	115997895	C	T	115997895	3	4	309	1	0	0	0	0	1	0	0	0	10260	864	30	2	2372	2	NDST4	4	115997895	Missense_Mutation	SNP	C	TCGA-BP-4159-01A-02D-1366-10	13982848	115997895	75156381	22	18507											
DMXL1	1657	hgsc.bcm.edu;ucsc.edu	37	5	118506224	118506224	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr5:118506224A>T	ENST00000311085.8	+	24	5818	c.5738A>T	c.(5737-5739)gAt>gTt	p.D1913V	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1913V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1913										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTAAAGTTGGATGCAAGGGAA	0.393																																																0													111	108	109					5																	118506224		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.5738A>T	5.37:g.118506224A>T	ENSP00000309690:p.Asp1913Val			Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	8.689	0.907049	0.17833	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10382	2.88;2.89	5.68	4.49	0.54785	.	0.519448	0.22565	N	0.058413	T	0.07413	0.0187	N	0.14661	0.345	0.53688	D	0.999973	B;B	0.20261	0.043;0.015	B;B	0.24541	0.054;0.014	T	0.30327	-0.9982	10	0.27785	T	0.31	-4.152	12.0343	0.53417	0.8706:0.0:0.0:0.1294	.	1913;1913	F5H269;Q9Y485	.;DMXL1_HUMAN	V	1913	ENSP00000309690:D1913V;ENSP00000439479:D1913V	ENSP00000309690:D1913V	D	+	2	0	DMXL1	118534123	1.000000	0.71417	0.936000	0.37596	0.578000	0.36192	3.276000	0.51646	0.941000	0.37499	0.455000	0.32223	GAT		0.393	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		T	118506224	A	T	118506224	3	4	309	1	0	0	0	0	1	0	0	0	4596	333	12	5	5832	5	DMXL1	5	118506224	Missense_Mutation	SNP	A	TCGA-BP-4159-01A-02D-1366-10		118506224	62409036	23	18508											
ROS1	6098	hgsc.bcm.edu;ucsc.edu	37	6	117706977	117706977	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr6:117706977C>T	ENST00000368508.3	-	15	2371	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D720N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	725					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D725N(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACAAAAACGTCGCCTTTCGTG	0.428			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	2	Substitution - Missense(2)	large_intestine(2)											138	123	128					6																	117706977		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2173G>A	6.37:g.117706977C>T	ENSP00000357494:p.Asp725Asn		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.220299	0.01542	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90844	-2.74;-2.74	5.37	3.57	0.40892	.	0.648009	0.15688	N	0.249598	T	0.60392	0.2265	N	0.12182	0.205	0.30685	N	0.751981	B	0.14438	0.01	B	0.06405	0.002	T	0.39623	-0.9605	10	0.10902	T	0.67	.	5.7956	0.18385	0.0:0.6192:0.1415:0.2393	.	725	P08922	ROS1_HUMAN	N	725;720	ENSP00000357494:D725N;ENSP00000357493:D720N	ENSP00000357493:D720N	D	-	1	0	ROS1	117813670	0.024000	0.19004	0.144000	0.22314	0.361000	0.29550	0.130000	0.15850	0.814000	0.34374	0.655000	0.94253	GAC		0.428	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117706977	C	T	117706977	3	4	309	1	0	0	0	0	1	0	0	0	13537	884	31	1	4986	1	ROS1	6	117706977	Missense_Mutation	SNP	C	TCGA-BP-4159-01A-02D-1366-10		117706977	53408090	24	18509											
C7orf28A	51622	hgsc.bcm.edu	37	7	5939957	5939957	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr7:5939957A>G	ENST00000325974.6	+	2	229	c.163A>G	c.(163-165)Aag>Gag	p.K55E	CCZ1_ENST00000537980.1_5'UTR	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	55						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						TGAGGTAGAAAAGAATGAGAA	0.323																																																0													11	11	11					7																	5939957		2102	4227	6329	SO:0001583	missense	51622			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 28A"	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.163A>G	7.37:g.5939957A>G	ENSP00000325681:p.Lys55Glu		A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000325974.6	37	CCDS34597.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124463	0.56613	.	.	ENSG00000122674	ENST00000325974	.	.	.	4.67	4.67	0.58626	.	0.049034	0.85682	D	0.000000	T	0.42223	0.1193	L	0.33485	1.01	0.80722	D	1	B	0.19073	0.033	B	0.21151	0.033	T	0.29579	-1.0007	9	0.05436	T	0.98	-25.1295	13.2705	0.60157	1.0:0.0:0.0:0.0	.	55	P86790	CCZ1L_HUMAN	E	55	.	ENSP00000325681:K55E	K	+	1	0	CCZ1	5906483	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.991000	0.93514	1.727000	0.51537	0.416000	0.27883	AAG		0.323	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340391.1	NM_015622		G	5939957	A	G	5939957	3	3	309	1	0	0	0	0	1	0	0	0	2385	15	1	3	169	3	C7orf28A	7	5939957	Missense_Mutation	SNP	A	TCGA-BP-4159-01A-02D-1366-10		5939957	153198706	25	18510											
GUSB	2990	hgsc.bcm.edu	37	7	65432870	65432870	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr7:65432870A>C	ENST00000304895.4	-	10	1631	c.1501T>G	c.(1501-1503)Ttg>Gtg	p.L501V	GUSB_ENST00000421103.1_Missense_Mutation_p.L355V|GUSB_ENST00000345660.6_Missense_Mutation_p.L450V	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	501					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TAGCTGTTCAAACAGATCACA	0.522																																																0													67	65	66					7																	65432870		2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1501T>G	7.37:g.65432870A>C	ENSP00000302728:p.Leu501Val		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	A	5.957	0.360516	0.11296	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95238	-3.65;-3.65;-3.65	5.45	2.15	0.27550	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.250325	0.39985	N	0.001219	D	0.83487	0.5265	N	0.11255	0.115	0.24607	N	0.993747	B;B	0.14438	0.01;0.0	B;B	0.20577	0.03;0.007	T	0.68390	-0.5421	10	0.02654	T	1	.	8.3781	0.32455	0.1313:0.7109:0.0:0.1578	.	355;501	E9PCV0;P08236	.;BGLR_HUMAN	V	501;355;450	ENSP00000302728:L501V;ENSP00000391390:L355V;ENSP00000340734:L450V	ENSP00000302728:L501V	L	-	1	2	GUSB	65070305	0.998000	0.40836	0.992000	0.48379	0.645000	0.38454	2.087000	0.41653	0.663000	0.31027	-0.326000	0.08463	TTG		0.522	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		C	65432870	A	C	65432870	3	2	309	1	0	0	0	0	1	0	0	0	6904	11	1	5	466	5	GUSB	7	65432870	Missense_Mutation	SNP	A	TCGA-BP-4159-01A-02D-1366-10	59492913	65432870	93705793	26	18511	148	2									
GUSB	2990	hgsc.bcm.edu	37	7	65432873	65432873	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr7:65432873A>G	ENST00000304895.4	-	10	1628	c.1498T>C	c.(1498-1500)Tgt>Cgt	p.C500R	GUSB_ENST00000421103.1_Missense_Mutation_p.C354R|GUSB_ENST00000345660.6_Missense_Mutation_p.C449R	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	500					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTGTTCAAACAGATCACATCC	0.522																																																0													65	63	64					7																	65432873		2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1498T>C	7.37:g.65432873A>G	ENSP00000302728:p.Cys500Arg		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.346863	0.61183	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95342	-3.68;-3.68;-3.68	5.45	4.26	0.50523	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.042416	0.85682	D	0.000000	D	0.97766	0.9267	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97707	1.0188	10	0.72032	D	0.01	.	11.6644	0.51366	0.8513:0.1487:0.0:0.0	.	354;500	E9PCV0;P08236	.;BGLR_HUMAN	R	500;354;449	ENSP00000302728:C500R;ENSP00000391390:C354R;ENSP00000340734:C449R	ENSP00000302728:C500R	C	-	1	0	GUSB	65070308	1.000000	0.71417	0.997000	0.53966	0.610000	0.37248	9.200000	0.95010	0.864000	0.35578	0.443000	0.29094	TGT		0.522	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		G	65432873	A	G	65432873	3	3	309	1	0	0	0	0	1	0	0	0	6904	188	7	3	469	3	GUSB	7	65432873	Missense_Mutation	SNP	A	TCGA-BP-4159-01A-02D-1366-10	3	65432873	93705790	27	18512	148	2									
GRM8	2918	hgsc.bcm.edu	37	7	126086265	126086265	+	Silent	SNP	G	G	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr7:126086265G>T	ENST00000339582.2	-	10	3400	c.2592C>A	c.(2590-2592)acC>acA	p.T864T	GRM8_ENST00000444921.2_Silent_p.T864T|GRM8_ENST00000358373.3_Silent_p.T864T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	864					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGCTTTGCATGGTGGCAGCTG	0.418										HNSCC(24;0.065)																																						0													192	171	178					7																	126086265		2203	4300	6503	SO:0001819	synonymous_variant	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2592C>A	7.37:g.126086265G>T			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				0.418	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			T	126086265	G	T	126086265	2	4	309	1	0	0	0	0	0	0	0	1	6805	1335	47	4		4	GRM8	7	126086265	Silent	SNP	G	TCGA-BP-4159-01A-02D-1366-10	60653392	126086265	33052398	28	18513											
C7orf29	113763	hgsc.bcm.edu;ucsc.edu	37	7	150028096	150028096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr7:150028096G>A	ENST00000343855.4	+	1	1159	c.603G>A	c.(601-603)tgG>tgA	p.W201*	LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	201																	AGTATCTGTGGGAGAATGAGA	0.597																																																0													41	43	42					7																	150028096		2203	4300	6503	SO:0001587	stop_gained	113763			BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"chromosome 7 open reading frame 29"	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.603G>A	7.37:g.150028096G>A	ENSP00000343242:p.Trp201*			Nonsense_Mutation	SNP	ENST00000343855.4	37	CCDS5900.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214467	0.95104	.	.	ENSG00000188707	ENST00000343855	.	.	.	4.18	-0.4	0.12411	.	5.880450	0.03666	U	0.243338	.	.	.	.	.	.	0.54753	D	0.999983	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	0.118	0.00062	0.256:0.2391:0.2359:0.269	.	.	.	.	X	201	.	ENSP00000343242:W201X	W	+	3	0	C7orf29	149659029	0.046000	0.20272	0.070000	0.20053	0.031000	0.12232	-0.893000	0.04127	-0.025000	0.13918	0.558000	0.71614	TGG		0.597	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350702.1	NM_138434		A	150028096	G	A	150028096	4	1	309	1	0	0	0	0	0	1	0	0	2387	1241	43	2	605	2	C7orf29	7	150028096	Nonsense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	23941831	150028096	9110567	29	18514											
CYP7B1	9420	hgsc.bcm.edu;ucsc.edu	37	8	65517238	65517238	+	Splice_Site	SNP	C	C	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr8:65517238C>A	ENST00000310193.3	-	5	1407		c.e5+1		CYP7B1_ENST00000523954.1_Splice_Site	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGTTTACTTACCTCTGGAGCT	0.493																																																0													119	125	123					8																	65517238		2203	4300	6503	SO:0001630	splice_region_variant	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1233+1G>T	8.37:g.65517238C>A			B2RN07|Q9UNF5	Splice_Site	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536615	0.45176	.	.	ENSG00000172817	ENST00000310193	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP7B1	65679792	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	.		0.493	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		Intron	A	65517238	C	A	65517238	5	1	309	1	0	0	0	0	0	0	1	0	4199	521	18	4	294	4	CYP7B1	8	65517238	Splice_Site	SNP	C	TCGA-BP-4159-01A-02D-1366-10		65517238	80846784	30	18515											
INTS8	55656	hgsc.bcm.edu;ucsc.edu	37	8	95850820	95850820	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr8:95850820A>G	ENST00000523731.1	+	8	1124	c.991A>G	c.(991-993)Att>Gtt	p.I331V	INTS8_ENST00000447247.1_Missense_Mutation_p.I331V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	331					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCAAGTCCATATTTGTTTGAG	0.423																																																0													172	154	160					8																	95850820		2203	4300	6503	SO:0001583	missense	55656			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.991A>G	8.37:g.95850820A>G	ENSP00000430338:p.Ile331Val		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.54|11.54	1.669020|1.669020	0.29604|0.29604	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.42|5.42	2.97|2.97	0.34412|0.34412	.|.	0.327504|0.327504	0.38381|0.38381	N|N	0.001708|0.001708	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.08118|0.08118	0|0	0.25234|0.25234	N|N	0.989807|0.989807	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.09377	.|0.004;0.0	T|T	0.19386|0.19386	-1.0307|-1.0307	6|9	.|0.25106	.|T	.|0.35	-18.0105|-18.0105	7.8447|7.8447	0.29419|0.29419	0.789:0.139:0.0721:0.0|0.789:0.139:0.0721:0.0	.|.	.|331;331	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	M|V	152|331	.|.	.|ENSP00000343274:I331V	I|I	+|+	3|1	3|0	INTS8|INTS8	95919996|95919996	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.927000|0.927000	0.56198|0.56198	3.061000|3.061000	0.49963|0.49963	0.327000|0.327000	0.23409|0.23409	0.402000|0.402000	0.26972|0.26972	ATA|ATT		0.423	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		G	95850820	A	G	95850820	3	3	309	1	0	0	0	0	1	0	0	0	7786	449	16	3	1021	3	INTS8	8	95850820	Missense_Mutation	SNP	A	TCGA-BP-4159-01A-02D-1366-10	30333582	95850820	50513202	31	18516											
TG	7038	hgsc.bcm.edu;ucsc.edu	37	8	133911116	133911116	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr8:133911116C>G	ENST00000220616.4	+	14	3331	c.3291C>G	c.(3289-3291)aaC>aaG	p.N1097K	TG_ENST00000377869.1_Missense_Mutation_p.N1097K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1097	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCAAGAAAACCCATCTCCAA	0.537																																																0													77	65	69					8																	133911116		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3291C>G	8.37:g.133911116C>G	ENSP00000220616:p.Asn1097Lys		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	9.571|9.571|9.571	1.121107|1.121107|1.121107	0.20877|0.20877|0.20877	.|.|.	.|.|.	ENSG00000042832|ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000220616|ENST00000543313|ENST00000518505	T;T|.|.	0.62232|.|.	0.04;0.04|.|.	5.74|5.74|5.74	-1.77|-1.77|-1.77	0.07982|0.07982|0.07982	Thyroglobulin type-1 (4);|.|.	0.669691|.|.	0.15081|.|.	N|.|.	0.281652|.|.	T|T|T	0.27559|0.27559|0.27559	0.0677|0.0677|0.0677	L|L|L	0.47716|0.47716|0.47716	1.5|1.5|1.5	0.09310|0.09310|0.09310	N|N|N	1|1|1	B|.|.	0.30146|.|.	0.27|.|.	B|.|.	0.28011|.|.	0.085|.|.	T|T|T	0.32322|0.32322|0.32322	-0.9911|-0.9911|-0.9911	10|5|5	0.51188|.|.	T|.|.	0.08|.|.	.|.|.	1.2715|1.2715|1.2715	0.02022|0.02022|0.02022	0.1427:0.2414:0.3369:0.279|0.1427:0.2414:0.3369:0.279|0.1427:0.2414:0.3369:0.279	.|.|.	1097|.|.	P01266|.|.	THYG_HUMAN|.|.	K|A|S	1097|5|64	ENSP00000367100:N1097K;ENSP00000220616:N1097K|.|.	ENSP00000220616:N1097K|.|.	N|P|T	+|+|+	3|1|2	2|0|0	TG|TG|TG	133980298|133980298|133980298	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.006000|0.006000|0.006000	0.13384|0.13384|0.13384	0.589000|0.589000|0.589000	0.36550|0.36550|0.36550	-1.778000|-1.778000|-1.778000	0.01778|0.01778|0.01778	-0.003000|-0.003000|-0.003000	0.14444|0.14444|0.14444	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	AAC|CCC|ACC		0.537	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		G	133911116	C	G	133911116	3	3	309	1	0	0	0	0	1	0	0	0	15818	506	18	4	3345	4	TG	8	133911116	Missense_Mutation	SNP	C	TCGA-BP-4159-01A-02D-1366-10	38060296	133911116	12452906	32	18517											
FREM1	158326	hgsc.bcm.edu;ucsc.edu	37	9	14792818	14792818	+	Missense_Mutation	SNP	T	T	C	rs577186728		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr9:14792818T>C	ENST00000380880.3	-	22	4687	c.3904A>G	c.(3904-3906)Ata>Gta	p.I1302V	FREM1_ENST00000380881.4_Missense_Mutation_p.I1303V|FREM1_ENST00000422223.2_Missense_Mutation_p.I1302V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1302					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTTCATCTATGGCTGAAAGA	0.358													T|||	1	0.000199681	0.0	0.0014	5008	,	,		18201	0.0		0.0	False		,,,				2504	0.0															0													66	62	63					9																	14792818		1826	4072	5898	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3904A>G	9.37:g.14792818T>C	ENSP00000370262:p.Ile1302Val		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	7.621	0.676908	0.14841	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.50277	0.75;0.75;0.75	6.08	-5.37	0.02681	.	0.922187	0.09530	N	0.789729	T	0.30885	0.0779	L	0.41710	1.295	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20840	-1.0263	10	0.30854	T	0.27	1.2207	6.5598	0.22479	0.1244:0.5578:0.1168:0.201	.	1302	Q5H8C1	FREM1_HUMAN	V	1303;1302;1302	ENSP00000370263:I1303V;ENSP00000412940:I1302V;ENSP00000370262:I1302V	ENSP00000370257:I1305V	I	-	1	0	FREM1	14782818	0.679000	0.27596	0.006000	0.13384	0.466000	0.32739	1.064000	0.30579	-1.018000	0.03363	-0.435000	0.05868	ATA		0.358	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		C	14792818	T	C	14792818	3	2	309	1	0	0	0	0	1	0	0	0	6046	1464	51	3	2749	3	FREM1	9	14792818	Missense_Mutation	SNP	T	TCGA-BP-4159-01A-02D-1366-10		14792818	126420613	33	18518											
KLF9	687	hgsc.bcm.edu	37	9	73027905	73027905	+	Silent	SNP	G	G	A	rs546443212		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr9:73027905G>A	ENST00000377126.2	-	1	1635	c.375C>T	c.(373-375)tcC>tcT	p.S125S		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	125					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						GATGGAGGAGGGAGAGCGGGC	0.612																																																0													92	95	94					9																	73027905		2203	4300	6503	SO:0001819	synonymous_variant	687			BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	1123	protein-coding gene	gene with protein product		602902	"basic transcription element binding protein 1"	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.375C>T	9.37:g.73027905G>A			B2R943|Q16196	Silent	SNP	ENST00000377126.2	37	CCDS6633.1																																																																																				0.612	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		A	73027905	G	A	73027905	2	1	309	1	0	0	0	0	0	0	0	1	8355	1219	43	2		2	KLF9	9	73027905	Silent	SNP	G	TCGA-BP-4159-01A-02D-1366-10	58235087	73027905	68185526	34	18519											
S1PR3	1903	hgsc.bcm.edu;ucsc.edu	37	9	91617209	91617209	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr9:91617209T>C	ENST00000375846.3	+	1	5789	c.1094T>C	c.(1093-1095)aTg>aCg	p.M365T	S1PR3_ENST00000358157.2_Missense_Mutation_p.M365T			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	365					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TCCTGCATCATGGACAAGAAC	0.532																																																0													68	68	68					9																	91617209		2203	4300	6503	SO:0001583	missense	1903			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3167	protein-coding gene	gene with protein product	"sphingosine-1-phosphate receptor 3"	601965	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.1094T>C	9.37:g.91617209T>C	ENSP00000365006:p.Met365Thr		Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.996250	0.00044	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.66099	-0.19;-0.19	5.31	-1.7	0.08159	.	2.152540	0.01684	N	0.026309	T	0.39708	0.1088	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	10	0.36615	T	0.2	.	12.5995	0.56489	0.0:0.4167:0.0:0.5833	.	365	Q99500	S1PR3_HUMAN	T	365	ENSP00000350878:M365T;ENSP00000365006:M365T	ENSP00000350878:M365T	M	+	2	0	S1PR3	90807029	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	-1.257000	0.02866	-0.158000	0.11040	-0.415000	0.06103	ATG		0.532	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		C	91617209	T	C	91617209	3	2	309	1	0	0	0	0	1	0	0	0	13801	1464	51	3	1096	3	S1PR3	9	91617209	Missense_Mutation	SNP	T	TCGA-BP-4159-01A-02D-1366-10	18589304	91617209	49596222	35	18520											
ABL1	25	hgsc.bcm.edu	37	9	133730431	133730431	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr9:133730431G>A	ENST00000318560.5	+	3	878	c.497G>A	c.(496-498)aGa>aAa	p.R166K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	166	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		R -> K (in a melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.R166K(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	ATCTCGCTGAGATACGAAGGG	0.597			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Substitution - Missense(1)	skin(1)											99	87	91					9																	133730431		2203	4300	6503	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.497G>A	9.37:g.133730431G>A	ENSP00000323315:p.Arg166Lys		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663128	0.96745	.	.	ENSG00000097007	ENST00000372348;ENST00000318560	D;D	0.88664	-2.41;-2.41	5.27	5.27	0.74061	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	L	0.48174	1.505	0.80722	D	1	P;P	0.39665	0.547;0.682	P;P	0.51657	0.676;0.676	D	0.91882	0.5516	10	0.87932	D	0	.	17.9692	0.89108	0.0:0.0:1.0:0.0	.	166;203	P00519;Q59FK4	ABL1_HUMAN;.	K	185;166	ENSP00000361423:R185K;ENSP00000323315:R166K	ENSP00000323315:R166K	R	+	2	0	ABL1	132720252	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.752000	0.98900	2.471000	0.83476	0.638000	0.83543	AGA		0.597	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		A	133730431	G	A	133730431	3	1	309	1	0	0	0	0	1	0	0	0	92	942	33	2	647	2	ABL1	9	133730431	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	42113222	133730431	7483000	36	18521											
FAM78A	286336	hgsc.bcm.edu	37	9	134136484	134136484	+	Silent	SNP	G	G	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr9:134136484G>A	ENST00000372271.3	-	2	944	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	FAM78A_ENST00000372269.3_Silent_p.L190L|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	193										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GTGGCCACCAGCCAGGTGGTG	0.612																																																0													103	93	96					9																	134136484		2203	4300	6503	SO:0001819	synonymous_variant	286336			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.577C>T	9.37:g.134136484G>A			Q86VQ9|Q9H7P4	Silent	SNP	ENST00000372271.3	37	CCDS6941.2																																																																																				0.612	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		A	134136484	G	A	134136484	2	1	309	1	0	0	0	0	0	0	0	1	5628	962	34	2		2	FAM78A	9	134136484	Silent	SNP	G	TCGA-BP-4159-01A-02D-1366-10	406053	134136484	7076947	37	18522											
ZNF33A	7581	hgsc.bcm.edu	37	10	38343868	38343868	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr10:38343868C>A	ENST00000458705.2	+	5	971	c.813C>A	c.(811-813)gaC>gaA	p.D271E	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.D272E|ZNF33A_ENST00000432900.2_Missense_Mutation_p.D278E|ZNF33A_ENST00000307441.9_Missense_Mutation_p.D271E			Q06730	ZN33A_HUMAN	zinc finger protein 33A	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CGTCAAGGGACAATCACTATG	0.383																																																0													70	68	69					10																	38343868		2203	4300	6503	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.813C>A	10.37:g.38343868C>A	ENSP00000387713:p.Asp271Glu		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.496306	0.01009	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.04758	3.57;3.56;3.56;3.56	2.05	-4.09	0.03951	.	0.207799	0.24037	N	0.042127	T	0.00845	0.0028	N	0.00385	-1.57	0.20926	N	0.999825	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.30446	-0.9978	10	0.02654	T	1	.	4.8343	0.13456	0.2512:0.3315:0.4173:0.0	.	278;271;272	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	E	272;278;271;271	ENSP00000363747:D272E;ENSP00000402467:D278E;ENSP00000387713:D271E;ENSP00000304268:D271E	ENSP00000304268:D271E	D	+	3	2	ZNF33A	38383874	0.008000	0.16893	0.003000	0.11579	0.012000	0.07955	-0.732000	0.04904	-1.227000	0.02571	-0.535000	0.04281	GAC		0.383	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		A	38343868	C	A	38343868	3	1	309	1	0	0	0	0	1	0	0	0	17859	477	17	4	830	4	ZNF33A	10	38343868	Missense_Mutation	SNP	C	TCGA-BP-4159-01A-02D-1366-10		38343868	97190879	38	18523											
LDB3	11155	hgsc.bcm.edu	37	10	88476182	88476182	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr10:88476182G>C	ENST00000361373.4	+	9	1351	c.1330G>C	c.(1330-1332)Gcc>Ccc	p.A444P	LDB3_ENST00000263066.6_Missense_Mutation_p.A334P|LDB3_ENST00000429277.2_Missense_Mutation_p.A449P|LDB3_ENST00000458213.2_Missense_Mutation_p.A334P|LDB3_ENST00000352360.5_Missense_Mutation_p.A187P	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ccctgcccctgcctacacccc	0.652																																																0													25	24	24					10																	88476182		2192	4264	6456	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1330G>C	10.37:g.88476182G>C	ENSP00000355296:p.Ala444Pro			Missense_Mutation	SNP	ENST00000361373.4	37	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208962	0.39003	.	.	ENSG00000122367	ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.54071	0.78;0.63;0.6;0.63;0.59	4.32	2.05	0.26809	.	0.805872	0.10145	N	0.710390	T	0.29389	0.0732	N	0.03608	-0.345	0.80722	D	1	B;B;B;D;B	0.53885	0.001;0.437;0.0;0.963;0.0	B;B;B;P;B	0.46796	0.001;0.143;0.002;0.527;0.001	T	0.04400	-1.0954	10	0.21540	T	0.41	.	4.7296	0.12957	0.1602:0.2243:0.6155:0.0	.	449;381;187;444;334	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	P	449;334;187;334;444	ENSP00000401437:A449P;ENSP00000409148:A334P;ENSP00000263067:A187P;ENSP00000263066:A334P;ENSP00000355296:A444P	ENSP00000263066:A334P	A	+	1	0	LDB3	88466162	0.931000	0.31567	0.999000	0.59377	0.787000	0.44495	0.960000	0.29253	0.761000	0.33130	0.650000	0.86243	GCC		0.652	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			C	88476182	G	C	88476182	3	2	309	1	0	0	0	0	1	0	0	0	8699	1319	46	4	1700	4	LDB3	10	88476182	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	50132314	88476182	47058565	39	18524											
C10orf28	27291	hgsc.bcm.edu;ucsc.edu	37	10	99968925	99968925	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr10:99968925A>C	ENST00000298999.3	+	5	1357	c.1054A>C	c.(1054-1056)Aca>Cca	p.T352P	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.T352P|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	352							nucleotide binding (GO:0000166)										ACCTCCTGATACAGCTGTCCT	0.403																																																0													182	154	164					10																	99968925		2203	4300	6503	SO:0001583	missense	0			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1054A>C	10.37:g.99968925A>C	ENSP00000298999:p.Thr352Pro		O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.312497	0.23908	.	.	ENSG00000166024	ENST00000370584;ENST00000298999	T;T	0.09163	3.01;3.01	5.05	1.16	0.20824	.	0.645138	0.15159	N	0.277267	T	0.17109	0.0411	M	0.69823	2.125	0.23459	N	0.997636	D;D	0.59767	0.986;0.986	P;P	0.54174	0.744;0.744	T	0.12708	-1.0537	9	.	.	.	-0.3161	1.5387	0.02551	0.5475:0.1814:0.0968:0.1743	.	352;352	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	P	352	ENSP00000359616:T352P;ENSP00000298999:T352P	.	T	+	1	0	C10orf28	99958915	0.298000	0.24417	0.776000	0.31678	0.068000	0.16541	0.659000	0.24994	0.747000	0.32809	0.460000	0.39030	ACA		0.403	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		C	99968925	A	C	99968925	3	2	309	1	0	0	0	0	1	0	0	0	1603	391	14	5	1056	5	C10orf28	10	99968925	Missense_Mutation	SNP	A	TCGA-BP-4159-01A-02D-1366-10	11492743	99968925	35565822	40	18525											
DMBT1	1755	hgsc.bcm.edu;ucsc.edu	37	10	124351826	124351826	+	Missense_Mutation	SNP	A	A	G	rs190617825		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr10:124351826A>G	ENST00000338354.3	+	20	2321	c.2215A>G	c.(2215-2217)Agt>Ggt	p.S739G	DMBT1_ENST00000368909.3_Missense_Mutation_p.S739G|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S729G|DMBT1_ENST00000344338.3_Missense_Mutation_p.S729G|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	739	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGAATGGAAGTGACAGGTG	0.532																																					Ovarian(182;93 2026 18125 22222 38972)											0													359	262	294					10																	124351826		2000	4138	6138	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2215A>G	10.37:g.124351826A>G	ENSP00000342210:p.Ser739Gly		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	A	0.010	-1.759438	0.00657	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	3.69	-2.13	0.07144	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.21103	0.0508	N	0.11651	0.15	0.09310	N	0.999997	P;B;B	0.47350	0.894;0.001;0.0	P;B;B	0.48704	0.587;0.002;0.0	T	0.22312	-1.0220	9	0.21540	T	0.41	.	5.951	0.19246	0.5586:0.2709:0.1705:0.0	.	739;729;739	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	G	739;739;739;739;739;739;729;739;729	ENSP00000342210:S739G;ENSP00000343175:S729G;ENSP00000357905:S739G;ENSP00000357951:S729G	ENSP00000342210:S739G	S	+	1	0	DMBT1	124341816	0.000000	0.05858	0.664000	0.29753	0.335000	0.28730	-3.881000	0.00343	-0.071000	0.12886	-0.259000	0.10710	AGT		0.532	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		G	124351826	A	G	124351826	3	3	309	1	0	0	0	0	1	0	0	0	4579	72	3	3	2293	3	DMBT1	10	124351826	Missense_Mutation	SNP	A	TCGA-BP-4159-01A-02D-1366-10	24382901	124351826	11182921	41	18526											
EBF3	253738	hgsc.bcm.edu	37	10	131671768	131671768	+	Silent	SNP	C	C	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr10:131671768C>A	ENST00000355311.5	-	8	801	c.729G>T	c.(727-729)cgG>cgT	p.R243R	EBF3_ENST00000368648.3_Silent_p.R243R			Q9H4W6	COE3_HUMAN	early B-cell factor 3	243					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGCGGCGGGCCCGCCTCCCGT	0.502																																																0													58	58	58					10																	131671768		2203	4300	6503	SO:0001819	synonymous_variant	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.729G>T	10.37:g.131671768C>A			A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37																																																																																					0.502	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		A	131671768	C	A	131671768	2	1	309	1	0	0	0	0	0	0	0	1	4884	610	22	4		4	EBF3	10	131671768	Silent	SNP	C	TCGA-BP-4159-01A-02D-1366-10	7319942	131671768	3862979	42	18527											
FZD4	8322	hgsc.bcm.edu	37	11	86662759	86662759	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr11:86662759A>C	ENST00000531380.1	-	2	1344	c.1039T>G	c.(1039-1041)Ttc>Gtc	p.F347V	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	347					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAATGTGGAAATAAGAGCTG	0.478																																																0													82	79	80					11																	86662759		2201	4299	6500	SO:0001583	missense	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1039T>G	11.37:g.86662759A>C	ENSP00000434034:p.Phe347Val		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.776044	0.70107	.	.	ENSG00000174804	ENST00000531380	D	0.89196	-2.48	5.59	5.59	0.84812	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94781	0.8315	M	0.86097	2.795	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.95155	0.8276	9	.	.	.	.	15.7697	0.78157	1.0:0.0:0.0:0.0	.	347	Q9ULV1	FZD4_HUMAN	V	347	ENSP00000434034:F347V	.	F	-	1	0	FZD4	86340407	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.135000	0.66039	0.459000	0.35465	TTC		0.478	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		C	86662759	A	C	86662759	3	2	309	1	0	0	0	0	1	0	0	0	6134	14	1	5	578	5	FZD4	11	86662759	Missense_Mutation	SNP	A	TCGA-BP-4159-01A-02D-1366-10		86662759	48343757	43	18528											
MLL2	8085	hgsc.bcm.edu	37	12	49427984	49427984	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr12:49427984G>A	ENST00000301067.7	-	38	10605	c.10606C>T	c.(10606-10608)Cgc>Tgc	p.R3536C	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3536	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGGGACTTGCGGTGTACACCA	0.552																																																0													106	105	105					12																	49427984		2028	4195	6223	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10606C>T	12.37:g.49427984G>A	ENSP00000301067:p.Arg3536Cys		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	9.769	1.172050	0.21704	.	.	ENSG00000167548	ENST00000301067	T	0.44083	0.93	5.38	5.38	0.77491	.	0.000000	0.37304	N	0.002144	T	0.59046	0.2165	L	0.54323	1.7	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.60239	-0.7302	10	0.87932	D	0	.	13.2868	0.60247	0.0:0.0:0.8414:0.1586	.	3536	O14686	MLL2_HUMAN	C	3536	ENSP00000301067:R3536C	ENSP00000301067:R3536C	R	-	1	0	MLL2	47714251	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.427000	0.34881	2.711000	0.92665	0.563000	0.77884	CGC		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49427984	G	A	49427984	3	1	309	1	0	0	0	0	1	0	0	0	9623	1116	39	1	6075	1	MLL2	12	49427984	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10		49427984	84423911	44	18529											
DDIT3	1649	hgsc.bcm.edu	37	12	57910757	57910757	+	Silent	SNP	A	A	G			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr12:57910757A>G	ENST00000346473.3	-	4	524	c.345T>C	c.(343-345)gcT>gcC	p.A115A	MIR616_ENST00000385293.1_RNA|RN7SL312P_ENST00000582079.1_RNA|DDIT3_ENST00000552740.1_Silent_p.A138A|DDIT3_ENST00000547303.1_Silent_p.A115A|DDIT3_ENST00000551116.1_Silent_p.A138A	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	115	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.		A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A115A(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						GCTGCTTTCCAGCCCGGGCTG	0.542			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)		Dom	yes		12	12q13.1-q13.2	1649	DNA-damage-inducible transcript 3		M	1	Substitution - coding silent(1)	large_intestine(1)											142	151	148					12																	57910757		2203	4300	6503	SO:0001819	synonymous_variant	1649			BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"C/EBP zeta"	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.345T>C	12.37:g.57910757A>G			F8VS99	Silent	SNP	ENST00000346473.3	37	CCDS8943.1																																																																																				0.542	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		G	57910757	A	G	57910757	2	3	309	1	0	0	0	0	0	0	0	1	4332	175	7	3		3	DDIT3	12	57910757	Silent	SNP	A	TCGA-BP-4159-01A-02D-1366-10	8482773	57910757	75941138	45	18530											
SLC5A8	160728	hgsc.bcm.edu;ucsc.edu	37	12	101584299	101584299	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr12:101584299G>T	ENST00000536262.2	-	6	1338	c.780C>A	c.(778-780)aaC>aaA	p.N260K		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCTGGGATTGGTTGACACCGT	0.393																																					GBM(60;420 1056 13605 22380 47675)											0													151	144	147					12																	101584299		2203	4300	6503	SO:0001583	missense	160728			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.780C>A	12.37:g.101584299G>T	ENSP00000445340:p.Asn260Lys			Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632992	0.67015	.	.	ENSG00000256870	ENST00000536262	D	0.86865	-2.18	5.86	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.95424	0.8514	H	0.96142	3.775	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.96383	0.9283	10	0.87932	D	0	.	15.3842	0.74684	0.068:0.0:0.932:0.0	.	260	Q8N695	SC5A8_HUMAN	K	260	ENSP00000445340:N260K	ENSP00000445340:N260K	N	-	3	2	SLC5A8	100108430	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	5.412000	0.66392	2.774000	0.95407	0.585000	0.79938	AAC		0.393	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		T	101584299	G	T	101584299	3	4	309	1	0	0	0	0	1	0	0	0	14677	1252	44	4	1092	4	SLC5A8	12	101584299	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	43673542	101584299	32267596	46	18531											
PYGL	5836	hgsc.bcm.edu;ucsc.edu	37	14	51372121	51372121	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr14:51372121T>G	ENST00000216392.7	-	20	2865	c.2533A>C	c.(2533-2535)Aat>Cat	p.N845H	PYGL_ENST00000532462.1_Intron|PYGL_ENST00000544180.2_Missense_Mutation_p.N811H	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	845			N -> S (in dbSNP:rs78558135). {ECO:0000269|PubMed:14702039}.		5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CAATTTCCATTGACTTTGTTA	0.328																																																0													124	122	123					14																	51372121		2203	4300	6503	SO:0001583	missense	5836				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2533A>C	14.37:g.51372121T>G	ENSP00000216392:p.Asn845His		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165684	0.38217	.	.	ENSG00000100504	ENST00000544180;ENST00000216392	D;D	0.93019	-3.12;-3.15	6.07	2.46	0.29980	.	0.548656	0.21650	N	0.071191	D	0.84511	0.5488	N	0.08118	0	0.22050	N	0.999392	B;B	0.31351	0.32;0.214	B;B	0.38056	0.264;0.085	T	0.75858	-0.3169	10	0.49607	T	0.09	-6.3846	5.1483	0.14996	0.0:0.1563:0.1529:0.6908	.	811;845	F5H816;P06737	.;PYGL_HUMAN	H	811;845	ENSP00000443787:N811H;ENSP00000216392:N845H	ENSP00000216392:N845H	N	-	1	0	PYGL	50441871	0.009000	0.17119	0.059000	0.19551	0.424000	0.31475	1.038000	0.30254	0.185000	0.20105	-0.996000	0.02517	AAT		0.328	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		G	51372121	T	G	51372121	3	3	309	1	0	0	0	0	1	0	0	0	12867	1812	63	5	14	5	PYGL	14	51372121	Missense_Mutation	SNP	T	TCGA-BP-4159-01A-02D-1366-10		51372121	55977419	47	18532											
ARHGAP11A	9824	hgsc.bcm.edu	37	15	32921822	32921822	+	Missense_Mutation	SNP	C	C	G	rs145484357		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr15:32921822C>G	ENST00000361627.3	+	8	1686	c.964C>G	c.(964-966)Ctt>Gtt	p.L322V	ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.L322V|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.L322V|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.L133V|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.L133V	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	322					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACCAGTGATTCTTACACCAAA	0.348																																					Colon(45;757 1134 30003 36652)											0													130	130	130					15																	32921822		2201	4300	6501	SO:0001583	missense	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.964C>G	15.37:g.32921822C>G	ENSP00000355090:p.Leu322Val		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	11.04	1.522109	0.27211	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	D;D	0.92495	-3.05;-3.05	5.39	1.21	0.21127	.	0.279510	0.25411	N	0.030873	D	0.86226	0.5882	L	0.44542	1.39	0.23510	N	0.997524	B;B	0.15141	0.005;0.012	B;B	0.16722	0.012;0.016	T	0.73917	-0.3831	10	0.29301	T	0.29	.	9.1559	0.36992	0.0:0.5403:0.3283:0.1314	.	322;133	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	V	322;133	ENSP00000355090:L322V;ENSP00000440073:L133V	ENSP00000355090:L322V	L	+	1	0	ARHGAP11A	30709114	1.000000	0.71417	0.986000	0.45419	0.959000	0.62525	1.169000	0.31871	0.666000	0.31087	-0.223000	0.12442	CTT		0.348	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		G	32921822	C	G	32921822	3	3	309	1	0	0	0	0	1	0	0	0	863	913	32	4	994	4	ARHGAP11A	15	32921822	Missense_Mutation	SNP	C	TCGA-BP-4159-01A-02D-1366-10		32921822	69609570	48	18533											
CILP	8483	hgsc.bcm.edu;ucsc.edu	37	15	65489590	65489590	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr15:65489590C>A	ENST00000261883.4	-	9	3200	c.3034G>T	c.(3034-3036)Ggg>Tgg	p.G1012W		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1012					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TAGAGCATCCCACTGCACTTG	0.592																																																0													88	67	74					15																	65489590		2202	4299	6501	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3034G>T	15.37:g.65489590C>A	ENSP00000261883:p.Gly1012Trp		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713382	0.68730	.	.	ENSG00000138615	ENST00000261883	T	0.10860	2.83	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.18147	-1.0346	10	0.87932	D	0	-19.423	18.4768	0.90795	0.0:1.0:0.0:0.0	.	1012	O75339	CILP1_HUMAN	W	1012	ENSP00000261883:G1012W	ENSP00000261883:G1012W	G	-	1	0	CILP	63276643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.795000	0.85887	2.608000	0.88229	0.655000	0.94253	GGG		0.592	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		A	65489590	C	A	65489590	3	1	309	1	0	0	0	0	1	0	0	0	3431	594	21	4	524	4	CILP	15	65489590	Missense_Mutation	SNP	C	TCGA-BP-4159-01A-02D-1366-10	32567768	65489590	37041802	49	18534											
ATP2A1	487	hgsc.bcm.edu	37	16	28912226	28912226	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr16:28912226A>C	ENST00000357084.3	+	15	2356	c.2089A>C	c.(2089-2091)Atc>Ctc	p.I697L	ATP2A1_ENST00000536376.1_Missense_Mutation_p.I572L|ATP2A1_ENST00000395503.4_Missense_Mutation_p.I697L	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	697					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTACGATGAGATCACAGCCAT	0.632																																																0													61	56	58					16																	28912226		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2089A>C	16.37:g.28912226A>C	ENSP00000349595:p.Ile697Leu		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008625	0.75046	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.96491	-4.03;-4.03;-4.03	5.4	5.4	0.78164	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	M	0.91663	3.23	0.58432	D	0.999994	B;B;B	0.19583	0.037;0.013;0.027	B;B;B	0.37780	0.136;0.258;0.12	D	0.97004	0.9731	10	0.87932	D	0	.	14.4434	0.67333	1.0:0.0:0.0:0.0	.	572;697;697	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	L	697;697;734;572	ENSP00000349595:I697L;ENSP00000378879:I697L;ENSP00000443101:I572L	ENSP00000349595:I697L	I	+	1	0	ATP2A1	28819727	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.258000	0.95555	2.054000	0.61138	0.454000	0.30748	ATC		0.632	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		C	28912226	A	C	28912226	3	2	309	1	0	0	0	0	1	0	0	0	1136	333	12	5	2147	5	ATP2A1	16	28912226	Missense_Mutation	SNP	A	TCGA-BP-4159-01A-02D-1366-10		28912226	61442527	50	18535											
LONP2	83752	hgsc.bcm.edu;ucsc.edu	37	16	48286144	48286144	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr16:48286144G>C	ENST00000285737.4	+	2	429	c.336G>C	c.(334-336)caG>caC	p.Q112H	LONP2_ENST00000535754.1_Missense_Mutation_p.Q112H	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGATTGTACAGGTCTTAAAAG	0.512																																																0													78	70	73					16																	48286144		2200	4300	6500	SO:0001583	missense	83752			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.336G>C	16.37:g.48286144G>C	ENSP00000285737:p.Gln112His			Missense_Mutation	SNP	ENST00000285737.4	37	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199727	0.58126	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T;T	0.42900	0.96;0.96;0.96	5.08	4.11	0.48088	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.324362	0.33572	N	0.004772	T	0.38746	0.1052	L	0.44542	1.39	0.33996	D	0.649691	P;P	0.34815	0.47;0.47	B;B	0.41619	0.361;0.361	T	0.53315	-0.8456	10	0.44086	T	0.13	-15.0781	9.6864	0.40100	0.1561:0.0:0.8439:0.0	.	112;112	B7ZKL7;Q86WA8	.;LONP2_HUMAN	H	112	ENSP00000285737:Q112H;ENSP00000445426:Q112H;ENSP00000415983:Q112H	ENSP00000285737:Q112H	Q	+	3	2	LONP2	46843645	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.459000	0.35234	2.524000	0.85096	0.650000	0.86243	CAG		0.512	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		C	48286144	G	C	48286144	3	2	309	1	0	0	0	0	1	0	0	0	8895	991	35	4	342	4	LONP2	16	48286144	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	19373918	48286144	42068609	51	18536											
NUP93	9688	hgsc.bcm.edu	37	16	56875675	56875675	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr16:56875675T>G	ENST00000308159.5	+	21	2400	c.2279T>G	c.(2278-2280)tTt>tGt	p.F760C	NUP93_ENST00000542526.1_Missense_Mutation_p.F637C|NUP93_ENST00000569842.1_Missense_Mutation_p.F760C|NUP93_ENST00000564887.1_Missense_Mutation_p.F637C	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	760					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCACACAGTTTAAGAGGCTC	0.488																																					Colon(33;610 796 1305 1705 38917)											0													143	127	133					16																	56875675		2198	4300	6498	SO:0001583	missense	9688			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.2279T>G	16.37:g.56875675T>G	ENSP00000310668:p.Phe760Cys		B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034020	0.54896	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.42900	0.96;0.96	6.17	5.02	0.67125	.	0.147736	0.64402	D	0.000006	T	0.25005	0.0607	N	0.14661	0.345	0.43965	D	0.996645	B	0.02656	0.0	B	0.09377	0.004	T	0.06534	-1.0821	10	0.39692	T	0.17	-17.0143	9.2766	0.37703	0.2795:0.0:0.0:0.7205	.	760	Q8N1F7	NUP93_HUMAN	C	760;637	ENSP00000310668:F760C;ENSP00000440235:F637C	ENSP00000310668:F760C	F	+	2	0	NUP93	55433176	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.595000	0.74109	2.371000	0.80710	0.533000	0.62120	TTT		0.488	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		G	56875675	T	G	56875675	3	3	309	1	0	0	0	0	1	0	0	0	10774	1841	64	5	2357	5	NUP93	16	56875675	Missense_Mutation	SNP	T	TCGA-BP-4159-01A-02D-1366-10	8589531	56875675	33479078	52	18537											
SREBF1	6720	hgsc.bcm.edu	37	17	17722891	17722891	+	Silent	SNP	A	A	G	rs371247619		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr17:17722891A>G	ENST00000261646.5	-	3	856	c.672T>C	c.(670-672)ccT>ccC	p.P224P	SREBF1_ENST00000355815.4_Silent_p.P254P|SREBF1_ENST00000338854.5_Silent_p.P224P|SREBF1_ENST00000395757.1_5'UTR|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000435530.2_Silent_p.P224P	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	224					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGGTCGTTACAGGGGCTGCCG	0.677																																																0								A	,	0,4404		0,0,2202	23	27	26		762,672	-0.1	0	17		26	7,8589		0,7,4291	no	coding-synonymous,coding-synonymous	SREBF1	NM_001005291.2,NM_004176.4	,	0,7,6493	GG,GA,AA		0.0814,0.0,0.0538	,	254/1178,224/1148	17722891	7,12993	2202	4298	6500	SO:0001819	synonymous_variant	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.672T>C	17.37:g.17722891A>G			B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	ENST00000261646.5	37	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	A	5.210	0.224182	0.09863	0.0	8.14E-4	ENSG00000072310	ENST00000395751	.	.	.	3.84	-0.0675	0.13760	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.21719	N	0.999578	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	-7.2767	2.9509	0.05861	0.4499:0.0:0.1168:0.4333	.	.	.	.	R	232	.	.	C	-	1	0	SREBF1	17663616	0.001000	0.12720	0.038000	0.18304	0.781000	0.44180	-0.560000	0.05964	0.158000	0.19367	-0.542000	0.04241	TGT		0.677	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		G	17722891	A	G	17722891	2	3	309	1	0	0	0	0	0	0	0	1	15146	175	7	3		3	SREBF1	17	17722891	Silent	SNP	A	TCGA-BP-4159-01A-02D-1366-10		17722891	63472319	53	18538											
ABCC3	8714	hgsc.bcm.edu	37	17	48742604	48742604	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr17:48742604C>G	ENST00000285238.8	+	11	1509	c.1429C>G	c.(1429-1431)Cag>Gag	p.Q477E	ABCC3_ENST00000427699.1_Missense_Mutation_p.Q477E	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	477	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GCGCGCCTTCCAGGTAGGTGC	0.617																																																0													102	72	82					17																	48742604		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1429C>G	17.37:g.48742604C>G	ENSP00000285238:p.Gln477Glu		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787923	0.90367	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.89552	-2.53;-2.53	4.47	4.47	0.54385	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.96163	0.8749	H	0.96015	3.755	0.80722	D	1	P;D	0.63046	0.898;0.992	P;D	0.68039	0.669;0.955	D	0.97386	0.9986	10	0.66056	D	0.02	-24.2967	17.6918	0.88270	0.0:1.0:0.0:0.0	.	477;477	O15438;O15438-5	MRP3_HUMAN;.	E	477	ENSP00000395160:Q477E;ENSP00000285238:Q477E	ENSP00000285238:Q477E	Q	+	1	0	ABCC3	46097603	1.000000	0.71417	0.973000	0.42090	0.974000	0.67602	7.643000	0.83403	2.502000	0.84385	0.655000	0.94253	CAG		0.617	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		G	48742604	C	G	48742604	3	3	309	1	0	0	0	0	1	0	0	0	54	595	21	4	1471	4	ABCC3	17	48742604	Missense_Mutation	SNP	C	TCGA-BP-4159-01A-02D-1366-10	31019713	48742604	32452606	54	18539											
PPM1E	22843	hgsc.bcm.edu	37	17	57047047	57047047	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr17:57047047C>T	ENST00000308249.2	+	4	1060	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	RP11-579O24.3_ENST00000582080.1_RNA	NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	36					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)	p.R311G(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CAGGGCCTTCCGGGTCACTGA	0.517																																																1	Substitution - Missense(1)	breast(1)											83	75	77					17																	57047047		2203	4300	6503	SO:0001583	missense	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.931C>T	17.37:g.57047047C>T	ENSP00000312411:p.Arg311Trp		Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	37	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168648	0.78339	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.18338	2.22	5.49	4.49	0.54785	.	0.052050	0.85682	D	0.000000	T	0.44030	0.1274	M	0.81682	2.555	0.45867	D	0.99872	D;D	0.89917	1.0;1.0	D;D	0.74023	0.972;0.982	T	0.47586	-0.9106	10	0.49607	T	0.09	-6.2566	15.7291	0.77788	0.1378:0.8621:0.0:0.0	.	320;311	Q8WY54-3;Q8WY54-2	.;.	W	311;162	ENSP00000312411:R311W	ENSP00000312411:R311W	R	+	1	2	PPM1E	54401829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.125000	0.57931	1.398000	0.46701	0.563000	0.77884	CGG		0.517	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		T	57047047	C	T	57047047	3	4	309	1	0	0	0	0	1	0	0	0	12343	643	23	1	945	1	PPM1E	17	57047047	Missense_Mutation	SNP	C	TCGA-BP-4159-01A-02D-1366-10	8304443	57047047	24148163	55	18540											
DAND5	199699	hgsc.bcm.edu	37	19	13080510	13080510	+	Silent	SNP	G	G	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr19:13080510G>A	ENST00000317060.2	+	1	215	c.36G>A	c.(34-36)ctG>ctA	p.L12L	DAND5_ENST00000585548.1_Silent_p.L42L	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	12					atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)			kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			TTCTGTGCCTGCTTAGCGGGG	0.627																																																0													107	109	108					19																	13080510		2203	4300	6503	SO:0001819	synonymous_variant	199699			AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"DAN domain family, member 5"			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.36G>A	19.37:g.13080510G>A				Silent	SNP	ENST00000317060.2	37	CCDS12291.1																																																																																				0.627	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452761.1	NM_152654		A	13080510	G	A	13080510	2	1	309	1	0	0	0	0	0	0	0	1	4232	1306	46	2		2	DAND5	19	13080510	Silent	SNP	G	TCGA-BP-4159-01A-02D-1366-10		13080510	46048473	56	18541											
CCDC105	126402	hgsc.bcm.edu	37	19	15131445	15131445	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr19:15131445C>A	ENST00000292574.3	+	3	930	c.848C>A	c.(847-849)cCa>cAa	p.P283Q		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	283						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						ACGCCTCCTCCAGACCCTGTG	0.617																																																0													36	36	36					19																	15131445		2203	4300	6503	SO:0001583	missense	126402			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.848C>A	19.37:g.15131445C>A	ENSP00000292574:p.Pro283Gln		Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789646	0.50102	.	.	ENSG00000160994	ENST00000292574	T	0.16743	2.32	4.11	1.91	0.25777	.	0.695530	0.11752	N	0.532916	T	0.28732	0.0712	M	0.67953	2.075	0.19775	N	0.99996	D	0.53462	0.96	P	0.54815	0.761	T	0.07829	-1.0752	10	0.56958	D	0.05	-3.8262	6.8281	0.23895	0.0:0.7595:0.0:0.2405	.	283	Q8IYK2	CC105_HUMAN	Q	283	ENSP00000292574:P283Q	ENSP00000292574:P283Q	P	+	2	0	CCDC105	14992445	0.001000	0.12720	0.956000	0.39512	0.716000	0.41182	0.954000	0.29175	0.825000	0.34637	0.558000	0.71614	CCA		0.617	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		A	15131445	C	A	15131445	3	1	309	1	0	0	0	0	1	0	0	0	2742	594	21	4	858	4	CCDC105	19	15131445	Missense_Mutation	SNP	C	TCGA-BP-4159-01A-02D-1366-10	2050935	15131445	43997538	57	18542											
COX6B1	1340	hgsc.bcm.edu;ucsc.edu	37	19	36142196	36142196	+	Silent	SNP	T	T	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr19:36142196T>C	ENST00000592141.1	+	2	316	c.51T>C	c.(49-51)ttT>ttC	p.F17F	COX6B1_ENST00000246554.3_Silent_p.F17F|COX6B1_ENST00000392201.1_Silent_p.F17F			P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	17					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCCCCTTTTGACAGCCGCT	0.567																																																0													96	81	86					19																	36142196		2203	4300	6503	SO:0001819	synonymous_variant	1340			BC001015	CCDS12469.1	19q13.1	2011-07-04	2010-01-07	2004-08-12	ENSG00000126267	ENSG00000126267	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2280	protein-coding gene	gene with protein product		124089	"cytochrome c oxidase subunit Vib", "cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)"	COX6B		1650756	Standard	NM_001863		Approved	COXG	uc002oav.3	P14854	OTTHUMG00000048112	ENST00000592141.1:c.51T>C	19.37:g.36142196T>C			B2R5C9|Q6IBL4	Silent	SNP	ENST00000592141.1	37	CCDS12469.1																																																																																				0.567	COX6B1-004	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459068.3	NM_001863		C	36142196	T	C	36142196	2	2	309	1	0	0	0	0	0	0	0	1	3778	1809	63	3		3	COX6B1	19	36142196	Silent	SNP	T	TCGA-BP-4159-01A-02D-1366-10	21010751	36142196	22986787	58	18543											
CD177	57126	hgsc.bcm.edu;ucsc.edu	37	19	43866359	43866359	+	RNA	SNP	C	C	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr19:43866359C>T	ENST00000607109.1	-	0	300				CD177_ENST00000378009.4_RNA|CD177_ENST00000607517.1_RNA																							TGTGCAGCCTCCTGCCTCTCA	0.622																																																0													76	72	73					19																	43866359		2038	4186	6224			57126																															19.37:g.43866359C>T				Missense_Mutation	SNP	ENST00000607109.1	37																																																																																					0.622	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1			T	43866359	C	T	43866359	1	4	309	0	1	0	0	0	0	0	0	0	2973	855	30	2		2	CD177	19	43866359	RNA	SNP	C	TCGA-BP-4159-01A-02D-1366-10	7724163	43866359	15262624	59	18544											
CACNG7	59284	hgsc.bcm.edu;ucsc.edu	37	19	54444777	54444777	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr19:54444777G>T	ENST00000391767.1	+	5	690	c.478G>T	c.(478-480)Gtc>Ttc	p.V160F	CACNG7_ENST00000222212.2_Missense_Mutation_p.V160F|CACNG7_ENST00000391766.1_Missense_Mutation_p.V160F|CACNG7_ENST00000468076.1_3'UTR			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	160					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CAACGACGAGGTCATGAACAG	0.557																																																0													159	134	142					19																	54444777		2203	4300	6503	SO:0001583	missense	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.478G>T	19.37:g.54444777G>T	ENSP00000375647:p.Val160Phe		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719785	0.89205	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.87966	-2.32;-2.32;-2.32	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	D	0.87545	0.6204	L	0.40543	1.245	0.80722	D	1	D	0.57257	0.979	P	0.59056	0.851	D	0.83624	0.0141	10	0.10902	T	0.67	-32.0205	15.4355	0.75143	0.0:0.0:1.0:0.0	.	160	P62955	CCG7_HUMAN	F	160	ENSP00000375647:V160F;ENSP00000222212:V160F;ENSP00000375646:V160F	ENSP00000222212:V160F	V	+	1	0	CACNG7	59136589	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.496000	0.45346	2.323000	0.78572	0.462000	0.41574	GTC		0.557	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			T	54444777	G	T	54444777	3	4	309	1	0	0	0	0	1	0	0	0	2564	1261	44	4	492	4	CACNG7	19	54444777	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	10578418	54444777	4684206	60	18545											
PDYN	5173	hgsc.bcm.edu	37	20	1961196	1961196	+	Missense_Mutation	SNP	G	G	C	rs370283678		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr20:1961196G>C	ENST00000217305.2	-	4	763	c.538C>G	c.(538-540)Cgc>Ggc	p.R180G	PDYN_ENST00000539905.1_Missense_Mutation_p.R180G|PDYN_ENST00000540134.1_Missense_Mutation_p.R180G|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R180C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGTATTTGCGCAAAAAGCCC	0.602																																																1	Substitution - Missense(1)	ovary(1)											98	103	101					20																	1961196		2203	4300	6503	SO:0001583	missense	5173				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.538C>G	20.37:g.1961196G>C	ENSP00000217305:p.Arg180Gly		A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294688	0.81025	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86769	-2.17;-2.17;-2.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:0.0:1.0:0.0	.	180	P01213	PDYN_HUMAN	G	180	ENSP00000440185:R180G;ENSP00000442259:R180G;ENSP00000217305:R180G	ENSP00000217305:R180G	R	-	1	0	PDYN	1909196	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	1.034000	0.30204	2.445000	0.82738	0.313000	0.20887	CGC		0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			C	1961196	G	C	1961196	3	2	309	1	0	0	0	0	1	0	0	0	11701	1087	38	4	230	4	PDYN	20	1961196	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10		1961196	61064324	61	18546											
PABPC1L	80336	hgsc.bcm.edu	37	20	43541488	43541488	+	Silent	SNP	T	T	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr20:43541488T>C	ENST00000217073.2	+	2	381	c.381T>C	c.(379-381)tcT>tcC	p.S127S	PABPC1L_ENST00000255136.3_Silent_p.S127S|PABPC1L_ENST00000217074.4_Silent_p.S127S|PABPC1L_ENST00000537323.1_Silent_p.S127S			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	127	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						ACATCCTCTCTTGCAAGGTAG	0.478																																																0													114	96	101					20																	43541488		1568	3582	5150	SO:0001819	synonymous_variant	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.381T>C	20.37:g.43541488T>C			Q4VY17	Silent	SNP	ENST00000217073.2	37	CCDS42878.1																																																																																				0.478	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			C	43541488	T	C	43541488	2	2	309	1	0	0	0	0	0	0	0	1	11366	1596	56	3		3	PABPC1L	20	43541488	Silent	SNP	T	TCGA-BP-4159-01A-02D-1366-10	41580292	43541488	19484032	62	18547											
TFF1	7031	hgsc.bcm.edu	37	21	43783445	43783445	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chr21:43783445T>G	ENST00000291527.2	-	2	255	c.157A>C	c.(157-159)Aat>Cat	p.N53H		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	53	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|digestion (GO:0007586)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of cell proliferation (GO:0008285)|response to estradiol (GO:0032355)|response to iron ion (GO:0010039)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)				cervix(1)|lung(1)	2						CAGCCCTTATTTGCACACTGG	0.517																																																0													101	88	93					21																	43783445		2203	4300	6503	SO:0001583	missense	7031			BC032811	CCDS13685.1	21q22.3	2012-10-02	2007-01-29		ENSG00000160182	ENSG00000160182			11755	protein-coding gene	gene with protein product		113710	"breast cancer, estrogen-inducible sequence expressed in"	BCEI		9043862	Standard	NM_003225		Approved	D21S21, HPS2, pS2, pNR-2, HP1.A	uc002zax.1	P04155	OTTHUMG00000086799	ENST00000291527.2:c.157A>C	21.37:g.43783445T>G	ENSP00000291527:p.Asn53His			Missense_Mutation	SNP	ENST00000291527.2	37	CCDS13685.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314344	0.40996	.	.	ENSG00000160182	ENST00000291527	T	0.55413	0.52	4.05	-2.29	0.06805	P-type trefoil, conserved site (1);P-type trefoil (5);	2.068430	0.01883	N	0.038018	T	0.41534	0.1163	.	.	.	0.09310	N	1	P	0.34757	0.467	B	0.39258	0.295	T	0.22347	-1.0219	8	.	.	.	-16.4348	4.9549	0.14035	0.0:0.4506:0.1755:0.3739	.	53	P04155	TFF1_HUMAN	H	53	ENSP00000291527:N53H	.	N	-	1	0	TFF1	42656514	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.259000	0.01178	-0.280000	0.09154	0.379000	0.24179	AAT		0.517	TFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195361.1	NM_003225		G	43783445	T	G	43783445	3	3	309	1	0	0	0	0	1	0	0	0	15808	1841	64	5	105	5	TFF1	21	43783445	Missense_Mutation	SNP	T	TCGA-BP-4159-01A-02D-1366-10		43783445	4346450	63	18548											
FRMPD4	9758	hgsc.bcm.edu	37	X	12701706	12701706	+	Splice_Site	SNP	G	G	T			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chrX:12701706G>T	ENST00000380682.1	+	6	1079	c.573G>T	c.(571-573)tcG>tcT	p.S191S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	191					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S191S(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCCAAGTGTCGGTGAGTTTAC	0.448																																																1	Substitution - coding silent(1)	central_nervous_system(1)											96	73	81					X																	12701706		2203	4300	6503	SO:0001630	splice_region_variant	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.573+1G>T	X.37:g.12701706G>T			A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.448	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	Silent	T	12701706	G	T	12701706	5	4	309	1	0	0	0	0	0	0	1	0	6061	1130	39	4	595	4	FRMPD4	23	12701706	Splice_Site	SNP	G	TCGA-BP-4159-01A-02D-1366-10		12701706	142568854	64	18549											
CDKL5	6792	hgsc.bcm.edu	37	X	18622766	18622766	+	Silent	SNP	G	G	T	rs371603866		TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chrX:18622766G>T	ENST00000379989.3	+	13	2007	c.1722G>T	c.(1720-1722)ccG>ccT	p.P574P	CDKL5_ENST00000379996.3_Silent_p.P574P|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	574			P -> Q (in an ovarian serous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGAAGCTGCCGGAGCACATGG	0.507																																																0													124	117	119					X																	18622766		2203	4300	6503	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1722G>T	X.37:g.18622766G>T			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	CCDS14186.1																																																																																				0.507	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		T	18622766	G	T	18622766	2	4	309	1	0	0	0	0	0	0	0	1	3159	1103	39	4		4	CDKL5	23	18622766	Silent	SNP	G	TCGA-BP-4159-01A-02D-1366-10	5921060	18622766	136647794	65	18550											
KDM5C	8242	hgsc.bcm.edu	37	X	53240705	53240705	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chrX:53240705T>A	ENST00000375401.3	-	10	1907	c.1375A>T	c.(1375-1377)Aaa>Taa	p.K459*	KDM5C_ENST00000404049.3_Nonsense_Mutation_p.K458*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.K418*|KDM5C_ENST00000465402.1_5'Flank|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.K459*|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.K392*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	459					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGGTGCCGTTTACTGTCACTG	0.463			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													93	65	75					X																	53240705		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1375A>T	X.37:g.53240705T>A	ENSP00000364550:p.Lys459*		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	T	44	10.848525	0.99477	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	5.79	5.79	0.91817	.	0.045370	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7162	12.8555	0.57882	0.0:0.0:0.0:1.0	.	.	.	.	X	392;459;458;459;418	.	ENSP00000364528:K459X	K	-	1	0	KDM5C	53257430	0.991000	0.36638	1.000000	0.80357	0.933000	0.57130	1.431000	0.34925	1.943000	0.56356	0.486000	0.48141	AAA		0.463	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53240705	T	A	53240705	4	1	309	1	0	0	0	0	0	1	0	0	8137	1763	61	5	3473	5	KDM5C	23	53240705	Nonsense_Mutation	SNP	T	TCGA-BP-4159-01A-02D-1366-10	34617939	53240705	102029855	66	18551											
GNL3L	54552	hgsc.bcm.edu	37	X	54577458	54577458	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chrX:54577458G>A	ENST00000336470.4	+	10	977	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	GNL3L_ENST00000360845.2_Missense_Mutation_p.V280M	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	280	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CGCATGCAGCGTGGGAGCTGT	0.557																																																0													104	83	90					X																	54577458		2203	4300	6503	SO:0001583	missense	54552			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.838G>A	X.37:g.54577458G>A	ENSP00000338573:p.Val280Met			Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154464	0.78114	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.25085	1.82;1.82	4.63	4.63	0.57726	GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71262	-0.4645	10	0.87932	D	0	-10.5393	15.9996	0.80285	0.0:0.0:1.0:0.0	.	280	Q9NVN8	GNL3L_HUMAN	M	280	ENSP00000338573:V280M;ENSP00000354091:V280M	ENSP00000338573:V280M	V	+	1	0	GNL3L	54594183	1.000000	0.71417	0.956000	0.39512	0.700000	0.40528	9.005000	0.93587	2.227000	0.72691	0.436000	0.28706	GTG		0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		A	54577458	G	A	54577458	3	1	309	1	0	0	0	0	1	0	0	0	6540	1145	40	1	872	1	GNL3L	23	54577458	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	1336753	54577458	100693102	67	18552											
KIAA2022	340533	hgsc.bcm.edu	37	X	73964285	73964285	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chrX:73964285T>A	ENST00000055682.6	-	3	718	c.107A>T	c.(106-108)aAg>aTg	p.K36M		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	36					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGCAAATGACTTCATTGCCAC	0.463																																																0													34	34	34					X																	73964285		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.107A>T	X.37:g.73964285T>A	ENSP00000055682:p.Lys36Met		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.733984	0.69189	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.38887	1.11;1.11	5.11	5.11	0.69529	.	0.177255	0.49305	D	0.000158	T	0.49508	0.1561	L	0.36672	1.1	0.35559	D	0.804489	D	0.76494	0.999	D	0.65443	0.935	T	0.62329	-0.6877	10	0.87932	D	0	-13.7939	8.8093	0.34956	0.0:0.0959:0.0:0.9041	.	36	Q5QGS0	K2022_HUMAN	M	36	ENSP00000362567:K36M;ENSP00000055682:K36M	ENSP00000055682:K36M	K	-	2	0	KIAA2022	73881010	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	3.965000	0.56788	1.886000	0.54624	0.486000	0.48141	AAG		0.463	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		A	73964285	T	A	73964285	3	1	309	1	0	0	0	0	1	0	0	0	8271	1609	56	5	4451	5	KIAA2022	23	73964285	Missense_Mutation	SNP	T	TCGA-BP-4159-01A-02D-1366-10	19386827	73964285	81306275	68	18553											
GAB3	139716	hgsc.bcm.edu	37	X	153940887	153940887	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chrX:153940887G>C	ENST00000369575.3	-	4	714	c.683C>G	c.(682-684)cCg>cGg	p.P228R	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Missense_Mutation_p.P229R	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	228					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGAGGGGAGCGGCTGCAGGCA	0.542																																																0													78	78	78					X																	153940887		2203	4300	6503	SO:0001583	missense	139716			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.683C>G	X.37:g.153940887G>C	ENSP00000358588:p.Pro228Arg		A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	3.044	-0.196802	0.06259	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.18657	2.2;2.2;2.2	5.53	1.6	0.23607	.	0.947335	0.08825	N	0.888243	T	0.20251	0.0487	M	0.65975	2.015	0.09310	N	1	B;B;B	0.29341	0.242;0.111;0.111	B;B;B	0.25506	0.061;0.037;0.037	T	0.29336	-1.0015	10	0.26408	T	0.33	-7.5065	5.6105	0.17402	0.2586:0.1408:0.6006:0.0	.	229;229;228	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	R	228;229;229	ENSP00000358588:P228R;ENSP00000358581:P229R;ENSP00000399588:P229R	ENSP00000358581:P229R	P	-	2	0	GAB3	153594081	0.206000	0.23470	0.000000	0.03702	0.062000	0.15995	3.028000	0.49705	0.159000	0.19401	-0.322000	0.08575	CCG		0.542	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		C	153940887	G	C	153940887	3	2	309	1	0	0	0	0	1	0	0	0	6152	1116	39	4	1105	4	GAB3	23	153940887	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	79976602	153940887	1329673	69	18554											
GAB3	139716	hgsc.bcm.edu	37	X	153940946	153940946	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4159-01A-02D-1366-10	TCGA-BP-4159-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b0b1d34-a704-4d47-89e9-d1b0d187c8de	63af4766-b112-4605-a1b9-a26272148aa7	g.chrX:153940946G>C	ENST00000369575.3	-	4	655	c.624C>G	c.(622-624)aaC>aaG	p.N208K	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Missense_Mutation_p.N209K	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	208					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AACGGTCTGAGTTTGACCAGC	0.507																																																0													59	55	57					X																	153940946		2203	4300	6503	SO:0001583	missense	139716			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.624C>G	X.37:g.153940946G>C	ENSP00000358588:p.Asn208Lys		A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840603	0.51057	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.27890	1.64;1.64;1.64	5.53	0.542	0.17174	.	0.131367	0.64402	D	0.000003	T	0.42017	0.1184	M	0.77616	2.38	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.963;0.963	T	0.60571	-0.7237	10	0.02654	T	1	-11.8113	4.4623	0.11671	0.4499:0.0:0.4007:0.1494	.	209;209;208	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	K	208;209;209	ENSP00000358588:N208K;ENSP00000358581:N209K;ENSP00000399588:N209K	ENSP00000358581:N209K	N	-	3	2	GAB3	153594140	1.000000	0.71417	0.964000	0.40570	0.786000	0.44442	1.315000	0.33608	-0.066000	0.12998	0.506000	0.49869	AAC		0.507	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		C	153940946	G	C	153940946	3	2	309	1	0	0	0	0	1	0	0	0	6152	1020	36	4	1164	4	GAB3	23	153940946	Missense_Mutation	SNP	G	TCGA-BP-4159-01A-02D-1366-10	59	153940946	1329614	70	18555											
PANK4	55229	hgsc.bcm.edu;ucsc.edu	37	1	2443118	2443118	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr1:2443118G>A	ENST00000378466.3	-	14	1744	c.1732C>T	c.(1732-1734)Ctt>Ttt	p.L578F	PANK4_ENST00000435556.3_Missense_Mutation_p.L539F	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	578					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCGGATTCAAGGACACTGCAT	0.502																																																0													101	86	91					1																	2443118		2202	4297	6499	SO:0001583	missense	55229			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1732C>T	1.37:g.2443118G>A	ENSP00000367727:p.Leu578Phe		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	CCDS42.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352428	0.41700	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.07688	3.17;3.17	4.96	4.96	0.65561	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.09949	0.0244	L	0.41492	1.28	0.80722	D	1	P;P	0.42827	0.791;0.791	B;B	0.43155	0.41;0.41	T	0.27020	-1.0086	10	0.10902	T	0.67	-14.8608	17.1768	0.86844	0.0:0.0:1.0:0.0	.	539;578	E9PHT6;Q9NVE7	.;PANK4_HUMAN	F	578;539	ENSP00000367727:L578F;ENSP00000421433:L539F	ENSP00000367727:L578F	L	-	1	0	PANK4	2432978	1.000000	0.71417	0.951000	0.38953	0.297000	0.27493	8.502000	0.90505	2.299000	0.77371	0.462000	0.41574	CTT		0.502	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			A	2443118	G	A	2443118	3	1	310	1	0	0	0	0	1	0	0	0	11421	1000	35	2	613	2	PANK4	1	2443118	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10		2443118	246807503	1	18556											
FOXJ3	22887	hgsc.bcm.edu	37	1	42693624	42693624	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr1:42693624G>A	ENST00000372572.1	-	7	769	c.458C>T	c.(457-459)gCa>gTa	p.A153V	FOXJ3_ENST00000361776.1_Missense_Mutation_p.A153V|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A153V|FOXJ3_ENST00000361346.1_Missense_Mutation_p.A153V|FOXJ3_ENST00000372573.1_Missense_Mutation_p.A153V	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	153					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTGTCTATTGCCCAGTAGGA	0.378																																																0													85	77	79					1																	42693624		2203	4300	6503	SO:0001583	missense	22887			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.458C>T	1.37:g.42693624G>A	ENSP00000361653:p.Ala153Val		A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415428	0.83449	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	5.68	5.68	0.88126	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.058247	0.64402	D	0.000004	D	0.96197	0.8760	L	0.38175	1.15	0.80722	D	1	P;D	0.71674	0.851;0.998	B;D	0.69142	0.372;0.962	D	0.96749	0.9552	10	0.87932	D	0	.	17.2843	0.87137	0.0:0.0:1.0:0.0	.	153;153	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	V	153	ENSP00000361654:A153V;ENSP00000361653:A153V;ENSP00000354620:A153V;ENSP00000354449:A153V;ENSP00000439044:A153V;ENSP00000393408:A153V	ENSP00000354620:A153V	A	-	2	0	FOXJ3	42466211	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.770000	0.85390	2.666000	0.90696	0.655000	0.94253	GCA		0.378	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		A	42693624	G	A	42693624	3	1	310	1	0	0	0	0	1	0	0	0	6015	1319	46	2	1446	2	FOXJ3	1	42693624	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10	40250506	42693624	206556997	2	18557											
SLC1A7	6512	hgsc.bcm.edu	37	1	53608000	53608000	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr1:53608000C>T	ENST00000371494.4	-	1	249	c.122G>A	c.(121-123)cGc>cAc	p.R41H	SLC1A7_ENST00000371491.4_Missense_Mutation_p.R41H	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	41			R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		TGGTGAGAGGCGCCGGGTCCT	0.647																																					NSCLC(128;80 1811 21245 38490 51715)											0													78	58	65					1																	53608000		2186	4276	6462	SO:0001583	missense	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.122G>A	1.37:g.53608000C>T	ENSP00000360549:p.Arg41His		Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	CCDS574.1	.	.	.	.	.	.	.	.	.	.	T	6.090	0.384910	0.11524	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.59083	0.29;0.29	5.53	-0.926	0.10455	.	0.287811	0.34906	N	0.003581	T	0.28167	0.0695	N	0.01874	-0.695	0.27780	N	0.943207	B;B	0.06786	0.001;0.0	B;B	0.08055	0.0;0.003	T	0.14727	-1.0462	10	0.37606	T	0.19	-19.0199	13.7256	0.62756	0.0:0.6784:0.0:0.3216	.	41;41	Q9BW45;O00341	.;EAA5_HUMAN	H	41	ENSP00000360549:R41H;ENSP00000360546:R41H	ENSP00000360546:R41H	R	-	2	0	SLC1A7	53380588	0.025000	0.19082	0.978000	0.43139	0.425000	0.31504	-0.248000	0.08854	-0.400000	0.07656	-2.410000	0.00221	CGC		0.647	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		T	53608000	C	T	53608000	3	4	310	1	0	0	0	0	1	0	0	0	14443	768	27	1	1604	1	SLC1A7	1	53608000	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10	10914376	53608000	195642621	3	18558											
ACP1	52	hgsc.bcm.edu	37	2	265004	265004	+	Missense_Mutation	SNP	C	C	G	rs147428558		TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr2:265004C>G	ENST00000272065.5	+	1	133	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V	ACP1_ENST00000272067.6_Missense_Mutation_p.L14V|SH3YL1_ENST00000403712.2_5'Flank|SH3YL1_ENST00000468321.1_5'Flank|SH3YL1_ENST00000356150.5_5'Flank|SH3YL1_ENST00000405430.1_5'Flank|ACP1_ENST00000405233.1_Missense_Mutation_p.L14V|SH3YL1_ENST00000403658.1_5'Flank|ACP1_ENST00000407983.3_Missense_Mutation_p.L14V|ACP1_ENST00000439645.2_Missense_Mutation_p.L14V|SH3YL1_ENST00000402632.1_5'Flank	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	14				CLGNICRS -> PARREAAR (in Ref. 5; AAB27085). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	GTTTGTGTGTCTGGGTAAGAG	0.647																																																0													176	138	151					2																	265004		2203	4300	6503	SO:0001583	missense	52			M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"Protein tyrosine phosphatases / Class II Cys-based PTPs"	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.40C>G	2.37:g.265004C>G	ENSP00000272065:p.Leu14Val		A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933859	0.52866	.	.	ENSG00000143727	ENST00000272067;ENST00000272065;ENST00000407983;ENST00000439645;ENST00000405233;ENST00000449425	T;T;T;T;T	0.30714	2.22;2.22;1.52;2.22;2.22	4.21	1.35	0.21983	Phosphotyrosine protein phosphatase I superfamily (3);	0.000000	0.64402	D	0.000003	T	0.39682	0.1087	M	0.73430	2.235	0.80722	D	1	B;B;B	0.29136	0.023;0.001;0.234	B;B;B	0.42692	0.041;0.012;0.395	T	0.31166	-0.9953	10	0.87932	D	0	-6.2011	6.8407	0.23961	0.0:0.6044:0.0:0.3956	.	14;14;14	P24666-2;P24666;B5MCC7	.;PPAC_HUMAN;.	V	14	ENSP00000272067:L14V;ENSP00000272065:L14V;ENSP00000385404:L14V;ENSP00000408596:L14V;ENSP00000384307:L14V	ENSP00000272065:L14V	L	+	1	2	ACP1	255004	1.000000	0.71417	0.997000	0.53966	0.597000	0.36814	0.931000	0.28871	0.152000	0.19188	0.591000	0.81541	CTG		0.647	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			G	265004	C	G	265004	3	3	310	1	0	0	0	0	1	0	0	0	162	912	32	4	42	4	ACP1	2	265004	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10		265004	242934369	4	18559											
C2orf43	60526	hgsc.bcm.edu;ucsc.edu	37	2	20990106	20990106	+	Silent	SNP	A	A	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr2:20990106A>T	ENST00000237822.3	-	3	286	c.207T>A	c.(205-207)tcT>tcA	p.S69S	C2orf43_ENST00000419825.2_Silent_p.S69S|C2orf43_ENST00000403006.2_5'UTR|C2orf43_ENST00000435420.2_Intron|C2orf43_ENST00000440866.2_Silent_p.S69S|C2orf43_ENST00000541941.1_5'UTR|C2orf43_ENST00000381090.3_Silent_p.S69S	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	69										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTTGTCAAAGAGTATAAAG	0.408																																																0													85	87	86					2																	20990106		2203	4300	6503	SO:0001819	synonymous_variant	60526			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.207T>A	2.37:g.20990106A>T			B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Silent	SNP	ENST00000237822.3	37	CCDS1702.1																																																																																				0.408	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		T	20990106	A	T	20990106	2	4	310	1	0	0	0	0	0	0	0	1	2169	59	3	5		5	C2orf43	2	20990106	Silent	SNP	A	TCGA-BP-4160-01A-02D-1366-10	20725102	20990106	222209267	5	18560											
DNMT3A	1788	hgsc.bcm.edu	37	2	25498413	25498413	+	Splice_Site	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr2:25498413C>T	ENST00000264709.3	-	5	786		c.e5-1		DNMT3A_ENST00000321117.5_Splice_Site	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha						C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTCTTTGCCTGTGGAGAGG	0.557			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													184	198	193					2																	25498413		2203	4300	6503	SO:0001630	splice_region_variant	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.449-1G>A	2.37:g.25498413C>T			E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033320	0.75504	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0066	0.58707	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNMT3A	25351917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.098000	0.57748	2.116000	0.64780	0.561000	0.74099	.		0.557	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Intron	T	25498413	C	T	25498413	5	4	310	1	0	0	0	0	0	0	1	0	4678	695	24	2	2446	2	DNMT3A	2	25498413	Splice_Site	SNP	C	TCGA-BP-4160-01A-02D-1366-10	4508307	25498413	217700960	6	18561											
CCDC108	255101	hgsc.bcm.edu	37	2	219892423	219892423	+	Silent	SNP	A	A	G			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr2:219892423A>G	ENST00000341552.5	-	13	2243	c.2160T>C	c.(2158-2160)ccT>ccC	p.P720P	CCDC108_ENST00000453220.1_Silent_p.P720P|CCDC108_ENST00000410037.1_Silent_p.P655P|CCDC108_ENST00000441968.1_Silent_p.P720P|CCDC108_ENST00000409865.3_Silent_p.P709P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	720						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.P720P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTTGGGGTGAGGCGGCTGGA	0.612																																																1	Substitution - coding silent(1)	ovary(1)											80	81	81					2																	219892423		2203	4300	6503	SO:0001819	synonymous_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2160T>C	2.37:g.219892423A>G			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	CCDS2430.2																																																																																				0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		G	219892423	A	G	219892423	2	3	310	1	0	0	0	0	0	0	0	1	2745	291	11	3		3	CCDC108	2	219892423	Silent	SNP	A	TCGA-BP-4160-01A-02D-1366-10	194394010	219892423	23306950	7	18562											
CCR9	10803	hgsc.bcm.edu	37	3	45943248	45943248	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr3:45943248G>C	ENST00000357632.2	+	3	1148	c.968G>C	c.(967-969)aGa>aCa	p.R323T	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.R311T|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.R311T	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	323					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.R323I(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GTGGGTGAGAGATTCCGCCGG	0.522																																																1	Substitution - Missense(1)	ovary(1)											107	100	103					3																	45943248		2203	4300	6503	SO:0001583	missense	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.968G>C	3.37:g.45943248G>C	ENSP00000350256:p.Arg323Thr		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261979	0.59431	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.37411	1.2;1.2;1.2	4.96	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	L	0.60455	1.87	0.47949	D	0.999556	D	0.63046	0.992	P	0.61477	0.889	T	0.49560	-0.8927	10	0.87932	D	0	.	9.0593	0.36425	0.2137:0.0:0.7863:0.0	.	323	P51686	CCR9_HUMAN	T	323;311;311	ENSP00000350256:R323T;ENSP00000379292:R311T;ENSP00000348260:R311T	ENSP00000348260:R311T	R	+	2	0	CCR9	45918252	1.000000	0.71417	0.983000	0.44433	0.969000	0.65631	3.324000	0.52022	2.289000	0.77006	0.563000	0.77884	AGA		0.522	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			C	45943248	G	C	45943248	3	2	310	1	0	0	0	0	1	0	0	0	2950	942	33	4	974	4	CCR9	3	45943248	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10		45943248	152079182	8	18563											
C3orf36	80111	hgsc.bcm.edu	37	3	133647487	133647487	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr3:133647487C>T	ENST00000408895.2	-	1	1169	c.161G>A	c.(160-162)aGg>aAg	p.R54K		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	54										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GAATGCCTTCCTGAGCGTGGT	0.652																																																0													39	41	41					3																	133647487		2203	4300	6503	SO:0001583	missense	80111			AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.161G>A	3.37:g.133647487C>T	ENSP00000386219:p.Arg54Lys		Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	C	9.617	1.132863	0.21041	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.11	1.22	0.21188	.	.	.	.	.	T	0.12944	0.0314	N	0.08118	0	0.09310	N	1	B	0.33694	0.421	B	0.27796	0.083	T	0.16778	-1.0391	8	0.87932	D	0	.	4.5545	0.12130	0.0:0.8087:0.0:0.1913	.	54	Q3SXR2	CC036_HUMAN	K	54	.	ENSP00000386219:R54K	R	-	2	0	C3orf36	135130177	0.005000	0.15991	0.026000	0.17262	0.316000	0.28119	1.097000	0.30988	0.465000	0.27167	0.313000	0.20887	AGG		0.652	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041		T	133647487	C	T	133647487	3	4	310	1	0	0	0	0	1	0	0	0	2228	681	24	2	340	2	C3orf36	3	133647487	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10	87704239	133647487	64374943	9	18564											
ZBTB38	253461	hgsc.bcm.edu	37	3	141164552	141164552	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr3:141164552A>G	ENST00000514251.1	+	4	3601	c.3322A>G	c.(3322-3324)Acc>Gcc	p.T1108A	ZBTB38_ENST00000441582.2_Missense_Mutation_p.T1108A|ZBTB38_ENST00000321464.5_Missense_Mutation_p.T1109A					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTATCTCTCCACCAAAAGGAA	0.458																																																0													88	83	85					3																	141164552		1907	4133	6040	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3322A>G	3.37:g.141164552A>G	ENSP00000426387:p.Thr1108Ala			Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.579071	0.65878	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08984	3.03;3.03;3.04	5.81	5.81	0.92471	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	N	0.21508	0.67	0.36567	D	0.872759	D;D	0.76494	0.999;0.999	D;D	0.68039	0.955;0.955	T	0.22417	-1.0217	9	.	.	.	-27.2877	16.1699	0.81801	1.0:0.0:0.0:0.0	.	1109;1108	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	A	1108;1108;1109	ENSP00000426387:T1108A;ENSP00000406955:T1108A;ENSP00000372635:T1109A	.	T	+	1	0	ZBTB38	142647242	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.164000	0.71885	2.217000	0.71921	0.533000	0.62120	ACC		0.458	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			G	141164552	A	G	141164552	3	3	310	1	0	0	0	0	1	0	0	0	17544	159	6	3	3324	3	ZBTB38	3	141164552	Missense_Mutation	SNP	A	TCGA-BP-4160-01A-02D-1366-10	7517065	141164552	56857878	10	18565											
PIK3CA	5290	hgsc.bcm.edu;ucsc.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936091	G	A	178936091	3	1	310	1	0	0	0	0	1	0	0	0	11915	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10	37771539	178936091	19086339	11	18566											
TET2	54790	hgsc.bcm.edu;ucsc.edu	37	4	106196809	106196809	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr4:106196809T>G	ENST00000540549.1	+	11	6002	c.5142T>G	c.(5140-5142)aaT>aaG	p.N1714K	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.N1735K|TET2_ENST00000380013.4_Missense_Mutation_p.N1714K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1714					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTAGACCAAATGTACATCATG	0.423			"Mis N, F"		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													122	102	108					4																	106196809		692	1591	2283	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.5142T>G	4.37:g.106196809T>G	ENSP00000442788:p.Asn1714Lys		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	6.920	0.539387	0.13250	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.02498	4.27;4.27;4.27	5.16	-1.56	0.08532	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.04634	0.0126	M	0.68317	2.08	0.09310	N	1	P;P	0.39717	0.684;0.491	B;B	0.41036	0.346;0.197	T	0.34850	-0.9812	9	0.27785	T	0.31	-2.9779	9.3639	0.38212	0.0:0.3678:0.0:0.6322	.	1735;1714	E7EQS8;Q6N021	.;TET2_HUMAN	K	1714;1735;1714	ENSP00000442788:N1714K;ENSP00000425443:N1735K;ENSP00000369351:N1714K	ENSP00000369351:N1714K	N	+	3	2	TET2	106416258	0.027000	0.19231	0.000000	0.03702	0.112000	0.19704	-0.198000	0.09505	-0.210000	0.10140	-0.456000	0.05471	AAT		0.423	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		G	106196809	T	G	106196809	3	3	310	1	0	0	0	0	1	0	0	0	15775	1461	51	5	5265	5	TET2	4	106196809	Missense_Mutation	SNP	T	TCGA-BP-4160-01A-02D-1366-10		106196809	84957467	12	18567											
DKK2	27123	hgsc.bcm.edu	37	4	107846995	107846995	+	Silent	SNP	G	G	T	rs528677483		TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr4:107846995G>T	ENST00000285311.3	-	2	1039	c.334C>A	c.(334-336)Cga>Aga	p.R112R	DKK2_ENST00000510463.1_Silent_p.R66R|DKK2_ENST00000513208.1_Silent_p.R12R	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	112	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R112*(1)|p.R112G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGCCATCTCGGTGGCAGCGC	0.493																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	ovary(1)|lung(1)											177	162	167					4																	107846995		2203	4300	6503	SO:0001819	synonymous_variant	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.334C>A	4.37:g.107846995G>T			A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	ENST00000285311.3	37	CCDS3675.1																																																																																				0.493	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			T	107846995	G	T	107846995	2	4	310	1	0	0	0	0	0	0	0	1	4547	1124	39	4		4	DKK2	4	107846995	Silent	SNP	G	TCGA-BP-4160-01A-02D-1366-10	1650186	107846995	83307281	13	18568											
NAA15	80155	hgsc.bcm.edu	37	4	140280992	140280992	+	Silent	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr4:140280992C>T	ENST00000296543.5	+	12	1676	c.1353C>T	c.(1351-1353)taC>taT	p.Y451Y	NAA15_ENST00000398947.1_Silent_p.Y451Y	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	451					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.Y451*(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTGCAAAATACATGCTAAAAG	0.388																																																1	Substitution - Nonsense(1)	ovary(1)											91	87	88					4																	140280992		1917	4158	6075	SO:0001819	synonymous_variant	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1353C>T	4.37:g.140280992C>T			D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	CCDS43270.1																																																																																				0.388	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		T	140280992	C	T	140280992	2	4	310	1	0	0	0	0	0	0	0	1	10120	489	17	2		2	NAA15	4	140280992	Silent	SNP	C	TCGA-BP-4160-01A-02D-1366-10	32433997	140280992	50873284	14	18569											
NAIP	4671	hgsc.bcm.edu	37	5	70308462	70308462	+	Missense_Mutation	SNP	C	C	A	rs147757754		TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr5:70308462C>A	ENST00000517649.1	-	4	571	c.281G>T	c.(280-282)gGg>gTg	p.G94V	NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.G94V|NAIP_ENST00000194097.4_Missense_Mutation_p.G94V	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	94					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)	p.G94E(1)|p.G94A(1)		central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCACTGAATCCCAGATTTTAC	0.493																																																2	Substitution - Missense(2)	lung(1)|skin(1)											80	73	75					5																	70308462		2202	4296	6498	SO:0001583	missense	4671			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.281G>T	5.37:g.70308462C>A	ENSP00000428657:p.Gly94Val		B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	c	8.921	0.961070	0.18583	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.71579	-0.58;-0.58;-0.58	3.26	2.33	0.28932	Baculoviral inhibition of apoptosis protein repeat (5);	0.515035	0.15663	U	0.250792	T	0.69314	0.3097	N	0.13272	0.32	0.18873	N	0.999989	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.971	T	0.60110	-0.7327	10	0.37606	T	0.19	.	11.0163	0.47691	0.0:0.6375:0.3625:0.0	.	94;94	E7EQW0;Q13075	.;BIRC1_HUMAN	V	94	ENSP00000428657:G94V;ENSP00000443944:G94V;ENSP00000429545:G94V	ENSP00000443944:G94V	G	-	2	0	NAIP	70344218	0.001000	0.12720	0.028000	0.17463	0.087000	0.18053	0.838000	0.27572	0.870000	0.35726	0.436000	0.28706	GGG		0.493	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		A	70308462	C	A	70308462	3	1	310	1	0	0	0	0	1	0	0	0	10149	623	22	4	3986	4	NAIP	5	70308462	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10		70308462	110606798	15	18570											
F2RL1	2150	hgsc.bcm.edu	37	5	76129109	76129109	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr5:76129109G>T	ENST00000296677.4	+	2	883	c.677G>T	c.(676-678)tGt>tTt	p.C226F		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	226					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.C226S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		ATCACGACCTGTCATGATGTT	0.512																																																1	Substitution - Missense(1)	central_nervous_system(1)											109	95	100					5																	76129109		2203	4300	6503	SO:0001583	missense	2150			BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.677G>T	5.37:g.76129109G>T	ENSP00000296677:p.Cys226Phe		Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383439	0.82792	.	.	ENSG00000164251	ENST00000296677	T	0.62639	0.01	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90337	0.4356	9	.	.	.	-22.8925	19.9067	0.97010	0.0:0.0:1.0:0.0	.	226	P55085	PAR2_HUMAN	F	226	ENSP00000296677:C226F	.	C	+	2	0	F2RL1	76164865	1.000000	0.71417	0.996000	0.52242	0.920000	0.55202	9.808000	0.99193	2.703000	0.92315	0.655000	0.94253	TGT		0.512	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			T	76129109	G	T	76129109	3	4	310	1	0	0	0	0	1	0	0	0	5346	1377	48	4	683	4	F2RL1	5	76129109	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10	5820647	76129109	104786151	16	18571											
CSF1R	1436	hgsc.bcm.edu	37	5	149436911	149436911	+	Missense_Mutation	SNP	C	C	A	rs560352241	byFrequency	TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr5:149436911C>A	ENST00000286301.3	-	17	2549	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	753	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.R753Q(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AAGCAGGTCCCGGAGCTCCAG	0.647																																																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											55	47	50					5																	149436911		2203	4300	6503	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2258G>T	5.37:g.149436911C>A	ENSP00000286301:p.Arg753Leu		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	0.398	-0.919796	0.02396	.	.	ENSG00000182578	ENST00000286301	D	0.82526	-1.62	5.42	1.66	0.24008	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.175670	0.06268	N	0.695160	T	0.67674	0.2918	N	0.17379	0.485	0.18873	N	0.999987	B	0.22746	0.074	B	0.23419	0.046	T	0.52185	-0.8609	10	0.10902	T	0.67	.	5.1848	0.15178	0.0:0.3747:0.1596:0.4657	.	753	P07333	CSF1R_HUMAN	L	753	ENSP00000286301:R753L	ENSP00000286301:R753L	R	-	2	0	CSF1R	149417104	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	1.117000	0.31234	0.275000	0.22094	-0.258000	0.10820	CGG		0.647	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		A	149436911	C	A	149436911	3	1	310	1	0	0	0	0	1	0	0	0	3934	652	23	4	684	4	CSF1R	5	149436911	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10	73307802	149436911	31478349	17	18572											
CFB	629	hgsc.bcm.edu	37	6	31915778	31915778	+	Missense_Mutation	SNP	C	C	A	rs535291979		TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr6:31915778C>A	ENST00000425368.2	+	6	1330	c.817C>A	c.(817-819)Ctg>Atg	p.L273M	CFB_ENST00000556679.1_Missense_Mutation_p.L775M|CFB_ENST00000456570.1_Missense_Mutation_p.L775M|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.L624M	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	273	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAACATCTACCTGGTGCTAGA	0.517																																																0													110	114	113					6																	31915778		2203	4300	6503	SO:0001583	missense	629			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.817C>A	6.37:g.31915778C>A	ENSP00000416561:p.Leu273Met		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244179	0.59103	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.14	2.28	0.28536	von Willebrand factor, type A (3);	0.542686	0.15485	N	0.259883	T	0.72630	0.3484	L	0.49350	1.555	0.31875	N	0.619229	D;B;P	0.53312	0.959;0.042;0.583	P;B;B	0.52267	0.694;0.146;0.19	T	0.67511	-0.5652	10	0.48119	T	0.1	-5.9482	12.2031	0.54337	0.5977:0.4023:0.0:0.0	.	775;273;273	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	M	775;273;775;624	ENSP00000451848:L775M;ENSP00000416561:L273M;ENSP00000410815:L775M;ENSP00000418996:L624M	ENSP00000416561:L273M	L	+	1	2	CFB;XXbac-BPG116M5.17	32023757	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	0.001000	0.13038	0.291000	0.22468	0.561000	0.74099	CTG		0.517	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		A	31915778	C	A	31915778	3	1	310	1	0	0	0	0	1	0	0	0	3280	680	24	4	839	4	CFB	6	31915778	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10		31915778	139199289	18	18573											
CDK19	23097	hgsc.bcm.edu	37	6	111136336	111136336	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr6:111136336C>A	ENST00000368911.3	-	1	183	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	CDK19_ENST00000323817.3_Intron|CDK19_ENST00000497709.1_Intron	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	2							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.D2N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						AAATCATAATCCATTGTCTGC	0.647																																																1	Substitution - Missense(1)	ovary(1)											72	71	71					6																	111136336		2203	4300	6503	SO:0001583	missense	23097			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.4G>T	6.37:g.111136336C>A	ENSP00000357907:p.Asp2Tyr		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502754	0.85176	.	.	ENSG00000155111	ENST00000368911	T	0.65364	-0.15	3.41	3.41	0.39046	.	0.130621	0.48286	D	0.000192	T	0.74642	0.3743	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.80167	-0.1495	10	0.87932	D	0	-13.0957	14.135	0.65281	0.0:1.0:0.0:0.0	.	2	Q9BWU1	CDK19_HUMAN	Y	2	ENSP00000357907:D2Y	ENSP00000357907:D2Y	D	-	1	0	CDK19	111243029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.570000	0.73996	1.909000	0.55274	0.550000	0.68814	GAT		0.647	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		A	111136336	C	A	111136336	3	1	310	1	0	0	0	0	1	0	0	0	3137	855	30	4	1556	4	CDK19	6	111136336	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10	79220558	111136336	59978731	19	18574											
PTCD1	26024	hgsc.bcm.edu;ucsc.edu	37	7	99017741	99017741	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr7:99017741A>G	ENST00000292478.4	-	8	2202	c.1952T>C	c.(1951-1953)aTt>aCt	p.I651T	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.I700T|PTCD1_ENST00000555673.1_Missense_Mutation_p.I700T	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	651					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAAGCCGTCAATCTTCTCCAG	0.547																																																0													108	115	113					7																	99017741		2203	4300	6503	SO:0001583	missense	100526740			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1952T>C	7.37:g.99017741A>G	ENSP00000292478:p.Ile651Thr		Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227565	0.79576	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.69435	-0.4;-0.36;-0.36	5.82	4.68	0.58851	.	0.101095	0.64402	D	0.000003	T	0.78065	0.4225	M	0.70595	2.14	0.49213	D	0.999768	D;D	0.76494	0.999;0.997	D;P	0.67382	0.951;0.88	T	0.80103	-0.1522	10	0.66056	D	0.02	-17.7665	11.2922	0.49256	0.9293:0.0:0.0707:0.0	.	700;651	G3V325;O75127	.;PTCD1_HUMAN	T	651;433;700;700	ENSP00000292478:I651T;ENSP00000450995:I700T;ENSP00000400168:I700T	ENSP00000400168:I700T	I	-	2	0	ATP5J2-PTCD1;PTCD1	98855677	1.000000	0.71417	0.978000	0.43139	0.887000	0.51463	7.171000	0.77595	2.215000	0.71742	0.459000	0.35465	ATT		0.547	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		G	99017741	A	G	99017741	3	3	310	1	0	0	0	0	1	0	0	0	12732	101	4	3	154	3	PTCD1	7	99017741	Missense_Mutation	SNP	A	TCGA-BP-4160-01A-02D-1366-10		99017741	60120922	20	18575											
CDHR3	222256	hgsc.bcm.edu;ucsc.edu	37	7	105656408	105656408	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr7:105656408A>G	ENST00000317716.9	+	11	1443	c.1363A>G	c.(1363-1365)Aat>Gat	p.N455D	CDHR3_ENST00000343407.5_Missense_Mutation_p.N174D|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.N455D|CDHR3_ENST00000478080.1_Missense_Mutation_p.N367D	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	455	Cadherin 4. {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(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AAGCCCAGAAAATGAGTTTCC	0.358																																																0													104	98	100					7																	105656408		1840	4094	5934	SO:0001583	missense	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1363A>G	7.37:g.105656408A>G	ENSP00000325954:p.Asn455Asp		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269840	0.80469	.	.	ENSG00000128536	ENST00000542731;ENST00000343407;ENST00000317716;ENST00000478080;ENST00000466045	T;T;T;T;T	0.69040	-0.35;0.4;-0.37;-0.17;-0.17	5.46	4.31	0.51392	Cadherin (3);Cadherin-like (1);	0.070003	0.64402	N	0.000019	T	0.80401	0.4616	M	0.78049	2.395	0.34776	D	0.734225	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.996;0.996	D	0.86236	0.1640	10	0.87932	D	0	-27.3915	11.1833	0.48642	0.928:0.0:0.072:0.0	.	172;442;455;367	Q6ZTQ4-2;B3KYA0;Q6ZTQ4;B7Z8X2	.;.;CDHR3_HUMAN;.	D	455;174;455;367;213	ENSP00000439766:N455D;ENSP00000341510:N174D;ENSP00000325954:N455D;ENSP00000417771:N367D;ENSP00000419017:N213D	ENSP00000325954:N455D	N	+	1	0	CDHR3	105443644	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.450000	0.52957	0.919000	0.36945	0.533000	0.62120	AAT		0.358	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		G	105656408	A	G	105656408	3	3	310	1	0	0	0	0	1	0	0	0	3122	14	1	3	1405	3	CDHR3	7	105656408	Missense_Mutation	SNP	A	TCGA-BP-4160-01A-02D-1366-10	6638667	105656408	53482255	21	18576											
TRPV5	56302	hgsc.bcm.edu;ucsc.edu	37	7	142609797	142609797	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr7:142609797A>G	ENST00000265310.1	-	13	1987	c.1639T>C	c.(1639-1641)Tac>Cac	p.Y547H		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	547					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCACGTCGTAGTTGGCAGGT	0.507																																																0													214	178	190					7																	142609797		2203	4300	6503	SO:0001583	missense	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1639T>C	7.37:g.142609797A>G	ENSP00000265310:p.Tyr547His		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509049	0.27036	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.75477	-0.94;-0.94	5.79	5.79	0.91817	Ion transport (1);	0.120824	0.56097	D	0.000022	D	0.82504	0.5051	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79381	-0.1827	10	0.24483	T	0.36	-9.3491	15.6042	0.76649	1.0:0.0:0.0:0.0	.	547	Q9NQA5	TRPV5_HUMAN	H	547;492	ENSP00000265310:Y547H;ENSP00000406361:Y492H	ENSP00000265310:Y547H	Y	-	1	0	TRPV5	142319919	1.000000	0.71417	0.993000	0.49108	0.159000	0.22180	5.699000	0.68310	2.338000	0.79540	0.533000	0.62120	TAC		0.507	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		G	142609797	A	G	142609797	3	3	310	1	0	0	0	0	1	0	0	0	16604	420	15	3	562	3	TRPV5	7	142609797	Missense_Mutation	SNP	A	TCGA-BP-4160-01A-02D-1366-10	36953389	142609797	16528866	22	18577											
EPHA1	2041	hgsc.bcm.edu	37	7	143094667	143094667	+	Missense_Mutation	SNP	C	C	T	rs555414886		TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr7:143094667C>T	ENST00000275815.3	-	9	1785	c.1699G>A	c.(1699-1701)Gtt>Att	p.V567I		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	567					activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.V567I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GACCGGAAAACGAGAATCCCA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17086	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)											81	78	79					7																	143094667		2203	4300	6503	SO:0001583	missense	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1699G>A	7.37:g.143094667C>T	ENSP00000275815:p.Val567Ile		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.299078	0.01364	.	.	ENSG00000146904	ENST00000275815	T	0.09538	2.97	5.72	-4.79	0.03200	.	1.179830	0.06167	N	0.676995	T	0.03477	0.0100	N	0.10916	0.065	0.09310	N	0.999999	B	0.09022	0.002	B	0.01281	0.0	T	0.39643	-0.9604	10	0.06236	T	0.91	.	1.2298	0.01941	0.3618:0.1989:0.0893:0.35	.	567	P21709	EPHA1_HUMAN	I	567	ENSP00000275815:V567I	ENSP00000275815:V567I	V	-	1	0	EPHA1	142804789	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-1.724000	0.01865	-1.007000	0.03408	0.655000	0.94253	GTT		0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			T	143094667	C	T	143094667	3	4	310	1	0	0	0	0	1	0	0	0	5167	536	19	1	1271	1	EPHA1	7	143094667	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10	484870	143094667	16043996	23	18578											
ARFGEF1	10565	hgsc.bcm.edu;ucsc.edu	37	8	68111228	68111228	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr8:68111228C>T	ENST00000262215.3	-	39	5880	c.5491G>A	c.(5491-5493)Gga>Aga	p.G1831R	ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1831					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.G1831R(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAAACTACTCCGATTCGCAGA	0.373																																																1	Substitution - Missense(1)	large_intestine(1)											145	136	139					8																	68111228		2203	4300	6503	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5491G>A	8.37:g.68111228C>T	ENSP00000262215:p.Gly1831Arg		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436273	0.83885	.	.	ENSG00000066777	ENST00000262215	T	0.34275	1.37	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.82823	2.61	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.59546	0.859;0.852	T	0.67654	-0.5615	10	0.87932	D	0	.	19.0957	0.93249	0.0:1.0:0.0:0.0	.	1831;655	Q9Y6D6;B3KMS9	BIG1_HUMAN;.	R	1831	ENSP00000262215:G1831R	ENSP00000262215:G1831R	G	-	1	0	ARFGEF1	68273782	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.776000	0.85560	2.672000	0.90937	0.650000	0.86243	GGA		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		T	68111228	C	T	68111228	3	4	310	1	0	0	0	0	1	0	0	0	852	661	23	1	62	1	ARFGEF1	8	68111228	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10		68111228	78252794	24	18579											
PABPC1	26986	hgsc.bcm.edu	37	8	101721692	101721692	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr8:101721692G>A	ENST00000318607.5	-	8	2368	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.P382S|PABPC1_ENST00000519004.1_Missense_Mutation_p.P369S	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	414					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CCTACCTGTGGGATAGCTGCC	0.473																																																0													93	84	87					8																	101721692		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1240C>T	8.37:g.101721692G>A	ENSP00000313007:p.Pro414Ser		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.40|17.40	3.380402|3.380402	0.61845|0.61845	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519596|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|T;T;T	.|0.35421	.|1.4;1.31;2.3	5.37|5.37	4.49|4.49	0.54785|0.54785	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000004|0.000004	T|T	0.47097|0.47097	0.1427|0.1427	M|M	0.86343|0.86343	2.81|2.81	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.17667	.|0.002;0.023;0.012	.|B;B;B	.|0.23275	.|0.045;0.045;0.014	T|T	0.52902|0.52902	-0.8513|-0.8513	6|10	.|0.72032	.|D	.|0.01	.|.	14.1037|14.1037	0.65075|0.65075	0.0725:0.0:0.9275:0.0|0.0725:0.0:0.9275:0.0	.|.	.|382;414;414	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	L|S	246|414;414;369;382	.|ENSP00000313007:P414S;ENSP00000429594:P369S;ENSP00000429395:P382S	.|ENSP00000313007:P414S	P|P	-|-	2|1	0|0	PABPC1|PABPC1	101790868|101790868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.831000|9.831000	0.99420|0.99420	1.395000|1.395000	0.46643|0.46643	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.473	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101721692	G	A	101721692	3	1	310	1	0	0	0	0	1	0	0	0	11365	1232	43	2	698	2	PABPC1	8	101721692	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10	33610464	101721692	44642330	25	18580											
JAK2	3717	hgsc.bcm.edu	37	9	5072516	5072516	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr9:5072516T>C	ENST00000381652.3	+	13	2160	c.1666T>C	c.(1666-1668)Ttt>Ctt	p.F556L	JAK2_ENST00000539801.1_Missense_Mutation_p.F556L|JAK2_ENST00000544510.1_Missense_Mutation_p.F407L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	556	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CCAAGGCACTTTTACAAAGAT	0.358		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	0													53	54	54					9																	5072516		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1666T>C	9.37:g.5072516T>C	ENSP00000371067:p.Phe556Leu		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867611	0.91587	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.89196	-2.48;-2.48;-2.48	5.73	5.73	0.89815	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96799	0.9588	10	0.45353	T	0.12	-18.4828	16.0085	0.80380	0.0:0.0:0.0:1.0	.	556	O60674	JAK2_HUMAN	L	556;556;407	ENSP00000440387:F556L;ENSP00000371067:F556L;ENSP00000443103:F407L	ENSP00000371067:F556L	F	+	1	0	JAK2	5062516	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.685000	0.84117	2.185000	0.69588	0.477000	0.44152	TTT		0.358	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			C	5072516	T	C	5072516	3	2	310	1	0	0	0	0	1	0	0	0	7940	1841	64	3	1708	3	JAK2	9	5072516	Missense_Mutation	SNP	T	TCGA-BP-4160-01A-02D-1366-10		5072516	136140915	26	18581			1	30		2	2	45	N	T_C	9.380392e-05
JAK2	3717	hgsc.bcm.edu	37	9	5072560	5072560	+	Silent	SNP	C	C	T	rs146433914	byFrequency	TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr9:5072560C>T	ENST00000381652.3	+	13	2204	c.1710C>T	c.(1708-1710)taC>taT	p.Y570Y	JAK2_ENST00000539801.1_Silent_p.Y570Y|JAK2_ENST00000544510.1_Silent_p.Y421Y	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	570	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.Y570Y(4)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TAGGAGACTACGGTCAACTGC	0.348		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				C|||	3	0.000599042	0.0	0.0029	5008	,	,		18072	0.0		0.001	False		,,,				2504	0.0						Dom	yes		9	9p24	3717	Janus kinase 2		L	4	Substitution - coding silent(4)	haematopoietic_and_lymphoid_tissue(4)						C		0,4406		0,0,2203	69	71	70		1710	0.8	1	9	dbSNP_134	70	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	JAK2	NM_004972.3		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		570/1133	5072560	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1710C>T	9.37:g.5072560C>T			O14636|O75297	Silent	SNP	ENST00000381652.3	37	CCDS6457.1																																																																																				0.348	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			T	5072560	C	T	5072560	2	4	310	1	0	0	0	0	0	0	0	1	7940	547	19	1		1	JAK2	9	5072560	Silent	SNP	C	TCGA-BP-4160-01A-02D-1366-10	44	5072560	136140871	27	18582			1	30		2	2	45	N	T_C	9.380392e-05
ADAMTSL1	92949	hgsc.bcm.edu	37	9	18906804	18906804	+	Silent	SNP	G	G	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr9:18906804G>A	ENST00000380548.4	+	28	5415	c.5076G>A	c.(5074-5076)gtG>gtA	p.V1692V	ADAMTSL1_ENST00000380545.5_Silent_p.V393V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1692	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCGGCGTGTGGAGTGTGTGC	0.632																																																0													54	69	64					9																	18906804		2135	4225	6360	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.5076G>A	9.37:g.18906804G>A			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	CCDS47954.1																																																																																				0.632	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			A	18906804	G	A	18906804	2	1	310	1	0	0	0	0	0	0	0	1	274	1335	47	2		2	ADAMTSL1	9	18906804	Silent	SNP	G	TCGA-BP-4160-01A-02D-1366-10	13834244	18906804	122306627	28	18583											
LRRC19	64922	hgsc.bcm.edu;ucsc.edu	37	9	26995607	26995607	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr9:26995607A>T	ENST00000380055.5	-	5	1135	c.1025T>A	c.(1024-1026)tTt>tAt	p.F342Y	IFT74_ENST00000429045.2_Intron|LRRC19_ENST00000482770.1_5'UTR|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	342						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		TAATTGTTCAAATATTACTGT	0.308																																																0													105	107	106					9																	26995607		2203	4300	6503	SO:0001583	missense	64922			AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.1025T>A	9.37:g.26995607A>T	ENSP00000369395:p.Phe342Tyr		A0AV00|B9EG91	Missense_Mutation	SNP	ENST00000380055.5	37	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119894	0.77323	.	.	ENSG00000184434	ENST00000380055	T	0.56103	0.48	5.55	5.55	0.83447	.	0.210963	0.37857	N	0.001904	T	0.42494	0.1205	L	0.29908	0.895	0.36349	D	0.859974	P	0.48503	0.911	B	0.42282	0.382	T	0.57579	-0.7787	10	0.87932	D	0	-18.1003	11.4539	0.50169	0.8653:0.0:0.0:0.1347	.	342	Q9H756	LRC19_HUMAN	Y	342	ENSP00000369395:F342Y	ENSP00000369395:F342Y	F	-	2	0	LRRC19	26985607	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.364000	0.44187	2.115000	0.64714	0.477000	0.44152	TTT		0.308	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		T	26995607	A	T	26995607	3	4	310	1	0	0	0	0	1	0	0	0	8977	14	1	5	91	5	LRRC19	9	26995607	Missense_Mutation	SNP	A	TCGA-BP-4160-01A-02D-1366-10	8088803	26995607	114217824	29	18584											
VCP	7415	hgsc.bcm.edu;ucsc.edu	37	9	35062023	35062023	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr9:35062023A>T	ENST00000358901.6	-	9	1953	c.1058T>A	c.(1057-1059)aTt>aAt	p.I353N		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	353					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGCTGGGTCAATGCTGTTGGG	0.502																																																0													271	192	218					9																	35062023		2203	4300	6503	SO:0001583	missense	7415			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1058T>A	9.37:g.35062023A>T	ENSP00000351777:p.Ile353Asn		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489989	0.84962	.	.	ENSG00000165280	ENST00000358901	D	0.94758	-3.51	6.17	6.17	0.99709	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99433	1.0936	10	0.87932	D	0	-41.7106	16.8222	0.85835	1.0:0.0:0.0:0.0	.	353	P55072	TERA_HUMAN	N	353	ENSP00000351777:I353N	ENSP00000351777:I353N	I	-	2	0	VCP	35052023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	ATT		0.502	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		T	35062023	A	T	35062023	3	4	310	1	0	0	0	0	1	0	0	0	17145	101	4	5	1398	5	VCP	9	35062023	Missense_Mutation	SNP	A	TCGA-BP-4160-01A-02D-1366-10	8066416	35062023	106151408	30	18585											
SLC28A3	64078	hgsc.bcm.edu	37	9	86894964	86894964	+	Missense_Mutation	SNP	C	C	G	rs11568398	byFrequency	TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr9:86894964C>G	ENST00000376238.4	-	16	1803	c.1754G>C	c.(1753-1755)cGt>cCt	p.R585P	SLC28A3_ENST00000537648.1_Missense_Mutation_p.R516P|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	585			R -> H (in dbSNP:rs11568398). {ECO:0000269|PubMed:15738947}.		pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GGCGATATCACGCTTTCTGGA	0.527																																					Ovarian(106;425 1539 34835 42413 43572)											0													70	54	60					9																	86894964		2203	4300	6503	SO:0001583	missense	64078			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1754G>C	9.37:g.86894964C>G	ENSP00000365413:p.Arg585Pro		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424007	0.25639	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.06371	3.31;3.31	6.03	-3.09	0.05331	Na dependent nucleoside transporter, C-terminal (1);	1.240630	0.05003	N	0.469367	T	0.04679	0.0127	N	0.11106	0.095	0.09310	N	1	B	0.10296	0.003	B	0.18561	0.022	T	0.44050	-0.9353	10	0.35671	T	0.21	1.854	13.7923	0.63148	0.0:0.3797:0.0:0.6203	.	585	Q9HAS3	S28A3_HUMAN	P	585;516	ENSP00000365413:R585P;ENSP00000446438:R516P	ENSP00000365413:R585P	R	-	2	0	SLC28A3	86084784	0.000000	0.05858	0.086000	0.20670	0.714000	0.41099	-1.301000	0.02749	-0.647000	0.05444	-1.038000	0.02383	CGT		0.527	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		G	86894964	C	G	86894964	3	3	310	1	0	0	0	0	1	0	0	0	14539	536	19	4	333	4	SLC28A3	9	86894964	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10	51832941	86894964	54318467	31	18586											
SFMBT2	57713	hgsc.bcm.edu	37	10	7239537	7239537	+	Silent	SNP	C	C	A	rs200717836		TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr10:7239537C>A	ENST00000361972.4	-	15	1761	c.1671G>T	c.(1669-1671)ccG>ccT	p.P557P	SFMBT2_ENST00000397167.1_Silent_p.P557P	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	557					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.P557P(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CGCATTTGCCCGGTCCCACCG	0.473																																																1	Substitution - coding silent(1)	ovary(1)						C	,	0,4406		0,0,2203	114	108	110		1671,1671	-9.3	0.9	10		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SFMBT2	NM_001018039.1,NM_001029880.2	,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,	557/895,557/895	7239537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1671G>T	10.37:g.7239537C>A			A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																				0.473	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		A	7239537	C	A	7239537	2	1	310	1	0	0	0	0	0	0	0	1	14164	639	23	4		4	SFMBT2	10	7239537	Silent	SNP	C	TCGA-BP-4160-01A-02D-1366-10		7239537	128295210	32	18587											
A1CF	29974	hgsc.bcm.edu	37	10	52575931	52575931	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr10:52575931C>A	ENST00000373993.1	-	7	1020	c.976G>T	c.(976-978)Gag>Tag	p.E326*	ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Nonsense_Mutation_p.E326*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Nonsense_Mutation_p.E326*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.E334*|A1CF_ENST00000374001.2_Nonsense_Mutation_p.E326*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.E271*|A1CF_ENST00000395489.2_Nonsense_Mutation_p.E319*			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	326					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.E326K(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TAGGTATACTCTCCTTGCAGC	0.517																																																1	Substitution - Missense(1)	central_nervous_system(1)											187	178	181					10																	52575931		2203	4300	6503	SO:0001587	stop_gained	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.976G>T	10.37:g.52575931C>A	ENSP00000363105:p.Glu326*		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Nonsense_Mutation	SNP	ENST00000373993.1	37	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	37	5.981570	0.97168	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	.	.	.	5.69	5.69	0.88448	.	0.258209	0.43579	D	0.000558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	17.2909	0.87156	0.0:1.0:0.0:0.0	.	.	.	.	X	326;326;326;334;326;271;309;319	.	ENSP00000282641:E326X	E	-	1	0	A1CF	52245937	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	7.448000	0.80631	2.690000	0.91761	0.650000	0.86243	GAG		0.517	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		A	52575931	C	A	52575931	4	1	310	1	0	0	0	0	0	1	0	0	2	922	32	4	828	4	A1CF	10	52575931	Nonsense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10	45336394	52575931	82958816	33	18588											
SUFU	51684	hgsc.bcm.edu	37	10	104352445	104352445	+	Silent	SNP	C	C	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr10:104352445C>A	ENST00000369902.3	+	4	727	c.561C>A	c.(559-561)ccC>ccA	p.P187P	RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.P187P|SUFU_ENST00000423559.2_Silent_p.P187P	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	187					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		AGATGCAGCCCGTGCAGACAC	0.577			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													121	103	109					10																	104352445		2203	4300	6503	SO:0001819	synonymous_variant	51684	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.561C>A	10.37:g.104352445C>A			Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	CCDS7537.1																																																																																				0.577	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		A	104352445	C	A	104352445	2	1	310	1	0	0	0	0	0	0	0	1	15373	639	23	4		4	SUFU	10	104352445	Silent	SNP	C	TCGA-BP-4160-01A-02D-1366-10	51776514	104352445	31182302	34	18589											
MTCH2	23788	hgsc.bcm.edu	37	11	47644274	47644274	+	Silent	SNP	A	A	G			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr11:47644274A>G	ENST00000302503.3	-	12	961	c.804T>C	c.(802-804)tgT>tgC	p.C268C	MTCH2_ENST00000542981.1_Silent_p.C120C|MTCH2_ENST00000534074.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	268					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCATGCACCAACAGTCTATCC	0.313																																																0													75	71	72					11																	47644274		2201	4298	6499	SO:0001819	synonymous_variant	23788			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.804T>C	11.37:g.47644274A>G			B2R7L8	Silent	SNP	ENST00000302503.3	37	CCDS7943.1																																																																																				0.313	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		G	47644274	A	G	47644274	2	3	310	1	0	0	0	0	0	0	0	1	9916	41	2	3		3	MTCH2	11	47644274	Silent	SNP	A	TCGA-BP-4160-01A-02D-1366-10		47644274	87362242	35	18590											
SCYL1	57410	hgsc.bcm.edu	37	11	65303520	65303520	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr11:65303520C>T	ENST00000270176.5	+	11	1560	c.1483C>T	c.(1483-1485)Cac>Tac	p.H495Y	SCYL1_ENST00000420247.2_Missense_Mutation_p.H495Y|SCYL1_ENST00000527009.1_Missense_Mutation_p.H352Y|SCYL1_ENST00000524944.1_Missense_Mutation_p.H495Y|SCYL1_ENST00000525364.1_Missense_Mutation_p.H495Y|SCYL1_ENST00000533862.1_Missense_Mutation_p.H495Y|SCYL1_ENST00000279270.6_Missense_Mutation_p.H495Y	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	495			H -> Y (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)	p.H495Y(1)		ovary(1)|skin(1)	2						TGCTGCCACCCACAACCTCTA	0.592																																																1	Substitution - Missense(1)	skin(1)											89	91	90					11																	65303520		1980	4152	6132	SO:0001583	missense	57410			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1483C>T	11.37:g.65303520C>T	ENSP00000270176:p.His495Tyr		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335543	0.24253	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.104625	0.64402	D	0.000005	T	0.45915	0.1366	L	0.56769	1.78	0.80722	D	1	B;D;B;B;P	0.57571	0.038;0.98;0.232;0.232;0.928	B;P;B;B;P	0.54706	0.085;0.759;0.113;0.113;0.579	T	0.33369	-0.9871	10	0.49607	T	0.09	-11.242	16.7806	0.85562	0.0:1.0:0.0:0.0	.	495;495;495;495;495	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	Y	495;495;495;495;495;495;495;495;352	ENSP00000270176:H495Y;ENSP00000431635:H495Y;ENSP00000408192:H495Y;ENSP00000437254:H495Y;ENSP00000433450:H495Y;ENSP00000279270:H495Y;ENSP00000432175:H495Y;ENSP00000436993:H352Y	ENSP00000270176:H495Y	H	+	1	0	SCYL1	65060096	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.079000	0.64431	2.577000	0.86979	0.462000	0.41574	CAC		0.592	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		T	65303520	C	T	65303520	3	4	310	1	0	0	0	0	1	0	0	0	13953	594	21	2	1525	2	SCYL1	11	65303520	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10	17659246	65303520	69702996	36	18591											
ITPR2	3709	hgsc.bcm.edu	37	12	26784955	26784955	+	Silent	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr12:26784955C>T	ENST00000381340.3	-	22	3194	c.2778G>A	c.(2776-2778)gaG>gaA	p.E926E	ITPR2_ENST00000545902.1_5'Flank|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	926					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.E926E(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGGTCATCATCTCTCCCACCC	0.527																																																1	Substitution - coding silent(1)	kidney(1)											114	118	116					12																	26784955		2066	4206	6272	SO:0001819	synonymous_variant	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2778G>A	12.37:g.26784955C>T			O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																				0.527	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		T	26784955	C	T	26784955	2	4	310	1	0	0	0	0	0	0	0	1	7923	912	32	2		2	ITPR2	12	26784955	Silent	SNP	C	TCGA-BP-4160-01A-02D-1366-10		26784955	107066940	37	18592											
BICD1	636	hgsc.bcm.edu	37	12	32481360	32481360	+	Silent	SNP	G	G	C			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr12:32481360G>C	ENST00000281474.5	+	5	2074	c.1971G>C	c.(1969-1971)cgG>cgC	p.R657R	BICD1_ENST00000548411.1_Silent_p.R657R	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	657					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CAGCGGCTCGGGAGCTAGCCC	0.502																																																0													68	72	71					12																	32481360		2203	4300	6503	SO:0001819	synonymous_variant	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1971G>C	12.37:g.32481360G>C			A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	CCDS8726.1																																																																																				0.502	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		C	32481360	G	C	32481360	2	2	310	1	0	0	0	0	0	0	0	1	1428	1219	43	4		4	BICD1	12	32481360	Silent	SNP	G	TCGA-BP-4160-01A-02D-1366-10	5696405	32481360	101370535	38	18593											
FLT1	2321	hgsc.bcm.edu	37	13	28919683	28919683	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr13:28919683A>G	ENST00000282397.4	-	16	2505	c.2254T>C	c.(2254-2256)Tcg>Ccg	p.S752P	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	752					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|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 phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACTTGTCCGAGGTTCCTGGA	0.408																																																0													50	50	50					13																	28919683		2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2254T>C	13.37:g.28919683A>G	ENSP00000282397:p.Ser752Pro		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.379930	0.24944	.	.	ENSG00000102755	ENST00000282397	T	0.75821	-0.97	5.52	3.08	0.35506	.	0.593958	0.17196	N	0.183329	T	0.56572	0.1994	N	0.22421	0.69	0.09310	N	1	B	0.16166	0.016	B	0.13407	0.009	T	0.39961	-0.9588	10	0.24483	T	0.36	.	7.9166	0.29822	0.5338:0.3952:0.071:0.0	.	752	P17948	VGFR1_HUMAN	P	752	ENSP00000282397:S752P	ENSP00000282397:S752P	S	-	1	0	FLT1	27817683	0.001000	0.12720	0.999000	0.59377	0.887000	0.51463	0.203000	0.17315	0.900000	0.36469	0.454000	0.30748	TCG		0.408	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			G	28919683	A	G	28919683	3	3	310	1	0	0	0	0	1	0	0	0	5943	304	11	3	1822	3	FLT1	13	28919683	Missense_Mutation	SNP	A	TCGA-BP-4160-01A-02D-1366-10		28919683	86250195	39	18594											
NALCN	259232	hgsc.bcm.edu	37	13	101714442	101714442	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr13:101714442G>A	ENST00000251127.6	-	41	4714	c.4633C>T	c.(4633-4635)Cgg>Tgg	p.R1545W	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1545					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R1545W(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGCTCTTCCGGATGTCCACG	0.537																																																1	Substitution - Missense(1)	ovary(1)											84	64	71					13																	101714442		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4633C>T	13.37:g.101714442G>A	ENSP00000251127:p.Arg1545Trp		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058340	0.76074	.	.	ENSG00000102452	ENST00000251127	D	0.98012	-4.66	5.82	2.79	0.32731	.	0.000000	0.85682	D	0.000000	D	0.97895	0.9308	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.98276	1.0506	10	0.87932	D	0	.	13.6106	0.62076	0.0:0.0:0.4732:0.5268	.	1545	Q8IZF0	NALCN_HUMAN	W	1545	ENSP00000251127:R1545W	ENSP00000251127:R1545W	R	-	1	2	NALCN	100512443	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.261000	0.43276	1.407000	0.46875	0.650000	0.86243	CGG		0.537	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	101714442	G	A	101714442	3	1	310	1	0	0	0	0	1	0	0	0	10150	1115	39	1	599	1	NALCN	13	101714442	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10	72794759	101714442	13455436	40	18595											
FAM161B	145483	hgsc.bcm.edu	37	14	74411261	74411261	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr14:74411261C>T	ENST00000534936.1	-	3	807	c.702G>A	c.(700-702)atG>atA	p.M234I	FAM161B_ENST00000286544.3_Missense_Mutation_p.M297I			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	234										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CGCTGCGCTCCATGATCTCTT	0.617																																																0													50	51	50					14																	74411261		2203	4300	6503	SO:0001583	missense	145483			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.702G>A	14.37:g.74411261C>T	ENSP00000445326:p.Met234Ile		B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37		.	.	.	.	.	.	.	.	.	.	C	19.43	3.825375	0.71143	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.24151	1.87;1.87	5.26	5.26	0.73747	.	0.418350	0.24859	N	0.035038	T	0.29061	0.0722	L	0.58669	1.825	0.58432	D	0.999996	P	0.34462	0.454	B	0.31016	0.123	T	0.05007	-1.0912	10	0.40728	T	0.16	-1.2262	19.0716	0.93140	0.0:1.0:0.0:0.0	.	234	Q96MY7	F161B_HUMAN	I	297;234	ENSP00000286544:M297I;ENSP00000445326:M234I	ENSP00000286544:M297I	M	-	3	0	FAM161B	73481014	0.973000	0.33851	1.000000	0.80357	0.977000	0.68977	0.924000	0.28777	2.735000	0.93741	0.563000	0.77884	ATG		0.617	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		T	74411261	C	T	74411261	3	4	310	1	0	0	0	0	1	0	0	0	5475	594	21	2	1269	2	FAM161B	14	74411261	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10		74411261	32938279	41	18596											
TRIP11	9321	hgsc.bcm.edu	37	14	92436049	92436049	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr14:92436049C>T	ENST00000267622.4	-	21	6281	c.5908G>A	c.(5908-5910)Ggg>Agg	p.G1970R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1970					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AGCACAACCCCAGCACTGTTG	0.438			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													73	77	76					14																	92436049		2203	4300	6503	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5908G>A	14.37:g.92436049C>T	ENSP00000267622:p.Gly1970Arg		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.33|17.33	3.362480|3.362480	0.61403|0.61403	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.20463|.	2.07|.	5.78|5.78	4.89|4.89	0.63831|0.63831	.|.	0.051564|.	0.85682|.	N|.	0.000000|.	T|.	0.73892|.	0.3645|.	M|M	0.74881|0.74881	2.28|2.28	0.54753|0.54753	D|D	0.999985|0.999985	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.986;0.999|.	T|.	0.74850|.	-0.3524|.	10|.	0.87932|.	D|.	0|.	.|.	14.7875|14.7875	0.69813|0.69813	0.0:0.9312:0.0:0.0688|0.0:0.9312:0.0:0.0688	.|.	1706;1970|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	R|X	1970;1706|1685	ENSP00000267622:G1970R|.	ENSP00000267622:G1970R|.	G|W	-|-	1|2	0|0	TRIP11|TRIP11	91505802|91505802	1.000000|1.000000	0.71417|0.71417	0.806000|0.806000	0.32338|0.32338	0.242000|0.242000	0.25591|0.25591	5.459000|5.459000	0.66685|0.66685	1.449000|1.449000	0.47699|0.47699	0.563000|0.563000	0.77884|0.77884	GGG|TGG		0.438	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			T	92436049	C	T	92436049	3	4	310	1	0	0	0	0	1	0	0	0	16560	594	21	2	35	2	TRIP11	14	92436049	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10	18024788	92436049	14913491	42	18597											
EIF5	1983	hgsc.bcm.edu	37	14	103803541	103803541	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr14:103803541C>A	ENST00000216554.3	+	6	1092	c.416C>A	c.(415-417)aCa>aAa	p.T139K	EIF5_ENST00000560200.1_3'UTR|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000558506.1_Missense_Mutation_p.T139K|EIF5_ENST00000392715.2_Missense_Mutation_p.T139K	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	139					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AAACTCTGCACATTCATTCTC	0.383																																																0													103	93	96					14																	103803541		2203	4300	6503	SO:0001583	missense	1983			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.416C>A	14.37:g.103803541C>A	ENSP00000216554:p.Thr139Lys		Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.564281	0.86335	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	D;D	0.84370	-1.84;-1.84	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.88153	0.6360	M	0.86178	2.8	0.80722	D	1	B	0.28208	0.203	B	0.24394	0.053	D	0.85626	0.1267	10	0.87932	D	0	-18.3161	20.8598	0.99761	0.0:1.0:0.0:0.0	.	139	P55010	IF5_HUMAN	K	139	ENSP00000216554:T139K;ENSP00000376477:T139K	ENSP00000216554:T139K	T	+	2	0	EIF5	102873294	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.436000	0.80404	2.937000	0.99478	0.650000	0.86243	ACA		0.383	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		A	103803541	C	A	103803541	3	1	310	1	0	0	0	0	1	0	0	0	5042	478	17	4	430	4	EIF5	14	103803541	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10	11367492	103803541	3545999	43	18598											
ATP8B4	79895	hgsc.bcm.edu;ucsc.edu	37	15	50215637	50215637	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr15:50215637A>T	ENST00000284509.6	-	17	1838	c.1697T>A	c.(1696-1698)cTg>cAg	p.L566Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.L566Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	566						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTTTCAAACAGAATAGTATC	0.388																																																0													78	72	74					15																	50215637		2196	4295	6491	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1697T>A	15.37:g.50215637A>T	ENSP00000284509:p.Leu566Gln		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463533	0.84425	.	.	ENSG00000104043	ENST00000284509	D	0.85258	-1.96	4.93	4.93	0.64822	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.272230	0.30076	N	0.010464	D	0.91429	0.7295	M	0.78456	2.415	0.45777	D	0.998669	D	0.61080	0.989	D	0.71184	0.972	D	0.92378	0.5911	10	0.87932	D	0	.	12.8303	0.57742	1.0:0.0:0.0:0.0	.	566	Q8TF62	AT8B4_HUMAN	Q	566	ENSP00000284509:L566Q	ENSP00000284509:L566Q	L	-	2	0	ATP8B4	48002929	0.976000	0.34144	1.000000	0.80357	0.995000	0.86356	9.037000	0.93765	1.979000	0.57680	0.533000	0.62120	CTG		0.388	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		T	50215637	A	T	50215637	3	4	310	1	0	0	0	0	1	0	0	0	1197	188	7	5	1929	5	ATP8B4	15	50215637	Missense_Mutation	SNP	A	TCGA-BP-4160-01A-02D-1366-10		50215637	52315755	44	18599											
HMG20A	10363	hgsc.bcm.edu	37	15	77756618	77756618	+	Silent	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr15:77756618C>T	ENST00000381714.3	+	4	554	c.126C>T	c.(124-126)gcC>gcT	p.A42A	HMG20A_ENST00000336216.4_Silent_p.A42A	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	42					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTAGTGGCGCCACATCATCCA	0.428																																																0													141	119	126					15																	77756618		2196	4294	6490	SO:0001819	synonymous_variant	10363			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.126C>T	15.37:g.77756618C>T			A6NHY3|D3DW78|Q53G31|Q9NSF6	Silent	SNP	ENST00000381714.3	37	CCDS10295.1																																																																																				0.428	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		T	77756618	C	T	77756618	2	4	310	1	0	0	0	0	0	0	0	1	7223	581	21	2		2	HMG20A	15	77756618	Silent	SNP	C	TCGA-BP-4160-01A-02D-1366-10	27540981	77756618	24774774	45	18600											
C17orf81	23587	hgsc.bcm.edu	37	17	7160242	7160242	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr17:7160242G>A	ENST00000396628.2	+	5	741	c.524G>A	c.(523-525)gGc>gAc	p.G175D	RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Missense_Mutation_p.G175D|ELP5_ENST00000574993.1_Missense_Mutation_p.G175D|ELP5_ENST00000396627.2_Missense_Mutation_p.G175D|ELP5_ENST00000356683.2_Missense_Mutation_p.G175D	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	175				G -> S (in Ref. 1; AAM10496). {ECO:0000305}.	chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											CATGGACCAGGCCCTGTGGGA	0.597																																																0													72	61	65					17																	7160242		2203	4300	6503	SO:0001583	missense	0			BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"Elongator acetyltransferase complex subunits"	30617	protein-coding gene	gene with protein product	"dermal papilla derived protein 6", "S-phase 2 protein"	615019	"chromosome 17 open reading frame 81"	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.524G>A	17.37:g.7160242G>A	ENSP00000379869:p.Gly175Asp		A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	37	CCDS11094.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712319	0.48517	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.54479	1.37;1.37;1.37;0.57	5.32	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.68952	2.095	0.50632	D	0.999886	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.74348	0.972;0.983;0.971	T	0.70923	-0.4740	10	0.62326	D	0.03	-23.0859	12.1862	0.54241	0.0:0.172:0.828:0.0	.	175;175;175	Q8TE02-2;A8K1M5;Q8TE02	.;.;DERP6_HUMAN	D	175	ENSP00000346412:G175D;ENSP00000379869:G175D;ENSP00000379868:G175D;ENSP00000349111:G175D	ENSP00000346412:G175D	G	+	2	0	C17orf81	7100966	0.990000	0.36364	0.999000	0.59377	0.342000	0.28953	2.840000	0.48215	1.353000	0.45828	0.655000	0.94253	GGC		0.597	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		A	7160242	G	A	7160242	3	1	310	1	0	0	0	0	1	0	0	0	1888	1203	42	2	542	2	C17orf81	17	7160242	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10		7160242	74034968	46	18601											
CWC25	54883	hgsc.bcm.edu	37	17	36959026	36959026	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr17:36959026T>C	ENST00000225428.5	-	9	1387	c.1090A>G	c.(1090-1092)Aag>Gag	p.K364E	PIP4K2B_ENST00000269554.3_5'Flank|CWC25_ENST00000536127.1_Missense_Mutation_p.K301E	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	364										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GCATGCCTCTTGAGGATGTTC	0.517																																																0													196	200	199					17																	36959026		2011	4177	6188	SO:0001583	missense	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1090A>G	17.37:g.36959026T>C	ENSP00000225428:p.Lys364Glu		A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321099	0.41096	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.71	2.18	0.27775	.	0.291903	0.42548	N	0.000688	T	0.48277	0.1491	M	0.63843	1.955	0.40942	D	0.984474	B;B	0.24258	0.1;0.1	B;B	0.23852	0.049;0.03	T	0.28586	-1.0039	9	0.21014	T	0.42	.	7.2386	0.26084	0.0:0.0726:0.2768:0.6505	.	301;364	B4DJK2;Q9NXE8	.;CWC25_HUMAN	E	364;301	.	ENSP00000225428:K364E	K	-	1	0	CWC25	34212552	0.990000	0.36364	0.773000	0.31616	0.423000	0.31445	0.705000	0.25675	0.086000	0.17137	0.533000	0.62120	AAG		0.517	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		C	36959026	T	C	36959026	3	2	310	1	0	0	0	0	1	0	0	0	4071	1821	63	3	195	3	CWC25	17	36959026	Missense_Mutation	SNP	T	TCGA-BP-4160-01A-02D-1366-10	29798784	36959026	44236184	47	18602											
BRCA1	672	hgsc.bcm.edu	37	17	41267787	41267787	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr17:41267787C>A	ENST00000357654.3	-	3	208	c.90G>T	c.(88-90)ttG>ttT	p.L30F	BRCA1_ENST00000346315.3_Missense_Mutation_p.L30F|BRCA1_ENST00000493795.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.L30F|BRCA1_ENST00000354071.3_Missense_Mutation_p.L30F|BRCA1_ENST00000468300.1_Missense_Mutation_p.L30F|BRCA1_ENST00000491747.2_Missense_Mutation_p.L30F|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.L30F|BRCA1_ENST00000471181.2_Missense_Mutation_p.L30F|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Intron|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	30			L -> F (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L30F(2)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTCCTTGATCAACTCCAGAC	0.343			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	2	Substitution - Missense(2)	breast(2)											54	49	50					17																	41267787		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.90G>T	17.37:g.41267787C>A	ENSP00000350283:p.Leu30Phe		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600248	0.66332	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000471181;ENST00000491747;ENST00000478531;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777;ENST00000489037	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T	0.95001	-2.18;-3.58;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;3.22	5.97	1.84	0.25277	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.40469	N	0.001081	D	0.94928	0.8360	L	0.48362	1.52	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	0.85130	0.997;0.997;0.995;0.995;0.997;0.997;0.99	D	0.93003	0.6425	10	0.87932	D	0	-5.6223	8.4708	0.32984	0.0:0.7072:0.0:0.2928	.	30;30;30;30;30;30;30	E7ETR2;E7EMP0;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398	.;.;.;.;.;.;BRCA1_HUMAN	F	30	ENSP00000350283:L30F;ENSP00000397145:L30F;ENSP00000326002:L30F;ENSP00000312236:L30F;ENSP00000246907:L30F;ENSP00000338007:L30F;ENSP00000417148:L30F;ENSP00000418960:L30F;ENSP00000420705:L30F;ENSP00000420412:L30F;ENSP00000419274:L30F;ENSP00000419988:L30F;ENSP00000419103:L30F;ENSP00000417554:L30F;ENSP00000420781:L30F	ENSP00000246907:L30F	L	-	3	2	BRCA1	38521313	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	1.682000	0.37628	0.143000	0.18926	-0.150000	0.13652	TTG		0.343	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		A	41267787	C	A	41267787	3	1	310	1	0	0	0	0	1	0	0	0	1500	825	29	4	5655	4	BRCA1	17	41267787	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10	4308761	41267787	39927423	48	18603											
ITGB3	3690	hgsc.bcm.edu	37	17	45369718	45369719	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr17:45369718_45369719insG	ENST00000559488.1	+	10	1490_1491	c.1474_1475insG	c.(1474-1476)tggfs	p.W492fs	ITGB3_ENST00000435993.2_Frame_Shift_Ins_p.W445fs|ITGB3_ENST00000560629.1_Frame_Shift_Ins_p.A481fs	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	492	Cysteine-rich tandem repeats.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TGGGCCTGGCTGGCTGGGATCC	0.624																																																0																																										SO:0001589	frameshift_variant	3690				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1476dupG	17.37:g.45369720_45369720dupG	ENSP00000452786:p.Trp492fs		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Frame_Shift_Ins	INS	ENST00000559488.1	37	CCDS11511.1																																																																																				0.624	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		G	45369719	-	G	45369718	7	5	310	1	0	1	1	0	0	0	0	0	7897	1580	55	0	1512	0	ITGB3	17	45369718	Frame_Shift_Ins	INS	-	TCGA-BP-4160-01A-02D-1366-10	4101931	45369718	35825492	49	18604											
COG1	9382	hgsc.bcm.edu	37	17	71196785	71196785	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr17:71196785A>G	ENST00000299886.4	+	6	1231	c.1151A>G	c.(1150-1152)gAc>gGc	p.D384G		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	384					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GGAATCCGGGACGCCATGTGG	0.498																																																0													112	105	107					17																	71196785		2203	4300	6503	SO:0001583	missense	9382				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1151A>G	17.37:g.71196785A>G	ENSP00000299886:p.Asp384Gly		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891741	0.33442	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.25912	1.77;1.77	5.53	5.53	0.82687	.	0.096908	0.64402	D	0.000002	T	0.51669	0.1688	M	0.77616	2.38	0.80722	D	1	D;P;D	0.89917	1.0;0.941;1.0	D;P;D	0.72338	0.977;0.505;0.977	T	0.51293	-0.8724	10	0.37606	T	0.19	-25.3942	15.6586	0.77162	1.0:0.0:0.0:0.0	.	384;384;384	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	G	384	ENSP00000400111:D384G;ENSP00000299886:D384G	ENSP00000299886:D384G	D	+	2	0	COG1	68708380	1.000000	0.71417	0.184000	0.23157	0.421000	0.31385	8.792000	0.91856	2.102000	0.63906	0.460000	0.39030	GAC		0.498	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			G	71196785	A	G	71196785	3	3	310	1	0	0	0	0	1	0	0	0	3659	275	10	3	1173	3	COG1	17	71196785	Missense_Mutation	SNP	A	TCGA-BP-4160-01A-02D-1366-10	25827067	71196785	9998425	50	18605											
PTPRM	5797	hgsc.bcm.edu	37	18	7955227	7955227	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr18:7955227G>A	ENST00000332175.8	+	7	1984	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	PTPRM_ENST00000580170.1_Missense_Mutation_p.R316Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.R254Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.R103Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.R316Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	316	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ATTGTGGCCCGAGAGGTGGAG	0.557																																																0													50	48	49					18																	7955227		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.947G>A	18.37:g.7955227G>A	ENSP00000331418:p.Arg316Gln		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948266	0.53186	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053577	0.64402	D	0.000001	T	0.42494	0.1205	L	0.55103	1.725	0.44295	D	0.997162	P;P;P	0.50617	0.661;0.937;0.937	B;B;B	0.39971	0.152;0.315;0.315	T	0.27773	-1.0064	10	0.27785	T	0.31	.	13.7	0.62602	0.07:0.0:0.93:0.0	.	103;316;316	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Q	316;316;254;103	ENSP00000331418:R316Q;ENSP00000382933:R316Q;ENSP00000382927:R254Q;ENSP00000387608:R103Q	ENSP00000331418:R316Q	R	+	2	0	PTPRM	7945227	0.998000	0.40836	0.966000	0.40874	0.947000	0.59692	6.510000	0.73729	2.865000	0.98341	0.655000	0.94253	CGA		0.557	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			A	7955227	G	A	7955227	3	1	310	1	0	0	0	0	1	0	0	0	12812	1058	37	1	973	1	PTPRM	18	7955227	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10		7955227	70122021	51	18606											
ROCK1	6093	hgsc.bcm.edu	37	18	18600158	18600158	+	Silent	SNP	G	G	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr18:18600158G>A	ENST00000399799.2	-	12	2255	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	439	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCATTATGCAGCTGTTCTTCC	0.264																																																0													82	76	78					18																	18600158		2202	4288	6490	SO:0001819	synonymous_variant	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1315C>T	18.37:g.18600158G>A			B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	CCDS11870.2																																																																																				0.264	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18600158	G	A	18600158	2	1	310	1	0	0	0	0	0	0	0	1	13523	962	34	2		2	ROCK1	18	18600158	Silent	SNP	G	TCGA-BP-4160-01A-02D-1366-10	10644931	18600158	59477090	52	18607											
DAPK3	1613	hgsc.bcm.edu	37	19	3964716	3964716	+	Silent	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr19:3964716C>T	ENST00000545797.2	-	3	579	c.336G>A	c.(334-336)acG>acA	p.T112T	DAPK3_ENST00000301264.3_Silent_p.T112T			O43293	DAPK3_HUMAN	death-associated protein kinase 3	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> M (in a colorectal adenocarcinoma sample; somatic mutation; greatly reduces kinase acivity, increases cell proliferation and cell survival). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:21487036}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTCCTCCGTCAGCGACT	0.587																																																0													111	109	110					19																	3964716		2203	4300	6503	SO:0001819	synonymous_variant	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.336G>A	19.37:g.3964716C>T			A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	CCDS12116.1																																																																																				0.587	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		T	3964716	C	T	3964716	2	4	310	1	0	0	0	0	0	0	0	1	4239	639	23	1		1	DAPK3	19	3964716	Silent	SNP	C	TCGA-BP-4160-01A-02D-1366-10		3964716	55164267	53	18608											
LDLR	3949	hgsc.bcm.edu;ucsc.edu	37	19	11217289	11217289	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr19:11217289G>A	ENST00000558518.1	+	5	930	c.743G>A	c.(742-744)tGc>tAc	p.C248Y	LDLR_ENST00000455727.2_Intron|LDLR_ENST00000545707.1_Missense_Mutation_p.C121Y|LDLR_ENST00000558013.1_Missense_Mutation_p.C248Y|LDLR_ENST00000535915.1_Missense_Mutation_p.C207Y|LDLR_ENST00000557933.1_Missense_Mutation_p.C248Y	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	248	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.		C -> F (in Bretagne-1).|C -> Y (in FH; British patient). {ECO:0000269|PubMed:9026534}.		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GATGGAAACTGCATCCATGGC	0.522																																					GBM(18;201 575 7820 21545)											1	Unknown(1)	lung(1)	GRCh37	CM920428|CM962656	LDLR	M							136	121	126					19																	11217289		2203	4300	6503	SO:0001583	missense	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.743G>A	19.37:g.11217289G>A	ENSP00000454071:p.Cys248Tyr		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200819	0.58234	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915	D;D	0.99919	-8.0;-8.0	5.1	5.1	0.69264	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000007	D	0.99949	0.9978	H	0.97983	4.12	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.984;0.991	D;D;D;D;D	0.97110	1.0;1.0;0.99;0.99;0.99	D	0.95966	0.8966	10	0.87932	D	0	.	17.2847	0.87138	0.0:0.0:1.0:0.0	.	121;127;207;260;248	B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;LDLR_HUMAN	Y	248;121;207	ENSP00000437639:C121Y;ENSP00000440520:C207Y	ENSP00000252444:C248Y	C	+	2	0	LDLR	11078289	1.000000	0.71417	0.148000	0.22405	0.165000	0.22458	9.796000	0.99103	2.370000	0.80446	0.462000	0.41574	TGC		0.522	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			A	11217289	G	A	11217289	3	1	310	1	0	0	0	0	1	0	0	0	8706	1319	46	2	761	2	LDLR	19	11217289	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10	7252573	11217289	47911694	54	18609											
PRMT1	3276	hgsc.bcm.edu	37	19	50187293	50187293	+	Silent	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr19:50187293C>T	ENST00000391851.4	+	5	597	c.468C>T	c.(466-468)ctC>ctT	p.L156L	MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Silent_p.L128L|PRMT1_ENST00000454376.2_Silent_p.L174L	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	164	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.			DIIISEWMGYCLFYESMLNTVLYARDKWL -> ASSSASGW ATASSTSPCSTPCSMPGTSV (in Ref. 2; BAA11029). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		AGTCCATGCTCAACACCGTGC	0.612																																																0													191	132	152					19																	50187293		2203	4300	6503	SO:0001819	synonymous_variant	3276			D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.468C>T	19.37:g.50187293C>T			B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Silent	SNP	ENST00000391851.4	37	CCDS42592.1	.	.	.	.	.	.	.	.	.	.	C	7.009	0.556349	0.13436	.	.	ENSG00000126457	ENST00000524771	.	.	.	4.15	1.89	0.25635	.	.	.	.	.	T	0.61540	0.2355	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57100	-0.7869	4	.	.	.	-0.1749	11.8655	0.52490	0.0:0.4705:0.5295:0.0	.	.	.	.	L	184	.	.	S	+	2	0	PRMT1	54879105	0.958000	0.32768	1.000000	0.80357	0.677000	0.39632	0.127000	0.15790	0.338000	0.23692	0.591000	0.81541	TCA		0.612	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		T	50187293	C	T	50187293	2	4	310	1	0	0	0	0	0	0	0	1	12540	813	29	2		2	PRMT1	19	50187293	Silent	SNP	C	TCGA-BP-4160-01A-02D-1366-10	38970004	50187293	8941690	55	18610											
PTPRA	5786	hgsc.bcm.edu	37	20	3016252	3016252	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr20:3016252C>A	ENST00000216877.6	+	20	2315	c.1915C>A	c.(1915-1917)Cca>Aca	p.P639T	PTPRA_ENST00000380393.3_Missense_Mutation_p.P648T|PTPRA_ENST00000425918.2_Missense_Mutation_p.P659T|PTPRA_ENST00000399903.2_Missense_Mutation_p.P648T|PTPRA_ENST00000318266.5_Missense_Mutation_p.P639T|PTPRA_ENST00000358719.4_Missense_Mutation_p.P504T|PTPRA_ENST00000356147.3_Missense_Mutation_p.P639T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	648	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCAGTACTGGCCATCTGATGG	0.547																																																0													95	83	87					20																	3016252		2203	4300	6503	SO:0001583	missense	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1915C>A	20.37:g.3016252C>A	ENSP00000216877:p.Pro639Thr		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294636	0.81025	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.57	4.62	0.57501	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	T	0.58119	0.2100	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.958	T	0.72246	-0.4349	10	0.72032	D	0.01	.	16.5675	0.84602	0.0:0.8695:0.1305:0.0	.	659;648;639	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	T	648;639;648;504;258;659;639;639	ENSP00000369756:P648T;ENSP00000216877:P639T;ENSP00000382787:P648T;ENSP00000351559:P504T;ENSP00000393553:P659T;ENSP00000314568:P639T;ENSP00000348468:P639T	ENSP00000216877:P639T	P	+	1	0	PTPRA	2964252	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.037000	0.70956	1.328000	0.45358	0.563000	0.77884	CCA		0.547	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			A	3016252	C	A	3016252	3	1	310	1	0	0	0	0	1	0	0	0	12801	739	26	4	2012	4	PTPRA	20	3016252	Missense_Mutation	SNP	C	TCGA-BP-4160-01A-02D-1366-10		3016252	60009268	56	18611											
UMODL1	89766	hgsc.bcm.edu;ucsc.edu	37	21	43547853	43547853	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr21:43547853G>C	ENST00000408910.2	+	20	3602	c.3602G>C	c.(3601-3603)aGg>aCg	p.R1201T	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.R1329T|UMODL1_ENST00000400427.1_Missense_Mutation_p.R1257T|UMODL1_ENST00000400424.2_Missense_Mutation_p.R1129T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1201	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TTCAAGCTGAGGATCTTTTCC	0.507																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											0													124	122	123					21																	43547853		2017	4182	6199	SO:0001583	missense	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3602G>C	21.37:g.43547853G>C	ENSP00000386147:p.Arg1201Thr		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	7.040	0.562261	0.13498	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	3.67	0.14	0.14804	Zona pellucida sperm-binding protein (3);	0.287943	0.23608	N	0.046368	T	0.75679	0.3882	L	0.53249	1.67	0.23762	N	0.996917	P;B	0.36535	0.557;0.279	B;B	0.39258	0.295;0.194	T	0.64118	-0.6482	9	.	.	.	-14.6857	6.4564	0.21932	0.5867:0.0:0.4133:0.0	.	1329;1201	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	1257;1129;1329;1201;86	ENSP00000383279:R1257T;ENSP00000383276:R1129T;ENSP00000386126:R1329T;ENSP00000386147:R1201T	.	R	+	2	0	UMODL1	42420922	1.000000	0.71417	0.640000	0.29408	0.019000	0.09904	1.945000	0.40273	0.015000	0.14971	-0.367000	0.07326	AGG		0.507	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			C	43547853	G	C	43547853	3	2	310	1	0	0	0	0	1	0	0	0	16985	1000	35	4	4060	4	UMODL1	21	43547853	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10		43547853	4582042	57	18612											
USP18	11274	hgsc.bcm.edu	37	22	18640565	18640565	+	Silent	SNP	C	C	T			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr22:18640565C>T	ENST00000215794.7	+	2	565	c.135C>T	c.(133-135)ccC>ccT	p.P45P		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	45					cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GAGAGCGTCCCAGGGCCTGGG	0.562																																																0													105	104	104					22																	18640565		2203	4300	6503	SO:0001819	synonymous_variant	11274			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.135C>T	22.37:g.18640565C>T			Q53Y90|Q6IAD9|Q9NY71	Silent	SNP	ENST00000215794.7	37	CCDS13752.1																																																																																				0.562	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			T	18640565	C	T	18640565	2	4	310	1	0	0	0	0	0	0	0	1	17054	581	21	2		2	USP18	22	18640565	Silent	SNP	C	TCGA-BP-4160-01A-02D-1366-10		18640565	32664001	58	18613											
CABIN1	23523	hgsc.bcm.edu	37	22	24434873	24434873	+	Silent	SNP	C	C	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr22:24434873C>A	ENST00000398319.2	+	4	559	c.174C>A	c.(172-174)gcC>gcA	p.A58A	CABIN1_ENST00000263119.5_Silent_p.A58A|CABIN1_ENST00000405822.2_Silent_p.A58A	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	58					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGCCAAAGCCTACCATGAGC	0.562																																																0													94	86	89					22																	24434873		2203	4300	6503	SO:0001819	synonymous_variant	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.174C>A	22.37:g.24434873C>A			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	CCDS13823.1																																																																																				0.562	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24434873	C	A	24434873	2	1	310	1	0	0	0	0	0	0	0	1	2530	668	24	4		4	CABIN1	22	24434873	Silent	SNP	C	TCGA-BP-4160-01A-02D-1366-10	5794308	24434873	26869693	59	18614											
MKL1	57591	hgsc.bcm.edu;ucsc.edu	37	22	40825689	40825689	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr22:40825689A>C	ENST00000355630.3	-	7	812	c.222T>G	c.(220-222)atT>atG	p.I74M	MKL1_ENST00000402630.1_Missense_Mutation_p.I74M|MKL1_ENST00000402042.1_Missense_Mutation_p.I74M|MKL1_ENST00000407029.1_Missense_Mutation_p.I74M|MKL1_ENST00000396617.3_Missense_Mutation_p.I74M	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	74	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCCTCTGTGCAATCTTCTCAT	0.577			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													119	103	109					22																	40825689		2203	4300	6503	SO:0001583	missense	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.222T>G	22.37:g.40825689A>C	ENSP00000347847:p.Ile74Met		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119379	0.77323	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630	D;D;D;D;D	0.99871	-7.35;-7.35;-7.35;-7.35;-7.35	5.25	-5.05	0.02955	.	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	M	0.69823	2.125	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.98621	1.0667	10	0.87932	D	0	-11.6657	10.1178	0.42601	0.3121:0.0:0.5412:0.1468	.	74;74;74	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	M	74	ENSP00000347847:I74M;ENSP00000379861:I74M;ENSP00000385584:I74M;ENSP00000385835:I74M;ENSP00000385076:I74M	ENSP00000347847:I74M	I	-	3	3	MKL1	39155635	0.937000	0.31787	0.928000	0.36995	0.993000	0.82548	0.071000	0.14594	-0.698000	0.05085	0.383000	0.25322	ATT		0.577	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		C	40825689	A	C	40825689	3	2	310	1	0	0	0	0	1	0	0	0	9603	126	5	5	2609	5	MKL1	22	40825689	Missense_Mutation	SNP	A	TCGA-BP-4160-01A-02D-1366-10	16390816	40825689	10478877	60	18615											
NDUFA6	4700	hgsc.bcm.edu;ucsc.edu	37	22	42482291	42482291	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chr22:42482291T>C	ENST00000498737.2	-	3	493	c.361A>G	c.(361-363)Aaa>Gaa	p.K121E	NDUFA6_ENST00000602404.1_Missense_Mutation_p.K95E|NDUFA6_ENST00000470753.1_Missense_Mutation_p.K38E	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	121					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						TTCCATACTTTAATTGTTTCT	0.458																																																0													189	167	175					22																	42482291		2203	4300	6503	SO:0001583	missense	4700			AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7690	protein-coding gene	gene with protein product	"complex I B14 subunit"	602138	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.361A>G	22.37:g.42482291T>C	ENSP00000418842:p.Lys121Glu		B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Missense_Mutation	SNP	ENST00000498737.2	37	CCDS33656.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492141	0.44352	.	.	ENSG00000184983	ENST00000498737	T	0.63580	-0.05	6.17	4.02	0.46733	.	0.479918	0.27500	N	0.019087	T	0.45895	0.1365	N	0.24115	0.695	0.33284	D	0.562692	B	0.15930	0.015	B	0.12837	0.008	T	0.46938	-0.9155	10	0.14656	T	0.56	-0.4883	13.3636	0.60669	0.0:0.0:0.3739:0.6261	.	121	P56556	NDUA6_HUMAN	E	121	ENSP00000418842:K121E	ENSP00000418842:K121E	K	-	1	0	NDUFA6	40812237	0.659000	0.27411	0.094000	0.20943	0.953000	0.61014	0.343000	0.19944	0.534000	0.28695	0.533000	0.62120	AAA		0.458	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4	NM_002490		C	42482291	T	C	42482291	3	2	310	1	0	0	0	0	1	0	0	0	10271	1763	61	3	107	3	NDUFA6	22	42482291	Missense_Mutation	SNP	T	TCGA-BP-4160-01A-02D-1366-10	1656602	42482291	8822275	61	18616											
ARSD	414	hgsc.bcm.edu	37	X	2833631	2833631	+	Silent	SNP	A	A	G	rs377542415		TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chrX:2833631A>G	ENST00000381154.1	-	6	1041	c.966T>C	c.(964-966)taT>taC	p.Y322Y	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	322					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATTATCACCATATAAGCCAT	0.507																																																0													236	159	185					X																	2833631		2203	4300	6503	SO:0001819	synonymous_variant	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.966T>C	X.37:g.2833631A>G			Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																				0.507	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			G	2833631	A	G	2833631	2	3	310	1	0	0	0	0	0	0	0	1	989	224	8	3		3	ARSD	23	2833631	Silent	SNP	A	TCGA-BP-4160-01A-02D-1366-10		2833631	152436929	62	18617											
OTC	5009	hgsc.bcm.edu	37	X	38211976	38211976	+	Missense_Mutation	SNP	A	A	T	rs72552297		TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chrX:38211976A>T	ENST00000039007.4	+	1	179	c.27A>T	c.(25-27)ttA>ttT	p.L9F	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	9					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.L9F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GGATCCTGTTAAACAATGCAG	0.418																																																1	Substitution - Missense(1)	ovary(1)											155	127	136					X																	38211976		2202	4300	6502	SO:0001583	missense	5009			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.27A>T	X.37:g.38211976A>T	ENSP00000039007:p.Leu9Phe		A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	a	6.144	0.394849	0.11638	.	.	ENSG00000036473	ENST00000039007	D	0.99176	-5.52	5.77	1.97	0.26223	.	0.570391	0.17778	N	0.162330	D	0.93903	0.8049	N	0.08118	0	0.26399	N	0.976459	B	0.02656	0.0	B	0.01281	0.0	D	0.87494	0.2429	10	0.13470	T	0.59	-3.6709	5.8666	0.18779	0.1724:0.2911:0.5365:0.0	.	9	P00480	OTC_HUMAN	F	9	ENSP00000039007:L9F	ENSP00000039007:L9F	L	+	3	2	OTC	38096920	0.995000	0.38212	0.941000	0.38009	0.629000	0.37895	0.450000	0.21762	-0.033000	0.13736	-0.918000	0.02743	TTA		0.418	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			T	38211976	A	T	38211976	3	4	310	1	0	0	0	0	1	0	0	0	11303	359	13	5	29	5	OTC	23	38211976	Missense_Mutation	SNP	A	TCGA-BP-4160-01A-02D-1366-10	35378345	38211976	117058584	63	18618											
USP9X	8239	hgsc.bcm.edu	37	X	41047253	41047253	+	Silent	SNP	A	A	G			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chrX:41047253A>G	ENST00000324545.8	+	25	4326	c.3693A>G	c.(3691-3693)agA>agG	p.R1231R	USP9X_ENST00000378308.2_Silent_p.R1231R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1231					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.R1224S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGGCTTCAAGATATATGCCTG	0.323																																					Ovarian(172;1807 2695 35459 49286)											1	Substitution - Missense(1)	breast(1)											67	60	62					X																	41047253		2178	4283	6461	SO:0001819	synonymous_variant	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3693A>G	X.37:g.41047253A>G			O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	CCDS43930.1																																																																																				0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		G	41047253	A	G	41047253	2	3	310	1	0	0	0	0	0	0	0	1	17095	330	12	3		3	USP9X	23	41047253	Silent	SNP	A	TCGA-BP-4160-01A-02D-1366-10	2835277	41047253	114223307	64	18619											
GAGE10	643832	hgsc.bcm.edu	37	X	49173729	49173729	+	Missense_Mutation	SNP	G	G	A	rs199839509		TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chrX:49173729G>A	ENST00000407599.3	+	4	383	c.290G>A	c.(289-291)gGc>gAc	p.G97D		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	97										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CAGGAGATGGGCCTGCCAAAT	0.483																																																0													141	141	141					X																	49173729		2202	4300	6502	SO:0001583	missense	643832					Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.290G>A	X.37:g.49173729G>A	ENSP00000385415:p.Gly97Asp			Missense_Mutation	SNP	ENST00000407599.3	37	CCDS43938.1	.	.	.	.	.	.	.	.	.	.	.	0.086	-1.175531	0.01646	.	.	ENSG00000215274	ENST00000407599	T	0.08807	3.05	1.62	-2.74	0.05932	.	.	.	.	.	T	0.03011	0.0089	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.43718	-0.9374	9	0.22706	T	0.39	.	3.3124	0.07021	0.4939:0.2215:0.2845:0.0	.	97	A6NGK3	GAG10_HUMAN	D	97	ENSP00000385415:G97D	ENSP00000385415:G97D	G	+	2	0	GAGE10	49060673	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.836000	0.01690	-1.172000	0.02762	-0.571000	0.04153	GGC		0.483	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1	NM_001098413		A	49173729	G	A	49173729	3	1	310	1	0	0	0	0	1	0	0	0	6189	1203	42	2	300	2	GAGE10	23	49173729	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10	8126476	49173729	106096831	65	18620											
CCNB3	85417	hgsc.bcm.edu;ucsc.edu	37	X	50052672	50052672	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4160-01A-02D-1366-10	TCGA-BP-4160-11A-01D-1806-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	91fc0b5e-0cb8-48f8-94c0-abf7e668e965	5a1faf3e-afc7-4b3e-880d-5a767db34ab5	g.chrX:50052672G>A	ENST00000376042.1	+	6	1801	c.1503G>A	c.(1501-1503)atG>atA	p.M501I	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M501I|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	501					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGGGACAATGTCCCACTTGA	0.423																																																0													46	43	44					X																	50052672		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1503G>A	X.37:g.50052672G>A	ENSP00000365210:p.Met501Ile		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	7.461	0.644668	0.14451	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.17691	2.26;2.26	3.38	1.6	0.23607	.	987.722000	0.00166	N	0.000000	T	0.15305	0.0369	L	0.39898	1.24	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.19128	-1.0315	9	.	.	.	.	4.7819	0.13206	0.3007:0.0:0.6993:0.0	.	501	Q8WWL7	CCNB3_HUMAN	I	501	ENSP00000365210:M501I;ENSP00000276014:M501I	.	M	+	3	0	CCNB3	50069412	0.003000	0.15002	0.001000	0.08648	0.220000	0.24768	0.101000	0.15251	0.300000	0.22699	0.509000	0.49947	ATG		0.423	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			A	50052672	G	A	50052672	3	1	310	1	0	0	0	0	1	0	0	0	2916	1377	48	2	1517	2	CCNB3	23	50052672	Missense_Mutation	SNP	G	TCGA-BP-4160-01A-02D-1366-10	878943	50052672	105217888	66	18621											
SEPN1	57190	broad.mit.edu;hgsc.bcm.edu	37	1	26138019	26138019	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:26138019T>C	ENST00000374315.1	+	7	1021	c.983T>C	c.(982-984)aTa>aCa	p.I328T	SEPN1_ENST00000354177.4_Missense_Mutation_p.I328T|RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000361547.2_Missense_Mutation_p.I362T	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	362						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.I362T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGGCTACATACCCCAGGTG	0.612											OREG0013258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											145	155	151					1																	26138019		2084	4210	6294	SO:0001583	missense	57190			AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.983T>C	1.37:g.26138019T>C	ENSP00000363434:p.Ile328Thr	784	A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233202	0.58777	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.89552	-2.53;-2.53;-2.53	5.26	4.14	0.48551	.	0.116740	0.64402	D	0.000018	T	0.79924	0.4530	N	0.19112	0.55	0.31851	N	0.622243	B;B	0.23937	0.066;0.094	B;B	0.21708	0.036;0.026	T	0.80448	-0.1378	10	0.72032	D	0.01	-11.9014	9.1499	0.36955	0.0:0.0828:0.0:0.9172	.	328;362	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	T	362;328;328	ENSP00000355141:I362T;ENSP00000346109:I328T;ENSP00000363434:I328T	ENSP00000346109:I328T	I	+	2	0	SEPN1	26010606	1.000000	0.71417	0.993000	0.49108	0.919000	0.55068	5.930000	0.70104	1.992000	0.58205	0.402000	0.26972	ATA		0.612	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		C	26138019	T	C	26138019	3	2	311	1	0	0	0	0	1	0	0	0	14062	1406	49	3	1115	3	SEPN1	1	26138019	Missense_Mutation	SNP	T	TCGA-BP-4161-01A-02D-1386-10		26138019	223112602	1	18622											
FNBP1L	54874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	93987691	93987691	+	Splice_Site	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:93987691C>T	ENST00000271234.7	+	3	344	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	FNBP1L_ENST00000604705.1_Splice_Site_p.R65W|FNBP1L_ENST00000260506.8_Splice_Site_p.R65W|FNBP1L_ENST00000370253.2_Splice_Site_p.R65W|FNBP1L_ENST00000370256.4_Splice_Site_p.R65W	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	65	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R65W(4)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGAAGAGCCACGGTAAATTAC	0.239																																																4	Substitution - Missense(4)	kidney(4)											18	16	17					1																	93987691		1777	4039	5816	SO:0001630	splice_region_variant	54874				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"chromosome 1 open reading frame 39"	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.194+1C>T	1.37:g.93987691C>T			J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.535899	0.64972	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.47	4.35	0.52113	.	0.184649	0.51477	D	0.000093	T	0.42404	0.1201	M	0.65975	2.015	0.80722	D	1	D;D	0.58970	0.978;0.984	P;P	0.54100	0.618;0.742	T	0.47761	-0.9092	10	0.72032	D	0.01	-29.649	12.5175	0.56040	0.854:0.146:0.0:0.0	.	65;65	Q5T0N5-4;Q5T0N5-3	.;.	W	65	ENSP00000359278:R65W;ENSP00000271234:R65W;ENSP00000260506:R65W;ENSP00000359275:R65W	ENSP00000260506:R65W	R	+	1	2	FNBP1L	93760279	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.386000	0.44380	0.921000	0.36994	-0.457000	0.05445	CGG		0.239	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737	Missense_Mutation	T	93987691	C	T	93987691	5	4	311	1	0	0	0	0	0	0	1	0	5968	550	19	1	203	1	FNBP1L	1	93987691	Splice_Site	SNP	C	TCGA-BP-4161-01A-02D-1386-10	67849672	93987691	155262930	2	18623											
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu	37	1	144931265	144931265	+	Intron	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:144931265G>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Silent_p.I148I|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000529945.1_Silent_p.I148I|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.I148I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTGGCTCCTGGATCTGATCCT	0.552			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Substitution - coding silent(1)	kidney(1)											134	134	134					1																	144931265		2203	4300	6503	SO:0001627	intron_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7444C>T	1.37:g.144931265G>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																				0.552	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144931265	G	A	144931265	1	1	311	0	1	0	0	0	0	0	0	0	11645	1164	41	2		2	PDE4DIP	1	144931265	Intron	SNP	G	TCGA-BP-4161-01A-02D-1386-10	50943574	144931265	104319356	3	18624											
ZNF687	57592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151259628	151259628	+	Missense_Mutation	SNP	A	A	T	rs149043825	byFrequency	TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:151259628A>T	ENST00000368879.2	+	2	959	c.861A>T	c.(859-861)gaA>gaT	p.E287D		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	287	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E287D(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAAGGAAGAAGATGATGATG	0.607													A|||	2	0.000399361	0.0008	0.0	5008	,	,		19426	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						A	ASP/GLU	1,4405		0,1,2202	52	56	55		861	0.5	0.7	1	dbSNP_134	55	0,8600		0,0,4300	yes	missense	ZNF687	NM_020832.1	45	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	possibly-damaging	287/1238	151259628	1,13005	2203	4300	6503	SO:0001583	missense	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.861A>T	1.37:g.151259628A>T	ENSP00000357874:p.Glu287Asp		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37		2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	A	11.61	1.689576	0.29962	2.27E-4	0.0	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00940	5.52;5.52;5.84	4.8	0.529	0.17095	.	0.000000	0.36200	N	0.002736	T	0.00695	0.0023	L	0.29908	0.895	0.24192	N	0.995547	D;D;D	0.61697	0.99;0.984;0.99	D;D;D	0.73380	0.98;0.956;0.98	T	0.56232	-0.8013	9	.	.	.	.	4.9561	0.14041	0.551:0.1513:0.2978:0.0	.	287;287;287	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	D	287	ENSP00000336620:E287D;ENSP00000319829:E287D;ENSP00000357874:E287D	.	E	+	3	2	ZNF687	149526252	0.122000	0.22280	0.661000	0.29709	0.196000	0.23810	0.206000	0.17375	0.046000	0.15833	0.459000	0.35465	GAA		0.607	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		T	151259628	A	T	151259628	3	4	311	1	0	0	0	0	1	0	0	0	18097	69	3	5	863	5	ZNF687	1	151259628	Missense_Mutation	SNP	A	TCGA-BP-4161-01A-02D-1386-10	6328363	151259628	97990993	4	18625											
SLAMF1	6504	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160607007	160607007	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:160607007C>T	ENST00000302035.6	-	2	738	c.389G>A	c.(388-390)cGc>cAc	p.R130H	SLAMF1_ENST00000355199.3_Missense_Mutation_p.R130H|SLAMF1_ENST00000235739.5_Missense_Mutation_p.R130H|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R130H	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	130	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.R130H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGGCAAAAGCGCTGAACTGA	0.478																																																1	Substitution - Missense(1)	kidney(1)											92	92	92					1																	160607007		2203	4300	6503	SO:0001583	missense	6504			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.389G>A	1.37:g.160607007C>T	ENSP00000306190:p.Arg130His		Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	C	0.436	-0.900910	0.02472	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	4.19	-2.54	0.06307	Signaling lymphocytic activation molecule, N-terminal (1);	6.663380	0.00166	N	0.000000	T	0.03915	0.0110	N	0.01009	-1.055	0.09310	N	1	B;B	0.16802	0.012;0.019	B;B	0.08055	0.003;0.002	T	0.13602	-1.0503	10	0.40728	T	0.16	-3.9217	0.9063	0.01285	0.1666:0.3109:0.1713:0.3512	.	130;130	B4E2E4;Q13291	.;SLAF1_HUMAN	H	130	ENSP00000306190:R130H;ENSP00000235739:R130H;ENSP00000438406:R130H;ENSP00000347333:R130H	ENSP00000235739:R130H	R	-	2	0	SLAMF1	158873631	0.000000	0.05858	0.000000	0.03702	0.326000	0.28443	-0.207000	0.09384	-0.475000	0.06852	-0.339000	0.08088	CGC		0.478	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			T	160607007	C	T	160607007	3	4	311	1	0	0	0	0	1	0	0	0	14373	768	27	1	642	1	SLAMF1	1	160607007	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	9347379	160607007	88643614	5	18626											
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	216052254	216052254	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:216052254C>T	ENST00000307340.3	-	42	8796	c.8410G>A	c.(8410-8412)Gga>Aga	p.G2804R	USH2A_ENST00000366943.2_Missense_Mutation_p.G2804R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2804	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G2804R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCACCCTCCAAGGTACCCA	0.443										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	kidney(1)											182	167	172					1																	216052254		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8410G>A	1.37:g.216052254C>T	ENSP00000305941:p.Gly2804Arg		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706574	0.89018	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.9	4.98	0.66077	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.159522	0.28996	N	0.013471	T	0.73225	0.3560	M	0.78916	2.43	0.49582	D	0.999802	D	0.89917	1.0	D	0.72075	0.976	T	0.77446	-0.2585	10	0.66056	D	0.02	.	16.4922	0.84205	0.1321:0.8679:0.0:0.0	.	2804	O75445	USH2A_HUMAN	R	2804	ENSP00000305941:G2804R;ENSP00000355910:G2804R	ENSP00000305941:G2804R	G	-	1	0	USH2A	214118877	1.000000	0.71417	0.864000	0.33941	0.957000	0.61999	7.294000	0.78760	1.482000	0.48325	0.650000	0.86243	GGA		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216052254	C	T	216052254	3	4	311	1	0	0	0	0	1	0	0	0	17041	603	21	2	7322	2	USH2A	1	216052254	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	55445247	216052254	33198367	6	18627											
OR2G2	81470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247752125	247752125	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:247752125G>A	ENST00000320065.1	+	1	464	c.464G>A	c.(463-465)gGa>gAa	p.G155E	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G155E(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTCAGTGGAATAGCCACC	0.552																																																1	Substitution - Missense(1)	kidney(1)											226	198	207					1																	247752125		2203	4300	6503	SO:0001583	missense	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.464G>A	1.37:g.247752125G>A	ENSP00000326349:p.Gly155Glu		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647290	0.29246	.	.	ENSG00000177489	ENST00000320065	T	0.40756	1.02	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37304	U	0.002149	T	0.75831	0.3903	H	0.98918	4.37	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72398	-0.4306	10	0.87932	D	0	.	9.5446	0.39273	0.0:0.0:0.7901:0.2099	.	155	Q8NGZ5	OR2G2_HUMAN	E	155	ENSP00000326349:G155E	ENSP00000326349:G155E	G	+	2	0	OR2G2	245818748	0.016000	0.18221	0.821000	0.32701	0.114000	0.19823	1.299000	0.33424	2.206000	0.71126	0.591000	0.81541	GGA		0.552	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			A	247752125	G	A	247752125	3	1	311	1	0	0	0	0	1	0	0	0	11000	1174	41	2	466	2	OR2G2	1	247752125	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10	31699871	247752125	1498496	7	18628											
EPAS1	2034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	46605874	46605874	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:46605874G>A	ENST00000263734.3	+	11	2032	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	508	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.D508N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCGCCATGGACACAGAGGC	0.537																																																1	Substitution - Missense(1)	kidney(1)											138	129	132					2																	46605874		2203	4300	6503	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1522G>A	2.37:g.46605874G>A	ENSP00000263734:p.Asp508Asn		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	36	5.885811	0.97068	.	.	ENSG00000116016	ENST00000263734	T	0.56275	0.47	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.72491	-0.4277	10	0.62326	D	0.03	.	19.4812	0.95011	0.0:0.0:1.0:0.0	.	508	Q99814	EPAS1_HUMAN	N	508	ENSP00000263734:D508N	ENSP00000263734:D508N	D	+	1	0	EPAS1	46459378	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.864000	0.99589	2.615000	0.88500	0.650000	0.86243	GAC		0.537	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		A	46605874	G	A	46605874	3	1	311	1	0	0	0	0	1	0	0	0	5152	1174	41	2	1564	2	EPAS1	2	46605874	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10		46605874	196593499	8	18629											
MEIS1	4211	hgsc.bcm.edu	37	2	66739382	66739383	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:66739382_66739383insT	ENST00000272369.9	+	8	1301_1302	c.844_845insT	c.(844-846)gtafs	p.V282fs	MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000398506.2_Frame_Shift_Ins_p.V280fs|MEIS1_ENST00000407092.2_Frame_Shift_Ins_p.V282fs|MEIS1_ENST00000495021.2_Frame_Shift_Ins_p.V217fs|MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000560281.2_Frame_Shift_Ins_p.V282fs|MEIS1_ENST00000488550.1_Frame_Shift_Ins_p.V282fs	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	282					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CTTTCCCAAAGTAGCCACAAAT	0.426																																																0																																										SO:0001589	frameshift_variant	4211				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"Homeoboxes / TALE class"	7000	protein-coding gene	gene with protein product		601739	"Meis1 (mouse) homolog", "Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.845dupT	2.37:g.66739383_66739383dupT	ENSP00000272369:p.Val282fs		A8MV50	Frame_Shift_Ins	INS	ENST00000272369.9	37	CCDS46309.1																																																																																				0.426	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		T	66739383	-	T	66739382	7	5	311	1	0	1	1	0	0	0	0	0	9469	1029	36	0	874	0	MEIS1	2	66739382	Frame_Shift_Ins	INS	-	TCGA-BP-4161-01A-02D-1386-10	20133508	66739382	176459991	9	18630											
ANKRD36	375248	hgsc.bcm.edu	37	2	97883055	97883055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:97883055delG	ENST00000461153.2	+	64	4043	c.3799delG	c.(3799-3801)gttfs	p.V1267fs	ANKRD36_ENST00000420699.2_Frame_Shift_Del_p.V1267fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1267										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TAAAAAGAAAGTTTCTCTTTT	0.274																																																0													66	56	59					2																	97883055		692	1591	2283	SO:0001589	frameshift_variant	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3799delG	2.37:g.97883055delG	ENSP00000419530:p.Val1267fs		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Frame_Shift_Del	DEL	ENST00000461153.2	37	CCDS54379.1																																																																																				0.274	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			-	97883055	G	-	97883055	7	5	311	1	0	1	0	1	0	0	0	0	665	1029	36	0	4053	0	ANKRD36	2	97883055	Frame_Shift_Del	DEL	G	TCGA-BP-4161-01A-02D-1386-10	31143673	97883055	145316318	10	18631											
BAZ2B	29994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160194250	160194250	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:160194250C>A	ENST00000392783.2	-	32	5983	c.5488G>T	c.(5488-5490)Gag>Tag	p.E1830*	BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.E1794*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.E1796*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.E1730*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1830					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1830*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACCAAGTCCTCCCTTTCTGAT	0.388																																																1	Substitution - Nonsense(1)	kidney(1)											92	87	89					2																	160194250		1887	4118	6005	SO:0001587	stop_gained	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5488G>T	2.37:g.160194250C>A	ENSP00000376534:p.Glu1830*		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Nonsense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	47	13.461802	0.99743	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	.	.	.	5.78	5.78	0.91487	.	0.000000	0.37348	U	0.002134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.0306	20.0022	0.97423	0.0:1.0:0.0:0.0	.	.	.	.	X	1794;1830;1796;1730;48	.	ENSP00000339670:E1730X	E	-	1	0	BAZ2B	159902496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.107000	0.57811	2.738000	0.93877	0.655000	0.94253	GAG		0.388	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			A	160194250	C	A	160194250	4	1	311	1	0	0	0	0	0	1	0	0	1332	864	30	4	1042	4	BAZ2B	2	160194250	Nonsense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	62311195	160194250	83005123	11	18632											
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	169995117	169995117	+	Silent	SNP	A	A	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:169995117A>C	ENST00000263816.3	-	75	13773	c.13488T>G	c.(13486-13488)ccT>ccG	p.P4496P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4496					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.P4496P(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TAGCAGTCTCAGGTCCAAAAC	0.393																																																1	Substitution - coding silent(1)	kidney(1)											112	89	97					2																	169995117		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13488T>G	2.37:g.169995117A>C			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	169995117	A	C	169995117	2	2	311	1	0	0	0	0	0	0	0	1	8958	175	7	5		5	LRP2	2	169995117	Silent	SNP	A	TCGA-BP-4161-01A-02D-1386-10	9800867	169995117	73204256	12	18633											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179457765	179457765	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:179457765C>A	ENST00000591111.1	-	250	54382	c.54158G>T	c.(54157-54159)tGc>tTc	p.C18053F	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C10821F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C17126F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C10754F|TTN_ENST00000460472.2_Missense_Mutation_p.C10629F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C19694F|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18053	Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.C10821F(1)|p.C17126F(1)|p.C10754F(1)|p.C10629F(1)|p.C17124F(1)		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)			GACTGAATTGCATGTTGTATC	0.378																																																5	Substitution - Missense(5)	kidney(5)											119	113	115					2																	179457765		1895	4131	6026	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54158G>T	2.37:g.179457765C>A	ENSP00000465570:p.Cys18053Phe		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	10.30	1.311318	0.23821	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.16	4.16	0.48862	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30947	0.0781	N	0.08118	0	0.36613	D	0.875324	B;B;P;B	0.37612	0.427;0.427;0.602;0.427	B;B;B;B	0.39617	0.305;0.305;0.305;0.214	T	0.37197	-0.9716	9	0.87932	D	0	.	4.5431	0.12067	0.0:0.5951:0.0:0.4049	.	10629;10754;10821;18053	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	17126;10629;10821;10754;10627	ENSP00000343764:C17126F;ENSP00000434586:C10629F;ENSP00000340554:C10821F;ENSP00000352154:C10754F	ENSP00000340554:C10821F	C	-	2	0	TTN	179166011	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.199000	0.58426	1.627000	0.50400	0.650000	0.86243	TGC		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179457765	C	A	179457765	3	1	311	1	0	0	0	0	1	0	0	0	16740	710	25	4	49150	4	TTN	2	179457765	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	9462648	179457765	63741608	13	18634											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47079180	47079181	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr3:47079180_47079181insG	ENST00000409792.3	-	18	7367_7368	c.7325_7326insC	c.(7324-7326)ccafs	p.P2442fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2442					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CATCATATGTTGGAGTTCCCAG	0.5			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7326dupC	3.37:g.47079182_47079182dupG	ENSP00000386759:p.Pro2442fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	CCDS2749.2																																																																																				0.5	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47079181	-	G	47079180	7	5	311	1	0	1	1	0	0	0	0	0	14137	1799	63	0	384	0	SETD2	3	47079180	Frame_Shift_Ins	INS	-	TCGA-BP-4161-01A-02D-1386-10		47079180	150943250	14	18635											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52702514	52702514	+	Splice_Site	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr3:52702514C>T	ENST00000296302.7	-	3	385	c.384G>A	c.(382-384)aaG>aaA	p.K128K	PBRM1_ENST00000356770.4_Splice_Site_p.K128K|PBRM1_ENST00000337303.4_Splice_Site_p.K128K|PBRM1_ENST00000410007.1_Splice_Site_p.K128K|PBRM1_ENST00000409114.3_Splice_Site_p.K128K|PBRM1_ENST00000394830.3_Splice_Site_p.K128K|PBRM1_ENST00000409057.1_Splice_Site_p.K128K|PBRM1_ENST00000409767.1_Splice_Site_p.K128K			Q86U86	PB1_HUMAN	polybromo 1	128	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K128K(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATTTCTTACCTTATAATAGG	0.313			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - coding silent(3)	kidney(3)											50	48	49					3																	52702514		2202	4297	6499	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.384+1G>A	3.37:g.52702514C>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																					0.313	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Silent	T	52702514	C	T	52702514	5	4	311	1	0	0	0	0	0	0	1	0	11493	695	24	2	4628	2	PBRM1	3	52702514	Splice_Site	SNP	C	TCGA-BP-4161-01A-02D-1386-10	5623334	52702514	145319916	15	18636											
CEP97	79598	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	101476746	101476746	+	Silent	SNP	T	T	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr3:101476746T>C	ENST00000341893.3	+	9	2048	c.1296T>C	c.(1294-1296)gaT>gaC	p.D432D	CEP97_ENST00000494050.1_Silent_p.D373D|CEP97_ENST00000327230.4_Silent_p.D432D			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	432	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.D432D(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCTAGAAGATGATGGTGTTG	0.463																																																2	Substitution - coding silent(2)	kidney(2)											106	102	103					3																	101476746		2203	4300	6503	SO:0001819	synonymous_variant	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1296T>C	3.37:g.101476746T>C			B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	CCDS2944.1																																																																																				0.463	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		C	101476746	T	C	101476746	2	2	311	1	0	0	0	0	0	0	0	1	3265	1461	51	3		3	CEP97	3	101476746	Silent	SNP	T	TCGA-BP-4161-01A-02D-1386-10	48774232	101476746	96545684	16	18637											
MUC7	4589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71346891	71346891	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr4:71346891A>T	ENST00000304887.5	+	3	620	c.430A>T	c.(430-432)Aat>Tat	p.N144Y	MUC7_ENST00000413702.1_Missense_Mutation_p.N144Y|MUC7_ENST00000456088.1_Missense_Mutation_p.N144Y|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	144	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.N144Y(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTCAAGAGAAAATGTTAACAC	0.463																																																1	Substitution - Missense(1)	kidney(1)											200	185	190					4																	71346891		2203	4300	6503	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.430A>T	4.37:g.71346891A>T	ENSP00000302021:p.Asn144Tyr		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	A	9.783	1.175929	0.21704	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.53857	0.6;0.6;0.6	3.01	-2.24	0.06909	.	.	.	.	.	T	0.48732	0.1516	N	0.24115	0.695	0.09310	N	1	D	0.64830	0.994	P	0.62184	0.899	T	0.44742	-0.9308	8	.	.	.	.	7.3152	0.26498	0.4713:0.0:0.5287:0.0	.	144	Q8TAX7	MUC7_HUMAN	Y	144	ENSP00000407422:N144Y;ENSP00000400585:N144Y;ENSP00000302021:N144Y	.	N	+	1	0	MUC7	71381480	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.171000	0.09883	-0.456000	0.07043	-0.250000	0.11733	AAT		0.463	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		T	71346891	A	T	71346891	3	4	311	1	0	0	0	0	1	0	0	0	9983	14	1	5	436	5	MUC7	4	71346891	Missense_Mutation	SNP	A	TCGA-BP-4161-01A-02D-1386-10		71346891	119807385	17	18638											
SDAD1	55153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	76897076	76897076	+	Splice_Site	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr4:76897076C>T	ENST00000356260.5	-	5	596		c.e5+1		SDAD1_ENST00000513089.1_5'Flank|SDAD1_ENST00000395711.4_Splice_Site	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1						actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)		p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGAGTACTTACTACATTCACT	0.323																																																1	Unknown(1)	kidney(1)											146	129	135					4																	76897076		2202	4300	6502	SO:0001630	splice_region_variant	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.477+1G>A	4.37:g.76897076C>T			Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Splice_Site	SNP	ENST00000356260.5	37	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321576	0.41096	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1121	0.86678	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDAD1	77116100	1.000000	0.71417	0.964000	0.40570	0.355000	0.29361	7.220000	0.78008	2.634000	0.89283	0.655000	0.94253	.		0.323	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115	Intron	T	76897076	C	T	76897076	5	4	311	1	0	0	0	0	0	0	1	0	13956	579	20	2	1657	2	SDAD1	4	76897076	Splice_Site	SNP	C	TCGA-BP-4161-01A-02D-1386-10	5550185	76897076	114257200	18	18639											
ANKRD50	57182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	125631530	125631530	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr4:125631530C>G	ENST00000504087.1	-	2	1174	c.137G>C	c.(136-138)aGt>aCt	p.S46T	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	46								p.S46T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTGACAGCACTATTGCAGCA	0.483																																																1	Substitution - Missense(1)	kidney(1)											99	97	98					4																	125631530		2203	4300	6503	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.137G>C	4.37:g.125631530C>G	ENSP00000425658:p.Ser46Thr		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939784	0.34189	.	.	ENSG00000151458	ENST00000504087	T	0.17213	2.29	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.16471	0.0396	L	0.29908	0.895	0.43226	D	0.995119	B	0.11235	0.004	B	0.12156	0.007	T	0.03306	-1.1050	10	0.45353	T	0.12	.	18.9826	0.92760	0.0:1.0:0.0:0.0	.	46	Q9ULJ7	ANR50_HUMAN	T	46	ENSP00000425658:S46T	ENSP00000425658:S46T	S	-	2	0	ANKRD50	125850980	0.963000	0.33076	0.490000	0.27465	0.974000	0.67602	1.104000	0.31074	2.721000	0.93114	0.561000	0.74099	AGT		0.483	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		G	125631530	C	G	125631530	3	3	311	1	0	0	0	0	1	0	0	0	677	565	20	4	4164	4	ANKRD50	4	125631530	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	48734454	125631530	65522746	19	18640											
PALLD	23022	broad.mit.edu	37	4	169433483	169433483	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr4:169433483G>C	ENST00000505667.1	+	2	1001	c.828G>C	c.(826-828)aaG>aaC	p.K276N	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.K276N|PALLD_ENST00000333488.4_Missense_Mutation_p.K153N			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	276	Ig-like C2-type 1.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.K276N(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCATCCAAAAGCTGAGGAGCC	0.532									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)											1	Substitution - Missense(1)	kidney(1)											48	45	46					4																	169433483		2203	4300	6503	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.828G>C	4.37:g.169433483G>C	ENSP00000425556:p.Lys276Asn		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203060	0.58234	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.24	3.19	0.36642	.	0.000000	0.33110	U	0.005261	T	0.70911	0.3278	L	0.41027	1.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66984	-0.5785	10	0.30854	T	0.27	.	9.8768	0.41209	0.2651:0.0:0.7348:0.0	.	276;276	B7ZMM5;B2RTX2	.;.	N	276;276;255;153	ENSP00000261509:K276N;ENSP00000425556:K276N;ENSP00000423063:K255N;ENSP00000328945:K153N	ENSP00000261509:K276N	K	+	3	2	PALLD	169670058	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	2.288000	0.43514	1.177000	0.42855	0.467000	0.42956	AAG		0.532	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		C	169433483	G	C	169433483	3	2	311	1	0	0	0	0	1	0	0	0	11409	962	34	4	830	4	PALLD	4	169433483	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10	43801953	169433483	21720793	20	18641											
PCDHGB7	56099	broad.mit.edu	37	5	140797646	140797646	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr5:140797646C>T	ENST00000398594.2	+	1	220	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	74	Cadherin 1. {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)	p.H74Y(1)|p.H74N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGCTGCACTTCAGCGT	0.562																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											101	107	105					5																	140797646		1959	4151	6110	SO:0001583	missense	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.220C>T	5.37:g.140797646C>T	ENSP00000381594:p.His74Tyr		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	2.925	-0.222265	0.06061	.	.	ENSG00000254122	ENST00000398594	T	0.24350	1.86	5.92	4.88	0.63580	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	1.048000	0.07705	N	0.941071	T	0.07413	0.0187	N	0.00765	-1.205	0.23743	N	0.996965	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.31024	-0.9958	10	0.02654	T	1	.	7.1855	0.25797	0.0:0.7685:0.0:0.2315	.	74;74	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	Y	74	ENSP00000381594:H74Y	ENSP00000381594:H74Y	H	+	1	0	PCDHGB7	140777830	0.020000	0.18652	1.000000	0.80357	0.939000	0.58152	0.411000	0.21115	2.822000	0.97130	0.650000	0.86243	CAC		0.562	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		T	140797646	C	T	140797646	3	4	311	1	0	0	0	0	1	0	0	0	11570	710	25	2	222	2	PCDHGB7	5	140797646	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10		140797646	40117614	21	18642											
PCDHGC5	56097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140869478	140869478	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr5:140869478G>T	ENST00000252087.1	+	1	671	c.671G>T	c.(670-672)gGg>gTg	p.G224V	PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G224V(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTCAGGGACCACCCTT	0.552																																																2	Substitution - Missense(2)	kidney(2)											92	97	95					5																	140869478		2203	4300	6503	SO:0001583	missense	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.671G>T	5.37:g.140869478G>T	ENSP00000252087:p.Gly224Val		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300531	0.40694	.	.	ENSG00000240764	ENST00000252087	T	0.01725	4.67	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.106321	0.42548	D	0.000691	T	0.23926	0.0579	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.43228	-0.9404	10	0.87932	D	0	.	20.2751	0.98485	0.0:0.0:1.0:0.0	.	224;224	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	V	224	ENSP00000252087:G224V	ENSP00000252087:G224V	G	+	2	0	PCDHGC5	140849662	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	9.822000	0.99363	2.890000	0.99128	0.655000	0.94253	GGG		0.552	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		T	140869478	G	T	140869478	3	4	311	1	0	0	0	0	1	0	0	0	11573	1232	43	4	673	4	PCDHGC5	5	140869478	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10	71832	140869478	40045782	22	18643											
PDGFRB	5159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	5	149505045	149505046	+	Missense_Mutation	DNP	GT	GT	AG			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G|T	G|T	G|.	A|.	G|.	G|.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr5:149505045_149505046GT>AG	ENST00000261799.4	-	12	2238_2239	c.1769_1770AC>CT	c.(1768-1770)gAC>gCT	p.D590A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	590					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.D590A(1)|p.D590D(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCACGTGGAGTCATAGGGCAG	0.584			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1769_1770delinsAG	5.37:g.149505045_149505046delinsAG	ENSP00000261799:p.Asp590Ala		B5A957|Q8N5L4	Silent|Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																				0.584	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		AG	149505046	GT	AG	149505045	3	1	311	1	0	0	0	0	1	0	0	0	11664	1020	36	2	1598	2	PDGFRB	5	149505045	Missense_Mutation	DNP	GT	TCGA-BP-4161-01A-02D-1386-10	8635567	149505045	31410215	23	18644											
MAPK9	5601	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179668101	179668101	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr5:179668101C>T	ENST00000452135.2	-	9	1224	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	MAPK9_ENST00000393360.3_Missense_Mutation_p.R309Q|MAPK9_ENST00000343111.6_Missense_Mutation_p.R309Q|MAPK9_ENST00000347470.4_Missense_Mutation_p.R224Q|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.R309Q|MAPK9_ENST00000524170.1_5'Flank			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.R309Q(3)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACAGAGATCCGCTTGTCAGG	0.393																																																3	Substitution - Missense(3)	kidney(3)											186	193	190					5																	179668101		2203	4300	6503	SO:0001583	missense	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.926G>A	5.37:g.179668101C>T	ENSP00000394560:p.Arg309Gln		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433363	0.62844	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.43	3.57	0.40892	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	H	0.99634	4.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.998;0.999	D	0.98362	1.0549	10	0.87932	D	0	-7.731	12.5159	0.56032	0.1322:0.7408:0.127:0.0	.	309;309;309;309	P45984-4;P45984-3;P45984-2;P45984	.;.;.;MK09_HUMAN	Q	309;309;309;309;224	ENSP00000394560:R309Q;ENSP00000377028:R309Q;ENSP00000389338:R309Q;ENSP00000345524:R309Q;ENSP00000321410:R224Q	ENSP00000345524:R309Q	R	-	2	0	MAPK9	179600707	1.000000	0.71417	0.861000	0.33841	0.316000	0.28119	5.934000	0.70138	1.270000	0.44297	0.557000	0.71058	CGG		0.393	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			T	179668101	C	T	179668101	3	4	311	1	0	0	0	0	1	0	0	0	9289	652	23	1	369	1	MAPK9	5	179668101	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	30163056	179668101	1247159	24	18645											
NUP153	9972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	17624932	17624932	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:17624932G>A	ENST00000262077.2	-	20	4033	c.4034C>T	c.(4033-4035)tCa>tTa	p.S1345L	NUP153_ENST00000537253.1_Missense_Mutation_p.S1376L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1345					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.S1345L(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGTGGAAGATGATATAGATCC	0.527																																																1	Substitution - Missense(1)	kidney(1)											120	120	120					6																	17624932		2203	4300	6503	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.4034C>T	6.37:g.17624932G>A	ENSP00000262077:p.Ser1345Leu		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415529	0.62511	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.07800	3.16;3.16	5.37	5.37	0.77165	.	0.157357	0.29684	N	0.011472	T	0.05686	0.0149	L	0.47716	1.5	0.21553	N	0.999648	B;B;B	0.32753	0.383;0.049;0.049	B;B;B	0.36719	0.231;0.039;0.016	T	0.13176	-1.0519	10	0.45353	T	0.12	-11.0056	17.6484	0.88155	0.0:0.0:1.0:0.0	.	1376;1325;1345	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	L	1345;1325;1376	ENSP00000262077:S1345L;ENSP00000444029:S1376L	ENSP00000262077:S1345L	S	-	2	0	NUP153	17732911	0.866000	0.29940	0.258000	0.24420	0.960000	0.62799	4.771000	0.62318	2.681000	0.91329	0.655000	0.94253	TCA		0.527	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			A	17624932	G	A	17624932	3	1	311	1	0	0	0	0	1	0	0	0	10757	1294	45	2	405	2	NUP153	6	17624932	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10		17624932	153490135	25	18646											
KIF13A	63971	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	17783914	17783914	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:17783914C>T	ENST00000259711.6	-	29	3612	c.3507G>A	c.(3505-3507)atG>atA	p.M1169I	KIF13A_ENST00000378826.2_Missense_Mutation_p.M1169I|KIF13A_ENST00000378814.5_Missense_Mutation_p.M1156I|KIF13A_ENST00000378843.2_Missense_Mutation_p.M1156I|KIF13A_ENST00000378816.5_Missense_Mutation_p.M1169I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1169					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M1169I(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGTGGGTTTCCATTCCAGGAG	0.343																																																2	Substitution - Missense(2)	kidney(2)											69	67	68					6																	17783914		1816	4074	5890	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3507G>A	6.37:g.17783914C>T	ENSP00000259711:p.Met1169Ile		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077859|4.077859	0.76528|0.76528	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044|ENST00000358380	T;T;T;T;T;T|.	0.72942|.	-0.68;1.66;-0.7;-0.67;-0.68;-0.67|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.036518|.	0.85682|.	D|.	0.000000|.	T|.	0.68201|.	0.2975|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.34290|.	0.088;0.447;0.053;0.27|.	B;B;B;B|.	0.31245|.	0.126;0.097;0.059;0.07|.	T|.	0.64812|.	-0.6319|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.3733|19.3733	0.94498|0.94498	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1156;1169;1169;1156|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	I|X	1156;173;1169;1169;1156;1169;167|563	ENSP00000368091:M1156I;ENSP00000425616:M173I;ENSP00000259711:M1169I;ENSP00000368103:M1169I;ENSP00000368120:M1156I;ENSP00000368093:M1169I|.	ENSP00000259711:M1169I|.	M|W	-|-	3|2	0|0	KIF13A|KIF13A	17891893|17891893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.681000|7.681000	0.84073|0.84073	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	ATG|TGG		0.343	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			T	17783914	C	T	17783914	3	4	311	1	0	0	0	0	1	0	0	0	8276	594	21	2	1979	2	KIF13A	6	17783914	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	158982	17783914	153331153	26	18647											
DPCR1	135656	broad.mit.edu;hgsc.bcm.edu	37	6	30917885	30917885	+	Silent	SNP	C	C	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:30917885C>G	ENST00000462446.1	+	2	1672	c.1644C>G	c.(1642-1644)gcC>gcG	p.A548A	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	101						integral component of membrane (GO:0016021)		p.A548A(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAAGGACAGCCAATGAGAAGA	0.532																																																1	Substitution - coding silent(1)	kidney(1)											55	64	61					6																	30917885		692	1591	2283	SO:0001819	synonymous_variant	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1644C>G	6.37:g.30917885C>G			C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	CCDS4692.2																																																																																				0.532	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		G	30917885	C	G	30917885	2	3	311	1	0	0	0	0	0	0	0	1	4714	581	21	4		4	DPCR1	6	30917885	Silent	SNP	C	TCGA-BP-4161-01A-02D-1386-10	13133971	30917885	140197182	27	18648											
VARS	7407	broad.mit.edu	37	6	31752484	31752485	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:31752484_31752485delGA	ENST00000375663.3	-	11	1794_1795	c.1354_1355delTC	c.(1354-1356)tcafs	p.S452fs	VARS_ENST00000482996.1_5'Flank|VARS_ENST00000444930.2_Frame_Shift_Del_p.S157fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	452					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CACAGCTGCTGAGAGTTTCTGG	0.594																																																0																																										SO:0001589	frameshift_variant	7407			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1354_1355delTC	6.37:g.31752486_31752487delGA	ENSP00000364815:p.Ser452fs		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Frame_Shift_Del	DEL	ENST00000375663.3	37	CCDS34412.1																																																																																				0.594	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		-	31752485	GA	-	31752484	7	5	311	1	0	1	0	1	0	0	0	0	17128	1294	45	0	2519	0	VARS	6	31752484	Frame_Shift_Del	DEL	GA	TCGA-BP-4161-01A-02D-1386-10	834599	31752484	139362583	28	18649											
UBR2	23304	hgsc.bcm.edu;ucsc.edu	37	6	42626515	42626515	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:42626515G>T	ENST00000372899.1	+	29	3453	c.3195G>T	c.(3193-3195)caG>caT	p.Q1065H	UBR2_ENST00000372883.3_Missense_Mutation_p.S573I|UBR2_ENST00000372901.1_Missense_Mutation_p.Q1065H	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1065					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AACTCTTTCAGCAGACATTAG	0.378																																																0													84	85	85					6																	42626515		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3195G>T	6.37:g.42626515G>T	ENSP00000361990:p.Gln1065His		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.98|17.98	3.519748|3.519748	0.64634|0.64634	.|.	.|.	ENSG00000024048|ENSG00000024048	ENST00000372899;ENST00000372901|ENST00000372883	T;T|T	0.58940|0.58358	0.3;0.3|0.34	5.63|5.63	3.86|3.86	0.44501|0.44501	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.38188|0.38188	0.1031|0.1031	L|L	0.53249|0.53249	1.67|1.67	0.26122|0.26122	N|N	0.980537|0.980537	D;D|.	0.89917|.	1.0;0.99|.	D;P|.	0.75484|.	0.986;0.827|.	T|T	0.34527|0.34527	-0.9825|-0.9825	10|7	0.14252|0.87932	T|D	0.57|0	-21.1954|-21.1954	8.7984|8.7984	0.34894|0.34894	0.3472:0.0:0.6528:0.0|0.3472:0.0:0.6528:0.0	.|.	1065;1065|.	Q8IWV8-4;Q8IWV8|.	.;UBR2_HUMAN|.	H|I	1065|573	ENSP00000361990:Q1065H;ENSP00000361992:Q1065H|ENSP00000361974:S573I	ENSP00000361990:Q1065H|ENSP00000361974:S573I	Q|S	+|+	3|2	2|0	UBR2|UBR2	42734493|42734493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.567000|3.567000	0.53813|0.53813	0.723000|0.723000	0.32274|0.32274	-0.259000|-0.259000	0.10710|0.10710	CAG|AGC		0.378	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		T	42626515	G	T	42626515	3	4	311	1	0	0	0	0	1	0	0	0	16907	962	34	4	3455	4	UBR2	6	42626515	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10	10874031	42626515	128488552	29	18650											
RIMS1	22999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	73001656	73001656	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:73001656C>G	ENST00000521978.1	+	26	3757	c.3757C>G	c.(3757-3759)Cca>Gca	p.P1253A	RIMS1_ENST00000538414.1_Missense_Mutation_p.P49A|RIMS1_ENST00000520567.1_Missense_Mutation_p.P1075A|RIMS1_ENST00000522291.1_Missense_Mutation_p.P1024A|RIMS1_ENST00000491071.2_Missense_Mutation_p.P1076A|RIMS1_ENST00000523963.1_Missense_Mutation_p.P550A|RIMS1_ENST00000348717.5_Missense_Mutation_p.P1045A|RIMS1_ENST00000264839.7_Missense_Mutation_p.P1102A|RIMS1_ENST00000517960.1_Missense_Mutation_p.P1045A|RIMS1_ENST00000518273.1_Missense_Mutation_p.P1104A|RIMS1_ENST00000425662.2_Missense_Mutation_p.P493A|RIMS1_ENST00000517827.1_Missense_Mutation_p.P559A|RIMS1_ENST00000401910.3_Missense_Mutation_p.P573A	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1253					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.P1253A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACAGAGAAGTCCAACACAATC	0.488																																																1	Substitution - Missense(1)	kidney(1)											23	24	23					6																	73001656		1982	4134	6116	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3757C>G	6.37:g.73001656C>G	ENSP00000428417:p.Pro1253Ala		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.28|12.28	1.889189|1.889189	0.33348|0.33348	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420;ENST00000538414|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.16597|0.14144	2.6;2.84;2.65;2.84;2.6;2.65;2.78;2.68;2.77;2.64;2.65;2.65;2.65;2.34;2.33|2.53	5.57|5.57	4.7|4.7	0.59300|0.59300	.|.	0.282938|.	0.30392|.	N|.	0.009730|.	T|T	0.06234|0.06234	0.0161|0.0161	N|N	0.22421|0.22421	0.69|0.69	0.29795|0.29795	N|N	0.832922|0.832922	B;B;B;B;P;B;B;B;B;B;B;P;P|.	0.40534|.	0.319;0.382;0.255;0.252;0.72;0.157;0.214;0.177;0.073;0.018;0.155;0.469;0.677|.	B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.37601|.	0.05;0.146;0.028;0.044;0.254;0.103;0.033;0.079;0.048;0.01;0.108;0.097;0.18|.	T|T	0.24404|0.24404	-1.0161|-1.0161	10|7	0.09843|0.46703	T|T	0.71|0.11	-5.0616|-5.0616	12.9165|12.9165	0.58209|0.58209	0.0:0.9247:0.0:0.0753|0.0:0.9247:0.0:0.0753	.|.	49;49;559;550;1102;573;1024;328;1104;1045;329;1076;1253|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	A|C	1076;1102;1076;1045;1104;1024;1102;1045;1104;1075;1024;1253;573;550;493;418;559;301;49|598	ENSP00000430101:P1076A;ENSP00000275037:P1045A;ENSP00000264839:P1102A;ENSP00000429959:P1045A;ENSP00000430408:P1104A;ENSP00000430502:P1075A;ENSP00000430932:P1024A;ENSP00000428417:P1253A;ENSP00000385649:P573A;ENSP00000428328:P550A;ENSP00000411235:P493A;ENSP00000389503:P418A;ENSP00000428367:P559A;ENSP00000359448:P301A;ENSP00000439730:P49A|ENSP00000430359:S598C	ENSP00000264839:P1102A|ENSP00000430359:S598C	P|S	+|+	1|2	0|0	RIMS1|RIMS1	73058377|73058377	0.989000|0.989000	0.36119|0.36119	0.290000|0.290000	0.24890|0.24890	0.686000|0.686000	0.39977|0.39977	3.367000|3.367000	0.52350|0.52350	1.484000|1.484000	0.48361|0.48361	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.488	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	73001656	C	G	73001656	3	3	311	1	0	0	0	0	1	0	0	0	13373	855	30	4	4022	4	RIMS1	6	73001656	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	30375141	73001656	98113411	30	18651											
MAD1L1	8379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	2255571	2255571	+	Silent	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr7:2255571C>T	ENST00000406869.1	-	9	1430	c.873G>A	c.(871-873)ggG>ggA	p.G291G	MAD1L1_ENST00000399654.2_Silent_p.G291G|MAD1L1_ENST00000265854.7_Silent_p.G291G|MAD1L1_ENST00000402746.1_Silent_p.G199G|MAD1L1_ENST00000486340.1_5'Flank			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	291					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.G291G(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTCCTGGCGCCCCAGCTTCC	0.617																																																1	Substitution - coding silent(1)	kidney(1)											134	163	153					7																	2255571		2159	4257	6416	SO:0001819	synonymous_variant	8379			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.873G>A	7.37:g.2255571C>T			B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	CCDS43539.1																																																																																				0.617	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		T	2255571	C	T	2255571	2	4	311	1	0	0	0	0	0	0	0	1	9149	726	26	2		2	MAD1L1	7	2255571	Silent	SNP	C	TCGA-BP-4161-01A-02D-1386-10		2255571	156883092	31	18652											
CDK13	8621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	40134281	40134281	+	Frame_Shift_Del	DEL	C	C	-	rs370641481		TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr7:40134281delC	ENST00000181839.4	+	14	4846	c.4241delC	c.(4240-4242)gctfs	p.A1414fs	CDK13_ENST00000340829.5_Frame_Shift_Del_p.A1354fs	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1414					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TACCTCAATGCTGGTCCCATG	0.483																																																0													164	152	156					7																	40134281		2203	4300	6503	SO:0001589	frameshift_variant	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4241delC	7.37:g.40134281delC	ENSP00000181839:p.Ala1414fs		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Frame_Shift_Del	DEL	ENST00000181839.4	37	CCDS5461.1																																																																																				0.483	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		-	40134281	C	-	40134281	7	5	311	1	0	1	0	1	0	0	0	0	3131	797	28	0	4295	0	CDK13	7	40134281	Frame_Shift_Del	DEL	C	TCGA-BP-4161-01A-02D-1386-10	37878710	40134281	119004382	32	18653											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82582155	82582155	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr7:82582155A>G	ENST00000333891.9	-	5	8451	c.8114T>C	c.(8113-8115)cTa>cCa	p.L2705P	PCLO_ENST00000423517.2_Missense_Mutation_p.L2705P|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L2705P(2)|p.L2636P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATGTTATCTAGAGCAAGAGG	0.403																																																3	Substitution - Missense(3)	kidney(3)											58	56	57					7																	82582155		1852	4093	5945	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8114T>C	7.37:g.82582155A>G	ENSP00000334319:p.Leu2705Pro			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	6.288	0.421290	0.11928	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.25912	1.95;1.77	5.36	2.68	0.31781	.	.	.	.	.	T	0.19406	0.0466	L	0.36672	1.1	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.14023	0.01;0.01	T	0.06162	-1.0842	9	0.87932	D	0	.	7.9645	0.30091	0.7933:0.0:0.0753:0.1314	.	2705;2705	Q9Y6V0-5;Q9Y6V0-6	.;.	P	2636;2705;2705	ENSP00000334319:L2705P;ENSP00000388393:L2705P	ENSP00000334319:L2705P	L	-	2	0	PCLO	82420091	0.991000	0.36638	0.993000	0.49108	0.980000	0.70556	1.567000	0.36407	0.883000	0.36040	0.482000	0.46254	CTA		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82582155	A	G	82582155	3	3	311	1	0	0	0	0	1	0	0	0	11585	420	15	3	7415	3	PCLO	7	82582155	Missense_Mutation	SNP	A	TCGA-BP-4161-01A-02D-1386-10	42447874	82582155	76556508	33	18654											
TFR2	7036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100238672	100238672	+	Silent	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr7:100238672G>A	ENST00000462107.1	-	3	500	c.213C>T	c.(211-213)ctC>ctT	p.L71L	TFR2_ENST00000223051.3_Silent_p.L71L|TFR2_ENST00000431692.1_Silent_p.L71L			Q9UP52	TFR2_HUMAN	transferrin receptor 2	71					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)	p.L71L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CCCAGGGAATGAGGTTTGGCT	0.677																																																1	Substitution - coding silent(1)	kidney(1)											21	24	23					7																	100238672		2202	4298	6500	SO:0001819	synonymous_variant	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.213C>T	7.37:g.100238672G>A			A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	ENST00000462107.1	37	CCDS34707.1																																																																																				0.677	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		A	100238672	G	A	100238672	2	1	311	1	0	0	0	0	0	0	0	1	15816	1277	45	2		2	TFR2	7	100238672	Silent	SNP	G	TCGA-BP-4161-01A-02D-1386-10	17656517	100238672	58899991	34	18655											
LRRCC1	85444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	86044062	86044062	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr8:86044062G>T	ENST00000360375.3	+	12	1983	c.1834G>T	c.(1834-1836)Gcc>Tcc	p.A612S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.A592S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	612					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A592S(1)|p.A612S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAAAGAAATAGCCAAAGAAGA	0.348																																																2	Substitution - Missense(2)	kidney(2)											97	91	93					8																	86044062		1835	4086	5921	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1834G>T	8.37:g.86044062G>T	ENSP00000353538:p.Ala612Ser		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427865	0.43122	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.35605	1.3;1.3	5.64	3.63	0.41609	.	0.437580	0.16922	N	0.194042	T	0.31575	0.0801	L	0.55103	1.725	0.39157	D	0.962337	B;B;B;B	0.27351	0.047;0.176;0.047;0.156	B;B;B;B	0.21546	0.025;0.025;0.025;0.035	T	0.09487	-1.0672	10	0.10111	T	0.7	-0.7951	14.4738	0.67533	0.0:0.0:0.672:0.328	.	519;592;519;612	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	S	612;592	ENSP00000353538:A612S;ENSP00000394695:A592S	ENSP00000353538:A612S	A	+	1	0	LRRCC1	86231314	1.000000	0.71417	0.326000	0.25389	0.937000	0.57800	4.151000	0.58105	0.649000	0.30751	0.650000	0.86243	GCC		0.348	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		T	86044062	G	T	86044062	3	4	311	1	0	0	0	0	1	0	0	0	9028	971	34	4	1880	4	LRRCC1	8	86044062	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10		86044062	60319960	35	18656											
C8orf47	203111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	99101674	99101674	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr8:99101674delA	ENST00000318528.3	+	2	788	c.429delA	c.(427-429)ctafs	p.L143fs	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		143										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CCGAGTCTCTAAAAGGAAATG	0.552																																																0													66	67	67					8																	99101674		2203	4300	6503	SO:0001589	frameshift_variant	203111																														ENST00000318528.3:c.429delA	8.37:g.99101674delA	ENSP00000315614:p.Leu143fs		G3V1K4|Q8N1L8	Frame_Shift_Del	DEL	ENST00000318528.3	37	CCDS34929.1																																																																																				0.552	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			-	99101674	A	-	99101674	7	5	311	1	0	1	0	1	0	0	0	0	2434	349	13	0	435	0	C8orf47	8	99101674	Frame_Shift_Del	DEL	A	TCGA-BP-4161-01A-02D-1386-10	13057612	99101674	47262348	36	18657											
SMARCA2	6595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2039524	2039524	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr9:2039524G>A	ENST00000382203.1	+	4	623	c.414G>A	c.(412-414)atG>atA	p.M138I	SMARCA2_ENST00000357248.2_Missense_Mutation_p.M138I|SMARCA2_ENST00000382194.1_Missense_Mutation_p.M138I|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Missense_Mutation_p.M138I|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	138					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.M138I(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCAGCCCTATGTCTGGAGGAG	0.572																																																2	Substitution - Missense(2)	kidney(2)											77	83	81					9																	2039524		2203	4300	6503	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.414G>A	9.37:g.2039524G>A	ENSP00000371638:p.Met138Ile		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770226	0.31320	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000439732;ENST00000382203;ENST00000382194	D;D;T;D;D	0.86627	-2.15;-2.15;0.93;-2.15;-2.15	5.46	-0.889	0.10580	.	0.315495	0.33515	N	0.004837	T	0.67353	0.2884	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.08055	0.003;0.001	T	0.39057	-0.9632	10	0.23891	T	0.37	-3.5547	5.4783	0.16708	0.2944:0.4125:0.2931:0.0	.	138;138	P51531-2;P51531	.;SMCA2_HUMAN	I	138	ENSP00000265773:M138I;ENSP00000349788:M138I;ENSP00000392081:M138I;ENSP00000371638:M138I;ENSP00000371629:M138I	ENSP00000265773:M138I	M	+	3	0	SMARCA2	2029524	1.000000	0.71417	0.348000	0.25681	0.912000	0.54170	1.455000	0.35190	-0.542000	0.06249	0.655000	0.94253	ATG		0.572	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		A	2039524	G	A	2039524	3	1	311	1	0	0	0	0	1	0	0	0	14775	1377	48	2	424	2	SMARCA2	9	2039524	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10		2039524	139173907	37	18658											
UNC13B	10497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35310690	35310690	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr9:35310690G>T	ENST00000378495.3	+	9	1210	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	UNC13B_ENST00000396787.1_Nonsense_Mutation_p.E342*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.E330*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	330					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.E330*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGCAGCATGTGAACCCAAGGA	0.547																																																1	Substitution - Nonsense(1)	kidney(1)											124	114	117					9																	35310690		2203	4300	6503	SO:0001587	stop_gained	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.988G>T	9.37:g.35310690G>T	ENSP00000367756:p.Glu330*		Q5VYM8	Nonsense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281977	0.80692	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	.	.	.	5.81	4.92	0.64577	.	0.728958	0.13944	N	0.351981	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.6761	11.6715	0.51403	0.1456:0.0:0.8544:0.0	.	.	.	.	X	342;330;330	.	ENSP00000367756:E330X	E	+	1	0	UNC13B	35300690	1.000000	0.71417	0.961000	0.40146	0.037000	0.13140	2.895000	0.48648	1.462000	0.47948	0.655000	0.94253	GAA		0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		T	35310690	G	T	35310690	4	4	311	1	0	0	0	0	0	1	0	0	16990	1291	45	4	1022	4	UNC13B	9	35310690	Nonsense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10	33271166	35310690	105902741	38	18659											
FAM166A	401565	broad.mit.edu	37	9	140140165	140140165	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr9:140140165T>C	ENST00000344774.4	-	2	251	c.197A>G	c.(196-198)gAg>gGg	p.E66G	FAM166A_ENST00000388932.2_Missense_Mutation_p.E66G	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	66						nucleus (GO:0005634)		p.E66G(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GCTGAAGTCCTCAATGAACTT	0.617																																																1	Substitution - Missense(1)	kidney(1)											52	56	55					9																	140140165		2203	4298	6501	SO:0001583	missense	401565			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.197A>G	9.37:g.140140165T>C	ENSP00000344729:p.Glu66Gly		A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685511	0.68157	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	T;T;T	0.45668	0.89;0.89;0.89	5.1	3.97	0.46021	.	0.000000	0.64402	D	0.000001	T	0.43743	0.1261	L	0.56769	1.78	0.34846	D	0.741201	P	0.36909	0.573	P	0.44772	0.46	T	0.59177	-0.7503	10	0.62326	D	0.03	-44.0503	6.8437	0.23977	0.0:0.1784:0.0:0.8216	.	66	Q6J272	F166A_HUMAN	G	66	ENSP00000344729:E66G;ENSP00000373584:E66G;ENSP00000420741:E66G	ENSP00000344729:E66G	E	-	2	0	FAM166A	139259986	0.978000	0.34361	0.999000	0.59377	0.846000	0.48090	2.092000	0.41700	1.912000	0.55364	0.379000	0.24179	GAG		0.617	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		C	140140165	T	C	140140165	3	2	311	1	0	0	0	0	1	0	0	0	5483	1551	54	3	780	3	FAM166A	9	140140165	Missense_Mutation	SNP	T	TCGA-BP-4161-01A-02D-1386-10	104829475	140140165	1073266	39	18660											
PCDH15	65217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	55568846	55568846	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr10:55568846G>A	ENST00000395445.1	-	36	5358	c.4964C>T	c.(4963-4965)gCa>gTa	p.A1655V	PCDH15_ENST00000395442.1_Missense_Mutation_p.A520V|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.A589V|PCDH15_ENST00000395446.1_Missense_Mutation_p.A851V|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTTTCCTTGCTTTTTCTCC	0.473										HNSCC(58;0.16)																																						0													130	100	109					10																	55568846		1568	3582	5150	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4964C>T	10.37:g.55568846G>A	ENSP00000378832:p.Ala1655Val		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37		.	.	.	.	.	.	.	.	.	.	G	13.99	2.402101	0.42613	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;D;D;D	0.97328	2.22;-4.34;-4.34;-4.34	5.55	3.59	0.41128	.	.	.	.	.	D	0.91327	0.7265	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.87270	0.2285	9	0.72032	D	0.01	.	6.0362	0.19708	0.1514:0.0:0.6038:0.2448	.	1653;1655	C6ZEF5;A2A3E2	.;.	V	1655;851;520;589	ENSP00000378832:A1655V;ENSP00000378833:A851V;ENSP00000378829:A520V;ENSP00000378827:A589V	ENSP00000378827:A589V	A	-	2	0	PCDH15	55238852	0.615000	0.27026	0.891000	0.34965	0.613000	0.37349	2.796000	0.47869	1.345000	0.45676	0.655000	0.94253	GCA		0.473	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		A	55568846	G	A	55568846	3	1	311	1	0	0	0	0	1	0	0	0	11513	1319	46	2	952	2	PCDH15	10	55568846	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10		55568846	79965901	40	18661											
ANK3	288	hgsc.bcm.edu;ucsc.edu	37	10	61831858	61831858	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr10:61831858delT	ENST00000280772.2	-	37	8972	c.8781delA	c.(8779-8781)aaafs	p.K2927fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2927					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATATAAGACTTTTTTGGAGG	0.423																																																0													53	54	54					10																	61831858		2203	4300	6503	SO:0001589	frameshift_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8781delA	10.37:g.61831858delT	ENSP00000280772:p.Lys2927fs		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	37	CCDS7258.1																																																																																				0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		-	61831858	T	-	61831858	7	5	311	1	0	1	0	1	0	0	0	0	622	1606	56	0	4693	0	ANK3	10	61831858	Frame_Shift_Del	DEL	T	TCGA-BP-4161-01A-02D-1386-10	6263012	61831858	73702889	41	18662											
PTEN	5728	broad.mit.edu	37	10	89725042	89725042	+	Splice_Site	SNP	A	A	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr10:89725042A>G	ENST00000371953.3	+	9	2383		c.e9-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCTTTCTCTAGGTGAAGCTG	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	55	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(8)|Deletion - In frame(1)	prostate(16)|central_nervous_system(13)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|kidney(1)	GRCh37	CS090868	PTEN	S							42	39	40					10																	89725042		2203	4300	6503	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1027-1A>G	10.37:g.89725042A>G			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.749955	0.49257	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6156	0.76764	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89715022	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	8.915000	0.92740	2.142000	0.66516	0.477000	0.44152	.		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	G	89725042	A	G	89725042	5	3	311	1	0	0	0	0	0	0	1	0	12743	434	15	3	1059	3	PTEN	10	89725042	Splice_Site	SNP	A	TCGA-BP-4161-01A-02D-1386-10	27893184	89725042	45809705	42	18663											
TDRD1	56165	broad.mit.edu;ucsc.edu	37	10	115962900	115962900	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr10:115962900A>T	ENST00000369280.1	+	7	1226	c.766A>T	c.(766-768)Aga>Tga	p.R256*	TDRD1_ENST00000369281.2_Nonsense_Mutation_p.R256*|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000251864.2_Nonsense_Mutation_p.R256*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.R256*			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	256					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.R256*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTCTGATTTGAGAAGTCTACA	0.358																																																1	Substitution - Nonsense(1)	kidney(1)											88	85	86					10																	115962900		2203	4300	6503	SO:0001587	stop_gained	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.766A>T	10.37:g.115962900A>T	ENSP00000358286:p.Arg256*		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Nonsense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	A	38	6.776841	0.97829	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	.	.	.	6.07	3.78	0.43462	.	0.309371	0.28901	N	0.013772	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-15.2058	6.4805	0.22060	0.5234:0.3909:0.0857:0.0	.	.	.	.	X	256	.	ENSP00000251864:R256X	R	+	1	2	TDRD1	115952890	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.496000	0.35638	1.093000	0.41377	0.477000	0.44152	AGA		0.358	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			T	115962900	A	T	115962900	4	4	311	1	0	0	0	0	0	1	0	0	15735	296	11	5	788	5	TDRD1	10	115962900	Nonsense_Mutation	SNP	A	TCGA-BP-4161-01A-02D-1386-10	26237858	115962900	19571847	43	18664											
ATRNL1	26033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	116880014	116880014	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr10:116880014C>A	ENST00000355044.3	+	2	485	c.359C>A	c.(358-360)aCt>aAt	p.T120N	ATRNL1_ENST00000527407.1_Missense_Mutation_p.T120N|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	120	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T120N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACTAAATGTACTTGGCTCATT	0.284																																																1	Substitution - Missense(1)	kidney(1)											39	46	44					10																	116880014		2190	4244	6434	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.359C>A	10.37:g.116880014C>A	ENSP00000347152:p.Thr120Asn		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437993	0.83885	.	.	ENSG00000107518	ENST00000526946;ENST00000355044	T;T	0.53857	0.6;0.6	5.29	5.29	0.74685	CUB (5);	0.000000	0.85682	D	0.000000	T	0.70988	0.3287	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.997;0.997	T	0.72798	-0.4184	10	0.72032	D	0.01	-7.1959	19.2874	0.94084	0.0:1.0:0.0:0.0	.	53;120;120	E9PL90;Q5VV63;Q5VV63-2	.;ATRN1_HUMAN;.	N	53;120	ENSP00000431423:T53N;ENSP00000347152:T120N	ENSP00000347152:T120N	T	+	2	0	ATRNL1	116870004	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.748000	0.85085	2.627000	0.88993	0.585000	0.79938	ACT		0.284	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		A	116880014	C	A	116880014	3	1	311	1	0	0	0	0	1	0	0	0	1207	565	20	4	365	4	ATRNL1	10	116880014	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	917114	116880014	18654733	44	18665											
SLC2A3	6515	broad.mit.edu;hgsc.bcm.edu	37	12	8083142	8083142	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:8083142G>T	ENST00000075120.7	-	5	847	c.607C>A	c.(607-609)Cca>Aca	p.P203T		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	203					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.P203T(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGCAAAATGGAAGGGCTGCA	0.438																																					Colon(96;424 1461 14416 20933 23688)											1	Substitution - Missense(1)	kidney(1)											138	130	133					12																	8083142		2203	4300	6503	SO:0001583	missense	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.607C>A	12.37:g.8083142G>T	ENSP00000075120:p.Pro203Thr		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289899	0.80914	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.73575	-0.76	4.29	4.29	0.51040	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.104145	0.64402	D	0.000002	D	0.86904	0.6045	M	0.87758	2.905	0.54753	D	0.999983	D;D	0.67145	0.995;0.996	D;D	0.72625	0.962;0.978	D	0.88965	0.3396	10	0.62326	D	0.03	.	14.6033	0.68456	0.0:0.0:1.0:0.0	.	129;203	F5H2H8;P11169	.;GTR3_HUMAN	T	203;129	ENSP00000075120:P203T	ENSP00000075120:P203T	P	-	1	0	SLC2A3	7974409	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.808000	0.69165	2.374000	0.81015	0.561000	0.74099	CCA		0.438	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		T	8083142	G	T	8083142	3	4	311	1	0	0	0	0	1	0	0	0	14551	1174	41	4	907	4	SLC2A3	12	8083142	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10		8083142	125768753	45	18666											
PIK3C2G	5288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	18762521	18762521	+	Silent	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:18762521G>A	ENST00000266497.5	+	29	4055	c.4017G>A	c.(4015-4017)gaG>gaA	p.E1339E	PIK3C2G_ENST00000538779.1_Silent_p.E1380E|PIK3C2G_ENST00000433979.1_Silent_p.E1339E			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1339	C2.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.E1339E(1)|p.V1340V(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TATCCTACGAGGATGTGAAGC	0.363																																																2	Substitution - coding silent(2)	kidney(2)											48	46	47					12																	18762521		1874	4099	5973	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.4017G>A	12.37:g.18762521G>A			A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																				0.363	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		A	18762521	G	A	18762521	2	1	311	1	0	0	0	0	0	0	0	1	11913	991	35	2		2	PIK3C2G	12	18762521	Silent	SNP	G	TCGA-BP-4161-01A-02D-1386-10	10679379	18762521	115089374	46	18667											
SLCO1B3	28234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21032479	21032479	+	Silent	SNP	G	G	T	rs577498680		TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:21032479G>T	ENST00000381545.3	+	11	1464	c.1245G>T	c.(1243-1245)tcG>tcT	p.S415S	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.S415S|SLCO1B3_ENST00000553473.1_Silent_p.S415S|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.S415S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	415					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S415S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCTTACTTCGATGATATCCT	0.348																																																1	Substitution - coding silent(1)	kidney(1)											93	87	89					12																	21032479		2203	4299	6502	SO:0001819	synonymous_variant	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1245G>T	12.37:g.21032479G>T			E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	CCDS8684.1																																																																																				0.348	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		T	21032479	G	T	21032479	2	4	311	1	0	0	0	0	0	0	0	1	14730	1045	37	4		4	SLCO1B3	12	21032479	Silent	SNP	G	TCGA-BP-4161-01A-02D-1386-10	2269958	21032479	112819416	47	18668											
COL2A1	1280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48369167	48369167	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:48369167C>A	ENST00000380518.3	-	51	3983	c.3819G>T	c.(3817-3819)gaG>gaT	p.E1273D	COL2A1_ENST00000337299.6_Missense_Mutation_p.E1204D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1273	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E1273D(1)|p.E1204D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGCGGGAGCCCTCGGGGCTGC	0.632																																																2	Substitution - Missense(2)	kidney(2)											68	66	66					12																	48369167		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3819G>T	12.37:g.48369167C>A	ENSP00000369889:p.Glu1273Asp		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	4.427	0.079020	0.08533	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.73363	-0.74;-0.74	4.62	1.7	0.24286	Fibrillar collagen, C-terminal (3);	0.207332	0.39475	N	0.001346	T	0.43299	0.1241	N	0.05383	-0.06	0.41016	D	0.985042	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.09773	-1.0659	10	0.09590	T	0.72	.	1.8657	0.03198	0.2788:0.4279:0.1357:0.1575	.	1204;1273	P02458-1;P02458	.;CO2A1_HUMAN	D	1273;1204;1204	ENSP00000369889:E1273D;ENSP00000338213:E1204D	ENSP00000338213:E1204D	E	-	3	2	COL2A1	46655434	0.001000	0.12720	0.999000	0.59377	0.997000	0.91878	-1.343000	0.02642	0.124000	0.18369	0.561000	0.74099	GAG		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		A	48369167	C	A	48369167	3	1	311	1	0	0	0	0	1	0	0	0	3689	680	24	4	660	4	COL2A1	12	48369167	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	27336688	48369167	85482728	48	18669											
PRPH	5630	broad.mit.edu;ucsc.edu	37	12	49690246	49690246	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:49690246A>G	ENST00000257860.4	+	3	2137	c.638A>G	c.(637-639)gAa>gGa	p.E213G	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0			C -> R (in PDREP). {ECO:0000269|PubMed:9443872}.		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.E213G(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						TCCCGCCTGGAACTAGAGCGC	0.567																																																1	Substitution - Missense(1)	kidney(1)											95	85	88					12																	49690246		2203	4300	6503	SO:0001583	missense	5630				CCDS8783.1	12q12-q13	2013-01-16						"Intermediate filaments type III"	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.638A>G	12.37:g.49690246A>G	ENSP00000257860:p.Glu213Gly		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	A	36	5.918417	0.97105	.	.	ENSG00000135406	ENST00000257860	D	0.90900	-2.75	5.71	5.71	0.89125	Filament (1);	0.000000	0.40385	N	0.001109	D	0.93615	0.7961	M	0.77313	2.365	0.80722	D	1	P	0.51057	0.941	P	0.53988	0.739	D	0.94314	0.7548	10	0.87932	D	0	.	14.9784	0.71293	1.0:0.0:0.0:0.0	.	213	P41219	PERI_HUMAN	G	213	ENSP00000257860:E213G	ENSP00000257860:E213G	E	+	2	0	PRPH	47976513	1.000000	0.71417	0.958000	0.39756	0.996000	0.88848	7.456000	0.80751	2.188000	0.69820	0.533000	0.62120	GAA		0.567	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		G	49690246	A	G	49690246	3	3	311	1	0	0	0	0	1	0	0	0	12581	246	9	3	648	3	PRPH	12	49690246	Missense_Mutation	SNP	A	TCGA-BP-4161-01A-02D-1386-10	1321079	49690246	84161649	49	18670											
BIN2	51411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51690950	51690950	+	Splice_Site	SNP	T	T	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:51690950T>A	ENST00000267012.4	-	8	664		c.e8-2		BIN2_ENST00000452142.2_Splice_Site|BIN2_ENST00000544402.1_Splice_Site|BIN2_ENST00000604560.1_Splice_Site	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2						cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.?(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCAATACGACTATTAGGAAGC	0.433																																																1	Unknown(1)	kidney(1)											94	84	88					12																	51690950		2203	4300	6503	SO:0001630	splice_region_variant	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.603-2A>T	12.37:g.51690950T>A			Q86VV0|Q9NWK4|Q9UKN4	Splice_Site	SNP	ENST00000267012.4	37	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513438	0.85389	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1476	0.65360	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BIN2	49977217	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	7.454000	0.80714	2.237000	0.73441	0.460000	0.39030	.		0.433	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1		Intron	A	51690950	T	A	51690950	5	1	311	1	0	0	0	0	0	0	1	0	1433	1536	53	5	1120	5	BIN2	12	51690950	Splice_Site	SNP	T	TCGA-BP-4161-01A-02D-1386-10	2000704	51690950	82160945	50	18671											
MED13L	23389	broad.mit.edu;ucsc.edu	37	12	116549250	116549250	+	Silent	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:116549250G>T	ENST00000281928.3	-	3	584	c.378C>A	c.(376-378)atC>atA	p.I126I	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	126						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.I126I(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACAGATTGTGGATCGCTTTGA	0.373																																																1	Substitution - coding silent(1)	kidney(1)											133	133	133					12																	116549250		2203	4300	6503	SO:0001819	synonymous_variant	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.378C>A	12.37:g.116549250G>T			A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	CCDS9177.1																																																																																				0.373	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			T	116549250	G	T	116549250	2	4	311	1	0	0	0	0	0	0	0	1	9433	1164	41	4		4	MED13L	12	116549250	Silent	SNP	G	TCGA-BP-4161-01A-02D-1386-10	64858300	116549250	17302645	51	18672											
CDX2	1045	broad.mit.edu	37	13	28542702	28542703	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr13:28542702_28542703insG	ENST00000381020.7	-	1	2573_2574	c.441_442insC	c.(439-444)cccgccfs	p.A148fs	CDX2_ENST00000548877.1_5'Flank	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	148					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GCGGTGGCGGCGGGCCCAGGAG	0.743			T	ETV6	AML																																		Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0										67,3653		8,51,1801						-1.2	0.1			10	80,7208		9,62,3573	no	frameshift	CDX2	NM_001265.3		17,113,5374	A1A1,A1R,RR		1.0977,1.8011,1.3354				147,10861				SO:0001589	frameshift_variant	1045			Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"Homeoboxes / ANTP class : HOXL subclass"	1806	protein-coding gene	gene with protein product		600297	"caudal type homeo box transcription factor 2"	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.442dupC	13.37:g.28542705_28542705dupG	ENSP00000370408:p.Ala148fs		O00503|Q5VTU7|Q969L8|Q9UD92	Frame_Shift_Ins	INS	ENST00000381020.7	37	CCDS9328.1																																																																																				0.743	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5			G	28542703	-	G	28542702	7	5	311	1	0	1	1	0	0	0	0	0	3185	768	27	0	511	0	CDX2	13	28542702	Frame_Shift_Ins	INS	-	TCGA-BP-4161-01A-02D-1386-10		28542702	86627176	52	18673											
ELF1	1997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41515228	41515228	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr13:41515228G>A	ENST00000239882.3	-	8	1399	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	ELF1_ENST00000442101.1_Missense_Mutation_p.A338V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	362					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A362V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TGATGGTTGTGCAACTTCCAC	0.488																																																1	Substitution - Missense(1)	kidney(1)											181	161	168					13																	41515228		2203	4300	6503	SO:0001583	missense	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1085C>T	13.37:g.41515228G>A	ENSP00000239882:p.Ala362Val		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	9.414	1.081222	0.20309	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.20332	2.08;2.08	5.56	2.86	0.33363	.	0.903033	0.09603	N	0.779957	T	0.08358	0.0208	N	0.03608	-0.345	0.20821	N	0.999842	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.41945	-0.9480	10	0.14252	T	0.57	.	5.7506	0.18144	0.3003:0.139:0.5607:0.0	.	338;362	E9PDQ9;P32519	.;ELF1_HUMAN	V	338;104;362	ENSP00000405580:A338V;ENSP00000239882:A362V	ENSP00000239882:A362V	A	-	2	0	ELF1	40413228	0.004000	0.15560	0.887000	0.34795	0.431000	0.31685	0.387000	0.20718	0.377000	0.24735	-0.140000	0.14226	GCA		0.488	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		A	41515228	G	A	41515228	3	1	311	1	0	0	0	0	1	0	0	0	5055	1319	46	2	782	2	ELF1	13	41515228	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10	12972526	41515228	73654650	53	18674											
MYBBP1A	10514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4442824	4442824	+	Silent	SNP	T	T	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr17:4442824T>A	ENST00000254718.4	-	26	4179	c.3873A>T	c.(3871-3873)ccA>ccT	p.P1291P	MYBBP1A_ENST00000381556.2_Silent_p.P1291P			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1291	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.P1291P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCGCGGACAGTGGTGATTTGC	0.587																																																1	Substitution - coding silent(1)	kidney(1)											171	170	170					17																	4442824		2203	4300	6503	SO:0001819	synonymous_variant	10514			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3873A>T	17.37:g.4442824T>A			Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	CCDS11046.1																																																																																				0.587	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		A	4442824	T	A	4442824	2	1	311	1	0	0	0	0	0	0	0	1	10010	1683	59	5		5	MYBBP1A	17	4442824	Silent	SNP	T	TCGA-BP-4161-01A-02D-1386-10		4442824	76752386	54	18675											
POLR2A	5430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7415174	7415174	+	Silent	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr17:7415174G>T	ENST00000322644.6	+	25	4545	c.4146G>T	c.(4144-4146)ctG>ctT	p.L1382L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1382					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.L1382L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AGCGGGAGCTGTACCACGTCA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											138	117	124					17																	7415174		2203	4300	6503	SO:0001819	synonymous_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4146G>T	17.37:g.7415174G>T			A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	CCDS32548.1																																																																																				0.587	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		T	7415174	G	T	7415174	2	4	311	1	0	0	0	0	0	0	0	1	12216	1364	48	4		4	POLR2A	17	7415174	Silent	SNP	G	TCGA-BP-4161-01A-02D-1386-10	2972350	7415174	73780036	55	18676											
GPR179	440435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36499492	36499492	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr17:36499492C>T	ENST00000342292.4	-	1	201	c.181G>A	c.(181-183)Gct>Act	p.A61T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	61					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A61T(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAGAGATAAGCGAGGGCGGCC	0.637																																																1	Substitution - Missense(1)	kidney(1)											35	38	37					17																	36499492		1917	4110	6027	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.181G>A	17.37:g.36499492C>T	ENSP00000345060:p.Ala61Thr			Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	5.940	0.357377	0.11239	.	.	ENSG00000188888	ENST00000342292	T	0.78595	-1.19	5.02	3.03	0.35002	.	0.268217	0.30704	N	0.009046	T	0.74268	0.3694	M	0.70275	2.135	0.23602	N	0.997314	B	0.14012	0.009	B	0.10450	0.005	T	0.64093	-0.6488	10	0.46703	T	0.11	-2.4275	10.6573	0.45682	0.0:0.7691:0.0:0.2309	.	61	Q6PRD1	GP179_HUMAN	T	61	ENSP00000345060:A61T	ENSP00000345060:A61T	A	-	1	0	GPR179	33753018	0.004000	0.15560	0.998000	0.56505	0.015000	0.08874	-0.325000	0.07976	0.312000	0.23038	-0.797000	0.03246	GCT		0.637	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			T	36499492	C	T	36499492	3	4	311	1	0	0	0	0	1	0	0	0	6676	768	27	1	6966	1	GPR179	17	36499492	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	29084318	36499492	44695718	56	18677											
FBN3	84467	broad.mit.edu;ucsc.edu	37	19	8201371	8201371	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:8201371T>G	ENST00000600128.1	-	11	1660	c.1246A>C	c.(1246-1248)Acc>Ccc	p.T416P	FBN3_ENST00000601739.1_Missense_Mutation_p.T416P|FBN3_ENST00000270509.2_Missense_Mutation_p.T416P			Q75N90	FBN3_HUMAN	fibrillin 3	416	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T416P(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACAGGTTGGTGAAGTGTCGG	0.647																																																1	Substitution - Missense(1)	kidney(1)											121	104	110					19																	8201371		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1246A>C	19.37:g.8201371T>G	ENSP00000470498:p.Thr416Pro		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	t	10.02	1.235077	0.22626	.	.	ENSG00000142449	ENST00000270509	T	0.28454	1.61	4.21	2.1	0.27182	Matrix fibril-associated (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	T	0.09202	0.0227	N	0.00869	-1.13	0.33539	D	0.594641	B	0.19331	0.035	B	0.23419	0.046	T	0.15780	-1.0425	10	0.25751	T	0.34	.	7.7856	0.29091	0.0:0.1753:0.0:0.8247	.	416	Q75N90	FBN3_HUMAN	P	416	ENSP00000270509:T416P	ENSP00000270509:T416P	T	-	1	0	FBN3	8107371	0.999000	0.42202	0.836000	0.33094	0.105000	0.19272	0.468000	0.22051	0.093000	0.17368	0.379000	0.24179	ACC		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		G	8201371	T	G	8201371	3	3	311	1	0	0	0	0	1	0	0	0	5706	1696	59	5	7399	5	FBN3	19	8201371	Missense_Mutation	SNP	T	TCGA-BP-4161-01A-02D-1386-10		8201371	50927612	57	18678											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8998753	8998753	+	Silent	SNP	G	G	T	rs369873764		TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:8998753G>T	ENST00000397910.4	-	58	41033	c.40830C>A	c.(40828-40830)acC>acA	p.T13610T	MUC16_ENST00000380951.5_Silent_p.T251T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13612				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T295T(1)|p.T13610T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCACTGTGGGGGTCCCAGGAA	0.502																																																2	Substitution - coding silent(2)	kidney(2)											46	43	44					19																	8998753		1865	4105	5970	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40830C>A	19.37:g.8998753G>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.595	-0.528068	0.04112	.	.	ENSG00000181143	ENST00000542240	.	.	.	0.949	-1.9	0.07665	.	.	.	.	.	T	0.24431	0.0592	.	.	.	.	.	.	.	.	.	.	.	.	T	0.28586	-1.0039	3	.	.	.	.	2.4247	0.04456	0.2548:0.3247:0.4205:0.0	.	.	.	.	H	450	.	.	P	-	2	0	MUC16	8859753	0.000000	0.05858	0.008000	0.14137	0.070000	0.16714	-2.011000	0.01452	-0.537000	0.06290	0.430000	0.28490	CCC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	8998753	G	T	8998753	2	4	311	1	0	0	0	0	0	0	0	1	9975	1219	43	4		4	MUC16	19	8998753	Silent	SNP	G	TCGA-BP-4161-01A-02D-1386-10	797382	8998753	50130230	58	18679											
WIZ	58525	broad.mit.edu	37	19	15559003	15559003	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:15559003C>T	ENST00000389282.4	-	2	329	c.116G>A	c.(115-117)gGg>gAg	p.G39E	WIZ_ENST00000263381.7_Missense_Mutation_p.G39E|MIR1470_ENST00000600745.1_RNA			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	39					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G39E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GCCACCTTCCCCCTCAGCAGC	0.642																																																2	Substitution - Missense(2)	kidney(2)											61	69	67					19																	15559003		1987	4131	6118	SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.116G>A	19.37:g.15559003C>T	ENSP00000373933:p.Gly39Glu		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37		.	.	.	.	.	.	.	.	.	.	C	19.26	3.792927	0.70452	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.08370	3.1	3.67	2.53	0.30540	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.80722	D	1	D	0.61080	0.989	P	0.55923	0.787	T	0.00948	-1.1504	8	0.66056	D	0.02	-16.2584	7.7466	0.28873	0.2497:0.7503:0.0:0.0	.	39	O95785-2	.	E	39	ENSP00000373933:G39E	ENSP00000263381:G39E	G	-	2	0	WIZ	15420003	0.885000	0.30320	1.000000	0.80357	0.998000	0.95712	1.212000	0.32394	2.043000	0.60533	0.561000	0.74099	GGG		0.642	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		T	15559003	C	T	15559003	3	4	311	1	0	0	0	0	1	0	0	0	17380	623	22	2	2296	2	WIZ	19	15559003	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10	6560250	15559003	43569980	59	18680											
RASAL3	64926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15565475	15565475	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:15565475G>A	ENST00000343625.7	-	12	2036	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	651					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)	p.R651C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TACGGGGCACGGTTGGCGAGG	0.662											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											28	32	30					19																	15565475		2038	4217	6255	SO:0001583	missense	64926				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.1951C>T	19.37:g.15565475G>A	ENSP00000341905:p.Arg651Cys	703	Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511635	0.27036	.	.	ENSG00000105122	ENST00000343625	D	0.82344	-1.6	4.82	-0.713	0.11223	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.890365	0.09138	N	0.843437	T	0.66446	0.2790	N	0.16478	0.41	0.32349	N	0.55869	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.56318	-0.7999	10	0.42905	T	0.14	.	4.2031	0.10476	0.4411:0.0:0.3942:0.1647	.	651;651	Q86YV0-2;Q86YV0	.;RASL3_HUMAN	C	651	ENSP00000341905:R651C	ENSP00000341905:R651C	R	-	1	0	RASAL3	15426475	1.000000	0.71417	0.732000	0.30844	0.877000	0.50540	2.083000	0.41615	-0.286000	0.09076	0.561000	0.74099	CGT		0.662	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		A	15565475	G	A	15565475	3	1	311	1	0	0	0	0	1	0	0	0	13071	1116	39	1	1112	1	RASAL3	19	15565475	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10	6472	15565475	43563508	60	18681											
LYPD3	27076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	43969649	43969649	+	Silent	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:43969649G>A	ENST00000244333.3	-	1	163	c.75C>T	c.(73-75)cgC>cgT	p.R25R		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	25					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R25R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCCACCTCCGCGAAGCAGCA	0.667																																																1	Substitution - coding silent(1)	kidney(1)											78	73	74					19																	43969649		2203	4300	6503	SO:0001819	synonymous_variant	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.75C>T	19.37:g.43969649G>A			Q9UJ74	Silent	SNP	ENST00000244333.3	37	CCDS12620.1																																																																																				0.667	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		A	43969649	G	A	43969649	2	1	311	1	0	0	0	0	0	0	0	1	9113	1074	38	1		1	LYPD3	19	43969649	Silent	SNP	G	TCGA-BP-4161-01A-02D-1386-10	28404174	43969649	15159334	61	18682											
ZNF221	7638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44469419	44469419	+	Silent	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:44469419C>T	ENST00000251269.5	+	5	571	c.243C>T	c.(241-243)ttC>ttT	p.F81F	ZNF221_ENST00000587682.1_Silent_p.F81F|ZNF221_ENST00000592350.1_Silent_p.F81F	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	81	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F81F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTTTCCACTTCTTAGGGAAGG	0.403																																																1	Substitution - coding silent(1)	kidney(1)											104	98	100					19																	44469419		2203	4300	6503	SO:0001819	synonymous_variant	7638			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.243C>T	19.37:g.44469419C>T			B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	ENST00000251269.5	37	CCDS12633.1																																																																																				0.403	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			T	44469419	C	T	44469419	2	4	311	1	0	0	0	0	0	0	0	1	17780	912	32	2		2	ZNF221	19	44469419	Silent	SNP	C	TCGA-BP-4161-01A-02D-1386-10	499770	44469419	14659564	62	18683											
ZNF285	26974	hgsc.bcm.edu;ucsc.edu	37	19	44892225	44892225	+	Missense_Mutation	SNP	T	T	G	rs114985922	byFrequency	TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:44892225T>G	ENST00000330997.4	-	4	246	c.182A>C	c.(181-183)aAg>aCg	p.K61T	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.K68T|ZNF285_ENST00000544719.2_Missense_Mutation_p.K61T	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K61T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTTAACCCCTTTGCCTGAAG	0.403																																																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											82	86	84					19																	44892225		2202	4299	6501	SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.182A>C	19.37:g.44892225T>G	ENSP00000333595:p.Lys61Thr		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	6.972	0.549372	0.13374	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06449	3.3	3.86	-2.02	0.07388	Krueppel-associated box (2);	.	.	.	.	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	B;B	0.26363	0.147;0.147	B;B	0.17433	0.018;0.018	T	0.47262	-0.9131	9	0.17832	T	0.49	.	6.3993	0.21630	0.0:0.1093:0.5041:0.3865	.	85;61	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	T	84;61	ENSP00000333595:K61T	ENSP00000333595:K61T	K	-	2	0	ZNF285	49584065	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-2.025000	0.01435	-0.256000	0.09473	0.373000	0.22412	AAG		0.403	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		G	44892225	T	G	44892225	3	3	311	1	0	0	0	0	1	0	0	0	17827	1609	56	5	1594	5	ZNF285	19	44892225	Missense_Mutation	SNP	T	TCGA-BP-4161-01A-02D-1386-10	422806	44892225	14236758	63	18684											
PPP1R15A	23645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49379159	49379159	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:49379159G>A	ENST00000200453.5	+	3	2223	c.1954G>A	c.(1954-1956)Gct>Act	p.A652T		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	652					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.A652T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTTGAGCCAAGCTGTGGCCAC	0.607																																																1	Substitution - Missense(1)	kidney(1)											92	89	90					19																	49379159		2203	4300	6503	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1954G>A	19.37:g.49379159G>A	ENSP00000200453:p.Ala652Thr		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440996	0.25900	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05513	3.43	3.96	-0.558	0.11796	.	1.107710	0.06953	N	0.814932	T	0.04588	0.0125	N	0.24115	0.695	0.09310	N	1	B	0.21452	0.056	B	0.18263	0.021	T	0.46317	-0.9200	10	0.27785	T	0.31	-0.0042	6.5664	0.22515	0.4131:0.0:0.5869:0.0	.	652	O75807	PR15A_HUMAN	T	652;492;610	ENSP00000200453:A652T	ENSP00000200453:A652T	A	+	1	0	PPP1R15A	54070971	0.002000	0.14202	0.000000	0.03702	0.125000	0.20455	1.064000	0.30579	0.009000	0.14813	0.609000	0.83330	GCT		0.607	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		A	49379159	G	A	49379159	3	1	311	1	0	0	0	0	1	0	0	0	12368	971	34	2	1960	2	PPP1R15A	19	49379159	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10	4486934	49379159	9749824	64	18685											
C20orf26	26074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	20243669	20243669	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr20:20243669C>T	ENST00000245957.5	+	21	2474	c.2398C>T	c.(2398-2400)Cgg>Tgg	p.R800W	RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.R156W|C20orf26_ENST00000377309.2_Missense_Mutation_p.R156W|C20orf26_ENST00000389656.3_Missense_Mutation_p.R156W	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		800								p.R800W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CAGCAGTCAGCGGCGGTACAC	0.473																																																1	Substitution - Missense(1)	kidney(1)											118	116	117					20																	20243669		2203	4300	6503	SO:0001583	missense	26074																														ENST00000245957.5:c.2398C>T	20.37:g.20243669C>T	ENSP00000245957:p.Arg800Trp		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919284	0.73098	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.06	4.1	0.47936	.	0.750411	0.13031	N	0.419344	T	0.29321	0.0730	N	0.24115	0.695	0.09310	N	1	D;D;D	0.71674	0.995;0.998;0.995	P;P;P	0.52856	0.711;0.711;0.648	T	0.15636	-1.0430	10	0.48119	T	0.1	.	14.7897	0.69830	0.1453:0.8547:0.0:0.0	.	780;156;800	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	W	740;156;156;780;800;156	ENSP00000366524:R156W;ENSP00000374307:R156W;ENSP00000245957:R800W;ENSP00000366508:R156W	ENSP00000245957:R800W	R	+	1	2	C20orf26	20191669	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	0.801000	0.27055	1.324000	0.45282	0.655000	0.94253	CGG		0.473	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			T	20243669	C	T	20243669	3	4	311	1	0	0	0	0	1	0	0	0	2108	759	27	1	2508	1	C20orf26	20	20243669	Missense_Mutation	SNP	C	TCGA-BP-4161-01A-02D-1386-10		20243669	42781851	65	18686											
KRTAP10-2	386679	hgsc.bcm.edu	37	21	45970772	45970772	+	Silent	SNP	A	A	G	rs76021731|rs67692969|rs71199610	byFrequency	TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr21:45970772A>G	ENST00000391621.1	-	1	616	c.570T>C	c.(568-570)ccT>ccC	p.P190P	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TGCAGCAGACAGGCTTGCAGC	0.607																																																0													111	112	112					21																	45970772		2192	4282	6474	SO:0001819	synonymous_variant	386679			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.570T>C	21.37:g.45970772A>G			Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																				0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			G	45970772	A	G	45970772	2	3	311	1	0	0	0	0	0	0	0	1	8511	175	7	3		3	KRTAP10-2	21	45970772	Silent	SNP	A	TCGA-BP-4161-01A-02D-1386-10		45970772	2159123	66	18687											
ADORA2A	135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24829496	24829496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr22:24829496delA	ENST00000337539.7	+	2	583	c.124delA	c.(124-126)aacfs	p.N42fs	ADORA2A-AS1_ENST00000326341.4_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A_ENST00000496497.1_Intron	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	42					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GAACGTCACCAACTACTTTGT	0.617																																																0													171	109	130					22																	24829496		2203	4300	6503	SO:0001589	frameshift_variant	135			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.124delA	22.37:g.24829496delA	ENSP00000336630:p.Asn42fs		B2R7E0	Frame_Shift_Del	DEL	ENST00000337539.7	37	CCDS13826.1																																																																																				0.617	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		-	24829496	A	-	24829496	7	5	311	1	0	1	0	1	0	0	0	0	327	130	5	0	126	0	ADORA2A	22	24829496	Frame_Shift_Del	DEL	A	TCGA-BP-4161-01A-02D-1386-10		24829496	26475070	67	18688											
ADRBK2	157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	26114290	26114290	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr22:26114290G>T	ENST00000324198.6	+	19	1925	c.1733G>T	c.(1732-1734)cGt>cTt	p.R578L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	578	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.R578L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CAGTGGCAGCGTCGCTATTTT	0.483																																																1	Substitution - Missense(1)	kidney(1)											126	125	125					22																	26114290		2203	4300	6503	SO:0001583	missense	157			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1733G>T	22.37:g.26114290G>T	ENSP00000317578:p.Arg578Leu		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370886	0.82573	.	.	ENSG00000100077	ENST00000324198	T	0.76709	-1.04	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	L	0.34521	1.04	0.80722	D	1	P	0.40211	0.707	B	0.40565	0.333	T	0.76451	-0.2954	10	0.66056	D	0.02	-11.4691	18.3039	0.90174	0.0:0.0:1.0:0.0	.	578	P35626	ARBK2_HUMAN	L	578	ENSP00000317578:R578L	ENSP00000317578:R578L	R	+	2	0	ADRBK2	24444290	1.000000	0.71417	0.951000	0.38953	0.988000	0.76386	8.820000	0.92003	2.635000	0.89317	0.655000	0.94253	CGT		0.483	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		T	26114290	G	T	26114290	3	4	311	1	0	0	0	0	1	0	0	0	344	1145	40	4	1807	4	ADRBK2	22	26114290	Missense_Mutation	SNP	G	TCGA-BP-4161-01A-02D-1386-10	1284794	26114290	25190276	68	18689											
ARSE	415	broad.mit.edu	37	X	2856294	2856294	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chrX:2856294delC	ENST00000381134.3	-	9	1197	c.1131delG	c.(1129-1131)gggfs	p.G377fs	ARSE_ENST00000540563.1_Frame_Shift_Del_p.G332fs|ARSE_ENST00000545496.1_Frame_Shift_Del_p.G402fs	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	377					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCATGCCCTTCCCACCTGGGT	0.547																																																0													21	22	22					X																	2856294		2199	4295	6494	SO:0001589	frameshift_variant	415			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1131delG	X.37:g.2856294delC	ENSP00000370526:p.Gly377fs		Q53FT2|Q53FU8	Frame_Shift_Del	DEL	ENST00000381134.3	37	CCDS14122.1																																																																																				0.547	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		-	2856294	C	-	2856294	7	5	311	1	0	1	0	1	0	0	0	0	990	842	30	0	650	0	ARSE	23	2856294	Frame_Shift_Del	DEL	C	TCGA-BP-4161-01A-02D-1386-10		2856294	152414266	69	18690											
AMELX	265	broad.mit.edu	37	X	11316960	11316960	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chrX:11316960T>C	ENST00000380714.3	+	5	505	c.437T>C	c.(436-438)gTg>gCg	p.V146A	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.V160A|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.V130A|ARHGAP6_ENST00000380732.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	146					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)	p.V160A(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAGCCACCTGTGCACCCCATG	0.667																																																1	Substitution - Missense(1)	kidney(1)											59	50	53					X																	11316960		2203	4300	6503	SO:0001583	missense	265				CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"amelogenesis imperfecta 1"	300391	"amelogenin (X chromosome, amelogenesis imperfecta 1)"	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.437T>C	X.37:g.11316960T>C	ENSP00000370090:p.Val146Ala		Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	T	2.777	-0.254467	0.05829	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.89270	-2.49;-2.49;-2.49	4.79	3.62	0.41486	.	0.631229	0.14503	N	0.315591	T	0.80160	0.4572	L	0.54323	1.7	0.20074	N	0.999936	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.62129	-0.6919	10	0.06236	T	0.91	2.5312	1.2421	0.01965	0.1836:0.1036:0.1872:0.5256	.	130;146;160	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	A	146;160;130	ENSP00000370090:V146A;ENSP00000370088:V160A;ENSP00000335312:V130A	ENSP00000335312:V130A	V	+	2	0	AMELX	11226881	0.618000	0.27051	0.845000	0.33349	0.962000	0.63368	0.826000	0.27407	1.712000	0.51347	0.339000	0.21740	GTG		0.667	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		C	11316960	T	C	11316960	3	2	311	1	0	0	0	0	1	0	0	0	569	1696	59	3	497	3	AMELX	23	11316960	Missense_Mutation	SNP	T	TCGA-BP-4161-01A-02D-1386-10	8460666	11316960	143953600	70	18691											
MED14	9282	broad.mit.edu;hgsc.bcm.edu	37	X	40573155	40573155	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chrX:40573155T>C	ENST00000324817.1	-	5	645	c.527A>G	c.(526-528)aAa>aGa	p.K176R		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	176					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.K176R(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGAATAATTTTGTCCTGCAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											125	125	125					X																	40573155		2203	4300	6503	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.527A>G	X.37:g.40573155T>C	ENSP00000323720:p.Lys176Arg		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	T	8.459	0.854871	0.17106	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	N	0.02111	-0.68	0.80722	D	1	B	0.20164	0.042	B	0.17098	0.017	T	0.22591	-1.0212	9	0.06891	T	0.86	.	14.7892	0.69827	0.0:0.0:0.0:1.0	.	176	O60244	MED14_HUMAN	R	176	.	ENSP00000323720:K176R	K	-	2	0	MED14	40458099	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.652000	0.83633	1.874000	0.54306	0.441000	0.28932	AAA		0.343	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		C	40573155	T	C	40573155	3	2	311	1	0	0	0	0	1	0	0	0	9434	1841	64	3	3945	3	MED14	23	40573155	Missense_Mutation	SNP	T	TCGA-BP-4161-01A-02D-1386-10	29256195	40573155	114697405	71	18692											
VHL	7428	hgsc.bcm.edu	37	3	10183817	10183817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02W-1382-10	TCGA-BP-4161-11A-01W-1244-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	13124411-f98d-4603-8022-2e0fd44ae880	63cd168a-94e8-4ee0-96ca-db4199aa6b73	g.chr3:10183817C>T	ENST00000256474.2	+	1	1126	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	VHL_ENST00000345392.2_Nonsense_Mutation_p.Q96*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	96			Missing (in VHLD; type I).|Q -> P (in VHLD; type I). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q96*(7)|p.P95_P99del(1)|p.E94fs*62(1)|p.R60fs*35(1)|p.E94fs*34(1)|p.Q96fs*36(1)|p.Q96del(1)|p.Q96fs*63(1)|p.P95fs*59(1)|p.Q96fs*61(1)|p.Q96fs*65(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGGCGAGCCGCAGCCCTACCC	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Substitution - Nonsense(7)|Deletion - Frameshift(6)|Deletion - In frame(2)|Insertion - Frameshift(2)	kidney(16)|soft_tissue(1)	GRCh37	CM982002	VHL	M							13	15	14					3																	10183817		1792	3692	5484	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.286C>T	3.37:g.10183817C>T	ENSP00000256474:p.Gln96*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	36	5.615161	0.96649	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.16	4.19	0.49359	.	0.335703	0.32055	N	0.006651	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7234	14.0258	0.64584	0.1615:0.8385:0.0:0.0	.	.	.	.	X	96	.	ENSP00000256474:Q96X	Q	+	1	0	VHL	10158817	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.360000	0.44151	2.416000	0.81992	0.550000	0.68814	CAG		0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183817	C	T	10183817	4	4	312	1	0	0	0	0	0	1	0	0	17167	711	25	2	288	2	VHL	3	10183817	Nonsense_Mutation	SNP	C	TCGA-BP-4161-01A-02W-1382-10		10183817	187838613	1	18693											
AGRN	375790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	981443	981443	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:981443C>G	ENST00000379370.2	+	16	2830	c.2780C>G	c.(2779-2781)aCc>aGc	p.T927S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	927	Kazal-like 9. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.T927S(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGATGCTCACCTGTCCAGAG	0.637																																																1	Substitution - Missense(1)	kidney(1)											162	156	158					1																	981443		2203	4300	6503	SO:0001583	missense	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2780C>G	1.37:g.981443C>G	ENSP00000368678:p.Thr927Ser		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608935	0.28623	.	.	ENSG00000188157	ENST00000379370	T	0.74421	-0.84	5.6	4.59	0.56863	Proteinase inhibitor I1, Kazal (1);	0.779782	0.11307	N	0.577583	T	0.59676	0.2211	N	0.16708	0.43	0.09310	N	1	P	0.48640	0.913	P	0.45232	0.474	T	0.52041	-0.8628	10	0.49607	T	0.09	-8.1959	4.2894	0.10870	0.0:0.7533:0.0:0.2467	.	927	O00468	AGRIN_HUMAN	S	927	ENSP00000368678:T927S	ENSP00000368678:T927S	T	+	2	0	AGRN	971306	0.024000	0.19004	0.108000	0.21378	0.064000	0.16182	2.628000	0.46477	2.636000	0.89361	0.655000	0.94253	ACC		0.637	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		G	981443	C	G	981443	3	3	313	1	0	0	0	0	1	0	0	0	397	507	18	4	2842	4	AGRN	1	981443	Missense_Mutation	SNP	C	TCGA-BP-4162-01A-02D-1386-10		981443	248269178	1	18694											
RAP1A	5906	hgsc.bcm.edu;ucsc.edu	37	1	112247019	112247019	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:112247019delG	ENST00000369709.3	+	6	558	c.379delG	c.(379-381)ggcfs	p.G127fs	RAP1A_ENST00000545460.1_Frame_Shift_Del_p.G127fs|RAP1A_ENST00000356415.1_Frame_Shift_Del_p.G127fs|RAP1A_ENST00000436150.2_Frame_Shift_Del_p.G127fs|RAP1A_ENST00000494982.1_3'UTR	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	127					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GCGAGTAGTTGGCAAAGAGCA	0.383																																																0													107	100	102					1																	112247019		2203	4300	6503	SO:0001589	frameshift_variant	5906			BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.379delG	1.37:g.112247019delG	ENSP00000358723:p.Gly127fs		P10113	Frame_Shift_Del	DEL	ENST00000369709.3	37	CCDS840.1																																																																																				0.383	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1	NM_002884		-	112247019	G	-	112247019	7	5	313	1	0	1	0	1	0	0	0	0	13041	1348	47	0	397	0	RAP1A	1	112247019	Frame_Shift_Del	DEL	G	TCGA-BP-4162-01A-02D-1386-10	111265576	112247019	137003602	2	18695											
DCST1	149095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155014062	155014062	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:155014062G>C	ENST00000295542.1	+	7	817	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	DCST1_ENST00000392480.1_Missense_Mutation_p.E241Q|DCST1_ENST00000423025.2_Missense_Mutation_p.E216Q|DCST1_ENST00000368419.2_Missense_Mutation_p.E241Q	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	241						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E241Q(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAAGATGTATGAGCTGAAGAC	0.617																																																1	Substitution - Missense(1)	kidney(1)											63	64	64					1																	155014062		2203	4300	6503	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.721G>C	1.37:g.155014062G>C	ENSP00000295542:p.Glu241Gln		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528395	0.27299	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.27	4.27	0.50696	.	0.557749	0.15882	N	0.239998	T	0.44973	0.1319	M	0.63428	1.95	0.28315	N	0.922507	P;D;P	0.63880	0.92;0.993;0.92	B;P;B	0.54590	0.255;0.756;0.255	T	0.27571	-1.0070	10	0.30854	T	0.27	-28.9646	8.2348	0.31620	0.1075:0.0:0.8925:0.0	.	216;266;241	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	Q	241;241;216;241	ENSP00000295542:E241Q;ENSP00000376271:E241Q;ENSP00000387369:E216Q;ENSP00000357404:E241Q	ENSP00000295542:E241Q	E	+	1	0	DCST1	153280686	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	3.931000	0.56529	2.387000	0.81309	0.462000	0.41574	GAG		0.617	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		C	155014062	G	C	155014062	3	2	313	1	0	0	0	0	1	0	0	0	4304	1291	45	4	743	4	DCST1	1	155014062	Missense_Mutation	SNP	G	TCGA-BP-4162-01A-02D-1386-10	42767043	155014062	94236559	3	18696											
YOD1	55432	hgsc.bcm.edu;ucsc.edu	37	1	207222973	207222977	+	Frame_Shift_Del	DEL	GCAAA	GCAAA	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	GCAAA	GCAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:207222973_207222977delGCAAA	ENST00000315927.4	-	2	481_485	c.435_439delTTTGC	c.(433-441)actttgcctfs	p.LP146fs	YOD1_ENST00000391927.1_Frame_Shift_Del_p.LP102fs|PFKFB2_ENST00000411990.2_Intron|YOD1_ENST00000367084.1_Frame_Shift_Del_p.LP102fs	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	146					cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					GTAAGCACAGGCAAAGTTTCCCTGA	0.478																																																0																																										SO:0001589	frameshift_variant	55432				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.435_439delTTTGC	1.37:g.207222973_207222977delGCAAA	ENSP00000326813:p.Leu146fs		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Frame_Shift_Del	DEL	ENST00000315927.4	37	CCDS31002.1																																																																																				0.478	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		-	207222977	GCAAA	-	207222973	7	5	313	1	0	1	0	1	0	0	0	0	17493	1203	42	0	611	0	YOD1	1	207222973	Frame_Shift_Del	DEL	GCAAA	TCGA-BP-4162-01A-02D-1386-10	52208911	207222973	42027648	4	18697											
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237791209	237791209	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:237791209G>A	ENST00000366574.2	+	41	6586	c.6269G>A	c.(6268-6270)cGg>cAg	p.R2090Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R2088Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R2074Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2090	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R2088Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCTCCATCGGCAGTATGAC	0.557																																																1	Substitution - Missense(1)	kidney(1)											73	72	72					1																	237791209		1981	4151	6132	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6269G>A	1.37:g.237791209G>A	ENSP00000355533:p.Arg2090Gln		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822115	0.90873	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98474	-4.95;-4.93;-4.95	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000016	D	0.99105	0.9692	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.99433	1.0936	10	0.62326	D	0.03	.	19.0363	0.92980	0.0:0.0:1.0:0.0	.	2090	Q92736	RYR2_HUMAN	Q	2090;2088;2074	ENSP00000355533:R2090Q;ENSP00000353174:R2088Q;ENSP00000443798:R2074Q	ENSP00000353174:R2088Q	R	+	2	0	RYR2	235857832	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.811000	0.86092	2.571000	0.86741	0.591000	0.81541	CGG		0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237791209	G	A	237791209	3	1	313	1	0	0	0	0	1	0	0	0	13775	1116	39	1	6431	1	RYR2	1	237791209	Missense_Mutation	SNP	G	TCGA-BP-4162-01A-02D-1386-10	30568236	237791209	11459412	5	18698											
OR2T12	127064	broad.mit.edu	37	1	248458511	248458511	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:248458511C>A	ENST00000317996.1	-	1	369	c.370G>T	c.(370-372)Gtc>Ttc	p.V124F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V124F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGGTGGCAGACAGCCGCATAG	0.617																																																1	Substitution - Missense(1)	kidney(1)											9	10	9					1																	248458511		2150	4219	6369	SO:0001583	missense	127064			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.370G>T	1.37:g.248458511C>A	ENSP00000324583:p.Val124Phe			Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.816818	0.50633	.	.	ENSG00000177201	ENST00000317996	T	0.49720	0.77	1.55	-0.996	0.10218	GPCR, rhodopsin-like superfamily (1);	0.539931	0.13808	U	0.361336	T	0.58395	0.2119	M	0.80746	2.51	0.33637	D	0.606824	D	0.56287	0.975	P	0.58210	0.835	T	0.65376	-0.6183	10	0.87932	D	0	.	5.5049	0.16848	0.0:0.221:0.0:0.779	.	124	Q8NG77	O2T12_HUMAN	F	124	ENSP00000324583:V124F	ENSP00000324583:V124F	V	-	1	0	OR2T12	246525134	0.823000	0.29233	0.022000	0.16811	0.124000	0.20399	1.540000	0.36115	-0.207000	0.10187	0.175000	0.17021	GTC		0.617	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		A	248458511	C	A	248458511	3	1	313	1	0	0	0	0	1	0	0	0	11021	478	17	4	595	4	OR2T12	1	248458511	Missense_Mutation	SNP	C	TCGA-BP-4162-01A-02D-1386-10	10667302	248458511	792110	6	18699											
SH3BP5L	80851	broad.mit.edu	37	1	249106452	249106452	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:249106452C>T	ENST00000366472.5	-	7	2058	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.G245R	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	277								p.G277R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCAGACCCCCGCGGCGCCGT	0.692																																																1	Substitution - Missense(1)	kidney(1)											28	31	30					1																	249106452		2203	4300	6503	SO:0001583	missense	80851			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.829G>A	1.37:g.249106452C>T	ENSP00000355428:p.Gly277Arg		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	2.609	-0.291276	0.05568	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	.	.	.	0.427	0.427	0.16489	.	0.125966	0.53938	D	0.000057	T	0.29288	0.0729	L	0.34521	1.04	0.31456	N	0.67015	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.23868	-1.0176	8	0.15952	T	0.53	-38.8819	.	.	.	.	245;170;277;135	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	R	277;245	.	ENSP00000355428:G277R	G	-	1	0	SH3BP5L	247073075	0.974000	0.33945	0.991000	0.47740	0.509000	0.34042	0.441000	0.21611	0.458000	0.26988	0.467000	0.42956	GGG		0.692	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		T	249106452	C	T	249106452	3	4	313	1	0	0	0	0	1	0	0	0	14254	652	23	1	356	1	SH3BP5L	1	249106452	Missense_Mutation	SNP	C	TCGA-BP-4162-01A-02D-1386-10	647941	249106452	144169	7	18700											
INHBB	3625	hgsc.bcm.edu	37	2	121107175	121107176	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr2:121107175_121107176insG	ENST00000295228.3	+	2	995_996	c.949_950insG	c.(949-951)tggfs	p.W317fs		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	317					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CCTCATCGGCTGGAACGACTGG	0.624																																																0																																										SO:0001589	frameshift_variant	3625				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"Endogenous ligands"	6067	protein-coding gene	gene with protein product		147390	"inhibin, beta B (activin AB beta polypeptide)"			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.951dupG	2.37:g.121107177_121107177dupG	ENSP00000295228:p.Trp317fs		Q53T31|Q8N1D3	Frame_Shift_Ins	INS	ENST00000295228.3	37	CCDS2132.1																																																																																				0.624	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			G	121107176	-	G	121107175	7	5	313	1	0	1	1	0	0	0	0	0	7744	1580	55	0	955	0	INHBB	2	121107175	Frame_Shift_Ins	INS	-	TCGA-BP-4162-01A-02D-1386-10		121107175	122092198	8	18701											
ITGA6	3655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	173354250	173354250	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr2:173354250C>A	ENST00000264106.6	+	21	2863	c.2660C>A	c.(2659-2661)aCa>aAa	p.T887K	ITGA6_ENST00000409532.1_Missense_Mutation_p.T729K|ITGA6_ENST00000343713.4_Missense_Mutation_p.T843K|ITGA6_ENST00000409080.1_Missense_Mutation_p.T848K|ITGA6_ENST00000264107.7_Missense_Mutation_p.T848K|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Missense_Mutation_p.T887K			P23229	ITA6_HUMAN	integrin, alpha 6	887					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.T848K(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AACCTCGGCACAGCAACCTTG	0.343																																																2	Substitution - Missense(2)	kidney(2)											91	93	92					2																	173354250		2203	4300	6503	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2660C>A	2.37:g.173354250C>A	ENSP00000264106:p.Thr887Lys		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	C	14.19	2.461787	0.43736	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.36	5.36	0.76844	.	0.142523	0.64402	D	0.000008	T	0.43567	0.1253	L	0.53729	1.69	0.49687	D	0.999812	B;B;B;B	0.11235	0.001;0.004;0.002;0.002	B;B;B;B	0.17979	0.004;0.008;0.008;0.02	T	0.25117	-1.0141	10	0.38643	T	0.18	.	19.1083	0.93305	0.0:1.0:0.0:0.0	.	843;887;848;848	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	K	729;848;887;887;843;848;887;843	ENSP00000386614:T729K;ENSP00000264107:T848K;ENSP00000264106:T887K;ENSP00000364369:T887K;ENSP00000341078:T843K;ENSP00000386896:T848K;ENSP00000406694:T887K;ENSP00000394169:T843K	ENSP00000264106:T887K	T	+	2	0	ITGA6	173062496	0.001000	0.12720	0.999000	0.59377	0.989000	0.77384	0.725000	0.25970	2.520000	0.84964	0.591000	0.81541	ACA		0.343	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				A	173354250	C	A	173354250	3	1	313	1	0	0	0	0	1	0	0	0	7882	478	17	4	2621	4	ITGA6	2	173354250	Missense_Mutation	SNP	C	TCGA-BP-4162-01A-02D-1386-10	52247075	173354250	69845123	9	18702											
USP4	7375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49373006	49373006	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr3:49373006A>C	ENST00000265560.4	-	2	171	c.125T>G	c.(124-126)tTc>tGc	p.F42C	USP4_ENST00000351842.4_Missense_Mutation_p.F42C|USP4_ENST00000415188.1_Missense_Mutation_p.F42C|USP4_ENST00000416417.1_Missense_Mutation_p.F42C	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	42	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.|Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F42C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CCACTGCTTGAACCACCGGCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											120	109	113					3																	49373006		2203	4300	6503	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.125T>G	3.37:g.49373006A>C	ENSP00000265560:p.Phe42Cys		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230032	0.79688	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.42131	1.67;1.7;0.98	5.01	5.01	0.66863	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77822	-0.2445	10	0.87932	D	0	-18.5847	12.9626	0.58466	1.0:0.0:0.0:0.0	.	42;42	Q13107-2;Q13107	.;UBP4_HUMAN	C	42	ENSP00000341028:F42C;ENSP00000265560:F42C;ENSP00000400623:F42C	ENSP00000265560:F42C	F	-	2	0	USP4	49348010	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.726000	0.91474	2.007000	0.58848	0.379000	0.24179	TTC		0.413	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		C	49373006	A	C	49373006	3	2	313	1	0	0	0	0	1	0	0	0	17076	246	9	5	2850	5	USP4	3	49373006	Missense_Mutation	SNP	A	TCGA-BP-4162-01A-02D-1386-10		49373006	148649424	10	18703											
CDH12	1010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	21751935	21751935	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr5:21751935C>A	ENST00000382254.1	-	15	3382	c.2296G>T	c.(2296-2298)Gac>Tac	p.D766Y	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.D766Y|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.D726Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	766					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D766Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTCAGATAGTCATAGTCCTGG	0.507										HNSCC(59;0.17)																																						1	Substitution - Missense(1)	kidney(1)											115	110	111					5																	21751935		2203	4300	6503	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2296G>T	5.37:g.21751935C>A	ENSP00000371689:p.Asp766Tyr		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657686	0.47467	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.81078	-1.45;-1.45;-1.45	5.18	4.29	0.51040	Cadherin, cytoplasmic domain (1);	0.197880	0.52532	D	0.000071	D	0.91429	0.7295	H	0.95780	3.72	0.41747	D	0.989643	D;P	0.54964	0.969;0.911	D;P	0.63192	0.912;0.583	D	0.93193	0.6585	10	0.87932	D	0	.	12.4482	0.55664	0.0:0.9162:0.0:0.0838	.	726;766	B7Z2U6;P55289	.;CAD12_HUMAN	Y	766;766;726	ENSP00000423577:D766Y;ENSP00000371689:D766Y;ENSP00000428786:D726Y	ENSP00000371689:D766Y	D	-	1	0	CDH12	21787692	1.000000	0.71417	0.701000	0.30321	0.703000	0.40648	4.052000	0.57420	1.137000	0.42214	0.467000	0.42956	GAC		0.507	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		A	21751935	C	A	21751935	3	1	313	1	0	0	0	0	1	0	0	0	3100	826	29	4	92	4	CDH12	5	21751935	Missense_Mutation	SNP	C	TCGA-BP-4162-01A-02D-1386-10		21751935	159163325	11	18704											
ZBED3	84327	broad.mit.edu	37	5	76373057	76373058	+	In_Frame_Ins	INS	-	-	GCG			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr5:76373057_76373058insGCG	ENST00000255198.2	-	3	1010_1011	c.646_647insCGC	c.(646-648)ctc>cCGCtc	p.215_216insP	CTC-564N23.2_ENST00000512650.1_RNA|ZBED3_ENST00000505685.1_5'Flank	NM_032367.2	NP_115743.1	Q96IU2	ZBED3_HUMAN	zinc finger, BED-type containing 3	215					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_lung(232;0.00645)|Lung NSC(167;0.0135)|Ovarian(174;0.0798)|Prostate(461;0.121)		OV - Ovarian serous cystadenocarcinoma(54;2.24e-51)|Epithelial(54;9.06e-46)|all cancers(79;2.48e-41)		GTCGTCCTTGAGCGGCGGCGGC	0.733																																																0																																										SO:0001652	inframe_insertion	84327			BC007239	CCDS4036.1	5q13.2	2013-05-03			ENSG00000132846	ENSG00000132846		"Zinc fingers, BED-type"	20711	protein-coding gene	gene with protein product		615250				23533661	Standard	NM_032367		Approved	MGC15435	uc003kev.1	Q96IU2	OTTHUMG00000102131	ENST00000255198.2:c.644_646dupCGC	5.37:g.76373064_76373066dupGCG	ENSP00000255198:p.Pro215_Pro215dup			In_Frame_Ins	INS	ENST00000255198.2	37	CCDS4036.1																																																																																				0.733	ZBED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219970.1	NM_032367		GCG	76373058	-	GCG	76373057	7	5	313	1	0	1	1	0	0	0	0	0	17524	304	11	0	61	0	ZBED3	5	76373057	In_Frame_Ins	INS	-	TCGA-BP-4162-01A-02D-1386-10	54621122	76373057	104542203	12	18705											
KIF3A	11127	hgsc.bcm.edu;ucsc.edu	37	5	132070046	132070062	+	Frame_Shift_Del	DEL	CCCCTCATCTCATCCAC	CCCCTCATCTCATCCAC	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	CCCCTCATCTCATCCAC	CCCCTCATCTCATCCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr5:132070046_132070062delCCCCTCATCTCATCCAC	ENST00000378746.4	-	2	333_349	c.115_131delGTGGATGAGATGAGGGG	c.(115-132)gtggatgagatgaggggafs	p.VDEMRG39fs	KIF3A_ENST00000403231.1_Frame_Shift_Del_p.VDEMRG39fs|KIF3A_ENST00000378735.1_Frame_Shift_Del_p.VDEMRG39fs	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	39	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.E41Q(1)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGATAGTTCCCCTCATCTCATCCACACTGACAGCC	0.415																																																1	Substitution - Missense(1)	pancreas(1)																																								SO:0001589	frameshift_variant	11127			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"Kinesins"	6319	protein-coding gene	gene with protein product	"kinesin family protein 3A"	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.115_131delGTGGATGAGATGAGGGG	5.37:g.132070046_132070062delCCCCTCATCTCATCCAC	ENSP00000368020:p.Val39fs		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Frame_Shift_Del	DEL	ENST00000378746.4	37	CCDS34235.1																																																																																				0.415	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		-	132070062	CCCCTCATCTCATCCAC	-	132070046	7	5	313	1	0	1	0	1	0	0	0	0	8302	855	30	0	2032	0	KIF3A	5	132070046	Frame_Shift_Del	DEL	CCCCTCATCTCATCCAC	TCGA-BP-4162-01A-02D-1386-10	55696989	132070046	48845214	13	18706											
SLC17A1	6568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	25830753	25830753	+	Splice_Site	SNP	T	T	C			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr6:25830753T>C	ENST00000244527.4	-	2	148	c.33A>G	c.(31-33)aaA>aaG	p.K11K	SLC17A1_ENST00000427328.1_Splice_Site_p.K11K|SLC17A1_ENST00000468082.1_Splice_Site_p.K11K|SLC17A1_ENST00000476801.1_Splice_Site_p.K11K	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	11					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.K11K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAGTGCTACCTTTTTTGGGAG	0.403																																																1	Substitution - coding silent(1)	kidney(1)											186	175	178					6																	25830753		2203	4300	6503	SO:0001630	splice_region_variant	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.34+1A>G	6.37:g.25830753T>C			A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Silent	SNP	ENST00000244527.4	37	CCDS4565.1																																																																																				0.403	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		Silent	C	25830753	T	C	25830753	5	2	313	1	0	0	0	0	0	0	1	0	14422	1623	56	3	1414	3	SLC17A1	6	25830753	Splice_Site	SNP	T	TCGA-BP-4162-01A-02D-1386-10		25830753	145284314	14	18707											
FAM200A	221786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99145777	99145777	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr7:99145777A>T	ENST00000449309.1	-	2	633	c.254T>A	c.(253-255)aTc>aAc	p.I85N		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	85						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.I85N(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						tgctggaaggataattttttc	0.378																																																1	Substitution - Missense(1)	kidney(1)											76	75	75					7																	99145777		2105	4071	6176	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.254T>A	7.37:g.99145777A>T	ENSP00000411372:p.Ile85Asn		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870815	0.51695	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.48201	0.82;0.82	2.58	2.58	0.30949	.	0.638626	0.12736	N	0.443408	T	0.51873	0.1700	L	0.34521	1.04	0.25042	N	0.991192	D	0.76494	0.999	D	0.74674	0.984	T	0.29579	-1.0007	10	0.39692	T	0.17	.	7.0471	0.25052	1.0:0.0:0.0:0.0	.	85	Q8TCP9	F200A_HUMAN	N	85	ENSP00000411372:I85N;ENSP00000386191:I85N	ENSP00000386191:I85N	I	-	2	0	FAM200A	98983713	1.000000	0.71417	0.983000	0.44433	0.951000	0.60555	2.096000	0.41738	1.422000	0.47177	0.533000	0.62120	ATC		0.378	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		T	99145777	A	T	99145777	3	4	313	1	0	0	0	0	1	0	0	0	5538	333	12	5	1471	5	FAM200A	7	99145777	Missense_Mutation	SNP	A	TCGA-BP-4162-01A-02D-1386-10		99145777	59992886	15	18708											
CUX1	1523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	101923413	101923413	+	Splice_Site	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr7:101923413G>T	ENST00000560541.1	+	19	2352		c.e19+1		CUX1_ENST00000425244.2_Splice_Site|CUX1_ENST00000393824.3_Splice_Site|CUX1_ENST00000547394.2_Splice_Site|CUX1_ENST00000437600.4_Splice_Site|CUX1_ENST00000292538.4_Splice_Site			P39880	CUX1_HUMAN	cut-like homeobox 1						auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGCAAGCGGGTTCGTGAGCC	0.677																																																1	Unknown(1)	kidney(1)											61	52	55					7																	101923413		2203	4300	6503	SO:0001630	splice_region_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000560541.1:c.2352+1G>T	7.37:g.101923413G>T			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000560541.1	37		.	.	.	.	.	.	.	.	.	.	g	16.45	3.127113	0.56721	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	.	.	.	3.33	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.197	0.73100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX1	101710133	1.000000	0.71417	0.989000	0.46669	0.551000	0.35334	6.961000	0.76042	1.870000	0.54199	0.556000	0.70494	.		0.677	CUX1-019	KNOWN	basic|exp_conf	processed_transcript	protein_coding	OTTHUMT00000418419.1	NM_001913	Intron	T	101923413	G	T	101923413	5	4	313	1	0	0	0	0	0	0	1	0	4066	1275	44	4	5209	4	CUX1	7	101923413	Splice_Site	SNP	G	TCGA-BP-4162-01A-02D-1386-10	2777636	101923413	57215250	16	18709											
WDR86	349136	broad.mit.edu;ucsc.edu	37	7	151092874	151092874	+	Silent	SNP	G	G	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr7:151092874G>A	ENST00000334493.6	-	3	1144	c.714C>T	c.(712-714)gtC>gtT	p.V238V	WDR86_ENST00000477459.1_Silent_p.V110V|WDR86_ENST00000463000.1_5'UTR|WDR86_ENST00000469830.2_Silent_p.V238V	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	238								p.V238V(2)|p.V110V(1)		breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGACAGATGACGGAGCCCC	0.687																																																3	Substitution - coding silent(3)	kidney(3)											19	21	20					7																	151092874		2161	4238	6399	SO:0001819	synonymous_variant	349136			AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"WD repeat domain containing"	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.714C>T	7.37:g.151092874G>A			B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Silent	SNP	ENST00000334493.6	37	CCDS5925.2																																																																																				0.687	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		A	151092874	G	A	151092874	2	1	313	1	0	0	0	0	0	0	0	1	17339	1277	45	2		2	WDR86	7	151092874	Silent	SNP	G	TCGA-BP-4162-01A-02D-1386-10	49169461	151092874	8045789	17	18710											
POLB	5423	hgsc.bcm.edu	37	8	42196541	42196541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr8:42196541delT	ENST00000265421.4	+	2	243	c.73delT	c.(73-75)tttfs	p.F25fs	POLB_ENST00000538005.1_Intron|POLB_ENST00000530566.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	25					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACTCGCAAACTTTGAGAAGAA	0.478								DNA polymerases (catalytic subunits)																																								0													111	89	97					8																	42196541		2203	4300	6503	SO:0001589	frameshift_variant	5423				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.73delT	8.37:g.42196541delT	ENSP00000265421:p.Phe25fs		B2RC78|Q3KP48|Q6FI34	Frame_Shift_Del	DEL	ENST00000265421.4	37	CCDS6129.1																																																																																				0.478	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		-	42196541	T	-	42196541	7	5	313	1	0	1	0	1	0	0	0	0	12191	1609	56	0	79	0	POLB	8	42196541	Frame_Shift_Del	DEL	T	TCGA-BP-4162-01A-02D-1386-10		42196541	104167481	18	18711											
MYO3A	53904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26377305	26377305	+	Silent	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr10:26377305G>T	ENST00000265944.5	+	15	1699	c.1533G>T	c.(1531-1533)ctG>ctT	p.L511L	MYO3A_ENST00000543632.1_Silent_p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	511	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L511L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATATCTCCTGGAAAAATCCC	0.343																																																1	Substitution - coding silent(1)	kidney(1)											61	63	62					10																	26377305		2203	4300	6503	SO:0001819	synonymous_variant	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1533G>T	10.37:g.26377305G>T			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																				0.343	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26377305	G	T	26377305	2	4	313	1	0	0	0	0	0	0	0	1	10078	1335	47	4		4	MYO3A	10	26377305	Silent	SNP	G	TCGA-BP-4162-01A-02D-1386-10		26377305	109157442	19	18712											
CASP7	840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	115489084	115489084	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr10:115489084A>T	ENST00000345633.4	+	8	1081	c.697A>T	c.(697-699)Agg>Tgg	p.R233W	CASP7_ENST00000369331.4_Silent_p.G221G|CASP7_ENST00000369321.2_Missense_Mutation_p.R266W|CASP7_ENST00000369318.3_Missense_Mutation_p.R233W|CASP7_ENST00000452490.2_Missense_Mutation_p.R208W|CASP7_ENST00000369315.1_Missense_Mutation_p.R233W	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	233					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.R266W(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		TTACTCGTGGAGGAGCCCAGG	0.502																																																1	Substitution - Missense(1)	kidney(1)											99	106	104					10																	115489084		2203	4300	6503	SO:0001583	missense	840			U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"Caspases"	1508	protein-coding gene	gene with protein product		601761	"caspase 7, apoptosis-related cysteine protease"			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.697A>T	10.37:g.115489084A>T	ENSP00000298701:p.Arg233Trp		B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	CCDS7581.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.042339	0.75732	.	.	ENSG00000165806	ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369315;ENST00000452490	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.85	3.42	0.39159	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.041854	0.85682	D	0.000000	T	0.51550	0.1681	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.54463	-0.8290	9	0.87932	D	0	.	12.6428	0.56718	0.5987:0.4013:0.0:0.0	.	208;241;266;233	B4DQU7;B4DWA2;P55210-3;P55210	.;.;.;CASP7_HUMAN	W	266;233;233;194;233;208	ENSP00000358327:R266W;ENSP00000298701:R233W;ENSP00000358324:R233W;ENSP00000358321:R233W;ENSP00000398107:R208W	ENSP00000298701:R233W	R	+	1	2	CASP7	115479074	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.885000	0.56182	0.424000	0.26061	0.533000	0.62120	AGG		0.502	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		T	115489084	A	T	115489084	3	4	313	1	0	0	0	0	1	0	0	0	2678	295	11	5	900	5	CASP7	10	115489084	Missense_Mutation	SNP	A	TCGA-BP-4162-01A-02D-1386-10	89111779	115489084	20045663	20	18713											
DENND5A	23258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	9225842	9225842	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr11:9225842G>A	ENST00000328194.3	-	4	634	c.314C>T	c.(313-315)gCa>gTa	p.A105V	DENND5A_ENST00000530044.1_Missense_Mutation_p.A105V	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	105	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A105V(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTCTTGAATGCCAGCCCTTT	0.473																																																1	Substitution - Missense(1)	kidney(1)											58	57	58					11																	9225842		2201	4296	6497	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.314C>T	11.37:g.9225842G>A	ENSP00000328524:p.Ala105Val		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197902	0.79015	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.44083	0.93;0.93	5.57	5.57	0.84162	uDENN (3);	0.050138	0.85682	D	0.000000	T	0.34658	0.0905	N	0.03608	-0.345	0.80722	D	1	B;P	0.35575	0.271;0.51	B;P	0.45913	0.21;0.497	T	0.43410	-0.9393	10	0.44086	T	0.13	.	19.555	0.95342	0.0:0.0:1.0:0.0	.	105;105	E9PS91;Q6IQ26	.;DEN5A_HUMAN	V	105	ENSP00000328524:A105V;ENSP00000435866:A105V	ENSP00000328524:A105V	A	-	2	0	DENND5A	9182418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.640000	0.89533	0.655000	0.94253	GCA		0.473	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		A	9225842	G	A	9225842	3	1	313	1	0	0	0	0	1	0	0	0	4438	1319	46	2	3629	2	DENND5A	11	9225842	Missense_Mutation	SNP	G	TCGA-BP-4162-01A-02D-1386-10		9225842	125780674	21	18714											
OR5R1	219479	broad.mit.edu;ucsc.edu	37	11	56185258	56185258	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr11:56185258A>G	ENST00000312253.1	-	1	450	c.451T>C	c.(451-453)Tac>Cac	p.Y151H		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y151H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGGAAGCTGTATATATATGGA	0.453																																																1	Substitution - Missense(1)	kidney(1)											107	109	108					11																	56185258		2201	4296	6497	SO:0001583	missense	219479			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.451T>C	11.37:g.56185258A>G	ENSP00000308595:p.Tyr151His			Missense_Mutation	SNP	ENST00000312253.1	37	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775599	0.31411	.	.	ENSG00000174942	ENST00000312253	T	0.38077	1.16	5.91	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30269	U	0.010013	T	0.61739	0.2371	M	0.87269	2.87	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53725	-0.8398	10	0.40728	T	0.16	-15.5217	12.6112	0.56552	0.7648:0.2351:0.0:0.0	.	151	Q8NH85	OR5R1_HUMAN	H	151	ENSP00000308595:Y151H	ENSP00000308595:Y151H	Y	-	1	0	OR5R1	55941834	0.000000	0.05858	0.921000	0.36526	0.017000	0.09413	0.080000	0.14802	2.265000	0.75225	0.472000	0.43445	TAC		0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		G	56185258	A	G	56185258	3	3	313	1	0	0	0	0	1	0	0	0	11182	449	16	3	525	3	OR5R1	11	56185258	Missense_Mutation	SNP	A	TCGA-BP-4162-01A-02D-1386-10	46959416	56185258	78821258	22	18715											
CACNA2D4	93589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2022187	2022187	+	Splice_Site	SNP	A	A	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr12:2022187A>G	ENST00000382722.5	-	3	789		c.e3+1		CACNA2D4_ENST00000585708.1_Splice_Site|CACNA2D4_ENST00000588077.1_Splice_Site|CACNA2D4_ENST00000585732.1_Splice_Site|CACNA2D4_ENST00000586184.1_Splice_Site|CACNA2D4_ENST00000587995.1_Splice_Site	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4						calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.?(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGCCTGGAGTACCTGGACCGC	0.607																																					Colon(2;101 179 21030 23310 28141)											2	Unknown(2)	kidney(2)											99	115	109					12																	2022187		2133	4237	6370	SO:0001630	splice_region_variant	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.426+1T>C	12.37:g.2022187A>G			Q7Z3S8|Q86XZ5|Q8IZS9	Splice_Site	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.901097	0.33535	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.995	0.71425	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA2D4	1892448	1.000000	0.71417	0.834000	0.33040	0.013000	0.08279	8.806000	0.91930	2.022000	0.59522	0.529000	0.55759	.		0.607	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		Intron	G	2022187	A	G	2022187	5	3	313	1	0	0	0	0	0	0	1	0	2553	405	14	3	3129	3	CACNA2D4	12	2022187	Splice_Site	SNP	A	TCGA-BP-4162-01A-02D-1386-10		2022187	131829708	23	18716											
CASC1	55259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	25347862	25347862	+	Intron	SNP	G	G	C	rs201727120		TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr12:25347862G>C	ENST00000320267.9	-	1	85				LYRM5_ENST00000555711.1_5'Flank|CASC1_ENST00000354189.5_Silent_p.P45P|CASC1_ENST00000557684.1_Intron|CASC1_ENST00000537577.1_Intron|LYRM5_ENST00000556927.1_5'Flank|LYRM5_ENST00000381356.4_5'Flank|LYRM5_ENST00000556402.1_5'Flank|LYRM5_ENST00000556351.1_5'Flank|LYRM5_ENST00000557540.2_5'Flank|CASC1_ENST00000395987.3_Intron|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000395990.2_Intron|LYRM5_ENST00000556885.1_5'Flank|LYRM5_ENST00000554266.1_5'Flank|LYRM5_ENST00000553788.1_5'Flank	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1									p.P45P(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GCTGAGAAGAGGGCCGACCCA	0.498																																																1	Substitution - coding silent(1)	kidney(1)											67	68	68					12																	25347862		1891	4119	6010	SO:0001627	intron_variant	55259			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.3+147C>G	12.37:g.25347862G>C			B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Silent	SNP	ENST00000320267.9	37	CCDS41762.1																																																																																				0.498	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		C	25347862	G	C	25347862	1	2	313	0	1	0	0	0	0	0	0	0	2662	987	35	4		4	CASC1	12	25347862	Intron	SNP	G	TCGA-BP-4162-01A-02D-1386-10	23325675	25347862	108504033	24	18717											
RPS26	6231	broad.mit.edu;hgsc.bcm.edu	37	12	56436231	56436231	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr12:56436231G>A	ENST00000356464.5	+	2	340	c.26G>A	c.(25-27)gGt>gAt	p.G9D	RPS26_ENST00000552361.1_Missense_Mutation_p.G9D|RP11-603J24.4_ENST00000551846.1_RNA			P62854	RS26_HUMAN	ribosomal protein S26	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G9D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGAACAATGGTCGTGCCAAA	0.547																																																1	Substitution - Missense(1)	kidney(1)											48	44	45					12																	56436231		2203	4300	6503	SO:0001583	missense	6231			AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"S ribosomal proteins"	10414	protein-coding gene	gene with protein product	"40S ribosomal protein S26"	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.26G>A	12.37:g.56436231G>A	ENSP00000348849:p.Gly9Asp		P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Missense_Mutation	SNP	ENST00000356464.5	37	CCDS31832.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860181	0.91433	.	.	ENSG00000197728	ENST00000356464;ENST00000552361	D;D	0.95238	-3.65;-3.65	4.7	4.7	0.59300	.	0.000000	0.64402	U	0.000001	D	0.94558	0.8247	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.95441	0.8525	10	0.66056	D	0.02	.	16.9028	0.86117	0.0:0.0:1.0:0.0	.	9	P62854	RS26_HUMAN	D	9	ENSP00000348849:G9D;ENSP00000450339:G9D	ENSP00000348849:G9D	G	+	2	0	RPS26	54722498	1.000000	0.71417	0.910000	0.35882	0.584000	0.36387	9.209000	0.95087	2.589000	0.87451	0.563000	0.77884	GGT		0.547	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407616.1	NM_001029		A	56436231	G	A	56436231	3	1	313	1	0	0	0	0	1	0	0	0	13643	1261	44	2	32	2	RPS26	12	56436231	Missense_Mutation	SNP	G	TCGA-BP-4162-01A-02D-1386-10	31088369	56436231	77415664	25	18718											
C12orf51	283450	broad.mit.edu;hgsc.bcm.edu	37	12	112650409	112650409	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr12:112650409G>T	ENST00000430131.2	-	48	7390	c.6245C>A	c.(6244-6246)cCt>cAt	p.P2082H	HECTD4_ENST00000377560.5_Missense_Mutation_p.P2332H|HECTD4_ENST00000550722.1_Missense_Mutation_p.P2358H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2082					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P2332H(1)|p.P2082H(1)									TCCCGGAGGAGGTGGAGTCCC	0.527																																																2	Substitution - Missense(2)	kidney(2)											45	48	47					12																	112650409		1913	4141	6054	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6245C>A	12.37:g.112650409G>T	ENSP00000404379:p.Pro2082His		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.858261|4.858261	0.91433|0.91433	.|.	.|.	ENSG00000173064|ENSG00000173064	ENST00000550968|ENST00000377560;ENST00000430131;ENST00000550722	.|T;T;T	.|0.53857	.|0.6;0.61;0.6	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	T|T	0.60405|0.60405	0.2266|0.2266	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	T|T	0.66143|0.66143	-0.5997|-0.5997	5|9	.|0.87932	.|D	.|0	.|.	20.3325|20.3325	0.98724|0.98724	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2082	.|Q9Y4D8	.|K0614_HUMAN	I|H	249|2332;2082;2358	.|ENSP00000366783:P2332H;ENSP00000404379:P2082H;ENSP00000449784:P2358H	.|ENSP00000366783:P2332H	L|P	-|-	1|2	0|0	C12orf51|C12orf51	111134792|111134792	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.792000|0.792000	0.44763|0.44763	9.375000|9.375000	0.97178|0.97178	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.527	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112650409	G	T	112650409	3	4	313	1	0	0	0	0	1	0	0	0	1698	1000	35	4	5857	4	C12orf51	12	112650409	Missense_Mutation	SNP	G	TCGA-BP-4162-01A-02D-1386-10	56214178	112650409	21201486	26	18719											
GCN1L1	10985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120582805	120582805	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr12:120582805A>T	ENST00000300648.6	-	40	5089	c.5077T>A	c.(5077-5079)Ttt>Att	p.F1693I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1693					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.F1693I(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGTCCTCAAAGCACGACTCC	0.587																																																1	Substitution - Missense(1)	kidney(1)											83	89	87					12																	120582805		2173	4275	6448	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5077T>A	12.37:g.120582805A>T	ENSP00000300648:p.Phe1693Ile		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	34	5.342577	0.95783	.	.	ENSG00000089154	ENST00000300648	T	0.65178	-0.14	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.84082	2.675	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.83066	-0.0145	10	0.66056	D	0.02	.	15.9002	0.79369	1.0:0.0:0.0:0.0	.	1693	Q92616	GCN1L_HUMAN	I	1693	ENSP00000300648:F1693I	ENSP00000300648:F1693I	F	-	1	0	GCN1L1	119067188	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	9.043000	0.93799	2.219000	0.72066	0.533000	0.62120	TTT		0.587	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			T	120582805	A	T	120582805	3	4	313	1	0	0	0	0	1	0	0	0	6301	72	3	5	3014	5	GCN1L1	12	120582805	Missense_Mutation	SNP	A	TCGA-BP-4162-01A-02D-1386-10	7932396	120582805	13269090	27	18720											
C14orf102	55051	hgsc.bcm.edu;ucsc.edu	37	14	90754790	90754793	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	CACT	CACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr14:90754790_90754793delCACT	ENST00000354366.3	-	11	3158_3161	c.2926_2929delAGTG	c.(2926-2931)agtgttfs	p.SV976fs	NRDE2_ENST00000357904.3_Frame_Shift_Del_p.SV745fs	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	976																	AGCGGGTAAACACTCACTTTCATG	0.529																																																0																																										SO:0001589	frameshift_variant	0			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2926_2929delAGTG	14.37:g.90754794_90754797delCACT	ENSP00000346335:p.Ser976fs		B4DH71|Q4G0A7|Q9NWH6	Frame_Shift_Del	DEL	ENST00000354366.3	37	CCDS9890.1																																																																																				0.529	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		-	90754793	CACT	-	90754790	7	5	313	1	0	1	0	1	0	0	0	0	1737	478	17	0	581	0	C14orf102	14	90754790	Frame_Shift_Del	DEL	CACT	TCGA-BP-4162-01A-02D-1386-10		90754790	16594750	28	18721											
C14orf109	64112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	93652729	93652729	+	5'Flank	SNP	C	C	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr14:93652729C>T	ENST00000556883.1	-	0	0				RP11-371E8.4_ENST00000557048.1_Intron|MOAP1_ENST00000298894.4_5'Flank|TMEM251_ENST00000415050.2_Silent_p.L75L|TMEM251_ENST00000283534.4_Silent_p.L37L|RP11-371E8.4_ENST00000557574.1_Silent_p.L37L			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)	p.L75L(1)|p.L37L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		TTACAACAGGCTGGCCTTGGA	0.478																																																2	Substitution - coding silent(2)	kidney(2)											165	164	164					14																	93652729		1959	4148	6107	SO:0001631	upstream_gene_variant	0			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93652729C>T	Exception_encountered		B2RDF6|Q9H833|Q9HAS1	Silent	SNP	ENST00000556883.1	37	CCDS9908.1																																																																																				0.478	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			T	93652729	C	T	93652729	1	4	313	0	1	0	0	0	0	0	0	0	1741	796	28	2		2	C14orf109	14	93652729	5'Flank	SNP	C	TCGA-BP-4162-01A-02D-1386-10	2897939	93652729	13696811	29	18722											
AHNAK2	113146	hgsc.bcm.edu	37	14	105415666	105415666	+	Missense_Mutation	SNP	G	G	A	rs150446570	byFrequency	TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr14:105415666G>A	ENST00000333244.5	-	7	6241	c.6122C>T	c.(6121-6123)cCt>cTt	p.P2041L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2041						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGCAGAAGGGGGCTGAAT	0.657													.|||	1030	0.205671	0.0522	0.2767	5008	,	,		12622	0.0407		0.4135	False		,,,				2504	0.319															0													103	64	77					14																	105415666		1915	4022	5937	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6122C>T	14.37:g.105415666G>A	ENSP00000353114:p.Pro2041Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	15.40	2.821193	0.50633	.	.	ENSG00000185567	ENST00000333244	T	0.02032	4.49	3.87	3.87	0.44632	.	.	.	.	.	T	0.15046	0.0363	M	0.89030	3	0.25811	N	0.984398	D	0.89917	1.0	D	0.91635	0.999	T	0.04840	-1.0923	9	0.36615	T	0.2	-14.9447	14.4707	0.67514	0.0:0.0:1.0:0.0	.	2041	Q8IVF2	AHNK2_HUMAN	L	2041	ENSP00000353114:P2041L	ENSP00000353114:P2041L	P	-	2	0	AHNAK2	104486711	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.423000	0.02450	1.720000	0.51447	0.485000	0.47835	CCT		0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105415666	G	A	105415666	3	1	313	1	0	0	0	0	1	0	0	0	415	1000	35	2	11269	2	AHNAK2	14	105415666	Missense_Mutation	SNP	G	TCGA-BP-4162-01A-02D-1386-10	11762937	105415666	1933874	30	18723											
SPRED1	161742	broad.mit.edu	37	15	38632097	38632097	+	Splice_Site	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr15:38632097G>T	ENST00000299084.4	+	5	1442		c.e5+1			NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1						inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.?(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGCCAATCAGGTAAGAAGATA	0.383									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)											1	Unknown(1)	kidney(1)											78	80	79					15																	38632097		2200	4296	6496	SO:0001630	splice_region_variant	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.582+1G>T	15.37:g.38632097G>T			B2RPJ8|Q05D53|Q8N256	Splice_Site	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128272	0.56721	.	.	ENSG00000166068	ENST00000299084	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.402	0.83643	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPRED1	36419389	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	6.258000	0.72487	2.370000	0.80446	0.585000	0.79938	.		0.383	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1		Intron	T	38632097	G	T	38632097	5	4	313	1	0	0	0	0	0	0	1	0	15097	1275	44	4	601	4	SPRED1	15	38632097	Splice_Site	SNP	G	TCGA-BP-4162-01A-02D-1386-10		38632097	63899295	31	18724											
FEM1B	10116	hgsc.bcm.edu;ucsc.edu	37	15	68582267	68582267	+	Silent	SNP	T	T	C			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr15:68582267T>C	ENST00000306917.4	+	2	1186	c.571T>C	c.(571-573)Ttg>Ctg	p.L191L		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	191					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AGCCACAGCATTGCACTTTGC	0.463																																																0													73	63	67					15																	68582267		2200	4298	6498	SO:0001819	synonymous_variant	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.571T>C	15.37:g.68582267T>C			O43146	Silent	SNP	ENST00000306917.4	37	CCDS10228.1																																																																																				0.463	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			C	68582267	T	C	68582267	2	2	313	1	0	0	0	0	0	0	0	1	5812	1490	52	3		3	FEM1B	15	68582267	Silent	SNP	T	TCGA-BP-4162-01A-02D-1386-10	29950170	68582267	33949125	32	18725											
MYO18A	399687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27438794	27438794	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr17:27438794T>C	ENST00000527372.1	-	16	2866	c.2686A>G	c.(2686-2688)Acc>Gcc	p.T896A	MYO18A_ENST00000531253.1_Missense_Mutation_p.T896A|MYO18A_ENST00000354329.4_Missense_Mutation_p.T896A|MYO18A_ENST00000533112.1_Missense_Mutation_p.T896A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	896	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.T896A(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCAGGAGGGTGTCCTCACTG	0.592											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(182;472 2015 7001 15270 22562)											2	Substitution - Missense(2)	kidney(2)											37	44	42					17																	27438794		1893	4103	5996	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2686A>G	17.37:g.27438794T>C	ENSP00000437073:p.Thr896Ala	794	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393675	0.25205	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.42	-10.8	0.00216	Myosin head, motor domain (2);	0.497841	0.23821	N	0.044228	T	0.79076	0.4385	M	0.62154	1.92	0.09310	N	0.999994	B;B;B;B;B	0.10296	0.001;0.001;0.003;0.001;0.001	B;B;B;B;B	0.12837	0.004;0.002;0.007;0.006;0.008	T	0.50742	-0.8792	10	0.30078	T	0.28	.	12.7293	0.57189	0.0749:0.4563:0.0:0.4688	.	565;508;896;896;896	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	A	896;896;896;896;896;508	ENSP00000346291:T896A;ENSP00000435932:T896A;ENSP00000434228:T896A;ENSP00000437073:T896A	ENSP00000346291:T896A	T	-	1	0	MYO18A	24462920	0.000000	0.05858	0.006000	0.13384	0.793000	0.44817	-0.347000	0.07750	-2.642000	0.00428	-2.040000	0.00418	ACC		0.592	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		C	27438794	T	C	27438794	3	2	313	1	0	0	0	0	1	0	0	0	10067	1696	59	3	3586	3	MYO18A	17	27438794	Missense_Mutation	SNP	T	TCGA-BP-4162-01A-02D-1386-10		27438794	53756416	33	18726											
EFCAB5	374786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	28386632	28386632	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr17:28386632G>T	ENST00000394835.3	+	14	2842	c.2650G>T	c.(2650-2652)Gat>Tat	p.D884Y	RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.D884Y|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.D884Y	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	884	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.D884Y(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTGGGACAGTGATGGCTCAGG	0.413																																																1	Substitution - Missense(1)	kidney(1)											100	99	99					17																	28386632		1855	4098	5953	SO:0001583	missense	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2650G>T	17.37:g.28386632G>T	ENSP00000378312:p.Asp884Tyr		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575447	0.65878	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	T;T;T	0.35421	1.31;1.31;1.31	5.39	4.42	0.53409	EF-hand-like domain (1);	.	.	.	.	T	0.56171	0.1967	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.69479	0.964;0.891	T	0.59894	-0.7368	9	0.72032	D	0.01	-13.9765	11.7645	0.51922	0.0858:0.0:0.9142:0.0	.	884;884	B5MEA3;A4FU69	.;EFCB5_HUMAN	Y	884	ENSP00000378312:D884Y;ENSP00000378309:D884Y;ENSP00000368012:D884Y	ENSP00000368012:D884Y	D	+	1	0	EFCAB5	25410758	1.000000	0.71417	0.943000	0.38184	0.943000	0.58893	4.526000	0.60566	1.262000	0.44165	0.455000	0.32223	GAT		0.413	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		T	28386632	G	T	28386632	3	4	313	1	0	0	0	0	1	0	0	0	4940	1290	45	4	2704	4	EFCAB5	17	28386632	Missense_Mutation	SNP	G	TCGA-BP-4162-01A-02D-1386-10	947838	28386632	52808578	34	18727											
RDM1	201299	broad.mit.edu;hgsc.bcm.edu	37	17	34257122	34257122	+	Missense_Mutation	SNP	C	C	G	rs145918765		TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr17:34257122C>G	ENST00000293273.6	-	2	279	c.234G>C	c.(232-234)aaG>aaC	p.K78N	RDM1_ENST00000394529.3_Missense_Mutation_p.K55N|RDM1_ENST00000394527.1_Missense_Mutation_p.K55N|RDM1_ENST00000394528.3_Missense_Mutation_p.K78N|RDM1_ENST00000430160.2_Missense_Mutation_p.K55N|RDM1_ENST00000419453.2_Missense_Mutation_p.K55N|RDM1_ENST00000431884.2_Missense_Mutation_p.K78N|RDM1_ENST00000591402.1_Missense_Mutation_p.K55N|RDM1_ENST00000425909.3_Missense_Mutation_p.K78N	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	78	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K78N(2)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGTCGCATGCCTTTTGGGCTC	0.473								Other identified genes with known or suspected DNA repair function																																								2	Substitution - Missense(2)	kidney(2)											113	124	120					17																	34257122		2203	4300	6503	SO:0001583	missense	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"RNA binding motif (RRM) containing"	19950	protein-coding gene	gene with protein product		612896	"RAD52 homolog B (S. cerevisiae)", "RAD52 motif 1"	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.234G>C	17.37:g.34257122C>G	ENSP00000293273:p.Lys78Asn		A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	ENST00000293273.6	37	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294912	0.23564	.	.	ENSG00000187456	ENST00000293273;ENST00000394529;ENST00000431884;ENST00000425909;ENST00000436836;ENST00000430160;ENST00000394528;ENST00000394527	T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	3.64	0.363	0.16118	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.386614	0.26352	N	0.024880	T	0.26412	0.0645	M	0.65975	2.015	0.09310	N	1	D;P;D;P;D;P;D;D;D	0.56287	0.968;0.646;0.96;0.763;0.96;0.914;0.968;0.975;0.96	P;B;P;B;P;B;P;P;P	0.57679	0.773;0.214;0.663;0.288;0.663;0.395;0.697;0.825;0.663	T	0.06023	-1.0850	10	0.49607	T	0.09	-0.08	5.0802	0.14653	0.0:0.6172:0.1734:0.2094	.	55;55;78;78;55;55;78;78;55	B4DZ74;Q8NG50-4;Q8NG50-5;Q8NG50-10;Q8NG50-2;Q8NG50-11;A8MY68;Q8NG50;Q8NG50-6	.;.;.;.;.;.;.;RDM1_HUMAN;.	N	78;55;78;78;78;55;78;55	ENSP00000293273:K78N;ENSP00000378037:K55N;ENSP00000391290:K78N;ENSP00000393620:K78N;ENSP00000397431:K78N;ENSP00000413421:K55N;ENSP00000378036:K78N;ENSP00000378035:K55N	ENSP00000293273:K78N	K	-	3	2	RDM1	31281235	0.002000	0.14202	0.000000	0.03702	0.210000	0.24377	-0.577000	0.05847	0.023000	0.15187	0.655000	0.94253	AAG		0.473	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		G	34257122	C	G	34257122	3	3	313	1	0	0	0	0	1	0	0	0	13203	680	24	4	688	4	RDM1	17	34257122	Missense_Mutation	SNP	C	TCGA-BP-4162-01A-02D-1386-10	5870490	34257122	46938088	35	18728											
ZNF350	59348	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52469415	52469415	+	Silent	SNP	C	C	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr19:52469415C>G	ENST00000243644.4	-	5	518	c.291G>C	c.(289-291)gtG>gtC	p.V97V	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	97					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V97V(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TCCTTCTGTTCACCAGGCTTT	0.358																																																1	Substitution - coding silent(1)	kidney(1)											66	67	66					19																	52469415		2203	4299	6502	SO:0001819	synonymous_variant	59348			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"Zinc fingers, C2H2-type", "-"	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.291G>C	19.37:g.52469415C>G			Q96G73|Q9HAQ4	Silent	SNP	ENST00000243644.4	37	CCDS12845.1																																																																																				0.358	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		G	52469415	C	G	52469415	2	3	313	1	0	0	0	0	0	0	0	1	17868	813	29	4		4	ZNF350	19	52469415	Silent	SNP	C	TCGA-BP-4162-01A-02D-1386-10		52469415	6659568	36	18729											
ZNF528	84436	hgsc.bcm.edu;ucsc.edu	37	19	52918713	52918715	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	ACC	ACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr19:52918713_52918715delACC	ENST00000360465.3	+	7	1034_1036	c.608_610delACC	c.(607-612)aaccaa>aaa	p.203_204NQ>K	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGCCTTACTAACCAAGTAATCCA	0.404																																																0																																										SO:0001651	inframe_deletion	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.608_610delACC	19.37:g.52918713_52918715delACC	ENSP00000353652:p.Asn203_Gln204delinsLys		B3KPN4|Q86T88|Q96JK0	In_Frame_Del	DEL	ENST00000360465.3	37	CCDS33091.1																																																																																				0.404	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		-	52918715	ACC	-	52918713	7	5	313	1	0	1	0	1	0	0	0	0	17974	43	2	0	622	0	ZNF528	19	52918713	In_Frame_Del	DEL	ACC	TCGA-BP-4162-01A-02D-1386-10	449298	52918713	6210270	37	18730											
ZIM3	114026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57646742	57646742	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr19:57646742A>T	ENST00000269834.1	-	5	1348	c.963T>A	c.(961-963)gaT>gaA	p.D321E	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D321E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTCACAAGATCTGACTTGT	0.408																																																1	Substitution - Missense(1)	kidney(1)											147	143	144					19																	57646742		2203	4300	6503	SO:0001583	missense	114026			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.963T>A	19.37:g.57646742A>T	ENSP00000269834:p.Asp321Glu		Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	A	9.455	1.091709	0.20471	.	.	ENSG00000141946	ENST00000269834	T	0.07327	3.2	2.61	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03564	0.0102	N	0.11131	0.1	0.09310	N	1	B	0.23735	0.09	B	0.29176	0.099	T	0.45991	-0.9223	9	0.02654	T	1	.	4.8052	0.13316	0.6956:0.0:0.3044:0.0	.	321	Q96PE6	ZIM3_HUMAN	E	321	ENSP00000269834:D321E	ENSP00000269834:D321E	D	-	3	2	ZIM3	62338554	0.000000	0.05858	0.858000	0.33744	0.639000	0.38242	-1.317000	0.02707	0.183000	0.20059	0.260000	0.18958	GAT		0.408	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			T	57646742	A	T	57646742	3	4	313	1	0	0	0	0	1	0	0	0	17690	330	12	5	459	5	ZIM3	19	57646742	Missense_Mutation	SNP	A	TCGA-BP-4162-01A-02D-1386-10	4728029	57646742	1482241	38	18731											
KIF3B	9371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30898421	30898421	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr20:30898421G>T	ENST00000375712.3	+	2	1008	c.841G>T	c.(841-843)Gct>Tct	p.A281S	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	281	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.A281S(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGTCATCTCTGCTCTAGTGGA	0.517																																																1	Substitution - Missense(1)	kidney(1)											91	85	87					20																	30898421		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.841G>T	20.37:g.30898421G>T	ENSP00000364864:p.Ala281Ser		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625510	0.66901	.	.	ENSG00000101350	ENST00000375712	T	0.76839	-1.05	4.52	4.52	0.55395	Kinesin, motor domain (3);	0.053679	0.64402	D	0.000001	D	0.83464	0.5260	L	0.53249	1.67	0.80722	D	1	B;P	0.39352	0.18;0.669	P;P	0.53549	0.538;0.729	D	0.84350	0.0532	10	0.52906	T	0.07	.	17.4488	0.87586	0.0:0.0:1.0:0.0	.	281;281	B4DYF2;O15066	.;KIF3B_HUMAN	S	281	ENSP00000364864:A281S	ENSP00000364864:A281S	A	+	1	0	KIF3B	30362082	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.753000	0.85153	2.336000	0.79503	0.462000	0.41574	GCT		0.517	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		T	30898421	G	T	30898421	3	4	313	1	0	0	0	0	1	0	0	0	8303	1319	46	4	843	4	KIF3B	20	30898421	Missense_Mutation	SNP	G	TCGA-BP-4162-01A-02D-1386-10		30898421	32127099	39	18732											
MAGED2	10916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54839919	54839919	+	Splice_Site	SNP	A	A	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chrX:54839919A>G	ENST00000375068.1	+	10	1441		c.e10-1		MAGED2_ENST00000218439.4_Splice_Site|MAGED2_ENST00000375058.1_Splice_Site|MAGED2_ENST00000375062.4_Splice_Site|MAGED2_ENST00000396224.1_Splice_Site|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000347546.4_Splice_Site|MAGED2_ENST00000375060.1_Splice_Site|MAGED2_ENST00000375053.2_Splice_Site			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2							membrane (GO:0016020)		p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TTCTTCTCTCAGGATACATCA	0.408																																																1	Unknown(1)	kidney(1)											107	88	94					X																	54839919		2203	4300	6503	SO:0001630	splice_region_variant	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1209-1A>G	X.37:g.54839919A>G			A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Splice_Site	SNP	ENST00000375068.1	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199819	0.38905	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9968	0.58650	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAGED2	54856644	1.000000	0.71417	0.907000	0.35723	0.580000	0.36256	6.396000	0.73234	1.871000	0.54225	0.486000	0.48141	.		0.408	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599	Intron	G	54839919	A	G	54839919	5	3	313	1	0	0	0	0	0	0	1	0	9186	202	7	3	1241	3	MAGED2	23	54839919	Splice_Site	SNP	A	TCGA-BP-4162-01A-02D-1386-10		54839919	100430641	40	18733											
ZCCHC13	389874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	73524500	73524500	+	Silent	SNP	C	C	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chrX:73524500C>T	ENST00000339534.2	+	1	476	c.399C>T	c.(397-399)tgC>tgT	p.C133C		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	133							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.C133C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GTTACCGATGCGGCGAGATTG	0.552																																																1	Substitution - coding silent(1)	kidney(1)											70	56	61					X																	73524500		2203	4300	6503	SO:0001819	synonymous_variant	389874			BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"Zinc fingers, CCHC domain containing"	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.399C>T	X.37:g.73524500C>T				Silent	SNP	ENST00000339534.2	37	CCDS14425.1																																																																																				0.552	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303		T	73524500	C	T	73524500	2	4	313	1	0	0	0	0	0	0	0	1	17587	776	27	1		1	ZCCHC13	23	73524500	Silent	SNP	C	TCGA-BP-4162-01A-02D-1386-10	18684581	73524500	81746060	41	18734											
TAF7L	54457	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	100524198	100524198	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chrX:100524198G>A	ENST00000372907.3	-	13	1383	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	TAF7L_ENST00000372905.2_Missense_Mutation_p.R298C|TAF7L_ENST00000356784.1_Missense_Mutation_p.R372C|TAF7L_ENST00000324762.6_Missense_Mutation_p.R298C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	458			R -> H (in dbSNP:rs41310729). {ECO:0000269|PubMed:16597641, ECO:0000269|PubMed:17714218}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)		p.R458C(2)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTCAGAAAACGCTGCAACTGT	0.438																																					Ovarian(104;431 1530 3210 15406 18594)											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|kidney(1)											174	153	160					X																	100524198		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1372C>T	X.37:g.100524198G>A	ENSP00000361998:p.Arg458Cys		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	G	0.986	-0.695613	0.03279	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.22743	2.53;1.94;1.94;1.95	4.33	-0.0451	0.13853	.	1.843890	0.03075	N	0.157777	T	0.06325	0.0163	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18871	-1.0323	10	0.39692	T	0.17	4.5082	1.9746	0.03413	0.447:0.309:0.0917:0.1523	.	458;298	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	C	458;298;298;372	ENSP00000361998:R458C;ENSP00000361996:R298C;ENSP00000320283:R298C;ENSP00000349235:R372C	ENSP00000320283:R298C	R	-	1	0	TAF7L	100410854	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.468000	0.22051	-0.256000	0.09473	-0.505000	0.04504	CGT		0.438	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			A	100524198	G	A	100524198	3	1	313	1	0	0	0	0	1	0	0	0	15538	1087	38	1	20	1	TAF7L	23	100524198	Missense_Mutation	SNP	G	TCGA-BP-4162-01A-02D-1386-10	26999698	100524198	54746362	42	18735											
AVPR2	554	broad.mit.edu	37	X	153171715	153171715	+	Missense_Mutation	SNP	G	G	A	rs368306347		TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chrX:153171715G>A	ENST00000358927.2	+	3	964	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	AVPR2_ENST00000370049.1_Missense_Mutation_p.R252Q|AVPR2_ENST00000337474.5_Missense_Mutation_p.R252Q			P30518	V2R_HUMAN	arginine vasopressin receptor 2	252			R -> W (in dbSNP:rs61733407).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.R252Q(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	AGGGGACGCCGGACAGGCAGC	0.652																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)						G	GLN/ARG,GLN/ARG	1,3834		0,1,1631,571	83	72	76		755,755	0.2	0	X		76	0,6728		0,0,2428,1872	no	missense,missense	AVPR2	NM_000054.4,NM_001146151.1	43,43	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	possibly-damaging,possibly-damaging	252/372,252/310	153171715	1,10562	2203	4300	6503	SO:0001583	missense	554			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.755G>A	X.37:g.153171715G>A	ENSP00000351805:p.Arg252Gln		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	g	0.069	-1.205466	0.01568	2.61E-4	0.0	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.77358	-1.09;-0.86;-1.09;-0.51	4.13	0.151	0.14888	GPCR, rhodopsin-like superfamily (1);	1.368180	0.04734	N	0.421642	T	0.66636	0.2809	L	0.41415	1.275	0.20563	N	0.999889	B;B	0.15141	0.012;0.007	B;B	0.11329	0.005;0.006	T	0.41106	-0.9527	10	0.23302	T	0.38	-13.4909	4.2092	0.10503	0.4162:0.0:0.4253:0.1585	.	252;252	P30518-2;P30518	.;V2R_HUMAN	Q	252	ENSP00000351805:R252Q;ENSP00000393513:R252Q;ENSP00000338072:R252Q;ENSP00000359066:R252Q	ENSP00000338072:R252Q	R	+	2	0	AVPR2	152824909	0.078000	0.21339	0.007000	0.13788	0.017000	0.09413	1.392000	0.34486	-0.062000	0.13088	-0.819000	0.03115	CGG		0.652	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			A	153171715	G	A	153171715	3	1	313	1	0	0	0	0	1	0	0	0	1233	1116	39	1	761	1	AVPR2	23	153171715	Missense_Mutation	SNP	G	TCGA-BP-4162-01A-02D-1386-10	52647517	153171715	2098845	43	18736											
VHL	7428	hgsc.bcm.edu	37	3	10183614	10183614	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4162-01A-02W-1382-10	TCGA-BP-4162-11A-01W-1244-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	c637a3a7-a6a3-4a16-88ce-c25fd22866ee	ca28ed39-29d1-4e3d-9a48-5385d4dd85c3	g.chr3:10183614A>G	ENST00000256474.2	+	1	923	c.83A>G	c.(82-84)gAc>gGc	p.D28G	VHL_ENST00000345392.2_Missense_Mutation_p.D28G|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	28	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.D28V(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCTGAAGAAGACGGCGGGGAG	0.736		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	1	Substitution - Missense(1)	kidney(1)											10	13	12					3																	10183614		1939	3851	5790	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.83A>G	3.37:g.10183614A>G	ENSP00000256474:p.Asp28Gly		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	3.150	-0.174515	0.06421	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.81908	-1.55;-1.55	3.41	-6.81	0.01704	.	2.172090	0.02653	N	0.106672	T	0.61664	0.2365	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54801	-0.8239	10	0.30854	T	0.27	-3.589	2.7188	0.05195	0.181:0.4544:0.1816:0.183	.	28;28	P40337-2;P40337	.;VHL_HUMAN	G	28	ENSP00000256474:D28G;ENSP00000344757:D28G	ENSP00000256474:D28G	D	+	2	0	VHL	10158614	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.052000	0.03503	-3.113000	0.00241	-0.995000	0.02519	GAC		0.736	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183614	A	G	10183614	3	3	314	1	0	0	0	0	1	0	0	0	17167	275	10	3	85	3	VHL	3	10183614	Missense_Mutation	SNP	A	TCGA-BP-4162-01A-02W-1382-10		10183614	187838816	1	18737			1	31		2	2	184	N	T_A	1.182287e-05
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	A	rs5030807		TCGA-BP-4162-01A-02W-1382-10	TCGA-BP-4162-11A-01W-1244-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	c637a3a7-a6a3-4a16-88ce-c25fd22866ee	ca28ed39-29d1-4e3d-9a48-5385d4dd85c3	g.chr3:10183797T>A	ENST00000256474.2	+	1	1106	c.266T>A	c.(265-267)cTc>cAc	p.L89H	VHL_ENST00000345392.2_Missense_Mutation_p.L89H|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13	16	15					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>A	3.37:g.10183797T>A	ENSP00000256474:p.Leu89His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986585	0.93106	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99576	0.9847	L	0.41492	1.28	0.33129	D	0.542832	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.957	D	0.97755	1.0217	10	0.87932	D	0	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	.	89;89	P40337-2;P40337	.;VHL_HUMAN	H	89	ENSP00000256474:L89H;ENSP00000344757:L89H	ENSP00000256474:L89H	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183797	T	A	10183797	3	1	314	1	0	0	0	0	1	0	0	0	17167	1551	54	5	268	5	VHL	3	10183797	Missense_Mutation	SNP	T	TCGA-BP-4162-01A-02W-1382-10	183	10183797	187838633	2	18738			1	31		2	2	184	N	T_A	1.182287e-05
KDM4A	9682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44154664	44154664	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr1:44154664G>C	ENST00000372396.3	+	13	2069	c.1935G>C	c.(1933-1935)caG>caC	p.Q645H		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	645					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q645H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AACTGTGGCAGAACCGACCTC	0.537																																																1	Substitution - Missense(1)	kidney(1)											93	83	86					1																	44154664		2203	4300	6503	SO:0001583	missense	9682			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1935G>C	1.37:g.44154664G>C	ENSP00000361473:p.Gln645His		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535210	0.85812	.	.	ENSG00000066135	ENST00000372396	T	0.52057	0.68	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.68705	0.3030	M	0.69358	2.11	0.52501	D	0.999958	D	0.71674	0.998	D	0.79784	0.993	T	0.68337	-0.5435	10	0.51188	T	0.08	-23.5947	19.5353	0.95251	0.0:0.0:1.0:0.0	.	645	O75164	KDM4A_HUMAN	H	645	ENSP00000361473:Q645H	ENSP00000361473:Q645H	Q	+	3	2	KDM4A	43927251	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.751000	0.68720	2.608000	0.88229	0.563000	0.77884	CAG		0.537	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		C	44154664	G	C	44154664	3	2	315	1	0	0	0	0	1	0	0	0	8130	933	33	4	1981	4	KDM4A	1	44154664	Missense_Mutation	SNP	G	TCGA-BP-4163-01A-02D-1386-10		44154664	205095957	1	18739											
BCAS2	10286	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	115123970	115123970	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr1:115123970T>G	ENST00000369541.3	-	2	183	c.136A>C	c.(136-138)Act>Cct	p.T46P	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	46					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)		p.T46P(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGTTCTTAGTAGGTCGGTAT	0.468																																																1	Substitution - Missense(1)	kidney(1)											206	205	205					1																	115123970		2203	4300	6503	SO:0001583	missense	10286			AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.136A>C	1.37:g.115123970T>G	ENSP00000358554:p.Thr46Pro		Q6FGS0	Missense_Mutation	SNP	ENST00000369541.3	37	CCDS874.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491728	0.84962	.	.	ENSG00000116752	ENST00000369541	.	.	.	4.84	4.84	0.62591	.	0.091703	0.85682	D	0.000000	T	0.52273	0.1724	L	0.41079	1.255	0.80722	D	1	P	0.43633	0.813	P	0.57244	0.816	T	0.47497	-0.9113	9	0.20046	T	0.44	-13.1225	14.9298	0.70906	0.0:0.0:0.0:1.0	.	46	O75934	SPF27_HUMAN	P	46	.	ENSP00000358554:T46P	T	-	1	0	BCAS2	114925493	1.000000	0.71417	0.935000	0.37517	0.987000	0.75469	5.431000	0.66507	2.165000	0.68154	0.451000	0.29950	ACT		0.468	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032871.1	NM_005872		G	115123970	T	G	115123970	3	3	315	1	0	0	0	0	1	0	0	0	1351	1638	57	5	565	5	BCAS2	1	115123970	Missense_Mutation	SNP	T	TCGA-BP-4163-01A-02D-1386-10	70969306	115123970	134126651	2	18740											
MRPL9	65005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151732588	151732588	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr1:151732588A>T	ENST00000368830.3	-	7	826	c.742T>A	c.(742-744)Tat>Aat	p.Y248N	MRPL9_ENST00000467306.1_5'UTR|RP11-98D18.15_ENST00000601684.1_RNA|OAZ3_ENST00000321531.5_5'Flank|MRPL9_ENST00000368829.3_Missense_Mutation_p.Y214N|OAZ3_ENST00000315067.8_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	248					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Y248N(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTACTTATATCTTTTGGTC	0.493																																																1	Substitution - Missense(1)	kidney(1)											86	84	85					1																	151732588		2203	4300	6503	SO:0001583	missense	65005			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"Mitochondrial ribosomal proteins / large subunits"	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.742T>A	1.37:g.151732588A>T	ENSP00000357823:p.Tyr248Asn		B2RD99|Q5SZR2|Q9BSW8	Missense_Mutation	SNP	ENST00000368830.3	37	CCDS1003.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637649	0.47049	.	.	ENSG00000143436	ENST00000368830;ENST00000368829	T;T	0.34667	1.35;1.37	5.16	5.16	0.70880	.	0.589487	0.16610	N	0.206947	T	0.35098	0.0920	L	0.57536	1.79	0.35639	D	0.810843	D	0.61697	0.99	P	0.53146	0.719	T	0.36138	-0.9760	10	0.62326	D	0.03	-1.2972	11.3139	0.49379	1.0:0.0:0.0:0.0	.	248	Q9BYD2	RM09_HUMAN	N	248;214	ENSP00000357823:Y248N;ENSP00000357822:Y214N	ENSP00000357822:Y214N	Y	-	1	0	MRPL9	149999212	1.000000	0.71417	0.986000	0.45419	0.123000	0.20343	5.053000	0.64269	2.157000	0.67596	0.528000	0.53228	TAT		0.493	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		T	151732588	A	T	151732588	3	4	315	1	0	0	0	0	1	0	0	0	9822	449	16	5	65	5	MRPL9	1	151732588	Missense_Mutation	SNP	A	TCGA-BP-4163-01A-02D-1386-10	36608618	151732588	97518033	3	18741											
ASPM	259266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197060067	197060067	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr1:197060067C>G	ENST00000367409.4	-	23	9805	c.9549G>C	c.(9547-9549)agG>agC	p.R3183S	ASPM_ENST00000367408.1_Missense_Mutation_p.R848S|ASPM_ENST00000294732.7_Missense_Mutation_p.R1598S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3183	IQ 38. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R3183S(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGATGCAGCCCTATTTCGCT	0.368																																																1	Substitution - Missense(1)	kidney(1)											117	114	115					1																	197060067		2203	4300	6503	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9549G>C	1.37:g.197060067C>G	ENSP00000356379:p.Arg3183Ser		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.264821	0.59431	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.72282	-0.64;-0.64;1.26	5.05	-1.69	0.08186	.	0.448404	0.23879	N	0.043664	T	0.70684	0.3252	M	0.73598	2.24	0.09310	N	1	P;P;P	0.43231	0.801;0.684;0.785	B;B;P	0.53988	0.355;0.197;0.739	T	0.62511	-0.6839	10	0.09843	T	0.71	.	6.1004	0.20043	0.1915:0.3341:0.0:0.4744	.	1169;1598;3183	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	S	3183;1598;848;1169	ENSP00000356379:R3183S;ENSP00000294732:R1598S;ENSP00000356378:R848S	ENSP00000294732:R1598S	R	-	3	2	ASPM	195326690	0.000000	0.05858	0.284000	0.24805	0.949000	0.60115	-1.851000	0.01669	-0.241000	0.09681	0.491000	0.48974	AGG		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		G	197060067	C	G	197060067	3	3	315	1	0	0	0	0	1	0	0	0	1056	622	22	4	908	4	ASPM	1	197060067	Missense_Mutation	SNP	C	TCGA-BP-4163-01A-02D-1386-10	45327479	197060067	52190554	4	18742											
WDR35	57539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	20153652	20153652	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr2:20153652T>C	ENST00000345530.3	-	13	1491	c.1376A>G	c.(1375-1377)aAg>aGg	p.K459R	WDR35_ENST00000416055.2_Missense_Mutation_p.K24R|WDR35_ENST00000281405.4_Missense_Mutation_p.K448R	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	459					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.K459R(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTGAGCTTCTTTGCCAC	0.373																																																1	Substitution - Missense(1)	kidney(1)											224	210	215					2																	20153652		2203	4300	6503	SO:0001583	missense	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1376A>G	2.37:g.20153652T>C	ENSP00000314444:p.Lys459Arg		B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.348409	0.61183	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055	D;D;D	0.91237	-2.81;-2.81;-2.81	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92919	0.7747	L	0.52905	1.665	0.80722	D	1	B;D;B;P	0.71674	0.196;0.998;0.029;0.532	B;D;B;B	0.67231	0.118;0.95;0.009;0.175	D	0.90855	0.4734	10	0.19590	T	0.45	-21.546	15.0583	0.71933	0.0:0.0:0.0:1.0	.	459;448;459;24	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	R	459;448;24	ENSP00000314444:K459R;ENSP00000281405:K448R;ENSP00000399159:K24R	ENSP00000281405:K448R	K	-	2	0	WDR35	20017133	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.005000	0.70716	2.158000	0.67659	0.459000	0.35465	AAG		0.373	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		C	20153652	T	C	20153652	3	2	315	1	0	0	0	0	1	0	0	0	17294	1609	56	3	2233	3	WDR35	2	20153652	Missense_Mutation	SNP	T	TCGA-BP-4163-01A-02D-1386-10		20153652	223045721	5	18743											
TMEM111	55831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10005822	10005822	+	Silent	SNP	T	T	C			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr3:10005822T>C	ENST00000245046.2	-	8	1175	c.717A>G	c.(715-717)gaA>gaG	p.E239E	RP11-1020A11.2_ENST00000602436.1_RNA	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	239						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.E239E(1)									CCATGAGCTCTTCTTCGACAT	0.483																																																1	Substitution - coding silent(1)	kidney(1)											134	124	128					3																	10005822		2203	4300	6503	SO:0001819	synonymous_variant	0			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"transmembrane protein 111"	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.717A>G	3.37:g.10005822T>C			B2R4Z9|Q53GH8|Q6ZMC2	Silent	SNP	ENST00000245046.2	37	CCDS2594.1																																																																																				0.483	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250532.1	NM_018447		C	10005822	T	C	10005822	2	2	315	1	0	0	0	0	0	0	0	1	16033	1606	56	3		3	TMEM111	3	10005822	Silent	SNP	T	TCGA-BP-4163-01A-02D-1386-10		10005822	188016608	6	18744											
TEX264	51368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	51708346	51708346	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr3:51708346T>A	ENST00000415259.1	+	2	1107	c.26T>A	c.(25-27)cTg>cAg	p.L9Q	TEX264_ENST00000457573.1_Missense_Mutation_p.L9Q|TEX264_ENST00000341333.5_Missense_Mutation_p.L9Q|TEX264_ENST00000395057.1_Missense_Mutation_p.L9Q|TEX264_ENST00000416589.1_Missense_Mutation_p.L9Q			Q9Y6I9	TX264_HUMAN	testis expressed 264	9						extracellular vesicular exosome (GO:0070062)		p.L9Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		CTACTGGGCCTGATTGGGGGC	0.607																																																1	Substitution - Missense(1)	kidney(1)											77	78	78					3																	51708346		2203	4300	6503	SO:0001583	missense	51368			AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"testis expressed gene 264", "testis expressed sequence 264"			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.26T>A	3.37:g.51708346T>A	ENSP00000396628:p.Leu9Gln		B3KN87|Q9UKD7	Missense_Mutation	SNP	ENST00000415259.1	37	CCDS2833.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592459	0.66219	.	.	ENSG00000164081	ENST00000419358;ENST00000457573;ENST00000341333;ENST00000412249;ENST00000425781;ENST00000415259;ENST00000395057;ENST00000416589;ENST00000457927;ENST00000444233	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.46	5.46	0.80206	.	0.075872	0.56097	D	0.000037	T	0.69780	0.3149	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72918	-0.4146	10	0.72032	D	0.01	7.5028	14.7181	0.69286	0.0:0.0:0.0:1.0	.	9;9	Q53GI2;Q9Y6I9	.;TX264_HUMAN	Q	9	ENSP00000408186:L9Q;ENSP00000340969:L9Q;ENSP00000396628:L9Q;ENSP00000378497:L9Q;ENSP00000398802:L9Q	ENSP00000340969:L9Q	L	+	2	0	TEX264	51683386	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.249000	0.72427	2.084000	0.62774	0.454000	0.30748	CTG		0.607	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926		A	51708346	T	A	51708346	3	1	315	1	0	0	0	0	1	0	0	0	15788	1580	55	5	28	5	TEX264	3	51708346	Missense_Mutation	SNP	T	TCGA-BP-4163-01A-02D-1386-10	41702524	51708346	146314084	7	18745											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52439876	52439876	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr3:52439876G>T	ENST00000460680.1	-	10	1307	c.836C>A	c.(835-837)tCa>tAa	p.S279*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.S261*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	190					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S279*(1)|p.S279L(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGGCAGCTGTGACTCTTGAGA	0.557			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Substitution - Missense(1)|Substitution - Nonsense(1)	ovary(1)|kidney(1)											70	69	70					3																	52439876		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.836C>A	3.37:g.52439876G>T	ENSP00000417132:p.Ser279*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917248	0.92249	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.35	5.35	0.76521	.	0.678279	0.15439	N	0.262307	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6419	14.9751	0.71264	0.0:0.1423:0.8577:0.0	.	.	.	.	X	279;261	.	ENSP00000296288:S261X	S	-	2	0	BAP1	52414916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.821000	0.55700	2.663000	0.90544	0.561000	0.74099	TCA		0.557	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			T	52439876	G	T	52439876	4	4	315	1	0	0	0	0	0	1	0	0	1311	1294	45	4	1385	4	BAP1	3	52439876	Nonsense_Mutation	SNP	G	TCGA-BP-4163-01A-02D-1386-10	731530	52439876	145582554	8	18746											
TOPBP1	11073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	133362056	133362056	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr3:133362056A>T	ENST00000260810.5	-	12	2140	c.2009T>A	c.(2008-2010)cTc>cAc	p.L670H	TOPBP1_ENST00000511439.1_5'Flank	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	670	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.L583H(1)|p.L670H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGCTCCAAGGAGGTTTGCTAG	0.353								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)											2	Substitution - Missense(2)	kidney(2)											100	98	99					3																	133362056		1853	4097	5950	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2009T>A	3.37:g.133362056A>T	ENSP00000260810:p.Leu670His		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	A	1.347	-0.592379	0.03799	.	.	ENSG00000163781	ENST00000260810	D	0.83163	-1.69	5.86	-11.7	0.00046	BRCT (4);	1.195780	0.05699	N	0.593773	T	0.62454	0.2429	N	0.16037	0.36	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.49322	-0.8952	10	0.12430	T	0.62	.	11.1492	0.48449	0.5466:0.0762:0.0:0.3772	.	670	Q92547	TOPB1_HUMAN	H	670	ENSP00000260810:L670H	ENSP00000260810:L670H	L	-	2	0	TOPBP1	134844746	0.004000	0.15560	0.004000	0.12327	0.295000	0.27426	0.019000	0.13444	-3.387000	0.00174	-1.236000	0.01555	CTC		0.353	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		T	133362056	A	T	133362056	3	4	315	1	0	0	0	0	1	0	0	0	16374	304	11	5	2627	5	TOPBP1	3	133362056	Missense_Mutation	SNP	A	TCGA-BP-4163-01A-02D-1386-10	80922180	133362056	64660374	9	18747											
OTOL1	131149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	161221212	161221212	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr3:161221212C>A	ENST00000327928.4	+	4	916	c.916C>A	c.(916-918)Cct>Act	p.P306T		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	306	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.P306T(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCTCCTGGGACCTACTGGGCC	0.567																																																1	Substitution - Missense(1)	kidney(1)											28	29	29					3																	161221212		1913	4114	6027	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.916C>A	3.37:g.161221212C>A	ENSP00000330808:p.Pro306Thr			Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513797	0.27123	.	.	ENSG00000182447	ENST00000327928	D	0.96651	-4.08	5.03	4.16	0.48862	.	0.162448	0.56097	D	0.000033	D	0.94840	0.8333	M	0.61703	1.905	0.40023	D	0.975436	P	0.47604	0.898	P	0.45167	0.472	D	0.92802	0.6257	10	0.25751	T	0.34	.	11.9216	0.52795	0.0:0.9151:0.0:0.0849	.	306	A6NHN0	OTOL1_HUMAN	T	306	ENSP00000330808:P306T	ENSP00000330808:P306T	P	+	1	0	OTOL1	162703906	0.992000	0.36948	0.568000	0.28447	0.299000	0.27559	2.148000	0.42235	1.106000	0.41623	0.557000	0.71058	CCT		0.567	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		A	161221212	C	A	161221212	3	1	315	1	0	0	0	0	1	0	0	0	11306	507	18	4	930	4	OTOL1	3	161221212	Missense_Mutation	SNP	C	TCGA-BP-4163-01A-02D-1386-10	27859156	161221212	36801218	10	18748											
ATP13A4	84239	broad.mit.edu;hgsc.bcm.edu	37	3	193120483	193120483	+	Silent	SNP	A	A	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr3:193120483A>G	ENST00000342695.4	-	30	3871	c.3549T>C	c.(3547-3549)tcT>tcC	p.S1183S	ATP13A4_ENST00000392443.3_Silent_p.S1164S|ATP13A4_ENST00000400270.2_Silent_p.S199S|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1183						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.S1183S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GATTGCTGTAAGACACTCCTC	0.463																																																1	Substitution - coding silent(1)	kidney(1)											100	98	99					3																	193120483		2203	4300	6503	SO:0001819	synonymous_variant	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3549T>C	3.37:g.193120483A>G			B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	CCDS3304.2																																																																																				0.463	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		G	193120483	A	G	193120483	2	3	315	1	0	0	0	0	0	0	0	1	1126	59	3	3		3	ATP13A4	3	193120483	Silent	SNP	A	TCGA-BP-4163-01A-02D-1386-10	31899271	193120483	4901947	11	18749											
THAP6	152815	hgsc.bcm.edu;ucsc.edu	37	4	76440718	76440721	+	Frame_Shift_Del	DEL	AGTT	AGTT	-			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	AGTT	AGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr4:76440718_76440721delAGTT	ENST00000311638.3	+	2	124_127	c.56_59delAGTT	c.(55-60)aagttafs	p.KL19fs	THAP6_ENST00000380837.3_Frame_Shift_Del_p.KL19fs|RCHY1_ENST00000324439.5_5'Flank|THAP6_ENST00000508105.1_Intron|THAP6_ENST00000507556.1_Frame_Shift_Del_p.KL19fs|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000507557.1_Intron|RCHY1_ENST00000451788.1_5'Flank|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000504190.1_Intron|RCHY1_ENST00000514021.1_5'Flank|RCHY1_ENST00000380840.2_5'Flank|THAP6_ENST00000514480.1_Frame_Shift_Del_p.KL19fs|RCHY1_ENST00000512706.1_5'Flank|RCHY1_ENST00000513257.1_5'Flank	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	19						microtubule cytoskeleton (GO:0015630)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCAAATTCGAAGTTAAAAGGACTG	0.358																																																0																																										SO:0001589	frameshift_variant	152815			BC022989	CCDS3568.1	4q21.21	2013-01-25			ENSG00000174796	ENSG00000174796		"THAP (C2CH-type zinc finger) domain containing"	23189	protein-coding gene	gene with protein product		612535				12575992	Standard	NM_144721		Approved	MGC30052	uc003him.3	Q8TBB0	OTTHUMG00000130108	ENST00000311638.3:c.56_59delAGTT	4.37:g.76440718_76440721delAGTT	ENSP00000309007:p.Lys19fs		B4E146|Q5HYJ7|Q5JPC6	Frame_Shift_Del	DEL	ENST00000311638.3	37	CCDS3568.1																																																																																				0.358	THAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252414.1	NM_144721		-	76440721	AGTT	-	76440718	7	5	315	1	0	1	0	1	0	0	0	0	15853	72	3	0	58	0	THAP6	4	76440718	Frame_Shift_Del	DEL	AGTT	TCGA-BP-4163-01A-02D-1386-10		76440718	114713558	12	18750											
CENPE	1062	broad.mit.edu;ucsc.edu	37	4	104061981	104061981	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr4:104061981G>A	ENST00000265148.3	-	36	5833	c.5744C>T	c.(5743-5745)aCc>aTc	p.T1915I	CENPE_ENST00000380026.3_Missense_Mutation_p.T1890I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1915					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.T1915I(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTAGCTTTGGTTTCTTGCAG	0.393																																																1	Substitution - Missense(1)	kidney(1)											126	110	116					4																	104061981		2203	4300	6503	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5744C>T	4.37:g.104061981G>A	ENSP00000265148:p.Thr1915Ile		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.272140	0.23221	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.69685	-0.42;-0.42	5.21	-1.93	0.07594	.	.	.	.	.	T	0.50769	0.1635	L	0.49350	1.555	0.09310	N	1	P;B	0.38767	0.646;0.04	B;B	0.35859	0.212;0.075	T	0.45629	-0.9248	9	0.59425	D	0.04	.	1.3032	0.02083	0.3282:0.1034:0.3574:0.2109	.	1890;1915	Q02224-3;Q02224	.;CENPE_HUMAN	I	1915;1915;1890	ENSP00000265148:T1915I;ENSP00000369365:T1890I	ENSP00000265148:T1915I	T	-	2	0	CENPE	104281430	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.000000	0.12993	-0.431000	0.07307	-0.874000	0.02982	ACC		0.393	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104061981	G	A	104061981	3	1	315	1	0	0	0	0	1	0	0	0	3232	1261	44	2	2417	2	CENPE	4	104061981	Missense_Mutation	SNP	G	TCGA-BP-4163-01A-02D-1386-10	27621263	104061981	87092295	13	18751											
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37022178	37022178	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr5:37022178C>G	ENST00000282516.8	+	28	5853	c.5354C>G	c.(5353-5355)gCa>gGa	p.A1785G	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1785G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1785					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.A1785G(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGTGAAAATGCAATTGCTGTT	0.338																																																2	Substitution - Missense(2)	kidney(2)											128	117	121					5																	37022178		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5354C>G	5.37:g.37022178C>G	ENSP00000282516:p.Ala1785Gly		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789291	0.90367	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.64991	-0.13;-0.13	5.09	5.09	0.68999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	L	0.55481	1.735	0.80722	D	1	D;D	0.63046	0.976;0.992	P;D	0.64410	0.844;0.925	T	0.76669	-0.2874	10	0.59425	D	0.04	.	18.8683	0.92301	0.0:1.0:0.0:0.0	.	1785;1785	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	G	1785	ENSP00000282516:A1785G;ENSP00000406266:A1785G	ENSP00000282516:A1785G	A	+	2	0	NIPBL	37057935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.418000	0.80167	2.504000	0.84457	0.650000	0.86243	GCA		0.338	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		G	37022178	C	G	37022178	3	3	315	1	0	0	0	0	1	0	0	0	10430	710	25	4	5460	4	NIPBL	5	37022178	Missense_Mutation	SNP	C	TCGA-BP-4163-01A-02D-1386-10		37022178	143893082	14	18752											
C5orf42	65250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37226660	37226660	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr5:37226660C>G	ENST00000508244.1	-	11	2130	c.2037G>C	c.(2035-2037)caG>caC	p.Q679H	C5orf42_ENST00000425232.2_Missense_Mutation_p.Q679H|C5orf42_ENST00000274258.7_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	679						integral component of membrane (GO:0016021)		p.Q679H(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTGAGAATAACTGACCCTTTT	0.333																																																1	Substitution - Missense(1)	kidney(1)											42	35	37					5																	37226660		692	1591	2283	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2037G>C	5.37:g.37226660C>G	ENSP00000421690:p.Gln679His		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	8.249	0.808679	0.16467	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	D;D	0.98178	-4.77;-4.77	5.18	-2.75	0.05914	.	0.551148	0.16751	U	0.201042	D	0.95050	0.8397	L	0.59436	1.845	0.20307	N	0.999914	B	0.21071	0.051	B	0.21917	0.037	D	0.87810	0.2631	10	0.52906	T	0.07	9.3987	2.5421	0.04728	0.1069:0.4592:0.1951:0.2389	.	679	E9PH94	.	H	679	ENSP00000421690:Q679H;ENSP00000389014:Q679H	ENSP00000389014:Q679H	Q	-	3	2	C5orf42	37262417	0.434000	0.25570	0.000000	0.03702	0.965000	0.64279	0.138000	0.16016	-1.066000	0.03164	0.586000	0.80456	CAG		0.333	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		G	37226660	C	G	37226660	3	3	315	1	0	0	0	0	1	0	0	0	2303	564	20	4	7720	4	C5orf42	5	37226660	Missense_Mutation	SNP	C	TCGA-BP-4163-01A-02D-1386-10	204482	37226660	143688600	15	18753											
PKD2L2	27039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137228267	137228267	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr5:137228267T>G	ENST00000508883.1	+	3	258	c.232T>G	c.(232-234)Ttt>Gtt	p.F78V	PKD2L2_ENST00000508638.1_Missense_Mutation_p.F78V|PKD2L2_ENST00000350250.4_Missense_Mutation_p.F44V|PKD2L2_ENST00000502810.1_Missense_Mutation_p.F78V|PKD2L2_ENST00000290431.5_Missense_Mutation_p.F78V			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	78					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.F78V(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGAACCAACTTTAAGTCCAT	0.388																																																1	Substitution - Missense(1)	kidney(1)											163	155	157					5																	137228267		1878	4119	5997	SO:0001583	missense	27039			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.232T>G	5.37:g.137228267T>G	ENSP00000424725:p.Phe78Val		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37		.	.	.	.	.	.	.	.	.	.	T	28.6	4.934628	0.92458	.	.	ENSG00000078795	ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	5.84	5.84	0.93424	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.64402	D	0.000002	D	0.84028	0.5382	M	0.82323	2.585	0.54753	D	0.999986	P;D;P	0.58268	0.931;0.982;0.787	P;P;B	0.62560	0.861;0.904;0.322	D	0.86549	0.1833	10	0.87932	D	0	-23.0712	15.8842	0.79232	0.0:0.0:0.0:1.0	.	78;78;78	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	V	44;78;78;78;78	ENSP00000344177:F44V;ENSP00000423382:F78V;ENSP00000425513:F78V;ENSP00000424725:F78V;ENSP00000290431:F78V	ENSP00000290431:F78V	F	+	1	0	PKD2L2	137256166	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.173000	0.77612	2.233000	0.73108	0.496000	0.49642	TTT		0.388	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		G	137228267	T	G	137228267	3	3	315	1	0	0	0	0	1	0	0	0	11970	1609	56	5	242	5	PKD2L2	5	137228267	Missense_Mutation	SNP	T	TCGA-BP-4163-01A-02D-1386-10	100001607	137228267	43686993	16	18754											
HLA-DQB1	3119	hgsc.bcm.edu;ucsc.edu	37	6	32629137	32629137	+	Missense_Mutation	SNP	T	T	G	rs1140343	byFrequency	TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr6:32629137T>G	ENST00000399084.1	-	5	937	c.759A>C	c.(757-759)caA>caC	p.Q253H	HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000460185.1_5'Flank|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.Q253H|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.Q253H|HLA-DQB1_ENST00000399079.3_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	253			H -> Q (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:04, allele DQB1*06:09, allele DQB1*06:12 and allele DQB1*06:36).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	TCTGACTCCTTTGACGGATGA	0.557									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				.|||	2374	0.474042	0.4115	0.6455	5008	,	,		12639	0.4563		0.502	False		,,,				2504	0.4264				Esophageal Squamous(151;720 1825 15000 40336 43415)											0													29	26	27					6																	32629137		1985	3993	5978	SO:0001583	missense	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.759A>C	6.37:g.32629137T>G	ENSP00000382034:p.Gln253His		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399084.1	37	CCDS43451.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.667088	0.00765	.	.	ENSG00000179344	ENST00000374943;ENST00000434651;ENST00000399084	T;T;T	0.00637	6.09;6.05;6.05	4.9	1.89	0.25635	.	0.386589	0.24472	N	0.038227	T	0.00210	0.0006	.	.	.	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43877	-0.9364	8	0.37606	T	0.19	.	4.3544	0.11170	0.166:0.1331:0.5795:0.1215	rs1140343;rs3204407;rs9273623;rs9273624;rs12722394;rs17404508;rs36092604	218;253;253	A2VCT9;Q5Y7D6;Q5Y7A9	.;.;.	H	253	ENSP00000364080:Q253H;ENSP00000407332:Q253H;ENSP00000382034:Q253H	ENSP00000364080:Q253H	Q	-	3	2	HLA-DQB1	32737115	0.000000	0.05858	0.029000	0.17559	0.566000	0.35808	-0.071000	0.11505	0.152000	0.19188	-0.127000	0.14921	CAA		0.557	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276127.1	NM_002123		G	32629137	T	G	32629137	3	3	315	1	0	0	0	0	1	0	0	0	7208	1838	64	5	34	5	HLA-DQB1	6	32629137	Missense_Mutation	SNP	T	TCGA-BP-4163-01A-02D-1386-10		32629137	138485930	17	18755											
SYTL3	94120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	159184435	159184435	+	Silent	SNP	C	C	A	rs140709967	byFrequency	TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr6:159184435C>A	ENST00000297239.9	+	16	1811	c.1617C>A	c.(1615-1617)ggC>ggA	p.G539G	SYTL3_ENST00000360448.3_Silent_p.G471G|SYTL3_ENST00000367081.3_Silent_p.G265G|MIR3918_ENST00000581555.1_RNA			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	539	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.G471G(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCTTCAGTGGCGTAACCCCAG	0.537																																																1	Substitution - coding silent(1)	kidney(1)											110	101	104					6																	159184435		2203	4300	6503	SO:0001819	synonymous_variant	94120			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1617C>A	6.37:g.159184435C>A			Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	CCDS56458.1																																																																																				0.537	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			A	159184435	C	A	159184435	2	1	315	1	0	0	0	0	0	0	0	1	15489	755	27	4		4	SYTL3	6	159184435	Silent	SNP	C	TCGA-BP-4163-01A-02D-1386-10	126555298	159184435	11930632	18	18756											
STEAP1	26872	broad.mit.edu	37	7	89790291	89790291	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr7:89790291T>C	ENST00000297205.2	+	3	457	c.257T>C	c.(256-258)tTt>tCt	p.F86S	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	86					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)	p.F86S(1)		kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TCTCTGACTTTTCTTTACACT	0.388																																																1	Substitution - Missense(1)	kidney(1)											116	115	116					7																	89790291		2203	4300	6503	SO:0001583	missense	26872			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"Serine peptidases / Serine peptidases"	11378	protein-coding gene	gene with protein product		604415	"six transmembrane epithelial antigen of the prostate"	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.257T>C	7.37:g.89790291T>C	ENSP00000297205:p.Phe86Ser		A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413480	0.42817	.	.	ENSG00000164647	ENST00000297205	T	0.11930	2.73	5.02	5.02	0.67125	.	0.076437	0.56097	D	0.000031	T	0.19208	0.0461	M	0.83953	2.67	0.40481	D	0.980443	P;P	0.48503	0.911;0.787	B;B	0.39840	0.311;0.219	T	0.06285	-1.0835	10	0.59425	D	0.04	-18.7857	9.4178	0.38532	0.0:0.0795:0.0:0.9205	.	86;86	B4E221;Q9UHE8	.;STEA1_HUMAN	S	86	ENSP00000297205:F86S	ENSP00000297205:F86S	F	+	2	0	STEAP1	89628227	1.000000	0.71417	0.843000	0.33291	0.759000	0.43091	5.307000	0.65762	2.099000	0.63709	0.533000	0.62120	TTT		0.388	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		C	89790291	T	C	89790291	3	2	315	1	0	0	0	0	1	0	0	0	15282	1841	64	3	263	3	STEAP1	7	89790291	Missense_Mutation	SNP	T	TCGA-BP-4163-01A-02D-1386-10		89790291	69348372	19	18757											
TSC22D4	81628	broad.mit.edu;ucsc.edu	37	7	100065183	100065183	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr7:100065183G>T	ENST00000300181.2	-	4	1724	c.970C>A	c.(970-972)Caa>Aaa	p.Q324K	TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_Missense_Mutation_p.Q85K	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	324					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q324K(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCATGGCTTGCTCGATTTTG	0.577																																																1	Substitution - Missense(1)	kidney(1)											148	138	141					7																	100065183		2203	4300	6503	SO:0001583	missense	81628			BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.970C>A	7.37:g.100065183G>T	ENSP00000300181:p.Gln324Lys		A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	CCDS5695.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.65|16.65	3.182568|3.182568	0.57800|0.57800	.|.	.|.	ENSG00000166925|ENSG00000166925	ENST00000300181;ENST00000393991|ENST00000423266;ENST00000456330	.|.	.|.	.|.	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	0.161948|.	0.28647|.	N|.	0.014604|.	T|T	0.50394|0.50394	0.1613|0.1613	N|N	0.19112|0.19112	0.55|0.55	0.54753|0.54753	D|D	0.999988|0.999988	B|.	0.17038|.	0.02|.	B|.	0.19946|.	0.027|.	T|T	0.46105|0.46105	-0.9215|-0.9215	9|5	0.66056|.	D|.	0.02|.	-2.6902|-2.6902	15.0806|15.0806	0.72110|0.72110	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	324|.	Q9Y3Q8|.	T22D4_HUMAN|.	K|R	324;85|139;141	.|.	ENSP00000300181:Q324K|.	Q|S	-|-	1|3	0|2	TSC22D4|TSC22D4	99903119|99903119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.224000|7.224000	0.78042|0.78042	2.199000|2.199000	0.70637|0.70637	0.650000|0.650000	0.86243|0.86243	CAA|AGC		0.577	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		T	100065183	G	T	100065183	3	4	315	1	0	0	0	0	1	0	0	0	16615	1328	46	4	225	4	TSC22D4	7	100065183	Missense_Mutation	SNP	G	TCGA-BP-4163-01A-02D-1386-10	10274892	100065183	59073480	20	18758											
LAMB4	22798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107717486	107717486	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr7:107717486A>T	ENST00000388781.3	-	17	2110	c.2027T>A	c.(2026-2028)aTc>aAc	p.I676N	LAMB4_ENST00000414450.2_Missense_Mutation_p.I676N|LAMB4_ENST00000388780.3_Missense_Mutation_p.I676N|LAMB4_ENST00000418464.1_Missense_Mutation_p.I676N|LAMB4_ENST00000205386.4_Missense_Mutation_p.I676N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	676	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.I676N(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCTAAACAGATGGGTGTGGG	0.383																																																1	Substitution - Missense(1)	kidney(1)											97	102	100					7																	107717486		2203	4300	6503	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2027T>A	7.37:g.107717486A>T	ENSP00000373433:p.Ile676Asn		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238677	0.79800	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.36157	1.32;1.32;1.34;1.27;1.32	5.06	5.06	0.68205	Laminin IV (1);	0.144445	0.32503	N	0.006008	T	0.47395	0.1443	L	0.55481	1.735	0.39039	D	0.960088	D	0.61080	0.989	P	0.53450	0.726	T	0.54807	-0.8238	10	0.87932	D	0	.	14.6452	0.68756	1.0:0.0:0.0:0.0	.	676	A4D0S4	LAMB4_HUMAN	N	676	ENSP00000205386:I676N;ENSP00000373433:I676N;ENSP00000373432:I676N;ENSP00000402353:I676N;ENSP00000402265:I676N	ENSP00000205386:I676N	I	-	2	0	LAMB4	107504722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.100000	0.71473	2.134000	0.65973	0.533000	0.62120	ATC		0.383	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107717486	A	T	107717486	3	4	315	1	0	0	0	0	1	0	0	0	8615	333	12	5	3330	5	LAMB4	7	107717486	Missense_Mutation	SNP	A	TCGA-BP-4163-01A-02D-1386-10	7652303	107717486	51421177	21	18759											
SHARPIN	81858	broad.mit.edu;ucsc.edu	37	8	145154959	145154959	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr8:145154959G>C	ENST00000398712.2	-	3	826	c.390C>G	c.(388-390)aaC>aaG	p.N130K	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	130	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)	p.N130K(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGTGGTGAGTTGCTCTTGC	0.602																																																1	Substitution - Missense(1)	kidney(1)											226	237	233					8																	145154959		2174	4267	6441	SO:0001583	missense	81858			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.390C>G	8.37:g.145154959G>C	ENSP00000381698:p.Asn130Lys		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	ENST00000398712.2	37	CCDS43777.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.261735	0.00021	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.28895	2.03;1.59	0.235	0.235	0.15431	.	0.726607	0.12311	N	0.480220	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35450	-0.9788	9	0.06625	T	0.88	.	.	.	.	.	130	Q9H0F6	SHRPN_HUMAN	K	130	ENSP00000381698:N130K;ENSP00000352551:N130K	ENSP00000352551:N130K	N	-	3	2	SHARPIN	145226947	0.047000	0.20315	0.016000	0.15963	0.059000	0.15707	1.598000	0.36740	0.308000	0.22923	0.313000	0.20887	AAC		0.602	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		C	145154959	G	C	145154959	3	2	315	1	0	0	0	0	1	0	0	0	14273	1020	36	4	797	4	SHARPIN	8	145154959	Missense_Mutation	SNP	G	TCGA-BP-4163-01A-02D-1386-10		145154959	1209063	22	18760											
OR56A4	120793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6023936	6023936	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr11:6023936C>G	ENST00000330728.4	-	1	488	c.443G>C	c.(442-444)aGc>aCc	p.S148T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S148T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTGGGAAGCTGATCGACCT	0.542																																																1	Substitution - Missense(1)	kidney(1)											95	87	90					11																	6023936		2201	4296	6497	SO:0001583	missense	120793			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.443G>C	11.37:g.6023936C>G	ENSP00000328215:p.Ser148Thr		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	C	1.876	-0.458993	0.04508	.	.	ENSG00000183389	ENST00000330728	T	0.01323	5.01	3.34	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.222293	0.22638	U	0.057481	T	0.02494	0.0076	M	0.77103	2.36	0.09310	N	1	B	0.17038	0.02	B	0.24269	0.052	T	0.34403	-0.9830	10	0.32370	T	0.25	.	7.2699	0.26250	0.1915:0.6224:0.1861:0.0	.	96	Q8NGH8	O56A4_HUMAN	T	148	ENSP00000328215:S148T	ENSP00000328215:S148T	S	-	2	0	OR56A4	5980512	0.000000	0.05858	0.009000	0.14445	0.029000	0.11900	-0.393000	0.07305	0.698000	0.31739	0.555000	0.69702	AGC		0.542	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		G	6023936	C	G	6023936	3	3	315	1	0	0	0	0	1	0	0	0	11137	797	28	4	656	4	OR56A4	11	6023936	Missense_Mutation	SNP	C	TCGA-BP-4163-01A-02D-1386-10		6023936	128982580	23	18761											
SLC25A45	283130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65144051	65144051	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr11:65144051C>T	ENST00000527174.1	-	6	749	c.694G>A	c.(694-696)Gat>Aat	p.D232N	SLC25A45_ENST00000377152.2_Missense_Mutation_p.D128N|SLC25A45_ENST00000526432.1_Missense_Mutation_p.D170N|SLC25A45_ENST00000294187.6_Missense_Mutation_p.D190N|SLC25A45_ENST00000398802.1_Missense_Mutation_p.D232N|SLC25A45_ENST00000417511.2_Missense_Mutation_p.D190N|SLC25A45_ENST00000534028.1_Missense_Mutation_p.D208N|SLC25A45_ENST00000360662.3_Missense_Mutation_p.D208N|RP11-867O8.5_ENST00000533886.1_RNA			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	232					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.D232N(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CTCAGTCCATCCATCTGCATC	0.612																																																1	Substitution - Missense(1)	kidney(1)											99	105	103					11																	65144051		2167	4261	6428	SO:0001583	missense	283130			BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.694G>A	11.37:g.65144051C>T	ENSP00000435489:p.Asp232Asn		Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983234	0.74474	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	4.58	4.58	0.56647	Mitochondrial carrier domain (2);	.	.	.	.	D	0.86514	0.5951	M	0.79011	2.435	0.50313	D	0.99986	B;P;D	0.54397	0.324;0.813;0.966	B;P;P	0.62089	0.224;0.76;0.898	D	0.88182	0.2871	9	0.72032	D	0.01	5.0032	15.256	0.73585	0.0:1.0:0.0:0.0	.	170;208;232	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	N	232;208;232;208;128;190;190;170	ENSP00000435489:D232N;ENSP00000431769:D208N;ENSP00000381782:D232N;ENSP00000353879:D208N;ENSP00000366357:D128N;ENSP00000294187:D190N;ENSP00000407530:D190N;ENSP00000435547:D170N	ENSP00000294187:D190N	D	-	1	0	SLC25A45	64900627	1.000000	0.71417	0.967000	0.41034	0.661000	0.39034	3.761000	0.55242	2.550000	0.86006	0.561000	0.74099	GAT		0.612	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		T	65144051	C	T	65144051	3	4	315	1	0	0	0	0	1	0	0	0	14516	855	30	2	176	2	SLC25A45	11	65144051	Missense_Mutation	SNP	C	TCGA-BP-4163-01A-02D-1386-10	59120115	65144051	69862465	24	18762											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92577387	92577387	+	Silent	SNP	G	G	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr11:92577387G>T	ENST00000298047.6	+	18	10871	c.10854G>T	c.(10852-10854)ctG>ctT	p.L3618L	FAT3_ENST00000525166.1_Silent_p.L3468L|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000409404.2_Silent_p.L3618L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3618	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3618L(2)|p.L193L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTATGTCCTGAATGTGTCTG	0.507										TCGA Ovarian(4;0.039)																																						3	Substitution - coding silent(3)	kidney(3)											173	181	178					11																	92577387		2152	4258	6410	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10854G>T	11.37:g.92577387G>T			B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92577387	G	T	92577387	2	4	315	1	0	0	0	0	0	0	0	1	5693	1277	45	4		4	FAT3	11	92577387	Silent	SNP	G	TCGA-BP-4163-01A-02D-1386-10	27433336	92577387	42429129	25	18763											
NFRKB	4798	broad.mit.edu;hgsc.bcm.edu	37	11	129754640	129754640	+	Splice_Site	SNP	C	C	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr11:129754640C>T	ENST00000446488.3	-	6	845	c.742G>A	c.(742-744)Gat>Aat	p.D248N	NFRKB_ENST00000524746.1_Splice_Site_p.D248N|NFRKB_ENST00000524794.1_Splice_Site_p.D273N|NFRKB_ENST00000304521.5_Splice_Site_p.D248N	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	248					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)	p.D273N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TGGTTCTCACCTGCAGTTTTC	0.572																																																1	Substitution - Missense(1)	kidney(1)											65	73	70					11																	129754640		2201	4297	6498	SO:0001630	splice_region_variant	4798				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.742+1G>A	11.37:g.129754640C>T			Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256144	0.59321	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.46	5.46	0.80206	.	0.059119	0.64402	D	0.000001	T	0.63710	0.2534	L	0.27053	0.805	0.54753	D	0.999988	D;D;D;D	0.67145	0.993;0.993;0.996;0.996	D;D;D;D	0.79784	0.984;0.984;0.993;0.993	T	0.55655	-0.8107	9	0.10636	T	0.68	-14.3712	19.3138	0.94204	0.0:1.0:0.0:0.0	.	260;248;248;273	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	N	248;248;273;248;260	.	ENSP00000303800:D248N	D	-	1	0	NFRKB	129259850	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	5.699000	0.68310	2.561000	0.86390	0.655000	0.94253	GAT		0.572	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165	Missense_Mutation	T	129754640	C	T	129754640	5	4	315	1	0	0	0	0	0	0	1	0	10386	695	24	2	3241	2	NFRKB	11	129754640	Splice_Site	SNP	C	TCGA-BP-4163-01A-02D-1386-10	37177253	129754640	5251876	26	18764											
TENC1	23371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53448982	53448982	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr12:53448982T>G	ENST00000314250.6	+	8	825	c.535T>G	c.(535-537)Tca>Gca	p.S179A	TENC1_ENST00000314276.3_Missense_Mutation_p.S189A|TENC1_ENST00000549700.1_Missense_Mutation_p.S179A|TENC1_ENST00000552570.1_Missense_Mutation_p.S179A|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Missense_Mutation_p.S55A|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.S179A|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000451358.1_Missense_Mutation_p.S179A	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	179	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.S179A(1)|p.S189A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTTCAACCTTTCAGAGAAAAG	0.512																																																2	Substitution - Missense(2)	kidney(2)											112	111	112					12																	53448982		2203	4300	6503	SO:0001583	missense	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.535T>G	12.37:g.53448982T>G	ENSP00000319684:p.Ser179Ala		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666846	0.47677	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	4.0	4.0	0.46444	Phosphatase tensin type (1);	0.081738	0.50627	D	0.000113	D	0.98658	0.9550	M	0.83692	2.655	0.44316	D	0.997196	D;B;B;B	0.58970	0.984;0.115;0.003;0.0	D;B;B;B	0.68192	0.956;0.238;0.005;0.001	D	0.98974	1.0802	10	0.59425	D	0.04	-9.1291	11.1733	0.48584	0.0:0.0:0.0:1.0	.	179;179;189;156	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	A	55;189;179;179;179;179;179;179	ENSP00000369232:S55A;ENSP00000319756:S189A;ENSP00000319684:S179A;ENSP00000393362:S179A;ENSP00000449363:S179A;ENSP00000447021:S179A;ENSP00000449361:S179A	ENSP00000319684:S179A	S	+	1	0	TENC1	51735249	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.411000	0.66386	1.814000	0.52955	0.247000	0.18012	TCA		0.512	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		G	53448982	T	G	53448982	3	3	315	1	0	0	0	0	1	0	0	0	15763	1783	62	5	674	5	TENC1	12	53448982	Missense_Mutation	SNP	T	TCGA-BP-4163-01A-02D-1386-10		53448982	80402913	27	18765											
TDG	6996	hgsc.bcm.edu	37	12	104376608	104376608	+	Silent	SNP	G	G	A	rs61937629	byFrequency	TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr12:104376608G>A	ENST00000392872.3	+	5	744	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TDG_ENST00000266775.9_Silent_p.E166E|TDG_ENST00000542036.1_5'UTR|TDG_ENST00000544861.1_Silent_p.E27E|AC078819.1_ENST00000401157.1_RNA	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	170					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.E170E(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GGCTCAGTGAGGTCCAGCTGA	0.443								Base excision repair (BER), DNA glycosylases																																								1	Substitution - coding silent(1)	stomach(1)											124	116	118					12																	104376608		2203	4300	6503	SO:0001819	synonymous_variant	6996			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.510G>A	12.37:g.104376608G>A			Q8IUZ6|Q8IZM3	Silent	SNP	ENST00000392872.3	37	CCDS9095.1																																																																																				0.443	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			A	104376608	G	A	104376608	2	1	315	1	0	0	0	0	0	0	0	1	15730	991	35	2		2	TDG	12	104376608	Silent	SNP	G	TCGA-BP-4163-01A-02D-1386-10	50927626	104376608	29475287	28	18766											
RALGAPA1	253959	hgsc.bcm.edu	37	14	36140605	36140611	+	Frame_Shift_Del	DEL	GCTGAAG	GCTGAAG	-	rs201831397	byFrequency	TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	GCTGAAG	GCTGAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr14:36140605_36140611delGCTGAAG	ENST00000389698.3	-	25	4058_4064	c.3668_3674delCTTCAGC	c.(3667-3675)tcttcagctfs	p.SSA1223fs	RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.SSA1236fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.SSA1223fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Del_p.SSA1270fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1223					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.S1223F(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATTGAGAAAAGCTGAAGAAGCCACTCT	0.362																																																2	Substitution - Missense(2)	lung(2)							,	28,4236		0,28,2104					,	3.1	1			48	61,8193		0,61,4066	no	frameshift,frameshift	RALGAPA1	NM_194301.2,NM_014990.1	,	0,89,6170	A1A1,A1R,RR		0.739,0.6567,0.711	,	,		89,12429				SO:0001589	frameshift_variant	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3668_3674delCTTCAGC	14.37:g.36140605_36140611delGCTGAAG	ENSP00000374348:p.Ser1223fs		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Del	DEL	ENST00000389698.3	37	CCDS32065.1																																																																																				0.362	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		-	36140611	GCTGAAG	-	36140605	7	5	315	1	0	1	0	1	0	0	0	0	13019	971	34	0	2653	0	RALGAPA1	14	36140605	Frame_Shift_Del	DEL	GCTGAAG	TCGA-BP-4163-01A-02D-1386-10		36140605	71208935	29	18767											
PSMA3	5684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58737146	58737146	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr14:58737146G>A	ENST00000216455.4	+	9	691	c.601G>A	c.(601-603)Gta>Ata	p.V201I	RP11-349A22.5_ENST00000555275.1_RNA|RP11-349A22.5_ENST00000555707.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|PSMA3_ENST00000557508.1_Missense_Mutation_p.V126I|RP11-349A22.5_ENST00000554360.1_RNA|CTD-2002H8.2_ENST00000557322.1_RNA|PSMA3_ENST00000412908.2_Missense_Mutation_p.V194I|RP11-349A22.5_ENST00000555162.1_RNA|RP11-349A22.5_ENST00000556225.1_RNA|RP11-349A22.5_ENST00000556002.1_RNA	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	201					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)	p.V201I(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AATTTACATAGTACATGACGA	0.343																																																1	Substitution - Missense(1)	kidney(1)											129	129	129					14																	58737146		2203	4299	6502	SO:0001583	missense	5684				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.601G>A	14.37:g.58737146G>A	ENSP00000216455:p.Val201Ile		B2RCK6|Q86U83|Q8N1D8|Q9BS70	Missense_Mutation	SNP	ENST00000216455.4	37	CCDS9731.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427429	0.62733	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508;ENST00000553677	T;T;T	0.23348	1.91;1.91;1.91	5.0	5.0	0.66597	.	0.053954	0.64402	D	0.000001	T	0.35189	0.0923	M	0.72624	2.21	0.80722	D	1	B;B	0.24533	0.086;0.105	B;B	0.29077	0.059;0.098	T	0.20840	-1.0263	10	0.56958	D	0.05	7.8973	18.4404	0.90665	0.0:0.0:1.0:0.0	.	194;201	P25788-2;P25788	.;PSA3_HUMAN	I	201;194;126;29	ENSP00000216455:V201I;ENSP00000390491:V194I;ENSP00000452056:V126I	ENSP00000216455:V201I	V	+	1	0	PSMA3	57806899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.762000	0.94881	0.591000	0.81541	GTA		0.343	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1	NM_002788		A	58737146	G	A	58737146	3	1	315	1	0	0	0	0	1	0	0	0	12673	1029	36	2	635	2	PSMA3	14	58737146	Missense_Mutation	SNP	G	TCGA-BP-4163-01A-02D-1386-10	22596541	58737146	48612394	30	18768											
PCNX	22990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	71571970	71571970	+	Silent	SNP	A	A	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr14:71571970A>T	ENST00000304743.2	+	33	6560	c.6114A>T	c.(6112-6114)ggA>ggT	p.G2038G	PCNX_ENST00000439984.3_Silent_p.G1927G|PCNX_ENST00000238570.5_Silent_p.G1966G|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2038						integral component of membrane (GO:0016021)		p.G2038G(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGGTTGCGGAGCTGGATGTA	0.428																																																1	Substitution - coding silent(1)	kidney(1)											99	89	92					14																	71571970		2203	4300	6503	SO:0001819	synonymous_variant	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6114A>T	14.37:g.71571970A>T			B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	A	9.885	1.202588	0.22121	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.51	-1.63	0.08345	.	.	.	.	.	T	0.43411	0.1246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30446	-0.9978	4	.	.	.	.	4.1021	0.10018	0.3564:0.0:0.2206:0.423	.	.	.	.	V	1025	.	.	E	+	2	0	PCNX	70641723	0.989000	0.36119	0.996000	0.52242	0.988000	0.76386	0.294000	0.19047	-0.187000	0.10516	0.533000	0.62120	GAG		0.428	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		T	71571970	A	T	71571970	2	4	315	1	0	0	0	0	0	0	0	1	11593	291	11	5		5	PCNX	14	71571970	Silent	SNP	A	TCGA-BP-4163-01A-02D-1386-10	12834824	71571970	35777570	31	18769											
IVD	3712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40707145	40707145	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr15:40707145A>T	ENST00000249760.2	+	8	1185	c.842A>T	c.(841-843)gAc>gTc	p.D281V	IVD_ENST00000479013.2_Missense_Mutation_p.D254V|IVD_ENST00000487418.2_Missense_Mutation_p.D284V	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	281	Substrate binding.				branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)	p.D281V(1)		kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	AGTGGGCTGGACCTGGAGCGG	0.622																																					GBM(31;293 617 7486 32527 34655)											1	Substitution - Missense(1)	kidney(1)											66	57	60					15																	40707145		2203	4300	6503	SO:0001583	missense	3712			AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"isovaleryl Coenzyme A dehydrogenase", "isovaleryl CoA dehydrogenase"			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.842A>T	15.37:g.40707145A>T	ENSP00000249760:p.Asp281Val		B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.2|25.2	4.613919|4.613919	0.87359|0.87359	.|.	.|.	ENSG00000128928|ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418;ENST00000497252|ENST00000473112	D;D;D|.	0.96491|.	-4.03;-4.03;-4.03|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);|.	0.086607|.	0.85682|.	D|.	0.000000|.	D|D	0.85557|0.85557	0.5724|0.5724	M|M	0.93720|0.93720	3.45|3.45	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.996;0.999|.	D|D	0.89568|0.89568	0.3811|0.3811	10|5	0.87932|.	D|.	0|.	.|.	14.9454|14.9454	0.71026|0.71026	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	281;254|.	P26440;B3KVI7|.	IVD_HUMAN;.|.	V|S	281;254;284;51|201	ENSP00000249760:D281V;ENSP00000417990:D254V;ENSP00000418397:D284V|.	ENSP00000249760:D281V|.	D|T	+|+	2|1	0|0	IVD|IVD	38494437|38494437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.686000|8.686000	0.91250|0.91250	2.123000|2.123000	0.65237|0.65237	0.402000|0.402000	0.26972|0.26972	GAC|ACC		0.622	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	40707145	A	T	40707145	3	4	315	1	0	0	0	0	1	0	0	0	7930	275	10	5	881	5	IVD	15	40707145	Missense_Mutation	SNP	A	TCGA-BP-4163-01A-02D-1386-10		40707145	61824247	32	18770											
DNAJC17	55192	broad.mit.edu;hgsc.bcm.edu	37	15	41065992	41065992	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr15:41065992A>T	ENST00000220496.4	-	10	755	c.725T>A	c.(724-726)cTg>cAg	p.L242Q		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	242	RRM.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L242Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAAATCTTCAGAGGGTTATC	0.592																																																1	Substitution - Missense(1)	kidney(1)											43	37	39					15																	41065992		2203	4300	6503	SO:0001583	missense	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.725T>A	15.37:g.41065992A>T	ENSP00000220496:p.Leu242Gln			Missense_Mutation	SNP	ENST00000220496.4	37	CCDS10065.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303309	0.81136	.	.	ENSG00000104129	ENST00000220496	T	0.26957	1.7	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);	0.148390	0.47093	D	0.000251	T	0.59649	0.2209	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69982	-0.4997	10	0.87932	D	0	.	14.8314	0.70151	1.0:0.0:0.0:0.0	.	242	Q9NVM6	DJC17_HUMAN	Q	242	ENSP00000220496:L242Q	ENSP00000220496:L242Q	L	-	2	0	DNAJC17	38853284	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.450000	0.80656	2.181000	0.69327	0.459000	0.35465	CTG		0.592	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163		T	41065992	A	T	41065992	3	4	315	1	0	0	0	0	1	0	0	0	4638	188	7	5	197	5	DNAJC17	15	41065992	Missense_Mutation	SNP	A	TCGA-BP-4163-01A-02D-1386-10	358847	41065992	61465400	33	18771											
MAP1A	4130	broad.mit.edu	37	15	43818938	43818938	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr15:43818938A>G	ENST00000300231.5	+	4	5717	c.5267A>G	c.(5266-5268)aAg>aGg	p.K1756R	MAP1A_ENST00000399453.1_Missense_Mutation_p.K1756R|MAP1A_ENST00000382031.1_Missense_Mutation_p.K1994R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1756					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.K1756R(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCAGACTTCAAGGATTTCCAG	0.572																																																1	Substitution - Missense(1)	kidney(1)											63	65	65					15																	43818938		1931	4129	6060	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5267A>G	15.37:g.43818938A>G	ENSP00000300231:p.Lys1756Arg		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.645349	0.47258	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01629	4.72;4.72;4.72	4.46	4.46	0.54185	.	0.000000	0.35708	N	0.003038	T	0.03783	0.0107	L	0.36672	1.1	0.34321	D	0.686581	D	0.58268	0.982	P	0.58013	0.831	T	0.56920	-0.7899	10	0.14656	T	0.56	-15.1748	12.1342	0.53961	1.0:0.0:0.0:0.0	.	1756	P78559	MAP1A_HUMAN	R	1994;1756;1756	ENSP00000371462:K1994R;ENSP00000382380:K1756R;ENSP00000300231:K1756R	ENSP00000300231:K1756R	K	+	2	0	MAP1A	41606230	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.030000	0.64128	1.882000	0.54519	0.374000	0.22700	AAG		0.572	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		G	43818938	A	G	43818938	3	3	315	1	0	0	0	0	1	0	0	0	9229	72	3	3	5269	3	MAP1A	15	43818938	Missense_Mutation	SNP	A	TCGA-BP-4163-01A-02D-1386-10	2752946	43818938	58712454	34	18772											
RAB8B	51762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63555808	63555808	+	Missense_Mutation	SNP	C	C	T	rs373850007		TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr15:63555808C>T	ENST00000321437.4	+	8	770	c.614C>T	c.(613-615)tCg>tTg	p.S205L	RAB8B_ENST00000448330.2_Missense_Mutation_p.S188L	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	205					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)	p.S205L(1)		kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						TTTCGTTGCTCGCTACTTTGA	0.458																																																1	Substitution - Missense(1)	kidney(1)											94	82	86					15																	63555808		2203	4300	6503	SO:0001583	missense	51762			AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"RAB, member RAS oncogene"	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.614C>T	15.37:g.63555808C>T	ENSP00000312734:p.Ser205Leu		Q5JPC4|Q9P293	Missense_Mutation	SNP	ENST00000321437.4	37	CCDS10183.1	.	.	.	.	.	.	.	.	.	.	C	5.636	0.301976	0.10678	.	.	ENSG00000166128	ENST00000321437;ENST00000448330	T;T	0.65549	0.03;-0.16	5.79	2.95	0.34219	.	0.771549	0.12463	N	0.466661	T	0.40119	0.1104	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.25916	-1.0118	10	0.41790	T	0.15	.	8.6988	0.34312	0.0:0.7123:0.0:0.2877	.	188;205	F5GY21;Q92930	.;RAB8B_HUMAN	L	205;188	ENSP00000312734:S205L;ENSP00000405463:S188L	ENSP00000312734:S205L	S	+	2	0	RAB8B	61342861	0.011000	0.17503	0.764000	0.31436	0.239000	0.25481	0.620000	0.24403	0.392000	0.25172	-0.918000	0.02743	TCG		0.458	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	NM_016530		T	63555808	C	T	63555808	3	4	315	1	0	0	0	0	1	0	0	0	12963	893	31	1	644	1	RAB8B	15	63555808	Missense_Mutation	SNP	C	TCGA-BP-4163-01A-02D-1386-10	19736870	63555808	38975584	35	18773											
LRRK1	79705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	101601457	101601457	+	Silent	SNP	G	G	A			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr15:101601457G>A	ENST00000388948.3	+	30	5120	c.4761G>A	c.(4759-4761)caG>caA	p.Q1587Q	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.Q1584Q	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.Q1599Q(1)|p.Q1587Q(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGAGCTGCCAGCTCCAGGTCC	0.617																																																2	Substitution - coding silent(2)	kidney(2)											68	80	76					15																	101601457		2090	4222	6312	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4761G>A	15.37:g.101601457G>A				Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																				0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101601457	G	A	101601457	2	1	315	1	0	0	0	0	0	0	0	1	9034	962	34	2		2	LRRK1	15	101601457	Silent	SNP	G	TCGA-BP-4163-01A-02D-1386-10	38045649	101601457	929935	36	18774											
MPV17L	255027	broad.mit.edu;hgsc.bcm.edu	37	16	15501819	15501819	+	Silent	SNP	A	A	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr16:15501819A>G	ENST00000396385.3	+	4	560	c.441A>G	c.(439-441)caA>caG	p.Q147Q	RP11-1021N1.1_ENST00000568222.1_Intron|MPV17L_ENST00000287594.7_Missense_Mutation_p.M124V	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	147					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)	p.M124V(1)|p.Q147Q(1)		kidney(2)|large_intestine(1)|skin(1)	4						TTCCTGTTCAATGGAGAACAG	0.498																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)											82	71	75					16																	15501819		2197	4300	6497	SO:0001819	synonymous_variant	255027			DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.441A>G	16.37:g.15501819A>G			B4DDY1|Q6P7T6|Q8N8E9	Missense_Mutation	SNP	ENST00000396385.3	37	CCDS45421.1	.	.	.	.	.	.	.	.	.	.	.	10.01	1.233637	0.22626	.	.	ENSG00000156968	ENST00000287594	D	0.91996	-2.95	5.2	-1.57	0.08506	.	.	.	.	.	D	0.82655	0.5084	.	.	.	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.67329	-0.5698	8	0.33940	T	0.23	-7.7033	2.6026	0.04870	0.1384:0.3749:0.3289:0.1578	.	124	Q2QL34-2	.	V	124	ENSP00000287594:M124V	ENSP00000287594:M124V	M	+	1	0	MPV17L	15409320	0.996000	0.38824	0.374000	0.26016	0.585000	0.36419	0.229000	0.17833	-0.098000	0.12285	-2.459000	0.00205	ATG		0.498	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422450.1	NM_173803		G	15501819	A	G	15501819	2	3	315	1	0	0	0	0	0	0	0	1	9748	101	4	3		3	MPV17L	16	15501819	Silent	SNP	A	TCGA-BP-4163-01A-02D-1386-10		15501819	74852934	37	18775											
HEATR3	55027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	50120249	50120249	+	Silent	SNP	T	T	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr16:50120249T>G	ENST00000299192.7	+	11	1688	c.1497T>G	c.(1495-1497)ctT>ctG	p.L499L	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Silent_p.L413L	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	499								p.L499L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CACAGCTGCTTTTTTCTCAAC	0.473																																																1	Substitution - coding silent(1)	kidney(1)											31	31	31					16																	50120249		2198	4300	6498	SO:0001819	synonymous_variant	55027			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1497T>G	16.37:g.50120249T>G			A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Silent	SNP	ENST00000299192.7	37	CCDS10739.1																																																																																				0.473	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		G	50120249	T	G	50120249	2	3	315	1	0	0	0	0	0	0	0	1	7031	1828	64	5		5	HEATR3	16	50120249	Silent	SNP	T	TCGA-BP-4163-01A-02D-1386-10	34618430	50120249	40234504	38	18776											
ZFHX3	463	hgsc.bcm.edu	37	16	72992626	72992626	+	Silent	SNP	C	C	T			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr16:72992626C>T	ENST00000268489.5	-	2	2091	c.1419G>A	c.(1417-1419)gaG>gaA	p.E473E	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	473	Poly-Glu.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cctcctcctcctccgcctctt	0.577																																																0													41	44	43					16																	72992626		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1419G>A	16.37:g.72992626C>T			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.577	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72992626	C	T	72992626	2	4	315	1	0	0	0	0	0	0	0	1	17639	680	24	2		2	ZFHX3	16	72992626	Silent	SNP	C	TCGA-BP-4163-01A-02D-1386-10	22872377	72992626	17362127	39	18777											
RARA	5914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38508302	38508302	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr17:38508302C>A	ENST00000254066.5	+	5	1065	c.610C>A	c.(610-612)Cag>Aag	p.Q204K	RARA_ENST00000394089.2_Missense_Mutation_p.Q204K|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394081.3_Missense_Mutation_p.Q199K|RARA_ENST00000394086.3_Missense_Mutation_p.Q220K|RARA_ENST00000425707.3_Missense_Mutation_p.Q107K	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	204	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.Q204K(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGCCCTCTGCCAGCTGGGCAA	0.642			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																		Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	1	Substitution - Missense(1)	kidney(1)											29	28	29					17																	38508302		2203	4298	6501	SO:0001583	missense	5914			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.610C>A	17.37:g.38508302C>A	ENSP00000254066:p.Gln204Lys		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706879	0.48412	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000420042	T;D;T;T;T	0.92647	1.34;-3.08;1.34;1.34;1.34	4.69	4.69	0.59074	Nuclear hormone receptor, ligand-binding (2);	.	.	.	.	D	0.90051	0.6893	M	0.78916	2.43	0.80722	D	1	P;B;B	0.51933	0.949;0.001;0.017	B;B;B	0.33392	0.163;0.001;0.008	D	0.91668	0.5348	9	0.54805	T	0.06	.	16.3889	0.83525	0.0:1.0:0.0:0.0	.	107;199;204	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	K	204;107;204;220;199;91	ENSP00000254066:Q204K;ENSP00000389993:Q107K;ENSP00000377649:Q204K;ENSP00000377648:Q220K;ENSP00000377643:Q199K	ENSP00000254066:Q204K	Q	+	1	0	RARA	35761828	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.755000	0.85180	2.140000	0.66376	0.467000	0.42956	CAG		0.642	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			A	38508302	C	A	38508302	3	1	315	1	0	0	0	0	1	0	0	0	13058	595	21	4	791	4	RARA	17	38508302	Missense_Mutation	SNP	C	TCGA-BP-4163-01A-02D-1386-10		38508302	42686908	40	18778											
KRT15	3866	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368	byFrequency	TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19121	0.001		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	prostate(1)|kidney(1)|central_nervous_system(1)						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75	75	75		613	2.7	1	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		T	39673185	C	T	39673185	3	4	315	1	0	0	0	0	1	0	0	0	8454	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-BP-4163-01A-02D-1386-10	1164883	39673185	41522025	41	18779											
MLX	6945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40721610	40721610	+	Silent	SNP	A	A	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr17:40721610A>G	ENST00000246912.4	+	6	677	c.624A>G	c.(622-624)ctA>ctG	p.L208L	MLX_ENST00000346833.4_Silent_p.L124L|MLX_ENST00000435881.2_Silent_p.L154L	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	208					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L208L(1)		kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCACCGCCCTAAAGATCATGA	0.498																																					GBM(121;657 1601 4665 24731 34640)											1	Substitution - coding silent(1)	kidney(1)											79	76	77					17																	40721610		2203	4300	6503	SO:0001819	synonymous_variant	6945			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	11645	protein-coding gene	gene with protein product		602976	"transcription factor-like 4", "MAX-like protein X"	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.624A>G	17.37:g.40721610A>G			A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Silent	SNP	ENST00000246912.4	37	CCDS11430.1																																																																																				0.498	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607		G	40721610	A	G	40721610	2	3	315	1	0	0	0	0	0	0	0	1	9637	349	13	3		3	MLX	17	40721610	Silent	SNP	A	TCGA-BP-4163-01A-02D-1386-10	1048425	40721610	40473600	42	18780											
G6PC	2538	hgsc.bcm.edu;ucsc.edu	37	17	41062994	41062995	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr17:41062994_41062995insA	ENST00000253801.2	+	5	704_705	c.625_626insA	c.(625-627)tatfs	p.Y209fs	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	209			Y -> C (in GSD1A; complete loss of activity and reduced enzyme stability). {ECO:0000269|PubMed:15542400}.		carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCTCAAGAAATATTTTCTCATT	0.475																																																0			GRCh37	CM043503	G6PC	M																																				SO:0001589	frameshift_variant	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.626dupA	17.37:g.41062995_41062995dupA	ENSP00000253801:p.Tyr209fs		A1L4C0|B4E1C3|K7EL82	Frame_Shift_Del	INS	ENST00000253801.2	37	CCDS11446.1																																																																																				0.475	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		A	41062995	-	A	41062994	7	5	315	1	0	1	1	0	0	0	0	0	6145	1406	49	0	643	0	G6PC	17	41062994	Frame_Shift_Ins	INS	-	TCGA-BP-4163-01A-02D-1386-10	341384	41062994	40132216	43	18781											
CCDC47	57003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61829787	61829787	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr17:61829787G>A	ENST00000225726.5	-	11	1478	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	RP11-51F16.8_ENST00000580553.1_5'Flank|CCDC47_ENST00000403162.3_Missense_Mutation_p.P366S|CCDC47_ENST00000582252.1_Missense_Mutation_p.P366S	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	366					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.P366S(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CCTGAGCCAGGCACTGGAAAA	0.378																																																1	Substitution - Missense(1)	kidney(1)											78	76	77					17																	61829787		2203	4300	6503	SO:0001583	missense	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1096C>T	17.37:g.61829787G>A	ENSP00000225726:p.Pro366Ser		B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674458	0.47781	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.75213	0.3819	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75693	-0.3229	9	0.54805	T	0.06	-10.5104	17.7273	0.88369	0.0:0.0:1.0:0.0	.	366;366	Q96A33-2;Q96A33	.;CCD47_HUMAN	S	366	.	ENSP00000225726:P366S	P	-	1	0	CCDC47	59183519	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.645000	0.98471	2.658000	0.90341	0.655000	0.94253	CCT		0.378	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		A	61829787	G	A	61829787	3	1	315	1	0	0	0	0	1	0	0	0	2820	1203	42	2	367	2	CCDC47	17	61829787	Missense_Mutation	SNP	G	TCGA-BP-4163-01A-02D-1386-10	20766793	61829787	19365423	44	18782											
MRPS7	51081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73258639	73258639	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr17:73258639G>C	ENST00000245539.6	+	2	372	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	GGA3_ENST00000245541.6_5'Flank|MRPS7_ENST00000579761.1_Missense_Mutation_p.E49Q|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000538886.1_5'Flank|GGA3_ENST00000582717.1_5'Flank|MRPS7_ENST00000579002.1_Missense_Mutation_p.E78Q|GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000537686.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	49					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.E49Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GATTGACAAGGAATATTATCG	0.512																																																1	Substitution - Missense(1)	kidney(1)											145	150	149					17																	73258639		2203	4300	6503	SO:0001583	missense	51081			AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"Mitochondrial ribosomal proteins / small subunits"	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.145G>C	17.37:g.73258639G>C	ENSP00000245539:p.Glu49Gln		B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	G	9.833	1.189043	0.21954	.	.	ENSG00000125445	ENST00000245539	T	0.46819	0.86	5.57	3.59	0.41128	Ribosomal protein S7 domain (2);	0.368824	0.33496	N	0.004851	T	0.39279	0.1072	L	0.42686	1.345	0.48087	D	0.999586	B	0.26672	0.156	B	0.25759	0.063	T	0.17653	-1.0362	10	0.40728	T	0.16	-3.2929	11.9433	0.52913	0.1407:0.0:0.8593:0.0	.	49	Q9Y2R9	RT07_HUMAN	Q	49	ENSP00000245539:E49Q	ENSP00000245539:E49Q	E	+	1	0	MRPS7	70770234	1.000000	0.71417	0.474000	0.27266	0.033000	0.12548	7.756000	0.85195	0.720000	0.32209	-0.142000	0.14014	GAA		0.512	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		C	73258639	G	C	73258639	3	2	315	1	0	0	0	0	1	0	0	0	9850	1175	41	4	151	4	MRPS7	17	73258639	Missense_Mutation	SNP	G	TCGA-BP-4163-01A-02D-1386-10	11428852	73258639	7936571	45	18783											
DNAH17	100996295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76496393	76496393	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr17:76496393G>A	ENST00000598378.1	+	1	1483	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Silent_p.D1873D|DNAH17_ENST00000389840.5_Silent_p.D1864D					DNAH17 antisense RNA 1									p.D1873D(1)									GTACCTTGTAGTCCATCTGCT	0.617																																																1	Substitution - coding silent(1)	kidney(1)											21	24	23					17																	76496393		1995	4192	6187	SO:0001583	missense	8632					17q25.3	2014-02-12	2013-05-21		ENSG00000268470	ENSG00000267432		"Long non-coding RNAs"	48594	non-coding RNA	RNA, long non-coding							Standard	NR_102401		Approved				OTTHUMG00000177588	ENST00000598378.1:c.325G>A	17.37:g.76496393G>A	ENSP00000472049:p.Val109Ile			Silent	SNP	ENST00000598378.1	37																																																																																					0.617	DNAH17-AS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				A	76496393	G	A	76496393	3	1	315	1	0	0	0	0	1	0	0	0	4603	1020	36	2	7938	2	DNAH17	17	76496393	Missense_Mutation	SNP	G	TCGA-BP-4163-01A-02D-1386-10	3237754	76496393	4698817	46	18784											
IFI30	10437	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18286140	18286140	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr19:18286140G>C	ENST00000407280.3	+	3	510	c.335G>C	c.(334-336)aGg>aCg	p.R112T	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	112					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 II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)	p.R112T(1)		endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GTCAGTGGCAGGTGGGAGTTC	0.622																																																1	Substitution - Missense(1)	kidney(1)											25	30	29					19																	18286140		2036	4178	6214	SO:0001583	missense	10437			J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"gamma-interferon-inducible lysosomal thiol reductase", "interferon gamma-inducible protein 30 preproprotein"	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.335G>C	19.37:g.18286140G>C	ENSP00000384886:p.Arg112Thr		Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	37	CCDS46015.1	.	.	.	.	.	.	.	.	.	.	G	0.678	-0.799485	0.02841	.	.	ENSG00000216490	ENST00000407280	.	.	.	5.19	-1.63	0.08345	.	.	.	.	.	T	0.16385	0.0394	N	0.05510	-0.035	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.22243	-1.0222	8	0.37606	T	0.19	-44.5345	6.3541	0.21393	0.4257:0.3178:0.2565:0.0	.	112	P13284	GILT_HUMAN	T	112	.	ENSP00000384886:R112T	R	+	2	0	IFI30	18147140	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.124000	0.11724	-0.339000	0.08088	AGG		0.622	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		C	18286140	G	C	18286140	3	2	315	1	0	0	0	0	1	0	0	0	7517	1000	35	4	345	4	IFI30	19	18286140	Missense_Mutation	SNP	G	TCGA-BP-4163-01A-02D-1386-10		18286140	40842843	47	18785											
SULT2B1	6820	broad.mit.edu;ucsc.edu	37	19	49096055	49096055	+	Silent	SNP	C	C	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr19:49096055C>G	ENST00000201586.2	+	5	805	c.627C>G	c.(625-627)acC>acG	p.T209T	SULT2B1_ENST00000323090.4_Silent_p.T194T|SULT2B1_ENST00000594274.1_3'UTR	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	209					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)	p.T209T(1)|p.T194T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TATTTATCACCTACGAGGAGC	0.597																																																2	Substitution - coding silent(2)	kidney(2)											95	66	76					19																	49096055		2203	4299	6502	SO:0001819	synonymous_variant	6820			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"Sulfotransferases, cytosolic"	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.627C>G	19.37:g.49096055C>G			O00205|O75814	Silent	SNP	ENST00000201586.2	37	CCDS12723.1																																																																																				0.597	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605		G	49096055	C	G	49096055	2	3	315	1	0	0	0	0	0	0	0	1	15387	668	24	4		4	SULT2B1	19	49096055	Silent	SNP	C	TCGA-BP-4163-01A-02D-1386-10	30809915	49096055	10032928	48	18786											
ZIK1	284307	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58101848	58101848	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr19:58101848A>C	ENST00000597850.1	+	4	884	c.669A>C	c.(667-669)aaA>aaC	p.K223N	ZIK1_ENST00000536878.2_Missense_Mutation_p.K210N|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.K168N	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K223N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCAGGCACAAACACACTCCTG	0.463																																																1	Substitution - Missense(1)	kidney(1)											65	64	64					19																	58101848		2203	4300	6503	SO:0001583	missense	284307			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"Zinc fingers, C2H2-type", "-"	33104	protein-coding gene	gene with protein product			"zinc finger protein interacting with K protein 1 homolog (mouse)"				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.669A>C	19.37:g.58101848A>C	ENSP00000472867:p.Lys223Asn		O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	A	9.452	1.090947	0.20471	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.30448	1.53	3.58	-1.44	0.08856	.	.	.	.	.	T	0.13457	0.0326	N	0.20445	0.575	0.09310	N	1	B;B	0.29162	0.235;0.124	B;B	0.22386	0.039;0.022	T	0.20505	-1.0273	9	0.30078	T	0.28	.	1.0814	0.01644	0.402:0.1546:0.2926:0.1508	.	210;223	F5H435;Q3SY52	.;ZIK1_HUMAN	N	210;204;223	ENSP00000438487:K210N	ENSP00000303820:K223N	K	+	3	2	ZIK1	62793660	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.556000	0.00924	-0.526000	0.06383	0.528000	0.53228	AAA		0.463	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		C	58101848	A	C	58101848	3	2	315	1	0	0	0	0	1	0	0	0	17688	40	2	5	683	5	ZIK1	19	58101848	Missense_Mutation	SNP	A	TCGA-BP-4163-01A-02D-1386-10	9005793	58101848	1027135	49	18787											
TH1L	51497	hgsc.bcm.edu;ucsc.edu	37	20	57567073	57567076	+	Splice_Site	DEL	TAGG	TAGG	-			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	TAGG	TAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr20:57567073_57567076delTAGG	ENST00000344018.3	+	10	1281_1283	c.1254_1256delTAGG	c.(1252-1257)attagg>atg	p.IR418fs	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000602795.1_Splice_Site_p.IR427fs			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	418					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											ATCAGTGTATTAGGTAAGCAAAAC	0.407																																																0																																										SO:0001630	splice_region_variant	51497			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1256+1TAGG>-	20.37:g.57567073_57567076delTAGG			B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Frame_Shift_Del	DEL	ENST00000344018.3	37																																																																																					0.407	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976	Frame_Shift_Del	-	57567076	TAGG	-	57567073	8	5	315	1	0	1	0	1	0	0	1	0	15844	1742	61	0	1292	0	TH1L	20	57567073	Splice_Site	DEL	TAGG	TCGA-BP-4163-01A-02D-1386-10		57567073	5458447	50	18788											
C22orf30	253143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32108234	32108234	+	Missense_Mutation	SNP	C	C	T	rs143043548		TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chr22:32108234C>T	ENST00000327423.6	-	4	5780	c.5591G>A	c.(5590-5592)cGg>cAg	p.R1864Q	PRR14L_ENST00000434485.1_Missense_Mutation_p.R1864Q|PRR14L_ENST00000397493.2_Missense_Mutation_p.R1864Q	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1864								p.R1864Q(2)|p.R17Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GGCTGGAGACCGTAACCCTTT	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20121	0.0		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	kidney(3)						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	131	125	127		5591	3.4	0.3	22	dbSNP_134	127	2,8598	2.2+/-6.3	0,2,4298	no	missense	PRR14L	NM_173566.2	43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	1864/2152	32108234	3,13003	2203	4300	6503	SO:0001583	missense	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.5591G>A	22.37:g.32108234C>T	ENSP00000331845:p.Arg1864Gln		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	CCDS13900.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.83	2.653243	0.47362	2.27E-4	2.33E-4	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.35789	1.29;1.29;1.29	5.66	3.36	0.38483	.	0.238980	0.36444	N	0.002596	T	0.47432	0.1445	L	0.45581	1.43	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.66497	0.905;0.905;0.944	T	0.30297	-0.9983	10	0.59425	D	0.04	-5.6263	9.575	0.39452	0.0:0.8225:0.0:0.1775	.	1864;1864;1864	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	Q	1864	ENSP00000380630:R1864Q;ENSP00000331845:R1864Q;ENSP00000388314:R1864Q	ENSP00000331845:R1864Q	R	-	2	0	PRR14L	30438234	0.689000	0.27690	0.272000	0.24630	0.483000	0.33249	0.941000	0.29005	0.613000	0.30089	0.655000	0.94253	CGG		0.532	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		T	32108234	C	T	32108234	3	4	315	1	0	0	0	0	1	0	0	0	2144	652	23	1	888	1	C22orf30	22	32108234	Missense_Mutation	SNP	C	TCGA-BP-4163-01A-02D-1386-10		32108234	19196332	51	18789											
PLS3	5358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	114864223	114864223	+	Silent	SNP	A	A	G			TCGA-BP-4163-01A-02D-1386-10	TCGA-BP-4163-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6c16047c-68f3-4023-bc90-6d54cad76b07	96e16b66-2582-47e7-a107-858bf7cbf242	g.chrX:114864223A>G	ENST00000420625.2	+	5	578	c.444A>G	c.(442-444)ccA>ccG	p.P148P	PLS3_ENST00000355899.3_Silent_p.P148P|PLS3_ENST00000289290.3_Silent_p.P103P|PLS3_ENST00000537301.1_Silent_p.P126P|PLS3_ENST00000539310.1_Silent_p.P103P	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	148	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.P148P(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ATGTTATACCAATGAACCCTA	0.333																																					Colon(160;1047 1864 8490 12969 29601)											1	Substitution - coding silent(1)	kidney(1)											222	197	205					X																	114864223		2203	4300	6503	SO:0001819	synonymous_variant	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"EF-hand domain containing"	9091	protein-coding gene	gene with protein product		300131	"plastin 3 (T isoform)"			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.444A>G	X.37:g.114864223A>G			A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Silent	SNP	ENST00000420625.2	37	CCDS14568.1																																																																																				0.333	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			G	114864223	A	G	114864223	2	3	315	1	0	0	0	0	0	0	0	1	12110	117	5	3		3	PLS3	23	114864223	Silent	SNP	A	TCGA-BP-4163-01A-02D-1386-10		114864223	40406337	52	18790											
CDKN2A	1029	hgsc.bcm.edu	37	9	21970901	21970901	+	Splice_Site	SNP	C	C	T	rs45476696		TCGA-BP-4163-01A-02W-1382-10	TCGA-BP-4163-11A-01W-1244-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	03533768-49b2-4a13-bf8a-cddce7e8aa43	0c0c2e5a-75e4-4968-8e2a-3a6da1cabcc6	g.chr9:21970901C>T	ENST00000304494.5	-	2	727	c.457G>A	c.(457-459)Gac>Aac	p.D153N	CDKN2A_ENST00000578845.2_Splice_Site_p.D102N|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000498124.1_Splice_Site_p.E153K|CDKN2A_ENST00000479692.2_Splice_Site_p.V102I|CDKN2A_ENST00000497750.1_Missense_Mutation_p.G102S|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000446177.1_Splice_Site_p.E153K|CDKN2A_ENST00000494262.1_Splice_Site_p.D102N|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498628.2_Splice_Site_p.D102N	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	153					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(16)|p.D153N(1)|p.0(1)|p.E153K(1)|p.D153Y(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTCCTCACCTGAGGGACCT	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																						1335	Whole gene deletion(1316)|Unknown(16)|Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|breast(31)|kidney(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CS972842	CDKN2A	S	rs45476696						34	35	34					9																	21970901		2203	4300	6503	SO:0001630	splice_region_variant	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.457+1G>A	9.37:g.21970901C>T			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.26|10.26	1.301003|1.301003	0.23650|0.23650	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494|ENST00000446177	T|T	0.78126|0.76578	-1.15|-1.03	4.21|4.21	3.31|3.31	0.37934|0.37934	.|.	.|.	.|.	.|.	.|.	T|T	0.75140|0.75140	0.3809|0.3809	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	B|.	0.13594|.	0.008|.	B|.	0.12156|.	0.007|.	T|T	0.74266|0.74266	-0.3721|-0.3721	9|7	0.66056|0.48119	D|T	0.02|0.1	.|.	9.7139|9.7139	0.40263|0.40263	0.2066:0.7934:0.0:0.0|0.2066:0.7934:0.0:0.0	rs45476696|rs45476696	153|.	P42771|.	CD2A1_HUMAN|.	N|K	153|153	ENSP00000307101:D153N|ENSP00000394932:E153K	ENSP00000307101:D153N|ENSP00000394932:E153K	D|E	-|-	1|1	0|0	CDKN2A|CDKN2A	21960901|21960901	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.015000|0.015000	0.08874|0.08874	3.892000|3.892000	0.56235|0.56235	1.376000|1.376000	0.46267|0.46267	-0.122000|-0.122000	0.15005|0.15005	GAC|GAA		0.597	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Missense_Mutation	T	21970901	C	T	21970901	5	4	316	1	0	0	0	0	0	0	1	0	3163	695	24	2	21	2	CDKN2A	9	21970901	Splice_Site	SNP	C	TCGA-BP-4163-01A-02W-1382-10		21970901	119242530	1	18791											
S100PBP	64766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33292267	33292267	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr1:33292267T>G	ENST00000373475.5	+	3	821	c.567T>G	c.(565-567)aaT>aaG	p.N189K	S100PBP_ENST00000373476.1_Missense_Mutation_p.N189K|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Missense_Mutation_p.N189K	NM_022753.3	NP_073590.2			S100P binding protein									p.N189K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTAGCCCAAATGAAAGCAAAC	0.443																																																1	Substitution - Missense(1)	kidney(1)											71	76	75					1																	33292267		2203	4300	6503	SO:0001583	missense	64766			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.567T>G	1.37:g.33292267T>G	ENSP00000362574:p.Asn189Lys			Missense_Mutation	SNP	ENST00000373475.5	37	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	T	7.648	0.682369	0.14907	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689	.	.	.	5.32	1.79	0.24919	.	0.442058	0.24147	N	0.041117	T	0.24586	0.0596	L	0.32530	0.975	0.22903	N	0.99858	B;B	0.19583	0.001;0.037	B;B	0.19148	0.003;0.024	T	0.10019	-1.0648	8	.	.	.	-11.5554	3.2516	0.06816	0.1715:0.1801:0.0:0.6484	.	189;189	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	K	189	.	.	N	+	3	2	S100PBP	33064854	0.920000	0.31207	0.935000	0.37517	0.156000	0.22039	0.244000	0.18124	0.543000	0.28864	0.533000	0.62120	AAT		0.443	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		G	33292267	T	G	33292267	3	3	317	1	0	0	0	0	1	0	0	0	13797	1461	51	5	569	5	S100PBP	1	33292267	Missense_Mutation	SNP	T	TCGA-BP-4164-01A-02D-1386-10		33292267	215958354	1	18792											
KIAA0754	643314	hgsc.bcm.edu	37	1	39879397	39879435	+	In_Frame_Del	DEL	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	-	rs371382486|rs55976345|rs541496808|rs199726261|rs548996855|rs112569629|rs201613510	byFrequency	TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr1:39879397_39879435delGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	ENST00000530275.1	+	1	3247_3285	c.3052_3090delGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	c.(3052-3090)gaggaatccgcctccgcagctgttgcagtgcccacccccdel	p.EESASAAVAVPTP1018del	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1018	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCCACCCCAGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCCGAGGAATCTG	0.682																																																0									,,	832,2850		248,336,1257					,,	0	0			18	1888,6000		448,992,2504	no	intron,coding,intron	MACF1,KIAA0754	NM_033044.3,NM_015038.1,NM_012090.4	,,	696,1328,3761	A1A1,A1R,RR		23.9351,22.5964,23.5091	,,	,,		2720,8850				SO:0001651	inframe_deletion	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3052_3090delGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	1.37:g.39879397_39879435delGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	ENSP00000431179:p.Glu1018_Pro1030del		E9PMC2|Q6ZSB2	In_Frame_Del	DEL	ENST00000530275.1	37																																																																																					0.682	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		-	39879435	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	-	39879397	7	5	317	1	0	1	0	1	0	0	0	0	8194	943	33	0	3462	0	KIAA0754	1	39879397	In_Frame_Del	DEL	GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC	TCGA-BP-4164-01A-02D-1386-10	6587130	39879397	209371224	2	18793											
ECHDC2	55268	broad.mit.edu;hgsc.bcm.edu	37	1	53387308	53387308	+	Missense_Mutation	SNP	G	G	T	rs200668547		TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr1:53387308G>T	ENST00000371522.4	-	1	131	c.38C>A	c.(37-39)cCc>cAc	p.P13H	ECHDC2_ENST00000480312.2_5'Flank|ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000358358.5_Missense_Mutation_p.P13H	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	13					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)	p.P13H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GGCCCGAAGGGGCCTCCAGGG	0.716																																																1	Substitution - Missense(1)	kidney(1)											5	6	5					1																	53387308		2029	4146	6175	SO:0001583	missense	55268			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.38C>A	1.37:g.53387308G>T	ENSP00000360577:p.Pro13His		D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700677	0.68501	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000467988	T;T;T	0.62941	0.18;-0.01;0.0	4.77	2.85	0.33270	.	1.115570	0.06663	N	0.764846	T	0.45736	0.1357	N	0.08118	0	0.22366	N	0.999164	P;P	0.48407	0.855;0.91	B;P	0.47376	0.326;0.545	T	0.30592	-0.9973	10	0.18710	T	0.47	.	6.2081	0.20613	0.0959:0.0:0.7226:0.1815	.	13;13	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	H	13	ENSP00000360577:P13H;ENSP00000351125:P13H;ENSP00000441962:P13H	ENSP00000351125:P13H	P	-	2	0	ECHDC2	53159896	0.012000	0.17670	0.001000	0.08648	0.334000	0.28698	0.848000	0.27710	0.588000	0.29660	0.555000	0.69702	CCC		0.716	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		T	53387308	G	T	53387308	3	4	317	1	0	0	0	0	1	0	0	0	4896	1232	43	4	783	4	ECHDC2	1	53387308	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10	13507911	53387308	195863313	3	18794											
LRRC8B	23507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	90049487	90049487	+	Silent	SNP	T	T	C			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr1:90049487T>C	ENST00000330947.2	+	5	1638	c.1278T>C	c.(1276-1278)ctT>ctC	p.L426L	LRRC8B_ENST00000358200.4_Silent_p.L426L|LRRC8B_ENST00000439853.1_Silent_p.L426L|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	426					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L426L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AACTGCATCTTTTTATGCTCA	0.418																																																1	Substitution - coding silent(1)	kidney(1)											73	76	75					1																	90049487		2203	4300	6503	SO:0001819	synonymous_variant	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1278T>C	1.37:g.90049487T>C			D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	CCDS724.1																																																																																				0.418	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		C	90049487	T	C	90049487	2	2	317	1	0	0	0	0	0	0	0	1	9024	1828	64	3		3	LRRC8B	1	90049487	Silent	SNP	T	TCGA-BP-4164-01A-02D-1386-10	36662179	90049487	159201134	4	18795											
KCND3	3752	broad.mit.edu	37	1	112524688	112524688	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr1:112524688G>A	ENST00000315987.2	-	2	1140	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	KCND3_ENST00000302127.4_Missense_Mutation_p.R221C|KCND3_ENST00000369697.1_Missense_Mutation_p.R221C	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	221					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R221C(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ACCGAGTAGCGCTCCCCGCAC	0.657																																																1	Substitution - Missense(1)	kidney(1)											29	30	30					1																	112524688		2203	4300	6503	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.661C>T	1.37:g.112524688G>A	ENSP00000319591:p.Arg221Cys		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361302	0.61403	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97553	-4.43;-4.43;-4.43	5.51	4.6	0.57074	.	0.047080	0.85682	N	0.000000	D	0.97133	0.9063	M	0.84326	2.69	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.59357	0.772;0.856	D	0.97265	0.9907	10	0.87932	D	0	.	7.5446	0.27759	0.0817:0.0:0.6508:0.2675	.	221;221	Q14D71;Q9UK17	.;KCND3_HUMAN	C	221	ENSP00000358711:R221C;ENSP00000319591:R221C;ENSP00000306923:R221C	ENSP00000306923:R221C	R	-	1	0	KCND3	112326211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.285000	0.58989	1.335000	0.45486	0.563000	0.77884	CGC		0.657	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		A	112524688	G	A	112524688	3	1	317	1	0	0	0	0	1	0	0	0	8022	1087	38	1	1334	1	KCND3	1	112524688	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10	22475201	112524688	136725933	5	18796											
C1orf116	79098	broad.mit.edu;ucsc.edu	37	1	207200938	207200938	+	Silent	SNP	G	G	C	rs551306826		TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr1:207200938G>C	ENST00000359470.5	-	2	255	c.6C>G	c.(4-6)ccC>ccG	p.P2P	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	2						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P2P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTCCCTCTCGGGCATCACCC	0.612																																																1	Substitution - coding silent(1)	kidney(1)											55	52	53					1																	207200938		2203	4300	6503	SO:0001819	synonymous_variant	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.6C>G	1.37:g.207200938G>C			C9JV41|Q658X3	Silent	SNP	ENST00000359470.5	37	CCDS1475.1																																																																																				0.612	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		C	207200938	G	C	207200938	2	2	317	1	0	0	0	0	0	0	0	1	1991	1103	39	4		4	C1orf116	1	207200938	Silent	SNP	G	TCGA-BP-4164-01A-02D-1386-10	94676250	207200938	42049683	6	18797											
TP53BP2	7159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223983623	223983623	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr1:223983623G>A	ENST00000343537.7	-	13	2909	c.2618C>T	c.(2617-2619)cCt>cTt	p.P873L	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.P106L|TP53BP2_ENST00000391878.2_Missense_Mutation_p.P744L	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	867	Pro-rich.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.P744L(1)|p.P873L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TGGGTATGGAGGGTACTCCTC	0.582																																																2	Substitution - Missense(2)	kidney(2)											94	97	96					1																	223983623		2203	4300	6503	SO:0001583	missense	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2618C>T	1.37:g.223983623G>A	ENSP00000341957:p.Pro873Leu		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756323	0.89843	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.53206	0.74;0.92;0.63	5.55	5.55	0.83447	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.70307	0.3209	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.69300	-0.5181	10	0.44086	T	0.13	.	19.5118	0.95144	0.0:0.0:1.0:0.0	.	873;867	B4DG66;Q13625	.;ASPP2_HUMAN	L	744;873;106	ENSP00000375750:P744L;ENSP00000341957:P873L;ENSP00000375751:P106L	ENSP00000341957:P873L	P	-	2	0	TP53BP2	222050246	1.000000	0.71417	0.993000	0.49108	0.808000	0.45660	9.230000	0.95299	2.634000	0.89283	0.563000	0.77884	CCT		0.582	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		A	223983623	G	A	223983623	3	1	317	1	0	0	0	0	1	0	0	0	16389	1000	35	2	810	2	TP53BP2	1	223983623	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10	16782685	223983623	25266998	7	18798											
SUCLG1	8802	broad.mit.edu;ucsc.edu	37	2	84652703	84652703	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr2:84652703A>C	ENST00000393868.2	-	8	1060	c.850T>G	c.(850-852)Tcc>Gcc	p.S284A	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	284					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.S284A(1)		kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	GCAATGAAGGACACTACAGGC	0.433																																					Ovarian(48;203 1101 37206 40305 50790)											1	Substitution - Missense(1)	kidney(1)											125	135	132					2																	84652703		2203	4300	6503	SO:0001583	missense	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.850T>G	2.37:g.84652703A>C	ENSP00000377446:p.Ser284Ala		Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	A	16.53	3.147871	0.57151	.	.	ENSG00000163541	ENST00000393868	T	0.65916	-0.18	6.16	6.16	0.99307	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	N	0.12182	0.205	0.80722	D	1	B	0.13145	0.007	B	0.30251	0.113	T	0.42865	-0.9426	10	0.27785	T	0.31	-16.6422	14.7581	0.69583	1.0:0.0:0.0:0.0	.	284	P53597	SUCA_HUMAN	A	284	ENSP00000377446:S284A	ENSP00000377446:S284A	S	-	1	0	SUCLG1	84506214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	TCC		0.433	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		C	84652703	A	C	84652703	3	2	317	1	0	0	0	0	1	0	0	0	15369	275	10	5	198	5	SUCLG1	2	84652703	Missense_Mutation	SNP	A	TCGA-BP-4164-01A-02D-1386-10		84652703	158546670	8	18799											
GALNT13	114805	broad.mit.edu;ucsc.edu	37	2	155115568	155115568	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr2:155115568G>T	ENST00000392825.3	+	8	1459	c.892G>T	c.(892-894)Gac>Tac	p.D298Y	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.D298Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	298	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D298Y(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATTTTCTATTGACAGAAACTA	0.343																																																1	Substitution - Missense(1)	kidney(1)											88	94	92					2																	155115568		2203	4300	6503	SO:0001583	missense	114805			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.892G>T	2.37:g.155115568G>T	ENSP00000376570:p.Asp298Tyr		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921990	0.92319	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59906	0.23;0.23	5.85	5.85	0.93711	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.82254	0.4997	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.76494	0.973;0.998;0.99;0.999	P;D;D;D	0.71870	0.818;0.96;0.917;0.975	D	0.85845	0.1400	10	0.87932	D	0	.	19.1513	0.93491	0.0:0.0:1.0:0.0	.	298;298;298;298	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	Y	298	ENSP00000376570:D298Y;ENSP00000387239:D298Y	ENSP00000376570:D298Y	D	+	1	0	GALNT13	154823814	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.772000	0.95346	0.650000	0.86243	GAC		0.343	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		T	155115568	G	T	155115568	3	4	317	1	0	0	0	0	1	0	0	0	6213	1290	45	4	914	4	GALNT13	2	155115568	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10	70462865	155115568	88083805	9	18800											
CD28	940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	204591400	204591400	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr2:204591400G>A	ENST00000324106.8	+	2	246	c.97G>A	c.(97-99)Gac>Aac	p.D33N	CD28_ENST00000374478.4_Intron|CD28_ENST00000458610.2_Missense_Mutation_p.D47N|CD28_ENST00000374481.3_Missense_Mutation_p.D33N	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	33	Ig-like V-type.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)	p.D33N(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TGTAGCGTACGACAATGCGGT	0.433																																																2	Substitution - Missense(2)	kidney(1)|endometrium(1)											103	96	98					2																	204591400		2203	4300	6503	SO:0001583	missense	940			J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1653	protein-coding gene	gene with protein product	"T-cell-specific surface glycoprotein"	186760	"CD28 antigen (Tp44)"			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.97G>A	2.37:g.204591400G>A	ENSP00000324890:p.Asp33Asn		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.896542	0.00522	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106	T;T;T	0.79352	-1.26;-0.21;-0.21	5.62	-2.53	0.06326	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.551144	0.19608	N	0.110215	T	0.42359	0.1199	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44772	-0.9306	10	0.02654	T	1	-16.2168	6.4438	0.21865	0.4967:0.1316:0.3718:0.0	.	33	P10747	CD28_HUMAN	N	33;47;33	ENSP00000363605:D33N;ENSP00000393648:D47N;ENSP00000324890:D33N	ENSP00000324890:D33N	D	+	1	0	CD28	204299645	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.040000	0.12104	-0.732000	0.04856	-1.080000	0.02220	GAC		0.433	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		A	204591400	G	A	204591400	3	1	317	1	0	0	0	0	1	0	0	0	2995	1058	37	1	103	1	CD28	2	204591400	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10	49475832	204591400	38607973	10	18801											
KIAA1486	57624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	226378271	226378271	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr2:226378271C>T	ENST00000272907.6	+	3	819	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	136					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R136W(1)									CTGTGGCTCACGGAGACAACC	0.577																																																1	Substitution - Missense(1)	kidney(1)											60	74	69					2																	226378271		2100	4235	6335	SO:0001583	missense	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.406C>T	2.37:g.226378271C>T	ENSP00000272907:p.Arg136Trp		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184690	0.57909	.	.	ENSG00000144460	ENST00000272907	T	0.52057	0.68	5.42	2.49	0.30216	.	0.000000	0.64402	D	0.000003	T	0.68210	0.2976	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71481	-0.4580	10	0.72032	D	0.01	-15.3207	14.8854	0.70564	0.4886:0.5114:0.0:0.0	.	136	Q9P242	K1486_HUMAN	W	136	ENSP00000272907:R136W	ENSP00000272907:R136W	R	+	1	2	KIAA1486	226086515	1.000000	0.71417	0.831000	0.32960	0.751000	0.42716	2.299000	0.43611	0.201000	0.20466	-0.309000	0.09137	CGG		0.577	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		T	226378271	C	T	226378271	3	4	317	1	0	0	0	0	1	0	0	0	8239	527	19	1	412	1	KIAA1486	2	226378271	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10	21786871	226378271	16821102	11	18802											
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10191532	10191532	+	Nonsense_Mutation	SNP	C	C	A	rs5030835		TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr3:10191532C>A	ENST00000256474.2	+	3	1365	c.525C>A	c.(523-525)taC>taA	p.Y175*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.Y134*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	175			Y -> D (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Y175*(5)|p.P172fs*39(2)|p.Y175fs*1(1)|p.Y175_L178>*(1)|p.R176fs*36(1)|p.E173fs*26(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGAGAATTACAGGAGACTGG	0.527		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Substitution - Nonsense(5)|Deletion - Frameshift(5)|Complex - deletion inframe(1)	kidney(11)	GRCh37	CD071418|CM024001|CM961437	VHL	D|M	rs5030835						92	83	86					3																	10191532		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.525C>A	3.37:g.10191532C>A	ENSP00000256474:p.Tyr175*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040474	0.75732	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.97	1.89	0.25635	.	0.137522	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6215	9.5045	0.39037	0.0:0.7609:0.0:0.2391	.	.	.	.	X	175;134;93	.	ENSP00000256474:Y175X	Y	+	3	2	VHL	10166532	0.856000	0.29760	0.916000	0.36221	0.974000	0.67602	0.518000	0.22847	0.270000	0.21984	0.655000	0.94253	TAC		0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10191532	C	A	10191532	4	1	317	1	0	0	0	0	0	1	0	0	17167	489	17	4	535	4	VHL	3	10191532	Nonsense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10		10191532	187830898	12	18803											
LTF	4057	broad.mit.edu	37	3	46477692	46477692	+	Silent	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr3:46477692C>T	ENST00000231751.4	-	17	2422	c.2127G>A	c.(2125-2127)agG>agA	p.R709R	LTF_ENST00000493056.1_5'Flank|LTF_ENST00000426532.2_Silent_p.R665R|LTF_ENST00000417439.1_Silent_p.R707R	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	709					antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.R709R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GGTTTTACTTCCTGAGGAATT	0.502																																																1	Substitution - coding silent(1)	kidney(1)											114	113	113					3																	46477692		2203	4296	6499	SO:0001819	synonymous_variant	4057				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.2127G>A	3.37:g.46477692C>T			A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Silent	SNP	ENST00000231751.4	37	CCDS33747.1																																																																																				0.502	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		T	46477692	C	T	46477692	2	4	317	1	0	0	0	0	0	0	0	1	9081	854	30	2		2	LTF	3	46477692	Silent	SNP	C	TCGA-BP-4164-01A-02D-1386-10	36286160	46477692	151544738	13	18804											
DOCK3	1795	broad.mit.edu;hgsc.bcm.edu	37	3	51246204	51246204	+	Splice_Site	SNP	G	G	C			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr3:51246204G>C	ENST00000266037.9	+	13	1060		c.e13-1			NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.?(2)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCTGTTACAGGTGCAACAAC	0.468																																																2	Unknown(2)	kidney(2)											83	87	85					3																	51246204		2030	4190	6220	SO:0001630	splice_region_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1038-1G>C	3.37:g.51246204G>C			O15017	Splice_Site	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627164	0.87560	.	.	ENSG00000088538	ENST00000266037	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0394	0.92992	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK3	51221244	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.125000	0.94402	2.878000	0.98634	0.650000	0.86243	.		0.468	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	Intron	C	51246204	G	C	51246204	5	2	317	1	0	0	0	0	0	0	1	0	4690	1014	35	4	1087	4	DOCK3	3	51246204	Splice_Site	SNP	G	TCGA-BP-4164-01A-02D-1386-10	4768512	51246204	146776226	14	18805											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52584626	52584626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr3:52584626G>A	ENST00000296302.7	-	29	4709	c.4708C>T	c.(4708-4710)Cag>Tag	p.Q1570*	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q1483*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q1463*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q1515*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q1533*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q1490*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q1463*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q1478*|RNU6-856P_ENST00000516959.1_RNA			Q86U86	PB1_HUMAN	polybromo 1	1570	Pro-rich.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q1570*(1)|p.Q1463*(1)|p.Q1483*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGTGGTGCCTGCTGCCCTGGA	0.557			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											76	79	78					3																	52584626		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4708C>T	3.37:g.52584626G>A	ENSP00000296302:p.Gln1570*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	44	10.635663	0.99441	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767	.	.	.	5.93	5.93	0.95920	.	0.060663	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-9.7937	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	X	1483;1463;1570;1463;1515;1490;1533;1478	.	ENSP00000296302:Q1570X	Q	-	1	0	PBRM1	52559666	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.912000	0.87465	2.826000	0.97356	0.655000	0.94253	CAG		0.557	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52584626	G	A	52584626	4	1	317	1	0	0	0	0	0	1	0	0	11493	1328	46	2	369	2	PBRM1	3	52584626	Nonsense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10	1338422	52584626	145437804	15	18806											
ENAM	10117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71495256	71495256	+	Silent	SNP	T	T	G			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr4:71495256T>G	ENST00000396073.3	+	2	320	c.39T>G	c.(37-39)ccT>ccG	p.P13P		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	13					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.P13P(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCTCTTTTCCTAAACTAGATA	0.353																																																1	Substitution - coding silent(1)	kidney(1)											162	175	170					4																	71495256		2203	4296	6499	SO:0001819	synonymous_variant	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.39T>G	4.37:g.71495256T>G			Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	CCDS3544.2																																																																																				0.353	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		G	71495256	T	G	71495256	2	3	317	1	0	0	0	0	0	0	0	1	5114	1509	53	5		5	ENAM	4	71495256	Silent	SNP	T	TCGA-BP-4164-01A-02D-1386-10		71495256	119659020	16	18807											
EXOSC9	5393	broad.mit.edu;hgsc.bcm.edu	37	4	122728760	122728760	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr4:122728760T>A	ENST00000243498.5	+	6	696	c.588T>A	c.(586-588)ttT>ttA	p.F196L	EXOSC9_ENST00000512454.1_Missense_Mutation_p.F180L|EXOSC9_ENST00000379663.3_Missense_Mutation_p.F196L|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	196	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F196L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GTGTCAGTTTTGCCTTTTTCC	0.363																																																1	Substitution - Missense(1)	kidney(1)											212	187	196					4																	122728760		2203	4300	6503	SO:0001583	missense	5393			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.588T>A	4.37:g.122728760T>A	ENSP00000243498:p.Phe196Leu		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	CCDS3722.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.7|27.7	4.854682|4.854682	0.91355|0.91355	.|.	.|.	ENSG00000123737|ENSG00000123737	ENST00000511132|ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454	.|T;T;T;T	.|0.42513	.|0.97;0.97;0.97;0.97	6.16|6.16	2.48|2.48	0.30137|0.30137	.|Exoribonuclease, phosphorolytic domain 2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60353|0.60353	0.2262|0.2262	M|M	0.81341|0.81341	2.54|2.54	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;P	.|0.69078	.|0.997;0.974;0.78	.|D;P;P	.|0.64776	.|0.929;0.688;0.522	T|T	0.60782|0.60782	-0.7195|-0.7195	5|10	.|0.72032	.|D	.|0.01	-17.8904|-17.8904	9.7431|9.7431	0.40431|0.40431	0.0:0.1924:0.0:0.8076|0.0:0.1924:0.0:0.8076	.|.	.|180;196;196	.|D6RIY6;Q06265;Q06265-2	.|.;EXOS9_HUMAN;.	S|L	32|196;196;150;180	.|ENSP00000243498:F196L;ENSP00000368984:F196L;ENSP00000422205:F150L;ENSP00000425782:F180L	.|ENSP00000243498:F196L	C|F	+|+	1|3	0|2	EXOSC9|EXOSC9	122948210|122948210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.647000|1.647000	0.37260|0.37260	0.214000|0.214000	0.20742|0.20742	0.528000|0.528000	0.53228|0.53228	TGC|TTT		0.363	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		A	122728760	T	A	122728760	3	1	317	1	0	0	0	0	1	0	0	0	5323	1809	63	5	610	5	EXOSC9	4	122728760	Missense_Mutation	SNP	T	TCGA-BP-4164-01A-02D-1386-10	51233504	122728760	68425516	17	18808											
HLA-C	3107	hgsc.bcm.edu	37	6	31238179	31238179	+	Missense_Mutation	SNP	C	C	T	rs41562012	byFrequency	TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr6:31238179C>T	ENST00000376228.5	-	4	717	c.703G>A	c.(703-705)Gcg>Acg	p.A235T	HLA-C_ENST00000383329.3_Missense_Mutation_p.A235T	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	235	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTGATCTCCGCAGGGTAGAAG	0.627													c|||	83	0.0165735	0.0136	0.0202	5008	,	,		16224	0.001		0.0437	False		,,,				2504	0.0061															0								C	THR/ALA	53,4353		0,53,2150	41	42	42		703	1.8	0.3	6	dbSNP_127	42	340,8250		5,330,3960	no	missense	HLA-C	NM_002117.5	58	5,383,6110	TT,TC,CC		3.9581,1.2029,3.024	possibly-damaging	235/367	31238179	393,12603	2203	4295	6498	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.703G>A	6.37:g.31238179C>T	ENSP00000365402:p.Ala235Thr		O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	41	0.018772893772893772	7	0.014227642276422764	5	0.013812154696132596	1	0.0017482517482517483	28	0.036939313984168866	.	4.284	0.051806	0.08291	0.012029	0.039581	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.14766	2.48;2.48	2.67	1.79	0.24919	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.402896	0.17690	U	0.165292	T	0.14830	0.0358	H	0.97758	4.07	0.09310	N	1	B;B;B;B	0.19200	0.034;0.001;0.004;0.009	B;B;B;B	0.28232	0.087;0.013;0.022;0.017	T	0.23726	-1.0180	10	0.87932	D	0	.	5.5522	0.17097	0.0:0.84:0.0:0.16	rs41562012	235;235;235;235	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	T	235;235;235;272	ENSP00000365402:A235T;ENSP00000372819:A235T	ENSP00000365402:A235T	A	-	1	0	HLA-C	31346158	0.000000	0.05858	0.342000	0.25602	0.447000	0.32167	-1.515000	0.02252	0.702000	0.31825	0.298000	0.19748	GCG		0.627	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31238179	C	T	31238179	3	4	317	1	0	0	0	0	1	0	0	0	7199	710	25	2	417	2	HLA-C	6	31238179	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10		31238179	139876888	18	18809											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56401585	56401585	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr6:56401585T>C	ENST00000361203.3	-	58	16136	c.16129A>G	c.(16129-16131)Aat>Gat	p.N5377D	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.N3291D|DST_ENST00000370788.2_Missense_Mutation_p.N3291D|DST_ENST00000340834.4_5'UTR|DST_ENST00000370754.5_Missense_Mutation_p.N5557D|DST_ENST00000244364.6_Missense_Mutation_p.N2965D|DST_ENST00000446842.2_Missense_Mutation_p.N5053D|DST_ENST00000370769.4_Missense_Mutation_p.N5379D			Q03001	DYST_HUMAN	dystonin	5377					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.N5379D(1)|p.N2965D(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTTCTTATTGAGAGTCTTC	0.433																																																2	Substitution - Missense(2)	kidney(2)											136	136	136					6																	56401585		2017	4193	6210	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16129A>G	6.37:g.56401585T>C	ENSP00000354508:p.Asn5377Asp		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	18.73	3.686497	0.68157	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.7	5.7	0.88788	.	0.000000	0.53938	D	0.000045	T	0.58779	0.2146	M	0.80847	2.515	0.25074	N	0.990979	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.998;0.971	T	0.60637	-0.7224	9	0.12103	T	0.63	.	15.9589	0.79910	0.0:0.0:0.0:1.0	.	3291;5379;5557;5377;2965	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	D	2965;5557;5379;3291;5053;3291;5377	ENSP00000244364:N2965D;ENSP00000359790:N5557D;ENSP00000359805:N5379D;ENSP00000400883:N3291D;ENSP00000393645:N5053D;ENSP00000359824:N3291D;ENSP00000354508:N5377D	ENSP00000244364:N2965D	N	-	1	0	DST	56509544	1.000000	0.71417	0.936000	0.37596	0.703000	0.40648	7.883000	0.87264	2.178000	0.69098	0.477000	0.44152	AAT		0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		C	56401585	T	C	56401585	3	2	317	1	0	0	0	0	1	0	0	0	4785	1812	63	3	6790	3	DST	6	56401585	Missense_Mutation	SNP	T	TCGA-BP-4164-01A-02D-1386-10	25163406	56401585	114713482	19	18810											
AUTS2	26053	broad.mit.edu	37	7	70255256	70255256	+	Silent	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr7:70255256C>T	ENST00000342771.4	+	19	3375	c.3054C>T	c.(3052-3054)ccC>ccT	p.P1018P	AUTS2_ENST00000406775.2_Silent_p.P994P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1018								p.P1018P(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCGGGGCCCCTGGCCTCGA	0.677																																																1	Substitution - coding silent(1)	kidney(1)											22	25	24					7																	70255256		2183	4247	6430	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3054C>T	7.37:g.70255256C>T			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1																																																																																				0.677	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			T	70255256	C	T	70255256	2	4	317	1	0	0	0	0	0	0	0	1	1225	610	22	2		2	AUTS2	7	70255256	Silent	SNP	C	TCGA-BP-4164-01A-02D-1386-10		70255256	88883407	20	18811											
CACNA2D1	781	broad.mit.edu	37	7	81598283	81598283	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr7:81598283C>T	ENST00000356253.5	-	29	2606	c.2351G>A	c.(2350-2352)gGa>gAa	p.G784E	CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G772E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	784					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G772E(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGCACCAGGTCCACTTTCtaa	0.284																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)											73	78	76					7																	81598283		2203	4295	6498	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2351G>A	7.37:g.81598283C>T	ENSP00000348589:p.Gly784Glu		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	C	13.48	2.249383	0.39797	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.68903	-0.36;-0.36	5.07	5.07	0.68467	.	0.333148	0.34580	N	0.003860	T	0.53802	0.1819	L	0.31065	0.9	0.80722	D	1	B	0.31383	0.321	B	0.31946	0.138	T	0.50233	-0.8852	10	0.12430	T	0.62	-18.191	15.9532	0.79859	0.0:1.0:0.0:0.0	.	772	P54289-2	.	E	772;791;784	ENSP00000349320:G772E;ENSP00000348589:G784E	ENSP00000284088:G791E	G	-	2	0	CACNA2D1	81436219	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.662000	0.54510	2.518000	0.84900	0.484000	0.47621	GGA		0.284	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				T	81598283	C	T	81598283	3	4	317	1	0	0	0	0	1	0	0	0	2550	855	30	2	1004	2	CACNA2D1	7	81598283	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10	11343027	81598283	77540380	21	18812											
COG5	10466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	106888896	106888896	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr7:106888896C>T	ENST00000347053.3	-	16	1878	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	COG5_ENST00000393603.2_Missense_Mutation_p.V631M|COG5_ENST00000297135.3_Missense_Mutation_p.V631M	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	610					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.V631M(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GCATCTCCCACAGAAGTGAGT	0.333																																																1	Substitution - Missense(1)	kidney(1)											127	122	124					7																	106888896		2203	4300	6503	SO:0001583	missense	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1828G>A	7.37:g.106888896C>T	ENSP00000334703:p.Val610Met		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429695	0.62844	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.59502	0.26;0.26;0.26	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	L	0.43152	1.355	0.80722	D	1	P;P	0.48764	0.915;0.82	P;B	0.46510	0.519;0.446	T	0.57306	-0.7834	10	0.41790	T	0.15	-13.3454	19.7325	0.96188	0.0:1.0:0.0:0.0	.	610;631	Q9UP83;Q9UP83-2	COG5_HUMAN;.	M	610;631;631	ENSP00000334703:V610M;ENSP00000297135:V631M;ENSP00000377228:V631M	ENSP00000297135:V631M	V	-	1	0	COG5	106676132	1.000000	0.71417	0.964000	0.40570	0.958000	0.62258	6.637000	0.74304	2.763000	0.94921	0.563000	0.77884	GTG		0.333	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			T	106888896	C	T	106888896	3	4	317	1	0	0	0	0	1	0	0	0	3663	478	17	2	719	2	COG5	7	106888896	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10	25290613	106888896	52249767	22	18813											
MLL3	58508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151860719	151860719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr7:151860719G>A	ENST00000262189.6	-	43	10161	c.9943C>T	c.(9943-9945)Cag>Tag	p.Q3315*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q3315*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3315	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q3315*(2)									GTTGTGTGCTGCTGGTGCTGA	0.582																																																2	Substitution - Nonsense(2)	kidney(2)											142	120	128					7																	151860719		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9943C>T	7.37:g.151860719G>A	ENSP00000262189:p.Gln3315*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	53|53	20.299640|20.299640	0.99929|0.99929	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|.	.|.	.|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.42548	.|D	.|0.000693	T|.	0.65026|.	0.2652|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59402|.	-0.7461|.	4|.	.|0.19147	.|T	.|0.46	.|.	16.5202|16.5202	0.84312|0.84312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	820|3315	.|.	.|ENSP00000262189:Q3315X	A|Q	-|-	2|1	0|0	MLL3|MLL3	151491652|151491652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	6.709000|6.709000	0.74665|0.74665	2.322000|2.322000	0.78497|0.78497	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.582	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151860719	G	A	151860719	4	1	317	1	0	0	0	0	0	1	0	0	9624	1328	46	2	4860	2	MLL3	7	151860719	Nonsense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10	44971823	151860719	7277944	23	18814											
PKHD1L1	93035	broad.mit.edu;ucsc.edu	37	8	110432841	110432841	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr8:110432841G>A	ENST00000378402.5	+	23	2723	c.2619G>A	c.(2617-2619)atG>atA	p.M873I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	873					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.M875I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCCAACTATGACAAACCAAT	0.383										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	kidney(1)											140	130	133					8																	110432841		1850	4091	5941	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2619G>A	8.37:g.110432841G>A	ENSP00000367655:p.Met873Ile		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	0.153	-1.089018	0.01873	.	.	ENSG00000205038	ENST00000378402	D	0.84800	-1.9	5.54	-0.598	0.11649	.	0.812063	0.11345	N	0.573629	T	0.67748	0.2926	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49418	-0.8942	10	0.18710	T	0.47	.	1.2804	0.02040	0.3113:0.1421:0.4011:0.1456	.	873	Q86WI1	PKHL1_HUMAN	I	873	ENSP00000367655:M873I	ENSP00000367655:M873I	M	+	3	0	PKHD1L1	110502017	0.000000	0.05858	0.018000	0.16275	0.393000	0.30537	0.103000	0.15292	0.032000	0.15435	0.585000	0.79938	ATG		0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110432841	G	A	110432841	3	1	317	1	0	0	0	0	1	0	0	0	11974	1290	45	2	2709	2	PKHD1L1	8	110432841	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10		110432841	35931181	24	18815											
SNTB1	6641	broad.mit.edu;hgsc.bcm.edu	37	8	121823811	121823811	+	Silent	SNP	G	G	C			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr8:121823811G>C	ENST00000395601.3	-	2	687	c.273C>G	c.(271-273)gtC>gtG	p.V91V	SNTB1_ENST00000519177.1_5'Flank|SNTB1_ENST00000517992.1_Silent_p.V91V|RP11-713M15.2_ENST00000605955.1_RNA	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	91	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.V91V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGCGGTGCGGAccccggcgg	0.741																																																1	Substitution - coding silent(1)	kidney(1)											11	10	10					8																	121823811		2175	4256	6431	SO:0001819	synonymous_variant	6641			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.273C>G	8.37:g.121823811G>C			A8K9E0|O14912|Q4KMG8	Silent	SNP	ENST00000395601.3	37	CCDS6334.1																																																																																				0.741	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		C	121823811	G	C	121823811	2	2	317	1	0	0	0	0	0	0	0	1	14878	1161	41	4		4	SNTB1	8	121823811	Silent	SNP	G	TCGA-BP-4164-01A-02D-1386-10	11390970	121823811	24540211	25	18816											
CACNA1B	774	broad.mit.edu	37	9	140918171	140918185	+	In_Frame_Del	DEL	GGAGAAGGAGACCAC	GGAGAAGGAGACCAC	-	rs145816559|rs11137342|rs370787788|rs551405755	byFrequency	TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	GGAGAAGGAGACCAC	GGAGAAGGAGACCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr9:140918171_140918185delGGAGAAGGAGACCAC	ENST00000371372.1	+	19	3121_3135	c.2976_2990delGGAGAAGGAGACCAC	c.(2974-2991)gtggagaaggagaccacg>gtg	p.EKETT993del	CACNA1B_ENST00000371367.5_5'UTR|CACNA1B_ENST00000545473.1_5'Flank|CACNA1B_ENST00000371363.1_In_Frame_Del_p.EKETT993del|CACNA1B_ENST00000371355.4_In_Frame_Del_p.EKETT994del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.EKETT993del|CACNA1B_ENST00000371357.1_In_Frame_Del_p.EKETT994del|CACNA1B_ENST00000277549.5_In_Frame_Del_p.EKETT185del	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	993					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.T996_E1000delTTEKE(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACGAGGCTGTGGAGAAGGAGACCACGGAGAAGGAG	0.735														1990	0.397364	0.6225	0.1282	5008	,	,		9031	0.6349		0.1521	False		,,,				2504	0.2914															1	Deletion - In frame(1)	breast(1)								1091,1197		364,363,417						-1.3	0		dbSNP_134	8	691,4399		126,439,1980	no	coding	CACNA1B	NM_000718.3		490,802,2397	A1A1,A1R,RR		13.5756,47.6836,24.1529				1782,5596				SO:0001651	inframe_deletion	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2976_2990delGGAGAAGGAGACCAC	9.37:g.140918171_140918185delGGAGAAGGAGACCAC	ENSP00000360423:p.Glu993_Thr997del		B1AQK5	In_Frame_Del	DEL	ENST00000371372.1	37	CCDS59522.1																																																																																				0.735	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		-	140918185	GGAGAAGGAGACCAC	-	140918171	7	5	317	1	0	1	0	1	0	0	0	0	2541	1335	47	0	3050	0	CACNA1B	9	140918171	In_Frame_Del	DEL	GGAGAAGGAGACCAC	TCGA-BP-4164-01A-02D-1386-10		140918171	295260	26	18817											
MMP21	118856	broad.mit.edu;hgsc.bcm.edu	37	10	127461203	127461203	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr10:127461203C>T	ENST00000368808.3	-	3	813	c.814G>A	c.(814-816)Gac>Aac	p.D272N		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	272					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D272N(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	ATGCCCGTGTCACTGGTGGGA	0.572																																																1	Substitution - Missense(1)	kidney(1)											164	141	149					10																	127461203		2203	4300	6503	SO:0001583	missense	118856			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.814G>A	10.37:g.127461203C>T	ENSP00000357798:p.Asp272Asn		Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332655	0.60853	.	.	ENSG00000154485	ENST00000368808	T	0.21543	2.0	4.51	3.6	0.41247	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.378221	0.28583	N	0.014826	T	0.15998	0.0385	L	0.31926	0.97	0.36382	D	0.861964	B	0.30068	0.267	B	0.31495	0.131	T	0.15407	-1.0438	10	0.20046	T	0.44	-22.293	12.2147	0.54400	0.0:0.8268:0.1732:0.0	.	272	Q8N119	MMP21_HUMAN	N	272	ENSP00000357798:D272N	ENSP00000357798:D272N	D	-	1	0	MMP21	127451193	0.990000	0.36364	0.392000	0.26245	0.969000	0.65631	4.493000	0.60341	1.105000	0.41606	0.561000	0.74099	GAC		0.572	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			T	127461203	C	T	127461203	3	4	317	1	0	0	0	0	1	0	0	0	9662	826	29	2	915	2	MMP21	10	127461203	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10		127461203	8073544	27	18818											
OR52I2	143502	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4608985	4608985	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr11:4608985C>T	ENST00000312614.4	+	1	965	c.943C>T	c.(943-945)Cca>Tca	p.P315S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P315S(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTGATCATCCCAGCCACCTT	0.512																																																1	Substitution - Missense(1)	kidney(1)											204	191	195					11																	4608985		2201	4298	6499	SO:0001583	missense	143502			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.943C>T	11.37:g.4608985C>T	ENSP00000308764:p.Pro315Ser		B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823553	0.50739	.	.	ENSG00000226288	ENST00000312614	T	0.35048	1.33	4.18	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000459	T	0.57431	0.2053	M	0.81682	2.555	0.36355	D	0.860345	D	0.76494	0.999	D	0.69479	0.964	T	0.68172	-0.5479	10	0.87932	D	0	-5.5036	10.1938	0.43043	0.3609:0.6391:0.0:0.0	.	315	Q8NH67	O52I2_HUMAN	S	315	ENSP00000308764:P315S	ENSP00000308764:P315S	P	+	1	0	OR52I2	4565561	0.722000	0.28017	0.982000	0.44146	0.864000	0.49448	2.871000	0.48459	0.947000	0.37659	0.644000	0.83932	CCA		0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		T	4608985	C	T	4608985	3	4	317	1	0	0	0	0	1	0	0	0	11123	623	22	2	945	2	OR52I2	11	4608985	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10		4608985	130397531	28	18819											
RBM14	10432	hgsc.bcm.edu	37	11	66392880	66392880	+	Silent	SNP	C	C	T	rs11550057	byFrequency	TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr11:66392880C>T	ENST00000310137.4	+	2	1672	c.1533C>T	c.(1531-1533)acC>acT	p.T511T	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	511	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTTCTGCCACCCTGGCAGCTC	0.647													C|||	399	0.0796725	0.0136	0.0793	5008	,	,		15624	0.0208		0.1531	False		,,,				2504	0.1544															0								C	,,,,	155,4245	106.5+/-144.9	3,149,2048	50	46	47		,,,,1533	4.8	1	11	dbSNP_120	47	1377,7213	265.2+/-286.0	118,1141,3036	no	intron,intron,intron,intron,coding-synonymous	RBM14,RBM14-RBM4	NM_001198836.1,NM_001198837.1,NM_001198845.1,NM_001198846.1,NM_006328.3	,,,,	121,1290,5084	TT,TC,CC		16.0303,3.5227,11.7937	,,,,	,,,,511/670	66392880	1532,11458	2200	4295	6495	SO:0001819	synonymous_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1533C>T	11.37:g.66392880C>T			B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	ENST00000310137.4	37	CCDS8147.1																																																																																				0.647	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		T	66392880	C	T	66392880	2	4	317	1	0	0	0	0	0	0	0	1	13121	610	22	2		2	RBM14	11	66392880	Silent	SNP	C	TCGA-BP-4164-01A-02D-1386-10	61783895	66392880	68613636	29	18820											
DDI1	414301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103908556	103908556	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr11:103908556C>T	ENST00000302259.3	+	1	1249	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	336							aspartic-type endopeptidase activity (GO:0004190)	p.R336W(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGATATGCTCCGGAGACATCA	0.443																																																2	Substitution - Missense(2)	kidney(2)											131	124	126					11																	103908556		2202	4299	6501	SO:0001583	missense	414301				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1006C>T	11.37:g.103908556C>T	ENSP00000302805:p.Arg336Trp		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451721	0.43531	.	.	ENSG00000170967	ENST00000302259	T	0.51817	0.69	5.21	2.88	0.33553	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.101165	0.64402	D	0.000003	T	0.61986	0.2391	M	0.68317	2.08	0.43603	D	0.995963	D	0.76494	0.999	D	0.65573	0.936	T	0.63287	-0.6671	10	0.87932	D	0	-22.0794	10.8597	0.46819	0.6824:0.3176:0.0:0.0	.	336	Q8WTU0	DDI1_HUMAN	W	336	ENSP00000302805:R336W	ENSP00000302805:R336W	R	+	1	2	DDI1	103413766	1.000000	0.71417	0.989000	0.46669	0.138000	0.21146	4.376000	0.59556	0.522000	0.28464	-0.262000	0.10625	CGG		0.443	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		T	103908556	C	T	103908556	3	4	317	1	0	0	0	0	1	0	0	0	4330	643	23	1	1008	1	DDI1	11	103908556	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10	37515676	103908556	31097960	30	18821											
OR4D5	219875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123810587	123810587	+	Silent	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr11:123810587C>T	ENST00000307033.2	+	1	338	c.264C>T	c.(262-264)ggC>ggT	p.G88G		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G88G(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGCTCTCAGGCAACCCTACCA	0.473																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											158	130	140					11																	123810587		2202	4299	6501	SO:0001819	synonymous_variant	219875			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.264C>T	11.37:g.123810587C>T			B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	CCDS31699.1																																																																																				0.473	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		T	123810587	C	T	123810587	2	4	317	1	0	0	0	0	0	0	0	1	11059	697	25	2		2	OR4D5	11	123810587	Silent	SNP	C	TCGA-BP-4164-01A-02D-1386-10	19902031	123810587	11195929	31	18822											
FAM19A2	338811	broad.mit.edu;ucsc.edu	37	12	62148719	62148719	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr12:62148719C>A	ENST00000416284.3	-	3	1777	c.193G>T	c.(193-195)Gtc>Ttc	p.V65F	FAM19A2_ENST00000551619.1_Missense_Mutation_p.V65F|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	65						cytoplasm (GO:0005737)		p.V65F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GAGCACTTGACTGTTTGTGAC	0.493																																																1	Substitution - Missense(1)	kidney(1)											208	141	164					12																	62148719		2203	4300	6503	SO:0001583	missense	338811			AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.193G>T	12.37:g.62148719C>A	ENSP00000393987:p.Val65Phe		B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022680	0.93462	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.83385	0.5243	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83650	0.0155	8	.	.	.	.	19.5344	0.95244	0.0:1.0:0.0:0.0	.	65	Q8N3H0	F19A2_HUMAN	F	65;65;66;72;66	.	.	V	-	1	0	FAM19A2	60434986	1.000000	0.71417	0.963000	0.40424	0.971000	0.66376	6.004000	0.70709	2.628000	0.89032	0.558000	0.71614	GTC		0.493	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		A	62148719	C	A	62148719	3	1	317	1	0	0	0	0	1	0	0	0	5534	565	20	4	214	4	FAM19A2	12	62148719	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10		62148719	71703176	32	18823											
POSTN	10631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	38162097	38162097	+	Silent	SNP	G	G	A	rs368300503		TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr13:38162097G>A	ENST00000379747.4	-	5	585	c.468C>T	c.(466-468)aaC>aaT	p.N156N	POSTN_ENST00000379742.4_Silent_p.N156N|POSTN_ENST00000541481.1_Silent_p.N156N|POSTN_ENST00000379743.4_Silent_p.N156N|POSTN_ENST00000541179.1_Silent_p.N156N|POSTN_ENST00000379749.4_Silent_p.N156N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	156	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.N156N(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CAACATTCACGTTGCTCTCCA	0.323																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)						G	,,,	1,4405	2.1+/-5.4	0,1,2202	103	100	101		468,468,468,468	0.4	1	13		101	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	POSTN	NM_001135934.1,NM_001135935.1,NM_001135936.1,NM_006475.2	,,,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,,,	156/780,156/782,156/752,156/837	38162097	1,12995	2203	4295	6498	SO:0001819	synonymous_variant	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.468C>T	13.37:g.38162097G>A			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	CCDS9364.1																																																																																				0.323	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		A	38162097	G	A	38162097	2	1	317	1	0	0	0	0	0	0	0	1	12261	1136	40	1		1	POSTN	13	38162097	Silent	SNP	G	TCGA-BP-4164-01A-02D-1386-10		38162097	77007781	33	18824											
EFS	10278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23826852	23826852	+	Silent	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr14:23826852C>T	ENST00000216733.3	-	6	1876	c.1269G>A	c.(1267-1269)ggG>ggA	p.G423G	EFS_ENST00000351354.3_Silent_p.G330G|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Silent_p.G254G	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	423					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.G423G(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCAGTGGCTCCCCTGGGGACA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											26	31	29					14																	23826852		2202	4299	6501	SO:0001819	synonymous_variant	10278			AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1269G>A	14.37:g.23826852C>T			B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	CCDS9595.1																																																																																				0.577	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			T	23826852	C	T	23826852	2	4	317	1	0	0	0	0	0	0	0	1	4961	610	22	2		2	EFS	14	23826852	Silent	SNP	C	TCGA-BP-4164-01A-02D-1386-10		23826852	83522688	34	18825											
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24884470	24884470	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr14:24884470C>T	ENST00000382554.3	+	9	3833	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1172					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.T1172M(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTGGCCCTGACGGCCATCCTC	0.657																																																1	Substitution - Missense(1)	kidney(1)											58	66	64					14																	24884470		2084	4197	6281	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3515C>T	14.37:g.24884470C>T	ENSP00000371994:p.Thr1172Met		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890363	0.52014	.	.	ENSG00000205978	ENST00000382554	T	0.45276	0.9	4.61	4.61	0.57282	.	.	.	.	.	T	0.47544	0.1451	N	0.19112	0.55	0.29198	N	0.875415	D	0.89917	1.0	D	0.66497	0.944	T	0.43605	-0.9381	9	0.72032	D	0.01	.	12.8162	0.57667	0.0:1.0:0.0:0.0	.	1172	Q9P2P1	NYNRI_HUMAN	M	1172	ENSP00000371994:T1172M	ENSP00000371994:T1172M	T	+	2	0	NYNRIN	23954310	0.518000	0.26234	0.997000	0.53966	0.945000	0.59286	0.655000	0.24933	2.379000	0.81126	0.561000	0.74099	ACG		0.657	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			T	24884470	C	T	24884470	3	4	317	1	0	0	0	0	1	0	0	0	10798	536	19	1	3545	1	NYNRIN	14	24884470	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10	1057618	24884470	82465070	35	18826											
DIO2	1734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	80669284	80669284	+	Silent	SNP	A	A	G			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr14:80669284A>G	ENST00000557010.1	-	4	955	c.570T>C	c.(568-570)gaT>gaC	p.D190D	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Silent_p.D190D|DIO2_ENST00000555750.1_Silent_p.D226D|DIO2_ENST00000557125.1_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	190					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.D190D(1)|p.D226D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTGCACATCGATCTTCCTGGT	0.552											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - coding silent(2)	kidney(2)											62	66	65					14																	80669284		2050	4196	6246	SO:0001819	synonymous_variant	1734			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.570T>C	14.37:g.80669284A>G		1200	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Silent	SNP	ENST00000557010.1	37	CCDS45146.1																																																																																				0.552	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			G	80669284	A	G	80669284	2	3	317	1	0	0	0	0	0	0	0	1	4527	330	12	3		3	DIO2	14	80669284	Silent	SNP	A	TCGA-BP-4164-01A-02D-1386-10	55784814	80669284	26680256	36	18827											
SPTBN5	51332	broad.mit.edu;hgsc.bcm.edu	37	15	42150817	42150817	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr15:42150817G>C	ENST00000320955.6	-	49	8436	c.8209C>G	c.(8209-8211)Cag>Gag	p.Q2737E		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2737					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.Q2737E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCTCCTGCTGTTGGTGCATG	0.627																																																1	Substitution - Missense(1)	kidney(1)											23	25	24					15																	42150817		2164	4270	6434	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8209C>G	15.37:g.42150817G>C	ENSP00000317790:p.Gln2737Glu			Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	10.24	1.294564	0.23564	.	.	ENSG00000137877	ENST00000320955	T	0.50001	0.76	4.27	3.35	0.38373	.	0.722220	0.11747	N	0.533424	T	0.45276	0.1334	L	0.57536	1.79	0.09310	N	1	P	0.38280	0.625	B	0.34931	0.192	T	0.34825	-0.9813	10	0.59425	D	0.04	.	13.2627	0.60115	0.0:0.182:0.818:0.0	.	2737	Q9NRC6	SPTN5_HUMAN	E	2737	ENSP00000317790:Q2737E	ENSP00000317790:Q2737E	Q	-	1	0	SPTBN5	39938109	0.001000	0.12720	0.001000	0.08648	0.172000	0.22775	0.595000	0.24029	0.985000	0.38656	0.467000	0.42956	CAG		0.627	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		C	42150817	G	C	42150817	3	2	317	1	0	0	0	0	1	0	0	0	15127	1386	48	4	2895	4	SPTBN5	15	42150817	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10		42150817	60380575	37	18828											
USP7	7874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	9012898	9012898	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr16:9012898T>G	ENST00000344836.4	-	6	908	c.710A>C	c.(709-711)cAg>cCg	p.Q237P	USP7_ENST00000535863.1_Missense_Mutation_p.Q138P|USP7_ENST00000381886.4_Missense_Mutation_p.Q221P	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	237	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q237P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTTCGTAGCTGATTCGTGAA	0.468																																																1	Substitution - Missense(1)	kidney(1)											197	167	178					16																	9012898		2197	4300	6497	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.710A>C	16.37:g.9012898T>G	ENSP00000343535:p.Gln237Pro		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567048	0.45694	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T;T	0.32988	1.55;1.43;1.55;1.55	5.69	5.69	0.88448	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	N	0.10664	0.02	0.80722	D	1	D;D	0.69078	0.987;0.997	D;D	0.68192	0.956;0.956	T	0.33471	-0.9867	10	0.29301	T	0.29	.	15.9537	0.79865	0.0:0.0:0.0:1.0	.	237;221	Q93009;B7Z815	UBP7_HUMAN;.	P	237;245;138;138;179	ENSP00000343535:Q237P;ENSP00000371310:Q245P;ENSP00000443646:Q138P;ENSP00000439272:Q179P	ENSP00000343535:Q237P	Q	-	2	0	USP7	8920399	1.000000	0.71417	0.783000	0.31826	0.548000	0.35241	7.921000	0.87530	2.179000	0.69175	0.528000	0.53228	CAG		0.468	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			G	9012898	T	G	9012898	3	3	317	1	0	0	0	0	1	0	0	0	17093	1580	55	5	2702	5	USP7	16	9012898	Missense_Mutation	SNP	T	TCGA-BP-4164-01A-02D-1386-10		9012898	81341855	38	18829											
MYH1	4619	broad.mit.edu;hgsc.bcm.edu	37	17	10419922	10419922	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr17:10419922G>A	ENST00000226207.5	-	3	132	c.38C>T	c.(37-39)gCt>gTt	p.A13V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	13					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A13V(1)|p.A13D(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAAAGGAGCAGCCTCCCCAAA	0.502																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											79	74	76					17																	10419922		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.38C>T	17.37:g.10419922G>A	ENSP00000226207:p.Ala13Val		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377028	0.95945	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.87966	-2.32	5.36	5.36	0.76844	.	0.000000	0.42964	U	0.000640	D	0.92990	0.7769	M	0.86502	2.82	0.80722	D	1	D	0.59767	0.986	P	0.54889	0.763	D	0.93901	0.7188	10	0.87932	D	0	.	19.2789	0.94044	0.0:0.0:1.0:0.0	.	13	P12882	MYH1_HUMAN	V	13	ENSP00000226207:A13V	ENSP00000226207:A13V	A	-	2	0	MYH1	10360647	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.636000	0.98440	2.774000	0.95407	0.655000	0.94253	GCT		0.502	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		A	10419922	G	A	10419922	3	1	317	1	0	0	0	0	1	0	0	0	10031	971	34	2	5933	2	MYH1	17	10419922	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10		10419922	70775288	39	18830											
DHX8	1659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41582097	41582097	+	Silent	SNP	G	G	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr17:41582097G>T	ENST00000262415.3	+	12	1704	c.1632G>T	c.(1630-1632)ggG>ggT	p.G544G	DHX8_ENST00000540306.1_Silent_p.G544G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	544					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.G544G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGCCTTTGGGGGCAACAAAG	0.498																																					NSCLC(56;1548 1661 49258 49987)											1	Substitution - coding silent(1)	kidney(1)											149	150	150					17																	41582097		2203	4300	6503	SO:0001819	synonymous_variant	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1632G>T	17.37:g.41582097G>T				Silent	SNP	ENST00000262415.3	37	CCDS11464.1																																																																																				0.498	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			T	41582097	G	T	41582097	2	4	317	1	0	0	0	0	0	0	0	1	4517	1219	43	4		4	DHX8	17	41582097	Silent	SNP	G	TCGA-BP-4164-01A-02D-1386-10	31162175	41582097	39613113	40	18831											
OTOP2	92736	broad.mit.edu;hgsc.bcm.edu	37	17	72920812	72920812	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr17:72920812C>G	ENST00000580223.1	+	1	115	c.85C>G	c.(85-87)Cgc>Ggc	p.R29G	OTOP2_ENST00000331427.4_Missense_Mutation_p.R29G|USH1G_ENST00000319642.1_5'Flank			Q7RTS6	OTOP2_HUMAN	otopetrin 2	29						integral component of membrane (GO:0016021)		p.R29G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GAAGGGTGGCCGCCTGCTGTC	0.706																																																1	Substitution - Missense(1)	kidney(1)											20	17	18					17																	72920812		2194	4298	6492	SO:0001583	missense	92736			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.85C>G	17.37:g.72920812C>G	ENSP00000463837:p.Arg29Gly			Missense_Mutation	SNP	ENST00000580223.1	37	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567190	0.65651	.	.	ENSG00000183034	ENST00000331427	T	0.10860	2.83	3.99	3.99	0.46301	.	0.074165	0.64402	D	0.000020	T	0.28732	0.0712	L	0.58101	1.795	0.42411	D	0.992605	D	0.89917	1.0	D	0.70716	0.97	T	0.04811	-1.0925	10	0.56958	D	0.05	-6.7234	16.2671	0.82593	0.0:1.0:0.0:0.0	.	29	Q7RTS6	OTOP2_HUMAN	G	29	ENSP00000332528:R29G	ENSP00000332528:R29G	R	+	1	0	OTOP2	70432407	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.556000	0.45862	2.052000	0.61016	0.455000	0.32223	CGC		0.706	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		G	72920812	C	G	72920812	3	3	317	1	0	0	0	0	1	0	0	0	11308	652	23	4	87	4	OTOP2	17	72920812	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10	31338715	72920812	8274398	41	18832											
S1PR4	8698	hgsc.bcm.edu	37	19	3179874	3179874	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr19:3179874C>T	ENST00000246115.3	+	1	1139	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	362					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GGACAGCTTTCGCGGCTCCCG	0.672																																					GBM(82;318 1638 33279 49708)											0													48	58	55					19																	3179874		2177	4239	6416	SO:0001583	missense	8698			AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.1084C>T	19.37:g.3179874C>T	ENSP00000246115:p.Arg362Cys		D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396885	0.42512	.	.	ENSG00000125910	ENST00000246115	D	0.82255	-1.59	3.94	3.94	0.45596	.	0.699358	0.12803	N	0.437822	D	0.86377	0.5918	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.86430	0.1760	10	0.72032	D	0.01	.	14.7234	0.69326	0.0:1.0:0.0:0.0	.	362	O95977	S1PR4_HUMAN	C	362	ENSP00000246115:R362C	ENSP00000246115:R362C	R	+	1	0	S1PR4	3130874	0.999000	0.42202	0.590000	0.28732	0.137000	0.21094	2.774000	0.47694	2.053000	0.61076	0.561000	0.74099	CGC		0.672	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		T	3179874	C	T	3179874	3	4	317	1	0	0	0	0	1	0	0	0	13802	884	31	1	1086	1	S1PR4	19	3179874	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10		3179874	55949109	42	18833											
SCAF1	58506	hgsc.bcm.edu	37	19	50154294	50154295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr19:50154294_50154295insC	ENST00000360565.3	+	7	772_773	c.648_649insC	c.(649-651)cccfs	p.P217fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	217	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.A219fs*11(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGCCCCCTGCACCCCCAGCCCC	0.688																																																1	Insertion - Frameshift(1)	central_nervous_system(1)																																								SO:0001589	frameshift_variant	58506			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.653dupC	19.37:g.50154299_50154299dupC	ENSP00000353769:p.Pro217fs		Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Ins	INS	ENST00000360565.3	37	CCDS33074.1																																																																																				0.688	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		C	50154295	-	C	50154294	7	5	317	1	0	1	1	0	0	0	0	0	13874	146	6	0	670	0	SCAF1	19	50154294	Frame_Shift_Ins	INS	-	TCGA-BP-4164-01A-02D-1386-10	46974420	50154294	8974689	43	18834											
DEFB115	245929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	29847316	29847316	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr20:29847316A>G	ENST00000400552.1	+	2	148	c.148A>G	c.(148-150)Aaa>Gaa	p.K50E		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	50					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.K50E(1)		kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			GAAATCATGCAAAGAAATTGA	0.338																																																1	Substitution - Missense(1)	kidney(1)											83	79	80					20																	29847316		1834	4090	5924	SO:0001583	missense	245929			DQ012019	CCDS42859.1	20q11.1	2008-07-17			ENSG00000215547	ENSG00000215547		"Defensins, beta"	18096	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037730		Approved	DEFB-15	uc002wvp.1	Q30KQ5	OTTHUMG00000159284	ENST00000400552.1:c.148A>G	20.37:g.29847316A>G	ENSP00000383398:p.Lys50Glu			Missense_Mutation	SNP	ENST00000400552.1	37	CCDS42859.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940854	0.34283	.	.	ENSG00000215547	ENST00000400552	T	0.33438	1.41	2.94	2.94	0.34122	.	.	.	.	.	T	0.41305	0.1153	.	.	.	0.09310	N	1	D	0.60160	0.987	P	0.56088	0.791	T	0.14062	-1.0486	8	0.59425	D	0.04	.	7.7125	0.28686	1.0:0.0:0.0:0.0	.	50	Q30KQ5	DB115_HUMAN	E	50	ENSP00000383398:K50E	ENSP00000383398:K50E	K	+	1	0	DEFB115	29310977	0.640000	0.27243	0.296000	0.24974	0.315000	0.28087	1.219000	0.32479	1.612000	0.50221	0.329000	0.21502	AAA		0.338	DEFB115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354402.1	NM_001037730		G	29847316	A	G	29847316	3	3	317	1	0	0	0	0	1	0	0	0	4406	131	5	3	154	3	DEFB115	20	29847316	Missense_Mutation	SNP	A	TCGA-BP-4164-01A-02D-1386-10		29847316	33178204	44	18835											
RPS21	6227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	60963416	60963419	+	Splice_Site	DEL	TCAA	TCAA	-			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	TCAA	TCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr20:60963416_60963419delTCAA	ENST00000343986.4	+	5	277_280	c.238_241delTCAA	c.(238-243)tcaaag>ag	p.SK80fs	RPS21_ENST00000370562.1_3'UTR|RPS21_ENST00000450116.2_Frame_Shift_Del_p.SK80fs|RPS21_ENST00000492356.2_3'UTR	NM_001024.3	NP_001015.1	P63220	RS21_HUMAN	ribosomal protein S21	80					cellular protein metabolic process (GO:0044267)|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 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000461)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|structural constituent of ribosome (GO:0003735)			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCATCGTCTCAAAGTAAGGTTG	0.485																																																0																																										SO:0001630	splice_region_variant	6227			L04483	CCDS13497.1	20q13.3	2011-04-05			ENSG00000171858	ENSG00000171858		"S ribosomal proteins"	10409	protein-coding gene	gene with protein product	"8.2 kDa differentiation factor"	180477				8332502, 9582194	Standard	NM_001024		Approved	S21	uc002ycr.3	P63220	OTTHUMG00000032915	ENST00000343986.4:c.242+1TCAA>-	20.37:g.60963416_60963419delTCAA			P35265	Frame_Shift_Del	DEL	ENST00000343986.4	37	CCDS13497.1																																																																																				0.485	RPS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080031.2	NM_001024	Frame_Shift_Del	-	60963419	TCAA	-	60963416	8	5	317	1	0	1	0	1	0	0	1	0	13639	1551	54	0	252	0	RPS21	20	60963416	Splice_Site	DEL	TCAA	TCGA-BP-4164-01A-02D-1386-10	31116100	60963416	2062104	45	18836											
DIP2A	23181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47969770	47969770	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr21:47969770G>A	ENST00000417564.2	+	22	2630	c.2609G>A	c.(2608-2610)aGc>aAc	p.S870N	DIP2A_ENST00000400274.1_Missense_Mutation_p.S866N|DIP2A_ENST00000427143.2_Missense_Mutation_p.S806N|DIP2A_ENST00000457905.3_Missense_Mutation_p.S870N|DIP2A_ENST00000318711.7_Missense_Mutation_p.S871N			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	870					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S871N(1)|p.S806N(1)|p.S870N(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GAGGAGGACAGCTTCCAGTGG	0.647																																																3	Substitution - Missense(3)	kidney(3)											69	77	74					21																	47969770		2202	4300	6502	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2609G>A	21.37:g.47969770G>A	ENSP00000392066:p.Ser870Asn		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831797	0.91036	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000457905;ENST00000417564	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	4.77	4.77	0.60923	.	0.098347	0.64402	D	0.000002	T	0.35595	0.0937	M	0.82056	2.57	0.52501	D	0.999958	D;D;D;D	0.89917	1.0;0.991;0.991;0.999	D;D;D;D	0.87578	0.998;0.917;0.917;0.986	T	0.10245	-1.0638	10	0.37606	T	0.19	-22.0843	17.1613	0.86804	0.0:0.0:1.0:0.0	.	871;806;870;870	E9PER1;E7EMA5;Q14689;Q14689-4	.;.;DIP2A_HUMAN;.	N	866;806;871;870;870	ENSP00000383133:S866N;ENSP00000400528:S806N;ENSP00000323633:S871N;ENSP00000393434:S870N;ENSP00000392066:S870N	ENSP00000323633:S871N	S	+	2	0	DIP2A	46794198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.667000	0.83888	2.355000	0.79922	0.655000	0.94253	AGC		0.647	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		A	47969770	G	A	47969770	3	1	317	1	0	0	0	0	1	0	0	0	4529	971	34	2	2744	2	DIP2A	21	47969770	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10		47969770	160125	46	18837											
RIMBP3	85376	hgsc.bcm.edu	37	22	20460113	20460115	+	In_Frame_Del	DEL	CCG	CCG	-	rs201820173		TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	CCG	CCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr22:20460113_20460115delCCG	ENST00000426804.1	-	1	1671_1673	c.1187_1189delCGG	c.(1186-1191)gcggag>gag	p.A396del		NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	396				A -> E (in Ref. 2; BAB33336). {ECO:0000305}.						breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGCTTGTTCTCCGCTTGCAGGGT	0.675																																																0																																										SO:0001651	inframe_deletion	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.1187_1189delCGG	22.37:g.20460113_20460115delCCG	ENSP00000391564:p.Ala396del		Q8IYP7|Q9BY94|Q9UFQ5	In_Frame_Del	DEL	ENST00000426804.1	37	CCDS46665.1																																																																																				0.675	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		-	20460115	CCG	-	20460113	7	5	317	1	0	1	0	1	0	0	0	0	13370	864	30	0	3734	0	RIMBP3	22	20460113	In_Frame_Del	DEL	CCG	TCGA-BP-4164-01A-02D-1386-10		20460113	30844453	47	18838											
TRIOBP	11078	hgsc.bcm.edu;ucsc.edu	37	22	38109337	38109337	+	Silent	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chr22:38109337C>T	ENST00000406386.3	+	5	630	c.375C>T	c.(373-375)agC>agT	p.S125S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	125					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGTGTGGCAGCTGCAACGAGG	0.647																																																0													86	104	98					22																	38109337		2113	4247	6360	SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.375C>T	22.37:g.38109337C>T			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																				0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38109337	C	T	38109337	2	4	317	1	0	0	0	0	0	0	0	1	16558	796	28	2		2	TRIOBP	22	38109337	Silent	SNP	C	TCGA-BP-4164-01A-02D-1386-10	17649224	38109337	13195229	48	18839											
FAM47A	158724	broad.mit.edu	37	X	34148877	34148877	+	Missense_Mutation	SNP	C	C	G	rs5973088		TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chrX:34148877C>G	ENST00000346193.3	-	1	1570	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	507			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.					p.E507Q(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGGAGGCTCCGAGCGGAGA	0.647																																																1	Substitution - Missense(1)	kidney(1)											29	29	29					X																	34148877		2181	4247	6428	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1519G>C	X.37:g.34148877C>G	ENSP00000345029:p.Glu507Gln		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	6	0.003616636528028933	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	2	0.002638522427440633	c	9.299	1.052687	0.19907	.	.	ENSG00000185448	ENST00000346193	T	0.14391	2.51	0.226	0.226	0.15353	.	.	.	.	.	T	0.05227	0.0139	L	0.27053	0.805	0.09310	N	1	B	0.24483	0.104	B	0.16722	0.016	T	0.41466	-0.9507	8	0.17832	T	0.49	.	.	.	.	rs5973088	507	Q5JRC9	FA47A_HUMAN	Q	507	ENSP00000345029:E507Q	ENSP00000345029:E507Q	E	-	1	0	FAM47A	34058798	0.053000	0.20554	0.000000	0.03702	0.001000	0.01503	1.713000	0.37951	0.283000	0.22279	0.287000	0.19450	GAG		0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		G	34148877	C	G	34148877	3	3	317	1	0	0	0	0	1	0	0	0	5571	864	30	4	860	4	FAM47A	23	34148877	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10		34148877	121121683	49	18840											
PHF16	9767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	46887437	46887437	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chrX:46887437C>T	ENST00000218343.4	+	6	917	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	PHF16_ENST00000397189.1_Missense_Mutation_p.R207W	NM_014735.3	NP_055550.1												p.R207W(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGATGTGTGCCGGTCTCCAGA	0.468																																																1	Substitution - Missense(1)	kidney(1)											355	227	271					X																	46887437		2203	4300	6503	SO:0001583	missense	9767																														ENST00000218343.4:c.619C>T	X.37:g.46887437C>T	ENSP00000218343:p.Arg207Trp			Missense_Mutation	SNP	ENST00000218343.4	37	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229256	0.95173	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	D;D	0.88664	-2.41;-2.41	5.78	5.78	0.91487	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.049394	0.85682	D	0.000000	D	0.94951	0.8367	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94781	0.7953	9	.	.	.	.	18.973	0.92722	0.0:1.0:0.0:0.0	.	207	Q92613	JADE3_HUMAN	W	207	ENSP00000380373:R207W;ENSP00000218343:R207W	.	R	+	1	2	PHF16	46772381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.713000	0.84693	2.428000	0.82296	0.594000	0.82650	CGG		0.468	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			T	46887437	C	T	46887437	3	4	317	1	0	0	0	0	1	0	0	0	11829	643	23	1	637	1	PHF16	23	46887437	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10	12738560	46887437	108383123	50	18841											
TGIF2LX	90316	broad.mit.edu;hgsc.bcm.edu	37	X	89177557	89177557	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chrX:89177557C>A	ENST00000561129.2	+	1	603	c.473C>A	c.(472-474)cCc>cAc	p.P158H	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P158H			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P158H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CAAAGCCTGCCCCTGTGGCCC	0.602																																																1	Substitution - Missense(1)	kidney(1)											44	46	45					X																	89177557		2203	4300	6503	SO:0001583	missense	90316			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.473C>A	X.37:g.89177557C>A	ENSP00000453704:p.Pro158His		Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831676	0.32421	.	.	ENSG00000153779	ENST00000283891	T	0.66815	-0.23	2.38	0.433	0.16534	.	2.322460	0.02478	N	0.088187	T	0.76962	0.4061	M	0.63843	1.955	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.53968	-0.8363	9	.	.	.	-4.6386	3.8679	0.09024	0.2368:0.6094:0.0:0.1538	.	158	Q8IUE1	TF2LX_HUMAN	H	158	ENSP00000355119:P158H	.	P	+	2	0	TGIF2LX	89064213	0.003000	0.15002	0.000000	0.03702	0.012000	0.07955	1.352000	0.34033	0.009000	0.14813	0.506000	0.49869	CCC		0.602	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		A	89177557	C	A	89177557	3	1	317	1	0	0	0	0	1	0	0	0	15832	623	22	4	475	4	TGIF2LX	23	89177557	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02D-1386-10	42290120	89177557	66093003	51	18842											
TBC1D8B	54885	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	106093257	106093257	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chrX:106093257G>A	ENST00000357242.5	+	12	2014	c.1840G>A	c.(1840-1842)Gcc>Acc	p.A614T	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.A608T	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	614	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.A614T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCTGTAGGTGCCTTGGTGGA	0.383																																																1	Substitution - Missense(1)	kidney(1)											138	114	122					X																	106093257		2203	4300	6503	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1840G>A	X.37:g.106093257G>A	ENSP00000349781:p.Ala614Thr		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696674	0.88830	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.21734	1.99;1.99	4.76	4.76	0.60689	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23404	-1.0189	10	0.29301	T	0.29	-6.6176	15.6789	0.77352	0.0:0.0:1.0:0.0	.	614	Q0IIM8	TBC8B_HUMAN	T	614;608	ENSP00000349781:A614T;ENSP00000276175:A608T	ENSP00000276175:A608T	A	+	1	0	TBC1D8B	105979913	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.813000	0.99286	2.082000	0.62665	0.594000	0.82650	GCC		0.383	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		A	106093257	G	A	106093257	3	1	317	1	0	0	0	0	1	0	0	0	15631	1319	46	2	1952	2	TBC1D8B	23	106093257	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10	16915700	106093257	49177303	52	18843											
TAZ	6901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153649068	153649068	+	Missense_Mutation	SNP	G	G	T	rs368990588		TCGA-BP-4164-01A-02D-1386-10	TCGA-BP-4164-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	feb8c145-040a-40c0-96f6-a2b389073dd9	8eb5b726-ce04-4244-a453-0dfa12704f79	g.chrX:153649068G>T	ENST00000350743.4	+	9	970	c.681G>T	c.(679-681)aaG>aaT	p.K227N	TAZ_ENST00000369776.4_Missense_Mutation_p.K227N|TAZ_ENST00000351413.4_Missense_Mutation_p.K243N|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000475699.1_Missense_Mutation_p.K230N|TAZ_ENST00000299328.5_Missense_Mutation_p.K257N|TAZ_ENST00000369790.4_Missense_Mutation_p.K213N	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K257N(1)		lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGAGAACAAGTCGGCTGTGA	0.647																																																1	Substitution - Missense(1)	kidney(1)											67	62	64					X																	153649068		2203	4300	6503	SO:0001583	missense	6901			X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"Barth syndrome"	300394	"endocardial fibroelastosis 2", "cardiomyopathy, dilated 3A (X-linked)"	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.681G>T	X.37:g.153649068G>T	ENSP00000338891:p.Lys227Asn		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115934	0.37339	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000351413;ENST00000369776;ENST00000475699	D;D;D;D;D;D	0.98531	-3.25;-3.25;-3.25;-3.25;-4.98;-3.25	4.79	3.02	0.34903	.	0.183845	0.46145	D	0.000306	D	0.96648	0.8906	L	0.57536	1.79	0.31414	N	0.675073	P;P;B;P;P;D	0.53619	0.823;0.615;0.441;0.687;0.745;0.961	P;B;B;B;P;P	0.49637	0.459;0.28;0.238;0.398;0.568;0.617	D	0.93515	0.6856	10	0.18710	T	0.47	-7.3388	6.678	0.23106	0.3095:0.0:0.6905:0.0	.	261;227;213;227;243;257	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	N	213;257;227;243;227;230	ENSP00000358805:K213N;ENSP00000299328:K257N;ENSP00000338891:K227N;ENSP00000218246:K243N;ENSP00000358791:K227N;ENSP00000419854:K230N	ENSP00000299328:K257N	K	+	3	2	TAZ	153302262	1.000000	0.71417	0.800000	0.32199	0.286000	0.27126	0.963000	0.29293	0.320000	0.23234	0.525000	0.51046	AAG		0.647	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			T	153649068	G	T	153649068	3	4	317	1	0	0	0	0	1	0	0	0	15601	1020	36	4	809	4	TAZ	23	153649068	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02D-1386-10	47555811	153649068	1621492	53	18844											
VHL	7428	hgsc.bcm.edu	37	3	10183646	10183646	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4164-01A-02W-1382-10	TCGA-BP-4164-11A-01W-1244-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	94a19895-3cda-423b-a794-6944be76cc68	61b19171-22fd-4ca7-ba5b-fc15b0003fd2	g.chr3:10183646G>A	ENST00000256474.2	+	1	955	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.G39S	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	39	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G39S(2)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGAGGAGTCCGGCCCGGAAGA	0.736		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	2	Substitution - Missense(2)	kidney(2)											6	9	8					3																	10183646		1998	3901	5899	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.115G>A	3.37:g.10183646G>A	ENSP00000256474:p.Gly39Ser		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827744	0.50845	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.85773	-2.03;-2.03	3.71	-0.384	0.12474	.	0.363857	0.24742	N	0.035963	T	0.66470	0.2792	N	0.19112	0.55	0.09310	N	1	B;B	0.20780	0.048;0.013	B;B	0.11329	0.006;0.002	T	0.51244	-0.8730	10	0.35671	T	0.21	-1.8965	1.3303	0.02133	0.2144:0.3545:0.274:0.1571	.	39;39	P40337-2;P40337	.;VHL_HUMAN	S	39	ENSP00000256474:G39S;ENSP00000344757:G39S	ENSP00000256474:G39S	G	+	1	0	VHL	10158646	0.001000	0.12720	0.000000	0.03702	0.046000	0.14306	0.486000	0.22340	-0.085000	0.12573	0.555000	0.69702	GGC		0.736	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183646	G	A	10183646	3	1	318	1	0	0	0	0	1	0	0	0	17167	1116	39	1	117	1	VHL	3	10183646	Missense_Mutation	SNP	G	TCGA-BP-4164-01A-02W-1382-10		10183646	187838784	1	18845	149	4									
VHL	7428	hgsc.bcm.edu	37	3	10183653	10183653	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4164-01A-02W-1382-10	TCGA-BP-4164-11A-01W-1244-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	94a19895-3cda-423b-a794-6944be76cc68	61b19171-22fd-4ca7-ba5b-fc15b0003fd2	g.chr3:10183653A>G	ENST00000256474.2	+	1	962	c.122A>G	c.(121-123)gAa>gGa	p.E41G	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.E41G	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	41	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E41V(2)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCCGGCCCGGAAGAGTCCGGC	0.741		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	2	Substitution - Missense(2)	kidney(2)											6	9	8					3																	10183653		2033	3967	6000	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.122A>G	3.37:g.10183653A>G	ENSP00000256474:p.Glu41Gly		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.074053	0.55646	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.81996	-1.56;-1.56	3.51	-0.255	0.12988	.	0.388567	0.18780	N	0.131372	T	0.65165	0.2665	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.54761	-0.8245	10	0.72032	D	0.01	-0.9626	2.9359	0.05815	0.4622:0.0:0.3389:0.1988	.	41;41	P40337-2;P40337	.;VHL_HUMAN	G	41	ENSP00000256474:E41G;ENSP00000344757:E41G	ENSP00000256474:E41G	E	+	2	0	VHL	10158653	0.000000	0.05858	0.008000	0.14137	0.070000	0.16714	-0.836000	0.04382	-0.037000	0.13646	0.397000	0.26171	GAA		0.741	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183653	A	G	10183653	3	3	318	1	0	0	0	0	1	0	0	0	17167	246	9	3	124	3	VHL	3	10183653	Missense_Mutation	SNP	A	TCGA-BP-4164-01A-02W-1382-10	7	10183653	187838777	2	18846	149	4									
VHL	7428	hgsc.bcm.edu	37	3	10183659	10183659	+	Missense_Mutation	SNP	C	C	T	rs202164771		TCGA-BP-4164-01A-02W-1382-10	TCGA-BP-4164-11A-01W-1244-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	94a19895-3cda-423b-a794-6944be76cc68	61b19171-22fd-4ca7-ba5b-fc15b0003fd2	g.chr3:10183659C>T	ENST00000256474.2	+	1	968	c.128C>T	c.(127-129)tCc>tTc	p.S43F	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.S43F	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	43	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)			adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCGGAAGAGTCCGGCCCGGAG	0.731		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	0													6	9	8					3																	10183659		2051	4000	6051	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.128C>T	3.37:g.10183659C>T	ENSP00000256474:p.Ser43Phe		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	9.166	1.019898	0.19355	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.84873	-1.91;-1.91	2.91	0.996	0.19844	.	1.235560	0.06248	N	0.691590	T	0.74794	0.3763	N	0.19112	0.55	0.09310	N	1	P;B	0.39782	0.688;0.139	B;B	0.34242	0.178;0.037	T	0.63844	-0.6545	10	0.62326	D	0.03	-3.9402	10.7123	0.45990	0.0:0.4032:0.5968:0.0	.	43;43	P40337-2;P40337	.;VHL_HUMAN	F	43	ENSP00000256474:S43F;ENSP00000344757:S43F	ENSP00000256474:S43F	S	+	2	0	VHL	10158659	0.003000	0.15002	0.013000	0.15412	0.035000	0.12851	0.175000	0.16762	0.260000	0.21731	0.555000	0.69702	TCC		0.731	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183659	C	T	10183659	3	4	318	1	0	0	0	0	1	0	0	0	17167	855	30	2	130	2	VHL	3	10183659	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02W-1382-10	6	10183659	187838771	3	18847	149	4									
VHL	7428	hgsc.bcm.edu	37	3	10183665	10183665	+	Missense_Mutation	SNP	C	C	T	rs199583685		TCGA-BP-4164-01A-02W-1382-10	TCGA-BP-4164-11A-01W-1244-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	94a19895-3cda-423b-a794-6944be76cc68	61b19171-22fd-4ca7-ba5b-fc15b0003fd2	g.chr3:10183665C>T	ENST00000256474.2	+	1	974	c.134C>T	c.(133-135)cCg>cTg	p.P45L	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.P45L	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	45	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)			adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GAGTCCGGCCCGGAGGAACTG	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				C|||	1	0.000199681	0.0	0.0	5008	,	,		10527	0.001		0.0	False		,,,				2504	0.0					yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	0																																										SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.134C>T	3.37:g.10183665C>T	ENSP00000256474:p.Pro45Leu		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.59	2.580733	0.46006	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.84298	-1.83;-1.83	3.53	0.582	0.17412	.	1.482540	0.04888	N	0.448902	T	0.73737	0.3625	N	0.19112	0.55	0.09310	N	1	B;B	0.22604	0.072;0.043	B;B	0.19666	0.026;0.012	T	0.61192	-0.7112	10	0.72032	D	0.01	0.0061	2.9019	0.05708	0.1708:0.3546:0.3717:0.1029	.	45;45	P40337-2;P40337	.;VHL_HUMAN	L	45	ENSP00000256474:P45L;ENSP00000344757:P45L	ENSP00000256474:P45L	P	+	2	0	VHL	10158665	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.435000	0.21510	0.107000	0.17824	0.555000	0.69702	CCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183665	C	T	10183665	3	4	318	1	0	0	0	0	1	0	0	0	17167	652	23	1	136	1	VHL	3	10183665	Missense_Mutation	SNP	C	TCGA-BP-4164-01A-02W-1382-10	6	10183665	187838765	4	18848	149	4									
SUCLG1	8802	hgsc.bcm.edu	37	2	84686333	84686337	+	Frame_Shift_Del	DEL	GGCCG	GGCCG	-			TCGA-BP-4165-01A-02W-1362-10	TCGA-BP-4165-11A-01W-1362-10	GGCCG	GGCCG	GGCCG	-	GGCCG	GGCCG	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	79837c35-321a-419b-a27b-26a5385c774e	f91c667a-e82c-41f8-9d6a-6bd74620085b	g.chr2:84686333_84686337delGGCCG	ENST00000393868.2	-	1	267_271	c.57_61delCGGCC	c.(55-63)agcggcctcfs	p.GL20fs		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	20					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	GCGGCGGCGAGGCCGCTGCTGCCGG	0.698																																					Ovarian(48;203 1101 37206 40305 50790)											0																																										SO:0001589	frameshift_variant	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.57_61delCGGCC	2.37:g.84686333_84686337delGGCCG	ENSP00000377446:p.Gly20fs		Q9BWB0|Q9UNP6	Frame_Shift_Del	DEL	ENST00000393868.2	37	CCDS1967.2																																																																																				0.698	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		-	84686337	GGCCG	-	84686333	7	5	319	1	0	1	0	1	0	0	0	0	15369	1000	35	0	1015	0	SUCLG1	2	84686333	Frame_Shift_Del	DEL	GGCCG	TCGA-BP-4165-01A-02W-1362-10		84686333	158513040	1	18849	150	2									
SUCLG1	8802	hgsc.bcm.edu	37	2	84686342	84686342	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4165-01A-02W-1362-10	TCGA-BP-4165-11A-01W-1362-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	79837c35-321a-419b-a27b-26a5385c774e	f91c667a-e82c-41f8-9d6a-6bd74620085b	g.chr2:84686342T>G	ENST00000393868.2	-	1	262	c.52A>C	c.(52-54)Agc>Cgc	p.S18R		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	18					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	AGGCCGCTGCTGCCGGAGACC	0.701																																					Ovarian(48;203 1101 37206 40305 50790)											0													13	14	14					2																	84686342		1790	3418	5208	SO:0001583	missense	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.52A>C	2.37:g.84686342T>G	ENSP00000377446:p.Ser18Arg		Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045722	0.55110	.	.	ENSG00000163541	ENST00000393868	D	0.94000	-3.33	5.16	0.999	0.19862	.	0.471030	0.24530	N	0.037729	T	0.82125	0.4969	N	0.08118	0	0.26332	N	0.977503	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.73282	-0.4032	10	0.66056	D	0.02	-0.1921	5.4383	0.16494	0.2966:0.0:0.1537:0.5497	.	18;18	B7Z438;P53597	.;SUCA_HUMAN	R	18	ENSP00000377446:S18R	ENSP00000377446:S18R	S	-	1	0	SUCLG1	84539853	0.989000	0.36119	0.998000	0.56505	0.243000	0.25628	0.475000	0.22164	0.350000	0.24002	-0.666000	0.03841	AGC		0.701	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		G	84686342	T	G	84686342	3	3	319	1	0	0	0	0	1	0	0	0	15369	1580	55	5	1024	5	SUCLG1	2	84686342	Missense_Mutation	SNP	T	TCGA-BP-4165-01A-02W-1362-10	9	84686342	158513031	2	18850	150	2									
VHL	7428	hgsc.bcm.edu	37	3	10183793	10183793	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4166-01A-02W-1362-10	TCGA-BP-4166-11A-01W-1362-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	67fc0045-7628-4ef4-bef4-7f4f9354be45	70d9f823-dc5e-4da2-9b33-fde5df0d0459	g.chr3:10183793T>A	ENST00000256474.2	+	1	1102	c.262T>A	c.(262-264)Tgg>Agg	p.W88R	VHL_ENST00000345392.2_Missense_Mutation_p.W88R|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	88			W -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|W -> S (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W88R(6)|p.V87_W88del(2)|p.W88G(2)|p.V87_W88>G(1)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.W88fs*43(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCTGCCCGTATGGCTCAACTT	0.726		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	15	Substitution - Missense(8)|Deletion - Frameshift(3)|Complex - deletion inframe(2)|Deletion - In frame(2)	kidney(15)	GRCh37	CM031392|CM951278	VHL	M							13	16	15					3																	10183793		2121	4176	6297	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.262T>A	3.37:g.10183793T>A	ENSP00000256474:p.Trp88Arg		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378914	0.82682	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99962	-9.39;-9.39	5.16	3.98	0.46160	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99957	0.9982	M	0.84773	2.715	0.35532	D	0.802368	D;D	0.76494	0.999;0.985	D;D	0.85130	0.997;0.937	D	0.93493	0.6837	10	0.87932	D	0	-1.5857	8.5019	0.33163	0.0:0.0974:0.0:0.9025	.	88;88	P40337-2;P40337	.;VHL_HUMAN	R	88	ENSP00000256474:W88R;ENSP00000344757:W88R	ENSP00000256474:W88R	W	+	1	0	VHL	10158793	1.000000	0.71417	0.982000	0.44146	0.828000	0.46876	4.914000	0.63348	0.795000	0.33922	0.450000	0.29827	TGG		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183793	T	A	10183793	3	1	320	1	0	0	0	0	1	0	0	0	17167	1464	51	5	264	5	VHL	3	10183793	Missense_Mutation	SNP	T	TCGA-BP-4166-01A-02W-1362-10		10183793	187838637	1	18851											
COL11A1	1301	broad.mit.edu;ucsc.edu	37	1	103444415	103444415	+	Splice_Site	SNP	C	C	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr1:103444415C>A	ENST00000370096.3	-	34	3022		c.e34+1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.?(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGGTGATACCTTTGGCCCA	0.413																																																2	Unknown(2)	kidney(2)											83	89	87					1																	103444415		2203	4300	6503	SO:0001630	splice_region_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2709+1G>T	1.37:g.103444415C>A			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542032	0.85917	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0619	0.93096	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103217003	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.343000	0.79319	2.506000	0.84524	0.655000	0.94253	.		0.413	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	A	103444415	C	A	103444415	5	1	321	1	0	0	0	0	0	0	1	0	3669	521	18	4	2846	4	COL11A1	1	103444415	Splice_Site	SNP	C	TCGA-BP-4167-01A-02D-1386-10		103444415	145806206	1	18852											
ANP32E	81611	hgsc.bcm.edu	37	1	150199042	150199042	+	Missense_Mutation	SNP	C	C	A	rs56692627|rs28594165|rs68136184	byFrequency	TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr1:150199042C>A	ENST00000314136.8	-	5	948	c.579G>T	c.(577-579)gaG>gaT	p.E193D	ANP32E_ENST00000369115.2_Missense_Mutation_p.E61D|ANP32E_ENST00000369119.3_Missense_Mutation_p.E145D|ANP32E_ENST00000369116.4_Missense_Mutation_p.E61D|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000436748.2_Missense_Mutation_p.E152D|ANP32E_ENST00000533654.1_Missense_Mutation_p.R138M	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	193	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			cctcatcctcctcttcctctt	0.443																																																0													236	194	208					1																	150199042		2203	4300	6503	SO:0001583	missense	81611			AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.579G>T	1.37:g.150199042C>A	ENSP00000324074:p.Glu193Asp		B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	CCDS946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.397|0.397	-0.920493|-0.920493	0.02396|0.02396	.|.	.|.	ENSG00000143401|ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369116;ENST00000436748;ENST00000534437;ENST00000369115;ENST00000534220|ENST00000533654	T;T;T|T	0.00351|0.00342	7.97;7.97;7.97|8.03	3.62|3.62	-7.24|-7.24	0.01475|0.01475	.|.	.|.	.|.	.|.	.|.	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|B	0.02656|0.02656	0.0;0.0;0.0|0.0	B;B;B|B	0.04013|0.01281	0.001;0.0;0.0|0.0	T|T	0.45877|0.45877	-0.9231|-0.9231	9|9	0.11485|0.62326	T|D	0.65|0.03	.|.	0.0398|0.0398	0.00008|0.00008	0.2803:0.2244:0.1888:0.3065|0.2803:0.2244:0.1888:0.3065	rs28594165|rs28594165	152;193;145|138	E9PEA6;Q9BTT0;Q5TB20|E9PLC4	.;AN32E_HUMAN;.|.	D|M	193;145;61;152;7;61;71|138	ENSP00000324074:E193D;ENSP00000358115:E145D;ENSP00000393718:E152D|ENSP00000435215:R138M	ENSP00000324074:E193D|ENSP00000435215:R138M	E|R	-|-	3|2	2|0	ANP32E|ANP32E	148465666|148465666	0.087000|0.087000	0.21565|0.21565	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-2.245000|-2.245000	0.01192|0.01192	-3.665000|-3.665000	0.00124|0.00124	-2.619000|-2.619000	0.00157|0.00157	GAG|AGG		0.443	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		A	150199042	C	A	150199042	3	1	321	1	0	0	0	0	1	0	0	0	709	680	24	4	239	4	ANP32E	1	150199042	Missense_Mutation	SNP	C	TCGA-BP-4167-01A-02D-1386-10	46754627	150199042	99051579	2	18853	151	2									
ANP32E	81611	hgsc.bcm.edu	37	1	150199045	150199045	+	Silent	SNP	T	T	C	rs56692627|rs68136184|rs28460085	byFrequency	TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr1:150199045T>C	ENST00000314136.8	-	5	945	c.576A>G	c.(574-576)gaA>gaG	p.E192E	ANP32E_ENST00000369115.2_Silent_p.E60E|ANP32E_ENST00000369119.3_Silent_p.E144E|ANP32E_ENST00000369116.4_Silent_p.E60E|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000436748.2_Silent_p.E151E|ANP32E_ENST00000533654.1_Missense_Mutation_p.K137R	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	192	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			catcctcctcttcctcttcct	0.438																																																0													225	183	197					1																	150199045		2203	4300	6503	SO:0001819	synonymous_variant	81611			AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.576A>G	1.37:g.150199045T>C			B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Silent	SNP	ENST00000314136.8	37	CCDS946.1	.	.	.	.	.	.	.	.	.	.	T	4.124	0.021213	0.08006	.	.	ENSG00000143401	ENST00000533654	T	0.00337	8.05	4.98	-1.51	0.08664	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.24003	N	0.996202	B	0.02656	0.0	B	0.04013	0.001	T	0.15925	-1.0420	8	0.56958	D	0.05	.	4.2912	0.10879	0.3012:0.342:0.0:0.3568	rs28460085	137	E9PLC4	.	R	137	ENSP00000435215:K137R	ENSP00000435215:K137R	K	-	2	0	ANP32E	148465669	0.097000	0.21791	0.054000	0.19295	0.014000	0.08584	-2.180000	0.01258	-0.128000	0.11641	-0.366000	0.07423	AAG		0.438	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		C	150199045	T	C	150199045	2	2	321	1	0	0	0	0	0	0	0	1	709	1606	56	3		3	ANP32E	1	150199045	Silent	SNP	T	TCGA-BP-4167-01A-02D-1386-10	3	150199045	99051576	3	18854	151	2									
SPTA1	6708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158655094	158655094	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr1:158655094T>G	ENST00000368147.4	-	2	248	c.68A>C	c.(67-69)gAg>gCg	p.E23A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	23					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E23A(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCCTGGATCTCTTCTGCTGT	0.458																																																1	Substitution - Missense(1)	kidney(1)											146	144	145					1																	158655094		1890	4117	6007	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.68A>C	1.37:g.158655094T>G	ENSP00000357129:p.Glu23Ala		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962899	0.74016	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.34472	1.36;1.36	4.98	3.84	0.44239	.	0.000000	0.32608	N	0.005863	T	0.19805	0.0476	L	0.45581	1.43	0.43846	D	0.996434	B	0.21688	0.059	B	0.35039	0.194	T	0.04400	-1.0954	10	0.31617	T	0.26	.	11.0377	0.47811	0.0:0.0:0.1561:0.8439	.	23	P02549	SPTA1_HUMAN	A	23	ENSP00000357130:E23A;ENSP00000357129:E23A	ENSP00000357129:E23A	E	-	2	0	SPTA1	156921718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.558000	0.67319	0.907000	0.36646	0.383000	0.25322	GAG		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		G	158655094	T	G	158655094	3	3	321	1	0	0	0	0	1	0	0	0	15121	1551	54	5	7395	5	SPTA1	1	158655094	Missense_Mutation	SNP	T	TCGA-BP-4167-01A-02D-1386-10	8456049	158655094	90595527	4	18855											
BAT2L2	23215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171510546	171510546	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr1:171510546G>A	ENST00000338920.4	+	16	4172	c.3935G>A	c.(3934-3936)cGa>cAa	p.R1312Q	PRRC2C_ENST00000426496.2_Missense_Mutation_p.R1312Q|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R1314Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R1314Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1312					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R1314Q(2)									AATCATGTTCGAATAGATAAT	0.413																																																2	Substitution - Missense(2)	kidney(2)											50	51	51					1																	171510546		2203	4300	6503	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3935G>A	1.37:g.171510546G>A	ENSP00000343629:p.Arg1312Gln		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	11.05	1.523569	0.27299	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02103	4.45;4.45;4.45;4.45	5.51	5.51	0.81932	.	0.000000	0.38164	N	0.001793	T	0.01222	0.0040	L	0.51422	1.61	0.40495	D	0.980587	B	0.33494	0.414	B	0.20767	0.031	T	0.55379	-0.8150	10	0.48119	T	0.1	.	11.9918	0.53180	0.0794:0.0:0.9206:0.0	.	1312	Q9Y520-4	.	Q	1314;1313;1312;1314;1312;1069	ENSP00000375928:R1314Q;ENSP00000410219:R1312Q;ENSP00000356716:R1314Q;ENSP00000343629:R1312Q	ENSP00000343629:R1312Q	R	+	2	0	PRRC2C	169777170	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.221000	0.78016	2.577000	0.86979	0.563000	0.77884	CGA		0.413	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		A	171510546	G	A	171510546	3	1	321	1	0	0	0	0	1	0	0	0	1321	1058	37	1	3993	1	BAT2L2	1	171510546	Missense_Mutation	SNP	G	TCGA-BP-4167-01A-02D-1386-10	12855452	171510546	77740075	5	18856											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179604819	179604819	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr2:179604819C>T	ENST00000591111.1	-	46	12414	c.12190G>A	c.(12190-12192)Gaa>Aaa	p.E4064K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4210K|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.E4143K|TTN_ENST00000460472.2_Missense_Mutation_p.E4018K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E4381K			Q8WZ42	TITIN_HUMAN	titin	0					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)	p.E4143K(1)		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)			AGCAAGCTTTCCTTAGAAAGA	0.498																																																1	Substitution - Missense(1)	kidney(1)											57	56	57					2																	179604819		1837	4098	5935	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12190G>A	2.37:g.179604819C>T	ENSP00000465570:p.Glu4064Lys		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.55	3.418659	0.62622	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.66638	-0.14;-0.22;-0.22	5.7	5.7	0.88788	.	.	.	.	.	T	0.64327	0.2588	L	0.36672	1.1	0.43160	D	0.994948	P;P;P	0.52316	0.952;0.952;0.952	P;P;P	0.44518	0.452;0.452;0.452	T	0.69495	-0.5130	9	0.87932	D	0	.	19.8344	0.96650	0.0:1.0:0.0:0.0	.	4018;4143;4210	D3DPF9;E7EQE6;E7ET18	.;.;.	K	4018;4210;4143;4018	ENSP00000434586:E4018K;ENSP00000340554:E4210K;ENSP00000352154:E4143K	ENSP00000340554:E4210K	E	-	1	0	TTN	179313064	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.652000	0.83633	2.692000	0.91855	0.655000	0.94253	GAA		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179604819	C	T	179604819	3	4	321	1	0	0	0	0	1	0	0	0	16740	864	30	2	91648	2	TTN	2	179604819	Missense_Mutation	SNP	C	TCGA-BP-4167-01A-02D-1386-10		179604819	63594554	6	18857											
VHL	7428	hgsc.bcm.edu	37	3	10183820	10183820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01W-1244-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	06d67c16-1bb7-4454-a190-9e19549a1150	g.chr3:10183820delC	ENST00000256474.2	+	1	1129	c.289delC	c.(289-291)cccfs	p.P97fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.P97fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	97			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P95_P99del(1)|p.E94fs*62(1)|p.E94fs*34(1)|p.Q96fs*34(1)|p.Q96fs*62(1)|p.P95fs*59(1)|p.Q96fs*61(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGAGCCGCAGCCCTACCCAAC	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Deletion - Frameshift(6)|Deletion - In frame(1)	kidney(7)											13	15	14					3																	10183820		1775	3680	5455	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.289delC	3.37:g.10183820delC	ENSP00000256474:p.Pro97fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183820	C	-	10183820	7	5	321	1	0	1	0	1	0	0	0	0	17167	739	26	0	291	0	VHL	3	10183820	Frame_Shift_Del	DEL	C	TCGA-BP-4167-01A-02D-1386-10		10183820	187838610	7	18858											
HACL1	26061	broad.mit.edu;ucsc.edu	37	3	15609989	15609989	+	Silent	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr3:15609989A>G	ENST00000321169.5	-	13	1567	c.1200T>C	c.(1198-1200)aaT>aaC	p.N400N	HACL1_ENST00000435217.2_Silent_p.N159N|HACL1_ENST00000457447.2_Silent_p.N340N|HACL1_ENST00000451445.2_Silent_p.N318N|HACL1_ENST00000456194.2_Silent_p.N373N	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	400					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)	p.N400N(1)		NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TGTCCATAGTATTTGCTCCTT	0.373																																																1	Substitution - coding silent(1)	kidney(1)											204	178	187					3																	15609989		2203	4300	6503	SO:0001819	synonymous_variant	26061			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"2-hydroxyphytanoyl-CoA lyase"	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.1200T>C	3.37:g.15609989A>G			B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Silent	SNP	ENST00000321169.5	37	CCDS2627.1																																																																																				0.373	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		G	15609989	A	G	15609989	2	3	321	1	0	0	0	0	0	0	0	1	6943	446	16	3		3	HACL1	3	15609989	Silent	SNP	A	TCGA-BP-4167-01A-02D-1386-10	5426169	15609989	182412441	8	18859											
ZNF621	285268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	40574134	40574134	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr3:40574134T>A	ENST00000339296.5	+	5	1325	c.873T>A	c.(871-873)taT>taA	p.Y291*	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Nonsense_Mutation_p.Y180*|ZNF621_ENST00000403205.2_Nonsense_Mutation_p.Y291*|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y291*(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AGAAACCTTATCAATGTAAGG	0.428																																																1	Substitution - Nonsense(1)	kidney(1)											64	70	68					3																	40574134		2203	4300	6503	SO:0001587	stop_gained	285268			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"Zinc fingers, C2H2-type", "-"	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.873T>A	3.37:g.40574134T>A	ENSP00000340841:p.Tyr291*		Q14DC7|Q8TE91	Nonsense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	t	35	5.535177	0.96460	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	.	.	.	3.75	2.88	0.33553	.	.	.	.	.	.	.	.	.	.	.	0.25230	N	0.989834	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3065	0.21141	0.0:0.7779:0.0:0.2221	.	.	.	.	X	291;291;180	.	ENSP00000340841:Y291X	Y	+	3	2	ZNF621	40549138	0.000000	0.05858	0.835000	0.33067	0.284000	0.27059	-0.429000	0.06982	1.168000	0.42723	-0.147000	0.13772	TAT		0.428	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		A	40574134	T	A	40574134	4	1	321	1	0	0	0	0	0	1	0	0	18050	1442	50	5	887	5	ZNF621	3	40574134	Nonsense_Mutation	SNP	T	TCGA-BP-4167-01A-02D-1386-10	24964145	40574134	157448296	9	18860											
OSBPL11	114885	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	125286405	125286405	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr3:125286405A>C	ENST00000296220.5	-	6	990	c.701T>G	c.(700-702)tTa>tGa	p.L234*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	234					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.L234*(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TCGTCTAATTAAGTCTCTTTG	0.403																																																1	Substitution - Nonsense(1)	kidney(1)											174	153	160					3																	125286405		2203	4300	6503	SO:0001587	stop_gained	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.701T>G	3.37:g.125286405A>C	ENSP00000296220:p.Leu234*		A8K9I7	Nonsense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	A	39	7.727721	0.98456	.	.	ENSG00000144909	ENST00000296220	.	.	.	4.68	4.68	0.58851	.	0.319329	0.24172	N	0.040891	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6419	14.3245	0.66509	1.0:0.0:0.0:0.0	.	.	.	.	X	234	.	ENSP00000296220:L234X	L	-	2	0	OSBPL11	126769095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.608000	0.90895	1.957000	0.56846	0.533000	0.62120	TTA		0.403	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		C	125286405	A	C	125286405	4	2	321	1	0	0	0	0	0	1	0	0	11278	372	13	5	1574	5	OSBPL11	3	125286405	Nonsense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	84712271	125286405	72736025	10	18861											
DZIP1L	199221	broad.mit.edu;ucsc.edu	37	3	137813771	137813771	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr3:137813771G>T	ENST00000327532.2	-	4	1003	c.641C>A	c.(640-642)gCc>gAc	p.A214D	DZIP1L_ENST00000488595.1_5'Flank|DZIP1L_ENST00000469243.1_Missense_Mutation_p.A214D	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	214					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.A214D(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTTTAGCTTGGCCCGTAGCTC	0.552																																																1	Substitution - Missense(1)	kidney(1)											205	185	192					3																	137813771		2203	4300	6503	SO:0001583	missense	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.641C>A	3.37:g.137813771G>T	ENSP00000332148:p.Ala214Asp		C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098358	0.37048	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.62232	0.04;0.04	4.85	3.95	0.45737	.	0.328393	0.24289	N	0.039840	T	0.66645	0.2810	M	0.67953	2.075	0.29321	N	0.86734	P;D	0.55800	0.926;0.973	P;P	0.49085	0.6;0.593	T	0.66901	-0.5806	10	0.56958	D	0.05	-10.4563	13.1213	0.59327	0.0:0.0:0.8387:0.1613	.	214;214	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	D	214	ENSP00000332148:A214D;ENSP00000419486:A214D	ENSP00000332148:A214D	A	-	2	0	DZIP1L	139296461	0.995000	0.38212	0.979000	0.43373	0.357000	0.29423	1.838000	0.39211	1.198000	0.43158	0.563000	0.77884	GCC		0.552	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		T	137813771	G	T	137813771	3	4	321	1	0	0	0	0	1	0	0	0	4866	1203	42	4	1723	4	DZIP1L	3	137813771	Missense_Mutation	SNP	G	TCGA-BP-4167-01A-02D-1386-10	12527366	137813771	60208659	11	18862											
MEGF10	84466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	126778709	126778709	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr5:126778709T>G	ENST00000274473.6	+	20	2649	c.2382T>G	c.(2380-2382)taT>taG	p.Y794*	MEGF10_ENST00000503335.2_Nonsense_Mutation_p.Y794*	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	794	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.Y794*(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGGAACATATGGCTATGGCT	0.517																																																1	Substitution - Nonsense(1)	kidney(1)											70	69	70					5																	126778709		2203	4300	6503	SO:0001587	stop_gained	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2382T>G	5.37:g.126778709T>G	ENSP00000274473:p.Tyr794*		Q68DE5|Q8WUL3	Nonsense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	T	39	7.552123	0.98355	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	.	.	.	5.63	1.96	0.26148	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.1887	9.0203	0.36195	0.0:0.2138:0.0:0.7862	.	.	.	.	X	794	.	ENSP00000274473:Y794X	Y	+	3	2	MEGF10	126806608	0.964000	0.33143	0.996000	0.52242	0.443000	0.32047	0.068000	0.14531	0.167000	0.19631	-0.371000	0.07208	TAT		0.517	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		G	126778709	T	G	126778709	4	3	321	1	0	0	0	0	0	1	0	0	9462	1471	51	5	2452	5	MEGF10	5	126778709	Nonsense_Mutation	SNP	T	TCGA-BP-4167-01A-02D-1386-10		126778709	54136551	12	18863											
ANKHD1	54882	broad.mit.edu;ucsc.edu	37	5	139876772	139876772	+	Silent	SNP	T	T	C			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr5:139876772T>C	ENST00000360839.2	+	15	3067	c.2913T>C	c.(2911-2913)caT>caC	p.H971H	ANKHD1_ENST00000297183.6_Silent_p.H971H|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.H971H|ANKHD1_ENST00000462121.1_3'UTR	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	971						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.H971H(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTGGACATGATCAGGGGC	0.448																																																2	Substitution - coding silent(2)	kidney(2)											113	112	113					5																	139876772		2203	4300	6503	SO:0001819	synonymous_variant	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2913T>C	5.37:g.139876772T>C			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	CCDS4225.1																																																																																				0.448	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		C	139876772	T	C	139876772	2	2	321	1	0	0	0	0	0	0	0	1	628	1461	51	3		3	ANKHD1	5	139876772	Silent	SNP	T	TCGA-BP-4167-01A-02D-1386-10	13098063	139876772	41038488	13	18864											
PCDHA5	56143	broad.mit.edu	37	5	140202962	140202962	+	Silent	SNP	G	G	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr5:140202962G>A	ENST00000529859.1	+	1	1602	c.1602G>A	c.(1600-1602)gtG>gtA	p.V534V	PCDHA5_ENST00000529619.1_Silent_p.V534V|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.V534V	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V534V(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTCCAGGTGAGCGCGCGCG	0.687																																																2	Substitution - coding silent(2)	kidney(2)											46	53	51					5																	140202962		2203	4298	6501	SO:0001819	synonymous_variant	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1602G>A	5.37:g.140202962G>A			O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	CCDS54917.1																																																																																				0.687	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140202962	G	A	140202962	2	1	321	1	0	0	0	0	0	0	0	1	11529	1277	45	2		2	PCDHA5	5	140202962	Silent	SNP	G	TCGA-BP-4167-01A-02D-1386-10	326190	140202962	40712298	14	18865											
TCF19	6941	broad.mit.edu	37	6	31127384	31127384	+	Silent	SNP	C	C	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr6:31127384C>T	ENST00000376257.3	+	2	892	c.138C>T	c.(136-138)ccC>ccT	p.P46P	CCHCR1_ENST00000480060.1_5'Flank|CCHCR1_ENST00000396263.2_5'Flank|CCHCR1_ENST00000451521.2_5'Flank|TCF19_ENST00000376255.4_Silent_p.P46P|CCHCR1_ENST00000376266.5_5'Flank|CCHCR1_ENST00000396268.3_5'Flank	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	46	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P46P(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCCTGCGGCCCCAGCAGGAGC	0.682																																																1	Substitution - coding silent(1)	kidney(1)											24	27	26					6																	31127384		1945	4130	6075	SO:0001819	synonymous_variant	6941			U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"Zinc fingers, PHD-type"	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.138C>T	6.37:g.31127384C>T			A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Silent	SNP	ENST00000376257.3	37	CCDS43446.1																																																																																				0.682	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		T	31127384	C	T	31127384	2	4	321	1	0	0	0	0	0	0	0	1	15694	610	22	2		2	TCF19	6	31127384	Silent	SNP	C	TCGA-BP-4167-01A-02D-1386-10		31127384	139987683	15	18866											
FILIP1	27145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	76022977	76022977	+	Silent	SNP	A	A	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr6:76022977A>T	ENST00000237172.7	-	5	2901	c.2571T>A	c.(2569-2571)ccT>ccA	p.P857P	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Silent_p.P857P|FILIP1_ENST00000370020.1_Silent_p.P758P	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	857								p.P857P(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGCTGCTGGAGGATACCTGT	0.463																																																1	Substitution - coding silent(1)	kidney(1)											102	111	107					6																	76022977		2203	4300	6503	SO:0001819	synonymous_variant	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2571T>A	6.37:g.76022977A>T			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	CCDS4984.1																																																																																				0.463	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		T	76022977	A	T	76022977	2	4	321	1	0	0	0	0	0	0	0	1	5896	291	11	5		5	FILIP1	6	76022977	Silent	SNP	A	TCGA-BP-4167-01A-02D-1386-10	44895593	76022977	95092090	16	18867											
PPIL4	85313	broad.mit.edu	37	6	149855820	149855820	+	Silent	SNP	T	T	C			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr6:149855820T>C	ENST00000253329.2	-	6	587	c.555A>G	c.(553-555)caA>caG	p.Q185Q		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	185					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.Q185Q(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TTACATCTAATTGTTCCCTTG	0.303																																																1	Substitution - coding silent(1)	kidney(1)											101	101	101					6																	149855820		2203	4298	6501	SO:0001819	synonymous_variant	85313				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.555A>G	6.37:g.149855820T>C			B2RD34|Q7Z3Q5	Silent	SNP	ENST00000253329.2	37	CCDS34550.1																																																																																				0.303	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			C	149855820	T	C	149855820	2	2	321	1	0	0	0	0	0	0	0	1	12334	1490	52	3		3	PPIL4	6	149855820	Silent	SNP	T	TCGA-BP-4167-01A-02D-1386-10	73832843	149855820	21259247	17	18868											
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152443659	152443659	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr6:152443659T>A	ENST00000367255.5	-	146	26907	c.26306A>T	c.(26305-26307)gAg>gTg	p.E8769V	SYNE1_ENST00000423061.1_Missense_Mutation_p.E8721V|SYNE1_ENST00000341594.5_Missense_Mutation_p.E8381V|SYNE1_ENST00000539504.1_Missense_Mutation_p.E924V|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8769V|SYNE1_ENST00000354674.4_Missense_Mutation_p.E947V|SYNE1_ENST00000356820.4_Missense_Mutation_p.E3293V|SYNE1_ENST00000347037.5_5'UTR|ESR1_ENST00000427531.2_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8721V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8769	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E8769V(2)|p.E8721V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAGTCTTCCTCTGACATTGG	0.572										HNSCC(10;0.0054)																																						3	Substitution - Missense(3)	kidney(3)											109	94	99					6																	152443659		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.26306A>T	6.37:g.152443659T>A	ENSP00000356224:p.Glu8769Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	29.1	4.979254	0.92982	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000354674	T;T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8	5.56	5.56	0.83823	Klarsicht/ANC-1/syne-1 homology (2);	0.000000	0.49916	D	0.000130	T	0.50888	0.1642	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.62435	-0.6855	10	0.87932	D	0	.	15.7131	0.77646	0.0:0.0:0.0:1.0	.	8769;8769;8721	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	V	8769;924;8721;8769;8721;8381;3293;954;949;947	ENSP00000356224:E8769V;ENSP00000441052:E924V;ENSP00000396024:E8721V;ENSP00000265368:E8769V;ENSP00000390975:E8721V;ENSP00000341887:E8381V;ENSP00000349276:E3293V;ENSP00000346701:E947V	ENSP00000265368:E8769V	E	-	2	0	SYNE1	152485352	1.000000	0.71417	0.959000	0.39883	0.973000	0.67179	6.201000	0.72124	2.114000	0.64651	0.533000	0.62120	GAG		0.572	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152443659	T	A	152443659	3	1	321	1	0	0	0	0	1	0	0	0	15450	1551	54	5	91	5	SYNE1	6	152443659	Missense_Mutation	SNP	T	TCGA-BP-4167-01A-02D-1386-10	2587839	152443659	18671408	18	18869											
INTS1	26173	broad.mit.edu	37	7	1538900	1538900	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr7:1538900A>G	ENST00000404767.3	-	7	1026	c.941T>C	c.(940-942)cTc>cCc	p.L314P	INTS1_ENST00000389470.4_Missense_Mutation_p.L442P|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	314					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.L442P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCTGGGCATGAGCTGGCCCTC	0.721																																																1	Substitution - Missense(1)	kidney(1)											53	62	59					7																	1538900		2049	4184	6233	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.941T>C	7.37:g.1538900A>G	ENSP00000385722:p.Leu314Pro		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810741	0.70797	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.49720	0.78;0.77	5.15	5.15	0.70609	.	0.275731	0.36444	N	0.002595	T	0.41971	0.1182	N	0.22421	0.69	0.80722	D	1	D;B	0.54397	0.966;0.016	P;B	0.47299	0.543;0.009	T	0.44667	-0.9313	10	0.62326	D	0.03	.	14.9513	0.71077	1.0:0.0:0.0:0.0	.	442;314	A4D212;Q8N201	.;INT1_HUMAN	P	314;442	ENSP00000385722:L314P;ENSP00000374121:L442P	ENSP00000374121:L442P	L	-	2	0	INTS1	1505426	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.865000	0.62998	1.927000	0.55829	0.460000	0.39030	CTC		0.721	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			G	1538900	A	G	1538900	3	3	321	1	0	0	0	0	1	0	0	0	7777	304	11	3	5799	3	INTS1	7	1538900	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10		1538900	157599763	19	18870											
DGKB	1607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	14378224	14378224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr7:14378224G>A	ENST00000403951.2	-	23	2460	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	DGKB_ENST00000407950.1_Nonsense_Mutation_p.R673*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R662*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.R680*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R681*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	681					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R681*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CGATGGCTTCGTCTTTTCTTA	0.398																																																2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)											173	157	162					7																	14378224		1861	4099	5960	SO:0001587	stop_gained	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2041C>T	7.37:g.14378224G>A	ENSP00000385780:p.Arg681*		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Nonsense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	40	8.316506	0.98757	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	.	.	.	5.5	-0.408	0.12381	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4311	0.87539	0.0:0.0:0.2508:0.7492	.	.	.	.	X	681;681;681;680;673;662;681	.	ENSP00000258767:R681X	R	-	1	2	DGKB	14344749	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	0.877000	0.28106	-0.425000	0.07371	0.650000	0.86243	CGA		0.398	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		A	14378224	G	A	14378224	4	1	321	1	0	0	0	0	0	1	0	0	4468	1153	40	1	404	1	DGKB	7	14378224	Nonsense_Mutation	SNP	G	TCGA-BP-4167-01A-02D-1386-10	12839324	14378224	144760439	20	18871											
C7orf51	222950	broad.mit.edu;hgsc.bcm.edu	37	7	100088627	100088627	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr7:100088627G>A	ENST00000300179.2	+	6	2336	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	NYAP1_ENST00000454988.1_Missense_Mutation_p.R670H|NYAP1_ENST00000496985.1_3'UTR|NYAP1_ENST00000423930.1_Missense_Mutation_p.R727H	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	726					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R726H(1)									GGAGGCTACCGCCTGGGGCGC	0.677																																																1	Substitution - Missense(1)	kidney(1)											19	17	18					7																	100088627		2152	4230	6382	SO:0001583	missense	0			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.2177G>A	7.37:g.100088627G>A	ENSP00000300179:p.Arg726His		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082683	0.76528	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.38401	1.14;1.14;1.14	5.08	5.08	0.68730	.	0.000000	0.48286	D	0.000196	T	0.47229	0.1434	L	0.32530	0.975	0.44685	D	0.99767	D;D	0.76494	0.999;0.999	P;P	0.62435	0.818;0.902	T	0.46638	-0.9177	10	0.66056	D	0.02	-21.8013	16.3146	0.82913	0.0:0.0:1.0:0.0	.	670;726	C9JS30;Q6ZVC0	.;CG051_HUMAN	H	726;727;670	ENSP00000300179:R726H;ENSP00000411861:R727H;ENSP00000394424:R670H	ENSP00000300179:R726H	R	+	2	0	C7orf51	99926563	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.683000	0.54663	2.530000	0.85305	0.313000	0.20887	CGC		0.677	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		A	100088627	G	A	100088627	3	1	321	1	0	0	0	0	1	0	0	0	2402	1087	38	1	2195	1	C7orf51	7	100088627	Missense_Mutation	SNP	G	TCGA-BP-4167-01A-02D-1386-10	85710403	100088627	59050036	21	18872											
ASZ1	136991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117025841	117025841	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr7:117025841A>G	ENST00000284629.2	-	5	525	c.463T>C	c.(463-465)Tat>Cat	p.Y155H		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.Y155H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGAGCAGCATACATGATTGGG	0.413																																																1	Substitution - Missense(1)	kidney(1)											102	99	100					7																	117025841		2203	4300	6503	SO:0001583	missense	136991			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.463T>C	7.37:g.117025841A>G	ENSP00000284629:p.Tyr155His			Missense_Mutation	SNP	ENST00000284629.2	37	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.393950	0.83011	.	.	ENSG00000154438	ENST00000284629	T	0.65364	-0.15	5.91	5.91	0.95273	Ankyrin repeat-containing domain (4);	0.226724	0.41823	D	0.000802	T	0.71517	0.3349	L	0.37750	1.13	0.47994	D	0.999569	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72554	-0.4258	10	0.51188	T	0.08	-2.0813	15.3295	0.74196	1.0:0.0:0.0:0.0	.	155;155	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	H	155	ENSP00000284629:Y155H	ENSP00000284629:Y155H	Y	-	1	0	ASZ1	116813077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.715000	0.74697	2.263000	0.75096	0.528000	0.53228	TAT		0.413	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		G	117025841	A	G	117025841	3	3	321	1	0	0	0	0	1	0	0	0	1069	391	14	3	1000	3	ASZ1	7	117025841	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	16937214	117025841	42112822	22	18873											
MYST3	7994	broad.mit.edu;ucsc.edu	37	8	41791800	41791800	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr8:41791800T>C	ENST00000396930.3	-	18	4481	c.3938A>G	c.(3937-3939)gAc>gGc	p.D1313G	KAT6A_ENST00000265713.2_Missense_Mutation_p.D1313G|KAT6A_ENST00000406337.1_Missense_Mutation_p.D1313G	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1313					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D1313G(1)									AGCGTCGTGGTCGTCATTCTG	0.562																																																1	Substitution - Missense(1)	kidney(1)											200	174	183					8																	41791800		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3938A>G	8.37:g.41791800T>C	ENSP00000380136:p.Asp1313Gly		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	7.033	0.561044	0.13498	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.67865	-0.29;-0.29;-0.29	5.87	5.87	0.94306	.	0.063252	0.64402	D	0.000005	T	0.53384	0.1793	L	0.32530	0.975	0.47621	D	0.999477	P	0.36282	0.546	B	0.32980	0.156	T	0.52646	-0.8548	10	0.10902	T	0.67	-18.1588	16.2674	0.82597	0.0:0.0:0.0:1.0	.	1313	Q92794	KAT6A_HUMAN	G	1313	ENSP00000265713:D1313G;ENSP00000385888:D1313G;ENSP00000380136:D1313G	ENSP00000265713:D1313G	D	-	2	0	KAT6A	41910957	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	7.462000	0.80851	2.242000	0.73789	0.533000	0.62120	GAC		0.562	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		C	41791800	T	C	41791800	3	2	321	1	0	0	0	0	1	0	0	0	10106	1667	58	3	2080	3	MYST3	8	41791800	Missense_Mutation	SNP	T	TCGA-BP-4167-01A-02D-1386-10		41791800	104572222	23	18874											
KRTAP5-4	387267	broad.mit.edu;hgsc.bcm.edu	37	11	1643255	1643255	+	Silent	SNP	G	G	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr11:1643255G>A	ENST00000399682.1	-	1	113	c.69C>T	c.(67-69)ggC>ggT	p.G23G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)		p.G23G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cagagccacagcccccacagc	0.687																																																1	Substitution - coding silent(1)	kidney(1)											4	8	7					11																	1643255		646	1526	2172	SO:0001819	synonymous_variant	387267			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.69C>T	11.37:g.1643255G>A				Silent	SNP	ENST00000399682.1	37																																																																																					0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		A	1643255	G	A	1643255	2	1	321	1	0	0	0	0	0	0	0	1	8565	958	34	2		2	KRTAP5-4	11	1643255	Silent	SNP	G	TCGA-BP-4167-01A-02D-1386-10		1643255	133363261	24	18875											
INSC	387755	hgsc.bcm.edu	37	11	15243190	15243190	+	Silent	SNP	C	C	T	rs61742947	byFrequency	TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr11:15243190C>T	ENST00000379554.3	+	8	1174	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	INSC_ENST00000525218.1_Silent_p.L287L|INSC_ENST00000530161.1_Silent_p.L329L|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Silent_p.L287L|INSC_ENST00000528567.1_Silent_p.L329L|INSC_ENST00000379556.3_Silent_p.L329L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	376					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGACAGCCCTCGTCAGTGAGT	0.612													c|||	463	0.0924521	0.2073	0.0735	5008	,	,		17406	0.0585		0.0308	False		,,,				2504	0.0491															0								T	,	710,3424		64,582,1421	29	33	32		1128,987	-1.8	0	11	dbSNP_129	32	259,8129		4,251,3939	no	coding-synonymous,coding-synonymous	INSC	NM_001031853.3,NM_001042536.1	,	68,833,5360	TT,TC,CC		3.0877,17.1746,7.7384	,	376/580,329/533	15243190	969,11553	2067	4194	6261	SO:0001819	synonymous_variant	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1128C>T	11.37:g.15243190C>T			A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	CCDS41621.1																																																																																				0.612	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		T	15243190	C	T	15243190	2	4	321	1	0	0	0	0	0	0	0	1	7766	871	31	1		1	INSC	11	15243190	Silent	SNP	C	TCGA-BP-4167-01A-02D-1386-10	13599935	15243190	119763326	25	18876											
ANO3	63982	broad.mit.edu;hgsc.bcm.edu	37	11	26465333	26465333	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr11:26465333A>G	ENST00000256737.3	+	3	1115	c.263A>G	c.(262-264)aAc>aGc	p.N88S	ANO3_ENST00000525139.1_Missense_Mutation_p.N72S|ANO3_ENST00000537978.1_Missense_Mutation_p.N72S|ANO3_ENST00000531646.1_Missense_Mutation_p.N88S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	88					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.N88S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GAGAATAAAAACGACTCTGTG	0.343																																																1	Substitution - Missense(1)	kidney(1)											114	112	113					11																	26465333		2203	4300	6503	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.263A>G	11.37:g.26465333A>G	ENSP00000256737:p.Asn88Ser		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	A	1.419	-0.573399	0.03882	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	4.72	2.27	0.28462	.	0.498586	0.20078	N	0.099708	T	0.33962	0.0881	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26503	-1.0101	10	0.02654	T	1	.	5.6341	0.17526	0.6517:0.1779:0.0:0.1704	.	88	Q9BYT9	ANO3_HUMAN	S	72;72;88;88	ENSP00000440737:N72S;ENSP00000432576:N72S;ENSP00000256737:N88S;ENSP00000435275:N88S	ENSP00000256737:N88S	N	+	2	0	ANO3	26421909	0.754000	0.28360	0.035000	0.18076	0.006000	0.05464	4.403000	0.59729	0.330000	0.23485	-0.438000	0.05819	AAC		0.343	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		G	26465333	A	G	26465333	3	3	321	1	0	0	0	0	1	0	0	0	698	43	2	3	273	3	ANO3	11	26465333	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	11222143	26465333	108541183	26	18877											
RAG2	5897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	36614945	36614945	+	Silent	SNP	G	G	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr11:36614945G>A	ENST00000311485.3	-	2	935	c.774C>T	c.(772-774)gtC>gtT	p.V258V	C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000534635.1_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	258					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.V258V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGCACTGGAGACAGAGATTC	0.433									Familial Hemophagocytic Lymphohistiocytosis																																							1	Substitution - coding silent(1)	kidney(1)											65	66	66					11																	36614945		2202	4298	6500	SO:0001819	synonymous_variant	5897	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.774C>T	11.37:g.36614945G>A			A8K9E9|Q8TBL4	Silent	SNP	ENST00000311485.3	37	CCDS7903.1																																																																																				0.433	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		A	36614945	G	A	36614945	2	1	321	1	0	0	0	0	0	0	0	1	13011	929	33	2		2	RAG2	11	36614945	Silent	SNP	G	TCGA-BP-4167-01A-02D-1386-10	10149612	36614945	98391571	27	18878											
OR5AP2	338675	broad.mit.edu;ucsc.edu	37	11	56409234	56409234	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr11:56409234A>G	ENST00000302981.1	-	1	681	c.682T>C	c.(682-684)Ttc>Ctc	p.F228L	OR5AP2_ENST00000544374.1_Missense_Mutation_p.F229L	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F228L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						ACGGCAATGAAGATACACAGG	0.443																																																1	Substitution - Missense(1)	kidney(1)											180	167	171					11																	56409234		2201	4296	6497	SO:0001583	missense	338675			AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.682T>C	11.37:g.56409234A>G	ENSP00000303111:p.Phe228Leu		B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	A	1.435	-0.569271	0.03910	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00058	8.79;8.79	5.09	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.318367	0.22837	N	0.055026	T	0.00039	0.0001	N	0.00885	-1.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19712	-1.0297	10	0.02654	T	1	.	8.4892	0.33089	0.0801:0.2918:0.6281:0.0	.	228	Q8NGF4	O5AP2_HUMAN	L	229;228	ENSP00000442701:F229L;ENSP00000303111:F228L	ENSP00000303111:F228L	F	-	1	0	OR5AP2	56165810	0.054000	0.20591	1.000000	0.80357	0.989000	0.77384	0.189000	0.17037	0.710000	0.31997	-0.261000	0.10672	TTC		0.443	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		G	56409234	A	G	56409234	3	3	321	1	0	0	0	0	1	0	0	0	11146	72	3	3	272	3	OR5AP2	11	56409234	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	19794289	56409234	78597282	28	18879											
WDR74	54663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62606659	62606659	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr11:62606659C>T	ENST00000525239.1	-	4	757	c.220G>A	c.(220-222)Gat>Aat	p.D74N	RNU2-2P_ENST00000410396.1_RNA|WDR74_ENST00000311713.7_Missense_Mutation_p.D74N|WDR74_ENST00000278856.4_Missense_Mutation_p.D74N|WDR74_ENST00000529106.1_Missense_Mutation_p.D74N|WDR74_ENST00000525752.1_Missense_Mutation_p.D17N|WDR74_ENST00000540620.1_5'UTR			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	74					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D74N(2)		kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						AATATGCCATCCTCGGTGCTG	0.647																																																2	Substitution - Missense(2)	kidney(2)											43	48	47					11																	62606659		2081	4206	6287	SO:0001583	missense	54663				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.220G>A	11.37:g.62606659C>T	ENSP00000432119:p.Asp74Asn		A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	CCDS44630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.40|13.40	2.224665|2.224665	0.39300|0.39300	.|.	.|.	ENSG00000133316|ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752|ENST00000535048	T;T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59;1.59|.	4.7|4.7	2.81|2.81	0.32909|0.32909	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.185860|.	0.46145|.	D|.	0.000312|.	T|T	0.15912|0.15912	0.0383|0.0383	N|N	0.04880|0.04880	-0.145|-0.145	0.24350|0.24350	N|N	0.994927|0.994927	B;B;B;B|.	0.16166|.	0.016;0.0;0.0;0.001|.	B;B;B;B|.	0.06405|.	0.002;0.001;0.001;0.001|.	T|T	0.22173|0.22173	-1.0224|-1.0224	10|5	0.18276|.	T|.	0.48|.	-7.7522|-7.7522	5.7151|5.7151	0.17956|0.17956	0.0:0.6858:0.0:0.3142|0.0:0.6858:0.0:0.3142	.|.	74;17;74;74|.	B4E018;E9PS41;Q6RFH5;Q6RFH5-2|.	.;.;WDR74_HUMAN;.|.	N|E	74;74;74;74;17|65	ENSP00000308931:D74N;ENSP00000435726:D74N;ENSP00000432119:D74N;ENSP00000278856:D74N;ENSP00000432113:D17N|.	ENSP00000278856:D74N|.	D|G	-|-	1|2	0|0	WDR74|WDR74	62363235|62363235	1.000000|1.000000	0.71417|0.71417	0.541000|0.541000	0.28102|0.28102	0.269000|0.269000	0.26545|0.26545	2.739000|2.739000	0.47409|0.47409	0.960000|0.960000	0.38005|0.38005	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.647	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		T	62606659	C	T	62606659	3	4	321	1	0	0	0	0	1	0	0	0	17329	855	30	2	973	2	WDR74	11	62606659	Missense_Mutation	SNP	C	TCGA-BP-4167-01A-02D-1386-10	6197425	62606659	72399857	29	18880											
PRB1	5542	broad.mit.edu	37	12	11506356	11506356	+	Intron	SNP	G	G	A	rs201055825	byFrequency	TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr12:11506356G>A	ENST00000500254.2	-	4	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGCTGGTTGCCTCCTTGTG	0.607																																																0													69	68	68					12																	11506356		1929	4083	6012	SO:0001627	intron_variant	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.314-32C>T	12.37:g.11506356G>A			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		A	11506356	G	A	11506356	1	1	321	0	1	0	0	0	0	0	0	0	12447	1306	46	2		2	PRB1	12	11506356	Intron	SNP	G	TCGA-BP-4167-01A-02D-1386-10		11506356	122345539	30	18881											
C12orf60	144608	broad.mit.edu;ucsc.edu	37	12	14976216	14976216	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr12:14976216A>G	ENST00000330828.2	+	2	551	c.347A>G	c.(346-348)aAa>aGa	p.K116R	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	116								p.K116R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GAAGTATTCAAAAGTGCCCAT	0.438																																																1	Substitution - Missense(1)	kidney(1)											154	152	153					12																	14976216		2203	4300	6503	SO:0001583	missense	144608			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.347A>G	12.37:g.14976216A>G	ENSP00000331691:p.Lys116Arg		A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467134	0.43839	.	.	ENSG00000182993	ENST00000330828	T	0.16457	2.34	4.62	0.575	0.17374	.	0.289567	0.25068	N	0.033392	T	0.07593	0.0191	N	0.24115	0.695	0.09310	N	1	B	0.16802	0.019	B	0.16289	0.015	T	0.38693	-0.9649	10	0.08179	T	0.78	-0.2006	4.2945	0.10895	0.6401:0.1713:0.1886:0.0	.	116	Q5U649	CL060_HUMAN	R	116	ENSP00000331691:K116R	ENSP00000331691:K116R	K	+	2	0	C12orf60	14867483	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.485000	0.06520	0.010000	0.14839	0.459000	0.35465	AAA		0.438	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		G	14976216	A	G	14976216	3	3	321	1	0	0	0	0	1	0	0	0	1705	14	1	3	349	3	C12orf60	12	14976216	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	3469860	14976216	118875679	31	18882											
ERP27	121506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	15091412	15091412	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr12:15091412G>T	ENST00000266397.2	-	1	604	c.31C>A	c.(31-33)Ctc>Atc	p.L11I		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	11						endoplasmic reticulum (GO:0005783)		p.L11I(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						AGAAATAAGAGGAACATGAAC	0.517																																																1	Substitution - Missense(1)	kidney(1)											70	64	66					12																	15091412		2203	4300	6503	SO:0001583	missense	121506			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"Protein disulfide isomerases"	26495	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 8"	610642	"chromosome 12 open reading frame 46", "endoplasmic reticulum protein 27 kDa"	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.31C>A	12.37:g.15091412G>T	ENSP00000266397:p.Leu11Ile			Missense_Mutation	SNP	ENST00000266397.2	37	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	G	9.376	1.071706	0.20147	.	.	ENSG00000139055	ENST00000266397	T	0.32023	1.47	5.54	1.29	0.21616	.	0.375021	0.23955	N	0.042915	T	0.25232	0.0613	L	0.56769	1.78	0.20489	N	0.999895	B	0.17268	0.021	B	0.15870	0.014	T	0.17868	-1.0355	10	0.40728	T	0.16	-5.1536	6.0467	0.19764	0.0751:0.2413:0.5601:0.1235	.	11	Q96DN0	ERP27_HUMAN	I	11	ENSP00000266397:L11I	ENSP00000266397:L11I	L	-	1	0	ERP27	14982679	0.016000	0.18221	0.001000	0.08648	0.002000	0.02628	0.465000	0.22004	0.118000	0.18165	-0.797000	0.03246	CTC		0.517	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		T	15091412	G	T	15091412	3	4	321	1	0	0	0	0	1	0	0	0	5243	1000	35	4	818	4	ERP27	12	15091412	Missense_Mutation	SNP	G	TCGA-BP-4167-01A-02D-1386-10	115196	15091412	118760483	32	18883											
TMTC3	160418	broad.mit.edu;hgsc.bcm.edu	37	12	88589406	88589406	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr12:88589406C>T	ENST00000266712.6	+	14	2945	c.2725C>T	c.(2725-2727)Cgt>Tgt	p.R909C		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	910					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.R909C(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGAGATTGAACGTATTTTAAA	0.323																																																1	Substitution - Missense(1)	kidney(1)											47	48	47					12																	88589406		2202	4296	6498	SO:0001583	missense	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2725C>T	12.37:g.88589406C>T	ENSP00000266712:p.Arg909Cys		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475751	0.84640	.	.	ENSG00000139324	ENST00000266712	T	0.70399	-0.48	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80320	-0.1432	10	0.87932	D	0	-11.4981	19.5526	0.95328	0.0:1.0:0.0:0.0	.	909	Q6ZXV5-2	.	C	909	ENSP00000266712:R909C	ENSP00000266712:R909C	R	+	1	0	TMTC3	87113537	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.189000	0.77747	2.705000	0.92388	0.585000	0.79938	CGT		0.323	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		T	88589406	C	T	88589406	3	4	321	1	0	0	0	0	1	0	0	0	16267	536	19	1	2775	1	TMTC3	12	88589406	Missense_Mutation	SNP	C	TCGA-BP-4167-01A-02D-1386-10	73497994	88589406	45262489	33	18884											
HIP1R	9026	broad.mit.edu	37	12	123343650	123343650	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr12:123343650A>G	ENST00000253083.4	+	22	2326	c.2201A>G	c.(2200-2202)gAg>gGg	p.E734G		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	734					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)	p.E734G(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CGGGCTCTGGAGCTCATGGGG	0.682																																																1	Substitution - Missense(1)	kidney(1)											10	12	11					12																	123343650		2186	4281	6467	SO:0001583	missense	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2201A>G	12.37:g.123343650A>G	ENSP00000253083:p.Glu734Gly		A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.179560	0.38511	.	.	ENSG00000130787	ENST00000253083	T	0.14766	2.48	5.15	3.96	0.45880	.	0.286331	0.40554	N	0.001064	T	0.13543	0.0328	L	0.57536	1.79	0.32256	N	0.570789	B	0.10296	0.003	B	0.14578	0.011	T	0.09250	-1.0683	10	0.28530	T	0.3	-29.7105	7.9975	0.30277	0.8182:0.0:0.0:0.1818	.	734	O75146	HIP1R_HUMAN	G	734	ENSP00000253083:E734G	ENSP00000253083:E734G	E	+	2	0	HIP1R	121909603	0.992000	0.36948	1.000000	0.80357	0.862000	0.49288	1.998000	0.40796	0.760000	0.33108	0.459000	0.35465	GAG		0.682	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		G	123343650	A	G	123343650	3	3	321	1	0	0	0	0	1	0	0	0	7117	304	11	3	2287	3	HIP1R	12	123343650	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	34754244	123343650	10508245	34	18885											
PCK2	5106	broad.mit.edu;ucsc.edu	37	14	24568786	24568786	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr14:24568786C>A	ENST00000216780.4	+	6	1140	c.872C>A	c.(871-873)cCt>cAt	p.P291H	PCK2_ENST00000561286.1_Missense_Mutation_p.P157H|PCK2_ENST00000396973.4_Missense_Mutation_p.P291H|NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_Missense_Mutation_p.P157H|PCK2_ENST00000559250.1_Missense_Mutation_p.P303H|PCK2_ENST00000558096.1_Missense_Mutation_p.P157H	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	291					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)	p.P291H(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		ATCACCAGCCCTGCAGGGAAG	0.587																																																2	Substitution - Missense(2)	kidney(2)											100	94	96					14																	24568786		2203	4300	6503	SO:0001583	missense	5106			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.872C>A	14.37:g.24568786C>A	ENSP00000216780:p.Pro291His		O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716553	0.89205	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.14640	2.49;2.49;2.49	5.74	5.74	0.90152	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	H	0.97023	3.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;0.998	T	0.69587	-0.5105	10	0.87932	D	0	-11.0895	17.4169	0.87503	0.0:1.0:0.0:0.0	.	157;291;291;291	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	H	291;291;157	ENSP00000216780:P291H;ENSP00000380171:P291H;ENSP00000441826:P157H	ENSP00000216780:P291H	P	+	2	0	PCK2	23638626	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	7.487000	0.81328	2.717000	0.92951	0.655000	0.94253	CCT		0.587	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		A	24568786	C	A	24568786	3	1	321	1	0	0	0	0	1	0	0	0	11584	681	24	4	894	4	PCK2	14	24568786	Missense_Mutation	SNP	C	TCGA-BP-4167-01A-02D-1386-10		24568786	82780754	35	18886											
ESR2	2100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64746834	64746834	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr14:64746834C>T	ENST00000341099.4	-	3	817	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	ESR2_ENST00000555278.1_Missense_Mutation_p.A134T|ESR2_ENST00000557772.1_Missense_Mutation_p.A134T|ESR2_ENST00000267525.6_Missense_Mutation_p.A134T|ESR2_ENST00000554572.1_Missense_Mutation_p.A134T|ESR2_ENST00000542956.1_Missense_Mutation_p.A134T|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000358599.5_Missense_Mutation_p.A134T|ESR2_ENST00000357782.2_Missense_Mutation_p.A134T|ESR2_ENST00000553796.1_Missense_Mutation_p.A134T|ESR2_ENST00000353772.3_Missense_Mutation_p.A134T	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	134	Modulating.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A134T(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ACAGGGCTGGCGCAACGGTTC	0.493																																																2	Substitution - Missense(2)	kidney(2)											208	185	192					14																	64746834		2203	4300	6503	SO:0001583	missense	2100			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.400G>A	14.37:g.64746834C>T	ENSP00000343925:p.Ala134Thr		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	1.115	-0.657061	0.03480	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.90385	-2.65;-2.59;-2.58;-2.58;-2.58;-2.66;-2.65;-2.66;-2.65;-2.49;-2.19	5.41	-3.25	0.05079	.	0.975519	0.08421	N	0.948408	T	0.75309	0.3832	N	0.02286	-0.61	0.21675	N	0.999592	B;B;B;B;B	0.22346	0.068;0.001;0.005;0.002;0.001	B;B;B;B;B	0.15870	0.014;0.001;0.003;0.001;0.002	T	0.58375	-0.7647	10	0.24483	T	0.36	.	13.2313	0.59945	0.0:0.3803:0.0:0.6197	.	134;134;134;134;134	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	T	134	ENSP00000452485:A134T;ENSP00000441792:A134T;ENSP00000450699:A134T;ENSP00000335551:A134T;ENSP00000351412:A134T;ENSP00000450488:A134T;ENSP00000452426:A134T;ENSP00000350427:A134T;ENSP00000451582:A134T;ENSP00000343925:A134T;ENSP00000267525:A134T	ENSP00000267525:A134T	A	-	1	0	ESR2	63816587	0.001000	0.12720	0.050000	0.19076	0.001000	0.01503	-0.536000	0.06135	-0.805000	0.04404	-2.049000	0.00408	GCC		0.493	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			T	64746834	C	T	64746834	3	4	321	1	0	0	0	0	1	0	0	0	5259	768	27	1	1306	1	ESR2	14	64746834	Missense_Mutation	SNP	C	TCGA-BP-4167-01A-02D-1386-10	40178048	64746834	42602706	36	18887											
GPHN	10243	broad.mit.edu;hgsc.bcm.edu	37	14	67389564	67389564	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr14:67389564A>G	ENST00000315266.5	+	7	1759	c.638A>G	c.(637-639)gAg>gGg	p.E213G	GPHN_ENST00000459628.1_Missense_Mutation_p.E195G|GPHN_ENST00000543237.1_Missense_Mutation_p.E226G|GPHN_ENST00000478722.1_Missense_Mutation_p.E213G|GPHN_ENST00000305960.9_Missense_Mutation_p.E182G|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	213	Interaction with GABARAP. {ECO:0000250}.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.E213G(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GTTCAATGTGAGGAAGAGGAA	0.478			T	MLL	AL																																		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	1	Substitution - Missense(1)	kidney(1)											129	125	127					14																	67389564		2203	4300	6503	SO:0001583	missense	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.638A>G	14.37:g.67389564A>G	ENSP00000312771:p.Glu213Gly		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.565758	0.86439	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960;ENST00000555456	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	N	0.14661	0.345	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.989;0.998;0.981;0.996;1.0	D;D;D;D;D	0.85130	0.969;0.993;0.932;0.986;0.997	T	0.47275	-0.9130	9	0.11794	T	0.64	-8.6358	14.4348	0.67274	1.0:0.0:0.0:0.0	.	182;226;213;213;195	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	G	213;213;195;226;182;146	.	ENSP00000303019:E182G	E	+	2	0	GPHN	66459317	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.039000	0.93777	1.817000	0.53016	0.528000	0.53228	GAG		0.478	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		G	67389564	A	G	67389564	3	3	321	1	0	0	0	0	1	0	0	0	6612	304	11	3	664	3	GPHN	14	67389564	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	2642730	67389564	39959976	37	18888											
AHNAK2	113146	hgsc.bcm.edu	37	14	105418155	105418155	+	Silent	SNP	G	G	C	rs141600524		TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr14:105418155G>C	ENST00000333244.5	-	7	3752	c.3633C>G	c.(3631-3633)ctC>ctG	p.L1211L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1211						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAATGCTGAGGTCAGTGG	0.647																																																0								G		80,3750		19,42,1854	104	78	86		3633	-6	0	14	dbSNP_134	86	913,6543		290,333,3105	no	coding-synonymous	AHNAK2	NM_138420.2		309,375,4959	CC,CG,GG		12.2452,2.0888,8.7985		1211/5796	105418155	993,10293	1915	3728	5643	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3633C>G	14.37:g.105418155G>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105418155	G	C	105418155	2	2	321	1	0	0	0	0	0	0	0	1	415	1277	45	4		4	AHNAK2	14	105418155	Silent	SNP	G	TCGA-BP-4167-01A-02D-1386-10	38028591	105418155	1931385	38	18889											
JAG2	3714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	105617708	105617708	+	Silent	SNP	C	C	T	rs147768578		TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr14:105617708C>T	ENST00000331782.3	-	9	1582	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.P393P	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	393	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.P393P(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGGCCGCACACGGGTTCGAAG	0.657																																																1	Substitution - coding silent(1)	kidney(1)						C	,	3,4403	6.2+/-15.9	0,3,2200	36	34	35		1179,1179	-7.5	0.2	14	dbSNP_134	35	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,3,6499	TT,TC,CC		0.0,0.0681,0.0231	,	393/1239,393/1201	105617708	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1179G>A	14.37:g.105617708C>T			Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	CCDS9998.1																																																																																				0.657	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			T	105617708	C	T	105617708	2	4	321	1	0	0	0	0	0	0	0	1	7937	523	19	1		1	JAG2	14	105617708	Silent	SNP	C	TCGA-BP-4167-01A-02D-1386-10	199553	105617708	1731832	39	18890											
ZNF200	7752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3274074	3274074	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr16:3274074A>T	ENST00000431561.3	-	5	1618	c.1006T>A	c.(1006-1008)Ttt>Att	p.F336I	ZNF200_ENST00000396871.4_Missense_Mutation_p.F335I|ZNF200_ENST00000575948.1_Missense_Mutation_p.F335I|ZNF200_ENST00000414144.2_Missense_Mutation_p.F336I|ZNF200_ENST00000396870.4_Missense_Mutation_p.F335I|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396868.3_Missense_Mutation_p.F335I	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.F336I(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GGACACTTAAATATCTTCTCC	0.418																																																1	Substitution - Missense(1)	kidney(1)											145	152	149					16																	3274074		2197	4300	6497	SO:0001583	missense	7752			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"Zinc fingers, C2H2-type"	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.1006T>A	16.37:g.3274074A>T	ENSP00000395723:p.Phe336Ile		D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674452	0.47781	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.23552	1.9;1.9;1.9	5.31	1.77	0.24775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.342769	0.21481	N	0.073838	T	0.29158	0.0725	M	0.79926	2.475	0.20703	N	0.999861	B;B;B	0.32653	0.379;0.379;0.328	B;B;B	0.33121	0.158;0.158;0.098	T	0.25082	-1.0142	10	0.87932	D	0	-25.878	7.615	0.28152	0.7186:0.0:0.2814:0.0	.	335;336;335	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	I	336;335;335;335;336	ENSP00000380077:F335I;ENSP00000380080:F335I;ENSP00000395723:F336I	ENSP00000380077:F335I	F	-	1	0	ZNF200	3214075	0.170000	0.23016	0.995000	0.50966	0.994000	0.84299	2.831000	0.48144	0.472000	0.27344	0.455000	0.32223	TTT		0.418	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			T	3274074	A	T	3274074	3	4	321	1	0	0	0	0	1	0	0	0	17767	101	4	5	185	5	ZNF200	16	3274074	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10		3274074	87080679	40	18891											
ZNF423	23090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	49672052	49672052	+	Silent	SNP	A	A	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr16:49672052A>T	ENST00000561648.1	-	4	1064	c.1011T>A	c.(1009-1011)ggT>ggA	p.G337G	ZNF423_ENST00000535559.1_Silent_p.G220G|ZNF423_ENST00000567169.1_Silent_p.G220G|ZNF423_ENST00000563137.2_Silent_p.G277G|ZNF423_ENST00000262383.2_Silent_p.G337G|ZNF423_ENST00000562871.1_Silent_p.G277G|ZNF423_ENST00000562520.1_Silent_p.G277G	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	337					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G337G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCAGTAGACACCTTCCACTG	0.617																																																2	Substitution - coding silent(2)	kidney(2)											81	65	70					16																	49672052		2198	4300	6498	SO:0001819	synonymous_variant	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1011T>A	16.37:g.49672052A>T			O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																				0.617	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		T	49672052	A	T	49672052	2	4	321	1	0	0	0	0	0	0	0	1	17903	146	6	5		5	ZNF423	16	49672052	Silent	SNP	A	TCGA-BP-4167-01A-02D-1386-10	46397978	49672052	40682701	41	18892											
RLTPR	146206	broad.mit.edu;ucsc.edu	37	16	67685104	67685104	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr16:67685104G>T	ENST00000334583.6	+	23	2527	c.2199G>T	c.(2197-2199)ttG>ttT	p.L733F	RLTPR_ENST00000545661.1_Missense_Mutation_p.L697F	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	733					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.L773F(1)|p.L733F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGAATGAATTGTGTCAGTCGG	0.612																																																2	Substitution - Missense(2)	kidney(2)											39	43	42					16																	67685104		2103	4235	6338	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2199G>T	16.37:g.67685104G>T	ENSP00000334958:p.Leu733Phe		B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248361	0.39797	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.54866	0.55;0.55	5.27	-0.372	0.12520	.	0.177005	0.35151	N	0.003402	T	0.52451	0.1735	M	0.62723	1.935	0.43688	D	0.99613	D;D	0.64830	0.994;0.994	P;P	0.56278	0.795;0.795	T	0.51212	-0.8734	10	0.54805	T	0.06	-10.6282	0.6903	0.00890	0.2425:0.1324:0.3542:0.271	.	697;733	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	F	733;697	ENSP00000334958:L733F;ENSP00000441481:L697F	ENSP00000334958:L733F	L	+	3	2	RLTPR	66242605	0.988000	0.35896	0.689000	0.30133	0.197000	0.23852	0.394000	0.20834	-0.289000	0.09038	-1.119000	0.02030	TTG		0.612	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		T	67685104	G	T	67685104	3	4	321	1	0	0	0	0	1	0	0	0	13400	1368	48	4	2289	4	RLTPR	16	67685104	Missense_Mutation	SNP	G	TCGA-BP-4167-01A-02D-1386-10	18013052	67685104	22669649	42	18893											
TEKT3	64518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15207259	15207259	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr17:15207259G>C	ENST00000395930.1	-	9	1653	c.1467C>G	c.(1465-1467)ttC>ttG	p.F489L	TEKT3_ENST00000338696.2_Missense_Mutation_p.F489L|TEKT3_ENST00000462175.1_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	489					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.F489L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GTCCCTAGCAGAAGCCGACCA	0.512																																																1	Substitution - Missense(1)	kidney(1)											87	78	81					17																	15207259		2203	4300	6503	SO:0001583	missense	64518			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1467C>G	17.37:g.15207259G>C	ENSP00000379263:p.Phe489Leu		B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533367	0.45073	.	.	ENSG00000125409	ENST00000395930;ENST00000338696	T;T	0.03663	3.85;3.85	5.36	4.39	0.52855	.	0.545336	0.21867	N	0.067950	T	0.05318	0.0141	L	0.40543	1.245	0.34223	D	0.675649	B	0.22800	0.075	B	0.24701	0.055	T	0.10109	-1.0644	10	0.72032	D	0.01	-2.9385	14.4635	0.67467	0.0713:0.0:0.9287:0.0	.	489	Q9BXF9	TEKT3_HUMAN	L	489	ENSP00000379263:F489L;ENSP00000343995:F489L	ENSP00000343995:F489L	F	-	3	2	TEKT3	15147984	0.999000	0.42202	0.981000	0.43875	0.940000	0.58332	1.393000	0.34497	1.406000	0.46857	0.561000	0.74099	TTC		0.512	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		C	15207259	G	C	15207259	3	2	321	1	0	0	0	0	1	0	0	0	15759	933	33	4	9	4	TEKT3	17	15207259	Missense_Mutation	SNP	G	TCGA-BP-4167-01A-02D-1386-10		15207259	65987951	43	18894											
CDK3	1018	broad.mit.edu;ucsc.edu	37	17	73999460	73999460	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr17:73999460A>G	ENST00000425876.2	+	6	861	c.773A>G	c.(772-774)gAg>gGg	p.E258G	CDK3_ENST00000448471.1_Missense_Mutation_p.E258G|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E258G(1)		central_nervous_system(1)	1						CTGGAGCCAGAGGGCAGGGAC	0.582																																																1	Substitution - Missense(1)	kidney(1)											49	52	51					17																	73999460		2203	4300	6503	SO:0001583	missense	1018			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"Cyclin-dependent kinases"	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.773A>G	17.37:g.73999460A>G	ENSP00000410561:p.Glu258Gly			Missense_Mutation	SNP	ENST00000425876.2	37	CCDS11736.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.723009	0.48728	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	T;T	0.69040	-0.37;-0.37	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.371677	0.22808	N	0.055395	T	0.58637	0.2136	L	0.43554	1.36	0.47183	D	0.999344	B	0.10296	0.003	B	0.12837	0.008	T	0.54814	-0.8237	10	0.29301	T	0.29	-25.5515	14.1992	0.65690	1.0:0.0:0.0:0.0	.	258	Q00526	CDK3_HUMAN	G	258	ENSP00000400088:E258G;ENSP00000410561:E258G	ENSP00000410561:E258G	E	+	2	0	CDK3	71511055	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	5.860000	0.69546	1.942000	0.56320	0.418000	0.28097	GAG		0.582	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258		G	73999460	A	G	73999460	3	3	321	1	0	0	0	0	1	0	0	0	3142	304	11	3	795	3	CDK3	17	73999460	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	58792201	73999460	7195750	44	18895											
SFRS2	6427	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74732441	74732441	+	Silent	SNP	T	T	C			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr17:74732441T>C	ENST00000392485.2	-	2	640	c.468A>G	c.(466-468)cgA>cgG	p.R156R	RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000508921.3_Silent_p.R144R|SRSF2_ENST00000359995.5_Silent_p.R156R|MFSD11_ENST00000593181.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	156	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R156R(1)|p.R136R(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						TCGACCGAGATCGAGAACGAG	0.652			Mis		"MDS, CLL"																																		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	2	Substitution - coding silent(2)	kidney(2)											99	79	86					17																	74732441		2203	4300	6503	SO:0001819	synonymous_variant	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.468A>G	17.37:g.74732441T>C			B3KWD5|B4DN89|H0YG49	Silent	SNP	ENST00000392485.2	37	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.314994	0.23908	.	.	ENSG00000161547	ENST00000452355	.	.	.	4.97	-1.41	0.08941	.	.	.	.	.	T	0.54095	0.1837	.	.	.	0.47994	D	0.999569	.	.	.	.	.	.	T	0.48525	-0.9028	5	0.30078	T	0.28	.	9.2584	0.37597	0.0:0.2292:0.4363:0.3346	.	.	.	.	G	106	.	ENSP00000391278:D106G	D	-	2	0	SRSF2	72244036	0.007000	0.16637	0.004000	0.12327	0.724000	0.41520	-1.838000	0.01687	-0.177000	0.10690	-0.247000	0.11927	GAT		0.652	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		C	74732441	T	C	74732441	2	2	321	1	0	0	0	0	0	0	0	1	14181	1422	50	3		3	SFRS2	17	74732441	Silent	SNP	T	TCGA-BP-4167-01A-02D-1386-10	732981	74732441	6462769	45	18896											
ZNF519	162655	hgsc.bcm.edu	37	18	14105186	14105186	+	Silent	SNP	T	T	C	rs145376132	byFrequency	TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr18:14105186T>C	ENST00000590202.1	-	3	1505	c.1353A>G	c.(1351-1353)caA>caG	p.Q451Q	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	451					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TATGGATTCTTTGATGTCGAG	0.423													T|||	32	0.00638978	0.0008	0.0159	5008	,	,		22131	0.0		0.0159	False		,,,				2504	0.0041															0								T		11,4395	15.5+/-35.6	0,11,2192	66	65	65		1353	-1.3	0.1	18	dbSNP_134	65	155,8445	59.5+/-121.1	3,149,4148	no	coding-synonymous	ZNF519	NM_145287.3		3,160,6340	CC,CT,TT		1.8023,0.2497,1.2763		451/541	14105186	166,12840	2203	4300	6503	SO:0001819	synonymous_variant	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1353A>G	18.37:g.14105186T>C				Silent	SNP	ENST00000590202.1	37	CCDS32797.1																																																																																				0.423	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		C	14105186	T	C	14105186	2	2	321	1	0	0	0	0	0	0	0	1	17969	1838	64	3		3	ZNF519	18	14105186	Silent	SNP	T	TCGA-BP-4167-01A-02D-1386-10		14105186	63972062	46	18897											
CTDP1	9150	hgsc.bcm.edu;ucsc.edu	37	18	77488985	77488985	+	Silent	SNP	T	T	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr18:77488985T>A	ENST00000299543.7	+	11	2643	c.2496T>A	c.(2494-2496)tcT>tcA	p.S832S	CTDP1_ENST00000075430.7_Intron	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	832					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTGGCCCTTCTAGAAGAAAGC	0.542																																																0													190	201	197					18																	77488985		2203	4300	6503	SO:0001819	synonymous_variant	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2496T>A	18.37:g.77488985T>A			A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	CCDS12017.1																																																																																				0.542	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		A	77488985	T	A	77488985	2	1	321	1	0	0	0	0	0	0	0	1	4004	1509	53	5		5	CTDP1	18	77488985	Silent	SNP	T	TCGA-BP-4167-01A-02D-1386-10	63383799	77488985	588263	47	18898											
ATCAY	85300	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3905489	3905489	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr19:3905489C>T	ENST00000450849.2	+	4	661	c.194C>T	c.(193-195)gCc>gTc	p.A65V	ATCAY_ENST00000301260.6_Missense_Mutation_p.A65V|ATCAY_ENST00000398448.3_Missense_Mutation_p.A71V|ATCAY_ENST00000600960.1_Missense_Mutation_p.A65V	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	65					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.A65V(2)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGCTGGTGGCCCCAGAGATC	0.488																																																2	Substitution - Missense(2)	kidney(2)											66	67	66					19																	3905489		1958	4142	6100	SO:0001583	missense	85300				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.194C>T	19.37:g.3905489C>T	ENSP00000390941:p.Ala65Val		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109962	0.77210	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.61392	0.21;0.21;0.11	4.8	4.8	0.61643	.	0.108387	0.64402	D	0.000007	T	0.77658	0.4163	M	0.86097	2.795	0.50813	D	0.999896	D;D	0.67145	0.996;0.986	D;D	0.70016	0.967;0.936	T	0.79614	-0.1730	10	0.40728	T	0.16	.	16.8586	0.86012	0.0:1.0:0.0:0.0	.	71;65	B4DS11;Q86WG3	.;ATCAY_HUMAN	V	65;65;65;71;43	ENSP00000390941:A65V;ENSP00000301260:A65V;ENSP00000381466:A71V	ENSP00000301260:A65V	A	+	2	0	ATCAY	3856489	1.000000	0.71417	0.980000	0.43619	0.323000	0.28346	7.243000	0.78219	2.210000	0.71456	0.549000	0.68633	GCC		0.488	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			T	3905489	C	T	3905489	3	4	321	1	0	0	0	0	1	0	0	0	1077	739	26	2	204	2	ATCAY	19	3905489	Missense_Mutation	SNP	C	TCGA-BP-4167-01A-02D-1386-10		3905489	55223494	48	18899											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9072939	9072939	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr19:9072939C>T	ENST00000397910.4	-	3	14710	c.14507G>A	c.(14506-14508)gGg>gAg	p.G4836E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4838	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G4836E(2)|p.G469E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCGGTGGTCCCCACATTGGT	0.458																																																3	Substitution - Missense(3)	kidney(3)											171	160	164					19																	9072939		2076	4202	6278	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14507G>A	19.37:g.9072939C>T	ENSP00000381008:p.Gly4836Glu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.290	0.053049	0.08291	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.21	-2.92	0.05615	.	.	.	.	.	T	0.27027	0.0662	L	0.46157	1.445	.	.	.	P	0.51791	0.948	P	0.55749	0.783	T	0.24333	-1.0163	8	0.87932	D	0	.	0.2531	0.00208	0.209:0.2945:0.206:0.2905	.	4836	B5ME49	.	E	4836	ENSP00000381008:G4836E	ENSP00000381008:G4836E	G	-	2	0	MUC16	8933939	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.099000	0.01346	-0.619000	0.05648	0.457000	0.33378	GGG		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9072939	C	T	9072939	3	4	321	1	0	0	0	0	1	0	0	0	9975	623	22	2	29344	2	MUC16	19	9072939	Missense_Mutation	SNP	C	TCGA-BP-4167-01A-02D-1386-10	5167450	9072939	50056044	49	18900											
USHBP1	83878	broad.mit.edu	37	19	17373404	17373404	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr19:17373404G>A	ENST00000252597.3	-	4	772	c.599C>T	c.(598-600)tCc>tTc	p.S200F	USHBP1_ENST00000431146.2_Missense_Mutation_p.S136F|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.S200F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGCCTCCAGGGAGGCCTGCGT	0.667																																																1	Substitution - Missense(1)	kidney(1)											43	41	42					19																	17373404		2202	4299	6501	SO:0001583	missense	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.599C>T	19.37:g.17373404G>A	ENSP00000252597:p.Ser200Phe			Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	G	8.585	0.883273	0.17467	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.25085	1.84;1.82	3.61	1.29	0.21616	.	0.679258	0.13392	N	0.391298	T	0.15349	0.0370	N	0.20986	0.625	0.09310	N	0.999996	B;B;B	0.15930	0.005;0.015;0.005	B;B;B	0.14578	0.007;0.011;0.007	T	0.21449	-1.0245	10	0.52906	T	0.07	-5.0796	5.7933	0.18373	0.1105:0.0:0.6987:0.1908	.	136;200;200	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	F	200;136;200	ENSP00000252597:S200F;ENSP00000407902:S136F	ENSP00000252597:S200F	S	-	2	0	USHBP1	17234404	0.204000	0.23447	0.018000	0.16275	0.646000	0.38490	2.306000	0.43673	0.139000	0.18822	0.313000	0.20887	TCC		0.667	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		A	17373404	G	A	17373404	3	1	321	1	0	0	0	0	1	0	0	0	17042	1174	41	2	1552	2	USHBP1	19	17373404	Missense_Mutation	SNP	G	TCGA-BP-4167-01A-02D-1386-10	8300465	17373404	41755579	50	18901											
ZNF98	148198	broad.mit.edu	37	19	22574754	22574754	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr19:22574754T>G	ENST00000357774.5	-	4	1404	c.1283A>C	c.(1282-1284)cAt>cCt	p.H428P		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H428P(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CTCTCCAGTATGAATTCTCTT	0.378																																																2	Substitution - Missense(2)	kidney(2)											11	12	12					19																	22574754		1404	3312	4716	SO:0001583	missense	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1283A>C	19.37:g.22574754T>G	ENSP00000350418:p.His428Pro			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	13.39	2.223916	0.39300	.	.	ENSG00000197360	ENST00000357774	T	0.67698	-0.28	1.26	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85314	0.5668	H	0.97540	4.025	0.32855	D	0.507176	D	0.71674	0.998	D	0.77557	0.99	D	0.85251	0.1044	9	0.87932	D	0	.	7.4008	0.26962	0.0:0.0:0.0:1.0	.	428	A6NK75	ZNF98_HUMAN	P	428	ENSP00000350418:H428P	ENSP00000350418:H428P	H	-	2	0	ZNF98	22366594	1.000000	0.71417	0.001000	0.08648	0.007000	0.05969	3.874000	0.56101	0.557000	0.29117	0.240000	0.17902	CAT		0.378	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		G	22574754	T	G	22574754	3	3	321	1	0	0	0	0	1	0	0	0	18208	1464	51	5	439	5	ZNF98	19	22574754	Missense_Mutation	SNP	T	TCGA-BP-4167-01A-02D-1386-10	5201350	22574754	36554229	51	18902											
CIC	23152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42793535	42793535	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr19:42793535A>T	ENST00000575354.2	+	8	1377	c.1337A>T	c.(1336-1338)gAg>gTg	p.E446V	CIC_ENST00000572681.2_Missense_Mutation_p.E1355V|CIC_ENST00000160740.3_Missense_Mutation_p.E446V	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E446V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATCTGTGAGGAGGAAGGGGAT	0.612			"Mis, F, S"		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Substitution - Missense(1)	kidney(1)											71	54	60					19																	42793535		2201	4291	6492	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1337A>T	19.37:g.42793535A>T	ENSP00000458663:p.Glu446Val		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019180	0.54576	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.61	3.59	0.41128	.	.	.	.	.	T	0.51618	0.1685	N	0.24115	0.695	0.50039	D	0.999847	D	0.69078	0.997	P	0.60789	0.879	T	0.53436	-0.8439	8	0.87932	D	0	-18.6633	8.2845	0.31920	0.9047:0.0:0.0953:0.0	.	446	Q96RK0	CIC_HUMAN	V	446	.	ENSP00000160740:E446V	E	+	2	0	CIC	47485375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.231000	0.78106	0.911000	0.36747	0.459000	0.35465	GAG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			T	42793535	A	T	42793535	3	4	321	1	0	0	0	0	1	0	0	0	3426	304	11	5	1367	5	CIC	19	42793535	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	20218781	42793535	16335448	52	18903											
PSG5	5673	broad.mit.edu;hgsc.bcm.edu	37	19	43679580	43679580	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr19:43679580A>G	ENST00000366175.3	-	4	881	c.751T>C	c.(751-753)Tac>Cac	p.Y251H	PSG5_ENST00000342951.6_Missense_Mutation_p.Y251H|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Missense_Mutation_p.Y251H|PSG5_ENST00000599812.1_Missense_Mutation_p.Y344H|PSG5_ENST00000407356.1_Missense_Mutation_p.Y251H			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	251	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.Y251H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCTGAACGGTAATAGGTGAAT	0.488																																																1	Substitution - Missense(1)	kidney(1)											145	160	154					19																	43679580		2202	4295	6497	SO:0001583	missense	5673				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.751T>C	19.37:g.43679580A>G	ENSP00000382334:p.Tyr251His		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	a	10.89	1.477027	0.26511	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	1.25	1.25	0.21368	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31040	0.0784	M	0.78916	2.43	0.09310	N	0.999999	B;B	0.31241	0.315;0.175	P;B	0.53224	0.721;0.33	T	0.43686	-0.9376	9	0.52906	T	0.07	.	4.5793	0.12252	1.0:0.0:0.0:0.0	.	344;251	Q15228;Q15238	.;PSG5_HUMAN	H	251	ENSP00000382334:Y251H;ENSP00000386008:Y251H;ENSP00000344413:Y251H;ENSP00000385250:Y251H	ENSP00000344413:Y251H	Y	-	1	0	PSG5	48371420	0.001000	0.12720	0.011000	0.14972	0.037000	0.13140	0.458000	0.21892	0.539000	0.28788	0.155000	0.16302	TAC		0.488	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		G	43679580	A	G	43679580	3	3	321	1	0	0	0	0	1	0	0	0	12663	362	13	3	264	3	PSG5	19	43679580	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	886045	43679580	15449403	53	18904											
NFS1	9054	broad.mit.edu;hgsc.bcm.edu	37	20	34285610	34285610	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr20:34285610C>T	ENST00000374092.4	-	3	390	c.320G>A	c.(319-321)cGt>cAt	p.R107H	NFS1_ENST00000540053.1_5'UTR|NFS1_ENST00000397425.1_Missense_Mutation_p.R47H|ROMO1_ENST00000374077.3_5'Flank|ROMO1_ENST00000397416.1_5'Flank|ROMO1_ENST00000374072.1_5'Flank|NFS1_ENST00000541387.1_Missense_Mutation_p.R107H|NFS1_ENST00000374085.1_Missense_Mutation_p.R47H|ROMO1_ENST00000336695.4_5'Flank|ROMO1_ENST00000374078.1_5'Flank|NFS1_ENST00000306750.3_Missense_Mutation_p.R107H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	107					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.R107H(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	ACTAACCTGACGAGCACGTTC	0.522																																																1	Substitution - Missense(1)	kidney(1)											96	88	90					20																	34285610		2203	4300	6503	SO:0001583	missense	9054			AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"nitrogen fixation 1 (S. cerevisiae, homolog)", "NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.320G>A	20.37:g.34285610C>T	ENSP00000363205:p.Arg107His		B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803438	0.96960	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000541387;ENST00000537772;ENST00000419569;ENST00000306750	D;D;D;T;D;D	0.91295	-2.82;-2.82;-2.82;0.86;-2.82;-2.82	5.75	5.75	0.90469	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.98071	0.9364	H	0.99914	4.94	0.80722	D	1	P;D;D	0.89917	0.935;1.0;0.982	P;D;P	0.72982	0.54;0.979;0.631	D	0.99387	1.0924	10	0.87932	D	0	-4.8141	19.9273	0.97107	0.0:1.0:0.0:0.0	.	107;107;107	F5GYK5;Q8WV90;Q9Y697	.;.;NFS1_HUMAN	H	107;47;47;107;107;47;107	ENSP00000363205:R107H;ENSP00000363198:R47H;ENSP00000380570:R47H;ENSP00000440897:R107H;ENSP00000393482:R47H;ENSP00000304740:R107H	ENSP00000304740:R107H	R	-	2	0	NFS1	33749024	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.404000	0.79996	2.718000	0.92993	0.591000	0.81541	CGT		0.522	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		T	34285610	C	T	34285610	3	4	321	1	0	0	0	0	1	0	0	0	10387	536	19	1	1097	1	NFS1	20	34285610	Missense_Mutation	SNP	C	TCGA-BP-4167-01A-02D-1386-10		34285610	28739910	54	18905											
GTSE1	51512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	46712158	46712158	+	Silent	SNP	C	C	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr22:46712158C>A	ENST00000454366.1	+	7	1493	c.1281C>A	c.(1279-1281)ggC>ggA	p.G427G		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	408					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.G408G(1)|p.G427G(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGGAAGGTGGCGGCCAGTGGC	0.567																																					GBM(153;542 1915 12487 29016 50495)											2	Substitution - coding silent(2)	kidney(2)											38	46	43					22																	46712158		2198	4298	6496	SO:0001819	synonymous_variant	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1281C>A	22.37:g.46712158C>A			B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Silent	SNP	ENST00000454366.1	37	CCDS14074.2																																																																																				0.567	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		A	46712158	C	A	46712158	2	1	321	1	0	0	0	0	0	0	0	1	6887	755	27	4		4	GTSE1	22	46712158	Silent	SNP	C	TCGA-BP-4167-01A-02D-1386-10		46712158	4592408	55	18906											
CELSR1	9620	broad.mit.edu;ucsc.edu	37	22	46807533	46807533	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chr22:46807533A>G	ENST00000262738.3	-	6	4734	c.4735T>C	c.(4735-4737)Tgc>Cgc	p.C1579R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1579	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.C1579R(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGGGCAGCGCAGCTGTAGTTC	0.627																																																1	Substitution - Missense(1)	kidney(1)											86	73	77					22																	46807533		2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4735T>C	22.37:g.46807533A>G	ENSP00000262738:p.Cys1579Arg		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983732	0.74474	.	.	ENSG00000075275	ENST00000262738	T	0.73152	-0.72	4.43	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	U	0.000000	D	0.87346	0.6154	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90606	0.4548	10	0.87932	D	0	.	13.6763	0.62456	1.0:0.0:0.0:0.0	.	1579	Q9NYQ6	CELR1_HUMAN	R	1579	ENSP00000262738:C1579R	ENSP00000262738:C1579R	C	-	1	0	CELSR1	45186197	1.000000	0.71417	0.993000	0.49108	0.931000	0.56810	8.628000	0.90979	1.769000	0.52152	0.533000	0.62120	TGC		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		G	46807533	A	G	46807533	3	3	321	1	0	0	0	0	1	0	0	0	3223	188	7	3	4429	3	CELSR1	22	46807533	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	95375	46807533	4497033	56	18907											
TAF7L	54457	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	100532702	100532702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chrX:100532702C>A	ENST00000372907.3	-	9	852	c.841G>T	c.(841-843)Gaa>Taa	p.E281*	TAF7L_ENST00000324762.6_Nonsense_Mutation_p.E195*|TAF7L_ENST00000356784.1_Nonsense_Mutation_p.E195*|TAF7L_ENST00000372905.2_Nonsense_Mutation_p.E195*	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	281					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)		p.E281*(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCAATGACTTCCCAACCTGAA	0.453																																					Ovarian(104;431 1530 3210 15406 18594)											1	Substitution - Nonsense(1)	kidney(1)											108	100	103					X																	100532702		2203	4300	6503	SO:0001587	stop_gained	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.841G>T	X.37:g.100532702C>A	ENSP00000361998:p.Glu281*		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Nonsense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	c	33	5.242906	0.95272	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	.	.	.	5.29	4.43	0.53597	.	0.130020	0.35555	N	0.003121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.4773	13.1451	0.59456	0.0:0.9204:0.0:0.0796	.	.	.	.	X	281;195;195;195	.	ENSP00000320283:E195X	E	-	1	0	TAF7L	100419358	1.000000	0.71417	0.999000	0.59377	0.150000	0.21749	3.967000	0.56802	1.107000	0.41642	0.597000	0.82753	GAA		0.453	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			A	100532702	C	A	100532702	4	1	321	1	0	0	0	0	0	1	0	0	15538	864	30	4	567	4	TAF7L	23	100532702	Nonsense_Mutation	SNP	C	TCGA-BP-4167-01A-02D-1386-10		100532702	54737858	57	18908											
GPR101	83550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	136112680	136112680	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chrX:136112680C>T	ENST00000298110.1	-	1	1153	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	385						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.S385N(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGGAGGGTTGCTGTTGCTGTT	0.512																																																1	Substitution - Missense(1)	kidney(1)											169	144	152					X																	136112680		2203	4300	6503	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1154G>A	X.37:g.136112680C>T	ENSP00000298110:p.Ser385Asn		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	4.583	0.108251	0.08780	.	.	ENSG00000165370	ENST00000298110	T	0.73047	-0.71	4.93	0.978	0.19740	GPCR, rhodopsin-like superfamily (1);	0.387908	0.19051	N	0.124040	T	0.50973	0.1647	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.28713	-1.0035	10	0.29301	T	0.29	-3.9898	1.0976	0.01676	0.1594:0.4104:0.1523:0.2778	.	385	Q96P66	GP101_HUMAN	N	385	ENSP00000298110:S385N	ENSP00000298110:S385N	S	-	2	0	GPR101	135940346	0.000000	0.05858	0.000000	0.03702	0.819000	0.46315	-0.301000	0.08232	-0.059000	0.13154	0.529000	0.55759	AGC		0.512	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			T	136112680	C	T	136112680	3	4	321	1	0	0	0	0	1	0	0	0	6624	797	28	2	375	2	GPR101	23	136112680	Missense_Mutation	SNP	C	TCGA-BP-4167-01A-02D-1386-10	35579978	136112680	19157880	58	18909											
MAGEC3	139081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	140953292	140953292	+	Silent	SNP	C	C	T			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chrX:140953292C>T	ENST00000298296.1	+	2	159	c.159C>T	c.(157-159)gcC>gcT	p.A53A		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	53								p.A53A(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACTATTCTGCCTTTCATCTTG	0.512																																																1	Substitution - coding silent(1)	kidney(1)											190	150	164					X																	140953292		2203	4300	6503	SO:0001819	synonymous_variant	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.159C>T	X.37:g.140953292C>T			Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	CCDS14676.1																																																																																				0.512	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		T	140953292	C	T	140953292	2	4	321	1	0	0	0	0	0	0	0	1	9184	668	24	2		2	MAGEC3	23	140953292	Silent	SNP	C	TCGA-BP-4167-01A-02D-1386-10	4840612	140953292	14317268	59	18910											
IL9R	3581	broad.mit.edu	37	X	155239824	155239824	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chrX:155239824A>G	ENST00000244174.5	+	9	1495	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.N418S|IL9R_ENST00000540897.1_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	439	Poly-Asn.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.N439S(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcagcaacaacaacaAC	0.642													a|||	711	0.141973	0.0825	0.085	5008	,	,		13060	0.0883		0.1491	False		,,,				2504	0.3108															1	Substitution - Missense(1)	kidney(1)											7	14	12					X																	155239824		2081	4221	6302	SO:0001583	missense	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1316A>G	X.37:g.155239824A>G	ENSP00000244174:p.Asn439Ser		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	a	1.685	-0.505533	0.04261	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10192	2.9;2.9	.	.	.	.	3.894160	0.00911	N	0.002464	T	0.04634	0.0126	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27054	-1.0085	5	0.18710	T	0.47	.	.	.	.	.	439	Q01113	IL9R_HUMAN	S	439;418	ENSP00000244174:N439S;ENSP00000388918:N418S	ENSP00000244174:N439S	N	+	2	0	IL9R	154893018	0.003000	0.15002	0.007000	0.13788	0.007000	0.05969	-1.580000	0.02121	-1.735000	0.01353	-1.704000	0.00719	AAC		0.642	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		G	155239824	A	G	155239824	3	3	321	1	0	0	0	0	1	0	0	0	7710	43	2	3	1350	3	IL9R	23	155239824	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	14286532	155239824	30736	60	18911	152	2									
IL9R	3581	broad.mit.edu	37	X	155239827	155239827	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4167-01A-02D-1386-10	TCGA-BP-4167-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79b810e1-4de4-496d-9f70-ab62246e781b	be250c13-93c8-4e95-b0b9-c6a4fce00090	g.chrX:155239827A>G	ENST00000244174.5	+	9	1498	c.1319A>G	c.(1318-1320)aAc>aGc	p.N440S	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.N419S|IL9R_ENST00000540897.1_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	440	Poly-Asn.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.N440S(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcaacaacaacaACTAC	0.642													a|||	523	0.104433	0.0136	0.0605	5008	,	,		13185	0.0298		0.1471	False		,,,				2504	0.2914															1	Substitution - Missense(1)	kidney(1)											7	13	11					X																	155239827		2072	4217	6289	SO:0001583	missense	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1319A>G	X.37:g.155239827A>G	ENSP00000244174:p.Asn440Ser		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	a	0	-2.858724	0.00065	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.07908	3.16;3.15	.	.	.	.	12.144800	0.00166	N	0.000006	T	0.03827	0.0108	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33317	-0.9873	5	0.10636	T	0.68	.	.	.	.	.	440	Q01113	IL9R_HUMAN	S	440;419	ENSP00000244174:N440S;ENSP00000388918:N419S	ENSP00000244174:N440S	N	+	2	0	IL9R	154893021	0.004000	0.15560	0.007000	0.13788	0.007000	0.05969	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	AAC		0.642	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		G	155239827	A	G	155239827	3	3	321	1	0	0	0	0	1	0	0	0	7710	43	2	3	1353	3	IL9R	23	155239827	Missense_Mutation	SNP	A	TCGA-BP-4167-01A-02D-1386-10	3	155239827	30733	61	18912	152	2									
SFPQ	6421	hgsc.bcm.edu;ucsc.edu	37	1	35657116	35657116	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr1:35657116A>T	ENST00000357214.5	-	2	941	c.843T>A	c.(841-843)aaT>aaA	p.N281K		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	281					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AGAGAGACAAATTGGCTTTAA	0.408			T	TFE3	papillary renal cell																																		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													64	64	64					1																	35657116		2203	4300	6503	SO:0001583	missense	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.843T>A	1.37:g.35657116A>T	ENSP00000349748:p.Asn281Lys		P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	CCDS388.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863647	0.51482	.	.	ENSG00000116560	ENST00000357214	T	0.22134	1.97	5.31	1.94	0.25998	.	0.048478	0.85682	D	0.000000	T	0.18215	0.0437	L	0.36672	1.1	0.34750	D	0.731643	D	0.57257	0.979	P	0.47528	0.549	T	0.23583	-1.0184	10	0.66056	D	0.02	-8.159	6.1924	0.20532	0.2932:0.0:0.5782:0.1286	.	281	P23246	SFPQ_HUMAN	K	281	ENSP00000349748:N281K	ENSP00000349748:N281K	N	-	3	2	SFPQ	35429703	0.973000	0.33851	1.000000	0.80357	0.977000	0.68977	0.032000	0.13732	0.630000	0.30394	-0.230000	0.12252	AAT		0.408	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		T	35657116	A	T	35657116	3	4	322	1	0	0	0	0	1	0	0	0	14166	98	4	5	1316	5	SFPQ	1	35657116	Missense_Mutation	SNP	A	TCGA-BP-4169-01A-02D-1366-10		35657116	213593505	1	18913											
COL9A2	1298	hgsc.bcm.edu;ucsc.edu	37	1	40776390	40776390	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr1:40776390G>A	ENST00000372748.3	-	13	776	c.680C>T	c.(679-681)cCa>cTa	p.P227L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	227	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCTTACCGGTGGTCCAGGGAT	0.577																																																0													55	52	53					1																	40776390		2199	4294	6493	SO:0001583	missense	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.680C>T	1.37:g.40776390G>A	ENSP00000361834:p.Pro227Leu		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.262038	0.80358	.	.	ENSG00000049089	ENST00000372748	D	0.92446	-3.04	5.63	5.63	0.86233	.	0.156761	0.64402	D	0.000019	D	0.92821	0.7717	L	0.49350	1.555	0.80722	D	1	D	0.56968	0.978	P	0.57620	0.824	D	0.90197	0.4254	10	0.19147	T	0.46	.	15.2358	0.73430	0.0:0.0:1.0:0.0	.	227	Q14055	CO9A2_HUMAN	L	227	ENSP00000361834:P227L	ENSP00000361834:P227L	P	-	2	0	COL9A2	40548977	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	3.688000	0.54699	2.660000	0.90430	0.558000	0.71614	CCA		0.577	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		A	40776390	G	A	40776390	3	1	322	1	0	0	0	0	1	0	0	0	3710	1348	47	2	1469	2	COL9A2	1	40776390	Missense_Mutation	SNP	G	TCGA-BP-4169-01A-02D-1366-10	5119274	40776390	208474231	2	18914											
C1orf173	127254	hgsc.bcm.edu	37	1	75102070	75102070	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr1:75102070A>G	ENST00000326665.5	-	6	715	c.497T>C	c.(496-498)tTa>tCa	p.L166S	C1orf173_ENST00000420661.2_5'Flank	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		166										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAGAGGCTGTAATCGAATTGG	0.418																																																0													224	233	230					1																	75102070		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.497T>C	1.37:g.75102070A>G	ENSP00000322609:p.Leu166Ser		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001059	0.54254	.	.	ENSG00000178965	ENST00000326665	T	0.17691	2.26	5.65	5.65	0.86999	.	.	.	.	.	T	0.29093	0.0723	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01748	-1.1282	9	0.40728	T	0.16	-2.2757	14.8655	0.70412	1.0:0.0:0.0:0.0	.	166	Q5RHP9	CA173_HUMAN	S	166	ENSP00000322609:L166S	ENSP00000322609:L166S	L	-	2	0	C1orf173	74874658	1.000000	0.71417	0.991000	0.47740	0.309000	0.27889	6.287000	0.72671	2.150000	0.67090	0.455000	0.32223	TTA		0.418	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			G	75102070	A	G	75102070	3	3	322	1	0	0	0	0	1	0	0	0	2016	372	13	3	4131	3	C1orf173	1	75102070	Missense_Mutation	SNP	A	TCGA-BP-4169-01A-02D-1366-10	34325680	75102070	174148551	3	18915											
C1orf14	81626	hgsc.bcm.edu	37	1	182869245	182869245	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr1:182869245C>G	ENST00000367547.3	-	10	2071	c.1835G>C	c.(1834-1836)aGg>aCg	p.R612T	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.R493T	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	684										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TGAAGAAGCCCTTTTGTTGAG	0.323																																																0													67	66	66					1																	182869245		2203	4299	6502	SO:0001583	missense	0			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1835G>C	1.37:g.182869245C>G	ENSP00000356518:p.Arg612Thr		Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645450	0.29246	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.41065	1.01;1.02	5.56	4.64	0.57946	Pectin lyase fold/virulence factor (1);	0.334072	0.26065	N	0.026545	T	0.19087	0.0458	N	0.08118	0	0.23802	N	0.996803	B;B;B	0.31383	0.321;0.039;0.175	B;B;B	0.30251	0.113;0.043;0.043	T	0.14117	-1.0484	10	0.15499	T	0.54	-13.3422	7.5892	0.28010	0.0:0.8341:0.0:0.1659	.	684;493;612	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	T	612;681;493	ENSP00000356518:R612T;ENSP00000397308:R493T	ENSP00000287709:R681T	R	-	2	0	SHCBP1L	181135868	0.950000	0.32346	1.000000	0.80357	0.830000	0.47004	0.908000	0.28545	2.617000	0.88574	0.585000	0.79938	AGG		0.323	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		G	182869245	C	G	182869245	3	3	322	1	0	0	0	0	1	0	0	0	2002	681	24	4	130	4	C1orf14	1	182869245	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10	107767175	182869245	66381376	4	18916											
PLEKHA6	22874	hgsc.bcm.edu;ucsc.edu	37	1	204228767	204228767	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr1:204228767C>T	ENST00000272203.3	-	8	942	c.626G>A	c.(625-627)gGg>gAg	p.G209E	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.G229E	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	209	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ATCACCCTCCCCTCGAGTCTT	0.612																																																0													64	61	62					1																	204228767		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.626G>A	1.37:g.204228767C>T	ENSP00000272203:p.Gly209Glu		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844167	0.71488	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.10382	2.88;3.34	5.55	4.63	0.57726	.	0.395725	0.27782	N	0.017874	T	0.29423	0.0733	M	0.62723	1.935	0.51233	D	0.999913	D	0.89917	1.0	D	0.85130	0.997	T	0.01169	-1.1430	10	0.42905	T	0.14	-39.493	13.912	0.63873	0.0:0.9257:0.0:0.0743	.	209	Q9Y2H5	PKHA6_HUMAN	E	209;229	ENSP00000272203:G209E;ENSP00000402046:G229E	ENSP00000272203:G209E	G	-	2	0	PLEKHA6	202495390	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.073000	0.57570	1.325000	0.45301	0.561000	0.74099	GGG		0.612	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		T	204228767	C	T	204228767	3	4	322	1	0	0	0	0	1	0	0	0	12062	623	22	2	2580	2	PLEKHA6	1	204228767	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10	21359522	204228767	45021854	5	18917											
OBSCN	84033	hgsc.bcm.edu;ucsc.edu	37	1	228511298	228511298	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr1:228511298C>T	ENST00000422127.1	+	56	15687	c.15643C>T	c.(15643-15645)Cgt>Tgt	p.R5215C	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2849C|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6172C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2334C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5215C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5215	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTGAGCTCCGTGTGGACTG	0.587																																																0													61	64	63					1																	228511298		2166	4266	6432	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15643C>T	1.37:g.228511298C>T	ENSP00000409493:p.Arg5215Cys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805823	0.90623	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.069529	0.56097	D	0.000040	T	0.81422	0.4819	M	0.77616	2.38	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.82676	-0.0339	10	0.66056	D	0.02	.	14.2492	0.66009	0.1488:0.8512:0.0:0.0	.	5215;5215	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	5215;5215;2849;2334	ENSP00000284548:R5215C;ENSP00000409493:R5215C;ENSP00000355668:R2849C;ENSP00000355670:R2334C	ENSP00000284548:R5215C	R	+	1	0	OBSCN	226577921	0.987000	0.35691	0.999000	0.59377	0.934000	0.57294	2.702000	0.47102	2.808000	0.96608	0.655000	0.94253	CGT		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228511298	C	T	228511298	3	4	322	1	0	0	0	0	1	0	0	0	10814	652	23	1	15861	1	OBSCN	1	228511298	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10	24282531	228511298	20739323	6	18918											
MYT1L	23040	hgsc.bcm.edu;ucsc.edu	37	2	1921063	1921063	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr2:1921063C>A	ENST00000399161.2	-	11	2279	c.1532G>T	c.(1531-1533)tGt>tTt	p.C511F	MYT1L_ENST00000428368.2_Missense_Mutation_p.C509F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	511					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTCCATCACACCCGGGGGT	0.507																																																0													194	201	199					2																	1921063		1949	4164	6113	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1532G>T	2.37:g.1921063C>A	ENSP00000382114:p.Cys511Phe		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	28.2	4.895698	0.91962	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.70516	-0.49;-0.05	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89582	0.3821	10	0.87932	D	0	-21.0443	19.8984	0.96975	0.0:1.0:0.0:0.0	.	511;509	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	F	511;457;509	ENSP00000382114:C511F;ENSP00000396103:C509F	ENSP00000295067:C457F	C	-	2	0	MYT1L	1900070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.713000	0.92767	0.655000	0.94253	TGT		0.507	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		A	1921063	C	A	1921063	3	1	322	1	0	0	0	0	1	0	0	0	10109	478	17	4	2088	4	MYT1L	2	1921063	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10		1921063	241278310	7	18919											
SCN2A	6326	hgsc.bcm.edu;ucsc.edu	37	2	166152464	166152464	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr2:166152464A>G	ENST00000375437.2	+	2	421	c.131A>G	c.(130-132)gAg>gGg	p.E44G	SCN2A_ENST00000375427.2_Missense_Mutation_p.E44G|SCN2A_ENST00000283256.6_Missense_Mutation_p.E44G|SCN2A_ENST00000357398.3_Missense_Mutation_p.E44G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	44					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGCAAGGATGAGGATGATGAA	0.468																																																0													102	92	95					2																	166152464		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.131A>G	2.37:g.166152464A>G	ENSP00000364586:p.Glu44Gly		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.748462	0.30955	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96830	-4.14;-4.13;-4.13;-4.13;-4.13	5.55	5.55	0.83447	.	0.627479	0.15917	N	0.238328	D	0.93572	0.7948	L	0.42245	1.32	0.35917	D	0.831533	B;B	0.15719	0.014;0.014	B;B	0.18871	0.023;0.01	D	0.92685	0.6161	10	0.62326	D	0.03	.	10.103	0.42517	0.9256:0.0:0.0744:0.0	.	44;44	Q99250-2;Q99250	.;SCN2A_HUMAN	G	44	ENSP00000406454:E44G;ENSP00000364586:E44G;ENSP00000349973:E44G;ENSP00000283256:E44G;ENSP00000364576:E44G	ENSP00000283256:E44G	E	+	2	0	SCN2A	165860710	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.544000	0.67231	2.117000	0.64856	0.533000	0.62120	GAG		0.468	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		G	166152464	A	G	166152464	3	3	322	1	0	0	0	0	1	0	0	0	13922	304	11	3	133	3	SCN2A	2	166152464	Missense_Mutation	SNP	A	TCGA-BP-4169-01A-02D-1366-10	164231401	166152464	77046909	8	18920											
PER2	8864	hgsc.bcm.edu;ucsc.edu	37	2	239185783	239185783	+	Silent	SNP	T	T	C			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr2:239185783T>C	ENST00000254657.3	-	3	561	c.282A>G	c.(280-282)acA>acG	p.T94T	PER2_ENST00000440245.1_Silent_p.T94T|PER2_ENST00000355768.2_Silent_p.T94T|PER2_ENST00000254658.3_Silent_p.T94T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	94					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGCAGCCACTTGTAGATGGGT	0.378																																																0													248	263	258					2																	239185783		2203	4300	6503	SO:0001819	synonymous_variant	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.282A>G	2.37:g.239185783T>C			A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	CCDS2528.1																																																																																				0.378	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		C	239185783	T	C	239185783	2	2	322	1	0	0	0	0	0	0	0	1	11732	1799	63	3		3	PER2	2	239185783	Silent	SNP	T	TCGA-BP-4169-01A-02D-1366-10	73033319	239185783	4013590	9	18921											
TGFBR2	7048	hgsc.bcm.edu	37	3	30732950	30732950	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr3:30732950G>T	ENST00000295754.5	+	7	1945	c.1563G>T	c.(1561-1563)tgG>tgT	p.W521C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.W546C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	521	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		W -> R (in LDS2). {ECO:0000269|PubMed:20358619}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.W521*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CTGAGTGCTGGGACCACGACC	0.617																																																2	Substitution - Nonsense(2)	large_intestine(1)|breast(1)											72	63	66					3																	30732950		2203	4300	6503	SO:0001583	missense	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1563G>T	3.37:g.30732950G>T	ENSP00000295754:p.Trp521Cys		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150634	0.78001	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.65916	-0.18;-0.18	5.91	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054129	0.85682	N	0.000000	D	0.83468	0.5261	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87793	0.2620	10	0.87932	D	0	.	16.3682	0.83343	0.0:0.0:0.8671:0.1329	.	521;546	P37173;D2JYI1	TGFR2_HUMAN;.	C	521;546;351	ENSP00000295754:W521C;ENSP00000351905:W546C	ENSP00000295754:W521C	W	+	3	0	TGFBR2	30707954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	1.469000	0.48083	0.655000	0.94253	TGG		0.617	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			T	30732950	G	T	30732950	3	4	322	1	0	0	0	0	1	0	0	0	15827	1241	43	4	1668	4	TGFBR2	3	30732950	Missense_Mutation	SNP	G	TCGA-BP-4169-01A-02D-1366-10		30732950	167289480	10	18922											
SLC6A20	54716	hgsc.bcm.edu;ucsc.edu	37	3	45817396	45817396	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr3:45817396A>G	ENST00000358525.4	-	4	554	c.439T>C	c.(439-441)Tac>Cac	p.Y147H	SLC6A20_ENST00000456124.2_Missense_Mutation_p.Y147H|SLC6A20_ENST00000353278.4_Missense_Mutation_p.Y147H	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	147					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TACCAGAAGTACTGTGTGGAG	0.607																																																0													196	179	185					3																	45817396		2203	4300	6503	SO:0001583	missense	54716			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.439T>C	3.37:g.45817396A>G	ENSP00000346298:p.Tyr147His		A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.854980	0.91355	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.86606	0.5973	M	0.80982	2.52	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88332	0.2969	10	0.66056	D	0.02	.	15.5464	0.76104	1.0:0.0:0.0:0.0	.	147;147	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	H	147;147;147;100	ENSP00000296133:Y147H;ENSP00000346298:Y147H;ENSP00000404310:Y147H;ENSP00000395506:Y100H	ENSP00000296133:Y147H	Y	-	1	0	SLC6A20	45792400	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.576000	0.82467	2.059000	0.61396	0.460000	0.39030	TAC		0.607	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		G	45817396	A	G	45817396	3	3	322	1	0	0	0	0	1	0	0	0	14690	391	14	3	1371	3	SLC6A20	3	45817396	Missense_Mutation	SNP	A	TCGA-BP-4169-01A-02D-1366-10	15084446	45817396	152205034	11	18923											
KLHDC8B	200942	hgsc.bcm.edu	37	3	49210262	49210262	+	Silent	SNP	C	C	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr3:49210262C>T	ENST00000332780.2	+	2	269	c.60C>T	c.(58-60)tgC>tgT	p.C20C	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	20						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCCCACTTGCCGGGTCTATG	0.632																																																0													58	54	55					3																	49210262		2203	4300	6503	SO:0001819	synonymous_variant	200942				CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.60C>T	3.37:g.49210262C>T				Silent	SNP	ENST00000332780.2	37	CCDS2791.1																																																																																				0.632	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		T	49210262	C	T	49210262	2	4	322	1	0	0	0	0	0	0	0	1	8365	747	26	2		2	KLHDC8B	3	49210262	Silent	SNP	C	TCGA-BP-4169-01A-02D-1366-10	3392866	49210262	148812168	12	18924											
PRKCD	5580	hgsc.bcm.edu	37	3	53223226	53223226	+	Silent	SNP	C	C	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr3:53223226C>A	ENST00000394729.2	+	16	2035	c.1707C>A	c.(1705-1707)cgC>cgA	p.R569R	PRKCD_ENST00000330452.3_Silent_p.R569R	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	569	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	ATTATCCCCGCTGGATCACCA	0.607																																																0													65	58	60					3																	53223226		2203	4300	6503	SO:0001819	synonymous_variant	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1707C>A	3.37:g.53223226C>A			B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	CCDS2870.1																																																																																				0.607	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			A	53223226	C	A	53223226	2	1	322	1	0	0	0	0	0	0	0	1	12514	784	28	4		4	PRKCD	3	53223226	Silent	SNP	C	TCGA-BP-4169-01A-02D-1366-10	4012964	53223226	144799204	13	18925											
CLSTN2	64084	hgsc.bcm.edu	37	3	140140114	140140114	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr3:140140114A>G	ENST00000458420.3	+	5	975	c.785A>G	c.(784-786)cAa>cGa	p.Q262R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	262	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTGGCTGGCAAGGTGGGCCT	0.502										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)											0													134	129	131					3																	140140114		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.785A>G	3.37:g.140140114A>G	ENSP00000402460:p.Gln262Arg		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.531671	0.64972	.	.	ENSG00000158258	ENST00000458420	T	0.60548	0.18	5.7	5.7	0.88788	Cadherin (1);	0.062950	0.64402	D	0.000003	T	0.57989	0.2091	M	0.65677	2.01	0.80722	D	1	P	0.40250	0.709	B	0.40410	0.328	T	0.58973	-0.7541	10	0.34782	T	0.22	-18.1048	13.9254	0.63959	1.0:0.0:0.0:0.0	.	262	Q9H4D0	CSTN2_HUMAN	R	262	ENSP00000402460:Q262R	ENSP00000402460:Q262R	Q	+	2	0	CLSTN2	141622804	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.586000	0.90806	2.164000	0.68074	0.533000	0.62120	CAA		0.502	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		G	140140114	A	G	140140114	3	3	322	1	0	0	0	0	1	0	0	0	3564	130	5	3	803	3	CLSTN2	3	140140114	Missense_Mutation	SNP	A	TCGA-BP-4169-01A-02D-1366-10	86916888	140140114	57882316	14	18926											
BCL6	604	hgsc.bcm.edu	37	3	187447718	187447718	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr3:187447718C>A	ENST00000406870.2	-	5	841	c.475G>T	c.(475-477)Ggt>Tgt	p.G159C	RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.G159C|BCL6_ENST00000232014.4_Missense_Mutation_p.G159C	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	159					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G159S(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACCTCACGACCCCGATAGGCC	0.592			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	1	Substitution - Missense(1)	central_nervous_system(1)											69	69	69					3																	187447718		2203	4300	6503	SO:0001583	missense	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.475G>T	3.37:g.187447718C>A	ENSP00000384371:p.Gly159Cys		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929308	0.52759	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08193	3.12;3.12;3.13	5.36	2.55	0.30701	.	0.244821	0.49305	D	0.000141	T	0.11580	0.0282	L	0.36672	1.1	0.34921	D	0.748431	D;D	0.57257	0.97;0.979	B;P	0.52710	0.436;0.707	T	0.17198	-1.0377	10	0.59425	D	0.04	.	9.3147	0.37926	0.0:0.6351:0.0:0.3649	.	159;159	B8PSA7;P41182	.;BCL6_HUMAN	C	159	ENSP00000384371:G159C;ENSP00000232014:G159C;ENSP00000413122:G159C	ENSP00000232014:G159C	G	-	1	0	BCL6	188930412	0.161000	0.22892	0.941000	0.38009	0.993000	0.82548	0.469000	0.22067	0.757000	0.33036	0.561000	0.74099	GGT		0.592	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		A	187447718	C	A	187447718	3	1	322	1	0	0	0	0	1	0	0	0	1376	623	22	4	1669	4	BCL6	3	187447718	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10	47307604	187447718	10574712	15	18927											
CENPE	1062	hgsc.bcm.edu	37	4	104115562	104115562	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr4:104115562C>T	ENST00000265148.3	-	7	685	c.596G>A	c.(595-597)aGa>aAa	p.R199K	CENPE_ENST00000380026.3_Missense_Mutation_p.R199K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	199	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACGACTGCTTCTTTGATTCAT	0.313																																																0													99	103	102					4																	104115562		2203	4300	6503	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.596G>A	4.37:g.104115562C>T	ENSP00000265148:p.Arg199Lys		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172204	0.78452	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705;ENST00000514974	T;T;T;T	0.74421	-0.84;-0.84;-0.84;2.27	5.24	5.24	0.73138	Kinesin, motor domain (5);	.	.	.	.	T	0.78104	0.4231	L	0.35644	1.08	0.50632	D	0.999884	P;D	0.89917	0.956;1.0	P;D	0.87578	0.776;0.998	T	0.77024	-0.2741	9	0.45353	T	0.12	.	9.579	0.39477	0.0:0.8383:0.0:0.1617	.	199;199	Q02224-3;Q02224	.;CENPE_HUMAN	K	199;199;199;199;159	ENSP00000265148:R199K;ENSP00000369365:R199K;ENSP00000423981:R199K;ENSP00000426023:R159K	ENSP00000265148:R199K	R	-	2	0	CENPE	104335011	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.620000	0.54203	2.605000	0.88082	0.591000	0.81541	AGA		0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	104115562	C	T	104115562	3	4	322	1	0	0	0	0	1	0	0	0	3232	913	32	2	7681	2	CENPE	4	104115562	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10		104115562	87038714	16	18928											
FAT1	2195	hgsc.bcm.edu	37	4	187630234	187630234	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr4:187630234C>T	ENST00000441802.2	-	2	957	c.748G>A	c.(748-750)Gcc>Acc	p.A250T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	250	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATTCATTGGCCTGTTCGATG	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													156	155	156					4																	187630234		2181	4282	6463	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.748G>A	4.37:g.187630234C>T	ENSP00000406229:p.Ala250Thr			Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334042	0.24253	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.60672	0.17;0.17	5.04	5.04	0.67666	Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	L	0.33093	0.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59974	-0.7353	10	0.20519	T	0.43	.	18.5673	0.91121	0.0:1.0:0.0:0.0	.	250	Q14517	FAT1_HUMAN	T	250	ENSP00000406229:A250T;ENSP00000423736:A250T	ENSP00000260147:A250T	A	-	1	0	FAT1	187867228	1.000000	0.71417	0.997000	0.53966	0.103000	0.19146	3.877000	0.56123	2.613000	0.88420	0.591000	0.81541	GCC		0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		T	187630234	C	T	187630234	3	4	322	1	0	0	0	0	1	0	0	0	5691	739	26	2	13122	2	FAT1	4	187630234	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10	83514672	187630234	3524042	17	18929											
SFRS12IP1	285672	hgsc.bcm.edu	37	5	64020316	64020316	+	Missense_Mutation	SNP	T	T	G	rs80170948	byFrequency	TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr5:64020316T>G	ENST00000513458.4	-	5	530	c.363A>C	c.(361-363)aaA>aaC	p.K121N		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	121	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						atttactctttttttcttttt	0.299													T|||	72	0.014377	0.0015	0.0202	5008	,	,		17285	0.0		0.0487	False		,,,				2504	0.0072															0								T	ASN/LYS	33,4327		0,33,2147	41	35	37		363	3	1	5	dbSNP_132	37	329,8225		7,315,3955	yes	missense	SREK1IP1	NM_173829.3	94	7,348,6102	GG,GT,TT		3.8462,0.7569,2.8032	benign	121/156	64020316	362,12552	2180	4277	6457	SO:0001583	missense	285672			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"p18 splicing regulatory protein"		"SFRS12-interacting protein 1"	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.363A>C	5.37:g.64020316T>G	ENSP00000427401:p.Lys121Asn		Q32NC8	Missense_Mutation	SNP	ENST00000513458.4	37	CCDS34171.1	46	0.021062271062271064	0	0.0	9	0.024861878453038673	0	0.0	37	0.048812664907651716	T	13.49	2.254241	0.39896	0.007569	0.038462	ENSG00000153006	ENST00000513458	.	.	.	5.42	3.05	0.35203	.	0.092655	0.64402	D	0.000001	T	0.11239	0.0274	L	0.47716	1.5	0.39389	D	0.966385	B	0.26635	0.155	B	0.23716	0.048	T	0.07731	-1.0757	9	0.40728	T	0.16	0.212	6.9507	0.24544	0.0:0.1814:0.0:0.8186	.	121	Q8N9Q2	SR1IP_HUMAN	N	121	.	ENSP00000427401:K121N	K	-	3	2	SREK1IP1	64056072	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.793000	0.26944	0.386000	0.24997	0.533000	0.62120	AAA		0.299	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		G	64020316	T	G	64020316	3	3	322	1	0	0	0	0	1	0	0	0	14174	1838	64	5	108	5	SFRS12IP1	5	64020316	Missense_Mutation	SNP	T	TCGA-BP-4169-01A-02D-1366-10		64020316	116894944	18	18930											
SLC17A1	6568	hgsc.bcm.edu	37	6	25813151	25813151	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr6:25813151T>C	ENST00000244527.4	-	8	920	c.805A>G	c.(805-807)Act>Gct	p.T269A	SLC17A1_ENST00000476801.1_Missense_Mutation_p.T269A|SLC17A1_ENST00000468082.1_Intron|SLC17A1_ENST00000427328.1_Intron	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	269			T -> I (in dbSNP:rs1165196). {ECO:0000269|PubMed:7826357, ECO:0000269|PubMed:8288239}.		ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAACTACCAGTGGAAATAGCC	0.368																																																0													77	77	77					6																	25813151		2203	4300	6503	SO:0001583	missense	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.805A>G	6.37:g.25813151T>C	ENSP00000244527:p.Thr269Ala		A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	T	8.624	0.892172	0.17613	.	.	ENSG00000124568	ENST00000244527;ENST00000476801	T;T	0.56776	0.44;0.44	3.67	-7.34	0.01427	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.163280	0.02119	N	0.055446	T	0.06917	0.0176	N	0.03608	-0.345	0.09310	N	1	B	0.23377	0.084	B	0.23275	0.045	T	0.04565	-1.0942	10	0.33141	T	0.24	.	0.8209	0.01111	0.35:0.0998:0.2024:0.3478	.	269	Q14916	NPT1_HUMAN	A	269	ENSP00000244527:T269A;ENSP00000420614:T269A	ENSP00000244527:T269A	T	-	1	0	SLC17A1	25921130	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.231000	0.00548	-2.347000	0.00620	-1.137000	0.01932	ACT		0.368	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			C	25813151	T	C	25813151	3	2	322	1	0	0	0	0	1	0	0	0	14422	1696	59	3	618	3	SLC17A1	6	25813151	Missense_Mutation	SNP	T	TCGA-BP-4169-01A-02D-1366-10		25813151	145301916	19	18931											
VPS13A	23230	hgsc.bcm.edu	37	9	79933403	79933403	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr9:79933403A>G	ENST00000360280.3	+	41	5469	c.5209A>G	c.(5209-5211)Att>Gtt	p.I1737V	VPS13A_ENST00000376636.3_Missense_Mutation_p.I1698V|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.I1737V|VPS13A_ENST00000376634.4_Missense_Mutation_p.I1737V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1737					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAGGCTGGAATTGGTCATAG	0.388																																																0													77	80	79					9																	79933403		2203	4298	6501	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5209A>G	9.37:g.79933403A>G	ENSP00000353422:p.Ile1737Val		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	3.775	-0.046884	0.07407	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.4	-7.9	0.01169	.	0.469424	0.22389	N	0.060709	T	0.05823	0.0152	N	0.11789	0.175	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.001	T	0.44682	-0.9312	10	0.02654	T	1	.	20.7544	0.99720	0.2532:0.0:0.7468:0.0	.	1698;1737;1737;1737	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	1737;1698;1737;1737	ENSP00000365821:I1737V;ENSP00000365823:I1698V;ENSP00000353422:I1737V;ENSP00000349985:I1737V	ENSP00000349985:I1737V	I	+	1	0	VPS13A	79123223	0.973000	0.33851	0.611000	0.29010	0.934000	0.57294	0.554000	0.23407	-1.548000	0.01712	-0.637000	0.03976	ATT		0.388	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		G	79933403	A	G	79933403	3	3	322	1	0	0	0	0	1	0	0	0	17194	101	4	3	5371	3	VPS13A	9	79933403	Missense_Mutation	SNP	A	TCGA-BP-4169-01A-02D-1366-10		79933403	61280028	20	18932											
TBC1D2	55357	hgsc.bcm.edu;ucsc.edu	37	9	100991264	100991264	+	Silent	SNP	C	C	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr9:100991264C>T	ENST00000375064.1	-	5	986	c.948G>A	c.(946-948)ctG>ctA	p.L316L	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Silent_p.L316L|TBC1D2_ENST00000342112.5_Silent_p.L98L	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	316	Interaction with RAC1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TGGTGAGCATCAGAACCTGTT	0.547																																																0													118	105	110					9																	100991264		2203	4300	6503	SO:0001819	synonymous_variant	55357			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.948G>A	9.37:g.100991264C>T			B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37																																																																																					0.547	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		T	100991264	C	T	100991264	2	4	322	1	0	0	0	0	0	0	0	1	15613	813	29	2		2	TBC1D2	9	100991264	Silent	SNP	C	TCGA-BP-4169-01A-02D-1366-10	21057861	100991264	40222167	21	18933											
TBC1D13	54662	hgsc.bcm.edu	37	9	131570110	131570110	+	Silent	SNP	T	T	C			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr9:131570110T>C	ENST00000372648.5	+	12	1305	c.1155T>C	c.(1153-1155)gaT>gaC	p.D385D	TBC1D13_ENST00000539497.1_Silent_p.D204D|TBC1D13_ENST00000223865.8_Silent_p.D260D	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	385							Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCATCACAGATGTCTGCCAGA	0.612																																																0													109	113	112					9																	131570110		2203	4300	6503	SO:0001819	synonymous_variant	54662			AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.1155T>C	9.37:g.131570110T>C			A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Silent	SNP	ENST00000372648.5	37	CCDS6911.1																																																																																				0.612	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		C	131570110	T	C	131570110	2	2	322	1	0	0	0	0	0	0	0	1	15607	1461	51	3		3	TBC1D13	9	131570110	Silent	SNP	T	TCGA-BP-4169-01A-02D-1366-10	30578846	131570110	9643321	22	18934											
SETX	23064	hgsc.bcm.edu;ucsc.edu	37	9	135202859	135202859	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr9:135202859C>T	ENST00000224140.5	-	10	4308	c.4126G>A	c.(4126-4128)Gca>Aca	p.A1376T	SETX_ENST00000393220.1_Missense_Mutation_p.A1376T|SETX_ENST00000372169.2_Missense_Mutation_p.A1376T	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1376					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGTGACCCTGCTCTTTTAACA	0.383																																																0													115	112	113					9																	135202859		2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4126G>A	9.37:g.135202859C>T	ENSP00000224140:p.Ala1376Thr		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	1.092	-0.663698	0.03428	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86497	-2.04;-2.13;-1.74	5.75	-1.99	0.07457	.	2.300740	0.01942	N	0.041980	T	0.70815	0.3267	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.003	T	0.57636	-0.7777	10	0.19590	T	0.45	.	0.9338	0.01340	0.3034:0.2965:0.0943:0.3058	.	1376;1376;1376	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	T	1376	ENSP00000224140:A1376T;ENSP00000361242:A1376T;ENSP00000376913:A1376T	ENSP00000224140:A1376T	A	-	1	0	SETX	134192680	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.729000	0.04920	-0.399000	0.07668	-0.808000	0.03180	GCA		0.383	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		T	135202859	C	T	135202859	3	4	322	1	0	0	0	0	1	0	0	0	14147	797	28	2	3975	2	SETX	9	135202859	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10	3632749	135202859	6010572	23	18935											
ARID5B	84159	hgsc.bcm.edu;ucsc.edu	37	10	63661481	63661481	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr10:63661481T>G	ENST00000279873.7	+	1	423	c.13T>G	c.(13-15)Tca>Gca	p.S5A		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	5					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGAGCCCAACTCACTCCAGGT	0.582																																																0													134	113	120					10																	63661481		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.13T>G	10.37:g.63661481T>G	ENSP00000279873:p.Ser5Ala		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.148936	0.37923	.	.	ENSG00000150347	ENST00000279873	T	0.46451	0.87	5.55	5.55	0.83447	.	0.076399	0.53938	D	0.000043	T	0.45875	0.1364	N	0.12182	0.205	0.80722	D	1	D;B	0.61697	0.99;0.003	D;B	0.73380	0.98;0.003	T	0.48445	-0.9035	10	0.37606	T	0.19	-9.9479	14.9813	0.71313	0.0:0.0:0.0:1.0	.	5;5	Q14865-3;Q14865	.;ARI5B_HUMAN	A	5	ENSP00000279873:S5A	ENSP00000279873:S5A	S	+	1	0	ARID5B	63331487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.099000	0.64554	2.244000	0.73946	0.459000	0.35465	TCA		0.582	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		G	63661481	T	G	63661481	3	3	322	1	0	0	0	0	1	0	0	0	922	1551	54	5	15	5	ARID5B	10	63661481	Missense_Mutation	SNP	T	TCGA-BP-4169-01A-02D-1366-10		63661481	71873266	24	18936											
FAM178A	55719	hgsc.bcm.edu	37	10	102676494	102676494	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr10:102676494G>C	ENST00000238961.4	+	3	894	c.352G>C	c.(352-354)Ggt>Cgt	p.G118R	FAM178A_ENST00000370269.3_Missense_Mutation_p.G118R|FAM178A_ENST00000370271.3_Missense_Mutation_p.G118R	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	118						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.G118C(1)									TTTCATGAAAGGTGTTAAAGA	0.413																																																1	Substitution - Missense(1)	lung(1)											79	73	75					10																	102676494		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.352G>C	10.37:g.102676494G>C	ENSP00000238961:p.Gly118Arg		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648598	0.67358	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.56275	0.47;1.11;1.1	5.84	3.95	0.45737	.	0.406531	0.21640	N	0.071344	T	0.39963	0.1098	L	0.27053	0.805	0.30609	N	0.759745	B;B;B	0.32203	0.023;0.023;0.36	B;B;B	0.28553	0.027;0.044;0.091	T	0.44907	-0.9297	10	0.72032	D	0.01	-1.5955	13.8236	0.63338	0.0:0.2926:0.7074:0.0	.	118;118;118	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	R	118	ENSP00000359294:G118R;ENSP00000238961:G118R;ENSP00000359292:G118R	ENSP00000238961:G118R	G	+	1	0	FAM178A	102666484	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	2.907000	0.48743	0.780000	0.33566	0.655000	0.94253	GGT		0.413	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			C	102676494	G	C	102676494	3	2	322	1	0	0	0	0	1	0	0	0	5505	1000	35	4	362	4	FAM178A	10	102676494	Missense_Mutation	SNP	G	TCGA-BP-4169-01A-02D-1366-10	39015013	102676494	32858253	25	18937											
MICAL2	9645	hgsc.bcm.edu;ucsc.edu	37	11	12225972	12225972	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr11:12225972G>T	ENST00000256194.4	+	4	728	c.440G>T	c.(439-441)gGg>gTg	p.G147V	MICAL2_ENST00000342902.5_Missense_Mutation_p.G147V|MICAL2_ENST00000537344.1_Missense_Mutation_p.G147V|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000379612.3_Missense_Mutation_p.G147V|MICAL2_ENST00000527546.1_Missense_Mutation_p.G147V	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	147	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAGTTCTATGGGAAGTTCTGT	0.547																																																0													107	95	99					11																	12225972		2201	4294	6495	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.440G>T	11.37:g.12225972G>T	ENSP00000256194:p.Gly147Val		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071223	0.93950	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.994;0.999;1.0;1.0;0.999	T	0.45760	-0.9239	9	.	.	.	.	19.4289	0.94756	0.0:0.0:1.0:0.0	.	147;147;147;147;147;147	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	V	147	ENSP00000441689:G147V;ENSP00000256194:G147V;ENSP00000433965:G147V;ENSP00000344894:G147V;ENSP00000368932:G147V	.	G	+	2	0	MICAL2	12182548	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.835000	0.99442	2.700000	0.92200	0.563000	0.77884	GGG		0.547	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		T	12225972	G	T	12225972	3	4	322	1	0	0	0	0	1	0	0	0	9572	1232	43	4	446	4	MICAL2	11	12225972	Missense_Mutation	SNP	G	TCGA-BP-4169-01A-02D-1366-10		12225972	122780544	26	18938											
MEN1	4221	hgsc.bcm.edu;ucsc.edu	37	11	64577153	64577153	+	Silent	SNP	G	G	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr11:64577153G>A	ENST00000337652.1	-	2	932	c.429C>T	c.(427-429)ctC>ctT	p.L143L	MEN1_ENST00000377316.2_Silent_p.L143L|MEN1_ENST00000377313.1_Silent_p.L143L|MEN1_ENST00000443283.1_Silent_p.L143L|MEN1_ENST00000315422.4_Silent_p.L143L|MEN1_ENST00000394374.2_Silent_p.L143L|MEN1_ENST00000377321.1_Silent_p.L143L|MEN1_ENST00000312049.6_Silent_p.L143L|MEN1_ENST00000394376.1_Silent_p.L143L|MEN1_ENST00000377326.3_Silent_p.L143L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	143					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.Y133_L143del(2)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TGAAGCTGAAGAGGGACTGGA	0.522			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	2	Deletion - In frame(2)	parathyroid(2)											142	146	145					11																	64577153		2201	4297	6498	SO:0001819	synonymous_variant	4221	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.429C>T	11.37:g.64577153G>A			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	CCDS8083.1																																																																																				0.522	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			A	64577153	G	A	64577153	2	1	322	1	0	0	0	0	0	0	0	1	9474	929	33	2		2	MEN1	11	64577153	Silent	SNP	G	TCGA-BP-4169-01A-02D-1366-10	52351181	64577153	70429363	27	18939											
LALBA	3906	hgsc.bcm.edu;ucsc.edu	37	12	48961740	48961740	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr12:48961740T>C	ENST00000301046.2	-	4	454	c.429A>G	c.(427-429)tgA>tgG	p.*143W	LALBA_ENST00000549817.1_3'UTR	NM_002289.2	NP_002280.1	P00709	LALBA_HUMAN	lactalbumin, alpha-	0					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|lactose biosynthetic process (GO:0005989)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|lactose synthase activity (GO:0004461)			large_intestine(1)|stomach(2)	3						CAGCAGACACTCACAACTTCT	0.512																																																0													140	101	114					12																	48961740		2203	4300	6503	SO:0001578	stop_lost	3906				CCDS8765.1	12q13	2012-10-02				ENSG00000167531			6480	protein-coding gene	gene with protein product		149750					Standard	XM_006719395		Approved	LYZL7	uc001rrt.3	P00709	OTTHUMG00000170391	ENST00000301046.2:c.429A>G	12.37:g.48961740T>C	ENSP00000301046:p.*143Cysext*42		Q6FGX0|Q9UDK4	Missense_Mutation	SNP	ENST00000301046.2	37	CCDS8765.1	.	.	.	.	.	.	.	.	.	.	t	9.170	1.020904	0.19433	.	.	ENSG00000167531	ENST00000301046	.	.	.	4.88	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.046	0.25046	0.0:0.1013:0.0:0.8987	.	.	.	.	W	143	.	.	X	-	3	0	LALBA	47248007	0.358000	0.24947	0.008000	0.14137	0.142000	0.21351	2.839000	0.48207	0.899000	0.36444	0.378000	0.23410	TGA		0.512	LALBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408836.1	NM_002289		C	48961740	T	C	48961740	4	2	322	1	0	0	0	0	0	0	0	0	8606	1564	54	3	3	3	LALBA	12	48961740	Nonstop_Mutation	SNP	T	TCGA-BP-4169-01A-02D-1366-10		48961740	84890155	28	18940											
LUM	4060	hgsc.bcm.edu	37	12	91502421	91502421	+	Silent	SNP	G	G	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr12:91502421G>A	ENST00000266718.4	-	2	790	c.336C>T	c.(334-336)ttC>ttT	p.F112F	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	112					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.F112L(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCAATTTAGAGAAAACTCTCC	0.418																																																1	Substitution - Missense(1)	central_nervous_system(1)											78	81	80					12																	91502421		2203	4300	6503	SO:0001819	synonymous_variant	4060			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.336C>T	12.37:g.91502421G>A			B2R6R5|Q96QM7	Silent	SNP	ENST00000266718.4	37	CCDS9038.1																																																																																				0.418	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		A	91502421	G	A	91502421	2	1	322	1	0	0	0	0	0	0	0	1	9087	933	33	2		2	LUM	12	91502421	Silent	SNP	G	TCGA-BP-4169-01A-02D-1366-10	42540681	91502421	42349474	29	18941											
VEZT	55591	hgsc.bcm.edu;ucsc.edu	37	12	95668544	95668544	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr12:95668544A>G	ENST00000436874.1	+	7	980	c.875A>G	c.(874-876)aAt>aGt	p.N292S	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.N244S|Y_RNA_ENST00000365600.1_RNA	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	292					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GAGAGTGACAATGTAACCAAC	0.403																																																0													131	124	126					12																	95668544		1883	4105	5988	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.875A>G	12.37:g.95668544A>G	ENSP00000410083:p.Asn292Ser		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400496	0.83120	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.52057	0.68;0.68;0.68	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	L	0.52364	1.645	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.63985	-0.6513	10	0.49607	T	0.09	-30.2112	15.6518	0.77104	1.0:0.0:0.0:0.0	.	292	Q9HBM0	VEZA_HUMAN	S	292;244;248;292	ENSP00000410083:N292S;ENSP00000261219:N244S;ENSP00000380894:N248S	ENSP00000261219:N244S	N	+	2	0	VEZT	94192675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.950000	0.93019	2.099000	0.63709	0.482000	0.46254	AAT		0.403	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		G	95668544	A	G	95668544	3	3	322	1	0	0	0	0	1	0	0	0	17161	101	4	3	901	3	VEZT	12	95668544	Missense_Mutation	SNP	A	TCGA-BP-4169-01A-02D-1366-10	4166123	95668544	38183351	30	18942											
GLT8D2	83468	hgsc.bcm.edu	37	12	104387250	104387250	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr12:104387250C>T	ENST00000360814.4	-	10	1205	c.800G>A	c.(799-801)gGg>gAg	p.G267E	GLT8D2_ENST00000548660.1_Missense_Mutation_p.G267E|GLT8D2_ENST00000546436.1_Missense_Mutation_p.G267E	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	267						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GGTGGCCACCCCTCCTCCCAG	0.458																																																0													51	52	52					12																	104387250		2203	4300	6503	SO:0001583	missense	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.800G>A	12.37:g.104387250C>T	ENSP00000354053:p.Gly267Glu		Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615628	0.66672	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.40476	1.03;1.03;1.03	5.58	4.7	0.59300	.	0.094242	0.64402	N	0.000001	T	0.44180	0.1281	M	0.76170	2.325	0.80722	D	1	B	0.19331	0.035	B	0.22601	0.04	T	0.34825	-0.9813	10	0.30854	T	0.27	.	12.7766	0.57453	0.0:0.924:0.0:0.076	.	267	Q9H1C3	GL8D2_HUMAN	E	267	ENSP00000354053:G267E;ENSP00000449750:G267E;ENSP00000447450:G267E	ENSP00000354053:G267E	G	-	2	0	GLT8D2	102911380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.087000	0.71362	1.359000	0.45940	0.655000	0.94253	GGG		0.458	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		T	104387250	C	T	104387250	3	4	322	1	0	0	0	0	1	0	0	0	6472	623	22	2	257	2	GLT8D2	12	104387250	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10	8718706	104387250	29464645	31	18943											
DNAH10	196385	hgsc.bcm.edu;ucsc.edu	37	12	124416606	124416606	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr12:124416606G>C	ENST00000409039.3	+	75	12918	c.12893G>C	c.(12892-12894)gGa>gCa	p.G4298A	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron|DNAH10_ENST00000538983.1_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4298					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGTCCCTTGGAAACTGGATG	0.512																																																0													90	94	93					12																	124416606		1967	4145	6112	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12893G>C	12.37:g.124416606G>C	ENSP00000386770:p.Gly4298Ala		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329434	0.60743	.	.	ENSG00000197653	ENST00000409039	T	0.08102	3.13	5.13	5.13	0.70059	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.14098	0.0341	L	0.33485	1.01	0.80722	D	1	P	0.44659	0.84	P	0.51415	0.669	T	0.08659	-1.0711	10	0.25106	T	0.35	.	18.5666	0.91119	0.0:0.0:1.0:0.0	.	4298	Q8IVF4	DYH10_HUMAN	A	4298	ENSP00000386770:G4298A	ENSP00000386770:G4298A	G	+	2	0	DNAH10	122982559	1.000000	0.71417	0.985000	0.45067	0.936000	0.57629	6.594000	0.74104	2.551000	0.86045	0.563000	0.77884	GGA		0.512	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			C	124416606	G	C	124416606	3	2	322	1	0	0	0	0	1	0	0	0	4600	1174	41	4	13191	4	DNAH10	12	124416606	Missense_Mutation	SNP	G	TCGA-BP-4169-01A-02D-1366-10	20029356	124416606	9435289	32	18944											
F7	2155	hgsc.bcm.edu	37	13	113769996	113769996	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr13:113769996T>A	ENST00000375581.3	+	6	488	c.453T>A	c.(451-453)tgT>tgA	p.C151*	F7_ENST00000541084.1_Nonsense_Mutation_p.C82*|F7_ENST00000346342.3_Nonsense_Mutation_p.C129*	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	151	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		C -> S (in FA7D). {ECO:0000269|PubMed:11129332}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AGCTGATCTGTGTGAACGAGA	0.657																																																0													51	41	44					13																	113769996		2202	4300	6502	SO:0001587	stop_gained	2155				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.453T>A	13.37:g.113769996T>A	ENSP00000364731:p.Cys151*		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Nonsense_Mutation	SNP	ENST00000375581.3	37	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386290	0.25031	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	.	.	.	4.3	-5.6	0.02497	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2232	0.65841	0.0:0.7109:0.0:0.2891	.	.	.	.	X	129;82;151	.	ENSP00000329546:C129X	C	+	3	2	F7	112817997	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.752000	0.04797	-1.925000	0.01063	-0.964000	0.02622	TGT		0.657	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		A	113769996	T	A	113769996	4	1	322	1	0	0	0	0	0	1	0	0	5351	1702	59	5	475	5	F7	13	113769996	Nonsense_Mutation	SNP	T	TCGA-BP-4169-01A-02D-1366-10		113769996	1399882	33	18945											
OR10G3	26533	hgsc.bcm.edu	37	14	22038054	22038054	+	Silent	SNP	G	G	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr14:22038054G>A	ENST00000303532.1	-	1	821	c.822C>T	c.(820-822)gcC>gcT	p.A274A		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		TGGGGACTAGGGCAGCTGCCC	0.567																																																0													75	78	77					14																	22038054		2203	4300	6503	SO:0001819	synonymous_variant	26533				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.822C>T	14.37:g.22038054G>A			Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	CCDS32046.1																																																																																				0.567	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			A	22038054	G	A	22038054	2	1	322	1	0	0	0	0	0	0	0	1	10902	1219	43	2		2	OR10G3	14	22038054	Silent	SNP	G	TCGA-BP-4169-01A-02D-1366-10		22038054	85311486	34	18946											
CHRM5	1133	hgsc.bcm.edu;ucsc.edu	37	15	34356453	34356453	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr15:34356453G>A	ENST00000383263.5	+	3	2205	c.1535G>A	c.(1534-1536)tGc>tAc	p.C512Y	CHRM5_ENST00000557872.1_Missense_Mutation_p.C512Y	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	512					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTGCTTCTCTGCCGATGGAAA	0.463																																																0													77	82	80					15																	34356453		2201	4298	6499	SO:0001583	missense	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1535G>A	15.37:g.34356453G>A	ENSP00000372750:p.Cys512Tyr		Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790829	0.70452	.	.	ENSG00000184984	ENST00000383263	T	0.42513	0.97	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74377	-0.3685	10	0.87932	D	0	-19.4662	19.4929	0.95059	0.0:0.0:1.0:0.0	.	512	P08912	ACM5_HUMAN	Y	512	ENSP00000372750:C512Y	ENSP00000372750:C512Y	C	+	2	0	CHRM5	32143745	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.835000	0.97688	0.650000	0.86243	TGC		0.463	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			A	34356453	G	A	34356453	3	1	322	1	0	0	0	0	1	0	0	0	3382	1319	46	2	1537	2	CHRM5	15	34356453	Missense_Mutation	SNP	G	TCGA-BP-4169-01A-02D-1366-10		34356453	68174939	35	18947											
SCAPER	49855	hgsc.bcm.edu;ucsc.edu	37	15	77096926	77096926	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr15:77096926T>C	ENST00000563290.1	-	6	537	c.442A>G	c.(442-444)Att>Gtt	p.I148V	SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.I148V			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	148						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATCCAGTCAATCAATGCTTTG	0.363																																																0													123	111	115					15																	77096926		1848	4081	5929	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.442A>G	15.37:g.77096926T>C	ENSP00000454973:p.Ile148Val		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476765	0.84640	.	.	ENSG00000140386	ENST00000324767;ENST00000303521	T	0.28255	1.62	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	L	0.55213	1.73	0.54753	D	0.999981	D;P	0.63880	0.993;0.864	D;P	0.74674	0.984;0.784	T	0.49303	-0.8954	10	0.51188	T	0.08	.	15.3287	0.74190	0.0:0.0:0.0:1.0	.	148;163	Q6NSF1;Q9BY12-2	.;.	V	148;164	ENSP00000326924:I148V	ENSP00000303560:I164V	I	-	1	0	SCAPER	74883981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.624000	0.83124	2.011000	0.59026	0.528000	0.53228	ATT		0.363	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		C	77096926	T	C	77096926	3	2	322	1	0	0	0	0	1	0	0	0	13884	1435	50	3	3906	3	SCAPER	15	77096926	Missense_Mutation	SNP	T	TCGA-BP-4169-01A-02D-1366-10	42740473	77096926	25434466	36	18948											
LASS3	204219	hgsc.bcm.edu;ucsc.edu	37	15	101031104	101031104	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr15:101031104C>G	ENST00000394113.1	-	6	896	c.206G>C	c.(205-207)gGc>gCc	p.G69A	CERS3_ENST00000284382.4_Missense_Mutation_p.G69A|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.G69A			Q8IU89	CERS3_HUMAN	ceramide synthase 3	69					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CTCTTTAATGCCAAATGATTT	0.313																																																0													98	97	97					15																	101031104		2203	4300	6503	SO:0001583	missense	0				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.206G>C	15.37:g.101031104C>G	ENSP00000377672:p.Gly69Ala		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129149	0.56721	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.72051	-0.62;-0.62	5.53	5.53	0.82687	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.86310	0.5902	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88332	0.2969	10	0.87932	D	0	-14.2907	15.3311	0.74212	0.0:1.0:0.0:0.0	.	69	Q8IU89	CERS3_HUMAN	A	69;80;69	ENSP00000284382:G69A;ENSP00000437640:G69A	ENSP00000284382:G69A	G	-	2	0	CERS3	98848627	1.000000	0.71417	0.997000	0.53966	0.245000	0.25701	3.112000	0.50368	2.763000	0.94921	0.563000	0.77884	GGC		0.313	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		G	101031104	C	G	101031104	3	3	322	1	0	0	0	0	1	0	0	0	8642	739	26	4	981	4	LASS3	15	101031104	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10	23934178	101031104	1500288	37	18949											
NETO2	81831	hgsc.bcm.edu;ucsc.edu	37	16	47165915	47165915	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr16:47165915A>G	ENST00000562435.1	-	2	440	c.56T>C	c.(55-57)gTa>gCa	p.V19A	NETO2_ENST00000303155.5_Missense_Mutation_p.V19A	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	19					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CCCTTCCACTACCAGTACTGT	0.338										HNSCC(25;0.065)																																						0													221	208	212					16																	47165915		2202	4300	6502	SO:0001583	missense	81831			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.56T>C	16.37:g.47165915A>G	ENSP00000455169:p.Val19Ala		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493645	0.64186	.	.	ENSG00000171208	ENST00000303155	T	0.24538	1.85	4.94	4.94	0.65067	.	0.193063	0.44902	D	0.000408	T	0.19167	0.0460	N	0.24115	0.695	0.42323	D	0.992268	B;B	0.29037	0.092;0.231	B;B	0.24701	0.055;0.055	T	0.05338	-1.0891	10	0.62326	D	0.03	.	14.6074	0.68489	1.0:0.0:0.0:0.0	.	19;19	Q32NC3;Q8NC67	.;NETO2_HUMAN	A	19	ENSP00000306726:V19A	ENSP00000306726:V19A	V	-	2	0	NETO2	45723416	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	6.970000	0.76099	1.839000	0.53478	0.455000	0.32223	GTA		0.338	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		G	47165915	A	G	47165915	3	3	322	1	0	0	0	0	1	0	0	0	10342	391	14	3	1553	3	NETO2	16	47165915	Missense_Mutation	SNP	A	TCGA-BP-4169-01A-02D-1366-10		47165915	43188838	38	18950											
CHD9	80205	hgsc.bcm.edu	37	16	53358033	53358033	+	Silent	SNP	G	G	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr16:53358033G>A	ENST00000398510.3	+	38	8007	c.7920G>A	c.(7918-7920)aaG>aaA	p.K2640K	CHD9_ENST00000564845.1_Silent_p.K2624K|CHD9_ENST00000566029.1_Silent_p.K2624K|CHD9_ENST00000447540.1_Silent_p.K2625K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2640	Poly-Ala.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAATTGCAAAGGCCACAGCAG	0.507																																																0													100	101	101					16																	53358033		1927	4139	6066	SO:0001819	synonymous_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7920G>A	16.37:g.53358033G>A			B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																					0.507	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		A	53358033	G	A	53358033	2	1	322	1	0	0	0	0	0	0	0	1	3334	991	35	2		2	CHD9	16	53358033	Silent	SNP	G	TCGA-BP-4169-01A-02D-1366-10	6192118	53358033	36996720	39	18951											
NEURL4	84461	hgsc.bcm.edu;ucsc.edu	37	17	7224890	7224890	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr17:7224890C>G	ENST00000399464.2	-	18	3103	c.3088G>C	c.(3088-3090)Gag>Cag	p.E1030Q	NEURL4_ENST00000570460.1_Missense_Mutation_p.E1006Q|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Missense_Mutation_p.E1028Q|NEURL4_ENST00000574120.1_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1030	NHR 5. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAGCCTCTCTAGGTTCCGG	0.612																																																0													65	73	71					17																	7224890		2083	4214	6297	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3088G>C	17.37:g.7224890C>G	ENSP00000382390:p.Glu1030Gln		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581601	0.86748	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.35421	1.31;1.31	4.86	4.86	0.63082	NEUZ (2);	0.112080	0.64402	D	0.000014	T	0.50531	0.1621	M	0.66939	2.045	0.51233	D	0.999918	P;P	0.48162	0.906;0.849	P;B	0.51701	0.677;0.378	T	0.51826	-0.8656	10	0.52906	T	0.07	-26.7763	17.2714	0.87103	0.0:1.0:0.0:0.0	.	1028;1030	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	Q	1028;1030	ENSP00000319826:E1028Q;ENSP00000382390:E1030Q	ENSP00000319826:E1028Q	E	-	1	0	NEURL4	7165614	1.000000	0.71417	0.972000	0.41901	0.998000	0.95712	6.176000	0.71955	2.684000	0.91462	0.557000	0.71058	GAG		0.612	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		G	7224890	C	G	7224890	3	3	322	1	0	0	0	0	1	0	0	0	10349	922	32	4	1648	4	NEURL4	17	7224890	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10		7224890	73970320	40	18952											
KSR1	8844	hgsc.bcm.edu;ucsc.edu	37	17	25919598	25919598	+	Silent	SNP	G	G	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr17:25919598G>T	ENST00000319524.6	+	9	1245	c.1245G>T	c.(1243-1245)gtG>gtT	p.V415V	KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000268763.6_Silent_p.V278V|KSR1_ENST00000509603.2_Silent_p.V415V|KSR1_ENST00000398988.3_Silent_p.V278V			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	415					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACAACCCGGTGGACAGAGCAG	0.547																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)											0													80	78	78					17																	25919598		1903	4118	6021	SO:0001819	synonymous_variant	8844			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1245G>T	17.37:g.25919598G>T			F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37		.	.	.	.	.	.	.	.	.	.	G	10.66	1.411660	0.25465	.	.	ENSG00000141068	ENST00000398988	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1304	0.25497	0.1937:0.0:0.8063:0.0	.	.	.	.	X	151	.	.	G	+	1	0	KSR1	22943725	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.080000	0.50112	2.258000	0.74832	0.591000	0.81541	GGA		0.547	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		T	25919598	G	T	25919598	2	4	322	1	0	0	0	0	0	0	0	1	8583	1335	47	4		4	KSR1	17	25919598	Silent	SNP	G	TCGA-BP-4169-01A-02D-1366-10	18694708	25919598	55275612	41	18953											
NDUFV2	4729	hgsc.bcm.edu	37	18	9117867	9117867	+	Missense_Mutation	SNP	T	T	C	rs906807	byFrequency	TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr18:9117867T>C	ENST00000318388.6	+	2	200	c.86T>C	c.(85-87)gTt>gCt	p.V29A	NDUFV2_ENST00000400033.1_Missense_Mutation_p.V32A|RP11-143J12.3_ENST00000579467.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	29			V -> A (in dbSNP:rs906807). {ECO:0000269|PubMed:2500970}.		cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						CATAAGACAGTTATGCAAAAT	0.279													C|||	3901	0.778954	0.7368	0.8026	5008	,	,		17344	0.7063		0.831	False		,,,				2504	0.8405															0			GRCh37	CM983407	NDUFV2	M	rs906807	C	ALA/VAL	3352,1054	378.0+/-322.7	1265,822,116	59	65	63	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	86	4.7	1	18	dbSNP_86	63	7042,1552	285.9+/-297.4	2877,1288,132	yes	missense	NDUFV2	NM_021074.4	64	4142,2110,248	CC,CT,TT		18.0591,23.9219,20.0462	benign	29/250	9117867	10394,2606	2203	4297	6500	SO:0001583	missense	4729			X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.86T>C	18.37:g.9117867T>C	ENSP00000327268:p.Val29Ala		Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	CCDS11842.1	1659	0.7596153846153846	365	0.741869918699187	285	0.787292817679558	386	0.6748251748251748	623	0.8218997361477572	C	1.661	-0.511449	0.04231	0.760781	0.819409	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.42900	1.02;0.96	5.55	4.67	0.58626	.	0.361399	0.35615	N	0.003096	T	0.00012	0.0000	N	0.00465	-1.465	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.38436	-0.9661	9	0.02654	T	1	-5.223	11.8551	0.52433	0.0:0.8565:0.0:0.1435	rs906807;rs52810649;rs906807	29	P19404	NDUV2_HUMAN	A	29;32	ENSP00000327268:V29A;ENSP00000382908:V32A	ENSP00000327268:V29A	V	+	2	0	NDUFV2	9107867	1.000000	0.71417	0.974000	0.42286	0.190000	0.23558	1.537000	0.36083	1.497000	0.48584	-0.197000	0.12766	GTT		0.279	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		C	9117867	T	C	9117867	3	2	322	1	0	0	0	0	1	0	0	0	10302	1725	60	3	92	3	NDUFV2	18	9117867	Missense_Mutation	SNP	T	TCGA-BP-4169-01A-02D-1366-10		9117867	68959381	42	18954											
MAPK4	5596	hgsc.bcm.edu	37	18	48190484	48190484	+	Silent	SNP	C	C	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr18:48190484C>T	ENST00000400384.2	+	2	1192	c.156C>T	c.(154-156)gcC>gcT	p.A52A	MAPK4_ENST00000592595.1_Silent_p.A52A|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Silent_p.A52A	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	52	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.A52A(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGAAGATTGCCCTGAGCGATG	0.597																																																1	Substitution - coding silent(1)	endometrium(1)											74	81	78					18																	48190484		2157	4258	6415	SO:0001819	synonymous_variant	5596			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.156C>T	18.37:g.48190484C>T			A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	CCDS42437.1																																																																																				0.597	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		T	48190484	C	T	48190484	2	4	322	1	0	0	0	0	0	0	0	1	9282	610	22	2		2	MAPK4	18	48190484	Silent	SNP	C	TCGA-BP-4169-01A-02D-1366-10	39072617	48190484	29886764	43	18955											
MALT1	10892	hgsc.bcm.edu;ucsc.edu	37	18	56414818	56414818	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr18:56414818C>T	ENST00000348428.3	+	17	2477	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.S729F	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	740					activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TACCAGAGTTCTGCAGCCACC	0.443			T	BIRC3	MALT																																		Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0													162	154	157					18																	56414818		2203	4300	6503	SO:0001583	missense	10892				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.2219C>T	18.37:g.56414818C>T	ENSP00000319279:p.Ser740Phe		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256053	0.39896	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.11930	2.73;2.73	5.46	4.59	0.56863	.	0.630566	0.17973	N	0.155790	T	0.12050	0.0293	L	0.36672	1.1	0.09310	N	1	P;P	0.39094	0.659;0.528	B;B	0.39379	0.298;0.101	T	0.14008	-1.0488	10	0.56958	D	0.05	.	8.2724	0.31853	0.1978:0.7211:0.0:0.0811	.	729;740	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	F	740;729	ENSP00000319279:S740F;ENSP00000304161:S729F	ENSP00000304161:S729F	S	+	2	0	MALT1	54565798	0.062000	0.20869	0.015000	0.15790	0.137000	0.21094	1.226000	0.32563	2.579000	0.87056	0.650000	0.86243	TCT		0.443	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			T	56414818	C	T	56414818	3	4	322	1	0	0	0	0	1	0	0	0	9204	913	32	2	2285	2	MALT1	18	56414818	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10	8224334	56414818	21662430	44	18956											
CDH22	64405	hgsc.bcm.edu	37	20	44869833	44869833	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr20:44869833C>A	ENST00000372262.3	-	2	719	c.319G>T	c.(319-321)Ggg>Tgg	p.G107W	CDH22_ENST00000537909.1_Missense_Mutation_p.G107W	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AAGATGGTCCCAGCACCCTCG	0.612																																																0													78	66	70					20																	44869833		2203	4300	6503	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.319G>T	20.37:g.44869833C>A	ENSP00000361336:p.Gly107Trp		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955545	0.73902	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.55234	0.53;0.53	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.82181	0.4981	H	0.97340	3.985	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.88930	0.3372	10	0.87932	D	0	.	16.5845	0.84724	0.0:1.0:0.0:0.0	.	107	Q9UJ99	CAD22_HUMAN	W	107	ENSP00000361336:G107W;ENSP00000437790:G107W	ENSP00000361336:G107W	G	-	1	0	CDH22	44303240	1.000000	0.71417	0.963000	0.40424	0.955000	0.61496	5.584000	0.67490	2.475000	0.83589	0.455000	0.32223	GGG		0.612	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		A	44869833	C	A	44869833	3	1	322	1	0	0	0	0	1	0	0	0	3109	594	21	4	2207	4	CDH22	20	44869833	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10		44869833	18155687	45	18957											
CSF2RB	1439	hgsc.bcm.edu	37	22	37334375	37334375	+	Missense_Mutation	SNP	C	C	T	rs147019788	byFrequency	TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr22:37334375C>T	ENST00000403662.3	+	14	2747	c.2525C>T	c.(2524-2526)cCg>cTg	p.P842L	CSF2RB_ENST00000262825.5_Missense_Mutation_p.P848L|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P848L|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P789L			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	842					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCTTCTTCCCCGGGACCCGGT	0.627													C|||	7	0.00139776	0.0	0.0	5008	,	,		17121	0.0069		0.0	False		,,,				2504	0.0															0								C	LEU/PRO	0,4406		0,0,2203	101	122	115		2525	5.3	0.2	22	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CSF2RB	NM_000395.2	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	842/898	37334375	2,13004	2203	4300	6503	SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2525C>T	22.37:g.37334375C>T	ENSP00000384053:p.Pro842Leu		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	19.56	3.851095	0.71719	0.0	2.33E-4	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.97430	-3.83;-4.36;-4.36;-4.38	5.3	5.3	0.74995	.	0.168606	0.28488	N	0.015165	D	0.97711	0.9249	L	0.54323	1.7	0.45295	D	0.998291	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98220	1.0477	10	0.72032	D	0.01	-23.9168	14.4524	0.67394	0.0:1.0:0.0:0.0	.	848;842	P32927-2;P32927	.;IL3RB_HUMAN	L	842;842;848;848;789	ENSP00000384053:P842L;ENSP00000262825:P848L;ENSP00000385271:P848L;ENSP00000440003:P789L	ENSP00000262825:P848L	P	+	2	0	CSF2RB	35664321	0.159000	0.22864	0.238000	0.24106	0.017000	0.09413	3.724000	0.54962	2.476000	0.83614	0.650000	0.86243	CCG		0.627	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		T	37334375	C	T	37334375	3	4	322	1	0	0	0	0	1	0	0	0	3937	652	23	1	2575	1	CSF2RB	22	37334375	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10		37334375	13970191	46	18958											
CARD10	29775	hgsc.bcm.edu	37	22	37891824	37891824	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chr22:37891824C>A	ENST00000403299.1	-	15	2462	c.2246G>T	c.(2245-2247)cGg>cTg	p.R749L	CARD10_ENST00000406271.3_Missense_Mutation_p.R463L|CARD10_ENST00000251973.5_Missense_Mutation_p.R749L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	749					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGGGTCAACCCGGGTGCAGAA	0.637																																																0													56	50	52					22																	37891824		2203	4300	6503	SO:0001583	missense	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2246G>T	22.37:g.37891824C>A	ENSP00000384570:p.Arg749Leu		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076594	0.76415	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756	T;T;T;T	0.51574	0.7;2.33;0.7;1.06	4.98	4.98	0.66077	.	0.258920	0.33572	N	0.004776	T	0.68686	0.3028	M	0.75615	2.305	0.39097	D	0.961218	D;P	0.89917	1.0;0.934	D;P	0.85130	0.997;0.718	T	0.72827	-0.4175	10	0.49607	T	0.09	-35.7438	16.4258	0.83814	0.0:1.0:0.0:0.0	.	749;463	Q9BWT7;Q8NC81	CAR10_HUMAN;.	L	749;463;749;390	ENSP00000384570:R749L;ENSP00000385799:R463L;ENSP00000251973:R749L;ENSP00000416239:R390L	ENSP00000251973:R749L	R	-	2	0	CARD10	36221770	0.998000	0.40836	0.422000	0.26621	0.972000	0.66771	5.380000	0.66202	2.289000	0.77006	0.561000	0.74099	CGG		0.637	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		A	37891824	C	A	37891824	3	1	322	1	0	0	0	0	1	0	0	0	2646	652	23	4	880	4	CARD10	22	37891824	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10	557449	37891824	13412742	47	18959											
FMR1	2332	hgsc.bcm.edu;ucsc.edu	37	X	147030317	147030317	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4169-01A-02D-1366-10	TCGA-BP-4169-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c5132145-355e-49d3-b6cd-2a8ba2daaa39	658defa0-ce93-475f-978e-9494b4b619d7	g.chrX:147030317C>A	ENST00000370475.4	+	17	1980	c.1852C>A	c.(1852-1854)Cca>Aca	p.P618T	FMR1_ENST00000440235.2_Missense_Mutation_p.P248T|FMR1_ENST00000439526.2_Missense_Mutation_p.P578T|FMR1_ENST00000370470.1_Missense_Mutation_p.P576T|FMR1_ENST00000370477.1_Missense_Mutation_p.P568T|FMR1_ENST00000218200.8_Missense_Mutation_p.P597T|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000370471.3_Missense_Mutation_p.S527R	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	618	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAGAGAAGCCAGACAGCGT	0.428									Fragile X syndrome																																							0													143	122	129					X																	147030317		2203	4300	6503	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1852C>A	X.37:g.147030317C>A	ENSP00000359506:p.Pro618Thr		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.04|11.04	1.522675|1.522675	0.27211|0.27211	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235|ENST00000370471	T;T;T;T;T;T|T	0.35605|0.58940	1.36;1.43;1.36;1.41;1.3;1.68|0.3	5.61|5.61	4.52|4.52	0.55395|0.55395	.|.	0.365238|.	0.32578|.	N|.	0.005903|.	T|T	0.36110|0.36110	0.0955|0.0955	N|N	0.08118|0.08118	0|0	0.34389|0.34389	D|D	0.69401|0.69401	B;B;B;B;B|.	0.21309|.	0.002;0.054;0.0;0.0;0.0|.	B;B;B;B;B|.	0.24006|.	0.004;0.05;0.001;0.001;0.0|.	T|T	0.50524|0.50524	-0.8818|-0.8818	10|7	0.36615|0.87932	T|D	0.2|0	-2.4197|-2.4197	1.5877|1.5877	0.02647|0.02647	0.3391:0.3676:0.1655:0.1278|0.3391:0.3676:0.1655:0.1278	.|.	248;618;513;572;578|.	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0|.	.;FMR1_HUMAN;.;.;.|.	T|R	597;568;618;578;576;248|527	ENSP00000218200:P597T;ENSP00000359508:P568T;ENSP00000359506:P618T;ENSP00000395923:P578T;ENSP00000359501:P576T;ENSP00000413764:P248T|ENSP00000359502:S527R	ENSP00000218200:P597T|ENSP00000359502:S527R	P|S	+|+	1|3	0|2	FMR1|FMR1	146838009|146838009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.049000|1.049000	0.30392|0.30392	2.499000|2.499000	0.84300|0.84300	0.594000|0.594000	0.82650|0.82650	CCA|AGC		0.428	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		A	147030317	C	A	147030317	3	1	322	1	0	0	0	0	1	0	0	0	5962	739	26	4	1918	4	FMR1	23	147030317	Missense_Mutation	SNP	C	TCGA-BP-4169-01A-02D-1366-10		147030317	8240243	48	18960											
NBPF3	84224	hgsc.bcm.edu	37	1	21808126	21808126	+	Silent	SNP	G	G	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr1:21808126G>A	ENST00000318249.5	+	13	1820	c.1470G>A	c.(1468-1470)gaG>gaA	p.E490E	NBPF3_ENST00000342104.5_Silent_p.E478E|NBPF3_ENST00000318220.6_Silent_p.E434E|NBPF3_ENST00000454000.2_Silent_p.E420E	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	490	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGAGCCTGAGGACTTGCAGG	0.488																																																0													63	75	71					1																	21808126		2202	4298	6500	SO:0001819	synonymous_variant	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1470G>A	1.37:g.21808126G>A			A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	CCDS216.1																																																																																				0.488	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		A	21808126	G	A	21808126	2	1	323	1	0	0	0	0	0	0	0	1	10199	991	35	2		2	NBPF3	1	21808126	Silent	SNP	G	TCGA-BP-4170-01A-02D-1366-10		21808126	227442495	1	18961											
COL16A1	1307	hgsc.bcm.edu	37	1	32146505	32146505	+	Splice_Site	SNP	C	C	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr1:32146505C>T	ENST00000373672.3	-	39	3127		c.e39+1		COL16A1_ENST00000271069.6_Splice_Site|COL16A1_ENST00000373668.3_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.?(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTGGAACTCACCTTCTCTCCT	0.607																																					Colon(143;498 1786 21362 25193 36625)											1	Unknown(1)	ovary(1)											97	106	103					1																	32146505		1958	4147	6105	SO:0001630	splice_region_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2610+1G>A	1.37:g.32146505C>T			Q16593|Q59F89|Q71RG9	Splice_Site	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.811068	0.32053	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715;ENST00000373668	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9126	0.79482	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL16A1	31919092	1.000000	0.71417	0.998000	0.56505	0.162000	0.22319	4.336000	0.59304	2.566000	0.86566	0.643000	0.83706	.		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Intron	T	32146505	C	T	32146505	5	4	323	1	0	0	0	0	0	0	1	0	3675	521	18	2	2335	2	COL16A1	1	32146505	Splice_Site	SNP	C	TCGA-BP-4170-01A-02D-1366-10	10338379	32146505	217104116	2	18962											
KIRREL	55243	hgsc.bcm.edu;ucsc.edu	37	1	158054231	158054231	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr1:158054231G>C	ENST00000359209.6	+	4	439	c.372G>C	c.(370-372)agG>agC	p.R124S	KIRREL_ENST00000368172.1_5'Flank|KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000368173.3_Missense_Mutation_p.R124S|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000416935.2_Missense_Mutation_p.R24S			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	124	Ig-like C2-type 2.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AGGACACCAGGATTGACGGAG	0.582																																																0													59	66	64					1																	158054231		692	1591	2283	SO:0001583	missense	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.372G>C	1.37:g.158054231G>C	ENSP00000352138:p.Arg124Ser		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879455	0.33162	.	.	ENSG00000183853	ENST00000368173;ENST00000359209;ENST00000416935	D;D;D	0.85702	-2.02;-2.02;-2.02	5.34	4.23	0.50019	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.468641	0.18031	N	0.153909	T	0.62233	0.2411	N	0.11560	0.145	0.35864	D	0.827726	B;B	0.19817	0.039;0.017	B;B	0.27380	0.079;0.042	T	0.61505	-0.7049	10	0.44086	T	0.13	-13.4071	12.1787	0.54199	0.0983:0.0:0.9017:0.0	.	24;124	B4DN67;Q96J84	.;KIRR1_HUMAN	S	124;124;24	ENSP00000357155:R124S;ENSP00000352138:R124S;ENSP00000389674:R24S	ENSP00000352138:R124S	R	+	3	2	KIRREL	156320855	0.976000	0.34144	1.000000	0.80357	0.979000	0.70002	1.660000	0.37397	2.515000	0.84797	0.650000	0.86243	AGG		0.582	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		C	158054231	G	C	158054231	3	2	323	1	0	0	0	0	1	0	0	0	8326	1165	41	4	386	4	KIRREL	1	158054231	Missense_Mutation	SNP	G	TCGA-BP-4170-01A-02D-1366-10	125907726	158054231	91196390	3	18963											
CHIT1	1118	hgsc.bcm.edu;ucsc.edu	37	1	203188447	203188447	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr1:203188447C>T	ENST00000367229.1	-	9	960	c.926G>A	c.(925-927)tGg>tAg	p.W309*	CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W300*|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W290*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	309					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGCCCCCTTCCAGGAGCAGAC	0.572																																																0													87	80	82					1																	203188447		2203	4300	6503	SO:0001587	stop_gained	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.926G>A	1.37:g.203188447C>T	ENSP00000356198:p.Trp309*		B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838397	0.91117	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	5.2	3.13	0.36017	.	0.139540	0.33772	N	0.004580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.1881	9.3596	0.38188	0.1538:0.7587:0.0:0.0875	.	.	.	.	X	309;290;300	.	ENSP00000255427:W290X	W	-	2	0	CHIT1	201455070	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	1.464000	0.35288	1.179000	0.42884	0.655000	0.94253	TGG		0.572	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		T	203188447	C	T	203188447	4	4	323	1	0	0	0	0	0	1	0	0	3348	595	21	2	486	2	CHIT1	1	203188447	Nonsense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10	45134216	203188447	46062174	4	18964											
PXDN	7837	hgsc.bcm.edu;ucsc.edu	37	2	1667443	1667443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr2:1667443C>A	ENST00000252804.4	-	12	1551	c.1501G>T	c.(1501-1503)Gaa>Taa	p.E501*	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	501	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCCTGGCATTCGTACTGGCCC	0.597																																																0													88	97	94					2																	1667443		2059	4181	6240	SO:0001587	stop_gained	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1501G>T	2.37:g.1667443C>A	ENSP00000252804:p.Glu501*		A8QM65|D6W4Y0|Q4KMG2	Nonsense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	39	7.574065	0.98368	.	.	ENSG00000130508	ENST00000252804	.	.	.	5.79	5.79	0.91817	.	0.109447	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-54.0171	20.0263	0.97523	0.0:1.0:0.0:0.0	.	.	.	.	X	501	.	ENSP00000252804:E501X	E	-	1	0	PXDN	1646450	1.000000	0.71417	0.990000	0.47175	0.648000	0.38561	7.494000	0.81503	2.735000	0.93741	0.655000	0.94253	GAA		0.597	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		A	1667443	C	A	1667443	4	1	323	1	0	0	0	0	0	1	0	0	12853	893	31	4	2986	4	PXDN	2	1667443	Nonsense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10		1667443	241531930	5	18965											
SF3B1	23451	hgsc.bcm.edu	37	2	198266833	198266833	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr2:198266833T>C	ENST00000335508.6	-	15	2190	c.2099A>G	c.(2098-2100)aAa>aGa	p.K700R	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'UTR	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	700					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.Q699_K700del(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGTCCGAACTTTCTGCTGCTC	0.413			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	2	Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(2)											78	76	76					2																	198266833		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2099A>G	2.37:g.198266833T>C	ENSP00000335321:p.Lys700Arg		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	34	5.318999	0.95682	.	.	ENSG00000115524	ENST00000335508	T	0.65916	-0.18	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81678	0.4873	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83979	0.0331	10	0.59425	D	0.04	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	700	O75533	SF3B1_HUMAN	R	700	ENSP00000335321:K700R	ENSP00000335321:K700R	K	-	2	0	SF3B1	197975078	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.304000	0.77564	0.528000	0.53228	AAA		0.413	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			C	198266833	T	C	198266833	3	2	323	1	0	0	0	0	1	0	0	0	14155	1841	64	3	1859	3	SF3B1	2	198266833	Missense_Mutation	SNP	T	TCGA-BP-4170-01A-02D-1366-10	196599390	198266833	44932540	6	18966											
AOX1	316	hgsc.bcm.edu;ucsc.edu	37	2	201488671	201488671	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr2:201488671T>A	ENST00000374700.2	+	19	2330	c.2089T>A	c.(2089-2091)Tat>Aat	p.Y697N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	697					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAAGATTGTCTATCAAGACTT	0.468																																																0													197	169	179					2																	201488671		2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2089T>A	2.37:g.201488671T>A	ENSP00000363832:p.Tyr697Asn		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045166	0.75846	.	.	ENSG00000138356	ENST00000374700	T	0.27557	1.66	5.21	5.21	0.72293	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.120124	0.64402	D	0.000017	T	0.71484	0.3345	H	0.98295	4.195	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.83676	0.0169	10	0.87932	D	0	-44.4277	15.5441	0.76081	0.0:0.0:0.0:1.0	.	697	Q06278	ADO_HUMAN	N	697	ENSP00000363832:Y697N	ENSP00000363832:Y697N	Y	+	1	0	AOX1	201196916	1.000000	0.71417	0.998000	0.56505	0.510000	0.34073	7.038000	0.76537	2.317000	0.78254	0.459000	0.35465	TAT		0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		A	201488671	T	A	201488671	3	1	323	1	0	0	0	0	1	0	0	0	729	1522	53	5	2163	5	AOX1	2	201488671	Missense_Mutation	SNP	T	TCGA-BP-4170-01A-02D-1366-10	3221838	201488671	41710702	7	18967											
TRIM42	287015	hgsc.bcm.edu;ucsc.edu	37	3	140407023	140407023	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr3:140407023C>T	ENST00000286349.3	+	3	1690	c.1499C>T	c.(1498-1500)tCa>tTa	p.S500L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	500						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTACGCTCCTCAGGGGACTCC	0.567																																																0													79	75	76					3																	140407023		2203	4300	6503	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1499C>T	3.37:g.140407023C>T	ENSP00000286349:p.Ser500Leu		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497925	0.26861	.	.	ENSG00000155890	ENST00000286349	T	0.39056	1.1	5.21	4.32	0.51571	.	0.852017	0.10150	N	0.709743	T	0.21062	0.0507	N	0.08118	0	0.30810	N	0.738904	P	0.34977	0.478	B	0.27608	0.081	T	0.02691	-1.1123	10	0.39692	T	0.17	-27.9862	8.7533	0.34631	0.0:0.9017:0.0:0.0983	.	500	Q8IWZ5	TRI42_HUMAN	L	500	ENSP00000286349:S500L	ENSP00000286349:S500L	S	+	2	0	TRIM42	141889713	0.997000	0.39634	0.974000	0.42286	0.140000	0.21249	3.290000	0.51755	2.826000	0.97356	0.655000	0.94253	TCA		0.567	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		T	140407023	C	T	140407023	3	4	323	1	0	0	0	0	1	0	0	0	16522	838	29	2	1509	2	TRIM42	3	140407023	Missense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10		140407023	57615407	8	18968											
C4orf14	84273	hgsc.bcm.edu;ucsc.edu	37	4	57834621	57834621	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr4:57834621G>A	ENST00000264230.4	-	4	2813	c.1576C>T	c.(1576-1578)Cca>Tca	p.P526S		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	526					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										AAAGTTCTTGGAACAATGGAC	0.328																																																0													69	73	71					4																	57834621		2203	4300	6503	SO:0001583	missense	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1576C>T	4.37:g.57834621G>A	ENSP00000264230:p.Pro526Ser		Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428124	0.83667	.	.	ENSG00000084092	ENST00000264230	T	0.47869	0.83	5.79	4.93	0.64822	.	0.110406	0.64402	D	0.000008	T	0.73560	0.3602	M	0.90595	3.13	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.80516	-0.1348	10	0.72032	D	0.01	.	15.7323	0.77817	0.0:0.0:0.8622:0.1378	.	526	Q8NC60	CD014_HUMAN	S	526	ENSP00000264230:P526S	ENSP00000264230:P526S	P	-	1	0	C4orf14	57529378	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	8.875000	0.92372	1.391000	0.46566	0.563000	0.77884	CCA		0.328	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		A	57834621	G	A	57834621	3	1	323	1	0	0	0	0	1	0	0	0	2253	1174	41	2	536	2	C4orf14	4	57834621	Missense_Mutation	SNP	G	TCGA-BP-4170-01A-02D-1366-10		57834621	133319655	9	18969											
SULT1B1	27284	hgsc.bcm.edu	37	4	70599939	70599939	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr4:70599939T>A	ENST00000310613.3	-	5	716	c.419A>T	c.(418-420)tAt>tTt	p.Y140F		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	140					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AAAATGGTAATATGAGACTGA	0.373																																																0													31	32	31					4																	70599939		2203	4299	6502	SO:0001583	missense	27284			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.419A>T	4.37:g.70599939T>A	ENSP00000308770:p.Tyr140Phe		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796235	0.31777	.	.	ENSG00000173597	ENST00000310613;ENST00000510821	T;T	0.01767	4.65;4.65	4.52	-9.03	0.00737	Sulfotransferase domain (1);	0.752808	0.11741	N	0.534008	T	0.01421	0.0046	N	0.25060	0.705	0.33795	D	0.626001	B	0.14805	0.011	B	0.25405	0.06	T	0.38908	-0.9639	10	0.38643	T	0.18	.	13.2991	0.60315	0.73:0.0:0.0:0.27	.	140	O43704	ST1B1_HUMAN	F	140	ENSP00000308770:Y140F;ENSP00000425464:Y140F	ENSP00000308770:Y140F	Y	-	2	0	SULT1B1	70634528	0.031000	0.19500	0.939000	0.37840	0.254000	0.26022	-1.111000	0.03303	-1.205000	0.02645	0.377000	0.23210	TAT		0.373	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		A	70599939	T	A	70599939	3	1	323	1	0	0	0	0	1	0	0	0	15381	1406	49	5	487	5	SULT1B1	4	70599939	Missense_Mutation	SNP	T	TCGA-BP-4170-01A-02D-1366-10	12765318	70599939	120554337	10	18970											
ADAMTS16	170690	hgsc.bcm.edu;ucsc.edu	37	5	5187899	5187899	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr5:5187899T>A	ENST00000274181.7	+	6	1163	c.1025T>A	c.(1024-1026)cTg>cAg	p.L342Q	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L342Q	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	342	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTGTAGGTCTGATTCTTCTA	0.313																																																0													133	124	127					5																	5187899		1836	4088	5924	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1025T>A	5.37:g.5187899T>A	ENSP00000274181:p.Leu342Gln		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945309	0.73672	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.91351	-2.83;-2.83	5.13	5.13	0.70059	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.187760	0.34531	N	0.003895	D	0.96620	0.8897	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.97685	1.0175	10	0.87932	D	0	.	13.9617	0.64185	0.0:0.0:0.0:1.0	.	342;342;342	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	Q	342	ENSP00000274181:L342Q;ENSP00000421631:L342Q	ENSP00000274181:L342Q	L	+	2	0	ADAMTS16	5240899	0.998000	0.40836	0.990000	0.47175	0.774000	0.43823	7.189000	0.77747	1.948000	0.56530	0.383000	0.25322	CTG		0.313	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		A	5187899	T	A	5187899	3	1	323	1	0	0	0	0	1	0	0	0	261	1580	55	5	1047	5	ADAMTS16	5	5187899	Missense_Mutation	SNP	T	TCGA-BP-4170-01A-02D-1366-10		5187899	175727361	11	18971											
APC	324	hgsc.bcm.edu;ucsc.edu	37	5	112174812	112174812	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr5:112174812A>G	ENST00000457016.1	+	16	3901	c.3521A>G	c.(3520-3522)gAt>gGt	p.D1174G	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D1174G|APC_ENST00000508376.2_Missense_Mutation_p.D1174G			P25054	APC_HUMAN	adenomatous polyposis coli	1174	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGTCATGTGGATCAGCCTATT	0.333		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)											71	76	74					5																	112174812		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3521A>G	5.37:g.112174812A>G	ENSP00000413133:p.Asp1174Gly		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.361651	0.41801	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	5.76	5.76	0.90799	.	0.101162	0.64402	D	0.000002	D	0.88698	0.6507	N	0.19112	0.55	0.50813	D	0.999891	P;P	0.38745	0.645;0.645	B;B	0.40534	0.332;0.332	D	0.87557	0.2469	9	.	.	.	-15.6685	16.0796	0.80995	1.0:0.0:0.0:0.0	.	1176;1174	Q4LE70;P25054	.;APC_HUMAN	G	1174	ENSP00000413133:D1174G;ENSP00000257430:D1174G;ENSP00000427089:D1174G;ENSP00000423828:D1174G	.	D	+	2	0	APC	112202711	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.223000	0.89779	2.206000	0.71126	0.533000	0.62120	GAT		0.333	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112174812	A	G	112174812	3	3	323	1	0	0	0	0	1	0	0	0	763	333	12	3	3579	3	APC	5	112174812	Missense_Mutation	SNP	A	TCGA-BP-4170-01A-02D-1366-10	106986913	112174812	68740448	12	18972											
ZNF300	91975	hgsc.bcm.edu	37	5	150276155	150276155	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr5:150276155A>G	ENST00000274599.5	-	6	1066	c.646T>C	c.(646-648)Ttt>Ctt	p.F216L	ZNF300_ENST00000418587.2_Missense_Mutation_p.F180L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.F216L|ZNF300_ENST00000446148.2_Missense_Mutation_p.F232L	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACCTCCAAAACTCTGATCA	0.343																																																0													73	78	76					5																	150276155		2203	4296	6499	SO:0001583	missense	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.646T>C	5.37:g.150276155A>G	ENSP00000274599:p.Phe216Leu		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	A	6.565	0.472621	0.12461	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07114	3.29;3.3;3.22;3.3	3.04	1.84	0.25277	.	.	.	.	.	T	0.05318	0.0141	N	0.14661	0.345	0.22457	N	0.999085	P	0.42248	0.774	B	0.43331	0.416	T	0.34477	-0.9827	9	0.11182	T	0.66	.	7.8368	0.29374	0.7893:0.2107:0.0:0.0	.	216	Q96RE9	ZN300_HUMAN	L	232;216;180;216	ENSP00000397178:F232L;ENSP00000274599:F216L;ENSP00000392593:F180L;ENSP00000377773:F216L	ENSP00000274599:F216L	F	-	1	0	ZNF300	150256348	0.000000	0.05858	0.049000	0.19019	0.097000	0.18754	0.317000	0.19487	0.543000	0.28864	0.455000	0.32223	TTT		0.343	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		G	150276155	A	G	150276155	3	3	323	1	0	0	0	0	1	0	0	0	17836	14	1	3	1172	3	ZNF300	5	150276155	Missense_Mutation	SNP	A	TCGA-BP-4170-01A-02D-1366-10	38101343	150276155	30639105	13	18973											
KIAA0319	9856	hgsc.bcm.edu;ucsc.edu	37	6	24547461	24547461	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr6:24547461G>A	ENST00000378214.3	-	21	3675	c.3151C>T	c.(3151-3153)Cca>Tca	p.P1051S	KIAA0319_ENST00000543707.1_Missense_Mutation_p.P1051S|KIAA0319_ENST00000535378.1_Missense_Mutation_p.P1042S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P1006S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P990S	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1051					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GAAACCTTTGGATTCCCTCTC	0.478																																																0													211	196	201					6																	24547461		2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3151C>T	6.37:g.24547461G>A	ENSP00000367459:p.Pro1051Ser		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	1.108	-0.658918	0.03454	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.05855	3.41;3.38;3.38;3.38;3.38	4.76	-0.811	0.10857	.	0.687582	0.13146	N	0.410235	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	B;B;B	0.16603	0.018;0.018;0.01	B;B;B	0.14578	0.009;0.011;0.005	T	0.46261	-0.9204	10	0.13853	T	0.58	-0.0025	2.5836	0.04825	0.3186:0.1238:0.4327:0.1249	.	990;1042;1051	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	S	990;1042;1006;1051;1051	ENSP00000439700:P990S;ENSP00000442403:P1042S;ENSP00000401086:P1006S;ENSP00000367459:P1051S;ENSP00000437656:P1051S	ENSP00000367459:P1051S	P	-	1	0	KIAA0319	24655440	0.605000	0.26941	0.000000	0.03702	0.866000	0.49608	0.233000	0.17911	-0.054000	0.13266	0.655000	0.94253	CCA		0.478	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		A	24547461	G	A	24547461	3	1	323	1	0	0	0	0	1	0	0	0	8170	1174	41	2	71	2	KIAA0319	6	24547461	Missense_Mutation	SNP	G	TCGA-BP-4170-01A-02D-1366-10		24547461	146567606	14	18974											
NOTCH4	4855	hgsc.bcm.edu	37	6	32188642	32188642	+	Silent	SNP	T	T	C	rs520688|rs71556915	byFrequency	TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr6:32188642T>C	ENST00000375023.3	-	5	951	c.813A>G	c.(811-813)ccA>ccG	p.P271P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	271	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCTCACAGTCTGGGCCTATGA	0.607													C|||	1403	0.280152	0.2095	0.2594	5008	,	,		18868	0.2421		0.3519	False		,,,				2504	0.3558															0								C		939,3467	734.4+/-410.6	91,757,1355	94	85	88		813	-2	0	6	dbSNP_83	88	2747,5853	677.2+/-403.4	449,1849,2002	no	coding-synonymous	NOTCH4	NM_004557.3		540,2606,3357	CC,CT,TT		31.9419,21.3118,28.3408		271/2004	32188642	3686,9320	2203	4300	6503	SO:0001819	synonymous_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.813A>G	6.37:g.32188642T>C			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	CCDS34420.1																																																																																				0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			C	32188642	T	C	32188642	2	2	323	1	0	0	0	0	0	0	0	1	10553	1567	55	3		3	NOTCH4	6	32188642	Silent	SNP	T	TCGA-BP-4170-01A-02D-1366-10	7641181	32188642	138926425	15	18975											
REV3L	5980	hgsc.bcm.edu;ucsc.edu	37	6	111711296	111711296	+	Silent	SNP	G	G	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr6:111711296G>A	ENST00000358835.3	-	7	1204	c.750C>T	c.(748-750)gaC>gaT	p.D250D	REV3L_ENST00000435970.1_Silent_p.D172D|REV3L_ENST00000368805.1_Silent_p.D250D|REV3L_ENST00000368802.3_Silent_p.D250D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	250					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AACCTTCAATGTCCAGACGAT	0.378								DNA polymerases (catalytic subunits)																																								0													100	97	98					6																	111711296		2203	4300	6503	SO:0001819	synonymous_variant	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.750C>T	6.37:g.111711296G>A			O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	CCDS5091.2																																																																																				0.378	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		A	111711296	G	A	111711296	2	1	323	1	0	0	0	0	0	0	0	1	13246	1368	48	2		2	REV3L	6	111711296	Silent	SNP	G	TCGA-BP-4170-01A-02D-1366-10	79522654	111711296	59403771	16	18976											
ARHGAP18	93663	hgsc.bcm.edu	37	6	129963095	129963095	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr6:129963095A>G	ENST00000368149.2	-	2	270	c.182T>C	c.(181-183)tTt>tCt	p.F61S		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGATCGATCAAATGGAGGCTT	0.378																																																0													138	136	136					6																	129963095		2203	4300	6503	SO:0001583	missense	93663			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.182T>C	6.37:g.129963095A>G	ENSP00000357131:p.Phe61Ser			Missense_Mutation	SNP	ENST00000368149.2	37	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	A	7.514	0.655235	0.14580	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.89	3.42	0.39159	.	0.195325	0.44902	D	0.000401	T	0.31104	0.0786	M	0.80183	2.485	0.31529	N	0.661428	B;B	0.25441	0.068;0.126	B;B	0.25140	0.022;0.058	T	0.14392	-1.0474	8	.	.	.	.	5.8756	0.18826	0.5609:0.0:0.0684:0.3707	.	61;61	A9UK01;Q8N392	.;RHG18_HUMAN	S	16;61	.	.	F	-	2	0	ARHGAP18	130004788	0.843000	0.29541	0.240000	0.24138	0.027000	0.11550	2.200000	0.42724	0.434000	0.26340	-0.333000	0.08304	TTT		0.378	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		G	129963095	A	G	129963095	3	3	323	1	0	0	0	0	1	0	0	0	868	14	1	3	1865	3	ARHGAP18	6	129963095	Missense_Mutation	SNP	A	TCGA-BP-4170-01A-02D-1366-10	18251799	129963095	41151972	17	18977											
GET4	51608	hgsc.bcm.edu	37	7	925701	925701	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr7:925701C>T	ENST00000265857.3	+	2	258	c.164C>T	c.(163-165)tCc>tTc	p.S55F	GET4_ENST00000407192.1_Missense_Mutation_p.S2F|RP11-449P15.2_ENST00000609998.1_RNA	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	55					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGTACATGTCCCAGAGCAAG	0.622																																																0													80	71	74					7																	925701		2203	4299	6502	SO:0001583	missense	51608			AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"CGI-20 protein", "conserved edge protein", "transmembrane domain recognition complex, 35kDa"	612056	"chromosome 7 open reading frame 20"	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.164C>T	7.37:g.925701C>T	ENSP00000265857:p.Ser55Phe		A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.066335	0.76187	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000441491	T	0.76968	-1.06	5.06	4.18	0.49190	.	0.059629	0.64402	D	0.000001	D	0.86356	0.5913	M	0.79258	2.445	0.80722	D	1	D	0.61080	0.989	D	0.65233	0.933	D	0.87459	0.2406	10	0.62326	D	0.03	-18.6866	13.3801	0.60762	0.0:0.9233:0.0:0.0767	.	55	Q7L5D6	GET4_HUMAN	F	55;9;2;67	ENSP00000265857:S55F	ENSP00000265857:S55F	S	+	2	0	GET4	892227	1.000000	0.71417	0.978000	0.43139	0.633000	0.38033	7.505000	0.81655	1.134000	0.42165	0.558000	0.71614	TCC		0.622	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949		T	925701	C	T	925701	3	4	323	1	0	0	0	0	1	0	0	0	6338	855	30	2	170	2	GET4	7	925701	Missense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10		925701	158212962	18	18978											
AHR	196	hgsc.bcm.edu;ucsc.edu	37	7	17382681	17382681	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr7:17382681T>A	ENST00000242057.4	+	11	3183	c.2540T>A	c.(2539-2541)tTc>tAc	p.F847Y		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	847				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). {ECO:0000305}.	apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TCCAGTGGATTCCTGTAATTC	0.383																																																0													205	194	198					7																	17382681		2203	4300	6503	SO:0001583	missense	196			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2540T>A	7.37:g.17382681T>A	ENSP00000242057:p.Phe847Tyr		A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.968850	0.92855	.	.	ENSG00000106546	ENST00000242057	T	0.09073	3.02	5.37	5.37	0.77165	.	0.186934	0.48286	D	0.000193	T	0.20901	0.0503	M	0.61703	1.905	0.38662	D	0.952091	D	0.58970	0.984	P	0.54815	0.761	T	0.01256	-1.1404	10	0.66056	D	0.02	.	15.6747	0.77307	0.0:0.0:0.0:1.0	.	847	P35869	AHR_HUMAN	Y	847	ENSP00000242057:F847Y	ENSP00000242057:F847Y	F	+	2	0	AHR	17349206	1.000000	0.71417	0.971000	0.41717	0.955000	0.61496	5.505000	0.66981	2.148000	0.66965	0.482000	0.46254	TTC		0.383	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		A	17382681	T	A	17382681	3	1	323	1	0	0	0	0	1	0	0	0	416	1783	62	5	2582	5	AHR	7	17382681	Missense_Mutation	SNP	T	TCGA-BP-4170-01A-02D-1366-10	16456980	17382681	141755982	19	18979											
HERPUD2	64224	hgsc.bcm.edu	37	7	35712843	35712843	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr7:35712843C>T	ENST00000396081.1	-	2	997	c.193G>A	c.(193-195)Gat>Aat	p.D65N	HERPUD2_ENST00000311350.3_Missense_Mutation_p.D65N	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	65	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCAGATGATCGGGAAGCAGT	0.373																																																0													121	116	118					7																	35712843		2203	4300	6503	SO:0001583	missense	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.193G>A	7.37:g.35712843C>T	ENSP00000379390:p.Asp65Asn		A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055086	0.93793	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	D;D	0.82167	-1.58;-1.58	4.86	4.86	0.63082	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.90140	0.6919	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89882	0.4031	10	0.46703	T	0.11	-9.3864	18.1837	0.89786	0.0:1.0:0.0:0.0	.	65	Q9BSE4	HERP2_HUMAN	N	65	ENSP00000379390:D65N;ENSP00000310729:D65N	ENSP00000310729:D65N	D	-	1	0	HERPUD2	35679368	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	6.368000	0.73104	2.525000	0.85131	0.585000	0.79938	GAT		0.373	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		T	35712843	C	T	35712843	3	4	323	1	0	0	0	0	1	0	0	0	7066	884	31	1	1055	1	HERPUD2	7	35712843	Missense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10	18330162	35712843	123425820	20	18980											
MYO1G	64005	hgsc.bcm.edu;ucsc.edu	37	7	45011770	45011770	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr7:45011770G>A	ENST00000258787.7	-	6	809	c.673C>T	c.(673-675)Cct>Tct	p.P225S		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	225	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TATACAGCAGGGTTTCTCTCC	0.517																																																0													288	241	257					7																	45011770		2203	4300	6503	SO:0001583	missense	64005			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.673C>T	7.37:g.45011770G>A	ENSP00000258787:p.Pro225Ser		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997224	0.74818	.	.	ENSG00000136286	ENST00000258787	T	0.72505	-0.66	4.46	4.46	0.54185	Myosin head, motor domain (2);	0.000000	0.40469	N	0.001100	T	0.74764	0.3759	M	0.69358	2.11	0.58432	D	0.999999	B;P	0.47106	0.415;0.89	B;P	0.48952	0.274;0.596	T	0.75955	-0.3135	10	0.41790	T	0.15	.	15.0103	0.71545	0.0:0.0:1.0:0.0	.	225;225	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	S	225	ENSP00000258787:P225S	ENSP00000258787:P225S	P	-	1	0	MYO1G	44978295	1.000000	0.71417	0.994000	0.49952	0.841000	0.47740	4.931000	0.63469	2.458000	0.83093	0.655000	0.94253	CCT		0.517	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			A	45011770	G	A	45011770	3	1	323	1	0	0	0	0	1	0	0	0	10076	1232	43	2	2451	2	MYO1G	7	45011770	Missense_Mutation	SNP	G	TCGA-BP-4170-01A-02D-1366-10	9298927	45011770	114126893	21	18981											
CFTR	1080	hgsc.bcm.edu	37	7	117170982	117170982	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr7:117170982A>T	ENST00000003084.6	+	4	435	c.303A>T	c.(301-303)ttA>ttT	p.L101F	CFTR_ENST00000454343.1_Missense_Mutation_p.L101F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	101	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AGCCTCTCTTACTGGGAAGAA	0.393									Cystic Fibrosis																																							0			GRCh37	CI920927	CFTR	I							86	79	81					7																	117170982		2203	4300	6503	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.303A>T	7.37:g.117170982A>T	ENSP00000003084:p.Leu101Phe		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.175231	0.78564	.	.	ENSG00000001626	ENST00000446805;ENST00000003084;ENST00000454343;ENST00000426809	D;D;D;D	0.99582	-6.22;-2.64;-2.64;-3.16	5.73	-1.36	0.09085	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98102	0.9374	L	0.28458	0.855	0.46981	D	0.999273	P	0.40834	0.73	P	0.53518	0.728	D	0.94032	0.7302	10	0.30854	T	0.27	-8.3613	0.4732	0.00535	0.3288:0.1161:0.216:0.3392	.	101	P13569	CFTR_HUMAN	F	20;101;101;101	ENSP00000417012:L20F;ENSP00000003084:L101F;ENSP00000403677:L101F;ENSP00000389119:L101F	ENSP00000003084:L101F	L	+	3	2	CFTR	116958218	0.999000	0.42202	0.997000	0.53966	0.988000	0.76386	0.748000	0.26305	-0.064000	0.13043	0.454000	0.30748	TTA		0.393	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		T	117170982	A	T	117170982	3	4	323	1	0	0	0	0	1	0	0	0	3296	388	14	5	317	5	CFTR	7	117170982	Missense_Mutation	SNP	A	TCGA-BP-4170-01A-02D-1366-10	72159212	117170982	41967681	22	18982											
DUSP4	1846	hgsc.bcm.edu	37	8	29197736	29197736	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr8:29197736T>C	ENST00000240100.2	-	2	847	c.458A>G	c.(457-459)gAg>gGg	p.E153G	DUSP4_ENST00000240101.2_Missense_Mutation_p.E62G	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	153	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TTCTGGGTACTCGGAGGAAAA	0.557											OREG0018686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													23	29	27					8																	29197736		2203	4300	6503	SO:0001583	missense	1846			U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3070	protein-coding gene	gene with protein product	"VH1 homologous phosphatase 2", "MAP kinase phosphatase 2"	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.458A>G	8.37:g.29197736T>C	ENSP00000240100:p.Glu153Gly	807	B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.942711	0.73672	.	.	ENSG00000120875	ENST00000240100;ENST00000240101	T;T	0.47869	0.83;3.85	5.01	5.01	0.66863	Rhodanese-like (4);	0.045571	0.85682	D	0.000000	T	0.46756	0.1409	M	0.62723	1.935	0.58432	D	0.999997	B;B	0.17038	0.02;0.005	B;B	0.19666	0.026;0.012	T	0.44559	-0.9320	10	0.46703	T	0.11	.	13.3328	0.60497	0.0:0.0:0.0:1.0	.	153;62	Q13115;G5E930	DUS4_HUMAN;.	G	153;62	ENSP00000240100:E153G;ENSP00000240101:E62G	ENSP00000240100:E153G	E	-	2	0	DUSP4	29253655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.862000	0.62976	2.197000	0.70478	0.528000	0.53228	GAG		0.557	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		C	29197736	T	C	29197736	3	2	323	1	0	0	0	0	1	0	0	0	4829	1551	54	3	738	3	DUSP4	8	29197736	Missense_Mutation	SNP	T	TCGA-BP-4170-01A-02D-1366-10		29197736	117166286	23	18983											
RUNX1T1	862	hgsc.bcm.edu;ucsc.edu	37	8	93027007	93027007	+	Missense_Mutation	SNP	C	C	T	rs150073605	byFrequency	TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr8:93027007C>T	ENST00000523629.1	-	4	722	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	RUNX1T1_ENST00000521553.1_Missense_Mutation_p.A53T|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A63T|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A63T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A90T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A101T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A53T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A53T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A53T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	90					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGTGAGGGGGCGCCATTCAAG	0.517													C|||	4	0.000798722	0.003	0.0	5008	,	,		16997	0.0		0.0	False		,,,				2504	0.0															0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	4,4402	8.1+/-20.4	0,4,2199	51	55	53		187,268,268,268,268,268,268,187,208,301,445,187,268,157,157	6.1	1	8	dbSNP_134	53	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	RUNX1T1	NM_001198625.1,NM_001198626.1,NM_001198627.1,NM_001198628.1,NM_001198629.1,NM_001198630.1,NM_001198631.1,NM_001198632.1,NM_001198633.1,NM_001198634.1,NM_001198679.1,NM_004349.3,NM_175634.2,NM_175635.2,NM_175636.2	58,58,58,58,58,58,58,58,58,58,58,58,58,58,58	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	63/578,90/605,90/605,90/605,90/605,90/605,90/605,63/578,70/585,101/616,149/664,63/578,90/605,53/568,53/568	93027007	4,13002	2203	4300	6503	SO:0001583	missense	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.268G>A	8.37:g.93027007C>T	ENSP00000428543:p.Ala90Thr		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	CCDS6256.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	25.7	4.668744	0.88348	9.08E-4	0.0	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556;ENST00000521319;ENST00000520583;ENST00000523168;ENST00000518823;ENST00000518317;ENST00000521375	T;T;T;T;T;T;T;T;T;T;T	0.53423	1.25;1.21;1.25;1.21;1.21;1.21;1.19;1.21;0.71;0.62;1.32	6.05	6.05	0.98169	.	0.092272	0.85682	D	0.000000	T	0.61375	0.2342	L	0.49126	1.545	0.80722	D	1	P;D;P;D;P	0.65815	0.527;0.995;0.746;0.995;0.646	B;P;B;P;B	0.58391	0.086;0.838;0.132;0.838;0.178	T	0.52668	-0.8545	10	0.34782	T	0.22	-19.5656	20.6013	0.99457	0.0:1.0:0.0:0.0	.	101;101;63;90;63	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	T	90;63;90;53;53;53;101;63;53;90;53;90;53;90;90;63;53;53;90;90;63;63;90	ENSP00000428543:A90T;ENSP00000379520:A63T;ENSP00000265814:A90T;ENSP00000353504:A53T;ENSP00000390137:A53T;ENSP00000428742:A53T;ENSP00000402257:A101T;ENSP00000430728:A63T;ENSP00000429728:A53T;ENSP00000431094:A90T;ENSP00000427763:A53T	ENSP00000265814:A90T	A	-	1	0	RUNX1T1	93096183	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.878000	0.98634	0.650000	0.86243	GCC		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		T	93027007	C	T	93027007	3	4	323	1	0	0	0	0	1	0	0	0	13753	768	27	1	1582	1	RUNX1T1	8	93027007	Missense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10	63829271	93027007	53337015	24	18984											
CSMD3	114788	hgsc.bcm.edu;ucsc.edu	37	8	113326746	113326746	+	Missense_Mutation	SNP	G	G	T	rs199566824		TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr8:113326746G>T	ENST00000297405.5	-	48	7705	c.7461C>A	c.(7459-7461)agC>agA	p.S2487R	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2383R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2447R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2417R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2487	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCACTGAAATGCTCCATGCAC	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													124	118	120					8																	113326746		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7461C>A	8.37:g.113326746G>T	ENSP00000297405:p.Ser2487Arg		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672085	0.67928	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	4.98	3.19	0.36642	CUB (5);	0.436137	0.22940	N	0.053797	T	0.27454	0.0674	N	0.24115	0.695	0.31284	N	0.690293	B;B;P	0.35174	0.409;0.154;0.488	B;B;P	0.46629	0.398;0.333;0.522	T	0.26503	-1.0101	10	0.17832	T	0.49	.	10.8286	0.46647	0.1523:0.0:0.8477:0.0	.	2383;2487;2447	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2447;2487;1757;2383;2417	ENSP00000345799:S2447R;ENSP00000297405:S2487R;ENSP00000341558:S1757R;ENSP00000412263:S2383R;ENSP00000343124:S2417R	ENSP00000297405:S2487R	S	-	3	2	CSMD3	113395922	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.818000	0.27295	0.691000	0.31592	0.579000	0.79373	AGC		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113326746	G	T	113326746	3	4	323	1	0	0	0	0	1	0	0	0	3948	1310	46	4	3758	4	CSMD3	8	113326746	Missense_Mutation	SNP	G	TCGA-BP-4170-01A-02D-1366-10	20299739	113326746	33037276	25	18985											
MAPK15	225689	hgsc.bcm.edu	37	8	144801567	144801567	+	Silent	SNP	G	G	C	rs140965473	byFrequency	TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr8:144801567G>C	ENST00000338033.4	+	7	755	c.636G>C	c.(634-636)ctG>ctC	p.L212L	RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395107.4_Silent_p.L229L|MAPK15_ENST00000395108.2_Silent_p.L212L	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGAGATGCTGCGGGGGAGAC	0.647													G|||	49	0.00978435	0.0348	0.0043	5008	,	,		14712	0.0		0.0	False		,,,				2504	0.0															0								G		82,4324	69.2+/-107.0	0,82,2121	48	48	48		636	-0.5	0.6	8	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous	MAPK15	NM_139021.2		0,82,6421	CC,CG,GG		0.0,1.8611,0.6305		212/545	144801567	82,12924	2203	4300	6503	SO:0001819	synonymous_variant	225689			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.636G>C	8.37:g.144801567G>C			Q2TCF9|Q8N362	Silent	SNP	ENST00000338033.4	37	CCDS6409.2																																																																																				0.647	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		C	144801567	G	C	144801567	2	2	323	1	0	0	0	0	0	0	0	1	9279	1306	46	4		4	MAPK15	8	144801567	Silent	SNP	G	TCGA-BP-4170-01A-02D-1366-10	31474821	144801567	1562455	26	18986											
POMT1	10585	hgsc.bcm.edu	37	9	134385419	134385419	+	Silent	SNP	C	C	G			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr9:134385419C>G	ENST00000372228.3	+	8	914	c.735C>G	c.(733-735)gcC>gcG	p.A245A	POMT1_ENST00000423007.1_Intron|POMT1_ENST00000402686.3_Intron|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000354713.4_Intron	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	245					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.A245A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGAGGCCGGCCTGTATGGGGC	0.567																																																1	Substitution - coding silent(1)	large_intestine(1)											84	71	75					9																	134385419		2203	4300	6503	SO:0001819	synonymous_variant	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.735C>G	9.37:g.134385419C>G			B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	CCDS6943.1																																																																																				0.567	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		G	134385419	C	G	134385419	2	3	323	1	0	0	0	0	0	0	0	1	12247	668	24	4		4	POMT1	9	134385419	Silent	SNP	C	TCGA-BP-4170-01A-02D-1366-10		134385419	6828012	27	18987											
WDR85	92715	hgsc.bcm.edu;ucsc.edu	37	9	140449899	140449899	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr9:140449899T>G	ENST00000277540.2	-	9	1308	c.1151A>C	c.(1150-1152)aAc>aCc	p.N384T	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	384					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												CTCCCCATCGTTATCCTCTCT	0.582																																																0													148	121	130					9																	140449899		2203	4300	6503	SO:0001583	missense	92715			AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"WD repeat domain containing"	25199	protein-coding gene	gene with protein product		613210	"chromosome 9 open reading frame 112", "WD repeat domain 85"	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.1151A>C	9.37:g.140449899T>G	ENSP00000277540:p.Asn384Thr		Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	T	6.325	0.428081	0.11987	.	.	ENSG00000148399	ENST00000277540	T	0.65549	-0.16	5.23	-3.59	0.04583	.	0.914285	0.09404	N	0.806826	T	0.43634	0.1256	N	0.22421	0.69	0.09310	N	1	B	0.17038	0.02	B	0.16289	0.015	T	0.26608	-1.0098	10	0.17832	T	0.49	.	12.7874	0.57514	0.0:0.405:0.0:0.595	.	384	Q9BTV6	WDR85_HUMAN	T	384	ENSP00000277540:N384T	ENSP00000277540:N384T	N	-	2	0	WDR85	139569720	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.035000	0.13797	-1.322000	0.02278	-1.139000	0.01908	AAC		0.582	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		G	140449899	T	G	140449899	3	3	323	1	0	0	0	0	1	0	0	0	17338	1725	60	5	211	5	WDR85	9	140449899	Missense_Mutation	SNP	T	TCGA-BP-4170-01A-02D-1366-10	6064480	140449899	763532	28	18988											
KIF20B	9585	hgsc.bcm.edu	37	10	91532538	91532538	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr10:91532538A>G	ENST00000371728.3	+	32	5400	c.5335A>G	c.(5335-5337)Aaa>Gaa	p.K1779E	KIF20B_ENST00000416354.1_Missense_Mutation_p.K1809E|KIF20B_ENST00000260753.4_Missense_Mutation_p.K1739E|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1779	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGCCAAACGGAAATTATACAC	0.333																																																0													129	127	128					10																	91532538		2203	4300	6503	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5335A>G	10.37:g.91532538A>G	ENSP00000360793:p.Lys1779Glu		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	A	26.2	4.718275	0.89205	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.57907	0.37;0.37;0.37	5.91	5.91	0.95273	.	0.134947	0.33553	N	0.004795	T	0.68751	0.3035	M	0.66939	2.045	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.61940	0.664;0.896	T	0.71902	-0.4452	10	0.72032	D	0.01	-24.2707	15.3204	0.74117	1.0:0.0:0.0:0.0	.	1779;1739	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	E	1739;1809;1779	ENSP00000260753:K1739E;ENSP00000411545:K1809E;ENSP00000360793:K1779E	ENSP00000260753:K1739E	K	+	1	0	KIF20B	91522518	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.921000	0.75805	2.255000	0.74692	0.533000	0.62120	AAA		0.333	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		G	91532538	A	G	91532538	3	3	323	1	0	0	0	0	1	0	0	0	8289	247	9	3	5337	3	KIF20B	10	91532538	Missense_Mutation	SNP	A	TCGA-BP-4170-01A-02D-1366-10		91532538	44002209	29	18989											
TUBGCP2	10844	hgsc.bcm.edu;ucsc.edu	37	10	135102393	135102393	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr10:135102393C>T	ENST00000252936.3	-	9	1531	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	TUBGCP2_ENST00000417178.2_Missense_Mutation_p.V368M|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.V526M|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.V498M|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.V91M			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	498					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TCCAGCAGCACCTTGCTGGCG	0.577																																																0													170	132	145					10																	135102393		2203	4300	6503	SO:0001583	missense	10844			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1492G>A	10.37:g.135102393C>T	ENSP00000252936:p.Val498Met		B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870883	0.72065	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	N	0.20401	0.57	0.80722	D	1	B;B;B	0.25904	0.113;0.137;0.078	B;B;B	0.34346	0.113;0.18;0.18	T	0.40194	-0.9576	10	0.27785	T	0.31	-45.6486	17.6603	0.88191	0.0:1.0:0.0:0.0	.	526;526;498	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	M	498;368;498;91;526	ENSP00000252936:V498M;ENSP00000395666:V368M;ENSP00000357551:V498M;ENSP00000357550:V91M;ENSP00000446093:V526M	ENSP00000252936:V498M	V	-	1	0	TUBGCP2	134952383	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.475000	0.81041	2.595000	0.87683	0.561000	0.74099	GTG		0.577	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			T	135102393	C	T	135102393	3	4	323	1	0	0	0	0	1	0	0	0	16771	507	18	2	1252	2	TUBGCP2	10	135102393	Missense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10	43569855	135102393	432354	30	18990											
AMPD3	272	hgsc.bcm.edu;ucsc.edu	37	11	10516458	10516458	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr11:10516458T>A	ENST00000396554.3	+	8	1515	c.1174T>A	c.(1174-1176)Ttc>Atc	p.F392I	AMPD3_ENST00000444303.2_Missense_Mutation_p.F224I	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	383	Substrate binding. {ECO:0000250}.				ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCGGCAGACATTCCACCGCTT	0.542																																																0													124	121	122					11																	10516458		2201	4294	6495	SO:0001583	missense	272			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1174T>A	11.37:g.10516458T>A	ENSP00000379802:p.Phe392Ile		A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	T	33	5.219694	0.95139	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	4.81	4.81	0.61882	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.91710	0.7379	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.92936	0.6368	10	0.62326	D	0.03	-15.9671	14.3823	0.66919	0.0:0.0:0.0:1.0	.	390;383;392	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	I	224;392;383;390;383	ENSP00000396000:F224I;ENSP00000379802:F392I;ENSP00000379801:F383I;ENSP00000436987:F390I;ENSP00000431648:F383I	ENSP00000379801:F383I	F	+	1	0	AMPD3	10473034	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	1.803000	0.52742	0.402000	0.26972	TTC		0.542	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		A	10516458	T	A	10516458	3	1	323	1	0	0	0	0	1	0	0	0	587	1493	52	5	1224	5	AMPD3	11	10516458	Missense_Mutation	SNP	T	TCGA-BP-4170-01A-02D-1366-10		10516458	124490058	31	18991											
BIRC2	329	hgsc.bcm.edu;ucsc.edu	37	11	102221130	102221130	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr11:102221130G>A	ENST00000227758.2	+	2	1944	c.545G>A	c.(544-546)aGt>aAt	p.S182N	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.S161N|BIRC2_ENST00000530675.1_Missense_Mutation_p.S133N	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	182					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TATGCAATGAGTACTGAAGAA	0.408																																																0													121	118	119					11																	102221130		2203	4299	6502	SO:0001583	missense	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.545G>A	11.37:g.102221130G>A	ENSP00000227758:p.Ser182Asn		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271417	0.40194	.	.	ENSG00000110330	ENST00000532832;ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T;T	0.03982	3.74;3.74;3.74;3.74	5.92	5.92	0.95590	Baculoviral inhibition of apoptosis protein repeat (2);	0.083411	0.85682	N	0.000000	T	0.05318	0.0141	L	0.28274	0.84	0.39307	D	0.965014	B	0.06786	0.001	B	0.08055	0.003	T	0.49273	-0.8957	10	0.22706	T	0.39	-8.0298	18.5012	0.90882	0.0:0.0:1.0:0.0	.	182	Q13490	BIRC2_HUMAN	N	24;133;182;182;161	ENSP00000432410:S24N;ENSP00000431723:S133N;ENSP00000227758:S182N;ENSP00000434979:S161N	ENSP00000227758:S182N	S	+	2	0	BIRC2	101726340	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.186000	0.50942	2.809000	0.96659	0.655000	0.94253	AGT		0.408	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		A	102221130	G	A	102221130	3	1	323	1	0	0	0	0	1	0	0	0	1435	1029	36	2	547	2	BIRC2	11	102221130	Missense_Mutation	SNP	G	TCGA-BP-4170-01A-02D-1366-10	91704672	102221130	32785386	32	18992											
UBASH3B	84959	hgsc.bcm.edu;ucsc.edu	37	11	122665475	122665475	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr11:122665475G>A	ENST00000284273.5	+	7	1421	c.1046G>A	c.(1045-1047)aGg>aAg	p.R349K		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	349					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GTATTGGAGAGGCGGCCTTAT	0.502																																																0													142	146	144					11																	122665475		2202	4299	6501	SO:0001583	missense	84959			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1046G>A	11.37:g.122665475G>A	ENSP00000284273:p.Arg349Lys		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976318	0.34848	.	.	ENSG00000154127	ENST00000284273	T	0.05513	3.43	5.38	4.47	0.54385	.	0.472749	0.25272	N	0.031878	T	0.02888	0.0086	N	0.08118	0	0.28406	N	0.918426	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	10	0.02654	T	1	-11.5957	10.0755	0.42358	0.1526:0.0:0.8474:0.0	.	349	Q8TF42	UBS3B_HUMAN	K	349	ENSP00000284273:R349K	ENSP00000284273:R349K	R	+	2	0	UBASH3B	122170685	1.000000	0.71417	0.981000	0.43875	0.960000	0.62799	5.186000	0.65082	1.254000	0.44035	0.563000	0.77884	AGG		0.502	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		A	122665475	G	A	122665475	3	1	323	1	0	0	0	0	1	0	0	0	16845	1000	35	2	1072	2	UBASH3B	11	122665475	Missense_Mutation	SNP	G	TCGA-BP-4170-01A-02D-1366-10	20444345	122665475	12341041	33	18993											
ARID2	196528	hgsc.bcm.edu;ucsc.edu	37	12	46230714	46230714	+	Silent	SNP	T	T	C			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr12:46230714T>C	ENST00000334344.6	+	8	1135	c.963T>C	c.(961-963)caT>caC	p.H321H	ARID2_ENST00000422737.1_Silent_p.H172H|ARID2_ENST00000444670.1_5'Flank|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	321					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTCTGCACATAGTCATTTTA	0.368			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													160	150	154					12																	46230714		2203	4300	6503	SO:0001819	synonymous_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.963T>C	12.37:g.46230714T>C			Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	CCDS31783.1																																																																																				0.368	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		C	46230714	T	C	46230714	2	2	323	1	0	0	0	0	0	0	0	1	915	1403	49	3		3	ARID2	12	46230714	Silent	SNP	T	TCGA-BP-4170-01A-02D-1366-10		46230714	87621181	34	18994											
ELF1	1997	hgsc.bcm.edu	37	13	41517220	41517220	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr13:41517220G>T	ENST00000239882.3	-	7	988	c.674C>A	c.(673-675)cCt>cAt	p.P225H	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P201H	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	225					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GATGTATTTAGGACAAGTAGC	0.393																																																0													88	83	84					13																	41517220		2203	4300	6503	SO:0001583	missense	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.674C>A	13.37:g.41517220G>T	ENSP00000239882:p.Pro225His		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342564	0.82022	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.55588	0.51;0.51	5.76	4.92	0.64577	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.000000	0.85682	D	0.000000	T	0.72843	0.3511	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77253	-0.2656	10	0.87932	D	0	.	16.2778	0.82654	0.0:0.0:0.8664:0.1336	.	201;225	E9PDQ9;P32519	.;ELF1_HUMAN	H	201;225	ENSP00000405580:P201H;ENSP00000239882:P225H	ENSP00000239882:P225H	P	-	2	0	ELF1	40415220	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	1.425000	0.47237	-0.169000	0.13324	CCT		0.393	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		T	41517220	G	T	41517220	3	4	323	1	0	0	0	0	1	0	0	0	5055	1000	35	4	1197	4	ELF1	13	41517220	Missense_Mutation	SNP	G	TCGA-BP-4170-01A-02D-1366-10		41517220	73652658	35	18995											
DACH1	1602	hgsc.bcm.edu;ucsc.edu	37	13	72049972	72049972	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr13:72049972T>C	ENST00000359684.2	-	10	2041	c.2042A>G	c.(2041-2043)cAa>cGa	p.Q681R	DACH1_ENST00000313174.7_Missense_Mutation_p.Q481R|DACH1_ENST00000305425.4_Missense_Mutation_p.Q629R|DACH1_ENST00000354591.4_Missense_Mutation_p.Q427R			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	681	DACHbox-C.|Interaction with SIN3A. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TAGCCTCTTTTGAACTATGGC	0.323																																																0													160	139	146					13																	72049972		1831	4078	5909	SO:0001583	missense	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2042A>G	13.37:g.72049972T>C	ENSP00000352712:p.Gln681Arg		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37		.	.	.	.	.	.	.	.	.	.	T	24.2	4.499929	0.85176	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.42131	1.05;1.08;1.08;0.98	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.82193	2.58	0.32958	D	0.520586	D;D;D	0.76494	0.981;0.975;0.999	D;D;D	0.87578	0.969;0.974;0.998	T	0.79529	-0.1766	10	0.87932	D	0	-9.2294	15.6179	0.76780	0.0:0.0:0.0:1.0	.	425;479;627	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	R	629;481;427;681;681	ENSP00000304994:Q629R;ENSP00000318506:Q481R;ENSP00000346604:Q427R;ENSP00000352712:Q681R	ENSP00000304994:Q629R	Q	-	2	0	DACH1	70947973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.852000	0.86927	2.150000	0.67090	0.533000	0.62120	CAA		0.323	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		C	72049972	T	C	72049972	3	2	323	1	0	0	0	0	1	0	0	0	4222	1812	63	3	252	3	DACH1	13	72049972	Missense_Mutation	SNP	T	TCGA-BP-4170-01A-02D-1366-10	30532752	72049972	43119906	36	18996											
TEP1	7011	hgsc.bcm.edu	37	14	20864842	20864842	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr14:20864842G>T	ENST00000262715.5	-	10	1637	c.1597C>A	c.(1597-1599)Ctg>Atg	p.L533M	TEP1_ENST00000556935.1_Missense_Mutation_p.L425M	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	533	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACCCGCAGCAGGTTGCACAGG	0.552																																																0													106	91	96					14																	20864842		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1597C>A	14.37:g.20864842G>T	ENSP00000262715:p.Leu533Met		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256983	0.39896	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.23754	1.89;1.89	5.59	3.66	0.41972	TROVE (2);	0.184358	0.43260	D	0.000584	T	0.26011	0.0634	L	0.37800	1.135	0.80722	D	1	D;D	0.55172	0.958;0.97	P;P	0.55785	0.763;0.784	T	0.07654	-1.0761	10	0.27785	T	0.31	-12.3879	3.6982	0.08372	0.0832:0.1375:0.5207:0.2586	.	425;533	G3V5X7;Q99973	.;TEP1_HUMAN	M	533;533;425	ENSP00000262715:L533M;ENSP00000452574:L425M	ENSP00000262715:L533M	L	-	1	2	TEP1	19934682	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	2.113000	0.41902	1.379000	0.46325	-0.140000	0.14226	CTG		0.552	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20864842	G	T	20864842	3	4	323	1	0	0	0	0	1	0	0	0	15764	991	35	4	6470	4	TEP1	14	20864842	Missense_Mutation	SNP	G	TCGA-BP-4170-01A-02D-1366-10		20864842	86484698	37	18997											
CGRRF1	10668	hgsc.bcm.edu;ucsc.edu	37	14	54996813	54996813	+	Silent	SNP	A	A	G			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr14:54996813A>G	ENST00000216420.7	+	3	423	c.291A>G	c.(289-291)acA>acG	p.T97T	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	97					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GCCTCCTTACATGCTACTGGG	0.383																																																0													98	92	94					14																	54996813		2203	4300	6503	SO:0001819	synonymous_variant	10668			BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"RING-type (C3HC4) zinc fingers"	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.291A>G	14.37:g.54996813A>G			Q96BX2	Silent	SNP	ENST00000216420.7	37	CCDS9719.1																																																																																				0.383	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		G	54996813	A	G	54996813	2	3	323	1	0	0	0	0	0	0	0	1	3308	204	8	3		3	CGRRF1	14	54996813	Silent	SNP	A	TCGA-BP-4170-01A-02D-1366-10	34131971	54996813	52352727	38	18998											
TMEM229B	161145	hgsc.bcm.edu	37	14	67940219	67940219	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr14:67940219C>T	ENST00000557006.1	-	4	704	c.422G>A	c.(421-423)cGc>cAc	p.R141H	TMEM229B_ENST00000357461.2_Missense_Mutation_p.R141H			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	141						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAAGCGGAGGCGGAGGGTGTT	0.647																																																0													54	55	55					14																	67940219		2203	4300	6503	SO:0001583	missense	161145			AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 83"	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.422G>A	14.37:g.67940219C>T	ENSP00000451774:p.Arg141His			Missense_Mutation	SNP	ENST00000557006.1	37	CCDS9783.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327010	0.81690	.	.	ENSG00000198133	ENST00000557006;ENST00000357461	.	.	.	4.4	4.4	0.53042	.	0.174028	0.52532	D	0.000069	T	0.53546	0.1803	L	0.39397	1.21	0.80722	D	1	P	0.46064	0.872	B	0.43225	0.412	T	0.61028	-0.7145	9	0.59425	D	0.04	-19.1378	16.9889	0.86348	0.0:1.0:0.0:0.0	.	141	Q8NBD8	T229B_HUMAN	H	141	.	ENSP00000350050:R141H	R	-	2	0	TMEM229B	67009972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.001000	0.58596	0.555000	0.69702	CGC		0.647	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526		T	67940219	C	T	67940219	3	4	323	1	0	0	0	0	1	0	0	0	16153	768	27	1	85	1	TMEM229B	14	67940219	Missense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10	12943406	67940219	39409321	39	18999											
MTMR15	22909	hgsc.bcm.edu	37	15	31221493	31221493	+	Missense_Mutation	SNP	C	C	T	rs80120912	byFrequency	TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr15:31221493C>T	ENST00000362065.4	+	12	2971	c.2680C>T	c.(2680-2682)Ccc>Tcc	p.P894S	RP11-540B6.6_ENST00000602886.1_RNA|FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	894					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCATGATGCCCCCGAGGAGAG	0.617								Direct reversal of damage					C|||	40	0.00798722	0.0008	0.013	5008	,	,		13082	0.0		0.0239	False		,,,				2504	0.0061															0								C	SER/PRO	18,4386	25.3+/-52.1	0,18,2184	112	111	112		2680	-4.9	0	15	dbSNP_132	112	146,8454	70.3+/-132.9	1,144,4155	yes	missense	FAN1	NM_014967.4	74	1,162,6339	TT,TC,CC		1.6977,0.4087,1.2612	benign	894/1018	31221493	164,12840	2202	4300	6502	SO:0001583	missense	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2680C>T	15.37:g.31221493C>T	ENSP00000354497:p.Pro894Ser		A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	27	0.012362637362637362	0	0.0	5	0.013812154696132596	0	0.0	22	0.029023746701846966	C	0.006	-2.038431	0.00402	0.004087	0.016977	ENSG00000198690	ENST00000362065	T	0.79454	-1.27	5.39	-4.95	0.03048	.	0.528821	0.20907	N	0.083522	T	0.22859	0.0552	N	0.04508	-0.205	0.42132	D	0.991471	B;B	0.14438	0.01;0.005	B;B	0.17722	0.019;0.012	T	0.22906	-1.0203	10	0.07644	T	0.81	-0.2117	10.6301	0.45532	0.0:0.223:0.102:0.675	.	894;894	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	S	894	ENSP00000354497:P894S	ENSP00000354497:P894S	P	+	1	0	FAN1	29008785	0.003000	0.15002	0.001000	0.08648	0.010000	0.07245	0.139000	0.16036	-0.893000	0.03930	-0.355000	0.07637	CCC		0.617	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		T	31221493	C	T	31221493	3	4	323	1	0	0	0	0	1	0	0	0	9945	623	22	2	2747	2	MTMR15	15	31221493	Missense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10		31221493	71309899	40	19000											
PLA2G4E	123745	hgsc.bcm.edu	37	15	42292364	42292364	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr15:42292364A>G	ENST00000399518.3	-	8	1276	c.790T>C	c.(790-792)Tac>Cac	p.Y264H	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.Y235H	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	257					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TACTTGGGGTAGTGGAAGCAG	0.607																																																0													41	47	45					15																	42292364		2031	4190	6221	SO:0001583	missense	123745				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.790T>C	15.37:g.42292364A>G	ENSP00000382434:p.Tyr264His		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768180	0.69878	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.01560	4.86;4.77	5.04	5.04	0.67666	.	0.445006	0.16898	U	0.195026	T	0.09949	0.0244	M	0.81341	2.54	0.32760	N	0.5052	D	0.89917	1.0	D	0.74674	0.984	T	0.02751	-1.1115	10	0.51188	T	0.08	-27.7269	11.446	0.50123	1.0:0.0:0.0:0.0	.	235	C9JK77	.	H	264;235	ENSP00000382434:Y264H;ENSP00000413897:Y235H	ENSP00000382434:Y264H	Y	-	1	0	PLA2G4E	40079656	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	3.243000	0.51392	2.028000	0.59812	0.460000	0.39030	TAC		0.607	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		G	42292364	A	G	42292364	3	3	323	1	0	0	0	0	1	0	0	0	12007	420	15	3	1868	3	PLA2G4E	15	42292364	Missense_Mutation	SNP	A	TCGA-BP-4170-01A-02D-1366-10	11070871	42292364	60239028	41	19001											
GINS3	64785	hgsc.bcm.edu	37	16	58437163	58437163	+	Silent	SNP	C	C	T	rs186469314		TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr16:58437163C>T	ENST00000318129.5	+	2	556	c.348C>T	c.(346-348)ttC>ttT	p.F116F	GINS3_ENST00000328514.7_Intron|GINS3_ENST00000426538.2_Silent_p.F155F	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	116					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						GGCCCCATTTCTACGGGTTTG	0.522																																																0													76	67	70					16																	58437163		2198	4300	6498	SO:0001819	synonymous_variant	64785			BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.348C>T	16.37:g.58437163C>T			B2RDP3|E9PB21|Q9H870	Silent	SNP	ENST00000318129.5	37	CCDS10796.1																																																																																				0.522	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	NM_022770		T	58437163	C	T	58437163	2	4	323	1	0	0	0	0	0	0	0	1	6391	912	32	2		2	GINS3	16	58437163	Silent	SNP	C	TCGA-BP-4170-01A-02D-1366-10		58437163	31917590	42	19002											
GPR172B	55065	hgsc.bcm.edu	37	17	4937083	4937083	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr17:4937083T>G	ENST00000424747.1	-	3	1413	c.701A>C	c.(700-702)cAa>cCa	p.Q234P	SLC52A1_ENST00000512825.2_Missense_Mutation_p.Q234P|SLC52A1_ENST00000254853.5_Missense_Mutation_p.Q234P	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	234					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										GGATCCCAGTTGAAGTTCAGG	0.607																																																0													54	54	54					17																	4937083		2203	4300	6503	SO:0001583	missense	0			AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"Solute carriers"	30225	protein-coding gene	gene with protein product	"riboflavin transporter 1"	607883	"G protein-coupled receptor 172B"	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.701A>C	17.37:g.4937083T>G	ENSP00000399979:p.Gln234Pro		B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.864712	0.00547	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.75154	-0.91;-0.75;-0.91	1.11	-2.21	0.06973	.	1.322620	0.04667	N	0.410017	T	0.56352	0.1979	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.19910	-1.0291	10	0.29301	T	0.29	.	4.0816	0.09929	0.0:0.1699:0.3488:0.4813	.	234;234	F5H5Y1;Q9NWF4	.;RFT_HUMAN	P	234	ENSP00000254853:Q234P;ENSP00000443026:Q234P;ENSP00000399979:Q234P	ENSP00000254853:Q234P	Q	-	2	0	GPR172B	4877807	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.473000	0.06615	-2.971000	0.00286	-2.964000	0.00082	CAA		0.607	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		G	4937083	T	G	4937083	3	3	323	1	0	0	0	0	1	0	0	0	6672	1812	63	5	657	5	GPR172B	17	4937083	Missense_Mutation	SNP	T	TCGA-BP-4170-01A-02D-1366-10		4937083	76258127	43	19003											
PIGL	9487	hgsc.bcm.edu;ucsc.edu	37	17	16221127	16221127	+	Missense_Mutation	SNP	C	C	G	rs534716676		TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr17:16221127C>G	ENST00000225609.5	+	6	582	c.565C>G	c.(565-567)Cgc>Ggc	p.R189G	PIGL_ENST00000581006.1_Intron|PIGL_ENST00000395844.4_Missense_Mutation_p.A178G	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	189					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GAATGTGCTGCGCAAGTACAT	0.542																																																0													221	159	180					17																	16221127		2203	4300	6503	SO:0001583	missense	9487			AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"Phosphatidylinositol glycan anchor biosynthesis"	8966	protein-coding gene	gene with protein product	"N-acetylglucosaminylphosphatidylinositol deacetylase"	605947	"phosphatidylinositol glycan, class L"			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.565C>G	17.37:g.16221127C>G	ENSP00000225609:p.Arg189Gly		A8KA67|B4DYN4	Missense_Mutation	SNP	ENST00000225609.5	37	CCDS11176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.16|16.16	3.044281|3.044281	0.55110|0.55110	.|.	.|.	ENSG00000108474|ENSG00000108474	ENST00000395844|ENST00000225609	T|T	0.76709|0.01145	-1.04|5.27	6.02|6.02	5.04|5.04	0.67666|0.67666	.|Putative deacetylase LmbE-like domain (2);	.|0.047666	.|0.85682	.|D	.|0.000000	T|T	0.07369|0.07369	0.0186|0.0186	M|M	0.86343|0.86343	2.81|2.81	0.53688|0.53688	D|D	0.999972|0.999972	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.00920|0.00920	-1.1514|-1.1514	6|10	.|0.56958	.|D	.|0.05	-17.7413|-17.7413	9.9855|9.9855	0.41839|0.41839	0.1562:0.6932:0.1506:0.0|0.1562:0.6932:0.1506:0.0	.|.	.|189	.|Q9Y2B2	.|PIGL_HUMAN	G|G	178|189	ENSP00000379185:A178G|ENSP00000225609:R189G	.|ENSP00000225609:R189G	A|R	+|+	2|1	0|0	PIGL|PIGL	16161852|16161852	0.984000|0.984000	0.35163|0.35163	0.951000|0.951000	0.38953|0.38953	0.977000|0.977000	0.68977|0.68977	2.535000|2.535000	0.45685|0.45685	1.521000|1.521000	0.48983|0.48983	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.542	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			G	16221127	C	G	16221127	3	3	323	1	0	0	0	0	1	0	0	0	11893	768	27	4	587	4	PIGL	17	16221127	Missense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10	11284044	16221127	64974083	44	19004											
ZPBP2	124626	hgsc.bcm.edu;ucsc.edu	37	17	38032946	38032946	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr17:38032946C>T	ENST00000348931.4	+	8	1092	c.901C>T	c.(901-903)Cct>Tct	p.P301S	ZPBP2_ENST00000377940.3_Missense_Mutation_p.P279S|ZPBP2_ENST00000584588.1_Missense_Mutation_p.P228S	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	301					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGTTTGTAGTCCTGCGACTTT	0.373																																																0													182	174	177					17																	38032946		2203	4300	6503	SO:0001583	missense	124626			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.901C>T	17.37:g.38032946C>T	ENSP00000335384:p.Pro301Ser		A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473679	0.43942	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.67865	-0.29;-0.29	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000006	D	0.82884	0.5134	M	0.77313	2.365	0.46874	D	0.999235	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83960	0.0321	10	0.87932	D	0	-15.2584	18.189	0.89800	0.0:1.0:0.0:0.0	.	279;301	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	S	301;279	ENSP00000335384:P301S;ENSP00000367174:P279S	ENSP00000335384:P301S	P	+	1	0	ZPBP2	35286472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.583000	0.60964	2.826000	0.97356	0.655000	0.94253	CCT		0.373	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		T	38032946	C	T	38032946	3	4	323	1	0	0	0	0	1	0	0	0	18225	855	30	2	931	2	ZPBP2	17	38032946	Missense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10	21811819	38032946	43162264	45	19005											
KIF18B	146909	hgsc.bcm.edu	37	17	43011388	43011388	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr17:43011388G>A	ENST00000593135.1	-	7	1062	c.965C>T	c.(964-966)aCa>aTa	p.T322I	KIF18B_ENST00000339151.4_Missense_Mutation_p.T322I|KIF18B_ENST00000590129.1_Missense_Mutation_p.T331I|KIF18B_ENST00000438933.2_Missense_Mutation_p.T322I|KIF18B_ENST00000587309.1_Missense_Mutation_p.T322I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	331	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GATCATCACTGTGCGGCAGTT	0.627																																																0													46	48	47					17																	43011388		2141	4276	6417	SO:0001583	missense	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.965C>T	17.37:g.43011388G>A	ENSP00000465992:p.Thr322Ile		A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	G	33	5.234971	0.95207	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.76578	-1.03;-1.03	5.5	5.5	0.81552	Kinesin, motor domain (4);	0.000000	0.36591	N	0.002503	D	0.92886	0.7737	H	0.97440	4.005	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95070	0.8203	10	0.87932	D	0	.	19.4119	0.94677	0.0:0.0:1.0:0.0	.	331;331;331	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	322	ENSP00000412798:T322I;ENSP00000341466:T322I	ENSP00000341466:T322I	T	-	2	0	KIF18B	40366914	1.000000	0.71417	0.983000	0.44433	0.983000	0.72400	5.725000	0.68507	2.596000	0.87737	0.650000	0.86243	ACA		0.627	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		A	43011388	G	A	43011388	3	1	323	1	0	0	0	0	1	0	0	0	8283	1377	48	2	1641	2	KIF18B	17	43011388	Missense_Mutation	SNP	G	TCGA-BP-4170-01A-02D-1366-10	4978442	43011388	38183822	46	19006											
MPO	4353	hgsc.bcm.edu;ucsc.edu	37	17	56350802	56350802	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr17:56350802A>C	ENST00000225275.3	-	9	1770	c.1594T>G	c.(1594-1596)Ttt>Gtt	p.F532V	MPO_ENST00000340482.3_Missense_Mutation_p.F564V|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	532					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CAGGAGGCAAAAAAGACCCTG	0.612																																																0													107	111	110					17																	56350802		2203	4300	6503	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1594T>G	17.37:g.56350802A>C	ENSP00000225275:p.Phe532Val		A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926206	0.73327	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72394	-0.65;-0.65	4.27	4.27	0.50696	.	0.107034	0.64402	D	0.000004	D	0.88833	0.6544	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92132	0.5713	10	0.87932	D	0	-8.0532	12.7517	0.57312	1.0:0.0:0.0:0.0	.	532	P05164	PERM_HUMAN	V	564;532	ENSP00000344419:F564V;ENSP00000225275:F532V	ENSP00000225275:F532V	F	-	1	0	MPO	53705801	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.109000	0.94291	1.792000	0.52537	0.459000	0.35465	TTT		0.612	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			C	56350802	A	C	56350802	3	2	323	1	0	0	0	0	1	0	0	0	9734	14	1	5	659	5	MPO	17	56350802	Missense_Mutation	SNP	A	TCGA-BP-4170-01A-02D-1366-10	13339414	56350802	24844408	47	19007											
SIGLEC12	89858	hgsc.bcm.edu;ucsc.edu	37	19	52000158	52000158	+	Silent	SNP	G	G	A	rs372251299	byFrequency	TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr19:52000158G>A	ENST00000291707.3	-	7	1630	c.1575C>T	c.(1573-1575)aaC>aaT	p.N525N	SIGLEC12_ENST00000598614.1_Silent_p.N407N	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	525					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCTGACAGCGTTTGCGTCCT	0.577													N|||	3	0.000599042	0.0	0.0	5008	,	,		18943	0.0		0.0	False		,,,				2504	0.0031															0								G	,	0,4406		0,0,2203	188	137	154		1221,1575	-3.4	0	19		154	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	SIGLEC12	NM_033329.1,NM_053003.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	407/478,525/596	52000158	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1575C>T	19.37:g.52000158G>A			Q8IYH7	Silent	SNP	ENST00000291707.3	37	CCDS12833.1																																																																																				0.577	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		A	52000158	G	A	52000158	2	1	323	1	0	0	0	0	0	0	0	1	14314	1136	40	1		1	SIGLEC12	19	52000158	Silent	SNP	G	TCGA-BP-4170-01A-02D-1366-10		52000158	7128825	48	19008											
ACOT8	10005	hgsc.bcm.edu	37	20	44483907	44483907	+	Silent	SNP	G	G	T			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr20:44483907G>T	ENST00000217455.4	-	2	243	c.153C>A	c.(151-153)gcC>gcA	p.A51A	ZSWIM3_ENST00000255152.2_5'Flank|ZSWIM3_ENST00000454862.2_5'Flank	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	51					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				ACAGCCTCTTGGCCGGTACCC	0.557																																																0													101	99	99					20																	44483907		2203	4300	6503	SO:0001819	synonymous_variant	10005			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"Acyl CoA thioesterases"	15919	protein-coding gene	gene with protein product	"choloyl-CoA hydrolase"	608123	"peroxisomal acyl-CoA thioesterase", "peroxisomal acyl-CoA thioesterase 1"	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.153C>A	20.37:g.44483907G>T			O15261|Q17RX4	Silent	SNP	ENST00000217455.4	37	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.096|5.096	0.203415|0.203415	0.09704|0.09704	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000487205|ENST00000457981	.|.	.|.	.|.	5.08|5.08	1.56|1.56	0.23342|0.23342	.|.	.|.	.|.	.|.	.|.	T|T	0.34366|0.34366	0.0895|0.0895	.|.	.|.	.|.	0.28417|0.28417	N|N	0.917902|0.917902	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26849|0.26849	-1.0091|-1.0091	4|4	.|.	.|.	.|.	.|.	7.9898|7.9898	0.30233|0.30233	0.0:0.177:0.4298:0.3932|0.0:0.177:0.4298:0.3932	.|.	.|.	.|.	.|.	Q|K	6|12	.|.	.|.	P|Q	-|-	2|1	0|0	ACOT8|ACOT8	43917314|43917314	0.979000|0.979000	0.34478|0.34478	0.124000|0.124000	0.21820|0.21820	0.490000|0.490000	0.33462|0.33462	0.192000|0.192000	0.17096|0.17096	0.575000|0.575000	0.29434|0.29434	0.561000|0.561000	0.74099|0.74099	CCA|CAA		0.557	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		T	44483907	G	T	44483907	2	4	323	1	0	0	0	0	0	0	0	1	156	1335	47	4		4	ACOT8	20	44483907	Silent	SNP	G	TCGA-BP-4170-01A-02D-1366-10		44483907	18541613	49	19009											
USP18	11274	hgsc.bcm.edu	37	22	18640565	18640565	+	Silent	SNP	C	C	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chr22:18640565C>A	ENST00000215794.7	+	2	565	c.135C>A	c.(133-135)ccC>ccA	p.P45P		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	45					cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GAGAGCGTCCCAGGGCCTGGG	0.562																																																0													105	104	104					22																	18640565		2203	4300	6503	SO:0001819	synonymous_variant	11274			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.135C>A	22.37:g.18640565C>A			Q53Y90|Q6IAD9|Q9NY71	Silent	SNP	ENST00000215794.7	37	CCDS13752.1																																																																																				0.562	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			A	18640565	C	A	18640565	2	1	323	1	0	0	0	0	0	0	0	1	17054	581	21	4		4	USP18	22	18640565	Silent	SNP	C	TCGA-BP-4170-01A-02D-1366-10		18640565	32664001	50	19010											
CLDN2	9075	hgsc.bcm.edu	37	X	106171625	106171625	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chrX:106171625C>A	ENST00000541806.1	+	2	686	c.167C>A	c.(166-168)aCa>aAa	p.T56K	CLDN2_ENST00000540876.1_Missense_Mutation_p.T56K|CLDN2_ENST00000336803.1_Missense_Mutation_p.T56K	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	56					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.T56K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GAATGTGCCACACACAGCACA	0.567																																																1	Substitution - Missense(1)	ovary(1)											115	94	101					X																	106171625		2203	4300	6503	SO:0001583	missense	9075			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"Claudins"	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.167C>A	X.37:g.106171625C>A	ENSP00000441283:p.Thr56Lys		B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890862	0.52014	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.89123	-2.47;-2.47;-2.47	5.6	5.6	0.85130	Claudin, conserved site (1);	0.108239	0.64402	D	0.000006	D	0.90448	0.7009	M	0.63428	1.95	0.40844	D	0.983695	P	0.50369	0.934	P	0.51101	0.659	D	0.89377	0.3679	10	0.29301	T	0.29	.	15.8564	0.78979	0.0:1.0:0.0:0.0	.	56	P57739	CLD2_HUMAN	K	56	ENSP00000441283:T56K;ENSP00000443230:T56K;ENSP00000336571:T56K	ENSP00000336571:T56K	T	+	2	0	CLDN2	106058281	0.691000	0.27709	1.000000	0.80357	0.995000	0.86356	1.612000	0.36889	2.343000	0.79666	0.594000	0.82650	ACA		0.567	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			A	106171625	C	A	106171625	3	1	323	1	0	0	0	0	1	0	0	0	3483	478	17	4	169	4	CLDN2	23	106171625	Missense_Mutation	SNP	C	TCGA-BP-4170-01A-02D-1366-10		106171625	49098935	51	19011											
HTATSF1	27336	hgsc.bcm.edu;ucsc.edu	37	X	135581831	135581831	+	Silent	SNP	A	A	C			TCGA-BP-4170-01A-02D-1366-10	TCGA-BP-4170-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	16fcd199-55bc-4415-95cf-2a3d0b2d4b1b	021c1ab3-d01f-45ce-9fe5-ed2731e73f12	g.chrX:135581831A>C	ENST00000218364.4	+	2	435	c.261A>C	c.(259-261)gcA>gcC	p.A87A	HTATSF1_ENST00000535601.1_Silent_p.A87A	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	87					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTCTACCGCAAATGTTGAAG	0.458																																																0													125	123	123					X																	135581831		2203	4300	6503	SO:0001819	synonymous_variant	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.261A>C	X.37:g.135581831A>C			D3DWG9|Q59G06|Q99730	Silent	SNP	ENST00000218364.4	37	CCDS14657.1																																																																																				0.458	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		C	135581831	A	C	135581831	2	2	323	1	0	0	0	0	0	0	0	1	7435	117	5	5		5	HTATSF1	23	135581831	Silent	SNP	A	TCGA-BP-4170-01A-02D-1366-10	29410206	135581831	19688729	52	19012											
ASPM	259266	hgsc.bcm.edu	37	1	197055989	197055989	+	Silent	SNP	A	A	G			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr1:197055989A>G	ENST00000367409.4	-	27	10531	c.10275T>C	c.(10273-10275)tcT>tcC	p.S3425S	ASPM_ENST00000367408.1_Silent_p.S1090S|ASPM_ENST00000294732.7_Silent_p.S1840S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3425					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCTTATAGAAGAATTCTTCT	0.323																																																0													128	142	137					1																	197055989		2203	4296	6499	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.10275T>C	1.37:g.197055989A>G			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																				0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		G	197055989	A	G	197055989	2	3	324	1	0	0	0	0	0	0	0	1	1056	59	3	3		3	ASPM	1	197055989	Silent	SNP	A	TCGA-BP-4173-01A-02D-1366-10		197055989	52194632	1	19013											
KCNH1	3756	hgsc.bcm.edu	37	1	210857394	210857394	+	Silent	SNP	C	C	T			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr1:210857394C>T	ENST00000271751.4	-	11	2226	c.2199G>A	c.(2197-2199)ccG>ccA	p.P733P	KCNH1_ENST00000367007.4_Silent_p.P706P			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	733	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.P733P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CAGGGTGGTCCGGGGGCAAGA	0.582																																																1	Substitution - coding silent(1)	ovary(1)											47	50	49					1																	210857394		2203	4300	6503	SO:0001819	synonymous_variant	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2199G>A	1.37:g.210857394C>T			B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	CCDS1496.1																																																																																				0.582	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		T	210857394	C	T	210857394	2	4	324	1	0	0	0	0	0	0	0	1	8033	639	23	1		1	KCNH1	1	210857394	Silent	SNP	C	TCGA-BP-4173-01A-02D-1366-10	13801405	210857394	38393227	2	19014											
AIDA	64853	hgsc.bcm.edu	37	1	222843559	222843559	+	Missense_Mutation	SNP	T	T	A	rs200516684		TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr1:222843559T>A	ENST00000340020.6	-	9	946	c.740A>T	c.(739-741)aAg>aTg	p.K247M	AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Missense_Mutation_p.K223M|AIDA_ENST00000355727.2_Missense_Mutation_p.K165M	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	247					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTTTTTAGGCTTGTAGTGTTT	0.353																																																0													60	57	58					1																	222843559		2203	4300	6503	SO:0001583	missense	64853			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"axin interaction partner and dorsalization antagonist"	612375	"chromosome 1 open reading frame 80"	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.740A>T	1.37:g.222843559T>A	ENSP00000339161:p.Lys247Met		A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370995	0.61624	.	.	ENSG00000186063	ENST00000340020;ENST00000355727;ENST00000541237	.	.	.	5.9	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.76574	2.34	0.80722	D	1	B;B	0.18863	0.025;0.031	B;B	0.13407	0.008;0.009	T	0.65022	-0.6269	9	0.87932	D	0	.	12.5154	0.56030	0.1246:0.0:0.0:0.8754	.	223;247	F5H715;Q96BJ3	.;AIDA_HUMAN	M	247;165;223	.	ENSP00000339161:K247M	K	-	2	0	AIDA	220910182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.001000	0.63946	2.250000	0.74265	0.533000	0.62120	AAG		0.353	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831		A	222843559	T	A	222843559	3	1	324	1	0	0	0	0	1	0	0	0	423	1609	56	5	188	5	AIDA	1	222843559	Missense_Mutation	SNP	T	TCGA-BP-4173-01A-02D-1366-10	11986165	222843559	26407062	3	19015											
UPP2	151531	hgsc.bcm.edu	37	2	158958551	158958551	+	De_novo_Start_InFrame	SNP	G	G	A	rs74924675|rs11368509	byFrequency	TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr2:158958551G>A	ENST00000005756.4	+	0	170				UPP2_ENST00000605860.1_Splice_Site|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Splice_Site	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2						nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	ATCAATTTAAGGTGACTTTTC	0.353																																																0													120	128	125					2																	158958551		2203	4300	6503			151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969		2.37:g.158958551G>A			B3KV87	Splice_Site	SNP	ENST00000005756.4	37	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.867212	0.00547	.	.	ENSG00000007001	ENST00000409859	.	.	.	4.09	-0.109	0.13584	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7486	0.13049	0.2047:0.3414:0.4538:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UPP2	158666797	0.706000	0.27856	0.000000	0.03702	0.000000	0.00434	0.714000	0.25808	-0.270000	0.09285	-0.844000	0.03045	.		0.353	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		A	158958551	G	A	158958551	1	1	324	1	0	1	0	0	0	0	0	0	17018	1014	35	2		2	UPP2	2	158958551	De_novo_Start_InFrame	SNP	G	TCGA-BP-4173-01A-02D-1366-10		158958551	84240822	4	19016											
NCR2	9436	hgsc.bcm.edu	37	6	41304036	41304036	+	Silent	SNP	T	T	C			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr6:41304036T>C	ENST00000373089.5	+	2	352	c.264T>C	c.(262-264)gaT>gaC	p.D88D	NCR2_ENST00000373086.3_Silent_p.D88D|NCR2_ENST00000373083.4_Silent_p.D88D	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	88	Ig-like.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACGACCCTGATGCTGGCTTCT	0.512																																																0													80	75	77					6																	41304036		2203	4300	6503	SO:0001819	synonymous_variant	9436			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	6732	protein-coding gene	gene with protein product		604531	"lymphocyte antigen 95 (activating NK-receptor; NK-p44)"	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.264T>C	6.37:g.41304036T>C			Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Silent	SNP	ENST00000373089.5	37	CCDS4855.1																																																																																				0.512	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			C	41304036	T	C	41304036	2	2	324	1	0	0	0	0	0	0	0	1	10240	1461	51	3		3	NCR2	6	41304036	Silent	SNP	T	TCGA-BP-4173-01A-02D-1366-10		41304036	129811031	5	19017											
GRM8	2918	hgsc.bcm.edu	37	7	126173363	126173363	+	Silent	SNP	A	A	G			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr7:126173363A>G	ENST00000339582.2	-	9	2881	c.2073T>C	c.(2071-2073)agT>agC	p.S691S	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.S691S|GRM8_ENST00000358373.3_Silent_p.S691S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	691					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAGATGCTGGACTAATGAACT	0.498										HNSCC(24;0.065)																																						0													95	79	84					7																	126173363		2203	4300	6503	SO:0001819	synonymous_variant	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2073T>C	7.37:g.126173363A>G			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				0.498	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			G	126173363	A	G	126173363	2	3	324	1	0	0	0	0	0	0	0	1	6805	272	10	3		3	GRM8	7	126173363	Silent	SNP	A	TCGA-BP-4173-01A-02D-1366-10		126173363	32965300	6	19018											
KRT4	3851	hgsc.bcm.edu	37	12	53207990	53207990	+	Silent	SNP	G	G	A			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr12:53207990G>A	ENST00000293774.4	-	1	345	c.75C>T	c.(73-75)ccC>ccT	p.P25P	KRT4_ENST00000458244.2_5'Flank|KRT4_ENST00000551956.1_5'UTR			P19013	K2C4_HUMAN	keratin 4	0	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AAACATCTCTGGGCTTGGCCC	0.557																																					Pancreas(190;284 2995 41444 45903)											0													59	64	63					12																	53207990		1916	4112	6028	SO:0001819	synonymous_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000293774.4:c.75C>T	12.37:g.53207990G>A			F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000293774.4	37																																																																																					0.557	KRT4-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002272		A	53207990	G	A	53207990	2	1	324	1	0	0	0	0	0	0	0	1	8479	1335	47	2		2	KRT4	12	53207990	Silent	SNP	G	TCGA-BP-4173-01A-02D-1366-10		53207990	80643905	7	19019											
OR6C1	390321	hgsc.bcm.edu	37	12	55714409	55714410	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr12:55714409_55714410insG	ENST00000379668.2	+	1	64_65	c.26_27insG	c.(25-30)gagtttfs	p.F10fs		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GAAATAACAGAGTTTATTCTTC	0.396																																																0																																										SO:0001589	frameshift_variant	390321			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.27dupG	12.37:g.55714410_55714410dupG	ENSP00000368990:p.Phe10fs		B2RNM0	Frame_Shift_Ins	INS	ENST00000379668.2	37	CCDS31818.1																																																																																				0.396	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		G	55714410	-	G	55714409	7	5	324	1	0	1	1	0	0	0	0	0	11192	304	11	0	28	0	OR6C1	12	55714409	Frame_Shift_Ins	INS	-	TCGA-BP-4173-01A-02D-1366-10	2506419	55714409	78137486	8	19020											
SLC12A1	6557	hgsc.bcm.edu;ucsc.edu	37	15	48521422	48521422	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr15:48521422C>T	ENST00000558405.1	+	5	775	c.761C>T	c.(760-762)cCc>cTc	p.P254L	SLC12A1_ENST00000380993.3_Missense_Mutation_p.P254L|SLC12A1_ENST00000396577.3_Missense_Mutation_p.P254L|SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000330289.6_Missense_Mutation_p.P254L			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	254					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGTTTAGGGCCCGAGTTCGGT	0.423																																																0													136	120	126					15																	48521422		2198	4297	6495	SO:0001583	missense	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.761C>T	15.37:g.48521422C>T	ENSP00000453409:p.Pro254Leu		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	35	5.597554	0.96602	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.99070	-5.39;-5.39;-5.39	6.08	6.08	0.98989	Amino acid permease domain (1);	0.051256	0.85682	N	0.000000	D	0.99366	0.9777	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.999	D	0.99482	1.0948	10	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	254;254;254	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	L	67;254;254;254	ENSP00000370381:P254L;ENSP00000379822:P254L;ENSP00000331550:P254L	ENSP00000331550:P254L	P	+	2	0	SLC12A1	46308714	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	CCC		0.423	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			T	48521422	C	T	48521422	3	4	324	1	0	0	0	0	1	0	0	0	14388	623	22	2	879	2	SLC12A1	15	48521422	Missense_Mutation	SNP	C	TCGA-BP-4173-01A-02D-1366-10		48521422	54009970	9	19021											
NLRC3	197358	hgsc.bcm.edu	37	16	3614350	3614350	+	RNA	SNP	C	C	T			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr16:3614350C>T	ENST00000301749.7	-	0	993				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S243S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGGGAAGACCGAGCAGATGA	0.657																																																1	Substitution - coding silent(1)	pancreas(1)											35	41	39					16																	3614350		2029	4185	6214			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614350C>T			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	37																																																																																					0.657	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		T	3614350	C	T	3614350	1	4	324	0	1	0	0	0	0	0	0	0	10470	639	23	1		1	NLRC3	16	3614350	RNA	SNP	C	TCGA-BP-4173-01A-02D-1366-10		3614350	86740403	10	19022											
RABEP2	79874	hgsc.bcm.edu	37	16	28922429	28922429	+	Silent	SNP	C	C	T			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr16:28922429C>T	ENST00000358201.4	-	6	1554	c.966G>A	c.(964-966)cgG>cgA	p.R322R	RABEP2_ENST00000357573.6_Intron|RABEP2_ENST00000544477.1_Silent_p.R251R	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	322					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCATTGCTCCGTCTCAGGC	0.672																																					Pancreas(66;639 1284 10093 31061 49099)											0													55	67	63					16																	28922429		2146	4244	6390	SO:0001819	synonymous_variant	79874			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.966G>A	16.37:g.28922429C>T				Silent	SNP	ENST00000358201.4	37	CCDS42140.1																																																																																				0.672	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		T	28922429	C	T	28922429	2	4	324	1	0	0	0	0	0	0	0	1	12968	842	30	2		2	RABEP2	16	28922429	Silent	SNP	C	TCGA-BP-4173-01A-02D-1366-10	25308079	28922429	61432324	11	19023											
TEX2	55852	hgsc.bcm.edu	37	17	62291518	62291518	+	Silent	SNP	G	G	A			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr17:62291518G>A	ENST00000583097.1	-	2	232	c.60C>T	c.(58-60)gcC>gcT	p.A20A	TEX2_ENST00000258991.3_Silent_p.A20A|TEX2_ENST00000584379.1_Silent_p.A20A			Q8IWB9	TEX2_HUMAN	testis expressed 2	20					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCACTTTAGGGGCTGATGGTT	0.562																																																0													133	118	123					17																	62291518		2203	4300	6503	SO:0001819	synonymous_variant	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.60C>T	17.37:g.62291518G>A			Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37																																																																																					0.562	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		A	62291518	G	A	62291518	2	1	324	1	0	0	0	0	0	0	0	1	15786	1219	43	2		2	TEX2	17	62291518	Silent	SNP	G	TCGA-BP-4173-01A-02D-1366-10		62291518	18903692	12	19024											
STX10	8677	hgsc.bcm.edu;ucsc.edu	37	19	13260576	13260576	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr19:13260576G>C	ENST00000587230.1	-	2	235	c.171C>G	c.(169-171)atC>atG	p.I57M	IER2_ENST00000292433.3_5'Flank|STX10_ENST00000343587.5_Missense_Mutation_p.I57M|IER2_ENST00000587885.1_5'Flank|IER2_ENST00000588173.1_5'Flank|STX10_ENST00000242770.5_Missense_Mutation_p.I57M|STX10_ENST00000589083.1_Missense_Mutation_p.I57M	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	57					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GGTCCCACTCGATGCTGCGCA	0.647											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													89	80	83					19																	13260576		2203	4300	6503	SO:0001583	missense	8677			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.171C>G	19.37:g.13260576G>C	ENSP00000466298:p.Ile57Met	686	A6NC41|Q6IAP4|Q96AE8	Missense_Mutation	SNP	ENST00000587230.1	37	CCDS32922.1	.	.	.	.	.	.	.	.	.	.	g	17.15	3.316810	0.60524	.	.	ENSG00000104915	ENST00000343587;ENST00000242770;ENST00000440593	.	.	.	3.58	0.0525	0.14302	t-SNARE (1);Syntaxin 6, N-terminal (1);	0.000000	0.64402	U	0.000004	T	0.68054	0.2959	M	0.83852	2.665	0.40057	D	0.975846	D	0.56287	0.975	D	0.67725	0.953	T	0.65323	-0.6196	9	0.62326	D	0.03	.	2.1679	0.03842	0.3701:0.0:0.3898:0.2401	.	57	O60499	STX10_HUMAN	M	57	.	ENSP00000242770:I57M	I	-	3	3	STX10	13121576	0.989000	0.36119	0.997000	0.53966	0.989000	0.77384	0.142000	0.16096	0.244000	0.21351	-0.216000	0.12614	ATC		0.647	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		C	13260576	G	C	13260576	3	2	324	1	0	0	0	0	1	0	0	0	15341	1048	37	4	605	4	STX10	19	13260576	Missense_Mutation	SNP	G	TCGA-BP-4173-01A-02D-1366-10		13260576	45868407	13	19025											
CEBPA	1050	hgsc.bcm.edu	37	19	33792387	33792387	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr19:33792387G>A	ENST00000498907.2	-	1	1083	c.934C>T	c.(934-936)Cag>Tag	p.Q312*	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	312	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q312del(5)|p.R306fs*48(3)|p.Q312*(3)|p.Q311_Q312insL(2)|p.Q312_K313insK(2)|p.H200_K352>Q(1)|p.?(1)|p.T310_Q312>K(1)|p.Q311_Q312insQQ(1)|p.Q311_Q312insF(1)|p.N307_Q312del(1)|p.Q311_Q312insQ(1)|p.Q311fs*11(1)|p.Q311_Q312insR(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					AGCACCTTCTGCTGCGTCTCC	0.647			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																														Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	24	Insertion - In frame(8)|Deletion - In frame(6)|Complex - deletion inframe(5)|Substitution - Nonsense(3)|Unknown(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(24)											53	53	53					19																	33792387		2203	4300	6503	SO:0001587	stop_gained	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.934C>T	19.37:g.33792387G>A	ENSP00000427514:p.Gln312*		A7LNP2|P78319|Q05CA4	Nonsense_Mutation	SNP	ENST00000498907.2	37	CCDS54243.1	.	.	.	.	.	.	.	.	.	.	G	38	7.081849	0.98051	.	.	ENSG00000245848	ENST00000498907	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.6187	0.84924	0.0:0.0:1.0:0.0	.	.	.	.	X	312	.	ENSP00000427514:Q312X	Q	-	1	0	CEBPA	38484227	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.914000	0.87478	2.133000	0.65898	0.462000	0.41574	CAG		0.647	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365012.1	NM_004364		A	33792387	G	A	33792387	4	1	324	1	0	0	0	0	0	1	0	0	3201	1328	46	2	146	2	CEBPA	19	33792387	Nonsense_Mutation	SNP	G	TCGA-BP-4173-01A-02D-1366-10	20531811	33792387	25336596	14	19026											
CAPN12	147968	hgsc.bcm.edu;ucsc.edu	37	19	39225512	39225512	+	Splice_Site	SNP	T	T	A			TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr19:39225512T>A	ENST00000328867.4	-	15	1995		c.e15-2		CAPN12_ENST00000601953.1_Splice_Site	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTCTTCCTCCTAGTCCAGGAA	0.597																																																0													77	65	69					19																	39225512		2197	4296	6493	SO:0001630	splice_region_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1687-2A>T	19.37:g.39225512T>A				Splice_Site	SNP	ENST00000328867.4	37	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023207	0.35701	.	.	ENSG00000182472	ENST00000328867	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4013	0.38435	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN12	43917352	0.998000	0.40836	0.400000	0.26346	0.017000	0.09413	3.475000	0.53136	1.737000	0.51674	0.459000	0.35465	.		0.597	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1		Intron	A	39225512	T	A	39225512	5	1	324	1	0	0	0	0	0	0	1	0	2627	1536	53	5	502	5	CAPN12	19	39225512	Splice_Site	SNP	T	TCGA-BP-4173-01A-02D-1366-10	5433125	39225512	19903471	15	19027											
ASXL1	171023	hgsc.bcm.edu	37	20	31024481	31024481	+	Silent	SNP	G	G	T	rs147326327		TCGA-BP-4173-01A-02D-1366-10	TCGA-BP-4173-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	778685b3-ff34-4f6f-adcf-52c9890ce179	3dda6e59-7c67-4113-81a7-f7cbc31cffa3	g.chr20:31024481G>T	ENST00000375687.4	+	13	4390	c.3966G>T	c.(3964-3966)ccG>ccT	p.P1322P	ASXL1_ENST00000306058.5_Silent_p.P1317P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1322					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCGGACCCGATGCCTCTTC	0.572			"F, N, Mis"		"MDS, CMML"																																		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													41	44	43					20																	31024481		2203	4300	6503	SO:0001819	synonymous_variant	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3966G>T	20.37:g.31024481G>T			B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1																																																																																				0.572	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		T	31024481	G	T	31024481	2	4	324	1	0	0	0	0	0	0	0	1	1066	1045	37	4		4	ASXL1	20	31024481	Silent	SNP	G	TCGA-BP-4173-01A-02D-1366-10		31024481	32001039	16	19028											
HMCN1	83872	ucsc.edu	37	1	185958692	185958692	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	C	C	C	A	C	C	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr1:185958692C>A	ENST00000271588.4	+	21	3350	c.3121C>A	c.(3121-3123)Cct>Act	p.P1041T	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1041T|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1041	Ig-like C2-type 7.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGGTATCACCTGGAGGAGA	0.507																																																0													122	110	114					1																	185958692		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3121C>A	1.37:g.185958692C>A	ENSP00000271588:p.Pro1041Thr		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298858	0.81025	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66099	-0.19;-0.19	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	N	0.15975	0.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65446	-0.6166	10	0.27082	T	0.32	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	425;1041	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	T	1041	ENSP00000271588:P1041T;ENSP00000356462:P1041T	ENSP00000271588:P1041T	P	+	1	0	HMCN1	184225315	1.000000	0.71417	0.491000	0.27477	0.704000	0.40688	5.400000	0.66320	2.550000	0.86006	0.655000	0.94253	CCT		0.507	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		A	185958692	C	A	185958692	3	1	325	1	0	0	0	0	1	0	0	0	7222	507	18	4	3203	4	HMCN1	1	185958692	Missense_Mutation	SNP	C	TCGA-BP-4174-01A-02D-1366-10		185958692	63291929	1	19029											
C1orf107	27042	hgsc.bcm.edu	37	1	210010524	210010524	+	Missense_Mutation	SNP	G	G	A	rs41274840	byFrequency	TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr1:210010524G>A	ENST00000491415.2	+	6	1087	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	344	Poly-Asp.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TGATGATGATGACTTCAGAGA	0.527													G|||	43	0.00858626	0.0	0.0274	5008	,	,		17783	0.0		0.0229	False		,,,				2504	0.001															0								G	ASN/ASP	22,4384		0,22,2181	49	40	43		1030	5	1	1	dbSNP_127	43	209,8391		2,205,4093	yes	missense	DIEXF	NM_014388.6	23	2,227,6274	AA,AG,GG		2.4302,0.4993,1.7761	possibly-damaging	344/757	210010524	231,12775	2203	4300	6503	SO:0001583	missense	0			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1030G>A	1.37:g.210010524G>A	ENSP00000419005:p.Asp344Asn		O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	CCDS1493.1	30	0.013736263736263736	0	0.0	14	0.03867403314917127	0	0.0	16	0.021108179419525065	G	33	5.255086	0.95336	0.004993	0.024302	ENSG00000117597	ENST00000491415	T	0.45276	0.9	5.91	5.0	0.66597	.	0.116765	0.56097	D	0.000021	T	0.22589	0.0545	M	0.65498	2.005	0.58432	D	0.999995	P	0.49783	0.928	P	0.52031	0.688	T	0.40098	-0.9581	10	0.54805	T	0.06	-26.6669	15.1828	0.72972	0.0673:0.0:0.9327:0.0	rs41274840;rs61740237	344	Q68CQ4	DIEXF_HUMAN	N	344	ENSP00000419005:D344N	ENSP00000419005:D344N	D	+	1	0	DIEXF	208077147	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	9.640000	0.98453	1.503000	0.48686	0.655000	0.94253	GAC		0.527	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		A	210010524	G	A	210010524	3	1	325	1	0	0	0	0	1	0	0	0	1983	1290	45	2	1052	2	C1orf107	1	210010524	Missense_Mutation	SNP	G	TCGA-BP-4174-01A-02D-1366-10	24051832	210010524	39240097	2	19030											
CENPF	1063	hgsc.bcm.edu	37	1	214818442	214818442	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr1:214818442T>G	ENST00000366955.3	+	13	5697	c.5529T>G	c.(5527-5529)agT>agG	p.S1843R		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1939					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAGATTTAAGTGAAAAATTGG	0.338																																					Colon(80;575 1284 11000 14801 43496)											0													33	36	35					1																	214818442		2189	4294	6483	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5529T>G	1.37:g.214818442T>G	ENSP00000355922:p.Ser1843Arg		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715848	0.48622	.	.	ENSG00000117724	ENST00000366955	T	0.03607	3.87	5.38	2.96	0.34315	.	0.547764	0.15415	N	0.263527	T	0.04272	0.0118	L	0.50333	1.59	0.33324	D	0.56771	B	0.12630	0.006	B	0.12156	0.007	T	0.21552	-1.0242	10	0.20046	T	0.44	.	8.3086	0.32058	0.123:0.0:0.2569:0.62	.	1939	P49454	CENPF_HUMAN	R	1843	ENSP00000355922:S1843R	ENSP00000355922:S1843R	S	+	3	2	CENPF	212885065	0.623000	0.27094	0.891000	0.34965	0.974000	0.67602	0.644000	0.24766	0.305000	0.22832	0.496000	0.49642	AGT		0.338	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214818442	T	G	214818442	3	3	325	1	0	0	0	0	1	0	0	0	3233	1693	59	5	5575	5	CENPF	1	214818442	Missense_Mutation	SNP	T	TCGA-BP-4174-01A-02D-1366-10	4807918	214818442	34432179	3	19031											
TPO	7173	hgsc.bcm.edu	37	2	1500518	1500518	+	Silent	SNP	C	C	T			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr2:1500518C>T	ENST00000345913.4	+	13	2458	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	TPO_ENST00000346956.3_Silent_p.F789F|TPO_ENST00000337415.3_Silent_p.F789F|TPO_ENST00000329066.4_Silent_p.F789F|TPO_ENST00000382201.3_Silent_p.F732F|TPO_ENST00000382198.1_Silent_p.F616F|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.F616F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	789	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GATGGGATTTCCAGCCTCCCC	0.493																																																0													126	124	125					2																	1500518		2203	4300	6503	SO:0001819	synonymous_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2367C>T	2.37:g.1500518C>T			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.469126	0.01053	.	.	ENSG00000115705	ENST00000446278	.	.	.	5.14	1.03	0.20045	.	.	.	.	.	T	0.24198	0.0586	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	-1.872	4.2682	0.10773	0.2972:0.4845:0.0:0.2183	.	.	.	.	F	264	.	.	S	+	2	0	TPO	1479525	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.136000	0.10405	0.644000	0.30656	0.591000	0.81541	TCC		0.493	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1500518	C	T	1500518	2	4	325	1	0	0	0	0	0	0	0	1	16415	854	30	2		2	TPO	2	1500518	Silent	SNP	C	TCGA-BP-4174-01A-02D-1366-10		1500518	241698855	4	19032											
APOB	338	hgsc.bcm.edu;ucsc.edu	37	2	21227505	21227505	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr2:21227505T>C	ENST00000233242.1	-	27	11958	c.11831A>G	c.(11830-11832)aAg>aGg	p.K3944R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3944					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTTAGTCTTAGAGGCTAA	0.358																																																0													171	161	164					2																	21227505		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11831A>G	2.37:g.21227505T>C	ENSP00000233242:p.Lys3944Arg		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.912012	0.52439	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.19394	2.15	5.99	3.6	0.41247	.	0.663889	0.14427	N	0.320264	T	0.12518	0.0304	N	0.17474	0.49	0.19575	N	0.999969	B	0.20887	0.049	B	0.17433	0.018	T	0.26849	-1.0091	10	0.34782	T	0.22	.	7.9648	0.30091	0.0:0.1647:0.0:0.8353	.	3944	P04114	APOB_HUMAN	R	3944	ENSP00000233242:K3944R	ENSP00000233242:K3944R	K	-	2	0	APOB	21081010	0.003000	0.15002	0.001000	0.08648	0.504000	0.33889	1.282000	0.33226	0.506000	0.28125	0.533000	0.62120	AAG		0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			C	21227505	T	C	21227505	3	2	325	1	0	0	0	0	1	0	0	0	785	1609	56	3	1872	3	APOB	2	21227505	Missense_Mutation	SNP	T	TCGA-BP-4174-01A-02D-1366-10	19726987	21227505	221971868	5	19033											
SEMA4C	54910	hgsc.bcm.edu	37	2	97526749	97526749	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr2:97526749C>A	ENST00000305476.5	-	15	2248	c.2116G>T	c.(2116-2118)Gtg>Ttg	p.V706L	ANKRD39_ENST00000393537.4_5'Flank	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	706					cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGGGGGTACACCAAGGTCCTC	0.622																																																0													26	31	30					2																	97526749		2203	4298	6501	SO:0001583	missense	54910			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.2116G>T	2.37:g.97526749C>A	ENSP00000306844:p.Val706Leu		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885388	0.72410	.	.	ENSG00000168758	ENST00000305476	T	0.77358	-1.09	4.98	4.98	0.66077	.	0.546751	0.19482	N	0.113194	T	0.80401	0.4616	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	D;D;D	0.76071	0.978;0.987;0.987	T	0.74694	-0.3579	10	0.15952	T	0.53	.	17.1884	0.86872	0.0:1.0:0.0:0.0	.	706;416;247	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	L	706	ENSP00000306844:V706L	ENSP00000306844:V706L	V	-	1	0	SEMA4C	96890476	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.301000	0.59086	2.579000	0.87056	0.561000	0.74099	GTG		0.622	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		A	97526749	C	A	97526749	3	1	325	1	0	0	0	0	1	0	0	0	14039	507	18	4	389	4	SEMA4C	2	97526749	Missense_Mutation	SNP	C	TCGA-BP-4174-01A-02D-1366-10	76299244	97526749	145672624	6	19034											
DPP10	57628	hgsc.bcm.edu;ucsc.edu	37	2	116510852	116510852	+	Silent	SNP	C	C	G			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr2:116510852C>G	ENST00000410059.1	+	11	1533	c.1053C>G	c.(1051-1053)acC>acG	p.T351T	DPP10_ENST00000409163.1_Silent_p.T301T|DPP10_ENST00000393147.2_Silent_p.T355T|DPP10_ENST00000310323.8_Silent_p.T344T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	351						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCTGTGAGACCACTACAGGTG	0.373																																																0													117	106	110					2																	116510852		2203	4300	6503	SO:0001819	synonymous_variant	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1053C>G	2.37:g.116510852C>G			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	CCDS46400.1																																																																																				0.373	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		G	116510852	C	G	116510852	2	3	325	1	0	0	0	0	0	0	0	1	4729	581	21	4		4	DPP10	2	116510852	Silent	SNP	C	TCGA-BP-4174-01A-02D-1366-10	18984103	116510852	126688521	7	19035											
NEB	4703	hgsc.bcm.edu;ucsc.edu	37	2	152552137	152552137	+	Silent	SNP	A	A	T			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr2:152552137A>T	ENST00000172853.10	-	18	1776	c.1629T>A	c.(1627-1629)acT>acA	p.T543T	NEB_ENST00000604864.1_Silent_p.T543T|NEB_ENST00000427231.2_Silent_p.T543T|NEB_ENST00000603639.1_Silent_p.T543T|NEB_ENST00000409198.1_Silent_p.T543T|NEB_ENST00000397345.3_Silent_p.T543T			P20929	NEBU_HUMAN	nebulin	543					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAAAAGCAGGAGTATCAGGGG	0.383																																																0													126	124	124					2																	152552137		1920	4128	6048	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1629T>A	2.37:g.152552137A>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152552137	A	T	152552137	2	4	325	1	0	0	0	0	0	0	0	1	10304	291	11	5		5	NEB	2	152552137	Silent	SNP	A	TCGA-BP-4174-01A-02D-1366-10	36041285	152552137	90647236	8	19036											
CCDC108	255101	hgsc.bcm.edu;ucsc.edu	37	2	219875305	219875305	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr2:219875305T>C	ENST00000341552.5	-	26	4354	c.4271A>G	c.(4270-4272)aAc>aGc	p.N1424S	CCDC108_ENST00000453220.1_Missense_Mutation_p.N1424S|CCDC108_ENST00000441968.1_Missense_Mutation_p.N1424S|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1424						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATGGAACTGTTGTCCCACGA	0.607																																																0													88	66	73					2																	219875305		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4271A>G	2.37:g.219875305T>C	ENSP00000340776:p.Asn1424Ser		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	T	0.131	-1.113813	0.01799	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.04809	3.55;3.55;3.55	5.19	-3.61	0.04556	.	0.997181	0.08123	N	0.994396	T	0.01835	0.0058	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.48445	-0.9035	10	0.07175	T	0.84	-9.3636	6.9112	0.24336	0.0:0.4327:0.2629:0.3045	.	1424	Q6ZU64	CC108_HUMAN	S	1424	ENSP00000340776:N1424S;ENSP00000413377:N1424S;ENSP00000409117:N1424S	ENSP00000340776:N1424S	N	-	2	0	CCDC108	219583549	0.001000	0.12720	0.010000	0.14722	0.657000	0.38888	0.455000	0.21843	-0.540000	0.06265	0.413000	0.27773	AAC		0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		C	219875305	T	C	219875305	3	2	325	1	0	0	0	0	1	0	0	0	2745	1725	60	3	1546	3	CCDC108	2	219875305	Missense_Mutation	SNP	T	TCGA-BP-4174-01A-02D-1366-10	67323168	219875305	23324068	9	19037											
OBSL1	23363	hgsc.bcm.edu	37	2	220431631	220431631	+	Silent	SNP	G	G	T	rs1043537	byFrequency	TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr2:220431631G>T	ENST00000404537.1	-	5	2111	c.2055C>A	c.(2053-2055)gcC>gcA	p.A685A	OBSL1_ENST00000265318.4_Silent_p.A685A|OBSL1_ENST00000373876.1_Silent_p.A685A|OBSL1_ENST00000289656.3_Silent_p.A272A|OBSL1_ENST00000603926.1_Silent_p.A685A|OBSL1_ENST00000373873.4_Silent_p.A685A	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	685					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGTGCTTGACGGCATGCAGGA	0.632													G|||	856	0.170927	0.0439	0.2003	5008	,	,		19484	0.1151		0.2425	False		,,,				2504	0.3057															0								G	,,	336,3798		8,320,1739	51	56	55		2055,2055,2055	-9.8	0	2	dbSNP_86	55	2110,6292		272,1566,2363	no	coding-synonymous,coding-synonymous,coding-synonymous	OBSL1	NM_001173408.1,NM_001173431.1,NM_015311.2	,,	280,1886,4102	TT,TG,GG		25.1131,8.1277,19.5118	,,	685/1026,685/1544,685/1897	220431631	2446,10090	2067	4201	6268	SO:0001819	synonymous_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2055C>A	2.37:g.220431631G>T			A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																				0.632	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			T	220431631	G	T	220431631	2	4	325	1	0	0	0	0	0	0	0	1	10815	1103	39	4		4	OBSL1	2	220431631	Silent	SNP	G	TCGA-BP-4174-01A-02D-1366-10	556326	220431631	22767742	10	19038											
TLR9	54106	hgsc.bcm.edu;ucsc.edu	37	3	52256548	52256548	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr3:52256548A>T	ENST00000360658.2	-	2	2417	c.1784T>A	c.(1783-1785)cTc>cAc	p.L595H	TLR9_ENST00000597542.1_Missense_Mutation_p.L619H|TLR9_ENST00000494383.1_Silent_p.A748A	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	595					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CGTACTGCAGAGCTGCTGGGA	0.632																																																0													51	46	48					3																	52256548		2203	4300	6503	SO:0001583	missense	54106			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1784T>A	3.37:g.52256548A>T	ENSP00000353874:p.Leu595His		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.083657	0.55861	.	.	ENSG00000239732	ENST00000360658	D	0.84070	-1.8	5.54	5.54	0.83059	.	0.000000	0.37053	N	0.002278	D	0.91192	0.7225	M	0.82630	2.6	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92385	0.5916	10	0.87932	D	0	.	13.6148	0.62101	1.0:0.0:0.0:0.0	.	692;595	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	595	ENSP00000353874:L595H	ENSP00000353874:L595H	L	-	2	0	TLR9	52231588	1.000000	0.71417	0.659000	0.29680	0.211000	0.24417	7.823000	0.86660	2.103000	0.63969	0.459000	0.35465	CTC		0.632	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			T	52256548	A	T	52256548	3	4	325	1	0	0	0	0	1	0	0	0	15963	304	11	5	1318	5	TLR9	3	52256548	Missense_Mutation	SNP	A	TCGA-BP-4174-01A-02D-1366-10		52256548	145765882	11	19039											
GATA2	2624	hgsc.bcm.edu	37	3	128204641	128204641	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr3:128204641G>A	ENST00000341105.2	-	3	1131	c.800C>T	c.(799-801)cCc>cTc	p.P267L	GATA2_ENST00000487848.1_Missense_Mutation_p.P267L|GATA2_ENST00000430265.2_Missense_Mutation_p.P267L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	267					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GAAGCCTCCGGGGTGGAAGAG	0.647			Mis		AML(CML blast transformation)																																		Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													38	43	41					3																	128204641		2203	4300	6503	SO:0001583	missense	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.800C>T	3.37:g.128204641G>A	ENSP00000345681:p.Pro267Leu		D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787728	0.90367	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97575	-4.43;-4.44;-4.43	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	M	0.79693	2.465	0.80722	D	1	D;P	0.89917	1.0;0.81	D;B	0.91635	0.999;0.212	D	0.99264	1.0891	10	0.56958	D	0.05	-13.2977	17.4411	0.87565	0.0:0.0:1.0:0.0	.	267;267	P23769-2;P23769	.;GATA2_HUMAN	L	267	ENSP00000345681:P267L;ENSP00000400259:P267L;ENSP00000417074:P267L	ENSP00000345681:P267L	P	-	2	0	GATA2	129687331	1.000000	0.71417	0.924000	0.36721	0.808000	0.45660	7.843000	0.86859	2.099000	0.63709	0.491000	0.48974	CCC		0.647	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		A	128204641	G	A	128204641	3	1	325	1	0	0	0	0	1	0	0	0	6256	1232	43	2	658	2	GATA2	3	128204641	Missense_Mutation	SNP	G	TCGA-BP-4174-01A-02D-1366-10	75948093	128204641	69817789	12	19040											
DBR1	51163	hgsc.bcm.edu	37	3	137893493	137893493	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr3:137893493G>T	ENST00000260803.4	-	1	298	c.145C>A	c.(145-147)Cta>Ata	p.L49I	DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	49					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATGCAGCGTAGATCCGCCTCG	0.687																																																0													27	25	25					3																	137893493		2203	4298	6501	SO:0001583	missense	51163			AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.145C>A	3.37:g.137893493G>T	ENSP00000260803:p.Leu49Ile		Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770182	0.69992	.	.	ENSG00000138231	ENST00000260803	T	0.34472	1.36	5.18	4.3	0.51218	Metallophosphoesterase domain (1);	0.057543	0.64402	D	0.000003	T	0.65249	0.2673	H	0.96518	3.835	0.80722	D	1	D	0.61697	0.99	D	0.64321	0.924	T	0.70788	-0.4777	10	0.72032	D	0.01	-11.1435	6.4619	0.21960	0.0906:0.0:0.7297:0.1797	.	49	Q9UK59	DBR1_HUMAN	I	49	ENSP00000260803:L49I	ENSP00000260803:L49I	L	-	1	2	DBR1	139376183	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	1.489000	0.35562	1.398000	0.46701	0.557000	0.71058	CTA		0.687	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			T	137893493	G	T	137893493	3	4	325	1	0	0	0	0	1	0	0	0	4259	933	33	4	1521	4	DBR1	3	137893493	Missense_Mutation	SNP	G	TCGA-BP-4174-01A-02D-1366-10	9688852	137893493	60128937	13	19041											
ELOVL7	79993	hgsc.bcm.edu;ucsc.edu	37	5	60050500	60050500	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr5:60050500C>T	ENST00000508821.1	-	9	1111	c.797G>A	c.(796-798)aGg>aAg	p.R266K	ELOVL7_ENST00000505959.1_Missense_Mutation_p.R253K|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R266K|ELOVL7_ENST00000425382.1_Missense_Mutation_p.R266K	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	266					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TTTGGGCAACCTCTGACCTTT	0.383																																																0													114	101	105					5																	60050500		2203	4300	6503	SO:0001583	missense	79993			AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"ELOVL family member 7, elongation of long chain fatty acids (yeast)"			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.797G>A	5.37:g.60050500C>T	ENSP00000424123:p.Arg266Lys		Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570057	0.86542	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.74	4.87	0.63330	.	0.046339	0.85682	D	0.000000	T	0.26629	0.0651	L	0.37850	1.14	0.48975	D	0.999736	P;P	0.50710	0.846;0.938	P;P	0.55303	0.557;0.773	T	0.02320	-1.1177	10	0.08381	T	0.77	-8.4519	14.8608	0.70379	0.0:0.931:0.0:0.069	.	253;266	D6RHD0;A1L3X0	.;ELOV7_HUMAN	K	266;266;266;253	ENSP00000424123:R266K;ENSP00000411255:R266K;ENSP00000402634:R266K;ENSP00000421043:R253K	ENSP00000402634:R266K	R	-	2	0	ELOVL7	60086257	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.424000	0.80242	1.424000	0.47217	0.555000	0.69702	AGG		0.383	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			T	60050500	C	T	60050500	3	4	325	1	0	0	0	0	1	0	0	0	5081	681	24	2	52	2	ELOVL7	5	60050500	Missense_Mutation	SNP	C	TCGA-BP-4174-01A-02D-1366-10		60050500	120864760	14	19042											
SYNE1	23345	hgsc.bcm.edu;ucsc.edu	37	6	152716701	152716701	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr6:152716701T>G	ENST00000367255.5	-	51	8263	c.7662A>C	c.(7660-7662)aaA>aaC	p.K2554N	SYNE1_ENST00000341594.5_Missense_Mutation_p.K2593N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K2554N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K2561N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K2561N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2554					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAACTTCATTTTTCTTCTCAG	0.393										HNSCC(10;0.0054)																																						0													174	165	168					6																	152716701		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7662A>C	6.37:g.152716701T>G	ENSP00000356224:p.Lys2554Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	16.02	3.004872	0.54254	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.56	3.11	0.35812	.	0.000000	0.64402	D	0.000005	T	0.34978	0.0916	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.76494	0.999;0.972;0.972;0.991	D;P;P;P	0.63488	0.915;0.635;0.635;0.799	T	0.11567	-1.0582	10	0.25751	T	0.34	.	9.1187	0.36773	0.0:0.2104:0.0:0.7896	.	2537;2554;2554;2561	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2554;2561;2554;2561;2593	ENSP00000356224:K2554N;ENSP00000396024:K2561N;ENSP00000265368:K2554N;ENSP00000390975:K2561N;ENSP00000341887:K2593N	ENSP00000265368:K2554N	K	-	3	2	SYNE1	152758394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.099000	0.31013	0.369000	0.24510	0.533000	0.62120	AAA		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152716701	T	G	152716701	3	3	325	1	0	0	0	0	1	0	0	0	15450	1838	64	5	19188	5	SYNE1	6	152716701	Missense_Mutation	SNP	T	TCGA-BP-4174-01A-02D-1366-10		152716701	18398366	15	19043											
COL1A2	1278	hgsc.bcm.edu;ucsc.edu	37	7	94040381	94040381	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr7:94040381G>C	ENST00000297268.6	+	23	1736	c.1265G>C	c.(1264-1266)aGt>aCt	p.S422T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	422					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTCCTGGTAGTCGTGGTGCA	0.522										HNSCC(75;0.22)																																						0													42	42	42					7																	94040381		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1265G>C	7.37:g.94040381G>C	ENSP00000297268:p.Ser422Thr		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	7.549	0.662287	0.14645	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93604	-3.25	5.84	-7.84	0.01196	.	0.778434	0.13020	N	0.420164	D	0.84915	0.5578	L	0.35793	1.09	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.68573	-0.5373	10	0.32370	T	0.25	.	8.3746	0.32436	0.4988:0.2595:0.2418:0.0	.	422	P08123	CO1A2_HUMAN	T	422;423	ENSP00000297268:S422T	ENSP00000297268:S422T	S	+	2	0	COL1A2	93878317	0.053000	0.20554	0.000000	0.03702	0.025000	0.11179	0.150000	0.16263	-1.396000	0.02071	-0.312000	0.09012	AGT		0.522	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		C	94040381	G	C	94040381	3	2	325	1	0	0	0	0	1	0	0	0	3680	1029	36	4	1355	4	COL1A2	7	94040381	Missense_Mutation	SNP	G	TCGA-BP-4174-01A-02D-1366-10		94040381	65098282	16	19044											
SNTG1	54212	hgsc.bcm.edu;ucsc.edu	37	8	51705388	51705388	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr8:51705388G>T	ENST00000522124.1	+	19	2214	c.1553G>T	c.(1552-1554)tGa>tTa	p.*518L	SNTG1_ENST00000517473.1_Nonstop_Mutation_p.*481L|SNTG1_ENST00000276467.5_Nonstop_Mutation_p.*481L|SNTG1_ENST00000518864.1_Nonstop_Mutation_p.*518L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	0					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TATACAACTTGACATACTGAA	0.433																																																0													131	122	125					8																	51705388		2203	4300	6503	SO:0001578	stop_lost	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1553G>T	8.37:g.51705388G>T	ENSP00000429842:p.*518Leuext*58		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762139	0.49468	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5303	0.50604	0.0821:0.0:0.9179:0.0	.	.	.	.	L	518;518;481;481	.	.	X	+	2	2	SNTG1	51867941	1.000000	0.71417	0.595000	0.28798	0.081000	0.17604	6.410000	0.73294	2.497000	0.84241	0.573000	0.79308	TGA		0.433	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			T	51705388	G	T	51705388	4	4	325	1	0	0	0	0	0	0	0	0	14880	1285	45	4	1619	4	SNTG1	8	51705388	Nonstop_Mutation	SNP	G	TCGA-BP-4174-01A-02D-1366-10		51705388	94658634	17	19045											
KIF24	347240	hgsc.bcm.edu;ucsc.edu	37	9	34271874	34271874	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr9:34271874C>A	ENST00000402558.2	-	6	1294	c.1270G>T	c.(1270-1272)Gac>Tac	p.D424Y	KIF24_ENST00000379166.2_Missense_Mutation_p.D424Y|KIF24_ENST00000379174.3_Missense_Mutation_p.D290Y|KIF24_ENST00000345050.2_Missense_Mutation_p.D290Y			Q5T7B8	KIF24_HUMAN	kinesin family member 24	424	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CGGGAGGAGTCTGCATTAACT	0.478																																																0													71	70	70					9																	34271874		1988	4177	6165	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1270G>T	9.37:g.34271874C>A	ENSP00000384433:p.Asp424Tyr		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475376	0.43942	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.61	5.61	0.85477	Kinesin, motor domain (5);	0.151685	0.30911	N	0.008622	D	0.84428	0.5470	L	0.60845	1.875	0.40022	D	0.975428	D;D	0.89917	1.0;1.0	D;D	0.81914	0.989;0.995	D	0.83418	0.0031	10	0.41790	T	0.15	.	19.2975	0.94129	0.0:1.0:0.0:0.0	.	424;424	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	Y	424;290;424;290;424	ENSP00000384433:D424Y;ENSP00000368472:D290Y;ENSP00000368464:D424Y;ENSP00000340179:D290Y	ENSP00000340179:D290Y	D	-	1	0	KIF24	34261874	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.212000	0.51145	2.675000	0.91044	0.650000	0.86243	GAC		0.478	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			A	34271874	C	A	34271874	3	1	325	1	0	0	0	0	1	0	0	0	8294	913	32	4	2864	4	KIF24	9	34271874	Missense_Mutation	SNP	C	TCGA-BP-4174-01A-02D-1366-10		34271874	106941557	18	19046											
COL15A1	1306	hgsc.bcm.edu	37	9	101777794	101777794	+	Silent	SNP	A	A	C			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr9:101777794A>C	ENST00000375001.3	+	10	1872	c.1449A>C	c.(1447-1449)acA>acC	p.T483T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	483	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGGTCCCCACAGATGGCCTGG	0.567																																																0													61	56	58					9																	101777794		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1449A>C	9.37:g.101777794A>C			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.567	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		C	101777794	A	C	101777794	2	2	325	1	0	0	0	0	0	0	0	1	3674	175	7	5		5	COL15A1	9	101777794	Silent	SNP	A	TCGA-BP-4174-01A-02D-1366-10	67505920	101777794	39435637	19	19047											
PTGS1	5742	hgsc.bcm.edu;ucsc.edu	37	9	125140798	125140798	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr9:125140798G>T	ENST00000362012.2	+	4	303	c.298G>T	c.(298-300)Gag>Tag	p.E100*	PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000540753.1_Nonsense_Mutation_p.E75*|PTGS1_ENST00000223423.4_Nonsense_Mutation_p.E100*	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	100					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTGGTTCTGGGAGTTTGTCAA	0.632																																																0													73	73	73					9																	125140798		2203	4300	6503	SO:0001587	stop_gained	5742			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.298G>T	9.37:g.125140798G>T	ENSP00000354612:p.Glu100*		A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Nonsense_Mutation	SNP	ENST00000362012.2	37	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	35	5.592948	0.96602	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000426608	.	.	.	5.68	3.82	0.43975	.	0.179894	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-15.2044	11.8864	0.52604	0.1276:0.0:0.8724:0.0	.	.	.	.	X	75;100;100;58	.	ENSP00000223423:E100X	E	+	1	0	PTGS1	124180619	0.880000	0.30214	1.000000	0.80357	0.986000	0.74619	0.131000	0.15870	2.677000	0.91161	0.563000	0.77884	GAG		0.632	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			T	125140798	G	T	125140798	4	4	325	1	0	0	0	0	0	1	0	0	12761	1175	41	4	312	4	PTGS1	9	125140798	Nonsense_Mutation	SNP	G	TCGA-BP-4174-01A-02D-1366-10	23363004	125140798	16072633	20	19048											
INPP5E	56623	hgsc.bcm.edu	37	9	139333264	139333264	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr9:139333264G>A	ENST00000371712.3	-	1	1010	c.608C>T	c.(607-609)tCc>tTc	p.S203F	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S203F(1)		NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CAGGGAGTCGGAGGCGATGTC	0.716																																																1	Substitution - Missense(1)	skin(1)											19	21	20					9																	139333264		2197	4300	6497	SO:0001583	missense	56623			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.608C>T	9.37:g.139333264G>A	ENSP00000360777:p.Ser203Phe		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054085	0.75960	.	.	ENSG00000148384	ENST00000371712	D	0.98362	-4.89	3.32	3.32	0.38043	.	0.447607	0.20968	N	0.082460	D	0.98365	0.9457	M	0.63843	1.955	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.68943	0.961;0.915	D	0.98528	1.0626	10	0.56958	D	0.05	-19.7137	14.1328	0.65266	0.0:0.0:1.0:0.0	.	203;203	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	F	203	ENSP00000360777:S203F	ENSP00000360777:S203F	S	-	2	0	INPP5E	138453085	1.000000	0.71417	0.032000	0.17829	0.177000	0.22998	5.270000	0.65547	1.853000	0.53794	0.462000	0.41574	TCC		0.716	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		A	139333264	G	A	139333264	3	1	325	1	0	0	0	0	1	0	0	0	7759	1174	41	2	1366	2	INPP5E	9	139333264	Missense_Mutation	SNP	G	TCGA-BP-4174-01A-02D-1366-10	14192466	139333264	1880167	21	19049											
C8G	733	hgsc.bcm.edu	37	9	139839785	139839785	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr9:139839785G>A	ENST00000224181.3	+	1	73	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	FBXW5_ENST00000483559.1_5'Flank|FBXW5_ENST00000325285.3_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	5					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		GCTGCCCCCTGGGACTGCGAC	0.667											OREG0019623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													27	31	29					9																	139839785		2202	4299	6501	SO:0001583	missense	733			X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"Complement system", "Lipocalins"	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.13G>A	9.37:g.139839785G>A	ENSP00000224181:p.Gly5Arg	1651	Q14CT8|Q14CU0|Q5SQ07	Missense_Mutation	SNP	ENST00000224181.3	37	CCDS7017.1	.	.	.	.	.	.	.	.	.	.	G	5.373	0.254003	0.10185	.	.	ENSG00000176919	ENST00000371634;ENST00000224181	T;T	0.21734	1.99;2.83	5.21	-2.54	0.06307	.	0.654477	0.14051	N	0.344750	T	0.05181	0.0138	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32877	-0.9890	10	0.06625	T	0.88	-2.4209	0.1873	0.00130	0.2958:0.1582:0.2622:0.2837	.	5	P07360	CO8G_HUMAN	R	5	ENSP00000360697:G5R;ENSP00000224181:G5R	ENSP00000224181:G5R	G	+	1	0	C8G	138959606	0.007000	0.16637	0.000000	0.03702	0.038000	0.13279	0.143000	0.16115	-0.480000	0.06803	0.561000	0.74099	GGG		0.667	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055178.1			A	139839785	G	A	139839785	3	1	325	1	0	0	0	0	1	0	0	0	2420	1348	47	2	15	2	C8G	9	139839785	Missense_Mutation	SNP	G	TCGA-BP-4174-01A-02D-1366-10	506521	139839785	1373646	22	19050											
ZNF33B	7582	hgsc.bcm.edu	37	10	43088537	43088537	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr10:43088537T>C	ENST00000359467.3	-	5	1975	c.1861A>G	c.(1861-1863)Aag>Gag	p.K621E	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AGTTGTGACTTCTGGCAGAAG	0.363																																					Melanoma(137;1247 1767 16772 25727 43810)											0													96	96	96					10																	43088537		2203	4300	6503	SO:0001583	missense	7582			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1861A>G	10.37:g.43088537T>C	ENSP00000352444:p.Lys621Glu		Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.215778	0.39102	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.00958	5.5	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35646	N	0.003071	T	0.02455	0.0075	L	0.44542	1.39	0.09310	N	0.999999	D	0.69078	0.997	D	0.70016	0.967	T	0.46925	-0.9156	10	0.37606	T	0.19	.	9.025	0.36224	0.0:0.0:0.0:1.0	.	621	Q06732	ZN33B_HUMAN	E	621;587	ENSP00000352444:K621E	ENSP00000352444:K621E	K	-	1	0	ZNF33B	42408543	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.848000	0.27710	1.446000	0.47643	0.336000	0.21669	AAG		0.363	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		C	43088537	T	C	43088537	3	2	325	1	0	0	0	0	1	0	0	0	17860	1792	62	3	479	3	ZNF33B	10	43088537	Missense_Mutation	SNP	T	TCGA-BP-4174-01A-02D-1366-10		43088537	92446210	23	19051											
PRF1	5551	hgsc.bcm.edu;ucsc.edu	37	10	72357903	72357903	+	Missense_Mutation	SNP	C	C	T	rs141702424		TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr10:72357903C>T	ENST00000441259.1	-	3	1734	c.1574G>A	c.(1573-1575)tGc>tAc	p.C525Y	PRF1_ENST00000373209.2_Missense_Mutation_p.C525Y	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	525					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTGGGGCAAGCACCTGGCATG	0.587			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0			GRCh37	CM080512	PRF1	M	rs141702424	C	TYR/CYS,TYR/CYS	0,4406		0,0,2203	103	97	99		1574,1574	6	0.1	10	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRF1	NM_001083116.1,NM_005041.4	194,194	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	525/556,525/556	72357903	1,13005	2203	4300	6503	SO:0001583	missense	5551	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1574G>A	10.37:g.72357903C>T	ENSP00000398568:p.Cys525Tyr		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244747	0.79912	0.0	1.16E-4	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.97378	-4.36;-4.36	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99466	1.0944	10	0.87932	D	0	-44.4699	17.9177	0.88957	0.0:1.0:0.0:0.0	.	525	P14222	PERF_HUMAN	Y	525	ENSP00000362305:C525Y;ENSP00000398568:C525Y	ENSP00000316746:C525Y	C	-	2	0	PRF1	72027909	1.000000	0.71417	0.149000	0.22428	0.003000	0.03518	6.524000	0.73791	2.828000	0.97474	0.655000	0.94253	TGC		0.587	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		T	72357903	C	T	72357903	3	4	325	1	0	0	0	0	1	0	0	0	12483	710	25	2	97	2	PRF1	10	72357903	Missense_Mutation	SNP	C	TCGA-BP-4174-01A-02D-1366-10	29269366	72357903	63176844	24	19052											
ARF3	377	hgsc.bcm.edu;ucsc.edu	37	12	49333860	49333860	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr12:49333860T>C	ENST00000256682.4	-	3	513	c.179A>G	c.(178-180)aAc>aGc	p.N60S	ARF3_ENST00000447318.2_Intron|ARF3_ENST00000541967.1_5'Flank|AC073610.5_ENST00000537495.1_5'Flank|ARF3_ENST00000541959.1_Missense_Mutation_p.N60S|RP11-302B13.5_ENST00000398092.4_Missense_Mutation_p.N60S	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	60					GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						AAAGCTGATGTTCTTATACTC	0.507																																					Pancreas(189;1862 2134 4419 30933 49364)											0													184	151	162					12																	49333860		2203	4300	6503	SO:0001583	missense	377			M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"ADP-ribosylation factors"	654	protein-coding gene	gene with protein product	"small GTP binding protein"	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.179A>G	12.37:g.49333860T>C	ENSP00000256682:p.Asn60Ser		A8K6G8|B7ZB63|P16587	Missense_Mutation	SNP	ENST00000256682.4	37	CCDS8774.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.252761	0.39797	.	.	ENSG00000134287	ENST00000398092;ENST00000256682;ENST00000541959;ENST00000541236	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.72	4.72	0.59763	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86414	0.5927	M	0.90425	3.115	0.80722	D	1	B	0.27264	0.173	B	0.31016	0.123	D	0.86952	0.2086	10	0.72032	D	0.01	.	13.4987	0.61440	0.0:0.0:0.0:1.0	.	60	P61204	ARF3_HUMAN	S	60	ENSP00000438507:N60S;ENSP00000256682:N60S;ENSP00000438510:N60S;ENSP00000438063:N60S	ENSP00000256682:N60S	N	-	2	0	ARF3	47620127	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.036000	0.88901	1.887000	0.54652	0.379000	0.24179	AAC		0.507	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2	NM_001659		C	49333860	T	C	49333860	3	2	325	1	0	0	0	0	1	0	0	0	845	1725	60	3	378	3	ARF3	12	49333860	Missense_Mutation	SNP	T	TCGA-BP-4174-01A-02D-1366-10		49333860	84518035	25	19053											
NCKAP1L	3071	hgsc.bcm.edu;ucsc.edu	37	12	54914587	54914587	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr12:54914587A>G	ENST00000293373.6	+	17	1814	c.1735A>G	c.(1735-1737)Act>Gct	p.T579A	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T529A	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	579					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGTCCACTGCACTCATGAGAT	0.468																																																0													406	348	368					12																	54914587		2203	4300	6503	SO:0001583	missense	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1735A>G	12.37:g.54914587A>G	ENSP00000293373:p.Thr579Ala		B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396816	0.25205	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.28895	1.59;1.59	5.46	2.86	0.33363	.	0.433261	0.27266	N	0.020142	T	0.16471	0.0396	L	0.29908	0.895	0.24399	N	0.994711	B	0.25351	0.124	B	0.28385	0.089	T	0.31081	-0.9956	10	0.02654	T	1	-6.2925	6.1527	0.20320	0.775:0.0:0.0815:0.1434	.	579	P55160	NCKPL_HUMAN	A	579;529	ENSP00000293373:T579A;ENSP00000445596:T529A	ENSP00000293373:T579A	T	+	1	0	NCKAP1L	53200854	0.267000	0.24122	1.000000	0.80357	0.994000	0.84299	1.471000	0.35365	0.982000	0.38575	0.449000	0.29647	ACT		0.468	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		G	54914587	A	G	54914587	3	3	325	1	0	0	0	0	1	0	0	0	10224	159	6	3	1801	3	NCKAP1L	12	54914587	Missense_Mutation	SNP	A	TCGA-BP-4174-01A-02D-1366-10	5580727	54914587	78937308	26	19054											
AKAP11	11215	hgsc.bcm.edu;ucsc.edu	37	13	42875949	42875949	+	Silent	SNP	C	C	T			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr13:42875949C>T	ENST00000025301.2	+	8	3242	c.3067C>T	c.(3067-3069)Ctg>Ttg	p.L1023L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1023					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CCTAGAGACACTGCCATCTTG	0.418																																																0													78	74	75					13																	42875949		2203	4300	6503	SO:0001819	synonymous_variant	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3067C>T	13.37:g.42875949C>T			O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	37	CCDS9383.1																																																																																				0.418	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		T	42875949	C	T	42875949	2	4	325	1	0	0	0	0	0	0	0	1	447	564	20	2		2	AKAP11	13	42875949	Silent	SNP	C	TCGA-BP-4174-01A-02D-1366-10		42875949	72293929	27	19055											
TMEM179	388021	hgsc.bcm.edu;ucsc.edu	37	14	105061450	105061450	+	Intron	SNP	A	A	C			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr14:105061450A>C	ENST00000556573.1	-	3	764				TMEM179_ENST00000341595.3_Missense_Mutation_p.L192V			Q6ZVK1	T179A_HUMAN	transmembrane protein 179							integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		TCCAGCAGTAAATGGCCCCCT	0.587																																																0													69	61	64					14																	105061450		2203	4300	6503	SO:0001627	intron_variant	388021			AK124477	CCDS66723.1, CCDS73688.1	14q32.33	2012-04-11	2006-10-16	2006-10-16	ENSG00000258986	ENSG00000258986			20137	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 90"	C14orf90			Standard	NM_001286390		Approved	FLJ42486, TMEM179A	uc001yox.1	Q6ZVK1	OTTHUMG00000170829	ENST00000556573.1:c.522+51T>G	14.37:g.105061450A>C				Missense_Mutation	SNP	ENST00000556573.1	37		.	.	.	.	.	.	.	.	.	.	A	13.29	2.193927	0.38707	.	.	ENSG00000258986	ENST00000341595	.	.	.	2.44	2.44	0.29823	.	0.000000	0.64402	U	0.000005	T	0.29749	0.0743	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.27331	-1.0077	8	0.87932	D	0	.	6.7764	0.23622	1.0:0.0:0.0:0.0	.	192	Q6ZVK1-2	.	V	192	.	ENSP00000340477:L192V	L	-	1	2	TMEM179	104132495	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.324000	0.19610	0.858000	0.35431	0.374000	0.22700	TTA		0.587	TMEM179-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410585.1	NM_207379		C	105061450	A	C	105061450	1	2	325	0	1	0	0	0	0	0	0	0	16101	11	1	5		5	TMEM179	14	105061450	Intron	SNP	A	TCGA-BP-4174-01A-02D-1366-10		105061450	2288090	28	19056											
ACAN	176	hgsc.bcm.edu;ucsc.edu	37	15	89402128	89402128	+	Silent	SNP	C	C	A	rs368590289		TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr15:89402128C>A	ENST00000561243.1	+	11	6312	c.6312C>A	c.(6310-6312)tcC>tcA	p.S2104S	ACAN_ENST00000352105.7_Silent_p.S2104S|ACAN_ENST00000439576.2_Silent_p.S2104S|ACAN_ENST00000559004.1_Silent_p.S2104S			P16112	PGCA_HUMAN	aggrecan	1989	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGAGACGTCCGCCTATCCTG	0.567																																																0													42	43	42					15																	89402128		1904	4115	6019	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6312C>A	15.37:g.89402128C>A			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																				0.567	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89402128	C	A	89402128	2	1	325	1	0	0	0	0	0	0	0	1	117	639	23	4		4	ACAN	15	89402128	Silent	SNP	C	TCGA-BP-4174-01A-02D-1366-10		89402128	13129264	29	19057											
ZDHHC1	29800	hgsc.bcm.edu	37	16	67428940	67428940	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr16:67428940T>A	ENST00000348579.2	-	10	1536	c.1195A>T	c.(1195-1197)Aag>Tag	p.K399*	TPPP3_ENST00000393957.2_5'Flank|ZDHHC1_ENST00000566075.1_5'UTR|TPPP3_ENST00000562206.1_5'Flank|TPPP3_ENST00000290942.5_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	399					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CGTTCGCACTTTATACACGCG	0.627																																																0													22	27	25					16																	67428940		2197	4300	6497	SO:0001587	stop_gained	29800			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1195A>T	16.37:g.67428940T>A	ENSP00000340299:p.Lys399*		O15461	Nonsense_Mutation	SNP	ENST00000348579.2	37	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	T	36	5.798216	0.96952	.	.	ENSG00000159714	ENST00000348579	.	.	.	3.9	2.8	0.32819	.	10.119200	0.01542	U	0.019280	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4082	0.16332	0.0:0.1356:0.0:0.8644	.	.	.	.	X	399	.	ENSP00000340299:K399X	K	-	1	0	ZDHHC1	65986441	1.000000	0.71417	0.394000	0.26270	0.015000	0.08874	1.436000	0.34980	0.682000	0.31407	0.459000	0.35465	AAG		0.627	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		A	67428940	T	A	67428940	4	1	325	1	0	0	0	0	0	1	0	0	17605	1850	64	5	270	5	ZDHHC1	16	67428940	Nonsense_Mutation	SNP	T	TCGA-BP-4174-01A-02D-1366-10		67428940	22925813	30	19058											
FUT3	2525	hgsc.bcm.edu	37	19	5843822	5843822	+	Silent	SNP	T	T	C	rs199931170	byFrequency	TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr19:5843822T>C	ENST00000303225.6	-	3	1663	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Silent_p.K343K|FUT3_ENST00000589918.1_Silent_p.K343K|FUT3_ENST00000458379.2_Silent_p.K343K	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	343					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCTGCTGCAGTTTCCAGCAGG	0.632																																					Esophageal Squamous(82;745 1728 24593 44831)											0													61	65	64					19																	5843822		2203	4300	6503	SO:0001819	synonymous_variant	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.1029A>G	19.37:g.5843822T>C			B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Silent	SNP	ENST00000303225.6	37	CCDS12153.1																																																																																				0.632	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		C	5843822	T	C	5843822	2	2	325	1	0	0	0	0	0	0	0	1	6107	1722	60	3		3	FUT3	19	5843822	Silent	SNP	T	TCGA-BP-4174-01A-02D-1366-10		5843822	53285161	31	19059											
LENG1	79165	hgsc.bcm.edu	37	19	54663351	54663351	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr19:54663351C>G	ENST00000222224.3	-	1	269	c.83G>C	c.(82-84)cGg>cCg	p.R28P		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	28										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCCTCCTCCCGGGCCTGGGC	0.682																																																0													27	23	24					19																	54663351		2203	4298	6501	SO:0001583	missense	79165			AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.83G>C	19.37:g.54663351C>G	ENSP00000222224:p.Arg28Pro		Q9HCU7	Missense_Mutation	SNP	ENST00000222224.3	37	CCDS12881.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139150	0.77775	.	.	ENSG00000105617	ENST00000222224	T	0.48522	0.81	4.76	4.76	0.60689	.	0.130652	0.49916	D	0.000138	T	0.64283	0.2584	M	0.87547	2.89	0.33554	D	0.596461	D	0.64830	0.994	P	0.59889	0.865	T	0.75393	-0.3333	10	0.52906	T	0.07	-25.9682	6.9929	0.24765	0.0:0.7311:0.1774:0.0915	.	28	Q96BZ8	LENG1_HUMAN	P	28	ENSP00000222224:R28P	ENSP00000222224:R28P	R	-	2	0	LENG1	59355163	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.165000	0.58196	2.657000	0.90304	0.650000	0.86243	CGG		0.682	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316		G	54663351	C	G	54663351	3	3	325	1	0	0	0	0	1	0	0	0	8725	652	23	4	727	4	LENG1	19	54663351	Missense_Mutation	SNP	C	TCGA-BP-4174-01A-02D-1366-10	48819529	54663351	4465632	32	19060											
CD93	22918	hgsc.bcm.edu;ucsc.edu	37	20	23066400	23066400	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr20:23066400G>T	ENST00000246006.4	-	1	577	c.430C>A	c.(430-432)Ctg>Atg	p.L144M		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	144	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCAGCAGCAGAGACACACAG	0.652																																																0													24	30	28					20																	23066400		2203	4299	6502	SO:0001583	missense	22918			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.430C>A	20.37:g.23066400G>T	ENSP00000246006:p.Leu144Met		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048917	0.36181	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.22336	1.96	5.38	3.43	0.39272	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.46758	D	0.000280	T	0.28962	0.0719	L	0.47016	1.485	0.09310	N	1	D	0.57899	0.981	P	0.60236	0.871	T	0.05370	-1.0889	10	0.33940	T	0.23	-21.583	6.244	0.20807	0.1545:0.0:0.6968:0.1486	.	144	Q9NPY3	C1QR1_HUMAN	M	144	ENSP00000246006:L144M	ENSP00000246006:L144M	L	-	1	2	CD93	23014400	0.999000	0.42202	0.526000	0.27913	0.911000	0.54048	1.525000	0.35953	0.736000	0.32559	0.655000	0.94253	CTG		0.652	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		T	23066400	G	T	23066400	3	4	325	1	0	0	0	0	1	0	0	0	3049	933	33	4	1536	4	CD93	20	23066400	Missense_Mutation	SNP	G	TCGA-BP-4174-01A-02D-1366-10		23066400	39959120	33	19061											
PROCR	10544	hgsc.bcm.edu	37	20	33764031	33764031	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr20:33764031A>T	ENST00000216968.4	+	3	465	c.383A>T	c.(382-384)cAt>cTt	p.H128L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	128					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TCTAGAGCCCATGTCTTCTTC	0.602																																																0													81	82	82					20																	33764031		2203	4300	6503	SO:0001583	missense	10544			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"CD molecules"	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.383A>T	20.37:g.33764031A>T	ENSP00000216968:p.His128Leu		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.332982	0.60853	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	T	0.00672	5.89	5.61	-4.11	0.03928	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.020640	0.07782	N	0.953481	T	0.01835	0.0058	M	0.76838	2.35	0.09310	N	0.999998	P	0.48350	0.909	P	0.45099	0.469	T	0.11084	-1.0602	10	0.72032	D	0.01	-5.048	12.9208	0.58230	0.4238:0.0:0.5762:0.0	.	128	Q9UNN8	EPCR_HUMAN	L	128	ENSP00000216968:H128L	ENSP00000216968:H128L	H	+	2	0	PROCR	33227692	0.000000	0.05858	0.001000	0.08648	0.931000	0.56810	-1.118000	0.03280	-1.210000	0.02627	0.459000	0.35465	CAT		0.602	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			T	33764031	A	T	33764031	3	4	325	1	0	0	0	0	1	0	0	0	12552	217	8	5	393	5	PROCR	20	33764031	Missense_Mutation	SNP	A	TCGA-BP-4174-01A-02D-1366-10	10697631	33764031	29261489	34	19062											
CHRNA4	1137	hgsc.bcm.edu;ucsc.edu	37	20	61981905	61981905	+	Silent	SNP	G	G	A	rs121912257		TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr20:61981905G>A	ENST00000370263.4	-	5	1079	c.858C>T	c.(856-858)acC>acT	p.T286T	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	286					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCAGGAAGACGGTGAGCGACA	0.592																																																0													267	195	219					20																	61981905		2203	4300	6503	SO:0001819	synonymous_variant	1137				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.858C>T	20.37:g.61981905G>A			Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	CCDS13517.1																																																																																				0.592	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			A	61981905	G	A	61981905	2	1	325	1	0	0	0	0	0	0	0	1	3387	1103	39	1		1	CHRNA4	20	61981905	Silent	SNP	G	TCGA-BP-4174-01A-02D-1366-10	28217874	61981905	1043615	35	19063											
HIC2	23119	hgsc.bcm.edu	37	22	21800836	21800836	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr22:21800836A>G	ENST00000443632.2	+	2	2024	c.1652A>G	c.(1651-1653)cAc>cGc	p.H551R	HIC2_ENST00000407598.2_Missense_Mutation_p.H551R|HIC2_ENST00000407464.2_Missense_Mutation_p.H551R			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	551					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ATGACGCGTCACATGCGGAGC	0.642																																					NSCLC(23;437 858 2282 27947 40366)											0													71	60	64					22																	21800836		2203	4300	6503	SO:0001583	missense	23119			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1652A>G	22.37:g.21800836A>G	ENSP00000387757:p.His551Arg		Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.472185	0.63737	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	D;D;D	0.99974	-10.2;-10.2;-10.2	4.48	3.42	0.39159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99971	0.9990	M	0.93978	3.48	0.58432	D	0.999992	D	0.56746	0.977	P	0.59357	0.856	D	0.95057	0.8192	10	0.87932	D	0	.	9.2921	0.37793	0.8181:0.1819:0.0:0.0	.	551	Q96JB3	HIC2_HUMAN	R	551	ENSP00000385319:H551R;ENSP00000384889:H551R;ENSP00000387757:H551R	ENSP00000385319:H551R	H	+	2	0	HIC2	20130836	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	9.026000	0.93700	0.736000	0.32559	0.529000	0.55759	CAC		0.642	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			G	21800836	A	G	21800836	3	3	325	1	0	0	0	0	1	0	0	0	7104	159	6	3	1658	3	HIC2	22	21800836	Missense_Mutation	SNP	A	TCGA-BP-4174-01A-02D-1366-10		21800836	29503730	36	19064											
PES1	23481	hgsc.bcm.edu;ucsc.edu	37	22	30983297	30983299	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr22:30983297_30983299delTTG	ENST00000354694.7	-	4	448_450	c.342_344delCAA	c.(340-345)tacaaa>taa	p.114_115YK>*	PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402284.3_In_Frame_Del_p.114_115YK>*|PES1_ENST00000335214.6_In_Frame_Del_p.114_115YK>*|PES1_ENST00000402281.1_5'UTR	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GTGGTCGAGTTTGTAGTTGGGCT	0.498																																																0																																										SO:0001651	inframe_deletion	23481			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000354694.7:c.342_344delCAA	22.37:g.30983297_30983299delTTG	ENSP00000346725:p.Tyr114_Lys115delins*			In_Frame_Del	DEL	ENST00000354694.7	37	CCDS13880.1																																																																																				0.498	PES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321188.3	NM_014303		-	30983299	TTG	-	30983297	7	5	325	1	0	1	0	1	0	0	0	0	11735	1841	64	0	1470	0	PES1	22	30983297	In_Frame_Del	DEL	TTG	TCGA-BP-4174-01A-02D-1366-10	9182461	30983297	20321269	37	19065											
NCAPH2	29781	hgsc.bcm.edu	37	22	50961541	50961541	+	Silent	SNP	G	G	A			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chr22:50961541G>A	ENST00000420993.2	+	19	1745	c.1623G>A	c.(1621-1623)gtG>gtA	p.V541V	NCAPH2_ENST00000395701.3_Silent_p.V541V|CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000299821.11_Silent_p.V542V	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	541					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CGGAGCTGGTGGCTGGCCAGC	0.637																																																0													56	44	48					22																	50961541		2202	4300	6502	SO:0001819	synonymous_variant	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1623G>A	22.37:g.50961541G>A			B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Silent	SNP	ENST00000420993.2	37	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	G	9.363	1.068425	0.20067	.	.	ENSG00000025770	ENST00000522304	.	.	.	4.79	-0.187	0.13268	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.8022	6.3941	0.21603	0.2332:0.1329:0.6339:0.0	.	.	.	.	X	77	.	.	W	+	2	0	NCAPH2	49308407	0.385000	0.25172	0.991000	0.47740	0.955000	0.61496	0.008000	0.13197	0.177000	0.19895	0.561000	0.74099	TGG		0.637	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		A	50961541	G	A	50961541	2	1	325	1	0	0	0	0	0	0	0	1	10212	1335	47	2		2	NCAPH2	22	50961541	Silent	SNP	G	TCGA-BP-4174-01A-02D-1366-10	19978244	50961541	343025	38	19066											
MAGED1	9500	hgsc.bcm.edu	37	X	51640358	51640358	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chrX:51640358A>G	ENST00000375722.1	+	5	1729	c.1477A>G	c.(1477-1479)Aag>Gag	p.K493E	MAGED1_ENST00000375772.3_Missense_Mutation_p.K493E|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.K549E|MAGED1_ENST00000326587.7_Missense_Mutation_p.K493E			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	493	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GGTGCCCATCAAGCGCTCAGG	0.458										Multiple Myeloma(10;0.10)																																						0													102	71	81					X																	51640358		2203	4300	6503	SO:0001583	missense	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1477A>G	X.37:g.51640358A>G	ENSP00000364874:p.Lys493Glu		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699654	0.48307	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	3.54	3.54	0.40534	.	0.000000	0.39687	N	0.001285	T	0.09202	0.0227	M	0.81112	2.525	0.36715	D	0.880855	P;B	0.40534	0.72;0.294	B;B	0.35353	0.201;0.132	T	0.08868	-1.0701	10	0.72032	D	0.01	.	7.7128	0.28688	1.0:0.0:0.0:0.0	.	549;493	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	E	493;493;493;549	ENSP00000364927:K493E;ENSP00000364874:K493E;ENSP00000325333:K493E;ENSP00000364847:K549E	ENSP00000325333:K493E	K	+	1	0	MAGED1	51657098	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.089000	0.30890	1.634000	0.50500	0.350000	0.21858	AAG		0.458	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		G	51640358	A	G	51640358	3	3	325	1	0	0	0	0	1	0	0	0	9185	131	5	3	1663	3	MAGED1	23	51640358	Missense_Mutation	SNP	A	TCGA-BP-4174-01A-02D-1366-10		51640358	103630202	39	19067											
NRK	203447	hgsc.bcm.edu;ucsc.edu	37	X	105132390	105132390	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4174-01A-02D-1366-10	TCGA-BP-4174-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	17bc5432-4fe4-4b0b-a99f-760bee5b9d15	65b270c5-362f-4159-9372-96a1abc44391	g.chrX:105132390C>G	ENST00000243300.9	+	5	659	c.356C>G	c.(355-357)cCt>cGt	p.P119R	NRK_ENST00000536164.1_Missense_Mutation_p.P119R|NRK_ENST00000428173.2_Missense_Mutation_p.P119R	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTGAGTCCCCCTGGTCAGCGG	0.398										HNSCC(51;0.14)																																						0													110	86	94					X																	105132390		1877	4101	5978	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.356C>G	X.37:g.105132390C>G	ENSP00000434830:p.Pro119Arg		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	C	18.06	3.540307	0.65085	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.79033	-1.22;-1.23;0.81	5.1	4.22	0.49857	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.355441	0.20791	N	0.085609	T	0.73892	0.3645	N	0.12887	0.27	0.80722	D	1	D	0.58970	0.984	P	0.60541	0.876	T	0.76828	-0.2815	10	0.62326	D	0.03	.	11.0482	0.47872	0.0:0.9057:0.0:0.0943	.	119	Q7Z2Y5	NRK_HUMAN	R	119	ENSP00000434830:P119R;ENSP00000438378:P119R;ENSP00000438785:P119R	ENSP00000434830:P119R	P	+	2	0	NRK	105019046	0.983000	0.35010	0.997000	0.53966	0.996000	0.88848	3.928000	0.56506	2.241000	0.73720	0.594000	0.82650	CCT		0.398	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		G	105132390	C	G	105132390	3	3	325	1	0	0	0	0	1	0	0	0	10657	681	24	4	374	4	NRK	23	105132390	Missense_Mutation	SNP	C	TCGA-BP-4174-01A-02D-1366-10	53492032	105132390	50138170	40	19068											
NBPF3	84224	hgsc.bcm.edu	37	1	21798206	21798206	+	Silent	SNP	A	A	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:21798206A>G	ENST00000318249.5	+	5	941	c.591A>G	c.(589-591)ggA>ggG	p.G197G	NBPF3_ENST00000342104.5_Silent_p.G197G|NBPF3_ENST00000454000.2_Silent_p.G127G|NBPF3_ENST00000318220.6_Silent_p.G141G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	197						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACTCCCAGGGACGGGACCTCC	0.592																																																0													80	89	86					1																	21798206		2203	4300	6503	SO:0001819	synonymous_variant	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.591A>G	1.37:g.21798206A>G			A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	CCDS216.1																																																																																				0.592	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		G	21798206	A	G	21798206	2	3	326	1	0	0	0	0	0	0	0	1	10199	262	10	3		3	NBPF3	1	21798206	Silent	SNP	A	TCGA-BP-4176-01A-02D-1366-10		21798206	227452415	1	19069											
NBPF3	84224	hgsc.bcm.edu	37	1	21808128	21808128	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:21808128A>T	ENST00000318249.5	+	13	1822	c.1472A>T	c.(1471-1473)gAc>gTc	p.D491V	NBPF3_ENST00000342104.5_Missense_Mutation_p.D479V|NBPF3_ENST00000454000.2_Missense_Mutation_p.D421V|NBPF3_ENST00000318220.6_Missense_Mutation_p.D435V	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	491	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGCCTGAGGACTTGCAGGAC	0.488																																																0													62	73	70					1																	21808128		2202	4298	6500	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1472A>T	1.37:g.21808128A>T	ENSP00000316782:p.Asp491Val		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.636860	0.00007	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.02103	4.45;4.45;4.45;4.45;4.45	0.766	-1.53	0.08611	DUF1220 (2);	.	.	.	.	T	0.00468	0.0015	N	0.00102	-2.13	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.36817	-0.9732	9	0.02654	T	1	.	2.1133	0.03708	0.2551:0.3586:0.0:0.3863	.	421;479;491	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	V	421;435;491;479;435	ENSP00000415711:D421V;ENSP00000316739:D435V;ENSP00000316782:D491V;ENSP00000340336:D479V;ENSP00000391865:D435V	ENSP00000316739:D435V	D	+	2	0	NBPF3	21680715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.375000	0.07475	-1.691000	0.01430	-2.159000	0.00328	GAC		0.488	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		T	21808128	A	T	21808128	3	4	326	1	0	0	0	0	1	0	0	0	10199	275	10	5	1518	5	NBPF3	1	21808128	Missense_Mutation	SNP	A	TCGA-BP-4176-01A-02D-1366-10	9922	21808128	227442493	2	19070											
AMY1A	277	hgsc.bcm.edu	37	1	104233933	104233933	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:104233933A>G	ENST00000330330.5	-	8	1378	c.1084T>C	c.(1084-1086)Tat>Cat	p.Y362H	AMY1B_ENST00000370080.3_Missense_Mutation_p.Y362H|AMY1B_ENST00000464691.1_5'Flank	NM_001008218.1	NP_001008219.1	P04745	AMY1_HUMAN	amylase, alpha 1B (salivary)	362					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TTTTCAAAATATCTTGGCCAA	0.328																																																0													3	4	4					1																	104233933		195	814	1009	SO:0001583	missense	277				CCDS30783.1	1p21	2012-10-02	2007-05-03		ENSG00000174876	ENSG00000174876	3.2.1.1		475	protein-coding gene	gene with protein product		104701	"amylase, alpha 1B; salivary"	AMY1			Standard	XM_005270758		Approved			P04745	OTTHUMG00000011021	ENST00000330330.5:c.1084T>C	1.37:g.104233933A>G	ENSP00000330484:p.Tyr362His		A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP	ENST00000330330.5	37	CCDS30783.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-4.283957	0.00001	.	.	ENSG00000174876	ENST00000416771;ENST00000370080;ENST00000330330	.	.	.	2.08	-4.16	0.03869	.	0.580895	0.19056	N	0.123899	T	0.03220	0.0094	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23655	-1.0182	6	0.09084	T	0.74	.	5.8178	0.18506	0.4117:0.0:0.3565:0.2317	.	.	.	.	H	362	.	ENSP00000330484:Y362H	Y	-	1	0	AMY1B	104035456	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.777000	0.00775	-4.695000	0.00036	-3.130000	0.00060	TAT		0.328	AMY1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030309.1	NM_001008218		G	104233933	A	G	104233933	3	3	326	1	0	0	0	0	1	0	0	0	591	449	16	3	2043	3	AMY1A	1	104233933	Missense_Mutation	SNP	A	TCGA-BP-4176-01A-02D-1366-10	82425805	104233933	145016688	3	19071											
SPAG17	200162	hgsc.bcm.edu;ucsc.edu	37	1	118658052	118658052	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:118658052C>G	ENST00000336338.5	-	4	393	c.328G>C	c.(328-330)Gca>Cca	p.A110P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	110						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTGCTTTTGCTGCCGTTAAC	0.343																																																0													53	58	56					1																	118658052		2202	4299	6501	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.328G>C	1.37:g.118658052C>G	ENSP00000337804:p.Ala110Pro		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034382	0.75617	.	.	ENSG00000155761	ENST00000336338	T	0.74947	-0.89	5.92	5.02	0.67125	.	0.048946	0.85682	D	0.000000	T	0.80248	0.4588	M	0.72118	2.19	0.35275	D	0.780781	D	0.71674	0.998	D	0.67548	0.952	D	0.84430	0.0576	10	0.72032	D	0.01	.	14.2407	0.65954	0.0:0.9289:0.0:0.0711	.	110	Q6Q759	SPG17_HUMAN	P	110	ENSP00000337804:A110P	ENSP00000337804:A110P	A	-	1	0	SPAG17	118459575	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	3.398000	0.52579	1.522000	0.49001	0.655000	0.94253	GCA		0.343	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		G	118658052	C	G	118658052	3	3	326	1	0	0	0	0	1	0	0	0	14985	797	28	4	6523	4	SPAG17	1	118658052	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	14424119	118658052	130592569	4	19072											
FCGR1B	2210	hgsc.bcm.edu	37	1	120927292	120927292	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:120927292T>C	ENST00000369384.4	-	5	730	c.688A>G	c.(688-690)Aat>Gat	p.N230D	FCGR1B_ENST00000472543.1_5'Flank|FCGR1B_ENST00000369383.4_Missense_Mutation_p.N138D|RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	230					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)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	ATTTCTAAATTCCACTTTTTC	0.363																																																0													5	6	6					1																	120927292		1801	3770	5571	SO:0001583	missense	2210				CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3614	protein-coding gene	gene with protein product		601502	"Fc fragment of IgG, high affinity Ib, receptor for (CD64)"			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.688A>G	1.37:g.120927292T>C	ENSP00000358391:p.Asn230Asp		Q7KZ13|Q92638	Missense_Mutation	SNP	ENST00000369384.4	37	CCDS30821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.72|11.72	1.721600|1.721600	0.30503|0.30503	.|.	.|.	ENSG00000198019|ENSG00000198019	ENST00000369178|ENST00000369384;ENST00000369383	.|T;T	.|0.03860	.|5.02;3.78	1.96|1.96	0.723|0.723	0.18231|0.18231	.|.	.|3.080580	.|0.01490	.|N	.|0.017043	T|T	0.01222|0.01222	0.0040|0.0040	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|P;B	.|0.51057	.|0.941;0.057	.|B;B	.|0.40134	.|0.32;0.015	T|T	0.39643|0.39643	-0.9604|-0.9604	5|10	.|0.25751	.|T	.|0.34	.|.	4.0064|4.0064	0.09603|0.09603	0.3193:0.0:0.0:0.6807|0.3193:0.0:0.0:0.6807	.|.	.|138;230	.|Q92637-3;Q92637	.|.;FCGRB_HUMAN	G|D	214|230;138	.|ENSP00000358391:N230D;ENSP00000358390:N138D	.|ENSP00000358390:N138D	E|N	-|-	2|1	0|0	FCGR1B|FCGR1B	120728815|120728815	0.002000|0.002000	0.14202|0.14202	0.229000|0.229000	0.23960|0.23960	0.637000|0.637000	0.38172|0.38172	0.025000|0.025000	0.13577|0.13577	0.193000|0.193000	0.20303|0.20303	0.155000|0.155000	0.16302|0.16302	GAA|AAT		0.363	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1			C	120927292	T	C	120927292	3	2	326	1	0	0	0	0	1	0	0	0	5782	1783	62	3	158	3	FCGR1B	1	120927292	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	2269240	120927292	128323329	5	19073											
HAX1	10456	hgsc.bcm.edu;ucsc.edu	37	1	154247938	154247938	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:154247938G>C	ENST00000328703.7	+	6	946	c.733G>C	c.(733-735)Gca>Cca	p.A245P	HAX1_ENST00000532105.1_Missense_Mutation_p.A117P|HAX1_ENST00000483970.2_Missense_Mutation_p.A253P|HAX1_ENST00000457918.2_Missense_Mutation_p.A197P	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	245	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGACACGAAGCAGATAGCAG	0.502									Kostmann syndrome																																							0													134	140	138					1																	154247938		2203	4300	6503	SO:0001583	missense	10456	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"HCLS1 (and PKD2) associated protein"	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.733G>C	1.37:g.154247938G>C	ENSP00000329002:p.Ala245Pro		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532569	0.85812	.	.	ENSG00000143575	ENST00000328703;ENST00000457918;ENST00000483970;ENST00000435087;ENST00000532105	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.13	3.24	0.37175	.	0.295351	0.31102	N	0.008249	T	0.71005	0.3289	M	0.76002	2.32	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.992;0.999	T	0.62666	-0.6806	10	0.38643	T	0.18	-1.5588	7.7283	0.28773	0.0892:0.1649:0.7459:0.0	.	253;219;197;245	O00165-2;O00165-3;O00165-5;O00165	.;.;.;HAX1_HUMAN	P	245;197;253;249;117	ENSP00000329002:A245P;ENSP00000411448:A197P;ENSP00000435088:A253P;ENSP00000394920:A249P;ENSP00000433951:A117P	ENSP00000329002:A245P	A	+	1	0	HAX1	152514562	0.850000	0.29656	0.008000	0.14137	0.535000	0.34838	2.097000	0.41748	0.539000	0.28788	0.563000	0.77884	GCA		0.502	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		C	154247938	G	C	154247938	3	2	326	1	0	0	0	0	1	0	0	0	6977	971	34	4	755	4	HAX1	1	154247938	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	33320646	154247938	95002683	6	19074											
C1orf66	51093	hgsc.bcm.edu	37	1	156706497	156706497	+	Silent	SNP	G	G	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:156706497G>A	ENST00000368216.4	+	8	2010	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	RRNAD1_ENST00000481920.1_3'UTR|RRNAD1_ENST00000476229.1_3'UTR|MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000368218.4_3'UTR	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	460						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TGGCCACCAAGATGCCCCTGG	0.537																																																0													79	73	75					1																	156706497		2203	4300	6503	SO:0001819	synonymous_variant	51093			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1380G>A	1.37:g.156706497G>A			D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Silent	SNP	ENST00000368216.4	37	CCDS1154.1																																																																																				0.537	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		A	156706497	G	A	156706497	2	1	326	1	0	0	0	0	0	0	0	1	2058	933	33	2		2	C1orf66	1	156706497	Silent	SNP	G	TCGA-BP-4176-01A-02D-1366-10	2458559	156706497	92544124	7	19075											
ARHGEF11	9826	hgsc.bcm.edu	37	1	156907115	156907115	+	Missense_Mutation	SNP	T	T	C	rs868188	byFrequency	TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:156907115T>C	ENST00000361409.2	-	38	4988	c.4246A>G	c.(4246-4248)Agc>Ggc	p.S1416G	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S832G|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S1456G|ARHGEF11_ENST00000487682.1_5'UTR|MIR765_ENST00000390226.1_RNA	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1416			S -> G (in dbSNP:rs868188).		actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGGCCAGGCTTGGAGGAGAG	0.627													T|||	2036	0.40655	0.2284	0.5014	5008	,	,		18795	0.5169		0.3569	False		,,,				2504	0.5174															0			GRCh37	CM061640	ARHGEF11	M	rs868188	T	GLY/SER,GLY/SER	987,3419	366.4+/-317.8	106,775,1322	64	62	63		4246,4366	0.5	0.1	1	dbSNP_86	63	3067,5533	465.4+/-366.5	557,1953,1790	yes	missense,missense	ARHGEF11	NM_014784.2,NM_198236.1	56,56	663,2728,3112	CC,CT,TT		35.6628,22.4013,31.1702	probably-damaging,probably-damaging	1416/1523,1456/1563	156907115	4054,8952	2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4246A>G	1.37:g.156907115T>C	ENSP00000354644:p.Ser1416Gly		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	805	0.3685897435897436	109	0.22154471544715448	149	0.4116022099447514	272	0.4755244755244755	275	0.3627968337730871	T	6.223	0.409363	0.11812	0.224013	0.356628	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.68624	-0.34;-0.33;-0.23	4.15	0.503	0.16940	.	0.558310	0.17430	N	0.174513	T	0.31136	0.0787	L	0.29908	0.895	0.37737	P	0.07450400000000001	B;B;B	0.10296	0.003;0.0;0.003	B;B;B	0.13407	0.009;0.001;0.008	T	0.05007	-1.0912	9	0.59425	D	0.04	-4.126	7.6539	0.28365	0.0:0.2703:0.0:0.7297	rs868188	832;1416;1456	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	G	1456;1416;832	ENSP00000357177:S1456G;ENSP00000354644:S1416G;ENSP00000313470:S832G	ENSP00000313470:S832G	S	-	1	0	ARHGEF11	155173739	0.657000	0.27393	0.107000	0.21349	0.140000	0.21249	1.112000	0.31172	-0.078000	0.12730	-0.379000	0.06801	AGC		0.627	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		C	156907115	T	C	156907115	3	2	326	1	0	0	0	0	1	0	0	0	896	1609	56	3	334	3	ARHGEF11	1	156907115	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	200618	156907115	92343506	8	19076											
BAT2L2	23215	hgsc.bcm.edu	37	1	171509616	171509616	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:171509616G>T	ENST00000338920.4	+	16	3242	c.3005G>T	c.(3004-3006)aGg>aTg	p.R1002M	PRRC2C_ENST00000426496.2_Missense_Mutation_p.R1002M|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R1004M|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R1004M	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1002					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TCTAACAGAAGGGAAGAAGTT	0.403																																																0													26	26	26					1																	171509616		2202	4300	6502	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3005G>T	1.37:g.171509616G>T	ENSP00000343629:p.Arg1002Met		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021386	0.35701	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.98	5.98	0.97165	.	0.000000	0.50627	D	0.000108	T	0.16557	0.0398	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01352	-1.1377	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1002	Q9Y520-4	.	M	1004;1003;1002;1004;1002;759;761	ENSP00000375928:R1004M;ENSP00000410219:R1002M;ENSP00000356716:R1004M;ENSP00000343629:R1002M	ENSP00000343629:R1002M	R	+	2	0	PRRC2C	169776240	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.588000	0.82629	2.835000	0.97688	0.650000	0.86243	AGG		0.403	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		T	171509616	G	T	171509616	3	4	326	1	0	0	0	0	1	0	0	0	1321	1000	35	4	3063	4	BAT2L2	1	171509616	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	14602501	171509616	77741005	9	19077											
FAM129A	116496	hgsc.bcm.edu;ucsc.edu	37	1	184859254	184859254	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:184859254G>T	ENST00000367511.3	-	4	614	c.421C>A	c.(421-423)Cca>Aca	p.P141T		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	141					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGAGGGTCTGGGAAATGCCTG	0.448																																																0													93	90	91					1																	184859254		2203	4300	6503	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.421C>A	1.37:g.184859254G>T	ENSP00000356481:p.Pro141Thr		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194270	0.78902	.	.	ENSG00000135842	ENST00000367511	T	0.15487	2.42	5.71	5.71	0.89125	.	0.054186	0.85682	D	0.000000	T	0.40297	0.1111	M	0.62723	1.935	0.48452	D	0.999655	D	0.89917	1.0	D	0.91635	0.999	T	0.09100	-1.0690	10	0.72032	D	0.01	-6.3917	15.358	0.74443	0.0:0.0:1.0:0.0	.	141	Q9BZQ8	NIBAN_HUMAN	T	141	ENSP00000356481:P141T	ENSP00000356481:P141T	P	-	1	0	FAM129A	183125877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.784000	0.68990	2.687000	0.91594	0.655000	0.94253	CCA		0.448	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			T	184859254	G	T	184859254	3	4	326	1	0	0	0	0	1	0	0	0	5438	1232	43	4	2409	4	FAM129A	1	184859254	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	13349638	184859254	64391367	10	19078											
HMCN1	83872	hgsc.bcm.edu	37	1	185704113	185704113	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:185704113G>C	ENST00000271588.4	+	1	431	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.E68Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	68	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAAATTTTGGAGACGTCTTT	0.413																																																0													109	114	113					1																	185704113		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.202G>C	1.37:g.185704113G>C	ENSP00000271588:p.Glu68Gln		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171751	0.94807	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.13089	2.62;2.62	5.7	5.7	0.88788	von Willebrand factor, type A (1);	0.000000	0.64402	D	0.000003	T	0.27489	0.0675	N	0.21324	0.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02975	-1.1087	10	0.72032	D	0.01	.	19.4334	0.94781	0.0:0.0:1.0:0.0	.	68	Q96RW7	HMCN1_HUMAN	Q	68	ENSP00000271588:E68Q;ENSP00000356462:E68Q	ENSP00000271588:E68Q	E	+	1	0	HMCN1	183970736	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.638000	0.98445	2.683000	0.91414	0.650000	0.86243	GAG		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	185704113	G	C	185704113	3	2	326	1	0	0	0	0	1	0	0	0	7222	1175	41	4	204	4	HMCN1	1	185704113	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	844859	185704113	63546508	11	19079											
ITPKB	3707	hgsc.bcm.edu	37	1	226924364	226924364	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:226924364G>A	ENST00000272117.3	-	1	795	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	ITPKB_ENST00000366784.1_Missense_Mutation_p.R266C|ITPKB_ENST00000429204.1_Missense_Mutation_p.R266C			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	266					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GAGCCACAGCGGGGACTGGCA	0.602																																					Colon(84;110 1851 5306 33547)											0													47	48	48					1																	226924364		2203	4299	6502	SO:0001583	missense	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.796C>T	1.37:g.226924364G>A	ENSP00000272117:p.Arg266Cys		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	g	8.979	0.974860	0.18736	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.28454	1.67;1.67;1.61	4.27	0.0109	0.14085	.	1.620900	0.03342	N	0.194925	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26087	-1.0113	10	0.54805	T	0.06	.	5.4736	0.16684	0.2722:0.1474:0.5804:0.0	.	266	P27987	IP3KB_HUMAN	C	266	ENSP00000272117:R266C;ENSP00000411152:R266C;ENSP00000355748:R266C	ENSP00000272117:R266C	R	-	1	0	ITPKB	224990987	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.190000	0.32126	0.203000	0.20529	-0.993000	0.02533	CGC		0.602	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		A	226924364	G	A	226924364	3	1	326	1	0	0	0	0	1	0	0	0	7920	1116	39	1	2072	1	ITPKB	1	226924364	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	41220251	226924364	22326257	12	19080											
TARBP1	6894	hgsc.bcm.edu;ucsc.edu	37	1	234563467	234563467	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:234563467A>C	ENST00000040877.1	-	18	3105	c.3106T>G	c.(3106-3108)Ttc>Gtc	p.F1036V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1036					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGTGTATTGAAGACTCCAGTC	0.318																																																0													76	76	76					1																	234563467		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3106T>G	1.37:g.234563467A>C	ENSP00000040877:p.Phe1036Val		Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008979	0.75046	.	.	ENSG00000059588	ENST00000040877	T	0.30981	1.51	4.9	3.78	0.43462	Armadillo-type fold (1);	0.156175	0.64402	D	0.000020	T	0.31949	0.0813	M	0.71581	2.175	0.51482	D	0.999925	P	0.46621	0.881	B	0.39805	0.31	T	0.17806	-1.0357	10	0.56958	D	0.05	-9.7578	10.6202	0.45476	0.924:0.0:0.076:0.0	.	1036	Q13395	TARB1_HUMAN	V	1036	ENSP00000040877:F1036V	ENSP00000040877:F1036V	F	-	1	0	TARBP1	232630090	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.745000	0.68672	1.012000	0.39366	0.533000	0.62120	TTC		0.318	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		C	234563467	A	C	234563467	3	2	326	1	0	0	0	0	1	0	0	0	15560	72	3	5	1811	5	TARBP1	1	234563467	Missense_Mutation	SNP	A	TCGA-BP-4176-01A-02D-1366-10	7639103	234563467	14687154	13	19081											
OR2M7	391196	hgsc.bcm.edu	37	1	248487282	248487282	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:248487282C>T	ENST00000317965.2	-	1	617	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAATAACCTCTTCAAATATT	0.423																																																0													238	234	235					1																	248487282		2203	4297	6500	SO:0001583	missense	391196			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.589G>A	1.37:g.248487282C>T	ENSP00000324557:p.Glu197Lys		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	0.610	-0.825308	0.02755	.	.	ENSG00000177186	ENST00000317965	T	0.00099	8.73	1.55	-3.11	0.05299	GPCR, rhodopsin-like superfamily (1);	1.250850	0.06236	U	0.689496	T	0.00073	0.0002	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.01480	-1.1344	10	0.17832	T	0.49	.	4.9652	0.14087	0.0:0.408:0.1607:0.4313	.	197	Q8NG81	OR2M7_HUMAN	K	197	ENSP00000324557:E197K	ENSP00000324557:E197K	E	-	1	0	OR2M7	246553905	0.000000	0.05858	0.011000	0.14972	0.108000	0.19459	-0.373000	0.07494	-1.025000	0.03334	-1.050000	0.02344	GAG		0.423	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		T	248487282	C	T	248487282	3	4	326	1	0	0	0	0	1	0	0	0	11016	922	32	2	352	2	OR2M7	1	248487282	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	13923815	248487282	763339	14	19082											
OR2T35	403244	hgsc.bcm.edu	37	1	248801633	248801633	+	Silent	SNP	A	A	G	rs74901534	byFrequency	TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr1:248801633A>G	ENST00000317450.3	-	1	926	c.927T>C	c.(925-927)ggT>ggC	p.G309G		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTGGGAGGAACCACATCTCC	0.542																																																0													14	5	8					1																	248801633		1962	2871	4833	SO:0001819	synonymous_variant	403244			BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"GPCR / Class A : Olfactory receptors"	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.927T>C	1.37:g.248801633A>G			Q6IEY7	Silent	SNP	ENST00000317450.3	37	CCDS31123.1																																																																																				0.542	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		G	248801633	A	G	248801633	2	3	326	1	0	0	0	0	0	0	0	1	11028	30	2	3		3	OR2T35	1	248801633	Silent	SNP	A	TCGA-BP-4176-01A-02D-1366-10	314351	248801633	448988	15	19083											
ADI1	55256	hgsc.bcm.edu	37	2	3504658	3504658	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr2:3504658C>T	ENST00000327435.6	-	3	595	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	ADI1_ENST00000382093.5_Missense_Mutation_p.R110Q	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CATGAAGATCCGGATCCACTG	0.567																																																0													230	173	192					2																	3504658		2203	4300	6503	SO:0001583	missense	55256				CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.347G>A	2.37:g.3504658C>T	ENSP00000333666:p.Arg116Gln			Missense_Mutation	SNP	ENST00000327435.6	37	CCDS1653.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912582	0.72983	.	.	ENSG00000182551	ENST00000327435;ENST00000382093	.	.	.	4.73	4.73	0.59995	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.82430	0.5035	M	0.92880	3.355	0.80722	D	1	D	0.65815	0.995	P	0.55391	0.775	D	0.86224	0.1633	9	0.46703	T	0.11	-36.4799	16.6473	0.85179	0.0:1.0:0.0:0.0	.	116	Q9BV57	MTND_HUMAN	Q	116;110	.	ENSP00000333666:R116Q	R	-	2	0	ADI1	3483665	1.000000	0.71417	0.992000	0.48379	0.140000	0.21249	7.311000	0.78958	2.339000	0.79563	0.655000	0.94253	CGG		0.567	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		T	3504658	C	T	3504658	3	4	326	1	0	0	0	0	1	0	0	0	315	652	23	1	200	1	ADI1	2	3504658	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10		3504658	239694715	16	19084											
HSPC159	29094	hgsc.bcm.edu;ucsc.edu	37	2	64682738	64682738	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr2:64682738G>T	ENST00000238875.5	+	3	578	c.124G>T	c.(124-126)Ggg>Tgg	p.G42W	LGALSL_ENST00000409537.2_Missense_Mutation_p.G42W|AC008074.3_ENST00000441630.1_RNA	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	42	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.					intracellular (GO:0005622)	carbohydrate binding (GO:0030246)										TCCATTTTGTGGGCACATTAA	0.483																																																0													119	107	111					2																	64682738		2203	4300	6503	SO:0001583	missense	0			AF161508	CCDS1877.1	2p14	2011-08-15			ENSG00000119862	ENSG00000119862			25012	protein-coding gene	gene with protein product	"galectin-related protein"					11042152, 16682780	Standard	NM_014181		Approved	HSPC159, GRP	uc002scy.4	Q3ZCW2	OTTHUMG00000129541	ENST00000238875.5:c.124G>T	2.37:g.64682738G>T	ENSP00000238875:p.Gly42Trp		B2RBG8|D6W5E8|Q6P5T6|Q9P005	Missense_Mutation	SNP	ENST00000238875.5	37	CCDS1877.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441791	0.83993	.	.	ENSG00000119862	ENST00000238875;ENST00000409537	D;D	0.97161	-4.27;-4.27	4.91	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (3);Concanavalin A-like lectin/glucanase, subgroup (1);	0.098116	0.64402	D	0.000001	D	0.98664	0.9552	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99835	1.1057	10	0.87932	D	0	-13.4538	18.0998	0.89503	0.0:0.0:1.0:0.0	.	42	Q3ZCW2	LEGL_HUMAN	W	42	ENSP00000238875:G42W;ENSP00000386242:G42W	ENSP00000238875:G42W	G	+	1	0	AC008074.1	64536242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.072000	0.93986	2.267000	0.75376	0.561000	0.74099	GGG		0.483	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251731.2	NM_014181		T	64682738	G	T	64682738	3	4	326	1	0	0	0	0	1	0	0	0	7429	1348	47	4	134	4	HSPC159	2	64682738	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	61178080	64682738	178516635	17	19085											
TEKT4	150483	hgsc.bcm.edu	37	2	95541442	95541442	+	Missense_Mutation	SNP	C	C	T	rs201206924	byFrequency	TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr2:95541442C>T	ENST00000295201.4	+	5	1183	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	349					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TACCTGCGCTCGCACCGGCCC	0.632																																																0													150	121	131					2																	95541442		2203	4300	6503	SO:0001583	missense	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1046C>T	2.37:g.95541442C>T	ENSP00000295201:p.Ser349Leu			Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	18.54	3.646771	0.67358	.	.	ENSG00000163060	ENST00000295201	T	0.02709	4.19	2.31	2.31	0.28768	.	0.289710	0.33875	N	0.004480	T	0.06872	0.0175	L	0.58101	1.795	0.80722	D	1	D	0.62365	0.991	P	0.54924	0.764	T	0.44513	-0.9323	10	0.30078	T	0.28	-9.7808	10.3248	0.43787	0.0:1.0:0.0:0.0	.	349	Q8WW24	TEKT4_HUMAN	L	349	ENSP00000295201:S349L	ENSP00000295201:S349L	S	+	2	0	TEKT4	94905169	0.094000	0.21725	0.968000	0.41197	0.447000	0.32167	2.536000	0.45693	1.314000	0.45095	0.281000	0.19383	TCG		0.632	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		T	95541442	C	T	95541442	3	4	326	1	0	0	0	0	1	0	0	0	15760	893	31	1	1064	1	TEKT4	2	95541442	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	30858704	95541442	147657931	18	19086											
MAP4K4	9448	hgsc.bcm.edu;ucsc.edu	37	2	102490653	102490653	+	Silent	SNP	C	C	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr2:102490653C>A	ENST00000347699.4	+	23	2745	c.2745C>A	c.(2743-2745)acC>acA	p.T915T	MAP4K4_ENST00000324219.4_Silent_p.T996T|MAP4K4_ENST00000350878.4_Silent_p.T955T|MAP4K4_ENST00000456652.1_Silent_p.T714T|MAP4K4_ENST00000350198.4_Silent_p.T834T|MAP4K4_ENST00000425019.1_Silent_p.T948T|MAP4K4_ENST00000302217.5_Silent_p.T718T|MAP4K4_ENST00000413150.2_Silent_p.T830T	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	915	Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAGTGACACCCCGGAGATTC	0.478																																																0													117	115	116					2																	102490653		1939	4140	6079	SO:0001819	synonymous_variant	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2745C>A	2.37:g.102490653C>A			O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	9.140	1.013706	0.19277	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.58366	0.2117	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56992	-0.7887	4	.	.	.	.	8.0178	0.30391	0.2765:0.649:0.0:0.0745	.	.	.	.	T	732	.	.	P	+	1	0	MAP4K4	101857085	0.888000	0.30383	1.000000	0.80357	0.994000	0.84299	-0.088000	0.11198	2.551000	0.86045	0.655000	0.94253	CCC		0.478	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		A	102490653	C	A	102490653	2	1	326	1	0	0	0	0	0	0	0	1	9264	610	22	4		4	MAP4K4	2	102490653	Silent	SNP	C	TCGA-BP-4176-01A-02D-1366-10	6949211	102490653	140708720	19	19087											
MCM6	4175	hgsc.bcm.edu	37	2	136626383	136626383	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr2:136626383C>A	ENST00000264156.2	-	4	473	c.413G>T	c.(412-414)aGt>aTt	p.S138I		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	138					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CACCTGCCCACTGATGCGAGT	0.473																																					Ovarian(196;141 2104 8848 24991 25939)											0													113	106	109					2																	136626383		2203	4300	6503	SO:0001583	missense	4175				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.413G>T	2.37:g.136626383C>A	ENSP00000264156:p.Ser138Ile		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958286	0.92726	.	.	ENSG00000076003	ENST00000264156	T	0.13089	2.62	5.63	4.75	0.60458	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.035719	0.85682	D	0.000000	T	0.36358	0.0964	M	0.90977	3.165	0.80722	D	1	P	0.47034	0.889	P	0.49561	0.615	T	0.51332	-0.8719	10	0.54805	T	0.06	-17.3369	16.6586	0.85235	0.0:0.8702:0.1298:0.0	.	138	Q14566	MCM6_HUMAN	I	138	ENSP00000264156:S138I	ENSP00000264156:S138I	S	-	2	0	MCM6	136342853	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.666000	0.83877	1.365000	0.46057	0.557000	0.71058	AGT		0.473	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		A	136626383	C	A	136626383	3	1	326	1	0	0	0	0	1	0	0	0	9393	565	20	4	2108	4	MCM6	2	136626383	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	34135730	136626383	106572990	20	19088											
SESTD1	91404	hgsc.bcm.edu	37	2	179997085	179997085	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr2:179997085A>C	ENST00000428443.3	-	10	1234	c.918T>G	c.(916-918)atT>atG	p.I306M		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	306							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGGAGGCCCTAATGGAGTCTC	0.458																																																0													173	185	181					2																	179997085		2203	4300	6503	SO:0001583	missense	91404			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.918T>G	2.37:g.179997085A>C	ENSP00000415332:p.Ile306Met		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508001	0.44558	.	.	ENSG00000187231	ENST00000428443	T	0.35789	1.29	6.0	-10.5	0.00291	.	0.085529	0.85682	D	0.000000	T	0.12008	0.0292	N	0.03608	-0.345	0.31670	N	0.64452	B	0.18461	0.028	B	0.11329	0.006	T	0.14643	-1.0465	9	.	.	.	-14.8141	17.6689	0.88211	0.1968:0.0:0.7157:0.0875	.	306	Q86VW0	SESD1_HUMAN	M	306	ENSP00000415332:I306M	.	I	-	3	3	SESTD1	179705330	0.001000	0.12720	0.383000	0.26132	0.973000	0.67179	-1.137000	0.03219	-1.972000	0.01001	-0.312000	0.09012	ATT		0.458	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		C	179997085	A	C	179997085	3	2	326	1	0	0	0	0	1	0	0	0	14133	358	13	5	1208	5	SESTD1	2	179997085	Missense_Mutation	SNP	A	TCGA-BP-4176-01A-02D-1366-10	43370702	179997085	63202288	21	19089											
SLC39A10	57181	hgsc.bcm.edu;ucsc.edu	37	2	196593015	196593015	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr2:196593015C>G	ENST00000409086.3	+	9	2554	c.2279C>G	c.(2278-2280)aCa>aGa	p.T760R	SLC39A10_ENST00000541054.1_Missense_Mutation_p.T310R|SLC39A10_ENST00000359634.5_Missense_Mutation_p.T760R	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	760					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AATAACATCACACTTTGGATC	0.408																																																0													253	216	229					2																	196593015		2203	4300	6503	SO:0001583	missense	57181				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.2279C>G	2.37:g.196593015C>G	ENSP00000386766:p.Thr760Arg		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158092	0.78114	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.50548	0.74;0.74;0.74	5.4	4.53	0.55603	.	0.045219	0.85682	D	0.000000	T	0.57417	0.2052	L	0.52573	1.65	0.80722	D	1	P	0.50819	0.939	P	0.58130	0.833	T	0.56805	-0.7918	10	0.40728	T	0.16	.	14.1635	0.65461	0.0:0.9285:0.0:0.0715	.	760	Q9ULF5	S39AA_HUMAN	R	760;760;310	ENSP00000386766:T760R;ENSP00000352655:T760R;ENSP00000437787:T310R	ENSP00000352655:T760R	T	+	2	0	SLC39A10	196301260	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	7.604000	0.82830	1.527000	0.49086	0.655000	0.94253	ACA		0.408	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		G	196593015	C	G	196593015	3	3	326	1	0	0	0	0	1	0	0	0	14619	478	17	4	2309	4	SLC39A10	2	196593015	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	16595930	196593015	46606358	22	19090											
SF3B1	23451	hgsc.bcm.edu;ucsc.edu	37	2	198257042	198257042	+	Silent	SNP	A	A	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr2:198257042A>C	ENST00000335508.6	-	25	3991	c.3900T>G	c.(3898-3900)ctT>ctG	p.L1300L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1300					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGATATAGTCAAGTTCATAAC	0.323			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													86	88	87					2																	198257042		2203	4300	6503	SO:0001819	synonymous_variant	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3900T>G	2.37:g.198257042A>C			E9PCH3	Silent	SNP	ENST00000335508.6	37	CCDS33356.1																																																																																				0.323	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			C	198257042	A	C	198257042	2	2	326	1	0	0	0	0	0	0	0	1	14155	117	5	5		5	SF3B1	2	198257042	Silent	SNP	A	TCGA-BP-4176-01A-02D-1366-10	1664027	198257042	44942331	23	19091											
MARS2	92935	hgsc.bcm.edu	37	2	198571042	198571042	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr2:198571042T>G	ENST00000282276.6	+	1	956	c.913T>G	c.(913-915)Tct>Gct	p.S305A	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	305					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCCGGCCACCTCTCATATCAT	0.517																																																0													79	83	82					2																	198571042		2203	4300	6503	SO:0001583	missense	92935			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.913T>G	2.37:g.198571042T>G	ENSP00000282276:p.Ser305Ala		A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	T	7.522	0.656864	0.14580	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.44482	0.92	5.26	2.42	0.29668	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.379769	0.28821	N	0.014035	T	0.12178	0.0296	N	0.01122	-1.005	0.21220	N	0.99975	B	0.11235	0.004	B	0.09377	0.004	T	0.11743	-1.0575	10	0.41790	T	0.15	-1.4985	1.9816	0.03427	0.1609:0.0992:0.166:0.5739	.	305	Q96GW9	SYMM_HUMAN	A	305;232	ENSP00000282276:S305A	ENSP00000282276:S305A	S	+	1	0	MARS2	198279287	0.990000	0.36364	0.821000	0.32701	0.996000	0.88848	2.450000	0.44943	0.798000	0.33994	0.533000	0.62120	TCT		0.517	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		G	198571042	T	G	198571042	3	3	326	1	0	0	0	0	1	0	0	0	9319	1551	54	5	915	5	MARS2	2	198571042	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	314000	198571042	44628331	24	19092											
TRANK1	9881	hgsc.bcm.edu;ucsc.edu	37	3	36872707	36872707	+	Silent	SNP	C	C	T	rs368926806		TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr3:36872707C>T	ENST00000429976.2	-	21	8482	c.8235G>A	c.(8233-8235)gcG>gcA	p.A2745A	TRANK1_ENST00000428977.2_Silent_p.A2195A|TRANK1_ENST00000301807.6_Silent_p.A2195A	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2745							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCCCTCAAACGCTTTGCTGG	0.557													c|||	1	0.000199681	0.0	0.0	5008	,	,		20849	0.001		0.0	False		,,,				2504	0.0															0								C		1,3999		0,1,1999	69	70	70		8235	-9	0	3		70	6,8316		0,6,4155	no	coding-synonymous	TRANK1	NM_014831.2		0,7,6154	TT,TC,CC		0.0721,0.025,0.0568		2745/2926	36872707	7,12315	2000	4161	6161	SO:0001819	synonymous_variant	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8235G>A	3.37:g.36872707C>T			Q8N8K0	Silent	SNP	ENST00000429976.2	37	CCDS46789.2																																																																																				0.557	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		T	36872707	C	T	36872707	2	4	326	1	0	0	0	0	0	0	0	1	16459	523	19	1		1	TRANK1	3	36872707	Silent	SNP	C	TCGA-BP-4176-01A-02D-1366-10		36872707	161149723	25	19093											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52584502	52584502	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr3:52584502A>G	ENST00000296302.7	-	29	4833	c.4832T>C	c.(4831-4833)cTg>cCg	p.L1611P	PBRM1_ENST00000409767.1_Missense_Mutation_p.L1519P|PBRM1_ENST00000410007.1_Missense_Mutation_p.L1531P|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1504P|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1504P|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1556P|RNU6-856P_ENST00000516959.1_RNA|PBRM1_ENST00000356770.4_Missense_Mutation_p.L1524P|PBRM1_ENST00000409114.3_Missense_Mutation_p.L1574P			Q86U86	PB1_HUMAN	polybromo 1	1611					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATGTATTTCAGGTAGGCCTC	0.502			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													72	72	72					3																	52584502		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4832T>C	3.37:g.52584502A>G	ENSP00000296302:p.Leu1611Pro		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	18.39	3.612900	0.66672	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767	T;T;T;T;T;T;T;T	0.56275	0.49;0.5;0.59;0.56;0.47;0.49;1.07;0.56	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.72187	0.3429	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.998;0.999;0.999	D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999;0.995;0.998;0.998	T	0.75557	-0.3276	10	0.87932	D	0	-7.3077	15.9958	0.80243	1.0:0.0:0.0:0.0	.	1531;1504;1556;1574;1519;1611;1524;1504	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	P	1524;1504;1611;1504;1556;1531;1574;1519	ENSP00000349213:L1524P;ENSP00000378307:L1504P;ENSP00000296302:L1611P;ENSP00000338302:L1504P;ENSP00000386593:L1556P;ENSP00000386529:L1531P;ENSP00000386643:L1574P;ENSP00000386601:L1519P	ENSP00000296302:L1611P	L	-	2	0	PBRM1	52559542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	CTG		0.502	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		G	52584502	A	G	52584502	3	3	326	1	0	0	0	0	1	0	0	0	11493	188	7	3	245	3	PBRM1	3	52584502	Missense_Mutation	SNP	A	TCGA-BP-4176-01A-02D-1366-10	15711795	52584502	145437928	26	19094											
EPHA3	2042	hgsc.bcm.edu	37	3	89468539	89468539	+	Splice_Site	SNP	A	A	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr3:89468539A>T	ENST00000336596.2	+	11	2298	c.2073A>T	c.(2071-2073)aaA>aaT	p.K691N	EPHA3_ENST00000494014.1_Splice_Site_p.K691N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	691	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGTTACCAAAAGTAAGTAAA	0.408										TSP Lung(6;0.00050)																																						0													89	85	86					3																	89468539		2203	4297	6500	SO:0001630	splice_region_variant	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2074+1A>T	3.37:g.89468539A>T			Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986729	0.53934	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.83335	-1.71;-1.71	5.71	1.92	0.25849	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.053681	0.64402	D	0.000001	T	0.71204	0.3312	N	0.21240	0.645	0.51482	D	0.999925	P	0.40066	0.701	B	0.41691	0.364	T	0.61983	-0.6950	9	.	.	.	.	9.6426	0.39848	0.7993:0.0:0.2007:0.0	.	691	P29320	EPHA3_HUMAN	N	691	ENSP00000337451:K691N;ENSP00000419190:K691N	.	K	+	3	2	EPHA3	89551229	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	1.885000	0.39678	0.093000	0.17368	0.460000	0.39030	AAA		0.408	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Missense_Mutation	T	89468539	A	T	89468539	5	4	326	1	0	0	0	0	0	0	1	0	5170	28	1	5	2141	5	EPHA3	3	89468539	Splice_Site	SNP	A	TCGA-BP-4176-01A-02D-1366-10	36884037	89468539	108553891	27	19095											
CASR	846	hgsc.bcm.edu;ucsc.edu	37	3	121980855	121980855	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr3:121980855G>A	ENST00000490131.1	+	4	1345	c.973G>A	c.(973-975)Ggg>Agg	p.G325R	CASR_ENST00000498619.1_Missense_Mutation_p.G325R|CASR_ENST00000296154.5_Missense_Mutation_p.G325R	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	325					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGAAGGCTGGGCAGATCCC	0.562																																																0													53	49	50					3																	121980855		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.973G>A	3.37:g.121980855G>A	ENSP00000418685:p.Gly325Arg		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918028	0.92249	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.83163	-1.69;-1.69;-1.69	6.17	6.17	0.99709	Extracellular ligand-binding receptor (1);	0.085942	0.85682	D	0.000000	D	0.90007	0.6880	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.982	D	0.89649	0.3868	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	325;325	E7ENE0;P41180	.;CASR_HUMAN	R	325	ENSP00000418685:G325R;ENSP00000420194:G325R;ENSP00000296154:G325R	ENSP00000296154:G325R	G	+	1	0	CASR	123463545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGG		0.562	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		A	121980855	G	A	121980855	3	1	326	1	0	0	0	0	1	0	0	0	2684	1348	47	2	983	2	CASR	3	121980855	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	32512316	121980855	76041575	28	19096											
ATR	545	hgsc.bcm.edu	37	3	142254950	142254950	+	Splice_Site	SNP	C	C	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr3:142254950C>A	ENST00000350721.4	-	20	3940	c.3819G>T	c.(3817-3819)aaG>aaT	p.K1273N	ATR_ENST00000383101.3_Splice_Site_p.K1209N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1273					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATTAAATACCTTTCTGTATT	0.308								Other conserved DNA damage response genes																																								0													42	49	47					3																	142254950		2143	4263	6406	SO:0001630	splice_region_variant	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3819+1G>T	3.37:g.142254950C>A			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041057	0.55003	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.68765	-0.35;-0.35	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	L	0.45581	1.43	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.71994	-0.4424	9	.	.	.	-15.7472	12.9064	0.58154	0.0:0.9257:0.0:0.0743	.	1273	Q13535	ATR_HUMAN	N	1273;1209	ENSP00000343741:K1273N;ENSP00000372581:K1209N	.	K	-	3	2	ATR	143737640	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.017000	0.57167	2.636000	0.89361	0.585000	0.79938	AAG		0.308	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	Missense_Mutation	A	142254950	C	A	142254950	5	1	326	1	0	0	0	0	0	0	1	0	1204	695	24	4	4227	4	ATR	3	142254950	Splice_Site	SNP	C	TCGA-BP-4176-01A-02D-1366-10	20274095	142254950	55767480	29	19097											
LRRC34	151827	hgsc.bcm.edu;ucsc.edu	37	3	169514626	169514626	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr3:169514626T>A	ENST00000316515.7	-	7	956	c.680A>T	c.(679-681)cAc>cTc	p.H227L	RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000446859.1_Missense_Mutation_p.H272L|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000522830.1_Missense_Mutation_p.H211L|LRRC34_ENST00000522526.2_Missense_Mutation_p.H240L|LRRC34_ENST00000524327.1_5'UTR	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	227										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CTTACACATGTGTAGTGCAAC	0.368																																																0													139	121	127					3																	169514626		2203	4300	6503	SO:0001583	missense	151827			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.680A>T	3.37:g.169514626T>A	ENSP00000326150:p.His227Leu		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	ENST00000316515.7	37		.	.	.	.	.	.	.	.	.	.	T	14.98	2.696722	0.48202	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526;ENST00000528597	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.7	5.97	4.82	0.62117	.	0.040228	0.85682	D	0.000000	T	0.70307	0.3209	M	0.90082	3.085	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.958;0.986;0.998;0.999;0.999	P;P;D;D;D	0.83275	0.699;0.741;0.982;0.974;0.996	T	0.72197	-0.4363	10	0.15952	T	0.53	-15.4762	12.104	0.53801	0.0:0.0667:0.0:0.9333	.	259;211;211;272;227	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	L	272;227;211;240;21	ENSP00000414635:H272L;ENSP00000326150:H227L;ENSP00000429593:H211L;ENSP00000429278:H240L;ENSP00000436883:H21L	ENSP00000326150:H227L	H	-	2	0	LRRC34	170997320	1.000000	0.71417	0.068000	0.19968	0.005000	0.04900	4.687000	0.61708	1.103000	0.41568	0.524000	0.50904	CAC		0.368	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353		A	169514626	T	A	169514626	3	1	326	1	0	0	0	0	1	0	0	0	8991	1696	59	5	617	5	LRRC34	3	169514626	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	27259676	169514626	28507804	30	19098											
SLC34A2	10568	hgsc.bcm.edu	37	4	25667856	25667856	+	Silent	SNP	C	C	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr4:25667856C>A	ENST00000382051.3	+	5	536	c.486C>A	c.(484-486)acC>acA	p.T162T	SLC34A2_ENST00000503434.1_Silent_p.T161T|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Silent_p.T161T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	162					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTCCAGCACCTCAACGTCCA	0.562			T	ROS1	NSCLC																																		Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0													128	114	118					4																	25667856		2203	4300	6503	SO:0001819	synonymous_variant	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.486C>A	4.37:g.25667856C>A			A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	CCDS3435.1																																																																																				0.562	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		A	25667856	C	A	25667856	2	1	326	1	0	0	0	0	0	0	0	1	14574	668	24	4		4	SLC34A2	4	25667856	Silent	SNP	C	TCGA-BP-4176-01A-02D-1366-10		25667856	165486420	31	19099											
UGT8	7368	hgsc.bcm.edu;ucsc.edu	37	4	115585285	115585286	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr4:115585285_115585286delGA	ENST00000310836.6	+	3	1479_1480	c.957_958delGA	c.(955-960)gtgattfs	p.I320fs	UGT8_ENST00000394511.3_Frame_Shift_Del_p.I320fs	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	320					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CTCAAAAAGTGATTTGGAGGTA	0.416																																																0																																										SO:0001589	frameshift_variant	7368			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.957_958delGA	4.37:g.115585285_115585286delGA	ENSP00000311648:p.Ile320fs		B3KXU7|O00196	Frame_Shift_Del	DEL	ENST00000310836.6	37	CCDS3705.1																																																																																				0.416	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		-	115585286	GA	-	115585285	7	5	326	1	0	1	0	1	0	0	0	0	16970	1277	45	0	963	0	UGT8	4	115585285	Frame_Shift_Del	DEL	GA	TCGA-BP-4176-01A-02D-1366-10	89917429	115585285	75568991	32	19100											
GPR98	84059	hgsc.bcm.edu;ucsc.edu	37	5	89925092	89925092	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr5:89925092C>G	ENST00000405460.2	+	9	1671	c.1575C>G	c.(1573-1575)aaC>aaG	p.N525K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	525					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTATGGAAAACCAGAAGATTG	0.353																																																0													77	74	75					5																	89925092		1865	4094	5959	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1575C>G	5.37:g.89925092C>G	ENSP00000384582:p.Asn525Lys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.52|13.52	2.261669|2.261669	0.39995|0.39995	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.35048|.	1.33|.	5.68|5.68	0.47|0.47	0.16747|0.16747	.|.	0.307617|.	0.39834|.	N|.	0.001244|.	T|T	0.59348|0.59348	0.2187|0.2187	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	P|.	0.44627|.	0.839|.	B|.	0.39379|.	0.298|.	T|T	0.52578|0.52578	-0.8557|-0.8557	10|5	0.59425|.	D|.	0.04|.	.|.	10.3457|10.3457	0.43906|0.43906	0.0:0.4604:0.0:0.5396|0.0:0.4604:0.0:0.5396	.|.	525|.	Q8WXG9|.	GPR98_HUMAN|.	K|A	525|114	ENSP00000384582:N525K|.	ENSP00000296619:N525K|.	N|P	+|+	3|1	2|0	GPR98|GPR98	89960848|89960848	0.786000|0.786000	0.28738|0.28738	0.992000|0.992000	0.48379|0.48379	0.999000|0.999000	0.98932|0.98932	-0.111000|-0.111000	0.10807|0.10807	-0.219000|-0.219000	0.10003|0.10003	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89925092	C	G	89925092	3	3	326	1	0	0	0	0	1	0	0	0	6723	506	18	4	1609	4	GPR98	5	89925092	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10		89925092	90990168	33	19101											
SH3RF2	153769	hgsc.bcm.edu;ucsc.edu	37	5	145428752	145428752	+	Silent	SNP	C	C	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr5:145428752C>T	ENST00000511217.1	+	6	1318	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	SH3RF2_ENST00000359120.4_Silent_p.S422S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	422	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGCGTCTCCTTGGTCACCG	0.602											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													69	69	69					5																	145428752		2203	4300	6503	SO:0001819	synonymous_variant	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1266C>T	5.37:g.145428752C>T		1694	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	CCDS4280.1																																																																																				0.602	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		T	145428752	C	T	145428752	2	4	326	1	0	0	0	0	0	0	0	1	14265	668	24	2		2	SH3RF2	5	145428752	Silent	SNP	C	TCGA-BP-4176-01A-02D-1366-10	55503660	145428752	35486508	34	19102											
SCAND3	114821	hgsc.bcm.edu	37	6	28543057	28543057	+	Silent	SNP	T	T	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr6:28543057T>C	ENST00000452236.2	-	3	2042	c.1425A>G	c.(1423-1425)caA>caG	p.Q475Q	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TATCCTCAGTTTGTTCTGCAG	0.423																																																0													105	106	105					6																	28543057		2203	4300	6503	SO:0001819	synonymous_variant	114821																														ENST00000452236.2:c.1425A>G	6.37:g.28543057T>C				Silent	SNP	ENST00000452236.2	37	CCDS34355.1																																																																																				0.423	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			C	28543057	T	C	28543057	2	2	326	1	0	0	0	0	0	0	0	1	13882	1838	64	3		3	SCAND3	6	28543057	Silent	SNP	T	TCGA-BP-4176-01A-02D-1366-10		28543057	142572010	35	19103											
OR2J2	26707	hgsc.bcm.edu;ucsc.edu	37	6	29141432	29141433	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr6:29141432_29141433insA	ENST00000377167.2	+	1	122_123	c.20_21insA	c.(19-24)gcaagtfs	p.S8fs		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AAAAAAAATGCAAGTTCGGAAG	0.361																																																0																																										SO:0001589	frameshift_variant	26707				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.22dupA	6.37:g.29141434_29141434dupA	ENSP00000366372:p.Ser8fs		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Frame_Shift_Ins	INS	ENST00000377167.2	37	CCDS43434.1																																																																																				0.361	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			A	29141433	-	A	29141432	7	5	326	1	0	1	1	0	0	0	0	0	11005	710	25	0	22	0	OR2J2	6	29141432	Frame_Shift_Ins	INS	-	TCGA-BP-4176-01A-02D-1366-10	598375	29141432	141973635	36	19104											
BAK1	578	hgsc.bcm.edu	37	6	33545340	33545340	+	Silent	SNP	G	G	A	rs2227925	byFrequency	TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr6:33545340G>A	ENST00000374467.3	-	2	290	c.42C>T	c.(40-42)tgC>tgT	p.C14C	BAK1_ENST00000442998.2_Silent_p.C14C|BAK1_ENST00000360661.5_Silent_p.C14C	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	14					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CAGGCTCTCCGCACTCCTGCC	0.612													g|||	381	0.0760783	0.0091	0.1297	5008	,	,		18711	0.0099		0.2207	False		,,,				2504	0.0481															0								G		142,3722		6,130,1796	42	29	33		42	-8	0	6	dbSNP_98	33	1373,5983		128,1117,2433	no	coding-synonymous	BAK1	NM_001188.3		134,1247,4229	AA,AG,GG		18.665,3.6749,13.5027		14/212	33545340	1515,9705	1932	3678	5610	SO:0001819	synonymous_variant	578			U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.42C>T	6.37:g.33545340G>A			C0H5Y7|Q6I9T6|Q92533	Silent	SNP	ENST00000374467.3	37	CCDS4781.1																																																																																				0.612	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		A	33545340	G	A	33545340	2	1	326	1	0	0	0	0	0	0	0	1	1305	1079	38	1		1	BAK1	6	33545340	Silent	SNP	G	TCGA-BP-4176-01A-02D-1366-10	4403908	33545340	137569727	37	19105											
ITPR3	3710	hgsc.bcm.edu	37	6	33662730	33662730	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr6:33662730G>A	ENST00000374316.5	+	58	8875	c.7815G>A	c.(7813-7815)atG>atA	p.M2605I	ITPR3_ENST00000605930.1_Missense_Mutation_p.M2605I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2605					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCCCCCGGATGCGGGCCATGT	0.547																																																0													66	60	62					6																	33662730		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7815G>A	6.37:g.33662730G>A	ENSP00000363435:p.Met2605Ile		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	36	5.639387	0.96693	.	.	ENSG00000096433	ENST00000374316	T	0.43294	0.95	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	M	0.86573	2.825	0.80722	D	1	D	0.57571	0.98	D	0.63192	0.912	T	0.69928	-0.5012	10	0.72032	D	0.01	-53.1273	19.7706	0.96363	0.0:0.0:1.0:0.0	.	2605	Q14573	ITPR3_HUMAN	I	2605	ENSP00000363435:M2605I	ENSP00000363435:M2605I	M	+	3	0	ITPR3	33770708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.697000	0.92050	0.655000	0.94253	ATG		0.547	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		A	33662730	G	A	33662730	3	1	326	1	0	0	0	0	1	0	0	0	7924	1319	46	2	8041	2	ITPR3	6	33662730	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	117390	33662730	137452337	38	19106											
SNX9	51429	hgsc.bcm.edu;ucsc.edu	37	6	158330994	158330994	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr6:158330994C>T	ENST00000392185.3	+	9	1057	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	296	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.R296C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GTTATATGAGCGTCTCCTGGT	0.413																																																1	Substitution - Missense(1)	endometrium(1)											212	219	217					6																	158330994		2203	4300	6503	SO:0001583	missense	51429			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.886C>T	6.37:g.158330994C>T	ENSP00000376024:p.Arg296Cys		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660724	0.88154	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.42131	0.98	5.56	5.56	0.83823	Phox homologous domain (5);	0.145674	0.64402	D	0.000012	T	0.57446	0.2054	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64651	-0.6357	10	0.87932	D	0	-22.51	19.8818	0.96901	0.0:1.0:0.0:0.0	.	296	Q9Y5X1	SNX9_HUMAN	C	296;296;96	ENSP00000376024:R296C	ENSP00000252631:R96C	R	+	1	0	SNX9	158250982	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	5.738000	0.68613	1.483000	0.48342	-0.150000	0.13652	CGT		0.413	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			T	158330994	C	T	158330994	3	4	326	1	0	0	0	0	1	0	0	0	14915	768	27	1	920	1	SNX9	6	158330994	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	124668264	158330994	12784073	39	19107											
RSPH10B	222967	hgsc.bcm.edu	37	7	5972412	5972412	+	Splice_Site	SNP	C	C	G	rs201048235		TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr7:5972412C>G	ENST00000405415.1	-	18	2620		c.e18+1		RSPH10B_ENST00000535104.1_Intron|RSPH10B_ENST00000404406.1_Splice_Site|RSPH10B_ENST00000441023.2_Splice_Site|RSPH10B_ENST00000337579.3_Splice_Site|RSPH10B_ENST00000539903.1_Splice_Site			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)											breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		AAAATACTCACTGCTCTCAGA	0.294																																																0													2	1	2					7																	5972412		916	1839	2755	SO:0001630	splice_region_variant	222967				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.2233+1G>C	7.37:g.5972412C>G			A6NMW7|Q86ST9|Q8NE68	Splice_Site	SNP	ENST00000405415.1	37	CCDS34598.1	13	0.005952380952380952	8	0.016260162601626018	0	0.0	0	0.0	5	0.006596306068601583	c	10.25	1.298232	0.23650	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000354951;ENST00000441023	.	.	.	3.28	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3698	0.44046	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RSPH10B	5938938	0.991000	0.36638	0.568000	0.28447	0.016000	0.09150	2.823000	0.48081	1.880000	0.54463	0.579000	0.79373	.		0.294	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565	Intron	G	5972412	C	G	5972412	5	3	326	1	0	0	0	0	0	0	1	0	13709	579	20	4	390	4	RSPH10B	7	5972412	Splice_Site	SNP	C	TCGA-BP-4176-01A-02D-1366-10		5972412	153166251	40	19108											
C7orf41	222166	hgsc.bcm.edu	37	7	30174891	30174891	+	Missense_Mutation	SNP	G	G	T	rs374284471		TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr7:30174891G>T	ENST00000324453.8	+	1	466	c.139G>T	c.(139-141)Gac>Tac	p.D47Y	C7orf41_ENST00000409688.1_Missense_Mutation_p.D47Y|C7orf41_ENST00000415604.1_Missense_Mutation_p.D47Y	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		47					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						GCTGTGTCCGGACAACGGCTG	0.672																																																0								G	TYR/ASP	0,4290		0,0,2145	22	28	26		139	3.7	1	7		26	1,8515		0,1,4257	no	missense	C7orf41	NM_152793.2	160	0,1,6402	TT,TG,GG		0.0117,0.0,0.0078	possibly-damaging	47/132	30174891	1,12805	2145	4258	6403	SO:0001583	missense	222166																														ENST00000324453.8:c.139G>T	7.37:g.30174891G>T	ENSP00000324204:p.Asp47Tyr		B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	37	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243577	0.58995	0.0	1.17E-4	ENSG00000180354	ENST00000324453;ENST00000409688;ENST00000415604	.	.	.	3.65	3.65	0.41850	.	0.210409	0.31542	U	0.007472	T	0.36110	0.0955	N	0.19112	0.55	0.80722	D	1	P	0.43412	0.806	B	0.37387	0.248	T	0.43065	-0.9414	9	0.87932	D	0	-15.0715	12.7909	0.57533	0.0:0.0:1.0:0.0	.	47	Q8N3F0	CG041_HUMAN	Y	47	.	ENSP00000324204:D47Y	D	+	1	0	C7orf41	30141416	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	5.487000	0.66863	1.562000	0.49601	0.289000	0.19496	GAC		0.672	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1			T	30174891	G	T	30174891	3	4	326	1	0	0	0	0	1	0	0	0	2393	1174	41	4	141	4	C7orf41	7	30174891	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	24202479	30174891	128963772	41	19109											
AUTS2	26053	hgsc.bcm.edu;ucsc.edu	37	7	69364395	69364395	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr7:69364395C>G	ENST00000342771.4	+	2	754	c.433C>G	c.(433-435)Cca>Gca	p.P145A	AUTS2_ENST00000403018.2_Missense_Mutation_p.P145A|AUTS2_ENST00000406775.2_Missense_Mutation_p.P145A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	145										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACTCAGCCACCCACACCACTA	0.512																																																0													129	122	124					7																	69364395		2203	4300	6503	SO:0001583	missense	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.433C>G	7.37:g.69364395C>G	ENSP00000344087:p.Pro145Ala		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291233	0.40494	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.32515	1.46;1.45	5.65	2.89	0.33648	.	0.578426	0.15814	N	0.243333	T	0.20941	0.0504	L	0.34521	1.04	0.20074	N	0.999935	B;B;B	0.29988	0.004;0.004;0.264	B;B;B	0.31101	0.013;0.013;0.124	T	0.18272	-1.0342	9	.	.	.	-0.0606	6.9887	0.24743	0.0:0.7229:0.0:0.2771	.	145;145;145	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	A	145	ENSP00000385263:P145A;ENSP00000344087:P145A	.	P	+	1	0	AUTS2	69002331	0.820000	0.29190	0.934000	0.37439	0.998000	0.95712	0.698000	0.25571	0.478000	0.27488	0.655000	0.94253	CCA		0.512	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			G	69364395	C	G	69364395	3	3	326	1	0	0	0	0	1	0	0	0	1225	623	22	4	439	4	AUTS2	7	69364395	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	39189504	69364395	89774268	42	19110											
TAS2R3	50831	hgsc.bcm.edu	37	7	141464682	141464682	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr7:141464682C>A	ENST00000247879.2	+	1	786	c.724C>A	c.(724-726)Ctc>Atc	p.L242I	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	242					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					cttcttctttctcttcttact	0.428																																																0													87	78	81					7																	141464682		2203	4300	6503	SO:0001583	missense	50831			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.724C>A	7.37:g.141464682C>A	ENSP00000247879:p.Leu242Ile		A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822878	0.50739	.	.	ENSG00000127362	ENST00000247879	T	0.38887	1.11	5.71	4.82	0.62117	.	0.255414	0.31484	N	0.007563	T	0.66982	0.2845	M	0.90870	3.155	0.24539	N	0.994072	D	0.63046	0.992	P	0.61201	0.885	T	0.65792	-0.6082	10	0.72032	D	0.01	.	11.5573	0.50755	0.0:0.9121:0.0:0.0879	.	242	Q9NYW6	TA2R3_HUMAN	I	242	ENSP00000247879:L242I	ENSP00000247879:L242I	L	+	1	0	TAS2R3	141111151	0.000000	0.05858	0.794000	0.32065	0.124000	0.20399	-0.547000	0.06055	1.394000	0.46624	0.557000	0.71058	CTC		0.428	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			A	141464682	C	A	141464682	3	1	326	1	0	0	0	0	1	0	0	0	15577	913	32	4	726	4	TAS2R3	7	141464682	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	72100287	141464682	17673981	43	19111											
ERLIN2	11160	hgsc.bcm.edu;ucsc.edu	37	8	37611039	37611039	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr8:37611039G>A	ENST00000276461.5	+	11	878	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	ERLIN2_ENST00000519638.1_Missense_Mutation_p.A271T	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	271	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AATAGCCGAAGCCAATAAGGT	0.532																																																0													57	53	54					8																	37611039		2203	4300	6503	SO:0001583	missense	11160			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"chromosome 8 open reading frame 2", "SPFH domain family, member 2"	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.811G>A	8.37:g.37611039G>A	ENSP00000276461:p.Ala271Thr		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381337	0.82792	.	.	ENSG00000147475	ENST00000276461;ENST00000521644;ENST00000519638	T;T;T	0.74106	-0.81;-0.81;-0.81	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	M	0.67625	2.065	0.80722	D	1	P	0.48834	0.916	B	0.39935	0.314	T	0.76979	-0.2758	10	0.46703	T	0.11	-17.69	20.1169	0.97940	0.0:0.0:1.0:0.0	.	271	O94905	ERLN2_HUMAN	T	271	ENSP00000276461:A271T;ENSP00000429621:A271T;ENSP00000428112:A271T	ENSP00000276461:A271T	A	+	1	0	ERLIN2	37730197	1.000000	0.71417	0.995000	0.50966	0.441000	0.31987	5.430000	0.66501	2.835000	0.97688	0.591000	0.81541	GCC		0.532	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		A	37611039	G	A	37611039	3	1	326	1	0	0	0	0	1	0	0	0	5235	971	34	2	888	2	ERLIN2	8	37611039	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10		37611039	108752983	44	19112											
PTK2	5747	hgsc.bcm.edu	37	8	141745400	141745400	+	Silent	SNP	G	G	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr8:141745400G>T	ENST00000522684.1	-	22	2209	c.1980C>A	c.(1978-1980)gcC>gcA	p.A660A	PTK2_ENST00000340930.3_Silent_p.A660A|PTK2_ENST00000395218.2_Silent_p.A660A|PTK2_ENST00000521059.1_Silent_p.A660A|PTK2_ENST00000535192.1_Silent_p.A660A|PTK2_ENST00000517887.1_Silent_p.A704A|PTK2_ENST00000538769.1_Silent_p.A328A|MIR151A_ENST00000521276.1_RNA|PTK2_ENST00000519465.1_Silent_p.A288A|PTK2_ENST00000519419.1_Silent_p.A704A	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	660	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGGGTCATAGGCCCAGCATT	0.522																																																0													90	73	79					8																	141745400		2203	4300	6503	SO:0001819	synonymous_variant	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1980C>A	8.37:g.141745400G>T			B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346026	0.24426	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.51	-0.133	0.13485	.	.	.	.	.	T	0.50718	0.1632	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37596	-0.9699	4	.	.	.	.	5.4239	0.16415	0.2058:0.0825:0.5834:0.1283	.	.	.	.	I	671	.	.	L	-	1	2	PTK2	141814582	0.895000	0.30542	0.997000	0.53966	0.987000	0.75469	-0.241000	0.08940	0.040000	0.15660	-0.150000	0.13652	CTA		0.522	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		T	141745400	G	T	141745400	2	4	326	1	0	0	0	0	0	0	0	1	12768	987	35	4		4	PTK2	8	141745400	Silent	SNP	G	TCGA-BP-4176-01A-02D-1366-10	104134361	141745400	4618622	45	19113											
PUF60	22827	hgsc.bcm.edu	37	8	144899131	144899131	+	Silent	SNP	C	C	A	rs368018307		TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr8:144899131C>A	ENST00000526683.1	-	11	1884	c.1329G>T	c.(1327-1329)tcG>tcT	p.S443S	PUF60_ENST00000349157.6_Silent_p.S426S|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000524570.1_5'Flank|PUF60_ENST00000527197.1_Silent_p.S397S|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000456095.2_Silent_p.S414S|PUF60_ENST00000453551.2_Silent_p.S400S|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000313352.7_Silent_p.S383S	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	443	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGCTACTGCCCGAGATGCTCA	0.642																																																0													33	31	31					8																	144899131		2142	4247	6389	SO:0001819	synonymous_variant	22827			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1329G>T	8.37:g.144899131C>A			A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Silent	SNP	ENST00000526683.1	37	CCDS47934.1																																																																																				0.642	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		A	144899131	C	A	144899131	2	1	326	1	0	0	0	0	0	0	0	1	12830	639	23	4		4	PUF60	8	144899131	Silent	SNP	C	TCGA-BP-4176-01A-02D-1366-10	3153731	144899131	1464891	46	19114											
FAM166B	730112	hgsc.bcm.edu;ucsc.edu	37	9	35563020	35563020	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr9:35563020T>A	ENST00000399742.2	-	3	414	c.344A>T	c.(343-345)gAg>gTg	p.E115V	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	115										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						ACTCAGAGCCTCGGCCCAGAC	0.532																																																0													54	52	53					9																	35563020		1960	4137	6097	SO:0001583	missense	730112			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.344A>T	9.37:g.35563020T>A	ENSP00000382646:p.Glu115Val		A1L3B2|B7ZBJ0	Missense_Mutation	SNP	ENST00000399742.2	37	CCDS56572.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949786	0.73787	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.67	5.67	0.87782	.	0.324869	0.18704	U	0.133488	T	0.77785	0.4182	M	0.75447	2.3	0.40512	D	0.980746	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.997;0.997;0.942;0.998	T	0.78778	-0.2071	9	0.49607	T	0.09	-21.379	12.2915	0.54820	0.0:0.0:0.0:1.0	.	115;115;115;115	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	V	115	.	ENSP00000382646:E115V	E	-	2	0	FAM166B	35553020	0.997000	0.39634	0.996000	0.52242	0.787000	0.44495	2.679000	0.46909	2.151000	0.67156	0.460000	0.39030	GAG		0.532	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		A	35563020	T	A	35563020	3	1	326	1	0	0	0	0	1	0	0	0	5484	1551	54	5	318	5	FAM166B	9	35563020	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10		35563020	105650411	47	19115											
FRMPD1	22844	hgsc.bcm.edu;ucsc.edu	37	9	37731077	37731077	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr9:37731077G>T	ENST00000539465.1	+	9	1428	c.835G>T	c.(835-837)Gcc>Tcc	p.A279S	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A148S|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A279S|FRMPD1_ENST00000536622.1_Missense_Mutation_p.A101S			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	279	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGACCCCGTGGCCTTTGAATA	0.512																																																0													89	91	90					9																	37731077		2203	4300	6503	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.835G>T	9.37:g.37731077G>T	ENSP00000444411:p.Ala279Ser		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910586	0.72983	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.64	5.64	0.86602	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.180487	0.49305	D	0.000151	T	0.52964	0.1767	L	0.54323	1.7	0.58432	D	0.99999	P;P	0.52463	0.834;0.953	P;P	0.53313	0.583;0.723	T	0.49062	-0.8978	10	0.45353	T	0.12	-17.733	17.1917	0.86881	0.0:0.0:1.0:0.0	.	148;279	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	S	279;279;101;148	ENSP00000366995:A279S;ENSP00000444411:A279S;ENSP00000437762:A101S;ENSP00000444804:A148S	ENSP00000366995:A279S	A	+	1	0	FRMPD1	37721077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.672000	0.54583	2.666000	0.90696	0.655000	0.94253	GCC		0.512	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		T	37731077	G	T	37731077	3	4	326	1	0	0	0	0	1	0	0	0	6059	1203	42	4	865	4	FRMPD1	9	37731077	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	2168057	37731077	103482354	48	19116											
FNBP1	23048	hgsc.bcm.edu;ucsc.edu	37	9	132741632	132741632	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr9:132741632T>A	ENST00000446176.2	-	3	348	c.162A>T	c.(160-162)caA>caT	p.Q54H	FNBP1_ENST00000420781.1_Missense_Mutation_p.Q54H|FNBP1_ENST00000355681.3_Missense_Mutation_p.Q54H	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	54	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TCTTTTTAGGTTGGTACTTCT	0.333			T	MLL	AML																																		Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													172	164	167					9																	132741632		1815	4082	5897	SO:0001583	missense	23048			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.162A>T	9.37:g.132741632T>A	ENSP00000413625:p.Gln54His		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.64|14.64	2.596801|2.596801	0.46318|0.46318	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	.|T;T;T	.|0.17691	.|2.26;2.26;2.26	5.47|5.47	3.11|3.11	0.35812|0.35812	.|Fps/Fes/Fer/CIP4 homology (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22282|0.22282	0.0537|0.0537	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.29646	.|0.117;0.253;0.128;0.043;0.229	.|B;B;B;B;B	.|0.39531	.|0.139;0.302;0.124;0.187;0.196	T|T	0.02743|0.02743	-1.1116|-1.1116	5|10	.|0.59425	.|D	.|0.04	-28.1451|-28.1451	9.1832|9.1832	0.37154|0.37154	0.0:0.1484:0.0:0.8516|0.0:0.1484:0.0:0.8516	.|.	.|54;54;54;54;54	.|B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q96RU3	.|.;.;.;.;FNBP1_HUMAN	I|H	16|54	.|ENSP00000413625:Q54H;ENSP00000407548:Q54H;ENSP00000347907:Q54H	.|ENSP00000347907:Q54H	N|Q	-|-	2|3	0|2	FNBP1|FNBP1	131781453|131781453	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	0.377000|0.377000	0.20552|0.20552	0.378000|0.378000	0.24764|0.24764	0.454000|0.454000	0.30748|0.30748	AAC|CAA		0.333	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			A	132741632	T	A	132741632	3	1	326	1	0	0	0	0	1	0	0	0	5967	1722	60	5	1751	5	FNBP1	9	132741632	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	95010555	132741632	8471799	49	19117											
ACBD5	91452	hgsc.bcm.edu	37	10	27497270	27497270	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr10:27497270T>A	ENST00000375888.1	-	10	1400	c.1336A>T	c.(1336-1338)Aat>Tat	p.N446Y	ACBD5_ENST00000375905.4_Missense_Mutation_p.N402Y|ACBD5_ENST00000375901.1_Missense_Mutation_p.N328Y|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000396271.3_Missense_Mutation_p.N437Y|ACBD5_ENST00000375897.3_Missense_Mutation_p.N260Y			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	446					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATCTGCTCATTGAGGCTGCCT	0.577																																																0													111	102	105					10																	27497270		2203	4300	6503	SO:0001583	missense	91452			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1336A>T	10.37:g.27497270T>A	ENSP00000365049:p.Asn446Tyr		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37		.	.	.	.	.	.	.	.	.	.	T	26.7	4.765557	0.90020	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	T;T;T;T;T	0.35789	2.3;2.04;1.29;1.32;2.3	5.63	5.63	0.86233	.	0.040310	0.85682	D	0.000000	T	0.62612	0.2442	M	0.81942	2.565	0.52501	D	0.999959	D;D;D;D	0.76494	0.997;0.998;0.999;0.999	D;D;D;D	0.71870	0.957;0.975;0.94;0.94	T	0.67673	-0.5610	10	0.72032	D	0.01	-17.4258	16.1324	0.81449	0.0:0.0:0.0:1.0	.	437;260;435;446	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	Y	443;437;402;328;260;446	ENSP00000379568:N437Y;ENSP00000365070:N402Y;ENSP00000365066:N328Y;ENSP00000365062:N260Y;ENSP00000365049:N446Y	ENSP00000365049:N446Y	N	-	1	0	ACBD5	27537276	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	7.330000	0.79181	2.261000	0.74972	0.477000	0.44152	AAT		0.577	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		A	27497270	T	A	27497270	3	1	326	1	0	0	0	0	1	0	0	0	125	1812	63	5	284	5	ACBD5	10	27497270	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10		27497270	108037477	50	19118											
POLR3A	11128	hgsc.bcm.edu;ucsc.edu	37	10	79761970	79761970	+	Missense_Mutation	SNP	G	G	T	rs137961403		TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr10:79761970G>T	ENST00000372371.3	-	17	2481	c.2344C>A	c.(2344-2346)Ctg>Atg	p.L782M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	782					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GAGCCGCACAGAGCCATGGTG	0.587																																																0													74	60	64					10																	79761970		2203	4297	6500	SO:0001583	missense	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2344C>A	10.37:g.79761970G>T	ENSP00000361446:p.Leu782Met		Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600641	0.66332	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.77489	-1.1	5.49	2.44	0.29823	RNA polymerase Rpb1, domain 4 (1);	0.067303	0.64402	D	0.000009	D	0.83603	0.5290	M	0.73753	2.245	0.58432	D	0.999998	D	0.60575	0.988	D	0.63703	0.917	T	0.82016	-0.0666	9	.	.	.	-17.2577	8.4632	0.32940	0.1401:0.1275:0.7324:0.0	.	782	O14802	RPC1_HUMAN	M	782	ENSP00000361446:L782M	.	L	-	1	2	POLR3A	79431976	1.000000	0.71417	0.859000	0.33776	0.986000	0.74619	6.027000	0.70881	0.797000	0.33971	0.655000	0.94253	CTG		0.587	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		T	79761970	G	T	79761970	3	4	326	1	0	0	0	0	1	0	0	0	12230	933	33	4	1888	4	POLR3A	10	79761970	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	52264700	79761970	55772777	51	19119											
RASSF7	8045	hgsc.bcm.edu	37	11	563219	563219	+	Nonsense_Mutation	SNP	C	C	T	rs139977222		TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr11:563219C>T	ENST00000397583.3	+	4	1286	c.853C>T	c.(853-855)Cga>Tga	p.R285*	RASSF7_ENST00000454668.2_Nonsense_Mutation_p.R285*|RASSF7_ENST00000431809.1_Nonsense_Mutation_p.R285*|RASSF7_ENST00000397582.3_Nonsense_Mutation_p.R285*|RASSF7_ENST00000344375.4_Nonsense_Mutation_p.R285*|MIR210HG_ENST00000500447.1_lincRNA|C11orf35_ENST00000329451.3_5'Flank	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	285					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R285*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGCTGAACCGAGAGCTCCG	0.662																																					Pancreas(184;1170 3913 7268)											1	Substitution - Nonsense(1)	skin(1)											34	37	36					11																	563219		2203	4298	6501	SO:0001587	stop_gained	8045			M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.853C>T	11.37:g.563219C>T	ENSP00000380713:p.Arg285*		G5E9N9|Q3KP41|Q3KP42	Nonsense_Mutation	SNP	ENST00000397583.3	37	CCDS7702.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595891	0.86953	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	.	.	.	3.24	0.896	0.19253	.	0.063749	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	4.3404	9.5426	0.39262	0.7015:0.2984:0.0:0.0	.	.	.	.	X	285	.	ENSP00000344226:R285X	R	+	1	2	RASSF7	553219	1.000000	0.71417	0.996000	0.52242	0.469000	0.32828	2.164000	0.42387	0.515000	0.28320	0.462000	0.41574	CGA		0.662	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		T	563219	C	T	563219	4	4	326	1	0	0	0	0	0	1	0	0	13097	644	23	1	863	1	RASSF7	11	563219	Nonsense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10		563219	134443297	52	19120											
ASCL3	56676	hgsc.bcm.edu	37	11	8959460	8959460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr11:8959460G>T	ENST00000531618.1	-	1	298	c.249C>A	c.(247-249)taC>taA	p.Y83*	ASCL3_ENST00000325884.1_Nonsense_Mutation_p.Y83*			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	82					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		CGCACCCTCTGTAATTTGGAT	0.557																																																0													61	63	63					11																	8959460		2201	4295	6496	SO:0001587	stop_gained	56676			AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"Basic helix-loop-helix proteins"	740	protein-coding gene	gene with protein product		609154	"achaete-scute complex (Drosophila) homolog-like 3", "achaete-scute complex homolog 3 (Drosophila)"			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.249C>A	11.37:g.8959460G>T	ENSP00000435770:p.Tyr83*		Q8WYQ6	Nonsense_Mutation	SNP	ENST00000531618.1	37	CCDS7795.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474329	0.43942	.	.	ENSG00000176009	ENST00000325884;ENST00000531618	.	.	.	5.72	4.8	0.61643	.	0.207594	0.34435	N	0.003970	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8037	10.6853	0.45839	0.1442:0.0:0.8558:0.0	.	.	.	.	X	83	.	ENSP00000318846:Y83X	Y	-	3	2	ASCL3	8916036	0.993000	0.37304	1.000000	0.80357	0.134000	0.20937	1.269000	0.33074	2.717000	0.92951	0.650000	0.86243	TAC		0.557	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1			T	8959460	G	T	8959460	4	4	326	1	0	0	0	0	0	1	0	0	1035	1372	48	4	300	4	ASCL3	11	8959460	Nonsense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	8396241	8959460	126047056	53	19121											
CCS	9973	hgsc.bcm.edu	37	11	66373234	66373234	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr11:66373234T>G	ENST00000533244.1	+	8	1174	c.733T>G	c.(733-735)Tct>Gct	p.S245A	CCS_ENST00000310190.4_Missense_Mutation_p.S226A	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	245					copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCAGATCTGCTCTTGCGATGG	0.622																																																0													81	76	77					11																	66373234		2200	4295	6495	SO:0001583	missense	9973			AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.733T>G	11.37:g.66373234T>G	ENSP00000436318:p.Ser245Ala		Q2M366|Q8NEV0	Missense_Mutation	SNP	ENST00000533244.1	37	CCDS8146.1	.	.	.	.	.	.	.	.	.	.	t	7.319	0.616494	0.14129	.	.	ENSG00000173992	ENST00000533244;ENST00000310190;ENST00000534763	T;T;T	0.40476	1.03;1.03;1.03	5.73	-4.29	0.03721	Superoxide dismutase, copper/zinc binding domain (1);	0.378363	0.29838	N	0.011061	T	0.11836	0.0288	N	0.02266	-0.62	0.31492	N	0.66589	B	0.02656	0.0	B	0.09377	0.004	T	0.40701	-0.9549	10	0.05959	T	0.93	.	9.5474	0.39288	0.6756:0.0:0.1073:0.2171	.	245	O14618	CCS_HUMAN	A	245;226;63	ENSP00000436318:S245A;ENSP00000307870:S226A;ENSP00000436379:S63A	ENSP00000307870:S226A	S	+	1	0	CCS	66129810	0.981000	0.34729	0.986000	0.45419	0.976000	0.68499	0.159000	0.16442	-0.592000	0.05851	-0.507000	0.04495	TCT		0.622	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		G	66373234	T	G	66373234	3	3	326	1	0	0	0	0	1	0	0	0	2954	1551	54	5	763	5	CCS	11	66373234	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	57413774	66373234	68633282	54	19122											
C2CD3	26005	hgsc.bcm.edu;ucsc.edu	37	11	73814557	73814557	+	Silent	SNP	T	T	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr11:73814557T>A	ENST00000334126.7	-	14	2425	c.2199A>T	c.(2197-2199)ctA>ctT	p.L733L	C2CD3_ENST00000313663.7_Silent_p.L733L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	733					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TAAGTTCTGGTAGTGCCTTAT	0.383																																																0													193	196	195					11																	73814557		2200	4293	6493	SO:0001819	synonymous_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2199A>T	11.37:g.73814557T>A			C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37																																																																																					0.383	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		A	73814557	T	A	73814557	2	1	326	1	0	0	0	0	0	0	0	1	2156	1625	57	5		5	C2CD3	11	73814557	Silent	SNP	T	TCGA-BP-4176-01A-02D-1366-10	7441323	73814557	61191959	55	19123											
MED17	9440	hgsc.bcm.edu	37	11	93526948	93526948	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr11:93526948A>C	ENST00000251871.3	+	4	979	c.692A>C	c.(691-693)gAt>gCt	p.D231A		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	231					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACAGATCTCGATCTGGATAAA	0.303																																																0													72	74	73					11																	93526948		2201	4296	6497	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.692A>C	11.37:g.93526948A>C	ENSP00000251871:p.Asp231Ala		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.906367	0.72868	.	.	ENSG00000042429	ENST00000251871;ENST00000427225;ENST00000528786	T;T	0.55234	0.53;0.53	5.47	5.47	0.80525	.	0.044267	0.85682	D	0.000000	T	0.66346	0.2780	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	D	0.65684	0.937	T	0.62229	-0.6898	10	0.16896	T	0.51	-24.2179	15.554	0.76177	1.0:0.0:0.0:0.0	.	231	Q9NVC6	MED17_HUMAN	A	231;201;123	ENSP00000251871:D231A;ENSP00000433626:D123A	ENSP00000251871:D231A	D	+	2	0	MED17	93166596	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.221000	0.95188	2.095000	0.63458	0.533000	0.62120	GAT		0.303	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		C	93526948	A	C	93526948	3	2	326	1	0	0	0	0	1	0	0	0	9437	333	12	5	706	5	MED17	11	93526948	Missense_Mutation	SNP	A	TCGA-BP-4176-01A-02D-1366-10	19712391	93526948	41479568	56	19124											
EXPH5	23086	hgsc.bcm.edu;ucsc.edu	37	11	108384025	108384025	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr11:108384025T>G	ENST00000265843.4	-	6	2319	c.2209A>C	c.(2209-2211)Aac>Cac	p.N737H	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.N549H|EXPH5_ENST00000428840.1_Missense_Mutation_p.N661H|EXPH5_ENST00000525344.1_Missense_Mutation_p.N730H	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	737					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGTAAAGAGTTTGAGATCCCT	0.403																																																0													84	91	89					11																	108384025		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2209A>C	11.37:g.108384025T>G	ENSP00000265843:p.Asn737His		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827057	0.32329	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04551	4.2;4.12;3.97;4.2;4.04;3.6	5.93	-2.63	0.06133	.	0.925488	0.09267	N	0.825714	T	0.09818	0.0241	M	0.62723	1.935	0.09310	N	1	D	0.59767	0.986	P	0.54100	0.742	T	0.18840	-1.0324	10	0.54805	T	0.06	-0.5037	5.8773	0.18836	0.0:0.3554:0.2592:0.3854	.	737	Q8NEV8	EXPH5_HUMAN	H	737;661;549;730;661;549	ENSP00000265843:N737H;ENSP00000391966:N661H;ENSP00000411390:N549H;ENSP00000432546:N730H;ENSP00000432683:N661H;ENSP00000446434:N549H	ENSP00000265843:N737H	N	-	1	0	EXPH5	107889235	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.011000	0.12721	-0.370000	0.08016	-0.460000	0.05396	AAC		0.403	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		G	108384025	T	G	108384025	3	3	326	1	0	0	0	0	1	0	0	0	5324	1841	64	5	3764	5	EXPH5	11	108384025	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	14857077	108384025	26622491	57	19125											
ROBO3	64221	hgsc.bcm.edu	37	11	124741007	124741007	+	Silent	SNP	C	C	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr11:124741007C>A	ENST00000397801.1	+	7	1323	c.1131C>A	c.(1129-1131)gcC>gcA	p.A377A	ROBO3_ENST00000538940.1_Silent_p.A355A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	377	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCCACCTGCCATCTTCTGGC	0.622																																																0													26	30	29					11																	124741007		1949	4134	6083	SO:0001819	synonymous_variant	64221			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1131C>A	11.37:g.124741007C>A				Silent	SNP	ENST00000397801.1	37	CCDS44755.1																																																																																				0.622	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		A	124741007	C	A	124741007	2	1	326	1	0	0	0	0	0	0	0	1	13521	581	21	4		4	ROBO3	11	124741007	Silent	SNP	C	TCGA-BP-4176-01A-02D-1366-10	16356982	124741007	10265509	58	19126											
TAPBPL	55080	hgsc.bcm.edu;ucsc.edu	37	12	6567862	6567862	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr12:6567862T>A	ENST00000266556.7	+	5	1121	c.956T>A	c.(955-957)cTc>cAc	p.L319H	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	319	Ig-like C1-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CTGCCCACCCTCATCTGCGAC	0.542																																																0													147	131	136					12																	6567862		2203	4300	6503	SO:0001583	missense	55080			AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.956T>A	12.37:g.6567862T>A	ENSP00000266556:p.Leu319His		Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.105698	0.77096	.	.	ENSG00000139192	ENST00000266556	T	0.32988	1.43	5.05	5.05	0.67936	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	H	0.97131	3.945	0.46167	D	0.998904	D	0.89917	1.0	D	0.97110	1.0	T	0.77661	-0.2504	10	0.87932	D	0	-19.7061	11.5033	0.50450	0.0:0.0:0.0:1.0	.	319	Q9BX59	TPSNR_HUMAN	H	319	ENSP00000266556:L319H	ENSP00000266556:L319H	L	+	2	0	TAPBPL	6438123	1.000000	0.71417	0.355000	0.25773	0.083000	0.17756	5.233000	0.65337	2.039000	0.60335	0.528000	0.53228	CTC		0.542	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		A	6567862	T	A	6567862	3	1	326	1	0	0	0	0	1	0	0	0	15558	1551	54	5	974	5	TAPBPL	12	6567862	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10		6567862	127284033	59	19127											
COL2A1	1280	hgsc.bcm.edu;ucsc.edu	37	12	48379700	48379700	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr12:48379700G>A	ENST00000380518.3	-	24	1740	c.1576C>T	c.(1576-1578)Ccc>Tcc	p.P526S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P457S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	526	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCACCTTGGGACCTGCCAGA	0.627																																																0													44	45	45					12																	48379700		2126	4180	6306	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1576C>T	12.37:g.48379700G>A	ENSP00000369889:p.Pro526Ser		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389238	0.61956	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.96587	-3.2;-4.06	4.95	4.95	0.65309	.	0.213564	0.38837	N	0.001560	D	0.97056	0.9038	L	0.61218	1.895	0.47949	D	0.999554	B;B	0.29552	0.158;0.248	P;P	0.48114	0.567;0.458	D	0.96102	0.9070	10	0.41790	T	0.15	.	17.1221	0.86705	0.0:0.0:1.0:0.0	.	457;526	P02458-1;P02458	.;CO2A1_HUMAN	S	526;457;457	ENSP00000369889:P526S;ENSP00000338213:P457S	ENSP00000338213:P457S	P	-	1	0	COL2A1	46665967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.831000	0.48144	2.572000	0.86782	0.609000	0.83330	CCC		0.627	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		A	48379700	G	A	48379700	3	1	326	1	0	0	0	0	1	0	0	0	3689	1174	41	2	3011	2	COL2A1	12	48379700	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	41811838	48379700	85472195	60	19128											
SPATS2	65244	hgsc.bcm.edu;ucsc.edu	37	12	49854814	49854814	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr12:49854814C>A	ENST00000553127.1	+	4	532	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	SPATS2_ENST00000547865.1_Missense_Mutation_p.Q7K|SPATS2_ENST00000552918.1_Missense_Mutation_p.Q7K|SPATS2_ENST00000321898.6_Missense_Mutation_p.Q7K			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	7						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						GAAACAGAACCAGAAGGGTAA	0.338																																																0													103	102	102					12																	49854814		2203	4300	6503	SO:0001583	missense	65244			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.19C>A	12.37:g.49854814C>A	ENSP00000448228:p.Gln7Lys		A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887486	0.33348	.	.	ENSG00000123352	ENST00000550997;ENST00000549538;ENST00000548654;ENST00000550643;ENST00000548710;ENST00000548377;ENST00000549298;ENST00000553127;ENST00000321898;ENST00000551540;ENST00000552918;ENST00000548777;ENST00000547865;ENST00000552171	.	.	.	5.85	4.96	0.65561	.	0.325278	0.28241	N	0.016078	T	0.26085	0.0636	N	0.14661	0.345	0.21933	N	0.999465	B	0.16603	0.018	B	0.16722	0.016	T	0.14587	-1.0467	9	0.30854	T	0.27	7.7068	11.0601	0.47942	0.0:0.9147:0.0:0.0853	.	7	Q86XZ4	SPAS2_HUMAN	K	7	.	ENSP00000326841:Q7K	Q	+	1	0	SPATS2	48141081	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	1.988000	0.40697	1.478000	0.48253	0.563000	0.77884	CAG		0.338	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		A	49854814	C	A	49854814	3	1	326	1	0	0	0	0	1	0	0	0	15024	595	21	4	21	4	SPATS2	12	49854814	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	1475114	49854814	83997081	61	19129											
DCTN2	10540	hgsc.bcm.edu;ucsc.edu	37	12	57926027	57926027	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr12:57926027T>G	ENST00000548249.1	-	12	1263	c.996A>C	c.(994-996)agA>agC	p.R332S	DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000543672.1_Missense_Mutation_p.R337S|DCTN2_ENST00000537439.1_Missense_Mutation_p.R309S|DCTN2_ENST00000434715.3_Missense_Mutation_p.R337S	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	332					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TGGTGACAAGTCTCTGCACCA	0.562																																																0													27	27	27					12																	57926027		1940	4119	6059	SO:0001583	missense	10540			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.996A>C	12.37:g.57926027T>G	ENSP00000447824:p.Arg332Ser		B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987754	0.74589	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758	.	.	.	5.1	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.73642	-0.3918	9	0.87932	D	0	-17.5931	4.365	0.11220	0.0:0.1725:0.171:0.6564	.	308;337;332	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	S	332;337;337;309;308;245;199	.	ENSP00000346785:R308S	R	-	3	2	DCTN2	56212294	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.377000	0.20552	1.075000	0.40932	0.533000	0.62120	AGA		0.562	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		G	57926027	T	G	57926027	3	3	326	1	0	0	0	0	1	0	0	0	4309	1664	58	5	221	5	DCTN2	12	57926027	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	8071213	57926027	75925868	62	19130											
BCL7A	605	hgsc.bcm.edu;ucsc.edu	37	12	122473306	122473306	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr12:122473306T>G	ENST00000261822.4	+	3	450	c.244T>G	c.(244-246)Tcc>Gcc	p.S82A	BCL7A_ENST00000538010.1_Missense_Mutation_p.S82A	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	82					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGAGAACAGTTCCTCCCCAGG	0.547			T	MYC	BNHL																																GBM(17;197 467 16477 23242 44349)		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	0													90	76	81					12																	122473306		2203	4300	6503	SO:0001583	missense	605			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.244T>G	12.37:g.122473306T>G	ENSP00000261822:p.Ser82Ala		B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	ENST00000261822.4	37	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.332448	0.81801	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.48522	0.81;0.82	6.17	5.01	0.66863	.	0.054127	0.85682	N	0.000000	T	0.37865	0.1019	L	0.32530	0.975	0.58432	D	0.999999	B;B	0.19583	0.022;0.037	B;B	0.19148	0.011;0.024	T	0.11470	-1.0586	10	0.41790	T	0.15	.	12.7371	0.57232	0.0:0.0:0.1374:0.8626	.	82;82	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	A	82	ENSP00000445868:S82A;ENSP00000261822:S82A	ENSP00000261822:S82A	S	+	1	0	BCL7A	120957689	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.525000	0.67110	1.116000	0.41820	0.533000	0.62120	TCC		0.547	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			G	122473306	T	G	122473306	3	3	326	1	0	0	0	0	1	0	0	0	1378	1783	62	5	254	5	BCL7A	12	122473306	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	64547279	122473306	11378589	63	19131											
ATP8A2	51761	hgsc.bcm.edu;ucsc.edu	37	13	26594067	26594067	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr13:26594067C>G	ENST00000381655.2	+	37	3653	c.3511C>G	c.(3511-3513)Cag>Gag	p.Q1171E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.Q1106E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1131					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCTGTTAGTCAGGAAGAAGT	0.423																																																0													122	113	116					13																	26594067		1895	4118	6013	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3511C>G	13.37:g.26594067C>G	ENSP00000371070:p.Gln1171Glu		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851541	0.51270	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.66460	0.3;-0.21	4.97	4.97	0.65823	.	0.129442	0.52532	D	0.000064	D	0.84552	0.5497	M	0.87900	2.915	0.38944	D	0.958212	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.88168	0.2862	10	0.87932	D	0	.	18.4138	0.90561	0.0:1.0:0.0:0.0	.	1106;1131	B7Z880;Q9NTI2	.;AT8A2_HUMAN	E	1171;1106;951	ENSP00000371070:Q1171E;ENSP00000255283:Q1106E	ENSP00000255283:Q1106E	Q	+	1	0	ATP8A2	25492067	1.000000	0.71417	0.956000	0.39512	0.213000	0.24496	5.481000	0.66826	2.589000	0.87451	0.555000	0.69702	CAG		0.423	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		G	26594067	C	G	26594067	3	3	326	1	0	0	0	0	1	0	0	0	1193	827	29	4	3657	4	ATP8A2	13	26594067	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10		26594067	88575811	64	19132											
TMCO3	55002	hgsc.bcm.edu	37	13	114149923	114149923	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr13:114149923C>G	ENST00000434316.2	+	2	386	c.27C>G	c.(25-27)ttC>ttG	p.F9L	TMCO3_ENST00000375391.1_Missense_Mutation_p.F9L|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	9						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GAAGCTTCTTCTGGGTGCTGT	0.622																																																0													94	86	89					13																	114149923		2203	4300	6503	SO:0001583	missense	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.27C>G	13.37:g.114149923C>G	ENSP00000389399:p.Phe9Leu		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	C	2.260	-0.369472	0.05069	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.27104	1.69	5.59	-0.116	0.13555	.	0.995760	0.08155	N	0.989364	T	0.08044	0.0201	N	0.03177	-0.4	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35649	-0.9780	10	0.06494	T	0.89	-10.6576	2.6793	0.05089	0.2228:0.1529:0.4434:0.1809	.	9;9	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	L	9	ENSP00000389399:F9L	ENSP00000364540:F9L	F	+	3	2	TMCO3	113197924	0.003000	0.15002	0.012000	0.15200	0.013000	0.08279	-0.321000	0.08018	0.035000	0.15519	0.650000	0.86243	TTC		0.622	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		G	114149923	C	G	114149923	3	3	326	1	0	0	0	0	1	0	0	0	16002	912	32	4	29	4	TMCO3	13	114149923	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	87555856	114149923	1019955	65	19133											
HERC2	8924	hgsc.bcm.edu;ucsc.edu	37	15	28414709	28414709	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr15:28414709G>C	ENST00000261609.7	-	66	10258	c.10150C>G	c.(10150-10152)Ctc>Gtc	p.L3384V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATGACAAGAGAATCTTGGCA	0.418																																																0													92	87	88					15																	28414709		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10150C>G	15.37:g.28414709G>C	ENSP00000261609:p.Leu3384Val			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	8.975	0.973885	0.18736	.	.	ENSG00000128731	ENST00000261609	T	0.37058	1.22	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	L	0.37750	1.13	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.14699	-1.0463	10	0.06236	T	0.91	.	20.0634	0.97698	0.0:0.0:1.0:0.0	.	3384	O95714	HERC2_HUMAN	V	3384	ENSP00000261609:L3384V	ENSP00000261609:L3384V	L	-	1	0	HERC2	26088304	1.000000	0.71417	0.639000	0.29394	0.844000	0.47949	7.639000	0.83342	2.817000	0.96982	0.643000	0.83706	CTC		0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		C	28414709	G	C	28414709	3	2	326	1	0	0	0	0	1	0	0	0	7060	942	33	4	4466	4	HERC2	15	28414709	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10		28414709	74116683	66	19134	153	2									
HERC2	8924	hgsc.bcm.edu;ucsc.edu	37	15	28414719	28414719	+	Silent	SNP	A	A	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr15:28414719A>G	ENST00000261609.7	-	66	10248	c.10140T>C	c.(10138-10140)ctT>ctC	p.L3380L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAATCTTGGCAAGAGAAGGGC	0.418																																																0													92	88	89					15																	28414719		2203	4300	6503	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10140T>C	15.37:g.28414719A>G				Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28414719	A	G	28414719	2	3	326	1	0	0	0	0	0	0	0	1	7060	117	5	3		3	HERC2	15	28414719	Silent	SNP	A	TCGA-BP-4176-01A-02D-1366-10	10	28414719	74116673	67	19135	153	2									
UBR1	197131	hgsc.bcm.edu;ucsc.edu	37	15	43320014	43320014	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr15:43320014T>C	ENST00000290650.4	-	22	2470	c.2392A>G	c.(2392-2394)Act>Gct	p.T798A	UBR1_ENST00000382177.2_Intron	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	798					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCTAAGCCAGTTTCATTATTT	0.303																																																0													134	119	124					15																	43320014		2201	4298	6499	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2392A>G	15.37:g.43320014T>C	ENSP00000290650:p.Thr798Ala		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308706	0.81247	.	.	ENSG00000159459	ENST00000290650;ENST00000546274	T	0.51325	0.71	5.31	5.31	0.75309	.	0.051633	0.85682	D	0.000000	T	0.48537	0.1505	L	0.55213	1.73	0.80722	D	1	B;D	0.58268	0.228;0.982	B;P	0.48063	0.109;0.565	T	0.40961	-0.9535	10	0.14656	T	0.56	-22.7226	15.4391	0.75168	0.0:0.0:0.0:1.0	.	798;798	B4DYL2;Q8IWV7	.;UBR1_HUMAN	A	798	ENSP00000290650:T798A	ENSP00000290650:T798A	T	-	1	0	UBR1	41107306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.117000	0.77129	2.219000	0.72066	0.528000	0.53228	ACT		0.303	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		C	43320014	T	C	43320014	3	2	326	1	0	0	0	0	1	0	0	0	16906	1725	60	3	2961	3	UBR1	15	43320014	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	14905295	43320014	59211378	68	19136											
LEO1	123169	hgsc.bcm.edu	37	15	52254683	52254683	+	Silent	SNP	T	T	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr15:52254683T>C	ENST00000299601.5	-	3	882	c.822A>G	c.(820-822)gcA>gcG	p.A274A	LEO1_ENST00000315141.5_Silent_p.A274A	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	274	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CACTGCCTCTTGCAGATTCTA	0.363																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)											0													68	62	64					15																	52254683		2195	4293	6488	SO:0001819	synonymous_variant	123169			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.822A>G	15.37:g.52254683T>C			Q96N99	Silent	SNP	ENST00000299601.5	37	CCDS10146.1																																																																																				0.363	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		C	52254683	T	C	52254683	2	2	326	1	0	0	0	0	0	0	0	1	8728	1799	63	3		3	LEO1	15	52254683	Silent	SNP	T	TCGA-BP-4176-01A-02D-1366-10	8934669	52254683	50276709	69	19137											
FAM108C1	58489	hgsc.bcm.edu;ucsc.edu	37	15	81046580	81046580	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr15:81046580A>G	ENST00000258884.4	+	3	986	c.859A>G	c.(859-861)Atg>Gtg	p.M287V	ABHD17C_ENST00000558464.1_Missense_Mutation_p.M253V|ABHD17C_ENST00000560609.1_Missense_Mutation_p.M52V|ABHD17C_ENST00000559506.1_3'UTR	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	287							hydrolase activity (GO:0016787)										TGGCCTAGCGATGTACGAGCG	0.483																																																0													74	72	72					15																	81046580		1949	4141	6090	SO:0001583	missense	58489				CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"Abhydrolase domain containing"	26925	protein-coding gene	gene with protein product			"family with sequence similarity 108, member C1"	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.859A>G	15.37:g.81046580A>G	ENSP00000258884:p.Met287Val		Q1RMD6|Q9NPM1	Missense_Mutation	SNP	ENST00000258884.4	37	CCDS45323.1	.	.	.	.	.	.	.	.	.	.	A	9.310	1.055406	0.19907	.	.	ENSG00000136379	ENST00000258884	T	0.42131	0.98	5.48	4.36	0.52297	.	0.099573	0.64402	N	0.000003	T	0.27629	0.0679	N	0.16166	0.38	0.44985	D	0.998001	B;B	0.13594	0.005;0.008	B;B	0.19666	0.026;0.022	T	0.05649	-1.0872	10	0.62326	D	0.03	.	11.1372	0.48381	0.9283:0.0:0.0717:0.0	.	287;253	Q6PCB6;Q6PCB6-2	F108C_HUMAN;.	V	287	ENSP00000258884:M287V	ENSP00000258884:M287V	M	+	1	0	FAM108C1	78833635	0.990000	0.36364	0.928000	0.36995	0.231000	0.25187	3.017000	0.49615	0.922000	0.37019	0.528000	0.53228	ATG		0.483	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214		G	81046580	A	G	81046580	3	3	326	1	0	0	0	0	1	0	0	0	5395	333	12	3	869	3	FAM108C1	15	81046580	Missense_Mutation	SNP	A	TCGA-BP-4176-01A-02D-1366-10	28791897	81046580	21484812	70	19138											
CNTNAP4	85445	hgsc.bcm.edu	37	16	76509834	76509834	+	Splice_Site	SNP	A	A	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr16:76509834A>T	ENST00000476707.1	+	10	1803		c.e10-1		CNTNAP4_ENST00000469589.1_Splice_Site|CNTNAP4_ENST00000307431.8_Splice_Site|CNTNAP4_ENST00000377504.4_Splice_Site|CNTNAP4_ENST00000478060.1_Splice_Site			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4						cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACCTTCTTTTAGGTGTTTGCC	0.408																																																0													163	142	149					16																	76509834		2198	4300	6498	SO:0001630	splice_region_variant	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1665-1A>T	16.37:g.76509834A>T			E9PFZ6|Q86YZ7	Splice_Site	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	A	12.59	1.984382	0.35036	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2033	0.73157	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP4	75067335	1.000000	0.71417	0.977000	0.42913	0.071000	0.16799	9.004000	0.93583	2.238000	0.73509	0.533000	0.62120	.		0.408	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	Intron	T	76509834	A	T	76509834	5	4	326	1	0	0	0	0	0	0	1	0	3651	434	15	5	1709	5	CNTNAP4	16	76509834	Splice_Site	SNP	A	TCGA-BP-4176-01A-02D-1366-10		76509834	13844919	71	19139											
TP53	7157	hgsc.bcm.edu;ucsc.edu	37	17	7573974	7573974	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr17:7573974C>A	ENST00000269305.4	-	10	1242	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.K351N|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	351	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.				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.I332fs*5(1)|p.L350fs*28(1)|p.?(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)	CCTGGGCATCCTTGAGTTCCA	0.597		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	11	Whole gene deletion(8)|Deletion - Frameshift(2)|Unknown(1)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|urinary_tract(1)											60	46	50					17																	7573974		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1053G>T	17.37:g.7573974C>A	ENSP00000269305:p.Lys351Asn		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	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047119	0.75846	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.93247	-3.19;-3.19	5.43	-0.704	0.11256	p53, tetramerisation domain (3);	0.488693	0.23008	N	0.052999	D	0.93413	0.7899	M	0.75447	2.3	0.35877	D	0.828637	P	0.49447	0.924	P	0.55455	0.776	D	0.91209	0.4997	10	0.56958	D	0.05	-24.255	5.2391	0.15462	0.0:0.4493:0.1484:0.4023	.	351	P04637	P53_HUMAN	N	351;351;340	ENSP00000269305:K351N;ENSP00000391478:K351N	ENSP00000269305:K351N	K	-	3	2	TP53	7514699	0.994000	0.37717	0.912000	0.35992	0.971000	0.66376	0.410000	0.21098	0.019000	0.15079	0.561000	0.74099	AAG		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7573974	C	A	7573974	3	1	326	1	0	0	0	0	1	0	0	0	16386	680	24	4	136	4	TP53	17	7573974	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10		7573974	73621236	72	19140											
SLFN13	146857	hgsc.bcm.edu;ucsc.edu	37	17	33769171	33769171	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr17:33769171A>G	ENST00000285013.6	-	5	1608	c.1333T>C	c.(1333-1335)Tgg>Cgg	p.W445R	SLFN13_ENST00000526861.1_Missense_Mutation_p.W445R|SLFN13_ENST00000534689.1_Missense_Mutation_p.W127R|SLFN13_ENST00000360502.2_Missense_Mutation_p.W127R|SLFN13_ENST00000533791.1_Missense_Mutation_p.W445R|SLFN13_ENST00000542635.1_Missense_Mutation_p.W445R	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	445						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCCACAGCCCAGCTTCTAGAG	0.498																																																0													86	78	81					17																	33769171		2203	4300	6503	SO:0001583	missense	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1333T>C	17.37:g.33769171A>G	ENSP00000285013:p.Trp445Arg		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	a	14.70	2.612589	0.46631	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689;ENST00000532210	T;T;T;T;T;T	0.62941	2.36;1.73;2.36;2.36;1.73;-0.01	3.09	1.95	0.26073	.	0.000000	0.43416	D	0.000564	T	0.76695	0.4023	M	0.86651	2.83	0.30399	N	0.780221	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.99	T	0.72384	-0.4310	10	0.87932	D	0	.	5.3675	0.16121	0.7476:0.0:0.0:0.2524	.	127;445	Q68D06-2;Q68D06	.;SLN13_HUMAN	R	445;127;445;445;127;114	ENSP00000285013:W445R;ENSP00000353692:W127R;ENSP00000434439:W445R;ENSP00000444016:W445R;ENSP00000435442:W127R;ENSP00000435328:W114R	ENSP00000285013:W445R	W	-	1	0	SLFN13	30793284	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	5.571000	0.67404	0.358000	0.24211	0.172000	0.16884	TGG		0.498	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		G	33769171	A	G	33769171	3	3	326	1	0	0	0	0	1	0	0	0	14742	188	7	3	1368	3	SLFN13	17	33769171	Missense_Mutation	SNP	A	TCGA-BP-4176-01A-02D-1366-10	26195197	33769171	47426039	73	19141											
DUSP3	1845	hgsc.bcm.edu;ucsc.edu	37	17	41847147	41847147	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr17:41847147G>A	ENST00000226004.3	-	3	451	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	DUSP3_ENST00000397937.2_Missense_Mutation_p.R89C	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	130	Tyrosine-protein phosphatase.				in utero embryonic development (GO:0001701)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of JNK cascade (GO:0046329)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of mitotic cell cycle (GO:0045931)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GTTGGGGAGCGGCTATAACCT	0.597																																					Esophageal Squamous(114;1511 1593 4801 6912 51717)											0													84	76	79					17																	41847147		2203	4300	6503	SO:0001583	missense	1845			BC035701	CCDS11469.1	17q21	2011-06-09	2008-02-04			ENSG00000108861		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3069	protein-coding gene	gene with protein product		600183	"vaccinia virus phosphatase VH1-related"	VHR		7829094	Standard	NM_004090		Approved		uc002ied.4	P51452		ENST00000226004.3:c.388C>T	17.37:g.41847147G>A	ENSP00000226004:p.Arg130Cys		D3DX45|Q5U0J1|Q8IYJ9	Missense_Mutation	SNP	ENST00000226004.3	37	CCDS11469.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416041	0.96092	.	.	ENSG00000108861	ENST00000226004;ENST00000397937	D;D	0.98381	-4.9;-4.9	5.63	5.63	0.86233	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98376	1.0556	10	0.87932	D	0	-39.3019	19.6709	0.95911	0.0:0.0:1.0:0.0	.	130;130	B5BUI8;P51452	.;DUS3_HUMAN	C	130;89	ENSP00000226004:R130C;ENSP00000443014:R89C	ENSP00000226004:R130C	R	-	1	0	DUSP3	39202673	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.841000	0.99482	2.636000	0.89361	0.655000	0.94253	CGC		0.597	DUSP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453503.1	NM_004090		A	41847147	G	A	41847147	3	1	326	1	0	0	0	0	1	0	0	0	4828	1116	39	1	173	1	DUSP3	17	41847147	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	8077976	41847147	39348063	74	19142											
SNX11	29916	hgsc.bcm.edu	37	17	46190702	46190702	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr17:46190702C>T	ENST00000393405.2	+	5	523	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	SNX11_ENST00000359238.2_Missense_Mutation_p.R57W|SNX11_ENST00000580219.1_Missense_Mutation_p.R49W|SNX11_ENST00000582104.1_Missense_Mutation_p.R49W|SNX11_ENST00000439357.2_Intron|SNX11_ENST00000452859.2_5'UTR|SNX11_ENST00000578861.1_3'UTR	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	57	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						TTCCTGTGTGCGGCGCCGCTA	0.473																																																0													187	182	184					17																	46190702		2203	4300	6503	SO:0001583	missense	29916			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"Sorting nexins"	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.169C>T	17.37:g.46190702C>T	ENSP00000377059:p.Arg57Trp		B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	ENST00000393405.2	37	CCDS11526.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451282	0.84209	.	.	ENSG00000002919	ENST00000393405;ENST00000359238	T;T	0.40225	1.04;1.04	5.38	5.38	0.77491	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67070	-0.5763	10	0.87932	D	0	-3.5289	12.948	0.58384	0.1622:0.8378:0.0:0.0	.	49;57	B4DPY5;Q9Y5W9	.;SNX11_HUMAN	W	57	ENSP00000377059:R57W;ENSP00000352175:R57W	ENSP00000352175:R57W	R	+	1	2	SNX11	43545701	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.344000	0.52174	2.529000	0.85273	0.557000	0.71058	CGG		0.473	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1			T	46190702	C	T	46190702	3	4	326	1	0	0	0	0	1	0	0	0	14888	759	27	1	179	1	SNX11	17	46190702	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	4343555	46190702	35004508	75	19143											
CDH2	1000	hgsc.bcm.edu	37	18	25593663	25593663	+	Missense_Mutation	SNP	G	G	C	rs199902980		TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr18:25593663G>C	ENST00000269141.3	-	3	806	c.383C>G	c.(382-384)aCt>aGt	p.T128S	CDH2_ENST00000399380.3_Missense_Mutation_p.T97S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	128					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGACTCCTCAGTTAAGGTTGG	0.418																																																0								G	SER/THR	0,4406		0,0,2203	151	156	154		383	3.7	0	18		154	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH2	NM_001792.3	58	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	128/907	25593663	1,13005	2203	4300	6503	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.383C>G	18.37:g.25593663G>C	ENSP00000269141:p.Thr128Ser		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	3.082	-0.188750	0.06299	0.0	1.16E-4	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492;ENST00000430882;ENST00000413878	T;T;T;T;T	0.67345	0.48;0.44;-0.26;0.34;0.88	5.55	3.73	0.42828	Cadherin-like (1);	0.568231	0.18218	N	0.147990	T	0.38374	0.1038	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.24548	-1.0157	10	0.06757	T	0.87	.	7.0662	0.25154	0.1501:0.1417:0.7082:0.0	.	97;128	A8MWK3;P19022	.;CADH2_HUMAN	S	128;97;77;43;43	ENSP00000269141:T128S;ENSP00000382312:T97S;ENSP00000411360:T77S;ENSP00000412120:T43S;ENSP00000414269:T43S	ENSP00000269141:T128S	T	-	2	0	CDH2	23847661	0.010000	0.17322	0.005000	0.12908	0.693000	0.40251	1.713000	0.37951	0.686000	0.31488	0.585000	0.79938	ACT		0.418	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		C	25593663	G	C	25593663	3	2	326	1	0	0	0	0	1	0	0	0	3107	1029	36	4	2393	4	CDH2	18	25593663	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10		25593663	52483585	76	19144											
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9087220	9087220	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr19:9087220A>G	ENST00000397910.4	-	1	4798	c.4595T>C	c.(4594-4596)tTa>tCa	p.L1532S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1532	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACAGTTGTTAAGTCCCCAGT	0.473																																																0													328	306	313					19																	9087220		2034	4193	6227	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4595T>C	19.37:g.9087220A>G	ENSP00000381008:p.Leu1532Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	1.054	-0.675028	0.03378	.	.	ENSG00000181143	ENST00000397910	T	0.03181	4.02	0.821	-0.475	0.12104	.	.	.	.	.	T	0.02083	0.0065	N	0.08118	0	.	.	.	D	0.55172	0.97	B	0.43680	0.427	T	0.43376	-0.9395	8	0.87932	D	0	.	2.7312	0.05227	0.5768:0.0:0.0:0.4232	.	1532	B5ME49	.	S	1532	ENSP00000381008:L1532S	ENSP00000381008:L1532S	L	-	2	0	MUC16	8948220	0.001000	0.12720	0.057000	0.19452	0.085000	0.17905	-0.371000	0.07513	-0.250000	0.09555	0.260000	0.18958	TTA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9087220	A	G	9087220	3	3	326	1	0	0	0	0	1	0	0	0	9975	372	13	3	39264	3	MUC16	19	9087220	Missense_Mutation	SNP	A	TCGA-BP-4176-01A-02D-1366-10		9087220	50041763	77	19145											
ACP5	54	hgsc.bcm.edu	37	19	11685841	11685841	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr19:11685841C>T	ENST00000592828.1	-	7	1364	c.962G>A	c.(961-963)aGg>aAg	p.R321K	ACP5_ENST00000218758.5_Missense_Mutation_p.R321K|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.R321K|ACP5_ENST00000590420.1_3'UTR|ACP5_ENST00000433365.2_Missense_Mutation_p.R321K	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	321					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CCTGGCTCGCCTCGGCAGCCT	0.612																																																0													45	46	46					19																	11685841		2203	4300	6503	SO:0001583	missense	54			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"tartrate-resistant acid phosphatase"	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.962G>A	19.37:g.11685841C>T	ENSP00000468767:p.Arg321Lys		A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646044	0.29246	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.65178	-0.14;-0.14;-0.14	5.08	4.04	0.47022	.	0.439517	0.26387	N	0.024679	T	0.40145	0.1105	N	0.20357	0.565	0.22500	N	0.999047	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	10	0.02654	T	1	-2.3415	10.7795	0.46369	0.0:0.909:0.0:0.091	.	321	P13686	PPA5_HUMAN	K	321	ENSP00000218758:R321K;ENSP00000392374:R321K;ENSP00000413456:R321K	ENSP00000218758:R321K	R	-	2	0	ACP5	11546841	0.003000	0.15002	0.020000	0.16555	0.101000	0.19017	1.265000	0.33027	1.136000	0.42199	0.550000	0.68814	AGG		0.612	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			T	11685841	C	T	11685841	3	4	326	1	0	0	0	0	1	0	0	0	164	681	24	2	19	2	ACP5	19	11685841	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	2598621	11685841	47443142	78	19146											
CCDC123	84902	hgsc.bcm.edu	37	19	33444588	33444588	+	Missense_Mutation	SNP	T	T	G	rs73035551		TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr19:33444588T>G	ENST00000305768.5	-	4	513	c.425A>C	c.(424-426)gAt>gCt	p.D142A	CEP89_ENST00000590597.2_Missense_Mutation_p.D142A	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	142					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GGCACTGACATCCCCCAATTC	0.498																																																0													316	324	321					19																	33444588		2203	4300	6503	SO:0001583	missense	0			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.425A>C	19.37:g.33444588T>G	ENSP00000306105:p.Asp142Ala		B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192254	0.21954	.	.	ENSG00000121289	ENST00000305768	T	0.30714	1.52	4.63	2.25	0.28309	.	0.534254	0.18575	N	0.137213	T	0.27134	0.0665	L	0.60455	1.87	0.09310	N	1	P;B;B	0.51933	0.949;0.039;0.034	B;B;B	0.43301	0.415;0.022;0.036	T	0.11966	-1.0566	10	0.20519	T	0.43	-3.9698	8.2406	0.31658	0.0:0.0:0.4001:0.5999	.	113;142;142	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	A	142	ENSP00000306105:D142A	ENSP00000306105:D142A	D	-	2	0	CEP89	38136428	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-0.179000	0.09768	0.681000	0.31386	0.477000	0.44152	GAT		0.498	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		G	33444588	T	G	33444588	3	3	326	1	0	0	0	0	1	0	0	0	2761	1435	50	5	1990	5	CCDC123	19	33444588	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	21758747	33444588	25684395	79	19147											
COX6B1	1340	hgsc.bcm.edu;ucsc.edu	37	19	36142196	36142196	+	Silent	SNP	T	T	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr19:36142196T>C	ENST00000592141.1	+	2	316	c.51T>C	c.(49-51)ttT>ttC	p.F17F	COX6B1_ENST00000246554.3_Silent_p.F17F|COX6B1_ENST00000392201.1_Silent_p.F17F			P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	17					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCCCCTTTTGACAGCCGCT	0.567																																																0													96	81	86					19																	36142196		2203	4300	6503	SO:0001819	synonymous_variant	1340			BC001015	CCDS12469.1	19q13.1	2011-07-04	2010-01-07	2004-08-12	ENSG00000126267	ENSG00000126267	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2280	protein-coding gene	gene with protein product		124089	"cytochrome c oxidase subunit Vib", "cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)"	COX6B		1650756	Standard	NM_001863		Approved	COXG	uc002oav.3	P14854	OTTHUMG00000048112	ENST00000592141.1:c.51T>C	19.37:g.36142196T>C			B2R5C9|Q6IBL4	Silent	SNP	ENST00000592141.1	37	CCDS12469.1																																																																																				0.567	COX6B1-004	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459068.3	NM_001863		C	36142196	T	C	36142196	2	2	326	1	0	0	0	0	0	0	0	1	3778	1809	63	3		3	COX6B1	19	36142196	Silent	SNP	T	TCGA-BP-4176-01A-02D-1366-10	2697608	36142196	22986787	80	19148											
ZNF180	7733	hgsc.bcm.edu	37	19	45001361	45001361	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr19:45001361G>A	ENST00000221327.4	-	2	388	c.107C>T	c.(106-108)cCa>cTa	p.P36L	ZNF180_ENST00000391956.4_Missense_Mutation_p.P36L|ZNF180_ENST00000587047.1_Nonsense_Mutation_p.Q38*|ZNF180_ENST00000586637.1_Nonsense_Mutation_p.Q5*|ZNF180_ENST00000585514.1_5'UTR|ZNF180_ENST00000592529.1_Missense_Mutation_p.P9L	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P36L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CGGGGGCTCTGGGGGCTTCTC	0.612																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)											1	Substitution - Missense(1)	ovary(1)											41	39	40					19																	45001361		2203	4300	6503	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.107C>T	19.37:g.45001361G>A	ENSP00000221327:p.Pro36Leu		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267915	0.40095	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.07688	3.23;3.17	3.74	-2.61	0.06171	.	.	.	.	.	T	0.03871	0.0109	N	0.14661	0.345	0.53688	A	0.999979	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.42882	-0.9425	8	0.72032	D	0.01	0.1136	0.7119	0.00926	0.3088:0.1651:0.3572:0.1689	.	36;35;36	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	L	36	ENSP00000221327:P36L;ENSP00000375818:P36L	ENSP00000221327:P36L	P	-	2	0	ZNF180	49693201	0.042000	0.20092	0.010000	0.14722	0.560000	0.35617	-0.115000	0.10741	-0.321000	0.08627	0.655000	0.94253	CCA		0.612	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		A	45001361	G	A	45001361	3	1	326	1	0	0	0	0	1	0	0	0	17753	1348	47	2	1987	2	ZNF180	19	45001361	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10	8859165	45001361	14127622	81	19149											
SIGLEC7	27036	hgsc.bcm.edu;ucsc.edu	37	19	51645785	51645785	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr19:51645785C>G	ENST00000317643.6	+	1	228	c.159C>G	c.(157-159)gaC>gaG	p.D53E	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.D53E|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.D53E	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	53	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACCCAGTGGACAGCCAGACTG	0.562																																																0													146	109	122					19																	51645785		2203	4300	6503	SO:0001583	missense	27036			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.159C>G	19.37:g.51645785C>G	ENSP00000323328:p.Asp53Glu		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	1.335	-0.595726	0.03771	.	.	ENSG00000168995	ENST00000317643;ENST00000305628;ENST00000536156	T;T;T	0.21734	1.99;1.99;1.99	2.62	-5.24	0.02789	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	4.519710	0.01195	N	0.007423	T	0.09818	0.0241	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.0;0.002	T	0.21827	-1.0234	10	0.15499	T	0.54	.	3.9911	0.09537	0.1431:0.5652:0.1514:0.1403	.	53;53;53	Q9Y286-4;Q9Y286-2;Q9Y286	.;.;SIGL7_HUMAN	E	53	ENSP00000323328:D53E;ENSP00000306757:D53E;ENSP00000437609:D53E	ENSP00000306757:D53E	D	+	3	2	SIGLEC7	56337597	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.979000	0.01493	-2.534000	0.00489	-0.729000	0.03580	GAC		0.562	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		G	51645785	C	G	51645785	3	3	326	1	0	0	0	0	1	0	0	0	14319	477	17	4	161	4	SIGLEC7	19	51645785	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	6644424	51645785	7483198	82	19150											
ZNF667	63934	hgsc.bcm.edu;ucsc.edu	37	19	56953747	56953747	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr19:56953747C>G	ENST00000504904.3	-	7	1336	c.617G>C	c.(616-618)gGg>gCg	p.G206A	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.G206A|ZNF667_ENST00000342634.3_Missense_Mutation_p.G334A			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GAAGCTTTCCCCACATTTATT	0.383																																																0													182	187	185					19																	56953747		2202	4300	6502	SO:0001583	missense	63934				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.617G>C	19.37:g.56953747C>G	ENSP00000439402:p.Gly206Ala		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.310958	0.40895	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000360227	T;T;T	0.57595	0.39;0.39;0.39	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000402	T	0.75831	0.3903	M	0.86420	2.815	0.39739	D	0.971721	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.81527	-0.0892	10	0.87932	D	0	-11.2444	15.7879	0.78322	0.0:1.0:0.0:0.0	.	334;206	E7EPS0;Q5HYK9	.;ZN667_HUMAN	A	334;206;206;80	ENSP00000344699:G334A;ENSP00000439402:G206A;ENSP00000292069:G206A	ENSP00000292069:G206A	G	-	2	0	ZNF667	61645559	0.422000	0.25473	0.961000	0.40146	0.017000	0.09413	1.446000	0.35090	2.581000	0.87130	0.591000	0.81541	GGG		0.383	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		G	56953747	C	G	56953747	3	3	326	1	0	0	0	0	1	0	0	0	18079	623	22	4	1219	4	ZNF667	19	56953747	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	5307962	56953747	2175236	83	19151											
ZNF134	7693	hgsc.bcm.edu	37	19	58132725	58132725	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr19:58132725C>G	ENST00000396161.5	+	3	1548	c.1238C>G	c.(1237-1239)tCc>tGc	p.S413C		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGCTTAAGCTCCCACCTCAAT	0.463																																																0													157	164	161					19																	58132725		2203	4300	6503	SO:0001583	missense	7693			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1238C>G	19.37:g.58132725C>G	ENSP00000379464:p.Ser413Cys		Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914210	0.72983	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.08282	3.11	4.37	3.24	0.37175	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29684	0.0741	M	0.86343	2.81	0.09310	N	1	D	0.76494	0.999	P	0.61328	0.887	T	0.04386	-1.0955	9	0.72032	D	0.01	.	13.0978	0.59202	0.1612:0.8388:0.0:0.0	.	413	P52741	ZN134_HUMAN	C	480;333;413	ENSP00000379464:S413C	ENSP00000379464:S413C	S	+	2	0	ZNF134	62824537	0.028000	0.19301	0.016000	0.15963	0.995000	0.86356	1.142000	0.31540	2.408000	0.81797	0.563000	0.77884	TCC		0.463	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		G	58132725	C	G	58132725	3	3	326	1	0	0	0	0	1	0	0	0	17729	855	30	4	1244	4	ZNF134	19	58132725	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	1178978	58132725	996258	84	19152											
TMX4	56255	hgsc.bcm.edu;ucsc.edu	37	20	7962956	7962956	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr20:7962956T>C	ENST00000246024.2	-	8	1207	c.992A>G	c.(991-993)gAg>gGg	p.E331G		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	331	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TTCCACCACCTCTGTGTCAGC	0.527																																																0													95	88	90					20																	7962956		2203	4300	6503	SO:0001583	missense	56255				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.992A>G	20.37:g.7962956T>C	ENSP00000246024:p.Glu331Gly		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.134049	0.56828	.	.	ENSG00000125827	ENST00000246024	T	0.11604	2.76	5.72	3.38	0.38709	.	0.549745	0.18334	N	0.144392	T	0.11067	0.0270	L	0.57536	1.79	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.21999	-1.0229	10	0.72032	D	0.01	-8.6891	5.2502	0.15517	0.1553:0.0852:0.0:0.7595	.	331	Q9H1E5	TMX4_HUMAN	G	331	ENSP00000246024:E331G	ENSP00000246024:E331G	E	-	2	0	TMX4	7910956	0.836000	0.29430	0.029000	0.17559	0.546000	0.35178	2.725000	0.47294	1.002000	0.39104	0.455000	0.32223	GAG		0.527	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		C	7962956	T	C	7962956	3	2	326	1	0	0	0	0	1	0	0	0	16274	1551	54	3	61	3	TMX4	20	7962956	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10		7962956	55062564	85	19153											
CSE1L	1434	hgsc.bcm.edu;ucsc.edu	37	20	47707554	47707554	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr20:47707554T>A	ENST00000262982.2	+	21	2483	c.2360T>A	c.(2359-2361)aTc>aAc	p.I787N	CSE1L_ENST00000542325.1_Missense_Mutation_p.I570N|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.I731N	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	787					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ACCAAGTTTATCAAGAGTAAG	0.313																																																0													43	46	45					20																	47707554		2202	4294	6496	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2360T>A	20.37:g.47707554T>A	ENSP00000262982:p.Ile787Asn		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756732	0.89843	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.68025	-0.3;-0.3;-0.3	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.148445	0.64402	D	0.000008	T	0.70718	0.3256	L	0.46157	1.445	0.80722	D	1	P;P;B;B;P	0.44195	0.828;0.808;0.079;0.071;0.537	B;P;B;B;B	0.51266	0.431;0.664;0.063;0.059;0.36	T	0.71613	-0.4540	10	0.48119	T	0.1	-8.0406	15.8584	0.79005	0.0:0.0:0.0:1.0	.	476;570;731;731;787	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	N	385;787;570;731	ENSP00000262982:I787N;ENSP00000446477:I570N;ENSP00000379495:I731N	ENSP00000262982:I787N	I	+	2	0	CSE1L	47140961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.655000	0.83696	2.201000	0.70794	0.528000	0.53228	ATC		0.313	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		A	47707554	T	A	47707554	3	1	326	1	0	0	0	0	1	0	0	0	3932	1435	50	5	2438	5	CSE1L	20	47707554	Missense_Mutation	SNP	T	TCGA-BP-4176-01A-02D-1366-10	39744598	47707554	15317966	86	19154											
BRWD1	54014	hgsc.bcm.edu;ucsc.edu	37	21	40571019	40571019	+	Missense_Mutation	SNP	G	G	T	rs202178838		TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr21:40571019G>T	ENST00000333229.2	-	40	5650	c.5323C>A	c.(5323-5325)Cca>Aca	p.P1775T	BRWD1_ENST00000342449.3_Missense_Mutation_p.P1775T|BRWD1_ENST00000380800.3_Missense_Mutation_p.P1775T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1775					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GACGTTGATGGGCCAGCAGTT	0.408																																					Melanoma(170;988 1986 4794 16843 39731)											0													99	99	99					21																	40571019		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5323C>A	21.37:g.40571019G>T	ENSP00000330753:p.Pro1775Thr		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341331	0.60963	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.54479	0.57;0.59;0.66	5.48	5.48	0.80851	.	0.190219	0.37906	N	0.001890	T	0.52773	0.1755	M	0.66939	2.045	0.58432	D	0.999999	P;P	0.47106	0.867;0.89	B;B	0.42282	0.382;0.343	T	0.56505	-0.7968	10	0.44086	T	0.13	-10.9917	13.3977	0.60863	0.0:0.0:0.8434:0.1566	.	1775;1775	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	T	1775	ENSP00000330753:P1775T;ENSP00000344333:P1775T;ENSP00000370178:P1775T	ENSP00000330753:P1775T	P	-	1	0	BRWD1	39492889	0.977000	0.34250	0.978000	0.43139	0.868000	0.49771	3.511000	0.53400	2.576000	0.86940	0.655000	0.94253	CCA		0.408	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		T	40571019	G	T	40571019	3	4	326	1	0	0	0	0	1	0	0	0	1527	1232	43	4	1890	4	BRWD1	21	40571019	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10		40571019	7558876	87	19155											
FTCD	10841	hgsc.bcm.edu	37	21	47570414	47570414	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr21:47570414C>G	ENST00000291670.5	-	6	705	c.662G>C	c.(661-663)gGc>gCc	p.G221A	FTCD_ENST00000397746.3_Missense_Mutation_p.G221A|FTCD_ENST00000397743.1_Missense_Mutation_p.G221A|FTCD_ENST00000359679.2_Missense_Mutation_p.G221A|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397748.1_Missense_Mutation_p.G221A|FTCD_ENST00000355384.2_Missense_Mutation_p.G221A|FTCD-AS1_ENST00000446649.1_RNA	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	221	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CCAGCCAATGCCCTGAACTTT	0.577																																																0													126	115	118					21																	47570414		2203	4300	6503	SO:0001583	missense	10841			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.662G>C	21.37:g.47570414C>G	ENSP00000291670:p.Gly221Ala		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	C	2.799	-0.249573	0.05867	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	4.83	2.91	0.33838	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase, C-terminal subdomain (2);Formiminotransferase catalytic domain (1);	0.377447	0.28927	N	0.013692	T	0.46580	0.1400	N	0.05467	-0.045	0.46356	D	0.999003	B;B;B	0.29253	0.239;0.201;0.184	B;B;B	0.37943	0.171;0.114;0.261	T	0.36311	-0.9753	10	0.02654	T	1	.	14.509	0.67772	0.0:0.5383:0.4617:0.0	.	221;221;221	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	A	221	ENSP00000291670:G221A;ENSP00000380856:G221A;ENSP00000352707:G221A;ENSP00000347545:G221A;ENSP00000380854:G221A;ENSP00000380851:G221A	ENSP00000291670:G221A	G	-	2	0	FTCD	46394842	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	0.735000	0.26115	0.398000	0.25338	-0.219000	0.12488	GGC		0.577	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		G	47570414	C	G	47570414	3	3	326	1	0	0	0	0	1	0	0	0	6083	739	26	4	999	4	FTCD	21	47570414	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	6999395	47570414	559481	88	19156											
CLTCL1	8218	hgsc.bcm.edu	37	22	19220820	19220820	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chr22:19220820C>T	ENST00000263200.10	-	9	1462	c.1390G>A	c.(1390-1392)Gga>Aga	p.G464R	CLTCL1_ENST00000353891.5_Missense_Mutation_p.G464R|CLTCL1_ENST00000427926.1_Missense_Mutation_p.G464R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	464	Binding site for the uncoating ATPase, involved in lattice disassembly. {ECO:0000255}.|Globular terminal domain.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACCAAGTCTCCGAGCTCCTCT	0.552			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													85	83	84					22																	19220820		1996	4154	6150	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1390G>A	22.37:g.19220820C>T	ENSP00000445677:p.Gly464Arg		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192524	0.78902	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.80994	-1.44;-1.44;-1.44	3.92	3.92	0.45320	Armadillo-type fold (2);	0.000000	0.64402	D	0.000001	D	0.92538	0.7630	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95016	0.8156	10	0.87932	D	0	-13.3067	16.4728	0.84119	0.0:1.0:0.0:0.0	.	464;464	P53675-2;P53675	.;CLH2_HUMAN	R	464	ENSP00000439662:G464R;ENSP00000445677:G464R;ENSP00000441158:G464R	ENSP00000445677:G464R	G	-	1	0	CLTCL1	17600820	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	4.121000	0.57904	2.177000	0.69029	0.591000	0.81541	GGA		0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		T	19220820	C	T	19220820	3	4	326	1	0	0	0	0	1	0	0	0	3569	661	23	1	3628	1	CLTCL1	22	19220820	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10		19220820	32083746	89	19157											
HDAC6	10013	hgsc.bcm.edu	37	X	48681739	48681739	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chrX:48681739G>A	ENST00000334136.5	+	25	3108	c.2930G>A	c.(2929-2931)gGc>gAc	p.G977D	HDAC6_ENST00000376619.2_Missense_Mutation_p.G977D|HDAC6_ENST00000444343.2_Missense_Mutation_p.G991D			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	977					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GCCACGCTGGGCCAGACTACC	0.637																																					Pancreas(112;205 1675 2305 8976 15959)											0													26	25	25					X																	48681739		2194	4296	6490	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2930G>A	X.37:g.48681739G>A	ENSP00000334061:p.Gly977Asp		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067421	0.36470	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.56103	0.48;0.49;0.49	4.17	-4.84	0.03151	.	.	.	.	.	T	0.21509	0.0518	N	0.03608	-0.345	0.09310	N	0.999991	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.31194	-0.9952	9	0.10636	T	0.68	.	8.3513	0.32303	0.231:0.0:0.618:0.151	.	967;340;625;977	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	D	991;977;977	ENSP00000398566:G991D;ENSP00000334061:G977D;ENSP00000365804:G977D	ENSP00000334061:G977D	G	+	2	0	HDAC6	48566683	0.000000	0.05858	0.000000	0.03702	0.894000	0.52154	-0.797000	0.04570	-1.174000	0.02754	-0.340000	0.08031	GGC		0.637	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		A	48681739	G	A	48681739	3	1	326	1	0	0	0	0	1	0	0	0	7013	1203	42	2	3024	2	HDAC6	23	48681739	Missense_Mutation	SNP	G	TCGA-BP-4176-01A-02D-1366-10		48681739	106588821	90	19158											
CSTF2	1478	hgsc.bcm.edu	37	X	100088269	100088269	+	Silent	SNP	G	G	A			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chrX:100088269G>A	ENST00000372972.2	+	11	1324	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CSTF2_ENST00000415585.2_Silent_p.E456E	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	436	12 X 5 AA tandem repeats of M-E-A-R-[AG].				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GTGCAATGGAGGCCCGTGCGA	0.622																																																0													52	42	45					X																	100088269		2203	4300	6503	SO:0001819	synonymous_variant	1478			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1308G>A	X.37:g.100088269G>A			Q5H951|Q6LA74|Q8N502	Silent	SNP	ENST00000372972.2	37	CCDS14473.1																																																																																				0.622	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		A	100088269	G	A	100088269	2	1	326	1	0	0	0	0	0	0	0	1	3986	991	35	2		2	CSTF2	23	100088269	Silent	SNP	G	TCGA-BP-4176-01A-02D-1366-10	51406530	100088269	55182291	91	19159											
GPR112	139378	hgsc.bcm.edu;ucsc.edu	37	X	135432122	135432122	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4176-01A-02D-1366-10	TCGA-BP-4176-11A-01D-1366-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	33e2b6cb-7c03-4090-bef5-ba13f7271a19	1eba4efc-588d-4bd6-9a70-3dd29f262753	g.chrX:135432122C>G	ENST00000394143.1	+	6	6548	c.6257C>G	c.(6256-6258)aCt>aGt	p.T2086S	GPR112_ENST00000370652.1_Missense_Mutation_p.T2086S|GPR112_ENST00000287534.4_Missense_Mutation_p.T2023S|GPR112_ENST00000412101.1_Missense_Mutation_p.T1881S|GPR112_ENST00000394141.1_Missense_Mutation_p.T1881S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2086					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCTTCCCAACTTCTCTCCCT	0.473																																																0													219	167	184					X																	135432122		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6257C>G	X.37:g.135432122C>G	ENSP00000377699:p.Thr2086Ser		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	12.05	1.822450	0.32237	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.40756	1.05;1.05;1.02;1.25;1.02	3.6	-0.552	0.11818	.	.	.	.	.	T	0.18045	0.0433	N	0.17082	0.46	0.09310	N	1	B;B;B	0.32918	0.123;0.047;0.39	B;B;B	0.24541	0.052;0.013;0.054	T	0.18808	-1.0325	9	0.15066	T	0.55	.	4.1789	0.10365	0.0:0.3975:0.3655:0.237	.	2023;1881;2086	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	2086;2086;1881;2023;1881	ENSP00000377699:T2086S;ENSP00000359686:T2086S;ENSP00000416526:T1881S;ENSP00000287534:T2023S;ENSP00000377697:T1881S	ENSP00000287534:T2023S	T	+	2	0	GPR112	135259788	0.032000	0.19561	0.004000	0.12327	0.592000	0.36648	0.067000	0.14510	-0.391000	0.07763	-0.362000	0.07510	ACT		0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			G	135432122	C	G	135432122	3	3	326	1	0	0	0	0	1	0	0	0	6631	565	20	4	6267	4	GPR112	23	135432122	Missense_Mutation	SNP	C	TCGA-BP-4176-01A-02D-1366-10	35343853	135432122	19838438	92	19160											
AHDC1	27245	broad.mit.edu	37	1	27878461	27878461	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr1:27878461C>T	ENST00000247087.5	-	5	762	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	AHDC1_ENST00000374011.2_Missense_Mutation_p.A56T			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	56	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCGGAGAAGGCGTGGGTGGAG	0.756																																																0													8	11	10					1																	27878461		2078	4076	6154	SO:0001583	missense	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.166G>A	1.37:g.27878461C>T	ENSP00000247087:p.Ala56Thr		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	4.825	0.153348	0.09185	.	.	ENSG00000126705	ENST00000247087;ENST00000374011;ENST00000407475	T;T	0.41065	1.01;1.01	4.08	0.533	0.17121	.	.	.	.	.	T	0.14442	0.0349	N	0.03608	-0.345	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	9	0.02654	T	1	-5.7182	5.5913	0.17303	0.0:0.412:0.0:0.588	.	56	Q5TGY3	AHDC1_HUMAN	T	56	ENSP00000247087:A56T;ENSP00000363123:A56T	ENSP00000247087:A56T	A	-	1	0	AHDC1	27751048	0.997000	0.39634	0.994000	0.49952	0.961000	0.63080	0.808000	0.27154	0.065000	0.16485	0.305000	0.20034	GCC		0.756	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			T	27878461	C	T	27878461	3	4	327	1	0	0	0	0	1	0	0	0	412	768	27	1	4649	1	AHDC1	1	27878461	Missense_Mutation	SNP	C	TCGA-BP-4177-01A-02D-1421-08		27878461	221372160	1	19161											
ECHDC2	55268	broad.mit.edu	37	1	53373542	53373542	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr1:53373542A>G	ENST00000371522.4	-	4	455	c.362T>C	c.(361-363)aTc>aCc	p.I121T	ECHDC2_ENST00000541281.1_Missense_Mutation_p.I75T|ECHDC2_ENST00000358358.5_Missense_Mutation_p.I121T|ECHDC2_ENST00000536120.1_Missense_Mutation_p.I75T	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	121					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						ATCCTCACCGATGTCATTCAT	0.607																																																0													83	77	79					1																	53373542		2203	4300	6503	SO:0001583	missense	55268			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.362T>C	1.37:g.53373542A>G	ENSP00000360577:p.Ile121Thr		D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	a	13.18	2.159008	0.38119	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988;ENST00000541281	T;T;T;T;T	0.79554	-0.6;-1.28;-0.6;-1.28;-0.6	5.19	5.19	0.71726	Crotonase, core (1);	0.154274	0.56097	D	0.000023	D	0.88588	0.6477	M	0.73372	2.23	0.51482	D	0.999924	D;B;B	0.89917	1.0;0.221;0.088	D;B;B	0.97110	1.0;0.155;0.071	D	0.89888	0.4035	10	0.87932	D	0	.	14.3737	0.66860	1.0:0.0:0.0:0.0	.	75;121;121	B4DSN9;Q86YB7;Q86YB7-2	.;ECHD2_HUMAN;.	T	121;121;75;121;75	ENSP00000360577:I121T;ENSP00000351125:I121T;ENSP00000439264:I75T;ENSP00000441962:I121T;ENSP00000445358:I75T	ENSP00000351125:I121T	I	-	2	0	ECHDC2	53146130	1.000000	0.71417	0.988000	0.46212	0.163000	0.22366	7.813000	0.86123	2.087000	0.62958	0.450000	0.29827	ATC		0.607	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		G	53373542	A	G	53373542	3	3	327	1	0	0	0	0	1	0	0	0	4896	333	12	3	447	3	ECHDC2	1	53373542	Missense_Mutation	SNP	A	TCGA-BP-4177-01A-02D-1421-08	25495081	53373542	195877079	2	19162											
HEATR5B	54497	broad.mit.edu	37	2	37227889	37227889	+	Silent	SNP	C	C	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr2:37227889C>T	ENST00000233099.5	-	33	5480	c.5385G>A	c.(5383-5385)aaG>aaA	p.K1795K	HEATR5B_ENST00000354531.2_Silent_p.K1706K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1795						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TATCTGCAGACTTTATTGCTG	0.398																																																0													119	128	125					2																	37227889		2203	4300	6503	SO:0001819	synonymous_variant	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5385G>A	2.37:g.37227889C>T			B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	CCDS33181.1																																																																																				0.398	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		T	37227889	C	T	37227889	2	4	327	1	0	0	0	0	0	0	0	1	7034	564	20	2		2	HEATR5B	2	37227889	Silent	SNP	C	TCGA-BP-4177-01A-02D-1421-08		37227889	205971484	3	19163											
TTN	7273	broad.mit.edu	37	2	179458701	179458701	+	Missense_Mutation	SNP	T	T	G	rs186563991	byFrequency	TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr2:179458701T>G	ENST00000591111.1	-	247	53720	c.53496A>C	c.(53494-53496)caA>caC	p.Q17832H	TTN_ENST00000359218.5_Missense_Mutation_p.Q10533H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q19473H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q10600H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q16905H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q10408H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17832	Ig-like 104.				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)			CAACATTAACTTGACAGAAAC	0.368																																																0													168	163	164					2																	179458701		1939	4138	6077	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53496A>C	2.37:g.179458701T>G	ENSP00000465570:p.Gln17832His		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.39	1.922399	0.33908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.17	3.73	0.42828	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66597	0.2805	L	0.29908	0.895	0.30166	N	0.801725	P;P;P;P	0.49696	0.927;0.927;0.927;0.927	P;P;P;P	0.55161	0.77;0.77;0.77;0.77	T	0.65586	-0.6132	9	0.87932	D	0	.	11.1205	0.48287	0.0:0.1272:0.0:0.8728	.	10408;10533;10600;17832	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16905;10408;10600;10533;10406	ENSP00000343764:Q16905H;ENSP00000434586:Q10408H;ENSP00000340554:Q10600H;ENSP00000352154:Q10533H	ENSP00000340554:Q10600H	Q	-	3	2	TTN	179166947	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.257000	0.43240	1.111000	0.41721	0.533000	0.62120	CAA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179458701	T	G	179458701	3	3	327	1	0	0	0	0	1	0	0	0	16740	1606	56	5	49824	5	TTN	2	179458701	Missense_Mutation	SNP	T	TCGA-BP-4177-01A-02D-1421-08	142230812	179458701	63740672	4	19164											
YIPF7	285525	broad.mit.edu	37	4	44631452	44631452	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr4:44631452A>G	ENST00000332990.5	-	4	482	c.466T>C	c.(466-468)Ttt>Ctt	p.F156L	YIPF7_ENST00000415895.4_Missense_Mutation_p.F132L	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	156						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCTACGCAAAAAAGAATGGGT	0.443																																																0													75	84	81					4																	44631452		1915	4121	6036	SO:0001583	missense	285525			AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"Yip1 domain family"	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.466T>C	4.37:g.44631452A>G	ENSP00000332772:p.Phe156Leu		Q3SY21|Q3SY22	Missense_Mutation	SNP	ENST00000332990.5	37	CCDS54766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.599295|4.599295	0.87055|0.87055	.|.	.|.	ENSG00000177752|ENSG00000177752	ENST00000332990|ENST00000415895	T|.	0.39592|.	1.07|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Yip1 domain (1);|.	0.109676|0.109676	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.72244|0.72244	0.3436|0.3436	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	P|.	0.51351|.	0.944|.	P|.	0.61070|.	0.883|.	T|T	0.71915|0.71915	-0.4448|-0.4448	10|6	0.30078|.	T|.	0.28|.	-15.641|-15.641	14.8413|14.8413	0.70226|0.70226	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	156|.	Q8N8F6|.	YIPF7_HUMAN|.	L|S	156|132	ENSP00000332772:F156L|.	ENSP00000332772:F156L|.	F|F	-|-	1|2	0|0	YIPF7|YIPF7	44326209|44326209	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.518000|0.518000	0.34316|0.34316	9.077000|9.077000	0.94016|0.94016	2.285000|2.285000	0.76669|0.76669	0.477000|0.477000	0.44152|0.44152	TTT|TTT		0.443	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		G	44631452	A	G	44631452	3	3	327	1	0	0	0	0	1	0	0	0	17488	14	1	3	388	3	YIPF7	4	44631452	Missense_Mutation	SNP	A	TCGA-BP-4177-01A-02D-1421-08		44631452	146522824	5	19165											
AGPAT9	84803	broad.mit.edu	37	4	84502830	84502830	+	Silent	SNP	A	A	G			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr4:84502830A>G	ENST00000395226.2	+	4	542	c.324A>G	c.(322-324)gtA>gtG	p.V108V	AGPAT9_ENST00000264409.4_Silent_p.V108V	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	108					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				AAGCCATTGTAGAAGATGAAG	0.463																																																0													181	176	178					4																	84502830		2203	4300	6503	SO:0001819	synonymous_variant	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.324A>G	4.37:g.84502830A>G			Q68CJ4|Q6GPI6|Q96NA3	Silent	SNP	ENST00000395226.2	37	CCDS3606.1																																																																																				0.463	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		G	84502830	A	G	84502830	2	3	327	1	0	0	0	0	0	0	0	1	392	407	15	3		3	AGPAT9	4	84502830	Silent	SNP	A	TCGA-BP-4177-01A-02D-1421-08	39871378	84502830	106651446	6	19166											
TACR3	6870	broad.mit.edu	37	4	104512715	104512715	+	Silent	SNP	G	G	A			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr4:104512715G>A	ENST00000304883.2	-	4	1154	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	338					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGCTAGCCAGGTAGACCTGCT	0.398																																																0													160	154	156					4																	104512715		2203	4300	6503	SO:0001819	synonymous_variant	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1014C>T	4.37:g.104512715G>A			Q0P510	Silent	SNP	ENST00000304883.2	37	CCDS3664.1																																																																																				0.398	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		A	104512715	G	A	104512715	2	1	327	1	0	0	0	0	0	0	0	1	15512	1256	44	2		2	TACR3	4	104512715	Silent	SNP	G	TCGA-BP-4177-01A-02D-1421-08	20009885	104512715	86641561	7	19167											
OCLN	100506658	broad.mit.edu	37	5	68840911	68840911	+	Silent	SNP	C	C	G			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr5:68840911C>G	ENST00000355237.2	+	6	1654	c.1218C>G	c.(1216-1218)ggC>ggG	p.G406G	OCLN_ENST00000538151.1_Silent_p.G155G|OCLN_ENST00000396442.2_Silent_p.G406G|OCLN_ENST00000542132.1_Silent_p.G84G|OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000380766.2_Silent_p.G352G	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	406					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CAACTGGCGGCGAGTCCTGTG	0.507																																																0													127	107	114					5																	68840911		2202	4298	6500	SO:0001819	synonymous_variant	100506658			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.1218C>G	5.37:g.68840911C>G			B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Silent	SNP	ENST00000355237.2	37	CCDS4006.1																																																																																				0.507	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		G	68840911	C	G	68840911	2	3	327	1	0	0	0	0	0	0	0	1	10822	755	27	4		4	OCLN	5	68840911	Silent	SNP	C	TCGA-BP-4177-01A-02D-1421-08		68840911	112074349	8	19168											
GNA12	2768	broad.mit.edu	37	7	2770999	2770999	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr7:2770999G>T	ENST00000275364.3	-	4	1124	c.962C>A	c.(961-963)cCg>cAg	p.P321Q	GNA12_ENST00000544127.1_Missense_Mutation_p.P228Q|GNA12_ENST00000407653.1_Missense_Mutation_p.P245Q|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_Missense_Mutation_p.P262Q|GNA12_ENST00000396960.3_Missense_Mutation_p.P173Q|AMZ1_ENST00000489665.1_Intron	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	321					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CAGCCTGTGCGGGTCGCCCCT	0.582																																																0													106	90	95					7																	2770999		2203	4300	6503	SO:0001583	missense	2768			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.962C>A	7.37:g.2770999G>T	ENSP00000275364:p.Pro321Gln		A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015367	0.35511	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.93	3.18	0.36537	.	0.000000	0.85682	D	0.000000	D	0.91546	0.7330	M	0.67517	2.055	0.80722	D	1	P;D;P	0.71674	0.525;0.998;0.525	B;D;B	0.70487	0.143;0.969;0.143	D	0.87780	0.2611	10	0.25751	T	0.34	.	8.7782	0.34776	0.1283:0.0:0.7478:0.1239	.	321;321;262	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	Q	321;262;245;173;228	ENSP00000275364:P321Q;ENSP00000385935:P262Q;ENSP00000386054:P245Q;ENSP00000380160:P173Q;ENSP00000437469:P228Q	ENSP00000275364:P321Q	P	-	2	0	GNA12	2737525	1.000000	0.71417	0.779000	0.31741	0.258000	0.26162	9.742000	0.98846	0.426000	0.26116	-0.181000	0.13052	CCG		0.582	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		T	2770999	G	T	2770999	3	4	327	1	0	0	0	0	1	0	0	0	6502	1116	39	4	187	4	GNA12	7	2770999	Missense_Mutation	SNP	G	TCGA-BP-4177-01A-02D-1421-08		2770999	156367664	9	19169											
MYST3	7994	broad.mit.edu	37	8	41801275	41801275	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr8:41801275C>A	ENST00000396930.3	-	14	2762	c.2219G>T	c.(2218-2220)cGt>cTt	p.R740L	KAT6A_ENST00000265713.2_Missense_Mutation_p.R740L|KAT6A_ENST00000485568.1_Missense_Mutation_p.R740L|KAT6A_ENST00000406337.1_Missense_Mutation_p.R740L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	740	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTGGTCACTACGGAAGTCCAG	0.403																																																0													169	141	150					8																	41801275		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2219G>T	8.37:g.41801275C>A	ENSP00000380136:p.Arg740Leu		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956755	0.53293	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.84298	0.18;0.18;0.18;-1.83	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	L	0.55103	1.725	0.58432	D	0.999995	P;D	0.71674	0.895;0.998	P;D	0.68621	0.65;0.959	D	0.90265	0.4303	10	0.54805	T	0.06	-18.4344	20.1577	0.98120	0.0:1.0:0.0:0.0	.	740;740	A5PLL3;Q92794	.;KAT6A_HUMAN	L	740;740;740;320;740	ENSP00000265713:R740L;ENSP00000385888:R740L;ENSP00000380136:R740L;ENSP00000430606:R740L	ENSP00000265713:R740L	R	-	2	0	KAT6A	41920432	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	4.471000	0.60182	2.767000	0.95098	0.655000	0.94253	CGT		0.403	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		A	41801275	C	A	41801275	3	1	327	1	0	0	0	0	1	0	0	0	10106	536	19	4	3815	4	MYST3	8	41801275	Missense_Mutation	SNP	C	TCGA-BP-4177-01A-02D-1421-08		41801275	104562747	10	19170											
ASAH2	56624	broad.mit.edu	37	10	51974612	51974612	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr10:51974612G>C	ENST00000395526.4	-	8	1030	c.1031C>G	c.(1030-1032)gCc>gGc	p.A344G	ASAH2_ENST00000329428.6_Missense_Mutation_p.A325G|ASAH2_ENST00000447815.1_Missense_Mutation_p.A344G|ASAH2_ENST00000443575.1_Missense_Mutation_p.A186G	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	344					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						TGAAGCAAAGGCTGCTACAAA	0.433																																																0													95	72	80					10																	51974612		2202	4294	6496	SO:0001583	missense	56624			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.1031C>G	10.37:g.51974612G>C	ENSP00000378897:p.Ala344Gly		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108535	0.37242	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000443575;ENST00000329428	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.26	4.34	0.51931	.	0.112663	0.64402	N	0.000015	T	0.40015	0.1100	N	0.25380	0.74	0.34067	D	0.657984	B;B	0.22003	0.063;0.039	B;B	0.25140	0.054;0.058	T	0.47611	-0.9104	10	0.25106	T	0.35	.	13.2915	0.60274	0.0:0.1669:0.8331:0.0	.	344;344	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	G	344;344;186;325	ENSP00000378897:A344G;ENSP00000388206:A344G;ENSP00000392766:A186G;ENSP00000329886:A325G	ENSP00000329886:A325G	A	-	2	0	ASAH2	51644618	1.000000	0.71417	0.992000	0.48379	0.920000	0.55202	3.497000	0.53295	1.180000	0.42898	0.455000	0.32223	GCC		0.433	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		C	51974612	G	C	51974612	3	2	327	1	0	0	0	0	1	0	0	0	1007	1203	42	4	1363	4	ASAH2	10	51974612	Missense_Mutation	SNP	G	TCGA-BP-4177-01A-02D-1421-08		51974612	83560135	11	19171											
CATSPERB	79820	broad.mit.edu	37	14	92126293	92126293	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr14:92126293A>C	ENST00000256343.3	-	15	1476	c.1320T>G	c.(1318-1320)ttT>ttG	p.F440L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	440					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTATTAATTGAAAGGTGTTGC	0.353																																																0													79	80	79					14																	92126293		2203	4300	6503	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1320T>G	14.37:g.92126293A>C	ENSP00000256343:p.Phe440Leu		A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562959	0.27915	.	.	ENSG00000133962	ENST00000256343	T	0.68181	-0.31	4.76	2.33	0.28932	.	0.000000	0.53938	D	0.000045	T	0.74145	0.3678	L	0.58101	1.795	0.28412	N	0.918143	D	0.76494	0.999	D	0.83275	0.996	T	0.65841	-0.6070	10	0.72032	D	0.01	-25.2593	6.6907	0.23169	0.8029:0.0:0.1971:0.0	.	440	Q9H7T0	CTSRB_HUMAN	L	440	ENSP00000256343:F440L	ENSP00000256343:F440L	F	-	3	2	CATSPERB	91196046	0.182000	0.23173	0.285000	0.24819	0.225000	0.24961	0.360000	0.20250	0.254000	0.21573	0.454000	0.30748	TTT		0.353	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		C	92126293	A	C	92126293	3	2	327	1	0	0	0	0	1	0	0	0	2693	243	9	5	2082	5	CATSPERB	14	92126293	Missense_Mutation	SNP	A	TCGA-BP-4177-01A-02D-1421-08		92126293	15223247	12	19172											
CSK	1445	broad.mit.edu	37	15	75091169	75091169	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr15:75091169C>A	ENST00000220003.9	+	4	861	c.132C>A	c.(130-132)gaC>gaA	p.D44E	CSK_ENST00000309470.9_Missense_Mutation_p.D44E|CSK_ENST00000439220.2_Missense_Mutation_p.D44E|CSK_ENST00000567571.1_Missense_Mutation_p.D44E	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	44	Interaction with PTPN8. {ECO:0000250}.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						CTCCCCAGGACCCCAACTGGT	0.627																																																0													81	67	72					15																	75091169		2197	4296	6493	SO:0001583	missense	1445				CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.132C>A	15.37:g.75091169C>A	ENSP00000220003:p.Asp44Glu		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469567	0.63625	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.20881	2.04;2.04;2.04	4.07	3.15	0.36227	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.64080	1.96	0.54753	D	0.999985	D	0.63880	0.993	P	0.61874	0.895	T	0.44360	-0.9333	10	0.05525	T	0.97	-32.6206	7.0645	0.25143	0.0:0.6505:0.0:0.3495	.	44	P41240	CSK_HUMAN	E	44	ENSP00000220003:D44E;ENSP00000414764:D44E;ENSP00000438808:D44E	ENSP00000220003:D44E	D	+	3	2	CSK	72878222	0.999000	0.42202	1.000000	0.80357	0.826000	0.46750	0.572000	0.23684	0.938000	0.37419	0.313000	0.20887	GAC		0.627	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		A	75091169	C	A	75091169	3	1	327	1	0	0	0	0	1	0	0	0	3945	506	18	4	142	4	CSK	15	75091169	Missense_Mutation	SNP	C	TCGA-BP-4177-01A-02D-1421-08		75091169	27440223	13	19173											
CHD2	1106	broad.mit.edu	37	15	93524619	93524619	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr15:93524619C>T	ENST00000394196.4	+	24	4066	c.2998C>T	c.(2998-3000)Cgg>Tgg	p.R1000W	CHD2_ENST00000557381.1_Missense_Mutation_p.R1000W	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1000	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGAAATTTTGCGGTTGGCTGA	0.383																																																0													135	130	132					15																	93524619		2197	4298	6495	SO:0001583	missense	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2998C>T	15.37:g.93524619C>T	ENSP00000377747:p.Arg1000Trp		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225357	0.58668	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02606	4.23;4.23	4.87	3.95	0.45737	.	0.000000	0.33364	U	0.004984	T	0.15046	0.0363	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.74023	0.957;0.982	T	0.00950	-1.1503	10	0.87932	D	0	-14.7658	15.525	0.75898	0.0:0.8613:0.1387:0.0	.	1000;1000	O14647;O14647-2	CHD2_HUMAN;.	W	1000	ENSP00000377747:R1000W;ENSP00000451366:R1000W	ENSP00000377747:R1000W	R	+	1	2	CHD2	91325623	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	5.627000	0.67784	1.165000	0.42670	-0.165000	0.13383	CGG		0.383	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		T	93524619	C	T	93524619	3	4	327	1	0	0	0	0	1	0	0	0	3327	759	27	1	3092	1	CHD2	15	93524619	Missense_Mutation	SNP	C	TCGA-BP-4177-01A-02D-1421-08	18433450	93524619	9006773	14	19174											
TXNDC11	51061	broad.mit.edu	37	16	11829975	11829975	+	Silent	SNP	C	C	A			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr16:11829975C>A	ENST00000356957.3	-	2	476	c.369G>T	c.(367-369)cgG>cgT	p.R123R	TXNDC11_ENST00000283033.5_Silent_p.R123R			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	123	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTCTGAATCCCGTCGAACGT	0.522																																																0													159	120	133					16																	11829975		2197	4300	6497	SO:0001819	synonymous_variant	51061			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.369G>T	16.37:g.11829975C>A			O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37																																																																																					0.522	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		A	11829975	C	A	11829975	2	1	327	1	0	0	0	0	0	0	0	1	16797	610	22	4		4	TXNDC11	16	11829975	Silent	SNP	C	TCGA-BP-4177-01A-02D-1421-08		11829975	78524778	15	19175											
OTOA	146183	broad.mit.edu	37	16	21698935	21698935	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr16:21698935C>T	ENST00000286149.4	+	7	602	c.601C>T	c.(601-603)Cct>Tct	p.P201S	OTOA_ENST00000388956.4_Missense_Mutation_p.P122S|OTOA_ENST00000388958.3_Missense_Mutation_p.P201S			Q7RTW8	OTOAN_HUMAN	otoancorin	201					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGAGCGGCTCCCTCGGGACCT	0.532																																																0													40	38	39					16																	21698935		2199	4300	6499	SO:0001583	missense	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.601C>T	16.37:g.21698935C>T	ENSP00000286149:p.Pro201Ser		A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	C	14.44	2.535648	0.45176	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.12039	2.72;2.72;2.72	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000001	T	0.35422	0.0931	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.13019	-1.0525	10	0.66056	D	0.02	-17.2661	14.6995	0.69147	0.0:1.0:0.0:0.0	.	122;201	B3KWU3;E9PF51	.;.	S	201;201;122	ENSP00000373610:P201S;ENSP00000286149:P201S;ENSP00000373608:P122S	ENSP00000286149:P201S	P	+	1	0	OTOA	21606436	1.000000	0.71417	0.352000	0.25734	0.153000	0.21895	5.332000	0.65911	2.041000	0.60428	0.552000	0.68991	CCT		0.532	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			T	21698935	C	T	21698935	3	4	327	1	0	0	0	0	1	0	0	0	11304	623	22	2	661	2	OTOA	16	21698935	Missense_Mutation	SNP	C	TCGA-BP-4177-01A-02D-1421-08	9868960	21698935	68655818	16	19176											
OR1E1	8387	broad.mit.edu	37	17	3301331	3301331	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr17:3301331G>T	ENST00000322608.2	-	1	373	c.374C>A	c.(373-375)gCc>gAc	p.A125D		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	125					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)			endometrium(3)|large_intestine(2)|lung(5)	10						GAAGCAGATGGCCACATAGCG	0.572																																																0													104	82	90					17																	3301331		2203	4300	6503	SO:0001583	missense	8387			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"GPCR / Class A : Olfactory receptors"	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.374C>A	17.37:g.3301331G>T	ENSP00000313384:p.Ala125Asp		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666390	0.88251	.	.	ENSG00000180016	ENST00000322608	T	0.01234	5.13	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.19846	0.0477	H	0.99454	4.575	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.49072	-0.8977	10	0.87932	D	0	.	16.3395	0.83078	0.0:0.0:1.0:0.0	.	125	P30953	OR1E1_HUMAN	D	125	ENSP00000313384:A125D	ENSP00000313384:A125D	A	-	2	0	OR1E1	3248081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.298000	0.96132	2.449000	0.82847	0.591000	0.81541	GCC		0.572	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		T	3301331	G	T	3301331	3	4	327	1	0	0	0	0	1	0	0	0	10956	1203	42	4	574	4	OR1E1	17	3301331	Missense_Mutation	SNP	G	TCGA-BP-4177-01A-02D-1421-08		3301331	77893879	17	19177											
STRN4	29888	broad.mit.edu	37	19	47234130	47234130	+	Splice_Site	SNP	C	C	T	rs576731281	byFrequency	TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr19:47234130C>T	ENST00000263280.6	-	6	787	c.738G>A	c.(736-738)agG>agA	p.R246R	STRN4_ENST00000539396.1_Splice_Site_p.R127R|STRN4_ENST00000594357.2_5'Flank|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000391910.3_Splice_Site_p.R246R	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	246						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTGCCGCGTTCCTGCCAAAGA	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		21578	0.002		0.0	False		,,,				2504	0.0															0													115	94	101					19																	47234130		2203	4300	6503	SO:0001630	splice_region_variant	29888			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.738-1G>A	19.37:g.47234130C>T			A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Splice_Site	SNP	ENST00000263280.6	37	CCDS12690.1																																																																																				0.622	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2		Silent	T	47234130	C	T	47234130	5	4	327	1	0	0	0	0	0	0	1	0	15336	869	30	2	1592	2	STRN4	19	47234130	Splice_Site	SNP	C	TCGA-BP-4177-01A-02D-1421-08		47234130	11894853	18	19178											
CCDC114	93233	broad.mit.edu	37	19	48807247	48807247	+	Silent	SNP	C	C	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr19:48807247C>T	ENST00000315396.7	-	7	1387	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	235					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGGGATCCGGCTGCCGGTCGT	0.642																																																0													83	82	82					19																	48807247		2203	4300	6503	SO:0001819	synonymous_variant	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.705G>A	19.37:g.48807247C>T			Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	CCDS12714.2																																																																																				0.642	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		T	48807247	C	T	48807247	2	4	327	1	0	0	0	0	0	0	0	1	2753	796	28	2		2	CCDC114	19	48807247	Silent	SNP	C	TCGA-BP-4177-01A-02D-1421-08	1573117	48807247	10321736	19	19179											
KCNB1	3745	broad.mit.edu	37	20	47991026	47991026	+	Silent	SNP	G	G	A	rs199964916	byFrequency	TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr20:47991026G>A	ENST00000371741.4	-	2	1237	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	357					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.D357D(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	ACTTGGTGTCGTCCTCATCCT	0.517													g|||	2	0.000399361	0.0	0.0	5008	,	,		20382	0.002		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	prostate(1)											55	55	55					20																	47991026		2203	4300	6503	SO:0001819	synonymous_variant	3745			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1071C>T	20.37:g.47991026G>A			Q14193	Silent	SNP	ENST00000371741.4	37	CCDS13418.1																																																																																				0.517	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		A	47991026	G	A	47991026	2	1	327	1	0	0	0	0	0	0	0	1	8014	1136	40	1		1	KCNB1	20	47991026	Silent	SNP	G	TCGA-BP-4177-01A-02D-1421-08		47991026	15034494	20	19180											
C20orf177	63939	broad.mit.edu	37	20	58520018	58520018	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr20:58520018G>T	ENST00000358293.3	+	5	1435	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.K340N	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	340																	ATTCCTGTAAGGCCTCCAAAA	0.493																																																0													74	77	76					20																	58520018		2203	4300	6503	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1020G>T	20.37:g.58520018G>T	ENSP00000351040:p.Lys340Asn		B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681773	0.29872	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.38560	1.13;1.13	5.35	4.4	0.53042	.	0.830066	0.10487	N	0.668863	T	0.48978	0.1530	L	0.29908	0.895	0.09310	N	1	D	0.61080	0.989	P	0.59487	0.858	T	0.38112	-0.9676	10	0.62326	D	0.03	-7.097	11.2304	0.48910	0.2243:0.0:0.7757:0.0	.	340	Q9NTX9	CT177_HUMAN	N	340	ENSP00000351040:K340N;ENSP00000354056:K340N	ENSP00000351040:K340N	K	+	3	2	C20orf177	57953413	0.220000	0.23631	0.001000	0.08648	0.001000	0.01503	1.904000	0.39868	0.644000	0.30656	-1.094000	0.02160	AAG		0.493	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		T	58520018	G	T	58520018	3	4	327	1	0	0	0	0	1	0	0	0	2098	991	35	4	1022	4	C20orf177	20	58520018	Missense_Mutation	SNP	G	TCGA-BP-4177-01A-02D-1421-08	10528992	58520018	4505502	21	19181											
CABP7	164633	broad.mit.edu	37	22	30124615	30124621	+	Splice_Site	DEL	CCAGGTG	CCAGGTG	-			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr22:30124615_30124621delCCAGGTG	ENST00000216144.3	+	3	594_597	c.253_256delCCAGGTG	c.(253-258)ccaggt>gt	p.PG85fs		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			TGTGCCTCCACCAGGTGATGGTCAAGT	0.575																																																0																																										SO:0001630	splice_region_variant	164633			BC051805	CCDS13867.1	22q12.2	2013-01-10			ENSG00000100314	ENSG00000100314		"EF-hand domain containing"	20834	protein-coding gene	gene with protein product						11785943	Standard	NM_182527		Approved	MGC57793	uc003agl.3	Q86V35	OTTHUMG00000151282	ENST00000216144.3:c.254-1CCAGGTG>-	22.37:g.30124615_30124621delCCAGGTG				Splice_Site	DEL	ENST00000216144.3	37	CCDS13867.1																																																																																				0.575	CABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322080.1	NM_182527	Frame_Shift_Del	-	30124621	CCAGGTG	-	30124615	8	5	327	1	0	1	0	1	0	0	1	0	2537	522	18	0		0	CABP7	22	30124615	Splice_Site	DEL	CCAGGTG	TCGA-BP-4177-01A-02D-1421-08		30124615	21179951	22	19182											
HSPG2	3339	hgsc.bcm.edu	37	1	22213976	22213976	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr1:22213976G>A	ENST00000374695.3	-	8	974	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	299	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TAGTCTCTGGGGATGCAGTGC	0.697																																																0													76	87	83					1																	22213976		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.895C>T	1.37:g.22213976G>A	ENSP00000363827:p.Pro299Ser		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	9.177	1.022537	0.19433	.	.	ENSG00000142798	ENST00000374695	D	0.95554	-3.74	5.09	5.09	0.68999	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.188493	0.26062	N	0.026563	D	0.96555	0.8876	L	0.55213	1.73	0.41216	D	0.986472	D	0.69078	0.997	D	0.67725	0.953	D	0.96186	0.9134	9	.	.	.	.	15.9725	0.80031	0.0:0.0:1.0:0.0	.	299	P98160	PGBM_HUMAN	S	299	ENSP00000363827:P299S	.	P	-	1	0	HSPG2	22086563	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	1.955000	0.40372	2.384000	0.81235	0.462000	0.41574	CCC		0.697	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22213976	G	A	22213976	3	1	328	1	0	0	0	0	1	0	0	0	7432	1232	43	2	12640	2	HSPG2	1	22213976	Missense_Mutation	SNP	G	TCGA-BP-4326-01A-01D-1366-10		22213976	227036645	1	19183											
SLC27A3	11000	hgsc.bcm.edu	37	1	153750666	153750666	+	Silent	SNP	G	G	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr1:153750666G>T	ENST00000368661.3	+	5	1397	c.1332G>T	c.(1330-1332)cgG>cgT	p.R444R	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Silent_p.R525R	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	444					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATAAGGTCCGGCTGGCAGTGG	0.627																																																0													36	42	40					1																	153750666		2202	4300	6502	SO:0001819	synonymous_variant	11000			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1332G>T	1.37:g.153750666G>T			Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Silent	SNP	ENST00000368661.3	37	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341633	0.24339	.	.	ENSG00000143554	ENST00000458027	.	.	.	5.03	-2.07	0.07276	.	.	.	.	.	T	0.26340	0.0643	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30031	-0.9992	4	.	.	.	-30.0404	3.9143	0.09216	0.1428:0.344:0.3958:0.1175	.	.	.	.	V	149	.	.	G	+	2	0	SLC27A3	152017290	0.000000	0.05858	0.991000	0.47740	0.962000	0.63368	-1.345000	0.02637	-0.196000	0.10366	0.462000	0.41574	GGC		0.627	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		T	153750666	G	T	153750666	2	4	328	1	0	0	0	0	0	0	0	1	14533	1190	42	4		4	SLC27A3	1	153750666	Silent	SNP	G	TCGA-BP-4326-01A-01D-1366-10	131536690	153750666	95499955	2	19184											
SELE	6401	hgsc.bcm.edu	37	1	169701011	169701011	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr1:169701011C>A	ENST00000333360.7	-	4	633	c.494G>T	c.(493-495)tGt>tTt	p.C165F	SELE_ENST00000367777.1_Missense_Mutation_p.C165F|SELE_ENST00000367774.1_Missense_Mutation_p.C165F|SELE_ENST00000367775.1_Missense_Mutation_p.C165F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.C165F|SELE_ENST00000367779.4_Missense_Mutation_p.C165F|SELE_ENST00000367781.4_Missense_Mutation_p.C165F|SELE_ENST00000367780.4_Missense_Mutation_p.C165F|SELE_ENST00000367776.1_Missense_Mutation_p.C165F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	165	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GCCAGGGTCACACTTGCAAGT	0.473																																																0													153	122	132					1																	169701011		2203	4300	6503	SO:0001583	missense	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.494G>T	1.37:g.169701011C>A	ENSP00000331736:p.Cys165Phe		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097532	0.76870	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	D;D;D;D;D;D;D;D;D	0.99992	-12.4;-12.4;-12.4;-12.4;-12.4;-12.4;-12.4;-12.4;-12.4	5.5	5.5	0.81552	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.44097	D	0.000490	D	0.99994	0.9999	H	0.99956	5.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99997	1.5793	10	0.54805	T	0.06	-21.9506	16.9766	0.86315	0.0:1.0:0.0:0.0	.	165	P16581	LYAM2_HUMAN	F	165	ENSP00000356755:C165F;ENSP00000356756:C165F;ENSP00000356754:C165F;ENSP00000356753:C165F;ENSP00000331736:C165F;ENSP00000356751:C165F;ENSP00000356749:C165F;ENSP00000356750:C165F;ENSP00000356748:C165F	ENSP00000331736:C165F	C	-	2	0	SELE	167967635	1.000000	0.71417	0.288000	0.24862	0.809000	0.45718	7.040000	0.76551	2.601000	0.87937	0.586000	0.80456	TGT		0.473	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		A	169701011	C	A	169701011	3	1	328	1	0	0	0	0	1	0	0	0	14019	478	17	4	1378	4	SELE	1	169701011	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	15950345	169701011	79549610	3	19185											
SELE	6401	hgsc.bcm.edu;ucsc.edu	37	1	169701067	169701067	+	Silent	SNP	T	T	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr1:169701067T>C	ENST00000333360.7	-	4	577	c.438A>G	c.(436-438)acA>acG	p.T146T	SELE_ENST00000367777.1_Silent_p.T146T|SELE_ENST00000367774.1_Silent_p.T146T|SELE_ENST00000367775.1_Silent_p.T146T|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Silent_p.T146T|SELE_ENST00000367779.4_Silent_p.T146T|SELE_ENST00000367781.4_Silent_p.T146T|SELE_ENST00000367780.4_Silent_p.T146T|SELE_ENST00000367776.1_Silent_p.T146T	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	146	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	CACTGCAGGATGTATTGGTAC	0.438																																																0													117	99	105					1																	169701067		2203	4300	6503	SO:0001819	synonymous_variant	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.438A>G	1.37:g.169701067T>C			A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	CCDS1283.1																																																																																				0.438	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		C	169701067	T	C	169701067	2	2	328	1	0	0	0	0	0	0	0	1	14019	1451	51	3		3	SELE	1	169701067	Silent	SNP	T	TCGA-BP-4326-01A-01D-1366-10	56	169701067	79549554	4	19186											
TOR1AIP1	26092	hgsc.bcm.edu;ucsc.edu	37	1	179869288	179869288	+	Missense_Mutation	SNP	A	A	G	rs200495464		TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr1:179869288A>G	ENST00000606911.2	+	4	829	c.638A>G	c.(637-639)aAt>aGt	p.N213S	TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.N92S|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.N214S|RN7SL230P_ENST00000580835.1_RNA|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.N214S			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	213					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CAGAAGGTCAATTTCTCTGAA	0.279													A|||	1	0.000199681	0.0	0.0	5008	,	,		16602	0.001		0.0	False		,,,				2504	0.0															0													49	50	50					1																	179869288		2200	4297	6497	SO:0001583	missense	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.638A>G	1.37:g.179869288A>G	ENSP00000476687:p.Asn213Ser		A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	CCDS1335.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	1.506	-0.550850	0.03996	.	.	ENSG00000143337	ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319	T;T;T	0.20463	2.07;2.07;2.07	3.84	-2.98	0.05513	.	1.003600	0.08023	N	0.992297	T	0.11495	0.0280	L	0.31294	0.92	0.09310	N	1	B;B	0.16166	0.003;0.016	B;B	0.14578	0.008;0.011	T	0.35748	-0.9776	9	.	.	.	-2.2	2.9918	0.05986	0.3372:0.0:0.3277:0.3351	.	213;214	Q5JTV8;E9PKD1	TOIP1_HUMAN;.	S	214;213;214;213	ENSP00000435365:N214S;ENSP00000271583:N214S;ENSP00000393292:N213S	.	N	+	2	0	TOR1AIP1	178135911	0.137000	0.22531	0.004000	0.12327	0.163000	0.22366	0.387000	0.20718	-0.596000	0.05821	-0.301000	0.09380	AAT		0.279	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		G	179869288	A	G	179869288	3	3	328	1	0	0	0	0	1	0	0	0	16377	101	4	3	652	3	TOR1AIP1	1	179869288	Missense_Mutation	SNP	A	TCGA-BP-4326-01A-01D-1366-10	10168221	179869288	69381333	5	19187											
NR5A2	2494	hgsc.bcm.edu;ucsc.edu	37	1	200014705	200014705	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr1:200014705G>T	ENST00000367362.3	+	4	702	c.456G>T	c.(454-456)aaG>aaT	p.K152N	NR5A2_ENST00000544748.1_Missense_Mutation_p.K80N|NR5A2_ENST00000236914.3_Missense_Mutation_p.K106N	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	152					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TTGGAATGAAGCTAGAAGGTA	0.348																																					Melanoma(179;1138 2773 15678 26136)											0													80	81	81					1																	200014705		2203	4300	6503	SO:0001583	missense	2494			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.456G>T	1.37:g.200014705G>T	ENSP00000356331:p.Lys152Asn		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.01|18.01	3.527702|3.527702	0.64860|0.64860	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480|ENST00000367357	T;T;T|.	0.55930|.	0.49;0.49;0.49|.	5.5|5.5	3.59|3.59	0.41128|0.41128	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58864|0.58864	0.2152|0.2152	L|L	0.46614|0.46614	1.455|1.455	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.77004|.	0.981;0.989|.	T|T	0.56329|0.56329	-0.7997|-0.7997	9|5	.|.	.|.	.|.	.|.	12.3589|12.3589	0.55192|0.55192	0.1956:0.0:0.8044:0.0|0.1956:0.0:0.8044:0.0	.|.	106;152|.	F1D8R9;O00482|.	.;NR5A2_HUMAN|.	N|I	152;106;80;72|73	ENSP00000356331:K152N;ENSP00000236914:K106N;ENSP00000439116:K80N|.	.|.	K|S	+|+	3|2	2|0	NR5A2|NR5A2	198281328|198281328	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.467000|1.467000	0.35321|0.35321	1.455000|1.455000	0.47813|0.47813	0.655000|0.655000	0.94253|0.94253	AAG|AGC		0.348	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			T	200014705	G	T	200014705	3	4	328	1	0	0	0	0	1	0	0	0	10638	962	34	4	470	4	NR5A2	1	200014705	Missense_Mutation	SNP	G	TCGA-BP-4326-01A-01D-1366-10	20145417	200014705	49235916	6	19188											
ATP6V1C2	245973	hgsc.bcm.edu;ucsc.edu	37	2	10923347	10923347	+	Silent	SNP	T	T	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr2:10923347T>C	ENST00000272238.4	+	14	1351	c.1242T>C	c.(1240-1242)ttT>ttC	p.F414F	ATP6V1C2_ENST00000381661.3_Silent_p.F368F	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	414					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AAGACTATTTTCCTTATGTCT	0.423																																					NSCLC(188;1042 2136 10807 16813 47705)											0													180	163	169					2																	10923347		2203	4300	6503	SO:0001819	synonymous_variant	245973			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.1242T>C	2.37:g.10923347T>C			Q96EL8	Silent	SNP	ENST00000272238.4	37	CCDS42653.1																																																																																				0.423	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		C	10923347	T	C	10923347	2	2	328	1	0	0	0	0	0	0	0	1	1181	1780	62	3		3	ATP6V1C2	2	10923347	Silent	SNP	T	TCGA-BP-4326-01A-01D-1366-10		10923347	232276026	7	19189											
CAD	790	hgsc.bcm.edu;ucsc.edu	37	2	27449432	27449432	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr2:27449432T>C	ENST00000403525.1	+	13	2026	c.1882T>C	c.(1882-1884)Tct>Cct	p.S628P	CAD_ENST00000264705.4_Missense_Mutation_p.S691P			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTCGCAGCTCTGCCCTGGC	0.522																																																0													88	91	90					2																	27449432		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1882T>C	2.37:g.27449432T>C	ENSP00000384510:p.Ser628Pro		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	T	18.72	3.684113	0.68157	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97731	-4.51;-4.51	5.06	5.06	0.68205	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.058749	0.64402	N	0.000001	D	0.99336	0.9767	H	0.99650	4.68	0.80722	D	1	D;B	0.89917	1.0;0.035	D;B	0.97110	1.0;0.008	D	0.98145	1.0438	10	0.87932	D	0	-10.5088	12.227	0.54465	0.0:0.0:0.0:1.0	.	628;691	F8VPD4;P27708	.;PYR1_HUMAN	P	691;628	ENSP00000264705:S691P;ENSP00000384510:S628P	ENSP00000264705:S691P	S	+	1	0	CAD	27302936	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.628000	0.83189	1.911000	0.55334	0.397000	0.26171	TCT		0.522	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			C	27449432	T	C	27449432	3	2	328	1	0	0	0	0	1	0	0	0	2567	1551	54	3	2125	3	CAD	2	27449432	Missense_Mutation	SNP	T	TCGA-BP-4326-01A-01D-1366-10	16526085	27449432	215749941	8	19190											
TMEM131	23505	hgsc.bcm.edu;ucsc.edu	37	2	98373848	98373848	+	Splice_Site	SNP	T	T	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr2:98373848T>C	ENST00000186436.5	-	41	5596		c.e41-2			NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGGACCGACTGCGACAAAAC	0.587																																																0													104	104	104					2																	98373848		2091	4213	6304	SO:0001630	splice_region_variant	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5368-2A>G	2.37:g.98373848T>C				Splice_Site	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901113	0.72754	.	.	ENSG00000075568	ENST00000186436	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7287	0.77784	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM131	97740280	1.000000	0.71417	0.990000	0.47175	0.920000	0.55202	6.892000	0.75644	2.304000	0.77564	0.523000	0.50628	.		0.587	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	Intron	C	98373848	T	C	98373848	5	2	328	1	0	0	0	0	0	0	1	0	16049	1594	55	3	289	3	TMEM131	2	98373848	Splice_Site	SNP	T	TCGA-BP-4326-01A-01D-1366-10	70924416	98373848	144825525	9	19191											
RALB	5899	hgsc.bcm.edu	37	2	121036308	121036308	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr2:121036308G>C	ENST00000272519.5	+	2	338	c.68G>C	c.(67-69)gGa>gCa	p.G23A	RALB_ENST00000420510.1_Missense_Mutation_p.G23A|RALB_ENST00000470417.1_Intron|RALB_ENST00000404963.3_Missense_Mutation_p.G23A|RALB_ENST00000474855.2_Missense_Mutation_p.G45A	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	23					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G23V(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GTTGGCAGCGGAGGCGTTGGC	0.567																																																1	Substitution - Missense(1)	lung(1)											108	83	92					2																	121036308		2203	4300	6503	SO:0001583	missense	5899				CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"ras related GTP binding protein B"	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.68G>C	2.37:g.121036308G>C	ENSP00000272519:p.Gly23Ala		B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	g	34	5.327024	0.95708	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383;ENST00000449649	T;T;T;T;T;T;T	0.79749	-1.14;-1.14;-1.14;-1.14;-1.3;-1.14;-1.14	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	L	0.56280	1.765	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.99	D;P;D	0.65233	0.933;0.899;0.933	D	0.87858	0.2662	10	0.87932	D	0	.	20.2266	0.98341	0.0:0.0:1.0:0.0	.	45;23;23	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	A	45;45;23;23;23;23;23	ENSP00000402866:G45A;ENSP00000438764:G45A;ENSP00000272519:G23A;ENSP00000414224:G23A;ENSP00000384328:G23A;ENSP00000398162:G23A;ENSP00000407062:G23A	ENSP00000272519:G23A	G	+	2	0	RALB	120752778	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	9.620000	0.98373	2.792000	0.96026	0.586000	0.80456	GGA		0.567	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		C	121036308	G	C	121036308	3	2	328	1	0	0	0	0	1	0	0	0	13017	1174	41	4	70	4	RALB	2	121036308	Missense_Mutation	SNP	G	TCGA-BP-4326-01A-01D-1366-10	22662460	121036308	122163065	10	19192											
TTN	7273	hgsc.bcm.edu	37	2	179464025	179464025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr2:179464025C>T	ENST00000591111.1	-	240	51796	c.51572G>A	c.(51571-51573)tGg>tAg	p.W17191*	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W9959*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W18832*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W16264*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W9892*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W9767*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17191	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACATGGACCCATGTCTTCCT	0.408																																																0													140	130	133					2																	179464025		1898	4115	6013	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51572G>A	2.37:g.179464025C>T	ENSP00000465570:p.Trp17191*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	60	47.627058	0.99987	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3658	0.98878	0.0:1.0:0.0:0.0	.	.	.	.	X	16264;9767;9959;9892;9765	.	ENSP00000340554:W9959X	W	-	2	0	TTN	179172270	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.760000	0.85248	2.820000	0.97059	0.650000	0.86243	TGG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179464025	C	T	179464025	4	4	328	1	0	0	0	0	0	1	0	0	16740	595	21	2	51490	2	TTN	2	179464025	Nonsense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	58427717	179464025	63735348	11	19193											
NDUFS1	4719	ucsc.edu	37	2	207006752	207006758	+	Frame_Shift_Del	DEL	GCAATTG	GCAATTG	-			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	GCAATTG	GCAATTG	GCAATTG	-	GCAATTG	GCAATTG	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr2:207006752_207006758delGCAATTG	ENST00000233190.6	-	12	1435_1441	c.1169_1175delCAATTGC	c.(1168-1176)acaattgctfs	p.TIA390fs	NDUFS1_ENST00000457011.1_Frame_Shift_Del_p.TIA274fs|NDUFS1_ENST00000455934.2_Frame_Shift_Del_p.TIA404fs|NDUFS1_ENST00000432169.1_Frame_Shift_Del_p.TIA279fs|NDUFS1_ENST00000449699.1_Frame_Shift_Del_p.TIA390fs|NDUFS1_ENST00000440274.1_Frame_Shift_Del_p.TIA354fs|NDUFS1_ENST00000423725.1_Frame_Shift_Del_p.TIA333fs	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	390					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCCACACCAGCAATTGTAGTATTAAG	0.343																																																0																																										SO:0001589	frameshift_variant	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1169_1175delCAATTGC	2.37:g.207006752_207006758delGCAATTG	ENSP00000233190:p.Thr390fs		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Frame_Shift_Del	DEL	ENST00000233190.6	37	CCDS2366.1																																																																																				0.343	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		-	207006758	GCAATTG	-	207006752	7	5	328	1	0	1	0	1	0	0	0	0	10293	971	34	0	1040	0	NDUFS1	2	207006752	Frame_Shift_Del	DEL	GCAATTG	TCGA-BP-4326-01A-01D-1366-10	27542727	207006752	36192621	12	19194											
CCDC108	255101	hgsc.bcm.edu	37	2	219875351	219875351	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr2:219875351T>A	ENST00000341552.5	-	26	4308	c.4225A>T	c.(4225-4227)Atg>Ttg	p.M1409L	CCDC108_ENST00000453220.1_Missense_Mutation_p.M1409L|CCDC108_ENST00000441968.1_Missense_Mutation_p.M1409L|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1409						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCCCATCATATGGGGGTTG	0.592																																																0													73	57	62					2																	219875351		2202	4300	6502	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4225A>T	2.37:g.219875351T>A	ENSP00000340776:p.Met1409Leu		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	T	8.303	0.820419	0.16678	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.04603	3.59;3.59;3.59	5.05	-3.65	0.04502	.	1.341560	0.05196	N	0.504056	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47129	-0.9141	10	0.15499	T	0.54	-8.9879	13.2473	0.60029	0.0:0.4225:0.0:0.5775	.	1409	Q6ZU64	CC108_HUMAN	L	1409	ENSP00000340776:M1409L;ENSP00000413377:M1409L;ENSP00000409117:M1409L	ENSP00000340776:M1409L	M	-	1	0	CCDC108	219583595	0.000000	0.05858	0.001000	0.08648	0.607000	0.37147	-1.753000	0.01818	-0.674000	0.05253	-0.375000	0.07067	ATG		0.592	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		A	219875351	T	A	219875351	3	1	328	1	0	0	0	0	1	0	0	0	2745	1406	49	5	1592	5	CCDC108	2	219875351	Missense_Mutation	SNP	T	TCGA-BP-4326-01A-01D-1366-10	12868599	219875351	23324022	13	19195											
ROPN1	54763	hgsc.bcm.edu	37	3	123694287	123694287	+	Missense_Mutation	SNP	C	C	T	rs201837719		TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr3:123694287C>T	ENST00000184183.4	-	5	675	c.335G>A	c.(334-336)cGc>cAc	p.R112H	ROPN1_ENST00000405845.3_Missense_Mutation_p.R112H	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	112						cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		CTCCGTGAAGCGACCCACATT	0.493																																																0													9	10	9					3																	123694287		2099	4217	6316	SO:0001583	missense	54763			AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"cancer/testis antigen 91"	611757	"ropporin, rhophilin associated protein 1"			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.335G>A	3.37:g.123694287C>T	ENSP00000184183:p.Arg112His		D3DN99|Q9UF38	Missense_Mutation	SNP	ENST00000184183.4	37	CCDS3026.1	22	0.010073260073260074	2	0.0040650406504065045	5	0.013812154696132596	4	0.006993006993006993	11	0.014511873350923483	C	15.89	2.966945	0.53507	.	.	ENSG00000065371	ENST00000184183;ENST00000405845;ENST00000467907;ENST00000460743	T;T;T;T	0.31769	1.87;1.87;1.87;1.48	4.61	2.83	0.33086	.	0.146541	0.47455	N	0.000231	T	0.14874	0.0359	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.04103	-1.0977	10	0.44086	T	0.13	-21.1911	8.9829	0.35977	0.0:0.8232:0.0:0.1768	.	112	Q9HAT0	ROP1A_HUMAN	H	112	ENSP00000184183:R112H;ENSP00000385919:R112H;ENSP00000417067:R112H;ENSP00000420310:R112H	ENSP00000184183:R112H	R	-	2	0	ROPN1	125176977	0.938000	0.31826	1.000000	0.80357	0.724000	0.41520	-0.169000	0.09911	0.727000	0.32360	-0.147000	0.13772	CGC		0.493	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		T	123694287	C	T	123694287	3	4	328	1	0	0	0	0	1	0	0	0	13529	768	27	1	315	1	ROPN1	3	123694287	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10		123694287	74328143	14	19196											
WDFY3	23001	hgsc.bcm.edu;ucsc.edu	37	4	85724467	85724467	+	Silent	SNP	A	A	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr4:85724467A>T	ENST00000295888.4	-	16	2990	c.2583T>A	c.(2581-2583)tcT>tcA	p.S861S	WDFY3_ENST00000322366.6_Silent_p.S861S|WDFY3_ENST00000512267.1_5'UTR|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	861					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGACCCAACAGAGGCCAGTA	0.448																																																0													67	62	64					4																	85724467		2203	4300	6503	SO:0001819	synonymous_variant	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2583T>A	4.37:g.85724467A>T			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	CCDS3609.1																																																																																				0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		T	85724467	A	T	85724467	2	4	328	1	0	0	0	0	0	0	0	1	17275	175	7	5		5	WDFY3	4	85724467	Silent	SNP	A	TCGA-BP-4326-01A-01D-1366-10		85724467	105429809	15	19197											
SPINK9	643394	hgsc.bcm.edu;ucsc.edu	37	5	147718053	147718053	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr5:147718053C>T	ENST00000377906.1	+	3	155	c.100C>T	c.(100-102)Cat>Tat	p.H34Y	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Missense_Mutation_p.H55Y	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	34	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTGCAGTCATTATAAAAA	0.333																																																0													88	91	90					5																	147718053		2203	4299	6502	SO:0001583	missense	643394			AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"Serine peptidase inhibitors, Kazal type"	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.100C>T	5.37:g.147718053C>T	ENSP00000367139:p.His34Tyr		B2RPN9	Missense_Mutation	SNP	ENST00000377906.1	37	CCDS34269.1	.	.	.	.	.	.	.	.	.	.	C	5.666	0.307463	0.10733	.	.	ENSG00000204909	ENST00000511717;ENST00000377906	T;T	0.74737	-0.87;-0.87	4.1	-4.91	0.03085	Proteinase inhibitor I1, Kazal (2);	3.256310	0.00879	N	0.002102	T	0.61553	0.2356	.	.	.	0.09310	N	1	P	0.39282	0.666	B	0.32624	0.149	T	0.59789	-0.7388	9	0.59425	D	0.04	0.1167	8.7593	0.34665	0.295:0.5301:0.1749:0.0	.	34	Q5DT21	ISK9_HUMAN	Y	55;34	ENSP00000427240:H55Y;ENSP00000367139:H34Y	ENSP00000367139:H34Y	H	+	1	0	SPINK9	147698246	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.071000	0.01378	-1.676000	0.01457	-2.547000	0.00178	CAT		0.333	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1	NM_001040433		T	147718053	C	T	147718053	3	4	328	1	0	0	0	0	1	0	0	0	15071	826	29	2	110	2	SPINK9	5	147718053	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10		147718053	33197207	16	19198											
HRH2	3274	hgsc.bcm.edu;ucsc.edu	37	5	175111276	175111276	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr5:175111276G>T	ENST00000231683.2	+	1	2813	c.1040G>T	c.(1039-1041)gGg>gTg	p.G347V	HRH2_ENST00000377291.2_Missense_Mutation_p.G347V	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	347					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GTGTGGAGTGGGACAGAAGTC	0.577																																																0													76	85	82					5																	175111276		2203	4300	6503	SO:0001583	missense	3274				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.1040G>T	5.37:g.175111276G>T	ENSP00000231683:p.Gly347Val		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894078	0.52121	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.66995	-0.24;-0.14	4.83	3.97	0.46021	.	0.200843	0.30667	N	0.009130	T	0.70316	0.3210	L	0.32530	0.975	0.43994	D	0.996698	D;D	0.76494	0.986;0.999	P;D	0.69307	0.741;0.963	T	0.72320	-0.4329	10	0.72032	D	0.01	.	10.4335	0.44421	0.1625:0.0:0.8375:0.0	.	347;347	P25021;Q7Z5R9	HRH2_HUMAN;.	V	347	ENSP00000366506:G347V;ENSP00000231683:G347V	ENSP00000231683:G347V	G	+	2	0	HRH2	175043882	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	2.863000	0.48396	1.274000	0.44362	0.650000	0.86243	GGG		0.577	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			T	175111276	G	T	175111276	3	4	328	1	0	0	0	0	1	0	0	0	7358	1232	43	4	1042	4	HRH2	5	175111276	Missense_Mutation	SNP	G	TCGA-BP-4326-01A-01D-1366-10	27393223	175111276	5803984	17	19199											
SLC17A2	10246	hgsc.bcm.edu;ucsc.edu	37	6	25923943	25923943	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr6:25923943T>C	ENST00000265425.3	-	2	240	c.220A>G	c.(220-222)Atc>Gtc	p.I74V	SLC17A2_ENST00000360488.3_Missense_Mutation_p.I74V|SLC17A2_ENST00000377850.3_Missense_Mutation_p.I74V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	74					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AATTCCTTGATGGATATGCTG	0.433																																																0													167	167	167					6																	25923943		2203	4300	6503	SO:0001583	missense	10246			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.220A>G	6.37:g.25923943T>C	ENSP00000265425:p.Ile74Val		A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37		.	.	.	.	.	.	.	.	.	.	T	4.970	0.180238	0.09443	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.63096	-0.02;-0.02;-0.02	5.23	-0.114	0.13564	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.303190	0.00541	N	0.000227	T	0.15912	0.0383	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.05162	-1.0902	10	0.29301	T	0.29	.	3.1548	0.06500	0.2975:0.169:0.0:0.5335	.	74;74;74	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	V	74	ENSP00000353677:I74V;ENSP00000367081:I74V;ENSP00000265425:I74V	ENSP00000265425:I74V	I	-	1	0	SLC17A2	26031922	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.669000	0.05262	-0.085000	0.12573	0.528000	0.53228	ATC		0.433	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			C	25923943	T	C	25923943	3	2	328	1	0	0	0	0	1	0	0	0	14423	1464	51	3	1126	3	SLC17A2	6	25923943	Missense_Mutation	SNP	T	TCGA-BP-4326-01A-01D-1366-10		25923943	145191124	18	19200											
EPDR1	54749	hgsc.bcm.edu	37	7	37960275	37960275	+	5'UTR	SNP	C	C	A	rs201513905|rs62443108|rs76859517	byFrequency	TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr7:37960275C>A	ENST00000199448.4	+	0	113				EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000559325.1_Missense_Mutation_p.Q32K|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000423717.1_5'UTR	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)	p.A36fs*79(3)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GCAGTGGCAGCAGGCAGTGGC	0.637																																																3	Deletion - Frameshift(3)	urinary_tract(1)|ovary(1)|breast(1)											19	20	20					7																	37960275		2203	4300	6503	SO:0001623	5_prime_UTR_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-267C>A	7.37:g.37960275C>A			A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	CCDS5454.2	188	0.08608058608058608	8	0.016260162601626018	32	0.08839779005524862	36	0.06293706293706294	112	0.14775725593667546	C	7.882	0.730413	0.15507	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	.	.	.	.	.	.	.	.	T	0.00109	0.0003	N	0.08118	0	0.19300	N	0.999978	.	.	.	.	.	.	T	0.19976	-1.0289	4	0.54805	T	0.06	.	.	.	.	rs62443108	32	A4D1W8	.	K	32;6	.	ENSP00000199448:Q32K	Q	+	1	0	EPDR1	37926800	0.086000	0.21541	0.083000	0.20561	0.138000	0.21146	0.113000	0.15499	0.064000	0.16427	0.064000	0.15345	CAG		0.637	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		A	37960275	C	A	37960275	1	1	328	0	1	0	0	0	0	0	0	0	5165	711	25	4		4	EPDR1	7	37960275	5'UTR	SNP	C	TCGA-BP-4326-01A-01D-1366-10		37960275	121178388	19	19201											
INHBA	3624	hgsc.bcm.edu	37	7	41729840	41729840	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr7:41729840A>G	ENST00000242208.4	-	3	935	c.689T>C	c.(688-690)tTg>tCg	p.L230S	INHBA_ENST00000442711.1_Missense_Mutation_p.L230S|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	230					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTGGTCCAGCAACCGCTGGAT	0.557										TSP Lung(11;0.080)																																						0													51	50	50					7																	41729840		2203	4300	6503	SO:0001583	missense	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.689T>C	7.37:g.41729840A>G	ENSP00000242208:p.Leu230Ser		Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.964489	0.74131	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.63913	-0.07;-0.07	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.363079	0.24443	N	0.038492	T	0.78960	0.4366	M	0.71206	2.165	0.49213	D	0.999763	D	0.76494	0.999	D	0.76071	0.987	T	0.80795	-0.1223	10	0.87932	D	0	-14.5358	16.6093	0.84858	1.0:0.0:0.0:0.0	.	230	P08476	INHBA_HUMAN	S	230	ENSP00000242208:L230S;ENSP00000397197:L230S	ENSP00000242208:L230S	L	-	2	0	INHBA	41696365	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	6.183000	0.72002	2.324000	0.78689	0.533000	0.62120	TTG		0.557	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			G	41729840	A	G	41729840	3	3	328	1	0	0	0	0	1	0	0	0	7743	131	5	3	595	3	INHBA	7	41729840	Missense_Mutation	SNP	A	TCGA-BP-4326-01A-01D-1366-10	3769565	41729840	117408823	20	19202											
ZNF713	349075	hgsc.bcm.edu	37	7	55991394	55991394	+	Splice_Site	SNP	T	T	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr7:55991394T>A	ENST00000429591.2	+	3	306		c.e3+2		ZNF713_ENST00000482436.1_Splice_Site|MRPS17_ENST00000426595.1_Splice_Site	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCATCCAGGTAAGTGCACAC	0.473																																																0													79	66	70					7																	55991394		2203	4300	6503	SO:0001630	splice_region_variant	349075			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.268+2T>A	7.37:g.55991394T>A				Splice_Site	SNP	ENST00000429591.2	37	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	T	9.184	1.024398	0.19433	.	.	ENSG00000249773;ENSG00000178665	ENST00000426595;ENST00000429591	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1523	0.36971	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP11-15K19.2;ZNF713	55958888	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	2.894000	0.48640	1.927000	0.55829	0.533000	0.62120	.		0.473	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633	Intron	A	55991394	T	A	55991394	5	1	328	1	0	0	0	0	0	0	1	0	18122	1652	57	5	280	5	ZNF713	7	55991394	Splice_Site	SNP	T	TCGA-BP-4326-01A-01D-1366-10	14261554	55991394	103147269	21	19203											
ZNF92	168374	hgsc.bcm.edu;ucsc.edu	37	7	64852852	64852852	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr7:64852852C>G	ENST00000328747.7	+	2	240	c.41C>G	c.(40-42)tCt>tGt	p.S14C	ZNF92_ENST00000450302.2_Intron|ZNF92_ENST00000431504.1_Intron|ZNF92_ENST00000357512.2_Missense_Mutation_p.S14C	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATAGAATTCTCTCTAGAGGAA	0.423																																																0													108	111	110					7																	64852852		2203	4300	6503	SO:0001583	missense	168374			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.41C>G	7.37:g.64852852C>G	ENSP00000332595:p.Ser14Cys		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	ENST00000328747.7	37	CCDS34646.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978732	0.34942	.	.	ENSG00000146757	ENST00000328747;ENST00000357512	T;T	0.02944	4.1;4.1	0.603	0.603	0.17541	Krueppel-associated box (4);	.	.	.	.	T	0.16385	0.0394	H	0.97829	4.085	0.09310	N	1	B;P	0.40909	0.34;0.732	P;P	0.49953	0.627;0.624	T	0.02837	-1.1104	8	0.62326	D	0.03	.	.	.	.	.	14;14	Q03936-3;Q03936	.;ZNF92_HUMAN	C	14	ENSP00000332595:S14C;ENSP00000350113:S14C	ENSP00000332595:S14C	S	+	2	0	ZNF92	64490287	0.060000	0.20803	0.216000	0.23742	0.209000	0.24338	1.732000	0.38146	0.585000	0.29608	0.591000	0.81541	TCT		0.423	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		G	64852852	C	G	64852852	3	3	328	1	0	0	0	0	1	0	0	0	18206	913	32	4	47	4	ZNF92	7	64852852	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	8861458	64852852	94285811	22	19204											
SLC7A13	157724	hgsc.bcm.edu	37	8	87229702	87229702	+	Silent	SNP	A	A	G	rs4546639	byFrequency	TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr8:87229702A>G	ENST00000297524.3	-	3	1279	c.1176T>C	c.(1174-1176)taT>taC	p.Y392Y	SLC7A13_ENST00000419776.2_Silent_p.Y383Y|SLC7A13_ENST00000520624.1_5'Flank	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	392						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTTTACCTTATAAGGTATAG	0.289													A|||	1014	0.202476	0.0688	0.1974	5008	,	,		17572	0.3383		0.1372	False		,,,				2504	0.3139															0								A		394,3954		20,354,1800	21	23	22		1176	5	1	8	dbSNP_111	22	1098,7456		81,936,3260	no	coding-synonymous	SLC7A13	NM_138817.2		101,1290,5060	GG,GA,AA		12.8361,9.0616,11.5641		392/471	87229702	1492,11410	2174	4277	6451	SO:0001819	synonymous_variant	157724			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1176T>C	8.37:g.87229702A>G			Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	CCDS34917.1																																																																																				0.289	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		G	87229702	A	G	87229702	2	3	328	1	0	0	0	0	0	0	0	1	14701	456	16	3		3	SLC7A13	8	87229702	Silent	SNP	A	TCGA-BP-4326-01A-01D-1366-10		87229702	59134320	23	19205											
PKHD1L1	93035	hgsc.bcm.edu	37	8	110530539	110530539	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr8:110530539T>C	ENST00000378402.5	+	73	11937	c.11833T>C	c.(11833-11835)Tct>Cct	p.S3945P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3945					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTCCAATTATCTGTTGCAAC	0.353										HNSCC(38;0.096)																																						0													135	132	133					8																	110530539		1842	4088	5930	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11833T>C	8.37:g.110530539T>C	ENSP00000367655:p.Ser3945Pro		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	7.451	0.642625	0.14451	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.83755	-1.76;-1.59	5.75	5.75	0.90469	.	0.000000	0.85682	N	0.000000	T	0.42381	0.1200	N	0.00031	-2.6	0.28777	N	0.900026	B	0.02656	0.0	B	0.01281	0.0	T	0.48198	-0.9056	10	0.02654	T	1	.	12.8354	0.57770	0.0:0.9208:0.0:0.0792	.	3945	Q86WI1	PKHL1_HUMAN	P	3945;873	ENSP00000367655:S3945P;ENSP00000437376:S873P	ENSP00000367655:S3945P	S	+	1	0	PKHD1L1	110599715	1.000000	0.71417	0.992000	0.48379	0.767000	0.43475	5.019000	0.64060	1.440000	0.47531	-0.119000	0.15052	TCT		0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110530539	T	C	110530539	3	2	328	1	0	0	0	0	1	0	0	0	11974	1435	50	3	12123	3	PKHD1L1	8	110530539	Missense_Mutation	SNP	T	TCGA-BP-4326-01A-01D-1366-10	23300837	110530539	35833483	24	19206											
ASAP1	50807	hgsc.bcm.edu;ucsc.edu	37	8	131130417	131130417	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr8:131130417C>A	ENST00000518721.1	-	20	2097	c.1870G>T	c.(1870-1872)Gta>Tta	p.V624L	ASAP1_ENST00000357668.1_Missense_Mutation_p.V624L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	624					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGTTTTGTACAAGGAAGTCA	0.418																																																0													73	72	72					8																	131130417		2203	4300	6503	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1870G>T	8.37:g.131130417C>A	ENSP00000429900:p.Val624Leu		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698249|3.698249	0.68386|0.68386	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.58652	.|0.32;0.32	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Ankyrin repeat-containing domain (4);	.|0.131736	.|0.51477	.|D	.|0.000091	T|T	0.34048|0.34048	0.0884|0.0884	N|N	0.01464|0.01464	-0.85|-0.85	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.37038	.|0.579;0.579;0.524	.|B;B;B	.|0.35312	.|0.2;0.2;0.081	T|T	0.51934|0.51934	-0.8642|-0.8642	5|10	.|0.72032	.|D	.|0.01	.|.	18.2004|18.2004	0.89836|0.89836	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|624;624;627	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	F|L	444;37|627;624;624	.|ENSP00000350297:V624L;ENSP00000429900:V624L	.|ENSP00000344591:V627L	C|V	-|-	2|1	0|0	ASAP1|ASAP1	131199599|131199599	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.799000|0.799000	0.45148|0.45148	5.733000|5.733000	0.68571|0.68571	2.635000|2.635000	0.89317|0.89317	0.650000|0.650000	0.86243|0.86243	TGT|GTA		0.418	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		A	131130417	C	A	131130417	3	1	328	1	0	0	0	0	1	0	0	0	1010	478	17	4	1563	4	ASAP1	8	131130417	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	20599878	131130417	15233605	25	19207											
PTP4A3	11156	hgsc.bcm.edu;ucsc.edu	37	8	142437880	142437880	+	Silent	SNP	T	T	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr8:142437880T>C	ENST00000521578.1	+	5	1305	c.360T>C	c.(358-360)atT>atC	p.I120I	PTP4A3_ENST00000520105.1_Intron|PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000329397.1_Silent_p.I120I|PTP4A3_ENST00000349124.1_Intron			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	120	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGGCCCTTATTGAGAGCGGGA	0.682																																																0													47	37	40					8																	142437880		2130	4191	6321	SO:0001819	synonymous_variant	11156			AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.360T>C	8.37:g.142437880T>C			Q8IVN5|Q99849|Q9BTW5	Silent	SNP	ENST00000521578.1	37	CCDS6383.1																																																																																				0.682	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		C	142437880	T	C	142437880	2	2	328	1	0	0	0	0	0	0	0	1	12778	1800	63	3		3	PTP4A3	8	142437880	Silent	SNP	T	TCGA-BP-4326-01A-01D-1366-10	11307463	142437880	3926142	26	19208											
TRPM6	140803	hgsc.bcm.edu	37	9	77436728	77436728	+	Silent	SNP	C	C	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr9:77436728C>A	ENST00000360774.1	-	8	1104	c.867G>T	c.(865-867)gtG>gtT	p.V289V	TRPM6_ENST00000376872.3_Silent_p.V289V|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Silent_p.V284V|TRPM6_ENST00000449912.2_Silent_p.V284V|TRPM6_ENST00000451710.3_Silent_p.V289V|TRPM6_ENST00000376871.3_Silent_p.V289V|TRPM6_ENST00000376864.4_Silent_p.V289V	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	289					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCACCAGCCCCACGACCGGCA	0.577																																																0													132	95	108					9																	77436728		2203	4300	6503	SO:0001819	synonymous_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.867G>T	9.37:g.77436728C>A			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																				0.577	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		A	77436728	C	A	77436728	2	1	328	1	0	0	0	0	0	0	0	1	16595	581	21	4		4	TRPM6	9	77436728	Silent	SNP	C	TCGA-BP-4326-01A-01D-1366-10		77436728	63776703	27	19209											
ARHGAP21	57584	hgsc.bcm.edu;ucsc.edu	37	10	24886905	24886905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr10:24886905G>A	ENST00000396432.2	-	15	3652	c.3166C>T	c.(3166-3168)Cga>Tga	p.R1056*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R843*|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1055	Interaction with ARF1 and ARF6.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.R1055*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTATTCTTCGACTAATTAGA	0.338																																																1	Substitution - Nonsense(1)	lung(1)											180	170	173					10																	24886905		2203	4300	6503	SO:0001587	stop_gained	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3166C>T	10.37:g.24886905G>A	ENSP00000379709:p.Arg1056*		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	45	11.298239	0.99543	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	.	.	.	5.87	5.87	0.94306	.	0.172159	0.48286	D	0.000186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	.	.	.	X	1056;843;1046;1056;891	.	ENSP00000365604:R843X	R	-	1	2	ARHGAP21	24926911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.697000	0.54764	2.941000	0.99782	0.655000	0.94253	CGA		0.338	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		A	24886905	G	A	24886905	4	1	328	1	0	0	0	0	0	1	0	0	871	1066	37	1	2758	1	ARHGAP21	10	24886905	Nonsense_Mutation	SNP	G	TCGA-BP-4326-01A-01D-1366-10		24886905	110647842	28	19210											
PTEN	5728	hgsc.bcm.edu;ucsc.edu	37	10	89653858	89653860	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	TGT	TGT	TGT	-	TGT	TGT	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr10:89653858_89653860delTGT	ENST00000371953.3	+	2	1513_1515	c.156_158delTGT	c.(154-159)gatgta>gaa	p.52_53DV>E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	52	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.D52del(2)|p.V53G(1)|p.V53del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATATTGATGATGTAGTAAGGTAA	0.296		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	51	Whole gene deletion(37)|Unknown(8)|Deletion - In frame(3)|Deletion - Frameshift(2)|Substitution - Missense(1)	prostate(14)|central_nervous_system(9)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|endometrium(2)|breast(2)|kidney(2)|soft_tissue(1)|urinary_tract(1)|NS(1)	GRCh37	CD982912|CI972689	PTEN	D|I																																				SO:0001651	inframe_deletion	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.156_158delTGT	10.37:g.89653858_89653860delTGT	ENSP00000361021:p.Asp52_Val53delinsGlu		B2R904|F2YHV0|O00633|O02679|Q6ICT7	In_Frame_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.296	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89653860	TGT	-	89653858	7	5	328	1	0	1	0	1	0	0	0	0	12743	1461	51	0	162	0	PTEN	10	89653858	In_Frame_Del	DEL	TGT	TCGA-BP-4326-01A-01D-1366-10	64766953	89653858	45880889	29	19211	154	2									
PTEN	5728	hgsc.bcm.edu;ucsc.edu	37	10	89653859	89653861	+	In_Frame_Del	DEL	GTA	GTA	-	rs189583426		TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	GTA	GTA	GTA	-	GTA	GTA	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr10:89653859_89653861delGTA	ENST00000371953.3	+	2	1514_1516	c.157_159delGTA	c.(157-159)gtadel	p.V54del		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	54	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.V53G(1)|p.V53del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTGATGATGTAGTAAGGTAAG	0.3		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	49	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)|Substitution - Missense(1)|Deletion - In frame(1)	prostate(14)|central_nervous_system(9)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|kidney(2)|soft_tissue(1)|urinary_tract(1)|NS(1)	GRCh37	CD982912|CI972689|CI983200	PTEN	D|I	rs189583426																																			SO:0001651	inframe_deletion	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.157_159delGTA	10.37:g.89653862_89653864delGTA	ENSP00000361021:p.Val54del		B2R904|F2YHV0|O00633|O02679|Q6ICT7	In_Frame_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.3	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89653861	GTA	-	89653859	7	5	328	1	0	1	0	1	0	0	0	0	12743	1377	48	0	163	0	PTEN	10	89653859	In_Frame_Del	DEL	GTA	TCGA-BP-4326-01A-01D-1366-10	1	89653859	45880888	30	19212	154	2									
ANO2	57101	hgsc.bcm.edu;ucsc.edu	37	12	5744453	5744453	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr12:5744453C>T	ENST00000356134.5	-	18	1755	c.1684G>A	c.(1684-1686)Gct>Act	p.A562T	ANO2_ENST00000538154.1_5'Flank|ANO2_ENST00000327087.8_Missense_Mutation_p.A561T|ANO2_ENST00000546188.1_Missense_Mutation_p.A562T	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	566					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.A562T(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGAGACAGAGCGGCTGCAGTT	0.493																																																1	Substitution - Missense(1)	large_intestine(1)											102	101	101					12																	5744453		2041	4191	6232	SO:0001583	missense	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1684G>A	12.37:g.5744453C>T	ENSP00000348453:p.Ala562Thr		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	C	34	5.298869	0.95574	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.26	5.26	0.73747	.	0.176574	0.50627	D	0.000103	T	0.68201	0.2975	L	0.45352	1.415	0.80722	D	1	D	0.67145	0.996	P	0.57468	0.821	T	0.62329	-0.6877	10	0.24483	T	0.36	.	18.1054	0.89518	0.0:1.0:0.0:0.0	.	561	Q9NQ90-3	.	T	561;562;562;566;121	ENSP00000314048:A561T;ENSP00000348453:A562T;ENSP00000440981:A562T;ENSP00000443813:A121T	ENSP00000314048:A561T	A	-	1	0	ANO2	5614714	0.699000	0.27786	0.999000	0.59377	0.966000	0.64601	1.203000	0.32284	2.754000	0.94517	0.545000	0.68477	GCT		0.493	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		T	5744453	C	T	5744453	3	4	328	1	0	0	0	0	1	0	0	0	697	768	27	1	1355	1	ANO2	12	5744453	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10		5744453	128107442	31	19213											
C1RL	51279	hgsc.bcm.edu	37	12	7249550	7249550	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr12:7249550C>A	ENST00000266542.4	-	6	993	c.901G>T	c.(901-903)Gtg>Ttg	p.V301L	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	301	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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						CCCAAGAACACATTCACACTC	0.577																																																0													194	146	162					12																	7249550		2203	4300	6503	SO:0001583	missense	51279			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.901G>T	12.37:g.7249550C>A	ENSP00000266542:p.Val301Leu		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	CCDS8573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.26|17.26	3.343677|3.343677	0.61073|0.61073	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661	.|T	.|0.56776	.|0.44	4.98|4.98	4.98|4.98	0.66077|0.66077	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.091789	.|0.46145	.|D	.|0.000317	T|T	0.68293|0.68293	0.2985|0.2985	M|M	0.81239|0.81239	2.535|2.535	0.80722|0.80722	D|D	1|1	.|P	.|0.51057	.|0.941	.|P	.|0.60345	.|0.873	T|T	0.68530|0.68530	-0.5384|-0.5384	5|10	.|0.40728	.|T	.|0.16	.|.	11.343|11.343	0.49543|0.49543	0.0:0.9125:0.0:0.0875|0.0:0.9125:0.0:0.0875	.|.	.|301	.|Q9NZP8	.|C1RL_HUMAN	F|L	133|301	.|ENSP00000266542:V301L	.|ENSP00000266542:V301L	C|V	-|-	2|1	0|0	C1RL|C1RL	7140692|7140692	0.975000|0.975000	0.34042|0.34042	0.947000|0.947000	0.38551|0.38551	0.365000|0.365000	0.29674|0.29674	2.823000|2.823000	0.48081|0.48081	2.595000|2.595000	0.87683|0.87683	0.511000|0.511000	0.50034|0.50034	TGT|GTG		0.577	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		A	7249550	C	A	7249550	3	1	328	1	0	0	0	0	1	0	0	0	1975	478	17	4	566	4	C1RL	12	7249550	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	1505097	7249550	126602345	32	19214											
PFKM	5213	hgsc.bcm.edu;ucsc.edu	37	12	48526705	48526705	+	Nonsense_Mutation	SNP	C	C	T	rs138893744		TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr12:48526705C>T	ENST00000312352.7	+	5	331	c.292C>T	c.(292-294)Cga>Tga	p.R98*	PFKM_ENST00000340802.6_Nonsense_Mutation_p.R169*|PFKM_ENST00000395233.2_Nonsense_Mutation_p.R98*|PFKM_ENST00000359794.5_Nonsense_Mutation_p.R98*|PFKM_ENST00000547587.1_Nonsense_Mutation_p.R98*|PFKM_ENST00000551804.1_Nonsense_Mutation_p.R98*	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	98	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ACGAGAAGGACGACTCCGAGC	0.572																																																0								C	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	100	83	89		292,505,292,292	2.5	1	12	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained,stop-gained,stop-gained	PFKM	NM_000289.5,NM_001166686.1,NM_001166687.1,NM_001166688.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	98/781,169/852,98/781,98/781	48526705	1,13005	2203	4300	6503	SO:0001587	stop_gained	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.292C>T	12.37:g.48526705C>T	ENSP00000309438:p.Arg98*		J3KNX3|Q16814|Q16815|Q6ZTT1	Nonsense_Mutation	SNP	ENST00000312352.7	37	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624029	0.87560	0.0	1.16E-4	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000549941;ENST00000340802;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352	.	.	.	4.54	2.51	0.30379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3059	12.4557	0.55702	0.3574:0.6426:0.0:0.0	.	.	.	.	X	98;98;131;169;98;98;98;98;98;98;98;98	.	ENSP00000309438:R98X	R	+	1	2	PFKM	46812972	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	3.079000	0.50104	0.667000	0.31107	0.555000	0.69702	CGA		0.572	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		T	48526705	C	T	48526705	4	4	328	1	0	0	0	0	0	1	0	0	11767	528	19	1	527	1	PFKM	12	48526705	Nonsense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	41277155	48526705	85325190	33	19215											
KRT77	374454	hgsc.bcm.edu	37	12	53086577	53086577	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr12:53086577G>T	ENST00000341809.3	-	6	1196	c.1168C>A	c.(1168-1170)Cag>Aag	p.Q390K	KRT77_ENST00000537195.1_Missense_Mutation_p.Q157K|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	390	Coil 2.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGCAGCCTCTGGACGGTGCGG	0.592																																																0													182	131	148					12																	53086577		2202	4272	6474	SO:0001583	missense	374454			BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"-", "Intermediate filaments type II, keratins (basic)"	20411	protein-coding gene	gene with protein product		611158	"keratin 1B"	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1168C>A	12.37:g.53086577G>T	ENSP00000342710:p.Gln390Lys		Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.197006	0.58126	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.90900	-2.75;-2.75	3.44	0.493	0.16878	Filament (1);	.	.	.	.	D	0.92977	0.7765	M	0.90759	3.145	0.20489	N	0.999895	P	0.49696	0.927	P	0.51777	0.679	D	0.85359	0.1106	9	0.87932	D	0	.	5.9768	0.19385	0.1712:0.0:0.676:0.1528	.	390	Q7Z794	K2C1B_HUMAN	K	390;157	ENSP00000342710:Q390K;ENSP00000440803:Q157K	ENSP00000342710:Q390K	Q	-	1	0	KRT77	51372844	1.000000	0.71417	0.193000	0.23327	0.243000	0.25628	2.164000	0.42387	0.103000	0.17682	0.456000	0.33151	CAG		0.592	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		T	53086577	G	T	53086577	3	4	328	1	0	0	0	0	1	0	0	0	8492	1357	47	4	584	4	KRT77	12	53086577	Missense_Mutation	SNP	G	TCGA-BP-4326-01A-01D-1366-10	4559872	53086577	80765318	34	19216											
DHX37	57647	hgsc.bcm.edu;ucsc.edu	37	12	125435249	125435249	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr12:125435249C>G	ENST00000308736.2	-	22	3068	c.2970G>C	c.(2968-2970)aaG>aaC	p.K990N	DHX37_ENST00000544745.1_Missense_Mutation_p.K777N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	990							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCATGTACATCTTAGTGGTCT	0.607																																																0													67	68	68					12																	125435249		2203	4300	6503	SO:0001583	missense	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2970G>C	12.37:g.125435249C>G	ENSP00000311135:p.Lys990Asn		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300107	0.60195	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.04234	3.73;3.67	5.26	4.37	0.52481	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	M	0.90977	3.165	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01613	-1.1312	10	0.87932	D	0	-14.958	8.4808	0.33040	0.0:0.7103:0.0:0.2897	.	777;990	F5H3Y4;Q8IY37	.;DHX37_HUMAN	N	990;777	ENSP00000311135:K990N;ENSP00000439009:K777N	ENSP00000311135:K990N	K	-	3	2	DHX37	124001202	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	0.828000	0.27435	1.218000	0.43458	0.561000	0.74099	AAG		0.607	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		G	125435249	C	G	125435249	3	3	328	1	0	0	0	0	1	0	0	0	4512	912	32	4	527	4	DHX37	12	125435249	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	72348672	125435249	8416646	35	19217											
LATS2	26524	hgsc.bcm.edu;ucsc.edu	37	13	21557669	21557669	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr13:21557669C>T	ENST00000382592.4	-	5	2581	c.2176G>A	c.(2176-2178)Gag>Aag	p.E726K	LATS2_ENST00000542899.1_Missense_Mutation_p.E726K	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ACCACCCACTCATTGTCTGCC	0.542																																																0													169	162	164					13																	21557669		2203	4300	6503	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2176G>A	13.37:g.21557669C>T	ENSP00000372035:p.Glu726Lys			Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372392	0.82573	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.07688	3.17;3.17	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.18467	0.0443	N	0.21240	0.645	0.80722	D	1	D	0.64830	0.994	D	0.71870	0.975	T	0.02075	-1.1218	10	0.59425	D	0.04	.	18.9571	0.92662	0.0:1.0:0.0:0.0	.	726	Q9NRM7	LATS2_HUMAN	K	726	ENSP00000372035:E726K;ENSP00000441817:E726K	ENSP00000372035:E726K	E	-	1	0	LATS2	20455669	1.000000	0.71417	0.981000	0.43875	0.900000	0.52787	5.796000	0.69080	2.709000	0.92574	0.555000	0.69702	GAG		0.542	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			T	21557669	C	T	21557669	3	4	328	1	0	0	0	0	1	0	0	0	8649	835	29	2	1106	2	LATS2	13	21557669	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10		21557669	93612209	36	19218											
SLITRK1	114798	hgsc.bcm.edu;ucsc.edu	37	13	84453865	84453865	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr13:84453865C>A	ENST00000377084.2	-	1	2663	c.1778G>T	c.(1777-1779)aGt>aTt	p.S593I		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	593					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)		GCTGTTTTTACTGTGCGAAGT	0.557																																																0													97	86	90					13																	84453865		2203	4300	6503	SO:0001583	missense	114798			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.1778G>T	13.37:g.84453865C>A	ENSP00000366288:p.Ser593Ile		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	9.033	0.987886	0.18966	.	.	ENSG00000178235	ENST00000377084	T	0.58652	0.32	5.41	5.41	0.78517	.	0.219666	0.49916	D	0.000133	T	0.52629	0.1746	M	0.74881	2.28	0.34518	D	0.707831	B	0.29508	0.246	B	0.22601	0.04	T	0.61734	-0.7002	10	0.33141	T	0.24	-9.5847	8.7559	0.34645	0.0:0.8392:0.0:0.1608	.	593	Q96PX8	SLIK1_HUMAN	I	593	ENSP00000366288:S593I	ENSP00000366288:S593I	S	-	2	0	SLITRK1	83351866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.440000	0.35024	2.709000	0.92574	0.655000	0.94253	AGT		0.557	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		A	84453865	C	A	84453865	3	1	328	1	0	0	0	0	1	0	0	0	14748	565	20	4	316	4	SLITRK1	13	84453865	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	62896196	84453865	30716013	37	19219											
IL25	64806	hgsc.bcm.edu	37	14	23844833	23844833	+	Splice_Site	SNP	G	G	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr14:23844833G>A	ENST00000329715.2	+	2	536		c.e2-1		IL25_ENST00000397242.2_Splice_Site|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25						eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)	p.?(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CGCCCCCACAGGTTGGACAGA	0.637																																																1	Unknown(1)	ovary(1)											106	110	109					14																	23844833		2203	4300	6503	SO:0001630	splice_region_variant	64806			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	13765	protein-coding gene	gene with protein product		605658	"interleukin 17E"	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.279-1G>A	14.37:g.23844833G>A			Q2M3F0|Q8IZV3|Q8WXB0	Splice_Site	SNP	ENST00000329715.2	37	CCDS9597.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576708	0.65878	.	.	ENSG00000166090	ENST00000397242;ENST00000329715	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7287	0.57185	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL25	22914673	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.629000	0.61290	2.378000	0.81104	0.491000	0.48974	.		0.637	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2		Intron	A	23844833	G	A	23844833	5	1	328	1	0	0	0	0	0	0	1	0	7680	1014	35	2	297	2	IL25	14	23844833	Splice_Site	SNP	G	TCGA-BP-4326-01A-01D-1366-10		23844833	83504707	38	19220											
COCH	1690	hgsc.bcm.edu;ucsc.edu	37	14	31348659	31348659	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr14:31348659G>A	ENST00000396618.3	+	6	460	c.404G>A	c.(403-405)gGa>gAa	p.G135E	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_5'Flank|COCH_ENST00000475087.1_Missense_Mutation_p.G135E|COCH_ENST00000216361.4_Missense_Mutation_p.G135E|COCH_ENST00000460581.2_Missense_Mutation_p.G23E	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	135			G -> R (in dbSNP:rs28400035). {ECO:0000269|Ref.4}.		defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GAGGCCACAGGACAAGCAGTG	0.378																																																0													94	87	89					14																	31348659		2203	4300	6503	SO:0001583	missense	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.404G>A	14.37:g.31348659G>A	ENSP00000379862:p.Gly135Glu		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.151193	0.78001	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908;ENST00000460581;ENST00000542225	T;T;T;T;T	0.77877	-0.09;-0.09;-0.09;-1.13;0.04	5.74	5.74	0.90152	.	0.607497	0.18102	N	0.151652	T	0.68732	0.3033	L	0.27053	0.805	0.80722	D	1	D;B	0.54047	0.964;0.421	P;B	0.47118	0.538;0.05	T	0.64283	-0.6444	10	0.07482	T	0.82	-8.6384	14.2181	0.65807	0.0:0.1491:0.8509:0.0	.	135;135	Q96IU6;O43405	.;COCH_HUMAN	E	135;135;135;119;23;23	ENSP00000216361:G135E;ENSP00000379862:G135E;ENSP00000451528:G135E;ENSP00000452541:G119E;ENSP00000451713:G23E	ENSP00000216361:G135E	G	+	2	0	COCH	30418410	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.172000	0.58243	2.702000	0.92279	0.591000	0.81541	GGA		0.378	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		A	31348659	G	A	31348659	3	1	328	1	0	0	0	0	1	0	0	0	3658	1174	41	2	422	2	COCH	14	31348659	Missense_Mutation	SNP	G	TCGA-BP-4326-01A-01D-1366-10	7503826	31348659	76000881	39	19221											
DUOX1	53905	hgsc.bcm.edu	37	15	45436426	45436426	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr15:45436426A>G	ENST00000321429.4	+	18	2536	c.2129A>G	c.(2128-2130)tAt>tGt	p.Y710C	DUOX1_ENST00000389037.3_Missense_Mutation_p.Y710C|DUOX1_ENST00000561166.1_Missense_Mutation_p.Y356C	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	710					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCCAAGGAGTATGACCTGGTA	0.617																																																0													74	57	63					15																	45436426		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2129A>G	15.37:g.45436426A>G	ENSP00000317997:p.Tyr710Cys		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682673	0.68157	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.87571	-2.27;-2.27	4.78	4.78	0.61160	.	0.271361	0.38492	N	0.001675	D	0.91935	0.7446	M	0.69358	2.11	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.92617	0.6104	10	0.87932	D	0	-13.4924	12.5745	0.56355	1.0:0.0:0.0:0.0	.	710	Q9NRD9	DUOX1_HUMAN	C	710	ENSP00000317997:Y710C;ENSP00000373689:Y710C	ENSP00000317997:Y710C	Y	+	2	0	DUOX1	43223718	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.892000	0.75644	2.126000	0.65437	0.533000	0.62120	TAT		0.617	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		G	45436426	A	G	45436426	3	3	328	1	0	0	0	0	1	0	0	0	4802	449	16	3	2191	3	DUOX1	15	45436426	Missense_Mutation	SNP	A	TCGA-BP-4326-01A-01D-1366-10		45436426	57094966	40	19222											
TRIP4	9325	hgsc.bcm.edu;ucsc.edu	37	15	64717797	64717797	+	Silent	SNP	T	T	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr15:64717797T>C	ENST00000261884.3	+	11	1602	c.1542T>C	c.(1540-1542)atT>atC	p.I514I		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	514					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGGACCTAATTGACTGCTTGT	0.393																																																0													129	128	128					15																	64717797		2203	4300	6503	SO:0001819	synonymous_variant	9325			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"-"	12310	protein-coding gene	gene with protein product	"zinc finger, C2HC5-type"	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1542T>C	15.37:g.64717797T>C			B2RAS0|Q96ED7|Q9UKH0	Silent	SNP	ENST00000261884.3	37	CCDS10194.1																																																																																				0.393	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		C	64717797	T	C	64717797	2	2	328	1	0	0	0	0	0	0	0	1	16563	1800	63	3		3	TRIP4	15	64717797	Silent	SNP	T	TCGA-BP-4326-01A-01D-1366-10	19281371	64717797	37813595	41	19223											
SH2D7	646892	hgsc.bcm.edu;ucsc.edu	37	15	78385103	78385103	+	Splice_Site	SNP	G	G	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr15:78385103G>A	ENST00000328828.5	+	1	176		c.e1+1		SNORA63_ENST00000362763.1_RNA|SH2D7_ENST00000409568.2_Intron	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7											endometrium(2)|kidney(2)|lung(3)	7						TCACCCGCAAGTAAGGCTGCT	0.567																																																0													41	42	42					15																	78385103		1972	4131	6103	SO:0001630	splice_region_variant	646892				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.176+1G>A	15.37:g.78385103G>A				Splice_Site	SNP	ENST00000328828.5	37	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884446	0.72410	.	.	ENSG00000183476	ENST00000328828	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8627	0.70392	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SH2D7	76172158	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.970000	0.76099	2.568000	0.86640	0.655000	0.94253	.		0.567	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404	Intron	A	78385103	G	A	78385103	5	1	328	1	0	0	0	0	0	0	1	0	14245	1043	36	2	179	2	SH2D7	15	78385103	Splice_Site	SNP	G	TCGA-BP-4326-01A-01D-1366-10	13667306	78385103	24146289	42	19224											
TMC7	79905	hgsc.bcm.edu	37	16	19070743	19070743	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr16:19070743T>C	ENST00000304381.5	+	15	2163	c.2033T>C	c.(2032-2034)aTc>aCc	p.I678T	TMC7_ENST00000421369.3_Missense_Mutation_p.I568T|TMC7_ENST00000569532.1_Missense_Mutation_p.I678T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	678					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGCAGCCTCATCATGTTTTAC	0.468																																																0													199	175	183					16																	19070743		2197	4300	6497	SO:0001583	missense	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2033T>C	16.37:g.19070743T>C	ENSP00000304710:p.Ile678Thr		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958541	0.34565	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.74315	-0.73;-0.83	5.6	5.6	0.85130	.	0.536740	0.19699	N	0.108092	T	0.68155	0.2970	L	0.36672	1.1	0.09310	N	1	B;B	0.19706	0.015;0.038	B;B	0.26614	0.027;0.071	T	0.63120	-0.6708	10	0.62326	D	0.03	.	14.0074	0.64473	0.0:0.0:0.0:1.0	.	678;678	Q7Z402;B3KSZ3	TMC7_HUMAN;.	T	678;568	ENSP00000304710:I678T;ENSP00000397081:I568T	ENSP00000304710:I678T	I	+	2	0	TMC7	18978244	0.115000	0.22152	0.003000	0.11579	0.833000	0.47200	3.603000	0.54074	2.130000	0.65690	0.533000	0.62120	ATC		0.468	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		C	19070743	T	C	19070743	3	2	328	1	0	0	0	0	1	0	0	0	15995	1435	50	3	2091	3	TMC7	16	19070743	Missense_Mutation	SNP	T	TCGA-BP-4326-01A-01D-1366-10		19070743	71284010	43	19225											
NF1	4763	hgsc.bcm.edu;ucsc.edu	37	17	29670103	29670103	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr17:29670103T>G	ENST00000358273.4	+	48	7522	c.7139T>G	c.(7138-7140)cTc>cGc	p.L2380R	NF1_ENST00000356175.3_Missense_Mutation_p.L2359R|NF1_ENST00000444181.2_Missense_Mutation_p.L173R|NF1_ENST00000417592.2_Missense_Mutation_p.L93R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2380					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTGTTGGACTCAATTTCAAC	0.343			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											111	111	111					17																	29670103		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7139T>G	17.37:g.29670103T>G	ENSP00000351015:p.Leu2380Arg		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613884	0.87359	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	T;T;T;T	0.54675	1.4;1.4;1.4;0.56	5.44	5.44	0.79542	Armadillo-type fold (2);	0.067200	0.64402	D	0.000010	T	0.72350	0.3449	M	0.76574	2.34	0.80722	D	1	D;D	0.69078	0.997;0.967	D;P	0.80764	0.994;0.741	T	0.76375	-0.2982	10	0.87932	D	0	.	15.4927	0.75624	0.0:0.0:0.0:1.0	.	2359;2380	P21359-2;P21359	.;NF1_HUMAN	R	2380;2359;2025;173;93	ENSP00000351015:L2380R;ENSP00000348498:L2359R;ENSP00000389907:L2025R;ENSP00000396481:L173R	ENSP00000348498:L2359R	L	+	2	0	NF1	26694229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.333000	0.79214	2.070000	0.61991	0.460000	0.39030	CTC		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		G	29670103	T	G	29670103	3	3	328	1	0	0	0	0	1	0	0	0	10358	1551	54	5	7390	5	NF1	17	29670103	Missense_Mutation	SNP	T	TCGA-BP-4326-01A-01D-1366-10		29670103	51525107	44	19226											
CWC25	54883	hgsc.bcm.edu;ucsc.edu	37	17	36959026	36959026	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr17:36959026T>C	ENST00000225428.5	-	9	1387	c.1090A>G	c.(1090-1092)Aag>Gag	p.K364E	PIP4K2B_ENST00000269554.3_5'Flank|CWC25_ENST00000536127.1_Missense_Mutation_p.K301E	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	364										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GCATGCCTCTTGAGGATGTTC	0.517																																																0													196	200	199					17																	36959026		2011	4177	6188	SO:0001583	missense	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1090A>G	17.37:g.36959026T>C	ENSP00000225428:p.Lys364Glu		A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321099	0.41096	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.71	2.18	0.27775	.	0.291903	0.42548	N	0.000688	T	0.48277	0.1491	M	0.63843	1.955	0.40942	D	0.984474	B;B	0.24258	0.1;0.1	B;B	0.23852	0.049;0.03	T	0.28586	-1.0039	9	0.21014	T	0.42	.	7.2386	0.26084	0.0:0.0726:0.2768:0.6505	.	301;364	B4DJK2;Q9NXE8	.;CWC25_HUMAN	E	364;301	.	ENSP00000225428:K364E	K	-	1	0	CWC25	34212552	0.990000	0.36364	0.773000	0.31616	0.423000	0.31445	0.705000	0.25675	0.086000	0.17137	0.533000	0.62120	AAG		0.517	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		C	36959026	T	C	36959026	3	2	328	1	0	0	0	0	1	0	0	0	4071	1821	63	3	195	3	CWC25	17	36959026	Missense_Mutation	SNP	T	TCGA-BP-4326-01A-01D-1366-10	7288923	36959026	44236184	45	19227											
KAT2A	2648	hgsc.bcm.edu	37	17	40269163	40269163	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr17:40269163C>A	ENST00000225916.5	-	11	1707	c.1654G>T	c.(1654-1656)Gcc>Tcc	p.A552S		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	552	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGATCAAGGCCAGAGTCTTG	0.572											OREG0024419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													47	46	46					17																	40269163		2203	4300	6503	SO:0001583	missense	2648			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1654G>T	17.37:g.40269163C>A	ENSP00000225916:p.Ala552Ser	892	Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620632	0.28889	.	.	ENSG00000108773	ENST00000225916	T	0.07216	3.21	4.35	3.36	0.38483	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.107962	0.64402	N	0.000007	T	0.16471	0.0396	M	0.82923	2.615	0.80722	D	1	B	0.27656	0.184	B	0.31614	0.133	T	0.05068	-1.0908	10	0.66056	D	0.02	-19.2664	14.2239	0.65845	0.151:0.849:0.0:0.0	.	552	Q92830	KAT2A_HUMAN	S	552	ENSP00000225916:A552S	ENSP00000225916:A552S	A	-	1	0	KAT2A	37522689	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	7.776000	0.85560	1.118000	0.41863	-0.314000	0.08810	GCC		0.572	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		A	40269163	C	A	40269163	3	1	328	1	0	0	0	0	1	0	0	0	7983	739	26	4	891	4	KAT2A	17	40269163	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	3310137	40269163	40926047	46	19228											
CPAMD8	27151	hgsc.bcm.edu;ucsc.edu	37	19	17068709	17068709	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr19:17068709T>C	ENST00000443236.1	-	19	2402	c.2371A>G	c.(2371-2373)Agg>Ggg	p.R791G	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	744						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGAAAGTCCTTTTTCTCTTC	0.368																																																0													190	179	182					19																	17068709		1883	4119	6002	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2371A>G	19.37:g.17068709T>C	ENSP00000402505:p.Arg791Gly		Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150313	0.57151	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.3	3.3	0.37823	.	0.000000	0.64402	U	0.000001	T	0.76292	0.3967	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.78934	-0.2008	9	0.87932	D	0	.	11.7346	0.51757	0.0:0.0:0.0:1.0	.	744	Q8IZJ3	CPMD8_HUMAN	G	791	.	ENSP00000291440:R791G	R	-	1	2	CPAMD8	16929709	1.000000	0.71417	0.997000	0.53966	0.785000	0.44390	2.867000	0.48428	1.180000	0.42898	0.477000	0.44152	AGG		0.368	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		C	17068709	T	C	17068709	3	2	328	1	0	0	0	0	1	0	0	0	3797	1608	56	3	3523	3	CPAMD8	19	17068709	Missense_Mutation	SNP	T	TCGA-BP-4326-01A-01D-1366-10		17068709	42060274	47	19229											
ZNF550	162972	hgsc.bcm.edu;ucsc.edu	37	19	58067635	58067635	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr19:58067635C>T	ENST00000457177.1	-	2	298	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	ZNF549_ENST00000602149.1_3'UTR|ZNF550_ENST00000601415.1_Missense_Mutation_p.V40M|ZNF550_ENST00000325134.5_Missense_Mutation_p.V40M|ZNF550_ENST00000506609.2_Missense_Mutation_p.V31M			Q7Z398	ZN550_HUMAN	zinc finger protein 550	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCAGCATCACCTCTCGGTAC	0.552																																																0													108	102	104					19																	58067635		2203	4300	6503	SO:0001583	missense	162972			AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"Zinc fingers, C2H2-type"	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.118G>A	19.37:g.58067635C>T	ENSP00000469679:p.Val40Met		B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	37		.	.	.	.	.	.	.	.	.	.	C	19.88	3.909184	0.72868	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.04015	3.73;3.73	4.23	4.23	0.50019	.	.	.	.	.	T	0.29028	0.0721	M	0.92784	3.345	0.28858	N	0.895655	D	0.89917	1.0	D	0.87578	0.998	T	0.18777	-1.0326	9	0.62326	D	0.03	.	14.1776	0.65552	0.0:1.0:0.0:0.0	.	40	Q7Z398-2	.	M	40;40;31	ENSP00000446224:V40M;ENSP00000422344:V31M	ENSP00000446224:V40M	V	-	1	0	AC003682.1	62759447	0.980000	0.34600	0.993000	0.49108	0.990000	0.78478	2.753000	0.47524	2.174000	0.68829	0.563000	0.77884	GTG		0.552	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		T	58067635	C	T	58067635	3	4	328	1	0	0	0	0	1	0	0	0	17987	507	18	2	1062	2	ZNF550	19	58067635	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	40998926	58067635	1061348	48	19230											
COL20A1	57642	hgsc.bcm.edu	37	20	61929274	61929274	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr20:61929274T>A	ENST00000358894.6	+	3	195	c.95T>A	c.(94-96)cTg>cAg	p.L32Q	COL20A1_ENST00000326996.6_Missense_Mutation_p.L32Q|COL20A1_ENST00000435874.1_Missense_Mutation_p.L32Q|COL20A1_ENST00000422202.1_Missense_Mutation_p.L32Q	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	32	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGCGGTCTCCTGAGGCTGGCT	0.622																																																0													41	50	47					20																	61929274		2033	4181	6214	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.95T>A	20.37:g.61929274T>A	ENSP00000351767:p.Leu32Gln		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554546	0.45487	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.92495	-2.92;-2.97;-3.05;-3.05	3.79	3.79	0.43588	Fibronectin, type III (3);	0.094859	0.44285	U	0.000469	D	0.92795	0.7709	L	0.34521	1.04	0.39522	D	0.968526	D	0.89917	1.0	D	0.76071	0.987	D	0.93632	0.6957	10	0.87932	D	0	.	12.2287	0.54476	0.0:0.0:0.0:1.0	.	32	Q9P218	COKA1_HUMAN	Q	32	ENSP00000351767:L32Q;ENSP00000323077:L32Q;ENSP00000408690:L32Q;ENSP00000414753:L32Q	ENSP00000323077:L32Q	L	+	2	0	COL20A1	61399719	.	.	0.972000	0.41901	0.034000	0.12701	.	.	1.367000	0.46095	0.383000	0.25322	CTG		0.622	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		A	61929274	T	A	61929274	3	1	328	1	0	0	0	0	1	0	0	0	3681	1580	55	5	101	5	COL20A1	20	61929274	Missense_Mutation	SNP	T	TCGA-BP-4326-01A-01D-1366-10		61929274	1096246	49	19231											
MRAP	56246	hgsc.bcm.edu	37	21	33684178	33684178	+	Silent	SNP	C	C	G	rs17855143	byFrequency	TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr21:33684178C>G	ENST00000399784.2	+	5	577	c.390C>G	c.(388-390)acC>acG	p.T130T	MRAP_ENST00000339944.4_Intron|URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000303645.5_Silent_p.T130T|MRAP_ENST00000399786.3_Intron|MRAP_ENST00000497833.1_3'UTR	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	130					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						GCTCCTCCACCTTGCCCCTCG	0.662													C|||	157	0.0313498	0.0008	0.0	5008	,	,		18769	0.0833		0.004	False		,,,				2504	0.0695															0								C	,,	7,4399	12.9+/-30.5	0,7,2196	43	41	42		,390,	2.5	0	21	dbSNP_123	42	4,8596	3.7+/-12.6	0,4,4296	no	utr-3,coding-synonymous,intron	URB1,MRAP	NM_014825.2,NM_178817.3,NM_206898.1	,,	0,11,6492	GG,GC,CC		0.0465,0.1589,0.0846	,,	,130/173,	33684178	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	56246			AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"chromosome 21 open reading frame 61"	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.390C>G	21.37:g.33684178C>G			Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Silent	SNP	ENST00000399784.2	37	CCDS13613.1																																																																																				0.662	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000193092.1	NM_178817		G	33684178	C	G	33684178	2	3	328	1	0	0	0	0	0	0	0	1	9755	668	24	4		4	MRAP	21	33684178	Silent	SNP	C	TCGA-BP-4326-01A-01D-1366-10		33684178	14445717	50	19232											
MYO18B	84700	hgsc.bcm.edu;ucsc.edu	37	22	26348307	26348307	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr22:26348307C>A	ENST00000407587.2	+	38	6060	c.5891C>A	c.(5890-5892)gCc>gAc	p.A1964D	MYO18B_ENST00000335473.7_Missense_Mutation_p.A1963D|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1963D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1963	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGGATCGAGCCATCGTCAGC	0.493																																																0													64	69	67					22																	26348307		2060	4203	6263	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5891C>A	22.37:g.26348307C>A	ENSP00000386096:p.Ala1964Asp		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.009461	0.75046	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87029	-2.18;-2.18;-2.2	5.49	3.12	0.35913	.	0.291150	0.33631	N	0.004712	D	0.85075	0.5614	L	0.43152	1.355	0.40312	D	0.978724	P;P;P;P	0.52316	0.926;0.773;0.952;0.855	P;B;P;P	0.49085	0.6;0.321;0.52;0.52	D	0.86309	0.1685	10	0.59425	D	0.04	.	12.1456	0.54022	0.1185:0.7019:0.1797:0.0	.	1476;1963;1964;1963	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	D	1963;1963;1964	ENSP00000441229:A1963D;ENSP00000334563:A1963D;ENSP00000386096:A1964D	ENSP00000334563:A1963D	A	+	2	0	MYO18B	24678307	0.023000	0.18921	0.994000	0.49952	0.970000	0.65996	1.020000	0.30027	2.592000	0.87571	0.655000	0.94253	GCC		0.493	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		A	26348307	C	A	26348307	3	1	328	1	0	0	0	0	1	0	0	0	10068	739	26	4	6034	4	MYO18B	22	26348307	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10		26348307	24956259	51	19233											
SMTN	6525	hgsc.bcm.edu	37	22	31496960	31496960	+	Intron	SNP	A	A	G			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr22:31496960A>G	ENST00000347557.2	+	19	2821				SMTN_ENST00000404574.1_Missense_Mutation_p.Q421R|SMTN_ENST00000358743.1_Intron|SMTN_ENST00000333137.7_Missense_Mutation_p.Q898R	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACGTACATCCAGGAATTCTAC	0.597																																																0													52	44	47					22																	31496960		2203	4300	6503	SO:0001627	intron_variant	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2603+1078A>G	22.37:g.31496960A>G			O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069672	0.55539	.	.	ENSG00000183963	ENST00000333137;ENST00000329852;ENST00000404496;ENST00000404574;ENST00000403419	D;D	0.95001	-3.58;-3.58	4.41	4.41	0.53225	.	.	.	.	.	D	0.97489	0.9178	M	0.89840	3.065	0.80722	D	1	P;D;D;D;P	0.60160	0.593;0.965;0.98;0.987;0.852	P;D;D;D;D	0.79784	0.886;0.985;0.99;0.993;0.94	D	0.98179	1.0456	8	.	.	.	-25.7055	14.3464	0.66668	1.0:0.0:0.0:0.0	.	954;278;421;921;898	E7ETT8;B5MBZ4;B5MCI0;B5MC56;P53814-5	.;.;.;.;.	R	898;896;921;421;278	ENSP00000329532:Q898R;ENSP00000383919:Q421R	.	Q	+	2	0	SMTN	29826960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.732000	0.91534	1.935000	0.56089	0.460000	0.39030	CAG		0.597	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		G	31496960	A	G	31496960	1	3	328	0	1	0	0	0	0	0	0	0	14820	188	7	3		3	SMTN	22	31496960	Intron	SNP	A	TCGA-BP-4326-01A-01D-1366-10	5148653	31496960	19807606	52	19234											
KCNJ4	3761	hgsc.bcm.edu	37	22	38823945	38823945	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chr22:38823945C>T	ENST00000303592.3	-	2	451	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	65					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ACAAGGAAGGCCGCGGAGAAG	0.627																																																0													167	107	127					22																	38823945		2203	4300	6503	SO:0001583	missense	3761			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.193G>A	22.37:g.38823945C>T	ENSP00000306497:p.Ala65Thr		Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	9.440	1.087865	0.20390	.	.	ENSG00000168135	ENST00000303592	D	0.94376	-3.41	4.86	4.86	0.63082	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.059719	0.64402	D	0.000001	D	0.83557	0.5280	N	0.11818	0.18	0.34061	D	0.657293	B	0.12013	0.005	B	0.12837	0.008	T	0.79769	-0.1664	10	0.11794	T	0.64	.	9.3054	0.37872	0.0:0.8387:0.0:0.1613	.	65	P48050	IRK4_HUMAN	T	65	ENSP00000306497:A65T	ENSP00000306497:A65T	A	-	1	0	KCNJ4	37153891	0.968000	0.33430	1.000000	0.80357	0.970000	0.65996	2.092000	0.41700	2.428000	0.82296	0.555000	0.69702	GCC		0.627	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		T	38823945	C	T	38823945	3	4	328	1	0	0	0	0	1	0	0	0	8055	739	26	2	1148	2	KCNJ4	22	38823945	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	7326985	38823945	12480621	53	19235											
HDHD1A	8226	hgsc.bcm.edu;ucsc.edu	37	X	7035035	7035035	+	Intron	SNP	G	G	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chrX:7035035G>A	ENST00000381077.5	-	2	138				HDHD1_ENST00000498474.2_Intron|HDHD1_ENST00000540122.1_Intron|HDHD1_ENST00000412827.2_Intron|HDHD1_ENST00000424830.2_Silent_p.S34S	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1						nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						agcctcttgaggactcccccg	0.493																																																0													82	75	77					X																	7035035		692	1590	2282	SO:0001627	intron_variant	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.62-11156C>T	X.37:g.7035035G>A			B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	ENST00000381077.5	37	CCDS48075.1																																																																																				0.493	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		A	7035035	G	A	7035035	1	1	328	0	1	0	0	0	0	0	0	0	7024	987	35	2		2	HDHD1A	23	7035035	Intron	SNP	G	TCGA-BP-4326-01A-01D-1366-10		7035035	148235525	54	19236											
ZNF182	7569	hgsc.bcm.edu;ucsc.edu	37	X	47836677	47836677	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chrX:47836677G>C	ENST00000396965.1	-	7	1159	c.809C>G	c.(808-810)gCt>gGt	p.A270G	ZNF182_ENST00000376943.3_Missense_Mutation_p.A251G|ZNF182_ENST00000305127.6_Missense_Mutation_p.A270G	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTGGCTAAAAGCTTTTCCACA	0.423																																																0													75	71	72					X																	47836677		2203	4300	6503	SO:0001583	missense	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.809C>G	X.37:g.47836677G>C	ENSP00000380165:p.Ala270Gly		A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438357	0.43326	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.08458	3.09;3.09;3.09	4.54	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15782	0.0380	L	0.33710	1.025	0.22982	N	0.998472	P;B;B	0.45212	0.853;0.048;0.238	P;B;B	0.58266	0.836;0.208;0.085	T	0.06391	-1.0829	9	0.87932	D	0	.	9.8088	0.40810	0.0:0.2043:0.7957:0.0	.	250;251;270	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	G	251;270;270	ENSP00000366142:A251G;ENSP00000380165:A270G;ENSP00000306351:A270G	ENSP00000306351:A270G	A	-	2	0	ZNF182	47721621	0.069000	0.21087	0.999000	0.59377	0.994000	0.84299	0.742000	0.26216	2.239000	0.73571	0.594000	0.82650	GCT		0.423	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		C	47836677	G	C	47836677	3	2	328	1	0	0	0	0	1	0	0	0	17755	971	34	4	1114	4	ZNF182	23	47836677	Missense_Mutation	SNP	G	TCGA-BP-4326-01A-01D-1366-10	40801642	47836677	107433883	55	19237											
FOXP3	50943	hgsc.bcm.edu	37	X	49113206	49113206	+	Splice_Site	SNP	A	A	T			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chrX:49113206A>T	ENST00000376207.4	-	6	835		c.e6+1		FOXP3_ENST00000376197.1_Splice_Site|FOXP3_ENST00000455775.2_Splice_Site|FOXP3_ENST00000518685.1_Splice_Site|FOXP3_ENST00000376199.2_Splice_Site|FOXP3_ENST00000557224.1_Splice_Site	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3						B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					TGGGCCACTCACTTGAGGAAG	0.577																																					GBM(182;1432 2112 16160 23073 31774)											0													53	43	46					X																	49113206		2203	4300	6503	SO:0001630	splice_region_variant	50943				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.647+1T>A	X.37:g.49113206A>T			A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Splice_Site	SNP	ENST00000376207.4	37	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721485	0.68959	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7025	0.45934	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOXP3	49000150	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.939000	0.75911	1.796000	0.52611	0.486000	0.48141	.		0.577	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009	Intron	T	49113206	A	T	49113206	5	4	328	1	0	0	0	0	0	0	1	0	6030	173	6	5	674	5	FOXP3	23	49113206	Splice_Site	SNP	A	TCGA-BP-4326-01A-01D-1366-10	1276529	49113206	106157354	56	19238											
CYLC1	1538	hgsc.bcm.edu;ucsc.edu	37	X	83128851	83128851	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chrX:83128851G>A	ENST00000329312.4	+	4	1172	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	379					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGATGCAAAGGATGCAAGAAA	0.323																																																0													33	29	30					X																	83128851		2192	4290	6482	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1135G>A	X.37:g.83128851G>A	ENSP00000331556:p.Asp379Asn		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	0.089	-1.170628	0.01660	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.27720	1.65	3.94	1.38	0.22167	.	.	.	.	.	T	0.16557	0.0398	N	0.16903	0.455	0.09310	N	1	B;B	0.19331	0.035;0.017	B;B	0.14023	0.01;0.007	T	0.21280	-1.0250	9	0.40728	T	0.16	.	5.2548	0.15542	0.3929:0.0:0.6071:0.0	.	379;379	P35663;F5H4V5	CYLC1_HUMAN;.	N	379	ENSP00000331556:D379N	ENSP00000331556:D379N	D	+	1	0	CYLC1	83015507	0.350000	0.24878	0.004000	0.12327	0.020000	0.10135	0.559000	0.23485	0.268000	0.21939	0.600000	0.82982	GAT		0.323	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		A	83128851	G	A	83128851	3	1	328	1	0	0	0	0	1	0	0	0	4143	1174	41	2	1149	2	CYLC1	23	83128851	Missense_Mutation	SNP	G	TCGA-BP-4326-01A-01D-1366-10	34015645	83128851	72141709	57	19239											
CAPN6	827	hgsc.bcm.edu	37	X	110494190	110494190	+	Silent	SNP	T	T	G			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chrX:110494190T>G	ENST00000324068.1	-	8	1280	c.1113A>C	c.(1111-1113)tcA>tcC	p.S371S	CAPN6_ENST00000541758.1_Silent_p.S116S	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	371	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGCAGCCTCCTGAGCGGTTCA	0.473																																																0													256	231	239					X																	110494190		2203	4300	6503	SO:0001819	synonymous_variant	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1113A>C	X.37:g.110494190T>G			D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	CCDS14555.1																																																																																				0.473	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			G	110494190	T	G	110494190	2	3	328	1	0	0	0	0	0	0	0	1	2632	1567	55	5		5	CAPN6	23	110494190	Silent	SNP	T	TCGA-BP-4326-01A-01D-1366-10	27365339	110494190	44776370	58	19240											
NKAP	79576	hgsc.bcm.edu;ucsc.edu	37	X	119059315	119059315	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chrX:119059315C>A	ENST00000371410.3	-	9	1282	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	AC002477.1_ENST00000581061.1_RNA|NKAP_ENST00000477789.1_5'UTR|RP3-327A19.5_ENST00000455986.1_RNA	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	372	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CACTGTAGATCTGGTTCTCTT	0.413																																																0													141	127	132					X																	119059315		2203	4300	6503	SO:0001583	missense	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1116G>T	X.37:g.119059315C>A	ENSP00000360464:p.Gln372His		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391715	0.83011	.	.	ENSG00000101882	ENST00000371410	T	0.29397	1.57	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72896	-0.4153	10	0.87932	D	0	-22.5307	13.191	0.59711	0.0:0.92:0.0:0.0799	.	372	Q8N5F7	NKAP_HUMAN	H	372	ENSP00000360464:Q372H	ENSP00000360464:Q372H	Q	-	3	2	NKAP	118943343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.026000	0.70873	2.432000	0.82394	0.600000	0.82982	CAG		0.413	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		A	119059315	C	A	119059315	3	1	328	1	0	0	0	0	1	0	0	0	10441	912	32	4	135	4	NKAP	23	119059315	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	8565125	119059315	36211245	59	19241											
FLNA	2316	hgsc.bcm.edu	37	X	153593804	153593804	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4326-01A-01D-1366-10	TCGA-BP-4326-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a8e77f8d-f08e-4686-9a40-f5298529da15	fa112d8a-9ce9-4c3f-83ee-0c449f2fc9a9	g.chrX:153593804C>G	ENST00000369850.3	-	10	1716	c.1480G>C	c.(1480-1482)Ggt>Cgt	p.G494R	FLNA_ENST00000344736.4_Missense_Mutation_p.G494R|FLNA_ENST00000360319.4_Missense_Mutation_p.G494R|FLNA_ENST00000422373.1_Missense_Mutation_p.G494R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	494					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCCGCACACCCTTGGGCTGG	0.672																																																0													41	43	42					X																	153593804		1996	4146	6142	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1480G>C	X.37:g.153593804C>G	ENSP00000358866:p.Gly494Arg		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324204	0.41197	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06	4.53	4.53	0.55603	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	D	0.96706	0.8925	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	0.968;1.0	P;D	0.91635	0.622;0.999	D	0.97807	1.0248	10	0.87932	D	0	.	16.5883	0.84745	0.0:1.0:0.0:0.0	.	494;494	P21333-2;P21333	.;FLNA_HUMAN	R	494;467;494;494;494	ENSP00000353467:G494R;ENSP00000416926:G494R;ENSP00000358866:G494R;ENSP00000358863:G494R	ENSP00000358863:G494R	G	-	1	0	FLNA	153246998	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	7.815000	0.86186	1.826000	0.53198	0.597000	0.82753	GGT		0.672	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			G	153593804	C	G	153593804	3	3	328	1	0	0	0	0	1	0	0	0	5935	623	22	4	6619	4	FLNA	23	153593804	Missense_Mutation	SNP	C	TCGA-BP-4326-01A-01D-1366-10	34534489	153593804	1676756	60	19242											
PUM1	9698	hgsc.bcm.edu;ucsc.edu	37	1	31479895	31479895	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr1:31479895G>T	ENST00000257075.5	-	4	580	c.487C>A	c.(487-489)Cca>Aca	p.P163T	PUM1_ENST00000440538.2_Missense_Mutation_p.P163T|PUM1_ENST00000373741.4_Missense_Mutation_p.P199T|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000373747.3_Missense_Mutation_p.P163T|PUM1_ENST00000426105.2_Missense_Mutation_p.P163T|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000424085.2_Intron	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	163					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATTCCTTTTGGTCCATCTTTG	0.388																																																0													296	284	288					1																	31479895		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.487C>A	1.37:g.31479895G>T	ENSP00000257075:p.Pro163Thr		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.26|14.26	2.482844|2.482844	0.44147|0.44147	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000543952|ENST00000525843	T;T;T;T;T|.	0.15952|.	2.38;2.64;2.64;2.61;2.63|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72669|0.72669	0.3489|0.3489	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	P;P;P;B|.	0.50819|.	0.757;0.939;0.488;0.349|.	B;P;B;B|.	0.44394|.	0.225;0.448;0.142;0.142|.	T|T	0.69250|0.69250	-0.5194|-0.5194	10|5	0.25751|.	T|.	0.34|.	-6.1938|-6.1938	19.0513|19.0513	0.93046|0.93046	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	199;163;163;163|.	Q5T1Z8;Q14671-2;Q14671;E9PCJ0|.	.;.;PUM1_HUMAN;.|.	T|N	163;163;163;163;199;163|179	ENSP00000257075:P163T;ENSP00000362852:P163T;ENSP00000391723:P163T;ENSP00000401777:P163T;ENSP00000362846:P199T|.	ENSP00000257075:P163T|.	P|T	-|-	1|2	0|0	PUM1|PUM1	31252482|31252482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.776000|7.776000	0.85560|0.85560	2.736000|2.736000	0.93811|0.93811	0.557000|0.557000	0.71058|0.71058	CCA|ACC		0.388	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			T	31479895	G	T	31479895	3	4	329	1	0	0	0	0	1	0	0	0	12831	1261	44	4	3155	4	PUM1	1	31479895	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10		31479895	217770726	1	19243											
AHCYL1	10768	hgsc.bcm.edu;ucsc.edu	37	1	110553923	110553923	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr1:110553923T>A	ENST00000369799.5	+	3	687	c.320T>A	c.(319-321)gTg>gAg	p.V107E	AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.V60E|AHCYL1_ENST00000359172.3_Missense_Mutation_p.V60E	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	107					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AATTTCTGTGTGAAGAACATC	0.502																																																0													181	116	138					1																	110553923		2203	4300	6503	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.320T>A	1.37:g.110553923T>A	ENSP00000358814:p.Val107Glu		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	T	33	5.236495	0.95240	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.82167	-1.58;-1.58;-1.58	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.93324	0.7872	H	0.96080	3.765	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	D	0.95248	0.8357	10	0.87932	D	0	-25.3709	16.3756	0.83387	0.0:0.0:0.0:1.0	.	107	O43865	SAHH2_HUMAN	E	107;60;60	ENSP00000358814:V107E;ENSP00000352092:V60E;ENSP00000377238:V60E	ENSP00000352092:V60E	V	+	2	0	AHCYL1	110355446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.270000	0.75569	0.460000	0.39030	GTG		0.502	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			A	110553923	T	A	110553923	3	1	329	1	0	0	0	0	1	0	0	0	410	1696	59	5	330	5	AHCYL1	1	110553923	Missense_Mutation	SNP	T	TCGA-BP-4329-01A-02D-1366-10	79074028	110553923	138696698	2	19244											
NPR1	4881	hgsc.bcm.edu	37	1	153660245	153660246	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr1:153660245_153660246delGT	ENST00000368680.3	+	14	2700_2701	c.2228_2229delGT	c.(2227-2229)ggtfs	p.G743fs		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	743	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CACGTGGAAGGTTTGGACCTGA	0.609																																					Pancreas(141;1349 1870 15144 15830 40702)											0																																										SO:0001589	frameshift_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2228_2229delGT	1.37:g.153660245_153660246delGT	ENSP00000357669:p.Gly743fs		B0ZBF0|Q5SR08|Q6P4Q3	Frame_Shift_Del	DEL	ENST00000368680.3	37	CCDS1051.1																																																																																				0.609	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		-	153660246	GT	-	153660245	7	5	329	1	0	1	0	1	0	0	0	0	10596	1261	44	0	2282	0	NPR1	1	153660245	Frame_Shift_Del	DEL	GT	TCGA-BP-4329-01A-02D-1366-10	43106322	153660245	95590376	3	19245											
FAM129A	116496	hgsc.bcm.edu	37	1	184764659	184764659	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr1:184764659C>T	ENST00000367511.3	-	14	2432	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	747	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTTTCCTCTTCTTCTTCATTT	0.547																																																0													151	161	157					1																	184764659		2203	4300	6503	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2239G>A	1.37:g.184764659C>T	ENSP00000356481:p.Glu747Lys		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659688	0.47572	.	.	ENSG00000135842	ENST00000367511	T	0.15603	2.41	5.44	3.52	0.40303	.	0.355286	0.23844	N	0.044002	T	0.10551	0.0258	L	0.29908	0.895	0.09310	N	1	B	0.19583	0.037	B	0.17098	0.017	T	0.32851	-0.9891	10	0.10902	T	0.67	-2.4055	8.6959	0.34296	0.156:0.7659:0.0:0.0781	.	747	Q9BZQ8	NIBAN_HUMAN	K	747	ENSP00000356481:E747K	ENSP00000356481:E747K	E	-	1	0	FAM129A	183031282	0.000000	0.05858	0.466000	0.27168	0.471000	0.32888	0.194000	0.17135	1.243000	0.43853	0.491000	0.48974	GAA		0.547	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			T	184764659	C	T	184764659	3	4	329	1	0	0	0	0	1	0	0	0	5438	922	32	2	551	2	FAM129A	1	184764659	Missense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10	31104414	184764659	64485962	4	19246											
CR1	1378	hgsc.bcm.edu;ucsc.edu	37	1	207791580	207791580	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr1:207791580C>G	ENST00000367049.4	+	42	7054	c.7054C>G	c.(7054-7056)Cat>Gat	p.H2352D	CR1_ENST00000367053.1_Missense_Mutation_p.H1902D|CR1_ENST00000400960.2_Missense_Mutation_p.H1902D|CR1_ENST00000367051.1_Missense_Mutation_p.H1902D|CR1_ENST00000367052.1_Missense_Mutation_p.H1902D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1902					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAATTGGATCATTATTGCAA	0.438																																																0													230	218	222					1																	207791580		1915	4126	6041	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7054C>G	1.37:g.207791580C>G	ENSP00000356016:p.His2352Asp		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.057|2.057	-0.416249|-0.416249	0.04766|0.04766	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049|ENST00000529814	T;T;T;T;T|.	0.76060|.	-0.99;-0.99;-0.99;-0.99;-0.99|.	4.19|4.19	2.3|2.3	0.28687|0.28687	Complement control module (2);Sushi/SCR/CCP (2);|.	.|.	.|.	.|.	.|.	T|T	0.32941|0.32941	0.0846|0.0846	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D;D|.	0.59767|.	0.981;0.986|.	P;P|.	0.62491|.	0.892;0.903|.	T|T	0.20706|0.20706	-1.0267|-1.0267	9|5	0.16896|.	T|.	0.51|.	.|.	5.7883|5.7883	0.18347|0.18347	0.0:0.697:0.1974:0.1057|0.0:0.697:0.1974:0.1057	.|.	1902;2352|.	P17927;E9PDY4|.	CR1_HUMAN;.|.	D|M	1902;1902;1902;1902;2352|524	ENSP00000356019:H1902D;ENSP00000356018:H1902D;ENSP00000356020:H1902D;ENSP00000383744:H1902D;ENSP00000356016:H2352D|.	ENSP00000356016:H2352D|.	H|I	+|+	1|3	0|3	CR1|CR1	205858203|205858203	0.010000|0.010000	0.17322|0.17322	0.002000|0.002000	0.10522|0.10522	0.734000|0.734000	0.41952|0.41952	1.824000|1.824000	0.39072|0.39072	0.718000|0.718000	0.32166|0.32166	-0.302000|-0.302000	0.09304|0.09304	CAT|ATC		0.438	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		G	207791580	C	G	207791580	3	3	329	1	0	0	0	0	1	0	0	0	3842	826	29	4	7220	4	CR1	1	207791580	Missense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10	23026921	207791580	41459041	5	19247											
SMYD2	56950	hgsc.bcm.edu;ucsc.edu	37	1	214488133	214488133	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr1:214488133A>C	ENST00000366957.5	+	3	288	c.266A>C	c.(265-267)gAa>gCa	p.E89A	SMYD2_ENST00000415093.2_Missense_Mutation_p.E89A|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	89	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CACAAGCTGGAATGTTCTCCC	0.423																																																0													100	98	99					1																	214488133		2203	4300	6503	SO:0001583	missense	56950			AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.266A>C	1.37:g.214488133A>C	ENSP00000355924:p.Glu89Ala		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.861845	0.91433	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	T;T	0.12984	2.63;2.63	5.57	5.57	0.84162	SET domain (2);Zinc finger, MYND-type (2);	0.044496	0.85682	D	0.000000	T	0.31167	0.0788	L	0.42487	1.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01639	-1.1306	10	0.72032	D	0.01	-3.7688	16.0129	0.80417	1.0:0.0:0.0:0.0	.	89	Q9NRG4	SMYD2_HUMAN	A	89	ENSP00000355924:E89A;ENSP00000388682:E89A	ENSP00000355924:E89A	E	+	2	0	SMYD2	212554756	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	8.910000	0.92685	2.243000	0.73865	0.459000	0.35465	GAA		0.423	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		C	214488133	A	C	214488133	3	2	329	1	0	0	0	0	1	0	0	0	14828	246	9	5	276	5	SMYD2	1	214488133	Missense_Mutation	SNP	A	TCGA-BP-4329-01A-02D-1366-10	6696553	214488133	34762488	6	19248											
CENPF	1063	hgsc.bcm.edu	37	1	214815523	214815523	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr1:214815523C>T	ENST00000366955.3	+	12	4010	c.3842C>T	c.(3841-3843)aCa>aTa	p.T1281I		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGTTGTCAACAAGTCAAAAC	0.398																																					Colon(80;575 1284 11000 14801 43496)											0													66	64	65					1																	214815523		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3842C>T	1.37:g.214815523C>T	ENSP00000355922:p.Thr1281Ile		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549347	0.65311	.	.	ENSG00000117724	ENST00000366955	T	0.22539	1.95	5.06	5.06	0.68205	.	0.410430	0.18039	N	0.153662	T	0.27098	0.0664	.	.	.	0.31221	N	0.697449	P	0.48230	0.907	P	0.46796	0.527	T	0.11397	-1.0589	9	0.42905	T	0.14	.	15.3551	0.74421	0.0:1.0:0.0:0.0	.	1281	P49454	CENPF_HUMAN	I	1281	ENSP00000355922:T1281I	ENSP00000355922:T1281I	T	+	2	0	CENPF	212882146	0.000000	0.05858	0.996000	0.52242	0.850000	0.48378	0.547000	0.23299	2.356000	0.79943	0.511000	0.50034	ACA		0.398	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214815523	C	T	214815523	3	4	329	1	0	0	0	0	1	0	0	0	3233	478	17	2	3884	2	CENPF	1	214815523	Missense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10	327390	214815523	34435098	7	19249											
AFF3	3899	hgsc.bcm.edu	37	2	100623382	100623382	+	Silent	SNP	G	G	A			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr2:100623382G>A	ENST00000409236.2	-	5	697	c.585C>T	c.(583-585)acC>acT	p.T195T	AFF3_ENST00000317233.4_Silent_p.T195T|AFF3_ENST00000409579.1_Silent_p.T220T|AFF3_ENST00000356421.2_Silent_p.T220T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	195					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCCTCTCCTGGGTCTGAAGGC	0.592																																																0													65	68	67					2																	100623382		2203	4300	6503	SO:0001819	synonymous_variant	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.585C>T	2.37:g.100623382G>A			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	CCDS42723.1																																																																																				0.592	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		A	100623382	G	A	100623382	2	1	329	1	0	0	0	0	0	0	0	1	358	1219	43	2		2	AFF3	2	100623382	Silent	SNP	G	TCGA-BP-4329-01A-02D-1366-10		100623382	142575991	8	19250											
RGPD5	84220	hgsc.bcm.edu	37	2	110602778	110602778	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr2:110602778G>A	ENST00000016946.3	+	21	5178	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K		NM_005054.2	NP_005045.2	Q99666	RGPD5_HUMAN	RANBP2-like and GRIP domain containing 5	1674					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)				central_nervous_system(1)	1						CCTGCTTCGGGAAATAGAGGC	0.468																																																0													1	1	1					2																	110602778		1	5	6	SO:0001583	missense	84220			U64675	CCDS2082.1, CCDS2083.1	2q13	2013-01-10			ENSG00000015568	ENSG00000015568		"Tetratricopeptide (TTC) repeat domain containing"	32418	protein-coding gene	gene with protein product		612708				15710750, 15815621	Standard	NM_032260		Approved	RGP5, BS-63, DKFZp686I1842		Q99666	OTTHUMG00000130985	ENST00000016946.3:c.5020G>A	2.37:g.110602778G>A	ENSP00000016946:p.Glu1674Lys		Q53QN2|Q53T03|Q59GM7|Q9H0B2	Missense_Mutation	SNP	ENST00000016946.3	37	CCDS2082.1	.	.	.	.	.	.	.	.	.	.	g	8.489	0.861476	0.17178	.	.	ENSG00000015568	ENST00000016946	T	0.54675	0.56	0.702	0.702	0.18110	.	.	.	.	.	T	0.41190	0.1148	M	0.62723	1.935	0.80722	D	1	P	0.48911	0.917	B	0.36134	0.218	T	0.41875	-0.9484	9	0.49607	T	0.09	-35.2953	7.3764	0.26831	0.0:0.0:1.0:0.0	.	1674	Q99666	RGPD5_HUMAN	K	1674	ENSP00000016946:E1674K	ENSP00000016946:E1674K	E	+	1	0	RGPD5	109960067	1.000000	0.71417	0.997000	0.53966	0.036000	0.12997	6.477000	0.73591	0.700000	0.31782	0.109000	0.15622	GAA		0.468	RGPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253599.3	NM_005054		A	110602778	G	A	110602778	3	1	329	1	0	0	0	0	1	0	0	0	13295	1175	41	2	5219	2	RGPD5	2	110602778	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10	9979396	110602778	132596595	9	19251											
R3HDM1	23518	hgsc.bcm.edu	37	2	136409444	136409444	+	Missense_Mutation	SNP	C	C	T	rs112729561	byFrequency	TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr2:136409444C>T	ENST00000264160.4	+	17	2135	c.1765C>T	c.(1765-1767)Cct>Tct	p.P589S	R3HDM1_ENST00000409478.1_Missense_Mutation_p.P461S|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P534S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P460S|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P590S	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	589	Poly-Pro.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GACAGCAGCCcctccaccaca	0.592																																																0													130	108	116					2																	136409444		2203	4300	6503	SO:0001583	missense	23518			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1765C>T	2.37:g.136409444C>T	ENSP00000264160:p.Pro589Ser		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.06|18.06	3.539918|3.539918	0.65085|0.65085	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000429703;ENST00000425804|ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	.|T;T;T;T;T	.|0.45668	.|0.89;0.89;0.89;0.89;0.89	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.316472|0.316472	0.34986|0.34986	N|N	0.003525|0.003525	T|T	0.59252|0.59252	0.2180|0.2180	L|L	0.60455|0.60455	1.87|1.87	0.42720|0.42720	D|D	0.993671|0.993671	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.993;1.0	.|D;D;D;D	.|0.87578	.|0.998;0.992;0.968;0.992	T|T	0.53885|0.53885	-0.8375|-0.8375	6|10	.|0.22109	.|T	.|0.4	-7.9857|-7.9857	16.2572|16.2572	0.82524|0.82524	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|461;590;534;589	.|G5E9G8;E9PBB4;E9PG42;Q15032	.|.;.;.;R3HD1_HUMAN	L|S	312;172|461;589;460;534;590	.|ENSP00000386457:P461S;ENSP00000264160:P589S;ENSP00000331396:P460S;ENSP00000386877:P534S;ENSP00000387010:P590S	.|ENSP00000264160:P589S	P|P	+|+	2|1	0|0	R3HDM1|R3HDM1	136125914|136125914	0.989000|0.989000	0.36119|0.36119	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	3.466000|3.466000	0.53071|0.53071	2.414000|2.414000	0.81942|0.81942	0.561000|0.561000	0.74099|0.74099	CCC|CCT		0.592	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		T	136409444	C	T	136409444	3	4	329	1	0	0	0	0	1	0	0	0	12893	623	22	2	1823	2	R3HDM1	2	136409444	Missense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10	25806666	136409444	106789929	10	19252											
TNS1	7145	hgsc.bcm.edu;ucsc.edu	37	2	218673368	218673368	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr2:218673368A>T	ENST00000171887.4	-	31	5440	c.4988T>A	c.(4987-4989)cTc>cAc	p.L1663H	TNS1_ENST00000430930.1_Missense_Mutation_p.L1642H|TNS1_ENST00000419504.1_Missense_Mutation_p.L1649H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1663					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACAGTGTTGAGAGGGTAGTG	0.498																																																0													299	275	283					2																	218673368		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4988T>A	2.37:g.218673368A>T	ENSP00000171887:p.Leu1663His		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471229	0.63625	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.02	4.02	0.46733	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.372440	0.27236	N	0.020297	T	0.59088	0.2168	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.77004	0.989;0.989;0.965	T	0.63418	-0.6642	10	0.87932	D	0	.	13.1543	0.59508	1.0:0.0:0.0:0.0	.	1663;1642;1649	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	H	1663;801;1649;1642	ENSP00000171887:L1663H;ENSP00000394171:L801H;ENSP00000408724:L1649H;ENSP00000406016:L1642H	ENSP00000171887:L1663H	L	-	2	0	TNS1	218381613	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.320000	0.51991	1.679000	0.50963	0.374000	0.22700	CTC		0.498	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		T	218673368	A	T	218673368	3	4	329	1	0	0	0	0	1	0	0	0	16348	304	11	5	231	5	TNS1	2	218673368	Missense_Mutation	SNP	A	TCGA-BP-4329-01A-02D-1366-10	82263924	218673368	24526005	11	19253											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188243	10188243	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr3:10188243T>C	ENST00000256474.2	+	2	1226	c.386T>C	c.(385-387)cTg>cCg	p.L129P	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	129	Involved in binding to CCT complex.		L -> LE (in VHLD).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GATGGGCTTCTGGTTAACCAA	0.473		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	1	Deletion - Frameshift(1)	kidney(1)	GRCh37	CI024081	VHL	I							202	186	192					3																	10188243		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.386T>C	3.37:g.10188243T>C	ENSP00000256474:p.Leu129Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.212082	0.39102	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99848	-7.14	5.07	3.89	0.44902	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.332531	0.28977	N	0.013530	D	0.99591	0.9852	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98141	1.0436	10	0.51188	T	0.08	-18.8889	10.4626	0.44590	0.0:0.0:0.1639:0.8361	.	129	P40337	VHL_HUMAN	P	129;47	ENSP00000256474:L129P	ENSP00000256474:L129P	L	+	2	0	VHL	10163243	1.000000	0.71417	0.998000	0.56505	0.189000	0.23516	3.266000	0.51569	0.869000	0.35703	-0.460000	0.05396	CTG		0.473	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10188243	T	C	10188243	3	2	329	1	0	0	0	0	1	0	0	0	17167	1580	55	3	392	3	VHL	3	10188243	Missense_Mutation	SNP	T	TCGA-BP-4329-01A-02D-1366-10		10188243	187834187	12	19254											
SETD2	29072	hgsc.bcm.edu	37	3	47155365	47155365	+	Splice_Site	SNP	C	C	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr3:47155365C>T	ENST00000409792.3	-	5	4758		c.e5+1			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAAGAACTTACGAAGGAAGGT	0.453			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													106	107	106					3																	47155365		2203	4300	6503	SO:0001630	splice_region_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4715+1G>A	3.37:g.47155365C>T			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377351	0.82682	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8075	0.88606	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47130369	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.256000	0.78350	2.518000	0.84900	0.585000	0.79938	.		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Intron	T	47155365	C	T	47155365	5	4	329	1	0	0	0	0	0	0	1	0	14137	550	19	1	3046	1	SETD2	3	47155365	Splice_Site	SNP	C	TCGA-BP-4329-01A-02D-1366-10	36967122	47155365	150867065	13	19255											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52712580	52712580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr3:52712580G>A	ENST00000296302.7	-	2	173	c.172C>T	c.(172-174)Cga>Tga	p.R58*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R58*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R58*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R58*			Q86U86	PB1_HUMAN	polybromo 1	58					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R58*(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTATAGTCTCGGATGGTATTA	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	7	Substitution - Nonsense(7)	kidney(6)|large_intestine(1)											130	118	122					3																	52712580		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.172C>T	3.37:g.52712580G>A	ENSP00000296302:p.Arg58*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.705422	0.96812	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	.	.	.	5.2	3.17	0.36434	.	0.056365	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.9834	8.9802	0.35961	0.0:0.1109:0.6405:0.2486	.	.	.	.	X	58;58;58;58;58;58;58;58;58;2;58;58;58;58	.	ENSP00000296302:R58X	R	-	1	2	PBRM1	52687620	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.452000	0.52971	1.160000	0.42584	0.460000	0.39030	CGA		0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52712580	G	A	52712580	4	1	329	1	0	0	0	0	0	1	0	0	11493	1124	39	1	4844	1	PBRM1	3	52712580	Nonsense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10	5557215	52712580	145309850	14	19256											
SLC41A3	54946	hgsc.bcm.edu;ucsc.edu	37	3	125725333	125725333	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr3:125725333G>T	ENST00000315891.6	-	12	1679	c.1441C>A	c.(1441-1443)Ccc>Acc	p.P481T	SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P445T	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	481						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CAGATGAAGGGTTGTATGAGG	0.448																																																0													62	60	61					3																	125725333		2203	4300	6503	SO:0001583	missense	54946				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1441C>A	3.37:g.125725333G>T	ENSP00000326070:p.Pro481Thr		A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	3.489	-0.104356	0.06967	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.28454	1.61;1.62	2.64	-0.361	0.12564	.	0.885835	0.09647	N	0.774106	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.003	T	0.26121	-1.0112	10	0.87932	D	0	.	2.3271	0.04225	0.2954:0.0:0.4632:0.2414	.	445;481	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	T	445;481	ENSP00000264471:P445T;ENSP00000326070:P481T	ENSP00000326070:P481T	P	-	1	0	SLC41A3	127208023	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.169000	0.16641	-0.099000	0.12263	0.491000	0.48974	CCC		0.448	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		T	125725333	G	T	125725333	3	4	329	1	0	0	0	0	1	0	0	0	14637	1261	44	4	86	4	SLC41A3	3	125725333	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10	73012753	125725333	72297097	15	19257											
RPL22L1	200916	hgsc.bcm.edu;ucsc.edu	37	3	170584200	170584200	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr3:170584200T>A	ENST00000295830.8	-	4	653	c.338A>T	c.(337-339)cAa>cTa	p.Q113L	RPL22L1_ENST00000463836.1_Missense_Mutation_p.Q112L	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	113					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATCTTCATCTTGACTAATCTG	0.398																																																0													49	45	46					3																	170584200		1839	4095	5934	SO:0001583	missense	200916			BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.338A>T	3.37:g.170584200T>A	ENSP00000346080:p.Gln113Leu		Q32Q77	Missense_Mutation	SNP	ENST00000295830.8	37	CCDS46955.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.886643	0.72410	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	T;T;T	0.43688	0.94;0.94;0.94	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.87900	2.915	0.80722	D	1	B	0.31413	0.322	B	0.34931	0.192	T	0.59705	-0.7404	10	0.56958	D	0.05	.	15.3775	0.74621	0.0:0.0:0.0:1.0	.	113	Q6P5R6	RL22L_HUMAN	L	113;133;112	ENSP00000346080:Q113L;ENSP00000419713:Q133L;ENSP00000419041:Q112L	ENSP00000346080:Q113L	Q	-	2	0	RPL22L1	172066894	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.283000	0.72646	2.042000	0.60477	0.260000	0.18958	CAA		0.398	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317		A	170584200	T	A	170584200	3	1	329	1	0	0	0	0	1	0	0	0	13575	1812	63	5	34	5	RPL22L1	3	170584200	Missense_Mutation	SNP	T	TCGA-BP-4329-01A-02D-1366-10	44858867	170584200	27438230	16	19258											
STAP1	26228	hgsc.bcm.edu;ucsc.edu	37	4	68436805	68436805	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr4:68436805T>A	ENST00000265404.2	+	2	206	c.124T>A	c.(124-126)Tat>Aat	p.Y42N	STAP1_ENST00000396225.1_Missense_Mutation_p.Y42N	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	42	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CCCACAGGAGTATGAGCATTA	0.299																																																0													149	169	162					4																	68436805		2203	4299	6502	SO:0001583	missense	26228			AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"SH2 domain containing"	24133	protein-coding gene	gene with protein product	"BCR downstream signaling 1"	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.124T>A	4.37:g.68436805T>A	ENSP00000265404:p.Tyr42Asn		B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.853536	0.32791	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.33438	1.41;1.41	4.36	4.36	0.52297	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.158215	0.45126	D	0.000396	T	0.31575	0.0801	L	0.59436	1.845	0.38448	D	0.946899	P	0.40553	0.721	B	0.40982	0.345	T	0.30995	-0.9959	10	0.62326	D	0.03	-2.0261	10.097	0.42482	0.0:0.0:0.0:1.0	.	42	Q9ULZ2	STAP1_HUMAN	N	42	ENSP00000265404:Y42N;ENSP00000379527:Y42N	ENSP00000265404:Y42N	Y	+	1	0	STAP1	68119400	0.996000	0.38824	0.984000	0.44739	0.179000	0.23085	3.748000	0.55142	1.957000	0.56846	0.352000	0.21897	TAT		0.299	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		A	68436805	T	A	68436805	3	1	329	1	0	0	0	0	1	0	0	0	15257	1638	57	5	130	5	STAP1	4	68436805	Missense_Mutation	SNP	T	TCGA-BP-4329-01A-02D-1366-10		68436805	122717471	17	19259											
HELQ	113510	hgsc.bcm.edu	37	4	84350864	84350864	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr4:84350864C>T	ENST00000295488.3	-	12	2493	c.2331G>A	c.(2329-2331)atG>atA	p.M777I	HELQ_ENST00000510985.1_Missense_Mutation_p.M710I	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	777					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATGTACCATTCATGAAATGAT	0.338								Other identified genes with known or suspected DNA repair function																																								0													43	40	41					4																	84350864		2199	4297	6496	SO:0001583	missense	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2331G>A	4.37:g.84350864C>T	ENSP00000295488:p.Met777Ile		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359008	0.41801	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.40476	1.03;1.03	5.22	5.22	0.72569	.	0.098933	0.64402	D	0.000002	T	0.34832	0.0911	L	0.52266	1.64	0.53005	D	0.999964	P;B	0.41159	0.74;0.069	B;B	0.35931	0.214;0.032	T	0.11690	-1.0577	10	0.22706	T	0.39	-9.9733	13.7152	0.62691	0.1541:0.8459:0.0:0.0	.	710;777	E3W980;Q8TDG4	.;HELQ_HUMAN	I	777;710	ENSP00000295488:M777I;ENSP00000424539:M710I	ENSP00000295488:M777I	M	-	3	0	HELQ	84569888	0.996000	0.38824	0.996000	0.52242	0.778000	0.44026	3.107000	0.50329	2.420000	0.82092	0.467000	0.42956	ATG		0.338	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		T	84350864	C	T	84350864	3	4	329	1	0	0	0	0	1	0	0	0	7049	826	29	2	1002	2	HELQ	4	84350864	Missense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10	15914059	84350864	106803412	18	19260											
HPGDS	27306	hgsc.bcm.edu;ucsc.edu	37	4	95229888	95229888	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr4:95229888G>A	ENST00000295256.5	-	4	323	c.233C>T	c.(232-234)gCt>gTt	p.A78V	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	78	GST N-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TGTGTTTCCAGCCAAATCTGT	0.343																																					Colon(86;1802 1843 17863 46794)											0													134	125	128					4																	95229888		2203	4300	6503	SO:0001583	missense	27306			D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"Glutathione S-transferases / Soluble"	17890	protein-coding gene	gene with protein product	"glutathione S-transferase sigma"	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.233C>T	4.37:g.95229888G>A	ENSP00000295256:p.Ala78Val		Q6FHT9	Missense_Mutation	SNP	ENST00000295256.5	37	CCDS3640.1	.	.	.	.	.	.	.	.	.	.	G	6.912	0.537881	0.13188	.	.	ENSG00000163106	ENST00000295256	T	0.02631	4.22	5.43	5.43	0.79202	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase, N-terminal (1);Thioredoxin-like fold (1);	0.156225	0.45361	D	0.000380	T	0.03783	0.0107	L	0.48986	1.54	0.45108	D	0.998129	P	0.50943	0.94	B	0.42625	0.393	T	0.57522	-0.7797	10	0.19590	T	0.45	.	10.2053	0.43109	0.0899:0.0:0.9101:0.0	.	78	O60760	HPGDS_HUMAN	V	78	ENSP00000295256:A78V	ENSP00000295256:A78V	A	-	2	0	HPGDS	95448911	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.620000	0.61226	2.538000	0.85594	0.561000	0.74099	GCT		0.343	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		A	95229888	G	A	95229888	3	1	329	1	0	0	0	0	1	0	0	0	7337	971	34	2	378	2	HPGDS	4	95229888	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10	10879024	95229888	95924388	19	19261											
MMAA	166785	hgsc.bcm.edu;ucsc.edu	37	4	146560425	146560425	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr4:146560425A>C	ENST00000281317.5	+	2	1344	c.134A>C	c.(133-135)aAt>aCt	p.N45T	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	45					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCCGTTTAATTCTCTTGGA	0.418																																																0													142	138	139					4																	146560425		2203	4300	6503	SO:0001583	missense	166785			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.134A>C	4.37:g.146560425A>C	ENSP00000281317:p.Asn45Thr		B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	a	16.35	3.098559	0.56183	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.91686	-2.89	5.42	-0.142	0.13448	.	1.140130	0.06315	N	0.703327	D	0.87136	0.6102	L	0.43152	1.355	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.71636	-0.4533	10	0.39692	T	0.17	-23.2473	5.6152	0.17428	0.5628:0.2467:0.1905:0.0	.	45;45	Q8IVH4;D6RIS5	MMAA_HUMAN;.	T	45	ENSP00000281317:N45T	ENSP00000281317:N45T	N	+	2	0	MMAA	146779875	0.000000	0.05858	0.002000	0.10522	0.860000	0.49131	-0.804000	0.04535	-0.159000	0.11021	0.533000	0.62120	AAT		0.418	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			C	146560425	A	C	146560425	3	2	329	1	0	0	0	0	1	0	0	0	9641	101	4	5	136	5	MMAA	4	146560425	Missense_Mutation	SNP	A	TCGA-BP-4329-01A-02D-1366-10	51330537	146560425	44593851	20	19262											
ZDHHC11	79844	hgsc.bcm.edu;ucsc.edu	37	5	819652	819653	+	Frame_Shift_Ins	INS	-	-	C	rs572001257		TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr5:819652_819653insC	ENST00000283441.8	-	10	1516_1517	c.1133_1134insG	c.(1132-1134)ggcfs	p.G378fs	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Frame_Shift_Ins_p.G378fs	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	378						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GTGCCATCGAGCCCCCGTCTGG	0.584																																																0																																										SO:0001589	frameshift_variant	79844			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1134dupG	5.37:g.819657_819657dupC	ENSP00000283441:p.Gly378fs		Q6UWR9	Frame_Shift_Ins	INS	ENST00000283441.8	37	CCDS3857.1																																																																																				0.584	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		C	819653	-	C	819652	7	5	329	1	0	1	1	0	0	0	0	0	17606	958	34	0	116	0	ZDHHC11	5	819652	Frame_Shift_Ins	INS	-	TCGA-BP-4329-01A-02D-1366-10		819652	180095608	21	19263											
CPLX2	10814	hgsc.bcm.edu	37	5	175306957	175306957	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr5:175306957G>A	ENST00000359546.4	+	5	957	c.314G>A	c.(313-315)tGc>tAc	p.C105Y	CPLX2_ENST00000515094.1_Missense_Mutation_p.C105Y|CPLX2_ENST00000393745.3_Missense_Mutation_p.C105Y	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	105					cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTGCGGGCTGCGGGGACGAG	0.627																																																0													36	39	38					5																	175306957		2202	4300	6502	SO:0001583	missense	10814			U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.314G>A	5.37:g.175306957G>A	ENSP00000352544:p.Cys105Tyr		B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	CCDS4396.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	21.5|21.5	4.152236|4.152236	0.78001|0.78001	.|.	.|.	ENSG00000145920|ENSG00000145920	ENST00000393746|ENST00000359546;ENST00000509837;ENST00000393745;ENST00000514150;ENST00000515094	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	.|T	.|0.79667	.|0.4485	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|D	.|0.55800	.|0.973	.|D	.|0.77557	.|0.99	.|T	.|0.82374	.|-0.0489	.|9	.|0.87932	.|D	.|0	.|-1.5347	16.1282|16.1282	0.81408|0.81408	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|105	.|Q6PUV4	.|CPLX2_HUMAN	.|Y	-1|105	.|.	.|ENSP00000352544:C105Y	.|C	+|+	.|2	.|0	CPLX2|CPLX2	175239563|175239563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	9.720000|9.720000	0.98763|0.98763	2.397000|2.397000	0.81536|0.81536	0.454000|0.454000	0.30748|0.30748	.|TGC		0.627	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			A	175306957	G	A	175306957	3	1	329	1	0	0	0	0	1	0	0	0	3807	1319	46	2	324	2	CPLX2	5	175306957	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10	174487305	175306957	5608303	22	19264											
MAPK9	5601	hgsc.bcm.edu	37	5	179676014	179676014	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr5:179676014C>T	ENST00000452135.2	-	6	873	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	MAPK9_ENST00000347470.4_Missense_Mutation_p.R192Q|MAPK9_ENST00000455781.1_Missense_Mutation_p.R192Q|MAPK9_ENST00000343111.6_Missense_Mutation_p.R192Q|MAPK9_ENST00000425491.2_Missense_Mutation_p.R192Q|MAPK9_ENST00000393360.3_Missense_Mutation_p.R192Q|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.R192Q			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.R192L(4)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGGGCGCCCGGTAGTACCG	0.552																																																4	Substitution - Missense(4)	lung(4)											218	230	226					5																	179676014		2203	4300	6503	SO:0001583	missense	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.575G>A	5.37:g.179676014C>T	ENSP00000394560:p.Arg192Gln		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870126	0.91587	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.59	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070647	0.56097	D	0.000024	D	0.90909	0.7143	M	0.85777	2.775	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.866;0.993;0.98;0.998	D;B;P;B;P	0.65233	0.933;0.309;0.504;0.4;0.869	D	0.92319	0.5864	10	0.87932	D	0	-8.9828	14.4306	0.67246	0.0:0.9295:0.0:0.0705	.	192;192;192;192;192	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	Q	192	ENSP00000394560:R192Q;ENSP00000377028:R192Q;ENSP00000389338:R192Q;ENSP00000345524:R192Q;ENSP00000321410:R192Q;ENSP00000397422:R192Q;ENSP00000443149:R192Q	ENSP00000345524:R192Q	R	-	2	0	MAPK9	179608620	1.000000	0.71417	0.977000	0.42913	0.498000	0.33706	7.711000	0.84669	1.376000	0.46267	0.650000	0.86243	CGG		0.552	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			T	179676014	C	T	179676014	3	4	329	1	0	0	0	0	1	0	0	0	9289	652	23	1	849	1	MAPK9	5	179676014	Missense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10	4369057	179676014	1239246	23	19265											
RIOK1	83732	hgsc.bcm.edu;ucsc.edu	37	6	7405162	7405162	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr6:7405162G>T	ENST00000379834.2	+	11	1511	c.1004G>T	c.(1003-1005)gGa>gTa	p.G335V		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	335	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TACCACGGTGGAGGCGTGTAT	0.458																																																0													86	71	76					6																	7405162		2203	4300	6503	SO:0001583	missense	83732			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1004G>T	6.37:g.7405162G>T	ENSP00000369162:p.Gly335Val		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647757	0.87958	.	.	ENSG00000124784	ENST00000379834	T	0.08896	3.04	5.7	5.7	0.88788	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	M	0.92784	3.345	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	T	0.41342	-0.9514	10	0.87932	D	0	-27.0129	18.8353	0.92159	0.0:0.0:1.0:0.0	.	335	Q9BRS2	RIOK1_HUMAN	V	335	ENSP00000369162:G335V	ENSP00000369162:G335V	G	+	2	0	RIOK1	7350161	1.000000	0.71417	0.146000	0.22360	0.062000	0.15995	9.595000	0.98260	2.688000	0.91661	0.655000	0.94253	GGA		0.458	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		T	7405162	G	T	7405162	3	4	329	1	0	0	0	0	1	0	0	0	13383	1174	41	4	1046	4	RIOK1	6	7405162	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10		7405162	163709905	24	19266											
UBAP2	55833	hgsc.bcm.edu	37	9	33986810	33986810	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr9:33986810A>T	ENST00000379239.4	-	0	431				UBAP2_ENST00000379238.1_Missense_Mutation_p.D156E|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Missense_Mutation_p.D156E|UBAP2_ENST00000360802.1_Missense_Mutation_p.D156E|UBAP2_ENST00000449054.1_Missense_Mutation_p.D156E	NM_001282529.1	NP_001269458.1			ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTTGATTGCAATCAATTCCAT	0.413																																																0													240	243	242					9																	33986810		2203	4300	6503			55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379239.4:c.-107T>A	9.37:g.33986810A>T				Missense_Mutation	SNP	ENST00000379239.4	37		.	.	.	.	.	.	.	.	.	.	A	17.81	3.481065	0.63849	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.45	0.162	0.14981	.	0.097410	0.64402	D	0.000002	T	0.33265	0.0857	L	0.46947	1.48	0.45378	D	0.998364	P;D;P;D;P	0.63046	0.911;0.992;0.911;0.986;0.714	P;P;B;P;B	0.60415	0.553;0.874;0.355;0.751;0.406	T	0.02450	-1.1157	10	0.41790	T	0.15	-15.4385	9.2541	0.37573	0.4751:0.0:0.5249:0.0	.	156;81;118;81;156	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	E	156;156;156;118;96;156;156;32	ENSP00000368540:D156E;ENSP00000416932:D156E;ENSP00000354039:D156E;ENSP00000404436:D156E;ENSP00000414800:D156E	ENSP00000354039:D156E	D	-	3	2	UBAP2	33976810	0.985000	0.35326	0.997000	0.53966	0.885000	0.51271	0.835000	0.27531	0.036000	0.15547	0.459000	0.35465	GAT		0.413	UBAP2-202	KNOWN	basic	protein_coding	protein_coding		NM_018449		T	33986810	A	T	33986810	1	4	329	1	0	1	0	0	0	0	0	0	16842	98	4	5		5	UBAP2	9	33986810	De_novo_Start_OutOfFrame	SNP	A	TCGA-BP-4329-01A-02D-1366-10		33986810	107226621	25	19267											
RORB	6096	hgsc.bcm.edu;ucsc.edu	37	9	77282715	77282715	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr9:77282715G>A	ENST00000396204.2	+	8	1042	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	RORB_ENST00000376896.3_Missense_Mutation_p.D337N			Q92753	RORB_HUMAN	RAR-related orphan receptor B	348	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D337Y(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AGGTTCTGATGACCTAGTGAA	0.378																																																1	Substitution - Missense(1)	lung(1)											152	136	142					9																	77282715		2203	4300	6503	SO:0001583	missense	6096			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1042G>A	9.37:g.77282715G>A	ENSP00000379507:p.Asp348Asn		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37		.	.	.	.	.	.	.	.	.	.	G	36	5.702952	0.96812	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.96967	-4.19;-4.19	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.043116	0.85682	D	0.000000	D	0.98049	0.9357	M	0.82433	2.59	0.80722	D	1	D;B	0.62365	0.991;0.053	P;B	0.62014	0.897;0.105	D	0.97000	0.9728	10	0.37606	T	0.19	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	348;337	Q92753;Q58EY0	RORB_HUMAN;.	N	337;348	ENSP00000366093:D337N;ENSP00000379507:D348N	ENSP00000366093:D337N	D	+	1	0	RORB	76472535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.775000	0.98995	2.941000	0.99782	0.655000	0.94253	GAC		0.378	RORB-201	KNOWN	basic	protein_coding	protein_coding				A	77282715	G	A	77282715	3	1	329	1	0	0	0	0	1	0	0	0	13535	1290	45	2	1039	2	RORB	9	77282715	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10	43295905	77282715	63930716	26	19268											
GLE1	2733	hgsc.bcm.edu	37	9	131267089	131267089	+	Missense_Mutation	SNP	C	C	G	rs150246404	byFrequency	TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr9:131267089C>G	ENST00000309971.4	+	1	111	c.5C>G	c.(4-6)cCg>cGg	p.P2R	GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Missense_Mutation_p.P2R	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	2	Interaction with NUP155.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CCAACCATGCCGTCTGAGGGT	0.637													C|||	2	0.000399361	0.0	0.0	5008	,	,		16096	0.0		0.002	False		,,,				2504	0.0															0								C	ARG/PRO,ARG/PRO	0,4406		0,0,2203	78	74	75		5,5	4.3	1	9	dbSNP_134	75	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	GLE1	NM_001003722.1,NM_001499.2	103,103	0,6,6497	GG,GC,CC		0.0698,0.0,0.0461	probably-damaging,probably-damaging	2/699,2/660	131267089	6,13000	2203	4300	6503	SO:0001583	missense	2733			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.5C>G	9.37:g.131267089C>G	ENSP00000308622:p.Pro2Arg		O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906407	0.72868	0.0	6.98E-4	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.71222	-0.55;-0.14	5.21	4.31	0.51392	.	0.225709	0.44688	D	0.000432	T	0.66703	0.2816	M	0.66939	2.045	0.80722	D	1	B;B	0.24823	0.068;0.112	B;B	0.24974	0.026;0.057	T	0.67385	-0.5684	10	0.72032	D	0.01	-20.6583	8.6968	0.34301	0.1837:0.6617:0.1546:0.0	.	2;2	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	R	2	ENSP00000308622:P2R;ENSP00000361856:P2R	ENSP00000308622:P2R	P	+	2	0	GLE1	130306910	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.679000	0.54634	1.423000	0.47198	0.561000	0.74099	CCG		0.637	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		G	131267089	C	G	131267089	3	3	329	1	0	0	0	0	1	0	0	0	6437	652	23	4	7	4	GLE1	9	131267089	Missense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10	53984374	131267089	9946342	27	19269											
NOTCH1	4851	hgsc.bcm.edu	37	9	139399349	139399349	+	Silent	SNP	G	G	A	rs558708604		TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr9:139399349G>A	ENST00000277541.6	-	26	4869	c.4794C>T	c.(4792-4794)cgC>cgT	p.R1598R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1598					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGTGCAGCACGCGGCTGAGCT	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													17	23	21					9																	139399349		2158	4262	6420	SO:0001819	synonymous_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4794C>T	9.37:g.139399349G>A			Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1																																																																																				0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		A	139399349	G	A	139399349	2	1	329	1	0	0	0	0	0	0	0	1	10549	1074	38	1		1	NOTCH1	9	139399349	Silent	SNP	G	TCGA-BP-4329-01A-02D-1366-10	8132260	139399349	1814082	28	19270											
SFXN4	119559	hgsc.bcm.edu;ucsc.edu	37	10	120900791	120900791	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr10:120900791G>C	ENST00000355697.2	-	14	996	c.977C>G	c.(976-978)aCa>aGa	p.T326R	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.T317R	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	326					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TGTTTCTTCTGTTGGAGACTG	0.368																																																0													153	159	157					10																	120900791		2203	4300	6503	SO:0001583	missense	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.977C>G	10.37:g.120900791G>C	ENSP00000347924:p.Thr326Arg		Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889978	0.72524	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875	T;T	0.29142	1.58;1.58	4.95	4.95	0.65309	.	0.141721	0.46758	D	0.000272	T	0.41673	0.1169	M	0.71581	2.175	0.53005	D	0.999968	P	0.48503	0.911	P	0.49752	0.621	T	0.26503	-1.0101	10	0.11182	T	0.66	-21.8686	16.7538	0.85494	0.0:0.0:1.0:0.0	.	326	Q6P4A7	SFXN4_HUMAN	R	326;317;209	ENSP00000347924:T326R;ENSP00000333200:T317R	ENSP00000333200:T317R	T	-	2	0	SFXN4	120890781	1.000000	0.71417	0.109000	0.21407	0.060000	0.15804	5.979000	0.70508	2.469000	0.83416	0.650000	0.86243	ACA		0.368	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		C	120900791	G	C	120900791	3	2	329	1	0	0	0	0	1	0	0	0	14203	1377	48	4	40	4	SFXN4	10	120900791	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10		120900791	14633956	29	19271											
ECHS1	1892	hgsc.bcm.edu;ucsc.edu	37	10	135179506	135179506	+	Missense_Mutation	SNP	G	G	T	rs200584793		TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr10:135179506G>T	ENST00000368547.3	-	6	1068	c.713C>A	c.(712-714)gCg>gAg	p.A238E		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	238					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TTTGGCCATCGCTACTACAAT	0.488																																					GBM(132;1720 1771 5373 10277 21402)											0													214	178	191					10																	135179506		2202	4300	6502	SO:0001583	missense	1892				CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.713C>A	10.37:g.135179506G>T	ENSP00000357535:p.Ala238Glu		O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038560	0.19669	.	.	ENSG00000127884	ENST00000368547	T	0.69561	-0.41	5.39	4.43	0.53597	Crontonase, C-terminal (1);	0.161207	0.53938	D	0.000045	T	0.61553	0.2356	L	0.49640	1.575	0.21915	N	0.999471	B	0.32862	0.387	B	0.36186	0.219	T	0.59521	-0.7439	10	0.51188	T	0.08	.	11.9997	0.53224	0.0:0.0:0.8277:0.1723	.	238	P30084	ECHM_HUMAN	E	238	ENSP00000357535:A238E	ENSP00000357535:A238E	A	-	2	0	ECHS1	135029496	0.980000	0.34600	0.044000	0.18714	0.017000	0.09413	3.820000	0.55693	2.701000	0.92244	0.555000	0.69702	GCG		0.488	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			T	135179506	G	T	135179506	3	4	329	1	0	0	0	0	1	0	0	0	4898	1087	38	4	171	4	ECHS1	10	135179506	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10	14278715	135179506	355241	30	19272											
LRRC55	219527	hgsc.bcm.edu	37	11	56950122	56950122	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr11:56950122A>C	ENST00000497933.1	+	1	902	c.755A>C	c.(754-756)aAg>aCg	p.K252T		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	222	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCCCTGCTGAAGTGGCTGCGA	0.617																																																0													86	81	83					11																	56950122		2201	4296	6497	SO:0001583	missense	219527				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.755A>C	11.37:g.56950122A>C	ENSP00000419542:p.Lys252Thr		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384572	0.42308	.	.	ENSG00000183908	ENST00000497933	T	0.02323	4.34	5.53	4.37	0.52481	Cysteine-rich flanking region, C-terminal (1);	0.098264	0.45126	N	0.000397	T	0.02156	0.0067	N	0.05351	-0.065	0.33143	D	0.544668	B	0.22003	0.063	B	0.30495	0.116	T	0.39313	-0.9620	10	0.20519	T	0.43	.	11.5956	0.50970	0.8504:0.1496:0.0:0.0	.	222	Q6ZSA7	LRC55_HUMAN	T	252	ENSP00000419542:K252T	ENSP00000419542:K252T	K	+	2	0	LRRC55	56706698	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.243000	0.51392	0.898000	0.36418	0.459000	0.35465	AAG		0.617	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		C	56950122	A	C	56950122	3	2	329	1	0	0	0	0	1	0	0	0	9013	72	3	5	757	5	LRRC55	11	56950122	Missense_Mutation	SNP	A	TCGA-BP-4329-01A-02D-1366-10		56950122	78056394	31	19273											
PDZRN4	29951	hgsc.bcm.edu	37	12	41966392	41966392	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr12:41966392A>T	ENST00000402685.2	+	10	1819	c.1811A>T	c.(1810-1812)gAg>gTg	p.E604V	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E346V|PDZRN4_ENST00000298919.7_Missense_Mutation_p.E344V	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	604							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAGTACAATGAGAGCCTCGTA	0.488																																																0													83	82	83					12																	41966392		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1811A>T	12.37:g.41966392A>T	ENSP00000384197:p.Glu604Val		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820571	0.50633	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.74842	-0.88;3.62;3.62	4.64	4.64	0.57946	.	0.155766	0.43416	D	0.000576	T	0.74989	0.3789	L	0.50333	1.59	0.51767	D	0.999937	D;P;P	0.56521	0.976;0.921;0.507	P;P;B	0.49140	0.601;0.543;0.444	T	0.78628	-0.2130	10	0.62326	D	0.03	-18.7853	14.7814	0.69769	1.0:0.0:0.0:0.0	.	604;344;346	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	V	604;346;344	ENSP00000384197:E604V;ENSP00000439990:E346V;ENSP00000298919:E344V	ENSP00000298919:E344V	E	+	2	0	PDZRN4	40252659	1.000000	0.71417	0.518000	0.27811	0.752000	0.42762	3.834000	0.55798	2.049000	0.60858	0.528000	0.53228	GAG		0.488	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		T	41966392	A	T	41966392	3	4	329	1	0	0	0	0	1	0	0	0	11712	304	11	5	1922	5	PDZRN4	12	41966392	Missense_Mutation	SNP	A	TCGA-BP-4329-01A-02D-1366-10		41966392	91885503	32	19274											
OAS3	4940	hgsc.bcm.edu;ucsc.edu	37	12	113405908	113405908	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr12:113405908C>G	ENST00000228928.7	+	14	3212	c.3033C>G	c.(3031-3033)taC>taG	p.Y1011*	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1011	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TCTGTATCTACTGGACCATCA	0.562																																																0													58	59	59					12																	113405908		1966	4152	6118	SO:0001587	stop_gained	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.3033C>G	12.37:g.113405908C>G	ENSP00000228928:p.Tyr1011*		Q2HJ14|Q9H3P5	Nonsense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	38	6.865408	0.97897	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	.	.	.	4.88	3.99	0.46301	.	0.000000	0.31542	U	0.007475	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6102	0.33797	0.0:0.8965:0.0:0.1035	.	.	.	.	X	1011;1010	.	ENSP00000228928:Y1011X	Y	+	3	2	OAS3	111890291	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	0.877000	0.28106	1.261000	0.44149	0.655000	0.94253	TAC		0.562	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			G	113405908	C	G	113405908	4	3	329	1	0	0	0	0	0	1	0	0	10803	576	20	4	3087	4	OAS3	12	113405908	Nonsense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10	71439516	113405908	20445987	33	19275											
MAP4K5	11183	hgsc.bcm.edu;ucsc.edu	37	14	50952347	50952348	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr14:50952347_50952348delAT	ENST00000013125.4	-	5	588_589	c.270_271delAT	c.(268-273)ctatggfs	p.W91fs	MAP4K5_ENST00000557578.1_5'UTR	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	91	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ATACAAATCCATAGTTTTTCCC	0.322																																																0																																										SO:0001589	frameshift_variant	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.270_271delAT	14.37:g.50952347_50952348delAT	ENSP00000013125:p.Trp91fs		Q8IYF6	Frame_Shift_Del	DEL	ENST00000013125.4	37																																																																																					0.322	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		-	50952348	AT	-	50952347	7	5	329	1	0	1	0	1	0	0	0	0	9265	217	8	0	2381	0	MAP4K5	14	50952347	Frame_Shift_Del	DEL	AT	TCGA-BP-4329-01A-02D-1366-10		50952347	56397193	34	19276											
SGK269	79834	hgsc.bcm.edu;ucsc.edu	37	15	77407312	77407312	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr15:77407312C>T	ENST00000560626.2	-	7	4902	c.4427G>A	c.(4426-4428)cGa>cAa	p.R1476Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1476Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CAGAGAGTCTCGCACAAAATC	0.522																																																0													103	103	103					15																	77407312		2124	4224	6348	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4427G>A	15.37:g.77407312C>T	ENSP00000452796:p.Arg1476Gln		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378750	0.42207	.	.	ENSG00000173517	ENST00000312493	T	0.73681	-0.77	5.14	2.07	0.26955	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.209842	0.27971	N	0.017106	T	0.68284	0.2984	M	0.62723	1.935	0.38848	D	0.95621	B	0.16603	0.018	B	0.17098	0.017	T	0.62756	-0.6787	10	0.51188	T	0.08	-5.9836	9.0784	0.36536	0.0:0.6898:0.0:0.3102	.	1476	Q9H792	PEAK1_HUMAN	Q	1476	ENSP00000309230:R1476Q	ENSP00000309230:R1476Q	R	-	2	0	AC087465.1	75194367	0.257000	0.24022	0.949000	0.38748	0.863000	0.49368	0.889000	0.28282	0.145000	0.18977	0.561000	0.74099	CGA		0.522	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			T	77407312	C	T	77407312	3	4	329	1	0	0	0	0	1	0	0	0	14217	884	31	1	817	1	SGK269	15	77407312	Missense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10		77407312	25124080	35	19277											
RASGRF1	5923	hgsc.bcm.edu;ucsc.edu	37	15	79317727	79317727	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr15:79317727G>C	ENST00000419573.3	-	10	1745	c.1471C>G	c.(1471-1473)Cag>Gag	p.Q491E	RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q491E|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	491	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGAAGCACTGTCGCTCGCCC	0.562																																																0													79	78	78					15																	79317727		2196	4293	6489	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1471C>G	15.37:g.79317727G>C	ENSP00000405963:p.Gln491Glu		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186738	0.78789	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.29397	1.57	4.36	4.36	0.52297	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.55893	0.1949	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.69078	0.997;0.993;0.993;0.992	D;P;P;D	0.69307	0.963;0.9;0.9;0.932	T	0.62613	-0.6817	10	0.66056	D	0.02	.	14.4585	0.67433	0.0:0.0:1.0:0.0	.	491;491;491;491	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	E	491	ENSP00000405963:Q491E	ENSP00000378224:Q491E	Q	-	1	0	RASGRF1	77104782	1.000000	0.71417	0.966000	0.40874	0.927000	0.56198	9.378000	0.97191	2.241000	0.73720	0.585000	0.79938	CAG		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		C	79317727	G	C	79317727	3	2	329	1	0	0	0	0	1	0	0	0	13078	1386	48	4	2426	4	RASGRF1	15	79317727	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10	1910415	79317727	23213665	36	19278											
GLG1	2734	hgsc.bcm.edu;ucsc.edu	37	16	74506246	74506246	+	Splice_Site	SNP	C	C	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr16:74506246C>T	ENST00000422840.2	-	14	2115		c.e14+1		GLG1_ENST00000447066.2_Splice_Site|GLG1_ENST00000205061.5_Splice_Site	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1						blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACATCACTTACGTGGCAGAAG	0.408																																																0													109	105	106					16																	74506246		2198	4300	6498	SO:0001630	splice_region_variant	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2115+1G>A	16.37:g.74506246C>T			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Splice_Site	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522361	0.64747	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLG1	73063747	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	7.417000	0.80156	2.728000	0.93425	0.591000	0.81541	.		0.408	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	Intron	T	74506246	C	T	74506246	5	4	329	1	0	0	0	0	0	0	1	0	6438	550	19	1	1555	1	GLG1	16	74506246	Splice_Site	SNP	C	TCGA-BP-4329-01A-02D-1366-10		74506246	15848507	37	19279											
PKD1L2	114780	hgsc.bcm.edu;ucsc.edu	37	16	81232574	81232574	+	RNA	SNP	T	T	C			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr16:81232574T>C	ENST00000525539.1	-	0	1235				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTGGGTTTCTCTGTCCAGGA	0.542																																																0													127	129	128					16																	81232574		1966	4151	6117			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232574T>C			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37																																																																																					0.542	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			C	81232574	T	C	81232574	1	2	329	0	1	0	0	0	0	0	0	0	11967	1548	54	3		3	PKD1L2	16	81232574	RNA	SNP	T	TCGA-BP-4329-01A-02D-1366-10	6726328	81232574	9122179	38	19280											
GALNS	2588	hgsc.bcm.edu;ucsc.edu	37	16	88908325	88908325	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr16:88908325G>T	ENST00000268695.5	-	3	387	c.299C>A	c.(298-300)aCc>aAc	p.T100N	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	100	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		ATGGGCGTTGGTGGTGTAGAA	0.627																																					GBM(129;1929 2344 25209 33204)											0													157	109	125					16																	88908325		2194	4300	6494	SO:0001583	missense	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.299C>A	16.37:g.88908325G>T	ENSP00000268695:p.Thr100Asn		Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.618854|2.618854	0.46736|0.46736	.|.	.|.	ENSG00000141012|ENSG00000141012	ENST00000439266|ENST00000268695	.|D	.|0.91295	.|-2.82	5.24|5.24	4.28|4.28	0.50868|0.50868	.|Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91157|0.91157	0.7215|0.7215	L|L	0.39467|0.39467	1.215|1.215	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|P;P	.|0.61275	.|0.886;0.886	D|D	0.88175|0.88175	0.2867|0.2867	6|10	0.87932|0.13108	D|T	0|0.6	.|.	16.2479|16.2479	0.82454|0.82454	0.0:0.1329:0.8671:0.0|0.0:0.1329:0.8671:0.0	.|.	.|100;100	.|B2R6P1;P34059	.|.;GALNS_HUMAN	T|N	59|100	.|ENSP00000268695:T100N	ENSP00000402127:P59T|ENSP00000268695:T100N	P|T	-|-	1|2	0|0	GALNS|GALNS	87435826|87435826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	7.707000|7.707000	0.84623|0.84623	1.342000|1.342000	0.45619|0.45619	0.561000|0.561000	0.74099|0.74099	CCA|ACC		0.627	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			T	88908325	G	T	88908325	3	4	329	1	0	0	0	0	1	0	0	0	6208	1261	44	4	1317	4	GALNS	16	88908325	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10	7675751	88908325	1446428	39	19281											
SLC46A1	113235	hgsc.bcm.edu;ucsc.edu	37	17	26727778	26727778	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr17:26727778G>T	ENST00000440501.1	-	4	1266	c.1171C>A	c.(1171-1173)Ctc>Atc	p.L391I	SARM1_ENST00000457710.3_3'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.L363I	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	391					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GCAGAAAAGAGAGCACCTGTG	0.522																																																0													33	39	37					17																	26727778		2063	4197	6260	SO:0001583	missense	113235			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"Solute carriers"	30521	protein-coding gene	gene with protein product	"heme carrier protein 1", "proton-coupled folate transporter"	611672	"solute carrier family 46, member 1"			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1171C>A	17.37:g.26727778G>T	ENSP00000395653:p.Leu391Ile		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37		.	.	.	.	.	.	.	.	.	.	G	19.05	3.751470	0.69533	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;D	0.81739	0.42;-1.53	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.123066	0.53938	D	0.000059	D	0.83330	0.5231	.	.	.	0.58432	D	0.999997	P;D	0.69078	0.89;0.997	P;D	0.63957	0.503;0.92	T	0.78259	-0.2273	9	0.11485	T	0.65	-25.1598	12.7867	0.57510	0.0747:0.0:0.9253:0.0	.	363;391	Q96NT5-2;Q96NT5	.;PCFT_HUMAN	I	391;363	ENSP00000395653:L391I;ENSP00000318828:L363I	ENSP00000318828:L363I	L	-	1	0	SLC46A1	23751905	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.779000	0.55379	2.623000	0.88846	0.563000	0.77884	CTC		0.522	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		T	26727778	G	T	26727778	3	4	329	1	0	0	0	0	1	0	0	0	14650	942	33	4	217	4	SLC46A1	17	26727778	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10		26727778	54467432	40	19282											
B4GALNT2	124872	hgsc.bcm.edu	37	17	47246988	47246988	+	Silent	SNP	C	C	A			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr17:47246988C>A	ENST00000300404.2	+	11	1658	c.1599C>A	c.(1597-1599)gcC>gcA	p.A533A	B4GALNT2_ENST00000393354.2_Silent_p.A473A|RP11-708H21.4_ENST00000575159.1_lincRNA|B4GALNT2_ENST00000504681.1_Silent_p.A447A	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	533					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AACTGGCTGCCCTAGAGAAGA	0.542																																					GBM(124;244 1635 8663 18097 33175)											0													96	87	90					17																	47246988		2203	4300	6503	SO:0001819	synonymous_variant	124872			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1599C>A	17.37:g.47246988C>A			B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	CCDS11544.1																																																																																				0.542	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		A	47246988	C	A	47246988	2	1	329	1	0	0	0	0	0	0	0	1	1267	610	22	4		4	B4GALNT2	17	47246988	Silent	SNP	C	TCGA-BP-4329-01A-02D-1366-10	20519210	47246988	33948222	41	19283											
GRB2	2885	hgsc.bcm.edu	37	17	73316550	73316550	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr17:73316550C>T	ENST00000392562.1	-	6	1335	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	GRB2_ENST00000578961.1_Missense_Mutation_p.M128I|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316804.5_Missense_Mutation_p.V185I|GRB2_ENST00000392563.1_Missense_Mutation_p.V144I|GRB2_ENST00000392564.1_Missense_Mutation_p.V185I|GRB2_ENST00000316615.5_Missense_Mutation_p.V144I			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	185	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTATCCATGACATGGATAAAA	0.562																																																0													110	116	114					17																	73316550		2203	4300	6503	SO:0001583	missense	2885				CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"SH2 domain containing"	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.553G>A	17.37:g.73316550C>T	ENSP00000376345:p.Val185Ile		P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201225	0.79015	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.45	5.45	0.79879	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	L	0.49350	1.555	0.80722	D	1	P;P	0.41475	0.751;0.59	B;P	0.49887	0.426;0.625	T	0.57412	-0.7816	10	0.42905	T	0.14	-34.617	19.4688	0.94954	0.0:1.0:0.0:0.0	.	144;185	P62993-2;P62993	.;GRB2_HUMAN	I	185;185;185;144;144	ENSP00000339007:V185I;ENSP00000376345:V185I;ENSP00000376347:V185I;ENSP00000376346:V144I;ENSP00000317360:V144I	ENSP00000317360:V144I	V	-	1	0	GRB2	70828145	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.892000	0.69790	2.838000	0.97847	0.561000	0.74099	GTC		0.562	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			T	73316550	C	T	73316550	3	4	329	1	0	0	0	0	1	0	0	0	6760	478	17	2	104	2	GRB2	17	73316550	Missense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10	26069562	73316550	7878660	42	19284											
DTNA	1837	hgsc.bcm.edu	37	18	32431802	32431802	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr18:32431802C>T	ENST00000399113.3	+	14	1361	c.1361C>T	c.(1360-1362)cCt>cTt	p.P454L	DTNA_ENST00000348997.5_Missense_Mutation_p.P451L|DTNA_ENST00000597599.1_Missense_Mutation_p.P394L|DTNA_ENST00000601125.1_Missense_Mutation_p.P76L|DTNA_ENST00000598774.1_Missense_Mutation_p.P397L|DTNA_ENST00000591182.1_Missense_Mutation_p.P102L|DTNA_ENST00000269190.7_Missense_Mutation_p.P455L|DTNA_ENST00000598334.1_Missense_Mutation_p.P394L|DTNA_ENST00000597674.1_Missense_Mutation_p.P76L|DTNA_ENST00000283365.9_Missense_Mutation_p.P397L|DTNA_ENST00000399121.5_Missense_Mutation_p.P394L|DTNA_ENST00000596745.1_Missense_Mutation_p.P204L|DTNA_ENST00000269191.6_Missense_Mutation_p.P454L|DTNA_ENST00000269192.7_Missense_Mutation_p.P163L|DTNA_ENST00000599844.1_Missense_Mutation_p.P76L|DTNA_ENST00000598142.1_Missense_Mutation_p.P397L|DTNA_ENST00000444659.1_Missense_Mutation_p.P454L|DTNA_ENST00000556414.3_Missense_Mutation_p.P106L|DTNA_ENST00000595022.1_Missense_Mutation_p.P394L|DTNA_ENST00000399097.3_Missense_Mutation_p.P102L			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	454					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CAGCAGCCACCTCAGCAGAGA	0.423																																																0													70	63	65					18																	32431802		2203	4300	6503	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1361C>T	18.37:g.32431802C>T	ENSP00000382064:p.Pro454Leu		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	9.024	0.985512	0.18889	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T	0.18338	2.23;2.22;2.24;2.22;2.23;2.22	5.67	4.8	0.61643	.	1.051700	0.07328	N	0.878760	T	0.14098	0.0341	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.15719	0.0;0.0;0.002;0.005;0.001;0.0;0.008;0.0;0.0;0.002;0.014;0.0;0.0;0.0;0.004	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.15052	0.003;0.001;0.002;0.007;0.004;0.004;0.012;0.0;0.0;0.007;0.012;0.0;0.0;0.0;0.004	T	0.35724	-0.9777	10	0.14656	T	0.56	0.0019	18.437	0.90650	0.0:0.7787:0.2213:0.0	.	106;163;144;204;76;454;454;394;397;102;451;394;405;397;397	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	L	397;397;394;455;102;451;454;454;454;454;163;102;106	ENSP00000283365:P397L;ENSP00000269190:P455L;ENSP00000336682:P451L;ENSP00000405819:P454L;ENSP00000269191:P454L;ENSP00000382064:P454L	ENSP00000269190:P455L	P	+	2	0	DTNA	30685800	0.263000	0.24083	0.098000	0.21074	0.930000	0.56654	1.472000	0.35376	1.386000	0.46466	0.655000	0.94253	CCT		0.423	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		T	32431802	C	T	32431802	3	4	329	1	0	0	0	0	1	0	0	0	4790	681	24	2	1450	2	DTNA	18	32431802	Missense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10		32431802	45645446	43	19285											
HAUS1	115106	hgsc.bcm.edu;ucsc.edu	37	18	43708041	43708041	+	Splice_Site	SNP	G	G	A			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr18:43708041G>A	ENST00000282058.6	+	9	867	c.787G>A	c.(787-789)Gat>Aat	p.D263N	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_3'UTR	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	263					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTTCCTGTAGGATAGCATTGA	0.318																																					NSCLC(79;183 1423 5813 15597 38427)											0													98	84	89					18																	43708041		2203	4299	6502	SO:0001630	splice_region_variant	115106			AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"HAUS augmin-like complex subunits"	25174	protein-coding gene	gene with protein product		608775	"coiled-coil domain containing 5 (spindle associated)"	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.787-1G>A	18.37:g.43708041G>A			B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	G	5.840	0.339276	0.11069	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.06	3.93	0.45458	.	0.257668	0.44097	D	0.000492	T	0.25044	0.0608	N	0.16066	0.365	0.34416	D	0.696915	B	0.09022	0.002	B	0.09377	0.004	T	0.22977	-1.0201	8	.	.	.	-11.8307	6.3736	0.21495	0.1629:0.0:0.8371:0.0	.	263	Q96CS2	HAUS1_HUMAN	N	263	.	.	D	+	1	0	HAUS1	41962039	1.000000	0.71417	0.993000	0.49108	0.336000	0.28762	1.921000	0.40035	2.504000	0.84457	0.585000	0.79938	GAT		0.318	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443	Missense_Mutation	A	43708041	G	A	43708041	5	1	329	1	0	0	0	0	0	0	1	0	6967	1188	41	2	821	2	HAUS1	18	43708041	Splice_Site	SNP	G	TCGA-BP-4329-01A-02D-1366-10	11276239	43708041	34369207	44	19286											
CNDP1	84735	hgsc.bcm.edu;ucsc.edu	37	18	72234508	72234508	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr18:72234508A>G	ENST00000358821.3	+	6	824	c.596A>G	c.(595-597)gAa>gGa	p.E199G	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Missense_Mutation_p.E156G	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	199						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GAGGGGATGGAAGAGGCTGGC	0.433																																					Melanoma(32;1029 1042 25286 38395 44237)											0													104	116	112					18																	72234508		2203	4300	6503	SO:0001583	missense	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.596A>G	18.37:g.72234508A>G	ENSP00000351682:p.Glu199Gly		Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699706	0.88830	.	.	ENSG00000150656	ENST00000358821	D	0.98550	-4.99	5.31	5.31	0.75309	ArgE/DapE/ACY1/CPG2/YscS, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98130	1.0430	10	0.87932	D	0	-37.3488	14.9158	0.70795	1.0:0.0:0.0:0.0	.	199	Q96KN2	CNDP1_HUMAN	G	199	ENSP00000351682:E199G	ENSP00000351682:E199G	E	+	2	0	CNDP1	70385488	1.000000	0.71417	0.936000	0.37596	0.952000	0.60782	8.613000	0.90913	2.005000	0.58758	0.477000	0.44152	GAA		0.433	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		G	72234508	A	G	72234508	3	3	329	1	0	0	0	0	1	0	0	0	3595	246	9	3	618	3	CNDP1	18	72234508	Missense_Mutation	SNP	A	TCGA-BP-4329-01A-02D-1366-10	28526467	72234508	5842740	45	19287											
AP3D1	8943	hgsc.bcm.edu;ucsc.edu	37	19	2121803	2121803	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr19:2121803A>G	ENST00000345016.5	-	12	1262	c.1031T>C	c.(1030-1032)cTc>cCc	p.L344P	AP3D1_ENST00000355272.6_Missense_Mutation_p.L344P|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000356926.4_Missense_Mutation_p.L253P|AP3D1_ENST00000350812.6_Missense_Mutation_p.L175P	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	344					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCAGGATGAGGTCCTTGTG	0.652																																																0													120	137	132					19																	2121803		2137	4215	6352	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1031T>C	19.37:g.2121803A>G	ENSP00000344055:p.Leu344Pro		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547530	0.86022	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	4.39	4.39	0.52855	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.986;0.996;0.998	T	0.75199	-0.3402	10	0.87932	D	0	-37.0306	13.0686	0.59048	1.0:0.0:0.0:0.0	.	344;344;253	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	P	253;344;344;344;175	ENSP00000349398:L253P;ENSP00000344055:L344P;ENSP00000347416:L344P;ENSP00000342321:L175P	ENSP00000341579:L344P	L	-	2	0	AP3D1	2072803	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.067000	0.93955	1.759000	0.51996	0.379000	0.24179	CTC		0.652	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			G	2121803	A	G	2121803	3	3	329	1	0	0	0	0	1	0	0	0	746	304	11	3	2664	3	AP3D1	19	2121803	Missense_Mutation	SNP	A	TCGA-BP-4329-01A-02D-1366-10		2121803	57007180	46	19288											
ICAM1	3383	hgsc.bcm.edu	37	19	10394734	10394734	+	Silent	SNP	T	T	C			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr19:10394734T>C	ENST00000264832.3	+	4	988	c.663T>C	c.(661-663)ctT>ctC	p.L221L	ICAM4_ENST00000393717.2_5'Flank|ICAM1_ENST00000423829.2_Intron|ICAM4_ENST00000340992.4_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	221					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CCCCACAACTTGTCAGCCCCC	0.637																																																0													77	81	80					19																	10394734		2203	4300	6503	SO:0001819	synonymous_variant	3383				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.663T>C	19.37:g.10394734T>C			B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	CCDS12231.1																																																																																				0.637	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			C	10394734	T	C	10394734	2	2	329	1	0	0	0	0	0	0	0	1	7481	1799	63	3		3	ICAM1	19	10394734	Silent	SNP	T	TCGA-BP-4329-01A-02D-1366-10	8272931	10394734	48734249	47	19289											
NFKBIB	4793	hgsc.bcm.edu	37	19	39390845	39390845	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr19:39390845G>T	ENST00000313582.5	+	1	207	c.173G>T	c.(172-174)gGg>gTg	p.G58V	SIRT2_ENST00000249396.7_5'Flank|NFKBIB_ENST00000392079.3_Missense_Mutation_p.G45W|SIRT2_ENST00000481381.1_5'Flank|SIRT2_ENST00000358931.5_5'Flank|NFKBIB_ENST00000572515.1_Missense_Mutation_p.G58V|SIRT2_ENST00000392081.2_5'Flank	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	58					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACTGAGGATGGGGACACGTGA	0.637																																					Pancreas(165;1492 2005 6979 7739 34483)											0													15	17	17					19																	39390845		2202	4299	6501	SO:0001583	missense	4793			L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"Ankyrin repeat domain containing"	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.173G>T	19.37:g.39390845G>T	ENSP00000312988:p.Gly58Val		A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	CCDS12524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.24|18.24	3.579196|3.579196	0.65878|0.65878	.|.	.|.	ENSG00000104825|ENSG00000104825	ENST00000509705;ENST00000313582|ENST00000392079	T|T	0.69561|0.52057	-0.41|0.68	5.08|5.08	5.08|5.08	0.68730|0.68730	Ankyrin repeat-containing domain (3);|.	0.000000|0.000000	0.51477|0.51477	D|D	0.000089|0.000089	T|T	0.67915|0.67915	0.2944|0.2944	M|M	0.88377|0.88377	2.95|2.95	0.31050|0.31050	N|N	0.715329|0.715329	D;D|D	0.89917|0.63046	1.0;1.0|0.992	D;D|P	0.97110|0.56960	0.999;1.0|0.81	T|T	0.72906|0.72906	-0.4150|-0.4150	10|10	0.87932|0.37606	D|T	0|0.19	-26.6701|-26.6701	15.4937|15.4937	0.75632|0.75632	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81;58|45	Q59EM7;Q15653|G5E9C2	.;IKBB_HUMAN|.	V|W	81;58|45	ENSP00000312988:G58V|ENSP00000375929:G45W	ENSP00000312988:G58V|ENSP00000375929:G45W	G|G	+|+	2|1	0|0	NFKBIB|NFKBIB	44082685|44082685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.302000|5.302000	0.65733|0.65733	2.663000|2.663000	0.90544|0.90544	0.609000|0.609000	0.83330|0.83330	GGG|GGG		0.637	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		T	39390845	G	T	39390845	3	4	329	1	0	0	0	0	1	0	0	0	10380	1232	43	4	175	4	NFKBIB	19	39390845	Missense_Mutation	SNP	G	TCGA-BP-4329-01A-02D-1366-10	28996111	39390845	19738138	48	19290											
SEC14L4	284904	hgsc.bcm.edu;ucsc.edu	37	22	30888522	30888522	+	Silent	SNP	G	G	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chr22:30888522G>T	ENST00000255858.7	-	8	686	c.603C>A	c.(601-603)gcC>gcA	p.A201A	SEC14L4_ENST00000381982.3_Silent_p.A201A|SEC14L4_ENST00000540456.1_Silent_p.A186A|SEC14L4_ENST00000392772.2_Silent_p.A147A|RP4-539M6.14_ENST00000610156.1_RNA|RP4-539M6.14_ENST00000442126.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	201	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCAAGTTGAAGGCCACGGGGA	0.547																																																0													122	89	101					22																	30888522		2203	4300	6503	SO:0001819	synonymous_variant	284904			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.603C>A	22.37:g.30888522G>T			A5D6W7|A6NCV4	Silent	SNP	ENST00000255858.7	37	CCDS13878.1																																																																																				0.547	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		T	30888522	G	T	30888522	2	4	329	1	0	0	0	0	0	0	0	1	13990	987	35	4		4	SEC14L4	22	30888522	Silent	SNP	G	TCGA-BP-4329-01A-02D-1366-10		30888522	20416044	49	19291											
OGT	8473	hgsc.bcm.edu;ucsc.edu	37	X	70776831	70776831	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4329-01A-02D-1366-10	TCGA-BP-4329-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	755f62a8-13ea-4def-b5b6-14b536c56ec2	bf401206-d93e-41a9-9daf-42e565f5307d	g.chrX:70776831C>T	ENST00000373719.3	+	10	1413	c.1196C>T	c.(1195-1197)tCt>tTt	p.S399F	OGT_ENST00000373701.3_Missense_Mutation_p.S389F	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	399					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GATGCCTACTCTAATATGGGA	0.398																																																0													83	70	75					X																	70776831		2203	4299	6502	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1196C>T	X.37:g.70776831C>T	ENSP00000362824:p.Ser399Phe		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542218	0.85917	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.16743	2.32;2.32	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.06789	-1.0807	10	0.13108	T	0.6	.	18.0148	0.89236	0.0:1.0:0.0:0.0	.	273;389;399	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	F	399;389	ENSP00000362824:S399F;ENSP00000362805:S389F	ENSP00000362805:S389F	S	+	2	0	OGT	70693556	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.594000	0.82698	2.445000	0.82738	0.594000	0.82650	TCT		0.398	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		T	70776831	C	T	70776831	3	4	329	1	0	0	0	0	1	0	0	0	10849	913	32	2	1234	2	OGT	23	70776831	Missense_Mutation	SNP	C	TCGA-BP-4329-01A-02D-1366-10		70776831	84493729	50	19292											
PRAMEF12	390999	hgsc.bcm.edu	37	1	12837331	12837331	+	Missense_Mutation	SNP	G	G	T	rs200315960	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:12837331G>T	ENST00000357726.4	+	3	1068	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	347					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)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAAGCTGAGGCCACCCTGC	0.607																																																0													86	88	87					1																	12837331		2203	4300	6503	SO:0001583	missense	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1041G>T	1.37:g.12837331G>T	ENSP00000350358:p.Glu347Asp			Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	27	0.012362637362637362	1	0.0020325203252032522	2	0.0055248618784530384	15	0.026223776223776224	9	0.011873350923482849	.	11.30	1.598886	0.28445	.	.	ENSG00000116726	ENST00000357726	T	0.00932	5.53	2.83	-3.18	0.05186	.	0.449014	0.20900	N	0.083655	T	0.00271	0.0008	N	0.24115	0.695	0.09310	N	1	P	0.35456	0.502	B	0.37989	0.262	T	0.49184	-0.8966	10	0.87932	D	0	.	3.0889	0.06286	0.2966:0.0:0.3534:0.35	.	347	O95522	PRA12_HUMAN	D	347	ENSP00000350358:E347D	ENSP00000350358:E347D	E	+	3	2	PRAMEF12	12759918	0.000000	0.05858	0.003000	0.11579	0.072000	0.16883	-0.525000	0.06214	-0.706000	0.05028	0.205000	0.17691	GAG		0.607	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		T	12837331	G	T	12837331	3	4	330	1	0	0	0	0	1	0	0	0	12433	991	35	4	1051	4	PRAMEF12	1	12837331	Missense_Mutation	SNP	G	TCGA-BP-4330-01A-01D-1366-10		12837331	236413290	1	19293											
PRAMEF12	390999	hgsc.bcm.edu	37	1	12837664	12837664	+	Silent	SNP	C	C	T	rs201781857	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:12837664C>T	ENST00000357726.4	+	3	1401	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	458					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)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCTCGCTGTGGCATCA	0.517																																																0								C		1,4405		0,1,2202	107	109	108		1374	-3.4	0	1	dbSNP_134	108	29,8571		0,29,4271	no	coding-synonymous	PRAMEF12	NM_001080830.1		0,30,6473	TT,TC,CC		0.3372,0.0227,0.2307		458/484	12837664	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1374C>T	1.37:g.12837664C>T				Silent	SNP	ENST00000357726.4	37	CCDS41254.1																																																																																				0.517	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		T	12837664	C	T	12837664	2	4	330	1	0	0	0	0	0	0	0	1	12433	784	28	2		2	PRAMEF12	1	12837664	Silent	SNP	C	TCGA-BP-4330-01A-01D-1366-10	333	12837664	236412957	2	19294	155	2									
PRAMEF12	390999	hgsc.bcm.edu	37	1	12837669	12837669	+	Missense_Mutation	SNP	G	G	T	rs201008398	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:12837669G>T	ENST00000357726.4	+	3	1406	c.1379G>T	c.(1378-1380)gGc>gTc	p.G460V		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	460					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)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCGCTGTGGCATCAGGGCC	0.507																																																0								G	VAL/GLY	2,4404		0,2,2201	106	108	107		1379	-1.2	0	1		107	34,8566		0,34,4266	yes	missense	PRAMEF12	NM_001080830.1	109	0,36,6467	TT,TG,GG		0.3953,0.0454,0.2768	possibly-damaging	460/484	12837669	36,12970	2203	4300	6503	SO:0001583	missense	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1379G>T	1.37:g.12837669G>T	ENSP00000350358:p.Gly460Val			Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	21	0.009615384615384616	1	0.0020325203252032522	1	0.0027624309392265192	11	0.019230769230769232	8	0.010554089709762533	.	13.88	2.368037	0.42003	4.54E-4	0.003953	ENSG00000116726	ENST00000357726	T	0.62232	0.04	2.24	-1.22	0.09494	.	1.264420	0.05864	N	0.623511	T	0.64789	0.2630	M	0.87381	2.88	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.57165	-0.7858	10	0.66056	D	0.02	.	3.0303	0.06104	0.3141:0.2341:0.4519:0.0	.	460	O95522	PRA12_HUMAN	V	460	ENSP00000350358:G460V	ENSP00000350358:G460V	G	+	2	0	PRAMEF12	12760256	0.000000	0.05858	0.000000	0.03702	0.568000	0.35870	-0.711000	0.05019	-0.296000	0.08947	0.205000	0.17691	GGC		0.507	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		T	12837669	G	T	12837669	3	4	330	1	0	0	0	0	1	0	0	0	12433	1203	42	4	1389	4	PRAMEF12	1	12837669	Missense_Mutation	SNP	G	TCGA-BP-4330-01A-01D-1366-10	5	12837669	236412952	3	19295	155	2									
LIX1L	128077	hgsc.bcm.edu	37	1	145497422	145497422	+	Missense_Mutation	SNP	T	T	A	rs189730184		TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:145497422T>A	ENST00000369308.3	+	4	701	c.627T>A	c.(625-627)aaT>aaA	p.N209K	RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	209										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACAACCCAAATACAGGGATTG	0.453																																																0													95	83	87					1																	145497422		2203	4300	6503	SO:0001583	missense	128077			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"Lix1 homolog (mouse) like", "Lix1 homolog (chicken)-like"			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.627T>A	1.37:g.145497422T>A	ENSP00000358314:p.Asn209Lys		Q6AI36	Missense_Mutation	SNP	ENST00000369308.3	37	CCDS915.1	228	0.1043956043956044	79	0.16056910569105692	28	0.07734806629834254	44	0.07692307692307693	77	0.10158311345646438	T	16.93	3.258109	0.59321	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	5.1	-2.96	0.05547	.	0.142736	0.64402	D	0.000009	T	0.30293	0.0760	L	0.54323	1.7	0.38858	D	0.956423	P	0.38767	0.646	B	0.33254	0.16	T	0.33317	-0.9873	9	0.72032	D	0.01	-10.0511	12.0894	0.53717	0.0:0.6382:0.0:0.3618	.	209	Q8IVB5	LIX1L_HUMAN	K	209;156	.	ENSP00000358314:N209K	N	+	3	2	LIX1L	144208779	0.992000	0.36948	0.947000	0.38551	0.997000	0.91878	0.281000	0.18810	-0.427000	0.07350	0.460000	0.39030	AAT		0.453	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		A	145497422	T	A	145497422	3	1	330	1	0	0	0	0	1	0	0	0	8834	1403	49	5	641	5	LIX1L	1	145497422	Missense_Mutation	SNP	T	TCGA-BP-4330-01A-01D-1366-10	132659753	145497422	103753199	4	19296											
COPA	1314	hgsc.bcm.edu;ucsc.edu	37	1	160261203	160261203	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:160261203C>A	ENST00000241704.7	-	31	3571	c.3342G>T	c.(3340-3342)aaG>aaT	p.K1114N	COPA_ENST00000368069.3_Missense_Mutation_p.K1123N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1114					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGTTCTTGAGCTTGAAGAACA	0.537											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													100	90	93					1																	160261203		2203	4300	6503	SO:0001583	missense	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3342G>T	1.37:g.160261203C>A	ENSP00000241704:p.Lys1114Asn	1807	Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677529	0.68042	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60040	0.22;0.22	5.97	1.35	0.21983	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.75747	-0.3209	10	0.87932	D	0	-21.1052	8.3058	0.32041	0.0:0.4751:0.0:0.5249	.	1114;1123	P53621;P53621-2	COPA_HUMAN;.	N	1123;1114	ENSP00000357048:K1123N;ENSP00000241704:K1114N	ENSP00000241704:K1114N	K	-	3	2	COPA	158527827	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.363000	0.20301	0.375000	0.24679	-0.140000	0.14226	AAG		0.537	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		A	160261203	C	A	160261203	3	1	330	1	0	0	0	0	1	0	0	0	3729	796	28	4	344	4	COPA	1	160261203	Missense_Mutation	SNP	C	TCGA-BP-4330-01A-01D-1366-10	14763781	160261203	88989418	5	19297											
OR14I1	401994	hgsc.bcm.edu;ucsc.edu	37	1	248845202	248845202	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:248845202G>A	ENST00000342623.3	-	1	427	c.404C>T	c.(403-405)aCa>aTa	p.T135I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CCCTCCTGATGTCATCACGGC	0.532																																																0													85	73	77					1																	248845202		2203	4300	6503	SO:0001583	missense	401994				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.404C>T	1.37:g.248845202G>A	ENSP00000339726:p.Thr135Ile			Missense_Mutation	SNP	ENST00000342623.3	37	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	13.35	2.210493	0.39102	.	.	ENSG00000189181	ENST00000342623	T	0.00340	8.04	3.48	-0.293	0.12835	GPCR, rhodopsin-like superfamily (1);	0.318283	0.22657	N	0.057249	T	0.00496	0.0016	M	0.85710	2.77	0.09310	N	0.999999	D	0.54601	0.967	P	0.58620	0.842	T	0.50575	-0.8812	10	0.59425	D	0.04	.	1.9258	0.03316	0.1106:0.1572:0.3239:0.4083	.	135	A6ND48	O14I1_HUMAN	I	135	ENSP00000339726:T135I	ENSP00000339726:T135I	T	-	2	0	OR14I1	246911825	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	-0.762000	0.04745	0.015000	0.14971	0.536000	0.68110	ACA		0.532	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		A	248845202	G	A	248845202	3	1	330	1	0	0	0	0	1	0	0	0	10949	1377	48	2	535	2	OR14I1	1	248845202	Missense_Mutation	SNP	G	TCGA-BP-4330-01A-01D-1366-10	88583999	248845202	405419	6	19298											
FEZ2	9637	hgsc.bcm.edu	37	2	36785599	36785599	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr2:36785599G>A	ENST00000405912.3	-	6	960	c.961C>T	c.(961-963)Ctt>Ttt	p.L321F	FEZ2_ENST00000379245.4_Missense_Mutation_p.L348F|FEZ2_ENST00000305852.7_Missense_Mutation_p.L150F|FEZ2_ENST00000487919.1_5'UTR	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	321					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				AATATTTGAAGATCTTCAACA	0.323																																																0													118	112	114					2																	36785599		1732	3881	5613	SO:0001583	missense	9637			U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.961C>T	2.37:g.36785599G>A	ENSP00000385112:p.Leu321Phe		Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	CCDS46257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.816469|4.816469	0.90790|0.90790	.|.	.|.	ENSG00000171055|ENSG00000171055	ENST00000379245;ENST00000305852;ENST00000405912;ENST00000357996|ENST00000441005	T;T;T;T|.	0.63580|.	3.95;-0.05;0.96;0.02|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74801|0.74801	0.3764|0.3764	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.91635|.	0.999;0.999;0.997|.	T|T	0.70568|0.70568	-0.4836|-0.4836	10|5	0.87932|.	D|.	0|.	-34.6331|-34.6331	19.5894|19.5894	0.95501|0.95501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	321;348;150|.	Q9UHY8;Q9UHY8-2;Q7Z674|.	FEZ2_HUMAN;.;.|.	F|F	348;150;321;220|122	ENSP00000368547:L348F;ENSP00000305843:L150F;ENSP00000385112:L321F;ENSP00000350685:L220F|.	ENSP00000305843:L150F|.	L|S	-|-	1|2	0|0	FEZ2|FEZ2	36639103|36639103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.625000|8.625000	0.90965|0.90965	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	CTT|TCT		0.323	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1			A	36785599	G	A	36785599	3	1	330	1	0	0	0	0	1	0	0	0	5826	942	33	2	112	2	FEZ2	2	36785599	Missense_Mutation	SNP	G	TCGA-BP-4330-01A-01D-1366-10		36785599	206413774	7	19299											
EBLN2	55096	hgsc.bcm.edu;ucsc.edu	37	3	73111546	73111546	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr3:73111546A>G	ENST00000533473.1	+	1	737	c.314A>G	c.(313-315)aAa>aGa	p.K105R	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	105										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						GACATTAAAAAAGCAGCCAAG	0.428																																																0													54	49	51					3																	73111546		1913	4108	6021	SO:0001583	missense	55096				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.314A>G	3.37:g.73111546A>G	ENSP00000432104:p.Lys105Arg		Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.444878	0.25987	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.458	-0.736	0.11133	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.35595	0.0937	N	0.24115	0.695	0.09310	N	1	P	0.51057	0.941	P	0.60415	0.874	T	0.23547	-1.0185	7	0.66056	D	0.02	.	.	.	.	.	105	Q6P2I7	EBLN2_HUMAN	R	105	.	ENSP00000432104:K105R	K	+	2	0	EBLN2	73194236	0.303000	0.24463	0.003000	0.11579	0.003000	0.03518	0.349000	0.20055	-0.417000	0.07461	-0.425000	0.05940	AAA		0.428	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		G	73111546	A	G	73111546	3	3	330	1	0	0	0	0	1	0	0	0	4886	14	1	3	316	3	EBLN2	3	73111546	Missense_Mutation	SNP	A	TCGA-BP-4330-01A-01D-1366-10		73111546	124910884	8	19300											
ARHGAP31	57514	hgsc.bcm.edu	37	3	119133102	119133102	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr3:119133102A>C	ENST00000264245.4	+	12	2858	c.2326A>C	c.(2326-2328)Aat>Cat	p.N776H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	776	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGGCCCAGGCAATCTGTCTCC	0.587																																					Pancreas(7;176 297 5394 51128 51241)											0													54	58	57					3																	119133102		1947	4148	6095	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2326A>C	3.37:g.119133102A>C	ENSP00000264245:p.Asn776His		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618970	0.46736	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.08008	3.14	5.3	4.14	0.48551	.	0.363586	0.26522	N	0.023912	T	0.10035	0.0246	L	0.29908	0.895	0.09310	N	1	P	0.47409	0.895	P	0.49708	0.62	T	0.10894	-1.0610	10	0.42905	T	0.14	.	9.1901	0.37193	0.9181:0.0:0.0819:0.0	.	776	Q2M1Z3	RHG31_HUMAN	H	776	ENSP00000264245:N776H	ENSP00000264245:N776H	N	+	1	0	ARHGAP31	120615792	0.095000	0.21747	0.020000	0.16555	0.087000	0.18053	2.074000	0.41529	1.027000	0.39758	0.533000	0.62120	AAT		0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			C	119133102	A	C	119133102	3	2	330	1	0	0	0	0	1	0	0	0	880	130	5	5	2372	5	ARHGAP31	3	119133102	Missense_Mutation	SNP	A	TCGA-BP-4330-01A-01D-1366-10	46021556	119133102	78889328	9	19301											
GPR149	344758	hgsc.bcm.edu	37	3	154146465	154146465	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr3:154146465T>C	ENST00000389740.2	-	1	1039	c.940A>G	c.(940-942)Atc>Gtc	p.I314V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	314					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGCGCTAGGATCAAAGCGAAG	0.567																																																0													102	101	101					3																	154146465		1975	4150	6125	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.940A>G	3.37:g.154146465T>C	ENSP00000374390:p.Ile314Val			Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069784	0.76301	.	.	ENSG00000174948	ENST00000389740	T	0.34472	1.36	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.82823	2.61	0.50467	D	0.999877	D	0.65815	0.995	D	0.64877	0.93	T	0.64918	-0.6294	10	0.45353	T	0.12	-21.3383	14.5028	0.67734	0.0:0.0:0.0:1.0	.	314	Q86SP6	GP149_HUMAN	V	314	ENSP00000374390:I314V	ENSP00000374390:I314V	I	-	1	0	GPR149	155629159	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	3.621000	0.54210	1.841000	0.53522	0.533000	0.62120	ATC		0.567	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		C	154146465	T	C	154146465	3	2	330	1	0	0	0	0	1	0	0	0	6656	1435	50	3	1271	3	GPR149	3	154146465	Missense_Mutation	SNP	T	TCGA-BP-4330-01A-01D-1366-10	35013363	154146465	43875965	10	19302											
MEPE	56955	hgsc.bcm.edu;ucsc.edu	37	4	88755919	88755919	+	Splice_Site	SNP	C	C	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr4:88755919C>G	ENST00000424957.3	+	2	126	c.53C>G	c.(52-54)cCa>cGa	p.P18R	MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000361056.3_Splice_Site_p.P18R|MEPE_ENST00000511670.1_Splice_Site_p.P18R|MEPE_ENST00000497649.2_5'UTR|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Splice_Site_p.P18R	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	18					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGGGCAGCACCAGTAAGTATT	0.348																																																0													137	136	136					4																	88755919		2203	4300	6503	SO:0001630	splice_region_variant	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.54+1C>G	4.37:g.88755919C>G			A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846589	0.51164	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000511670;ENST00000361056	T;T;T	0.66280	-0.2;1.94;-0.2	5.2	4.37	0.52481	.	1.031030	0.07750	N	0.948413	T	0.71787	0.3381	M	0.84326	2.69	0.30486	N	0.771905	P	0.47409	0.895	P	0.47206	0.541	T	0.67818	-0.5572	10	0.87932	D	0	-0.0622	9.7891	0.40695	0.0:0.9073:0.0:0.0927	.	18	Q9NQ76	MEPE_HUMAN	R	18	ENSP00000416984:P18R;ENSP00000378534:P18R;ENSP00000354341:P18R	ENSP00000354341:P18R	P	+	2	0	MEPE	88974943	0.997000	0.39634	0.994000	0.49952	0.622000	0.37654	0.942000	0.29017	1.559000	0.49555	0.655000	0.94253	CCA		0.348	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1		Missense_Mutation	G	88755919	C	G	88755919	5	3	330	1	0	0	0	0	0	0	1	0	9480	608	21	4	55	4	MEPE	4	88755919	Splice_Site	SNP	C	TCGA-BP-4330-01A-01D-1366-10		88755919	102398357	11	19303											
TTC29	83894	hgsc.bcm.edu	37	4	147724797	147724797	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr4:147724797A>C	ENST00000325106.4	-	11	1368	c.1142T>G	c.(1141-1143)tTt>tGt	p.F381C	TTC29_ENST00000398886.4_Missense_Mutation_p.F407C|TTC29_ENST00000513335.1_Missense_Mutation_p.F407C|TTC29_ENST00000506019.1_5'UTR	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	381										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGTTGTGTCAAAAGCTTGCTG	0.353																																																0													57	55	56					4																	147724797		1879	4109	5988	SO:0001583	missense	83894			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1142T>G	4.37:g.147724797A>C	ENSP00000316740:p.Phe381Cys		A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.055573	0.55325	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000504425	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.179079	0.49916	D	0.000126	D	0.95245	0.8458	M	0.67953	2.075	0.40633	D	0.981876	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.98;0.986	D	0.95277	0.8382	10	0.87932	D	0	-15.6301	7.1984	0.25866	0.8:0.0:0.0698:0.1302	.	381;407;381	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	C	407;407;381;381	ENSP00000423505:F407C;ENSP00000381861:F407C;ENSP00000316740:F381C;ENSP00000425778:F381C	ENSP00000316740:F381C	F	-	2	0	TTC29	147944247	1.000000	0.71417	0.992000	0.48379	0.752000	0.42762	2.856000	0.48341	2.228000	0.72767	0.533000	0.62120	TTT		0.353	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		C	147724797	A	C	147724797	3	2	330	1	0	0	0	0	1	0	0	0	16701	14	1	5	297	5	TTC29	4	147724797	Missense_Mutation	SNP	A	TCGA-BP-4330-01A-01D-1366-10	58968878	147724797	43429479	12	19304											
DAB2	1601	hgsc.bcm.edu;ucsc.edu	37	5	39381655	39381655	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr5:39381655G>A	ENST00000320816.6	-	11	1872	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	DAB2_ENST00000545653.1_Nonsense_Mutation_p.Q448*|DAB2_ENST00000509337.1_Nonsense_Mutation_p.Q448*|DAB2_ENST00000339788.6_Nonsense_Mutation_p.Q251*	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	469					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTGACGCCTGGCCTGAAGGT	0.577																																																0													128	125	126					5																	39381655		2203	4300	6503	SO:0001587	stop_gained	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1405C>T	5.37:g.39381655G>A	ENSP00000313391:p.Gln469*		A6NES5|Q13598|Q9BTY0|Q9UK04	Nonsense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	36	5.840978	0.97009	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	.	.	.	6.08	6.08	0.98989	.	0.366935	0.29932	N	0.010829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-1.3947	14.7878	0.69816	0.0704:0.0:0.9296:0.0	.	.	.	.	X	469;251;448;448	.	ENSP00000313391:Q469X	Q	-	1	0	DAB2	39417412	1.000000	0.71417	0.882000	0.34594	0.853000	0.48598	2.798000	0.47884	2.890000	0.99128	0.655000	0.94253	CAG		0.577	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		A	39381655	G	A	39381655	4	1	330	1	0	0	0	0	0	1	0	0	4220	1357	47	2	923	2	DAB2	5	39381655	Nonsense_Mutation	SNP	G	TCGA-BP-4330-01A-01D-1366-10		39381655	141533605	13	19305											
ERCC8	1161	hgsc.bcm.edu;ucsc.edu	37	5	60183307	60183307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr5:60183307C>T	ENST00000265038.5	-	11	1124	c.1082G>A	c.(1081-1083)tGg>tAg	p.W361*	ERCC8_ENST00000426742.2_Nonsense_Mutation_p.W303*|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000543101.1_Nonsense_Mutation_p.W208*	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	361			W -> C (in UVSS2; dbSNP:rs281875221). {ECO:0000269|PubMed:19329487}.		cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				GGATGGAACCCAAGCCAGAAT	0.353																																																0													130	124	126					5																	60183307		2203	4300	6503	SO:0001587	stop_gained	1161			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.1082G>A	5.37:g.60183307C>T	ENSP00000265038:p.Trp361*		B2RB64|Q6FHX5|Q96GB9	Nonsense_Mutation	SNP	ENST00000265038.5	37	CCDS3978.1	.	.	.	.	.	.	.	.	.	.	C	39	7.357864	0.98235	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9282	19.0041	0.92843	0.0:1.0:0.0:0.0	.	.	.	.	X	303;361;208;360	.	ENSP00000265038:W361X	W	-	2	0	ERCC8	60219064	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	6.283000	0.72646	2.725000	0.93324	0.591000	0.81541	TGG		0.353	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082		T	60183307	C	T	60183307	4	4	330	1	0	0	0	0	0	1	0	0	5221	595	21	2	116	2	ERCC8	5	60183307	Nonsense_Mutation	SNP	C	TCGA-BP-4330-01A-01D-1366-10	20801652	60183307	120731953	14	19306											
CDKL3	51265	hgsc.bcm.edu;ucsc.edu	37	5	133655130	133655130	+	Silent	SNP	T	T	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr5:133655130T>C	ENST00000265334.4	-	6	829	c.711A>G	c.(709-711)gtA>gtG	p.V237V	CDKL3_ENST00000609654.1_Silent_p.V48V|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523832.1_Silent_p.V237V|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523054.1_Silent_p.V48V|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000435240.2_5'UTR|CDKL3_ENST00000522501.1_5'UTR|CDKL3_ENST00000435211.1_Silent_p.V237V|CDKL3_ENST00000521118.1_Silent_p.V237V|CDKL3_ENST00000609383.1_Intron	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGAAGAACTACCCCAGCAA	0.318																																																0													64	64	64					5																	133655130		1715	3860	5575	SO:0001819	synonymous_variant	51265			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"Cyclin-dependent kinases"	15483	protein-coding gene	gene with protein product	"serine-threonine protein kinase NKIAMRE"	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.711A>G	5.37:g.133655130T>C			D3DQA0|D3DQA1|Q9P114	Silent	SNP	ENST00000265334.4	37	CCDS47264.1																																																																																				0.318	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		C	133655130	T	C	133655130	2	2	330	1	0	0	0	0	0	0	0	1	3157	1509	53	3		3	CDKL3	5	133655130	Silent	SNP	T	TCGA-BP-4330-01A-01D-1366-10	73471823	133655130	47260130	15	19307											
NDFIP1	80762	hgsc.bcm.edu	37	5	141517333	141517333	+	Silent	SNP	G	G	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr5:141517333G>T	ENST00000253814.4	+	5	875	c.405G>T	c.(403-405)ctG>ctT	p.L135L		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	135					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTTTCCTGTCTTTTTGCC	0.448																																																0													239	230	233					5																	141517333		2203	4300	6503	SO:0001819	synonymous_variant	80762			BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.405G>T	5.37:g.141517333G>T			B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Silent	SNP	ENST00000253814.4	37	CCDS4273.1																																																																																				0.448	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571		T	141517333	G	T	141517333	2	4	330	1	0	0	0	0	0	0	0	1	10247	1364	48	4		4	NDFIP1	5	141517333	Silent	SNP	G	TCGA-BP-4330-01A-01D-1366-10	7862203	141517333	39397927	16	19308											
MSH5	4439	hgsc.bcm.edu	37	6	31729359	31729359	+	Silent	SNP	A	A	G	rs707938	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr6:31729359A>G	ENST00000375755.3	+	22	2434	c.2148A>G	c.(2146-2148)caA>caG	p.Q716Q	MSH5-SAPCD1_ENST00000493662.2_Silent_p.Q733Q|MSH5-SAPCD1_ENST00000491552.1_3'UTR|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000431848.2_Silent_p.Q415Q|MSH5_ENST00000534153.4_Silent_p.Q733Q|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000375750.3_Silent_p.Q716Q|MSH5_ENST00000375742.3_Silent_p.Q733Q|MSH5_ENST00000375740.3_Silent_p.Q734Q|MSH5_ENST00000395853.1_Silent_p.Q390Q|MSH5_ENST00000375703.3_Silent_p.Q717Q|SAPCD1_ENST00000415669.2_5'Flank	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	716					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TTCAGCTACAACTGCTGCCAC	0.607								Direct reversal of damage;Mismatch excision repair (MMR)					G|||	2340	0.467252	0.6929	0.4236	5008	,	,		17393	0.3512		0.3191	False		,,,				2504	0.4652															0								G	,,,	2847,1559		925,997,281	47	53	51		2148,2202,2151,2148	2.6	1	6	dbSNP_86	51	2724,5876		455,1814,2031	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MSH5	NM_002441.4,NM_025259.5,NM_172165.3,NM_172166.3	,,,	1380,2811,2312	GG,GA,AA		31.6744,35.3836,42.8341	,,,	716/835,734/823,717/836,716/835	31729359	5571,7435	2203	4300	6503	SO:0001819	synonymous_variant	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2148A>G	6.37:g.31729359A>G			B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	CCDS4720.1																																																																																				0.607	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			G	31729359	A	G	31729359	2	3	330	1	0	0	0	0	0	0	0	1	9875	40	2	3		3	MSH5	6	31729359	Silent	SNP	A	TCGA-BP-4330-01A-01D-1366-10		31729359	139385708	17	19309											
HLA-DQB1	3119	hgsc.bcm.edu	37	6	32634350	32634350	+	Missense_Mutation	SNP	T	T	C	rs1049057	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr6:32634350T>C	ENST00000399082.3	-	1	79	c.35A>G	c.(34-36)gAc>gGc	p.D12G	HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000399084.1_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.D12G			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	12			G -> D (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12; dbSNP:rs1049057).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	TACCCGAAGGTCTCCGGGGAT	0.562									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				t|||	3031	0.605232	0.4818	0.7089	5008	,	,		11450	0.6657		0.5755	False		,,,				2504	0.6667				Esophageal Squamous(151;720 1825 15000 40336 43415)											0								C	GLY/ASP	1428,2438		461,506,966	50	48	49		35	1.7	0	6	dbSNP_86	49	3721,4489		1409,903,1793	yes	missense	HLA-DQB1	NM_002123.4	94	1870,1409,2759	CC,CT,TT		45.3228,36.9374,42.6383	benign	12/262	32634350	5149,6927	1933	4105	6038	SO:0001583	missense	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.35A>G	6.37:g.32634350T>C	ENSP00000382032:p.Asp12Gly		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399082.3	37		1225	0.5608974358974359	193	0.39227642276422764	236	0.6519337016574586	398	0.6958041958041958	398	0.525065963060686	.	0.021	-1.421267	0.01126	0.369374	0.453228	ENSG00000179344	ENST00000399082;ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084;ENST00000447884	T;T;T;T;T	0.03386	3.95;8.5;8.5;8.5;8.5	3.59	1.68	0.24146	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.80722	P	0.0	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.44081	-0.9351	7	0.02654	T	1	.	3.1383	0.06447	0.2174:0.5424:0.0:0.2402	rs1049057;rs3189133;rs9274521;rs12722099;rs16868461	22;12;12;12	Q59F80;A2AAZ0;Q5Y7D6;Q5Y7A9	.;.;.;.	G	12	ENSP00000382032:D12G;ENSP00000382029:D12G;ENSP00000364080:D12G;ENSP00000407332:D12G;ENSP00000382034:D12G	ENSP00000364080:D12G	D	-	2	0	HLA-DQB1	32742328	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.328000	0.19681	0.003000	0.14656	-0.368000	0.07277	GAC		0.562	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		C	32634350	T	C	32634350	3	2	330	1	0	0	0	0	1	0	0	0	7208	1667	58	3	770	3	HLA-DQB1	6	32634350	Missense_Mutation	SNP	T	TCGA-BP-4330-01A-01D-1366-10	904991	32634350	138480717	18	19310											
MICALL2	79778	hgsc.bcm.edu	37	7	1480280	1480280	+	Silent	SNP	C	C	T	rs58636013	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr7:1480280C>T	ENST00000297508.7	-	8	1927	c.1752G>A	c.(1750-1752)ccG>ccA	p.P584P	MICALL2_ENST00000405088.4_Silent_p.P372P|MICALL2_ENST00000471899.1_5'Flank	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	584	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCCATCCTGCCGGCCCGTCCT	0.642													C|||	489	0.0976438	0.18	0.2176	5008	,	,		19194	0.0298		0.0507	False		,,,				2504	0.0194															0										769,3633	309.7+/-291.2	73,623,1505	91	71	78		1752	-8.2	0.1	7	dbSNP_129	78	469,8125	137.6+/-194.5	14,441,3842	no	coding-synonymous	MICALL2	NM_182924.3		87,1064,5347	TT,TC,CC		5.4573,17.4693,9.526		584/905	1480280	1238,11758	2201	4297	6498	SO:0001819	synonymous_variant	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1752G>A	7.37:g.1480280C>T			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	CCDS5324.1																																																																																				0.642	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		T	1480280	C	T	1480280	2	4	330	1	0	0	0	0	0	0	0	1	9576	639	23	1		1	MICALL2	7	1480280	Silent	SNP	C	TCGA-BP-4330-01A-01D-1366-10		1480280	157658383	19	19311	156	2									
MICALL2	79778	hgsc.bcm.edu	37	7	1480286	1480286	+	Silent	SNP	G	G	A	rs61741872	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr7:1480286G>A	ENST00000297508.7	-	8	1921	c.1746C>T	c.(1744-1746)gaC>gaT	p.D582D	MICALL2_ENST00000405088.4_Silent_p.D370D|MICALL2_ENST00000471899.1_5'Flank	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	582	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTGCCGGCCCGTCCTCCTGGC	0.642													g|||	430	0.0858626	0.1392	0.2104	5008	,	,		19006	0.0298		0.0507	False		,,,				2504	0.0194															0										581,3821	256.4+/-261.2	34,513,1654	82	65	70		1746	-8.2	0	7	dbSNP_129	70	451,8143	135.1+/-192.4	13,425,3859	no	coding-synonymous	MICALL2	NM_182924.3		47,938,5513	AA,AG,GG		5.2478,13.1985,7.9409		582/905	1480286	1032,11964	2201	4297	6498	SO:0001819	synonymous_variant	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1746C>T	7.37:g.1480286G>A			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	CCDS5324.1																																																																																				0.642	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		A	1480286	G	A	1480286	2	1	330	1	0	0	0	0	0	0	0	1	9576	1136	40	1		1	MICALL2	7	1480286	Silent	SNP	G	TCGA-BP-4330-01A-01D-1366-10	6	1480286	157658377	20	19312	156	2									
ZNF786	136051	hgsc.bcm.edu	37	7	148768360	148768360	+	Silent	SNP	G	G	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr7:148768360G>T	ENST00000491431.1	-	4	1568	c.1504C>A	c.(1504-1506)Cgg>Agg	p.R502R	ZNF786_ENST00000316286.9_Silent_p.R416R|ZNF786_ENST00000451334.3_Silent_p.R465R	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACCGTGCCGGAGCCGGTGG	0.662																																																0													31	36	35					7																	148768360		2111	4250	6361	SO:0001819	synonymous_variant	136051			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1504C>A	7.37:g.148768360G>T			A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	CCDS47738.1																																																																																				0.662	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		T	148768360	G	T	148768360	2	4	330	1	0	0	0	0	0	0	0	1	18163	1115	39	4		4	ZNF786	7	148768360	Silent	SNP	G	TCGA-BP-4330-01A-01D-1366-10	147288074	148768360	10370303	21	19313											
MYOM2	9172	hgsc.bcm.edu;ucsc.edu	37	8	2033423	2033423	+	Silent	SNP	C	C	T	rs144162836	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr8:2033423C>T	ENST00000262113.4	+	14	1686	c.1545C>T	c.(1543-1545)acC>acT	p.T515T	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	515	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGCCTCCCACCGGTGTGCACG	0.602													C|||	6	0.00119808	0.0038	0.0	5008	,	,		16428	0.0		0.0	False		,,,				2504	0.001															0										8,4398	12.9+/-30.5	0,8,2195	76	65	69		1545	0.8	0.2	8	dbSNP_134	69	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MYOM2	NM_003970.2		0,11,6492	TT,TC,CC		0.0349,0.1816,0.0846		515/1466	2033423	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1545C>T	8.37:g.2033423C>T			Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.602	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		T	2033423	C	T	2033423	2	4	330	1	0	0	0	0	0	0	0	1	10094	639	23	1		1	MYOM2	8	2033423	Silent	SNP	C	TCGA-BP-4330-01A-01D-1366-10		2033423	144330599	22	19314											
CHRNA2	1135	hgsc.bcm.edu;ucsc.edu	37	8	27319259	27319259	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr8:27319259A>G	ENST00000520933.2	-	6	1630	c.1477T>C	c.(1477-1479)Tgg>Cgg	p.W493R	CHRNA2_ENST00000407991.1_Missense_Mutation_p.W493R|CHRNA2_ENST00000240132.2_Missense_Mutation_p.W478R			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	493					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	ACATACTTCCAGTCCTCCTTC	0.587																																																0													254	203	220					8																	27319259		2203	4300	6503	SO:0001583	missense	1135			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.1477T>C	8.37:g.27319259A>G	ENSP00000429616:p.Trp493Arg		A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537038	0.85812	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.76839	-1.05;-1.05;-1.05	5.59	5.59	0.84812	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92570	0.7640	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95001	0.8143	10	0.87932	D	0	.	13.7168	0.62702	1.0:0.0:0.0:0.0	.	478;493	B4DK19;Q15822	.;ACHA2_HUMAN	R	493;493;478	ENSP00000385026:W493R;ENSP00000429616:W493R;ENSP00000240132:W478R	ENSP00000240132:W478R	W	-	1	0	CHRNA2	27375176	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.297000	0.96120	2.119000	0.64992	0.459000	0.35465	TGG		0.587	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			G	27319259	A	G	27319259	3	3	330	1	0	0	0	0	1	0	0	0	3385	188	7	3	116	3	CHRNA2	8	27319259	Missense_Mutation	SNP	A	TCGA-BP-4330-01A-01D-1366-10	25285836	27319259	119044763	23	19315											
VCP	7415	hgsc.bcm.edu	37	9	35061687	35061687	+	Splice_Site	SNP	C	C	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr9:35061687C>G	ENST00000358901.6	-	10	1977		c.e10-1			NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCAAAGCGACCTGTGGGACAG	0.483																																																0													175	149	158					9																	35061687		2203	4300	6503	SO:0001630	splice_region_variant	7415			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1082-1G>C	9.37:g.35061687C>G			B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Splice_Site	SNP	ENST00000358901.6	37	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764263	0.69878	.	.	ENSG00000165280	ENST00000358901	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VCP	35051687	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.783000	0.85696	2.826000	0.97356	0.655000	0.94253	.		0.483	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126	Intron	G	35061687	C	G	35061687	5	3	330	1	0	0	0	0	0	0	1	0	17145	695	24	4	1371	4	VCP	9	35061687	Splice_Site	SNP	C	TCGA-BP-4330-01A-01D-1366-10		35061687	106151744	24	19316											
PTCH1	5727	hgsc.bcm.edu	37	9	98211564	98211564	+	Silent	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr9:98211564G>A	ENST00000331920.6	-	22	3890	c.3591C>T	c.(3589-3591)tcC>tcT	p.S1197S	PTCH1_ENST00000429896.2_Silent_p.S1046S|PTCH1_ENST00000437951.1_Silent_p.S1131S|PTCH1_ENST00000421141.1_Silent_p.S1046S|PTCH1_ENST00000418258.1_Silent_p.S1046S|PTCH1_ENST00000375274.2_Silent_p.S1196S|PTCH1_ENST00000430669.2_Silent_p.S1131S	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1197					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTGGCTCAGGGGAGGGTGTGG	0.597																																																0													23	30	28					9																	98211564		2190	4270	6460	SO:0001819	synonymous_variant	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3591C>T	9.37:g.98211564G>A			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				0.597	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		A	98211564	G	A	98211564	2	1	330	1	0	0	0	0	0	0	0	1	12735	1219	43	2		2	PTCH1	9	98211564	Silent	SNP	G	TCGA-BP-4330-01A-01D-1366-10	63149877	98211564	43001867	25	19317											
OR1L8	138881	hgsc.bcm.edu;ucsc.edu	37	9	125330260	125330260	+	Missense_Mutation	SNP	C	C	T	rs373426364		TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr9:125330260C>T	ENST00000304865.2	-	1	578	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGGTGAGACGATTCAGCAG	0.498																																																0													154	116	129					9																	125330260		2203	4300	6503	SO:0001583	missense	138881				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"GPCR / Class A : Olfactory receptors"	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.497G>A	9.37:g.125330260C>T	ENSP00000306607:p.Arg166His		A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872590	0.33069	.	.	ENSG00000171496	ENST00000304865	T	0.00169	8.63	4.49	-8.98	0.00754	GPCR, rhodopsin-like superfamily (1);	2.578920	0.01572	N	0.020616	T	0.00144	0.0004	L	0.42632	1.34	0.09310	N	1	B	0.19583	0.037	B	0.21708	0.036	T	0.32851	-0.9891	10	0.54805	T	0.06	2.0917	5.8837	0.18870	0.4193:0.1963:0.0:0.3844	.	166	Q8NGR8	OR1L8_HUMAN	H	166	ENSP00000306607:R166H	ENSP00000306607:R166H	R	-	2	0	OR1L8	124370081	0.000000	0.05858	0.000000	0.03702	0.927000	0.56198	-1.955000	0.01523	-2.450000	0.00543	-0.582000	0.04134	CGT		0.498	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			T	125330260	C	T	125330260	3	4	330	1	0	0	0	0	1	0	0	0	10969	536	19	1	436	1	OR1L8	9	125330260	Missense_Mutation	SNP	C	TCGA-BP-4330-01A-01D-1366-10	27118696	125330260	15883171	26	19318											
JMJD1C	221037	hgsc.bcm.edu	37	10	64975354	64975354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr10:64975354G>A	ENST00000399262.2	-	6	999	c.781C>T	c.(781-783)Cga>Tga	p.R261*	JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.R79*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.R42*|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.R42*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	261					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GACCTGCGTCGTGATGTAATG	0.373																																																0													94	85	88					10																	64975354		1890	4118	6008	SO:0001587	stop_gained	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.781C>T	10.37:g.64975354G>A	ENSP00000382204:p.Arg261*		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	44	10.728027	0.99458	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	5.28	5.28	0.74379	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8261	18.9044	0.92454	0.0:0.0:1.0:0.0	.	.	.	.	X	261;42;42;79	.	ENSP00000382195:R42X	R	-	1	2	JMJD1C	64645360	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.074000	0.76791	2.473000	0.83533	0.655000	0.94253	CGA		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		A	64975354	G	A	64975354	4	1	330	1	0	0	0	0	0	1	0	0	7952	1153	40	1	6925	1	JMJD1C	10	64975354	Nonsense_Mutation	SNP	G	TCGA-BP-4330-01A-01D-1366-10		64975354	70559393	27	19319											
C10orf12	26148	hgsc.bcm.edu;ucsc.edu	37	10	98741230	98741230	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr10:98741230T>A	ENST00000286067.2	+	1	190	c.83T>A	c.(82-84)aTt>aAt	p.I28N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	28										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCTGTATTATTCCTCAAAGA	0.383																																																0													78	76	77					10																	98741230		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.83T>A	10.37:g.98741230T>A	ENSP00000286067:p.Ile28Asn		Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	T	4.112	0.019023	0.08006	.	.	ENSG00000155640	ENST00000286067	T	0.06933	3.24	5.95	3.56	0.40772	.	0.705245	0.11957	N	0.513104	T	0.04952	0.0133	N	0.08118	0	0.20307	N	0.999915	P	0.44946	0.846	B	0.41813	0.367	T	0.33777	-0.9855	10	0.66056	D	0.02	-0.7862	5.5777	0.17233	0.0:0.2241:0.1772:0.5988	.	28	Q8N655	CJ012_HUMAN	N	28	ENSP00000286067:I28N	ENSP00000286067:I28N	I	+	2	0	C10orf12	98731220	0.943000	0.32029	0.765000	0.31456	0.005000	0.04900	0.475000	0.22164	0.475000	0.27415	0.533000	0.62120	ATT		0.383	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		A	98741230	T	A	98741230	3	1	330	1	0	0	0	0	1	0	0	0	1591	1493	52	5	85	5	C10orf12	10	98741230	Missense_Mutation	SNP	T	TCGA-BP-4330-01A-01D-1366-10	33765876	98741230	36793517	28	19320											
STIP1	10963	hgsc.bcm.edu	37	11	63965325	63965325	+	Splice_Site	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr11:63965325G>A	ENST00000305218.4	+	8	1049		c.e8-1		STIP1_ENST00000358794.5_Splice_Site|STIP1_ENST00000538945.1_Splice_Site	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1						response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TTCTTTATCAGAGCATATGCT	0.463																																																1	Unknown(1)	lung(1)											190	203	198					11																	63965325		2201	4297	6498	SO:0001630	splice_region_variant	10963			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.903-1G>A	11.37:g.63965325G>A			B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Splice_Site	SNP	ENST00000305218.4	37	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	9.911	1.209555	0.22289	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.533	0.87819	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STIP1	63721901	1.000000	0.71417	0.972000	0.41901	0.039000	0.13416	8.989000	0.93506	2.520000	0.84964	0.467000	0.42956	.		0.463	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819	Intron	A	63965325	G	A	63965325	5	1	330	1	0	0	0	0	0	0	1	0	15290	956	33	2	932	2	STIP1	11	63965325	Splice_Site	SNP	G	TCGA-BP-4330-01A-01D-1366-10		63965325	71041191	29	19321											
ENDOD1	23052	hgsc.bcm.edu;ucsc.edu	37	11	94862593	94862593	+	Silent	SNP	T	T	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr11:94862593T>G	ENST00000278505.4	+	2	1471	c.1353T>G	c.(1351-1353)gtT>gtG	p.V451V		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	451						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTCCAATTGTTTGCAAGGACA	0.522																																																0													198	187	191					11																	94862593		2030	4195	6225	SO:0001819	synonymous_variant	23052			BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.1353T>G	11.37:g.94862593T>G			A8K6K8|Q6GQY5|Q8TAQ8	Silent	SNP	ENST00000278505.4	37	CCDS41699.1																																																																																				0.522	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		G	94862593	T	G	94862593	2	3	330	1	0	0	0	0	0	0	0	1	5116	1828	64	5		5	ENDOD1	11	94862593	Silent	SNP	T	TCGA-BP-4330-01A-01D-1366-10	30897268	94862593	40143923	30	19322											
SLC38A2	54407	hgsc.bcm.edu;ucsc.edu	37	12	46760866	46760866	+	Silent	SNP	G	G	A	rs36022751	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr12:46760866G>A	ENST00000256689.5	-	6	918	c.474C>T	c.(472-474)aaC>aaT	p.N158N	SLC38A2_ENST00000551374.1_5'Flank|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	158					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TACCTCCAATGTTCTGCATTG	0.383													G|||	11	0.00219649	0.0	0.0014	5008	,	,		18330	0.0		0.0089	False		,,,				2504	0.001				Ovarian(9;448 492 8335 28722 40361)											0								G		4,4400	8.1+/-20.4	0,4,2198	94	98	97		474	3.2	1	12	dbSNP_126	97	90,8510	51.1+/-111.2	0,90,4210	no	coding-synonymous	SLC38A2	NM_018976.4		0,94,6408	AA,AG,GG		1.0465,0.0908,0.7229		158/507	46760866	94,12910	2202	4300	6502	SO:0001819	synonymous_variant	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.474C>T	12.37:g.46760866G>A			Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	CCDS8749.1																																																																																				0.383	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			A	46760866	G	A	46760866	2	1	330	1	0	0	0	0	0	0	0	1	14610	1368	48	2		2	SLC38A2	12	46760866	Silent	SNP	G	TCGA-BP-4330-01A-01D-1366-10		46760866	87091029	31	19323											
RPH3A	22895	hgsc.bcm.edu;ucsc.edu	37	12	113304584	113304584	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr12:113304584T>A	ENST00000389385.4	+	7	880	c.383T>A	c.(382-384)gTg>gAg	p.V128E	RPH3A_ENST00000420983.2_Missense_Mutation_p.V128E|RPH3A_ENST00000415485.3_Missense_Mutation_p.V128E|RPH3A_ENST00000548866.1_Missense_Mutation_p.V79E|RPH3A_ENST00000447659.2_Missense_Mutation_p.V79E|RPH3A_ENST00000551052.1_Missense_Mutation_p.V124E|RPH3A_ENST00000543106.2_Missense_Mutation_p.V128E	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	128	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAGTGCGGAGTGGAGACCAAC	0.567																																																0													129	94	106					12																	113304584		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.383T>A	12.37:g.113304584T>A	ENSP00000374036:p.Val128Glu		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174940	0.78564	.	.	ENSG00000089169	ENST00000543106;ENST00000551593;ENST00000547728;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	4.69	4.69	0.59074	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.117563	0.36555	N	0.002533	D	0.84665	0.5522	M	0.70595	2.14	0.52501	D	0.999957	D;D;D;D	0.63880	0.98;0.988;0.988;0.993	P;P;P;P	0.59357	0.731;0.722;0.722;0.856	D	0.86795	0.1988	10	0.87932	D	0	.	13.4554	0.61195	0.0:0.0:0.0:1.0	.	79;128;128;124	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	E	128;128;128;128;79;61;124;128;128;79;128	ENSP00000440384:V128E;ENSP00000446780:V128E;ENSP00000449613:V128E;ENSP00000374036:V128E;ENSP00000413254:V79E;ENSP00000448100:V61E;ENSP00000448297:V124E;ENSP00000405357:V128E;ENSP00000450216:V128E;ENSP00000450347:V79E;ENSP00000408889:V128E	ENSP00000374036:V128E	V	+	2	0	RPH3A	111788967	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.113000	0.57851	1.878000	0.54408	0.460000	0.39030	GTG		0.567	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		A	113304584	T	A	113304584	3	1	330	1	0	0	0	0	1	0	0	0	13557	1696	59	5	401	5	RPH3A	12	113304584	Missense_Mutation	SNP	T	TCGA-BP-4330-01A-01D-1366-10	66543718	113304584	20547311	32	19324											
DLL4	54567	hgsc.bcm.edu	37	15	41228880	41228880	+	Silent	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr15:41228880G>A	ENST00000249749.5	+	9	1971	c.1695G>A	c.(1693-1695)agG>agA	p.R565R		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	565					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACGGCAGCAGGGAAGCCATGA	0.602																																																0													35	41	39					15																	41228880		2102	4246	6348	SO:0001819	synonymous_variant	54567			AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"delta-like 4 homolog (Drosophila)"			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1695G>A	15.37:g.41228880G>A			Q3KP23|Q9NQT9	Silent	SNP	ENST00000249749.5	37	CCDS45232.1																																																																																				0.602	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			A	41228880	G	A	41228880	2	1	330	1	0	0	0	0	0	0	0	1	4570	1223	43	2		2	DLL4	15	41228880	Silent	SNP	G	TCGA-BP-4330-01A-01D-1366-10		41228880	61302512	33	19325											
NR2F2	7026	hgsc.bcm.edu;ucsc.edu	37	15	96880591	96880591	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr15:96880591T>C	ENST00000394166.3	+	3	2374	c.985T>C	c.(985-987)Tct>Cct	p.S329P	NR2F2_ENST00000421109.2_Missense_Mutation_p.S196P|NR2F2_ENST00000394171.2_Missense_Mutation_p.S176P|NR2F2_ENST00000453270.2_Missense_Mutation_p.S176P	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	329	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTGTGGTCTCTCTGATGTAGC	0.423																																																0													72	71	71					15																	96880591		2197	4298	6495	SO:0001583	missense	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.985T>C	15.37:g.96880591T>C	ENSP00000377721:p.Ser329Pro		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064068	0.55432	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	5.15	5.15	0.70609	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97873	0.9301	M	0.79926	2.475	0.80722	D	1	D;D	0.67145	0.996;0.99	D;D	0.68353	0.957;0.953	D	0.98794	1.0737	10	0.87932	D	0	.	15.2594	0.73610	0.0:0.0:0.0:1.0	.	329;196	P24468;Q3KQR7	COT2_HUMAN;.	P	196;329;176;176	ENSP00000401674:S196P;ENSP00000377721:S329P;ENSP00000377726:S176P;ENSP00000389853:S176P	ENSP00000377721:S329P	S	+	1	0	NR2F2	94681595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.281000	0.72632	2.058000	0.61347	0.533000	0.62120	TCT		0.423	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			C	96880591	T	C	96880591	3	2	330	1	0	0	0	0	1	0	0	0	10630	1551	54	3	1042	3	NR2F2	15	96880591	Missense_Mutation	SNP	T	TCGA-BP-4330-01A-01D-1366-10	55651711	96880591	5650801	34	19326											
MYH11	4629	hgsc.bcm.edu;ucsc.edu	37	16	15931906	15931906	+	Missense_Mutation	SNP	C	C	A	rs111777997		TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr16:15931906C>A	ENST00000300036.5	-	2	313	c.204G>T	c.(202-204)aaG>aaT	p.K68N	MYH11_ENST00000396324.3_Missense_Mutation_p.K68N|MYH11_ENST00000576790.2_Missense_Mutation_p.K68N|MYH11_ENST00000452625.2_Missense_Mutation_p.K68N	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	68					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAACCGTGACCTTCTTGCCAT	0.582			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													314	267	283					16																	15931906		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.204G>T	16.37:g.15931906C>A	ENSP00000300036:p.Lys68Asn		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891868	0.72524	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.84	2.54	0.30619	Myosin, N-terminal, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.87034	0.6077	M	0.83692	2.655	0.80722	D	1	B;D;D;D;D	0.64830	0.401;0.984;0.984;0.984;0.994	B;D;D;P;D	0.66497	0.186;0.912;0.912;0.884;0.944	D	0.85628	0.1268	10	0.59425	D	0.04	.	7.0605	0.25123	0.0:0.6229:0.0:0.3771	.	68;68;68;68;68	Q4G140;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	N	68	ENSP00000300036:K68N;ENSP00000345136:K68N;ENSP00000379616:K68N;ENSP00000407821:K68N	ENSP00000300036:K68N	K	-	3	2	MYH11	15839407	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.263000	0.51546	0.825000	0.34637	-0.136000	0.14681	AAG		0.582	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		A	15931906	C	A	15931906	3	1	330	1	0	0	0	0	1	0	0	0	10033	680	24	4	5934	4	MYH11	16	15931906	Missense_Mutation	SNP	C	TCGA-BP-4330-01A-01D-1366-10		15931906	74422847	35	19327											
ADAD2	161931	hgsc.bcm.edu	37	16	84227694	84227694	+	Intron	SNP	C	C	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr16:84227694C>A	ENST00000315906.5	+	2	470				RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.F167L	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2						RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCAGAGCCTTCCTCCTGAGAA	0.512																																																0													78	75	76					16																	84227694		2200	4300	6500	SO:0001627	intron_variant	161931			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.419-354C>A	16.37:g.84227694C>A			B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243818	0.22796	.	.	ENSG00000140955	ENST00000268624	T	0.17528	2.27	2.4	0.278	0.15673	.	8.667150	0.00166	N	0.000004	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21930	-1.0231	10	0.23302	T	0.38	.	3.4435	0.07472	0.0:0.5649:0.2715:0.1635	.	167	Q8NCV1-2	.	L	167	ENSP00000268624:F167L	ENSP00000268624:F167L	F	+	3	2	ADAD2	82785195	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.124000	0.10595	0.095000	0.17434	0.561000	0.74099	TTC		0.512	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		A	84227694	C	A	84227694	1	1	330	0	1	0	0	0	0	0	0	0	232	854	30	4		4	ADAD2	16	84227694	Intron	SNP	C	TCGA-BP-4330-01A-01D-1366-10	68295788	84227694	6127059	36	19328											
SMG6	23293	hgsc.bcm.edu	37	17	2203323	2203323	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr17:2203323T>C	ENST00000263073.6	-	2	774	c.724A>G	c.(724-726)Aag>Gag	p.K242E	SMG6_ENST00000544865.1_Missense_Mutation_p.K211E	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	242	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAGTAGCGCTTTGCGGAGCCC	0.627																																					Melanoma(59;28 1088 11621 25887 46638 50814)											0													73	76	75					17																	2203323		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.724A>G	17.37:g.2203323T>C	ENSP00000263073:p.Lys242Glu		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698718	0.68501	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.19105	2.18;2.17	5.45	5.45	0.79879	.	0.298566	0.34156	N	0.004205	T	0.35128	0.0921	L	0.29908	0.895	0.58432	D	0.999995	D	0.76494	0.999	D	0.80764	0.994	T	0.10359	-1.0633	10	0.56958	D	0.05	-10.0163	15.5099	0.75772	0.0:0.0:0.0:1.0	.	242	Q86US8	EST1A_HUMAN	E	242;211	ENSP00000263073:K242E;ENSP00000443920:K211E	ENSP00000263073:K242E	K	-	1	0	SMG6	2150073	1.000000	0.71417	0.999000	0.59377	0.690000	0.40134	4.522000	0.60539	2.060000	0.61445	0.533000	0.62120	AAG		0.627	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			C	2203323	T	C	2203323	3	2	330	1	0	0	0	0	1	0	0	0	14803	1850	64	3	3607	3	SMG6	17	2203323	Missense_Mutation	SNP	T	TCGA-BP-4330-01A-01D-1366-10		2203323	78991887	37	19329											
SHPK	23729	hgsc.bcm.edu;ucsc.edu	37	17	3518702	3518702	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr17:3518702G>T	ENST00000225519.3	-	6	1055	c.953C>A	c.(952-954)gCc>gAc	p.A318D		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	318					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GAGTGACGCGGCCACCCCCAG	0.602																																																0													119	89	99					17																	3518702		2203	4300	6503	SO:0001583	missense	23729			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.953C>A	17.37:g.3518702G>T	ENSP00000225519:p.Ala318Asp		B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114490	0.94339	.	.	ENSG00000197417	ENST00000225519	T	0.29142	1.58	5.33	5.33	0.75918	.	0.101536	0.64402	D	0.000002	T	0.57315	0.2045	M	0.81942	2.565	0.80722	D	1	D	0.64830	0.994	P	0.62491	0.903	T	0.61959	-0.6955	10	0.72032	D	0.01	-2.9621	18.4479	0.90691	0.0:0.0:1.0:0.0	.	318	Q9UHJ6	SHPK_HUMAN	D	318	ENSP00000225519:A318D	ENSP00000225519:A318D	A	-	2	0	SHPK	3465451	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.047000	0.93823	2.681000	0.91329	0.650000	0.86243	GCC		0.602	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			T	3518702	G	T	3518702	3	4	330	1	0	0	0	0	1	0	0	0	14296	1203	42	4	491	4	SHPK	17	3518702	Missense_Mutation	SNP	G	TCGA-BP-4330-01A-01D-1366-10	1315379	3518702	77676508	38	19330											
CACNA1G	8913	hgsc.bcm.edu	37	17	48699064	48699064	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr17:48699064T>C	ENST00000359106.5	+	35	5969	c.5969T>C	c.(5968-5970)aTt>aCt	p.I1990T	CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.I1956T|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.I1919T|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.I1979T|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000360761.4_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1990					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACGTCAGAGATTGTGTCTGAA	0.522																																																0													135	129	131					17																	48699064		2138	4231	6369	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5969T>C	17.37:g.48699064T>C	ENSP00000352011:p.Ile1990Thr		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	t	15.01	2.707531	0.48412	.	.	ENSG00000006283	ENST00000354983;ENST00000502264;ENST00000507336;ENST00000359106	D;D;D;D	0.97256	-4.05;-4.31;-4.08;-4.08	4.84	4.84	0.62591	.	5.979430	0.00166	N	0.000010	D	0.97284	0.9112	N	0.22421	0.69	0.34194	D	0.672441	B;B;D;B	0.61080	0.004;0.025;0.989;0.017	B;B;D;B	0.72625	0.022;0.039;0.978;0.033	D	0.91120	0.4929	10	0.22109	T	0.4	.	14.4123	0.67121	0.0:0.0:0.0:1.0	.	1919;1979;1967;1990	O43497-10;Q19QZ7;O43497-4;O43497	.;.;.;CAC1G_HUMAN	T	1956;1919;1979;1990	ENSP00000347078:I1956T;ENSP00000425522:I1919T;ENSP00000420918:I1979T;ENSP00000352011:I1990T	ENSP00000347078:I1956T	I	+	2	0	CACNA1G	46054063	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.505000	0.66981	1.791000	0.52520	0.460000	0.39030	ATT		0.522	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		C	48699064	T	C	48699064	3	2	330	1	0	0	0	0	1	0	0	0	2546	1493	52	3	6374	3	CACNA1G	17	48699064	Missense_Mutation	SNP	T	TCGA-BP-4330-01A-01D-1366-10	45180362	48699064	32496146	39	19331											
LAMA3	3909	hgsc.bcm.edu;ucsc.edu	37	18	21422710	21422710	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr18:21422710T>G	ENST00000313654.9	+	29	3840	c.3599T>G	c.(3598-3600)gTt>gGt	p.V1200G	LAMA3_ENST00000399516.3_Missense_Mutation_p.V1200G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1200	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAGTCCTTGGTTTTGGTGCGT	0.517																																																0													138	150	146					18																	21422710		2014	4173	6187	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3599T>G	18.37:g.21422710T>G	ENSP00000324532:p.Val1200Gly		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.512430	0.44660	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.19532	2.15;2.14	5.93	0.8	0.18672	.	.	.	.	.	T	0.22282	0.0537	M	0.65975	2.015	0.09310	N	1	P;P	0.51653	0.947;0.868	P;B	0.44990	0.466;0.312	T	0.13953	-1.0490	9	0.29301	T	0.29	.	5.7911	0.18361	0.1158:0.1812:0.0:0.703	.	1200;1200	Q6VU67;Q16787	.;LAMA3_HUMAN	G	1200;1200;1198	ENSP00000324532:V1200G;ENSP00000382432:V1200G	ENSP00000324532:V1200G	V	+	2	0	LAMA3	19676708	0.000000	0.05858	0.043000	0.18650	0.922000	0.55478	0.299000	0.19138	0.156000	0.19299	0.533000	0.62120	GTT		0.517	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		G	21422710	T	G	21422710	3	3	330	1	0	0	0	0	1	0	0	0	8609	1725	60	5	3713	5	LAMA3	18	21422710	Missense_Mutation	SNP	T	TCGA-BP-4330-01A-01D-1366-10		21422710	56654538	40	19332											
EPS15L1	58513	hgsc.bcm.edu;ucsc.edu	37	19	16552710	16552710	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr19:16552710A>C	ENST00000248070.6	-	3	297	c.158T>G	c.(157-159)cTt>cGt	p.L53R	CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000455140.2_Missense_Mutation_p.L53R|EPS15L1_ENST00000594975.1_Missense_Mutation_p.L53R|EPS15L1_ENST00000597937.1_Missense_Mutation_p.L53R|EPS15L1_ENST00000535753.2_Missense_Mutation_p.L53R	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	53	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TACCTTCCCAAGGATAATGTC	0.562											OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													114	119	117					19																	16552710		2203	4300	6503	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.158T>G	19.37:g.16552710A>C	ENSP00000248070:p.Leu53Arg	711	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903276	0.72754	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.50813	0.73;0.73;0.73	5.18	5.18	0.71444	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.79411	0.4441	H	0.97440	4.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.86792	0.1986	10	0.87932	D	0	.	14.2102	0.65759	1.0:0.0:0.0:0.0	.	53;53;53;53;53	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	R	53	ENSP00000393313:L53R;ENSP00000248070:L53R;ENSP00000440103:L53R	ENSP00000248070:L53R	L	-	2	0	EPS15L1	16413710	1.000000	0.71417	0.890000	0.34922	0.633000	0.38033	8.608000	0.90895	1.965000	0.57142	0.533000	0.62120	CTT		0.562	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		C	16552710	A	C	16552710	3	2	330	1	0	0	0	0	1	0	0	0	5195	72	3	5	2520	5	EPS15L1	19	16552710	Missense_Mutation	SNP	A	TCGA-BP-4330-01A-01D-1366-10		16552710	42576273	41	19333											
DHX34	9704	hgsc.bcm.edu	37	19	47856609	47856609	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr19:47856609C>T	ENST00000328771.4	+	2	671	c.322C>T	c.(322-324)Ctc>Ttc	p.L108F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	108					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCGCATCAACCTCTCTGTTCT	0.637																																																0													103	100	101					19																	47856609		2203	4300	6503	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.322C>T	19.37:g.47856609C>T	ENSP00000331907:p.Leu108Phe		B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511068	0.27036	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02916	4.11	5.8	4.77	0.60923	.	0.270427	0.24715	N	0.036186	T	0.02533	0.0077	N	0.24115	0.695	0.31645	N	0.647504	B;B	0.23990	0.044;0.095	B;B	0.21360	0.017;0.034	T	0.15867	-1.0422	10	0.37606	T	0.19	.	10.0906	0.42445	0.0:0.8447:0.0:0.1553	.	108;108	Q14147;B4E3G3	DHX34_HUMAN;.	F	108	ENSP00000331907:L108F	ENSP00000257252:L108F	L	+	1	0	DHX34	52548449	0.998000	0.40836	1.000000	0.80357	0.570000	0.35934	0.928000	0.28831	1.483000	0.48342	0.549000	0.68633	CTC		0.637	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		T	47856609	C	T	47856609	3	4	330	1	0	0	0	0	1	0	0	0	4509	681	24	2	324	2	DHX34	19	47856609	Missense_Mutation	SNP	C	TCGA-BP-4330-01A-01D-1366-10	31303899	47856609	11272374	42	19334											
ZNF613	79898	hgsc.bcm.edu	37	19	52448101	52448101	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr19:52448101G>T	ENST00000293471.6	+	6	1644	c.965G>T	c.(964-966)gGg>gTg	p.G322V	ZNF613_ENST00000391794.4_Missense_Mutation_p.G286V	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGCCTGTGTGGGAAGGCCTTC	0.468																																																0													75	79	78					19																	52448101		2203	4300	6503	SO:0001583	missense	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.965G>T	19.37:g.52448101G>T	ENSP00000293471:p.Gly322Val		Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	9.698	1.153799	0.21371	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.07567	3.18;3.18	3.36	-0.11	0.13580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.611610	0.04053	N	0.305051	T	0.36608	0.0973	H	0.96208	3.785	0.44155	D	0.996959	D	0.52996	0.957	P	0.58820	0.846	T	0.36040	-0.9764	10	0.87932	D	0	.	7.0939	0.25299	0.4161:0.0:0.5839:0.0	.	322	Q6PF04	ZN613_HUMAN	V	322;286	ENSP00000293471:G322V;ENSP00000375671:G286V	ENSP00000293471:G322V	G	+	2	0	ZNF613	57139913	0.189000	0.23263	0.144000	0.22314	0.861000	0.49209	0.089000	0.15002	0.077000	0.16863	-0.290000	0.09829	GGG		0.468	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		T	52448101	G	T	52448101	3	4	330	1	0	0	0	0	1	0	0	0	18043	1232	43	4	979	4	ZNF613	19	52448101	Missense_Mutation	SNP	G	TCGA-BP-4330-01A-01D-1366-10	4591492	52448101	6680882	43	19335											
TRIM28	10155	hgsc.bcm.edu	37	19	59060881	59060881	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr19:59060881G>A	ENST00000253024.5	+	13	2135	c.1846G>A	c.(1846-1848)Ggt>Agt	p.G616S	TRIM28_ENST00000341753.6_Missense_Mutation_p.G534S	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	616					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G616S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGCCCCAGGTGGTGGCCCGGG	0.627																																																1	Substitution - Missense(1)	lung(1)											64	63	63					19																	59060881		2203	4300	6503	SO:0001583	missense	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1846G>A	19.37:g.59060881G>A	ENSP00000253024:p.Gly616Ser		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129202	0.37533	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.67698	-0.08;-0.28	4.7	3.66	0.41972	.	0.947826	0.08739	N	0.900861	T	0.40322	0.1112	N	0.03608	-0.345	0.31481	N	0.66717	B;B;B	0.14805	0.001;0.011;0.001	B;B;B	0.11329	0.006;0.002;0.002	T	0.43278	-0.9401	10	0.15066	T	0.55	-6.4994	6.9874	0.24735	0.2138:0.0:0.7862:0.0	.	534;616;616	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	S	616;534	ENSP00000253024:G616S;ENSP00000342232:G534S	ENSP00000253024:G616S	G	+	1	0	TRIM28	63752693	0.980000	0.34600	0.969000	0.41365	0.799000	0.45148	2.106000	0.41835	1.096000	0.41439	0.436000	0.28706	GGT		0.627	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		A	59060881	G	A	59060881	3	1	330	1	0	0	0	0	1	0	0	0	16507	1348	47	2	1896	2	TRIM28	19	59060881	Missense_Mutation	SNP	G	TCGA-BP-4330-01A-01D-1366-10	6612780	59060881	68102	44	19336											
ATRN	8455	hgsc.bcm.edu	37	20	3627468	3627468	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr20:3627468C>A	ENST00000262919.5	+	29	4332	c.4264C>A	c.(4264-4266)Cct>Act	p.P1422T		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1422					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCAGCAGCCCCCTGCACAGCC	0.617																																																0													34	31	32					20																	3627468		2203	4300	6503	SO:0001583	missense	8455			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.4264C>A	20.37:g.3627468C>A	ENSP00000262919:p.Pro1422Thr		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241120	0.39598	.	.	ENSG00000088812	ENST00000262919	T	0.05513	3.43	5.77	5.77	0.91146	.	0.231062	0.39759	N	0.001276	T	0.08537	0.0212	L	0.47716	1.5	0.80722	D	1	B	0.20671	0.047	B	0.18561	0.022	T	0.31138	-0.9954	10	0.12766	T	0.61	-11.8276	19.5778	0.95452	0.0:1.0:0.0:0.0	.	1422	O75882	ATRN_HUMAN	T	1422	ENSP00000262919:P1422T	ENSP00000262919:P1422T	P	+	1	0	ATRN	3575468	0.904000	0.30761	1.000000	0.80357	0.996000	0.88848	2.902000	0.48703	2.728000	0.93425	0.655000	0.94253	CCT		0.617	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		A	3627468	C	A	3627468	3	1	330	1	0	0	0	0	1	0	0	0	1206	623	22	4	4400	4	ATRN	20	3627468	Missense_Mutation	SNP	C	TCGA-BP-4330-01A-01D-1366-10		3627468	59398052	45	19337											
ZNF133	7692	hgsc.bcm.edu	37	20	18297069	18297069	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr20:18297069G>A	ENST00000316358.4	+	4	1671	c.1574G>A	c.(1573-1575)cGa>cAa	p.R525Q	ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.R525Q|ZNF133_ENST00000538547.1_Missense_Mutation_p.R430Q|ZNF133_ENST00000377671.3_Missense_Mutation_p.R524Q|ZNF133_ENST00000535822.1_Missense_Mutation_p.R430Q|ZNF133_ENST00000402618.2_Missense_Mutation_p.R462Q|ZNF133_ENST00000396026.3_Missense_Mutation_p.R528Q|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	525					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TATGTGTGCCGAGAGTGCGGG	0.622																																																0													74	72	73					20																	18297069		2203	4300	6503	SO:0001583	missense	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1574G>A	20.37:g.18297069G>A	ENSP00000346090:p.Arg525Gln		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37		.	.	.	.	.	.	.	.	.	.	G	5.782	0.328668	0.10956	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	4.59	3.63	0.41609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.150448	0.31102	N	0.008246	T	0.06962	0.0177	N	0.03154	-0.405	0.09310	N	1	B;B;P;B	0.35944	0.104;0.223;0.529;0.282	B;B;B;B	0.34652	0.041;0.037;0.187;0.032	T	0.21690	-1.0238	10	0.40728	T	0.16	-15.9528	7.9931	0.30252	0.0:0.1764:0.6409:0.1827	.	462;528;525;524	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	Q	524;528;462;525;430;430;525	ENSP00000366899:R524Q;ENSP00000400897:R528Q;ENSP00000385279:R462Q;ENSP00000383945:R525Q;ENSP00000442978:R430Q;ENSP00000439427:R430Q;ENSP00000346090:R525Q	ENSP00000346090:R525Q	R	+	2	0	ZNF133	18245069	0.000000	0.05858	0.959000	0.39883	0.117000	0.20001	-0.619000	0.05572	1.516000	0.48900	-0.182000	0.12963	CGA		0.622	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		A	18297069	G	A	18297069	3	1	330	1	0	0	0	0	1	0	0	0	17728	1058	37	1	1581	1	ZNF133	20	18297069	Missense_Mutation	SNP	G	TCGA-BP-4330-01A-01D-1366-10	14669601	18297069	44728451	46	19338											
GTSF1L	149699	hgsc.bcm.edu;ucsc.edu	37	20	42355035	42355035	+	Silent	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr20:42355035G>A	ENST00000373003.1	-	1	603	c.300C>T	c.(298-300)agC>agT	p.S100S	GTSF1L_ENST00000373005.2_Intron	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	100							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGATATCGGGGCTGGGAAGGC	0.493																																																0													119	101	107					20																	42355035		2203	4300	6503	SO:0001819	synonymous_variant	149699			AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 65", "family with sequence similarity 112, member A"	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.300C>T	20.37:g.42355035G>A			Q5JWH5	Silent	SNP	ENST00000373003.1	37	CCDS13323.1																																																																																				0.493	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791		A	42355035	G	A	42355035	2	1	330	1	0	0	0	0	0	0	0	1	6889	1194	42	2		2	GTSF1L	20	42355035	Silent	SNP	G	TCGA-BP-4330-01A-01D-1366-10	24057966	42355035	20670485	47	19339											
DIP2A	23181	hgsc.bcm.edu	37	21	47987406	47987406	+	Silent	SNP	G	G	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr21:47987406G>T	ENST00000417564.2	+	38	4608	c.4587G>T	c.(4585-4587)gtG>gtT	p.V1529V	DIP2A_ENST00000400274.1_Silent_p.V1525V|DIP2A_ENST00000318711.7_Silent_p.V1530V|DIP2A_ENST00000479654.1_3'UTR			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1529					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACCTGGTCGTGGGAGTGGTGG	0.642																																																0													89	100	96					21																	47987406		2203	4300	6503	SO:0001819	synonymous_variant	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4587G>T	21.37:g.47987406G>T			A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	CCDS46655.1																																																																																				0.642	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		T	47987406	G	T	47987406	2	4	330	1	0	0	0	0	0	0	0	1	4529	1335	47	4		4	DIP2A	21	47987406	Silent	SNP	G	TCGA-BP-4330-01A-01D-1366-10		47987406	142489	48	19340											
SH3KBP1	30011	hgsc.bcm.edu;ucsc.edu	37	X	19587268	19587268	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chrX:19587268A>T	ENST00000397821.3	-	13	1627	c.1337T>A	c.(1336-1338)cTa>cAa	p.L446Q	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.L185Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.L409Q|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.L208Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	446					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GATGCCAGATAGCGAACTGCC	0.458																																																0													165	138	147					X																	19587268		2203	4300	6503	SO:0001583	missense	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1337T>A	X.37:g.19587268A>T	ENSP00000380921:p.Leu446Gln		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	a	13.97	2.396212	0.42512	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	6.05	6.05	0.98169	.	1.435990	0.04569	N	0.392981	T	0.33352	0.0860	L	0.29908	0.895	0.09310	N	1	B;B;B	0.31009	0.066;0.162;0.303	B;B;B	0.37091	0.057;0.045;0.241	T	0.38478	-0.9659	10	0.49607	T	0.09	-2.8301	11.7095	0.51616	1.0:0.0:0.0:0.0	.	208;446;409	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	Q	431;446;208;409;185;426	ENSP00000380921:L446Q;ENSP00000369039:L208Q;ENSP00000369020:L409Q;ENSP00000442499:L185Q;ENSP00000369049:L426Q	ENSP00000369020:L409Q	L	-	2	0	SH3KBP1	19497189	0.035000	0.19736	0.003000	0.11579	0.949000	0.60115	3.531000	0.53546	2.038000	0.60285	0.478000	0.44815	CTA		0.458	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		T	19587268	A	T	19587268	3	4	330	1	0	0	0	0	1	0	0	0	14261	420	15	5	684	5	SH3KBP1	23	19587268	Missense_Mutation	SNP	A	TCGA-BP-4330-01A-01D-1366-10		19587268	135683292	49	19341											
ZMYM4	9202	hgsc.bcm.edu;ucsc.edu	37	1	35859252	35859252	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr1:35859252G>T	ENST00000314607.6	+	18	2903	c.2823G>T	c.(2821-2823)ttG>ttT	p.L941F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.L852F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	941					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAGGCTTTTGAAGAACAAAG	0.388																																																0													97	91	93					1																	35859252		2203	4300	6503	SO:0001583	missense	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2823G>T	1.37:g.35859252G>T	ENSP00000322915:p.Leu941Phe		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.86|17.86	3.491747|3.491747	0.64074|0.64074	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	.|T;T	.|0.26957	.|1.7;1.73	5.28|5.28	4.13|4.13	0.48395|0.48395	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	.|T	.|0.39911	.|0.1096	M|M	0.66939|0.66939	2.045|2.045	0.50039|0.50039	D|D	0.999844|0.999844	.|D	.|0.69078	.|0.997	.|D	.|0.68765	.|0.96	.|T	.|0.37220	.|-0.9715	.|10	.|0.59425	.|D	.|0.04	-6.27|-6.27	3.0197|3.0197	0.06071|0.06071	0.1414:0.1606:0.533:0.165|0.1414:0.1606:0.533:0.165	.|.	.|941	.|Q5VZL5	.|ZMYM4_HUMAN	X|F	601|941;852	.|ENSP00000322915:L941F;ENSP00000362394:L852F	.|ENSP00000322915:L941F	E|L	+|+	1|3	0|2	ZMYM4|ZMYM4	35631839|35631839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.128000|1.128000	0.31369|0.31369	2.651000|2.651000	0.90000|0.90000	0.585000|0.585000	0.79938|0.79938	GAA|TTG		0.388	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		T	35859252	G	T	35859252	3	4	331	1	0	0	0	0	1	0	0	0	17707	1281	45	4	2893	4	ZMYM4	1	35859252	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10		35859252	213391369	1	19342											
RPL5	6125	hgsc.bcm.edu	37	1	93301855	93301857	+	In_Frame_Del	DEL	TAT	TAT	-	rs188046229		TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	TAT	TAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr1:93301855_93301857delTAT	ENST00000370321.3	+	5	523_525	c.433_435delTAT	c.(433-435)tatdel	p.Y145del	SNORA66_ENST00000515986.1_RNA|SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	145					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CTTCACCTGCTATTTGGATGCAG	0.488																																																0																																										SO:0001651	inframe_deletion	6125			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.433_435delTAT	1.37:g.93301855_93301857delTAT	ENSP00000359345:p.Tyr145del		Q32LZ3|Q53HH6|Q9H3F4	In_Frame_Del	DEL	ENST00000370321.3	37	CCDS741.1																																																																																				0.488	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		-	93301857	TAT	-	93301855	7	5	331	1	0	1	0	1	0	0	0	0	13603	1522	53	0	451	0	RPL5	1	93301855	In_Frame_Del	DEL	TAT	TCGA-BP-4331-01A-01D-1366-10	57442603	93301855	155948766	2	19343											
ETV3L	440695	hgsc.bcm.edu	37	1	157062696	157062696	+	Silent	SNP	G	G	T	rs1176537	byFrequency	TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr1:157062696G>T	ENST00000454449.2	-	5	1115	c.831C>A	c.(829-831)ctC>ctA	p.L277L		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	277	Pro-rich.				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				AGGCCCCTGGGAGGCTCCTAG	0.652													G|||	1121	0.223842	0.0908	0.2637	5008	,	,		16092	0.2381		0.3728	False		,,,				2504	0.2076															0								G		613,3793	255.5+/-260.7	31,551,1621	25	29	27		831	2.8	0.5	1	dbSNP_87	27	3231,5369	457.8+/-364.4	621,1989,1690	no	coding-synonymous	ETV3L	NM_001004341.2		652,2540,3311	TT,TG,GG		37.5698,13.9128,29.5556		277/362	157062696	3844,9162	2203	4300	6503	SO:0001819	synonymous_variant	440695			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.831C>A	1.37:g.157062696G>T				Silent	SNP	ENST00000454449.2	37	CCDS30893.1																																																																																				0.652	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		T	157062696	G	T	157062696	2	4	331	1	0	0	0	0	0	0	0	1	5282	1161	41	4		4	ETV3L	1	157062696	Silent	SNP	G	TCGA-BP-4331-01A-01D-1366-10	63760841	157062696	92187925	3	19344											
ARID4B	51742	hgsc.bcm.edu	37	1	235345429	235345429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr1:235345429C>T	ENST00000264183.3	-	20	3302	c.2805G>A	c.(2803-2805)tgG>tgA	p.W935*	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Nonsense_Mutation_p.W849*|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.W935*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	935					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.W935*(2)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTTTTAGGCCACTGTCCCT	0.463																																																2	Substitution - Nonsense(2)	ovary(2)											65	69	68					1																	235345429		2203	4300	6503	SO:0001587	stop_gained	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2805G>A	1.37:g.235345429C>T	ENSP00000264183:p.Trp935*		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Nonsense_Mutation	SNP	ENST00000264183.3	37	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.628944|4.628944	0.87560|0.87560	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.76343|.	0.3974|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.76971|.	-0.2761|.	3|.	.|0.51188	.|T	.|0.08	-4.2182|-4.2182	18.7115|18.7115	0.91658|0.91658	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	335|935;849;935;935	.|.	.|ENSP00000264183:W935X	G|W	-|-	2|3	0|0	ARID4B|ARID4B	233412052|233412052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.763000|0.763000	0.43281|0.43281	7.320000|7.320000	0.79064|0.79064	2.654000|2.654000	0.90174|0.90174	0.585000|0.585000	0.79938|0.79938	GGC|TGG		0.463	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		T	235345429	C	T	235345429	4	4	331	1	0	0	0	0	0	1	0	0	920	740	26	2	1153	2	ARID4B	1	235345429	Nonsense_Mutation	SNP	C	TCGA-BP-4331-01A-01D-1366-10	78282733	235345429	13905192	4	19345											
SPAST	6683	hgsc.bcm.edu;ucsc.edu	37	2	32362024	32362025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr2:32362024_32362025insC	ENST00000315285.3	+	11	1525_1526	c.1400_1401insC	c.(1399-1404)atagaafs	p.E468fs	SPAST_ENST00000345662.1_Frame_Shift_Ins_p.E436fs	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAATTTCTAATAGAATTTGATG	0.317																																																0																																										SO:0001589	frameshift_variant	6683			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"ATPases / AAA-type"	11233	protein-coding gene	gene with protein product		604277	"spastic paraplegia 4 (autosomal dominant; spastin)"	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	Exception_encountered	2.37:g.32362024_32362025insC	ENSP00000320885:p.Glu468fs			Frame_Shift_Ins	INS	ENST00000315285.3	37	CCDS1778.1																																																																																				0.317	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		C	32362025	-	C	32362024	7	5	331	1	0	1	1	0	0	0	0	0	15002	1406	49	0	1442	0	SPAST	2	32362024	Frame_Shift_Ins	INS	-	TCGA-BP-4331-01A-01D-1366-10		32362024	210837349	5	19346											
IMMT	10989	hgsc.bcm.edu;ucsc.edu	37	2	86406617	86406617	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr2:86406617T>A	ENST00000410111.3	-	3	635	c.248A>T	c.(247-249)gAc>gTc	p.D83V	IMMT_ENST00000409051.2_Missense_Mutation_p.D83V|IMMT_ENST00000442664.2_Missense_Mutation_p.D83V|IMMT_ENST00000449247.2_Missense_Mutation_p.D83V|IMMT_ENST00000254636.5_5'UTR	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	83					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAAGAGTTTGTCTGAGTAAGG	0.398																																																0													59	56	57					2																	86406617		1843	4104	5947	SO:0001583	missense	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.248A>T	2.37:g.86406617T>A	ENSP00000387262:p.Asp83Val		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153184	0.78114	.	.	ENSG00000132305	ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.94	4.94	0.65067	.	0.097205	0.64402	D	0.000002	T	0.53610	0.1807	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.995;0.981;0.996;1.0;0.999;0.997;0.995;0.997;0.996	D;D;D;D;D;D;D;D;D	0.91635	0.972;0.924;0.984;0.999;0.992;0.962;0.972;0.962;0.984	T	0.56842	-0.7912	10	0.59425	D	0.04	-16.0134	14.6142	0.68537	0.0:0.0:0.0:1.0	.	83;83;83;83;83;83;83;83;83	F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;.;.;IMMT_HUMAN	V	83	ENSP00000396899:D83V;ENSP00000387262:D83V;ENSP00000407788:D83V;ENSP00000387227:D83V	ENSP00000366526:D83V	D	-	2	0	IMMT	86260128	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.606000	0.74159	1.856000	0.53863	0.460000	0.39030	GAC		0.398	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		A	86406617	T	A	86406617	3	1	331	1	0	0	0	0	1	0	0	0	7720	1667	58	5	2080	5	IMMT	2	86406617	Missense_Mutation	SNP	T	TCGA-BP-4331-01A-01D-1366-10	54044593	86406617	156792756	6	19347											
THNSL2	55258	hgsc.bcm.edu	37	2	88472689	88472689	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr2:88472689G>T	ENST00000324166.5	+	1	1711	c.20G>T	c.(19-21)aGg>aTg	p.R7M	THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000377254.3_Missense_Mutation_p.R7M|THNSL2_ENST00000343544.4_Missense_Mutation_p.R7M|THNSL2_ENST00000358591.2_Missense_Mutation_p.R7M|THNSL2_ENST00000402102.1_Missense_Mutation_p.R7M	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	7					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GTCAGCACCAGGGGCGTAGCC	0.607																																																0													55	63	61					2																	88472689		2203	4300	6503	SO:0001583	missense	55258				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.20G>T	2.37:g.88472689G>T	ENSP00000327323:p.Arg7Met		B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791094	0.90367	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000419759;ENST00000343544;ENST00000324166	T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45	5.36	5.36	0.76844	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.000000	0.64402	U	0.000003	D	0.83317	0.5228	H	0.97783	4.075	0.51012	D	0.999906	D;D	0.89917	1.0;1.0	D;D	0.78314	0.99;0.991	D	0.89770	0.3953	10	0.87932	D	0	.	18.0741	0.89422	0.0:0.0:1.0:0.0	.	7;7	Q86YJ6;Q86YJ6-2	THNS2_HUMAN;.	M	7	ENSP00000351402:R7M;ENSP00000366464:R7M;ENSP00000384475:R7M;ENSP00000391300:R7M;ENSP00000339563:R7M;ENSP00000327323:R7M	ENSP00000327323:R7M	R	+	2	0	THNSL2	88253804	1.000000	0.71417	0.989000	0.46669	0.944000	0.59088	9.144000	0.94629	2.496000	0.84212	0.561000	0.74099	AGG		0.607	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		T	88472689	G	T	88472689	3	4	331	1	0	0	0	0	1	0	0	0	15868	1000	35	4	22	4	THNSL2	2	88472689	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10	2066072	88472689	154726684	7	19348											
SLC20A1	6574	hgsc.bcm.edu;ucsc.edu	37	2	113420443	113420443	+	Silent	SNP	G	G	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr2:113420443G>T	ENST00000272542.3	+	11	2420	c.1881G>T	c.(1879-1881)gtG>gtT	p.V627V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	627					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTTCTAGGTGGGCTCTGTTG	0.507																																																0													158	139	145					2																	113420443		2203	4300	6503	SO:0001819	synonymous_variant	6574				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1881G>T	2.37:g.113420443G>T			Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	37	CCDS2099.1																																																																																				0.507	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		T	113420443	G	T	113420443	2	4	331	1	0	0	0	0	0	0	0	1	14444	1335	47	4		4	SLC20A1	2	113420443	Silent	SNP	G	TCGA-BP-4331-01A-01D-1366-10	24947754	113420443	129778930	8	19349											
DBI	1622	hgsc.bcm.edu	37	2	120128350	120128350	+	Silent	SNP	C	C	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr2:120128350C>A	ENST00000355857.3	+	3	293	c.162C>A	c.(160-162)gcC>gcA	p.A54A	DBI_ENST00000535617.1_Silent_p.A96A|DBI_ENST00000409094.1_Silent_p.A71A|DBI_ENST00000393103.2_Silent_p.A55A|DBI_ENST00000535757.1_Silent_p.A71A|DBI_ENST00000311521.4_Silent_p.A71A|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000542275.1_Silent_p.A115A	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	54	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						CGGGCAAGGCCAAGTGGGATG	0.423																																																0													75	72	73					2																	120128350		2203	4300	6503	SO:0001819	synonymous_variant	1622			L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"endozepine"	125950	"diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.162C>A	2.37:g.120128350C>A			B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Silent	SNP	ENST00000355857.3	37	CCDS42740.1																																																																																				0.423	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548		A	120128350	C	A	120128350	2	1	331	1	0	0	0	0	0	0	0	1	4253	581	21	4		4	DBI	2	120128350	Silent	SNP	C	TCGA-BP-4331-01A-01D-1366-10	6707907	120128350	123071023	9	19350											
HDLBP	3069	hgsc.bcm.edu;ucsc.edu	37	2	242203956	242203956	+	Silent	SNP	A	A	C			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr2:242203956A>C	ENST00000391975.1	-	4	368	c.141T>G	c.(139-141)ctT>ctG	p.L47L	HDLBP_ENST00000427183.2_Silent_p.L83L|HDLBP_ENST00000310931.4_Silent_p.L47L|HDLBP_ENST00000391976.2_Silent_p.L47L	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	47					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTTTCTCAGGAAGTGGAGGGA	0.522																																																0													158	157	158					2																	242203956		2203	4300	6503	SO:0001819	synonymous_variant	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.141T>G	2.37:g.242203956A>C			B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	A	5.691	0.312054	0.10789	.	.	ENSG00000115677	ENST00000449864	.	.	.	5.64	-4.82	0.03171	.	.	.	.	.	T	0.58495	0.2126	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63363	-0.6654	5	0.87932	D	0	-18.3814	7.7423	0.28848	0.2604:0.3678:0.3718:0.0	.	.	.	.	C	6	.	ENSP00000396202:F6C	F	-	2	0	HDLBP	241852629	1.000000	0.71417	0.000000	0.03702	0.023000	0.10783	0.680000	0.25306	-0.980000	0.03524	-0.376000	0.06991	TTC		0.522	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		C	242203956	A	C	242203956	2	2	331	1	0	0	0	0	0	0	0	1	7027	233	9	5		5	HDLBP	2	242203956	Silent	SNP	A	TCGA-BP-4331-01A-01D-1366-10	122075606	242203956	995417	10	19351											
MYH15	22989	hgsc.bcm.edu	37	3	108224621	108224621	+	Silent	SNP	T	T	C			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr3:108224621T>C	ENST00000273353.3	-	3	260	c.204A>G	c.(202-204)gtA>gtG	p.V68V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	68						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CACTCCCTTTTACCTCAGCCT	0.353																																																0													210	195	200					3																	108224621		1875	4133	6008	SO:0001819	synonymous_variant	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.204A>G	3.37:g.108224621T>C				Silent	SNP	ENST00000273353.3	37	CCDS43127.1																																																																																				0.353	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		C	108224621	T	C	108224621	2	2	331	1	0	0	0	0	0	0	0	1	10036	1741	61	3		3	MYH15	3	108224621	Silent	SNP	T	TCGA-BP-4331-01A-01D-1366-10		108224621	89797809	11	19352											
SH3D19	152503	hgsc.bcm.edu;ucsc.edu	37	4	152048840	152048840	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr4:152048840A>T	ENST00000409252.2	-	19	2893	c.2186T>A	c.(2185-2187)gTa>gAa	p.V729E	SH3D19_ENST00000304527.4_Missense_Mutation_p.V729E|SH3D19_ENST00000514152.1_Missense_Mutation_p.V706E|SH3D19_ENST00000409598.4_Missense_Mutation_p.V706E|SH3D19_ENST00000424281.1_Missense_Mutation_p.V670E|SH3D19_ENST00000455740.1_Missense_Mutation_p.V706E|SH3D19_ENST00000427414.2_Missense_Mutation_p.V670E			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	729					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCCCTTCGGTACTATGGCCAA	0.358																																																0													76	68	70					4																	152048840		2203	4300	6503	SO:0001583	missense	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.2186T>A	4.37:g.152048840A>T	ENSP00000386848:p.Val729Glu		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	A	0.863	-0.734606	0.03111	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.84	0.76	0.18442	Src homology-3 domain (1);	2.107390	0.01930	N	0.041152	T	0.15478	0.0373	N	0.11154	0.105	0.09310	N	1	B;B;B;B	0.12630	0.0;0.006;0.0;0.001	B;B;B;B	0.15052	0.002;0.012;0.004;0.001	T	0.22977	-1.0201	10	0.02654	T	1	0.1242	6.8364	0.23939	0.2801:0.4525:0.2674:0.0	.	729;706;670;484	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	E	706;729;706;670;670;729;706	ENSP00000387030:V706E;ENSP00000302913:V729E;ENSP00000416708:V706E;ENSP00000404542:V670E;ENSP00000415694:V670E;ENSP00000386848:V729E;ENSP00000423449:V706E	ENSP00000302913:V729E	V	-	2	0	SH3D19	152268290	.	.	0.000000	0.03702	0.027000	0.11550	.	.	0.063000	0.16370	-0.462000	0.05337	GTA		0.358	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		T	152048840	A	T	152048840	3	4	331	1	0	0	0	0	1	0	0	0	14255	391	14	5	194	5	SH3D19	4	152048840	Missense_Mutation	SNP	A	TCGA-BP-4331-01A-01D-1366-10		152048840	39105436	12	19353											
THBS4	7060	hgsc.bcm.edu;ucsc.edu	37	5	79351852	79351852	+	Silent	SNP	A	A	T	rs71594659|rs438042	byFrequency	TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr5:79351852A>T	ENST00000350881.2	+	3	727	c.537A>T	c.(535-537)ccA>ccT	p.P179P	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.P88P	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	179	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.P179P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAGGAAGCCACAGGTAGGAA	0.537													A|||	2852	0.569489	0.6536	0.5476	5008	,	,		17271	0.5139		0.5527	False		,,,				2504	0.546															1	Substitution - coding silent(1)	stomach(1)						A		2744,1660		894,956,352	20	24	23		537	-3.2	1	5	dbSNP_80	23	4236,4362		1063,2110,1126	no	coding-synonymous	THBS4	NM_003248.4		1957,3066,1478	TT,TA,AA		49.2673,37.693,46.316		179/962	79351852	6980,6022	2202	4299	6501	SO:0001819	synonymous_variant	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.537A>T	5.37:g.79351852A>T			B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	CCDS4049.1																																																																																				0.537	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			T	79351852	A	T	79351852	2	4	331	1	0	0	0	0	0	0	0	1	15861	146	6	5		5	THBS4	5	79351852	Silent	SNP	A	TCGA-BP-4331-01A-01D-1366-10		79351852	101563408	13	19354											
LOX	4015	hgsc.bcm.edu;ucsc.edu	37	5	121411209	121411209	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr5:121411209A>C	ENST00000231004.4	-	3	1067	c.768T>G	c.(766-768)gaT>gaG	p.D256E	SRFBP1_ENST00000504881.1_3'UTR|LOX_ENST00000513319.1_5'UTR	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	256	Lysyl-oxidase like.				blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TGTGATCATAATCTCTGACAT	0.368																																																0													123	119	121					5																	121411209		2203	4300	6503	SO:0001583	missense	4015				CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.768T>G	5.37:g.121411209A>C	ENSP00000231004:p.Asp256Glu		B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353264	0.61293	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.32515	1.45	5.61	-1.92	0.07618	.	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	L	0.58302	1.8	0.44807	D	0.997814	B	0.29188	0.236	B	0.37091	0.241	T	0.37454	-0.9705	10	0.56958	D	0.05	.	13.8038	0.63218	0.4381:0.0:0.5619:0.0	.	256	P28300	LYOX_HUMAN	E	256;216	ENSP00000231004:D256E	ENSP00000231004:D256E	D	-	3	2	LOX	121439108	0.985000	0.35326	0.997000	0.53966	0.955000	0.61496	0.245000	0.18142	-0.120000	0.11809	-0.290000	0.09829	GAT		0.368	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			C	121411209	A	C	121411209	3	2	331	1	0	0	0	0	1	0	0	0	8900	98	4	5	505	5	LOX	5	121411209	Missense_Mutation	SNP	A	TCGA-BP-4331-01A-01D-1366-10	42059357	121411209	59504051	14	19355											
NMUR2	56923	hgsc.bcm.edu;ucsc.edu	37	5	151784054	151784054	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr5:151784054G>C	ENST00000255262.3	-	1	786	c.621C>G	c.(619-621)atC>atG	p.I207M	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	207					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACATGGGCTTGATGACCGTAC	0.542																																																0													178	170	173					5																	151784054		2203	4300	6503	SO:0001583	missense	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.621C>G	5.37:g.151784054G>C	ENSP00000255262:p.Ile207Met		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377417	0.24944	.	.	ENSG00000132911	ENST00000255262	T	0.36878	1.23	5.44	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.431439	0.23167	N	0.051171	T	0.30759	0.0775	L	0.38175	1.15	0.22961	N	0.998501	P	0.46784	0.884	P	0.49799	0.622	T	0.08310	-1.0728	10	0.42905	T	0.14	-14.7733	4.0007	0.09579	0.2279:0.0:0.4708:0.3013	.	207	Q9GZQ4	NMUR2_HUMAN	M	207	ENSP00000255262:I207M	ENSP00000255262:I207M	I	-	3	3	NMUR2	151764247	0.993000	0.37304	0.725000	0.30721	0.163000	0.22366	0.578000	0.23773	0.259000	0.21709	0.585000	0.79938	ATC		0.542	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		C	151784054	G	C	151784054	3	2	331	1	0	0	0	0	1	0	0	0	10509	1280	45	4	642	4	NMUR2	5	151784054	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10	30372845	151784054	29131206	15	19356											
CYFIP2	26999	hgsc.bcm.edu;ucsc.edu	37	5	156742017	156742017	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr5:156742017A>G	ENST00000521420.1	+	12	1284	c.1193A>G	c.(1192-1194)aAc>aGc	p.N398S	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.N424S|CYFIP2_ENST00000347377.6_Missense_Mutation_p.N424S|CYFIP2_ENST00000318218.6_Missense_Mutation_p.N424S|CYFIP2_ENST00000522463.1_Missense_Mutation_p.N228S|CYFIP2_ENST00000541131.1_Missense_Mutation_p.N349S|CYFIP2_ENST00000435847.2_Missense_Mutation_p.N98S					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGTTCTGCAACAAGGACTGT	0.498																																																0													58	58	58					5																	156742017		2032	4193	6225	SO:0001583	missense	26999			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1193A>G	5.37:g.156742017A>G	ENSP00000430904:p.Asn398Ser			Missense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	A	27.3	4.815901	0.90790	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.60455	1.87	0.80722	D	1	B;B;D;D;P;P	0.63046	0.142;0.45;0.975;0.992;0.858;0.646	B;B;P;P;P;P	0.61722	0.099;0.394;0.739;0.889;0.577;0.893	T	0.44221	-0.9342	10	0.45353	T	0.12	-37.4899	15.578	0.76408	1.0:0.0:0.0:0.0	.	288;228;398;424;424;424	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	S	424;228;398;424;424;349;98	ENSP00000325817:N424S;ENSP00000428009:N228S;ENSP00000430904:N398S;ENSP00000313567:N424S;ENSP00000366799:N424S;ENSP00000444645:N349S;ENSP00000403793:N98S	ENSP00000325817:N424S	N	+	2	0	CYFIP2	156674595	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.230000	0.95299	2.085000	0.62840	0.459000	0.35465	AAC		0.498	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		G	156742017	A	G	156742017	3	3	331	1	0	0	0	0	1	0	0	0	4140	43	2	3	1317	3	CYFIP2	5	156742017	Missense_Mutation	SNP	A	TCGA-BP-4331-01A-01D-1366-10	4957963	156742017	24173243	16	19357											
HIST1H1C	3006	hgsc.bcm.edu	37	6	26056015	26056015	+	Silent	SNP	C	C	T	rs11540003		TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr6:26056015C>T	ENST00000343677.2	-	1	684	c.642G>A	c.(640-642)taG>taA	p.*214*		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	0					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.*214Y(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						AGGCGTTCGCCTATTTCTTCT	0.473																																																1	Nonstop extension(1)	ovary(1)																																								SO:0001819	synonymous_variant	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.642G>A	6.37:g.26056015C>T			A8K4I2	Silent	SNP	ENST00000343677.2	37	CCDS4577.1																																																																																				0.473	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		T	26056015	C	T	26056015	2	4	331	1	0	0	0	0	0	0	0	1	7126	692	24	2		2	HIST1H1C	6	26056015	Silent	SNP	C	TCGA-BP-4331-01A-01D-1366-10		26056015	145059052	17	19358											
PHTF2	57157	hgsc.bcm.edu;ucsc.edu	37	7	77552042	77552042	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr7:77552042G>A	ENST00000248550.7	+	10	1142	c.1066G>A	c.(1066-1068)Ggt>Agt	p.G356S	PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000422959.2_Missense_Mutation_p.G322S|PHTF2_ENST00000275575.7_Missense_Mutation_p.G318S|PHTF2_ENST00000424760.1_Missense_Mutation_p.G318S|PHTF2_ENST00000307305.8_Missense_Mutation_p.G318S|PHTF2_ENST00000450574.1_Missense_Mutation_p.G322S|PHTF2_ENST00000415251.2_Missense_Mutation_p.G318S|PHTF2_ENST00000416283.2_Missense_Mutation_p.G322S			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GACTTCTGAAGGTGTTCTTCG	0.378																																																0													66	63	64					7																	77552042		1867	4098	5965	SO:0001583	missense	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1066G>A	7.37:g.77552042G>A	ENSP00000248550:p.Gly356Ser		A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37		.	.	.	.	.	.	.	.	.	.	G	6.429	0.447322	0.12223	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.72	4.57	0.56435	.	0.298547	0.40385	N	0.001102	T	0.14013	0.0339	N	0.08118	0	0.21325	N	0.999726	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.08055	0.0;0.0;0.0;0.0;0.0;0.003;0.001;0.0;0.001	T	0.31668	-0.9935	9	0.06494	T	0.89	-1.9477	4.8177	0.13374	0.6631:0.0:0.1433:0.1936	.	160;318;181;322;356;322;318;318;318	Q8WVD6;Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;.;.;PHTF2_HUMAN;.;.;.;.	S	322;322;318;318;318;318;322;322;356	.	ENSP00000248550:G356S	G	+	1	0	PHTF2	77389978	1.000000	0.71417	0.985000	0.45067	0.858000	0.48976	2.227000	0.42972	1.007000	0.39238	-0.238000	0.12139	GGT		0.378	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		A	77552042	G	A	77552042	3	1	331	1	0	0	0	0	1	0	0	0	11865	1000	35	2	998	2	PHTF2	7	77552042	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10		77552042	81586621	18	19359											
TRPV6	55503	hgsc.bcm.edu;ucsc.edu	37	7	142575416	142575416	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr7:142575416C>G	ENST00000359396.3	-	3	582	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	113					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCATAGAGCTCAGATGTCATG	0.557																																																0													83	88	86					7																	142575416		2203	4300	6503	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.337G>C	7.37:g.142575416C>G	ENSP00000352358:p.Glu113Gln		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385612	0.61956	.	.	ENSG00000165125	ENST00000359396;ENST00000431833	T;T	0.51574	0.71;0.7	4.86	4.86	0.63082	Ankyrin repeat-containing domain (4);	0.101299	0.64402	D	0.000003	T	0.36853	0.0982	N	0.10707	0.03	0.52099	D	0.999944	P	0.50819	0.939	P	0.53593	0.73	T	0.24476	-1.0159	10	0.44086	T	0.13	-27.037	8.3967	0.32561	0.0:0.7579:0.1567:0.0854	.	113	Q9H1D0	TRPV6_HUMAN	Q	113;40	ENSP00000352358:E113Q;ENSP00000415917:E40Q	ENSP00000352358:E113Q	E	-	1	0	TRPV6	142285538	0.997000	0.39634	0.383000	0.26132	0.865000	0.49528	3.700000	0.54786	2.240000	0.73641	0.655000	0.94253	GAG		0.557	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		G	142575416	C	G	142575416	3	3	331	1	0	0	0	0	1	0	0	0	16605	835	29	4	1892	4	TRPV6	7	142575416	Missense_Mutation	SNP	C	TCGA-BP-4331-01A-01D-1366-10	65023374	142575416	16563247	19	19360											
HTRA4	203100	hgsc.bcm.edu;ucsc.edu	37	8	38840017	38840017	+	Splice_Site	SNP	G	G	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr8:38840017G>T	ENST00000302495.4	+	7	1215	c.1115G>T	c.(1114-1116)gGa>gTa	p.G372V		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	372					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TCCTTTCCAGGAAAGGCGTTT	0.433																																																0													147	145	146					8																	38840017		2203	4300	6503	SO:0001630	splice_region_variant	203100			AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1115-1G>T	8.37:g.38840017G>T			Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500163	0.44455	.	.	ENSG00000169495	ENST00000302495	T	0.32272	1.46	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000005	T	0.34337	0.0894	L	0.55103	1.725	0.80722	D	1	P	0.45986	0.87	B	0.43194	0.411	T	0.06215	-1.0839	9	.	.	.	.	16.6077	0.84835	0.0:0.0:1.0:0.0	.	372	P83105	HTRA4_HUMAN	V	372	ENSP00000305919:G372V	.	G	+	2	0	HTRA4	38959174	1.000000	0.71417	0.991000	0.47740	0.287000	0.27160	7.519000	0.81809	2.595000	0.87683	0.561000	0.74099	GGA		0.433	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692	Missense_Mutation	T	38840017	G	T	38840017	5	4	331	1	0	0	0	0	0	0	1	0	7458	1188	41	4	1141	4	HTRA4	8	38840017	Splice_Site	SNP	G	TCGA-BP-4331-01A-01D-1366-10		38840017	107524005	20	19361											
DFNB31	25861	hgsc.bcm.edu	37	9	117165103	117165103	+	Silent	SNP	G	G	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr9:117165103G>T	ENST00000362057.3	-	12	2823	c.2655C>A	c.(2653-2655)gcC>gcA	p.A885A	DFNB31_ENST00000265134.6_Silent_p.A502A|DFNB31_ENST00000374059.3_Silent_p.A534A	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	885	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGAAGGCCTCGGCGATAATGC	0.587																																																0													70	64	67					9																	117165103		2203	4300	6503	SO:0001819	synonymous_variant	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2655C>A	9.37:g.117165103G>T			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	CCDS6806.1																																																																																				0.587	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		T	117165103	G	T	117165103	2	4	331	1	0	0	0	0	0	0	0	1	4457	1103	39	4		4	DFNB31	9	117165103	Silent	SNP	G	TCGA-BP-4331-01A-01D-1366-10		117165103	24048328	21	19362											
P4HA1	5033	hgsc.bcm.edu;ucsc.edu	37	10	74790028	74790028	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr10:74790028C>T	ENST00000307116.2	-	10	1365	c.1249G>A	c.(1249-1251)Gta>Ata	p.V417I	P4HA1_ENST00000394890.2_Splice_Site|P4HA1_ENST00000412021.2_Splice_Site|P4HA1_ENST00000373008.2_Missense_Mutation_p.V417I|P4HA1_ENST00000263556.3_Splice_Site|P4HA1_ENST00000440381.1_Splice_Site			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	417	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGATTACCTACCTGTAATTCC	0.408																																					Colon(147;367 2405 2662 52127)											0													114	101	105					10																	74790028		2203	4300	6503	SO:0001583	missense	5033				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1249G>A	10.37:g.74790028C>T	ENSP00000307318:p.Val417Ile		C9JL12|Q15082|Q15083|Q5VSQ5	Splice_Site	SNP	ENST00000307116.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.496523|4.496523	0.85069|0.85069	.|.	.|.	ENSG00000122884|ENSG00000122884	ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381|ENST00000307116;ENST00000373008	.|T;T	.|0.79141	.|-1.24;-1.24	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	.|.	.|.	.|.	.|.	.|D	.|0.86218	.|0.5880	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;P	.|0.59767	.|0.986;0.857	.|P;P	.|0.59012	.|0.85;0.699	.|D	.|0.86424	.|0.1756	.|8	.|0.46703	.|T	.|0.11	.|.	18.555|18.555	0.91080|0.91080	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|417;417	.|Q5VSQ6;P13674	.|.;P4HA1_HUMAN	.|I	-1|417	.|ENSP00000307318:V417I;ENSP00000362099:V417I	.|ENSP00000307318:V417I	.|V	-|-	.|1	.|0	P4HA1|P4HA1	74460034|74460034	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	5.877000|5.877000	0.69675|0.69675	2.449000|2.449000	0.82847|0.82847	0.655000|0.655000	0.94253|0.94253	.|GTA		0.408	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		T	74790028	C	T	74790028	3	4	331	1	0	0	0	0	1	0	0	0	11358	521	18	2	379	2	P4HA1	10	74790028	Missense_Mutation	SNP	C	TCGA-BP-4331-01A-01D-1366-10		74790028	60744719	22	19363											
COPB1	1315	hgsc.bcm.edu	37	11	14520433	14520433	+	Silent	SNP	C	C	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr11:14520433C>T	ENST00000249923.3	-	2	342	c.42G>A	c.(40-42)gtG>gtA	p.V14V	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR|COPB1_ENST00000439561.2_Silent_p.V14V	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	14					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AATCCATTGGCACGTTAATTA	0.333																																																0													89	88	88					11																	14520433		2200	4294	6494	SO:0001819	synonymous_variant	1315			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.42G>A	11.37:g.14520433C>T			D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	CCDS7815.1																																																																																				0.333	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		T	14520433	C	T	14520433	2	4	331	1	0	0	0	0	0	0	0	1	3730	697	25	2		2	COPB1	11	14520433	Silent	SNP	C	TCGA-BP-4331-01A-01D-1366-10		14520433	120486083	23	19364											
DBX1	120237	hgsc.bcm.edu	37	11	20177783	20177783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr11:20177783G>A	ENST00000524983.2	-	4	1297	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	DBX1_ENST00000227256.3_Nonsense_Mutation_p.Q376*			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	337	Poly-Glu.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						ATTTCCTCCTGTTCCTCGCCC	0.597																																																0													150	168	161					11																	20177783		2203	4300	6503	SO:0001587	stop_gained	120237					11p15.1	2011-06-20				ENSG00000109851		"Homeoboxes / ANTP class : NKL subclass"	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.1009C>T	11.37:g.20177783G>A	ENSP00000436881:p.Gln337*			Nonsense_Mutation	SNP	ENST00000524983.2	37		.	.	.	.	.	.	.	.	.	.	G	28.9	4.962900	0.92791	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	.	.	.	5.33	4.42	0.53409	.	0.395806	0.22688	N	0.056845	.	.	.	.	.	.	0.43149	D	0.994911	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-16.3187	15.1685	0.72850	0.0:0.8577:0.1423:0.0	.	.	.	.	X	337;376	.	ENSP00000227256:Q376X	Q	-	1	0	DBX1	20134359	0.763000	0.28462	0.754000	0.31244	0.205000	0.24178	2.056000	0.41355	1.255000	0.44051	-0.128000	0.14901	CAG		0.597	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		A	20177783	G	A	20177783	4	1	331	1	0	0	0	0	0	1	0	0	4261	1386	48	2	26	2	DBX1	11	20177783	Nonsense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10	5657350	20177783	114828733	24	19365											
OR9G4	283189	hgsc.bcm.edu	37	11	56510711	56510711	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr11:56510711A>C	ENST00000302957.3	-	1	576	c.577T>G	c.(577-579)Ttc>Gtc	p.F193V		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCATCACAGAAAAAGTGGTCA	0.443																																																0													69	67	68					11																	56510711		2201	4296	6497	SO:0001583	missense	283189			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.577T>G	11.37:g.56510711A>C	ENSP00000307515:p.Phe193Val		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407506	0.62399	.	.	ENSG00000172457	ENST00000302957	T	0.00220	8.52	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000884	T	0.00300	0.0009	M	0.82323	2.585	0.44024	D	0.996746	P	0.38617	0.64	B	0.37550	0.253	T	0.76924	-0.2779	10	0.87932	D	0	-32.3668	13.8217	0.63325	1.0:0.0:0.0:0.0	.	193	Q8NGQ1	OR9G4_HUMAN	V	193	ENSP00000307515:F193V	ENSP00000307515:F193V	F	-	1	0	OR9G4	56267287	1.000000	0.71417	0.991000	0.47740	0.944000	0.59088	5.842000	0.69417	2.131000	0.65755	0.523000	0.50628	TTC		0.443	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		C	56510711	A	C	56510711	3	2	331	1	0	0	0	0	1	0	0	0	11253	14	1	5	409	5	OR9G4	11	56510711	Missense_Mutation	SNP	A	TCGA-BP-4331-01A-01D-1366-10	36332928	56510711	78495805	25	19366											
SIK2	23235	hgsc.bcm.edu;ucsc.edu	37	11	111558776	111558776	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr11:111558776T>A	ENST00000304987.3	+	4	541	c.368T>A	c.(367-369)tTc>tAc	p.F123Y		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGGCGAAAATTCTGGCAAATC	0.398																																																0													115	108	110					11																	111558776		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.368T>A	11.37:g.111558776T>A	ENSP00000305976:p.Phe123Tyr		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	T	35	5.420707	0.96111	.	.	ENSG00000170145	ENST00000304987	T	0.67345	-0.26	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86619	0.5976	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89918	0.4057	10	0.87932	D	0	.	16.3141	0.82909	0.0:0.0:0.0:1.0	.	123	Q9H0K1	SIK2_HUMAN	Y	123	ENSP00000305976:F123Y	ENSP00000305976:F123Y	F	+	2	0	SIK2	111063986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.622000	0.83099	2.326000	0.78906	0.533000	0.62120	TTC		0.398	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		A	111558776	T	A	111558776	3	1	331	1	0	0	0	0	1	0	0	0	14324	1783	62	5	382	5	SIK2	11	111558776	Missense_Mutation	SNP	T	TCGA-BP-4331-01A-01D-1366-10	55048065	111558776	23447740	26	19367											
ITPR2	3709	hgsc.bcm.edu;ucsc.edu	37	12	26589195	26589195	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr12:26589195G>T	ENST00000381340.3	-	48	7144	c.6728C>A	c.(6727-6729)gCt>gAt	p.A2243D		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2243					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GAGAGCAACAGCTAAATTGAT	0.408																																																0													53	55	54					12																	26589195		1920	4127	6047	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6728C>A	12.37:g.26589195G>T	ENSP00000370744:p.Ala2243Asp		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900897	0.72754	.	.	ENSG00000123104	ENST00000381340	D	0.91631	-2.88	4.83	4.83	0.62350	.	0.110325	0.64402	D	0.000010	D	0.90277	0.6959	N	0.22421	0.69	0.80722	D	1	D	0.55605	0.972	P	0.55749	0.783	D	0.90396	0.4399	10	0.59425	D	0.04	.	11.9268	0.52825	0.0793:0.0:0.9207:0.0	.	2243	Q14571	ITPR2_HUMAN	D	2243	ENSP00000370744:A2243D	ENSP00000370744:A2243D	A	-	2	0	ITPR2	26480462	0.571000	0.26659	0.974000	0.42286	0.996000	0.88848	2.808000	0.47963	2.679000	0.91253	0.650000	0.86243	GCT		0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		T	26589195	G	T	26589195	3	4	331	1	0	0	0	0	1	0	0	0	7923	971	34	4	1417	4	ITPR2	12	26589195	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10		26589195	107262700	27	19368											
PDE1B	5153	hgsc.bcm.edu	37	12	54963142	54963142	+	Silent	SNP	C	C	T	rs151025806	byFrequency	TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr12:54963142C>T	ENST00000243052.3	+	4	838	c.402C>T	c.(400-402)ttC>ttT	p.F134F	PDE1B_ENST00000538346.1_Silent_p.F93F|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Silent_p.F114F	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	134					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTGGGATCTTCGTGGAACGGT	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		18945	0.0		0.002	False		,,,				2504	0.0															0								C	,	2,4404	4.2+/-10.8	0,2,2201	49	50	49		402,342	-3.2	1	12	dbSNP_134	49	28,8572	21.6+/-65.8	0,28,4272	no	coding-synonymous,coding-synonymous	PDE1B	NM_000924.3,NM_001165975.2	,	0,30,6473	TT,TC,CC		0.3256,0.0454,0.2307	,	134/537,114/517	54963142	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.402C>T	12.37:g.54963142C>T			Q92825|Q96KP3	Silent	SNP	ENST00000243052.3	37	CCDS8882.1																																																																																				0.622	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			T	54963142	C	T	54963142	2	4	331	1	0	0	0	0	0	0	0	1	11636	883	31	1		1	PDE1B	12	54963142	Silent	SNP	C	TCGA-BP-4331-01A-01D-1366-10	28373947	54963142	78888753	28	19369											
IRAK3	11213	hgsc.bcm.edu;ucsc.edu	37	12	66597547	66597547	+	Missense_Mutation	SNP	C	C	G	rs572325225	byFrequency	TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr12:66597547C>G	ENST00000261233.4	+	2	611	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GTATGTAGACCAAGGTAAAAG	0.418													C|||	2	0.000399361	0.0	0.0	5008	,	,		17494	0.0		0.0	False		,,,				2504	0.002															0													87	82	84					12																	66597547		2203	4300	6503	SO:0001583	missense	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.190C>G	12.37:g.66597547C>G	ENSP00000261233:p.Gln64Glu			Missense_Mutation	SNP	ENST00000261233.4	37	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582987	0.65992	.	.	ENSG00000090376	ENST00000261233	D	0.85013	-1.93	5.93	5.93	0.95920	Death (3);DEATH-like (2);	0.155482	0.43747	D	0.000534	D	0.90817	0.7116	L	0.61218	1.895	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.89648	0.3867	9	.	.	.	-20.5588	15.8335	0.78778	0.0:1.0:0.0:0.0	.	64	Q9Y616	IRAK3_HUMAN	E	64	ENSP00000261233:Q64E	.	Q	+	1	0	IRAK3	64883814	0.983000	0.35010	0.998000	0.56505	0.408000	0.30992	2.655000	0.46707	2.818000	0.97014	0.591000	0.81541	CAA		0.418	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			G	66597547	C	G	66597547	3	3	331	1	0	0	0	0	1	0	0	0	7826	595	21	4	196	4	IRAK3	12	66597547	Missense_Mutation	SNP	C	TCGA-BP-4331-01A-01D-1366-10	11634405	66597547	67254348	29	19370											
TSPAN19	144448	hgsc.bcm.edu;ucsc.edu	37	12	85421765	85421765	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr12:85421765A>T	ENST00000532498.2	-	4	256	c.176T>A	c.(175-177)aTt>aAt	p.I59N	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	59						integral component of membrane (GO:0016021)				ovary(1)	1						TCCAATCAAAATTTGAGAAAT	0.289																																																0													59	55	56					12																	85421765		1806	4063	5869	SO:0001583	missense	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.176T>A	12.37:g.85421765A>T	ENSP00000433816:p.Ile59Asn			Missense_Mutation	SNP	ENST00000532498.2	37	CCDS44949.1	.	.	.	.	.	.	.	.	.	.	A	9.697	1.153511	0.21371	.	.	ENSG00000231738	ENST00000532498;ENST00000547836	T;T	0.81163	-1.46;-1.46	4.4	3.2	0.36748	.	.	.	.	.	T	0.68210	0.2976	L	0.27053	0.805	0.09310	N	1	B	0.25351	0.124	B	0.21917	0.037	T	0.60398	-0.7271	9	0.87932	D	0	.	7.2607	0.26201	0.7941:0.0:0.0:0.2059	.	59	P0C672	TSN19_HUMAN	N	59	ENSP00000433816:I59N;ENSP00000446898:I59N	ENSP00000433816:I59N	I	-	2	0	TSPAN19	83945896	0.148000	0.22702	0.004000	0.12327	0.115000	0.19883	2.631000	0.46502	0.750000	0.32877	0.533000	0.62120	ATT		0.289	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		T	85421765	A	T	85421765	3	4	331	1	0	0	0	0	1	0	0	0	16648	101	4	5	594	5	TSPAN19	12	85421765	Missense_Mutation	SNP	A	TCGA-BP-4331-01A-01D-1366-10	18824218	85421765	48430130	30	19371											
ATP2A2	488	hgsc.bcm.edu;ucsc.edu	37	12	110778740	110778740	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr12:110778740C>A	ENST00000539276.2	+	14	2147	c.2038C>A	c.(2038-2040)Ccc>Acc	p.P680T	ATP2A2_ENST00000308664.6_Missense_Mutation_p.P680T|ATP2A2_ENST00000395494.2_Missense_Mutation_p.P653T			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	680					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCGAGTTGAACCCTCCCACAA	0.498																																																0													55	56	55					12																	110778740		2203	4300	6503	SO:0001583	missense	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2038C>A	12.37:g.110778740C>A	ENSP00000440045:p.Pro680Thr		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088293|5.088293	0.94100|0.94100	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	D;D;D|.	0.98987|.	-5.3;-5.3;-5.3|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.92312|0.92312	0.7561|0.7561	H|H	0.99770|0.99770	4.765|4.765	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.996;0.998|.	D|D	0.95346|0.95346	0.8442|0.8442	10|5	0.87932|.	D|.	0|.	.|.	20.0784|20.0784	0.97758|0.97758	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	653;680;680|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	T|N	680;653;680|570	ENSP00000311186:P680T;ENSP00000378872:P653T;ENSP00000440045:P680T|.	ENSP00000311186:P680T|.	P|T	+|+	1|2	0|0	ATP2A2|ATP2A2	109263123|109263123	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.498	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		A	110778740	C	A	110778740	3	1	331	1	0	0	0	0	1	0	0	0	1137	507	18	4	2092	4	ATP2A2	12	110778740	Missense_Mutation	SNP	C	TCGA-BP-4331-01A-01D-1366-10	25356975	110778740	23073155	31	19372											
MYCBP2	23077	hgsc.bcm.edu;ucsc.edu	37	13	77730192	77730192	+	Splice_Site	SNP	C	C	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr13:77730192C>A	ENST00000544440.2	-	46	6819		c.e46+1		MYCBP2_ENST00000360084.5_Splice_Site|MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000407578.2_Splice_Site					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTTATAATTACCTTCATATTG	0.383																																																0													115	104	108					13																	77730192		2203	4300	6503	SO:0001630	splice_region_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6801+1G>T	13.37:g.77730192C>A				Splice_Site	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	C	26.3	4.725864	0.89298	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2134	0.93766	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYCBP2	76628193	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.487000	0.81328	2.528000	0.85240	0.655000	0.94253	.		0.383	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Intron	A	77730192	C	A	77730192	5	1	331	1	0	0	0	0	0	0	1	0	10020	521	18	4	7272	4	MYCBP2	13	77730192	Splice_Site	SNP	C	TCGA-BP-4331-01A-01D-1366-10		77730192	37439686	32	19373											
UPF3A	65110	hgsc.bcm.edu	37	13	115067470	115067470	+	Silent	SNP	A	A	G			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr13:115067470A>G	ENST00000375299.3	+	9	1328	c.1272A>G	c.(1270-1272)ccA>ccG	p.P424P	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Silent_p.P391P	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	424	Required for association with EIF4A3 and ECJ core components CASC3, MAGOH and RBM8A.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		ACGACAGTCCAGCACCCAGAA	0.552																																																0													22	29	27					13																	115067470		2170	4277	6447	SO:0001819	synonymous_variant	65110			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1272A>G	13.37:g.115067470A>G			A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	A	4.566	0.105144	0.08731	.	.	ENSG00000169062	ENST00000543577	.	.	.	5.05	-1.55	0.08558	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2513	0.20848	0.2534:0.2232:0.5235:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UPF3A	114085572	0.082000	0.21442	0.000000	0.03702	0.013000	0.08279	0.589000	0.23939	-0.587000	0.05890	-1.930000	0.00511	.		0.552	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			G	115067470	A	G	115067470	2	3	331	1	0	0	0	0	0	0	0	1	17010	175	7	3		3	UPF3A	13	115067470	Silent	SNP	A	TCGA-BP-4331-01A-01D-1366-10	37337278	115067470	102408	33	19374											
MDGA2	161357	hgsc.bcm.edu	37	14	47566320	47566320	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr14:47566320G>T	ENST00000399232.2	-	6	1089	c.725C>A	c.(724-726)cCg>cAg	p.P242Q	MDGA2_ENST00000439988.3_Missense_Mutation_p.P311Q|MDGA2_ENST00000357362.3_Missense_Mutation_p.P13Q|MDGA2_ENST00000426342.1_Missense_Mutation_p.P13Q	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	242	Ig-like 3.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTAATTGACGGTGATGCTAA	0.373																																																0													110	101	104					14																	47566320		1866	4098	5964	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.725C>A	14.37:g.47566320G>T	ENSP00000382178:p.Pro242Gln		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	G	27.7	4.859539	0.91433	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.72725	-0.68;0.9;-0.68;0.9	5.65	5.65	0.86999	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	U	0.000092	D	0.90535	0.7034	H	0.98089	4.145	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.93475	0.6822	10	0.87932	D	0	.	18.6475	0.91416	0.0:0.0:1.0:0.0	.	242	Q7Z553	MDGA2_HUMAN	Q	242;13;311;13	ENSP00000400011:P242Q;ENSP00000405456:P13Q;ENSP00000382178:P311Q;ENSP00000349925:P13Q	ENSP00000349925:P13Q	P	-	2	0	MDGA2	46636070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.067000	0.93955	2.821000	0.97095	0.650000	0.86243	CCG		0.373	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		T	47566320	G	T	47566320	3	4	331	1	0	0	0	0	1	0	0	0	9409	1116	39	4	2193	4	MDGA2	14	47566320	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10		47566320	59783220	34	19375											
SPTB	6710	hgsc.bcm.edu	37	14	65237810	65237810	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr14:65237810G>A	ENST00000389721.5	-	26	5623	c.5591C>T	c.(5590-5592)aCa>aTa	p.T1864I	SPTB_ENST00000556626.1_Missense_Mutation_p.T1864I|SPTB_ENST00000542895.1_Missense_Mutation_p.T1864I|SPTB_ENST00000389720.3_Missense_Mutation_p.T1864I|SPTB_ENST00000389722.3_Missense_Mutation_p.T1864I	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1864					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGCATATGCTGTCTGCAGACG	0.627																																																0													118	112	114					14																	65237810		2203	4300	6503	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5591C>T	14.37:g.65237810G>A	ENSP00000374371:p.Thr1864Ile		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397846	0.42512	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.31	5.14	2.26	0.28386	.	0.225350	0.46145	D	0.000316	T	0.30727	0.0774	L	0.57536	1.79	0.28172	N	0.928511	B;B;P	0.35272	0.365;0.119;0.493	B;B;B	0.34180	0.12;0.134;0.177	T	0.18178	-1.0345	10	0.52906	T	0.07	.	7.083	0.25241	0.153:0.0:0.7074:0.1396	.	648;1864;1868	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	I	1868;1864;648;529;1864;1864;1864;1864	ENSP00000374372:T1864I;ENSP00000451324:T529I;ENSP00000451752:T1864I;ENSP00000374371:T1864I;ENSP00000443882:T1864I;ENSP00000374370:T1864I	ENSP00000334218:T648I	T	-	2	0	SPTB	64307563	0.775000	0.28604	0.296000	0.24974	0.922000	0.55478	3.426000	0.52778	0.254000	0.21573	0.462000	0.41574	ACA		0.627	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			A	65237810	G	A	65237810	3	1	331	1	0	0	0	0	1	0	0	0	15123	1377	48	2	1504	2	SPTB	14	65237810	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10	17671490	65237810	42111730	35	19376											
TUBGCP5	114791	hgsc.bcm.edu	37	15	22836163	22836163	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr15:22836163G>A	ENST00000283645.4	+	3	431	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.E101K	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	101					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CAGTATAAAGGAAATAAAGGT	0.323																																																0													106	117	113					15																	22836163		2179	4252	6431	SO:0001583	missense	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.301G>A	15.37:g.22836163G>A	ENSP00000283645:p.Glu101Lys		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.627678	0.28978	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.22539	1.95;1.95	5.51	1.42	0.22433	.	0.437819	0.26571	N	0.023625	T	0.12902	0.0313	L	0.31294	0.92	0.29452	N	0.858417	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.14200	-1.0481	10	0.33940	T	0.23	-8.5694	7.1182	0.25429	0.204:0.1253:0.6706:0.0	.	101;101	Q96RT8;E9PB12	GCP5_HUMAN;.	K	101	ENSP00000283645:E101K;ENSP00000409217:E101K	ENSP00000283645:E101K	E	+	1	0	TUBGCP5	20387604	1.000000	0.71417	0.023000	0.16930	0.608000	0.37181	3.236000	0.51336	0.071000	0.16664	0.655000	0.94253	GAA		0.323	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		A	22836163	G	A	22836163	3	1	331	1	0	0	0	0	1	0	0	0	16774	1175	41	2	311	2	TUBGCP5	15	22836163	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10		22836163	79695229	36	19377											
KIAA1199	57214	hgsc.bcm.edu;ucsc.edu	37	15	81224218	81224218	+	Silent	SNP	A	A	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr15:81224218A>T	ENST00000394685.3	+	22	3050	c.2631A>T	c.(2629-2631)ggA>ggT	p.G877G	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.G877G|KIAA1199_ENST00000220244.3_Silent_p.G877G			Q8WUJ3	CEMIP_HUMAN		877					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAATTAGAGGAATTCAGTTAT	0.468																																																0													80	87	85					15																	81224218		2203	4300	6503	SO:0001819	synonymous_variant	57214																														ENST00000394685.3:c.2631A>T	15.37:g.81224218A>T			Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																				0.468	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			T	81224218	A	T	81224218	2	4	331	1	0	0	0	0	0	0	0	1	8215	233	9	5		5	KIAA1199	15	81224218	Silent	SNP	A	TCGA-BP-4331-01A-01D-1366-10	58388055	81224218	21307174	37	19378											
ADAMTSL3	57188	hgsc.bcm.edu;ucsc.edu	37	15	84651469	84651469	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr15:84651469G>T	ENST00000286744.5	+	21	3313	c.3089G>T	c.(3088-3090)tGg>tTg	p.W1030L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.W1030L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1030						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAGTCACATGGCACAAAATG	0.498																																																0													82	80	80					15																	84651469		2203	4300	6503	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3089G>T	15.37:g.84651469G>T	ENSP00000286744:p.Trp1030Leu		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701534	0.48307	.	.	ENSG00000156218	ENST00000286744	T	0.62639	0.01	5.18	5.18	0.71444	.	0.627741	0.13329	N	0.396102	T	0.79423	0.4443	M	0.66939	2.045	0.54753	D	0.999984	P;D	0.89917	0.941;1.0	P;D	0.83275	0.74;0.996	T	0.77789	-0.2456	10	0.49607	T	0.09	.	18.7118	0.91659	0.0:0.0:1.0:0.0	.	1030;1030	P82987-2;P82987	.;ATL3_HUMAN	L	1030	ENSP00000286744:W1030L	ENSP00000286744:W1030L	W	+	2	0	ADAMTSL3	82442473	1.000000	0.71417	0.994000	0.49952	0.245000	0.25701	5.771000	0.68881	2.406000	0.81754	0.563000	0.77884	TGG		0.498	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		T	84651469	G	T	84651469	3	4	331	1	0	0	0	0	1	0	0	0	276	1357	47	4	3167	4	ADAMTSL3	15	84651469	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10	3427251	84651469	17879923	38	19379											
CREBBP	1387	hgsc.bcm.edu	37	16	3807365	3807365	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr16:3807365G>T	ENST00000262367.5	-	19	4431	c.3622C>A	c.(3622-3624)Cca>Aca	p.P1208T	CREBBP_ENST00000382070.3_Missense_Mutation_p.P1170T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1208	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAAGTCTGTGGGGAAAACTCA	0.388			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													54	49	51					16																	3807365		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3622C>A	16.37:g.3807365G>T	ENSP00000262367:p.Pro1208Thr		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100575	0.56183	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.88431	-2.38;-2.31	6.04	6.04	0.98038	Domain of unknown function DUF902, CREBbp (1);	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94043	0.7311	10	0.62326	D	0.03	-17.7344	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1238;1208	Q4LE28;Q92793	.;CBP_HUMAN	T	1208;1238;1170	ENSP00000262367:P1208T;ENSP00000371502:P1170T	ENSP00000262367:P1208T	P	-	1	0	CREBBP	3747366	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	CCA		0.388	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		T	3807365	G	T	3807365	3	4	331	1	0	0	0	0	1	0	0	0	3863	1232	43	4	3758	4	CREBBP	16	3807365	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10		3807365	86547388	39	19380											
ITGAM	3684	hgsc.bcm.edu	37	16	31309271	31309271	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr16:31309271G>A	ENST00000287497.8	+	14	1778	c.1703G>A	c.(1702-1704)aGc>aAc	p.S568N	ITGAM_ENST00000544665.3_Missense_Mutation_p.S569N			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	568					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCCTCCCATAGCCAGGTGAGA	0.552																																																0													43	46	45					16																	31309271		2193	4298	6491	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1703G>A	16.37:g.31309271G>A	ENSP00000287497:p.Ser568Asn		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452389	0.43531	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.61980	0.06;0.06	3.91	3.91	0.45181	.	.	.	.	.	T	0.80154	0.4571	H	0.97465	4.01	0.40083	D	0.976162	D;D	0.57257	0.979;0.979	P;P	0.51866	0.682;0.682	D	0.86884	0.2044	9	0.72032	D	0.01	.	11.5956	0.50970	0.0:0.0:1.0:0.0	.	568;568	Q4VAK1;P11215	.;ITAM_HUMAN	N	569;568	ENSP00000441691:S569N;ENSP00000287497:S568N	ENSP00000287497:S568N	S	+	2	0	ITGAM	31216772	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	5.459000	0.66685	2.159000	0.67721	0.655000	0.94253	AGC		0.552	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		A	31309271	G	A	31309271	3	1	331	1	0	0	0	0	1	0	0	0	7889	971	34	2	1760	2	ITGAM	16	31309271	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10	27501906	31309271	59045482	40	19381											
TRAF4	9618	hgsc.bcm.edu;ucsc.edu	37	17	27075315	27075315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr17:27075315C>A	ENST00000262395.5	+	5	627	c.498C>A	c.(496-498)taC>taA	p.Y166*	TRAF4_ENST00000444415.3_Nonsense_Mutation_p.Y166*|TRAF4_ENST00000262396.6_Intron|AC010761.10_ENST00000579468.1_RNA|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	166					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGAGTGTCTACTGTGAGAATA	0.582																																																0													50	48	49					17																	27075315		2203	4300	6503	SO:0001587	stop_gained	9618			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.498C>A	17.37:g.27075315C>A	ENSP00000262395:p.Tyr166*		O75615|Q14848|Q2KJU4|Q2PJN8	Nonsense_Mutation	SNP	ENST00000262395.5	37	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851402	0.71719	.	.	ENSG00000076604	ENST00000262395;ENST00000422344;ENST00000444415	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2477	0.87032	0.0:1.0:0.0:0.0	.	.	.	.	X	166;173;166	.	ENSP00000262395:Y166X	Y	+	3	2	TRAF4	24099442	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.161000	0.77505	2.668000	0.90789	0.561000	0.74099	TAC		0.582	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		A	27075315	C	A	27075315	4	1	331	1	0	0	0	0	0	1	0	0	16448	576	20	4	516	4	TRAF4	17	27075315	Nonsense_Mutation	SNP	C	TCGA-BP-4331-01A-01D-1366-10		27075315	54119895	41	19382											
CLTC	1213	hgsc.bcm.edu;ucsc.edu	37	17	57763155	57763155	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr17:57763155G>A	ENST00000269122.3	+	30	5087	c.4813G>A	c.(4813-4815)Gag>Aag	p.E1605K	CLTC_ENST00000393043.1_Missense_Mutation_p.E1605K|CLTC_ENST00000579456.1_Missense_Mutation_p.E542K	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1605	Heavy chain arm.|Proximal segment.|Trimerization. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGTCATGAAGGAGTACTTGAC	0.368			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													130	118	122					17																	57763155		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4813G>A	17.37:g.57763155G>A	ENSP00000269122:p.Glu1605Lys		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496267	0.85069	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.32988	1.43;1.43	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.60650	0.2285	M	0.88241	2.94	0.80722	D	1	B;B	0.31413	0.207;0.322	B;P	0.49332	0.124;0.607	T	0.65442	-0.6167	10	0.87932	D	0	.	19.1348	0.93422	0.0:0.0:1.0:0.0	.	1605;1605	Q00610;Q00610-2	CLH1_HUMAN;.	K	1605	ENSP00000269122:E1605K;ENSP00000376763:E1605K	ENSP00000269122:E1605K	E	+	1	0	CLTC	55117937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.594000	0.87642	0.585000	0.79938	GAG		0.368	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		A	57763155	G	A	57763155	3	1	331	1	0	0	0	0	1	0	0	0	3568	1175	41	2	4931	2	CLTC	17	57763155	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10	30687840	57763155	23432055	42	19383											
TMEM49	81671	hgsc.bcm.edu;ucsc.edu	37	17	57886217	57886217	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr17:57886217G>A	ENST00000262291.4	+	8	1085	c.775G>A	c.(775-777)Gga>Aga	p.G259R	VMP1_ENST00000539763.1_Missense_Mutation_p.G67R|VMP1_ENST00000537567.1_Missense_Mutation_p.G125R|VMP1_ENST00000545362.1_Missense_Mutation_p.G203R|VMP1_ENST00000536180.1_Missense_Mutation_p.G162R	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	259					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TGGATTTTTTGGAATTTTGGC	0.343																																																0													82	82	82					17																	57886217		2203	4300	6503	SO:0001583	missense	0				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.775G>A	17.37:g.57886217G>A	ENSP00000262291:p.Gly259Arg		B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997721	0.74818	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	M	0.91406	3.205	0.80722	D	1	P;P;P;P	0.50528	0.903;0.923;0.881;0.936	P;B;P;P	0.60886	0.7;0.397;0.649;0.88	D	0.88281	0.2936	9	0.87932	D	0	-10.7567	18.4701	0.90771	0.0:0.0:1.0:0.0	.	125;162;203;259	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	R	259;125;67;162;203	.	ENSP00000262291:G259R	G	+	1	0	VMP1	55240999	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.318000	0.96334	2.439000	0.82584	0.313000	0.20887	GGA		0.343	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		A	57886217	G	A	57886217	3	1	331	1	0	0	0	0	1	0	0	0	16178	1349	47	2	801	2	TMEM49	17	57886217	Missense_Mutation	SNP	G	TCGA-BP-4331-01A-01D-1366-10	123062	57886217	23308993	43	19384											
SLC8A2	6543	hgsc.bcm.edu;ucsc.edu	37	19	47940782	47940782	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr19:47940782C>T	ENST00000236877.6	-	8	2442	c.2047G>A	c.(2047-2049)Gcc>Acc	p.A683T	SLC8A2_ENST00000542837.1_Missense_Mutation_p.A439T|SLC8A2_ENST00000539381.1_Missense_Mutation_p.A146T|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	683					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ATTACCAAGGCCAAGTTCGTT	0.532																																																0													172	148	156					19																	47940782		2203	4300	6503	SO:0001583	missense	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2047G>A	19.37:g.47940782C>T	ENSP00000236877:p.Ala683Thr		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457538	0.84317	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.64803	1.37;-0.12;1.23	2.77	2.77	0.32553	.	0.000000	0.64402	D	0.000003	T	0.77294	0.4109	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.80549	-0.1333	10	0.56958	D	0.05	.	13.4529	0.61182	0.0:1.0:0.0:0.0	.	511;683	E9PGS7;Q9UPR5	.;NAC2_HUMAN	T	511;683;146;439	ENSP00000236877:A683T;ENSP00000440588:A146T;ENSP00000437536:A439T	ENSP00000236877:A683T	A	-	1	0	SLC8A2	52632594	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.543000	0.82106	1.867000	0.54127	0.502000	0.49764	GCC		0.532	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			T	47940782	C	T	47940782	3	4	331	1	0	0	0	0	1	0	0	0	14713	739	26	2	730	2	SLC8A2	19	47940782	Missense_Mutation	SNP	C	TCGA-BP-4331-01A-01D-1366-10		47940782	11188201	44	19385											
KLK2	3817	hgsc.bcm.edu	37	19	51378101	51378101	+	Silent	SNP	C	C	A			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr19:51378101C>A	ENST00000325321.3	+	2	396	c.171C>A	c.(169-171)ccC>ccA	p.P57P	KLK2_ENST00000597509.1_3'UTR|AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000358049.4_Silent_p.P57P|KLK2_ENST00000391810.2_Intron			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	57	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TGGTGCACCCCCAGTGGGTGC	0.587			T	ETV4	prostate																																		Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													67	56	59					19																	51378101		2203	4300	6503	SO:0001819	synonymous_variant	3817			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"Kallikreins"	6363	protein-coding gene	gene with protein product		147960	"kallikrein 2, prostatic"			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.171C>A	19.37:g.51378101C>A			B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Silent	SNP	ENST00000325321.3	37	CCDS12808.1																																																																																				0.587	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		A	51378101	C	A	51378101	2	1	331	1	0	0	0	0	0	0	0	1	8406	610	22	4		4	KLK2	19	51378101	Silent	SNP	C	TCGA-BP-4331-01A-01D-1366-10	3437319	51378101	7750882	45	19386											
NLRP11	204801	hgsc.bcm.edu	37	19	56321350	56321350	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr19:56321350T>C	ENST00000589093.1	-	3	719	c.626A>G	c.(625-627)gAc>gGc	p.D209G	NLRP11_ENST00000592953.1_Missense_Mutation_p.D110G|NLRP11_ENST00000443188.1_Missense_Mutation_p.D209G|NLRP11_ENST00000589824.2_Missense_Mutation_p.D209G|NLRP11_ENST00000360133.3_Missense_Mutation_p.D209G			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	209	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGCCTGGCCGTCAGGCCAGTC	0.488																																																0													89	85	86					19																	56321350		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.626A>G	19.37:g.56321350T>C	ENSP00000466285:p.Asp209Gly		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	T	2.914	-0.224760	0.06022	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.79247	-1.25;-1.25	2.48	-1.32	0.09201	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.62551	0.2437	L	0.38175	1.15	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.003	T	0.48080	-0.9066	9	0.40728	T	0.16	.	3.5316	0.07778	0.0:0.2998:0.2035:0.4967	.	209;209	P59045;P59045-2	NAL11_HUMAN;.	G	209	ENSP00000409898:D209G;ENSP00000353251:D209G	ENSP00000353251:D209G	D	-	2	0	NLRP11	61013162	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.151000	0.10175	-0.372000	0.07992	0.496000	0.49642	GAC		0.488	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		C	56321350	T	C	56321350	3	2	331	1	0	0	0	0	1	0	0	0	10475	1667	58	3	2507	3	NLRP11	19	56321350	Missense_Mutation	SNP	T	TCGA-BP-4331-01A-01D-1366-10	4943249	56321350	2807633	46	19387											
SULF2	55959	hgsc.bcm.edu	37	20	46365452	46365452	+	Missense_Mutation	SNP	C	C	A	rs562017382	byFrequency	TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chr20:46365452C>A	ENST00000359930.4	-	3	1261	c.410G>T	c.(409-411)cGg>cTg	p.R137L	SULF2_ENST00000467815.1_Missense_Mutation_p.R137L|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000484875.1_Missense_Mutation_p.R137L|SULF2_ENST00000361612.4_Missense_Mutation_p.R137L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	137					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTCACCTGTCCGGTAGCCAGT	0.617																																																0													92	69	77					20																	46365452		2203	4300	6503	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.410G>T	20.37:g.46365452C>A	ENSP00000353007:p.Arg137Leu		E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092375	0.94149	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06	5.24	5.24	0.73138	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.942;0.999;0.999	D	0.99863	1.1085	10	0.87932	D	0	-17.1006	18.8085	0.92048	0.0:1.0:0.0:0.0	.	137;137;137	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	L	137	ENSP00000353007:R137L;ENSP00000418290:R137L;ENSP00000354662:R137L;ENSP00000418442:R137L;ENSP00000410026:R137L	ENSP00000353007:R137L	R	-	2	0	SULF2	45798859	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	7.814000	0.86154	2.444000	0.82710	0.561000	0.74099	CGG		0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		A	46365452	C	A	46365452	3	1	331	1	0	0	0	0	1	0	0	0	15376	652	23	4	2278	4	SULF2	20	46365452	Missense_Mutation	SNP	C	TCGA-BP-4331-01A-01D-1366-10		46365452	16660068	47	19388											
MED14	9282	hgsc.bcm.edu;ucsc.edu	37	X	40570475	40570475	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chrX:40570475A>T	ENST00000324817.1	-	8	1086	c.968T>A	c.(967-969)cTt>cAt	p.L323H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	323	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACCTGCACAAGGTCTCCCCA	0.403																																																0													124	98	107					X																	40570475		2203	4300	6503	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.968T>A	X.37:g.40570475A>T	ENSP00000323720:p.Leu323His		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.935876	0.34189	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	N	0.03154	-0.405	0.80722	D	1	B	0.23990	0.095	B	0.15484	0.013	T	0.18085	-1.0348	9	0.11182	T	0.66	.	14.8338	0.70166	1.0:0.0:0.0:0.0	.	323	O60244	MED14_HUMAN	H	323	.	ENSP00000323720:L323H	L	-	2	0	MED14	40455419	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.962000	0.93254	1.884000	0.54569	0.486000	0.48141	CTT		0.403	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		T	40570475	A	T	40570475	3	4	331	1	0	0	0	0	1	0	0	0	9434	72	3	5	3492	5	MED14	23	40570475	Missense_Mutation	SNP	A	TCGA-BP-4331-01A-01D-1366-10		40570475	114700085	48	19389											
ATP11C	286410	hgsc.bcm.edu;ucsc.edu	37	X	138908947	138908947	+	Silent	SNP	T	T	C			TCGA-BP-4331-01A-01D-1366-10	TCGA-BP-4331-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	143b6360-f9b9-456a-b409-0afaac1704be	20024ca1-456b-49e1-b984-6cf81ee6e8e9	g.chrX:138908947T>C	ENST00000327569.3	-	2	170	c.72A>G	c.(70-72)acA>acG	p.T24T	ATP11C_ENST00000361648.2_Silent_p.T24T|ATP11C_ENST00000370543.1_Silent_p.T24T|ATP11C_ENST00000359686.2_Silent_p.T24T|ATP11C_ENST00000370557.1_Silent_p.T21T	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	24					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T24T(2)|p.T24fs*21(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAACAAACACTGTGCGTGTGC	0.388																																																3	Substitution - coding silent(2)|Deletion - Frameshift(1)	lung(3)											142	118	126					X																	138908947		2203	4300	6503	SO:0001819	synonymous_variant	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.72A>G	X.37:g.138908947T>C			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	CCDS14668.1																																																																																				0.388	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		C	138908947	T	C	138908947	2	2	331	1	0	0	0	0	0	0	0	1	1121	1567	55	3		3	ATP11C	23	138908947	Silent	SNP	T	TCGA-BP-4331-01A-01D-1366-10	98338472	138908947	16361613	49	19390											
TAS1R2	80834	hgsc.bcm.edu	37	1	19181061	19181061	+	Silent	SNP	G	G	A	rs374543771		TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr1:19181061G>A	ENST00000375371.3	-	3	924	c.903C>T	c.(901-903)tcC>tcT	p.S301S	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	301					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.S301S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCAGGACTCGGAGGCGATCC	0.652																																																1	Substitution - coding silent(1)	central_nervous_system(1)						G		1,4405	2.1+/-5.4	0,1,2202	56	54	55		903	-2.1	1	1		55	0,8600		0,0,4300	no	coding-synonymous	TAS1R2	NM_152232.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		301/840	19181061	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.903C>T	1.37:g.19181061G>A			Q5TZ19	Silent	SNP	ENST00000375371.3	37	CCDS187.1																																																																																				0.652	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			A	19181061	G	A	19181061	2	1	332	1	0	0	0	0	0	0	0	1	15568	1103	39	1		1	TAS1R2	1	19181061	Silent	SNP	G	TCGA-BP-4337-01A-01D-1366-10		19181061	230069560	1	19391											
CLSPN	63967	hgsc.bcm.edu;ucsc.edu	37	1	36205125	36205125	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr1:36205125A>T	ENST00000318121.3	-	19	3206	c.3149T>A	c.(3148-3150)tTg>tAg	p.L1050*	CLSPN_ENST00000373220.3_Nonsense_Mutation_p.L986*|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000520551.1_Nonsense_Mutation_p.L997*|CLSPN_ENST00000251195.5_Nonsense_Mutation_p.L1050*	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1050					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTATTTCCTCAACCTCCTAGA	0.393																																																0													168	158	161					1																	36205125		2203	4300	6503	SO:0001587	stop_gained	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3149T>A	1.37:g.36205125A>T	ENSP00000312995:p.Leu1050*		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Nonsense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	.	.	.	.	.	.	.	.	.	.	A	41	8.605503	0.98881	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	.	.	.	5.6	5.6	0.85130	.	0.282966	0.30714	N	0.009032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6971	16.1578	0.81677	1.0:0.0:0.0:0.0	.	.	.	.	X	1050;1050;986;997	.	ENSP00000251195:L1050X	L	-	2	0	CLSPN	35977712	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	6.695000	0.74593	2.281000	0.76405	0.529000	0.55759	TTG		0.393	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		T	36205125	A	T	36205125	4	4	332	1	0	0	0	0	0	1	0	0	3562	131	5	5	898	5	CLSPN	1	36205125	Nonsense_Mutation	SNP	A	TCGA-BP-4337-01A-01D-1366-10	17024064	36205125	213045496	2	19392											
RGS18	64407	hgsc.bcm.edu	37	1	192150459	192150459	+	Silent	SNP	A	A	G			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr1:192150459A>G	ENST00000367460.3	+	4	502	c.321A>G	c.(319-321)gaA>gaG	p.E107E		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	107	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTAAAACTGAATTCAGTGAAG	0.294																																																0													37	41	40					1																	192150459		2177	4286	6463	SO:0001819	synonymous_variant	64407			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.321A>G	1.37:g.192150459A>G			B2RD23	Silent	SNP	ENST00000367460.3	37	CCDS1374.1																																																																																				0.294	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		G	192150459	A	G	192150459	2	3	332	1	0	0	0	0	0	0	0	1	13306	98	4	3		3	RGS18	1	192150459	Silent	SNP	A	TCGA-BP-4337-01A-01D-1366-10	155945334	192150459	57100162	3	19393											
NBAS	51594	hgsc.bcm.edu;ucsc.edu	37	2	15326915	15326915	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr2:15326915A>T	ENST00000281513.5	-	50	6687	c.6662T>A	c.(6661-6663)tTg>tAg	p.L2221*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.L2101*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2221					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACACATTTTCAAAACTTCATT	0.433																																																0													213	180	191					2																	15326915		2203	4300	6503	SO:0001587	stop_gained	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6662T>A	2.37:g.15326915A>T	ENSP00000281513:p.Leu2221*		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	47|47	13.226484|13.226484	0.99728|0.99728	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283;ENST00000423602|ENST00000442506	.|.	.|.	.|.	6.03|6.03	4.87|4.87	0.63330|0.63330	.|.	0.219020|.	0.39759|.	N|.	0.001266|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|.	D|.	0|.	.|.	11.2435|11.2435	0.48982|0.48982	0.9281:0.0:0.0719:0.0|0.9281:0.0:0.0719:0.0	.|.	.|.	.|.	.|.	X|R	2101;2221;77;75|1269	.|.	ENSP00000281513:L2221X|.	L|X	-|-	2|1	0|0	NBAS|NBAS	15244366|15244366	1.000000|1.000000	0.71417|0.71417	0.169000|0.169000	0.22859|0.22859	0.734000|0.734000	0.41952|0.41952	6.795000|6.795000	0.75140|0.75140	1.092000|1.092000	0.41356|0.41356	0.533000|0.533000	0.62120|0.62120	TTG|TGA		0.433	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		T	15326915	A	T	15326915	4	4	332	1	0	0	0	0	0	1	0	0	10188	131	5	5	465	5	NBAS	2	15326915	Nonsense_Mutation	SNP	A	TCGA-BP-4337-01A-01D-1366-10		15326915	227872458	4	19394											
PRKD3	23683	hgsc.bcm.edu;ucsc.edu	37	2	37520414	37520414	+	Splice_Site	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr2:37520414A>T	ENST00000379066.1	-	3	1051	c.289T>A	c.(289-291)Ttt>Att	p.F97I	PRKD3_ENST00000234179.2_Splice_Site_p.F97I			O94806	KPCD3_HUMAN	protein kinase D3	97					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CACTCTGGAAACTGAGGGATA	0.328																																					Melanoma(80;621 1355 8613 11814 51767)											0													74	70	71					2																	37520414		2203	4300	6503	SO:0001630	splice_region_variant	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.289-1T>A	2.37:g.37520414A>T			D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236663	0.58886	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.64991	-0.13;-0.13	5.23	4.08	0.47627	.	0.057157	0.64402	D	0.000001	T	0.52240	0.1722	L	0.39020	1.185	0.80722	D	1	B;B	0.31077	0.307;0.008	B;B	0.35510	0.204;0.009	T	0.46484	-0.9188	10	0.33141	T	0.24	-17.2281	10.8446	0.46737	0.9259:0.0:0.0741:0.0	.	97;97	O94806-2;O94806	.;KPCD3_HUMAN	I	97	ENSP00000368356:F97I;ENSP00000234179:F97I	ENSP00000234179:F97I	F	-	1	0	PRKD3	37373918	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.481000	0.81124	0.941000	0.37499	0.533000	0.62120	TTT		0.328	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	Missense_Mutation	T	37520414	A	T	37520414	5	4	332	1	0	0	0	0	0	0	1	0	12525	57	2	5	2451	5	PRKD3	2	37520414	Splice_Site	SNP	A	TCGA-BP-4337-01A-01D-1366-10	22193499	37520414	205678959	5	19395											
CCDC148	130940	hgsc.bcm.edu;ucsc.edu	37	2	159033038	159033038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr2:159033038G>A	ENST00000283233.5	-	13	1937	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	CCDC148_ENST00000409187.1_Nonsense_Mutation_p.Q551*|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	542										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATTACCTGCTGTTCATTGTAT	0.348																																																0													118	106	110					2																	159033038		2203	4300	6503	SO:0001587	stop_gained	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1624C>T	2.37:g.159033038G>A	ENSP00000283233:p.Gln542*		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Nonsense_Mutation	SNP	ENST00000283233.5	37	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	G	38	7.158660	0.98103	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	.	.	.	5.82	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-2.316	5.319	0.15872	0.0725:0.1229:0.5522:0.2524	.	.	.	.	X	542;551	.	ENSP00000283233:Q542X	Q	-	1	0	CCDC148	158741284	0.989000	0.36119	1.000000	0.80357	0.990000	0.78478	0.143000	0.16115	0.784000	0.33661	0.555000	0.69702	CAG		0.348	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		A	159033038	G	A	159033038	4	1	332	1	0	0	0	0	0	1	0	0	2784	1386	48	2	159	2	CCDC148	2	159033038	Nonsense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10	121512624	159033038	84166335	6	19396											
SCN3A	6328	hgsc.bcm.edu;ucsc.edu	37	2	165953810	165953810	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr2:165953810T>A	ENST00000360093.3	-	23	4682	c.4191A>T	c.(4189-4191)aaA>aaT	p.K1397N	SCN3A_ENST00000283254.7_Missense_Mutation_p.K1397N|SCN3A_ENST00000409101.3_Missense_Mutation_p.K1348N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1397					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAGTTTACTTTCACGTTTT	0.403																																																0													110	94	99					2																	165953810		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4191A>T	2.37:g.165953810T>A	ENSP00000353206:p.Lys1397Asn		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	22.3	4.267547	0.80469	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98280	-4.28;-4.28;-4.28;-4.84	5.72	4.57	0.56435	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.97898	0.9309	L	0.37750	1.13	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.996;0.996;0.999	D	0.98294	1.0515	10	0.87932	D	0	.	11.6798	0.51451	0.0:0.069:0.0:0.931	.	1397;1348;1348;1348;1397	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	N	1397;1397;1348;1348	ENSP00000353206:K1397N;ENSP00000283254:K1397N;ENSP00000386726:K1348N;ENSP00000403348:K1348N	ENSP00000283254:K1397N	K	-	3	2	SCN3A	165662056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.982000	0.40638	1.112000	0.41740	0.533000	0.62120	AAA		0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		A	165953810	T	A	165953810	3	1	332	1	0	0	0	0	1	0	0	0	13924	1606	56	5	1835	5	SCN3A	2	165953810	Missense_Mutation	SNP	T	TCGA-BP-4337-01A-01D-1366-10	6920772	165953810	77245563	7	19397											
ZC3H15	55854	hgsc.bcm.edu;ucsc.edu	37	2	187370523	187370523	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr2:187370523G>T	ENST00000337859.6	+	8	1148	c.921G>T	c.(919-921)gaG>gaT	p.E307D	ZC3H15_ENST00000544130.1_Missense_Mutation_p.E102D	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	307					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			ATGATGATGAGGAAGCAGATG	0.403																																																0													122	119	120					2																	187370523		2012	4175	6187	SO:0001583	missense	55854				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.921G>T	2.37:g.187370523G>T	ENSP00000338788:p.Glu307Asp		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897720	0.33535	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.30182	1.54	6.17	-1.82	0.07857	.	0.135091	0.64402	D	0.000003	T	0.15609	0.0376	N	0.25144	0.715	0.48511	D	0.999669	B	0.06786	0.001	B	0.06405	0.002	T	0.24476	-1.0159	10	0.10377	T	0.69	-11.3147	11.5006	0.50435	0.7367:0.0:0.2633:0.0	.	307	Q8WU90	ZC3HF_HUMAN	D	307;102;307	ENSP00000338788:E307D	ENSP00000338788:E307D	E	+	3	2	ZC3H15	187078768	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	0.842000	0.27627	-0.219000	0.10003	0.655000	0.94253	GAG		0.403	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		T	187370523	G	T	187370523	3	4	332	1	0	0	0	0	1	0	0	0	17572	991	35	4	951	4	ZC3H15	2	187370523	Missense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10	21416713	187370523	55828850	8	19398											
BAP1	51533	hgsc.bcm.edu;ucsc.edu	37	3	52442567	52442567	+	5'Flank	SNP	G	G	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr3:52442567G>A	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Nonsense_Mutation_p.R60*|BAP1_ENST00000296288.5_Nonsense_Mutation_p.R60*|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.S58fs*8(1)|p.R60*(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GAGACCTTTCGCCGGGACCGG	0.502																																																2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	eye(1)|skin(1)											50	44	46					3																	52442567		2203	4298	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442567G>A	Exception_encountered		K4DI82	Nonsense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	40	8.229026	0.98717	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.641	14.1141	0.65142	0.0:0.0:0.8497:0.1503	.	.	.	.	X	60	.	ENSP00000296288:R60X	R	-	1	2	BAP1	52417607	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.897000	0.69831	2.550000	0.86006	0.655000	0.94253	CGA		0.502	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		A	52442567	G	A	52442567	1	1	332	0	1	0	0	0	0	0	0	0	1311	1095	38	1		1	BAP1	3	52442567	5'Flank	SNP	G	TCGA-BP-4337-01A-01D-1366-10		52442567	145579863	9	19399											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52702660	52702660	+	Splice_Site	SNP	T	T	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr3:52702660T>A	ENST00000296302.7	-	3	239	c.238A>T	c.(238-240)Aat>Tat	p.N80Y	PBRM1_ENST00000409767.1_Splice_Site_p.N80Y|PBRM1_ENST00000410007.1_Splice_Site_p.N80Y|PBRM1_ENST00000394830.3_Splice_Site_p.N80Y|PBRM1_ENST00000356770.4_Splice_Site_p.N80Y|PBRM1_ENST00000337303.4_Splice_Site_p.N80Y|PBRM1_ENST00000409114.3_Splice_Site_p.N80Y|PBRM1_ENST00000409057.1_Splice_Site_p.N80Y			Q86U86	PB1_HUMAN	polybromo 1	80	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTGGTTGATTTCTGttataa	0.289			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													42	40	41					3																	52702660		2202	4297	6499	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.237-1A>T	3.37:g.52702660T>A			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	23.1	4.375848	0.82682	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;2.17	5.26	5.26	0.73747	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	L	0.43598	1.365	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.995;0.999;0.998;0.998;0.98;0.999;0.997	T	0.47873	-0.9083	10	0.62326	D	0.03	-28.6389	15.4781	0.75501	0.0:0.0:0.0:1.0	.	80;80;80;80;80;80;80;80	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	Y	80;80;80;80;80;80;80;80;80;24;80;80;80;80	ENSP00000349213:N80Y;ENSP00000378307:N80Y;ENSP00000296302:N80Y;ENSP00000338302:N80Y;ENSP00000386593:N80Y;ENSP00000386529:N80Y;ENSP00000386643:N80Y;ENSP00000386601:N80Y;ENSP00000387775:N80Y;ENSP00000397662:N24Y;ENSP00000409939:N80Y;ENSP00000389390:N80Y;ENSP00000412401:N80Y;ENSP00000416851:N80Y	ENSP00000296302:N80Y	N	-	1	0	PBRM1	52677700	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.292000	0.78731	2.125000	0.65367	0.533000	0.62120	AAT		0.289	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Missense_Mutation	A	52702660	T	A	52702660	5	1	332	1	0	0	0	0	0	0	1	0	11493	1855	64	5	4774	5	PBRM1	3	52702660	Splice_Site	SNP	T	TCGA-BP-4337-01A-01D-1366-10	260093	52702660	145319770	10	19400											
MYH15	22989	hgsc.bcm.edu;ucsc.edu	37	3	108211422	108211422	+	Missense_Mutation	SNP	C	C	T	rs374694357		TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr3:108211422C>T	ENST00000273353.3	-	10	912	c.856G>A	c.(856-858)Gtg>Atg	p.V286M		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	286	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGGAAAATCACCCTGGACTTT	0.388																																																0								C	MET/VAL	0,3636		0,0,1818	82	76	78		856	4.2	0.5	3		78	2,8170		0,2,4084	no	missense	MYH15	NM_014981.1	21	0,2,5902	TT,TC,CC		0.0245,0.0,0.0169	probably-damaging	286/1947	108211422	2,11806	1818	4086	5904	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.856G>A	3.37:g.108211422C>T	ENSP00000273353:p.Val286Met			Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853379	0.71719	0.0	2.45E-4	ENSG00000144821	ENST00000273353	T	0.80566	-1.39	5.07	4.2	0.49525	Myosin head, motor domain (2);	.	.	.	.	D	0.94847	0.8335	H	0.99948	5.02	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	D	0.96045	0.9027	9	0.87932	D	0	.	13.0278	0.58825	0.0:0.9218:0.0:0.0782	.	286	Q9Y2K3	MYH15_HUMAN	M	286	ENSP00000273353:V286M	ENSP00000273353:V286M	V	-	1	0	MYH15	109694112	1.000000	0.71417	0.530000	0.27963	0.759000	0.43091	4.580000	0.60942	1.145000	0.42336	0.650000	0.86243	GTG		0.388	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		T	108211422	C	T	108211422	3	4	332	1	0	0	0	0	1	0	0	0	10036	507	18	2	5116	2	MYH15	3	108211422	Missense_Mutation	SNP	C	TCGA-BP-4337-01A-01D-1366-10	55508762	108211422	89811008	11	19401											
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130300711	130300711	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr3:130300711G>T	ENST00000358511.6	+	8	3885	c.3854G>T	c.(3853-3855)tGg>tTg	p.W1285L	COL6A6_ENST00000453409.2_Missense_Mutation_p.W1285L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1285	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GATTCTCTATGGGATACATTT	0.348																																																0													163	157	159					3																	130300711		1858	4081	5939	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3854G>T	3.37:g.130300711G>T	ENSP00000351310:p.Trp1285Leu		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.803389|2.803389	0.50315|0.50315	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000511332|ENST00000358511;ENST00000453409	.|T;T	.|0.32753	.|1.44;1.44	6.06|6.06	6.06|6.06	0.98353|0.98353	.|von Willebrand factor, type A (2);	.|.	.|.	.|.	.|.	T|T	0.55114|0.55114	0.1900|0.1900	M|M	0.65498|0.65498	2.005|2.005	0.41980|0.41980	D|D	0.990797|0.990797	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.37244|0.37244	-0.9714|-0.9714	5|9	.|0.23891	.|T	.|0.37	.|.	19.3923|19.3923	0.94587|0.94587	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1285	.|A6NMZ7	.|CO6A6_HUMAN	W|L	43|1285	.|ENSP00000351310:W1285L;ENSP00000399236:W1285L	.|ENSP00000351310:W1285L	G|W	+|+	1|2	0|0	COL6A6|COL6A6	131783401|131783401	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.028000|0.028000	0.11728|0.11728	6.472000|6.472000	0.73567|0.73567	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.348	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		T	130300711	G	T	130300711	3	4	332	1	0	0	0	0	1	0	0	0	3705	1357	47	4	3884	4	COL6A6	3	130300711	Missense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10	22089289	130300711	67721719	12	19402											
PPP2R3A	5523	hgsc.bcm.edu;ucsc.edu	37	3	135745814	135745814	+	Silent	SNP	C	C	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr3:135745814C>T	ENST00000264977.3	+	3	2753	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	PPP2R3A_ENST00000334546.2_Silent_p.F91F|PPP2R3A_ENST00000492624.2_5'UTR|PPP2R3A_ENST00000490467.1_5'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	712					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCCACGGTTCTACTTTCCTG	0.458																																																0													94	89	91					3																	135745814		2203	4300	6503	SO:0001819	synonymous_variant	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2136C>T	3.37:g.135745814C>T			A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	CCDS3087.1																																																																																				0.458	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		T	135745814	C	T	135745814	2	4	332	1	0	0	0	0	0	0	0	1	12393	912	32	2		2	PPP2R3A	3	135745814	Silent	SNP	C	TCGA-BP-4337-01A-01D-1366-10	5445103	135745814	62276616	13	19403											
CXXC4	80319	hgsc.bcm.edu;ucsc.edu	37	4	105393489	105393489	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr4:105393489C>T	ENST00000426831.1	-	2	601	c.587G>A	c.(586-588)tGg>tAg	p.W196*	CXXC4_ENST00000466963.1_5'UTR|CXXC4_ENST00000394767.2_Nonsense_Mutation_p.W365*			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	196					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TTAAAAGAACCATCGGAATGC	0.343																																																0													105	110	108					4																	105393489		2203	4299	6502	SO:0001587	stop_gained	80319				CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.587G>A	4.37:g.105393489C>T	ENSP00000412267:p.Trp196*			Nonsense_Mutation	SNP	ENST00000426831.1	37		.	.	.	.	.	.	.	.	.	.	C	18.41	3.617488	0.66787	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	5.36	5.36	0.76844	.	0.335931	0.28908	N	0.013750	.	.	.	.	.	.	0.32550	N	0.532525	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2917	19.0851	0.93200	0.0:1.0:0.0:0.0	.	.	.	.	X	196	.	ENSP00000378248:W196X	W	-	2	0	CXXC4	105612938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.359000	0.66074	2.508000	0.84585	0.655000	0.94253	TGG		0.343	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		T	105393489	C	T	105393489	4	4	332	1	0	0	0	0	0	1	0	0	4100	595	21	2	13	2	CXXC4	4	105393489	Nonsense_Mutation	SNP	C	TCGA-BP-4337-01A-01D-1366-10		105393489	85760787	14	19404											
SPOCK3	50859	hgsc.bcm.edu;ucsc.edu	37	4	167656201	167656201	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr4:167656201A>T	ENST00000357154.3	-	12	1319	c.1182T>A	c.(1180-1182)gaT>gaA	p.D394E	SPOCK3_ENST00000541637.1_Missense_Mutation_p.D296E|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D262E|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D391E|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D296E|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D274E|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D351E|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D394E|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D391E|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D343E|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D391E|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D394E|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D298E|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D394E	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	394	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		attcatgaaaatcgccactag	0.343																																																0													146	138	141					4																	167656201		2203	4300	6503	SO:0001583	missense	50859			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1182T>A	4.37:g.167656201A>T	ENSP00000349677:p.Asp394Glu		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572409	0.45798	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	1.55;1.53;1.53;1.55;1.55;1.55;1.57;1.46;0.98;1.53;1.56;1.34;0.98;1.23	5.14	-2.99	0.05497	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	M	0.61703	1.905	0.49687	D	0.99981	D;D;D;D;D;D;D	0.89917	0.994;1.0;1.0;0.994;0.994;0.996;0.994	D;D;D;D;D;D;D	0.87578	0.978;0.998;0.996;0.978;0.978;0.99;0.978	T	0.51687	-0.8674	10	0.34782	T	0.22	-12.3794	11.5663	0.50807	0.5937:0.0:0.4063:0.0	.	296;298;343;403;351;391;394	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	E	394;391;391;394;394;394;351;274;296;391;262;343;296;298	ENSP00000349677:D394E;ENSP00000350153:D391E;ENSP00000425570:D391E;ENSP00000420920:D394E;ENSP00000423421:D394E;ENSP00000423606:D394E;ENSP00000426716:D351E;ENSP00000444789:D274E;ENSP00000426318:D296E;ENSP00000425502:D391E;ENSP00000441396:D262E;ENSP00000411344:D343E;ENSP00000445430:D296E;ENSP00000438142:D298E	ENSP00000349677:D394E	D	-	3	2	SPOCK3	167892776	1.000000	0.71417	0.912000	0.35992	0.271000	0.26615	0.873000	0.28052	-0.412000	0.07519	0.519000	0.50382	GAT		0.343	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			T	167656201	A	T	167656201	3	4	332	1	0	0	0	0	1	0	0	0	15086	98	4	5	132	5	SPOCK3	4	167656201	Missense_Mutation	SNP	A	TCGA-BP-4337-01A-01D-1366-10	62262712	167656201	23498075	15	19405											
MFAP3L	9848	hgsc.bcm.edu;ucsc.edu	37	4	170926995	170926995	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr4:170926995A>T	ENST00000361618.3	-	2	341	c.34T>A	c.(34-36)Ttt>Att	p.F12I	MFAP3L_ENST00000506110.1_Missense_Mutation_p.F12I|MFAP3L_ENST00000393702.3_Missense_Mutation_p.F12I|MFAP3L_ENST00000393704.3_5'Flank	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAAGGTAGAAAGCACACAGTC	0.453																																																0													107	103	104					4																	170926995		2203	4300	6503	SO:0001583	missense	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.34T>A	4.37:g.170926995A>T	ENSP00000354583:p.Phe12Ile		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.593360	0.28357	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.87029	-1.81;-2.13;-2.13;-2.1;-2.2	5.77	4.56	0.56223	.	0.245514	0.40908	D	0.000987	D	0.84433	0.5471	M	0.64997	1.995	0.26561	N	0.973732	B	0.02656	0.0	B	0.04013	0.001	T	0.76767	-0.2838	10	0.59425	D	0.04	-2.5211	10.9643	0.47403	0.9286:0.0:0.0714:0.0	.	12	O75121	MFA3L_HUMAN	I	12	ENSP00000354583:F12I;ENSP00000377305:F12I;ENSP00000422571:F12I;ENSP00000425303:F12I;ENSP00000426247:F12I	ENSP00000354583:F12I	F	-	1	0	MFAP3L	171163570	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	3.275000	0.51639	1.093000	0.41377	0.533000	0.62120	TTT		0.453	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		T	170926995	A	T	170926995	3	4	332	1	0	0	0	0	1	0	0	0	9518	72	3	5	1203	5	MFAP3L	4	170926995	Missense_Mutation	SNP	A	TCGA-BP-4337-01A-01D-1366-10	3270794	170926995	20227281	16	19406											
APBB3	10307	hgsc.bcm.edu	37	5	139941190	139941190	+	Silent	SNP	T	T	C			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr5:139941190T>C	ENST00000357560.4	-	8	1172	c.729A>G	c.(727-729)ctA>ctG	p.L243L	APBB3_ENST00000356738.2_Silent_p.L248L|APBB3_ENST00000507279.1_5'Flank|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000508496.2_Silent_p.L20L|APBB3_ENST00000354402.5_Silent_p.L250L|APBB3_ENST00000412920.3_Silent_p.L241L|APBB3_ENST00000358580.5_Silent_p.L243L|APBB3_ENST00000511201.2_Silent_p.L241L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	243	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGCCCATGTAGGGCACTGG	0.542																																																0													128	124	125					5																	139941190		2203	4300	6503	SO:0001819	synonymous_variant	10307			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.729A>G	5.37:g.139941190T>C			B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Silent	SNP	ENST00000357560.4	37	CCDS4229.1																																																																																				0.542	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		C	139941190	T	C	139941190	2	2	332	1	0	0	0	0	0	0	0	1	762	1625	57	3		3	APBB3	5	139941190	Silent	SNP	T	TCGA-BP-4337-01A-01D-1366-10		139941190	40974070	17	19407											
DST	667	hgsc.bcm.edu;ucsc.edu	37	6	56341042	56341042	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr6:56341042A>G	ENST00000361203.3	-	87	20816	c.20809T>C	c.(20809-20811)Tgg>Cgg	p.W6937R	DST_ENST00000244364.6_Missense_Mutation_p.W4634R|DST_ENST00000370754.5_Missense_Mutation_p.W7226R|DST_ENST00000370769.4_Missense_Mutation_p.W7048R|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.W4960R|DST_ENST00000446842.2_Missense_Mutation_p.W6722R|DST_ENST00000370788.2_Missense_Mutation_p.W4851R			Q03001	DYST_HUMAN	dystonin	6937					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATTGCAACCAAGCCAGCAAA	0.483																																																0													58	57	57					6																	56341042		1929	4123	6052	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20809T>C	6.37:g.56341042A>G	ENSP00000354508:p.Trp6937Arg		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	19.44	3.828894	0.71258	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.70045	-0.45;0.11;0.11;-0.45;0.11;0.11;0.11	5.74	5.74	0.90152	.	0.000000	0.51477	D	0.000087	T	0.82231	0.4992	M	0.88979	2.995	0.33968	D	0.646504	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.998;0.999	D	0.85779	0.1360	9	0.72032	D	0.01	.	16.3426	0.83092	1.0:0.0:0.0:0.0	.	4960;7048;7226;7046;4634	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	R	4634;7226;7048;4960;6722;4851;6937	ENSP00000244364:W4634R;ENSP00000359790:W7226R;ENSP00000359805:W7048R;ENSP00000400883:W4960R;ENSP00000393645:W6722R;ENSP00000359824:W4851R;ENSP00000354508:W6937R	ENSP00000244364:W4634R	W	-	1	0	DST	56449001	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	TGG		0.483	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56341042	A	G	56341042	3	3	332	1	0	0	0	0	1	0	0	0	4785	130	5	3	1663	3	DST	6	56341042	Missense_Mutation	SNP	A	TCGA-BP-4337-01A-01D-1366-10		56341042	114774025	18	19408											
KHDRBS2	202559	hgsc.bcm.edu	37	6	62604617	62604617	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr6:62604617G>T	ENST00000281156.4	-	6	1011	c.733C>A	c.(733-735)Cct>Act	p.P245T		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	245	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.P245S(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CGGGCTCGAGGGGTAGGGACA	0.572																																																1	Substitution - Missense(1)	skin(1)											57	57	57					6																	62604617		2203	4300	6503	SO:0001583	missense	202559			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.733C>A	6.37:g.62604617G>T	ENSP00000281156:p.Pro245Thr		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420018	0.62622	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.46819	0.86	5.52	5.52	0.82312	.	0.107759	0.64402	D	0.000005	T	0.37128	0.0992	L	0.53249	1.67	0.52501	D	0.999955	B	0.19706	0.038	B	0.19391	0.025	T	0.25398	-1.0133	10	0.66056	D	0.02	-2.9037	19.7889	0.96450	0.0:0.0:1.0:0.0	.	245	Q5VWX1	KHDR2_HUMAN	T	245	ENSP00000281156:P245T	ENSP00000281156:P245T	P	-	1	0	KHDRBS2	62662576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.851000	0.69481	2.734000	0.93682	0.655000	0.94253	CCT		0.572	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		T	62604617	G	T	62604617	3	4	332	1	0	0	0	0	1	0	0	0	8149	1232	43	4	332	4	KHDRBS2	6	62604617	Missense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10	6263575	62604617	108510450	19	19409											
GRIK2	2898	hgsc.bcm.edu;ucsc.edu	37	6	102266315	102266315	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr6:102266315C>A	ENST00000421544.1	+	9	1764	c.1274C>A	c.(1273-1275)aCa>aAa	p.T425K	GRIK2_ENST00000369137.3_Missense_Mutation_p.T425K|GRIK2_ENST00000369134.4_Missense_Mutation_p.T376K|GRIK2_ENST00000369138.1_Missense_Mutation_p.T425K|GRIK2_ENST00000318991.6_Missense_Mutation_p.T425K|GRIK2_ENST00000413795.1_Missense_Mutation_p.T425K	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	425					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GCGAACATCACAGATTCCTTA	0.363																																																0													224	202	209					6																	102266315		2203	4300	6503	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1274C>A	6.37:g.102266315C>A	ENSP00000397026:p.Thr425Lys		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269370	0.80469	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.30182	2.78;2.73;2.68;2.95;2.73;2.78;1.54;3.6	5.59	5.59	0.84812	.	0.252880	0.39909	N	0.001231	T	0.51007	0.1649	M	0.89095	3.005	0.53688	D	0.999976	P;P;P	0.50156	0.932;0.758;0.932	P;P;P	0.55871	0.786;0.493;0.691	T	0.54853	-0.8231	10	0.42905	T	0.14	.	19.5777	0.95452	0.0:1.0:0.0:0.0	.	425;425;425	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	K	425;425;425;425;425;425;376;387;138;24	ENSP00000397026:T425K;ENSP00000405596:T425K;ENSP00000358134:T425K;ENSP00000358133:T425K;ENSP00000313276:T425K;ENSP00000358130:T376K;ENSP00000391988:T138K;ENSP00000407140:T24K	ENSP00000313276:T425K	T	+	2	0	GRIK2	102373008	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.487000	0.81328	2.636000	0.89361	0.643000	0.83706	ACA		0.363	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			A	102266315	C	A	102266315	3	1	332	1	0	0	0	0	1	0	0	0	6776	478	17	4	1308	4	GRIK2	6	102266315	Missense_Mutation	SNP	C	TCGA-BP-4337-01A-01D-1366-10	39661698	102266315	68848752	20	19410											
PTCH1	5727	hgsc.bcm.edu	37	9	98231217	98231217	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr9:98231217G>T	ENST00000331920.6	-	14	2365	c.2066C>A	c.(2065-2067)cCc>cAc	p.P689H	PTCH1_ENST00000375274.2_Missense_Mutation_p.P688H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P538H|PTCH1_ENST00000430669.2_Missense_Mutation_p.P623H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P623H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P538H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P538H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	689					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.P689L(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACGGTGACGGGCTGCACAGA	0.632																																																2	Substitution - Missense(2)	skin(2)											123	116	119					9																	98231217		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2066C>A	9.37:g.98231217G>T	ENSP00000332353:p.Pro689His		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782729	0.90282	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90955	-2.75;-2.74;-2.73;-2.73;-2.74;-2.73;-2.76	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.93552	0.7942	M	0.74881	2.28	0.80722	D	1	D;D;D;B	0.59357	0.985;0.975;0.964;0.237	P;P;P;B	0.55161	0.77;0.694;0.688;0.122	D	0.93150	0.6549	10	0.41790	T	0.15	-20.4818	18.1325	0.89606	0.0:0.0:1.0:0.0	.	538;623;688;689	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	H	689;623;538;538;125;623;538;688	ENSP00000332353:P689H;ENSP00000389744:P623H;ENSP00000399981:P538H;ENSP00000396135:P538H;ENSP00000410287:P623H;ENSP00000414823:P538H;ENSP00000364423:P688H	ENSP00000332353:P689H	P	-	2	0	PTCH1	97271038	1.000000	0.71417	0.964000	0.40570	0.942000	0.58702	9.308000	0.96247	2.505000	0.84491	0.557000	0.71058	CCC		0.632	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98231217	G	T	98231217	3	4	332	1	0	0	0	0	1	0	0	0	12735	1232	43	4	2317	4	PTCH1	9	98231217	Missense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10		98231217	42982214	21	19411											
KIAA0368	23392	hgsc.bcm.edu;ucsc.edu	37	9	114182377	114182377	+	Silent	SNP	C	C	G			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr9:114182377C>G	ENST00000338205.5	-	15	1698	c.1479G>C	c.(1477-1479)gtG>gtC	p.V493V	KIAA0368_ENST00000259335.4_Silent_p.V671V			Q5VYK3	ECM29_HUMAN	KIAA0368	499					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATTTCACAGCCACTTGTCGAA	0.418																																																0													99	97	98					9																	114182377		1889	4114	6003	SO:0001819	synonymous_variant	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1479G>C	9.37:g.114182377C>G			O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37																																																																																					0.418	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		G	114182377	C	G	114182377	2	3	332	1	0	0	0	0	0	0	0	1	8173	581	21	4		4	KIAA0368	9	114182377	Silent	SNP	C	TCGA-BP-4337-01A-01D-1366-10	15951160	114182377	27031054	22	19412											
C10orf99	387695	hgsc.bcm.edu	37	10	85944492	85944492	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr10:85944492G>T	ENST00000372126.3	+	3	330	c.216G>T	c.(214-216)tgG>tgT	p.W72C	C10orf99_ENST00000472542.1_Intron	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	72						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CCCGCCTTTGGGTGGTGCCTG	0.577																																																0													76	70	72					10																	85944492		2203	4300	6503	SO:0001583	missense	387695			AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.216G>T	10.37:g.85944492G>T	ENSP00000361199:p.Trp72Cys			Missense_Mutation	SNP	ENST00000372126.3	37	CCDS7371.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731794	0.30684	.	.	ENSG00000188373	ENST00000372126	.	.	.	3.83	3.83	0.44106	.	0.000000	0.31922	U	0.006858	T	0.77096	0.4080	.	.	.	0.51767	D	0.999935	D	0.89917	1.0	D	0.87578	0.998	T	0.79720	-0.1685	8	0.87932	D	0	.	11.5422	0.50673	0.0:0.0:1.0:0.0	.	72	Q6UWK7	CJ099_HUMAN	C	72	.	ENSP00000361199:W72C	W	+	3	0	C10orf99	85934472	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.641000	0.54360	2.432000	0.82394	0.585000	0.79938	TGG		0.577	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049114.1	NM_207373		T	85944492	G	T	85944492	3	4	332	1	0	0	0	0	1	0	0	0	1630	1241	43	4	226	4	C10orf99	10	85944492	Missense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10		85944492	49590255	23	19413											
C10orf129	142827	hgsc.bcm.edu;ucsc.edu	37	10	96971678	96971678	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr10:96971678G>A	ENST00000394005.3	+	5	808	c.799G>A	c.(799-801)Ggt>Agt	p.G267S	C10orf129_ENST00000341686.3_Missense_Mutation_p.G267S|C10orf129_ENST00000430183.1_Missense_Mutation_p.G112S			Q6P461	ACSM6_HUMAN		267					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GTGGAGTCTGGGTGATGCCTT	0.493																																																0													174	150	158					10																	96971678		2203	4300	6503	SO:0001583	missense	142827																														ENST00000394005.3:c.799G>A	10.37:g.96971678G>A	ENSP00000377573:p.Gly267Ser		A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	37	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	G	3.006	-0.204883	0.06180	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000430183;ENST00000394005	T;T;T	0.37915	1.17;1.17;1.17	1.84	0.806	0.18708	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.09113	0.0225	N	0.00771	-1.2	0.20821	N	0.999843	B	0.20988	0.05	B	0.18871	0.023	T	0.35351	-0.9792	9	0.02654	T	1	.	6.5165	0.22250	0.0:0.0:0.4954:0.5046	.	267	Q6P461	ACSM6_HUMAN	S	293;267;112;267	ENSP00000340296:G267S;ENSP00000400368:G112S;ENSP00000377573:G267S	ENSP00000340296:G267S	G	+	1	0	C10orf129	96961668	0.211000	0.23529	0.054000	0.19295	0.728000	0.41692	0.355000	0.20163	0.068000	0.16574	0.454000	0.30748	GGT		0.493	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			A	96971678	G	A	96971678	3	1	332	1	0	0	0	0	1	0	0	0	1595	1232	43	2	817	2	C10orf129	10	96971678	Missense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10	11027186	96971678	38563069	24	19414											
TMEM109	79073	hgsc.bcm.edu	37	11	60689310	60689310	+	Silent	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr11:60689310A>T	ENST00000227525.3	+	4	808	c.405A>T	c.(403-405)ggA>ggT	p.G135G	TMEM132A_ENST00000005286.4_5'Flank|TMEM132A_ENST00000453848.2_5'Flank|RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Silent_p.G135G	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	135					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TGCTGTGGGGAGCAGGGGCCC	0.627																																																0													106	110	108					11																	60689310		2203	4299	6502	SO:0001819	synonymous_variant	79073				CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.405A>T	11.37:g.60689310A>T				Silent	SNP	ENST00000227525.3	37	CCDS7996.1																																																																																				0.627	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		T	60689310	A	T	60689310	2	4	332	1	0	0	0	0	0	0	0	1	16030	291	11	5		5	TMEM109	11	60689310	Silent	SNP	A	TCGA-BP-4337-01A-01D-1366-10		60689310	74317206	25	19415											
ARID4A	5926	hgsc.bcm.edu;ucsc.edu	37	14	58790270	58790270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr14:58790270G>T	ENST00000355431.3	+	8	890	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	ARID4A_ENST00000395168.3_Nonsense_Mutation_p.E173*|ARID4A_ENST00000431317.2_Nonsense_Mutation_p.E173*|ARID4A_ENST00000348476.3_Nonsense_Mutation_p.E173*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	173					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTCAATGATGAATTACTAGG	0.388																																																0													151	144	146					14																	58790270		2203	4300	6503	SO:0001587	stop_gained	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.517G>T	14.37:g.58790270G>T	ENSP00000347602:p.Glu173*		Q15991|Q15992|Q15993	Nonsense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	39	7.516654	0.98332	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	.	.	.	5.44	5.44	0.79542	.	0.044346	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-27.875	19.6391	0.95749	0.0:0.0:1.0:0.0	.	.	.	.	X	173;173;173;136;173	.	ENSP00000344556:E173X	E	+	1	0	ARID4A	57860023	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	8.385000	0.90163	2.715000	0.92844	0.655000	0.94253	GAA		0.388	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		T	58790270	G	T	58790270	4	4	332	1	0	0	0	0	0	1	0	0	919	1291	45	4	543	4	ARID4A	14	58790270	Nonsense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10		58790270	48559270	26	19416											
HSPA2	3306	hgsc.bcm.edu	37	14	65008972	65008972	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr14:65008972C>G	ENST00000394709.1	+	2	1481	c.1405C>G	c.(1405-1407)Cct>Gct	p.P469A	HSPA2_ENST00000247207.6_Missense_Mutation_p.P469A|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	469					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)	p.P469S(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGGATTCCCCCTGCGCCTCG	0.587																																					Pancreas(136;1211 1835 24894 31984 38227)											1	Substitution - Missense(1)	skin(1)											55	57	56					14																	65008972		2203	4300	6503	SO:0001583	missense	3306			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1405C>G	14.37:g.65008972C>G	ENSP00000378199:p.Pro469Ala		Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565579	0.45694	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01422	4.91;4.91	5.13	5.13	0.70059	.	0.000000	0.53938	U	0.000045	T	0.08537	0.0212	M	0.87381	2.88	0.53688	D	0.999976	P	0.42692	0.787	P	0.52386	0.697	T	0.00395	-1.1766	10	0.87932	D	0	-17.66	18.6485	0.91421	0.0:1.0:0.0:0.0	.	469	P54652	HSP72_HUMAN	A	469;469;243	ENSP00000378199:P469A;ENSP00000247207:P469A	ENSP00000247207:P469A	P	+	1	0	HSPA2	64078725	1.000000	0.71417	0.997000	0.53966	0.188000	0.23474	7.815000	0.86186	2.399000	0.81585	0.558000	0.71614	CCT		0.587	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			G	65008972	C	G	65008972	3	3	332	1	0	0	0	0	1	0	0	0	7413	623	22	4	1407	4	HSPA2	14	65008972	Missense_Mutation	SNP	C	TCGA-BP-4337-01A-01D-1366-10	6218702	65008972	42340568	27	19417											
SERPINA11	256394	hgsc.bcm.edu;ucsc.edu	37	14	94914808	94914808	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr14:94914808C>A	ENST00000334708.3	-	2	368	c.304G>T	c.(304-306)Ggc>Tgc	p.G102C	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	102					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AATCCCAGGCCCTCCAGGATC	0.617																																																0													79	82	81					14																	94914808		2203	4300	6503	SO:0001583	missense	256394			BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"Serine (or cysteine) peptidase inhibitors"	19193	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.304G>T	14.37:g.94914808C>A	ENSP00000335024:p.Gly102Cys		B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377701	0.61735	.	.	ENSG00000186910	ENST00000334708	D	0.84516	-1.86	4.85	3.95	0.45737	Serpin domain (3);	0.088684	0.47455	D	0.000226	D	0.92655	0.7666	M	0.88570	2.965	0.36116	D	0.845145	D	0.89917	1.0	D	0.91635	0.999	D	0.95043	0.8180	10	0.59425	D	0.04	.	12.3063	0.54904	0.0:0.9172:0.0:0.0828	.	102	Q86U17	SPA11_HUMAN	C	102	ENSP00000335024:G102C	ENSP00000335024:G102C	G	-	1	0	SERPINA11	93984561	0.996000	0.38824	0.963000	0.40424	0.888000	0.51559	2.589000	0.46145	1.236000	0.43740	0.655000	0.94253	GGC		0.617	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		A	94914808	C	A	94914808	3	1	332	1	0	0	0	0	1	0	0	0	14094	623	22	4	980	4	SERPINA11	14	94914808	Missense_Mutation	SNP	C	TCGA-BP-4337-01A-01D-1366-10	29905836	94914808	12434732	28	19418											
CNOT1	23019	hgsc.bcm.edu;ucsc.edu	37	16	58579383	58579385	+	In_Frame_Del	DEL	GTA	GTA	-	rs141705349		TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	GTA	GTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr16:58579383_58579385delGTA	ENST00000317147.5	-	30	4349_4351	c.4017_4019delTAC	c.(4015-4020)actaca>aca	p.1339_1340TT>T	CNOT1_ENST00000245138.4_In_Frame_Del_p.190_191TT>T|CNOT1_ENST00000569240.1_In_Frame_Del_p.1334_1335TT>T|CNOT1_ENST00000441024.2_In_Frame_Del_p.1339_1340TT>T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1339	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.|Thr-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGTAGCTGGTGTAGTAGAAGTTG	0.389																																																0																																										SO:0001651	inframe_deletion	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4017_4019delTAC	16.37:g.58579386_58579388delGTA	ENSP00000320949:p.Thr1340del		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	In_Frame_Del	DEL	ENST00000317147.5	37	CCDS10799.1																																																																																				0.389	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		-	58579385	GTA	-	58579383	7	5	332	1	0	1	0	1	0	0	0	0	3619	1377	48	0	3413	0	CNOT1	16	58579383	In_Frame_Del	DEL	GTA	TCGA-BP-4337-01A-01D-1366-10		58579383	31775370	29	19419											
ACSF2	80221	hgsc.bcm.edu;ucsc.edu	37	17	48548424	48548424	+	Silent	SNP	A	A	G			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr17:48548424A>G	ENST00000300441.4	+	11	1355	c.1251A>G	c.(1249-1251)acA>acG	p.T417T	ACSF2_ENST00000427954.2_Silent_p.T442T|ACSF2_ENST00000541920.1_Silent_p.T257T|CHAD_ENST00000258969.4_5'Flank|ACSF2_ENST00000502667.1_Silent_p.T404T|ACSF2_ENST00000504392.1_Silent_p.T374T|ACSF2_ENST00000506085.1_3'UTR|CHAD_ENST00000508540.1_5'Flank	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	417					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTCCCGTGACATTCGCGCACT	0.552																																																0													112	96	102					17																	48548424		2203	4300	6503	SO:0001819	synonymous_variant	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1251A>G	17.37:g.48548424A>G			B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Silent	SNP	ENST00000300441.4	37	CCDS11567.1																																																																																				0.552	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		G	48548424	A	G	48548424	2	3	332	1	0	0	0	0	0	0	0	1	175	204	8	3		3	ACSF2	17	48548424	Silent	SNP	A	TCGA-BP-4337-01A-01D-1366-10		48548424	32646786	30	19420											
WFIKKN2	124857	hgsc.bcm.edu;ucsc.edu	37	17	48917427	48917427	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr17:48917427G>T	ENST00000311378.4	+	2	1306	c.778G>T	c.(778-780)Gtg>Ttg	p.V260L	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.V167L	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	260	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCCCAACCATGTGCGTGGCAA	0.612																																																0													113	100	104					17																	48917427		2203	4300	6503	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.778G>T	17.37:g.48917427G>T	ENSP00000311184:p.Val260Leu		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801920	0.70682	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.66995	-0.24;-0.24	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060523	0.64402	D	0.000003	T	0.47600	0.1454	N	0.02368	-0.58	0.52099	D	0.999944	P	0.34815	0.47	B	0.37267	0.245	T	0.56553	-0.7960	10	0.45353	T	0.12	.	19.2584	0.93957	0.0:0.0:1.0:0.0	.	260	Q8TEU8	WFKN2_HUMAN	L	167;260	ENSP00000405889:V167L;ENSP00000311184:V260L	ENSP00000311184:V260L	V	+	1	0	WFIKKN2	46272426	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.793000	0.75130	2.533000	0.85409	0.651000	0.88453	GTG		0.612	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		T	48917427	G	T	48917427	3	4	332	1	0	0	0	0	1	0	0	0	17364	1377	48	4	784	4	WFIKKN2	17	48917427	Missense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10	369003	48917427	32277783	31	19421											
ZNF836	162962	hgsc.bcm.edu;ucsc.edu	37	19	52659379	52659379	+	Silent	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr19:52659379A>T	ENST00000322146.8	-	5	2078	c.1557T>A	c.(1555-1557)atT>atA	p.I519I	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.I519I	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTCTGGTATGAATTATCTTAT	0.393																																																0													83	93	90					19																	52659379		2164	4282	6446	SO:0001819	synonymous_variant	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1557T>A	19.37:g.52659379A>T				Silent	SNP	ENST00000322146.8	37	CCDS46162.1																																																																																				0.393	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		T	52659379	A	T	52659379	2	4	332	1	0	0	0	0	0	0	0	1	18192	242	9	5		5	ZNF836	19	52659379	Silent	SNP	A	TCGA-BP-4337-01A-01D-1366-10		52659379	6469604	32	19422											
KIAA0406	9675	hgsc.bcm.edu;ucsc.edu	37	20	36631058	36631058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr20:36631058G>T	ENST00000373448.2	-	5	2862	c.2624C>A	c.(2623-2625)tCa>tAa	p.S875*	TTI1_ENST00000373447.3_Nonsense_Mutation_p.S875*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.S875*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	875					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ATTTTTATCTGACAACAAGTG	0.522																																																0													156	132	140					20																	36631058		2203	4300	6503	SO:0001587	stop_gained	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2624C>A	20.37:g.36631058G>T	ENSP00000362547:p.Ser875*		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Nonsense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	41	9.144620	0.99080	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	.	.	.	5.58	5.58	0.84498	.	0.115090	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.123	18.5691	0.91128	0.0:0.0:1.0:0.0	.	.	.	.	X	875	.	ENSP00000362546:S875X	S	-	2	0	TTI1	36064472	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	8.712000	0.91403	2.632000	0.89209	0.650000	0.86243	TCA		0.522	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		T	36631058	G	T	36631058	4	4	332	1	0	0	0	0	0	1	0	0	8175	1294	45	4	665	4	KIAA0406	20	36631058	Nonsense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10		36631058	26394462	33	19423											
STMN3	50861	hgsc.bcm.edu;ucsc.edu	37	20	62275589	62275589	+	Silent	SNP	G	G	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr20:62275589G>A	ENST00000370053.1	-	2	174	c.93C>T	c.(91-93)ccC>ccT	p.P31P	STMN3_ENST00000540534.1_Silent_p.P20P	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	31					cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			AGACGGTATTGGGGTGCGGCT	0.632																																																0													151	120	131					20																	62275589		2203	4300	6503	SO:0001819	synonymous_variant	50861			AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.93C>T	20.37:g.62275589G>A			B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Silent	SNP	ENST00000370053.1	37	CCDS13529.1																																																																																				0.632	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		A	62275589	G	A	62275589	2	1	332	1	0	0	0	0	0	0	0	1	15315	1335	47	2		2	STMN3	20	62275589	Silent	SNP	G	TCGA-BP-4337-01A-01D-1366-10	25644531	62275589	749931	34	19424											
COL6A1	1291	hgsc.bcm.edu;ucsc.edu	37	21	47420243	47420243	+	Splice_Site	SNP	A	A	C			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr21:47420243A>C	ENST00000361866.3	+	28	1890		c.e28-1			NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CTCCCTCCCCAGGAATGCGAG	0.617																																																0													84	78	80					21																	47420243		2203	4300	6503	SO:0001630	splice_region_variant	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1777-1A>C	21.37:g.47420243A>C			O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Splice_Site	SNP	ENST00000361866.3	37	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.681778	0.68042	.	.	ENSG00000142156	ENST00000361866	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4651	0.67477	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A1	46244671	1.000000	0.71417	0.885000	0.34714	0.830000	0.47004	6.047000	0.71038	1.897000	0.54924	0.467000	0.42956	.		0.617	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	Intron	C	47420243	A	C	47420243	5	2	332	1	0	0	0	0	0	0	1	0	3701	202	7	5	1885	5	COL6A1	21	47420243	Splice_Site	SNP	A	TCGA-BP-4337-01A-01D-1366-10		47420243	709652	35	19425											
KLHL22	84861	hgsc.bcm.edu	37	22	20843449	20843449	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr22:20843449G>T	ENST00000328879.4	-	2	206	c.50C>A	c.(49-51)cCc>cAc	p.P17H	KLHL22_ENST00000440659.2_5'UTR|KLHL22_ENST00000470335.1_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	17					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGGGTGTGAGGGCTGTGCAGG	0.597																																																0													147	118	128					22																	20843449		2203	4300	6503	SO:0001583	missense	84861				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.50C>A	22.37:g.20843449G>T	ENSP00000331682:p.Pro17His		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.154063	0.78114	.	.	ENSG00000099910	ENST00000328879;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430;ENST00000423364	T;T;T;T;D	0.85171	-0.88;-0.57;-0.5;-0.53;-1.95	4.88	4.88	0.63580	.	0.332697	0.29178	N	0.012906	T	0.80204	0.4580	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	P	0.53912	0.737	T	0.82228	-0.0561	10	0.38643	T	0.18	.	15.5226	0.75875	0.0:0.0:1.0:0.0	.	17	Q53GT1	KLH22_HUMAN	H	17;49;17;51;17;49	ENSP00000331682:P17H;ENSP00000403999:P49H;ENSP00000398616:P17H;ENSP00000397882:P51H;ENSP00000409092:P17H	ENSP00000331682:P17H	P	-	2	0	KLHL22	19173449	1.000000	0.71417	0.965000	0.40720	0.875000	0.50365	4.152000	0.58111	2.255000	0.74692	0.550000	0.68814	CCC		0.597	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		T	20843449	G	T	20843449	3	4	332	1	0	0	0	0	1	0	0	0	8379	1232	43	4	1878	4	KLHL22	22	20843449	Missense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10		20843449	30461117	36	19426											
KCTD17	79734	hgsc.bcm.edu	37	22	37455447	37455447	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr22:37455447G>T	ENST00000403888.3	+	5	603	c.602G>T	c.(601-603)gGg>gTg	p.G201V	KCTD17_ENST00000402077.3_Missense_Mutation_p.G201V	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	201					protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						ACCCCAAACGGGCTGAGCTCA	0.627																																																0													78	77	78					22																	37455447		2203	4300	6503	SO:0001583	missense	79734			BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 17"			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.602G>T	22.37:g.37455447G>T	ENSP00000385096:p.Gly201Val		B0QYA9|B0QYB0|O95517	Missense_Mutation	SNP	ENST00000403888.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.556105|3.556105	0.65425|0.65425	.|.	.|.	ENSG00000100379|ENSG00000100379	ENST00000456470|ENST00000402077;ENST00000403888	T|T;T	0.78246|0.77877	-1.16|-1.13;-1.13	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	0.630262|0.630262	0.13732|0.13732	N|N	0.366618|0.366618	T|T	0.81559|0.81559	0.4848|0.4848	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;P;D;P	.|0.89917	.|0.999;0.851;1.0;0.918	.|D;B;D;P	.|0.80764	.|0.984;0.212;0.994;0.613	T|T	0.82748|0.82748	-0.0304|-0.0304	8|10	0.49607|0.87932	T|D	0.09|0	-16.0683|-16.0683	14.6827|14.6827	0.69028|0.69028	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|201;192;201;155	.|Q8N5Z5-2;E9PCZ8;Q8N5Z5;B0QYB1	.|.;.;KCD17_HUMAN;.	C|V	156|201	ENSP00000409638:G156C|ENSP00000384391:G201V;ENSP00000385096:G201V	ENSP00000409638:G156C|ENSP00000384391:G201V	G|G	+|+	1|2	0|0	KCTD17|KCTD17	35785393|35785393	1.000000|1.000000	0.71417|0.71417	0.822000|0.822000	0.32727|0.32727	0.336000|0.336000	0.28762|0.28762	6.367000|6.367000	0.73099|0.73099	1.887000|1.887000	0.54652|0.54652	0.462000|0.462000	0.41574|0.41574	GGC|GGG		0.627	KCTD17-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318781.1	NM_024681		T	37455447	G	T	37455447	3	4	332	1	0	0	0	0	1	0	0	0	8106	1232	43	4	620	4	KCTD17	22	37455447	Missense_Mutation	SNP	G	TCGA-BP-4337-01A-01D-1366-10	16611998	37455447	13849119	37	19427											
FAM46D	169966	hgsc.bcm.edu;ucsc.edu	37	X	79698230	79698230	+	Silent	SNP	T	T	C			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chrX:79698230T>C	ENST00000308293.5	+	3	431	c.192T>C	c.(190-192)aaT>aaC	p.N64N	FAM46D_ENST00000538312.1_Silent_p.N64N	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	64										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CCAGATTGAATGGTTCCGTAG	0.393																																																0													132	115	121					X																	79698230		2203	4300	6503	SO:0001819	synonymous_variant	169966			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"cancer/testis antigen 112"					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.192T>C	X.37:g.79698230T>C			B2R9Q6|Q7Z3F6|Q8NHU1	Silent	SNP	ENST00000308293.5	37	CCDS14446.1																																																																																				0.393	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		C	79698230	T	C	79698230	2	2	332	1	0	0	0	0	0	0	0	1	5570	1461	51	3		3	FAM46D	23	79698230	Silent	SNP	T	TCGA-BP-4337-01A-01D-1366-10		79698230	75572330	38	19428											
AFF2	2334	hgsc.bcm.edu;ucsc.edu	37	X	148037494	148037494	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chrX:148037494C>A	ENST00000370460.2	+	11	2398	c.1919C>A	c.(1918-1920)aCt>aAt	p.T640N	AFF2_ENST00000370457.5_Missense_Mutation_p.T607N|AFF2_ENST00000342251.3_Missense_Mutation_p.T607N|AFF2_ENST00000286437.5_Missense_Mutation_p.T281N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	640					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACACCAGCACTGACGAGTTT	0.448																																																0													103	109	107					X																	148037494		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1919C>A	X.37:g.148037494C>A	ENSP00000359489:p.Thr640Asn		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	1.146	-0.647997	0.03506	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.5	-0.0792	0.13711	.	1.339000	0.04492	N	0.379795	T	0.49012	0.1532	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B	0.21688	0.059;0.047;0.047;0.047;0.047;0.059	B;B;B;B;B;B	0.24974	0.057;0.021;0.021;0.021;0.034;0.057	T	0.24584	-1.0156	10	0.19147	T	0.46	.	7.5448	0.27759	0.0:0.3607:0.1142:0.525	.	281;605;607;601;630;640	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	N	640;607;607;281	ENSP00000359489:T640N;ENSP00000359486:T607N;ENSP00000345459:T607N;ENSP00000286437:T281N	ENSP00000286437:T281N	T	+	2	0	AFF2	147845194	0.164000	0.22935	0.154000	0.22540	0.435000	0.31806	0.385000	0.20685	-0.295000	0.08960	-0.372000	0.07161	ACT		0.448	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		A	148037494	C	A	148037494	3	1	332	1	0	0	0	0	1	0	0	0	357	565	20	4	2016	4	AFF2	23	148037494	Missense_Mutation	SNP	C	TCGA-BP-4337-01A-01D-1366-10	68339264	148037494	7233066	39	19429											
PRAMEF1	65121	hgsc.bcm.edu	37	1	12854414	12854414	+	Missense_Mutation	SNP	G	G	A	rs1063769	byFrequency	TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr1:12854414G>A	ENST00000332296.7	+	3	741	c.638G>A	c.(637-639)cGc>cAc	p.R213H	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	213			R -> H (in dbSNP:rs1063769).		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)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		CTGGAAATTCGCAACATGTCC	0.403																																																0													332	303	313					1																	12854414		2203	4300	6503	SO:0001583	missense	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.638G>A	1.37:g.12854414G>A	ENSP00000332134:p.Arg213His		Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	2.614	-0.290146	0.05568	.	.	ENSG00000116721	ENST00000332296	T	0.01025	5.43	1.61	-3.22	0.05125	.	0.000000	0.49916	U	0.000135	T	0.00666	0.0022	L	0.34521	1.04	0.80722	P	0.0	B	0.09022	0.002	B	0.06405	0.002	T	0.48514	-0.9029	9	0.16420	T	0.52	.	3.4737	0.07577	0.1852:0.0:0.2519:0.5629	rs1063769	213	O95521	PRAM1_HUMAN	H	213	ENSP00000332134:R213H	ENSP00000332134:R213H	R	+	2	0	PRAMEF1	12777001	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.869000	0.01643	-1.558000	0.01690	-0.446000	0.05623	CGC		0.403	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		A	12854414	G	A	12854414	3	1	333	1	0	0	0	0	1	0	0	0	12430	1087	38	1	644	1	PRAMEF1	1	12854414	Missense_Mutation	SNP	G	TCGA-BP-4338-01A-01D-1806-10		12854414	236396207	1	19430											
PRAMEF7	441871	hgsc.bcm.edu	37	1	12977626	12977626	+	Silent	SNP	A	A	G	rs61778319	byFrequency	TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr1:12977626A>G	ENST00000361079.2	+	2	197	c.114A>G	c.(112-114)acA>acG	p.T38T				Q5VXH5	PRAM7_HUMAN	PRAME family member 7	38					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)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	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)		TCTTCCCCACACTGTTCATGG	0.617																																																0																																										SO:0001819	synonymous_variant	441871				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.114A>G	1.37:g.12977626A>G			B9EIP0	Silent	SNP	ENST00000361079.2	37	CCDS30593.1																																																																																				0.617	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		G	12977626	A	G	12977626	2	3	333	1	0	0	0	0	0	0	0	1	12444	146	6	3		3	PRAMEF7	1	12977626	Silent	SNP	A	TCGA-BP-4338-01A-01D-1806-10	123212	12977626	236272995	2	19431											
PRAMEF7	441871	hgsc.bcm.edu	37	1	12977766	12977766	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr1:12977766T>G	ENST00000361079.2	+	2	337	c.254T>G	c.(253-255)gTt>gGt	p.V85G				Q5VXH5	PRAM7_HUMAN	PRAME family member 7	85					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)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	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)		CTGGAAGGGGTTGATGTGCTG	0.572																																																0													0	1	1					1																	12977766		0	3	3	SO:0001583	missense	441871				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.254T>G	1.37:g.12977766T>G	ENSP00000354371:p.Val85Gly		B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	CCDS30593.1	.	.	.	.	.	.	.	.	.	.	.	8.773	0.926369	0.18056	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.05139	3.49;3.49	1.51	1.51	0.23008	.	0.482456	0.19404	N	0.115087	T	0.08492	0.0211	L	0.52905	1.665	0.09310	N	0.999998	P	0.40266	0.71	P	0.44447	0.45	T	0.14008	-1.0488	10	0.87932	D	0	.	5.1468	0.14989	0.0:0.0:0.0:1.0	.	85	Q5VXH5	PRAM7_HUMAN	G	85	ENSP00000354371:V85G;ENSP00000328915:V85G	ENSP00000328915:V85G	V	+	2	0	PRAMEF7	12900353	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.729000	0.26028	0.940000	0.37473	0.163000	0.16589	GTT		0.572	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		G	12977766	T	G	12977766	3	3	333	1	0	0	0	0	1	0	0	0	12444	1725	60	5	256	5	PRAMEF7	1	12977766	Missense_Mutation	SNP	T	TCGA-BP-4338-01A-01D-1806-10	140	12977766	236272855	3	19432											
DMRTB1	63948	hgsc.bcm.edu	37	1	53927263	53927263	+	Missense_Mutation	SNP	C	C	G	rs146520630		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr1:53927263C>G	ENST00000371445.3	+	2	750	c.695C>G	c.(694-696)cCc>cGc	p.P232R	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	232	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P232L(1)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCTGGCGTCCCCCTGCAGCAG	0.672																																																1	Substitution - Missense(1)	skin(1)											59	54	56					1																	53927263		2203	4300	6503	SO:0001583	missense	63948			AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.695C>G	1.37:g.53927263C>G	ENSP00000360500:p.Pro232Arg		Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946821	0.53186	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	T	0.56444	0.46	5.01	5.01	0.66863	.	0.402201	0.21295	N	0.076913	T	0.68970	0.3059	M	0.66939	2.045	0.09310	N	1	D	0.69078	0.997	D	0.68353	0.957	T	0.62077	-0.6930	10	0.87932	D	0	-12.3233	14.0092	0.64486	0.0:1.0:0.0:0.0	.	232	Q96MA1	DMRTB_HUMAN	R	232;79	ENSP00000360500:P232R	ENSP00000360500:P232R	P	+	2	0	DMRTB1	53699851	0.442000	0.25633	0.018000	0.16275	0.617000	0.37484	3.778000	0.55371	2.779000	0.95612	0.655000	0.94253	CCC		0.672	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			G	53927263	C	G	53927263	3	3	333	1	0	0	0	0	1	0	0	0	4592	623	22	4	701	4	DMRTB1	1	53927263	Missense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10	40949497	53927263	195323358	4	19433											
NOTCH2	4853	hgsc.bcm.edu	37	1	120548025	120548025	+	Silent	SNP	G	G	A	rs140551270		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr1:120548025G>A	ENST00000256646.2	-	3	561	c.342C>T	c.(340-342)ccC>ccT	p.P114P	NOTCH2_ENST00000602566.1_Silent_p.P75P	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	114	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTCAGGCAGGGTCGAGACA	0.547			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													183	139	154					1																	120548025		2203	4300	6503	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.342C>T	1.37:g.120548025G>A			Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.547	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		A	120548025	G	A	120548025	2	1	333	1	0	0	0	0	0	0	0	1	10550	987	35	2		2	NOTCH2	1	120548025	Silent	SNP	G	TCGA-BP-4338-01A-01D-1806-10	66620762	120548025	128702596	5	19434											
TLR5	7100	hgsc.bcm.edu;ucsc.edu	37	1	223284112	223284112	+	Silent	SNP	G	G	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr1:223284112G>T	ENST00000540964.1	-	4	2723	c.2262C>A	c.(2260-2262)atC>atA	p.I754I	TLR5_ENST00000342210.6_Silent_p.I754I			O60602	TLR5_HUMAN	toll-like receptor 5	754	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CAAGACAAACGATCTTTCTAC	0.468																																																0													93	84	87					1																	223284112		2203	4300	6503	SO:0001819	synonymous_variant	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.2262C>A	1.37:g.223284112G>T			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	CCDS31033.1																																																																																				0.468	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		T	223284112	G	T	223284112	2	4	333	1	0	0	0	0	0	0	0	1	15959	1048	37	4		4	TLR5	1	223284112	Silent	SNP	G	TCGA-BP-4338-01A-01D-1806-10	102736087	223284112	25966509	6	19435											
PRSS38	339501	hgsc.bcm.edu;ucsc.edu	37	1	228033865	228033866	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr1:228033865_228033866insT	ENST00000366757.3	+	5	961_962	c.937_938insT	c.(937-939)ctcfs	p.L313fs		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	313						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGGGCCCACTCTCAGCGTCCTA	0.559																																																0																																										SO:0001589	frameshift_variant	339501				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.938dupT	1.37:g.228033866_228033866dupT	ENSP00000355719:p.Leu313fs		Q7RTY6	Frame_Shift_Ins	INS	ENST00000366757.3	37	CCDS1563.1																																																																																				0.559	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		T	228033866	-	T	228033865	7	5	333	1	0	1	1	0	0	0	0	0	12632	913	32	0	955	0	PRSS38	1	228033865	Frame_Shift_Ins	INS	-	TCGA-BP-4338-01A-01D-1806-10	4749753	228033865	21216756	7	19436											
NLRP3	114548	hgsc.bcm.edu	37	1	247587937	247587937	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr1:247587937C>G	ENST00000336119.3	+	3	1938	c.1192C>G	c.(1192-1194)Ctg>Gtg	p.L398V	NLRP3_ENST00000391827.2_Missense_Mutation_p.L398V|NLRP3_ENST00000366496.2_Missense_Mutation_p.L398V|NLRP3_ENST00000366497.2_Missense_Mutation_p.L398V|NLRP3_ENST00000348069.2_Missense_Mutation_p.L398V|NLRP3_ENST00000391828.3_Missense_Mutation_p.L398V|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	398	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCCTTCAGTCTGATTCAGGA	0.537																																																0													89	71	77					1																	247587937		2203	4300	6503	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1192C>G	1.37:g.247587937C>G	ENSP00000337383:p.Leu398Val		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	5.296	0.240044	0.10023	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.17	1.94	0.25998	NACHT nucleoside triphosphatase (1);	0.000000	0.41194	D	0.000930	T	0.73931	0.3650	L	0.41415	1.275	0.29531	N	0.852783	B;P;P;B;B	0.46578	0.323;0.88;0.544;0.357;0.125	B;P;B;B;B	0.46275	0.099;0.51;0.236;0.236;0.186	T	0.65825	-0.6074	10	0.19147	T	0.46	.	5.0246	0.14378	0.0:0.6347:0.0:0.3653	.	398;398;398;398;398	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	V	398	ENSP00000375704:L398V;ENSP00000355453:L398V;ENSP00000337383:L398V;ENSP00000294752:L398V;ENSP00000355452:L398V;ENSP00000375703:L398V	ENSP00000337383:L398V	L	+	1	2	NLRP3	245654560	0.265000	0.24102	0.682000	0.30024	0.186000	0.23388	1.229000	0.32600	0.489000	0.27749	0.655000	0.94253	CTG		0.537	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		G	247587937	C	G	247587937	3	3	333	1	0	0	0	0	1	0	0	0	10480	912	32	4	1202	4	NLRP3	1	247587937	Missense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10	19554072	247587937	1662684	8	19437											
SLC8A1	6546	hgsc.bcm.edu	37	2	40392062	40392062	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr2:40392062delT	ENST00000403092.1	-	8	2134	c.2101delA	c.(2101-2103)atgfs	p.M701fs	SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.M701fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.M665fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.M665fs|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.M693fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.M665fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406785.2_Frame_Shift_Del_p.M665fs|SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.M696fs|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.M696fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.M665fs|SLC8A1-AS1_ENST00000599740.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	701					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGGCGCCCCATTTCTGCAATG	0.507																																																0													189	180	183					2																	40392062		2203	4300	6503	SO:0001589	frameshift_variant	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2101delA	2.37:g.40392062delT	ENSP00000384763:p.Met701fs		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Del	DEL	ENST00000403092.1	37	CCDS1806.1																																																																																				0.507	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		-	40392062	T	-	40392062	7	5	333	1	0	1	0	1	0	0	0	0	14712	1493	52	0	836	0	SLC8A1	2	40392062	Frame_Shift_Del	DEL	T	TCGA-BP-4338-01A-01D-1806-10		40392062	202807311	9	19438											
APLF	200558	hgsc.bcm.edu;ucsc.edu	37	2	68772385	68772385	+	Silent	SNP	C	C	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr2:68772385C>T	ENST00000303795.4	+	8	1398	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	409	Flexible linker.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GTGTACAAATCGTGGGCCAAG	0.418																																																0													161	149	153					2																	68772385		2203	4300	6503	SO:0001819	synonymous_variant	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1227C>T	2.37:g.68772385C>T			A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	CCDS1888.1																																																																																				0.418	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		T	68772385	C	T	68772385	2	4	333	1	0	0	0	0	0	0	0	1	776	874	31	1		1	APLF	2	68772385	Silent	SNP	C	TCGA-BP-4338-01A-01D-1806-10	28380323	68772385	174426988	10	19439											
RGPD5	84220	hgsc.bcm.edu	37	2	110585652	110585652	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr2:110585652A>G	ENST00000016946.3	+	17	2551	c.2393A>G	c.(2392-2394)gAa>gGa	p.E798G	RGPD5_ENST00000272454.6_Missense_Mutation_p.E798G|RGPD5_ENST00000393283.1_Missense_Mutation_p.E798G	NM_005054.2	NP_005045.2	Q99666	RGPD5_HUMAN	RANBP2-like and GRIP domain containing 5	798					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)				central_nervous_system(1)	1						TATTCTCCCGAAACACCACCT	0.328																																																0													1	1	1					2																	110585652		1	2	3	SO:0001583	missense	84220			U64675	CCDS2082.1, CCDS2083.1	2q13	2013-01-10			ENSG00000015568	ENSG00000015568		"Tetratricopeptide (TTC) repeat domain containing"	32418	protein-coding gene	gene with protein product		612708				15710750, 15815621	Standard	NM_032260		Approved	RGP5, BS-63, DKFZp686I1842		Q99666	OTTHUMG00000130985	ENST00000016946.3:c.2393A>G	2.37:g.110585652A>G	ENSP00000016946:p.Glu798Gly		Q53QN2|Q53T03|Q59GM7|Q9H0B2	Missense_Mutation	SNP	ENST00000016946.3	37	CCDS2082.1	.	.	.	.	.	.	.	.	.	.	a	3.399	-0.122707	0.06795	.	.	ENSG00000015568	ENST00000393283;ENST00000272454;ENST00000016946	T;T;T	0.22743	1.94;1.94;1.94	1.79	0.592	0.17471	.	.	.	.	.	T	0.09992	0.0245	N	0.14661	0.345	0.54753	P	1.0999999999983245E-5	B;B	0.32526	0.017;0.374	B;B	0.29267	0.009;0.1	T	0.22312	-1.0220	8	0.40728	T	0.16	-12.6019	5.0209	0.14361	0.8224:0.0:0.1776:0.0	.	798;798	Q99666;Q99666-2	RGPD5_HUMAN;.	G	798	ENSP00000376962:E798G;ENSP00000272454:E798G;ENSP00000016946:E798G	ENSP00000016946:E798G	E	+	2	0	RGPD5	109942941	1.000000	0.71417	0.996000	0.52242	0.053000	0.15095	4.111000	0.57838	0.162000	0.19483	0.156000	0.16432	GAA		0.328	RGPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253599.3	NM_005054		G	110585652	A	G	110585652	3	3	333	1	0	0	0	0	1	0	0	0	13295	246	9	3	2459	3	RGPD5	2	110585652	Missense_Mutation	SNP	A	TCGA-BP-4338-01A-01D-1806-10	41813267	110585652	132613721	11	19440											
SAP130	79595	hgsc.bcm.edu	37	2	128744480	128744480	+	Missense_Mutation	SNP	T	T	C	rs72841716	byFrequency	TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr2:128744480T>C	ENST00000259235.3	-	14	2044	c.1915A>G	c.(1915-1917)Agt>Ggt	p.S639G	SAP130_ENST00000357702.5_Missense_Mutation_p.S639G|SAP130_ENST00000259234.6_Missense_Mutation_p.S612G	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	639					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGAGCAGCACTGAATGGATTG	0.562													T|||	3	0.000599042	0.0008	0.0	5008	,	,		20245	0.0		0.002	False		,,,				2504	0.0															0								T	GLY/SER,GLY/SER	8,4398	14.3+/-33.2	0,8,2195	107	93	98		1915,1915	6.2	1	2	dbSNP_130	98	114,8486	61.3+/-123.2	0,114,4186	yes	missense,missense	SAP130	NM_001145928.1,NM_024545.3	56,56	0,122,6381	CC,CT,TT		1.3256,0.1816,0.938	possibly-damaging,possibly-damaging	639/1084,639/1049	128744480	122,12884	2203	4300	6503	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1915A>G	2.37:g.128744480T>C	ENSP00000259235:p.Ser639Gly		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	18.93	3.728472	0.69074	0.001816	0.013256	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	6.17	0.99709	.	0.122517	0.85682	D	0.000000	T	0.50803	0.1637	L	0.27053	0.805	0.53005	D	0.999966	P;B;B;D;B	0.56746	0.89;0.001;0.001;0.977;0.001	B;B;B;P;B	0.54026	0.337;0.002;0.003;0.74;0.005	T	0.56938	-0.7896	9	0.45353	T	0.12	-15.6489	16.8222	0.85835	0.0:0.0:0.0:1.0	.	639;612;639;169;276	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	G	639;639;612	.	ENSP00000259234:S612G	S	-	1	0	SAP130	128460950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.452000	0.60054	2.371000	0.80710	0.533000	0.62120	AGT		0.562	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		C	128744480	T	C	128744480	3	2	333	1	0	0	0	0	1	0	0	0	13837	1580	55	3	1368	3	SAP130	2	128744480	Missense_Mutation	SNP	T	TCGA-BP-4338-01A-01D-1806-10	18158828	128744480	114454893	12	19441											
PLEKHB2	55041	hgsc.bcm.edu;ucsc.edu	37	2	131883458	131883458	+	Missense_Mutation	SNP	G	G	A	rs377415954		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr2:131883458G>A	ENST00000403716.1	+	3	730	c.170G>A	c.(169-171)cGc>cAc	p.R57H	PLEKHB2_ENST00000409279.1_Missense_Mutation_p.R57H|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.R9H|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.R57H|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.R57H|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.R57H|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.R57H|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.R57H|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.R57H|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.R57H	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ATCAACATCCGCACGGGGCAG	0.527																																																0													112	100	104					2																	131883458		2203	4300	6503	SO:0001583	missense	55041				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"Pleckstrin homology (PH) domain containing"	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.170G>A	2.37:g.131883458G>A	ENSP00000385892:p.Arg57His		B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	ENST00000403716.1	37	CCDS46413.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042490	0.93685	.	.	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000439822;ENST00000438882;ENST00000538982;ENST00000404460;ENST00000409612;ENST00000409279;ENST00000303908	T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;1.47;-0.97;-0.97;-0.97;-0.97	4.93	4.93	0.64822	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.067173	0.64402	U	0.000018	D	0.85978	0.5823	M	0.77820	2.39	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	0.91635	0.998;0.998;0.998;0.998;0.999;0.998;0.999	D	0.87157	0.2212	10	0.56958	D	0.05	-0.1004	15.9847	0.80142	0.0:0.0:1.0:0.0	.	57;57;57;57;57;57;57	B4DZ66;B4DF08;Q53FF1;Q96CS7-3;B7WPA5;Q96CS7;B8ZZN1	.;.;.;.;.;PKHB2_HUMAN;.	H	57;57;57;57;57;9;57;57;57;57	ENSP00000386410:R57H;ENSP00000385892:R57H;ENSP00000234115:R57H;ENSP00000389629:R57H;ENSP00000401193:R57H;ENSP00000444389:R9H;ENSP00000385609:R57H;ENSP00000386662:R57H;ENSP00000386666:R57H;ENSP00000306852:R57H	ENSP00000234115:R57H	R	+	2	0	PLEKHB2	131599928	1.000000	0.71417	0.971000	0.41717	0.899000	0.52679	5.718000	0.68455	2.443000	0.82685	0.462000	0.41574	CGC		0.527	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		A	131883458	G	A	131883458	3	1	333	1	0	0	0	0	1	0	0	0	12067	1087	38	1	176	1	PLEKHB2	2	131883458	Missense_Mutation	SNP	G	TCGA-BP-4338-01A-01D-1806-10	3138978	131883458	111315915	13	19442											
TTN	7273	hgsc.bcm.edu	37	2	179407913	179407913	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr2:179407913T>G	ENST00000591111.1	-	297	92088	c.91864A>C	c.(91864-91866)Act>Cct	p.T30622P	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T29695P|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T23390P|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T32263P|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T23198P|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T23323P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30622	Fibronectin type-III 123. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGTAACAGTGTGCTCTAGG	0.458																																																0													231	221	225					2																	179407913		1931	4148	6079	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91864A>C	2.37:g.179407913T>G	ENSP00000465570:p.Thr30622Pro		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	14.16	2.451614	0.43531	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.61	5.61	0.85477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75072	0.3800	M	0.72479	2.2	0.58432	D	0.999994	D;D;D;D	0.67145	0.992;0.992;0.992;0.996	D;D;D;D	0.74023	0.967;0.967;0.967;0.982	T	0.78155	-0.2314	9	0.87932	D	0	.	16.1025	0.81194	0.0:0.0:0.0:1.0	.	23198;23323;23390;30622	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	29695;23198;23390;23323;23195	ENSP00000343764:T29695P;ENSP00000434586:T23198P;ENSP00000340554:T23390P;ENSP00000352154:T23323P	ENSP00000340554:T23390P	T	-	1	0	TTN	179116159	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	7.997000	0.88414	2.254000	0.74563	0.533000	0.62120	ACT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179407913	T	G	179407913	3	3	333	1	0	0	0	0	1	0	0	0	16740	1696	59	5	11256	5	TTN	2	179407913	Missense_Mutation	SNP	T	TCGA-BP-4338-01A-01D-1806-10	47524455	179407913	63791460	14	19443											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179614382	179614382	+	Intron	SNP	C	C	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr2:179614382C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.E4249K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			GTGACAGGCTCCACTGTTAGA	0.338																																																0													55	60	59					2																	179614382		2199	4297	6496	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3468G>A	2.37:g.179614382C>T			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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	12.77	2.037876	0.35989	.	.	ENSG00000155657	ENST00000360870	T	0.39997	1.05	6.06	6.06	0.98353	.	.	.	.	.	T	0.28300	0.0699	N	0.24115	0.695	0.80722	D	1	P	0.42296	0.775	B	0.39660	0.306	T	0.08330	-1.0727	9	0.05525	T	0.97	.	16.3127	0.82898	0.0:0.8328:0.1672:0.0	.	4249	Q8WZ42-6	.	K	4249	ENSP00000354117:E4249K	ENSP00000354117:E4249K	E	-	1	0	TTN	179322627	0.774000	0.28592	0.957000	0.39632	0.436000	0.31835	1.498000	0.35660	2.882000	0.98803	0.655000	0.94253	GAG		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179614382	C	T	179614382	1	4	333	0	1	0	0	0	0	0	0	0	16740	864	30	2		2	TTN	2	179614382	Intron	SNP	C	TCGA-BP-4338-01A-01D-1806-10	206469	179614382	63584991	15	19444											
PLCD4	84812	hgsc.bcm.edu;ucsc.edu	37	2	219501273	219501273	+	Silent	SNP	G	G	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr2:219501273G>A	ENST00000450993.2	+	16	2601	c.2262G>A	c.(2260-2262)caG>caA	p.Q754Q	PLCD4_ENST00000417849.1_Silent_p.Q754Q|PLCD4_ENST00000432688.1_Silent_p.Q786Q|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	754					acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCTGCATCCAGGAAGGCCTGG	0.567																																																0													54	53	53					2																	219501273		1935	4141	6076	SO:0001819	synonymous_variant	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.2262G>A	2.37:g.219501273G>A			Q53FS8	Silent	SNP	ENST00000450993.2	37	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.578550	0.00879	.	.	ENSG00000115556	ENST00000457773	.	.	.	5.17	2.4	0.29515	.	.	.	.	.	T	0.45357	0.1338	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.27571	-1.0070	4	.	.	.	.	2.6561	0.05013	0.2197:0.1242:0.5284:0.1277	.	.	.	.	R	103	.	.	G	+	1	0	PLCD4	219209517	0.874000	0.30092	0.333000	0.25482	0.045000	0.14185	1.052000	0.30429	0.341000	0.23771	-0.140000	0.14226	GGA		0.567	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			A	219501273	G	A	219501273	2	1	333	1	0	0	0	0	0	0	0	1	12035	991	35	2		2	PLCD4	2	219501273	Silent	SNP	G	TCGA-BP-4338-01A-01D-1806-10	39886891	219501273	23698100	16	19445											
SP140	11262	hgsc.bcm.edu;ucsc.edu	37	2	231102997	231102997	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr2:231102997G>A	ENST00000392045.3	+	3	421	c.307G>A	c.(307-309)Gag>Aag	p.E103K	SP140_ENST00000343805.6_Missense_Mutation_p.E103K|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000373645.3_Missense_Mutation_p.E103K|SP140_ENST00000417495.3_Missense_Mutation_p.E103K|SP140_ENST00000350136.5_Missense_Mutation_p.E83K|SP140_ENST00000420434.3_Missense_Mutation_p.E103K|SP140_ENST00000486687.2_Missense_Mutation_p.E103K	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	103	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAGTGAACTGGAGAAGACATT	0.393																																																0													127	116	120					2																	231102997		2203	4300	6503	SO:0001583	missense	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.307G>A	2.37:g.231102997G>A	ENSP00000375899:p.Glu103Lys		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604966	0.66445	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434;ENST00000373645	D;D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65;-3.65	3.49	2.58	0.30949	Sp100 (2);	.	.	.	.	D	0.96414	0.8830	M	0.78456	2.415	0.26302	N	0.977955	D;D;D;D;D;D	0.69078	0.997;0.99;0.987;0.995;0.995;0.99	D;D;P;D;D;D	0.77557	0.989;0.917;0.792;0.99;0.97;0.917	D	0.89629	0.3854	9	0.87932	D	0	-27.1049	8.5506	0.33449	0.0:0.2521:0.7479:0.0	.	103;103;103;103;103;103	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75;Q6NSG4	.;.;.;LY10_HUMAN;.;.	K	103;103;103;83;103;103;103;103;103	ENSP00000440107:E103K;ENSP00000345846:E83K;ENSP00000375899:E103K;ENSP00000342096:E103K;ENSP00000398210:E103K;ENSP00000362749:E103K	ENSP00000342096:E103K	E	+	1	0	SP140	230811241	1.000000	0.71417	0.992000	0.48379	0.745000	0.42441	1.540000	0.36115	0.985000	0.38656	0.655000	0.94253	GAG		0.393	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		A	231102997	G	A	231102997	3	1	333	1	0	0	0	0	1	0	0	0	14968	1175	41	2	317	2	SP140	2	231102997	Missense_Mutation	SNP	G	TCGA-BP-4338-01A-01D-1806-10	11601724	231102997	12096376	17	19446											
MST1	327	hgsc.bcm.edu	37	3	49721998	49721998	+	IGR	SNP	A	A	G			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr3:49721998A>G	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.W621R|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.W607R(2)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTCTCACCCCAGCCTGCAATC	0.597																																																2	Substitution - Missense(2)	prostate(1)|lung(1)											89	92	91					3																	49721998		2203	4300	6503	SO:0001628	intergenic_variant	4485			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721998A>G			Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.5|20.5	4.009355|4.009355	0.75046|0.75046	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000448220|ENST00000449682	.|D	.|0.97232	.|-4.3	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.39759	.|N	.|0.001263	D|D	0.99089|0.99089	0.9687|0.9687	H|H	0.98388|0.98388	4.22|4.22	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99026|0.99026	1.0819|1.0819	5|10	.|0.87932	.|D	.|0	.|.	13.7446|13.7446	0.62868|0.62868	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|621	.|G3XAK1	.|.	P|R	90|621	.|ENSP00000414287:W621R	.|ENSP00000414287:W621R	L|W	-|-	2|1	0|0	MST1|MST1	49697002|49697002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.649000|8.649000	0.91067|0.91067	2.063000|2.063000	0.61619|0.61619	0.459000|0.459000	0.35465|0.35465	CTG|TGG		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			G	49721998	A	G	49721998	1	3	333	0	1	0	0	0	0	0	0	0	9892	188	7	3		3	MST1	3	49721998	IGR	SNP	A	TCGA-BP-4338-01A-01D-1806-10		49721998	148300432	18	19447											
B4GALT4	8702	hgsc.bcm.edu	37	3	118931440	118931440	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr3:118931440G>A	ENST00000483209.1	-	8	1632	c.991C>T	c.(991-993)Cct>Tct	p.P331S	B4GALT4_ENST00000359213.3_Missense_Mutation_p.P331S|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000467604.1_3'UTR|B4GALT4_ENST00000393765.2_Missense_Mutation_p.P331S			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	331					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	ATATATAAAGGATTGTGTTCC	0.373																																																0													114	105	108					3																	118931440		2203	4300	6503	SO:0001583	missense	8702			AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"Beta 4-glycosyltransferases"	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.991C>T	3.37:g.118931440G>A	ENSP00000420161:p.Pro331Ser		Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281178	0.80692	.	.	ENSG00000121578	ENST00000483209;ENST00000359213;ENST00000393765	T;T;T	0.35236	1.32;1.32;1.32	5.38	5.38	0.77491	.	0.057338	0.64402	D	0.000001	T	0.50120	0.1597	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	P	0.49561	0.615	T	0.52675	-0.8544	10	0.49607	T	0.09	-13.458	17.8886	0.88864	0.0:0.0:1.0:0.0	.	331	O60513	B4GT4_HUMAN	S	331	ENSP00000420161:P331S;ENSP00000352144:P331S;ENSP00000377360:P331S	ENSP00000352144:P331S	P	-	1	0	B4GALT4	120414130	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	6.427000	0.73378	2.793000	0.96121	0.655000	0.94253	CCT		0.373	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		A	118931440	G	A	118931440	3	1	333	1	0	0	0	0	1	0	0	0	1273	1174	41	2	47	2	B4GALT4	3	118931440	Missense_Mutation	SNP	G	TCGA-BP-4338-01A-01D-1806-10	69209442	118931440	79090990	19	19448											
TFDP2	7029	hgsc.bcm.edu;ucsc.edu	37	3	141678681	141678681	+	Splice_Site	SNP	A	A	G			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr3:141678681A>G	ENST00000489671.1	-	11	1316	c.886T>C	c.(886-888)Ttt>Ctt	p.F296L	TFDP2_ENST00000310282.6_Splice_Site_p.F236L|TFDP2_ENST00000317104.7_Splice_Site_p.F220L|TFDP2_ENST00000499676.2_Splice_Site_p.F236L|TFDP2_ENST00000486111.1_Splice_Site_p.F236L|TFDP2_ENST00000467072.1_Splice_Site_p.F236L|TFDP2_ENST00000479040.1_Splice_Site_p.F235L|TFDP2_ENST00000397991.4_Splice_Site_p.F268L|TFDP2_ENST00000495310.1_Splice_Site_p.F199L|TFDP2_ENST00000477292.1_Splice_Site_p.F160L			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	296	DCB2.				gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						AGATACTCAAACCTGCATCAG	0.408																																																0													87	82	83					3																	141678681		1921	4153	6074	SO:0001630	splice_region_variant	7029			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.885-1T>C	3.37:g.141678681A>G			B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	CCDS54650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.32|17.32	3.360093|3.360093	0.61403|0.61403	.|.	.|.	ENSG00000114126|ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667|ENST00000474279	T;T;T;T;T;T;T;T;T;T;T|.	0.44083|.	1.93;1.91;1.93;0.94;0.93;1.93;1.93;1.93;1.93;1.91;1.58|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Transcription factor DP, C-terminal (1);|.	0.064498|.	0.64402|.	D|.	0.000006|.	T|T	0.64294|0.64294	0.2585|0.2585	L|L	0.48986|0.48986	1.54|1.54	0.80722|0.80722	D|D	1|1	B;P;P|.	0.45428|.	0.004;0.78;0.858|.	B;B;B|.	0.39465|.	0.009;0.3;0.256|.	T|T	0.61628|0.61628	-0.7024|-0.7024	10|5	0.23891|.	T|.	0.37|.	-5.9357|-5.9357	15.7656|15.7656	0.78123|0.78123	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	199;296;236|.	B7Z8L5;Q14188;Q14188-5|.	.;TFDP2_HUMAN;.|.	L|A	236;296;236;160;199;236;220;236;235;268;236|9	ENSP00000439782:F236L;ENSP00000420616:F296L;ENSP00000420599:F236L;ENSP00000418971:F160L;ENSP00000419036:F199L;ENSP00000418590:F236L;ENSP00000315668:F220L;ENSP00000309622:F236L;ENSP00000417585:F235L;ENSP00000381078:F268L;ENSP00000417726:F236L|.	ENSP00000309622:F236L|.	F|V	-|-	1|2	0|0	TFDP2|TFDP2	143161371|143161371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	8.773000|8.773000	0.91762|0.91762	2.133000|2.133000	0.65898|0.65898	0.379000|0.379000	0.24179|0.24179	TTT|GTT		0.408	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286	Missense_Mutation	G	141678681	A	G	141678681	5	3	333	1	0	0	0	0	0	0	1	0	15803	57	2	3	466	3	TFDP2	3	141678681	Splice_Site	SNP	A	TCGA-BP-4338-01A-01D-1806-10	22747241	141678681	56343749	20	19449											
ATP11B	23200	hgsc.bcm.edu	37	3	182584081	182584081	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr3:182584081A>G	ENST00000323116.5	+	14	1729	c.1469A>G	c.(1468-1470)aAa>aGa	p.K490R		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	490					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTCTTCTTTAAAGCAGTCAGT	0.383																																																0													79	74	76					3																	182584081		2203	4300	6503	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1469A>G	3.37:g.182584081A>G	ENSP00000321195:p.Lys490Arg		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.083|7.083	0.570596|0.570596	0.13560|0.13560	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116	T|T	0.63096|0.58652	-0.02|0.32	5.56|5.56	4.39|4.39	0.52855|0.52855	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.104089|0.104089	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.53722|0.53722	0.1814|0.1814	N|N	0.13098|0.13098	0.295|0.295	0.80722|0.80722	D|D	1|1	.|D;B	.|0.69078	.|0.997;0.009	.|D;B	.|0.75020	.|0.985;0.03	T|T	0.48305|0.48305	-0.9047|-0.9047	8|10	0.66056|0.07813	D|T	0.02|0.8	.|.	11.5168|11.5168	0.50526|0.50526	0.9284:0.0:0.0716:0.0|0.9284:0.0:0.0716:0.0	.|.	.|64;490	.|B3KSJ2;Q9Y2G3	.|.;AT11B_HUMAN	E|R	291|490	ENSP00000418421:K291E|ENSP00000321195:K490R	ENSP00000418421:K291E|ENSP00000321195:K490R	K|K	+|+	1|2	0|0	ATP11B|ATP11B	184066775|184066775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.790000|8.790000	0.91844|0.91844	1.024000|1.024000	0.39682|0.39682	0.528000|0.528000	0.53228|0.53228	AAG|AAA		0.383	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		G	182584081	A	G	182584081	3	3	333	1	0	0	0	0	1	0	0	0	1120	14	1	3	1523	3	ATP11B	3	182584081	Missense_Mutation	SNP	A	TCGA-BP-4338-01A-01D-1806-10	40905400	182584081	15438349	21	19450											
CLGN	1047	hgsc.bcm.edu	37	4	141321658	141321658	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr4:141321658C>G	ENST00000325617.5	-	7	987	c.547G>C	c.(547-549)Gat>Cat	p.D183H	CLGN_ENST00000537281.1_Missense_Mutation_p.D183H|CLGN_ENST00000414773.1_Missense_Mutation_p.D183H	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	183					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CCACATTTATCTGGTCCAAAC	0.338																																																0													80	84	82					4																	141321658		2203	4298	6501	SO:0001583	missense	1047			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.547G>C	4.37:g.141321658C>G	ENSP00000326699:p.Asp183His		B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708158	0.89018	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.63580	-0.05;-0.05;-0.05	5.36	5.36	0.76844	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.83376	0.5241	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.86578	0.1852	10	0.87932	D	0	-28.7922	19.4559	0.94889	0.0:1.0:0.0:0.0	.	183	O14967	CLGN_HUMAN	H	183;183;183;100	ENSP00000326699:D183H;ENSP00000392782:D183H;ENSP00000439381:D183H	ENSP00000326699:D183H	D	-	1	0	CLGN	141541108	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.776000	0.85560	2.669000	0.90835	0.591000	0.81541	GAT		0.338	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		G	141321658	C	G	141321658	3	3	333	1	0	0	0	0	1	0	0	0	3526	913	32	4	1321	4	CLGN	4	141321658	Missense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10		141321658	49832618	22	19451											
DNAJC21	134218	hgsc.bcm.edu;ucsc.edu	37	5	34937560	34937560	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr5:34937560A>G	ENST00000342382.4	+	5	795	c.568A>G	c.(568-570)Aag>Gag	p.K190E	DNAJC21_ENST00000303525.7_Missense_Mutation_p.K190E|DNAJC21_ENST00000382021.2_Missense_Mutation_p.K190E			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	190					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AGAAAACAAAAAGATTCGGGA	0.418																																																0													51	58	56					5																	34937560		2203	4300	6503	SO:0001583	missense	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.568A>G	5.37:g.34937560A>G	ENSP00000343728:p.Lys190Glu		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.011839	0.93346	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.56444	0.46;0.47;0.46	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.79661	0.4484	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.998;0.997	D	0.85324	0.1086	10	0.72032	D	0.01	-26.9276	15.6979	0.77515	1.0:0.0:0.0:0.0	.	190;190;190	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	E	190	ENSP00000343728:K190E;ENSP00000371451:K190E;ENSP00000306289:K190E	ENSP00000306289:K190E	K	+	1	0	DNAJC21	34973317	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.870000	0.92336	2.159000	0.67721	0.528000	0.53228	AAG		0.418	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		G	34937560	A	G	34937560	3	3	333	1	0	0	0	0	1	0	0	0	4642	15	1	3	586	3	DNAJC21	5	34937560	Missense_Mutation	SNP	A	TCGA-BP-4338-01A-01D-1806-10		34937560	145977700	23	19452											
GTF2H2	2966	hgsc.bcm.edu	37	5	70351196	70351196	+	Missense_Mutation	SNP	T	T	C	rs200357275		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr5:70351196T>C	ENST00000330280.7	-	9	740	c.453A>G	c.(451-453)atA>atG	p.I151M	GTF2H2_ENST00000274400.5_Missense_Mutation_p.I151M|GTF2H2_ENST00000425596.2_Missense_Mutation_p.I94M|GTF2H2_ENST00000517900.1_Intron			Q13888	TF2H2_HUMAN	general transcription factor IIH, polypeptide 2, 44kDa	151	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.		I -> M. {ECO:0000269|PubMed:9063743}.		7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G-protein coupled receptor internalization (GO:0002031)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	nucleic acid binding (GO:0003676)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)|zinc ion binding (GO:0008270)			endometrium(1)|lung(1)|urinary_tract(1)	3		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TCTGCATAGCTATGCTTAGGG	0.333								Nucleotide excision repair (NER)																													Esophageal Squamous(64;995 1128 1466 1620 27952)											0													77	86	83					5																	70351196		2111	4236	6347	SO:0001583	missense	2966			Z30094	CCDS34183.1	5q13.2	2012-11-05	2002-08-29		ENSG00000145736	ENSG00000145736		"General transcription factors", "General transcription factor IIH complex subunits"	4656	protein-coding gene	gene with protein product		601748	"general transcription factor IIH, polypeptide 2 (44kD subunit)"			8194529	Standard	NM_001515		Approved	BTF2, TFIIH, BTF2P44, T-BTF2P44, p44	uc003kav.4	Q13888	OTTHUMG00000164542	ENST00000330280.7:c.453A>G	5.37:g.70351196T>C	ENSP00000328901:p.Ile151Met		Q15570|Q15571|Q9BS41	Missense_Mutation	SNP	ENST00000330280.7	37	CCDS34183.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.607573	0.00842	.	.	ENSG00000145736	ENST00000274400;ENST00000330280;ENST00000425596;ENST00000522323	T;T;T	0.26957	1.7;1.7;1.7	2.36	2.36	0.29203	Ssl1-like (1);von Willebrand factor, type A (2);	0.172283	0.52532	N	0.000073	T	0.04952	0.0133	N	0.00325	-1.645	0.20307	N	0.999914	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.003	T	0.37572	-0.9700	10	0.11794	T	0.64	.	4.6425	0.12556	0.2135:0.6562:0.0:0.1303	.	151;151	Q86U80;Q13888	.;TF2H2_HUMAN	M	151;151;94;151	ENSP00000274400:I151M;ENSP00000328901:I151M;ENSP00000394164:I94M	ENSP00000274400:I151M	I	-	3	3	GTF2H2	70386952	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	2.119000	0.41958	0.556000	0.29098	-0.971000	0.02607	ATA		0.333	GTF2H2-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372632.4	NM_001515		C	70351196	T	C	70351196	3	2	333	1	0	0	0	0	1	0	0	0	6863	1512	53	3	770	3	GTF2H2	5	70351196	Missense_Mutation	SNP	T	TCGA-BP-4338-01A-01D-1806-10	35413636	70351196	110564064	24	19453											
SLC17A1	6568	hgsc.bcm.edu	37	6	25801166	25801166	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr6:25801166C>A	ENST00000244527.4	-	11	1336	c.1221G>T	c.(1219-1221)atG>atT	p.M407I	SLC17A1_ENST00000468082.1_Missense_Mutation_p.M353I|SLC17A1_ENST00000476801.1_Missense_Mutation_p.M407I|SLC17A1_ENST00000427328.1_Missense_Mutation_p.M353I	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	407					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GTCCTCCTATCATTCCAGTTA	0.308																																																0													100	101	101					6																	25801166		2203	4297	6500	SO:0001583	missense	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.1221G>T	6.37:g.25801166C>A	ENSP00000244527:p.Met407Ile		A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	2.747	-0.260991	0.05791	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.58506	0.53;0.33;0.53;0.33	3.67	-2.04	0.07343	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.991864	0.08187	N	0.984499	T	0.25457	0.0619	L	0.44542	1.39	0.09310	N	1	B;B	0.14012	0.008;0.009	B;B	0.14023	0.006;0.01	T	0.38693	-0.9649	10	0.46703	T	0.11	.	8.2326	0.31608	0.0:0.3966:0.0:0.6034	.	353;407	Q14916-2;Q14916	.;NPT1_HUMAN	I	407;353;407;353	ENSP00000244527:M407I;ENSP00000410549:M353I;ENSP00000420614:M407I;ENSP00000420546:M353I	ENSP00000244527:M407I	M	-	3	0	SLC17A1	25909145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.579000	0.05834	-0.467000	0.06932	-0.345000	0.07892	ATG		0.308	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			A	25801166	C	A	25801166	3	1	333	1	0	0	0	0	1	0	0	0	14422	826	29	4	190	4	SLC17A1	6	25801166	Missense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10		25801166	145313901	25	19454											
BRPF3	27154	hgsc.bcm.edu	37	6	36175215	36175215	+	Silent	SNP	A	A	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr6:36175215A>T	ENST00000357641.6	+	4	1984	c.1731A>T	c.(1729-1731)cgA>cgT	p.R577R	BRPF3_ENST00000443324.2_Silent_p.R577R|BRPF3_ENST00000534694.1_Silent_p.R577R|BRPF3_ENST00000534400.1_Silent_p.R577R|BRPF3_ENST00000339717.7_Silent_p.R577R|BRPF3_ENST00000543502.1_Silent_p.R577R	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	577					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGCTCAAACGAGAGCAGGTAA	0.552																																																0													42	41	41					6																	36175215		2203	4300	6503	SO:0001819	synonymous_variant	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1731A>T	6.37:g.36175215A>T			A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	CCDS34437.1																																																																																				0.552	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		T	36175215	A	T	36175215	2	4	333	1	0	0	0	0	0	0	0	1	1523	291	11	5		5	BRPF3	6	36175215	Silent	SNP	A	TCGA-BP-4338-01A-01D-1806-10	10374049	36175215	134939852	26	19455											
TSPYL1	7259	hgsc.bcm.edu;ucsc.edu	37	6	116600312	116600312	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr6:116600312G>T	ENST00000368608.3	-	1	754	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000540275.1_Intron|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	228					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		GGGTCCATGCGGAGAGCCTCA	0.602																																																0													56	53	54					6																	116600312		2203	4300	6503	SO:0001583	missense	7259			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.682C>A	6.37:g.116600312G>T	ENSP00000357597:p.Arg228Ser		O75885|Q5TFE6	Missense_Mutation	SNP	ENST00000368608.3	37	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587794	0.28268	.	.	ENSG00000189241	ENST00000368608	T	0.28895	1.59	4.4	3.52	0.40303	.	0.000000	0.35495	N	0.003174	T	0.03827	0.0108	N	0.02830	-0.485	0.29271	N	0.870693	B	0.24092	0.097	B	0.27715	0.082	T	0.41088	-0.9528	10	0.08599	T	0.76	-6.4395	10.6155	0.45447	0.0:0.1938:0.8062:0.0	.	228	Q9H0U9	TSYL1_HUMAN	S	228	ENSP00000357597:R228S	ENSP00000357597:R228S	R	-	1	0	TSPYL1	116707005	0.701000	0.27806	0.871000	0.34182	0.983000	0.72400	1.604000	0.36804	1.439000	0.47511	0.561000	0.74099	CGC		0.602	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			T	116600312	G	T	116600312	3	4	333	1	0	0	0	0	1	0	0	0	16664	1116	39	4	635	4	TSPYL1	6	116600312	Missense_Mutation	SNP	G	TCGA-BP-4338-01A-01D-1806-10	80425097	116600312	54514755	27	19456											
RAET1L	154064	hgsc.bcm.edu	37	6	150343148	150343148	+	Missense_Mutation	SNP	A	A	C	rs78563624		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr6:150343148A>C	ENST00000367341.1	-	2	316	c.317T>G	c.(316-318)cTt>cGt	p.L106R	RAET1L_ENST00000286380.2_Missense_Mutation_p.L106R			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	106	MHC class I alpha-1 like. {ECO:0000250}.		L -> R (in dbSNP:rs1555696).		antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CTGAATGTCAAGCAGTTGCTC	0.488																																																0								A	ARG/LEU	162,4214		30,102,2056	118	91	100		317	-3.8	0	6	dbSNP_131	100	931,7549		176,579,3485	no	missense	RAET1L	NM_130900.2	102	206,681,5541	CC,CA,AA		10.9788,3.702,8.5019	probably-damaging	106/247	150343148	1093,11763	2188	4240	6428	SO:0001583	missense	154064			AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.317T>G	6.37:g.150343148A>C	ENSP00000356310:p.Leu106Arg		A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	CCDS5224.1	568	0.2600732600732601	74	0.15040650406504066	102	0.281767955801105	99	0.17307692307692307	293	0.3865435356200528	a	0.978	-0.698139	0.03279	0.03702	0.109788	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.00638	6.04;6.04	1.91	-3.81	0.04294	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00210	0.0006	L	0.40543	1.245	0.80722	P	0.0	B	0.32382	0.368	B	0.35114	0.196	T	0.28459	-1.0043	8	0.33940	T	0.23	.	3.8488	0.08946	0.218:0.4486:0.0:0.3334	.	106	Q5VY80	RET1L_HUMAN	R	106	ENSP00000356310:L106R;ENSP00000286380:L106R	ENSP00000286380:L106R	L	-	2	0	RAET1L	150384841	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.702000	0.00823	-2.111000	0.00836	0.402000	0.26972	CTT		0.488	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		C	150343148	A	C	150343148	3	2	333	1	0	0	0	0	1	0	0	0	13007	72	3	5	434	5	RAET1L	6	150343148	Missense_Mutation	SNP	A	TCGA-BP-4338-01A-01D-1806-10	33742836	150343148	20771919	28	19457											
MCPH1	79648	hgsc.bcm.edu	37	8	6302121	6302122	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr8:6302121_6302122delGT	ENST00000344683.5	+	8	954_955	c.878_879delGT	c.(877-879)agtfs	p.S293fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.S245fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.S293fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	293					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAATTTCTGAGTAATCTTTCAA	0.371																																					Colon(95;1448 1467 8277 34473 35819)											0																																										SO:0001589	frameshift_variant	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.878_879delGT	8.37:g.6302121_6302122delGT	ENSP00000342924:p.Ser293fs		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	CCDS43689.1																																																																																				0.371	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		-	6302122	GT	-	6302121	7	5	333	1	0	1	0	1	0	0	0	0	9400	1029	36	0	908	0	MCPH1	8	6302121	Frame_Shift_Del	DEL	GT	TCGA-BP-4338-01A-01D-1806-10		6302121	140061901	29	19458											
MTUS1	57509	hgsc.bcm.edu;ucsc.edu	37	8	17581247	17581247	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr8:17581247G>A	ENST00000262102.6	-	4	2607	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381861.3_5'Flank|MTUS1_ENST00000544260.1_5'Flank|MTUS1_ENST00000381869.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	795					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CCTGTCCTCCGCAGCGCAGGA	0.488																																																0													122	116	118					8																	17581247		1923	4122	6045	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2383C>T	8.37:g.17581247G>A	ENSP00000262102:p.Arg795Trp		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755006	0.49362	.	.	ENSG00000129422	ENST00000262102	T	0.36157	1.27	3.42	0.297	0.15762	.	0.869334	0.09600	N	0.780298	T	0.34424	0.0897	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	P	0.53861	0.736	T	0.29181	-1.0020	10	0.66056	D	0.02	0.0362	8.4454	0.32838	0.0:0.2846:0.4559:0.2595	.	795	Q9ULD2	MTUS1_HUMAN	W	795	ENSP00000262102:R795W	ENSP00000262102:R795W	R	-	1	2	MTUS1	17625527	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	-0.016000	0.12613	0.036000	0.15547	0.655000	0.94253	CGG		0.488	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		A	17581247	G	A	17581247	3	1	333	1	0	0	0	0	1	0	0	0	9967	1086	38	1	1796	1	MTUS1	8	17581247	Missense_Mutation	SNP	G	TCGA-BP-4338-01A-01D-1806-10	11279126	17581247	128782775	30	19459											
VPS13B	157680	hgsc.bcm.edu;ucsc.edu	37	8	100871685	100871685	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr8:100871685C>A	ENST00000358544.2	+	57	11207	c.11096C>A	c.(11095-11097)tCg>tAg	p.S3699*	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.S3674*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3699					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGGACCACATCGTTTGTAAAG	0.507																																					Colon(161;2205 2542 7338 31318)											0													54	59	57					8																	100871685		2203	4300	6503	SO:0001587	stop_gained	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11096C>A	8.37:g.100871685C>A	ENSP00000351346:p.Ser3699*		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	53	20.419327	0.99930	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	.	.	.	5.93	5.93	0.95920	.	0.127489	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	.	.	.	X	3674;3699	.	ENSP00000349685:S3674X	S	+	2	0	VPS13B	100940861	1.000000	0.71417	0.111000	0.21465	0.667000	0.39255	7.487000	0.81328	2.814000	0.96858	0.563000	0.77884	TCG		0.507	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		A	100871685	C	A	100871685	4	1	333	1	0	0	0	0	0	1	0	0	17195	893	31	4	11512	4	VPS13B	8	100871685	Nonsense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10	83290438	100871685	45492337	31	19460											
ZFAT	57623	hgsc.bcm.edu	37	8	135621044	135621044	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr8:135621044A>T	ENST00000377838.3	-	5	887	c.713T>A	c.(712-714)cTg>cAg	p.L238Q	ZFAT_ENST00000429442.2_Missense_Mutation_p.L226Q|ZFAT_ENST00000523399.1_Missense_Mutation_p.L176Q|ZFAT_ENST00000520727.1_Missense_Mutation_p.L226Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.L226Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.L226Q	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	238					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CCGAGGCACCAGGTCTGCTGA	0.493																																																0													101	100	100					8																	135621044		1932	4125	6057	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.713T>A	8.37:g.135621044A>T	ENSP00000367069:p.Leu238Gln		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.373595	0.42105	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257	T;T;T;T;T;T;T	0.44881	2.9;2.83;2.87;2.85;2.83;2.9;0.91	5.94	4.8	0.61643	.	0.415345	0.22937	N	0.053836	T	0.17280	0.0415	N	0.08118	0	0.27963	N	0.936717	B;B;B;B	0.28850	0.205;0.144;0.225;0.055	B;B;B;B	0.23574	0.02;0.014;0.047;0.01	T	0.07597	-1.0764	10	0.19590	T	0.45	-15.0079	3.3842	0.07265	0.6769:0.0:0.1388:0.1843	.	176;226;226;238	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	Q	226;226;226;238;226;226;176;226;176	ENSP00000427879:L226Q;ENSP00000427831:L226Q;ENSP00000394501:L226Q;ENSP00000367069:L238Q;ENSP00000428483:L226Q;ENSP00000429091:L176Q;ENSP00000429983:L176Q	ENSP00000326997:L226Q	L	-	2	0	ZFAT	135690226	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	3.038000	0.49783	2.279000	0.76181	0.459000	0.35465	CTG		0.493	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		T	135621044	A	T	135621044	3	4	333	1	0	0	0	0	1	0	0	0	17637	188	7	5	3066	5	ZFAT	8	135621044	Missense_Mutation	SNP	A	TCGA-BP-4338-01A-01D-1806-10	34749359	135621044	10742978	32	19461											
C8orf31	286122	hgsc.bcm.edu;ucsc.edu	37	8	144124450	144124450	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr8:144124450A>G	ENST00000395172.1	+	2	384	c.32A>G	c.(31-33)aAt>aGt	p.N11S	C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	11										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AATTCCTGCAATTCAGTGAGG	0.597																																																0													79	82	81					8																	144124450		2203	4300	6503	SO:0001583	missense	286122				CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.32A>G	8.37:g.144124450A>G	ENSP00000378601:p.Asn11Ser		Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	37	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	a	0.346	-0.947585	0.02304	.	.	ENSG00000177335	ENST00000395172	T	0.52983	0.64	1.03	-2.06	0.07298	.	.	.	.	.	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.05115	-1.0905	9	0.40728	T	0.16	.	4.1628	0.10293	0.243:0.4057:0.3513:0.0	.	11	Q8N9H6	CH031_HUMAN	S	11	ENSP00000378601:N11S	ENSP00000378601:N11S	N	+	2	0	C8orf31	144195825	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.049000	0.11924	-2.970000	0.00286	-0.639000	0.03973	AAT		0.597	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		G	144124450	A	G	144124450	3	3	333	1	0	0	0	0	1	0	0	0	2422	101	4	3	34	3	C8orf31	8	144124450	Missense_Mutation	SNP	A	TCGA-BP-4338-01A-01D-1806-10	8503406	144124450	2239572	33	19462											
HAUS6	54801	hgsc.bcm.edu;ucsc.edu	37	9	19058758	19058759	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr9:19058758_19058759delAT	ENST00000380502.3	-	16	2473_2474	c.2006_2007delAT	c.(2005-2007)catfs	p.H669fs	HAUS6_ENST00000380496.1_Frame_Shift_Del_p.H533fs	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	669					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGTCAGCACATGTTTCTGAGG	0.376																																																0																																										SO:0001589	frameshift_variant	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2006_2007delAT	9.37:g.19058758_19058759delAT	ENSP00000369871:p.His669fs		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Frame_Shift_Del	DEL	ENST00000380502.3	37	CCDS6489.1																																																																																				0.376	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		-	19058759	AT	-	19058758	7	5	333	1	0	1	0	1	0	0	0	0	6972	214	8	0	868	0	HAUS6	9	19058758	Frame_Shift_Del	DEL	AT	TCGA-BP-4338-01A-01D-1806-10		19058758	122154673	34	19463											
SDCCAG3	10807	hgsc.bcm.edu	37	9	139297266	139297266	+	Missense_Mutation	SNP	C	C	T	rs17855450	byFrequency	TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr9:139297266C>T	ENST00000357365.3	-	10	1411	c.1282G>A	c.(1282-1284)Gtt>Att	p.V428I	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.V355I|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.V405I|SDCCAG3_ENST00000461693.1_5'UTR	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	428			V -> I (in dbSNP:rs17855450). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCGTCTTTAACTTCAGAAATT	0.468													T|||	80	0.0159744	0.0197	0.0346	5008	,	,		15404	0.0		0.0288	False		,,,				2504	0.001															0								T	ILE/VAL,ILE/VAL,ILE/VAL	112,3632		3,106,1763	45	45	45		1282,1063,1213	-0.1	0.1	9	dbSNP_123	45	260,7928		4,252,3838	no	missense,missense,missense	SDCCAG3	NM_001039707.1,NM_001039708.1,NM_006643.3	29,29,29	7,358,5601	TT,TC,CC		3.1754,2.9915,3.1177	benign,benign,benign	428/436,355/363,405/413	139297266	372,11560	1872	4094	5966	SO:0001583	missense	10807			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.1282G>A	9.37:g.139297266C>T	ENSP00000349929:p.Val428Ile		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	CCDS43904.1	43	0.019688644688644688	12	0.024390243902439025	16	0.04419889502762431	0	0.0	15	0.01978891820580475	t	0.008	-1.870053	0.00542	0.029915	0.031754	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725	T;T;T	0.14640	2.49;2.49;2.49	4.87	-0.113	0.13568	.	0.413716	0.25307	N	0.031603	T	0.00936	0.0031	N	0.04880	-0.145	0.09310	N	0.999994	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.41502	-0.9505	10	0.09590	T	0.72	-32.2999	5.4297	0.16446	0.0:0.3545:0.1494:0.496	rs17855450	355;405;428	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	I	428;405;355	ENSP00000349929:V428I;ENSP00000298537:V405I;ENSP00000360790:V355I	ENSP00000298537:V405I	V	-	1	0	SDCCAG3	138417087	0.080000	0.21391	0.089000	0.20774	0.041000	0.13682	-0.247000	0.08866	-0.225000	0.09913	-1.311000	0.01308	GTT		0.468	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		T	139297266	C	T	139297266	3	4	333	1	0	0	0	0	1	0	0	0	13964	565	20	2	29	2	SDCCAG3	9	139297266	Missense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10	120238508	139297266	1916165	35	19464											
DHTKD1	55526	hgsc.bcm.edu	37	10	12139743	12139743	+	Silent	SNP	G	G	A	rs370218003		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr10:12139743G>A	ENST00000263035.4	+	8	1481	c.1419G>A	c.(1417-1419)acG>acA	p.T473T	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	473					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GACTCATGACGCAGGAGGAGG	0.488																																																0								G		0,4406		0,0,2203	64	59	61		1419	0	1	10		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DHTKD1	NM_018706.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		473/920	12139743	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1419G>A	10.37:g.12139743G>A			Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	3.163	-0.171759	0.06421	0.0	1.16E-4	ENSG00000181192	ENST00000448829	.	.	.	5.34	0.0383	0.14199	.	.	.	.	.	T	0.42245	0.1194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20806	-1.0264	4	.	.	.	-13.2177	2.02	0.03506	0.32:0.2162:0.3239:0.1399	.	.	.	.	T	25	.	.	A	+	1	0	DHTKD1	12179749	0.033000	0.19621	0.992000	0.48379	0.374000	0.29953	-0.906000	0.04071	-0.264000	0.09365	-1.509000	0.00949	GCA		0.488	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		A	12139743	G	A	12139743	2	1	333	1	0	0	0	0	0	0	0	1	4502	1074	38	1		1	DHTKD1	10	12139743	Silent	SNP	G	TCGA-BP-4338-01A-01D-1806-10		12139743	123395004	36	19465											
MICAL2	9645	hgsc.bcm.edu	37	11	12246315	12246315	+	Missense_Mutation	SNP	C	C	T	rs190895714	byFrequency	TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr11:12246315C>T	ENST00000256194.4	+	13	1924	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C	MICAL2_ENST00000537344.1_Missense_Mutation_p.R546C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R546C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R546C|MICAL2_ENST00000342902.5_Missense_Mutation_p.R546C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	546	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CACATCCTGGCGCAGTGGGTT	0.637													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17659	0.001		0.0	False		,,,				2504	0.0															0								C	CYS/ARG	0,4402		0,0,2201	109	90	96		1636	1.8	1	11		96	1,8587	1.2+/-3.3	0,1,4293	no	missense	MICAL2	NM_014632.2	180	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	546/1125	12246315	1,12989	2201	4294	6495	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1636C>T	11.37:g.12246315C>T	ENSP00000256194:p.Arg546Cys		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.77	3.889212	0.72524	0.0	1.16E-4	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69	5.01	1.82	0.25136	Calponin homology domain (5);	0.200485	0.39475	N	0.001357	D	0.97424	0.9157	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.998	D;D;D;D;D	0.71414	0.912;0.947;0.973;0.947;0.96	D	0.97478	1.0045	10	0.87932	D	0	.	12.6403	0.56707	0.667:0.333:0.0:0.0	.	546;546;546;546;546	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	C	546;79;546;546;546;546	ENSP00000441689:R546C;ENSP00000256194:R546C;ENSP00000433965:R546C;ENSP00000344894:R546C;ENSP00000368932:R546C	ENSP00000256194:R546C	R	+	1	0	MICAL2	12202891	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.037000	0.49775	0.683000	0.31428	-0.181000	0.13052	CGC		0.637	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		T	12246315	C	T	12246315	3	4	333	1	0	0	0	0	1	0	0	0	9572	768	27	1	1678	1	MICAL2	11	12246315	Missense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10		12246315	122760201	37	19466											
LDHA	3939	hgsc.bcm.edu	37	11	18424451	18424451	+	Silent	SNP	C	C	T	rs5030621	byFrequency	TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr11:18424451C>T	ENST00000422447.3	+	5	756	c.483C>T	c.(481-483)agC>agT	p.S161S	LDHA_ENST00000396222.2_Silent_p.S161S|LDHA_ENST00000227157.4_Silent_p.S161S|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000540430.1_Silent_p.S190S|LDHA_ENST00000430553.2_Silent_p.S103S|LDHA_ENST00000542179.1_Silent_p.S161S|LDHA_ENST00000379412.5_Silent_p.S161S	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	161			S -> R (in dbSNP:rs5030621).		cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						TTATTGGAAGCGGTTGCAATC	0.458													T|||	3178	0.634585	0.4183	0.7334	5008	,	,		16176	0.6478		0.7336	False		,,,				2504	0.7413															0								T	,,,,	2105,2293	601.8+/-389.8	500,1105,594	116	110	112		309,570,483,483,483	5.3	1	11	dbSNP_113	112	6102,2480	407.7+/-349.2	2172,1758,361	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LDHA	NM_001135239.1,NM_001165414.1,NM_001165415.1,NM_001165416.1,NM_005566.3	,,,,	2672,2863,955	TT,TC,CC		28.8977,47.8627,36.772	,,,,	103/275,190/362,161/275,161/242,161/333	18424451	8207,4773	2199	4291	6490	SO:0001819	synonymous_variant	3939			X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.483C>T	11.37:g.18424451C>T			B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Silent	SNP	ENST00000422447.3	37	CCDS7839.1																																																																																				0.458	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		T	18424451	C	T	18424451	2	4	333	1	0	0	0	0	0	0	0	1	8700	767	27	1		1	LDHA	11	18424451	Silent	SNP	C	TCGA-BP-4338-01A-01D-1806-10	6178136	18424451	116582065	38	19467											
MRGPRX2	117194	hgsc.bcm.edu;ucsc.edu	37	11	19077607	19077607	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr11:19077607C>T	ENST00000329773.2	-	2	430	c.343G>A	c.(343-345)Gca>Aca	p.A115T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	115					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTCAGGCCTGCAAGGTAGGCA	0.562																																					GBM(198;1966 2199 4849 37227 49954)											0													94	91	92					11																	19077607		2199	4293	6492	SO:0001583	missense	117194				CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.343G>A	11.37:g.19077607C>T	ENSP00000333800:p.Ala115Thr		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	17.07	3.293851	0.60086	.	.	ENSG00000183695	ENST00000329773	T	0.76060	-0.99	5.26	-7.24	0.01475	GPCR, rhodopsin-like superfamily (1);	1.035100	0.07607	N	0.924643	T	0.50188	0.1601	N	0.17723	0.515	0.09310	N	1	B	0.28026	0.198	B	0.28011	0.085	T	0.38308	-0.9667	10	0.19147	T	0.46	.	5.6305	0.17508	0.2899:0.2505:0.0:0.4596	.	115	Q96LB1	MRGX2_HUMAN	T	115	ENSP00000333800:A115T	ENSP00000333800:A115T	A	-	1	0	MRGPRX2	19034183	0.000000	0.05858	0.000000	0.03702	0.946000	0.59487	-0.831000	0.04405	-1.258000	0.02471	0.655000	0.94253	GCA		0.562	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		T	19077607	C	T	19077607	3	4	333	1	0	0	0	0	1	0	0	0	9769	710	25	2	653	2	MRGPRX2	11	19077607	Missense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10	653156	19077607	115928909	39	19468											
ZNF641	121274	hgsc.bcm.edu;ucsc.edu	37	12	48739161	48739161	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr12:48739161T>A	ENST00000544117.2	-	4	1123	c.415A>T	c.(415-417)Atg>Ttg	p.M139L	ZNF641_ENST00000547026.1_Missense_Mutation_p.M125L|ZNF641_ENST00000301042.3_Missense_Mutation_p.M139L|ZNF641_ENST00000448928.3_Intron			Q96N77	ZN641_HUMAN	zinc finger protein 641	139	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TTTTCCTGCATGACATATTCT	0.522																																																0													95	90	92					12																	48739161		2203	4300	6503	SO:0001583	missense	121274			BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"Zinc fingers, C2H2-type", "-"	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.415A>T	12.37:g.48739161T>A	ENSP00000437832:p.Met139Leu		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	T	8.317	0.823436	0.16678	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000547026	T;T;T	0.03181	4.02;4.02;4.02	5.54	5.54	0.83059	Krueppel-associated box (4);	0.000000	0.85682	D	0.000000	T	0.11750	0.0286	L	0.48877	1.53	0.38262	D	0.9419	P	0.44309	0.832	P	0.61275	0.886	T	0.11518	-1.0584	10	0.34782	T	0.22	.	13.9163	0.63899	0.0:0.0:0.0:1.0	.	139	Q96N77	ZN641_HUMAN	L	139;139;125	ENSP00000301042:M139L;ENSP00000437832:M139L;ENSP00000449974:M125L	ENSP00000301042:M139L	M	-	1	0	ZNF641	47025428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.352000	0.52239	2.243000	0.73865	0.533000	0.62120	ATG		0.522	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		A	48739161	T	A	48739161	3	1	333	1	0	0	0	0	1	0	0	0	18062	1464	51	5	913	5	ZNF641	12	48739161	Missense_Mutation	SNP	T	TCGA-BP-4338-01A-01D-1806-10		48739161	85112734	40	19469			1	32		2	2	19	N	T_A	3.546822e-05
ZNF641	121274	hgsc.bcm.edu;ucsc.edu	37	12	48739179	48739179	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr12:48739179A>T	ENST00000544117.2	-	4	1105	c.397T>A	c.(397-399)Ttt>Att	p.F133I	ZNF641_ENST00000547026.1_Missense_Mutation_p.F119I|ZNF641_ENST00000301042.3_Missense_Mutation_p.F133I|ZNF641_ENST00000448928.3_Intron			Q96N77	ZN641_HUMAN	zinc finger protein 641	133	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TCTCCATAAAAGTCTGTCTGA	0.493																																																0													86	84	85					12																	48739179		2203	4300	6503	SO:0001583	missense	121274			BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"Zinc fingers, C2H2-type", "-"	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.397T>A	12.37:g.48739179A>T	ENSP00000437832:p.Phe133Ile		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442969	0.63067	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000547026;ENST00000548932	T;T;T;T	0.01902	4.57;4.57;4.57;4.57	5.54	5.54	0.83059	Krueppel-associated box (4);	0.091491	0.48767	D	0.000171	T	0.07143	0.0181	L	0.61218	1.895	0.38260	D	0.941853	D	0.55605	0.972	P	0.57204	0.815	T	0.04153	-1.0973	10	0.72032	D	0.01	.	8.4684	0.32971	0.9134:0.0:0.0866:0.0	.	133	Q96N77	ZN641_HUMAN	I	133;133;119;133	ENSP00000301042:F133I;ENSP00000437832:F133I;ENSP00000449974:F119I;ENSP00000448810:F133I	ENSP00000301042:F133I	F	-	1	0	ZNF641	47025446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.945000	0.56637	2.243000	0.73865	0.533000	0.62120	TTT		0.493	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		T	48739179	A	T	48739179	3	4	333	1	0	0	0	0	1	0	0	0	18062	72	3	5	931	5	ZNF641	12	48739179	Missense_Mutation	SNP	A	TCGA-BP-4338-01A-01D-1806-10	18	48739179	85112716	41	19470			1	32		2	2	19	N	T_A	3.546822e-05
RNF17	56163	hgsc.bcm.edu;ucsc.edu	37	13	25419107	25419107	+	Silent	SNP	G	G	C			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr13:25419107G>C	ENST00000255324.5	+	22	3043	c.2991G>C	c.(2989-2991)ctG>ctC	p.L997L	RNF17_ENST00000381921.1_Silent_p.L997L|RNF17_ENST00000339524.3_Silent_p.L49L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	997	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGGTCTTGCTGTATGATGTGG	0.318																																																0													125	129	128					13																	25419107		2203	4300	6503	SO:0001819	synonymous_variant	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2991G>C	13.37:g.25419107G>C			Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	CCDS9308.2																																																																																				0.318	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		C	25419107	G	C	25419107	2	2	333	1	0	0	0	0	0	0	0	1	13467	1364	48	4		4	RNF17	13	25419107	Silent	SNP	G	TCGA-BP-4338-01A-01D-1806-10		25419107	89750771	42	19471											
POTEG	404785	hgsc.bcm.edu	37	14	19574243	19574243	+	Missense_Mutation	SNP	C	C	A	rs200779890		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr14:19574243C>A	ENST00000409832.3	+	9	1352	c.1300C>A	c.(1300-1302)Cct>Act	p.P434T		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	434				P -> T (in Ref. 1; AAS58871 and 3; AAI27624). {ECO:0000305}.						cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAAAACCTGCCTAACGGTGC	0.408																																																0													1	1	1					14																	19574243		283	662	945	SO:0001583	missense	404785				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1300C>A	14.37:g.19574243C>A	ENSP00000386971:p.Pro434Thr		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	CCDS32018.1	431	0.19734432234432234	111	0.22560975609756098	61	0.1685082872928177	79	0.1381118881118881	180	0.23746701846965698	A	0.001	-2.939128	0.00052	.	.	ENSG00000222036	ENST00000409832	T	0.25250	1.81	1.47	-2.94	0.05581	.	.	.	.	.	T	0.00012	0.0000	N	0.02247	-0.625	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13872	-1.0493	8	0.02654	T	1	.	0.5559	0.00671	0.2081:0.3317:0.2012:0.259	.	434	Q6S5H5	POTEG_HUMAN	T	434	ENSP00000386971:P434T	ENSP00000386971:P434T	P	+	1	0	POTEG	18644243	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.265000	0.01172	-2.568000	0.00469	-1.447000	0.01057	CCT		0.408	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		A	19574243	C	A	19574243	3	1	333	1	0	0	0	0	1	0	0	0	12268	739	26	4	1334	4	POTEG	14	19574243	Missense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10		19574243	87775297	43	19472											
CHRFAM7A	89832	hgsc.bcm.edu	37	15	30664489	30664489	+	Silent	SNP	A	A	G	rs200611153		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr15:30664489A>G	ENST00000299847.2	-	7	837	c.384T>C	c.(382-384)ccT>ccC	p.P128P	CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000401522.3_Silent_p.P37P|CHRFAM7A_ENST00000397827.3_Silent_p.P37P	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	128						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		AGGTGACATCAGGGTAGGGCT	0.552																																																0													94	91	92					15																	30664489		1674	3596	5270	SO:0001819	synonymous_variant	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.384T>C	15.37:g.30664489A>G			A8KAB9	Silent	SNP	ENST00000299847.2	37	CCDS32184.1																																																																																				0.552	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		G	30664489	A	G	30664489	2	3	333	1	0	0	0	0	0	0	0	1	3377	175	7	3		3	CHRFAM7A	15	30664489	Silent	SNP	A	TCGA-BP-4338-01A-01D-1806-10		30664489	71866903	44	19473											
DNAH3	55567	hgsc.bcm.edu;ucsc.edu	37	16	20975125	20975125	+	Missense_Mutation	SNP	C	C	T	rs553011109	byFrequency	TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr16:20975125C>T	ENST00000261383.3	-	53	10080	c.10081G>A	c.(10081-10083)Gtg>Atg	p.V3361M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3361					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAACGGCACACGTTGTTGTAG	0.478													C|||	8	0.00159744	0.0	0.0	5008	,	,		24555	0.0		0.0	False		,,,				2504	0.0082															0													153	118	130					16																	20975125		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10081G>A	16.37:g.20975125C>T	ENSP00000261383:p.Val3361Met		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.632090	0.67015	.	.	ENSG00000158486	ENST00000261383	T	0.68025	-0.3	5.78	4.83	0.62350	.	0.069863	0.56097	D	0.000029	D	0.87501	0.6193	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91654	0.5337	10	0.87932	D	0	.	14.8395	0.70212	0.0:0.931:0.0:0.069	.	3361	Q8TD57	DYH3_HUMAN	M	3361	ENSP00000261383:V3361M	ENSP00000261383:V3361M	V	-	1	0	DNAH3	20882626	0.985000	0.35326	0.831000	0.32960	0.913000	0.54294	2.698000	0.47068	1.449000	0.47699	0.563000	0.77884	GTG		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	20975125	C	T	20975125	3	4	333	1	0	0	0	0	1	0	0	0	4605	536	19	1	2308	1	DNAH3	16	20975125	Missense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10		20975125	69379628	45	19474											
TK2	7084	hgsc.bcm.edu;ucsc.edu	37	16	66582905	66582905	+	Missense_Mutation	SNP	T	T	A	rs281865500		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr16:66582905T>A	ENST00000451102.2	-	2	482	c.132A>T	c.(130-132)gaA>gaT	p.E44D	TK2_ENST00000299697.7_Missense_Mutation_p.E86D|TK2_ENST00000564917.1_Missense_Mutation_p.E44D|TK2_ENST00000544898.1_5'UTR|TK2_ENST00000525974.1_5'UTR|TK2_ENST00000417693.3_Missense_Mutation_p.E44D|TK2_ENST00000527800.1_5'UTR|TK2_ENST00000527284.1_Missense_Mutation_p.E13D|Y_RNA_ENST00000563151.1_lincRNA|TK2_ENST00000563369.2_5'UTR|TK2_ENST00000545043.2_Missense_Mutation_p.E44D			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	44					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CTTTTTCCTGTTCTTTATCTA	0.318																																																0			GRCh37	CD084235	TK2	D							135	149	144					16																	66582905		2200	4300	6500	SO:0001583	missense	7084				CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.132A>T	16.37:g.66582905T>A	ENSP00000414334:p.Glu44Asp		B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Missense_Mutation	SNP	ENST00000451102.2	37	CCDS10805.2	.	.	.	.	.	.	.	.	.	.	T	12.91	2.080891	0.36758	.	.	ENSG00000166548	ENST00000299697;ENST00000417693;ENST00000545043;ENST00000451102;ENST00000527284	D;D;D;D;D	0.98762	-5.11;-4.78;-4.62;-5.07;-5.12	4.44	3.34	0.38264	.	0.728684	0.13466	N	0.385761	D	0.90851	0.7126	N	0.00621	-1.32	0.80722	D	1	B;B;B;B;B	0.29766	0.039;0.011;0.256;0.039;0.25	B;B;B;B;B	0.30105	0.014;0.01;0.052;0.014;0.111	D	0.86530	0.1821	10	0.20046	T	0.44	-8.1341	6.6408	0.22909	0.0:0.108:0.0:0.892	.	86;44;8;86;13	Q8IZR3;O00142;A4IF54;E5KNQ5;O00142-2	.;KITM_HUMAN;.;.;.	D	86;44;44;44;13	ENSP00000299697:E86D;ENSP00000407469:E44D;ENSP00000438143:E44D;ENSP00000414334:E44D;ENSP00000435312:E13D	ENSP00000299697:E86D	E	-	3	2	TK2	65140406	1.000000	0.71417	0.985000	0.45067	0.893000	0.52053	3.242000	0.51384	0.847000	0.35167	0.496000	0.49642	GAA		0.318	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4			A	66582905	T	A	66582905	3	1	333	1	0	0	0	0	1	0	0	0	15938	1722	60	5	701	5	TK2	16	66582905	Missense_Mutation	SNP	T	TCGA-BP-4338-01A-01D-1806-10	45607780	66582905	23771848	46	19475											
ZNF19	7567	hgsc.bcm.edu;ucsc.edu	37	16	71512809	71512809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr16:71512809C>A	ENST00000288177.5	-	4	388	c.133G>T	c.(133-135)Gag>Tag	p.E45*	ZNF19_ENST00000565637.1_Nonsense_Mutation_p.E3*|ZNF19_ENST00000565100.2_Intron|ZNF19_ENST00000564230.1_Nonsense_Mutation_p.E45*|AC010547.9_ENST00000561908.1_Nonsense_Mutation_p.E45*|ZNF19_ENST00000567225.1_Nonsense_Mutation_p.E45*	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		CCAAAATTCTCCAACATCACA	0.512																																																0													160	161	161					16																	71512809		2198	4300	6498	SO:0001587	stop_gained	7567			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"Zinc fingers, C2H2-type", "-"	12981	protein-coding gene	gene with protein product		194525	"zinc finger protein 19 (KOX 12)"			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.133G>T	16.37:g.71512809C>A	ENSP00000288177:p.Glu45*		A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Nonsense_Mutation	SNP	ENST00000288177.5	37	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	37	6.524517	0.97637	.	.	ENSG00000157429	ENST00000288177	.	.	.	3.0	3.0	0.34707	.	0.000000	0.34879	N	0.003617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.243	0.54553	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000288177:E45X	E	-	1	0	ZNF19	70070310	0.139000	0.22563	1.000000	0.80357	0.893000	0.52053	0.221000	0.17680	1.977000	0.57605	0.563000	0.77884	GAG		0.512	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		A	71512809	C	A	71512809	4	1	333	1	0	0	0	0	0	1	0	0	17760	864	30	4	1255	4	ZNF19	16	71512809	Nonsense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10	4929904	71512809	18841944	47	19476											
ZNF286A	57335	hgsc.bcm.edu;ucsc.edu	37	17	15620445	15620445	+	Silent	SNP	C	C	T	rs375693547		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr17:15620445C>T	ENST00000464847.2	+	5	1960	c.1407C>T	c.(1405-1407)agC>agT	p.S469S	ZNF286A_ENST00000583566.1_Silent_p.S469S|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Silent_p.S469S|ZNF286A_ENST00000413242.2_Silent_p.S469S|ZNF286A_ENST00000593105.1_Silent_p.S459S|ZNF286A_ENST00000585171.1_Intron			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		ACAAATGTAGCGAGTGTGGAA	0.403																																																0								T	,	1,4405		0,1,2202	67	71	70		1407,1407	0.2	0.6	17	dbSNP_134	70	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	ZNF286A	NM_001130842.1,NM_020652.2	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	469/522,469/522	15620445	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	57335			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1407C>T	17.37:g.15620445C>T			B4DKF9|Q96JF3	Silent	SNP	ENST00000464847.2	37	CCDS11172.1																																																																																				0.403	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		T	15620445	C	T	15620445	2	4	333	1	0	0	0	0	0	0	0	1	17828	767	27	1		1	ZNF286A	17	15620445	Silent	SNP	C	TCGA-BP-4338-01A-01D-1806-10		15620445	65574765	48	19477											
CCDC144B	348254	hgsc.bcm.edu;ucsc.edu	37	17	18486814	18486815	+	IGR	INS	-	-	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr17:18486814_18486815insT								CTD-2303H24.2 (41580 upstream) : CCDC144B (4777 downstream)																							TTCTTTTCTCCCATTTTCTTGT	0.317																																																0																																										SO:0001628	intergenic_variant	284047																															17.37:g.18486814_18486815insT				Frame_Shift_Ins	INS		37																																																																																				0	0.317									T	18486815	-	T	18486814	6	5	333	0	1	1	1	0	0	0	0	0	2780	623	22	0		0	CCDC144B	17	18486814	IGR	INS	-	TCGA-BP-4338-01A-01D-1806-10	2866369	18486814	62708396	49	19478											
LRRC37B	114659	hgsc.bcm.edu;ucsc.edu	37	17	30358422	30358422	+	Missense_Mutation	SNP	A	A	G	rs201006374		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr17:30358422A>G	ENST00000341671.7	+	5	1926	c.1921A>G	c.(1921-1923)Aaa>Gaa	p.K641E	LRRC37B_ENST00000327564.7_Missense_Mutation_p.K668E|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000543378.2_Missense_Mutation_p.K559E|LRRC37B_ENST00000584368.1_Intron	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	641				K -> E (in Ref. 1; CAC44536). {ECO:0000305}.		cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTTAATTACAAAACTGAGCCT	0.323																																																0													49	53	52					17																	30358422		2200	4299	6499	SO:0001583	missense	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1921A>G	17.37:g.30358422A>G	ENSP00000340519:p.Lys641Glu		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-2.942420	0.00052	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000341671	T;T;T	0.50813	0.73;0.73;0.73	2.36	1.37	0.22104	.	.	.	.	.	T	0.19366	0.0465	N	0.05487	-0.04	0.29610	N	0.847023	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	9	0.02654	T	1	.	4.6522	0.12601	0.331:0.0:0.669:0.0	.	641	Q96QE4	LR37B_HUMAN	E	559;668;641	ENSP00000443345:K559E;ENSP00000332536:K668E;ENSP00000340519:K641E	ENSP00000332536:K668E	K	+	1	0	LRRC37B	27382535	0.001000	0.12720	0.267000	0.24556	0.060000	0.15804	0.143000	0.16115	0.111000	0.17947	-0.411000	0.06167	AAA		0.323	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		G	30358422	A	G	30358422	3	3	333	1	0	0	0	0	1	0	0	0	8996	15	1	3	1939	3	LRRC37B	17	30358422	Missense_Mutation	SNP	A	TCGA-BP-4338-01A-01D-1806-10	11871608	30358422	50836788	50	19479											
NPEPPS	9520	hgsc.bcm.edu;ucsc.edu	37	17	45656826	45656826	+	Silent	SNP	A	A	G	rs2661174		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr17:45656826A>G	ENST00000322157.4	+	4	726	c.489A>G	c.(487-489)aaA>aaG	p.K163K	NPEPPS_ENST00000530173.1_Silent_p.K159K|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Silent_p.K119K	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	163					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ATAGAAGTAAATATACTACCC	0.338																																																0													46	44	44					17																	45656826		1815	4073	5888	SO:0001819	synonymous_variant	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.489A>G	17.37:g.45656826A>G			B7Z463|Q6P145|Q9NP16|Q9UEM2	Silent	SNP	ENST00000322157.4	37	CCDS45721.1																																																																																				0.338	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		G	45656826	A	G	45656826	2	3	333	1	0	0	0	0	0	0	0	1	10577	98	4	3		3	NPEPPS	17	45656826	Silent	SNP	A	TCGA-BP-4338-01A-01D-1806-10	15298404	45656826	35538384	51	19480											
MTMR4	9110	hgsc.bcm.edu;ucsc.edu	37	17	56572562	56572562	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr17:56572562T>C	ENST00000323456.5	-	16	3065	c.2941A>G	c.(2941-2943)Atg>Gtg	p.M981V	MTMR4_ENST00000579925.1_Missense_Mutation_p.M924V	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	981					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACAACCACATCTGGTTCTTT	0.512																																																0													176	172	174					17																	56572562		2203	4300	6503	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2941A>G	17.37:g.56572562T>C	ENSP00000325285:p.Met981Val		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	T	5.755	0.323779	0.10900	.	.	ENSG00000108389	ENST00000323456	D	0.92299	-3.01	5.68	4.6	0.57074	.	1.420310	0.03734	N	0.254009	D	0.84234	0.5427	N	0.08118	0	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.71906	-0.4451	10	0.36615	T	0.2	.	6.7046	0.23244	0.1463:0.0:0.2936:0.5601	.	981	Q9NYA4	MTMR4_HUMAN	V	981	ENSP00000325285:M981V	ENSP00000325285:M981V	M	-	1	0	MTMR4	53927561	1.000000	0.71417	0.925000	0.36789	0.915000	0.54546	1.297000	0.33400	0.975000	0.38392	0.454000	0.30748	ATG		0.512	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		C	56572562	T	C	56572562	3	2	333	1	0	0	0	0	1	0	0	0	9948	1435	50	3	662	3	MTMR4	17	56572562	Missense_Mutation	SNP	T	TCGA-BP-4338-01A-01D-1806-10	10915736	56572562	24622648	52	19481											
CCDC47	57003	hgsc.bcm.edu	37	17	61838603	61838603	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr17:61838603A>T	ENST00000225726.5	-	5	1038	c.656T>A	c.(655-657)cTt>cAt	p.L219H	CCDC47_ENST00000582252.1_Missense_Mutation_p.L219H|CCDC47_ENST00000403162.3_Missense_Mutation_p.L219H	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	219					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CAGCTGGATAAGCATGCCCTC	0.453																																																0													263	215	231					17																	61838603		2203	4300	6503	SO:0001583	missense	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.656T>A	17.37:g.61838603A>T	ENSP00000225726:p.Leu219His		B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481691	0.44147	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77670	-0.2501	9	0.15952	T	0.53	-12.0899	14.8505	0.70292	1.0:0.0:0.0:0.0	.	219;219	Q96A33-2;Q96A33	.;CCD47_HUMAN	H	219	.	ENSP00000225726:L219H	L	-	2	0	CCDC47	59192335	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.088000	0.94132	2.163000	0.67991	0.482000	0.46254	CTT		0.453	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		T	61838603	A	T	61838603	3	4	333	1	0	0	0	0	1	0	0	0	2820	72	3	5	831	5	CCDC47	17	61838603	Missense_Mutation	SNP	A	TCGA-BP-4338-01A-01D-1806-10	5266041	61838603	19356607	53	19482											
ANKRD30B	374860	hgsc.bcm.edu	37	18	14851929	14851929	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr18:14851929C>A	ENST00000358984.4	+	36	3809	c.3629C>A	c.(3628-3630)cCt>cAt	p.P1210H		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1210										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GGAGATGCTCCTTTGCAAGGA	0.398																																																0													52	39	43					18																	14851929		692	1590	2282	SO:0001583	missense	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3629C>A	18.37:g.14851929C>A	ENSP00000351875:p.Pro1210His		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.986994	0.00443	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.12984	2.63	1.39	-2.38	0.06622	.	.	.	.	.	T	0.03263	0.0095	N	0.01668	-0.77	0.26383	N	0.976696	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39418	-0.9615	9	0.09084	T	0.74	.	4.0294	0.09701	0.4081:0.191:0.4009:0.0	.	1295;1210	Q9BXX2;F8WAG3	AN30B_HUMAN;.	H	1210;604;630	ENSP00000351875:P1210H	ENSP00000277669:P630H	P	+	2	0	ANKRD30B	14841929	0.010000	0.17322	0.039000	0.18376	0.018000	0.09664	-0.316000	0.08071	-1.417000	0.02017	-3.510000	0.00033	CCT		0.398	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		A	14851929	C	A	14851929	3	1	333	1	0	0	0	0	1	0	0	0	659	681	24	4	3771	4	ANKRD30B	18	14851929	Missense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10		14851929	63225319	54	19483											
PLIN4	729359	hgsc.bcm.edu	37	19	4510615	4510615	+	Silent	SNP	G	G	A	rs140509702	byFrequency	TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr19:4510615G>A	ENST00000301286.3	-	3	3314	c.3315C>T	c.(3313-3315)gaC>gaT	p.D1105D		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1105						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACGTCGCCACGTCAGTCGCAA	0.682													g|||	43	0.00858626	0.0	0.0014	5008	,	,		15852	0.0387		0.0	False		,,,				2504	0.0031															0										0,4328		0,0,2164	25	29	28		3315	-3.1	0	19	dbSNP_134	28	5,8509		0,5,4252	no	coding-synonymous	PLIN4	NM_001080400.1		0,5,6416	AA,AG,GG		0.0587,0.0,0.0389		1105/1358	4510615	5,12837	2164	4257	6421	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3315C>T	19.37:g.4510615G>A			A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.682	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		A	4510615	G	A	4510615	2	1	333	1	0	0	0	0	0	0	0	1	12094	1136	40	1		1	PLIN4	19	4510615	Silent	SNP	G	TCGA-BP-4338-01A-01D-1806-10		4510615	54618368	55	19484											
TNFSF9	8744	hgsc.bcm.edu;ucsc.edu	37	19	6534712	6534712	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr19:6534712G>A	ENST00000245817.3	+	3	438	c.400G>A	c.(400-402)Gtg>Atg	p.V134M		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	134					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						GAAGGAGCTGGTGGTGGCCAA	0.627																																																0													61	62	61					19																	6534712		2188	4297	6485	SO:0001583	missense	8744			U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.400G>A	19.37:g.6534712G>A	ENSP00000245817:p.Val134Met		Q2M3S2	Missense_Mutation	SNP	ENST00000245817.3	37	CCDS12169.1	.	.	.	.	.	.	.	.	.	.	g	8.771	0.926001	0.18056	.	.	ENSG00000125657	ENST00000245817	D	0.95656	-3.77	4.13	1.91	0.25777	Tumour necrosis factor (3);Tumour necrosis factor-like (2);Tumour necrosis factor, conserved site (1);	0.580192	0.14030	N	0.346209	D	0.90628	0.7061	L	0.35723	1.085	0.30330	N	0.786739	P	0.49358	0.923	B	0.40636	0.335	D	0.86901	0.2054	10	0.54805	T	0.06	-25.8663	7.0743	0.25195	0.2355:0.0:0.7645:0.0	.	134	P41273	TNFL9_HUMAN	M	134	ENSP00000245817:V134M	ENSP00000245817:V134M	V	+	1	0	TNFSF9	6485712	1.000000	0.71417	0.994000	0.49952	0.082000	0.17680	0.685000	0.25378	0.866000	0.35629	0.466000	0.42574	GTG		0.627	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		A	6534712	G	A	6534712	3	1	333	1	0	0	0	0	1	0	0	0	16317	1261	44	2	410	2	TNFSF9	19	6534712	Missense_Mutation	SNP	G	TCGA-BP-4338-01A-01D-1806-10	2024097	6534712	52594271	56	19485											
CYP4F11	57834	hgsc.bcm.edu;ucsc.edu	37	19	16038275	16038275	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr19:16038275T>A	ENST00000402119.4	-	3	788	c.362A>T	c.(361-363)gAt>gTt	p.D121V	CYP4F11_ENST00000326742.8_Missense_Mutation_p.D121V|CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000248041.8_Missense_Mutation_p.D121V	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GAAAATCATATCCTTGGGTGC	0.537																																																0													162	159	160					19																	16038275		2203	4300	6503	SO:0001583	missense	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.362A>T	19.37:g.16038275T>A	ENSP00000384588:p.Asp121Val			Missense_Mutation	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	t	13.24	2.177365	0.38413	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.79454	-1.27;-1.27;-0.38	2.61	1.5	0.22942	.	0.000000	0.56097	U	0.000028	D	0.83533	0.5275	M	0.71871	2.18	0.80722	D	1	D;D	0.58970	0.979;0.984	D;D	0.72075	0.947;0.976	T	0.80721	-0.1256	10	0.66056	D	0.02	.	6.7554	0.23510	0.0:0.0:0.241:0.759	.	121;121	F8W978;Q9HBI6	.;CP4FB_HUMAN	V	121	ENSP00000384588:D121V;ENSP00000248041:D121V;ENSP00000319859:D121V	ENSP00000248041:D121V	D	-	2	0	CYP4F11	15899275	0.993000	0.37304	0.004000	0.12327	0.027000	0.11550	3.371000	0.52379	0.199000	0.20427	0.254000	0.18369	GAT		0.537	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		A	16038275	T	A	16038275	3	1	333	1	0	0	0	0	1	0	0	0	4188	1435	50	5	1252	5	CYP4F11	19	16038275	Missense_Mutation	SNP	T	TCGA-BP-4338-01A-01D-1806-10	9503563	16038275	43090708	57	19486											
MYT1	4661	hgsc.bcm.edu	37	20	62863561	62863561	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr20:62863561A>T	ENST00000328439.1	+	19	3084	c.2720A>T	c.(2719-2721)aAa>aTa	p.K907I	MYT1_ENST00000536311.1_Missense_Mutation_p.K934I	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATCAGCGGGAAATACGCCTCT	0.637																																					GBM(59;481 1041 20555 21139 33705)											0													54	56	55					20																	62863561		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2720A>T	20.37:g.62863561A>T	ENSP00000327465:p.Lys907Ile		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314036	0.60414	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.60797	0.21;0.16	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82546	-0.0403	10	0.87932	D	0	-21.2471	14.7002	0.69150	1.0:0.0:0.0:0.0	.	934;907	F5H7M8;Q01538	.;MYT1_HUMAN	I	907;934	ENSP00000327465:K907I;ENSP00000442412:K934I	ENSP00000327465:K907I	K	+	2	0	MYT1	62334005	1.000000	0.71417	0.955000	0.39395	0.553000	0.35397	9.077000	0.94016	1.877000	0.54381	0.460000	0.39030	AAA		0.637	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		T	62863561	A	T	62863561	3	4	333	1	0	0	0	0	1	0	0	0	10108	14	1	5	2786	5	MYT1	20	62863561	Missense_Mutation	SNP	A	TCGA-BP-4338-01A-01D-1806-10		62863561	161959	58	19487											
ZNF295	49854	hgsc.bcm.edu	37	21	43412479	43412479	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr21:43412479C>G	ENST00000310826.5	-	3	1909	c.1726G>C	c.(1726-1728)Gct>Cct	p.A576P	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.A576P|ZBTB21_ENST00000398499.1_Missense_Mutation_p.A576P	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	576					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										ATGTCACAAGCGTAGGGCTTT	0.428																																																0													158	153	155					21																	43412479		2203	4300	6503	SO:0001583	missense	0			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.1726G>C	21.37:g.43412479C>G	ENSP00000308759:p.Ala576Pro		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620131	0.87460	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.15372	2.43;2.43;2.43	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	N	0.16266	0.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.09443	-1.0674	10	0.52906	T	0.07	-12.9037	19.7842	0.96430	0.0:1.0:0.0:0.0	.	576	Q9ULJ3	ZN295_HUMAN	P	576	ENSP00000308759:A576P;ENSP00000381512:A576P;ENSP00000381523:A576P	ENSP00000308759:A576P	A	-	1	0	ZNF295	42285548	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.277000	0.58939	2.676000	0.91093	0.591000	0.81541	GCT		0.428	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		G	43412479	C	G	43412479	3	3	333	1	0	0	0	0	1	0	0	0	17832	768	27	4	1478	4	ZNF295	21	43412479	Missense_Mutation	SNP	C	TCGA-BP-4338-01A-01D-1806-10		43412479	4717416	59	19488											
CELSR1	9620	hgsc.bcm.edu;ucsc.edu	37	22	46793633	46793633	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chr22:46793633G>A	ENST00000262738.3	-	12	5638	c.5639C>T	c.(5638-5640)cCc>cTc	p.P1880L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1880	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGGGGACAGGGGCTCGAGGT	0.652																																																0													77	50	59					22																	46793633		2200	4300	6500	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5639C>T	22.37:g.46793633G>A	ENSP00000262738:p.Pro1880Leu		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622139	0.28889	.	.	ENSG00000075275	ENST00000262738	T	0.54279	0.58	4.39	4.39	0.52855	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.270105	0.29328	U	0.012467	T	0.59959	0.2232	M	0.84511	2.7	0.80722	D	1	P;B	0.36027	0.533;0.117	B;B	0.36418	0.224;0.046	T	0.68131	-0.5490	10	0.49607	T	0.09	.	16.9223	0.86167	0.0:0.0:1.0:0.0	.	201;1880	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	L	1880	ENSP00000262738:P1880L	ENSP00000262738:P1880L	P	-	2	0	CELSR1	45172297	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	2.585000	0.46111	2.173000	0.68751	0.561000	0.74099	CCC		0.652	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		A	46793633	G	A	46793633	3	1	333	1	0	0	0	0	1	0	0	0	3223	1232	43	2	3501	2	CELSR1	22	46793633	Missense_Mutation	SNP	G	TCGA-BP-4338-01A-01D-1806-10		46793633	4510933	60	19489											
SPANXD	64648	hgsc.bcm.edu	37	X	140785696	140785696	+	Missense_Mutation	SNP	T	T	C	rs2983592		TCGA-BP-4338-01A-01D-1806-10	TCGA-BP-4338-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	88266e1d-89b9-41e6-b662-08d144ab0f46	74c2011d-6135-4074-a0de-fedf3b6caa64	g.chrX:140785696T>C	ENST00000370515.3	-	2	553	c.220A>G	c.(220-222)Aag>Gag	p.K74E		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	74						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					ATTCTGTTCTTTCGGGCGTGG	0.438																																																0													214	187	196					X																	140785696		2199	4270	6469	SO:0001583	missense	64648			AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 4"	300670, 300671	"SPANX family, member E"	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.220A>G	X.37:g.140785696T>C	ENSP00000359546:p.Lys74Glu		Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.710851	0.00094	.	.	ENSG00000196406	ENST00000370515	T	0.03889	3.77	.	.	.	.	.	.	.	.	T	0.01387	0.0045	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42515	-0.9447	5	0.02654	T	1	.	.	.	.	rs2983592;rs5954409;rs17855379;rs17855768	74	Q9BXN6	SPNXD_HUMAN	E	74	ENSP00000359546:K74E	ENSP00000359546:K74E	K	-	1	0	SPANXD	140613362	0.011000	0.17503	0.004000	0.12327	0.004000	0.04260	-2.049000	0.01405	-2.041000	0.00915	-2.024000	0.00429	AAG		0.438	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			C	140785696	T	C	140785696	3	2	333	1	0	0	0	0	1	0	0	0	14994	1850	64	3	77	3	SPANXD	23	140785696	Missense_Mutation	SNP	T	TCGA-BP-4338-01A-01D-1806-10		140785696	14484864	61	19490											
VHL	7428	hgsc.bcm.edu	37	3	10183850	10183850	+	Missense_Mutation	SNP	C	C	G	rs397516440		TCGA-BP-4340-01A-01W-1362-10	TCGA-BP-4340-11A-01W-1362-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	d171d7fb-084e-4402-bada-d4318793eb71	0c9518f3-0d78-44e3-a5af-cbcc8a2d53bb	g.chr3:10183850C>G	ENST00000256474.2	+	1	1159	c.319C>G	c.(319-321)Cgc>Ggc	p.R107G	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.R107G	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	107	Involved in binding to CCT complex.		R -> G (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|R -> P (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G104fs*23(2)|p.G106fs*51(1)|p.R107fs*58(1)|p.G104fs*22(1)|p.G104fs*52(1)|p.G106fs*49(1)|p.R107fs*52(1)|p.R108fs*52(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGGCACGGGCCGCCGCATCCA	0.687		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Deletion - Frameshift(7)|Insertion - Frameshift(2)	kidney(9)	GRCh37	CM020979	VHL	M							11	12	12					3																	10183850		1656	3559	5215	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.319C>G	3.37:g.10183850C>G	ENSP00000256474:p.Arg107Gly		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770918	0.90108	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99830	-7.01;-7.01	5.17	4.29	0.51040	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.118683	0.64402	D	0.000014	D	0.99635	0.9866	M	0.61703	1.905	0.31621	N	0.650253	D;D	0.76494	0.993;0.999	D;D	0.71184	0.927;0.972	D	0.99632	1.0986	10	0.26408	T	0.33	-15.5698	12.9302	0.58282	0.1633:0.8367:0.0:0.0	.	107;107	P40337-2;P40337	.;VHL_HUMAN	G	107	ENSP00000256474:R107G;ENSP00000344757:R107G	ENSP00000256474:R107G	R	+	1	0	VHL	10158850	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.135000	0.50546	1.173000	0.42796	0.479000	0.44913	CGC		0.687	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183850	C	G	10183850	3	3	334	1	0	0	0	0	1	0	0	0	17167	652	23	4	321	4	VHL	3	10183850	Missense_Mutation	SNP	C	TCGA-BP-4340-01A-01W-1362-10		10183850	187838580	1	19491											
ZBTB48	3104	hgsc.bcm.edu	37	1	6640756	6640756	+	Silent	SNP	T	T	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:6640756T>A	ENST00000377674.4	+	2	245	c.87T>A	c.(85-87)acT>acA	p.T29T		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	29	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GCGACGCCACTCTGGACGTGG	0.617																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)											0													77	75	76					1																	6640756		2203	4300	6503	SO:0001819	synonymous_variant	3104			BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4930	protein-coding gene	gene with protein product		165270	"GLI-Kruppel family member HKR3"	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.87T>A	1.37:g.6640756T>A			Q5SY19	Silent	SNP	ENST00000377674.4	37	CCDS84.1																																																																																				0.617	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		A	6640756	T	A	6640756	2	1	335	1	0	0	0	0	0	0	0	1	17554	1538	54	5		5	ZBTB48	1	6640756	Silent	SNP	T	TCGA-BP-4341-01A-01D-1366-10		6640756	242609865	1	19492											
CAMTA1	23261	hgsc.bcm.edu;ucsc.edu	37	1	7737703	7737703	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:7737703C>A	ENST00000303635.7	+	11	3031	c.2824C>A	c.(2824-2826)Cag>Aag	p.Q942K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q942K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	942	IPT/TIG.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTTCAACAACCAGATCATCTC	0.552			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													191	169	176					1																	7737703		2203	4300	6503	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2824C>A	1.37:g.7737703C>A	ENSP00000306522:p.Gln942Lys		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	18.50	3.638143	0.67130	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738	T;T	0.78364	-1.17;-1.17	5.19	5.19	0.71726	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	N	0.10809	0.05	0.80722	D	1	P;D	0.58620	0.845;0.983	P;P	0.60415	0.545;0.874	T	0.73004	-0.4119	10	0.18710	T	0.47	-16.9929	18.7694	0.91885	0.0:1.0:0.0:0.0	.	942;942	Q9Y6Y1-2;Q9Y6Y1	.;CMTA1_HUMAN	K	942;942;29	ENSP00000306522:Q942K;ENSP00000402561:Q942K	ENSP00000306522:Q942K	Q	+	1	0	CAMTA1	7660290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.441000	0.82636	0.555000	0.69702	CAG		0.552	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		A	7737703	C	A	7737703	3	1	335	1	0	0	0	0	1	0	0	0	2615	595	21	4	2866	4	CAMTA1	1	7737703	Missense_Mutation	SNP	C	TCGA-BP-4341-01A-01D-1366-10	1096947	7737703	241512918	2	19493											
HTR6	3362	hgsc.bcm.edu	37	1	20005532	20005532	+	Missense_Mutation	SNP	G	G	C	rs549783007		TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:20005532G>C	ENST00000289753.1	+	3	1461	c.994G>C	c.(994-996)Ggc>Cgc	p.G332R		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	332					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GCGGGCGCTGGGCAGGTTCCT	0.652																																					Esophageal Squamous(168;1879 2619 6848 21062)											0													51	58	55					1																	20005532		2203	4300	6503	SO:0001583	missense	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.994G>C	1.37:g.20005532G>C	ENSP00000289753:p.Gly332Arg		Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372660	0.24857	.	.	ENSG00000158748	ENST00000289753	T	0.33216	1.42	5.39	3.52	0.40303	.	0.272268	0.34507	N	0.003910	T	0.18341	0.0440	L	0.27053	0.805	0.27817	N	0.941949	B	0.31485	0.325	B	0.21917	0.037	T	0.10019	-1.0648	9	.	.	.	.	11.1857	0.48655	0.1515:0.0:0.8485:0.0	.	332	P50406	5HT6R_HUMAN	R	332	ENSP00000289753:G332R	.	G	+	1	0	HTR6	19878119	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.168000	0.50801	0.774000	0.33427	-0.258000	0.10820	GGC		0.652	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		C	20005532	G	C	20005532	3	2	335	1	0	0	0	0	1	0	0	0	7453	1232	43	4	1004	4	HTR6	1	20005532	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	12267829	20005532	229245089	3	19494											
RBM15	64783	hgsc.bcm.edu	37	1	110883715	110883715	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:110883715G>A	ENST00000369784.3	+	1	2588	c.1688G>A	c.(1687-1689)gGt>gAt	p.G563D	RBM15_ENST00000487146.2_Missense_Mutation_p.G563D|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.G563D	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	563					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G563R(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTTTGAGGGGTGCTCGGGAT	0.547			T	MKL1	acute megakaryocytic leukemia																																		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	1	Substitution - Missense(1)	ovary(1)											56	50	52					1																	110883715		2203	4300	6503	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1688G>A	1.37:g.110883715G>A	ENSP00000358799:p.Gly563Asp		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352160	0.41700	.	.	ENSG00000162775	ENST00000369784	T	0.19105	2.17	4.44	3.53	0.40419	.	0.316936	0.22740	N	0.056207	T	0.06050	0.0157	L	0.36672	1.1	0.34883	D	0.744738	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18272	-1.0342	10	0.12766	T	0.61	-1.7109	12.1937	0.54284	0.0827:0.0:0.9173:0.0	.	563;563	Q96T37-3;Q96T37	.;RBM15_HUMAN	D	563	ENSP00000358799:G563D	ENSP00000358799:G563D	G	+	2	0	RBM15	110685238	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.323000	0.52014	1.092000	0.41356	0.655000	0.94253	GGT		0.547	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		A	110883715	G	A	110883715	3	1	335	1	0	0	0	0	1	0	0	0	13122	1261	44	2	1690	2	RBM15	1	110883715	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	90878183	110883715	138366906	4	19495											
TCHHL1	126637	hgsc.bcm.edu;ucsc.edu	37	1	152058664	152058664	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:152058664T>G	ENST00000368806.1	-	3	1558	c.1494A>C	c.(1492-1494)agA>agC	p.R498S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	498							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AATCTTGTGTTCTTTCTCTTG	0.488																																																0													244	207	219					1																	152058664		2203	4300	6503	SO:0001583	missense	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1494A>C	1.37:g.152058664T>G	ENSP00000357796:p.Arg498Ser		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	10.74	1.434360	0.25813	.	.	ENSG00000182898	ENST00000368806	T	0.55588	0.51	5.59	-4.3	0.03710	.	0.161351	0.29314	N	0.012504	T	0.09335	0.0230	N	0.15975	0.35	0.09310	N	1	B	0.12013	0.005	B	0.18263	0.021	T	0.35895	-0.9770	10	0.15499	T	0.54	-6.6796	6.5482	0.22418	0.0:0.3931:0.2477:0.3592	.	498	Q5QJ38	TCHL1_HUMAN	S	498	ENSP00000357796:R498S	ENSP00000357796:R498S	R	-	3	2	TCHHL1	150325288	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.886000	0.04157	-0.577000	0.05967	-2.651000	0.00149	AGA		0.488	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		G	152058664	T	G	152058664	3	3	335	1	0	0	0	0	1	0	0	0	15706	1780	62	5	1224	5	TCHHL1	1	152058664	Missense_Mutation	SNP	T	TCGA-BP-4341-01A-01D-1366-10	41174949	152058664	97191957	5	19496											
GON4L	54856	hgsc.bcm.edu;ucsc.edu	37	1	155774833	155774833	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:155774833T>A	ENST00000368331.1	-	11	1600	c.1552A>T	c.(1552-1554)Atc>Ttc	p.I518F	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.I518F|GON4L_ENST00000271883.5_Missense_Mutation_p.I518F|GON4L_ENST00000361040.5_Missense_Mutation_p.I518F	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	518	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTGGAGTGATGTCTGGAGCT	0.498																																																0													158	146	150					1																	155774833		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1552A>T	1.37:g.155774833T>A	ENSP00000357315:p.Ile518Phe		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	T	27.1	4.797656	0.90538	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.17370	2.44;2.44;2.44;2.28	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	L	0.54323	1.7	0.51233	D	0.999913	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.943;0.996;0.972;0.999;0.941;0.973	T	0.01715	-1.1289	10	0.54805	T	0.06	.	14.4027	0.67060	0.0:0.0:0.0:1.0	.	298;212;518;518;518;518	Q6PHZ4;Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;.;GON4L_HUMAN;.	F	518	ENSP00000396117:I518F;ENSP00000357315:I518F;ENSP00000271883:I518F;ENSP00000354322:I518F	ENSP00000271883:I518F	I	-	1	0	GON4L	154041457	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.585000	0.82584	2.075000	0.62263	0.383000	0.25322	ATC		0.498	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		A	155774833	T	A	155774833	3	1	335	1	0	0	0	0	1	0	0	0	6574	1464	51	5	5375	5	GON4L	1	155774833	Missense_Mutation	SNP	T	TCGA-BP-4341-01A-01D-1366-10	3716169	155774833	93475788	6	19497											
DTNB	1838	hgsc.bcm.edu;ucsc.edu	37	2	25754365	25754365	+	Silent	SNP	T	T	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr2:25754365T>C	ENST00000406818.3	-	9	1227	c.978A>G	c.(976-978)aaA>aaG	p.K326K	DTNB_ENST00000288642.8_Silent_p.K326K|DTNB_ENST00000404103.3_Silent_p.K326K|DTNB_ENST00000545439.1_Silent_p.K122K|DTNB_ENST00000496972.2_Silent_p.K269K|DTNB_ENST00000405222.1_Silent_p.K326K|DTNB_ENST00000407186.1_Silent_p.K326K|DTNB_ENST00000407038.3_Silent_p.K326K|DTNB_ENST00000407661.3_Silent_p.K326K	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	326						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCAAGTGGTTTCTCTGGTT	0.473																																																0													158	155	156					2																	25754365		1880	4100	5980	SO:0001819	synonymous_variant	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.978A>G	2.37:g.25754365T>C			B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	CCDS46237.1																																																																																				0.473	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		C	25754365	T	C	25754365	2	2	335	1	0	0	0	0	0	0	0	1	4791	1722	60	3		3	DTNB	2	25754365	Silent	SNP	T	TCGA-BP-4341-01A-01D-1366-10		25754365	217445008	7	19498											
ZNF385B	151126	hgsc.bcm.edu;ucsc.edu	37	2	180383279	180383279	+	Silent	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr2:180383279G>A	ENST00000410066.1	-	5	1086	c.483C>T	c.(481-483)gtC>gtT	p.V161V	ZNF385B_ENST00000409343.1_Silent_p.V85V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Silent_p.V59V|ZNF385B_ENST00000409692.1_Silent_p.V59V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	161	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GAAGCTGACAGACATTACAAG	0.358																																					Colon(155;204 2491 32774 51842)											0													113	115	115					2																	180383279		2203	4300	6503	SO:0001819	synonymous_variant	151126			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.483C>T	2.37:g.180383279G>A			Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	CCDS33339.1																																																																																				0.358	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		A	180383279	G	A	180383279	2	1	335	1	0	0	0	0	0	0	0	1	17882	929	33	2		2	ZNF385B	2	180383279	Silent	SNP	G	TCGA-BP-4341-01A-01D-1366-10	154628914	180383279	62816094	8	19499											
OBSL1	23363	hgsc.bcm.edu	37	2	220421377	220421377	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr2:220421377A>G	ENST00000404537.1	-	13	4191	c.4135T>C	c.(4135-4137)Ttc>Ctc	p.F1379L	OBSL1_ENST00000373876.1_Missense_Mutation_p.F1287L|OBSL1_ENST00000603926.1_Missense_Mutation_p.F1379L|OBSL1_ENST00000265318.4_Missense_Mutation_p.F1287L|OBSL1_ENST00000265317.5_Missense_Mutation_p.F278L|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1379	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.F1379V(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCACACCGGAACGTGGCATCA	0.627																																																1	Substitution - Missense(1)	ovary(1)											51	56	54					2																	220421377		2171	4256	6427	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4135T>C	2.37:g.220421377A>G	ENSP00000385636:p.Phe1379Leu		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	A	2.352	-0.348715	0.05208	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317	T;T;T;T	0.65549	4.32;-0.16;-0.16;-0.16	4.16	4.16	0.48862	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63593	0.2524	L	0.31664	0.95	0.34133	D	0.665522	P;P;D;B	0.65815	0.565;0.747;0.995;0.11	P;P;D;B	0.83275	0.555;0.866;0.996;0.101	T	0.61158	-0.7119	9	0.02654	T	1	.	13.4259	0.61026	1.0:0.0:0.0:0.0	.	186;1380;1379;278	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	L	1287;1379;1287;278	ENSP00000265318:F1287L;ENSP00000385636:F1379L;ENSP00000362983:F1287L;ENSP00000265317:F278L	ENSP00000265317:F278L	F	-	1	0	OBSL1	220129621	0.999000	0.42202	0.871000	0.34182	0.175000	0.22909	4.111000	0.57838	1.766000	0.52107	0.254000	0.18369	TTC		0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			G	220421377	A	G	220421377	3	3	335	1	0	0	0	0	1	0	0	0	10815	43	2	3	1614	3	OBSL1	2	220421377	Missense_Mutation	SNP	A	TCGA-BP-4341-01A-01D-1366-10	40038098	220421377	22777996	9	19500											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188289	10188289	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr3:10188289delA	ENST00000256474.2	+	2	1272	c.432delA	c.(430-432)ggafs	p.G144fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	144	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q145fs*12(1)|p.G144fs*14(1)|p.S139fs*12(1)|p.G144fs*19(1)|p.Q145fs*14(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATGTTGACGGACAGCCTATTT	0.418		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	5	Deletion - Frameshift(5)	kidney(5)											218	201	206					3																	10188289		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.432delA	3.37:g.10188289delA	ENSP00000256474:p.Gly144fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.418	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188289	A	-	10188289	7	5	335	1	0	1	0	1	0	0	0	0	17167	262	10	0	438	0	VHL	3	10188289	Frame_Shift_Del	DEL	A	TCGA-BP-4341-01A-01D-1366-10		10188289	187834141	10	19501											
DOCK3	1795	hgsc.bcm.edu;ucsc.edu	37	3	51284171	51284171	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr3:51284171G>C	ENST00000266037.9	+	22	2140	c.2117G>C	c.(2116-2118)tGt>tCt	p.C706S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	706					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTCATCCGCTGTTTGAAGTGG	0.438																																																0													111	99	103					3																	51284171		1867	4117	5984	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2117G>C	3.37:g.51284171G>C	ENSP00000266037:p.Cys706Ser		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869738	0.51588	.	.	ENSG00000088538	ENST00000266037	T	0.16897	2.31	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	L	0.28504	0.86	0.80722	D	1	B	0.33212	0.402	B	0.26864	0.074	T	0.09640	-1.0665	10	0.18276	T	0.48	.	20.2476	0.98400	0.0:0.0:1.0:0.0	.	706	Q8IZD9	DOCK3_HUMAN	S	706	ENSP00000266037:C706S	ENSP00000266037:C706S	C	+	2	0	DOCK3	51259211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.428000	0.97476	2.890000	0.99128	0.586000	0.80456	TGT		0.438	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		C	51284171	G	C	51284171	3	2	335	1	0	0	0	0	1	0	0	0	4690	1377	48	4	2203	4	DOCK3	3	51284171	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	41095882	51284171	146738259	11	19502											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52621464	52621464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr3:52621464G>A	ENST00000296302.7	-	19	3029	c.3028C>T	c.(3028-3030)Cga>Tga	p.R1010*	PBRM1_ENST00000410007.1_Intron|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1025*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1010*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R978*|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1010*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1025*			Q86U86	PB1_HUMAN	polybromo 1	1010	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1010*(4)|p.R978*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGAAATTTTCGTGTAGCCAGG	0.398			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											71	72	71					3																	52621464		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3028C>T	3.37:g.52621464G>A	ENSP00000296302:p.Arg1010*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	39	7.356284	0.98231	.	.	ENSG00000163939	ENST00000356770;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0857	0.72151	0.0:0.0:0.668:0.332	.	.	.	.	X	978;1010;1010;1010;1025;1025;1009;968	.	ENSP00000296302:R1010X	R	-	1	2	PBRM1	52596504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.097000	0.50251	1.458000	0.47871	0.655000	0.94253	CGA		0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52621464	G	A	52621464	4	1	335	1	0	0	0	0	0	1	0	0	11493	1153	40	1	1920	1	PBRM1	3	52621464	Nonsense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	1337293	52621464	145400966	12	19503											
TNFSF10	8743	hgsc.bcm.edu;ucsc.edu	37	3	172232773	172232773	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr3:172232773A>T	ENST00000241261.2	-	2	270	c.148T>A	c.(148-150)Tcc>Acc	p.S50T	TNFSF10_ENST00000420541.2_Missense_Mutation_p.S50T	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	50					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCACTTTTGGAGTACTTGTCC	0.393																																																0													135	134	134					3																	172232773		2203	4300	6503	SO:0001583	missense	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.148T>A	3.37:g.172232773A>T	ENSP00000241261:p.Ser50Thr		A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	A	8.457	0.854412	0.17106	.	.	ENSG00000121858	ENST00000241261;ENST00000420541	T;T	0.35236	1.32;1.32	5.61	1.53	0.23141	.	0.451849	0.27531	N	0.018943	T	0.26919	0.0659	L	0.57536	1.79	0.29675	N	0.842138	B;B	0.33637	0.42;0.144	B;B	0.25506	0.061;0.03	T	0.14420	-1.0473	10	0.26408	T	0.33	-0.4466	8.3738	0.32432	0.4835:0.3906:0.0:0.1259	.	50;50	A1Y9B3;P50591	.;TNF10_HUMAN	T	50	ENSP00000241261:S50T;ENSP00000389931:S50T	ENSP00000241261:S50T	S	-	1	0	TNFSF10	173715467	1.000000	0.71417	0.479000	0.27329	0.265000	0.26407	3.010000	0.49559	0.365000	0.24400	-0.336000	0.08194	TCC		0.393	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			T	172232773	A	T	172232773	3	4	335	1	0	0	0	0	1	0	0	0	16306	304	11	5	713	5	TNFSF10	3	172232773	Missense_Mutation	SNP	A	TCGA-BP-4341-01A-01D-1366-10	119611309	172232773	25789657	13	19504											
POLR2B	5431	hgsc.bcm.edu;ucsc.edu	37	4	57873145	57873145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr4:57873145C>T	ENST00000381227.1	+	11	1794	c.1381C>T	c.(1381-1383)Caa>Taa	p.Q461*	POLR2B_ENST00000441246.2_Nonsense_Mutation_p.Q454*|POLR2B_ENST00000431623.2_Nonsense_Mutation_p.Q386*|POLR2B_ENST00000314595.5_Nonsense_Mutation_p.Q461*			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	461					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GAAAGCTCATCAAGCCAGAGC	0.388																																																0													72	77	75					4																	57873145		2203	4300	6503	SO:0001587	stop_gained	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1381C>T	4.37:g.57873145C>T	ENSP00000370625:p.Gln461*		A8K1A8|Q8IZ61	Nonsense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	41	8.984456	0.99025	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	19.098	0.93260	0.0:1.0:0.0:0.0	.	.	.	.	X	461;386;454;461	.	ENSP00000312735:Q461X	Q	+	1	0	POLR2B	57567902	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.658000	0.83755	2.600000	0.87896	0.655000	0.94253	CAA		0.388	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		T	57873145	C	T	57873145	4	4	335	1	0	0	0	0	0	1	0	0	12217	827	29	2	1419	2	POLR2B	4	57873145	Nonsense_Mutation	SNP	C	TCGA-BP-4341-01A-01D-1366-10		57873145	133281131	14	19505											
PALLD	23022	hgsc.bcm.edu	37	4	169842820	169842820	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr4:169842820G>A	ENST00000505667.1	+	18	3159	c.2986G>A	c.(2986-2988)Gcc>Acc	p.A996T	PALLD_ENST00000507735.1_Missense_Mutation_p.A492T|PALLD_ENST00000261509.6_Missense_Mutation_p.A979T|PALLD_ENST00000512127.1_Missense_Mutation_p.A597T|PALLD_ENST00000335742.7_Missense_Mutation_p.A821T|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1203					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTCACGTGATGCCGGCATCTA	0.537									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)											0													113	88	96					4																	169842820		2203	4300	6503	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2986G>A	4.37:g.169842820G>A	ENSP00000425556:p.Ala996Thr		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.439203|4.439203	0.83885|0.83885	.|.	.|.	ENSG00000129116|ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735|ENST00000503290	T;T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3;-0.3|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.31897|.	U|.	0.006890|.	T|T	0.65801|0.65801	0.2726|0.2726	L|L	0.37850|0.37850	1.14|1.14	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.989;0.998;1.0|.	D;P;D;D|.	0.75484|.	0.986;0.904;0.963;0.986|.	T|T	0.60757|0.60757	-0.7200|-0.7200	10|5	0.33940|.	T|.	0.23|.	.|.	19.2994|19.2994	0.94138|0.94138	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	996;1203;597;979|.	B7ZMM5;Q8WX93;B3KTG2;B2RTX2|.	.;PALLD_HUMAN;.;.|.	T|Y	979;821;996;597;492|32	ENSP00000261509:A979T;ENSP00000336735:A821T;ENSP00000425556:A996T;ENSP00000426947:A597T;ENSP00000424016:A492T|.	ENSP00000261509:A979T|.	A|C	+|+	1|2	0|0	PALLD|PALLD	170079395|170079395	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.069000|0.069000	0.16628|0.16628	7.960000|7.960000	0.87893|0.87893	2.566000|2.566000	0.86566|0.86566	0.555000|0.555000	0.69702|0.69702	GCC|TGC		0.537	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		A	169842820	G	A	169842820	3	1	335	1	0	0	0	0	1	0	0	0	11409	1319	46	2	3559	2	PALLD	4	169842820	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	111969675	169842820	21311456	15	19506											
PDGFRB	5159	hgsc.bcm.edu	37	5	149506122	149506122	+	Silent	SNP	G	G	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr5:149506122G>C	ENST00000261799.4	-	11	2104	c.1635C>G	c.(1633-1635)acC>acG	p.T545T		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	545					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGAGATGATGGTGAGCACCA	0.532			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0													128	98	108					5																	149506122		2203	4300	6503	SO:0001819	synonymous_variant	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1635C>G	5.37:g.149506122G>C			B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																				0.532	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		C	149506122	G	C	149506122	2	2	335	1	0	0	0	0	0	0	0	1	11664	1335	47	4		4	PDGFRB	5	149506122	Silent	SNP	G	TCGA-BP-4341-01A-01D-1366-10		149506122	31409138	16	19507											
C6orf146	222826	hgsc.bcm.edu;ucsc.edu	37	6	4069285	4069285	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:4069285G>A	ENST00000274673.3	-	7	1575	c.1172C>T	c.(1171-1173)aCc>aTc	p.T391I	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	391																	TTGTTTTGGGGTGGAAGAACT	0.353																																																0													111	119	116					6																	4069285		2203	4300	6503	SO:0001583	missense	0			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.1172C>T	6.37:g.4069285G>A	ENSP00000274673:p.Thr391Ile		Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	G	7.985	0.752004	0.15778	.	.	ENSG00000145975	ENST00000274673;ENST00000538080;ENST00000470599	T	0.24350	1.86	5.16	2.3	0.28687	.	0.740854	0.12230	N	0.487511	T	0.23886	0.0578	M	0.62723	1.935	0.09310	N	1	P	0.52061	0.95	P	0.53006	0.715	T	0.07177	-1.0786	10	0.72032	D	0.01	-9.1989	12.9771	0.58544	0.0:0.4802:0.5198:0.0	.	391	Q8IXS0	CF146_HUMAN	I	391;238;519	ENSP00000274673:T391I	ENSP00000274673:T391I	T	-	2	0	C6orf146	4014284	0.293000	0.24371	0.001000	0.08648	0.007000	0.05969	3.581000	0.53914	0.289000	0.22422	-0.312000	0.09012	ACC		0.353	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		A	4069285	G	A	4069285	3	1	335	1	0	0	0	0	1	0	0	0	2337	1261	44	2	358	2	C6orf146	6	4069285	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10		4069285	167045782	17	19508											
KLC4	89953	hgsc.bcm.edu;ucsc.edu	37	6	43042370	43042370	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:43042370G>A	ENST00000394056.2	+	17	2315	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D	PTK7_ENST00000349241.2_5'Flank|PTK7_ENST00000230419.4_5'Flank|PTK7_ENST00000476760.1_5'Flank|KLC4_ENST00000259708.3_Missense_Mutation_p.G625D|PTK7_ENST00000481273.1_5'Flank|PTK7_ENST00000345201.2_5'Flank|KLC4_ENST00000453940.2_Missense_Mutation_p.G530D|KLC4_ENST00000479388.1_Missense_Mutation_p.G607D|PTK7_ENST00000471863.1_5'Flank|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000347162.5_Missense_Mutation_p.G607D|PTK7_ENST00000352931.2_5'Flank|KLC4_ENST00000394058.1_Missense_Mutation_p.G607D			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	607						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GTCTCCCGGGGCCTCAGTGCC	0.612																																																0													121	106	111					6																	43042370		2203	4300	6503	SO:0001583	missense	89953			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1820G>A	6.37:g.43042370G>A	ENSP00000377620:p.Gly607Asp		B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740081	0.69304	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.79247	-1.23;-1.25;-1.24;-1.23;-1.23;-1.23	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000011	D	0.83454	0.5258	L	0.59436	1.845	0.58432	D	0.999995	B;D;D	0.89917	0.005;1.0;1.0	B;D;D	0.91635	0.008;0.999;0.992	D	0.84458	0.0592	10	0.59425	D	0.04	-25.0516	16.1531	0.81636	0.0:0.0:1.0:0.0	.	530;625;607	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	D	607;530;625;607;607;607	ENSP00000340221:G607D;ENSP00000395806:G530D;ENSP00000259708:G625D;ENSP00000418031:G607D;ENSP00000377620:G607D;ENSP00000377622:G607D	ENSP00000259708:G625D	G	+	2	0	KLC4	43150348	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.834000	0.86773	2.549000	0.85964	0.462000	0.41574	GGC		0.612	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		A	43042370	G	A	43042370	3	1	335	1	0	0	0	0	1	0	0	0	8338	1203	42	2	2005	2	KLC4	6	43042370	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	38973085	43042370	128072697	18	19509											
GRIK2	2898	hgsc.bcm.edu;ucsc.edu	37	6	102483373	102483373	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:102483373G>A	ENST00000421544.1	+	14	2733	c.2243G>A	c.(2242-2244)cGg>cAg	p.R748Q	GRIK2_ENST00000369137.3_Missense_Mutation_p.R672Q|GRIK2_ENST00000318991.6_Missense_Mutation_p.R748Q|GRIK2_ENST00000413795.1_Missense_Mutation_p.R748Q|GRIK2_ENST00000369138.1_Missense_Mutation_p.R748Q|GRIK2_ENST00000369134.4_Missense_Mutation_p.R699Q	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	748					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTTACCCAGCGGAACTGTAAC	0.453																																																0													175	177	176					6																	102483373		2203	4300	6503	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2243G>A	6.37:g.102483373G>A	ENSP00000397026:p.Arg748Gln		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	36	5.666182	0.96745	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85	5.46	5.46	0.80206	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	N	0.21545	0.675	0.49130	D	0.999756	D;D;D	0.58970	0.98;0.984;0.98	B;P;B	0.45913	0.364;0.497;0.364	T	0.13818	-1.0495	10	0.87932	D	0	.	19.301	0.94144	0.0:0.0:1.0:0.0	.	748;748;748	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	Q	748;748;748;672;748;699;523	ENSP00000397026:R748Q;ENSP00000405596:R748Q;ENSP00000358134:R748Q;ENSP00000358133:R672Q;ENSP00000313276:R748Q;ENSP00000358130:R699Q	ENSP00000313276:R748Q	R	+	2	0	GRIK2	102590066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.555000	0.86185	0.655000	0.94253	CGG		0.453	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			A	102483373	G	A	102483373	3	1	335	1	0	0	0	0	1	0	0	0	6776	1116	39	1	2297	1	GRIK2	6	102483373	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	59441003	102483373	68631694	19	19510											
RTN4IP1	84816	hgsc.bcm.edu;ucsc.edu	37	6	107069326	107069326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:107069326C>A	ENST00000369063.3	-	3	934	c.469G>T	c.(469-471)Gag>Tag	p.E157*	RTN4IP1_ENST00000539449.1_Nonsense_Mutation_p.E157*	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	157						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ACAACAAACTCTGAAAGAGTG	0.408																																																0													108	110	109					6																	107069326		2203	4300	6503	SO:0001587	stop_gained	84816			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.469G>T	6.37:g.107069326C>A	ENSP00000358059:p.Glu157*		Q8N9B3|Q8WZ66|Q9BRA4	Nonsense_Mutation	SNP	ENST00000369063.3	37	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	C	42	9.621552	0.99221	.	.	ENSG00000130347	ENST00000539449;ENST00000369063	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-37.0087	19.4436	0.94836	0.0:1.0:0.0:0.0	.	.	.	.	X	157	.	ENSP00000358059:E157X	E	-	1	0	RTN4IP1	107176019	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.877000	0.75562	2.894000	0.99253	0.591000	0.81541	GAG		0.408	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			A	107069326	C	A	107069326	4	1	335	1	0	0	0	0	0	1	0	0	13735	922	32	4	749	4	RTN4IP1	6	107069326	Nonsense_Mutation	SNP	C	TCGA-BP-4341-01A-01D-1366-10	4585953	107069326	64045741	20	19511											
MAP3K5	4217	hgsc.bcm.edu	37	6	137112970	137112970	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:137112970T>A	ENST00000359015.4	-	1	686	c.326A>T	c.(325-327)gAg>gTg	p.E109V		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	109					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGCCTCGCTCTCGGCCACCAC	0.652																																																0													58	59	59					6																	137112970		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.326A>T	6.37:g.137112970T>A	ENSP00000351908:p.Glu109Val		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742222	0.89573	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.73469	-0.75	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.81211	0.4775	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.84266	0.0486	10	0.87932	D	0	.	14.5734	0.68229	0.0:0.0:0.0:1.0	.	109	Q99683	M3K5_HUMAN	V	109;189	ENSP00000351908:E109V	ENSP00000351908:E109V	E	-	2	0	MAP3K5	137154663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.428000	0.66489	1.963000	0.57068	0.533000	0.62120	GAG		0.652	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			A	137112970	T	A	137112970	3	1	335	1	0	0	0	0	1	0	0	0	9255	1551	54	5	3918	5	MAP3K5	6	137112970	Missense_Mutation	SNP	T	TCGA-BP-4341-01A-01D-1366-10	30043644	137112970	34002097	21	19512											
SYNE1	23345	hgsc.bcm.edu	37	6	152461141	152461141	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:152461141G>T	ENST00000367255.5	-	140	26003	c.25402C>A	c.(25402-25404)Cgt>Agt	p.R8468S	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992S|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468S|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420S|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.R646S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTTCCAGACGCTGGAGCTGT	0.557										HNSCC(10;0.0054)																																						0													121	99	106					6																	152461141		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25402C>A	6.37:g.152461141G>T	ENSP00000356224:p.Arg8468Ser		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	1.431	-0.570317	0.03910	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.92	5.04	0.67666	.	0.227351	0.31156	N	0.008147	T	0.22166	0.0534	L	0.46157	1.445	0.09310	N	1	P;P;B;P;B	0.34815	0.47;0.47;0.415;0.47;0.008	B;B;B;B;B	0.42112	0.376;0.376;0.259;0.376;0.03	T	0.15983	-1.0418	10	0.19147	T	0.46	.	10.5768	0.45231	0.0683:0.0:0.7974:0.1342	.	8468;8468;8420;8420;670	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	S	8468;623;1114;8420;8468;8420;8080;2992;653;648;1413;646	ENSP00000356224:R8468S;ENSP00000441052:R623S;ENSP00000356226:R1114S;ENSP00000396024:R8420S;ENSP00000265368:R8468S;ENSP00000390975:R8420S;ENSP00000341887:R8080S;ENSP00000349276:R2992S;ENSP00000356220:R1413S;ENSP00000346701:R646S	ENSP00000265368:R8468S	R	-	1	0	SYNE1	152502834	0.000000	0.05858	0.037000	0.18230	0.206000	0.24218	0.727000	0.25999	1.465000	0.48006	0.561000	0.74099	CGT		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152461141	G	T	152461141	3	4	335	1	0	0	0	0	1	0	0	0	15450	1087	38	4	1019	4	SYNE1	6	152461141	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	15348171	152461141	18653926	22	19513											
EGFR	1956	hgsc.bcm.edu	37	7	55259437	55259437	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr7:55259437G>A	ENST00000275493.2	+	21	2672	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	EGFR_ENST00000454757.2_Missense_Mutation_p.R779H|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.R787H|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	832	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R832L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGGACCGTCGCTTGGTGCAC	0.547		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	1	Substitution - Missense(1)	lung(1)											111	95	101					7																	55259437		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2495G>A	7.37:g.55259437G>A	ENSP00000275493:p.Arg832His		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153972	0.57259	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.62639	0.01;0.01;0.01	5.82	4.94	0.65067	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.046788	0.85682	D	0.000000	T	0.65595	0.2706	L	0.35487	1.065	0.45733	D	0.998636	B;D	0.71674	0.079;0.998	B;P	0.59056	0.006;0.851	T	0.66396	-0.5934	10	0.45353	T	0.12	.	13.7102	0.62663	0.0744:0.0:0.9256:0.0	.	787;832	Q504U8;P00533	.;EGFR_HUMAN	H	787;702;832;779	ENSP00000415559:R787H;ENSP00000275493:R832H;ENSP00000395243:R779H	ENSP00000275493:R832H	R	+	2	0	EGFR	55226931	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	5.932000	0.70121	1.473000	0.48159	0.650000	0.86243	CGC		0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55259437	G	A	55259437	3	1	335	1	0	0	0	0	1	0	0	0	4969	1087	38	1	2841	1	EGFR	7	55259437	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10		55259437	103879226	23	19514											
FOXP2	93986	hgsc.bcm.edu	37	7	114268729	114268729	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr7:114268729G>T	ENST00000393494.2	+	4	672	c.393G>T	c.(391-393)caG>caT	p.Q131H	FOXP2_ENST00000393491.3_Missense_Mutation_p.Q39H|FOXP2_ENST00000393498.2_Missense_Mutation_p.Q131H|FOXP2_ENST00000393500.3_Missense_Mutation_p.Q39H|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Missense_Mutation_p.Q131H|FOXP2_ENST00000408937.3_Missense_Mutation_p.Q156H|FOXP2_ENST00000393489.3_Missense_Mutation_p.Q39H|FOXP2_ENST00000360232.4_Missense_Mutation_p.Q131H|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000390668.3_Missense_Mutation_p.Q155H|FOXP2_ENST00000403559.4_Missense_Mutation_p.Q131H|FOXP2_ENST00000378237.3_Missense_Mutation_p.Q131H			O15409	FOXP2_HUMAN	forkhead box P2	131	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCATGCTGCAGCAGGTAATGT	0.478																																																0													185	146	160					7																	114268729		2203	4300	6503	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.393G>T	7.37:g.114268729G>T	ENSP00000377132:p.Gln131His		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604233	0.66445	.	.	ENSG00000128573	ENST00000393500;ENST00000324462;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000452963;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.39229	1.53;1.27;1.93;1.53;1.27;1.27;1.09;1.27;1.53;1.09	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	L	0.55213	1.73	0.80722	D	1	D;D;D;D;D;D;D;D	0.60575	0.98;0.98;0.98;0.988;0.988;0.98;0.988;0.988	D;D;D;D;D;D;D;D	0.74674	0.948;0.948;0.948;0.977;0.984;0.948;0.984;0.977	T	0.63102	-0.6712	10	0.87932	D	0	.	14.5807	0.68288	0.0696:0.0:0.9304:0.0	.	131;131;39;131;155;131;156;156	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4;O15409-5	.;.;.;.;.;FOXP2_HUMAN;.;.	H	39;131;131;156;131;131;131;131;39;131;131;155;39	ENSP00000377137:Q39H;ENSP00000377132:Q131H;ENSP00000386200:Q156H;ENSP00000385069:Q131H;ENSP00000265436:Q131H;ENSP00000367482:Q131H;ENSP00000377129:Q39H;ENSP00000353367:Q131H;ENSP00000375084:Q155H;ENSP00000377130:Q39H	ENSP00000319424:Q131H	Q	+	3	2	FOXP2	114055965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.806000	0.75195	1.431000	0.47355	0.650000	0.86243	CAG		0.478	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		T	114268729	G	T	114268729	3	4	335	1	0	0	0	0	1	0	0	0	6029	962	34	4	482	4	FOXP2	7	114268729	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	59009292	114268729	44869934	24	19515											
FAM22F	54754	hgsc.bcm.edu	37	9	97081994	97081994	+	Silent	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr9:97081994G>A	ENST00000253262.4	-	6	1406	c.1386C>T	c.(1384-1386)caC>caT	p.H462H	NUTM2F_ENST00000335456.7_Silent_p.H447H|NUTM2F_ENST00000341207.4_Silent_p.H447H	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	462																	GGAATCGGGGGTGAATGACGG	0.567																																																0													60	60	60					9																	97081994		1808	4038	5846	SO:0001819	synonymous_variant	54754				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1386C>T	9.37:g.97081994G>A			B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	CCDS47994.1																																																																																				0.567	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		A	97081994	G	A	97081994	2	1	335	1	0	0	0	0	0	0	0	1	5547	1252	44	2		2	FAM22F	9	97081994	Silent	SNP	G	TCGA-BP-4341-01A-01D-1366-10		97081994	44131437	25	19516											
POMT1	10585	hgsc.bcm.edu	37	9	134397604	134397604	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr9:134397604C>G	ENST00000372228.3	+	19	2241	c.2062C>G	c.(2062-2064)Ctg>Gtg	p.L688V	POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000423007.1_Missense_Mutation_p.L666V|POMT1_ENST00000402686.3_Missense_Mutation_p.L666V|POMT1_ENST00000354713.4_Missense_Mutation_p.L636V|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000541219.1_Missense_Mutation_p.L406V|POMT1_ENST00000419118.2_Missense_Mutation_p.L514V|POMT1_ENST00000341012.7_Missense_Mutation_p.L612V|POMT1_ENST00000404875.2_Missense_Mutation_p.L549V	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	688					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CAGCGACCACCTGTGCAGGTA	0.612																																																0													91	69	76					9																	134397604		2203	4300	6503	SO:0001583	missense	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.2062C>G	9.37:g.134397604C>G	ENSP00000361302:p.Leu688Val		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961380	0.34565	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713;ENST00000372220	D;D;D;D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.0	5.51	4.55	0.56014	.	0.141786	0.48767	D	0.000172	D	0.88306	0.6401	L	0.28458	0.855	0.54753	D	0.999989	B;B;B;B	0.24651	0.044;0.019;0.108;0.032	B;B;B;B	0.24269	0.021;0.021;0.027;0.052	D	0.84618	0.0682	10	0.30078	T	0.28	-11.0303	14.2036	0.65721	0.15:0.85:0.0:0.0	.	636;406;688;666	B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	V	666;549;612;688;666;514;406;636;287	ENSP00000404119:L666V;ENSP00000384531:L549V;ENSP00000343034:L612V;ENSP00000361302:L688V;ENSP00000385797:L666V;ENSP00000403032:L514V;ENSP00000440895:L406V;ENSP00000346748:L636V;ENSP00000361294:L287V	ENSP00000343034:L612V	L	+	1	2	POMT1	133387425	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	2.806000	0.47947	2.589000	0.87451	0.555000	0.69702	CTG		0.612	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		G	134397604	C	G	134397604	3	3	335	1	0	0	0	0	1	0	0	0	12247	680	24	4	2132	4	POMT1	9	134397604	Missense_Mutation	SNP	C	TCGA-BP-4341-01A-01D-1366-10	37315610	134397604	6815827	26	19517											
POLR3A	11128	hgsc.bcm.edu;ucsc.edu	37	10	79744977	79744977	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr10:79744977G>C	ENST00000372371.3	-	24	3330	c.3193C>G	c.(3193-3195)Ctg>Gtg	p.L1065V		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1065					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGCACGCCCAGGGTGATGTTC	0.547																																																0													140	136	137					10																	79744977		2203	4300	6503	SO:0001583	missense	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3193C>G	10.37:g.79744977G>C	ENSP00000361446:p.Leu1065Val		Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775982	0.70107	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.71103	-0.54	5.95	5.95	0.96441	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.64402	D	0.000001	T	0.82208	0.4987	M	0.92169	3.28	0.58432	D	0.999994	D	0.52996	0.957	P	0.52189	0.692	D	0.85586	0.1243	9	.	.	.	-17.5573	10.3865	0.44143	0.1491:0.0:0.8509:0.0	.	1065	O14802	RPC1_HUMAN	V	1065;1044	ENSP00000361446:L1065V	.	L	-	1	2	POLR3A	79414983	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.462000	0.60121	2.822000	0.97130	0.563000	0.77884	CTG		0.547	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		C	79744977	G	C	79744977	3	2	335	1	0	0	0	0	1	0	0	0	12230	991	35	4	1011	4	POLR3A	10	79744977	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10		79744977	55789770	27	19518											
MPPED2	744	hgsc.bcm.edu;ucsc.edu	37	11	30435856	30435856	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr11:30435856T>C	ENST00000358117.5	-	5	807	c.685A>G	c.(685-687)Aga>Gga	p.R229G	MPPED2_ENST00000448418.2_Missense_Mutation_p.R229G|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	229					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CAGCCCACTCTTTGAAGCTCC	0.448																																																0													117	104	109					11																	30435856		2202	4299	6501	SO:0001583	missense	744			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"chromosome 11 open reading frame 8"	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.685A>G	11.37:g.30435856T>C	ENSP00000350833:p.Arg229Gly		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140138	0.77775	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	T;T	0.41758	0.99;0.99	5.92	4.74	0.60224	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	M	0.64567	1.98	0.80722	D	1	D;P	0.61697	0.99;0.946	P;P	0.56278	0.795;0.628	T	0.59123	-0.7513	10	0.59425	D	0.04	-11.1642	14.4751	0.67541	0.0:0.0:0.1301:0.8699	.	229;229	Q15777;E9PB10	MPPD2_HUMAN;.	G	229	ENSP00000388258:R229G;ENSP00000350833:R229G	ENSP00000350833:R229G	R	-	1	2	MPPED2	30392432	1.000000	0.71417	0.982000	0.44146	0.983000	0.72400	3.354000	0.52254	2.270000	0.75569	0.459000	0.35465	AGA		0.448	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		C	30435856	T	C	30435856	3	2	335	1	0	0	0	0	1	0	0	0	9744	1617	56	3	279	3	MPPED2	11	30435856	Missense_Mutation	SNP	T	TCGA-BP-4341-01A-01D-1366-10		30435856	104570660	28	19519											
FADS3	3995	hgsc.bcm.edu;ucsc.edu	37	11	61643923	61643923	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr11:61643923G>T	ENST00000278829.2	-	9	1140	c.988C>A	c.(988-990)Ctg>Atg	p.L330M	FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000525588.1_Missense_Mutation_p.L302M|FADS3_ENST00000527697.1_Missense_Mutation_p.L206M	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	330					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGCTTTCCAGGACCCTGTGG	0.617																																																0													73	67	69					11																	61643923		2202	4299	6501	SO:0001583	missense	3995				CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"Fatty acid desaturases"	3576	protein-coding gene	gene with protein product	"delta-9-desaturase"	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.988C>A	11.37:g.61643923G>T	ENSP00000278829:p.Leu330Met		O60426	Missense_Mutation	SNP	ENST00000278829.2	37	CCDS8013.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.29|14.29	2.490069|2.490069	0.44249|0.44249	.|.	.|.	ENSG00000221968|ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000525588|ENST00000525094	T;T;T|.	0.76578|.	-1.03;-1.03;-1.03|.	4.82|4.82	4.82|4.82	0.62117|0.62117	Fatty acid desaturase, type 1 (1);|.	.|.	.|.	.|.	.|.	T|T	0.79034|0.79034	0.4378|0.4378	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	D|D	1|1	D;D|.	0.58620|.	0.983;0.983|.	D;D|.	0.66351|.	0.938;0.943|.	T|T	0.82400|0.82400	-0.0476|-0.0476	9|5	0.48119|.	T|.	0.1|.	0.0772|0.0772	11.008|11.008	0.47646|0.47646	0.0:0.0:0.7083:0.2917|0.0:0.0:0.7083:0.2917	.|.	206;330|.	E9PKP8;Q9Y5Q0|.	.;FADS3_HUMAN|.	M|H	206;330;302|4	ENSP00000431533:L206M;ENSP00000278829:L330M;ENSP00000432206:L302M|.	ENSP00000278829:L330M|.	L|P	-|-	1|2	2|0	FADS3|FADS3	61400499|61400499	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.427000|0.427000	0.31564|0.31564	1.114000|1.114000	0.31196|0.31196	2.409000|2.409000	0.81822|0.81822	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.617	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			T	61643923	G	T	61643923	3	4	335	1	0	0	0	0	1	0	0	0	5369	991	35	4	365	4	FADS3	11	61643923	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	31208067	61643923	73362593	29	19520											
RPS6KB2	6199	hgsc.bcm.edu	37	11	67197002	67197002	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr11:67197002T>G	ENST00000312629.5	+	4	290	c.245T>G	c.(244-246)tTc>tGc	p.F82C	RPS6KB2_ENST00000539188.1_Missense_Mutation_p.F82C|RPS6KB2_ENST00000524814.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTACAGGTGTTCCAGGTGCGA	0.527																																																0													68	67	68					11																	67197002		1963	4146	6109	SO:0001583	missense	6199			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.245T>G	11.37:g.67197002T>G	ENSP00000308413:p.Phe82Cys		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517298	0.85495	.	.	ENSG00000175634	ENST00000524934;ENST00000524814;ENST00000539188;ENST00000312629	T;T;T	0.78364	-1.17;-0.23;1.74	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.82421	0.5033	L	0.35487	1.065	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84749	0.0755	10	0.87932	D	0	.	14.8001	0.69909	0.0:0.0:0.0:1.0	.	82;82	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	C	105;82;82;82	ENSP00000436811:F105C;ENSP00000442949:F82C;ENSP00000308413:F82C	ENSP00000308413:F82C	F	+	2	0	RPS6KB2	66953578	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.285000	0.78660	1.966000	0.57179	0.533000	0.62120	TTC		0.527	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		G	67197002	T	G	67197002	3	3	335	1	0	0	0	0	1	0	0	0	13663	1783	62	5	259	5	RPS6KB2	11	67197002	Missense_Mutation	SNP	T	TCGA-BP-4341-01A-01D-1366-10	5553079	67197002	67809514	30	19521											
MED17	9440	hgsc.bcm.edu;ucsc.edu	37	11	93535101	93535101	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr11:93535101G>T	ENST00000251871.3	+	9	1716	c.1429G>T	c.(1429-1431)Gtt>Ttt	p.V477F	MED17_ENST00000533367.1_3'UTR|RN7SL195P_ENST00000582088.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	477					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGTGTGAAAGTTTTAATCAC	0.348																																																0													77	69	72					11																	93535101		2201	4298	6499	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1429G>T	11.37:g.93535101G>T	ENSP00000251871:p.Val477Phe		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380146	0.95945	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.59224	0.28	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	L	0.47716	1.5	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.69277	-0.5187	10	0.87932	D	0	-23.2483	20.1467	0.98079	0.0:0.0:1.0:0.0	.	477	Q9NVC6	MED17_HUMAN	F	477;447	ENSP00000251871:V477F	ENSP00000251871:V477F	V	+	1	0	MED17	93174749	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.419000	0.97397	2.838000	0.97847	0.655000	0.94253	GTT		0.348	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		T	93535101	G	T	93535101	3	4	335	1	0	0	0	0	1	0	0	0	9437	1029	36	4	1463	4	MED17	11	93535101	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	26338099	93535101	41471415	31	19522											
SLCO1B1	10599	hgsc.bcm.edu	37	12	21355424	21355424	+	Splice_Site	SNP	G	G	T	rs143895524		TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr12:21355424G>T	ENST00000256958.2	+	10	1231		c.e10-1			NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTTTTTTCTAGGAGTCATAAC	0.269																																																1	Unknown(1)	skin(1)											32	34	33					12																	21355424		2203	4291	6494	SO:0001630	splice_region_variant	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1136-1G>T	12.37:g.21355424G>T			B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Splice_Site	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680879	0.29872	.	.	ENSG00000134538	ENST00000256958	.	.	.	3.23	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7732	0.51970	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1B1	21246691	1.000000	0.71417	0.906000	0.35671	0.012000	0.07955	6.975000	0.76128	1.783000	0.52377	0.484000	0.47621	.		0.269	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	Intron	T	21355424	G	T	21355424	5	4	335	1	0	0	0	0	0	0	1	0	14729	1014	35	4	1169	4	SLCO1B1	12	21355424	Splice_Site	SNP	G	TCGA-BP-4341-01A-01D-1366-10		21355424	112496471	32	19523											
ADAMTS20	80070	hgsc.bcm.edu;ucsc.edu	37	12	43896209	43896209	+	Splice_Site	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr12:43896209C>T	ENST00000389420.3	-	4	613		c.e4-1		ADAMTS20_ENST00000553158.1_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20						extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATTTGACTTTCTAGGGAGAAA	0.303																																																0													116	133	127					12																	43896209		2203	4297	6500	SO:0001630	splice_region_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.614-1G>A	12.37:g.43896209C>T			A6NNC9|J3QT00	Splice_Site	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320828	0.41096	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9385	0.52886	0.0:0.9187:0.0:0.0813	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS20	42182476	1.000000	0.71417	0.859000	0.33776	0.513000	0.34164	2.363000	0.44178	2.525000	0.85131	0.655000	0.94253	.		0.303	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	Intron	T	43896209	C	T	43896209	5	4	335	1	0	0	0	0	0	0	1	0	266	927	32	2	5262	2	ADAMTS20	12	43896209	Splice_Site	SNP	C	TCGA-BP-4341-01A-01D-1366-10	22540785	43896209	89955686	33	19524											
FGD6	55785	hgsc.bcm.edu;ucsc.edu	37	12	95602827	95602827	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr12:95602827C>A	ENST00000343958.4	-	2	2456	c.2233G>T	c.(2233-2235)Gca>Tca	p.A745S	FGD6_ENST00000549499.1_Missense_Mutation_p.A745S|FGD6_ENST00000546711.1_Missense_Mutation_p.A745S|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	745					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TACTCCGGTGCACAGAGGCTT	0.453																																																0													106	100	102					12																	95602827		2203	4300	6503	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2233G>T	12.37:g.95602827C>A	ENSP00000344446:p.Ala745Ser		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167050	0.38217	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68331	-0.22;-0.32;-0.25	5.77	5.77	0.91146	.	0.284335	0.25296	N	0.031683	T	0.54224	0.1845	L	0.46157	1.445	0.24350	N	0.994927	B	0.22909	0.077	B	0.21360	0.034	T	0.41179	-0.9523	10	0.09084	T	0.74	-1.6594	9.8206	0.40880	0.0:0.7867:0.1408:0.0725	.	745	Q6ZV73	FGD6_HUMAN	S	745	ENSP00000344446:A745S;ENSP00000450342:A745S;ENSP00000449005:A745S	ENSP00000344446:A745S	A	-	1	0	FGD6	94126958	0.018000	0.18449	0.261000	0.24466	0.982000	0.71751	1.857000	0.39399	2.724000	0.93272	0.561000	0.74099	GCA		0.453	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		A	95602827	C	A	95602827	3	1	335	1	0	0	0	0	1	0	0	0	5839	710	25	4	2139	4	FGD6	12	95602827	Missense_Mutation	SNP	C	TCGA-BP-4341-01A-01D-1366-10	51706618	95602827	38249068	34	19525											
AHNAK2	113146	hgsc.bcm.edu	37	14	105405419	105405419	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr14:105405419C>A	ENST00000333244.5	-	7	16488	c.16369G>T	c.(16369-16371)Gct>Tct	p.A5457S	AHNAK2_ENST00000557457.1_Missense_Mutation_p.A455S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5457						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATTGGGGGAGCTTCCAAAGGC	0.532																																																0													22	21	22					14																	105405419		1873	4112	5985	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16369G>T	14.37:g.105405419C>A	ENSP00000353114:p.Ala5457Ser		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910893	0.52439	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.01084	5.36;5.37	5.23	2.21	0.28008	.	0.601605	0.13042	U	0.418477	T	0.03011	0.0089	L	0.58101	1.795	0.09310	N	1	D	0.60575	0.988	P	0.56216	0.794	T	0.19321	-1.0309	10	0.05721	T	0.95	.	14.9368	0.70964	0.0:0.5525:0.4475:0.0	.	5457	Q8IVF2	AHNK2_HUMAN	S	455;5457	ENSP00000450998:A455S;ENSP00000353114:A5457S	ENSP00000353114:A5457S	A	-	1	0	AHNAK2	104476464	0.001000	0.12720	0.000000	0.03702	0.048000	0.14542	0.795000	0.26972	0.237000	0.21200	-0.479000	0.04858	GCT		0.532	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105405419	C	A	105405419	3	1	335	1	0	0	0	0	1	0	0	0	415	797	28	4	1022	4	AHNAK2	14	105405419	Missense_Mutation	SNP	C	TCGA-BP-4341-01A-01D-1366-10		105405419	1944121	35	19526											
FMN1	342184	hgsc.bcm.edu;ucsc.edu	37	15	33358817	33358817	+	Intron	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr15:33358817C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000334528.9_Silent_p.E423E|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Silent_p.E423E|FMN1_ENST00000559150.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAGCTTCCAGCTCAGAGGTGT	0.552																																																0													52	52	52					15																	33358817		1958	4153	6111	SO:0001627	intron_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1542G>A	15.37:g.33358817C>T			Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37																																																																																					0.552	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		T	33358817	C	T	33358817	1	4	335	0	1	0	0	0	0	0	0	0	5951	796	28	2		2	FMN1	15	33358817	Intron	SNP	C	TCGA-BP-4341-01A-01D-1366-10		33358817	69172575	36	19527											
TRPM7	54822	hgsc.bcm.edu;ucsc.edu	37	15	50899483	50899483	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr15:50899483G>C	ENST00000313478.7	-	20	2904	c.2623C>G	c.(2623-2625)Ctt>Gtt	p.L875V	TRPM7_ENST00000560955.1_Missense_Mutation_p.L875V	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	875					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTTGTACAAGAACCACAAAT	0.289																																																0													75	71	72					15																	50899483		1821	4063	5884	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2623C>G	15.37:g.50899483G>C	ENSP00000320239:p.Leu875Val		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064241	0.76187	.	.	ENSG00000092439	ENST00000313478	T	0.72942	-0.7	5.45	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	M	0.88979	2.995	0.58432	D	0.99999	B	0.22541	0.071	B	0.22880	0.042	T	0.76377	-0.2981	10	0.87932	D	0	-15.645	10.9945	0.47567	0.1435:0.0:0.8565:0.0	.	875	Q96QT4	TRPM7_HUMAN	V	875	ENSP00000320239:L875V	ENSP00000320239:L875V	L	-	1	0	TRPM7	48686775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.791000	0.75120	2.552000	0.86080	0.557000	0.71058	CTT		0.289	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		C	50899483	G	C	50899483	3	2	335	1	0	0	0	0	1	0	0	0	16596	942	33	4	3054	4	TRPM7	15	50899483	Missense_Mutation	SNP	G	TCGA-BP-4341-01A-01D-1366-10	17540666	50899483	51631909	37	19528											
PRC1	9055	hgsc.bcm.edu;ucsc.edu	37	15	91523521	91523521	+	Silent	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr15:91523521C>T	ENST00000361188.5	-	7	2132	c.921G>A	c.(919-921)caG>caA	p.Q307Q	PRC1_ENST00000394249.3_Silent_p.Q307Q|PRC1_ENST00000442656.2_Silent_p.Q266Q|PRC1-AS1_ENST00000554388.1_RNA|Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000361919.3_Silent_p.Q307Q					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TATAAAAGCACTGGTCCCAGT	0.448																																																0													175	145	155					15																	91523521		2198	4298	6496	SO:0001819	synonymous_variant	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.921G>A	15.37:g.91523521C>T				Silent	SNP	ENST00000361188.5	37	CCDS45352.1																																																																																				0.448	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		T	91523521	C	T	91523521	2	4	335	1	0	0	0	0	0	0	0	1	12451	564	20	2		2	PRC1	15	91523521	Silent	SNP	C	TCGA-BP-4341-01A-01D-1366-10	40624038	91523521	11007871	38	19529											
BRD7	29117	hgsc.bcm.edu;ucsc.edu	37	16	50354652	50354652	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr16:50354652A>G	ENST00000394688.3	-	14	1693	c.1534T>C	c.(1534-1536)Tcc>Ccc	p.S512P	BRD7_ENST00000394689.2_Missense_Mutation_p.S513P			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	512					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGAGTACTGGAGTCCAAACGC	0.448																																																0													170	172	171					16																	50354652		2198	4300	6498	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1534T>C	16.37:g.50354652A>G	ENSP00000378180:p.Ser512Pro		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770380	0.31320	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.47869	0.83;0.83	5.68	3.4	0.38934	.	0.780588	0.12583	N	0.456300	T	0.38983	0.1061	L	0.49350	1.555	0.31711	N	0.639514	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38585	-0.9654	10	0.32370	T	0.25	-13.2715	6.4084	0.21678	0.7502:0.0:0.1325:0.1173	.	512;513	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	P	512;513	ENSP00000378180:S512P;ENSP00000378181:S513P	ENSP00000378180:S512P	S	-	1	0	BRD7	48912153	0.987000	0.35691	0.505000	0.27651	0.890000	0.51754	0.311000	0.19380	0.403000	0.25479	0.533000	0.62120	TCC		0.448	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		G	50354652	A	G	50354652	3	3	335	1	0	0	0	0	1	0	0	0	1507	304	11	3	437	3	BRD7	16	50354652	Missense_Mutation	SNP	A	TCGA-BP-4341-01A-01D-1366-10		50354652	40000101	39	19530											
CHD9	80205	hgsc.bcm.edu	37	16	53358033	53358033	+	Silent	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr16:53358033G>A	ENST00000398510.3	+	38	8007	c.7920G>A	c.(7918-7920)aaG>aaA	p.K2640K	CHD9_ENST00000564845.1_Silent_p.K2624K|CHD9_ENST00000566029.1_Silent_p.K2624K|CHD9_ENST00000447540.1_Silent_p.K2625K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2640	Poly-Ala.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAATTGCAAAGGCCACAGCAG	0.507																																																0													100	101	101					16																	53358033		1927	4139	6066	SO:0001819	synonymous_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7920G>A	16.37:g.53358033G>A			B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																					0.507	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		A	53358033	G	A	53358033	2	1	335	1	0	0	0	0	0	0	0	1	3334	991	35	2		2	CHD9	16	53358033	Silent	SNP	G	TCGA-BP-4341-01A-01D-1366-10	3003381	53358033	36996720	40	19531											
CDH8	1006	hgsc.bcm.edu;ucsc.edu	37	16	61761058	61761058	+	Silent	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr16:61761058G>A	ENST00000577390.1	-	9	2430	c.1476C>T	c.(1474-1476)aaC>aaT	p.N492N	CDH8_ENST00000299345.6_Silent_p.N492N|CDH8_ENST00000584337.1_Silent_p.N492N|CDH8_ENST00000577730.1_Silent_p.N492N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	492	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.N492K(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTCAGGGGCGTTGTCATTGA	0.393																																																1	Substitution - Missense(1)	lung(1)											180	166	171					16																	61761058		2203	4299	6502	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1476C>T	16.37:g.61761058G>A			B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		A	61761058	G	A	61761058	2	1	335	1	0	0	0	0	0	0	0	1	3118	1136	40	1		1	CDH8	16	61761058	Silent	SNP	G	TCGA-BP-4341-01A-01D-1366-10	8403025	61761058	28593695	41	19532											
PHLPP2	23035	hgsc.bcm.edu;ucsc.edu	37	16	71689235	71689235	+	Silent	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr16:71689235C>T	ENST00000568954.1	-	17	2871	c.2493G>A	c.(2491-2493)ctG>ctA	p.L831L	PHLPP2_ENST00000567016.1_Silent_p.L866L|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000360429.3_Silent_p.L831L|PHLPP2_ENST00000393524.2_Silent_p.L764L|PHLPP2_ENST00000540628.1_Silent_p.L41L|PHLPP2_ENST00000356272.3_Silent_p.L831L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	831	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCGTACACTGCAGCAGGCGCG	0.498																																																0													215	201	206					16																	71689235		2198	4300	6498	SO:0001819	synonymous_variant	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2493G>A	16.37:g.71689235C>T			A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	CCDS32479.1																																																																																				0.498	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		T	71689235	C	T	71689235	2	4	335	1	0	0	0	0	0	0	0	1	11857	697	25	2		2	PHLPP2	16	71689235	Silent	SNP	C	TCGA-BP-4341-01A-01D-1366-10	9928177	71689235	18665518	42	19533											
AP1G1	164	hgsc.bcm.edu;ucsc.edu	37	16	71798592	71798592	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr16:71798592T>C	ENST00000299980.4	-	8	1217	c.776A>G	c.(775-777)aAt>aGt	p.N259S	AP1G1_ENST00000433195.2_Missense_Mutation_p.N282S|AP1G1_ENST00000569748.1_Missense_Mutation_p.N259S|AP1G1_ENST00000393512.3_Missense_Mutation_p.N262S|AP1G1_ENST00000423132.2_Missense_Mutation_p.N262S	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	259					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATCATCATCATTTCGTCCTAA	0.328																																																0													87	87	87					16																	71798592		2198	4299	6497	SO:0001583	missense	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.776A>G	16.37:g.71798592T>C	ENSP00000299980:p.Asn259Ser		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963408	0.53507	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.67	5.67	0.87782	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.131840	0.64402	D	0.000001	T	0.29817	0.0745	M	0.71296	2.17	0.50313	D	0.999864	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.10989	-1.0606	10	0.16420	T	0.52	-15.1131	15.9141	0.79496	0.0:0.0:0.0:1.0	.	259;282;262	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	S	259;262;262;282;130;344	ENSP00000299980:N259S;ENSP00000377148:N262S;ENSP00000409153:N262S;ENSP00000403259:N282S	ENSP00000299980:N259S	N	-	2	0	AP1G1	70356093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.587000	0.60991	2.154000	0.67381	0.533000	0.62120	AAT		0.328	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			C	71798592	T	C	71798592	3	2	335	1	0	0	0	0	1	0	0	0	732	1493	52	3	1756	3	AP1G1	16	71798592	Missense_Mutation	SNP	T	TCGA-BP-4341-01A-01D-1366-10	109357	71798592	18556161	43	19534											
KRT13	3860	hgsc.bcm.edu	37	17	39658938	39658938	+	Splice_Site	SNP	C	C	T	rs145167376		TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr17:39658938C>T	ENST00000246635.3	-	5	1070		c.e5+1		KRT13_ENST00000587544.1_Splice_Site|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Splice_Site|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13						cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TGCAGGCATACCATGCTCAGC	0.597																																																1	Unknown(1)	skin(1)											123	110	114					17																	39658938		2203	4300	6503	SO:0001630	splice_region_variant	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1023+1G>A	17.37:g.39658938C>T			Q53G54|Q6AZK5|Q8N240	Splice_Site	SNP	ENST00000246635.3	37	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077358	0.55753	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7991	0.78436	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT13	36912464	1.000000	0.71417	0.998000	0.56505	0.633000	0.38033	7.278000	0.78587	2.460000	0.83146	0.478000	0.44815	.		0.597	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490	Intron	T	39658938	C	T	39658938	5	4	335	1	0	0	0	0	0	0	1	0	8452	521	18	2	368	2	KRT13	17	39658938	Splice_Site	SNP	C	TCGA-BP-4341-01A-01D-1366-10		39658938	41536272	44	19535											
MTMR4	9110	hgsc.bcm.edu	37	17	56584197	56584197	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr17:56584197T>A	ENST00000323456.5	-	10	1022	c.898A>T	c.(898-900)Aca>Tca	p.T300S	MTMR4_ENST00000579925.1_Missense_Mutation_p.T300S	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	300	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAGCTGCTGTGCTCTCCACT	0.582																																																0													58	54	55					17																	56584197		2203	4300	6503	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.898A>T	17.37:g.56584197T>A	ENSP00000325285:p.Thr300Ser		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	T	8.588	0.883883	0.17467	.	.	ENSG00000108389	ENST00000323456	D	0.92647	-3.08	5.63	2.15	0.27550	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.665350	0.15053	N	0.283193	T	0.69124	0.3076	N	0.00864	-1.135	0.28116	N	0.930814	B	0.02656	0.0	B	0.04013	0.001	T	0.63341	-0.6659	10	0.02654	T	1	.	4.6374	0.12531	0.1414:0.2911:0.0:0.5675	.	300	Q9NYA4	MTMR4_HUMAN	S	300	ENSP00000325285:T300S	ENSP00000325285:T300S	T	-	1	0	MTMR4	53939196	0.656000	0.27385	0.997000	0.53966	0.989000	0.77384	1.387000	0.34430	0.144000	0.18951	0.524000	0.50904	ACA		0.582	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		A	56584197	T	A	56584197	3	1	335	1	0	0	0	0	1	0	0	0	9948	1696	59	5	2729	5	MTMR4	17	56584197	Missense_Mutation	SNP	T	TCGA-BP-4341-01A-01D-1366-10	16925259	56584197	24611013	45	19536											
SMCHD1	23347	hgsc.bcm.edu;ucsc.edu	37	18	2796405	2796405	+	Splice_Site	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr18:2796405G>A	ENST00000320876.6	+	47	6217	c.5879G>A	c.(5878-5880)gGt>gAt	p.G1960D	RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1960					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATCTTCACAGGTATGACTCCC	0.333																																																0													47	42	44					18																	2796405		1848	4104	5952	SO:0001630	splice_region_variant	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.5879-1G>A	18.37:g.2796405G>A			O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717138	0.30413	.	.	ENSG00000101596	ENST00000320876	T	0.29655	1.56	5.11	5.11	0.69529	.	.	.	.	.	T	0.50120	0.1597	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	P	0.60949	0.881	T	0.43814	-0.9368	8	.	.	.	.	17.4714	0.87647	0.0:0.0:1.0:0.0	.	1960	A6NHR9	SMHD1_HUMAN	D	1960	ENSP00000326603:G1960D	.	G	+	2	0	SMCHD1	2786405	1.000000	0.71417	0.985000	0.45067	0.913000	0.54294	5.963000	0.70372	2.514000	0.84764	0.655000	0.94253	GGT		0.333	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		Missense_Mutation	A	2796405	G	A	2796405	5	1	335	1	0	0	0	0	0	0	1	0	14794	1275	44	2	6065	2	SMCHD1	18	2796405	Splice_Site	SNP	G	TCGA-BP-4341-01A-01D-1366-10		2796405	75280843	46	19537											
FBN3	84467	hgsc.bcm.edu	37	19	8193952	8193952	+	Silent	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr19:8193952G>A	ENST00000600128.1	-	18	2670	c.2256C>T	c.(2254-2256)ccC>ccT	p.P752P	FBN3_ENST00000270509.2_Silent_p.P752P|FBN3_ENST00000601739.1_Silent_p.P752P			Q75N90	FBN3_HUMAN	fibrillin 3	752	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGAAGCCGGGGGGGCAGGAGC	0.602																																																0													43	48	46					19																	8193952		2203	4300	6503	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2256C>T	19.37:g.8193952G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8193952	G	A	8193952	2	1	335	1	0	0	0	0	0	0	0	1	5706	1219	43	2		2	FBN3	19	8193952	Silent	SNP	G	TCGA-BP-4341-01A-01D-1366-10		8193952	50935031	47	19538											
EPS15L1	58513	hgsc.bcm.edu	37	19	16547765	16547765	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr19:16547765C>A	ENST00000248070.6	-	6	494	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S	EPS15L1_ENST00000602009.1_5'Flank|EPS15L1_ENST00000597937.1_Missense_Mutation_p.A119S|EPS15L1_ENST00000455140.2_Missense_Mutation_p.A119S|EPS15L1_ENST00000594975.1_Missense_Mutation_p.A119S|EPS15L1_ENST00000535753.2_Missense_Mutation_p.A119S	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	119	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCCCAGTGGGCCTCTGCAGAG	0.502																																																0													109	103	105					19																	16547765		2203	4300	6503	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.355G>T	19.37:g.16547765C>A	ENSP00000248070:p.Ala119Ser		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	3.981	-0.006471	0.07773	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.29397	1.57;1.57;1.57	5.02	2.59	0.31030	EF-hand-like domain (1);	0.692728	0.13829	N	0.359890	T	0.10337	0.0253	N	0.02721	-0.515	0.23773	N	0.996886	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.33266	-0.9875	10	0.06494	T	0.89	.	7.2037	0.25895	0.151:0.6689:0.0:0.1801	.	119;119;119;119;119	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	S	119	ENSP00000393313:A119S;ENSP00000248070:A119S;ENSP00000440103:A119S	ENSP00000248070:A119S	A	-	1	0	EPS15L1	16408765	0.754000	0.28360	1.000000	0.80357	0.921000	0.55340	0.126000	0.15769	1.086000	0.41228	0.561000	0.74099	GCC		0.502	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		A	16547765	C	A	16547765	3	1	335	1	0	0	0	0	1	0	0	0	5195	739	26	4	2311	4	EPS15L1	19	16547765	Missense_Mutation	SNP	C	TCGA-BP-4341-01A-01D-1366-10	8353813	16547765	42581218	48	19539											
PCK1	5105	hgsc.bcm.edu	37	20	56136506	56136506	+	Silent	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr20:56136506C>T	ENST00000319441.4	+	2	203	c.39C>T	c.(37-39)gcC>gcT	p.A13A	PCK1_ENST00000535860.1_5'Flank|PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	13					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ACCTCTCGGCCAAAGTTGTCC	0.542																																																0													91	89	90					20																	56136506		2203	4300	6503	SO:0001819	synonymous_variant	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.39C>T	20.37:g.56136506C>T			A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	CCDS13460.1																																																																																				0.542	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			T	56136506	C	T	56136506	2	4	335	1	0	0	0	0	0	0	0	1	11583	581	21	2		2	PCK1	20	56136506	Silent	SNP	C	TCGA-BP-4341-01A-01D-1366-10		56136506	6889014	49	19540											
DONSON	29980	hgsc.bcm.edu	37	21	34955918	34955918	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr21:34955918A>C	ENST00000303071.5	-	5	906	c.840T>G	c.(838-840)taT>taG	p.Y280*	DONSON_ENST00000432378.1_Nonsense_Mutation_p.Y280*|DONSON_ENST00000453626.1_Nonsense_Mutation_p.Y280*|DONSON_ENST00000303113.6_Nonsense_Mutation_p.Y266*	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	280					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AAACGTAGAAATAGGGGCAAA	0.358																																																0													74	73	74					21																	34955918		2203	4300	6503	SO:0001587	stop_gained	29980			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.840T>G	21.37:g.34955918A>C	ENSP00000307143:p.Tyr280*		Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Nonsense_Mutation	SNP	ENST00000303071.5	37	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.342619|5.342619	0.95783|0.95783	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000437395|ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378	.|.	.|.	.|.	6.17|6.17	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.25382|.	0.0617|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30650|.	-0.9971|.	3|.	.|0.02654	.|T	.|1	-18.411|-18.411	10.0607|10.0607	0.42273|0.42273	0.8627:0.0:0.1373:0.0|0.8627:0.0:0.1373:0.0	.|.	.|.	.|.	.|.	S|X	251|266;280;280;280	.|.	.|ENSP00000307143:Y280X	I|Y	-|-	2|3	0|2	DONSON|DONSON	33877788|33877788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.634000|3.634000	0.54302|0.54302	1.160000|1.160000	0.42584|0.42584	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.358	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		C	34955918	A	C	34955918	4	2	335	1	0	0	0	0	0	1	0	0	4708	108	4	5	884	5	DONSON	21	34955918	Nonsense_Mutation	SNP	A	TCGA-BP-4341-01A-01D-1366-10		34955918	13173977	50	19541	157	2									
DONSON	29980	hgsc.bcm.edu	37	21	34955920	34955920	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr21:34955920A>G	ENST00000303071.5	-	5	904	c.838T>C	c.(838-840)Tat>Cat	p.Y280H	DONSON_ENST00000432378.1_Missense_Mutation_p.Y280H|DONSON_ENST00000453626.1_Missense_Mutation_p.Y280H|DONSON_ENST00000303113.6_Missense_Mutation_p.Y266H	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	280					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						ACGTAGAAATAGGGGCAAAGT	0.363																																																0													73	73	73					21																	34955920		2203	4300	6503	SO:0001583	missense	29980			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.838T>C	21.37:g.34955920A>G	ENSP00000307143:p.Tyr280His		Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	CCDS13632.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939343	0.92526	.	.	ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84032	0.5383	M	0.87900	2.915	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.85333	0.1091	9	0.48119	T	0.1	-18.411	16.4837	0.84171	1.0:0.0:0.0:0.0	.	266;280	F8W8A5;Q9NYP3	.;DONS_HUMAN	H	266;280;280;280	.	ENSP00000307143:Y280H	Y	-	1	0	DONSON	33877790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.420000	0.90256	2.371000	0.80710	0.533000	0.62120	TAT		0.363	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		G	34955920	A	G	34955920	3	3	335	1	0	0	0	0	1	0	0	0	4708	420	15	3	886	3	DONSON	21	34955920	Missense_Mutation	SNP	A	TCGA-BP-4341-01A-01D-1366-10	2	34955920	13173975	51	19542	157	2									
UTP14A	10813	hgsc.bcm.edu;ucsc.edu	37	X	129054543	129054543	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chrX:129054543A>T	ENST00000394422.3	+	9	891	c.863A>T	c.(862-864)aAg>aTg	p.K288M	UTP14A_ENST00000371042.3_Missense_Mutation_p.K120M|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.K236M|UTP14A_ENST00000371051.5_Missense_Mutation_p.K234M	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	288					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAATTGAAAAGGCCAGAATG	0.473																																																0													129	129	129					X																	129054543		2203	4300	6503	SO:0001583	missense	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.863A>T	X.37:g.129054543A>T	ENSP00000377944:p.Lys288Met		A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305176	0.60305	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	6.17	0.984	0.19773	.	0.340984	0.35179	N	0.003400	T	0.34861	0.0912	M	0.71920	2.185	0.38291	D	0.942691	D;B;D	0.69078	0.997;0.119;0.991	P;B;P	0.62740	0.906;0.114;0.898	T	0.12553	-1.0543	10	0.46703	T	0.11	-13.2251	6.246	0.20818	0.6784:0.1205:0.201:0.0	.	234;236;288	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	M	236;288;234;120;120	ENSP00000388669:K236M;ENSP00000377944:K288M;ENSP00000360090:K234M;ENSP00000413187:K120M;ENSP00000360081:K120M	ENSP00000360081:K120M	K	+	2	0	UTP14A	128882224	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	1.272000	0.33109	0.062000	0.16340	0.486000	0.48141	AAG		0.473	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		T	129054543	A	T	129054543	3	4	335	1	0	0	0	0	1	0	0	0	17100	72	3	5	897	5	UTP14A	23	129054543	Missense_Mutation	SNP	A	TCGA-BP-4341-01A-01D-1366-10		129054543	26216017	52	19543											
VHL	7428	hgsc.bcm.edu	37	3	10183764	10183764	+	Missense_Mutation	SNP	A	A	G	rs5030804		TCGA-BP-4342-01A-01W-1362-10	TCGA-BP-4342-11A-01W-1362-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	7da54727-f4bb-4f89-b348-c3f18775fda2	9734fa6e-4568-41db-963f-22cf694aac6c	g.chr3:10183764A>G	ENST00000256474.2	+	1	1073	c.233A>G	c.(232-234)aAt>aGt	p.N78S	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.N78S	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	78			N -> H (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|N -> S (in VHLD; type I; common mutation; dbSNP:rs5030804). {ECO:0000269|PubMed:8956040}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N78I(3)|p.N78S(3)|p.F76fs*80(2)|p.N78T(2)|p.N78fs*54(2)|p.N78fs*53(2)|p.S72_V87>L(1)|p.C77fs*53(1)|p.R60fs*35(1)|p.C77_R79del(1)|p.N78fs*81(1)|p.V74fs*77(1)|p.F76fs*81(1)|p.N78fs*50(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATCTTCTGCAATCGCAGTCCG	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	22	Deletion - Frameshift(8)|Substitution - Missense(8)|Insertion - Frameshift(2)|Complex - frameshift(2)|Deletion - In frame(1)|Complex - deletion inframe(1)	kidney(20)|thyroid(1)|pancreas(1)	GRCh37	CM951271|CM951272|HM971371	VHL	M	rs5030804						12	15	14					3																	10183764		2177	4239	6416	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.233A>G	3.37:g.10183764A>G	ENSP00000256474:p.Asn78Ser		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	33	5.249015	0.95305	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99960	-9.18;-9.18	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.043720	0.85682	D	0.000000	D	0.99947	0.9977	M	0.84773	2.715	0.42398	D	0.992553	D;D	0.64830	0.994;0.989	P;P	0.59056	0.851;0.702	D	0.94745	0.7922	10	0.62326	D	0.03	-4.0134	13.5016	0.61459	1.0:0.0:0.0:0.0	rs5030804	78;78	P40337-2;P40337	.;VHL_HUMAN	S	78	ENSP00000256474:N78S;ENSP00000344757:N78S	ENSP00000256474:N78S	N	+	2	0	VHL	10158764	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.728000	0.68531	2.069000	0.61940	0.450000	0.29827	AAT		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183764	A	G	10183764	3	3	336	1	0	0	0	0	1	0	0	0	17167	101	4	3	235	3	VHL	3	10183764	Missense_Mutation	SNP	A	TCGA-BP-4342-01A-01W-1362-10		10183764	187838666	1	19544											
ATAD3C	219293	hgsc.bcm.edu	37	1	1403814	1403814	+	Silent	SNP	C	C	T	rs146537972	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr1:1403814C>T	ENST00000378785.2	+	12	2135	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	380							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCATGATGGACGCCTGCGTGC	0.662													N|||	386	0.0770767	0.0643	0.0807	5008	,	,		15876	0.127		0.0388	False		,,,				2504	0.0798															0								C		231,4171		8,215,1978	38	40	39		1140	-2.5	0.3	1	dbSNP_134	39	265,8325		7,251,4037	no	coding-synonymous	ATAD3C	NM_001039211.2		15,466,6015	TT,TC,CC		3.085,5.2476,3.8177		380/412	1403814	496,12496	2201	4295	6496	SO:0001819	synonymous_variant	219293			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.1140C>T	1.37:g.1403814C>T			Q8N1Z5	Silent	SNP	ENST00000378785.2	37	CCDS44039.1																																																																																				0.662	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		T	1403814	C	T	1403814	2	4	337	1	0	0	0	0	0	0	0	1	1075	535	19	1		1	ATAD3C	1	1403814	Silent	SNP	C	TCGA-BP-4343-01A-02D-1366-10		1403814	247846807	1	19545											
VPS13D	55187	hgsc.bcm.edu;ucsc.edu	37	1	12403073	12403073	+	Silent	SNP	C	C	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr1:12403073C>T	ENST00000358136.3	+	42	8980	c.8850C>T	c.(8848-8850)ccC>ccT	p.P2950P	VPS13D_ENST00000356315.4_Silent_p.P2925P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGAGATTCCCTTTGAATTTG	0.408																																																0													99	90	93					1																	12403073		2203	4300	6503	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8850C>T	1.37:g.12403073C>T				Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	6.629	0.484584	0.12641	.	.	ENSG00000048707	ENST00000011700	T	0.50813	0.73	5.52	-3.11	0.05299	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29488	-1.0010	7	0.51188	T	0.08	.	2.052	0.03573	0.141:0.3482:0.1595:0.3513	.	.	.	.	L	1772	ENSP00000011700:P1772L	ENSP00000011700:P1772L	P	+	2	0	VPS13D	12325660	0.398000	0.25279	0.982000	0.44146	0.820000	0.46376	-0.428000	0.06991	-0.447000	0.07138	-0.810000	0.03169	CCT		0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12403073	C	T	12403073	2	4	337	1	0	0	0	0	0	0	0	1	17197	668	24	2		2	VPS13D	1	12403073	Silent	SNP	C	TCGA-BP-4343-01A-02D-1366-10	10999259	12403073	236847548	2	19546											
AKR7L	246181	hgsc.bcm.edu	37	1	19595194	19595194	+	RNA	SNP	A	A	G	rs75616155	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr1:19595194A>G	ENST00000429712.1	-	0	825				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TCCTTCCAGAAGCTGTTCAGT	0.647													.|||	576	0.115016	0.3154	0.0778	5008	,	,		16606	0.0		0.0944	False		,,,				2504	0.0102															0								A		1210,3196	413.5+/-336.5	169,872,1162	76	67	70			3.5	1	1	dbSNP_131	70	814,7786	186.6+/-234.0	40,734,3526	no	intergenic				209,1606,4688	GG,GA,AA		9.4651,27.4626,15.562			19595194	2024,10982	2203	4300	6503			246181					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595194A>G			Q5U614	Missense_Mutation	SNP	ENST00000429712.1	37		254	0.1163003663003663	150	0.3048780487804878	32	0.08839779005524862	0	0.0	72	0.09498680738786279	A	17.65	3.442406	0.63067	0.274626	0.094651	ENSG00000211454	ENST00000420396;ENST00000457194;ENST00000429712;ENST00000388886	T	0.03889	3.77	3.49	3.49	0.39957	NADP-dependent oxidoreductase domain (3);	0.184226	0.49916	D	0.000134	T	0.00012	0.0000	.	.	.	0.40273	P	0.021683000000000008	P	0.44006	0.824	P	0.50934	0.654	T	0.47923	-0.9079	8	0.72032	D	0.01	.	11.2248	0.48877	1.0:0.0:0.0:0.0	.	236	Q8NHP1	ARK74_HUMAN	L	58;126;236;201	ENSP00000406430:F58L	ENSP00000373538:F201L	F	-	1	0	AKR7L	19467781	1.000000	0.71417	0.952000	0.39060	0.311000	0.27955	8.284000	0.89912	1.587000	0.49959	0.377000	0.23210	TTC		0.647	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		G	19595194	A	G	19595194	1	3	337	0	1	0	0	0	0	0	0	0	477	86	3	3		3	AKR7L	1	19595194	RNA	SNP	A	TCGA-BP-4343-01A-02D-1366-10	7192121	19595194	229655427	3	19547											
PTPRU	10076	hgsc.bcm.edu	37	1	29618536	29618536	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr1:29618536G>T	ENST00000345512.3	+	16	2633	c.2504G>T	c.(2503-2505)cGg>cTg	p.R835L	PTPRU_ENST00000428026.2_Missense_Mutation_p.R825L|PTPRU_ENST00000323874.8_Missense_Mutation_p.R825L|PTPRU_ENST00000373779.3_Missense_Mutation_p.R825L|PTPRU_ENST00000356870.3_Missense_Mutation_p.R825L|PTPRU_ENST00000460170.2_Missense_Mutation_p.R825L|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	835	Mediates interaction with CTNNB1. {ECO:0000250}.		R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TACAGCACCCGGGGTGAGTGC	0.617																																																0													44	45	45					1																	29618536		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2504G>T	1.37:g.29618536G>T	ENSP00000334941:p.Arg835Leu		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902851	0.92035	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.34275	1.41;1.43;1.43;1.43;1.37;1.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.62723	1.935	0.52501	D	0.99995	P;B;P;P;P	0.48998	0.918;0.065;0.918;0.866;0.866	P;B;P;B;B	0.46975	0.533;0.036;0.533;0.353;0.333	T	0.35599	-0.9782	9	.	.	.	.	15.8259	0.78706	0.0:0.0:1.0:0.0	.	825;825;825;825;835	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	L	835;825;825;825;825;825	ENSP00000334941:R835L;ENSP00000362884:R825L;ENSP00000349333:R825L;ENSP00000314987:R825L;ENSP00000392332:R825L;ENSP00000432906:R825L	.	R	+	2	0	PTPRU	29491123	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.432000	0.80349	2.477000	0.83638	0.655000	0.94253	CGG		0.617	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			T	29618536	G	T	29618536	3	4	337	1	0	0	0	0	1	0	0	0	12819	1116	39	4	2566	4	PTPRU	1	29618536	Missense_Mutation	SNP	G	TCGA-BP-4343-01A-02D-1366-10	10023342	29618536	219632085	4	19548											
DMBX1	127343	hgsc.bcm.edu	37	1	46976717	46976717	+	Silent	SNP	C	C	T	rs12045245	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr1:46976717C>T	ENST00000360032.3	+	3	458	c.444C>T	c.(442-444)gcC>gcT	p.A148A	DMBX1_ENST00000371956.4_Silent_p.A153A	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AAGGCAAGGCCGAGGCCCCCA	0.637													C|||	1516	0.302716	0.4924	0.1916	5008	,	,		17349	0.2718		0.175	False		,,,				2504	0.2883															0								C	,	1891,2515	537.0+/-374.6	392,1107,704	51	61	58		459,444	-9.7	0	1	dbSNP_120	58	1401,7199	269.1+/-288.2	146,1109,3045	no	coding-synonymous,coding-synonymous	DMBX1	NM_147192.2,NM_172225.1	,	538,2216,3749	TT,TC,CC		16.2907,42.9187,25.3114	,	153/383,148/378	46976717	3292,9714	2203	4300	6503	SO:0001819	synonymous_variant	127343			AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.444C>T	1.37:g.46976717C>T				Silent	SNP	ENST00000360032.3	37	CCDS536.1																																																																																				0.637	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			T	46976717	C	T	46976717	2	4	337	1	0	0	0	0	0	0	0	1	4580	639	23	1		1	DMBX1	1	46976717	Silent	SNP	C	TCGA-BP-4343-01A-02D-1366-10	17358181	46976717	202273904	5	19549											
IWS1	55677	hgsc.bcm.edu	37	2	128262648	128262648	+	Silent	SNP	T	T	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr2:128262648T>C	ENST00000295321.4	-	3	1090	c.831A>G	c.(829-831)gaA>gaG	p.E277E	IWS1_ENST00000486662.1_5'Flank|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Silent_p.E284E	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	277	3 X approximate tandem repeats.|Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GATCCTCACTTTCCGAATCAC	0.547																																																0													146	159	155					2																	128262648		2203	4300	6503	SO:0001819	synonymous_variant	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.831A>G	2.37:g.128262648T>C			Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	ENST00000295321.4	37	CCDS2146.1																																																																																				0.547	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		C	128262648	T	C	128262648	2	2	337	1	0	0	0	0	0	0	0	1	7933	1838	64	3		3	IWS1	2	128262648	Silent	SNP	T	TCGA-BP-4343-01A-02D-1366-10		128262648	114936725	6	19550											
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47079155	47079155	+	Splice_Site	SNP	C	C	G			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr3:47079155C>G	ENST00000409792.3	-	18	7393		c.e18+1			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCCACACTCACCTTCATGGGG	0.463			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													135	118	123					3																	47079155		2203	4300	6503	SO:0001630	splice_region_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7350+1G>C	3.37:g.47079155C>G			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978373	0.92982	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47054159	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.703000	0.84585	2.779000	0.95612	0.591000	0.81541	.		0.463	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Intron	G	47079155	C	G	47079155	5	3	337	1	0	0	0	0	0	0	1	0	14137	521	18	4	359	4	SETD2	3	47079155	Splice_Site	SNP	C	TCGA-BP-4343-01A-02D-1366-10		47079155	150943275	7	19551											
C3orf72	401089	hgsc.bcm.edu	37	3	138669387	138669387	+	Silent	SNP	C	C	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr3:138669387C>T	ENST00000383165.3	+	3	632	c.501C>T	c.(499-501)agC>agT	p.S167S		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		167										large_intestine(1)|lung(3)	4						GCTTGGCTAGCAAAGGGAAGC	0.597																																																0													83	94	90					3																	138669387		2039	4200	6239	SO:0001819	synonymous_variant	401089																														ENST00000383165.3:c.501C>T	3.37:g.138669387C>T			A6NGX0	Silent	SNP	ENST00000383165.3	37	CCDS43155.1																																																																																				0.597	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			T	138669387	C	T	138669387	2	4	337	1	0	0	0	0	0	0	0	1	2246	709	25	2		2	C3orf72	3	138669387	Silent	SNP	C	TCGA-BP-4343-01A-02D-1366-10	91590232	138669387	59353043	8	19552											
EIF4G1	1981	hgsc.bcm.edu	37	3	184041029	184041029	+	Splice_Site	SNP	G	G	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr3:184041029G>T	ENST00000346169.2	+	14	2359	c.2088G>T	c.(2086-2088)ccG>ccT	p.P696P	EIF4G1_ENST00000434061.2_Splice_Site_p.P500P|EIF4G1_ENST00000342981.4_Splice_Site_p.P696P|EIF4G1_ENST00000350481.5_Splice_Site_p.P532P|EIF4G1_ENST00000352767.3_Splice_Site_p.P703P|EIF4G1_ENST00000382330.3_Splice_Site_p.P703P|EIF4G1_ENST00000414031.1_Splice_Site_p.P656P|EIF4G1_ENST00000427845.1_Splice_Site_p.P609P|EIF4G1_ENST00000441154.1_Splice_Site_p.P532P|EIF4G1_ENST00000435046.2_Splice_Site_p.P500P|EIF4G1_ENST00000424196.1_Splice_Site_p.P703P|EIF4G1_ENST00000392537.2_Splice_Site_p.P609P|SNORD66_ENST00000390856.1_RNA|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Splice_Site_p.P656P|EIF4G1_ENST00000319274.6_Splice_Site_p.P696P	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	696	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding.		P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.	P -> A (in Ref. 1; BAA02185). {ECO:0000305}.	cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGTGGGCCGGTGAGTGGGG	0.667																																																0													48	59	55					3																	184041029		2203	4298	6501	SO:0001630	splice_region_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2088+1G>T	3.37:g.184041029G>T			D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.667	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	Silent	T	184041029	G	T	184041029	5	4	337	1	0	0	0	0	0	0	1	0	5038	1130	39	4	2134	4	EIF4G1	3	184041029	Splice_Site	SNP	G	TCGA-BP-4343-01A-02D-1366-10	45371642	184041029	13981401	9	19553											
PPARGC1A	10891	hgsc.bcm.edu;ucsc.edu	37	4	23886513	23886513	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr4:23886513A>C	ENST00000264867.2	-	2	215	c.96T>G	c.(94-96)gaT>gaG	p.D32E	PPARGC1A_ENST00000507380.1_Missense_Mutation_p.D32E|PPARGC1A_ENST00000509702.1_5'Flank	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	32					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTTCAGGAAGATCTGGGCAAA	0.413																																					Esophageal Squamous(29;694 744 13796 34866 44181)											0													72	67	68					4																	23886513		2203	4300	6503	SO:0001583	missense	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.96T>G	4.37:g.23886513A>C	ENSP00000264867:p.Asp32Glu		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378509	0.82682	.	.	ENSG00000109819	ENST00000264867;ENST00000507380	T	0.59083	0.29	6.07	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.81112	2.525	0.48901	D	0.999727	D;D	0.89917	1.0;0.984	D;D	0.83275	0.996;0.967	T	0.77968	-0.2388	10	0.87932	D	0	-10.632	10.5449	0.45054	0.8743:0.0:0.1257:0.0	.	32;32	D6RBF3;Q9UBK2	.;PRGC1_HUMAN	E	32	ENSP00000264867:D32E	ENSP00000264867:D32E	D	-	3	2	PPARGC1A	23495611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.805000	0.55575	2.326000	0.78906	0.533000	0.62120	GAT		0.413	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		C	23886513	A	C	23886513	3	2	337	1	0	0	0	0	1	0	0	0	12302	330	12	5	2348	5	PPARGC1A	4	23886513	Missense_Mutation	SNP	A	TCGA-BP-4343-01A-02D-1366-10		23886513	167267763	10	19554											
PLEKHG4B	153478	hgsc.bcm.edu	37	5	155056	155056	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr5:155056C>A	ENST00000283426.6	+	6	1041	c.991C>A	c.(991-993)Ctc>Atc	p.L331I		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	331							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACCGCAGACCTCGACGGCTC	0.582																																																0													90	79	83					5																	155056		2203	4300	6503	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.991C>A	5.37:g.155056C>A	ENSP00000283426:p.Leu331Ile			Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	10.20	1.285256	0.23478	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.63913	-0.07;-0.07	3.88	1.19	0.21007	.	.	.	.	.	T	0.62672	0.2447	M	0.82517	2.595	0.09310	N	1	P	0.48694	0.914	B	0.44044	0.439	T	0.57093	-0.7870	9	0.66056	D	0.02	.	4.5953	0.12327	0.0:0.5458:0.0:0.4542	.	331	Q96PX9	PKH4B_HUMAN	I	331;245	ENSP00000283426:L331I;ENSP00000422493:L245I	ENSP00000283426:L331I	L	+	1	0	PLEKHG4B	208056	0.860000	0.29831	0.001000	0.08648	0.136000	0.21042	0.272000	0.18644	0.465000	0.27167	0.460000	0.39030	CTC		0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		A	155056	C	A	155056	3	1	337	1	0	0	0	0	1	0	0	0	12074	681	24	4	1013	4	PLEKHG4B	5	155056	Missense_Mutation	SNP	C	TCGA-BP-4343-01A-02D-1366-10		155056	180760204	11	19555											
SPZ1	84654	hgsc.bcm.edu;ucsc.edu	37	5	79616716	79616716	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr5:79616716G>C	ENST00000296739.4	+	1	927	c.682G>C	c.(682-684)Gaa>Caa	p.E228Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	228	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ACAAAGTCAGGAAAAAGCAAA	0.358																																																0													61	55	57					5																	79616716		1831	4084	5915	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.682G>C	5.37:g.79616716G>C	ENSP00000369611:p.Glu228Gln		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461729	0.43736	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.63417	-0.04;1.25	4.35	1.56	0.23342	.	0.650115	0.13700	N	0.368899	T	0.67135	0.2861	L	0.52905	1.665	0.09310	N	1	D	0.71674	0.998	D	0.63877	0.919	T	0.53535	-0.8425	10	0.37606	T	0.19	-8.1379	5.6908	0.17829	0.3489:0.0:0.6511:0.0	.	228	Q9BXG8	SPZ1_HUMAN	Q	228	ENSP00000426530:E228Q;ENSP00000369611:E228Q	ENSP00000369611:E228Q	E	+	1	0	SPZ1	79652472	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.224000	0.17738	0.337000	0.23665	0.563000	0.77884	GAA		0.358	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		C	79616716	G	C	79616716	3	2	337	1	0	0	0	0	1	0	0	0	15132	1175	41	4	684	4	SPZ1	5	79616716	Missense_Mutation	SNP	G	TCGA-BP-4343-01A-02D-1366-10	79461660	79616716	101298544	12	19556											
MAML1	9794	hgsc.bcm.edu	37	5	179201298	179201298	+	Missense_Mutation	SNP	C	C	T	rs61753466	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr5:179201298C>T	ENST00000292599.3	+	5	2734	c.2471C>T	c.(2470-2472)cCg>cTg	p.P824L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAAAGCCACCGGTCCCAAGG	0.597													C|||	19	0.00379393	0.0	0.0072	5008	,	,		17023	0.0		0.0139	False		,,,				2504	0.0															0								C	LEU/PRO	9,4397	15.5+/-35.6	0,9,2194	40	37	38		2471	0.7	0.9	5	dbSNP_129	38	96,8504	52.3+/-112.8	0,96,4204	yes	missense	MAML1	NM_014757.4	98	0,105,6398	TT,TC,CC		1.1163,0.2043,0.8073	benign	824/1017	179201298	105,12901	2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2471C>T	5.37:g.179201298C>T	ENSP00000292599:p.Pro824Leu			Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	11	0.005036630036630037	1	0.0020325203252032522	4	0.011049723756906077	0	0.0	6	0.0079155672823219	C	7.063	0.566738	0.13560	0.002043	0.011163	ENSG00000161021	ENST00000292599	T	0.22539	1.95	4.94	0.661	0.17874	.	0.360529	0.26971	N	0.021575	T	0.07052	0.0179	N	0.08118	0	0.28627	N	0.90788	B	0.26041	0.14	B	0.15870	0.014	T	0.13710	-1.0499	10	0.44086	T	0.13	-3.3956	13.5267	0.61599	0.6005:0.3995:0.0:0.0	rs61753466	824	Q92585	MAML1_HUMAN	L	824	ENSP00000292599:P824L	ENSP00000292599:P824L	P	+	2	0	MAML1	179133904	1.000000	0.71417	0.910000	0.35882	0.113000	0.19764	2.609000	0.46317	0.225000	0.20959	-0.521000	0.04368	CCG		0.597	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		T	179201298	C	T	179201298	3	4	337	1	0	0	0	0	1	0	0	0	9207	652	23	1	2489	1	MAML1	5	179201298	Missense_Mutation	SNP	C	TCGA-BP-4343-01A-02D-1366-10	99584582	179201298	1713962	13	19557											
MOCS1	4337	hgsc.bcm.edu	37	6	39895231	39895231	+	Intron	SNP	G	G	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr6:39895231G>T	ENST00000340692.5	-	2	127				MOCS1_ENST00000425303.2_Missense_Mutation_p.S29R|MOCS1_ENST00000373186.4_Missense_Mutation_p.S29R|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000373175.4_Intron|MOCS1_ENST00000373188.2_Intron|MOCS1_ENST00000432280.2_Intron|MOCS1_ENST00000373195.3_Intron			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1						Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATGGGCCCCTGCTACCGGGCT	0.637																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)											0													41	39	40					6																	39895231		2201	4298	6499	SO:0001627	intron_variant	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.124-37C>A	6.37:g.39895231G>T			B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37		.	.	.	.	.	.	.	.	.	.	G	7.128	0.579309	0.13686	.	.	ENSG00000124615	ENST00000373186;ENST00000425303	T	0.31247	1.5	3.81	3.81	0.43845	.	.	.	.	.	T	0.09247	0.0228	.	.	.	0.80722	D	1	B;B	0.17038	0.02;0.002	B;B	0.15870	0.014;0.003	T	0.07597	-1.0764	7	.	.	.	.	11.4849	0.50348	0.0:0.0:1.0:0.0	.	29;29	Q9NZB8-8;Q9NZB8-6	.;.	R	29	ENSP00000416478:S29R	.	S	-	3	2	MOCS1	40003209	0.004000	0.15560	0.005000	0.12908	0.001000	0.01503	0.926000	0.28804	2.416000	0.81992	0.561000	0.74099	AGC		0.637	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		T	39895231	G	T	39895231	1	4	337	0	1	0	0	0	0	0	0	0	9692	1310	46	4		4	MOCS1	6	39895231	Intron	SNP	G	TCGA-BP-4343-01A-02D-1366-10		39895231	131219836	14	19558											
SLC35B2	347734	hgsc.bcm.edu	37	6	44223195	44223195	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr6:44223195T>C	ENST00000393812.3	-	4	690	c.547A>G	c.(547-549)Atg>Gtg	p.M183V	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Missense_Mutation_p.M50V|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.M90V	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	183					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACCGGTACATGGGTGCCCCA	0.577																																																0													96	104	101					6																	44223195		2203	4300	6503	SO:0001583	missense	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.547A>G	6.37:g.44223195T>C	ENSP00000377401:p.Met183Val		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371684	0.61624	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.28454	1.61;1.61;1.61	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.17323	0.0416	L	0.40543	1.245	0.80722	D	1	B;B	0.25904	0.014;0.137	B;B	0.30401	0.032;0.115	T	0.03695	-1.1012	10	0.35671	T	0.21	-15.4946	16.104	0.81205	0.0:0.0:0.0:1.0	.	90;183	F5H7Y9;Q8TB61	.;S35B2_HUMAN	V	183;50;90;183	ENSP00000377401:M183V;ENSP00000440340:M50V;ENSP00000443845:M90V	ENSP00000342455:M183V	M	-	1	0	SLC35B2	44331173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.210000	0.72176	2.216000	0.71823	0.454000	0.30748	ATG		0.577	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			C	44223195	T	C	44223195	3	2	337	1	0	0	0	0	1	0	0	0	14582	1464	51	3	755	3	SLC35B2	6	44223195	Missense_Mutation	SNP	T	TCGA-BP-4343-01A-02D-1366-10	4327964	44223195	126891872	15	19559											
TRHR	7201	hgsc.bcm.edu	37	8	110100374	110100374	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr8:110100374T>A	ENST00000518632.1	+	2	984	c.633T>A	c.(631-633)taT>taA	p.Y211*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.Y211*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	211					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCGTCCTCTATGGATTCATAG	0.393																																																0													105	99	101					8																	110100374		2203	4300	6503	SO:0001587	stop_gained	7201				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.633T>A	8.37:g.110100374T>A	ENSP00000430711:p.Tyr211*		Q2M339	Nonsense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	T	36	5.736728	0.96865	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	.	.	.	6.17	1.0	0.19881	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1098	9.952	0.41645	0.0:0.2554:0.0:0.7446	.	.	.	.	X	211	.	ENSP00000309818:Y211X	Y	+	3	2	TRHR	110169550	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	1.388000	0.34442	-0.049000	0.13379	0.533000	0.62120	TAT		0.393	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			A	110100374	T	A	110100374	4	1	337	1	0	0	0	0	0	1	0	0	16485	1471	51	5	635	5	TRHR	8	110100374	Nonsense_Mutation	SNP	T	TCGA-BP-4343-01A-02D-1366-10		110100374	36263648	16	19560											
JAK2	3717	hgsc.bcm.edu	37	9	5072549	5072549	+	Missense_Mutation	SNP	G	G	T	rs552162949		TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr9:5072549G>T	ENST00000381652.3	+	13	2193	c.1699G>T	c.(1699-1701)Gta>Tta	p.V567L	JAK2_ENST00000539801.1_Missense_Mutation_p.V567L|JAK2_ENST00000544510.1_Missense_Mutation_p.V418L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	567	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACGAAGAGAAGTAGGAGACTA	0.353		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	0													68	69	69					9																	5072549		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1699G>T	9.37:g.5072549G>T	ENSP00000371067:p.Val567Leu		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	7.210	0.595231	0.13875	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.32023	1.47;1.47;1.47	5.56	1.11	0.20524	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.423794	0.26887	N	0.021995	T	0.11623	0.0283	N	0.04335	-0.225	0.39342	D	0.965594	B	0.02656	0.0	B	0.08055	0.003	T	0.11012	-1.0605	10	0.26408	T	0.33	-8.1033	6.3322	0.21276	0.3453:0.1274:0.5273:0.0	.	567	O60674	JAK2_HUMAN	L	567;567;418	ENSP00000440387:V567L;ENSP00000371067:V567L;ENSP00000443103:V418L	ENSP00000371067:V567L	V	+	1	0	JAK2	5062549	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.804000	0.38873	0.313000	0.23062	0.585000	0.79938	GTA		0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			T	5072549	G	T	5072549	3	4	337	1	0	0	0	0	1	0	0	0	7940	1029	36	4	1741	4	JAK2	9	5072549	Missense_Mutation	SNP	G	TCGA-BP-4343-01A-02D-1366-10		5072549	136140882	17	19561											
GATA3	2625	hgsc.bcm.edu;ucsc.edu	37	10	8115905	8115905	+	Silent	SNP	C	C	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr10:8115905C>T	ENST00000346208.3	+	6	1706	c.1251C>T	c.(1249-1251)acC>acT	p.T417T	GATA3_ENST00000379328.3_Silent_p.T418T|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	417					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.T419fs*28(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACATGCTGACCACGCCCACGC	0.627			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	breast(1)											97	85	89					10																	8115905		2203	4300	6503	SO:0001819	synonymous_variant	2625			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1251C>T	10.37:g.8115905C>T			Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	CCDS7083.1																																																																																				0.627	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		T	8115905	C	T	8115905	2	4	337	1	0	0	0	0	0	0	0	1	6257	581	21	2		2	GATA3	10	8115905	Silent	SNP	C	TCGA-BP-4343-01A-02D-1366-10		8115905	127418842	18	19562											
ZNF365	22891	hgsc.bcm.edu;ucsc.edu	37	10	64159446	64159446	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr10:64159446C>G	ENST00000395254.3	+	5	1402	c.1122C>G	c.(1120-1122)tgC>tgG	p.C374W	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAGACCTCTGCAGACCTCCAA	0.522																																																0													85	85	85					10																	64159446		2203	4300	6503	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1122C>G	10.37:g.64159446C>G	ENSP00000378674:p.Cys374Trp			Missense_Mutation	SNP	ENST00000395254.3	37	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	9.917	1.211140	0.22289	.	.	ENSG00000138311	ENST00000395254	T	0.41065	1.01	5.76	3.86	0.44501	.	.	.	.	.	T	0.16171	0.0389	N	0.04203	-0.255	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11891	-1.0569	9	0.05436	T	0.98	.	7.5414	0.27740	0.0:0.6128:0.2893:0.0979	.	374;389	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	W	374	ENSP00000378674:C374W	ENSP00000378674:C374W	C	+	3	2	ZNF365	63829452	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.309000	0.43699	1.432000	0.47375	0.650000	0.86243	TGC		0.522	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		G	64159446	C	G	64159446	3	3	337	1	0	0	0	0	1	0	0	0	17874	718	25	4	1136	4	ZNF365	10	64159446	Missense_Mutation	SNP	C	TCGA-BP-4343-01A-02D-1366-10	56043541	64159446	71375301	19	19563											
TET1	80312	hgsc.bcm.edu	37	10	70450818	70450818	+	Silent	SNP	A	A	G			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr10:70450818A>G	ENST00000373644.4	+	12	5867	c.5658A>G	c.(5656-5658)ggA>ggG	p.G1886G		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1886					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGCCTTCGGGAAGACTCAGTG	0.572																																																0													74	67	69					10																	70450818		2203	4300	6503	SO:0001819	synonymous_variant	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5658A>G	10.37:g.70450818A>G			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																				0.572	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		G	70450818	A	G	70450818	2	3	337	1	0	0	0	0	0	0	0	1	15774	233	9	3		3	TET1	10	70450818	Silent	SNP	A	TCGA-BP-4343-01A-02D-1366-10	6291372	70450818	65083929	20	19564											
C10orf79	80217	hgsc.bcm.edu;ucsc.edu	37	10	105893489	105893489	+	Silent	SNP	T	T	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr10:105893489T>C	ENST00000357060.3	-	35	4600	c.4485A>G	c.(4483-4485)aaA>aaG	p.K1495K	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.K1467K	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAAGTATTCTTTTGTGTACAT	0.323																																																0													180	164	169					10																	105893489		2202	4300	6502	SO:0001819	synonymous_variant	0																														ENST00000357060.3:c.4485A>G	10.37:g.105893489T>C				Silent	SNP	ENST00000357060.3	37	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	T	8.939	0.965299	0.18583	.	.	ENSG00000197748	ENST00000457071;ENST00000434629	T	0.47177	0.85	5.61	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51872	-0.8650	7	0.66056	D	0.02	.	5.6143	0.17422	0.1257:0.1515:0.0:0.7228	.	.	.	.	R	344;827	ENSP00000391364:K827R	ENSP00000391364:K827R	K	-	2	0	WDR96	105883479	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.106000	0.41835	0.946000	0.37632	0.528000	0.53228	AAA		0.323	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	105893489	T	C	105893489	2	2	337	1	0	0	0	0	0	0	0	1	1620	1838	64	3		3	C10orf79	10	105893489	Silent	SNP	T	TCGA-BP-4343-01A-02D-1366-10	35442671	105893489	29641258	21	19565											
VENTX	27287	hgsc.bcm.edu	37	10	135053527	135053527	+	Missense_Mutation	SNP	C	C	T	rs150065198	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr10:135053527C>T	ENST00000325980.9	+	3	1005	c.494C>T	c.(493-495)gCg>gTg	p.A165V		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	165					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TCTCTCCATGCGCCCCCAGCT	0.597																																																0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	47	52	50		494	-0.6	0	10	dbSNP_134	50	3,8597	3.0+/-9.4	0,3,4297	yes	missense	VENTX	NM_014468.2	64	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	165/259	135053527	4,13002	2203	4300	6503	SO:0001583	missense	27287			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.494C>T	10.37:g.135053527C>T	ENSP00000357556:p.Ala165Val		Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	2.166	-0.390981	0.04932	2.27E-4	3.49E-4	ENSG00000151650	ENST00000325980	D	0.91237	-2.81	2.68	-0.57	0.11753	.	1.766420	0.03653	N	0.241412	T	0.76919	0.4055	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.65689	-0.6107	10	0.17369	T	0.5	.	6.0163	0.19605	0.0:0.6695:0.1938:0.1367	.	165	O95231	VENTX_HUMAN	V	165	ENSP00000357556:A165V	ENSP00000357556:A165V	A	+	2	0	VENTX	134903517	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.976000	0.03786	-0.269000	0.09298	-1.426000	0.01102	GCG		0.597	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		T	135053527	C	T	135053527	3	4	337	1	0	0	0	0	1	0	0	0	17158	768	27	1	504	1	VENTX	10	135053527	Missense_Mutation	SNP	C	TCGA-BP-4343-01A-02D-1366-10	29160038	135053527	481220	22	19566											
ZP1	22917	hgsc.bcm.edu	37	11	60637829	60637829	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr11:60637829G>A	ENST00000278853.5	+	4	707	c.707G>A	c.(706-708)tGc>tAc	p.C236Y		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	236	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGGAGCAGTGCCAGGTGGCC	0.557																																																0													50	46	47					11																	60637829		2203	4299	6502	SO:0001583	missense	22917			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.707G>A	11.37:g.60637829G>A	ENSP00000278853:p.Cys236Tyr			Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631459	0.46944	.	.	ENSG00000149506	ENST00000278853	T	0.44083	0.93	4.93	4.93	0.64822	P-type trefoil (3);	0.000000	0.47455	D	0.000239	T	0.62454	0.2429	M	0.67953	2.075	0.53005	D	0.999963	D	0.67145	0.996	D	0.69824	0.966	T	0.66779	-0.5837	10	0.87932	D	0	-24.8083	15.914	0.79496	0.0:0.0:1.0:0.0	.	236	P60852	ZP1_HUMAN	Y	236	ENSP00000278853:C236Y	ENSP00000278853:C236Y	C	+	2	0	ZP1	60394405	0.996000	0.38824	0.959000	0.39883	0.192000	0.23643	2.778000	0.47726	2.281000	0.76405	0.467000	0.42956	TGC		0.557	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		A	60637829	G	A	60637829	3	1	337	1	0	0	0	0	1	0	0	0	18220	1319	46	2	721	2	ZP1	11	60637829	Missense_Mutation	SNP	G	TCGA-BP-4343-01A-02D-1366-10		60637829	74368687	23	19567											
KIF21A	55605	hgsc.bcm.edu	37	12	39695437	39695437	+	Silent	SNP	C	C	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr12:39695437C>A	ENST00000361418.5	-	37	4791	c.4776G>T	c.(4774-4776)gtG>gtT	p.V1592V	KIF21A_ENST00000361961.3_Silent_p.V1579V|KIF21A_ENST00000395670.3_Silent_p.V1593V|KIF21A_ENST00000541463.2_Silent_p.V1539V|KIF21A_ENST00000544797.2_Silent_p.V1555V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1592					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1579V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGTCTGGCACCACTCCCAGGG	0.463																																																1	Substitution - coding silent(1)	ovary(1)											134	138	137					12																	39695437		2203	4300	6503	SO:0001819	synonymous_variant	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4776G>T	12.37:g.39695437C>A			A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	6.071	0.381317	0.11466	.	.	ENSG00000139116	ENST00000552961	.	.	.	4.43	3.54	0.40534	.	.	.	.	.	T	0.57902	0.2085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51325	-0.8720	4	.	.	.	.	8.3139	0.32088	0.0:0.7135:0.1315:0.1549	.	.	.	.	L	893	.	.	W	-	2	0	KIF21A	37981704	0.983000	0.35010	0.992000	0.48379	0.885000	0.51271	0.720000	0.25896	0.509000	0.28195	-0.813000	0.03139	TGG		0.463	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		A	39695437	C	A	39695437	2	1	337	1	0	0	0	0	0	0	0	1	8290	581	21	4		4	KIF21A	12	39695437	Silent	SNP	C	TCGA-BP-4343-01A-02D-1366-10		39695437	94156458	24	19568											
CDK4	1019	hgsc.bcm.edu;ucsc.edu	37	12	58144726	58144726	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr12:58144726G>C	ENST00000257904.6	-	4	867	c.502C>G	c.(502-504)Cag>Gag	p.Q168E	CDK4_ENST00000551888.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.Q48E|CDK4_ENST00000549606.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGTGCCATCTGGTAGCTGTAG	0.498			Mis			melanoma			Hereditary Melanoma																													yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0													116	113	114					12																	58144726		2203	4300	6503	SO:0001583	missense	1019	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"Cyclin-dependent kinases"	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.502C>G	12.37:g.58144726G>C	ENSP00000257904:p.Gln168Glu		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275879	0.40294	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388	T;T;T;T;T;T;T	0.68479	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.33	4.66	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057896	0.64402	D	0.000001	T	0.50292	0.1607	N	0.10972	0.075	0.80722	D	1	B	0.24317	0.101	B	0.22880	0.042	T	0.54309	-0.8313	10	0.87932	D	0	.	16.8541	0.86001	0.0:0.0:1.0:0.0	.	168	P11802	CDK4_HUMAN	E	168;48;94;94;94;168;168	ENSP00000257904:Q168E;ENSP00000439076:Q48E;ENSP00000447779:Q94E;ENSP00000447274:Q94E;ENSP00000449391:Q94E;ENSP00000449179:Q168E;ENSP00000448963:Q168E	ENSP00000257904:Q168E	Q	-	1	0	CDK4	56430993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.365000	0.97139	2.581000	0.87130	0.655000	0.94253	CAG		0.498	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		C	58144726	G	C	58144726	3	2	337	1	0	0	0	0	1	0	0	0	3143	1357	47	4	429	4	CDK4	12	58144726	Missense_Mutation	SNP	G	TCGA-BP-4343-01A-02D-1366-10	18449289	58144726	75707169	25	19569											
TRPM1	4308	hgsc.bcm.edu;ucsc.edu	37	15	31355418	31355418	+	Silent	SNP	G	G	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr15:31355418G>A	ENST00000256552.6	-	8	1015	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Silent_p.L268L|TRPM1_ENST00000542188.1_Silent_p.L307L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCTTCTTGCAGGTATTCCAAG	0.597																																																0													80	90	87					15																	31355418		2060	4199	6259	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.868C>T	15.37:g.31355418G>A				Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																				0.597	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		A	31355418	G	A	31355418	2	1	337	1	0	0	0	0	0	0	0	1	16590	991	35	2		2	TRPM1	15	31355418	Silent	SNP	G	TCGA-BP-4343-01A-02D-1366-10		31355418	71175974	26	19570											
ATP2C2	9914	hgsc.bcm.edu	37	16	84495698	84495698	+	Silent	SNP	G	G	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr16:84495698G>C	ENST00000262429.4	+	26	2774	c.2685G>C	c.(2683-2685)ctG>ctC	p.L895L	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Silent_p.L924L|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	895					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCCCCCCGCTGCAGAGGGTCT	0.622																																																0													75	83	81					16																	84495698		1950	4145	6095	SO:0001819	synonymous_variant	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2685G>C	16.37:g.84495698G>C			B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	CCDS42207.1																																																																																				0.622	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		C	84495698	G	C	84495698	2	2	337	1	0	0	0	0	0	0	0	1	1144	1306	46	4		4	ATP2C2	16	84495698	Silent	SNP	G	TCGA-BP-4343-01A-02D-1366-10		84495698	5859055	27	19571											
SLC13A2	9058	hgsc.bcm.edu	37	17	26817926	26817926	+	Splice_Site	SNP	T	T	G			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr17:26817926T>G	ENST00000314669.5	+	4	994		c.e4+2		SLC13A2_ENST00000444914.3_Splice_Site|SLC13A2_ENST00000545060.1_Splice_Site|SLC13A2_ENST00000537681.1_Splice_Site	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2						dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAAGCTTGGTGAGAAAAATG	0.577																																																0													47	39	42					17																	26817926		2203	4300	6503	SO:0001630	splice_region_variant	9058			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.574+2T>G	17.37:g.26817926T>G			B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Splice_Site	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.496429	0.44352	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	.	.	.	5.31	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1273	0.31005	0.0:0.0934:0.0:0.9066	.	.	.	.	.	-1	.	.	.	+	.	.	SLC13A2	23842053	0.987000	0.35691	1.000000	0.80357	0.614000	0.37383	1.521000	0.35910	0.826000	0.34661	0.528000	0.53228	.		0.577	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	Intron	G	26817926	T	G	26817926	5	3	337	1	0	0	0	0	0	0	1	0	14398	1710	59	5	737	5	SLC13A2	17	26817926	Splice_Site	SNP	T	TCGA-BP-4343-01A-02D-1366-10		26817926	54377284	28	19572											
EHD2	30846	hgsc.bcm.edu	37	19	48239721	48239721	+	Silent	SNP	C	C	A	rs141588825		TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr19:48239721C>A	ENST00000263277.3	+	5	1262	c.1011C>A	c.(1009-1011)gtC>gtA	p.V337V	EHD2_ENST00000538399.1_Silent_p.V201V|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	337					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.V337V(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AACTGCCCGTCATCTTTGCGA	0.517																																																1	Substitution - coding silent(1)	skin(1)											155	132	140					19																	48239721		2203	4300	6503	SO:0001819	synonymous_variant	30846			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1011C>A	19.37:g.48239721C>A			B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	CCDS12704.1																																																																																				0.517	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			A	48239721	C	A	48239721	2	1	337	1	0	0	0	0	0	0	0	1	4980	813	29	4		4	EHD2	19	48239721	Silent	SNP	C	TCGA-BP-4343-01A-02D-1366-10		48239721	10889262	29	19573											
TMC4	147798	hgsc.bcm.edu	37	19	54675643	54675643	+	Missense_Mutation	SNP	G	G	A	rs77215230	byFrequency	TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr19:54675643G>A	ENST00000376591.4	-	2	438	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	TMC4_ENST00000301187.4_Missense_Mutation_p.H97Y|TMC4_ENST00000476013.2_5'UTR	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	103					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTCACCTGTGTGCCCGTCTG	0.667													G|||	628	0.125399	0.1437	0.1037	5008	,	,		14679	0.0367		0.1183	False		,,,				2504	0.2147															0								G	TYR/HIS,TYR/HIS	733,3673	300.1+/-286.2	57,619,1527	82	82	82		307,289	2.7	1	19	dbSNP_131	82	1016,7584	218.7+/-257.0	60,896,3344	no	missense,missense	TMC4	NM_001145303.1,NM_144686.2	83,83	117,1515,4871	AA,AG,GG		11.814,16.6364,13.4476	possibly-damaging,possibly-damaging	103/713,97/707	54675643	1749,11257	2203	4300	6503	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.307C>T	19.37:g.54675643G>A	ENSP00000365776:p.His103Tyr		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	229	0.10485347985347986	73	0.1483739837398374	43	0.11878453038674033	23	0.04020979020979021	90	0.11873350923482849	G	2.669	-0.278009	0.05679	0.166364	0.11814	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.76709	0.78;0.78;-1.04	3.8	2.74	0.32292	.	2.664940	0.01530	U	0.018756	T	0.00496	0.0016	M	0.62723	1.935	0.09310	P	0.999999670532	P;B	0.36199	0.543;0.27	B;B	0.36186	0.096;0.219	T	0.34279	-0.9835	9	0.07990	T	0.79	.	6.7276	0.23365	0.1323:0.0:0.8677:0.0	rs11538074	103;97	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	Y	97;103;7	ENSP00000301187:H97Y;ENSP00000365776:H103Y;ENSP00000416444:H7Y	ENSP00000301187:H97Y	H	-	1	0	TMC4	59367455	0.956000	0.32656	0.997000	0.53966	0.954000	0.61252	1.583000	0.36579	1.908000	0.55244	0.435000	0.28638	CAC		0.667	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			A	54675643	G	A	54675643	3	1	337	1	0	0	0	0	1	0	0	0	15992	1377	48	2	1887	2	TMC4	19	54675643	Missense_Mutation	SNP	G	TCGA-BP-4343-01A-02D-1366-10	6435922	54675643	4453340	30	19574											
CHRNA4	1137	hgsc.bcm.edu	37	20	61987735	61987735	+	Silent	SNP	T	T	C			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr20:61987735T>C	ENST00000370263.4	-	3	482	c.261A>G	c.(259-261)gtA>gtG	p.V87V	CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	87					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCTTCACCCATACGTTCGTGG	0.642																																																0													64	45	51					20																	61987735		2198	4291	6489	SO:0001819	synonymous_variant	1137				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.261A>G	20.37:g.61987735T>C			Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	CCDS13517.1																																																																																				0.642	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			C	61987735	T	C	61987735	2	2	337	1	0	0	0	0	0	0	0	1	3387	1393	49	3		3	CHRNA4	20	61987735	Silent	SNP	T	TCGA-BP-4343-01A-02D-1366-10		61987735	1037785	31	19575											
TRAPPC10	7109	hgsc.bcm.edu;ucsc.edu	37	21	45502925	45502925	+	Silent	SNP	G	G	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chr21:45502925G>A	ENST00000291574.4	+	14	2155	c.1980G>A	c.(1978-1980)gaG>gaA	p.E660E		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	660					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTCCACCCGAGACCGCACCTT	0.488																																																0													144	139	141					21																	45502925		2203	4300	6503	SO:0001819	synonymous_variant	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1980G>A	21.37:g.45502925G>A			Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	CCDS13704.1																																																																																				0.488	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		A	45502925	G	A	45502925	2	1	337	1	0	0	0	0	0	0	0	1	16462	933	33	2		2	TRAPPC10	21	45502925	Silent	SNP	G	TCGA-BP-4343-01A-02D-1366-10		45502925	2626970	32	19576											
PHKA2	5256	hgsc.bcm.edu	37	X	18926100	18926100	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chrX:18926100C>T	ENST00000379942.4	-	22	3100	c.2435G>A	c.(2434-2436)gGg>gAg	p.G812E		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	812	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCCGGCTTTCCCATAGAGCTC	0.552																																																0													192	175	181					X																	18926100		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2435G>A	X.37:g.18926100C>T	ENSP00000369274:p.Gly812Glu		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	0.250	-1.007395	0.02112	.	.	ENSG00000044446	ENST00000379942	D	0.87571	-2.27	5.78	4.0	0.46444	Glycoside hydrolase 15-related (1);	0.702515	0.15273	N	0.271121	T	0.69106	0.3074	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.50162	-0.8860	10	0.02654	T	1	-5.2331	11.2992	0.49295	0.0:0.8065:0.1232:0.0702	.	812	P46019	KPB2_HUMAN	E	812	ENSP00000369274:G812E	ENSP00000369274:G812E	G	-	2	0	PHKA2	18836021	0.013000	0.17824	0.386000	0.26170	0.591000	0.36615	1.112000	0.31172	0.673000	0.31224	0.600000	0.82982	GGG		0.552	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		T	18926100	C	T	18926100	3	4	337	1	0	0	0	0	1	0	0	0	11846	623	22	2	1320	2	PHKA2	23	18926100	Missense_Mutation	SNP	C	TCGA-BP-4343-01A-02D-1366-10		18926100	136344460	33	19577											
IL1RAPL2	26280	hgsc.bcm.edu;ucsc.edu	37	X	104961395	104961395	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4343-01A-02D-1366-10	TCGA-BP-4343-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7195f58b-26ad-4015-af27-07f1c578b3ab	488a3842-7fc6-401c-b901-2cae0e89a9de	g.chrX:104961395G>A	ENST00000372582.1	+	7	1564	c.808G>A	c.(808-810)Gga>Aga	p.G270R	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G270R	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	270	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCATTCTTCGGATTCAGTGG	0.438																																																0													159	150	153					X																	104961395		2203	4300	6503	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.808G>A	X.37:g.104961395G>A	ENSP00000361663:p.Gly270Arg		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665623	0.88251	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03663	3.85;3.85	5.32	5.32	0.75619	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.19406	0.0466	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00320	-1.1820	10	0.54805	T	0.06	.	16.8989	0.86108	0.0:0.0:1.0:0.0	.	270	Q9NP60	IRPL2_HUMAN	R	270	ENSP00000361663:G270R;ENSP00000344976:G270R	ENSP00000344976:G270R	G	+	1	0	IL1RAPL2	104848051	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.367000	0.97148	2.197000	0.70478	0.506000	0.49869	GGA		0.438	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		A	104961395	G	A	104961395	3	1	337	1	0	0	0	0	1	0	0	0	7664	1117	39	1	830	1	IL1RAPL2	23	104961395	Missense_Mutation	SNP	G	TCGA-BP-4343-01A-02D-1366-10	86035295	104961395	50309165	34	19578											
CCDC17	149483	hgsc.bcm.edu	37	1	46086449	46086449	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr1:46086449C>G	ENST00000528266.1	-	12	1803	c.1656G>C	c.(1654-1656)caG>caC	p.Q552H	CCDC17_ENST00000421127.2_Missense_Mutation_p.Q543H|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.Q520H|CCDC17_ENST00000464739.1_5'Flank			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	552										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CTGCCAGTGTCTGTACAGCTG	0.542																																																0													102	81	88					1																	46086449		2203	4300	6503	SO:0001583	missense	149483				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1656G>C	1.37:g.46086449C>G	ENSP00000432172:p.Gln552His		A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	CCDS44131.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050168	0.75846	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.42131	0.98;0.98;0.98	5.92	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.63438	0.2511	M	0.69823	2.125	0.39047	D	0.96024	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.69771	-0.5055	10	0.72032	D	0.01	-27.0807	14.0439	0.64693	0.0:0.9266:0.0:0.0734	.	552;543;520	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	H	543;520;552	ENSP00000389415:Q543H;ENSP00000341451:Q520H;ENSP00000432172:Q552H	ENSP00000341451:Q520H	Q	-	3	2	CCDC17	45859036	0.959000	0.32827	0.995000	0.50966	0.882000	0.50991	1.910000	0.39927	1.509000	0.48786	0.655000	0.94253	CAG		0.542	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		G	46086449	C	G	46086449	3	3	338	1	0	0	0	0	1	0	0	0	2795	912	32	4	220	4	CCDC17	1	46086449	Missense_Mutation	SNP	C	TCGA-BP-4345-01A-01D-1366-10		46086449	203164172	1	19579											
OR6N1	128372	hgsc.bcm.edu;ucsc.edu	37	1	158735712	158735712	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr1:158735712C>A	ENST00000335094.2	-	1	780	c.761G>T	c.(760-762)aGc>aTc	p.S254I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGAAAGGATGCTCCCATAGAA	0.542																																																0													178	167	171					1																	158735712		2203	4300	6503	SO:0001583	missense	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.761G>T	1.37:g.158735712C>A	ENSP00000335535:p.Ser254Ile		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750127	0.30955	.	.	ENSG00000197403	ENST00000335094	T	0.00179	8.61	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.00241	0.0007	M	0.67953	2.075	0.09310	N	1	D	0.65815	0.995	D	0.68621	0.959	T	0.41662	-0.9496	10	0.87932	D	0	-17.7678	12.5186	0.56046	0.0:0.8314:0.1686:0.0	.	254	Q8NGY5	OR6N1_HUMAN	I	254	ENSP00000335535:S254I	ENSP00000335535:S254I	S	-	2	0	OR6N1	157002336	0.000000	0.05858	1.000000	0.80357	0.345000	0.29048	0.607000	0.24209	2.432000	0.82394	0.655000	0.94253	AGC		0.542	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		A	158735712	C	A	158735712	3	1	338	1	0	0	0	0	1	0	0	0	11208	797	28	4	180	4	OR6N1	1	158735712	Missense_Mutation	SNP	C	TCGA-BP-4345-01A-01D-1366-10	112649263	158735712	90514909	2	19580											
TRIM58	25893	hgsc.bcm.edu	37	1	248039262	248039262	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr1:248039262G>T	ENST00000366481.3	+	6	980	c.932G>T	c.(931-933)cGc>cTc	p.R311L	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	311	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCGACCTGCGCAGTGTGCAG	0.572																																																0													87	81	83					1																	248039262		2203	4300	6503	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.932G>T	1.37:g.248039262G>T	ENSP00000355437:p.Arg311Leu		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130000	0.37630	.	.	ENSG00000162722	ENST00000366481	T	0.13196	2.61	3.82	1.96	0.26148	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.256461	0.28187	N	0.016276	T	0.17280	0.0415	L	0.43923	1.385	0.19300	N	0.999978	P	0.47841	0.901	P	0.53401	0.725	T	0.03587	-1.1022	10	0.54805	T	0.06	.	5.8484	0.18679	0.3259:0.0:0.6741:0.0	.	311	Q8NG06	TRI58_HUMAN	L	311	ENSP00000355437:R311L	ENSP00000355437:R311L	R	+	2	0	TRIM58	246105885	0.030000	0.19436	0.296000	0.24974	0.367000	0.29736	1.994000	0.40757	0.615000	0.30124	0.555000	0.69702	CGC		0.572	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		T	248039262	G	T	248039262	3	4	338	1	0	0	0	0	1	0	0	0	16536	1087	38	4	954	4	TRIM58	1	248039262	Missense_Mutation	SNP	G	TCGA-BP-4345-01A-01D-1366-10	89303550	248039262	1211359	3	19581											
RNF144A	9781	hgsc.bcm.edu	37	2	7160712	7160712	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr2:7160712C>A	ENST00000320892.6	+	6	852	c.410C>A	c.(409-411)gCc>gAc	p.A137D	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	137					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A137V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CAGTGCAAAGCCTGCCGTATG	0.652																																																1	Substitution - Missense(1)	kidney(1)											76	75	75					2																	7160712		2203	4300	6503	SO:0001583	missense	9781			D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.410C>A	2.37:g.7160712C>A	ENSP00000321330:p.Ala137Asp		D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.57|15.57	2.871754|2.871754	0.51695|0.51695	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000320892;ENST00000427092|ENST00000432850	T|.	0.80566|.	-1.39|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Zinc finger, C6HC-type (2);|.	0.099263|.	0.64402|.	D|.	0.000001|.	T|T	0.63022|0.63022	0.2476|0.2476	L|L	0.50333|0.50333	1.59|1.59	0.48571|0.48571	D|D	0.999672|0.999672	P|.	0.41131|.	0.739|.	B|.	0.44044|.	0.439|.	T|T	0.59568|0.59568	-0.7430|-0.7430	10|5	0.18276|.	T|.	0.48|.	.|.	14.4|14.4	0.67037|0.67037	0.0:0.9266:0.0:0.0734|0.0:0.9266:0.0:0.0734	.|.	137|.	P50876|.	R144A_HUMAN|.	D|T	137|133	ENSP00000321330:A137D|.	ENSP00000321330:A137D|.	A|P	+|+	2|1	0|0	RNF144A|RNF144A	7078163|7078163	0.990000|0.990000	0.36364|0.36364	0.958000|0.958000	0.39756|0.39756	0.896000|0.896000	0.52359|0.52359	2.700000|2.700000	0.47085|0.47085	2.600000|2.600000	0.87896|0.87896	0.561000|0.561000	0.74099|0.74099	GCC|CCT		0.652	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		A	7160712	C	A	7160712	3	1	338	1	0	0	0	0	1	0	0	0	13451	739	26	4	424	4	RNF144A	2	7160712	Missense_Mutation	SNP	C	TCGA-BP-4345-01A-01D-1366-10		7160712	236038661	4	19582											
ZDBF2	57683	hgsc.bcm.edu;ucsc.edu	37	2	207169576	207169576	+	Silent	SNP	C	C	G	rs199768532	byFrequency	TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr2:207169576C>G	ENST00000374423.3	+	5	710	c.324C>G	c.(322-324)tcC>tcG	p.S108S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	108							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGAGACCATCCGAGGTTTCAG	0.448																																																0													80	77	78					2																	207169576		1946	4149	6095	SO:0001819	synonymous_variant	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.324C>G	2.37:g.207169576C>G			Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																				0.448	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		G	207169576	C	G	207169576	2	3	338	1	0	0	0	0	0	0	0	1	17604	639	23	4		4	ZDBF2	2	207169576	Silent	SNP	C	TCGA-BP-4345-01A-01D-1366-10	200008864	207169576	36029797	5	19583											
DNER	92737	hgsc.bcm.edu	37	2	230231641	230231641	+	Missense_Mutation	SNP	G	G	T	rs549129843		TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr2:230231641G>T	ENST00000341772.4	-	12	2184	c.2050C>A	c.(2050-2052)Cgc>Agc	p.R684S		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	684					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCGATGCTGCGGCAGTTGTAG	0.562																																																0													65	60	62					2																	230231641		2203	4300	6503	SO:0001583	missense	92737			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.2050C>A	2.37:g.230231641G>T	ENSP00000345229:p.Arg684Ser		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117717	0.77323	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86230	-2.09	5.93	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.88269	0.6391	N	0.24115	0.695	0.53005	D	0.999968	D	0.89917	1.0	D	0.81914	0.995	D	0.88749	0.3249	10	0.62326	D	0.03	.	13.81	0.63256	0.0:0.0:0.7401:0.2599	.	684	Q8NFT8	DNER_HUMAN	S	684;402	ENSP00000345229:R684S	ENSP00000345229:R684S	R	-	1	0	DNER	229939885	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.690000	0.54713	2.817000	0.96982	0.551000	0.68910	CGC		0.562	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		T	230231641	G	T	230231641	3	4	338	1	0	0	0	0	1	0	0	0	4669	1116	39	4	171	4	DNER	2	230231641	Missense_Mutation	SNP	G	TCGA-BP-4345-01A-01D-1366-10	23062065	230231641	12967732	6	19584											
NFKBIL1	4795	hgsc.bcm.edu	37	6	31525512	31525512	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr6:31525512T>G	ENST00000376148.4	+	3	556	c.442T>G	c.(442-444)Tgg>Ggg	p.W148G	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.W148G	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	148					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GGGACCCCCCTGGGATTCTGC	0.572																																																0													45	50	48					6																	31525512		2203	4300	6503	SO:0001583	missense	4795			X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.442T>G	6.37:g.31525512T>G	ENSP00000365318:p.Trp148Gly		A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Missense_Mutation	SNP	ENST00000376148.4	37	CCDS4700.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096971	0.37048	.	.	ENSG00000204498	ENST00000376146;ENST00000542852;ENST00000376148;ENST00000376145	T;T;T	0.29917	1.97;1.55;1.97	6.07	1.89	0.25635	.	0.544012	0.20456	N	0.092000	T	0.04092	0.0114	N	0.08118	0	0.32855	D	0.50719	B;B;B	0.23650	0.089;0.089;0.089	B;B;B	0.18263	0.021;0.021;0.021	T	0.30909	-0.9962	10	0.23302	T	0.38	-10.9008	3.715	0.08434	0.0:0.2247:0.1873:0.588	.	125;148;148	Q5STV6;Q5STV4;Q9UBC1	.;.;IKBL1_HUMAN	G	125;125;148;148	ENSP00000365316:W125G;ENSP00000365318:W148G;ENSP00000365315:W148G	ENSP00000365315:W148G	W	+	1	0	NFKBIL1	31633491	0.987000	0.35691	1.000000	0.80357	0.995000	0.86356	0.638000	0.24674	1.110000	0.41699	0.533000	0.62120	TGG		0.572	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076036.3	NM_005007		G	31525512	T	G	31525512	3	3	338	1	0	0	0	0	1	0	0	0	10383	1580	55	5	452	5	NFKBIL1	6	31525512	Missense_Mutation	SNP	T	TCGA-BP-4345-01A-01D-1366-10		31525512	139589555	7	19585											
TIAM2	26230	hgsc.bcm.edu	37	6	155451458	155451458	+	Silent	SNP	T	T	C			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr6:155451458T>C	ENST00000461783.3	+	6	2374	c.1101T>C	c.(1099-1101)gtT>gtC	p.V367V	TIAM2_ENST00000318981.5_Silent_p.V367V|TIAM2_ENST00000360366.4_Silent_p.V367V|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Silent_p.V367V|TIAM2_ENST00000456144.1_Silent_p.V367V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	367					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAGCCTTTGTTGAGGATACTG	0.547																																																0													72	70	71					6																	155451458		2203	4300	6503	SO:0001819	synonymous_variant	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1101T>C	6.37:g.155451458T>C			B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.547	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		C	155451458	T	C	155451458	2	2	338	1	0	0	0	0	0	0	0	1	15896	1799	63	3		3	TIAM2	6	155451458	Silent	SNP	T	TCGA-BP-4345-01A-01D-1366-10	123925946	155451458	15663609	8	19586											
C7orf27	221927	hgsc.bcm.edu	37	7	2579268	2579268	+	Missense_Mutation	SNP	G	G	A	rs147745609		TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr7:2579268G>A	ENST00000340611.4	-	12	1763	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	503					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TGCAGCACAGGGAACAGCTCT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		19131	0.0		0.0	False		,,,				2504	0.001															0								G	SER/PRO	1,4397		0,1,2198	39	35	36		1507	3.8	0.1	7	dbSNP_134	36	7,8583		0,7,4288	yes	missense	BRAT1	NM_152743.3	74	0,8,6486	AA,AG,GG		0.0815,0.0227,0.0616	benign	503/822	2579268	8,12980	2199	4295	6494	SO:0001583	missense	0			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1507C>T	7.37:g.2579268G>A	ENSP00000339637:p.Pro503Ser		A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	G	4.630	0.117028	0.08881	2.27E-4	8.15E-4	ENSG00000106009	ENST00000340611	T	0.71817	-0.6	5.59	3.77	0.43336	Armadillo-like helical (1);Armadillo-type fold (1);	0.423407	0.26851	N	0.022169	T	0.58963	0.2159	L	0.32530	0.975	0.34313	D	0.685727	B	0.15930	0.015	B	0.20184	0.028	T	0.60782	-0.7195	10	0.33940	T	0.23	-11.3833	11.5939	0.50962	0.0677:0.3456:0.5866:0.0	.	503	Q6PJG6	BRAT1_HUMAN	S	503	ENSP00000339637:P503S	ENSP00000339637:P503S	P	-	1	0	BRAT1	2545794	0.998000	0.40836	0.077000	0.20336	0.024000	0.10985	1.179000	0.31993	0.696000	0.31696	0.561000	0.74099	CCT		0.662	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		A	2579268	G	A	2579268	3	1	338	1	0	0	0	0	1	0	0	0	2384	1232	43	2	970	2	C7orf27	7	2579268	Missense_Mutation	SNP	G	TCGA-BP-4345-01A-01D-1366-10		2579268	156559395	9	19587											
TECPR1	25851	hgsc.bcm.edu	37	7	97874261	97874261	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr7:97874261T>C	ENST00000447648.2	-	4	643	c.344A>G	c.(343-345)cAc>cGc	p.H115R	TECPR1_ENST00000542604.1_Missense_Mutation_p.H36R|TECPR1_ENST00000379795.3_Missense_Mutation_p.H115R			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	115					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCACTCCCAGTGCGGCGAGGG	0.617																																																0													42	53	50					7																	97874261		2169	4267	6436	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.344A>G	7.37:g.97874261T>C	ENSP00000404923:p.His115Arg		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.603306	0.46423	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	D;D;T	0.93488	-3.23;-3.23;1.49	5.26	5.26	0.73747	Ferlin/Peroxisome membrane (1);	0.139204	0.64402	D	0.000003	D	0.88793	0.6533	L	0.32530	0.975	0.42372	D	0.992458	B;B	0.22909	0.077;0.011	B;B	0.23419	0.046;0.011	D	0.85192	0.1010	10	0.21014	T	0.42	-24.3542	14.3487	0.66685	0.0:0.0:0.0:1.0	.	36;115	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	R	115;115;36	ENSP00000404923:H115R;ENSP00000369121:H115R;ENSP00000441121:H36R	ENSP00000369121:H115R	H	-	2	0	TECPR1	97712197	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.778000	0.55371	2.001000	0.58596	0.454000	0.30748	CAC		0.617	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		C	97874261	T	C	97874261	3	2	338	1	0	0	0	0	1	0	0	0	15748	1696	59	3	3245	3	TECPR1	7	97874261	Missense_Mutation	SNP	T	TCGA-BP-4345-01A-01D-1366-10	95294993	97874261	61264402	10	19588											
PPP3R2	116443	hgsc.bcm.edu	37	9	104356948	104356948	+	Intron	SNP	C	C	A			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr9:104356948C>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.G89C	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.G89C(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TCCTCGTCGCCCTTGACGCTG	0.537																																																1	Substitution - Missense(1)	ovary(1)											125	119	121					9																	104356948		2203	4300	6503	SO:0001627	intron_variant	5535				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15306G>T	9.37:g.104356948C>A			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144706	0.37825	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.34275	1.37	3.97	3.08	0.35506	EF-hand-like domain (1);	0.000000	0.41712	D	0.000829	T	0.50274	0.1606	M	0.89353	3.025	0.46954	D	0.999267	D	0.55605	0.972	P	0.48704	0.587	T	0.61272	-0.7096	10	0.87932	D	0	-17.6975	10.1727	0.42920	0.0:0.8999:0.0:0.1001	.	86	Q96LZ3	CANB2_HUMAN	C	89	ENSP00000363939:G89C	ENSP00000363939:G89C	G	-	1	0	PPP3R2	103396769	0.995000	0.38212	0.064000	0.19789	0.118000	0.20060	3.608000	0.54109	1.264000	0.44198	-0.244000	0.11960	GGC		0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			A	104356948	C	A	104356948	1	1	338	0	1	0	0	0	0	0	0	0	12406	623	22	4		4	PPP3R2	9	104356948	Intron	SNP	C	TCGA-BP-4345-01A-01D-1366-10		104356948	36856483	11	19589											
PAPSS2	9060	hgsc.bcm.edu	37	10	89503130	89503130	+	Splice_Site	SNP	A	A	G			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr10:89503130A>G	ENST00000361175.4	+	10	1577	c.1208A>G	c.(1207-1209)gAt>gGt	p.D403G	PAPSS2_ENST00000427144.2_Splice_Site_p.D407G|PAPSS2_ENST00000456849.1_Splice_Site_p.D408G	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	403					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CCTCTCCCAGATGCGGTGTTT	0.502																																																0													162	149	153					10																	89503130		2203	4300	6503	SO:0001630	splice_region_variant	9060			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1208-1A>G	10.37:g.89503130A>G			Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831641	0.91036	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.31247	1.5;1.5;1.5	5.46	5.46	0.80206	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.043926	0.85682	D	0.000000	T	0.63965	0.2556	H	0.96833	3.89	0.80722	D	1	B;P	0.49307	0.395;0.922	P;P	0.54401	0.597;0.751	T	0.77456	-0.2581	9	.	.	.	.	15.7119	0.77635	1.0:0.0:0.0:0.0	.	403;408	O95340;O95340-2	PAPS2_HUMAN;.	G	403;408;407;407	ENSP00000354436:D403G;ENSP00000406157:D408G;ENSP00000397123:D407G	.	D	+	2	0	PAPSS2	89493110	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.755000	0.91646	2.291000	0.77112	0.533000	0.62120	GAT		0.502	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1		Missense_Mutation	G	89503130	A	G	89503130	5	3	338	1	0	0	0	0	0	0	1	0	11437	347	12	3	1265	3	PAPSS2	10	89503130	Splice_Site	SNP	A	TCGA-BP-4345-01A-01D-1366-10		89503130	46031617	12	19590											
PTEN	5728	hgsc.bcm.edu;ucsc.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	GRCh37	CM981670|CM991081	PTEN	M	rs121909229						139	129	133					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89692905	G	A	89692905	3	1	338	1	0	0	0	0	1	0	0	0	12743	1058	37	1	407	1	PTEN	10	89692905	Missense_Mutation	SNP	G	TCGA-BP-4345-01A-01D-1366-10	189775	89692905	45841842	13	19591											
INO80	54617	hgsc.bcm.edu;ucsc.edu	37	15	41313241	41313241	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr15:41313241A>T	ENST00000361937.3	-	26	3555	c.3131T>A	c.(3130-3132)cTg>cAg	p.L1044Q	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Missense_Mutation_p.L1044Q			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1044	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTTGGCTGCCAGACTCCCTCC	0.512																																																0													94	85	88					15																	41313241		2203	4300	6503	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3131T>A	15.37:g.41313241A>T	ENSP00000355205:p.Leu1044Gln		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.207735	0.39003	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91180	-2.8;-2.8	5.14	5.14	0.70334	.	0.427308	0.24260	N	0.040091	T	0.76026	0.3930	N	0.05124	-0.11	0.40658	D	0.982104	P	0.39964	0.697	B	0.32864	0.154	T	0.77101	-0.2712	10	0.27785	T	0.31	.	9.5935	0.39561	0.922:0.0:0.078:0.0	.	1044	Q9ULG1	INO80_HUMAN	Q	1044	ENSP00000355205:L1044Q;ENSP00000384686:L1044Q	ENSP00000355205:L1044Q	L	-	2	0	INO80	39100533	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.736000	0.55052	2.150000	0.67090	0.533000	0.62120	CTG		0.512	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		T	41313241	A	T	41313241	3	4	338	1	0	0	0	0	1	0	0	0	7748	188	7	5	1583	5	INO80	15	41313241	Missense_Mutation	SNP	A	TCGA-BP-4345-01A-01D-1366-10		41313241	61218151	14	19592											
DUOX1	53905	hgsc.bcm.edu	37	15	45436386	45436386	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr15:45436386C>T	ENST00000321429.4	+	18	2496	c.2089C>T	c.(2089-2091)Cgt>Tgt	p.R697C	DUOX1_ENST00000389037.3_Missense_Mutation_p.R697C|DUOX1_ENST00000561166.1_Missense_Mutation_p.R343C	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	697					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.R697G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GTCCAGCAACCGTGGACGCCG	0.622																																																1	Substitution - Missense(1)	ovary(1)											89	73	78					15																	45436386		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2089C>T	15.37:g.45436386C>T	ENSP00000317997:p.Arg697Cys		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710573	0.48517	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.86366	-2.11;-2.11	4.78	4.78	0.61160	.	0.631546	0.17728	N	0.163990	D	0.85600	0.5734	L	0.58101	1.795	0.58432	D	0.999996	B	0.15930	0.015	B	0.13407	0.009	T	0.83048	-0.0154	10	0.66056	D	0.02	-0.7754	15.688	0.77426	0.0:1.0:0.0:0.0	.	697	Q9NRD9	DUOX1_HUMAN	C	697	ENSP00000317997:R697C;ENSP00000373689:R697C	ENSP00000317997:R697C	R	+	1	0	DUOX1	43223678	0.866000	0.29940	0.992000	0.48379	0.678000	0.39670	1.656000	0.37355	2.631000	0.89168	0.655000	0.94253	CGT		0.622	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		T	45436386	C	T	45436386	3	4	338	1	0	0	0	0	1	0	0	0	4802	652	23	1	2151	1	DUOX1	15	45436386	Missense_Mutation	SNP	C	TCGA-BP-4345-01A-01D-1366-10	4123145	45436386	57095006	15	19593											
ANPEP	290	hgsc.bcm.edu	37	15	90342657	90342657	+	Splice_Site	SNP	C	C	A	rs184252270	byFrequency	TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr15:90342657C>A	ENST00000300060.6	-	13	2266	c.1953G>T	c.(1951-1953)tcG>tcT	p.S651S	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	651	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	AGACACTCACCGAGTGGTCTC	0.597																																					NSCLC(30;827 977 2459 19669 26125)											0													121	113	116					15																	90342657		2200	4299	6499	SO:0001630	splice_region_variant	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1953+1G>T	15.37:g.90342657C>A			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	CCDS10356.1																																																																																				0.597	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1		Silent	A	90342657	C	A	90342657	5	1	338	1	0	0	0	0	0	0	1	0	710	666	23	4	986	4	ANPEP	15	90342657	Splice_Site	SNP	C	TCGA-BP-4345-01A-01D-1366-10	44906271	90342657	12188735	16	19594											
MMP2	4313	hgsc.bcm.edu	37	16	55530885	55530885	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr16:55530885T>C	ENST00000219070.4	+	10	2029	c.1520T>C	c.(1519-1521)cTg>cCg	p.L507P	MMP2_ENST00000437642.2_Missense_Mutation_p.L457P|MMP2_ENST00000570308.1_Missense_Mutation_p.L431P|MMP2_ENST00000543485.1_Missense_Mutation_p.L431P	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	507	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	ATGGGGCCCCTGCTGGTGGCC	0.592																																																0													67	63	65					16																	55530885		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1520T>C	16.37:g.55530885T>C	ENSP00000219070:p.Leu507Pro		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205024	0.79127	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.02446	4.29;4.29;4.29	6.07	6.07	0.98685	Hemopexin/matrixin (2);	0.171378	0.50627	D	0.000117	T	0.09642	0.0237	L	0.49455	1.56	0.80722	D	1	D;D	0.61697	0.989;0.99	P;P	0.58873	0.831;0.847	T	0.19844	-1.0293	10	0.33141	T	0.24	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	457;507	E9PE45;P08253	.;MMP2_HUMAN	P	507;431;457	ENSP00000219070:L507P;ENSP00000444143:L431P;ENSP00000394237:L457P	ENSP00000219070:L507P	L	+	2	0	MMP2	54088386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.805000	0.62561	2.326000	0.78906	0.533000	0.62120	CTG		0.592	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			C	55530885	T	C	55530885	3	2	338	1	0	0	0	0	1	0	0	0	9660	1580	55	3	1565	3	MMP2	16	55530885	Missense_Mutation	SNP	T	TCGA-BP-4345-01A-01D-1366-10		55530885	34823868	17	19595											
NTN5	126147	hgsc.bcm.edu;ucsc.edu	37	19	49166772	49166772	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chr19:49166772C>T	ENST00000270235.4	-	6	1148	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	351	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TGGTGTCCGACATATTGCAGT	0.592																																																0													211	170	184					19																	49166772		2203	4300	6503	SO:0001583	missense	126147				CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1053G>A	19.37:g.49166772C>T	ENSP00000270235:p.Met351Ile		Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	C	8.193	0.796407	0.16327	.	.	ENSG00000142233	ENST00000270235	T	0.29142	1.58	5.51	-2.11	0.07187	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	1.392810	0.04631	N	0.403674	T	0.14830	0.0358	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23048	-1.0199	10	0.22109	T	0.4	.	6.9651	0.24619	0.2109:0.3636:0.4255:0.0	.	351	Q8WTR8	NET5_HUMAN	I	351	ENSP00000270235:M351I	ENSP00000270235:M351I	M	-	3	0	NTN5	53858584	0.003000	0.15002	0.001000	0.08648	0.993000	0.82548	-0.242000	0.08928	-0.349000	0.08274	-0.165000	0.13383	ATG		0.592	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		T	49166772	C	T	49166772	3	4	338	1	0	0	0	0	1	0	0	0	10705	478	17	2	424	2	NTN5	19	49166772	Missense_Mutation	SNP	C	TCGA-BP-4345-01A-01D-1366-10		49166772	9962211	18	19596											
MAMLD1	10046	hgsc.bcm.edu;ucsc.edu	37	X	149613802	149613802	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4345-01A-01D-1366-10	TCGA-BP-4345-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	deda137c-5c13-41d4-95e1-9105db3c953b	6831bc8a-3618-41d4-99d3-5c570ed37ae7	g.chrX:149613802G>A	ENST00000370401.2	+	2	330	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	MAMLD1_ENST00000262858.5_Missense_Mutation_p.R7Q|MAMLD1_ENST00000432680.2_Missense_Mutation_p.R7Q|MAMLD1_ENST00000468306.1_Intron|MAMLD1_ENST00000426613.2_Missense_Mutation_p.R7Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	7					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAAAAGTCGGCTTGTAATC	0.498																																																0													75	72	73					X																	149613802		1876	4107	5983	SO:0001583	missense	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.20G>A	X.37:g.149613802G>A	ENSP00000359428:p.Arg7Gln		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001150	0.74818	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.71103	-0.3;-0.54;-0.3;-0.11	5.31	3.03	0.35002	.	.	.	.	.	T	0.74458	0.3719	L	0.51422	1.61	0.58432	D	0.999996	P;P;D	0.71674	0.887;0.933;0.998	B;B;D	0.75484	0.219;0.316;0.986	T	0.75107	-0.3434	9	0.87932	D	0	-25.7446	3.127	0.06411	0.1758:0.0:0.5735:0.2507	.	7;7;7	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	Q	7	ENSP00000359428:R7Q;ENSP00000414517:R7Q;ENSP00000262858:R7Q;ENSP00000397438:R7Q	ENSP00000262858:R7Q	R	+	2	0	MAMLD1	149364460	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.337000	0.43947	2.199000	0.70637	0.513000	0.50165	CGG		0.498	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		A	149613802	G	A	149613802	3	1	338	1	0	0	0	0	1	0	0	0	9210	1116	39	1	22	1	MAMLD1	23	149613802	Missense_Mutation	SNP	G	TCGA-BP-4345-01A-01D-1366-10		149613802	5656758	19	19597											
ATP13A2	23400	hgsc.bcm.edu	37	1	17318322	17318322	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr1:17318322C>T	ENST00000326735.8	-	20	2191	c.2158G>A	c.(2158-2160)Ggg>Agg	p.G720R	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.G715R|ATP13A2_ENST00000452699.1_Missense_Mutation_p.G715R			Q9NQ11	AT132_HUMAN	ATPase type 13A2	720					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACCAGCAGCCCCAGGAGGCTC	0.627																																																0													71	68	69					1																	17318322		2203	4300	6503	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2158G>A	1.37:g.17318322C>T	ENSP00000327214:p.Gly720Arg		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715340	0.89112	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000503552	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	4.7	4.7	0.59300	ATPase, cation-transporting, domain N (1);HAD-like domain (2);	0.095435	0.64402	D	0.000001	D	0.94823	0.8328	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.96402	0.9297	10	0.87932	D	0	-28.4809	16.3304	0.83010	0.0:1.0:0.0:0.0	.	715;715;720	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	R	720;715;715;190	ENSP00000327214:G720R;ENSP00000341115:G715R;ENSP00000413307:G715R;ENSP00000421126:G190R	ENSP00000327214:G720R	G	-	1	0	ATP13A2	17190909	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.265000	0.78442	2.429000	0.82318	0.491000	0.48974	GGG		0.627	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		T	17318322	C	T	17318322	3	4	339	1	0	0	0	0	1	0	0	0	1124	623	22	2	1660	2	ATP13A2	1	17318322	Missense_Mutation	SNP	C	TCGA-BP-4346-01A-01D-1366-10		17318322	231932299	1	19598											
LGTN	1939	hgsc.bcm.edu	37	1	206776435	206776435	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr1:206776435C>T	ENST00000271764.2	-	6	862	c.654G>A	c.(652-654)atG>atA	p.M218I	EIF2D_ENST00000367114.3_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	218					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCTCCAGGGTCATGTGCCTCA	0.582																																																0													194	172	180					1																	206776435		2203	4300	6503	SO:0001583	missense	100529141			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.654G>A	1.37:g.206776435C>T	ENSP00000271764:p.Met218Ile		Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	C	8.144	0.785964	0.16189	.	.	ENSG00000143486	ENST00000271764;ENST00000367111;ENST00000437518	T;T	0.39997	1.05;1.05	5.89	2.72	0.32119	.	0.555420	0.19749	N	0.106946	T	0.24624	0.0597	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.16070	-1.0415	10	0.36615	T	0.2	-17.2481	10.3042	0.43670	0.1316:0.5835:0.2849:0.0	.	218	P41214	EIF2D_HUMAN	I	218;190;190	ENSP00000271764:M218I;ENSP00000394685:M190I	ENSP00000271764:M218I	M	-	3	0	EIF2D	204843058	0.226000	0.23696	0.009000	0.14445	0.386000	0.30323	0.587000	0.23909	0.786000	0.33708	0.655000	0.94253	ATG		0.582	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		T	206776435	C	T	206776435	3	4	339	1	0	0	0	0	1	0	0	0	8762	826	29	2	1140	2	LGTN	1	206776435	Missense_Mutation	SNP	C	TCGA-BP-4346-01A-01D-1366-10	189458113	206776435	42474186	2	19599											
HLX	3142	hgsc.bcm.edu;ucsc.edu	37	1	221055659	221055659	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr1:221055659T>C	ENST00000366903.6	+	3	2427	c.926T>C	c.(925-927)cTg>cCg	p.L309P	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_Missense_Mutation_p.L95P	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	309					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CGAAAGCAGCTGGCGGCGATG	0.627																																																0													49	43	45					1																	221055659		2203	4300	6503	SO:0001583	missense	3142			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.926T>C	1.37:g.221055659T>C	ENSP00000355870:p.Leu309Pro		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	T	31	5.089072	0.94100	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;D;D	0.98792	-5.05;-5.14;-5.05	5.9	5.9	0.94986	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.160366	0.28865	N	0.013899	D	0.99548	0.9838	H	0.98951	4.38	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.97823	1.0258	10	0.87932	D	0	-20.4509	16.3816	0.83467	0.0:0.0:0.0:1.0	.	309	Q14774	HLX_HUMAN	P	309;42;95	ENSP00000355870:L309P;ENSP00000408248:L42P;ENSP00000449882:L95P	ENSP00000355870:L309P	L	+	2	0	HLX	219122282	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.038000	0.88943	2.276000	0.75962	0.454000	0.30748	CTG		0.627	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		C	221055659	T	C	221055659	3	2	339	1	0	0	0	0	1	0	0	0	7218	1580	55	3	936	3	HLX	1	221055659	Missense_Mutation	SNP	T	TCGA-BP-4346-01A-01D-1366-10	14279224	221055659	28194962	3	19600											
AIDA	64853	hgsc.bcm.edu	37	1	222843559	222843559	+	Missense_Mutation	SNP	T	T	A	rs200516684		TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr1:222843559T>A	ENST00000340020.6	-	9	946	c.740A>T	c.(739-741)aAg>aTg	p.K247M	AIDA_ENST00000541237.1_Missense_Mutation_p.K223M|AIDA_ENST00000355727.2_Missense_Mutation_p.K165M|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	247					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTTTTTAGGCTTGTAGTGTTT	0.353																																																0													60	57	58					1																	222843559		2203	4300	6503	SO:0001583	missense	64853			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"axin interaction partner and dorsalization antagonist"	612375	"chromosome 1 open reading frame 80"	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.740A>T	1.37:g.222843559T>A	ENSP00000339161:p.Lys247Met		A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370995	0.61624	.	.	ENSG00000186063	ENST00000340020;ENST00000355727;ENST00000541237	.	.	.	5.9	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.76574	2.34	0.80722	D	1	B;B	0.18863	0.025;0.031	B;B	0.13407	0.008;0.009	T	0.65022	-0.6269	9	0.87932	D	0	.	12.5154	0.56030	0.1246:0.0:0.0:0.8754	.	223;247	F5H715;Q96BJ3	.;AIDA_HUMAN	M	247;165;223	.	ENSP00000339161:K247M	K	-	2	0	AIDA	220910182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.001000	0.63946	2.250000	0.74265	0.533000	0.62120	AAG		0.353	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831		A	222843559	T	A	222843559	3	1	339	1	0	0	0	0	1	0	0	0	423	1609	56	5	188	5	AIDA	1	222843559	Missense_Mutation	SNP	T	TCGA-BP-4346-01A-01D-1366-10	1787900	222843559	26407062	4	19601											
HNRPLL	92906	hgsc.bcm.edu;ucsc.edu	37	2	38800465	38800465	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr2:38800465T>C	ENST00000449105.3	-	8	1318	c.979A>G	c.(979-981)Atg>Gtg	p.M327V	HNRNPLL_ENST00000378915.3_Missense_Mutation_p.M293V|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.M322V|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.M327V|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.M293V			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	327					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CCTCCATGCATGTAAGAGGAA	0.413																																																0													111	107	109					2																	38800465		2203	4300	6503	SO:0001583	missense	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.979A>G	2.37:g.38800465T>C	ENSP00000390625:p.Met327Val		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37		.	.	.	.	.	.	.	.	.	.	T	10.58	1.388806	0.25118	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328	.	.	.	5.42	5.42	0.78866	.	0.114714	0.64402	D	0.000007	T	0.42743	0.1216	N	0.22421	0.69	0.80722	D	1	B;B;B	0.21381	0.055;0.055;0.027	B;B;B	0.18263	0.021;0.021;0.004	T	0.31916	-0.9926	9	0.12766	T	0.61	1.2017	15.7498	0.77976	0.0:0.0:0.0:1.0	.	322;327;327	C9J9G0;D6W592;Q8WVV9	.;.;HNRLL_HUMAN	V	327;322;293;293	.	ENSP00000368195:M293V	M	-	1	0	HNRPLL	38653969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.806000	0.27126	2.172000	0.68678	0.482000	0.46254	ATG		0.413	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		C	38800465	T	C	38800465	3	2	339	1	0	0	0	0	1	0	0	0	7279	1464	51	3	673	3	HNRPLL	2	38800465	Missense_Mutation	SNP	T	TCGA-BP-4346-01A-01D-1366-10		38800465	204398908	5	19602											
ANKRD44	91526	hgsc.bcm.edu;ucsc.edu	37	2	197954719	197954719	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr2:197954719C>T	ENST00000328737.2	-	11	1139	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	ANKRD44_ENST00000337207.5_Missense_Mutation_p.A355T|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A380T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A372T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A355T|ANKRD44_ENST00000477852.1_5'Flank|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A308T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	380										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCATTTAGGGCAGCTAAATGT	0.433																																																0													127	113	118					2																	197954719		2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1063G>A	2.37:g.197954719C>T	ENSP00000331516:p.Ala355Thr		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	C	35	5.562244	0.96527	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.71817	-0.37;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	L	0.55103	1.725	0.80722	D	1	P;D;D	0.76494	0.844;0.999;0.999	P;D;D	0.85130	0.58;0.995;0.997	T	0.78086	-0.2341	10	0.33141	T	0.24	.	19.1499	0.93483	0.0:1.0:0.0:0.0	.	308;380;380	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	T	177;372;355;355;355;78;380;308	ENSP00000403415:A177T;ENSP00000282272:A372T;ENSP00000331516:A355T;ENSP00000402420:A355T;ENSP00000338794:A355T;ENSP00000416319:A78T;ENSP00000387141:A380T;ENSP00000437825:A308T	ENSP00000282272:A372T	A	-	1	0	ANKRD44	197662964	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	7.648000	0.83479	2.761000	0.94854	0.650000	0.86243	GCC		0.433	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		T	197954719	C	T	197954719	3	4	339	1	0	0	0	0	1	0	0	0	672	710	25	2	1760	2	ANKRD44	2	197954719	Missense_Mutation	SNP	C	TCGA-BP-4346-01A-01D-1366-10	159154254	197954719	45244654	6	19603											
LARS2	23395	hgsc.bcm.edu	37	3	45583404	45583404	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr3:45583404C>A	ENST00000415258.1	+	20	2629	c.2488C>A	c.(2488-2490)Ccg>Acg	p.P830T	LARS2_ENST00000414984.1_Missense_Mutation_p.P787T|LARS2_ENST00000265537.3_Missense_Mutation_p.P830T			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	830					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGCTGTGGACCCGGAGTTCCT	0.637																																																0													70	62	64					3																	45583404		2203	4300	6503	SO:0001583	missense	23395			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2488C>A	3.37:g.45583404C>A	ENSP00000408576:p.Pro830Thr			Missense_Mutation	SNP	ENST00000415258.1	37	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172358	0.21704	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.31247	1.5;1.5;1.5	5.67	3.79	0.43588	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.241644	0.42294	N	0.000729	T	0.29321	0.0730	M	0.62266	1.93	0.46981	D	0.999275	B;B	0.16166	0.016;0.016	B;B	0.15484	0.013;0.013	T	0.08806	-1.0704	10	0.62326	D	0.03	-17.9133	7.6703	0.28455	0.2921:0.6327:0.0:0.0752	.	787;830	E9PHM2;Q15031	.;SYLM_HUMAN	T	830;830;787	ENSP00000265537:P830T;ENSP00000408576:P830T;ENSP00000412893:P787T	ENSP00000265537:P830T	P	+	1	0	LARS2	45558408	1.000000	0.71417	0.986000	0.45419	0.204000	0.24138	2.503000	0.45407	0.671000	0.31185	0.557000	0.71058	CCG		0.637	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		A	45583404	C	A	45583404	3	1	339	1	0	0	0	0	1	0	0	0	8637	623	22	4	2562	4	LARS2	3	45583404	Missense_Mutation	SNP	C	TCGA-BP-4346-01A-01D-1366-10		45583404	152439026	7	19604											
CACNA1D	776	hgsc.bcm.edu;ucsc.edu	37	3	53845146	53845146	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr3:53845146A>G	ENST00000350061.5	+	48	6710	c.6199A>G	c.(6199-6201)Ata>Gta	p.I2067V	CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000288139.4_Missense_Mutation_p.I2087V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I2043V	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2067					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACAGGTCCTGATATCCGAAGG	0.498																																																0													84	84	84					3																	53845146		2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6199A>G	3.37:g.53845146A>G	ENSP00000288133:p.Ile2067Val		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704688	0.68615	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.39	5.39	0.77823	.	0.135539	0.46442	D	0.000282	T	0.76535	0.4001	L	0.47078	1.49	0.80722	D	1	D;P;D;D	0.69078	0.995;0.882;0.979;0.997	D;B;P;D	0.77557	0.977;0.387;0.714;0.99	T	0.76176	-0.3055	10	0.42905	T	0.14	.	15.7136	0.77649	1.0:0.0:0.0:0.0	.	2043;1760;2067;2087	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	V	2067;2087;2043;1760	ENSP00000288133:I2067V;ENSP00000288139:I2087V;ENSP00000409174:I2043V;ENSP00000418014:I1760V	ENSP00000288139:I2087V	I	+	1	0	CACNA1D	53820186	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	9.265000	0.95647	2.188000	0.69820	0.533000	0.62120	ATA		0.498	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		G	53845146	A	G	53845146	3	3	339	1	0	0	0	0	1	0	0	0	2543	333	12	3	6561	3	CACNA1D	3	53845146	Missense_Mutation	SNP	A	TCGA-BP-4346-01A-01D-1366-10	8261742	53845146	144177284	8	19605											
C3orf30	152405	hgsc.bcm.edu	37	3	118865300	118865300	+	Silent	SNP	C	C	A			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr3:118865300C>A	ENST00000295622.1	+	1	304	c.264C>A	c.(262-264)ggC>ggA	p.G88G	RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	88										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GTCAGGCTGGCCGCAGAGCAT	0.502																																																0													55	47	50					3																	118865300		2203	4300	6503	SO:0001819	synonymous_variant	152405			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.264C>A	3.37:g.118865300C>A			A1L4B7	Silent	SNP	ENST00000295622.1	37	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	C	2.904	-0.226751	0.06022	.	.	ENSG00000163424	ENST00000460150	.	.	.	2.98	-1.52	0.08637	.	.	.	.	.	T	0.18215	0.0437	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	0.6098	0.00759	0.179:0.2402:0.1772:0.4037	.	.	.	.	T	52	.	.	P	+	1	0	C3orf30	120347990	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.855000	0.01663	-0.365000	0.08076	0.563000	0.77884	CCG		0.502	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		A	118865300	C	A	118865300	2	1	339	1	0	0	0	0	0	0	0	1	2222	726	26	4		4	C3orf30	3	118865300	Silent	SNP	C	TCGA-BP-4346-01A-01D-1366-10	65020154	118865300	79157130	9	19606											
RHO	6010	hgsc.bcm.edu	37	3	129249846	129249846	+	Missense_Mutation	SNP	G	G	T	rs556019320		TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr3:129249846G>T	ENST00000296271.3	+	2	583	c.489G>T	c.(487-489)atG>atT	p.M163I		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	163					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCTGGGTCATGGCGCTGGCCT	0.632																																					Esophageal Squamous(118;214 1623 30842 43234 46940)											0													124	100	108					3																	129249846		2203	4300	6503	SO:0001583	missense	6010			AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"GPCR / Class A : Opsin receptors"	10012	protein-coding gene	gene with protein product	"opsin 2, rod pigment"	180380	"retinitis pigmentosa 4, autosomal dominant"	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.489G>T	3.37:g.129249846G>T	ENSP00000296271:p.Met163Ile		Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080758	0.94050	.	.	ENSG00000163914	ENST00000296271	T	0.70282	-0.47	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85366	0.5680	M	0.81682	2.555	0.80722	D	1	D	0.56035	0.974	D	0.74023	0.982	D	0.87240	0.2266	10	0.87932	D	0	.	18.8606	0.92270	0.0:0.0:1.0:0.0	.	163	P08100	OPSD_HUMAN	I	163	ENSP00000296271:M163I	ENSP00000296271:M163I	M	+	3	0	RHO	130732536	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.863000	0.99569	2.448000	0.82819	0.462000	0.41574	ATG		0.632	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		T	129249846	G	T	129249846	3	4	339	1	0	0	0	0	1	0	0	0	13336	1348	47	4	495	4	RHO	3	129249846	Missense_Mutation	SNP	G	TCGA-BP-4346-01A-01D-1366-10	10384546	129249846	68772584	10	19607											
SERPINI1	5274	hgsc.bcm.edu;ucsc.edu	37	3	167508176	167508176	+	Silent	SNP	C	C	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr3:167508176C>T	ENST00000295777.5	+	3	698	c.267C>T	c.(265-267)ttC>ttT	p.F89F	SERPINI1_ENST00000446050.2_Silent_p.F89F	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	89					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AATTTTCTTTCTTGAAGGAGT	0.368																																																0													65	66	66					3																	167508176		2203	4300	6503	SO:0001819	synonymous_variant	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.267C>T	3.37:g.167508176C>T			A8K217|D3DNP1|Q6AHZ4	Silent	SNP	ENST00000295777.5	37	CCDS3203.1																																																																																				0.368	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			T	167508176	C	T	167508176	2	4	339	1	0	0	0	0	0	0	0	1	14124	912	32	2		2	SERPINI1	3	167508176	Silent	SNP	C	TCGA-BP-4346-01A-01D-1366-10	38258330	167508176	30514254	11	19608											
TIGD2	166815	hgsc.bcm.edu	37	4	90034133	90034133	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr4:90034133G>T	ENST00000317005.2	+	1	166	c.8G>T	c.(7-9)gGg>gTg	p.G3V	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	3	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAAATGTTGGGGAAACGTAAG	0.338																																																0													99	104	102					4																	90034133		2203	4300	6503	SO:0001583	missense	166815			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.8G>T	4.37:g.90034133G>T	ENSP00000317170:p.Gly3Val			Missense_Mutation	SNP	ENST00000317005.2	37	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	g	12.42	1.933753	0.34096	.	.	ENSG00000180346	ENST00000317005	T	0.23754	1.89	3.01	3.01	0.34805	Homeodomain-like (1);Helix-turn-helix, Psq-like (1);	0.000000	0.41712	U	0.000823	T	0.31513	0.0799	N	0.22421	0.69	0.49687	D	0.99981	D	0.89917	1.0	D	0.74023	0.982	T	0.04078	-1.0979	10	0.45353	T	0.12	.	9.6193	0.39712	0.0:0.0:1.0:0.0	.	3	Q4W5G0	TIGD2_HUMAN	V	3	ENSP00000317170:G3V	ENSP00000317170:G3V	G	+	2	0	TIGD2	90253156	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.871000	0.48459	1.708000	0.51301	0.298000	0.19748	GGG		0.338	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		T	90034133	G	T	90034133	3	4	339	1	0	0	0	0	1	0	0	0	15901	1232	43	4	10	4	TIGD2	4	90034133	Missense_Mutation	SNP	G	TCGA-BP-4346-01A-01D-1366-10		90034133	101120143	12	19609											
PRDM5	11107	hgsc.bcm.edu;ucsc.edu	37	4	121631520	121631520	+	Silent	SNP	G	G	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr4:121631520G>T	ENST00000264808.3	-	15	1912	c.1672C>A	c.(1672-1674)Cga>Aga	p.R558R	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Silent_p.R527R|PRDM5_ENST00000515109.1_Missense_Mutation_p.A498E	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	558					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCAGGCCTCGCTTCTGGCTG	0.473																																																0													163	116	132					4																	121631520		2203	4300	6503	SO:0001819	synonymous_variant	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1672C>A	4.37:g.121631520G>T			Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561626	0.45590	.	.	ENSG00000138738	ENST00000515109	T	0.09350	2.99	5.45	5.45	0.79879	.	.	.	.	.	T	0.06280	0.0162	.	.	.	0.80722	D	1	B	0.31625	0.332	B	0.34652	0.187	T	0.13791	-1.0496	8	0.02654	T	1	-8.5661	13.393	0.60834	0.0:0.0:0.8424:0.1575	.	498	Q0VAI9	.	E	498	ENSP00000422309:A498E	ENSP00000422309:A498E	A	-	2	0	PRDM5	121850970	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.784000	0.47774	2.710000	0.92621	0.555000	0.69702	GCG		0.473	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			T	121631520	G	T	121631520	2	4	339	1	0	0	0	0	0	0	0	1	12465	1095	38	4		4	PRDM5	4	121631520	Silent	SNP	G	TCGA-BP-4346-01A-01D-1366-10	31597387	121631520	69522756	13	19610											
NUP153	9972	hgsc.bcm.edu	37	6	17637570	17637570	+	Silent	SNP	A	A	G	rs370382318		TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr6:17637570A>G	ENST00000262077.2	-	16	2277	c.2278T>C	c.(2278-2280)Ttg>Ctg	p.L760L	NUP153_ENST00000537253.1_Silent_p.L791L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	760					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACCACTGTCAATGTAAGGGCT	0.433																																																0													155	150	152					6																	17637570		2203	4300	6503	SO:0001819	synonymous_variant	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2278T>C	6.37:g.17637570A>G			B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	CCDS4541.1																																																																																				0.433	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			G	17637570	A	G	17637570	2	3	339	1	0	0	0	0	0	0	0	1	10757	98	4	3		3	NUP153	6	17637570	Silent	SNP	A	TCGA-BP-4346-01A-01D-1366-10		17637570	153477497	14	19611											
PRSS16	10279	hgsc.bcm.edu	37	6	27216901	27216901	+	Silent	SNP	A	A	C			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr6:27216901A>C	ENST00000230582.3	+	4	375	c.360A>C	c.(358-360)ccA>ccC	p.P120P	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	120					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTTGGCCCCAGCCTGGGGCG	0.587																																					NSCLC(178;1118 2105 17078 23587 44429)											0													54	59	58					6																	27216901		2203	4300	6503	SO:0001819	synonymous_variant	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.360A>C	6.37:g.27216901A>C			O75416	Silent	SNP	ENST00000230582.3	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	A	5.587	0.293155	0.10567	.	.	ENSG00000112812	ENST00000485993;ENST00000475106	.	.	.	4.04	-3.83	0.04269	.	.	.	.	.	T	0.29817	0.0745	.	.	.	0.43531	D	0.995812	.	.	.	.	.	.	T	0.38993	-0.9635	4	.	.	.	-20.1907	4.6414	0.12550	0.3051:0.0:0.4276:0.2672	.	.	.	.	R	12	.	.	S	+	1	0	PRSS16	27324880	0.053000	0.20554	0.917000	0.36280	0.060000	0.15804	-0.059000	0.11731	-0.710000	0.05001	0.455000	0.32223	AGC		0.587	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			C	27216901	A	C	27216901	2	2	339	1	0	0	0	0	0	0	0	1	12621	175	7	5		5	PRSS16	6	27216901	Silent	SNP	A	TCGA-BP-4346-01A-01D-1366-10	9579331	27216901	143898166	15	19612											
HLA-DQB1	3119	hgsc.bcm.edu	37	6	32632777	32632777	+	Silent	SNP	C	C	T	rs1049068	byFrequency	TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr6:32632777C>T	ENST00000399084.1	-	3	355	c.177G>A	c.(175-177)gtG>gtA	p.V59V	HLA-DQB1_ENST00000399079.3_Silent_p.V59V|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000374943.4_Silent_p.V59V|HLA-DQB1_ENST00000434651.2_Silent_p.V59V			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	59	Beta-1.		V -> L (in allele DQB1*03:18; dbSNP:rs41563539).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""Insulin(DB00071)"	TGTATCTGGTCACAAGACGCA	0.622									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				C|||	474	0.0946486	0.1044	0.0908	5008	,	,		7780	0.0427		0.1233	False		,,,				2504	0.1084				Esophageal Squamous(151;720 1825 15000 40336 43415)											0								C		473,3789		100,273,1758	30	32	32		177	3	0.1	6	dbSNP_86	32	1130,7308		260,610,3349	no	coding-synonymous	HLA-DQB1	NM_002123.4		360,883,5107	TT,TC,CC		13.3918,11.0981,12.622		59/262	32632777	1603,11097	2131	4219	6350	SO:0001819	synonymous_variant	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.177G>A	6.37:g.32632777C>T			A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399084.1	37	CCDS43451.1																																																																																				0.622	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276127.1	NM_002123		T	32632777	C	T	32632777	2	4	339	1	0	0	0	0	0	0	0	1	7208	813	29	2		2	HLA-DQB1	6	32632777	Silent	SNP	C	TCGA-BP-4346-01A-01D-1366-10	5415876	32632777	138482290	16	19613											
SKAP2	8935	hgsc.bcm.edu	37	7	26765559	26765559	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr7:26765559A>C	ENST00000345317.2	-	8	954	c.641T>G	c.(640-642)cTg>cGg	p.L214R	SKAP2_ENST00000539623.1_Missense_Mutation_p.L42R|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	214	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TACAAATTTCAGCTGCTGTAC	0.328																																																0													83	80	81					7																	26765559		2203	4299	6502	SO:0001583	missense	8935				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.641T>G	7.37:g.26765559A>C	ENSP00000005587:p.Leu214Arg		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.084886	0.55861	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.22336	1.96;1.96	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.144353	0.50627	D	0.000102	T	0.45915	0.1366	M	0.76433	2.335	0.41034	D	0.985173	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.48410	-0.9038	10	0.87932	D	0	-16.8407	11.6211	0.51119	0.8673:0.0:0.0:0.1327	.	199;214	B7Z5N4;O75563	.;SKAP2_HUMAN	R	214;42;199	ENSP00000005587:L214R;ENSP00000443593:L42R	ENSP00000005587:L214R	L	-	2	0	SKAP2	26732084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.216000	0.72212	2.302000	0.77476	0.533000	0.62120	CTG		0.328	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			C	26765559	A	C	26765559	3	2	339	1	0	0	0	0	1	0	0	0	14362	188	7	5	458	5	SKAP2	7	26765559	Missense_Mutation	SNP	A	TCGA-BP-4346-01A-01D-1366-10		26765559	132373104	17	19614											
URGCP	55665	hgsc.bcm.edu	37	7	43918276	43918276	+	Silent	SNP	G	G	C	rs144106376		TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr7:43918276G>C	ENST00000453200.1	-	6	1279	c.786C>G	c.(784-786)gcC>gcG	p.A262A	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Silent_p.A219A|URGCP_ENST00000336086.6_Silent_p.A219A|URGCP_ENST00000223341.7_Silent_p.A219A|URGCP_ENST00000443736.1_Silent_p.A219A|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Silent_p.A253A			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	262					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.A219A(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGAAGGCGAAGGCGGGCGCCC	0.652																																																1	Substitution - coding silent(1)	skin(1)											37	45	42					7																	43918276		2084	4206	6290	SO:0001819	synonymous_variant	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.786C>G	7.37:g.43918276G>C			E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	CCDS47578.1																																																																																				0.652	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		C	43918276	G	C	43918276	2	2	339	1	0	0	0	0	0	0	0	1	17031	987	35	4		4	URGCP	7	43918276	Silent	SNP	G	TCGA-BP-4346-01A-01D-1366-10	17152717	43918276	115220387	18	19615											
PTCD1	26024	hgsc.bcm.edu	37	7	99022803	99022803	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr7:99022803G>T	ENST00000292478.4	-	6	1602	c.1352C>A	c.(1351-1353)aCa>aAa	p.T451K	PTCD1_ENST00000555673.1_Missense_Mutation_p.T500K|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T500K	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	451					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGAGACCACTGTAGGGGGAAC	0.662																																																0													50	54	52					7																	99022803		2203	4300	6503	SO:0001583	missense	26024			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1352C>A	7.37:g.99022803G>T	ENSP00000292478:p.Thr451Lys		Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	G	5.962	0.361560	0.11296	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.63580	-0.05;-0.03;-0.03	5.72	3.74	0.42951	.	0.663220	0.16748	N	0.201163	T	0.48822	0.1521	L	0.34521	1.04	0.09310	N	1	B;B	0.31054	0.306;0.121	B;B	0.24006	0.05;0.023	T	0.35076	-0.9803	10	0.32370	T	0.25	0.1931	13.8419	0.63444	0.0:0.0:0.5533:0.4467	.	500;451	G3V325;O75127	.;PTCD1_HUMAN	K	451;233;500;500	ENSP00000292478:T451K;ENSP00000450995:T500K;ENSP00000400168:T500K	ENSP00000400168:T500K	T	-	2	0	ATP5J2-PTCD1;PTCD1	98860739	0.002000	0.14202	0.370000	0.25965	0.004000	0.04260	0.616000	0.24344	1.405000	0.46838	0.561000	0.74099	ACA		0.662	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		T	99022803	G	T	99022803	3	4	339	1	0	0	0	0	1	0	0	0	12732	1377	48	4	762	4	PTCD1	7	99022803	Missense_Mutation	SNP	G	TCGA-BP-4346-01A-01D-1366-10	55104527	99022803	60115860	19	19616											
TAS2R38	5726	hgsc.bcm.edu	37	7	141672558	141672558	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr7:141672558A>G	ENST00000547270.1	-	1	1015	c.932T>C	c.(931-933)aTt>aCt	p.I311T		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	311					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCAGAGCAGAATGGTCATCAC	0.522																																																0													72	63	66					7																	141672558		2203	4300	6503	SO:0001583	missense	5726			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.932T>C	7.37:g.141672558A>G	ENSP00000448219:p.Ile311Thr		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.431571	0.43122	.	.	ENSG00000257138	ENST00000547270	T	0.00864	5.6	5.01	3.82	0.43975	.	0.627114	0.14668	N	0.305548	T	0.01558	0.0050	L	0.46157	1.445	0.09310	N	1	P	0.49307	0.922	P	0.46850	0.529	T	0.52411	-0.8579	10	0.45353	T	0.12	.	7.7823	0.29072	0.9051:0.0:0.0949:0.0	.	311	P59533	T2R38_HUMAN	T	311	ENSP00000448219:I311T	ENSP00000331291:I311T	I	-	2	0	TAS2R38	141319027	0.001000	0.12720	0.001000	0.08648	0.025000	0.11179	0.796000	0.26986	1.007000	0.39238	0.533000	0.62120	ATT		0.522	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		G	141672558	A	G	141672558	3	3	339	1	0	0	0	0	1	0	0	0	15580	101	4	3	73	3	TAS2R38	7	141672558	Missense_Mutation	SNP	A	TCGA-BP-4346-01A-01D-1366-10	42649755	141672558	17466105	20	19617											
ASPH	444	hgsc.bcm.edu;ucsc.edu	37	8	62577970	62577970	+	Intron	SNP	T	T	A			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr8:62577970T>A	ENST00000379454.4	-	4	510				ASPH_ENST00000356457.5_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000389204.4_Missense_Mutation_p.E173V|ASPH_ENST00000522603.1_Missense_Mutation_p.E158V|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517903.1_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						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)	agcacttttttctaggtccac	0.383																																																0													176	149	158					8																	62577970		2203	4300	6503	SO:0001627	intron_variant	444			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.323-11751A>T	8.37:g.62577970T>A			A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	7.253	0.603690	0.14002	.	.	ENSG00000198363	ENST00000389204;ENST00000522603	T;T	0.68181	-0.31;-0.31	4.53	3.35	0.38373	.	.	.	.	.	T	0.57198	0.2037	.	.	.	0.23751	N	0.996949	B;B	0.29716	0.255;0.255	B;B	0.38056	0.264;0.179	T	0.48948	-0.8989	8	0.28530	T	0.3	.	8.3973	0.32564	0.0:0.0933:0.0:0.9067	.	158;173	Q12797-4;Q12797-3	.;.	V	173;158	ENSP00000373856:E173V;ENSP00000436188:E158V	ENSP00000373856:E173V	E	-	2	0	ASPH	62740524	0.075000	0.21258	0.005000	0.12908	0.157000	0.22087	1.863000	0.39459	0.839000	0.34971	0.533000	0.62120	GAA		0.383	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		A	62577970	T	A	62577970	1	1	339	0	1	0	0	0	0	0	0	0	1053	1783	62	5		5	ASPH	8	62577970	Intron	SNP	T	TCGA-BP-4346-01A-01D-1366-10		62577970	83786052	21	19618											
VCP	7415	hgsc.bcm.edu;ucsc.edu	37	9	35059494	35059494	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr9:35059494G>A	ENST00000358901.6	-	14	2895	c.2000C>T	c.(1999-2001)gCc>gTc	p.A667V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	667					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACCTGCCTTGGCAACTGGGGA	0.542																																																0													79	66	70					9																	35059494		2203	4300	6503	SO:0001583	missense	7415			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.2000C>T	9.37:g.35059494G>A	ENSP00000351777:p.Ala667Val		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482359	0.84747	.	.	ENSG00000165280	ENST00000358901	D	0.94862	-3.54	6.07	6.07	0.98685	.	0.231439	0.51477	D	0.000082	D	0.94275	0.8161	M	0.67953	2.075	0.80722	D	1	P	0.42456	0.78	B	0.40165	0.321	D	0.94330	0.7561	10	0.87932	D	0	-29.8665	20.6439	0.99570	0.0:0.0:1.0:0.0	.	667	P55072	TERA_HUMAN	V	667	ENSP00000351777:A667V	ENSP00000351777:A667V	A	-	2	0	VCP	35049494	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.140000	0.71738	2.884000	0.98904	0.655000	0.94253	GCC		0.542	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		A	35059494	G	A	35059494	3	1	339	1	0	0	0	0	1	0	0	0	17145	1203	42	2	436	2	VCP	9	35059494	Missense_Mutation	SNP	G	TCGA-BP-4346-01A-01D-1366-10		35059494	106153937	22	19619											
COL15A1	1306	hgsc.bcm.edu	37	9	101748184	101748184	+	Silent	SNP	C	C	A	rs7045978	byFrequency	TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr9:101748184C>A	ENST00000375001.3	+	3	861	c.438C>A	c.(436-438)tcC>tcA	p.S146S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	146	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCCATGTGTCCCAAGAGGCTG	0.607																																																0													107	100	102					9																	101748184		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.438C>A	9.37:g.101748184C>A			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.607	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101748184	C	A	101748184	2	1	339	1	0	0	0	0	0	0	0	1	3674	610	22	4		4	COL15A1	9	101748184	Silent	SNP	C	TCGA-BP-4346-01A-01D-1366-10	66688690	101748184	39465247	23	19620											
DCHS1	8642	hgsc.bcm.edu	37	11	6646503	6646503	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr11:6646503C>A	ENST00000299441.3	-	19	7483	c.7072G>T	c.(7072-7074)Ggc>Tgc	p.G2358C	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2358	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGCACGGCCCTCATGAGGC	0.592																																																0													85	79	81					11																	6646503		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7072G>T	11.37:g.6646503C>A	ENSP00000299441:p.Gly2358Cys		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654756	0.47467	.	.	ENSG00000166341	ENST00000299441	T	0.54866	0.55	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	0.000000	0.43747	D	0.000533	T	0.67590	0.2909	M	0.79475	2.455	0.34854	D	0.741943	D	0.76494	0.999	D	0.68192	0.956	T	0.77021	-0.2742	10	0.66056	D	0.02	.	6.99	0.24750	0.0:0.7326:0.1768:0.0906	.	2358	Q96JQ0	PCD16_HUMAN	C	2358	ENSP00000299441:G2358C	ENSP00000299441:G2358C	G	-	1	0	DCHS1	6603079	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.861000	0.62969	2.563000	0.86464	0.655000	0.94253	GGC		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		A	6646503	C	A	6646503	3	1	339	1	0	0	0	0	1	0	0	0	4289	623	22	4	2836	4	DCHS1	11	6646503	Missense_Mutation	SNP	C	TCGA-BP-4346-01A-01D-1366-10		6646503	128360013	24	19621											
CCDC88B	283234	hgsc.bcm.edu;ucsc.edu	37	11	64121227	64121227	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr11:64121227G>A	ENST00000356786.5	+	23	3918	c.3874G>A	c.(3874-3876)Gtg>Atg	p.V1292M	CCDC88B_ENST00000359902.2_Missense_Mutation_p.V444M|CCDC88B_ENST00000301897.4_Silent_p.S10S|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1292						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGAAGCTCGTGGAGAAGAT	0.632																																																0													165	158	160					11																	64121227		2201	4297	6498	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3874G>A	11.37:g.64121227G>A	ENSP00000349238:p.Val1292Met		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	18.11	3.549701	0.65311	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.58940	0.3;0.3	3.11	3.11	0.35812	.	.	.	.	.	T	0.64583	0.2611	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.934;0.994;0.995	T	0.66296	-0.5959	9	0.72032	D	0.01	.	9.8582	0.41098	0.0:0.0:1.0:0.0	.	1292;1174;428;1292	B2RTU8;A6NC98-4;A6NC98-5;A6NC98	.;.;.;CC88B_HUMAN	M	1174;1292;444	ENSP00000349238:V1292M;ENSP00000352974:V444M	ENSP00000349238:V1292M	V	+	1	0	CCDC88B	63877803	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.733000	0.55029	1.735000	0.51646	0.462000	0.41574	GTG		0.632	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		A	64121227	G	A	64121227	3	1	339	1	0	0	0	0	1	0	0	0	2866	1145	40	1	3964	1	CCDC88B	11	64121227	Missense_Mutation	SNP	G	TCGA-BP-4346-01A-01D-1366-10	57474724	64121227	70885289	25	19622											
RPS3	6188	hgsc.bcm.edu	37	11	75113406	75113406	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr11:75113406A>C	ENST00000531188.1	+	4	328	c.266A>C	c.(265-267)gAa>gCa	p.E89A	RPS3_ENST00000534440.1_Missense_Mutation_p.E89A|RPS3_ENST00000524851.1_Missense_Mutation_p.E89A|RPS3_ENST00000530164.1_Missense_Mutation_p.E89A|RPS3_ENST00000529285.1_3'UTR|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000526608.1_Intron|RPS3_ENST00000527446.1_Missense_Mutation_p.E89A|RPS3_ENST00000278572.6_Missense_Mutation_p.E105A|SNORD15A_ENST00000384214.1_RNA	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	89	KH type-2. {ECO:0000255|PROSITE- ProRule:PRU00118}.				cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CTTTATGCTGAAAAGGTGGCC	0.458																																																0													111	109	109					11																	75113406		2200	4293	6493	SO:0001583	missense	6188				CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"S ribosomal proteins"	10420	protein-coding gene	gene with protein product	"IMR-90 ribosomal protein S3", "40S ribosomal protein S3"	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.266A>C	11.37:g.75113406A>C	ENSP00000434643:p.Glu89Ala		B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	CCDS8236.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198376	0.79015	.	.	ENSG00000149273	ENST00000531188;ENST00000530164;ENST00000530689;ENST00000278572;ENST00000534440;ENST00000527446;ENST00000524851	.	.	.	4.9	4.9	0.64082	K Homology (1);K homology domain-like, alpha/beta (1);K Homology, prokaryotic type (1);K Homology, type 2 (2);	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.93594	3.435	0.80722	D	1	B	0.28400	0.21	P	0.45913	0.497	D	0.85670	0.1294	9	0.56958	D	0.05	-12.9159	12.5319	0.56120	1.0:0.0:0.0:0.0	.	89	P23396	RS3_HUMAN	A	89;89;89;105;89;89;89	.	ENSP00000278572:E105A	E	+	2	0	RPS3	74791054	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.109000	0.94291	2.077000	0.62373	0.482000	0.46254	GAA		0.458	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		C	75113406	A	C	75113406	3	2	339	1	0	0	0	0	1	0	0	0	13649	246	9	5	280	5	RPS3	11	75113406	Missense_Mutation	SNP	A	TCGA-BP-4346-01A-01D-1366-10	10992179	75113406	59893110	26	19623											
TMPRSS12	283471	hgsc.bcm.edu;ucsc.edu	37	12	51252806	51252806	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr12:51252806A>G	ENST00000398458.3	+	3	654	c.622A>G	c.(622-624)Ata>Gta	p.I208V	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.I208V	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AAAGTGTTTTATAAGTGGCTG	0.353																																																0													45	43	44					12																	51252806		1825	4087	5912	SO:0001583	missense	283471			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"Serine peptidases / Transmembrane"	28779	protein-coding gene	gene with protein product			"transmembrane protease, serine 12"				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.622A>G	12.37:g.51252806A>G	ENSP00000381476:p.Ile208Val		B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	A	7.320	0.616800	0.14129	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	D;D	0.86366	-2.11;-2.11	5.89	2.28	0.28536	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.085474	0.49916	N	0.000130	T	0.71804	0.3383	N	0.04018	-0.295	0.31074	N	0.712653	P;P	0.43477	0.808;0.619	P;B	0.47162	0.54;0.172	T	0.71262	-0.4645	10	0.06099	T	0.92	-22.289	8.6627	0.34101	0.7864:0.0:0.2136:0.0	.	208;208	F8WBX2;Q86WS5	.;TMPSC_HUMAN	V	208	ENSP00000447259:I208V;ENSP00000381476:I208V	ENSP00000381476:I208V	I	+	1	0	TMPRSS12	49539073	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.298000	0.33412	1.011000	0.39340	0.455000	0.32223	ATA		0.353	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		G	51252806	A	G	51252806	3	3	339	1	0	0	0	0	1	0	0	0	16249	449	16	3	632	3	TMPRSS12	12	51252806	Missense_Mutation	SNP	A	TCGA-BP-4346-01A-01D-1366-10		51252806	82599089	27	19624											
SDR9C7	121214	hgsc.bcm.edu	37	12	57323228	57323228	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr12:57323228C>T	ENST00000293502.1	-	3	813	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	224					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GGCAGCCTCTCCCAAAGCTTT	0.572																																																0													106	94	98					12																	57323228		2203	4300	6503	SO:0001583	missense	121214			AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.670G>A	12.37:g.57323228C>T	ENSP00000293502:p.Glu224Lys		B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	C	9.224	1.034236	0.19590	.	.	ENSG00000170426	ENST00000293502	D	0.89343	-2.5	5.45	2.66	0.31614	NAD(P)-binding domain (1);	1.444650	0.03997	N	0.295833	D	0.84723	0.5535	L	0.41824	1.3	0.23735	N	0.996985	B	0.06786	0.001	B	0.09377	0.004	T	0.65990	-0.6034	10	0.27082	T	0.32	.	8.4767	0.33018	0.0:0.6934:0.0:0.3066	.	224	Q8NEX9	DR9C7_HUMAN	K	224	ENSP00000293502:E224K	ENSP00000293502:E224K	E	-	1	0	SDR9C7	55609495	0.001000	0.12720	0.953000	0.39169	0.574000	0.36063	-0.082000	0.11304	0.383000	0.24910	0.650000	0.86243	GAG		0.572	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		T	57323228	C	T	57323228	3	4	339	1	0	0	0	0	1	0	0	0	13980	864	30	2	279	2	SDR9C7	12	57323228	Missense_Mutation	SNP	C	TCGA-BP-4346-01A-01D-1366-10	6070422	57323228	76528667	28	19625											
FAM179B	23116	hgsc.bcm.edu	37	14	45514044	45514044	+	Silent	SNP	A	A	G			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr14:45514044A>G	ENST00000361577.3	+	13	4339	c.4125A>G	c.(4123-4125)gcA>gcG	p.A1375A	FAM179B_ENST00000361462.2_Silent_p.A1375A|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1375										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTGCACGTGCAGTTGTTTCTC	0.343																																																0													79	76	77					14																	45514044		2202	4300	6502	SO:0001819	synonymous_variant	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4125A>G	14.37:g.45514044A>G			Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	CCDS9681.1																																																																																				0.343	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		G	45514044	A	G	45514044	2	3	339	1	0	0	0	0	0	0	0	1	5508	175	7	3		3	FAM179B	14	45514044	Silent	SNP	A	TCGA-BP-4346-01A-01D-1366-10		45514044	61835496	29	19626											
SDCCAG1	9147	hgsc.bcm.edu;ucsc.edu	37	14	50312885	50312885	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr14:50312885G>C	ENST00000298310.5	-	4	779	c.330C>G	c.(328-330)taC>taG	p.Y110*	NEMF_ENST00000556672.1_Nonsense_Mutation_p.Y110*|NEMF_ENST00000545773.1_Intron|AL627171.1_ENST00000358799.1_5'Flank|NEMF_ENST00000546046.1_Nonsense_Mutation_p.Y110*			O60524	NEMF_HUMAN	nuclear export mediator factor	110					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						TGATTAAATGGTAAGCAGCTT	0.338																																																0													91	86	87					14																	50312885		2203	4300	6503	SO:0001587	stop_gained	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.330C>G	14.37:g.50312885G>C	ENSP00000298310:p.Tyr110*		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Nonsense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387893	0.61956	.	.	ENSG00000165525	ENST00000298310;ENST00000546046;ENST00000556672	.	.	.	5.29	4.15	0.48705	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.858	8.5809	0.33628	0.7742:0.0:0.2258:0.0	.	.	.	.	X	110	.	ENSP00000298310:Y110X	Y	-	3	2	NEMF	49382635	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.701000	0.54793	0.338000	0.23692	-0.490000	0.04691	TAC		0.338	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		C	50312885	G	C	50312885	4	2	339	1	0	0	0	0	0	1	0	0	13963	1256	44	4	3020	4	SDCCAG1	14	50312885	Nonsense_Mutation	SNP	G	TCGA-BP-4346-01A-01D-1366-10	4798841	50312885	57036655	30	19627											
PLEKHH1	57475	hgsc.bcm.edu;ucsc.edu	37	14	68040063	68040063	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr14:68040063T>G	ENST00000329153.5	+	12	1931	c.1799T>G	c.(1798-1800)tTt>tGt	p.F600C		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	600	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGCGCTGGTTTGTCCTGAGA	0.547																																																0													73	78	76					14																	68040063		2077	4235	6312	SO:0001583	missense	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1799T>G	14.37:g.68040063T>G	ENSP00000330278:p.Phe600Cys		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821944	0.90873	.	.	ENSG00000054690	ENST00000329153	T	0.07688	3.17	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051844	0.85682	D	0.000000	T	0.32704	0.0838	M	0.85710	2.77	0.80722	D	1	D;D	0.62365	0.991;0.971	D;D	0.68943	0.961;0.928	T	0.14420	-1.0473	10	0.87932	D	0	.	15.5421	0.76062	0.0:0.0:0.0:1.0	.	115;600	Q9ULM0-2;Q9ULM0	.;PKHH1_HUMAN	C	600	ENSP00000330278:F600C	ENSP00000330278:F600C	F	+	2	0	PLEKHH1	67109816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.868000	0.87116	2.254000	0.74563	0.460000	0.39030	TTT		0.547	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		G	68040063	T	G	68040063	3	3	339	1	0	0	0	0	1	0	0	0	12078	1841	64	5	1841	5	PLEKHH1	14	68040063	Missense_Mutation	SNP	T	TCGA-BP-4346-01A-01D-1366-10	17727178	68040063	39309477	31	19628											
CPSF2	53981	hgsc.bcm.edu;ucsc.edu	37	14	92604675	92604675	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr14:92604675A>T	ENST00000298875.4	+	7	930	c.645A>T	c.(643-645)agA>agT	p.R215S		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	215					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GAAAACAGAGAGATGAGCAGC	0.343																																					Ovarian(78;28 1788 18702 44111)											0													114	113	114					14																	92604675		2203	4300	6503	SO:0001583	missense	53981			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.645A>T	14.37:g.92604675A>T	ENSP00000298875:p.Arg215Ser		B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.869126	0.72065	.	.	ENSG00000165934	ENST00000298875	T	0.55052	0.54	5.74	3.01	0.34805	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.76509	-0.2933	10	0.87932	D	0	.	7.8164	0.29263	0.6918:0.0:0.3082:0.0	.	215	Q9P2I0	CPSF2_HUMAN	S	215	ENSP00000298875:R215S	ENSP00000298875:R215S	R	+	3	2	CPSF2	91674428	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.172000	0.31908	0.963000	0.38082	0.533000	0.62120	AGA		0.343	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			T	92604675	A	T	92604675	3	4	339	1	0	0	0	0	1	0	0	0	3827	301	11	5	663	5	CPSF2	14	92604675	Missense_Mutation	SNP	A	TCGA-BP-4346-01A-01D-1366-10	24564612	92604675	14744865	32	19629											
PAK6	56924	hgsc.bcm.edu;ucsc.edu	37	15	40564426	40564426	+	Splice_Site	SNP	C	C	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr15:40564426C>T	ENST00000542403.2	+	4	971	c.860C>T	c.(859-861)cCc>cTc	p.P287L	PAK6_ENST00000260404.4_Splice_Site_p.P287L|PAK6_ENST00000455577.2_Splice_Site_p.P287L|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Splice_Site_p.P287L|PAK6_ENST00000441369.1_Splice_Site_p.P287L|PAK6_ENST00000453867.1_Splice_Site_p.P287L	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	287	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TCCCTGCAGCCCAACTCCTCT	0.647																																																0													79	93	88					15																	40564426		2203	4300	6503	SO:0001630	splice_region_variant	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.859-1C>T	15.37:g.40564426C>T			A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793235	0.50102	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.75704	-0.88;-0.88;-0.96;-0.88;-0.88	5.02	2.06	0.26882	.	0.764422	0.12595	N	0.455216	T	0.62171	0.2406	L	0.29908	0.895	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.003;0.007	T	0.54289	-0.8316	10	0.62326	D	0.03	.	9.2675	0.37650	0.0:0.7726:0.0:0.2274	.	287;287	Q9NQU5;G5E9R2	PAK6_HUMAN;.	L	287	ENSP00000406873:P287L;ENSP00000401153:P287L;ENSP00000409465:P287L;ENSP00000260404:P287L;ENSP00000439597:P287L	ENSP00000260404:P287L	P	+	2	0	PAK6	38351718	0.965000	0.33210	0.985000	0.45067	0.934000	0.57294	1.971000	0.40530	0.232000	0.21100	0.555000	0.69702	CCC		0.647	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1		Missense_Mutation	T	40564426	C	T	40564426	5	4	339	1	0	0	0	0	0	0	1	0	11406	637	22	2	870	2	PAK6	15	40564426	Splice_Site	SNP	C	TCGA-BP-4346-01A-01D-1366-10		40564426	61966966	33	19630											
UBN1	29855	hgsc.bcm.edu	37	16	4911047	4911047	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr16:4911047T>C	ENST00000396658.4	+	6	1757	c.1054T>C	c.(1054-1056)Tct>Cct	p.S352P	UBN1_ENST00000545171.1_Missense_Mutation_p.S352P|UBN1_ENST00000590769.1_Missense_Mutation_p.S352P|UBN1_ENST00000262376.6_Missense_Mutation_p.S352P|UBN1_ENST00000585857.1_3'UTR	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	352					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCAGCCCTCTTCTCTCCCCGA	0.577																																																0													47	49	48					16																	4911047		2197	4300	6497	SO:0001583	missense	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1054T>C	16.37:g.4911047T>C	ENSP00000379894:p.Ser352Pro		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583414	0.46006	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.45668	1.47;0.89;1.47	5.87	2.09	0.27110	.	0.120365	0.56097	D	0.000021	T	0.27900	0.0687	L	0.40543	1.245	0.29734	N	0.837686	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.12192	-1.0557	10	0.37606	T	0.19	-6.8685	4.2918	0.10881	0.1133:0.064:0.2353:0.5873	.	352;352	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	P	352	ENSP00000262376:S352P;ENSP00000442379:S352P;ENSP00000379894:S352P	ENSP00000262376:S352P	S	+	1	0	UBN1	4851048	0.912000	0.30974	0.983000	0.44433	0.989000	0.77384	1.570000	0.36439	0.524000	0.28502	0.533000	0.62120	TCT		0.577	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		C	4911047	T	C	4911047	3	2	339	1	0	0	0	0	1	0	0	0	16897	1783	62	3	1076	3	UBN1	16	4911047	Missense_Mutation	SNP	T	TCGA-BP-4346-01A-01D-1366-10		4911047	85443706	34	19631											
SLC6A2	6530	hgsc.bcm.edu	37	16	55734212	55734212	+	Silent	SNP	T	T	C			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr16:55734212T>C	ENST00000379906.2	+	12	2007	c.1752T>C	c.(1750-1752)ctT>ctC	p.L584L	SLC6A2_ENST00000568943.1_Silent_p.L584L|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000567238.1_Silent_p.L479L|SLC6A2_ENST00000566163.1_Silent_p.L539L|SLC6A2_ENST00000219833.8_Silent_p.L584L|SLC6A2_ENST00000561820.1_Silent_p.L584L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	584					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGGGCTCTCTTTGGGAGGTGA	0.642																																																0													50	45	46					16																	55734212		2198	4300	6498	SO:0001819	synonymous_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1752T>C	16.37:g.55734212T>C			B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	CCDS10754.1																																																																																				0.642	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			C	55734212	T	C	55734212	2	2	339	1	0	0	0	0	0	0	0	1	14689	1828	64	3		3	SLC6A2	16	55734212	Silent	SNP	T	TCGA-BP-4346-01A-01D-1366-10	50823165	55734212	34620541	35	19632											
CTU2	9780	hgsc.bcm.edu	37	16	88781504	88781504	+	IGR	SNP	C	C	A	rs368079417		TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr16:88781504C>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000312060.5_Intron|CTU2_ENST00000453996.2_Missense_Mutation_p.R490S|CTU2_ENST00000567949.1_Missense_Mutation_p.R561S|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000378384.3_Missense_Mutation_p.R403S	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GGCCCAGCTCCGCACACAGAG	0.682																																																0													34	38	37					16																	88781504		2185	4288	6473	SO:0001628	intergenic_variant	348180			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88781504C>A			A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365740	0.61513	.	.	ENSG00000174177	ENST00000378384;ENST00000453996	T;T	0.52754	0.65;0.65	5.19	2.96	0.34315	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	L	0.36672	1.1	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.57849	-0.7740	10	0.87932	D	0	.	10.2433	0.43326	0.1771:0.7409:0.0:0.082	.	403;490	Q2VPK5-3;Q2VPK5	.;CTU2_HUMAN	S	403;490	ENSP00000367635:R403S;ENSP00000388320:R490S	ENSP00000367635:R403S	R	+	1	0	CTU2	87309005	0.027000	0.19231	1.000000	0.80357	0.642000	0.38348	0.147000	0.16202	1.326000	0.45319	0.561000	0.74099	CGC		0.682	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		A	88781504	C	A	88781504	1	1	339	0	1	0	0	0	0	0	0	0	4050	652	23	4		4	CTU2	16	88781504	IGR	SNP	C	TCGA-BP-4346-01A-01D-1366-10	33047292	88781504	1573249	36	19633											
FAM83G	644815	hgsc.bcm.edu;ucsc.edu	37	17	18882881	18882881	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr17:18882881C>T	ENST00000388995.6	-	4	1019	c.796G>A	c.(796-798)Gct>Act	p.A266T	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A266T|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A266T			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	266					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCGCACACAGCCCGGTCTCCA	0.587																																																0													50	61	58					17																	18882881		2023	4176	6199	SO:0001583	missense	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.796G>A	17.37:g.18882881C>T	ENSP00000373647:p.Ala266Thr		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	35	5.534371	0.96460	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.12465	2.68;2.68	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.21381	-1.0247	10	0.72032	D	0.01	-28.7186	19.48	0.95005	0.0:1.0:0.0:0.0	.	266	A6ND36	FA83G_HUMAN	T	266	ENSP00000373647:A266T;ENSP00000343279:A266T	ENSP00000343279:A266T	A	-	1	0	FAM83G	18823606	1.000000	0.71417	0.987000	0.45799	0.854000	0.48673	6.037000	0.70956	2.606000	0.88127	0.655000	0.94253	GCT		0.587	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			T	18882881	C	T	18882881	3	4	339	1	0	0	0	0	1	0	0	0	5641	739	26	2	1687	2	FAM83G	17	18882881	Missense_Mutation	SNP	C	TCGA-BP-4346-01A-01D-1366-10		18882881	62312329	37	19634											
BRD4	23476	hgsc.bcm.edu;ucsc.edu	37	19	15366320	15366320	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr19:15366320T>C	ENST00000263377.2	-	10	2056	c.1835A>G	c.(1834-1836)tAt>tGt	p.Y612C	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.Y612C|BRD4_ENST00000371835.4_Missense_Mutation_p.Y612C	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	612	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTCTCCTCATAGGACATAGG	0.602			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													126	111	116					19																	15366320		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1835A>G	19.37:g.15366320T>C	ENSP00000263377:p.Tyr612Cys		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114625	0.77210	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.27720	1.65;1.65;1.65	5.08	5.08	0.68730	.	0.000000	0.56097	D	0.000040	T	0.64271	0.2583	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.995	T	0.74206	-0.3740	10	0.87932	D	0	-11.3676	13.8415	0.63441	0.0:0.0:0.0:1.0	.	612;612;612	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	C	612	ENSP00000263377:Y612C;ENSP00000360901:Y612C;ENSP00000353112:Y612C	ENSP00000263377:Y612C	Y	-	2	0	BRD4	15227320	1.000000	0.71417	0.166000	0.22797	0.994000	0.84299	8.040000	0.89188	1.920000	0.55613	0.482000	0.46254	TAT		0.602	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		C	15366320	T	C	15366320	3	2	339	1	0	0	0	0	1	0	0	0	1506	1406	49	3	2312	3	BRD4	19	15366320	Missense_Mutation	SNP	T	TCGA-BP-4346-01A-01D-1366-10		15366320	43762663	38	19635											
CPAMD8	27151	hgsc.bcm.edu	37	19	17086920	17086920	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr19:17086920C>G	ENST00000443236.1	-	16	1972	c.1941G>C	c.(1939-1941)gaG>gaC	p.E647D	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	600						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTCGACAACCTCCCCAGGTT	0.557																																																0													42	46	45					19																	17086920		2054	4203	6257	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1941G>C	19.37:g.17086920C>G	ENSP00000402505:p.Glu647Asp		Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.004|0.004	-2.380909|-2.380909	0.00205|0.00205	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.89|2.89	-0.328|-0.328	0.12690|0.12690	Alpha-2-macroglobulin, N-terminal 2 (1);|.	0.076489|.	0.50627|.	D|.	0.000114|.	T|T	0.18173|0.18173	0.0436|0.0436	N|N	0.04260|0.04260	-0.245|-0.245	0.36521|0.36521	D|D	0.87016|0.87016	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|T	0.14896|0.14896	-1.0456|-1.0456	9|5	0.11485|.	T|.	0.65|.	.|.	1.0546|1.0546	0.01587|0.01587	0.419:0.2177:0.2295:0.1338|0.419:0.2177:0.2295:0.1338	.|.	600|.	Q8IZJ3|.	CPMD8_HUMAN|.	D|T	647|658	.|.	ENSP00000291440:E647D|.	E|R	-|-	3|2	2|0	CPAMD8|CPAMD8	16947920|16947920	0.137000|0.137000	0.22531|0.22531	0.179000|0.179000	0.23059|0.23059	0.011000|0.011000	0.07611|0.07611	0.281000|0.281000	0.18810|0.18810	0.308000|0.308000	0.22923|0.22923	0.561000|0.561000	0.74099|0.74099	GAG|AGG		0.557	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		G	17086920	C	G	17086920	3	3	339	1	0	0	0	0	1	0	0	0	3797	680	24	4	3965	4	CPAMD8	19	17086920	Missense_Mutation	SNP	C	TCGA-BP-4346-01A-01D-1366-10	1720600	17086920	42042063	39	19636											
SAPS1	22870	hgsc.bcm.edu	37	19	55751267	55751267	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr19:55751267T>A	ENST00000412770.2	-	13	2056	c.1490A>T	c.(1489-1491)gAg>gTg	p.E497V	PPP6R1_ENST00000587283.1_Missense_Mutation_p.E497V	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	497					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CTCCTGCTGCTCGCTGGGCAG	0.642																																																0													40	46	44					19																	55751267		2014	4167	6181	SO:0001583	missense	22870			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1490A>T	19.37:g.55751267T>A	ENSP00000414202:p.Glu497Val		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.655952	0.67586	.	.	ENSG00000105063	ENST00000412770	T	0.49720	0.77	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000012	T	0.51193	0.1660	L	0.33339	1.005	0.46564	D	0.999106	P	0.46064	0.872	P	0.54664	0.758	T	0.50206	-0.8855	10	0.45353	T	0.12	-20.4323	13.9603	0.64175	0.0:0.0:0.0:1.0	.	497	Q9UPN7	PP6R1_HUMAN	V	497	ENSP00000414202:E497V	ENSP00000414202:E497V	E	-	2	0	PPP6R1	60443079	1.000000	0.71417	0.968000	0.41197	0.168000	0.22595	7.272000	0.78516	2.195000	0.70347	0.455000	0.32223	GAG		0.642	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		A	55751267	T	A	55751267	3	1	339	1	0	0	0	0	1	0	0	0	13842	1551	54	5	1203	5	SAPS1	19	55751267	Missense_Mutation	SNP	T	TCGA-BP-4346-01A-01D-1366-10	38664347	55751267	3377716	40	19637											
SETD4	54093	hgsc.bcm.edu	37	21	37418057	37418057	+	Silent	SNP	C	C	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr21:37418057C>T	ENST00000399215.1	-	5	1921	c.549G>A	c.(547-549)ctG>ctA	p.L183L	SETD4_ENST00000332131.4_Silent_p.L183L|SETD4_ENST00000399207.1_Silent_p.L183L|SETD4_ENST00000399205.1_Silent_p.L159L|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399201.1_Silent_p.L159L|SETD4_ENST00000399212.1_Silent_p.L159L|SETD4_ENST00000399208.2_Silent_p.L183L			Q9NVD3	SETD4_HUMAN	SET domain containing 4	183	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CCTCCGCAAACAGAGGCTGCA	0.547																																																0													67	74	72					21																	37418057		2203	4300	6503	SO:0001819	synonymous_variant	54093			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.549G>A	21.37:g.37418057C>T			B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	37	CCDS13640.1																																																																																				0.547	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		T	37418057	C	T	37418057	2	4	339	1	0	0	0	0	0	0	0	1	14139	465	17	2		2	SETD4	21	37418057	Silent	SNP	C	TCGA-BP-4346-01A-01D-1366-10		37418057	10711838	41	19638											
MICAL3	57553	hgsc.bcm.edu;ucsc.edu	37	22	18382260	18382260	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr22:18382260A>C	ENST00000441493.2	-	7	1254	c.902T>G	c.(901-903)aTg>aGg	p.M301R	MICAL3_ENST00000383094.3_Missense_Mutation_p.M301R|MICAL3_ENST00000400561.2_Missense_Mutation_p.M301R|MICAL3_ENST00000444520.1_Missense_Mutation_p.M301R|MICAL3_ENST00000414725.2_Missense_Mutation_p.M301R|MICAL3_ENST00000585038.1_Missense_Mutation_p.M301R|MICAL3_ENST00000207726.7_Missense_Mutation_p.M301R|MICAL3_ENST00000429452.1_Missense_Mutation_p.M301R	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	301	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTTGGCTGTCATAACGAAATA	0.408																																																0													170	137	147					22																	18382260		1568	3582	5150	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.902T>G	22.37:g.18382260A>C	ENSP00000416015:p.Met301Arg		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710578	0.89112	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27;3.27;3.27	5.73	5.73	0.89815	.	0.032147	0.85682	D	0.000000	T	0.40595	0.1123	M	0.93420	3.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.992;0.996;1.0;1.0;0.996	T	0.54741	-0.8248	10	0.87932	D	0	.	16.0337	0.80603	1.0:0.0:0.0:0.0	.	301;301;301;301;301	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	R	301	ENSP00000416015:M301R;ENSP00000414846:M301R;ENSP00000383406:M301R;ENSP00000410315:M301R;ENSP00000391827:M301R;ENSP00000372574:M301R;ENSP00000207726:M301R	ENSP00000207726:M301R	M	-	2	0	XXbac-B461K10.4;MICAL3	16762260	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.310000	0.96267	2.189000	0.69895	0.528000	0.53228	ATG		0.408	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			C	18382260	A	C	18382260	3	2	339	1	0	0	0	0	1	0	0	0	9573	217	8	5	5947	5	MICAL3	22	18382260	Missense_Mutation	SNP	A	TCGA-BP-4346-01A-01D-1366-10		18382260	32922306	42	19639											
MORC2	22880	hgsc.bcm.edu	37	22	31328970	31328970	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chr22:31328970C>A	ENST00000397641.3	-	22	2836	c.2428G>T	c.(2428-2430)Ggc>Tgc	p.G810C	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.G748C			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	810						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GTGACACGGCCCGTGTACCAC	0.562																																																0													280	251	260					22																	31328970		2203	4300	6503	SO:0001583	missense	22880			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2428G>T	22.37:g.31328970C>A	ENSP00000380763:p.Gly810Cys		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37		.	.	.	.	.	.	.	.	.	.	C	35	5.481527	0.96307	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.40225	1.07;1.04	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66248	-0.5971	10	0.87932	D	0	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	810	Q9Y6X9	MORC2_HUMAN	C	810;748	ENSP00000380763:G810C;ENSP00000215862:G748C	ENSP00000215862:G748C	G	-	1	0	MORC2	29658970	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	7.487000	0.81328	2.825000	0.97269	0.655000	0.94253	GGC		0.562	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		A	31328970	C	A	31328970	3	1	339	1	0	0	0	0	1	0	0	0	9704	623	22	4	690	4	MORC2	22	31328970	Missense_Mutation	SNP	C	TCGA-BP-4346-01A-01D-1366-10	12946710	31328970	19975596	43	19640											
TLR8	51311	hgsc.bcm.edu;ucsc.edu	37	X	12937473	12937473	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chrX:12937473G>A	ENST00000218032.6	+	2	401	c.314G>A	c.(313-315)gGa>gAa	p.G105E	TLR8_ENST00000311912.5_Missense_Mutation_p.G123E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	105					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CACCAGAACGGAAATCCCGGT	0.403																																																0													129	131	130					X																	12937473		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.314G>A	X.37:g.12937473G>A	ENSP00000218032:p.Gly105Glu		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.197454	0.01594	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.32515	1.45;1.59	4.77	-0.69	0.11309	.	1.033840	0.07731	N	0.945337	T	0.15522	0.0374	N	0.12961	0.28	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30937	-0.9961	10	0.22706	T	0.39	.	5.4556	0.16588	0.4657:0.0:0.3983:0.136	.	105;123	Q9NR97;D1CS70	TLR8_HUMAN;.	E	105;123	ENSP00000218032:G105E;ENSP00000312082:G123E	ENSP00000218032:G105E	G	+	2	0	TLR8	12847394	0.001000	0.12720	0.003000	0.11579	0.004000	0.04260	0.979000	0.29500	-0.174000	0.10743	-0.407000	0.06327	GGA		0.403	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		A	12937473	G	A	12937473	3	1	339	1	0	0	0	0	1	0	0	0	15962	1174	41	2	320	2	TLR8	23	12937473	Missense_Mutation	SNP	G	TCGA-BP-4346-01A-01D-1366-10		12937473	142333087	44	19641											
RS1	6247	hgsc.bcm.edu	37	X	18660196	18660196	+	Silent	SNP	G	G	A			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chrX:18660196G>A	ENST00000379984.3	-	6	643	c.603C>T	c.(601-603)ctC>ctT	p.L201L	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	201	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCAGCGGGATGAGGCGGATGA	0.627																																																0													69	63	65					X																	18660196		2203	4300	6503	SO:0001819	synonymous_variant	6247			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.603C>T	X.37:g.18660196G>A			Q0QD39	Silent	SNP	ENST00000379984.3	37	CCDS14187.1																																																																																				0.627	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			A	18660196	G	A	18660196	2	1	339	1	0	0	0	0	0	0	0	1	13699	1277	45	2		2	RS1	23	18660196	Silent	SNP	G	TCGA-BP-4346-01A-01D-1366-10	5722723	18660196	136610364	45	19642											
FGD1	2245	hgsc.bcm.edu;ucsc.edu	37	X	54475346	54475346	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chrX:54475346G>A	ENST00000375135.3	-	16	3062	c.2329C>T	c.(2329-2331)Cgc>Tgc	p.R777C		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	777					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGGTTGGAGCGGTTGTTGTCA	0.622																																																0													61	44	50					X																	54475346		2203	4300	6503	SO:0001583	missense	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2329C>T	X.37:g.54475346G>A	ENSP00000364277:p.Arg777Cys		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555216	0.86231	.	.	ENSG00000102302	ENST00000375135	T	0.12984	2.63	5.45	5.45	0.79879	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.56097	D	0.000039	T	0.43612	0.1255	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.49579	-0.8925	10	0.87932	D	0	-12.7389	17.0402	0.86487	0.0:0.0:1.0:0.0	.	777	P98174	FGD1_HUMAN	C	777	ENSP00000364277:R777C	ENSP00000364277:R777C	R	-	1	0	FGD1	54492071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.468000	0.66743	2.287000	0.76781	0.513000	0.50165	CGC		0.622	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		A	54475346	G	A	54475346	3	1	339	1	0	0	0	0	1	0	0	0	5834	1116	39	1	568	1	FGD1	23	54475346	Missense_Mutation	SNP	G	TCGA-BP-4346-01A-01D-1366-10	35815150	54475346	100795214	46	19643											
XPNPEP2	7512	hgsc.bcm.edu	37	X	128886126	128886126	+	Splice_Site	SNP	G	G	T			TCGA-BP-4346-01A-01D-1366-10	TCGA-BP-4346-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	20735253-1ba8-41c9-b4ab-682c1af79b9d	69e027cf-071a-4b3e-97de-c450555f38c1	g.chrX:128886126G>T	ENST00000371106.3	+	10	1014	c.822G>T	c.(820-822)agG>agT	p.R274S		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	274						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CCCCACCCAGGTTGTTTGCAA	0.527																																																0													90	83	85					X																	128886126		2203	4299	6502	SO:0001630	splice_region_variant	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.822-1G>T	X.37:g.128886126G>T			A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	G	5.605	0.296405	0.10622	.	.	ENSG00000122121	ENST00000371106	T	0.73152	-0.72	5.78	0.523	0.17060	.	0.184777	0.64402	N	0.000012	T	0.53318	0.1789	L	0.46885	1.475	0.80722	D	1	B	0.22909	0.077	B	0.20955	0.032	T	0.26189	-1.0110	9	.	.	.	.	2.2466	0.04033	0.1496:0.1164:0.3733:0.3607	.	274	O43895	XPP2_HUMAN	S	274	ENSP00000360147:R274S	.	R	+	3	2	XPNPEP2	128713807	0.966000	0.33281	0.192000	0.23308	0.288000	0.27193	0.795000	0.26972	-0.046000	0.13446	0.529000	0.55759	AGG		0.527	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	Missense_Mutation	T	128886126	G	T	128886126	5	4	339	1	0	0	0	0	0	0	1	0	17448	1275	44	4	860	4	XPNPEP2	23	128886126	Splice_Site	SNP	G	TCGA-BP-4346-01A-01D-1366-10	74410780	128886126	26384434	47	19644											
TAS1R2	80834	hgsc.bcm.edu;ucsc.edu	37	1	19166613	19166613	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr1:19166613C>T	ENST00000375371.3	-	6	2021	c.2000G>A	c.(1999-2001)cGc>cAc	p.R667H		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	667					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCTGTAGGCGCGTGGGAAGCG	0.562																																																0													132	141	138					1																	19166613		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2000G>A	1.37:g.19166613C>T	ENSP00000364520:p.Arg667His		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974528	0.34848	.	.	ENSG00000179002	ENST00000375371	D	0.88124	-2.34	5.22	4.3	0.51218	GPCR, family 3, C-terminal (2);	0.286413	0.24776	N	0.035681	D	0.87877	0.6288	M	0.89214	3.015	0.09310	N	1	B	0.33299	0.407	B	0.34093	0.175	T	0.82444	-0.0454	10	0.49607	T	0.09	.	10.1003	0.42499	0.0:0.9039:0.0:0.0961	.	667	Q8TE23	TS1R2_HUMAN	H	667	ENSP00000364520:R667H	ENSP00000364520:R667H	R	-	2	0	TAS1R2	19039200	0.000000	0.05858	0.007000	0.13788	0.636000	0.38137	0.048000	0.14078	2.438000	0.82558	0.561000	0.74099	CGC		0.562	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19166613	C	T	19166613	3	4	340	1	0	0	0	0	1	0	0	0	15568	768	27	1	523	1	TAS1R2	1	19166613	Missense_Mutation	SNP	C	TCGA-BP-4347-01A-01D-1366-10		19166613	230084008	1	19645											
KIF17	57576	hgsc.bcm.edu	37	1	21042033	21042033	+	Missense_Mutation	SNP	T	T	C	rs35835983	byFrequency	TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr1:21042033T>C	ENST00000247986.2	-	2	641	c.331A>G	c.(331-333)Aga>Gga	p.R111G	KIF17_ENST00000400463.3_Missense_Mutation_p.R111G|KIF17_ENST00000375044.1_Missense_Mutation_p.R11G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	111	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		ATGATGCCTCTCTGGGAGGGC	0.662													T|||	33	0.00658946	0.0015	0.0058	5008	,	,		19393	0.0		0.0249	False		,,,				2504	0.002															0								T	GLY/ARG,GLY/ARG	10,4396	16.8+/-37.8	0,10,2193	87	77	80		331,331	2.3	0.1	1	dbSNP_126	80	135,8465	67.7+/-130.1	3,129,4168	yes	missense,missense	KIF17	NM_001122819.1,NM_020816.2	125,125	3,139,6361	CC,CT,TT		1.5698,0.227,1.1149	probably-damaging,probably-damaging	111/1029,111/1030	21042033	145,12861	2203	4300	6503	SO:0001583	missense	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.331A>G	1.37:g.21042033T>C	ENSP00000247986:p.Arg111Gly		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	28	0.01282051282051282	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	22	0.029023746701846966	T	16.03	3.008129	0.54361	0.00227	0.015698	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.75477	-0.94;-0.94;-0.94	4.75	2.27	0.28462	Kinesin, motor domain (4);	0.231808	0.21774	U	0.069308	T	0.63450	0.2512	M	0.87827	2.91	0.41702	D	0.989409	P;D	0.58620	0.944;0.983	P;P	0.55161	0.596;0.77	T	0.73588	-0.3935	10	0.87932	D	0	.	6.4479	0.21887	0.1454:0.0:0.383:0.4716	rs35835983	111;111	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	G	11;111;111	ENSP00000364184:R11G;ENSP00000383311:R111G;ENSP00000247986:R111G	ENSP00000247986:R111G	R	-	1	2	KIF17	20914620	0.972000	0.33761	0.110000	0.21437	0.548000	0.35241	1.358000	0.34102	0.245000	0.21373	0.533000	0.62120	AGA		0.662	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		C	21042033	T	C	21042033	3	2	340	1	0	0	0	0	1	0	0	0	8281	1559	54	3	2814	3	KIF17	1	21042033	Missense_Mutation	SNP	T	TCGA-BP-4347-01A-01D-1366-10	1875420	21042033	228208588	2	19646											
GPR61	83873	hgsc.bcm.edu;ucsc.edu	37	1	110086265	110086265	+	Silent	SNP	T	T	C			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr1:110086265T>C	ENST00000527748.1	+	2	1304	c.621T>C	c.(619-621)ctT>ctC	p.L207L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACTGCCAGCTTTTTGTGGTGG	0.582																																																0													193	188	190					1																	110086265		2203	4300	6503	SO:0001819	synonymous_variant	83873			AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"GPCR / Class A : Orphans"	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.621T>C	1.37:g.110086265T>C			A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	CCDS801.1																																																																																				0.582	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			C	110086265	T	C	110086265	2	2	340	1	0	0	0	0	0	0	0	1	6704	1828	64	3		3	GPR61	1	110086265	Silent	SNP	T	TCGA-BP-4347-01A-01D-1366-10	89044232	110086265	139164356	3	19647											
SOX13	9580	hgsc.bcm.edu	37	1	204092030	204092030	+	Missense_Mutation	SNP	G	G	A	rs200217733	byFrequency	TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr1:204092030G>A	ENST00000367204.1	+	10	1182	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	358					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGGATGCTCGGCAGCTGCTG	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		20529	0.0		0.001	False		,,,				2504	0.001															0								G	GLN/ARG	4,4062		0,4,2029	27	30	29		1073	5.3	1	1		29	31,8347		0,31,4158	yes	missense	SOX13	NM_005686.2	43	0,35,6187	AA,AG,GG		0.37,0.0984,0.2813	possibly-damaging	358/623	204092030	35,12409	2033	4189	6222	SO:0001583	missense	9580				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1073G>A	1.37:g.204092030G>A	ENSP00000356172:p.Arg358Gln		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	CCDS44299.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	26.2	4.714567	0.89112	9.84E-4	0.0037	ENSG00000143842	ENST00000367204	D	0.98075	-4.7	5.31	5.31	0.75309	.	0.196944	0.46145	D	0.000314	D	0.97977	0.9334	L	0.49571	1.57	0.31830	N	0.624842	D;P;D	0.89917	1.0;0.499;1.0	P;B;D	0.63957	0.859;0.048;0.92	D	0.98055	1.0390	10	0.51188	T	0.08	.	18.5863	0.91191	0.0:0.0:1.0:0.0	.	225;225;358	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	Q	358	ENSP00000356172:R358Q	ENSP00000356172:R358Q	R	+	2	0	SOX13	202358653	1.000000	0.71417	0.967000	0.41034	0.954000	0.61252	6.920000	0.75799	2.481000	0.83766	0.655000	0.94253	CGG		0.612	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		A	204092030	G	A	204092030	3	1	340	1	0	0	0	0	1	0	0	0	14950	1116	39	1	1107	1	SOX13	1	204092030	Missense_Mutation	SNP	G	TCGA-BP-4347-01A-01D-1366-10	94005765	204092030	45158591	4	19648											
PRKCE	5581	hgsc.bcm.edu	37	2	46203638	46203638	+	Silent	SNP	G	G	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr2:46203638G>A	ENST00000306156.3	+	3	810	c.483G>A	c.(481-483)agG>agA	p.R161R		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	161					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GGGCCGTCAGGCGCAGGGTCC	0.582																																																0													59	68	65					2																	46203638		2185	4284	6469	SO:0001819	synonymous_variant	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.483G>A	2.37:g.46203638G>A			B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	ENST00000306156.3	37	CCDS1824.1																																																																																				0.582	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			A	46203638	G	A	46203638	2	1	340	1	0	0	0	0	0	0	0	1	12516	1194	42	2		2	PRKCE	2	46203638	Silent	SNP	G	TCGA-BP-4347-01A-01D-1366-10		46203638	196995735	5	19649											
DYSF	8291	hgsc.bcm.edu;ucsc.edu	37	2	71838425	71838425	+	Silent	SNP	C	C	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr2:71838425C>A	ENST00000258104.3	+	37	4231	c.3954C>A	c.(3952-3954)atC>atA	p.I1318I	DYSF_ENST00000429174.2_Silent_p.I1318I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Silent_p.I1350I|DYSF_ENST00000410020.3_Silent_p.I1336I|DYSF_ENST00000409582.3_Silent_p.I1335I|DYSF_ENST00000413539.2_Silent_p.I1349I|DYSF_ENST00000409762.1_Silent_p.I1335I|DYSF_ENST00000410041.1_Silent_p.I1336I|DYSF_ENST00000409366.1_Silent_p.I1319I|DYSF_ENST00000409744.1_Silent_p.I1305I|DYSF_ENST00000394120.2_Silent_p.I1319I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1318					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGCCAACATCTACATGGTTC	0.622																																																0													76	66	69					2																	71838425		2203	4300	6503	SO:0001819	synonymous_variant	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3954C>A	2.37:g.71838425C>A			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																				0.622	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		A	71838425	C	A	71838425	2	1	340	1	0	0	0	0	0	0	0	1	4861	903	32	4		4	DYSF	2	71838425	Silent	SNP	C	TCGA-BP-4347-01A-01D-1366-10	25634787	71838425	171360948	6	19650											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179665291	179665291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr2:179665291G>T	ENST00000591111.1	-	4	638	c.414C>A	c.(412-414)taC>taA	p.Y138*	TTN_ENST00000589042.1_Nonsense_Mutation_p.Y138*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y138*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y138*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y138*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y138*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Y138*			Q8WZ42	TITIN_HUMAN	titin	32756	Ig-like 2.				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)			CTCCATCCCGGTAGAACTTCA	0.502																																																0													144	126	132					2																	179665291		2203	4300	6503	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.414C>A	2.37:g.179665291G>T	ENSP00000465570:p.Tyr138*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.411301	0.96072	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.95	-1.64	0.08318	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.1399	0.48396	0.6586:0.0:0.3414:0.0	.	.	.	.	X	138	.	ENSP00000340554:Y138X	Y	-	3	2	TTN	179373536	0.999000	0.42202	0.994000	0.49952	0.998000	0.95712	0.573000	0.23699	-0.178000	0.10672	0.563000	0.77884	TAC		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179665291	G	T	179665291	4	4	340	1	0	0	0	0	0	1	0	0	16740	1256	44	4	111010	4	TTN	2	179665291	Nonsense_Mutation	SNP	G	TCGA-BP-4347-01A-01D-1366-10	107826866	179665291	63534082	7	19651											
PSMD1	5707	hgsc.bcm.edu;ucsc.edu	37	2	231937037	231937037	+	Silent	SNP	T	T	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr2:231937037T>A	ENST00000308696.6	+	7	951	c.789T>A	c.(787-789)tcT>tcA	p.S263S	PSMD1_ENST00000409643.1_Silent_p.S263S|PSMD1_ENST00000373635.4_Silent_p.S263S	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	263					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 protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTTTGTCATCTGTAATCCAGA	0.423																																																0													208	206	207					2																	231937037		2203	4300	6503	SO:0001819	synonymous_variant	5707			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.789T>A	2.37:g.231937037T>A			B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	37	CCDS2482.1																																																																																				0.423	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			A	231937037	T	A	231937037	2	1	340	1	0	0	0	0	0	0	0	1	12697	1567	55	5		5	PSMD1	2	231937037	Silent	SNP	T	TCGA-BP-4347-01A-01D-1366-10	52271746	231937037	11262336	8	19652											
MFSD10	10227	hgsc.bcm.edu;ucsc.edu	37	4	2933580	2933580	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr4:2933580G>A	ENST00000329687.4	-	7	1420	c.886C>T	c.(886-888)Ctc>Ttc	p.L296F	MFSD10_ENST00000508221.1_Missense_Mutation_p.L296F|MFSD10_ENST00000355443.4_Missense_Mutation_p.L296F|MFSD10_ENST00000507555.1_Missense_Mutation_p.L296F|MFSD10_ENST00000514800.1_Missense_Mutation_p.L296F	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	296					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGGTGTGTGAGGAAGCTCAGC	0.627																																																0													53	55	55					4																	2933580		2202	4299	6501	SO:0001583	missense	10227			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.886C>T	4.37:g.2933580G>A	ENSP00000332646:p.Leu296Phe		Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705022	0.88924	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	4.68	3.77	0.43336	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.071170	0.56097	D	0.000023	T	0.66187	0.2764	L	0.55213	1.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.999	T	0.66756	-0.5843	10	0.44086	T	0.13	-21.3635	14.1726	0.65519	0.0:0.1508:0.8492:0.0	.	296;296;296;296	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	F	296	ENSP00000426907:L296F;ENSP00000347619:L296F;ENSP00000332646:L296F;ENSP00000425757:L296F;ENSP00000423402:L296F	ENSP00000332646:L296F	L	-	1	0	MFSD10	2903378	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	5.037000	0.64170	2.134000	0.65973	0.555000	0.69702	CTC		0.627	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		A	2933580	G	A	2933580	3	1	340	1	0	0	0	0	1	0	0	0	9530	1000	35	2	505	2	MFSD10	4	2933580	Missense_Mutation	SNP	G	TCGA-BP-4347-01A-01D-1366-10		2933580	188220696	9	19653											
TBL2	26608	hgsc.bcm.edu;ucsc.edu	37	7	72988762	72988762	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr7:72988762T>A	ENST00000305632.5	-	2	453	c.212A>T	c.(211-213)aAg>aTg	p.K71M	TBL2_ENST00000452475.1_Missense_Mutation_p.K71M|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.K35M	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	71							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGTTGAGGCTTCTCCTTCCG	0.537																																																0													293	241	258					7																	72988762		2203	4300	6503	SO:0001583	missense	26608			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.212A>T	7.37:g.72988762T>A	ENSP00000307260:p.Lys71Met		Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480018	0.84747	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.68624	0.27;3.33;-0.34	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);	0.044532	0.85682	D	0.000000	T	0.75280	0.3828	L	0.50333	1.59	0.53005	D	0.999964	D;D	0.76494	0.999;0.999	P;D	0.64042	0.87;0.921	T	0.77552	-0.2545	10	0.66056	D	0.02	-27.3591	13.4473	0.61148	0.0:0.0:0.0:1.0	.	35;71	E9PF19;Q9Y4P3	.;TBL2_HUMAN	M	71;71;35;71	ENSP00000307260:K71M;ENSP00000413979:K35M;ENSP00000407371:K71M	ENSP00000307260:K71M	K	-	2	0	TBL2	72626698	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.902000	0.56310	2.078000	0.62432	0.459000	0.35465	AAG		0.537	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		A	72988762	T	A	72988762	3	1	340	1	0	0	0	0	1	0	0	0	15647	1609	56	5	1155	5	TBL2	7	72988762	Missense_Mutation	SNP	T	TCGA-BP-4347-01A-01D-1366-10		72988762	86149901	10	19654											
ZNHIT1	10467	hgsc.bcm.edu	37	7	100867081	100867081	+	Missense_Mutation	SNP	G	G	T	rs199842287		TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr7:100867081G>T	ENST00000305105.2	+	4	929	c.401G>T	c.(400-402)cGg>cTg	p.R134L	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	134			R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					TGCGGTGCCCGGTACTGCACT	0.667																																																0													91	76	81					7																	100867081		2203	4300	6503	SO:0001583	missense	10467			AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"Zinc fingers, HIT-type"	21688	protein-coding gene	gene with protein product	"putative cyclin G1 interacting protein"		"zinc finger protein, subfamily 4A (HIT domain containing), member 1", "zinc finger, HIT domain containing 1"	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.401G>T	7.37:g.100867081G>T	ENSP00000304593:p.Arg134Leu		Q6IB12	Missense_Mutation	SNP	ENST00000305105.2	37	CCDS5716.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301215	0.95601	.	.	ENSG00000106400	ENST00000305105	T	0.52057	0.68	4.96	4.96	0.65561	Zinc finger, HIT-type (2);	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	M	0.88450	2.955	0.80722	D	1	D	0.55385	0.971	P	0.56563	0.801	T	0.75193	-0.3404	10	0.54805	T	0.06	-33.2427	16.067	0.80891	0.0:0.0:1.0:0.0	.	134	O43257	ZNHI1_HUMAN	L	134	ENSP00000304593:R134L	ENSP00000304593:R134L	R	+	2	0	ZNHIT1	100653801	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.745000	0.91600	2.475000	0.83589	0.549000	0.68633	CGG		0.667	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347488.1	NM_006349		T	100867081	G	T	100867081	3	4	340	1	0	0	0	0	1	0	0	0	18211	1116	39	4	415	4	ZNHIT1	7	100867081	Missense_Mutation	SNP	G	TCGA-BP-4347-01A-01D-1366-10	27878319	100867081	58271582	11	19655											
TAS2R3	50831	hgsc.bcm.edu;ucsc.edu	37	7	141464727	141464727	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr7:141464727A>G	ENST00000247879.2	+	1	831	c.769A>G	c.(769-771)Aat>Gat	p.N257D	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	257					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ATCATTTGGTAATTTCCTACC	0.398																																																0													118	109	112					7																	141464727		2203	4300	6503	SO:0001583	missense	50831			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.769A>G	7.37:g.141464727A>G	ENSP00000247879:p.Asn257Asp		A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.529404	0.27387	.	.	ENSG00000127362	ENST00000247879	T	0.36878	1.23	5.18	-9.12	0.00707	.	1.420560	0.04478	N	0.377356	T	0.14700	0.0355	N	0.11131	0.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15694	-1.0428	10	0.41790	T	0.15	.	3.3013	0.06984	0.0958:0.166:0.3692:0.369	.	257	Q9NYW6	TA2R3_HUMAN	D	257	ENSP00000247879:N257D	ENSP00000247879:N257D	N	+	1	0	TAS2R3	141111196	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.978000	0.00664	-1.413000	0.02027	-1.348000	0.01239	AAT		0.398	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			G	141464727	A	G	141464727	3	3	340	1	0	0	0	0	1	0	0	0	15577	362	13	3	771	3	TAS2R3	7	141464727	Missense_Mutation	SNP	A	TCGA-BP-4347-01A-01D-1366-10	40597646	141464727	17673936	12	19656											
UTP23	84294	hgsc.bcm.edu;ucsc.edu	37	8	117783987	117783987	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr8:117783987C>T	ENST00000309822.2	+	3	757	c.656C>T	c.(655-657)tCa>tTa	p.S219L	UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	219					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						GACACACAATCATCTGCTTCT	0.363																																																0													41	45	43					8																	117783987		2194	4286	6480	SO:0001583	missense	84294				CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 53"	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.656C>T	8.37:g.117783987C>T	ENSP00000308332:p.Ser219Leu		B2RE25|Q96NJ8	Missense_Mutation	SNP	ENST00000309822.2	37	CCDS6320.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471476	0.26423	.	.	ENSG00000147679	ENST00000309822	T	0.24151	1.87	5.96	5.96	0.96718	.	0.436998	0.25777	N	0.028376	T	0.21718	0.0523	L	0.31664	0.95	0.49582	D	0.999801	B	0.12630	0.006	B	0.08055	0.003	T	0.01725	-1.1287	10	0.51188	T	0.08	1.3219	15.0326	0.71720	0.1753:0.8247:0.0:0.0	.	219	Q9BRU9	UTP23_HUMAN	L	219	ENSP00000308332:S219L	ENSP00000308332:S219L	S	+	2	0	UTP23	117853168	0.023000	0.18921	0.397000	0.26308	0.388000	0.30384	2.825000	0.48096	2.826000	0.97356	0.655000	0.94253	TCA		0.363	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		T	117783987	C	T	117783987	3	4	340	1	0	0	0	0	1	0	0	0	17105	838	29	2	666	2	UTP23	8	117783987	Missense_Mutation	SNP	C	TCGA-BP-4347-01A-01D-1366-10		117783987	28580035	13	19657											
KANK1	23189	hgsc.bcm.edu;ucsc.edu	37	9	712578	712578	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr9:712578C>A	ENST00000382303.1	+	7	2464	c.1812C>A	c.(1810-1812)agC>agA	p.S604R	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.S604R|KANK1_ENST00000382293.3_Missense_Mutation_p.S446R	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	604					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AAACAGGCAGCAACACAGAGG	0.493																																																0													193	169	177					9																	712578		2203	4300	6503	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1812C>A	9.37:g.712578C>A	ENSP00000371740:p.Ser604Arg		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214238	0.39102	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.79749	-1.3;-1.3;-1.3	5.96	4.12	0.48240	.	0.084429	0.51477	D	0.000086	T	0.78310	0.4263	L	0.54323	1.7	0.80722	D	1	D;P	0.54397	0.966;0.902	B;P	0.47470	0.445;0.548	T	0.77469	-0.2576	10	0.40728	T	0.16	-17.5898	10.1948	0.43047	0.0:0.7926:0.0:0.2074	.	604;604	Q5W0W1;Q14678	.;KANK1_HUMAN	R	604;604;604;446	ENSP00000371740:S604R;ENSP00000371734:S604R;ENSP00000371730:S446R	ENSP00000346479:S604R	S	+	3	2	KANK1	702578	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.722000	0.25925	1.537000	0.49254	-0.145000	0.13849	AGC		0.493	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		A	712578	C	A	712578	3	1	340	1	0	0	0	0	1	0	0	0	7978	709	25	4	1818	4	KANK1	9	712578	Missense_Mutation	SNP	C	TCGA-BP-4347-01A-01D-1366-10		712578	140500853	14	19658											
C9orf171	389799	hgsc.bcm.edu	37	9	135374869	135374869	+	Missense_Mutation	SNP	C	C	T	rs149346027	byFrequency	TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr9:135374869C>T	ENST00000343036.2	+	4	562	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W	C9orf171_ENST00000393216.2_Missense_Mutation_p.R136W|C9orf171_ENST00000393215.3_Missense_Mutation_p.R136W	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	172			R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.					p.R172W(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GGTGACTGCCCGGGAGAACTT	0.602													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17800	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	large_intestine(1)						C	TRP/ARG	10,4396	17.9+/-39.9	0,10,2193	84	85	85		514	2.1	0.9	9	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C9orf171	NM_207417.1	101	0,12,6491	TT,TC,CC		0.0233,0.227,0.0923	probably-damaging	172/321	135374869	12,12994	2203	4300	6503	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.514C>T	9.37:g.135374869C>T	ENSP00000343290:p.Arg172Trp		Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537088	0.65085	0.00227	2.33E-4	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.24538	1.85;1.85;1.85	5.26	2.09	0.27110	.	0.630262	0.15447	N	0.261890	T	0.39358	0.1075	L	0.43152	1.355	0.25878	N	0.983629	D;D	0.89917	0.997;1.0	P;P	0.62885	0.787;0.908	T	0.28106	-1.0054	10	0.72032	D	0.01	.	13.8143	0.63281	0.392:0.608:0.0:0.0	.	136;172	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	W	136;172;136	ENSP00000376908:R136W;ENSP00000343290:R172W;ENSP00000376909:R136W	ENSP00000343290:R172W	R	+	1	2	C9orf171	134364690	0.879000	0.30193	0.950000	0.38849	0.656000	0.38851	0.985000	0.29578	0.654000	0.30846	0.561000	0.74099	CGG		0.602	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		T	135374869	C	T	135374869	3	4	340	1	0	0	0	0	1	0	0	0	2472	643	23	1	528	1	C9orf171	9	135374869	Missense_Mutation	SNP	C	TCGA-BP-4347-01A-01D-1366-10	134662291	135374869	5838562	15	19659											
PTER	9317	hgsc.bcm.edu;ucsc.edu	37	10	16547025	16547025	+	Silent	SNP	T	T	C			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr10:16547025T>C	ENST00000378000.1	+	5	951	c.705T>C	c.(703-705)atT>atC	p.I235I	PTER_ENST00000423462.2_Intron|PTER_ENST00000298942.3_Silent_p.I235I|PTER_ENST00000535784.2_Silent_p.I235I	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	235					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CTAGGACTATTCTTGATAAGA	0.383																																					Ovarian(2;46 150 15648 38137 47908)											0													177	168	171					10																	16547025		2203	4300	6503	SO:0001819	synonymous_variant	9317			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.705T>C	10.37:g.16547025T>C			B0YJ77|B3KTF5|D3DRU0|Q9BY46	Silent	SNP	ENST00000378000.1	37	CCDS7111.1																																																																																				0.383	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		C	16547025	T	C	16547025	2	2	340	1	0	0	0	0	0	0	0	1	12744	1771	62	3		3	PTER	10	16547025	Silent	SNP	T	TCGA-BP-4347-01A-01D-1366-10		16547025	118987722	16	19660											
RRP12	23223	hgsc.bcm.edu;ucsc.edu	37	10	99148128	99148128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr10:99148128C>A	ENST00000370992.4	-	8	1009	c.898G>T	c.(898-900)Gag>Tag	p.E300*	RRP12_ENST00000315563.6_Nonsense_Mutation_p.E200*|RRP12_ENST00000414986.1_Nonsense_Mutation_p.E239*|RRP12_ENST00000536831.1_Intron	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	300						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GTGGTGGCCTCCTTGGAGCCT	0.632																																																0													73	72	72					10																	99148128		2203	4300	6503	SO:0001587	stop_gained	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.898G>T	10.37:g.99148128C>A	ENSP00000360031:p.Glu300*		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Nonsense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	39	7.679027	0.98428	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-35.4637	19.7274	0.96170	0.0:1.0:0.0:0.0	.	.	.	.	X	300;200;239	.	ENSP00000324315:E200X	E	-	1	0	RRP12	99138118	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.811000	0.69187	2.662000	0.90505	0.561000	0.74099	GAG		0.632	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		A	99148128	C	A	99148128	4	1	340	1	0	0	0	0	0	1	0	0	13692	864	30	4	3103	4	RRP12	10	99148128	Nonsense_Mutation	SNP	C	TCGA-BP-4347-01A-01D-1366-10	82601103	99148128	36386619	17	19661											
CLRN3	119467	hgsc.bcm.edu;ucsc.edu	37	10	129690978	129690978	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr10:129690978A>T	ENST00000368671.3	-	1	233	c.71T>A	c.(70-72)aTt>aAt	p.I24N		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	24						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AATAGAGCAAATTACAATGAA	0.398																																																0													116	104	108					10																	129690978		2203	4300	6503	SO:0001583	missense	119467			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"transmembrane protein 12"	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.71T>A	10.37:g.129690978A>T	ENSP00000357660:p.Ile24Asn		Q6MZX8	Missense_Mutation	SNP	ENST00000368671.3	37	CCDS7656.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.186180	0.57909	.	.	ENSG00000180745	ENST00000368671	T	0.70631	-0.5	5.52	4.37	0.52481	.	0.416972	0.23779	N	0.044642	T	0.75332	0.3835	L	0.53249	1.67	0.09310	N	1	D	0.58970	0.984	P	0.58331	0.837	T	0.67273	-0.5712	10	0.87932	D	0	.	9.5078	0.39058	0.9175:0.0:0.0825:0.0	.	24	Q8NCR9	CLRN3_HUMAN	N	24	ENSP00000357660:I24N	ENSP00000357660:I24N	I	-	2	0	CLRN3	129580968	0.007000	0.16637	0.007000	0.13788	0.125000	0.20455	2.176000	0.42500	2.323000	0.78572	0.533000	0.62120	ATT		0.398	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311		T	129690978	A	T	129690978	3	4	340	1	0	0	0	0	1	0	0	0	3561	101	4	5	621	5	CLRN3	10	129690978	Missense_Mutation	SNP	A	TCGA-BP-4347-01A-01D-1366-10	30542850	129690978	5843769	18	19662											
NARS2	79731	hgsc.bcm.edu;ucsc.edu	37	11	78152161	78152161	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr11:78152161G>A	ENST00000281038.5	-	13	1640	c.1265C>T	c.(1264-1266)tCg>tTg	p.S422L	NARS2_ENST00000528850.1_Missense_Mutation_p.S195L|RP11-452H21.1_ENST00000534168.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	422					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGTAAGTCCCGATCTGTTTAA	0.368																																																0													116	117	117					11																	78152161		2200	4292	6492	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1265C>T	11.37:g.78152161G>A	ENSP00000281038:p.Ser422Leu		G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	G	0.159	-1.083307	0.01888	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	T;T	0.78126	-1.15;-1.15	5.27	-1.86	0.07760	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.948669	0.08800	N	0.891972	T	0.36908	0.0984	N	0.00155	-1.965	0.23882	N	0.996571	B	0.06786	0.001	B	0.04013	0.001	T	0.40021	-0.9585	10	0.09084	T	0.74	4.2631	11.0309	0.47772	0.7865:0.0:0.2135:0.0	.	422	Q96I59	SYNM_HUMAN	L	422;195	ENSP00000281038:S422L;ENSP00000432635:S195L	ENSP00000281038:S422L	S	-	2	0	NARS2	77829809	0.071000	0.21146	0.930000	0.37139	0.234000	0.25298	-0.038000	0.12144	-0.166000	0.10890	-0.136000	0.14681	TCG		0.368	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		A	78152161	G	A	78152161	3	1	340	1	0	0	0	0	1	0	0	0	10173	1059	37	1	176	1	NARS2	11	78152161	Missense_Mutation	SNP	G	TCGA-BP-4347-01A-01D-1366-10		78152161	56854355	19	19663											
NAB2	4665	hgsc.bcm.edu;ucsc.edu	37	12	57485620	57485620	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr12:57485620T>C	ENST00000300131.3	+	2	1174	c.796T>C	c.(796-798)Tcc>Ccc	p.S266P	NAB2_ENST00000342556.6_Missense_Mutation_p.S266P|NAB2_ENST00000357680.4_Missense_Mutation_p.S266P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	266					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGAGGTCACATCCCTGCTAAA	0.542																																																0													119	123	122					12																	57485620		2203	4300	6503	SO:0001583	missense	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.796T>C	12.37:g.57485620T>C	ENSP00000300131:p.Ser266Pro		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254116	0.59212	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.35	4.35	0.52113	NAB co-repressor, domain (1);	0.078821	0.52532	D	0.000078	T	0.63534	0.2519	L	0.40543	1.245	0.37523	D	0.917618	D	0.64830	0.994	D	0.63033	0.91	T	0.68383	-0.5423	9	0.49607	T	0.09	-15.0324	11.5334	0.50624	0.0:0.0:0.0:1.0	.	266	Q15742	NAB2_HUMAN	P	266	.	ENSP00000300131:S266P	S	+	1	0	NAB2	55771887	0.098000	0.21812	0.935000	0.37517	0.994000	0.84299	2.342000	0.43992	1.805000	0.52779	0.379000	0.24179	TCC		0.542	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		C	57485620	T	C	57485620	3	2	340	1	0	0	0	0	1	0	0	0	10134	1435	50	3	802	3	NAB2	12	57485620	Missense_Mutation	SNP	T	TCGA-BP-4347-01A-01D-1366-10		57485620	76366275	20	19664											
SART3	9733	hgsc.bcm.edu;ucsc.edu	37	12	108929189	108929189	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr12:108929189G>C	ENST00000228284.3	-	12	1736	c.1502C>G	c.(1501-1503)aCc>aGc	p.T501S	SART3_ENST00000431469.2_Missense_Mutation_p.T465S	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	501					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						ATTTCCTCTGGTCATGATGCT	0.512									Porokeratosis																																							0													329	292	305					12																	108929189		2203	4300	6503	SO:0001583	missense	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1502C>G	12.37:g.108929189G>C	ENSP00000228284:p.Thr501Ser		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111907	0.37242	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000412617;ENST00000546815	T;T;T	0.32023	1.47;1.47;1.47	5.97	5.97	0.96955	.	0.046700	0.85682	D	0.000000	T	0.19406	0.0466	N	0.11724	0.165	0.80722	D	1	B;B;B;B	0.27971	0.054;0.095;0.196;0.101	B;B;B;B	0.26416	0.028;0.069;0.032;0.047	T	0.08432	-1.0722	10	0.07175	T	0.84	-34.377	20.4238	0.99064	0.0:0.0:1.0:0.0	.	449;519;465;501	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	S	501;465;77;449;519	ENSP00000228284:T501S;ENSP00000414453:T465S;ENSP00000449386:T519S	ENSP00000228284:T501S	T	-	2	0	SART3	107453319	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.828000	0.97474	0.655000	0.94253	ACC		0.512	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			C	108929189	G	C	108929189	3	2	340	1	0	0	0	0	1	0	0	0	13853	1261	44	4	1421	4	SART3	12	108929189	Missense_Mutation	SNP	G	TCGA-BP-4347-01A-01D-1366-10	51443569	108929189	24922706	21	19665											
MIPEP	4285	hgsc.bcm.edu	37	13	24411774	24411774	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr13:24411774G>T	ENST00000382172.3	-	13	1558	c.1460C>A	c.(1459-1461)cCt>cAt	p.P487H		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	487					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CATCATGCTAGGAGTTAGCAA	0.468																																																0													151	143	146					13																	24411774		2203	4300	6503	SO:0001583	missense	4285				CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1460C>A	13.37:g.24411774G>T	ENSP00000371607:p.Pro487His		Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810462	0.90707	.	.	ENSG00000027001	ENST00000382172	T	0.09817	2.94	5.82	5.82	0.92795	Metallopeptidase, catalytic domain (1);	0.046538	0.85682	D	0.000000	T	0.18676	0.0448	N	0.25789	0.76	0.80722	D	1	P	0.49862	0.929	P	0.59357	0.856	T	0.05649	-1.0872	10	0.11182	T	0.66	.	20.1022	0.97879	0.0:0.0:1.0:0.0	.	487	Q99797	MIPEP_HUMAN	H	487	ENSP00000371607:P487H	ENSP00000371607:P487H	P	-	2	0	MIPEP	23309774	1.000000	0.71417	0.991000	0.47740	0.899000	0.52679	9.727000	0.98787	2.759000	0.94783	0.555000	0.69702	CCT		0.468	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			T	24411774	G	T	24411774	3	4	340	1	0	0	0	0	1	0	0	0	9594	1000	35	4	709	4	MIPEP	13	24411774	Missense_Mutation	SNP	G	TCGA-BP-4347-01A-01D-1366-10		24411774	90758104	22	19666											
RNF113B	140432	hgsc.bcm.edu	37	13	98828965	98828965	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr13:98828965G>T	ENST00000267291.6	-	1	554	c.526C>A	c.(526-528)Ccc>Acc	p.P176T	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	176							zinc ion binding (GO:0008270)	p.P176S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GCACGTATGGGGCCCTTCCTC	0.617																																																1	Substitution - Missense(1)	central_nervous_system(1)											82	70	74					13																	98828965		2203	4300	6503	SO:0001583	missense	140432			AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"RING-type (C3HC4) zinc fingers"	17267	protein-coding gene	gene with protein product			"zinc finger protein 183-like 1"	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.526C>A	13.37:g.98828965G>T	ENSP00000267291:p.Pro176Thr		Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.979142	0.34942	.	.	ENSG00000139797	ENST00000267291	T	0.52754	0.65	1.16	1.16	0.20824	.	0.215793	0.38959	U	0.001509	T	0.70046	0.3179	M	0.92219	3.285	0.46317	D	0.998981	D	0.89917	1.0	D	0.80764	0.994	T	0.73347	-0.4011	10	0.87932	D	0	.	8.184	0.31328	0.0:0.0:1.0:0.0	.	176	Q8IZP6	R113B_HUMAN	T	176	ENSP00000267291:P176T	ENSP00000267291:P176T	P	-	1	0	RNF113B	97626966	1.000000	0.71417	0.997000	0.53966	0.451000	0.32288	4.546000	0.60705	0.936000	0.37367	0.484000	0.47621	CCC		0.617	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		T	98828965	G	T	98828965	3	4	340	1	0	0	0	0	1	0	0	0	13434	1232	43	4	450	4	RNF113B	13	98828965	Missense_Mutation	SNP	G	TCGA-BP-4347-01A-01D-1366-10	74417191	98828965	16340913	23	19667											
SCFD1	23256	hgsc.bcm.edu;ucsc.edu	37	14	31171516	31171516	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr14:31171516A>C	ENST00000458591.2	+	17	1652	c.1425A>C	c.(1423-1425)caA>caC	p.Q475H	SCFD1_ENST00000554486.1_3'UTR|SCFD1_ENST00000396629.2_Missense_Mutation_p.Q383H|SCFD1_ENST00000541123.1_Missense_Mutation_p.Q290H|SCFD1_ENST00000544052.2_Missense_Mutation_p.Q408H|SCFD1_ENST00000421551.3_Missense_Mutation_p.Q416H	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	475					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATTTGGAGCAATATAAAAAAG	0.269																																																0													65	70	69					14																	31171516		2203	4298	6501	SO:0001583	missense	23256			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1425A>C	14.37:g.31171516A>C	ENSP00000390783:p.Gln475His		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.651264	0.67472	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.06	-2.25	0.06888	.	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	M	0.75777	2.31	0.51482	D	0.999928	P;P;P;P	0.40230	0.708;0.703;0.708;0.703	P;P;P;P	0.55545	0.778;0.54;0.676;0.663	D	0.83641	0.0150	10	0.72032	D	0.01	-25.9706	13.8215	0.63322	0.2672:0.0:0.7328:0.0	.	416;408;383;475	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	H	475;408;416;290;383	ENSP00000390783:Q475H;ENSP00000443010:Q408H;ENSP00000388078:Q416H;ENSP00000443537:Q290H;ENSP00000379870:Q383H	ENSP00000309417:Q483H	Q	+	3	2	SCFD1	30241267	0.997000	0.39634	0.993000	0.49108	0.997000	0.91878	0.288000	0.18939	-0.352000	0.08237	0.533000	0.62120	CAA		0.269	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		C	31171516	A	C	31171516	3	2	340	1	0	0	0	0	1	0	0	0	13895	98	4	5	1491	5	SCFD1	14	31171516	Missense_Mutation	SNP	A	TCGA-BP-4347-01A-01D-1366-10		31171516	76178024	24	19668											
GNB5	10681	hgsc.bcm.edu;ucsc.edu	37	15	52433455	52433455	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr15:52433455T>G	ENST00000261837.7	-	7	574	c.509A>C	c.(508-510)aAg>aCg	p.K170T	CTD-2184D3.7_ENST00000560613.1_RNA|GNB5_ENST00000396335.4_Intron|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000358784.7_Missense_Mutation_p.K128T|GNB5_ENST00000559348.1_5'Flank	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	170					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CACAGAACACTTATTATCCAA	0.403																																																0													131	122	125					15																	52433455		2195	4293	6488	SO:0001583	missense	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.509A>C	15.37:g.52433455T>G	ENSP00000261837:p.Lys170Thr		B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642092	0.87859	.	.	ENSG00000069966	ENST00000261837;ENST00000396335	T	0.01178	5.22	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.000000	0.85682	D	0.000000	T	0.03959	0.0111	L	0.35644	1.08	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.63655	-0.6588	10	0.37606	T	0.19	-31.6173	15.6048	0.76658	0.0:0.0:0.0:1.0	.	170	O14775	GBB5_HUMAN	T	170;128	ENSP00000261837:K170T	ENSP00000261837:K170T	K	-	2	0	GNB5	50220747	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.757000	0.85209	2.265000	0.75225	0.533000	0.62120	AAG		0.403	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			G	52433455	T	G	52433455	3	3	340	1	0	0	0	0	1	0	0	0	6523	1609	56	5	706	5	GNB5	15	52433455	Missense_Mutation	SNP	T	TCGA-BP-4347-01A-01D-1366-10		52433455	50097937	25	19669											
UBN1	29855	hgsc.bcm.edu	37	16	4924285	4924285	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr16:4924285C>G	ENST00000396658.4	+	14	2577	c.1874C>G	c.(1873-1875)tCa>tGa	p.S625*	UBN1_ENST00000262376.6_Nonsense_Mutation_p.S625*|UBN1_ENST00000545171.1_Nonsense_Mutation_p.S625*|UBN1_ENST00000590769.1_Nonsense_Mutation_p.S625*	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	625					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCTTTGCCCTCAGATCACCAA	0.532																																																0													102	110	107					16																	4924285		2197	4300	6497	SO:0001587	stop_gained	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1874C>G	16.37:g.4924285C>G	ENSP00000379894:p.Ser625*		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Nonsense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	40	7.925252	0.98565	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	.	.	.	4.64	3.69	0.42338	.	0.115951	0.39210	N	0.001437	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-5.2157	11.547	0.50698	0.0:0.9166:0.0:0.0834	.	.	.	.	X	625	.	ENSP00000262376:S625X	S	+	2	0	UBN1	4864286	0.999000	0.42202	0.998000	0.56505	0.820000	0.46376	2.422000	0.44696	1.313000	0.45069	0.561000	0.74099	TCA		0.532	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		G	4924285	C	G	4924285	4	3	340	1	0	0	0	0	0	1	0	0	16897	838	29	4	1928	4	UBN1	16	4924285	Nonsense_Mutation	SNP	C	TCGA-BP-4347-01A-01D-1366-10		4924285	85430468	26	19670											
CNOT1	23019	hgsc.bcm.edu;ucsc.edu	37	16	58585658	58585658	+	Silent	SNP	A	A	T			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr16:58585658A>T	ENST00000317147.5	-	23	3368	c.3036T>A	c.(3034-3036)ccT>ccA	p.P1012P	CNOT1_ENST00000245138.4_5'Flank|CNOT1_ENST00000441024.2_Silent_p.P1012P|CNOT1_ENST00000569240.1_Silent_p.P1007P|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1012	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAATACTTCCAGGGGTTGTGA	0.478																																																0													152	150	150					16																	58585658		2198	4300	6498	SO:0001819	synonymous_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3036T>A	16.37:g.58585658A>T			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																				0.478	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		T	58585658	A	T	58585658	2	4	340	1	0	0	0	0	0	0	0	1	3619	175	7	5		5	CNOT1	16	58585658	Silent	SNP	A	TCGA-BP-4347-01A-01D-1366-10	53661373	58585658	31769095	27	19671											
GAN	8139	hgsc.bcm.edu;ucsc.edu	37	16	81411067	81411067	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr16:81411067T>G	ENST00000568107.2	+	11	1822	c.1660T>G	c.(1660-1662)Tgg>Ggg	p.W554G		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	554					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CACAGGAACCTGGCACCACAC	0.493																																					GBM(106;1239 1507 7582 9741 33976)											0													216	189	198					16																	81411067		2201	4300	6501	SO:0001583	missense	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1660T>G	16.37:g.81411067T>G	ENSP00000476795:p.Trp554Gly			Missense_Mutation	SNP	ENST00000568107.2	37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715812	0.68844	.	.	ENSG00000127688	ENST00000248272	T	0.75704	-0.96	5.52	4.39	0.52855	Galactose oxidase, beta-propeller (1);	0.164796	0.64402	D	0.000017	T	0.57946	0.2088	N	0.19112	0.55	0.80722	D	1	P	0.37781	0.608	B	0.32465	0.146	T	0.60964	-0.7158	10	0.87932	D	0	.	11.6647	0.51366	0.133:0.0:0.0:0.867	.	554	Q9H2C0	GAN_HUMAN	G	554	ENSP00000248272:W554G	ENSP00000248272:W554G	W	+	1	0	GAN	79968568	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.979000	0.88103	0.874000	0.35823	0.383000	0.25322	TGG		0.493	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			G	81411067	T	G	81411067	3	3	340	1	0	0	0	0	1	0	0	0	6234	1580	55	5	1702	5	GAN	16	81411067	Missense_Mutation	SNP	T	TCGA-BP-4347-01A-01D-1366-10	22825409	81411067	8943686	28	19672											
ZC3H18	124245	hgsc.bcm.edu;ucsc.edu	37	16	88644135	88644135	+	Splice_Site	SNP	G	G	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr16:88644135G>A	ENST00000301011.5	+	2	803		c.e2+1		ZC3H18_ENST00000452588.2_Splice_Site	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18							nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGAAATAGACGTGAGTATGAT	0.532																																					Ovarian(121;375 2276 20373 38669)											0													74	80	78					16																	88644135		2181	4289	6470	SO:0001630	splice_region_variant	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.603+1G>A	16.37:g.88644135G>A			Q96DG4|Q96MP7	Splice_Site	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422415	0.62622	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4978	0.95081	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZC3H18	87171636	1.000000	0.71417	0.959000	0.39883	0.533000	0.34776	9.185000	0.94900	2.608000	0.88229	0.462000	0.41574	.		0.532	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	Intron	A	88644135	G	A	88644135	5	1	340	1	0	0	0	0	0	0	1	0	17573	1159	40	1	606	1	ZC3H18	16	88644135	Splice_Site	SNP	G	TCGA-BP-4347-01A-01D-1366-10	7233068	88644135	1710618	29	19673											
POLI	11201	hgsc.bcm.edu;ucsc.edu	37	18	51804217	51804217	+	Missense_Mutation	SNP	A	A	G	rs3218785	byFrequency	TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr18:51804217A>G	ENST00000579534.1	+	4	694	c.551A>G	c.(550-552)aAt>aGt	p.N184S	POLI_ENST00000406285.3_Missense_Mutation_p.N184S|POLI_ENST00000217800.5_Missense_Mutation_p.N58S|POLI_ENST00000579434.1_Missense_Mutation_p.N81S	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	184	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CATGTATACAATAATCAGTGT	0.383								DNA polymerases (catalytic subunits)																																								0													102	95	97					18																	51804217		2203	4300	6503	SO:0001583	missense	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.551A>G	18.37:g.51804217A>G	ENSP00000462664:p.Asn184Ser		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	A	8.897	0.955506	0.18507	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.21543	2.0	5.66	4.51	0.55191	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.103312	0.64402	D	0.000007	T	0.08891	0.0220	N	0.02539	-0.55	0.40882	D	0.984008	B;B	0.31769	0.339;0.11	B;B	0.39419	0.299;0.016	T	0.25187	-1.0139	10	0.08381	T	0.77	-18.0841	7.9437	0.29974	0.8397:0.0:0.1603:0.0	.	183;184	B7Z780;Q9UNA4	.;POLI_HUMAN	S	184	ENSP00000385196:N184S	ENSP00000217800:N184S	N	+	2	0	POLI	50058215	1.000000	0.71417	0.085000	0.20634	0.677000	0.39632	2.457000	0.45005	0.999000	0.39023	0.482000	0.46254	AAT		0.383	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		G	51804217	A	G	51804217	3	3	340	1	0	0	0	0	1	0	0	0	12205	101	4	3	565	3	POLI	18	51804217	Missense_Mutation	SNP	A	TCGA-BP-4347-01A-01D-1366-10		51804217	26273031	30	19674											
MAST1	22983	hgsc.bcm.edu	37	19	12975920	12975920	+	Silent	SNP	G	G	T	rs201939350	byFrequency	TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr19:12975920G>T	ENST00000251472.4	+	14	1605	c.1566G>T	c.(1564-1566)ggG>ggT	p.G522G		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAAGATGGGGCTCATGAGCC	0.577																																																0													123	106	112					19																	12975920		2203	4300	6503	SO:0001819	synonymous_variant	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1566G>T	19.37:g.12975920G>T				Silent	SNP	ENST00000251472.4	37	CCDS32921.1																																																																																				0.577	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		T	12975920	G	T	12975920	2	4	340	1	0	0	0	0	0	0	0	1	9326	1190	42	4		4	MAST1	19	12975920	Silent	SNP	G	TCGA-BP-4347-01A-01D-1366-10		12975920	46153063	31	19675											
ZNF569	148266	hgsc.bcm.edu	37	19	37905300	37905300	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr19:37905300T>C	ENST00000316950.6	-	6	817	c.260A>G	c.(259-261)gAg>gGg	p.E87G	ZNF569_ENST00000392149.2_Missense_Mutation_p.E87G|ZNF569_ENST00000592490.1_Missense_Mutation_p.S13G|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	87			E -> G (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E87G(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTGATGCTCATCAACTCC	0.303																																																1	Substitution - Missense(1)	breast(1)											45	46	46					19																	37905300		2202	4298	6500	SO:0001583	missense	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.260A>G	19.37:g.37905300T>C	ENSP00000325018:p.Glu87Gly		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	8.266	0.812358	0.16537	.	.	ENSG00000196437	ENST00000316950	T	0.08102	3.13	3.74	3.74	0.42951	.	0.788279	0.10321	N	0.688728	T	0.05640	0.0148	N	0.21373	0.66	0.80722	D	1	P	0.37781	0.608	B	0.32465	0.146	T	0.45934	-0.9227	10	0.24483	T	0.36	.	8.9857	0.35992	0.0:0.0:0.0:1.0	.	87	Q5MCW4	ZN569_HUMAN	G	87	ENSP00000325018:E87G	ENSP00000325018:E87G	E	-	2	0	ZNF569	42597140	0.105000	0.21958	0.962000	0.40283	0.340000	0.28889	2.999000	0.49473	1.695000	0.51148	0.482000	0.46254	GAG		0.303	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		C	37905300	T	C	37905300	3	2	340	1	0	0	0	0	1	0	0	0	18005	1551	54	3	1804	3	ZNF569	19	37905300	Missense_Mutation	SNP	T	TCGA-BP-4347-01A-01D-1366-10	24929380	37905300	21223683	32	19676											
HNRNPUL1	11100	hgsc.bcm.edu;ucsc.edu	37	19	41808629	41808629	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr19:41808629C>A	ENST00000392006.3	+	12	1920	c.1747C>A	c.(1747-1749)Cag>Aag	p.Q583K	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.Q483K|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.Q583K|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.Q483K|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.Q469K|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.Q494K|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.Q483K	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	583	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CATTGAGCTGCAGCGGGAGGA	0.562																																																0													84	79	81					19																	41808629		2203	4300	6503	SO:0001583	missense	11100			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1747C>A	19.37:g.41808629C>A	ENSP00000375863:p.Gln583Lys		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947361	0.92593	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.46819	0.86;1.85;1.44;1.43	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.65975	2.015	0.48341	D	0.999638	P;P;P;D;P;P;P	0.71674	0.47;0.602;0.917;0.998;0.955;0.643;0.723	B;B;P;D;P;B;P	0.78314	0.396;0.396;0.771;0.991;0.636;0.396;0.6	T	0.65948	-0.6044	10	0.46703	T	0.11	-12.7685	17.9067	0.88920	0.0:1.0:0.0:0.0	.	494;483;583;107;469;583;483	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-5;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;.;HNRL1_HUMAN;.	K	483;583;469;494	ENSP00000340857:Q483K;ENSP00000375863:Q583K;ENSP00000367460:Q469K;ENSP00000263367:Q494K	ENSP00000263367:Q494K	Q	+	1	0	HNRNPUL1	46500469	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.283000	0.78640	2.837000	0.97791	0.591000	0.81541	CAG		0.562	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		A	41808629	C	A	41808629	3	1	340	1	0	0	0	0	1	0	0	0	7276	711	25	4	1793	4	HNRNPUL1	19	41808629	Missense_Mutation	SNP	C	TCGA-BP-4347-01A-01D-1366-10	3903329	41808629	17320354	33	19677											
C19orf76	199800	hgsc.bcm.edu	37	19	50193437	50193437	+	Missense_Mutation	SNP	C	C	A	rs45613034	byFrequency	TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr19:50193437C>A	ENST00000420022.3	+	2	1323	c.149C>A	c.(148-150)gCg>gAg	p.A50E	CPT1C_ENST00000598293.1_5'Flank|CPT1C_ENST00000354199.5_5'Flank|CTB-33G10.6_ENST00000596472.1_RNA|CPT1C_ENST00000392518.4_5'Flank|CPT1C_ENST00000405931.2_5'Flank|CPT1C_ENST00000323446.5_5'Flank	NM_001101340.1	NP_001094810.1	C9JUS6	ADM5_HUMAN	adrenomedullin 5 (putative)	50						extracellular region (GO:0005576)											CACCGCCTGGCGGAGATCATA	0.687													c|||	54	0.0107827	0.0008	0.0029	5008	,	,		14330	0.002		0.0149	False		,,,				2504	0.0348															0								C	GLU/ALA	8,3944		0,8,1968	10	13	12		149	1.1	0	19	dbSNP_127	12	85,8165		0,85,4040	yes	missense	C19orf76	NM_001101340.1	107	0,93,6008	AA,AC,CC		1.0303,0.2024,0.7622	benign	50/154	50193437	93,12109	1976	4125	6101	SO:0001583	missense	0			BC032764	CCDS46146.1	19q13.33	2012-12-07	2012-12-07	2012-10-29	ENSG00000224420	ENSG00000224420			27293	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 76", "adrenomedullin 5 homolog (pig)"	C19orf76		18434369	Standard	NM_001101340		Approved	AM5	uc002pph.2	C9JUS6		ENST00000420022.3:c.149C>A	19.37:g.50193437C>A	ENSP00000393631:p.Ala50Glu			Missense_Mutation	SNP	ENST00000420022.3	37	CCDS46146.1	18	0.008241758241758242	0	0.0	1	0.0027624309392265192	2	0.0034965034965034965	15	0.01978891820580475	C	11.62	1.692811	0.30052	0.002024	0.010303	ENSG00000224420	ENST00000420022	.	.	.	2.18	1.14	0.20703	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.09310	N	1	B	0.33940	0.433	B	0.29267	0.1	T	0.16453	-1.0402	8	0.33940	T	0.23	.	4.9604	0.14063	0.0:0.8219:0.0:0.1781	rs45613034	50	C9JUS6	ADM5_HUMAN	E	50	.	ENSP00000393631:A50E	A	+	2	0	C19orf76	54885249	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.146000	0.10250	0.503000	0.28060	-0.254000	0.11334	GCG		0.687	ADM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465777.1	NM_001101340		A	50193437	C	A	50193437	3	1	340	1	0	0	0	0	1	0	0	0	1952	768	27	4	155	4	C19orf76	19	50193437	Missense_Mutation	SNP	C	TCGA-BP-4347-01A-01D-1366-10	8384808	50193437	8935546	34	19678											
ZNF274	10782	hgsc.bcm.edu	37	19	58718359	58718360	+	Frame_Shift_Ins	INS	-	-	A	rs59557917|rs373818336		TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr19:58718359_58718360insA	ENST00000326804.4	+	5	988_989	c.529_530insA	c.(529-531)gagfs	p.E177fs	ZNF274_ENST00000345813.3_Frame_Shift_Ins_p.E145fs|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Frame_Shift_Ins_p.E72fs	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	177	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGGTCCCCGGGAGCCCTGGACC	0.624																																																0																																										SO:0001589	frameshift_variant	10782			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.530dupA	19.37:g.58718360_58718360dupA	ENSP00000321209:p.Glu177fs		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Frame_Shift_Ins	INS	ENST00000326804.4	37																																																																																					0.624	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		A	58718360	-	A	58718359	7	5	340	1	0	1	1	0	0	0	0	0	17814	1175	41	0	543	0	ZNF274	19	58718359	Frame_Shift_Ins	INS	-	TCGA-BP-4347-01A-01D-1366-10	8524922	58718359	410624	35	19679											
C22orf30	253143	hgsc.bcm.edu;ucsc.edu	37	22	32108910	32108910	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr22:32108910G>A	ENST00000327423.6	-	4	5104	c.4915C>T	c.(4915-4917)Cgg>Tgg	p.R1639W	PRR14L_ENST00000397493.2_Missense_Mutation_p.R1639W|PRR14L_ENST00000434485.1_Missense_Mutation_p.R1639W	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1639										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GAGGAACACCGTCGGTATCTT	0.468											OREG0003533	type=REGULATORY REGION|Gene=BC040859|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													44	35	38					22																	32108910		692	1591	2283	SO:0001583	missense	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.4915C>T	22.37:g.32108910G>A	ENSP00000331845:p.Arg1639Trp	829	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	CCDS13900.2	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493671	0.26774	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.07327	3.2;3.22;3.21	5.37	5.37	0.77165	.	0.600221	0.14187	N	0.335599	T	0.15912	0.0383	N	0.22421	0.69	0.18873	N	0.999981	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.62491	0.903;0.859;0.859	T	0.25572	-1.0128	9	.	.	.	0.072	16.2646	0.82568	0.0:0.0:1.0:0.0	.	1639;1639;1639	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	W	1639	ENSP00000380630:R1639W;ENSP00000331845:R1639W;ENSP00000388314:R1639W	.	R	-	1	2	PRR14L	30438910	0.739000	0.28196	0.026000	0.17262	0.505000	0.33919	3.277000	0.51654	2.511000	0.84671	0.650000	0.86243	CGG		0.468	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		A	32108910	G	A	32108910	3	1	340	1	0	0	0	0	1	0	0	0	2144	1144	40	1	1564	1	C22orf30	22	32108910	Missense_Mutation	SNP	G	TCGA-BP-4347-01A-01D-1366-10		32108910	19195656	36	19680											
CBX6	23466	hgsc.bcm.edu;ucsc.edu	37	22	39267730	39267730	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chr22:39267730A>T	ENST00000407418.3	-	3	269	c.146T>A	c.(145-147)cTg>cAg	p.L49Q	CBX6_ENST00000216083.6_Missense_Mutation_p.L49Q			O95503	CBX6_HUMAN	chromobox homolog 6	49	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CCGCGAGTCCAGGATGTTCTC	0.627																																																0													44	45	45					22																	39267730		2203	4300	6503	SO:0001583	missense	23466				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.146T>A	22.37:g.39267730A>T	ENSP00000384490:p.Leu49Gln		A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363477	0.82353	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	D;D	0.82433	-1.61;-1.61	4.07	4.07	0.47477	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	4.692850	0.00797	N	0.001390	D	0.91040	0.7181	L	0.56396	1.775	0.50313	D	0.999869	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.77281	-0.2646	10	0.87932	D	0	.	13.0331	0.58854	1.0:0.0:0.0:0.0	.	49;49	B3KT27;O95503	.;CBX6_HUMAN	Q	49	ENSP00000384490:L49Q;ENSP00000216083:L49Q	ENSP00000216083:L49Q	L	-	2	0	CBX6	37597676	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.682000	0.74528	1.464000	0.47987	0.379000	0.24179	CTG		0.627	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		T	39267730	A	T	39267730	3	4	340	1	0	0	0	0	1	0	0	0	2724	188	7	5	1104	5	CBX6	22	39267730	Missense_Mutation	SNP	A	TCGA-BP-4347-01A-01D-1366-10	7158820	39267730	12036836	37	19681											
IL1RAPL2	26280	hgsc.bcm.edu;ucsc.edu	37	X	103903657	103903657	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chrX:103903657G>A	ENST00000372582.1	+	2	819	c.63G>A	c.(61-63)atG>atA	p.M21I	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.M21I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	21	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCTGAAGATGGTGTCAAAGA	0.423																																																0													114	100	104					X																	103903657		2203	4299	6502	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.63G>A	X.37:g.103903657G>A	ENSP00000361663:p.Met21Ile		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	0.104	-1.147366	0.01714	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03181	4.02;4.02	4.96	4.96	0.65561	Immunoglobulin-like (1);	0.125321	0.36703	N	0.002449	T	0.02083	0.0065	N	0.08118	0	0.80722	D	1	B	0.14012	0.009	B	0.06405	0.002	T	0.55477	-0.8135	10	0.22706	T	0.39	.	8.1259	0.30999	0.0:0.1672:0.6568:0.176	.	21	Q9NP60	IRPL2_HUMAN	I	21	ENSP00000361663:M21I;ENSP00000344976:M21I	ENSP00000344976:M21I	M	+	3	0	IL1RAPL2	103790313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.781000	0.26774	2.215000	0.71742	0.464000	0.42555	ATG		0.423	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		A	103903657	G	A	103903657	3	1	340	1	0	0	0	0	1	0	0	0	7664	1348	47	2	65	2	IL1RAPL2	23	103903657	Missense_Mutation	SNP	G	TCGA-BP-4347-01A-01D-1366-10		103903657	51366903	38	19682											
L1CAM	3897	hgsc.bcm.edu	37	X	153131185	153131185	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4347-01A-01D-1366-10	TCGA-BP-4347-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	249697ef-19f1-4d5e-8182-1eb1b5c38ec1	e453d958-081b-4680-a2ec-1e14aa549c08	g.chrX:153131185C>A	ENST00000370060.1	-	20	2710	c.2521G>T	c.(2521-2523)Gtc>Ttc	p.V841F	L1CAM_ENST00000538883.1_Missense_Mutation_p.V843F|L1CAM_ENST00000370057.3_Missense_Mutation_p.V841F|L1CAM_ENST00000370055.1_Missense_Mutation_p.V836F|L1CAM_ENST00000361699.4_Missense_Mutation_p.V841F|L1CAM_ENST00000543994.1_Missense_Mutation_p.V843F|L1CAM_ENST00000361981.3_Missense_Mutation_p.V836F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	841	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCCTTGACCTGGGCCAGG	0.602																																																0													90	94	93					X																	153131185		2203	4300	6503	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2521G>T	X.37:g.153131185C>A	ENSP00000359077:p.Val841Phe		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499783	0.64298	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39	4.49	4.49	0.54785	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.157170	0.29660	N	0.011523	T	0.69024	0.3065	M	0.75150	2.29	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.976;1.0	D;P;D	0.87578	0.997;0.844;0.998	T	0.71991	-0.4425	10	0.72032	D	0.01	.	9.4193	0.38541	0.2123:0.7877:0.0:0.0	.	836;841;841	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	F	841;843;841;843;836;836;841	ENSP00000359077:V841F;ENSP00000438430:V843F;ENSP00000359074:V841F;ENSP00000439645:V843F;ENSP00000354712:V836F;ENSP00000359072:V836F;ENSP00000355380:V841F	ENSP00000355380:V841F	V	-	1	0	L1CAM	152784379	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	2.491000	0.45303	1.951000	0.56629	0.436000	0.28706	GTC		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		A	153131185	C	A	153131185	3	1	340	1	0	0	0	0	1	0	0	0	8590	507	18	4	1292	4	L1CAM	23	153131185	Missense_Mutation	SNP	C	TCGA-BP-4347-01A-01D-1366-10	49227528	153131185	2139375	39	19683											
VHL	7428	hgsc.bcm.edu	37	3	10183871	10183871	+	Splice_Site	SNP	G	G	C			TCGA-BP-4349-01A-01W-1362-10	TCGA-BP-4349-11A-01W-1362-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	f40c15b0-29c0-4b3d-9cd0-3d98e36bedec	9776512e-1277-4973-9831-bf6bb4124639	g.chr3:10183871G>C	ENST00000256474.2	+	1	1180	c.340G>C	c.(340-342)Ggt>Cgt	p.G114R	VHL_ENST00000345392.2_Splice_Site_p.V114L|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	114	Involved in binding to CCT complex.		G -> C (in VHLD; type II). {ECO:0000269|PubMed:8956040}.|G -> R (in VHLD; type I-II).|G -> S (in VHLD; type II). {ECO:0000269|PubMed:8825918}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G114C(5)|p.G114R(4)|p.G114S(2)|p.Y112fs*1(2)|p.G114fs*45(1)|p.?(1)|p.S111fs*45(1)|p.G114fs*17(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAGCTACCGAGGTACGGGCCC	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Substitution - Missense(11)|Deletion - Frameshift(5)|Unknown(1)	kidney(17)	GRCh37	CM044739|CM941372|CM951284	VHL	M							10	11	10					3																	10183871		1848	3825	5673	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.340+1G>C	3.37:g.10183871G>C			B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.307241|5.307241	0.95629|0.95629	.|.	.|.	ENSG00000134086|ENSG00000134086	ENST00000256474;ENST00000450183|ENST00000345392	D|D	0.99857|0.99803	-7.22|-6.82	5.08|5.08	5.08|5.08	0.68730|0.68730	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.99616|0.99616	0.9860|0.9860	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999994|0.999994	D|D	0.89917|0.61697	1.0|0.99	D|D	0.97110|0.72625	1.0|0.978	D|D	0.97682|0.97682	1.0173|1.0173	10|9	0.46703|0.62326	T|D	0.11|0.03	-8.0737|-8.0737	16.0436|16.0436	0.80701|0.80701	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	114|114	P40337|P40337-2	VHL_HUMAN|.	R|L	114;32|114	ENSP00000256474:G114R|ENSP00000344757:V114L	ENSP00000256474:G114R|ENSP00000344757:V114L	G|V	+|+	1|1	0|0	VHL|VHL	10158871|10158871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	4.377000|4.377000	0.59562|0.59562	2.377000|2.377000	0.81083|0.81083	0.479000|0.479000	0.44913|0.44913	GGT|GTG		0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Missense_Mutation	C	10183871	G	C	10183871	5	2	341	1	0	0	0	0	0	0	1	0	17167	1014	35	4	342	4	VHL	3	10183871	Splice_Site	SNP	G	TCGA-BP-4349-01A-01W-1362-10		10183871	187838559	1	19684											
ISG15	9636	hgsc.bcm.edu	37	1	949654	949654	+	Silent	SNP	A	A	G	rs8997	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:949654A>G	ENST00000379389.4	+	2	445	c.294A>G	c.(292-294)gtA>gtG	p.V98V	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	98	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTACGAGGTACGGCTGACGC	0.642													A|||	4135	0.825679	0.5083	0.9179	5008	,	,		17827	0.9266		0.9453	False		,,,				2504	0.9622															0								A		2526,1880	618.6+/-393.2	720,1086,397	63	60	61		294	1.2	0	1	dbSNP_52	61	8142,456	789.0+/-407.6	3858,426,15	no	coding-synonymous	ISG15	NM_005101.3		4578,1512,412	GG,GA,AA		5.3036,42.6691,17.9637		98/166	949654	10668,2336	2203	4299	6502	SO:0001819	synonymous_variant	9636			BC009507	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608			4053	protein-coding gene	gene with protein product		147571	"interferon, alpha-inducible protein (clone IFI-15K)"	G1P2		3087979	Standard	NM_005101		Approved	IFI15, UCRP	uc001acj.4	P05161	OTTHUMG00000040777	ENST00000379389.4:c.294A>G	1.37:g.949654A>G			Q5SVA4|Q7Z2G2|Q96GF0	Silent	SNP	ENST00000379389.4	37	CCDS6.1																																																																																				0.642	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097989.1	NM_005101		G	949654	A	G	949654	2	3	342	1	0	0	0	0	0	0	0	1	7855	378	14	3		3	ISG15	1	949654	Silent	SNP	A	TCGA-BP-4351-01A-01D-1366-10		949654	248300967	1	19685											
CLCN6	1185	hgsc.bcm.edu;ucsc.edu	37	1	11894064	11894064	+	Silent	SNP	T	T	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:11894064T>C	ENST00000346436.6	+	15	1555	c.1503T>C	c.(1501-1503)cgT>cgC	p.R501R	CLCN6_ENST00000376496.3_Silent_p.R501R|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.R479R	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	501					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTTGGACGTTTAGTTGCCA	0.483																																																0													148	130	136					1																	11894064		2203	4300	6503	SO:0001819	synonymous_variant	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1503T>C	1.37:g.11894064T>C			A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	CCDS138.1																																																																																				0.483	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		C	11894064	T	C	11894064	2	2	342	1	0	0	0	0	0	0	0	1	3469	1712	60	3		3	CLCN6	1	11894064	Silent	SNP	T	TCGA-BP-4351-01A-01D-1366-10	10944410	11894064	237356557	2	19686											
LRP8	7804	hgsc.bcm.edu	37	1	53792606	53792606	+	Silent	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:53792606G>T	ENST00000306052.6	-	2	284	c.183C>A	c.(181-183)ccC>ccA	p.P61P	LRP8_ENST00000347547.2_Silent_p.P61P|LRP8_ENST00000354412.3_Silent_p.P61P|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.P61P|RP4-784A16.5_ENST00000445039.2_lincRNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	61	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCCACACAGAGGGGATGCAGC	0.647																																																0													99	90	93					1																	53792606		2203	4300	6503	SO:0001819	synonymous_variant	7804			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.183C>A	1.37:g.53792606G>T			B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	CCDS578.1																																																																																				0.647	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		T	53792606	G	T	53792606	2	4	342	1	0	0	0	0	0	0	0	1	8965	987	35	4		4	LRP8	1	53792606	Silent	SNP	G	TCGA-BP-4351-01A-01D-1366-10	41898542	53792606	195458015	3	19687											
NEGR1	257194	hgsc.bcm.edu;ucsc.edu	37	1	71873192	71873192	+	Silent	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:71873192G>A	ENST00000357731.5	-	7	1241	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000590186.1_RNA|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000586006.1_RNA|NEGR1_ENST00000434200.1_Silent_p.Y288Y|NEGR1_ENST00000306821.3_Silent_p.Y206Y|ZRANB2-AS2_ENST00000585415.1_RNA|ZRANB2-AS2_ENST00000587306.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	334					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCAACACAAGGTACCAGCAGG	0.393																																																0													90	89	89					1																	71873192		2203	4299	6502	SO:0001819	synonymous_variant	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1002C>T	1.37:g.71873192G>A			Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	CCDS661.1																																																																																				0.393	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		A	71873192	G	A	71873192	2	1	342	1	0	0	0	0	0	0	0	1	10319	1256	44	2		2	NEGR1	1	71873192	Silent	SNP	G	TCGA-BP-4351-01A-01D-1366-10	18080586	71873192	177377429	4	19688											
LRRC8B	23507	hgsc.bcm.edu;ucsc.edu	37	1	90049857	90049857	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:90049857T>C	ENST00000330947.2	+	5	2008	c.1648T>C	c.(1648-1650)Tcc>Ccc	p.S550P	LRRC8B_ENST00000358200.4_Missense_Mutation_p.S550P|LRRC8B_ENST00000439853.1_Missense_Mutation_p.S550P|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	550					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GAGCAGCCTCTCCCGGATCCC	0.458																																																0													55	59	57					1																	90049857		2203	4300	6503	SO:0001583	missense	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1648T>C	1.37:g.90049857T>C	ENSP00000332674:p.Ser550Pro		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	CCDS724.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473272	0.26423	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.01015	5.44;5.44;5.44	5.53	5.53	0.82687	.	0.074619	0.56097	D	0.000022	T	0.00412	0.0013	L	0.28400	0.85	0.45227	D	0.998231	B	0.09022	0.002	B	0.06405	0.002	T	0.58896	-0.7555	9	.	.	.	.	10.3305	0.43820	0.0:0.0737:0.0:0.9263	.	550	Q6P9F7	LRC8B_HUMAN	P	550	ENSP00000332674:S550P;ENSP00000350933:S550P;ENSP00000400704:S550P	.	S	+	1	0	LRRC8B	89822445	0.998000	0.40836	0.998000	0.56505	0.924000	0.55760	3.177000	0.50871	2.220000	0.72140	0.533000	0.62120	TCC		0.458	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		C	90049857	T	C	90049857	3	2	342	1	0	0	0	0	1	0	0	0	9024	1551	54	3	1650	3	LRRC8B	1	90049857	Missense_Mutation	SNP	T	TCGA-BP-4351-01A-01D-1366-10	18176665	90049857	159200764	5	19689											
OR6K2	81448	hgsc.bcm.edu;ucsc.edu	37	1	158669955	158669955	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:158669955G>C	ENST00000359610.2	-	1	531	c.488C>G	c.(487-489)tCt>tGt	p.S163C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGCAGTGTAGAGATCCAGGC	0.488																																																0													119	105	110					1																	158669955		2203	4300	6503	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.488C>G	1.37:g.158669955G>C	ENSP00000352626:p.Ser163Cys		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127299	0.56721	.	.	ENSG00000196171	ENST00000359610	T	0.00169	8.63	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37809	N	0.001940	T	0.00300	0.0009	M	0.79926	2.475	0.19945	N	0.999949	D	0.89917	1.0	D	0.79108	0.992	T	0.56226	-0.8014	10	0.39692	T	0.17	-14.0467	15.5046	0.75728	0.0:0.0:1.0:0.0	.	163	Q8NGY2	OR6K2_HUMAN	C	163	ENSP00000352626:S163C	ENSP00000352626:S163C	S	-	2	0	OR6K2	156936579	0.002000	0.14202	0.999000	0.59377	0.857000	0.48899	1.082000	0.30803	2.494000	0.84150	0.650000	0.86243	TCT		0.488	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		C	158669955	G	C	158669955	3	2	342	1	0	0	0	0	1	0	0	0	11204	942	33	4	490	4	OR6K2	1	158669955	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	68620098	158669955	90580666	6	19690											
CRB1	23418	hgsc.bcm.edu;ucsc.edu	37	1	197390461	197390461	+	Silent	SNP	G	G	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr1:197390461G>C	ENST00000367400.3	+	6	1638	c.1503G>C	c.(1501-1503)gtG>gtC	p.V501V	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Silent_p.V501V|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.V200V|CRB1_ENST00000367399.2_Silent_p.V389V|CRB1_ENST00000535699.1_Silent_p.V432V|CRB1_ENST00000544212.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	501	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGGCTCAGTGACAACCAAGG	0.507																																																0													106	99	101					1																	197390461		2203	4300	6503	SO:0001819	synonymous_variant	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1503G>C	1.37:g.197390461G>C			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	CCDS1390.1																																																																																				0.507	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		C	197390461	G	C	197390461	2	2	342	1	0	0	0	0	0	0	0	1	3850	1277	45	4		4	CRB1	1	197390461	Silent	SNP	G	TCGA-BP-4351-01A-01D-1366-10	38720506	197390461	51860160	7	19691											
MYT1L	23040	hgsc.bcm.edu;ucsc.edu	37	2	1926319	1926319	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:1926319G>A	ENST00000399161.2	-	10	1969	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	MYT1L_ENST00000428368.2_Missense_Mutation_p.R408W	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	408					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCGTCGTCCCGCTCATGACAC	0.572																																																0													69	69	69					2																	1926319		2144	4246	6390	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1222C>T	2.37:g.1926319G>A	ENSP00000382114:p.Arg408Trp		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	14.70	2.612571	0.46631	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.47869	0.83;0.83	5.97	-0.454	0.12197	.	0.263887	0.43260	D	0.000589	T	0.45736	0.1357	L	0.27053	0.805	0.43632	D	0.996028	D;D	0.71674	0.997;0.998	P;P	0.57776	0.563;0.827	T	0.40117	-0.9580	10	0.72032	D	0.01	-21.4504	11.1983	0.48726	0.0:0.062:0.4907:0.4472	.	408;408	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	W	408;356;408	ENSP00000382114:R408W;ENSP00000396103:R408W	ENSP00000295067:R356W	R	-	1	2	MYT1L	1905326	1.000000	0.71417	0.024000	0.17045	0.272000	0.26649	0.752000	0.26362	-0.289000	0.09038	0.655000	0.94253	CGG		0.572	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		A	1926319	G	A	1926319	3	1	342	1	0	0	0	0	1	0	0	0	10109	1086	38	1	2396	1	MYT1L	2	1926319	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10		1926319	241273054	8	19692											
HNRPLL	92906	hgsc.bcm.edu	37	2	38800465	38800465	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:38800465T>C	ENST00000449105.3	-	8	1318	c.979A>G	c.(979-981)Atg>Gtg	p.M327V	HNRNPLL_ENST00000378915.3_Missense_Mutation_p.M293V|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.M327V|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.M293V|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.M322V			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	327					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CCTCCATGCATGTAAGAGGAA	0.413																																																0													111	107	109					2																	38800465		2203	4300	6503	SO:0001583	missense	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.979A>G	2.37:g.38800465T>C	ENSP00000390625:p.Met327Val		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37		.	.	.	.	.	.	.	.	.	.	T	10.58	1.388806	0.25118	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328	.	.	.	5.42	5.42	0.78866	.	0.114714	0.64402	D	0.000007	T	0.42743	0.1216	N	0.22421	0.69	0.80722	D	1	B;B;B	0.21381	0.055;0.055;0.027	B;B;B	0.18263	0.021;0.021;0.004	T	0.31916	-0.9926	9	0.12766	T	0.61	1.2017	15.7498	0.77976	0.0:0.0:0.0:1.0	.	322;327;327	C9J9G0;D6W592;Q8WVV9	.;.;HNRLL_HUMAN	V	327;322;293;293	.	ENSP00000368195:M293V	M	-	1	0	HNRPLL	38653969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.806000	0.27126	2.172000	0.68678	0.482000	0.46254	ATG		0.413	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		C	38800465	T	C	38800465	3	2	342	1	0	0	0	0	1	0	0	0	7279	1464	51	3	673	3	HNRPLL	2	38800465	Missense_Mutation	SNP	T	TCGA-BP-4351-01A-01D-1366-10	36874146	38800465	204398908	9	19693											
XPO1	7514	hgsc.bcm.edu;ucsc.edu	37	2	61706043	61706043	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:61706043C>G	ENST00000401558.2	-	25	3855	c.3128G>C	c.(3127-3129)cGg>cCg	p.R1043P	XPO1_ENST00000404992.2_Missense_Mutation_p.R1043P|XPO1_ENST00000406957.1_Missense_Mutation_p.R1043P|RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603652.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	1043					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ATCAGCCTGCCGTAGGGCTAT	0.378			Mis		CLL																																	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0													127	128	127					2																	61706043		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.3128G>C	2.37:g.61706043C>G	ENSP00000384863:p.Arg1043Pro		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120863	0.56613	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.80746	2.51	0.80722	D	1	P;P	0.38767	0.506;0.646	B;B	0.35413	0.124;0.202	T	0.67757	-0.5588	9	0.34782	T	0.22	-10.7929	19.8731	0.96858	0.0:1.0:0.0:0.0	.	690;1043	B3KWD0;O14980	.;XPO1_HUMAN	P	1043	.	ENSP00000384863:R1043P	R	-	2	0	XPO1	61559547	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	7.784000	0.85713	2.690000	0.91761	0.655000	0.94253	CGG		0.378	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		G	61706043	C	G	61706043	3	3	342	1	0	0	0	0	1	0	0	0	17450	652	23	4	91	4	XPO1	2	61706043	Missense_Mutation	SNP	C	TCGA-BP-4351-01A-01D-1366-10	22905578	61706043	181493330	10	19694											
GMCL1	64395	hgsc.bcm.edu;ucsc.edu	37	2	70096896	70096896	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:70096896G>T	ENST00000282570.3	+	12	1515	c.1264G>T	c.(1264-1266)Gta>Tta	p.V422L		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	422					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						CGACCTACTTGTAACTTACAC	0.388																																																0													163	144	150					2																	70096896		2203	4300	6503	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1264G>T	2.37:g.70096896G>T	ENSP00000282570:p.Val422Leu		Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532619	0.85812	.	.	ENSG00000087338	ENST00000282570	T	0.55052	0.54	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	L	0.35644	1.08	0.80722	D	1	D	0.56746	0.977	P	0.52343	0.696	T	0.45906	-0.9229	10	0.25751	T	0.34	-33.129	16.6259	0.84970	0.0:0.0:1.0:0.0	.	422	Q96IK5	GMCL1_HUMAN	L	422	ENSP00000282570:V422L	ENSP00000282570:V422L	V	+	1	0	GMCL1	69950400	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.554000	0.82212	2.585000	0.87301	0.655000	0.94253	GTA		0.388	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		T	70096896	G	T	70096896	3	4	342	1	0	0	0	0	1	0	0	0	6487	1377	48	4	1310	4	GMCL1	2	70096896	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	8390853	70096896	173102477	11	19695											
EDAR	10913	hgsc.bcm.edu;ucsc.edu	37	2	109513432	109513432	+	Silent	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:109513432G>T	ENST00000258443.2	-	12	1708	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	EDAR_ENST00000376651.1_Silent_p.S458S|EDAR_ENST00000409271.1_Silent_p.S458S	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	426	Death.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTGCACACAAGGACTCCACAG	0.587																																																0													85	65	72					2																	109513432		2203	4300	6503	SO:0001819	synonymous_variant	10913			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1278C>A	2.37:g.109513432G>T			B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	CCDS2081.1																																																																																				0.587	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			T	109513432	G	T	109513432	2	4	342	1	0	0	0	0	0	0	0	1	4907	987	35	4		4	EDAR	2	109513432	Silent	SNP	G	TCGA-BP-4351-01A-01D-1366-10	39416536	109513432	133685941	12	19696											
PASK	23178	hgsc.bcm.edu	37	2	242047620	242047620	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr2:242047620A>T	ENST00000405260.1	-	16	4327	c.3629T>A	c.(3628-3630)gTg>gAg	p.V1210E	PASK_ENST00000358649.4_Missense_Mutation_p.V1217E|PASK_ENST00000234040.4_Missense_Mutation_p.V1210E|PASK_ENST00000544142.1_Missense_Mutation_p.V1024E|PASK_ENST00000539818.1_Missense_Mutation_p.V994E|PASK_ENST00000475666.1_5'UTR	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> M (in dbSNP:rs10167000). {ECO:0000269|PubMed:17344846}.		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)		GGCAGCCTCCACGGTCTCCTC	0.562																																																0													120	111	114					2																	242047620		2203	4300	6503	SO:0001583	missense	23178			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.3629T>A	2.37:g.242047620A>T	ENSP00000384016:p.Val1210Glu		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.718440	0.68844	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.268080	0.31542	N	0.007469	T	0.68247	0.2980	L	0.41236	1.265	0.49582	D	0.999803	P;P;P;P	0.39576	0.679;0.629;0.629;0.679	P;B;B;P	0.47603	0.551;0.416;0.416;0.551	T	0.71961	-0.4434	10	0.87932	D	0	.	15.806	0.78513	1.0:0.0:0.0:0.0	.	1175;1024;1217;1210	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	E	1210;1024;1210;1217;994	ENSP00000234040:V1210E;ENSP00000441374:V1024E;ENSP00000384016:V1210E;ENSP00000351475:V1217E;ENSP00000443083:V994E	ENSP00000234040:V1210E	V	-	2	0	PASK	241696293	1.000000	0.71417	0.947000	0.38551	0.528000	0.34623	6.936000	0.75892	2.196000	0.70406	0.533000	0.62120	GTG		0.562	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		T	242047620	A	T	242047620	3	4	342	1	0	0	0	0	1	0	0	0	11474	159	6	5	354	5	PASK	2	242047620	Missense_Mutation	SNP	A	TCGA-BP-4351-01A-01D-1366-10	132534188	242047620	1151753	13	19697											
ZNF619	285267	hgsc.bcm.edu;ucsc.edu	37	3	40529519	40529519	+	Silent	SNP	C	C	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr3:40529519C>G	ENST00000314686.5	+	6	1875	c.1470C>G	c.(1468-1470)ccC>ccG	p.P490P	ZNF619_ENST00000432264.2_Silent_p.P506P|ZNF619_ENST00000521353.1_Silent_p.P546P|ZNF619_ENST00000429348.2_Silent_p.P506P|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000447116.2_Silent_p.P546P|ZNF619_ENST00000456778.1_Silent_p.P462P|ZNF619_ENST00000522736.1_Silent_p.P497P			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTCTGCCTCCCCAACATACCT	0.547																																																0													154	105	122					3																	40529519		2203	4300	6503	SO:0001819	synonymous_variant	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1470C>G	3.37:g.40529519C>G			B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	37																																																																																					0.547	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		G	40529519	C	G	40529519	2	3	342	1	0	0	0	0	0	0	0	1	18048	610	22	4		4	ZNF619	3	40529519	Silent	SNP	C	TCGA-BP-4351-01A-01D-1366-10		40529519	157492911	14	19698											
PDS5A	23244	hgsc.bcm.edu;ucsc.edu	37	4	39850476	39850476	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr4:39850476C>T	ENST00000303538.8	-	28	3873	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATTACCTTTTCAGGTTGTGTA	0.363																																																0													81	79	79					4																	39850476		1825	4089	5914	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3334G>A	4.37:g.39850476C>T	ENSP00000303427:p.Glu1112Lys			Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198626	0.79015	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.47	5.47	0.80525	.	0.047188	0.85682	D	0.000000	T	0.44350	0.1289	N	0.14661	0.345	0.80722	D	1	B	0.25719	0.132	B	0.28916	0.096	T	0.30707	-0.9969	8	.	.	.	-19.2423	19.3219	0.94245	0.0:1.0:0.0:0.0	.	1112	Q29RF7	PDS5A_HUMAN	K	1112	.	.	E	-	1	0	PDS5A	39526871	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.298000	0.78815	2.538000	0.85594	0.655000	0.94253	GAA		0.363	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		T	39850476	C	T	39850476	3	4	342	1	0	0	0	0	1	0	0	0	11693	835	29	2	703	2	PDS5A	4	39850476	Missense_Mutation	SNP	C	TCGA-BP-4351-01A-01D-1366-10		39850476	151303800	15	19699											
PCDHB3	56132	hgsc.bcm.edu;ucsc.edu	37	5	140481267	140481267	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr5:140481267C>A	ENST00000231130.2	+	1	1034	c.1034C>A	c.(1033-1035)cCg>cAg	p.P345Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	345	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAACCCACCGGAACTGACC	0.483																																																0													85	82	83					5																	140481267		2203	4300	6503	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1034C>A	5.37:g.140481267C>A	ENSP00000231130:p.Pro345Gln		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145825	0.77888	.	.	ENSG00000113205	ENST00000231130	D	0.81579	-1.51	4.93	4.93	0.64822	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.94938	0.8363	H	0.99642	4.675	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.97626	1.0139	9	0.87932	D	0	.	18.5316	0.90995	0.0:1.0:0.0:0.0	.	345	Q9Y5E6	PCDB3_HUMAN	Q	345	ENSP00000231130:P345Q	ENSP00000231130:P345Q	P	+	2	0	PCDHB3	140461451	1.000000	0.71417	0.988000	0.46212	0.818000	0.46254	7.756000	0.85195	2.438000	0.82558	0.655000	0.94253	CCG		0.483	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		A	140481267	C	A	140481267	3	1	342	1	0	0	0	0	1	0	0	0	11545	652	23	4	1036	4	PCDHB3	5	140481267	Missense_Mutation	SNP	C	TCGA-BP-4351-01A-01D-1366-10		140481267	40433993	16	19700											
RNF44	22838	hgsc.bcm.edu;ucsc.edu	37	5	175957205	175957206	+	Splice_Site	DEL	TG	TG	-			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr5:175957205_175957206delTG	ENST00000274811.4	-	7	1327_1328	c.803_804delCA	c.(802-804)cca>c	p.P268fs	RNF44_ENST00000537487.1_Splice_Site_p.P187fs|RNF44_ENST00000509404.1_5'Flank	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	268	Pro-rich.						zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGAGAATATGGCTGCAAGAG	0.703																																																0																																										SO:0001630	splice_region_variant	22838			AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"RING-type (C3HC4) zinc fingers"	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.802-1CA>-	5.37:g.175957205_175957206delTG			B4DYE0|Q8ND05|Q9UPQ2	Frame_Shift_Del	DEL	ENST00000274811.4	37	CCDS4404.1																																																																																				0.703	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2		Frame_Shift_Del	-	175957206	TG	-	175957205	8	5	342	1	0	1	0	1	0	0	1	0	13502	1451	51	0	514	0	RNF44	5	175957205	Splice_Site	DEL	TG	TCGA-BP-4351-01A-01D-1366-10	35475938	175957205	4958055	17	19701											
GRM4	2914	hgsc.bcm.edu	37	6	34059775	34059775	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr6:34059775C>A	ENST00000538487.2	-	3	1064	c.621G>T	c.(619-621)caG>caT	p.Q207H	GRM4_ENST00000455714.2_Missense_Mutation_p.Q67H|GRM4_ENST00000609222.1_Missense_Mutation_p.Q74H|GRM4_ENST00000374177.3_Missense_Mutation_p.Q138H|GRM4_ENST00000535756.1_Missense_Mutation_p.Q74H|GRM4_ENST00000544773.2_Missense_Mutation_p.Q38H|GRM4_ENST00000374181.4_Missense_Mutation_p.Q207H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	207					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCACCATGGCCTGGGCCTGGT	0.617																																																0													122	88	99					6																	34059775		2203	4300	6503	SO:0001583	missense	2914			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.621G>T	6.37:g.34059775C>A	ENSP00000440556:p.Gln207His		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546149	0.65198	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	3.83	2.95	0.34219	Extracellular ligand-binding receptor (1);	0.000000	0.64402	U	0.000002	D	0.85660	0.5748	M	0.73430	2.235	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;0.999;0.999;0.996;0.996;1.0	D;D;D;D;D;D	0.83275	0.976;0.992;0.996;0.995;0.995;0.995	D	0.84829	0.0801	10	0.44086	T	0.13	.	9.8505	0.41055	0.0:0.8223:0.0:0.1777	.	207;38;67;207;207;74	B7ZLU9;B7Z1T9;F5GXM5;A1L4F9;Q14833;B3KVL9	.;.;.;.;GRM4_HUMAN;.	H	207;138;74;38;207;67	ENSP00000363296:Q207H;ENSP00000363292:Q138H;ENSP00000437925:Q74H;ENSP00000437730:Q38H;ENSP00000440556:Q207H;ENSP00000398456:Q67H	ENSP00000363292:Q138H	Q	-	3	2	GRM4	34167753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.082000	0.41605	0.811000	0.34303	-0.258000	0.10820	CAG		0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			A	34059775	C	A	34059775	3	1	342	1	0	0	0	0	1	0	0	0	6801	680	24	4	2153	4	GRM4	6	34059775	Missense_Mutation	SNP	C	TCGA-BP-4351-01A-01D-1366-10		34059775	137055292	18	19702											
SENP6	26054	hgsc.bcm.edu;ucsc.edu	37	6	76388338	76388338	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr6:76388338G>C	ENST00000447266.2	+	15	2366	c.1888G>C	c.(1888-1890)Gaa>Caa	p.E630Q	SENP6_ENST00000370010.2_Missense_Mutation_p.E623Q|SENP6_ENST00000541192.1_Missense_Mutation_p.E226Q|SENP6_ENST00000327284.8_Missense_Mutation_p.E623Q|SENP6_ENST00000370014.3_Missense_Mutation_p.E630Q	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	630					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAGCAAACAAGAATTTCAGTT	0.308																																																0													107	101	103					6																	76388338		1797	4062	5859	SO:0001583	missense	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1888G>C	6.37:g.76388338G>C	ENSP00000402527:p.Glu630Gln		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	6.894	0.534445	0.13188	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.31510	2.72;2.72;1.49;2.72;1.49;1.49	5.83	3.99	0.46301	.	0.414193	0.29225	N	0.012773	T	0.04497	0.0123	N	0.02315	-0.6	0.28282	N	0.923924	B;B;B	0.13594	0.003;0.002;0.008	B;B;B	0.17433	0.005;0.002;0.018	T	0.35773	-0.9775	10	0.13853	T	0.58	-13.4978	14.7149	0.69259	0.0:0.5644:0.4356:0.0	.	623;630;623	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	Q	623;630;623;630;520;226	ENSP00000359027:E623Q;ENSP00000359031:E630Q;ENSP00000321820:E623Q;ENSP00000402527:E630Q;ENSP00000391426:E520Q;ENSP00000441715:E226Q	ENSP00000321820:E623Q	E	+	1	0	SENP6	76445058	1.000000	0.71417	0.985000	0.45067	0.914000	0.54420	3.431000	0.52814	1.443000	0.47586	0.655000	0.94253	GAA		0.308	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		C	76388338	G	C	76388338	3	2	342	1	0	0	0	0	1	0	0	0	14056	943	33	4	1946	4	SENP6	6	76388338	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	42328563	76388338	94726729	19	19703											
C6orf167	253714	hgsc.bcm.edu	37	6	97629924	97629924	+	Missense_Mutation	SNP	G	G	C	rs189009132	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr6:97629924G>C	ENST00000275053.4	-	16	2505	c.2240C>G	c.(2239-2241)aCt>aGt	p.T747S	MMS22L_ENST00000369251.2_Missense_Mutation_p.T707S	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	747					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCTAGCAAAGTAAAGTCTAG	0.373													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16902	0.0		0.0	False		,,,				2504	0.0															0													131	132	131					6																	97629924		2203	4300	6503	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2240C>G	6.37:g.97629924G>C	ENSP00000275053:p.Thr747Ser		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	21.5	4.164446	0.78339	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.38560	1.47;1.13	5.04	5.04	0.67666	.	0.064390	0.64402	D	0.000009	T	0.43255	0.1239	L	0.50333	1.59	0.44098	D	0.996863	D;D	0.57571	0.98;0.98	P;P	0.52514	0.701;0.701	T	0.41034	-0.9531	10	0.59425	D	0.04	-0.1984	18.7344	0.91749	0.0:0.0:1.0:0.0	.	707;747	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	S	747;707	ENSP00000275053:T747S;ENSP00000358254:T707S	ENSP00000275053:T747S	T	-	2	0	MMS22L	97736645	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.438000	0.80431	2.510000	0.84645	0.467000	0.42956	ACT		0.373	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		C	97629924	G	C	97629924	3	2	342	1	0	0	0	0	1	0	0	0	2344	1029	36	4	1531	4	C6orf167	6	97629924	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	21241586	97629924	73485143	20	19704											
OGDH	4967	hgsc.bcm.edu	37	7	44747514	44747514	+	Silent	SNP	C	C	T	rs61756583	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr7:44747514C>T	ENST00000222673.5	+	23	3030	c.2988C>T	c.(2986-2988)acC>acT	p.T996T	OGDH_ENST00000444676.1_Silent_p.T1011T|OGDH_ENST00000449767.1_Silent_p.T992T|OGDH_ENST00000439616.2_Silent_p.T846T|OGDH_ENST00000543843.1_Silent_p.T947T|OGDH_ENST00000447398.1_Silent_p.T1007T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	996					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTCCAGCCACCGGCAACAAGA	0.642													C|||	234	0.0467252	0.0038	0.0504	5008	,	,		17701	0.0823		0.0417	False		,,,				2504	0.0706															0								C	,	51,4355	49.6+/-84.7	1,49,2153	58	54	55		2976,2988	-7	0.9	7	dbSNP_129	55	471,8129	137.3+/-194.3	10,451,3839	no	coding-synonymous,coding-synonymous	OGDH	NM_001165036.1,NM_002541.3	,	11,500,5992	TT,TC,CC		5.4767,1.1575,4.0135	,	992/1020,996/1024	44747514	522,12484	2203	4300	6503	SO:0001819	synonymous_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2988C>T	7.37:g.44747514C>T			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																				0.642	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			T	44747514	C	T	44747514	2	4	342	1	0	0	0	0	0	0	0	1	10841	639	23	1		1	OGDH	7	44747514	Silent	SNP	C	TCGA-BP-4351-01A-01D-1366-10		44747514	114391149	21	19705											
AGK	55750	hgsc.bcm.edu;ucsc.edu	37	7	141255279	141255279	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr7:141255279T>C	ENST00000355413.4	+	2	273	c.13T>C	c.(13-15)Ttt>Ctt	p.F5L	AGK_ENST00000535825.1_Missense_Mutation_p.F5L|AGK_ENST00000495028.1_3'UTR|AGK_ENST00000473247.1_5'UTR|AGK_ENST00000492693.1_Missense_Mutation_p.F5L	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	5					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GACGGTGTTCTTTAAAACGCT	0.423																																																0													76	75	76					7																	141255279		2203	4300	6503	SO:0001583	missense	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.13T>C	7.37:g.141255279T>C	ENSP00000347581:p.Phe5Leu		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225712	0.58668	.	.	ENSG00000006530	ENST00000355413;ENST00000424238;ENST00000535825;ENST00000492693	T;T;T	0.69806	1.31;1.06;-0.43	5.3	3.03	0.35002	.	0.047594	0.85682	D	0.000000	T	0.60612	0.2282	M	0.69823	2.125	0.40818	D	0.983481	B	0.06786	0.001	B	0.09377	0.004	T	0.56571	-0.7957	10	0.32370	T	0.25	.	7.9702	0.30124	0.0:0.0862:0.1689:0.7448	.	5	Q53H12	AGK_HUMAN	L	5	ENSP00000347581:F5L;ENSP00000444349:F5L;ENSP00000418789:F5L	ENSP00000347581:F5L	F	+	1	0	AGK	140901748	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.372000	0.34261	0.865000	0.35603	0.528000	0.53228	TTT		0.423	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		C	141255279	T	C	141255279	3	2	342	1	0	0	0	0	1	0	0	0	383	1609	56	3	15	3	AGK	7	141255279	Missense_Mutation	SNP	T	TCGA-BP-4351-01A-01D-1366-10	96507765	141255279	17883384	22	19706	158	2									
AGK	55750	hgsc.bcm.edu;ucsc.edu	37	7	141255283	141255283	+	Missense_Mutation	SNP	A	A	T	rs148294392	byFrequency	TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr7:141255283A>T	ENST00000355413.4	+	2	277	c.17A>T	c.(16-18)aAa>aTa	p.K6I	AGK_ENST00000535825.1_Missense_Mutation_p.K6I|AGK_ENST00000495028.1_3'UTR|AGK_ENST00000473247.1_5'UTR|AGK_ENST00000492693.1_Missense_Mutation_p.K6I	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	6					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GTGTTCTTTAAAACGCTTCGA	0.428																																																0													78	77	77					7																	141255283		2203	4300	6503	SO:0001583	missense	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.17A>T	7.37:g.141255283A>T	ENSP00000347581:p.Lys6Ile		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795615	0.50208	.	.	ENSG00000006530	ENST00000355413;ENST00000424238;ENST00000535825;ENST00000492693	T;T;T	0.71341	0.84;0.63;-0.56	5.3	2.92	0.33932	.	0.309905	0.34828	N	0.003644	T	0.66025	0.2748	L	0.61218	1.895	0.43647	D	0.996051	P	0.48834	0.916	P	0.44732	0.459	T	0.64054	-0.6497	10	0.45353	T	0.12	.	6.9542	0.24562	0.7681:0.152:0.0799:0.0	.	6	Q53H12	AGK_HUMAN	I	6	ENSP00000347581:K6I;ENSP00000444349:K6I;ENSP00000418789:K6I	ENSP00000347581:K6I	K	+	2	0	AGK	140901752	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.116000	0.41930	0.828000	0.34709	0.528000	0.53228	AAA		0.428	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		T	141255283	A	T	141255283	3	4	342	1	0	0	0	0	1	0	0	0	383	14	1	5	19	5	AGK	7	141255283	Missense_Mutation	SNP	A	TCGA-BP-4351-01A-01D-1366-10	4	141255283	17883380	23	19707	158	2									
CSMD1	64478	hgsc.bcm.edu;ucsc.edu	37	8	3046472	3046472	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr8:3046472C>A	ENST00000520002.1	-	36	6018	c.5463G>T	c.(5461-5463)gaG>gaT	p.E1821D	CSMD1_ENST00000602557.1_Missense_Mutation_p.E1821D|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1820D|CSMD1_ENST00000602723.1_Missense_Mutation_p.E1821D|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1821D|CSMD1_ENST00000539096.1_Missense_Mutation_p.E1820D|CSMD1_ENST00000542608.1_Missense_Mutation_p.E1820D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1821	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCCGTATGGCTCAGGGTAGC	0.468																																																0													71	67	68					8																	3046472		1893	4113	6006	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5463G>T	8.37:g.3046472C>A	ENSP00000430733:p.Glu1821Asp		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.058149|3.058149	0.55325|0.55325	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.18338	.|2.22;2.22;2.22;2.22;2.22	5.53|5.53	-2.16|-2.16	0.07080|0.07080	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.19525|0.19525	0.0469|0.0469	N|N	0.13168|0.13168	0.305|0.305	0.48341|0.48341	D|D	0.999635|0.999635	.|D;B;B	.|0.69078	.|0.997;0.048;0.077	.|D;B;B	.|0.80764	.|0.994;0.317;0.109	T|T	0.00605|0.00605	-1.1648|-1.1648	5|10	.|0.44086	.|T	.|0.13	.|.	11.9229|11.9229	0.52801|0.52801	0.0:0.4496:0.0:0.5504|0.0:0.4496:0.0:0.5504	.|.	.|1821;1821;1821	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	S|D	1301|1821;1821;1683;1820;1820;1820	.|ENSP00000383047:E1821D;ENSP00000430733:E1821D;ENSP00000441462:E1820D;ENSP00000446243:E1820D;ENSP00000441675:E1820D	.|ENSP00000320445:E1683D	A|E	-|-	1|3	0|2	CSMD1|CSMD1	3033879|3033879	0.998000|0.998000	0.40836|0.40836	0.625000|0.625000	0.29200|0.29200	0.773000|0.773000	0.43773|0.43773	0.496000|0.496000	0.22499|0.22499	-0.278000|-0.278000	0.09180|0.09180	0.637000|0.637000	0.83480|0.83480	GCC|GAG		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3046472	C	A	3046472	3	1	342	1	0	0	0	0	1	0	0	0	3946	796	28	4	5378	4	CSMD1	8	3046472	Missense_Mutation	SNP	C	TCGA-BP-4351-01A-01D-1366-10		3046472	143317550	24	19708											
PCMTD1	115294	hgsc.bcm.edu;ucsc.edu	37	8	52773607	52773607	+	Silent	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr8:52773607C>A	ENST00000360540.5	-	3	511	c.105G>T	c.(103-105)gcG>gcT	p.A35A	PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000521344.1_Silent_p.A35A|PCMTD1_ENST00000522514.1_Silent_p.A35A	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	35						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CACGATCAATCGCTCTGAAGG	0.418																																																0													90	82	85					8																	52773607		2203	4300	6503	SO:0001819	synonymous_variant	115294				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.105G>T	8.37:g.52773607C>A			Q96FK9	Silent	SNP	ENST00000360540.5	37	CCDS6148.1																																																																																				0.418	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		A	52773607	C	A	52773607	2	1	342	1	0	0	0	0	0	0	0	1	11588	871	31	4		4	PCMTD1	8	52773607	Silent	SNP	C	TCGA-BP-4351-01A-01D-1366-10	49727135	52773607	93590415	25	19709											
C9orf116	138162	hgsc.bcm.edu;ucsc.edu	37	9	138387377	138387377	+	Silent	SNP	G	G	A	rs140869229		TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr9:138387377G>A	ENST00000429260.2	-	3	327	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	C9orf116_ENST00000371791.1_Silent_p.T87T|C9orf116_ENST00000371789.3_Silent_p.T87T	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	103															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		CTTTTCTCCAGGTAAACATTG	0.448																																																0													183	150	161					9																	138387377		2203	4300	6503	SO:0001819	synonymous_variant	138162			BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"p53-induced expression 1 in Rb&#8722;/&#8722; cells"	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.307C>T	9.37:g.138387377G>A			Q5T897|Q8WU44	Silent	SNP	ENST00000429260.2	37	CCDS43899.1	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.099431	0.01843	.	.	ENSG00000160345	ENST00000419770	.	.	.	5.03	-2.76	0.05896	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.19775	N	0.99996	.	.	.	.	.	.	T	0.27054	-1.0085	4	.	.	.	-5.3576	2.4481	0.04511	0.2297:0.0773:0.3811:0.3118	.	.	.	.	L	65	.	.	P	-	2	0	C9orf116	137527198	0.117000	0.22190	0.182000	0.23118	0.020000	0.10135	-0.197000	0.09518	-0.347000	0.08299	-0.276000	0.10085	CCT		0.448	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2	NM_144654		A	138387377	G	A	138387377	2	1	342	1	0	0	0	0	0	0	0	1	2452	991	35	2		2	C9orf116	9	138387377	Silent	SNP	G	TCGA-BP-4351-01A-01D-1366-10		138387377	2826054	26	19710											
PTEN	5728	hgsc.bcm.edu	37	10	89692891	89692891	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr10:89692891A>C	ENST00000371953.3	+	5	1732	c.375A>C	c.(373-375)aaA>aaC	p.K125N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	125	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.K125N(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCACTGTAAAGCTGGAAAGG	0.403		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	53	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(2)|Deletion - In frame(1)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	GRCh37	CI004327	PTEN	I							141	130	134					10																	89692891		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.375A>C	10.37:g.89692891A>C	ENSP00000361021:p.Lys125Asn		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385476	0.82792	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98283	1.0509	9	.	.	.	-13.1019	15.1019	0.72284	1.0:0.0:0.0:0.0	.	125	P60484	PTEN_HUMAN	N	125	ENSP00000361021:K125N	.	K	+	3	2	PTEN	89682871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.925000	0.75829	1.953000	0.56701	0.533000	0.62120	AAA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89692891	A	C	89692891	3	2	342	1	0	0	0	0	1	0	0	0	12743	69	3	5	393	5	PTEN	10	89692891	Missense_Mutation	SNP	A	TCGA-BP-4351-01A-01D-1366-10		89692891	45841856	27	19711											
COX15	1355	hgsc.bcm.edu;ucsc.edu	37	10	101478155	101478155	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr10:101478155A>C	ENST00000016171.5	-	7	985	c.935T>G	c.(934-936)cTg>cGg	p.L312R	COX15_ENST00000370483.5_Missense_Mutation_p.L312R|CUTC_ENST00000493385.1_Intron|COX15_ENST00000497381.1_5'Flank			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	312					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AACATTCCTCAGGATGGGGGA	0.498																																																0													90	91	91					10																	101478155		2203	4300	6503	SO:0001583	missense	1355			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.935T>G	10.37:g.101478155A>C	ENSP00000016171:p.Leu312Arg		A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896661	0.72639	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.83506	-1.73;-1.73	5.23	5.23	0.72850	.	0.130345	0.52532	D	0.000064	D	0.85860	0.5795	M	0.73962	2.25	0.51767	D	0.999938	P;P	0.40000	0.698;0.619	P;P	0.45343	0.465;0.477	D	0.86604	0.1868	10	0.49607	T	0.09	-4.2554	15.1416	0.72615	1.0:0.0:0.0:0.0	.	312;312	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	R	312	ENSP00000359514:L312R;ENSP00000016171:L312R	ENSP00000016171:L312R	L	-	2	0	COX15	101468145	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	8.962000	0.93254	1.978000	0.57642	0.456000	0.33151	CTG		0.498	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		C	101478155	A	C	101478155	3	2	342	1	0	0	0	0	1	0	0	0	3766	188	7	5	379	5	COX15	10	101478155	Missense_Mutation	SNP	A	TCGA-BP-4351-01A-01D-1366-10	11785264	101478155	34056592	28	19712											
PLEKHA1	59338	hgsc.bcm.edu;ucsc.edu	37	10	124189325	124189325	+	Silent	SNP	T	T	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr10:124189325T>A	ENST00000368990.3	+	12	1217	c.1086T>A	c.(1084-1086)tcT>tcA	p.S362S	PLEKHA1_ENST00000368988.1_Missense_Mutation_p.L376H|PLEKHA1_ENST00000433307.1_Silent_p.S362S|PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L376H	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	362					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGACTGTCTCTCCAAGAGAAC	0.468																																																0													96	90	92					10																	124189325		2203	4300	6503	SO:0001819	synonymous_variant	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.1086T>A	10.37:g.124189325T>A			B3KQ55|D3DRE2|Q9BVK0	Silent	SNP	ENST00000368990.3	37	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219694	0.79464	.	.	ENSG00000107679	ENST00000368989;ENST00000368988	T;T	0.11821	2.74;2.74	5.71	5.71	0.89125	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01879	-1.1255	6	0.56958	D	0.05	-4.4286	16.2826	0.82703	0.0:0.0:0.0:1.0	.	.	.	.	H	376	ENSP00000357985:L376H;ENSP00000357984:L376H	ENSP00000357984:L376H	L	+	2	0	PLEKHA1	124179315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.493000	0.73658	2.307000	0.77673	0.528000	0.53228	CTC		0.468	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		A	124189325	T	A	124189325	2	1	342	1	0	0	0	0	0	0	0	1	12057	1538	54	5		5	PLEKHA1	10	124189325	Silent	SNP	T	TCGA-BP-4351-01A-01D-1366-10	22711170	124189325	11345422	29	19713											
PTPRJ	5795	hgsc.bcm.edu;ucsc.edu	37	11	48171013	48171013	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:48171013A>C	ENST00000418331.2	+	16	3366	c.3014A>C	c.(3013-3015)aAt>aCt	p.N1005T		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1005					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GATGCAAAGAATAATGAAGTG	0.328																																																0													119	132	128					11																	48171013		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3014A>C	11.37:g.48171013A>C	ENSP00000400010:p.Asn1005Thr		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.955608	0.34471	.	.	ENSG00000149177	ENST00000418331	T	0.13657	2.57	5.81	5.81	0.92471	.	.	.	.	.	T	0.32285	0.0824	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01464	-1.1348	9	0.40728	T	0.16	.	12.5586	0.56267	1.0:0.0:0.0:0.0	.	1005	Q12913	PTPRJ_HUMAN	T	1005	ENSP00000400010:N1005T	ENSP00000400010:N1005T	N	+	2	0	PTPRJ	48127589	1.000000	0.71417	0.992000	0.48379	0.444000	0.32077	3.961000	0.56759	2.210000	0.71456	0.533000	0.62120	AAT		0.328	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			C	48171013	A	C	48171013	3	2	342	1	0	0	0	0	1	0	0	0	12810	101	4	5	3085	5	PTPRJ	11	48171013	Missense_Mutation	SNP	A	TCGA-BP-4351-01A-01D-1366-10		48171013	86835503	30	19714											
DAGLA	747	hgsc.bcm.edu	37	11	61505673	61505673	+	Silent	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:61505673G>A	ENST00000257215.5	+	16	1766	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	550					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAAGCACCAAGCCCAAAGTGA	0.637																																																0													49	48	48					11																	61505673		2202	4299	6501	SO:0001819	synonymous_variant	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1650G>A	11.37:g.61505673G>A			A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	CCDS31578.1																																																																																				0.637	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		A	61505673	G	A	61505673	2	1	342	1	0	0	0	0	0	0	0	1	4228	962	34	2		2	DAGLA	11	61505673	Silent	SNP	G	TCGA-BP-4351-01A-01D-1366-10	13334660	61505673	73500843	31	19715											
ARAP1	116985	hgsc.bcm.edu	37	11	72418405	72418405	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:72418405G>T	ENST00000393609.3	-	12	1740	c.1538C>A	c.(1537-1539)tCa>tAa	p.S513*	ARAP1_ENST00000359373.5_Nonsense_Mutation_p.S513*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.S273*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.S268*|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.S513*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.S268*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.S268*	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	513	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTCTAGCTCTGAGTCAGCAGA	0.617																																					Ovarian(102;1198 1520 13195 17913 37529)											0													38	35	36					11																	72418405		2200	4293	6493	SO:0001587	stop_gained	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1538C>A	11.37:g.72418405G>T	ENSP00000377233:p.Ser513*		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Nonsense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	44	10.688969	0.99450	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	.	.	.	4.49	4.49	0.54785	.	0.175858	0.39407	N	0.001362	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8852	0.52598	0.0:0.1765:0.8235:0.0	.	.	.	.	X	513;513;273;268;513;268;268;302	.	ENSP00000335506:S268X	S	-	2	0	ARAP1	72096053	0.997000	0.39634	0.819000	0.32651	0.944000	0.59088	6.059000	0.71133	2.338000	0.79540	0.655000	0.94253	TCA		0.617	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		T	72418405	G	T	72418405	4	4	342	1	0	0	0	0	0	1	0	0	838	1294	45	4	2910	4	ARAP1	11	72418405	Nonsense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	10912732	72418405	62588111	32	19716											
WNT11	7481	hgsc.bcm.edu	37	11	75898207	75898207	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:75898207C>A	ENST00000322563.3	-	5	1091	c.967G>T	c.(967-969)Gac>Tac	p.D323Y		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	323					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						ACCACGCGGTCTGTGTAGGGG	0.602																																																0													172	130	144					11																	75898207		2200	4292	6492	SO:0001583	missense	7481			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"Wingless-type MMTV integration sites"	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.967G>T	11.37:g.75898207C>A	ENSP00000325526:p.Asp323Tyr		B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469449	0.84533	.	.	ENSG00000085741	ENST00000322563	T	0.75589	-0.95	4.63	4.63	0.57726	.	0.049234	0.85682	D	0.000000	T	0.66577	0.2803	N	0.02802	-0.49	0.80722	D	1	D	0.56287	0.975	P	0.58077	0.832	T	0.72808	-0.4181	10	0.34782	T	0.22	.	17.3486	0.87316	0.0:1.0:0.0:0.0	.	323	O96014	WNT11_HUMAN	Y	323	ENSP00000325526:D323Y	ENSP00000325526:D323Y	D	-	1	0	WNT11	75575855	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	5.938000	0.70170	2.515000	0.84797	0.305000	0.20034	GAC		0.602	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		A	75898207	C	A	75898207	3	1	342	1	0	0	0	0	1	0	0	0	17389	913	32	4	101	4	WNT11	11	75898207	Missense_Mutation	SNP	C	TCGA-BP-4351-01A-01D-1366-10	3479802	75898207	59108309	33	19717											
GRIA4	2893	hgsc.bcm.edu;ucsc.edu	37	11	105795320	105795320	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:105795320G>A	ENST00000530497.1	+	11	1672	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	GRIA4_ENST00000282499.5_Missense_Mutation_p.V558I|GRIA4_ENST00000525187.1_Missense_Mutation_p.V558I|GRIA4_ENST00000393127.2_Missense_Mutation_p.V558I			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	558					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTACATTGGTGTCAGCGTGGT	0.473																																																0													198	173	182					11																	105795320		2202	4299	6501	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1672G>A	11.37:g.105795320G>A	ENSP00000435775:p.Val558Ile		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977355	0.92982	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.55	5.55	0.83447	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000009	T	0.75019	0.3793	M	0.78344	2.41	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.986;0.995	T	0.77096	-0.2714	10	0.87932	D	0	.	19.8639	0.96797	0.0:0.0:1.0:0.0	.	558;558	P48058;G3V164	GRIA4_HUMAN;.	I	558	ENSP00000282499:V558I;ENSP00000376835:V558I;ENSP00000435775:V558I;ENSP00000432180:V558I	ENSP00000282499:V558I	V	+	1	0	GRIA4	105300530	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.772000	0.95346	0.650000	0.86243	GTC		0.473	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			A	105795320	G	A	105795320	3	1	342	1	0	0	0	0	1	0	0	0	6772	1377	48	2	1751	2	GRIA4	11	105795320	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	29897113	105795320	29211196	34	19718											
APOC3	345	hgsc.bcm.edu	37	11	116703546	116703546	+	Silent	SNP	T	T	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:116703546T>C	ENST00000227667.3	+	4	308	c.246T>C	c.(244-246)tcT>tcC	p.S82S	APOC3_ENST00000375345.1_Silent_p.S100S	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	82	Lipid-binding.				cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACAAGTTCTCTGAGTTCTGGG	0.557																																					GBM(81;259 1650 7161 35190)											0													119	110	113					11																	116703546		2201	4296	6497	SO:0001819	synonymous_variant	345			X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"Apolipoproteins"	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.246T>C	11.37:g.116703546T>C			Q08E83|Q6Q786	Silent	SNP	ENST00000227667.3	37	CCDS8377.1																																																																																				0.557	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106284.2	NM_000040		C	116703546	T	C	116703546	2	2	342	1	0	0	0	0	0	0	0	1	799	1567	55	3		3	APOC3	11	116703546	Silent	SNP	T	TCGA-BP-4351-01A-01D-1366-10	10908226	116703546	18302970	35	19719											
ROBO4	54538	hgsc.bcm.edu	37	11	124763776	124763776	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr11:124763776G>A	ENST00000306534.3	-	9	1969	c.1484C>T	c.(1483-1485)gCt>gTt	p.A495V	ROBO4_ENST00000533054.1_Missense_Mutation_p.A350V|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	495					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A495D(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTGCACCCTAGCTCGGCGCCG	0.632																																																1	Substitution - Missense(1)	ovary(1)											19	23	22					11																	124763776		2200	4297	6497	SO:0001583	missense	54538			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1484C>T	11.37:g.124763776G>A	ENSP00000304945:p.Ala495Val		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810268	0.50421	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64618	-0.11;0.26	5.31	4.34	0.51931	.	0.000000	0.37219	N	0.002184	T	0.57169	0.2035	M	0.63428	1.95	0.09310	N	1	B;P;P	0.44734	0.16;0.617;0.842	B;B;B	0.39660	0.088;0.306;0.095	T	0.59032	-0.7530	10	0.51188	T	0.08	.	11.1115	0.48235	0.0:0.1866:0.8134:0.0	.	495;385;495	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	V	495;385;350	ENSP00000304945:A495V;ENSP00000437129:A350V	ENSP00000304945:A495V	A	-	2	0	ROBO4	124268986	0.030000	0.19436	0.257000	0.24404	0.949000	0.60115	2.179000	0.42528	2.481000	0.83766	0.655000	0.94253	GCT		0.632	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		A	124763776	G	A	124763776	3	1	342	1	0	0	0	0	1	0	0	0	13522	971	34	2	1579	2	ROBO4	11	124763776	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	8060230	124763776	10242740	36	19720											
FGF6	2251	hgsc.bcm.edu	37	12	4553398	4553398	+	Silent	SNP	C	C	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr12:4553398C>G	ENST00000228837.2	-	2	394	c.351G>C	c.(349-351)ctG>ctC	p.L117L		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	117					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AAATTTCCAGCAGGCCTGACA	0.532																																																0													60	53	55					12																	4553398		2203	4300	6503	SO:0001819	synonymous_variant	2251			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.351G>C	12.37:g.4553398C>G			Q0VAE1	Silent	SNP	ENST00000228837.2	37	CCDS8527.1																																																																																				0.532	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		G	4553398	C	G	4553398	2	3	342	1	0	0	0	0	0	0	0	1	5858	697	25	4		4	FGF6	12	4553398	Silent	SNP	C	TCGA-BP-4351-01A-01D-1366-10		4553398	129298497	37	19721											
TAS2R9	50835	hgsc.bcm.edu;ucsc.edu	37	12	10962229	10962229	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr12:10962229T>A	ENST00000240691.2	-	1	538	c.446A>T	c.(445-447)aAt>aTt	p.N149I	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	149					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATATCATCATTCTTTGGAAC	0.358																																																0													54	56	55					12																	10962229		2203	4300	6503	SO:0001583	missense	50835			AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.446A>T	12.37:g.10962229T>A	ENSP00000240691:p.Asn149Ile		Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	T	9.152	1.016508	0.19355	.	.	ENSG00000121381	ENST00000240691	T	0.00768	5.72	4.3	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	1.555650	0.04166	U	0.323998	T	0.01189	0.0039	N	0.10809	0.05	0.09310	N	1	D	0.56968	0.978	D	0.63703	0.917	T	0.52193	-0.8608	10	0.18710	T	0.47	.	2.9576	0.05882	0.1892:0.1752:0.0:0.6356	.	149	Q9NYW1	TA2R9_HUMAN	I	149	ENSP00000240691:N149I	ENSP00000240691:N149I	N	-	2	0	TAS2R9	10853496	0.000000	0.05858	0.010000	0.14722	0.026000	0.11368	-0.837000	0.04377	0.474000	0.27392	0.481000	0.45027	AAT		0.358	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			A	10962229	T	A	10962229	3	1	342	1	0	0	0	0	1	0	0	0	15593	1493	52	5	496	5	TAS2R9	12	10962229	Missense_Mutation	SNP	T	TCGA-BP-4351-01A-01D-1366-10	6408831	10962229	122889666	38	19722											
STAT6	6778	hgsc.bcm.edu;ucsc.edu	37	12	57501489	57501489	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr12:57501489A>C	ENST00000300134.3	-	3	479	c.154T>G	c.(154-156)Ttg>Gtg	p.L52V	STAT6_ENST00000454075.3_Missense_Mutation_p.L52V|STAT6_ENST00000543873.2_Missense_Mutation_p.L52V|STAT6_ENST00000556155.1_Missense_Mutation_p.L52V|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000537215.2_5'UTR	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	52					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCACTAGCCAAGTTGCAGCAG	0.592																																																0													77	65	69					12																	57501489		2203	4300	6503	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.154T>G	12.37:g.57501489A>C	ENSP00000300134:p.Leu52Val		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	A	7.402	0.632992	0.14322	.	.	ENSG00000166888	ENST00000300134;ENST00000543873;ENST00000556155;ENST00000454075;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499;ENST00000553397;ENST00000554663;ENST00000554825;ENST00000557635;ENST00000553275	T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	4.88	2.5	0.30297	STAT transcription factor, protein interaction (4);	0.312383	0.35436	N	0.003217	T	0.27349	0.0671	L	0.27053	0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05550	-1.0878	10	0.20046	T	0.44	-11.3277	4.2639	0.10754	0.1769:0.0939:0.0:0.7292	.	52;52	A8K4S9;P42226	.;STAT6_HUMAN	V	52	ENSP00000300134:L52V;ENSP00000438451:L52V;ENSP00000451742:L52V;ENSP00000401486:L52V;ENSP00000452394:L52V;ENSP00000452373:L52V;ENSP00000451074:L52V;ENSP00000452203:L52V;ENSP00000450665:L52V;ENSP00000451209:L52V;ENSP00000450747:L52V;ENSP00000450732:L52V	ENSP00000300134:L52V	L	-	1	2	STAT6	55787756	0.995000	0.38212	1.000000	0.80357	0.874000	0.50279	0.278000	0.18753	0.358000	0.24211	-1.065000	0.02276	TTG		0.592	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		C	57501489	A	C	57501489	3	2	342	1	0	0	0	0	1	0	0	0	15275	69	3	5	2469	5	STAT6	12	57501489	Missense_Mutation	SNP	A	TCGA-BP-4351-01A-01D-1366-10	46539260	57501489	76350406	39	19723											
NUAK1	9891	hgsc.bcm.edu	37	12	106461281	106461281	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr12:106461281A>G	ENST00000261402.2	-	7	2664	c.1285T>C	c.(1285-1287)Ttc>Ctc	p.F429L		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	429					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCCATCTTGAAAGTAGAGGGT	0.577																																																0													75	76	75					12																	106461281		2203	4300	6503	SO:0001583	missense	9891			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1285T>C	12.37:g.106461281A>G	ENSP00000261402:p.Phe429Leu		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	A	9.457	1.092102	0.20471	.	.	ENSG00000074590	ENST00000261402	T	0.72051	-0.62	5.56	4.42	0.53409	.	0.000000	0.56097	D	0.000025	T	0.53883	0.1824	N	0.25647	0.755	0.40685	D	0.982341	B	0.02656	0.0	B	0.01281	0.0	T	0.44952	-0.9294	10	0.11794	T	0.64	.	11.429	0.50029	0.9293:0.0:0.0706:0.0	.	429	O60285	NUAK1_HUMAN	L	429	ENSP00000261402:F429L	ENSP00000261402:F429L	F	-	1	0	NUAK1	104985411	0.999000	0.42202	0.778000	0.31720	0.951000	0.60555	3.957000	0.56730	0.949000	0.37715	0.402000	0.26972	TTC		0.577	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		G	106461281	A	G	106461281	3	3	342	1	0	0	0	0	1	0	0	0	10714	14	1	3	704	3	NUAK1	12	106461281	Missense_Mutation	SNP	A	TCGA-BP-4351-01A-01D-1366-10	48959792	106461281	27390614	40	19724											
NALCN	259232	hgsc.bcm.edu;ucsc.edu	37	13	101944628	101944628	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr13:101944628G>A	ENST00000251127.6	-	8	970	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	NALCN_ENST00000376196.3_Missense_Mutation_p.R297C|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	297					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R297C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGTAGGAACGCCAACGGGGA	0.458																																																1	Substitution - Missense(1)	endometrium(1)											86	69	75					13																	101944628		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.889C>T	13.37:g.101944628G>A	ENSP00000251127:p.Arg297Cys		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062118	0.93846	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98437	-4.93;-4.93	6.16	6.16	0.99307	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.971;0.998;0.978	D	0.98648	1.0678	10	0.39692	T	0.17	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	297;297;297	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	C	297	ENSP00000251127:R297C;ENSP00000365367:R297C	ENSP00000251127:R297C	R	-	1	0	NALCN	100742629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.648000	0.83479	2.937000	0.99478	0.650000	0.86243	CGT		0.458	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	101944628	G	A	101944628	3	1	342	1	0	0	0	0	1	0	0	0	10150	1087	38	1	4475	1	NALCN	13	101944628	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10		101944628	13225250	41	19725											
BNC1	646	hgsc.bcm.edu;ucsc.edu	37	15	83926300	83926300	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr15:83926300A>T	ENST00000345382.2	-	5	2964	c.2879T>A	c.(2878-2880)gTa>gAa	p.V960E	BNC1_ENST00000569704.1_Missense_Mutation_p.V953E|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	960					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCAGCCTGGTACTTTGCATTT	0.507																																																0													143	140	141					15																	83926300		2203	4300	6503	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2879T>A	15.37:g.83926300A>T	ENSP00000307041:p.Val960Glu		Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.811446	0.90707	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.57436	0.4	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.063358	0.64402	D	0.000008	T	0.69351	0.3101	L	0.57536	1.79	0.58432	D	0.99999	D;D	0.76494	0.999;0.995	D;P	0.71184	0.972;0.821	T	0.71978	-0.4429	10	0.87932	D	0	-23.8929	16.379	0.83439	1.0:0.0:0.0:0.0	.	953;960	F5GY04;Q01954	.;BNC1_HUMAN	E	960;953	ENSP00000307041:V960E	ENSP00000307041:V960E	V	-	2	0	BNC1	81717304	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	9.262000	0.95591	2.268000	0.75426	0.455000	0.32223	GTA		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		T	83926300	A	T	83926300	3	4	342	1	0	0	0	0	1	0	0	0	1474	391	14	5	109	5	BNC1	15	83926300	Missense_Mutation	SNP	A	TCGA-BP-4351-01A-01D-1366-10		83926300	18605092	42	19726											
GLYR1	84656	hgsc.bcm.edu;ucsc.edu	37	16	4855240	4855240	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr16:4855240G>C	ENST00000321919.9	-	16	1735	c.1659C>G	c.(1657-1659)caC>caG	p.H553Q	GLYR1_ENST00000591451.1_Missense_Mutation_p.H547Q|ROGDI_ENST00000322048.7_5'Flank|GLYR1_ENST00000436648.5_Missense_Mutation_p.H472Q|GLYR1_ENST00000381983.3_Missense_Mutation_p.H536Q	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	553					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CGACAGCTTAGTGTATGTAGG	0.577																																																0													118	100	106					16																	4855240		2197	4300	6497	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1659C>G	16.37:g.4855240G>C	ENSP00000322716:p.His553Gln		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540037	0.45176	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.71698	-0.35;-0.3;-0.59	4.72	4.72	0.59763	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	N	0.08118	0	0.58432	D	0.999999	B;P;B;P	0.48016	0.132;0.904;0.056;0.744	B;B;B;P	0.46320	0.038;0.28;0.026;0.512	T	0.54925	-0.8220	10	0.30854	T	0.27	.	10.8623	0.46833	0.0926:0.0:0.9074:0.0	.	472;547;536;553	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	Q	553;536;472	ENSP00000322716:H553Q;ENSP00000371413:H536Q;ENSP00000390276:H472Q	ENSP00000322716:H553Q	H	-	3	2	GLYR1	4795241	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	4.516000	0.60496	2.159000	0.67721	0.655000	0.94253	CAC		0.577	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		C	4855240	G	C	4855240	3	2	342	1	0	0	0	0	1	0	0	0	6485	1020	36	4	6	4	GLYR1	16	4855240	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10		4855240	85499513	43	19727											
VWA3A	146177	hgsc.bcm.edu	37	16	22122217	22122217	+	Silent	SNP	C	C	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr16:22122217C>T	ENST00000389398.5	+	8	687	c.591C>T	c.(589-591)atC>atT	p.I197I	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	197						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGAGCCTCATCGATGAGCAGC	0.607																																																0													84	87	86					16																	22122217		2043	4198	6241	SO:0001819	synonymous_variant	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.591C>T	16.37:g.22122217C>T			A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	ENST00000389398.5	37	CCDS45441.1																																																																																				0.607	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			T	22122217	C	T	22122217	2	4	342	1	0	0	0	0	0	0	0	1	17245	874	31	1		1	VWA3A	16	22122217	Silent	SNP	C	TCGA-BP-4351-01A-01D-1366-10	17266977	22122217	68232536	44	19728											
LRRC48	83450	hgsc.bcm.edu;ucsc.edu	37	17	17910368	17910368	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr17:17910368C>G	ENST00000399187.1	+	12	1451	c.1233C>G	c.(1231-1233)caC>caG	p.H411Q	LRRC48_ENST00000313838.8_Missense_Mutation_p.H411Q|LRRC48_ENST00000399182.1_Missense_Mutation_p.H411Q|LRRC48_ENST00000411504.2_Missense_Mutation_p.H411Q|LRRC48_ENST00000584166.1_Missense_Mutation_p.H411Q	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	411						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TGGAGAATCACCACCACGAGA	0.647																																																0													36	40	38					17																	17910368		2019	4175	6194	SO:0001583	missense	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1233C>G	17.37:g.17910368C>G	ENSP00000382140:p.His411Gln		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761347	0.15914	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.34	1.75	0.24633	.	0.258781	0.43919	D	0.000517	T	0.20373	0.0490	N	0.20685	0.6	0.80722	D	1	B;B	0.23806	0.091;0.033	B;B	0.17433	0.007;0.018	T	0.15435	-1.0437	10	0.02654	T	1	-34.1312	9.1264	0.36818	0.0:0.6433:0.0:0.3567	.	411;411	Q9H069;Q9H069-2	LRC48_HUMAN;.	Q	411	ENSP00000326870:H411Q;ENSP00000394020:H411Q;ENSP00000382140:H411Q;ENSP00000382136:H411Q	ENSP00000326870:H411Q	H	+	3	2	LRRC48	17851093	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.524000	0.22940	0.623000	0.30267	-0.226000	0.12346	CAC		0.647	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		G	17910368	C	G	17910368	3	3	342	1	0	0	0	0	1	0	0	0	9007	506	18	4	1271	4	LRRC48	17	17910368	Missense_Mutation	SNP	C	TCGA-BP-4351-01A-01D-1366-10		17910368	63284842	45	19729											
C18orf21	83608	hgsc.bcm.edu;ucsc.edu	37	18	33557476	33557476	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr18:33557476T>G	ENST00000592875.1	+	4	1050	c.404T>G	c.(403-405)cTc>cGc	p.L135R	C18orf21_ENST00000333234.5_Missense_Mutation_p.L47R	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	135										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						ACAAGTAAACTCAGCCTGAAG	0.433																																																0													112	100	104					18																	33557476		2203	4300	6503	SO:0001583	missense	83608			BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.404T>G	18.37:g.33557476T>G	ENSP00000465517:p.Leu135Arg		Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	ENST00000592875.1	37	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	T	8.935	0.964440	0.18583	.	.	ENSG00000141428	ENST00000333234;ENST00000269194	T	0.44083	0.93	5.52	2.15	0.27550	.	0.722042	0.14076	N	0.343061	T	0.33847	0.0877	M	0.66939	2.045	0.09310	N	1	P	0.41265	0.744	B	0.40825	0.341	T	0.18871	-1.0323	10	0.08837	T	0.75	-5.5101	3.2658	0.06864	0.0:0.4196:0.252:0.3284	.	135	Q32NC0	CR021_HUMAN	R	135;47	ENSP00000269194:L47R	ENSP00000269194:L47R	L	+	2	0	C18orf21	31811474	0.002000	0.14202	0.056000	0.19401	0.095000	0.18619	1.241000	0.32743	0.149000	0.19098	0.455000	0.32223	CTC		0.433	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446		G	33557476	T	G	33557476	3	3	342	1	0	0	0	0	1	0	0	0	1899	1551	54	5	418	5	C18orf21	18	33557476	Missense_Mutation	SNP	T	TCGA-BP-4351-01A-01D-1366-10		33557476	44519772	46	19730											
TXNL4A	10907	hgsc.bcm.edu	37	18	77733688	77733688	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr18:77733688G>T	ENST00000269601.5	-	3	626	c.426C>A	c.(424-426)taC>taA	p.Y142*	TXNL4A_ENST00000585474.1_Nonsense_Mutation_p.Y71*|TXNL4A_ENST00000592957.1_Nonsense_Mutation_p.Y71*|TXNL4A_ENST00000592837.1_Nonsense_Mutation_p.Y71*|TXNL4A_ENST00000588162.1_3'UTR	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	142					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		GGGCGCCTCAGTAGCGGTACT	0.552																																					Ovarian(160;2333 2597 11821 36245)											0													77	80	79					18																	77733688		2203	4300	6503	SO:0001587	stop_gained	10907			AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"similar to S. pombe dim1+"	611595	"thioredoxin-like 4"	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.426C>A	18.37:g.77733688G>T	ENSP00000269601:p.Tyr142*		B2RC18|O14834	Nonsense_Mutation	SNP	ENST00000269601.5	37	CCDS32852.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349335	0.95830	.	.	ENSG00000141759	ENST00000269601	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0261	19.9113	0.97025	0.0:0.0:1.0:0.0	.	.	.	.	X	142	.	ENSP00000269601:Y142X	Y	-	3	2	TXNL4A	75834676	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.125000	0.50469	2.876000	0.98609	0.655000	0.94253	TAC		0.552	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451036.1	NM_006701		T	77733688	G	T	77733688	4	4	342	1	0	0	0	0	0	1	0	0	16810	1024	36	4	6	4	TXNL4A	18	77733688	Nonsense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	44176212	77733688	343560	47	19731											
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9087231	9087231	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:9087231T>G	ENST00000397910.4	-	1	4787	c.4584A>C	c.(4582-4584)agA>agC	p.R1528S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1528	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCCCCAGTTCTGCCCAAAC	0.468																																																0													305	285	292					19																	9087231		2017	4179	6196	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4584A>C	19.37:g.9087231T>G	ENSP00000381008:p.Arg1528Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.227	-0.377049	0.05000	.	.	ENSG00000181143	ENST00000397910	T	0.02837	4.14	0.821	-0.553	0.11815	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.10296	0.003	B	0.04013	0.001	T	0.44406	-0.9330	8	0.87932	D	0	.	2.8029	0.05419	0.4643:0.0:0.0:0.5357	.	1528	B5ME49	.	S	1528	ENSP00000381008:R1528S	ENSP00000381008:R1528S	R	-	3	2	MUC16	8948231	0.000000	0.05858	0.006000	0.13384	0.026000	0.11368	-0.758000	0.04766	-0.290000	0.09025	0.260000	0.18958	AGA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9087231	T	G	9087231	3	3	342	1	0	0	0	0	1	0	0	0	9975	1780	62	5	39275	5	MUC16	19	9087231	Missense_Mutation	SNP	T	TCGA-BP-4351-01A-01D-1366-10		9087231	50041752	48	19732											
GIPC1	10755	hgsc.bcm.edu	37	19	14591229	14591229	+	Silent	SNP	A	A	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:14591229A>G	ENST00000393033.4	-	6	812	c.543T>C	c.(541-543)atT>atC	p.I181I	GIPC1_ENST00000393028.1_Silent_p.I84I|GIPC1_ENST00000393029.3_Silent_p.I84I|GIPC1_ENST00000586027.1_Silent_p.I181I|GIPC1_ENST00000591349.1_Silent_p.I84I|GIPC1_ENST00000345425.2_Silent_p.I181I	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	181	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCTGCCCGTTAATGGCCTCGA	0.667											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)											0													71	72	72					19																	14591229		2203	4300	6503	SO:0001819	synonymous_variant	10755			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.543T>C	19.37:g.14591229A>G		696	A8K4I3|A8MZG3|Q9BTC9	Silent	SNP	ENST00000393033.4	37	CCDS12310.1																																																																																				0.667	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			G	14591229	A	G	14591229	2	3	342	1	0	0	0	0	0	0	0	1	6394	358	13	3		3	GIPC1	19	14591229	Silent	SNP	A	TCGA-BP-4351-01A-01D-1366-10	5503998	14591229	44537754	49	19733											
NWD1	284434	hgsc.bcm.edu	37	19	16910780	16910780	+	Silent	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:16910780G>T	ENST00000552788.1	+	15	3543	c.3543G>T	c.(3541-3543)ggG>ggT	p.G1181G	CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000523826.1_Silent_p.G975G|NWD1_ENST00000379808.3_Silent_p.G1181G|NWD1_ENST00000339803.6_Silent_p.G1046G|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000524140.2_Silent_p.G1181G			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1181							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCGCGGCGGGGCTTTGGTGG	0.622																																																0													51	50	50					19																	16910780		2203	4300	6503	SO:0001819	synonymous_variant	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3543G>T	19.37:g.16910780G>T			C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37																																																																																					0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		T	16910780	G	T	16910780	2	4	342	1	0	0	0	0	0	0	0	1	10783	1219	43	4		4	NWD1	19	16910780	Silent	SNP	G	TCGA-BP-4351-01A-01D-1366-10	2319551	16910780	42218203	50	19734											
CCDC97	90324	hgsc.bcm.edu	37	19	41822486	41822486	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:41822486C>A	ENST00000269967.3	+	2	366	c.244C>A	c.(244-246)Cag>Aag	p.Q82K		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	82										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CAGCCAGCAGCAGGGTGAACC	0.617																																																0													61	55	57					19																	41822486		2203	4300	6503	SO:0001583	missense	90324			BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.244C>A	19.37:g.41822486C>A	ENSP00000269967:p.Gln82Lys		Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.206352	0.01568	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.66	3.58	0.41010	.	0.409334	0.23062	N	0.052366	T	0.13543	0.0328	N	0.04063	-0.285	0.28770	N	0.900417	B	0.02656	0.0	B	0.04013	0.001	T	0.21965	-1.0230	9	0.02654	T	1	-3.0749	9.3167	0.37939	0.4391:0.5609:0.0:0.0	.	82	Q96F63	CCD97_HUMAN	K	82	.	ENSP00000269967:Q82K	Q	+	1	0	CCDC97	46514326	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	2.236000	0.43052	2.145000	0.66743	0.557000	0.71058	CAG		0.617	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		A	41822486	C	A	41822486	3	1	342	1	0	0	0	0	1	0	0	0	2877	711	25	4	250	4	CCDC97	19	41822486	Missense_Mutation	SNP	C	TCGA-BP-4351-01A-01D-1366-10	24911706	41822486	17306497	51	19735											
PRR19	284338	hgsc.bcm.edu	37	19	42814578	42814578	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:42814578G>A	ENST00000499536.2	+	2	1568	c.757G>A	c.(757-759)Ggg>Agg	p.G253R	PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Missense_Mutation_p.G253R|TMEM145_ENST00000598766.1_5'Flank|TMEM145_ENST00000301204.3_5'Flank			A6NJB7	PRR19_HUMAN	proline rich 19	253	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGCGCACAGGGGGAGTCTGGC	0.582																																																0													129	122	124					19																	42814578		2203	4300	6503	SO:0001583	missense	284338			AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.757G>A	19.37:g.42814578G>A	ENSP00000445247:p.Gly253Arg		A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972711	0.02215	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	3.89	2.86	0.33363	.	0.689771	0.11073	U	0.602703	T	0.20577	0.0495	N	0.14661	0.345	0.09310	N	1	B	0.27791	0.189	B	0.24848	0.056	T	0.15065	-1.0450	9	0.37606	T	0.19	0.0213	7.3674	0.26781	0.1179:0.0:0.8821:0.0	.	253	A6NJB7	PRR19_HUMAN	R	253	.	ENSP00000342709:G253R	G	+	1	0	PRR19	47506418	0.068000	0.21057	0.017000	0.16124	0.017000	0.09413	2.703000	0.47110	1.215000	0.43411	0.643000	0.83706	GGG		0.582	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		A	42814578	G	A	42814578	3	1	342	1	0	0	0	0	1	0	0	0	12596	1232	43	2	763	2	PRR19	19	42814578	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	992092	42814578	16314405	52	19736											
ZNF225	7768	hgsc.bcm.edu;ucsc.edu	37	19	44636673	44636673	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:44636673G>T	ENST00000262894.6	+	5	2186	c.1906G>T	c.(1906-1908)Gcc>Tcc	p.A636S	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.A636S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	636					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CTTCAGATGGGCCTCAACTCA	0.443																																																0													55	56	55					19																	44636673		2179	4288	6467	SO:0001583	missense	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1906G>T	19.37:g.44636673G>T	ENSP00000262894:p.Ala636Ser		A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	G	1.930	-0.446295	0.04604	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.05382	3.45	2.87	-1.22	0.09494	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01353	0.0044	N	0.01128	-1	0.09310	N	1	B	0.21688	0.059	B	0.22152	0.038	T	0.41574	-0.9501	9	0.02654	T	1	.	0.4803	0.00547	0.3798:0.1803:0.2624:0.1775	.	636	Q9UK10	ZN225_HUMAN	S	636;600	ENSP00000262894:A636S	ENSP00000262894:A636S	A	+	1	0	ZNF225	49328513	0.000000	0.05858	0.000000	0.03702	0.722000	0.41435	-2.154000	0.01285	-0.526000	0.06383	0.561000	0.74099	GCC		0.443	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			T	44636673	G	T	44636673	3	4	342	1	0	0	0	0	1	0	0	0	17784	1203	42	4	1920	4	ZNF225	19	44636673	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	1822095	44636673	14492310	53	19737											
PRKD2	25865	hgsc.bcm.edu	37	19	47177809	47177809	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:47177809C>T	ENST00000291281.4	-	18	2833	c.2608G>A	c.(2608-2610)Ggg>Agg	p.G870R	DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.G713R|PRKD2_ENST00000595515.1_Missense_Mutation_p.G880R|PRKD2_ENST00000433867.1_Missense_Mutation_p.G870R|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000600194.1_Missense_Mutation_p.G713R			Q9BZL6	KPCD2_HUMAN	protein kinase D2	870			G -> E (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCCGCCAGCCCCTGCATGTCG	0.632																																																0													45	33	37					19																	47177809		2203	4300	6503	SO:0001583	missense	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2608G>A	19.37:g.47177809C>T	ENSP00000291281:p.Gly870Arg		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646784	0.67358	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.65732	-0.17;-0.17	4.2	4.2	0.49525	.	0.082535	0.44902	D	0.000406	T	0.50446	0.1616	N	0.25647	0.755	0.39490	D	0.968037	B;B;B	0.14012	0.009;0.001;0.009	B;B;B	0.11329	0.006;0.004;0.006	T	0.52268	-0.8598	10	0.48119	T	0.1	-39.3968	15.8425	0.78861	0.0:1.0:0.0:0.0	.	880;355;870	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	R	870	ENSP00000291281:G870R;ENSP00000393978:G870R	ENSP00000291281:G870R	G	-	1	0	PRKD2	51869649	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	3.777000	0.55364	2.332000	0.79248	0.655000	0.94253	GGG		0.632	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		T	47177809	C	T	47177809	3	4	342	1	0	0	0	0	1	0	0	0	12524	623	22	2	32	2	PRKD2	19	47177809	Missense_Mutation	SNP	C	TCGA-BP-4351-01A-01D-1366-10	2541136	47177809	11951174	54	19738											
CCDC114	93233	hgsc.bcm.edu	37	19	48821663	48821663	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:48821663G>C	ENST00000315396.7	-	3	912	c.230C>G	c.(229-231)aCc>aGc	p.T77S	CCDC114_ENST00000497803.1_5'Flank	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	77					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		cagggccctggtctgctcctg	0.617																																																0													46	48	47					19																	48821663		692	1591	2283	SO:0001583	missense	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.230C>G	19.37:g.48821663G>C	ENSP00000318429:p.Thr77Ser		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	G	1.458	-0.563293	0.03939	.	.	ENSG00000105479	ENST00000315396	T	0.22134	1.97	4.56	-6.42	0.01932	.	.	.	.	.	T	0.07234	0.0183	N	0.19112	0.55	0.09310	N	1	B;B	0.21606	0.058;0.021	B;B	0.18871	0.023;0.013	T	0.40496	-0.9560	9	0.06625	T	0.88	-0.8531	1.0	0.01475	0.4312:0.1223:0.1851:0.2615	.	77;77	Q96M63;Q96M63-5	CC114_HUMAN;.	S	77	ENSP00000318429:T77S	ENSP00000318429:T77S	T	-	2	0	CCDC114	53513475	0.001000	0.12720	0.005000	0.12908	0.612000	0.37316	-0.939000	0.03933	-0.928000	0.03761	-0.225000	0.12378	ACC		0.617	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		C	48821663	G	C	48821663	3	2	342	1	0	0	0	0	1	0	0	0	2753	1261	44	4	1830	4	CCDC114	19	48821663	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	1643854	48821663	10307320	55	19739											
SIGLEC8	27181	hgsc.bcm.edu	37	19	51958885	51958885	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:51958885G>A	ENST00000321424.3	-	4	904	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R187C|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R171C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	280	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGACCAGGCGCAGAGACTGG	0.592																																																0													72	71	71					19																	51958885		2203	4300	6503	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.838C>T	19.37:g.51958885G>A	ENSP00000321077:p.Arg280Cys		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	11.51	1.661657	0.29515	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.12672	2.66;2.66;2.66	2.19	-0.0813	0.13703	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198225	0.25154	N	0.032724	T	0.11196	0.0273	M	0.63843	1.955	0.09310	N	1	P;P;B	0.44690	0.838;0.841;0.434	B;B;B	0.39590	0.259;0.304;0.189	T	0.18335	-1.0340	10	0.30854	T	0.27	.	4.8029	0.13305	0.311:0.0:0.689:0.0	.	171;187;280	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	C	171;280;187	ENSP00000389142:R171C;ENSP00000321077:R280C;ENSP00000339448:R187C	ENSP00000321077:R280C	R	-	1	0	SIGLEC8	56650697	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.052000	0.11865	0.057000	0.16193	0.502000	0.49764	CGC		0.592	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		A	51958885	G	A	51958885	3	1	342	1	0	0	0	0	1	0	0	0	14320	1087	38	1	677	1	SIGLEC8	19	51958885	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	3137222	51958885	7170098	56	19740											
CNOT3	4849	hgsc.bcm.edu;ucsc.edu	37	19	54656179	54656179	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr19:54656179A>T	ENST00000406403.1	+	14	3323	c.1720A>T	c.(1720-1722)Agt>Tgt	p.S574C	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.S574C|CNOT3_ENST00000358389.3_Missense_Mutation_p.S393C			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	574	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CATCCTGAGCAGTACATCAGC	0.672																																																0													109	121	117					19																	54656179		2203	4300	6503	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1720A>T	19.37:g.54656179A>T	ENSP00000383954:p.Ser574Cys		Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.26|16.26	3.072043|3.072043	0.55646|0.55646	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000457463|ENST00000221232;ENST00000358389;ENST00000406403	.|T;T	.|0.49432	.|0.78;0.78	4.32|4.32	3.3|3.3	0.37823|0.37823	.|.	.|0.601201	.|0.16414	.|N	.|0.215475	T|T	0.45677|0.45677	0.1354|0.1354	L|L	0.51422|0.51422	1.61|1.61	0.20638|0.20638	N|N	0.999877|0.999877	.|B;P;B;B	.|0.50272	.|0.001;0.933;0.0;0.003	.|B;P;B;B	.|0.46339	.|0.001;0.513;0.0;0.002	T|T	0.32322|0.32322	-0.9911|-0.9911	5|10	.|0.62326	.|D	.|0.03	-12.5158|-12.5158	9.0286|9.0286	0.36245|0.36245	0.9087:0.0:0.0913:0.0|0.9087:0.0:0.0913:0.0	.|.	.|574;393;574;498	.|B7Z6J7;O75175-3;O75175;Q6ZMJ6	.|.;.;CNOT3_HUMAN;.	L|C	105|574;393;574	.|ENSP00000221232:S574C;ENSP00000383954:S574C	.|ENSP00000221232:S574C	Q|S	+|+	2|1	0|0	CNOT3|CNOT3	59347991|59347991	0.661000|0.661000	0.27430|0.27430	0.805000|0.805000	0.32314|0.32314	0.803000|0.803000	0.45373|0.45373	1.650000|1.650000	0.37292|0.37292	0.634000|0.634000	0.30469|0.30469	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.672	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		T	54656179	A	T	54656179	3	4	342	1	0	0	0	0	1	0	0	0	3622	188	7	5	1774	5	CNOT3	19	54656179	Missense_Mutation	SNP	A	TCGA-BP-4351-01A-01D-1366-10	2697294	54656179	4472804	57	19741											
GGT7	2686	hgsc.bcm.edu;ucsc.edu	37	20	33450696	33450696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chr20:33450696G>A	ENST00000336431.5	-	3	522	c.478C>T	c.(478-480)Cag>Tag	p.Q160*		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	160					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GAAGATCCCTGTTTACTGAGC	0.617																																																0													73	58	63					20																	33450696		2203	4300	6503	SO:0001587	stop_gained	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.478C>T	20.37:g.33450696G>A	ENSP00000338964:p.Gln160*		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Nonsense_Mutation	SNP	ENST00000336431.5	37	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	g	15.96	2.985896	0.53934	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	.	.	.	5.25	4.24	0.50183	.	0.232106	0.38897	N	0.001533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.8878	12.3908	0.55358	0.0:0.1345:0.7429:0.1226	.	.	.	.	X	160;177	.	ENSP00000338964:Q160X	Q	-	1	0	GGT7	32914357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.221000	0.72243	2.454000	0.82982	0.651000	0.88453	CAG		0.617	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		A	33450696	G	A	33450696	4	1	342	1	0	0	0	0	0	1	0	0	6366	1386	48	2	1562	2	GGT7	20	33450696	Nonsense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10		33450696	29574824	58	19742											
MAGEB16	139604	hgsc.bcm.edu;ucsc.edu	37	X	35821146	35821146	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:35821146G>A	ENST00000399989.1	+	2	1112	c.833G>A	c.(832-834)gGc>gAc	p.G278D	MAGEB16_ENST00000399992.1_Missense_Mutation_p.G310D|MAGEB16_ENST00000399988.1_Missense_Mutation_p.G278D|MAGEB16_ENST00000399985.1_Missense_Mutation_p.G278D|MAGEB16_ENST00000399987.1_Missense_Mutation_p.G278D	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	278	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCCTGTGGGGCCCAAGAGCC	0.493																																																0													36	37	36					X																	35821146		2201	4300	6501	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.833G>A	X.37:g.35821146G>A	ENSP00000382871:p.Gly278Asp		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058599	0.36277	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	3.13	2.27	0.28462	.	0.051919	0.85682	N	0.000000	T	0.45276	0.1334	M	0.93808	3.46	0.26833	N	0.968549	D	0.89917	1.0	D	0.83275	0.996	T	0.33497	-0.9866	10	0.62326	D	0.03	.	5.8226	0.18536	0.1511:0.0:0.8489:0.0	.	278	A2A368	MAGBG_HUMAN	D	278;310;278;278;278	ENSP00000382870:G278D;ENSP00000382874:G310D;ENSP00000382869:G278D;ENSP00000382871:G278D;ENSP00000382867:G278D	ENSP00000382867:G278D	G	+	2	0	MAGEB16	35731067	0.988000	0.35896	0.781000	0.31783	0.473000	0.32948	1.830000	0.39131	0.743000	0.32719	-0.286000	0.09958	GGC		0.493	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			A	35821146	G	A	35821146	3	1	342	1	0	0	0	0	1	0	0	0	9176	1203	42	2	835	2	MAGEB16	23	35821146	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10		35821146	119449414	59	19743											
CCNB3	85417	hgsc.bcm.edu;ucsc.edu	37	X	50090767	50090767	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:50090767G>A	ENST00000376042.1	+	11	4251	c.3953G>A	c.(3952-3954)gGa>gAa	p.G1318E	CCNB3_ENST00000376038.1_Missense_Mutation_p.G214E|CCNB3_ENST00000348603.2_Missense_Mutation_p.G214E|CCNB3_ENST00000276014.7_Missense_Mutation_p.G1318E			Q8WWL7	CCNB3_HUMAN	cyclin B3	1318					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAGAAGCTCGGATACTGGGTA	0.498																																																0													61	47	52					X																	50090767		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3953G>A	X.37:g.50090767G>A	ENSP00000365210:p.Gly1318Glu		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488159	0.44249	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	4.96	0.544	0.17185	Cyclin, C-terminal (1);Cyclin-like (3);	1.362850	0.05259	N	0.515322	T	0.31071	0.0785	L	0.50993	1.605	0.09310	N	1	P;D;P	0.57899	0.8;0.981;0.872	P;P;P	0.55303	0.561;0.773;0.636	T	0.15983	-1.0418	9	.	.	.	.	5.7635	0.18213	0.289:0.1322:0.5788:0.0	.	1318;214;1318	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	E	1318;214;214;1318	ENSP00000365210:G1318E;ENSP00000365206:G214E;ENSP00000338682:G214E;ENSP00000276014:G1318E	.	G	+	2	0	CCNB3	50107507	0.404000	0.25328	0.000000	0.03702	0.001000	0.01503	1.783000	0.38664	-0.278000	0.09180	-0.368000	0.07277	GGA		0.498	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			A	50090767	G	A	50090767	3	1	342	1	0	0	0	0	1	0	0	0	2916	1174	41	2	3987	2	CCNB3	23	50090767	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	14269621	50090767	105179793	60	19744											
KDM5C	8242	ucsc.edu	37	X	53224160	53224160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	C	-	C	C	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:53224160delC	ENST00000375401.3	-	22	3923	c.3391delG	c.(3391-3393)gagfs	p.E1131fs	KDM5C_ENST00000404049.3_Frame_Shift_Del_p.E1130fs|KDM5C_ENST00000452825.3_Frame_Shift_Del_p.E1064fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.E1090fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.E1131fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1131					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCCAGCAGCTCTGTGTCAGAT	0.597			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													73	54	61					X																	53224160		2203	4300	6503	SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3391delG	X.37:g.53224160delC	ENSP00000364550:p.Glu1131fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.597	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		-	53224160	C	-	53224160	7	5	342	1	0	1	0	1	0	0	0	0	8137	922	32	0	1409	0	KDM5C	23	53224160	Frame_Shift_Del	DEL	C	TCGA-BP-4351-01A-01D-1366-10	3133393	53224160	102046400	61	19745											
TEX11	56159	hgsc.bcm.edu;ucsc.edu	37	X	69811638	69811638	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:69811638C>A	ENST00000395889.2	-	26	2303	c.2148G>T	c.(2146-2148)caG>caT	p.Q716H	TEX11_ENST00000374333.2_Missense_Mutation_p.Q701H|TEX11_ENST00000344304.3_Missense_Mutation_p.Q716H|TEX11_ENST00000374320.2_Missense_Mutation_p.Q391H	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	716					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CATTGCATGTCTGGATCTCCT	0.378																																																0													152	106	121					X																	69811638		2203	4300	6503	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2148G>T	X.37:g.69811638C>A	ENSP00000379226:p.Gln716His		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	3.256	-0.152135	0.06585	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.53206	1.24;1.25;0.63;1.25	3.71	-1.75	0.08031	.	0.841423	0.10644	N	0.650642	T	0.21921	0.0528	N	0.13003	0.285	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.16837	-1.0389	9	.	.	.	3.9922	1.7224	0.02915	0.2938:0.4269:0.1177:0.1615	.	701;716	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	H	701;716;391;716	ENSP00000363453:Q701H;ENSP00000379226:Q716H;ENSP00000363440:Q391H;ENSP00000340995:Q716H	.	Q	-	3	2	TEX11	69728363	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	-0.102000	0.10956	-0.449000	0.07117	-1.158000	0.01797	CAG		0.378	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			A	69811638	C	A	69811638	3	1	342	1	0	0	0	0	1	0	0	0	15779	912	32	4	698	4	TEX11	23	69811638	Missense_Mutation	SNP	C	TCGA-BP-4351-01A-01D-1366-10	16587478	69811638	85458922	62	19746											
UBE2A	7319	hgsc.bcm.edu;ucsc.edu	37	X	118716565	118716565	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:118716565A>G	ENST00000371558.2	+	5	430	c.256A>G	c.(256-258)Agt>Ggt	p.S86G	UBE2A_ENST00000371569.5_Missense_Mutation_p.S11G|UBE2A_ENST00000346330.3_Missense_Mutation_p.S56G	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	86					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						TGCAGATGGTAGTATATGTCT	0.353								Rad6 pathway																																								0													192	176	182					X																	118716565		2203	4300	6503	SO:0001583	missense	7319			AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"Ubiquitin-conjugating enzymes E2"	12472	protein-coding gene	gene with protein product		312180	"ubiquitin-conjugating enzyme E2A (RAD6 homolog)"			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.256A>G	X.37:g.118716565A>G	ENSP00000360613:p.Ser86Gly		A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Missense_Mutation	SNP	ENST00000371558.2	37	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078274	0.55753	.	.	ENSG00000077721	ENST00000371558;ENST00000346330;ENST00000371569	T;T;T	0.38401	1.14;1.14;1.14	5.74	5.74	0.90152	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	L	0.41824	1.3	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.04840	-1.0923	10	0.38643	T	0.18	-4.8775	14.1022	0.65065	1.0:0.0:0.0:0.0	.	56;86	A6NGR2;P49459	.;UBE2A_HUMAN	G	86;56;11	ENSP00000360613:S86G;ENSP00000335027:S56G;ENSP00000360624:S11G	ENSP00000335027:S56G	S	+	1	0	UBE2A	118600593	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.329000	0.96413	1.928000	0.55862	0.481000	0.45027	AGT		0.353	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336		G	118716565	A	G	118716565	3	3	342	1	0	0	0	0	1	0	0	0	16849	420	15	3	274	3	UBE2A	23	118716565	Missense_Mutation	SNP	A	TCGA-BP-4351-01A-01D-1366-10	48904927	118716565	36553995	63	19747											
PHF6	84295	hgsc.bcm.edu;ucsc.edu	37	X	133547905	133547905	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:133547905G>T	ENST00000332070.3	+	7	840	c.638G>T	c.(637-639)gGa>gTa	p.G213V	PHF6_ENST00000394292.1_Missense_Mutation_p.G214V|PHF6_ENST00000370803.3_Missense_Mutation_p.G213V|PHF6_ENST00000416404.2_Missense_Mutation_p.G179V|PHF6_ENST00000370799.1_Missense_Mutation_p.G214V|PHF6_ENST00000370800.4_Missense_Mutation_p.G214V	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	213	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					CCTAAATGTGGATTTTGCCAT	0.398			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)		Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	0													109	98	102					X																	133547905		2203	4300	6503	SO:0001583	missense	84295			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.638G>T	X.37:g.133547905G>T	ENSP00000329097:p.Gly213Val		A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234748	0.58886	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;D;D	0.89746	-2.56;-2.56;-1.96;-2.55;-1.54;-2.47	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89949	0.6863	L	0.29908	0.895	0.80722	D	1	P;D;D;D;P	0.89917	0.761;1.0;1.0;1.0;0.933	B;D;D;D;P	0.97110	0.42;1.0;0.998;0.998;0.732	D	0.85367	0.1111	10	0.07482	T	0.82	-19.3005	17.6836	0.88250	0.0:0.0:1.0:0.0	.	179;213;213;214;214	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	V	213;213;214;214;179;214	ENSP00000359839:G213V;ENSP00000329097:G213V;ENSP00000377831:G214V;ENSP00000359835:G214V;ENSP00000394480:G179V;ENSP00000359836:G214V	ENSP00000329097:G213V	G	+	2	0	PHF6	133375571	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	9.399000	0.97285	2.480000	0.83734	0.594000	0.82650	GGA		0.398	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		T	133547905	G	T	133547905	3	4	342	1	0	0	0	0	1	0	0	0	11840	1174	41	4	663	4	PHF6	23	133547905	Missense_Mutation	SNP	G	TCGA-BP-4351-01A-01D-1366-10	14831340	133547905	21722655	64	19748											
DUSP9	1852	hgsc.bcm.edu;ucsc.edu	37	X	152915555	152915555	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4351-01A-01D-1366-10	TCGA-BP-4351-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dfe72e10-d0cd-47dd-a0f2-c6517849c2fc	9c41f931-d361-47f4-a1c4-87c7114b3ccf	g.chrX:152915555A>G	ENST00000342782.3	+	4	1215	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	DUSP9_ENST00000370167.4_Missense_Mutation_p.Y317C			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	317	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AACGATGCCTATGACCTGGTC	0.587																																																0													298	257	271					X																	152915555		2203	4300	6503	SO:0001583	missense	1852			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3076	protein-coding gene	gene with protein product	"map kinase phosphatase 4"	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.950A>G	X.37:g.152915555A>G	ENSP00000345853:p.Tyr317Cys		D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	CCDS14724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	20.3|20.3	3.965625|3.965625	0.74131|0.74131	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000433144|ENST00000370167;ENST00000342782	.|D;D	.|0.87103	.|-2.21;-2.21	4.83|4.83	3.63|3.63	0.41609|0.41609	.|Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.|0.000000	.|0.56097	.|D	.|0.000027	D|D	0.92218|0.92218	0.7532|0.7532	M|M	0.90595|0.90595	3.13|3.13	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.56035	.|0.974	.|P	.|0.56788	.|0.806	D|D	0.91584|0.91584	0.5281|0.5281	5|10	.|0.72032	.|D	.|0.01	.|.	9.1555|9.1555	0.36990|0.36990	0.8344:0.0:0.0:0.1656|0.8344:0.0:0.0:0.1656	.|.	.|317	.|Q99956	.|DUS9_HUMAN	V|C	288|317	.|ENSP00000359186:Y317C;ENSP00000345853:Y317C	.|ENSP00000345853:Y317C	M|Y	+|+	1|2	0|0	DUSP9|DUSP9	152568749|152568749	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.986000|0.986000	0.74619|0.74619	7.170000|7.170000	0.77587|0.77587	0.658000|0.658000	0.30925|0.30925	0.430000|0.430000	0.28490|0.28490	ATG|TAT		0.587	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		G	152915555	A	G	152915555	3	3	342	1	0	0	0	0	1	0	0	0	4834	449	16	3	960	3	DUSP9	23	152915555	Missense_Mutation	SNP	A	TCGA-BP-4351-01A-01D-1366-10	19367650	152915555	2355005	65	19749											
PADI6	353238	hgsc.bcm.edu;ucsc.edu	37	1	17708507	17708507	+	RNA	SNP	G	G	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:17708507G>T	ENST00000434762.2	+	0	649							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAAGGCCCCAGCTGTATCTTA	0.498																																																0													85	85	85					1																	17708507		1911	4117	6028			353238			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17708507G>T			Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37																																																																																					0.498	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		T	17708507	G	T	17708507	1	4	343	0	1	0	0	0	0	0	0	0	11383	971	34	4		4	PADI6	1	17708507	RNA	SNP	G	TCGA-BP-4352-01A-01D-1366-10		17708507	231542114	1	19750											
MACF1	23499	hgsc.bcm.edu;ucsc.edu	37	1	39889851	39889851	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:39889851G>T	ENST00000372915.3	+	60	16403	c.16316G>T	c.(16315-16317)aGt>aTt	p.S5439I	MACF1_ENST00000539005.1_Missense_Mutation_p.S3351I|MACF1_ENST00000567887.1_Missense_Mutation_p.S5471I|MACF1_ENST00000361689.2_Missense_Mutation_p.S3372I|MACF1_ENST00000564288.1_Missense_Mutation_p.S5434I|MACF1_ENST00000289893.4_Missense_Mutation_p.S3874I|MACF1_ENST00000545844.1_Missense_Mutation_p.S3372I|MACF1_ENST00000317713.7_Missense_Mutation_p.S3372I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5439					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACTACTCAGTAAGGCAGCA	0.443																																																0													82	83	83					1																	39889851		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16316G>T	1.37:g.39889851G>T	ENSP00000362006:p.Ser5439Ile		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.44|14.44	2.534914|2.534914	0.45073|0.45073	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.51817	.|0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.48|5.48	1.49|1.49	0.22878|0.22878	.|.	.|0.518810	.|0.20551	.|N	.|0.090107	T|T	0.40473|0.40473	0.1118|0.1118	N|N	0.22421|0.22421	0.69|0.69	0.46149|0.46149	D|D	0.99889|0.99889	.|P;D;B	.|0.57257	.|0.74;0.979;0.179	.|B;P;B	.|0.54544	.|0.418;0.755;0.086	T|T	0.21280|0.21280	-1.0250|-1.0250	5|10	.|0.51188	.|T	.|0.08	.|.	5.3947|5.3947	0.16263|0.16263	0.2896:0.1365:0.5738:0.0|0.2896:0.1365:0.5738:0.0	.|.	.|5439;3372;3316	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	H|I	2484|3372;5439;3372;3372;3351;3874;188	.|ENSP00000439537:S3372I;ENSP00000362006:S5439I;ENSP00000354573:S3372I;ENSP00000313438:S3372I;ENSP00000444364:S3351I;ENSP00000289893:S3874I;ENSP00000433104:S188I	.|ENSP00000289893:S3874I	Q|S	+|+	3|2	2|0	MACF1|MACF1	39662438|39662438	0.240000|0.240000	0.23847|0.23847	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.565000|0.565000	0.23578|0.23578	0.268000|0.268000	0.21939|0.21939	0.655000|0.655000	0.94253|0.94253	CAG|AGT		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39889851	G	T	39889851	3	4	343	1	0	0	0	0	1	0	0	0	9146	1029	36	4	16488	4	MACF1	1	39889851	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	22181344	39889851	209360770	2	19751											
ZNF642	339559	hgsc.bcm.edu;ucsc.edu	37	1	40954792	40954792	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:40954792C>G	ENST00000372706.1	+	4	1258	c.252C>G	c.(250-252)gaC>gaG	p.D84E	ZFP69_ENST00000372705.3_Missense_Mutation_p.D84E			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TATCTATTGACTTCACCCAGG	0.463																																																0													67	68	67					1																	40954792		2203	4300	6503	SO:0001583	missense	0			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.252C>G	1.37:g.40954792C>G	ENSP00000361791:p.Asp84Glu		Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	.	13.71	2.319311	0.41096	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.01981	4.52;4.52	3.62	2.65	0.31530	Krueppel-associated box (4);	0.000000	0.36234	N	0.002715	T	0.01765	0.0056	L	0.39467	1.215	0.27422	N	0.954264	P	0.44344	0.833	B	0.32583	0.148	T	0.49341	-0.8950	10	0.41790	T	0.15	-6.7041	6.4827	0.22071	0.0:0.8579:0.0:0.1421	.	84	Q49AA0	ZN642_HUMAN	E	84	ENSP00000361791:D84E;ENSP00000361790:D84E	ENSP00000361790:D84E	D	+	3	2	ZNF642	40727379	0.999000	0.42202	1.000000	0.80357	0.919000	0.55068	0.258000	0.18387	1.038000	0.40049	0.655000	0.94253	GAC		0.463	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		G	40954792	C	G	40954792	3	3	343	1	0	0	0	0	1	0	0	0	18063	564	20	4	262	4	ZNF642	1	40954792	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	1064941	40954792	208295829	3	19752											
PCSK9	255738	hgsc.bcm.edu	37	1	55512295	55512295	+	Missense_Mutation	SNP	C	C	G	rs137878146		TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:55512295C>G	ENST00000302118.5	+	3	789	c.499C>G	c.(499-501)Cgg>Ggg	p.R167G	PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.R167G	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	167					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCCACGGTACCGGGCGGATGA	0.622																																					Pancreas(137;1454 1827 5886 22361 42375)											0													63	62	62					1																	55512295		2203	4300	6503	SO:0001583	missense	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.499C>G	1.37:g.55512295C>G	ENSP00000303208:p.Arg167Gly		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	CCDS603.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360666	0.24598	.	.	ENSG00000169174	ENST00000302118;ENST00000452118	T;T	0.74526	-0.85;-0.57	4.55	2.3	0.28687	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	1.726230	0.03275	N	0.185375	T	0.56307	0.1976	N	0.08118	0	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.44190	-0.9344	10	0.22706	T	0.39	-5.7805	8.2587	0.31771	0.4711:0.4224:0.1066:0.0	.	167	Q8NBP7	PCSK9_HUMAN	G	167	ENSP00000303208:R167G;ENSP00000401598:R167G	ENSP00000303208:R167G	R	+	1	2	PCSK9	55284883	0.000000	0.05858	0.055000	0.19348	0.249000	0.25844	-0.032000	0.12266	0.807000	0.34208	0.561000	0.74099	CGG		0.622	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		G	55512295	C	G	55512295	3	3	343	1	0	0	0	0	1	0	0	0	11608	643	23	4	509	4	PCSK9	1	55512295	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	14557503	55512295	193738326	4	19753											
PPM1J	333926	hgsc.bcm.edu	37	1	113252813	113252813	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:113252813G>C	ENST00000309276.6	-	10	1665	c.1490C>G	c.(1489-1491)cCc>cGc	p.P497R	RHOC_ENST00000339083.7_5'Flank|RP11-426L16.10_ENST00000606505.1_Intron|RP11-426L16.10_ENST00000471038.2_Intron|PPM1J_ENST00000464951.1_Missense_Mutation_p.P291R|RHOC_ENST00000369642.3_5'Flank|PPM1J_ENST00000359994.4_Missense_Mutation_p.P291R	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	497	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTCCCAGGGGGATGACGAA	0.612																																																0													61	65	64					1																	113252813		2203	4300	6503	SO:0001583	missense	333926			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1490C>G	1.37:g.113252813G>C	ENSP00000308926:p.Pro497Arg		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	CCDS855.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406440	0.83230	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.08282	3.11;3.11	5.77	5.77	0.91146	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00731	-1.1590	10	0.87932	D	0	-16.6862	19.5912	0.95511	0.0:0.0:1.0:0.0	.	497;291	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	R	497;291	ENSP00000308926:P497R;ENSP00000353088:P291R	ENSP00000308926:P497R	P	-	2	0	PPM1J	113054336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.431000	0.97494	2.744000	0.94065	0.561000	0.74099	CCC		0.612	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		C	113252813	G	C	113252813	3	2	343	1	0	0	0	0	1	0	0	0	12347	1232	43	4	31	4	PPM1J	1	113252813	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	57740518	113252813	135997808	5	19754											
LRIG2	9860	hgsc.bcm.edu;ucsc.edu	37	1	113652931	113652931	+	Silent	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:113652931G>A	ENST00000361127.5	+	13	1743	c.1545G>A	c.(1543-1545)gtG>gtA	p.V515V	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	515	Ig-like C2-type 1.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GCATGAATGTGACTCTGACGT	0.453																																																0													155	139	144					1																	113652931		2203	4300	6503	SO:0001819	synonymous_variant	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1545G>A	1.37:g.113652931G>A			Q9NSN2	Silent	SNP	ENST00000361127.5	37	CCDS30808.1																																																																																				0.453	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		A	113652931	G	A	113652931	2	1	343	1	0	0	0	0	0	0	0	1	8947	1277	45	2		2	LRIG2	1	113652931	Silent	SNP	G	TCGA-BP-4352-01A-01D-1366-10	400118	113652931	135597690	6	19755											
TNR	7143	hgsc.bcm.edu	37	1	175355249	175355249	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:175355249G>T	ENST00000367674.2	-	8	2404	c.1696C>A	c.(1696-1698)Cct>Act	p.P566T	TNR_ENST00000263525.2_Missense_Mutation_p.P566T			Q92752	TENR_HUMAN	tenascin R	566	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.P566S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGGGAGCCAGGCCGCAGGGCC	0.607																																																1	Substitution - Missense(1)	pancreas(1)											62	60	61					1																	175355249		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1696C>A	1.37:g.175355249G>T	ENSP00000356646:p.Pro566Thr		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916492	0.73098	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.68479	-0.33;-0.33	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84991	0.5595	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87170	0.2220	10	0.87932	D	0	.	19.1714	0.93580	0.0:0.0:1.0:0.0	.	566	Q92752	TENR_HUMAN	T	566	ENSP00000356646:P566T;ENSP00000263525:P566T	ENSP00000263525:P566T	P	-	1	0	TNR	173621872	1.000000	0.71417	0.993000	0.49108	0.325000	0.28411	8.911000	0.92721	2.613000	0.88420	0.650000	0.86243	CCT		0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175355249	G	T	175355249	3	4	343	1	0	0	0	0	1	0	0	0	16343	1203	42	4	2444	4	TNR	1	175355249	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	61702318	175355249	73895372	7	19756											
HHAT	55733	hgsc.bcm.edu	37	1	210761285	210761285	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:210761285G>T	ENST00000367010.1	+	10	1314	c.1087G>T	c.(1087-1089)Ggg>Tgg	p.G363W	HHAT_ENST00000413764.2_Missense_Mutation_p.G363W|HHAT_ENST00000545154.1_Missense_Mutation_p.G364W|HHAT_ENST00000308852.6_Missense_Mutation_p.G318W|HHAT_ENST00000545781.1_Missense_Mutation_p.G300W|HHAT_ENST00000537898.1_Missense_Mutation_p.G298W|HHAT_ENST00000261458.3_Missense_Mutation_p.G363W|HHAT_ENST00000391905.3_Missense_Mutation_p.G363W|HHAT_ENST00000367009.1_Missense_Mutation_p.G53W|HHAT_ENST00000541565.1_Missense_Mutation_p.G226W	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	363					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGGCCTGCTGGGGACACTGTT	0.557																																																0													85	77	80					1																	210761285		2203	4300	6503	SO:0001583	missense	55733			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1087G>T	1.37:g.210761285G>T	ENSP00000355977:p.Gly363Trp		B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758267	0.49468	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	5.69	3.78	0.43462	.	0.262962	0.40222	N	0.001157	T	0.65719	0.2718	L	0.54323	1.7	0.34075	D	0.658913	P;P;P;P;P	0.40000	0.51;0.455;0.543;0.698;0.695	B;B;B;B;B	0.38712	0.273;0.178;0.28;0.232;0.223	T	0.73739	-0.3888	10	0.49607	T	0.09	-17.7309	6.1452	0.20280	0.147:0.0:0.696:0.157	.	318;364;226;298;363	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	W	363;226;364;298;363;300;363;318;363;53	ENSP00000416845:G363W;ENSP00000444995:G226W;ENSP00000438468:G364W;ENSP00000442625:G298W;ENSP00000375773:G363W;ENSP00000439229:G300W;ENSP00000261458:G363W;ENSP00000308628:G318W;ENSP00000355977:G363W;ENSP00000355976:G53W	ENSP00000261458:G363W	G	+	1	0	HHAT	208827908	0.975000	0.34042	1.000000	0.80357	0.994000	0.84299	1.255000	0.32909	1.380000	0.46344	0.655000	0.94253	GGG		0.557	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		T	210761285	G	T	210761285	3	4	343	1	0	0	0	0	1	0	0	0	7091	1232	43	4	1219	4	HHAT	1	210761285	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	35406036	210761285	38489336	8	19757											
INTS7	25896	hgsc.bcm.edu	37	1	212161322	212161322	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:212161322C>G	ENST00000366994.3	-	8	1007	c.903G>C	c.(901-903)caG>caC	p.Q301H	INTS7_ENST00000366993.3_Missense_Mutation_p.Q301H|INTS7_ENST00000366992.3_Missense_Mutation_p.Q301H|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.Q252H	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	301					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CATAAGGAGTCTGGAGGGCAC	0.393																																																0													117	104	108					1																	212161322		2203	4300	6503	SO:0001583	missense	25896			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.903G>C	1.37:g.212161322C>G	ENSP00000355961:p.Gln301His		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370382	0.24771	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.17	4.94	-0.844	0.10741	Armadillo-like helical (1);Armadillo-type fold (1);	0.376195	0.30410	N	0.009681	T	0.34077	0.0885	N	0.05199	-0.095	0.28183	N	0.928073	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.07252	-1.0782	10	0.37606	T	0.19	-6.607	1.4823	0.02439	0.1185:0.2819:0.2602:0.3393	.	252;301;301;301	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	H	301;301;301;252	ENSP00000355961:Q301H;ENSP00000355960:Q301H;ENSP00000355959:Q301H;ENSP00000388908:Q252H	ENSP00000355959:Q301H	Q	-	3	2	INTS7	210227945	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.193000	0.32162	-0.048000	0.13401	0.591000	0.81541	CAG		0.393	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		G	212161322	C	G	212161322	3	3	343	1	0	0	0	0	1	0	0	0	7785	912	32	4	2037	4	INTS7	1	212161322	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	1400037	212161322	37089299	9	19758											
TMEM206	55248	hgsc.bcm.edu	37	1	212548582	212548582	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:212548582A>G	ENST00000261455.4	-	7	981	c.844T>C	c.(844-846)Ttt>Ctt	p.F282L	TMEM206_ENST00000535273.1_Missense_Mutation_p.F343L	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	282						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		AAGACCACAAAAAACAATTGA	0.358																																																0													83	82	82					1																	212548582		2203	4300	6503	SO:0001583	missense	55248			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 75"	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.844T>C	1.37:g.212548582A>G	ENSP00000261455:p.Phe282Leu		B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	A	36	5.605310	0.96626	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.987	T	0.70927	-0.4739	9	0.87932	D	0	-23.5978	16.8222	0.85835	1.0:0.0:0.0:0.0	.	343;282	B7Z4D6;Q9H813	.;TM206_HUMAN	L	282;343	.	ENSP00000261455:F282L	F	-	1	0	TMEM206	210615205	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.931000	0.87625	2.371000	0.80710	0.533000	0.62120	TTT		0.358	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		G	212548582	A	G	212548582	3	3	343	1	0	0	0	0	1	0	0	0	16136	14	1	3	216	3	TMEM206	1	212548582	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10	387260	212548582	36702039	10	19759											
SPATA17	128153	hgsc.bcm.edu;ucsc.edu	37	1	217955528	217955528	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:217955528G>A	ENST00000366933.4	+	8	791	c.736G>A	c.(736-738)Gat>Aat	p.D246N	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	246						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GCCCTTCCGAGATATCACCGA	0.453																																																0													73	76	75					1																	217955528		2203	4300	6503	SO:0001583	missense	128153			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.736G>A	1.37:g.217955528G>A	ENSP00000355900:p.Asp246Asn		A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753496	0.49362	.	.	ENSG00000162814	ENST00000366933	T	0.46451	0.87	4.73	1.62	0.23740	.	0.537282	0.19584	N	0.110782	T	0.42720	0.1215	M	0.76838	2.35	0.09310	N	1	B	0.19706	0.038	B	0.20767	0.031	T	0.41893	-0.9483	10	0.56958	D	0.05	-0.8762	9.7037	0.40203	0.0751:0.3186:0.6063:0.0	.	246	Q96L03	SPT17_HUMAN	N	246	ENSP00000355900:D246N	ENSP00000355900:D246N	D	+	1	0	SPATA17	216022151	0.721000	0.28007	0.011000	0.14972	0.374000	0.29953	1.423000	0.34837	0.098000	0.17522	0.650000	0.86243	GAT		0.453	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		A	217955528	G	A	217955528	3	1	343	1	0	0	0	0	1	0	0	0	15007	942	33	2	766	2	SPATA17	1	217955528	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	5406946	217955528	31295093	11	19760											
RYR2	6262	hgsc.bcm.edu;ucsc.edu	37	1	237801753	237801753	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr1:237801753A>G	ENST00000366574.2	+	45	7206	c.6889A>G	c.(6889-6891)Aga>Gga	p.R2297G	RYR2_ENST00000360064.6_Missense_Mutation_p.R2295G|RYR2_ENST00000542537.1_Missense_Mutation_p.R2281G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2297	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAAGGAGAGAGATATCTTGA	0.408																																																0													315	305	308					1																	237801753		1878	4123	6001	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6889A>G	1.37:g.237801753A>G	ENSP00000355533:p.Arg2297Gly		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.531572	0.64972	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96300	-3.97;-3.97;-3.97	5.31	1.25	0.21368	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000008	D	0.97754	0.9263	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97445	1.0024	10	0.87932	D	0	-14.463	16.7774	0.85555	0.3728:0.6271:0.0:0.0	.	2297	Q92736	RYR2_HUMAN	G	2297;2295;2281	ENSP00000355533:R2297G;ENSP00000353174:R2295G;ENSP00000443798:R2281G	ENSP00000353174:R2295G	R	+	1	2	RYR2	235868376	0.035000	0.19736	0.998000	0.56505	0.934000	0.57294	-0.088000	0.11198	-0.007000	0.14345	0.459000	0.35465	AGA		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237801753	A	G	237801753	3	3	343	1	0	0	0	0	1	0	0	0	13775	296	11	3	7067	3	RYR2	1	237801753	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10	19846225	237801753	11448868	12	19761											
LCT	3938	hgsc.bcm.edu;ucsc.edu	37	2	136566271	136566271	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr2:136566271G>C	ENST00000264162.2	-	8	3656	c.3646C>G	c.(3646-3648)Cac>Gac	p.H1216D	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1216	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGTGTTTTGTGCTGCACGATT	0.582																																																0													201	172	182					2																	136566271		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3646C>G	2.37:g.136566271G>C	ENSP00000264162:p.His1216Asp		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	g	1.315	-0.600970	0.03744	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.30714	1.52	5.76	0.981	0.19756	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.327450	0.39834	N	0.001251	T	0.30792	0.0776	N	0.13198	0.31	0.09310	N	1	P	0.38440	0.631	P	0.56700	0.804	T	0.35400	-0.9790	10	0.23302	T	0.38	-16.7319	12.0319	0.53401	0.3694:0.0:0.6306:0.0	.	1216	P09848	LPH_HUMAN	D	1216;648	ENSP00000264162:H1216D	ENSP00000264162:H1216D	H	-	1	0	LCT	136282741	0.507000	0.26146	0.001000	0.08648	0.051000	0.14879	1.406000	0.34646	-0.097000	0.12307	-2.393000	0.00227	CAC		0.582	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		C	136566271	G	C	136566271	3	2	343	1	0	0	0	0	1	0	0	0	8695	1319	46	4	2177	4	LCT	2	136566271	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10		136566271	106633102	13	19762											
TTLL4	9654	hgsc.bcm.edu;ucsc.edu	37	2	219618334	219618334	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr2:219618334A>G	ENST00000392102.1	+	19	3626	c.3286A>G	c.(3286-3288)Atc>Gtc	p.I1096V	TTLL4_ENST00000457313.1_Missense_Mutation_p.I931V|TTLL4_ENST00000258398.4_Missense_Mutation_p.I1096V|TTLL4_ENST00000442769.1_Missense_Mutation_p.I1032V	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1096					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ACTTCTGACTATCTCAAAGGA	0.537																																					GBM(172;1818 2053 15407 20943 49753)											0													210	201	204					2																	219618334		2203	4300	6503	SO:0001583	missense	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3286A>G	2.37:g.219618334A>G	ENSP00000375951:p.Ile1096Val		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.004|0.004	-2.379883|-2.379883	0.00205|0.00205	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398|ENST00000436668	T;T;T;T|.	0.03635|.	4.07;4.32;3.86;4.32|.	5.27|5.27	-3.48|-3.48	0.04739|0.04739	.|.	2.556040|.	0.01013|.	N|.	0.003860|.	T|T	0.12347|0.12347	0.0300|0.0300	N|N	0.03115|0.03115	-0.41|-0.41	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.28650|0.28650	-1.0037|-1.0037	10|5	0.02654|.	T|.	1|.	.|.	7.0815|7.0815	0.25234|0.25234	0.5093:0.2387:0.252:0.0|0.5093:0.2387:0.252:0.0	.|.	931;1032;1096|.	E9PH58;E7EX20;Q14679|.	.;.;TTLL4_HUMAN|.	V|C	931;1096;1032;1096|198	ENSP00000393332:I931V;ENSP00000375951:I1096V;ENSP00000396555:I1032V;ENSP00000258398:I1096V|.	ENSP00000258398:I1096V|.	I|Y	+|+	1|2	0|0	TTLL4|TTLL4	219326578|219326578	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.024000|0.024000	0.10985|0.10985	-0.461000|-0.461000	0.06712|0.06712	-1.053000|-1.053000	0.03218|0.03218	-0.132000|-0.132000	0.14878|0.14878	ATC|TAT		0.537	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		G	219618334	A	G	219618334	3	3	343	1	0	0	0	0	1	0	0	0	16734	449	16	3	3352	3	TTLL4	2	219618334	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10	83052063	219618334	23581039	14	19763											
STK11IP	114790	hgsc.bcm.edu	37	2	220478482	220478482	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr2:220478482C>T	ENST00000456909.1	+	21	2636	c.2546C>T	c.(2545-2547)cCa>cTa	p.P849L	STK11IP_ENST00000295641.10_Missense_Mutation_p.P860L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	860					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTGAGCCTCCAGCTAGCTGG	0.632																																																0													51	58	55					2																	220478482		2153	4265	6418	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2546C>T	2.37:g.220478482C>T	ENSP00000389383:p.Pro849Leu		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37		.	.	.	.	.	.	.	.	.	.	c	15.07	2.725227	0.48833	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.07800	3.16;3.16	4.62	3.75	0.43078	.	0.132789	0.52532	N	0.000071	T	0.12305	0.0299	M	0.72894	2.215	0.58432	D	0.999993	B	0.20887	0.049	B	0.25140	0.058	T	0.02758	-1.1114	10	0.87932	D	0	-5.8931	9.9794	0.41804	0.0:0.905:0.0:0.095	.	860	Q8N1F8	S11IP_HUMAN	L	849;860	ENSP00000389383:P849L;ENSP00000295641:P860L	ENSP00000295641:P860L	P	+	2	0	STK11IP	220186726	0.970000	0.33590	0.876000	0.34364	0.749000	0.42624	2.416000	0.44644	1.184000	0.42957	-0.260000	0.10688	CCA		0.632	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		T	220478482	C	T	220478482	3	4	343	1	0	0	0	0	1	0	0	0	15293	594	21	2	2661	2	STK11IP	2	220478482	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	860148	220478482	22720891	15	19764											
RAB5A	5868	hgsc.bcm.edu;ucsc.edu	37	3	20017171	20017171	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr3:20017171G>A	ENST00000273047.4	+	3	778	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	RAB5A_ENST00000422242.1_Missense_Mutation_p.R67Q	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	81				R -> G (in Ref. 1; AAA60245). {ECO:0000305}.	blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)|urinary_tract(1)	2						GGTCAAGAACGATACCATAGC	0.388																																																0													126	112	117					3																	20017171		2203	4300	6503	SO:0001583	missense	5868				CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"RAB, member RAS oncogene"	9783	protein-coding gene	gene with protein product	"RAS-associated protein RAB5A"	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.242G>A	3.37:g.20017171G>A	ENSP00000273047:p.Arg81Gln		B4DJA5|Q6FI44	Missense_Mutation	SNP	ENST00000273047.4	37	CCDS2633.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633358	0.87660	.	.	ENSG00000144566	ENST00000273047;ENST00000422242	T;T	0.78364	-1.17;-1.17	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80369	0.4610	L	0.58969	1.84	0.80722	D	1	P;D	0.58620	0.829;0.983	B;P	0.48738	0.213;0.588	T	0.80315	-0.1434	9	.	.	.	-8.7935	18.85	0.92224	0.0:0.0:1.0:0.0	.	67;81	B4DJA5;P20339	.;RAB5A_HUMAN	Q	81;67	ENSP00000273047:R81Q;ENSP00000411941:R67Q	.	R	+	2	0	RAB5A	19992175	1.000000	0.71417	0.874000	0.34290	0.998000	0.95712	9.766000	0.98957	2.541000	0.85698	0.563000	0.77884	CGA		0.388	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252137.2	NM_004162		A	20017171	G	A	20017171	3	1	343	1	0	0	0	0	1	0	0	0	12954	1058	37	1	248	1	RAB5A	3	20017171	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10		20017171	178005259	16	19765											
CSRNP1	64651	hgsc.bcm.edu	37	3	39184799	39184799	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr3:39184799T>A	ENST00000273153.5	-	5	1694	c.1517A>T	c.(1516-1518)gAg>gTg	p.E506V	CSRNP1_ENST00000514182.1_Missense_Mutation_p.E506V	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	506					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTGGAGTAACTCAAAGGAGTC	0.562																																																0													56	54	55					3																	39184799		2203	4300	6503	SO:0001583	missense	64651			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1517A>T	3.37:g.39184799T>A	ENSP00000273153:p.Glu506Val		Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952301	0.73787	.	.	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.55234	0.53;0.53	5.05	3.85	0.44370	.	0.175188	0.34777	N	0.003699	T	0.65780	0.2724	L	0.56769	1.78	0.51767	D	0.999935	D	0.76494	0.999	D	0.68039	0.955	T	0.67741	-0.5592	10	0.87932	D	0	-15.1395	12.0862	0.53698	0.0:0.0:0.1441:0.8559	.	506	Q96S65	CSRN1_HUMAN	V	506;506;164	ENSP00000273153:E506V;ENSP00000422532:E506V	ENSP00000273153:E506V	E	-	2	0	CSRNP1	39159803	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.894000	0.69806	0.841000	0.35020	0.533000	0.62120	GAG		0.562	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		A	39184799	T	A	39184799	3	1	343	1	0	0	0	0	1	0	0	0	3965	1551	54	5	256	5	CSRNP1	3	39184799	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10	19167628	39184799	158837631	17	19766											
FYCO1	79443	hgsc.bcm.edu	37	3	46001032	46001032	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr3:46001032T>C	ENST00000296137.2	-	12	3645	c.3440A>G	c.(3439-3441)gAc>gGc	p.D1147G	FYCO1_ENST00000535325.1_Missense_Mutation_p.D1147G|FYCO1_ENST00000438446.1_5'Flank	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1147					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AGCATCCTTGTCCCTGGGACA	0.468																																																0													53	47	49					3																	46001032		2203	4300	6503	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3440A>G	3.37:g.46001032T>C	ENSP00000296137:p.Asp1147Gly		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.781032	0.90282	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.24908	1.83;1.84	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	M	0.64997	1.995	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.47142	-0.9140	10	0.62326	D	0.03	-27.52	12.9017	0.58128	0.0:0.0:0.0:1.0	.	1147;1147	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	G	1147	ENSP00000296137:D1147G;ENSP00000441178:D1147G	ENSP00000296137:D1147G	D	-	2	0	FYCO1	45976036	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.714000	0.84703	1.787000	0.52448	0.533000	0.62120	GAC		0.468	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		C	46001032	T	C	46001032	3	2	343	1	0	0	0	0	1	0	0	0	6127	1667	58	3	1024	3	FYCO1	3	46001032	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10	6816233	46001032	152021398	18	19767											
UBA7	7318	hgsc.bcm.edu	37	3	49850746	49850746	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr3:49850746T>C	ENST00000333486.3	-	3	454	c.296A>G	c.(295-297)aAc>aGc	p.N99S	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	99	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GACAGCTCTGTTGAGCTGAGC	0.587																																																0													75	74	74					3																	49850746		2203	4300	6503	SO:0001583	missense	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.296A>G	3.37:g.49850746T>C	ENSP00000333266:p.Asn99Ser		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192646	0.78902	.	.	ENSG00000182179	ENST00000333486	T	0.65178	-0.14	5.01	3.85	0.44370	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	M	0.92026	3.265	0.54753	D	0.999988	D	0.76494	0.999	D	0.79108	0.992	T	0.83001	-0.0177	10	0.87932	D	0	-16.8319	10.1495	0.42784	0.0:0.0796:0.0:0.9204	.	99	P41226	UBA7_HUMAN	S	99	ENSP00000333266:N99S	ENSP00000333266:N99S	N	-	2	0	UBA7	49825750	1.000000	0.71417	0.714000	0.30535	0.803000	0.45373	3.743000	0.55104	0.863000	0.35553	0.379000	0.24179	AAC		0.587	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		C	49850746	T	C	49850746	3	2	343	1	0	0	0	0	1	0	0	0	16838	1725	60	3	2830	3	UBA7	3	49850746	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10	3849714	49850746	148171684	19	19768											
BAP1	8314	hgsc.bcm.edu	37	3	52440367	52440367	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr3:52440367T>G	ENST00000460680.1	-	9	1156	c.685A>C	c.(685-687)Aac>Cac	p.N229H	BAP1_ENST00000296288.5_Intron	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCCATCAGGTTGAAGCGGATG	0.622			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													96	74	81					3																	52440367		2203	4300	6503	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.685A>C	3.37:g.52440367T>G	ENSP00000417132:p.Asn229His		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037127	0.93630	.	.	ENSG00000163930	ENST00000460680	T	0.50277	0.75	6.04	6.04	0.98038	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.71842	-0.4470	10	0.87932	D	0	-8.6722	16.5838	0.84722	0.0:0.0:0.0:1.0	.	229	Q92560	BAP1_HUMAN	H	229	ENSP00000417132:N229H	ENSP00000417132:N229H	N	-	1	0	BAP1	52415407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	2.319000	0.78375	0.528000	0.53228	AAC		0.622	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			G	52440367	T	G	52440367	3	3	343	1	0	0	0	0	1	0	0	0	1311	1812	63	5	1540	5	BAP1	3	52440367	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10	2589621	52440367	145582063	20	19769											
FAM3D	131177	hgsc.bcm.edu;ucsc.edu	37	3	58620032	58620032	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr3:58620032C>T	ENST00000358781.2	-	10	959	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	217					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GGCATGCAGCCCTCCATCTCC	0.552																																																0													83	84	84					3																	58620032		2203	4300	6503	SO:0001583	missense	131177			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.649G>A	3.37:g.58620032C>T	ENSP00000351632:p.Gly217Ser		Q547G2	Missense_Mutation	SNP	ENST00000358781.2	37	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843187	0.91197	.	.	ENSG00000198643	ENST00000358781	T	0.21932	1.98	5.3	5.3	0.74995	.	0.144121	0.48286	D	0.000184	T	0.55242	0.1908	M	0.89840	3.065	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.63967	-0.6517	10	0.72032	D	0.01	-37.1161	16.8015	0.85615	0.0:1.0:0.0:0.0	.	217	Q96BQ1	FAM3D_HUMAN	S	217	ENSP00000351632:G217S	ENSP00000351632:G217S	G	-	1	0	FAM3D	58595072	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	6.830000	0.75319	2.650000	0.89964	0.655000	0.94253	GGC		0.552	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805		T	58620032	C	T	58620032	3	4	343	1	0	0	0	0	1	0	0	0	5561	623	22	2	29	2	FAM3D	3	58620032	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	6179665	58620032	139402398	21	19770											
VGLL3	389136	hgsc.bcm.edu;ucsc.edu	37	3	87027696	87027696	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr3:87027696C>A	ENST00000398399.2	-	2	746	c.383G>T	c.(382-384)gGg>gTg	p.G128V	VGLL3_ENST00000383698.3_Missense_Mutation_p.G128V	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GGGGGTTAGCCCCATCTTGCT	0.502																																																0													120	115	116					3																	87027696		1906	4135	6041	SO:0001583	missense	389136			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.383G>T	3.37:g.87027696C>A	ENSP00000381436:p.Gly128Val			Missense_Mutation	SNP	ENST00000398399.2	37	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705900	0.68615	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.48201	0.84;0.82	5.28	5.28	0.74379	.	0.218769	0.39475	N	0.001351	T	0.64789	0.2630	M	0.67953	2.075	0.80722	D	1	D	0.69078	0.997	P	0.58520	0.84	T	0.68484	-0.5396	10	0.72032	D	0.01	-10.6469	18.901	0.92443	0.0:1.0:0.0:0.0	.	128	A8MV65	VGLL3_HUMAN	V	128	ENSP00000381436:G128V;ENSP00000373199:G128V	ENSP00000373199:G128V	G	-	2	0	VGLL3	87110386	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.060000	0.71141	2.463000	0.83235	0.561000	0.74099	GGG		0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		A	87027696	C	A	87027696	3	1	343	1	0	0	0	0	1	0	0	0	17165	623	22	4	609	4	VGLL3	3	87027696	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	28407664	87027696	110994734	22	19771											
KIAA2018	205717	hgsc.bcm.edu;ucsc.edu	37	3	113377605	113377605	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr3:113377605T>C	ENST00000478658.1	-	5	2941	c.2924A>G	c.(2923-2925)gAg>gGg	p.E975G	KIAA2018_ENST00000316407.4_Missense_Mutation_p.E975G|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	975						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATTTCTACCTCAGAAACACA	0.403																																																0													125	115	118					3																	113377605		1886	4124	6010	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2924A>G	3.37:g.113377605T>C	ENSP00000420721:p.Glu975Gly		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	1.719	-0.497170	0.04291	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15017	2.46;2.46	5.05	3.81	0.43845	.	0.579572	0.16859	N	0.196582	T	0.10809	0.0264	L	0.27053	0.805	0.09310	N	1	B	0.25105	0.118	B	0.21917	0.037	T	0.13548	-1.0505	10	0.52906	T	0.07	-11.118	5.0029	0.14273	0.0:0.1527:0.2938:0.5535	.	975	Q68DE3	K2018_HUMAN	G	975	ENSP00000320794:E975G;ENSP00000420721:E975G	ENSP00000320794:E975G	E	-	2	0	KIAA2018	114860295	0.969000	0.33509	0.992000	0.48379	0.011000	0.07611	0.909000	0.28558	1.905000	0.55150	0.528000	0.53228	GAG		0.403	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		C	113377605	T	C	113377605	3	2	343	1	0	0	0	0	1	0	0	0	8270	1551	54	3	3817	3	KIAA2018	3	113377605	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10	26349909	113377605	84644825	23	19772											
ZBTB38	253461	hgsc.bcm.edu;ucsc.edu	37	3	141163202	141163202	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr3:141163202G>T	ENST00000514251.1	+	4	2251	c.1972G>T	c.(1972-1974)Gag>Tag	p.E658*	ZBTB38_ENST00000321464.5_Nonsense_Mutation_p.E659*|ZBTB38_ENST00000441582.2_Nonsense_Mutation_p.E658*					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATGGGGAGAGGAGGCATTGAA	0.468																																																0													97	95	96					3																	141163202		1908	4136	6044	SO:0001587	stop_gained	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1972G>T	3.37:g.141163202G>T	ENSP00000426387:p.Glu658*			Nonsense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	35	5.593986	0.96602	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	.	.	.	5.55	1.44	0.22558	.	0.776380	0.11451	N	0.562810	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.7629	6.5636	0.22499	0.2114:0.2451:0.5435:0.0	.	.	.	.	X	658;658;658;659	.	.	E	+	1	0	ZBTB38	142645892	0.854000	0.29725	0.900000	0.35374	0.929000	0.56500	2.620000	0.46410	0.254000	0.21573	0.650000	0.86243	GAG		0.468	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			T	141163202	G	T	141163202	4	4	343	1	0	0	0	0	0	1	0	0	17544	1175	41	4	1974	4	ZBTB38	3	141163202	Nonsense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	27785597	141163202	56859228	24	19773											
PIK3CA	5290	hgsc.bcm.edu;ucsc.edu	37	3	178916854	178916854	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr3:178916854G>A	ENST00000263967.3	+	2	398	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	81	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E81K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGAAAGGGAAGAATTTTTTGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	8	Substitution - Missense(8)	endometrium(4)|large_intestine(3)|breast(1)											107	101	103					3																	178916854		1820	4081	5901	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.241G>A	3.37:g.178916854G>A	ENSP00000263967:p.Glu81Lys		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983574	0.93044	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.77620	-1.11;-1.11	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89493	0.3758	9	.	.	.	-5.0909	19.2635	0.93977	0.0:0.0:1.0:0.0	.	81	P42336	PK3CA_HUMAN	K	81	ENSP00000263967:E81K;ENSP00000417479:E81K	.	E	+	1	0	PIK3CA	180399548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	GAA		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178916854	G	A	178916854	3	1	343	1	0	0	0	0	1	0	0	0	11915	943	33	2	243	2	PIK3CA	3	178916854	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	37753652	178916854	19105576	25	19774											
KLHL24	54800	hgsc.bcm.edu;ucsc.edu	37	3	183368567	183368567	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr3:183368567G>C	ENST00000454652.2	+	4	809	c.423G>C	c.(421-423)gaG>gaC	p.E141D	KLHL24_ENST00000242810.6_Missense_Mutation_p.E141D|KLHL24_ENST00000476808.1_Missense_Mutation_p.E141D	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	141						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ATCTCTTTGAGACATCAAGCC	0.398																																																0													179	160	167					3																	183368567		2203	4300	6503	SO:0001583	missense	54800				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.423G>C	3.37:g.183368567G>C	ENSP00000395012:p.Glu141Asp		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410853	0.42817	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.68624	-0.34;-0.34;-0.34	5.44	-1.66	0.08265	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	L	0.58583	1.82	0.50467	D	0.999874	D;P	0.67145	0.996;0.559	D;B	0.72625	0.978;0.414	T	0.74300	-0.3710	10	0.72032	D	0.01	.	12.2474	0.54578	0.563:0.0:0.437:0.0	.	141;141	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	D	141	ENSP00000242810:E141D;ENSP00000395012:E141D;ENSP00000419010:E141D	ENSP00000242810:E141D	E	+	3	2	KLHL24	184851261	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	0.700000	0.25601	-0.165000	0.10908	-0.384000	0.06662	GAG		0.398	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		C	183368567	G	C	183368567	3	2	343	1	0	0	0	0	1	0	0	0	8381	933	33	4	425	4	KLHL24	3	183368567	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	4451713	183368567	14653863	26	19775											
CWH43	80157	hgsc.bcm.edu;ucsc.edu	37	4	49034691	49034691	+	Silent	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr4:49034691C>T	ENST00000226432.4	+	12	1800	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	CWH43_ENST00000513409.1_Silent_p.G512G	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	539					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACATTTCGGGCAAGCTGGTGG	0.453																																																0													198	171	180					4																	49034691		2203	4300	6503	SO:0001819	synonymous_variant	80157				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1617C>T	4.37:g.49034691C>T			B2RPD7	Silent	SNP	ENST00000226432.4	37	CCDS3486.1																																																																																				0.453	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		T	49034691	C	T	49034691	2	4	343	1	0	0	0	0	0	0	0	1	4075	697	25	2		2	CWH43	4	49034691	Silent	SNP	C	TCGA-BP-4352-01A-01D-1366-10		49034691	142119585	27	19776											
BDP1	55814	hgsc.bcm.edu;ucsc.edu	37	5	70806004	70806004	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr5:70806004A>G	ENST00000358731.4	+	17	3348	c.3085A>G	c.(3085-3087)Att>Gtt	p.I1029V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1029	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACCAGAGGTGATTGATGCTAC	0.463																																																0													74	75	75					5																	70806004		1848	4090	5938	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3085A>G	5.37:g.70806004A>G	ENSP00000351575:p.Ile1029Val		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	a	4.020	0.001130	0.07819	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.16073	2.37	3.49	-0.314	0.12750	.	2.027030	0.03609	U	0.234518	T	0.08088	0.0202	N	0.12182	0.205	0.09310	N	0.999999	B;B;B	0.14012	0.003;0.009;0.009	B;B;B	0.11329	0.003;0.006;0.002	T	0.24977	-1.0145	10	0.10377	T	0.69	.	2.3315	0.04237	0.5163:0.0:0.2502:0.2335	.	1029;1029;1029	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	V	1029;609	ENSP00000351575:I1029V	ENSP00000351575:I1029V	I	+	1	0	BDP1	70841760	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.139000	0.10358	-0.058000	0.13177	0.260000	0.18958	ATT		0.463	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		G	70806004	A	G	70806004	3	3	343	1	0	0	0	0	1	0	0	0	1395	333	12	3	3151	3	BDP1	5	70806004	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10		70806004	110109256	28	19777											
HIST1H4H	8365	hgsc.bcm.edu;ucsc.edu	37	6	26285450	26285450	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr6:26285450C>T	ENST00000377727.1	-	1	287	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	HIST1H4H_ENST00000289352.1_Missense_Mutation_p.R93Q	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	93					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						GCGTCCCTGTCGCTTCAGCGC	0.532										HNSCC(76;0.23)																																						0													152	128	136					6																	26285450		2203	4300	6503	SO:0001583	missense	8365			X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"Histones / Replication-dependent"	4788	protein-coding gene	gene with protein product		602828	"H4 histone family, member H", "histone 1, H4h"	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.278G>A	6.37:g.26285450C>T	ENSP00000366956:p.Arg93Gln		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377727.1	37	CCDS4604.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.003057	0.74932	.	.	ENSG00000158406	ENST00000289352;ENST00000377727	T;T	0.68765	-0.35;-0.35	4.13	4.13	0.48395	.	0.000000	0.48767	U	0.000169	T	0.66925	0.2839	.	.	.	0.32374	N	0.555496	.	.	.	.	.	.	T	0.70880	-0.4752	7	0.72032	D	0.01	.	14.2671	0.66126	0.0:1.0:0.0:0.0	.	.	.	.	Q	93	ENSP00000289352:R93Q;ENSP00000366956:R93Q	ENSP00000289352:R93Q	R	-	2	0	HIST1H4H	26393429	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	7.702000	0.84576	2.034000	0.60081	0.313000	0.20887	CGA		0.532	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543		T	26285450	C	T	26285450	3	4	343	1	0	0	0	0	1	0	0	0	7174	884	31	1	37	1	HIST1H4H	6	26285450	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10		26285450	144829617	29	19778											
ZNF323	64288	hgsc.bcm.edu;ucsc.edu	37	6	28293947	28293947	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr6:28293947G>A	ENST00000414429.1	-	8	2120	c.1217C>T	c.(1216-1218)cCa>cTa	p.P406L	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.P406L|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.P247L|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.P406L|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.P406L			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	406					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCACCCTTATGGTCTCTCTCC	0.428																																																0													303	318	313					6																	28293947		2203	4300	6503	SO:0001583	missense	0				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.1217C>T	6.37:g.28293947G>A	ENSP00000390076:p.Pro406Leu		Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	g	5.859	0.342759	0.11069	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279	T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36	2.46	-4.93	0.03066	Zinc finger, C2H2 (1);	.	.	.	.	T	0.02304	0.0071	M	0.63208	1.945	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17806	-1.0357	9	0.87932	D	0	.	1.9896	0.03443	0.4726:0.2821:0.1066:0.1387	.	406	Q96LW9	ZN323_HUMAN	L	406;406;406;247;406	ENSP00000380050:P406L;ENSP00000413705:P406L;ENSP00000390076:P406L;ENSP00000402937:P247L;ENSP00000345339:P406L	ENSP00000345339:P406L	P	-	2	0	ZNF323	28401926	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.006000	0.13152	-1.579000	0.01646	-2.148000	0.00335	CCA		0.428	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		A	28293947	G	A	28293947	3	1	343	1	0	0	0	0	1	0	0	0	17848	1348	47	2	7	2	ZNF323	6	28293947	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	2008497	28293947	142821120	30	19779											
GCM1	8521	hgsc.bcm.edu	37	6	52995691	52995691	+	Missense_Mutation	SNP	C	C	G	rs76623467	byFrequency	TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr6:52995691C>G	ENST00000259803.7	-	5	691	c.480G>C	c.(478-480)aaG>aaC	p.K160N		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	160					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CAGCTTCTAACTTGGTTTCTG	0.443																																																0													399	308	339					6																	52995691		2203	4300	6503	SO:0001583	missense	8521			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.480G>C	6.37:g.52995691C>G	ENSP00000259803:p.Lys160Asn		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145372	0.57044	.	.	ENSG00000137270	ENST00000259803	T	0.80123	-1.34	5.94	2.8	0.32819	.	0.000000	0.85682	D	0.000000	D	0.82797	0.5115	M	0.73430	2.235	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	T	0.82756	-0.0300	10	0.54805	T	0.06	0.014	6.4952	0.22138	0.0:0.404:0.0:0.596	.	160	Q9NP62	GCM1_HUMAN	N	160	ENSP00000259803:K160N	ENSP00000259803:K160N	K	-	3	2	GCM1	53103650	0.083000	0.21467	0.883000	0.34634	0.513000	0.34164	0.311000	0.19380	1.310000	0.45006	0.650000	0.86243	AAG		0.443	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			G	52995691	C	G	52995691	3	3	343	1	0	0	0	0	1	0	0	0	6299	564	20	4	838	4	GCM1	6	52995691	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	24701744	52995691	118119376	31	19780											
FAM46A	55603	hgsc.bcm.edu;ucsc.edu	37	6	82459989	82459989	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr6:82459989A>G	ENST00000320172.6	-	3	1066	c.752T>C	c.(751-753)aTg>aCg	p.M251T	FAM46A_ENST00000369756.3_Missense_Mutation_p.M332T|FAM46A_ENST00000369754.3_Missense_Mutation_p.M270T	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	251					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TGTCTCAGTCATTGGGTTCTC	0.428																																																0													66	71	69					6																	82459989		2203	4300	6503	SO:0001583	missense	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.752T>C	6.37:g.82459989A>G	ENSP00000318298:p.Met251Thr		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	37	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.639344	0.29157	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.25414	1.8;1.8;1.8	5.95	5.95	0.96441	Domain of unknown function DUF1693 (1);	0.071188	0.85682	N	0.000000	T	0.25121	0.0610	M	0.86953	2.85	0.80722	D	1	P;P	0.46512	0.611;0.879	B;B	0.37047	0.237;0.24	T	0.38950	-0.9637	10	0.72032	D	0.01	-24.333	16.4237	0.83790	1.0:0.0:0.0:0.0	.	251;270	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	T	270;251;332	ENSP00000358769:M270T;ENSP00000318298:M251T;ENSP00000358771:M332T	ENSP00000318298:M251T	M	-	2	0	FAM46A	82516708	1.000000	0.71417	0.999000	0.59377	0.006000	0.05464	9.339000	0.96797	2.279000	0.76181	0.533000	0.62120	ATG		0.428	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			G	82459989	A	G	82459989	3	3	343	1	0	0	0	0	1	0	0	0	5567	217	8	3	580	3	FAM46A	6	82459989	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10	29464298	82459989	88655078	32	19781											
PREP	5550	hgsc.bcm.edu	37	6	105800846	105800846	+	Splice_Site	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr6:105800846C>T	ENST00000369110.3	-	7	1016		c.e7+1			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AAATAACTCACCCGCGATGCC	0.403																																																0													150	153	152					6																	105800846		2203	4300	6503	SO:0001630	splice_region_variant	5550				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.823+1G>A	6.37:g.105800846C>T			Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056681	0.76074	.	.	ENSG00000085377	ENST00000369110	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6602	0.91469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREP	105907539	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	5.826000	0.69293	2.775000	0.95449	0.655000	0.94253	.		0.403	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Intron	T	105800846	C	T	105800846	5	4	343	1	0	0	0	0	0	0	1	0	12479	521	18	2	1344	2	PREP	6	105800846	Splice_Site	SNP	C	TCGA-BP-4352-01A-01D-1366-10	23340857	105800846	65314221	33	19782											
MICAL1	64780	hgsc.bcm.edu;ucsc.edu	37	6	109771217	109771217	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr6:109771217C>A	ENST00000358807.3	-	9	1574	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	MICAL1_ENST00000358577.3_Missense_Mutation_p.K335N|MICAL1_ENST00000368952.4_Missense_Mutation_p.K440N|MICAL1_ENST00000483856.1_5'Flank	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	421	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGCCCACCGCTTCACCATCC	0.612																																																0													189	186	187					6																	109771217		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1263G>T	6.37:g.109771217C>A	ENSP00000351664:p.Lys421Asn		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063464	0.55432	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577	T;T;T	0.65916	-0.18;-0.18;-0.18	4.57	3.71	0.42584	Calponin homology domain (1);	0.116797	0.56097	D	0.000028	T	0.61311	0.2337	L	0.54323	1.7	0.35443	D	0.795023	P;D;D	0.89917	0.951;0.999;1.0	P;D;D	0.73380	0.735;0.961;0.98	T	0.66594	-0.5884	10	0.62326	D	0.03	.	7.1925	0.25834	0.0:0.8014:0.0:0.1986	.	440;335;421	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	N	421;440;335	ENSP00000351664:K421N;ENSP00000357948:K440N;ENSP00000351385:K335N	ENSP00000351385:K335N	K	-	3	2	MICAL1	109877910	0.999000	0.42202	1.000000	0.80357	0.866000	0.49608	0.618000	0.24373	1.284000	0.44531	-0.145000	0.13849	AAG		0.612	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		A	109771217	C	A	109771217	3	1	343	1	0	0	0	0	1	0	0	0	9571	796	28	4	2008	4	MICAL1	6	109771217	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	3970371	109771217	61343850	34	19783											
PLG	5340	hgsc.bcm.edu;ucsc.edu	37	6	161135849	161135849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr6:161135849G>T	ENST00000308192.9	+	6	634	c.571G>T	c.(571-573)Gaa>Taa	p.E191*		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	191	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTGCAGTGGAGAAAACTATGA	0.458																																																0													73	72	72					6																	161135849		2203	4300	6503	SO:0001587	stop_gained	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.571G>T	6.37:g.161135849G>T	ENSP00000308938:p.Glu191*		Q15146|Q5TEH4|Q6PA00	Nonsense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520292	0.96416	.	.	ENSG00000122194	ENST00000308192	.	.	.	5.77	5.77	0.91146	.	0.000000	0.40385	U	0.001103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	.	.	.	X	191	.	ENSP00000308938:E191X	E	+	1	0	PLG	161055839	1.000000	0.71417	0.986000	0.45419	0.333000	0.28666	7.484000	0.81180	2.723000	0.93209	0.655000	0.94253	GAA		0.458	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161135849	G	T	161135849	4	4	343	1	0	0	0	0	0	1	0	0	12088	943	33	4	597	4	PLG	6	161135849	Nonsense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	51364632	161135849	9979218	35	19784											
SDK1	221935	hgsc.bcm.edu;ucsc.edu	37	7	3678698	3678698	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr7:3678698G>C	ENST00000404826.2	+	3	660	c.521G>C	c.(520-522)aGa>aCa	p.R174T	SDK1_ENST00000389531.3_Missense_Mutation_p.R174T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	174	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGCGAAACAGAATGGGAGCA	0.428																																																0													78	68	72					7																	3678698		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.521G>C	7.37:g.3678698G>C	ENSP00000385899:p.Arg174Thr		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820055	0.71028	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56776	0.44;0.44	4.89	4.01	0.46588	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.46145	D	0.000318	T	0.63046	0.2478	L	0.52823	1.66	0.45899	D	0.998748	D	0.76494	0.999	D	0.74674	0.984	T	0.58504	-0.7625	10	0.20519	T	0.43	.	11.5106	0.50490	0.0854:0.0:0.9146:0.0	.	174	Q7Z5N4	SDK1_HUMAN	T	174	ENSP00000385899:R174T;ENSP00000374182:R174T	ENSP00000374182:R174T	R	+	2	0	SDK1	3645224	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	8.665000	0.91144	1.174000	0.42811	0.563000	0.77884	AGA		0.428	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		C	3678698	G	C	3678698	3	2	343	1	0	0	0	0	1	0	0	0	13974	942	33	4	531	4	SDK1	7	3678698	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10		3678698	155459965	36	19785											
TACC1	6867	hgsc.bcm.edu;ucsc.edu	37	8	38704295	38704295	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr8:38704295G>T	ENST00000317827.4	+	12	2686	c.2307G>T	c.(2305-2307)gaG>gaT	p.E769D	TACC1_ENST00000519416.1_Missense_Mutation_p.E573D|TACC1_ENST00000518415.1_Missense_Mutation_p.E695D|TACC1_ENST00000520615.1_Missense_Mutation_p.E574D|TACC1_ENST00000520611.1_Missense_Mutation_p.E206D|RP11-723D22.3_ENST00000459965.2_RNA|TACC1_ENST00000443286.2_Missense_Mutation_p.E756D|TACC1_ENST00000276520.8_Missense_Mutation_p.E359D|TACC1_ENST00000330691.6_Missense_Mutation_p.E343D|TACC1_ENST00000520973.1_Missense_Mutation_p.E545D|TACC1_ENST00000348567.4_Missense_Mutation_p.E331D|TACC1_ENST00000379931.3_Missense_Mutation_p.E781D	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	769	Interaction with CH-TOG.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TCCGCAAAGAGCAGATGAAGG	0.522																																																0													72	69	70					8																	38704295		2203	4300	6503	SO:0001583	missense	6867			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.2307G>T	8.37:g.38704295G>T	ENSP00000321703:p.Glu769Asp		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.129127|4.129127	0.77549|0.77549	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443286;ENST00000518415;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973;ENST00000520611|ENST00000521866;ENST00000518809	T;T;T;T;T;T;T;T;T;T;T|.	0.52983|.	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64|.	5.47|5.47	-0.436|-0.436	0.12275|0.12275	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71039|0.71039	0.3293|0.3293	M|M	0.81802|0.81802	2.56|2.56	0.51767|0.51767	D|D	0.999933|0.999933	D;D;D;D;D;D;D;D|.	0.89917|.	0.991;0.996;1.0;0.999;0.992;0.988;0.996;0.997|.	D;D;D;D;D;P;D;D|.	0.87578|.	0.965;0.983;0.998;0.996;0.993;0.79;0.965;0.996|.	T|T	0.69632|0.69632	-0.5093|-0.5093	10|5	0.72032|.	D|.	0.01|.	-17.2658|-17.2658	10.7211|10.7211	0.46040|0.46040	0.4567:0.0:0.5433:0.0|0.4567:0.0:0.5433:0.0	.|.	545;545;756;781;769;359;573;695|.	E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-6;E7ET87;O75410-7|.	.;.;.;.;TACC1_HUMAN;.;.;.|.	D|I	573;574;756;695;343;331;769;781;359;545;206|526;418	ENSP00000428687:E573D;ENSP00000428450:E574D;ENSP00000393647:E756D;ENSP00000428706:E695D;ENSP00000332794:E343D;ENSP00000327818:E331D;ENSP00000321703:E769D;ENSP00000369263:E781D;ENSP00000276520:E359D;ENSP00000430959:E545D;ENSP00000429418:E206D|.	ENSP00000276520:E359D|.	E|S	+|+	3|2	2|0	TACC1|TACC1	38823452|38823452	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.965000|0.965000	0.64279|0.64279	1.193000|1.193000	0.32162|0.32162	-0.167000|-0.167000	0.10871|0.10871	-1.008000|-1.008000	0.02478|0.02478	GAG|AGC		0.522	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		T	38704295	G	T	38704295	3	4	343	1	0	0	0	0	1	0	0	0	15506	962	34	4	2353	4	TACC1	8	38704295	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10		38704295	107659727	37	19786											
ZNF572	137209	hgsc.bcm.edu;ucsc.edu	37	8	125990031	125990031	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr8:125990031G>T	ENST00000319286.5	+	3	1675	c.1521G>T	c.(1519-1521)tgG>tgT	p.W507C		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTCATGAATGGACTTGGAAAA	0.448										HNSCC(60;0.17)																																						0													75	83	80					8																	125990031		2203	4300	6503	SO:0001583	missense	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1521G>T	8.37:g.125990031G>T	ENSP00000319305:p.Trp507Cys		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425356	0.25639	.	.	ENSG00000180938	ENST00000319286	T	0.08008	3.14	5.0	3.11	0.35812	.	0.555420	0.15456	N	0.261383	T	0.06645	0.0170	N	0.24115	0.695	0.40686	D	0.982351	D	0.54047	0.964	B	0.43754	0.43	T	0.42085	-0.9472	10	0.44086	T	0.13	-0.4662	7.8093	0.29221	0.0867:0.0:0.7528:0.1605	.	507	Q7Z3I7	ZN572_HUMAN	C	507	ENSP00000319305:W507C	ENSP00000319305:W507C	W	+	3	0	ZNF572	126059212	0.001000	0.12720	0.068000	0.19968	0.692000	0.40212	0.485000	0.22324	0.623000	0.30267	0.563000	0.77884	TGG		0.448	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		T	125990031	G	T	125990031	3	4	343	1	0	0	0	0	1	0	0	0	18009	1183	41	4	1527	4	ZNF572	8	125990031	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	87285736	125990031	20373991	38	19787											
OPLAH	26873	hgsc.bcm.edu	37	8	145107992	145107992	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr8:145107992A>C	ENST00000426825.1	-	21	2993	c.2912T>G	c.(2911-2913)tTt>tGt	p.F971C	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	971					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAGGTTCCAAAGGCACGCAA	0.672																																																0													29	33	31					8																	145107992		2143	4242	6385	SO:0001583	missense	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2912T>G	8.37:g.145107992A>C	ENSP00000475943:p.Phe971Cys		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		.	.	.	.	.	.	.	.	.	.	A	7.949	0.744526	0.15710	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	.	.	.	0.48571	D	0.999679	D	0.61697	0.99	P	0.57152	0.814	T	0.79629	-0.1724	7	0.72032	D	0.01	.	12.3241	0.55001	1.0:0.0:0.0:0.0	.	971	O14841	OPLA_HUMAN	C	971	.	ENSP00000412071:F971C	F	-	2	0	OPLAH	145179980	0.994000	0.37717	0.992000	0.48379	0.060000	0.15804	3.460000	0.53028	1.802000	0.52723	0.368000	0.22195	TTT		0.672	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		C	145107992	A	C	145107992	3	2	343	1	0	0	0	0	1	0	0	0	10878	14	1	5	984	5	OPLAH	8	145107992	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10	19117961	145107992	1256030	39	19788											
CDK9	1025	hgsc.bcm.edu	37	9	130548496	130548496	+	Silent	SNP	C	C	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr9:130548496C>G	ENST00000373264.4	+	1	169	c.69C>G	c.(67-69)gcC>gcG	p.A23A	CDK9_ENST00000373265.2_Silent_p.A140A|CDK9_ENST00000480353.1_3'UTR|MIR3960_ENST00000583311.1_RNA	NM_001261.3	NP_001252.1	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	23	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|DNA repair (GO:0006281)|gene expression (GO:0010467)|negative regulation of cell cycle arrest (GO:0071157)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of DNA repair (GO:0006282)|regulation of histone modification (GO:0031056)|replication fork arrest (GO:0043111)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|positive transcription elongation factor complex b (GO:0008024)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA binding (GO:0003677)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			lung(1)	1						AGAAGCTCGCCAAGATCGGCC	0.687																																																0													47	49	48					9																	130548496		2203	4300	6503	SO:0001819	synonymous_variant	1025			L25676	CCDS6879.1	9q34.1	2011-11-08	2007-11-21		ENSG00000136807	ENSG00000136807		"Cyclin-dependent kinases"	1780	protein-coding gene	gene with protein product		603251	"cyclin-dependent kinase 9 (CDC2-related kinase)"	CDC2L4		8170997, 9356449	Standard	NM_001261		Approved	PITALRE, C-2k, TAK	uc004bse.2	P50750	OTTHUMG00000020715	ENST00000373264.4:c.69C>G	9.37:g.130548496C>G			Q5JU24|Q5JU25|Q5U006|Q96TF1	Silent	SNP	ENST00000373264.4	37	CCDS6879.1																																																																																				0.687	CDK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054235.1			G	130548496	C	G	130548496	2	3	343	1	0	0	0	0	0	0	0	1	3153	581	21	4		4	CDK9	9	130548496	Silent	SNP	C	TCGA-BP-4352-01A-01D-1366-10		130548496	10664935	40	19789											
GOLGA2	2801	hgsc.bcm.edu	37	9	131019438	131019438	+	Missense_Mutation	SNP	G	G	A	rs113640242	byFrequency	TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr9:131019438G>A	ENST00000421699.2	-	26	2929	c.2917C>T	c.(2917-2919)Ccc>Tcc	p.P973S	GOLGA2_ENST00000609374.1_Missense_Mutation_p.P961S|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	973					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CGCTCCCGGGGGTTCTGCATC	0.592																																																0													62	69	67					9																	131019438		2203	4300	6503	SO:0001583	missense	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2917C>T	9.37:g.131019438G>A	ENSP00000416097:p.Pro973Ser		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	14.20	2.465614	0.43839	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	T	0.27720	1.65	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	M	0.61703	1.905	0.53005	D	0.999966	P;P	0.47604	0.898;0.723	P;P	0.53649	0.731;0.676	T	0.24870	-1.0148	10	0.12766	T	0.61	.	18.1873	0.89796	0.0:0.0:1.0:0.0	.	973;591	Q08379;Q08379-2	GOGA2_HUMAN;.	S	973;257	ENSP00000416097:P973S	ENSP00000342692:P257S	P	-	1	0	GOLGA2	130059259	1.000000	0.71417	0.483000	0.27378	0.094000	0.18550	4.640000	0.61368	2.275000	0.75901	0.460000	0.39030	CCC		0.592	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		A	131019438	G	A	131019438	3	1	343	1	0	0	0	0	1	0	0	0	6554	1232	43	2	95	2	GOLGA2	9	131019438	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	470942	131019438	10193993	41	19790											
TTF1	7270	hgsc.bcm.edu	37	9	135277682	135277682	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr9:135277682G>A	ENST00000334270.2	-	2	566	c.527C>T	c.(526-528)gCa>gTa	p.A176V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	176	N-terminal region (NRD). {ECO:0000250}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A176V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTCCCAGGATGCAGCTTTCCT	0.493																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											48	45	46					9																	135277682		2203	4300	6503	SO:0001583	missense	7270			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.527C>T	9.37:g.135277682G>A	ENSP00000333920:p.Ala176Val		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718612	0.30503	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11495	2.77	4.85	1.39	0.22231	.	.	.	.	.	T	0.08582	0.0213	L	0.39898	1.24	0.09310	N	1	B	0.18013	0.025	B	0.14578	0.011	T	0.31364	-0.9946	9	0.41790	T	0.15	.	5.1258	0.14884	0.1022:0.0:0.4577:0.4401	.	176	Q15361	TTF1_HUMAN	V	176	ENSP00000333920:A176V	ENSP00000245588:A176V	A	-	2	0	TTF1	134267503	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.130000	0.10498	0.558000	0.29135	-0.136000	0.14681	GCA		0.493	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		A	135277682	G	A	135277682	3	1	343	1	0	0	0	0	1	0	0	0	16723	1319	46	2	2230	2	TTF1	9	135277682	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	4258244	135277682	5935749	42	19791											
PITRM1	10531	hgsc.bcm.edu	37	10	3187802	3187802	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr10:3187802G>T	ENST00000224949.4	-	21	2477	c.2443C>A	c.(2443-2445)Cca>Aca	p.P815T	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.P816T|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.P373T|PITRM1_ENST00000451104.2_Missense_Mutation_p.P717T|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	815					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACCGTGTGTGGGCGCACAGGC	0.557																																																0													46	49	48					10																	3187802		1832	3833	5665	SO:0001583	missense	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2443C>A	10.37:g.3187802G>T	ENSP00000224949:p.Pro815Thr		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.210|6.210	0.406982|0.406982	0.11754|0.11754	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000451454|ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000424714	.|T;T;T;T;T	.|0.60171	.|3.78;3.78;3.15;3.65;0.21	5.02|5.02	4.11|4.11	0.48088|0.48088	.|Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.160973|0.160973	0.56097|0.56097	D|D	0.000031|0.000031	T|T	0.51584|0.51584	0.1683|0.1683	L|L	0.43923|0.43923	1.385|1.385	0.43924|0.43924	D|D	0.996575|0.996575	.|B;B;B;B;B	.|0.28470	.|0.02;0.213;0.014;0.014;0.014	.|B;B;B;B;B	.|0.33960	.|0.003;0.173;0.017;0.017;0.017	T|T	0.47484|0.47484	-0.9114|-0.9114	6|10	.|0.30078	.|T	.|0.28	-21.3369|-21.3369	13.8938|13.8938	0.63757|0.63757	0.0747:0.0:0.9253:0.0|0.0747:0.0:0.9253:0.0	.|.	.|808;717;816;815;808	.|E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.|.;.;.;PREP_HUMAN;.	H|T	148|815;808;816;373;717;34	.|ENSP00000224949:P815T;ENSP00000370377:P816T;ENSP00000370382:P373T;ENSP00000401201:P717T;ENSP00000402072:P34T	.|ENSP00000224949:P815T	P|P	-|-	2|1	0|0	PITRM1|PITRM1	3177802|3177802	1.000000|1.000000	0.71417|0.71417	0.015000|0.015000	0.15790|0.15790	0.006000|0.006000	0.05464|0.05464	3.658000|3.658000	0.54482|0.54482	1.238000|1.238000	0.43771|0.43771	0.462000|0.462000	0.41574|0.41574	CCC|CCA		0.557	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			T	3187802	G	T	3187802	3	4	343	1	0	0	0	0	1	0	0	0	11955	1232	43	4	698	4	PITRM1	10	3187802	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10		3187802	132346945	43	19792											
ITGA8	8516	hgsc.bcm.edu;ucsc.edu	37	10	15714684	15714684	+	Silent	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr10:15714684C>T	ENST00000378076.3	-	7	1094	c.741G>A	c.(739-741)agG>agA	p.R247R		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	247					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTGCCAGTTTCCTGAGGATAT	0.403																																																0													134	128	130					10																	15714684		2203	4300	6503	SO:0001819	synonymous_variant	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.741G>A	10.37:g.15714684C>T			B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	CCDS31155.1																																																																																				0.403	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		T	15714684	C	T	15714684	2	4	343	1	0	0	0	0	0	0	0	1	7884	854	30	2		2	ITGA8	10	15714684	Silent	SNP	C	TCGA-BP-4352-01A-01D-1366-10	12526882	15714684	119820063	44	19793											
FAM21A	387680	hgsc.bcm.edu	37	10	51863872	51863872	+	Missense_Mutation	SNP	T	T	C	rs199954057		TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr10:51863872T>C	ENST00000282633.5	+	18	1751	c.1706T>C	c.(1705-1707)tTg>tCg	p.L569S	FAM21A_ENST00000314664.7_Missense_Mutation_p.L569S|FAM21A_ENST00000351071.6_Missense_Mutation_p.L569S|FAM21A_ENST00000399339.2_Missense_Mutation_p.L481S	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	569					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						CTCCCCACGTTGGTTTCCCTG	0.388																																																0													113	96	101					10																	51863872		1801	3701	5502	SO:0001583	missense	387680			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"family with sequence similarity 21, member B"	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.1706T>C	10.37:g.51863872T>C	ENSP00000282633:p.Leu569Ser		A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.476318	0.00011	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633;ENST00000399339	.	.	.	3.2	2.29	0.28610	.	0.309608	0.27886	N	0.017458	T	0.04861	0.0131	N	0.00075	-2.25	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.42430	-0.9452	9	0.02654	T	1	-2.7636	8.7263	0.34471	0.0:0.8651:0.0:0.1349	.	569;569;481;569;463	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2;Q5T1D7	.;.;.;FA21A_HUMAN;.	S	569;569;463;569;481	.	ENSP00000282633:L569S	L	+	2	0	FAM21A	51533878	.	.	0.019000	0.16419	0.016000	0.09150	.	.	0.058000	0.16222	-2.800000	0.00114	TTG		0.388	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		C	51863872	T	C	51863872	3	2	343	1	0	0	0	0	1	0	0	0	5542	1821	63	3	1776	3	FAM21A	10	51863872	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10	36149188	51863872	83670875	45	19794											
SGPL1	8879	hgsc.bcm.edu;ucsc.edu	37	10	72610956	72610956	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr10:72610956A>G	ENST00000373202.3	+	4	450	c.250A>G	c.(250-252)Att>Gtt	p.I84V		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	84					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GATGCCCATTATTGGTCGTAA	0.323																																					Colon(151;1054 2458 6676 40971)											0													190	179	183					10																	72610956		2203	4300	6503	SO:0001583	missense	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.250A>G	10.37:g.72610956A>G	ENSP00000362298:p.Ile84Val		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.771228	0.00645	.	.	ENSG00000166224	ENST00000373202;ENST00000299297	T;T	0.38887	1.13;1.11	5.41	-0.919	0.10478	Pyridoxal phosphate-dependent transferase, major domain (1);	0.432276	0.28026	N	0.016893	T	0.13970	0.0338	N	0.08118	0	0.34320	D	0.686496	B	0.02656	0.0	B	0.06405	0.002	T	0.37454	-0.9705	10	0.02654	T	1	-1.8829	4.5235	0.11971	0.5416:0.0:0.3182:0.1402	.	84	O95470	SGPL1_HUMAN	V	84;67	ENSP00000362298:I84V;ENSP00000299297:I67V	ENSP00000299297:I67V	I	+	1	0	SGPL1	72280962	0.099000	0.21834	0.004000	0.12327	0.000000	0.00434	-0.104000	0.10923	-0.108000	0.12066	-1.155000	0.01812	ATT		0.323	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		G	72610956	A	G	72610956	3	3	343	1	0	0	0	0	1	0	0	0	14224	449	16	3	260	3	SGPL1	10	72610956	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10	20747084	72610956	62923791	46	19795											
MYST4	23522	hgsc.bcm.edu;ucsc.edu	37	10	76788380	76788380	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr10:76788380G>C	ENST00000287239.4	+	18	4287	c.3798G>C	c.(3796-3798)aaG>aaC	p.K1266N	KAT6B_ENST00000372714.1_Missense_Mutation_p.K974N|KAT6B_ENST00000372711.1_Missense_Mutation_p.K1083N|KAT6B_ENST00000372725.1_Missense_Mutation_p.K974N|KAT6B_ENST00000372724.1_Missense_Mutation_p.K974N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1266					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AAGAGAGGAAGACCGGATTTA	0.463																																																0													87	83	84					10																	76788380		2203	4300	6503	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3798G>C	10.37:g.76788380G>C	ENSP00000287239:p.Lys1266Asn		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629365	0.46944	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.82167	-1.54;-1.54;-1.58;-1.54;-1.55	5.05	4.15	0.48705	.	0.000000	0.51477	D	0.000099	D	0.83562	0.5281	L	0.29908	0.895	0.47441	D	0.999428	D;D;D	0.89917	1.0;0.999;0.993	D;D;D	0.83275	0.996;0.996;0.977	T	0.83295	-0.0031	10	0.87932	D	0	-13.9122	6.6605	0.23011	0.2561:0.0:0.7439:0.0	.	1083;974;1266	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	N	974;974;1266;974;1083	ENSP00000361810:K974N;ENSP00000361809:K974N;ENSP00000287239:K1266N;ENSP00000361799:K974N;ENSP00000361796:K1083N	ENSP00000287239:K1266N	K	+	3	2	KAT6B	76458386	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.570000	0.45981	1.132000	0.42129	0.313000	0.20887	AAG		0.463	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		C	76788380	G	C	76788380	3	2	343	1	0	0	0	0	1	0	0	0	10107	933	33	4	3860	4	MYST4	10	76788380	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	4177424	76788380	58746367	47	19796											
CSTF3	1479	hgsc.bcm.edu;ucsc.edu	37	11	33127147	33127147	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr11:33127147T>G	ENST00000323959.4	-	8	690	c.551A>C	c.(550-552)gAa>gCa	p.E184A	TCP11L1_ENST00000324357.9_3'UTR	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	184					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CCAGAGCTGTTCAATGTTGAT	0.358																																																0													129	127	128					11																	33127147		2202	4298	6500	SO:0001583	missense	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.551A>C	11.37:g.33127147T>G	ENSP00000315791:p.Glu184Ala		A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.971831	0.92919	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.37411	1.2	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.85373	2.75	0.80722	D	1	D	0.56521	0.976	P	0.53861	0.736	T	0.62029	-0.6940	10	0.41790	T	0.15	.	16.1671	0.81777	0.0:0.0:0.0:1.0	.	184	Q12996	CSTF3_HUMAN	A	184;117	ENSP00000315791:E184A	ENSP00000315791:E184A	E	-	2	0	CSTF3	33083723	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.035000	0.88872	2.224000	0.72417	0.528000	0.53228	GAA		0.358	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		G	33127147	T	G	33127147	3	3	343	1	0	0	0	0	1	0	0	0	3988	1783	62	5	1658	5	CSTF3	11	33127147	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10		33127147	101879369	48	19797											
CREB3L1	90993	hgsc.bcm.edu	37	11	46332690	46332690	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr11:46332690G>C	ENST00000529193.1	+	5	1154	c.703G>C	c.(703-705)Gcg>Ccg	p.A235P	CREB3L1_ENST00000288400.3_Missense_Mutation_p.A235P			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	235					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CAGGCCCATGGCGCGCTCCTC	0.657			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0													23	28	26					11																	46332690		1975	4151	6126	SO:0001583	missense	90993				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.703G>C	11.37:g.46332690G>C	ENSP00000434939:p.Ala235Pro		Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026024	0.54683	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.76709	-1.04;-1.04	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	N	0.02721	-0.515	0.45427	D	0.998401	B	0.15719	0.014	B	0.13407	0.009	T	0.54282	-0.8317	10	0.29301	T	0.29	-21.7194	14.4082	0.67096	0.0:0.1474:0.8525:0.0	.	235	Q96BA8	CR3L1_HUMAN	P	235;235;147	ENSP00000434939:A235P;ENSP00000288400:A235P	ENSP00000288400:A235P	A	+	1	0	CREB3L1	46289266	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	6.069000	0.71209	2.452000	0.82932	0.650000	0.86243	GCG		0.657	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		C	46332690	G	C	46332690	3	2	343	1	0	0	0	0	1	0	0	0	3858	1203	42	4	721	4	CREB3L1	11	46332690	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	13205543	46332690	88673826	49	19798											
KDM2A	22992	hgsc.bcm.edu;ucsc.edu	37	11	67021798	67021798	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr11:67021798T>G	ENST00000529006.2	+	20	3662	c.3216T>G	c.(3214-3216)agT>agG	p.S1072R	KDM2A_ENST00000530342.1_Missense_Mutation_p.S633R|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.S530R|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1072					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TCGACCTCAGTCACTGCAGCC	0.562																																																0													168	165	166					11																	67021798		2189	4272	6461	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3216T>G	11.37:g.67021798T>G	ENSP00000432786:p.Ser1072Arg		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.301683	0.60195	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.32753	1.44;1.44;1.44	5.17	2.84	0.33178	.	0.095946	0.64402	D	0.000001	T	0.50582	0.1624	M	0.78801	2.425	0.49687	D	0.999812	D;D;D	0.89917	1.0;1.0;0.991	D;D;P	0.83275	0.996;0.942;0.881	T	0.42361	-0.9456	10	0.42905	T	0.14	-13.6786	7.5916	0.28025	0.0:0.3732:0.0:0.6268	.	633;530;1072	E9PIL6;D4QA03;Q9Y2K7	.;.;KDM2A_HUMAN	R	1072;633;530	ENSP00000432786:S1072R;ENSP00000435776:S633R;ENSP00000309302:S530R	ENSP00000309302:S530R	S	+	3	2	KDM2A	66778374	0.988000	0.35896	1.000000	0.80357	0.999000	0.98932	0.197000	0.17197	0.429000	0.26202	0.533000	0.62120	AGT		0.562	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		G	67021798	T	G	67021798	3	3	343	1	0	0	0	0	1	0	0	0	8126	1664	58	5	3290	5	KDM2A	11	67021798	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10	20689108	67021798	67984718	50	19799											
ARHGEF17	9828	hgsc.bcm.edu	37	11	73021667	73021667	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr11:73021667C>A	ENST00000263674.3	+	1	2334	c.1984C>A	c.(1984-1986)Ctg>Atg	p.L662M	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	662					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATTTTGCGGCCTGGGTACCAC	0.637																																																0													80	67	71					11																	73021667		2200	4293	6493	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1984C>A	11.37:g.73021667C>A	ENSP00000263674:p.Leu662Met		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557585	0.27827	.	.	ENSG00000110237	ENST00000263674	T	0.59638	0.25	4.62	1.58	0.23477	.	0.259916	0.27035	N	0.021241	T	0.51092	0.1654	N	0.24115	0.695	0.28026	N	0.934315	D	0.58268	0.982	P	0.55785	0.784	T	0.47535	-0.9110	10	0.72032	D	0.01	-8.2769	7.1496	0.25604	0.0:0.7006:0.1414:0.158	.	662	Q96PE2	ARHGH_HUMAN	M	662	ENSP00000263674:L662M	ENSP00000263674:L662M	L	+	1	2	ARHGEF17	72699315	0.025000	0.19082	0.375000	0.26029	0.200000	0.23975	0.192000	0.17096	0.149000	0.19098	0.561000	0.74099	CTG		0.637	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		A	73021667	C	A	73021667	3	1	343	1	0	0	0	0	1	0	0	0	900	680	24	4	1986	4	ARHGEF17	11	73021667	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	5999869	73021667	61984849	51	19800											
JRKL	8690	hgsc.bcm.edu;ucsc.edu	37	11	96124291	96124291	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr11:96124291C>G	ENST00000332349.4	+	2	725	c.478C>G	c.(478-480)Cga>Gga	p.R160G	CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.R160G|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	160					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		taataactttcgagattttat	0.363																																																0													27	27	27					11																	96124291		2201	4297	6498	SO:0001583	missense	8690			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"erky (mouse) homolog-like", "jerky homolog-like (mouse)"			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.478C>G	11.37:g.96124291C>G	ENSP00000333350:p.Arg160Gly		A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	C	5.321	0.244643	0.10077	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.24908	1.83;1.83	4.11	-2.7	0.06004	.	0.000000	0.34411	N	0.003993	T	0.15003	0.0362	L	0.41356	1.27	0.09310	N	1	B	0.19583	0.037	B	0.11329	0.006	T	0.21449	-1.0245	10	0.23891	T	0.37	.	7.5674	0.27887	0.4654:0.4072:0.1273:0.0	.	160	Q9Y4A0	JERKL_HUMAN	G	160	ENSP00000333350:R160G;ENSP00000389989:R160G	ENSP00000333350:R160G	R	+	1	2	JRKL	95763939	0.921000	0.31238	0.098000	0.21074	0.642000	0.38348	0.055000	0.14229	-0.268000	0.09312	-1.781000	0.00649	CGA		0.363	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772		G	96124291	C	G	96124291	3	3	343	1	0	0	0	0	1	0	0	0	7967	876	31	4	480	4	JRKL	11	96124291	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	23102624	96124291	38882225	52	19801											
FRS2	10818	hgsc.bcm.edu;ucsc.edu	37	12	69965176	69965176	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr12:69965176C>A	ENST00000550389.1	+	5	620	c.374C>A	c.(373-375)aCa>aAa	p.T125K	FRS2_ENST00000397997.2_Missense_Mutation_p.T125K|FRS2_ENST00000549921.1_Missense_Mutation_p.T125K|FRS2_ENST00000299293.2_Missense_Mutation_p.T125K	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	125					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AATCATCAGACAGAATTGGAA	0.363											OREG0021986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													105	96	99					12																	69965176		1866	4099	5965	SO:0001583	missense	10818			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.374C>A	12.37:g.69965176C>A	ENSP00000447241:p.Thr125Lys	1118	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817339	0.50633	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997;ENST00000551325	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.71	5.71	0.89125	.	0.414397	0.25929	N	0.027391	T	0.75064	0.3799	L	0.29908	0.895	0.48452	D	0.999655	B	0.30455	0.28	B	0.22880	0.042	T	0.70360	-0.4893	9	.	.	.	-8.41	19.9325	0.97124	0.0:1.0:0.0:0.0	.	125	Q8WU20	FRS2_HUMAN	K	125	ENSP00000299293:T125K;ENSP00000450048:T125K;ENSP00000447241:T125K;ENSP00000381083:T125K;ENSP00000449432:T125K	.	T	+	2	0	FRS2	68251443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.593000	0.67550	2.720000	0.93068	0.650000	0.86243	ACA		0.363	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		A	69965176	C	A	69965176	3	1	343	1	0	0	0	0	1	0	0	0	6063	478	17	4	384	4	FRS2	12	69965176	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10		69965176	63886719	53	19802											
NOS1	4842	hgsc.bcm.edu;ucsc.edu	37	12	117710228	117710228	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr12:117710228G>A	ENST00000338101.4	-	9	1805	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R601C			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CAGTAGTCGCGGACACCAATC	0.597																																					Esophageal Squamous(162;1748 2599 51982 52956)											0													71	80	77					12																	117710228		2197	4299	6496	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1801C>T	12.37:g.117710228G>A	ENSP00000337459:p.Arg601Cys			Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459172	0.84317	.	.	ENSG00000089250	ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.62498	0.02;0.02	4.7	4.7	0.59300	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91316	0.5078	10	0.87932	D	0	-22.3921	17.8477	0.88736	0.0:0.0:1.0:0.0	.	601	P29475	NOS1_HUMAN	C	601	ENSP00000320758:R601C;ENSP00000337459:R601C	ENSP00000320758:R601C	R	-	1	0	NOS1	116194611	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.950000	0.63603	2.437000	0.82529	0.655000	0.94253	CGC		0.597	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117710228	G	A	117710228	3	1	343	1	0	0	0	0	1	0	0	0	10543	1116	39	1	2583	1	NOS1	12	117710228	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	47745052	117710228	16141667	54	19803											
SLC15A4	121260	hgsc.bcm.edu;ucsc.edu	37	12	129278856	129278856	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr12:129278856G>A	ENST00000266771.5	-	8	1658	c.1619C>T	c.(1618-1620)gCt>gTt	p.A540V	SLC15A4_ENST00000544112.1_Missense_Mutation_p.A203V|SLC15A4_ENST00000545031.1_Missense_Mutation_p.A57V	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	540					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TTGAATAGCAGCCAGAAGAAA	0.438																																																0													85	96	92					12																	129278856		2203	4300	6503	SO:0001583	missense	121260			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"Solute carriers"	23090	protein-coding gene	gene with protein product		615806	"solute carrier family 15, member 4"			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1619C>T	12.37:g.129278856G>A	ENSP00000266771:p.Ala540Val		A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392014	0.83011	.	.	ENSG00000139370	ENST00000266771;ENST00000545031;ENST00000544112	T;T;T	0.81415	0.02;-1.49;0.02	5.68	5.68	0.88126	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90232	0.6946	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90388	0.4393	10	0.62326	D	0.03	.	19.7966	0.96487	0.0:0.0:1.0:0.0	.	540	Q8N697	S15A4_HUMAN	V	540;57;203	ENSP00000266771:A540V;ENSP00000444276:A57V;ENSP00000439946:A203V	ENSP00000266771:A540V	A	-	2	0	SLC15A4	127844809	1.000000	0.71417	0.980000	0.43619	0.192000	0.23643	8.704000	0.91351	2.670000	0.90874	0.655000	0.94253	GCT		0.438	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		A	129278856	G	A	129278856	3	1	343	1	0	0	0	0	1	0	0	0	14407	971	34	2	118	2	SLC15A4	12	129278856	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	11568628	129278856	4573039	55	19804											
NEK3	4752	hgsc.bcm.edu;ucsc.edu	37	13	52707349	52707349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr13:52707349C>A	ENST00000400357.2	-	14	2692	c.1399G>T	c.(1399-1401)Gaa>Taa	p.E467*	NEK3_ENST00000339406.3_Nonsense_Mutation_p.E484*|NEK3_ENST00000452082.2_Nonsense_Mutation_p.E488*|NEK3_ENST00000378101.2_Nonsense_Mutation_p.E484*			P51956	NEK3_HUMAN	NIMA-related kinase 3	484					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TTGTCATCTTCCTCCTCAAAG	0.478																																																0													55	53	54					13																	52707349		2006	4189	6195	SO:0001587	stop_gained	4752			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"serine/threonine-protein kinase NEK3", "phosphorylase B kinase kinase", "glycogen synthase A kinase", "hydroxyalkyl-protein kinase"	604044	"NIMA (never in mitosis gene a)-related kinase 3"			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1399G>T	13.37:g.52707349C>A	ENSP00000383210:p.Glu467*		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Nonsense_Mutation	SNP	ENST00000400357.2	37	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811821	0.90707	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	.	.	.	5.02	5.02	0.67125	.	0.049735	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	15.6114	0.76721	0.0:1.0:0.0:0.0	.	.	.	.	X	484;484;467;488;461	.	ENSP00000339429:E484X	E	-	1	0	NEK3	51605350	0.999000	0.42202	0.931000	0.37212	0.102000	0.19082	4.425000	0.59875	2.480000	0.83734	0.563000	0.77884	GAA		0.478	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			A	52707349	C	A	52707349	4	1	343	1	0	0	0	0	0	1	0	0	10327	864	30	4	74	4	NEK3	13	52707349	Nonsense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10		52707349	62462529	56	19805											
RNASE9	390443	hgsc.bcm.edu;ucsc.edu	37	14	21024785	21024785	+	Silent	SNP	A	A	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr14:21024785A>G	ENST00000557068.1	-	4	2169	c.444T>C	c.(442-444)ttT>ttC	p.F148F	RNASE9_ENST00000556208.1_Silent_p.F153F|RNASE9_ENST00000557209.1_Silent_p.F153F|RNASE9_ENST00000555230.1_Silent_p.F148F|RNASE9_ENST00000338904.3_Silent_p.F148F|RNASE9_ENST00000553541.1_Silent_p.F148F|RNASE9_ENST00000553706.1_Silent_p.F153F|RNASE9_ENST00000554964.1_Silent_p.F148F|RNASE9_ENST00000404716.3_Silent_p.F153F|RNASE9_ENST00000429244.2_Silent_p.F148F			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	148			F -> S (in dbSNP:rs12590446). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18992174, ECO:0000269|Ref.3}.			extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		CTGGTATTTCAAATGCTTCTG	0.358																																																0													90	78	82					14																	21024785		2203	4300	6503	SO:0001819	synonymous_variant	390443			AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"Ribonucleases, RNase A"	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.444T>C	14.37:g.21024785A>G			A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Silent	SNP	ENST00000557068.1	37	CCDS32036.1																																																																																				0.358	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1	NM_001001673		G	21024785	A	G	21024785	2	3	343	1	0	0	0	0	0	0	0	1	13416	127	5	3		3	RNASE9	14	21024785	Silent	SNP	A	TCGA-BP-4352-01A-01D-1366-10		21024785	86324755	57	19806											
RNASE1	6035	hgsc.bcm.edu	37	14	21270086	21270086	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr14:21270086T>G	ENST00000397967.4	-	2	648	c.142A>C	c.(142-144)Agc>Cgc	p.S48R	RNASE1_ENST00000555698.1_Missense_Mutation_p.S8R|RNASE1_ENST00000397970.4_Missense_Mutation_p.S48R|RNASE1_ENST00000340900.3_Missense_Mutation_p.S48R|RNASE1_ENST00000412779.2_Missense_Mutation_p.S48R	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	48					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	Guanidine(DB00536)|L-Aspartic Acid(DB00128)	GAGCTGCTGCTGGGGGAACTG	0.582																																																0													78	73	74					14																	21270086		2203	4300	6503	SO:0001583	missense	6035			BC005324	CCDS9559.1	14q11.2	2014-03-13			ENSG00000129538	ENSG00000129538	3.1.27.5	"Ribonucleases, RNase A"	10044	protein-coding gene	gene with protein product		180440		RNS1		8588814	Standard	NM_002933		Approved		uc001vyi.3	P07998	OTTHUMG00000029603	ENST00000397967.4:c.142A>C	14.37:g.21270086T>G	ENSP00000381057:p.Ser48Arg		B2R589|D3DS06|Q16830|Q16869|Q1KHR2|Q6ICS5|Q9UCB4|Q9UCB5	Missense_Mutation	SNP	ENST00000397967.4	37	CCDS9559.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015389	0.54468	.	.	ENSG00000129538	ENST00000397967;ENST00000340900;ENST00000412779;ENST00000555698;ENST00000397970	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.02	-5.32	0.02722	Ribonuclease A, domain (4);	1.825280	0.02210	N	0.063120	T	0.66790	0.2825	H	0.94385	3.53	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.64931	-0.6291	10	0.62326	D	0.03	-2.5206	1.287	0.02052	0.2695:0.3562:0.1381:0.2362	.	48	P07998	RNAS1_HUMAN	R	48;48;48;8;48	ENSP00000381057:S48R;ENSP00000344193:S48R;ENSP00000399493:S48R;ENSP00000451058:S8R;ENSP00000381060:S48R	ENSP00000344193:S48R	S	-	1	0	RNASE1	20339926	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.474000	0.02337	-0.457000	0.07033	-0.466000	0.05196	AGC		0.582	RNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073791.3			G	21270086	T	G	21270086	3	3	343	1	0	0	0	0	1	0	0	0	13405	1580	55	5	332	5	RNASE1	14	21270086	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10	245301	21270086	86079454	58	19807											
MYH6	4624	hgsc.bcm.edu	37	14	23855332	23855332	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr14:23855332C>G	ENST00000356287.3	-	33	4997	c.4968G>C	c.(4966-4968)caG>caC	p.Q1656H	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.Q1656H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1656					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGCTGGATCTGGGTGTCCT	0.632																																																0													66	53	57					14																	23855332		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4968G>C	14.37:g.23855332C>G	ENSP00000348634:p.Gln1656His		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	16.42	3.118738	0.56505	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.81821	-1.54;-1.54	4.2	3.28	0.37604	Myosin tail (1);	.	.	.	.	D	0.90120	0.6913	M	0.88450	2.955	0.50632	D	0.99988	D	0.76494	0.999	D	0.91635	0.999	D	0.91728	0.5394	9	0.87932	D	0	.	12.7637	0.57380	0.0:0.9143:0.0:0.0857	.	1656	P13533	MYH6_HUMAN	H	1656	ENSP00000386041:Q1656H;ENSP00000348634:Q1656H	ENSP00000348634:Q1656H	Q	-	3	2	MYH6	22925172	0.006000	0.16342	0.994000	0.49952	0.664000	0.39144	0.174000	0.16743	2.048000	0.60808	0.561000	0.74099	CAG		0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			G	23855332	C	G	23855332	3	3	343	1	0	0	0	0	1	0	0	0	10040	912	32	4	875	4	MYH6	14	23855332	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	2585246	23855332	83494208	59	19808											
POLE2	5427	hgsc.bcm.edu;ucsc.edu	37	14	50131848	50131848	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr14:50131848C>G	ENST00000216367.5	-	8	709	c.610G>C	c.(610-612)Gtc>Ctc	p.V204L	POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.V204L|POLE2_ENST00000539565.2_Missense_Mutation_p.V178L	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	204					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	TCTAGTTGGACTGTTCCAGTA	0.279																																																0													46	46	46					14																	50131848		2200	4294	6494	SO:0001583	missense	5427			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.610G>C	14.37:g.50131848C>G	ENSP00000216367:p.Val204Leu		A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368644	0.82463	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.41400	1.42;1.42;1.0	5.28	4.39	0.52855	.	0.051323	0.85682	D	0.000000	T	0.45796	0.1360	M	0.70842	2.15	0.80722	D	1	P	0.49090	0.919	B	0.42851	0.4	T	0.52823	-0.8524	10	0.52906	T	0.07	-19.3024	14.2274	0.65868	0.0:0.928:0.0:0.072	.	204	P56282	DPOE2_HUMAN	L	204;178;204	ENSP00000216367:V204L;ENSP00000446313:V178L;ENSP00000451621:V204L	ENSP00000216367:V204L	V	-	1	0	POLE2	49201598	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.656000	0.61483	1.380000	0.46344	0.555000	0.69702	GTC		0.279	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		G	50131848	C	G	50131848	3	3	343	1	0	0	0	0	1	0	0	0	12199	565	20	4	1021	4	POLE2	14	50131848	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	26276516	50131848	57217692	60	19809											
ZFP36L1	677	hgsc.bcm.edu;ucsc.edu	37	14	69257206	69257207	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr14:69257206_69257207insA	ENST00000439696.2	-	2	361_362	c.60_61insT	c.(58-63)ggtaacfs	p.N21fs	ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.N21fs|ZFP36L1_ENST00000555997.1_Stop_Codon_Ins	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	21					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCATCTTGTTACCCTGGAGAG	0.574											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	677			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.61dupT	14.37:g.69257207_69257207dupA	ENSP00000388402:p.Asn21fs	1113	Q13851	Frame_Shift_Ins	INS	ENST00000439696.2	37	CCDS9791.1																																																																																				0.574	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			A	69257207	-	A	69257206	7	5	343	1	0	1	1	0	0	0	0	0	17651	1754	61	0	959	0	ZFP36L1	14	69257206	Frame_Shift_Ins	INS	-	TCGA-BP-4352-01A-01D-1366-10	19125358	69257206	38092334	61	19810											
SFRS5	6430	hgsc.bcm.edu;ucsc.edu	37	14	70234985	70234985	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr14:70234985G>C	ENST00000553521.1	+	3	1565	c.112G>C	c.(112-114)Ggc>Cgc	p.G38R	SRSF5_ENST00000394366.2_Missense_Mutation_p.G38R|SRSF5_ENST00000553635.1_Missense_Mutation_p.G38R|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000451983.2_Missense_Mutation_p.G38R|SRSF5_ENST00000555349.1_Missense_Mutation_p.G38R|SRSF5_ENST00000553548.1_Missense_Mutation_p.G38R|SRSF5_ENST00000557154.1_Missense_Mutation_p.G38R|SRSF5_ENST00000554021.1_Missense_Mutation_p.G38R			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	38	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						TCTGAAAAGAGGCTTTGGTTT	0.428																																																0													205	230	221					14																	70234985		2203	4300	6503	SO:0001583	missense	6430			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.112G>C	14.37:g.70234985G>C	ENSP00000452123:p.Gly38Arg		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210381	0.95069	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553548;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;D;D;T;D;T;D;D	0.83250	2.48;2.48;-1.7;-1.7;2.48;-1.7;2.48;-1.7;-1.7	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.91673	0.7368	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	0.988;0.998;1.0	D;D;D	0.97110	0.916;0.976;1.0	D	0.91111	0.4922	10	0.54805	T	0.06	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	38;38;38	Q13243-3;Q6FGE0;Q13243	.;.;SRSF5_HUMAN	R	38	ENSP00000452123:G38R;ENSP00000377892:G38R;ENSP00000452400:G38R;ENSP00000452449:G38R;ENSP00000451088:G38R;ENSP00000402734:G38R;ENSP00000451391:G38R;ENSP00000452090:G38R;ENSP00000450918:G38R	ENSP00000377892:G38R	G	+	1	0	SRSF5	69304738	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.013000	0.88655	2.778000	0.95560	0.655000	0.94253	GGC		0.428	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		C	70234985	G	C	70234985	3	2	343	1	0	0	0	0	1	0	0	0	14186	1000	35	4	114	4	SFRS5	14	70234985	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	977779	70234985	37114555	62	19811											
NRXN3	9369	hgsc.bcm.edu	37	14	80130119	80130119	+	Splice_Site	SNP	A	A	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr14:80130119A>G	ENST00000557594.1	+	3	1382		c.e3-1		NRXN3_ENST00000335750.5_Splice_Site|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000281127.7_Splice_Site|NRXN3_ENST00000556003.1_Splice_Site|NRXN3_ENST00000428277.2_Splice_Site|NRXN3_ENST00000554719.1_Splice_Site	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3						adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCTTTATTATAGGAACAGGGG	0.428																																																0													77	77	77					14																	80130119		2203	4300	6503	SO:0001630	splice_region_variant	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.430-1A>G	14.37:g.80130119A>G			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Splice_Site	SNP	ENST00000557594.1	37		.	.	.	.	.	.	.	.	.	.	A	23.8	4.453775	0.84209	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3426	0.83092	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRXN3	79199872	1.000000	0.71417	0.884000	0.34674	0.976000	0.68499	9.271000	0.95698	2.317000	0.78254	0.460000	0.39030	.		0.428	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250	Intron	G	80130119	A	G	80130119	5	3	343	1	0	0	0	0	0	0	1	0	10669	434	15	3	2621	3	NRXN3	14	80130119	Splice_Site	SNP	A	TCGA-BP-4352-01A-01D-1366-10	9895134	80130119	27219421	63	19812											
CYFIP1	23191	hgsc.bcm.edu;ucsc.edu	37	15	22956552	22956552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr15:22956552C>T	ENST00000313077.7	+	16	1914	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	CYFIP1_ENST00000435939.2_Nonsense_Mutation_p.R166*|CYFIP1_ENST00000560848.1_Nonsense_Mutation_p.R597*	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AAAATTTCATCGAGAGTCATT	0.448																																																0													57	52	54					15																	22956552		2203	4300	6503	SO:0001587	stop_gained	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1789C>T	15.37:g.22956552C>T	ENSP00000324549:p.Arg597*			Nonsense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	40	8.059581	0.98632	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-11.7987	20.2982	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	597;625;166	.	ENSP00000324549:R597X	R	+	1	2	CYFIP1	20507993	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	4.734000	0.62043	2.873000	0.98535	0.563000	0.77884	CGA		0.448	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		T	22956552	C	T	22956552	4	4	343	1	0	0	0	0	0	1	0	0	4139	876	31	1	2228	1	CYFIP1	15	22956552	Nonsense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10		22956552	79574840	64	19813											
GABRG3	2567	hgsc.bcm.edu;ucsc.edu	37	15	27772598	27772598	+	Silent	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr15:27772598C>T	ENST00000333743.6	+	8	1139	c.885C>T	c.(883-885)acC>acT	p.T295T	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	295					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGGTGCTGACCATGACCACCC	0.577																																					NSCLC(114;800 1656 7410 37729 45293)											0													115	108	111					15																	27772598		2186	4292	6478	SO:0001819	synonymous_variant	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.885C>T	15.37:g.27772598C>T			G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	9.533	1.111348	0.20714	.	.	ENSG00000182256	ENST00000451330	.	.	.	5.48	4.37	0.52481	.	.	.	.	.	T	0.59018	0.2163	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55328	-0.8158	4	.	.	.	.	9.1675	0.37060	0.1488:0.7652:0.0:0.086	.	.	.	.	L	58	.	.	P	+	2	0	GABRG3	25446193	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.747000	0.26290	2.562000	0.86427	0.563000	0.77884	CCA		0.577	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			T	27772598	C	T	27772598	2	4	343	1	0	0	0	0	0	0	0	1	6175	581	21	2		2	GABRG3	15	27772598	Silent	SNP	C	TCGA-BP-4352-01A-01D-1366-10	4816046	27772598	74758794	65	19814											
AQR	9716	hgsc.bcm.edu;ucsc.edu	37	15	35174721	35174721	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr15:35174721C>G	ENST00000156471.5	-	27	3372	c.3147G>C	c.(3145-3147)ttG>ttC	p.L1049F		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1049					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CTAGCTTGACCAAGTCATGTC	0.338																																																0													70	64	66					15																	35174721		1825	4086	5911	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3147G>C	15.37:g.35174721C>G	ENSP00000156471:p.Leu1049Phe		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216898	0.39201	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.84516	-1.86	5.73	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	M	0.70787	2.145	0.52501	D	0.999957	D	0.64830	0.994	P	0.61477	0.889	D	0.83970	0.0326	10	0.20519	T	0.43	-12.0853	3.4005	0.07321	0.2045:0.5641:0.0:0.2314	.	1049	O60306	AQR_HUMAN	F	1049	ENSP00000156471:L1049F	ENSP00000156471:L1049F	L	-	3	2	AQR	32962013	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.414000	0.21164	1.264000	0.44198	0.591000	0.81541	TTG		0.338	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		G	35174721	C	G	35174721	3	3	343	1	0	0	0	0	1	0	0	0	835	593	21	4	1346	4	AQR	15	35174721	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	7402123	35174721	67356671	66	19815											
DTWD1	56986	hgsc.bcm.edu;ucsc.edu	37	15	49917573	49917573	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr15:49917573A>C	ENST00000251250.6	+	3	416	c.209A>C	c.(208-210)tAt>tCt	p.Y70S	DTWD1_ENST00000329873.5_Missense_Mutation_p.Y70S|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000558653.1_Missense_Mutation_p.Y70S|DTWD1_ENST00000403028.3_Missense_Mutation_p.Y70S	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	70										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TTCTACTGCTATACATGTTAT	0.323																																																0													97	90	92					15																	49917573		2196	4295	6491	SO:0001583	missense	56986			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.209A>C	15.37:g.49917573A>C	ENSP00000251250:p.Tyr70Ser		Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	ENST00000251250.6	37	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343006	0.82022	.	.	ENSG00000104047	ENST00000403028;ENST00000329873;ENST00000251250	T;T;T	0.54675	1.53;0.56;1.53	5.09	5.09	0.68999	DTW (1);	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82444	-0.0454	9	.	.	.	-10.9074	15.1692	0.72858	1.0:0.0:0.0:0.0	.	70	Q8N5C7	DTWD1_HUMAN	S	70	ENSP00000385399:Y70S;ENSP00000329313:Y70S;ENSP00000251250:Y70S	.	Y	+	2	0	DTWD1	47704865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.605000	0.90883	2.029000	0.59856	0.482000	0.46254	TAT		0.323	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234		C	49917573	A	C	49917573	3	2	343	1	0	0	0	0	1	0	0	0	4793	449	16	5	211	5	DTWD1	15	49917573	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10	14742852	49917573	52613819	67	19816											
HMG20A	10363	hgsc.bcm.edu;ucsc.edu	37	15	77771582	77771582	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr15:77771582T>G	ENST00000381714.3	+	10	1397	c.969T>G	c.(967-969)atT>atG	p.I323M	HMG20A_ENST00000336216.4_Missense_Mutation_p.I323M	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	323					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGCACAGTATTATTTTAGCTA	0.403																																																0													142	144	143					15																	77771582		2196	4294	6490	SO:0001583	missense	10363			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.969T>G	15.37:g.77771582T>G	ENSP00000371133:p.Ile323Met		A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546784	0.45383	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.67523	-0.27;-0.27	6.03	2.5	0.30297	.	0.272311	0.41823	D	0.000814	T	0.41119	0.1145	N	0.05078	-0.115	0.37670	D	0.923092	B	0.26635	0.155	B	0.29862	0.108	T	0.33979	-0.9847	10	0.41790	T	0.15	-13.1323	5.8315	0.18582	0.1305:0.1584:0.0:0.7111	.	323	Q9NP66	HM20A_HUMAN	M	323	ENSP00000336856:I323M;ENSP00000371133:I323M	ENSP00000336856:I323M	I	+	3	3	HMG20A	75558637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.026000	0.41069	1.062000	0.40625	0.455000	0.32223	ATT		0.403	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		G	77771582	T	G	77771582	3	3	343	1	0	0	0	0	1	0	0	0	7223	1742	61	5	999	5	HMG20A	15	77771582	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10	27854009	77771582	24759810	68	19817											
TMC3	342125	hgsc.bcm.edu;ucsc.edu	37	15	81644159	81644159	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr15:81644159A>G	ENST00000359440.5	-	10	1094	c.959T>C	c.(958-960)aTt>aCt	p.I320T	TMC3_ENST00000558726.1_Missense_Mutation_p.I320T|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GTTGGCAATAATCCTCAGGCA	0.532																																																0													62	62	62					15																	81644159		2067	4214	6281	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.959T>C	15.37:g.81644159A>G	ENSP00000352413:p.Ile320Thr			Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.496931	0.44352	.	.	ENSG00000188869	ENST00000359440	D	0.87966	-2.32	5.31	5.31	0.75309	.	0.113307	0.64402	D	0.000015	D	0.86477	0.5942	L	0.58101	1.795	0.80722	D	1	B;P	0.42556	0.382;0.783	B;B	0.42625	0.246;0.393	D	0.88126	0.2835	10	0.87932	D	0	-13.7684	14.4468	0.67356	1.0:0.0:0.0:0.0	.	320;320	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	T	320	ENSP00000352413:I320T	ENSP00000352413:I320T	I	-	2	0	TMC3	79431214	1.000000	0.71417	0.588000	0.28705	0.273000	0.26683	8.519000	0.90563	2.005000	0.58758	0.455000	0.32223	ATT		0.532	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		G	81644159	A	G	81644159	3	3	343	1	0	0	0	0	1	0	0	0	15991	101	4	3	2395	3	TMC3	15	81644159	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10	3872577	81644159	20887233	69	19818											
LRRK1	79705	hgsc.bcm.edu;ucsc.edu	37	15	101569276	101569276	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr15:101569276C>G	ENST00000388948.3	+	20	3161	c.2802C>G	c.(2800-2802)atC>atG	p.I934M	LRRK1_ENST00000284395.5_Missense_Mutation_p.I931M	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCAGAGGATCTTTAATATTA	0.562																																																0													69	72	71					15																	101569276		1906	4125	6031	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2802C>G	15.37:g.101569276C>G	ENSP00000373600:p.Ile934Met			Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282915	0.59867	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.77229	-1.04;-1.08	5.12	2.95	0.34219	.	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	M	0.73962	2.25	0.42321	D	0.992251	D	0.89917	1.0	D	0.73708	0.981	D	0.83547	0.0099	10	0.72032	D	0.01	.	6.1186	0.20139	0.0:0.5707:0.0:0.4293	.	934	Q38SD2	LRRK1_HUMAN	M	934;931	ENSP00000373600:I934M;ENSP00000284395:I931M	ENSP00000284395:I931M	I	+	3	3	LRRK1	99386799	0.986000	0.35501	1.000000	0.80357	0.987000	0.75469	0.213000	0.17521	1.100000	0.41517	0.655000	0.94253	ATC		0.562	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		G	101569276	C	G	101569276	3	3	343	1	0	0	0	0	1	0	0	0	9034	903	32	4	2876	4	LRRK1	15	101569276	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	19925117	101569276	962116	70	19819											
RAB40C	57799	hgsc.bcm.edu	37	16	675459	675459	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr16:675459A>G	ENST00000248139.3	+	4	495	c.292A>G	c.(292-294)Aac>Gac	p.N98D	RAB40C_ENST00000539661.1_Missense_Mutation_p.N98D|RAB40C_ENST00000538492.1_Missense_Mutation_p.N98D|RAB40C_ENST00000535977.1_Missense_Mutation_p.N98D	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	98					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TGACATCACCAACCGCTGGTC	0.632																																					Melanoma(123;1631 1690 28262 44104 44957)											0													101	77	85					16																	675459		2201	4299	6500	SO:0001583	missense	57799			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.292A>G	16.37:g.675459A>G	ENSP00000248139:p.Asn98Asp		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	37	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469843	0.84533	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	N	0.11698	0.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.73180	-0.4064	10	0.17832	T	0.49	.	14.2709	0.66152	1.0:0.0:0.0:0.0	.	98;98	Q96S21;Q5PXE8	RB40C_HUMAN;.	D	98	ENSP00000438492:N98D;ENSP00000445050:N98D;ENSP00000438382:N98D;ENSP00000248139:N98D	ENSP00000248139:N98D	N	+	1	0	RAB40C	615460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.173000	0.94815	2.028000	0.59812	0.533000	0.62120	AAC		0.632	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		G	675459	A	G	675459	3	3	343	1	0	0	0	0	1	0	0	0	12948	130	5	3	306	3	RAB40C	16	675459	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10		675459	89679294	71	19820											
TMC5	79838	hgsc.bcm.edu;ucsc.edu	37	16	19451434	19451434	+	Missense_Mutation	SNP	G	G	A	rs567263952		TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr16:19451434G>A	ENST00000396229.2	+	3	823	c.74G>A	c.(73-75)cGt>cAt	p.R25H	TMC5_ENST00000381414.4_Missense_Mutation_p.R25H|TMC5_ENST00000541464.1_Missense_Mutation_p.R25H|TMC5_ENST00000542583.2_Missense_Mutation_p.R25H	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	25					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTCAGAACCGTACGCAGGGG	0.498													g|||	1	0.000199681	0.0	0.0	5008	,	,		18124	0.0		0.0	False		,,,				2504	0.001															0													99	96	97					16																	19451434		1872	4118	5990	SO:0001583	missense	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.74G>A	16.37:g.19451434G>A	ENSP00000379531:p.Arg25His		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	g	5.338	0.247637	0.10130	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.65916	-0.18;0.03;-0.17;-0.17	4.89	-9.78	0.00496	.	16.045300	0.00166	N	0.000000	T	0.33556	0.0867	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22347	-1.0219	10	0.14252	T	0.57	7.6197	8.6355	0.33945	0.5689:0.2845:0.1466:0.0	.	25;25;25	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	H	25	ENSP00000441227:R25H;ENSP00000370822:R25H;ENSP00000379531:R25H;ENSP00000446274:R25H	ENSP00000370822:R25H	R	+	2	0	TMC5	19358935	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.790000	0.01759	-2.537000	0.00488	-0.119000	0.15052	CGT		0.498	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		A	19451434	G	A	19451434	3	1	343	1	0	0	0	0	1	0	0	0	15993	1145	40	1	76	1	TMC5	16	19451434	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	18775975	19451434	70903319	72	19821											
CACNG3	10368	hgsc.bcm.edu;ucsc.edu	37	16	24268095	24268095	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr16:24268095G>A	ENST00000005284.3	+	1	1222	c.20G>A	c.(19-21)gGt>gAt	p.G7D		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	7					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGTGACAGAGGTATCCAGATG	0.522																																																0													175	179	178					16																	24268095		2197	4300	6497	SO:0001583	missense	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.20G>A	16.37:g.24268095G>A	ENSP00000005284:p.Gly7Asp			Missense_Mutation	SNP	ENST00000005284.3	37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280894	0.80692	.	.	ENSG00000006116	ENST00000005284	D	0.89810	-2.57	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94670	0.7856	10	0.51188	T	0.08	-7.862	17.6597	0.88188	0.0:0.0:1.0:0.0	.	7	O60359	CCG3_HUMAN	D	7	ENSP00000005284:G7D	ENSP00000005284:G7D	G	+	2	0	CACNG3	24175596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.756000	0.94617	0.655000	0.94253	GGT		0.522	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		A	24268095	G	A	24268095	3	1	343	1	0	0	0	0	1	0	0	0	2560	1261	44	2	22	2	CACNG3	16	24268095	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	4816661	24268095	66086658	73	19822											
LONP2	83752	hgsc.bcm.edu;ucsc.edu	37	16	48311325	48311325	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr16:48311325C>G	ENST00000285737.4	+	8	1411	c.1318C>G	c.(1318-1320)Cta>Gta	p.L440V	LONP2_ENST00000535754.1_Missense_Mutation_p.L396V	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCCAGTGTTCCTATTAGATGA	0.478																																																0													120	107	111					16																	48311325		2200	4300	6500	SO:0001583	missense	83752			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1318C>G	16.37:g.48311325C>G	ENSP00000285737:p.Leu440Val			Missense_Mutation	SNP	ENST00000285737.4	37	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240919	0.79912	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	D;D;D	0.94000	-3.33;-3.33;-3.33	5.81	5.81	0.92471	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96340	0.8806	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96209	0.9151	10	0.72032	D	0.01	-12.9948	20.0763	0.97746	0.0:1.0:0.0:0.0	.	396;440	B7ZKL7;Q86WA8	.;LONP2_HUMAN	V	440;169;396;396	ENSP00000285737:L440V;ENSP00000445426:L396V;ENSP00000415983:L396V	ENSP00000285737:L440V	L	+	1	2	LONP2	46868826	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	3.129000	0.50500	2.756000	0.94617	0.655000	0.94253	CTA		0.478	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		G	48311325	C	G	48311325	3	3	343	1	0	0	0	0	1	0	0	0	8895	680	24	4	1348	4	LONP2	16	48311325	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	24043230	48311325	42043428	74	19823											
ZNF821	55565	hgsc.bcm.edu	37	16	71893982	71893982	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr16:71893982A>C	ENST00000565601.1	-	7	1585	c.1178T>G	c.(1177-1179)tTg>tGg	p.L393W	ZNF821_ENST00000564134.1_3'UTR|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000425432.1_Missense_Mutation_p.L393W|ZNF821_ENST00000446827.2_Missense_Mutation_p.L351W|ZNF821_ENST00000313565.6_Missense_Mutation_p.L351W	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						CTGGCTGTCCAACTCCACCCC	0.562																																																0													70	56	61					16																	71893982		2198	4300	6498	SO:0001583	missense	55565			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"Zinc fingers, C2H2-type"	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.1178T>G	16.37:g.71893982A>C	ENSP00000455648:p.Leu393Trp		A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	ENST00000565601.1	37	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.788981	0.70337	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.02301	5.93;4.35;4.35	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000018	T	0.06645	0.0170	N	0.19112	0.55	0.46185	D	0.998918	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73380	0.97;0.98;0.97	T	0.46652	-0.9176	10	0.87932	D	0	-7.746	16.8061	0.85666	1.0:0.0:0.0:0.0	.	393;351;393	B4DKK4;O75541-2;O75541	.;.;ZN821_HUMAN	W	393;351;351	ENSP00000398089:L393W;ENSP00000313822:L351W;ENSP00000405908:L351W	ENSP00000313822:L351W	L	-	2	0	ZNF821	70451483	.	.	0.984000	0.44739	0.994000	0.84299	.	.	2.367000	0.80283	0.528000	0.53228	TTG		0.562	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		C	71893982	A	C	71893982	3	2	343	1	0	0	0	0	1	0	0	0	18183	131	5	5	64	5	ZNF821	16	71893982	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10	23582657	71893982	18460771	75	19824											
TAF1C	9013	hgsc.bcm.edu;ucsc.edu	37	16	84216708	84216708	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr16:84216708C>G	ENST00000567759.1	-	6	638	c.456G>C	c.(454-456)caG>caC	p.Q152H	TAF1C_ENST00000541676.1_Missense_Mutation_p.Q85H|TAF1C_ENST00000565544.1_5'Flank|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000378541.4_Missense_Mutation_p.Q152H|TAF1C_ENST00000341690.6_Missense_Mutation_p.Q85H|TAF1C_ENST00000566732.1_Missense_Mutation_p.Q152H	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	152					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CACCGAGGTCCTGGAGCAGCT	0.577																																																0													195	173	181					16																	84216708		2200	4300	6500	SO:0001583	missense	9013			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.456G>C	16.37:g.84216708C>G	ENSP00000455265:p.Gln152His		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546903	0.27652	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.04502	3.69;3.61;3.61	4.63	3.66	0.41972	.	0.505555	0.16730	N	0.201890	T	0.11707	0.0285	M	0.67953	2.075	0.33864	D	0.634087	P;B;B;B	0.52061	0.95;0.004;0.01;0.004	P;B;B;B	0.53809	0.735;0.007;0.01;0.007	T	0.04961	-1.0915	10	0.59425	D	0.04	-7.7008	7.9962	0.30269	0.0:0.8877:0.0:0.1123	.	152;152;152;85	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	H	152;85;85;152	ENSP00000367802:Q152H;ENSP00000437900:Q85H;ENSP00000345305:Q85H	ENSP00000345305:Q85H	Q	-	3	2	TAF1C	82774209	0.933000	0.31639	0.991000	0.47740	0.319000	0.28217	0.724000	0.25954	2.283000	0.76528	0.563000	0.77884	CAG		0.577	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		G	84216708	C	G	84216708	3	3	343	1	0	0	0	0	1	0	0	0	15526	680	24	4	2189	4	TAF1C	16	84216708	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	12322726	84216708	6138045	76	19825											
MTHFSD	64779	hgsc.bcm.edu;ucsc.edu	37	16	86585687	86585687	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr16:86585687T>A	ENST00000360900.6	-	3	214	c.189A>T	c.(187-189)aaA>aaT	p.K63N	MTHFSD_ENST00000546093.1_Intron|MTHFSD_ENST00000322911.6_Missense_Mutation_p.K62N|MTHFSD_ENST00000543303.2_Intron|MTHFSD_ENST00000568037.1_Intron|MTHFSD_ENST00000381214.5_Intron	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	63							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGGGTCCACTTTAACTTCCT	0.522																																																0													205	208	207					16																	86585687		1919	4144	6063	SO:0001583	missense	64779			AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.189A>T	16.37:g.86585687T>A	ENSP00000354152:p.Lys63Asn		A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.364681	0.82463	.	.	ENSG00000103248	ENST00000543303;ENST00000360900;ENST00000322911	T;T	0.47528	0.84;0.84	5.93	1.17	0.20885	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70833	0.3269	M	0.91038	3.17	0.51482	D	0.999927	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73375	-0.4002	10	0.72032	D	0.01	-7.9643	10.4815	0.44695	0.0:0.3332:0.0:0.6668	.	63;62	Q2M296;Q2M296-2	MTHSD_HUMAN;.	N	61;63;62	ENSP00000354152:K63N;ENSP00000326777:K62N	ENSP00000326777:K62N	K	-	3	2	MTHFSD	85143188	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.676000	0.25247	0.166000	0.19597	0.533000	0.62120	AAA		0.522	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		A	86585687	T	A	86585687	3	1	343	1	0	0	0	0	1	0	0	0	9935	1606	56	5	986	5	MTHFSD	16	86585687	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10	2368979	86585687	3769066	77	19826											
IMPA2	3613	hgsc.bcm.edu;ucsc.edu	37	18	12030440	12030440	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr18:12030440C>T	ENST00000269159.3	+	8	1092	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	IMPA2_ENST00000588927.1_Missense_Mutation_p.R95W|IMPA2_ENST00000589238.1_Missense_Mutation_p.R95W|RP11-703I16.1_ENST00000587619.1_RNA	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	284					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TAACTATGGGCGGGATGATGA	0.637																																																0													82	64	70					18																	12030440		2203	4300	6503	SO:0001583	missense	3613			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.850C>T	18.37:g.12030440C>T	ENSP00000269159:p.Arg284Trp		B0YJ29|Q9UJT3	Missense_Mutation	SNP	ENST00000269159.3	37	CCDS11855.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083349	0.76642	.	.	ENSG00000141401	ENST00000269159	T	0.35789	1.29	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.83275	0.966;0.996	T	0.57306	-0.7834	10	0.87932	D	0	-22.6148	14.6025	0.68450	0.1465:0.8535:0.0:0.0	.	257;284	O14732-2;O14732	.;IMPA2_HUMAN	W	284	ENSP00000269159:R284W	ENSP00000269159:R284W	R	+	1	2	IMPA2	12020440	0.981000	0.34729	1.000000	0.80357	0.925000	0.55904	2.542000	0.45744	2.471000	0.83476	0.561000	0.74099	CGG		0.637	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			T	12030440	C	T	12030440	3	4	343	1	0	0	0	0	1	0	0	0	7725	759	27	1	880	1	IMPA2	18	12030440	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10		12030440	66046808	78	19827											
SLC14A2	8170	hgsc.bcm.edu;ucsc.edu	37	18	43249307	43249307	+	Silent	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr18:43249307C>T	ENST00000255226.6	+	16	2889	c.2073C>T	c.(2071-2073)agC>agT	p.S691S	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.S691S|SLC14A2_ENST00000589658.1_Silent_p.S168S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	691					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATCTTCAGCAAGTGGGACC	0.552																																																0													179	166	171					18																	43249307		2203	4300	6503	SO:0001819	synonymous_variant	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2073C>T	18.37:g.43249307C>T			A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																				0.552	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			T	43249307	C	T	43249307	2	4	343	1	0	0	0	0	0	0	0	1	14403	709	25	2		2	SLC14A2	18	43249307	Silent	SNP	C	TCGA-BP-4352-01A-01D-1366-10	31218867	43249307	34827941	79	19828											
MYO1F	4542	hgsc.bcm.edu	37	19	8612963	8612963	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr19:8612963T>A	ENST00000338257.8	-	12	1493	c.1226A>T	c.(1225-1227)aAg>aTg	p.K409M	AC092316.2_ENST00000581156.1_RNA|AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	409	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTGCTGCAGCTTCTCATTGAC	0.542																																																0													133	128	129					19																	8612963		1909	4133	6042	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1226A>T	19.37:g.8612963T>A	ENSP00000344871:p.Lys409Met		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515136	0.85389	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.90004	-2.6	4.92	4.92	0.64577	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.95765	0.8622	H	0.94183	3.505	0.58432	D	0.999995	D	0.76494	0.999	D	0.76575	0.988	D	0.96806	0.9593	10	0.87932	D	0	.	13.7499	0.62901	0.0:0.0:0.0:1.0	.	409	O00160	MYO1F_HUMAN	M	454;409	ENSP00000344871:K409M	ENSP00000304899:K454M	K	-	2	0	MYO1F	8518963	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.005000	0.88553	1.851000	0.53745	0.460000	0.39030	AAG		0.542	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			A	8612963	T	A	8612963	3	1	343	1	0	0	0	0	1	0	0	0	10075	1609	56	5	2138	5	MYO1F	19	8612963	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10		8612963	50516020	80	19829											
CACNA1A	773	hgsc.bcm.edu	37	19	13366050	13366050	+	Silent	SNP	G	G	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr19:13366050G>T	ENST00000360228.5	-	29	4613	c.4614C>A	c.(4612-4614)atC>atA	p.I1538I	CACNA1A_ENST00000573710.2_Silent_p.I1539I|CACNA1A_ENST00000574822.1_5'Flank	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1539					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTTGGCGCTGATGGCGAAAT	0.607																																																0													47	51	50					19																	13366050		2104	4206	6310	SO:0001819	synonymous_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4614C>A	19.37:g.13366050G>T			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.607	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13366050	G	T	13366050	2	4	343	1	0	0	0	0	0	0	0	1	2540	1280	45	4		4	CACNA1A	19	13366050	Silent	SNP	G	TCGA-BP-4352-01A-01D-1366-10	4753087	13366050	45762933	81	19830											
CACNA1A	773	hgsc.bcm.edu;ucsc.edu	37	19	13414666	13414666	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr19:13414666C>A	ENST00000360228.5	-	16	2018	c.2019G>T	c.(2017-2019)atG>atT	p.M673I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.M674I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	674					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCGTCGTACATGACCTCGT	0.567																																																0													157	162	160					19																	13414666		2030	4180	6210	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2019G>T	19.37:g.13414666C>A	ENSP00000353362:p.Met673Ile		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732617	0.69189	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98701	-5.08	4.58	4.58	0.56647	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99039	0.9671	M	0.81112	2.525	0.53688	D	0.999978	D;D;P	0.59357	0.985;0.982;0.86	D;D;P	0.72338	0.977;0.961;0.844	D	0.99585	1.0974	10	0.87932	D	0	.	16.302	0.82825	0.0:1.0:0.0:0.0	.	674;674;673	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	I	673;674;674;674	ENSP00000353362:M673I	ENSP00000317661:M674I	M	-	3	0	CACNA1A	13275666	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.536000	0.82023	2.371000	0.80710	0.591000	0.81541	ATG		0.567	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13414666	C	A	13414666	3	1	343	1	0	0	0	0	1	0	0	0	2540	478	17	4	5740	4	CACNA1A	19	13414666	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	48616	13414666	45714317	82	19831											
PODNL1	79883	hgsc.bcm.edu	37	19	14046562	14046562	+	Missense_Mutation	SNP	G	G	C	rs151337979		TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr19:14046562G>C	ENST00000339560.5	-	5	760	c.487C>G	c.(487-489)Ctc>Gtc	p.L163V	PODNL1_ENST00000254320.3_Missense_Mutation_p.L81V|PODNL1_ENST00000538517.2_Intron|PODNL1_ENST00000538371.2_Missense_Mutation_p.L161V	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	163	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CCAAAGGTGAGGGGGAAGATC	0.632																																																0													26	29	28					19																	14046562		2202	4298	6500	SO:0001583	missense	79883			AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.487C>G	19.37:g.14046562G>C	ENSP00000345175:p.Leu163Val		B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	G	5.548	0.285961	0.10513	.	.	ENSG00000132000	ENST00000538371;ENST00000339560;ENST00000254320	T;T;T	0.24908	1.83;5.48;1.85	4.97	4.97	0.65823	.	0.000000	0.44688	D	0.000438	T	0.30448	0.0765	L	0.43152	1.355	0.28956	N	0.890115	D;B;P	0.59767	0.986;0.104;0.945	P;B;P	0.55391	0.775;0.024;0.621	T	0.08046	-1.0741	10	0.17369	T	0.5	.	9.4551	0.38750	0.0988:0.0:0.9012:0.0	.	161;81;163	F5H7F9;B7Z3M0;Q6PEZ8	.;.;PONL1_HUMAN	V	161;163;81	ENSP00000442553:L161V;ENSP00000345175:L163V;ENSP00000254320:L81V	ENSP00000254320:L81V	L	-	1	0	PODNL1	13907562	0.995000	0.38212	0.959000	0.39883	0.186000	0.23388	2.602000	0.46257	2.298000	0.77334	0.479000	0.44913	CTC		0.632	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		C	14046562	G	C	14046562	3	2	343	1	0	0	0	0	1	0	0	0	12181	1000	35	4	1067	4	PODNL1	19	14046562	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	631896	14046562	45082421	83	19832											
ZNF781	163115	hgsc.bcm.edu;ucsc.edu	37	19	38160410	38160410	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr19:38160410G>A	ENST00000590008.1	-	5	1492	c.640C>T	c.(640-642)Cac>Tac	p.H214Y	ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Missense_Mutation_p.H214Y|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTAAGATGTGCACTTTGCCT	0.348																																																0													70	69	70					19																	38160410		2203	4300	6503	SO:0001583	missense	163115			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"Zinc fingers, C2H2-type"	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.640C>T	19.37:g.38160410G>A	ENSP00000466370:p.His214Tyr		Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	G	7.466	0.645737	0.14451	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.07444	3.19	2.4	1.34	0.21922	.	.	.	.	.	T	0.10637	0.0260	M	0.67397	2.05	0.09310	N	1	D	0.56521	0.976	P	0.44359	0.447	T	0.25606	-1.0127	9	0.66056	D	0.02	3.109	4.4176	0.11465	0.1442:0.0:0.6312:0.2246	.	214	Q8N8C0	ZN781_HUMAN	Y	214	ENSP00000351391:H214Y	ENSP00000351391:H214Y	H	-	1	0	ZNF781	42852250	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.084000	0.30828	1.327000	0.45338	0.543000	0.68304	CAC		0.348	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		A	38160410	G	A	38160410	3	1	343	1	0	0	0	0	1	0	0	0	18159	1319	46	2	347	2	ZNF781	19	38160410	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	24113848	38160410	20968573	84	19833											
DIDO1	11083	hgsc.bcm.edu;ucsc.edu	37	20	61527636	61527636	+	Silent	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr20:61527636G>A	ENST00000266070.4	-	8	2488	c.2163C>T	c.(2161-2163)taC>taT	p.Y721Y	DIDO1_ENST00000395340.1_Silent_p.Y721Y|DIDO1_ENST00000395335.2_Silent_p.Y721Y|DIDO1_ENST00000395343.1_Silent_p.Y721Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	721	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATTTACTCTTGTAGCGATTAT	0.418																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0													182	163	170					20																	61527636		2203	4300	6503	SO:0001819	synonymous_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2163C>T	20.37:g.61527636G>A			A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																				0.418	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		A	61527636	G	A	61527636	2	1	343	1	0	0	0	0	0	0	0	1	4524	1372	48	2		2	DIDO1	20	61527636	Silent	SNP	G	TCGA-BP-4352-01A-01D-1366-10		61527636	1497884	85	19834											
NCAM2	4685	hgsc.bcm.edu;ucsc.edu	37	21	22652947	22652947	+	Silent	SNP	A	A	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr21:22652947A>G	ENST00000400546.1	+	2	354	c.105A>G	c.(103-105)ggA>ggG	p.G35G	NCAM2_ENST00000535285.1_Silent_p.G60G|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	35	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTAGTGTTGGAGAATCTAAAT	0.303																																																0													69	66	67					21																	22652947		1805	4075	5880	SO:0001819	synonymous_variant	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.105A>G	21.37:g.22652947A>G			A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	CCDS42910.1																																																																																				0.303	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		G	22652947	A	G	22652947	2	3	343	1	0	0	0	0	0	0	0	1	10205	291	11	3		3	NCAM2	21	22652947	Silent	SNP	A	TCGA-BP-4352-01A-01D-1366-10		22652947	25476948	86	19835											
IFNAR1	3454	hgsc.bcm.edu;ucsc.edu	37	21	34713364	34713364	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chr21:34713364G>A	ENST00000270139.3	+	3	412	c.260G>A	c.(259-261)tGc>tAc	p.C87Y	IFNAR1_ENST00000416947.2_Missense_Mutation_p.C18Y|IFNAR1_ENST00000442357.2_Missense_Mutation_p.C87Y	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	87	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	AGTACCAAATGCAACTTTTCT	0.313																																					Esophageal Squamous(73;817 1211 32990 35667 42746)											0													69	72	71					21																	34713364		2203	4298	6501	SO:0001583	missense	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.260G>A	21.37:g.34713364G>A	ENSP00000270139:p.Cys87Tyr		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958130	0.53400	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442071;ENST00000442357	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.49	5.49	0.81192	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	M	0.87381	2.88	0.40569	D	0.981283	D	0.69078	0.997	D	0.68039	0.955	D	0.94807	0.7975	10	0.87932	D	0	-16.0432	14.8923	0.70617	0.0:0.0:1.0:0.0	.	87	P17181	INAR1_HUMAN	Y	18;87;87;87	ENSP00000395606:C18Y;ENSP00000270139:C87Y;ENSP00000400161:C87Y;ENSP00000407406:C87Y	ENSP00000270139:C87Y	C	+	2	0	IFNAR1	33635234	0.979000	0.34478	0.796000	0.32109	0.645000	0.38454	3.161000	0.50747	2.566000	0.86566	0.563000	0.77884	TGC		0.313	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			A	34713364	G	A	34713364	3	1	343	1	0	0	0	0	1	0	0	0	7546	1319	46	2	270	2	IFNAR1	21	34713364	Missense_Mutation	SNP	G	TCGA-BP-4352-01A-01D-1366-10	12060417	34713364	13416531	87	19836											
ASMTL	8623	hgsc.bcm.edu	37	X	1537881	1537881	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chrX:1537881C>T	ENST00000381317.3	-	10	1404	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	ASMTL_ENST00000416733.2_Missense_Mutation_p.V382M|ASMTL_ENST00000381333.4_Missense_Mutation_p.V442M|ASMTL_ENST00000534940.1_Missense_Mutation_p.V400M	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	458	ASMT-like.		V -> M (in dbSNP:rs4503285). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCACCTCCCACGTCGCAGGCG	0.612													c|||	1330	0.265575	0.3056	0.3127	5008	,	,		15599	0.2163		0.2247	False		,,,				2504	0.271															0									MET/VAL,MET/VAL,MET/VAL	1063,2945		147,769,1088	30	42	38		1198,1324,1372	0.6	0.3	X	dbSNP_134	38	2099,6171		278,1543,2314	no	missense,missense,missense	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	21,21,21	425,2312,3402	TT,TC,CC		25.3809,26.522,25.7534	possibly-damaging,possibly-damaging,possibly-damaging	400/564,442/606,458/622	1537881	3162,9116	2004	4135	6139	SO:0001583	missense	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1372G>A	X.37:g.1537881C>T	ENSP00000370718:p.Val458Met		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	CCDS43917.1	563	0.25778388278388276	137	0.2784552845528455	119	0.3287292817679558	129	0.22552447552447552	178	0.23482849604221637	c	5.889	0.348066	0.11126	0.26522	0.253809	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	1.58	0.547	0.17202	O-methyltransferase, family 2 (1);	0.209188	0.30293	U	0.009956	T	0.00012	0.0000	M	0.64170	1.965	0.09310	N	1	D;D;D	0.59357	0.973;0.985;0.973	P;B;B	0.46253	0.509;0.405;0.322	T	0.29336	-1.0015	10	0.66056	D	0.02	.	2.9037	0.05714	0.4205:0.2351:0.3444:0.0	rs4503285;rs17855417;rs4503285	382;442;458	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	M	382;400;442;458	ENSP00000410578:V382M;ENSP00000446410:V400M;ENSP00000370734:V442M;ENSP00000370718:V458M	ENSP00000370718:V458M	V	-	1	0	ASMTL	1497881	1.000000	0.71417	0.298000	0.25002	0.157000	0.22087	0.547000	0.23299	-0.451000	0.07097	0.100000	0.15512	GTG		0.612	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		T	1537881	C	T	1537881	3	4	343	1	0	0	0	0	1	0	0	0	1046	536	19	1	509	1	ASMTL	23	1537881	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10		1537881	153732679	88	19837											
HUWE1	10075	hgsc.bcm.edu;ucsc.edu	37	X	53585980	53585980	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chrX:53585980C>T	ENST00000342160.3	-	57	8414	c.7957G>A	c.(7957-7959)Gaa>Aaa	p.E2653K	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Missense_Mutation_p.E2653K|MIR98_ENST00000606724.1_RNA			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2653					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGCATTCTTCTGTCCAGCGG	0.532																																																0													51	35	40					X																	53585980		2195	4276	6471	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7957G>A	X.37:g.53585980C>T	ENSP00000340648:p.Glu2653Lys		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.722700|4.722700	0.89298|0.89298	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.50813|.	0.73;0.73|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.060582|.	0.64402|.	D|.	0.000004|.	T|T	0.55353|0.55353	0.1915|0.1915	L|L	0.27053|0.27053	0.805|0.805	0.52501|0.52501	D|D	0.999952|0.999952	P;P|.	0.40731|.	0.608;0.728|.	B;B|.	0.36092|.	0.076;0.217|.	T|T	0.51687|0.51687	-0.8674|-0.8674	10|5	0.54805|.	T|.	0.06|.	.|.	16.9394|16.9394	0.86213|0.86213	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2653;2653|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	K|K	2653|1686	ENSP00000340648:E2653K;ENSP00000262854:E2653K|.	ENSP00000262854:E2653K|.	E|R	-|-	1|2	0|0	HUWE1|HUWE1	53602705|53602705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.059000|7.059000	0.76684|0.76684	2.261000|2.261000	0.74972|0.74972	0.513000|0.513000	0.50165|0.50165	GAA|AGA		0.532	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53585980	C	T	53585980	3	4	343	1	0	0	0	0	1	0	0	0	7463	922	32	2	5275	2	HUWE1	23	53585980	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	52048099	53585980	101684580	89	19838											
ALAS2	212	hgsc.bcm.edu;ucsc.edu	37	X	55051164	55051164	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chrX:55051164C>G	ENST00000330807.5	-	3	428	c.291G>C	c.(289-291)aaG>aaC	p.K97N	ALAS2_ENST00000335854.4_Missense_Mutation_p.K97N|ALAS2_ENST00000396198.3_Missense_Mutation_p.K121N	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	97					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TCTTGAAAGCCTTCACATCTT	0.502																																																0													232	139	171					X																	55051164		2203	4300	6503	SO:0001583	missense	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.291G>C	X.37:g.55051164C>G	ENSP00000332369:p.Lys97Asn		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	CCDS14366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.37|11.37	1.618509|1.618509	0.28801|0.28801	.|.	.|.	ENSG00000158578|ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854|ENST00000455688	D;D;D|.	0.97016|.	-4.21;-4.2;-4.17|.	4.75|4.75	2.95|2.95	0.34219|0.34219	5-aminolevulinate synthase presequence (1);|.	0.327068|.	0.34628|.	N|.	0.003803|.	T|T	0.34803|0.34803	0.0910|0.0910	L|L	0.39898|0.39898	1.24|1.24	0.28488|0.28488	N|N	0.914612|0.914612	B;B;B|.	0.31256|.	0.154;0.316;0.254|.	B;B;B|.	0.38755|.	0.143;0.281;0.219|.	T|T	0.24835|0.24835	-1.0149|-1.0149	10|5	0.18276|.	T|.	0.48|.	-13.2115|-13.2115	5.3539|5.3539	0.16050|0.16050	0.0:0.639:0.1664:0.1946|0.0:0.639:0.1664:0.1946	.|.	97;121;97|.	A8K6C4;Q5JZF5;P22557|.	.;.;HEM0_HUMAN|.	N|T	97;121;97|49	ENSP00000332369:K97N;ENSP00000379501:K121N;ENSP00000337131:K97N|.	ENSP00000332369:K97N|.	K|R	-|-	3|2	2|0	ALAS2|ALAS2	55067889|55067889	0.913000|0.913000	0.31002|0.31002	0.957000|0.957000	0.39632|0.39632	0.577000|0.577000	0.36160|0.36160	1.061000|1.061000	0.30542|0.30542	0.937000|0.937000	0.37394|0.37394	-0.192000|-0.192000	0.12808|0.12808	AAG|AGG		0.502	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		G	55051164	C	G	55051164	3	3	343	1	0	0	0	0	1	0	0	0	485	680	24	4	1508	4	ALAS2	23	55051164	Missense_Mutation	SNP	C	TCGA-BP-4352-01A-01D-1366-10	1465184	55051164	100219396	90	19839											
ABCB7	22	hgsc.bcm.edu;ucsc.edu	37	X	74290344	74290344	+	Silent	SNP	A	A	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chrX:74290344A>C	ENST00000373394.3	-	10	1228	c.1221T>G	c.(1219-1221)gtT>gtG	p.V407V	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Silent_p.V367V|ABCB7_ENST00000253577.3_Silent_p.V408V			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	407	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTAGATCTCCAACAGTAAGGG	0.358																																																0													107	103	104					X																	74290344		2203	4300	6503	SO:0001819	synonymous_variant	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1221T>G	X.37:g.74290344A>C			G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Silent	SNP	ENST00000373394.3	37																																																																																					0.358	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		C	74290344	A	C	74290344	2	2	343	1	0	0	0	0	0	0	0	1	46	117	5	5		5	ABCB7	23	74290344	Silent	SNP	A	TCGA-BP-4352-01A-01D-1366-10	19239180	74290344	80980216	91	19840											
ZNF711	7552	hgsc.bcm.edu	37	X	84526278	84526278	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chrX:84526278T>C	ENST00000373165.3	+	9	2036	c.1730T>C	c.(1729-1731)cTt>cCt	p.L577P	ZNF711_ENST00000395402.1_Missense_Mutation_p.L585P|ZNF711_ENST00000360700.4_Missense_Mutation_p.L623P|ZNF711_ENST00000542798.1_Missense_Mutation_p.L419P|ZNF711_ENST00000276123.3_Missense_Mutation_p.L577P	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	577				L -> P (in Ref. 3; BAG61766). {ECO:0000305}.	positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GAGAGGGAGCTTCAACGCCAT	0.408																																																0													79	63	68					X																	84526278		2201	4298	6499	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1730T>C	X.37:g.84526278T>C	ENSP00000362260:p.Leu577Pro		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.609816	0.28712	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.3	2.93	0.34026	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.189536	0.25529	N	0.030048	T	0.41604	0.1166	H	0.96208	3.785	0.80722	D	1	B;B	0.18968	0.032;0.0	B;B	0.21360	0.034;0.001	T	0.45498	-0.9257	10	0.87932	D	0	-2.2071	8.5625	0.33520	0.0:0.1589:0.0:0.8411	.	623;577	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	P	585;577;577;623;419	ENSP00000378798:L585P;ENSP00000362260:L577P;ENSP00000276123:L577P;ENSP00000353922:L623P;ENSP00000442071:L419P	ENSP00000276123:L577P	L	+	2	0	ZNF711	84412934	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	5.060000	0.64312	0.678000	0.31325	0.417000	0.27973	CTT		0.408	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		C	84526278	T	C	84526278	3	2	343	1	0	0	0	0	1	0	0	0	18121	1609	56	3	1756	3	ZNF711	23	84526278	Missense_Mutation	SNP	T	TCGA-BP-4352-01A-01D-1366-10	10235934	84526278	70744282	92	19841											
HCFC1	3054	hgsc.bcm.edu	37	X	153215992	153215992	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chrX:153215992A>T	ENST00000310441.7	-	24	6672	c.5706T>A	c.(5704-5706)agT>agA	p.S1902R	HCFC1_ENST00000354233.3_Missense_Mutation_p.S1833R|HCFC1_ENST00000369984.4_Missense_Mutation_p.S1947R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1902	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCATCCGGACTCTAGAAGC	0.542																																																0													36	39	38					X																	153215992		2103	4210	6313	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5706T>A	X.37:g.153215992A>T	ENSP00000309555:p.Ser1902Arg		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.93|14.93	2.683569|2.683569	0.47991|0.47991	.|.	.|.	ENSG00000172534|ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233|ENST00000444191	T;T;T|T	0.58210|0.36340	0.35;0.35;0.35|1.26	5.17|5.17	-2.87|-2.87	0.05700|0.05700	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.038775|0.038775	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.50497|0.50497	0.1619|0.1619	M|M	0.85197|0.85197	2.74|2.74	0.32847|0.32847	D|D	0.506081|0.506081	P|.	0.44877|.	0.845|.	B|.	0.38106|.	0.265|.	T|T	0.59794|0.59794	-0.7387|-0.7387	10|8	0.72032|0.40728	D|T	0.01|0.16	.|.	12.6476|12.6476	0.56744|0.56744	0.4172:0.0:0.5828:0.0|0.4172:0.0:0.5828:0.0	.|.	1902|.	P51610|.	HCFC1_HUMAN|.	R|T	1902;1947;1833|478	ENSP00000309555:S1902R;ENSP00000359001:S1947R;ENSP00000346174:S1833R|ENSP00000399589:S478T	ENSP00000309555:S1902R|ENSP00000399589:S478T	S|S	-|-	3|1	2|0	HCFC1|HCFC1	152869186|152869186	0.915000|0.915000	0.31059|0.31059	0.389000|0.389000	0.26208|0.26208	0.086000|0.086000	0.17979|0.17979	0.096000|0.096000	0.15147|0.15147	-1.077000|-1.077000	0.03121|0.03121	0.424000|0.424000	0.28305|0.28305	AGT|TCC		0.542	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		T	153215992	A	T	153215992	3	4	343	1	0	0	0	0	1	0	0	0	6993	272	10	5	413	5	HCFC1	23	153215992	Missense_Mutation	SNP	A	TCGA-BP-4352-01A-01D-1366-10	68689714	153215992	2054568	93	19842											
ATP6AP1	537	hgsc.bcm.edu	37	X	153662580	153662580	+	Silent	SNP	C	C	T			TCGA-BP-4352-01A-01D-1366-10	TCGA-BP-4352-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b976a492-5792-42d3-bec3-5bbb7292cac5	9461b657-9b8f-4cf6-a0eb-27cb3ae9923a	g.chrX:153662580C>T	ENST00000369762.2	+	7	772	c.711C>T	c.(709-711)gcC>gcT	p.A237A	ATP6AP1_ENST00000484908.1_3'UTR|GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	237					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGTGGTGGCCGGAGGGCTAG	0.577																																																0													96	83	87					X																	153662580		2203	4300	6503	SO:0001819	synonymous_variant	537			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.711C>T	X.37:g.153662580C>T			A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	ENST00000369762.2	37	CCDS35451.1																																																																																				0.577	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		T	153662580	C	T	153662580	2	4	343	1	0	0	0	0	0	0	0	1	1165	639	23	1		1	ATP6AP1	23	153662580	Silent	SNP	C	TCGA-BP-4352-01A-01D-1366-10	446588	153662580	1607980	94	19843											
PLA2G2C	391013	hgsc.bcm.edu;ucsc.edu	37	1	20499305	20499305	+	Missense_Mutation	SNP	C	C	T	rs374046576		TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr1:20499305C>T	ENST00000429261.2	-	3	325	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	PLA2G2C_ENST00000247992.5_Missense_Mutation_p.V90I|PLA2G2C_ENST00000495760.2_Intron			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC	89					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCGCCATTGACGATGTGGAAC	0.517																																																0													71	72	72					1																	20499305		1977	4159	6136	SO:0001583	missense	391013					1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"phospholipase A2, group IIC (possible pseudogene)"			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.265G>A	1.37:g.20499305C>T	ENSP00000389335:p.Val89Ile		Q7M4M6	Missense_Mutation	SNP	ENST00000429261.2	37		.	.	.	.	.	.	.	.	.	.	C	4.737	0.136985	0.09032	.	.	ENSG00000187980	ENST00000429261;ENST00000247992	T;T	0.26660	1.72;1.72	5.06	-0.129	0.13502	Phospholipase A2 (3);	0.982098	0.08315	N	0.964719	T	0.20981	0.0505	L	0.47078	1.49	0.09310	N	1	B	0.22211	0.066	B	0.20955	0.032	T	0.34304	-0.9834	10	0.72032	D	0.01	.	4.6256	0.12476	0.0:0.5067:0.1517:0.3415	.	89	Q5R387	PA2GC_HUMAN	I	89;90	ENSP00000389335:V89I;ENSP00000247992:V90I	ENSP00000247992:V90I	V	-	1	0	PLA2G2C	20371892	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.629000	0.05508	-0.090000	0.12462	-0.123000	0.14984	GTC		0.517	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000007689.3	NM_001105572		T	20499305	C	T	20499305	3	4	344	1	0	0	0	0	1	0	0	0	11998	536	19	1	192	1	PLA2G2C	1	20499305	Missense_Mutation	SNP	C	TCGA-BP-4354-01A-02D-1366-10		20499305	228751316	1	19844											
SPTA1	6708	hgsc.bcm.edu;ucsc.edu	37	1	158621257	158621257	+	Splice_Site	SNP	T	T	G			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr1:158621257T>G	ENST00000368147.4	-	24	3557	c.3377A>C	c.(3376-3378)gAt>gCt	p.D1126A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1126					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTATTCAAATCCTGAATGGG	0.433																																																0													153	153	153					1																	158621257		1885	4112	5997	SO:0001630	splice_region_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3376-1A>C	1.37:g.158621257T>G			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065711	0.76187	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.69435	-0.4;-0.4	4.42	4.42	0.53409	.	.	.	.	.	T	0.79393	0.4438	M	0.87547	2.89	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.82641	-0.0357	9	0.56958	D	0.05	.	12.9547	0.58421	0.0:0.0:0.0:1.0	.	1126	P02549	SPTA1_HUMAN	A	1126	ENSP00000357130:D1126A;ENSP00000357129:D1126A	ENSP00000357129:D1126A	D	-	2	0	SPTA1	156887881	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.008000	0.76341	1.990000	0.58119	0.533000	0.62120	GAT		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	G	158621257	T	G	158621257	5	3	344	1	0	0	0	0	0	0	1	0	15121	1449	50	5	3998	5	SPTA1	1	158621257	Splice_Site	SNP	T	TCGA-BP-4354-01A-02D-1366-10	138121952	158621257	90629364	2	19845											
PRSS38	339501	hgsc.bcm.edu;ucsc.edu	37	1	228033871	228033871	+	Missense_Mutation	SNP	G	G	A	rs375623854	byFrequency	TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr1:228033871G>A	ENST00000366757.3	+	5	967	c.943G>A	c.(943-945)Gtc>Atc	p.V315I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	315						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CACTCTCAGCGTCCTAATGGC	0.567													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17109	0.0		0.0	False		,,,				2504	0.0															0								G	ILE/VAL	0,4406		0,0,2203	76	73	74		943	0.5	0	1		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRSS38	NM_183062.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	315/327	228033871	1,13005	2203	4300	6503	SO:0001583	missense	339501				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.943G>A	1.37:g.228033871G>A	ENSP00000355719:p.Val315Ile		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	1.122	-0.655132	0.03480	0.0	1.16E-4	ENSG00000185888	ENST00000366757	D	0.88509	-2.39	4.73	0.496	0.16896	.	1.188110	0.06611	N	0.755656	T	0.71151	0.3306	N	0.08118	0	0.09310	N	1	B	0.29612	0.251	B	0.14023	0.01	T	0.59878	-0.7371	10	0.02654	T	1	.	7.052	0.25079	0.4314:0.0:0.5686:0.0	.	315	A1L453	PRS38_HUMAN	I	315	ENSP00000355719:V315I	ENSP00000355719:V315I	V	+	1	0	PRSS38	226100494	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.182000	0.09726	-0.107000	0.12088	-0.222000	0.12452	GTC		0.567	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		A	228033871	G	A	228033871	3	1	344	1	0	0	0	0	1	0	0	0	12632	1145	40	1	961	1	PRSS38	1	228033871	Missense_Mutation	SNP	G	TCGA-BP-4354-01A-02D-1366-10	69412614	228033871	21216750	3	19846											
NID1	4811	hgsc.bcm.edu	37	1	236143954	236143954	+	Splice_Site	SNP	C	C	T			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr1:236143954C>T	ENST00000264187.6	-	17	3310		c.e17-1		NID1_ENST00000366595.3_Splice_Site	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1						basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GTAAAGGTTCCTGGAGGAGGA	0.433																																																0													48	52	50					1																	236143954		2203	4300	6503	SO:0001630	splice_region_variant	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3228-1G>A	1.37:g.236143954C>T			Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Splice_Site	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472370	0.63737	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6794	0.95956	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NID1	234210577	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	7.763000	0.85283	2.651000	0.90000	0.542000	0.68232	.		0.433	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	Intron	T	236143954	C	T	236143954	5	4	344	1	0	0	0	0	0	0	1	0	10416	695	24	2	532	2	NID1	1	236143954	Splice_Site	SNP	C	TCGA-BP-4354-01A-02D-1366-10	8110083	236143954	13106667	4	19847											
TNS1	7145	hgsc.bcm.edu	37	2	218683139	218683139	+	Missense_Mutation	SNP	G	G	A	rs34291329	byFrequency	TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr2:218683139G>A	ENST00000171887.4	-	24	4056	c.3604C>T	c.(3604-3606)Ccc>Tcc	p.P1202S	TNS1_ENST00000430930.1_Missense_Mutation_p.P1181S|TNS1_ENST00000419504.1_Missense_Mutation_p.P1189S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1202					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCCATGCTGGGATTGATGGCC	0.652													G|||	332	0.0662939	0.0514	0.0591	5008	,	,		16428	0.0169		0.0934	False		,,,				2504	0.1145															0								G	SER/PRO	208,4198	124.9+/-162.1	9,190,2004	53	55	54		3604	1.8	0.4	2	dbSNP_126	54	654,7946	161.9+/-214.7	27,600,3673	yes	missense	TNS1	NM_022648.4	74	36,790,5677	AA,AG,GG		7.6047,4.7208,6.6277	benign	1202/1736	218683139	862,12144	2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3604C>T	2.37:g.218683139G>A	ENSP00000171887:p.Pro1202Ser		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	119	0.05448717948717949	9	0.018292682926829267	24	0.06629834254143646	12	0.02097902097902098	74	0.09762532981530343	G	2.490	-0.317753	0.05386	0.047208	0.076047	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91011	-2.76;2.24;-2.77;-2.77	4.61	1.8	0.24995	.	0.745176	0.12454	N	0.467518	T	0.13372	0.0324	L	0.43152	1.355	0.09310	P	0.9999999999958005	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.52749	-0.8534	9	0.10636	T	0.68	.	4.9661	0.14091	0.1568:0.0:0.4276:0.4157	rs34291329	1202;1181;1189	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	S	1202;340;1189;1181	ENSP00000171887:P1202S;ENSP00000394171:P340S;ENSP00000408724:P1189S;ENSP00000406016:P1181S	ENSP00000171887:P1202S	P	-	1	0	TNS1	218391384	0.275000	0.24201	0.363000	0.25875	0.806000	0.45545	0.330000	0.19715	0.190000	0.20209	0.563000	0.77884	CCC		0.652	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		A	218683139	G	A	218683139	3	1	344	1	0	0	0	0	1	0	0	0	16348	1174	41	2	1643	2	TNS1	2	218683139	Missense_Mutation	SNP	G	TCGA-BP-4354-01A-02D-1366-10		218683139	24516234	5	19848											
CDCP1	64866	hgsc.bcm.edu	37	3	45127493	45127493	+	Silent	SNP	C	C	T			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr3:45127493C>T	ENST00000296129.1	-	9	2282	c.2148G>A	c.(2146-2148)ccG>ccA	p.P716P		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	716						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTGGCTGCCTCGGCATCTCAG	0.448																																																0													209	204	206					3																	45127493		2203	4300	6503	SO:0001819	synonymous_variant	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2148G>A	3.37:g.45127493C>T			Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	CCDS2727.1																																																																																				0.448	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		T	45127493	C	T	45127493	2	4	344	1	0	0	0	0	0	0	0	1	3095	871	31	1		1	CDCP1	3	45127493	Silent	SNP	C	TCGA-BP-4354-01A-02D-1366-10		45127493	152894937	6	19849											
LTF	4057	hgsc.bcm.edu	37	3	46480866	46480866	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr3:46480866A>T	ENST00000231751.4	-	15	2124	c.1829T>A	c.(1828-1830)cTt>cAt	p.L610H	LTF_ENST00000417439.1_Missense_Mutation_p.L608H|LTF_ENST00000426532.2_Missense_Mutation_p.L566H|LTF_ENST00000493056.1_5'UTR	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	610	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GGCCATGGCAAGATGGCAGCT	0.547																																																0													135	112	120					3																	46480866		2203	4300	6503	SO:0001583	missense	4057				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1829T>A	3.37:g.46480866A>T	ENSP00000231751:p.Leu610His		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980801	0.53827	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	H	0.98466	4.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87452	0.2402	10	0.87932	D	0	.	13.5278	0.61605	1.0:0.0:0.0:0.0	.	608;597;610	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	H	610;566;608;597	ENSP00000231751:L610H;ENSP00000405719:L566H;ENSP00000405546:L608H;ENSP00000397427:L597H	ENSP00000231751:L610H	L	-	2	0	LTF	46455870	1.000000	0.71417	0.932000	0.37286	0.025000	0.11179	7.759000	0.85235	2.241000	0.73720	0.533000	0.62120	CTT		0.547	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		T	46480866	A	T	46480866	3	4	344	1	0	0	0	0	1	0	0	0	9081	72	3	5	315	5	LTF	3	46480866	Missense_Mutation	SNP	A	TCGA-BP-4354-01A-02D-1366-10	1353373	46480866	151541564	7	19850											
CWH43	80157	hgsc.bcm.edu;ucsc.edu	37	4	49005842	49005842	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr4:49005842G>T	ENST00000226432.4	+	7	1076	c.893G>T	c.(892-894)tGg>tTg	p.W298L	CWH43_ENST00000513409.1_Missense_Mutation_p.W271L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	298					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCATCCATGTGGCCCCAAACA	0.478																																																0													108	92	98					4																	49005842		2203	4300	6503	SO:0001583	missense	80157				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.893G>T	4.37:g.49005842G>T	ENSP00000226432:p.Trp298Leu		B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215363	0.39102	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.42131	1.57;0.98	3.91	3.91	0.45181	.	0.000000	0.50627	D	0.000103	T	0.59376	0.2189	M	0.67953	2.075	0.44871	D	0.997887	D	0.69078	0.997	D	0.65140	0.932	T	0.60692	-0.7213	9	.	.	.	.	15.3556	0.74425	0.0:0.0:1.0:0.0	.	298	Q9H720	PG2IP_HUMAN	L	298;271	ENSP00000226432:W298L;ENSP00000422802:W271L	.	W	+	2	0	CWH43	48700599	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	5.830000	0.69324	2.480000	0.83734	0.591000	0.81541	TGG		0.478	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		T	49005842	G	T	49005842	3	4	344	1	0	0	0	0	1	0	0	0	4075	1357	47	4	919	4	CWH43	4	49005842	Missense_Mutation	SNP	G	TCGA-BP-4354-01A-02D-1366-10		49005842	142148434	8	19851											
GRIA2	2891	hgsc.bcm.edu;ucsc.edu	37	4	158254482	158254482	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr4:158254482C>A	ENST00000264426.9	+	8	1411	c.1132C>A	c.(1132-1134)Ctc>Atc	p.L378I	GRIA2_ENST00000296526.7_Missense_Mutation_p.L378I|GRIA2_ENST00000449365.1_Missense_Mutation_p.L331I|GRIA2_ENST00000507898.1_Missense_Mutation_p.L331I|GRIA2_ENST00000393815.2_Missense_Mutation_p.L331I	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	378					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CATCATGGAGCTCAAAACTAA	0.393																																																0													41	44	43					4																	158254482		2200	4294	6494	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1132C>A	4.37:g.158254482C>A	ENSP00000264426:p.Leu378Ile		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707072	0.68615	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.42	4.58	0.56647	.	0.000000	0.64402	D	0.000001	T	0.48059	0.1479	L	0.61218	1.895	0.58432	D	0.999998	P;D;D	0.56035	0.938;0.974;0.968	D;D;D	0.80764	0.937;0.911;0.994	T	0.49844	-0.8896	10	0.87932	D	0	.	13.8866	0.63712	0.0:0.9266:0.0:0.0734	.	378;378;331	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	I	331;331;378;378;331	ENSP00000426845:L331I;ENSP00000377403:L331I;ENSP00000296526:L378I;ENSP00000264426:L378I;ENSP00000389837:L331I	ENSP00000264426:L378I	L	+	1	0	GRIA2	158473932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.203000	0.51075	1.282000	0.44496	0.650000	0.86243	CTC		0.393	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			A	158254482	C	A	158254482	3	1	344	1	0	0	0	0	1	0	0	0	6770	797	28	4	1162	4	GRIA2	4	158254482	Missense_Mutation	SNP	C	TCGA-BP-4354-01A-02D-1366-10	109248640	158254482	32899794	9	19852											
APC	324	hgsc.bcm.edu	37	5	112177788	112177788	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr5:112177788G>T	ENST00000457016.1	+	16	6877	c.6497G>T	c.(6496-6498)cGa>cTa	p.R2166L	APC_ENST00000508376.2_Missense_Mutation_p.R2166L|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.R2166L			P25054	APC_HUMAN	adenomatous polyposis coli	2166	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGGCCCACGAATTCTAAAA	0.348		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)											45	50	48					5																	112177788		2193	4295	6488	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6497G>T	5.37:g.112177788G>T	ENSP00000413133:p.Arg2166Leu		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776527	0.49786	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.91237	-2.81;-2.81;-2.81	6.02	6.02	0.97574	.	0.050983	0.85682	D	0.000000	D	0.89230	0.6656	L	0.38175	1.15	0.47778	D	0.999513	P;P	0.51653	0.947;0.947	P;P	0.50590	0.645;0.571	D	0.87474	0.2416	9	.	.	.	-12.4976	13.6966	0.62582	0.07:0.0:0.93:0.0	.	2168;2166	Q4LE70;P25054	.;APC_HUMAN	L	2166	ENSP00000413133:R2166L;ENSP00000257430:R2166L;ENSP00000427089:R2166L	.	R	+	2	0	APC	112205687	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.416000	0.66417	2.857000	0.98124	0.650000	0.86243	CGA		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		T	112177788	G	T	112177788	3	4	344	1	0	0	0	0	1	0	0	0	763	1058	37	4	6555	4	APC	5	112177788	Missense_Mutation	SNP	G	TCGA-BP-4354-01A-02D-1366-10		112177788	68737472	10	19853											
EGFR	1956	hgsc.bcm.edu	37	7	55259455	55259455	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr7:55259455T>C	ENST00000275493.2	+	21	2690	c.2513T>C	c.(2512-2514)cTg>cCg	p.L838P	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L793P|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Missense_Mutation_p.L785P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> V (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L838P(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CACCGCGACCTGGCAGCCAGG	0.537		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	3	Substitution - Missense(3)	lung(3)											116	101	106					7																	55259455		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2513T>C	7.37:g.55259455T>C	ENSP00000275493:p.Leu838Pro		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.759672	0.89932	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.74842	-0.88;-0.88;-0.88	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92185	0.7522	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95204	0.8319	10	0.87932	D	0	.	15.0046	0.71501	0.0:0.0:0.0:1.0	.	793;838	Q504U8;P00533	.;EGFR_HUMAN	P	793;708;838;785	ENSP00000415559:L793P;ENSP00000275493:L838P;ENSP00000395243:L785P	ENSP00000275493:L838P	L	+	2	0	EGFR	55226949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.911000	0.87458	2.221000	0.72209	0.528000	0.53228	CTG		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		C	55259455	T	C	55259455	3	2	344	1	0	0	0	0	1	0	0	0	4969	1580	55	3	2859	3	EGFR	7	55259455	Missense_Mutation	SNP	T	TCGA-BP-4354-01A-02D-1366-10		55259455	103879208	11	19854											
RP1	6101	hgsc.bcm.edu	37	8	55540233	55540233	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr8:55540233T>C	ENST00000220676.1	+	4	3939	c.3791T>C	c.(3790-3792)gTa>gCa	p.V1264A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1264					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.V1264E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGTGCACTGTAAATAAGGCT	0.448																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	ovary(1)											155	149	151					8																	55540233		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3791T>C	8.37:g.55540233T>C	ENSP00000220676:p.Val1264Ala			Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296391	0.23650	.	.	ENSG00000104237	ENST00000220676	T	0.26810	1.71	4.85	-1.77	0.07982	.	0.812859	0.10623	N	0.653167	T	0.14830	0.0358	L	0.34521	1.04	0.09310	N	1	B	0.25667	0.131	B	0.25140	0.058	T	0.33394	-0.9870	10	0.87932	D	0	.	0.756	0.00999	0.1701:0.2926:0.1758:0.3615	.	1264	P56715	RP1_HUMAN	A	1264	ENSP00000220676:V1264A	ENSP00000220676:V1264A	V	+	2	0	RP1	55702786	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.015000	0.13355	-0.168000	0.10853	-0.256000	0.11100	GTA		0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		C	55540233	T	C	55540233	3	2	344	1	0	0	0	0	1	0	0	0	13538	1638	57	3	3801	3	RP1	8	55540233	Missense_Mutation	SNP	T	TCGA-BP-4354-01A-02D-1366-10		55540233	90823789	12	19855											
CPSF1	29894	hgsc.bcm.edu	37	8	145623779	145623779	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr8:145623779G>T	ENST00000349769.3	-	19	1901	c.1807C>A	c.(1807-1809)Cag>Aag	p.Q603K	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	603					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTGGGGCCCTGAGTGGCGAAG	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)											0													86	92	90					8																	145623779		2203	4300	6503	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1807C>A	8.37:g.145623779G>T	ENSP00000339353:p.Gln603Lys		Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185955	0.78789	.	.	ENSG00000071894	ENST00000349769	T	0.41065	1.01	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.72118	2.19	0.58432	D	0.999998	B	0.28258	0.205	B	0.29440	0.102	T	0.33163	-0.9879	10	0.18710	T	0.47	-14.4254	17.2111	0.86930	0.0:0.0:1.0:0.0	.	603	Q10570	CPSF1_HUMAN	K	603	ENSP00000339353:Q603K	ENSP00000339353:Q603K	Q	-	1	0	CPSF1	145594587	1.000000	0.71417	0.974000	0.42286	0.958000	0.62258	8.514000	0.90545	2.658000	0.90341	0.655000	0.94253	CAG		0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		T	145623779	G	T	145623779	3	4	344	1	0	0	0	0	1	0	0	0	3826	1299	45	4	2604	4	CPSF1	8	145623779	Missense_Mutation	SNP	G	TCGA-BP-4354-01A-02D-1366-10	90083546	145623779	740243	13	19856											
FBXO10	26267	hgsc.bcm.edu	37	9	37537374	37537374	+	Silent	SNP	T	T	A	rs186419638		TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr9:37537374T>A	ENST00000432825.2	-	3	1200	c.1152A>T	c.(1150-1152)gtA>gtT	p.V384V	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	384					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGCCCCCCAATACAGGGCGTG	0.587																																																0													18	21	20					9																	37537374		2039	4167	6206	SO:0001819	synonymous_variant	26267			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1152A>T	9.37:g.37537374T>A			Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	CCDS47966.1																																																																																				0.587	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			A	37537374	T	A	37537374	2	1	344	1	0	0	0	0	0	0	0	1	5728	1393	49	5		5	FBXO10	9	37537374	Silent	SNP	T	TCGA-BP-4354-01A-02D-1366-10		37537374	103676057	14	19857											
DNHD1	144132	hgsc.bcm.edu	37	11	6567893	6567893	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr11:6567893G>C	ENST00000527990.2	+	19	5724	c.5724G>C	c.(5722-5724)gaG>gaC	p.E1908D	DNHD1_ENST00000254579.6_Missense_Mutation_p.E1908D			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1908					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCATTGAGGAGGCTGCCCTAC	0.557																																																0													46	40	41					11																	6567893		692	1590	2282	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.5724G>C	11.37:g.6567893G>C	ENSP00000436180:p.Glu1908Asp		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.406220	0.42715	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.26810	1.71;1.71	4.96	3.1	0.35709	.	0.057663	0.64402	D	0.000003	T	0.40956	0.1138	M	0.63843	1.955	0.34907	D	0.747083	D	0.76494	0.999	D	0.78314	0.991	T	0.49133	-0.8971	10	0.13108	T	0.6	.	10.3013	0.43654	0.1617:0.0:0.8383:0.0	.	1908	Q96M86	DNHD1_HUMAN	D	1908;1908;199	ENSP00000254579:E1908D;ENSP00000436180:E1908D	ENSP00000254579:E1908D	E	+	3	2	DNHD1	6524469	1.000000	0.71417	0.863000	0.33907	0.950000	0.60333	2.474000	0.45154	0.692000	0.31613	0.655000	0.94253	GAG		0.557	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6567893	G	C	6567893	3	2	344	1	0	0	0	0	1	0	0	0	4670	991	35	4	5807	4	DNHD1	11	6567893	Missense_Mutation	SNP	G	TCGA-BP-4354-01A-02D-1366-10		6567893	128438623	15	19858											
ST3GAL4	6484	hgsc.bcm.edu;ucsc.edu	37	11	126283465	126283465	+	Silent	SNP	C	C	T	rs374972599		TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr11:126283465C>T	ENST00000526727.1	+	9	1211	c.837C>T	c.(835-837)gcC>gcT	p.A279A	ST3GAL4_ENST00000534083.1_Silent_p.A279A|ST3GAL4_ENST00000534457.1_Silent_p.A274A|ST3GAL4_ENST00000227495.6_Silent_p.A275A|ST3GAL4_ENST00000444328.2_Silent_p.A279A|ST3GAL4_ENST00000532243.1_Silent_p.A278A|ST3GAL4_ENST00000530591.1_Silent_p.A275A|ST3GAL4_ENST00000356132.4_Silent_p.A285A|ST3GAL4_ENST00000449406.2_Silent_p.A268A|ST3GAL4_ENST00000392669.2_Silent_p.A279A			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	279					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TGCACATTGCCGGCTTTGGCT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		16872	0.0		0.001	False		,,,				2504	0.0															0								C		0,4402		0,0,2201	106	93	97		825	-10.7	0.1	11		97	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	ST3GAL4	NM_006278.1		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		275/330	126283465	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	6484			X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.837C>T	11.37:g.126283465C>T			A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Silent	SNP	ENST00000526727.1	37	CCDS58193.1																																																																																				0.582	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		T	126283465	C	T	126283465	2	4	344	1	0	0	0	0	0	0	0	1	15222	639	23	1		1	ST3GAL4	11	126283465	Silent	SNP	C	TCGA-BP-4354-01A-02D-1366-10	119715572	126283465	8723051	16	19859											
ETNK1	55500	hgsc.bcm.edu;ucsc.edu	37	12	22826447	22826447	+	Silent	SNP	A	A	G			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr12:22826447A>G	ENST00000266517.4	+	6	1154	c.1065A>G	c.(1063-1065)gtA>gtG	p.V355V		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	355					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGAGTGATGTAGACTATAGTC	0.363																																					Esophageal Squamous(42;87 913 3224 6226 43339)											0													82	82	82					12																	22826447		2203	4300	6503	SO:0001819	synonymous_variant	55500			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.1065A>G	12.37:g.22826447A>G			G5E969	Silent	SNP	ENST00000266517.4	37	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	A	8.894	0.954641	0.18431	.	.	ENSG00000139163	ENST00000538218	.	.	.	4.91	0.0566	0.14319	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.2245	7.6463	0.28323	0.6565:0.0:0.3435:0.0	.	.	.	.	W	346	.	.	X	+	2	0	ETNK1	22717714	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.213000	0.42844	-0.013000	0.14199	0.477000	0.44152	TAG		0.363	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		G	22826447	A	G	22826447	2	3	344	1	0	0	0	0	0	0	0	1	5275	407	15	3		3	ETNK1	12	22826447	Silent	SNP	A	TCGA-BP-4354-01A-02D-1366-10		22826447	111025448	17	19860											
ADAMTS20	80070	hgsc.bcm.edu;ucsc.edu	37	12	43777460	43777460	+	Silent	SNP	C	C	A			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr12:43777460C>A	ENST00000389420.3	-	31	4697	c.4698G>T	c.(4696-4698)gtG>gtT	p.V1566V		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1566	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTATTTCATTCACTTGTCTGA	0.368																																																0													150	139	142					12																	43777460		2203	4300	6503	SO:0001819	synonymous_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4698G>T	12.37:g.43777460C>A			A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																				0.368	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43777460	C	A	43777460	2	1	344	1	0	0	0	0	0	0	0	1	266	813	29	4		4	ADAMTS20	12	43777460	Silent	SNP	C	TCGA-BP-4354-01A-02D-1366-10	20951013	43777460	90074435	18	19861											
SHMT2	6472	hgsc.bcm.edu	37	12	57627119	57627119	+	Silent	SNP	C	C	A			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr12:57627119C>A	ENST00000328923.3	+	8	1466	c.1014C>A	c.(1012-1014)gcC>gcA	p.A338A	SHMT2_ENST00000393827.4_Silent_p.A242A|SHMT2_ENST00000553474.1_Silent_p.A317A|SHMT2_ENST00000557487.1_Silent_p.A328A|SHMT2_ENST00000414700.3_Silent_p.A317A|SHMT2_ENST00000449049.3_Silent_p.A317A	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	338					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TAGCTGTGGCCCTAAAGCAGG	0.572																																					Esophageal Squamous(150;1369 2416 49071 49364)											0													42	44	44					12																	57627119		2203	4300	6503	SO:0001819	synonymous_variant	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.1014C>A	12.37:g.57627119C>A			B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Silent	SNP	ENST00000328923.3	37	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	3.473	-0.107618	0.06924	.	.	ENSG00000182199	ENST00000557529	.	.	.	4.62	-0.695	0.11291	.	.	.	.	.	T	0.41190	0.1148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24119	-1.0169	4	.	.	.	-0.2111	1.5886	0.02649	0.1404:0.2942:0.1376:0.4278	.	.	.	.	T	138	.	.	P	+	1	0	SHMT2	55913386	0.009000	0.17119	0.989000	0.46669	0.395000	0.30598	-1.027000	0.03592	-0.223000	0.09943	-0.291000	0.09656	CCT		0.572	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		A	57627119	C	A	57627119	2	1	344	1	0	0	0	0	0	0	0	1	14292	610	22	4		4	SHMT2	12	57627119	Silent	SNP	C	TCGA-BP-4354-01A-02D-1366-10	13849659	57627119	76224776	19	19862											
HCFC2	29915	hgsc.bcm.edu;ucsc.edu	37	12	104461864	104461864	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr12:104461864A>C	ENST00000229330.4	+	3	556	c.452A>C	c.(451-453)gAt>gCt	p.D151A		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	151					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GAAAGCGAAGATTCAAACAAT	0.368																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)											0													165	160	162					12																	104461864		2203	4300	6503	SO:0001583	missense	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.452A>C	12.37:g.104461864A>C	ENSP00000229330:p.Asp151Ala		B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492859	0.84962	.	.	ENSG00000111727	ENST00000229330;ENST00000550444	T;T	0.73047	-0.71;-0.32	5.45	5.45	0.79879	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.87253	0.6131	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89836	0.3999	10	0.62326	D	0.03	-25.4308	15.7993	0.78439	1.0:0.0:0.0:0.0	.	151	Q9Y5Z7	HCFC2_HUMAN	A	151;62	ENSP00000229330:D151A;ENSP00000447952:D62A	ENSP00000229330:D151A	D	+	2	0	HCFC2	102985994	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.197000	0.70478	0.402000	0.26972	GAT		0.368	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		C	104461864	A	C	104461864	3	2	344	1	0	0	0	0	1	0	0	0	6995	333	12	5	462	5	HCFC2	12	104461864	Missense_Mutation	SNP	A	TCGA-BP-4354-01A-02D-1366-10	46834745	104461864	29390031	20	19863											
SLC10A2	6555	hgsc.bcm.edu	37	13	103718249	103718249	+	Nonsense_Mutation	SNP	A	A	T	rs200030539		TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr13:103718249A>T	ENST00000245312.3	-	1	947	c.351T>A	c.(349-351)taT>taA	p.Y117*		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	117					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	CATCGACCCAATAGGCCAAGA	0.502																																																0													85	81	83					13																	103718249		2203	4300	6503	SO:0001587	stop_gained	6555			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.351T>A	13.37:g.103718249A>T	ENSP00000245312:p.Tyr117*		A1L4F4|Q13839	Nonsense_Mutation	SNP	ENST00000245312.3	37	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	A	42	9.283170	0.99123	.	.	ENSG00000125255	ENST00000245312	.	.	.	5.25	-5.04	0.02964	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2304	18.5105	0.90914	0.1518:0.0:0.8482:0.0	.	.	.	.	X	117	.	ENSP00000245312:Y117X	Y	-	3	2	SLC10A2	102516250	0.997000	0.39634	0.956000	0.39512	0.897000	0.52465	0.477000	0.22196	-0.889000	0.03950	-0.256000	0.11100	TAT		0.502	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			T	103718249	A	T	103718249	4	4	344	1	0	0	0	0	0	1	0	0	14380	108	4	5	719	5	SLC10A2	13	103718249	Nonsense_Mutation	SNP	A	TCGA-BP-4354-01A-02D-1366-10		103718249	11451629	21	19864											
TGM1	7051	hgsc.bcm.edu	37	14	24729679	24729679	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr14:24729679A>G	ENST00000206765.6	-	4	857	c.734T>C	c.(733-735)aTc>aCc	p.I245T	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	245					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GTTGAAGAGGATGTAGATCTC	0.592																																																0													91	80	84					14																	24729679		2203	4300	6503	SO:0001583	missense	7051			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.734T>C	14.37:g.24729679A>G	ENSP00000206765:p.Ile245Thr		B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493256	0.84962	.	.	ENSG00000092295	ENST00000206765	D	0.88509	-2.39	5.49	5.49	0.81192	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.139879	0.64402	D	0.000007	D	0.91250	0.7242	M	0.76328	2.33	0.80722	D	1	P	0.52842	0.956	P	0.50082	0.63	D	0.92385	0.5916	10	0.87932	D	0	-34.1866	14.7155	0.69265	1.0:0.0:0.0:0.0	.	245	P22735	TGM1_HUMAN	T	245	ENSP00000206765:I245T	ENSP00000206765:I245T	I	-	2	0	TGM1	23799519	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.564000	0.90726	2.311000	0.77944	0.533000	0.62120	ATC		0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		G	24729679	A	G	24729679	3	3	344	1	0	0	0	0	1	0	0	0	15834	333	12	3	1767	3	TGM1	14	24729679	Missense_Mutation	SNP	A	TCGA-BP-4354-01A-02D-1366-10		24729679	82619861	22	19865											
HERC1	8925	hgsc.bcm.edu;ucsc.edu	37	15	64005710	64005710	+	Silent	SNP	C	C	T			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr15:64005710C>T	ENST00000443617.2	-	23	4392	c.4305G>A	c.(4303-4305)caG>caA	p.Q1435Q	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1435					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGTACACATCCTGACCCTCAG	0.522																																																0													98	96	97					15																	64005710		2101	4225	6326	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4305G>A	15.37:g.64005710C>T			Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.522	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		T	64005710	C	T	64005710	2	4	344	1	0	0	0	0	0	0	0	1	7059	680	24	2		2	HERC1	15	64005710	Silent	SNP	C	TCGA-BP-4354-01A-02D-1366-10		64005710	38525682	23	19866											
CASKIN1	57524	hgsc.bcm.edu	37	16	2236740	2236740	+	Missense_Mutation	SNP	G	G	A	rs141907746		TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr16:2236740G>A	ENST00000343516.6	-	10	1108	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	339	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.S339F(1)|p.S168F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCCAGGGAGGACGGGAAGTA	0.667																																																2	Substitution - Missense(2)	skin(2)											35	40	39					16																	2236740		2012	4159	6171	SO:0001583	missense	57524			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1016C>T	16.37:g.2236740G>A	ENSP00000345436:p.Ser339Phe		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239138	0.58995	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.10099	2.91	4.65	4.65	0.58169	Src homology-3 domain (3);Variant SH3 (1);	.	.	.	.	T	0.28466	0.0704	L	0.50847	1.595	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.01010	-1.1482	9	0.87932	D	0	-31.5331	16.6164	0.84917	0.0:0.0:1.0:0.0	.	339	Q8WXD9	CSKI1_HUMAN	F	339;168	ENSP00000345436:S339F	ENSP00000345436:S339F	S	-	2	0	CASKIN1	2176741	1.000000	0.71417	0.859000	0.33776	0.640000	0.38277	9.514000	0.98013	2.577000	0.86979	0.563000	0.77884	TCC		0.667	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		A	2236740	G	A	2236740	3	1	344	1	0	0	0	0	1	0	0	0	2668	1174	41	2	3323	2	CASKIN1	16	2236740	Missense_Mutation	SNP	G	TCGA-BP-4354-01A-02D-1366-10		2236740	88118013	24	19867											
BCAS3	54828	hgsc.bcm.edu;ucsc.edu	37	17	58952032	58952032	+	Silent	SNP	C	C	A			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr17:58952032C>A	ENST00000390652.5	+	9	625	c.594C>A	c.(592-594)gtC>gtA	p.V198V	BCAS3_ENST00000408905.3_Silent_p.V198V|BCAS3_ENST00000589222.1_Silent_p.V198V|BCAS3_ENST00000407086.3_Silent_p.V198V|BCAS3_ENST00000588462.1_Silent_p.V198V	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GGATCCTTGTCGTAGTCTTGC	0.328																																																0													97	89	91					17																	58952032		1816	4078	5894	SO:0001819	synonymous_variant	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.594C>A	17.37:g.58952032C>A				Silent	SNP	ENST00000390652.5	37	CCDS45749.1																																																																																				0.328	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		A	58952032	C	A	58952032	2	1	344	1	0	0	0	0	0	0	0	1	1352	871	31	4		4	BCAS3	17	58952032	Silent	SNP	C	TCGA-BP-4354-01A-02D-1366-10		58952032	22243178	25	19868											
MUC16	94025	hgsc.bcm.edu	37	19	9085330	9085330	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr19:9085330T>C	ENST00000397910.4	-	1	6688	c.6485A>G	c.(6484-6486)gAg>gGg	p.E2162G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2162	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCAGTACTCTCAGATGTAAG	0.473																																																0													57	56	56					19																	9085330		1916	4126	6042	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6485A>G	19.37:g.9085330T>C	ENSP00000381008:p.Glu2162Gly		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.274	-0.366237	0.05069	.	.	ENSG00000181143	ENST00000397910	T	0.02787	4.16	0.495	0.495	0.16890	.	.	.	.	.	T	0.03739	0.0106	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.59546	0.859	T	0.45977	-0.9224	7	0.87932	D	0	.	.	.	.	.	2162	B5ME49	.	G	2162	ENSP00000381008:E2162G	ENSP00000381008:E2162G	E	-	2	0	MUC16	8946330	0.032000	0.19561	0.032000	0.17829	0.043000	0.13939	0.781000	0.26774	0.424000	0.26061	0.260000	0.18958	GAG		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9085330	T	C	9085330	3	2	344	1	0	0	0	0	1	0	0	0	9975	1551	54	3	37374	3	MUC16	19	9085330	Missense_Mutation	SNP	T	TCGA-BP-4354-01A-02D-1366-10		9085330	50043653	26	19869											
SYT5	6861	hgsc.bcm.edu	37	19	55690359	55690359	+	Silent	SNP	G	G	A			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr19:55690359G>A	ENST00000354308.3	-	2	420	c.51C>T	c.(49-51)ccC>ccT	p.P17P	SYT5_ENST00000590851.1_Missense_Mutation_p.P72L|SYT5_ENST00000537500.1_Silent_p.P17P|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	17					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GACTGGAGTCGGGAGGCGTGT	0.677																																																0													17	24	21					19																	55690359		2200	4295	6495	SO:0001819	synonymous_variant	6861			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.51C>T	19.37:g.55690359G>A			B3KWJ8|B7Z300|Q86X72	Silent	SNP	ENST00000354308.3	37	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	0.191	-1.053533	0.01965	.	.	ENSG00000129990	ENST00000543844	.	.	.	3.54	-7.09	0.01553	.	0.184523	0.32852	U	0.005563	T	0.32675	0.0837	.	.	.	0.42411	D	0.992601	B	0.02656	0.0	B	0.01281	0.0	T	0.59700	-0.7405	8	0.29301	T	0.29	.	1.1412	0.01766	0.1036:0.341:0.2207:0.3347	.	72	B7Z300	.	L	72	.	ENSP00000441336:P72L	P	-	2	0	SYT5	60382171	0.000000	0.05858	0.018000	0.16275	0.067000	0.16453	-6.802000	0.00053	-5.364000	0.00016	-1.211000	0.01629	CCG		0.677	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		A	55690359	G	A	55690359	2	1	344	1	0	0	0	0	0	0	0	1	15482	1103	39	1		1	SYT5	19	55690359	Silent	SNP	G	TCGA-BP-4354-01A-02D-1366-10	46605029	55690359	3438624	27	19870											
LAMA5	3911	hgsc.bcm.edu	37	20	60906109	60906109	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr20:60906109T>C	ENST00000252999.3	-	29	3695	c.3629A>G	c.(3628-3630)cAc>cGc	p.H1210R	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1210	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AAAGGCGCCGTGGCTGCTGAT	0.682																																																0													21	24	23					20																	60906109		2196	4299	6495	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3629A>G	20.37:g.60906109T>C	ENSP00000252999:p.His1210Arg		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.037733	0.54896	.	.	ENSG00000130702	ENST00000252999	T	0.18502	2.21	5.08	5.08	0.68730	.	0.000000	0.85682	U	0.000000	T	0.38532	0.1044	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.15752	-1.0426	10	0.62326	D	0.03	.	14.8135	0.70013	0.0:0.0:0.0:1.0	.	1210	O15230	LAMA5_HUMAN	R	1210	ENSP00000252999:H1210R	ENSP00000252999:H1210R	H	-	2	0	LAMA5	60339504	1.000000	0.71417	0.233000	0.24025	0.008000	0.06430	6.055000	0.71103	1.905000	0.55150	0.402000	0.26972	CAC		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		C	60906109	T	C	60906109	3	2	344	1	0	0	0	0	1	0	0	0	8611	1696	59	3	7666	3	LAMA5	20	60906109	Missense_Mutation	SNP	T	TCGA-BP-4354-01A-02D-1366-10		60906109	2119411	28	19871											
USP18	11274	hgsc.bcm.edu	37	22	18640560	18640560	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chr22:18640560C>A	ENST00000215794.7	+	2	560	c.130C>A	c.(130-132)Cgt>Agt	p.R44S		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	44					cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GCCCAGAGAGCGTCCCAGGGC	0.547																																																0													111	109	110					22																	18640560		2203	4300	6503	SO:0001583	missense	11274			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.130C>A	22.37:g.18640560C>A	ENSP00000215794:p.Arg44Ser		Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	CCDS13752.1	.	.	.	.	.	.	.	.	.	.	.	5.414	0.261530	0.10239	.	.	ENSG00000184979	ENST00000215794	T	0.06528	3.29	4.48	0.953	0.19590	.	2.692560	0.00941	N	0.002826	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38200	-0.9672	10	0.12766	T	0.61	.	5.212	0.15322	0.1989:0.6591:0.0:0.142	.	44	Q9UMW8	UBP18_HUMAN	S	44	ENSP00000215794:R44S	ENSP00000215794:R44S	R	+	1	0	USP18	17020560	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.183000	0.03079	0.119000	0.18210	0.591000	0.81541	CGT		0.547	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			A	18640560	C	A	18640560	3	1	344	1	0	0	0	0	1	0	0	0	17054	768	27	4	132	4	USP18	22	18640560	Missense_Mutation	SNP	C	TCGA-BP-4354-01A-02D-1366-10		18640560	32664006	29	19872											
NRK	203447	hgsc.bcm.edu;ucsc.edu	37	X	105197102	105197102	+	Silent	SNP	G	G	A			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chrX:105197102G>A	ENST00000243300.9	+	28	4893	c.4590G>A	c.(4588-4590)ctG>ctA	p.L1530L	NRK_ENST00000540278.1_Silent_p.L111L|NRK_ENST00000428173.2_Silent_p.L1531L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1530	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCAGGGTTCTGGAAAGTGAGC	0.458										HNSCC(51;0.14)																																						0													49	49	49					X																	105197102		1882	4108	5990	SO:0001819	synonymous_variant	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4590G>A	X.37:g.105197102G>A			Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37																																																																																					0.458	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		A	105197102	G	A	105197102	2	1	344	1	0	0	0	0	0	0	0	1	10657	1335	47	2		2	NRK	23	105197102	Silent	SNP	G	TCGA-BP-4354-01A-02D-1366-10		105197102	50073458	30	19873											
GABRQ	55879	hgsc.bcm.edu;ucsc.edu	37	X	151808916	151808916	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4354-01A-02D-1366-10	TCGA-BP-4354-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	48897095-d6f8-481a-9dfb-b1d1e6b4c723	ee2d7355-8f21-4626-9979-9dcf6d03a88e	g.chrX:151808916C>T	ENST00000370306.2	+	2	247	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	76					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGCCTGAGACCGAATTTTGGA	0.468																																																0													149	127	134					X																	151808916		2203	4300	6503	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.227C>T	X.37:g.151808916C>T	ENSP00000359329:p.Pro76Leu		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685364	0.68157	.	.	ENSG00000147402	ENST00000370306;ENST00000333733	D	0.94966	-3.57	4.45	4.45	0.53987	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.38663	N	0.001609	D	0.97489	0.9178	M	0.92122	3.275	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.97530	1.0079	10	0.51188	T	0.08	.	11.3403	0.49529	0.0:1.0:0.0:0.0	.	76	Q9UN88	GBRT_HUMAN	L	76;71	ENSP00000359329:P76L	ENSP00000331410:P71L	P	+	2	0	GABRQ	151559572	0.997000	0.39634	0.931000	0.37212	0.837000	0.47467	4.668000	0.61568	2.051000	0.60960	0.529000	0.55759	CCG		0.468	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		T	151808916	C	T	151808916	3	4	344	1	0	0	0	0	1	0	0	0	6177	652	23	1	233	1	GABRQ	23	151808916	Missense_Mutation	SNP	C	TCGA-BP-4354-01A-02D-1366-10	46611814	151808916	3461644	31	19874											
VHL	7428	hgsc.bcm.edu	37	3	10183748	10183748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4355-01A-01W-1362-10	TCGA-BP-4355-11A-01W-1363-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	e183f6ca-cc02-42ce-85ba-cad6e78f9f40	9d979529-ef8a-4af7-839e-ae8e4dca629f	g.chr3:10183748C>T	ENST00000256474.2	+	1	1057	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	VHL_ENST00000345392.2_Nonsense_Mutation_p.Q73*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	73			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q73*(5)|p.Q73fs*86(2)|p.E70fs*85(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S72>?(1)|p.P71fs*56(1)|p.V74fs*58(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGAGCCCTCCCAGGTCATCTT	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	16	Deletion - Frameshift(7)|Substitution - Nonsense(5)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)	kidney(15)|soft_tissue(1)	GRCh37	CM951269|HD971372	VHL	D|M							10	13	12					3																	10183748		2149	4222	6371	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.217C>T	3.37:g.10183748C>T	ENSP00000256474:p.Gln73*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	36	5.850028	0.97023	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.43	4.37	0.52481	.	0.577737	0.18941	N	0.126935	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-4.8227	12.3925	0.55366	0.0:0.9041:0.0:0.0959	.	.	.	.	X	73	.	ENSP00000256474:Q73X	Q	+	1	0	VHL	10158748	0.804000	0.28969	1.000000	0.80357	0.981000	0.71138	1.185000	0.32065	2.558000	0.86282	0.550000	0.68814	CAG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183748	C	T	10183748	4	4	345	1	0	0	0	0	0	1	0	0	17167	595	21	2	219	2	VHL	3	10183748	Nonsense_Mutation	SNP	C	TCGA-BP-4355-01A-01W-1362-10		10183748	187838682	1	19875											
ST6GALNAC3	256435	hgsc.bcm.edu;ucsc.edu	37	1	77094396	77094396	+	Missense_Mutation	SNP	G	G	A	rs199754738		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr1:77094396G>A	ENST00000328299.3	+	5	971	c.823G>A	c.(823-825)Ggg>Agg	p.G275R		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	275					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGCCCCATATGGGGGTCATAG	0.378													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20355	0.0		0.0	False		,,,				2504	0.0															0													123	126	125					1																	77094396		2203	4298	6501	SO:0001583	missense	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.823G>A	1.37:g.77094396G>A	ENSP00000329214:p.Gly275Arg		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	CCDS672.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	19.35	3.811002	0.70797	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.33438	1.41	5.3	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	M	0.87038	2.855	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.87578	0.989;0.998	T	0.63959	-0.6519	10	0.59425	D	0.04	-26.7341	15.7505	0.77983	0.0:0.0:0.8625:0.1375	.	174;275	B4DM98;Q8NDV1	.;SIA7C_HUMAN	R	275;274;173	ENSP00000329214:G275R	ENSP00000329214:G275R	G	+	1	0	ST6GALNAC3	76866984	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	9.398000	0.97281	1.360000	0.45960	0.645000	0.84053	GGG		0.378	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		A	77094396	G	A	77094396	3	1	346	1	0	0	0	0	1	0	0	0	15230	1348	47	2	855	2	ST6GALNAC3	1	77094396	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10		77094396	172156225	1	19876											
AGL	178	hgsc.bcm.edu;ucsc.edu	37	1	100343224	100343225	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr1:100343224_100343225insTA	ENST00000294724.4	+	12	1929_1930	c.1451_1452insTA	c.(1450-1455)cttattfs	p.LI484fs	AGL_ENST00000370161.2_Frame_Shift_Ins_p.LI468fs|AGL_ENST00000370165.3_Frame_Shift_Ins_p.LI484fs|AGL_ENST00000370163.3_Frame_Shift_Ins_p.LI484fs|AGL_ENST00000361522.4_Frame_Shift_Ins_p.LI467fs|AGL_ENST00000361302.3_Frame_Shift_Ins_p.LI468fs|AGL_ENST00000361915.3_Frame_Shift_Ins_p.LI484fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	484					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGGAGAGAACTTATTTGCTGGG	0.366																																																0																																										SO:0001589	frameshift_variant	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1452_1453dupTA	1.37:g.100343225_100343226dupTA	ENSP00000294724:p.Leu484fs		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Frame_Shift_Ins	INS	ENST00000294724.4	37	CCDS759.1																																																																																				0.366	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		TA	100343225	-	TA	100343224	7	5	346	1	0	1	1	0	0	0	0	0	384	1609	56	0	1562	0	AGL	1	100343224	Frame_Shift_Ins	INS	-	TCGA-BP-4756-01A-01D-1366-10	23248828	100343224	148907397	2	19877											
MAGI3	260425	hgsc.bcm.edu;ucsc.edu	37	1	114157263	114157263	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr1:114157263T>A	ENST00000307546.9	+	7	1134	c.1059T>A	c.(1057-1059)taT>taA	p.Y353*	MAGI3_ENST00000369615.1_Nonsense_Mutation_p.Y353*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.Y353*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.Y353*	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	353	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCTCAGTATGGGACATACT	0.358																																																0													108	114	112					1																	114157263		2203	4300	6503	SO:0001587	stop_gained	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1059T>A	1.37:g.114157263T>A	ENSP00000304604:p.Tyr353*		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Nonsense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	T	38	7.225246	0.98146	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	.	.	.	5.77	2.17	0.27698	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.9265	9.7861	0.40677	0.0:0.199:0.0:0.801	.	.	.	.	X	353	.	ENSP00000304604:Y353X	Y	+	3	2	MAGI3	113958786	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.415000	0.21181	0.465000	0.27167	0.533000	0.62120	TAT		0.358	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		A	114157263	T	A	114157263	4	1	346	1	0	0	0	0	0	1	0	0	9194	1471	51	5	1085	5	MAGI3	1	114157263	Nonsense_Mutation	SNP	T	TCGA-BP-4756-01A-01D-1366-10	13814039	114157263	135093358	3	19878											
CACNA1S	779	hgsc.bcm.edu	37	1	201058500	201058500	+	Silent	SNP	C	C	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr1:201058500C>A	ENST00000362061.3	-	6	1012	c.786G>T	c.(784-786)cgG>cgT	p.R262R	CACNA1S_ENST00000367338.3_Silent_p.R262R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	262					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCAGCCGCCCCGGCACTCAC	0.627																																																0													58	51	53					1																	201058500		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.786G>T	1.37:g.201058500C>A			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.627	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201058500	C	A	201058500	2	1	346	1	0	0	0	0	0	0	0	1	2549	610	22	4		4	CACNA1S	1	201058500	Silent	SNP	C	TCGA-BP-4756-01A-01D-1366-10	86901237	201058500	48192121	4	19879											
IFT172	26160	hgsc.bcm.edu;ucsc.edu	37	2	27671791	27671791	+	Silent	SNP	A	A	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr2:27671791A>G	ENST00000260570.3	-	40	4522	c.4419T>C	c.(4417-4419)gcT>gcC	p.A1473A		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1473					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCTGTGGGTTAGCAGGGGCTC	0.502																																																0													115	114	114					2																	27671791		2203	4300	6503	SO:0001819	synonymous_variant	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4419T>C	2.37:g.27671791A>G			A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	CCDS1755.1																																																																																				0.502	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		G	27671791	A	G	27671791	2	3	346	1	0	0	0	0	0	0	0	1	7559	407	15	3		3	IFT172	2	27671791	Silent	SNP	A	TCGA-BP-4756-01A-01D-1366-10		27671791	215527582	5	19880											
OXER1	165140	hgsc.bcm.edu;ucsc.edu	37	2	42991163	42991163	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr2:42991163A>G	ENST00000378661.2	-	1	238	c.157T>C	c.(157-159)Tcc>Ccc	p.S53P		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	53	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						acagaggaggagagagaggga	0.612																																																0													62	52	55					2																	42991163		2203	4300	6503	SO:0001583	missense	165140			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.157T>C	2.37:g.42991163A>G	ENSP00000367930:p.Ser53Pro		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048348	0.36181	.	.	ENSG00000162881	ENST00000378661	T	0.61158	0.13	2.24	0.964	0.19655	.	.	.	.	.	T	0.30293	0.0760	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.16364	-1.0405	9	0.23302	T	0.38	.	4.0855	0.09945	0.7726:0.0:0.2274:0.0	.	53	Q8TDS5	OXER1_HUMAN	P	53	ENSP00000367930:S53P	ENSP00000367930:S53P	S	-	1	0	OXER1	42844667	0.381000	0.25140	0.001000	0.08648	0.009000	0.06853	-0.021000	0.12504	0.092000	0.17331	0.254000	0.18369	TCC		0.612	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		G	42991163	A	G	42991163	3	3	346	1	0	0	0	0	1	0	0	0	11333	304	11	3	1118	3	OXER1	2	42991163	Missense_Mutation	SNP	A	TCGA-BP-4756-01A-01D-1366-10	15319372	42991163	200208210	6	19881											
EHBP1	23301	hgsc.bcm.edu;ucsc.edu	37	2	63175596	63175596	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr2:63175596G>A	ENST00000263991.5	+	14	2202	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N	EHBP1_ENST00000405015.3_Missense_Mutation_p.D539N|EHBP1_ENST00000354487.3_Missense_Mutation_p.D539N|EHBP1_ENST00000405289.1_Missense_Mutation_p.D539N|EHBP1_ENST00000431489.1_Missense_Mutation_p.D539N	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	574						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CTATGAAACAGATACAAACAG	0.398																																																0													69	69	69					2																	63175596		2203	4300	6503	SO:0001583	missense	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1720G>A	2.37:g.63175596G>A	ENSP00000263991:p.Asp574Asn		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044821	0.75732	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.77229	-1.07;-1.07;-1.08;-1.06;-1.06	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	N	0.19112	0.55	0.80722	D	1	D;B;D	0.76494	0.999;0.197;0.998	D;B;D	0.87578	0.998;0.062;0.995	T	0.77913	-0.2410	10	0.30078	T	0.28	.	14.4764	0.67548	0.0703:0.0:0.9297:0.0	.	539;539;574	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	N	539;539;574;539;539	ENSP00000384143:D539N;ENSP00000403783:D539N;ENSP00000263991:D574N;ENSP00000346482:D539N;ENSP00000385524:D539N	ENSP00000263991:D574N	D	+	1	0	EHBP1	63029100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.334000	0.96470	1.423000	0.47198	0.655000	0.94253	GAT		0.398	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		A	63175596	G	A	63175596	3	1	346	1	0	0	0	0	1	0	0	0	4977	942	33	2	1770	2	EHBP1	2	63175596	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10	20184433	63175596	180023777	7	19882											
CCBP2	1238	hgsc.bcm.edu;ucsc.edu	37	3	42906057	42906057	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr3:42906057C>G	ENST00000422265.1	+	3	238	c.63C>G	c.(61-63)agC>agG	p.S21R	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.S21R|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.S21R|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	21					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										AGAATAGCAGCTTCTATTACT	0.542																																																0													89	84	86					3																	42906057		2203	4300	6503	SO:0001583	missense	1238			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.63C>G	3.37:g.42906057C>G	ENSP00000416996:p.Ser21Arg		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560299	0.27827	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.54479	0.57;0.57;0.57	4.99	2.24	0.28232	.	5.203640	0.00357	N	0.000032	T	0.62744	0.2453	L	0.59436	1.845	0.80722	D	1	D;D	0.58268	0.964;0.982	P;P	0.53450	0.642;0.726	T	0.43048	-0.9415	9	.	.	.	.	7.2631	0.26214	0.0:0.719:0.0:0.281	.	21;21	O00590;Q7Z7I1	CCBP2_HUMAN;.	R	21	ENSP00000396150:S21R;ENSP00000416996:S21R;ENSP00000273145:S21R	.	S	+	3	2	CCBP2	42881061	0.747000	0.28283	0.834000	0.33040	0.020000	0.10135	0.957000	0.29215	0.166000	0.19597	-0.251000	0.11542	AGC		0.542	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		G	42906057	C	G	42906057	3	3	346	1	0	0	0	0	1	0	0	0	2736	796	28	4	65	4	CCBP2	3	42906057	Missense_Mutation	SNP	C	TCGA-BP-4756-01A-01D-1366-10		42906057	155116373	8	19883											
C3orf75	54859	hgsc.bcm.edu;ucsc.edu	37	3	47551730	47551730	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr3:47551730A>G	ENST00000296149.4	-	3	318	c.148T>C	c.(148-150)Tgc>Cgc	p.C50R	ELP6_ENST00000446787.1_5'UTR|ELP6_ENST00000460502.1_5'Flank|ELP6_ENST00000439305.1_5'UTR	NM_001031703.2	NP_001026873.2	Q0PNE2	ELP6_HUMAN	elongator acetyltransferase complex subunit 6	50					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Elongator holoenzyme complex (GO:0033588)											GCCACAAAGCAGACTTTACAA	0.403																																																0													81	75	77					3																	47551730		1860	4103	5963	SO:0001583	missense	0			AK000218	CCDS43082.1	3p21.31	2012-08-14	2012-08-08	2012-08-08	ENSG00000163832	ENSG00000163832		"Elongator acetyltransferase complex subunits"	25976	protein-coding gene	gene with protein product		615020	"transmembrane protein 103", "chromosome 3 open reading frame 75"	TMEM103, C3orf75		22854966	Standard	XM_005265241		Approved	FLJ20211	uc003crk.3	Q0PNE2	OTTHUMG00000133521	ENST00000296149.4:c.148T>C	3.37:g.47551730A>G	ENSP00000296149:p.Cys50Arg		Q9BW57|Q9NXJ3	Missense_Mutation	SNP	ENST00000296149.4	37	CCDS43082.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734416	0.69189	.	.	ENSG00000163832	ENST00000296149	.	.	.	5.83	5.83	0.93111	.	0.085303	0.85682	D	0.000000	T	0.79046	0.4380	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.986;0.993	T	0.81769	-0.0781	9	0.72032	D	0.01	-10.552	12.6046	0.56516	1.0:0.0:0.0:0.0	.	50;50	C9JAS1;Q0PNE2	.;CC075_HUMAN	R	50	.	ENSP00000296149:C50R	C	-	1	0	C3orf75	47526734	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.589000	0.67523	2.236000	0.73375	0.533000	0.62120	TGC		0.403	ELP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257493.1	NM_017713		G	47551730	A	G	47551730	3	3	346	1	0	0	0	0	1	0	0	0	2247	188	7	3	672	3	C3orf75	3	47551730	Missense_Mutation	SNP	A	TCGA-BP-4756-01A-01D-1366-10	4645673	47551730	150470700	9	19884											
USP4	7375	hgsc.bcm.edu;ucsc.edu	37	3	49321434	49321434	+	Silent	SNP	T	T	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr3:49321434T>A	ENST00000265560.4	-	19	2572	c.2526A>T	c.(2524-2526)gtA>gtT	p.V842V	USP4_ENST00000351842.4_Silent_p.V795V	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	842	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTGGGAATTCTACGACTGTGT	0.458																																																0													141	137	138					3																	49321434		2203	4300	6503	SO:0001819	synonymous_variant	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2526A>T	3.37:g.49321434T>A			A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	T	7.642	0.681104	0.14907	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.63	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.8739	7.6525	0.28356	0.2504:0.6562:0.0:0.0934	.	.	.	.	X	581	.	.	R	-	1	2	USP4	49296438	0.998000	0.40836	1.000000	0.80357	0.752000	0.42762	0.694000	0.25512	1.347000	0.45714	-0.242000	0.12053	AGA		0.458	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		A	49321434	T	A	49321434	2	1	346	1	0	0	0	0	0	0	0	1	17076	1509	53	5		5	USP4	3	49321434	Silent	SNP	T	TCGA-BP-4756-01A-01D-1366-10	1769704	49321434	148700996	10	19885											
ACOX2	8309	hgsc.bcm.edu	37	3	58512375	58512375	+	Silent	SNP	T	T	C	rs1127743	byFrequency	TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr3:58512375T>C	ENST00000302819.5	-	10	1455	c.1164A>G	c.(1162-1164)gcA>gcG	p.A388A	ACOX2_ENST00000459701.2_Silent_p.A374A	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	388					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CCGTGCTCAGTGCGTGGAGCT	0.592													T|||	818	0.163339	0.3041	0.1066	5008	,	,		19469	0.2282		0.0427	False		,,,				2504	0.0706															0								T		1245,3161	427.6+/-341.6	171,903,1129	72	67	69		1164	-2.9	0.6	3	dbSNP_86	69	444,8156	134.1+/-191.5	10,424,3866	yes	coding-synonymous	ACOX2	NM_003500.3		181,1327,4995	CC,CT,TT		5.1628,28.2569,12.9863		388/682	58512375	1689,11317	2203	4300	6503	SO:0001819	synonymous_variant	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1164A>G	3.37:g.58512375T>C			A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	CCDS33775.1																																																																																				0.592	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			C	58512375	T	C	58512375	2	2	346	1	0	0	0	0	0	0	0	1	159	1683	59	3		3	ACOX2	3	58512375	Silent	SNP	T	TCGA-BP-4756-01A-01D-1366-10	9190941	58512375	139510055	11	19886											
GOLGB1	2804	hgsc.bcm.edu;ucsc.edu	37	3	121415214	121415214	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr3:121415214T>A	ENST00000340645.5	-	13	4266	c.4141A>T	c.(4141-4143)Att>Ttt	p.I1381F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.I1386F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1381					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGGCCAGCAATTTGTAGTTGG	0.418																																																0													159	164	162					3																	121415214		2203	4299	6502	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4141A>T	3.37:g.121415214T>A	ENSP00000341848:p.Ile1381Phe		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625141	0.28889	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.24908	2.38;2.38;1.83	6.17	2.47	0.30058	.	0.222757	0.31519	N	0.007511	T	0.25044	0.0608	L	0.60455	1.87	0.31317	N	0.686472	D;D;P;P;P	0.53151	0.958;0.958;0.919;0.919;0.589	P;P;P;P;B	0.45506	0.483;0.483;0.483;0.483;0.162	T	0.20806	-1.0264	10	0.31617	T	0.26	.	7.3555	0.26717	0.0:0.2439:0.0:0.7561	.	1306;1345;1386;1386;1381	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	F	1381;1386;1345	ENSP00000341848:I1381F;ENSP00000377275:I1386F;ENSP00000418231:I1345F	ENSP00000341848:I1381F	I	-	1	0	GOLGB1	122897904	0.000000	0.05858	0.954000	0.39281	0.679000	0.39708	-0.376000	0.07465	0.528000	0.28580	0.533000	0.62120	ATT		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		A	121415214	T	A	121415214	3	1	346	1	0	0	0	0	1	0	0	0	6567	1493	52	5	5678	5	GOLGB1	3	121415214	Missense_Mutation	SNP	T	TCGA-BP-4756-01A-01D-1366-10	62902839	121415214	76607216	12	19887											
NFXL1	152518	hgsc.bcm.edu;ucsc.edu	37	4	47892656	47892656	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr4:47892656T>G	ENST00000507489.1	-	12	1693	c.1517A>C	c.(1516-1518)cAt>cCt	p.H506P	NFXL1_ENST00000381538.3_Missense_Mutation_p.H506P|NFXL1_ENST00000329043.3_Missense_Mutation_p.H506P	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	506						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						TGGACACTTATGGTTTCTACA	0.348																																																0													103	94	97					4																	47892656		2203	4300	6503	SO:0001583	missense	152518			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.1517A>C	4.37:g.47892656T>G	ENSP00000422037:p.His506Pro		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395062	0.83011	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.55588	0.51;0.51;0.51	5.26	5.26	0.73747	Zinc finger, NF-X1-type (1);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88687	0.3206	10	0.87932	D	0	-17.2328	15.1691	0.72854	0.0:0.0:0.0:1.0	.	506	Q6ZNB6	NFXL1_HUMAN	P	506	ENSP00000370949:H506P;ENSP00000422037:H506P;ENSP00000333113:H506P	ENSP00000333113:H506P	H	-	2	0	NFXL1	47587413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.631000	0.83237	2.000000	0.58554	0.528000	0.53228	CAT		0.348	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		G	47892656	T	G	47892656	3	3	346	1	0	0	0	0	1	0	0	0	10390	1464	51	5	1266	5	NFXL1	4	47892656	Missense_Mutation	SNP	T	TCGA-BP-4756-01A-01D-1366-10		47892656	143261620	13	19888											
EDNRA	1909	hgsc.bcm.edu;ucsc.edu	37	4	148463689	148463689	+	Silent	SNP	C	C	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr4:148463689C>T	ENST00000324300.5	+	8	1718	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	EDNRA_ENST00000358556.4_Silent_p.N292N|EDNRA_ENST00000506066.1_Silent_p.N292N|EDNRA_ENST00000511804.1_Silent_p.N176N|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	401					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TCCCCATGAACGGAACAAGCA	0.532																																																0													191	169	176					4																	148463689		2203	4300	6503	SO:0001819	synonymous_variant	1909			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.1203C>T	4.37:g.148463689C>T			B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	ENST00000324300.5	37	CCDS3769.1																																																																																				0.532	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			T	148463689	C	T	148463689	2	4	346	1	0	0	0	0	0	0	0	1	4921	535	19	1		1	EDNRA	4	148463689	Silent	SNP	C	TCGA-BP-4756-01A-01D-1366-10	100571033	148463689	42690587	14	19889											
SLC35A4	113829	hgsc.bcm.edu	37	5	139946945	139946946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr5:139946945_139946946insA	ENST00000514199.1	+	2	1877_1878	c.191_192insA	c.(190-195)ttatgcfs	p.C65fs	APBB3_ENST00000507279.1_Intron|APBB3_ENST00000357560.4_5'Flank|APBB3_ENST00000508496.2_5'Flank|SLC35A4_ENST00000323146.3_Frame_Shift_Ins_p.C65fs			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	65	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTACTGTTATGCGCCTTCT	0.658																																																0																																										SO:0001589	frameshift_variant	113829			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"Solute carriers"	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.192dupA	5.37:g.139946946_139946946dupA	ENSP00000424566:p.Cys65fs		A8K013	Frame_Shift_Ins	INS	ENST00000514199.1	37	CCDS4231.1																																																																																				0.658	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		A	139946946	-	A	139946945	7	5	346	1	0	1	1	0	0	0	0	0	14579	1764	61	0	193	0	SLC35A4	5	139946945	Frame_Shift_Ins	INS	-	TCGA-BP-4756-01A-01D-1366-10		139946945	40968315	15	19890											
AKR1B1	231	hgsc.bcm.edu	37	7	134136494	134136494	+	Silent	SNP	C	C	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr7:134136494C>A	ENST00000285930.4	-	2	157	c.78G>T	c.(76-78)ggG>ggT	p.G26G	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	26					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	CAGTCACCTGCCCTGGAGGGG	0.602																																																0													44	39	41					7																	134136494		2203	4300	6503	SO:0001819	synonymous_variant	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"Aldo-keto reductases"	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.78G>T	7.37:g.134136494C>A			B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Silent	SNP	ENST00000285930.4	37	CCDS5831.1																																																																																				0.602	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		A	134136494	C	A	134136494	2	1	346	1	0	0	0	0	0	0	0	1	466	726	26	4		4	AKR1B1	7	134136494	Silent	SNP	C	TCGA-BP-4756-01A-01D-1366-10		134136494	25002169	16	19891											
SLC37A3	84255	hgsc.bcm.edu;ucsc.edu	37	7	140035229	140035229	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr7:140035229G>T	ENST00000326232.9	-	15	1671	c.1468C>A	c.(1468-1470)Cac>Aac	p.H490N	SLC37A3_ENST00000447932.2_Missense_Mutation_p.H474N|SLC37A3_ENST00000340308.3_Nonsense_Mutation_p.S389*	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	490					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CTCAATATGTGAGCCTGTCTC	0.448																																					Esophageal Squamous(133;211 1716 4665 11387 37873)											0													107	96	100					7																	140035229		2203	4300	6503	SO:0001583	missense	84255			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.1468C>A	7.37:g.140035229G>T	ENSP00000321498:p.His490Asn		Q6PIU7|Q86SS4|Q9BQG7	Nonsense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.67|18.67	3.673884|3.673884	0.67928|0.67928	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000447932;ENST00000326232;ENST00000469636;ENST00000485538;ENST00000477006|ENST00000340308;ENST00000498469;ENST00000491357;ENST00000492027	T;T|.	0.13420|.	2.59;2.59|.	4.9|4.9	4.02|4.02	0.46733|0.46733	.|.	0.469770|.	0.24035|.	N|.	0.042154|.	T|.	0.45736|.	0.1357|.	N|N	0.22421|0.22421	0.69|0.69	0.35514|0.35514	D|D	0.800906|0.800906	B;B;B|.	0.18310|.	0.019;0.011;0.027|.	B;B;B|.	0.21546|.	0.008;0.004;0.035|.	T|.	0.56360|.	-0.7992|.	10|.	0.39692|0.37606	T|T	0.17|0.19	-27.8417|-27.8417	11.9097|11.9097	0.52733|0.52733	0.0808:0.0:0.9192:0.0|0.0808:0.0:0.9192:0.0	.|.	474;490;102|.	Q8NCC5-2;Q8NCC5;B3KX37|.	.;SPX3_HUMAN;.|.	N|X	474;490;52;44;105|389;107;68;76	ENSP00000397481:H474N;ENSP00000321498:H490N|.	ENSP00000321498:H490N|ENSP00000343358:S389X	H|S	-|-	1|2	0|0	SLC37A3|SLC37A3	139681698|139681698	0.987000|0.987000	0.35691|0.35691	0.048000|0.048000	0.18961|0.18961	0.432000|0.432000	0.31715|0.31715	4.311000|4.311000	0.59147|0.59147	1.442000|1.442000	0.47568|0.47568	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.448	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		T	140035229	G	T	140035229	3	4	346	1	0	0	0	0	1	0	0	0	14605	1294	45	4	169	4	SLC37A3	7	140035229	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10	5898735	140035229	19103434	17	19892											
MLL3	58508	hgsc.bcm.edu;ucsc.edu	37	7	151882665	151882665	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr7:151882665G>T	ENST00000262189.6	-	34	5278	c.5060C>A	c.(5059-5061)tCa>tAa	p.S1687*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1687*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1687					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTTTCTTGTGAGCTTGCTTT	0.328																																																0													151	130	137					7																	151882665		2202	4300	6502	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5060C>A	7.37:g.151882665G>T	ENSP00000262189:p.Ser1687*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	47	13.303067	0.99733	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.03	5.03	0.67393	.	0.000000	0.40818	N	0.001017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3905	0.90481	0.0:0.0:1.0:0.0	.	.	.	.	X	1687	.	ENSP00000262189:S1687X	S	-	2	0	MLL3	151513598	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.675000	0.98638	2.330000	0.79161	0.643000	0.83706	TCA		0.328	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151882665	G	T	151882665	4	4	346	1	0	0	0	0	0	1	0	0	9624	1294	45	4	9779	4	MLL3	7	151882665	Nonsense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10	11847436	151882665	7255998	18	19893											
TG	7038	hgsc.bcm.edu	37	8	133941401	133941401	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr8:133941401C>T	ENST00000220616.4	+	23	4820	c.4780C>T	c.(4780-4782)Cct>Tct	p.P1594S	TG_ENST00000377869.1_Missense_Mutation_p.P1537S|TG_ENST00000542445.1_Missense_Mutation_p.P28S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1594					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.P1594S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATCCAAAGTTCCTGATTCTGA	0.463																																																1	Substitution - Missense(1)	skin(1)											141	118	126					8																	133941401		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4780C>T	8.37:g.133941401C>T	ENSP00000220616:p.Pro1594Ser		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.764|7.764	0.706102|0.706102	0.15239|0.15239	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000519178	T;T;T|.	0.65732|.	-0.17;-0.17;-0.17|.	5.5|5.5	1.34|1.34	0.21922|0.21922	.|.	1.321480|.	0.04795|.	N|.	0.432475|.	T|T	0.34658|0.34658	0.0905|0.0905	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B|.	0.20052|.	0.041;0.006|.	B;B|.	0.17433|.	0.018;0.003|.	T|T	0.25363|0.25363	-1.0134|-1.0134	10|5	0.20046|.	T|.	0.44|.	.|.	4.751|4.751	0.13061|0.13061	0.1404:0.505:0.2736:0.0811|0.1404:0.505:0.2736:0.0811	.|.	28;1594|.	F5GWW5;P01266|.	.;THYG_HUMAN|.	S|F	1537;400;1594;28|113	ENSP00000367100:P1537S;ENSP00000220616:P1594S;ENSP00000441693:P28S|.	ENSP00000220616:P1594S|.	P|S	+|+	1|2	0|0	TG|TG	134010583|134010583	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.084000|0.084000	0.17831|0.17831	0.570000|0.570000	0.23653|0.23653	0.340000|0.340000	0.23745|0.23745	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133941401	C	T	133941401	3	4	346	1	0	0	0	0	1	0	0	0	15818	855	30	2	4870	2	TG	8	133941401	Missense_Mutation	SNP	C	TCGA-BP-4756-01A-01D-1366-10		133941401	12422621	19	19894											
SECISBP2	79048	hgsc.bcm.edu	37	9	91964776	91964776	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr9:91964776C>G	ENST00000375807.3	+	13	1895	c.1824C>G	c.(1822-1824)gaC>gaG	p.D608E	SECISBP2_ENST00000534113.2_Missense_Mutation_p.D540E|SECISBP2_ENST00000339901.4_Missense_Mutation_p.D535E	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	608					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TCCAGAGGGACACAGAGGCCT	0.587																																																0													157	132	140					9																	91964776		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1824C>G	9.37:g.91964776C>G	ENSP00000364965:p.Asp608Glu		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	C	0.938	-0.710512	0.03230	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.72051	-0.61;-0.62;-0.61	4.52	0.193	0.15139	.	0.934042	0.09078	N	0.851699	T	0.45637	0.1352	N	0.16478	0.41	0.09310	N	1	B;B;B	0.14012	0.005;0.009;0.005	B;B;B	0.15484	0.006;0.013;0.004	T	0.32824	-0.9892	10	0.02654	T	1	-8.8123	5.4432	0.16521	0.0:0.4118:0.1967:0.3915	.	615;535;608	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	E	608;614;535;540	ENSP00000364965:D608E;ENSP00000364959:D535E;ENSP00000436650:D540E	ENSP00000364959:D535E	D	+	3	2	SECISBP2	91154596	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	0.006000	0.13152	0.153000	0.19213	0.655000	0.94253	GAC		0.587	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		G	91964776	C	G	91964776	3	3	346	1	0	0	0	0	1	0	0	0	14012	477	17	4	1874	4	SECISBP2	9	91964776	Missense_Mutation	SNP	C	TCGA-BP-4756-01A-01D-1366-10		91964776	49248655	20	19895											
DPM2	8818	hgsc.bcm.edu;ucsc.edu	37	9	130698858	130698858	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr9:130698858G>A	ENST00000314392.8	-	3	833	c.170C>T	c.(169-171)gCa>gTa	p.A57V	RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA|DPM2_ENST00000373110.4_Missense_Mutation_p.A57V|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	57					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)			lung(1)	1						CAGGAGGCCTGCAGCCAGTGG	0.582																																																0													183	140	154					9																	130698858		2203	4300	6503	SO:0001583	missense	8818			AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"DPM synthase complex subunit"	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.170C>T	9.37:g.130698858G>A	ENSP00000322181:p.Ala57Val		Q5XKK9|Q6FGH3	Missense_Mutation	SNP	ENST00000314392.8	37	CCDS6886.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.414618	0.01145	.	.	ENSG00000136908	ENST00000314392;ENST00000373110	T;T	0.64803	-0.12;-0.12	5.68	1.28	0.21552	.	0.109203	0.64402	N	0.000009	T	0.42471	0.1204	.	.	.	0.24276	N	0.995229	B	0.16166	0.016	B	0.16722	0.016	T	0.19712	-1.0297	9	0.26408	T	0.33	-6.8852	7.1609	0.25662	0.424:0.0:0.576:0.0	.	57	O94777	DPM2_HUMAN	V	57	ENSP00000322181:A57V;ENSP00000362202:A57V	ENSP00000322181:A57V	A	-	2	0	DPM2	129738679	0.398000	0.25279	0.003000	0.11579	0.012000	0.07955	1.223000	0.32527	0.196000	0.20367	-0.367000	0.07326	GCA		0.582	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054324.1	NM_003863		A	130698858	G	A	130698858	3	1	346	1	0	0	0	0	1	0	0	0	4727	1319	46	2	92	2	DPM2	9	130698858	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10	38734082	130698858	10514573	21	19896											
MYST4	23522	hgsc.bcm.edu;ucsc.edu	37	10	76788758	76788758	+	Silent	SNP	A	A	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr10:76788758A>G	ENST00000287239.4	+	18	4665	c.4176A>G	c.(4174-4176)gaA>gaG	p.E1392E	KAT6B_ENST00000372711.1_Silent_p.E1209E|KAT6B_ENST00000372714.1_Silent_p.E1100E|KAT6B_ENST00000372725.1_Silent_p.E1100E|KAT6B_ENST00000372724.1_Silent_p.E1100E	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1392					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AAAAAGAGGAACCAGAAATCT	0.463																																																0													73	72	72					10																	76788758		2203	4300	6503	SO:0001819	synonymous_variant	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4176A>G	10.37:g.76788758A>G			O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	37	CCDS7345.1																																																																																				0.463	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		G	76788758	A	G	76788758	2	3	346	1	0	0	0	0	0	0	0	1	10107	40	2	3		3	MYST4	10	76788758	Silent	SNP	A	TCGA-BP-4756-01A-01D-1366-10		76788758	58745989	22	19897											
POLL	27343	hgsc.bcm.edu;ucsc.edu	37	10	103345150	103345150	+	Missense_Mutation	SNP	G	G	C	rs200617884		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr10:103345150G>C	ENST00000370162.3	-	4	990	c.496C>G	c.(496-498)Ctt>Gtt	p.L166V	DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.L166V|POLL_ENST00000456836.2_Intron|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000299206.4_Missense_Mutation_p.L166V|DPCD_ENST00000370151.4_5'Flank|POLL_ENST00000370172.1_Missense_Mutation_p.L78V|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000436284.2_Intron|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370158.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	166					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGAGGAGAAAGGGCTGTCTGA	0.597								DNA polymerases (catalytic subunits)																																								0													218	181	193					10																	103345150		2203	4300	6503	SO:0001583	missense	27343			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.496C>G	10.37:g.103345150G>C	ENSP00000359181:p.Leu166Val		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	G	3.675	-0.066654	0.07273	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370172;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000426919;ENST00000413344;ENST00000430045	T;T;T;T;T;T;T	0.44881	2.75;2.75;2.72;2.75;2.18;1.56;0.91	4.89	2.97	0.34412	.	1.657060	0.02929	N	0.138942	T	0.45175	0.1329	M	0.62723	1.935	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.35001	-0.9806	10	0.25106	T	0.35	-31.4672	11.5517	0.50725	0.0:0.3484:0.6516:0.0	.	166;166	Q9UGP5;A8K860	DPOLL_HUMAN;.	V	166;166;166;78;166;166;166;177;166;166	ENSP00000299206:L166V;ENSP00000359188:L166V;ENSP00000359191:L78V;ENSP00000359181:L166V;ENSP00000400676:L166V;ENSP00000411678:L177V;ENSP00000400517:L166V	ENSP00000299206:L166V	L	-	1	0	POLL	103335140	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.740000	0.26188	0.734000	0.32515	-0.304000	0.09214	CTT		0.597	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		C	103345150	G	C	103345150	3	2	346	1	0	0	0	0	1	0	0	0	12207	1000	35	4	1255	4	POLL	10	103345150	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10	26556392	103345150	32189597	23	19898											
MGEA5	10724	hgsc.bcm.edu	37	10	103547234	103547234	+	Missense_Mutation	SNP	G	G	T	rs369274136		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr10:103547234G>T	ENST00000361464.3	-	15	2896	c.2501C>A	c.(2500-2502)aCt>aAt	p.T834N	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.T781N|MGEA5_ENST00000357797.5_Missense_Mutation_p.T767N	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	834					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		AGCAAGGAAAGTTTCTGGCAG	0.373																																																0													144	143	143					10																	103547234		2203	4300	6503	SO:0001583	missense	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2501C>A	10.37:g.103547234G>T	ENSP00000354850:p.Thr834Asn		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379652	0.42207	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797	T;T;T	0.30182	1.55;1.54;1.54	5.63	5.63	0.86233	Acyl-CoA N-acyltransferase (2);	0.047665	0.85682	D	0.000000	T	0.14787	0.0357	N	0.02011	-0.69	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.19811	-1.0294	10	0.14656	T	0.56	-5.9963	20.0959	0.97842	0.0:0.0:1.0:0.0	.	781;767;834	E9PGF9;O60502-2;O60502	.;.;NCOAT_HUMAN	N	781;834;767	ENSP00000409973:T781N;ENSP00000354850:T834N;ENSP00000350445:T767N	ENSP00000350445:T767N	T	-	2	0	MGEA5	103537224	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.416000	0.97383	2.819000	0.97034	0.650000	0.86243	ACT		0.373	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		T	103547234	G	T	103547234	3	4	346	1	0	0	0	0	1	0	0	0	9557	1029	36	4	257	4	MGEA5	10	103547234	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10	202084	103547234	31987513	24	19899											
PNLIPRP3	119548	hgsc.bcm.edu;ucsc.edu	37	10	118228715	118228715	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr10:118228715T>C	ENST00000369230.3	+	9	1092	c.946T>C	c.(946-948)Tcc>Ccc	p.S316P		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	316					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTCTTTTGTTCCAAAGAAGG	0.313																																																0													79	80	79					10																	118228715		2203	4299	6502	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.946T>C	10.37:g.118228715T>C	ENSP00000358232:p.Ser316Pro			Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.563547	0.00134	.	.	ENSG00000203837	ENST00000369230	D	0.89746	-2.56	4.96	2.06	0.26882	Lipase, N-terminal (1);	0.000000	0.44902	N	0.000409	T	0.59293	0.2183	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.58222	-0.7674	10	0.02654	T	1	.	6.2991	0.21103	0.1295:0.66:0.0:0.2105	.	316	Q17RR3	LIPR3_HUMAN	P	316	ENSP00000358232:S316P	ENSP00000358232:S316P	S	+	1	0	PNLIPRP3	118218705	0.841000	0.29509	0.001000	0.08648	0.564000	0.35744	1.168000	0.31859	0.028000	0.15324	-0.186000	0.12905	TCC		0.313	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		C	118228715	T	C	118228715	3	2	346	1	0	0	0	0	1	0	0	0	12154	1783	62	3	980	3	PNLIPRP3	10	118228715	Missense_Mutation	SNP	T	TCGA-BP-4756-01A-01D-1366-10	14681481	118228715	17306032	25	19900											
SLC22A25	387601	hgsc.bcm.edu	37	11	62984813	62984813	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr11:62984813G>A	ENST00000306494.6	-	4	802	c.803C>T	c.(802-804)cCa>cTa	p.P268L	SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000403374.2_Missense_Mutation_p.P102L|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GACAAAGCATGGTGCAGACAT	0.433																																																0													138	118	125					11																	62984813		2201	4298	6499	SO:0001583	missense	387601			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.803C>T	11.37:g.62984813G>A	ENSP00000307443:p.Pro268Leu			Missense_Mutation	SNP	ENST00000306494.6	37	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812241	0.50527	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.75050	0.77;-0.9	3.49	3.49	0.39957	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.060357	0.64402	D	0.000002	D	0.88066	0.6337	M	0.93462	3.42	0.09310	N	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.994	T	0.80037	-0.1550	10	0.87932	D	0	.	10.6534	0.45661	0.0:0.0:1.0:0.0	.	266;268	A4IF29;Q6T423	.;S22AP_HUMAN	L	268;102	ENSP00000307443:P268L;ENSP00000384208:P102L	ENSP00000307443:P268L	P	-	2	0	SLC22A25	62741389	0.993000	0.37304	0.002000	0.10522	0.001000	0.01503	5.228000	0.65310	1.528000	0.49103	0.530000	0.56133	CCA		0.433	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		A	62984813	G	A	62984813	3	1	346	1	0	0	0	0	1	0	0	0	14460	1348	47	2	864	2	SLC22A25	11	62984813	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10		62984813	72021703	26	19901											
ODZ4	26011	hgsc.bcm.edu;ucsc.edu	37	11	78565192	78565192	+	Silent	SNP	G	G	A	rs372323028		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr11:78565192G>A	ENST00000278550.7	-	12	2100	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	546					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										ACTCCTTTCCGTCATTGTAAA	0.547																																																0								G		0,1384		0,0,692	48	49	48		1638	-10	0.5	11		48	1,3181		0,1,1590	no	coding-synonymous	ODZ4	NM_001098816.2		0,1,2282	AA,AG,GG		0.0314,0.0,0.0219		546/2770	78565192	1,4565	692	1591	2283	SO:0001819	synonymous_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.1638C>T	11.37:g.78565192G>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			A	78565192	G	A	78565192	2	1	346	1	0	0	0	0	0	0	0	1	10839	1136	40	1		1	ODZ4	11	78565192	Silent	SNP	G	TCGA-BP-4756-01A-01D-1366-10	15580379	78565192	56441324	27	19902											
BIRC2	329	hgsc.bcm.edu;ucsc.edu	37	11	102239263	102239263	+	Silent	SNP	T	T	C			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr11:102239263T>C	ENST00000227758.2	+	6	2749	c.1350T>C	c.(1348-1350)gcT>gcC	p.A450A	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Silent_p.A429A|BIRC2_ENST00000530675.1_Silent_p.A401A	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	450					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAAAACAAGCTGAAGAAATGG	0.403																																																0													127	134	131					11																	102239263		2203	4299	6502	SO:0001819	synonymous_variant	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1350T>C	11.37:g.102239263T>C			B4E026|Q16516|Q4TTG0	Silent	SNP	ENST00000227758.2	37	CCDS8316.1																																																																																				0.403	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		C	102239263	T	C	102239263	2	2	346	1	0	0	0	0	0	0	0	1	1435	1567	55	3		3	BIRC2	11	102239263	Silent	SNP	T	TCGA-BP-4756-01A-01D-1366-10	23674071	102239263	32767253	28	19903											
ASB8	140461	hgsc.bcm.edu;ucsc.edu	37	12	48547222	48547222	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:48547222C>T	ENST00000317697.3	-	2	227	c.58G>A	c.(58-60)Gag>Aag	p.E20K	ASB8_ENST00000535055.1_Missense_Mutation_p.E20K|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000539528.1_Missense_Mutation_p.E20K|ASB8_ENST00000540782.1_Missense_Mutation_p.E20K|ASB8_ENST00000535988.1_Missense_Mutation_p.E20K|ASB8_ENST00000536071.1_Missense_Mutation_p.E20K|ASB8_ENST00000536549.1_Missense_Mutation_p.E20K|ASB8_ENST00000536953.1_Missense_Mutation_p.E20K	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	20					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						ATTAAGCGCTCGGAGAGAGAG	0.468																																																0													172	161	164					12																	48547222		2203	4300	6503	SO:0001583	missense	140461			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"Ankyrin repeat domain containing"	17183	protein-coding gene	gene with protein product		615053	"ankyrin repeat and SOCS box-containing 8"			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.58G>A	12.37:g.48547222C>T	ENSP00000320893:p.Glu20Lys		A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926163	0.73327	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549;ENST00000536953;ENST00000539528;ENST00000535055;ENST00000536071;ENST00000539503;ENST00000545791;ENST00000540212;ENST00000540782;ENST00000535988;ENST00000548228	T;T;T;T;T	0.55930	0.94;0.94;0.64;0.49;0.49	5.34	4.45	0.53987	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	N	0.08118	0	0.80722	D	1	P	0.36199	0.543	B	0.30646	0.118	T	0.09952	-1.0651	10	0.16420	T	0.52	-13.149	13.7243	0.62748	0.0:0.925:0.0:0.075	.	20	Q9H765	ASB8_HUMAN	K	20	ENSP00000320893:E20K;ENSP00000445622:E20K;ENSP00000444093:E20K;ENSP00000437769:E20K;ENSP00000442639:E20K	ENSP00000320893:E20K	E	-	1	0	ASB8	46833489	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	7.123000	0.77176	1.389000	0.46526	0.650000	0.86243	GAG		0.468	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			T	48547222	C	T	48547222	3	4	346	1	0	0	0	0	1	0	0	0	1029	893	31	1	820	1	ASB8	12	48547222	Missense_Mutation	SNP	C	TCGA-BP-4756-01A-01D-1366-10		48547222	85304673	29	19904											
KRT76	51350	hgsc.bcm.edu	37	12	53162773	53162773	+	Silent	SNP	A	A	G	rs1464423|rs370657661|rs576463918|rs201384439	byFrequency	TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:53162773A>G	ENST00000332411.2	-	9	1694	c.1641T>C	c.(1639-1641)agT>agC	p.S547S		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	547	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.S547_G548insS(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ctccatagccactgctgctgc	0.637													a|||	3905	0.779752	0.6241	0.8804	5008	,	,		15053	0.9028		0.8926	False		,,,				2504	0.6759															1	Insertion - In frame(1)	prostate(1)						G		2734,1470		944,846,312	14	11	12		1641	-0.6	0	12	dbSNP_88	12	7205,1029		3202,801,114	no	coding-synonymous	KRT76	NM_015848.4		4146,1647,426	GG,GA,AA		12.497,34.9667,20.0917		547/639	53162773	9939,2499	2102	4117	6219	SO:0001819	synonymous_variant	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1641T>C	12.37:g.53162773A>G			B4DRR3|Q7Z795	Silent	SNP	ENST00000332411.2	37	CCDS8838.1																																																																																				0.637	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		G	53162773	A	G	53162773	2	3	346	1	0	0	0	0	0	0	0	1	8491	156	6	3		3	KRT76	12	53162773	Silent	SNP	A	TCGA-BP-4756-01A-01D-1366-10	4615551	53162773	80689122	30	19905											
KRT4	3851	hgsc.bcm.edu	37	12	53207576	53207576	+	Missense_Mutation	SNP	A	A	T	rs372168510	byFrequency	TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:53207576A>T	ENST00000551956.1	-	1	759	c.267T>A	c.(265-267)ttT>ttA	p.F89L	KRT4_ENST00000458244.2_Missense_Mutation_p.F69L|KRT4_ENST00000293774.4_Missense_Mutation_p.F163L			P19013	K2C4_HUMAN	keratin 4	89	Gly-rich.|Head.		Missing (in allele K4B). {ECO:0000269|PubMed:16541075, ECO:0000269|PubMed:7684424}.		cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGGAGCCCCCAAATCCACCAC	0.617																																					Pancreas(190;284 2995 41444 45903)											0													42	57	52					12																	53207576		2117	4258	6375	SO:0001583	missense	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.267T>A	12.37:g.53207576A>T	ENSP00000448220:p.Phe89Leu		F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	A	11.15	1.554656	0.27739	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.89681	-1.99;-1.99;-2.55	5.14	-2.97	0.05530	.	0.286130	0.25430	N	0.030721	T	0.79464	0.4450	L	0.48218	1.51	0.22911	N	0.998574	B	0.06786	0.001	B	0.06405	0.002	T	0.62647	-0.6810	10	0.11794	T	0.64	.	8.6177	0.33842	0.3759:0.1244:0.4997:0.0	.	103	P19013	K2C4_HUMAN	L	89;163;69	ENSP00000448220:F89L;ENSP00000293774:F163L;ENSP00000387904:F69L	ENSP00000293774:F163L	F	-	3	2	KRT4	51493843	0.000000	0.05858	0.895000	0.35142	0.416000	0.31233	-0.848000	0.04326	-0.378000	0.07918	-0.361000	0.07541	TTT		0.617	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		T	53207576	A	T	53207576	3	4	346	1	0	0	0	0	1	0	0	0	8479	127	5	5	1331	5	KRT4	12	53207576	Missense_Mutation	SNP	A	TCGA-BP-4756-01A-01D-1366-10	44803	53207576	80644319	31	19906											
MSRB3	253827	hgsc.bcm.edu;ucsc.edu	37	12	65856991	65856991	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:65856991A>T	ENST00000355192.3	+	6	594	c.468A>T	c.(466-468)agA>agT	p.R156S	MSRB3_ENST00000535664.1_Missense_Mutation_p.R149S|MSRB3_ENST00000308259.5_Missense_Mutation_p.R149S	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	156					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CTGGGAAAAGATACTGCATAA	0.537																																																0													161	143	149					12																	65856991		2203	4300	6503	SO:0001583	missense	253827			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"deafness, autosomal recessive 74"	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.468A>T	12.37:g.65856991A>T	ENSP00000347324:p.Arg156Ser		B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589958	0.86851	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.000000	0.85682	D	0.000000	D	0.95459	0.8525	H	0.99090	4.425	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96375	0.9277	9	.	.	.	-0.7053	11.0014	0.47607	0.9217:0.0:0.0783:0.0	.	156;149	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	S	156;149;149;149	ENSP00000347324:R156S;ENSP00000312274:R149S;ENSP00000441650:R149S;ENSP00000445843:R149S	.	R	+	3	2	MSRB3	64143258	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.079000	0.50104	2.330000	0.79161	0.533000	0.62120	AGA		0.537	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		T	65856991	A	T	65856991	3	4	346	1	0	0	0	0	1	0	0	0	9891	330	12	5	570	5	MSRB3	12	65856991	Missense_Mutation	SNP	A	TCGA-BP-4756-01A-01D-1366-10	12649415	65856991	67994904	32	19907											
VSIG10	54621	hgsc.bcm.edu	37	12	118506355	118506355	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:118506355T>C	ENST00000359236.5	-	8	1670	c.1394A>G	c.(1393-1395)gAa>gGa	p.E465G		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	465	Glu-rich.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						ctcctcctcttcctcttcTGA	0.453																																																0													97	90	92					12																	118506355		2036	4183	6219	SO:0001583	missense	54621				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1394A>G	12.37:g.118506355T>C	ENSP00000352172:p.Glu465Gly		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	-	15.14	2.745266	0.49151	.	.	ENSG00000176834	ENST00000359236	T	0.56275	0.47	4.49	4.49	0.54785	.	0.000000	0.39475	N	0.001357	T	0.53045	0.1772	M	0.65975	2.015	0.38696	D	0.952882	P	0.39094	0.659	B	0.42959	0.403	T	0.56408	-0.7984	10	0.31617	T	0.26	-7.9331	10.6405	0.45590	0.0:0.0:0.0:1.0	.	465	Q8N0Z9	VSI10_HUMAN	G	465	ENSP00000352172:E465G	ENSP00000352172:E465G	E	-	2	0	VSIG10	116990738	0.907000	0.30839	0.987000	0.45799	0.693000	0.40251	1.316000	0.33620	1.833000	0.53350	0.234000	0.17832	GAA		0.453	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		C	118506355	T	C	118506355	3	2	346	1	0	0	0	0	1	0	0	0	17228	1783	62	3	236	3	VSIG10	12	118506355	Missense_Mutation	SNP	T	TCGA-BP-4756-01A-01D-1366-10	52649364	118506355	15345540	33	19908											
CLIP1	6249	hgsc.bcm.edu;ucsc.edu	37	12	122812845	122812845	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr12:122812845T>A	ENST00000540338.1	-	15	3037	c.2996A>T	c.(2995-2997)gAa>gTa	p.E999V	CLIP1_ENST00000537178.1_Missense_Mutation_p.E953V|CLIP1_ENST00000545889.1_Missense_Mutation_p.E574V|CLIP1_ENST00000302528.7_Missense_Mutation_p.E988V|CLIP1_ENST00000358808.2_Missense_Mutation_p.E988V|CLIP1_ENST00000361654.4_Missense_Mutation_p.E877V			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	999					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTCTTTTCTTCCTCATGCTT	0.448																																																0													281	277	278					12																	122812845		2203	4300	6503	SO:0001583	missense	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2996A>T	12.37:g.122812845T>A	ENSP00000439093:p.Glu999Val		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812482	0.50527	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.55760	2.57;0.5;0.5;0.57;0.55	5.25	4.08	0.47627	.	0.348665	0.31113	N	0.008236	T	0.49167	0.1541	M	0.69823	2.125	0.42842	D	0.994059	B;B;B	0.33940	0.433;0.294;0.306	B;B;B	0.32980	0.156;0.156;0.075	T	0.51220	-0.8733	10	0.59425	D	0.04	-11.5727	7.8973	0.29715	0.0:0.0745:0.1371:0.7885	.	953;988;999	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	V	574;988;988;718;30;953;999	ENSP00000438743:E574V;ENSP00000303585:E988V;ENSP00000351665:E988V;ENSP00000445531:E953V;ENSP00000439093:E999V	ENSP00000303585:E988V	E	-	2	0	CLIP1	121378798	0.841000	0.29509	0.993000	0.49108	0.984000	0.73092	1.287000	0.33284	0.907000	0.36646	0.459000	0.35465	GAA		0.448	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		A	122812845	T	A	122812845	3	1	346	1	0	0	0	0	1	0	0	0	3534	1783	62	5	1364	5	CLIP1	12	122812845	Missense_Mutation	SNP	T	TCGA-BP-4756-01A-01D-1366-10	4306490	122812845	11039050	34	19909											
DHRS2	10202	hgsc.bcm.edu	37	14	24108525	24108525	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr14:24108525A>G	ENST00000250383.6	+	3	754	c.278A>G	c.(277-279)cAc>cGc	p.H93R	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.H93R	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	93					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ATTGTGTGCCACGTGGGGAAG	0.657																																																0													28	32	31					14																	24108525		2201	4299	6500	SO:0001583	missense	10202				CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.278A>G	14.37:g.24108525A>G	ENSP00000250383:p.His93Arg		D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	.	15.20	2.763056	0.49574	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;T	0.21734	1.99;1.99;1.99	5.05	1.29	0.21616	NAD(P)-binding domain (1);	0.050422	0.85682	D	0.000000	T	0.35624	0.0938	L	0.60455	1.87	0.47374	D	0.999401	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.997;0.996;0.999;0.952	T	0.04723	-1.0931	10	0.87932	D	0	.	6.3812	0.21536	0.6166:0.3017:0.0817:0.0	.	71;93;93;71	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	R	93	ENSP00000401213:H93R;ENSP00000250383:H93R;ENSP00000344674:H93R	ENSP00000250383:H93R	H	+	2	0	DHRS2	23178365	0.999000	0.42202	0.971000	0.41717	0.011000	0.07611	4.235000	0.58666	0.065000	0.16485	0.402000	0.26972	CAC		0.657	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		G	24108525	A	G	24108525	3	3	346	1	0	0	0	0	1	0	0	0	4492	159	6	3	284	3	DHRS2	14	24108525	Missense_Mutation	SNP	A	TCGA-BP-4756-01A-01D-1366-10		24108525	83241015	35	19910											
MTHFD1	4522	hgsc.bcm.edu	37	14	64891605	64891605	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr14:64891605G>T	ENST00000545908.1	+	9	1208	c.979G>T	c.(979-981)Gtt>Ttt	p.V327F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.V271F|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	271	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CATCACTCCTGTTCCTGGCGG	0.473																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											0													112	89	97					14																	64891605		2203	4300	6503	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.979G>T	14.37:g.64891605G>T	ENSP00000438588:p.Val327Phe		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.204198	0.79127	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.89	5.89	0.94794	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91506	0.7318	H	0.99949	5.025	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73380	0.951;0.958;0.98	D	0.95281	0.8386	10	0.87932	D	0	-25.3332	18.5149	0.90933	0.0:0.0:1.0:0.0	.	327;271;271	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	F	327;271;327;251	ENSP00000438588:V327F;ENSP00000450560:V271F;ENSP00000216605:V327F;ENSP00000451309:V251F	ENSP00000216605:V271F	V	+	1	0	MTHFD1	63961358	1.000000	0.71417	0.993000	0.49108	0.261000	0.26267	9.793000	0.99091	2.822000	0.97130	0.650000	0.86243	GTT		0.473	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			T	64891605	G	T	64891605	3	4	346	1	0	0	0	0	1	0	0	0	9929	1377	48	4	845	4	MTHFD1	14	64891605	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10	40783080	64891605	42457935	36	19911											
RAGE	5891	hgsc.bcm.edu;ucsc.edu	37	14	102699021	102699021	+	Missense_Mutation	SNP	A	A	C	rs144699014		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr14:102699021A>C	ENST00000361847.2	-	9	948	c.717T>G	c.(715-717)ttT>ttG	p.F239L	MOK_ENST00000523231.1_Intron|MOK_ENST00000522867.1_5'UTR|MOK_ENST00000524370.1_5'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.F209L|MOK_ENST00000522534.1_5'UTR|MOK_ENST00000520266.1_Intron|MOK_ENST00000561150.1_Intron|MOK_ENST00000517966.1_5'UTR|MOK_ENST00000193029.6_Missense_Mutation_p.F5L|MOK_ENST00000519058.1_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.F238L	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TTTTAAAAGGAAAATCAAAAT	0.448																																																0													108	110	109					14																	102699021		2203	4300	6503	SO:0001583	missense	0			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.717T>G	14.37:g.102699021A>C	ENSP00000355304:p.Phe239Leu		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.445481	0.84101	.	.	ENSG00000080823	ENST00000193029;ENST00000522874;ENST00000361847;ENST00000524214	T;T;T;T	0.69040	-0.37;1.07;1.07;1.07	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	L	0.45285	1.41	0.44439	D	0.99736	D;D	0.63880	0.993;0.993	D;D	0.67382	0.951;0.914	T	0.74856	-0.3522	10	0.87932	D	0	-1.1389	8.1021	0.30863	0.845:0.0:0.155:0.0	.	209;239	E7ERR8;Q9UQ07	.;MOK_HUMAN	L	5;238;239;209	ENSP00000193029:F5L;ENSP00000429469:F238L;ENSP00000355304:F239L;ENSP00000428942:F209L	ENSP00000193029:F5L	F	-	3	2	RAGE	101768774	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.887000	0.48586	2.180000	0.69256	0.379000	0.24179	TTT		0.448	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			C	102699021	A	C	102699021	3	2	346	1	0	0	0	0	1	0	0	0	13012	243	9	5	558	5	RAGE	14	102699021	Missense_Mutation	SNP	A	TCGA-BP-4756-01A-01D-1366-10	37807416	102699021	4650519	37	19912											
ZSCAN2	54993	hgsc.bcm.edu	37	15	85164205	85164205	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr15:85164205G>T	ENST00000448803.2	+	3	1071	c.779G>T	c.(778-780)aGt>aTt	p.S260I	ZSCAN2_ENST00000546148.1_Missense_Mutation_p.S260I|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.S259I|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.S110I	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	260					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AAAAGCTTTAGTGATGGTTCA	0.483																																																0													78	81	80					15																	85164205		2203	4299	6502	SO:0001583	missense	54993			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.779G>T	15.37:g.85164205G>T	ENSP00000410198:p.Ser260Ile		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990297	0.54041	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.61040	0.14;0.14;3.15;0.14	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.57021	0.2025	N	0.13140	0.3	0.80722	D	1	P;D	0.67145	0.949;0.996	P;D	0.63283	0.676;0.913	T	0.56661	-0.7942	9	.	.	.	-21.3156	15.6428	0.77020	0.0:0.0:1.0:0.0	.	260;260	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	I	260;260;110;259;241	ENSP00000410198:S260I;ENSP00000445451:S260I;ENSP00000351257:S110I;ENSP00000325123:S259I	.	S	+	2	0	ZSCAN2	82965209	0.002000	0.14202	0.993000	0.49108	0.970000	0.65996	0.008000	0.13197	2.355000	0.79922	0.655000	0.94253	AGT		0.483	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		T	85164205	G	T	85164205	3	4	346	1	0	0	0	0	1	0	0	0	18236	1029	36	4	875	4	ZSCAN2	15	85164205	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10		85164205	17367187	38	19913											
RANBP10	57610	hgsc.bcm.edu	37	16	67763369	67763369	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr16:67763369C>T	ENST00000317506.3	-	10	1281	c.1166G>A	c.(1165-1167)tGt>tAt	p.C389Y	RANBP10_ENST00000448631.2_Missense_Mutation_p.C333Y|RANBP10_ENST00000536251.1_Missense_Mutation_p.C160Y|RANBP10_ENST00000602677.1_Missense_Mutation_p.C389Y|RANBP10_ENST00000411657.2_Missense_Mutation_p.C272Y	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	389	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GCCATTGCTACAGCTGGGACT	0.562																																																0													216	240	232					16																	67763369		2198	4300	6498	SO:0001583	missense	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1166G>A	16.37:g.67763369C>T	ENSP00000316589:p.Cys389Tyr		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309480	0.60414	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.63843	1.955	0.80722	D	1	P;D;B	0.61080	0.771;0.989;0.006	B;P;B	0.55055	0.404;0.767;0.034	T	0.73600	-0.3931	9	0.52906	T	0.07	-21.6496	17.2654	0.87085	0.0:1.0:0.0:0.0	.	272;333;389	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	Y	389;333;160;272	.	ENSP00000316589:C389Y	C	-	2	0	RANBP10	66320870	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.454000	0.66651	2.623000	0.88846	0.563000	0.77884	TGT		0.562	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		T	67763369	C	T	67763369	3	4	346	1	0	0	0	0	1	0	0	0	13032	478	17	2	716	2	RANBP10	16	67763369	Missense_Mutation	SNP	C	TCGA-BP-4756-01A-01D-1366-10		67763369	22591384	39	19914											
RPH3AL	9501	hgsc.bcm.edu	37	17	171082	171082	+	Silent	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr17:171082G>A	ENST00000331302.7	-	4	509	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	RPH3AL_ENST00000323434.8_Silent_p.L68L|RPH3AL_ENST00000576001.1_5'Flank|RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000536489.2_Silent_p.L68L|RP11-1260E13.1_ENST00000572998.1_RNA	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	68	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGCTGCTCCAGGACGTCGAGC	0.682																																																0													73	77	75					17																	171082		2203	4300	6503	SO:0001819	synonymous_variant	9501				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"Synaptotagmins"	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.202C>T	17.37:g.171082G>A			D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	37	CCDS10994.1																																																																																				0.682	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		A	171082	G	A	171082	2	1	346	1	0	0	0	0	0	0	0	1	13558	991	35	2		2	RPH3AL	17	171082	Silent	SNP	G	TCGA-BP-4756-01A-01D-1366-10		171082	81024128	40	19915											
GRB7	2886	hgsc.bcm.edu	37	17	37903011	37903011	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr17:37903011A>C	ENST00000309156.4	+	15	1717	c.1460A>C	c.(1459-1461)gAg>gCg	p.E487A	GRB7_ENST00000394209.2_Missense_Mutation_p.E487A|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394211.3_Missense_Mutation_p.E487A|GRB7_ENST00000309185.3_3'UTR|GRB7_ENST00000445327.2_Missense_Mutation_p.E510A	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	487	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGAGCGAGGAGGAGGGCCGC	0.627																																																0													84	74	78					17																	37903011		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1460A>C	17.37:g.37903011A>C	ENSP00000310771:p.Glu487Ala		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.915172	0.52546	.	.	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.89	2.58	0.30949	SH2 motif (4);	0.398328	0.27826	N	0.017687	T	0.35537	0.0935	L	0.44542	1.39	0.80722	D	1	B	0.02656	0.0	B	0.22386	0.039	T	0.17048	-1.0382	10	0.66056	D	0.02	-8.7022	10.8618	0.46831	0.6986:0.3014:0.0:0.0	.	487	Q14451	GRB7_HUMAN	A	487;487;487;510	ENSP00000310771:E487A;ENSP00000377761:E487A;ENSP00000377759:E487A;ENSP00000403459:E510A	ENSP00000310771:E487A	E	+	2	0	GRB7	35156537	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.474000	0.60203	0.319000	0.23209	0.533000	0.62120	GAG		0.627	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		C	37903011	A	C	37903011	3	2	346	1	0	0	0	0	1	0	0	0	6761	304	11	5	1514	5	GRB7	17	37903011	Missense_Mutation	SNP	A	TCGA-BP-4756-01A-01D-1366-10	37731929	37903011	43292199	41	19916											
SLC25A19	60386	hgsc.bcm.edu	37	17	73279618	73279618	+	Silent	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr17:73279618G>A	ENST00000402418.3	-	3	1254	c.345C>T	c.(343-345)gcC>gcT	p.A115A	SLC25A19_ENST00000442286.2_Silent_p.A115A|SLC25A19_ENST00000580994.1_Silent_p.A115A|SLC25A19_ENST00000375261.4_Intron|SLC25A19_ENST00000416858.2_Silent_p.A115A|SLC25A19_ENST00000320362.3_Silent_p.A115A			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	115					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AGAATTCCCGGGCGTCATACA	0.557																																																0													55	44	48					17																	73279618		2203	4300	6503	SO:0001819	synonymous_variant	60386				CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"Solute carriers"	14409	protein-coding gene	gene with protein product		606521	"solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19", "microcephaly, Amish"	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.345C>T	17.37:g.73279618G>A			E9PF74|Q6V9R7	Silent	SNP	ENST00000402418.3	37	CCDS11720.1																																																																																				0.557	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734		A	73279618	G	A	73279618	2	1	346	1	0	0	0	0	0	0	0	1	14487	1219	43	2		2	SLC25A19	17	73279618	Silent	SNP	G	TCGA-BP-4756-01A-01D-1366-10	35376607	73279618	7915592	42	19917											
CCDC57	284001	hgsc.bcm.edu	37	17	80130525	80130525	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr17:80130525G>A	ENST00000389641.4	-	11	1754	c.1718C>T	c.(1717-1719)gCc>gTc	p.A573V	CCDC57_ENST00000392347.1_Missense_Mutation_p.A573V|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.A573V			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	573										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGGAGTGGCGGCATCTCCCCC	0.592																																																0													25	29	27					17																	80130525		1970	4080	6050	SO:0001583	missense	284001			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1718C>T	17.37:g.80130525G>A	ENSP00000374292:p.Ala573Val		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37		.	.	.	.	.	.	.	.	.	.	G	11.86	1.765333	0.31228	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.23950	3.05;3.05;1.88	4.08	3.07	0.35406	.	1.418230	0.04486	N	0.378620	T	0.22205	0.0535	L	0.36672	1.1	0.20489	N	0.999899	B;B	0.25904	0.02;0.137	B;B	0.24155	0.05;0.051	T	0.12785	-1.0534	10	0.30854	T	0.27	0.1194	7.9294	0.29893	0.1187:0.0:0.8813:0.0	.	573;573	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	V	573;573;81;573	ENSP00000374292:A573V;ENSP00000376158:A573V;ENSP00000376154:A573V	ENSP00000315967:A81V	A	-	2	0	CCDC57	77723814	0.004000	0.15560	0.002000	0.10522	0.041000	0.13682	1.401000	0.34589	2.086000	0.62901	0.563000	0.77884	GCC		0.592	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		A	80130525	G	A	80130525	3	1	346	1	0	0	0	0	1	0	0	0	2829	1203	42	2	1057	2	CCDC57	17	80130525	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10	6850907	80130525	1064685	43	19918											
TYK2	7297	hgsc.bcm.edu	37	19	10468470	10468470	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr19:10468470C>G	ENST00000525621.1	-	17	2917	c.2436G>C	c.(2434-2436)gaG>gaC	p.E812D	TYK2_ENST00000529370.1_Missense_Mutation_p.E812D|TYK2_ENST00000524462.1_Missense_Mutation_p.E627D|TYK2_ENST00000264818.6_Missense_Mutation_p.E812D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	812	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCAGAGGGGCCTCTCCGTCAA	0.637																																																0													28	28	28					19																	10468470		2202	4300	6502	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2436G>C	19.37:g.10468470C>G	ENSP00000431885:p.Glu812Asp		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	3.139	-0.176794	0.06380	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.74	-0.076	0.13724	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000085	T	0.75191	0.3816	L	0.48642	1.525	0.33482	D	0.587559	B;B	0.26602	0.154;0.071	B;B	0.36030	0.216;0.107	T	0.67313	-0.5702	10	0.22706	T	0.39	-25.1044	6.7336	0.23397	0.0:0.4798:0.0:0.5202	.	812;812	E9PPF2;P29597	.;TYK2_HUMAN	D	627;812;812;559;812	ENSP00000433203:E627D;ENSP00000431885:E812D;ENSP00000264818:E812D;ENSP00000432728:E812D	ENSP00000264818:E812D	E	-	3	2	TYK2	10329470	0.000000	0.05858	0.932000	0.37286	0.016000	0.09150	-1.743000	0.01834	0.218000	0.20820	-0.140000	0.14226	GAG		0.637	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			G	10468470	C	G	10468470	3	3	346	1	0	0	0	0	1	0	0	0	16815	680	24	4	1163	4	TYK2	19	10468470	Missense_Mutation	SNP	C	TCGA-BP-4756-01A-01D-1366-10		10468470	48660513	44	19919											
ARHGAP35	2909	hgsc.bcm.edu;ucsc.edu	37	19	47424564	47424564	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr19:47424564C>A	ENST00000404338.3	+	1	2632	c.2632C>A	c.(2632-2634)Cag>Aag	p.Q878K		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	878					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TTGTGAAGTGCAGGATATTAT	0.453																																																0													127	124	125					19																	47424564		1955	4159	6114	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2632C>A	19.37:g.47424564C>A	ENSP00000385720:p.Gln878Lys		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319828	0.60634	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.43294	0.95	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	L	0.45137	1.4	0.80722	D	1	P	0.49961	0.93	P	0.45037	0.467	T	0.11842	-1.0571	10	0.29301	T	0.29	-30.094	18.8035	0.92028	0.0:1.0:0.0:0.0	.	878	Q9NRY4-2	.	K	878	ENSP00000385720:Q878K	ENSP00000324820:Q878K	Q	+	1	0	ARHGAP35	52116404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.743000	0.94032	0.655000	0.94253	CAG		0.453	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		A	47424564	C	A	47424564	3	1	346	1	0	0	0	0	1	0	0	0	6797	711	25	4	2634	4	ARHGAP35	19	47424564	Missense_Mutation	SNP	C	TCGA-BP-4756-01A-01D-1366-10	36956094	47424564	11704419	45	19920											
ARHGAP8	23779	hgsc.bcm.edu	37	22	45255656	45255656	+	Missense_Mutation	SNP	G	G	T	rs148303608		TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chr22:45255656G>T	ENST00000389774.2	+	12	1157	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	ARHGAP8_ENST00000336963.4_Intron|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.R308L|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.R430L|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.R518L|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.R439L|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.R518L	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	339	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CAGATCTTACGGAGCCTCCCA	0.667																																																0													79	67	71					22																	45255656		2203	4300	6503	SO:0001583	missense	23779			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.1016G>T	22.37:g.45255656G>T	ENSP00000374424:p.Arg339Leu		A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.210|8.210	0.800167|0.800167	0.16397|0.16397	.|.	.|.	ENSG00000248405|ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000515632|ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000356099	.|T;T;T;T;T;T	.|0.19394	.|2.15;2.15;2.15;2.15;2.15;2.15	4.14|4.14	-4.12|-4.12	0.03916|0.03916	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|1.671310	.|0.04113	.|U	.|0.314876	.|T	.|0.09158	.|0.0226	N|N	0.05510|0.05510	-0.035|-0.035	0.09310|0.09310	N|N	1|1	.|B;P;B;B;B	.|0.38992	.|0.082;0.653;0.011;0.025;0.166	.|B;B;B;B;B	.|0.32583	.|0.048;0.148;0.048;0.048;0.069	.|T	.|0.26744	.|-1.0094	.|10	.|0.42905	.|T	.|0.14	.|.	7.4653|7.4653	0.27318|0.27318	0.6815:0.1162:0.2023:0.0|0.6815:0.1162:0.2023:0.0	.|.	.|361;344;339;518;439	.|B7ZMA4;A2RU51;P85298;B1AHC4;B1AHC3	.|.;.;RHG08_HUMAN;.;.	X|L	379|439;518;518;430;339;308	.|ENSP00000354732:R439L;ENSP00000262731:R518L;ENSP00000429240:R518L;ENSP00000374423:R430L;ENSP00000374424:R339L;ENSP00000348407:R308L	.|ENSP00000348407:R308L	G|R	+|+	1|2	0|0	PRR5-ARHGAP8|PRR5-ARHGAP8;ARHGAP8	43634320|43634320	0.000000|0.000000	0.05858|0.05858	0.092000|0.092000	0.20876|0.20876	0.010000|0.010000	0.07245|0.07245	0.557000|0.557000	0.23454|0.23454	-0.403000|-0.403000	0.07622|0.07622	0.467000|0.467000	0.42956|0.42956	GGA|CGG		0.667	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		T	45255656	G	T	45255656	3	4	346	1	0	0	0	0	1	0	0	0	888	1116	39	4	1058	4	ARHGAP8	22	45255656	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10		45255656	6048910	46	19921											
CLCN5	1184	hgsc.bcm.edu;ucsc.edu	37	X	49853520	49853520	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chrX:49853520G>A	ENST00000307367.2	+	9	1804	c.1513G>A	c.(1513-1515)Gtt>Att	p.V505I	CLCN5_ENST00000376108.3_Missense_Mutation_p.V505I|CLCN5_ENST00000376088.3_Missense_Mutation_p.V575I|CLCN5_ENST00000376091.3_Missense_Mutation_p.V575I			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	505					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TTATGCAATGGTTGGGGCTGC	0.468																																																0													90	81	84					X																	49853520		2203	4300	6503	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1513G>A	X.37:g.49853520G>A	ENSP00000304257:p.Val505Ile		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186712	0.94885	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.54	5.54	0.83059	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	L	0.53780	1.695	0.80722	D	1	P;D	0.61697	0.544;0.99	P;D	0.73380	0.474;0.98	D	0.94754	0.7930	10	0.38643	T	0.18	-16.0045	17.459	0.87615	0.0:0.0:1.0:0.0	.	505;575	P51795;P51795-2	CLCN5_HUMAN;.	I	575;407;575;505;505	ENSP00000365256:V575I;ENSP00000365259:V575I;ENSP00000365276:V505I;ENSP00000304257:V505I	ENSP00000304257:V505I	V	+	1	0	CLCN5	49740260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.592000	0.98245	2.480000	0.83734	0.523000	0.50628	GTT		0.468	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			A	49853520	G	A	49853520	3	1	346	1	0	0	0	0	1	0	0	0	3468	1261	44	2	1761	2	CLCN5	23	49853520	Missense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10		49853520	105417040	47	19922											
ACTRT1	139741	hgsc.bcm.edu;ucsc.edu	37	X	127185831	127185831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chrX:127185831G>A	ENST00000371124.3	-	1	551	c.355C>T	c.(355-357)Cga>Tga	p.R119*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	119						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGCTTTTCTCGAATTTCCCTA	0.493																																																0													230	219	222					X																	127185831		2203	4300	6503	SO:0001587	stop_gained	139741			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.355C>T	X.37:g.127185831G>A	ENSP00000360165:p.Arg119*		Q6X7C1|Q96L10	Nonsense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434129	0.43224	.	.	ENSG00000123165	ENST00000371124	.	.	.	3.76	-1.72	0.08107	.	0.118284	0.36066	N	0.002818	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.9993	0.36072	0.0:0.1325:0.1935:0.674	.	.	.	.	X	119	.	ENSP00000360165:R119X	R	-	1	2	ACTRT1	127013512	0.995000	0.38212	0.003000	0.11579	0.034000	0.12701	0.291000	0.18994	-0.560000	0.06102	0.544000	0.68410	CGA		0.493	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		A	127185831	G	A	127185831	4	1	346	1	0	0	0	0	0	1	0	0	218	1066	37	1	779	1	ACTRT1	23	127185831	Nonsense_Mutation	SNP	G	TCGA-BP-4756-01A-01D-1366-10	77332311	127185831	28084729	48	19923											
SAGE1	55511	hgsc.bcm.edu;ucsc.edu	37	X	134992605	134992605	+	Silent	SNP	G	G	A			TCGA-BP-4756-01A-01D-1366-10	TCGA-BP-4756-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7ff2eeb7-4f50-4365-acca-4f67bc73fa38	7d113813-ebeb-4dfa-9fce-fa8f2aabab42	g.chrX:134992605G>A	ENST00000370709.3	+	15	1896	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	SAGE1_ENST00000535938.1_Silent_p.E632E|SAGE1_ENST00000537770.1_Silent_p.E256E|SAGE1_ENST00000324447.3_Silent_p.E632E			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	632						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCCGTGAAGAGAAGATAAATA	0.483																																																0													145	116	126					X																	134992605		2203	4300	6503	SO:0001819	synonymous_variant	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1896G>A	X.37:g.134992605G>A			Q5JNW0	Silent	SNP	ENST00000370709.3	37	CCDS14652.1																																																																																				0.483	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		A	134992605	G	A	134992605	2	1	346	1	0	0	0	0	0	0	0	1	13815	933	33	2		2	SAGE1	23	134992605	Silent	SNP	G	TCGA-BP-4756-01A-01D-1366-10	7806774	134992605	20277955	49	19924											
VHL	7428	hgsc.bcm.edu	37	3	10183871	10183871	+	Splice_Site	DEL	G	G	-			TCGA-BP-4758-01A-01W-1362-10	TCGA-BP-4758-11A-01W-1363-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	77986546-a7bb-4425-8cd1-01c22bdcac6b	8bce1fd2-0c1c-4d91-8455-763c2888128d	g.chr3:10183871delG	ENST00000256474.2	+	1	1180	c.340delG	c.(340-342)ggt>gt	p.G114fs	VHL_ENST00000345392.2_Splice_Site_p.V114fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	114	Involved in binding to CCT complex.		G -> C (in VHLD; type II). {ECO:0000269|PubMed:8956040}.|G -> R (in VHLD; type I-II).|G -> S (in VHLD; type II). {ECO:0000269|PubMed:8825918}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G114C(5)|p.G114R(4)|p.G114S(2)|p.Y112fs*1(2)|p.G114fs*45(1)|p.?(1)|p.S111fs*45(1)|p.G114fs*17(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAGCTACCGAGGTACGGGCCC	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Substitution - Missense(11)|Deletion - Frameshift(5)|Unknown(1)	kidney(17)	GRCh37	CM044739|CM941372|CM951284	VHL	M							10	11	10					3																	10183871		1848	3825	5673	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.340+1G>-	3.37:g.10183871delG			B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Frame_Shift_Del	-	10183871	G	-	10183871	8	5	347	1	0	1	0	1	0	0	1	0	17167	1014	35	0	342	0	VHL	3	10183871	Splice_Site	DEL	G	TCGA-BP-4758-01A-01W-1362-10		10183871	187838559	1	19925											
VHL	7428	hgsc.bcm.edu	37	3	10183725	10183725	+	Missense_Mutation	SNP	C	C	T	rs5030826		TCGA-BP-4759-01A-01W-1362-10	TCGA-BP-4759-11A-01W-1363-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	5f466419-8d6e-4bab-92b6-7678a006a720	ef9eaae7-3722-4232-9650-9837c345b865	g.chr3:10183725C>T	ENST00000256474.2	+	1	1034	c.194C>T	c.(193-195)tCg>tTg	p.S65L	VHL_ENST00000345392.2_Missense_Mutation_p.S65L|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7	11	9					3																	10183725		2133	4211	6344	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>T	3.37:g.10183725C>T	ENSP00000256474:p.Ser65Leu		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343095	0.82022	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99832	-7.02;-7.02	5.54	4.67	0.58626	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.055860	0.85682	N	0.000000	D	0.99306	0.9757	M	0.83774	2.66	0.33373	D	0.573818	P;P	0.49961	0.93;0.815	B;B	0.35899	0.213;0.209	D	0.99620	1.0983	10	0.87932	D	0	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	.	65;65	P40337-2;P40337	.;VHL_HUMAN	L	65	ENSP00000256474:S65L;ENSP00000344757:S65L	ENSP00000256474:S65L	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183725	C	T	10183725	3	4	348	1	0	0	0	0	1	0	0	0	17167	893	31	1	196	1	VHL	3	10183725	Missense_Mutation	SNP	C	TCGA-BP-4759-01A-01W-1362-10		10183725	187838705	1	19926											
CACHD1	57685	broad.mit.edu	37	1	65095121	65095121	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr1:65095121G>A	ENST00000371073.2	+	5	601	c.601G>A	c.(601-603)Gca>Aca	p.A201T	CACHD1_ENST00000290039.5_Missense_Mutation_p.A150T|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	201					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGTTTTCCCAGCACACAAGTT	0.403																																																0													156	143	147					1																	65095121		1863	4108	5971	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.601G>A	1.37:g.65095121G>A	ENSP00000360113:p.Ala201Thr		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	G	35	5.430886	0.96150	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.37235	1.21;1.23	5.75	5.75	0.90469	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.47509	-0.9112	10	0.62326	D	0.03	-17.5765	19.9598	0.97242	0.0:0.0:1.0:0.0	.	201	Q5VU97	CAHD1_HUMAN	T	201;150	ENSP00000360113:A201T;ENSP00000290039:A150T	ENSP00000290039:A150T	A	+	1	0	CACHD1	64867709	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.357000	0.97099	2.716000	0.92895	0.655000	0.94253	GCA		0.403	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		A	65095121	G	A	65095121	3	1	349	1	0	0	0	0	1	0	0	0	2539	971	34	2	466	2	CACHD1	1	65095121	Missense_Mutation	SNP	G	TCGA-BP-4760-01A-02D-1421-08		65095121	184155500	1	19927											
KCNA10	3744	broad.mit.edu	37	1	111059964	111059964	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr1:111059964T>G	ENST00000369771.2	-	1	1833	c.1446A>C	c.(1444-1446)agA>agC	p.R482S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	482					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TGTTGAGGATTCTTTCAATTT	0.463																																																0													194	178	183					1																	111059964		2203	4300	6503	SO:0001583	missense	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1446A>C	1.37:g.111059964T>G	ENSP00000358786:p.Arg482Ser			Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	T	1.168	-0.641818	0.03531	.	.	ENSG00000143105	ENST00000369771	D	0.96940	-4.18	5.65	-2.01	0.07410	.	1.173350	0.06216	N	0.685910	D	0.83617	0.5293	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.73867	-0.3847	10	0.25751	T	0.34	.	12.4326	0.55583	0.0:0.5658:0.0:0.4342	.	482	Q16322	KCA10_HUMAN	S	482	ENSP00000358786:R482S	ENSP00000358786:R482S	R	-	3	2	KCNA10	110861487	0.514000	0.26202	0.162000	0.22713	0.058000	0.15608	0.167000	0.16602	-0.371000	0.08004	0.379000	0.24179	AGA		0.463	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		G	111059964	T	G	111059964	3	3	349	1	0	0	0	0	1	0	0	0	8004	1780	62	5	93	5	KCNA10	1	111059964	Missense_Mutation	SNP	T	TCGA-BP-4760-01A-02D-1421-08	45964843	111059964	138190657	2	19928											
KIF14	9928	broad.mit.edu	37	1	200584483	200584483	+	Splice_Site	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr1:200584483G>A	ENST00000367350.4	-	3	1805	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	456	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|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)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TACAACTTACGTATATGATTT	0.383																																																0													84	88	87					1																	200584483		2203	4300	6503	SO:0001630	splice_region_variant	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1367+1C>T	1.37:g.200584483G>A			Q14CI8|Q4G0A5|Q5T1W3	Splice_Site	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077864	0.94000	.	.	ENSG00000118193	ENST00000367350	D	0.85702	-2.02	5.94	5.94	0.96194	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.96340	0.8806	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97515	1.0069	9	.	.	.	.	20.369	0.98888	0.0:0.0:1.0:0.0	.	456	Q15058	KIF14_HUMAN	M	456	ENSP00000356319:T456M	.	T	-	2	0	KIF14	198851106	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.374000	0.97172	2.819000	0.97034	0.650000	0.86243	ACG		0.383	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	Missense_Mutation	A	200584483	G	A	200584483	5	1	349	1	0	0	0	0	0	0	1	0	8278	1159	40	1	3691	1	KIF14	1	200584483	Splice_Site	SNP	G	TCGA-BP-4760-01A-02D-1421-08	89524519	200584483	48666138	3	19929											
OR2C3	81472	broad.mit.edu	37	1	247695757	247695757	+	Silent	SNP	G	G	A	rs61746303|rs386641879	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr1:247695757G>A	ENST00000366487.3	-	2	418	c.57C>T	c.(55-57)tcC>tcT	p.S19S	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S19S(1)|p.S18S(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGGTCGTGTGGAGAAGCCCA	0.488													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		19865	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	prostate(2)						G		8,4398	2.1+/-5.4	0,8,2195	78	73	74		57	-1.9	0.2	1	dbSNP_129	74	0,8600		0,0,4300	no	coding-synonymous	OR2C3	NM_198074.4		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		19/321	247695757	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	81472			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.57C>T	1.37:g.247695757G>A			Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	CCDS1634.2																																																																																				0.488	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		A	247695757	G	A	247695757	2	1	349	1	0	0	0	0	0	0	0	1	10995	1335	47	2		2	OR2C3	1	247695757	Silent	SNP	G	TCGA-BP-4760-01A-02D-1421-08	47111274	247695757	1554864	4	19930											
CCDC108	255101	broad.mit.edu	37	2	219892412	219892412	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr2:219892412C>A	ENST00000341552.5	-	13	2254	c.2171G>T	c.(2170-2172)tGc>tTc	p.C724F	CCDC108_ENST00000453220.1_Missense_Mutation_p.C724F|CCDC108_ENST00000409865.3_Missense_Mutation_p.C713F|CCDC108_ENST00000410037.1_Missense_Mutation_p.C659F|CCDC108_ENST00000441968.1_Missense_Mutation_p.C724F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	724						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGTAAAGGCAGTTGGGGTG	0.607																																																0													82	84	83					2																	219892412		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2171G>T	2.37:g.219892412C>A	ENSP00000340776:p.Cys724Phe		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087560	0.36855	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07327	3.55;3.55;3.55;3.2;3.21	5.18	0.948	0.19561	.	1.710990	0.02926	N	0.138648	T	0.11239	0.0274	L	0.44542	1.39	0.09310	N	1	P;P;P	0.44090	0.684;0.684;0.826	B;B;B	0.43103	0.328;0.328;0.408	T	0.30621	-0.9972	10	0.56958	D	0.05	-1.916	7.1038	0.25353	0.1133:0.3725:0.4412:0.073	.	713;658;724	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	F	724;724;724;200;713;659;658	ENSP00000340776:C724F;ENSP00000413377:C724F;ENSP00000409117:C724F;ENSP00000386945:C713F;ENSP00000386258:C659F	ENSP00000340776:C724F	C	-	2	0	CCDC108	219600656	0.662000	0.27439	0.076000	0.20297	0.857000	0.48899	0.315000	0.19451	0.302000	0.22762	0.655000	0.94253	TGC		0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		A	219892412	C	A	219892412	3	1	349	1	0	0	0	0	1	0	0	0	2745	710	25	4	3698	4	CCDC108	2	219892412	Missense_Mutation	SNP	C	TCGA-BP-4760-01A-02D-1421-08		219892412	23306961	5	19931											
UQCRC1	7384	broad.mit.edu	37	3	48638261	48638261	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr3:48638261G>A	ENST00000203407.5	-	9	1395	c.979C>T	c.(979-981)Cca>Tca	p.P327S		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	327					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAAGCCAGTGGGCTGGACAGG	0.597																																					NSCLC(81;1112 1427 27031 32409 45529)											0													53	52	53					3																	48638261		2203	4300	6503	SO:0001583	missense	7384			BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.979C>T	3.37:g.48638261G>A	ENSP00000203407:p.Pro327Ser		B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381563	0.42207	.	.	ENSG00000010256	ENST00000203407	T	0.28454	1.61	5.72	4.85	0.62838	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.153823	0.64402	N	0.000016	T	0.32010	0.0815	M	0.63843	1.955	0.29620	N	0.846266	B;B	0.18310	0.002;0.027	B;B	0.26094	0.019;0.066	T	0.28744	-1.0034	10	0.48119	T	0.1	-6.3852	9.413	0.38503	0.0758:0.0:0.7474:0.1769	.	212;327	B4DUL5;P31930	.;QCR1_HUMAN	S	327	ENSP00000203407:P327S	ENSP00000203407:P327S	P	-	1	0	UQCRC1	48613265	0.999000	0.42202	1.000000	0.80357	0.877000	0.50540	2.903000	0.48711	1.431000	0.47355	0.561000	0.74099	CCA		0.597	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		A	48638261	G	A	48638261	3	1	349	1	0	0	0	0	1	0	0	0	17024	1232	43	2	483	2	UQCRC1	3	48638261	Missense_Mutation	SNP	G	TCGA-BP-4760-01A-02D-1421-08		48638261	149384169	6	19932											
TFG	10342	broad.mit.edu	37	3	100432611	100432611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr3:100432611delA	ENST00000240851.4	+	2	422	c.82delA	c.(82-84)aatfs	p.N28fs	TFG_ENST00000490574.1_Frame_Shift_Del_p.N28fs|TFG_ENST00000476228.1_Frame_Shift_Del_p.N28fs|TFG_ENST00000418917.2_Frame_Shift_Del_p.N28fs	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	28					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TCCTATTCATAATGAAGATAT	0.373			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																		Dom	yes		3	3q11-q12	10342	TRK-fused gene		"E, L"	0													101	99	100					3																	100432611		2203	4300	6503	SO:0001589	frameshift_variant	10342			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.82delA	3.37:g.100432611delA	ENSP00000240851:p.Asn28fs		D3DN49|G5E9V1|Q15656|Q969I2	Frame_Shift_Del	DEL	ENST00000240851.4	37	CCDS2939.1																																																																																				0.373	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		-	100432611	A	-	100432611	7	5	349	1	0	1	0	1	0	0	0	0	15811	362	13	0	84	0	TFG	3	100432611	Frame_Shift_Del	DEL	A	TCGA-BP-4760-01A-02D-1421-08	51794350	100432611	97589819	7	19933											
GK5	256356	broad.mit.edu	37	3	141934478	141934478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr3:141934478C>T	ENST00000392993.2	-	2	355	c.204G>A	c.(202-204)tgG>tgA	p.W68*	GK5_ENST00000544571.1_Nonsense_Mutation_p.W68*|GK5_ENST00000466685.3_5'UTR	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	68					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CAAATTGAATCCAAAGAACAT	0.284																																																0													46	45	45					3																	141934478		2201	4294	6495	SO:0001587	stop_gained	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"Glycerol kinases"	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.204G>A	3.37:g.141934478C>T	ENSP00000418001:p.Trp68*		B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Nonsense_Mutation	SNP	ENST00000392993.2	37	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731855	0.89390	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4745	17.7567	0.88451	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000418001:W68X	W	-	3	0	GK5	143417168	0.998000	0.40836	0.949000	0.38748	0.729000	0.41735	4.895000	0.63214	2.478000	0.83669	0.585000	0.79938	TGG		0.284	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		T	141934478	C	T	141934478	4	4	349	1	0	0	0	0	0	1	0	0	6424	856	30	2	1445	2	GK5	3	141934478	Nonsense_Mutation	SNP	C	TCGA-BP-4760-01A-02D-1421-08	41501867	141934478	56087952	8	19934											
MLF1	4291	broad.mit.edu	37	3	158315963	158315963	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr3:158315963A>G	ENST00000355893.5	+	4	512	c.374A>G	c.(373-375)cAg>cGg	p.Q125R	MLF1_ENST00000469452.1_Intron|MLF1_ENST00000471745.1_Missense_Mutation_p.Q115R|MLF1_ENST00000392822.3_Missense_Mutation_p.Q156R|MLF1_ENST00000484955.1_Missense_Mutation_p.Q100R|MLF1_ENST00000482628.1_Missense_Mutation_p.Q100R|MLF1_ENST00000478894.2_Missense_Mutation_p.Q115R|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000359117.5_Missense_Mutation_p.Q100R	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	125	Interaction with COPS3.				cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			AAGGTTTTTCAGGCCTCAACT	0.393			T	NPM1	AML																																		Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	0													70	71	71					3																	158315963		2203	4300	6503	SO:0001583	missense	4291			L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"myeloid leukemia factor 1 variant 1", "myeloid leukemia factor 1 variant 2", "myeloid leukemia factor 1 variant 3"	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.374A>G	3.37:g.158315963A>G	ENSP00000348157:p.Gln125Arg		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	ENST00000355893.5	37	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699503	0.88830	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	T;T;T;T;T;T;T;T;T	0.56103	0.56;0.49;0.54;0.54;0.57;0.49;0.54;0.49;0.48	5.44	5.44	0.79542	.	0.067945	0.64402	D	0.000012	T	0.74635	0.3742	M	0.82193	2.58	0.47245	D	0.999366	D;D	0.89917	1.0;0.999	D;D	0.85130	0.993;0.997	T	0.78275	-0.2267	10	0.56958	D	0.05	-13.542	15.5082	0.75757	1.0:0.0:0.0:0.0	.	156;125	Q8N8F8;P58340	.;MLF1_HUMAN	R	51;125;100;100;80;115;115;100;115;156;140	ENSP00000420410:Q51R;ENSP00000348157:Q125R;ENSP00000417835:Q100R;ENSP00000352025:Q100R;ENSP00000419636:Q80R;ENSP00000420134:Q115R;ENSP00000417141:Q100R;ENSP00000417777:Q115R;ENSP00000376568:Q156R	ENSP00000348157:Q125R	Q	+	2	0	MLF1	159798657	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.485000	0.73625	2.072000	0.62099	0.460000	0.39030	CAG		0.393	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443		G	158315963	A	G	158315963	3	3	349	1	0	0	0	0	1	0	0	0	9616	188	7	3	388	3	MLF1	3	158315963	Missense_Mutation	SNP	A	TCGA-BP-4760-01A-02D-1421-08	16381485	158315963	39706467	9	19935											
ARAP2	116984	broad.mit.edu	37	4	36081903	36081903	+	Splice_Site	SNP	T	T	C			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr4:36081903T>C	ENST00000303965.4	-	31	5034		c.e31-2			NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2						regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CACAGGTGCCTGCAAAACGAG	0.403																																																0													87	81	83					4																	36081903		2203	4300	6503	SO:0001630	splice_region_variant	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4545-2A>G	4.37:g.36081903T>C			Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Splice_Site	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357433	0.61293	.	.	ENSG00000047365	ENST00000303965	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2176	0.54414	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARAP2	35758298	1.000000	0.71417	0.985000	0.45067	0.701000	0.40568	4.267000	0.58877	2.133000	0.65898	0.528000	0.53228	.		0.403	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	Intron	C	36081903	T	C	36081903	5	2	349	1	0	0	0	0	0	0	1	0	839	1594	55	3	583	3	ARAP2	4	36081903	Splice_Site	SNP	T	TCGA-BP-4760-01A-02D-1421-08		36081903	155072373	10	19936											
NUDT12	83594	broad.mit.edu	37	5	102894748	102894748	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr5:102894748G>A	ENST00000230792.2	-	3	724	c.628C>T	c.(628-630)Ctt>Ttt	p.L210F	NUDT12_ENST00000515407.1_5'Flank|NUDT12_ENST00000507423.1_Missense_Mutation_p.L192F	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	210					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GCATAATTAAGTAGTTTGTCT	0.403																																																0													89	91	90					5																	102894748		2202	4300	6502	SO:0001583	missense	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.628C>T	5.37:g.102894748G>A	ENSP00000230792:p.Leu210Phe		B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.752384	0.00663	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.18502	3.43;2.21	5.85	-4.36	0.03645	NADH pyrophosphatase-like, N-terminal (1);	2.214670	0.01480	N	0.016634	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21449	-1.0245	10	0.11485	T	0.65	1.6513	1.8404	0.03149	0.2109:0.126:0.4459:0.2172	.	192;210	E7EM93;Q9BQG2	.;NUD12_HUMAN	F	210;192	ENSP00000230792:L210F;ENSP00000424521:L192F	ENSP00000230792:L210F	L	-	1	0	NUDT12	102922647	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.441000	0.06879	-0.466000	0.06943	-0.133000	0.14855	CTT		0.403	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		A	102894748	G	A	102894748	3	1	349	1	0	0	0	0	1	0	0	0	10730	1029	36	2	780	2	NUDT12	5	102894748	Missense_Mutation	SNP	G	TCGA-BP-4760-01A-02D-1421-08		102894748	78020512	11	19937											
SLC36A1	206358	broad.mit.edu	37	5	150838431	150838431	+	Silent	SNP	G	G	A	rs142064945		TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr5:150838431G>A	ENST00000243389.3	+	2	301	c.78G>A	c.(76-78)tcG>tcA	p.S26S	SLC36A1_ENST00000520701.1_Silent_p.S26S|SLC36A1_ENST00000429484.2_Silent_p.S26S|SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000521925.1_Silent_p.S26S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	26					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	AGAGCCCGTCGGAAGGCCTCA	0.602																																					Melanoma(151;1534 1860 12947 32979 37872)											0								G		1,4405	2.1+/-5.4	0,1,2202	69	65	67		78	-11.1	0	5	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	SLC36A1	NM_078483.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		26/477	150838431	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	206358			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.78G>A	5.37:g.150838431G>A			C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Silent	SNP	ENST00000243389.3	37	CCDS4316.1																																																																																				0.602	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		A	150838431	G	A	150838431	2	1	349	1	0	0	0	0	0	0	0	1	14599	1103	39	1		1	SLC36A1	5	150838431	Silent	SNP	G	TCGA-BP-4760-01A-02D-1421-08	47943683	150838431	30076829	12	19938											
RARS	5917	broad.mit.edu	37	5	167919717	167919717	+	Silent	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr5:167919717C>T	ENST00000231572.3	+	3	288	c.234C>T	c.(232-234)agC>agT	p.S78S	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	78					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ACATTATTAGCCGCCTACAAG	0.408																																																0													109	110	109					5																	167919717		2203	4300	6503	SO:0001819	synonymous_variant	5917			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.234C>T	5.37:g.167919717C>T			B2RBS9|Q53GY4|Q9BWA1	Silent	SNP	ENST00000231572.3	37	CCDS4367.1																																																																																				0.408	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		T	167919717	C	T	167919717	2	4	349	1	0	0	0	0	0	0	0	1	13064	738	26	2		2	RARS	5	167919717	Silent	SNP	C	TCGA-BP-4760-01A-02D-1421-08	17081286	167919717	12995543	13	19939											
SLC22A23	63027	broad.mit.edu	37	6	3324228	3324228	+	Silent	SNP	G	G	A	rs151139208	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr6:3324228G>A	ENST00000406686.3	-	4	921	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	SLC22A23_ENST00000380302.4_Silent_p.L27L|SLC22A23_ENST00000380298.2_Silent_p.L308L|SLC22A23_ENST00000433689.2_5'UTR|SLC22A23_ENST00000490273.1_Silent_p.L27L|SLC22A23_ENST00000436008.2_Silent_p.L308L	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	308					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GGGGGGCACAGCTCTATTCCT	0.602													G|||	9	0.00179712	0.0068	0.0	5008	,	,		19280	0.0		0.0	False		,,,				2504	0.0															0								G	,	22,4384	29.9+/-59.1	0,22,2181	64	62	63		922,79	4.5	1	6	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC22A23	NM_015482.1,NM_021945.5	,	0,22,6481	AA,AG,GG		0.0,0.4993,0.1692	,	308/687,27/406	3324228	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	63027			AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.922C>T	6.37:g.3324228G>A			A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	CCDS47363.1																																																																																				0.602	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		A	3324228	G	A	3324228	2	1	349	1	0	0	0	0	0	0	0	1	14458	962	34	2		2	SLC22A23	6	3324228	Silent	SNP	G	TCGA-BP-4760-01A-02D-1421-08		3324228	167790839	14	19940											
DSP	1832	broad.mit.edu	37	6	7570788	7570788	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr6:7570788A>G	ENST00000379802.3	+	13	2034	c.1693A>G	c.(1693-1695)Atc>Gtc	p.I565V	DSP_ENST00000418664.2_Missense_Mutation_p.I565V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	565	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGCCATGACAATCGCCAAGGT	0.557																																																0													134	125	128					6																	7570788		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1693A>G	6.37:g.7570788A>G	ENSP00000369129:p.Ile565Val		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115844	0.37339	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.74737	-0.52;-0.87	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000014	T	0.43853	0.1266	N	0.12887	0.27	0.40558	D	0.981186	B;B	0.12630	0.002;0.006	B;B	0.06405	0.002;0.001	T	0.41556	-0.9502	10	0.30854	T	0.27	.	15.9377	0.79729	1.0:0.0:0.0:0.0	.	612;565	Q4LE79;P15924	.;DESP_HUMAN	V	565;565;370	ENSP00000369129:I565V;ENSP00000396591:I565V	ENSP00000369129:I565V	I	+	1	0	DSP	7515787	0.996000	0.38824	0.906000	0.35671	0.675000	0.39556	3.388000	0.52509	2.159000	0.67721	0.528000	0.53228	ATC		0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		G	7570788	A	G	7570788	3	3	349	1	0	0	0	0	1	0	0	0	4783	101	4	3	1743	3	DSP	6	7570788	Missense_Mutation	SNP	A	TCGA-BP-4760-01A-02D-1421-08	4246560	7570788	163544279	15	19941											
ATXN1	6310	broad.mit.edu	37	6	16328215	16328215	+	Silent	SNP	C	C	T	rs114230242	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr6:16328215C>T	ENST00000244769.4	-	8	1263	c.327G>A	c.(325-327)ccG>ccA	p.P109P	ATXN1_ENST00000436367.1_Silent_p.P109P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	109					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TCCCTGGCTGCGGGGTGGCGT	0.642													C|||	4	0.000798722	0.0008	0.0	5008	,	,		14585	0.0		0.003	False		,,,				2504	0.0															0								C	,	0,4406		0,0,2203	53	57	55		327,327	-3.2	0.4	6	dbSNP_133	55	18,8582	14.6+/-50.1	0,18,4282	no	coding-synonymous,coding-synonymous	ATXN1	NM_000332.3,NM_001128164.1	,	0,18,6485	TT,TC,CC		0.2093,0.0,0.1384	,	109/816,109/816	16328215	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.327G>A	6.37:g.16328215C>T			Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	CCDS34342.1																																																																																				0.642	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		T	16328215	C	T	16328215	2	4	349	1	0	0	0	0	0	0	0	1	1209	755	27	1		1	ATXN1	6	16328215	Silent	SNP	C	TCGA-BP-4760-01A-02D-1421-08	8757427	16328215	154786852	16	19942											
KIFC1	3833	broad.mit.edu	37	6	33374019	33374019	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr6:33374019G>A	ENST00000428849.2	+	8	2033	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	528	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						GCTGTGGCCCGCACAGCCCAG	0.607																																																0													63	74	71					6																	33374019		2203	4300	6503	SO:0001583	missense	3833			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.1583G>A	6.37:g.33374019G>A	ENSP00000393963:p.Arg528His		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	g	14.20	2.464579	0.43736	.	.	ENSG00000237649	ENST00000428849	T	0.74947	-0.89	5.29	2.52	0.30459	Kinesin, motor domain (4);	0.368199	0.29501	N	0.011962	T	0.31949	0.0813	N	0.11724	0.165	0.33777	D	0.62375	B;B	0.32425	0.241;0.371	B;B	0.28784	0.064;0.094	T	0.04565	-1.0942	10	0.35671	T	0.21	-26.1235	7.3144	0.26493	0.3411:0.0:0.6589:0.0	.	520;528	B4E063;Q9BW19	.;KIFC1_HUMAN	H	528	ENSP00000393963:R528H	ENSP00000393963:R528H	R	+	2	0	KIFC1	33481997	1.000000	0.71417	0.994000	0.49952	0.847000	0.48162	1.933000	0.40153	0.355000	0.24131	0.558000	0.71614	CGC		0.607	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		A	33374019	G	A	33374019	3	1	349	1	0	0	0	0	1	0	0	0	8314	1087	38	1	1613	1	KIFC1	6	33374019	Missense_Mutation	SNP	G	TCGA-BP-4760-01A-02D-1421-08	17045804	33374019	137741048	17	19943											
CBLL1	79872	broad.mit.edu	37	7	107399418	107399418	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr7:107399418A>T	ENST00000440859.3	+	6	1738	c.1271A>T	c.(1270-1272)tAt>tTt	p.Y424F	CBLL1_ENST00000222597.2_Missense_Mutation_p.Y423F	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	424	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CCTCACCATTATAATCCTAAC	0.502																																																0													182	164	170					7																	107399418		2203	4300	6503	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1271A>T	7.37:g.107399418A>T	ENSP00000401277:p.Tyr424Phe		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151239	0.57151	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597	T;T	0.52526	0.66;0.66	4.99	4.99	0.66335	.	0.197669	0.45361	D	0.000361	T	0.65123	0.2661	M	0.63843	1.955	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.70935	0.971;0.971	T	0.69224	-0.5201	10	0.87932	D	0	-3.2085	14.6774	0.68989	1.0:0.0:0.0:0.0	.	423;424	B7ZM03;Q75N03	.;HAKAI_HUMAN	F	424;303;423	ENSP00000401277:Y424F;ENSP00000222597:Y423F	ENSP00000222597:Y423F	Y	+	2	0	CBLL1	107186654	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.282000	0.89907	1.883000	0.54544	0.240000	0.17902	TAT		0.502	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		T	107399418	A	T	107399418	3	4	349	1	0	0	0	0	1	0	0	0	2705	449	16	5	1293	5	CBLL1	7	107399418	Missense_Mutation	SNP	A	TCGA-BP-4760-01A-02D-1421-08		107399418	51739245	18	19944											
FBXO43	286151	broad.mit.edu	37	8	101154158	101154158	+	Silent	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr8:101154158A>G	ENST00000428847.2	-	2	640	c.324T>C	c.(322-324)ccT>ccC	p.P108P		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	108					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTGAAGTTTCAGGGTGCTCAT	0.358																																																0													105	96	99					8																	101154158		1811	4070	5881	SO:0001819	synonymous_variant	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.324T>C	8.37:g.101154158A>G				Silent	SNP	ENST00000428847.2	37	CCDS47904.1																																																																																				0.358	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		G	101154158	A	G	101154158	2	3	349	1	0	0	0	0	0	0	0	1	5754	175	7	3		3	FBXO43	8	101154158	Silent	SNP	A	TCGA-BP-4760-01A-02D-1421-08		101154158	45209864	19	19945											
PTPRD	5789	broad.mit.edu	37	9	8484279	8484279	+	Silent	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr9:8484279G>A	ENST00000381196.4	-	27	3796	c.3253C>T	c.(3253-3255)Ctg>Ttg	p.L1085L	PTPRD_ENST00000397611.3_Silent_p.L671L|PTPRD_ENST00000537002.1_Silent_p.L671L|PTPRD_ENST00000360074.4_Silent_p.L1072L|PTPRD_ENST00000358503.5_Silent_p.L1063L|PTPRD_ENST00000486161.1_Silent_p.L674L|PTPRD_ENST00000397617.3_Silent_p.L664L|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000540109.1_Silent_p.L1085L|PTPRD_ENST00000356435.5_Silent_p.L1085L|PTPRD_ENST00000355233.5_Silent_p.L674L|PTPRD_ENST00000397606.3_Silent_p.L664L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1085	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGATTTGTCAGCACAAATGAA	0.468										TSP Lung(15;0.13)																																						0													120	105	110					9																	8484279		2203	4300	6503	SO:0001819	synonymous_variant	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3253C>T	9.37:g.8484279G>A			B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																				0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			A	8484279	G	A	8484279	2	1	349	1	0	0	0	0	0	0	0	1	12805	962	34	2		2	PTPRD	9	8484279	Silent	SNP	G	TCGA-BP-4760-01A-02D-1421-08		8484279	132729152	20	19946											
KIF24	347240	broad.mit.edu	37	9	34259681	34259681	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr9:34259681C>T	ENST00000402558.2	-	9	1562	c.1538G>A	c.(1537-1539)gGc>gAc	p.G513D	KIF24_ENST00000379166.2_Missense_Mutation_p.G513D|KIF24_ENST00000345050.2_Missense_Mutation_p.G379D|KIF24_ENST00000379174.3_Missense_Mutation_p.G379D			Q5T7B8	KIF24_HUMAN	kinesin family member 24	513	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTGGCATTGCCGATGAAAGA	0.493																																																0													331	254	280					9																	34259681		2203	4300	6503	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1538G>A	9.37:g.34259681C>T	ENSP00000384433:p.Gly513Asp		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	34	5.322304	0.95708	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.71	5.71	0.89125	Kinesin, motor domain (4);	0.000000	0.47852	D	0.000213	D	0.94902	0.8352	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96213	0.9154	10	0.87932	D	0	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	513;513	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	D	513;379;513;379;513	ENSP00000384433:G513D;ENSP00000368472:G379D;ENSP00000368464:G513D;ENSP00000340179:G379D	ENSP00000340179:G379D	G	-	2	0	KIF24	34249681	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.829000	0.75314	2.687000	0.91594	0.655000	0.94253	GGC		0.493	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			T	34259681	C	T	34259681	3	4	349	1	0	0	0	0	1	0	0	0	8294	739	26	2	2584	2	KIF24	9	34259681	Missense_Mutation	SNP	C	TCGA-BP-4760-01A-02D-1421-08	25775402	34259681	106953750	21	19947											
TLR4	7099	broad.mit.edu	37	9	120475351	120475351	+	Silent	SNP	G	G	C			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr9:120475351G>C	ENST00000355622.6	+	3	1046	c.945G>C	c.(943-945)ctG>ctC	p.L315L	TLR4_ENST00000394487.4_Silent_p.L275L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	315					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CATTTTCCCTGGTGAGTGTGA	0.318																																																0													73	80	78					9																	120475351		2203	4299	6502	SO:0001819	synonymous_variant	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.945G>C	9.37:g.120475351G>C			A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	CCDS6818.1																																																																																				0.318	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		C	120475351	G	C	120475351	2	2	349	1	0	0	0	0	0	0	0	1	15958	1335	47	4		4	TLR4	9	120475351	Silent	SNP	G	TCGA-BP-4760-01A-02D-1421-08	86215670	120475351	20738080	22	19948											
LRP4	4038	broad.mit.edu	37	11	46924371	46924371	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr11:46924371G>T	ENST00000378623.1	-	2	404	c.162C>A	c.(160-162)gaC>gaA	p.D54E		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	54	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGCAGTCATTGTCTCCATCAC	0.607																																																0													90	82	85					11																	46924371		2201	4299	6500	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.162C>A	11.37:g.46924371G>T	ENSP00000367888:p.Asp54Glu		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660928	0.88154	.	.	ENSG00000134569	ENST00000378623	D	0.95171	-3.63	5.86	5.86	0.93980	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	L	0.31526	0.94	0.58432	D	0.999998	B	0.25563	0.129	B	0.29524	0.103	D	0.86986	0.2107	10	0.14252	T	0.57	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	54	O75096	LRP4_HUMAN	E	54	ENSP00000367888:D54E	ENSP00000367888:D54E	D	-	3	2	LRP4	46880947	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.698000	0.61789	2.775000	0.95449	0.655000	0.94253	GAC		0.607	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		T	46924371	G	T	46924371	3	4	349	1	0	0	0	0	1	0	0	0	8961	1368	48	4	5703	4	LRP4	11	46924371	Missense_Mutation	SNP	G	TCGA-BP-4760-01A-02D-1421-08		46924371	88082145	23	19949											
PACSIN3	29763	broad.mit.edu	37	11	47200712	47200712	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr11:47200712C>T	ENST00000539589.1	-	8	1240	c.898G>A	c.(898-900)Gag>Aag	p.E300K	ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000419701.2_5'Flank|PACSIN3_ENST00000298838.6_Missense_Mutation_p.E300K|ARFGAP2_ENST00000319543.6_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	300	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						ACACATGCCTCGAACTGTGGC	0.627																																																0													130	139	136					11																	47200712		2201	4298	6499	SO:0001583	missense	29763			AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"syndapin III"	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.898G>A	11.37:g.47200712C>T	ENSP00000440945:p.Glu300Lys		A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	CCDS31481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.674082|4.674082	0.88445|0.88445	.|.	.|.	ENSG00000165912|ENSG00000165912	ENST00000298838;ENST00000539589;ENST00000528462|ENST00000533686	T;T;T|.	0.39056|.	1.1;1.1;1.1|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.202869|.	0.40908|.	D|.	0.000998|.	T|T	0.74015|0.74015	0.3661|0.3661	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70227|.	0.968|.	T|T	0.74844|0.74844	-0.3526|-0.3526	10|5	0.30854|.	T|.	0.27|.	-35.7125|-35.7125	12.5331|12.5331	0.56126|0.56126	0.0:0.9233:0.0:0.0767|0.0:0.9233:0.0:0.0767	.|.	300|.	Q9UKS6|.	PACN3_HUMAN|.	K|Q	300|22	ENSP00000298838:E300K;ENSP00000440945:E300K;ENSP00000437252:E300K|.	ENSP00000298838:E300K|.	E|R	-|-	1|2	0|0	PACSIN3|PACSIN3	47157288|47157288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	6.041000|6.041000	0.70988|0.70988	2.606000|2.606000	0.88127|0.88127	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.627	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		T	47200712	C	T	47200712	3	4	349	1	0	0	0	0	1	0	0	0	11378	893	31	1	392	1	PACSIN3	11	47200712	Missense_Mutation	SNP	C	TCGA-BP-4760-01A-02D-1421-08	276341	47200712	87805804	24	19950											
SF3B2	10992	broad.mit.edu	37	11	65820518	65820518	+	Silent	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr11:65820518G>A	ENST00000322535.6	+	3	250	c.201G>A	c.(199-201)cgG>cgA	p.R67R	SF3B2_ENST00000528302.1_Silent_p.R67R|snoU13_ENST00000459530.1_RNA	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	67					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TGCTGAATCGGCCGGTTTTGA	0.488																																																0													197	200	199					11																	65820518		2201	4296	6497	SO:0001819	synonymous_variant	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.201G>A	11.37:g.65820518G>A			A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772285	0.31411	.	.	ENSG00000087365	ENST00000533421	.	.	.	4.99	0.946	0.19549	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	-23.1439	1.6377	0.02746	0.1804:0.1636:0.4875:0.1685	.	.	.	.	D	18	.	.	G	+	2	0	SF3B2	65577094	0.992000	0.36948	0.996000	0.52242	0.997000	0.91878	0.132000	0.15891	0.013000	0.14918	0.655000	0.94253	GGC		0.488	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			A	65820518	G	A	65820518	2	1	349	1	0	0	0	0	0	0	0	1	14157	1190	42	2		2	SF3B2	11	65820518	Silent	SNP	G	TCGA-BP-4760-01A-02D-1421-08	18619806	65820518	69185998	25	19951											
WNK1	65125	broad.mit.edu	37	12	995245	995245	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr12:995245G>T	ENST00000315939.6	+	19	5918	c.5275G>T	c.(5275-5277)Gct>Tct	p.A1759S	WNK1_ENST00000535572.1_Missense_Mutation_p.A1512S|WNK1_ENST00000537687.1_Missense_Mutation_p.A2019S|WNK1_ENST00000340908.4_Missense_Mutation_p.A1352S|WNK1_ENST00000530271.2_Missense_Mutation_p.A2257S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1759					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTAACTAAGGCTCCGGTAAA	0.398																																					Colon(19;451 567 6672 12618 28860)											0													53	53	53					12																	995245		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5275G>T	12.37:g.995245G>T	ENSP00000313059:p.Ala1759Ser		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	8.211	0.800390	0.16397	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.69926	-0.44;-0.4;-0.41;-0.43;0.76	5.87	-2.63	0.06133	.	0.804575	0.11209	N	0.587936	T	0.41880	0.1178	N	0.14661	0.345	0.22571	N	0.998974	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.12967	-1.0527	10	0.51188	T	0.08	-0.5482	4.0792	0.09919	0.2009:0.2922:0.4155:0.0913	.	1512;1512;1759	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	S	1512;1759;2019;932;2257;1352	ENSP00000441972:A1512S;ENSP00000313059:A1759S;ENSP00000444465:A2019S;ENSP00000433548:A2257S;ENSP00000341292:A1352S	ENSP00000252477:A932S	A	+	1	0	WNK1	865506	1.000000	0.71417	0.646000	0.29493	0.127000	0.20565	1.127000	0.31357	-1.122000	0.02945	-0.795000	0.03280	GCT		0.398	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		T	995245	G	T	995245	3	4	349	1	0	0	0	0	1	0	0	0	17382	1203	42	4	6851	4	WNK1	12	995245	Missense_Mutation	SNP	G	TCGA-BP-4760-01A-02D-1421-08		995245	132856650	26	19952											
CD9	928	broad.mit.edu	37	12	6334633	6334633	+	Silent	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr12:6334633A>G	ENST00000382518.1	+	3	544	c.108A>G	c.(106-108)cgA>cgG	p.R36R	CD9_ENST00000382515.2_5'UTR|CD9_ENST00000009180.4_Silent_p.R36R|CD9_ENST00000481267.1_3'UTR			P21926	CD9_HUMAN	CD9 molecule	36					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						TATGGCTCCGATTCGACTCTC	0.488																																																0													192	167	175					12																	6334633		2203	4300	6503	SO:0001819	synonymous_variant	928			M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"CD molecules", "Tetraspanins"	1709	protein-coding gene	gene with protein product	"motility related protein-1"	143030	"CD9 antigen (p24)"	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.108A>G	12.37:g.6334633A>G			D3DUQ9|Q5J7W6|Q96ES4	Silent	SNP	ENST00000382518.1	37	CCDS8540.1																																																																																				0.488	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1			G	6334633	A	G	6334633	2	3	349	1	0	0	0	0	0	0	0	1	3048	320	12	3		3	CD9	12	6334633	Silent	SNP	A	TCGA-BP-4760-01A-02D-1421-08	5339388	6334633	127517262	27	19953											
TM7SF3	51768	broad.mit.edu	37	12	27143451	27143451	+	Missense_Mutation	SNP	G	G	A	rs191006418	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr12:27143451G>A	ENST00000343028.4	-	6	1025	c.800C>T	c.(799-801)gCt>gTt	p.A267V	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	267						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AATGTAGGCAGCAGATGTATT	0.448													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19124	0.0		0.0	False		,,,				2504	0.001															0													139	123	129					12																	27143451		2203	4300	6503	SO:0001583	missense	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.800C>T	12.37:g.27143451G>A	ENSP00000342322:p.Ala267Val		B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	CCDS8710.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.9	5.041499	0.93685	.	.	ENSG00000064115	ENST00000343028;ENST00000545344;ENST00000543655;ENST00000535819	T;T;T	0.57907	0.84;0.37;0.37	5.0	5.0	0.66597	.	0.051228	0.85682	D	0.000000	T	0.65165	0.2665	M	0.72894	2.215	0.80722	D	1	D	0.61080	0.989	P	0.51806	0.68	T	0.71293	-0.4636	10	0.87932	D	0	-11.8597	18.6684	0.91501	0.0:0.0:1.0:0.0	.	267	Q9NS93	TM7S3_HUMAN	V	267;10;58;58	ENSP00000342322:A267V;ENSP00000441924:A58V;ENSP00000445156:A58V	ENSP00000342322:A267V	A	-	2	0	TM7SF3	27034718	1.000000	0.71417	0.994000	0.49952	0.863000	0.49368	8.845000	0.92153	2.479000	0.83701	0.585000	0.79938	GCT		0.448	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		A	27143451	G	A	27143451	3	1	349	1	0	0	0	0	1	0	0	0	15980	971	34	2	940	2	TM7SF3	12	27143451	Missense_Mutation	SNP	G	TCGA-BP-4760-01A-02D-1421-08	20808818	27143451	106708444	28	19954											
SLC22A17	51310	broad.mit.edu	37	14	23816939	23816939	+	Splice_Site	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr14:23816939A>G	ENST00000206544.8	-	7	1282	c.946T>C	c.(946-948)Ttc>Ctc	p.F316L	SLC22A17_ENST00000397260.3_Splice_Site_p.F205L|SLC22A17_ENST00000354772.3_Splice_Site_p.F316L|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Splice_Site_p.F316L	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	316					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TGGGCAATGAAGCTGTGAGAA	0.642																																																0													57	64	61					14																	23816939		2203	4300	6503	SO:0001630	splice_region_variant	51310			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.945-1T>C	14.37:g.23816939A>G			A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Splice_Site	SNP	ENST00000206544.8	37	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	A	5.923	0.354412	0.11239	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.04	5.04	0.67666	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.152934	0.45867	D	0.000333	T	0.58524	0.2128	N	0.17248	0.465	0.54753	D	0.999982	P;P	0.36909	0.453;0.573	B;B	0.40565	0.159;0.333	T	0.63625	-0.6595	10	0.54805	T	0.06	-17.6565	12.3969	0.55391	1.0:0.0:0.0:0.0	.	316;316	Q8WUG5-2;Q8WUG5	.;S22AH_HUMAN	L	316;205;316;316	ENSP00000346824:F316L;ENSP00000380430:F205L;ENSP00000206544:F316L;ENSP00000380437:F316L	ENSP00000206544:F316L	F	-	1	0	SLC22A17	22886779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.803000	0.62546	2.125000	0.65367	0.533000	0.62120	TTC		0.642	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372	Missense_Mutation	G	23816939	A	G	23816939	5	3	349	1	0	0	0	0	0	0	1	0	14454	86	3	3	682	3	SLC22A17	14	23816939	Splice_Site	SNP	A	TCGA-BP-4760-01A-02D-1421-08		23816939	83532601	29	19955											
HERC2	8924	broad.mit.edu	37	15	28375699	28375699	+	Silent	SNP	G	G	A	rs61756151	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr15:28375699G>A	ENST00000261609.7	-	82	12720	c.12612C>T	c.(12610-12612)tgC>tgT	p.C4204C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTGGGATCCGCATTCCACTT	0.418													G|||	24	0.00479233	0.0	0.0029	5008	,	,		19360	0.0		0.003	False		,,,				2504	0.0194															0								G		1,4405	2.1+/-5.4	0,1,2202	185	196	192		12612	-1	1	15	dbSNP_129	192	32,8568	22.8+/-68.1	0,32,4268	no	coding-synonymous	HERC2	NM_004667.4		0,33,6470	AA,AG,GG		0.3721,0.0227,0.2537		4204/4835	28375699	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12612C>T	15.37:g.28375699G>A				Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28375699	G	A	28375699	2	1	349	1	0	0	0	0	0	0	0	1	7060	1079	38	1		1	HERC2	15	28375699	Silent	SNP	G	TCGA-BP-4760-01A-02D-1421-08		28375699	74155693	30	19956											
NPRL3	8131	broad.mit.edu	37	16	139794	139794	+	Missense_Mutation	SNP	G	G	A	rs200792895		TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr16:139794G>A	ENST00000399953.3	-	11	1670	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.P244L|Z69720.2_ENST00000601483.1_RNA	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	423					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						GTCCTCTCGCGGACGGGGCTC	0.667																																																0								G	LEU/PRO,LEU/PRO	1,4347		0,1,2173	19	27	25		731,1268	-1.8	0	16		25	4,8522		0,4,4259	yes	missense,missense	NPRL3	NM_001039476.2,NM_001077350.2	98,98	0,5,6432	AA,AG,GG		0.0469,0.023,0.0388	benign,benign	244/391,423/570	139794	5,12869	2174	4263	6437	SO:0001583	missense	8131				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.1268C>T	16.37:g.139794G>A	ENSP00000382834:p.Pro423Leu		D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37		.	.	.	.	.	.	.	.	.	.	G	1.923	-0.447953	0.04572	2.3E-4	4.69E-4	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	4.95	-1.82	0.07857	.	0.812780	0.11853	N	0.523155	T	0.26774	0.0655	.	.	.	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.19128	-1.0315	8	0.27785	T	0.31	-26.5384	10.9451	0.47296	0.3433:0.0:0.6567:0.0	.	345;398;398;423	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	L	423;398;244	.	ENSP00000262313:P398L	P	-	2	0	NPRL3	79794	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	0.387000	0.20718	-0.485000	0.06754	-0.263000	0.10527	CCG		0.667	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		A	139794	G	A	139794	3	1	349	1	0	0	0	0	1	0	0	0	10600	1116	39	1	452	1	NPRL3	16	139794	Missense_Mutation	SNP	G	TCGA-BP-4760-01A-02D-1421-08		139794	90214959	31	19957											
DNAH3	55567	broad.mit.edu	37	16	21108814	21108814	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr16:21108814T>C	ENST00000261383.3	-	18	2526	c.2527A>G	c.(2527-2529)Aat>Gat	p.N843D	DNAH3_ENST00000415178.1_Missense_Mutation_p.N843D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	843	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCTCCTTATTGATCAACTGC	0.478																																																0													116	95	102					16																	21108814		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2527A>G	16.37:g.21108814T>C	ENSP00000261383:p.Asn843Asp		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673407	0.88445	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.26518	1.73;1.81	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.55213	1.73	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.39333	-0.9619	10	0.72032	D	0.01	.	15.5807	0.76432	0.0:0.0:0.0:1.0	.	843	Q8TD57	DYH3_HUMAN	D	843	ENSP00000261383:N843D;ENSP00000394245:N843D	ENSP00000261383:N843D	N	-	1	0	DNAH3	21016315	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.584000	0.74057	2.179000	0.69175	0.528000	0.53228	AAT		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		C	21108814	T	C	21108814	3	2	349	1	0	0	0	0	1	0	0	0	4605	1812	63	3	10002	3	DNAH3	16	21108814	Missense_Mutation	SNP	T	TCGA-BP-4760-01A-02D-1421-08	20969020	21108814	69245939	32	19958											
KRT25	147183	broad.mit.edu	37	17	38907252	38907252	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr17:38907252C>T	ENST00000312150.4	-	5	971	c.911G>A	c.(910-912)cGc>cAc	p.R304H		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGAAGAGTGCGCTTCATTTC	0.473																																																0													124	122	123					17																	38907252		2203	4300	6503	SO:0001583	missense	147183			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.911G>A	17.37:g.38907252C>T	ENSP00000310573:p.Arg304His			Missense_Mutation	SNP	ENST00000312150.4	37	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878808	0.91740	.	.	ENSG00000204897	ENST00000312150	D	0.90504	-2.68	5.84	5.84	0.93424	Filament (1);	0.000000	0.64402	D	0.000005	D	0.95345	0.8489	M	0.74546	2.27	0.44227	D	0.997062	D	0.89917	1.0	D	0.83275	0.996	D	0.94344	0.7573	9	.	.	.	.	20.1533	0.98095	0.0:1.0:0.0:0.0	.	304	Q7Z3Z0	K1C25_HUMAN	H	304	ENSP00000310573:R304H	.	R	-	2	0	KRT25	36160778	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	3.708000	0.54845	2.758000	0.94735	0.655000	0.94253	CGC		0.473	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		T	38907252	C	T	38907252	3	4	349	1	0	0	0	0	1	0	0	0	8464	768	27	1	457	1	KRT25	17	38907252	Missense_Mutation	SNP	C	TCGA-BP-4760-01A-02D-1421-08		38907252	42287958	33	19959											
ARHGAP35	2909	broad.mit.edu	37	19	47424644	47424644	+	Silent	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr19:47424644G>A	ENST00000404338.3	+	1	2712	c.2712G>A	c.(2710-2712)caG>caA	p.Q904Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	904					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GTAGGGAACAGCTAACTGAGG	0.463																																																0													108	106	107					19																	47424644		1979	4164	6143	SO:0001819	synonymous_variant	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2712G>A	19.37:g.47424644G>A			A7E2A4|Q14452|Q9C0E1	Silent	SNP	ENST00000404338.3	37	CCDS46127.1																																																																																				0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		A	47424644	G	A	47424644	2	1	349	1	0	0	0	0	0	0	0	1	6797	962	34	2		2	ARHGAP35	19	47424644	Silent	SNP	G	TCGA-BP-4760-01A-02D-1421-08		47424644	11704339	34	19960											
PEG3	5178	broad.mit.edu	37	19	57327002	57327002	+	Silent	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr19:57327002A>G	ENST00000326441.9	-	10	3171	c.2808T>C	c.(2806-2808)cgT>cgC	p.R936R	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.R936R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.R810R|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.R812R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	936					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTTTTAGCACGAGCCTTCT	0.453																																																0													128	127	127					19																	57327002		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2808T>C	19.37:g.57327002A>G			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			G	57327002	A	G	57327002	2	3	349	1	0	0	0	0	0	0	0	1	11722	146	6	3		3	PEG3	19	57327002	Silent	SNP	A	TCGA-BP-4760-01A-02D-1421-08	9902358	57327002	1801981	35	19961											
SULF2	55959	broad.mit.edu	37	20	46294036	46294036	+	Splice_Site	SNP	A	A	G	rs550567421	byFrequency	TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr20:46294036A>G	ENST00000359930.4	-	14	2755	c.1904T>C	c.(1903-1905)aTt>aCt	p.I635T	SULF2_ENST00000361612.4_Splice_Site_p.I635T|SULF2_ENST00000484875.1_Splice_Site_p.I635T|SULF2_ENST00000467815.1_Splice_Site_p.I635T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	635					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.I635T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CAGGGTTTCAATCTGAGGGAG	0.532													A|||	2	0.000399361	0.0	0.0014	5008	,	,		17262	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	lung(1)											117	119	119					20																	46294036		2203	4300	6503	SO:0001630	splice_region_variant	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1903-1T>C	20.37:g.46294036A>G			E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Splice_Site	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.306352	0.81247	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	D;D;D;D	0.99598	-6.26;-6.26;-6.25;-6.25	5.15	5.15	0.70609	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	M	0.79805	2.47	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98052	1.0388	10	0.87932	D	0	-15.3764	14.9677	0.71208	1.0:0.0:0.0:0.0	.	635;635	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	T	635;635;635;54;635	ENSP00000353007:I635T;ENSP00000418290:I635T;ENSP00000354662:I635T;ENSP00000418442:I635T	ENSP00000353007:I635T	I	-	2	0	SULF2	45727443	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	9.308000	0.96247	1.939000	0.56221	0.379000	0.24179	ATT		0.532	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	Missense_Mutation	G	46294036	A	G	46294036	5	3	349	1	0	0	0	0	0	0	1	0	15376	115	4	3	740	3	SULF2	20	46294036	Splice_Site	SNP	A	TCGA-BP-4760-01A-02D-1421-08		46294036	16731484	36	19962											
RRP1B	23076	broad.mit.edu	37	21	45096683	45096683	+	Silent	SNP	T	T	C			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr21:45096683T>C	ENST00000340648.4	+	8	801	c.684T>C	c.(682-684)ccT>ccC	p.P228P		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	228					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)	p.P228P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CTTTTGTGCCTGAAGAGACGA	0.507																																																1	Substitution - coding silent(1)	prostate(1)											147	124	132					21																	45096683		2203	4300	6503	SO:0001819	synonymous_variant	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.684T>C	21.37:g.45096683T>C			Q8TBZ4	Silent	SNP	ENST00000340648.4	37	CCDS33577.1																																																																																				0.507	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		C	45096683	T	C	45096683	2	2	349	1	0	0	0	0	0	0	0	1	13694	1567	55	3		3	RRP1B	21	45096683	Silent	SNP	T	TCGA-BP-4760-01A-02D-1421-08		45096683	3033212	37	19963											
BRD1	23774	broad.mit.edu	37	22	50217548	50217548	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chr22:50217548A>G	ENST00000216267.8	-	1	904	c.418T>C	c.(418-420)Tac>Cac	p.Y140H	BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.Y140H|BRD1_ENST00000457780.2_Missense_Mutation_p.Y140H|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.Y140H|BRD1_ENST00000342989.5_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	140					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATGAACTTGTAGTACACAGGA	0.637																																																0													80	71	74					22																	50217548		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.418T>C	22.37:g.50217548A>G	ENSP00000216267:p.Tyr140His		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.200691	0.58126	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.83	4.83	0.62350	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.71324	-0.4627	9	.	.	.	.	14.4054	0.67079	1.0:0.0:0.0:0.0	.	140;140;140	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	H	140	ENSP00000216267:Y140H;ENSP00000384076:Y140H;ENSP00000385858:Y140H;ENSP00000410042:Y140H	.	Y	-	1	0	BRD1	48603552	1.000000	0.71417	0.998000	0.56505	0.513000	0.34164	8.667000	0.91153	1.804000	0.52760	0.445000	0.29226	TAC		0.637	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		G	50217548	A	G	50217548	3	3	349	1	0	0	0	0	1	0	0	0	1503	420	15	3	2806	3	BRD1	22	50217548	Missense_Mutation	SNP	A	TCGA-BP-4760-01A-02D-1421-08		50217548	1087018	38	19964											
GPRASP1	9737	broad.mit.edu	37	X	101913005	101913005	+	Silent	SNP	C	C	T			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chrX:101913005C>T	ENST00000361600.5	+	5	4965	c.4164C>T	c.(4162-4164)gaC>gaT	p.D1388D	GPRASP1_ENST00000415986.1_Silent_p.D1388D|GPRASP1_ENST00000444152.1_Silent_p.D1388D|GPRASP1_ENST00000537097.1_Silent_p.D1388D|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1388	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCAAAATGACCCTGAAGGGG	0.368																																																0													20	19	19					X																	101913005		2189	4231	6420	SO:0001819	synonymous_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.4164C>T	X.37:g.101913005C>T			O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	CCDS35352.1																																																																																				0.368	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		T	101913005	C	T	101913005	2	4	349	1	0	0	0	0	0	0	0	1	6724	506	18	2		2	GPRASP1	23	101913005	Silent	SNP	C	TCGA-BP-4760-01A-02D-1421-08		101913005	53357555	39	19965											
GUCY2F	2986	broad.mit.edu	37	X	108638655	108638655	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4760-01A-02D-1421-08	TCGA-BP-4760-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1f1d02-342e-47f2-a6c7-21ca53464fb8	4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956	g.chrX:108638655G>A	ENST00000218006.2	-	12	2630	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	780	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTCTGGAGGGGCATGCTCAGG	0.458																																																0													191	170	177					X																	108638655		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2339C>T	X.37:g.108638655G>A	ENSP00000218006:p.Ala780Val		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971089	0.74246	.	.	ENSG00000101890	ENST00000218006	D	0.83163	-1.69	4.14	3.28	0.37604	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.106321	0.64402	D	0.000005	T	0.81941	0.4929	L	0.55834	1.745	0.54753	D	0.999982	P	0.38048	0.616	P	0.48334	0.574	T	0.75850	-0.3172	10	0.21014	T	0.42	.	9.0738	0.36508	0.1123:0.0:0.8877:0.0	.	780	P51841	GUC2F_HUMAN	V	780	ENSP00000218006:A780V	ENSP00000218006:A780V	A	-	2	0	GUCY2F	108525311	1.000000	0.71417	0.177000	0.23020	0.986000	0.74619	6.013000	0.70776	1.093000	0.41377	0.506000	0.49869	GCC		0.458	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		A	108638655	G	A	108638655	3	1	349	1	0	0	0	0	1	0	0	0	6900	1203	42	2	1019	2	GUCY2F	23	108638655	Missense_Mutation	SNP	G	TCGA-BP-4760-01A-02D-1421-08	6725650	108638655	46631905	40	19966											
NASP	4678	hgsc.bcm.edu;ucsc.edu	37	1	46083164	46083164	+	Silent	SNP	A	A	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:46083164A>G	ENST00000350030.3	+	14	2274	c.2187A>G	c.(2185-2187)aaA>aaG	p.K729K	NASP_ENST00000351223.3_Silent_p.K390K|NASP_ENST00000402363.3_Silent_p.K731K|NASP_ENST00000372052.4_Silent_p.K363K|NASP_ENST00000537798.1_Silent_p.K665K|NASP_ENST00000530073.1_3'UTR	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	729					blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GTCCCCGGAAAGATGATGCAA	0.448																																																0													86	86	86					1																	46083164		2203	4300	6503	SO:0001819	synonymous_variant	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.2187A>G	1.37:g.46083164A>G			A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Silent	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	A	9.660	1.143874	0.21205	.	.	ENSG00000132780	ENST00000531612	T	0.53640	0.61	4.56	3.39	0.38822	.	0.197009	0.52532	D	0.000080	T	0.46889	0.1416	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25882	-1.0119	7	0.24483	T	0.36	-17.3222	10.6029	0.45377	0.9223:0.0:0.0777:0.0	.	.	.	.	R	229	ENSP00000437116:K229R	ENSP00000437116:K229R	K	+	2	0	NASP	45855751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.309000	0.59135	0.832000	0.34804	0.460000	0.39030	AAG		0.448	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		G	46083164	A	G	46083164	2	3	350	1	0	0	0	0	0	0	0	1	10174	69	3	3		3	NASP	1	46083164	Silent	SNP	A	TCGA-BP-4761-01A-01D-1366-10		46083164	203167457	1	19967											
BEND5	79656	hgsc.bcm.edu	37	1	49202004	49202004	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:49202004T>C	ENST00000371833.3	-	5	1101	c.1015A>G	c.(1015-1017)Aaa>Gaa	p.K339E	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	339	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						CTTCTGTTTTTCAGAACATCT	0.468																																																0													162	152	155					1																	49202004		2203	4300	6503	SO:0001583	missense	79656			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"BEN domain containing"	25668	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 165"	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.1015A>G	1.37:g.49202004T>C	ENSP00000360899:p.Lys339Glu		D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	CCDS552.2	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565394	0.86439	.	.	ENSG00000162373	ENST00000371833;ENST00000294347	T	0.44482	0.92	5.35	5.35	0.76521	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	L	0.27053	0.805	0.58432	D	0.999994	D	0.69078	0.997	D	0.77004	0.989	T	0.46148	-0.9212	9	.	.	.	-1.9664	14.5028	0.67734	0.0:0.0:0.0:1.0	.	339	Q7L4P6	BEND5_HUMAN	E	339;51	ENSP00000360899:K339E	.	K	-	1	0	BEND5	48974591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.035000	0.60131	0.454000	0.30748	AAA		0.468	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		C	49202004	T	C	49202004	3	2	350	1	0	0	0	0	1	0	0	0	1401	1792	62	3	258	3	BEND5	1	49202004	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10	3118840	49202004	200048617	2	19968											
ZNF644	84146	hgsc.bcm.edu;ucsc.edu	37	1	91404914	91404914	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:91404914C>A	ENST00000370440.1	-	3	2214	c.1997G>T	c.(1996-1998)gGa>gTa	p.G666V	ZNF644_ENST00000337393.5_Missense_Mutation_p.G666V|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	666					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGAGGTTGATCCAAATGTTCG	0.378																																																0													139	138	138					1																	91404914		2203	4300	6503	SO:0001583	missense	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1997G>T	1.37:g.91404914C>A	ENSP00000359469:p.Gly666Val		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566723	0.28003	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00630	6.1;6.1	6.02	5.08	0.68730	.	0.115539	0.64402	D	0.000015	T	0.00524	0.0017	L	0.51422	1.61	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.64947	-0.6287	10	0.49607	T	0.09	-15.2539	17.4209	0.87515	0.0:0.8761:0.1239:0.0	.	666	Q9H582	ZN644_HUMAN	V	666;666;238	ENSP00000359469:G666V;ENSP00000337008:G666V	ENSP00000337008:G666V	G	-	2	0	ZNF644	91177502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.498000	0.35660	2.850000	0.98022	0.650000	0.86243	GGA		0.378	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		A	91404914	C	A	91404914	3	1	350	1	0	0	0	0	1	0	0	0	18065	855	30	4	2002	4	ZNF644	1	91404914	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	42202910	91404914	157845707	3	19969											
BCAS2	10286	hgsc.bcm.edu	37	1	115112664	115112664	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:115112664C>G	ENST00000369541.3	-	6	547	c.500G>C	c.(499-501)aGa>aCa	p.R167T	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	167					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGTTCTTTCTCTGCCAGTT	0.294																																																0													105	96	99					1																	115112664		2201	4298	6499	SO:0001583	missense	10286			AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.500G>C	1.37:g.115112664C>G	ENSP00000358554:p.Arg167Thr		Q6FGS0	Missense_Mutation	SNP	ENST00000369541.3	37	CCDS874.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745511	0.89663	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.36	5.36	0.76844	.	0.055739	0.64402	D	0.000001	D	0.83599	0.5289	M	0.89785	3.06	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.86510	0.1809	9	0.87932	D	0	-17.1148	19.4399	0.94815	0.0:1.0:0.0:0.0	.	167	O75934	SPF27_HUMAN	T	167	.	ENSP00000358554:R167T	R	-	2	0	BCAS2	114914187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.362000	0.79507	2.672000	0.90937	0.655000	0.94253	AGA		0.294	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032871.1	NM_005872		G	115112664	C	G	115112664	3	3	350	1	0	0	0	0	1	0	0	0	1351	913	32	4	185	4	BCAS2	1	115112664	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	23707750	115112664	134137957	4	19970											
TTF2	8458	hgsc.bcm.edu;ucsc.edu	37	1	117641487	117641487	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:117641487G>A	ENST00000369466.4	+	22	3346	c.3302G>A	c.(3301-3303)cGa>cAa	p.R1101Q	TTF2_ENST00000480701.1_3'UTR	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1101	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GCTTGTGACCGAATTTACCGA	0.438																																																0													145	133	137					1																	117641487		2203	4300	6503	SO:0001583	missense	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3302G>A	1.37:g.117641487G>A	ENSP00000358478:p.Arg1101Gln		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438678	0.96168	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	D;D	0.99143	-5.48;-5.48	5.22	5.22	0.72569	Helicase, C-terminal (3);	0.000000	0.31472	N	0.007596	D	0.99701	0.9886	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97184	0.9853	10	0.87932	D	0	-13.6715	16.6163	0.84917	0.0:0.0:1.0:0.0	.	1101	Q9UNY4	TTF2_HUMAN	Q	1101;82	ENSP00000358478:R1101Q;ENSP00000408111:R82Q	ENSP00000358478:R1101Q	R	+	2	0	TTF2	117443010	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.301000	0.96167	2.594000	0.87642	0.462000	0.41574	CGA		0.438	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			A	117641487	G	A	117641487	3	1	350	1	0	0	0	0	1	0	0	0	16724	1058	37	1	3388	1	TTF2	1	117641487	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	2528823	117641487	131609134	5	19971											
MAN1A2	10905	hgsc.bcm.edu;ucsc.edu	37	1	117984948	117984948	+	Splice_Site	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:117984948G>A	ENST00000356554.3	+	6	1685		c.e6+1			NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2						cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		ATTTGAAAAGGTAACTCTATG	0.358																																					Ovarian(33;199 881 8228 13687 31538)											1	Unknown(1)	skin(1)											101	102	102					1																	117984948		2203	4300	6503	SO:0001630	splice_region_variant	10905			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.950+1G>A	1.37:g.117984948G>A			Q9H510	Splice_Site	SNP	ENST00000356554.3	37	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314702	0.81358	.	.	ENSG00000198162	ENST00000356554;ENST00000369450;ENST00000449370	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5985	0.76606	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAN1A2	117786471	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.989000	0.88205	2.743000	0.94032	0.591000	0.81541	.		0.358	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699	Intron	A	117984948	G	A	117984948	5	1	350	1	0	0	0	0	0	0	1	0	9213	1275	44	2	973	2	MAN1A2	1	117984948	Splice_Site	SNP	G	TCGA-BP-4761-01A-01D-1366-10	343461	117984948	131265673	6	19972											
ACP6	51205	hgsc.bcm.edu;ucsc.edu	37	1	147119248	147119248	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:147119248T>G	ENST00000369238.6	-	10	1711	c.1264A>C	c.(1264-1266)Atg>Ctg	p.M422L	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	422					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CCAACTTCCATCACCTGAGTT	0.423																																																0													161	158	159					1																	147119248		2203	4300	6503	SO:0001583	missense	51205			BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.1264A>C	1.37:g.147119248T>G	ENSP00000358241:p.Met422Leu		Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	CCDS928.1	.	.	.	.	.	.	.	.	.	.	T	3.259	-0.151517	0.06585	.	.	ENSG00000162836	ENST00000369238	T	0.10192	2.9	4.35	-6.89	0.01660	.	1.504300	0.03535	N	0.223014	T	0.01156	0.0038	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41502	-0.9505	10	0.10377	T	0.69	.	1.6508	0.02771	0.1192:0.2953:0.2451:0.3404	.	422	Q9NPH0	PPA6_HUMAN	L	422	ENSP00000358241:M422L	ENSP00000358241:M422L	M	-	1	0	ACP6	145585872	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.189000	0.09629	-1.546000	0.01717	-1.249000	0.01516	ATG		0.423	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		G	147119248	T	G	147119248	3	3	350	1	0	0	0	0	1	0	0	0	165	1435	50	5	26	5	ACP6	1	147119248	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10	29134300	147119248	102131373	7	19973											
SV2A	9900	hgsc.bcm.edu	37	1	149883492	149883492	+	Silent	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:149883492G>A	ENST00000369146.3	-	3	1153	c.663C>T	c.(661-663)ctC>ctT	p.L221L	SV2A_ENST00000369145.1_Silent_p.L221L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	221					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACCTCCCCAGAGGAAGGCTC	0.577																																																0													54	44	47					1																	149883492		2203	4300	6503	SO:0001819	synonymous_variant	9900			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.663C>T	1.37:g.149883492G>A			D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	CCDS940.1																																																																																				0.577	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			A	149883492	G	A	149883492	2	1	350	1	0	0	0	0	0	0	0	1	15422	929	33	2		2	SV2A	1	149883492	Silent	SNP	G	TCGA-BP-4761-01A-01D-1366-10	2764244	149883492	99367129	8	19974											
GON4L	54856	hgsc.bcm.edu	37	1	155733233	155733233	+	Silent	SNP	T	T	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:155733233T>C	ENST00000368331.1	-	22	4644	c.4596A>G	c.(4594-4596)gcA>gcG	p.A1532A	GON4L_ENST00000437809.1_Silent_p.A1532A|GON4L_ENST00000271883.5_Silent_p.A1532A|GON4L_ENST00000471341.1_5'Flank	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1532	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCATTCcttctgcttcttctt	0.502																																																0													39	39	39					1																	155733233		1968	4178	6146	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4596A>G	1.37:g.155733233T>C			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37																																																																																					0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		C	155733233	T	C	155733233	2	2	350	1	0	0	0	0	0	0	0	1	6574	1567	55	3		3	GON4L	1	155733233	Silent	SNP	T	TCGA-BP-4761-01A-01D-1366-10	5849741	155733233	93517388	9	19975											
ATF6	22926	hgsc.bcm.edu;ucsc.edu	37	1	161736220	161736220	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:161736220G>T	ENST00000367942.3	+	1	137	c.70G>T	c.(70-72)Gat>Tat	p.D24Y	RP11-474I16.8_ENST00000431097.2_RNA	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	24	Transcription activation.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TCACAGGCTGGATGAAGATTG	0.577																																																0													79	76	77					1																	161736220		2203	4300	6503	SO:0001583	missense	22926			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.70G>T	1.37:g.161736220G>T	ENSP00000356919:p.Asp24Tyr		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090098	0.36855	.	.	ENSG00000118217	ENST00000367942	T	0.15603	2.41	4.52	2.65	0.31530	.	1.252660	0.05510	N	0.559995	T	0.07999	0.0200	L	0.40543	1.245	0.30447	N	0.7756609999999999	B;P	0.38922	0.34;0.651	B;B	0.41946	0.371;0.172	T	0.31336	-0.9947	9	0.66056	D	0.02	-15.5103	7.0903	0.25279	0.206:0.0:0.794:0.0	.	24;25	P18850;Q59H30	ATF6A_HUMAN;.	Y	24	ENSP00000356919:D24Y	ENSP00000356919:D24Y	D	+	1	0	ATF6	160002844	0.817000	0.29147	0.054000	0.19295	0.835000	0.47333	2.418000	0.44662	0.640000	0.30582	0.561000	0.74099	GAT		0.577	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		T	161736220	G	T	161736220	3	4	350	1	0	0	0	0	1	0	0	0	1084	1174	41	4	72	4	ATF6	1	161736220	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	6002987	161736220	87514401	10	19976											
DUSP27	92235	hgsc.bcm.edu;ucsc.edu	37	1	167096184	167096184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:167096184G>T	ENST00000361200.2	+	6	1982	c.1816G>T	c.(1816-1818)Gag>Tag	p.E606*	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E606*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E606*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	606					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGAGAACAAGGAGGAGGTGGT	0.607																																																0													51	50	50					1																	167096184		2203	4300	6503	SO:0001587	stop_gained	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1816G>T	1.37:g.167096184G>T	ENSP00000354483:p.Glu606*		A0AUM4|Q9C074	Nonsense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	40	7.987504	0.98596	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.22	4.31	0.51392	.	0.168757	0.37623	N	0.002004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.9768	15.9944	0.80230	0.0:0.1349:0.8651:0.0	.	.	.	.	X	606	.	ENSP00000271385:E606X	E	+	1	0	DUSP27	165362808	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.462000	0.66707	1.201000	0.43203	-0.134000	0.14843	GAG		0.607	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		T	167096184	G	T	167096184	4	4	350	1	0	0	0	0	0	1	0	0	4826	1175	41	4	1834	4	DUSP27	1	167096184	Nonsense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	5359964	167096184	82154437	11	19977											
RCSD1	92241	hgsc.bcm.edu	37	1	167663408	167663408	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:167663408G>T	ENST00000367854.3	+	5	674	c.343G>T	c.(343-345)Gtg>Ttg	p.V115L	RCSD1_ENST00000537350.1_Missense_Mutation_p.V85L	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	115					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CAAGGCTATGGTGTCGCCATT	0.567																																																0													87	81	83					1																	167663408		2203	4300	6503	SO:0001583	missense	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.343G>T	1.37:g.167663408G>T	ENSP00000356828:p.Val115Leu		B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395190	0.83011	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.49720	0.8;0.77	5.18	5.18	0.71444	.	0.254159	0.34603	N	0.003826	T	0.45776	0.1359	L	0.39085	1.19	0.29635	N	0.845137	D;D	0.76494	0.999;0.999	D;D	0.76071	0.963;0.987	T	0.38222	-0.9671	9	0.30078	T	0.28	-24.5326	12.4402	0.55621	0.0767:0.0:0.9233:0.0	.	85;115	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	L	115;91;85	ENSP00000356828:V115L;ENSP00000439409:V85L	ENSP00000355291:V91L	V	+	1	0	RCSD1	165930032	0.998000	0.40836	0.975000	0.42487	0.955000	0.61496	2.940000	0.49003	2.572000	0.86782	0.655000	0.94253	GTG		0.567	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		T	167663408	G	T	167663408	3	4	350	1	0	0	0	0	1	0	0	0	13191	1261	44	4	361	4	RCSD1	1	167663408	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	567224	167663408	81587213	12	19978											
SCYL3	57147	hgsc.bcm.edu;ucsc.edu	37	1	169831811	169831811	+	Silent	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:169831811G>A	ENST00000367770.1	-	9	1130	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	RN7SL333P_ENST00000476398.2_RNA|SCYL3_ENST00000367772.4_Silent_p.I361I|SCYL3_ENST00000367771.6_Silent_p.I361I|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	361					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CGTAGGCCTCGATGTGAGACA	0.547																																																0													230	216	220					1																	169831811		2203	4300	6503	SO:0001819	synonymous_variant	57147			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1083C>T	1.37:g.169831811G>A			A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Silent	SNP	ENST00000367770.1	37	CCDS1287.1																																																																																				0.547	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		A	169831811	G	A	169831811	2	1	350	1	0	0	0	0	0	0	0	1	13955	1048	37	1		1	SCYL3	1	169831811	Silent	SNP	G	TCGA-BP-4761-01A-01D-1366-10	2168403	169831811	79418810	13	19979											
TNR	7143	hgsc.bcm.edu;ucsc.edu	37	1	175372418	175372418	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:175372418G>T	ENST00000367674.2	-	4	1542	c.834C>A	c.(832-834)aaC>aaA	p.N278K	TNR_ENST00000263525.2_Missense_Mutation_p.N278K			Q92752	TENR_HUMAN	tenascin R	278	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AACAGGTACCGTTGGCACATC	0.622																																																0													139	90	107					1																	175372418		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.834C>A	1.37:g.175372418G>T	ENSP00000356646:p.Asn278Lys		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994809	0.54041	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.11277	2.79;2.79	6.04	-6.62	0.01813	.	0.000000	0.85682	D	0.000000	T	0.21427	0.0516	L	0.55743	1.74	0.52099	D	0.999945	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.927	T	0.02004	-1.1231	10	0.45353	T	0.12	.	15.6405	0.76997	0.7102:0.0:0.2898:0.0	.	278;278	B4DIX8;Q92752	.;TENR_HUMAN	K	278	ENSP00000356646:N278K;ENSP00000263525:N278K	ENSP00000263525:N278K	N	-	3	2	TNR	173639041	0.003000	0.15002	0.794000	0.32065	0.256000	0.26092	-1.236000	0.02925	-1.264000	0.02452	-0.367000	0.07326	AAC		0.622	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175372418	G	T	175372418	3	4	350	1	0	0	0	0	1	0	0	0	16343	1136	40	4	3322	4	TNR	1	175372418	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	5540607	175372418	73878203	14	19980											
PAPPA2	60676	hgsc.bcm.edu;ucsc.edu	37	1	176525830	176525830	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:176525830G>T	ENST00000367662.3	+	2	1536	c.372G>T	c.(370-372)gaG>gaT	p.E124D	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E124D	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	124					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGTTGAAGAGCCGGCTGCCC	0.532																																																0													114	114	114					1																	176525830		2049	4198	6247	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.372G>T	1.37:g.176525830G>T	ENSP00000356634:p.Glu124Asp		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	8.441	0.850797	0.17034	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.30981	4.75;1.51	4.33	1.35	0.21983	.	1.402880	0.05017	U	0.471976	T	0.17023	0.0409	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.26815	-1.0092	10	0.54805	T	0.06	-0.6937	5.2127	0.15327	0.0897:0.1436:0.6219:0.1449	.	124;124	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	D	124	ENSP00000356634:E124D;ENSP00000356633:E124D	ENSP00000356633:E124D	E	+	3	2	PAPPA2	174792453	0.000000	0.05858	0.061000	0.19648	0.000000	0.00434	0.014000	0.13333	-0.166000	0.10890	-1.268000	0.01426	GAG		0.532	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			T	176525830	G	T	176525830	3	4	350	1	0	0	0	0	1	0	0	0	11435	962	34	4	374	4	PAPPA2	1	176525830	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	1153412	176525830	72724791	15	19981											
LAMB3	3914	hgsc.bcm.edu	37	1	209796913	209796913	+	Silent	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:209796913G>A	ENST00000356082.4	-	16	2429	c.2295C>T	c.(2293-2295)ccC>ccT	p.P765P	MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000367030.3_Silent_p.P765P|LAMB3_ENST00000391911.1_Silent_p.P765P	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	765	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCACAAGCTTGGGGCTGCCGG	0.642																																																0													82	73	76					1																	209796913		2203	4300	6503	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2295C>T	1.37:g.209796913G>A			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	CCDS1487.1																																																																																				0.642	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		A	209796913	G	A	209796913	2	1	350	1	0	0	0	0	0	0	0	1	8614	1335	47	2		2	LAMB3	1	209796913	Silent	SNP	G	TCGA-BP-4761-01A-01D-1366-10	33271083	209796913	39453708	16	19982											
HHAT	55733	hgsc.bcm.edu;ucsc.edu	37	1	210573841	210573841	+	Silent	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:210573841G>T	ENST00000367010.1	+	5	530	c.303G>T	c.(301-303)ggG>ggT	p.G101G	HHAT_ENST00000545154.1_Silent_p.G102G|HHAT_ENST00000391905.3_Silent_p.G101G|HHAT_ENST00000545781.1_Silent_p.G38G|HHAT_ENST00000308852.6_Silent_p.G56G|HHAT_ENST00000413764.2_Silent_p.G101G|HHAT_ENST00000537898.1_Intron|HHAT_ENST00000261458.3_Silent_p.G101G|HHAT_ENST00000541565.1_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	101					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGCTCTATGGGATGTGGGCCT	0.567											OREG0012978	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													121	109	113					1																	210573841		2203	4300	6503	SO:0001819	synonymous_variant	55733			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.303G>T	1.37:g.210573841G>T		2191	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	CCDS1495.1																																																																																				0.567	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		T	210573841	G	T	210573841	2	4	350	1	0	0	0	0	0	0	0	1	7091	1161	41	4		4	HHAT	1	210573841	Silent	SNP	G	TCGA-BP-4761-01A-01D-1366-10	776928	210573841	38676780	17	19983											
RYR2	6262	hgsc.bcm.edu;ucsc.edu	37	1	237778053	237778053	+	Silent	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:237778053G>A	ENST00000366574.2	+	37	5942	c.5625G>A	c.(5623-5625)ctG>ctA	p.L1875L	RYR2_ENST00000542537.1_Silent_p.L1859L|RYR2_ENST00000360064.6_Silent_p.L1873L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1875	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAAAGCTGCAAGGAGCTG	0.532																																																0													48	51	50					1																	237778053		2048	4184	6232	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5625G>A	1.37:g.237778053G>A			Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237778053	G	A	237778053	2	1	350	1	0	0	0	0	0	0	0	1	13775	1306	46	2		2	RYR2	1	237778053	Silent	SNP	G	TCGA-BP-4761-01A-01D-1366-10	27204212	237778053	11472568	18	19984											
HNRNPU	3192	hgsc.bcm.edu;ucsc.edu	37	1	245022575	245022575	+	Splice_Site	SNP	A	A	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr1:245022575A>G	ENST00000283179.9	-	5	1281		c.e5+1		HNRNPU_ENST00000444376.2_Splice_Site			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)						CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			AAGAAGCTTTACCAAGTAACA	0.368																																					NSCLC(33;911 1010 3329 23631 49995)											0													112	112	112					1																	245022575		2202	4300	6502	SO:0001630	splice_region_variant	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1117+1T>C	1.37:g.245022575A>G			O75507|Q8N174|Q96HY9|Q9BQ09	Splice_Site	SNP	ENST00000283179.9	37	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.015052	0.75161	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9552	0.79884	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HNRNPU	243089198	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.287000	0.95975	2.219000	0.72066	0.482000	0.46254	.		0.368	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844	Intron	G	245022575	A	G	245022575	5	3	350	1	0	0	0	0	0	0	1	0	7275	405	14	3	1398	3	HNRNPU	1	245022575	Splice_Site	SNP	A	TCGA-BP-4761-01A-01D-1366-10	7244522	245022575	4228046	19	19985											
ITSN2	50618	hgsc.bcm.edu;ucsc.edu	37	2	24493591	24493591	+	Silent	SNP	A	A	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr2:24493591A>G	ENST00000355123.4	-	20	2747	c.2304T>C	c.(2302-2304)ttT>ttC	p.F768F	SCARNA21_ENST00000515996.1_RNA|ITSN2_ENST00000361999.3_Silent_p.F741F|ITSN2_ENST00000406921.3_Silent_p.F768F	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	768	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTGCTTCAAAGGGGTATA	0.308																																																0													130	123	125					2																	24493591		2203	4299	6502	SO:0001819	synonymous_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2304T>C	2.37:g.24493591A>G			O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	CCDS1710.2																																																																																				0.308	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		G	24493591	A	G	24493591	2	3	350	1	0	0	0	0	0	0	0	1	7929	127	5	3		3	ITSN2	2	24493591	Silent	SNP	A	TCGA-BP-4761-01A-01D-1366-10		24493591	218705782	20	19986											
C2orf53	339779	hgsc.bcm.edu;ucsc.edu	37	2	27360063	27360063	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr2:27360063G>T	ENST00000335524.3	-	3	1660	c.1135C>A	c.(1135-1137)Cct>Act	p.P379T	PREB_ENST00000406567.3_5'Flank|PREB_ENST00000416802.1_5'Flank|PREB_ENST00000260643.2_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		379										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCCCGAGGTGGAGGCCCG	0.602																																																0													106	111	109					2																	27360063		2203	4300	6503	SO:0001583	missense	339779																														ENST00000335524.3:c.1135C>A	2.37:g.27360063G>T	ENSP00000335017:p.Pro379Thr		Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.159510	0.00321	.	.	ENSG00000186143	ENST00000335524	T	0.28255	1.62	4.55	2.71	0.32032	.	0.687345	0.12035	N	0.505581	T	0.14098	0.0341	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.35076	-0.9803	10	0.07325	T	0.83	0.0013	5.4413	0.16511	0.1048:0.0:0.6815:0.2137	.	379	Q53SZ7	CB053_HUMAN	T	379	ENSP00000335017:P379T	ENSP00000335017:P379T	P	-	1	0	C2orf53	27213567	0.008000	0.16893	0.000000	0.03702	0.046000	0.14306	1.137000	0.31479	0.617000	0.30160	0.561000	0.74099	CCT		0.602	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			T	27360063	G	T	27360063	3	4	350	1	0	0	0	0	1	0	0	0	2176	1261	44	4	107	4	C2orf53	2	27360063	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	2866472	27360063	215839310	21	19987											
EIF2AK2	5610	hgsc.bcm.edu	37	2	37374007	37374007	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr2:37374007T>A	ENST00000233057.4	-	4	551	c.229A>T	c.(229-231)Aag>Tag	p.K77*	EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.K77*|EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.K77*	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	77	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTCTTTTCCTTATTAAGTATC	0.343																																																0													142	137	139					2																	37374007		2203	4299	6502	SO:0001587	stop_gained	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.229A>T	2.37:g.37374007T>A	ENSP00000233057:p.Lys77*		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Nonsense_Mutation	SNP	ENST00000233057.4	37	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.755453	0.89843	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156;ENST00000411537;ENST00000390013	.	.	.	4.68	0.733	0.18289	.	0.684628	0.13860	N	0.357705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8028	5.3359	0.15957	0.0:0.0949:0.3467:0.5584	.	.	.	.	X	77	.	ENSP00000233057:K77X	K	-	1	0	EIF2AK2	37227511	0.000000	0.05858	0.031000	0.17742	0.040000	0.13550	-0.533000	0.06157	0.020000	0.15106	0.528000	0.53228	AAG		0.343	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		A	37374007	T	A	37374007	4	1	350	1	0	0	0	0	0	1	0	0	4999	1763	61	5	1482	5	EIF2AK2	2	37374007	Nonsense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10	10013944	37374007	205825366	22	19988											
POLR1A	25885	hgsc.bcm.edu;ucsc.edu	37	2	86327173	86327173	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr2:86327173C>A	ENST00000263857.6	-	2	578	c.200G>T	c.(199-201)tGc>tTc	p.C67F	POLR1A_ENST00000409681.1_Missense_Mutation_p.C67F			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	67					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTCCTGCACGCAGGTGGAGCA	0.552																																																0													85	90	88					2																	86327173		2008	4181	6189	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.200G>T	2.37:g.86327173C>A	ENSP00000263857:p.Cys67Phe		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093027	0.76756	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.81078	-1.45;-1.45	5.78	5.78	0.91487	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.92883	0.7736	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93963	0.7242	10	0.87932	D	0	-18.2928	19.9976	0.97389	0.0:1.0:0.0:0.0	.	67;67	B9ZVN9;O95602	.;RPA1_HUMAN	F	67	ENSP00000263857:C67F;ENSP00000386300:C67F	ENSP00000263857:C67F	C	-	2	0	POLR1A	86180684	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.251000	0.78297	2.737000	0.93849	0.563000	0.77884	TGC		0.552	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		A	86327173	C	A	86327173	3	1	350	1	0	0	0	0	1	0	0	0	12211	710	25	4	5094	4	POLR1A	2	86327173	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	48953166	86327173	156872200	23	19989											
EPC2	26122	hgsc.bcm.edu	37	2	149447846	149447846	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr2:149447846G>A	ENST00000258484.6	+	2	251	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	EPC2_ENST00000409654.1_Missense_Mutation_p.V73I	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	73					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGAGAGTATGGTCATTCCTGT	0.378																																																0													166	155	159					2																	149447846		1888	4117	6005	SO:0001583	missense	26122			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.217G>A	2.37:g.149447846G>A	ENSP00000258484:p.Val73Ile		B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315543	0.81469	.	.	ENSG00000135999	ENST00000457184;ENST00000258484;ENST00000409654;ENST00000397424;ENST00000449013	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.67	5.67	0.87782	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.42017	0.1184	N	0.02985	-0.445	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.53301	-0.8458	10	0.23891	T	0.37	-2.7129	19.7784	0.96405	0.0:0.0:1.0:0.0	.	73	Q52LR7	EPC2_HUMAN	I	49;73;73;2;22	ENSP00000415543:V49I;ENSP00000258484:V73I;ENSP00000387097:V73I;ENSP00000380569:V2I;ENSP00000395431:V22I	ENSP00000258484:V73I	V	+	1	0	EPC2	149164316	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.658000	0.90341	0.591000	0.81541	GTC		0.378	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		A	149447846	G	A	149447846	3	1	350	1	0	0	0	0	1	0	0	0	5163	1261	44	2	223	2	EPC2	2	149447846	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	63120673	149447846	93751527	24	19990											
NEB	4703	hgsc.bcm.edu	37	2	152467134	152467134	+	Missense_Mutation	SNP	G	G	T	rs200591649		TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr2:152467134G>T	ENST00000172853.10	-	76	11332	c.11185C>A	c.(11185-11187)Ctt>Att	p.L3729I	NEB_ENST00000603639.1_Missense_Mutation_p.L3972I|NEB_ENST00000409198.1_Missense_Mutation_p.L3729I|NEB_ENST00000604864.1_Missense_Mutation_p.L3972I|NEB_ENST00000427231.2_Missense_Mutation_p.L3972I|NEB_ENST00000397345.3_Missense_Mutation_p.L3972I			P20929	NEBU_HUMAN	nebulin	3729					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGTGTAAAGTTTCTAGGGA	0.423																																																0													129	124	126					2																	152467134		1897	4115	6012	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11185C>A	2.37:g.152467134G>T	ENSP00000172853:p.Leu3729Ile		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	17.08	3.298430	0.60195	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.87	5.0	0.66597	.	0.277370	0.35207	N	0.003369	T	0.51193	0.1660	M	0.65320	2	0.80722	D	1	P	0.41102	0.738	P	0.44921	0.464	T	0.47302	-0.9128	10	0.22706	T	0.39	.	15.443	0.75204	0.0666:0.0:0.9334:0.0	.	3729	P20929	NEBU_HUMAN	I	3729;3972;3972;3729	ENSP00000386259:L3729I;ENSP00000380505:L3972I;ENSP00000416578:L3972I;ENSP00000172853:L3729I	ENSP00000172853:L3729I	L	-	1	0	NEB	152175380	0.970000	0.33590	1.000000	0.80357	0.954000	0.61252	1.449000	0.35123	1.625000	0.50366	0.655000	0.94253	CTT		0.423	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152467134	G	T	152467134	3	4	350	1	0	0	0	0	1	0	0	0	10304	1029	36	4	14184	4	NEB	2	152467134	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	3019288	152467134	90732239	25	19991											
AGFG1	3267	hgsc.bcm.edu;ucsc.edu	37	2	228398343	228398343	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr2:228398343C>A	ENST00000310078.8	+	7	1153	c.893C>A	c.(892-894)aCc>aAc	p.T298N	AGFG1_ENST00000409315.1_Missense_Mutation_p.T298N|AGFG1_ENST00000409979.2_Missense_Mutation_p.T322N|AGFG1_ENST00000373671.3_Missense_Mutation_p.T258N|AGFG1_ENST00000409171.1_Missense_Mutation_p.T298N	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	298					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GATTTTGGAACCTTCAATACT	0.403																																																0													102	98	99					2																	228398343		2203	4300	6503	SO:0001583	missense	3267				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.893C>A	2.37:g.228398343C>A	ENSP00000312059:p.Thr298Asn		B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583009	0.46006	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.25414	1.8;1.99;1.91;1.94;1.99	5.14	3.3	0.37823	.	0.367377	0.30704	N	0.009060	T	0.12178	0.0296	N	0.08118	0	0.32209	N	0.576827	B;B;B;B	0.18741	0.012;0.004;0.03;0.002	B;B;B;B	0.18561	0.01;0.009;0.022;0.007	T	0.19257	-1.0311	10	0.13853	T	0.58	.	11.6487	0.51275	0.1353:0.7219:0.1428:0.0	.	258;298;322;298	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	N	322;307;298;298;258;298;220	ENSP00000387282:T322N;ENSP00000312059:T298N;ENSP00000387154:T298N;ENSP00000362775:T258N;ENSP00000387218:T298N	ENSP00000312059:T298N	T	+	2	0	AGFG1	228106587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.284000	0.65627	0.533000	0.28675	0.655000	0.94253	ACC		0.403	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		A	228398343	C	A	228398343	3	1	350	1	0	0	0	0	1	0	0	0	380	507	18	4	995	4	AGFG1	2	228398343	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	75931209	228398343	14801030	26	19992											
ATXN7	6314	hgsc.bcm.edu;ucsc.edu	37	3	63938069	63938069	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr3:63938069G>C	ENST00000295900.6	+	5	959	c.409G>C	c.(409-411)Ggt>Cgt	p.G137R	ATXN7_ENST00000398590.3_Missense_Mutation_p.G137R|ATXN7_ENST00000538065.1_Missense_Mutation_p.G137R|ATXN7_ENST00000487717.1_Missense_Mutation_p.G137R	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	137					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCCAATATTTGGTTTCTGTCC	0.408																																																0													213	199	203					3																	63938069		1937	4151	6088	SO:0001583	missense	6314			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.409G>C	3.37:g.63938069G>C	ENSP00000295900:p.Gly137Arg		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995500	0.93167	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.60378	-0.7275	10	0.87932	D	0	-7.8962	19.4212	0.94721	0.0:0.0:1.0:0.0	.	137;137	O15265-2;O15265	.;ATX7_HUMAN	R	137	ENSP00000381590:G137R;ENSP00000295900:G137R;ENSP00000420234:G137R;ENSP00000439585:G137R	ENSP00000295900:G137R	G	+	1	0	ATXN7	63913109	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.734000	0.98822	2.674000	0.91012	0.467000	0.42956	GGT		0.408	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		C	63938069	G	C	63938069	3	2	350	1	0	0	0	0	1	0	0	0	1215	1348	47	4	419	4	ATXN7	3	63938069	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10		63938069	134084361	27	19993											
CADM2	253559	hgsc.bcm.edu;ucsc.edu	37	3	85961677	85961677	+	Silent	SNP	G	G	A	rs375253682		TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr3:85961677G>A	ENST00000407528.2	+	5	719	c.657G>A	c.(655-657)caG>caA	p.Q219Q	CADM2_ENST00000405615.2_Silent_p.Q221Q|CADM2_ENST00000383699.3_Silent_p.Q228Q	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	219	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TAGCCATGCAGGTGCTAGAAA	0.478																																																0													108	94	98					3																	85961677		2203	4300	6503	SO:0001819	synonymous_variant	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.657G>A	3.37:g.85961677G>A			G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	ENST00000407528.2	37	CCDS54614.1																																																																																				0.478	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		A	85961677	G	A	85961677	2	1	350	1	0	0	0	0	0	0	0	1	2569	991	35	2		2	CADM2	3	85961677	Silent	SNP	G	TCGA-BP-4761-01A-01D-1366-10	22023608	85961677	112060753	28	19994											
CLDND1	56650	hgsc.bcm.edu;ucsc.edu	37	3	98240229	98240229	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr3:98240229C>A	ENST00000503004.1	-	2	919	c.40G>T	c.(40-42)Gtg>Ttg	p.V14L	CLDND1_ENST00000341181.6_Missense_Mutation_p.V14L|CLDND1_ENST00000513287.1_Missense_Mutation_p.V14L|CLDND1_ENST00000437922.1_Missense_Mutation_p.V37L|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000394181.2_Missense_Mutation_p.V14L|CLDND1_ENST00000510545.1_Missense_Mutation_p.V14L|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000394185.2_Missense_Mutation_p.V14L|RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000394180.2_Missense_Mutation_p.V14L|CLDND1_ENST00000507874.1_Missense_Mutation_p.V14L			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	14						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						AGGCTAAGCACACAAGCAATT	0.403																																																0													105	100	102					3																	98240229		2203	4300	6503	SO:0001583	missense	56650			AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 4"	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.40G>T	3.37:g.98240229C>A	ENSP00000421226:p.Val14Leu		B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789780	0.31685	.	.	ENSG00000080822	ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000513287;ENST00000513452;ENST00000502299;ENST00000508902;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659;ENST00000508071;ENST00000513130;ENST00000506575	T;T;T;T;T;T;T;T;T;T;T;T	0.38560	1.55;1.49;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.58;1.57;1.13	5.14	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	L	0.32530	0.975	0.80722	D	1	P;P;B	0.38148	0.62;0.62;0.005	B;B;B	0.32211	0.142;0.087;0.018	T	0.08659	-1.0711	10	0.46703	T	0.11	-13.49	13.3827	0.60778	0.0:0.8406:0.1594:0.0	.	14;14;14	D6RCR8;Q9NY35;Q9NY35-2	.;CLDN1_HUMAN;.	L	14;14;37;14;14;14;14;14;14;14;14;14;14;14;14;14;14;14;14	ENSP00000340247:V14L;ENSP00000388457:V37L;ENSP00000377734:V14L;ENSP00000421226:V14L;ENSP00000377739:V14L;ENSP00000377735:V14L;ENSP00000423590:V14L;ENSP00000426869:V14L;ENSP00000425539:V14L;ENSP00000420913:V14L;ENSP00000421413:V14L;ENSP00000423151:V14L	ENSP00000340247:V14L	V	-	1	0	CLDND1	99722919	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	4.180000	0.58296	1.128000	0.42052	-0.175000	0.13238	GTG		0.403	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		A	98240229	C	A	98240229	3	1	350	1	0	0	0	0	1	0	0	0	3495	478	17	4	737	4	CLDND1	3	98240229	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	12278552	98240229	99782201	29	19995											
ZBTB38	253461	hgsc.bcm.edu;ucsc.edu	37	3	141161504	141161504	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr3:141161504T>G	ENST00000514251.1	+	4	553	c.274T>G	c.(274-276)Tac>Gac	p.Y92D	ZBTB38_ENST00000441582.2_Missense_Mutation_p.Y92D|ZBTB38_ENST00000321464.5_Missense_Mutation_p.Y93D					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TAATTATATCTACAGTTCCAC	0.418																																																0													60	56	57					3																	141161504		1876	4106	5982	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.274T>G	3.37:g.141161504T>G	ENSP00000426387:p.Tyr92Asp			Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974403	0.74246	.	.	ENSG00000177311	ENST00000509842;ENST00000507722;ENST00000513258;ENST00000509883;ENST00000514251;ENST00000510338;ENST00000504673;ENST00000441582;ENST00000321464;ENST00000510726;ENST00000509813	D;D;D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.07	5.07	0.68467	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.95674	0.8593	H	0.97214	3.96	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96366	0.9270	10	0.05620	T	0.96	-32.8665	15.1317	0.72530	0.0:0.0:0.0:1.0	.	93;92	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	D	92;92;92;92;92;92;92;92;93;92;92	ENSP00000426931:Y92D;ENSP00000421037:Y92D;ENSP00000426288:Y92D;ENSP00000424254:Y92D;ENSP00000426387:Y92D;ENSP00000425705:Y92D;ENSP00000422347:Y92D;ENSP00000406955:Y92D;ENSP00000372635:Y93D;ENSP00000422081:Y92D;ENSP00000422894:Y92D	ENSP00000372635:Y93D	Y	+	1	0	ZBTB38	142644194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.043000	0.60533	0.482000	0.46254	TAC		0.418	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			G	141161504	T	G	141161504	3	3	350	1	0	0	0	0	1	0	0	0	17544	1522	53	5	276	5	ZBTB38	3	141161504	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10	42921275	141161504	56860926	30	19996											
TFDP2	7029	hgsc.bcm.edu;ucsc.edu	37	3	141693004	141693004	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr3:141693004T>G	ENST00000489671.1	-	8	979	c.549A>C	c.(547-549)agA>agC	p.R183S	TFDP2_ENST00000397991.4_Missense_Mutation_p.R155S|TFDP2_ENST00000317104.7_Missense_Mutation_p.R107S|TFDP2_ENST00000477292.1_Missense_Mutation_p.R47S|TFDP2_ENST00000467072.1_Missense_Mutation_p.R123S|TFDP2_ENST00000310282.6_Missense_Mutation_p.R123S|TFDP2_ENST00000479040.1_Missense_Mutation_p.R122S|TFDP2_ENST00000495310.1_Missense_Mutation_p.R86S|TFDP2_ENST00000499676.2_Missense_Mutation_p.R123S|TFDP2_ENST00000486111.1_Missense_Mutation_p.R123S			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	183					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						CATCATAAACTCTTCGCCTAA	0.333																																																0													94	88	90					3																	141693004		1832	4094	5926	SO:0001583	missense	7029			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.549A>C	3.37:g.141693004T>G	ENSP00000420616:p.Arg183Ser		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023028	0.75275	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000478006;ENST00000497579	D;D;D;D;D;D;D;D;D;D;T;T	0.89810	-1.62;-1.76;-1.62;-2.38;-2.57;-1.62;-1.51;-1.62;-1.61;-1.77;-1.2;-1.11	5.77	3.43	0.39272	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95417	0.8512	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.97110	1.0;0.998;0.99	D	0.94574	0.7773	10	0.87932	D	0	-9.0448	7.9857	0.30210	0.0:0.2173:0.0:0.7827	.	86;183;123	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	S	123;183;123;47;86;123;107;123;122;155;123;97;122	ENSP00000439782:R123S;ENSP00000420616:R183S;ENSP00000420599:R123S;ENSP00000418971:R47S;ENSP00000419036:R86S;ENSP00000418590:R123S;ENSP00000315668:R107S;ENSP00000309622:R123S;ENSP00000417585:R122S;ENSP00000381078:R155S;ENSP00000417726:R123S;ENSP00000417220:R122S	ENSP00000309622:R123S	R	-	3	2	TFDP2	143175694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.818000	0.27295	1.017000	0.39495	0.455000	0.32223	AGA		0.333	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		G	141693004	T	G	141693004	3	3	350	1	0	0	0	0	1	0	0	0	15803	1548	54	5	815	5	TFDP2	3	141693004	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10	531500	141693004	56329426	31	19997											
RAP2B	5912	hgsc.bcm.edu;ucsc.edu	37	3	152880655	152880664	+	Frame_Shift_Del	DEL	CGGCGGGCAC	CGGCGGGCAC	-			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	CGGCGGGCAC	CGGCGGGCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr3:152880655_152880664delCGGCGGGCAC	ENST00000323534.2	+	1	627_636	c.173_182delCGGCGGGCAC	c.(172-183)acggcgggcaccfs	p.TAGT58fs	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	58					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ATCCTGGATACGGCGGGCACCGAGCAGTTC	0.586																																																0																																										SO:0001589	frameshift_variant	5912				CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"Ras-related protein RAP-2B", "small GTP binding protein", "Ras family small GTP binding protein RAP2B"	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.173_182delCGGCGGGCAC	3.37:g.152880655_152880664delCGGCGGGCAC	ENSP00000319096:p.Thr58fs		P17964|Q96EG5|Q9CXG0	Frame_Shift_Del	DEL	ENST00000323534.2	37	CCDS3170.1																																																																																				0.586	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		-	152880664	CGGCGGGCAC	-	152880655	7	5	350	1	0	1	0	1	0	0	0	0	13047	536	19	0	175	0	RAP2B	3	152880655	Frame_Shift_Del	DEL	CGGCGGGCAC	TCGA-BP-4761-01A-01D-1366-10	11187651	152880655	45141775	32	19998											
SLC33A1	9197	hgsc.bcm.edu;ucsc.edu	37	3	155547594	155547594	+	Silent	SNP	C	C	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr3:155547594C>T	ENST00000392845.3	-	5	1745	c.1365G>A	c.(1363-1365)gtG>gtA	p.V455V	SLC33A1_ENST00000359479.3_Silent_p.V455V			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	455					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCAGATTGGACACGGTATTTA	0.418																																																0													124	106	112					3																	155547594		2203	4300	6503	SO:0001819	synonymous_variant	9197			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1365G>A	3.37:g.155547594C>T			B2R5Q2|D3DNK4	Silent	SNP	ENST00000392845.3	37	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270631	0.23221	.	.	ENSG00000169359	ENST00000475842	T	0.25579	1.79	5.76	0.489	0.16854	.	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08680	-1.0710	7	0.15952	T	0.53	-16.3601	5.5523	0.17097	0.2402:0.5628:0.0:0.197	.	.	.	.	I	175	ENSP00000419066:V175I	ENSP00000419066:V175I	V	-	1	0	SLC33A1	157030288	0.281000	0.24258	0.988000	0.46212	0.992000	0.81027	-0.384000	0.07389	0.070000	0.16634	0.585000	0.79938	GTC		0.418	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		T	155547594	C	T	155547594	2	4	350	1	0	0	0	0	0	0	0	1	14572	465	17	2		2	SLC33A1	3	155547594	Silent	SNP	C	TCGA-BP-4761-01A-01D-1366-10	2666939	155547594	42474836	33	19999											
ACAP2	23527	hgsc.bcm.edu	37	3	195022890	195022890	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr3:195022890T>A	ENST00000326793.6	-	14	1360	c.1130A>T	c.(1129-1131)aAa>aTa	p.K377I		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	377					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TGGAGATGATTTCTTATCCAG	0.373																																																0													99	113	108					3																	195022890		2203	4300	6503	SO:0001583	missense	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1130A>T	3.37:g.195022890T>A	ENSP00000324287:p.Lys377Ile		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.66|17.66	3.444794|3.444794	0.63178|0.63178	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000439758|ENST00000326793	.|T	.|0.50813	.|0.73	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.126440	.|0.64402	.|D	.|0.000001	T|T	0.36276|0.36276	0.0961|0.0961	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|P	.|0.43973	.|0.823	.|B	.|0.41510	.|0.359	T|T	0.16600|0.16600	-1.0397|-1.0397	5|10	.|0.34782	.|T	.|0.22	.|.	15.06|15.06	0.71944|0.71944	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|377	.|Q15057	.|ACAP2_HUMAN	D|I	251|377	.|ENSP00000324287:K377I	.|ENSP00000324287:K377I	E|K	-|-	3|2	2|0	ACAP2|ACAP2	196504179|196504179	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.070000|4.070000	0.57548|0.57548	2.155000|2.155000	0.67459|0.67459	0.482000|0.482000	0.46254|0.46254	GAA|AAA		0.373	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		A	195022890	T	A	195022890	3	1	350	1	0	0	0	0	1	0	0	0	119	1841	64	5	1246	5	ACAP2	3	195022890	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10	39475296	195022890	2999540	34	20000											
KDR	3791	hgsc.bcm.edu;ucsc.edu	37	4	55968633	55968633	+	Missense_Mutation	SNP	G	G	A	rs200338299		TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr4:55968633G>A	ENST00000263923.4	-	14	2325	c.2030C>T	c.(2029-2031)aCg>aTg	p.T677M		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	677	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.T677M(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATACTTGTCGTCTGATTCTC	0.443			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18066	0.0		0.001	False		,,,				2504	0.0						Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - Missense(1)	large_intestine(1)											183	152	162					4																	55968633		2203	4300	6503	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2030C>T	4.37:g.55968633G>A	ENSP00000263923:p.Thr677Met		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.06	2.124355	0.37533	.	.	ENSG00000128052	ENST00000263923	T	0.68624	-0.34	6.02	6.02	0.97574	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.105383	0.64402	D	0.000003	D	0.83326	0.5230	M	0.81802	2.56	0.46044	D	0.998835	D	0.89917	1.0	D	0.78314	0.991	T	0.81230	-0.1027	10	0.39692	T	0.17	.	20.1146	0.97924	0.0:0.0:1.0:0.0	.	677	P35968	VGFR2_HUMAN	M	677	ENSP00000263923:T677M	ENSP00000263923:T677M	T	-	2	0	KDR	55663390	1.000000	0.71417	0.971000	0.41717	0.177000	0.22998	4.984000	0.63838	2.855000	0.98099	0.655000	0.94253	ACG		0.443	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			A	55968633	G	A	55968633	3	1	350	1	0	0	0	0	1	0	0	0	8141	1145	40	1	2108	1	KDR	4	55968633	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10		55968633	135185643	35	20001											
PPEF2	5470	hgsc.bcm.edu	37	4	76787408	76787408	+	Silent	SNP	T	T	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr4:76787408T>C	ENST00000286719.7	-	15	2210	c.1854A>G	c.(1852-1854)tcA>tcG	p.S618S		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	618					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTTGTCTGCTGAGCTGTTCA	0.537																																					NSCLC(105;1359 1603 15961 44567 47947)											0													196	159	172					4																	76787408		2203	4300	6503	SO:0001819	synonymous_variant	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1854A>G	4.37:g.76787408T>C			O14831	Silent	SNP	ENST00000286719.7	37	CCDS34013.1																																																																																				0.537	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		C	76787408	T	C	76787408	2	2	350	1	0	0	0	0	0	0	0	1	12310	1567	55	3		3	PPEF2	4	76787408	Silent	SNP	T	TCGA-BP-4761-01A-01D-1366-10	20818775	76787408	114366868	36	20002											
SNX18	112574	hgsc.bcm.edu;ucsc.edu	37	5	53839014	53839014	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr5:53839014C>G	ENST00000381410.4	+	2	1817	c.1627C>G	c.(1627-1629)Ctt>Gtt	p.L543V	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	0	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TACAGGAGCTCTTACCAAAGT	0.383																																																0													70	68	68					5																	53839014		1862	4090	5952	SO:0001583	missense	112574			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000381410.4:c.1627C>G	5.37:g.53839014C>G	ENSP00000370817:p.Leu543Val		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000381410.4	37	CCDS43317.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005749	0.74932	.	.	ENSG00000178996	ENST00000381410	T	0.14640	2.49	5.72	5.72	0.89469	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.80722	D	1	P	0.41978	0.767	P	0.45712	0.491	T	0.00525	-1.1689	8	0.27785	T	0.31	.	19.8891	0.96923	0.0:1.0:0.0:0.0	.	543	Q96RF0-2	.	V	543	ENSP00000370817:L543V	ENSP00000370817:L543V	L	+	1	0	SNX18	53874771	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.596000	0.61055	2.689000	0.91719	0.655000	0.94253	CTT		0.383	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214073.2			G	53839014	C	G	53839014	3	3	350	1	0	0	0	0	1	0	0	0	14895	913	32	4	1899	4	SNX18	5	53839014	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10		53839014	127076246	37	20003											
VCAN	1462	hgsc.bcm.edu;ucsc.edu	37	5	82837110	82837110	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr5:82837110C>T	ENST00000265077.3	+	8	8853	c.8288C>T	c.(8287-8289)cCa>cTa	p.P2763L	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.P1776L|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2763	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCTTTTCAGCCAGAATTCTCT	0.433																																																0													57	53	54					5																	82837110		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8288C>T	5.37:g.82837110C>T	ENSP00000265077:p.Pro2763Leu		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568728	0.45798	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.66638	-0.22;-0.22	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000005	T	0.75932	0.3917	M	0.71581	2.175	0.80722	D	1	D;D	0.67145	0.986;0.996	P;P	0.56474	0.799;0.72	T	0.76291	-0.3013	10	0.51188	T	0.08	.	12.9124	0.58187	0.0:0.9254:0.0:0.0746	.	1776;2763	P13611-2;P13611	.;CSPG2_HUMAN	L	2763;1776	ENSP00000265077:P2763L;ENSP00000340062:P1776L	ENSP00000265077:P2763L	P	+	2	0	VCAN	82872866	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	3.256000	0.51492	2.941000	0.99782	0.655000	0.94253	CCA		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82837110	C	T	82837110	3	4	350	1	0	0	0	0	1	0	0	0	17143	594	21	2	8314	2	VCAN	5	82837110	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	28998096	82837110	98078150	38	20004											
ADAMTS19	171019	hgsc.bcm.edu	37	5	128984499	128984499	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr5:128984499C>T	ENST00000274487.4	+	13	2139	c.1994C>T	c.(1993-1995)tCt>tTt	p.S665F	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	665	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGGCTAGATTCTGAAGCAAGG	0.328																																																0													78	81	80					5																	128984499		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1994C>T	5.37:g.128984499C>T	ENSP00000274487:p.Ser665Phe			Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	4.956	0.177522	0.09443	.	.	ENSG00000145808	ENST00000274487	T	0.53206	0.63	4.2	4.2	0.49525	.	0.562990	0.16809	N	0.198624	T	0.21103	0.0508	N	0.02775	-0.495	0.39040	D	0.960104	P	0.38195	0.622	B	0.39738	0.308	T	0.04509	-1.0946	9	.	.	.	.	4.8767	0.13660	0.2156:0.6755:0.0:0.1089	.	665	Q8TE59	ATS19_HUMAN	F	665	ENSP00000274487:S665F	.	S	+	2	0	ADAMTS19	129012398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.386000	0.44380	2.624000	0.88883	0.655000	0.94253	TCT		0.328	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		T	128984499	C	T	128984499	3	4	350	1	0	0	0	0	1	0	0	0	264	913	32	2	2044	2	ADAMTS19	5	128984499	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	46147389	128984499	51930761	39	20005											
PLAC8L1	153770	hgsc.bcm.edu;ucsc.edu	37	5	145483813	145483813	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr5:145483813T>A	ENST00000311450.4	-	1	119	c.62A>T	c.(61-63)tAc>tTc	p.Y21F	RP11-118M9.3_ENST00000514002.1_RNA	NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	21										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAGGTGAGTATATGTTGAG	0.393																																																0													117	109	111					5																	145483813		2203	4300	6503	SO:0001583	missense	153770				CCDS34264.1	5q32	2008-02-05			ENSG00000173261	ENSG00000173261			31746	protein-coding gene	gene with protein product							Standard	XM_005268381		Approved		uc003lnv.3	A1L4L8	OTTHUMG00000163418	ENST00000311450.4:c.62A>T	5.37:g.145483813T>A	ENSP00000309087:p.Tyr21Phe			Missense_Mutation	SNP	ENST00000311450.4	37	CCDS34264.1	.	.	.	.	.	.	.	.	.	.	T	7.945	0.743676	0.15642	.	.	ENSG00000173261	ENST00000311450	T	0.43294	0.95	4.66	4.66	0.58398	.	0.739814	0.12576	N	0.456846	T	0.22044	0.0531	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.12863	-1.0531	10	0.11182	T	0.66	-0.1473	10.6563	0.45678	0.0:0.0:0.0:1.0	.	21	A1L4L8	PL8L1_HUMAN	F	21	ENSP00000309087:Y21F	ENSP00000309087:Y21F	Y	-	2	0	PLAC8L1	145464006	0.000000	0.05858	0.256000	0.24389	0.029000	0.11900	0.309000	0.19332	2.084000	0.62774	0.460000	0.39030	TAC		0.393	PLAC8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373290.1	XM_087761		A	145483813	T	A	145483813	3	1	350	1	0	0	0	0	1	0	0	0	12018	1638	57	5	487	5	PLAC8L1	5	145483813	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10	16499314	145483813	35431447	40	20006											
RREB1	6239	hgsc.bcm.edu	37	6	7231121	7231121	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr6:7231121G>A	ENST00000349384.6	+	10	3103	c.2789G>A	c.(2788-2790)tGc>tAc	p.C930Y	RREB1_ENST00000334984.6_Missense_Mutation_p.C930Y|RREB1_ENST00000379938.2_Missense_Mutation_p.C930Y|RREB1_ENST00000379933.3_Missense_Mutation_p.C930Y	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	930					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCTATGACTGCTCCATGGAG	0.577																																																0													54	54	54					6																	7231121		2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2789G>A	6.37:g.7231121G>A	ENSP00000305560:p.Cys930Tyr		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490116	0.44249	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.12361	2.82;2.77;2.82;2.69	5.05	4.18	0.49190	.	0.280853	0.31177	N	0.008116	T	0.08846	0.0219	L	0.27053	0.805	0.40914	D	0.984254	D;D;B	0.57899	0.964;0.981;0.007	P;P;B	0.53593	0.73;0.541;0.01	T	0.06303	-1.0834	10	0.66056	D	0.02	-15.4336	9.943	0.41591	0.1538:0.0:0.8462:0.0	.	930;930;930	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	Y	930	ENSP00000369265:C930Y;ENSP00000369270:C930Y;ENSP00000305560:C930Y;ENSP00000335574:C930Y	ENSP00000335574:C930Y	C	+	2	0	RREB1	7176120	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.462000	0.66707	1.343000	0.45638	0.655000	0.94253	TGC		0.577	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			A	7231121	G	A	7231121	3	1	350	1	0	0	0	0	1	0	0	0	13685	1319	46	2	2815	2	RREB1	6	7231121	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10		7231121	163883946	41	20007											
BTBD9	114781	hgsc.bcm.edu;ucsc.edu	37	6	38224273	38224273	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr6:38224273C>A	ENST00000481247.1	-	9	1625	c.1474G>T	c.(1474-1476)Gat>Tat	p.D492Y	BTBD9_ENST00000419706.2_Missense_Mutation_p.D462Y|BTBD9_ENST00000314100.6_Missense_Mutation_p.D424Y|BTBD9_ENST00000403056.1_Missense_Mutation_p.D492Y|BTBD9_ENST00000408958.1_Missense_Mutation_p.D424Y	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	492					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CTTCGATCATCACAATCCCAA	0.423																																																0													94	88	90					6																	38224273		1869	4105	5974	SO:0001583	missense	114781				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1474G>T	6.37:g.38224273C>A	ENSP00000418751:p.Asp492Tyr		Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898615	0.72639	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	4.97	4.97	0.65823	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	D	0.89836	0.6830	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.993	D	0.91934	0.5557	10	0.87932	D	0	.	17.2001	0.86903	0.0:1.0:0.0:0.0	.	462;492	Q494V9;Q96Q07	.;BTBD9_HUMAN	Y	424;492;462;492;424	ENSP00000323408:D424Y;ENSP00000418751:D492Y;ENSP00000415365:D462Y;ENSP00000386121:D492Y;ENSP00000386211:D424Y	ENSP00000323408:D424Y	D	-	1	0	BTBD9	38332251	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.641000	0.74324	2.584000	0.87258	0.563000	0.77884	GAT		0.423	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		A	38224273	C	A	38224273	3	1	350	1	0	0	0	0	1	0	0	0	1550	826	29	4	376	4	BTBD9	6	38224273	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	30993152	38224273	132890794	42	20008											
CUL9	23113	hgsc.bcm.edu;ucsc.edu	37	6	43182827	43182827	+	Missense_Mutation	SNP	C	C	A	rs146106470		TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr6:43182827C>A	ENST00000252050.4	+	30	5783	c.5699C>A	c.(5698-5700)gCc>gAc	p.A1900D	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.A1790D|CUL9_ENST00000372647.2_Missense_Mutation_p.A1872D	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1900					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GTGCTGGAGGCCTGGCAGAAG	0.557																																																0													82	86	85					6																	43182827		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5699C>A	6.37:g.43182827C>A	ENSP00000252050:p.Ala1900Asp		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820539	0.90873	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.79141	-1.24;-1.24;-1.16	5.33	5.33	0.75918	Cullin protein, neddylation domain (1);	0.515153	0.22384	N	0.060773	D	0.85792	0.5779	M	0.66939	2.045	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.996;0.996	D	0.86984	0.2106	10	0.87932	D	0	-22.4243	19.0368	0.92982	0.0:1.0:0.0:0.0	.	1790;1872;1900	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	D	1900;1790;1872	ENSP00000252050:A1900D;ENSP00000346490:A1790D;ENSP00000361730:A1872D	ENSP00000252050:A1900D	A	+	2	0	CUL9	43290805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.013000	0.70776	2.492000	0.84095	0.655000	0.94253	GCC		0.557	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		A	43182827	C	A	43182827	3	1	350	1	0	0	0	0	1	0	0	0	4063	739	26	4	5813	4	CUL9	6	43182827	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	4958554	43182827	127932240	43	20009											
HMGCLL1	54511	hgsc.bcm.edu;ucsc.edu	37	6	55406919	55406919	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr6:55406919C>A	ENST00000398661.2	-	3	349	c.218G>T	c.(217-219)gGa>gTa	p.G73V	HMGCLL1_ENST00000428842.1_Missense_Mutation_p.G43V|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G43V|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.G43V|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G43V|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G43V	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	73					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCAGGGAGTCCAGATAACTG	0.338																																					Ovarian(35;840 893 7837 15538 42887)											0													79	72	74					6																	55406919		1815	4081	5896	SO:0001583	missense	54511			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.218G>T	6.37:g.55406919C>A	ENSP00000381654:p.Gly73Val		B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197633	0.22037	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161;ENST00000428842	D;D;D;D;D;D	0.98164	-4.64;-4.59;-4.51;-3.91;-4.76;-3.63	5.51	4.65	0.58169	.	0.286591	0.34067	N	0.004300	D	0.96836	0.8967	N	0.19112	0.55	0.80722	D	1	D;D;B;B;B;B	0.76494	0.999;0.999;0.037;0.171;0.081;0.086	D;D;B;B;B;B	0.68765	0.941;0.96;0.033;0.085;0.053;0.035	D	0.98057	1.0391	10	0.59425	D	0.04	-21.6048	14.0984	0.65039	0.0:0.9281:0.0:0.0719	.	43;43;43;43;43;73	B7Z4D4;B7Z212;F8W793;G5E9S9;Q8TB92-2;Q8TB92	.;.;.;.;.;HMGC2_HUMAN	V	43;73;43;43;43;43	ENSP00000274901:G43V;ENSP00000381654:G73V;ENSP00000359887:G43V;ENSP00000424309:G43V;ENSP00000309737:G43V;ENSP00000412924:G43V	ENSP00000274901:G43V	G	-	2	0	HMGCLL1	55514878	1.000000	0.71417	0.998000	0.56505	0.153000	0.21895	1.381000	0.34362	1.343000	0.45638	0.655000	0.94253	GGA		0.338	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		A	55406919	C	A	55406919	3	1	350	1	0	0	0	0	1	0	0	0	7232	855	30	4	926	4	HMGCLL1	6	55406919	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	12224092	55406919	115708148	44	20010											
NMBR	4829	hgsc.bcm.edu	37	6	142409628	142409628	+	Silent	SNP	C	C	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr6:142409628C>T	ENST00000258042.1	-	1	308	c.168G>A	c.(166-168)gtG>gtA	p.V56V	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	56					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCAGCAAGCCCACGGTGATGA	0.597																																																0													82	74	77					6																	142409628		2203	4300	6503	SO:0001819	synonymous_variant	4829				CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.168G>A	6.37:g.142409628C>T			E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	CCDS5196.1																																																																																				0.597	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			T	142409628	C	T	142409628	2	4	350	1	0	0	0	0	0	0	0	1	10489	581	21	2		2	NMBR	6	142409628	Silent	SNP	C	TCGA-BP-4761-01A-01D-1366-10	87002709	142409628	28705439	45	20011											
KIAA1549	57670	hgsc.bcm.edu	37	7	138546115	138546115	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr7:138546115A>G	ENST00000422774.1	-	16	5065	c.5017T>C	c.(5017-5019)Tac>Cac	p.Y1673H	KIAA1549_ENST00000242365.4_Missense_Mutation_p.Y1623H|KIAA1549_ENST00000440172.1_Missense_Mutation_p.Y1673H			Q9HCM3	K1549_HUMAN	KIAA1549	1673						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGTGGGATGTACTGGGAGGCC	0.642			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													33	40	37					7																	138546115		2063	4198	6261	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5017T>C	7.37:g.138546115A>G	ENSP00000416040:p.Tyr1673His		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055155	0.75960	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.29142	1.58;1.59;1.61	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	L	0.60455	1.87	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.998	T	0.53085	-0.8488	10	0.66056	D	0.02	.	13.418	0.60980	1.0:0.0:0.0:0.0	.	1673;457;1673;457	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	H	1673;1623;1673	ENSP00000406661:Y1673H;ENSP00000242365:Y1623H;ENSP00000416040:Y1673H	ENSP00000242365:Y1623H	Y	-	1	0	KIAA1549	138196655	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.681000	0.91228	2.010000	0.58986	0.460000	0.39030	TAC		0.642	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			G	138546115	A	G	138546115	3	3	350	1	0	0	0	0	1	0	0	0	8246	391	14	3	855	3	KIAA1549	7	138546115	Missense_Mutation	SNP	A	TCGA-BP-4761-01A-01D-1366-10		138546115	20592548	46	20012											
PPP2CB	5516	hgsc.bcm.edu	37	8	30643766	30643766	+	Silent	SNP	T	T	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr8:30643766T>G	ENST00000221138.4	-	7	1365	c.915A>C	c.(913-915)ccA>ccC	p.P305P	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	305					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GGAAGTAGTCTGGGGTGCGCC	0.408																																																0													37	37	37					8																	30643766		2201	4297	6498	SO:0001819	synonymous_variant	5516				CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9300	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, beta isoform"	176916	"protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.915A>C	8.37:g.30643766T>G			D3DSV4|P11082|Q6FHK5	Silent	SNP	ENST00000221138.4	37	CCDS6079.1																																																																																				0.408	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552		G	30643766	T	G	30643766	2	3	350	1	0	0	0	0	0	0	0	1	12386	1567	55	5		5	PPP2CB	8	30643766	Silent	SNP	T	TCGA-BP-4761-01A-01D-1366-10		30643766	115720256	47	20013											
CDH17	1015	hgsc.bcm.edu	37	8	95183103	95183103	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr8:95183103C>A	ENST00000027335.3	-	8	1018	c.894G>T	c.(892-894)ttG>ttT	p.L298F	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.L298F	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	298	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCTCGGTCCAAGGGCTGAG	0.428																																																0													156	155	156					8																	95183103		2203	4300	6503	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.894G>T	8.37:g.95183103C>A	ENSP00000027335:p.Leu298Phe		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133242	0.77662	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.74737	-0.87;-0.87	5.95	5.08	0.68730	Cadherin (4);Cadherin-like (1);	0.000000	0.44483	D	0.000446	D	0.89332	0.6685	H	0.94886	3.595	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.91713	0.5383	10	0.87932	D	0	-13.5993	12.7411	0.57253	0.0:0.9211:0.0:0.0789	.	298	Q12864	CAD17_HUMAN	F	298	ENSP00000027335:L298F;ENSP00000401468:L298F	ENSP00000027335:L298F	L	-	3	2	CDH17	95252279	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.531000	0.53546	1.518000	0.48934	0.650000	0.86243	TTG		0.428	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		A	95183103	C	A	95183103	3	1	350	1	0	0	0	0	1	0	0	0	3104	593	21	4	1648	4	CDH17	8	95183103	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	64539337	95183103	51180919	48	20014											
DPY19L4	286148	hgsc.bcm.edu	37	8	95793334	95793334	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr8:95793334A>C	ENST00000414645.2	+	16	1754	c.1655A>C	c.(1654-1656)gAa>gCa	p.E552A		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	552						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTAATGACAGAATTAATGGAA	0.308																																																0													60	62	61					8																	95793334		2203	4295	6498	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1655A>C	8.37:g.95793334A>C	ENSP00000389630:p.Glu552Ala		Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409996	0.83340	.	.	ENSG00000156162	ENST00000414645	T	0.58060	0.36	5.34	5.34	0.76211	.	0.050452	0.85682	D	0.000000	T	0.64382	0.2593	M	0.74647	2.275	0.58432	D	0.999997	P	0.52170	0.951	P	0.51297	0.665	T	0.68554	-0.5378	10	0.52906	T	0.07	-17.1083	15.356	0.74428	1.0:0.0:0.0:0.0	.	552	Q7Z388	D19L4_HUMAN	A	552	ENSP00000389630:E552A	ENSP00000389630:E552A	E	+	2	0	DPY19L4	95862510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.291000	0.89927	2.023000	0.59567	0.455000	0.32223	GAA		0.308	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		C	95793334	A	C	95793334	3	2	350	1	0	0	0	0	1	0	0	0	4745	246	9	5	1717	5	DPY19L4	8	95793334	Missense_Mutation	SNP	A	TCGA-BP-4761-01A-01D-1366-10	610231	95793334	50570688	49	20015											
RIMS2	9699	hgsc.bcm.edu	37	8	104987673	104987673	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr8:104987673C>A	ENST00000436393.2	+	14	2441	c.2200C>A	c.(2200-2202)Cat>Aat	p.H734N	RIMS2_ENST00000507740.1_Missense_Mutation_p.H748N|RIMS2_ENST00000262231.10_Missense_Mutation_p.H795N|RIMS2_ENST00000406091.3_Missense_Mutation_p.H956N			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1018	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.H1023D(1)|p.H956D(1)|p.H748D(1)|p.H734D(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGGTCTCCTCATCGAGTAGA	0.418										HNSCC(12;0.0054)																																						4	Substitution - Missense(4)	urinary_tract(4)											106	104	104					8																	104987673		1919	4126	6045	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2200C>A	8.37:g.104987673C>A	ENSP00000390665:p.His734Asn		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.118266	0.77323	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.20738	2.05;2.44;2.24;2.22;2.15;2.66	4.98	4.98	0.66077	.	.	.	.	.	T	0.45094	0.1325	L	0.57536	1.79	0.80722	D	1	D;B;D;D;D;D	0.65815	0.995;0.029;0.958;0.986;0.962;0.962	D;B;D;D;D;D	0.77004	0.989;0.105;0.943;0.974;0.946;0.946	T	0.39143	-0.9628	9	0.66056	D	0.02	.	18.6146	0.91297	0.0:1.0:0.0:0.0	.	1018;1018;734;795;748;956	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	N	956;971;956;1018;795;748;748;734	ENSP00000427018:H956N;ENSP00000384892:H956N;ENSP00000262231:H795N;ENSP00000423559:H748N;ENSP00000386228:H748N;ENSP00000390665:H734N	ENSP00000262231:H795N	H	+	1	0	RIMS2	105056849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.586000	0.67503	2.474000	0.83562	0.561000	0.74099	CAT		0.418	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		A	104987673	C	A	104987673	3	1	350	1	0	0	0	0	1	0	0	0	13374	826	29	4	3054	4	RIMS2	8	104987673	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	9194339	104987673	41376349	50	20016											
DEPDC6	64798	hgsc.bcm.edu;ucsc.edu	37	8	121021276	121021276	+	Silent	SNP	T	T	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr8:121021276T>C	ENST00000286234.5	+	8	1135	c.1005T>C	c.(1003-1005)ggT>ggC	p.G335G	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Silent_p.G234G	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	335	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						AGATTGTTGGTGACGCGGTTG	0.532																																																0													172	113	133					8																	121021276		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"DEP domain containing 6"	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.1005T>C	8.37:g.121021276T>C			B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Silent	SNP	ENST00000286234.5	37	CCDS6331.1																																																																																				0.532	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		C	121021276	T	C	121021276	2	2	350	1	0	0	0	0	0	0	0	1	4445	1683	59	3		3	DEPDC6	8	121021276	Silent	SNP	T	TCGA-BP-4761-01A-01D-1366-10	16033603	121021276	25342746	51	20017											
SMARCA2	6595	hgsc.bcm.edu;ucsc.edu	37	9	2081838	2081838	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr9:2081838G>T	ENST00000382203.1	+	15	2400	c.2191G>T	c.(2191-2193)Ggc>Tgc	p.G731C	SMARCA2_ENST00000382194.1_Missense_Mutation_p.G731C|SMARCA2_ENST00000349721.2_Missense_Mutation_p.G731C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G731C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	731					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCAGCTCCAGGGCCTGGAATG	0.428																																																0													117	109	112					9																	2081838		2203	4300	6503	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2191G>T	9.37:g.2081838G>T	ENSP00000371638:p.Gly731Cys		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719718	0.89205	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	5.52	5.52	0.82312	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98968	1.0800	10	0.87932	D	0	-17.9432	19.4306	0.94762	0.0:0.0:1.0:0.0	.	332;731;731	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	C	731	ENSP00000265773:G731C;ENSP00000349788:G731C;ENSP00000371638:G731C;ENSP00000371629:G731C	ENSP00000265773:G731C	G	+	1	0	SMARCA2	2071838	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.610000	0.88304	0.591000	0.81541	GGC		0.428	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		T	2081838	G	T	2081838	3	4	350	1	0	0	0	0	1	0	0	0	14775	1232	43	4	2245	4	SMARCA2	9	2081838	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10		2081838	139131593	52	20018											
DOLPP1	57171	hgsc.bcm.edu	37	9	131848530	131848530	+	Missense_Mutation	SNP	C	C	T	rs140111931		TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr9:131848530C>T	ENST00000372546.4	+	6	606	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	DOLPP1_ENST00000406974.3_Intron|DOLPP1_ENST00000540102.1_Intron	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	192					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)	p.P192S(1)		endometrium(3)|kidney(2)|lung(7)|skin(1)	13						CCCGCTGTTCCCCAGGATAGC	0.637																																																1	Substitution - Missense(1)	skin(1)											84	65	72					9																	131848530		2203	4300	6503	SO:0001583	missense	57171			BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"linked to Surfeit genes in Fugu rubripes 2"	614516	"dolichyl pyrophosphate phosphatase 1"			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.574C>T	9.37:g.131848530C>T	ENSP00000361625:p.Pro192Ser		A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Missense_Mutation	SNP	ENST00000372546.4	37	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910528	0.92107	.	.	ENSG00000167130	ENST00000372546	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86609	0.1871	9	0.62326	D	0.03	-10.8493	18.4663	0.90757	0.0:1.0:0.0:0.0	.	192	Q86YN1	DOPP1_HUMAN	S	192	.	ENSP00000361625:P192S	P	+	1	0	DOLPP1	130888351	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.457000	0.80775	2.604000	0.88044	0.456000	0.33151	CCC		0.637	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438		T	131848530	C	T	131848530	3	4	350	1	0	0	0	0	1	0	0	0	4706	623	22	2	596	2	DOLPP1	9	131848530	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	129766692	131848530	9364901	53	20019											
ITIH2	3698	hgsc.bcm.edu;ucsc.edu	37	10	7780665	7780665	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr10:7780665T>C	ENST00000358415.4	+	16	2205	c.2039T>C	c.(2038-2040)aTg>aCg	p.M680T	ITIH2_ENST00000379587.4_Missense_Mutation_p.M669T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	680					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGATCTCCATGCTGGCACAA	0.572																																																0													126	107	113					10																	7780665		2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2039T>C	10.37:g.7780665T>C	ENSP00000351190:p.Met680Thr		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	T	4.864	0.160583	0.09287	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.01397	4.94;4.94	5.23	5.23	0.72850	.	0.728615	0.11175	U	0.591612	T	0.01765	0.0056	L	0.36672	1.1	0.35830	D	0.825246	B	0.11235	0.004	B	0.08055	0.003	T	0.48340	-0.9044	10	0.13108	T	0.6	-15.6647	12.5059	0.55981	0.0:0.0:0.0:1.0	.	680	P19823	ITIH2_HUMAN	T	680;669	ENSP00000351190:M680T;ENSP00000368906:M669T	ENSP00000351190:M680T	M	+	2	0	ITIH2	7820671	0.937000	0.31787	0.239000	0.24122	0.005000	0.04900	2.600000	0.46240	1.985000	0.57927	0.454000	0.30748	ATG		0.572	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		C	7780665	T	C	7780665	3	2	350	1	0	0	0	0	1	0	0	0	7906	1464	51	3	2101	3	ITIH2	10	7780665	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10		7780665	127754082	54	20020											
CDHR1	92211	hgsc.bcm.edu;ucsc.edu	37	10	85960364	85960364	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr10:85960364C>T	ENST00000372117.3	+	6	549	c.446C>T	c.(445-447)cCt>cTt	p.P149L	CDHR1_ENST00000332904.3_Missense_Mutation_p.P149L|CDHR1_ENST00000440770.2_5'Flank	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	149	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CAGGACATACCTGCTGGGAGC	0.597																																																0													84	61	68					10																	85960364		2203	4300	6503	SO:0001583	missense	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.446C>T	10.37:g.85960364C>T	ENSP00000361189:p.Pro149Leu		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094411	0.56075	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.01647	4.71;4.71	5.44	4.53	0.55603	Cadherin (4);Cadherin-like (1);	0.303131	0.36740	N	0.002434	T	0.03305	0.0096	L	0.60067	1.865	0.80722	D	1	B;B	0.16802	0.019;0.014	B;B	0.24848	0.015;0.056	T	0.44375	-0.9332	10	0.35671	T	0.21	-6.4291	14.4543	0.67407	0.1488:0.8512:0.0:0.0	.	149;149	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	L	149	ENSP00000331063:P149L;ENSP00000361189:P149L	ENSP00000331063:P149L	P	+	2	0	CDHR1	85950344	0.998000	0.40836	0.996000	0.52242	0.945000	0.59286	3.357000	0.52277	1.260000	0.44134	-0.182000	0.12963	CCT		0.597	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		T	85960364	C	T	85960364	3	4	350	1	0	0	0	0	1	0	0	0	3120	681	24	2	468	2	CDHR1	10	85960364	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	78179699	85960364	49574383	55	20021											
ACCSL	390110	hgsc.bcm.edu;ucsc.edu	37	11	44081417	44081417	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr11:44081417G>A	ENST00000378832.1	+	14	1710	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	552					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGTGCTGCAGGAGCAGAAGGA	0.532																																																0													321	320	320					11																	44081417		2038	4200	6238	SO:0001583	missense	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1654G>A	11.37:g.44081417G>A	ENSP00000368109:p.Glu552Lys			Missense_Mutation	SNP	ENST00000378832.1	37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623416	0.46840	.	.	ENSG00000205126	ENST00000378832	T	0.23754	1.89	3.74	2.83	0.33086	Pyridoxal phosphate-dependent transferase, major domain (1);	0.059177	0.64402	D	0.000003	T	0.13072	0.0317	N	0.19112	0.55	0.09310	N	0.999995	B	0.28378	0.209	B	0.26094	0.066	T	0.22068	-1.0227	10	0.18276	T	0.48	-3.2179	7.2116	0.25937	0.1208:0.0:0.8792:0.0	.	552	Q4AC99	1A1L2_HUMAN	K	552	ENSP00000368109:E552K	ENSP00000368109:E552K	E	+	1	0	ACCSL	44037993	0.004000	0.15560	0.005000	0.12908	0.072000	0.16883	0.859000	0.27858	1.155000	0.42497	0.561000	0.74099	GAG		0.532	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		A	44081417	G	A	44081417	3	1	350	1	0	0	0	0	1	0	0	0	134	1175	41	2	1708	2	ACCSL	11	44081417	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10		44081417	90925099	56	20022											
NRXN2	9379	hgsc.bcm.edu;ucsc.edu	37	11	64417942	64417942	+	Silent	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr11:64417942G>A	ENST00000377551.1	-	14	3298	c.3087C>T	c.(3085-3087)ggC>ggT	p.G1029G	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Silent_p.G1022G|NRXN2_ENST00000377559.3_Silent_p.G989G|NRXN2_ENST00000265459.6_Silent_p.G1029G			Q9P2S2	NRX2A_HUMAN	neurexin 2	1029	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGTTTCGGGCGCCATTGGAGT	0.617																																																0													196	168	177					11																	64417942		2201	4297	6498	SO:0001819	synonymous_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3087C>T	11.37:g.64417942G>A			A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																				0.617	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		A	64417942	G	A	64417942	2	1	350	1	0	0	0	0	0	0	0	1	10668	1074	38	1		1	NRXN2	11	64417942	Silent	SNP	G	TCGA-BP-4761-01A-01D-1366-10	20336525	64417942	70588574	57	20023											
ARHGAP20	57569	hgsc.bcm.edu;ucsc.edu	37	11	110451543	110451543	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr11:110451543G>T	ENST00000260283.4	-	16	2411	c.2127C>A	c.(2125-2127)gaC>gaA	p.D709E	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D686E|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D252E|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D683E|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D683E|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D673E|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D673E	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	709					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AATCCAGATAGTCGATGCTGG	0.498																																																0													64	64	64					11																	110451543		2201	4298	6499	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2127C>A	11.37:g.110451543G>T	ENSP00000260283:p.Asp709Glu		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388435	0.61956	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.10960	2.85;2.85;2.82;2.85;2.85;2.85;2.85	5.71	3.78	0.43462	.	0.226096	0.37483	N	0.002070	T	0.11623	0.0283	M	0.63428	1.95	0.09310	N	1	P;P;P	0.41848	0.763;0.651;0.763	B;B;B	0.37144	0.242;0.039;0.121	T	0.14035	-1.0487	10	0.52906	T	0.07	.	8.7291	0.34487	0.2466:0.0:0.7534:0.0	.	683;709;686	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	E	709;683;252;686;673;683;673	ENSP00000260283:D709E;ENSP00000349660:D683E;ENSP00000437905:D252E;ENSP00000432076:D686E;ENSP00000436319:D673E;ENSP00000436522:D683E;ENSP00000431399:D673E	ENSP00000260283:D709E	D	-	3	2	ARHGAP20	109956753	0.998000	0.40836	0.001000	0.08648	0.949000	0.60115	3.656000	0.54467	0.714000	0.32081	0.655000	0.94253	GAC		0.498	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		T	110451543	G	T	110451543	3	4	350	1	0	0	0	0	1	0	0	0	870	1020	36	4	1452	4	ARHGAP20	11	110451543	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	46033601	110451543	24554973	58	20024											
DDX23	9416	hgsc.bcm.edu;ucsc.edu	37	12	49224320	49224320	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr12:49224320G>C	ENST00000308025.3	-	17	2474	c.2395C>G	c.(2395-2397)Cca>Gca	p.P799A		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	799	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGGGCATCTGGGTGGTTGGCT	0.562																																																0													113	101	105					12																	49224320		2203	4300	6503	SO:0001583	missense	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.2395C>G	12.37:g.49224320G>C	ENSP00000310723:p.Pro799Ala		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625949	0.87560	.	.	ENSG00000174243	ENST00000308025	T	0.19669	2.13	5.97	5.97	0.96955	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	L	0.46741	1.465	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.01626	-1.1309	10	0.40728	T	0.16	-9.642	19.1994	0.93704	0.0:0.0:1.0:0.0	.	799	Q9BUQ8	DDX23_HUMAN	A	799	ENSP00000310723:P799A	ENSP00000310723:P799A	P	-	1	0	DDX23	47510587	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.744000	0.98853	2.837000	0.97791	0.655000	0.94253	CCA		0.562	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		C	49224320	G	C	49224320	3	2	350	1	0	0	0	0	1	0	0	0	4352	1232	43	4	71	4	DDX23	12	49224320	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10		49224320	84627575	59	20025											
LIMA1	51474	hgsc.bcm.edu	37	12	50589647	50589647	+	Silent	SNP	C	C	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr12:50589647C>T	ENST00000341247.4	-	8	1145	c.996G>A	c.(994-996)ctG>ctA	p.L332L	LIMA1_ENST00000552783.1_Silent_p.L172L|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Silent_p.L332L|LIMA1_ENST00000552823.1_Silent_p.L172L|LIMA1_ENST00000547825.1_Silent_p.L30L|LIMA1_ENST00000552909.1_Silent_p.L172L|LIMA1_ENST00000552491.1_Silent_p.L30L	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	332					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AACGGACTGCCAGGCTATTCT	0.378																																																0													63	61	62					12																	50589647		2203	4300	6503	SO:0001819	synonymous_variant	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.996G>A	12.37:g.50589647C>T			B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	37	CCDS8802.1																																																																																				0.378	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		T	50589647	C	T	50589647	2	4	350	1	0	0	0	0	0	0	0	1	8798	581	21	2		2	LIMA1	12	50589647	Silent	SNP	C	TCGA-BP-4761-01A-01D-1366-10	1365327	50589647	83262248	60	20026											
KDM2B	84678	hgsc.bcm.edu;ucsc.edu	37	12	122013702	122013702	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr12:122013702C>A	ENST00000377071.4	-	3	406	c.334G>T	c.(334-336)Gat>Tat	p.D112Y	KDM2B_ENST00000377069.4_Missense_Mutation_p.D81Y|KDM2B_ENST00000538046.2_Missense_Mutation_p.D112Y|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	112					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCAGTCCATCCTTTTCTCGA	0.408																																																0													161	157	158					12																	122013702		1873	4087	5960	SO:0001583	missense	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.334G>T	12.37:g.122013702C>A	ENSP00000366271:p.Asp112Tyr		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426821	0.83667	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000539371	T;T;T	0.51325	2.28;1.68;0.71	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000018	T	0.71409	0.3336	M	0.88570	2.965	0.80722	D	1	P;D;P	0.60575	0.515;0.988;0.922	B;P;B	0.57425	0.323;0.82;0.361	T	0.77474	-0.2574	10	0.72032	D	0.01	-21.0977	19.4987	0.95085	0.0:1.0:0.0:0.0	.	112;112;81	E7EML5;Q8NHM5;A8MRS1	.;KDM2B_HUMAN;.	Y	112;81;112;112;112;75;81	ENSP00000366269:D81Y;ENSP00000366271:D112Y;ENSP00000398279:D75Y	ENSP00000261824:D112Y	D	-	1	0	KDM2B	120498085	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.982000	0.76173	2.609000	0.88269	0.460000	0.39030	GAT		0.408	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		A	122013702	C	A	122013702	3	1	350	1	0	0	0	0	1	0	0	0	8127	855	30	4	3812	4	KDM2B	12	122013702	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	71424055	122013702	11838193	61	20027											
MPHOSPH8	54737	hgsc.bcm.edu	37	13	20208028	20208028	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr13:20208028C>G	ENST00000361479.5	+	1	208	c.140C>G	c.(139-141)gCc>gGc	p.A47G	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A47G	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	47					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GGAGCGGAGGCCTTTGGCGAC	0.622																																																0													54	43	47					13																	20208028		2202	4300	6502	SO:0001583	missense	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.140C>G	13.37:g.20208028C>G	ENSP00000355388:p.Ala47Gly		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502091	0.26949	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.35605	1.31;1.3	4.49	1.81	0.25067	.	.	.	.	.	T	0.27205	0.0667	L	0.36672	1.1	0.23956	N	0.996354	B;P;P	0.46784	0.18;0.873;0.884	B;B;B	0.43838	0.083;0.385;0.433	T	0.09357	-1.0678	9	0.38643	T	0.18	.	4.4461	0.11598	0.1556:0.5883:0.0:0.2561	.	47;47;47	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	G	47	ENSP00000414663:A47G;ENSP00000355388:A47G	ENSP00000355388:A47G	A	+	2	0	MPHOSPH8	19106028	0.709000	0.27886	0.146000	0.22360	0.071000	0.16799	0.522000	0.22909	0.253000	0.21552	0.561000	0.74099	GCC		0.622	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		G	20208028	C	G	20208028	3	3	350	1	0	0	0	0	1	0	0	0	9729	739	26	4	142	4	MPHOSPH8	13	20208028	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10		20208028	94961850	62	20028											
IRF9	10379	hgsc.bcm.edu;ucsc.edu	37	14	24632648	24632648	+	Silent	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr14:24632648G>A	ENST00000396864.3	+	4	713	c.426G>A	c.(424-426)agG>agA	p.R142R	IRF9_ENST00000557894.1_Silent_p.R40R|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	142					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R142S(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTCTGAGAGGAAGGAGGAAG	0.532																																																1	Substitution - Missense(1)	ovary(1)											172	160	164					14																	24632648		2203	4300	6503	SO:0001819	synonymous_variant	10379			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.426G>A	14.37:g.24632648G>A			D3DS61	Silent	SNP	ENST00000396864.3	37	CCDS9615.1																																																																																				0.532	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			A	24632648	G	A	24632648	2	1	350	1	0	0	0	0	0	0	0	1	7839	1165	41	2		2	IRF9	14	24632648	Silent	SNP	G	TCGA-BP-4761-01A-01D-1366-10		24632648	82716892	63	20029											
DUOXA1	90527	hgsc.bcm.edu;ucsc.edu	37	15	45412946	45412946	+	Missense_Mutation	SNP	C	C	T	rs75981505	byFrequency	TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr15:45412946C>T	ENST00000560572.1	-	4	403	c.398G>A	c.(397-399)cGc>cAc	p.R133H	DUOXA1_ENST00000430224.2_Missense_Mutation_p.R88H|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R133H|DUOXA1_ENST00000267803.4_Missense_Mutation_p.R133H|DUOXA1_ENST00000558422.1_Missense_Mutation_p.R88H|DUOXA1_ENST00000558996.1_Missense_Mutation_p.R88H	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	133					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R133H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CTCACCCAGGCGCCAGGTGAA	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		19898	0.001		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						C	HIS/ARG	0,4396		0,0,2198	161	162	162		398	-2.4	1	15	dbSNP_131	162	2,8594	3.0+/-9.4	0,2,4296	yes	missense	DUOXA1	NM_144565.2	29	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	benign	133/484	45412946	2,12990	2198	4298	6496	SO:0001583	missense	90527			BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.398G>A	15.37:g.45412946C>T	ENSP00000454084:p.Arg133His		Q8N6K9|Q96MI4	Missense_Mutation	SNP	ENST00000560572.1	37		.	.	.	.	.	.	.	.	.	.	C	13.35	2.211640	0.39102	0.0	2.33E-4	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.55413	0.52;0.52	5.44	-2.44	0.06502	.	0.576970	0.20211	N	0.096902	T	0.32285	0.0824	N	0.24115	0.695	0.23528	N	0.997485	B;B;B;B	0.21905	0.062;0.014;0.008;0.031	B;B;B;B	0.24541	0.054;0.011;0.014;0.036	T	0.19844	-1.0293	10	0.54805	T	0.06	-6.7677	7.3991	0.26954	0.0:0.3832:0.1165:0.5003	.	88;88;133;133	B5M0C0;B5M0B8;Q1HG43;A8K9Q6	.;.;DOXA1_HUMAN;.	H	133;88	ENSP00000267803:R133H;ENSP00000415512:R88H	ENSP00000267803:R133H	R	-	2	0	DUOXA1	43200238	0.000000	0.05858	0.981000	0.43875	0.718000	0.41266	-1.290000	0.02777	-0.291000	0.09012	-0.133000	0.14855	CGC		0.567	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		T	45412946	C	T	45412946	3	4	350	1	0	0	0	0	1	0	0	0	4804	768	27	1	1073	1	DUOXA1	15	45412946	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10		45412946	57118446	64	20030											
RBBP6	5930	hgsc.bcm.edu;ucsc.edu	37	16	24580912	24580912	+	Silent	SNP	A	A	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr16:24580912A>G	ENST00000319715.4	+	17	3333	c.2901A>G	c.(2899-2901)gaA>gaG	p.E967E	RBBP6_ENST00000348022.2_Silent_p.E933E|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	967					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAGGTGTTGAAGAAAATAAAA	0.383																																																0													59	63	61					16																	24580912		2178	4294	6472	SO:0001819	synonymous_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.2901A>G	16.37:g.24580912A>G			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	CCDS10621.1																																																																																				0.383	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		G	24580912	A	G	24580912	2	3	350	1	0	0	0	0	0	0	0	1	13109	69	3	3		3	RBBP6	16	24580912	Silent	SNP	A	TCGA-BP-4761-01A-01D-1366-10		24580912	65773841	65	20031											
ZNF423	23090	hgsc.bcm.edu;ucsc.edu	37	16	49670635	49670635	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr16:49670635T>C	ENST00000561648.1	-	4	2481	c.2428A>G	c.(2428-2430)Aag>Gag	p.K810E	ZNF423_ENST00000262383.2_Missense_Mutation_p.K810E|ZNF423_ENST00000535559.1_Missense_Mutation_p.K693E|ZNF423_ENST00000562520.1_Missense_Mutation_p.K750E|ZNF423_ENST00000567169.1_Missense_Mutation_p.K693E|ZNF423_ENST00000563137.2_Missense_Mutation_p.K750E|ZNF423_ENST00000562871.1_Missense_Mutation_p.K750E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	810					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGCAGAACTTACAGTTATAC	0.572																																																0													184	178	180					16																	49670635		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2428A>G	16.37:g.49670635T>C	ENSP00000455426:p.Lys810Glu		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.779355	0.31502	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27557	1.66;1.66	4.81	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.252836	0.38837	N	0.001560	T	0.20129	0.0484	N	0.11870	0.19	0.24055	N	0.996032	B	0.33549	0.417	B	0.39935	0.314	T	0.19160	-1.0314	9	.	.	.	-13.397	11.5692	0.50824	0.0:0.0:0.1498:0.8502	.	810	Q2M1K9	ZN423_HUMAN	E	810;693	ENSP00000262383:K810E;ENSP00000442321:K693E	.	K	-	1	0	ZNF423	48228136	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	5.154000	0.64894	0.675000	0.31264	0.459000	0.35465	AAG		0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		C	49670635	T	C	49670635	3	2	350	1	0	0	0	0	1	0	0	0	17903	1763	61	3	1446	3	ZNF423	16	49670635	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10	25089723	49670635	40684118	66	20032											
BANP	54971	hgsc.bcm.edu	37	16	88052146	88052146	+	Silent	SNP	C	C	T	rs17850504	byFrequency	TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr16:88052146C>T	ENST00000393207.1	+	7	965	c.744C>T	c.(742-744)gcC>gcT	p.A248A	BANP_ENST00000355022.4_Silent_p.A217A|BANP_ENST00000393208.2_Silent_p.A217A|BANP_ENST00000538234.1_Silent_p.A256A|BANP_ENST00000355163.5_Silent_p.A223A|BANP_ENST00000479780.2_Silent_p.A217A|BANP_ENST00000286122.7_Silent_p.A248A	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	248	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.|Interaction with CUX1 and HDAC1. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCCGCACGGCCGAGAAGATGG	0.647													c|||	260	0.0519169	0.0061	0.1037	5008	,	,		19807	0.003		0.1153	False		,,,				2504	0.0624															0								C	,,,,,,	113,4281	84.4+/-122.9	1,111,2085	55	44	48		768,669,651,768,744,651,651	-2.1	1	16	dbSNP_123	48	1129,7471	231.2+/-265.3	74,981,3245	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BANP	NM_001173539.1,NM_001173540.1,NM_001173541.1,NM_001173542.1,NM_001173543.1,NM_017869.3,NM_079837.2	,,,,,,	75,1092,5330	TT,TC,CC		13.1279,2.5717,9.5583	,,,,,,	256/506,223/498,217/467,256/509,248/520,217/470,217/492	88052146	1242,11752	2197	4300	6497	SO:0001819	synonymous_variant	54971			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.744C>T	16.37:g.88052146C>T			A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	CCDS54054.1																																																																																				0.647	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		T	88052146	C	T	88052146	2	4	350	1	0	0	0	0	0	0	0	1	1310	639	23	1		1	BANP	16	88052146	Silent	SNP	C	TCGA-BP-4761-01A-01D-1366-10	38381511	88052146	2302607	67	20033											
DEF8	54849	hgsc.bcm.edu	37	16	90020723	90020723	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr16:90020723G>T	ENST00000268676.7	+	3	335	c.246G>T	c.(244-246)caG>caT	p.Q82H	DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Missense_Mutation_p.Q21H|DEF8_ENST00000563594.1_Missense_Mutation_p.Q21H|DEF8_ENST00000570182.1_Missense_Mutation_p.Q21H|DEF8_ENST00000418391.2_Missense_Mutation_p.Q21H|DEF8_ENST00000563795.1_Missense_Mutation_p.Q21H	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	82					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TCAACAAGCAGTCTGGGCCGA	0.637																																																0													75	73	73					16																	90020723		2198	4300	6498	SO:0001583	missense	54849			AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.246G>T	16.37:g.90020723G>T	ENSP00000268676:p.Gln82His		B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749911	0.30955	.	.	ENSG00000140995	ENST00000268676;ENST00000418391	T;T	0.47177	0.85;0.86	4.99	2.99	0.34606	.	0.507825	0.20701	N	0.087273	T	0.40448	0.1117	L	0.60455	1.87	0.28158	N	0.929125	B;B;B;B	0.09022	0.0;0.0;0.001;0.002	B;B;B;B	0.10450	0.001;0.002;0.001;0.005	T	0.40496	-0.9560	10	0.62326	D	0.03	-18.9866	5.8024	0.18422	0.1681:0.3039:0.528:0.0	.	21;21;82;21	Q6ZN54-5;Q6ZN54-3;Q6ZN54;Q6ZN54-2	.;.;DEFI8_HUMAN;.	H	82;21	ENSP00000268676:Q82H;ENSP00000412784:Q21H	ENSP00000268676:Q82H	Q	+	3	2	DEF8	88548224	0.938000	0.31826	0.606000	0.28943	0.677000	0.39632	1.376000	0.34306	0.601000	0.29879	0.561000	0.74099	CAG		0.637	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		T	90020723	G	T	90020723	3	4	350	1	0	0	0	0	1	0	0	0	4389	1020	36	4	252	4	DEF8	16	90020723	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	1968577	90020723	334030	68	20034											
ITGAE	3682	hgsc.bcm.edu;ucsc.edu	37	17	3667207	3667207	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr17:3667207T>C	ENST00000263087.4	-	3	301	c.203A>G	c.(202-204)cAt>cGt	p.H68R		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	68					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GGAACATCGATGGAGGGGCCC	0.567																																					NSCLC(182;635 2928 8995 38788)											0													86	80	82					17																	3667207		2203	4300	6503	SO:0001583	missense	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.203A>G	17.37:g.3667207T>C	ENSP00000263087:p.His68Arg		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.662985	0.29515	.	.	ENSG00000083457	ENST00000263087	D	0.97066	-4.23	3.76	3.76	0.43208	.	.	.	.	.	D	0.94212	0.8142	L	0.43923	1.385	0.09310	N	1	B	0.30763	0.294	B	0.30251	0.113	D	0.90266	0.4304	9	0.87932	D	0	.	9.1616	0.37025	0.0:0.0:0.0:1.0	.	68	P38570	ITAE_HUMAN	R	68	ENSP00000263087:H68R	ENSP00000263087:H68R	H	-	2	0	ITGAE	3613956	0.094000	0.21725	0.177000	0.23020	0.012000	0.07955	2.031000	0.41117	1.957000	0.56846	0.421000	0.28195	CAT		0.567	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		C	3667207	T	C	3667207	3	2	350	1	0	0	0	0	1	0	0	0	7887	1464	51	3	3452	3	ITGAE	17	3667207	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10		3667207	77528003	69	20035											
GPR172B	55065	hgsc.bcm.edu	37	17	4936580	4936582	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	GCC	GCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr17:4936580_4936582delGCC	ENST00000424747.1	-	4	1820_1822	c.1108_1110delGGC	c.(1108-1110)ggcdel	p.G370del	SLC52A1_ENST00000254853.5_In_Frame_Del_p.G370del|SLC52A1_ENST00000512825.2_Intron	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	370					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										CTGCAGTGGTGCCCACCAGGGGT	0.626																																																0																																										SO:0001651	inframe_deletion	0			AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"Solute carriers"	30225	protein-coding gene	gene with protein product	"riboflavin transporter 1"	607883	"G protein-coupled receptor 172B"	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.1108_1110delGGC	17.37:g.4936580_4936582delGCC	ENSP00000399979:p.Gly370del		B5MEV1|B5MEV2|Q6P9E0|Q86UT0	In_Frame_Del	DEL	ENST00000424747.1	37	CCDS11066.1																																																																																				0.626	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		-	4936582	GCC	-	4936580	7	5	350	1	0	1	0	1	0	0	0	0	6672	1306	46	0	244	0	GPR172B	17	4936580	In_Frame_Del	DEL	GCC	TCGA-BP-4761-01A-01D-1366-10	1269373	4936580	76258630	70	20036											
PIK3R5	23533	hgsc.bcm.edu	37	17	8791992	8791992	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr17:8791992A>C	ENST00000447110.1	-	10	1236	c.1112T>G	c.(1111-1113)cTc>cGc	p.L371R	PIK3R5_ENST00000581552.1_Missense_Mutation_p.L371R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.L371R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	371					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATGGCGCGAGAGGGCCGGCCC	0.637																																					NSCLC(18;589 615 7696 20311 50332)											0													65	69	68					17																	8791992		2203	4300	6503	SO:0001583	missense	23533			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1112T>G	17.37:g.8791992A>C	ENSP00000392812:p.Leu371Arg		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	A	8.924	0.961859	0.18583	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.82803	-1.65	5.51	5.51	0.81932	.	0.403824	0.25935	N	0.027350	D	0.83376	0.5241	N	0.24115	0.695	0.39711	D	0.971322	D	0.54397	0.966	P	0.58331	0.837	D	0.86648	0.1896	10	0.87932	D	0	-31.2461	15.2751	0.73737	1.0:0.0:0.0:0.0	.	371	Q8WYR1	PI3R5_HUMAN	R	371	ENSP00000392812:L371R	ENSP00000269300:L371R	L	-	2	0	PIK3R5	8732717	0.981000	0.34729	0.344000	0.25628	0.259000	0.26198	5.561000	0.67339	2.096000	0.63516	0.528000	0.53228	CTC		0.637	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		C	8791992	A	C	8791992	3	2	350	1	0	0	0	0	1	0	0	0	11924	304	11	5	1570	5	PIK3R5	17	8791992	Missense_Mutation	SNP	A	TCGA-BP-4761-01A-01D-1366-10	3855412	8791992	72403218	71	20037											
NBR1	4077	hgsc.bcm.edu;ucsc.edu	37	17	41327859	41327859	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr17:41327859A>T	ENST00000422280.1	+	2	502	c.43A>T	c.(43-45)Att>Ttt	p.I15F	NBR1_ENST00000589872.1_Missense_Mutation_p.I15F|NBR1_ENST00000389312.4_Missense_Mutation_p.I15F|NBR1_ENST00000590996.1_Missense_Mutation_p.I15F|NBR1_ENST00000542611.1_Missense_Mutation_p.I15F|NBR1_ENST00000341165.6_Missense_Mutation_p.I15F	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	15					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TAAAAATGAAATTCAAAGCTT	0.388																																																0													88	79	82					17																	41327859		1818	4071	5889	SO:0001583	missense	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.43A>T	17.37:g.41327859A>T	ENSP00000411250:p.Ile15Phe		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	.	15.75	2.926058	0.52759	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.43688	1.87;0.94;1.87;1.87	4.91	3.82	0.43975	Phox/Bem1p (2);	0.558514	0.17559	N	0.169887	T	0.30135	0.0755	N	0.22421	0.69	0.29835	N	0.829665	B;B;B	0.30281	0.275;0.273;0.131	B;B;B	0.35278	0.054;0.169;0.199	T	0.29488	-1.0010	10	0.66056	D	0.02	-2.0397	7.0648	0.25145	0.6984:0.1542:0.0:0.1475	.	15;15;15	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	F	15	ENSP00000411250:I15F;ENSP00000437545:I15F;ENSP00000343479:I15F;ENSP00000373963:I15F	ENSP00000343479:I15F	I	+	1	0	NBR1	38581385	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.627000	0.46469	0.885000	0.36088	0.383000	0.25322	ATT		0.388	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		T	41327859	A	T	41327859	3	4	350	1	0	0	0	0	1	0	0	0	10202	101	4	5	45	5	NBR1	17	41327859	Missense_Mutation	SNP	A	TCGA-BP-4761-01A-01D-1366-10	32535867	41327859	39867351	72	20038											
GPATCH8	23131	hgsc.bcm.edu;ucsc.edu	37	17	42475998	42475998	+	Silent	SNP	C	C	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr17:42475998C>T	ENST00000591680.1	-	8	3477	c.3447G>A	c.(3445-3447)ggG>ggA	p.G1149G	GPATCH8_ENST00000434000.1_Silent_p.G1071G	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1149							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTGGGAGCTTCCCTATCAGTG	0.552																																																0													139	145	143					17																	42475998		2203	4300	6503	SO:0001819	synonymous_variant	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3447G>A	17.37:g.42475998C>T			B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	CCDS32666.1																																																																																				0.552	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		T	42475998	C	T	42475998	2	4	350	1	0	0	0	0	0	0	0	1	6596	842	30	2		2	GPATCH8	17	42475998	Silent	SNP	C	TCGA-BP-4761-01A-01D-1366-10	1148139	42475998	38719212	73	20039											
SP2	6668	hgsc.bcm.edu;ucsc.edu	37	17	45993786	45993786	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr17:45993786C>G	ENST00000376741.4	+	3	486	c.349C>G	c.(349-351)Ccc>Gcc	p.P117A	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	117					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TATCCAGAATCCCACCATGAT	0.502																																																0													126	118	120					17																	45993786		2203	4300	6503	SO:0001583	missense	6668				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.349C>G	17.37:g.45993786C>G	ENSP00000365931:p.Pro117Ala		A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	18.20	3.572038	0.65765	.	.	ENSG00000167182	ENST00000376741;ENST00000322172	T	0.09255	3.0	5.38	4.4	0.53042	.	0.114348	0.64402	D	0.000010	T	0.29061	0.0722	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01711	-1.1290	10	0.56958	D	0.05	.	13.4267	0.61030	0.0:0.9226:0.0:0.0774	.	117	Q02086	SP2_HUMAN	A	117;110	ENSP00000365931:P117A	ENSP00000316942:P110A	P	+	1	0	SP2	43348785	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	4.385000	0.59613	1.485000	0.48380	0.460000	0.39030	CCC		0.502	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		G	45993786	C	G	45993786	3	3	350	1	0	0	0	0	1	0	0	0	14970	855	30	4	359	4	SP2	17	45993786	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10	3517788	45993786	35201424	74	20040											
APPBP2	10513	hgsc.bcm.edu;ucsc.edu	37	17	58529363	58529363	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr17:58529363T>G	ENST00000083182.3	-	12	1669	c.1382A>C	c.(1381-1383)cAa>cCa	p.Q461P		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	461					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ACCAAGAAGTTGTTCTTTAAT	0.323																																																0													99	98	98					17																	58529363		2203	4297	6500	SO:0001583	missense	10513			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1382A>C	17.37:g.58529363T>G	ENSP00000083182:p.Gln461Pro		A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.601750	0.46423	.	.	ENSG00000062725	ENST00000083182	T	0.63744	-0.06	5.2	5.2	0.72013	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	L	0.32530	0.975	0.80722	D	1	P	0.44877	0.845	P	0.55824	0.785	T	0.64711	-0.6343	10	0.46703	T	0.11	-11.1371	10.9572	0.47364	0.14:0.0:0.0:0.86	.	461	Q92624	APBP2_HUMAN	P	461	ENSP00000083182:Q461P	ENSP00000083182:Q461P	Q	-	2	0	APPBP2	55884145	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.657000	0.67996	1.969000	0.57287	0.373000	0.22412	CAA		0.323	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		G	58529363	T	G	58529363	3	3	350	1	0	0	0	0	1	0	0	0	816	1812	63	5	383	5	APPBP2	17	58529363	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10	12535577	58529363	22665847	75	20041											
NARF	26502	hgsc.bcm.edu;ucsc.edu	37	17	80430448	80430448	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr17:80430448T>A	ENST00000309794.11	+	5	592	c.394T>A	c.(394-396)Tat>Aat	p.Y132N	NARF_ENST00000581743.1_3'UTR|NARF_ENST00000345415.7_Missense_Mutation_p.Y84N|NARF_ENST00000390006.4_Missense_Mutation_p.Y73N|NARF_ENST00000412079.2_Intron|NARF_ENST00000457415.3_Missense_Mutation_p.Y132N	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	132						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGGGGTGCACTATGTATTTGA	0.438																																																0													127	117	120					17																	80430448		2203	4300	6503	SO:0001583	missense	26502			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.394T>A	17.37:g.80430448T>A	ENSP00000309899:p.Tyr132Asn		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	T	9.998	1.232820	0.22626	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.61	5.61	0.85477	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.059130	0.64402	D	0.000001	T	0.71484	0.3345	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.67145	0.995;0.965;0.996;0.996	D;P;D;D	0.77004	0.981;0.797;0.989;0.964	T	0.74922	-0.3499	10	0.39692	T	0.17	-15.4659	9.5304	0.39191	0.0:0.0779:0.0:0.9221	.	132;84;132;132	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	N	73;132;132;84	ENSP00000374656:Y73N;ENSP00000363739:Y132N;ENSP00000309899:Y132N;ENSP00000283996:Y84N	ENSP00000309899:Y132N	Y	+	1	0	NARF	78023737	1.000000	0.71417	0.983000	0.44433	0.175000	0.22909	3.620000	0.54203	2.160000	0.67779	0.529000	0.55759	TAT		0.438	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		A	80430448	T	A	80430448	3	1	350	1	0	0	0	0	1	0	0	0	10169	1522	53	5	412	5	NARF	17	80430448	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10	21901085	80430448	764762	76	20042											
MEGF8	1954	hgsc.bcm.edu	37	19	42840365	42840365	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr19:42840365A>G	ENST00000251268.6	+	6	1111	c.1111A>G	c.(1111-1113)Acc>Gcc	p.T371A	MEGF8_ENST00000334370.4_Missense_Mutation_p.T371A	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	371					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTTGACAGCACCAGCGGGGG	0.662																																																0													48	51	50					19																	42840365		2005	4158	6163	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1111A>G	19.37:g.42840365A>G	ENSP00000251268:p.Thr371Ala		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	A	6.559	0.471517	0.12461	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.65916	-0.18;-0.18	4.43	-2.78	0.05859	.	.	.	.	.	T	0.25158	0.0611	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23226	-1.0194	9	0.07990	T	0.79	.	3.0774	0.06251	0.2642:0.4903:0.0997:0.1458	.	371	Q7Z7M0-2	.	A	371	ENSP00000334219:T371A;ENSP00000251268:T371A	ENSP00000251268:T371A	T	+	1	0	MEGF8	47532205	0.004000	0.15560	0.002000	0.10522	0.588000	0.36517	-0.058000	0.11750	-0.395000	0.07715	0.397000	0.26171	ACC		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		G	42840365	A	G	42840365	3	3	350	1	0	0	0	0	1	0	0	0	9465	159	6	3	1133	3	MEGF8	19	42840365	Missense_Mutation	SNP	A	TCGA-BP-4761-01A-01D-1366-10		42840365	16288618	77	20043											
ZFP112	7771	hgsc.bcm.edu;ucsc.edu	37	19	44832958	44832958	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr19:44832958T>A	ENST00000337401.4	-	5	1458	c.1370A>T	c.(1369-1371)cAt>cTt	p.H457L	ZNF112_ENST00000354340.4_Missense_Mutation_p.H451L|ZNF112_ENST00000536500.1_Missense_Mutation_p.H474L	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GTCCTGAAAATGTGAGGCCAG	0.383																																																0													100	93	96					19																	44832958		2203	4300	6503	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1370A>T	19.37:g.44832958T>A	ENSP00000337081:p.His457Leu		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	1.441	-0.567665	0.03910	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.05649	3.41;3.42;3.42	4.73	-1.12	0.09808	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.474047	0.15704	N	0.248749	T	0.03608	0.0103	L	0.48362	1.52	0.09310	N	1	B;B;B	0.34015	0.183;0.435;0.309	B;B;B	0.28139	0.039;0.086;0.039	T	0.40346	-0.9568	10	0.09338	T	0.73	-4.2101	1.7207	0.02911	0.1514:0.3623:0.1564:0.3299	.	456;474;457	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	L	457;457;451;474;456	ENSP00000337081:H457L;ENSP00000346305:H451L;ENSP00000441990:H474L	ENSP00000253426:H456L	H	-	2	0	ZNF285	49524798	0.000000	0.05858	0.006000	0.13384	0.354000	0.29330	-0.586000	0.05787	-0.163000	0.10946	0.459000	0.35465	CAT		0.383	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		A	44832958	T	A	44832958	3	1	350	1	0	0	0	0	1	0	0	0	17643	1464	51	5	1375	5	ZFP112	19	44832958	Missense_Mutation	SNP	T	TCGA-BP-4761-01A-01D-1366-10	1992593	44832958	14296025	78	20044											
PPP2R1A	5518	hgsc.bcm.edu;ucsc.edu	37	19	52729234	52729234	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr19:52729234A>G	ENST00000322088.6	+	15	1828	c.1770A>G	c.(1768-1770)tgA>tgG	p.*590W	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Nonstop_Mutation_p.*411W|CTD-2525I3.3_ENST00000599125.1_RNA|PPP2R1A_ENST00000444322.2_Nonstop_Mutation_p.*535W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	0					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCTCGCCTGATGCTGGAAGA	0.577			Mis		clear cell ovarian carcinoma																																		Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0													231	193	206					19																	52729234		2203	4300	6503	SO:0001578	stop_lost	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1770A>G	19.37:g.52729234A>G	ENSP00000324804:p.*590Trpext*74		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.528270	0.44969	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4624	0.44587	1.0:0.0:0.0:0.0	.	.	.	.	W	580;510;590;157;535	.	.	X	+	3	0	PPP2R1A	57421046	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.106000	0.41835	2.040000	0.60383	0.528000	0.53228	TGA		0.577	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		G	52729234	A	G	52729234	4	3	350	1	0	0	0	0	0	0	0	0	12387	346	12	3	1828	3	PPP2R1A	19	52729234	Nonstop_Mutation	SNP	A	TCGA-BP-4761-01A-01D-1366-10	7896276	52729234	6399749	79	20045											
PTPRT	11122	hgsc.bcm.edu;ucsc.edu	37	20	41385109	41385109	+	Silent	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr20:41385109G>A	ENST00000373187.1	-	6	851	c.852C>T	c.(850-852)atC>atT	p.I284I	PTPRT_ENST00000373198.4_Silent_p.I284I|PTPRT_ENST00000373201.1_Silent_p.I284I|PTPRT_ENST00000373184.1_Silent_p.I284I|PTPRT_ENST00000373193.3_Silent_p.I284I|PTPRT_ENST00000356100.2_Silent_p.I284I|PTPRT_ENST00000373190.1_Silent_p.I284I			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	284	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCTTTCACGATCAGCTCCG	0.577																																																0													53	53	53					20																	41385109		2139	4244	6383	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.852C>T	20.37:g.41385109G>A			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																				0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	41385109	G	A	41385109	2	1	350	1	0	0	0	0	0	0	0	1	12818	1048	37	1		1	PTPRT	20	41385109	Silent	SNP	G	TCGA-BP-4761-01A-01D-1366-10		41385109	21640411	80	20046											
SYCP2	10388	hgsc.bcm.edu;ucsc.edu	37	20	58455486	58455486	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr20:58455486G>T	ENST00000357552.3	-	31	3038	c.2813C>A	c.(2812-2814)aCt>aAt	p.T938N	SYCP2_ENST00000371001.2_Missense_Mutation_p.T938N			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	938					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTCTGTTTCAGTATCACTAAA	0.308																																																0													92	82	86					20																	58455486		2195	4293	6488	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2813C>A	20.37:g.58455486G>T	ENSP00000350162:p.Thr938Asn		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656697	0.47467	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.28666	1.83;1.83;1.6	6.01	0.068	0.14368	.	0.420814	0.24886	N	0.034807	T	0.27134	0.0665	M	0.63843	1.955	0.37193	D	0.904039	P	0.34724	0.465	B	0.32583	0.148	T	0.23297	-1.0192	10	0.72032	D	0.01	-5.8751	9.2006	0.37256	0.0:0.2463:0.3741:0.3797	.	938	Q9BX26	SYCP2_HUMAN	N	938	ENSP00000360040:T938N;ENSP00000350162:T938N;ENSP00000402456:T938N	ENSP00000350162:T938N	T	-	2	0	SYCP2	57888881	0.962000	0.33011	0.994000	0.49952	0.540000	0.34992	0.488000	0.22371	0.080000	0.16959	-0.182000	0.12963	ACT		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		T	58455486	G	T	58455486	3	4	350	1	0	0	0	0	1	0	0	0	15437	1029	36	4	1839	4	SYCP2	20	58455486	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	17070377	58455486	4570034	81	20047											
CCT8L2	150160	hgsc.bcm.edu	37	22	17072822	17072822	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr22:17072822C>T	ENST00000359963.3	-	1	878	c.619G>A	c.(619-621)Gcg>Acg	p.A207T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCGGGCAGCGCGCACACCCCA	0.617																																																0													64	63	63					22																	17072822		2203	4300	6503	SO:0001583	missense	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.619G>A	22.37:g.17072822C>T	ENSP00000353048:p.Ala207Thr		A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	4.492	0.091233	0.08632	.	.	ENSG00000198445	ENST00000359963	T	0.76839	-1.05	1.78	-3.56	0.04626	.	1.965940	0.03364	N	0.197938	T	0.64864	0.2637	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.47420	-0.9119	9	0.59425	D	0.04	-1.6843	3.3836	0.07264	0.2022:0.456:0.0:0.3418	.	207	Q96SF2	TCPQM_HUMAN	T	207	ENSP00000353048:A207T	ENSP00000353048:A207T	A	-	1	0	CCT8L2	15452822	0.395000	0.25254	0.019000	0.16419	0.033000	0.12548	-0.256000	0.08757	-1.184000	0.02720	-0.552000	0.04208	GCG		0.617	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17072822	C	T	17072822	3	4	350	1	0	0	0	0	1	0	0	0	2963	768	27	1	1058	1	CCT8L2	22	17072822	Missense_Mutation	SNP	C	TCGA-BP-4761-01A-01D-1366-10		17072822	34231744	82	20048											
PDGFB	5155	hgsc.bcm.edu	37	22	39621821	39621821	+	Silent	SNP	C	C	A	rs148231529		TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr22:39621821C>A	ENST00000331163.6	-	6	1420	c.633G>T	c.(631-633)cgG>cgT	p.R211R	PDGFB_ENST00000381551.4_Silent_p.R196R	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	211					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.R211R(1)	COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					CTCGCACCGTCCGAATGGTCA	0.592			T	COL1A1	DFSP																																		Dom	yes		22	22q12.3-q13.1	5155	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)		M	1	Substitution - coding silent(1)	skin(1)											110	86	94					22																	39621821		2203	4300	6503	SO:0001819	synonymous_variant	5155				CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"oncogene SIS", "becaplermin"	190040	"platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.633G>T	22.37:g.39621821C>A			G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	37	CCDS13987.1																																																																																				0.592	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		A	39621821	C	A	39621821	2	1	350	1	0	0	0	0	0	0	0	1	11660	842	30	4		4	PDGFB	22	39621821	Silent	SNP	C	TCGA-BP-4761-01A-01D-1366-10	22548999	39621821	11682745	83	20049											
SEPT3	55964	hgsc.bcm.edu;ucsc.edu	37	22	42383241	42383241	+	Silent	SNP	G	G	A			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr22:42383241G>A	ENST00000396426.3	+	4	618	c.363G>A	c.(361-363)ctG>ctA	p.L121L	SEPT3_ENST00000406029.1_Silent_p.L57L|SEPT3_ENST00000328414.8_Intron|SEPT3_ENST00000291236.11_Silent_p.L57L|SEPT3_ENST00000396425.3_Silent_p.L121L	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	121	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						AAATGAAGCTGACCGTCATCG	0.502																																																0													93	87	89					22																	42383241		2203	4300	6503	SO:0001819	synonymous_variant	55964			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"Septins"	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.363G>A	22.37:g.42383241G>A			B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Silent	SNP	ENST00000396426.3	37	CCDS14026.2																																																																																				0.502	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		A	42383241	G	A	42383241	2	1	350	1	0	0	0	0	0	0	0	1	14071	1277	45	2		2	SEPT3	22	42383241	Silent	SNP	G	TCGA-BP-4761-01A-01D-1366-10	2761420	42383241	8921325	84	20050											
TUBGCP6	85378	hgsc.bcm.edu;ucsc.edu	37	22	50682713	50682713	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chr22:50682713G>T	ENST00000248846.5	-	1	280	c.176C>A	c.(175-177)cCt>cAt	p.P59H	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.P59H|HDAC10_ENST00000498366.1_5'Flank|MAPK12_ENST00000497036.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	59					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGACATGTCAGGCTGCAGCTG	0.517																																																0													84	78	80					22																	50682713		2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.176C>A	22.37:g.50682713G>T	ENSP00000248846:p.Pro59His		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971703	0.53614	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.13420	2.99;2.59	4.27	4.27	0.50696	.	0.736339	0.13036	N	0.418923	T	0.21103	0.0508	L	0.27053	0.805	0.09310	N	1	D;D;D	0.76494	0.999;0.993;0.999	P;P;P	0.62014	0.897;0.835;0.894	T	0.06607	-1.0817	10	0.72032	D	0.01	.	10.2195	0.43188	0.0926:0.0:0.9074:0.0	.	59;59;59	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	H	59	ENSP00000248846:P59H;ENSP00000397387:P59H	ENSP00000248846:P59H	P	-	2	0	TUBGCP6	49024840	0.638000	0.27225	0.663000	0.29738	0.527000	0.34593	4.020000	0.57189	2.212000	0.71576	0.561000	0.74099	CCT		0.517	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		T	50682713	G	T	50682713	3	4	350	1	0	0	0	0	1	0	0	0	16775	1000	35	4	5383	4	TUBGCP6	22	50682713	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10	8299472	50682713	621853	85	20051											
ACSL4	2182	hgsc.bcm.edu	37	X	108926066	108926066	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4761-01A-01D-1366-10	TCGA-BP-4761-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9f040c94-45f7-4bf8-8942-874f64582355	31b833b1-bdf1-414a-9a37-36039d4a7204	g.chrX:108926066G>C	ENST00000469796.2	-	4	807	c.411C>G	c.(409-411)aaC>aaG	p.N137K	ACSL4_ENST00000340800.2_Missense_Mutation_p.N137K|ACSL4_ENST00000348502.6_Missense_Mutation_p.N96K			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	137					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CACTACCAAAGTTATTCACTC	0.393																																					Pancreas(188;358 2127 38547 41466 45492)											0													148	128	134					X																	108926066		2203	4300	6503	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.411C>G	X.37:g.108926066G>C	ENSP00000419171:p.Asn137Lys		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522368	0.27211	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800;ENST00000505855;ENST00000502391	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.55	1.12	0.20585	AMP-dependent synthetase/ligase (1);	0.226039	0.51477	D	0.000094	T	0.36524	0.0970	M	0.62154	1.92	0.37591	D	0.920197	B	0.21225	0.053	B	0.25759	0.063	T	0.23226	-1.0194	10	0.21540	T	0.41	-21.5204	9.9708	0.41752	0.4213:0.0:0.5787:0.0	.	137	O60488	ACSL4_HUMAN	K	96;137;137;96;137	ENSP00000262835:N96K;ENSP00000419171:N137K;ENSP00000339787:N137K;ENSP00000424808:N96K	ENSP00000339787:N137K	N	-	3	2	ACSL4	108812722	0.974000	0.33945	1.000000	0.80357	0.958000	0.62258	0.371000	0.20450	0.139000	0.18822	0.529000	0.55759	AAC		0.393	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		C	108926066	G	C	108926066	3	2	350	1	0	0	0	0	1	0	0	0	179	1020	36	4	1776	4	ACSL4	23	108926066	Missense_Mutation	SNP	G	TCGA-BP-4761-01A-01D-1366-10		108926066	46344494	86	20052											
VHL	7428	hgsc.bcm.edu	37	3	10183851	10183851	+	Missense_Mutation	SNP	G	G	C	rs193922609		TCGA-BP-4762-01A-02W-1362-10	TCGA-BP-4762-11A-01W-1363-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	2ef103f7-37e9-437b-bda4-62dbd0980dc0	eda59487-6daa-4ba5-9bf5-a412822188d8	g.chr3:10183851G>C	ENST00000256474.2	+	1	1160	c.320G>C	c.(319-321)cGc>cCc	p.R107P	VHL_ENST00000345392.2_Missense_Mutation_p.R107P|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	107	Involved in binding to CCT complex.		R -> G (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|R -> P (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R107fs*52(3)|p.G104fs*23(2)|p.R107P(2)|p.G106fs*51(1)|p.G104fs*22(1)|p.R107fs*51(1)|p.G104fs*52(1)|p.G106fs*49(1)|p.R108fs*52(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGCACGGGCCGCCGCATCCAC	0.682		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	13	Deletion - Frameshift(10)|Substitution - Missense(2)|Insertion - Frameshift(1)	kidney(13)	GRCh37	CM023996|CM982004	VHL	M							11	12	12					3																	10183851		1662	3577	5239	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.320G>C	3.37:g.10183851G>C	ENSP00000256474:p.Arg107Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682396	0.88542	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99833	-7.03;-7.03	5.17	4.29	0.51040	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.118683	0.64402	D	0.000014	D	0.99667	0.9876	M	0.61703	1.905	0.33657	D	0.60926	D;D	0.89917	0.999;1.0	D;D	0.80764	0.979;0.994	D	0.98514	1.0620	10	0.36615	T	0.2	-15.5698	13.5883	0.61944	0.0:0.1569:0.8431:0.0	.	107;107	P40337-2;P40337	.;VHL_HUMAN	P	107	ENSP00000256474:R107P;ENSP00000344757:R107P	ENSP00000256474:R107P	R	+	2	0	VHL	10158851	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.365000	0.59486	1.175000	0.42826	0.479000	0.44913	CGC		0.682	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10183851	G	C	10183851	3	2	351	1	0	0	0	0	1	0	0	0	17167	1087	38	4	322	4	VHL	3	10183851	Missense_Mutation	SNP	G	TCGA-BP-4762-01A-02W-1362-10		10183851	187838579	1	20053											
VHL	7428	hgsc.bcm.edu	37	3	10183865	10183865	+	Missense_Mutation	SNP	T	T	G	rs104893824		TCGA-BP-4763-01A-01W-1362-10	TCGA-BP-4763-11A-01W-1363-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	ef75f641-71b8-4f30-bd7b-9a431511a148	fccc7484-7937-42da-8aa1-0a383b7ccfb8	g.chr3:10183865T>G	ENST00000256474.2	+	1	1174	c.334T>G	c.(334-336)Tac>Gac	p.Y112D	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.Y112D	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	112	Involved in binding to CCT complex.		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD). {ECO:0000269|PubMed:10533030}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Y112D(1)|p.I109_R113del(1)|p.S111_Y112del(1)|p.?(1)|p.S111fs*45(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CATCCACAGCTACCGAGGTAC	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	5	Deletion - In frame(2)|Substitution - Missense(1)|Deletion - Frameshift(1)|Unknown(1)	kidney(5)	GRCh37	CM951283|CM992977	VHL	M	rs104893824						10	11	11					3																	10183865		1826	3797	5623	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.334T>G	3.37:g.10183865T>G	ENSP00000256474:p.Tyr112Asp		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821030	0.90873	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99861	-7.26;-7.26	5.17	5.17	0.71159	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.122627	0.56097	D	0.000026	D	0.99802	0.9915	M	0.75615	2.305	0.27198	N	0.960232	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98691	1.0696	10	0.87932	D	0	-10.3851	13.0484	0.58939	0.0:0.0:0.0:1.0	.	112;112	P40337-2;P40337	.;VHL_HUMAN	D	112;112;30	ENSP00000256474:Y112D;ENSP00000344757:Y112D	ENSP00000256474:Y112D	Y	+	1	0	VHL	10158865	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.955000	0.63638	1.965000	0.57142	0.393000	0.25936	TAC		0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183865	T	G	10183865	3	3	352	1	0	0	0	0	1	0	0	0	17167	1522	53	5	336	5	VHL	3	10183865	Missense_Mutation	SNP	T	TCGA-BP-4763-01A-01W-1362-10		10183865	187838565	1	20054											
VHL	7428	hgsc.bcm.edu	37	3	10183734	10183734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4765-01A-01W-1362-10	TCGA-BP-4765-11A-01W-1363-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	460dfbb1-09ac-4532-aa75-29523009ce18	024b16d4-763e-42e6-ab9f-fdf43bf87a05	g.chr3:10183734C>A	ENST00000256474.2	+	1	1043	c.203C>A	c.(202-204)tCg>tAg	p.S68*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCGGTGAACTCGCGCGAGCCC	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Nonsense(15)|Deletion - Frameshift(3)|Complex - frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(24)	GRCh37	CM003058|CM971566	VHL	M							8	11	10					3																	10183734		2146	4213	6359	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.203C>A	3.37:g.10183734C>A	ENSP00000256474:p.Ser68*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088584	0.94100	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.45	4.53	0.55603	.	0.369470	0.28203	N	0.016215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8236	13.5532	0.61745	0.0:0.7597:0.2403:0.0	.	.	.	.	X	68	.	ENSP00000256474:S68X	S	+	2	0	VHL	10158734	0.146000	0.22672	0.981000	0.43875	0.672000	0.39443	0.351000	0.20096	2.567000	0.86603	0.550000	0.68814	TCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183734	C	A	10183734	4	1	353	1	0	0	0	0	0	1	0	0	17167	893	31	4	205	4	VHL	3	10183734	Nonsense_Mutation	SNP	C	TCGA-BP-4765-01A-01W-1362-10		10183734	187838696	1	20055											
NBPF3	84224	hgsc.bcm.edu	37	1	21806631	21806631	+	Silent	SNP	G	G	T	rs200384063		TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr1:21806631G>T	ENST00000318249.5	+	11	1646	c.1296G>T	c.(1294-1296)ctG>ctT	p.L432L	NBPF3_ENST00000454000.2_Silent_p.L362L|NBPF3_ENST00000318220.6_Silent_p.L376L|NBPF3_ENST00000342104.5_Silent_p.L420L	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	432	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTGAGTACCTGGAACTGCCTG	0.473																																																0													84	52	64					1																	21806631		2145	3610	5755	SO:0001819	synonymous_variant	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1296G>T	1.37:g.21806631G>T			A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	CCDS216.1																																																																																				0.473	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		T	21806631	G	T	21806631	2	4	354	1	0	0	0	0	0	0	0	1	10199	1335	47	4		4	NBPF3	1	21806631	Silent	SNP	G	TCGA-BP-4766-01A-01D-1366-10		21806631	227443990	1	20056			1	33		4	4	3079	N	T_G_C_A	1.389628e-08
NBPF3	84224	hgsc.bcm.edu	37	1	21806710	21806710	+	Missense_Mutation	SNP	T	T	A	rs12034222		TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr1:21806710T>A	ENST00000318249.5	+	11	1725	c.1375T>A	c.(1375-1377)Ttg>Atg	p.L459M	NBPF3_ENST00000454000.2_Missense_Mutation_p.L389M|NBPF3_ENST00000318220.6_Missense_Mutation_p.L403M|NBPF3_ENST00000342104.5_Missense_Mutation_p.L447M	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	459	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.		L -> V (in dbSNP:rs12034222). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTCTTGACTTGGACAGTGA	0.473																																																0													59	33	42					1																	21806710		2179	4004	6183	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1375T>A	1.37:g.21806710T>A	ENSP00000316782:p.Leu459Met		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	0.022	-1.412298	0.01145	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.01627	0.0052	N	0.00436	-1.5	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.33189	-0.9878	8	0.17832	T	0.49	.	.	.	.	.	447;459	Q9H094-3;Q9H094	.;NBPF3_HUMAN	M	389;403;459;447;403	ENSP00000415711:L389M;ENSP00000316739:L403M;ENSP00000316782:L459M;ENSP00000340336:L447M;ENSP00000391865:L403M	ENSP00000316739:L403M	L	+	1	2	NBPF3	21679297	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.156000	0.03160	-3.568000	0.00140	-3.751000	0.00022	TTG		0.473	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		A	21806710	T	A	21806710	3	1	354	1	0	0	0	0	1	0	0	0	10199	1606	56	5	1413	5	NBPF3	1	21806710	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10	79	21806710	227443911	2	20057			1	33		4	4	3079	N	T_G_C_A	1.389628e-08
NBPF3	84224	hgsc.bcm.edu	37	1	21808250	21808250	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr1:21808250C>G	ENST00000318249.5	+	13	1944	c.1594C>G	c.(1594-1596)Ctt>Gtt	p.L532V	NBPF3_ENST00000454000.2_Missense_Mutation_p.L462V|NBPF3_ENST00000318220.6_Missense_Mutation_p.L476V|NBPF3_ENST00000342104.5_Missense_Mutation_p.L520V	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	532	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCTTTTCTCTTGACGTGGA	0.458																																																0													41	28	33					1																	21808250		2176	4279	6455	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1594C>G	1.37:g.21808250C>G	ENSP00000316782:p.Leu532Val		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	2.544	-0.305587	0.05495	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	0.583	0.583	0.17417	DUF1220 (2);	.	.	.	.	T	0.24586	0.0596	M	0.63428	1.95	0.09310	N	1	P;P;B	0.49696	0.763;0.927;0.072	P;P;B	0.56563	0.507;0.801;0.055	T	0.08166	-1.0735	8	0.49607	T	0.09	.	.	.	.	.	462;520;532	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	V	462;476;532;520;476	ENSP00000415711:L462V;ENSP00000316739:L476V;ENSP00000316782:L532V;ENSP00000340336:L520V;ENSP00000391865:L476V	ENSP00000316739:L476V	L	+	1	0	NBPF3	21680837	0.008000	0.16893	0.003000	0.11579	0.003000	0.03518	1.005000	0.29834	0.579000	0.29504	0.398000	0.26397	CTT		0.458	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		G	21808250	C	G	21808250	3	3	354	1	0	0	0	0	1	0	0	0	10199	913	32	4	1640	4	NBPF3	1	21808250	Missense_Mutation	SNP	C	TCGA-BP-4766-01A-01D-1366-10	1540	21808250	227442371	3	20058			1	33		4	4	3079	N	T_G_C_A	1.389628e-08
NBPF3	84224	hgsc.bcm.edu	37	1	21809709	21809709	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr1:21809709A>C	ENST00000318249.5	+	15	2082	c.1732A>C	c.(1732-1734)Act>Cct	p.T578P	NBPF3_ENST00000454000.2_Missense_Mutation_p.T508P|NBPF3_ENST00000318220.6_Missense_Mutation_p.T522P|NBPF3_ENST00000342104.5_Missense_Mutation_p.T566P	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	578	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTATTCGACTACTTCAACTTA	0.453																																																0													69	49	56					1																	21809709		2169	4214	6383	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1732A>C	1.37:g.21809709A>C	ENSP00000316782:p.Thr578Pro		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-4.188991	0.00001	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	1.03	-2.07	0.07276	DUF1220 (2);	.	.	.	.	T	0.00695	0.0023	N	0.00041	-2.485	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.30090	-0.9990	9	0.02654	T	1	.	1.4336	0.02339	0.181:0.3038:0.356:0.1592	.	508;566;578	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	P	508;522;578;566;522	ENSP00000415711:T508P;ENSP00000316739:T522P;ENSP00000316782:T578P;ENSP00000340336:T566P;ENSP00000391865:T522P	ENSP00000316739:T522P	T	+	1	0	NBPF3	21682296	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.360000	0.00246	-3.832000	0.00101	-3.169000	0.00057	ACT		0.453	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		C	21809709	A	C	21809709	3	2	354	1	0	0	0	0	1	0	0	0	10199	391	14	5	1786	5	NBPF3	1	21809709	Missense_Mutation	SNP	A	TCGA-BP-4766-01A-01D-1366-10	1459	21809709	227440912	4	20059			1	33		4	4	3079	N	T_G_C_A	1.389628e-08
MTF1	4520	hgsc.bcm.edu;ucsc.edu	37	1	38300849	38300849	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr1:38300849T>C	ENST00000373036.4	-	6	1032	c.892A>G	c.(892-894)Aaa>Gaa	p.K298E		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	298					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGAATGTTTTCTCACAGCCA	0.383																																																0													251	219	230					1																	38300849		2203	4300	6503	SO:0001583	missense	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.892A>G	1.37:g.38300849T>C	ENSP00000362127:p.Lys298Glu		B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241773	0.79912	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.27104	1.69	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048684	0.85682	D	0.000000	T	0.31009	0.0783	M	0.69185	2.1	0.53688	D	0.999978	P	0.39717	0.684	B	0.38378	0.272	T	0.19418	-1.0306	10	0.72032	D	0.01	.	14.7119	0.69238	0.0:0.0:0.0:1.0	.	298	Q14872	MTF1_HUMAN	E	298;166	ENSP00000362127:K298E	ENSP00000362127:K298E	K	-	1	0	MTF1	38073436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.883000	0.87264	1.878000	0.54408	0.528000	0.53228	AAA		0.383	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		C	38300849	T	C	38300849	3	2	354	1	0	0	0	0	1	0	0	0	9924	1792	62	3	1393	3	MTF1	1	38300849	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10	16491140	38300849	210949772	5	20060											
LRRC7	57554	hgsc.bcm.edu;ucsc.edu	37	1	70555438	70555438	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr1:70555438G>A	ENST00000035383.5	+	23	4397	c.4367G>A	c.(4366-4368)gGc>gAc	p.G1456D	LRRC7_ENST00000415775.2_Missense_Mutation_p.G740D|LRRC7_ENST00000310961.5_Missense_Mutation_p.G1414D	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1456	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGAATCCTGGCCTTGGATTT	0.294																																																0													96	99	98					1																	70555438		2202	4299	6501	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4367G>A	1.37:g.70555438G>A	ENSP00000035383:p.Gly1456Asp		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328816	0.81690	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.30981	1.51;1.51;1.51	5.48	5.48	0.80851	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.97110	0.959;0.999;1.0	T	0.23868	-1.0176	10	0.44086	T	0.13	.	17.9073	0.88923	0.0:0.0:1.0:0.0	.	740;1409;1456	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	D	1414;1456;740;1232	ENSP00000309245:G1414D;ENSP00000035383:G1456D;ENSP00000394867:G740D	ENSP00000035383:G1456D	G	+	2	0	LRRC7	70328026	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.075000	0.94004	2.569000	0.86673	0.591000	0.81541	GGC		0.294	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		A	70555438	G	A	70555438	3	1	354	1	0	0	0	0	1	0	0	0	9022	1203	42	2	4457	2	LRRC7	1	70555438	Missense_Mutation	SNP	G	TCGA-BP-4766-01A-01D-1366-10	32254589	70555438	178695183	6	20061											
NBPF14	25832	hgsc.bcm.edu	37	1	148004722	148004722	+	Silent	SNP	C	C	T	rs138813155	byFrequency	TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr1:148004722C>T	ENST00000369219.1	-	22	2608	c.2592G>A	c.(2590-2592)tcG>tcA	p.S864S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	864	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TTGACGGAGTCGAATAACATA	0.448													-|||	5	0.000998403	0.0015	0.0	5008	,	,		24446	0.0		0.0	False		,,,				2504	0.0031															0								C		26,4174		7,12,2081	125	194	171		2592	0.4	0	1	dbSNP_134	171	0,8502		0,0,4251	no	coding-synonymous	NBPF14	NM_015383.1		7,12,6332	TT,TC,CC		0.0,0.619,0.2047		864/922	148004722	26,12676	2100	4251	6351	SO:0001819	synonymous_variant	25832			AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2592G>A	1.37:g.148004722C>T			Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	c	1.455	-0.563923	0.03939	0.00619	0.0	ENSG00000122497	ENST00000310701	.	.	.	0.445	0.445	0.16597	.	.	.	.	.	T	0.14874	0.0359	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26395	-1.0104	3	.	.	.	.	.	.	.	.	.	.	.	Q	870	.	.	R	-	2	0	NBPF14	146471346	0.128000	0.22383	0.004000	0.12327	0.009000	0.06853	-1.487000	0.02310	0.537000	0.28751	0.372000	0.22366	CGA		0.448	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		T	148004722	C	T	148004722	2	4	354	1	0	0	0	0	0	0	0	1	10196	871	31	1		1	NBPF14	1	148004722	Silent	SNP	C	TCGA-BP-4766-01A-01D-1366-10	77449284	148004722	101245899	7	20062											
USH2A	7399	hgsc.bcm.edu;ucsc.edu	37	1	216373233	216373233	+	Missense_Mutation	SNP	T	T	C	rs397518013		TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr1:216373233T>C	ENST00000307340.3	-	17	3933	c.3547A>G	c.(3547-3549)Att>Gtt	p.I1183V	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.I1183V|USH2A_ENST00000366943.2_Missense_Mutation_p.I1183V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1183	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGGACAAAATATATTTCTCT	0.438										HNSCC(13;0.011)																																						0													103	109	107					1																	216373233		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3547A>G	1.37:g.216373233T>C	ENSP00000305941:p.Ile1183Val		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	1.670	-0.509175	0.04231	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.56444	0.46;0.46;0.46	6.02	1.07	0.20283	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.151199	0.30210	N	0.010155	T	0.29223	0.0727	N	0.14661	0.345	0.21527	N	0.999654	B;B	0.11235	0.004;0.002	B;B	0.14023	0.01;0.008	T	0.11991	-1.0565	10	0.38643	T	0.18	.	5.4764	0.16697	0.0:0.1982:0.2542:0.5476	.	1183;1183	O75445-2;O75445	.;USH2A_HUMAN	V	1183	ENSP00000305941:I1183V;ENSP00000355910:I1183V;ENSP00000355909:I1183V	ENSP00000305941:I1183V	I	-	1	0	USH2A	214439856	0.528000	0.26314	0.096000	0.21009	0.878000	0.50629	0.184000	0.16939	0.144000	0.18951	0.533000	0.62120	ATT		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		C	216373233	T	C	216373233	3	2	354	1	0	0	0	0	1	0	0	0	17041	1406	49	3	12299	3	USH2A	1	216373233	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10	68368511	216373233	32877388	8	20063											
GPR45	11250	hgsc.bcm.edu;ucsc.edu	37	2	105859154	105859154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr2:105859154G>A	ENST00000258456.1	+	1	955	c.839G>A	c.(838-840)tGg>tAg	p.W280*		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCCTCTGCTGGCTGCCCCAC	0.607																																																0													187	179	182					2																	105859154		2203	4300	6503	SO:0001587	stop_gained	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.839G>A	2.37:g.105859154G>A	ENSP00000258456:p.Trp280*		Q6NWS4|Q6NXU6	Nonsense_Mutation	SNP	ENST00000258456.1	37	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	37	6.113469	0.97296	.	.	ENSG00000135973	ENST00000258456	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.5508	17.1015	0.86651	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000258456:W280X	W	+	2	0	GPR45	105225586	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.522000	0.60539	2.365000	0.80145	0.462000	0.41574	TGG		0.607	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		A	105859154	G	A	105859154	4	1	354	1	0	0	0	0	0	1	0	0	6698	1357	47	2	841	2	GPR45	2	105859154	Nonsense_Mutation	SNP	G	TCGA-BP-4766-01A-01D-1366-10		105859154	137340219	9	20064											
RIF1	55183	hgsc.bcm.edu	37	2	152319431	152319431	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr2:152319431C>A	ENST00000243326.5	+	29	3880	c.3397C>A	c.(3397-3399)Caa>Aaa	p.Q1133K	RIF1_ENST00000430328.2_Missense_Mutation_p.Q1133K|RIF1_ENST00000428287.2_Missense_Mutation_p.Q1133K|RIF1_ENST00000453091.2_Missense_Mutation_p.Q1133K|RIF1_ENST00000444746.2_Missense_Mutation_p.Q1133K			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGTCATTCCTCAAGATGTCAC	0.398																																																0													64	58	60					2																	152319431		2203	4300	6503	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3397C>A	2.37:g.152319431C>A	ENSP00000243326:p.Gln1133Lys		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	6.070	0.381256	0.11466	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.09911	2.94;2.93;2.93;2.94;2.93	3.92	1.91	0.25777	.	0.761160	0.12675	N	0.448474	T	0.07773	0.0195	M	0.63428	1.95	0.09310	N	0.999998	P;P	0.39696	0.555;0.683	B;B	0.34385	0.138;0.181	T	0.16364	-1.0405	10	0.07644	T	0.81	-3.8268	2.5576	0.04764	0.1712:0.454:0.2679:0.1069	.	1133;1133	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	K	1133	ENSP00000390181:Q1133K;ENSP00000414615:Q1133K;ENSP00000415691:Q1133K;ENSP00000243326:Q1133K;ENSP00000416123:Q1133K	ENSP00000243326:Q1133K	Q	+	1	0	RIF1	152027677	0.119000	0.22226	0.518000	0.27811	0.102000	0.19082	1.438000	0.35002	0.981000	0.38548	0.467000	0.42956	CAA		0.398	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			A	152319431	C	A	152319431	3	1	354	1	0	0	0	0	1	0	0	0	13365	827	29	4	3511	4	RIF1	2	152319431	Missense_Mutation	SNP	C	TCGA-BP-4766-01A-01D-1366-10	46460277	152319431	90879942	10	20065											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179405009	179405009	+	Silent	SNP	T	T	A			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr2:179405009T>A	ENST00000591111.1	-	301	93185	c.92961A>T	c.(92959-92961)ggA>ggT	p.G30987G	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.G23563G|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.G23755G|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.G30060G|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Silent_p.G32628G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Silent_p.G23688G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30987	Fibronectin type-III 126. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTAGATCCTCCTTCATCTT	0.438																																																0													273	263	266					2																	179405009		1945	4149	6094	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92961A>T	2.37:g.179405009T>A			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179405009	T	A	179405009	2	1	354	1	0	0	0	0	0	0	0	1	16740	1538	54	5		5	TTN	2	179405009	Silent	SNP	T	TCGA-BP-4766-01A-01D-1366-10	27085578	179405009	63794364	11	20066											
BARD1	580	hgsc.bcm.edu;ucsc.edu	37	2	215595187	215595187	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr2:215595187T>G	ENST00000260947.4	-	10	2083	c.1949A>C	c.(1948-1950)aAg>aCg	p.K650T	BARD1_ENST00000449967.2_Missense_Mutation_p.K506T|BARD1_ENST00000432456.1_Missense_Mutation_p.K21T	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	650	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AATTTCATACTTTTCTTCCTG	0.353									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																							0													121	121	121					2																	215595187		2203	4300	6503	SO:0001583	missense	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1949A>C	2.37:g.215595187T>G	ENSP00000260947:p.Lys650Thr		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.282817	0.23392	.	.	ENSG00000138376	ENST00000260947;ENST00000432456;ENST00000449967;ENST00000421162	T;T;T;T	0.58210	0.35;1.89;0.35;0.35	5.77	0.266	0.15617	BRCT (2);	0.299003	0.36409	N	0.002615	T	0.36248	0.0960	L	0.47716	1.5	0.28778	N	0.899993	B;B	0.29862	0.032;0.259	B;B	0.21546	0.013;0.035	T	0.17410	-1.0370	10	0.42905	T	0.14	-3.9076	5.012	0.14317	0.1111:0.0674:0.4418:0.3797	.	506;650	E7EUI3;Q99728	.;BARD1_HUMAN	T	650;21;506;199	ENSP00000260947:K650T;ENSP00000405020:K21T;ENSP00000406752:K506T;ENSP00000392245:K199T	ENSP00000260947:K650T	K	-	2	0	BARD1	215303432	0.993000	0.37304	0.934000	0.37439	0.956000	0.61745	2.290000	0.43531	0.095000	0.17434	-0.321000	0.08615	AAG		0.353	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		G	215595187	T	G	215595187	3	3	354	1	0	0	0	0	1	0	0	0	1312	1609	56	5	392	5	BARD1	2	215595187	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10	36190178	215595187	27604186	12	20067											
ADD1	118	hgsc.bcm.edu	37	4	2900254	2900254	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr4:2900254T>C	ENST00000398129.1	+	7	1000	c.980T>C	c.(979-981)aTc>aCc	p.I327T	ADD1_ENST00000503455.2_Missense_Mutation_p.I327T|ADD1_ENST00000446856.1_Missense_Mutation_p.I327T|ADD1_ENST00000513328.2_Missense_Mutation_p.I327T|ADD1_ENST00000398125.1_Missense_Mutation_p.I327T|ADD1_ENST00000355842.3_Missense_Mutation_p.I327T|ADD1_ENST00000398123.2_Missense_Mutation_p.I327T|ADD1_ENST00000264758.7_Missense_Mutation_p.I327T			P35611	ADDA_HUMAN	adducin 1 (alpha)	327					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCCTGTGAGATCCAGGTAGGG	0.468																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											0													116	106	109					4																	2900254		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.980T>C	4.37:g.2900254T>C	ENSP00000381197:p.Ile327Thr		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	CCDS43205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.1|20.1	3.937711|3.937711	0.73557|0.73557	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129|ENST00000514940	T;T;T;T;T;T;T;T|.	0.25414|.	1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Class II aldolase/adducin, N-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48822|0.48822	0.1521|0.1521	N|N	0.16016|0.16016	0.355|0.355	0.80722|0.80722	D|D	1|1	P;P;P;D;P;B;D;B|.	0.67145|.	0.859;0.859;0.859;0.996;0.859;0.324;0.996;0.374|.	P;P;P;D;P;B;D;B|.	0.87578|.	0.585;0.759;0.585;0.998;0.585;0.076;0.99;0.124|.	T|T	0.46289|0.46289	-0.9202|-0.9202	10|5	0.18710|.	T|.	0.47|.	-29.1602|-29.1602	15.8933|15.8933	0.79318|0.79318	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	327;327;327;327;327;327;327;327|.	E7ENY0;E7EV99;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8|.	.;.;.;.;ADDA_HUMAN;.;.;.|.	T|P	327|33	ENSP00000264758:I327T;ENSP00000399828:I327T;ENSP00000381193:I327T;ENSP00000421907:I327T;ENSP00000423024:I327T;ENSP00000348100:I327T;ENSP00000381191:I327T;ENSP00000381197:I327T|.	ENSP00000264758:I327T|.	I|S	+|+	2|1	0|0	ADD1|ADD1	2870052|2870052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	7.951000|7.951000	0.87819|0.87819	2.158000|2.158000	0.67659|0.67659	0.533000|0.533000	0.62120|0.62120	ATC|TCC		0.468	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		C	2900254	T	C	2900254	3	2	354	1	0	0	0	0	1	0	0	0	304	1435	50	3	1006	3	ADD1	4	2900254	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10		2900254	188254022	13	20068											
DCHS2	54798	hgsc.bcm.edu	37	4	155410650	155410650	+	Missense_Mutation	SNP	T	T	C	rs72731014	byFrequency	TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr4:155410650T>C	ENST00000339452.1	-	1	2218	c.1858A>G	c.(1858-1860)Act>Gct	p.T620A	DCHS2_ENST00000456341.2_Missense_Mutation_p.T613A|DCHS2_ENST00000443500.1_Missense_Mutation_p.T620A	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1747	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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGGTCTAGAGTCCGGATAGTG	0.592													T|||	866	0.172923	0.0386	0.3084	5008	,	,		18744	0.1558		0.2137	False		,,,				2504	0.2342															0								T	ALA/THR,ALA/THR	77,1307		6,65,621	46	48	48		1858,1858	0.7	0.1	4	dbSNP_130	48	550,2632		56,438,1097	yes	missense,missense	DCHS2	NM_001142552.1,NM_001142553.1	58,58	62,503,1718	CC,CT,TT		17.2847,5.5636,13.7319	,	620/1370,620/710	155410650	627,3939	692	1591	2283	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1858A>G	4.37:g.155410650T>C	ENSP00000345062:p.Thr620Ala		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000339452.1	37	CCDS47150.1	359	0.16437728937728938	17	0.034552845528455285	96	0.26519337016574585	81	0.14160839160839161	165	0.21767810026385223	T	1.685	-0.505419	0.04261	0.055636	0.172847	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.49432	0.78;0.78;0.78	5.17	0.658	0.17855	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	T	0.30238	-0.9985	7	0.07644	T	0.81	.	0.3221	0.00305	0.2522:0.2199:0.1358:0.3921	.	620;620	E9PG03;E9PC11	.;.	A	620;620;613;620	ENSP00000345062:T620A;ENSP00000408543:T613A;ENSP00000395539:T620A	ENSP00000345062:T620A	T	-	1	0	DCHS2	155630100	0.000000	0.05858	0.103000	0.21229	0.887000	0.51463	-0.488000	0.06497	0.308000	0.22923	0.455000	0.32223	ACT		0.592	DCHS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000365282.1	NM_001142552		C	155410650	T	C	155410650	3	2	354	1	0	0	0	0	1	0	0	0	4290	1667	58	3	9226	3	DCHS2	4	155410650	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10	152510396	155410650	35743626	14	20069											
MTRR	4552	hgsc.bcm.edu;ucsc.edu	37	5	7897260	7897260	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr5:7897260G>T	ENST00000264668.2	+	14	1963	c.1933G>T	c.(1933-1935)Gag>Tag	p.E645*	MTRR_ENST00000440940.2_Nonsense_Mutation_p.E618*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	645					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TGTTGGGGAGGAGGAAGCCCC	0.453																																																0													88	87	87					5																	7897260		2203	4300	6503	SO:0001587	stop_gained	4552			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1933G>T	5.37:g.7897260G>T	ENSP00000264668:p.Glu645*		O60471|Q32MA9|Q7Z4M8	Nonsense_Mutation	SNP	ENST00000264668.2	37	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588505	0.96590	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	.	.	.	5.4	5.4	0.78164	.	0.348339	0.33610	N	0.004722	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-12.6306	14.253	0.66033	0.0:0.1502:0.8498:0.0	.	.	.	.	X	645;618	.	ENSP00000264668:E645X	E	+	1	0	MTRR	7950260	0.936000	0.31750	0.021000	0.16686	0.640000	0.38277	2.254000	0.43214	2.508000	0.84585	0.655000	0.94253	GAG		0.453	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			T	7897260	G	T	7897260	4	4	354	1	0	0	0	0	0	1	0	0	9963	1175	41	4	1987	4	MTRR	5	7897260	Nonsense_Mutation	SNP	G	TCGA-BP-4766-01A-01D-1366-10		7897260	173018000	15	20070											
ESM1	11082	hgsc.bcm.edu;ucsc.edu	37	5	54277855	54277855	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr5:54277855T>G	ENST00000381405.4	-	2	566	c.421A>C	c.(421-423)Aag>Cag	p.K141Q	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	141					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTGGAAGACTTGGTTACTGAA	0.438																																																0													128	123	125					5																	54277855		2203	4300	6503	SO:0001583	missense	11082			X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.421A>C	5.37:g.54277855T>G	ENSP00000370812:p.Lys141Gln		B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157137	0.38119	.	.	ENSG00000164283	ENST00000381405	.	.	.	5.9	0.745	0.18359	.	0.449748	0.23704	N	0.045382	T	0.27027	0.0662	L	0.32530	0.975	0.09310	N	0.999993	B	0.28713	0.22	B	0.27500	0.08	T	0.16512	-1.0400	9	0.52906	T	0.07	-11.6222	6.452	0.21908	0.0:0.1865:0.1214:0.6921	.	141	Q9NQ30	ESM1_HUMAN	Q	141	.	ENSP00000370812:K141Q	K	-	1	0	ESM1	54313612	0.993000	0.37304	0.024000	0.17045	0.609000	0.37215	2.204000	0.42761	0.502000	0.28037	-0.468000	0.05107	AAG		0.438	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		G	54277855	T	G	54277855	3	3	354	1	0	0	0	0	1	0	0	0	5254	1821	63	5	141	5	ESM1	5	54277855	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10	46380595	54277855	126637405	16	20071											
DMGDH	29958	hgsc.bcm.edu;ucsc.edu	37	5	78322310	78322310	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr5:78322310A>T	ENST00000255189.3	-	13	2155	c.2127T>A	c.(2125-2127)aaT>aaA	p.N709K	DMGDH_ENST00000380311.4_Missense_Mutation_p.N508K|DMGDH_ENST00000540686.1_Missense_Mutation_p.N329K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	709					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGGTTCCAAAATTGTCGATTC	0.463																																																0													119	107	111					5																	78322310		2203	4300	6503	SO:0001583	missense	29958			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2127T>A	5.37:g.78322310A>T	ENSP00000255189:p.Asn709Lys		B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221163	0.58560	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.32	-1.49	0.08718	Glycine cleavage T-protein, N-terminal (1);	0.181260	0.56097	D	0.000021	T	0.80613	0.4656	M	0.80183	2.485	0.42403	D	0.99257	D;P;P;P	0.53745	0.962;0.735;0.704;0.539	P;B;B;P	0.57425	0.82;0.444;0.361;0.493	T	0.78196	-0.2298	10	0.31617	T	0.26	.	12.6753	0.56891	0.3922:0.0:0.6078:0.0	.	329;508;559;709	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	K	709;548;508;329;559	ENSP00000255189:N709K;ENSP00000430972:N548K;ENSP00000369667:N508K;ENSP00000439478:N329K	ENSP00000255189:N709K	N	-	3	2	DMGDH	78358066	0.997000	0.39634	0.966000	0.40874	0.965000	0.64279	0.399000	0.20916	-0.507000	0.06549	0.459000	0.35465	AAT		0.463	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		T	78322310	A	T	78322310	3	4	354	1	0	0	0	0	1	0	0	0	4583	98	4	5	489	5	DMGDH	5	78322310	Missense_Mutation	SNP	A	TCGA-BP-4766-01A-01D-1366-10	24044455	78322310	102592950	17	20072											
WRNIP1	56897	hgsc.bcm.edu;ucsc.edu	37	6	2768965	2768965	+	Missense_Mutation	SNP	A	A	G	rs77289107	byFrequency	TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr6:2768965A>G	ENST00000380773.4	+	2	1072	c.863A>G	c.(862-864)cAt>cGt	p.H288R	WRNIP1_ENST00000380771.4_Missense_Mutation_p.H288R|WRNIP1_ENST00000380769.4_Missense_Mutation_p.H68R|WRNIP1_ENST00000380764.1_5'Flank	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGCAAGAAACATAGCATAAGG	0.403													A|||	18	0.00359425	0.0015	0.0058	5008	,	,		20596	0.0		0.0119	False		,,,				2504	0.0															0								A	ARG/HIS,ARG/HIS	6,4400	11.4+/-27.6	0,6,2197	91	84	86		863,863	5.4	1	6	dbSNP_131	86	62,8538	39.3+/-95.6	0,62,4238	yes	missense,missense	WRNIP1	NM_020135.2,NM_130395.1	29,29	0,68,6435	GG,GA,AA		0.7209,0.1362,0.5228	benign,benign	288/666,288/641	2768965	68,12938	2203	4300	6503	SO:0001583	missense	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.863A>G	6.37:g.2768965A>G	ENSP00000370150:p.His288Arg			Missense_Mutation	SNP	ENST00000380773.4	37	CCDS4475.1	14	0.00641025641025641	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	10	0.013192612137203167	A	10.90	1.481103	0.26598	0.001362	0.007209	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769	T;T;T	0.41065	1.01;1.01;1.01	5.37	5.37	0.77165	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.249208	0.45606	D	0.000358	T	0.12092	0.0294	N	0.04655	-0.195	0.80722	D	1	B;B	0.28584	0.216;0.006	B;B	0.27170	0.077;0.005	T	0.08722	-1.0708	10	0.38643	T	0.18	-21.7902	14.8437	0.70243	1.0:0.0:0.0:0.0	.	288;288	Q96S55-2;Q96S55	.;WRIP1_HUMAN	R	288;288;68	ENSP00000370150:H288R;ENSP00000370148:H288R;ENSP00000370146:H68R	ENSP00000370146:H68R	H	+	2	0	WRNIP1	2713964	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.270000	0.58896	2.155000	0.67459	0.459000	0.35465	CAT		0.403	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		G	2768965	A	G	2768965	3	3	354	1	0	0	0	0	1	0	0	0	17408	217	8	3	869	3	WRNIP1	6	2768965	Missense_Mutation	SNP	A	TCGA-BP-4766-01A-01D-1366-10		2768965	168346102	18	20073											
RREB1	6239	hgsc.bcm.edu;ucsc.edu	37	6	7189542	7189542	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr6:7189542G>T	ENST00000349384.6	+	6	726	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	RREB1_ENST00000379933.3_Missense_Mutation_p.G138W|RREB1_ENST00000334984.6_Missense_Mutation_p.G138W|RREB1_ENST00000379938.2_Missense_Mutation_p.G138W|Y_RNA_ENST00000364613.1_RNA	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	138					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TACCACCAATGGGAACATGCA	0.597																																																0													65	51	56					6																	7189542		2203	4299	6502	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.412G>T	6.37:g.7189542G>T	ENSP00000305560:p.Gly138Trp		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024633	0.93518	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000015	T	0.27027	0.0662	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.01102	-1.1451	10	0.72032	D	0.01	-52.896	19.7284	0.96174	0.0:0.0:1.0:0.0	.	138;138;138	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	W	138	ENSP00000369265:G138W;ENSP00000369270:G138W;ENSP00000420299:G138W;ENSP00000305560:G138W;ENSP00000335574:G138W;ENSP00000419511:G138W	ENSP00000335574:G138W	G	+	1	0	RREB1	7134541	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.162000	0.94745	2.668000	0.90789	0.591000	0.81541	GGG		0.597	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7189542	G	T	7189542	3	4	354	1	0	0	0	0	1	0	0	0	13685	1348	47	4	422	4	RREB1	6	7189542	Missense_Mutation	SNP	G	TCGA-BP-4766-01A-01D-1366-10	4420577	7189542	163925525	19	20074											
TRPV6	55503	hgsc.bcm.edu	37	7	142583152	142583152	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr7:142583152T>C	ENST00000359396.3	-	1	355	c.110A>G	c.(109-111)aAc>aGc	p.N37S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	37				N -> D (in Ref. 1; AAG41951). {ECO:0000305}.	calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGCAGCAGGTTCTGCTCATC	0.607																																																0													110	111	111					7																	142583152		2203	4300	6503	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.110A>G	7.37:g.142583152T>C	ENSP00000352358:p.Asn37Ser		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	T	1.828	-0.470636	0.04445	.	.	ENSG00000165125	ENST00000359396	T	0.51817	0.69	3.82	3.82	0.43975	.	0.538685	0.19780	N	0.106246	T	0.37265	0.0997	L	0.43152	1.355	0.22866	N	0.998639	B	0.13594	0.008	B	0.12837	0.008	T	0.17806	-1.0357	10	0.33141	T	0.24	-12.5826	9.1984	0.37242	0.0:0.0:0.0:1.0	.	37	Q9H1D0	TRPV6_HUMAN	S	37	ENSP00000352358:N37S	ENSP00000352358:N37S	N	-	2	0	TRPV6	142293274	1.000000	0.71417	0.810000	0.32431	0.061000	0.15899	2.218000	0.42889	1.753000	0.51906	0.403000	0.27427	AAC		0.607	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		C	142583152	T	C	142583152	3	2	354	1	0	0	0	0	1	0	0	0	16605	1725	60	3	2127	3	TRPV6	7	142583152	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10		142583152	16555511	20	20075											
SPATC1	375686	hgsc.bcm.edu	37	8	145086876	145086876	+	Missense_Mutation	SNP	T	T	C	rs60050811	byFrequency	TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr8:145086876T>C	ENST00000377470.3	+	1	295	c.193T>C	c.(193-195)Tcc>Ccc	p.S65P	SPATC1_ENST00000447830.2_Missense_Mutation_p.S65P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	65	Necessary for targeting centrosomes. {ECO:0000250}.			S -> P (in Ref. 1; BAD08232 and 4; AAH50390). {ECO:0000305}.		centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCAGGCCTTTCCTCACGCCA	0.592													.|||	717	0.143171	0.4342	0.0519	5008	,	,		19317	0.0218		0.0408	False		,,,				2504	0.045															0													44	45	45					8																	145086876		692	1591	2283	SO:0001583	missense	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.193T>C	8.37:g.145086876T>C	ENSP00000366690:p.Ser65Pro		B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	CCDS6413.2	281	0.12866300366300365	209	0.4247967479674797	27	0.07458563535911603	14	0.024475524475524476	31	0.040897097625329816	c	3.178	-0.168543	0.06461	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.47528	0.84;0.84	4.0	-8.0	0.01126	.	1.415030	0.05210	N	0.506626	T	0.00012	0.0000	N	0.20685	0.6	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.14615	-1.0466	9	0.22109	T	0.4	-1.1144	2.0347	0.03537	0.1505:0.3546:0.2444:0.2505	rs60050811	65;65	B4DWW9;Q76KD6	.;SPERI_HUMAN	P	65	ENSP00000366690:S65P;ENSP00000387613:S65P	ENSP00000366690:S65P	S	+	1	0	SPATC1	145158864	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.937000	0.00330	-3.513000	0.00149	-1.008000	0.02478	TCC		0.592	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		C	145086876	T	C	145086876	3	2	354	1	0	0	0	0	1	0	0	0	15022	1783	62	3	195	3	SPATC1	8	145086876	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10		145086876	1277146	21	20076											
ERMP1	79956	hgsc.bcm.edu;ucsc.edu	37	9	5801303	5801303	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr9:5801303C>T	ENST00000339450.5	-	11	2029	c.1940G>A	c.(1939-1941)aGc>aAc	p.S647N	ERMP1_ENST00000543230.1_Missense_Mutation_p.S225N|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	647						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TTTTTTTGTGCTCTTGGCAAG	0.338																																																0													136	142	140					9																	5801303		2203	4300	6503	SO:0001583	missense	79956			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"Felix-ina"	611156	"KIAA1815"	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1940G>A	9.37:g.5801303C>T	ENSP00000340427:p.Ser647Asn		B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633128	0.29068	.	.	ENSG00000099219	ENST00000339450;ENST00000543230	T;T	0.22945	1.93;1.93	5.62	4.53	0.55603	.	0.106181	0.85682	D	0.000000	T	0.16514	0.0397	N	0.24115	0.695	0.80722	D	1	B	0.19200	0.034	B	0.19391	0.025	T	0.06588	-1.0818	10	0.17832	T	0.49	-9.5938	11.9233	0.52803	0.0:0.8511:0.0:0.1489	.	647	Q7Z2K6	ERMP1_HUMAN	N	647;225	ENSP00000340427:S647N;ENSP00000439368:S225N	ENSP00000340427:S647N	S	-	2	0	ERMP1	5791303	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.148000	0.58085	2.666000	0.90696	0.650000	0.86243	AGC		0.338	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		T	5801303	C	T	5801303	3	4	354	1	0	0	0	0	1	0	0	0	5238	797	28	2	794	2	ERMP1	9	5801303	Missense_Mutation	SNP	C	TCGA-BP-4766-01A-01D-1366-10		5801303	135412128	22	20077											
AQP7	364	hgsc.bcm.edu	37	9	33387073	33387073	+	Silent	SNP	G	G	A	rs73645276		TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr9:33387073G>A	ENST00000539936.1	-	4	400	c.162C>T	c.(160-162)tcC>tcT	p.S54S	AQP7_ENST00000377425.4_5'UTR|AQP7_ENST00000537089.1_Intron|AQP7_ENST00000541274.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	54					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TATGGGCCACGGAACCAAGGC	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.0		0.0	False		,,,				2504	0.001															0																																										SO:0001819	synonymous_variant	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.162C>T	9.37:g.33387073G>A			Q08E94|Q5T5L9|Q8NHM3	Silent	SNP	ENST00000539936.1	37																																																																																					0.562	AQP7-203	KNOWN	basic	protein_coding	protein_coding		NM_001170		A	33387073	G	A	33387073	2	1	354	1	0	0	0	0	0	0	0	1	831	1103	39	1		1	AQP7	9	33387073	Silent	SNP	G	TCGA-BP-4766-01A-01D-1366-10	27585770	33387073	107826358	23	20078											
NPR2	4882	hgsc.bcm.edu	37	9	35794073	35794073	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr9:35794073G>C	ENST00000342694.2	+	2	1101	c.846G>C	c.(844-846)caG>caC	p.Q282H		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	282					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CCCGGgaacaggcccaggccc	0.562																																																0													35	38	37					9																	35794073		2203	4300	6503	SO:0001583	missense	4882			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.846G>C	9.37:g.35794073G>C	ENSP00000341083:p.Gln282His		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903433	0.52333	.	.	ENSG00000159899	ENST00000342694	D	0.82344	-1.6	4.11	2.22	0.28083	Extracellular ligand-binding receptor (1);	0.000000	0.38897	N	0.001524	T	0.66356	0.2781	N	0.14661	0.345	0.29846	N	0.828865	B;B	0.21225	0.053;0.002	B;B	0.24269	0.052;0.027	T	0.56463	-0.7975	10	0.25106	T	0.35	.	8.2393	0.31650	0.1835:0.0:0.8165:0.0	.	282;282	P20594-2;P20594	.;ANPRB_HUMAN	H	282	ENSP00000341083:Q282H	ENSP00000341083:Q282H	Q	+	3	2	NPR2	35784073	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.280000	0.33202	0.464000	0.27142	0.655000	0.94253	CAG		0.562	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			C	35794073	G	C	35794073	3	2	354	1	0	0	0	0	1	0	0	0	10597	991	35	4	852	4	NPR2	9	35794073	Missense_Mutation	SNP	G	TCGA-BP-4766-01A-01D-1366-10	2407000	35794073	105419358	24	20079											
C9orf64	84267	hgsc.bcm.edu;ucsc.edu	37	9	86570341	86570341	+	Silent	SNP	C	C	T			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr9:86570341C>T	ENST00000376344.3	-	2	768	c.552G>A	c.(550-552)ctG>ctA	p.L184L	C9orf64_ENST00000314700.1_Silent_p.L43L|C9orf64_ENST00000376340.2_Silent_p.L43L	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	184										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTTCAACCACCAGGTGCATTA	0.423																																																0													60	55	57					9																	86570341		2203	4300	6503	SO:0001819	synonymous_variant	84267			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.552G>A	9.37:g.86570341C>T			B2RPI6|Q8N2B1|Q9BT18	Silent	SNP	ENST00000376344.3	37	CCDS6666.2																																																																																				0.423	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		T	86570341	C	T	86570341	2	4	354	1	0	0	0	0	0	0	0	1	2491	581	21	2		2	C9orf64	9	86570341	Silent	SNP	C	TCGA-BP-4766-01A-01D-1366-10	50776268	86570341	54643090	25	20080											
PDCL	5082	hgsc.bcm.edu;ucsc.edu	37	9	125582825	125582825	+	Missense_Mutation	SNP	G	G	A	rs147830688	byFrequency	TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr9:125582825G>A	ENST00000259467.4	-	4	610	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	149					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						AGCTGCTGCCGCATCTCTTCC	0.468																																																0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	85	84	85		445	4.6	1	9	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDCL	NM_005388.4	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	149/302	125582825	2,13004	2203	4300	6503	SO:0001583	missense	5082			AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.445C>T	9.37:g.125582825G>A	ENSP00000259467:p.Arg149Trp		Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959654	0.74016	2.27E-4	1.16E-4	ENSG00000136940	ENST00000259467	T	0.50813	0.73	5.58	4.61	0.57282	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.049218	0.85682	D	0.000000	T	0.63129	0.2485	M	0.68593	2.085	0.54753	D	0.999984	D	0.89917	1.0	D	0.70716	0.97	T	0.64622	-0.6364	10	0.62326	D	0.03	-15.127	10.8087	0.46533	0.0:0.0:0.6325:0.3675	.	149	Q13371	PHLP_HUMAN	W	149	ENSP00000259467:R149W	ENSP00000259467:R149W	R	-	1	2	PDCL	124622646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.110000	0.50352	2.636000	0.89361	0.655000	0.94253	CGG		0.468	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		A	125582825	G	A	125582825	3	1	354	1	0	0	0	0	1	0	0	0	11628	1086	38	1	464	1	PDCL	9	125582825	Missense_Mutation	SNP	G	TCGA-BP-4766-01A-01D-1366-10	39012484	125582825	15630606	26	20081											
ARHGAP22	58504	hgsc.bcm.edu;ucsc.edu	37	10	49812835	49812835	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr10:49812835T>A	ENST00000249601.4	-	1	303	c.7A>T	c.(7-9)Agc>Tgc	p.S3C	ARHGAP22_ENST00000435790.2_Intron|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.S3C|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	3					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCTTTGGGCTCAGCATGTTC	0.612																																																0													125	96	106					10																	49812835		2203	4300	6503	SO:0001583	missense	58504			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.7A>T	10.37:g.49812835T>A	ENSP00000249601:p.Ser3Cys		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.237258	0.79800	.	.	ENSG00000128805	ENST00000249601;ENST00000417912	T;T	0.13196	2.64;2.61	4.65	4.65	0.58169	.	.	.	.	.	T	0.26159	0.0638	L	0.36672	1.1	0.32778	N	0.502926	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.22068	-1.0227	9	0.62326	D	0.03	.	10.7407	0.46152	0.0:0.0:0.0:1.0	.	3;3;3	A6NDI7;Q7Z5H3-2;Q7Z5H3	.;.;RHG22_HUMAN	C	3	ENSP00000249601:S3C;ENSP00000412461:S3C	ENSP00000249601:S3C	S	-	1	0	ARHGAP22	49482841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.219000	0.58561	1.869000	0.54173	0.533000	0.62120	AGC		0.612	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		A	49812835	T	A	49812835	3	1	354	1	0	0	0	0	1	0	0	0	872	1551	54	5	2129	5	ARHGAP22	10	49812835	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10		49812835	85721912	27	20082											
VCL	7414	hgsc.bcm.edu	37	10	75854046	75854046	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr10:75854046C>A	ENST00000211998.4	+	11	1464	c.1370C>A	c.(1369-1371)cCa>cAa	p.P457Q	VCL_ENST00000372755.3_Missense_Mutation_p.P457Q|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	457	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GGAGATTCTCCAGAGGCTCGA	0.512																																																0													36	41	39					10																	75854046		2203	4300	6503	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1370C>A	10.37:g.75854046C>A	ENSP00000211998:p.Pro457Gln		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078497	0.76528	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.62105	0.05;0.05;0.05	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.84326	2.69	0.80722	D	1	P;B;P	0.42456	0.673;0.129;0.78	B;B;B	0.43123	0.326;0.103;0.409	T	0.74581	-0.3618	10	0.62326	D	0.03	.	14.429	0.67236	0.1474:0.8526:0.0:0.0	.	384;457;457	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	Q	457;457;364;384;129	ENSP00000361841:P457Q;ENSP00000211998:P457Q;ENSP00000415489:P129Q	ENSP00000211998:P457Q	P	+	2	0	VCL	75524052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.621000	0.67743	2.630000	0.89119	0.650000	0.86243	CCA		0.512	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		A	75854046	C	A	75854046	3	1	354	1	0	0	0	0	1	0	0	0	17144	594	21	4	1412	4	VCL	10	75854046	Missense_Mutation	SNP	C	TCGA-BP-4766-01A-01D-1366-10	26041211	75854046	59680701	28	20083											
GRK5	2869	hgsc.bcm.edu;ucsc.edu	37	10	121190918	121190918	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr10:121190918G>A	ENST00000392870.2	+	8	946	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	GRK5_ENST00000369108.3_Missense_Mutation_p.R101Q	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGCCAGGTTCGGGCCACGGGT	0.597																																																0													64	57	59					10																	121190918		2203	4300	6503	SO:0001583	missense	2869			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.617G>A	10.37:g.121190918G>A	ENSP00000376609:p.Arg206Gln		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672722	0.88445	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.65364	-0.15;-0.15	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000052	T	0.80138	0.4568	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.81788	-0.0772	10	0.72032	D	0.01	-7.2677	19.3484	0.94374	0.0:0.0:1.0:0.0	.	206;206	B2R7K0;P34947	.;GRK5_HUMAN	Q	206;101;101	ENSP00000376609:R206Q;ENSP00000358104:R101Q	ENSP00000358104:R101Q	R	+	2	0	GRK5	121180908	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	9.827000	0.99397	2.570000	0.86706	0.655000	0.94253	CGG		0.597	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		A	121190918	G	A	121190918	3	1	354	1	0	0	0	0	1	0	0	0	6794	1116	39	1	647	1	GRK5	10	121190918	Missense_Mutation	SNP	G	TCGA-BP-4766-01A-01D-1366-10	45336872	121190918	14343829	29	20084											
STK32C	282974	hgsc.bcm.edu	37	10	134036270	134036270	+	Missense_Mutation	SNP	G	G	A	rs570752291		TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr10:134036270G>A	ENST00000368622.1	-	10	1156	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	STK32C_ENST00000368625.4_Missense_Mutation_p.R389C					serine/threonine kinase 32C									p.R376C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CAGTGCAGACGGCCTTTCTAC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		15701	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	breast(1)											53	52	53					10																	134036270		2201	4298	6499	SO:0001583	missense	282974			AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.775C>T	10.37:g.134036270G>A	ENSP00000357611:p.Arg259Cys			Missense_Mutation	SNP	ENST00000368622.1	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.188816	0.78789	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.25250	1.81;1.81;1.81	3.53	3.53	0.40419	Protein kinase-like domain (1);	0.000000	0.64402	U	0.000006	T	0.50582	0.1624	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.996;0.917;0.997	T	0.58340	-0.7653	10	0.62326	D	0.03	.	15.3065	0.73995	0.0:0.0:1.0:0.0	.	389;376;259	B7Z7J1;Q86UX6;Q86UX6-2	.;ST32C_HUMAN;.	C	259;376;389	ENSP00000357611:R259C;ENSP00000298630:R376C;ENSP00000357614:R389C	ENSP00000298630:R376C	R	-	1	0	STK32C	133886260	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.391000	0.66266	1.825000	0.53177	0.479000	0.44913	CGT		0.642	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		A	134036270	G	A	134036270	3	1	354	1	0	0	0	0	1	0	0	0	15304	1116	39	1	346	1	STK32C	10	134036270	Missense_Mutation	SNP	G	TCGA-BP-4766-01A-01D-1366-10	12845352	134036270	1498477	30	20085											
MTCH2	23788	hgsc.bcm.edu	37	11	47663986	47663986	+	Missense_Mutation	SNP	C	C	T	rs72909898		TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr11:47663986C>T	ENST00000302503.3	-	1	189	c.32G>A	c.(31-33)gGc>gAc	p.G11D	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	11					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GAGACCGGAGCCCAGGAGCAC	0.692																																																0													27	24	25					11																	47663986		2192	4283	6475	SO:0001583	missense	23788			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.32G>A	11.37:g.47663986C>T	ENSP00000303222:p.Gly11Asp		B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	CCDS7943.1	261	0.11950549450549451	90	0.18292682926829268	28	0.07734806629834254	52	0.09090909090909091	91	0.12005277044854881	c	33	5.245186	0.95272	.	.	ENSG00000109919	ENST00000302503;ENST00000530428	D;D	0.82711	-1.64;-1.64	4.21	4.21	0.49690	Mitochondrial carrier domain (1);	0.158380	0.56097	D	0.000031	T	0.00815	0.0027	M	0.83012	2.62	0.80722	D	1	B	0.33238	0.403	B	0.35899	0.213	T	0.34403	-0.9830	10	0.87932	D	0	-0.9377	15.9047	0.79419	0.0:1.0:0.0:0.0	.	11	Q9Y6C9	MTCH2_HUMAN	D	11	ENSP00000303222:G11D;ENSP00000432043:G11D	ENSP00000303222:G11D	G	-	2	0	MTCH2	47620562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.066000	0.57520	2.344000	0.79699	0.550000	0.68814	GGC		0.692	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		T	47663986	C	T	47663986	3	4	354	1	0	0	0	0	1	0	0	0	9916	739	26	2	931	2	MTCH2	11	47663986	Missense_Mutation	SNP	C	TCGA-BP-4766-01A-01D-1366-10		47663986	87342530	31	20086											
OR10G7	390265	hgsc.bcm.edu	37	11	123909234	123909234	+	Missense_Mutation	SNP	T	T	C	rs201972627	byFrequency	TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr11:123909234T>C	ENST00000330487.5	-	1	483	c.475A>G	c.(475-477)Acc>Gcc	p.T159A		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T159A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTCAATATGGTCTGGACAGCA	0.577													T|||	4	0.000798722	0.0	0.0	5008	,	,		20775	0.004		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)						T	ALA/THR	0,4400		0,0,2200	146	141	143		475	2.1	0.8	11		143	1,8589	1.2+/-3.3	0,1,4294	no	missense	OR10G7	NM_001004463.1	58	0,1,6494	CC,CT,TT		0.0116,0.0,0.0077	benign	159/312	123909234	1,12989	2200	4295	6495	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.475A>G	11.37:g.123909234T>C	ENSP00000329689:p.Thr159Ala		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	11	0.005036630036630037	0	0.0	3	0.008287292817679558	6	0.01048951048951049	2	0.002638522427440633	T	8.660	0.900292	0.17686	0.0	1.16E-4	ENSG00000182634	ENST00000330487	T	0.00256	8.42	3.24	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.139097	0.33075	N	0.005307	T	0.00144	0.0004	L	0.49126	1.545	0.30208	N	0.79798	B	0.19073	0.033	B	0.34385	0.181	T	0.03761	-1.1006	10	0.46703	T	0.11	.	7.9741	0.30145	0.0:0.1027:0.0:0.8973	.	159	Q8NGN6	O10G7_HUMAN	A	159	ENSP00000329689:T159A	ENSP00000329689:T159A	T	-	1	0	OR10G7	123414444	0.000000	0.05858	0.840000	0.33206	0.416000	0.31233	0.059000	0.14322	0.466000	0.27193	0.374000	0.22700	ACC		0.577	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		C	123909234	T	C	123909234	3	2	354	1	0	0	0	0	1	0	0	0	10904	1667	58	3	464	3	OR10G7	11	123909234	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10	76245248	123909234	11097282	32	20087											
PKNOX2	63876	hgsc.bcm.edu	37	11	125300008	125300008	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr11:125300008A>C	ENST00000298282.9	+	12	1434	c.1163A>C	c.(1162-1164)cAg>cCg	p.Q388P	PKNOX2_ENST00000542175.1_Missense_Mutation_p.Q324P|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	388					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CTGCAGCAGCAGGGCGGTGCC	0.622																																																0													46	51	49					11																	125300008		1930	4132	6062	SO:0001583	missense	63876			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1163A>C	11.37:g.125300008A>C	ENSP00000298282:p.Gln388Pro		B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374751	0.61735	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.89	4.82	4.82	0.62117	.	0.072062	0.56097	D	0.000033	T	0.80127	0.4566	N	0.24115	0.695	0.58432	D	0.999993	P;P;B	0.52316	0.952;0.596;0.396	P;B;B	0.47075	0.536;0.133;0.099	T	0.80688	-0.1271	10	0.38643	T	0.18	-8.998	14.6685	0.68926	1.0:0.0:0.0:0.0	.	324;359;388	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	P	359;359;388;324	ENSP00000434732:Q359P;ENSP00000433971:Q359P;ENSP00000298282:Q388P;ENSP00000441470:Q324P	ENSP00000298282:Q388P	Q	+	2	0	PKNOX2	124805218	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.289000	0.59013	1.943000	0.56356	0.379000	0.24179	CAG		0.622	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			C	125300008	A	C	125300008	3	2	354	1	0	0	0	0	1	0	0	0	11985	188	7	5	1197	5	PKNOX2	11	125300008	Missense_Mutation	SNP	A	TCGA-BP-4766-01A-01D-1366-10	1390774	125300008	9706508	33	20088											
EEA1	8411	hgsc.bcm.edu	37	12	93192687	93192687	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr12:93192687T>C	ENST00000322349.8	-	21	3212	c.2948A>G	c.(2947-2949)aAa>aGa	p.K983R		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	983	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AACAGCAATTTTAAGCTCTCC	0.308																																																0													117	112	114					12																	93192687		2202	4299	6501	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2948A>G	12.37:g.93192687T>C	ENSP00000317955:p.Lys983Arg		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469259	0.26423	.	.	ENSG00000102189	ENST00000322349	T	0.65549	-0.16	5.49	4.35	0.52113	.	0.104244	0.41712	N	0.000830	T	0.62804	0.2458	L	0.27053	0.805	0.19300	N	0.999971	D	0.69078	0.997	D	0.73380	0.98	T	0.52578	-0.8557	10	0.22706	T	0.39	.	8.7856	0.34818	0.0:0.0865:0.0:0.9135	.	983	Q15075	EEA1_HUMAN	R	983	ENSP00000317955:K983R	ENSP00000317955:K983R	K	-	2	0	EEA1	91716818	0.975000	0.34042	0.019000	0.16419	0.171000	0.22731	3.045000	0.49838	0.918000	0.36919	0.482000	0.46254	AAA		0.308	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		C	93192687	T	C	93192687	3	2	354	1	0	0	0	0	1	0	0	0	4923	1841	64	3	1323	3	EEA1	12	93192687	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10		93192687	40659208	34	20089											
PLEKHH1	57475	hgsc.bcm.edu;ucsc.edu	37	14	68045252	68045252	+	Splice_Site	SNP	G	G	T			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr14:68045252G>T	ENST00000329153.5	+	20	2885	c.2753G>T	c.(2752-2754)tGc>tTc	p.C918F	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	918	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCCTGGCAGTGCTGGCAGCTC	0.582																																																0													47	53	51					14																	68045252		2185	4288	6473	SO:0001630	splice_region_variant	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2752-1G>T	14.37:g.68045252G>T			A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732381	0.69189	.	.	ENSG00000054690	ENST00000329153	D	0.91631	-2.88	5.54	5.54	0.83059	MyTH4 domain (3);	0.092623	0.85682	D	0.000000	D	0.91676	0.7369	L	0.59436	1.845	0.80722	D	1	B	0.26902	0.163	B	0.31337	0.128	D	0.89231	0.3577	10	0.66056	D	0.02	.	19.2866	0.94077	0.0:0.0:1.0:0.0	.	918	Q9ULM0	PKHH1_HUMAN	F	918	ENSP00000330278:C918F	ENSP00000330278:C918F	C	+	2	0	PLEKHH1	67115005	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	7.307000	0.78920	2.884000	0.98904	0.655000	0.94253	TGC		0.582	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054	Missense_Mutation	T	68045252	G	T	68045252	5	4	354	1	0	0	0	0	0	0	1	0	12078	1333	46	4	2827	4	PLEKHH1	14	68045252	Splice_Site	SNP	G	TCGA-BP-4766-01A-01D-1366-10		68045252	39304288	35	20090											
ITGA11	22801	hgsc.bcm.edu;ucsc.edu	37	15	68661592	68661592	+	Silent	SNP	A	A	G			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr15:68661592A>G	ENST00000315757.7	-	3	281	c.195T>C	c.(193-195)aaT>aaC	p.N65N	ITGA11_ENST00000423218.2_Silent_p.N65N	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	65					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TCTGGTAGCCATTGGTTTCCA	0.562																																																0													109	110	109					15																	68661592		1996	4176	6172	SO:0001819	synonymous_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.195T>C	15.37:g.68661592A>G			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																				0.562	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		G	68661592	A	G	68661592	2	3	354	1	0	0	0	0	0	0	0	1	7876	214	8	3		3	ITGA11	15	68661592	Silent	SNP	A	TCGA-BP-4766-01A-01D-1366-10		68661592	33869800	36	20091											
GRIN2A	2903	hgsc.bcm.edu	37	16	9857305	9857305	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr16:9857305G>A	ENST00000396573.2	-	14	4405	c.4096C>T	c.(4096-4098)Cct>Tct	p.P1366S	GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1366S|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1366S|GRIN2A_ENST00000404927.2_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1366			P -> L (found in a cutaneous malignant melanoma sample; somatic mutation). {ECO:0000269|PubMed:21499247}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGAGGAAAGGGTTATCGGAG	0.547																																																0													77	72	73					16																	9857305		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4096C>T	16.37:g.9857305G>A	ENSP00000379818:p.Pro1366Ser		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517343	0.64634	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.52754	0.65;0.65;0.65	5.61	4.65	0.58169	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.047498	0.85682	N	0.000000	T	0.54759	0.1878	M	0.80746	2.51	0.80722	D	1	B	0.27700	0.186	B	0.35859	0.212	T	0.54964	-0.8214	9	.	.	.	.	14.0274	0.64594	0.0725:0.0:0.9275:0.0	.	1366	Q12879	NMDE1_HUMAN	S	1366	ENSP00000379818:P1366S;ENSP00000332549:P1366S;ENSP00000379820:P1366S	.	P	-	1	0	GRIN2A	9764806	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.302000	0.96175	1.503000	0.48686	0.655000	0.94253	CCT		0.547	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	9857305	G	A	9857305	3	1	354	1	0	0	0	0	1	0	0	0	6781	1232	43	2	302	2	GRIN2A	16	9857305	Missense_Mutation	SNP	G	TCGA-BP-4766-01A-01D-1366-10		9857305	80497448	37	20092											
DBNDD1	79007	hgsc.bcm.edu	37	16	90075259	90075259	+	Silent	SNP	C	C	T			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr16:90075259C>T	ENST00000002501.6	-	3	383	c.252G>A	c.(250-252)tcG>tcA	p.S84S	DBNDD1_ENST00000392973.3_Silent_p.S90S|DBNDD1_ENST00000304733.3_Silent_p.S104S|DBNDD1_ENST00000568838.1_Silent_p.S204S	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	84						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCTCCTGGTCCGACATGTCGG	0.642																																																0													35	40	39					16																	90075259		2031	4173	6204	SO:0001819	synonymous_variant	79007			AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.252G>A	16.37:g.90075259C>T			B4DQS3|Q69YT2|Q9BW25	Silent	SNP	ENST00000002501.6	37	CCDS42223.1																																																																																				0.642	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043		T	90075259	C	T	90075259	2	4	354	1	0	0	0	0	0	0	0	1	4255	639	23	1		1	DBNDD1	16	90075259	Silent	SNP	C	TCGA-BP-4766-01A-01D-1366-10	80217954	90075259	279494	38	20093											
PELP1	27043	hgsc.bcm.edu	37	17	4576620	4576620	+	Silent	SNP	C	C	T	rs55677157	byFrequency	TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr17:4576620C>T	ENST00000574876.1	-	15	1787	c.1770G>A	c.(1768-1770)ccG>ccA	p.P590P	PELP1_ENST00000269230.7_Intron|PELP1_ENST00000436683.2_Silent_p.P443P|PELP1_ENST00000301396.4_Silent_p.P734P|PELP1_ENST00000572293.1_Silent_p.P640P|AC091153.4_ENST00000441700.2_RNA			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	590					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGCGAGGAGACGGGGCCAGCA	0.652													C|||	425	0.0848642	0.0484	0.1282	5008	,	,		16334	0.003		0.2117	False		,,,				2504	0.0573															0								C		292,4018		12,268,1875	19	30	27		1770	-3.2	0.9	17	dbSNP_129	27	1899,6647		204,1491,2578	no	coding-synonymous	PELP1	NM_014389.2		216,1759,4453	TT,TC,CC		22.2209,6.7749,17.0426		590/1131	4576620	2191,10665	2155	4273	6428	SO:0001819	synonymous_variant	27043				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1770G>A	17.37:g.4576620C>T			O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	CCDS58503.1																																																																																				0.652	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		T	4576620	C	T	4576620	2	4	354	1	0	0	0	0	0	0	0	1	11727	523	19	1		1	PELP1	17	4576620	Silent	SNP	C	TCGA-BP-4766-01A-01D-1366-10		4576620	76618590	39	20094											
MLLT6	4302	hgsc.bcm.edu	37	17	36875827	36875827	+	Missense_Mutation	SNP	T	T	C	rs62620198	byFrequency	TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr17:36875827T>C	ENST00000325718.7	+	13	2091	c.2000T>C	c.(1999-2001)cTg>cCg	p.L667P	MIR4726_ENST00000577947.1_RNA|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	667					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGGAGAGTCTGTCTTCCATG	0.667			T	MLL	AL								T|||	7	0.00139776	0.0008	0.0	5008	,	,		14886	0.0		0.006	False		,,,				2504	0.0						Dom	yes		17	17q21	4302	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"		L	0								T	PRO/LEU	8,4394	11.4+/-27.6	0,8,2193	24	24	24		2000	4.7	1	17	dbSNP_129	24	92,8506	47.6+/-106.9	0,92,4207	yes	missense	MLLT6	NM_005937.3	98	0,100,6400	CC,CT,TT		1.07,0.1817,0.7692	probably-damaging	667/1094	36875827	100,12900	2201	4299	6500	SO:0001583	missense	4302				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.2000T>C	17.37:g.36875827T>C	ENSP00000316426:p.Leu667Pro		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	CCDS11327.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	T	22.9	4.354093	0.82243	0.001817	0.0107	ENSG00000108292	ENST00000325718	T	0.11169	2.8	4.73	4.73	0.59995	.	0.151343	0.39341	N	0.001385	T	0.16854	0.0405	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.995	T	0.00677	-1.1614	10	0.39692	T	0.17	.	13.3355	0.60515	0.0:0.0:0.0:1.0	rs62620198	121;667	Q96I32;P55198	.;AF17_HUMAN	P	667	ENSP00000316426:L667P	ENSP00000316426:L667P	L	+	2	0	MLLT6	34129353	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.116000	0.71571	1.895000	0.54865	0.418000	0.28097	CTG		0.667	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		C	36875827	T	C	36875827	3	2	354	1	0	0	0	0	1	0	0	0	9632	1580	55	3	2050	3	MLLT6	17	36875827	Missense_Mutation	SNP	T	TCGA-BP-4766-01A-01D-1366-10	32299207	36875827	44319383	40	20095											
CNTNAP1	8506	hgsc.bcm.edu	37	17	40839832	40839832	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr17:40839832G>T	ENST00000264638.4	+	8	1356	c.1139G>T	c.(1138-1140)cGt>cTt	p.R380L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	380					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.R380H(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTCCCACGCCGTGGCCGCCTG	0.637																																																1	Substitution - Missense(1)	breast(1)											91	84	87					17																	40839832		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1139G>T	17.37:g.40839832G>T	ENSP00000264638:p.Arg380Leu			Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875262	0.33162	.	.	ENSG00000108797	ENST00000264638	T	0.78595	-1.19	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.101216	0.42420	D	0.000708	T	0.65698	0.2716	L	0.40543	1.245	0.35176	D	0.772019	B	0.29232	0.238	B	0.26693	0.072	T	0.66352	-0.5945	10	0.10636	T	0.68	.	11.7866	0.52045	0.081:0.0:0.919:0.0	.	380	P78357	CNTP1_HUMAN	L	380	ENSP00000264638:R380L	ENSP00000264638:R380L	R	+	2	0	CNTNAP1	38093358	1.000000	0.71417	0.160000	0.22671	0.418000	0.31294	4.577000	0.60922	2.302000	0.77476	0.655000	0.94253	CGT		0.637	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		T	40839832	G	T	40839832	3	4	354	1	0	0	0	0	1	0	0	0	3648	1145	40	4	1169	4	CNTNAP1	17	40839832	Missense_Mutation	SNP	G	TCGA-BP-4766-01A-01D-1366-10	3964005	40839832	40355378	41	20096											
ILVBL	10994	hgsc.bcm.edu	37	19	15229993	15229993	+	Silent	SNP	A	A	G	rs1131177	byFrequency	TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chr19:15229993A>G	ENST00000263383.3	-	9	1174	c.1035T>C	c.(1033-1035)gaT>gaC	p.D345D	ILVBL_ENST00000534378.1_Silent_p.D238D|ILVBL_ENST00000531635.1_5'Flank	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	345						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGACAATGACATCCGCCTTCT	0.627													A|||	1129	0.225439	0.0265	0.2752	5008	,	,		17072	0.3323		0.1968	False		,,,				2504	0.3783															0								A		237,4169	138.8+/-174.5	6,225,1972	74	66	69		1035	-5.4	0.1	19	dbSNP_86	69	1716,6884	313.0+/-311.1	164,1388,2748	no	coding-synonymous	ILVBL	NM_006844.3		170,1613,4720	GG,GA,AA		19.9535,5.379,15.0161		345/633	15229993	1953,11053	2203	4300	6503	SO:0001819	synonymous_variant	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1035T>C	19.37:g.15229993A>G			O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	37	CCDS12325.1																																																																																				0.627	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		G	15229993	A	G	15229993	2	3	354	1	0	0	0	0	0	0	0	1	7717	214	8	3		3	ILVBL	19	15229993	Silent	SNP	A	TCGA-BP-4766-01A-01D-1366-10		15229993	43898990	42	20097											
TRO	7216	hgsc.bcm.edu	37	X	54957276	54957276	+	Silent	SNP	T	T	A			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chrX:54957276T>A	ENST00000173898.7	+	12	4231	c.4119T>A	c.(4117-4119)acT>acA	p.T1373T	TRO_ENST00000375041.2_Silent_p.T976T|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.T904T	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1373	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GACCAAGCACTGGTGTTGGCT	0.592																																																0													82	84	83					X																	54957276		2056	4174	6230	SO:0001819	synonymous_variant	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4119T>A	X.37:g.54957276T>A			B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	CCDS43959.1																																																																																				0.592	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		A	54957276	T	A	54957276	2	1	354	1	0	0	0	0	0	0	0	1	16579	1567	55	5		5	TRO	23	54957276	Silent	SNP	T	TCGA-BP-4766-01A-01D-1366-10		54957276	100313284	43	20098											
CXorf41	139212	hgsc.bcm.edu;ucsc.edu	37	X	106462183	106462183	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4766-01A-01D-1366-10	TCGA-BP-4766-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	246a22b2-db14-489d-9bd3-3a5e91a5c715	131b822f-4ad9-4645-bab7-665d8fd54a2c	g.chrX:106462183G>A	ENST00000372453.3	+	4	378	c.316G>A	c.(316-318)Gtt>Att	p.V106I	PIH1D3_ENST00000535523.1_Missense_Mutation_p.V106I|PIH1D3_ENST00000336387.4_Missense_Mutation_p.V106I	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	106																	TATGTGGGATGTTAGAGAAAT	0.373																																																0													81	78	79					X																	106462183		2203	4300	6503	SO:0001583	missense	0			AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"sarcoma antigen NY-SAR-97"		"chromosome X open reading frame 41"	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.316G>A	X.37:g.106462183G>A	ENSP00000361531:p.Val106Ile		D3DUX5|Q86WE1	Missense_Mutation	SNP	ENST00000372453.3	37	CCDS14528.1	.	.	.	.	.	.	.	.	.	.	g	3.404	-0.121664	0.06838	.	.	ENSG00000080572	ENST00000372453;ENST00000535523;ENST00000336387	.	.	.	5.79	1.89	0.25635	.	0.605495	0.17466	N	0.173271	T	0.31918	0.0812	L	0.51422	1.61	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.21177	-1.0253	9	0.36615	T	0.2	-8.5895	5.0996	0.14753	0.3035:0.2676:0.4288:0.0	.	106	Q9NQM4	CX041_HUMAN	I	106	.	ENSP00000337757:V106I	V	+	1	0	CXorf41	106348839	0.175000	0.23083	0.185000	0.23176	0.435000	0.31806	0.728000	0.26013	0.203000	0.20529	0.597000	0.82753	GTT		0.373	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057832.1	NM_173494		A	106462183	G	A	106462183	3	1	354	1	0	0	0	0	1	0	0	0	4112	1377	48	2	326	2	CXorf41	23	106462183	Missense_Mutation	SNP	G	TCGA-BP-4766-01A-01D-1366-10	51504907	106462183	48808377	44	20099											
NECAP2	55707	hgsc.bcm.edu;ucsc.edu	37	1	16775619	16775619	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr1:16775619C>G	ENST00000337132.5	+	5	502	c.412C>G	c.(412-414)Caa>Gaa	p.Q138E	NECAP2_ENST00000504551.2_Missense_Mutation_p.Q77E|NECAP2_ENST00000406746.1_Missense_Mutation_p.Q138E|NECAP2_ENST00000457722.2_Missense_Mutation_p.Q112E|NECAP2_ENST00000443980.2_Missense_Mutation_p.Q138E	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	138					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTGCAAAACAAGCCCAGAA	0.532																																																0													96	75	82					1																	16775619		2203	4300	6503	SO:0001583	missense	55707			AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.412C>G	1.37:g.16775619C>G	ENSP00000338746:p.Gln138Glu		B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	37	CCDS173.1	.	.	.	.	.	.	.	.	.	.	C	5.839	0.338952	0.11069	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000457722;ENST00000406746;ENST00000263498;ENST00000443980;ENST00000492095	T;T;T;T;T;T	0.41400	1.0;1.62;1.0;1.0;1.0;1.0	5.71	4.77	0.60923	.	0.050732	0.85682	D	0.000000	T	0.19725	0.0474	N	0.04508	-0.205	0.53688	D	0.999977	B;B;B	0.15930	0.012;0.014;0.015	B;B;B	0.19946	0.016;0.018;0.027	T	0.10177	-1.0641	10	0.02654	T	1	-12.6039	14.6258	0.68621	0.0:0.8544:0.1456:0.0	.	112;138;138	Q9NVZ3-4;Q9NVZ3-2;Q9NVZ3	.;.;NECP2_HUMAN	E	138;77;112;138;138;138;138	ENSP00000338746:Q138E;ENSP00000424509:Q77E;ENSP00000407091:Q112E;ENSP00000383925:Q138E;ENSP00000391942:Q138E;ENSP00000427620:Q138E	ENSP00000263498:Q138E	Q	+	1	0	NECAP2	16648206	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	1.592000	0.36676	2.691000	0.91804	0.563000	0.77884	CAA		0.532	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		G	16775619	C	G	16775619	3	3	355	1	0	0	0	0	1	0	0	0	10310	479	17	4	430	4	NECAP2	1	16775619	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10		16775619	232475002	1	20100											
COL11A1	1301	hgsc.bcm.edu;ucsc.edu	37	1	103354185	103354185	+	Splice_Site	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr1:103354185C>T	ENST00000370096.3	-	62	4868	c.4556G>A	c.(4555-4557)gGa>gAa	p.G1519E	COL11A1_ENST00000353414.4_Splice_Site_p.G1480E|COL11A1_ENST00000358392.2_Splice_Site_p.G1531E|COL11A1_ENST00000512756.1_Splice_Site_p.G1403E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1519	Collagen-like 8.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGCGGGTCCCTGTTAGAA	0.413																																																0													68	70	69					1																	103354185		2203	4300	6503	SO:0001630	splice_region_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4555-1G>A	1.37:g.103354185C>T			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977220	0.74360	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28	5.67	5.67	0.87782	.	0.053328	0.85682	D	0.000000	D	0.99846	0.9929	H	0.97440	4.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.998	D	0.96852	0.9626	10	0.87932	D	0	.	19.7775	0.96400	0.0:1.0:0.0:0.0	.	1403;1480;1531;1519;739	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	E	1519;1531;1480;739;1403	ENSP00000359114:G1519E;ENSP00000351163:G1531E;ENSP00000302551:G1480E;ENSP00000426533:G1403E	ENSP00000302551:G1480E	G	-	2	0	COL11A1	103126773	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.487000	0.81328	2.680000	0.91292	0.655000	0.94253	GGA		0.413	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	T	103354185	C	T	103354185	5	4	355	1	0	0	0	0	0	0	1	0	3669	869	30	2	888	2	COL11A1	1	103354185	Splice_Site	SNP	C	TCGA-BP-4768-01A-01D-1366-10	86578566	103354185	145896436	2	20101											
LAX1	54900	hgsc.bcm.edu;ucsc.edu	37	1	203741246	203741246	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr1:203741246T>C	ENST00000442561.2	+	4	751	c.361T>C	c.(361-363)Tcc>Ccc	p.S121P	LAX1_ENST00000367217.5_Missense_Mutation_p.S105P|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	121					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGCCTCCTCTCCAGAAATTC	0.493																																																0													117	111	113					1																	203741246		2203	4300	6503	SO:0001583	missense	54900			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"LAT-like membrane associated protein", "linker for activation of x cells"					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.361T>C	1.37:g.203741246T>C	ENSP00000406970:p.Ser121Pro		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	T	17.05	3.291185	0.59976	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.16	4.02	0.46733	.	0.102880	0.44097	D	0.000486	T	0.42698	0.1214	L	0.47716	1.5	0.32798	N	0.500265	P;P	0.45634	0.863;0.863	P;P	0.44647	0.456;0.456	T	0.59878	-0.7371	9	0.87932	D	0	-18.851	7.9927	0.30250	0.0:0.0972:0.0:0.9028	.	105;121	B7Z744;Q8IWV1	.;LAX1_HUMAN	P	121;105	.	ENSP00000356186:S105P	S	+	1	0	LAX1	202007869	0.994000	0.37717	1.000000	0.80357	0.922000	0.55478	2.003000	0.40844	2.068000	0.61886	0.533000	0.62120	TCC		0.493	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		C	203741246	T	C	203741246	3	2	355	1	0	0	0	0	1	0	0	0	8650	1551	54	3	420	3	LAX1	1	203741246	Missense_Mutation	SNP	T	TCGA-BP-4768-01A-01D-1366-10	100387061	203741246	45509375	3	20102											
KIDINS220	57498	hgsc.bcm.edu;ucsc.edu	37	2	8891618	8891618	+	Silent	SNP	G	G	C			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr2:8891618G>C	ENST00000256707.3	-	23	3349	c.3168C>G	c.(3166-3168)ccC>ccG	p.P1056P	KIDINS220_ENST00000427284.1_Silent_p.P1056P|KIDINS220_ENST00000473731.1_Silent_p.P1056P|KIDINS220_ENST00000418530.1_Silent_p.P1014P	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1056					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCGTAGTTTGGGATCTAGGT	0.328																																																0													94	92	92					2																	8891618		1809	4070	5879	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3168C>G	2.37:g.8891618G>C			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	CCDS42650.1																																																																																				0.328	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		C	8891618	G	C	8891618	2	2	355	1	0	0	0	0	0	0	0	1	8273	1335	47	4		4	KIDINS220	2	8891618	Silent	SNP	G	TCGA-BP-4768-01A-01D-1366-10		8891618	234307755	4	20103											
CCT7	10574	hgsc.bcm.edu	37	2	73471736	73471736	+	Missense_Mutation	SNP	C	C	A	rs369515793		TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr2:73471736C>A	ENST00000258091.5	+	6	652	c.511C>A	c.(511-513)Cag>Aag	p.Q171K	CCT7_ENST00000539919.1_Missense_Mutation_p.Q127K|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.Q84K|CCT7_ENST00000537131.1_Missense_Mutation_p.Q71K|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000538797.1_Missense_Mutation_p.Q43K	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	171					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GATCTCCCAGCAGAAAGCTTT	0.502																																																0													57	57	57					2																	73471736		2047	4212	6259	SO:0001583	missense	10574			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.511C>A	2.37:g.73471736C>A	ENSP00000258091:p.Gln171Lys		A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210487	0.58343	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	4.89	4.89	0.63831	.	0.118711	0.64402	D	0.000015	T	0.81861	0.4912	M	0.72894	2.215	0.80722	D	1	P;B;B;P;P	0.44986	0.556;0.04;0.009;0.633;0.847	B;B;B;P;P	0.53954	0.236;0.049;0.012;0.61;0.738	T	0.77202	-0.2674	10	0.06891	T	0.86	-20.3397	15.9615	0.79933	0.0:1.0:0.0:0.0	.	84;43;71;129;171	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;Q99832	.;.;.;.;TCPH_HUMAN	K	84;127;171;71;43;129	ENSP00000442058:Q84K;ENSP00000437824:Q127K;ENSP00000258091:Q171K;ENSP00000444379:Q71K;ENSP00000438462:Q43K	ENSP00000258091:Q171K	Q	+	1	0	CCT7	73325244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.827000	0.62723	2.712000	0.92718	0.563000	0.77884	CAG		0.502	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			A	73471736	C	A	73471736	3	1	355	1	0	0	0	0	1	0	0	0	2961	711	25	4	533	4	CCT7	2	73471736	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10	64580118	73471736	169727637	5	20104											
EPC2	26122	hgsc.bcm.edu;ucsc.edu	37	2	149520266	149520266	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr2:149520266A>C	ENST00000258484.6	+	6	877	c.843A>C	c.(841-843)gaA>gaC	p.E281D		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	281					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATGGTGGTGAAATCCTTAATG	0.313																																																0													68	59	62					2																	149520266		1825	4081	5906	SO:0001583	missense	26122			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.843A>C	2.37:g.149520266A>C	ENSP00000258484:p.Glu281Asp		B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997382	0.74818	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.44	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	M	0.78223	2.4	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.73266	-0.4037	9	0.34782	T	0.22	-4.3835	11.1506	0.48455	0.9276:0.0:0.0724:0.0	.	281	Q52LR7	EPC2_HUMAN	D	281	.	ENSP00000258484:E281D	E	+	3	2	EPC2	149236736	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.089000	0.41672	0.918000	0.36919	0.477000	0.44152	GAA		0.313	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		C	149520266	A	C	149520266	3	2	355	1	0	0	0	0	1	0	0	0	5163	11	1	5	865	5	EPC2	2	149520266	Missense_Mutation	SNP	A	TCGA-BP-4768-01A-01D-1366-10	76048530	149520266	93679107	6	20105											
CHN1	1123	hgsc.bcm.edu;ucsc.edu	37	2	175742775	175742775	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr2:175742775G>T	ENST00000409900.3	-	6	655	c.342C>A	c.(340-342)caC>caA	p.H114Q	CHN1_ENST00000409156.3_Missense_Mutation_p.H114Q|CHN1_ENST00000488080.1_Intron	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	114	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCACCAGATCGTGGATGGACT	0.438			T	TAF15	extraskeletal myxoid chondrosarcoma																																		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													157	148	151					2																	175742775		1939	4158	6097	SO:0001583	missense	1123				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.342C>A	2.37:g.175742775G>T	ENSP00000386741:p.His114Gln		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189605	0.57909	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	D;D	0.87491	-2.26;-2.26	5.67	3.86	0.44501	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.86669	0.5988	N	0.20357	0.565	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.85130	0.971;0.997	D	0.85298	0.1071	10	0.51188	T	0.08	.	9.0043	0.36102	0.2506:0.0:0.7494:0.0	.	114;114	B4DV19;P15882	.;CHIN_HUMAN	Q	114	ENSP00000386741:H114Q;ENSP00000386470:H114Q	ENSP00000386470:H114Q	H	-	3	2	CHN1	175451021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.902000	0.39848	0.738000	0.32606	0.655000	0.94253	CAC		0.438	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		T	175742775	G	T	175742775	3	4	355	1	0	0	0	0	1	0	0	0	3364	1136	40	4	1069	4	CHN1	2	175742775	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10	26222509	175742775	67456598	7	20106											
NFE2L2	4780	hgsc.bcm.edu;ucsc.edu	37	2	178096052	178096052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr2:178096052C>A	ENST00000397062.3	-	5	1833	c.1279G>T	c.(1279-1281)Gag>Tag	p.E427*	NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.E411*|NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.E404*|NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.E411*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	427					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATTCTTTCTCTGGTGTGTTC	0.468			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													158	147	151					2																	178096052		1973	4186	6159	SO:0001587	stop_gained	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1279G>T	2.37:g.178096052C>A	ENSP00000380252:p.Glu427*		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Nonsense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504234	0.64410	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	.	.	.	5.83	2.17	0.27698	.	0.400516	0.31660	N	0.007280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0103	5.4187	0.16388	0.0:0.2077:0.1365:0.6558	.	.	.	.	X	411;427;404;155	.	ENSP00000380252:E427X	E	-	1	0	NFE2L2	177804298	.	.	0.945000	0.38365	0.884000	0.51177	.	.	0.137000	0.18759	-1.339000	0.01253	GAG		0.468	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		A	178096052	C	A	178096052	4	1	355	1	0	0	0	0	0	1	0	0	10370	922	32	4	542	4	NFE2L2	2	178096052	Nonsense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10	2353277	178096052	65103321	8	20107											
C2orf66	401027	hgsc.bcm.edu;ucsc.edu	37	2	197674050	197674050	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr2:197674050G>A	ENST00000342506.2	-	1	950	c.62C>T	c.(61-63)gCa>gTa	p.A21V		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	21						extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						CAGGAGAGGTGCTCTGGTCAT	0.502																																																0													193	175	181					2																	197674050		2203	4300	6503	SO:0001583	missense	401027				CCDS2317.1	2q33.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000187944	ENSG00000187944			33809	protein-coding gene	gene with protein product							Standard	NM_213608		Approved	UNQ6411	uc002utv.3	Q6UXQ4	OTTHUMG00000132742	ENST00000342506.2:c.62C>T	2.37:g.197674050G>A	ENSP00000339384:p.Ala21Val		B2RNW3	Missense_Mutation	SNP	ENST00000342506.2	37	CCDS2317.1	.	.	.	.	.	.	.	.	.	.	G	6.063	0.379920	0.11466	.	.	ENSG00000187944	ENST00000342506	.	.	.	4.2	-1.12	0.09808	.	0.334006	0.21166	N	0.079079	T	0.22475	0.0542	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.27502	-1.0072	9	0.10636	T	0.68	1.3819	8.4601	0.32923	0.6893:0.0:0.3107:0.0	.	21	Q6UXQ4	CB066_HUMAN	V	21	.	ENSP00000339384:A21V	A	-	2	0	C2orf66	197382295	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.265000	0.18515	-0.118000	0.11851	0.655000	0.94253	GCA		0.502	C2orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256102.1	NM_213608		A	197674050	G	A	197674050	3	1	355	1	0	0	0	0	1	0	0	0	2187	1319	46	2	299	2	C2orf66	2	197674050	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10	19577998	197674050	45525323	9	20108											
PLCD4	84812	hgsc.bcm.edu;ucsc.edu	37	2	219500531	219500531	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr2:219500531C>A	ENST00000450993.2	+	14	2248	c.1909C>A	c.(1909-1911)Cag>Aag	p.Q637K	PLCD4_ENST00000432688.1_Missense_Mutation_p.Q669K|PLCD4_ENST00000417849.1_Missense_Mutation_p.Q637K|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	637	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GATCAGCGGTCAGCAACTCCC	0.562																																																0													46	48	48					2																	219500531		1954	4138	6092	SO:0001583	missense	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1909C>A	2.37:g.219500531C>A	ENSP00000388631:p.Gln637Lys		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235163	0.95207	.	.	ENSG00000115556	ENST00000450993;ENST00000417849;ENST00000432688	T;T;T	0.65916	-0.18;-0.18;-0.18	5.37	5.37	0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	L	0.51422	1.61	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77267	-0.2651	10	0.87932	D	0	.	18.9044	0.92454	0.0:1.0:0.0:0.0	.	637	Q9BRC7	PLCD4_HUMAN	K	637;637;669	ENSP00000388631:Q637K;ENSP00000396942:Q637K;ENSP00000396185:Q669K	ENSP00000396942:Q637K	Q	+	1	0	PLCD4	219208775	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.609000	0.82925	2.793000	0.96121	0.655000	0.94253	CAG		0.562	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			A	219500531	C	A	219500531	3	1	355	1	0	0	0	0	1	0	0	0	12035	827	29	4	1959	4	PLCD4	2	219500531	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10	21826481	219500531	23698842	10	20109											
OGG1	4968	hgsc.bcm.edu	37	3	9798842	9798842	+	3'UTR	SNP	A	A	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr3:9798842A>T	ENST00000344629.7	+	0	1389				OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302003.7_Missense_Mutation_p.T355S|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase						acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TAGATGGGGCACCCTGGACAA	0.612								Base excision repair (BER), DNA glycosylases																																								0													90	97	95					3																	9798842		2203	4300	6503	SO:0001624	3_prime_UTR_variant	4968			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.*8A>T	3.37:g.9798842A>T			A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	CCDS2581.1	.	.	.	.	.	.	.	.	.	.	A	3.164	-0.171545	0.06421	.	.	ENSG00000114026	ENST00000302003;ENST00000339542	T	0.59772	0.24	4.77	-9.54	0.00572	.	.	.	.	.	T	0.22126	0.0533	N	0.04508	-0.205	0.09310	N	0.999999	B;B;B;B	0.10296	0.0;0.003;0.001;0.001	B;B;B;B	0.16289	0.003;0.015;0.005;0.001	T	0.12016	-1.0564	9	0.10111	T	0.7	.	3.916	0.09224	0.5641:0.1546:0.1355:0.1458	.	142;126;355;355	F8WA07;Q9HCR8;O15527-3;E5KPN0	.;.;.;.	S	355;142	ENSP00000305584:T355S	ENSP00000305584:T355S	T	+	1	0	OGG1	9773842	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-1.633000	0.02022	-2.512000	0.00503	-0.182000	0.12963	ACC		0.612	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		T	9798842	A	T	9798842	1	4	355	0	1	0	0	0	0	0	0	0	10847	159	6	5		5	OGG1	3	9798842	3'UTR	SNP	A	TCGA-BP-4768-01A-01D-1366-10		9798842	188223588	11	20110											
SI	6476	hgsc.bcm.edu	37	3	164777762	164777762	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr3:164777762A>T	ENST00000264382.3	-	10	1136	c.1074T>A	c.(1072-1074)agT>agA	p.S358R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	358	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATTCCAGCGACTTAGTTGGA	0.373										HNSCC(35;0.089)																																						0													133	146	142					3																	164777762		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1074T>A	3.37:g.164777762A>T	ENSP00000264382:p.Ser358Arg		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567647	0.65651	.	.	ENSG00000090402	ENST00000264382	D	0.93189	-3.18	5.49	1.71	0.24356	Glycoside hydrolase, superfamily (1);	0.082013	0.85682	D	0.000000	D	0.97523	0.9189	H	0.98256	4.185	0.45194	D	0.998201	D	0.89917	1.0	D	0.97110	1.0	D	0.96269	0.9197	10	0.62326	D	0.03	.	9.7063	0.40218	0.7068:0.0:0.2932:0.0	.	358	P14410	SUIS_HUMAN	R	358	ENSP00000264382:S358R	ENSP00000264382:S358R	S	-	3	2	SI	166260456	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	1.428000	0.34892	0.372000	0.24591	0.397000	0.26171	AGT		0.373	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		T	164777762	A	T	164777762	3	4	355	1	0	0	0	0	1	0	0	0	14303	272	10	5	4565	5	SI	3	164777762	Missense_Mutation	SNP	A	TCGA-BP-4768-01A-01D-1366-10	154978920	164777762	33244668	12	20111											
FNDC3B	64778	hgsc.bcm.edu;ucsc.edu	37	3	172115178	172115178	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr3:172115178T>A	ENST00000336824.4	+	26	3627	c.3528T>A	c.(3526-3528)gaT>gaA	p.D1176E	FNDC3B_ENST00000416957.1_Missense_Mutation_p.D1176E|FNDC3B_ENST00000415807.2_Missense_Mutation_p.D1176E	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1176					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGCCTACTGATGAACAGTTTG	0.418																																																0													196	169	178					3																	172115178		2203	4300	6503	SO:0001583	missense	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3528T>A	3.37:g.172115178T>A	ENSP00000338523:p.Asp1176Glu		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.415690	0.62511	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.33216	1.42;1.42;1.42	5.76	-1.07	0.09968	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	M	0.63843	1.955	0.80722	D	1	D	0.59357	0.985	P	0.58013	0.831	T	0.40021	-0.9585	10	0.52906	T	0.07	-22.2439	12.6039	0.56513	0.0:0.4414:0.0:0.5586	.	1176	Q53EP0	FND3B_HUMAN	E	1176	ENSP00000411242:D1176E;ENSP00000338523:D1176E;ENSP00000389094:D1176E	ENSP00000338523:D1176E	D	+	3	2	FNDC3B	173597872	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	0.786000	0.26844	-0.121000	0.11787	-0.456000	0.05471	GAT		0.418	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		A	172115178	T	A	172115178	3	1	355	1	0	0	0	0	1	0	0	0	5972	1461	51	5	3626	5	FNDC3B	3	172115178	Missense_Mutation	SNP	T	TCGA-BP-4768-01A-01D-1366-10	7337416	172115178	25907252	13	20112											
TBC1D1	23216	hgsc.bcm.edu;ucsc.edu	37	4	38029477	38029477	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr4:38029477G>T	ENST00000261439.4	+	7	1634	c.1279G>T	c.(1279-1281)Gcg>Tcg	p.A427S	TBC1D1_ENST00000508802.1_Missense_Mutation_p.A427S	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	427					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCAGGAGCAGGCGACTATTTT	0.373																																																0													70	70	70					4																	38029477		2203	4300	6503	SO:0001583	missense	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1279G>T	4.37:g.38029477G>T	ENSP00000261439:p.Ala427Ser		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.1|20.1|20.1	3.936741|3.936741|3.936741	0.73557|0.73557|0.73557	.|.|.	.|.|.	ENSG00000065882|ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803|ENST00000510573|ENST00000513936	T;T;T|.|.	0.19806|.|.	3.47;3.87;2.12|.|.	5.15|5.15|5.15	5.15|5.15|5.15	0.70609|0.70609|0.70609	.|.|.	0.000000|.|.	0.56097|.|.	D|.|.	0.000039|.|.	T|T|T	0.75910|0.75910|0.75910	0.3914|0.3914|0.3914	M|M|M	0.74881|0.74881|0.74881	2.28|2.28|2.28	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.76494|.|.	0.999;0.999;0.976;0.999|.|.	D;D;P;D|.|.	0.70487|.|.	0.945;0.969;0.53;0.945|.|.	T|T|T	0.76252|0.76252|0.76252	-0.3027|-0.3027|-0.3027	10|5|5	0.48119|.|.	T|.|.	0.1|.|.	-15.036|-15.036|-15.036	17.4085|17.4085|17.4085	0.87480|0.87480|0.87480	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	427;427;159;427|.|.	B9A6J6;E9PGH8;Q6PJJ8;Q86TI0|.|.	.;.;.;TBCD1_HUMAN|.|.	S|V|S	427;427;298|74|23	ENSP00000423651:A427S;ENSP00000261439:A427S;ENSP00000396877:A298S|.|.	ENSP00000261439:A427S|.|.	A|G|R	+|+|+	1|2|3	0|0|2	TBC1D1|TBC1D1|TBC1D1	37705872|37705872|37705872	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.983000|0.983000|0.983000	0.44433|0.44433|0.44433	0.910000|0.910000|0.910000	0.53928|0.53928|0.53928	6.860000|6.860000|6.860000	0.75473|0.75473|0.75473	2.391000|2.391000|2.391000	0.81399|0.81399|0.81399	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GCG|GGC|AGG		0.373	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		T	38029477	G	T	38029477	3	4	355	1	0	0	0	0	1	0	0	0	15602	1203	42	4	1301	4	TBC1D1	4	38029477	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10		38029477	153124799	14	20113											
APBB2	323	hgsc.bcm.edu	37	4	40892444	40892444	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr4:40892444C>A	ENST00000295974.8	-	12	2092	c.1463G>T	c.(1462-1464)aGc>aTc	p.S488I	APBB2_ENST00000513140.1_Missense_Mutation_p.S467I|APBB2_ENST00000508593.1_Missense_Mutation_p.S489I|APBB2_ENST00000506352.1_Missense_Mutation_p.S467I	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	488	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTGCAGCACGCTGCGGTCCAT	0.617																																					Ovarian(3;20 75 16686 49997)											0													81	83	83					4																	40892444		2161	4271	6432	SO:0001583	missense	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1463G>T	4.37:g.40892444C>A	ENSP00000295974:p.Ser488Ile		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	CCDS54761.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.03|15.03|15.03	2.713293|2.713293|2.713293	0.48517|0.48517|0.48517	.|.|.	.|.|.	ENSG00000163697|ENSG00000163697|ENSG00000163697	ENST00000513493|ENST00000513611|ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	.|.|T;T;T;T	.|.|0.20463	.|.|2.07;2.07;2.07;2.07	5.78|5.78|5.78	-0.704|-0.704|-0.704	0.11256|0.11256|0.11256	.|.|Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	.|.|0.610145	.|.|0.17953	.|.|N	.|.|0.156421	T|T|T	0.26593|0.26593|0.26593	0.0650|0.0650|0.0650	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.25583|0.25583|0.25583	N|N|N	0.986775|0.986775|0.986775	.|.|B;B;B;B	.|.|0.30033	.|.|0.029;0.266;0.225;0.266	.|.|B;B;B;B	.|.|0.37015	.|.|0.055;0.185;0.239;0.185	T|T|T	0.49113|0.49113|0.49113	-0.8973|-0.8973|-0.8973	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-7.6985|-7.6985|-7.6985	25.9718|25.9718|25.9718	0.99995|0.99995|0.99995	0.0:0.8006:0.1994:0.0|0.0:0.8006:0.1994:0.0|0.0:0.8006:0.1994:0.0	.|.|.	.|.|450;489;467;488	.|.|B4DJ88;E9PG87;Q92870-2;Q92870	.|.|.;.;.;APBB2_HUMAN	S|H|I	25|457|488;487;467;489;467	.|.|ENSP00000295974:S488I;ENSP00000426018:S467I;ENSP00000427211:S489I;ENSP00000421539:S467I	.|.|ENSP00000295974:S488I	A|Q|S	-|-|-	1|3|2	0|2|0	APBB2|APBB2|APBB2	40587201|40587201|40587201	0.659000|0.659000|0.659000	0.27411|0.27411|0.27411	0.012000|0.012000|0.012000	0.15200|0.15200|0.15200	0.986000|0.986000|0.986000	0.74619|0.74619|0.74619	0.934000|0.934000|0.934000	0.28910|0.28910|0.28910	-0.177000|-0.177000|-0.177000	0.10690|0.10690|0.10690	-0.282000|-0.282000|-0.282000	0.10007|0.10007|0.10007	GCG|CAG|AGC		0.617	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		A	40892444	C	A	40892444	3	1	355	1	0	0	0	0	1	0	0	0	761	797	28	4	841	4	APBB2	4	40892444	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10	2862967	40892444	150261832	15	20114											
SLC4A4	8671	hgsc.bcm.edu	37	4	72313420	72313420	+	Silent	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr4:72313420C>T	ENST00000264485.5	+	9	1140	c.1023C>T	c.(1021-1023)ggC>ggT	p.G341G	SLC4A4_ENST00000512686.1_Silent_p.G297G|SLC4A4_ENST00000425175.1_Silent_p.G341G|SLC4A4_ENST00000351898.6_Silent_p.G341G|SLC4A4_ENST00000340595.3_Silent_p.G297G|SLC4A4_ENST00000514331.1_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	341					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ACGAGATTGGCAGAGCCATTG	0.438																																																0													175	144	155					4																	72313420		2203	4300	6503	SO:0001819	synonymous_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1023C>T	4.37:g.72313420C>T			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	CCDS43236.1																																																																																				0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		T	72313420	C	T	72313420	2	4	355	1	0	0	0	0	0	0	0	1	14662	697	25	2		2	SLC4A4	4	72313420	Silent	SNP	C	TCGA-BP-4768-01A-01D-1366-10	31420976	72313420	118840856	16	20115											
C4orf29	80167	hgsc.bcm.edu;ucsc.edu	37	4	128949871	128949871	+	Missense_Mutation	SNP	A	A	G	rs375508834		TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr4:128949871A>G	ENST00000444616.1	+	10	1188	c.941A>G	c.(940-942)aAa>aGa	p.K314R	C4orf29_ENST00000398965.1_Missense_Mutation_p.K314R|C4orf29_ENST00000388795.5_Missense_Mutation_p.K266R			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	314						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCAACCAACAAAAGTGGTTAT	0.378																																																0								A	ARG/LYS	1,3803		0,1,1901	91	90	90		941	0.5	1	4		90	0,8260		0,0,4130	no	missense	C4orf29	NM_001039717.1	26	0,1,6031	GG,GA,AA		0.0,0.0263,0.0083	benign	314/415	128949871	1,12063	1902	4130	6032	SO:0001583	missense	80167			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.941A>G	4.37:g.128949871A>G	ENSP00000397229:p.Lys314Arg		A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37		.	.	.	.	.	.	.	.	.	.	A	7.996	0.754393	0.15778	2.63E-4	0.0	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	4.35	0.528	0.17089	.	0.545828	0.20902	N	0.083632	T	0.23727	0.0574	N	0.24115	0.695	0.22511	N	0.999039	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.0	T	0.17018	-1.0383	9	0.22706	T	0.39	-19.3209	8.2557	0.31756	0.6073:0.0:0.3927:0.0	.	266;314	B7WP89;Q0P651	.;CD029_HUMAN	R	314;145;314;314;266;232;221	.	ENSP00000373447:K266R	K	+	2	0	C4orf29	129169321	0.998000	0.40836	0.984000	0.44739	0.737000	0.42083	1.380000	0.34351	0.242000	0.21303	-0.256000	0.11100	AAA		0.378	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		G	128949871	A	G	128949871	3	3	355	1	0	0	0	0	1	0	0	0	2261	14	1	3	975	3	C4orf29	4	128949871	Missense_Mutation	SNP	A	TCGA-BP-4768-01A-01D-1366-10	56636451	128949871	62204405	17	20116											
LRBA	987	hgsc.bcm.edu	37	4	151358010	151358010	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr4:151358010C>T	ENST00000357115.3	-	46	7063	c.6820G>A	c.(6820-6822)Gga>Aga	p.G2274R	LRBA_ENST00000510413.1_Missense_Mutation_p.G2263R|LRBA_ENST00000507224.1_Missense_Mutation_p.G2263R|LRBA_ENST00000535741.1_Missense_Mutation_p.G2263R|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2274	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.		G -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G2274R(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTCAGAGCTCCTATTGGCTGC	0.393																																																1	Substitution - Missense(1)	breast(1)											72	62	65					4																	151358010		2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6820G>A	4.37:g.151358010C>T	ENSP00000349629:p.Gly2274Arg		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333637	0.95758	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.93	5.93	0.95920	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.94794	0.8319	H	0.96996	3.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95720	0.8765	10	0.87932	D	0	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	2274;2263;164	P50851;P50851-2;Q68D03	LRBA_HUMAN;.;.	R	2263;2263;2274;2263	ENSP00000446299:G2263R;ENSP00000421552:G2263R;ENSP00000349629:G2274R;ENSP00000422180:G2263R	ENSP00000349629:G2274R	G	-	1	0	LRBA	151577460	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.743000	0.85020	2.798000	0.96311	0.655000	0.94253	GGA		0.393	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			T	151358010	C	T	151358010	3	4	355	1	0	0	0	0	1	0	0	0	8933	690	24	2	1823	2	LRBA	4	151358010	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10	22408139	151358010	39796266	18	20117											
TERT	7015	hgsc.bcm.edu	37	5	1254527	1254527	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr5:1254527C>T	ENST00000310581.5	-	15	3308	c.3251G>A	c.(3250-3252)cGa>cAa	p.R1084Q	TERT_ENST00000334602.6_Missense_Mutation_p.R1021Q|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1084	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GACACGGTGTCGAGTCAGCTT	0.682									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																							0													55	65	62					5																	1254527		2133	4256	6389	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3251G>A	5.37:g.1254527C>T	ENSP00000309572:p.Arg1084Gln		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	c	0.696	-0.792593	0.02884	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.96885	-4.16;-4.04	4.22	-1.92	0.07618	.	1.312180	0.05086	N	0.484410	D	0.90477	0.7017	L	0.41573	1.285	0.09310	N	1	B;B	0.24675	0.109;0.005	B;B	0.12156	0.007;0.002	T	0.79806	-0.1648	10	0.10636	T	0.68	-1.6572	1.3391	0.02150	0.1499:0.239:0.1575:0.4535	.	1021;1084	O14746-3;O14746	.;TERT_HUMAN	Q	1084;1021	ENSP00000309572:R1084Q;ENSP00000334346:R1021Q	ENSP00000309572:R1084Q	R	-	2	0	TERT	1307527	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.127000	0.03251	-0.215000	0.10063	-0.477000	0.04895	CGA		0.682	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			T	1254527	C	T	1254527	3	4	355	1	0	0	0	0	1	0	0	0	15769	884	31	1	155	1	TERT	5	1254527	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10		1254527	179660733	19	20118											
OXCT1	5019	hgsc.bcm.edu;ucsc.edu	37	5	41807505	41807505	+	Silent	SNP	T	T	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr5:41807505T>A	ENST00000196371.5	-	8	928	c.768A>T	c.(766-768)ccA>ccT	p.P256P	OXCT1_ENST00000509987.1_Silent_p.P70P	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	256					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GGATGTCTTCTGGAGCAAATG	0.313																																																0													107	107	107					5																	41807505		2203	4300	6503	SO:0001819	synonymous_variant	5019			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.768A>T	5.37:g.41807505T>A			B2R5V2|B7Z528	Silent	SNP	ENST00000196371.5	37	CCDS3937.1																																																																																				0.313	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		A	41807505	T	A	41807505	2	1	355	1	0	0	0	0	0	0	0	1	11331	1567	55	5		5	OXCT1	5	41807505	Silent	SNP	T	TCGA-BP-4768-01A-01D-1366-10	40552978	41807505	139107755	20	20119											
HARS2	23438	hgsc.bcm.edu;ucsc.edu	37	5	140076951	140076951	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr5:140076951G>A	ENST00000230771.3	+	10	1380	c.1157G>A	c.(1156-1158)gGg>gAg	p.G386E	HARS2_ENST00000435019.2_Missense_Mutation_p.G346E|HARS2_ENST00000508522.1_Missense_Mutation_p.G361E|ZMAT2_ENST00000274712.3_5'Flank|HARS2_ENST00000448069.2_Missense_Mutation_p.G214E|HARS2_ENST00000437649.2_Missense_Mutation_p.G312E|HARS2_ENST00000432671.2_Missense_Mutation_p.G272E	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	386					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCATTGGGGTTGAGCGA	0.557																																																0													67	65	65					5																	140076951		2203	4300	6503	SO:0001583	missense	23438			U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4817	protein-coding gene	gene with protein product	"histidine tRNA ligase 2, mitochondrial (putative)"	600783	"histidyl-tRNA synthetase-like"	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.1157G>A	5.37:g.140076951G>A	ENSP00000230771:p.Gly386Glu		B4DDY8	Missense_Mutation	SNP	ENST00000230771.3	37	CCDS4238.1	.	.	.	.	.	.	.	.	.	.	g	26.7	4.759424	0.89932	.	.	ENSG00000112855	ENST00000230771;ENST00000435019;ENST00000437649;ENST00000432671;ENST00000508522;ENST00000448069;ENST00000427675	T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.67	5.67	0.87782	Aminoacyl-tRNA synthetase, class II (1);	0.091610	0.85682	D	0.000000	D	0.92551	0.7634	H	0.98918	4.37	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.997	D	0.95207	0.8322	10	0.87932	D	0	-2.8342	19.3952	0.94604	0.0:0.0:1.0:0.0	.	239;214;312;361;386	E9PD60;B4DQ67;E9PG66;B4DDY8;P49590	.;.;.;.;SYHM_HUMAN	E	386;346;312;272;361;214;225	ENSP00000230771:G386E;ENSP00000412887:G346E;ENSP00000411708:G312E;ENSP00000415007:G272E;ENSP00000423616:G361E;ENSP00000407105:G214E	ENSP00000230771:G386E	G	+	2	0	HARS2	140057135	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	9.553000	0.98118	2.673000	0.90976	0.655000	0.94253	GGG		0.557	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208		A	140076951	G	A	140076951	3	1	355	1	0	0	0	0	1	0	0	0	6962	1232	43	2	1195	2	HARS2	5	140076951	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10	98269446	140076951	40838309	21	20120											
GEMIN5	25929	hgsc.bcm.edu;ucsc.edu	37	5	154278063	154278063	+	Silent	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr5:154278063C>T	ENST00000285873.7	-	23	3357	c.3282G>A	c.(3280-3282)gaG>gaA	p.E1094E		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1094					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCAGAAGCAGCTCTTGGGCAC	0.537																																																0													104	103	103					5																	154278063		2203	4300	6503	SO:0001819	synonymous_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3282G>A	5.37:g.154278063C>T			Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	CCDS4330.1																																																																																				0.537	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			T	154278063	C	T	154278063	2	4	355	1	0	0	0	0	0	0	0	1	6333	796	28	2		2	GEMIN5	5	154278063	Silent	SNP	C	TCGA-BP-4768-01A-01D-1366-10	14201112	154278063	26637197	22	20121											
PPP1R10	5514	hgsc.bcm.edu	37	6	30570687	30570687	+	Silent	SNP	T	T	A	rs567936494|rs368947097	byFrequency	TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr6:30570687T>A	ENST00000376511.2	-	18	2445	c.1893A>T	c.(1891-1893)ccA>ccT	p.P631P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	631	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CAGGACCCCCTGGTGGGAAAC	0.547																																																0								T		11,4359		0,11,2174	20	22	21		1893	-0.7	1	6		21	7,8515		0,7,4254	no	coding-synonymous	PPP1R10	NM_002714.2		0,18,6428	AA,AT,TT		0.0821,0.2517,0.1396		631/941	30570687	18,12874	2185	4261	6446	SO:0001819	synonymous_variant	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1893A>T	6.37:g.30570687T>A			O00405	Silent	SNP	ENST00000376511.2	37	CCDS4681.1																																																																																				0.547	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		A	30570687	T	A	30570687	2	1	355	1	0	0	0	0	0	0	0	1	12357	1567	55	5		5	PPP1R10	6	30570687	Silent	SNP	T	TCGA-BP-4768-01A-01D-1366-10		30570687	140544380	23	20122											
TNRC18	84629	hgsc.bcm.edu	37	7	5434094	5434094	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr7:5434094A>G	ENST00000430969.1	-	3	668	c.320T>C	c.(319-321)cTg>cCg	p.L107P	TNRC18_ENST00000399434.2_Missense_Mutation_p.L33P|TNRC18_ENST00000399537.4_Missense_Mutation_p.L107P	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	107							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCGGCCCACAGCTGCACCAT	0.677																																																0													21	25	23					7																	5434094		1998	4127	6125	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.320T>C	7.37:g.5434094A>G	ENSP00000395538:p.Leu107Pro		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388380	0.61956	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000434361;ENST00000399434	T;T	0.17691	2.26;2.26	4.49	4.49	0.54785	.	.	.	.	.	T	0.27278	0.0669	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.995	T	0.01810	-1.1269	9	0.52906	T	0.07	.	10.1143	0.42581	1.0:0.0:0.0:0.0	.	33;107	A8MTZ4;O15417	.;TNC18_HUMAN	P	107;107;33;33	ENSP00000382452:L107P;ENSP00000395538:L107P	ENSP00000382364:L33P	L	-	2	0	TNRC18	5400620	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.348000	0.73009	1.893000	0.54813	0.459000	0.35465	CTG		0.677	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	5434094	A	G	5434094	3	3	355	1	0	0	0	0	1	0	0	0	16344	188	7	3	8698	3	TNRC18	7	5434094	Missense_Mutation	SNP	A	TCGA-BP-4768-01A-01D-1366-10		5434094	153704569	24	20123											
RFC2	5982	hgsc.bcm.edu	37	7	73661019	73661019	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr7:73661019T>A	ENST00000055077.3	-	5	467	c.407A>T	c.(406-408)aAg>aTg	p.K136M	RFC2_ENST00000352131.3_Intron	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	136					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						AATGATGATCTTATGTCGGCC	0.373																																																0													182	170	174					7																	73661019		2203	4300	6503	SO:0001583	missense	5982				CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"ATPases / AAA-type"	9970	protein-coding gene	gene with protein product	"activator 1"	600404	"replication factor C (activator 1) 2 (40kD)"			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.407A>T	7.37:g.73661019T>A	ENSP00000055077:p.Lys136Met		B5BU07|D3DXG3|P32846|Q9BU93	Missense_Mutation	SNP	ENST00000055077.3	37	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	t	26.5	4.741841	0.89573	.	.	ENSG00000049541	ENST00000055077	D	0.93247	-3.19	5.12	5.12	0.69794	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97701	0.9246	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98855	1.0760	10	0.87932	D	0	.	14.0527	0.64747	0.0:0.0:0.0:1.0	.	136	P35250	RFC2_HUMAN	M	136	ENSP00000055077:K136M	ENSP00000055077:K136M	K	-	2	0	RFC2	73298955	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.706000	0.84615	2.064000	0.61679	0.519000	0.50382	AAG		0.373	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471		A	73661019	T	A	73661019	3	1	355	1	0	0	0	0	1	0	0	0	13251	1609	56	5	685	5	RFC2	7	73661019	Missense_Mutation	SNP	T	TCGA-BP-4768-01A-01D-1366-10	68226925	73661019	85477644	25	20124											
SOX7	83595	hgsc.bcm.edu	37	8	10583337	10583337	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr8:10583337C>T	ENST00000304501.1	-	2	1156	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M	SOX7_ENST00000554914.1_Missense_Mutation_p.V412M|SOX7_ENST00000553390.1_Missense_Mutation_p.V412M	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	360	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V360L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GTTGGTGTCACCTGGGAGACC	0.592																																																1	Substitution - Missense(1)	kidney(1)											76	70	72					8																	10583337		2203	4300	6503	SO:0001583	missense	83595			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.1078G>A	8.37:g.10583337C>T	ENSP00000301921:p.Val360Met		B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	C	8.188	0.795260	0.16327	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.76448	-1.02;-1.02;-1.02	4.53	2.74	0.32292	.	0.770706	0.11610	U	0.546869	T	0.62816	0.2459	N	0.22421	0.69	0.24442	N	0.994523	B;B	0.31256	0.316;0.002	B;B	0.28553	0.091;0.011	T	0.52457	-0.8573	10	0.46703	T	0.11	.	8.205	0.31449	0.0:0.7324:0.0:0.2676	.	412;360	B4DKV0;Q9BT81	.;SOX7_HUMAN	M	360;412;412	ENSP00000301921:V360M;ENSP00000452017:V412M;ENSP00000451145:V412M	ENSP00000346908:V412M	V	-	1	0	SOX7;CTD-2135J3.4	10620747	0.269000	0.24143	1.000000	0.80357	0.493000	0.33554	0.808000	0.27154	0.527000	0.28560	-0.254000	0.11334	GTG		0.592	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			T	10583337	C	T	10583337	3	4	355	1	0	0	0	0	1	0	0	0	14962	507	18	2	92	2	SOX7	8	10583337	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10		10583337	135780685	26	20125											
JPH1	56704	hgsc.bcm.edu	37	8	75157095	75157095	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr8:75157095G>C	ENST00000342232.4	-	4	1614	c.1574C>G	c.(1573-1575)gCg>gGg	p.A525G	JPH1_ENST00000518195.1_5'Flank	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	525					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGGCACAACCGCTCCTGCCTC	0.562																																																0													81	66	71					8																	75157095		2203	4300	6503	SO:0001583	missense	56704			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1574C>G	8.37:g.75157095G>C	ENSP00000344488:p.Ala525Gly		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	G	7.417	0.635913	0.14386	.	.	ENSG00000104369	ENST00000342232	T	0.57595	0.39	5.17	4.3	0.51218	.	0.631850	0.16790	N	0.199431	T	0.33059	0.0850	N	0.22421	0.69	0.09310	N	1	B	0.32160	0.358	B	0.22880	0.042	T	0.10894	-1.0610	10	0.23302	T	0.38	.	9.8822	0.41240	0.1539:0.0:0.8461:0.0	.	525	Q9HDC5	JPH1_HUMAN	G	525	ENSP00000344488:A525G	ENSP00000344488:A525G	A	-	2	0	JPH1	75319649	0.005000	0.15991	0.036000	0.18154	0.520000	0.34377	1.505000	0.35736	1.425000	0.47237	0.655000	0.94253	GCG		0.562	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			C	75157095	G	C	75157095	3	2	355	1	0	0	0	0	1	0	0	0	7962	1087	38	4	419	4	JPH1	8	75157095	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10	64573758	75157095	71206927	27	20126											
PKIA	5569	hgsc.bcm.edu;ucsc.edu	37	8	79510666	79510666	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr8:79510666G>C	ENST00000396418.2	+	3	533	c.47G>C	c.(46-48)aGa>aCa	p.R16T	PKIA_ENST00000352966.5_Missense_Mutation_p.R16T|PKIA_ENST00000518467.1_Missense_Mutation_p.R16T	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	16		Important for inhibition. {ECO:0000250}.			negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP-dependent protein kinase inhibitor activity (GO:0004862)|protein kinase A catalytic subunit binding (GO:0034236)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						GCTTCAGGAAGAACAGGTAGA	0.373																																																0													153	143	147					8																	79510666		2203	4300	6503	SO:0001583	missense	5569			S76965	CCDS6222.1	8q21.13	2014-08-12			ENSG00000171033	ENSG00000171033			9017	protein-coding gene	gene with protein product		606059		PRKACN1		1770951	Standard	NM_006823		Approved		uc003ybb.3	P61925	OTTHUMG00000164618	ENST00000396418.2:c.47G>C	8.37:g.79510666G>C	ENSP00000379696:p.Arg16Thr		P04541|Q6IAV2	Missense_Mutation	SNP	ENST00000396418.2	37	CCDS6222.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534763	0.64972	.	.	ENSG00000171033	ENST00000396418;ENST00000352966;ENST00000518467	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.82623	0.5077	.	.	.	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.82692	-0.0331	7	.	.	.	.	19.1925	0.93672	0.0:0.0:1.0:0.0	.	16	P61925	IPKA_HUMAN	T	16	.	.	R	+	2	0	PKIA	79673221	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.555000	0.90693	2.529000	0.85273	0.585000	0.79938	AGA		0.373	PKIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379420.1			C	79510666	G	C	79510666	3	2	355	1	0	0	0	0	1	0	0	0	11975	942	33	4	49	4	PKIA	8	79510666	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10	4353571	79510666	66853356	28	20127											
PTCH1	5727	hgsc.bcm.edu	37	9	98242754	98242754	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr9:98242754C>T	ENST00000331920.6	-	6	1162	c.863G>A	c.(862-864)gGt>gAt	p.G288D	PTCH1_ENST00000421141.1_Missense_Mutation_p.G137D|PTCH1_ENST00000418258.1_Missense_Mutation_p.G137D|PTCH1_ENST00000430669.2_Missense_Mutation_p.G222D|PTCH1_ENST00000437951.1_Missense_Mutation_p.G222D|PTCH1_ENST00000375274.2_Missense_Mutation_p.G287D|PTCH1_ENST00000429896.2_Missense_Mutation_p.G137D|PTCH1_ENST00000548379.1_5'UTR	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	288					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.G288D(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTAACCATGACCAACCTCAGC	0.507																																																1	Substitution - Missense(1)	skin(1)											120	117	118					9																	98242754		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.863G>A	9.37:g.98242754C>T	ENSP00000332353:p.Gly288Asp		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137868	0.94517	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271;ENST00000548420;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820	D;D;D;D;D;D;D;D;T;D;D;D;D	0.91577	-2.87;-2.83;-2.82;-2.82;-2.83;-2.82;-2.87;-2.66;-1.16;-2.1;-2.1;-2.1;-2.1	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	M	0.71581	2.175	0.80722	D	1	D;P;D;P	0.89917	1.0;0.92;1.0;0.869	D;P;D;B	0.97110	1.0;0.674;0.997;0.418	D	0.93648	0.6970	10	0.39692	T	0.17	-18.3885	20.2187	0.98312	0.0:1.0:0.0:0.0	.	137;222;287;288	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	D	288;222;137;137;222;137;287;5;8;137;137;137;137	ENSP00000332353:G288D;ENSP00000389744:G222D;ENSP00000399981:G137D;ENSP00000396135:G137D;ENSP00000410287:G222D;ENSP00000414823:G137D;ENSP00000364423:G287D;ENSP00000364420:G5D;ENSP00000449078:G8D;ENSP00000447797:G137D;ENSP00000447008:G137D;ENSP00000447878:G137D;ENSP00000448843:G137D	ENSP00000332353:G288D	G	-	2	0	PTCH1	97282575	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.780000	0.95670	0.655000	0.94253	GGT		0.507	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		T	98242754	C	T	98242754	3	4	355	1	0	0	0	0	1	0	0	0	12735	507	18	2	3552	2	PTCH1	9	98242754	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10		98242754	42970677	29	20128											
RET	5979	hgsc.bcm.edu;ucsc.edu	37	10	43608353	43608353	+	Silent	SNP	C	C	T	rs201209972	byFrequency	TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr10:43608353C>T	ENST00000355710.3	+	9	1933	c.1701C>T	c.(1699-1701)gaC>gaT	p.D567D	RET_ENST00000340058.5_Silent_p.D567D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	567					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCTGCCCCGACGGCCACTGCG	0.587		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				C|||	2	0.000399361	0.0	0.0014	5008	,	,		19949	0.0		0.0	False		,,,				2504	0.001				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0								C	,	0,4406		0,0,2203	105	78	87		1701,1701	-10.5	0	10		87	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	RET	NM_020630.4,NM_020975.4	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	567/1073,567/1115	43608353	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1701C>T	10.37:g.43608353C>T			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																				0.587	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		T	43608353	C	T	43608353	2	4	355	1	0	0	0	0	0	0	0	1	13241	535	19	1		1	RET	10	43608353	Silent	SNP	C	TCGA-BP-4768-01A-01D-1366-10		43608353	91926394	30	20129											
DDX50	79009	hgsc.bcm.edu;ucsc.edu	37	10	70673216	70673216	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr10:70673216G>C	ENST00000373585.3	+	6	934	c.827G>C	c.(826-828)aGt>aCt	p.S276T	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	276	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CATCTGCAGAGTGGCCGATTG	0.393																																																0													152	143	146					10																	70673216		2203	4300	6503	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.827G>C	10.37:g.70673216G>C	ENSP00000362687:p.Ser276Thr		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565454	0.45694	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.13420	2.59	5.09	5.09	0.68999	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.082300	0.85682	D	0.000000	T	0.09291	0.0229	N	0.17901	0.54	0.37521	D	0.917549	B;B	0.30236	0.274;0.146	B;B	0.30401	0.115;0.101	T	0.11717	-1.0576	10	0.72032	D	0.01	-7.7474	8.1499	0.31134	0.1388:0.0:0.8612:0.0	.	276;276	Q9BQ39;B4DED6	DDX50_HUMAN;.	T	276	ENSP00000362687:S276T	ENSP00000362687:S276T	S	+	2	0	DDX50	70343222	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.046000	0.71029	2.530000	0.85305	0.462000	0.41574	AGT		0.393	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		C	70673216	G	C	70673216	3	2	355	1	0	0	0	0	1	0	0	0	4370	1029	36	4	849	4	DDX50	10	70673216	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10	27064863	70673216	64861531	31	20130											
SORCS1	114815	hgsc.bcm.edu;ucsc.edu	37	10	108447986	108447986	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr10:108447986G>T	ENST00000263054.6	-	10	1531	c.1524C>A	c.(1522-1524)gaC>gaA	p.D508E	SORCS1_ENST00000344440.6_Missense_Mutation_p.D508E|SORCS1_ENST00000369698.1_Missense_Mutation_p.D43E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	508					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTAGATCCGTGTCCGGCGCCT	0.478																																																0													110	100	103					10																	108447986		2203	4300	6503	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1524C>A	10.37:g.108447986G>T	ENSP00000263054:p.Asp508Glu		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316066	0.40996	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.32272	1.46;1.46;1.46	6.17	4.32	0.51571	VPS10 (1);	0.116222	0.64402	D	0.000010	T	0.19366	0.0465	N	0.20401	0.57	0.26209	N	0.979327	B;B;B;B;B	0.20550	0.009;0.046;0.016;0.027;0.046	B;B;B;B;B	0.24394	0.024;0.053;0.053;0.024;0.053	T	0.18681	-1.0329	9	.	.	.	-31.8376	10.5554	0.45114	0.2074:0.0:0.7926:0.0	.	508;508;508;508;508	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	E	43;508;508	ENSP00000358712:D43E;ENSP00000263054:D508E;ENSP00000345964:D508E	.	D	-	3	2	SORCS1	108437976	1.000000	0.71417	0.752000	0.31206	0.953000	0.61014	1.588000	0.36633	0.918000	0.36919	0.655000	0.94253	GAC		0.478	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		T	108447986	G	T	108447986	3	4	355	1	0	0	0	0	1	0	0	0	14936	1368	48	4	2284	4	SORCS1	10	108447986	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10	37774770	108447986	27086761	32	20131											
XPNPEP1	7511	hgsc.bcm.edu;ucsc.edu	37	10	111643872	111643874	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	GTG	GTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr10:111643872_111643874delGTG	ENST00000502935.1	-	9	900_902	c.781_783delCAC	c.(781-783)cacdel	p.H261del	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_In_Frame_Del_p.H147del|XPNPEP1_ENST00000369680.4_In_Frame_Del_p.H218del|XPNPEP1_ENST00000322238.8_In_Frame_Del_p.H261del					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		ATACTGGATTGTGCTCCACATCT	0.468											OREG0020527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001651	inframe_deletion	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.781_783delCAC	10.37:g.111643872_111643874delGTG	ENSP00000421566:p.His261del	1436		In_Frame_Del	DEL	ENST00000502935.1	37	CCDS7560.2																																																																																				0.468	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			-	111643874	GTG	-	111643872	7	5	355	1	0	1	0	1	0	0	0	0	17447	1368	48	0	1269	0	XPNPEP1	10	111643872	In_Frame_Del	DEL	GTG	TCGA-BP-4768-01A-01D-1366-10	3195886	111643872	23890875	33	20132											
PDZD8	118987	hgsc.bcm.edu;ucsc.edu	37	10	119043260	119043260	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr10:119043260T>C	ENST00000334464.5	-	5	3223	c.2984A>G	c.(2983-2985)aAc>aGc	p.N995S	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	995					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCTGTGCTGTTTCCCCGTTT	0.473																																																0													251	252	251					10																	119043260		2203	4300	6503	SO:0001583	missense	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2984A>G	10.37:g.119043260T>C	ENSP00000334642:p.Asn995Ser		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.624226	0.00117	.	.	ENSG00000165650	ENST00000334464	D	0.84800	-1.9	5.96	-1.42	0.08913	.	0.745300	0.13191	N	0.406747	T	0.57359	0.2048	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52931	-0.8509	10	0.05620	T	0.96	-10.9758	7.8347	0.29363	0.0:0.2735:0.4668:0.2597	.	995	Q8NEN9	PDZD8_HUMAN	S	995	ENSP00000334642:N995S	ENSP00000334642:N995S	N	-	2	0	PDZD8	119033250	0.000000	0.05858	0.173000	0.22940	0.959000	0.62525	-0.037000	0.12164	0.125000	0.18397	-0.256000	0.11100	AAC		0.473	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		C	119043260	T	C	119043260	3	2	355	1	0	0	0	0	1	0	0	0	11707	1725	60	3	484	3	PDZD8	10	119043260	Missense_Mutation	SNP	T	TCGA-BP-4768-01A-01D-1366-10	7399388	119043260	16491487	34	20133											
PTPN5	84867	hgsc.bcm.edu	37	11	18787397	18787397	+	Silent	SNP	G	G	T	rs528333442		TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr11:18787397G>T	ENST00000358540.2	-	3	484	c.54C>A	c.(52-54)tcC>tcA	p.S18S	PTPN5_ENST00000396168.1_5'UTR|PTPN5_ENST00000396171.4_Silent_p.S18S|PTPN5_ENST00000396170.1_Silent_p.S18S|PTPN5_ENST00000396167.2_Silent_p.S18S	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	18					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CCCCTCCCTCGGAGTCATCAG	0.552																																																0													64	51	56					11																	18787397		2198	4292	6490	SO:0001819	synonymous_variant	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.54C>A	11.37:g.18787397G>T			B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	ENST00000358540.2	37	CCDS7845.1																																																																																				0.552	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		T	18787397	G	T	18787397	2	4	355	1	0	0	0	0	0	0	0	1	12797	1103	39	4		4	PTPN5	11	18787397	Silent	SNP	G	TCGA-BP-4768-01A-01D-1366-10		18787397	116219119	35	20134											
NUP160	23279	hgsc.bcm.edu;ucsc.edu	37	11	47857324	47857324	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr11:47857324T>C	ENST00000378460.2	-	7	1026	c.980A>G	c.(979-981)tAt>tGt	p.Y327C	NUP160_ENST00000528071.1_Missense_Mutation_p.Y213C|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.Y213C	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	327					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CACAGGGACATACTCCAGCAT	0.448																																																0													164	144	150					11																	47857324		2201	4298	6499	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.980A>G	11.37:g.47857324T>C	ENSP00000367721:p.Tyr327Cys		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472819	0.63737	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.49720	0.77;0.77;0.77	5.38	1.2	0.21068	.	0.283582	0.35235	N	0.003346	T	0.55081	0.1898	L	0.51422	1.61	0.80722	D	1	D	0.65815	0.995	P	0.62885	0.908	T	0.50197	-0.8856	10	0.39692	T	0.17	.	10.9398	0.47266	0.5697:0.0:0.0:0.4303	.	327	Q12769	NU160_HUMAN	C	327;77;213;213	ENSP00000367721:Y327C;ENSP00000433590:Y213C;ENSP00000432367:Y213C	ENSP00000367721:Y327C	Y	-	2	0	NUP160	47813900	0.996000	0.38824	0.998000	0.56505	0.908000	0.53690	1.536000	0.36072	0.247000	0.21414	0.482000	0.46254	TAT		0.448	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		C	47857324	T	C	47857324	3	2	355	1	0	0	0	0	1	0	0	0	10759	1406	49	3	3450	3	NUP160	11	47857324	Missense_Mutation	SNP	T	TCGA-BP-4768-01A-01D-1366-10	29069927	47857324	87149192	36	20135											
CDCA5	113130	hgsc.bcm.edu	37	11	64846929	64846929	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr11:64846929G>A	ENST00000275517.3	-	5	746	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	CDCA5_ENST00000404147.3_Missense_Mutation_p.P192S	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	192					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAAACCCTGGGGACCTCGGTG	0.597																																																0													63	71	68					11																	64846929		2201	4297	6498	SO:0001583	missense	113130			BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"sororin"	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.574C>T	11.37:g.64846929G>A	ENSP00000275517:p.Pro192Ser		A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	G	6.154	0.396564	0.11638	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.42131	0.98;0.98	5.52	-0.321	0.12717	.	0.504675	0.22458	N	0.059786	T	0.31389	0.0795	M	0.70595	2.14	0.09310	N	1	B	0.28419	0.211	B	0.25614	0.062	T	0.14671	-1.0464	10	0.29301	T	0.29	.	1.6958	0.02862	0.1653:0.1183:0.2942:0.4222	.	192	Q96FF9	CDCA5_HUMAN	S	192	ENSP00000275517:P192S;ENSP00000385711:P192S	ENSP00000275517:P192S	P	-	1	0	CDCA5	64603505	0.918000	0.31147	0.016000	0.15963	0.048000	0.14542	0.457000	0.21875	-0.033000	0.13736	-0.182000	0.12963	CCC		0.597	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		A	64846929	G	A	64846929	3	1	355	1	0	0	0	0	1	0	0	0	3091	1232	43	2	192	2	CDCA5	11	64846929	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10	16989605	64846929	70159587	37	20136											
PAAF1	80227	hgsc.bcm.edu;ucsc.edu	37	11	73620605	73620605	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr11:73620605T>A	ENST00000310571.3	+	7	747	c.694T>A	c.(694-696)Tcc>Acc	p.S232T	PAAF1_ENST00000541951.1_Missense_Mutation_p.S117T|PAAF1_ENST00000544909.1_Missense_Mutation_p.S233T|PAAF1_ENST00000536003.1_Missense_Mutation_p.S215T|PAAF1_ENST00000544552.1_Missense_Mutation_p.S215T|PAAF1_ENST00000535604.1_Missense_Mutation_p.S117T|PAAF1_ENST00000376384.5_Missense_Mutation_p.S215T	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	232					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGCTGACAACTCCATAAACCT	0.488																																																0													155	139	145					11																	73620605		2200	4293	6493	SO:0001583	missense	80227			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"WD repeat domain containing"	25687	protein-coding gene	gene with protein product			"WD repeat domain 71"	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.694T>A	11.37:g.73620605T>A	ENSP00000311665:p.Ser232Thr		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	CCDS8226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.336|8.336	0.827675|0.827675	0.16749|0.16749	.|.	.|.	ENSG00000175575|ENSG00000175575	ENST00000540659|ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000544909	.|T;T;T;T;T;T;T;T;T;T	.|0.80393	.|1.17;1.17;-1.37;-1.37;1.17;1.17;1.17;2.3;1.17;1.17	5.06|5.06	5.06|5.06	0.68205|0.68205	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.093731	.|0.47455	.|D	.|0.000233	T|T	0.78052|0.78052	0.4223|0.4223	L|L	0.50333|0.50333	1.59|1.59	0.30005|0.30005	N|N	0.815661|0.815661	.|D;B	.|0.54964	.|0.969;0.001	.|P;B	.|0.51895	.|0.683;0.0	T|T	0.71052|0.71052	-0.4704|-0.4704	5|10	.|0.08381	.|T	.|0.77	-7.397|-7.397	9.9149|9.9149	0.41427|0.41427	0.0:0.0:0.1712:0.8288|0.0:0.0:0.1712:0.8288	.|.	.|215;232	.|Q9BRP4-2;Q9BRP4	.|.;PAAF1_HUMAN	H|T	72|117;232;215;215;117;215;215;96;215;233	.|ENSP00000441333:S117T;ENSP00000311665:S232T;ENSP00000439747:S215T;ENSP00000438894:S215T;ENSP00000438789:S117T;ENSP00000438124:S215T;ENSP00000441494:S215T;ENSP00000439877:S96T;ENSP00000365564:S215T;ENSP00000438071:S233T	.|ENSP00000311665:S232T	L|S	+|+	2|1	0|0	PAAF1|PAAF1	73298253|73298253	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.109000|0.109000	0.19521|0.19521	1.350000|1.350000	0.34010|0.34010	1.922000|1.922000	0.55676|0.55676	0.459000|0.459000	0.35465|0.35465	CTC|TCC		0.488	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		A	73620605	T	A	73620605	3	1	355	1	0	0	0	0	1	0	0	0	11364	1551	54	5	720	5	PAAF1	11	73620605	Missense_Mutation	SNP	T	TCGA-BP-4768-01A-01D-1366-10	8773676	73620605	61385911	38	20137											
MMP27	64066	hgsc.bcm.edu;ucsc.edu	37	11	102564646	102564646	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr11:102564646C>A	ENST00000260229.4	-	8	1275	c.1184G>T	c.(1183-1185)tGg>tTg	p.W395L		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	395					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CCTCCAGCACCAAATGCCCAC	0.358																																																0													114	108	110					11																	102564646		2203	4299	6502	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1184G>T	11.37:g.102564646C>A	ENSP00000260229:p.Trp395Leu		Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973281	0.34848	.	.	ENSG00000137675	ENST00000260229	T	0.02369	4.32	4.79	3.8	0.43715	Hemopexin/matrixin (2);	0.309234	0.23468	N	0.047849	T	0.01489	0.0048	N	0.03194	-0.395	0.26601	N	0.973021	B	0.11235	0.004	B	0.04013	0.001	T	0.41610	-0.9499	10	0.56958	D	0.05	.	6.6219	0.22808	0.0:0.7219:0.0:0.2781	.	395	Q9H306	MMP27_HUMAN	L	395	ENSP00000260229:W395L	ENSP00000260229:W395L	W	-	2	0	MMP27	102069856	0.003000	0.15002	1.000000	0.80357	0.995000	0.86356	1.363000	0.34159	2.467000	0.83353	0.655000	0.94253	TGG		0.358	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		A	102564646	C	A	102564646	3	1	355	1	0	0	0	0	1	0	0	0	9666	595	21	4	369	4	MMP27	11	102564646	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10	28944041	102564646	32441870	39	20138											
DDX23	9416	hgsc.bcm.edu;ucsc.edu	37	12	49233687	49233687	+	Silent	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr12:49233687C>T	ENST00000308025.3	-	5	499	c.420G>A	c.(418-420)caG>caA	p.Q140Q	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	140	Glu-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GGGATAATGGCTGGGCCTGAA	0.458																																																0													99	97	97					12																	49233687		2203	4300	6503	SO:0001819	synonymous_variant	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.420G>A	12.37:g.49233687C>T			B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	CCDS8770.1																																																																																				0.458	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		T	49233687	C	T	49233687	2	4	355	1	0	0	0	0	0	0	0	1	4352	796	28	2		2	DDX23	12	49233687	Silent	SNP	C	TCGA-BP-4768-01A-01D-1366-10		49233687	84618208	40	20139											
KRT86	3892	hgsc.bcm.edu;ucsc.edu	37	12	52695702	52695703	+	Start_Codon_Ins	INS	-	-	G			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr12:52695702_52695703insG	ENST00000423955.2	+	0	180_181				KRT86_ENST00000293525.5_Start_Codon_Ins|KRT86_ENST00000544024.1_Start_Codon_Ins			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		AAAAGCACCATGACTTGTGGAT	0.634																																																0																																										SO:0001582	initiator_codon_variant	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.3dupG	12.37:g.52695703_52695703dupG			P78387	Frame_Shift_Ins	INS	ENST00000423955.2	37	CCDS41785.1																																																																																				0.634	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		G	52695703	-	G	52695702	7	5	355	1	0	1	1	0	0	0	0	0	8502	1464	51	0	4	0	KRT86	12	52695702	Start_Codon_Ins	INS	-	TCGA-BP-4768-01A-01D-1366-10	3462015	52695702	81156193	41	20140											
ANKRD52	283373	hgsc.bcm.edu	37	12	56646070	56646070	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr12:56646070C>T	ENST00000267116.7	-	14	1521	c.1400G>A	c.(1399-1401)gGt>gAt	p.G467D		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	467										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CTGGTAGCTACCGTTAGCAGC	0.557																																																0													70	72	72					12																	56646070		2031	4184	6215	SO:0001583	missense	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1400G>A	12.37:g.56646070C>T	ENSP00000267116:p.Gly467Asp		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711119	0.89112	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.73897	-0.79	5.3	5.3	0.74995	Ankyrin repeat-containing domain (4);	0.113307	0.64402	D	0.000014	D	0.84397	0.5463	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.83465	0.0056	10	0.38643	T	0.18	.	18.1167	0.89558	0.0:1.0:0.0:0.0	.	467	Q8NB46	ANR52_HUMAN	D	467	ENSP00000267116:G467D	ENSP00000267116:G467D	G	-	2	0	ANKRD52	54932337	1.000000	0.71417	0.982000	0.44146	0.971000	0.66376	7.716000	0.84723	2.655000	0.90218	0.557000	0.71058	GGT		0.557	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		T	56646070	C	T	56646070	3	4	355	1	0	0	0	0	1	0	0	0	678	507	18	2	1890	2	ANKRD52	12	56646070	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10	3950368	56646070	77205825	42	20141											
TGM1	7051	hgsc.bcm.edu;ucsc.edu	37	14	24727575	24727575	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr14:24727575C>T	ENST00000206765.6	-	9	1441	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	440					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ATCCAGCAGTCGTTCCACACA	0.637																																																0													48	47	47					14																	24727575		2203	4300	6503	SO:0001583	missense	7051			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1318G>A	14.37:g.24727575C>T	ENSP00000206765:p.Asp440Asn		B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887233	0.72410	.	.	ENSG00000092295	ENST00000206765	D	0.95756	-3.8	4.91	4.91	0.64330	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.97504	0.9183	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.98050	1.0387	10	0.87932	D	0	-44.8672	15.6389	0.76981	0.0:1.0:0.0:0.0	.	440	P22735	TGM1_HUMAN	N	440	ENSP00000206765:D440N	ENSP00000206765:D440N	D	-	1	0	TGM1	23797415	1.000000	0.71417	0.974000	0.42286	0.446000	0.32137	7.606000	0.82863	2.565000	0.86533	0.561000	0.74099	GAC		0.637	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		T	24727575	C	T	24727575	3	4	355	1	0	0	0	0	1	0	0	0	15834	884	31	1	1163	1	TGM1	14	24727575	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10		24727575	82621965	43	20142											
CPSF2	53981	hgsc.bcm.edu;ucsc.edu	37	14	92624218	92624218	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr14:92624218A>T	ENST00000298875.4	+	13	2096	c.1811A>T	c.(1810-1812)cAc>cTc	p.H604L		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	604					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AGTGAAACTCACATCTACCAG	0.418																																					Ovarian(78;28 1788 18702 44111)											0													63	64	64					14																	92624218		2203	4300	6503	SO:0001583	missense	53981			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1811A>T	14.37:g.92624218A>T	ENSP00000298875:p.His604Leu		B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	CCDS9902.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.939443|3.939443	0.73557|0.73557	.|.	.|.	ENSG00000165934|ENSG00000165934	ENST00000298875|ENST00000555244	T|.	0.43688|.	0.94|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74245|0.74245	0.3691|0.3691	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	P|.	0.39424|.	0.673|.	P|.	0.44732|.	0.459|.	T|T	0.74194|0.74194	-0.3744|-0.3744	10|5	0.42905|.	T|.	0.14|.	.|.	16.0499|16.0499	0.80749|0.80749	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	604|.	Q9P2I0|.	CPSF2_HUMAN|.	L|S	604|121	ENSP00000298875:H604L|.	ENSP00000298875:H604L|.	H|T	+|+	2|1	0|0	CPSF2|CPSF2	91693971|91693971	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.843000|0.843000	0.47879|0.47879	7.220000|7.220000	0.78008|0.78008	2.193000|2.193000	0.70182|0.70182	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.418	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			T	92624218	A	T	92624218	3	4	355	1	0	0	0	0	1	0	0	0	3827	159	6	5	1853	5	CPSF2	14	92624218	Missense_Mutation	SNP	A	TCGA-BP-4768-01A-01D-1366-10	67896643	92624218	14725322	44	20143											
WDR76	79968	hgsc.bcm.edu;ucsc.edu	37	15	44136119	44136119	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr15:44136119G>T	ENST00000263795.6	+	8	969	c.899G>T	c.(898-900)gGc>gTc	p.G300V	WDR76_ENST00000381246.2_Missense_Mutation_p.G236V	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	300										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AATTTAAATGGCATGGTCATT	0.328																																																0													58	57	58					15																	44136119		2198	4298	6496	SO:0001583	missense	79968			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"WD repeat domain containing"	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.899G>T	15.37:g.44136119G>T	ENSP00000263795:p.Gly300Val		A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498758	0.44455	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	D;D	0.83419	-1.72;-1.71	5.75	3.88	0.44766	.	0.395096	0.29956	N	0.010776	T	0.79575	0.4469	M	0.77820	2.39	0.50171	D	0.999857	P	0.36683	0.565	B	0.35353	0.201	T	0.74589	-0.3615	10	0.36615	T	0.2	-10.5299	6.1145	0.20120	0.1658:0.1548:0.6794:0.0	.	300	Q9H967	WDR76_HUMAN	V	300;236	ENSP00000263795:G300V;ENSP00000370645:G236V	ENSP00000263795:G300V	G	+	2	0	WDR76	41923411	0.102000	0.21896	1.000000	0.80357	0.946000	0.59487	0.643000	0.24750	0.781000	0.33589	0.455000	0.32223	GGC		0.328	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		T	44136119	G	T	44136119	3	4	355	1	0	0	0	0	1	0	0	0	17331	1203	42	4	929	4	WDR76	15	44136119	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10		44136119	58395273	45	20144											
ATP8B4	79895	hgsc.bcm.edu;ucsc.edu	37	15	50154547	50154547	+	Silent	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr15:50154547C>T	ENST00000284509.6	-	27	3333	c.3192G>A	c.(3190-3192)caG>caA	p.Q1064Q	ATP8B4_ENST00000559829.1_Silent_p.Q1064Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1064						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGATGCACTTCTGGGTCAGGG	0.388																																																0													89	82	85					15																	50154547		2196	4295	6491	SO:0001819	synonymous_variant	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3192G>A	15.37:g.50154547C>T			Q9H727	Silent	SNP	ENST00000284509.6	37	CCDS32238.1																																																																																				0.388	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		T	50154547	C	T	50154547	2	4	355	1	0	0	0	0	0	0	0	1	1197	912	32	2		2	ATP8B4	15	50154547	Silent	SNP	C	TCGA-BP-4768-01A-01D-1366-10	6018428	50154547	52376845	46	20145											
ZNF598	90850	hgsc.bcm.edu	37	16	2052325	2052325	+	Silent	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr16:2052325C>T	ENST00000563630.1	-	5	854	c.612G>A	c.(610-612)gaG>gaA	p.E204E	ZNF598_ENST00000431526.1_Silent_p.E259E|ZNF598_ENST00000562103.1_Silent_p.E204E			Q86UK7	ZN598_HUMAN	zinc finger protein 598	259							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGAGGTCGATCTCGGTGCGGA	0.657																																																0													61	71	68					16																	2052325		2167	4242	6409	SO:0001819	synonymous_variant	90850			BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.612G>A	16.37:g.2052325C>T			Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37																																																																																					0.657	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		T	2052325	C	T	2052325	2	4	355	1	0	0	0	0	0	0	0	1	18033	912	32	2		2	ZNF598	16	2052325	Silent	SNP	C	TCGA-BP-4768-01A-01D-1366-10		2052325	88302428	47	20146											
KDM6B	23135	hgsc.bcm.edu	37	17	7755027	7755027	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr17:7755027G>T	ENST00000448097.2	+	17	4409	c.4078G>T	c.(4078-4080)Ggc>Tgc	p.G1360C	KDM6B_ENST00000254846.5_Missense_Mutation_p.G1360C			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1360	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AACATCCACGGGCAACATGCT	0.662											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													18	18	18					17																	7755027		2182	4279	6461	SO:0001583	missense	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.4078G>T	17.37:g.7755027G>T	ENSP00000412513:p.Gly1360Cys	644	C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	G	18.71	3.681312	0.68042	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.72725	-0.68;-0.68	5.12	5.12	0.69794	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.116385	0.56097	D	0.000029	T	0.82061	0.4955	L	0.58669	1.825	0.80722	D	1	B;D	0.89917	0.431;1.0	B;D	0.78314	0.253;0.991	T	0.83202	-0.0078	10	0.87932	D	0	-16.5003	17.8586	0.88773	0.0:0.0:1.0:0.0	.	1360;1360	O15054;O15054-1	KDM6B_HUMAN;.	C	1360	ENSP00000254846:G1360C;ENSP00000412513:G1360C	ENSP00000254846:G1360C	G	+	1	0	KDM6B	7695752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.377000	0.79668	2.834000	0.97654	0.650000	0.86243	GGC		0.662	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		T	7755027	G	T	7755027	3	4	355	1	0	0	0	0	1	0	0	0	8140	1232	43	4	4132	4	KDM6B	17	7755027	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10		7755027	73440183	48	20147											
MC2R	4158	hgsc.bcm.edu;ucsc.edu	37	18	13885200	13885200	+	Silent	SNP	G	G	T	rs147706299	byFrequency	TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr18:13885200G>T	ENST00000327606.3	-	2	498	c.318C>A	c.(316-318)atC>atA	p.I106I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	106					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACAGGGAGTCGATGATGTCAT	0.498																																					Colon(141;1584 1782 35999 48227 48692)											0													121	87	99					18																	13885200		2203	4300	6503	SO:0001819	synonymous_variant	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.318C>A	18.37:g.13885200G>T			A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	CCDS11869.1																																																																																				0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			T	13885200	G	T	13885200	2	4	355	1	0	0	0	0	0	0	0	1	9366	1048	37	4		4	MC2R	18	13885200	Silent	SNP	G	TCGA-BP-4768-01A-01D-1366-10		13885200	64192048	49	20148											
SMAD4	4089	hgsc.bcm.edu	37	18	48604770	48604770	+	Missense_Mutation	SNP	G	G	A	rs377767378		TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr18:48604770G>A	ENST00000342988.3	+	12	2130	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.R531Q|SMAD4_ENST00000588745.1_Missense_Mutation_p.R435Q	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	531	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CACTTACACCGGGCCCTCCAG	0.478																																																38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											83	84	84					18																	48604770		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1592G>A	18.37:g.48604770G>A	ENSP00000341551:p.Arg531Gln		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796503	0.90453	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98822	-5.16;-5.16	6.07	6.07	0.98685	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99338	1.0911	10	0.46703	T	0.11	.	19.4308	0.94765	0.0:0.0:1.0:0.0	.	531	Q13485	SMAD4_HUMAN	Q	531	ENSP00000341551:R531Q;ENSP00000381452:R531Q	ENSP00000341551:R531Q	R	+	2	0	SMAD4	46858768	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.633000	0.98432	2.885000	0.99019	0.655000	0.94253	CGG		0.478	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		A	48604770	G	A	48604770	3	1	355	1	0	0	0	0	1	0	0	0	14766	1116	39	1	1634	1	SMAD4	18	48604770	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10	34719570	48604770	29472478	50	20149											
ZNF407	55628	hgsc.bcm.edu;ucsc.edu	37	18	72345311	72345311	+	Missense_Mutation	SNP	G	G	T	rs535825447		TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr18:72345311G>T	ENST00000299687.5	+	1	2336	c.2336G>T	c.(2335-2337)tGt>tTt	p.C779F	ZNF407_ENST00000309902.6_Missense_Mutation_p.C779F|ZNF407_ENST00000582337.1_Missense_Mutation_p.C779F|ZNF407_ENST00000577538.1_Missense_Mutation_p.C779F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAAAGGGTATGTATAGGTGCA	0.338																																																0													106	105	106					18																	72345311		1850	4093	5943	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2336G>T	18.37:g.72345311G>T	ENSP00000299687:p.Cys779Phe		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757046	0.49468	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.12361	2.69;3.15	5.71	4.84	0.62591	.	0.326301	0.18810	U	0.130531	T	0.17704	0.0425	N	0.14661	0.345	0.39052	D	0.960348	P;D;P	0.67145	0.923;0.996;0.875	B;D;B	0.64321	0.375;0.924;0.307	T	0.03354	-1.1045	10	0.09843	T	0.71	.	14.8007	0.69913	0.0693:0.0:0.9307:0.0	.	779;779;779	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	F	779	ENSP00000299687:C779F;ENSP00000310359:C779F	ENSP00000299687:C779F	C	+	2	0	ZNF407	70474299	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.680000	0.54641	0.084000	0.17077	0.377000	0.23210	TGT		0.338	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		T	72345311	G	T	72345311	3	4	355	1	0	0	0	0	1	0	0	0	17892	1377	48	4	2338	4	ZNF407	18	72345311	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10	23740541	72345311	5731937	51	20150											
APBA3	9546	hgsc.bcm.edu	37	19	3754020	3754020	+	Silent	SNP	G	G	C	rs61731066	byFrequency	TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr19:3754020G>C	ENST00000316757.3	-	5	1046	c.846C>G	c.(844-846)tcC>tcG	p.S282S	AC005954.3_ENST00000591962.1_RNA|AC005954.4_ENST00000586503.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	282	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGTACCTGGGAGTCCGCTG	0.706													G|||	86	0.0171725	0.0091	0.036	5008	,	,		12207	0.0		0.0308	False		,,,				2504	0.0184															0								G		41,4365	35.2+/-66.4	0,41,2162	27	25	26		846	1.7	1	19	dbSNP_129	26	286,8314	97.2+/-158.9	4,278,4018	no	coding-synonymous	APBA3	NM_004886.3		4,319,6180	CC,CG,GG		3.3256,0.9305,2.5142		282/576	3754020	327,12679	2203	4300	6503	SO:0001819	synonymous_variant	9546			AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.846C>G	19.37:g.3754020G>C			O60483|Q9UPZ2	Silent	SNP	ENST00000316757.3	37	CCDS12110.1																																																																																				0.706	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			C	3754020	G	C	3754020	2	2	355	1	0	0	0	0	0	0	0	1	758	1219	43	4		4	APBA3	19	3754020	Silent	SNP	G	TCGA-BP-4768-01A-01D-1366-10		3754020	55374963	52	20151											
CHAF1A	10036	hgsc.bcm.edu	37	19	4428837	4428837	+	Silent	SNP	G	G	A	rs373495353		TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr19:4428837G>A	ENST00000301280.5	+	8	1655	c.1554G>A	c.(1552-1554)ctG>ctA	p.L518L	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	518					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGCCCCTGAGGTCCGGAC	0.592								Chromatin Structure																																								0													36	40	39					19																	4428837		2203	4300	6503	SO:0001819	synonymous_variant	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1554G>A	19.37:g.4428837G>A			Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	CCDS32875.1																																																																																				0.592	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		A	4428837	G	A	4428837	2	1	355	1	0	0	0	0	0	0	0	1	3313	1277	45	2		2	CHAF1A	19	4428837	Silent	SNP	G	TCGA-BP-4768-01A-01D-1366-10	674817	4428837	54700146	53	20152											
TRIP10	9322	hgsc.bcm.edu;ucsc.edu	37	19	6750048	6750048	+	Missense_Mutation	SNP	C	C	G	rs541652162		TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr19:6750048C>G	ENST00000313244.9	+	12	1401	c.1366C>G	c.(1366-1368)Cgg>Ggg	p.R456G	TRIP10_ENST00000600428.1_Missense_Mutation_p.R292G|TRIP10_ENST00000596758.1_Missense_Mutation_p.R400G|TRIP10_ENST00000313285.8_Missense_Mutation_p.R400G|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	456	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CAACATTGAACGGCTGAAATT	0.587																																																0													60	68	65					19																	6750048		2203	4300	6503	SO:0001583	missense	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1366C>G	19.37:g.6750048C>G	ENSP00000320117:p.Arg456Gly		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37		.	.	.	.	.	.	.	.	.	.	C	12.95	2.092863	0.36952	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.76968	-1.06;-1.06	4.98	-5.64	0.02466	.	0.066496	0.56097	D	0.000024	D	0.85017	0.5601	M	0.75264	2.295	0.20926	N	0.999829	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.91635	0.989;0.968;0.999	T	0.81870	-0.0734	10	0.87932	D	0	-27.0339	17.7958	0.88570	0.8493:0.1507:0.0:0.0	.	400;456;400	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	G	400;456;400	ENSP00000320493:R400G;ENSP00000320117:R456G	ENSP00000320117:R456G	R	+	1	2	TRIP10	6701048	0.005000	0.15991	0.008000	0.14137	0.080000	0.17528	-0.016000	0.12613	-0.763000	0.04658	0.313000	0.20887	CGG		0.587	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			G	6750048	C	G	6750048	3	3	355	1	0	0	0	0	1	0	0	0	16559	527	19	4	1240	4	TRIP10	19	6750048	Missense_Mutation	SNP	C	TCGA-BP-4768-01A-01D-1366-10	2321211	6750048	52378935	54	20153											
NOTCH3	4854	hgsc.bcm.edu	37	19	15300136	15300136	+	Silent	SNP	A	A	G	rs61749020	byFrequency	TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr19:15300136A>G	ENST00000263388.2	-	7	1215	c.1140T>C	c.(1138-1140)ccT>ccC	p.P380P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	380	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGAAGCCGGGAGGACAGGTGC	0.602													A|||	76	0.0151757	0.0212	0.0173	5008	,	,		16950	0.0		0.0229	False		,,,				2504	0.0133															0								A		83,4323	69.2+/-107.0	1,81,2121	82	84	83		1140	-5	0	19	dbSNP_129	83	327,8273	112.0+/-172.2	8,311,3981	no	coding-synonymous	NOTCH3	NM_000435.2		9,392,6102	GG,GA,AA		3.8023,1.8838,3.1524		380/2322	15300136	410,12596	2203	4300	6503	SO:0001819	synonymous_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1140T>C	19.37:g.15300136A>G			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																				0.602	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		G	15300136	A	G	15300136	2	3	355	1	0	0	0	0	0	0	0	1	10552	291	11	3		3	NOTCH3	19	15300136	Silent	SNP	A	TCGA-BP-4768-01A-01D-1366-10	8550088	15300136	43828847	55	20154											
JAK3	3718	hgsc.bcm.edu	37	19	17945471	17945471	+	Silent	SNP	G	G	A	rs35458530	byFrequency	TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr19:17945471G>A	ENST00000527670.1	-	16	2288	c.2259C>T	c.(2257-2259)gcC>gcT	p.A753A	JAK3_ENST00000534444.1_Silent_p.A753A|JAK3_ENST00000458235.1_Silent_p.A753A			P52333	JAK3_HUMAN	Janus kinase 3	753	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GAATCAGCAGGGCCAGCTCTG	0.582		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								G|||	23	0.00459265	0.003	0.0058	5008	,	,		14422	0.0		0.0129	False		,,,				2504	0.002						Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0								G		8,4398	12.9+/-30.5	0,8,2195	52	60	58		2259	-0.1	0.1	19	dbSNP_126	58	117,8483	59.1+/-120.7	0,117,4183	no	coding-synonymous	JAK3	NM_000215.3		0,125,6378	AA,AG,GG		1.3605,0.1816,0.9611		753/1125	17945471	125,12881	2203	4300	6503	SO:0001819	synonymous_variant	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2259C>T	19.37:g.17945471G>A			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	CCDS12366.1																																																																																				0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		A	17945471	G	A	17945471	2	1	355	1	0	0	0	0	0	0	0	1	7941	1219	43	2		2	JAK3	19	17945471	Silent	SNP	G	TCGA-BP-4768-01A-01D-1366-10	2645335	17945471	41183512	56	20155											
CDK5RAP1	51654	hgsc.bcm.edu	37	20	31946927	31946927	+	Silent	SNP	G	G	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr20:31946927G>T	ENST00000357886.4	-	15	1881	c.1728C>A	c.(1726-1728)atC>atA	p.I576I	CDK5RAP1_ENST00000473997.1_Silent_p.I472I|CDK5RAP1_ENST00000339269.5_Silent_p.I485I|CDK5RAP1_ENST00000346416.2_Silent_p.I562I			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	576	CDK5R1-binding.|TRAM.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TGGCTGAGGTGATCTGAAAGA	0.507																																																0													102	94	97					20																	31946927		2203	4300	6503	SO:0001819	synonymous_variant	51654			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1728C>A	20.37:g.31946927G>T			A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	37		.	.	.	.	.	.	.	.	.	.	G	4.524	0.097250	0.08681	.	.	ENSG00000101391	ENST00000427097	.	.	.	5.2	2.23	0.28157	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.987	4.0535	0.09806	0.2574:0.0:0.579:0.1636	.	.	.	.	X	231	.	.	S	-	2	0	CDK5RAP1	31410588	1.000000	0.71417	0.978000	0.43139	0.248000	0.25809	0.329000	0.19698	0.449000	0.26747	0.655000	0.94253	TCA		0.507	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		T	31946927	G	T	31946927	2	4	355	1	0	0	0	0	0	0	0	1	3147	1280	45	4		4	CDK5RAP1	20	31946927	Silent	SNP	G	TCGA-BP-4768-01A-01D-1366-10		31946927	31078593	57	20156											
BCAS1	8537	hgsc.bcm.edu;ucsc.edu	37	20	52583461	52583461	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr20:52583461G>A	ENST00000395961.3	-	9	1500	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	BCAS1_ENST00000371440.3_Missense_Mutation_p.A476V|BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	445						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCTGAGAAACGCCATCAGAGA	0.483																																																0													225	218	221					20																	52583461		2203	4300	6503	SO:0001583	missense	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1334C>T	20.37:g.52583461G>A	ENSP00000379290:p.Ala445Val		A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945381	0.34377	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000395961	T;T;T	0.08458	3.09;3.09;3.09	5.81	4.78	0.61160	.	0.777423	0.12428	N	0.469784	T	0.12263	0.0298	M	0.61703	1.905	0.80722	D	1	D;P;P	0.56287	0.975;0.919;0.919	P;B;B	0.46299	0.511;0.259;0.259	T	0.02026	-1.1227	10	0.37606	T	0.19	-10.1778	6.7348	0.23403	0.1436:0.0:0.8564:0.0	.	445;445;445	B2RCQ5;A0AVG7;O75363	.;.;BCAS1_HUMAN	V	338;476;445	ENSP00000396361:A338V;ENSP00000360495:A476V;ENSP00000379290:A445V	ENSP00000360495:A476V	A	-	2	0	BCAS1	52016868	0.558000	0.26554	0.988000	0.46212	0.801000	0.45260	1.392000	0.34486	2.736000	0.93811	0.655000	0.94253	GCG		0.483	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		A	52583461	G	A	52583461	3	1	355	1	0	0	0	0	1	0	0	0	1350	1087	38	1	436	1	BCAS1	20	52583461	Missense_Mutation	SNP	G	TCGA-BP-4768-01A-01D-1366-10	20636534	52583461	10442059	58	20157											
MORC2	22880	hgsc.bcm.edu;ucsc.edu	37	22	31346363	31346363	+	Splice_Site	SNP	T	T	A			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr22:31346363T>A	ENST00000397641.3	-	4	634	c.226A>T	c.(226-228)Agt>Tgt	p.S76C	MORC2_ENST00000215862.4_Splice_Site_p.S14C			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	76						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CATCACTTACTTGGATCCATT	0.438																																																0													88	80	83					22																	31346363		2203	4300	6503	SO:0001630	splice_region_variant	22880			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.226+1A>T	22.37:g.31346363T>A			B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37		.	.	.	.	.	.	.	.	.	.	T	22.0	4.229065	0.79688	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.74421	-0.84;-0.84	5.65	5.65	0.86999	ATPase-like, ATP-binding domain (4);	0.232527	0.50627	D	0.000116	T	0.74764	0.3759	M	0.62723	1.935	0.80722	D	1	P	0.50710	0.938	P	0.46758	0.526	T	0.75695	-0.3228	9	.	.	.	.	12.1154	0.53861	0.0:0.0:0.1432:0.8568	.	76	Q9Y6X9	MORC2_HUMAN	C	76;14	ENSP00000380763:S76C;ENSP00000215862:S14C	.	S	-	1	0	MORC2	29676363	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.423000	0.59861	2.157000	0.67596	0.528000	0.53228	AGT		0.438	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941	Missense_Mutation	A	31346363	T	A	31346363	5	1	355	1	0	0	0	0	0	0	1	0	9704	1623	56	5	2964	5	MORC2	22	31346363	Splice_Site	SNP	T	TCGA-BP-4768-01A-01D-1366-10		31346363	19958203	59	20158											
CACNA1I	8911	hgsc.bcm.edu	37	22	39966976	39966976	+	Silent	SNP	C	C	T			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chr22:39966976C>T	ENST00000402142.3	+	1	219	c.219C>T	c.(217-219)atC>atT	p.I73I	CACNA1I_ENST00000400164.3_Silent_p.I73I|CACNA1I_ENST00000404898.1_Silent_p.I73I|CACNA1I_ENST00000336649.4_Silent_p.I73I|CACNA1I_ENST00000407673.1_Silent_p.I73I|CACNA1I_ENST00000401624.1_Silent_p.I73I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	73					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.I73M(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTGGTGCATCAAGATGGTGT	0.622																																																1	Substitution - Missense(1)	breast(1)											72	79	77					22																	39966976		2099	4207	6306	SO:0001819	synonymous_variant	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.219C>T	22.37:g.39966976C>T			B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	CCDS46710.1																																																																																				0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		T	39966976	C	T	39966976	2	4	355	1	0	0	0	0	0	0	0	1	2548	816	29	2		2	CACNA1I	22	39966976	Silent	SNP	C	TCGA-BP-4768-01A-01D-1366-10	8620613	39966976	11337590	60	20159											
ASB11	140456	hgsc.bcm.edu;ucsc.edu	37	X	15320875	15320875	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4768-01A-01D-1366-10	TCGA-BP-4768-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	402c7965-466c-4117-a3c6-3e26aabd0ece	4ebf48fe-dd53-40aa-b19f-a8a21d1b0329	g.chrX:15320875A>G	ENST00000480796.1	-	2	286	c.236T>C	c.(235-237)cTg>cCg	p.L79P	ASB11_ENST00000344384.4_Missense_Mutation_p.L58P|ASB11_ENST00000537676.1_Missense_Mutation_p.L58P|ASB11_ENST00000380470.3_Missense_Mutation_p.L79P			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	79					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					TTTAAGGGCCAGTAAGCGCCC	0.433																																																0													89	80	83					X																	15320875		2203	4300	6503	SO:0001583	missense	140456			AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"Ankyrin repeat domain containing"	17186	protein-coding gene	gene with protein product		300626	"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.236T>C	X.37:g.15320875A>G	ENSP00000417914:p.Leu79Pro		E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100189	0.76983	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.63913	-0.07;0.68;-0.07;-0.07	5.69	5.69	0.88448	Ankyrin repeat-containing domain (4);	0.000000	0.51477	D	0.000091	T	0.61974	0.2390	N	0.10809	0.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.64283	-0.6444	10	0.30854	T	0.27	-8.6778	13.6886	0.62531	1.0:0.0:0.0:0.0	.	79;79;58	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	P	58;79;58;79	ENSP00000445465:L58P;ENSP00000369837:L79P;ENSP00000343408:L58P;ENSP00000417914:L79P	ENSP00000343408:L58P	L	-	2	0	ASB11	15230796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.598000	0.82745	1.912000	0.55364	0.486000	0.48141	CTG		0.433	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			G	15320875	A	G	15320875	3	3	355	1	0	0	0	0	1	0	0	0	1015	188	7	3	759	3	ASB11	23	15320875	Missense_Mutation	SNP	A	TCGA-BP-4768-01A-01D-1366-10		15320875	139949685	61	20160											
TNR	7143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	175323627	175323627	+	Silent	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr1:175323627A>T	ENST00000367674.2	-	18	3990	c.3282T>A	c.(3280-3282)atT>atA	p.I1094I	TNR_ENST00000263525.2_Silent_p.I1094I			Q92752	TENR_HUMAN	tenascin R	1094	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.I1094I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTCCAGTCGAATCCAGGTGT	0.547																																																1	Substitution - coding silent(1)	kidney(1)											174	151	159					1																	175323627		2203	4300	6503	SO:0001819	synonymous_variant	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3282T>A	1.37:g.175323627A>T			C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.547	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175323627	A	T	175323627	2	4	356	1	0	0	0	0	0	0	0	1	16343	242	9	5		5	TNR	1	175323627	Silent	SNP	A	TCGA-BP-4770-01A-01D-1501-10		175323627	73926994	1	20161											
OR2T4	127074	broad.mit.edu;hgsc.bcm.edu	37	1	248525734	248525734	+	Silent	SNP	T	T	C	rs138844789		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr1:248525734T>C	ENST00000366475.1	+	1	852	c.852T>C	c.(850-852)taT>taC	p.Y284Y		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y284Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTCTTCTATGGGGCTGCCA	0.547																																																1	Substitution - coding silent(1)	kidney(1)						T		1,4405	2.1+/-5.4	0,1,2202	159	153	155		852	0.6	1	1	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous	OR2T4	NM_001004696.1		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		284/349	248525734	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.852T>C	1.37:g.248525734T>C			Q6IEZ8	Silent	SNP	ENST00000366475.1	37	CCDS31113.1																																																																																				0.547	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		C	248525734	T	C	248525734	2	2	356	1	0	0	0	0	0	0	0	1	11029	1471	51	3		3	OR2T4	1	248525734	Silent	SNP	T	TCGA-BP-4770-01A-01D-1501-10	73202107	248525734	724887	2	20162											
FAM110C	642273	broad.mit.edu	37	2	45667	45667	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr2:45667C>T	ENST00000327669.4	-	1	718	c.719G>A	c.(718-720)gGg>gAg	p.G240E	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	240					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)	p.G240E(1)		central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		ACAGTCCGACCCCGCGGTGAA	0.692																																																1	Substitution - Missense(1)	kidney(1)											15	19	17					2																	45667		2104	4220	6324	SO:0001583	missense	642273			DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.719G>A	2.37:g.45667C>T	ENSP00000328347:p.Gly240Glu			Missense_Mutation	SNP	ENST00000327669.4	37	CCDS42645.1	.	.	.	.	.	.	.	.	.	.	C	3.276	-0.148118	0.06627	.	.	ENSG00000184731	ENST00000327669	T	0.40756	1.02	4.64	-1.17	0.09648	.	0.579667	0.18486	N	0.139791	T	0.21590	0.0520	L	0.38175	1.15	0.09310	N	1	B	0.33940	0.433	B	0.34242	0.178	T	0.20273	-1.0280	10	0.07990	T	0.79	-12.9829	2.4289	0.04466	0.1375:0.4248:0.2691:0.1685	.	240	Q1W6H9	F110C_HUMAN	E	240	ENSP00000328347:G240E	ENSP00000328347:G240E	G	-	2	0	FAM110C	35667	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.031000	0.12287	-0.127000	0.11661	0.561000	0.74099	GGG		0.692	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		T	45667	C	T	45667	3	4	356	1	0	0	0	0	1	0	0	0	5400	623	22	2	254	2	FAM110C	2	45667	Missense_Mutation	SNP	C	TCGA-BP-4770-01A-01D-1501-10		45667	243153706	3	20163											
SRBD1	55133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	45620107	45620107	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr2:45620107G>T	ENST00000263736.4	-	20	2737	c.2675C>A	c.(2674-2676)cCt>cAt	p.P892H	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.P411H	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	892					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.P892H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAAGCTTTCAGGCTGGCTGAG	0.398																																																1	Substitution - Missense(1)	kidney(1)											336	273	294					2																	45620107		2203	4300	6503	SO:0001583	missense	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2675C>A	2.37:g.45620107G>T	ENSP00000263736:p.Pro892His		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640801	0.87859	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.41758	1.33;0.99	5.55	5.55	0.83447	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78221	-0.2288	10	0.87932	D	0	.	19.8575	0.96767	0.0:0.0:1.0:0.0	.	892	Q8N5C6	SRBD1_HUMAN	H	892;411	ENSP00000263736:P892H;ENSP00000441272:P411H	ENSP00000263736:P892H	P	-	2	0	SRBD1	45473611	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.306000	0.89962	2.767000	0.95098	0.563000	0.77884	CCT		0.398	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		T	45620107	G	T	45620107	3	4	356	1	0	0	0	0	1	0	0	0	15138	1000	35	4	320	4	SRBD1	2	45620107	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10	45574440	45620107	197579266	4	20164											
DYSF	8291	broad.mit.edu;ucsc.edu	37	2	71738941	71738941	+	Missense_Mutation	SNP	C	C	G	rs199677396	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr2:71738941C>G	ENST00000258104.3	+	5	624	c.347C>G	c.(346-348)tCg>tGg	p.S116W	DYSF_ENST00000409762.1_Missense_Mutation_p.S116W|DYSF_ENST00000409366.1_Missense_Mutation_p.S117W|DYSF_ENST00000394120.2_Missense_Mutation_p.S117W|DYSF_ENST00000409651.1_Missense_Mutation_p.S117W|DYSF_ENST00000410041.1_Missense_Mutation_p.S117W|DYSF_ENST00000410020.3_Missense_Mutation_p.S117W|DYSF_ENST00000409582.3_Missense_Mutation_p.S116W|DYSF_ENST00000409744.1_Missense_Mutation_p.S117W|DYSF_ENST00000413539.2_Missense_Mutation_p.S116W|DYSF_ENST00000429174.2_Missense_Mutation_p.S116W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	116					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.S116W(1)|p.S117W(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCCAGGCCTCGCTGGTCCTG	0.642																																																2	Substitution - Missense(2)	kidney(2)											51	41	44					2																	71738941		1895	3624	5519	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.347C>G	2.37:g.71738941C>G	ENSP00000258104:p.Ser116Trp		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733460	0.69189	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	4.55	4.55	0.56014	C2 calcium/lipid-binding domain, CaLB (1);	0.076713	0.53938	D	0.000057	T	0.76786	0.4036	L	0.40543	1.245	0.58432	D	0.999994	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;0.996;0.998;0.998;0.998;0.999;0.999;0.999;0.998;0.996;0.993	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.72625	0.931;0.978;0.978;0.978;0.931;0.967;0.978;0.931;0.978;0.96;0.931;0.978;0.978;0.951	T	0.78723	-0.2093	10	0.72032	D	0.01	-12.6671	12.686	0.56948	0.0:1.0:0.0:0.0	.	117;117;117;117;117;117;116;116;116;116;116;116;117;116	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	116;116;116;116;116;117;117;117;117;117;117	ENSP00000407046:S116W;ENSP00000387137:S116W;ENSP00000386547:S116W;ENSP00000398305:S116W;ENSP00000258104:S116W;ENSP00000386683:S117W;ENSP00000377678:S117W;ENSP00000386285:S117W;ENSP00000386512:S117W;ENSP00000386881:S117W;ENSP00000386617:S117W	ENSP00000258104:S116W	S	+	2	0	DYSF	71592449	0.983000	0.35010	0.992000	0.48379	0.832000	0.47134	2.544000	0.45761	2.358000	0.79984	0.549000	0.68633	TCG		0.642	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		G	71738941	C	G	71738941	3	3	356	1	0	0	0	0	1	0	0	0	4861	893	31	4	460	4	DYSF	2	71738941	Missense_Mutation	SNP	C	TCGA-BP-4770-01A-01D-1501-10	26118834	71738941	171460432	5	20165											
MKI67IP	84365	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	122488643	122488643	+	Silent	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr2:122488643G>A	ENST00000285814.4	-	4	462	c.390C>T	c.(388-390)ctC>ctT	p.L130L	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		130					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L130L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						AGTCTTTAAAGAGTTCTTTAT	0.353																																																1	Substitution - coding silent(1)	kidney(1)											73	70	71					2																	122488643		2202	4299	6501	SO:0001819	synonymous_variant	84365																														ENST00000285814.4:c.390C>T	2.37:g.122488643G>A			A8K788|Q8TB66|Q96ED4	Silent	SNP	ENST00000285814.4	37	CCDS2135.1																																																																																				0.353	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			A	122488643	G	A	122488643	2	1	356	1	0	0	0	0	0	0	0	1	9601	929	33	2		2	MKI67IP	2	122488643	Silent	SNP	G	TCGA-BP-4770-01A-01D-1501-10	50749702	122488643	120710730	6	20166											
SMARCAL1	50485	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	217285020	217285020	+	Splice_Site	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr2:217285020A>T	ENST00000357276.4	+	5	1192		c.e5-1		SMARCAL1_ENST00000358207.5_Splice_Site	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1						cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.?(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTTCTTTGGCAGTGAAAGCAG	0.557									Schimke Immuno-Osseous Dysplasia																																							1	Unknown(1)	kidney(1)	GRCh37	CS020335	SMARCAL1	S							38	35	36					2																	217285020		2203	4300	6503	SO:0001630	splice_region_variant	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.863-1A>T	2.37:g.217285020A>T			A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Splice_Site	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178414	0.57692	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8473	0.57837	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCAL1	216993265	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	5.749000	0.68704	1.915000	0.55452	0.459000	0.35465	.		0.557	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2		Intron	T	217285020	A	T	217285020	5	4	356	1	0	0	0	0	0	0	1	0	14779	202	7	5	871	5	SMARCAL1	2	217285020	Splice_Site	SNP	A	TCGA-BP-4770-01A-01D-1501-10	94796377	217285020	25914353	7	20167											
VPRBP	9730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	51455599	51455599	+	Silent	SNP	A	A	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:51455599A>C	ENST00000335891.5	-	9	2151	c.2142T>G	c.(2140-2142)ctT>ctG	p.L714L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1163					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.L1167L(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCATTCCCCAAAGTGCAGACA	0.423																																																1	Substitution - coding silent(1)	kidney(1)											57	54	55					3																	51455599		1913	4122	6035	SO:0001819	synonymous_variant	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2142T>G	3.37:g.51455599A>C			Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37																																																																																					0.423	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		C	51455599	A	C	51455599	2	2	356	1	0	0	0	0	0	0	0	1	17190	1	1	5		5	VPRBP	3	51455599	Silent	SNP	A	TCGA-BP-4770-01A-01D-1501-10		51455599	146566831	8	20168											
GPR15	2838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	98251797	98251797	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:98251797G>T	ENST00000284311.3	+	1	1055	c.920G>T	c.(919-921)aGc>aTc	p.S307I		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	307					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.S307I(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ATCTTCGACAGCTACATCCGC	0.478																																																1	Substitution - Missense(1)	kidney(1)											84	85	85					3																	98251797		2203	4300	6503	SO:0001583	missense	2838				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.920G>T	3.37:g.98251797G>T	ENSP00000284311:p.Ser307Ile		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455577	0.26161	.	.	ENSG00000154165	ENST00000284311	T	0.39787	1.06	5.08	4.18	0.49190	.	0.572562	0.16512	N	0.211211	T	0.25606	0.0623	N	0.24115	0.695	0.20196	N	0.999922	P	0.44877	0.845	B	0.31751	0.135	T	0.06427	-1.0827	10	0.39692	T	0.17	-3.5725	13.491	0.61395	0.0:0.158:0.842:0.0	.	307	P49685	GPR15_HUMAN	I	307	ENSP00000284311:S307I	ENSP00000284311:S307I	S	+	2	0	GPR15	99734487	0.006000	0.16342	0.960000	0.40013	0.875000	0.50365	1.478000	0.35442	1.470000	0.48102	0.655000	0.94253	AGC		0.478	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			T	98251797	G	T	98251797	3	4	356	1	0	0	0	0	1	0	0	0	6657	971	34	4	922	4	GPR15	3	98251797	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10	46796198	98251797	99770633	9	20169											
RAB6B	51560	broad.mit.edu;ucsc.edu	37	3	133558406	133558406	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:133558406C>G	ENST00000285208.4	-	5	694	c.345G>C	c.(343-345)agG>agC	p.R115S	RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Missense_Mutation_p.R102S|RAB6B_ENST00000543906.1_Missense_Mutation_p.R115S	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	115					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.R115S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						CATCACTGCCCCTCTCTGTCC	0.557																																																1	Substitution - Missense(1)	kidney(1)											251	194	214					3																	133558406		2203	4300	6503	SO:0001583	missense	51560			AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"RAB, member RAS oncogene"	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.345G>C	3.37:g.133558406C>G	ENSP00000285208:p.Arg115Ser		B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833161	0.71258	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858;ENST00000477759;ENST00000460865	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	4.87	2.65	0.31530	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	N	0.03071	-0.42	0.80722	D	1	D;D	0.58268	0.982;0.967	P;D	0.63597	0.87;0.916	T	0.64145	-0.6476	10	0.56958	D	0.05	-14.5941	4.6594	0.12634	0.0:0.5661:0.0:0.4339	.	102;115	B7Z337;Q9NRW1	.;RAB6B_HUMAN	S	115;115;102;82;61	ENSP00000285208:R115S;ENSP00000437797:R115S;ENSP00000419381:R102S;ENSP00000419941:R82S;ENSP00000419526:R61S	ENSP00000285208:R115S	R	-	3	2	RAB6B	135041096	0.985000	0.35326	0.998000	0.56505	0.980000	0.70556	0.125000	0.15749	1.180000	0.42898	-0.140000	0.14226	AGG		0.557	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			G	133558406	C	G	133558406	3	3	356	1	0	0	0	0	1	0	0	0	12958	622	22	4	297	4	RAB6B	3	133558406	Missense_Mutation	SNP	C	TCGA-BP-4770-01A-01D-1501-10	35306609	133558406	64464024	10	20170											
ZNF141	7700	broad.mit.edu;hgsc.bcm.edu	37	4	367075	367075	+	Silent	SNP	C	C	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr4:367075C>T	ENST00000240499.7	+	4	998	c.849C>T	c.(847-849)atC>atT	p.I283I	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	283					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I283I(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGAAACCCATCACATGTGAAG	0.378																																																1	Substitution - coding silent(1)	kidney(1)											78	88	85					4																	367075		2203	4300	6503	SO:0001819	synonymous_variant	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.849C>T	4.37:g.367075C>T			Q6DK07	Silent	SNP	ENST00000240499.7	37	CCDS33931.1																																																																																				0.378	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		T	367075	C	T	367075	2	4	356	1	0	0	0	0	0	0	0	1	17735	816	29	2		2	ZNF141	4	367075	Silent	SNP	C	TCGA-BP-4770-01A-01D-1501-10		367075	190787201	11	20171											
CD180	4064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66478939	66478939	+	Missense_Mutation	SNP	G	G	T	rs370285296		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr5:66478939G>T	ENST00000256447.4	-	3	1889	c.1732C>A	c.(1732-1734)Ccc>Acc	p.P578T	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	578	LRRCT.				B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P578T(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CAGTCCAGGGGGTTATGACTT	0.483																																																1	Substitution - Missense(1)	kidney(1)											84	80	81					5																	66478939		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1732C>A	5.37:g.66478939G>T	ENSP00000256447:p.Pro578Thr		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429982	0.62844	.	.	ENSG00000134061	ENST00000256447	T	0.29917	1.55	5.9	5.9	0.94986	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.56702	0.2003	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.54569	-0.8274	10	0.56958	D	0.05	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	578	Q99467	CD180_HUMAN	T	578	ENSP00000256447:P578T	ENSP00000256447:P578T	P	-	1	0	CD180	66514695	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	6.917000	0.75782	2.793000	0.96121	0.563000	0.77884	CCC		0.483	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		T	66478939	G	T	66478939	3	4	356	1	0	0	0	0	1	0	0	0	2974	1232	43	4	257	4	CD180	5	66478939	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10		66478939	114436321	12	20172											
PCDHA10	56139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140236094	140236094	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr5:140236094A>G	ENST00000307360.5	+	1	461	c.461A>G	c.(460-462)gAa>gGa	p.E154G	PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E154G|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	154	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E154G(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCACTAGAAGGCGCATCT	0.413																																																2	Substitution - Missense(2)	kidney(2)											121	128	126					5																	140236094		2198	4271	6469	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.461A>G	5.37:g.140236094A>G	ENSP00000304234:p.Glu154Gly		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815541	0.50527	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.20069	2.1;2.1	4.24	4.24	0.50183	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.49575	0.1565	M	0.85462	2.755	0.24537	N	0.994083	P;B;D	0.71674	0.902;0.307;0.998	P;B;D	0.71656	0.8;0.072;0.974	T	0.42716	-0.9435	9	0.52906	T	0.07	.	13.7988	0.63188	1.0:0.0:0.0:0.0	.	154;154;154	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	G	154	ENSP00000421030:E154G;ENSP00000304234:E154G	ENSP00000304234:E154G	E	+	2	0	PCDHA10	140216278	0.020000	0.18652	1.000000	0.80357	0.991000	0.79684	0.712000	0.25779	1.905000	0.55150	0.459000	0.35465	GAA		0.413	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		G	140236094	A	G	140236094	3	3	356	1	0	0	0	0	1	0	0	0	11522	246	9	3	463	3	PCDHA10	5	140236094	Missense_Mutation	SNP	A	TCGA-BP-4770-01A-01D-1501-10	73757155	140236094	40679166	13	20173											
PCDHGB7	56099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140798186	140798186	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr5:140798186G>C	ENST00000398594.2	+	1	760	c.760G>C	c.(760-762)Gac>Cac	p.D254H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	254	Cadherin 3. {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)	p.D254H(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCGGGAAGACGTGCCTCC	0.537																																																1	Substitution - Missense(1)	kidney(1)											75	77	76					5																	140798186		2047	4194	6241	SO:0001583	missense	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.760G>C	5.37:g.140798186G>C	ENSP00000381594:p.Asp254His		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	18.41	3.618694	0.66787	.	.	ENSG00000254122	ENST00000398594	T	0.53423	0.62	5.7	4.72	0.59763	Cadherin (4);Cadherin-like (1);	0.457733	0.15392	U	0.264769	T	0.55194	0.1905	M	0.63428	1.95	0.27567	N	0.950018	P;P	0.52463	0.953;0.831	P;P	0.57425	0.82;0.642	T	0.56402	-0.7985	10	0.87932	D	0	.	3.9835	0.09504	0.3216:0.0:0.6784:0.0	.	254;254	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	H	254	ENSP00000381594:D254H	ENSP00000381594:D254H	D	+	1	0	PCDHGB7	140778370	0.443000	0.25641	0.810000	0.32431	0.924000	0.55760	1.052000	0.30429	2.711000	0.92665	0.561000	0.74099	GAC		0.537	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		C	140798186	G	C	140798186	3	2	356	1	0	0	0	0	1	0	0	0	11570	942	33	4	762	4	PCDHGB7	5	140798186	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10	562092	140798186	40117074	14	20174											
EYS	346007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	65655781	65655781	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr6:65655781A>C	ENST00000370621.3	-	15	2812	c.2286T>G	c.(2284-2286)gaT>gaG	p.D762E	EYS_ENST00000503581.1_Missense_Mutation_p.D762E|EYS_ENST00000370616.2_Missense_Mutation_p.D762E			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	762	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.D762E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTCCTTCCCAATCAGATAGGC	0.348																																																1	Substitution - Missense(1)	kidney(1)											199	164	174					6																	65655781		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2286T>G	6.37:g.65655781A>C	ENSP00000359655:p.Asp762Glu		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	A	5.813	0.334270	0.11013	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.87491	-2.05;-2.26;-2.26	4.7	0.899	0.19271	.	.	.	.	.	T	0.54902	0.1887	N	0.11000	0.08	0.80722	D	1	B	0.18310	0.027	B	0.16289	0.015	T	0.49021	-0.8982	9	0.72032	D	0.01	.	3.3062	0.07001	0.5324:0.0:0.2963:0.1713	.	762	Q5T1H1-1	.	E	762	ENSP00000424243:D762E;ENSP00000359655:D762E;ENSP00000359650:D762E	ENSP00000359650:D762E	D	-	3	2	EYS	65712502	0.841000	0.29509	0.254000	0.24359	0.024000	0.10985	-0.062000	0.11674	-0.083000	0.12618	-1.590000	0.00845	GAT		0.348	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		C	65655781	A	C	65655781	3	2	356	1	0	0	0	0	1	0	0	0	5334	98	4	5	7109	5	EYS	6	65655781	Missense_Mutation	SNP	A	TCGA-BP-4770-01A-01D-1501-10		65655781	105459286	15	20175											
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152809562	152809562	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr6:152809562A>G	ENST00000367255.5	-	12	1617	c.1016T>C	c.(1015-1017)aTg>aCg	p.M339T	SYNE1_ENST00000423061.1_Missense_Mutation_p.M346T|SYNE1_ENST00000413186.2_Missense_Mutation_p.M339T|SYNE1_ENST00000341594.5_Missense_Mutation_p.M339T|SYNE1_ENST00000466159.2_Missense_Mutation_p.M339T|SYNE1_ENST00000367248.3_Missense_Mutation_p.M329T|SYNE1_ENST00000265368.4_Missense_Mutation_p.M339T|SYNE1_ENST00000448038.1_Missense_Mutation_p.M346T|SYNE1_ENST00000367253.4_Missense_Mutation_p.M339T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	339					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.M339T(2)|p.M346T(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGATTCCACCATCTGTGCTCT	0.294										HNSCC(10;0.0054)																																						3	Substitution - Missense(3)	kidney(3)											128	128	128					6																	152809562		2202	4293	6495	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1016T>C	6.37:g.152809562A>G	ENSP00000356224:p.Met339Thr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	8.575	0.880963	0.17467	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.90900	0.73;0.73;0.64;0.73;0.83;-2.11;-2.26;-2.24;-2.54;-2.75	5.42	5.42	0.78866	.	0.421386	0.23856	N	0.043899	T	0.80717	0.4676	L	0.41236	1.265	0.80722	D	1	B;B;B;B;B	0.32010	0.116;0.239;0.141;0.239;0.351	B;B;B;B;B	0.29862	0.024;0.05;0.076;0.05;0.108	T	0.80146	-0.1504	10	0.30078	T	0.28	.	15.4603	0.75349	1.0:0.0:0.0:0.0	.	322;339;339;339;346	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	T	339;346;339;346;339;339;329;339;339;322	ENSP00000356224:M339T;ENSP00000396024:M346T;ENSP00000265368:M339T;ENSP00000390975:M346T;ENSP00000341887:M339T;ENSP00000356222:M339T;ENSP00000356217:M329T;ENSP00000414510:M339T;ENSP00000446021:M339T;ENSP00000441264:M322T	ENSP00000265368:M339T	M	-	2	0	SYNE1	152851255	0.999000	0.42202	1.000000	0.80357	0.896000	0.52359	5.053000	0.64269	2.057000	0.61298	0.533000	0.62120	ATG		0.294	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152809562	A	G	152809562	3	3	356	1	0	0	0	0	1	0	0	0	15450	217	8	3	25990	3	SYNE1	6	152809562	Missense_Mutation	SNP	A	TCGA-BP-4770-01A-01D-1501-10	87153781	152809562	18305505	16	20176											
KLHL7	55975	broad.mit.edu;ucsc.edu	37	7	23207478	23207478	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr7:23207478G>A	ENST00000339077.5	+	9	1444	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	KLHL7_ENST00000545443.1_Missense_Mutation_p.E379K|KLHL7_ENST00000539124.1_Missense_Mutation_p.E325K|KLHL7_ENST00000322231.7_Missense_Mutation_p.E379K|KLHL7_ENST00000409689.1_Missense_Mutation_p.E353K|KLHL7_ENST00000542558.1_Missense_Mutation_p.E176K	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	401					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.E401K(1)|p.E379K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATTTATTTGAGTGCTATGA	0.463																																																2	Substitution - Missense(2)	kidney(2)											73	75	74					7																	23207478		2203	4300	6503	SO:0001583	missense	55975				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1201G>A	7.37:g.23207478G>A	ENSP00000343273:p.Glu401Lys		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	CCDS34609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.763764|5.763764	0.96906|0.96906	.|.	.|.	ENSG00000122550|ENSG00000122550	ENST00000536369|ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	.|D;D;D;D;D;D	.|0.84516	.|-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Kelch-type beta propeller (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.95198	.|0.8443	H|H	0.95402|0.95402	3.665|3.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.87578	.|0.995;0.998;0.91	.|D	.|0.95952	.|0.8955	.|10	.|0.87932	.|D	.|0	.|.	20.0203|20.0203	0.97492|0.97492	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|176;401;379	.|B7Z3P9;Q8IXQ5;Q8IXQ5-2	.|.;KLHL7_HUMAN;.	.|K	-1|242;379;401;325;176;353;379	.|ENSP00000322958:E379K;ENSP00000343273:E401K;ENSP00000441136:E325K;ENSP00000442367:E176K;ENSP00000386263:E353K;ENSP00000442366:E379K	.|ENSP00000322958:E379K	.|E	+|+	.|1	.|0	KLHL7|KLHL7	23174003|23174003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.476000|9.476000	0.97823|0.97823	2.730000|2.730000	0.93505|0.93505	0.655000|0.655000	0.94253|0.94253	.|GAG		0.463	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		A	23207478	G	A	23207478	3	1	356	1	0	0	0	0	1	0	0	0	8396	1291	45	2	1298	2	KLHL7	7	23207478	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10		23207478	135931185	17	20177											
NCF1	653361	broad.mit.edu;hgsc.bcm.edu	37	7	74191683	74191683	+	Missense_Mutation	SNP	A	A	G	rs368948045		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr7:74191683A>G	ENST00000289473.4	+	2	213	c.143A>G	c.(142-144)tAc>tGc	p.Y48C	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	48	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.Y48C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	ACCGAGATCTACGAGTTCCAT	0.602																																																1	Substitution - Missense(1)	kidney(1)											29	29	29					7																	74191683		2203	4295	6498	SO:0001583	missense	653361			M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.143A>G	7.37:g.74191683A>G	ENSP00000289473:p.Tyr48Cys		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	a	14.22	2.469501	0.43839	.	.	ENSG00000158517	ENST00000289473;ENST00000433458;ENST00000442021	T;T;T	0.70399	1.01;1.01;-0.48	4.57	4.57	0.56435	Phox homologous domain (5);	0.129990	0.53938	D	0.000050	D	0.85575	0.5728	M	0.88031	2.925	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.88214	0.2892	10	0.66056	D	0.02	-30.6791	13.4416	0.61117	1.0:0.0:0.0:0.0	.	48;48;48	B4E3W8;P14598-2;P14598	.;.;NCF1_HUMAN	C	48;48;24	ENSP00000289473:Y48C;ENSP00000392870:Y48C;ENSP00000401935:Y24C	ENSP00000289473:Y48C	Y	+	2	0	NCF1	73829619	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	8.326000	0.90010	1.854000	0.53819	0.358000	0.22013	TAC		0.602	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		G	74191683	A	G	74191683	3	3	356	1	0	0	0	0	1	0	0	0	10218	391	14	3	149	3	NCF1	7	74191683	Missense_Mutation	SNP	A	TCGA-BP-4770-01A-01D-1501-10	50984205	74191683	84946980	18	20178											
TRRAP	8295	broad.mit.edu	37	7	98574329	98574329	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr7:98574329T>G	ENST00000359863.4	+	54	8371	c.8162T>G	c.(8161-8163)cTt>cGt	p.L2721R	TRRAP_ENST00000355540.3_Missense_Mutation_p.L2703R|TRRAP_ENST00000446306.3_Missense_Mutation_p.L2703R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2721	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.L2721R(1)|p.L2703R(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTCTGAGTCTTCAGATTAAG	0.537																																																2	Substitution - Missense(2)	kidney(2)											56	61	59					7																	98574329		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8162T>G	7.37:g.98574329T>G	ENSP00000352925:p.Leu2721Arg		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.90|14.90	2.674681|2.674681	0.47781|0.47781	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.46063	.|0.88;0.88	5.92|5.92	5.92|5.92	0.95590|0.95590	.|PIK-related kinase (1);Armadillo-like helical (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.23649|0.23649	0.0572|0.0572	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.22851	.|0.061;0.023;0.076	.|B;B;B	.|0.15870	.|0.014;0.005;0.014	T|T	0.12993|0.12993	-1.0526|-1.0526	5|10	.|0.10902	.|T	.|0.67	.|.	16.3634|16.3634	0.83296|0.83296	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2703;2442;2721	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	V|R	2443|2721;2703;2702	.|ENSP00000352925:L2721R;ENSP00000347733:L2703R	.|ENSP00000347733:L2703R	F|L	+|+	1|2	0|0	TRRAP|TRRAP	98412265|98412265	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.587000|0.587000	0.36485|0.36485	7.782000|7.782000	0.85680|0.85680	2.270000|2.270000	0.75569|0.75569	0.459000|0.459000	0.35465|0.35465	TTC|CTT		0.537	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		G	98574329	T	G	98574329	3	3	356	1	0	0	0	0	1	0	0	0	16606	1609	56	5	8314	5	TRRAP	7	98574329	Missense_Mutation	SNP	T	TCGA-BP-4770-01A-01D-1501-10	24382646	98574329	60564334	19	20179											
SLC12A9	56996	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100463346	100463346	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr7:100463346A>C	ENST00000354161.3	+	14	1989	c.1864A>C	c.(1864-1866)Atg>Ctg	p.M622L	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	622					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.M622V(1)|p.M622L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCAGGTGGCATGAAGCCCAA	0.592																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											87	79	82					7																	100463346		2203	4300	6503	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1864A>C	7.37:g.100463346A>C	ENSP00000275730:p.Met622Leu		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	A	33	5.235179	0.95207	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.90732	-2.72	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	L	0.41027	1.25	0.80722	D	1	B	0.27853	0.191	B	0.32090	0.14	D	0.85721	0.1325	10	0.54805	T	0.06	.	13.4475	0.61148	1.0:0.0:0.0:0.0	.	622	Q9BXP2	S12A9_HUMAN	L	622;248	ENSP00000275730:M622L	ENSP00000275730:M622L	M	+	1	0	SLC12A9	100301282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.257000	0.95545	2.072000	0.62099	0.454000	0.30748	ATG		0.592	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		C	100463346	A	C	100463346	3	2	356	1	0	0	0	0	1	0	0	0	14396	217	8	5	1914	5	SLC12A9	7	100463346	Missense_Mutation	SNP	A	TCGA-BP-4770-01A-01D-1501-10	1889017	100463346	58675317	20	20180											
MLL3	58508	broad.mit.edu	37	7	151970836	151970836	+	Silent	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr7:151970836G>A	ENST00000262189.6	-	7	1184	c.966C>T	c.(964-966)caC>caT	p.H322H	KMT2C_ENST00000355193.2_Silent_p.H322H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	322					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H322H(2)									GCAGGAAGATGTGACTGAAAT	0.413																																																2	Substitution - coding silent(2)	kidney(2)											256	240	245					7																	151970836		2203	4300	6503	SO:0001819	synonymous_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.966C>T	7.37:g.151970836G>A			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																				0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151970836	G	A	151970836	2	1	356	1	0	0	0	0	0	0	0	1	9624	1368	48	2		2	MLL3	7	151970836	Silent	SNP	G	TCGA-BP-4770-01A-01D-1501-10	51507490	151970836	7167827	21	20181											
STAR	6770	broad.mit.edu;hgsc.bcm.edu	37	8	38001871	38001871	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr8:38001871G>T	ENST00000276449.4	-	7	1224	c.778C>A	c.(778-780)Ctg>Atg	p.L260M		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	260	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)	p.L260M(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GTCTGGGACAGGACCTGGTTG	0.582																																																1	Substitution - Missense(1)	kidney(1)											60	52	54					8																	38001871		2203	4300	6503	SO:0001583	missense	6770			BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.778C>A	8.37:g.38001871G>T	ENSP00000276449:p.Leu260Met		Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.98|16.98	3.271949|3.271949	0.59649|0.59649	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000276449;ENST00000522753|ENST00000522050	T|.	0.80123|.	-1.34|.	5.7|5.7	0.994|0.994	0.19832|0.19832	Lipid-binding START (3);START-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70587|0.70587	0.3241|0.3241	M|M	0.85197|0.85197	2.74|2.74	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.31274|.	0.175;0.317|.	P;P|.	0.51945|.	0.47;0.685|.	T|T	0.66995|0.66995	-0.5782|-0.5782	10|5	0.52906|.	T|.	0.07|.	-8.8918|-8.8918	5.8487|5.8487	0.18681|0.18681	0.2795:0.0:0.5895:0.1309|0.2795:0.0:0.5895:0.1309	.|.	222;260|.	E7ETA9;P49675|.	.;STAR_HUMAN|.	M|H	260;222|207	ENSP00000276449:L260M|.	ENSP00000276449:L260M|.	L|P	-|-	1|2	2|0	STAR|STAR	38121028|38121028	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.989000|0.989000	0.77384|0.77384	2.383000|2.383000	0.44354|0.44354	0.146000|0.146000	0.19002|0.19002	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.582	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		T	38001871	G	T	38001871	3	4	356	1	0	0	0	0	1	0	0	0	15259	991	35	4	83	4	STAR	8	38001871	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10		38001871	108362151	22	20182											
PLEC	5339	broad.mit.edu;hgsc.bcm.edu	37	8	144992443	144992443	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr8:144992443G>T	ENST00000322810.4	-	32	12126	c.11957C>A	c.(11956-11958)cCg>cAg	p.P3986Q	PLEC_ENST00000436759.2_Missense_Mutation_p.P3876Q|PLEC_ENST00000357649.2_Missense_Mutation_p.P3853Q|PLEC_ENST00000356346.3_Missense_Mutation_p.P3835Q|PLEC_ENST00000527096.1_Missense_Mutation_p.P3872Q|PLEC_ENST00000354589.3_Missense_Mutation_p.P3849Q|PLEC_ENST00000345136.3_Missense_Mutation_p.P3849Q|PLEC_ENST00000354958.2_Missense_Mutation_p.P3827Q|PLEC_ENST00000398774.2_Missense_Mutation_p.P3817Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3986	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.P3986Q(1)|p.P3876Q(1)|p.P3849Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCGGTGGACGGGTCCACGTA	0.672																																																3	Substitution - Missense(3)	kidney(3)											18	24	22					8																	144992443		2024	4164	6188	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11957C>A	8.37:g.144992443G>T	ENSP00000323856:p.Pro3986Gln		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983717	0.35036	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	3.67	3.67	0.42095	.	0.000000	0.64402	U	0.000012	D	0.93048	0.7787	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.94123	0.7381	10	0.87932	D	0	.	14.6511	0.68797	0.0:0.0:1.0:0.0	.	3876;3835;3827;3986;3817;3849;3853;3849	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3849;3853;3849;3817;3986;3827;3835;3876;3872	ENSP00000344848:P3849Q;ENSP00000350277:P3853Q;ENSP00000346602:P3849Q;ENSP00000381756:P3817Q;ENSP00000323856:P3986Q;ENSP00000347044:P3827Q;ENSP00000348702:P3835Q;ENSP00000388180:P3876Q;ENSP00000434583:P3872Q	ENSP00000323856:P3986Q	P	-	2	0	PLEC	145064431	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.679000	0.84048	2.050000	0.60909	0.448000	0.29417	CCG		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144992443	G	T	144992443	3	4	356	1	0	0	0	0	1	0	0	0	12054	1116	39	4	2101	4	PLEC	8	144992443	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10	106990572	144992443	1371579	23	20183											
DMRT2	10655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	1056689	1056689	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr9:1056689C>G	ENST00000358146.2	+	3	1102	c.1102C>G	c.(1102-1104)Caa>Gaa	p.Q368E	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.Q368E|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.Q368E			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	368					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q368E(1)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CACCTCAGTTCAAGCCCTGAA	0.542																																																1	Substitution - Missense(1)	kidney(1)											79	80	80					9																	1056689		2203	4300	6503	SO:0001583	missense	10655			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1102C>G	9.37:g.1056689C>G	ENSP00000350865:p.Gln368Glu		B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972330	0.74246	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.58940	0.3;0.3;0.3	5.78	5.78	0.91487	.	0.113546	0.64402	D	0.000009	T	0.58495	0.2126	M	0.64404	1.975	0.58432	D	0.999999	P;P	0.38195	0.622;0.461	B;B	0.35182	0.097;0.197	T	0.62282	-0.6887	10	0.56958	D	0.05	-8.7469	19.6222	0.95663	0.0:1.0:0.0:0.0	.	368;212	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	E	368	ENSP00000371686:Q368E;ENSP00000305785:Q368E;ENSP00000350865:Q368E	ENSP00000305785:Q368E	Q	+	1	0	DMRT2	1046689	1.000000	0.71417	0.910000	0.35882	0.997000	0.91878	7.286000	0.78671	2.742000	0.94016	0.650000	0.86243	CAA		0.542	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		G	1056689	C	G	1056689	3	3	356	1	0	0	0	0	1	0	0	0	4588	827	29	4	1169	4	DMRT2	9	1056689	Missense_Mutation	SNP	C	TCGA-BP-4770-01A-01D-1501-10		1056689	140156742	24	20184											
FREM1	158326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	14748599	14748599	+	Missense_Mutation	SNP	G	G	T	rs528734964		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr9:14748599G>T	ENST00000380880.3	-	31	6379	c.5596C>A	c.(5596-5598)Cac>Aac	p.H1866N	FREM1_ENST00000380881.4_Missense_Mutation_p.H1867N|FREM1_ENST00000380894.1_Missense_Mutation_p.H402N|FREM1_ENST00000422223.2_Missense_Mutation_p.H1866N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1866					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.H1867N(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CATGTGCTGTGCTTGCTTTGG	0.493																																																1	Substitution - Missense(1)	kidney(1)											241	251	248					9																	14748599		2077	4207	6284	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5596C>A	9.37:g.14748599G>T	ENSP00000370262:p.His1866Asn		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607440	0.28623	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.13089	2.89;2.89;2.62;2.89	6.04	2.8	0.32819	.	0.714636	0.14626	N	0.308125	T	0.10508	0.0257	L	0.44542	1.39	0.21499	N	0.999663	B;B	0.24092	0.004;0.097	B;B	0.16722	0.005;0.016	T	0.26467	-1.0102	10	0.29301	T	0.29	-2.4794	5.8603	0.18743	0.1727:0.0:0.5453:0.282	.	1866;402	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	N	1867;1866;402;1866	ENSP00000370263:H1867N;ENSP00000412940:H1866N;ENSP00000370278:H402N;ENSP00000370262:H1866N	ENSP00000370262:H1866N	H	-	1	0	FREM1	14738599	0.916000	0.31088	0.934000	0.37439	0.729000	0.41735	1.180000	0.32005	0.843000	0.35070	-0.397000	0.06425	CAC		0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		T	14748599	G	T	14748599	3	4	356	1	0	0	0	0	1	0	0	0	6046	1319	46	4	971	4	FREM1	9	14748599	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10	13691910	14748599	126464832	25	20185											
TBC1D2	55357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100963824	100963824	+	Silent	SNP	C	C	T	rs145936813	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr9:100963824C>T	ENST00000375064.1	-	11	2432	c.2394G>A	c.(2392-2394)gcG>gcA	p.A798A	TBC1D2_ENST00000375066.5_Silent_p.A798A|TBC1D2_ENST00000375063.1_Silent_p.A338A|TBC1D2_ENST00000342112.5_Silent_p.A580A	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	798	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.A798A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TGAGACTGTCCGCAAAGACCA	0.617																																																1	Substitution - coding silent(1)	kidney(1)						C		2,4404	4.2+/-10.8	0,2,2201	143	104	117		2394	-7.7	0.9	9	dbSNP_134	117	16,8584	11.9+/-42.8	0,16,4284	no	coding-synonymous	TBC1D2	NM_018421.3		0,18,6485	TT,TC,CC		0.186,0.0454,0.1384		798/918	100963824	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	55357			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2394G>A	9.37:g.100963824C>T			B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37																																																																																					0.617	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		T	100963824	C	T	100963824	2	4	356	1	0	0	0	0	0	0	0	1	15613	639	23	1		1	TBC1D2	9	100963824	Silent	SNP	C	TCGA-BP-4770-01A-01D-1501-10	86215225	100963824	40249607	26	20186											
C5	727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123745015	123745015	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr9:123745015G>A	ENST00000223642.1	-	26	3337	c.3308C>T	c.(3307-3309)tCt>tTt	p.S1103F		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1103					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.S1103F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CCACAATAAAGAATTACAAAT	0.289																																																1	Substitution - Missense(1)	kidney(1)											58	59	59					9																	123745015		2202	4286	6488	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3308C>T	9.37:g.123745015G>A	ENSP00000223642:p.Ser1103Phe		Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418609	0.62622	.	.	ENSG00000106804	ENST00000223642	T	0.38887	1.11	5.42	5.42	0.78866	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.350657	0.30538	N	0.009408	T	0.66096	0.2755	M	0.88775	2.98	0.39848	D	0.973209	D	0.55172	0.97	P	0.59424	0.857	T	0.74417	-0.3672	10	0.87932	D	0	.	13.886	0.63708	0.0:0.1526:0.8474:0.0	.	1103	P01031	CO5_HUMAN	F	1103	ENSP00000223642:S1103F	ENSP00000223642:S1103F	S	-	2	0	C5	122784836	0.997000	0.39634	0.973000	0.42090	0.868000	0.49771	3.573000	0.53856	2.551000	0.86045	0.484000	0.47621	TCT		0.289	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		A	123745015	G	A	123745015	3	1	356	1	0	0	0	0	1	0	0	0	2282	942	33	2	1786	2	C5	9	123745015	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10	22781191	123745015	17468416	27	20187											
C10orf18	54906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5800947	5800947	+	Missense_Mutation	SNP	A	A	T	rs202125233		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr10:5800947A>T	ENST00000328090.5	+	18	7609	c.6984A>T	c.(6982-6984)gaA>gaT	p.E2328D		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2328								p.E2328D(1)									AGCTAAAAGAAGATGAAAGGT	0.433																																																1	Substitution - Missense(1)	kidney(1)						A	ASP/GLU	3,3891		0,3,1944	74	73	74		6984	2.8	0.5	10		74	1,8253		0,1,4126	yes	missense	FAM208B	NM_017782.4	45	0,4,6070	TT,TA,AA		0.0121,0.077,0.0329	possibly-damaging	2328/2431	5800947	4,12144	1947	4127	6074	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6984A>T	10.37:g.5800947A>T	ENSP00000328426:p.Glu2328Asp		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329517	0.24167	7.7E-4	1.21E-4	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.24350	1.86	5.5	2.78	0.32641	.	0.000000	0.64402	D	0.000005	T	0.26085	0.0636	M	0.80183	2.485	0.24273	N	0.995232	P	0.47962	0.903	B	0.41236	0.351	T	0.36383	-0.9750	10	0.59425	D	0.04	.	2.5089	0.04652	0.5955:0.142:0.1247:0.1379	.	2328	Q5VWN6	F208B_HUMAN	D	2328;1523	ENSP00000328426:E2328D	ENSP00000328426:E2328D	E	+	3	2	C10orf18	5840953	0.884000	0.30299	0.503000	0.27626	0.011000	0.07611	1.551000	0.36233	0.888000	0.36160	-0.321000	0.08615	GAA		0.433	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		T	5800947	A	T	5800947	3	4	356	1	0	0	0	0	1	0	0	0	1598	69	3	5	7042	5	C10orf18	10	5800947	Missense_Mutation	SNP	A	TCGA-BP-4770-01A-01D-1501-10		5800947	129733800	28	20188											
LRRC56	115399	broad.mit.edu	37	11	551241	551241	+	Silent	SNP	G	G	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:551241G>C	ENST00000270115.7	+	9	1235	c.735G>C	c.(733-735)ctG>ctC	p.L245L		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	245	LRRCT.							p.L245L(1)		kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCGCGGCTGAGCCAGGACT	0.687																																																1	Substitution - coding silent(1)	kidney(1)											22	18	19					11																	551241		1989	3954	5943	SO:0001819	synonymous_variant	115399				CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.735G>C	11.37:g.551241G>C			Q8N3Q4	Silent	SNP	ENST00000270115.7	37	CCDS7700.1																																																																																				0.687	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		C	551241	G	C	551241	2	2	356	1	0	0	0	0	0	0	0	1	9014	1277	45	4		4	LRRC56	11	551241	Silent	SNP	G	TCGA-BP-4770-01A-01D-1501-10		551241	134455275	29	20189											
OR2AG1	144125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6806389	6806389	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:6806389A>G	ENST00000307401.4	+	1	142	c.121A>G	c.(121-123)Agc>Ggc	p.S41G		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S41G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCCCTGATCAGCAATGGCCT	0.527																																																1	Substitution - Missense(1)	kidney(1)											181	173	176					11																	6806389		2201	4296	6497	SO:0001583	missense	144125			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"GPCR / Class A : Olfactory receptors"	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.121A>G	11.37:g.6806389A>G	ENSP00000307447:p.Ser41Gly		B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.394048	0.00200	.	.	ENSG00000170803	ENST00000307401	T	0.21932	1.98	4.03	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.333064	0.25984	N	0.027047	T	0.03477	0.0100	N	0.00201	-1.865	0.23602	N	0.99732	B	0.24675	0.109	B	0.21151	0.033	T	0.42241	-0.9463	10	0.02654	T	1	.	7.8941	0.29695	0.8987:0.0:0.1013:0.0	.	41	Q9H205	O2AG1_HUMAN	G	41	ENSP00000307447:S41G	ENSP00000307447:S41G	S	+	1	0	OR2AG1	6762965	0.674000	0.27549	0.756000	0.31282	0.019000	0.09904	2.130000	0.42064	0.724000	0.32296	-0.332000	0.08345	AGC		0.527	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		G	6806389	A	G	6806389	3	3	356	1	0	0	0	0	1	0	0	0	10986	188	7	3	123	3	OR2AG1	11	6806389	Missense_Mutation	SNP	A	TCGA-BP-4770-01A-01D-1501-10	6255148	6806389	128200127	30	20190											
OR4A5	81318	broad.mit.edu;hgsc.bcm.edu	37	11	51412339	51412339	+	Silent	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:51412339A>T	ENST00000319760.6	-	1	109	c.57T>A	c.(55-57)ccT>ccA	p.P19P		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P19P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TTTGCACACCAGGATCCTGAG	0.423																																																1	Substitution - coding silent(1)	kidney(1)											39	37	38					11																	51412339		2200	4296	6496	SO:0001819	synonymous_variant	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.57T>A	11.37:g.51412339A>T			Q6IF84	Silent	SNP	ENST00000319760.6	37	CCDS31497.1																																																																																				0.423	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		T	51412339	A	T	51412339	2	4	356	1	0	0	0	0	0	0	0	1	11045	175	7	5		5	OR4A5	11	51412339	Silent	SNP	A	TCGA-BP-4770-01A-01D-1501-10	44605950	51412339	83594177	31	20191											
OR8H1	219469	broad.mit.edu	37	11	56057618	56057618	+	Silent	SNP	T	T	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:56057618T>C	ENST00000313022.2	-	1	948	c.921A>G	c.(919-921)agA>agG	p.R307R		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R307R(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGGAGTCCTGTCTTCTCTGCA	0.333																																																1	Substitution - coding silent(1)	kidney(1)											86	98	94					11																	56057618		2201	4295	6496	SO:0001819	synonymous_variant	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.921A>G	11.37:g.56057618T>C			B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	T	1.907	-0.451717	0.04572	.	.	ENSG00000181693	ENST00000395186	.	.	.	3.71	-0.423	0.12325	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8299	0.08870	0.0:0.2242:0.1871:0.5887	.	.	.	.	.	-1	.	.	.	-	.	.	OR8H1	55814194	0.011000	0.17503	0.000000	0.03702	0.025000	0.11179	1.299000	0.33424	-0.197000	0.10350	0.366000	0.22137	.		0.333	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		C	56057618	T	C	56057618	2	2	356	1	0	0	0	0	0	0	0	1	11239	1664	58	3		3	OR8H1	11	56057618	Silent	SNP	T	TCGA-BP-4770-01A-01D-1501-10	4645279	56057618	78948898	32	20192											
OR1S1	219959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57982325	57982325	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:57982325C>A	ENST00000309433.6	+	1	109	c.109C>A	c.(109-111)Caa>Aaa	p.Q37K		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q37K(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GGATGAGCATCAAAACCTCCT	0.433																																																1	Substitution - Missense(1)	kidney(1)											279	253	262					11																	57982325		2201	4296	6497	SO:0001583	missense	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.109C>A	11.37:g.57982325C>A	ENSP00000311688:p.Gln37Lys		Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	C	9.480	1.098029	0.20552	.	.	ENSG00000172774	ENST00000309433	T	0.00591	6.35	3.45	2.46	0.29980	.	0.000000	0.46442	D	0.000295	T	0.00998	0.0033	L	0.55213	1.73	0.09310	N	1	D	0.54207	0.965	P	0.47744	0.556	T	0.52510	-0.8566	10	0.62326	D	0.03	.	11.7391	0.51781	0.0:0.8212:0.1787:0.0	.	37	Q8NH92	OR1S1_HUMAN	K	37	ENSP00000311688:Q37K	ENSP00000311688:Q37K	Q	+	1	0	OR1S1	57738901	0.000000	0.05858	0.010000	0.14722	0.077000	0.17291	0.229000	0.17833	1.770000	0.52166	0.479000	0.44913	CAA		0.433	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		A	57982325	C	A	57982325	3	1	356	1	0	0	0	0	1	0	0	0	10974	827	29	4	111	4	OR1S1	11	57982325	Missense_Mutation	SNP	C	TCGA-BP-4770-01A-01D-1501-10	1924707	57982325	77024191	33	20193											
NAALADL1	10004	broad.mit.edu;hgsc.bcm.edu	37	11	64822097	64822097	+	Silent	SNP	C	C	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:64822097C>A	ENST00000358658.3	-	5	744	c.717G>T	c.(715-717)ctG>ctT	p.L239L	NAALADL1_ENST00000355369.2_Silent_p.L239L|NAALADL1_ENST00000340252.4_Silent_p.L239L|NAALADL1_ENST00000355721.3_Silent_p.L198L|NAALADL1_ENST00000356632.3_Silent_p.L239L|NAALADL1_ENST00000339885.2_Silent_p.L239L	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.L239L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CTGAGGGGGGCAGGTACCAGG	0.612											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																																				1	Substitution - coding silent(1)	kidney(1)											58	58	58					11																	64822097		2201	4297	6498	SO:0001819	synonymous_variant	10004			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.717G>T	11.37:g.64822097C>A		1079	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	37	CCDS31604.1																																																																																				0.612	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		A	64822097	C	A	64822097	2	1	356	1	0	0	0	0	0	0	0	1	10131	697	25	4		4	NAALADL1	11	64822097	Silent	SNP	C	TCGA-BP-4770-01A-01D-1501-10	6839772	64822097	70184419	34	20194											
OR10G7	390265	broad.mit.edu;hgsc.bcm.edu	37	11	123909632	123909632	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:123909632A>T	ENST00000330487.5	-	1	85	c.77T>A	c.(76-78)tTt>tAt	p.F26Y		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F26Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAAGATTCCAAAGAGGGGGGC	0.572																																																1	Substitution - Missense(1)	kidney(1)											91	88	89					11																	123909632		2200	4299	6499	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.77T>A	11.37:g.123909632A>T	ENSP00000329689:p.Phe26Tyr		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402493	0.62288	.	.	ENSG00000182634	ENST00000330487	T	0.04360	3.64	3.38	3.38	0.38709	.	0.427811	0.19916	N	0.103191	T	0.15089	0.0364	M	0.89214	3.015	0.30397	N	0.780373	P	0.40431	0.717	P	0.46850	0.529	T	0.02411	-1.1163	10	0.87932	D	0	.	10.492	0.44756	1.0:0.0:0.0:0.0	.	26	Q8NGN6	O10G7_HUMAN	Y	26	ENSP00000329689:F26Y	ENSP00000329689:F26Y	F	-	2	0	OR10G7	123414842	0.998000	0.40836	0.146000	0.22360	0.048000	0.14542	3.992000	0.56980	1.538000	0.49270	0.455000	0.32223	TTT		0.572	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		T	123909632	A	T	123909632	3	4	356	1	0	0	0	0	1	0	0	0	10904	14	1	5	862	5	OR10G7	11	123909632	Missense_Mutation	SNP	A	TCGA-BP-4770-01A-01D-1501-10	59087535	123909632	11096884	35	20195											
GRIN2B	2904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	13761600	13761600	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr12:13761600G>T	ENST00000609686.1	-	9	2156	c.1947C>A	c.(1945-1947)aaC>aaA	p.N649K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	649					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.N649K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGCAGCTAAGTTGGCAGTGT	0.507																																																1	Substitution - Missense(1)	kidney(1)											130	110	117					12																	13761600		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1947C>A	12.37:g.13761600G>T	ENSP00000477455:p.Asn649Lys		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648761	0.67358	.	.	ENSG00000150086	ENST00000279593	T	0.60797	0.16	5.57	3.75	0.43078	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75687	-0.3231	10	0.87932	D	0	.	10.2274	0.43233	0.2676:0.0:0.7324:0.0	.	649	Q13224	NMDE2_HUMAN	K	649	ENSP00000279593:N649K	ENSP00000279593:N649K	N	-	3	2	GRIN2B	13652867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.462000	0.45049	0.709000	0.31976	0.655000	0.94253	AAC		0.507	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			T	13761600	G	T	13761600	3	4	356	1	0	0	0	0	1	0	0	0	6782	1020	36	4	2527	4	GRIN2B	12	13761600	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10		13761600	120090295	36	20196											
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																																2	Substitution - coding silent(2)	kidney(2)											52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547141	G	A	132547141	2	1	356	1	0	0	0	0	0	0	0	1	5151	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-BP-4770-01A-01D-1501-10	118785541	132547141	1304754	37	20197											
MTUS2	23281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	30062042	30062042	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr13:30062042A>T	ENST00000380808.2	+	4	558	c.342A>T	c.(340-342)gaA>gaT	p.E114D	MTUS2_ENST00000431530.3_Missense_Mutation_p.E1145D|MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000542829.1_Missense_Mutation_p.E24D|MTUS2-AS1_ENST00000323380.5_RNA	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1135						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.E1145D(1)|p.E114D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCCAGGTGGAAGATCTCACCG	0.507																																																2	Substitution - Missense(2)	kidney(2)											95	98	97					13																	30062042		2092	4217	6309	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.342A>T	13.37:g.30062042A>T	ENSP00000370186:p.Glu114Asp		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000380808.2	37	CCDS41874.1	.	.	.	.	.	.	.	.	.	.	A	4.333	0.061170	0.08339	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	T;T;T	0.18960	2.68;2.18;2.91	4.72	-2.05	0.07321	.	0.105646	0.64402	D	0.000006	T	0.24928	0.0605	L	0.37630	1.12	0.42002	D	0.990896	B;D	0.76494	0.027;0.999	B;D	0.71414	0.033;0.973	T	0.07888	-1.0749	9	.	.	.	.	5.2608	0.15571	0.3382:0.3067:0.3551:0.0	.	114;1135	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	D	1145;114;24;71	ENSP00000392057:E1145D;ENSP00000370186:E114D;ENSP00000445403:E24D	.	E	+	3	2	MTUS2	28960042	0.998000	0.40836	0.851000	0.33527	0.806000	0.45545	0.422000	0.21296	-0.517000	0.06461	-0.313000	0.08912	GAA		0.507	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270		T	30062042	A	T	30062042	3	4	356	1	0	0	0	0	1	0	0	0	9968	69	3	5	3527	5	MTUS2	13	30062042	Missense_Mutation	SNP	A	TCGA-BP-4770-01A-01D-1501-10		30062042	85107836	38	20198											
RB1	5925	broad.mit.edu;hgsc.bcm.edu	37	13	49030485	49030485	+	Splice_Site	SNP	G	G	A	rs483352690		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr13:49030485G>A	ENST00000267163.4	+	19	2098	c.1960G>A	c.(1960-1962)Gtg>Atg	p.V654M		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	654	Domain B.|Pocket; binds T and E1A.		V -> E (in RB). {ECO:0000269|PubMed:7795591}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.V654M(3)|p.V654fs*4(1)|p.V654L(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTATAAAAAAGGTTAGTAGAT	0.403		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	30	Whole gene deletion(15)|Unknown(10)|Substitution - Missense(4)|Deletion - Frameshift(1)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)|skin(1)|liver(1)	GRCh37	CM034902|CS050405|CS081965|CS083261	RB1	M|S							53	51	51					13																	49030485		2203	4300	6503	SO:0001630	splice_region_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1960+1G>A	13.37:g.49030485G>A			A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346955	0.82022	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.93763	-3.28	5.97	5.97	0.96955	Retinoblastoma-associated protein, B-box (1);Cyclin-like (2);	0.216802	0.41097	D	0.000945	D	0.96476	0.8850	M	0.67700	2.07	0.54753	D	0.999985	D	0.89917	1.0	D	0.79784	0.993	D	0.96197	0.9142	10	0.72032	D	0.01	.	20.4214	0.99039	0.0:0.0:1.0:0.0	.	654	P06400	RB_HUMAN	M	633;654	ENSP00000267163:V654M	ENSP00000267163:V654M	V	+	1	0	RB1	47928486	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.809000	0.69172	2.820000	0.97059	0.655000	0.94253	GTG		0.403	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Missense_Mutation	A	49030485	G	A	49030485	5	1	356	1	0	0	0	0	0	0	1	0	13104	1014	35	2	2034	2	RB1	13	49030485	Splice_Site	SNP	G	TCGA-BP-4770-01A-01D-1501-10	18968443	49030485	66139393	39	20199											
RPGRIP1	57096	broad.mit.edu;ucsc.edu	37	14	21793025	21793025	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr14:21793025G>T	ENST00000400017.2	+	14	2011	c.2011G>T	c.(2011-2013)Ggg>Tgg	p.G671W	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G633W|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.G671W|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000556336.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	671					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.G287W(1)|p.G671W(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATTATCTGTGGGGCCACAGCC	0.507																																																2	Substitution - Missense(2)	kidney(2)											157	149	152					14																	21793025		1942	4140	6082	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2011G>T	14.37:g.21793025G>T	ENSP00000382895:p.Gly671Trp		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120922	0.77436	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000554303	D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74	5.53	5.53	0.82687	.	0.107198	0.64402	D	0.000006	D	0.97573	0.9205	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.997;0.998;1.0	D	0.97864	1.0282	10	0.87932	D	0	-23.9603	18.396	0.90499	0.0:0.0:1.0:0.0	.	54;146;287;671	Q96KN7-2;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	W	633;671;671;146;133	ENSP00000451219:G633W;ENSP00000382895:G671W;ENSP00000206660:G671W;ENSP00000451262:G146W;ENSP00000450426:G133W	ENSP00000206660:G671W	G	+	1	0	RPGRIP1	20862865	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.545000	0.90657	2.882000	0.98803	0.655000	0.94253	GGG		0.507	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		T	21793025	G	T	21793025	3	4	356	1	0	0	0	0	1	0	0	0	13555	1232	43	4	2065	4	RPGRIP1	14	21793025	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10		21793025	85556515	40	20200											
C14orf37	145407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58563699	58563699	+	Splice_Site	SNP	T	T	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr14:58563699T>C	ENST00000267485.7	-	5	2026	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	611	Glu-rich.					integral component of membrane (GO:0016021)		p.E611G(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ttcttGTCCCTCTAGGCAAAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											141	110	121					14																	58563699		2203	4300	6503	SO:0001630	splice_region_variant	145407				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1832-1A>G	14.37:g.58563699T>C			A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	9.903	1.207475	0.22205	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.22539	1.95	4.97	4.97	0.65823	.	0.438115	0.21450	N	0.074357	T	0.34308	0.0893	L	0.28740	0.885	0.37938	D	0.932226	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.26018	-1.0115	10	0.56958	D	0.05	.	13.7737	0.63039	0.0:0.0:0.0:1.0	.	649;611;611	B4DMS4;A8K990;Q86TY3	.;.;CN037_HUMAN	G	611;649	ENSP00000267485:E611G	ENSP00000267485:E611G	E	-	2	0	C14orf37	57633452	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.125000	0.64715	1.985000	0.57927	0.459000	0.35465	GAG		0.363	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	Missense_Mutation	C	58563699	T	C	58563699	5	2	356	1	0	0	0	0	0	0	1	0	1773	1565	54	3	508	3	C14orf37	14	58563699	Splice_Site	SNP	T	TCGA-BP-4770-01A-01D-1501-10	36770674	58563699	48785841	41	20201											
RGS6	9628	broad.mit.edu	37	14	72976891	72976891	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr14:72976891G>T	ENST00000553530.1	+	14	1202	c.995G>T	c.(994-996)aGa>aTa	p.R332I	RGS6_ENST00000554782.1_Missense_Mutation_p.R193I|RGS6_ENST00000434263.2_Missense_Mutation_p.R263I|RGS6_ENST00000555571.1_Missense_Mutation_p.R332I|RGS6_ENST00000402788.2_Missense_Mutation_p.R332I|RGS6_ENST00000556437.1_Missense_Mutation_p.R332I|RGS6_ENST00000407322.4_Missense_Mutation_p.R332I|RGS6_ENST00000404301.2_Missense_Mutation_p.R332I|RGS6_ENST00000343854.6_Missense_Mutation_p.R295I|RGS6_ENST00000553525.1_Missense_Mutation_p.R332I|RGS6_ENST00000406236.4_Missense_Mutation_p.R332I|RGS6_ENST00000355512.6_Missense_Mutation_p.R332I	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	332					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R332I(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CGAGTAAAAAGATGGGGCTTC	0.458																																					Ovarian(143;1926 2468 21071 48641)											1	Substitution - Missense(1)	kidney(1)											114	130	124					14																	72976891		2203	4300	6503	SO:0001583	missense	9628			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.995G>T	14.37:g.72976891G>T	ENSP00000452331:p.Arg332Ile		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679683	0.68042	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.72	5.72	0.89469	Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.080891	0.85682	D	0.000000	T	0.40546	0.1121	M	0.77103	2.36	0.80722	D	1	P;P;P;P	0.44281	0.831;0.462;0.51;0.481	B;B;B;B	0.38156	0.212;0.266;0.094;0.189	T	0.49597	-0.8923	10	0.87932	D	0	-10.59	20.244	0.98389	0.0:0.0:1.0:0.0	.	263;332;337;332	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	I	332;332;332;332;332;332;332;332;332;295;304;263;193;193	ENSP00000451030:R332I;ENSP00000450936:R332I;ENSP00000452331:R332I;ENSP00000451855:R332I;ENSP00000347699:R332I;ENSP00000385243:R332I;ENSP00000384218:R332I;ENSP00000384612:R332I;ENSP00000383953:R332I;ENSP00000341199:R295I;ENSP00000412144:R263I;ENSP00000451912:R193I	ENSP00000341199:R295I	R	+	2	0	RGS6	72046644	1.000000	0.71417	0.992000	0.48379	0.912000	0.54170	5.401000	0.66326	2.865000	0.98341	0.655000	0.94253	AGA		0.458	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			T	72976891	G	T	72976891	3	4	356	1	0	0	0	0	1	0	0	0	13315	942	33	4	1045	4	RGS6	14	72976891	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10	14413192	72976891	34372649	42	20202											
SERPINA3	12	broad.mit.edu;hgsc.bcm.edu	37	14	95080851	95080851	+	Missense_Mutation	SNP	C	C	A	rs144060757	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr14:95080851C>A	ENST00000467132.1	+	2	1221	c.73C>A	c.(73-75)Cct>Act	p.P25T	SERPINA3_ENST00000393080.4_Missense_Mutation_p.P25T|SERPINA3_ENST00000393078.3_Missense_Mutation_p.P25T|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	25					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P25T(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCTCTGCCACCCTAACAGCCC	0.562																																																1	Substitution - Missense(1)	kidney(1)											94	93	93					14																	95080851		2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.73C>A	14.37:g.95080851C>A	ENSP00000450540:p.Pro25Thr		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515044	0.44763	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	4.51	1.52	0.23074	Serpin domain (1);	1.169340	0.06367	N	0.712906	D	0.85080	0.5615	N	0.19112	0.55	0.33817	D	0.628575	P;D	0.54601	0.857;0.967	P;P	0.56163	0.558;0.793	T	0.78478	-0.2188	10	0.87932	D	0	.	6.7281	0.23369	0.0:0.674:0.0:0.326	.	25;50	P01011;G3V5I3	AACT_HUMAN;.	T	50;25;25;25;25;25	ENSP00000452367:P50T;ENSP00000376793:P25T;ENSP00000376795:P25T;ENSP00000450540:P25T	ENSP00000369712:P25T	P	+	1	0	SERPINA3	94150604	0.000000	0.05858	0.193000	0.23327	0.058000	0.15608	0.338000	0.19858	0.183000	0.20059	0.561000	0.74099	CCT		0.562	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		A	95080851	C	A	95080851	3	1	356	1	0	0	0	0	1	0	0	0	14096	623	22	4	75	4	SERPINA3	14	95080851	Missense_Mutation	SNP	C	TCGA-BP-4770-01A-01D-1501-10	22103960	95080851	12268689	43	20203											
ULK3	25989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75134629	75134629	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr15:75134629C>G	ENST00000440863.2	-	2	326	c.235G>C	c.(235-237)Gac>Cac	p.D79H	ULK3_ENST00000568667.1_Missense_Mutation_p.D90H|ULK3_ENST00000569437.1_Missense_Mutation_p.D79H	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D79H(1)		breast(2)	2						ACCTGAAAGTCTTTCAGCTGC	0.562																																																1	Substitution - Missense(1)	kidney(1)											110	110	110					15																	75134629		1992	4161	6153	SO:0001583	missense	25989			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.235G>C	15.37:g.75134629C>G	ENSP00000400312:p.Asp79His		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085447	0.94100	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.28255	1.62	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;0.971;1.0	D;D;D	0.97110	0.999;0.949;1.0	T	0.60505	-0.7250	10	0.87932	D	0	-14.6034	18.0244	0.89264	0.0:1.0:0.0:0.0	.	90;79;79	B4DFT0;Q6PHR2;Q6PHR2-3	.;ULK3_HUMAN;.	H	79;90	ENSP00000400312:D79H	ENSP00000393658:D90H	D	-	1	0	ULK3	72921682	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.488000	0.66869	2.495000	0.84180	0.655000	0.94253	GAC		0.562	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		G	75134629	C	G	75134629	3	3	356	1	0	0	0	0	1	0	0	0	16982	913	32	4	1243	4	ULK3	15	75134629	Missense_Mutation	SNP	C	TCGA-BP-4770-01A-01D-1501-10		75134629	27396763	44	20204											
PDE8A	5151	broad.mit.edu;hgsc.bcm.edu	37	15	85659326	85659326	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr15:85659326A>T	ENST00000310298.4	+	17	1763	c.1511A>T	c.(1510-1512)gAa>gTa	p.E504V	PDE8A_ENST00000557957.1_Missense_Mutation_p.E432V|PDE8A_ENST00000394553.1_Missense_Mutation_p.E504V|PDE8A_ENST00000339708.5_Missense_Mutation_p.E458V			O60658	PDE8A_HUMAN	phosphodiesterase 8A	504					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E504V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GATATTTTTGAACTGGAGGCT	0.502																																																1	Substitution - Missense(1)	kidney(1)											79	75	77					15																	85659326		2203	4299	6502	SO:0001583	missense	5151			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1511A>T	15.37:g.85659326A>T	ENSP00000311453:p.Glu504Val		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272143	0.59649	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.79033	-1.23;-1.23;-1.23	4.93	4.93	0.64822	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.348813	0.33309	N	0.005058	T	0.81931	0.4927	M	0.75264	2.295	0.53688	D	0.99997	P;P	0.35481	0.504;0.455	P;B	0.45232	0.474;0.24	D	0.83914	0.0297	10	0.72032	D	0.01	.	12.5881	0.56428	1.0:0.0:0.0:0.0	.	458;504	O60658-2;O60658	.;PDE8A_HUMAN	V	504;504;458	ENSP00000311453:E504V;ENSP00000378056:E504V;ENSP00000340679:E458V	ENSP00000311453:E504V	E	+	2	0	PDE8A	83460330	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.982000	0.56909	2.052000	0.61016	0.523000	0.50628	GAA		0.502	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		T	85659326	A	T	85659326	3	4	356	1	0	0	0	0	1	0	0	0	11655	246	9	5	1573	5	PDE8A	15	85659326	Missense_Mutation	SNP	A	TCGA-BP-4770-01A-01D-1501-10	10524697	85659326	16872066	45	20205											
TEKT5	146279	broad.mit.edu;ucsc.edu	37	16	10788637	10788637	+	Missense_Mutation	SNP	T	T	C	rs145065368		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr16:10788637T>C	ENST00000283025.2	-	1	165	c.94A>G	c.(94-96)Atc>Gtc	p.I32V	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	32						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.I32V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CATTCCTGGATCACTGGCGCC	0.557																																																1	Substitution - Missense(1)	kidney(1)						T	VAL/ILE	0,4394		0,0,2197	73	67	69		94	-1.6	0	16	dbSNP_134	69	1,8599		0,1,4299	no	missense	TEKT5	NM_144674.1	29	0,1,6496	CC,CT,TT		0.0116,0.0,0.0077	benign	32/486	10788637	1,12993	2197	4300	6497	SO:0001583	missense	146279				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.94A>G	16.37:g.10788637T>C	ENSP00000283025:p.Ile32Val		A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	0.131	-1.113992	0.01799	0.0	1.16E-4	ENSG00000153060	ENST00000283025	T	0.02787	4.16	4.91	-1.56	0.08532	.	1.062040	0.07342	N	0.880868	T	0.01320	0.0043	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47959	-0.9076	10	0.06757	T	0.87	-2.5581	9.6442	0.39857	0.0:0.4575:0.0:0.5425	.	32	Q96M29	TEKT5_HUMAN	V	32	ENSP00000283025:I32V	ENSP00000283025:I32V	I	-	1	0	TEKT5	10696138	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.202000	0.03023	-0.652000	0.05408	-0.408000	0.06270	ATC		0.557	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		C	10788637	T	C	10788637	3	2	356	1	0	0	0	0	1	0	0	0	15761	1435	50	3	1391	3	TEKT5	16	10788637	Missense_Mutation	SNP	T	TCGA-BP-4770-01A-01D-1501-10		10788637	79566116	46	20206											
SPEM1	374768	broad.mit.edu;ucsc.edu	37	17	7324820	7324820	+	Missense_Mutation	SNP	C	C	T	rs527349281		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr17:7324820C>T	ENST00000323675.3	+	3	851	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	276					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R276W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GGAACTGACCCGGGAGGTGGA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		16623	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											26	30	28					17																	7324820		1944	4121	6065	SO:0001583	missense	374768			AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.826C>T	17.37:g.7324820C>T	ENSP00000315554:p.Arg276Trp			Missense_Mutation	SNP	ENST00000323675.3	37	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853335	0.51270	.	.	ENSG00000181323	ENST00000323675	.	.	.	4.79	2.64	0.31445	.	0.569544	0.14649	N	0.306722	T	0.48259	0.1490	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.70487	0.969	T	0.24512	-1.0158	9	0.72032	D	0.01	-10.9027	9.5343	0.39213	0.4062:0.5938:0.0:0.0	.	276	Q8N4L4	SPEM1_HUMAN	W	276	.	ENSP00000315554:R276W	R	+	1	2	SPEM1	7265544	0.005000	0.15991	0.913000	0.36048	0.284000	0.27059	-0.002000	0.12924	1.345000	0.45676	0.655000	0.94253	CGG		0.622	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		T	7324820	C	T	7324820	3	4	356	1	0	0	0	0	1	0	0	0	15042	643	23	1	836	1	SPEM1	17	7324820	Missense_Mutation	SNP	C	TCGA-BP-4770-01A-01D-1501-10		7324820	73870390	47	20207											
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr17:7577498C>A	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	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						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.?(29)|p.0?(8)|p.E258fs*71(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)	TGGCTCCTGACCTGGAGTCTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)											121	85	97					17																	7577498		2203	4300	6503	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.782+1G>T	17.37:g.7577498C>A			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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928881	0.34002	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	A	7577498	C	A	7577498	5	1	356	1	0	0	0	0	0	0	1	0	16386	521	18	4	507	4	TP53	17	7577498	Splice_Site	SNP	C	TCGA-BP-4770-01A-01D-1501-10	252678	7577498	73617712	48	20208											
WNK4	65266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40945664	40945664	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr17:40945664C>T	ENST00000246914.5	+	12	2233	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	738					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.R726W(1)|p.R738W(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGACGGATTCGGGAGATTAT	0.547																																					Esophageal Squamous(6;201 374 4964 23855 42828)											2	Substitution - Missense(2)	kidney(2)											96	84	88					17																	40945664		2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2212C>T	17.37:g.40945664C>T	ENSP00000246914:p.Arg738Trp		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264378	0.80358	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.33216	1.42	4.46	4.46	0.54185	.	0.190082	0.25830	N	0.028035	T	0.50154	0.1599	L	0.60455	1.87	0.33887	D	0.636844	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;P;P;P	0.65010	0.931;0.878;0.759;0.642	T	0.65199	-0.6226	10	0.87932	D	0	-11.5134	16.0356	0.80625	0.0:1.0:0.0:0.0	.	82;738;738;738	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	W	738;510;82	ENSP00000246914:R738W	ENSP00000246914:R738W	R	+	1	2	WNK4	38199190	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.584000	0.46102	2.302000	0.77476	0.561000	0.74099	CGG		0.547	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			T	40945664	C	T	40945664	3	4	356	1	0	0	0	0	1	0	0	0	17385	875	31	1	2258	1	WNK4	17	40945664	Missense_Mutation	SNP	C	TCGA-BP-4770-01A-01D-1501-10	33368166	40945664	40249546	49	20209											
UNC13D	201294	broad.mit.edu	37	17	73830529	73830529	+	Silent	SNP	C	C	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr17:73830529C>T	ENST00000207549.4	-	23	2554	c.2175G>A	c.(2173-2175)gaG>gaA	p.E725E	UNC13D_ENST00000412096.2_Silent_p.E725E	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	725					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.E725E(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTACCCGCTGCTCCAGGGCCT	0.672									Familial Hemophagocytic Lymphohistiocytosis																																							1	Substitution - coding silent(1)	kidney(1)											9	9	9					17																	73830529		2176	4270	6446	SO:0001819	synonymous_variant	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2175G>A	17.37:g.73830529C>T			B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	CCDS11730.1																																																																																				0.672	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		T	73830529	C	T	73830529	2	4	356	1	0	0	0	0	0	0	0	1	16992	796	28	2		2	UNC13D	17	73830529	Silent	SNP	C	TCGA-BP-4770-01A-01D-1501-10	32884865	73830529	7364681	50	20210											
SERPINB13	5275	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61255920	61255920	+	Missense_Mutation	SNP	G	G	A	rs139825462		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr18:61255920G>A	ENST00000344731.5	+	2	121	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	SERPINB13_ENST00000269489.5_Missense_Mutation_p.V7I	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	7					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V7I(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACTTGGCGCCGTCAGCACTCG	0.418																																																3	Substitution - Missense(3)	prostate(2)|kidney(1)						G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	94	90	91		19	2.1	0	18	dbSNP_134	91	0,8600		0,0,4300	no	missense	SERPINB13	NM_012397.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	7/392	61255920	3,13003	2203	4300	6503	SO:0001583	missense	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.19G>A	18.37:g.61255920G>A	ENSP00000341584:p.Val7Ile		A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380737	0.24944	6.81E-4	0.0	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731	T;T;D	0.82081	-0.79;2.82;-1.57	4.89	2.12	0.27331	Serpin domain (1);	0.365172	0.23587	N	0.046598	T	0.69178	0.3082	N	0.20881	0.62	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.59547	-0.7434	10	0.59425	D	0.04	.	6.7555	0.23512	0.0764:0.1282:0.6636:0.1318	.	7;7	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	I	37;7;7;7	ENSP00000388300:V37I;ENSP00000269489:V7I;ENSP00000341584:V7I	ENSP00000269489:V7I	V	+	1	0	SERPINB13	59406900	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.742000	0.26216	0.261000	0.21753	-1.149000	0.01842	GTC		0.418	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		A	61255920	G	A	61255920	3	1	356	1	0	0	0	0	1	0	0	0	14106	1145	40	1	21	1	SERPINB13	18	61255920	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10		61255920	16821328	51	20211											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9047434	9047434	+	Silent	SNP	A	A	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:9047434A>G	ENST00000397910.4	-	5	34400	c.34197T>C	c.(34195-34197)gaT>gaC	p.D11399D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11401	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D7032D(1)|p.D11399D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATCTGGTACATCAGGTGAGA	0.453																																																2	Substitution - coding silent(2)	kidney(2)											234	218	223					19																	9047434		1937	4149	6086	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34197T>C	19.37:g.9047434A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9047434	A	G	9047434	2	3	356	1	0	0	0	0	0	0	0	1	9975	214	8	3		3	MUC16	19	9047434	Silent	SNP	A	TCGA-BP-4770-01A-01D-1501-10		9047434	50081549	52	20212											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9074345	9074345	+	Silent	SNP	T	T	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:9074345T>C	ENST00000397910.4	-	3	13304	c.13101A>G	c.(13099-13101)acA>acG	p.T4367T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4369	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T4367T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTCACATCTGTAAATGTGT	0.478																																																2	Substitution - coding silent(2)	kidney(2)											140	135	137					19																	9074345		2016	4176	6192	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13101A>G	19.37:g.9074345T>C			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9074345	T	C	9074345	2	2	356	1	0	0	0	0	0	0	0	1	9975	1567	55	3		3	MUC16	19	9074345	Silent	SNP	T	TCGA-BP-4770-01A-01D-1501-10	26911	9074345	50054638	53	20213											
CYP4F2	8529	broad.mit.edu;hgsc.bcm.edu	37	19	15989682	15989682	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:15989682G>A	ENST00000221700.6	-	13	1557	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R488C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACGCGGAAGCGCAGCAGCGTG	0.682																																																1	Substitution - Missense(1)	kidney(1)											44	41	42					19																	15989682		2203	4300	6503	SO:0001583	missense	8529			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1462C>T	19.37:g.15989682G>A	ENSP00000221700:p.Arg488Cys			Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	12.94	2.088328	0.36855	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.71103	-0.54	2.63	1.41	0.22369	.	0.173875	0.35235	U	0.003349	T	0.71082	0.3298	M	0.82716	2.605	0.80722	D	1	B	0.34255	0.445	B	0.39971	0.315	T	0.74022	-0.3798	10	0.87932	D	0	.	6.4858	0.22087	0.0:0.0:0.5554:0.4446	.	488	P78329	CP4F2_HUMAN	C	488;339	ENSP00000221700:R488C	ENSP00000221700:R488C	R	-	1	0	CYP4F2	15850682	0.649000	0.27322	0.996000	0.52242	0.524000	0.34500	1.811000	0.38942	1.453000	0.47775	0.491000	0.48974	CGC		0.682	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		A	15989682	G	A	15989682	3	1	356	1	0	0	0	0	1	0	0	0	4190	1087	38	1	104	1	CYP4F2	19	15989682	Missense_Mutation	SNP	G	TCGA-BP-4770-01A-01D-1501-10	6915337	15989682	43139301	54	20214											
ZNF99	7652	broad.mit.edu;hgsc.bcm.edu	37	19	22940439	22940439	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:22940439C>G	ENST00000596209.1	-	4	2362	c.2272G>C	c.(2272-2274)Gag>Cag	p.E758Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.E667Q|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E667Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CAGGGTTTCTCTGCAGTATGA	0.353																																																1	Substitution - Missense(1)	kidney(1)											28	29	29					19																	22940439		1937	4108	6045	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2272G>C	19.37:g.22940439C>G	ENSP00000472969:p.Glu758Gln		M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	12.35	1.911917	0.33721	.	.	ENSG00000213973	ENST00000397104	T	0.20200	2.09	0.718	0.718	0.18202	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32285	0.0824	L	0.52823	1.66	0.27664	N	0.946978	D	0.54047	0.964	P	0.57244	0.816	T	0.13495	-1.0507	9	0.72032	D	0.01	.	8.9543	0.35807	0.0:1.0:0.0:0.0	.	667	A8MXY4	ZNF99_HUMAN	Q	667	ENSP00000380293:E667Q	ENSP00000380293:E667Q	E	-	1	0	ZNF99	22732279	0.836000	0.29430	0.050000	0.19076	0.049000	0.14656	1.126000	0.31344	0.675000	0.31264	0.395000	0.25975	GAG		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		G	22940439	C	G	22940439	3	3	356	1	0	0	0	0	1	0	0	0	18209	922	32	4	1125	4	ZNF99	19	22940439	Missense_Mutation	SNP	C	TCGA-BP-4770-01A-01D-1501-10	6950757	22940439	36188544	55	20215											
IL28B	282617	broad.mit.edu;hgsc.bcm.edu	37	19	39735134	39735134	+	Splice_Site	SNP	C	C	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:39735134C>T	ENST00000413851.2	-	2	219	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	61					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.E61K(1)									AGCGACTCTTCCTAGACAGCA	0.602																																																1	Substitution - Missense(1)	kidney(1)											24	31	29					19																	39735134		2200	4298	6498	SO:0001630	splice_region_variant	0			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.181-1G>A	19.37:g.39735134C>T			A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827125	0.71143	.	.	ENSG00000197110	ENST00000413851	T	0.50001	0.76	3.01	3.01	0.34805	.	0.000000	0.56097	D	0.000040	T	0.68632	0.3022	M	0.86953	2.85	0.31617	N	0.650811	D	0.89917	1.0	D	0.97110	1.0	T	0.73874	-0.3845	10	0.87932	D	0	-6.2873	9.5762	0.39459	0.0:1.0:0.0:0.0	.	61	Q8IZI9	IL28B_HUMAN	K	61	ENSP00000409000:E61K	ENSP00000409000:E61K	E	-	1	0	IL28B	44426974	0.974000	0.33945	0.349000	0.25694	0.371000	0.29859	2.057000	0.41365	1.702000	0.51228	0.205000	0.17691	GAA		0.602	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139	Missense_Mutation	T	39735134	C	T	39735134	5	4	356	1	0	0	0	0	0	0	1	0	7685	869	30	2	424	2	IL28B	19	39735134	Splice_Site	SNP	C	TCGA-BP-4770-01A-01D-1501-10	16794695	39735134	19393849	56	20216											
ALDH16A1	126133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49972161	49972161	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:49972161T>A	ENST00000293350.4	+	16	2328	c.2165T>A	c.(2164-2166)gTg>gAg	p.V722E	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.V557E|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.V671E|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.V559E|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	722						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.V722E(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GCCAACGTGGTGACAGGAGAC	0.612																																																1	Substitution - Missense(1)	kidney(1)											145	128	134					19																	49972161		2203	4300	6503	SO:0001583	missense	126133			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2165T>A	19.37:g.49972161T>A	ENSP00000293350:p.Val722Glu		B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114398	0.77210	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.8	4.8	0.61643	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.549086	0.18289	N	0.145764	T	0.70527	0.3234	M	0.92649	3.33	0.37655	D	0.922564	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.948;0.998;0.969	T	0.79412	-0.1814	10	0.87932	D	0	-18.1566	11.063	0.47959	0.0:0.0:0.0:1.0	.	559;671;722	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	E	722;671;559;557	ENSP00000293350:V722E;ENSP00000410142:V671E;ENSP00000445088:V559E;ENSP00000398675:V557E	ENSP00000293350:V722E	V	+	2	0	ALDH16A1	54663973	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.016000	0.49607	1.937000	0.56155	0.374000	0.22700	GTG		0.612	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		A	49972161	T	A	49972161	3	1	356	1	0	0	0	0	1	0	0	0	488	1696	59	5	2227	5	ALDH16A1	19	49972161	Missense_Mutation	SNP	T	TCGA-BP-4770-01A-01D-1501-10	10237027	49972161	9156822	57	20217											
ARFGEF2	10564	broad.mit.edu;ucsc.edu	37	20	47605027	47605027	+	Splice_Site	DEL	G	G	-			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr20:47605027delG	ENST00000371917.4	+	18	2361		c.e18-1			NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTTAATTACAGGTAAAAAATA	0.289																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													32	35	34					20																	47605027		2167	4283	6450	SO:0001630	splice_region_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2362-1G>-	20.37:g.47605027delG			Q5TFT9|Q9NTS1	Splice_Site	DEL	ENST00000371917.4	37	CCDS13411.1																																																																																				0.289	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	Intron	-	47605027	G	-	47605027	8	5	356	1	0	1	0	1	0	0	1	0	853	1014	35	0	2431	0	ARFGEF2	20	47605027	Splice_Site	DEL	G	TCGA-BP-4770-01A-01D-1501-10		47605027	15420493	58	20218	159	4	1	34		5	2	31	N	T_G_AAATAAAATGACGAAAGAGCAGTAT_A	5.814396e-05
ARFGEF2	10564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47605030	47605030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr20:47605030delA	ENST00000371917.4	+	18	2364	c.2364delA	c.(2362-2364)gtafs	p.V788fs		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	788					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AATTACAGGTAAAAAATAAAA	0.294																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													33	36	35					20																	47605030		2164	4282	6446	SO:0001589	frameshift_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2364delA	20.37:g.47605030delA	ENSP00000360985:p.Val788fs		Q5TFT9|Q9NTS1	Frame_Shift_Del	DEL	ENST00000371917.4	37	CCDS13411.1																																																																																				0.294	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		-	47605030	A	-	47605030	7	5	356	1	0	1	0	1	0	0	0	0	853	349	13	0	2434	0	ARFGEF2	20	47605030	Frame_Shift_Del	DEL	A	TCGA-BP-4770-01A-01D-1501-10	3	47605030	15420490	59	20219	159	4	1	34		5	2	31	N	T_G_AAATAAAATGACGAAAGAGCAGTAT_A	5.814396e-05
ARFGEF2	10564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47605033	47605057	+	Frame_Shift_Del	DEL	AAATAAAATGACGAAAGAGCAGTAT	AAATAAAATGACGAAAGAGCAGTAT	-	rs148252934|rs532986318|rs550947400		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	AAATAAAATGACGAAAGAGCAGTAT	AAATAAAATGACGAAAGAGCAGTAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr20:47605033_47605057delAAATAAAATGACGAAAGAGCAGTAT	ENST00000371917.4	+	18	2367_2391	c.2367_2391delAAATAAAATGACGAAAGAGCAGTAT	c.(2365-2391)aaaaataaaatgacgaaagagcagtatfs	p.KNKMTKEQY789fs		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	789					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.K794E(2)|p.T793R(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TACAGGTAAAAAATAAAATGACGAAAGAGCAGTATATTAAAATGA	0.293																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											3	Substitution - Missense(3)	breast(2)|ovary(1)																																								SO:0001589	frameshift_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2367_2391delAAATAAAATGACGAAAGAGCAGTAT	20.37:g.47605033_47605057delAAATAAAATGACGAAAGAGCAGTAT	ENSP00000360985:p.Lys789fs		Q5TFT9|Q9NTS1	Frame_Shift_Del	DEL	ENST00000371917.4	37	CCDS13411.1																																																																																				0.293	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		-	47605057	AAATAAAATGACGAAAGAGCAGTAT	-	47605033	7	5	356	1	0	1	0	1	0	0	0	0	853	11	1	0	2437	0	ARFGEF2	20	47605033	Frame_Shift_Del	DEL	AAATAAAATGACGAAAGAGCAGTAT	TCGA-BP-4770-01A-01D-1501-10	3	47605033	15420487	60	20220	159	4	1	34		5	2	31	N	T_G_AAATAAAATGACGAAAGAGCAGTAT_A	5.814396e-05
ARFGEF2	10564	hgsc.bcm.edu	37	20	47605035	47605035	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr20:47605035A>T	ENST00000371917.4	+	18	2369	c.2369A>T	c.(2368-2370)aAt>aTt	p.N790I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	790					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGGTAAAAAATAAAATGACG	0.284																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													35	39	37					20																	47605035		2170	4285	6455	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2369A>T	20.37:g.47605035A>T	ENSP00000360985:p.Asn790Ile		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.510971	0.85389	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.57595	0.39	5.73	5.73	0.89815	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.89840	3.065	0.80722	D	1	D	0.57257	0.979	D	0.66196	0.942	T	0.82129	-0.0610	10	0.72032	D	0.01	.	16.3265	0.82983	1.0:0.0:0.0:0.0	.	790	Q9Y6D5	BIG2_HUMAN	I	790	ENSP00000360985:N790I	ENSP00000360985:N790I	N	+	2	0	ARFGEF2	47038442	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.287000	0.95975	2.313000	0.78055	0.455000	0.32223	AAT		0.284	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		T	47605035	A	T	47605035	3	4	356	1	0	0	0	0	1	0	0	0	853	101	4	5	2439	5	ARFGEF2	20	47605035	Missense_Mutation	SNP	A	TCGA-BP-4770-01A-01D-1501-10	2	47605035	15420485	61	20221	159	4	1	34		5	2	31	N	T_G_AAATAAAATGACGAAAGAGCAGTAT_A	5.814396e-05
ARFGEF2	10564	hgsc.bcm.edu	37	20	47605057	47605057	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr20:47605057T>A	ENST00000371917.4	+	18	2391	c.2391T>A	c.(2389-2391)taT>taA	p.Y797*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	797					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGAGCAGTATATTAAAATGA	0.303																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													50	54	53					20																	47605057		2198	4298	6496	SO:0001587	stop_gained	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2391T>A	20.37:g.47605057T>A	ENSP00000360985:p.Tyr797*		Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	38	7.053603	0.98029	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	.	.	.	5.74	3.47	0.39725	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8162	0.40853	0.0:0.2531:0.0:0.7469	.	.	.	.	X	797	.	ENSP00000360985:Y797X	Y	+	3	2	ARFGEF2	47038464	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.366000	0.20365	0.524000	0.28502	0.460000	0.39030	TAT		0.303	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47605057	T	A	47605057	4	1	356	1	0	0	0	0	0	1	0	0	853	1413	49	5	2461	5	ARFGEF2	20	47605057	Nonsense_Mutation	SNP	T	TCGA-BP-4770-01A-01D-1501-10	22	47605057	15420463	62	20222			1	34		5	2	31	N	T_G_AAATAAAATGACGAAAGAGCAGTAT_A	5.814396e-05
TIMM17B	10245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48751506	48751506	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chrX:48751506T>C	ENST00000376582.3	-	5	341	c.193A>G	c.(193-195)Agc>Ggc	p.S65G	TIMM17B_ENST00000396779.3_Missense_Mutation_p.S115G|TIMM17B_ENST00000465150.2_Missense_Mutation_p.S115G|TIMM17B_ENST00000495490.2_Missense_Mutation_p.S85G|TIMM17B_ENST00000472645.1_5'UTR	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	65					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.S65G(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						ACTGCGAAGCTACCTGTAGTG	0.552																																																1	Substitution - Missense(1)	kidney(1)											48	43	45					X																	48751506		2203	4299	6502	SO:0001583	missense	10245			AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.193A>G	X.37:g.48751506T>C	ENSP00000365766:p.Ser65Gly		A8K2E2|J3KPV3|Q9UJV0	Missense_Mutation	SNP	ENST00000376582.3	37	CCDS14308.1	.	.	.	.	.	.	.	.	.	.	t	22.9	4.350938	0.82132	.	.	ENSG00000126768	ENST00000376582;ENST00000396779	T;T	0.32023	1.47;1.47	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	L	0.56124	1.755	0.58432	D	0.999996	D	0.57257	0.979	D	0.71414	0.973	T	0.45293	-0.9271	10	0.48119	T	0.1	-13.3291	13.0821	0.59119	0.0:0.0:0.0:1.0	.	65	O60830	TI17B_HUMAN	G	65;115	ENSP00000365766:S65G;ENSP00000379999:S115G	ENSP00000365766:S65G	S	-	1	0	TIMM17B	48636450	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	7.680000	0.84062	1.728000	0.51552	0.481000	0.45027	AGC		0.552	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2	NM_005834		C	48751506	T	C	48751506	3	2	356	1	0	0	0	0	1	0	0	0	15914	1522	53	3	337	3	TIMM17B	23	48751506	Missense_Mutation	SNP	T	TCGA-BP-4770-01A-01D-1501-10		48751506	106519054	63	20223											
PTGFR	5737	hgsc.bcm.edu	37	1	78958515	78958515	+	Silent	SNP	C	C	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr1:78958515C>A	ENST00000370757.3	+	2	324	c.87C>A	c.(85-87)tcC>tcA	p.S29S	PTGFR_ENST00000370756.3_Silent_p.S29S|PTGFR_ENST00000370758.1_Silent_p.S29S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	29					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	ACCGGCTTTCCGTATTTTTTT	0.438																																																0													80	83	82					1																	78958515		2203	4300	6503	SO:0001819	synonymous_variant	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.87C>A	1.37:g.78958515C>A			A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Silent	SNP	ENST00000370757.3	37	CCDS686.1																																																																																				0.438	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		A	78958515	C	A	78958515	2	1	357	1	0	0	0	0	0	0	0	1	12755	639	23	4		4	PTGFR	1	78958515	Silent	SNP	C	TCGA-BP-4771-01A-01D-1366-10		78958515	170292106	1	20224											
SETDB1	9869	hgsc.bcm.edu	37	1	150923431	150923431	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr1:150923431G>A	ENST00000271640.5	+	13	2268	c.2078G>A	c.(2077-2079)tGt>tAt	p.C693Y	SETDB1_ENST00000368969.4_Missense_Mutation_p.C693Y|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	693					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCCTATCCTGTGTCAATGAG	0.463																																																0													96	97	97					1																	150923431		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2078G>A	1.37:g.150923431G>A	ENSP00000271640:p.Cys693Tyr		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315114	0.81358	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	T;T;T	0.76578	-1.03;-1.03;-1.03	5.66	5.66	0.87406	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.087163	0.85682	D	0.000000	D	0.88833	0.6544	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.91635	0.999;0.994;0.996	D	0.88483	0.3070	10	0.45353	T	0.12	.	18.744	0.91785	0.0:0.0:1.0:0.0	.	693;693;693	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	Y	693	ENSP00000271640:C693Y;ENSP00000357965:C693Y;ENSP00000432348:C693Y	ENSP00000271640:C693Y	C	+	2	0	SETDB1	149190055	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.621000	0.74228	2.656000	0.90262	0.655000	0.94253	TGT		0.463	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			A	150923431	G	A	150923431	3	1	357	1	0	0	0	0	1	0	0	0	14144	1377	48	2	2124	2	SETDB1	1	150923431	Missense_Mutation	SNP	G	TCGA-BP-4771-01A-01D-1366-10	71964916	150923431	98327190	2	20225											
CR2	1380	hgsc.bcm.edu	37	1	207644230	207644230	+	Silent	SNP	G	G	T			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr1:207644230G>T	ENST00000367058.3	+	7	1560	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G	CR2_ENST00000367057.3_Silent_p.G457G|CR2_ENST00000458541.2_Silent_p.G457G|CR2_ENST00000367059.3_Silent_p.G457G	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	457	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.			Missing (in Ref. 2; CAA68674). {ECO:0000305}.	B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCTCTGAGGGGGTGTGGACAC	0.458																																																0													65	66	66					1																	207644230		2203	4300	6503	SO:0001819	synonymous_variant	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1371G>T	1.37:g.207644230G>T			C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	CCDS1478.1																																																																																				0.458	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		T	207644230	G	T	207644230	2	4	357	1	0	0	0	0	0	0	0	1	3844	1219	43	4		4	CR2	1	207644230	Silent	SNP	G	TCGA-BP-4771-01A-01D-1366-10	56720799	207644230	41606391	3	20226											
LRP1B	53353	hgsc.bcm.edu	37	2	141665553	141665553	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr2:141665553G>A	ENST00000389484.3	-	22	4384	c.3413C>T	c.(3412-3414)cCa>cTa	p.P1138L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1138	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.P1138L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCTTGGGTGGTCCACACAA	0.463										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	lung(1)											195	162	173					2																	141665553		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3413C>T	2.37:g.141665553G>A	ENSP00000374135:p.Pro1138Leu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821703	0.90873	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99051	-5.37;-3.85	5.58	5.58	0.84498	.	0.070853	0.56097	D	0.000022	D	0.98773	0.9587	L	0.44542	1.39	0.80722	D	1	B;D	0.89917	0.006;1.0	B;D	0.85130	0.05;0.997	D	0.98821	1.0747	10	0.16420	T	0.52	.	19.5654	0.95390	0.0:0.0:1.0:0.0	.	321;1138	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	L	1138;1076;283	ENSP00000374135:P1138L;ENSP00000413239:P283L	ENSP00000374135:P1138L	P	-	2	0	LRP1B	141382023	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.894000	0.87336	2.641000	0.89580	0.585000	0.79938	CCA		0.463	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141665553	G	A	141665553	3	1	357	1	0	0	0	0	1	0	0	0	8957	1348	47	2	10666	2	LRP1B	2	141665553	Missense_Mutation	SNP	G	TCGA-BP-4771-01A-01D-1366-10		141665553	101533820	4	20227											
NMUR1	10316	hgsc.bcm.edu	37	2	232393300	232393300	+	Silent	SNP	G	G	C			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr2:232393300G>C	ENST00000305141.4	-	2	565	c.432C>G	c.(430-432)gtC>gtG	p.V144V		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	144					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)	p.V144V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGGCCAGGCAGACCATCTCAA	0.622																																																1	Substitution - coding silent(1)	lung(1)											70	62	65					2																	232393300		2203	4300	6503	SO:0001819	synonymous_variant	10316			AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"GPCR / Class A : Neuromedin U receptors"	4518	protein-coding gene	gene with protein product		604153	"G protein-coupled receptor 66"	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.432C>G	2.37:g.232393300G>C			O43664|Q7LDP6|Q8NE20	Silent	SNP	ENST00000305141.4	37	CCDS2486.1																																																																																				0.622	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		C	232393300	G	C	232393300	2	2	357	1	0	0	0	0	0	0	0	1	10508	929	33	4		4	NMUR1	2	232393300	Silent	SNP	G	TCGA-BP-4771-01A-01D-1366-10	90727747	232393300	10806073	5	20228											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191558	10191558	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr3:10191558T>C	ENST00000256474.2	+	3	1391	c.551T>C	c.(550-552)cTc>cCc	p.L184P	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.L143P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	184			L -> P (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|L -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L184P(6)|p.L184R(1)|p.Y185fs*14(1)|p.S183*(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCAGGTCGCTCTACGAAGAT	0.517		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Substitution - Missense(7)|Deletion - Frameshift(2)	kidney(9)	GRCh37	CM042503|CM941389|CM961440	VHL	M							83	75	78					3																	10191558		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.551T>C	3.37:g.10191558T>C	ENSP00000256474:p.Leu184Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039597	0.55003	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99879	-7.44;-7.44	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96159	0.9114	10	0.87932	D	0	0.329	12.9354	0.58311	0.0:0.0:0.0:1.0	.	143;184	P40337-2;P40337	.;VHL_HUMAN	P	184;143;102	ENSP00000256474:L184P;ENSP00000344757:L143P	ENSP00000256474:L184P	L	+	2	0	VHL	10166558	0.992000	0.36948	0.737000	0.30932	0.208000	0.24298	5.765000	0.68834	2.209000	0.71365	0.533000	0.62120	CTC		0.517	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10191558	T	C	10191558	3	2	357	1	0	0	0	0	1	0	0	0	17167	1551	54	3	561	3	VHL	3	10191558	Missense_Mutation	SNP	T	TCGA-BP-4771-01A-01D-1366-10		10191558	187830872	6	20229											
CLCN3	1182	hgsc.bcm.edu	37	4	170611793	170611793	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr4:170611793G>A	ENST00000513761.1	+	6	1278	c.719G>A	c.(718-720)gGa>gAa	p.G240E	CLCN3_ENST00000347613.4_Missense_Mutation_p.G240E|CLCN3_ENST00000504131.2_Missense_Mutation_p.G223E|CLCN3_ENST00000360642.3_Missense_Mutation_p.G240E	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	240					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TGTGGCTCTGGAATTCCAGAG	0.368																																																0													121	112	115					4																	170611793		2203	4300	6503	SO:0001583	missense	1182			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.719G>A	4.37:g.170611793G>A	ENSP00000424603:p.Gly240Glu		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569599	0.86439	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51	5.52	4.68	0.58851	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	H	0.99454	4.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.997;0.994	D	0.98145	1.0438	10	0.87932	D	0	-7.9192	14.2016	0.65707	0.072:0.0:0.928:0.0	.	240;223;213;240;240	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	E	240;240;240;223;213	ENSP00000424603:G240E;ENSP00000261514:G240E;ENSP00000353857:G240E;ENSP00000424540:G223E;ENSP00000425323:G213E	ENSP00000261514:G240E	G	+	2	0	CLCN3	170848368	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.785000	0.99042	1.312000	0.45043	0.650000	0.86243	GGA		0.368	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			A	170611793	G	A	170611793	3	1	357	1	0	0	0	0	1	0	0	0	3466	1174	41	2	737	2	CLCN3	4	170611793	Missense_Mutation	SNP	G	TCGA-BP-4771-01A-01D-1366-10		170611793	20542483	7	20230											
FAT2	2196	hgsc.bcm.edu;ucsc.edu	37	5	150897291	150897291	+	Silent	SNP	G	G	T			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr5:150897291G>T	ENST00000261800.5	-	19	11365	c.11353C>A	c.(11353-11355)Cgg>Agg	p.R3785R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3785	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCTGTACCGCACATAGCTC	0.517																																																0													102	95	98					5																	150897291		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11353C>A	5.37:g.150897291G>T			O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	7.384	0.629337	0.14257	.	.	ENSG00000086570	ENST00000520200	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	T	0.60830	0.2299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58736	-0.7584	4	.	.	.	.	9.9272	0.41501	0.1277:0.0:0.8723:0.0	.	.	.	.	E	643	.	.	A	-	2	0	FAT2	150877484	0.497000	0.26067	0.919000	0.36401	0.664000	0.39144	1.480000	0.35464	2.436000	0.82500	0.650000	0.86243	GCG		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150897291	G	T	150897291	2	4	357	1	0	0	0	0	0	0	0	1	5692	1086	38	4		4	FAT2	5	150897291	Silent	SNP	G	TCGA-BP-4771-01A-01D-1366-10		150897291	30017969	8	20231											
C7orf28B	221960	hgsc.bcm.edu	37	7	6844681	6844681	+	Missense_Mutation	SNP	C	C	T	rs202100248	byFrequency	TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr7:6844681C>T	ENST00000316731.8	-	12	1566	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	CCZ1B_ENST00000538180.1_Missense_Mutation_p.V189I	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	332						lysosome (GO:0005764)|membrane (GO:0016020)											GTTGGGTGGACAGAGGCTGGC	0.453																																																0													50	52	51					7																	6844681		2018	3926	5944	SO:0001583	missense	0			BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"similar to CGI-43 protein"		"chromosome 7 open reading frame 28B"	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.994G>A	7.37:g.6844681C>T	ENSP00000314544:p.Val332Ile		A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000316731.8	37	CCDS5354.1	293	0.13415750915750915	63	0.12804878048780488	65	0.17955801104972377	59	0.10314685314685315	106	0.13984168865435356	c	5.036	0.192387	0.09599	.	.	ENSG00000146574	ENST00000316731;ENST00000538180	.	.	.	3.03	0.431	0.16523	.	0.477014	0.23756	N	0.044862	T	0.00039	0.0001	.	.	.	0.22142	N	0.999339	.	.	.	.	.	.	T	0.19128	-1.0315	6	0.21540	T	0.41	-0.0961	3.8822	0.09083	0.0:0.3612:0.2028:0.436	.	.	.	.	I	332;189	.	ENSP00000314544:V332I	V	-	1	0	C7orf28B	6811206	0.036000	0.19791	0.004000	0.12327	0.062000	0.15995	0.635000	0.24629	-0.366000	0.08064	-0.463000	0.05309	GTC		0.453	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1	NM_198097		T	6844681	C	T	6844681	3	4	357	1	0	0	0	0	1	0	0	0	2386	478	17	2	470	2	C7orf28B	7	6844681	Missense_Mutation	SNP	C	TCGA-BP-4771-01A-01D-1366-10		6844681	152293982	9	20232											
ADCY1	107	hgsc.bcm.edu	37	7	45697340	45697340	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr7:45697340C>A	ENST00000297323.7	+	6	1185	c.1163C>A	c.(1162-1164)gCc>gAc	p.A388D	ADCY1_ENST00000432715.1_Missense_Mutation_p.A163D	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	388					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTGGCTGAAGCCACCGAGGTG	0.612																																																0													84	66	72					7																	45697340		2203	4300	6503	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1163C>A	7.37:g.45697340C>A	ENSP00000297323:p.Ala388Asp		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212376	0.79240	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	T;T	0.80393	-1.37;-1.37	4.44	4.44	0.53790	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	L	0.38953	1.18	0.80722	D	1	B;D	0.56968	0.028;0.978	B;P	0.59643	0.035;0.861	T	0.77536	-0.2551	10	0.21014	T	0.42	.	14.9371	0.70964	0.0:1.0:0.0:0.0	.	388;163	Q08828;C9J1J0	ADCY1_HUMAN;.	D	163;388;388	ENSP00000392721:A163D;ENSP00000297323:A388D	ENSP00000297323:A388D	A	+	2	0	ADCY1	45663865	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.384000	0.66225	2.446000	0.82766	0.655000	0.94253	GCC		0.612	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		A	45697340	C	A	45697340	3	1	357	1	0	0	0	0	1	0	0	0	292	739	26	4	1185	4	ADCY1	7	45697340	Missense_Mutation	SNP	C	TCGA-BP-4771-01A-01D-1366-10	38852659	45697340	113441323	10	20233											
ADAMDEC1	27299	hgsc.bcm.edu;ucsc.edu	37	8	24254839	24254839	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr8:24254839A>G	ENST00000256412.4	+	6	717	c.497A>G	c.(496-498)gAc>gGc	p.D166G	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.D87G|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.D87G|RP11-624C23.1_ENST00000523578.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	166					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAAAGCACAGACGAGAAAGAA	0.443																																					Ovarian(147;687 1849 3699 25981 31337)											0													171	165	167					8																	24254839		2203	4300	6503	SO:0001583	missense	27299			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.497A>G	8.37:g.24254839A>G	ENSP00000256412:p.Asp166Gly		B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	A	8.326	0.825412	0.16749	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.05580	3.42;3.42;3.42	5.53	4.37	0.52481	Peptidase M12B, propeptide (1);	0.281545	0.30575	N	0.009339	T	0.10380	0.0254	M	0.65320	2	0.09310	N	1	P	0.41546	0.754	B	0.44163	0.443	T	0.10776	-1.0615	10	0.52906	T	0.07	-16.9783	8.2249	0.31562	0.9101:0.0:0.0899:0.0	.	166	O15204	ADEC1_HUMAN	G	166;87;87	ENSP00000256412:D166G;ENSP00000442592:D87G;ENSP00000428993:D87G	ENSP00000256412:D166G	D	+	2	0	ADAMDEC1	24310784	0.521000	0.26258	0.006000	0.13384	0.050000	0.14768	2.342000	0.43992	0.941000	0.37499	0.455000	0.32223	GAC		0.443	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		G	24254839	A	G	24254839	3	3	357	1	0	0	0	0	1	0	0	0	254	275	10	3	519	3	ADAMDEC1	8	24254839	Missense_Mutation	SNP	A	TCGA-BP-4771-01A-01D-1366-10		24254839	122109183	11	20234											
TRIB1	10221	hgsc.bcm.edu	37	8	126448323	126448323	+	Silent	SNP	T	T	C			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr8:126448323T>C	ENST00000519576.1	+	2	299	c.36T>C	c.(34-36)caT>caC	p.H12H	TRIB1_ENST00000520847.1_Silent_p.H77H|TRIB1_ENST00000311922.3_Silent_p.H243H					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CAGACAAACATGGCTGCCCAG	0.532																																																0													76	69	71					8																	126448323		2203	4300	6503	SO:0001819	synonymous_variant	10221			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"tribbles homolog 1 (Drosophila)"			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000519576.1:c.36T>C	8.37:g.126448323T>C				Silent	SNP	ENST00000519576.1	37																																																																																					0.532	TRIB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381433.1	NM_025195		C	126448323	T	C	126448323	2	2	357	1	0	0	0	0	0	0	0	1	16487	1461	51	3		3	TRIB1	8	126448323	Silent	SNP	T	TCGA-BP-4771-01A-01D-1366-10	102193484	126448323	19915699	12	20235											
FBXW5	54461	hgsc.bcm.edu	37	9	139837902	139837902	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr9:139837902C>A	ENST00000325285.3	-	3	329	c.250G>T	c.(250-252)Gag>Tag	p.E84*	C8G_ENST00000224181.3_5'Flank|FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	84					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTCTGCACCTCCACGCAGGGC	0.642																																																0													78	53	62					9																	139837902		2200	4299	6499	SO:0001587	stop_gained	54461			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.250G>T	9.37:g.139837902C>A	ENSP00000313034:p.Glu84*		B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Nonsense_Mutation	SNP	ENST00000325285.3	37	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	c	41	9.143748	0.99080	.	.	ENSG00000159069	ENST00000325285;ENST00000428398;ENST00000443788	.	.	.	4.85	4.85	0.62838	.	0.050490	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-12.7364	17.9754	0.89126	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000313034:E84X	E	-	1	0	FBXW5	138957723	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	7.227000	0.78070	2.224000	0.72417	0.556000	0.70494	GAG		0.642	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		A	139837902	C	A	139837902	4	1	357	1	0	0	0	0	0	1	0	0	5770	864	30	4	1478	4	FBXW5	9	139837902	Nonsense_Mutation	SNP	C	TCGA-BP-4771-01A-01D-1366-10		139837902	1375529	13	20236											
MYO3A	53904	hgsc.bcm.edu	37	10	26385322	26385322	+	Silent	SNP	T	T	C			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr10:26385322T>C	ENST00000265944.5	+	16	1741	c.1575T>C	c.(1573-1575)aaT>aaC	p.N525N	MYO3A_ENST00000543632.1_Silent_p.N525N	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	525	Myosin motor.		N -> K (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N525K(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGAAAAAAATTTTCATATTT	0.318																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)											31	34	33					10																	26385322		2195	4288	6483	SO:0001819	synonymous_variant	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1575T>C	10.37:g.26385322T>C			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																				0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		C	26385322	T	C	26385322	2	2	357	1	0	0	0	0	0	0	0	1	10078	1490	52	3		3	MYO3A	10	26385322	Silent	SNP	T	TCGA-BP-4771-01A-01D-1366-10		26385322	109149425	14	20237											
HK1	3098	hgsc.bcm.edu	37	10	71048514	71048514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr10:71048514C>A	ENST00000448642.2	+	4	404	c.15C>A	c.(13-15)tgC>tgA	p.C5*	HK1_ENST00000360289.2_5'UTR|HK1_ENST00000404387.2_Nonsense_Mutation_p.C5*			P19367	HXK1_HUMAN	hexokinase 1	0	Hydrophobic.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGCAGATCTGCCAGCGAGAAT	0.522																																																0													92	81	85					10																	71048514		2203	4300	6503	SO:0001587	stop_gained	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000448642.2:c.15C>A	10.37:g.71048514C>A	ENSP00000402103:p.Cys5*		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Nonsense_Mutation	SNP	ENST00000448642.2	37		.	.	.	.	.	.	.	.	.	.	C	38	7.138440	0.98088	.	.	ENSG00000156515	ENST00000450646;ENST00000448642;ENST00000404387	.	.	.	4.09	3.19	0.36642	.	0.953555	0.08797	N	0.892322	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	7.9966	0.30271	0.0:0.8897:0.0:0.1103	.	.	.	.	X	5	.	ENSP00000384774:C5X	C	+	3	2	HK1	70718520	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	1.566000	0.36396	1.313000	0.45069	0.655000	0.94253	TGC		0.522	HK1-204	KNOWN	basic	protein_coding	protein_coding		NM_000188		A	71048514	C	A	71048514	4	1	357	1	0	0	0	0	0	1	0	0	7192	747	26	4	17	4	HK1	10	71048514	Nonsense_Mutation	SNP	C	TCGA-BP-4771-01A-01D-1366-10	44663192	71048514	64486233	15	20238											
DNHD1	144132	hgsc.bcm.edu	37	11	6567890	6567890	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr11:6567890G>T	ENST00000527990.2	+	19	5721	c.5721G>T	c.(5719-5721)gaG>gaT	p.E1907D	DNHD1_ENST00000254579.6_Missense_Mutation_p.E1907D			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1907					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGCCATTGAGGAGGCTGCCC	0.562																																																0													48	42	44					11																	6567890		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.5721G>T	11.37:g.6567890G>T	ENSP00000436180:p.Glu1907Asp		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071996	0.55646	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.31769	1.48;1.48	4.96	0.93	0.19454	.	0.182642	0.46442	N	0.000297	T	0.26159	0.0638	M	0.61703	1.905	0.33891	D	0.637296	B	0.25390	0.125	B	0.22753	0.041	T	0.16453	-1.0402	10	0.59425	D	0.04	.	5.8679	0.18786	0.2264:0.0:0.639:0.1346	.	1907	Q96M86	DNHD1_HUMAN	D	1907;1907;198	ENSP00000254579:E1907D;ENSP00000436180:E1907D	ENSP00000254579:E1907D	E	+	3	2	DNHD1	6524466	1.000000	0.71417	0.904000	0.35570	0.836000	0.47400	0.557000	0.23454	0.017000	0.15025	-0.137000	0.14449	GAG		0.562	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		T	6567890	G	T	6567890	3	4	357	1	0	0	0	0	1	0	0	0	4670	991	35	4	5804	4	DNHD1	11	6567890	Missense_Mutation	SNP	G	TCGA-BP-4771-01A-01D-1366-10		6567890	128438626	16	20239											
GDF3	9573	hgsc.bcm.edu	37	12	7843115	7843115	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr12:7843115C>A	ENST00000329913.3	-	2	501	c.454G>T	c.(454-456)Gag>Tag	p.E152*		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	152					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACATGAGGCTCCTGAACCAGG	0.552																																																0													56	59	58					12																	7843115		2203	4300	6503	SO:0001587	stop_gained	9573			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.454G>T	12.37:g.7843115C>A	ENSP00000331745:p.Glu152*		Q8NEJ4	Nonsense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938267	0.34189	.	.	ENSG00000184344	ENST00000329913	.	.	.	4.41	2.49	0.30216	.	1.377680	0.04077	N	0.308924	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	4.5858	0.12282	0.0:0.6043:0.179:0.2167	.	.	.	.	X	152	.	ENSP00000331745:E152X	E	-	1	0	GDF3	7734382	0.001000	0.12720	0.050000	0.19076	0.208000	0.24298	0.953000	0.29162	0.382000	0.24878	-0.258000	0.10820	GAG		0.552	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			A	7843115	C	A	7843115	4	1	357	1	0	0	0	0	0	1	0	0	6317	864	30	4	644	4	GDF3	12	7843115	Nonsense_Mutation	SNP	C	TCGA-BP-4771-01A-01D-1366-10		7843115	126008780	17	20240											
FAM90A1	55138	hgsc.bcm.edu	37	12	8374782	8374783	+	In_Frame_Ins	INS	-	-	CGG			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr12:8374782_8374783insCGG	ENST00000538603.1	-	7	1588_1589	c.1030_1031insCCG	c.(1030-1032)acg>aCCGcg	p.344_345insA	FAM90A1_ENST00000307435.6_In_Frame_Ins_p.344_345insA	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	344				T -> TV (in Ref. 1; BAA91593). {ECO:0000305}.			nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CTGGGGTGACGTACGTGGTCCA	0.678																																																0																																										SO:0001652	inframe_insertion	55138			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.1030_1031insCCG	12.37:g.8374782_8374783insCGG	ENSP00000445418:p.Thr344_Ser345insAla		D3DUU9|Q9NVZ6	In_Frame_Ins	INS	ENST00000538603.1	37	CCDS31738.1																																																																																				0.678	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		CGG	8374783	-	CGG	8374782	7	5	357	1	0	1	1	0	0	0	0	0	5652	1145	40	0	367	0	FAM90A1	12	8374782	In_Frame_Ins	INS	-	TCGA-BP-4771-01A-01D-1366-10	531667	8374782	125477113	18	20241											
ATF1	466	hgsc.bcm.edu;ucsc.edu	37	12	51213502	51213502	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr12:51213502T>G	ENST00000262053.3	+	7	778	c.756T>G	c.(754-756)aaT>aaG	p.N252K	ATF1_ENST00000539132.1_Missense_Mutation_p.N117K	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	252	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	AAAATCAAAATAAAACTCTAA	0.318			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "																																		Dom	yes		12	12q13	466	activating transcription factor 1		"E, M"	0													35	39	38					12																	51213502		2203	4294	6497	SO:0001583	missense	466			BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"basic leucine zipper proteins"	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.756T>G	12.37:g.51213502T>G	ENSP00000262053:p.Asn252Lys		B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	37	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600863	0.66332	.	.	ENSG00000123268	ENST00000262053;ENST00000539132	T;T	0.71103	-0.54;-0.54	5.48	0.497	0.16902	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.87541	0.6203	H	0.97874	4.095	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86372	0.1724	10	0.87932	D	0	-0.7867	8.6861	0.34238	0.0:0.5377:0.0:0.4623	.	252	P18846	ATF1_HUMAN	K	252;117	ENSP00000262053:N252K;ENSP00000438403:N117K	ENSP00000262053:N252K	N	+	3	2	ATF1	49499769	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.458000	0.45014	0.119000	0.18210	0.523000	0.50628	AAT		0.318	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		G	51213502	T	G	51213502	3	3	357	1	0	0	0	0	1	0	0	0	1079	1403	49	5	778	5	ATF1	12	51213502	Missense_Mutation	SNP	T	TCGA-BP-4771-01A-01D-1366-10	42838720	51213502	82638393	19	20242											
HVCN1	84329	hgsc.bcm.edu	37	12	111099084	111099084	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr12:111099084C>T	ENST00000356742.5	-	3	944	c.191G>A	c.(190-192)gGc>gAc	p.G64D	HVCN1_ENST00000242607.8_Missense_Mutation_p.G64D|HVCN1_ENST00000548312.1_Missense_Mutation_p.G64D|HVCN1_ENST00000439744.2_Missense_Mutation_p.G44D			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	64					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GCCTTCCTCGCCTGAGACTGG	0.612																																																0													62	66	64					12																	111099084		2203	4300	6503	SO:0001583	missense	84329			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.191G>A	12.37:g.111099084C>T	ENSP00000349181:p.Gly64Asp		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	10.17	1.277455	0.23307	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744;ENST00000546713	T;T;T;T	0.44881	0.92;0.91;0.91;0.94	5.01	2.03	0.26663	.	0.746229	0.12303	N	0.480979	T	0.43478	0.1249	M	0.65975	2.015	0.09310	N	1	B;P	0.38827	0.376;0.649	B;B	0.44044	0.122;0.439	T	0.37686	-0.9695	10	0.56958	D	0.05	-13.3976	4.661	0.12643	0.0:0.441:0.344:0.2149	.	64;64	Q96D96;Q96D96-3	HVCN1_HUMAN;.	D	64;64;64;44;64	ENSP00000449601:G64D;ENSP00000242607:G64D;ENSP00000349181:G64D;ENSP00000412052:G44D	ENSP00000242607:G64D	G	-	2	0	HVCN1	109583467	0.000000	0.05858	0.015000	0.15790	0.069000	0.16628	0.017000	0.13399	0.696000	0.31696	0.457000	0.33378	GGC		0.612	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		T	111099084	C	T	111099084	3	4	357	1	0	0	0	0	1	0	0	0	7464	739	26	2	650	2	HVCN1	12	111099084	Missense_Mutation	SNP	C	TCGA-BP-4771-01A-01D-1366-10	59885582	111099084	22752811	20	20243											
SGK269	79834	hgsc.bcm.edu;ucsc.edu	37	15	77407253	77407253	+	Silent	SNP	G	G	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr15:77407253G>A	ENST00000560626.2	-	7	4961	c.4486C>T	c.(4486-4488)Ctg>Ttg	p.L1496L	PEAK1_ENST00000312493.4_Silent_p.L1496L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGTAAGAGCAGCAGACACACC	0.527																																																0													62	65	64					15																	77407253		2075	4199	6274	SO:0001819	synonymous_variant	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4486C>T	15.37:g.77407253G>A			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	CCDS42062.1																																																																																				0.527	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			A	77407253	G	A	77407253	2	1	357	1	0	0	0	0	0	0	0	1	14217	962	34	2		2	SGK269	15	77407253	Silent	SNP	G	TCGA-BP-4771-01A-01D-1366-10		77407253	25124139	21	20244											
USP43	124739	hgsc.bcm.edu	37	17	9604523	9604523	+	Silent	SNP	C	C	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr17:9604523C>A	ENST00000285199.7	+	11	1719	c.1623C>A	c.(1621-1623)acC>acA	p.T541T	USP43_ENST00000570475.1_Silent_p.T541T|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	541	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.T542T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						ACAGCTGTACCTTGGATGAAT	0.647																																																1	Substitution - coding silent(1)	breast(1)											23	29	27					17																	9604523		2159	4265	6424	SO:0001819	synonymous_variant	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1623C>A	17.37:g.9604523C>A			A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	CCDS45610.1																																																																																				0.647	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		A	9604523	C	A	9604523	2	1	357	1	0	0	0	0	0	0	0	1	17079	668	24	4		4	USP43	17	9604523	Silent	SNP	C	TCGA-BP-4771-01A-01D-1366-10		9604523	71590687	22	20245											
KRT10	3858	hgsc.bcm.edu;ucsc.edu	37	17	38977371	38977371	+	Splice_Site	SNP	T	T	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr17:38977371T>A	ENST00000269576.5	-	2	637		c.e2-2		TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10						cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GTTGAGAATCTGGAGGGAGAG	0.433																																																0													95	72	80					17																	38977371		2203	4300	6503	SO:0001630	splice_region_variant	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.628-2A>T	17.37:g.38977371T>A			Q14664|Q8N175	Splice_Site	SNP	ENST00000269576.5	37	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.824996	0.90955	.	.	ENSG00000186395	ENST00000269576	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9715	0.80025	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT10	36230897	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.975000	0.76128	2.158000	0.67659	0.533000	0.62120	.		0.433	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421	Intron	A	38977371	T	A	38977371	5	1	357	1	0	0	0	0	0	0	1	0	8450	1594	55	5	1156	5	KRT10	17	38977371	Splice_Site	SNP	T	TCGA-BP-4771-01A-01D-1366-10	29372848	38977371	42217839	23	20246											
EVPL	2125	hgsc.bcm.edu	37	17	74023229	74023229	+	Silent	SNP	G	G	A			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr17:74023229G>A	ENST00000301607.3	-	1	304	c.51C>T	c.(49-51)ggC>ggT	p.G17G	EVPL_ENST00000586740.1_Silent_p.G17G	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	17	4 X 4 AA tandem repeats of K-G-S-P.|Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						tggcgggggagcccttggggg	0.677																																																0													10	11	11					17																	74023229		2189	4286	6475	SO:0001819	synonymous_variant	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.51C>T	17.37:g.74023229G>A			A0AUV5	Silent	SNP	ENST00000301607.3	37	CCDS11737.1																																																																																				0.677	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		A	74023229	G	A	74023229	2	1	357	1	0	0	0	0	0	0	0	1	5294	958	34	2		2	EVPL	17	74023229	Silent	SNP	G	TCGA-BP-4771-01A-01D-1366-10	35045858	74023229	7171981	24	20247											
FAM59A	64762	hgsc.bcm.edu;ucsc.edu	37	18	29868022	29868022	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr18:29868022T>G	ENST00000269209.6	-	4	541	c.538A>C	c.(538-540)Aag>Cag	p.K180Q	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000399218.4_Missense_Mutation_p.K180Q|GAREM_ENST00000578619.1_5'UTR			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	180	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TTCCCAATCTTTTTGAAGATT	0.448																																																0													103	86	92					18																	29868022		2203	4300	6503	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.538A>C	18.37:g.29868022T>G	ENSP00000269209:p.Lys180Gln		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646329	0.67358	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.16597	2.33;2.33	5.14	5.14	0.70334	.	0.181162	0.48286	D	0.000184	T	0.35451	0.0932	L	0.54323	1.7	0.47214	D	0.999357	D;D	0.55800	0.968;0.973	P;D	0.63283	0.81;0.913	T	0.05550	-1.0878	10	0.72032	D	0.01	-23.8095	15.3978	0.74812	0.0:0.0:0.0:1.0	.	180;180	Q9H706;Q9H706-3	FA59A_HUMAN;.	Q	180	ENSP00000382165:K180Q;ENSP00000269209:K180Q	ENSP00000269209:K180Q	K	-	1	0	FAM59A	28122020	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.525000	0.67110	2.283000	0.76528	0.533000	0.62120	AAG		0.448	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		G	29868022	T	G	29868022	3	3	357	1	0	0	0	0	1	0	0	0	5594	1850	64	5	2101	5	FAM59A	18	29868022	Missense_Mutation	SNP	T	TCGA-BP-4771-01A-01D-1366-10		29868022	48209226	25	20248											
VSTM1	284415	hgsc.bcm.edu	37	19	54561641	54561641	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr19:54561641C>G	ENST00000338372.2	-	3	449	c.274G>C	c.(274-276)Ggg>Cgg	p.G92R	VSTM1_ENST00000376626.1_Missense_Mutation_p.G92R|VSTM1_ENST00000425006.2_Missense_Mutation_p.G92R|VSTM1_ENST00000366170.2_Intron	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	92	Ig-like V-type.				immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AAGTACCTCCCAGCATCCTTA	0.532																																																0													123	104	110					19																	54561641		2203	4300	6503	SO:0001583	missense	284415			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.274G>C	19.37:g.54561641C>G	ENSP00000343366:p.Gly92Arg		B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139784	0.37728	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000425006	T;T;T;T	0.01599	4.74;4.74;4.74;4.74	3.63	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.484707	0.15375	N	0.265647	T	0.12008	0.0292	M	0.92649	3.33	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.03608	-1.1020	10	0.48119	T	0.1	-7.6861	8.9571	0.35825	0.0:0.7713:0.2287:0.0	.	92;92	D2DJS4;Q6UX27	.;VSTM1_HUMAN	R	13;92;92;92	ENSP00000409412:G13R;ENSP00000343366:G92R;ENSP00000365813:G92R;ENSP00000413006:G92R	ENSP00000343366:G92R	G	-	1	0	VSTM1	59253453	0.339000	0.24784	0.003000	0.11579	0.000000	0.00434	3.189000	0.50965	0.850000	0.35239	-0.282000	0.10007	GGG		0.532	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		G	54561641	C	G	54561641	3	3	357	1	0	0	0	0	1	0	0	0	17233	594	21	4	464	4	VSTM1	19	54561641	Missense_Mutation	SNP	C	TCGA-BP-4771-01A-01D-1366-10		54561641	4567342	26	20249											
PTK6	5753	hgsc.bcm.edu;ucsc.edu	37	20	62164915	62164915	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chr20:62164915A>T	ENST00000217185.2	-	4	686	c.659T>A	c.(658-660)gTg>gAg	p.V220E	PTK6_ENST00000542869.1_Missense_Mutation_p.V119E	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	TCGAGAAATCACCTTAATGGC	0.662																																																0													69	73	72					20																	62164915		2203	4300	6503	SO:0001583	missense	5753			U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.659T>A	20.37:g.62164915A>T	ENSP00000217185:p.Val220Glu		B2RCR3|B4DW46|Q58F01	Missense_Mutation	SNP	ENST00000217185.2	37	CCDS13524.1	.	.	.	.	.	.	.	.	.	.	a	13.02	2.112536	0.37242	.	.	ENSG00000101213	ENST00000217185;ENST00000542869	D;D	0.89810	-2.57;-2.57	4.32	4.32	0.51571	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37857	U	0.001908	D	0.85349	0.5676	L	0.47016	1.485	0.31131	N	0.7077	P	0.35714	0.517	B	0.37451	0.25	D	0.86553	0.1836	10	0.87932	D	0	.	11.0227	0.47728	1.0:0.0:0.0:0.0	.	220	Q13882	PTK6_HUMAN	E	220;119	ENSP00000217185:V220E;ENSP00000442460:V119E	ENSP00000217185:V220E	V	-	2	0	PTK6	61635359	0.361000	0.24972	0.941000	0.38009	0.179000	0.23085	1.177000	0.31969	1.599000	0.50093	0.398000	0.26397	GTG		0.662	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			T	62164915	A	T	62164915	3	4	357	1	0	0	0	0	1	0	0	0	12770	159	6	5	716	5	PTK6	20	62164915	Missense_Mutation	SNP	A	TCGA-BP-4771-01A-01D-1366-10		62164915	860605	27	20250											
SRPX2	27286	hgsc.bcm.edu;ucsc.edu	37	X	99922295	99922295	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4771-01A-01D-1366-10	TCGA-BP-4771-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	e1c00898-84ed-4fcb-b167-be6464a960e3	319a361d-cb17-4a06-89dc-421b28936aa7	g.chrX:99922295A>G	ENST00000373004.3	+	9	1414	c.986A>G	c.(985-987)aAc>aGc	p.N329S		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	329					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GTCAACGTCAACTCAGCTGCT	0.463																																																0													179	142	154					X																	99922295		2203	4300	6503	SO:0001583	missense	27286			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.986A>G	X.37:g.99922295A>G	ENSP00000362095:p.Asn329Ser		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281309	0.40394	.	.	ENSG00000102359	ENST00000373004	T	0.28666	1.6	5.49	5.49	0.81192	.	0.181237	0.64402	D	0.000014	T	0.29620	0.0739	L	0.59436	1.845	0.40485	D	0.980483	P	0.39480	0.675	B	0.33960	0.173	T	0.10613	-1.0622	9	.	.	.	-21.2699	14.8149	0.70028	1.0:0.0:0.0:0.0	.	329	O60687	SRPX2_HUMAN	S	329	ENSP00000362095:N329S	.	N	+	2	0	SRPX2	99808951	0.997000	0.39634	1.000000	0.80357	0.717000	0.41224	1.527000	0.35975	1.948000	0.56530	0.486000	0.48141	AAC		0.463	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		G	99922295	A	G	99922295	3	3	357	1	0	0	0	0	1	0	0	0	15170	43	2	3	1016	3	SRPX2	23	99922295	Missense_Mutation	SNP	A	TCGA-BP-4771-01A-01D-1366-10		99922295	55348265	28	20251											
SPATA21	374955	hgsc.bcm.edu	37	1	16725989	16725989	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr1:16725989T>C	ENST00000335496.1	-	12	1684	c.1202A>G	c.(1201-1203)cAg>cGg	p.Q401R	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.Q378R	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	401							calcium ion binding (GO:0005509)	p.Q401R(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCAGGGCACCTGGGCATAGGG	0.597																																																1	Substitution - Missense(1)	ovary(1)											58	49	52					1																	16725989		2203	4300	6503	SO:0001583	missense	374955				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1202A>G	1.37:g.16725989T>C	ENSP00000335612:p.Gln401Arg		B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	CCDS172.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980489	0.74474	.	.	ENSG00000187144	ENST00000491418;ENST00000335496;ENST00000540400	T;T;T	0.68181	0.75;-0.31;-0.31	5.11	5.11	0.69529	.	0.119203	0.38436	N	0.001699	T	0.76271	0.3964	L	0.55481	1.735	0.35657	D	0.812235	D;D	0.89917	0.998;1.0	D;D	0.78314	0.978;0.991	T	0.82090	-0.0629	10	0.56958	D	0.05	-13.1176	11.4757	0.50297	0.0:0.0:0.0:1.0	.	378;401	F5GXP5;Q7Z572	.;SPT21_HUMAN	R	109;401;378	ENSP00000420753:Q109R;ENSP00000335612:Q401R;ENSP00000440046:Q378R	ENSP00000335612:Q401R	Q	-	2	0	SPATA21	16598576	0.998000	0.40836	1.000000	0.80357	0.855000	0.48748	3.428000	0.52792	2.279000	0.76181	0.459000	0.35465	CAG		0.597	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		C	16725989	T	C	16725989	3	2	358	1	0	0	0	0	1	0	0	0	15012	1580	55	3	215	3	SPATA21	1	16725989	Missense_Mutation	SNP	T	TCGA-BP-4774-01A-01D-1366-10		16725989	232524632	1	20252											
C1orf63	57035	hgsc.bcm.edu	37	1	25569164	25569164	+	Silent	SNP	A	A	C			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr1:25569164A>C	ENST00000243189.7	-	5	1065	c.789T>G	c.(787-789)gcT>gcG	p.A263A	C1orf63_ENST00000417642.2_Silent_p.A264A	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		263										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCAGCTTTAGCTGATTTTT	0.343																																																0													133	123	127					1																	25569164		2202	4297	6499	SO:0001819	synonymous_variant	57035																														ENST00000243189.7:c.789T>G	1.37:g.25569164A>C			A8K917|Q49AA4|Q5TH71|Q9GZP6	Silent	SNP	ENST00000243189.7	37	CCDS260.1																																																																																				0.343	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			C	25569164	A	C	25569164	2	2	358	1	0	0	0	0	0	0	0	1	2055	407	15	5		5	C1orf63	1	25569164	Silent	SNP	A	TCGA-BP-4774-01A-01D-1366-10	8843175	25569164	223681457	2	20253											
ODF2L	57489	hgsc.bcm.edu	37	1	86851139	86851139	+	Splice_Site	SNP	A	A	C			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr1:86851139A>C	ENST00000359242.3	-	3	528		c.e3+1		ODF2L_ENST00000294678.2_Splice_Site|ODF2L_ENST00000370566.3_Splice_Site|ODF2L_ENST00000370567.1_Splice_Site|ODF2L_ENST00000394731.1_Intron|ODF2L_ENST00000317336.7_Splice_Site	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like							centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TAAGTCACTCACATTTTCAAA	0.318																																																0													48	47	47					1																	86851139		2202	4295	6497	SO:0001630	splice_region_variant	57489				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.246+1T>G	1.37:g.86851139A>C			A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Splice_Site	SNP	ENST00000359242.3	37	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461494	0.63513	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000317336;ENST00000370567;ENST00000294678;ENST00000465959	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4069	0.55445	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ODF2L	86623727	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.557000	0.60782	2.239000	0.73571	0.529000	0.55759	.		0.318	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		Intron	C	86851139	A	C	86851139	5	2	358	1	0	0	0	0	0	0	1	0	10830	173	6	5	1902	5	ODF2L	1	86851139	Splice_Site	SNP	A	TCGA-BP-4774-01A-01D-1366-10	61281975	86851139	162399482	3	20254											
HFM1	164045	hgsc.bcm.edu	37	1	91726880	91726880	+	Silent	SNP	C	C	T			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr1:91726880C>T	ENST00000370425.3	-	39	4373	c.4275G>A	c.(4273-4275)aaG>aaA	p.K1425K	HFM1_ENST00000462405.1_5'UTR|Y_RNA_ENST00000384090.1_RNA|HFM1_ENST00000370424.3_Silent_p.K1104K|HFM1_ENST00000294696.5_3'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1425					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCAATAAAGACTTCATTTCAT	0.254																																																0													24	21	22					1																	91726880		1758	4015	5773	SO:0001819	synonymous_variant	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.4275G>A	1.37:g.91726880C>T			B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	CCDS30769.2																																																																																				0.254	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		T	91726880	C	T	91726880	2	4	358	1	0	0	0	0	0	0	0	1	7085	564	20	2		2	HFM1	1	91726880	Silent	SNP	C	TCGA-BP-4774-01A-01D-1366-10	4875741	91726880	157523741	4	20255											
RCOR3	55758	hgsc.bcm.edu	37	1	211447566	211447566	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr1:211447566G>A	ENST00000367005.4	+	3	283	c.142G>A	c.(142-144)Gca>Aca	p.A48T	RCOR3_ENST00000419091.2_Missense_Mutation_p.A106T|RCOR3_ENST00000367006.4_Missense_Mutation_p.A106T|RCOR3_ENST00000452621.2_Missense_Mutation_p.A106T	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	48	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TGAATACATTGCAATTGCAAA	0.308																																																0													73	65	68					1																	211447566		2203	4300	6503	SO:0001583	missense	55758			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.142G>A	1.37:g.211447566G>A	ENSP00000355972:p.Ala48Thr		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792946	0.50102	.	.	ENSG00000117625	ENST00000534478;ENST00000533469;ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.58	5.58	0.84498	ELM2 domain (2);	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	N	0.20845	0.615	0.80722	D	1	D;B;B;B	0.71674	0.998;0.016;0.094;0.082	D;B;B;B	0.81914	0.995;0.042;0.07;0.036	T	0.42327	-0.9458	10	0.13853	T	0.58	-15.3456	19.9211	0.97085	0.0:0.0:1.0:0.0	.	106;48;106;106	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	T	48;48;106;106;106;48	ENSP00000436057:A48T;ENSP00000436838:A48T;ENSP00000355973:A106T;ENSP00000398558:A106T;ENSP00000413929:A106T;ENSP00000355972:A48T	ENSP00000355972:A48T	A	+	1	0	RCOR3	209514189	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.797000	0.85911	2.782000	0.95742	0.585000	0.79938	GCA		0.308	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		A	211447566	G	A	211447566	3	1	358	1	0	0	0	0	1	0	0	0	13190	1319	46	2	330	2	RCOR3	1	211447566	Missense_Mutation	SNP	G	TCGA-BP-4774-01A-01D-1366-10	119720686	211447566	37803055	5	20256											
CDCA7	83879	hgsc.bcm.edu;ucsc.edu	37	2	174223501	174223501	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr2:174223501T>C	ENST00000347703.3	+	2	227	c.83T>C	c.(82-84)aTg>aCg	p.M28T	AC092573.2_ENST00000437243.1_RNA|CDCA7_ENST00000392567.2_Missense_Mutation_p.M28T|CDCA7_ENST00000306721.3_Missense_Mutation_p.M28T|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000410101.3_Missense_Mutation_p.M28T	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	28					apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TTGATTTCCATGGAAACCTCG	0.383																																																0													95	97	97					2																	174223501		2203	4300	6503	SO:0001583	missense	83879			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.83T>C	2.37:g.174223501T>C	ENSP00000272789:p.Met28Thr		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.743605	0.49151	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101	T;T;T;T	0.55588	0.61;0.51;0.55;0.63	5.77	5.77	0.91146	.	0.036977	0.85682	D	0.000000	T	0.63248	0.2495	L	0.34521	1.04	0.43863	D	0.99646	P;P;D	0.63046	0.745;0.546;0.992	B;B;D	0.71656	0.231;0.154;0.974	T	0.66670	-0.5865	10	0.87932	D	0	-16.9802	16.099	0.81152	0.0:0.0:0.0:1.0	.	28;28;28	B4DV66;Q9BWT1;Q9BWT1-2	.;CDCA7_HUMAN;.	T	28	ENSP00000272789:M28T;ENSP00000376348:M28T;ENSP00000306968:M28T;ENSP00000386656:M28T	ENSP00000306968:M28T	M	+	2	0	CDCA7	173931747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.237000	0.78164	2.203000	0.70933	0.533000	0.62120	ATG		0.383	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		C	174223501	T	C	174223501	3	2	358	1	0	0	0	0	1	0	0	0	3092	1464	51	3	89	3	CDCA7	2	174223501	Missense_Mutation	SNP	T	TCGA-BP-4774-01A-01D-1366-10		174223501	68975872	6	20257											
ALS2	57679	hgsc.bcm.edu	37	2	202580492	202580492	+	Missense_Mutation	SNP	G	G	T	rs267599155		TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr2:202580492G>T	ENST00000264276.6	-	25	4279	c.3907C>A	c.(3907-3909)Caa>Aaa	p.Q1303K	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1303					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.Q1303*(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CAGCCCAGTTGGCGCCAACAT	0.517																																																2	Substitution - Nonsense(2)	skin(2)											171	167	168					2																	202580492		1918	4118	6036	SO:0001583	missense	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3907C>A	2.37:g.202580492G>T	ENSP00000264276:p.Gln1303Lys		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377524	0.42105	.	.	ENSG00000003393	ENST00000264276	T	0.57436	0.4	5.43	5.43	0.79202	.	0.110957	0.64402	N	0.000006	T	0.52549	0.1741	L	0.54323	1.7	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49476	-0.8936	10	0.54805	T	0.06	.	19.239	0.93875	0.0:0.0:1.0:0.0	.	1303	Q96Q42	ALS2_HUMAN	K	1303	ENSP00000264276:Q1303K	ENSP00000264276:Q1303K	Q	-	1	0	ALS2	202288737	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	5.181000	0.65054	2.533000	0.85409	0.491000	0.48974	CAA		0.517	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		T	202580492	G	T	202580492	3	4	358	1	0	0	0	0	1	0	0	0	550	1357	47	4	1106	4	ALS2	2	202580492	Missense_Mutation	SNP	G	TCGA-BP-4774-01A-01D-1366-10	28356991	202580492	40618881	7	20258											
ABCB6	10058	hgsc.bcm.edu;ucsc.edu	37	2	220075156	220075156	+	Silent	SNP	C	C	T			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr2:220075156C>T	ENST00000265316.3	-	17	2614	c.2298G>A	c.(2296-2298)caG>caA	p.Q766Q	ABCB6_ENST00000439002.2_Silent_p.Q720Q	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	766	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGAGAAGCCTGGATGGCCC	0.572																																																0													80	73	75					2																	220075156		2203	4300	6503	SO:0001819	synonymous_variant	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2298G>A	2.37:g.220075156C>T			O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	C	9.118	1.008315	0.19199	.	.	ENSG00000115657	ENST00000295750	.	.	.	5.66	3.88	0.44766	.	.	.	.	.	T	0.60843	0.2300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56637	-0.7946	4	.	.	.	-18.407	10.0498	0.42208	0.0:0.7829:0.0:0.2171	.	.	.	.	K	614	.	.	R	-	2	0	ABCB6	219783400	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.682000	0.25335	0.766000	0.33244	0.650000	0.86243	AGG		0.572	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		T	220075156	C	T	220075156	2	4	358	1	0	0	0	0	0	0	0	1	45	680	24	2		2	ABCB6	2	220075156	Silent	SNP	C	TCGA-BP-4774-01A-01D-1366-10	17494664	220075156	23124217	8	20259											
DOCK10	55619	hgsc.bcm.edu;ucsc.edu	37	2	225761077	225761077	+	Silent	SNP	A	A	G			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr2:225761077A>G	ENST00000258390.7	-	4	418	c.351T>C	c.(349-351)agT>agC	p.S117S	DOCK10_ENST00000409592.3_Silent_p.S111S|DOCK10_ENST00000474102.1_5'UTR	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	117					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCCACTGGGAACTATAAAATT	0.383																																																0													47	42	43					2																	225761077		1796	4064	5860	SO:0001819	synonymous_variant	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.351T>C	2.37:g.225761077A>G			B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	CCDS46528.1																																																																																				0.383	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			G	225761077	A	G	225761077	2	3	358	1	0	0	0	0	0	0	0	1	4687	40	2	3		3	DOCK10	2	225761077	Silent	SNP	A	TCGA-BP-4774-01A-01D-1366-10	5685921	225761077	17438296	9	20260											
DLEC1	9940	hgsc.bcm.edu;ucsc.edu	37	3	38138227	38138227	+	Splice_Site	SNP	A	A	G			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr3:38138227A>G	ENST00000308059.6	+	15	2360	c.2339A>G	c.(2338-2340)aAg>aGg	p.K780R	DLEC1_ENST00000452631.2_Splice_Site_p.K780R|DLEC1_ENST00000346219.3_Splice_Site_p.K780R					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAGGCTTTTAAGGTAGGTCAT	0.512																																																0													119	118	119					3																	38138227		2015	4203	6218	SO:0001630	splice_region_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2340+1A>G	3.37:g.38138227A>G				Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598856	0.28445	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05513	3.44;3.43;3.67	4.93	3.77	0.43336	.	0.374299	0.26116	N	0.026253	T	0.11281	0.0275	L	0.60455	1.87	0.43819	D	0.996389	P;P;P	0.48640	0.913;0.824;0.913	P;B;P	0.50570	0.591;0.284;0.644	T	0.17048	-1.0382	10	0.22109	T	0.4	-30.8341	9.829	0.40930	0.9161:0.0:0.0839:0.0	.	780;780;780	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	R	780	ENSP00000308597:K780R;ENSP00000315914:K780R;ENSP00000410427:K780R	ENSP00000308597:K780R	K	+	2	0	DLEC1	38113231	1.000000	0.71417	0.965000	0.40720	0.237000	0.25408	4.602000	0.61098	0.828000	0.34709	0.533000	0.62120	AAG		0.512	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	Missense_Mutation	G	38138227	A	G	38138227	5	3	358	1	0	0	0	0	0	0	1	0	4554	86	3	3	2397	3	DLEC1	3	38138227	Splice_Site	SNP	A	TCGA-BP-4774-01A-01D-1366-10		38138227	159884203	10	20261											
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47144909	47144909	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr3:47144909A>G	ENST00000409792.3	-	7	4886	c.4844T>C	c.(4843-4845)aTa>aCa	p.I1615T		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1615	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTGGCATCTATTATCTGGGA	0.323			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													132	126	128					3																	47144909		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4844T>C	3.37:g.47144909A>G	ENSP00000386759:p.Ile1615Thr		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.510635	0.85389	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.84298	-1.83	5.83	5.83	0.93111	SET domain (3);	0.000000	0.64402	D	0.000010	D	0.95364	0.8495	H	0.98218	4.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.96940	0.9687	10	0.87932	D	0	.	14.7708	0.69675	1.0:0.0:0.0:0.0	.	1615;1615	F2Z317;Q9BYW2	.;SETD2_HUMAN	T	1615	ENSP00000386759:I1615T	ENSP00000386759:I1615T	I	-	2	0	SETD2	47119913	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.890000	0.92477	2.240000	0.73641	0.528000	0.53228	ATA		0.323	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47144909	A	G	47144909	3	3	358	1	0	0	0	0	1	0	0	0	14137	449	16	3	2910	3	SETD2	3	47144909	Missense_Mutation	SNP	A	TCGA-BP-4774-01A-01D-1366-10	9006682	47144909	150877521	11	20262											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52651292	52651292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr3:52651292C>A	ENST00000296302.7	-	14	1805	c.1804G>T	c.(1804-1806)Gag>Tag	p.E602*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E602*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E602*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E602*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E617*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E602*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E570*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E617*			Q86U86	PB1_HUMAN	polybromo 1	602	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAGCCCTCCTCATTATAGTGC	0.463			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													79	72	74					3																	52651292		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1804G>T	3.37:g.52651292C>A	ENSP00000296302:p.Glu602*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	39	7.692570	0.98438	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.2166	19.919	0.97077	0.0:1.0:0.0:0.0	.	.	.	.	X	570;602;602;602;602;602;617;617;602;561	.	ENSP00000296302:E602X	E	-	1	0	PBRM1	52626332	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.818000	0.86416	2.707000	0.92482	0.655000	0.94253	GAG		0.463	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52651292	C	A	52651292	4	1	358	1	0	0	0	0	0	1	0	0	11493	835	29	4	3164	4	PBRM1	3	52651292	Nonsense_Mutation	SNP	C	TCGA-BP-4774-01A-01D-1366-10	5506383	52651292	145371138	12	20263											
PROK2	60675	hgsc.bcm.edu	37	3	71830711	71830711	+	Silent	SNP	G	G	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr3:71830711G>A	ENST00000295619.3	-	2	137	c.129C>T	c.(127-129)ggC>ggT	p.G43G	PROK2_ENST00000353065.3_Silent_p.G43G	NM_001126128.1	NP_001119600.1	Q9HC23	PROK2_HUMAN	prokineticin 2	43					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of smooth muscle contraction (GO:0045987)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	G-protein coupled receptor binding (GO:0001664)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		CACAGCACATGCCTCCACCAC	0.433																																																0													99	88	92					3																	71830711		2203	4300	6503	SO:0001819	synonymous_variant	60675			AF333025	CCDS2916.1, CCDS46868.1	3p21.1	2013-02-28			ENSG00000163421	ENSG00000163421		"Endogenous ligands"	18455	protein-coding gene	gene with protein product	"protein Bv8 homolog"	607002				11054548, 11259612	Standard	NM_021935		Approved	PK2, BV8, MIT1, KAL4	uc003dpa.4	Q9HC23	OTTHUMG00000158809	ENST00000295619.3:c.129C>T	3.37:g.71830711G>A			Q53Z79|Q6ISR0	Silent	SNP	ENST00000295619.3	37	CCDS46868.1																																																																																				0.433	PROK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352302.1	NM_001126128		A	71830711	G	A	71830711	2	1	358	1	0	0	0	0	0	0	0	1	12556	1306	46	2		2	PROK2	3	71830711	Silent	SNP	G	TCGA-BP-4774-01A-01D-1366-10	19179419	71830711	126191719	13	20264											
CRMP1	1400	hgsc.bcm.edu	37	4	5827342	5827342	+	Silent	SNP	A	A	T			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr4:5827342A>T	ENST00000397890.2	-	13	1720	c.1506T>A	c.(1504-1506)ccT>ccA	p.P502P	CRMP1_ENST00000324989.7_Silent_p.P616P|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000512574.1_Silent_p.P500P|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	502					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTCGTACACAGGACCGTCAT	0.522																																																0													200	181	188					4																	5827342		2203	4300	6503	SO:0001819	synonymous_variant	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1506T>A	4.37:g.5827342A>T			A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000397890.2	37	CCDS43207.1																																																																																				0.522	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		T	5827342	A	T	5827342	2	4	358	1	0	0	0	0	0	0	0	1	3892	175	7	5		5	CRMP1	4	5827342	Silent	SNP	A	TCGA-BP-4774-01A-01D-1366-10		5827342	185326934	14	20265											
TBC1D1	23216	hgsc.bcm.edu	37	4	38016542	38016542	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr4:38016542A>G	ENST00000261439.4	+	3	1185	c.830A>G	c.(829-831)cAc>cGc	p.H277R	TBC1D1_ENST00000508802.1_Missense_Mutation_p.H277R	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	277	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ATTAGCGGACACAATATTGTG	0.532																																																0													47	50	49					4																	38016542		2203	4300	6503	SO:0001583	missense	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.830A>G	4.37:g.38016542A>G	ENSP00000261439:p.His277Arg		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	A	1.621	-0.521517	0.04171	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.18174	3.6;3.99;2.23	5.65	3.11	0.35812	Phosphotyrosine interaction domain (1);	0.101745	0.43416	N	0.000575	T	0.07143	0.0181	N	0.08118	0	0.80722	D	1	B;B;B	0.26809	0.001;0.16;0.001	B;B;B	0.23150	0.005;0.044;0.005	T	0.30736	-0.9968	10	0.12103	T	0.63	-22.4534	8.897	0.35470	0.8062:0.1274:0.0664:0.0	.	277;277;277	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	R	277;277;148	ENSP00000423651:H277R;ENSP00000261439:H277R;ENSP00000396877:H148R	ENSP00000261439:H277R	H	+	2	0	TBC1D1	37692937	0.214000	0.23563	0.151000	0.22473	0.019000	0.09904	0.921000	0.28718	0.461000	0.27071	-0.461000	0.05368	CAC		0.532	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		G	38016542	A	G	38016542	3	3	358	1	0	0	0	0	1	0	0	0	15602	159	6	3	836	3	TBC1D1	4	38016542	Missense_Mutation	SNP	A	TCGA-BP-4774-01A-01D-1366-10	32189200	38016542	153137734	15	20266											
KIAA1211	57482	hgsc.bcm.edu	37	4	57182389	57182389	+	Silent	SNP	C	C	T			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr4:57182389C>T	ENST00000504228.1	+	6	2826	c.2721C>T	c.(2719-2721)ccC>ccT	p.P907P	KIAA1211_ENST00000541073.1_Silent_p.P900P|KIAA1211_ENST00000264229.6_Silent_p.P907P			Q6ZU35	K1211_HUMAN	KIAA1211	907										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CATCCCTCCCCCAAGAGCGGA	0.682																																																0													36	48	44					4																	57182389		2121	4248	6369	SO:0001819	synonymous_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2721C>T	4.37:g.57182389C>T			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	CCDS43230.1																																																																																				0.682	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		T	57182389	C	T	57182389	2	4	358	1	0	0	0	0	0	0	0	1	8217	610	22	2		2	KIAA1211	4	57182389	Silent	SNP	C	TCGA-BP-4774-01A-01D-1366-10	19165847	57182389	133971887	16	20267											
FGB	2244	hgsc.bcm.edu	37	4	155487151	155487151	+	Splice_Site	SNP	G	G	T			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr4:155487151G>T	ENST00000302068.4	+	2	369	c.306G>T	c.(304-306)ctG>ctT	p.L102L	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	102			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ACCCAGACCTGGTGGGTGCAC	0.522																																					NSCLC(106;1133 1613 21870 46110 52656)											0													32	29	30					4																	155487151		2202	4299	6501	SO:0001630	splice_region_variant	2244				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.306+1G>T	4.37:g.155487151G>T			A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Silent	SNP	ENST00000302068.4	37	CCDS3786.1																																																																																				0.522	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	Silent	T	155487151	G	T	155487151	5	4	358	1	0	0	0	0	0	0	1	0	5833	1362	47	4	312	4	FGB	4	155487151	Splice_Site	SNP	G	TCGA-BP-4774-01A-01D-1366-10	98304762	155487151	35667125	17	20268											
TRIML2	205860	hgsc.bcm.edu	37	4	189026066	189026066	+	Silent	SNP	C	C	T			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr4:189026066C>T	ENST00000512729.1	-	2	434	c.60G>A	c.(58-60)ttG>ttA	p.L20L	TRIML2_ENST00000326754.3_Silent_p.L20L|TRIML2_ENST00000502707.1_5'Flank|TRIML2_ENST00000536972.1_Silent_p.L70L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	20					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCGATGTGTTCAATATTTCCT	0.393																																																0													172	163	166					4																	189026066		2203	4300	6503	SO:0001819	synonymous_variant	205860			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.60G>A	4.37:g.189026066C>T			B7Z6J6	Silent	SNP	ENST00000512729.1	37	CCDS3850.1																																																																																				0.393	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		T	189026066	C	T	189026066	2	4	358	1	0	0	0	0	0	0	0	1	16556	825	29	2		2	TRIML2	4	189026066	Silent	SNP	C	TCGA-BP-4774-01A-01D-1366-10	33538915	189026066	2128210	18	20269											
FEM1C	56929	hgsc.bcm.edu	37	5	114860558	114860558	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr5:114860558T>C	ENST00000274457.3	-	3	1862	c.1301A>G	c.(1300-1302)gAc>gGc	p.D434G		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	434			D -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CTGTAATGGGTCAGCTGGACA	0.383																																																0													82	84	84					5																	114860558		2199	4299	6498	SO:0001583	missense	56929				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1301A>G	5.37:g.114860558T>C	ENSP00000274457:p.Asp434Gly		B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580294	0.46006	.	.	ENSG00000145780	ENST00000274457	T	0.57436	0.4	5.55	5.55	0.83447	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	M	0.77820	2.39	0.53688	D	0.999972	D	0.52996	0.957	P	0.49140	0.601	T	0.64778	-0.6327	10	0.34782	T	0.22	-26.7803	15.6943	0.77481	0.0:0.0:0.0:1.0	.	434	Q96JP0	FEM1C_HUMAN	G	434	ENSP00000274457:D434G	ENSP00000274457:D434G	D	-	2	0	FEM1C	114888457	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.245000	0.72398	2.103000	0.63969	0.533000	0.62120	GAC		0.383	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		C	114860558	T	C	114860558	3	2	358	1	0	0	0	0	1	0	0	0	5813	1667	58	3	556	3	FEM1C	5	114860558	Missense_Mutation	SNP	T	TCGA-BP-4774-01A-01D-1366-10		114860558	66054702	19	20270											
FNIP1	96459	hgsc.bcm.edu;ucsc.edu	37	5	131039810	131039810	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr5:131039810T>C	ENST00000510461.1	-	10	1159	c.1064A>G	c.(1063-1065)cAt>cGt	p.H355R	FNIP1_ENST00000511848.1_Missense_Mutation_p.H355R|FNIP1_ENST00000307968.7_Missense_Mutation_p.H327R|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.H310R	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	355					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GAGAGGAAAATGTGAAAAAAA	0.289																																																0													43	47	46					5																	131039810		2201	4295	6496	SO:0001583	missense	96459			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1064A>G	5.37:g.131039810T>C	ENSP00000421985:p.His355Arg		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472756	0.84640	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.75	5.75	0.90469	.	.	.	.	.	T	0.81564	0.4849	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	0.996;0.99;0.996;1.0	D	0.84761	0.0762	9	0.87932	D	0	-8.4788	16.0664	0.80878	0.0:0.0:0.0:1.0	.	355;355;327;355	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	R	327;310;115;355;355	ENSP00000309266:H327R;ENSP00000310453:H310R;ENSP00000421985:H355R;ENSP00000425619:H355R	ENSP00000310453:H310R	H	-	2	0	FNIP1	131067709	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	2.201000	0.70794	0.533000	0.62120	CAT		0.289	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		C	131039810	T	C	131039810	3	2	358	1	0	0	0	0	1	0	0	0	5977	1464	51	3	2472	3	FNIP1	5	131039810	Missense_Mutation	SNP	T	TCGA-BP-4774-01A-01D-1366-10	16179252	131039810	49875450	20	20271											
CRISP3	10321	hgsc.bcm.edu;ucsc.edu	37	6	49696473	49696473	+	Silent	SNP	G	G	T	rs488132	byFrequency	TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr6:49696473G>T	ENST00000393666.1	-	7	714	c.708C>A	c.(706-708)gcC>gcA	p.A236A	CRISP3_ENST00000263045.4_Silent_p.A249A|CRISP3_ENST00000433368.2_Silent_p.A259A|CRISP3_ENST00000423399.2_Silent_p.A146A|CRISP3_ENST00000371159.4_Silent_p.A267A			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	236	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AATTGCAGGAGGCCTTGCAAC	0.403													G|||	778	0.155351	0.2413	0.0634	5008	,	,		17608	0.1875		0.1103	False		,,,				2504	0.1176															0								G	,	853,3553	334.9+/-303.7	68,717,1418	186	167	174		777,747	-2.8	0	6	dbSNP_83	174	961,7639	209.4+/-250.6	61,839,3400	no	coding-synonymous,coding-synonymous	CRISP3	NM_001190986.1,NM_006061.2	,	129,1556,4818	TT,TG,GG		11.1744,19.36,13.9474	,	259/269,249/259	49696473	1814,11192	2203	4300	6503	SO:0001819	synonymous_variant	10321			X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.708C>A	6.37:g.49696473G>T			A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37																																																																																					0.403	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		T	49696473	G	T	49696473	2	4	358	1	0	0	0	0	0	0	0	1	3883	987	35	4		4	CRISP3	6	49696473	Silent	SNP	G	TCGA-BP-4774-01A-01D-1366-10		49696473	121418594	21	20272											
NPC1L1	29881	hgsc.bcm.edu	37	7	44579311	44579311	+	Missense_Mutation	SNP	C	C	G	rs371689322		TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr7:44579311C>G	ENST00000289547.4	-	2	740	c.685G>C	c.(685-687)Gtg>Ctg	p.V229L	NPC1L1_ENST00000546276.1_Missense_Mutation_p.V229L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V229L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.V229L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	229					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.V229M(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCACTCCCCACGGCCTGGCCA	0.607																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)											73	69	70					7																	44579311		2203	4300	6503	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.685G>C	7.37:g.44579311C>G	ENSP00000289547:p.Val229Leu		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	0.238	-1.016094	0.02078	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	5.04	1.1	0.20463	.	1.728030	0.03144	N	0.166995	T	0.75243	0.3823	N	0.02916	-0.46	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.63466	-0.6631	10	0.26408	T	0.33	-0.4081	6.99	0.24750	0.1688:0.4695:0.3617:0.0	.	229;229;229;229	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	L	229	ENSP00000289547:V229L;ENSP00000370552:V229L;ENSP00000438033:V229L;ENSP00000404670:V229L	ENSP00000289547:V229L	V	-	1	0	NPC1L1	44545836	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.193000	0.09573	-0.077000	0.12752	-0.519000	0.04390	GTG		0.607	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		G	44579311	C	G	44579311	3	3	358	1	0	0	0	0	1	0	0	0	10573	536	19	4	3470	4	NPC1L1	7	44579311	Missense_Mutation	SNP	C	TCGA-BP-4774-01A-01D-1366-10		44579311	114559352	22	20273											
VPS13B	157680	hgsc.bcm.edu;ucsc.edu	37	8	100479735	100479735	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr8:100479735G>A	ENST00000358544.2	+	24	3650	c.3539G>A	c.(3538-3540)gGt>gAt	p.G1180D	VPS13B_ENST00000395996.1_Missense_Mutation_p.G1180D|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1180D	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1180					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAACCTATGGGTTGCACCTCC	0.443																																					Colon(161;2205 2542 7338 31318)											0													248	222	231					8																	100479735		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3539G>A	8.37:g.100479735G>A	ENSP00000351346:p.Gly1180Asp		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877581	0.91664	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.54071	0.59;0.59;0.59	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.91635	0.967;0.983;0.999;0.992	T	0.70475	-0.4861	10	0.52906	T	0.07	.	19.6505	0.95798	0.0:0.0:1.0:0.0	.	1179;1180;1180;1180	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	D	1180	ENSP00000349685:G1180D;ENSP00000351346:G1180D;ENSP00000379318:G1180D	ENSP00000349685:G1180D	G	+	2	0	VPS13B	100548911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.224000	0.95209	2.636000	0.89361	0.561000	0.74099	GGT		0.443	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		A	100479735	G	A	100479735	3	1	358	1	0	0	0	0	1	0	0	0	17195	1261	44	2	3752	2	VPS13B	8	100479735	Missense_Mutation	SNP	G	TCGA-BP-4774-01A-01D-1366-10		100479735	45884287	23	20274											
LRP12	29967	hgsc.bcm.edu;ucsc.edu	37	8	105503566	105503566	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr8:105503566C>T	ENST00000276654.5	-	7	2023	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	LRP12_ENST00000424843.2_Missense_Mutation_p.E620K|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	639					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGATTTCTCTCAGGTTCTCTA	0.438																																																0													84	81	82					8																	105503566		2203	4300	6503	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1915G>A	8.37:g.105503566C>T	ENSP00000276654:p.Glu639Lys		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597127	0.87055	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.84873	-1.91;-1.83	6.02	6.02	0.97574	.	0.172461	0.52532	D	0.000080	T	0.78483	0.4290	N	0.19112	0.55	0.80722	D	1	P;P	0.40731	0.728;0.608	B;B	0.39339	0.297;0.156	T	0.75593	-0.3264	10	0.23891	T	0.37	-23.0801	20.5373	0.99239	0.0:1.0:0.0:0.0	.	620;639	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	K	620;639	ENSP00000399148:E620K;ENSP00000276654:E639K	ENSP00000276654:E639K	E	-	1	0	LRP12	105572742	1.000000	0.71417	0.971000	0.41717	0.949000	0.60115	5.522000	0.67092	2.857000	0.98124	0.650000	0.86243	GAG		0.438	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		T	105503566	C	T	105503566	3	4	358	1	0	0	0	0	1	0	0	0	8956	835	29	2	668	2	LRP12	8	105503566	Missense_Mutation	SNP	C	TCGA-BP-4774-01A-01D-1366-10	5023831	105503566	40860456	24	20275											
LAMC3	10319	hgsc.bcm.edu	37	9	133942399	133942399	+	Silent	SNP	C	C	T			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr9:133942399C>T	ENST00000361069.4	+	14	2533	c.2400C>T	c.(2398-2400)ctC>ctT	p.L800L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	800	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGCTGGGGCTCTTTGGGCACC	0.652																																																0													49	49	49					9																	133942399		2203	4300	6503	SO:0001819	synonymous_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2400C>T	9.37:g.133942399C>T			B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																				0.652	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		T	133942399	C	T	133942399	2	4	358	1	0	0	0	0	0	0	0	1	8618	900	32	2		2	LAMC3	9	133942399	Silent	SNP	C	TCGA-BP-4774-01A-01D-1366-10		133942399	7271032	25	20276											
KIAA1217	56243	hgsc.bcm.edu	37	10	24832825	24832825	+	Silent	SNP	G	G	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr10:24832825G>A	ENST00000376454.3	+	19	4656	c.4626G>A	c.(4624-4626)gaG>gaA	p.E1542E	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376451.2_Silent_p.E1225E|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1542					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACAGAACGGAGCTGAACAAGT	0.493																																																0													80	78	79					10																	24832825		2203	4300	6503	SO:0001819	synonymous_variant	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4626G>A	10.37:g.24832825G>A			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	CCDS31165.1																																																																																				0.493	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		A	24832825	G	A	24832825	2	1	358	1	0	0	0	0	0	0	0	1	8218	962	34	2		2	KIAA1217	10	24832825	Silent	SNP	G	TCGA-BP-4774-01A-01D-1366-10		24832825	110701922	26	20277											
ARHGAP1	392	hgsc.bcm.edu	37	11	46717596	46717596	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr11:46717596T>A	ENST00000311956.4	-	2	159	c.62A>T	c.(61-63)aAc>aTc	p.N21I		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	21					positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		CTTCAGCTGGTTCAGAGCCTC	0.577																																																0													75	58	64					11																	46717596		2201	4299	6500	SO:0001583	missense	392			BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"Rho GTPase activating proteins"	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.62A>T	11.37:g.46717596T>A	ENSP00000310491:p.Asn21Ile		D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	CCDS7922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.78|19.78	3.891382|3.891382	0.72524|0.72524	.|.	.|.	ENSG00000175220|ENSG00000175220	ENST00000528837|ENST00000311956;ENST00000443332;ENST00000525488	.|T;T	.|0.33654	.|2.2;1.4	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.191662	.|0.49305	.|D	.|0.000151	T|T	0.21881|0.21881	0.0527|0.0527	N|N	0.19112|0.19112	0.55|0.55	0.33366|0.33366	D|D	0.573005|0.573005	.|P;P	.|0.45283	.|0.855;0.553	.|B;B	.|0.38327	.|0.271;0.11	T|T	0.32295|0.32295	-0.9912|-0.9912	5|10	.|0.37606	.|T	.|0.19	.|.	9.8891|9.8891	0.41279|0.41279	0.0:0.087:0.0:0.913|0.0:0.087:0.0:0.913	.|.	.|21;21	.|B4DPZ4;Q07960	.|.;RHG01_HUMAN	D|I	18|21	.|ENSP00000310491:N21I;ENSP00000432794:N21I	.|ENSP00000310491:N21I	E|N	-|-	3|2	2|0	ARHGAP1|ARHGAP1	46674172|46674172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.688000|1.688000	0.37690|0.37690	1.982000|1.982000	0.57802|0.57802	0.454000|0.454000	0.30748|0.30748	GAA|AAC		0.577	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		A	46717596	T	A	46717596	3	1	358	1	0	0	0	0	1	0	0	0	861	1725	60	5	1305	5	ARHGAP1	11	46717596	Missense_Mutation	SNP	T	TCGA-BP-4774-01A-01D-1366-10		46717596	88288920	27	20278											
OR5T2	219464	hgsc.bcm.edu;ucsc.edu	37	11	56000108	56000108	+	Missense_Mutation	SNP	T	T	G	rs370158686		TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr11:56000108T>G	ENST00000313264.4	-	1	629	c.554A>C	c.(553-555)aAt>aCt	p.N185T		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATAGGAAGCATTGATGAGTGG	0.438																																																0								T	THR/ASN	0,4402		0,0,2201	210	179	190		554	-0.4	0	11		190	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5T2	NM_001004746.1	65	0,1,6496	GG,GT,TT		0.0116,0.0,0.0077	benign	185/360	56000108	1,12993	2201	4296	6497	SO:0001583	missense	219464			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.554A>C	11.37:g.56000108T>G	ENSP00000323688:p.Asn185Thr		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	t	0.013	-1.634617	0.00806	0.0	1.16E-4	ENSG00000181718	ENST00000313264	T	0.00392	7.58	5.07	-0.404	0.12396	GPCR, rhodopsin-like superfamily (1);	0.370475	0.19029	N	0.124609	T	0.00073	0.0002	N	0.00142	-2.005	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19516	-1.0303	10	0.19590	T	0.45	.	6.0865	0.19970	0.4219:0.0:0.4476:0.1305	.	185	Q8NGG2	OR5T2_HUMAN	T	185	ENSP00000323688:N185T	ENSP00000323688:N185T	N	-	2	0	OR5T2	55756684	0.000000	0.05858	0.003000	0.11579	0.108000	0.19459	-0.071000	0.11505	-0.271000	0.09272	-0.384000	0.06662	AAT		0.438	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		G	56000108	T	G	56000108	3	3	358	1	0	0	0	0	1	0	0	0	11184	1493	52	5	524	5	OR5T2	11	56000108	Missense_Mutation	SNP	T	TCGA-BP-4774-01A-01D-1366-10	9282512	56000108	79006408	28	20279											
AHNAK	79026	hgsc.bcm.edu;ucsc.edu	37	11	62287670	62287670	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr11:62287670T>G	ENST00000378024.4	-	5	14493	c.14219A>C	c.(14218-14220)gAt>gCt	p.D4740A	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4740					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGGGTAACATCCACATCGCC	0.502																																																0													179	169	172					11																	62287670		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14219A>C	11.37:g.62287670T>G	ENSP00000367263:p.Asp4740Ala		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.176170	0.38413	.	.	ENSG00000124942	ENST00000378024	T	0.03358	3.96	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	H	0.97587	4.035	0.49915	D	0.999832	D	0.76494	0.999	D	0.87578	0.998	T	0.39461	-0.9613	10	0.30854	T	0.27	-25.8564	11.9431	0.52913	0.0:0.0:0.0:1.0	.	4740	Q09666	AHNK_HUMAN	A	4740	ENSP00000367263:D4740A	ENSP00000367263:D4740A	D	-	2	0	AHNAK	62044246	0.988000	0.35896	0.926000	0.36857	0.116000	0.19942	3.370000	0.52372	1.839000	0.53478	0.391000	0.25812	GAT		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		G	62287670	T	G	62287670	3	3	358	1	0	0	0	0	1	0	0	0	414	1435	50	5	3573	5	AHNAK	11	62287670	Missense_Mutation	SNP	T	TCGA-BP-4774-01A-01D-1366-10	6287562	62287670	72718846	29	20280											
MLL2	8085	hgsc.bcm.edu	37	12	49433132	49433132	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr12:49433132T>C	ENST00000301067.7	-	33	8238	c.8239A>G	c.(8239-8241)Agc>Ggc	p.S2747G	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2747					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCACAAGGCTGCTCTTGTCC	0.592																																																0													25	30	28					12																	49433132		1916	4128	6044	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8239A>G	12.37:g.49433132T>C	ENSP00000301067:p.Ser2747Gly		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	7.252	0.603342	0.14002	.	.	ENSG00000167548	ENST00000301067	T	0.79749	-1.3	5.47	4.3	0.51218	.	0.370314	0.19963	N	0.102166	T	0.71367	0.3331	L	0.39898	1.24	0.23238	N	0.998066	B	0.02656	0.0	B	0.04013	0.001	T	0.64334	-0.6432	10	0.87932	D	0	.	8.491	0.33100	0.0:0.0916:0.0:0.9084	.	2747	O14686	MLL2_HUMAN	G	2747	ENSP00000301067:S2747G	ENSP00000301067:S2747G	S	-	1	0	MLL2	47719399	0.052000	0.20516	0.970000	0.41538	0.145000	0.21501	0.908000	0.28545	2.212000	0.71576	0.533000	0.62120	AGC		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49433132	T	C	49433132	3	2	358	1	0	0	0	0	1	0	0	0	9623	1580	55	3	8462	3	MLL2	12	49433132	Missense_Mutation	SNP	T	TCGA-BP-4774-01A-01D-1366-10		49433132	84418763	30	20281											
MYF6	4618	hgsc.bcm.edu	37	12	81101767	81101767	+	Missense_Mutation	SNP	C	C	A	rs138296448	byFrequency	TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr12:81101767C>A	ENST00000228641.3	+	1	491	c.269C>A	c.(268-270)gCc>gAc	p.A90D		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	90			A -> D (in CNM3; dbSNP:rs138296448). {ECO:0000269|Ref.7}.		muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A90V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGAAAATCTGCCCCCACTGAC	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		15255	0.0		0.002	False		,,,				2504	0.0															1	Substitution - Missense(1)	central_nervous_system(1)	GRCh37	CM983940	MYF6	M	rs138296448	C	ASP/ALA	3,4403	6.2+/-15.9	0,3,2200	33	39	37		269	5.6	1	12	dbSNP_134	37	17,8583	11.9+/-42.8	0,17,4283	yes	missense	MYF6	NM_002469.2	126	0,20,6483	AA,AC,CC		0.1977,0.0681,0.1538	probably-damaging	90/243	81101767	20,12986	2203	4300	6503	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.269C>A	12.37:g.81101767C>A	ENSP00000228641:p.Ala90Asp		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	CCDS9019.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.9	4.211323	0.79240	6.81E-4	0.001977	ENSG00000111046	ENST00000228641	T	0.78364	-1.17	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (2);Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86855	0.2026	10	0.59425	D	0.04	-15.8183	19.6517	0.95819	0.0:1.0:0.0:0.0	.	90	P23409	MYF6_HUMAN	D	90	ENSP00000228641:A90D	ENSP00000228641:A90D	A	+	2	0	MYF6	79625898	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.459000	0.80802	2.662000	0.90505	0.655000	0.94253	GCC		0.622	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		A	81101767	C	A	81101767	3	1	358	1	0	0	0	0	1	0	0	0	10030	739	26	4	271	4	MYF6	12	81101767	Missense_Mutation	SNP	C	TCGA-BP-4774-01A-01D-1366-10	31668635	81101767	52750128	31	20282											
PARP4	143	hgsc.bcm.edu	37	13	25016008	25016008	+	Silent	SNP	C	C	T	rs59195808	byFrequency	TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr13:25016008C>T	ENST00000381989.3	-	30	3747	c.3642G>A	c.(3640-3642)gaG>gaA	p.E1214E		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1214					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTTCTTGGGGCTCCCCCTGCC	0.433																																																0													50	52	52					13																	25016008		2203	4298	6501	SO:0001819	synonymous_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3642G>A	13.37:g.25016008C>T			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	CCDS9307.1																																																																																				0.433	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		T	25016008	C	T	25016008	2	4	358	1	0	0	0	0	0	0	0	1	11465	796	28	2		2	PARP4	13	25016008	Silent	SNP	C	TCGA-BP-4774-01A-01D-1366-10		25016008	90153870	32	20283											
DNAJC15	29103	hgsc.bcm.edu;ucsc.edu	37	13	43652746	43652746	+	Splice_Site	SNP	A	A	G			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr13:43652746A>G	ENST00000379221.2	+	4	658		c.e4-1		DNAJC15_ENST00000474320.1_Splice_Site	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15						cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		TTTCCTATACAGAGCTTTTCA	0.393																																																0													147	137	141					13																	43652746		2203	4300	6503	SO:0001630	splice_region_variant	29103			AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"Heat shock proteins / DNAJ (HSP40)"	20325	protein-coding gene	gene with protein product		615339	"DnaJ (Hsp40) homolog, subfamily D, member 1"	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.235-1A>G	13.37:g.43652746A>G			B2R4L0|Q5T219|Q6X963	Splice_Site	SNP	ENST00000379221.2	37	CCDS9388.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.143372	0.37825	.	.	ENSG00000120675	ENST00000379221	.	.	.	5.98	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5363	0.50639	0.9307:0.0:0.0693:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC15	42550746	1.000000	0.71417	0.982000	0.44146	0.373000	0.29922	5.716000	0.68437	2.289000	0.77006	0.533000	0.62120	.		0.393	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044709.2	NM_013238	Intron	G	43652746	A	G	43652746	5	3	358	1	0	0	0	0	0	0	1	0	4636	202	7	3	247	3	DNAJC15	13	43652746	Splice_Site	SNP	A	TCGA-BP-4774-01A-01D-1366-10	18636738	43652746	71517132	33	20284											
SSTR1	6751	hgsc.bcm.edu	37	14	38679408	38679409	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr14:38679408_38679409insTG	ENST00000267377.2	+	3	1431_1432	c.814_815insTG	c.(814-816)atgfs	p.M272fs		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	272					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GATCACCTTAATGGTGATGATG	0.564																																																0																																										SO:0001589	frameshift_variant	6751				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.815_816dupTG	14.37:g.38679409_38679410dupTG	ENSP00000267377:p.Met272fs			Frame_Shift_Ins	INS	ENST00000267377.2	37	CCDS9666.1																																																																																				0.564	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			TG	38679409	-	TG	38679408	7	5	358	1	0	1	1	0	0	0	0	0	15202	101	4	0	816	0	SSTR1	14	38679408	Frame_Shift_Ins	INS	-	TCGA-BP-4774-01A-01D-1366-10		38679408	68670132	34	20285											
SNAPC1	6617	hgsc.bcm.edu;ucsc.edu	37	14	62234060	62234060	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr14:62234060T>A	ENST00000216294.4	+	3	523	c.419T>A	c.(418-420)aTg>aAg	p.M140K	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	140	SNAPC3-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TTTACAGCAATGCCCAAATTG	0.313																																					NSCLC(27;223 907 37180 39193 46568)											0													90	89	89					14																	62234060		2203	4300	6503	SO:0001583	missense	6617			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"small nuclear RNA activating complex, polypeptide 1, 43kD"			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.419T>A	14.37:g.62234060T>A	ENSP00000216294:p.Met140Lys			Missense_Mutation	SNP	ENST00000216294.4	37	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529346	0.85706	.	.	ENSG00000023608	ENST00000216294	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.76269	-0.3021	9	0.32370	T	0.25	-25.836	16.8222	0.85835	0.0:0.0:0.0:1.0	.	140	Q16533	SNPC1_HUMAN	K	140	.	ENSP00000216294:M140K	M	+	2	0	SNAPC1	61303813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.329000	0.59260	2.371000	0.80710	0.533000	0.62120	ATG		0.313	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		A	62234060	T	A	62234060	3	1	358	1	0	0	0	0	1	0	0	0	14840	1464	51	5	429	5	SNAPC1	14	62234060	Missense_Mutation	SNP	T	TCGA-BP-4774-01A-01D-1366-10	23554652	62234060	45115480	35	20286											
KCNAB3	9196	hgsc.bcm.edu	37	17	7827771	7827771	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr17:7827771A>T	ENST00000303790.2	-	9	672	c.673T>A	c.(673-675)Tac>Aac	p.Y225N		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	225					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				GTCCCCCAGTATAGGGCCAGG	0.552																																																0													102	88	93					17																	7827771		2203	4300	6503	SO:0001583	missense	9196			AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"Potassium channels", "Aldo-keto reductases"	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.673T>A	17.37:g.7827771A>T	ENSP00000302719:p.Tyr225Asn		Q4VAW0	Missense_Mutation	SNP	ENST00000303790.2	37	CCDS11124.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650966	0.87958	.	.	ENSG00000170049	ENST00000303790	T	0.25579	1.79	5.69	5.69	0.88448	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80195	-0.1483	10	0.87932	D	0	.	15.9373	0.79720	1.0:0.0:0.0:0.0	.	225	O43448	KCAB3_HUMAN	N	225	ENSP00000302719:Y225N	ENSP00000302719:Y225N	Y	-	1	0	KCNAB3	7768496	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.173000	0.68751	0.459000	0.35465	TAC		0.552	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		T	7827771	A	T	7827771	3	4	358	1	0	0	0	0	1	0	0	0	8013	449	16	5	565	5	KCNAB3	17	7827771	Missense_Mutation	SNP	A	TCGA-BP-4774-01A-01D-1366-10		7827771	73367439	36	20287											
TEX2	55852	hgsc.bcm.edu	37	17	62290991	62290991	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr17:62290991G>C	ENST00000583097.1	-	2	759	c.587C>G	c.(586-588)tCg>tGg	p.S196W	TEX2_ENST00000258991.3_Missense_Mutation_p.S196W|TEX2_ENST00000584379.1_Missense_Mutation_p.S196W			Q8IWB9	TEX2_HUMAN	testis expressed 2	196					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CACCTCGGTCGACAGGGACTT	0.547																																																0													61	60	61					17																	62290991		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.587C>G	17.37:g.62290991G>C	ENSP00000462665:p.Ser196Trp		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37		.	.	.	.	.	.	.	.	.	.	G	11.24	1.579973	0.28180	.	.	ENSG00000136478	ENST00000258991	T	0.58652	0.32	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75997	-0.3120	10	0.87932	D	0	-11.4117	20.5568	0.99304	0.0:0.0:1.0:0.0	.	196;196	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	W	196	ENSP00000258991:S196W	ENSP00000258991:S196W	S	-	2	0	TEX2	59644723	1.000000	0.71417	0.971000	0.41717	0.630000	0.37929	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	TCG		0.547	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		C	62290991	G	C	62290991	3	2	358	1	0	0	0	0	1	0	0	0	15786	1059	37	4	2861	4	TEX2	17	62290991	Missense_Mutation	SNP	G	TCGA-BP-4774-01A-01D-1366-10	54463220	62290991	18904219	37	20288											
ZNF554	115196	hgsc.bcm.edu;ucsc.edu	37	19	2833757	2833757	+	Missense_Mutation	SNP	A	A	G	rs377370056		TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr19:2833757A>G	ENST00000317243.5	+	5	722	c.524A>G	c.(523-525)aAt>aGt	p.N175S	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGGTATAAATATGATAAAG	0.453																																																0													76	78	77					19																	2833757		1860	4105	5965	SO:0001583	missense	115196			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.524A>G	19.37:g.2833757A>G	ENSP00000321132:p.Asn175Ser		Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.519310	0.00967	.	.	ENSG00000172006	ENST00000317243	T	0.06142	3.34	2.46	-2.42	0.06542	.	.	.	.	.	T	0.03011	0.0089	N	0.19112	0.55	0.21064	N	0.999794	B	0.02656	0.0	B	0.04013	0.001	T	0.47935	-0.9078	9	0.07990	T	0.79	.	4.5054	0.11885	0.4574:0.1768:0.3658:0.0	.	175	Q86TJ5	ZN554_HUMAN	S	175	ENSP00000321132:N175S	ENSP00000321132:N175S	N	+	2	0	ZNF554	2784757	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.961000	0.01516	-0.615000	0.05679	-1.181000	0.01715	AAT		0.453	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		G	2833757	A	G	2833757	3	3	358	1	0	0	0	0	1	0	0	0	17990	101	4	3	542	3	ZNF554	19	2833757	Missense_Mutation	SNP	A	TCGA-BP-4774-01A-01D-1366-10		2833757	56295226	38	20289											
FZR1	51343	hgsc.bcm.edu	37	19	3532608	3532608	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr19:3532608A>G	ENST00000395095.3	+	10	1202	c.1202A>G	c.(1201-1203)cAa>cGa	p.Q401R	FZR1_ENST00000313639.8_Missense_Mutation_p.Q312R|FZR1_ENST00000441788.2_Missense_Mutation_p.Q401R	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	401					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGGCTCCCAAGTGTGCAAT	0.667																																																0													37	36	36					19																	3532608		2202	4300	6502	SO:0001583	missense	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1202A>G	19.37:g.3532608A>G	ENSP00000378529:p.Gln401Arg		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	a	21.3	4.128906	0.77549	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.28454	1.61;1.61;5.03	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	H	0.99090	4.425	0.80722	D	1	D;D;P	0.76494	0.994;0.999;0.915	D;D;P	0.75484	0.972;0.986;0.635	D	0.83983	0.0333	10	0.87932	D	0	-20.3574	13.3497	0.60595	1.0:0.0:0.0:0.0	.	401;312;401	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	R	401;401;312	ENSP00000410369:Q401R;ENSP00000378529:Q401R;ENSP00000321800:Q312R	ENSP00000321800:Q312R	Q	+	2	0	FZR1	3483608	1.000000	0.71417	0.998000	0.56505	0.614000	0.37383	9.003000	0.93577	1.840000	0.53500	0.439000	0.28862	CAA		0.667	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		G	3532608	A	G	3532608	3	3	358	1	0	0	0	0	1	0	0	0	6140	130	5	3	1240	3	FZR1	19	3532608	Missense_Mutation	SNP	A	TCGA-BP-4774-01A-01D-1366-10	698851	3532608	55596375	39	20290											
OR10H1	26539	hgsc.bcm.edu	37	19	15918527	15918527	+	Silent	SNP	G	G	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr19:15918527G>A	ENST00000334920.2	-	1	409	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GGGTGAAGCCGAAGCTGAAGG	0.647																																																0													33	32	32					19																	15918527		2202	4277	6479	SO:0001819	synonymous_variant	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.321C>T	19.37:g.15918527G>A			Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	CCDS12335.1																																																																																				0.647	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			A	15918527	G	A	15918527	2	1	358	1	0	0	0	0	0	0	0	1	10907	1049	37	1		1	OR10H1	19	15918527	Silent	SNP	G	TCGA-BP-4774-01A-01D-1366-10	12385919	15918527	43210456	40	20291											
TOP3B	8940	hgsc.bcm.edu	37	22	22318352	22318352	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr22:22318352C>A	ENST00000398793.2	-	11	1581	c.1147G>T	c.(1147-1149)Gac>Tac	p.D383Y	TOP3B_ENST00000357179.5_Missense_Mutation_p.D383Y|TOP3B_ENST00000413067.2_Missense_Mutation_p.D112Y	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	383					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCGCCGGCGTCATGGCCTTTC	0.612																																																0													75	75	75					22																	22318352		2203	4300	6503	SO:0001583	missense	8940			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1147G>T	22.37:g.22318352C>A	ENSP00000381773:p.Asp383Tyr		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	CCDS13797.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.01|18.01	3.528824|3.528824	0.64860|0.64860	.|.	.|.	ENSG00000100038|ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067|ENST00000457270	T;T;T|.	0.22539|.	1.95;1.95;1.95|.	4.71|4.71	4.71|4.71	0.59529|0.59529	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88153|0.88153	0.6360|0.6360	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.997|.	D|D	0.92348|0.92348	0.5887|0.5887	10|5	0.87932|.	D|.	0|.	.|.	17.8567|17.8567	0.88765|0.88765	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	383;383|.	O95985;O95985-2|.	TOP3B_HUMAN;.|.	Y|I	383;383;112|177	ENSP00000349705:D383Y;ENSP00000381773:D383Y;ENSP00000393118:D112Y|.	ENSP00000349705:D383Y|.	D|M	-|-	1|3	0|0	TOP3B|TOP3B	20648352|20648352	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.196000|0.196000	0.23810|0.23810	7.284000|7.284000	0.78650|0.78650	2.462000|2.462000	0.83206|0.83206	0.561000|0.561000	0.74099|0.74099	GAC|ATG		0.612	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		A	22318352	C	A	22318352	3	1	358	1	0	0	0	0	1	0	0	0	16373	826	29	4	1473	4	TOP3B	22	22318352	Missense_Mutation	SNP	C	TCGA-BP-4774-01A-01D-1366-10		22318352	28986214	41	20292											
ARSA	410	hgsc.bcm.edu	37	22	51065093	51065093	+	Silent	SNP	C	C	G	rs368769871		TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chr22:51065093C>G	ENST00000547307.1	-	4	1179	c.774G>C	c.(772-774)gtG>gtC	p.V258V	ARSA_ENST00000395619.3_Silent_p.V260V|ARSA_ENST00000453344.2_Silent_p.V174V|ARSA_ENST00000216124.5_Silent_p.V260V|ARSA_ENST00000547805.1_Silent_p.V258V|ARSA_ENST00000395621.3_Silent_p.V260V|ARSA_ENST00000356098.5_Silent_p.V260V			P15289	ARSA_HUMAN	arylsulfatase A	258					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	TCAGGGTCCCCACAGCTGCAT	0.612																																																0								C	,,,,	1,4405	2.1+/-5.4	0,1,2202	49	48	49		780,780,780,780,522	-0.6	1	22		49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARSA	NM_000487.5,NM_001085425.2,NM_001085426.2,NM_001085427.2,NM_001085428.2	,,,,	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	,,,,	260/510,260/510,260/510,260/510,174/424	51065093	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	410			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.774G>C	22.37:g.51065093C>G			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Silent	SNP	ENST00000547307.1	37																																																																																					0.612	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		G	51065093	C	G	51065093	2	3	358	1	0	0	0	0	0	0	0	1	987	581	21	4		4	ARSA	22	51065093	Silent	SNP	C	TCGA-BP-4774-01A-01D-1366-10	28746741	51065093	239473	42	20293											
HUWE1	10075	hgsc.bcm.edu	37	X	53622278	53622278	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chrX:53622278C>A	ENST00000342160.3	-	29	3706	c.3249G>T	c.(3247-3249)agG>agT	p.R1083S	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1083S|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1083S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1083					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R946S(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATGATGGCTCCTTCTCTGGC	0.527																																																2	Substitution - Missense(2)	breast(2)											96	66	76					X																	53622278		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3249G>T	X.37:g.53622278C>A	ENSP00000340648:p.Arg1083Ser		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.54|13.54	2.266494|2.266494	0.40095|0.40095	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854;ENST00000218328	.|T;T;T	.|0.55413	.|0.82;0.82;0.52	5.67|5.67	-2.12|-2.12	0.07165|0.07165	.|.	.|0.055917	.|0.64402	.|D	.|0.000002	.|T	.|0.37625	.|0.1010	L|L	0.43152|0.43152	1.355|1.355	0.45118|0.45118	D|D	0.99813|0.99813	.|P	.|0.38677	.|0.642	.|B	.|0.31442	.|0.13	.|T	.|0.18209	.|-1.0344	.|10	.|0.56958	.|D	.|0.05	.|.	12.9252|12.9252	0.58257|0.58257	0.0:0.3812:0.0:0.6188|0.0:0.3812:0.0:0.6188	.|.	.|1083	.|Q7Z6Z7	.|HUWE1_HUMAN	X|S	117|1083	.|ENSP00000340648:R1083S;ENSP00000262854:R1083S;ENSP00000218328:R1083S	.|ENSP00000218328:R1083S	E|R	-|-	1|3	0|2	HUWE1|HUWE1	53639003|53639003	0.855000|0.855000	0.29742|0.29742	0.829000|0.829000	0.32907|0.32907	0.826000|0.826000	0.46750|0.46750	-0.184000|-0.184000	0.09698|0.09698	-0.623000|-0.623000	0.05618|0.05618	-0.926000|-0.926000	0.02714|0.02714	GAG|AGG		0.527	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53622278	C	A	53622278	3	1	358	1	0	0	0	0	1	0	0	0	7463	854	30	4	10095	4	HUWE1	23	53622278	Missense_Mutation	SNP	C	TCGA-BP-4774-01A-01D-1366-10		53622278	101648282	43	20294											
FAAH2	158584	hgsc.bcm.edu;ucsc.edu	37	X	57337126	57337126	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chrX:57337126G>A	ENST00000374900.4	+	3	496	c.376G>A	c.(376-378)Gtt>Att	p.V126I		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	126						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CTTCCTTGGGGTTCCTTTGAC	0.413										HNSCC(52;0.14)																																						0													77	68	71					X																	57337126		2203	4300	6503	SO:0001583	missense	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.376G>A	X.37:g.57337126G>A	ENSP00000364035:p.Val126Ile		Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737364	0.49045	.	.	ENSG00000165591	ENST00000374900	T	0.54866	0.55	2.34	2.34	0.29019	Amidase signature domain (2);	0.000000	0.64402	U	0.000006	T	0.58637	0.2136	L	0.53729	1.69	0.38084	D	0.936775	D	0.60575	0.988	D	0.64237	0.923	T	0.57429	-0.7813	10	0.25106	T	0.35	.	8.0339	0.30480	0.0:0.0:1.0:0.0	.	126	Q6GMR7	FAAH2_HUMAN	I	126	ENSP00000364035:V126I	ENSP00000364035:V126I	V	+	1	0	FAAH2	57353851	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	2.641000	0.46587	0.894000	0.36317	0.415000	0.27848	GTT		0.413	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		A	57337126	G	A	57337126	3	1	358	1	0	0	0	0	1	0	0	0	5356	1261	44	2	386	2	FAAH2	23	57337126	Missense_Mutation	SNP	G	TCGA-BP-4774-01A-01D-1366-10	3714848	57337126	97933434	44	20295											
RGAG4	340526	hgsc.bcm.edu	37	X	71349973	71349973	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chrX:71349973G>C	ENST00000545866.1	-	1	1785	c.1418C>G	c.(1417-1419)aCc>aGc	p.T473S	RGAG4_ENST00000609883.1_Missense_Mutation_p.T473S|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	473										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GTGAACAAAGGTCGGCTCCAT	0.562																																																0													132	133	133					X																	71349973		2165	4230	6395	SO:0001583	missense	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1418C>G	X.37:g.71349973G>C	ENSP00000441366:p.Thr473Ser		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722158	0.30503	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.52983	0.64;0.64	3.87	2.84	0.33178	.	.	.	.	.	T	0.24236	0.0587	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.08055	0.003	T	0.16305	-1.0407	8	.	.	.	0.14	2.0754	0.03623	0.2417:0.0:0.4658:0.2925	.	473	Q5HYW3	RGAG4_HUMAN	S	473	ENSP00000441366:T473S;ENSP00000418667:T473S	.	T	-	2	0	RGAG4	71266698	0.011000	0.17503	0.001000	0.08648	0.148000	0.21650	2.039000	0.41193	0.734000	0.32515	0.500000	0.49745	ACC		0.562	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		C	71349973	G	C	71349973	3	2	358	1	0	0	0	0	1	0	0	0	13281	1261	44	4	295	4	RGAG4	23	71349973	Missense_Mutation	SNP	G	TCGA-BP-4774-01A-01D-1366-10	14012847	71349973	83920587	45	20296											
NXF2	728343	hgsc.bcm.edu	37	X	101615546	101615546	+	Silent	SNP	C	C	T	rs373516573		TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chrX:101615546C>T	ENST00000372750.1	-	27	2656	c.1857G>A	c.(1855-1857)gcG>gcA	p.A619A	NXF2B_ENST00000457521.2_Silent_p.A619A|NXF2B_ENST00000372749.1_Silent_p.A619A|NXF2B_ENST00000412230.2_Silent_p.A619A|NXF2B_ENST00000372752.1_3'UTR			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	619	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						TGAAGGCCTCCGCGGGGATCT	0.522																																																0													205	158	175					X																	101615546		1986	3348	5334	SO:0001819	synonymous_variant	728343				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.1857G>A	X.37:g.101615546C>T			Q9BXU4|Q9NSS1|Q9NX66	Silent	SNP	ENST00000372750.1	37	CCDS43979.1																																																																																				0.522	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058979.1			T	101615546	C	T	101615546	2	4	358	1	0	0	0	0	0	0	0	1	10785	639	23	1		1	NXF2	23	101615546	Silent	SNP	C	TCGA-BP-4774-01A-01D-1366-10	30265573	101615546	53655014	46	20297											
PAK3	5063	hgsc.bcm.edu	37	X	110406199	110406199	+	Silent	SNP	T	T	C			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chrX:110406199T>C	ENST00000372010.1	+	10	1012	c.570T>C	c.(568-570)gaT>gaC	p.D190D	PAK3_ENST00000446737.1_Silent_p.D175D|PAK3_ENST00000518291.1_Silent_p.D211D|PAK3_ENST00000360648.4_Silent_p.D211D|PAK3_ENST00000262836.4_Silent_p.D190D|PAK3_ENST00000372007.5_Silent_p.D175D|PAK3_ENST00000417227.1_Silent_p.D196D|PAK3_ENST00000519681.1_Silent_p.D196D|PAK3_ENST00000425146.1_Silent_p.D175D			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	190	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						aagaagaagatgaagaggaag	0.408										TSP Lung(19;0.15)																																						0													130	118	122					X																	110406199		2203	4299	6502	SO:0001819	synonymous_variant	5063			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.570T>C	X.37:g.110406199T>C			A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	CCDS48153.1																																																																																				0.408	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		C	110406199	T	C	110406199	2	2	358	1	0	0	0	0	0	0	0	1	11404	1461	51	3		3	PAK3	23	110406199	Silent	SNP	T	TCGA-BP-4774-01A-01D-1366-10	8790653	110406199	44864361	47	20298											
IDH3G	3421	hgsc.bcm.edu	37	X	153055662	153055662	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chrX:153055662T>A	ENST00000217901.5	-	4	417	c.221A>T	c.(220-222)aAg>aTg	p.K74M	IDH3G_ENST00000427365.2_Missense_Mutation_p.K16M|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.K74M|IDH3G_ENST00000370092.3_Missense_Mutation_p.K74M	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	74					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGACGGACTTGACATGCAG	0.637																																																0													106	77	87					X																	153055662		2203	4300	6503	SO:0001583	missense	3421				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.221A>T	X.37:g.153055662T>A	ENSP00000217901:p.Lys74Met		E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011858	0.35511	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000444450	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	4.72	4.72	0.59763	Isopropylmalate dehydrogenase-like domain (2);	0.100855	0.64402	D	0.000002	T	0.78978	0.4369	M	0.72894	2.215	0.39463	D	0.96759	D;D	0.76494	0.999;0.999	D;D	0.72075	0.968;0.976	T	0.80723	-0.1255	10	0.46703	T	0.11	.	12.5502	0.56222	0.0:0.0:0.0:1.0	.	74;74	E9PDD5;P51553	.;IDH3G_HUMAN	M	74;74;74;16;51	ENSP00000359110:K74M;ENSP00000217901:K74M;ENSP00000359111:K74M;ENSP00000408529:K16M;ENSP00000401862:K51M	ENSP00000217901:K74M	K	-	2	0	IDH3G	152708856	1.000000	0.71417	0.991000	0.47740	0.050000	0.14768	2.203000	0.42752	1.670000	0.50864	0.430000	0.28490	AAG		0.637	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			A	153055662	T	A	153055662	3	1	358	1	0	0	0	0	1	0	0	0	7500	1609	56	5	1063	5	IDH3G	23	153055662	Missense_Mutation	SNP	T	TCGA-BP-4774-01A-01D-1366-10	42649463	153055662	2214898	48	20299											
PLXNA3	55558	hgsc.bcm.edu	37	X	153699461	153699461	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4774-01A-01D-1366-10	TCGA-BP-4774-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4034d194-0264-4594-a86f-a79daf5aca3f	ca015746-b3f1-488e-88e2-e0eed1ac69d6	g.chrX:153699461T>A	ENST00000369682.3	+	31	5345	c.5170T>A	c.(5170-5172)Ttc>Atc	p.F1724I		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1724					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCGCTGCGCTTCTGGGTGAA	0.597																																																0													90	80	83					X																	153699461		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5170T>A	X.37:g.153699461T>A	ENSP00000358696:p.Phe1724Ile		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	T	32	5.113717	0.94339	.	.	ENSG00000130827	ENST00000369682	T	0.24723	1.84	5.39	5.39	0.77823	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72090	-0.4395	10	0.87932	D	0	.	13.4017	0.60887	0.0:0.0:0.0:1.0	.	1724	P51805	PLXA3_HUMAN	I	1724	ENSP00000358696:F1724I	ENSP00000358696:F1724I	F	+	1	0	PLXNA3	153352655	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.033000	0.88852	1.807000	0.52817	0.430000	0.28490	TTC		0.597	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		A	153699461	T	A	153699461	3	1	358	1	0	0	0	0	1	0	0	0	12123	1609	56	5	5288	5	PLXNA3	23	153699461	Missense_Mutation	SNP	T	TCGA-BP-4774-01A-01D-1366-10	643799	153699461	1571099	49	20300											
FGR	2268	hgsc.bcm.edu;ucsc.edu	37	1	27941092	27941092	+	Silent	SNP	T	T	C			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr1:27941092T>C	ENST00000374005.3	-	11	1386	c.1098A>G	c.(1096-1098)gtA>gtG	p.V366V	FGR_ENST00000545953.1_Silent_p.V300V|FGR_ENST00000399173.1_Silent_p.V366V|FGR_ENST00000374004.1_Silent_p.V366V	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCCTCAGCTACCTGGGGGA	0.572																																																0													80	67	71					1																	27941092		2203	4300	6503	SO:0001819	synonymous_variant	2268			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1098A>G	1.37:g.27941092T>C			D3DPL7|Q9UIQ3	Silent	SNP	ENST00000374005.3	37	CCDS305.1																																																																																				0.572	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		C	27941092	T	C	27941092	2	2	359	1	0	0	0	0	0	0	0	1	5876	1509	53	3		3	FGR	1	27941092	Silent	SNP	T	TCGA-BP-4775-01A-01D-1366-10		27941092	221309529	1	20301											
FCRL1	115350	hgsc.bcm.edu;ucsc.edu	37	1	157765910	157765910	+	Silent	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr1:157765910C>T	ENST00000368176.3	-	11	1336	c.1269G>A	c.(1267-1269)gtG>gtA	p.V423V	FCRL1_ENST00000491942.1_Silent_p.V422V|FCRL1_ENST00000358292.3_3'UTR|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	423						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTCATAGTCCACATCTGTAA	0.448																																					GBM(54;482 1003 11223 30131 35730)											0													189	160	170					1																	157765910		2203	4300	6503	SO:0001819	synonymous_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1269G>A	1.37:g.157765910C>T			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	CCDS1170.1																																																																																				0.448	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		T	157765910	C	T	157765910	2	4	359	1	0	0	0	0	0	0	0	1	5796	581	21	2		2	FCRL1	1	157765910	Silent	SNP	C	TCGA-BP-4775-01A-01D-1366-10	129824818	157765910	91484711	2	20302											
RGL1	23179	hgsc.bcm.edu;ucsc.edu	37	1	183895346	183895346	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr1:183895346C>T	ENST00000360851.3	+	18	2405	c.2227C>T	c.(2227-2229)Cgt>Tgt	p.R743C	RGL1_ENST00000536277.1_Missense_Mutation_p.R741C|RGL1_ENST00000304685.4_Missense_Mutation_p.R778C|RGL1_ENST00000539189.1_Missense_Mutation_p.R714C			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	743					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGTGAAACTGCGTAGCCGGAC	0.502																																																0													92	87	88					1																	183895346		2203	4300	6503	SO:0001583	missense	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2227C>T	1.37:g.183895346C>T	ENSP00000354097:p.Arg743Cys		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	C	19.66	3.869890	0.72065	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.50813	0.73;0.73;0.74;0.74;0.73	5.37	5.37	0.77165	.	0.167388	0.52532	D	0.000065	T	0.53932	0.1827	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.995;0.995	D;P;P;P	0.74348	0.983;0.635;0.513;0.513	T	0.56263	-0.8008	10	0.72032	D	0.01	.	11.9427	0.52909	0.2687:0.7313:0.0:0.0	.	714;741;743;778	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	C	778;778;741;743;714	ENSP00000303192:R778C;ENSP00000356501:R778C;ENSP00000438662:R741C;ENSP00000354097:R743C;ENSP00000437355:R714C	ENSP00000303192:R778C	R	+	1	0	RGL1	182161969	1.000000	0.71417	0.618000	0.29105	0.973000	0.67179	2.492000	0.45311	2.666000	0.90696	0.650000	0.86243	CGT		0.502	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		T	183895346	C	T	183895346	3	4	359	1	0	0	0	0	1	0	0	0	13282	768	27	1	2402	1	RGL1	1	183895346	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	26129436	183895346	65355275	3	20303											
EXO1	9156	hgsc.bcm.edu;ucsc.edu	37	1	242030291	242030291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr1:242030291C>T	ENST00000366548.3	+	11	1794	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	EXO1_ENST00000518483.1_Nonsense_Mutation_p.R401*|EXO1_ENST00000348581.5_Nonsense_Mutation_p.R401*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	401	Interaction with MLH1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGGAGTGGAACGAGTGATTAG	0.423								Editing and processing nucleases																																								0													91	83	86					1																	242030291		2203	4300	6503	SO:0001587	stop_gained	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1201C>T	1.37:g.242030291C>T	ENSP00000355506:p.Arg401*		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Nonsense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	37	6.107999	0.97291	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	.	.	.	5.75	2.52	0.30459	.	0.368934	0.28803	N	0.014096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.719	8.2762	0.31874	0.3475:0.5708:0.0:0.0817	.	.	.	.	X	401	.	ENSP00000311873:R401X	R	+	1	2	EXO1	240096914	0.286000	0.24305	0.636000	0.29352	0.206000	0.24218	0.956000	0.29202	0.737000	0.32582	0.655000	0.94253	CGA		0.423	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		T	242030291	C	T	242030291	4	4	359	1	0	0	0	0	0	1	0	0	5302	528	19	1	1231	1	EXO1	1	242030291	Nonsense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	58134945	242030291	7220330	4	20304											
PLEKHH2	130271	hgsc.bcm.edu;ucsc.edu	37	2	43973017	43973017	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr2:43973017A>G	ENST00000282406.4	+	24	3678	c.3568A>G	c.(3568-3570)Att>Gtt	p.I1190V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1190	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGTGACATTATTTCCAAATG	0.373																																																0													67	62	63					2																	43973017		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3568A>G	2.37:g.43973017A>G	ENSP00000282406:p.Ile1190Val		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557534	0.86231	.	.	ENSG00000152527	ENST00000282406	T	0.55413	0.52	5.75	5.75	0.90469	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	M	0.81942	2.565	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.74982	-0.3478	10	0.42905	T	0.14	-25.22	16.0487	0.80740	1.0:0.0:0.0:0.0	.	1190	Q8IVE3	PKHH2_HUMAN	V	1190	ENSP00000282406:I1190V	ENSP00000282406:I1190V	I	+	1	0	PLEKHH2	43826521	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.051000	0.76627	2.196000	0.70406	0.460000	0.39030	ATT		0.373	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		G	43973017	A	G	43973017	3	3	359	1	0	0	0	0	1	0	0	0	12079	449	16	3	3658	3	PLEKHH2	2	43973017	Missense_Mutation	SNP	A	TCGA-BP-4775-01A-01D-1366-10		43973017	199226356	5	20305											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179399891	179399891	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr2:179399891C>G	ENST00000591111.1	-	308	96752	c.96528G>C	c.(96526-96528)gaG>gaC	p.E32176D	TTN_ENST00000359218.5_Missense_Mutation_p.E24877D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24752D|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24944D|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E33817D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31249D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32176					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)			TCATATATTTCTCATAGAGTT	0.398																																																0													105	102	103					2																	179399891		1891	4113	6004	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96528G>C	2.37:g.179399891C>G	ENSP00000465570:p.Glu32176Asp		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	9.866	1.197717	0.22037	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.82	1.62	0.23740	Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.20700	0.0498	N	0.08118	0	0.39883	D	0.973667	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.05500	-1.0881	9	0.87932	D	0	.	5.9395	0.19186	0.0886:0.5037:0.2698:0.1379	.	24752;24877;24944;32176	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	31249;24752;24944;24877;24749	ENSP00000343764:E31249D;ENSP00000434586:E24752D;ENSP00000340554:E24944D;ENSP00000352154:E24877D	ENSP00000340554:E24944D	E	-	3	2	TTN	179108137	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.267000	0.18552	0.355000	0.24131	0.557000	0.71058	GAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179399891	C	G	179399891	3	3	359	1	0	0	0	0	1	0	0	0	16740	912	32	4	6548	4	TTN	2	179399891	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	135426874	179399891	63799482	6	20306											
GLS	2744	hgsc.bcm.edu;ucsc.edu	37	2	191796274	191796274	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr2:191796274C>A	ENST00000320717.3	+	14	1819	c.1561C>A	c.(1561-1563)Ctt>Att	p.L521I	GLS_ENST00000409626.1_Missense_Mutation_p.L92I|GLS_ENST00000409428.1_Missense_Mutation_p.L26I|GLS_ENST00000338435.4_Missense_Mutation_p.L521I|GLS_ENST00000409215.1_Missense_Mutation_p.L26I	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	521					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	TTTACAGGATCTTGTTTCTCT	0.338																																																0													79	75	77					2																	191796274		2203	4295	6498	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1561C>A	2.37:g.191796274C>A	ENSP00000317379:p.Leu521Ile		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126716	0.77549	.	.	ENSG00000115419	ENST00000320717;ENST00000338435;ENST00000409626;ENST00000457316;ENST00000409428;ENST00000409215;ENST00000412247	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.74	5.74	0.90152	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.99;0.999;0.995	D;D;D;D;D	0.85130	0.996;0.997;0.992;0.996;0.995	T	0.77773	-0.2462	10	0.72032	D	0.01	-19.2116	13.1646	0.59562	0.0:0.9273:0.0:0.0727	.	92;521;175;521;521	B7Z2P1;A8K132;Q68D38;O94925;O94925-3	.;.;.;GLSK_HUMAN;.	I	521;521;92;92;26;26;42	ENSP00000317379:L521I;ENSP00000340689:L521I;ENSP00000386417:L92I;ENSP00000395596:L92I;ENSP00000387177:L26I;ENSP00000387135:L26I;ENSP00000403329:L42I	ENSP00000317379:L521I	L	+	1	0	GLS	191504519	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.980000	0.56895	2.723000	0.93209	0.591000	0.81541	CTT		0.338	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			A	191796274	C	A	191796274	3	1	359	1	0	0	0	0	1	0	0	0	6465	913	32	4	1615	4	GLS	2	191796274	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	12396383	191796274	51403099	7	20307											
TNS1	7145	hgsc.bcm.edu	37	2	218686541	218686541	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr2:218686541A>G	ENST00000171887.4	-	23	3634	c.3182T>C	c.(3181-3183)cTg>cCg	p.L1061P	TNS1_ENST00000430930.1_Missense_Mutation_p.L1040P|TNS1_ENST00000419504.1_Missense_Mutation_p.L1048P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1061					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCGTTCCTCAGGGGTATCTC	0.647																																																0													21	22	22					2																	218686541		2202	4298	6500	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3182T>C	2.37:g.218686541A>G	ENSP00000171887:p.Leu1061Pro		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637408	0.29157	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.92397	-3.03;1.97;-2.99;-3.03	4.41	4.41	0.53225	.	0.705172	0.12700	N	0.446434	D	0.85890	0.5802	N	0.24115	0.695	0.58432	D	0.999999	P;P;P	0.51351	0.883;0.944;0.944	P;B;P	0.44860	0.462;0.439;0.462	D	0.83650	0.0155	10	0.66056	D	0.02	.	4.6963	0.12806	0.7313:0.0:0.099:0.1698	.	1061;1040;1048	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	P	1061;199;1048;1040	ENSP00000171887:L1061P;ENSP00000394171:L199P;ENSP00000408724:L1048P;ENSP00000406016:L1040P	ENSP00000171887:L1061P	L	-	2	0	TNS1	218394786	0.996000	0.38824	0.936000	0.37596	0.569000	0.35902	3.457000	0.53007	1.631000	0.50456	0.459000	0.35465	CTG		0.647	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		G	218686541	A	G	218686541	3	3	359	1	0	0	0	0	1	0	0	0	16348	188	7	3	2069	3	TNS1	2	218686541	Missense_Mutation	SNP	A	TCGA-BP-4775-01A-01D-1366-10	26890267	218686541	24512832	8	20308											
TRANK1	9881	hgsc.bcm.edu;ucsc.edu	37	3	36871105	36871108	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	CTGA	CTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr3:36871105_36871108delCTGA	ENST00000429976.2	-	22	8871_8874	c.8624_8627delTCAG	c.(8623-8628)gtcaggfs	p.VR2875fs	TRANK1_ENST00000428977.2_Frame_Shift_Del_p.VR2325fs|TRANK1_ENST00000301807.6_Frame_Shift_Del_p.VR2325fs	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2875							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCGTGCATCCCTGACTGACAGGAT	0.49																																																0																																										SO:0001589	frameshift_variant	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8624_8627delTCAG	3.37:g.36871109_36871112delCTGA	ENSP00000416168:p.Val2875fs		Q8N8K0	Frame_Shift_Del	DEL	ENST00000429976.2	37	CCDS46789.2																																																																																				0.49	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		-	36871108	CTGA	-	36871105	7	5	359	1	0	1	0	1	0	0	0	0	16459	681	24	0	158	0	TRANK1	3	36871105	Frame_Shift_Del	DEL	CTGA	TCGA-BP-4775-01A-01D-1366-10		36871105	161151325	9	20309											
BOC	91653	hgsc.bcm.edu	37	3	113002344	113002344	+	Missense_Mutation	SNP	C	C	T	rs147067616		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr3:113002344C>T	ENST00000495514.1	+	16	3222	c.2518C>T	c.(2518-2520)Ccg>Tcg	p.P840S	BOC_ENST00000273395.4_Missense_Mutation_p.P841S|BOC_ENST00000355385.3_Missense_Mutation_p.P840S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	840					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CATAGAGCGGCCGGTGGGCAC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		15709	0.0		0.001	False		,,,				2504	0.0															0								C	SER/PRO	0,4406		0,0,2203	80	89	86		2518	5.8	0.9	3	dbSNP_134	86	4,8594	3.7+/-12.6	0,4,4295	yes	missense	BOC	NM_033254.2	74	0,4,6498	TT,TC,CC		0.0465,0.0,0.0308	benign	840/1115	113002344	4,13000	2203	4299	6502	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2518C>T	3.37:g.113002344C>T	ENSP00000418663:p.Pro840Ser		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.235	0.805475	0.16467	0.0	4.65E-4	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.62105	0.05;0.06;0.05	5.85	5.85	0.93711	.	0.220829	0.36519	N	0.002551	T	0.58395	0.2119	L	0.35414	1.06	0.37154	D	0.902281	P;B;B	0.49559	0.925;0.046;0.027	P;B;B	0.47162	0.54;0.059;0.027	T	0.55347	-0.8155	10	0.11182	T	0.66	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	657;841;840	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	840;841;840	ENSP00000418663:P840S;ENSP00000273395:P841S;ENSP00000347546:P840S	ENSP00000273395:P841S	P	+	1	0	BOC	114485034	1.000000	0.71417	0.925000	0.36789	0.131000	0.20780	2.721000	0.47260	2.767000	0.95098	0.655000	0.94253	CCG		0.622	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		T	113002344	C	T	113002344	3	4	359	1	0	0	0	0	1	0	0	0	1481	739	26	2	2572	2	BOC	3	113002344	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	76131239	113002344	85020086	10	20310											
ACPL2	92370	hgsc.bcm.edu;ucsc.edu	37	3	141011927	141011927	+	Silent	SNP	T	T	C			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr3:141011927T>C	ENST00000286353.4	+	6	1460	c.1323T>C	c.(1321-1323)cgT>cgC	p.R441R	ACPL2_ENST00000393007.1_Silent_p.R425R|ACPL2_ENST00000504264.1_Silent_p.R424R|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000508812.1_Silent_p.R432R|ACPL2_ENST00000502783.1_Silent_p.R403R|ACPL2_ENST00000393010.2_Silent_p.R441R	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		441						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ACCACAAGCGTTCTCCCAAGC	0.493																																																0													97	94	95					3																	141011927		2203	4300	6503	SO:0001819	synonymous_variant	92370																														ENST00000286353.4:c.1323T>C	3.37:g.141011927T>C			D3DNF5|Q49AJ2|W0TR04	Silent	SNP	ENST00000286353.4	37	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	T	7.590	0.670579	0.14776	.	.	ENSG00000155893	ENST00000332228	.	.	.	5.72	-2.11	0.07187	.	.	.	.	.	T	0.14570	0.0352	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25187	-1.0139	5	0.15952	T	0.53	.	1.711	0.02892	0.1217:0.2723:0.1374:0.4685	.	.	.	.	A	237	.	ENSP00000327587:V237A	V	+	2	0	ACPL2	142494617	0.002000	0.14202	0.005000	0.12908	0.957000	0.61999	0.004000	0.13106	-0.620000	0.05641	0.533000	0.62120	GTT		0.493	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			C	141011927	T	C	141011927	2	2	359	1	0	0	0	0	0	0	0	1	166	1712	60	3		3	ACPL2	3	141011927	Silent	SNP	T	TCGA-BP-4775-01A-01D-1366-10	28009583	141011927	57010503	11	20311											
BBS7	55212	hgsc.bcm.edu;ucsc.edu	37	4	122776665	122776665	+	Missense_Mutation	SNP	C	C	T	rs373658912		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr4:122776665C>T	ENST00000264499.4	-	6	763	c.580G>A	c.(580-582)Gca>Aca	p.A194T	BBS7_ENST00000506636.1_Missense_Mutation_p.A194T	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	194					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGTGTAGTGCTAAGACAGTA	0.343									Bardet-Biedl syndrome																																							0								C	THR/ALA,THR/ALA	0,4406		0,0,2203	127	128	128		580,580	5.1	1	4		128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BBS7	NM_018190.3,NM_176824.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	194/673,194/716	122776665	1,13005	2203	4300	6503	SO:0001583	missense	55212	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.580G>A	4.37:g.122776665C>T	ENSP00000264499:p.Ala194Thr		Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215168	0.58452	0.0	1.16E-4	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.81821	-1.54;-1.54	5.08	5.08	0.68730	WD40 repeat-like-containing domain (1);	0.121440	0.56097	D	0.000036	T	0.78892	0.4355	M	0.64997	1.995	0.53005	D	0.99996	B	0.21821	0.061	B	0.23419	0.046	T	0.74309	-0.3707	10	0.22706	T	0.39	-9.14	17.4513	0.87593	0.0:1.0:0.0:0.0	.	194	Q8IWZ6	BBS7_HUMAN	T	194	ENSP00000264499:A194T;ENSP00000423626:A194T	ENSP00000264499:A194T	A	-	1	0	BBS7	122996115	1.000000	0.71417	0.980000	0.43619	0.993000	0.82548	5.240000	0.65378	2.358000	0.79984	0.650000	0.86243	GCA		0.343	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			T	122776665	C	T	122776665	3	4	359	1	0	0	0	0	1	0	0	0	1341	797	28	2	1628	2	BBS7	4	122776665	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10		122776665	68377611	12	20312											
KIAA1430	57587	hgsc.bcm.edu;ucsc.edu	37	4	186096970	186096970	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr4:186096970C>G	ENST00000458385.2	-	3	1409	c.1290G>C	c.(1288-1290)aaG>aaC	p.K430N	KIAA1430_ENST00000296775.6_Missense_Mutation_p.K430N|KIAA1430_ENST00000514798.1_Missense_Mutation_p.K430N|KIAA1430_ENST00000502992.1_5'UTR	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		430										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TTTGTTGTTCCTTCTGTCTGT	0.403																																																0													168	160	163					4																	186096970		1864	4101	5965	SO:0001583	missense	57587																														ENST00000458385.2:c.1290G>C	4.37:g.186096970C>G	ENSP00000409964:p.Lys430Asn		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485922	0.44147	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.51574	0.7;0.7;0.7	5.87	2.3	0.28687	.	0.369735	0.31323	N	0.007844	T	0.50222	0.1603	L	0.55481	1.735	0.30832	N	0.736643	B;D	0.54772	0.449;0.968	B;P	0.52386	0.177;0.697	T	0.53788	-0.8389	10	0.35671	T	0.21	-5.9228	10.4729	0.44648	0.0:0.6748:0.0:0.3252	.	430;430	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	N	430	ENSP00000409964:K430N;ENSP00000423312:K430N;ENSP00000296775:K430N	ENSP00000296775:K430N	K	-	3	2	KIAA1430	186333964	0.770000	0.28543	0.996000	0.52242	0.400000	0.30750	0.098000	0.15189	0.191000	0.20236	-0.150000	0.13652	AAG		0.403	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			G	186096970	C	G	186096970	3	3	359	1	0	0	0	0	1	0	0	0	8234	680	24	4	320	4	KIAA1430	4	186096970	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	63320305	186096970	5057306	13	20313											
ZNF131	7690	hgsc.bcm.edu;ucsc.edu	37	5	43175076	43175076	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr5:43175076C>G	ENST00000399534.1	+	7	1757	c.1713C>G	c.(1711-1713)atC>atG	p.I571M	ZNF131_ENST00000509634.1_Missense_Mutation_p.I537M|ZNF131_ENST00000505606.2_Missense_Mutation_p.I537M|ZNF131_ENST00000509156.1_Missense_Mutation_p.I571M|ZNF131_ENST00000306938.4_Missense_Mutation_p.I537M|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	571					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						CCCCAGAAATCATGAACCAAG	0.488																																																0													82	80	81					5																	43175076		1964	4161	6125	SO:0001583	missense	7690			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1713C>G	5.37:g.43175076C>G	ENSP00000382450:p.Ile571Met		B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37		.	.	.	.	.	.	.	.	.	.	C	6.134	0.392942	0.11638	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.75	3.93	0.45458	.	0.341546	0.25394	N	0.030987	T	0.56426	0.1984	N	0.17082	0.46	0.27412	N	0.95454	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.45071	-0.9286	10	0.30854	T	0.27	-0.0089	9.8249	0.40905	0.0:0.6599:0.2669:0.0732	.	571;537	P52739;P52739-2	ZN131_HUMAN;.	M	571;537;571;537;537	ENSP00000426504:I571M;ENSP00000305804:I537M;ENSP00000382450:I571M;ENSP00000423945:I537M;ENSP00000421246:I537M	ENSP00000305804:I537M	I	+	3	3	ZNF131	43210833	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.933000	0.28897	0.734000	0.32515	0.467000	0.42956	ATC		0.488	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		G	43175076	C	G	43175076	3	3	359	1	0	0	0	0	1	0	0	0	17726	816	29	4	1637	4	ZNF131	5	43175076	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10		43175076	137740184	14	20314											
ITGA1	3672	hgsc.bcm.edu;ucsc.edu	37	5	52206160	52206160	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr5:52206160G>A	ENST00000282588.6	+	14	2226	c.1768G>A	c.(1768-1770)Gtg>Atg	p.V590M		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	590					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TAATGACATCGTGATAGGAGC	0.428																																																0													87	89	88					5																	52206160		2203	4300	6503	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1768G>A	5.37:g.52206160G>A	ENSP00000282588:p.Val590Met		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150063	0.94645	.	.	ENSG00000213949	ENST00000282588	T	0.71579	-0.58	6.02	6.02	0.97574	.	0.062492	0.64402	D	0.000003	D	0.88020	0.6325	M	0.90759	3.145	0.58432	D	0.999994	D	0.89917	1.0	D	0.79784	0.993	D	0.88963	0.3395	10	0.72032	D	0.01	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	590	P56199	ITA1_HUMAN	M	590	ENSP00000282588:V590M	ENSP00000282588:V590M	V	+	1	0	ITGA1	52241917	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	9.367000	0.97148	2.850000	0.98022	0.650000	0.86243	GTG		0.428	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		A	52206160	G	A	52206160	3	1	359	1	0	0	0	0	1	0	0	0	7874	1145	40	1	1822	1	ITGA1	5	52206160	Missense_Mutation	SNP	G	TCGA-BP-4775-01A-01D-1366-10	9031084	52206160	128709100	15	20315											
SNX24	28966	hgsc.bcm.edu;ucsc.edu	37	5	122335673	122335673	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr5:122335673C>T	ENST00000261369.4	+	4	501	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S	SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000506996.1_Missense_Mutation_p.P106S|SNX24_ENST00000395451.4_Missense_Mutation_p.P139S|SNX24_ENST00000513881.1_Missense_Mutation_p.P106S	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	106	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GCGACACTTGCCCTCTCTACC	0.358																																																0													179	185	183					5																	122335673		2203	4300	6503	SO:0001583	missense	28966			AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"Sorting nexins"	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.316C>T	5.37:g.122335673C>T	ENSP00000261369:p.Pro106Ser		Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849953	0.91277	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.17	6.17	0.99709	Phox homologous domain (3);	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.79784	0.941;0.993	T	0.40194	-0.9576	10	0.08599	T	0.76	-17.2694	20.8794	0.99867	0.0:1.0:0.0:0.0	.	106;106	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	S	106;106;139;106	ENSP00000261369:P106S;ENSP00000424149:P106S;ENSP00000378837:P139S;ENSP00000422535:P106S	ENSP00000261369:P106S	P	+	1	0	SNX24	122363572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.455000	0.73497	2.941000	0.99782	0.655000	0.94253	CCC		0.358	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		T	122335673	C	T	122335673	3	4	359	1	0	0	0	0	1	0	0	0	14901	739	26	2	330	2	SNX24	5	122335673	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	70129513	122335673	58579587	16	20316											
BTN1A1	696	hgsc.bcm.edu;ucsc.edu	37	6	26505216	26505216	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr6:26505216G>A	ENST00000244513.6	+	3	557	c.491G>A	c.(490-492)tGc>tAc	p.C164Y		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	164	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGTCTGGAGTGCACCTCAGTG	0.488																																																0													81	78	79					6																	26505216		2203	4300	6503	SO:0001583	missense	696			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.491G>A	6.37:g.26505216G>A	ENSP00000244513:p.Cys164Tyr		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767995	0.69878	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	D	0.99445	-5.91	5.63	5.63	0.86233	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	D	0.99566	0.9844	M	0.88906	2.99	0.46044	D	0.998832	D	0.76494	0.999	D	0.77557	0.99	D	0.98235	1.0485	10	0.87932	D	0	.	15.1654	0.72821	0.0:0.0:1.0:0.0	.	164	Q13410	BT1A1_HUMAN	Y	164	ENSP00000244513:C164Y	ENSP00000244513:C164Y	C	+	2	0	BTN1A1	26613195	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.702000	0.68332	2.652000	0.90054	0.655000	0.94253	TGC		0.488	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		A	26505216	G	A	26505216	3	1	359	1	0	0	0	0	1	0	0	0	1561	1319	46	2	501	2	BTN1A1	6	26505216	Missense_Mutation	SNP	G	TCGA-BP-4775-01A-01D-1366-10		26505216	144609851	17	20317											
TMEM200A	114801	hgsc.bcm.edu;ucsc.edu	37	6	130762739	130762739	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr6:130762739T>C	ENST00000296978.3	+	3	2043	c.1172T>C	c.(1171-1173)cTc>cCc	p.L391P	TMEM200A_ENST00000392429.1_Missense_Mutation_p.L391P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.L391P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	391						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTGCATTTGCTCTCGTCACAC	0.532																																																0													88	83	85					6																	130762739		2203	4300	6503	SO:0001583	missense	114801			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1172T>C	6.37:g.130762739T>C	ENSP00000296978:p.Leu391Pro		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878428	0.72294	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57814	-0.7746	9	0.34782	T	0.22	-17.8631	16.6407	0.85098	0.0:0.0:0.0:1.0	.	391	Q86VY9	T200A_HUMAN	P	391	.	ENSP00000296978:L391P	L	+	2	0	TMEM200A	130804432	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	CTC		0.532	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		C	130762739	T	C	130762739	3	2	359	1	0	0	0	0	1	0	0	0	16128	1551	54	3	1174	3	TMEM200A	6	130762739	Missense_Mutation	SNP	T	TCGA-BP-4775-01A-01D-1366-10	104257523	130762739	40352328	18	20318											
FAM200A	221786	hgsc.bcm.edu;ucsc.edu	37	7	99144481	99144481	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr7:99144481A>G	ENST00000449309.1	-	2	1929	c.1550T>C	c.(1549-1551)tTa>tCa	p.L517S		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	517						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						gaatggtagtaacagcaatat	0.313																																																0													117	119	118					7																	99144481		1551	2679	4230	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 38"	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.1550T>C	7.37:g.99144481A>G	ENSP00000411372:p.Leu517Ser		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.162402	0.38217	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.54279	0.58;0.58	1.68	1.68	0.24146	.	0.317042	0.12785	U	0.439295	T	0.69269	0.3092	M	0.83603	2.65	0.22684	N	0.998856	D	0.89917	1.0	D	0.83275	0.996	T	0.54377	-0.8303	10	0.87932	D	0	.	5.4336	0.16466	1.0:0.0:0.0:0.0	.	517	Q8TCP9	F200A_HUMAN	S	517	ENSP00000411372:L517S;ENSP00000386191:L517S	ENSP00000386191:L517S	L	-	2	0	FAM200A	98982417	0.019000	0.18553	0.886000	0.34754	0.896000	0.52359	1.973000	0.40550	1.020000	0.39573	0.377000	0.23210	TTA		0.313	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111		G	99144481	A	G	99144481	3	3	359	1	0	0	0	0	1	0	0	0	5538	372	13	3	175	3	FAM200A	7	99144481	Missense_Mutation	SNP	A	TCGA-BP-4775-01A-01D-1366-10		99144481	59994182	19	20319											
CRISPLD1	83690	hgsc.bcm.edu	37	8	75924705	75924705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr8:75924705G>A	ENST00000262207.4	+	3	764	c.296G>A	c.(295-297)tGg>tAg	p.W99*	CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000519798.1_3'UTR|CRISPLD1_ENST00000517786.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	99	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAGAATCCTGGGCTGAAAGT	0.443																																																0													161	147	152					8																	75924705		2203	4300	6503	SO:0001587	stop_gained	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.296G>A	8.37:g.75924705G>A	ENSP00000262207:p.Trp99*		B2RA60|B7Z929	Nonsense_Mutation	SNP	ENST00000262207.4	37	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	38	6.661004	0.97743	.	.	ENSG00000121005	ENST00000262207;ENST00000520277	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9586	0.92670	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000262207:W99X	W	+	2	0	CRISPLD1	76087260	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	9.193000	0.94954	2.705000	0.92388	0.557000	0.71058	TGG		0.443	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		A	75924705	G	A	75924705	4	1	359	1	0	0	0	0	0	1	0	0	3884	1357	47	2	302	2	CRISPLD1	8	75924705	Nonsense_Mutation	SNP	G	TCGA-BP-4775-01A-01D-1366-10		75924705	70439317	20	20320											
ADCY8	114	hgsc.bcm.edu;ucsc.edu	37	8	131796014	131796014	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr8:131796014G>T	ENST00000286355.5	-	17	5283	c.3191C>A	c.(3190-3192)gCt>gAt	p.A1064D	ADCY8_ENST00000377928.3_Missense_Mutation_p.A933D	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1064					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGAGAAGTCAGCCAGAGCACA	0.453										HNSCC(32;0.087)																																						0													154	139	144					8																	131796014		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3191C>A	8.37:g.131796014G>T	ENSP00000286355:p.Ala1064Asp			Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419565	0.83559	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.33865	1.39;1.39	5.4	5.4	0.78164	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.050707	0.85682	D	0.000000	T	0.72534	0.3472	H	0.95079	3.62	0.41036	D	0.985192	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.979	T	0.81669	-0.0828	10	0.87932	D	0	.	18.539	0.91020	0.0:0.0:1.0:0.0	.	933;1064	E7EVL1;P40145	.;ADCY8_HUMAN	D	1064;933	ENSP00000286355:A1064D;ENSP00000367161:A933D	ENSP00000286355:A1064D	A	-	2	0	ADCY8	131865196	1.000000	0.71417	0.994000	0.49952	0.645000	0.38454	5.713000	0.68415	2.681000	0.91329	0.655000	0.94253	GCT		0.453	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			T	131796014	G	T	131796014	3	4	359	1	0	0	0	0	1	0	0	0	300	971	34	4	572	4	ADCY8	8	131796014	Missense_Mutation	SNP	G	TCGA-BP-4775-01A-01D-1366-10	55871309	131796014	14568008	21	20321											
GBA2	57704	hgsc.bcm.edu;ucsc.edu	37	9	35748456	35748456	+	Silent	SNP	A	A	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr9:35748456A>T	ENST00000378103.3	-	1	769	c.246T>A	c.(244-246)ccT>ccA	p.P82P	GBA2_ENST00000545786.1_Silent_p.P82P|GBA2_ENST00000378094.4_Silent_p.P82P|RGP1_ENST00000456972.2_5'Flank|RGP1_ENST00000378078.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	82					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCCAAAGGGAGGCACCTGGT	0.512																																																0													106	104	104					9																	35748456		2203	4300	6503	SO:0001819	synonymous_variant	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.246T>A	9.37:g.35748456A>T			D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	CCDS6589.1																																																																																				0.512	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		T	35748456	A	T	35748456	2	4	359	1	0	0	0	0	0	0	0	1	6269	291	11	5		5	GBA2	9	35748456	Silent	SNP	A	TCGA-BP-4775-01A-01D-1366-10		35748456	105464975	22	20322											
NANS	54187	hgsc.bcm.edu	37	9	100845161	100845161	+	Missense_Mutation	SNP	C	C	T	rs143794024		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr9:100845161C>T	ENST00000210444.5	+	6	974	c.904C>T	c.(904-906)Ccg>Tcg	p.P302S	TRIM14_ENST00000478530.1_Intron|TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	302	AFP-like. {ECO:0000255|PROSITE- ProRule:PRU00021}.				lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)	p.P302S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				AGTGAAAATTCCGGAAGGCAC	0.468																																																1	Substitution - Missense(1)	skin(1)											81	71	75					9																	100845161		2203	4300	6503	SO:0001583	missense	54187			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.904C>T	9.37:g.100845161C>T	ENSP00000210444:p.Pro302Ser		B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065687	0.55539	.	.	ENSG00000095380	ENST00000210444	T	0.41758	0.99	5.6	5.6	0.85130	Antifreeze-like/N-acetylneuraminic acid synthase C-terminal (3);SAF domain (2);	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.64404	1.975	0.80722	D	1	B	0.26935	0.164	B	0.25759	0.063	T	0.23547	-1.0185	10	0.33940	T	0.23	-14.7213	17.4913	0.87704	0.0:1.0:0.0:0.0	.	302	Q9NR45	SIAS_HUMAN	S	302	ENSP00000210444:P302S	ENSP00000210444:P302S	P	+	1	0	NANS	99884982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.757000	0.68766	2.822000	0.97130	0.650000	0.86243	CCG		0.468	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		T	100845161	C	T	100845161	3	4	359	1	0	0	0	0	1	0	0	0	10157	855	30	2	926	2	NANS	9	100845161	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	65096705	100845161	40368270	23	20323											
HELLS	3070	hgsc.bcm.edu;ucsc.edu	37	10	96354517	96354517	+	Silent	SNP	T	T	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr10:96354517T>G	ENST00000348459.5	+	19	2259	c.2154T>G	c.(2152-2154)gtT>gtG	p.V718V	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Silent_p.V764V|HELLS_ENST00000394045.1_Silent_p.V620V|HELLS_ENST00000394036.1_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AGCCAGTTGTTGTTTATCGCC	0.363																																																0													119	107	111					10																	96354517		2203	4300	6503	SO:0001819	synonymous_variant	3070			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2154T>G	10.37:g.96354517T>G				Silent	SNP	ENST00000348459.5	37	CCDS7434.1																																																																																				0.363	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		G	96354517	T	G	96354517	2	3	359	1	0	0	0	0	0	0	0	1	7048	1799	63	5		5	HELLS	10	96354517	Silent	SNP	T	TCGA-BP-4775-01A-01D-1366-10		96354517	39180230	24	20324											
NLRP14	338323	hgsc.bcm.edu	37	11	7064163	7064163	+	Silent	SNP	C	C	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr11:7064163C>G	ENST00000299481.4	+	4	1252	c.906C>G	c.(904-906)tcC>tcG	p.S302S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	302	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGAGGCATCCTTATTGGTGA	0.453																																																0													77	74	75					11																	7064163		2201	4296	6497	SO:0001819	synonymous_variant	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.906C>G	11.37:g.7064163C>G			Q7RTR6	Silent	SNP	ENST00000299481.4	37	CCDS7776.1																																																																																				0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		G	7064163	C	G	7064163	2	3	359	1	0	0	0	0	0	0	0	1	10478	668	24	4		4	NLRP14	11	7064163	Silent	SNP	C	TCGA-BP-4775-01A-01D-1366-10		7064163	127942353	25	20325											
OR4D10	390197	hgsc.bcm.edu	37	11	59244948	59244948	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr11:59244948G>A	ENST00000530162.1	+	1	103	c.46G>A	c.(46-48)Ggc>Agc	p.G16S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATTTTCCTTGGCCTGACCCA	0.413																																																0													79	79	79					11																	59244948		1951	4141	6092	SO:0001583	missense	390197			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.46G>A	11.37:g.59244948G>A	ENSP00000436424:p.Gly16Ser		B2RNH6	Silent	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415898	0.62511	.	.	ENSG00000254466	ENST00000530162	T	0.00653	5.96	4.2	3.28	0.37604	.	.	.	.	.	T	0.03095	0.0091	M	0.91663	3.23	0.09310	N	1	P	0.50369	0.934	P	0.53224	0.721	T	0.12041	-1.0563	9	0.87932	D	0	.	10.9817	0.47499	0.0953:0.0:0.9047:0.0	.	16	Q8NGI6	OR4DA_HUMAN	S	16	ENSP00000436424:G16S	ENSP00000436424:G16S	G	+	1	0	OR4D10	59001524	1.000000	0.71417	0.023000	0.16930	0.004000	0.04260	5.340000	0.65958	0.858000	0.35431	0.655000	0.94253	GGC		0.413	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		A	59244948	G	A	59244948	3	1	359	1	0	0	0	0	1	0	0	0	11056	1348	47	2	48	2	OR4D10	11	59244948	Missense_Mutation	SNP	G	TCGA-BP-4775-01A-01D-1366-10	52180785	59244948	75761568	26	20326											
HSPB2	3316	hgsc.bcm.edu	37	11	111784450	111784450	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr11:111784450T>A	ENST00000304298.3	+	2	968	c.380T>A	c.(379-381)gTc>gAc	p.V127D	CRYAB_ENST00000533475.1_5'UTR|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533280.1_5'Flank|CRYAB_ENST00000526180.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.V127D|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000533971.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000531198.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	127					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CCTGCTGATGTCGACCCCTGG	0.622																																																0													75	69	71					11																	111784450		2201	4297	6498	SO:0001583	missense	3316			U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"Heat shock proteins / HSPB"	5247	protein-coding gene	gene with protein product		602179	"heat shock 27kD protein 2"			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.380T>A	11.37:g.111784450T>A	ENSP00000302476:p.Val127Asp		Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	37	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852417	0.71719	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.94138	-3.36;-3.36	5.22	5.22	0.72569	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.64402	D	0.000001	D	0.96914	0.8992	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.97548	1.0090	10	0.66056	D	0.02	-21.9874	15.3944	0.74781	0.0:0.0:0.0:1.0	.	127	Q16082	HSPB2_HUMAN	D	127	ENSP00000302476:V127D;ENSP00000445585:V127D	ENSP00000302476:V127D	V	+	2	0	HSPB2	111289660	1.000000	0.71417	0.089000	0.20774	0.873000	0.50193	4.709000	0.61867	2.107000	0.64212	0.528000	0.53228	GTC		0.622	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			A	111784450	T	A	111784450	3	1	359	1	0	0	0	0	1	0	0	0	7422	1667	58	5	386	5	HSPB2	11	111784450	Missense_Mutation	SNP	T	TCGA-BP-4775-01A-01D-1366-10	52539502	111784450	23222066	27	20327											
FAM55A	120400	hgsc.bcm.edu;ucsc.edu	37	11	114401131	114401131	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr11:114401131T>A	ENST00000424269.1	-	2	598	c.599A>T	c.(598-600)tAt>tTt	p.Y200F	NXPE1_ENST00000251921.2_Missense_Mutation_p.Y58F|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000536312.1_Missense_Mutation_p.Y200F			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	200						extracellular region (GO:0005576)											AATTTTATCATAGCCTTGGTT	0.488																																																0													90	91	91					11																	114401131		2201	4296	6497	SO:0001583	missense	0			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.599A>T	11.37:g.114401131T>A	ENSP00000411690:p.Tyr200Phe		B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37		.	.	.	.	.	.	.	.	.	.	T	12.98	2.100610	0.37048	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.44881	2.57;2.78;0.91	4.52	3.38	0.38709	.	0.120055	0.36268	N	0.002692	T	0.44244	0.1284	M	0.81239	2.535	0.21802	N	0.999535	B	0.30104	0.268	B	0.37888	0.26	T	0.36792	-0.9733	10	0.10377	T	0.69	.	8.7374	0.34537	0.0:0.0946:0.0:0.9054	.	200	F5H6W7	.	F	58;200;200	ENSP00000251921:Y58F;ENSP00000411690:Y200F;ENSP00000442984:Y200F	ENSP00000251921:Y58F	Y	-	2	0	FAM55A	113906341	0.026000	0.19158	0.407000	0.26434	0.937000	0.57800	2.236000	0.43052	0.827000	0.34685	0.533000	0.62120	TAT		0.488	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		A	114401131	T	A	114401131	3	1	359	1	0	0	0	0	1	0	0	0	5586	1406	49	5	1060	5	FAM55A	11	114401131	Missense_Mutation	SNP	T	TCGA-BP-4775-01A-01D-1366-10	2616681	114401131	20605385	28	20328											
NCAPD3	23310	hgsc.bcm.edu;ucsc.edu	37	11	134046230	134046230	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr11:134046230G>C	ENST00000534548.2	-	24	3137	c.3073C>G	c.(3073-3075)Ctg>Gtg	p.L1025V	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1025					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GAATCGATCAGAGTGCTGACA	0.458																																																0													115	110	112					11																	134046230		2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3073C>G	11.37:g.134046230G>C	ENSP00000433681:p.Leu1025Val		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036835	0.35893	.	.	ENSG00000151503	ENST00000534548;ENST00000530396	T;T	0.73363	-0.74;-0.74	6.04	0.784	0.18578	Armadillo-like helical (1);Armadillo-type fold (1);	0.068604	0.64402	N	0.000013	T	0.68924	0.3054	M	0.66939	2.045	0.80722	D	1	B	0.23854	0.092	B	0.30029	0.11	T	0.60821	-0.7187	10	0.52906	T	0.07	-6.0811	7.126	0.25471	0.2211:0.3221:0.4568:0.0	.	1025	P42695	CNDD3_HUMAN	V	1025;61	ENSP00000433681:L1025V;ENSP00000435173:L61V	ENSP00000435173:L61V	L	-	1	2	NCAPD3	133551440	0.262000	0.24073	0.049000	0.19019	0.918000	0.54935	0.625000	0.24477	-0.084000	0.12595	-1.252000	0.01501	CTG		0.458	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		C	134046230	G	C	134046230	3	2	359	1	0	0	0	0	1	0	0	0	10208	933	33	4	1471	4	NCAPD3	11	134046230	Missense_Mutation	SNP	G	TCGA-BP-4775-01A-01D-1366-10	19645099	134046230	960286	29	20329											
ACCN2	41	hgsc.bcm.edu;ucsc.edu	37	12	50472709	50472709	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr12:50472709G>T	ENST00000447966.2	+	7	1226	c.997G>T	c.(997-999)Gat>Tat	p.D333Y	ASIC1_ENST00000228468.4_Missense_Mutation_p.D333Y|ASIC1_ENST00000552438.1_Missense_Mutation_p.D367Y	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	333					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CTCTGTAGGGGATGCCCCATA	0.552																																																0													215	212	213					12																	50472709		2203	4300	6503	SO:0001583	missense	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.997G>T	12.37:g.50472709G>T	ENSP00000400228:p.Asp333Tyr		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230485	0.79688	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	T;T;T	0.66460	-0.21;-0.21;-0.21	3.63	3.63	0.41609	.	0.061015	0.64402	D	0.000008	T	0.81936	0.4928	M	0.87682	2.9	0.80722	D	1	P;D	0.57571	0.932;0.98	P;P	0.61592	0.857;0.891	D	0.86517	0.1813	10	0.87932	D	0	-24.006	16.1952	0.82023	0.0:0.0:1.0:0.0	.	333;333	P78348;P78348-1	ACCN2_HUMAN;.	Y	333;333;367	ENSP00000228468:D333Y;ENSP00000400228:D333Y;ENSP00000450247:D367Y	ENSP00000228468:D333Y	D	+	1	0	ACCN2	48758976	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.264000	0.51553	2.331000	0.79229	0.462000	0.41574	GAT		0.552	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		T	50472709	G	T	50472709	3	4	359	1	0	0	0	0	1	0	0	0	129	1174	41	4	1019	4	ACCN2	12	50472709	Missense_Mutation	SNP	G	TCGA-BP-4775-01A-01D-1366-10		50472709	83379186	30	20330											
KRT80	144501	hgsc.bcm.edu	37	12	52565297	52565297	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr12:52565297C>A	ENST00000394815.2	-	9	1341	c.1244G>T	c.(1243-1245)aGa>aTa	p.R415I	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	415	Tail.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GAGGCCTGATCTGGAGGCAGC	0.547																																					GBM(178;2309 2916 15678 35873)											0													42	45	44					12																	52565297		2203	4300	6503	SO:0001583	missense	144501			BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1244G>T	12.37:g.52565297C>A	ENSP00000378292:p.Arg415Ile		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	c	13.09	2.133130	0.37630	.	.	ENSG00000167767	ENST00000394815	D	0.84070	-1.8	4.47	3.37	0.38596	.	0.189387	0.25738	N	0.028629	T	0.59865	0.2225	N	0.08118	0	0.36057	D	0.841201	B;P	0.43094	0.072;0.799	B;B	0.38755	0.032;0.281	T	0.60198	-0.7310	10	0.22706	T	0.39	.	3.4445	0.07476	0.0:0.1316:0.2371:0.6313	.	415;450	Q6KB66;Q6KB66-3	K2C80_HUMAN;.	I	415	ENSP00000378292:R415I	ENSP00000378292:R415I	R	-	2	0	KRT80	50851564	0.039000	0.19947	0.899000	0.35326	0.993000	0.82548	-0.056000	0.11787	0.934000	0.37316	0.651000	0.88453	AGA		0.547	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		A	52565297	C	A	52565297	3	1	359	1	0	0	0	0	1	0	0	0	8496	913	32	4	118	4	KRT80	12	52565297	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	2092588	52565297	81286598	31	20331											
KIAA0748	9840	hgsc.bcm.edu;ucsc.edu	37	12	55356980	55356980	+	Silent	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr12:55356980G>A	ENST00000449076.1	-	9	834	c.702C>T	c.(700-702)ttC>ttT	p.F234F	TESPA1_ENST00000524622.1_Silent_p.F96F|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000531122.1_Silent_p.F96F|TESPA1_ENST00000532804.1_Silent_p.F96F|TESPA1_ENST00000316577.8_Silent_p.F234F	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	234					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											AGAGACAGAAGAAGGCATCAG	0.458																																																0													75	79	78					12																	55356980		2012	4189	6201	SO:0001819	synonymous_variant	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.702C>T	12.37:g.55356980G>A			B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	CCDS44913.1																																																																																				0.458	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		A	55356980	G	A	55356980	2	1	359	1	0	0	0	0	0	0	0	1	8192	933	33	2		2	KIAA0748	12	55356980	Silent	SNP	G	TCGA-BP-4775-01A-01D-1366-10	2791683	55356980	78494915	32	20332											
DCN	1634	hgsc.bcm.edu;ucsc.edu	37	12	91572254	91572254	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr12:91572254C>A	ENST00000052754.5	-	2	577	c.76G>T	c.(76-78)Gac>Tac	p.D26Y	DCN_ENST00000425043.1_Missense_Mutation_p.D26Y|DCN_ENST00000393155.1_Missense_Mutation_p.D26Y|DCN_ENST00000441303.2_Missense_Mutation_p.D26Y|DCN_ENST00000546370.1_Missense_Mutation_p.D26Y|DCN_ENST00000420120.2_Missense_Mutation_p.D26Y|DCN_ENST00000228329.5_Missense_Mutation_p.D26Y|DCN_ENST00000551354.1_Missense_Mutation_p.D26Y|DCN_ENST00000550099.1_Missense_Mutation_p.D26Y|DCN_ENST00000547568.2_Missense_Mutation_p.D26Y|DCN_ENST00000548768.1_5'Flank|DCN_ENST00000552962.1_Missense_Mutation_p.D26Y|DCN_ENST00000546745.1_Missense_Mutation_p.D26Y|DCN_ENST00000303320.3_Missense_Mutation_p.D26Y|DCN_ENST00000456569.2_Missense_Mutation_p.D26Y	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	26					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGCATAAAGTCAAATAAGCCT	0.502											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													95	97	96					12																	91572254		2203	4300	6503	SO:0001583	missense	1634			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.76G>T	12.37:g.91572254C>A	ENSP00000052754:p.Asp26Tyr	1283	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150485	0.94645	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568;ENST00000546391;ENST00000456569;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513;ENST00000546370;ENST00000546745;ENST00000550099;ENST00000551354	T;D;T;T;T;T;D;T;T;T;T;T;T;T	0.86865	0.3;-2.18;-1.44;0.3;-0.15;0.3;-2.18;-1.44;-0.15;-0.25;-0.01;-0.09;-0.0;-0.98	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	M	0.81497	2.545	0.43798	D	0.996347	P;D;D;D;D	0.89917	0.79;1.0;1.0;1.0;1.0	B;D;D;D;D	0.91635	0.387;0.983;0.998;0.999;0.999	D	0.94044	0.7312	10	0.87932	D	0	.	20.2956	0.98549	0.0:1.0:0.0:0.0	.	26;26;26;26;26	P07585;P07585-5;P07585-4;P07585-3;P07585-2	PGS2_HUMAN;.;.;.;.	Y	26	ENSP00000052754:D26Y;ENSP00000228329:D26Y;ENSP00000302031:D26Y;ENSP00000376862:D26Y;ENSP00000401021:D26Y;ENSP00000447654:D26Y;ENSP00000413723:D26Y;ENSP00000399815:D26Y;ENSP00000447674:D26Y;ENSP00000446530:D26Y;ENSP00000449782:D26Y;ENSP00000447886:D26Y;ENSP00000449014:D26Y;ENSP00000449438:D26Y	ENSP00000052754:D26Y	D	-	1	0	DCN	90096385	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.261000	0.78400	2.805000	0.96524	0.460000	0.39030	GAC		0.502	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		A	91572254	C	A	91572254	3	1	359	1	0	0	0	0	1	0	0	0	4299	826	29	4	1031	4	DCN	12	91572254	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	36215274	91572254	42279641	33	20333											
EP400	57634	hgsc.bcm.edu	37	12	132471271	132471271	+	Silent	SNP	C	C	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr12:132471271C>A	ENST00000333577.4	+	7	2359	c.2250C>A	c.(2248-2250)ccC>ccA	p.P750P	EP400_ENST00000330386.6_Silent_p.P714P|EP400_ENST00000389561.2_Silent_p.P714P|EP400_ENST00000332482.4_Silent_p.P677P|EP400_ENST00000389562.2_Silent_p.P713P			Q96L91	EP400_HUMAN	E1A binding protein p400	750					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CATCTGCCCCCACCAAACCAC	0.532																																																0													119	120	120					12																	132471271		2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2250C>A	12.37:g.132471271C>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.532	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132471271	C	A	132471271	2	1	359	1	0	0	0	0	0	0	0	1	5151	581	21	4		4	EP400	12	132471271	Silent	SNP	C	TCGA-BP-4775-01A-01D-1366-10	40899017	132471271	1380624	34	20334											
N6AMT2	221143	hgsc.bcm.edu;ucsc.edu	37	13	21306082	21306082	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr13:21306082C>T	ENST00000382758.1	-	4	453	c.406G>A	c.(406-408)Gac>Aac	p.D136N	N6AMT2_ENST00000382754.4_Missense_Mutation_p.D136N			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	136						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATTACGATGTCAAAACTATGT	0.413																																																0													132	125	127					13																	21306082		2203	4300	6503	SO:0001583	missense	221143			AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.406G>A	13.37:g.21306082C>T	ENSP00000372206:p.Asp136Asn		B5G4V1	Missense_Mutation	SNP	ENST00000382758.1	37	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997038	0.74818	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.34472	1.36;1.36	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	M	0.91038	3.17	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.75602	-0.3261	10	0.72032	D	0.01	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	136	Q8WVE0	N6MT2_HUMAN	N	136	ENSP00000372206:D136N;ENSP00000372202:D136N	ENSP00000372202:D136N	D	-	1	0	N6AMT2	20204082	1.000000	0.71417	0.881000	0.34555	0.039000	0.13416	7.425000	0.80255	2.832000	0.97577	0.655000	0.94253	GAC		0.413	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		T	21306082	C	T	21306082	3	4	359	1	0	0	0	0	1	0	0	0	10117	826	29	2	246	2	N6AMT2	13	21306082	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10		21306082	93863796	35	20335											
NIPA1	123606	hgsc.bcm.edu;ucsc.edu	37	15	23049093	23049095	+	In_Frame_Del	DEL	GAT	GAT	-	rs143840469		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	GAT	GAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:23049093_23049095delGAT	ENST00000337435.4	-	5	748_750	c.724_726delATC	c.(724-726)atcdel	p.I242del	NIPA1_ENST00000437912.2_In_Frame_Del_p.I167del|NIPA1_ENST00000538684.1_In_Frame_Del_p.I72del|NIPA1_ENST00000561183.1_In_Frame_Del_p.I167del	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	242					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TGAACTGGACGATGATGCTGCAG	0.601																																																0																																										SO:0001651	inframe_deletion	123606			BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"spastic paraplegia 6 (autosomal dominant)"	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.724_726delATC	15.37:g.23049096_23049098delGAT	ENSP00000337452:p.Ile242del		B2RA76|Q5HYA9|Q7KZB0|Q86XW4	In_Frame_Del	DEL	ENST00000337435.4	37	CCDS10011.1																																																																																				0.601	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		-	23049095	GAT	-	23049093	7	5	359	1	0	1	0	1	0	0	0	0	10424	1048	37	0	267	0	NIPA1	15	23049093	In_Frame_Del	DEL	GAT	TCGA-BP-4775-01A-01D-1366-10		23049093	79482299	36	20336											
TRPM1	4308	hgsc.bcm.edu	37	15	31295002	31295002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:31295002C>A	ENST00000256552.6	-	28	4048	c.3901G>T	c.(3901-3903)Gga>Tga	p.G1301*	TRPM1_ENST00000542188.1_Nonsense_Mutation_p.G1318*|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.G1279*	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.G1279R(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AACTCTTCTCCGTTAAAATGA	0.463																																																1	Substitution - Missense(1)	pancreas(1)											77	74	75					15																	31295002		1974	4168	6142	SO:0001587	stop_gained	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3901G>T	15.37:g.31295002C>A	ENSP00000256552:p.Gly1301*			Nonsense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	42	9.335439	0.99140	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.96	4.04	0.47022	.	0.365546	0.28641	N	0.014638	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-17.9917	9.5414	0.39255	0.0:0.8404:0.0:0.1596	.	.	.	.	X	1279;1318;1301;1279	.	ENSP00000256552:G1301X	G	-	1	0	TRPM1	29082294	0.343000	0.24818	0.083000	0.20561	0.984000	0.73092	2.619000	0.46401	1.087000	0.41251	0.650000	0.86243	GGA		0.463	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		A	31295002	C	A	31295002	4	1	359	1	0	0	0	0	0	1	0	0	16590	661	23	4	980	4	TRPM1	15	31295002	Nonsense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	8245909	31295002	71236390	37	20337											
ELL3	80237	hgsc.bcm.edu;ucsc.edu	37	15	44067734	44067734	+	Silent	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:44067734C>T	ENST00000319359.3	-	5	1199	c.558G>A	c.(556-558)caG>caA	p.Q186Q	ELL3_ENST00000497465.1_5'Flank|SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	186					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TCACTTCCCACTGTGCCATGT	0.498											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													150	132	138					15																	44067734		2198	4298	6496	SO:0001819	synonymous_variant	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.558G>A	15.37:g.44067734C>T		921	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Silent	SNP	ENST00000319359.3	37	CCDS10102.1																																																																																				0.498	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165		T	44067734	C	T	44067734	2	4	359	1	0	0	0	0	0	0	0	1	5066	564	20	2		2	ELL3	15	44067734	Silent	SNP	C	TCGA-BP-4775-01A-01D-1366-10	12772732	44067734	58463658	38	20338											
STRA6	64220	hgsc.bcm.edu;ucsc.edu	37	15	74483211	74483211	+	Silent	SNP	T	T	C			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:74483211T>C	ENST00000323940.5	-	11	1142	c.897A>G	c.(895-897)tcA>tcG	p.S299S	STRA6_ENST00000423167.2_Silent_p.S290S|STRA6_ENST00000574278.1_Silent_p.S314S|STRA6_ENST00000395105.4_Silent_p.S299S|STRA6_ENST00000535552.1_Silent_p.S336S|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Silent_p.S338S|STRA6_ENST00000449139.2_Silent_p.S299S|STRA6_ENST00000416286.3_Silent_p.S291S	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	299					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TCAGTGTAGCTGAAAGCACCA	0.587																																																0													106	86	93					15																	74483211		2198	4297	6495	SO:0001819	synonymous_variant	64220			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"retinol binding protein 4 receptor"	610745	"stimulated by retinoic acid gene 6 homolog (mouse)", "stimulated by retinoic acid 6 homolog (mouse)"			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.897A>G	15.37:g.74483211T>C			A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Silent	SNP	ENST00000323940.5	37	CCDS10261.1																																																																																				0.587	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			C	74483211	T	C	74483211	2	2	359	1	0	0	0	0	0	0	0	1	15327	1567	55	3		3	STRA6	15	74483211	Silent	SNP	T	TCGA-BP-4775-01A-01D-1366-10	30415477	74483211	28048181	39	20339											
PDE8A	5151	hgsc.bcm.edu;ucsc.edu	37	15	85643406	85643406	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:85643406G>A	ENST00000310298.4	+	12	1265	c.1013G>A	c.(1012-1014)tGt>tAt	p.C338Y	PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.C338Y|PDE8A_ENST00000557957.1_Missense_Mutation_p.C266Y|PDE8A_ENST00000339708.5_Missense_Mutation_p.C292Y			O60658	PDE8A_HUMAN	phosphodiesterase 8A	338					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ATATCCGAATGTGTTCAGTCT	0.413																																																0													66	70	68					15																	85643406		2203	4299	6502	SO:0001583	missense	5151			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1013G>A	15.37:g.85643406G>A	ENSP00000311453:p.Cys338Tyr		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	9.355	1.066544	0.20067	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.69306	-0.39;-0.39;-0.39	4.53	1.49	0.22878	.	1.363460	0.04694	N	0.414726	T	0.50171	0.1600	L	0.44542	1.39	0.27527	N	0.951211	B;P	0.38642	0.159;0.641	B;B	0.34779	0.189;0.135	T	0.34428	-0.9829	10	0.02654	T	1	.	4.0676	0.09868	0.0914:0.16:0.5834:0.1652	.	292;338	O60658-2;O60658	.;PDE8A_HUMAN	Y	338;338;292	ENSP00000311453:C338Y;ENSP00000378056:C338Y;ENSP00000340679:C292Y	ENSP00000311453:C338Y	C	+	2	0	PDE8A	83444410	1.000000	0.71417	0.888000	0.34837	0.883000	0.51084	2.439000	0.44846	0.121000	0.18284	0.511000	0.50034	TGT		0.413	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		A	85643406	G	A	85643406	3	1	359	1	0	0	0	0	1	0	0	0	11655	1377	48	2	1055	2	PDE8A	15	85643406	Missense_Mutation	SNP	G	TCGA-BP-4775-01A-01D-1366-10	11160195	85643406	16887986	40	20340											
SEMA4B	10509	hgsc.bcm.edu;ucsc.edu	37	15	90768609	90768609	+	Silent	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:90768609C>T	ENST00000411539.2	+	11	1761	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L	SEMA4B_ENST00000379122.3_Silent_p.L496L|SEMA4B_ENST00000332496.6_Silent_p.L501L	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	496	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CGTGCAGAATCTGCTCCTGGA	0.637																																																0													29	35	33					15																	90768609		1986	4116	6102	SO:0001819	synonymous_variant	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1501C>T	15.37:g.90768609C>T			Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Silent	SNP	ENST00000411539.2	37	CCDS45347.1																																																																																				0.637	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		T	90768609	C	T	90768609	2	4	359	1	0	0	0	0	0	0	0	1	14038	912	32	2		2	SEMA4B	15	90768609	Silent	SNP	C	TCGA-BP-4775-01A-01D-1366-10	5125203	90768609	11762783	41	20341											
CTCF	10664	hgsc.bcm.edu;ucsc.edu	37	16	67644949	67644949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr16:67644949C>T	ENST00000264010.4	+	3	658	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	72					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q72*(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CACCCTTCTTCAGATGAAGAC	0.512																																					Colon(175;1200 1966 6945 23069 27405)											1	Substitution - Nonsense(1)	endometrium(1)											96	93	94					16																	67644949		2198	4300	6498	SO:0001587	stop_gained	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.214C>T	16.37:g.67644949C>T	ENSP00000264010:p.Gln72*		B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	ENST00000264010.4	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	37	6.330849	0.97480	.	.	ENSG00000102974	ENST00000264010	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-3.1266	18.8924	0.92410	0.0:1.0:0.0:0.0	.	.	.	.	X	72	.	ENSP00000264010:Q72X	Q	+	1	0	CTCF	66202450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.696000	0.92011	0.655000	0.94253	CAG		0.512	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		T	67644949	C	T	67644949	4	4	359	1	0	0	0	0	0	1	0	0	4002	827	29	2	216	2	CTCF	16	67644949	Nonsense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10		67644949	22709804	42	20342											
PITPNM3	83394	hgsc.bcm.edu	37	17	6381331	6381331	+	Silent	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr17:6381331G>A	ENST00000262483.8	-	8	951	c.864C>T	c.(862-864)gcC>gcT	p.A288A	PITPNM3_ENST00000421306.3_Silent_p.A252A	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	288	Ser-rich.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGCTGCTGCTGGCAGGGCTGT	0.682																																																0													59	67	65					17																	6381331		2203	4300	6503	SO:0001819	synonymous_variant	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.864C>T	17.37:g.6381331G>A			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	CCDS11076.1																																																																																				0.682	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		A	6381331	G	A	6381331	2	1	359	1	0	0	0	0	0	0	0	1	11954	1335	47	2		2	PITPNM3	17	6381331	Silent	SNP	G	TCGA-BP-4775-01A-01D-1366-10		6381331	74813879	43	20343											
CNTROB	116840	hgsc.bcm.edu;ucsc.edu	37	17	7839782	7839782	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr17:7839782G>T	ENST00000563694.1	+	5	1618	c.693G>T	c.(691-693)atG>atT	p.M231I	CNTROB_ENST00000380255.3_Missense_Mutation_p.M231I|CNTROB_ENST00000380262.3_Missense_Mutation_p.M231I|CNTROB_ENST00000565740.1_Missense_Mutation_p.M231I	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	231					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AAGATACCATGATTGAACAAC	0.483																																																0													96	96	96					17																	7839782		2203	4300	6503	SO:0001583	missense	116840			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.693G>T	17.37:g.7839782G>T	ENSP00000456335:p.Met231Ile		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371197	0.82573	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.75154	-0.91;0.63	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	L	0.27053	0.805	0.42732	D	0.993719	P;D;D	0.61080	0.954;0.989;0.989	D;D;D	0.72982	0.943;0.979;0.979	T	0.78917	-0.2015	10	0.41790	T	0.15	-20.7617	18.6417	0.91398	0.0:0.0:1.0:0.0	.	231;231;231	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	I	231	ENSP00000369614:M231I;ENSP00000369605:M231I	ENSP00000369605:M231I	M	+	3	0	CNTROB	7780507	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.602000	0.74141	2.775000	0.95449	0.655000	0.94253	ATG		0.483	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		T	7839782	G	T	7839782	3	4	359	1	0	0	0	0	1	0	0	0	3653	1290	45	4	711	4	CNTROB	17	7839782	Missense_Mutation	SNP	G	TCGA-BP-4775-01A-01D-1366-10	1458451	7839782	73355428	44	20344											
GGNBP2	79893	hgsc.bcm.edu;ucsc.edu	37	17	34945653	34945653	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr17:34945653A>G	ENST00000304718.4	+	14	2222	c.1906A>G	c.(1906-1908)Act>Gct	p.T636A	DHRS11_ENST00000590554.1_5'Flank|DHRS11_ENST00000251312.5_5'Flank	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	636					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTCTGAATGTACTTCAGATGA	0.348																																																0													115	130	125					17																	34945653		2203	4300	6503	SO:0001583	missense	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1906A>G	17.37:g.34945653A>G	ENSP00000307617:p.Thr636Ala		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.404336	0.25378	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.69	5.69	0.88448	.	0.187565	0.45867	D	0.000334	T	0.41534	0.1163	N	0.19112	0.55	0.80722	D	1	B	0.24368	0.102	B	0.24541	0.054	T	0.31475	-0.9942	9	0.30854	T	0.27	-3.0996	11.0927	0.48125	0.8619:0.0:0.0:0.138	.	636	Q9H3C7	GGNB2_HUMAN	A	636	.	ENSP00000307617:T636A	T	+	1	0	GGNBP2	32019766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.442000	0.52900	2.173000	0.68751	0.454000	0.30748	ACT		0.348	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		G	34945653	A	G	34945653	3	3	359	1	0	0	0	0	1	0	0	0	6361	391	14	3	1956	3	GGNBP2	17	34945653	Missense_Mutation	SNP	A	TCGA-BP-4775-01A-01D-1366-10	27105871	34945653	46249557	45	20345											
SLC16A3	9123	hgsc.bcm.edu	37	17	80195666	80195666	+	Missense_Mutation	SNP	C	C	A	rs373465497		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr17:80195666C>A	ENST00000581287.1	+	3	3342	c.1020C>A	c.(1018-1020)ttC>ttA	p.F340L	SLC16A3_ENST00000392341.1_Missense_Mutation_p.F340L|SLC16A3_ENST00000582743.1_Missense_Mutation_p.F340L|SLC16A3_ENST00000392339.1_Missense_Mutation_p.F340L	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	340					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.F340L(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	CCCTGCAGTTCGAGGTGCTCA	0.662																																					Pancreas(52;652 1135 19190 37282 52456)											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											40	31	34					17																	80195666		2199	4297	6496	SO:0001583	missense	9123			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.1020C>A	17.37:g.80195666C>A	ENSP00000463978:p.Phe340Leu		B3KXG8|Q2M1P8	Missense_Mutation	SNP	ENST00000581287.1	37	CCDS11804.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840535	0.91197	.	.	ENSG00000141526	ENST00000392341;ENST00000392339	T;T	0.72282	-0.64;-0.64	5.95	-7.61	0.01299	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.094443	0.85682	D	0.000000	T	0.79516	0.4459	M	0.85630	2.765	0.52099	D	0.999947	P;D	0.76494	0.621;0.999	B;D	0.91635	0.367;0.999	D	0.85488	0.1183	10	0.10902	T	0.67	.	16.6055	0.84827	0.0:0.2349:0.0:0.7651	.	340;340	Q53G91;O15427	.;MOT4_HUMAN	L	340	ENSP00000376152:F340L;ENSP00000376150:F340L	ENSP00000376150:F340L	F	+	3	2	SLC16A3	77788955	0.886000	0.30341	0.774000	0.31636	0.994000	0.84299	-0.034000	0.12225	-1.397000	0.02068	-0.251000	0.11542	TTC		0.662	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207		A	80195666	C	A	80195666	3	1	359	1	0	0	0	0	1	0	0	0	14415	883	31	4	1030	4	SLC16A3	17	80195666	Missense_Mutation	SNP	C	TCGA-BP-4775-01A-01D-1366-10	45250013	80195666	999544	46	20346											
ZNF227	7770	hgsc.bcm.edu	37	19	44739196	44739196	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr19:44739196G>A	ENST00000313040.7	+	6	818	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ZNF227_ENST00000391961.2_Missense_Mutation_p.E154K|ZNF227_ENST00000589005.1_Missense_Mutation_p.E154K	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GCAAATACATGAAGACTTCAT	0.373																																																0													60	59	60					19																	44739196		2203	4300	6503	SO:0001583	missense	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.613G>A	19.37:g.44739196G>A	ENSP00000321049:p.Glu205Lys		B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	0.638	-0.814435	0.02798	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	T;T	0.08282	3.25;3.11	4.27	1.91	0.25777	.	.	.	.	.	T	0.02119	0.0066	N	0.00707	-1.245	0.09310	N	1	B;B;B;B	0.26744	0.158;0.158;0.158;0.158	B;B;B;B	0.25614	0.038;0.062;0.062;0.028	T	0.37979	-0.9682	9	0.02654	T	1	.	10.7457	0.46179	0.0:0.0:0.6625:0.3375	.	126;184;157;205	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	K	205;162;154;184	ENSP00000321049:E205K;ENSP00000375823:E154K	ENSP00000321049:E205K	E	+	1	0	ZNF227	49431036	0.000000	0.05858	0.006000	0.13384	0.042000	0.13812	0.345000	0.19979	1.117000	0.41842	0.563000	0.77884	GAA		0.373	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		A	44739196	G	A	44739196	3	1	359	1	0	0	0	0	1	0	0	0	17786	1291	45	2	627	2	ZNF227	19	44739196	Missense_Mutation	SNP	G	TCGA-BP-4775-01A-01D-1366-10		44739196	14389787	47	20347											
ATF5	22809	hgsc.bcm.edu	37	19	50435817	50435817	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr19:50435817A>T	ENST00000423777.2	+	3	694	c.317A>T	c.(316-318)aAg>aTg	p.K106M	ATF5_ENST00000595125.1_Missense_Mutation_p.K106M|CTC-326K19.6_ENST00000451973.1_Intron|NUP62_ENST00000352066.3_5'Flank|MIR4751_ENST00000578027.1_RNA|NUP62_ENST00000422090.2_5'Flank	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	106					multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	TCCCTCCTCAAGAAGGAGCTG	0.647																																					GBM(48;768 989 9196 9511 26329)											0													18	16	17					19																	50435817		2199	4280	6479	SO:0001583	missense	22809			AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.317A>T	19.37:g.50435817A>T	ENSP00000396954:p.Lys106Met		B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.327566	0.60743	.	.	ENSG00000169136	ENST00000423777	T	0.51325	0.71	3.73	2.69	0.31865	.	0.069083	0.56097	D	0.000026	T	0.38026	0.1025	L	0.46157	1.445	0.42217	D	0.991834	P	0.50617	0.937	B	0.42422	0.387	T	0.13415	-1.0510	10	0.44086	T	0.13	-12.92	7.4952	0.27485	0.8073:0.0:0.0:0.1927	.	106	Q9Y2D1	ATF5_HUMAN	M	106	ENSP00000396954:K106M	ENSP00000396954:K106M	K	+	2	0	ATF5	55127629	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.936000	0.70153	0.477000	0.27464	0.368000	0.22195	AAG		0.647	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			T	50435817	A	T	50435817	3	4	359	1	0	0	0	0	1	0	0	0	1083	72	3	5	323	5	ATF5	19	50435817	Missense_Mutation	SNP	A	TCGA-BP-4775-01A-01D-1366-10	5696621	50435817	8693166	48	20348											
PCNT	5116	hgsc.bcm.edu;ucsc.edu	37	21	47832897	47832897	+	Silent	SNP	C	C	T	rs144445891		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr21:47832897C>T	ENST00000359568.5	+	29	6248	c.6141C>T	c.(6139-6141)gaC>gaT	p.D2047D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2047					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCTGGAGGACGGCGGCAAGG	0.657																																																0								C		3,4403	6.2+/-15.9	0,3,2200	45	45	45		6141	-3	0	21	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	PCNT	NM_006031.5		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		2047/3337	47832897	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6141C>T	21.37:g.47832897C>T			O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																				0.657	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		T	47832897	C	T	47832897	2	4	359	1	0	0	0	0	0	0	0	1	11592	535	19	1		1	PCNT	21	47832897	Silent	SNP	C	TCGA-BP-4775-01A-01D-1366-10		47832897	296998	49	20349											
IL6R	3570	hgsc.bcm.edu;ucsc.edu	37	1	154401718	154401718	+	Silent	SNP	T	T	A			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr1:154401718T>A	ENST00000368485.3	+	2	569	c.132T>A	c.(130-132)acT>acA	p.T44T	IL6R_ENST00000344086.4_Silent_p.T44T	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	44	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	ACAGCGTGACTCTGACCTGCC	0.637																																																0													79	77	78					1																	154401718		2203	4300	6503	SO:0001819	synonymous_variant	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.132T>A	1.37:g.154401718T>A			A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Silent	SNP	ENST00000368485.3	37	CCDS1067.1																																																																																				0.637	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		A	154401718	T	A	154401718	2	1	360	1	0	0	0	0	0	0	0	1	7704	1538	54	5		5	IL6R	1	154401718	Silent	SNP	T	TCGA-BP-4777-01A-01D-1366-10		154401718	94848903	1	20350											
STAT1	6772	hgsc.bcm.edu;ucsc.edu	37	2	191849113	191849113	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr2:191849113G>C	ENST00000361099.3	-	16	1657	c.1270C>G	c.(1270-1272)Ctc>Gtc	p.L424V	STAT1_ENST00000392322.3_Missense_Mutation_p.L424V|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.L424V|STAT1_ENST00000392323.2_Missense_Mutation_p.L426V	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	424					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GTAACGATGAGAGGACCCTTG	0.408																																																0													60	65	63					2																	191849113		2203	4300	6503	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1270C>G	2.37:g.191849113G>C	ENSP00000354394:p.Leu424Val		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507665	0.64410	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.15	4.27	0.50696	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.063289	0.64402	D	0.000004	T	0.81432	0.4821	M	0.67625	2.065	0.80722	D	1	P;B	0.44734	0.842;0.088	P;B	0.49665	0.618;0.193	T	0.83156	-0.0101	10	0.62326	D	0.03	-4.9585	13.7209	0.62725	0.0746:0.0:0.9254:0.0	.	424;424	P42224-2;P42224	.;STAT1_HUMAN	V	424;424;424;426	ENSP00000354394:L424V;ENSP00000386244:L424V;ENSP00000376136:L424V;ENSP00000376137:L426V	ENSP00000354394:L424V	L	-	1	0	STAT1	191557358	1.000000	0.71417	0.962000	0.40283	0.784000	0.44337	6.401000	0.73256	1.310000	0.45006	0.561000	0.74099	CTC		0.408	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		C	191849113	G	C	191849113	3	2	360	1	0	0	0	0	1	0	0	0	15269	942	33	4	1026	4	STAT1	2	191849113	Missense_Mutation	SNP	G	TCGA-BP-4777-01A-01D-1366-10		191849113	51350260	2	20351											
COX18	285521	hgsc.bcm.edu;ucsc.edu	37	4	73927583	73927583	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr4:73927583A>T	ENST00000295890.4	-	5	866	c.775T>A	c.(775-777)Ttt>Att	p.F259I	COX18_ENST00000507544.2_Missense_Mutation_p.F260I	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	259					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCACGGACAAAGTACGTAATA	0.393																																																0													110	92	98					4																	73927583		2203	4300	6503	SO:0001583	missense	285521			AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"Mitochondrial respiratory chain complex assembly factors"	26801	protein-coding gene	gene with protein product		610428	"COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)", "cytochrome c oxidase assembly homolog 18 (yeast)"			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.775T>A	4.37:g.73927583A>T	ENSP00000295890:p.Phe259Ile		Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Missense_Mutation	SNP	ENST00000295890.4	37	CCDS3554.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868828	0.32977	.	.	ENSG00000163626	ENST00000295890;ENST00000507544	.	.	.	5.22	5.22	0.72569	.	0.141076	0.64402	D	0.000004	T	0.56775	0.2008	L	0.52364	1.645	0.47994	D	0.999562	B;B	0.16166	0.016;0.003	B;B	0.28709	0.093;0.026	T	0.52056	-0.8626	9	0.13108	T	0.6	-20.0584	14.3915	0.66983	1.0:0.0:0.0:0.0	.	260;259	B7ZL88;Q8N8Q8	.;COX18_HUMAN	I	259;260	.	ENSP00000295890:F259I	F	-	1	0	COX18	74146447	1.000000	0.71417	0.949000	0.38748	0.027000	0.11550	3.972000	0.56838	2.103000	0.63969	0.455000	0.32223	TTT		0.393	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252169.2	NM_173827		T	73927583	A	T	73927583	3	4	360	1	0	0	0	0	1	0	0	0	3769	72	3	5	234	5	COX18	4	73927583	Missense_Mutation	SNP	A	TCGA-BP-4777-01A-01D-1366-10		73927583	117226693	3	20352											
MAP1B	4131	hgsc.bcm.edu;ucsc.edu	37	5	71493194	71493194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr5:71493194C>T	ENST00000296755.7	+	5	4310	c.4012C>T	c.(4012-4014)Caa>Taa	p.Q1338*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1338					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCTTACTATCAATCTCCTAC	0.458																																					Melanoma(17;367 822 11631 31730 47712)											0													68	66	67					5																	71493194		2203	4300	6503	SO:0001587	stop_gained	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4012C>T	5.37:g.71493194C>T	ENSP00000296755:p.Gln1338*		A2BDK5	Nonsense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	45	11.330628	0.99547	.	.	ENSG00000131711	ENST00000296755	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.3218	19.877	0.96880	0.0:1.0:0.0:0.0	.	.	.	.	X	1338	.	ENSP00000296755:Q1338X	Q	+	1	0	MAP1B	71528950	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.487000	0.81328	2.709000	0.92574	0.561000	0.74099	CAA		0.458	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		T	71493194	C	T	71493194	4	4	360	1	0	0	0	0	0	1	0	0	9230	827	29	2	4030	2	MAP1B	5	71493194	Nonsense_Mutation	SNP	C	TCGA-BP-4777-01A-01D-1366-10		71493194	109422066	4	20353											
SLC27A6	28965	hgsc.bcm.edu;ucsc.edu	37	5	128368807	128368807	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr5:128368807G>A	ENST00000262462.4	+	10	2702	c.1692G>A	c.(1690-1692)atG>atA	p.M564I	SLC27A6_ENST00000506176.1_Missense_Mutation_p.M564I|SLC27A6_ENST00000395266.1_Missense_Mutation_p.M564I			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	564					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGAAAAAATGGAAGCAACAG	0.289																																																0													48	47	47					5																	128368807		2203	4294	6497	SO:0001583	missense	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1692G>A	5.37:g.128368807G>A	ENSP00000262462:p.Met564Ile		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	5.344	0.248711	0.10130	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.54279	0.58;0.58;0.58	3.85	3.85	0.44370	.	0.155066	0.56097	D	0.000028	T	0.33352	0.0860	N	0.11106	0.095	0.40102	D	0.976383	B	0.17038	0.02	B	0.17722	0.019	T	0.13361	-1.0512	9	.	.	.	-5.0952	16.6631	0.85246	0.0:0.0:1.0:0.0	.	564	Q9Y2P4	S27A6_HUMAN	I	564	ENSP00000262462:M564I;ENSP00000378684:M564I;ENSP00000421024:M564I	.	M	+	3	0	SLC27A6	128396706	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	5.659000	0.68010	2.451000	0.82905	0.585000	0.79938	ATG		0.289	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		A	128368807	G	A	128368807	3	1	360	1	0	0	0	0	1	0	0	0	14536	1348	47	2	1730	2	SLC27A6	5	128368807	Missense_Mutation	SNP	G	TCGA-BP-4777-01A-01D-1366-10	56875613	128368807	52546453	5	20354											
C6orf27	80737	hgsc.bcm.edu;ucsc.edu	37	6	31743892	31743892	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr6:31743892C>G	ENST00000375688.4	-	3	562	c.362G>C	c.(361-363)aGg>aCg	p.R121T	Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000467576.1_Intron|VWA7_ENST00000375686.3_Missense_Mutation_p.R121T|VWA7_ENST00000447450.1_Missense_Mutation_p.R121T			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	121						extracellular region (GO:0005576)											GGGGTCATTCCTGGAAGTTGG	0.632																																																0													106	99	101					6																	31743892		2203	4300	6503	SO:0001583	missense	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.362G>C	6.37:g.31743892C>G	ENSP00000364840:p.Arg121Thr		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627151	0.28978	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.12984	2.63;2.63;2.63	5.32	-8.73	0.00841	.	0.481167	0.21028	N	0.081392	T	0.04497	0.0123	L	0.39898	1.24	0.09310	N	1	B	0.34290	0.447	B	0.35114	0.196	T	0.01639	-1.1306	10	0.45353	T	0.12	-3.2507	19.9896	0.97361	0.0:0.783:0.0:0.217	.	121	Q9Y334	G7C_HUMAN	T	121	ENSP00000364840:R121T;ENSP00000364838:R121T;ENSP00000390554:R121T	ENSP00000364838:R121T	R	-	2	0	C6orf27	31851871	0.000000	0.05858	0.006000	0.13384	0.020000	0.10135	-1.474000	0.02337	-1.327000	0.02264	-0.438000	0.05819	AGG		0.632	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		G	31743892	C	G	31743892	3	3	360	1	0	0	0	0	1	0	0	0	2364	681	24	4	2372	4	C6orf27	6	31743892	Missense_Mutation	SNP	C	TCGA-BP-4777-01A-01D-1366-10		31743892	139371175	6	20355											
PHKG1	5260	hgsc.bcm.edu	37	7	56155438	56155438	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr7:56155438G>A	ENST00000297373.2	-	3	309	c.115C>T	c.(115-117)Cac>Tac	p.H39Y	PHKG1_ENST00000452681.2_Missense_Mutation_p.H39Y|PHKG1_ENST00000489604.1_5'UTR|PHKG1_ENST00000537360.1_Missense_Mutation_p.P3L	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	39	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGGGCTTGTGGATGCATCGC	0.662																																					Melanoma(184;580 2064 5329 24177 35303)											0													62	50	54					7																	56155438		2203	4300	6503	SO:0001583	missense	5260			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.115C>T	7.37:g.56155438G>A	ENSP00000297373:p.His39Tyr		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	CCDS5525.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.40|15.40	2.822613|2.822613	0.50739|0.50739	.|.	.|.	ENSG00000164776|ENSG00000164776	ENST00000452681;ENST00000297373|ENST00000537360	T;T|T	0.66995|0.68624	-0.24;-0.24|-0.34	5.42|5.42	4.52|4.52	0.55395|0.55395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.251525|.	0.35067|.	N|.	0.003461|.	T|T	0.63534|0.63534	0.2519|0.2519	M|M	0.69248|0.69248	2.105|2.105	0.31085|0.31085	N|N	0.711465|0.711465	B;B;B|B	0.21381|0.02656	0.055;0.016;0.027|0.0	B;B;B|B	0.25140|0.04013	0.058;0.012;0.057|0.001	T|T	0.65274|0.65274	-0.6208|-0.6208	10|9	0.87932|0.87932	D|D	0|0	-54.168|-54.168	9.4005|9.4005	0.38428|0.38428	0.158:0.0:0.842:0.0|0.158:0.0:0.842:0.0	.|.	39;39;39|3	B7Z6U2;F5H2S1;Q16816|B7Z5U3	.;.;PHKG1_HUMAN|.	Y|L	39|3	ENSP00000445440:H39Y;ENSP00000297373:H39Y|ENSP00000441528:P3L	ENSP00000297373:H39Y|ENSP00000441528:P3L	H|P	-|-	1|2	0|0	PHKG1|PHKG1	56122932|56122932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.746000|2.746000	0.47467|0.47467	2.712000|2.712000	0.92718|0.92718	0.563000|0.563000	0.77884|0.77884	CAC|CCA		0.662	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		A	56155438	G	A	56155438	3	1	360	1	0	0	0	0	1	0	0	0	11848	1348	47	2	1080	2	PHKG1	7	56155438	Missense_Mutation	SNP	G	TCGA-BP-4777-01A-01D-1366-10		56155438	102983225	7	20356											
PTCH1	5727	hgsc.bcm.edu	37	9	98240434	98240434	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr9:98240434T>G	ENST00000331920.6	-	9	1549	c.1250A>C	c.(1249-1251)cAa>cCa	p.Q417P	PTCH1_ENST00000437951.1_Missense_Mutation_p.Q351P|PTCH1_ENST00000430669.2_Missense_Mutation_p.Q351P|PTCH1_ENST00000418258.1_Missense_Mutation_p.Q266P|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000421141.1_Missense_Mutation_p.Q266P|PTCH1_ENST00000429896.2_Missense_Mutation_p.Q266P|PTCH1_ENST00000375274.2_Missense_Mutation_p.Q416P	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	417					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.Q417fs*29(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCACCTTTTGAGTGGAGTT	0.517																																																1	Insertion - Frameshift(1)	skin(1)											232	183	200					9																	98240434		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1250A>C	9.37:g.98240434T>G	ENSP00000332353:p.Gln417Pro		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.825068	0.90955	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.7	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92987	0.7768	L	0.47190	1.495	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.997;0.997	D;P;D;D	0.69479	0.96;0.888;0.964;0.953	D	0.92249	0.5807	10	0.36615	T	0.2	-20.1995	15.8498	0.78921	0.0:0.0:0.0:1.0	.	266;351;416;417	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	P	417;351;266;266;351;266;416;134	ENSP00000332353:Q417P;ENSP00000389744:Q351P;ENSP00000399981:Q266P;ENSP00000396135:Q266P;ENSP00000410287:Q351P;ENSP00000414823:Q266P;ENSP00000364423:Q416P;ENSP00000364420:Q134P	ENSP00000332353:Q417P	Q	-	2	0	PTCH1	97280255	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.157000	0.67596	0.533000	0.62120	CAA		0.517	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		G	98240434	T	G	98240434	3	3	360	1	0	0	0	0	1	0	0	0	12735	1812	63	5	3153	5	PTCH1	9	98240434	Missense_Mutation	SNP	T	TCGA-BP-4777-01A-01D-1366-10		98240434	42972997	8	20357											
A2BP1	54715	hgsc.bcm.edu;ucsc.edu	37	16	7726799	7726799	+	Nonsense_Mutation	SNP	C	C	G	rs182244522	byFrequency	TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr16:7726799C>G	ENST00000550418.1	+	14	1942	c.954C>G	c.(952-954)taC>taG	p.Y318*	RBFOX1_ENST00000553186.1_Nonsense_Mutation_p.Y291*|RBFOX1_ENST00000340209.4_Nonsense_Mutation_p.Y323*|RBFOX1_ENST00000535565.2_Nonsense_Mutation_p.Y275*|RBFOX1_ENST00000547338.1_Nonsense_Mutation_p.Y318*|RBFOX1_ENST00000422070.4_Nonsense_Mutation_p.Y361*|RBFOX1_ENST00000311745.5_Nonsense_Mutation_p.Y339*|RBFOX1_ENST00000355637.4_Nonsense_Mutation_p.Y339*|RBFOX1_ENST00000547372.1_Nonsense_Mutation_p.Y361*|RBFOX1_ENST00000552089.1_Nonsense_Mutation_p.Y335*|RBFOX1_ENST00000436368.2_Nonsense_Mutation_p.Y339*	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	318					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CATACCGCTACGCCCAGCCTA	0.517																																					Ovarian(157;934 2567 15163 39509)											0													193	133	153					16																	7726799		2197	4300	6497	SO:0001587	stop_gained	0			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.954C>G	16.37:g.7726799C>G	ENSP00000450031:p.Tyr318*		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Nonsense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	46	12.680426	0.99687	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	.	.	.	5.43	0.61	0.17580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1439	6.958	0.24582	0.0:0.4022:0.0:0.5978	.	.	.	.	X	318;291;361;361;275;335;318;339;339;339;312;323	.	ENSP00000309117:Y339X	Y	+	3	2	RBFOX1	7666800	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.223000	0.17719	0.335000	0.23614	0.650000	0.86243	TAC		0.517	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		G	7726799	C	G	7726799	4	3	360	1	0	0	0	0	0	1	0	0	3	547	19	4	1134	4	A2BP1	16	7726799	Nonsense_Mutation	SNP	C	TCGA-BP-4777-01A-01D-1366-10		7726799	82627954	9	20358											
KIAA1609	57707	hgsc.bcm.edu	37	16	84523001	84523001	+	Missense_Mutation	SNP	C	C	T	rs531177116		TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr16:84523001C>T	ENST00000343629.6	-	4	594	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_Missense_Mutation_p.V111M	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	138						lysosomal membrane (GO:0005765)		p.V138L(1)									AGCACGTGCACCACAGAGCCA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19088	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)											56	52	53					16																	84523001		2200	4300	6500	SO:0001583	missense	57707			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.412G>A	16.37:g.84523001C>T	ENSP00000343635:p.Val138Met		Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249594	0.59212	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.15834	2.39;2.39	5.04	4.06	0.47325	.	0.399254	0.27522	N	0.018990	T	0.33323	0.0859	M	0.74258	2.255	0.09310	N	0.999997	D;P	0.69078	0.997;0.722	D;B	0.63192	0.912;0.231	T	0.11941	-1.0567	10	0.41790	T	0.15	-5.9212	6.4774	0.22043	0.0:0.6849:0.1552:0.1599	.	111;138	F5GWS3;Q6P9B6	.;K1609_HUMAN	M	138;111	ENSP00000343635:V138M;ENSP00000441997:V111M	ENSP00000343635:V138M	V	-	1	0	KIAA1609	83080502	0.008000	0.16893	0.101000	0.21167	0.991000	0.79684	1.505000	0.35736	1.069000	0.40788	0.591000	0.81541	GTG		0.542	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		T	84523001	C	T	84523001	3	4	360	1	0	0	0	0	1	0	0	0	8249	507	18	2	978	2	KIAA1609	16	84523001	Missense_Mutation	SNP	C	TCGA-BP-4777-01A-01D-1366-10	76796202	84523001	5831752	10	20359											
AFG3L2	10939	hgsc.bcm.edu;ucsc.edu	37	18	12337401	12337401	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr18:12337401A>G	ENST00000269143.3	-	16	2345	c.2114T>C	c.(2113-2115)aTt>aCt	p.I705T		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	705					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCATCATTAATAAGTATTCG	0.413																																																0													127	121	123					18																	12337401		2203	4300	6503	SO:0001583	missense	10939			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.2114T>C	18.37:g.12337401A>G	ENSP00000269143:p.Ile705Thr		Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347579	0.82022	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.84660	-1.88	5.62	5.62	0.85841	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.090429	0.64402	D	0.000001	D	0.93006	0.7774	M	0.86953	2.85	0.80722	D	1	D	0.64830	0.994	D	0.71184	0.972	D	0.93981	0.7258	10	0.66056	D	0.02	-8.4566	15.8226	0.78667	1.0:0.0:0.0:0.0	.	705	Q9Y4W6	AFG32_HUMAN	T	705;720	ENSP00000269143:I705T	ENSP00000269143:I705T	I	-	2	0	AFG3L2	12327401	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	8.871000	0.92346	2.146000	0.66826	0.533000	0.62120	ATT		0.413	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		G	12337401	A	G	12337401	3	3	360	1	0	0	0	0	1	0	0	0	360	101	4	3	287	3	AFG3L2	18	12337401	Missense_Mutation	SNP	A	TCGA-BP-4777-01A-01D-1366-10		12337401	65739847	11	20360											
RYR1	6261	hgsc.bcm.edu;ucsc.edu	37	19	39002238	39002238	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chr19:39002238G>A	ENST00000359596.3	+	61	9160	c.9160G>A	c.(9160-9162)Gtc>Atc	p.V3054I	RYR1_ENST00000360985.3_Missense_Mutation_p.V3054I|RYR1_ENST00000355481.4_Missense_Mutation_p.V3054I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3054					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCGCCACCGAGTCTCTCTCTT	0.522																																																0													164	147	152					19																	39002238		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9160G>A	19.37:g.39002238G>A	ENSP00000352608:p.Val3054Ile		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050388	0.36181	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.66460	-0.21;-0.21;-0.21	4.55	4.55	0.56014	.	0.000000	0.64402	U	0.000014	T	0.34774	0.0909	N	0.02011	-0.69	0.37575	D	0.919573	B;B	0.24258	0.1;0.06	B;B	0.17098	0.017;0.008	T	0.42050	-0.9474	10	0.07482	T	0.82	.	12.3662	0.55230	0.0841:0.0:0.9158:0.0	.	3054;3054	P21817-2;P21817	.;RYR1_HUMAN	I	3054	ENSP00000352608:V3054I;ENSP00000347667:V3054I;ENSP00000354254:V3054I	ENSP00000347667:V3054I	V	+	1	0	RYR1	43694078	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	1.764000	0.38471	2.536000	0.85505	0.491000	0.48974	GTC		0.522	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	39002238	G	A	39002238	3	1	360	1	0	0	0	0	1	0	0	0	13774	1029	36	2	9402	2	RYR1	19	39002238	Missense_Mutation	SNP	G	TCGA-BP-4777-01A-01D-1366-10		39002238	20126745	12	20361											
COL4A6	1288	hgsc.bcm.edu;ucsc.edu	37	X	107420105	107420105	+	Silent	SNP	C	C	T			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chrX:107420105C>T	ENST00000372216.4	-	28	2755	c.2655G>A	c.(2653-2655)ggG>ggA	p.G885G	COL4A6_ENST00000394872.2_Silent_p.G885G|COL4A6_ENST00000545689.1_Silent_p.G884G|COL4A6_ENST00000538570.1_Silent_p.G884G|COL4A6_ENST00000334504.7_Silent_p.G884G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	885	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACCCAGCGACCCCTGGAGAGC	0.547									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											0													121	123	123					X																	107420105		2203	4300	6503	SO:0001819	synonymous_variant	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2655G>A	X.37:g.107420105C>T			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	CCDS14541.1																																																																																				0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			T	107420105	C	T	107420105	2	4	360	1	0	0	0	0	0	0	0	1	3697	610	22	2		2	COL4A6	23	107420105	Silent	SNP	C	TCGA-BP-4777-01A-01D-1366-10		107420105	47850455	13	20362											
ATP11C	286410	hgsc.bcm.edu;ucsc.edu	37	X	138840003	138840003	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4777-01A-01D-1366-10	TCGA-BP-4777-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	dccd4d15-8a3a-49f1-b6f9-236ae5262be3	74aadb21-b60b-438f-8eb6-6f163f77d21d	g.chrX:138840003C>G	ENST00000327569.3	-	23	2771	c.2673G>C	c.(2671-2673)caG>caC	p.Q891H	ATP11C_ENST00000359686.2_Missense_Mutation_p.Q891H|ATP11C_ENST00000361648.2_Missense_Mutation_p.Q891H|ATP11C_ENST00000370557.1_Missense_Mutation_p.Q885H|ATP11C_ENST00000370543.1_Missense_Mutation_p.Q891H|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	891					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GGTACAAAAACTGTGGCAAAA	0.284																																																0													28	26	27					X																	138840003		2203	4291	6494	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2673G>C	X.37:g.138840003C>G	ENSP00000332756:p.Gln891His		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377919	0.61735	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.66	-2.48	0.06423	.	0.000000	0.85682	D	0.000000	D	0.91486	0.7312	M	0.65677	2.01	0.45662	D	0.998587	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.88000	0.2755	10	0.27082	T	0.32	.	13.2742	0.60178	0.0:0.427:0.0:0.573	.	891;891;891	Q8NB49-3;Q8NB49;Q8NB49-2	.;AT11C_HUMAN;.	H	885;891;891;891;891	ENSP00000359588:Q885H;ENSP00000355165:Q891H;ENSP00000332756:Q891H;ENSP00000359574:Q891H;ENSP00000352715:Q891H	ENSP00000332756:Q891H	Q	-	3	2	ATP11C	138667669	0.052000	0.20516	0.984000	0.44739	0.985000	0.73830	-0.602000	0.05680	-0.461000	0.06993	-0.268000	0.10319	CAG		0.284	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		G	138840003	C	G	138840003	3	3	360	1	0	0	0	0	1	0	0	0	1121	564	20	4	820	4	ATP11C	23	138840003	Missense_Mutation	SNP	C	TCGA-BP-4777-01A-01D-1366-10	31419898	138840003	16430557	14	20363											
TUFT1	7286	hgsc.bcm.edu;ucsc.edu	37	1	151512886	151512886	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr1:151512886C>T	ENST00000368849.3	+	1	106	c.44C>T	c.(43-45)cCa>cTa	p.P15L	RP11-74C1.4_ENST00000434112.1_RNA|TUFT1_ENST00000538902.1_5'UTR|TUFT1_ENST00000353024.3_Missense_Mutation_p.P15L|TUFT1_ENST00000368848.2_Missense_Mutation_p.P15L|TUFT1_ENST00000392712.3_Missense_Mutation_p.P15L	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	15					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GACGTGCACCCAGAGGACCAG	0.627																																																0													161	146	151					1																	151512886		2203	4300	6503	SO:0001583	missense	7286			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.44C>T	1.37:g.151512886C>T	ENSP00000357842:p.Pro15Leu		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749723	0.89753	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000544350;ENST00000507671	T;T;T;T	0.51071	2.29;0.83;0.75;0.72	4.96	4.96	0.65561	.	0.391289	0.27349	N	0.019775	T	0.44561	0.1299	L	0.53249	1.67	0.80722	D	1	D;B	0.55172	0.97;0.207	P;B	0.51657	0.676;0.11	T	0.45760	-0.9239	10	0.59425	D	0.04	-12.3587	13.5748	0.61868	0.0:1.0:0.0:0.0	.	15;15	Q9NNX1-2;Q9NNX1	.;TUFT1_HUMAN	L	15	ENSP00000357842:P15L;ENSP00000376476:P15L;ENSP00000343781:P15L;ENSP00000357841:P15L	ENSP00000343781:P15L	P	+	2	0	TUFT1	149779510	0.979000	0.34478	1.000000	0.80357	0.978000	0.69477	3.347000	0.52200	2.564000	0.86499	0.561000	0.74099	CCA		0.627	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		T	151512886	C	T	151512886	3	4	361	1	0	0	0	0	1	0	0	0	16777	594	21	2	46	2	TUFT1	1	151512886	Missense_Mutation	SNP	C	TCGA-BP-4781-01A-01D-1373-10		151512886	97737735	1	20364											
F5	2153	hgsc.bcm.edu	37	1	169510701	169510701	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr1:169510701G>T	ENST00000367797.3	-	13	3828	c.3627C>A	c.(3625-3627)agC>agA	p.S1209R	F5_ENST00000367796.3_Missense_Mutation_p.S1214R	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1209	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GAGTCGTGTGGCTGAGGTCTG	0.542																																																0													200	216	210					1																	169510701		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3627C>A	1.37:g.169510701G>T	ENSP00000356771:p.Ser1209Arg		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	6.138	0.393686	0.11638	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.34859	1.34;1.34	4.25	-4.02	0.04034	.	1.353180	0.05384	U	0.537751	T	0.08044	0.0201	L	0.34521	1.04	0.19575	N	0.999961	B	0.06786	0.001	B	0.04013	0.001	T	0.23583	-1.0184	9	0.16896	T	0.51	0.0881	7.1427	0.25564	0.5713:0.1263:0.3024:0.0	.	1209	P12259	FA5_HUMAN	R	1209;1214	ENSP00000356771:S1209R;ENSP00000356770:S1214R	ENSP00000356770:S1214R	S	-	3	2	F5	167777325	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.699000	0.01906	-0.782000	0.04541	-0.308000	0.09152	AGC		0.542	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		T	169510701	G	T	169510701	3	4	361	1	0	0	0	0	1	0	0	0	5350	1194	42	4	3099	4	F5	1	169510701	Missense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10	17997815	169510701	79739920	2	20365											
LRP1B	53353	hgsc.bcm.edu	37	2	141259355	141259355	+	Silent	SNP	G	G	A	rs148504930		TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr2:141259355G>A	ENST00000389484.3	-	55	9722	c.8751C>T	c.(8749-8751)ggC>ggT	p.G2917G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2917	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G2917G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGAACCATCGCCACAGTCAT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - coding silent(1)	prostate(1)						G		0,4406		0,0,2203	104	103	103		8751	-9	0.8	2	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2917/4600	141259355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8751C>T	2.37:g.141259355G>A			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141259355	G	A	141259355	2	1	361	1	0	0	0	0	0	0	0	1	8957	1074	38	1		1	LRP1B	2	141259355	Silent	SNP	G	TCGA-BP-4781-01A-01D-1373-10		141259355	101940018	3	20366											
SLC4A10	57282	hgsc.bcm.edu;ucsc.edu	37	2	162821636	162821636	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr2:162821636T>G	ENST00000446997.1	+	23	3205	c.3112T>G	c.(3112-3114)Ttg>Gtg	p.L1038V	SLC4A10_ENST00000375514.5_Missense_Mutation_p.L1019V|SLC4A10_ENST00000421911.1_Missense_Mutation_p.L1038V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.L1008V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.L1008V	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1038					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GTTGGATGATTTGATGCCCGA	0.343																																																0													84	79	80					2																	162821636		1817	4088	5905	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3112T>G	2.37:g.162821636T>G	ENSP00000393066:p.Leu1038Val		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557109	0.27827	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.93	4.78	0.61160	.	0.000000	0.64402	D	0.000002	T	0.67373	0.2886	L	0.46741	1.465	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.796	D;D;B	0.91635	0.999;0.999;0.415	T	0.65668	-0.6112	10	0.02654	T	1	.	11.8185	0.52224	0.0:0.0681:0.0:0.9319	.	1019;1008;1038	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	V	1019;1008;1008;1007;1038;1038;1037	ENSP00000364664:L1019V;ENSP00000395797:L1008V;ENSP00000272716:L1008V;ENSP00000393066:L1038V;ENSP00000404486:L1038V	ENSP00000272716:L1008V	L	+	1	2	SLC4A10	162529882	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.747000	0.47475	1.066000	0.40716	0.533000	0.62120	TTG		0.343	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		G	162821636	T	G	162821636	3	3	361	1	0	0	0	0	1	0	0	0	14657	1838	64	5	3287	5	SLC4A10	2	162821636	Missense_Mutation	SNP	T	TCGA-BP-4781-01A-01D-1373-10	21562281	162821636	80377737	4	20367											
C2orf77	129881	hgsc.bcm.edu;ucsc.edu	37	2	170505754	170505754	+	Nonsense_Mutation	SNP	C	C	A	rs138449065	byFrequency	TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr2:170505754C>A	ENST00000447353.1	-	8	1360	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	419																	CATTTTTTCTCCTTTTCATGT	0.328																																																0													137	123	128					2																	170505754		1825	4093	5918	SO:0001587	stop_gained	0			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1255G>T	2.37:g.170505754C>A	ENSP00000391504:p.Glu419*		Q6PJF6	Nonsense_Mutation	SNP	ENST00000447353.1	37	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619337	0.96649	.	.	ENSG00000154479	ENST00000447353	.	.	.	5.28	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	12.7011	0.57034	0.0:0.9184:0.0:0.0816	.	.	.	.	X	419	.	ENSP00000391504:E419X	E	-	1	0	C2orf77	170214000	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.305000	0.43664	1.217000	0.43442	0.467000	0.42956	GAG		0.328	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		A	170505754	C	A	170505754	4	1	361	1	0	0	0	0	0	1	0	0	2196	864	30	4	411	4	C2orf77	2	170505754	Nonsense_Mutation	SNP	C	TCGA-BP-4781-01A-01D-1373-10	7684118	170505754	72693619	5	20368											
IL17RC	84818	hgsc.bcm.edu	37	3	9960273	9960273	+	Missense_Mutation	SNP	G	G	C	rs112627391	byFrequency	TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr3:9960273G>C	ENST00000295981.3	+	5	876	c.658G>C	c.(658-660)Gtg>Ctg	p.V220L	IL17RC_ENST00000383812.4_Missense_Mutation_p.V149L|IL17RC_ENST00000416074.2_Missense_Mutation_p.V20L|IL17RC_ENST00000455057.1_Missense_Mutation_p.V149L|IL17RC_ENST00000413608.1_Missense_Mutation_p.V149L|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.V149L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	220					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGCTGCCCTTGTGCAGTTTGG	0.483													G|||	9	0.00179712	0.0068	0.0	5008	,	,		20094	0.0		0.0	False		,,,				2504	0.0															0								G	LEU/VAL,LEU/VAL,LEU/VAL,LEU/VAL,LEU/VAL,LEU/VAL	12,4394	19.1+/-41.9	0,12,2191	80	76	77		445,445,445,445,445,658	3.3	1	3	dbSNP_132	77	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	32,32,32,32,32,32	0,12,6491	CC,CG,GG		0.0,0.2724,0.0923	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	149/708,149/691,149/689,149/706,149/721,220/792	9960273	12,12994	2203	4300	6503	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.658G>C	3.37:g.9960273G>C	ENSP00000295981:p.Val220Leu		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	9.792	1.178194	0.21787	0.002724	0.0	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.12	3.32	0.38043	.	0.286793	0.24960	N	0.034237	T	0.06280	0.0162	L	0.56769	1.78	0.22412	N	0.999123	B;B;B;B;B;B;B;B;B	0.24258	0.022;0.015;0.013;0.013;0.1;0.1;0.022;0.039;0.02	B;B;B;B;B;B;B;B;B	0.19391	0.025;0.009;0.011;0.011;0.017;0.017;0.025;0.008;0.023	T	0.14172	-1.0482	10	0.39692	T	0.17	-13.2673	7.1724	0.25726	0.1991:0.0:0.8009:0.0	.	149;20;149;149;149;149;149;220;149	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	L	149;124;220;124;149;20;149;149	ENSP00000373323:V149L;ENSP00000414609:V124L;ENSP00000295981:V220L;ENSP00000401128:V124L;ENSP00000384969:V149L;ENSP00000395315:V20L;ENSP00000407894:V149L;ENSP00000396064:V149L	ENSP00000295981:V220L	V	+	1	0	IL17RC	9935273	0.000000	0.05858	0.956000	0.39512	0.899000	0.52679	0.470000	0.22084	1.164000	0.42652	-0.263000	0.10527	GTG		0.483	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		C	9960273	G	C	9960273	3	2	361	1	0	0	0	0	1	0	0	0	7643	1377	48	4	676	4	IL17RC	3	9960273	Missense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10		9960273	188062157	6	20369											
KCNH8	131096	hgsc.bcm.edu;ucsc.edu	37	3	19492864	19492864	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr3:19492864T>A	ENST00000328405.2	+	10	2059	c.1793T>A	c.(1792-1794)gTt>gAt	p.V598D	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	598					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCCATGGAAGTTCTTAAAGAC	0.448																																					NSCLC(124;1625 1765 8018 24930 42026)											0													81	82	82					3																	19492864		2203	4300	6503	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1793T>A	3.37:g.19492864T>A	ENSP00000328813:p.Val598Asp		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932920	0.92458	.	.	ENSG00000183960	ENST00000328405	D	0.94862	-3.54	5.49	5.49	0.81192	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.28946	U	0.013627	D	0.98182	0.9399	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99620	1.0983	9	.	.	.	.	15.6034	0.76642	0.0:0.0:0.0:1.0	.	598	Q96L42	KCNH8_HUMAN	D	598	ENSP00000328813:V598D	.	V	+	2	0	KCNH8	19467868	1.000000	0.71417	0.940000	0.37924	0.980000	0.70556	8.040000	0.89188	2.096000	0.63516	0.383000	0.25322	GTT		0.448	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		A	19492864	T	A	19492864	3	1	361	1	0	0	0	0	1	0	0	0	8040	1725	60	5	1831	5	KCNH8	3	19492864	Missense_Mutation	SNP	T	TCGA-BP-4781-01A-01D-1373-10	9532591	19492864	178529566	7	20370											
PDS5A	23244	hgsc.bcm.edu;ucsc.edu	37	4	39905679	39905679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr4:39905679G>A	ENST00000303538.8	-	12	1905	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	PDS5A_ENST00000503396.1_Nonsense_Mutation_p.Q456*	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATGCTGTTCTGATAATAAATA	0.328																																																0													83	75	77					4																	39905679		1845	4103	5948	SO:0001587	stop_gained	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1366C>T	4.37:g.39905679G>A	ENSP00000303427:p.Gln456*			Nonsense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	42	9.216978	0.99103	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.3464	19.2273	0.93822	0.0:0.0:1.0:0.0	.	.	.	.	X	456	.	.	Q	-	1	0	PDS5A	39582074	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.557000	0.86248	0.591000	0.81541	CAG		0.328	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		A	39905679	G	A	39905679	4	1	361	1	0	0	0	0	0	1	0	0	11693	1299	45	2	2768	2	PDS5A	4	39905679	Nonsense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10		39905679	151248597	8	20371											
TET2	54790	hgsc.bcm.edu	37	4	106155681	106155681	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr4:106155681C>A	ENST00000540549.1	+	3	1442	c.582C>A	c.(580-582)gaC>gaA	p.D194E	TET2_ENST00000545826.1_Missense_Mutation_p.D194E|TET2_ENST00000413648.2_Missense_Mutation_p.D194E|TET2_ENST00000380013.4_Missense_Mutation_p.D194E|TET2_ENST00000394764.1_Missense_Mutation_p.D194E|TET2_ENST00000305737.2_Missense_Mutation_p.D194E|TET2_ENST00000513237.1_Missense_Mutation_p.D215E			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	194					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTACCATGACAAGAACATTG	0.423			"Mis N, F"		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													74	59	64					4																	106155681		2203	4300	6503	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.582C>A	4.37:g.106155681C>A	ENSP00000442788:p.Asp194Glu		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	7.523	0.657148	0.14580	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.04083	3.71;4.41;3.71;4.4;4.41;3.71;3.73	5.19	2.47	0.30058	.	1.191550	0.06634	U	0.759784	T	0.04952	0.0133	L	0.27053	0.805	0.21355	N	0.999717	B;B;B	0.16396	0.001;0.001;0.017	B;B;B	0.15052	0.002;0.002;0.012	T	0.44143	-0.9347	10	0.72032	D	0.01	.	7.5298	0.27677	0.0:0.7123:0.1366:0.1512	.	215;194;194	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	E	194;194;194;215;194;194;194;194	ENSP00000306705:D194E;ENSP00000442788:D194E;ENSP00000442867:D194E;ENSP00000425443:D215E;ENSP00000369351:D194E;ENSP00000378245:D194E;ENSP00000391448:D194E	ENSP00000265149:D194E	D	+	3	2	TET2	106375130	1.000000	0.71417	0.011000	0.14972	0.075000	0.17131	1.273000	0.33121	0.191000	0.20236	-0.150000	0.13652	GAC		0.423	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		A	106155681	C	A	106155681	3	1	361	1	0	0	0	0	1	0	0	0	15775	477	17	4	584	4	TET2	4	106155681	Missense_Mutation	SNP	C	TCGA-BP-4781-01A-01D-1373-10	66250002	106155681	84998595	9	20372											
PLEKHG4B	153478	hgsc.bcm.edu	37	5	145006	145006	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr5:145006G>C	ENST00000283426.6	+	4	858	c.808G>C	c.(808-810)Gcc>Ccc	p.A270P	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	270							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGCTGCCCCTGCCGTCTCCCA	0.617																																																0													56	53	54					5																	145006		2203	4300	6503	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.808G>C	5.37:g.145006G>C	ENSP00000283426:p.Ala270Pro			Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	11.84	1.758076	0.31137	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.60171	0.21;0.21	3.17	3.17	0.36434	.	.	.	.	.	T	0.71962	0.3402	M	0.76328	2.33	0.24876	N	0.992255	D	0.76494	0.999	D	0.66196	0.942	T	0.61078	-0.7135	9	0.41790	T	0.15	.	11.7907	0.52068	0.0:0.0:1.0:0.0	.	270	Q96PX9	PKH4B_HUMAN	P	270;184	ENSP00000283426:A270P;ENSP00000422493:A184P	ENSP00000283426:A270P	A	+	1	0	PLEKHG4B	198006	0.228000	0.23718	0.040000	0.18447	0.117000	0.20001	1.384000	0.34396	1.317000	0.45149	0.313000	0.20887	GCC		0.617	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		C	145006	G	C	145006	3	2	361	1	0	0	0	0	1	0	0	0	12074	1319	46	4	822	4	PLEKHG4B	5	145006	Missense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10		145006	180770254	10	20373											
SLC36A3	285641	hgsc.bcm.edu;ucsc.edu	37	5	150666901	150666901	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr5:150666901A>G	ENST00000335230.3	-	6	1025	c.614T>C	c.(613-615)tTt>tCt	p.F205S	SLC36A3_ENST00000377713.3_Missense_Mutation_p.F246S	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	205						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTCTGGATAAACACCAACAG	0.512																																																0													164	153	157					5																	150666901		2203	4300	6503	SO:0001583	missense	285641			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.614T>C	5.37:g.150666901A>G	ENSP00000334750:p.Phe205Ser		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889987	0.91889	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02787	4.16;4.16	4.86	4.86	0.63082	.	0.156110	0.56097	D	0.000021	T	0.08582	0.0213	L	0.55743	1.74	0.49051	D	0.99974	B;P;B	0.36974	0.164;0.576;0.088	B;P;B	0.50440	0.138;0.641;0.087	T	0.23726	-1.0180	10	0.37606	T	0.19	.	14.3302	0.66550	1.0:0.0:0.0:0.0	.	246;205;190	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	S	205;246	ENSP00000334750:F205S;ENSP00000366942:F246S	ENSP00000334750:F205S	F	-	2	0	SLC36A3	150647094	1.000000	0.71417	0.958000	0.39756	0.986000	0.74619	6.536000	0.73842	2.054000	0.61138	0.533000	0.62120	TTT		0.512	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		G	150666901	A	G	150666901	3	3	361	1	0	0	0	0	1	0	0	0	14601	14	1	3	818	3	SLC36A3	5	150666901	Missense_Mutation	SNP	A	TCGA-BP-4781-01A-01D-1373-10	150521895	150666901	30248359	11	20374											
FUCA2	2519	hgsc.bcm.edu;ucsc.edu	37	6	143825091	143825091	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr6:143825091G>C	ENST00000002165.6	-	3	766	c.711C>G	c.(709-711)taC>taG	p.Y237*	FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	237					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TGCTGTTCCAGTATTGATCCG	0.438																																																0													77	71	73					6																	143825091		2203	4300	6503	SO:0001587	stop_gained	2519			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.711C>G	6.37:g.143825091G>C	ENSP00000002165:p.Tyr237*		E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Nonsense_Mutation	SNP	ENST00000002165.6	37	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212608	0.95069	.	.	ENSG00000001036	ENST00000002165	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.2836	13.8888	0.63726	0.0728:0.0:0.9272:0.0	.	.	.	.	X	237	.	ENSP00000002165:Y237X	Y	-	3	2	FUCA2	143866784	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	3.242000	0.51384	2.625000	0.88918	0.650000	0.86243	TAC		0.438	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		C	143825091	G	C	143825091	4	2	361	1	0	0	0	0	0	1	0	0	6097	1024	36	4	712	4	FUCA2	6	143825091	Nonsense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10		143825091	27289976	12	20375											
RNF216	54476	hgsc.bcm.edu;ucsc.edu	37	7	5781389	5781389	+	Intron	SNP	C	C	T			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr7:5781389C>T	ENST00000425013.2	-	4	426				RNF216_ENST00000389902.3_Missense_Mutation_p.D87N	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216						apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTTTTCAGATCTTGCCACTGG	0.368																																																0													109	105	106					7																	5781389		2203	4299	6502	SO:0001627	intron_variant	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.202-114G>A	7.37:g.5781389C>T			Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	CCDS34595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.58|18.58	3.655252|3.655252	0.67472|0.67472	.|.	.|.	ENSG00000011275|ENSG00000011275	ENST00000389902|ENST00000458425	T|.	0.50277|.	0.75|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.148382|.	0.48767|.	D|.	0.000172|.	T|T	0.63094|0.63094	0.2482|0.2482	L|L	0.43152|0.43152	1.355|1.355	0.34896|0.34896	D|D	0.746026|0.746026	P|.	0.49559|.	0.925|.	P|.	0.52159|.	0.691|.	T|T	0.65784|0.65784	-0.6084|-0.6084	9|5	.|.	.|.	.|.	-21.8485|-21.8485	17.7375|17.7375	0.88397|0.88397	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	87|.	Q9NWF9-1|.	.|.	N|K	87|87	ENSP00000374552:D87N|.	.|.	D|E	-|-	1|1	0|0	RNF216|RNF216	5747915|5747915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.119000|1.119000	0.31258|0.31258	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAT|GAA		0.368	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		T	5781389	C	T	5781389	1	4	361	0	1	0	0	0	0	0	0	0	13486	913	32	2		2	RNF216	7	5781389	Intron	SNP	C	TCGA-BP-4781-01A-01D-1373-10		5781389	153357274	13	20376											
CALCR	799	hgsc.bcm.edu;ucsc.edu	37	7	93116284	93116284	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr7:93116284T>G	ENST00000394441.1	-	2	325	c.10A>C	c.(10-12)Aca>Cca	p.T4P	CALCR_ENST00000426151.1_Missense_Mutation_p.T4P|CALCR_ENST00000421592.1_Missense_Mutation_p.T4P|CALCR_ENST00000359558.2_Missense_Mutation_p.T22P|MIR489_ENST00000384923.1_RNA|CALCR_ENST00000360249.4_Missense_Mutation_p.T4P	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	22					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CTTGTAAATGTGAACCTCATT	0.313																																																0													96	103	101					7																	93116284		2203	4300	6503	SO:0001583	missense	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.10A>C	7.37:g.93116284T>G	ENSP00000377959:p.Thr4Pro		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	T	6.910	0.537475	0.13188	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.50001	0.76;0.77;0.77;0.85;0.85	3.93	-5.9	0.02275	.	.	.	.	.	T	0.31199	0.0789	L	0.46157	1.445	0.09310	N	1	B;B	0.29805	0.0;0.257	B;B	0.29267	0.001;0.1	T	0.20538	-1.0272	9	0.45353	T	0.12	.	2.1434	0.03780	0.2209:0.0821:0.3521:0.345	.	22;4	F5H605;A4D1G6	.;.	P	22;4;4;4;4;4	ENSP00000352561:T22P;ENSP00000353385:T4P;ENSP00000399552:T4P;ENSP00000377959:T4P;ENSP00000389295:T4P	ENSP00000352561:T22P	T	-	1	0	CALCR	92954220	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.523000	0.06230	-1.634000	0.01537	-1.139000	0.01908	ACA		0.313	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		G	93116284	T	G	93116284	3	3	361	1	0	0	0	0	1	0	0	0	2581	1696	59	5	1514	5	CALCR	7	93116284	Missense_Mutation	SNP	T	TCGA-BP-4781-01A-01D-1373-10	87334895	93116284	66022379	14	20377											
CBLL1	79872	hgsc.bcm.edu	37	7	107395874	107395874	+	Silent	SNP	G	G	A			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr7:107395874G>A	ENST00000440859.3	+	5	845	c.378G>A	c.(376-378)aaG>aaA	p.K126K	CBLL1_ENST00000222597.2_Silent_p.K125K|CBLL1_ENST00000415884.2_Intron	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	126					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TTCCATGCAAGCATGTTTTTT	0.254																																																0													115	118	117					7																	107395874		2203	4299	6502	SO:0001819	synonymous_variant	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.378G>A	7.37:g.107395874G>A			B7ZM03|Q8TAJ4|Q9H5S6	Silent	SNP	ENST00000440859.3	37	CCDS5747.1																																																																																				0.254	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		A	107395874	G	A	107395874	2	1	361	1	0	0	0	0	0	0	0	1	2705	962	34	2		2	CBLL1	7	107395874	Silent	SNP	G	TCGA-BP-4781-01A-01D-1373-10	14279590	107395874	51742789	15	20378											
E2F5	1875	hgsc.bcm.edu;ucsc.edu	37	8	86118418	86118418	+	Silent	SNP	C	C	A			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr8:86118418C>A	ENST00000416274.2	+	4	547	c.513C>A	c.(511-513)tcC>tcA	p.S171S	E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000418930.2_Silent_p.S171S|E2F5_ENST00000517476.1_Silent_p.S10S|E2F5_ENST00000256117.5_Silent_p.S172S	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	171	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTACATTTTCCTATGTAACTC	0.348																																																0													175	171	172					8																	86118418		1867	4111	5978	SO:0001819	synonymous_variant	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.513C>A	8.37:g.86118418C>A			E9PBN9|Q16601|Q92756	Silent	SNP	ENST00000416274.2	37	CCDS47885.1																																																																																				0.348	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		A	86118418	C	A	86118418	2	1	361	1	0	0	0	0	0	0	0	1	4872	668	24	4		4	E2F5	8	86118418	Silent	SNP	C	TCGA-BP-4781-01A-01D-1373-10		86118418	60245604	16	20379											
TM7SF4	81501	hgsc.bcm.edu	37	8	105361354	105361354	+	Missense_Mutation	SNP	G	G	C	rs67114147	byFrequency	TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr8:105361354G>C	ENST00000297581.2	+	2	623	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.E192Q|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	192					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CAGCAAAGGGGAAGTCCTGAG	0.522													G|||	583	0.116414	0.0605	0.1859	5008	,	,		18345	0.1319		0.1272	False		,,,				2504	0.1155															0								G	GLN/GLU	350,4056	178.3+/-207.1	18,314,1871	104	96	99		574	-1.9	0	8	dbSNP_130	99	1136,7464	231.0+/-265.1	82,972,3246	yes	missense	TM7SF4	NM_030788.2	29	100,1286,5117	CC,CG,GG		13.2093,7.9437,11.4255	benign	192/471	105361354	1486,11520	2203	4300	6503	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.574G>C	8.37:g.105361354G>C	ENSP00000297581:p.Glu192Gln		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	259	0.11858974358974358	34	0.06910569105691057	72	0.19889502762430938	56	0.0979020979020979	97	0.1279683377308707	G	9.109	1.006175	0.19199	0.079437	0.132093	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.33216	1.42	5.53	-1.86	0.07760	.	0.517494	0.23175	N	0.051088	T	0.00039	0.0001	L	0.34521	1.04	0.54753	P	1.2000000000012001E-5	B	0.21071	0.051	B	0.16722	0.016	T	0.33727	-0.9857	8	.	.	.	-1.1699	11.861	0.52465	0.0768:0.5286:0.3946:0.0	.	192	Q9H295	TM7S4_HUMAN	Q	192	ENSP00000297581:E192Q	.	E	+	1	0	TM7SF4	105430530	0.138000	0.22547	0.010000	0.14722	0.873000	0.50193	-0.341000	0.07811	-0.817000	0.04335	0.561000	0.74099	GAA		0.522	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		C	105361354	G	C	105361354	3	2	361	1	0	0	0	0	1	0	0	0	15981	1175	41	4	576	4	TM7SF4	8	105361354	Missense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10	19242936	105361354	41002668	17	20380											
ZFAT	57623	hgsc.bcm.edu;ucsc.edu	37	8	135613761	135613761	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr8:135613761C>T	ENST00000377838.3	-	6	2375	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q	ZFAT_ENST00000520214.1_Missense_Mutation_p.R722Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.R722Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.R722Q|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Missense_Mutation_p.R672Q|ZFAT_ENST00000520727.1_Missense_Mutation_p.R722Q	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	734					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTCCGGATCCGCTCACACAA	0.537																																																0													88	90	90					8																	135613761		2031	4189	6220	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2201G>A	8.37:g.135613761C>T	ENSP00000367069:p.Arg734Gln		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631549	0.46944	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.11495	2.86;2.84;2.83;2.79;2.84;2.77	5.93	5.93	0.95920	.	0.056511	0.64402	D	0.000006	T	0.25717	0.0626	M	0.74389	2.26	0.40175	D	0.977228	D;D;P;P	0.71674	0.998;0.99;0.953;0.73	P;P;B;B	0.54759	0.76;0.561;0.382;0.065	T	0.00649	-1.1627	10	0.66056	D	0.02	-35.3065	12.6167	0.56580	0.0:0.9251:0.0:0.0749	.	672;722;722;734	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	Q	722;722;722;734;722;621;672;722	ENSP00000427879:R722Q;ENSP00000427831:R722Q;ENSP00000394501:R722Q;ENSP00000367069:R734Q;ENSP00000428483:R722Q;ENSP00000429091:R672Q	ENSP00000326997:R621Q	R	-	2	0	ZFAT	135682943	1.000000	0.71417	0.987000	0.45799	0.894000	0.52154	1.157000	0.31724	2.815000	0.96918	0.561000	0.74099	CGG		0.537	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		T	135613761	C	T	135613761	3	4	361	1	0	0	0	0	1	0	0	0	17637	652	23	1	1574	1	ZFAT	8	135613761	Missense_Mutation	SNP	C	TCGA-BP-4781-01A-01D-1373-10	30252407	135613761	10750261	18	20381											
XPA	7507	hgsc.bcm.edu;ucsc.edu	37	9	100437766	100437766	+	Silent	SNP	C	C	T	rs200584154		TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr9:100437766C>T	ENST00000375128.4	-	6	841	c.777G>A	c.(775-777)aaG>aaA	p.K259K	XPA_ENST00000485042.1_5'UTR	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	259					DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				TAGTACAAGTCTTACGGTACA	0.363			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"xeroderma pigmentosum, complementation group A"		E	0													191	159	170					9																	100437766		2202	4300	6502	SO:0001819	synonymous_variant	7507	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.777G>A	9.37:g.100437766C>T			Q5T1U9|Q6LCW7|Q6LD02	Silent	SNP	ENST00000375128.4	37	CCDS6729.1																																																																																				0.363	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		T	100437766	C	T	100437766	2	4	361	1	0	0	0	0	0	0	0	1	17445	912	32	2		2	XPA	9	100437766	Silent	SNP	C	TCGA-BP-4781-01A-01D-1373-10		100437766	40775665	19	20382											
CAMSAP1	157922	hgsc.bcm.edu;ucsc.edu	37	9	138703339	138703339	+	Missense_Mutation	SNP	G	G	A	rs570458407		TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr9:138703339G>A	ENST00000389532.4	-	17	4689	c.4625C>T	c.(4624-4626)aCg>aTg	p.T1542M	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T1553M|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T1264M	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1542	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTTTGGCCCCGTGCCAGTGAG	0.448																																																0													170	136	148					9																	138703339		2203	4300	6503	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4625C>T	9.37:g.138703339G>A	ENSP00000374183:p.Thr1542Met		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054613	0.55218	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.17370	2.29;2.28;2.29	5.2	4.31	0.51392	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	M	0.72118	2.19	0.80722	D	1	P;P	0.50943	0.94;0.859	B;B	0.41723	0.365;0.342	T	0.10245	-1.0638	10	0.87932	D	0	.	14.1102	0.65118	0.073:0.0:0.927:0.0	.	1542;1553	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	M	1542;1264;1553	ENSP00000374183:T1542M;ENSP00000312463:T1264M;ENSP00000386420:T1553M	ENSP00000312463:T1264M	T	-	2	0	CAMSAP1	137843160	1.000000	0.71417	0.985000	0.45067	0.979000	0.70002	7.864000	0.87037	1.329000	0.45376	0.561000	0.74099	ACG		0.448	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		A	138703339	G	A	138703339	3	1	361	1	0	0	0	0	1	0	0	0	2613	1145	40	1	187	1	CAMSAP1	9	138703339	Missense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10	38265573	138703339	2510092	20	20383											
WAC	51322	hgsc.bcm.edu;ucsc.edu	37	10	28897283	28897283	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr10:28897283T>G	ENST00000354911.4	+	8	1249	c.1088T>G	c.(1087-1089)cTt>cGt	p.L363R	WAC_ENST00000428935.1_Missense_Mutation_p.L318R|WAC_ENST00000375664.4_Missense_Mutation_p.L318R|WAC_ENST00000375646.1_Missense_Mutation_p.L215R|WAC_ENST00000347934.4_Missense_Mutation_p.L260R	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	363					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CCAAATCTTCTTAGACAATTG	0.428																																																0													66	60	62					10																	28897283		2203	4300	6503	SO:0001583	missense	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1088T>G	10.37:g.28897283T>G	ENSP00000346986:p.Leu363Arg		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082361	0.76528	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000424454	T;T;T;T;T	0.53857	1.16;1.66;1.71;1.16;0.6	5.47	5.47	0.80525	.	0.113921	0.64402	D	0.000013	T	0.59390	0.2190	L	0.29908	0.895	0.52099	D	0.999942	D;D;D;P	0.69078	0.997;0.99;0.994;0.526	D;P;P;P	0.65010	0.931;0.885;0.855;0.561	T	0.57682	-0.7769	10	0.34782	T	0.22	-11.3862	15.8499	0.78921	0.0:0.0:0.0:1.0	.	318;260;363;318	Q9BTA9-2;Q9BTA9-5;Q9BTA9;Q9BTA9-3	.;.;WAC_HUMAN;.	R	318;215;260;363;318;318	ENSP00000364816:L318R;ENSP00000364797:L215R;ENSP00000311106:L260R;ENSP00000346986:L363R;ENSP00000399706:L318R	ENSP00000311106:L260R	L	+	2	0	WAC	28937289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.618000	0.83043	2.203000	0.70933	0.482000	0.46254	CTT		0.428	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		G	28897283	T	G	28897283	3	3	361	1	0	0	0	0	1	0	0	0	17252	1609	56	5	1118	5	WAC	10	28897283	Missense_Mutation	SNP	T	TCGA-BP-4781-01A-01D-1373-10		28897283	106637464	21	20384											
EGR2	1959	hgsc.bcm.edu	37	10	64573811	64573811	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr10:64573811G>C	ENST00000242480.3	-	2	912	c.587C>G	c.(586-588)aCc>aGc	p.T196S	EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Missense_Mutation_p.T196S|EGR2_ENST00000411732.1_Missense_Mutation_p.T146S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	196					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGAGGAAGAGGTGGAGGTGGT	0.602																																																0													99	95	96					10																	64573811		2203	4300	6503	SO:0001583	missense	1959			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.587C>G	10.37:g.64573811G>C	ENSP00000242480:p.Thr196Ser		B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	9.637	1.137896	0.21123	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732;ENST00000432380	T;T;T	0.11385	2.78;2.78;2.83	4.78	2.82	0.32997	.	0.655113	0.14238	N	0.332298	T	0.03305	0.0096	N	0.02315	-0.6	0.26154	N	0.980104	B;B	0.15930	0.015;0.001	B;B	0.11329	0.006;0.002	T	0.44034	-0.9354	10	0.02654	T	1	-5.366	7.2594	0.26195	0.0:0.1687:0.4839:0.3475	.	146;196	P11161-2;P11161	.;EGR2_HUMAN	S	196;196;146;209	ENSP00000242480:T196S;ENSP00000402040:T196S;ENSP00000387634:T146S	ENSP00000242480:T196S	T	-	2	0	EGR2	64243817	0.997000	0.39634	0.991000	0.47740	0.949000	0.60115	2.677000	0.46892	0.540000	0.28808	0.655000	0.94253	ACC		0.602	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		C	64573811	G	C	64573811	3	2	361	1	0	0	0	0	1	0	0	0	4974	1261	44	4	847	4	EGR2	10	64573811	Missense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10	35676528	64573811	70960936	22	20385											
PYROXD2	84795	hgsc.bcm.edu	37	10	100152266	100152266	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr10:100152266C>T	ENST00000370575.4	-	10	1033	c.985G>A	c.(985-987)Gat>Aat	p.D329N	MIR1287_ENST00000408492.1_RNA|PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	329							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCTGTGCCATCTTCCAGCACA	0.567																																																0													274	185	215					10																	100152266		2203	4300	6503	SO:0001583	missense	84795			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.985G>A	10.37:g.100152266C>T	ENSP00000359607:p.Asp329Asn		D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.248081	0.39697	.	.	ENSG00000119943	ENST00000370575	T	0.61859	0.07	5.0	4.1	0.47936	.	0.149804	0.64402	D	0.000016	T	0.47002	0.1422	L	0.39020	1.185	0.58432	D	0.999996	B	0.15141	0.012	B	0.12837	0.008	T	0.35649	-0.9780	10	0.34782	T	0.22	-6.7916	12.947	0.58376	0.0:0.9206:0.0:0.0794	.	329	Q8N2H3	PYRD2_HUMAN	N	329	ENSP00000359607:D329N	ENSP00000359607:D329N	D	-	1	0	PYROXD2	100142256	1.000000	0.71417	0.690000	0.30148	0.322000	0.28314	7.290000	0.78711	1.092000	0.41356	0.655000	0.94253	GAT		0.567	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		T	100152266	C	T	100152266	3	4	361	1	0	0	0	0	1	0	0	0	12873	913	32	2	788	2	PYROXD2	10	100152266	Missense_Mutation	SNP	C	TCGA-BP-4781-01A-01D-1373-10	35578455	100152266	35382481	23	20386											
FGF8	2253	hgsc.bcm.edu	37	10	103534502	103534502	+	Silent	SNP	G	G	A			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr10:103534502G>A	ENST00000344255.3	-	4	290	c.291C>T	c.(289-291)gaC>gaT	p.D97D	FGF8_ENST00000346714.3_Silent_p.D68D|FGF8_ENST00000320185.2_Silent_p.D108D|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000347978.2_Silent_p.D79D			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	97					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		AGGGGTCGCCGTCCTCTGCCA	0.677																																																0													74	64	67					10																	103534502		2203	4300	6503	SO:0001819	synonymous_variant	2253			D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"Endogenous ligands"	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.291C>T	10.37:g.103534502G>A			A1A514|Q14915|Q15766	Silent	SNP	ENST00000344255.3	37	CCDS7517.1																																																																																				0.677	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1	NM_006119, NM_033165		A	103534502	G	A	103534502	2	1	361	1	0	0	0	0	0	0	0	1	5860	1136	40	1		1	FGF8	10	103534502	Silent	SNP	G	TCGA-BP-4781-01A-01D-1373-10	3382236	103534502	32000245	24	20387											
PLEKHG6	55200	hgsc.bcm.edu	37	12	6436888	6436888	+	Silent	SNP	G	G	A	rs376640639		TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr12:6436888G>A	ENST00000396988.3	+	15	2369	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	PLEKHG6_ENST00000011684.7_Silent_p.G713G|PLEKHG6_ENST00000304581.8_Silent_p.G243G|PLEKHG6_ENST00000449001.2_Silent_p.G681G	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	713						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGTCCTCAGGGGAGGAGGAAG	0.647																																																0													18	22	21					12																	6436888		2200	4292	6492	SO:0001819	synonymous_variant	55200			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.2139G>A	12.37:g.6436888G>A			Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	ENST00000396988.3	37	CCDS8541.1																																																																																				0.647	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		A	6436888	G	A	6436888	2	1	361	1	0	0	0	0	0	0	0	1	12076	1219	43	2		2	PLEKHG6	12	6436888	Silent	SNP	G	TCGA-BP-4781-01A-01D-1373-10		6436888	127415007	25	20388											
GRIN2B	2904	hgsc.bcm.edu	37	12	13906649	13906649	+	Silent	SNP	T	T	A			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr12:13906649T>A	ENST00000609686.1	-	3	821	c.612A>T	c.(610-612)ctA>ctT	p.L204L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	204					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACATGTCCAGTAGGAGGACCT	0.483																																																0													135	132	133					12																	13906649		2203	4300	6503	SO:0001819	synonymous_variant	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.612A>T	12.37:g.13906649T>A			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																				0.483	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			A	13906649	T	A	13906649	2	1	361	1	0	0	0	0	0	0	0	1	6782	1625	57	5		5	GRIN2B	12	13906649	Silent	SNP	T	TCGA-BP-4781-01A-01D-1373-10	7469761	13906649	119945246	26	20389											
ADAMTS20	80070	hgsc.bcm.edu;ucsc.edu	37	12	43825141	43825141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr12:43825141C>T	ENST00000389420.3	-	22	3254	c.3255G>A	c.(3253-3255)tgG>tgA	p.W1085*	ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.W239*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.W1085*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1085	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCACAGGACCCCATGGTCCTA	0.388																																																0													99	92	94					12																	43825141		2203	4300	6503	SO:0001587	stop_gained	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3255G>A	12.37:g.43825141C>T	ENSP00000374071:p.Trp1085*		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	c	40	8.458666	0.98820	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	4.61	3.68	0.42216	.	0.000000	0.47852	D	0.000205	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3764	0.66881	0.1496:0.8504:0.0:0.0	.	.	.	.	X	1085;251;239;1085;1085	.	ENSP00000374068:W1085X	W	-	3	0	ADAMTS20	42111408	1.000000	0.71417	0.990000	0.47175	0.967000	0.64934	5.620000	0.67736	1.165000	0.42670	0.651000	0.88453	TGG		0.388	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		T	43825141	C	T	43825141	4	4	361	1	0	0	0	0	0	1	0	0	266	624	22	2	2548	2	ADAMTS20	12	43825141	Nonsense_Mutation	SNP	C	TCGA-BP-4781-01A-01D-1373-10	29918492	43825141	90026754	27	20390											
NAA25	80018	hgsc.bcm.edu;ucsc.edu	37	12	112498998	112498998	+	Silent	SNP	A	A	G			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr12:112498998A>G	ENST00000261745.4	-	12	1592	c.1344T>C	c.(1342-1344)caT>caC	p.H448H	RP1-267L14.3_ENST00000551125.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	448						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						ATTCCAGTCCATGCTGGTACC	0.433																																																0													109	86	94					12																	112498998		2203	4300	6503	SO:0001819	synonymous_variant	80018			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.1344T>C	12.37:g.112498998A>G			A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	CCDS9159.1																																																																																				0.433	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		G	112498998	A	G	112498998	2	3	361	1	0	0	0	0	0	0	0	1	10123	214	8	3		3	NAA25	12	112498998	Silent	SNP	A	TCGA-BP-4781-01A-01D-1373-10	68673857	112498998	21352897	28	20391											
NEK5	341676	hgsc.bcm.edu;ucsc.edu	37	13	52649897	52649897	+	Silent	SNP	T	T	C	rs370748187		TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr13:52649897T>C	ENST00000355568.4	-	20	1933	c.1794A>G	c.(1792-1794)gaA>gaG	p.E598E		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	598					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GGCATACCTCTTCCTCTTGGA	0.303																																																0								T		1,4397	2.1+/-5.4	0,1,2198	40	41	41		1794	2.6	1	13		41	0,8588		0,0,4294	no	coding-synonymous	NEK5	NM_199289.1		0,1,6492	CC,CT,TT		0.0,0.0227,0.0077		598/709	52649897	1,12985	2199	4294	6493	SO:0001819	synonymous_variant	341676			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1794A>G	13.37:g.52649897T>C			Q5TAP5	Silent	SNP	ENST00000355568.4	37	CCDS31979.1																																																																																				0.303	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		C	52649897	T	C	52649897	2	2	361	1	0	0	0	0	0	0	0	1	10329	1606	56	3		3	NEK5	13	52649897	Silent	SNP	T	TCGA-BP-4781-01A-01D-1373-10		52649897	62519981	29	20392											
C14orf101	54916	hgsc.bcm.edu	37	14	57113992	57113992	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr14:57113992A>G	ENST00000261556.6	+	16	2023	c.1901A>G	c.(1900-1902)gAg>gGg	p.E634G	RP11-1085N6.2_ENST00000553800.1_RNA|RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000536419.1_Missense_Mutation_p.E168G	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	634						integral component of membrane (GO:0016021)											TTACAAAAGGAGCACCCAGTG	0.393																																																0													49	46	47					14																	57113992		2203	4300	6503	SO:0001583	missense	54916			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1901A>G	14.37:g.57113992A>G	ENSP00000261556:p.Glu634Gly		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	A	8.290	0.817536	0.16607	.	.	ENSG00000070269	ENST00000261556;ENST00000536419	T;T	0.47177	1.44;0.85	5.54	1.86	0.25419	.	0.832329	0.11342	N	0.573915	T	0.30135	0.0755	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.20706	-1.0267	10	0.34782	T	0.22	-2.0044	5.5053	0.16850	0.5811:0.2745:0.1445:0.0	.	634	Q9NX78	CN101_HUMAN	G	634;168	ENSP00000261556:E634G;ENSP00000438742:E168G	ENSP00000261556:E634G	E	+	2	0	C14orf101	56183745	0.681000	0.27614	0.013000	0.15412	0.481000	0.33189	1.982000	0.40638	0.158000	0.19367	0.533000	0.62120	GAG		0.393	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		G	57113992	A	G	57113992	3	3	361	1	0	0	0	0	1	0	0	0	1736	304	11	3	1963	3	C14orf101	14	57113992	Missense_Mutation	SNP	A	TCGA-BP-4781-01A-01D-1373-10		57113992	50235548	30	20393											
ERCC4	2072	hgsc.bcm.edu;ucsc.edu	37	16	14041533	14041533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr16:14041533G>T	ENST00000311895.7	+	11	2089	c.2080G>T	c.(2080-2082)Gag>Tag	p.E694*		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	694	ERCC4.|Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ATTTCGAAGTGAGCTTCCATC	0.468			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0													140	127	132					16																	14041533		2197	4300	6497	SO:0001587	stop_gained	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2080G>T	16.37:g.14041533G>T	ENSP00000310520:p.Glu694*		A5PKV6|A8K111|O00140|Q8TD83	Nonsense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	39	7.432555	0.98282	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-30.5689	18.5707	0.91135	0.0:0.0:1.0:0.0	.	.	.	.	X	694;682	.	ENSP00000310520:E694X	E	+	1	0	ERCC4	13949034	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	9.200000	0.95010	2.624000	0.88883	0.655000	0.94253	GAG		0.468	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		T	14041533	G	T	14041533	4	4	361	1	0	0	0	0	0	1	0	0	5217	1291	45	4	2122	4	ERCC4	16	14041533	Nonsense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10		14041533	76313220	31	20394											
SPDYE4	388333	hgsc.bcm.edu	37	17	8660584	8660584	+	Silent	SNP	G	G	C			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr17:8660584G>C	ENST00000328794.6	-	2	512	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	112										breast(1)|endometrium(2)|kidney(1)	4						TCCTACCAAGGAGCCTGTTGA	0.498																																																0													37	41	40					17																	8660584		692	1591	2283	SO:0001819	synonymous_variant	388333			BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"Speedy homologs"	35463	protein-coding gene	gene with protein product			"speedy homolog E4 (Xenopus laevis)"				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.336C>G	17.37:g.8660584G>C			B2RUZ6	Silent	SNP	ENST00000328794.6	37	CCDS45609.1																																																																																				0.498	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076		C	8660584	G	C	8660584	2	2	361	1	0	0	0	0	0	0	0	1	15036	1161	41	4		4	SPDYE4	17	8660584	Silent	SNP	G	TCGA-BP-4781-01A-01D-1373-10		8660584	72534626	32	20395											
CCDC144A	9720	hgsc.bcm.edu	37	17	16638643	16638644	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr17:16638643_16638644insT	ENST00000360524.8	+	12	3134_3135	c.3058_3059insT	c.(3058-3060)atgfs	p.M1020fs	RP11-219A15.1_ENST00000448331.3_Frame_Shift_Ins_p.M1020fs|CCDC144A_ENST00000456009.1_Frame_Shift_Ins_p.M740fs|CCDC144A_ENST00000443444.2_Frame_Shift_Ins_p.M1020fs|CCDC144A_ENST00000399273.1_Frame_Shift_Ins_p.M1020fs	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1020																	AACTGAACAAATGTACCAAATT	0.386																																																0																																										SO:0001589	frameshift_variant	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3059dupT	17.37:g.16638644_16638644dupT	ENSP00000353717:p.Met1020fs		O60311|Q6ZU57	Frame_Shift_Ins	INS	ENST00000360524.8	37	CCDS45621.1																																																																																				0.386	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			T	16638644	-	T	16638643	7	5	361	1	0	1	1	0	0	0	0	0	2779	101	4	0	3104	0	CCDC144A	17	16638643	Frame_Shift_Ins	INS	-	TCGA-BP-4781-01A-01D-1373-10	7978059	16638643	64556567	33	20396											
PCYT2	5833	hgsc.bcm.edu	37	17	79866843	79866843	+	Silent	SNP	G	G	T			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr17:79866843G>T	ENST00000538936.2	-	3	357	c.249C>A	c.(247-249)atC>atA	p.I83I	PCYT2_ENST00000331285.3_Silent_p.I5I|PCYT2_ENST00000570388.1_Silent_p.I5I|PCYT2_ENST00000538721.2_Silent_p.I83I|PCYT2_ENST00000571105.1_Silent_p.I83I|PCYT2_ENST00000570391.1_Silent_p.I51I	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	83					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	CCACCCATTTGATGGCCTGCA	0.567																																																0													126	125	125					17																	79866843		2203	4296	6499	SO:0001819	synonymous_variant	5833			D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.249C>A	17.37:g.79866843G>T			B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Silent	SNP	ENST00000538936.2	37	CCDS11791.1																																																																																				0.567	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		T	79866843	G	T	79866843	2	4	361	1	0	0	0	0	0	0	0	1	11614	1280	45	4		4	PCYT2	17	79866843	Silent	SNP	G	TCGA-BP-4781-01A-01D-1373-10	63228200	79866843	1328367	34	20397											
STXBP2	6813	hgsc.bcm.edu	37	19	7707347	7707347	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr19:7707347A>C	ENST00000221283.5	+	10	858	c.827A>C	c.(826-828)gAg>gCg	p.E276A	STXBP2_ENST00000441779.2_Missense_Mutation_p.E287A|STXBP2_ENST00000414284.2_Missense_Mutation_p.E273A	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	276					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGGCGCGGGAGAAGGCCGTC	0.642																																																0													146	147	147					19																	7707347		2203	4300	6503	SO:0001583	missense	6813			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.827A>C	19.37:g.7707347A>C	ENSP00000221283:p.Glu276Ala		B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.477204	0.26511	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.77229	-1.08;-1.08;-1.08	4.38	3.35	0.38373	.	0.180483	0.46758	D	0.000266	T	0.77818	0.4187	M	0.84082	2.675	0.35762	D	0.820221	P;B;P;P	0.45768	0.866;0.013;0.837;0.866	B;B;B;B	0.42959	0.403;0.063;0.281;0.403	T	0.80728	-0.1253	10	0.48119	T	0.1	-5.7437	8.6017	0.33749	0.8279:0.0:0.0:0.1721	.	287;242;273;276	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	A	276;273;287;276	ENSP00000221283:E276A;ENSP00000409471:E273A;ENSP00000413606:E287A	ENSP00000221283:E276A	E	+	2	0	STXBP2	7613347	1.000000	0.71417	0.875000	0.34327	0.012000	0.07955	1.788000	0.38714	0.622000	0.30249	0.482000	0.46254	GAG		0.642	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		C	7707347	A	C	7707347	3	2	361	1	0	0	0	0	1	0	0	0	15358	304	11	5	865	5	STXBP2	19	7707347	Missense_Mutation	SNP	A	TCGA-BP-4781-01A-01D-1373-10		7707347	51421636	35	20398											
NOTCH3	4854	hgsc.bcm.edu;ucsc.edu	37	19	15278141	15278141	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr19:15278141G>A	ENST00000263388.2	-	29	5356	c.5281C>T	c.(5281-5283)Cgc>Tgc	p.R1761C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1761					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGTGCCACGCGGATGTCAGCA	0.622																																																0													144	108	120					19																	15278141		2203	4300	6503	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5281C>T	19.37:g.15278141G>A	ENSP00000263388:p.Arg1761Cys		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912364	0.72983	.	.	ENSG00000074181	ENST00000263388	D	0.83335	-1.71	4.26	4.26	0.50523	.	.	.	.	.	T	0.80518	0.4638	M	0.70842	2.15	0.80722	D	1	P	0.38800	0.648	B	0.36418	0.224	T	0.82914	-0.0221	9	0.66056	D	0.02	.	10.9122	0.47116	0.0:0.0:0.8119:0.1881	.	1761	Q9UM47	NOTC3_HUMAN	C	1761	ENSP00000263388:R1761C	ENSP00000263388:R1761C	R	-	1	0	NOTCH3	15139141	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.409000	0.73289	2.193000	0.70182	0.467000	0.42956	CGC		0.622	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		A	15278141	G	A	15278141	3	1	361	1	0	0	0	0	1	0	0	0	10552	1116	39	1	1704	1	NOTCH3	19	15278141	Missense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10	7570794	15278141	43850842	36	20399											
KRTAP10-3	386682	hgsc.bcm.edu	37	21	45978591	45978591	+	Missense_Mutation	SNP	G	G	A	rs79221051	byFrequency	TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr21:45978591G>A	ENST00000391620.1	-	1	52	c.8C>T	c.(7-9)aCg>aTg	p.T3M	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	3			T -> A (in dbSNP:rs452472). {ECO:0000269|PubMed:15489334}.			keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CATGGTAGACGTGGCCATGCT	0.647													.|||	646	0.128994	0.171	0.1282	5008	,	,		17637	0.005		0.175	False		,,,				2504	0.1534															0								G	,MET/THR	711,3695	281.1+/-275.7	54,603,1546	59	59	59		,8	1.5	0	21	dbSNP_131	59	1608,6992	289.6+/-299.4	151,1306,2843	no	intron,missense	TSPEAR,KRTAP10-3	NM_144991.2,NM_198696.2	,81	205,1909,4389	AA,AG,GG		18.6977,16.1371,17.8302	,benign	,3/222	45978591	2319,10687	2203	4300	6503	SO:0001583	missense	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.8C>T	21.37:g.45978591G>A	ENSP00000375478:p.Thr3Met		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	CCDS42956.1	290	0.13278388278388278	112	0.22764227642276422	50	0.13812154696132597	1	0.0017482517482517483	127	0.16754617414248021	g	2.833	-0.242255	0.05906	0.161371	0.186977	ENSG00000212935	ENST00000391620	T	0.06449	3.3	3.32	1.47	0.22746	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.43556	-0.9384	8	0.87932	D	0	.	7.1646	0.25683	0.2335:0.0:0.7665:0.0	.	3	P60369	KR103_HUMAN	M	3	ENSP00000375478:T3M	ENSP00000375478:T3M	T	-	2	0	KRTAP10-3	44803019	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.141000	0.16076	0.245000	0.21373	-0.265000	0.10407	ACG		0.647	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			A	45978591	G	A	45978591	3	1	361	1	0	0	0	0	1	0	0	0	8512	1145	40	1	661	1	KRTAP10-3	21	45978591	Missense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10		45978591	2151304	37	20400											
CRYBB3	1417	hgsc.bcm.edu;ucsc.edu	37	22	25597418	25597418	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chr22:25597418G>C	ENST00000215855.2	+	2	135	c.55G>C	c.(55-57)Gac>Cac	p.D19H	CRYBB3_ENST00000404334.1_Missense_Mutation_p.D19H	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	19	N-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						GAGCCATGGAGACCTTGGGGG	0.607																																																0													66	68	67					22																	25597418		2203	4300	6503	SO:0001583	missense	1417				CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.55G>C	22.37:g.25597418G>C	ENSP00000215855:p.Asp19His		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598967	0.66332	.	.	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.79033	-0.94;-1.23	4.81	4.81	0.61882	.	0.309320	0.24039	U	0.042109	T	0.64046	0.2563	N	0.14661	0.345	0.25509	N	0.987473	B	0.12013	0.005	B	0.08055	0.003	T	0.57705	-0.7765	10	0.46703	T	0.11	.	15.3457	0.74334	0.0:0.0:1.0:0.0	.	19	P26998	CRBB3_HUMAN	H	19	ENSP00000215855:D19H;ENSP00000386123:D19H	ENSP00000215855:D19H	D	+	1	0	CRYBB3	23927418	1.000000	0.71417	0.949000	0.38748	0.991000	0.79684	8.017000	0.88712	2.201000	0.70794	0.655000	0.94253	GAC		0.607	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		C	25597418	G	C	25597418	3	2	361	1	0	0	0	0	1	0	0	0	3914	942	33	4	57	4	CRYBB3	22	25597418	Missense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10		25597418	25707148	38	20401											
ARSD	414	hgsc.bcm.edu	37	X	2832696	2832696	+	Intron	SNP	T	T	C	rs113031742		TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chrX:2832696T>C	ENST00000381154.1	-	6	1076				ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGCCTCACTGGTCCTCTCC	0.423																																																0													111	103	106					X																	2832696		2203	4300	6503	SO:0001627	intron_variant	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1000+900A>G	X.37:g.2832696T>C			Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																				0.423	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			C	2832696	T	C	2832696	1	2	361	0	1	0	0	0	0	0	0	0	989	1567	55	3		3	ARSD	23	2832696	Intron	SNP	T	TCGA-BP-4781-01A-01D-1373-10		2832696	152437864	39	20402											
MED14	9282	hgsc.bcm.edu	37	X	40526075	40526075	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chrX:40526075A>C	ENST00000324817.1	-	24	3280	c.3162T>G	c.(3160-3162)agT>agG	p.S1054R		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1054	Pro-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAAAGCCCCACTGGGGGAGC	0.483																																																0													25	23	24					X																	40526075		2201	4292	6493	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3162T>G	X.37:g.40526075A>C	ENSP00000323720:p.Ser1054Arg		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497202	0.64186	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	L	0.47716	1.5	0.53688	D	0.999976	D	0.61697	0.99	D	0.69142	0.962	T	0.63310	-0.6666	9	0.27785	T	0.31	.	10.9003	0.47047	0.9238:0.0:0.0762:0.0	.	1054	O60244	MED14_HUMAN	R	1054	.	ENSP00000323720:S1054R	S	-	3	2	MED14	40411019	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.239000	0.43079	1.896000	0.54893	0.402000	0.26972	AGT		0.483	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		C	40526075	A	C	40526075	3	2	361	1	0	0	0	0	1	0	0	0	9434	156	6	5	1234	5	MED14	23	40526075	Missense_Mutation	SNP	A	TCGA-BP-4781-01A-01D-1373-10	37693379	40526075	114744485	40	20403											
SAGE1	55511	hgsc.bcm.edu;ucsc.edu	37	X	134991924	134991924	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chrX:134991924G>T	ENST00000370709.3	+	13	1709	c.1709G>T	c.(1708-1710)aGt>aTt	p.S570I	SAGE1_ENST00000324447.3_Missense_Mutation_p.S570I|SAGE1_ENST00000537770.1_Missense_Mutation_p.S194I|SAGE1_ENST00000535938.1_Missense_Mutation_p.S570I			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	570						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCGGCCATGAGTACCAGGGAT	0.413																																																0													147	126	134					X																	134991924		2203	4300	6503	SO:0001583	missense	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1709G>T	X.37:g.134991924G>T	ENSP00000359743:p.Ser570Ile		Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	5.150	0.213269	0.09757	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.35789	1.36;1.36;1.29;1.36	0.495	0.495	0.16890	.	0.137335	0.49305	U	0.000155	T	0.37210	0.0995	N	0.24115	0.695	0.09310	N	1	D;P	0.55605	0.972;0.845	D;P	0.66351	0.943;0.55	T	0.10965	-1.0607	9	0.51188	T	0.08	.	.	.	.	.	194;570	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	I	570;570;194;570	ENSP00000323191:S570I;ENSP00000445959:S570I;ENSP00000438276:S194I;ENSP00000359743:S570I	ENSP00000323191:S570I	S	+	2	0	SAGE1	134819590	0.048000	0.20356	0.009000	0.14445	0.008000	0.06430	0.856000	0.27818	0.494000	0.27859	0.263000	0.19301	AGT		0.413	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		T	134991924	G	T	134991924	3	4	361	1	0	0	0	0	1	0	0	0	13815	1029	36	4	1759	4	SAGE1	23	134991924	Missense_Mutation	SNP	G	TCGA-BP-4781-01A-01D-1373-10	94465849	134991924	20278636	41	20404											
SLITRK4	139065	hgsc.bcm.edu	37	X	142718802	142718802	+	Silent	SNP	G	G	C	rs199783133		TCGA-BP-4781-01A-01D-1373-10	TCGA-BP-4781-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9c2726a8-ef24-4653-80c3-247a9c2a0608	ecd9132b-830c-48a8-ba7f-1da213c154b4	g.chrX:142718802G>C	ENST00000381779.4	-	2	348	c.123C>G	c.(121-123)gtC>gtG	p.V41V	SLITRK4_ENST00000338017.4_Silent_p.V41V|SLITRK4_ENST00000356928.1_Silent_p.V41V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	41						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCACAGTTGACATAGAGCA	0.373													G|||	1	0.000264901	0.0	0.0	3775	,	,		13083	0.001		0.0	False		,,,				2504	0.0															0													71	66	68					X																	142718802		2203	4300	6503	SO:0001819	synonymous_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.123C>G	X.37:g.142718802G>C			Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	CCDS14679.1																																																																																				0.373	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		C	142718802	G	C	142718802	2	2	361	1	0	0	0	0	0	0	0	1	14751	1277	45	4		4	SLITRK4	23	142718802	Silent	SNP	G	TCGA-BP-4781-01A-01D-1373-10	7726878	142718802	12551758	42	20405											
CELA3A	10136	broad.mit.edu;ucsc.edu	37	1	22336337	22336337	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:22336337A>G	ENST00000290122.3	+	7	801	c.782A>G	c.(781-783)gAc>gGc	p.D261G	RNU6-776P_ENST00000364403.1_RNA|RN7SL186P_ENST00000466485.2_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	261	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.D261G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCTTCATCGACTGGATTGAG	0.602																																																1	Substitution - Missense(1)	kidney(1)											59	58	59					1																	22336337		2203	4300	6503	SO:0001583	missense	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.782A>G	1.37:g.22336337A>G	ENSP00000290122:p.Asp261Gly		B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	CCDS220.1	.	.	.	.	.	.	.	.	.	.	A	2.435	-0.330051	0.05314	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	T;T	0.20598	2.06;2.06	3.65	2.51	0.30379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.14527	0.0351	L	0.31845	0.965	0.09310	N	0.999999	B	0.10296	0.003	B	0.16722	0.016	T	0.27123	-1.0083	9	0.51188	T	0.08	-33.6676	3.715	0.08434	0.6554:0.2241:0.1205:0.0	.	261	P09093	CEL3A_HUMAN	G	261;69	ENSP00000290122:D261G;ENSP00000383130:D69G	ENSP00000290122:D261G	D	+	2	0	CELA3A	22208924	0.005000	0.15991	0.342000	0.25602	0.049000	0.14656	0.220000	0.17660	0.472000	0.27344	0.374000	0.22700	GAC		0.602	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		G	22336337	A	G	22336337	3	3	362	1	0	0	0	0	1	0	0	0	3215	275	10	3	808	3	CELA3A	1	22336337	Missense_Mutation	SNP	A	TCGA-BP-4782-01A-02D-1421-08		22336337	226914284	1	20406											
RAD54L	8438	broad.mit.edu;hgsc.bcm.edu	37	1	46743873	46743873	+	Silent	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:46743873G>A	ENST00000371975.4	+	18	2837	c.2163G>A	c.(2161-2163)caG>caA	p.Q721Q	RAD54L_ENST00000442598.1_Silent_p.Q721Q|LRRC41_ENST00000472710.1_5'Flank	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	721					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q721Q(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGGTACTCCAGGCTGCCTGGG	0.617								Direct reversal of damage;Homologous recombination																																								1	Substitution - coding silent(1)	kidney(1)											39	36	37					1																	46743873		2203	4300	6503	SO:0001819	synonymous_variant	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.2163G>A	1.37:g.46743873G>A			Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	CCDS532.1																																																																																				0.617	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		A	46743873	G	A	46743873	2	1	362	1	0	0	0	0	0	0	0	1	12999	991	35	2		2	RAD54L	1	46743873	Silent	SNP	G	TCGA-BP-4782-01A-02D-1421-08	24407536	46743873	202506748	2	20407											
TNR	7143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	175360502	175360502	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:175360502C>G	ENST00000367674.2	-	7	2137	c.1429G>C	c.(1429-1431)Ggg>Cgg	p.G477R	TNR_ENST00000263525.2_Missense_Mutation_p.G477R			Q92752	TENR_HUMAN	tenascin R	477	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.G477R(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TATTCCTCCCCAGGCTTTAGT	0.562																																																1	Substitution - Missense(1)	kidney(1)											68	67	67					1																	175360502		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1429G>C	1.37:g.175360502C>G	ENSP00000356646:p.Gly477Arg		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507190	0.85282	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.62639	0.01;0.01	5.33	5.33	0.75918	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82618	0.5076	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85757	0.1347	10	0.87932	D	0	.	18.6187	0.91313	0.0:1.0:0.0:0.0	.	477	Q92752	TENR_HUMAN	R	477	ENSP00000356646:G477R;ENSP00000263525:G477R	ENSP00000263525:G477R	G	-	1	0	TNR	173627125	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	7.376000	0.79658	2.486000	0.83907	0.655000	0.94253	GGG		0.562	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		G	175360502	C	G	175360502	3	3	362	1	0	0	0	0	1	0	0	0	16343	594	21	4	2715	4	TNR	1	175360502	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08	128616629	175360502	73890119	3	20408											
FMOD	2331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203316788	203316788	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:203316788G>A	ENST00000354955.4	-	2	1074	c.611C>T	c.(610-612)gCc>gTc	p.A204V	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	204					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.A204V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GAGGTACAAGGCCGTGAGGTT	0.582																																																1	Substitution - Missense(1)	kidney(1)											111	111	111					1																	203316788		2203	4300	6503	SO:0001583	missense	2331			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.611C>T	1.37:g.203316788G>A	ENSP00000347041:p.Ala204Val		Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	CCDS30976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.067|9.067	0.996025|0.996025	0.19043|0.19043	.|.	.|.	ENSG00000122176|ENSG00000122176	ENST00000435105;ENST00000354955|ENST00000539467	T|.	0.54866|.	0.55|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.241534|.	0.41938|.	D|.	0.000788|.	T|T	0.30039|0.30039	0.0752|0.0752	N|N	0.02403|0.02403	-0.565|-0.565	0.36272|0.36272	D|D	0.855244|0.855244	P|.	0.49961|.	0.93|.	P|.	0.53102|.	0.718|.	T|T	0.33137|0.33137	-0.9880|-0.9880	10|6	0.10636|0.08179	T|T	0.68|0.78	-10.3664|-10.3664	17.2771|17.2771	0.87119|0.87119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	204|.	Q06828|.	FMOD_HUMAN|.	V|S	191;204|183	ENSP00000347041:A204V|.	ENSP00000347041:A204V|ENSP00000438680:P183S	A|P	-|-	2|1	0|0	FMOD|FMOD	201583411|201583411	0.913000|0.913000	0.31002|0.31002	0.938000|0.938000	0.37757|0.37757	0.809000|0.809000	0.45718|0.45718	2.370000|2.370000	0.44240|0.44240	2.414000|2.414000	0.81942|0.81942	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.582	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		A	203316788	G	A	203316788	3	1	362	1	0	0	0	0	1	0	0	0	5961	1203	42	2	527	2	FMOD	1	203316788	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	27956286	203316788	45933833	4	20409											
PRELP	5549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203453269	203453269	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:203453269C>A	ENST00000343110.2	+	2	1084	c.957C>A	c.(955-957)aaC>aaA	p.N319K		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	319					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.N319K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTACCTCAACAACAATAGCA	0.567																																																1	Substitution - Missense(1)	kidney(1)											26	30	29					1																	203453269		2183	4232	6415	SO:0001583	missense	5549			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.957C>A	1.37:g.203453269C>A	ENSP00000343924:p.Asn319Lys		Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480962	0.63849	.	.	ENSG00000188783	ENST00000343110	T	0.04502	3.61	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	N	0.14661	0.345	0.54753	D	0.999988	D	0.61080	0.989	D	0.67725	0.953	T	0.42103	-0.9471	10	0.40728	T	0.16	-7.2958	10.0921	0.42453	0.0:0.9068:0.0:0.0932	.	319	P51888	PRELP_HUMAN	K	319	ENSP00000343924:N319K	ENSP00000343924:N319K	N	+	3	2	PRELP	201719892	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.755000	0.38379	2.214000	0.71695	0.462000	0.41574	AAC		0.567	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		A	203453269	C	A	203453269	3	1	362	1	0	0	0	0	1	0	0	0	12478	477	17	4	959	4	PRELP	1	203453269	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08	136481	203453269	45797352	5	20410											
OPTC	26254	broad.mit.edu;hgsc.bcm.edu	37	1	203468978	203468978	+	Splice_Site	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:203468978G>C	ENST00000367222.2	+	5	847	c.731G>C	c.(730-732)aGg>aCg	p.R244T		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	244					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R244T(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAGCCTTCAGGGTGAGTCAA	0.587																																																1	Substitution - Missense(1)	kidney(1)											81	83	83					1																	203468978		2203	4300	6503	SO:0001630	splice_region_variant	26254			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"oculoglycan"	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.732+1G>C	1.37:g.203468978G>C			Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	g	12.85	2.062867	0.36373	.	.	ENSG00000188770	ENST00000367222	T	0.02369	4.32	4.57	-4.95	0.03048	.	1.446220	0.04361	N	0.357517	T	0.02156	0.0067	N	0.17800	0.525	0.09310	N	0.999997	B	0.18013	0.025	B	0.12837	0.008	T	0.46830	-0.9163	10	0.39692	T	0.17	-6.0E-4	6.3163	0.21192	0.5977:0.0:0.1529:0.2495	.	244	Q9UBM4	OPT_HUMAN	T	244	ENSP00000356191:R244T	ENSP00000356191:R244T	R	+	2	0	OPTC	201735601	0.408000	0.25360	0.003000	0.11579	0.117000	0.20001	0.303000	0.19210	-0.935000	0.03728	0.556000	0.70494	AGG		0.587	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359	Missense_Mutation	C	203468978	G	C	203468978	5	2	362	1	0	0	0	0	0	0	1	0	10890	1014	35	4	745	4	OPTC	1	203468978	Splice_Site	SNP	G	TCGA-BP-4782-01A-02D-1421-08	15709	203468978	45781643	6	20411											
LYST	1130	broad.mit.edu	37	1	235907322	235907322	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:235907322T>C	ENST00000389794.3	-	30	8282	c.8108A>G	c.(8107-8109)aAa>aGa	p.K2703R	LYST_ENST00000389793.2_Missense_Mutation_p.K2703R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2703					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.K2703R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAAATTTCTTTCTGAAATGG	0.313																																																1	Substitution - Missense(1)	kidney(1)											49	55	53					1																	235907322		2200	4292	6492	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8108A>G	1.37:g.235907322T>C	ENSP00000374444:p.Lys2703Arg		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	6.965	0.547911	0.13312	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.64991	-0.13;-0.13	5.64	3.34	0.38264	.	5.280330	0.00166	N	0.000010	T	0.53626	0.1808	L	0.32530	0.975	0.80722	D	1	B	0.19331	0.035	B	0.15870	0.014	T	0.30794	-0.9966	10	0.30078	T	0.28	.	7.9296	0.29895	0.0:0.16:0.0:0.84	.	2703	Q99698	LYST_HUMAN	R	2703	ENSP00000374444:K2703R;ENSP00000374443:K2703R	ENSP00000374443:K2703R	K	-	2	0	LYST	233973945	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	1.632000	0.37102	1.083000	0.41159	0.528000	0.53228	AAA		0.313	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235907322	T	C	235907322	3	2	362	1	0	0	0	0	1	0	0	0	9130	1841	64	3	3393	3	LYST	1	235907322	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	32438344	235907322	13343299	7	20412											
PKDCC	91461	broad.mit.edu	37	2	42275952	42275952	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:42275952C>T	ENST00000294964.5	+	1	793	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic									p.R62W(1)|p.R205W(1)		breast(2)|kidney(1)|lung(5)	8						GCTGCTGGAGCGGCTGCGGCA	0.667																																																2	Substitution - Missense(2)	kidney(2)											23	17	19					2																	42275952		2185	4282	6467	SO:0001583	missense	91461				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"vertebrate lonesome kinase"	614150	"protein kinase domain containing, cytoplasmic homolog (mouse)"			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.613C>T	2.37:g.42275952C>T	ENSP00000294964:p.Arg205Trp			Missense_Mutation	SNP	ENST00000294964.5	37	CCDS33186.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959346	0.74016	.	.	ENSG00000162878	ENST00000294964	.	.	.	3.8	1.68	0.24146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.410146	0.23805	N	0.044390	T	0.78400	0.4277	M	0.90705	3.14	0.46609	D	0.999128	D	0.89917	1.0	D	0.73708	0.981	T	0.78388	-0.2223	9	0.87932	D	0	-21.9198	7.3488	0.26678	0.2806:0.5759:0.1435:0.0	.	205	Q504Y2	PKDCC_HUMAN	W	205	.	ENSP00000294964:R205W	R	+	1	2	PKDCC	42129456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.194000	0.32174	0.771000	0.33359	0.448000	0.29417	CGG		0.667	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325745.3			T	42275952	C	T	42275952	3	4	362	1	0	0	0	0	1	0	0	0	11971	759	27	1	615	1	PKDCC	2	42275952	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08		42275952	200923421	8	20413											
TTN	7273	broad.mit.edu	37	2	179406098	179406098	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:179406098T>A	ENST00000591111.1	-	300	93007	c.92783A>T	c.(92782-92784)gAa>gTa	p.E30928V	TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23696V|TTN_ENST00000342992.6_Missense_Mutation_p.E30001V|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23504V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23629V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E32569V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30928	Fibronectin type-III 125. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E30001V(1)|p.E23629V(1)|p.E23696V(1)|p.E29999V(1)|p.E23504V(1)		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)			GTGTTCATATTCTAAGCCTTC	0.488																																																5	Substitution - Missense(5)	kidney(5)											94	91	92					2																	179406098		1955	4146	6101	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92783A>T	2.37:g.179406098T>A	ENSP00000465570:p.Glu30928Val		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	27.1	4.800447	0.90538	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72550	0.3474	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.75224	-0.3393	9	0.87932	D	0	.	15.9957	0.80237	0.0:0.0:0.0:1.0	.	23504;23629;23696;30928	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	30001;23504;23696;23629;23501	ENSP00000343764:E30001V;ENSP00000434586:E23504V;ENSP00000340554:E23696V;ENSP00000352154:E23629V	ENSP00000340554:E23696V	E	-	2	0	TTN	179114344	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.174000	0.68829	0.459000	0.35465	GAA		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179406098	T	A	179406098	3	1	362	1	0	0	0	0	1	0	0	0	16740	1783	62	5	10325	5	TTN	2	179406098	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	137130146	179406098	63793275	9	20414											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179410271	179410271	+	Frame_Shift_Del	DEL	G	G	-	rs72648261		TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:179410271delG	ENST00000591111.1	-	294	90867	c.90643delC	c.(90643-90645)cgtfs	p.R30215fs	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.R22983fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.R29288fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.R22791fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.R22916fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.R31856fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30215	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTTGACACGTGTCCAGCGC	0.488																																																0													360	351	354					2																	179410271		2020	4189	6209	SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90643delC	2.37:g.179410271delG	ENSP00000465570:p.Arg30215fs		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	ENST00000591111.1	37																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179410271	G	-	179410271	7	5	362	1	0	1	0	1	0	0	0	0	16740	1145	40	0	12489	0	TTN	2	179410271	Frame_Shift_Del	DEL	G	TCGA-BP-4782-01A-02D-1421-08	4173	179410271	63789102	10	20415											
PLCL1	5334	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	198949407	198949407	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:198949407T>G	ENST00000428675.1	+	2	1564	c.1166T>G	c.(1165-1167)tTt>tGt	p.F389C	PLCL1_ENST00000437704.2_Missense_Mutation_p.F291C	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	389					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.F291C(1)|p.F389C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGTGACATTTTTGATCCTGAG	0.388																																																2	Substitution - Missense(2)	kidney(2)											106	100	102					2																	198949407		2203	4300	6503	SO:0001583	missense	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1166T>G	2.37:g.198949407T>G	ENSP00000402861:p.Phe389Cys		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241318	0.58995	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.21543	2.0;2.0	5.94	5.94	0.96194	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.59715	0.2214	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.72090	-0.4395	9	.	.	.	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	389;315	Q15111;B4DYZ4	PLCL1_HUMAN;.	C	389;291	ENSP00000402861:F389C;ENSP00000414138:F291C	.	F	+	2	0	PLCL1	198657652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.029000	0.88807	2.279000	0.76181	0.459000	0.35465	TTT		0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		G	198949407	T	G	198949407	3	3	362	1	0	0	0	0	1	0	0	0	12041	1841	64	5	1172	5	PLCL1	2	198949407	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	19539136	198949407	44249966	11	20416											
KIAA1486	57624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	226447525	226447526	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:226447525_226447526CC>AG	ENST00000272907.6	+	4	1805_1806	c.1392_1393CC>AG	c.(1390-1395)agCCtc>agAGtc	p.464_465SL>RV	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	464	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.S464R(1)|p.S464>?(1)|p.L465V(1)									ATTCGGGCAGCCTCTCAAGGAG	0.634																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	Exception_encountered	2.37:g.226447525_226447526delinsAG	ENSP00000272907:p.S464_L465delinsRV		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1																																																																																				0.634	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		AG	226447526	CC	AG	226447525	3	1	362	1	0	0	0	0	1	0	0	0	8239	738	26	4	1402	4	KIAA1486	2	226447525	Missense_Mutation	DNP	CC	TCGA-BP-4782-01A-02D-1421-08	27498118	226447525	16751848	12	20417											
NCL	4691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	232321358	232321358	+	Silent	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:232321358T>C	ENST00000322723.4	-	11	1929	c.1689A>G	c.(1687-1689)tcA>tcG	p.S563S	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	563					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.S563S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGCATTAGGTGATCCCCTGG	0.458																																																1	Substitution - coding silent(1)	kidney(1)											111	112	112					2																	232321358		2203	4300	6503	SO:0001819	synonymous_variant	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1689A>G	2.37:g.232321358T>C			Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	CCDS33397.1																																																																																				0.458	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		C	232321358	T	C	232321358	2	2	362	1	0	0	0	0	0	0	0	1	10228	1683	59	3		3	NCL	2	232321358	Silent	SNP	T	TCGA-BP-4782-01A-02D-1421-08	5873833	232321358	10878015	13	20418											
ALPP	250	broad.mit.edu	37	2	233246044	233246044	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:233246044G>T	ENST00000392027.2	+	10	1545	c.1276G>T	c.(1276-1278)Ggc>Tgc	p.G426C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	426					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.G426C(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTCAAGGACGGCGCCCGGCC	0.697																																																1	Substitution - Missense(1)	kidney(1)											55	65	62					2																	233246044		2203	4300	6503	SO:0001583	missense	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1276G>T	2.37:g.233246044G>T	ENSP00000375881:p.Gly426Cys		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281743	0.40394	.	.	ENSG00000163283	ENST00000392027	D	0.96232	-3.95	2.12	2.12	0.27331	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.353217	0.29093	N	0.013167	D	0.97601	0.9214	M	0.88450	2.955	0.39125	D	0.961731	D	0.69078	0.997	P	0.61275	0.886	D	0.97887	1.0295	10	0.66056	D	0.02	.	10.6872	0.45850	0.0:0.0:1.0:0.0	.	426	P05187	PPB1_HUMAN	C	426	ENSP00000375881:G426C	ENSP00000375881:G426C	G	+	1	0	ALPP	232954288	0.042000	0.20092	0.002000	0.10522	0.107000	0.19398	2.189000	0.42621	1.167000	0.42706	0.305000	0.20034	GGC		0.697	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		T	233246044	G	T	233246044	3	4	362	1	0	0	0	0	1	0	0	0	548	1116	39	4	1314	4	ALPP	2	233246044	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	924686	233246044	9953329	14	20419											
ALPPL2	251	broad.mit.edu	37	2	233274125	233274125	+	Missense_Mutation	SNP	G	G	T	rs145179673	byFrequency	TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:233274125G>T	ENST00000295453.3	+	10	1319	c.1267G>T	c.(1267-1269)Ggc>Tgc	p.G423C		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	423					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)	p.G423C(1)		breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GCTCAAGGACGGCGCCCGGCC	0.692																																																1	Substitution - Missense(1)	kidney(1)											16	12	14					2																	233274125		2097	4098	6195	SO:0001583	missense	251			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1267G>T	2.37:g.233274125G>T	ENSP00000295453:p.Gly423Cys		A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	10.44	1.349760	0.24426	.	.	ENSG00000163286	ENST00000295453	D	0.96232	-3.95	2.54	0.391	0.16282	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.353217	0.29093	N	0.013167	D	0.95217	0.8449	M	0.78223	2.4	0.09310	N	1	B	0.29232	0.238	B	0.38500	0.275	D	0.90817	0.4706	10	0.66056	D	0.02	.	6.6902	0.23167	0.0:0.3688:0.4428:0.1884	.	423	P10696	PPBN_HUMAN	C	423	ENSP00000295453:G423C	ENSP00000295453:G423C	G	+	1	0	ALPPL2	232982369	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	0.077000	0.14738	-0.062000	0.13088	0.205000	0.17691	GGC		0.692	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		T	233274125	G	T	233274125	3	4	362	1	0	0	0	0	1	0	0	0	549	1116	39	4	1305	4	ALPPL2	2	233274125	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	28081	233274125	9925248	15	20420											
KAT2B	8850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	20153227	20153227	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr3:20153227A>G	ENST00000263754.4	+	6	1446	c.991A>G	c.(991-993)Aaa>Gaa	p.K331E		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	331					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.K331E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AAGACAGGAAAAAGATAAACT	0.453																																																1	Substitution - Missense(1)	kidney(1)											125	111	115					3																	20153227		2203	4300	6503	SO:0001583	missense	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.991A>G	3.37:g.20153227A>G	ENSP00000263754:p.Lys331Glu		Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.035944	0.93630	.	.	ENSG00000114166	ENST00000263754	T	0.24723	1.84	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.75777	2.31	0.80722	D	1	D	0.63880	0.993	P	0.62382	0.901	T	0.48479	-0.9032	10	0.46703	T	0.11	-22.624	15.9703	0.80008	1.0:0.0:0.0:0.0	.	331	Q92831	KAT2B_HUMAN	E	331	ENSP00000263754:K331E	ENSP00000263754:K331E	K	+	1	0	KAT2B	20128231	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	9.207000	0.95064	2.171000	0.68590	0.533000	0.62120	AAA		0.453	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		G	20153227	A	G	20153227	3	3	362	1	0	0	0	0	1	0	0	0	7984	15	1	3	1013	3	KAT2B	3	20153227	Missense_Mutation	SNP	A	TCGA-BP-4782-01A-02D-1421-08		20153227	177869203	16	20421											
DNAH1	25981	broad.mit.edu;ucsc.edu	37	3	52393986	52393986	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr3:52393986G>C	ENST00000420323.2	+	27	4723	c.4462G>C	c.(4462-4464)Gtg>Ctg	p.V1488L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1488	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1488L(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGCGGGCAGTGCTGTCAGC	0.572																																																2	Substitution - Missense(2)	kidney(2)											166	174	172					3																	52393986		2161	4260	6421	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4462G>C	3.37:g.52393986G>C	ENSP00000401514:p.Val1488Leu		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571043	0.45798	.	.	ENSG00000114841	ENST00000420323	T	0.58060	0.36	5.13	5.13	0.70059	.	0.000000	0.46758	D	0.000266	T	0.42291	0.1196	L	0.39020	1.185	0.39501	D	0.968207	B	0.28552	0.215	B	0.25614	0.062	T	0.42241	-0.9463	10	0.51188	T	0.08	.	12.1372	0.53979	0.078:0.0:0.922:0.0	.	1488	C9JXH6	.	L	1488	ENSP00000401514:V1488L	ENSP00000401514:V1488L	V	+	1	0	DNAH1	52369026	0.997000	0.39634	0.965000	0.40720	0.627000	0.37826	2.569000	0.45973	2.677000	0.91161	0.561000	0.74099	GTG		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		C	52393986	G	C	52393986	3	2	362	1	0	0	0	0	1	0	0	0	4599	1029	36	4	4564	4	DNAH1	3	52393986	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	32240759	52393986	145628444	17	20422											
GPR15	2838	broad.mit.edu;ucsc.edu	37	3	98251550	98251550	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr3:98251550C>A	ENST00000284311.3	+	1	808	c.673C>A	c.(673-675)Cat>Aat	p.H225N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	225					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.H225N(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GCTGTGTGCCCATTACCAGCA	0.433																																																1	Substitution - Missense(1)	kidney(1)											138	133	135					3																	98251550		2203	4300	6503	SO:0001583	missense	2838				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.673C>A	3.37:g.98251550C>A	ENSP00000284311:p.His225Asn		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247126	0.39697	.	.	ENSG00000154165	ENST00000284311	T	0.39997	1.05	4.92	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.43634	0.1256	L	0.50993	1.605	0.09310	N	0.999995	P	0.47841	0.901	P	0.51777	0.679	T	0.29518	-1.0009	10	0.44086	T	0.13	-4.0725	6.7741	0.23611	0.0:0.8174:0.0:0.1825	.	225	P49685	GPR15_HUMAN	N	225	ENSP00000284311:H225N	ENSP00000284311:H225N	H	+	1	0	GPR15	99734240	0.986000	0.35501	0.857000	0.33713	0.569000	0.35902	5.659000	0.68010	2.729000	0.93468	0.655000	0.94253	CAT		0.433	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			A	98251550	C	A	98251550	3	1	362	1	0	0	0	0	1	0	0	0	6657	594	21	4	675	4	GPR15	3	98251550	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08	45857564	98251550	99770880	18	20423											
PLD1	5337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	171323102	171323102	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr3:171323102G>T	ENST00000351298.4	-	26	3113	c.2987C>A	c.(2986-2988)aCa>aAa	p.T996K	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Missense_Mutation_p.T958K	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	996					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.T996K(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTCATAAATTGTAGCATTTCG	0.413																																					NSCLC(149;2174 3517 34058)											1	Substitution - Missense(1)	kidney(1)											163	146	152					3																	171323102		2203	4300	6503	SO:0001583	missense	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2987C>A	3.37:g.171323102G>T	ENSP00000342793:p.Thr996Lys			Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578605	0.65878	.	.	ENSG00000075651	ENST00000356327;ENST00000351298	T;T	0.05081	3.51;3.5	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.06188	0.0160	L	0.31294	0.92	0.80722	D	1	B;B	0.33288	0.228;0.406	B;B	0.32583	0.046;0.148	T	0.25152	-1.0140	10	0.06494	T	0.89	-20.767	19.7705	0.96361	0.0:0.0:1.0:0.0	.	981;996	Q59EA4;Q13393	.;PLD1_HUMAN	K	958;996	ENSP00000348681:T958K;ENSP00000342793:T996K	ENSP00000342793:T996K	T	-	2	0	PLD1	172805796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.669000	0.90835	0.655000	0.94253	ACA		0.413	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		T	171323102	G	T	171323102	3	4	362	1	0	0	0	0	1	0	0	0	12047	1377	48	4	245	4	PLD1	3	171323102	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	73071552	171323102	26699328	19	20424											
EIF4A2	1974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186504360	186504360	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr3:186504360A>C	ENST00000323963.5	+	7	761	c.697A>C	c.(697-699)Att>Ctt	p.I233L	EIF4A2_ENST00000440191.2_Missense_Mutation_p.I234L|SNORA63_ENST00000363548.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.I138L|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|SNORD2_ENST00000459163.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	233	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.I233L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GAGAGATCCAATTCGAATTCT	0.348			T	BCL6	NHL																																		Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	1	Substitution - Missense(1)	kidney(1)											99	101	101					3																	186504360		2203	4299	6502	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.697A>C	3.37:g.186504360A>C	ENSP00000326381:p.Ile233Leu		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459382	0.43634	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.04654	3.58;3.58;3.58	5.06	5.06	0.68205	DEAD-like helicase (2);	0.095216	0.64402	D	0.000001	T	0.05914	0.0154	N	0.25485	0.75	0.53005	D	0.999968	B;B;B;B	0.26809	0.16;0.043;0.014;0.028	B;B;B;B	0.34452	0.183;0.054;0.103;0.048	T	0.37174	-0.9717	10	0.72032	D	0.01	-9.0749	13.0926	0.59174	1.0:0.0:0.0:0.0	.	89;138;234;233	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	L	233;234;138	ENSP00000326381:I233L;ENSP00000398370:I234L;ENSP00000348925:I138L	ENSP00000326381:I233L	I	+	1	0	EIF4A2	187987054	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.988000	0.56951	2.254000	0.74563	0.528000	0.53228	ATT		0.348	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		C	186504360	A	C	186504360	3	2	362	1	0	0	0	0	1	0	0	0	5027	101	4	5	723	5	EIF4A2	3	186504360	Missense_Mutation	SNP	A	TCGA-BP-4782-01A-02D-1421-08	15181258	186504360	11518070	20	20425											
KLF3	51274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	38690220	38690220	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr4:38690220T>G	ENST00000261438.5	+	3	377	c.72T>G	c.(70-72)aaT>aaG	p.N24K	KLF3_ENST00000514033.1_Missense_Mutation_p.N24K	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	24	Pro-rich.|Repressor domain.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N24K(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ACCCATCTAATTACATGGAAT	0.393																																																1	Substitution - Missense(1)	kidney(1)											72	75	74					4																	38690220		2203	4300	6503	SO:0001583	missense	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.72T>G	4.37:g.38690220T>G	ENSP00000261438:p.Asn24Lys		Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281843	0.59758	.	.	ENSG00000109787	ENST00000261438;ENST00000514033	T;T	0.50001	3.12;0.76	6.07	4.9	0.64082	.	0.063242	0.64402	D	0.000004	T	0.28034	0.0691	N	0.14661	0.345	0.34084	D	0.65996	B	0.29037	0.231	B	0.19666	0.026	T	0.41928	-0.9481	10	0.66056	D	0.02	.	8.8824	0.35382	0.0:0.1384:0.0:0.8616	.	24	P57682	KLF3_HUMAN	K	24	ENSP00000261438:N24K;ENSP00000421252:N24K	ENSP00000261438:N24K	N	+	3	2	KLF3	38366615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.954000	0.49113	2.326000	0.78906	0.533000	0.62120	AAT		0.393	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			G	38690220	T	G	38690220	3	3	362	1	0	0	0	0	1	0	0	0	8349	1490	52	5	78	5	KLF3	4	38690220	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08		38690220	152464056	21	20426											
CDC23	8697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137524758	137524758	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr5:137524758G>C	ENST00000394886.2	-	16	1733	c.1703C>G	c.(1702-1704)cCt>cGt	p.P568R		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	568					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.P562R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAAGGGAGCAGGCACCTCGGT	0.522																																																1	Substitution - Missense(1)	kidney(1)											213	192	199					5																	137524758		2203	4300	6503	SO:0001583	missense	8697			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1703C>G	5.37:g.137524758G>C	ENSP00000378350:p.Pro568Arg		A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661613	0.29515	.	.	ENSG00000094880	ENST00000394886	T	0.41758	0.99	5.29	5.29	0.74685	.	0.276584	0.42682	D	0.000662	T	0.26304	0.0642	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06991	-1.0796	10	0.19147	T	0.46	-8.7203	19.1135	0.93328	0.0:0.0:1.0:0.0	.	568	Q9UJX2	CDC23_HUMAN	R	568	ENSP00000378350:P568R	ENSP00000378350:P568R	P	-	2	0	CDC23	137552657	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	6.628000	0.74262	2.757000	0.94681	0.462000	0.41574	CCT		0.522	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			C	137524758	G	C	137524758	3	2	362	1	0	0	0	0	1	0	0	0	3063	1000	35	4	94	4	CDC23	5	137524758	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08		137524758	43390502	22	20427											
CTNNA1	1495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138269640	138269640	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr5:138269640G>A	ENST00000302763.7	+	18	2673	c.2583G>A	c.(2581-2583)atG>atA	p.M861I	CTNNA1_ENST00000355078.5_Missense_Mutation_p.M758I|CTNNA1_ENST00000518825.1_3'UTR|CTNNA1_ENST00000540387.1_Missense_Mutation_p.M491I	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	861					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.M861I(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATGGAAGATGAAGGCACCAG	0.502																																																1	Substitution - Missense(1)	kidney(1)											92	79	83					5																	138269640		2203	4300	6503	SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2583G>A	5.37:g.138269640G>A	ENSP00000304669:p.Met861Ile		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816285	0.90790	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000540387;ENST00000520520	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	M	0.72353	2.195	0.80722	D	1	D;P	0.65815	0.995;0.955	D;P	0.70227	0.968;0.876	T	0.59343	-0.7472	10	0.27785	T	0.31	-15.655	17.5312	0.87815	0.0:0.0:1.0:0.0	.	738;861	B4DKT9;P35221	.;CTNA1_HUMAN	I	758;861;884;846;491;91	ENSP00000347190:M758I;ENSP00000304669:M861I;ENSP00000438476:M491I;ENSP00000430076:M91I	ENSP00000304669:M861I	M	+	3	0	CTNNA1	138297539	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.596000	0.98267	2.454000	0.82982	0.561000	0.74099	ATG		0.502	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		A	138269640	G	A	138269640	3	1	362	1	0	0	0	0	1	0	0	0	4014	1290	45	2	2649	2	CTNNA1	5	138269640	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	744882	138269640	42645620	23	20428											
C6orf105	84830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	11778959	11778959	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr6:11778959G>C	ENST00000414691.3	-	1	444	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	ADTRP_ENST00000379413.2_Missense_Mutation_p.L12V|ADTRP_ENST00000229583.5_Missense_Mutation_p.L12V	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L12V(1)									CTCAGAACAAGGAAGTGGTAT	0.468																																																1	Substitution - Missense(1)	kidney(1)											182	168	173					6																	11778959		2203	4300	6503	SO:0001583	missense	0			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.34C>G	6.37:g.11778959G>C	ENSP00000404416:p.Leu12Val		B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	ENST00000414691.3	37	CCDS4521.1	.	.	.	.	.	.	.	.	.	.	G	5.338	0.247670	0.10130	.	.	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000379413;ENST00000379415;ENST00000506810	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.83	0.139	0.14798	.	0.586375	0.18441	N	0.141140	T	0.04452	0.0122	L	0.37466	1.105	0.29393	N	0.862459	B;B	0.28512	0.214;0.211	B;B	0.30029	0.055;0.11	T	0.39440	-0.9614	10	0.02654	T	1	-6.8402	1.9699	0.03404	0.1564:0.1216:0.4118:0.3102	.	12;12	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	V	12	ENSP00000404416:L12V;ENSP00000229583:L12V;ENSP00000368723:L12V;ENSP00000368726:L12V;ENSP00000422927:L12V	ENSP00000229583:L12V	L	-	1	0	C6orf105	11886945	1.000000	0.71417	0.150000	0.22450	0.040000	0.13550	0.846000	0.27682	-0.306000	0.08818	0.491000	0.48974	CTT		0.468	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		C	11778959	G	C	11778959	3	2	362	1	0	0	0	0	1	0	0	0	2320	1000	35	4	740	4	C6orf105	6	11778959	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08		11778959	159336108	24	20429											
ATXN1	6310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	16328126	16328126	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr6:16328126T>C	ENST00000244769.4	-	8	1352	c.416A>G	c.(415-417)tAt>tGt	p.Y139C	ATXN1_ENST00000436367.1_Missense_Mutation_p.Y139C	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	139					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.Y139C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GAAGCTGGCATAGGTTCCACT	0.657																																																1	Substitution - Missense(1)	kidney(1)											75	79	78					6																	16328126		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.416A>G	6.37:g.16328126T>C	ENSP00000244769:p.Tyr139Cys		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652063	0.47362	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.50813	0.73;0.73	5.11	5.11	0.69529	.	0.124052	0.56097	D	0.000027	T	0.59838	0.2223	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.67031	-0.5773	10	0.87932	D	0	-19.0477	14.908	0.70735	0.0:0.0:0.0:1.0	.	139	P54253	ATX1_HUMAN	C	139	ENSP00000244769:Y139C;ENSP00000416360:Y139C	ENSP00000244769:Y139C	Y	-	2	0	ATXN1	16436105	1.000000	0.71417	0.999000	0.59377	0.108000	0.19459	4.687000	0.61708	1.925000	0.55765	0.383000	0.25322	TAT		0.657	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		C	16328126	T	C	16328126	3	2	362	1	0	0	0	0	1	0	0	0	1209	1406	49	3	2039	3	ATXN1	6	16328126	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	4549167	16328126	154786941	25	20430											
DNAH8	1769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	38891824	38891824	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr6:38891824T>G	ENST00000359357.3	+	71	10451	c.10197T>G	c.(10195-10197)aaT>aaG	p.N3399K	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.N3363K|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.N3616K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3399					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N3399K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTCCTTTCAATCAGATATTTA	0.418																																																2	Substitution - Missense(2)	kidney(2)											189	182	185					6																	38891824		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10197T>G	6.37:g.38891824T>G	ENSP00000352312:p.Asn3399Lys		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	22.7	4.319226	0.81469	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73897	-0.79;-0.79;-0.79	6.06	-0.555	0.11807	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	M	0.89658	3.05	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.83475	0.0061	10	0.62326	D	0.03	.	10.6324	0.45545	0.0:0.3096:0.0:0.6904	.	3399	Q96JB1	DYH8_HUMAN	K	3604;3604;3399;3363	ENSP00000333363:N3604K;ENSP00000352312:N3399K;ENSP00000402294:N3363K	ENSP00000333363:N3604K	N	+	3	2	DNAH8	38999802	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.650000	0.24858	-0.043000	0.13513	-0.290000	0.09829	AAT		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38891824	T	G	38891824	3	3	362	1	0	0	0	0	1	0	0	0	4609	1432	50	5	10471	5	DNAH8	6	38891824	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	22563698	38891824	132223243	26	20431											
RIMS1	22999	broad.mit.edu	37	6	72960946	72960946	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr6:72960946T>A	ENST00000521978.1	+	15	2573	c.2573T>A	c.(2572-2574)tTa>tAa	p.L858*	RIMS1_ENST00000491071.2_Nonsense_Mutation_p.L858*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.L858*|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.L858*|RIMS1_ENST00000425662.2_Nonsense_Mutation_p.L251*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.L332*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.L858*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.L858*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.L317*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.L332*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.L858*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.L858*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	858					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.L858*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACAGCGCTTTTAGATGATGAA	0.368																																																1	Substitution - Nonsense(1)	kidney(1)											61	57	59					6																	72960946		1948	4145	6093	SO:0001587	stop_gained	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2573T>A	6.37:g.72960946T>A	ENSP00000428417:p.Leu858*		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	44|44	10.708428|10.708428	0.99454|0.99454	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.49305	.|D	.|0.000141	T|.	0.25494|.	0.0620|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22347|.	-1.0219|.	4|.	.|0.02654	.|T	.|1	-8.6752|-8.6752	15.6673|15.6673	0.77238|0.77238	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	L|X	431|858;858;858;858;858;858;858;858;858;858;858;858;332;332;251;251;317;83	.|.	.|ENSP00000264839:L858X	F|L	+|+	3|2	2|0	RIMS1|RIMS1	73017667|73017667	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.838000|0.838000	0.47535|0.47535	8.005000|8.005000	0.88553|0.88553	2.093000|2.093000	0.63338|0.63338	0.477000|0.477000	0.44152|0.44152	TTT|TTA		0.368	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			A	72960946	T	A	72960946	4	1	362	1	0	0	0	0	0	1	0	0	13373	1764	61	5	2794	5	RIMS1	6	72960946	Nonsense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	34069122	72960946	98154121	27	20432											
CYTH3	9265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6226736	6226736	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:6226736T>G	ENST00000350796.3	-	4	330	c.194A>C	c.(193-195)cAg>cCg	p.Q65P		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	65					establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.Q65P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TTTGTTCCTCTGAGTCGTTTT	0.443																																																1	Substitution - Missense(1)	kidney(1)											273	251	259					7																	6226736		2203	4300	6503	SO:0001583	missense	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.194A>C	7.37:g.6226736T>G	ENSP00000297044:p.Gln65Pro		A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177962	0.57692	.	.	ENSG00000008256	ENST00000350796	T	0.30448	1.53	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	L	0.54863	1.705	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.05068	-1.0908	10	0.38643	T	0.18	.	14.8209	0.70070	0.0:0.0:0.0:1.0	.	65	O43739-2	.	P	65	ENSP00000297044:Q65P	ENSP00000297044:Q65P	Q	-	2	0	CYTH3	6193261	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.588000	0.82629	2.198000	0.70561	0.533000	0.62120	CAG		0.443	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		G	6226736	T	G	6226736	3	3	362	1	0	0	0	0	1	0	0	0	4207	1580	55	5	1045	5	CYTH3	7	6226736	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08		6226736	152911927	28	20433											
C7orf46	340277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23737866	23737866	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:23737866C>A	ENST00000344962.4	+	5	782	c.693C>A	c.(691-693)ttC>ttA	p.F231L	FAM221A_ENST00000409192.3_Intron|FAM221A_ENST00000409653.1_Missense_Mutation_p.F173L|FAM221A_ENST00000409994.3_Intron	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	231								p.F231L(1)									ACAGCCCATTCCTAAAAGCAT	0.338																																																1	Substitution - Missense(1)	kidney(1)											133	136	135					7																	23737866		2203	4299	6502	SO:0001583	missense	0				CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 46"	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.693C>A	7.37:g.23737866C>A	ENSP00000342576:p.Phe231Leu		Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	37	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711143	0.68730	.	.	ENSG00000188732	ENST00000344962;ENST00000409653	T;T	0.25085	1.94;1.82	5.96	-0.752	0.11072	.	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.80183	2.485	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.50482	-0.8823	10	0.62326	D	0.03	-17.3659	11.6552	0.51313	0.0:0.4507:0.0:0.5493	.	231	A4D161	CG046_HUMAN	L	231;173	ENSP00000342576:F231L;ENSP00000386900:F173L	ENSP00000342576:F231L	F	+	3	2	C7orf46	23704391	0.987000	0.35691	0.996000	0.52242	0.669000	0.39330	0.458000	0.21892	-0.037000	0.13646	-0.302000	0.09304	TTC		0.338	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		A	23737866	C	A	23737866	3	1	362	1	0	0	0	0	1	0	0	0	2398	854	30	4	711	4	C7orf46	7	23737866	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08	17511130	23737866	135400797	29	20434											
HECW1	23072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	43503283	43503283	+	Silent	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:43503283T>C	ENST00000395891.2	+	14	3281	c.2676T>C	c.(2674-2676)atT>atC	p.I892I	HECW1_ENST00000453890.1_Silent_p.I858I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	892					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I871I(1)|p.I892I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCGAACCATTGCAACAGAGA	0.488																																																2	Substitution - coding silent(2)	kidney(2)											69	75	73					7																	43503283		1905	4113	6018	SO:0001819	synonymous_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2676T>C	7.37:g.43503283T>C			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	CCDS5469.2																																																																																				0.488	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		C	43503283	T	C	43503283	2	2	362	1	0	0	0	0	0	0	0	1	7044	1800	63	3		3	HECW1	7	43503283	Silent	SNP	T	TCGA-BP-4782-01A-02D-1421-08	19765417	43503283	115635380	30	20435											
MRPS17	51373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	56022693	56022693	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:56022693C>T	ENST00000285298.4	+	3	344	c.215C>T	c.(214-216)cCa>cTa	p.P72L	MRPS17_ENST00000426595.1_Missense_Mutation_p.P167L	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	72					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.P72L(1)		kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTACCTGTTCCACGAGCAAAG	0.448																																																1	Substitution - Missense(1)	kidney(1)											187	190	189					7																	56022693		2203	4300	6503	SO:0001583	missense	51373			AB051352	CCDS5520.1	7p11-q11.21	2012-09-13			ENSG00000239789	ENSG00000239789		"Mitochondrial ribosomal proteins / small subunits"	14047	protein-coding gene	gene with protein product	"28S ribosomal protein S17, mitochondrial"	611980				11279123	Standard	NM_015969		Approved	HSPC011, RPMS17, MRP-S17	uc003trd.3	Q9Y2R5	OTTHUMG00000023153	ENST00000285298.4:c.215C>T	7.37:g.56022693C>T	ENSP00000285298:p.Pro72Leu		Q86X15	Missense_Mutation	SNP	ENST00000285298.4	37	CCDS5520.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899604	0.72754	.	.	ENSG00000249773;ENSG00000239789;ENSG00000239789	ENST00000426595;ENST00000285298;ENST00000443449	T	0.00932	5.53	4.84	4.84	0.62591	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.103125	0.43919	D	0.000505	T	0.02688	0.0081	M	0.90309	3.105	0.26598	N	0.973073	B;P	0.37061	0.437;0.58	B;B	0.37601	0.171;0.254	T	0.09207	-1.0685	10	0.52906	T	0.07	.	12.0045	0.53251	0.0:0.7114:0.2886:0.0	.	72;84	Q9Y2R5;Q8IY71	RT17_HUMAN;.	L	167;72;72	ENSP00000390331:P167L	ENSP00000285298:P72L	P	+	2	0	MRPS17;RP11-15K19.2	55990187	0.082000	0.21442	0.753000	0.31225	0.984000	0.73092	3.059000	0.49947	2.518000	0.84900	0.655000	0.94253	CCA		0.448	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251527.2	NM_015969		T	56022693	C	T	56022693	3	4	362	1	0	0	0	0	1	0	0	0	9829	594	21	2	221	2	MRPS17	7	56022693	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08	12519410	56022693	103115970	31	20436											
RABGEF1	27342	broad.mit.edu;hgsc.bcm.edu	37	7	66248812	66248812	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:66248812G>C	ENST00000284957.5	+	4	574	c.497G>C	c.(496-498)gGa>gCa	p.G166A	KCTD7_ENST00000510829.2_Missense_Mutation_p.G166A|KCTD7_ENST00000451741.2_Missense_Mutation_p.G166A|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.G166A|RABGEF1_ENST00000439720.2_Missense_Mutation_p.G179A|KCTD7_ENST00000380828.2_Missense_Mutation_p.G206A|RABGEF1_ENST00000437078.2_Missense_Mutation_p.G180A			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	344	Interaction with ubiquitinated proteins.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.G166A(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TTTTTGGAAGGAATGCATTAC	0.373																																																1	Substitution - Missense(1)	kidney(1)											40	37	38					7																	66248812		2203	4300	6503	SO:0001583	missense	27342			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.497G>C	7.37:g.66248812G>C	ENSP00000284957:p.Gly166Ala		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	3.555	-0.090883	0.07053	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.30714	1.6;1.52;1.52;1.52;1.52;1.52;1.52	5.71	-0.947	0.10382	.	0.642779	0.17431	N	0.174480	T	0.12987	0.0315	N	0.03608	-0.345	0.21933	N	0.999468	B	0.02656	0.0	B	0.01281	0.0	T	0.22347	-1.0219	10	0.12430	T	0.62	-0.132	16.3611	0.83269	0.0:0.7167:0.2166:0.0667	.	180	B4DZM7	.	A	211;206;166;166;166;166;179;180	ENSP00000370208:G206A;ENSP00000421124:G166A;ENSP00000398177:G166A;ENSP00000284957:G166A;ENSP00000415815:G166A;ENSP00000403429:G179A;ENSP00000390480:G180A	ENSP00000370207:G211A	G	+	2	0	RABGEF1;KCTD7	65886247	0.892000	0.30473	0.955000	0.39395	0.993000	0.82548	0.669000	0.25142	-0.187000	0.10516	-0.314000	0.08810	GGA		0.373	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		C	66248812	G	C	66248812	3	2	362	1	0	0	0	0	1	0	0	0	12972	1174	41	4	507	4	RABGEF1	7	66248812	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	10226119	66248812	92889851	32	20437											
LHFPL3	375612	broad.mit.edu	37	7	103969251	103969251	+	Silent	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:103969251C>T	ENST00000535008.1	+	1	148	c.24C>T	c.(22-24)gcC>gcT	p.A8A	LHFPL3_ENST00000543266.1_Silent_p.A8A|LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000424859.1_5'UTR			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	8						integral component of membrane (GO:0016021)		p.A8A(1)		kidney(1)|large_intestine(2)|lung(6)	9						ccgccgctgccgccgccgccg	0.721																																																1	Substitution - coding silent(1)	kidney(1)											11	14	13					7																	103969251		1949	4092	6041	SO:0001819	synonymous_variant	375612			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.24C>T	7.37:g.103969251C>T			A1L383|A4D0Q5	Silent	SNP	ENST00000535008.1	37																																																																																					0.721	LHFPL3-201	KNOWN	basic	protein_coding	protein_coding		NM_199000		T	103969251	C	T	103969251	2	4	362	1	0	0	0	0	0	0	0	1	8768	639	23	1		1	LHFPL3	7	103969251	Silent	SNP	C	TCGA-BP-4782-01A-02D-1421-08	37720439	103969251	55169412	33	20438											
LRRC4	64101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127670011	127670011	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:127670011T>C	ENST00000249363.3	-	2	940	c.683A>G	c.(682-684)aAc>aGc	p.N228S	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	228					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.N228S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGGGAAGTGGTTCCCTGACAT	0.547																																																1	Substitution - Missense(1)	kidney(1)											35	34	34					7																	127670011		2203	4297	6500	SO:0001583	missense	64101			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.683A>G	7.37:g.127670011T>C	ENSP00000249363:p.Asn228Ser		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.082163	0.55861	.	.	ENSG00000128594	ENST00000249363	T	0.72615	-0.67	4.7	4.7	0.59300	.	0.000000	0.64402	U	0.000001	D	0.86108	0.5854	M	0.91249	3.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.88529	0.3101	10	0.62326	D	0.03	.	12.1761	0.54186	0.0:0.0:0.0:1.0	.	228	Q9HBW1	LRRC4_HUMAN	S	228	ENSP00000249363:N228S	ENSP00000249363:N228S	N	-	2	0	LRRC4	127457247	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.868000	0.87116	1.951000	0.56629	0.533000	0.62120	AAC		0.547	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		C	127670011	T	C	127670011	3	2	362	1	0	0	0	0	1	0	0	0	8999	1725	60	3	1282	3	LRRC4	7	127670011	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	23700760	127670011	31468652	34	20439											
RP1L1	94137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	10465398	10465398	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr8:10465398C>G	ENST00000382483.3	-	4	6433	c.6210G>C	c.(6208-6210)gaG>gaC	p.E2070D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2150	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E2070D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCCTGGACCTCCCCTTCAG	0.622																																																1	Substitution - Missense(1)	kidney(1)											117	131	126					8																	10465398		2062	4184	6246	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6210G>C	8.37:g.10465398C>G	ENSP00000371923:p.Glu2070Asp		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	-	0.679	-0.798824	0.02841	.	.	ENSG00000183638	ENST00000382483	T	0.04119	3.7	0.674	-1.35	0.09114	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.27286	0.174	B	0.34093	0.175	T	0.46665	-0.9175	9	0.13470	T	0.59	.	2.022	0.03511	0.2561:0.3151:0.0:0.4288	.	2070	A6NKC6	.	D	2070	ENSP00000371923:E2070D	ENSP00000371923:E2070D	E	-	3	2	RP1L1	10502808	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-4.542000	0.00218	-1.261000	0.02462	-1.544000	0.00907	GAG		0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			G	10465398	C	G	10465398	3	3	362	1	0	0	0	0	1	0	0	0	13539	680	24	4	996	4	RP1L1	8	10465398	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08		10465398	135898624	35	20440											
RPL7	6129	broad.mit.edu;hgsc.bcm.edu	37	8	74204500	74204500	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr8:74204500T>A	ENST00000352983.2	-	3	549	c.264A>T	c.(262-264)aaA>aaT	p.K88N	RPL7_ENST00000396467.1_Missense_Mutation_p.K48N|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396466.1_Missense_Mutation_p.K48N|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396465.1_Missense_Mutation_p.K48N			P18124	RL7_HUMAN	ribosomal protein L7	88					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K88N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CAAACGCCAATTTGGGTTCTG	0.418																																																1	Substitution - Missense(1)	kidney(1)											86	93	91					8																	74204500		2203	4300	6503	SO:0001583	missense	6129			L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"L ribosomal proteins"	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.264A>T	8.37:g.74204500T>A	ENSP00000339795:p.Lys88Asn		A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.913585	0.52439	.	.	ENSG00000147604	ENST00000396467;ENST00000352983;ENST00000396466;ENST00000396465;ENST00000435330;ENST00000431653	.	.	.	4.5	-4.24	0.03777	.	0.000000	0.85682	U	0.000000	T	0.56934	0.2019	M	0.71206	2.165	0.80722	D	1	B	0.27679	0.185	B	0.25506	0.061	T	0.53816	-0.8385	9	0.66056	D	0.02	.	15.4652	0.75394	0.0:0.7059:0.0:0.2941	.	88	P18124	RL7_HUMAN	N	48;88;48;48;48;48	.	ENSP00000339795:K88N	K	-	3	2	RPL7	74367054	0.001000	0.12720	0.770000	0.31555	0.987000	0.75469	-1.570000	0.02140	-0.708000	0.05015	0.477000	0.44152	AAA		0.418	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		A	74204500	T	A	74204500	3	1	362	1	0	0	0	0	1	0	0	0	13605	1490	52	5	498	5	RPL7	8	74204500	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	63739102	74204500	72159522	36	20441											
TRAPPC9	83696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141310714	141310714	+	Splice_Site	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr8:141310714C>T	ENST00000438773.2	-	11	1756		c.e11-1		TRAPPC9_ENST00000389327.3_Splice_Site|TRAPPC9_ENST00000389328.4_Splice_Site	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9						cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.?(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTTCACATGCCTGTTGTTTCA	0.398																																																1	Unknown(1)	kidney(1)											155	149	151					8																	141310714		2203	4300	6503	SO:0001630	splice_region_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1623-1G>A	8.37:g.141310714C>T			Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Splice_Site	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555955	0.86231	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000520857;ENST00000438773	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAPPC9	141379896	1.000000	0.71417	0.958000	0.39756	0.979000	0.70002	6.779000	0.75057	2.801000	0.96364	0.650000	0.86243	.		0.398	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	Intron	T	141310714	C	T	141310714	5	4	362	1	0	0	0	0	0	0	1	0	16470	695	24	2	1876	2	TRAPPC9	8	141310714	Splice_Site	SNP	C	TCGA-BP-4782-01A-02D-1421-08	67106214	141310714	5053308	37	20442											
CHRAC1	54108	broad.mit.edu	37	8	141521619	141521619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr8:141521619delT	ENST00000220913.5	+	1	223	c.21delT	c.(19-21)ggtfs	p.G7fs	CHRAC1_ENST00000519533.1_Frame_Shift_Del_p.G7fs	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	7					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			TGGTCGTGGGTAAAGACAAGG	0.697																																																0													16	14	15					8																	141521619		2174	4285	6459	SO:0001589	frameshift_variant	54108			AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"histone-fold protein CHRAC15"	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.21delT	8.37:g.141521619delT	ENSP00000220913:p.Gly7fs			Frame_Shift_Del	DEL	ENST00000220913.5	37	CCDS6379.1																																																																																				0.697	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444		-	141521619	T	-	141521619	7	5	362	1	0	1	0	1	0	0	0	0	3373	1625	57	0	23	0	CHRAC1	8	141521619	Frame_Shift_Del	DEL	T	TCGA-BP-4782-01A-02D-1421-08	210905	141521619	4842403	38	20443											
FANCG	2189	broad.mit.edu;hgsc.bcm.edu	37	9	35075002	35075002	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr9:35075002G>A	ENST00000378643.3	-	12	2049	c.1558C>T	c.(1558-1560)Cgt>Tgt	p.R520C	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	520					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.R520C(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCAGTCCACGACTAATTAGG	0.557			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		Fanconi anaemia G	9	9p13	2189	"Fanconi anemia, complementation group G"		L	1	Substitution - Missense(1)	kidney(1)											104	98	100					9																	35075002		2203	4300	6503	SO:0001583	missense	2189			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1558C>T	9.37:g.35075002G>A	ENSP00000367910:p.Arg520Cys			Missense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426950	0.83667	.	.	ENSG00000221829	ENST00000378643	T	0.74526	-0.85	5.7	4.75	0.60458	Tetratricopeptide-like helical (1);	.	.	.	.	D	0.83188	0.5200	M	0.63843	1.955	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.84237	0.0470	9	0.87932	D	0	-10.8209	12.5819	0.56394	0.0:0.0:0.8342:0.1658	.	520	O15287	FANCG_HUMAN	C	520	ENSP00000367910:R520C	ENSP00000367910:R520C	R	-	1	0	FANCG	35065002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.270000	0.43355	2.688000	0.91661	0.655000	0.94253	CGT		0.557	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		A	35075002	G	A	35075002	3	1	362	1	0	0	0	0	1	0	0	0	5670	1058	37	1	322	1	FANCG	9	35075002	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08		35075002	106138429	39	20444	160	2									
FANCG	2189	broad.mit.edu;hgsc.bcm.edu	37	9	35075004	35075004	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr9:35075004C>G	ENST00000378643.3	-	12	2047	c.1556G>C	c.(1555-1557)aGt>aCt	p.S519T	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	519					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.S519T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGTCCACGACTAATTAGGGC	0.557			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		Fanconi anaemia G	9	9p13	2189	"Fanconi anemia, complementation group G"		L	1	Substitution - Missense(1)	kidney(1)											104	97	100					9																	35075004		2203	4300	6503	SO:0001583	missense	2189			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1556G>C	9.37:g.35075004C>G	ENSP00000367910:p.Ser519Thr			Missense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694422	0.88830	.	.	ENSG00000221829	ENST00000378643	T	0.55930	0.49	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.63260	0.2496	M	0.61703	1.905	0.30341	N	0.785757	D	0.55172	0.97	P	0.51833	0.681	T	0.65755	-0.6091	9	0.62326	D	0.03	-3.3104	16.58	0.84712	0.0:1.0:0.0:0.0	.	519	O15287	FANCG_HUMAN	T	519	ENSP00000367910:S519T	ENSP00000367910:S519T	S	-	2	0	FANCG	35065004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.616000	0.61197	2.688000	0.91661	0.655000	0.94253	AGT		0.557	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		G	35075004	C	G	35075004	3	3	362	1	0	0	0	0	1	0	0	0	5670	565	20	4	324	4	FANCG	9	35075004	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08	2	35075004	106138427	40	20445	160	2									
GBA2	57704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35738346	35738346	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr9:35738346C>T	ENST00000378103.3	-	14	2603	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'UTR|GBA2_ENST00000378094.4_Missense_Mutation_p.A694T|GBA2_ENST00000545786.1_Missense_Mutation_p.A700T	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	694					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.A694T(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCACAGCTGCCAGCCACAGC	0.562																																																1	Substitution - Missense(1)	kidney(1)											90	96	94					9																	35738346		2203	4300	6503	SO:0001583	missense	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2080G>A	9.37:g.35738346C>T	ENSP00000367343:p.Ala694Thr		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080410	0.94050	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.7	5.7	0.88788	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.047547	0.85682	D	0.000000	D	0.83280	0.5220	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.985;0.999	D	0.84354	0.0534	9	0.72032	D	0.01	-12.8045	19.8389	0.96675	0.0:1.0:0.0:0.0	.	700;694;694	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	T	694;694;700	.	ENSP00000367334:A694T	A	-	1	0	GBA2	35728346	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.458000	0.80787	2.703000	0.92315	0.655000	0.94253	GCA		0.562	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		T	35738346	C	T	35738346	3	4	362	1	0	0	0	0	1	0	0	0	6269	739	26	2	719	2	GBA2	9	35738346	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08	663342	35738346	105475085	41	20446											
GOLGA2	2801	broad.mit.edu	37	9	131021536	131021536	+	Silent	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr9:131021536C>T	ENST00000421699.2	-	19	1938	c.1926G>A	c.(1924-1926)ctG>ctA	p.L642L	GOLGA2_ENST00000609374.1_Silent_p.L630L|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	642					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.L630L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GCTGGGTCTGCAGCAGTAGCT	0.607																																																1	Substitution - coding silent(1)	kidney(1)											26	25	25					9																	131021536		2203	4300	6503	SO:0001819	synonymous_variant	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1926G>A	9.37:g.131021536C>T			Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	CCDS6896.2																																																																																				0.607	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		T	131021536	C	T	131021536	2	4	362	1	0	0	0	0	0	0	0	1	6554	697	25	2		2	GOLGA2	9	131021536	Silent	SNP	C	TCGA-BP-4782-01A-02D-1421-08	95283190	131021536	10191895	42	20447											
BAT2L1	84726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	134351306	134351306	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr9:134351306G>C	ENST00000357304.4	+	15	3845	c.3790G>C	c.(3790-3792)Gac>Cac	p.D1264H	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1264							poly(A) RNA binding (GO:0044822)	p.D1264H(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGACACCCTGACGCATTTGG	0.557											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(2)											43	48	46					9																	134351306		2016	4172	6188	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3790G>C	9.37:g.134351306G>C	ENSP00000349856:p.Asp1264His	1610	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541332	0.45280	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.02015	4.5	5.81	5.81	0.92471	.	.	.	.	.	T	0.08313	0.0207	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.60473	0.875;0.819	T	0.25710	-1.0124	8	.	.	.	.	19.051	0.93046	0.0:0.0:1.0:0.0	.	560;1264	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	H	1264;560	ENSP00000349856:D1264H	.	D	+	1	0	PRRC2B	133341127	1.000000	0.71417	0.083000	0.20561	0.001000	0.01503	6.976000	0.76135	2.745000	0.94114	0.655000	0.94253	GAC		0.557	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	134351306	G	C	134351306	3	2	362	1	0	0	0	0	1	0	0	0	1320	1290	45	4	3848	4	BAT2L1	9	134351306	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	3329770	134351306	6862125	43	20448											
LIPF	8513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	90438403	90438403	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr10:90438403G>A	ENST00000238983.4	+	10	1208	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	LIPF_ENST00000355843.2_Missense_Mutation_p.D365N|LIPF_ENST00000608620.1_Missense_Mutation_p.D355N|LIPF_ENST00000394375.3_Missense_Mutation_p.D398N	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	388					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)	p.D388N(1)|p.D398N(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	AGTTTACAATGACATTGTTTC	0.328																																																2	Substitution - Missense(2)	kidney(2)											58	62	61					10																	90438403		2203	4300	6503	SO:0001583	missense	8513			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.1162G>A	10.37:g.90438403G>A	ENSP00000238983:p.Asp388Asn		B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769341	0.49680	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.71461	-0.57;-0.57;-0.57	5.25	4.32	0.51571	.	0.371038	0.23474	N	0.047794	T	0.66470	0.2792	L	0.59967	1.855	0.22142	N	0.99933	B;B;B;B	0.21071	0.005;0.041;0.01;0.051	B;B;B;B	0.28553	0.062;0.055;0.027;0.091	T	0.61802	-0.6988	10	0.59425	D	0.04	-4.2333	9.1224	0.36795	0.0807:0.1511:0.7682:0.0	.	355;398;365;388	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	N	398;388;355	ENSP00000377900:D398N;ENSP00000238983:D388N;ENSP00000348101:D355N	ENSP00000238983:D388N	D	+	1	0	LIPF	90428383	0.995000	0.38212	0.363000	0.25875	0.944000	0.59088	2.287000	0.43505	1.517000	0.48917	0.655000	0.94253	GAC		0.328	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			A	90438403	G	A	90438403	3	1	362	1	0	0	0	0	1	0	0	0	8824	1290	45	2	1196	2	LIPF	10	90438403	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08		90438403	45096344	44	20449											
TMEM80	283232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	703112	703112	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr11:703112G>C	ENST00000608174.1	+	5	606	c.469G>C	c.(469-471)Gtc>Ctc	p.V157L	TMEM80_ENST00000397510.3_Missense_Mutation_p.V205L|TMEM80_ENST00000397512.3_Missense_Mutation_p.V149L|TMEM80_ENST00000528024.1_3'UTR	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	157						integral component of membrane (GO:0016021)		p.V157L(1)|p.V112L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGGAGGCCGTCCTGCAGGT	0.692																																																2	Substitution - Missense(2)	kidney(2)											18	19	19					11																	703112		2197	4282	6479	SO:0001583	missense	283232				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.469G>C	11.37:g.703112G>C	ENSP00000476563:p.Val157Leu		A8MQ01|A8MXY8|B7WNU5	Missense_Mutation	SNP	ENST00000608174.1	37	CCDS41587.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.707504	0.00712	.	.	ENSG00000177042	ENST00000397510;ENST00000397512;ENST00000526170	D;T	0.88509	-2.39;-1.41	3.84	-5.18	0.02840	.	2.026290	0.03109	N	0.162273	T	0.81327	0.4799	L	0.33189	0.99	0.09310	N	1	B;B;B	0.30114	0.269;0.239;0.154	B;B;B	0.24006	0.05;0.034;0.015	T	0.67542	-0.5644	10	0.11182	T	0.66	-14.4495	14.2177	0.65805	0.828:0.0:0.172:0.0	.	132;149;157	E9PQJ9;Q96HE8-2;Q96HE8	.;.;TMM80_HUMAN	L	157;149;132	ENSP00000380646:V157L;ENSP00000380648:V149L	ENSP00000380646:V157L	V	+	1	0	TMEM80	693112	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.598000	0.00894	-1.171000	0.02765	-1.982000	0.00454	GTC		0.692	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257104.2	NM_174940		C	703112	G	C	703112	3	2	362	1	0	0	0	0	1	0	0	0	16209	1145	40	4	487	4	TMEM80	11	703112	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08		703112	134303404	45	20450											
CAPN1	823	hgsc.bcm.edu	37	11	64972256	64972260	+	Frame_Shift_Del	DEL	TTATG	TTATG	-	rs370475728		TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	TTATG	TTATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr11:64972256_64972260delTTATG	ENST00000527323.1	+	10	1508_1512	c.1268_1272delTTATG	c.(1267-1272)cttatgfs	p.LM423fs	CAPN1_ENST00000279247.6_Frame_Shift_Del_p.LM423fs|CAPN1_ENST00000533129.1_Frame_Shift_Del_p.LM423fs|CAPN1_ENST00000533820.1_Frame_Shift_Del_p.LM423fs|CAPN1_ENST00000524773.1_Frame_Shift_Del_p.LM423fs			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	423	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GTGCTCGCCCTTATGCAGAAGCACC	0.629											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1268_1272delTTATG	11.37:g.64972256_64972260delTTATG	ENSP00000431984:p.Leu423fs	1080	Q2TTR0|Q6DHV4	Frame_Shift_Del	DEL	ENST00000527323.1	37	CCDS44644.1																																																																																				0.629	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			-	64972260	TTATG	-	64972256	7	5	362	1	0	1	0	1	0	0	0	0	2624	1609	56	0	1306	0	CAPN1	11	64972256	Frame_Shift_Del	DEL	TTATG	TCGA-BP-4782-01A-02D-1421-08	64269144	64972256	70034260	46	20451											
KCTD14	65987	broad.mit.edu;ucsc.edu	37	11	77727894	77727894	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr11:77727894G>T	ENST00000353172.5	-	2	557	c.513C>A	c.(511-513)tgC>tgA	p.C171*	KCTD14_ENST00000533144.1_Nonsense_Mutation_p.C141*|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	171					protein homooligomerization (GO:0051260)			p.C171*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TTTCCACCAGGCACACAAGCA	0.527																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)											1	Substitution - Nonsense(1)	kidney(1)											135	127	130					11																	77727894		2200	4292	6492	SO:0001587	stop_gained	65987			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 14"			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.513C>A	11.37:g.77727894G>T	ENSP00000316482:p.Cys171*		B2R9R8	Nonsense_Mutation	SNP	ENST00000353172.5	37	CCDS8255.2	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563660	0.65651	.	.	ENSG00000151364	ENST00000353172;ENST00000533144	.	.	.	4.52	-1.67	0.08238	.	0.051022	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7341	0.51755	0.7627:0.0:0.2373:0.0	.	.	.	.	X	171;141	.	ENSP00000316482:C171X	C	-	3	2	KCTD14	77405542	0.017000	0.18338	0.072000	0.20136	0.100000	0.18952	0.143000	0.16115	-0.302000	0.08869	0.561000	0.74099	TGC		0.527	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		T	77727894	G	T	77727894	4	4	362	1	0	0	0	0	0	1	0	0	8103	1195	42	4	258	4	KCTD14	11	77727894	Nonsense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	12755638	77727894	57278622	47	20452											
ITPR2	3709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	26839514	26839514	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr12:26839514T>C	ENST00000381340.3	-	11	1464	c.1048A>G	c.(1048-1050)Atc>Gtc	p.I350V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	350	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.I350V(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTATACATGATCTTCTCCCCT	0.433																																																1	Substitution - Missense(1)	kidney(1)											190	182	185					12																	26839514		1895	4116	6011	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1048A>G	12.37:g.26839514T>C	ENSP00000370744:p.Ile350Val		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338917	0.41398	.	.	ENSG00000123104	ENST00000381340	D	0.86497	-2.13	4.92	4.92	0.64577	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.90086	0.6903	M	0.73598	2.24	0.80722	D	1	P	0.47545	0.897	P	0.55615	0.78	D	0.87761	0.2598	10	0.09590	T	0.72	.	14.7409	0.69455	0.0:0.0:0.0:1.0	.	350	Q14571	ITPR2_HUMAN	V	350	ENSP00000370744:I350V	ENSP00000370744:I350V	I	-	1	0	ITPR2	26730781	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.795000	0.69074	2.058000	0.61347	0.528000	0.53228	ATC		0.433	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		C	26839514	T	C	26839514	3	2	362	1	0	0	0	0	1	0	0	0	7923	1435	50	3	7245	3	ITPR2	12	26839514	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08		26839514	107012381	48	20453											
KIF21A	55605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	39730918	39730918	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr12:39730918T>G	ENST00000361418.5	-	17	2413	c.2398A>C	c.(2398-2400)Aag>Cag	p.K800Q	KIF21A_ENST00000361961.3_Missense_Mutation_p.K787Q|KIF21A_ENST00000395670.3_Missense_Mutation_p.K800Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.K787Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K787Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	800					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K787Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CGTTGATCCTTTTTCAACTGA	0.328																																																1	Substitution - Missense(1)	kidney(1)											174	156	162					12																	39730918		2203	4299	6502	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2398A>C	12.37:g.39730918T>G	ENSP00000354878:p.Lys800Gln		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.2|25.2	4.617089|4.617089	0.87359|0.87359	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T|T;T;T;T;T	0.24538|0.23754	1.85|1.89;1.89;1.89;1.89;1.89	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.000000|0.000000	0.56097|0.56097	D|D	0.000030|0.000030	T|T	0.54615|0.54615	0.1869|0.1869	M|M	0.82193|0.82193	2.58|2.58	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.89917	.|1.0;0.989;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.996;0.985;0.999;0.996;0.999	T|T	0.61763|0.61763	-0.6996|-0.6996	8|10	0.72032|0.87932	D|D	0.01|0	.|.	14.5444|14.5444	0.68017|0.68017	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|787;787;800;787;800	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.|.;.;KI21A_HUMAN;.;.	N|Q	147|787;800;800;787;800;787	ENSP00000447765:K147N|ENSP00000354851:K787Q;ENSP00000379029:K800Q;ENSP00000445606:K787Q;ENSP00000354878:K800Q;ENSP00000438075:K787Q	ENSP00000449698:K57N|ENSP00000344501:K800Q	K|K	-|-	3|1	2|0	KIF21A|KIF21A	38017185|38017185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.292000|7.292000	0.78731|0.78731	2.033000|2.033000	0.60031|0.60031	0.528000|0.528000	0.53228|0.53228	AAA|AAG		0.328	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		G	39730918	T	G	39730918	3	3	362	1	0	0	0	0	1	0	0	0	8290	1850	64	5	2714	5	KIF21A	12	39730918	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	12891404	39730918	94120977	49	20454											
STAT2	6773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56750313	56750313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr12:56750313G>A	ENST00000314128.4	-	2	66	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	STAT2_ENST00000418572.2_Nonsense_Mutation_p.Q15*|STAT2_ENST00000557235.1_Nonsense_Mutation_p.Q15*			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	15					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q15*(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AGCTGATCCTGAAAGGGGCTG	0.517																																																1	Substitution - Nonsense(1)	kidney(1)											108	96	100					12																	56750313		2203	4300	6503	SO:0001587	stop_gained	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.43C>T	12.37:g.56750313G>A	ENSP00000315768:p.Gln15*		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Nonsense_Mutation	SNP	ENST00000314128.4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019142	0.75275	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	.	.	.	4.97	4.05	0.47172	.	0.592613	0.17934	N	0.157066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-5.1058	12.0866	0.53700	0.0:0.0:0.8277:0.1723	.	.	.	.	X	15	.	ENSP00000315768:Q15X	Q	-	1	0	STAT2	55036580	1.000000	0.71417	0.980000	0.43619	0.867000	0.49689	4.078000	0.57606	1.414000	0.47017	0.655000	0.94253	CAG		0.517	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		A	56750313	G	A	56750313	4	1	362	1	0	0	0	0	0	1	0	0	15270	1299	45	2	2604	2	STAT2	12	56750313	Nonsense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	17019395	56750313	77101582	50	20455											
INHBC	3626	hgsc.bcm.edu	37	12	57843412	57843413	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr12:57843412_57843413insG	ENST00000309668.2	+	2	793_794	c.666_667insG	c.(667-669)gccfs	p.A223fs		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	223					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CTTTTGTGGCAGCCCGGGTGAG	0.594																																																0																																										SO:0001589	frameshift_variant	3626				CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.667dupG	12.37:g.57843413_57843413dupG	ENSP00000308716:p.Ala223fs		A1L3Y2	Frame_Shift_Ins	INS	ENST00000309668.2	37	CCDS8938.1																																																																																				0.594	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		G	57843413	-	G	57843412	7	5	362	1	0	1	1	0	0	0	0	0	7745	175	7	0	672	0	INHBC	12	57843412	Frame_Shift_Ins	INS	-	TCGA-BP-4782-01A-02D-1421-08	1093099	57843412	76008483	51	20456											
CYP27B1	1594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58158259	58158259	+	Silent	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr12:58158259C>T	ENST00000228606.4	-	6	1247	c.1038G>A	c.(1036-1038)gaG>gaA	p.E346E	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	346					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.E346E(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CAGCTGTGATCTCTGAGTGGA	0.582																																																1	Substitution - coding silent(1)	kidney(1)											122	125	124					12																	58158259		2203	4300	6503	SO:0001819	synonymous_variant	1594			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.1038G>A	12.37:g.58158259C>T			B2RC61|Q548T3	Silent	SNP	ENST00000228606.4	37	CCDS8954.1																																																																																				0.582	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		T	58158259	C	T	58158259	2	4	362	1	0	0	0	0	0	0	0	1	4161	912	32	2		2	CYP27B1	12	58158259	Silent	SNP	C	TCGA-BP-4782-01A-02D-1421-08	314847	58158259	75693636	52	20457											
FRY	10129	broad.mit.edu;ucsc.edu	37	13	32841377	32841377	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr13:32841377C>A	ENST00000380250.3	+	55	8513	c.8017C>A	c.(8017-8019)Cag>Aag	p.Q2673K	FRY_ENST00000542859.1_Missense_Mutation_p.Q43K	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2673						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q2673K(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCCGCCTTTCAGCCCGCAGC	0.542																																																1	Substitution - Missense(1)	kidney(1)											100	107	105					13																	32841377		2049	4195	6244	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8017C>A	13.37:g.32841377C>A	ENSP00000369600:p.Gln2673Lys		Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702073	0.88924	.	.	ENSG00000073910	ENST00000380250;ENST00000380235;ENST00000542859	T	0.24723	1.84	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	M	0.81942	2.565	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.79784	0.977;0.993	T	0.52230	-0.8603	10	0.35671	T	0.21	.	19.4344	0.94785	0.0:1.0:0.0:0.0	.	454;2673	Q8NB82;Q5TBA9	.;FRY_HUMAN	K	2673;317;43	ENSP00000369600:Q2673K	ENSP00000369567:Q317K	Q	+	1	0	FRY	31739377	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	7.458000	0.80787	2.600000	0.87896	0.650000	0.86243	CAG		0.542	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		A	32841377	C	A	32841377	3	1	362	1	0	0	0	0	1	0	0	0	6065	827	29	4	8235	4	FRY	13	32841377	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08		32841377	82328501	53	20458											
MAB21L1	4081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	36049398	36049398	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr13:36049398T>A	ENST00000379919.4	-	1	1434	c.878A>T	c.(877-879)gAg>gTg	p.E293V	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	293					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.E293V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CAGGCAAGACTCGTCCCAGTC	0.542																																																1	Substitution - Missense(1)	kidney(1)											103	88	93					13																	36049398		2203	4300	6503	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.878A>T	13.37:g.36049398T>A	ENSP00000369251:p.Glu293Val		Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149150	0.57151	.	.	ENSG00000180660	ENST00000379919	T	0.11063	2.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	M	0.77820	2.39	0.80722	D	1	P	0.41929	0.765	P	0.49597	0.616	T	0.00756	-1.1579	10	0.48119	T	0.1	-36.0866	16.0659	0.80870	0.0:0.0:0.0:1.0	.	293	Q13394	MB211_HUMAN	V	293	ENSP00000369251:E293V	ENSP00000369251:E293V	E	-	2	0	MAB21L1	34947398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.209000	0.71365	0.533000	0.62120	GAG		0.542	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		A	36049398	T	A	36049398	3	1	362	1	0	0	0	0	1	0	0	0	9143	1551	54	5	205	5	MAB21L1	13	36049398	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	3208021	36049398	79120480	54	20459											
WDFY2	115825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	52293353	52293353	+	Silent	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr13:52293353G>C	ENST00000298125.5	+	5	534	c.354G>C	c.(352-354)acG>acC	p.T118T		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	118							metal ion binding (GO:0046872)	p.T118T(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		GCAGAGTGACGATGATCCTGT	0.517																																																1	Substitution - coding silent(1)	kidney(1)											145	132	136					13																	52293353		2203	4300	6503	SO:0001819	synonymous_variant	115825			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20482	protein-coding gene	gene with protein product		610418	"WD40 and FYVE domain containing 2"				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.354G>C	13.37:g.52293353G>C			B1AL86|Q96CS1	Silent	SNP	ENST00000298125.5	37	CCDS9429.1																																																																																				0.517	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	NM_052950		C	52293353	G	C	52293353	2	2	362	1	0	0	0	0	0	0	0	1	17274	1045	37	4		4	WDFY2	13	52293353	Silent	SNP	G	TCGA-BP-4782-01A-02D-1421-08	16243955	52293353	62876525	55	20460											
MYH7	4625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23891451	23891451	+	Silent	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr14:23891451C>A	ENST00000355349.3	-	25	3345	c.3183G>T	c.(3181-3183)ctG>ctT	p.L1061L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1061					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.L1061L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCCTGGGTCAGCTTCAGGT	0.592																																																1	Substitution - coding silent(1)	kidney(1)											153	119	131					14																	23891451		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3183G>T	14.37:g.23891451C>A			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		A	23891451	C	A	23891451	2	1	362	1	0	0	0	0	0	0	0	1	10041	813	29	4		4	MYH7	14	23891451	Silent	SNP	C	TCGA-BP-4782-01A-02D-1421-08		23891451	83458089	56	20461											
RFX7	64864	hgsc.bcm.edu;ucsc.edu	37	15	56393665	56393665	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr15:56393665delT	ENST00000559447.2	-	7	683	c.412delA	c.(412-414)agcfs	p.S138fs	RFX7_ENST00000317318.6_Frame_Shift_Del_p.S235fs|RFX7_ENST00000423270.1_Frame_Shift_Del_p.S235fs|RFX7_ENST00000422057.1_Frame_Shift_Del_p.S138fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	138					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AATGGTTGGCTTAACACTTTC	0.463																																																0													95	91	92					15																	56393665		1920	4118	6038	SO:0001589	frameshift_variant	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.412delA	15.37:g.56393665delT	ENSP00000453281:p.Ser138fs		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Del	DEL	ENST00000559447.2	37																																																																																					0.463	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		-	56393665	T	-	56393665	7	5	362	1	0	1	0	1	0	0	0	0	13274	1609	56	0	3691	0	RFX7	15	56393665	Frame_Shift_Del	DEL	T	TCGA-BP-4782-01A-02D-1421-08		56393665	46137727	57	20462											
SPSB3	90864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1827748	1827748	+	Splice_Site	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr16:1827748C>G	ENST00000566339.1	-	6	1051	c.721G>C	c.(721-723)Ggt>Cgt	p.G241R	SPSB3_ENST00000301717.4_Splice_Site_p.G241R	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	241	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.G241R(2)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						ACGGCCTCACCTATACACTTC	0.602																																																2	Substitution - Missense(2)	kidney(2)											78	73	75					16																	1827748		2198	4299	6497	SO:0001630	splice_region_variant	90864				CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.721+1G>C	16.37:g.1827748C>G			D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574505	0.65878	.	.	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.66815	-0.23	3.79	3.79	0.43588	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.85405	0.5689	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89585	0.3823	9	.	.	.	-23.6723	14.23	0.65885	0.0:1.0:0.0:0.0	.	241	Q6PJ21	SPSB3_HUMAN	R	241;45	ENSP00000301717:G241R	.	G	-	1	0	SPSB3	1767749	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.296000	0.78790	1.664000	0.50801	0.561000	0.74099	GGT		0.602	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861	Missense_Mutation	G	1827748	C	G	1827748	5	3	362	1	0	0	0	0	0	0	1	0	15119	695	24	4	354	4	SPSB3	16	1827748	Splice_Site	SNP	C	TCGA-BP-4782-01A-02D-1421-08		1827748	88527005	58	20463											
PPL	5493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4953994	4953994	+	Silent	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr16:4953994C>A	ENST00000345988.2	-	3	299	c.210G>T	c.(208-210)gtG>gtT	p.V70V	PPL_ENST00000590782.2_Silent_p.V70V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	70					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.V70V(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTGCAGGGTCACGTCCCGGT	0.622																																																1	Substitution - coding silent(1)	kidney(1)											60	46	50					16																	4953994		2197	4300	6497	SO:0001819	synonymous_variant	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.210G>T	16.37:g.4953994C>A			O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.622	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		A	4953994	C	A	4953994	2	1	362	1	0	0	0	0	0	0	0	1	12339	813	29	4		4	PPL	16	4953994	Silent	SNP	C	TCGA-BP-4782-01A-02D-1421-08	3126246	4953994	85400759	59	20464											
PYCARD	29108	hgsc.bcm.edu	37	16	31213523	31213523	+	Splice_Site	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr16:31213523G>T	ENST00000247470.9	-	2	577	c.276C>A	c.(274-276)ggC>ggA	p.G92G	C16orf98_ENST00000561916.2_Intron|PYCARD_ENST00000350605.4_Intron	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	92					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						CGGCTCCAGAGCCTGGAAGGA	0.697																																																0													21	25	24					16																	31213523		2197	4299	6496	SO:0001630	splice_region_variant	29108			AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.275-1C>A	16.37:g.31213523G>T			Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Silent	SNP	ENST00000247470.9	37	CCDS10708.1																																																																																				0.697	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258	Silent	T	31213523	G	T	31213523	5	4	362	1	0	0	0	0	0	0	1	0	12860	985	34	4	319	4	PYCARD	16	31213523	Splice_Site	SNP	G	TCGA-BP-4782-01A-02D-1421-08	26259529	31213523	59141230	60	20465											
TMEM208	29100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67262757	67262757	+	Silent	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr16:67262757T>A	ENST00000304800.9	+	5	463	c.357T>A	c.(355-357)tcT>tcA	p.S119S	LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000393992.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank|TMEM208_ENST00000563953.1_Silent_p.S49S|LRRC29_ENST00000409509.1_5'Flank|TMEM208_ENST00000565201.1_Silent_p.S119S|LRRC29_ENST00000462169.1_5'Flank|TMEM208_ENST00000563426.1_Intron	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208	119					autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S119S(1)		breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCTGCTTCTCTCTCTATGTCT	0.522																																																1	Substitution - coding silent(1)	kidney(1)											111	116	115					16																	67262757		2022	4180	6202	SO:0001819	synonymous_variant	29100				CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701			25015	protein-coding gene	gene with protein product						11042152	Standard	NM_014187		Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000304800.9:c.357T>A	16.37:g.67262757T>A			Q05CT0|Q96D25|Q9NZZ7	Silent	SNP	ENST00000304800.9	37	CCDS45511.1																																																																																				0.522	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2	NM_014187		A	67262757	T	A	67262757	2	1	362	1	0	0	0	0	0	0	0	1	16138	1538	54	5		5	TMEM208	16	67262757	Silent	SNP	T	TCGA-BP-4782-01A-02D-1421-08	36049234	67262757	23091996	61	20466											
GPR172B	55065	hgsc.bcm.edu;ucsc.edu	37	17	4937468	4937468	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:4937468C>T	ENST00000424747.1	-	3	1028	c.316G>A	c.(316-318)Gca>Aca	p.A106T	SLC52A1_ENST00000512825.2_Missense_Mutation_p.A106T|SLC52A1_ENST00000254853.5_Missense_Mutation_p.A106T	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	106					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)	p.A106T(1)									AGCTGCCCTGCCACTGGGGCC	0.627																																																1	Substitution - Missense(1)	kidney(1)											50	58	55					17																	4937468		2203	4300	6503	SO:0001583	missense	0			AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"Solute carriers"	30225	protein-coding gene	gene with protein product	"riboflavin transporter 1"	607883	"G protein-coupled receptor 172B"	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.316G>A	17.37:g.4937468C>T	ENSP00000399979:p.Ala106Thr		B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900427	0.33535	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.76186	-1.0;-1.0;-1.0	1.84	0.839	0.18907	.	0.127546	0.51477	D	0.000089	T	0.79275	0.4418	M	0.82056	2.57	0.44603	D	0.997576	D;D	0.71674	0.991;0.998	P;P	0.61201	0.885;0.87	T	0.75001	-0.3471	10	0.16896	T	0.51	.	6.3912	0.21587	0.0:0.8254:0.0:0.1746	.	106;106	F5H5Y1;Q9NWF4	.;RFT_HUMAN	T	106	ENSP00000254853:A106T;ENSP00000443026:A106T;ENSP00000399979:A106T	ENSP00000254853:A106T	A	-	1	0	GPR172B	4878192	0.990000	0.36364	0.647000	0.29507	0.209000	0.24338	1.169000	0.31871	0.343000	0.23821	-0.229000	0.12294	GCA		0.627	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		T	4937468	C	T	4937468	3	4	362	1	0	0	0	0	1	0	0	0	6672	739	26	2	1042	2	GPR172B	17	4937468	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08		4937468	76257742	62	20467											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11648206	11648206	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:11648206G>T	ENST00000262442.4	+	31	6272	c.6204G>T	c.(6202-6204)caG>caT	p.Q2068H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2068H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2068					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.Q2068H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGAGGACCAGGTCCTGATGC	0.607																																																1	Substitution - Missense(1)	kidney(1)											63	56	59					17																	11648206		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6204G>T	17.37:g.11648206G>T	ENSP00000262442:p.Gln2068His		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497806	0.64186	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.27256	1.72;1.68	5.46	-5.7	0.02421	.	2.406600	0.01752	N	0.029979	T	0.50616	0.1626	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.64841	-0.6312	10	0.51188	T	0.08	.	17.8215	0.88652	0.2516:0.0:0.7484:0.0	.	2068	Q9NYC9	DYH9_HUMAN	H	2068;2068;650	ENSP00000262442:Q2068H;ENSP00000414874:Q2068H	ENSP00000262442:Q2068H	Q	+	3	2	DNAH9	11588931	0.883000	0.30277	0.893000	0.35052	0.986000	0.74619	-0.032000	0.12266	-1.212000	0.02620	-0.303000	0.09236	CAG		0.607	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11648206	G	T	11648206	3	4	362	1	0	0	0	0	1	0	0	0	4610	991	35	4	6326	4	DNAH9	17	11648206	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	6710738	11648206	69547004	63	20468											
TMUB2	79089	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42266747	42266747	+	Silent	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:42266747G>A	ENST00000587989.1	+	3	546	c.393G>A	c.(391-393)gaG>gaA	p.E131E	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000357984.3_Silent_p.E111E|TMUB2_ENST00000590235.1_Intron|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000589856.1_Silent_p.E111E|ASB16-AS1_ENST00000585457.1_RNA|TMUB2_ENST00000446571.3_Intron|TMUB2_ENST00000319511.6_Silent_p.E111E|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000589785.1_Silent_p.E111E|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000538716.2_Silent_p.E131E			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	131						integral component of membrane (GO:0016021)		p.E111E(1)|p.E131E(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTGGTGTTGAGCCCAGCCTTG	0.597																																																2	Substitution - coding silent(2)	kidney(2)											54	58	56					17																	42266747		2203	4300	6503	SO:0001819	synonymous_variant	79089				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.393G>A	17.37:g.42266747G>A			B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Silent	SNP	ENST00000587989.1	37	CCDS54134.1																																																																																				0.597	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		A	42266747	G	A	42266747	2	1	362	1	0	0	0	0	0	0	0	1	16270	962	34	2		2	TMUB2	17	42266747	Silent	SNP	G	TCGA-BP-4782-01A-02D-1421-08	30618541	42266747	38928463	64	20469											
CACNA1G	8913	broad.mit.edu;ucsc.edu	37	17	48703477	48703477	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:48703477T>A	ENST00000359106.5	+	38	6499	c.6499T>A	c.(6499-6501)Tac>Aac	p.Y2167N	CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y2081N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y2111N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y2067N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y2077N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y2074N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y2156N|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y2040N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y2033N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y2088N|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y2049N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y2104N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y2133N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y2017N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y2056N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y2063N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Y2040N|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y2029N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y2122N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y2096N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y2051N|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y2022N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2167					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.Y2167N(2)|p.Y2133N(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCCCGGGCCTACTCTTTCTG	0.662											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				3	Substitution - Missense(3)	kidney(3)											25	33	31					17																	48703477		2041	4168	6209	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6499T>A	17.37:g.48703477T>A	ENSP00000352011:p.Tyr2167Asn	956	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	t	7.863	0.726545	0.15439	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000359106;ENST00000429973;ENST00000515411	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96427	-3.9;-3.9;-3.85;-3.9;-3.91;-3.92;-4.01;-3.97;-3.98;-4.0;-3.87;-3.87;-3.95;-3.89;-3.85;-3.92;-3.89;-3.87;-3.92;-3.87;-3.93;-3.87	5.31	-3.58	0.04597	.	2.284100	0.02572	U	0.097877	D	0.89584	0.6757	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.14012	0.009;0.001;0.001;0.003;0.001;0.003;0.003;0.001;0.003;0.001;0.002;0.002;0.001;0.001;0.001;0.009;0.001;0.001;0.009;0.001;0.004;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.20384	0.013;0.01;0.01;0.017;0.01;0.013;0.017;0.01;0.017;0.023;0.017;0.013;0.01;0.01;0.01;0.029;0.01;0.005;0.013;0.007;0.008;0.005	T	0.81972	-0.0688	10	0.25751	T	0.34	.	2.8869	0.05664	0.1668:0.0723:0.2645:0.4964	.	2017;2029;2022;2104;2077;2049;2081;2040;2067;2096;2063;2156;2056;2111;2074;2144;2122;2040;2033;2088;2051;2167	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN	N	2051;2040;2133;2033;2096;2063;2029;2017;2022;2040;2122;2156;2077;2067;2088;2074;2049;2111;2081;2167;2056;2104	ENSP00000353990:Y2051N;ENSP00000339302:Y2040N;ENSP00000347078:Y2133N;ENSP00000409759:Y2033N;ENSP00000425522:Y2096N;ENSP00000426261:Y2063N;ENSP00000425451:Y2029N;ENSP00000422407:Y2017N;ENSP00000426814:Y2022N;ENSP00000427238:Y2040N;ENSP00000423112:Y2122N;ENSP00000420918:Y2156N;ENSP00000426172:Y2077N;ENSP00000423045:Y2067N;ENSP00000427173:Y2088N;ENSP00000426098:Y2074N;ENSP00000425698:Y2049N;ENSP00000426232:Y2111N;ENSP00000423317:Y2081N;ENSP00000352011:Y2167N;ENSP00000414388:Y2056N;ENSP00000423155:Y2104N	ENSP00000339302:Y2040N	Y	+	1	0	CACNA1G	46058476	0.029000	0.19370	0.556000	0.28293	0.888000	0.51559	0.219000	0.17641	-0.671000	0.05274	0.379000	0.24179	TAC		0.662	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		A	48703477	T	A	48703477	3	1	362	1	0	0	0	0	1	0	0	0	2546	1522	53	5	6916	5	CACNA1G	17	48703477	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	6436730	48703477	32491733	65	20470											
KIF2B	84643	hgsc.bcm.edu;ucsc.edu	37	17	51902361	51902361	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:51902361delA	ENST00000268919.4	+	1	2123	c.1967delA	c.(1966-1968)caafs	p.Q656fs		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	656					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCGAGATCCAAAAGAAACTG	0.458																																																0													88	86	87					17																	51902361		2203	4300	6503	SO:0001589	frameshift_variant	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1967delA	17.37:g.51902361delA	ENSP00000268919:p.Gln656fs		Q96MA2|Q9BXG6	Frame_Shift_Del	DEL	ENST00000268919.4	37	CCDS32685.1																																																																																				0.458	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		-	51902361	A	-	51902361	7	5	362	1	0	1	0	1	0	0	0	0	8300	130	5	0	1969	0	KIF2B	17	51902361	Frame_Shift_Del	DEL	A	TCGA-BP-4782-01A-02D-1421-08	3198884	51902361	29292849	66	20471											
UNK	85451	broad.mit.edu	37	17	73814863	73814863	+	Silent	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:73814863C>T	ENST00000589666.1	+	11	1622	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	RP11-552F3.4_ENST00000586808.1_RNA|UNK_ENST00000293218.3_Silent_p.F580F	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	504							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F580F(1)|p.F504F(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCTGCCCTTCTACCCCACCA	0.587																																																2	Substitution - coding silent(2)	kidney(2)											56	58	57					17																	73814863		2003	4172	6175	SO:0001819	synonymous_variant	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1512C>T	17.37:g.73814863C>T				Silent	SNP	ENST00000589666.1	37	CCDS45778.2																																																																																				0.587	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		T	73814863	C	T	73814863	2	4	362	1	0	0	0	0	0	0	0	1	17005	912	32	2		2	UNK	17	73814863	Silent	SNP	C	TCGA-BP-4782-01A-02D-1421-08	21912502	73814863	7380347	67	20472											
UNK	85451	hgsc.bcm.edu;ucsc.edu	37	17	73816152	73816152	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:73816152delC	ENST00000589666.1	+	13	1910	c.1800delC	c.(1798-1800)aacfs	p.N600fs	RP11-552F3.4_ENST00000586808.1_RNA|UNK_ENST00000293218.3_Frame_Shift_Del_p.N676fs	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	600							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGTCGGAAAACACATTTTTGG	0.587																																																0													77	81	80					17																	73816152		2040	4207	6247	SO:0001589	frameshift_variant	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1800delC	17.37:g.73816152delC	ENSP00000464893:p.Asn600fs			Frame_Shift_Del	DEL	ENST00000589666.1	37	CCDS45778.2																																																																																				0.587	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		-	73816152	C	-	73816152	7	5	362	1	0	1	0	1	0	0	0	0	17005	477	17	0	2082	0	UNK	17	73816152	Frame_Shift_Del	DEL	C	TCGA-BP-4782-01A-02D-1421-08	1289	73816152	7379058	68	20473											
QRICH2	84074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74276934	74276934	+	Missense_Mutation	SNP	C	C	T	rs564431023		TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:74276934C>T	ENST00000262765.5	-	9	4045	c.3866G>A	c.(3865-3867)cGg>cAg	p.R1289Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1289								p.R1289Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGTTTCTGCCGATGGTCCTC	0.622																																																1	Substitution - Missense(1)	kidney(1)											94	83	86					17																	74276934		2203	4300	6503	SO:0001583	missense	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3866G>A	17.37:g.74276934C>T	ENSP00000262765:p.Arg1289Gln		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146265	0.37923	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.46451	3.03;0.87	4.63	1.56	0.23342	.	.	.	.	.	T	0.23492	0.0568	N	0.20986	0.625	0.18873	N	0.999986	P;P	0.36249	0.545;0.545	B;B	0.29267	0.1;0.057	T	0.08166	-1.0735	9	0.36615	T	0.2	-20.2312	7.4806	0.27402	0.0:0.5723:0.0:0.4277	.	1289;1289	B5MD94;Q9H0J4	.;QRIC2_HUMAN	Q	1289;297;1289	ENSP00000262765:R1289Q;ENSP00000394461:R297Q	ENSP00000262765:R1289Q	R	-	2	0	QRICH2	71788529	0.000000	0.05858	0.988000	0.46212	0.922000	0.55478	-0.396000	0.07278	0.412000	0.25729	-0.136000	0.14681	CGG		0.622	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		T	74276934	C	T	74276934	3	4	362	1	0	0	0	0	1	0	0	0	12886	652	23	1	1169	1	QRICH2	17	74276934	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08	460782	74276934	6918276	69	20474											
APC2	10297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1461048	1461048	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr19:1461048A>G	ENST00000535453.1	+	12	3247	c.1534A>G	c.(1534-1536)Atc>Gtc	p.I512V	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.I512V|APC2_ENST00000238483.4_Missense_Mutation_p.I238V			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)	p.I512V(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGTCCAGCATCCTTCGGAA	0.642																																																1	Substitution - Missense(1)	kidney(1)											120	112	115					19																	1461048		2203	4300	6503	SO:0001583	missense	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1534A>G	19.37:g.1461048A>G	ENSP00000442954:p.Ile512Val		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	A	4.012	-0.000481	0.07819	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.64438	-0.1;0.78;-0.1	4.05	4.05	0.47172	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	N	0.01789	-0.72	0.39718	D	0.971438	D;D	0.61697	0.99;0.984	D;D	0.75484	0.986;0.967	T	0.52609	-0.8553	10	0.13108	T	0.6	-33.0742	11.9673	0.53042	1.0:0.0:0.0:0.0	.	511;512	O95996-3;O95996	.;APC2_HUMAN	V	512;238;512	ENSP00000233607:I512V;ENSP00000238483:I238V;ENSP00000442954:I512V	ENSP00000233607:I512V	I	+	1	0	APC2	1412048	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	3.163000	0.50763	1.703000	0.51240	0.459000	0.35465	ATC		0.642	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		G	1461048	A	G	1461048	3	3	362	1	0	0	0	0	1	0	0	0	764	217	8	3	1580	3	APC2	19	1461048	Missense_Mutation	SNP	A	TCGA-BP-4782-01A-02D-1421-08		1461048	57667935	70	20475											
CPAMD8	27151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17010350	17010350	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr19:17010350T>G	ENST00000443236.1	-	37	4956	c.4925A>C	c.(4924-4926)gAc>gCc	p.D1642A	CPAMD8_ENST00000597335.1_5'Flank	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1595						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D1642A(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATGTGCTTGTCAAGGAGCAG	0.577																																																1	Substitution - Missense(1)	kidney(1)											65	73	71					19																	17010350		2084	4225	6309	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4925A>C	19.37:g.17010350T>G	ENSP00000402505:p.Asp1642Ala		Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.01|18.01	3.527506|3.527506	0.64860|0.64860	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.88|2.88	1.84|1.84	0.25277|0.25277	Alpha-macroglobulin, receptor-binding (3);|.	0.542373|.	0.17729|.	U|.	0.163970|.	T|T	0.56978|0.56978	0.2022|0.2022	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	P|.	0.38280|.	0.625|.	B|.	0.39971|.	0.315|.	T|T	0.48479|0.48479	-0.9032|-0.9032	9|5	0.42905|.	T|.	0.14|.	.|.	7.7676|7.7676	0.28988|0.28988	0.0:0.1059:0.0:0.8941|0.0:0.1059:0.0:0.8941	.|.	1595|.	Q8IZJ3|.	CPMD8_HUMAN|.	A|P	1642|1653	.|.	ENSP00000291440:D1642A|.	D|T	-|-	2|1	0|0	CPAMD8|CPAMD8	16871350|16871350	1.000000|1.000000	0.71417|0.71417	0.247000|0.247000	0.24249|0.24249	0.858000|0.858000	0.48976|0.48976	4.101000|4.101000	0.57769|0.57769	0.194000|0.194000	0.20326|0.20326	0.444000|0.444000	0.29173|0.29173	GAC|ACA		0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		G	17010350	T	G	17010350	3	3	362	1	0	0	0	0	1	0	0	0	3797	1667	58	5	897	5	CPAMD8	19	17010350	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	15549302	17010350	42118633	71	20476											
TMEM143	55260	broad.mit.edu	37	19	48845836	48845836	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr19:48845836G>T	ENST00000293261.3	-	6	1242	c.926C>A	c.(925-927)tCc>tAc	p.S309Y	TMEM143_ENST00000436660.2_Missense_Mutation_p.S244Y|TMEM143_ENST00000435956.3_Missense_Mutation_p.S274Y|TMEM143_ENST00000541566.1_Missense_Mutation_p.S199Y|TMEM143_ENST00000377431.2_Missense_Mutation_p.S209Y	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	309					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S309Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CAGCAGCAGGGAGGTGGCCAC	0.667																																																1	Substitution - Missense(1)	kidney(1)											44	42	43					19																	48845836		2203	4300	6503	SO:0001583	missense	55260			AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.926C>A	19.37:g.48845836G>T	ENSP00000293261:p.Ser309Tyr		A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039645	0.55003	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.50813	0.73;0.76;0.76	4.45	4.45	0.53987	.	0.000000	0.56097	D	0.000025	T	0.61476	0.2350	L	0.54323	1.7	0.32568	N	0.53024	D;D;D;D	0.76494	0.999;0.998;0.989;0.998	D;D;D;D	0.71870	0.975;0.929;0.913;0.961	T	0.65113	-0.6247	10	0.22706	T	0.39	-14.3841	16.2957	0.82768	0.0:0.0:1.0:0.0	.	244;209;274;309	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	Y	309;209;274;244;199	ENSP00000293261:S309Y;ENSP00000397038:S274Y;ENSP00000444275:S199Y	ENSP00000293261:S309Y	S	-	2	0	TMEM143	53537648	1.000000	0.71417	0.984000	0.44739	0.933000	0.57130	3.125000	0.50469	2.197000	0.70478	0.456000	0.33151	TCC		0.667	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		T	48845836	G	T	48845836	3	4	362	1	0	0	0	0	1	0	0	0	16062	1174	41	4	465	4	TMEM143	19	48845836	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	31835486	48845836	10283147	72	20477											
MED25	81857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50322487	50322487	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr19:50322487C>G	ENST00000312865.6	+	3	292	c.239C>G	c.(238-240)tCc>tGc	p.S80C	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	80	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)	p.S80C(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCTCCCGAGTCCTACGTACAA	0.557																																					GBM(51;894 1657 37868)											2	Substitution - Missense(2)	kidney(2)											106	87	93					19																	50322487		2203	4300	6503	SO:0001583	missense	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.239C>G	19.37:g.50322487C>G	ENSP00000326767:p.Ser80Cys		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674545	0.88445	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000542221;ENST00000544580	T	0.78003	-1.14	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.80934	0.4719	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.81701	-0.0813	10	0.45353	T	0.12	.	18.3137	0.90210	0.0:1.0:0.0:0.0	.	80	Q71SY5	MED25_HUMAN	C	80	ENSP00000326767:S80C	ENSP00000326767:S80C	S	+	2	0	MED25	55014299	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.905000	0.75714	2.689000	0.91719	0.655000	0.94253	TCC		0.557	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		G	50322487	C	G	50322487	3	3	362	1	0	0	0	0	1	0	0	0	9445	855	30	4	249	4	MED25	19	50322487	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08	1476651	50322487	8806496	73	20478											
ZNF17	7565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57931180	57931180	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr19:57931180C>G	ENST00000601808.1	+	3	533	c.320C>G	c.(319-321)cCc>cGc	p.P107R	AC003002.6_ENST00000596400.1_Missense_Mutation_p.P119R|ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000307658.7_Missense_Mutation_p.P109R|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P107R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GGAACACACCCCAAGCGTACA	0.507																																					Melanoma(149;1637 1853 29914 42869 44988)											1	Substitution - Missense(1)	kidney(1)											129	127	127					19																	57931180		2203	4300	6503	SO:0001583	missense	7565			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.320C>G	19.37:g.57931180C>G	ENSP00000471905:p.Pro107Arg		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	C	1.422	-0.572512	0.03882	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.0	0.943	0.19531	.	.	.	.	.	T	0.24699	0.0599	L	0.37750	1.13	0.09310	N	1	P;B	0.34462	0.454;0.308	B;B	0.36244	0.22;0.061	T	0.18304	-1.0341	8	0.25106	T	0.35	.	4.6915	0.12783	0.0:0.8084:0.0:0.1916	.	109;107	P17021-2;P17021	.;ZNF17_HUMAN	R	107	.	ENSP00000302455:P107R	P	+	2	0	ZNF17	62622992	0.002000	0.14202	0.012000	0.15200	0.022000	0.10575	-0.047000	0.11963	0.399000	0.25367	-0.143000	0.13931	CCC		0.507	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		G	57931180	C	G	57931180	3	3	362	1	0	0	0	0	1	0	0	0	17748	623	22	4	330	4	ZNF17	19	57931180	Missense_Mutation	SNP	C	TCGA-BP-4782-01A-02D-1421-08	7608693	57931180	1197803	74	20479											
CD93	22918	broad.mit.edu;hgsc.bcm.edu	37	20	23066499	23066499	+	Silent	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr20:23066499G>A	ENST00000246006.4	-	1	478	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	111	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.L111L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGCCCTTCAGCGGCAGACTA	0.632																																																1	Substitution - coding silent(1)	kidney(1)											19	17	18					20																	23066499		2193	4292	6485	SO:0001819	synonymous_variant	22918			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.331C>T	20.37:g.23066499G>A			O00274	Silent	SNP	ENST00000246006.4	37	CCDS13149.1																																																																																				0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		A	23066499	G	A	23066499	2	1	362	1	0	0	0	0	0	0	0	1	3049	962	34	2		2	CD93	20	23066499	Silent	SNP	G	TCGA-BP-4782-01A-02D-1421-08		23066499	39959021	75	20480											
RBM39	9584	broad.mit.edu;hgsc.bcm.edu	37	20	34292611	34292611	+	Silent	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr20:34292611A>G	ENST00000253363.6	-	16	1494	c.1471T>C	c.(1471-1473)Ttg>Ctg	p.L491L	RBM39_ENST00000361162.6_Silent_p.L485L|RBM39_ENST00000407261.4_Silent_p.L334L|RBM39_ENST00000528062.3_Silent_p.L469L			Q14498	RBM39_HUMAN	RNA binding motif protein 39	491	Interaction with NCOA6. {ECO:0000250}.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L491L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTGCCATGCAATGCATTGACA	0.378																																																1	Substitution - coding silent(1)	kidney(1)											122	121	121					20																	34292611		2203	4300	6503	SO:0001819	synonymous_variant	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1471T>C	20.37:g.34292611A>G			A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Silent	SNP	ENST00000253363.6	37	CCDS13266.1																																																																																				0.378	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		G	34292611	A	G	34292611	2	3	362	1	0	0	0	0	0	0	0	1	13139	98	4	3		3	RBM39	20	34292611	Silent	SNP	A	TCGA-BP-4782-01A-02D-1421-08	11226112	34292611	28732909	76	20481											
SH3BGR	6450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	40834425	40834425	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr21:40834425A>G	ENST00000333634.4	+	2	437	c.359A>G	c.(358-360)aAa>aGa	p.K120R	SH3BGR_ENST00000380634.1_Missense_Mutation_p.K9R|SH3BGR_ENST00000458295.1_Missense_Mutation_p.K9R|SH3BGR_ENST00000380631.1_Missense_Mutation_p.K9R|SH3BGR_ENST00000380637.3_Missense_Mutation_p.K9R	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	120					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)	p.K120R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CCTGGAGAGAAAAAACCTCAA	0.423																																																1	Substitution - Missense(1)	kidney(1)											97	107	104					21																	40834425		2203	4300	6503	SO:0001583	missense	6450				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"21-glutamic acid-rich protein"	602230	"SH3 domain binding glutamic acid-rich protein"			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.359A>G	21.37:g.40834425A>G	ENSP00000332513:p.Lys120Arg		A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590120	0.46214	.	.	ENSG00000185437	ENST00000380637;ENST00000380634;ENST00000458295;ENST00000440288;ENST00000380631;ENST00000333634	T;T;T;T;T	0.50277	0.75;0.75;0.79;0.75;1.76	4.98	4.98	0.66077	Thioredoxin-like fold (2);	0.042650	0.85682	D	0.000000	T	0.43986	0.1272	L	0.31294	0.92	0.39367	D	0.96602	B	0.22604	0.072	B	0.36030	0.216	T	0.45056	-0.9287	10	0.45353	T	0.12	.	15.0028	0.71486	1.0:0.0:0.0:0.0	.	120	P55822	SH3BG_HUMAN	R	9;9;9;9;9;120	ENSP00000370011:K9R;ENSP00000370008:K9R;ENSP00000401572:K9R;ENSP00000370005:K9R;ENSP00000332513:K120R	ENSP00000332513:K120R	K	+	2	0	SH3BGR	39756295	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.679000	0.54634	2.008000	0.58898	0.533000	0.62120	AAA		0.423	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		G	40834425	A	G	40834425	3	3	362	1	0	0	0	0	1	0	0	0	14246	14	1	3	365	3	SH3BGR	21	40834425	Missense_Mutation	SNP	A	TCGA-BP-4782-01A-02D-1421-08		40834425	7295470	77	20482											
RIPK4	54101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	43164104	43164104	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr21:43164104T>A	ENST00000352483.2	-	8	1341	c.1277A>T	c.(1276-1278)gAc>gTc	p.D426V	RIPK4_ENST00000332512.3_Missense_Mutation_p.D378V|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Missense_Mutation_p.D315V|RIPK4_ENST00000544709.1_Missense_Mutation_p.D315V			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	426		Cleavage.			morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D426V(1)|p.D378V(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAAGGCGGAGTCCACCGAGGA	0.647																																																2	Substitution - Missense(2)	kidney(2)											68	62	64					21																	43164104		2203	4300	6503	SO:0001583	missense	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1277A>T	21.37:g.43164104T>A	ENSP00000330161:p.Asp426Val		Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37		.	.	.	.	.	.	.	.	.	.	T	21.7	4.193145	0.78902	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.78595	-0.98;-1.02;-1.19;-1.19	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000005	T	0.76807	0.4039	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82248	-0.0551	10	0.72032	D	0.01	-48.2349	14.1164	0.65156	0.0:0.0:0.0:1.0	.	378	P57078-2	.	V	378;426;315;315;117	ENSP00000332454:D378V;ENSP00000330161:D426V;ENSP00000441754:D315V;ENSP00000442901:D315V	ENSP00000330975:D117V	D	-	2	0	RIPK4	42037173	1.000000	0.71417	0.966000	0.40874	0.781000	0.44180	5.659000	0.68010	1.924000	0.55735	0.533000	0.62120	GAC		0.647	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		A	43164104	T	A	43164104	3	1	362	1	0	0	0	0	1	0	0	0	13389	1667	58	5	1229	5	RIPK4	21	43164104	Missense_Mutation	SNP	T	TCGA-BP-4782-01A-02D-1421-08	2329679	43164104	4965791	78	20483											
PRAME	23532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	22890580	22890580	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr22:22890580A>G	ENST00000398741.1	-	6	1745	c.1439T>C	c.(1438-1440)gTc>gCc	p.V480A	PRAME_ENST00000402697.1_Missense_Mutation_p.V480A|PRAME_ENST00000543184.1_Missense_Mutation_p.V480A|PRAME_ENST00000398743.2_Missense_Mutation_p.V480A|PRAME_ENST00000424204.2_Missense_Mutation_p.V464A|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000405655.3_Missense_Mutation_p.V480A|PRAME_ENST00000539862.1_Missense_Mutation_p.V464A	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	480	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|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)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.V480A(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACTAAGCCAGACCATGCTGGG	0.582																																					Melanoma(73;1707 1838 15168 27201)											1	Substitution - Missense(1)	kidney(1)											111	104	107					22																	22890580		2203	4300	6503	SO:0001583	missense	23532			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"-"	9336	protein-coding gene	gene with protein product	"cancer/testis antigen 130"	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1439T>C	22.37:g.22890580A>G	ENSP00000381726:p.Val480Ala		B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	A	7.765	0.706220	0.15239	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	3.68	0.234	0.15390	.	0.420400	0.21226	N	0.078078	T	0.45135	0.1327	M	0.82823	2.61	0.09310	N	1	P	0.36789	0.57	B	0.38458	0.274	T	0.47058	-0.9146	10	0.87932	D	0	.	2.6963	0.05136	0.5991:0.0:0.2009:0.1999	.	480	P78395	PRAME_HUMAN	A	480;480;480;480;464;480;464	ENSP00000381728:V480A;ENSP00000445675:V480A;ENSP00000381726:V480A;ENSP00000384343:V480A;ENSP00000445097:V464A;ENSP00000385198:V480A;ENSP00000407342:V464A	ENSP00000381726:V480A	V	-	2	0	PRAME	21220580	0.986000	0.35501	0.025000	0.17156	0.017000	0.09413	3.524000	0.53495	-0.027000	0.13873	0.523000	0.50628	GTC		0.582	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		G	22890580	A	G	22890580	3	3	362	1	0	0	0	0	1	0	0	0	12429	275	10	3	94	3	PRAME	22	22890580	Missense_Mutation	SNP	A	TCGA-BP-4782-01A-02D-1421-08		22890580	28413986	79	20484											
APOBEC3F	200316	broad.mit.edu;hgsc.bcm.edu	37	22	39441014	39441014	+	Silent	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr22:39441014T>A	ENST00000308521.5	+	3	597	c.240T>A	c.(238-240)ccT>ccA	p.P80P	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	80	CMP/dCMP deaminase zinc-binding 1.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P80P(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ACCAGCTGCCTGCTTACAAGT	0.582																																																1	Substitution - coding silent(1)	kidney(1)											97	76	83					22																	39441014		2203	4297	6500	SO:0001819	synonymous_variant	200316			BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.240T>A	22.37:g.39441014T>A			B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	CCDS33648.1																																																																																				0.582	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		A	39441014	T	A	39441014	2	1	362	1	0	0	0	0	0	0	0	1	793	1567	55	5		5	APOBEC3F	22	39441014	Silent	SNP	T	TCGA-BP-4782-01A-02D-1421-08	16550434	39441014	11863552	80	20485											
CDKL5	6792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	18622979	18622979	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:18622979G>C	ENST00000379989.3	+	13	2220	c.1935G>C	c.(1933-1935)ttG>ttC	p.L645F	CDKL5_ENST00000379996.3_Missense_Mutation_p.L645F|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	645					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.L645F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGCAACTCTTGTCACCCCAGG	0.532																																																1	Substitution - Missense(1)	kidney(1)											150	135	140					X																	18622979		2203	4300	6503	SO:0001583	missense	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1935G>C	X.37:g.18622979G>C	ENSP00000369325:p.Leu645Phe		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481952	0.44147	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.80909	-1.43;-1.43	5.83	3.11	0.35812	.	0.064922	0.64402	D	0.000007	T	0.75946	0.3919	L	0.36672	1.1	0.33977	D	0.647535	P	0.52577	0.954	P	0.49637	0.617	T	0.79650	-0.1715	10	0.87932	D	0	-4.3291	7.9369	0.29935	0.7848:0.0:0.2152:0.0	.	645	O76039	CDKL5_HUMAN	F	645	ENSP00000369332:L645F;ENSP00000369325:L645F	ENSP00000369325:L645F	L	+	3	2	CDKL5	18532900	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.071000	0.30666	0.198000	0.20407	-0.380000	0.06706	TTG		0.532	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		C	18622979	G	C	18622979	3	2	362	1	0	0	0	0	1	0	0	0	3159	1368	48	4	1977	4	CDKL5	23	18622979	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08		18622979	136647581	81	20486											
NHSL2	340527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	71359245	71359245	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:71359245A>C	ENST00000373677.1	+	2	2011	c.749A>C	c.(748-750)gAt>gCt	p.D250A	NHSL2_ENST00000535692.1_Missense_Mutation_p.D250A|NHSL2_ENST00000510661.1_Missense_Mutation_p.D385A|NHSL2_ENST00000540800.1_Missense_Mutation_p.D616A			Q5HYW2	NHSL2_HUMAN	NHS-like 2	250								p.D616A(1)|p.D247A(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCCACCCAGATGCTCAGGGT	0.532																																																2	Substitution - Missense(2)	kidney(2)											132	97	109					X																	71359245		2203	4300	6503	SO:0001583	missense	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.749A>C	X.37:g.71359245A>C	ENSP00000362781:p.Asp250Ala		B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	A	10.12	1.262930	0.23051	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.53206	1.26;0.66;0.63;0.66	5.39	5.39	0.77823	.	0.197595	0.44483	D	0.000459	T	0.61198	0.2328	L	0.56769	1.78	0.48040	D	0.999572	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66979	0.948;0.948;0.948	T	0.59473	-0.7448	10	0.33141	T	0.24	-9.8643	12.2398	0.54536	1.0:0.0:0.0:0.0	.	616;385;250	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	A	616;250;385;250	ENSP00000444617:D616A;ENSP00000362781:D250A;ENSP00000424079:D385A;ENSP00000444914:D250A	ENSP00000362781:D250A	D	+	2	0	NHSL2	71275970	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	3.563000	0.53784	1.795000	0.52594	0.486000	0.48141	GAT		0.532	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		C	71359245	A	C	71359245	3	2	362	1	0	0	0	0	1	0	0	0	10414	333	12	5	1869	5	NHSL2	23	71359245	Missense_Mutation	SNP	A	TCGA-BP-4782-01A-02D-1421-08	52736266	71359245	83911315	82	20487											
FAM46D	169966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	79698411	79698411	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:79698411A>T	ENST00000308293.5	+	3	612	c.373A>T	c.(373-375)Atc>Ttc	p.I125F	FAM46D_ENST00000538312.1_Missense_Mutation_p.I125F	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	125								p.I125F(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CTCCCCAGATATCATGAAAGA	0.383																																																1	Substitution - Missense(1)	kidney(1)											105	101	102					X																	79698411		2203	4299	6502	SO:0001583	missense	169966			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"cancer/testis antigen 112"					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.373A>T	X.37:g.79698411A>T	ENSP00000308575:p.Ile125Phe		B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239618	0.22711	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.22539	1.95;1.95	4.27	3.02	0.34903	Domain of unknown function DUF1693 (1);	0.180912	0.48286	D	0.000193	T	0.19366	0.0465	N	0.22421	0.69	0.23186	N	0.998155	P	0.35821	0.523	P	0.45377	0.478	T	0.11179	-1.0598	10	0.87932	D	0	-0.0058	9.1703	0.37076	0.8202:0.1798:0.0:0.0	.	125	Q8NEK8	FA46D_HUMAN	F	125	ENSP00000443410:I125F;ENSP00000308575:I125F	ENSP00000308575:I125F	I	+	1	0	FAM46D	79585067	0.249000	0.23941	0.051000	0.19133	0.001000	0.01503	4.596000	0.61055	1.579000	0.49836	0.437000	0.28790	ATC		0.383	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		T	79698411	A	T	79698411	3	4	362	1	0	0	0	0	1	0	0	0	5570	449	16	5	375	5	FAM46D	23	79698411	Missense_Mutation	SNP	A	TCGA-BP-4782-01A-02D-1421-08	8339166	79698411	75572149	83	20488											
ALG13	79868	hgsc.bcm.edu;ucsc.edu	37	X	110951455	110951455	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:110951455delT	ENST00000394780.3	+	4	596	c.584delT	c.(583-585)ctcfs	p.L195fs	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Frame_Shift_Del_p.L91fs	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	195	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TTTTTTCCTCTCCCTCTTACC	0.473																																																0													122	102	108					X																	110951455		1568	3582	5150	SO:0001589	frameshift_variant	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.584delT	X.37:g.110951455delT	ENSP00000378260:p.Leu195fs		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Frame_Shift_Del	DEL	ENST00000394780.3	37	CCDS55477.1																																																																																				0.473	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		-	110951455	T	-	110951455	7	5	362	1	0	1	0	1	0	0	0	0	515	1551	54	0	740	0	ALG13	23	110951455	Frame_Shift_Del	DEL	T	TCGA-BP-4782-01A-02D-1421-08	31253044	110951455	44319105	84	20489											
NKAP	79576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	119077352	119077352	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:119077352G>T	ENST00000371410.3	-	1	383	c.217C>A	c.(217-219)Cgc>Agc	p.R73S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	73	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R73S(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GAGCGTGAGCGGTAGGACTGG	0.667																																																1	Substitution - Missense(1)	kidney(1)											34	36	35					X																	119077352		2203	4300	6503	SO:0001583	missense	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.217C>A	X.37:g.119077352G>T	ENSP00000360464:p.Arg73Ser		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	g	10.88	1.474652	0.26511	.	.	ENSG00000101882	ENST00000371410	T	0.17370	2.28	3.81	1.05	0.20165	.	0.335779	0.29139	N	0.013037	T	0.07188	0.0182	N	0.22421	0.69	0.41741	D	0.989614	P	0.43024	0.798	B	0.34590	0.186	T	0.42531	-0.9446	10	0.21014	T	0.42	-3.0177	4.1722	0.10334	0.2141:0.0:0.6026:0.1834	.	73	Q8N5F7	NKAP_HUMAN	S	73	ENSP00000360464:R73S	ENSP00000360464:R73S	R	-	1	0	NKAP	118961380	0.863000	0.29885	0.925000	0.36789	0.290000	0.27261	0.081000	0.14823	0.097000	0.17492	0.544000	0.68410	CGC		0.667	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		T	119077352	G	T	119077352	3	4	362	1	0	0	0	0	1	0	0	0	10441	1116	39	4	1066	4	NKAP	23	119077352	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	8125897	119077352	36193208	85	20490											
CUL4B	8450	broad.mit.edu;ucsc.edu	37	X	119694026	119694026	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:119694026G>T	ENST00000404115.3	-	3	923	c.522C>A	c.(520-522)aaC>aaA	p.N174K	CUL4B_ENST00000336592.6_Missense_Mutation_p.N161K|CUL4B_ENST00000371322.5_Missense_Mutation_p.N156K	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	174	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.N174K(1)|p.N156K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCTAGGCCGTTTGCATGAT	0.448																																																2	Substitution - Missense(2)	kidney(2)											112	103	106					X																	119694026		2203	4300	6503	SO:0001583	missense	8450			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.522C>A	X.37:g.119694026G>T	ENSP00000384109:p.Asn174Lys		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892570	0.52121	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.68765	-0.34;-0.34;-0.35	5.4	1.63	0.23807	.	0.198344	0.51477	D	0.000083	T	0.72503	0.3468	L	0.55990	1.75	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.68345	-0.5433	9	.	.	.	-14.0422	6.9502	0.24540	0.5509:0.0:0.4491:0.0	.	174;156	Q13620;Q13620-1	CUL4B_HUMAN;.	K	156;161;174	ENSP00000360373:N156K;ENSP00000338919:N161K;ENSP00000384109:N174K	.	N	-	3	2	CUL4B	119578054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.258000	0.43249	0.487000	0.27698	0.436000	0.28706	AAC		0.448	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		T	119694026	G	T	119694026	3	4	362	1	0	0	0	0	1	0	0	0	4060	1136	40	4	2299	4	CUL4B	23	119694026	Missense_Mutation	SNP	G	TCGA-BP-4782-01A-02D-1421-08	616674	119694026	35576534	86	20491											
VHL	7428	hgsc.bcm.edu	37	3	10183871	10183871	+	Splice_Site	SNP	G	G	C			TCGA-BP-4782-01A-02D-2099-10	TCGA-BP-4782-11A-01W-1476-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq	.		PacBio RS	ec9b5e3e-36a9-4533-a621-1b4864773544	ecaca359-731a-46a3-99dd-6e34d91ccb13	g.chr3:10183871G>C	ENST00000256474.2	+	1	1180	c.340G>C	c.(340-342)Ggt>Cgt	p.G114R	VHL_ENST00000345392.2_Splice_Site_p.V114L|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	114	Involved in binding to CCT complex.		G -> C (in VHLD; type II). {ECO:0000269|PubMed:8956040}.|G -> R (in VHLD; type I-II).|G -> S (in VHLD; type II). {ECO:0000269|PubMed:8825918}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G114C(5)|p.G114R(4)|p.G114S(2)|p.Y112fs*1(2)|p.G114fs*45(1)|p.?(1)|p.S111fs*45(1)|p.G114fs*17(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAGCTACCGAGGTACGGGCCC	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Substitution - Missense(11)|Deletion - Frameshift(5)|Unknown(1)	kidney(17)	GRCh37	CM044739|CM941372|CM951284	VHL	M							10	11	10					3																	10183871		1848	3825	5673	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.340+1G>C	3.37:g.10183871G>C			B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.307241|5.307241	0.95629|0.95629	.|.	.|.	ENSG00000134086|ENSG00000134086	ENST00000256474;ENST00000450183|ENST00000345392	D|D	0.99857|0.99803	-7.22|-6.82	5.08|5.08	5.08|5.08	0.68730|0.68730	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.99616|0.99616	0.9860|0.9860	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999994|0.999994	D|D	0.89917|0.61697	1.0|0.99	D|D	0.97110|0.72625	1.0|0.978	D|D	0.97682|0.97682	1.0173|1.0173	10|9	0.46703|0.62326	T|D	0.11|0.03	-8.0737|-8.0737	16.0436|16.0436	0.80701|0.80701	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	114|114	P40337|P40337-2	VHL_HUMAN|.	R|L	114;32|114	ENSP00000256474:G114R|ENSP00000344757:V114L	ENSP00000256474:G114R|ENSP00000344757:V114L	G|V	+|+	1|1	0|0	VHL|VHL	10158871|10158871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	4.377000|4.377000	0.59562|0.59562	2.377000|2.377000	0.81083|0.81083	0.479000|0.479000	0.44913|0.44913	GGT|GTG		0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Missense_Mutation	C	10183871	G	C	10183871	5	2	363	1	0	0	0	0	0	0	1	0	17167	1014	35	4	342	4	VHL	3	10183871	Splice_Site	SNP	G	TCGA-BP-4782-01A-02D-2099-10		10183871	187838559	1	20492											
CSMD2	114784	hgsc.bcm.edu	37	1	34191120	34191120	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr1:34191120T>C	ENST00000373381.4	-	17	2701	c.2525A>G	c.(2524-2526)aAc>aGc	p.N842S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	802	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTGTCATAGTTGACCTCGGT	0.507																																																0													77	83	81					1																	34191120		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2525A>G	1.37:g.34191120T>C	ENSP00000362479:p.Asn842Ser		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	T	15.32	2.797458	0.50208	.	.	ENSG00000121904	ENST00000373381	T	0.17528	2.27	5.89	5.89	0.94794	CUB (5);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	N	0.25031	0.7	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.85130	0.997;0.971	T	0.03534	-1.1027	10	0.34782	T	0.22	.	15.497	0.75662	0.0:0.0:0.0:1.0	.	802;842	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	842	ENSP00000362479:N842S	ENSP00000241312:N802S	N	-	2	0	CSMD2	33963707	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	8.018000	0.88722	2.254000	0.74563	0.533000	0.62120	AAC		0.507	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		C	34191120	T	C	34191120	3	2	364	1	0	0	0	0	1	0	0	0	3947	1725	60	3	8270	3	CSMD2	1	34191120	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10		34191120	215059501	1	20493											
ST7L	54879	hgsc.bcm.edu	37	1	113084576	113084576	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr1:113084576T>G	ENST00000358039.4	-	14	1930	c.1626A>C	c.(1624-1626)aaA>aaC	p.K542N	ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Missense_Mutation_p.K542N|ST7L_ENST00000544629.1_Missense_Mutation_p.K477N|ST7L_ENST00000343210.7_Missense_Mutation_p.K542N|ST7L_ENST00000538187.1_Missense_Mutation_p.K486N|ST7L_ENST00000369669.1_Missense_Mutation_p.K359N|ST7L_ENST00000369666.1_Missense_Mutation_p.K525N|ST7L_ENST00000490067.1_Missense_Mutation_p.K525N|ST7L_ENST00000360743.4_Missense_Mutation_p.K511N	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	542					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTTACAGCTTTAGCAAAAA	0.393																																																0													92	87	89					1																	113084576		2203	4300	6503	SO:0001583	missense	54879			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1626A>C	1.37:g.113084576T>G	ENSP00000350734:p.Lys542Asn		A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	CCDS848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.71|16.71	3.198317|3.198317	0.58126|0.58126	.|.	.|.	ENSG00000007341|ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187|ENST00000418497	T;T;T;T;T;T;T;T;T|T	0.23147|0.27256	1.92;2.31;1.92;1.92;1.92;1.92;1.92;1.92;1.92|1.68	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	0.154564|0.154564	0.64402|0.64402	D|D	0.000018|0.000018	T|T	0.33527|0.33527	0.0866|0.0866	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;B;D;D;P;P;B|.	0.89917|.	1.0;1.0;0.389;0.996;0.997;0.691;0.582;0.345|.	D;D;B;D;D;B;B;B|.	0.91635|.	0.999;0.998;0.198;0.944;0.962;0.317;0.251;0.236|.	T|T	0.26224|0.26224	-1.0109|-1.0109	10|8	0.48119|0.87932	T|D	0.1|0	-23.6545|-23.6545	10.5265|10.5265	0.44952|0.44952	0.0:0.0725:0.0:0.9275|0.0:0.0725:0.0:0.9275	.|.	486;477;477;542;525;525;511;542|.	B7Z7D4;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4|.	.;.;.;.;.;.;.;ST7L_HUMAN|.	N|T	542;511;292;477;359;525;542;542;525;486|286	ENSP00000350734:K542N;ENSP00000353972:K511N;ENSP00000445499:K477N;ENSP00000358683:K359N;ENSP00000417140:K525N;ENSP00000358682:K542N;ENSP00000345312:K542N;ENSP00000358680:K525N;ENSP00000444021:K486N|ENSP00000413718:K286T	ENSP00000345312:K542N|ENSP00000413718:K286T	K|K	-|-	3|2	2|0	ST7L|ST7L	112886099|112886099	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.905000|2.905000	0.48727|0.48727	2.299000|2.299000	0.77371|0.77371	0.533000|0.533000	0.62120|0.62120	AAA|AAG		0.393	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			G	113084576	T	G	113084576	3	3	364	1	0	0	0	0	1	0	0	0	15235	1606	56	5	148	5	ST7L	1	113084576	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10	78893456	113084576	136166045	2	20494											
CASQ1	844	hgsc.bcm.edu;ucsc.edu	37	1	160167358	160167358	+	Splice_Site	SNP	G	G	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr1:160167358G>C	ENST00000368078.3	+	7	978		c.e7-1		CASQ1_ENST00000467691.1_5'Flank|CASQ1_ENST00000368079.3_Splice_Site			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)						endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCTCTTCTAGATCAACCCTG	0.572																																																0													122	118	120					1																	160167358		2203	4300	6503	SO:0001630	splice_region_variant	844			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"Protein disulfide isomerases"	1512	protein-coding gene	gene with protein product	"calsequestrin 1, fast-twitch, skeletal muscle", "calmitine"	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.783-1G>C	1.37:g.160167358G>C			B1AKZ2|B2R863|Q8TBW7	Splice_Site	SNP	ENST00000368078.3	37	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506234	0.64410	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2627	0.87075	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASQ1	158433982	1.000000	0.71417	0.964000	0.40570	0.751000	0.42716	7.153000	0.77428	2.369000	0.80426	0.655000	0.94253	.		0.572	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231	Intron	C	160167358	G	C	160167358	5	2	364	1	0	0	0	0	0	0	1	0	2682	956	33	4	808	4	CASQ1	1	160167358	Splice_Site	SNP	G	TCGA-BP-4787-01A-01D-1373-10	47082782	160167358	89083263	3	20495											
LMX1A	4009	hgsc.bcm.edu	37	1	165183037	165183037	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr1:165183037A>C	ENST00000342310.3	-	5	892	c.510T>G	c.(508-510)gaT>gaG	p.D170E	LMX1A_ENST00000294816.2_Missense_Mutation_p.D170E|RP11-38C18.3_ENST00000441773.1_RNA|LMX1A_ENST00000367893.4_Missense_Mutation_p.D170E|LMX1A_ENST00000489443.2_5'Flank|RP11-38C18.2_ENST00000457106.1_RNA	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	170					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GACTTTCTTCATCATCACTTT	0.493																																																0													144	134	137					1																	165183037		2203	4300	6503	SO:0001583	missense	4009			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.510T>G	1.37:g.165183037A>C	ENSP00000340226:p.Asp170Glu		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038581	0.75617	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.87334	-2.24;-2.24;-2.24	5.65	5.65	0.86999	.	0.109197	0.64402	D	0.000003	T	0.75686	0.3883	L	0.52011	1.625	0.47547	D	0.999450	B	0.19200	0.034	B	0.21917	0.037	T	0.72184	-0.4367	9	0.16420	T	0.52	.	15.5389	0.76024	1.0:0.0:0.0:0.0	.	170	Q8TE12	LMX1A_HUMAN	E	170	ENSP00000340226:D170E;ENSP00000294816:D170E;ENSP00000356868:D170E	ENSP00000294816:D170E	D	-	3	2	LMX1A	163449661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.937000	0.56575	2.135000	0.66039	0.533000	0.62120	GAT		0.493	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		C	165183037	A	C	165183037	3	2	364	1	0	0	0	0	1	0	0	0	8863	214	8	5	658	5	LMX1A	1	165183037	Missense_Mutation	SNP	A	TCGA-BP-4787-01A-01D-1373-10	5015679	165183037	84067584	4	20496											
GREB1	9687	hgsc.bcm.edu	37	2	11702633	11702633	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:11702633G>A	ENST00000381486.2	+	3	502	c.202G>A	c.(202-204)Gga>Aga	p.G68R	RNU2-13P_ENST00000515909.1_RNA|GREB1_ENST00000234142.5_Missense_Mutation_p.G68R|GREB1_ENST00000381483.2_Missense_Mutation_p.G68R|RNA5SP85_ENST00000365378.1_RNA|GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000263834.5_Missense_Mutation_p.G68R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	68						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAGGGAGAAGGAGGGCTGGA	0.577																																					Ovarian(39;850 945 2785 23371 33093)											0													147	124	132					2																	11702633		2203	4300	6503	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.202G>A	2.37:g.11702633G>A	ENSP00000370896:p.Gly68Arg		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109085	0.77096	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.17054	3.3;2.3;2.3;3.3	5.36	4.48	0.54585	.	0.269693	0.35708	N	0.003025	T	0.24044	0.0582	L	0.43152	1.355	0.42331	D	0.99229	P;P;P	0.49783	0.867;0.928;0.773	P;P;B	0.50537	0.643;0.626;0.232	T	0.01553	-1.1326	10	0.62326	D	0.03	-34.1067	13.6759	0.62454	0.0754:0.0:0.9246:0.0	.	68;68;68	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	R	68	ENSP00000370896:G68R;ENSP00000263834:G68R;ENSP00000370892:G68R;ENSP00000234142:G68R	ENSP00000234142:G68R	G	+	1	0	GREB1	11620084	1.000000	0.71417	0.542000	0.28115	0.984000	0.73092	6.516000	0.73755	1.272000	0.44329	0.555000	0.69702	GGA		0.577	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11702633	G	A	11702633	3	1	364	1	0	0	0	0	1	0	0	0	6762	1001	35	2	208	2	GREB1	2	11702633	Missense_Mutation	SNP	G	TCGA-BP-4787-01A-01D-1373-10		11702633	231496740	5	20497											
HEATR5B	54497	hgsc.bcm.edu	37	2	37283587	37283587	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:37283587G>A	ENST00000233099.5	-	16	2490	c.2395C>T	c.(2395-2397)Cac>Tac	p.H799Y	HEATR5B_ENST00000354531.2_Missense_Mutation_p.H799Y	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	799						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACTAACCGGTGTTTATAAGAA	0.383																																																0													58	63	61					2																	37283587		2201	4300	6501	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2395C>T	2.37:g.37283587G>A	ENSP00000233099:p.His799Tyr		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.762925	0.69763	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.06933	3.24;3.24	5.35	5.35	0.76521	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	M	0.66506	2.035	0.80722	D	1	B	0.17268	0.021	B	0.26770	0.073	T	0.17077	-1.0381	10	0.02654	T	1	.	19.0585	0.93076	0.0:0.0:1.0:0.0	.	799	Q9P2D3	HTR5B_HUMAN	Y	799	ENSP00000233099:H799Y;ENSP00000346531:H799Y	ENSP00000233099:H799Y	H	-	1	0	HEATR5B	37137091	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.812000	0.99227	2.512000	0.84698	0.591000	0.81541	CAC		0.383	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		A	37283587	G	A	37283587	3	1	364	1	0	0	0	0	1	0	0	0	7034	1377	48	2	3904	2	HEATR5B	2	37283587	Missense_Mutation	SNP	G	TCGA-BP-4787-01A-01D-1373-10	25580954	37283587	205915786	6	20498											
FBXO11	80204	hgsc.bcm.edu	37	2	48040362	48040364	+	Intron	DEL	AAC	AAC	-	rs539613927		TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:48040362_48040364delAAC	ENST00000403359.3	-	18	2300				FBXO11_ENST00000316377.4_Intron|FBXO11_ENST00000434523.2_Intron|FBXO11_ENST00000402508.1_Intron	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11						cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGCAAAATTAACAACAATACCT	0.325			"Mis, F, D"		DLBCL																																		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)							,	22,4244		9,4,2120					,	3.8	1			132	39,8215		19,1,4107	no	intron,intron	FBXO11	NM_025133.4,NM_001190274.1	,	28,5,6227	A1A1,A1R,RR		0.4725,0.5157,0.4872	,	,		61,12459				SO:0001627	intron_variant	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2227+8GTT>-	2.37:g.48040365_48040367delAAC			A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	In_Frame_Del	DEL	ENST00000403359.3	37	CCDS54357.1																																																																																				0.325	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		-	48040364	AAC	-	48040362	6	5	364	0	1	1	0	1	0	0	0	0	5729	349	13	0		0	FBXO11	2	48040362	Intron	DEL	AAC	TCGA-BP-4787-01A-01D-1373-10	10756775	48040362	195159011	7	20499											
SUCLG1	8802	hgsc.bcm.edu	37	2	84652567	84652567	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:84652567G>T	ENST00000393868.2	-	8	1196	c.986C>A	c.(985-987)cCt>cAt	p.P329H	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	329					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CAGCTGTGCAGGAGACATACT	0.537																																					Ovarian(48;203 1101 37206 40305 50790)											0													104	92	96					2																	84652567		2203	4300	6503	SO:0001583	missense	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.986C>A	2.37:g.84652567G>T	ENSP00000377446:p.Pro329His		Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944634	0.92593	.	.	ENSG00000163541	ENST00000393868	D	0.85088	-1.94	5.79	5.79	0.91817	Succinyl-CoA synthetase-like (2);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97577	1.0108	10	0.72032	D	0.01	2.0501	17.5309	0.87814	0.0:0.0:1.0:0.0	.	329	P53597	SUCA_HUMAN	H	329	ENSP00000377446:P329H	ENSP00000377446:P329H	P	-	2	0	SUCLG1	84506078	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	9.869000	0.99810	2.734000	0.93682	0.655000	0.94253	CCT		0.537	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		T	84652567	G	T	84652567	3	4	364	1	0	0	0	0	1	0	0	0	15369	1000	35	4	62	4	SUCLG1	2	84652567	Missense_Mutation	SNP	G	TCGA-BP-4787-01A-01D-1373-10	36612205	84652567	158546806	8	20500											
CERKL	375298	hgsc.bcm.edu	37	2	182403925	182403925	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:182403925C>T	ENST00000339098.5	-	13	1509	c.1510G>A	c.(1510-1512)Ggt>Agt	p.G504S	CERKL_ENST00000410087.3_Missense_Mutation_p.G478S|CERKL_ENST00000409440.3_Missense_Mutation_p.G460S|CERKL_ENST00000374969.2_Missense_Mutation_p.G365S|CERKL_ENST00000374970.2_Missense_Mutation_p.G409S			Q49MI3	CERKL_HUMAN	ceramide kinase-like	504					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTATATCCACCAGTATTATTC	0.353																																																0													119	116	117					2																	182403925		2203	4300	6503	SO:0001583	missense	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1510G>A	2.37:g.182403925C>T	ENSP00000341159:p.Gly504Ser		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	1.706	-0.500295	0.04291	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.30182	2.25;2.56;1.56;2.52;1.54	5.23	-0.104	0.13605	.	1.238440	0.05128	N	0.492084	T	0.11580	0.0282	N	0.01352	-0.895	0.09310	N	1	B;B;B;B;B	0.22003	0.002;0.063;0.001;0.0;0.002	B;B;B;B;B	0.19946	0.002;0.027;0.002;0.003;0.002	T	0.27468	-1.0073	10	0.21014	T	0.42	.	8.6039	0.33762	0.0:0.2984:0.0:0.7016	.	460;365;409;478;504	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	S	478;460;365;504;409	ENSP00000386725:G478S;ENSP00000387080:G460S;ENSP00000364108:G365S;ENSP00000341159:G504S;ENSP00000364109:G409S	ENSP00000341159:G504S	G	-	1	0	CERKL	182112170	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.389000	0.20751	-0.047000	0.13423	-0.311000	0.09066	GGT		0.353	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			T	182403925	C	T	182403925	3	4	364	1	0	0	0	0	1	0	0	0	3270	594	21	2	174	2	CERKL	2	182403925	Missense_Mutation	SNP	C	TCGA-BP-4787-01A-01D-1373-10	97751358	182403925	60795448	9	20501											
NBEAL1	65065	hgsc.bcm.edu	37	2	204039911	204039911	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:204039911T>A	ENST00000449802.1	+	41	6611	c.6278T>A	c.(6277-6279)tTt>tAt	p.F2093Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2093	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATTGATAAGTTTCACTATGGT	0.398																																																0													96	95	95					2																	204039911		1825	4072	5897	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6278T>A	2.37:g.204039911T>A	ENSP00000399903:p.Phe2093Tyr		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	T	34	5.373890	0.95923	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.80393	-1.37;-1.37	5.92	5.92	0.95590	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.88115	0.6350	M	0.62016	1.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87529	0.2451	10	0.42905	T	0.14	.	16.0292	0.80564	0.0:0.0:0.0:1.0	.	2093;2082	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Y	2093;2093;108	ENSP00000399903:F2093Y;ENSP00000388466:F108Y	ENSP00000344985:F2093Y	F	+	2	0	NBEAL1	203748156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.254000	0.74563	0.528000	0.53228	TTT		0.398	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			A	204039911	T	A	204039911	3	1	364	1	0	0	0	0	1	0	0	0	10190	1841	64	5	6436	5	NBEAL1	2	204039911	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10	21635986	204039911	39159462	10	20502											
FN1	2335	hgsc.bcm.edu;ucsc.edu	37	2	216295547	216295547	+	Silent	SNP	C	C	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr2:216295547C>T	ENST00000359671.1	-	5	841	c.576G>A	c.(574-576)ggG>ggA	p.G192G	FN1_ENST00000336916.4_Silent_p.G192G|FN1_ENST00000323926.6_Silent_p.G192G|FN1_ENST00000432072.2_Silent_p.G192G|FN1_ENST00000346544.3_Silent_p.G192G|FN1_ENST00000426059.1_Silent_p.G192G|FN1_ENST00000357009.2_Silent_p.G192G|FN1_ENST00000446046.1_Silent_p.G192G|FN1_ENST00000421182.1_Silent_p.G192G|FN1_ENST00000345488.5_Silent_p.G192G|FN1_ENST00000357867.4_Silent_p.G192G|FN1_ENST00000443816.1_Silent_p.G192G|FN1_ENST00000354785.4_Silent_p.G192G|FN1_ENST00000356005.4_Silent_p.G192G			P02751	FINC_HUMAN	fibronectin 1	192	Fibrin- and heparin-binding 1.|Fibronectin type-I 4. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CATAGGAAGTCCCAGCAGCAT	0.453																																																0													65	62	63					2																	216295547		2203	4300	6503	SO:0001819	synonymous_variant	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.576G>A	2.37:g.216295547C>T			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																					0.453	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		T	216295547	C	T	216295547	2	4	364	1	0	0	0	0	0	0	0	1	5964	842	30	2		2	FN1	2	216295547	Silent	SNP	C	TCGA-BP-4787-01A-01D-1373-10	12255636	216295547	26903826	11	20503											
DLEC1	9940	hgsc.bcm.edu;ucsc.edu	37	3	38158548	38158548	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr3:38158548A>G	ENST00000308059.6	+	30	4283	c.4262A>G	c.(4261-4263)gAg>gGg	p.E1421G	DLEC1_ENST00000452631.2_Missense_Mutation_p.E1424G|DLEC1_ENST00000346219.3_Missense_Mutation_p.E1421G					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CACAAGGTGGAGTGTACTGGC	0.612																																																0													103	104	104					3																	38158548		2064	4220	6284	SO:0001583	missense	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4262A>G	3.37:g.38158548A>G	ENSP00000308597:p.Glu1421Gly			Missense_Mutation	SNP	ENST00000308059.6	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	A	2.374	-0.343699	0.05243	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05717	3.42;3.4;3.64	4.61	-5.0	0.03001	.	0.997243	0.08117	N	0.995243	T	0.04048	0.0113	L	0.38838	1.175	0.09310	N	1	B;B;B;B	0.12630	0.006;0.002;0.006;0.006	B;B;B;B	0.16722	0.006;0.002;0.016;0.006	T	0.47315	-0.9127	10	0.23302	T	0.38	-9.1301	2.7177	0.05192	0.3833:0.3506:0.1651:0.1009	.	1424;1421;1421;1421	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	G	1421;1421;1424	ENSP00000308597:E1421G;ENSP00000315914:E1421G;ENSP00000410427:E1424G	ENSP00000308597:E1421G	E	+	2	0	DLEC1	38133552	0.001000	0.12720	0.032000	0.17829	0.011000	0.07611	-0.134000	0.10436	-0.279000	0.09167	-0.379000	0.06801	GAG		0.612	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		G	38158548	A	G	38158548	3	3	364	1	0	0	0	0	1	0	0	0	4554	304	11	3	4380	3	DLEC1	3	38158548	Missense_Mutation	SNP	A	TCGA-BP-4787-01A-01D-1373-10		38158548	159863882	12	20504											
TTC33	23548	hgsc.bcm.edu	37	5	40716407	40716407	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr5:40716407T>A	ENST00000337702.4	-	5	781	c.629A>T	c.(628-630)gAg>gTg	p.E210V	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	210										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGCAACAATCTCATCACTTTC	0.403																																																0													119	105	110					5																	40716407		2203	4300	6503	SO:0001583	missense	23548			BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"Tetratricopeptide (TTC) repeat domain containing"	29959	protein-coding gene	gene with protein product	"osmosis responsive factor"					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.629A>T	5.37:g.40716407T>A	ENSP00000338533:p.Glu210Val		B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389596	0.82902	.	.	ENSG00000113638	ENST00000337702	T	0.42131	0.98	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62845	-0.6768	10	0.87932	D	0	-23.8489	15.6268	0.76867	0.0:0.0:0.0:1.0	.	210	Q6PID6	TTC33_HUMAN	V	210	ENSP00000338533:E210V	ENSP00000338533:E210V	E	-	2	0	TTC33	40752164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.470000	0.73558	2.097000	0.63578	0.528000	0.53228	GAG		0.403	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		A	40716407	T	A	40716407	3	1	364	1	0	0	0	0	1	0	0	0	16707	1551	54	5	163	5	TTC33	5	40716407	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10		40716407	140198853	13	20505											
SLC27A6	28965	hgsc.bcm.edu;ucsc.edu	37	5	128368959	128368959	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr5:128368959G>C	ENST00000262462.4	+	10	2854	c.1844G>C	c.(1843-1845)gGg>gCg	p.G615A	SLC27A6_ENST00000395266.1_Missense_Mutation_p.G615A|SLC27A6_ENST00000506176.1_Missense_Mutation_p.G615A			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	615					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATAATGTTAGGGGAAATAAAA	0.323																																																0													37	39	39					5																	128368959		2203	4292	6495	SO:0001583	missense	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1844G>C	5.37:g.128368959G>C	ENSP00000262462:p.Gly615Ala		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.880084	0.33162	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.58506	0.33;0.33;0.33	4.17	0.382	0.16234	.	0.326061	0.32416	N	0.006133	T	0.55561	0.1928	M	0.76002	2.32	0.09310	N	1	P	0.40553	0.721	B	0.42827	0.399	T	0.50242	-0.8851	9	.	.	.	0.0	8.1866	0.31343	0.4292:0.0:0.5708:0.0	.	615	Q9Y2P4	S27A6_HUMAN	A	615	ENSP00000262462:G615A;ENSP00000378684:G615A;ENSP00000421024:G615A	.	G	+	2	0	SLC27A6	128396858	1.000000	0.71417	0.001000	0.08648	0.703000	0.40648	3.739000	0.55075	0.049000	0.15920	0.585000	0.79938	GGG		0.323	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		C	128368959	G	C	128368959	3	2	364	1	0	0	0	0	1	0	0	0	14536	1232	43	4	1882	4	SLC27A6	5	128368959	Missense_Mutation	SNP	G	TCGA-BP-4787-01A-01D-1373-10	87652552	128368959	52546301	14	20506											
NMUR2	56923	hgsc.bcm.edu	37	5	151784357	151784357	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr5:151784357C>T	ENST00000255262.3	-	1	483	c.318G>A	c.(316-318)atG>atA	p.M106I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	106					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGTTGCGCCACATCTCATAGA	0.587																																																0													92	96	95					5																	151784357		2203	4300	6503	SO:0001583	missense	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.318G>A	5.37:g.151784357C>T	ENSP00000255262:p.Met106Ile		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908581	0.72868	.	.	ENSG00000132911	ENST00000255262	T	0.35236	1.32	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.054186	0.85682	D	0.000000	T	0.35856	0.0946	L	0.38531	1.155	0.58432	D	0.999995	P	0.38617	0.64	B	0.40602	0.334	T	0.08086	-1.0739	10	0.42905	T	0.14	-25.3022	18.4906	0.90846	0.0:1.0:0.0:0.0	.	106	Q9GZQ4	NMUR2_HUMAN	I	106	ENSP00000255262:M106I	ENSP00000255262:M106I	M	-	3	0	NMUR2	151764550	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.637000	0.61346	2.607000	0.88179	0.655000	0.94253	ATG		0.587	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		T	151784357	C	T	151784357	3	4	364	1	0	0	0	0	1	0	0	0	10509	478	17	2	945	2	NMUR2	5	151784357	Missense_Mutation	SNP	C	TCGA-BP-4787-01A-01D-1373-10	23415398	151784357	29130903	15	20507											
EYS	346007	hgsc.bcm.edu;ucsc.edu	37	6	64791859	64791859	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr6:64791859G>T	ENST00000370621.3	-	32	6987	c.6461C>A	c.(6460-6462)tCc>tAc	p.S2154Y	EYS_ENST00000503581.1_Missense_Mutation_p.S2154Y|EYS_ENST00000370616.2_Missense_Mutation_p.S2154Y			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2154	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTCTAAATAGGAATTCCCATT	0.308																																																0													71	62	65					6																	64791859		692	1586	2278	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6461C>A	6.37:g.64791859G>T	ENSP00000359655:p.Ser2154Tyr		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	G	16.15	3.040836	0.55003	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.74315	-0.83;-0.83;-0.83	5.66	2.94	0.34122	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.70684	0.3252	L	0.43923	1.385	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70016	0.967;0.928	T	0.72204	-0.4361	9	0.62326	D	0.03	.	8.8983	0.35479	0.2223:0.0:0.7777:0.0	.	2154;2154	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	Y	2154	ENSP00000424243:S2154Y;ENSP00000359655:S2154Y;ENSP00000359650:S2154Y	ENSP00000359650:S2154Y	S	-	2	0	EYS	64849818	1.000000	0.71417	0.491000	0.27477	0.970000	0.65996	3.548000	0.53670	0.340000	0.23745	0.655000	0.94253	TCC		0.308	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		T	64791859	G	T	64791859	3	4	364	1	0	0	0	0	1	0	0	0	5334	1174	41	4	3021	4	EYS	6	64791859	Missense_Mutation	SNP	G	TCGA-BP-4787-01A-01D-1373-10		64791859	106323208	16	20508											
NPY	4852	hgsc.bcm.edu;ucsc.edu	37	7	24329150	24329150	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr7:24329150T>C	ENST00000407573.1	+	4	511	c.221T>C	c.(220-222)aTt>aCt	p.I74T	NPY_ENST00000405982.1_Missense_Mutation_p.I74T|NPY_ENST00000242152.2_Missense_Mutation_p.I74T			P01303	NPY_HUMAN	neuropeptide Y	74					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GAGACACTGATTTCAGACCTC	0.418																																																0													123	115	118					7																	24329150		2203	4300	6503	SO:0001583	missense	4852			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"Endogenous ligands"	7955	protein-coding gene	gene with protein product	"prepro-neuropeptide Y"	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.221T>C	7.37:g.24329150T>C	ENSP00000384364:p.Ile74Thr			Missense_Mutation	SNP	ENST00000407573.1	37	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065128	0.55432	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.13196	2.61;2.61;2.61	5.78	5.78	0.91487	.	0.158711	0.56097	D	0.000027	T	0.14614	0.0353	.	.	.	0.52099	D	0.999946	B	0.20780	0.048	B	0.12837	0.008	T	0.01899	-1.1251	9	0.54805	T	0.06	-5.3047	16.1141	0.81289	0.0:0.0:0.0:1.0	.	74	P01303	NPY_HUMAN	T	74	ENSP00000242152:I74T;ENSP00000384364:I74T;ENSP00000385282:I74T	ENSP00000242152:I74T	I	+	2	0	NPY	24295675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.979000	0.76154	2.214000	0.71695	0.528000	0.53228	ATT		0.418	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		C	24329150	T	C	24329150	3	2	364	1	0	0	0	0	1	0	0	0	10609	1493	52	3	227	3	NPY	7	24329150	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10		24329150	134809513	17	20509											
FGL2	10875	hgsc.bcm.edu	37	7	76828961	76828961	+	Silent	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr7:76828961T>C	ENST00000248598.5	-	1	182	c.150A>G	c.(148-150)gaA>gaG	p.E50E	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	50						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCCCTGCCTCTTCGCATTTCC	0.488																																																0													121	117	118					7																	76828961		2203	4300	6503	SO:0001819	synonymous_variant	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.150A>G	7.37:g.76828961T>C				Silent	SNP	ENST00000248598.5	37	CCDS5591.1																																																																																				0.488	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		C	76828961	T	C	76828961	2	2	364	1	0	0	0	0	0	0	0	1	5875	1606	56	3		3	FGL2	7	76828961	Silent	SNP	T	TCGA-BP-4787-01A-01D-1373-10	52499811	76828961	82309702	18	20510											
FBXL13	222235	hgsc.bcm.edu;ucsc.edu	37	7	102518015	102518015	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr7:102518015A>C	ENST00000313221.4	-	16	1960	c.1534T>G	c.(1534-1536)Tta>Gta	p.L512V	FBXL13_ENST00000436908.1_Missense_Mutation_p.L512V|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.L512V|FBXL13_ENST00000455112.2_Missense_Mutation_p.L512V|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Missense_Mutation_p.L512V|FBXL13_ENST00000379308.3_Missense_Mutation_p.L512V	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	512										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAATTTCGTAAACTCAAGTAG	0.318																																																0													75	79	78					7																	102518015		2203	4291	6494	SO:0001583	missense	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1534T>G	7.37:g.102518015A>C	ENSP00000321927:p.Leu512Val		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065424	0.55432	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.74526	-0.7;-0.77;-0.7;-0.85;-0.85;-0.77	5.67	1.96	0.26148	.	0.000000	0.64402	D	0.000016	T	0.82208	0.4987	M	0.74546	2.27	0.80722	D	1	D;D;P	0.89917	0.984;1.0;0.897	P;D;P	0.85130	0.894;0.997;0.622	T	0.79718	-0.1686	10	0.54805	T	0.06	.	7.3141	0.26491	0.6134:0.0:0.3866:0.0	.	512;512;512	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	V	512;512;233;512;512;512;512	ENSP00000377367:L512V;ENSP00000368610:L512V;ENSP00000368607:L512V;ENSP00000388608:L512V;ENSP00000321927:L512V;ENSP00000391550:L512V	ENSP00000321927:L512V	L	-	1	2	FBXL13	102305251	1.000000	0.71417	0.991000	0.47740	0.624000	0.37722	1.230000	0.32612	0.484000	0.27630	0.528000	0.53228	TTA		0.318	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		C	102518015	A	C	102518015	3	2	364	1	0	0	0	0	1	0	0	0	5711	11	1	5	693	5	FBXL13	7	102518015	Missense_Mutation	SNP	A	TCGA-BP-4787-01A-01D-1373-10	25689054	102518015	56620648	19	20511											
PTPRZ1	5803	hgsc.bcm.edu	37	7	121651295	121651295	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr7:121651295C>A	ENST00000393386.2	+	12	2606	c.2195C>A	c.(2194-2196)tCc>tAc	p.S732Y	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S732Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	732					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACCCCATCCTCCAGACAACAG	0.478																																																0													131	121	125					7																	121651295		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2195C>A	7.37:g.121651295C>A	ENSP00000377047:p.Ser732Tyr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345217	0.24426	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;D	0.83914	0.17;-1.78	5.87	4.99	0.66335	.	0.248463	0.35970	N	0.002867	T	0.81029	0.4738	M	0.69823	2.125	0.37529	D	0.917831	B;B;B	0.15930	0.001;0.0;0.015	B;B;B	0.15052	0.002;0.001;0.012	T	0.80365	-0.1413	10	0.72032	D	0.01	.	9.8827	0.41242	0.1399:0.791:0.0:0.069	.	732;732;732	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	Y	732	ENSP00000377047:S732Y;ENSP00000410000:S732Y	ENSP00000377047:S732Y	S	+	2	0	PTPRZ1	121438531	0.981000	0.34729	0.806000	0.32338	0.963000	0.63663	2.418000	0.44662	1.477000	0.48234	0.655000	0.94253	TCC		0.478	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121651295	C	A	121651295	3	1	364	1	0	0	0	0	1	0	0	0	12820	855	30	4	2241	4	PTPRZ1	7	121651295	Missense_Mutation	SNP	C	TCGA-BP-4787-01A-01D-1373-10	19133280	121651295	37487368	20	20512											
VPS13B	157680	hgsc.bcm.edu	37	8	100155297	100155297	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr8:100155297G>A	ENST00000358544.2	+	13	1858	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	VPS13B_ENST00000357162.2_Missense_Mutation_p.D583N|VPS13B_ENST00000395996.1_Missense_Mutation_p.D583N|VPS13B_ENST00000355155.1_Missense_Mutation_p.D583N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	583					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGTCCTCTTGATTTTCGTTT	0.393																																					Colon(161;2205 2542 7338 31318)											0													135	133	134					8																	100155297		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1747G>A	8.37:g.100155297G>A	ENSP00000351346:p.Asp583Asn		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	8.740	0.918852	0.17982	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.76839	-1.05;-0.35;-0.34;-0.05	5.43	4.55	0.56014	.	0.077680	0.53938	D	0.000057	T	0.59649	0.2209	N	0.17082	0.46	0.34596	D	0.715988	B;B;B;B;B	0.14805	0.002;0.011;0.007;0.002;0.002	B;B;B;B;B	0.13407	0.006;0.009;0.004;0.006;0.006	T	0.61787	-0.6991	10	0.28530	T	0.3	.	8.3209	0.32128	0.1787:0.0:0.8213:0.0	.	583;583;583;583;583	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	N	583	ENSP00000347281:D583N;ENSP00000349685:D583N;ENSP00000351346:D583N;ENSP00000379318:D583N	ENSP00000347281:D583N	D	+	1	0	VPS13B	100224473	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.282000	0.43461	2.531000	0.85337	0.591000	0.81541	GAT		0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		A	100155297	G	A	100155297	3	1	364	1	0	0	0	0	1	0	0	0	17195	1290	45	2	1835	2	VPS13B	8	100155297	Missense_Mutation	SNP	G	TCGA-BP-4787-01A-01D-1373-10		100155297	46208725	21	20513											
IFNB1	3456	hgsc.bcm.edu;ucsc.edu	37	9	21077494	21077494	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr9:21077494T>A	ENST00000380232.2	-	1	449	c.375A>T	c.(373-375)gaA>gaT	p.E125D		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	125					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		TCTCCAGTTTTTCTTCCAGGA	0.433																																																0													185	189	188					9																	21077494		2203	4300	6503	SO:0001583	missense	3456				CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"Interferons"	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.375A>T	9.37:g.21077494T>A	ENSP00000369581:p.Glu125Asp		Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.778066	0.31502	.	.	ENSG00000171855	ENST00000380232	T	0.03772	3.81	5.32	-1.15	0.09709	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.580602	0.19295	N	0.117798	T	0.04634	0.0126	L	0.49126	1.545	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.32214	-0.9915	10	0.87932	D	0	-0.0756	5.0656	0.14580	0.0:0.2351:0.2727:0.4922	.	125	P01574	IFNB_HUMAN	D	125	ENSP00000369581:E125D	ENSP00000369581:E125D	E	-	3	2	IFNB1	21067494	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.068000	0.14531	0.139000	0.18822	0.528000	0.53228	GAA		0.433	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		A	21077494	T	A	21077494	3	1	364	1	0	0	0	0	1	0	0	0	7548	1838	64	5	192	5	IFNB1	9	21077494	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10		21077494	120135937	22	20514											
C9orf3	84909	hgsc.bcm.edu	37	9	97522820	97522820	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr9:97522820C>A	ENST00000375315.2	+	1	755	c.755C>A	c.(754-756)cCt>cAt	p.P252H	C9orf3_ENST00000277198.2_Missense_Mutation_p.P252H|C9orf3_ENST00000297979.5_Missense_Mutation_p.P252H	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	252					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAAACTAAACCTGAAGGGCGA	0.493																																																0													58	54	55					9																	97522820		2203	4300	6503	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.755C>A	9.37:g.97522820C>A	ENSP00000364464:p.Pro252His		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446493	0.63178	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193;ENST00000424143;ENST00000428313	T;T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6;3.6	4.79	4.79	0.61399	.	0.143856	0.46442	D	0.000289	T	0.22820	0.0551	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.991;0.964;0.996	T	0.00460	-1.1726	10	0.87932	D	0	-10.3594	18.3896	0.90478	0.0:1.0:0.0:0.0	.	252;252;252;252	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	H	252;252;252;126;75;34	ENSP00000277198:P252H;ENSP00000297979:P252H;ENSP00000364464:P252H;ENSP00000387736:P126H;ENSP00000402171:P75H;ENSP00000401854:P34H	ENSP00000277198:P252H	P	+	2	0	C9orf3	96562641	1.000000	0.71417	0.992000	0.48379	0.893000	0.52053	7.115000	0.77110	2.648000	0.89879	0.467000	0.42956	CCT		0.493	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		A	97522820	C	A	97522820	3	1	364	1	0	0	0	0	1	0	0	0	2479	681	24	4	757	4	C9orf3	9	97522820	Missense_Mutation	SNP	C	TCGA-BP-4787-01A-01D-1373-10	76445326	97522820	43690611	23	20515											
BAT2L1	84726	hgsc.bcm.edu	37	9	134308050	134308050	+	Silent	SNP	C	C	G			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr9:134308050C>G	ENST00000357304.4	+	2	217	c.162C>G	c.(160-162)gcC>gcG	p.A54A	PRRC2B_ENST00000458550.1_Silent_p.A54A|PRRC2B_ENST00000405995.1_Silent_p.A54A	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	54							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTGCTGCAGCCCGGCGCATGC	0.527																																																0													61	67	65					9																	134308050		1944	4161	6105	SO:0001819	synonymous_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.162C>G	9.37:g.134308050C>G			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1																																																																																				0.527	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	134308050	C	G	134308050	2	3	364	1	0	0	0	0	0	0	0	1	1320	610	22	4		4	BAT2L1	9	134308050	Silent	SNP	C	TCGA-BP-4787-01A-01D-1373-10	36785230	134308050	6905381	24	20516											
PNPLA7	375775	hgsc.bcm.edu	37	9	140416146	140416146	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr9:140416146C>A	ENST00000277531.4	-	9	1010	c.824G>T	c.(823-825)aGg>aTg	p.R275M	PNPLA7_ENST00000406427.1_Missense_Mutation_p.R300M	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	275					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AAAGGTCACCCTCTGCAGCCG	0.617																																																0													143	115	125					9																	140416146		2203	4300	6503	SO:0001583	missense	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.824G>T	9.37:g.140416146C>A	ENSP00000277531:p.Arg275Met		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743515	0.69418	.	.	ENSG00000130653	ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T;T	0.46063	0.9;0.88;0.88;0.88	4.75	4.75	0.60458	Cyclic nucleotide-binding-like (1);	0.118718	0.64402	D	0.000010	T	0.67163	0.2864	M	0.83953	2.67	0.29384	N	0.863076	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	T	0.68345	-0.5433	10	0.87932	D	0	-29.9852	15.2427	0.73482	0.0:1.0:0.0:0.0	.	6;300;275	E2QRF8;Q6ZV29-5;Q6ZV29	.;.;PLPL7_HUMAN	M	6;275;300;275;266;300	ENSP00000360501:R6M;ENSP00000277531:R275M;ENSP00000384610:R300M;ENSP00000400582:R266M	ENSP00000277531:R275M	R	-	2	0	PNPLA7	139535967	1.000000	0.71417	0.993000	0.49108	0.373000	0.29922	7.078000	0.76821	2.176000	0.68965	0.313000	0.20887	AGG		0.617	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		A	140416146	C	A	140416146	3	1	364	1	0	0	0	0	1	0	0	0	12172	681	24	4	3233	4	PNPLA7	9	140416146	Missense_Mutation	SNP	C	TCGA-BP-4787-01A-01D-1373-10	6108096	140416146	797285	25	20517											
CUBN	8029	hgsc.bcm.edu;ucsc.edu	37	10	16873255	16873255	+	Silent	SNP	G	G	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr10:16873255G>T	ENST00000377833.4	-	65	10589	c.10524C>A	c.(10522-10524)ccC>ccA	p.P3508P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3508					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTTACCAGAGGGTGATGAAG	0.363																																																0													101	93	96					10																	16873255		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10524C>A	10.37:g.16873255G>T			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.363	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16873255	G	T	16873255	2	4	364	1	0	0	0	0	0	0	0	1	4053	987	35	4		4	CUBN	10	16873255	Silent	SNP	G	TCGA-BP-4787-01A-01D-1373-10		16873255	118661492	26	20518											
GDF10	2662	hgsc.bcm.edu;ucsc.edu	37	10	48428675	48428675	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr10:48428675T>C	ENST00000224605.2	-	2	1476	c.1211A>G	c.(1210-1212)tAc>tGc	p.Y404C		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	404					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TCCCGCGCAGTAGTAGGCATC	0.532																																																0													86	85	85					10																	48428675		2203	4300	6503	SO:0001583	missense	2662			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1211A>G	10.37:g.48428675T>C	ENSP00000224605:p.Tyr404Cys		Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.088179	0.76642	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	D	0.87334	-2.24	5.43	5.43	0.79202	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95896	0.8664	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97365	0.9972	10	0.87932	D	0	.	14.9572	0.71124	0.0:0.0:0.0:1.0	.	214;404	Q8N6T2;P55107	.;BMP3B_HUMAN	C	214;404	ENSP00000224605:Y404C	ENSP00000224605:Y404C	Y	-	2	0	GDF10	48048681	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.907000	0.87430	2.198000	0.70561	0.533000	0.62120	TAC		0.532	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		C	48428675	T	C	48428675	3	2	364	1	0	0	0	0	1	0	0	0	6313	1638	57	3	233	3	GDF10	10	48428675	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10	31555420	48428675	87106072	27	20519											
MUC5B	727897	hgsc.bcm.edu	37	11	1271219	1271221	+	In_Frame_Del	DEL	CCA	CCA	-	rs61430934|rs199629887	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	CCA	CCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:1271219_1271221delCCA	ENST00000529681.1	+	31	13167_13169	c.13109_13111delCCA	c.(13108-13113)gccacc>gcc	p.T4373del	MUC5B_ENST00000447027.1_In_Frame_Del_p.T4376del|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4373	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGAAGGCCACCACGACAAG	0.635														328	0.0654952	0.0242	0.1095	5008	,	,		19711	0.0496		0.0805	False		,,,				2504	0.091															0										85,4011		5,75,1968						-0.1	0		dbSNP_129	110	576,7474		25,526,3474	no	coding	MUC5B	NM_002458.2		30,601,5442	A1A1,A1R,RR		7.1553,2.0752,5.4421				661,11485				SO:0001651	inframe_deletion	4586			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13109_13111delCCA	11.37:g.1271222_1271224delCCA	ENSP00000436812:p.Thr4373del		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	In_Frame_Del	DEL	ENST00000529681.1	37	CCDS44515.2																																																																																				0.635	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		-	1271221	CCA	-	1271219	7	5	364	1	0	1	0	1	0	0	0	0	9981	739	26	0	13240	0	MUC5B	11	1271219	In_Frame_Del	DEL	CCA	TCGA-BP-4787-01A-01D-1373-10		1271219	133735297	28	20520											
ARFGAP2	84364	hgsc.bcm.edu	37	11	47195002	47195002	+	Silent	SNP	A	A	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:47195002A>C	ENST00000524782.1	-	7	822	c.594T>G	c.(592-594)ctT>ctG	p.L198L	ARFGAP2_ENST00000419701.2_Silent_p.L91L|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000319543.6_Intron	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	198	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTGAGGTGCCAAGCAGGTCTG	0.562																																																0													63	52	56					11																	47195002		2196	4285	6481	SO:0001819	synonymous_variant	84364			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.594T>G	11.37:g.47195002A>C			B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Silent	SNP	ENST00000524782.1	37	CCDS7926.1																																																																																				0.562	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		C	47195002	A	C	47195002	2	2	364	1	0	0	0	0	0	0	0	1	850	117	5	5		5	ARFGAP2	11	47195002	Silent	SNP	A	TCGA-BP-4787-01A-01D-1373-10	45923783	47195002	87811514	29	20521											
OR10AG1	282770	hgsc.bcm.edu;ucsc.edu	37	11	55735474	55735474	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:55735474G>A	ENST00000312345.2	-	1	516	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAGGGCAAAAGGAAAATTTGG	0.393																																																0													82	80	81					11																	55735474		2201	4296	6497	SO:0001583	missense	282770			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.466C>T	11.37:g.55735474G>A	ENSP00000311477:p.Leu156Phe		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817815	0.32145	.	.	ENSG00000174970	ENST00000312345	T	0.00107	8.72	5.47	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.231776	0.31134	N	0.008193	T	0.00073	0.0002	N	0.11313	0.125	0.09310	N	1	B	0.25667	0.131	B	0.20955	0.032	T	0.18999	-1.0319	10	0.44086	T	0.13	.	3.2633	0.06856	0.5753:0.0:0.1742:0.2505	.	156	Q8NH19	O10AG_HUMAN	F	156	ENSP00000311477:L156F	ENSP00000311477:L156F	L	-	1	0	OR10AG1	55492050	0.000000	0.05858	0.995000	0.50966	0.799000	0.45148	-1.270000	0.02831	0.957000	0.37930	-0.499000	0.04595	CTT		0.393	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		A	55735474	G	A	55735474	3	1	364	1	0	0	0	0	1	0	0	0	10899	1000	35	2	442	2	OR10AG1	11	55735474	Missense_Mutation	SNP	G	TCGA-BP-4787-01A-01D-1373-10	8540472	55735474	79271042	30	20522											
RIN1	9610	hgsc.bcm.edu	37	11	66100155	66100155	+	Silent	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:66100155T>C	ENST00000311320.4	-	10	2070	c.1944A>G	c.(1942-1944)ccA>ccG	p.P648P	RIN1_ENST00000424433.2_Silent_p.P543P|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000530056.1_Silent_p.P482P	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	648	Ras and 14-3-3 protein binding region.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCGAGGCTTCTGGGGGCACGG	0.582																																																0													84	91	89					11																	66100155		2199	4294	6493	SO:0001819	synonymous_variant	9610			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1944A>G	11.37:g.66100155T>C			O15010|Q00427|Q96CC8	Silent	SNP	ENST00000311320.4	37	CCDS31614.1																																																																																				0.582	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		C	66100155	T	C	66100155	2	2	364	1	0	0	0	0	0	0	0	1	13377	1567	55	3		3	RIN1	11	66100155	Silent	SNP	T	TCGA-BP-4787-01A-01D-1373-10	10364681	66100155	68906361	31	20523											
SHANK2	22941	hgsc.bcm.edu;ucsc.edu	37	11	70349010	70349010	+	Silent	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:70349010G>A	ENST00000423696.2	-	8	987	c.951C>T	c.(949-951)gtC>gtT	p.V317V	SHANK2_ENST00000449116.2_Silent_p.V108V|SHANK2_ENST00000357171.3_Silent_p.V108V|SHANK2_ENST00000338508.4_Silent_p.V697V|SHANK2_ENST00000409530.1_Silent_p.V107V|SHANK2_ENST00000449833.2_Silent_p.V108V|SHANK2_ENST00000409161.1_Silent_p.V107V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	317	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCCTGTGGCCGACTTTGACAA	0.582																																																0													154	135	142					11																	70349010		2200	4294	6494	SO:0001819	synonymous_variant	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.951C>T	11.37:g.70349010G>A			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.222|9.222	1.033507|1.033507	0.19590|0.19590	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000412252|ENST00000426687	.|.	.|.	.|.	4.46|4.46	-5.23|-5.23	0.02798|0.02798	.|.	.|.	.|.	.|.	.|.	T|T	0.50599|0.50599	0.1625|0.1625	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51124|0.51124	-0.8745|-0.8745	4|4	.|.	.|.	.|.	.|.	8.8651|8.8651	0.35280|0.35280	0.4951:0.371:0.1339:0.0|0.4951:0.371:0.1339:0.0	.|.	.|.	.|.	.|.	W|L	107|106	.|.	.|.	R|S	-|-	1|2	2|0	SHANK2|SHANK2	70026658|70026658	0.373000|0.373000	0.25073|0.25073	0.952000|0.952000	0.39060|0.39060	0.839000|0.839000	0.47603|0.47603	-0.297000|-0.297000	0.08276|0.08276	-1.043000|-1.043000	0.03258|0.03258	-0.379000|-0.379000	0.06801|0.06801	CGG|TCG		0.582	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		A	70349010	G	A	70349010	2	1	364	1	0	0	0	0	0	0	0	1	14271	1045	37	1		1	SHANK2	11	70349010	Silent	SNP	G	TCGA-BP-4787-01A-01D-1373-10	4248855	70349010	64657506	32	20524											
MPZL3	196264	hgsc.bcm.edu;ucsc.edu	37	11	118106270	118106270	+	Silent	SNP	A	A	G			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:118106270A>G	ENST00000278949.4	-	4	541	c.486T>C	c.(484-486)ctT>ctC	p.L162L	MPZL3_ENST00000527472.1_Silent_p.L150L|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	162					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CAAGGATGGAAAGAAGGGCCA	0.542																																																0													116	102	107					11																	118106270		2200	4296	6496	SO:0001819	synonymous_variant	196264			AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"Immunoglobulin superfamily / V-set domain containing"	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.486T>C	11.37:g.118106270A>G			A8K025|B4DLD5|B4E2I8	Silent	SNP	ENST00000278949.4	37	CCDS8392.1																																																																																				0.542	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		G	118106270	A	G	118106270	2	3	364	1	0	0	0	0	0	0	0	1	9753	1	1	3		3	MPZL3	11	118106270	Silent	SNP	A	TCGA-BP-4787-01A-01D-1373-10	47757260	118106270	16900246	33	20525											
ARCN1	372	hgsc.bcm.edu;ucsc.edu	37	11	118454621	118454621	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr11:118454621G>T	ENST00000264028.4	+	4	640	c.545G>T	c.(544-546)gGa>gTa	p.G182V	ARCN1_ENST00000392859.3_Missense_Mutation_p.G94V|ARCN1_ENST00000359415.4_Missense_Mutation_p.G223V|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	182					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAAGCACCAGGATTTGGCGGA	0.488																																																0													126	110	116					11																	118454621		2200	4295	6495	SO:0001583	missense	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.545G>T	11.37:g.118454621G>T	ENSP00000264028:p.Gly182Val		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628652	0.46944	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.70045	-0.45;-0.45;-0.45	6.02	6.02	0.97574	.	0.144850	0.64402	D	0.000009	T	0.75613	0.3873	M	0.64260	1.97	0.80722	D	1	P;P;D	0.57899	0.878;0.795;0.981	P;B;P	0.54856	0.481;0.209;0.762	T	0.69202	-0.5207	10	0.22706	T	0.39	-18.1095	20.1358	0.98028	0.0:0.0:1.0:0.0	.	94;223;182	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	V	94;223;182	ENSP00000376599:G94V;ENSP00000352385:G223V;ENSP00000264028:G182V	ENSP00000264028:G182V	G	+	2	0	ARCN1	117959831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.847000	0.69451	2.865000	0.98341	0.655000	0.94253	GGA		0.488	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			T	118454621	G	T	118454621	3	4	364	1	0	0	0	0	1	0	0	0	842	1174	41	4	559	4	ARCN1	11	118454621	Missense_Mutation	SNP	G	TCGA-BP-4787-01A-01D-1373-10	348351	118454621	16551895	34	20526											
KDM5A	5927	hgsc.bcm.edu;ucsc.edu	37	12	416170	416170	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr12:416170T>A	ENST00000399788.2	-	24	4378	c.4016A>T	c.(4015-4017)gAt>gTt	p.D1339V	KDM5A_ENST00000382815.4_Missense_Mutation_p.D1339V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1339					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTCTTCATCATCATAGTCCAT	0.428			T	NUP98	AML																																		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													292	267	275					12																	416170		2006	4190	6196	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4016A>T	12.37:g.416170T>A	ENSP00000382688:p.Asp1339Val		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282757	0.80692	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.86297	-2.1;-1.96	5.78	5.78	0.91487	.	0.300695	0.36134	N	0.002780	D	0.89382	0.6699	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	D	0.90050	0.4148	10	0.49607	T	0.09	-20.3321	16.1103	0.81259	0.0:0.0:0.0:1.0	.	1339;1339	P29375;P29375-2	KDM5A_HUMAN;.	V	1339	ENSP00000382688:D1339V;ENSP00000372265:D1339V	ENSP00000372265:D1339V	D	-	2	0	KDM5A	286431	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.450000	0.80656	2.207000	0.71202	0.482000	0.46254	GAT		0.428	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		A	416170	T	A	416170	3	1	364	1	0	0	0	0	1	0	0	0	8135	1435	50	5	1076	5	KDM5A	12	416170	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10		416170	133435725	35	20527											
C12orf60	144608	hgsc.bcm.edu	37	12	14976418	14976419	+	Frame_Shift_Del	DEL	TA	TA	-	rs202023163|rs10556010|rs139293175	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr12:14976418_14976419delTA	ENST00000330828.2	+	2	753_754	c.549_550delTA	c.(547-552)actatgfs	p.M184fs	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	184										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CCAAAACCACTATGATAGACAC	0.401														952	0.190096	0.323	0.0893	5008	,	,		19363	0.0823		0.1431	False		,,,				2504	0.2413															0										1110,3154		144,822,1166						1.4	0		dbSNP_119	49	1274,6978		101,1072,2953	no	frameshift	C12orf60	NM_175874.3		245,1894,4119	A1A1,A1R,RR		15.4387,26.0319,19.0476				2384,10132				SO:0001589	frameshift_variant	144608			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.549_550delTA	12.37:g.14976418_14976419delTA	ENSP00000331691:p.Met184fs		A8K1M7|Q5XKK8|Q8IXY2	Frame_Shift_Del	DEL	ENST00000330828.2	37	CCDS8667.1																																																																																				0.401	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		-	14976419	TA	-	14976418	7	5	364	1	0	1	0	1	0	0	0	0	1705	1509	53	0	551	0	C12orf60	12	14976418	Frame_Shift_Del	DEL	TA	TCGA-BP-4787-01A-01D-1373-10	14560248	14976418	118875477	36	20528											
ST8SIA1	6489	hgsc.bcm.edu;ucsc.edu	37	12	22440140	22440140	+	Silent	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr12:22440140G>A	ENST00000396037.4	-	2	805	c.324C>T	c.(322-324)gaC>gaT	p.D108D	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.T2M	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	108					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						AAAACTCCCCGTCATACCACA	0.413																																																0													103	96	99					12																	22440140		2203	4300	6503	SO:0001819	synonymous_variant	6489			L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.324C>T	12.37:g.22440140G>A			A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	G	7.223	0.597693	0.13875	.	.	ENSG00000111728	ENST00000539510	.	.	.	5.35	-5.83	0.02325	.	.	.	.	.	T	0.29749	0.0743	.	.	.	0.22601	N	0.998948	B	0.06786	0.001	B	0.09377	0.004	T	0.24835	-1.0149	6	.	.	.	-17.7696	14.4855	0.67614	0.3979:0.0:0.6021:0.0	.	2	G3V1U7	.	M	2	.	.	T	-	2	0	ST8SIA1	22331407	0.579000	0.26725	0.254000	0.24359	0.950000	0.60333	-0.150000	0.10189	-1.237000	0.02539	-0.946000	0.02672	ACG		0.413	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		A	22440140	G	A	22440140	2	1	364	1	0	0	0	0	0	0	0	1	15236	1136	40	1		1	ST8SIA1	12	22440140	Silent	SNP	G	TCGA-BP-4787-01A-01D-1373-10	7463722	22440140	111411755	37	20529											
ACSS3	79611	hgsc.bcm.edu	37	12	81503485	81503485	+	Splice_Site	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr12:81503485T>C	ENST00000548058.1	+	2	1366		c.e2+2		RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Splice_Site			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3							mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTGGAGCAGGTAATATCATAA	0.299																																																0													60	62	61					12																	81503485		2202	4300	6502	SO:0001630	splice_region_variant	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.456+2T>C	12.37:g.81503485T>C			Q8NC66	Splice_Site	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.009220	0.75046	.	.	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3473	0.74350	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSS3	80027616	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.612000	0.74187	2.326000	0.78906	0.533000	0.62120	.		0.299	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560	Intron	C	81503485	T	C	81503485	5	2	364	1	0	0	0	0	0	0	1	0	190	1652	57	3	464	3	ACSS3	12	81503485	Splice_Site	SNP	T	TCGA-BP-4787-01A-01D-1373-10	59063345	81503485	52348410	38	20530											
SLC24A6	80024	hgsc.bcm.edu	37	12	113737765	113737765	+	Silent	SNP	T	T	G			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr12:113737765T>G	ENST00000552014.1	-	17	2087	c.1572A>C	c.(1570-1572)ggA>ggC	p.G524G	SLC8B1_ENST00000549069.1_Silent_p.G83G|SLC8B1_ENST00000550047.1_Silent_p.G39G|SLC8B1_ENST00000202831.3_Silent_p.G524G|SLC8B1_ENST00000546737.1_Silent_p.G468G			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	524					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										ACACCAGCAGTCCGTCTGGCT	0.627																																																0													44	46	45					12																	113737765		2203	4300	6503	SO:0001819	synonymous_variant	80024			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1572A>C	12.37:g.113737765T>G			A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	CCDS31909.1																																																																																				0.627	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		G	113737765	T	G	113737765	2	3	364	1	0	0	0	0	0	0	0	1	14476	1654	58	5		5	SLC24A6	12	113737765	Silent	SNP	T	TCGA-BP-4787-01A-01D-1373-10	32234280	113737765	20114130	39	20531											
FRMD6	122786	hgsc.bcm.edu	37	14	52174837	52174837	+	Silent	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr14:52174837T>A	ENST00000344768.5	+	7	796	c.600T>A	c.(598-600)atT>atA	p.I200I	FRMD6_ENST00000554167.1_Silent_p.I123I|FRMD6_ENST00000395718.2_Silent_p.I192I|FRMD6_ENST00000356218.4_Silent_p.I192I			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	200	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGAAGCACATTCCAAACATGC	0.448																																																0													123	104	110					14																	52174837		2203	4300	6503	SO:0001819	synonymous_variant	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.600T>A	14.37:g.52174837T>A			D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	CCDS58318.1																																																																																				0.448	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		A	52174837	T	A	52174837	2	1	364	1	0	0	0	0	0	0	0	1	6056	1771	62	5		5	FRMD6	14	52174837	Silent	SNP	T	TCGA-BP-4787-01A-01D-1373-10		52174837	55174703	40	20532											
ZWILCH	55055	hgsc.bcm.edu	37	15	66824728	66824728	+	Silent	SNP	C	C	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr15:66824728C>T	ENST00000307897.5	+	13	1679	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	ZWILCH_ENST00000446801.2_Silent_p.I319I|ZWILCH_ENST00000535141.2_Silent_p.I319I|ZWILCH_ENST00000565627.1_Silent_p.I319I	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	433					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AAGATTATATCAGTTTTTTCA	0.348																																																0													69	71	71					15																	66824728		2200	4298	6498	SO:0001819	synonymous_variant	55055			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1299C>T	15.37:g.66824728C>T			B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	CCDS10219.1																																																																																				0.348	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		T	66824728	C	T	66824728	2	4	364	1	0	0	0	0	0	0	0	1	18253	816	29	2		2	ZWILCH	15	66824728	Silent	SNP	C	TCGA-BP-4787-01A-01D-1373-10		66824728	35706664	41	20533											
UACA	55075	hgsc.bcm.edu	37	15	70963410	70963410	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr15:70963410T>C	ENST00000322954.6	-	15	1374	c.1189A>G	c.(1189-1191)Aaa>Gaa	p.K397E	UACA_ENST00000539319.1_Missense_Mutation_p.K288E|UACA_ENST00000379983.2_Missense_Mutation_p.K384E|UACA_ENST00000560441.1_Missense_Mutation_p.K382E	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	397					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGACCTTGTTTAAGAAGCATA	0.254																																																0													85	81	82					15																	70963410		2196	4278	6474	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1189A>G	15.37:g.70963410T>C	ENSP00000314556:p.Lys397Glu		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984074	0.74474	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.39787	1.06;1.08;1.41	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000003	T	0.48095	0.1481	M	0.69823	2.125	0.48762	D	0.999708	P;P;P;P	0.45768	0.853;0.701;0.866;0.694	P;B;P;B	0.46275	0.51;0.312;0.505;0.41	T	0.43032	-0.9416	10	0.16420	T	0.52	-26.8546	15.6028	0.76639	0.0:0.0:0.0:1.0	.	288;397;397;384	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	E	397;384;373;288	ENSP00000314556:K397E;ENSP00000369319:K384E;ENSP00000438667:K288E	ENSP00000314556:K397E	K	-	1	0	UACA	68750464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.618000	0.54188	2.330000	0.79161	0.477000	0.44152	AAA		0.254	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			C	70963410	T	C	70963410	3	2	364	1	0	0	0	0	1	0	0	0	16829	1763	61	3	3081	3	UACA	15	70963410	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10	4138682	70963410	31567982	42	20534											
GRIN2A	2903	hgsc.bcm.edu;ucsc.edu	37	16	9916232	9916232	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr16:9916232G>A	ENST00000396573.2	-	11	2366	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	GRIN2A_ENST00000535259.1_Missense_Mutation_p.P529L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P686L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P686L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P686L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P686L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	686					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTTCCATTAGGCACTGTCCC	0.448																																																0													133	113	120					16																	9916232		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2057C>T	16.37:g.9916232G>A	ENSP00000379818:p.Pro686Leu		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233149	0.95207	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.65	5.65	0.86999	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.995;1.0	T	0.07829	-1.0752	9	.	.	.	.	18.7287	0.91726	0.0:0.0:1.0:0.0	.	529;686;686	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	686;686;529;686;686	ENSP00000379818:P686L;ENSP00000385872:P686L;ENSP00000441572:P529L;ENSP00000332549:P686L;ENSP00000379820:P686L	.	P	-	2	0	GRIN2A	9823733	1.000000	0.71417	0.963000	0.40424	0.991000	0.79684	9.695000	0.98691	2.655000	0.90218	0.655000	0.94253	CCT		0.448	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			A	9916232	G	A	9916232	3	1	364	1	0	0	0	0	1	0	0	0	6781	1000	35	2	2353	2	GRIN2A	16	9916232	Missense_Mutation	SNP	G	TCGA-BP-4787-01A-01D-1373-10		9916232	80438521	43	20535											
CDH8	1006	hgsc.bcm.edu;ucsc.edu	37	16	61935249	61935249	+	Silent	SNP	C	C	T			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr16:61935249C>T	ENST00000577390.1	-	3	1335	c.381G>A	c.(379-381)gaG>gaA	p.E127E	CDH8_ENST00000584337.1_Silent_p.E127E|CDH8_ENST00000299345.6_Silent_p.E127E|CDH8_ENST00000577730.1_Silent_p.E127E	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	127	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAGCCTTTTCCTCCCGGTCAA	0.398																																																0													131	129	130					16																	61935249		2203	4300	6503	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.381G>A	16.37:g.61935249C>T			B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		T	61935249	C	T	61935249	2	4	364	1	0	0	0	0	0	0	0	1	3118	680	24	2		2	CDH8	16	61935249	Silent	SNP	C	TCGA-BP-4787-01A-01D-1373-10	52019017	61935249	28419504	44	20536											
CDH13	1012	hgsc.bcm.edu;ucsc.edu	37	16	83816959	83816959	+	Silent	SNP	C	C	A	rs532343859		TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr16:83816959C>A	ENST00000566620.1	+	13	2306	c.2016C>A	c.(2014-2016)atC>atA	p.I672I	CDH13_ENST00000428848.3_Silent_p.I633I|CDH13_ENST00000268613.10_Silent_p.I719I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	672	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGACGAATATCACAGATCTCA	0.527																																																0													99	96	97					16																	83816959		1972	4167	6139	SO:0001819	synonymous_variant	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.2016C>A	16.37:g.83816959C>A			A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1																																																																																				0.527	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		A	83816959	C	A	83816959	2	1	364	1	0	0	0	0	0	0	0	1	3101	816	29	4		4	CDH13	16	83816959	Silent	SNP	C	TCGA-BP-4787-01A-01D-1373-10	21881710	83816959	6537794	45	20537											
ACSF2	80221	hgsc.bcm.edu	37	17	48549820	48549820	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr17:48549820T>C	ENST00000300441.4	+	12	1459	c.1355T>C	c.(1354-1356)cTg>cCg	p.L452P	ACSF2_ENST00000427954.2_Missense_Mutation_p.L477P|ACSF2_ENST00000541920.1_Missense_Mutation_p.L292P|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000502667.1_Missense_Mutation_p.L439P|ACSF2_ENST00000504392.1_Missense_Mutation_p.L409P	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	452					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGGGACGCTGGCAAAGCTG	0.592																																																0													77	68	71					17																	48549820		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1355T>C	17.37:g.48549820T>C	ENSP00000300441:p.Leu452Pro		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651581	0.29336	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.09	3.9	0.45041	AMP-dependent synthetase/ligase (1);	1.629090	0.03468	N	0.213264	T	0.24005	0.0581	N	0.03294	-0.36	0.22127	N	0.999342	B;B;B;B	0.15719	0.014;0.014;0.014;0.014	B;B;B;B	0.21360	0.021;0.021;0.034;0.021	T	0.11817	-1.0572	10	0.40728	T	0.16	-4.6127	5.9835	0.19421	0.1615:0.095:0.0:0.7435	.	439;477;409;452	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	P	452;292;409;477;439	ENSP00000300441:L452P;ENSP00000437987:L292P;ENSP00000425964:L409P;ENSP00000401831:L477P;ENSP00000421884:L439P	ENSP00000300441:L452P	L	+	2	0	ACSF2	45904819	0.006000	0.16342	0.003000	0.11579	0.032000	0.12392	1.717000	0.37991	1.913000	0.55393	0.454000	0.30748	CTG		0.592	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		C	48549820	T	C	48549820	3	2	364	1	0	0	0	0	1	0	0	0	175	1580	55	3	1401	3	ACSF2	17	48549820	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10		48549820	32645390	46	20538											
SMURF2	64750	hgsc.bcm.edu	37	17	62551963	62551963	+	Missense_Mutation	SNP	G	G	C	rs142348673		TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr17:62551963G>C	ENST00000262435.9	-	14	1772	c.1585C>G	c.(1585-1587)Ctt>Gtt	p.L529V		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	529	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)	p.L529F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CTGTTGTGAAGATCCGGATCT	0.338																																																1	Substitution - Missense(1)	skin(1)											94	80	85					17																	62551963		2203	4300	6503	SO:0001583	missense	64750			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1585C>G	17.37:g.62551963G>C	ENSP00000262435:p.Leu529Val		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101165	0.37048	.	.	ENSG00000108854	ENST00000262435	T	0.59224	0.28	5.48	5.48	0.80851	HECT (4);	0.059671	0.64402	D	0.000003	T	0.76392	0.3981	M	0.71871	2.18	0.80722	D	1	D	0.60160	0.987	D	0.87578	0.998	T	0.75634	-0.3250	10	0.45353	T	0.12	.	19.346	0.94362	0.0:0.0:1.0:0.0	.	529	Q9HAU4	SMUF2_HUMAN	V	529	ENSP00000262435:L529V	ENSP00000262435:L529V	L	-	1	0	SMURF2	59982425	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.924000	0.87555	2.560000	0.86352	0.563000	0.77884	CTT		0.338	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		C	62551963	G	C	62551963	3	2	364	1	0	0	0	0	1	0	0	0	14826	942	33	4	685	4	SMURF2	17	62551963	Missense_Mutation	SNP	G	TCGA-BP-4787-01A-01D-1373-10	14002143	62551963	18643247	47	20539											
DSC2	1824	hgsc.bcm.edu	37	18	28647999	28648000	+	Frame_Shift_Ins	INS	-	-	TC	rs200056085	byFrequency	TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr18:28647999_28648000insTC	ENST00000280904.6	-	16	3130_3131	c.2687_2688insGA	c.(2686-2688)gaafs	p.E896fs	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	896					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCATGCATGCTTCTGCTAGTGT	0.386														18	0.00359425	0.0	0.0086	5008	,	,		14699	0.0		0.0099	False		,,,				2504	0.002															0			GRCh37	CI065824	DSC2	I			,	9,4255		0,9,2123					,	5.9	0.9			73	111,8143		0,111,4016	no	frameshift,utr-3	DSC2	NM_024422.3,NM_004949.3	,	0,120,6139	A1A1,A1R,RR		1.3448,0.2111,0.9586	,	,		120,12398				SO:0001589	frameshift_variant	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2686_2687dupGA	18.37:g.28648000_28648001dupTC	ENSP00000280904:p.Glu896fs			Frame_Shift_Ins	INS	ENST00000280904.6	37	CCDS11892.1																																																																																				0.386	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		TC	28648000	-	TC	28647999	7	5	364	1	0	1	1	0	0	0	0	0	4768	1606	56	0	21	0	DSC2	18	28647999	Frame_Shift_Ins	INS	-	TCGA-BP-4787-01A-01D-1373-10		28647999	49429249	48	20540											
CYP4F11	57834	hgsc.bcm.edu	37	19	16024651	16024651	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr19:16024651A>C	ENST00000402119.4	-	12	1892	c.1466T>G	c.(1465-1467)tTc>tGc	p.F489C	CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000591841.1_Missense_Mutation_p.F164C|CYP4F11_ENST00000248041.8_Missense_Mutation_p.F489C	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAGGATGCGGAAGTGCAGCAG	0.627																																																0													69	61	63					19																	16024651		2203	4300	6503	SO:0001583	missense	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1466T>G	19.37:g.16024651A>C	ENSP00000384588:p.Phe489Cys			Missense_Mutation	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	a	13.10	2.137461	0.37728	.	.	ENSG00000171903	ENST00000402119;ENST00000248041	D;D	0.85339	-1.97;-1.97	2.74	2.74	0.32292	.	0.000000	0.64402	U	0.000001	D	0.92202	0.7527	M	0.90425	3.115	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92074	0.5667	10	0.87932	D	0	.	8.919	0.35599	1.0:0.0:0.0:0.0	.	489	Q9HBI6	CP4FB_HUMAN	C	489	ENSP00000384588:F489C;ENSP00000248041:F489C	ENSP00000248041:F489C	F	-	2	0	CYP4F11	15885651	1.000000	0.71417	0.998000	0.56505	0.074000	0.17049	7.950000	0.87804	1.240000	0.43803	0.379000	0.24179	TTC		0.627	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		C	16024651	A	C	16024651	3	2	364	1	0	0	0	0	1	0	0	0	4188	246	9	5	112	5	CYP4F11	19	16024651	Missense_Mutation	SNP	A	TCGA-BP-4787-01A-01D-1373-10		16024651	43104332	49	20541											
CEACAM1	634	hgsc.bcm.edu;ucsc.edu	37	19	43023295	43023295	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr19:43023295T>A	ENST00000161559.6	-	5	1185	c.1051A>T	c.(1051-1053)Aat>Tat	p.N351Y	CEACAM1_ENST00000599389.1_Intron|CEACAM1_ENST00000403444.3_Missense_Mutation_p.N351Y|CEACAM1_ENST00000403461.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000352591.5_Intron|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	351	Ig-like C2-type 3.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCAGTGTCATTTGTGGAGCAG	0.512																																																0													201	176	185					19																	43023295		2203	4300	6503	SO:0001583	missense	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.1051A>T	19.37:g.43023295T>A	ENSP00000161559:p.Asn351Tyr		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	t	15.29	2.790394	0.50102	.	.	ENSG00000079385	ENST00000161559;ENST00000446434;ENST00000378065;ENST00000403444;ENST00000377806	T;T	0.21932	1.98;1.98	4.83	-0.314	0.12750	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37785	0.1016	M	0.69248	2.105	0.09310	N	1	D;D;D;D	0.69078	0.989;0.969;0.997;0.995	P;P;P;D	0.68943	0.656;0.656;0.891;0.961	T	0.15809	-1.0424	9	0.51188	T	0.08	.	8.2172	0.31519	0.0:0.461:0.0:0.539	.	351;351;351;351	P13688-10;P13688-2;P13688-8;P13688	.;.;.;CEAM1_HUMAN	Y	351;378;311;351;351	ENSP00000161559:N351Y;ENSP00000384709:N351Y	ENSP00000161559:N351Y	N	-	1	0	CEACAM1	47715135	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-0.256000	0.08757	-0.035000	0.13691	0.460000	0.39030	AAT		0.512	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		A	43023295	T	A	43023295	3	1	364	1	0	0	0	0	1	0	0	0	3189	1841	64	5	646	5	CEACAM1	19	43023295	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10	26998644	43023295	16105688	50	20542											
ZC3H7B	23264	hgsc.bcm.edu;ucsc.edu	37	22	41721776	41721776	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chr22:41721776T>A	ENST00000352645.4	+	4	396	c.139T>A	c.(139-141)Ttc>Atc	p.F47I	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.F47I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	47					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAATGATCTGTTCCGGGAGAA	0.602																																																0													72	61	65					22																	41721776		2203	4300	6503	SO:0001583	missense	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.139T>A	22.37:g.41721776T>A	ENSP00000345793:p.Phe47Ile		A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987897	0.93106	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.62941	-0.01;-0.01	4.92	4.92	0.64577	Tetratricopeptide-like helical (1);	0.197922	0.46442	D	0.000285	T	0.81541	0.4844	M	0.88704	2.975	0.46654	D	0.999148	D;D	0.76494	0.999;0.975	D;P	0.72982	0.979;0.863	D	0.85665	0.1291	10	0.87932	D	0	-26.5151	14.5596	0.68126	0.0:0.0:0.0:1.0	.	47;47	Q9UGR2-2;Q9UGR2	.;Z3H7B_HUMAN	I	47	ENSP00000345793:F47I;ENSP00000263243:F47I	ENSP00000263243:F47I	F	+	1	0	ZC3H7B	40051722	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.246000	0.78247	1.842000	0.53543	0.459000	0.35465	TTC		0.602	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		A	41721776	T	A	41721776	3	1	364	1	0	0	0	0	1	0	0	0	17578	1725	60	5	149	5	ZC3H7B	22	41721776	Missense_Mutation	SNP	T	TCGA-BP-4787-01A-01D-1373-10		41721776	9582790	51	20543											
AMOT	154796	hgsc.bcm.edu	37	X	112022297	112022298	+	In_Frame_Ins	INS	-	-	AGG	rs373265985|rs147791784		TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chrX:112022297_112022298insAGG	ENST00000524145.1	-	11	3158_3159	c.3084_3085insCCT	c.(3082-3087)cctgca>cctCCTgca	p.1028_1029insP	MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371959.3_In_Frame_Ins_p.1028_1029insP|AMOT_ENST00000371962.1_In_Frame_Ins_p.796_797insP|AMOT_ENST00000304758.1_In_Frame_Ins_p.619_620insP			Q4VCS5	AMOT_HUMAN	angiomotin	1028					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GCTGGACTTGCAGGAACCTCAG	0.525														154	0.0407947	0.0242	0.0346	3775	,	,		13612	0.0		0.0706	False		,,,				2504	0.0276															0									,	118,3603		1,92,24,1499,513					,	3.4	1		dbSNP_134	104	510,5974		11,346,142,2000,1628	no	coding,coding	AMOT	NM_133265.2,NM_001113490.1	,	12,438,166,3499,2141	A1A1,A1R,A1,RR,R		7.8655,3.1712,6.1538	,	,		628,9577				SO:0001652	inframe_insertion	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.3082_3084dupCCT	X.37:g.112022298_112022300dupAGG	ENSP00000429013:p.Pro1028_Pro1028dup		Q504X5|Q9HD27|Q9UPT1	In_Frame_Ins	INS	ENST00000524145.1	37	CCDS48154.1																																																																																				0.525	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		AGG	112022298	-	AGG	112022297	7	5	364	1	0	1	1	0	0	0	0	0	582	710	25	0	177	0	AMOT	23	112022297	In_Frame_Ins	INS	-	TCGA-BP-4787-01A-01D-1373-10		112022297	43248263	52	20544											
GABRA3	2556	hgsc.bcm.edu;ucsc.edu	37	X	151336969	151336969	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4787-01A-01D-1373-10	TCGA-BP-4787-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9df0698d-bfe4-4afc-aaab-720a9471b04b	eef34c03-44b0-4812-ae4d-6496b1ccd643	g.chrX:151336969G>C	ENST00000370314.4	-	10	1448	c.1210C>G	c.(1210-1212)Ccc>Gcc	p.P404A	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.P404A	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	404					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGGTTGATGGGATAGGTGGTC	0.547																																					NSCLC(142;2578 2613 10251 16743)											0													294	238	257					X																	151336969		2203	4300	6503	SO:0001583	missense	2556				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1210C>G	X.37:g.151336969G>C	ENSP00000359337:p.Pro404Ala		Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219442	0.22373	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.81499	-1.5;-1.5;-1.5	4.71	3.78	0.43462	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.331462	0.27906	N	0.017365	T	0.55226	0.1907	N	0.04746	-0.17	0.35719	D	0.817018	B	0.02656	0.0	B	0.01281	0.0	T	0.54735	-0.8249	10	0.12430	T	0.62	.	6.0565	0.19815	0.0:0.2707:0.5446:0.1847	.	404	P34903	GBRA3_HUMAN	A	404	ENSP00000359337:P404A;ENSP00000359334:P404A;ENSP00000443527:P404A	ENSP00000359334:P404A	P	-	1	0	GABRA3	151087625	0.994000	0.37717	0.999000	0.59377	0.972000	0.66771	1.720000	0.38022	2.069000	0.61940	0.597000	0.82753	CCC		0.547	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		C	151336969	G	C	151336969	3	2	364	1	0	0	0	0	1	0	0	0	6164	1174	41	4	272	4	GABRA3	23	151336969	Missense_Mutation	SNP	G	TCGA-BP-4787-01A-01D-1373-10	39314672	151336969	3933591	53	20545											
VHL	7428	hgsc.bcm.edu	37	3	10183817	10183817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4789-01A-01W-1369-10	TCGA-BP-4789-11A-01W-1369-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	379e77cc-5bd5-4def-b4a5-84bcded28d18	5f6770ed-4d85-47ef-805f-14faf3c12c0b	g.chr3:10183817C>T	ENST00000256474.2	+	1	1126	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.Q96*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	96			Missing (in VHLD; type I).|Q -> P (in VHLD; type I). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q96*(7)|p.P95_P99del(1)|p.E94fs*62(1)|p.R60fs*35(1)|p.E94fs*34(1)|p.Q96fs*36(1)|p.Q96del(1)|p.Q96fs*63(1)|p.P95fs*59(1)|p.Q96fs*61(1)|p.Q96fs*65(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGGCGAGCCGCAGCCCTACCC	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Substitution - Nonsense(7)|Deletion - Frameshift(6)|Deletion - In frame(2)|Insertion - Frameshift(2)	kidney(16)|soft_tissue(1)	GRCh37	CM982002	VHL	M							13	15	14					3																	10183817		1792	3692	5484	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.286C>T	3.37:g.10183817C>T	ENSP00000256474:p.Gln96*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	36	5.615161	0.96649	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.16	4.19	0.49359	.	0.335703	0.32055	N	0.006651	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7234	14.0258	0.64584	0.1615:0.8385:0.0:0.0	.	.	.	.	X	96	.	ENSP00000256474:Q96X	Q	+	1	0	VHL	10158817	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.360000	0.44151	2.416000	0.81992	0.550000	0.68814	CAG		0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183817	C	T	10183817	4	4	365	1	0	0	0	0	0	1	0	0	17167	711	25	2	288	2	VHL	3	10183817	Nonsense_Mutation	SNP	C	TCGA-BP-4789-01A-01W-1369-10		10183817	187838613	1	20546											
SPTA1	6708	hgsc.bcm.edu	37	1	158585040	158585040	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr1:158585040T>C	ENST00000368147.4	-	48	6934	c.6754A>G	c.(6754-6756)Atg>Gtg	p.M2252V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2252					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGTGTTGCATCCGCAACCCA	0.537																																																0													144	151	149					1																	158585040		2134	4253	6387	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6754A>G	1.37:g.158585040T>C	ENSP00000357129:p.Met2252Val		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119511	0.56505	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50001	0.76;0.76	5.54	5.54	0.83059	.	0.199975	0.24901	N	0.034694	T	0.62245	0.2412	M	0.83483	2.645	0.49483	D	0.999791	D	0.55800	0.973	D	0.64237	0.923	T	0.65759	-0.6090	10	0.48119	T	0.1	.	14.6598	0.68861	0.0:0.0:0.0:1.0	.	2252	P02549	SPTA1_HUMAN	V	2252;2249	ENSP00000357130:M2252V;ENSP00000357129:M2249V	ENSP00000357129:M2249V	M	-	1	0	SPTA1	156851664	1.000000	0.71417	0.997000	0.53966	0.781000	0.44180	7.303000	0.78871	2.326000	0.78906	0.533000	0.62120	ATG		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158585040	T	C	158585040	3	2	366	1	0	0	0	0	1	0	0	0	15121	1435	50	3	525	3	SPTA1	1	158585040	Missense_Mutation	SNP	T	TCGA-BP-4790-01A-01D-1373-10		158585040	90665581	1	20547											
WDR26	80232	hgsc.bcm.edu;ucsc.edu	37	1	224586648	224586648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr1:224586648G>T	ENST00000414423.2	-	10	1701	c.1508C>A	c.(1507-1509)tCa>tAa	p.S503*	MIR4742_ENST00000581069.1_RNA|WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000479727.1_5'UTR|WDR26_ENST00000295024.6_Nonsense_Mutation_p.S356*	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	503						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTGTGTATCTGATGCCAGAAC	0.413																																																0													155	138	144					1																	224586648		2203	4300	6503	SO:0001587	stop_gained	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1508C>A	1.37:g.224586648G>T	ENSP00000408108:p.Ser503*		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Nonsense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	G	40	8.325504	0.98762	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	18.5882	0.91199	0.0:0.0:1.0:0.0	.	.	.	.	X	503;356	.	ENSP00000295024:S356X	S	-	2	0	WDR26	222653271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.467000	0.83353	0.655000	0.94253	TCA		0.413	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		T	224586648	G	T	224586648	4	4	366	1	0	0	0	0	0	1	0	0	17288	1294	45	4	497	4	WDR26	1	224586648	Nonsense_Mutation	SNP	G	TCGA-BP-4790-01A-01D-1373-10	66001608	224586648	24663973	2	20548											
KIAA1310	55683	hgsc.bcm.edu;ucsc.edu	37	2	97270575	97270575	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr2:97270575C>T	ENST00000431828.1	-	16	2035	c.1959G>A	c.(1957-1959)atG>atA	p.M653I	KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000599854.1_Missense_Mutation_p.M566I|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.M473I			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	679					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GCCCCAGTGTCATGGTGATGG	0.527																																																0													54	53	53					2																	97270575		1952	4162	6114	SO:0001583	missense	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1959G>A	2.37:g.97270575C>T	ENSP00000396749:p.Met653Ile		A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091792	0.36952	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.42900	0.96;0.97	5.92	5.05	0.67936	.	0.342566	0.35615	N	0.003096	T	0.24314	0.0589	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.13594	0.002;0.008;0.001;0.003;0.002	B;B;B;B;B	0.11329	0.004;0.006;0.001;0.006;0.004	T	0.07673	-1.0760	10	0.23302	T	0.38	.	9.1966	0.37231	0.0:0.8377:0.0:0.1623	.	447;679;653;564;539	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	I	566;539;653;473;447	ENSP00000396749:M653I;ENSP00000406207:M473I	ENSP00000346144:M566I	M	-	3	0	KIAA1310	96634302	1.000000	0.71417	0.905000	0.35620	0.935000	0.57460	2.149000	0.42244	1.523000	0.49018	0.650000	0.86243	ATG		0.527	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		T	97270575	C	T	97270575	3	4	366	1	0	0	0	0	1	0	0	0	8224	826	29	2	701	2	KIAA1310	2	97270575	Missense_Mutation	SNP	C	TCGA-BP-4790-01A-01D-1373-10		97270575	145928798	3	20549											
IL18RAP	8807	hgsc.bcm.edu;ucsc.edu	37	2	103068343	103068343	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr2:103068343C>T	ENST00000264260.2	+	12	2091	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	IL18RAP_ENST00000409369.1_Missense_Mutation_p.A359V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	501	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTGAATCTTGCCTTGGATGAT	0.398																																																0													126	128	127					2																	103068343		2203	4300	6503	SO:0001583	missense	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1502C>T	2.37:g.103068343C>T	ENSP00000264260:p.Ala501Val		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504285	0.85176	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.10005	2.92;2.92	6.02	6.02	0.97574	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000002	T	0.30603	0.0770	M	0.65975	2.015	0.38419	D	0.946124	D	0.71674	0.998	D	0.72338	0.977	T	0.00792	-1.1564	10	0.42905	T	0.14	.	14.657	0.68841	0.0:0.9312:0.0:0.0688	.	501	O95256	I18RA_HUMAN	V	501;359	ENSP00000264260:A501V;ENSP00000387201:A359V	ENSP00000264260:A501V	A	+	2	0	IL18RAP	102434775	0.997000	0.39634	1.000000	0.80357	0.965000	0.64279	2.641000	0.46587	2.857000	0.98124	0.650000	0.86243	GCC		0.398	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		T	103068343	C	T	103068343	3	4	366	1	0	0	0	0	1	0	0	0	7650	739	26	2	1540	2	IL18RAP	2	103068343	Missense_Mutation	SNP	C	TCGA-BP-4790-01A-01D-1373-10	5797768	103068343	140131030	4	20550											
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47142965	47142965	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr3:47142965A>C	ENST00000409792.3	-	8	5040	c.4998T>G	c.(4996-4998)taT>taG	p.Y1666*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1666	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTGGAACTGATAGTCAAACG	0.378			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													165	169	167					3																	47142965		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4998T>G	3.37:g.47142965A>C	ENSP00000386759:p.Tyr1666*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	45	11.350739	0.99550	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.94	1.11	0.20524	.	0.000000	0.48767	D	0.000170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6335	0.33933	0.4473:0.0:0.5527:0.0	.	.	.	.	X	1666	.	ENSP00000386759:Y1666X	Y	-	3	2	SETD2	47117969	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.680000	0.54641	0.175000	0.19841	0.528000	0.53228	TAT		0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		C	47142965	A	C	47142965	4	2	366	1	0	0	0	0	0	1	0	0	14137	340	12	5	2752	5	SETD2	3	47142965	Nonsense_Mutation	SNP	A	TCGA-BP-4790-01A-01D-1373-10		47142965	150879465	5	20551											
EVC	2121	hgsc.bcm.edu	37	4	5755604	5755604	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr4:5755604C>G	ENST00000264956.6	+	10	1592	c.1408C>G	c.(1408-1410)Cag>Gag	p.Q470E	EVC_ENST00000382674.2_Missense_Mutation_p.Q470E|EVC_ENST00000509451.1_Missense_Mutation_p.Q470E	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	470					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGAGGAGGAACAGAGAAGCTT	0.592																																																0													87	81	83					4																	5755604		2203	4300	6503	SO:0001583	missense	2121			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1408C>G	4.37:g.5755604C>G	ENSP00000264956:p.Gln470Glu			Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216750	0.22373	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.53640	0.61;0.61;0.68	5.04	4.1	0.47936	.	0.444472	0.21795	N	0.069019	T	0.37237	0.0996	L	0.34521	1.04	0.18873	N	0.999989	B	0.15473	0.013	B	0.19391	0.025	T	0.31998	-0.9923	10	0.54805	T	0.06	.	11.5255	0.50578	0.2604:0.7396:0.0:0.0	.	470	P57679	EVC_HUMAN	E	470	ENSP00000264956:Q470E;ENSP00000372120:Q470E;ENSP00000426774:Q470E	ENSP00000264956:Q470E	Q	+	1	0	EVC	5806505	0.001000	0.12720	0.030000	0.17652	0.051000	0.14879	1.048000	0.30379	2.354000	0.79902	0.561000	0.74099	CAG		0.592	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			G	5755604	C	G	5755604	3	3	366	1	0	0	0	0	1	0	0	0	5287	479	17	4	1446	4	EVC	4	5755604	Missense_Mutation	SNP	C	TCGA-BP-4790-01A-01D-1373-10		5755604	185398672	6	20552											
KIAA0232	9778	hgsc.bcm.edu;ucsc.edu	37	4	6862718	6862718	+	Silent	SNP	C	C	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr4:6862718C>T	ENST00000307659.5	+	7	1064	c.609C>T	c.(607-609)taC>taT	p.Y203Y	KIAA0232_ENST00000425103.1_Silent_p.Y203Y	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	203	Poly-Ser.						ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCTGTTCTTACTCTAGCTCTT	0.438																																																0													129	133	131					4																	6862718		2039	4189	6228	SO:0001819	synonymous_variant	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.609C>T	4.37:g.6862718C>T			A7E2D2	Silent	SNP	ENST00000307659.5	37	CCDS43209.1																																																																																				0.438	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		T	6862718	C	T	6862718	2	4	366	1	0	0	0	0	0	0	0	1	8165	576	20	2		2	KIAA0232	4	6862718	Silent	SNP	C	TCGA-BP-4790-01A-01D-1373-10	1107114	6862718	184291558	7	20553											
RAPGEF6	51735	hgsc.bcm.edu	37	5	130928142	130928142	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr5:130928142C>A	ENST00000509018.1	-	4	420	c.215G>T	c.(214-216)aGa>aTa	p.R72I	RAPGEF6_ENST00000503398.2_5'Flank|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.R122I|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R72I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.R72I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R72I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R72I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R72I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	72					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATACCAACATCTGGCAATCGT	0.348																																					Melanoma(168;435 1955 13113 13877 23213)											0													89	74	79					5																	130928142		2203	4300	6503	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.215G>T	5.37:g.130928142C>A	ENSP00000421684:p.Arg72Ile		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317676	0.60524	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.185071	0.34853	N	0.003627	T	0.40694	0.1127	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B;P	0.35174	0.041;0.041;0.061;0.041;0.115;0.488	B;B;B;B;B;B	0.29862	0.013;0.013;0.029;0.018;0.045;0.108	T	0.47812	-0.9088	10	0.62326	D	0.03	.	16.8241	0.85926	0.0:1.0:0.0:0.0	.	72;72;72;122;72;72	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	I	72;72;72;72;72;72;72;122	ENSP00000421684:R72I;ENSP00000309298:R72I;ENSP00000426081:R72I;ENSP00000296859:R72I;ENSP00000311419:R72I;ENSP00000425389:R72I;ENSP00000426948:R122I	ENSP00000426948:R122I	R	-	2	0	RAPGEF6;FNIP1	130956041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.696000	0.61774	2.317000	0.78254	0.563000	0.77884	AGA		0.348	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		A	130928142	C	A	130928142	3	1	366	1	0	0	0	0	1	0	0	0	13054	913	32	4	5176	4	RAPGEF6	5	130928142	Missense_Mutation	SNP	C	TCGA-BP-4790-01A-01D-1373-10		130928142	49987118	8	20554											
ZNF354C	30832	hgsc.bcm.edu	37	5	178506270	178506270	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr5:178506270G>T	ENST00000315475.6	+	5	1143	c.837G>T	c.(835-837)aaG>aaT	p.K279N		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AATGTGAGAAGGCATTTAGCA	0.408																																																0													98	97	97					5																	178506270		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.837G>T	5.37:g.178506270G>T	ENSP00000324064:p.Lys279Asn		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301117	0.40694	.	.	ENSG00000177932	ENST00000315475	T	0.07908	3.15	3.8	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29976	0.0750	M	0.91972	3.26	0.31054	N	0.714862	D	0.89917	1.0	D	0.78314	0.991	T	0.18777	-1.0326	9	0.62326	D	0.03	-19.281	8.0971	0.30835	0.6088:0.0:0.3912:0.0	.	279	Q86Y25	Z354C_HUMAN	N	279	ENSP00000324064:K279N	ENSP00000324064:K279N	K	+	3	2	ZNF354C	178438876	0.237000	0.23815	0.913000	0.36048	0.640000	0.38277	0.889000	0.28282	-0.400000	0.07656	-0.312000	0.09012	AAG		0.408	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			T	178506270	G	T	178506270	3	4	366	1	0	0	0	0	1	0	0	0	17871	991	35	4	851	4	ZNF354C	5	178506270	Missense_Mutation	SNP	G	TCGA-BP-4790-01A-01D-1373-10	47578128	178506270	2408990	9	20555											
OGDH	4967	hgsc.bcm.edu;ucsc.edu	37	7	44747245	44747245	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr7:44747245C>T	ENST00000222673.5	+	22	2903	c.2861C>T	c.(2860-2862)gCc>gTc	p.A954V	OGDH_ENST00000543843.1_Missense_Mutation_p.A905V|OGDH_ENST00000447398.1_Missense_Mutation_p.A965V|OGDH_ENST00000439616.2_Missense_Mutation_p.A804V|OGDH_ENST00000444676.1_Missense_Mutation_p.A969V|OGDH_ENST00000449767.1_Missense_Mutation_p.A950V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	954					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GCTGAGCTGGCCTGGTGCCAG	0.562																																																0													127	110	116					7																	44747245		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2861C>T	7.37:g.44747245C>T	ENSP00000222673:p.Ala954Val		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	5.624	0.299855	0.10622	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82	5.24	2.47	0.30058	.	0.316027	0.34555	N	0.003872	T	0.01870	0.0059	N	0.00277	-1.72	0.34188	D	0.671675	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.41413	-0.9510	10	0.02654	T	1	-18.3061	7.3766	0.26831	0.0:0.5161:0.0:0.4839	.	749;804;950;965;954	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	V	804;950;965;969;954;905	ENSP00000398576:A804V;ENSP00000392878:A950V;ENSP00000388183:A965V;ENSP00000414662:A969V;ENSP00000222673:A954V;ENSP00000443821:A905V	ENSP00000222673:A954V	A	+	2	0	OGDH	44713770	0.986000	0.35501	0.998000	0.56505	0.986000	0.74619	1.771000	0.38542	0.229000	0.21039	-0.339000	0.08088	GCC		0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			T	44747245	C	T	44747245	3	4	366	1	0	0	0	0	1	0	0	0	10841	739	26	2	3116	2	OGDH	7	44747245	Missense_Mutation	SNP	C	TCGA-BP-4790-01A-01D-1373-10		44747245	114391418	10	20556											
GRM8	2918	hgsc.bcm.edu;ucsc.edu	37	7	126883202	126883202	+	Silent	SNP	G	G	A			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr7:126883202G>A	ENST00000339582.2	-	2	865	c.57C>T	c.(55-57)gcC>gcT	p.A19A	GRM8_ENST00000405249.1_Silent_p.A19A|GRM8_ENST00000444921.2_Silent_p.A19A|GRM8_ENST00000358373.3_Silent_p.A19A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	19					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGTAGAACTTGGCGGTCAAGA	0.488										HNSCC(24;0.065)																																						0													86	83	84					7																	126883202		2203	4300	6503	SO:0001819	synonymous_variant	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.57C>T	7.37:g.126883202G>A			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				0.488	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			A	126883202	G	A	126883202	2	1	366	1	0	0	0	0	0	0	0	1	6805	1335	47	2		2	GRM8	7	126883202	Silent	SNP	G	TCGA-BP-4790-01A-01D-1373-10	82135957	126883202	32255461	11	20557											
GADD45G	10912	hgsc.bcm.edu	37	9	92220937	92220937	+	Silent	SNP	T	T	C			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr9:92220937T>C	ENST00000252506.6	+	4	532	c.423T>C	c.(421-423)ttT>ttC	p.F141F	GADD45G_ENST00000494726.1_3'UTR|GADD45G_ENST00000375769.1_Silent_p.F123F	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	141					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)	2						TCAGCCTGTTTTGCGAGGAGA	0.677																																					Colon(131;320 2336 18973 23919)											0													48	49	49					9																	92220937		2203	4300	6503	SO:0001819	synonymous_variant	10912			D83023	CCDS6686.1	9q22.1-q22.2	2008-07-21			ENSG00000130222	ENSG00000130222			4097	protein-coding gene	gene with protein product	"gadd-related protein, 17 kD", "growth arrest and DNA-damage-inducible gamma"	604949				9827804, 10496071	Standard	NM_006705		Approved	DDIT2, GADD45gamma, GRP17, CR6	uc004aqq.3	O95257	OTTHUMG00000020187	ENST00000252506.6:c.423T>C	9.37:g.92220937T>C			Q5VZ87|Q9C076	Silent	SNP	ENST00000252506.6	37	CCDS6686.1																																																																																				0.677	GADD45G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053000.1	NM_006705		C	92220937	T	C	92220937	2	2	366	1	0	0	0	0	0	0	0	1	6185	1838	64	3		3	GADD45G	9	92220937	Silent	SNP	T	TCGA-BP-4790-01A-01D-1373-10		92220937	48992494	12	20558											
PGBD3	267004	hgsc.bcm.edu	37	10	50725062	50725062	+	Silent	SNP	A	A	T	rs368221420		TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr10:50725062A>T	ENST00000374127.3	-	2	300	c.99T>A	c.(97-99)gcT>gcA	p.A33A	ERCC6-PGBD3_ENST00000515869.1_Silent_p.A501A|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Silent_p.A501A|PGBD3_ENST00000603152.1_Silent_p.A501A|PGBD3_ENST00000508005.2_Silent_p.A33A	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	33										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						CAGGTGCTGTAGCATTTTCAG	0.403													A|||	1	0.000199681	0.0	0.0	5008	,	,		20605	0.0		0.001	False		,,,				2504	0.0															0								A	,	1,4405	2.1+/-5.4	0,1,2202	134	134	134		,99	-0.7	0.7	10		134	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	ERCC6,PGBD3	NM_000124.2,NM_170753.2	,	0,2,6501	TT,TA,AA		0.0116,0.0227,0.0154	,	,33/594	50725062	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	267004			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.99T>A	10.37:g.50725062A>T			B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	CCDS7230.1																																																																																				0.403	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			T	50725062	A	T	50725062	2	4	366	1	0	0	0	0	0	0	0	1	11784	407	15	5		5	PGBD3	10	50725062	Silent	SNP	A	TCGA-BP-4790-01A-01D-1373-10		50725062	84809685	13	20559											
ZMYND17	118490	hgsc.bcm.edu	37	10	75186103	75186103	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr10:75186103A>G	ENST00000372912.1	-	4	537	c.535T>C	c.(535-537)Tgg>Cgg	p.W179R	AL353731.1_ENST00000584907.1_RNA|MSS51_ENST00000299432.2_Missense_Mutation_p.W179R			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	179					social behavior (GO:0035176)		metal ion binding (GO:0046872)										TCAGGTGGCCATGGCCAAGGT	0.458																																																0													73	76	75					10																	75186103		2201	4299	6500	SO:0001583	missense	0			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"Zinc fingers, MYND-type"	21000	protein-coding gene	gene with protein product		614773	"zinc finger, MYND-type containing 17", "MSS51 mitochondrial translational activator homolog (S. cerevisiae)"	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.535T>C	10.37:g.75186103A>G	ENSP00000362003:p.Trp179Arg		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	A	1.079	-0.667623	0.03428	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.43294	0.95;0.95	5.1	3.96	0.45880	.	0.326559	0.31301	N	0.007895	T	0.24661	0.0598	L	0.28274	0.84	0.28741	N	0.901946	B	0.14438	0.01	B	0.11329	0.006	T	0.12630	-1.0540	9	.	.	.	1.6176	4.5239	0.11973	0.7398:0.0:0.0904:0.1698	.	179	Q4VC12	ZMY17_HUMAN	R	179	ENSP00000299432:W179R;ENSP00000362003:W179R	.	W	-	1	0	ZMYND17	74856109	0.939000	0.31865	0.942000	0.38095	0.840000	0.47671	0.480000	0.22244	0.958000	0.37956	0.477000	0.44152	TGG		0.458	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		G	75186103	A	G	75186103	3	3	366	1	0	0	0	0	1	0	0	0	17714	217	8	3	859	3	ZMYND17	10	75186103	Missense_Mutation	SNP	A	TCGA-BP-4790-01A-01D-1373-10	24461041	75186103	60348644	14	20560											
OR51V1	283111	hgsc.bcm.edu	37	11	5221519	5221519	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr11:5221519G>T	ENST00000321255.1	-	1	411	c.412C>A	c.(412-414)Cca>Aca	p.P138T		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	138					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)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAACGTAGTGGATTGCAAATT	0.433																																																0													59	60	59					11																	5221519		2201	4298	6499	SO:0001583	missense	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.412C>A	11.37:g.5221519G>T	ENSP00000321729:p.Pro138Thr			Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010683	0.75046	.	.	ENSG00000176742	ENST00000321255	T	0.01887	4.58	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	T	0.28699	0.0711	H	0.99444	4.57	0.51482	D	0.999925	D	0.89917	1.0	D	0.97110	1.0	T	0.57165	-0.7858	10	0.87932	D	0	.	17.5935	0.88004	0.0:0.0:1.0:0.0	.	138	Q9H2C8	O51V1_HUMAN	T	138	ENSP00000321729:P138T	ENSP00000321729:P138T	P	-	1	0	OR51V1	5178095	1.000000	0.71417	0.936000	0.37596	0.668000	0.39293	7.071000	0.76770	2.738000	0.93877	0.650000	0.86243	CCA		0.433	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		T	5221519	G	T	5221519	3	4	366	1	0	0	0	0	1	0	0	0	11109	1174	41	4	556	4	OR51V1	11	5221519	Missense_Mutation	SNP	G	TCGA-BP-4790-01A-01D-1373-10		5221519	129784997	15	20561											
PRDM10	56980	hgsc.bcm.edu	37	11	129782003	129782003	+	Missense_Mutation	SNP	C	C	G	rs141397814	byFrequency	TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr11:129782003C>G	ENST00000360871.3	-	18	3190	c.2959G>C	c.(2959-2961)Gcc>Ccc	p.A987P	PRDM10_ENST00000526082.1_Missense_Mutation_p.A905P|PRDM10_ENST00000423662.2_Intron|PRDM10_ENST00000358825.5_Missense_Mutation_p.A991P|PRDM10_ENST00000304538.6_Intron|PRDM10_ENST00000528746.1_Intron	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	984	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGGGCCGAGGCGGTAGGCTCG	0.577																																																0													135	120	125					11																	129782003		2201	4297	6498	SO:0001583	missense	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2959G>C	11.37:g.129782003C>G	ENSP00000354118:p.Ala987Pro		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756825	0.31137	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000526082;ENST00000533431	T;T;T;T	0.10860	2.86;2.85;2.83;2.92	5.77	-11.5	0.00074	.	0.722330	0.13716	N	0.367722	T	0.02970	0.0088	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.20306	-1.0279	10	0.34782	T	0.22	-1.1124	0.9101	0.01293	0.2277:0.1475:0.2803:0.3445	.	901;987;905	B7ZL72;G3XAE5;Q9NQV6-5	.;.;.	P	991;987;905;704	ENSP00000351686:A991P;ENSP00000354118:A987P;ENSP00000432237:A905P;ENSP00000435940:A704P	ENSP00000351686:A991P	A	-	1	0	PRDM10	129287213	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.080000	0.03407	-3.062000	0.00256	-0.136000	0.14681	GCC		0.577	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		G	129782003	C	G	129782003	3	3	366	1	0	0	0	0	1	0	0	0	12456	768	27	4	527	4	PRDM10	11	129782003	Missense_Mutation	SNP	C	TCGA-BP-4790-01A-01D-1373-10	124560484	129782003	5224513	16	20562											
LDHB	3945	hgsc.bcm.edu;ucsc.edu	37	12	21791314	21791314	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr12:21791314T>A	ENST00000396076.1	-	6	1018	c.686A>T	c.(685-687)aAg>aTg	p.K229M	LDHB_ENST00000350669.1_Missense_Mutation_p.K229M	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	229					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						ATGCACTTCCTTCCAATTTTC	0.353																																																0													130	126	128					12																	21791314		2203	4300	6503	SO:0001583	missense	3945				CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.686A>T	12.37:g.21791314T>A	ENSP00000379386:p.Lys229Met			Missense_Mutation	SNP	ENST00000396076.1	37	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117821	0.77323	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075	T;T;T	0.70045	-0.45;-0.45;-0.13	4.89	4.89	0.63831	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.087601	0.85682	D	0.000000	D	0.83603	0.5290	M	0.93062	3.375	0.58432	D	0.999999	D	0.59357	0.985	P	0.60068	0.868	D	0.87946	0.2720	10	0.72032	D	0.01	.	14.4884	0.67634	0.0:0.0:0.0:1.0	.	229	P07195	LDHB_HUMAN	M	229	ENSP00000379386:K229M;ENSP00000229319:K229M;ENSP00000379385:K229M	ENSP00000229319:K229M	K	-	2	0	LDHB	21682581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.088000	0.64486	1.831000	0.53308	0.533000	0.62120	AAG		0.353	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		A	21791314	T	A	21791314	3	1	366	1	0	0	0	0	1	0	0	0	8703	1609	56	5	330	5	LDHB	12	21791314	Missense_Mutation	SNP	T	TCGA-BP-4790-01A-01D-1373-10		21791314	112060581	17	20563											
FREM2	341640	hgsc.bcm.edu;ucsc.edu	37	13	39265273	39265273	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr13:39265273T>G	ENST00000280481.7	+	1	4008	c.3792T>G	c.(3790-3792)atT>atG	p.I1264M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1264					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCAGCATTATTTATGAGCATG	0.428																																																0													201	197	198					13																	39265273		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3792T>G	13.37:g.39265273T>G	ENSP00000280481:p.Ile1264Met		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	8.632	0.893832	0.17613	.	.	ENSG00000150893	ENST00000280481	T	0.51071	0.72	6.01	1.03	0.20045	Cadherin (1);	0.226683	0.45361	D	0.000364	T	0.36468	0.0968	L	0.45698	1.435	0.41423	D	0.98781	P	0.43973	0.823	P	0.45232	0.474	T	0.11792	-1.0573	10	0.29301	T	0.29	.	2.3665	0.04320	0.1161:0.3539:0.1899:0.3401	.	1264	Q5SZK8	FREM2_HUMAN	M	1264	ENSP00000280481:I1264M	ENSP00000280481:I1264M	I	+	3	3	FREM2	38163273	0.075000	0.21258	1.000000	0.80357	0.843000	0.47879	-0.795000	0.04580	0.179000	0.19938	-0.290000	0.09829	ATT		0.428	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39265273	T	G	39265273	3	3	366	1	0	0	0	0	1	0	0	0	6047	1829	64	5	3794	5	FREM2	13	39265273	Missense_Mutation	SNP	T	TCGA-BP-4790-01A-01D-1373-10		39265273	75904605	18	20564											
CIRH1A	84916	hgsc.bcm.edu	37	16	69184578	69184578	+	Missense_Mutation	SNP	G	G	T	rs370401281		TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr16:69184578G>T	ENST00000314423.7	+	7	1054	c.877G>T	c.(877-879)Gtg>Ttg	p.V293L	CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000352319.4_Missense_Mutation_p.V293L|CIRH1A_ENST00000563094.1_Missense_Mutation_p.V293L			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	293					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CGTGCGCACTGTGGCCCACAG	0.562											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(69;1156 1278 4951 8715 52012)											0													117	98	104					16																	69184578		2198	4300	6498	SO:0001583	missense	84916			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.877G>T	16.37:g.69184578G>T	ENSP00000327179:p.Val293Leu	1112	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322818	0.23994	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.29142	1.58;2.43	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057647	0.64402	D	0.000002	T	0.19005	0.0456	N	0.03050	-0.425	0.52099	D	0.999942	B;B;B	0.31730	0.337;0.027;0.085	B;B;B	0.37989	0.262;0.044;0.034	T	0.19128	-1.0315	10	0.15499	T	0.54	.	19.7864	0.96440	0.0:0.0:1.0:0.0	.	293;293;293	Q969X6-2;Q969X6;Q969X6-3	.;CIR1A_HUMAN;.	L	293	ENSP00000327179:V293L;ENSP00000339164:V293L	ENSP00000327179:V293L	V	+	1	0	CIRH1A	67742079	1.000000	0.71417	0.966000	0.40874	0.815000	0.46073	6.721000	0.74728	2.777000	0.95525	0.508000	0.49915	GTG		0.562	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		T	69184578	G	T	69184578	3	4	366	1	0	0	0	0	1	0	0	0	3436	1377	48	4	899	4	CIRH1A	16	69184578	Missense_Mutation	SNP	G	TCGA-BP-4790-01A-01D-1373-10		69184578	21170175	19	20565											
CTRB2	440387	hgsc.bcm.edu	37	16	75241033	75241033	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr16:75241033A>G	ENST00000303037.8	-	1	50	c.7T>C	c.(7-9)Ttc>Ctc	p.F3L		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	3				F -> S (in Ref. 3; AAH73145). {ECO:0000305}.	cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|large_intestine(1)|lung(2)	4						AGCCAGAGGAAAGCCATGGTG	0.642																																																0													54	52	53					16																	75241033		2153	4252	6405	SO:0001583	missense	440387			M24400, AK131056	CCDS32489.1	16q22.3	2007-10-22			ENSG00000168928	ENSG00000168928			2522	protein-coding gene	gene with protein product						2917002, 8186414	Standard	NM_001025200		Approved		uc002fdr.3	Q6GPI1	OTTHUMG00000159271	ENST00000303037.8:c.7T>C	16.37:g.75241033A>G	ENSP00000303963:p.Phe3Leu		A8K707	Missense_Mutation	SNP	ENST00000303037.8	37	CCDS32489.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766958	0.31320	.	.	ENSG00000168928	ENST00000303037	D	0.87029	-2.2	4.57	0.921	0.19403	.	0.570367	0.16857	U	0.196685	T	0.69984	0.3172	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.17433	0.018	T	0.57057	-0.7876	10	0.34782	T	0.22	.	5.2646	0.15591	0.5554:0.2803:0.1643:0.0	.	3	Q6GPI1	CTRB2_HUMAN	L	3	ENSP00000303963:F3L	ENSP00000303963:F3L	F	-	1	0	CTRB2	73798534	0.020000	0.18652	0.000000	0.03702	0.030000	0.12068	2.220000	0.42908	0.018000	0.15052	0.402000	0.26972	TTC		0.642	CTRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354298.2	NM_001025200		G	75241033	A	G	75241033	3	3	366	1	0	0	0	0	1	0	0	0	4028	14	1	3	812	3	CTRB2	16	75241033	Missense_Mutation	SNP	A	TCGA-BP-4790-01A-01D-1373-10	6056455	75241033	15113720	20	20566											
SMURF2	64750	hgsc.bcm.edu;ucsc.edu	37	17	62542419	62542419	+	Silent	SNP	A	A	T	rs550472832		TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr17:62542419A>T	ENST00000262435.9	-	18	2296	c.2109T>A	c.(2107-2109)atT>atA	p.I703I		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	703	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGCAGGCATCAATCTGGTGTA	0.443																																																0													131	111	118					17																	62542419		2203	4300	6503	SO:0001819	synonymous_variant	64750			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.2109T>A	17.37:g.62542419A>T			Q52LL1|Q9H260	Silent	SNP	ENST00000262435.9	37	CCDS32707.1																																																																																				0.443	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		T	62542419	A	T	62542419	2	4	366	1	0	0	0	0	0	0	0	1	14826	126	5	5		5	SMURF2	17	62542419	Silent	SNP	A	TCGA-BP-4790-01A-01D-1373-10		62542419	18652791	21	20567											
KCNJ2	3759	hgsc.bcm.edu;ucsc.edu	37	17	68172170	68172170	+	Silent	SNP	C	C	G			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr17:68172170C>G	ENST00000243457.3	+	2	1373	c.990C>G	c.(988-990)ctC>ctG	p.L330L	KCNJ2_ENST00000535240.1_Silent_p.L330L	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	330				L -> F (in Ref. 4; AAC39555). {ECO:0000305}.	cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGCCTGTGCTCTTTGAAGAGA	0.493																																																0													64	67	66					17																	68172170		2203	4300	6503	SO:0001819	synonymous_variant	3759			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.990C>G	17.37:g.68172170C>G			O15110|P48049	Silent	SNP	ENST00000243457.3	37	CCDS11688.1																																																																																				0.493	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		G	68172170	C	G	68172170	2	3	366	1	0	0	0	0	0	0	0	1	8053	900	32	4		4	KCNJ2	17	68172170	Silent	SNP	C	TCGA-BP-4790-01A-01D-1373-10	5629751	68172170	13023040	22	20568											
PGS1	9489	hgsc.bcm.edu;ucsc.edu	37	17	76388642	76388642	+	Missense_Mutation	SNP	G	G	A	rs374120789		TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr17:76388642G>A	ENST00000262764.6	+	2	255	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	PGS1_ENST00000329897.7_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	77					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)	p.V77M(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCCAGAAGGCGTGCACCGGTT	0.537																																					Esophageal Squamous(45;182 1126 10685 43198)											1	Substitution - Missense(1)	lung(1)						G	MET/VAL	1,3873		0,1,1936	83	84	84		229	4.4	0.9	17		84	0,8264		0,0,4132	no	missense	PGS1	NM_024419.3	21	0,1,6068	AA,AG,GG		0.0,0.0258,0.0082	benign	77/557	76388642	1,12137	1937	4132	6069	SO:0001583	missense	9489				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.229G>A	17.37:g.76388642G>A	ENSP00000262764:p.Val77Met		B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554921	0.45487	2.58E-4	0.0	ENSG00000087157	ENST00000262764	T	0.22539	1.95	5.38	4.4	0.53042	.	0.357660	0.27531	N	0.018945	T	0.08492	0.0211	N	0.08118	0	0.80722	D	1	P	0.42296	0.775	B	0.33521	0.165	T	0.23476	-1.0187	10	0.33940	T	0.23	-26.4227	7.7324	0.28793	0.0738:0.0:0.6325:0.2938	.	77	Q32NB8	PGPS1_HUMAN	M	77	ENSP00000262764:V77M	ENSP00000262764:V77M	V	+	1	0	PGS1	73900237	0.990000	0.36364	0.912000	0.35992	0.849000	0.48306	2.996000	0.49449	1.260000	0.44134	0.591000	0.81541	GTG		0.537	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		A	76388642	G	A	76388642	3	1	366	1	0	0	0	0	1	0	0	0	11810	1145	40	1	235	1	PGS1	17	76388642	Missense_Mutation	SNP	G	TCGA-BP-4790-01A-01D-1373-10	8216472	76388642	4806568	23	20569											
SS18	6760	hgsc.bcm.edu	37	18	23637608	23637608	+	Silent	SNP	T	T	A			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr18:23637608T>A	ENST00000415083.2	-	4	385	c.330A>T	c.(328-330)gtA>gtT	p.V110V	SS18_ENST00000542743.1_Silent_p.V58V|SS18_ENST00000539849.1_Silent_p.V28V|SS18_ENST00000542420.2_Silent_p.V87V|SS18_ENST00000269137.7_Silent_p.V110V|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000545952.1_Silent_p.V58V	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	110	Transcriptional activation.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GACCCCCACCTACCATTCCAT	0.542			T	"SSX1,  SSX2"	synovial sarcoma																																		Dom	yes		18	18q11.2	6760	"synovial sarcoma translocation, chromosome 18"		M	0													99	99	99					18																	23637608		2203	4300	6503	SO:0001819	synonymous_variant	6760			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.330A>T	18.37:g.23637608T>A			B0YJ95|Q16404|Q4VAX1|Q9BXC6	Silent	SNP	ENST00000415083.2	37	CCDS32807.1																																																																																				0.542	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			A	23637608	T	A	23637608	2	1	366	1	0	0	0	0	0	0	0	1	15180	1509	53	5		5	SS18	18	23637608	Silent	SNP	T	TCGA-BP-4790-01A-01D-1373-10		23637608	54439640	24	20570											
CDH19	28513	hgsc.bcm.edu;ucsc.edu	37	18	64172432	64172432	+	Missense_Mutation	SNP	C	C	T	rs201955048	byFrequency	TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr18:64172432C>T	ENST00000262150.2	-	12	2228	c.1936G>A	c.(1936-1938)Ggt>Agt	p.G646S	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTTCTCCACCCCCTTCATCA	0.408													c|||	7	0.00139776	0.0	0.0	5008	,	,		14427	0.0		0.0	False		,,,				2504	0.0072															0													171	171	171					18																	64172432		2203	4300	6503	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1936G>A	18.37:g.64172432C>T	ENSP00000262150:p.Gly646Ser		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.196437	0.78902	.	.	ENSG00000071991	ENST00000262150	D	0.82619	-1.63	5.18	4.31	0.51392	Cadherin, cytoplasmic domain (1);	0.166538	0.52532	D	0.000077	D	0.92309	0.7560	H	0.94658	3.565	0.80722	D	1	D	0.54047	0.964	P	0.60236	0.871	D	0.94111	0.7371	10	0.87932	D	0	.	14.0203	0.64550	0.0:0.9267:0.0:0.0733	.	646	Q9H159	CAD19_HUMAN	S	646	ENSP00000262150:G646S	ENSP00000262150:G646S	G	-	1	0	CDH19	62323412	0.693000	0.27728	0.220000	0.23810	0.471000	0.32888	0.509000	0.22707	1.306000	0.44926	0.650000	0.86243	GGT		0.408	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		T	64172432	C	T	64172432	3	4	366	1	0	0	0	0	1	0	0	0	3106	623	22	2	386	2	CDH19	18	64172432	Missense_Mutation	SNP	C	TCGA-BP-4790-01A-01D-1373-10	40534824	64172432	13904816	25	20571											
MAP3K10	4294	hgsc.bcm.edu	37	19	40698258	40698258	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr19:40698258G>T	ENST00000253055.3	+	1	608	c.320G>T	c.(319-321)gGg>gTg	p.G107V	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> E (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.G107E(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ATCGGTGTGGGGGGCTTTGGC	0.697																																																1	Substitution - Missense(1)	skin(1)											32	36	34					19																	40698258		2203	4299	6502	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.320G>T	19.37:g.40698258G>T	ENSP00000253055:p.Gly107Val		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326993	0.81690	.	.	ENSG00000130758	ENST00000253055	D	0.99683	-6.39	4.3	4.3	0.51218	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96434	0.9321	10	0.87932	D	0	.	14.3128	0.66426	0.0:0.0:1.0:0.0	.	107	Q02779	M3K10_HUMAN	V	107	ENSP00000253055:G107V	ENSP00000253055:G107V	G	+	2	0	MAP3K10	45390098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.604000	0.98317	2.232000	0.73038	0.655000	0.94253	GGG		0.697	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		T	40698258	G	T	40698258	3	4	366	1	0	0	0	0	1	0	0	0	9246	1232	43	4	322	4	MAP3K10	19	40698258	Missense_Mutation	SNP	G	TCGA-BP-4790-01A-01D-1373-10		40698258	18430725	26	20572											
CNFN	84518	hgsc.bcm.edu	37	19	42893091	42893091	+	Silent	SNP	G	G	A	rs139046031	byFrequency	TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr19:42893091G>A	ENST00000222032.5	-	2	148	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CNFN_ENST00000597255.1_Silent_p.N33N	NM_032488.3	NP_115877.2	Q9BYD5	CNFN_HUMAN	cornifelin	33	Cys-rich.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				lung(1)|prostate(1)	2		Prostate(69;0.00899)				CAGGCATGTCGTTGCAGCAGT	0.612													G|||	34	0.00678914	0.0038	0.0159	5008	,	,		18574	0.003		0.0109	False		,,,				2504	0.0041															0								G		18,4388	26.2+/-53.5	0,18,2185	120	90	100		99	-2.9	1	19	dbSNP_134	100	116,8484	61.3+/-123.2	0,116,4184	no	coding-synonymous	CNFN	NM_032488.3		0,134,6369	AA,AG,GG		1.3488,0.4085,1.0303		33/113	42893091	134,12872	2203	4300	6503	SO:0001819	synonymous_variant	84518			AB049591	CCDS12606.1	19q13.31	2006-01-11				ENSG00000105427			30183	protein-coding gene	gene with protein product		611764					Standard	NM_032488		Approved	PLAC8L2	uc002otp.4	Q9BYD5		ENST00000222032.5:c.99C>T	19.37:g.42893091G>A			B2R569	Silent	SNP	ENST00000222032.5	37	CCDS12606.1																																																																																				0.612	CNFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463859.1	NM_032488		A	42893091	G	A	42893091	2	1	366	1	0	0	0	0	0	0	0	1	3597	1136	40	1		1	CNFN	19	42893091	Silent	SNP	G	TCGA-BP-4790-01A-01D-1373-10	2194833	42893091	16235892	27	20573											
DMD	1756	hgsc.bcm.edu;ucsc.edu	37	X	31947776	31947777	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chrX:31947776_31947777delTA	ENST00000357033.4	-	47	7054_7055	c.6848_6849delTA	c.(6847-6849)atafs	p.I2283fs	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Frame_Shift_Del_p.I2279fs|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2283					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.I2278T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCTGGGCTTATGGGAGCACT	0.426																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6848_6849delTA	X.37:g.31947776_31947777delTA	ENSP00000354923:p.Ile2283fs		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	ENST00000357033.4	37	CCDS14233.1																																																																																				0.426	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		-	31947777	TA	-	31947776	7	5	366	1	0	1	0	1	0	0	0	0	4582	1744	61	0	4488	0	DMD	23	31947776	Frame_Shift_Del	DEL	TA	TCGA-BP-4790-01A-01D-1373-10		31947776	123322784	28	20574											
ZNF275	10838	hgsc.bcm.edu	37	X	152612540	152612540	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chrX:152612540G>T	ENST00000421401.3	+	4	574	c.397G>T	c.(397-399)Gac>Tac	p.D133Y	ZNF275_ENST00000370251.3_Missense_Mutation_p.D133Y|ZNF275_ENST00000440091.1_Missense_Mutation_p.D163Y|ZNF275_ENST00000370249.2_Missense_Mutation_p.D80Y			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAATGTGGCGACTGCGGGAA	0.577																																																0													48	51	50					X																	152612540		2109	4200	6309	SO:0001583	missense	10838			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"Zinc fingers, C2H2-type", "-"	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.397G>T	X.37:g.152612540G>T	ENSP00000398977:p.Asp133Tyr		A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37		.	.	.	.	.	.	.	.	.	.	G	10.93	1.489723	0.26686	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.45126	D	0.000387	T	0.29620	0.0739	L	0.33753	1.03	0.09310	N	1	D;D	0.67145	0.985;0.996	P;D	0.66847	0.905;0.947	T	0.04509	-1.0946	10	0.87932	D	0	-24.347	14.4763	0.67548	0.0:0.0:1.0:0.0	.	133;133	Q9NSD4;A6NFS0	ZN275_HUMAN;.	Y	133;133;163;80	ENSP00000359271:D133Y;ENSP00000398977:D133Y;ENSP00000411097:D163Y;ENSP00000359269:D80Y	ENSP00000359269:D80Y	D	+	1	0	ZNF275	152265734	0.007000	0.16637	0.041000	0.18516	0.234000	0.25298	1.369000	0.34227	2.386000	0.81285	0.513000	0.50165	GAC		0.577	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		T	152612540	G	T	152612540	3	4	366	1	0	0	0	0	1	0	0	0	17815	1058	37	4	407	4	ZNF275	23	152612540	Missense_Mutation	SNP	G	TCGA-BP-4790-01A-01D-1373-10	120664764	152612540	2658020	29	20575											
CLSTN1	22883	broad.mit.edu	37	1	9804590	9804590	+	Missense_Mutation	SNP	T	T	C	rs375488055		TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:9804590T>C	ENST00000377298.4	-	8	1889	c.1097A>G	c.(1096-1098)aAc>aGc	p.N366S	CLSTN1_ENST00000377288.3_Missense_Mutation_p.N366S|CLSTN1_ENST00000361311.4_Missense_Mutation_p.N356S	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	366					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGGTGCCGTTGAACTCAAA	0.632																																																0								T	SER/ASN,SER/ASN	0,4406		0,0,2203	106	75	85		1097,1067	5.8	1	1		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLSTN1	NM_001009566.1,NM_014944.3	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	366/982,356/972	9804590	1,13005	2203	4300	6503	SO:0001583	missense	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1097A>G	1.37:g.9804590T>C	ENSP00000366513:p.Asn366Ser		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.981460	0.93044	0.0	1.16E-4	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.81	5.81	0.92471	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.83013	0.5162	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.994;0.996	D	0.84694	0.0724	10	0.72032	D	0.01	-40.8357	16.1668	0.81768	0.0:0.0:0.0:1.0	.	366;356;366	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	S	366;356;186;366;366	ENSP00000366513:N366S;ENSP00000354997:N356S;ENSP00000401934:N186S;ENSP00000366502:N366S	ENSP00000354997:N356S	N	-	2	0	CLSTN1	9727177	1.000000	0.71417	0.958000	0.39756	0.908000	0.53690	7.977000	0.88081	2.210000	0.71456	0.533000	0.62120	AAC		0.632	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			C	9804590	T	C	9804590	3	2	367	1	0	0	0	0	1	0	0	0	3563	1725	60	3	1896	3	CLSTN1	1	9804590	Missense_Mutation	SNP	T	TCGA-BP-4795-01A-02D-1421-08		9804590	239446031	1	20576											
CYP4B1	1580	broad.mit.edu	37	1	47278213	47278213	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:47278213G>A	ENST00000271153.4	+	4	449	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R138H|CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R123H			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	138					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TTGCAGCACCGCAAGCTGCTC	0.602																																																0													133	102	113					1																	47278213		2203	4300	6503	SO:0001583	missense	1580			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.413G>A	1.37:g.47278213G>A	ENSP00000271153:p.Arg138His		Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746424	0.89663	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919	D;D;D	0.92647	-3.08;-3.08;-2.01	5.91	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	H	0.96748	3.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.997	D	0.98979	1.0804	10	0.87932	D	0	.	16.6108	0.84882	0.0:0.0:0.8687:0.1312	.	123;138;138	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	H	138;138;123	ENSP00000360991:R138H;ENSP00000271153:R138H;ENSP00000360987:R123H	ENSP00000271153:R138H	R	+	2	0	CYP4B1	47050800	1.000000	0.71417	0.998000	0.56505	0.764000	0.43329	7.592000	0.82676	1.503000	0.48686	-0.230000	0.12252	CGC		0.602	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		A	47278213	G	A	47278213	3	1	367	1	0	0	0	0	1	0	0	0	4187	1087	38	1	427	1	CYP4B1	1	47278213	Missense_Mutation	SNP	G	TCGA-BP-4795-01A-02D-1421-08	37473623	47278213	201972408	2	20577											
C1orf183	55924	broad.mit.edu	37	1	112269769	112269769	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:112269769C>T	ENST00000357260.5	-	2	896	c.715G>A	c.(715-717)Gag>Aag	p.E239K	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Missense_Mutation_p.E224K	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	239										cervix(1)|endometrium(1)	2						GTTCGGGACTCAGGGACCATG	0.607																																																0													59	62	61					1																	112269769		2203	4300	6503	SO:0001583	missense	55924			AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 183"	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.715G>A	1.37:g.112269769C>T	ENSP00000349805:p.Glu239Lys		B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	ENST00000357260.5	37	CCDS841.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683575	0.47991	.	.	ENSG00000197852	ENST00000357260;ENST00000444059	.	.	.	4.96	4.01	0.46588	.	0.284910	0.35708	N	0.003031	T	0.21881	0.0527	N	0.19112	0.55	0.25783	N	0.984709	D;P	0.54964	0.969;0.939	P;P	0.55824	0.785;0.662	T	0.05835	-1.0861	9	0.72032	D	0.01	-24.1675	11.234	0.48929	0.3326:0.6674:0.0:0.0	.	224;239	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	K	239;224	.	ENSP00000349805:E239K	E	-	1	0	C1orf183	112071292	0.873000	0.30073	0.026000	0.17262	0.064000	0.16182	2.146000	0.42216	1.018000	0.39521	0.484000	0.47621	GAG		0.607	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		T	112269769	C	T	112269769	3	4	367	1	0	0	0	0	1	0	0	0	2021	835	29	2	182	2	C1orf183	1	112269769	Missense_Mutation	SNP	C	TCGA-BP-4795-01A-02D-1421-08	64991556	112269769	136980852	3	20578											
ADAR	103	broad.mit.edu	37	1	154561068	154561068	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:154561068C>A	ENST00000368474.4	-	10	3043	c.2844G>T	c.(2842-2844)aaG>aaT	p.K948N	ADAR_ENST00000368471.3_Missense_Mutation_p.K653N|ADAR_ENST00000292205.5_Missense_Mutation_p.K991N	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	948	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TTATTTGGAGCTTTTCTCCTC	0.433																																																0													132	128	130					1																	154561068		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2844G>T	1.37:g.154561068C>A	ENSP00000357459:p.Lys948Asn		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911771	0.72983	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	5.19	4.28	0.50868	Adenosine deaminase/editase (3);	0.467914	0.21380	N	0.075497	D	0.93739	0.7999	M	0.64676	1.99	0.45129	D	0.998149	P;D;D	0.58268	0.946;0.974;0.982	P;P;P	0.57057	0.675;0.742;0.812	D	0.92627	0.6113	10	0.39692	T	0.17	-20.1679	11.7042	0.51587	0.0:0.8537:0.0:0.1463	.	903;922;948	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	N	991;948;653;917	ENSP00000292205:K991N;ENSP00000357459:K948N;ENSP00000357456:K653N;ENSP00000431794:K917N	ENSP00000292205:K991N	K	-	3	2	ADAR	152827692	0.955000	0.32602	1.000000	0.80357	0.993000	0.82548	0.250000	0.18235	1.420000	0.47138	0.557000	0.71058	AAG		0.433	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		A	154561068	C	A	154561068	3	1	367	1	0	0	0	0	1	0	0	0	281	796	28	4	860	4	ADAR	1	154561068	Missense_Mutation	SNP	C	TCGA-BP-4795-01A-02D-1421-08	42291299	154561068	94689553	4	20579											
KCNN3	3782	broad.mit.edu	37	1	154842012	154842012	+	Silent	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:154842012G>A	ENST00000271915.4	-	1	744	c.429C>T	c.(427-429)tcC>tcT	p.S143S	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	148					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TTGTAGCTGTGGAACTTGGAG	0.647																																																0													44	41	42					1																	154842012		2203	4300	6503	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.429C>T	1.37:g.154842012G>A			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																				0.647	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		A	154842012	G	A	154842012	2	1	367	1	0	0	0	0	0	0	0	1	8082	1335	47	2		2	KCNN3	1	154842012	Silent	SNP	G	TCGA-BP-4795-01A-02D-1421-08	280944	154842012	94408609	5	20580											
OPTC	26254	broad.mit.edu	37	1	203468977	203468977	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:203468977A>G	ENST00000367222.2	+	5	846	c.730A>G	c.(730-732)Agg>Ggg	p.R244G		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	244					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCAGCCTTCAGGGTGAGTCA	0.592																																																0													81	84	83					1																	203468977		2203	4300	6503	SO:0001583	missense	26254			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"oculoglycan"	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.730A>G	1.37:g.203468977A>G	ENSP00000356191:p.Arg244Gly		Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	a	13.13	2.145522	0.37825	.	.	ENSG00000188770	ENST00000367222	T	0.02121	4.44	4.57	-9.15	0.00698	.	1.446220	0.04361	N	0.357517	T	0.01124	0.0037	N	0.05510	-0.035	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.47774	-0.9091	10	0.56958	D	0.05	-6.0E-4	1.7781	0.03025	0.1887:0.2958:0.3206:0.1949	.	244	Q9UBM4	OPT_HUMAN	G	244	ENSP00000356191:R244G	ENSP00000356191:R244G	R	+	1	2	OPTC	201735600	0.386000	0.25180	0.001000	0.08648	0.095000	0.18619	0.484000	0.22308	-2.048000	0.00907	-0.450000	0.05554	AGG		0.592	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		G	203468977	A	G	203468977	3	3	367	1	0	0	0	0	1	0	0	0	10890	179	7	3	744	3	OPTC	1	203468977	Missense_Mutation	SNP	A	TCGA-BP-4795-01A-02D-1421-08	48626965	203468977	45781644	6	20581											
CPSF3	51692	broad.mit.edu	37	2	9572771	9572771	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:9572771A>T	ENST00000238112.3	+	5	679	c.473A>T	c.(472-474)cAc>cTc	p.H158L	CPSF3_ENST00000460593.1_Missense_Mutation_p.H121L	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	158					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CATGCAGGTCACGTCCTAGGA	0.463																																					Colon(194;1259 2048 3845 5218 19985)											0													90	83	85					2																	9572771		2203	4300	6503	SO:0001583	missense	51692			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.473A>T	2.37:g.9572771A>T	ENSP00000238112:p.His158Leu		O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.835217	0.91117	.	.	ENSG00000119203	ENST00000238112;ENST00000475482;ENST00000427001;ENST00000460593	T;T;T	0.66460	-0.21;-0.21;-0.21	5.61	5.61	0.85477	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.89746	0.6804	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94018	0.7290	10	0.87932	D	0	-30.2345	16.1025	0.81194	1.0:0.0:0.0:0.0	.	158;158	E7ER23;Q9UKF6	.;CPSF3_HUMAN	L	158;121;158;121	ENSP00000238112:H158L;ENSP00000419744:H121L;ENSP00000418957:H121L	ENSP00000238112:H158L	H	+	2	0	CPSF3	9490222	1.000000	0.71417	0.992000	0.48379	0.775000	0.43874	9.255000	0.95524	2.254000	0.74563	0.533000	0.62120	CAC		0.463	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		T	9572771	A	T	9572771	3	4	367	1	0	0	0	0	1	0	0	0	3828	159	6	5	491	5	CPSF3	2	9572771	Missense_Mutation	SNP	A	TCGA-BP-4795-01A-02D-1421-08		9572771	233626602	7	20582											
GTF2A1L	11036	broad.mit.edu	37	2	48897082	48897082	+	Silent	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:48897082T>C	ENST00000403751.3	+	7	1237	c.1200T>C	c.(1198-1200)agT>agC	p.S400S	STON1-GTF2A1L_ENST00000405008.1_Silent_p.S1104S|GTF2A1L_ENST00000430487.2_Silent_p.S366S|STON1-GTF2A1L_ENST00000394754.1_Silent_p.S1104S|STON1-GTF2A1L_ENST00000309827.2_Silent_p.S1104S|STON1-GTF2A1L_ENST00000402114.2_Silent_p.S1104S|LHCGR_ENST00000420913.3_5'Flank|STON1-GTF2A1L_ENST00000394751.3_Silent_p.S1057S	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	400					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCACAAACAGTAGTGATAATG	0.363																																																0													80	84	82					2																	48897082		2203	4300	6503	SO:0001819	synonymous_variant	286749			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"TFIIA alpha/beta like factor"	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1200T>C	2.37:g.48897082T>C			B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	CCDS46281.1																																																																																				0.363	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		C	48897082	T	C	48897082	2	2	367	1	0	0	0	0	0	0	0	1	6855	1635	57	3		3	GTF2A1L	2	48897082	Silent	SNP	T	TCGA-BP-4795-01A-02D-1421-08	39324311	48897082	194302291	8	20583											
TEKT4	150483	broad.mit.edu	37	2	95539321	95539321	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:95539321A>G	ENST00000295201.4	+	2	692	c.555A>G	c.(553-555)gcA>gcG	p.A185A	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	185					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TCATGCAAGCAGTGAGCCAGA	0.597																																																0													76	65	69					2																	95539321		2203	4300	6503	SO:0001819	synonymous_variant	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.555A>G	2.37:g.95539321A>G				Silent	SNP	ENST00000295201.4	37	CCDS2005.1																																																																																				0.597	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		G	95539321	A	G	95539321	2	3	367	1	0	0	0	0	0	0	0	1	15760	175	7	3		3	TEKT4	2	95539321	Silent	SNP	A	TCGA-BP-4795-01A-02D-1421-08	46642239	95539321	147660052	9	20584											
CCDC74A	90557	broad.mit.edu	37	2	132288265	132288265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:132288265G>T	ENST00000295171.6	+	3	547	c.409G>T	c.(409-411)Gag>Tag	p.E137*	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Nonsense_Mutation_p.E239*	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	137										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGCTGAAGGAGGGCTCCTC	0.662																																																0													54	56	55					2																	132288265		2201	4298	6499	SO:0001587	stop_gained	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.409G>T	2.37:g.132288265G>T	ENSP00000295171:p.Glu137*		Q6P4I5	Nonsense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	14.87	2.663493	0.47572	.	.	ENSG00000163040	ENST00000295171;ENST00000467992	.	.	.	1.67	-2.01	0.07410	.	5.006060	0.01422	U	0.014418	.	.	.	.	.	.	0.58432	A	0.999991	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.0555	0.14531	0.4596:0.0:0.5404:0.0	.	.	.	.	X	137;239	.	ENSP00000295171:E137X	E	+	1	0	CCDC74A	132004735	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	0.237000	0.17985	-0.539000	0.06273	0.194000	0.17425	GAG		0.662	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		T	132288265	G	T	132288265	4	4	367	1	0	0	0	0	0	1	0	0	2849	1175	41	4	419	4	CCDC74A	2	132288265	Nonsense_Mutation	SNP	G	TCGA-BP-4795-01A-02D-1421-08	36748944	132288265	110911108	10	20585											
KCNH7	90134	broad.mit.edu	37	2	163256910	163256910	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:163256910A>G	ENST00000332142.5	-	10	2295	c.2196T>C	c.(2194-2196)tgT>tgC	p.C732C		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	732					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGAGATGTAGACAAATGTCTG	0.438																																					GBM(196;1492 2208 17507 24132 45496)											0													120	122	121					2																	163256910		2203	4300	6503	SO:0001819	synonymous_variant	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2196T>C	2.37:g.163256910A>G			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	CCDS2219.1																																																																																				0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		G	163256910	A	G	163256910	2	3	367	1	0	0	0	0	0	0	0	1	8039	273	10	3		3	KCNH7	2	163256910	Silent	SNP	A	TCGA-BP-4795-01A-02D-1421-08	30968645	163256910	79942463	11	20586											
SRGAP3	9901	broad.mit.edu	37	3	9106174	9106174	+	Missense_Mutation	SNP	T	T	C	rs373136362		TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr3:9106174T>C	ENST00000383836.3	-	5	1005	c.578A>G	c.(577-579)aAt>aGt	p.N193S	SRGAP3_ENST00000360413.3_Missense_Mutation_p.N193S|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	193	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCTGACTTATTGAACTGCTT	0.547			T	RAF1	pilocytic astrocytoma																																		Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0								T	SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	172	136	148		578,578	2.5	1	3		148	0,8600		0,0,4300	no	missense,missense	SRGAP3	NM_001033117.1,NM_014850.2	46,46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	193/1076,193/1100	9106174	1,13005	2203	4300	6503	SO:0001583	missense	9901			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.578A>G	3.37:g.9106174T>C	ENSP00000373347:p.Asn193Ser		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139692	0.37728	2.27E-4	0.0	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.50001	0.76;0.76	4.94	2.55	0.30701	.	0.095441	0.64402	N	0.000001	T	0.14743	0.0356	N	0.00583	-1.355	0.38318	D	0.943457	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.0	T	0.04216	-1.0968	10	0.31617	T	0.26	.	7.5357	0.27708	0.0:0.2434:0.0:0.7566	.	193;62;193;193	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	S	193;193;73	ENSP00000373347:N193S;ENSP00000353587:N193S	ENSP00000353587:N193S	N	-	2	0	SRGAP3	9081174	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	1.793000	0.38764	0.336000	0.23639	0.338000	0.21704	AAT		0.547	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			C	9106174	T	C	9106174	3	2	367	1	0	0	0	0	1	0	0	0	15152	1493	52	3	2828	3	SRGAP3	3	9106174	Missense_Mutation	SNP	T	TCGA-BP-4795-01A-02D-1421-08		9106174	188916256	12	20587											
SLC4A7	9497	broad.mit.edu	37	3	27446453	27446453	+	Splice_Site	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr3:27446453C>T	ENST00000295736.5	-	14	1986	c.1916G>A	c.(1915-1917)aGt>aAt	p.S639N	SLC4A7_ENST00000435667.2_Splice_Site_p.S524N|SLC4A7_ENST00000455077.1_Splice_Site_p.S520N|SLC4A7_ENST00000428386.1_Splice_Site_p.S515N|SLC4A7_ENST00000437179.1_Splice_Site_p.S520N|SLC4A7_ENST00000425128.2_Splice_Site_p.V573M|SLC4A7_ENST00000388777.4_Splice_Site_p.S189N|SLC4A7_ENST00000440156.1_Splice_Site_p.S635N|SLC4A7_ENST00000445684.1_Splice_Site_p.S635N|SLC4A7_ENST00000454389.1_Splice_Site_p.S648N|SLC4A7_ENST00000446700.1_Splice_Site_p.S631N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	639					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CTCTATTGCACTCTGTTTAAG	0.348																																																0													70	70	70					3																	27446453		2203	4300	6503	SO:0001630	splice_region_variant	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1915-1G>A	3.37:g.27446453C>T			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Splice_Site	SNP	ENST00000295736.5	37	CCDS33721.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.15|19.15	3.772135|3.772135	0.69992|0.69992	.|.	.|.	ENSG00000033867|ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179|ENST00000425128	T;T;T;T;T;T;T;T;T;T;T;T|T	0.79749|0.59083	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3|0.29	5.63|5.63	5.63|5.63	0.86233|0.86233	Bicarbonate transporter, C-terminal (1);|.	0.098509|.	0.85682|.	D|.	0.000000|.	T|T	0.75369|0.75369	0.3840|0.3840	M|M	0.75447|0.75447	2.3|2.3	0.39208|0.39208	D|D	0.963273|0.963273	D;D;D;D;D;D;D;D;D|.	0.76494|.	0.999;0.999;0.993;0.994;0.999;0.97;0.999;0.999;0.999|.	D;D;D;D;D;D;D;D;D|.	0.81914|.	0.992;0.995;0.98;0.98;0.992;0.913;0.983;0.992;0.992|.	T|T	0.78942|0.78942	-0.2005|-0.2005	10|7	0.87932|0.87932	D|D	0|0	.|.	19.6798|19.6798	0.95958|0.95958	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	635;520;631;635;648;189;515;639;520|.	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53|.	.;.;.;.;.;.;.;S4A7_HUMAN;.|.	N|M	190;639;515;648;635;520;631;520;635;524;189;535|573	ENSP00000411031:S190N;ENSP00000295736:S639N;ENSP00000416368:S515N;ENSP00000390394:S648N;ENSP00000414797:S635N;ENSP00000394252:S520N;ENSP00000406605:S631N;ENSP00000407382:S520N;ENSP00000406804:S635N;ENSP00000395336:S524N;ENSP00000373429:S189N;ENSP00000388703:S535N|ENSP00000401949:V573M	ENSP00000295736:S639N|ENSP00000401949:V573M	S|V	-|-	2|1	0|0	SLC4A7|SLC4A7	27421457|27421457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.818000|7.818000	0.86416|0.86416	2.642000|2.642000	0.89623|0.89623	0.467000|0.467000	0.42956|0.42956	AGT|GTG		0.348	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	Missense_Mutation	T	27446453	C	T	27446453	5	4	367	1	0	0	0	0	0	0	1	0	14664	579	20	2	1776	2	SLC4A7	3	27446453	Splice_Site	SNP	C	TCGA-BP-4795-01A-02D-1421-08	18340279	27446453	170575977	13	20588											
MBOAT1	154141	broad.mit.edu	37	6	20212418	20212418	+	Silent	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr6:20212418G>T	ENST00000324607.7	-	1	212	c.48C>A	c.(46-48)ggC>ggA	p.G16G	RP11-239H6.2_ENST00000449143.2_RNA|MBOAT1_ENST00000541730.1_5'UTR|MBOAT1_ENST00000536798.1_Silent_p.G16G	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	16					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			GGTAGGTGGAGCCCGTGGTGC	0.697																																																0													64	60	61					6																	20212418		2203	4299	6502	SO:0001819	synonymous_variant	154141			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.48C>A	6.37:g.20212418G>T			A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Silent	SNP	ENST00000324607.7	37	CCDS34346.1																																																																																				0.697	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			T	20212418	G	T	20212418	2	4	367	1	0	0	0	0	0	0	0	1	9358	958	34	4		4	MBOAT1	6	20212418	Silent	SNP	G	TCGA-BP-4795-01A-02D-1421-08		20212418	150902649	14	20589											
AKAP12	9590	broad.mit.edu	37	6	151672019	151672019	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr6:151672019A>G	ENST00000253332.1	+	3	2682	c.2493A>G	c.(2491-2493)gcA>gcG	p.A831A	AKAP12_ENST00000359755.5_Silent_p.A726A|AKAP12_ENST00000402676.2_Silent_p.A831A|AKAP12_ENST00000354675.6_Silent_p.A733A			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	831					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTGAAGACGCAGGGCCAACAG	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)											0													87	99	95					6																	151672019		2203	4300	6503	SO:0001819	synonymous_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2493A>G	6.37:g.151672019A>G			O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			G	151672019	A	G	151672019	2	3	367	1	0	0	0	0	0	0	0	1	448	175	7	3		3	AKAP12	6	151672019	Silent	SNP	A	TCGA-BP-4795-01A-02D-1421-08	131459601	151672019	19443048	15	20590											
CREB5	9586	broad.mit.edu	37	7	28848894	28848894	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:28848894G>A	ENST00000357727.2	+	9	1507	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	CREB5_ENST00000409603.1_Missense_Mutation_p.D340N|CREB5_ENST00000396299.2_Missense_Mutation_p.D340N|CREB5_ENST00000396298.2_Missense_Mutation_p.D234N|CREB5_ENST00000396300.2_Missense_Mutation_p.D366N	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	373					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGTAGACGAGGATCCGGACGA	0.607																																																0													58	61	60					7																	28848894		2203	4300	6503	SO:0001583	missense	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1117G>A	7.37:g.28848894G>A	ENSP00000350359:p.Asp373Asn		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514386	0.96402	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.70282	-0.46;-0.47;-0.46;-0.46;-0.46	5.99	5.99	0.97316	Basic-leucine zipper (bZIP) transcription factor (1);	0.000000	0.85682	D	0.000000	D	0.86535	0.5956	M	0.83483	2.645	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	D	0.87043	0.2142	10	0.87932	D	0	-15.015	20.4777	0.99188	0.0:0.0:1.0:0.0	.	234;373	B4DU13;Q02930	.;CREB5_HUMAN	N	340;373;366;340;199;234	ENSP00000379593:D340N;ENSP00000350359:D373N;ENSP00000379594:D366N;ENSP00000387197:D340N;ENSP00000379592:D234N	ENSP00000350359:D373N	D	+	1	0	CREB5	28815419	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	GAT		0.607	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		A	28848894	G	A	28848894	3	1	367	1	0	0	0	0	1	0	0	0	3862	1174	41	2	1202	2	CREB5	7	28848894	Missense_Mutation	SNP	G	TCGA-BP-4795-01A-02D-1421-08		28848894	130289769	16	20591											
CCDC129	223075	broad.mit.edu	37	7	31617737	31617737	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:31617737T>C	ENST00000407970.3	+	8	897	c.859T>C	c.(859-861)Ttt>Ctt	p.F287L	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.F195L|CCDC129_ENST00000451887.2_Missense_Mutation_p.F313L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	287										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTTGTTCCCTTTACAAAACC	0.448																																																0													55	57	57					7																	31617737		2200	4300	6500	SO:0001583	missense	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.859T>C	7.37:g.31617737T>C	ENSP00000384416:p.Phe287Leu		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	T	5.207	0.223629	0.09863	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.16196	2.62;2.62;2.36	5.08	-0.168	0.13343	.	.	.	.	.	T	0.09949	0.0244	L	0.29908	0.895	0.09310	N	1	B;B;B	0.18741	0.03;0.03;0.03	B;B;B	0.15870	0.014;0.014;0.014	T	0.36648	-0.9739	8	.	.	.	-0.0012	4.4756	0.11733	0.0:0.2888:0.2319:0.4793	.	313;297;287	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	L	287;313;297;195	ENSP00000384416:F287L;ENSP00000395835:F313L;ENSP00000387214:F195L	.	F	+	1	0	CCDC129	31584262	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.239000	0.08965	0.156000	0.19299	-0.290000	0.09829	TTT		0.448	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		C	31617737	T	C	31617737	3	2	367	1	0	0	0	0	1	0	0	0	2766	1609	56	3	885	3	CCDC129	7	31617737	Missense_Mutation	SNP	T	TCGA-BP-4795-01A-02D-1421-08	2768843	31617737	127520926	17	20592											
GRM8	2918	broad.mit.edu	37	7	126544081	126544081	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:126544081T>A	ENST00000339582.2	-	5	1771	c.963A>T	c.(961-963)caA>caT	p.Q321H	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.Q321H|GRM8_ENST00000444921.2_Missense_Mutation_p.Q321H|GRM8_ENST00000358373.3_Missense_Mutation_p.Q321H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	321					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CAATCTCCTCTTGCTGATAGA	0.423										HNSCC(24;0.065)																																						0													70	75	74					7																	126544081		2203	4296	6499	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.963A>T	7.37:g.126544081T>A	ENSP00000344173:p.Gln321His		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	8.441	0.850788	0.17034	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.03	1.72	0.24424	Extracellular ligand-binding receptor (1);	0.065700	0.64402	D	0.000008	T	0.76807	0.4039	L	0.29908	0.895	0.48901	D	0.999724	B;D;B	0.60160	0.022;0.987;0.131	B;P;B	0.55303	0.028;0.773;0.145	T	0.69877	-0.5026	10	0.13853	T	0.58	.	6.8108	0.23802	0.0:0.6348:0.1501:0.2151	.	321;321;321	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	H	321	ENSP00000344173:Q321H;ENSP00000409790:Q321H;ENSP00000351142:Q321H;ENSP00000385731:Q321H	ENSP00000344173:Q321H	Q	-	3	2	GRM8	126331317	0.900000	0.30661	1.000000	0.80357	0.991000	0.79684	-0.007000	0.12810	0.519000	0.28406	-0.450000	0.05554	CAA		0.423	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			A	126544081	T	A	126544081	3	1	367	1	0	0	0	0	1	0	0	0	6805	1606	56	5	1841	5	GRM8	7	126544081	Missense_Mutation	SNP	T	TCGA-BP-4795-01A-02D-1421-08	94926344	126544081	32594582	18	20593											
SLC13A4	26266	broad.mit.edu	37	7	135390994	135390994	+	Silent	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:135390994G>A	ENST00000354042.4	-	4	1109	c.420C>T	c.(418-420)aaC>aaT	p.N140N	RP11-644N4.1_ENST00000609370.1_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	140					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TGGTGGAGGTGTTGGACAGCC	0.627																																																0													127	98	108					7																	135390994		2203	4300	6503	SO:0001819	synonymous_variant	26266			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.420C>T	7.37:g.135390994G>A			A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	CCDS5840.1																																																																																				0.627	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		A	135390994	G	A	135390994	2	1	367	1	0	0	0	0	0	0	0	1	14400	1368	48	2		2	SLC13A4	7	135390994	Silent	SNP	G	TCGA-BP-4795-01A-02D-1421-08	8846913	135390994	23747669	19	20594											
MELK	9833	broad.mit.edu	37	9	36607602	36607602	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr9:36607602T>C	ENST00000298048.2	+	8	782	c.598T>C	c.(598-600)Tat>Cat	p.Y200H	MELK_ENST00000545008.1_Missense_Mutation_p.Y129H|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000536860.1_Missense_Mutation_p.Y152H|MELK_ENST00000538311.1_Missense_Mutation_p.Y6H|MELK_ENST00000536329.1_Missense_Mutation_p.Y129H|MELK_ENST00000541717.1_Missense_Mutation_p.Y200H|MELK_ENST00000536987.1_Missense_Mutation_p.Y69H|MELK_ENST00000543751.1_Missense_Mutation_p.Y168H	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			CATACTGTTATATGTTCTTAT	0.328																																					Ovarian(82;980 1317 7225 14391 18624)											0													224	219	220					9																	36607602		2203	4300	6503	SO:0001583	missense	9833			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.598T>C	9.37:g.36607602T>C	ENSP00000298048:p.Tyr200His		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392639	0.83011	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.30448	1.53;1.8;1.53;1.53;1.53;1.53;1.53;1.53	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052006	0.85682	D	0.000000	T	0.57257	0.2041	M	0.74546	2.27	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;0.956;0.998;0.997;1.0;0.999;0.998	T	0.61367	-0.7077	10	0.87932	D	0	-14.052	15.8775	0.79178	0.0:0.0:0.0:1.0	.	120;129;152;200;129;168;200	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	H	200;6;69;129;152;129;200;168	ENSP00000298048:Y200H;ENSP00000438226:Y6H;ENSP00000439184:Y69H;ENSP00000445452:Y129H;ENSP00000439792:Y152H;ENSP00000443550:Y129H;ENSP00000437804:Y200H;ENSP00000441596:Y168H	ENSP00000298048:Y200H	Y	+	1	0	MELK	36597602	1.000000	0.71417	0.997000	0.53966	0.872000	0.50106	6.575000	0.74018	2.228000	0.72767	0.482000	0.46254	TAT		0.328	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		C	36607602	T	C	36607602	3	2	367	1	0	0	0	0	1	0	0	0	9472	1406	49	3	624	3	MELK	9	36607602	Missense_Mutation	SNP	T	TCGA-BP-4795-01A-02D-1421-08		36607602	104605829	20	20595											
PDGFD	80310	broad.mit.edu	37	11	104034545	104034545	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr11:104034545G>T	ENST00000393158.2	-	1	290	c.111C>A	c.(109-111)aaC>aaA	p.N37K	PDGFD_ENST00000302251.5_Missense_Mutation_p.N37K			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	37					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CTCGCCTGAGGTTGGCGTTGC	0.403											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													65	65	65					11																	104034545		2202	4299	6501	SO:0001583	missense	80310			AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.111C>A	11.37:g.104034545G>T	ENSP00000376865:p.Asn37Lys	1378	A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730254	0.48939	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.25085	1.83;1.82	4.74	2.8	0.32819	.	0.175668	0.38111	N	0.001813	T	0.18341	0.0440	L	0.29908	0.895	0.35565	D	0.805013	B;B	0.25904	0.084;0.137	B;B	0.29942	0.051;0.109	T	0.13045	-1.0524	10	0.62326	D	0.03	-17.741	7.3684	0.26787	0.2055:0.0:0.7945:0.0	.	37;37	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	K	37	ENSP00000376865:N37K;ENSP00000302193:N37K	ENSP00000302193:N37K	N	-	3	2	PDGFD	103539755	0.999000	0.42202	1.000000	0.80357	0.527000	0.34593	0.248000	0.18198	0.542000	0.28846	0.650000	0.86243	AAC		0.403	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		T	104034545	G	T	104034545	3	4	367	1	0	0	0	0	1	0	0	0	11662	1252	44	4	1029	4	PDGFD	11	104034545	Missense_Mutation	SNP	G	TCGA-BP-4795-01A-02D-1421-08		104034545	30971971	21	20596											
GPRC5D	55507	broad.mit.edu	37	12	13103070	13103070	+	Silent	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr12:13103070C>T	ENST00000228887.1	-	1	248	c.249G>A	c.(247-249)gaG>gaA	p.E83E	GPRC5D_ENST00000396333.3_Silent_p.E83E|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GTTGATTGAGCTCGATGATGA	0.527																																																0													83	77	79					12																	13103070		2203	4300	6503	SO:0001819	synonymous_variant	55507			AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"GPCR / Class C : Orphans"	13310	protein-coding gene	gene with protein product		607437	"G protein-coupled receptor, family C, group 5, member D"				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.249G>A	12.37:g.13103070C>T			Q3KNV3|Q7Z5J9|Q8TDS6	Silent	SNP	ENST00000228887.1	37	CCDS8658.1																																																																																				0.527	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			T	13103070	C	T	13103070	2	4	367	1	0	0	0	0	0	0	0	1	6729	796	28	2		2	GPRC5D	12	13103070	Silent	SNP	C	TCGA-BP-4795-01A-02D-1421-08		13103070	120748825	22	20597											
SPIC	121599	broad.mit.edu	37	12	101880233	101880233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr12:101880233C>A	ENST00000551346.1	+	6	590	c.431C>A	c.(430-432)tCa>tAa	p.S144*	SPIC_ENST00000299272.5_Nonsense_Mutation_p.S144*			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	144					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CAGTTTGTATCAAAAAACAAA	0.423																																																0													56	60	59					12																	101880233		2203	4300	6503	SO:0001587	stop_gained	121599			AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.431C>A	12.37:g.101880233C>A	ENSP00000448580:p.Ser144*			Nonsense_Mutation	SNP	ENST00000551346.1	37	CCDS9082.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553447	0.96501	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3507	17.9863	0.89157	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000299272:S144X	S	+	2	0	SPIC	100404364	1.000000	0.71417	0.967000	0.41034	0.793000	0.44817	7.261000	0.78400	2.323000	0.78572	0.650000	0.86243	TCA		0.423	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		A	101880233	C	A	101880233	4	1	367	1	0	0	0	0	0	1	0	0	15056	838	29	4	443	4	SPIC	12	101880233	Nonsense_Mutation	SNP	C	TCGA-BP-4795-01A-02D-1421-08	88777163	101880233	31971662	23	20598											
EFNB2	1948	broad.mit.edu	37	13	107164902	107164902	+	Silent	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr13:107164902C>T	ENST00000245323.4	-	2	530	c.381G>A	c.(379-381)caG>caA	p.Q127Q		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	127	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTTTGTTCTTCTGAAATTCTA	0.303																																																0													75	74	74					13																	107164902		2203	4300	6503	SO:0001819	synonymous_variant	1948			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.381G>A	13.37:g.107164902C>T			Q5JV56	Silent	SNP	ENST00000245323.4	37	CCDS9507.1																																																																																				0.303	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		T	107164902	C	T	107164902	2	4	367	1	0	0	0	0	0	0	0	1	4958	912	32	2		2	EFNB2	13	107164902	Silent	SNP	C	TCGA-BP-4795-01A-02D-1421-08		107164902	8004976	24	20599											
DCAF11	80344	broad.mit.edu	37	14	24590630	24590630	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:24590630G>A	ENST00000446197.3	+	13	2030	c.1303G>A	c.(1303-1305)Gga>Aga	p.G435R	RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.R24Q|DCAF11_ENST00000396941.4_Missense_Mutation_p.G409R|DCAF11_ENST00000559115.1_Missense_Mutation_p.G435R|DCAF11_ENST00000396936.1_Missense_Mutation_p.G335R	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	435					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.G435R(1)									CCGGGGCCACGGAGTGCTGCA	0.577																																																1	Substitution - Missense(1)	endometrium(1)											96	85	89					14																	24590630		2203	4300	6503	SO:0001583	missense	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1303G>A	14.37:g.24590630G>A	ENSP00000415556:p.Gly435Arg		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	g	18.52	3.642239	0.67244	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.01295	5.04;5.04	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.03348	0.0097	N	0.14661	0.345	0.80722	D	1	D;D;P;P;D	0.89917	1.0;1.0;0.678;0.474;1.0	D;D;B;B;D	0.70016	0.944;0.967;0.093;0.026;0.95	T	0.72593	-0.4246	10	0.27785	T	0.31	-9.9292	17.2626	0.87075	0.0:0.0:1.0:0.0	.	358;409;335;435;435	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	R	435;409;335;409	ENSP00000380142:G335R;ENSP00000380146:G409R	ENSP00000323680:G435R	G	+	1	0	DCAF11	23660470	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	8.417000	0.90247	2.941000	0.99782	0.655000	0.94253	GGA		0.577	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			A	24590630	G	A	24590630	3	1	367	1	0	0	0	0	1	0	0	0	4264	1117	39	1	1349	1	DCAF11	14	24590630	Missense_Mutation	SNP	G	TCGA-BP-4795-01A-02D-1421-08		24590630	82758910	25	20600											
AKAP6	9472	broad.mit.edu	37	14	33015692	33015692	+	Silent	SNP	A	A	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:33015692A>T	ENST00000280979.4	+	4	2003	c.1833A>T	c.(1831-1833)ccA>ccT	p.P611P	AKAP6_ENST00000557272.1_Silent_p.P611P|AKAP6_ENST00000557354.1_Silent_p.P611P	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	611					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCTCCTCTCCAAGTCACGTCA	0.478																																					Melanoma(49;821 1200 7288 13647 42351)											0													80	82	82					14																	33015692		2202	4300	6502	SO:0001819	synonymous_variant	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1833A>T	14.37:g.33015692A>T			A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.478	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		T	33015692	A	T	33015692	2	4	367	1	0	0	0	0	0	0	0	1	455	117	5	5		5	AKAP6	14	33015692	Silent	SNP	A	TCGA-BP-4795-01A-02D-1421-08	8425062	33015692	74333848	26	20601											
CTAGE5	4253	broad.mit.edu	37	14	39819379	39819379	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:39819379T>A	ENST00000280083.3	+	24	2640	c.2326T>A	c.(2326-2328)Tct>Act	p.S776T	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.S1311T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S747T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S747T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S701T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S747T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.S781T|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S733T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S696T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S764T|CTAGE5_ENST00000341502.5_Intron			O15320	CTGE5_HUMAN	CTAGE family, member 5	776	Pro-rich.			S -> F (in Ref. 2; AAN77610). {ECO:0000305}.	positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ACCCCCACATTCTGAAGGTAG	0.463																																																0													77	80	79					14																	39819379		2203	4300	6503	SO:0001583	missense	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2326T>A	14.37:g.39819379T>A	ENSP00000280083:p.Ser776Thr		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047758	0.36085	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T	0.08634	3.24;3.08;3.08;3.08;3.37;3.37;3.07;3.57;3.08	5.09	-0.544	0.11847	.	1.196880	0.06497	N	0.735739	T	0.11836	0.0288	L	0.54323	1.7	0.20403	N	0.999909	B;B;B;B;B	0.27679	0.185;0.152;0.185;0.152;0.082	B;B;B;B;B	0.35312	0.2;0.153;0.2;0.099;0.132	T	0.46331	-0.9199	9	.	.	.	.	9.8693	0.41164	0.0:0.6616:0.0:0.3384	.	781;733;776;704;764	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	T	1311;764;696;644;747;781;776;701;733;747	ENSP00000452252:S1311T;ENSP00000343897:S764T;ENSP00000450869:S696T;ENSP00000379468:S747T;ENSP00000379462:S781T;ENSP00000280083:S776T;ENSP00000452562:S701T;ENSP00000343912:S733T;ENSP00000450449:S747T	.	S	+	1	0	CTAGE5;RP11-407N17.3	38889130	0.832000	0.29368	0.163000	0.22734	0.760000	0.43138	0.690000	0.25451	-0.301000	0.08882	0.460000	0.39030	TCT		0.463	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		A	39819379	T	A	39819379	3	1	367	1	0	0	0	0	1	0	0	0	3996	1783	62	5	2451	5	CTAGE5	14	39819379	Missense_Mutation	SNP	T	TCGA-BP-4795-01A-02D-1421-08	6803687	39819379	67530161	27	20602											
EML5	161436	broad.mit.edu	37	14	89153576	89153576	+	Silent	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:89153576C>T	ENST00000380664.5	-	19	2837	c.2838G>A	c.(2836-2838)ttG>ttA	p.L946L	EML5_ENST00000352093.5_Silent_p.L908L|EML5_ENST00000554922.1_Silent_p.L946L			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	946						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATCCTGGGGCCAATGCAGCTC	0.393																																																0													55	48	50					14																	89153576		1817	4077	5894	SO:0001819	synonymous_variant	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2838G>A	14.37:g.89153576C>T			B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																				0.393	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			T	89153576	C	T	89153576	2	4	367	1	0	0	0	0	0	0	0	1	5102	593	21	2		2	EML5	14	89153576	Silent	SNP	C	TCGA-BP-4795-01A-02D-1421-08	49334197	89153576	18195964	28	20603											
LRRC49	54839	broad.mit.edu	37	15	71276512	71276512	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr15:71276512A>C	ENST00000260382.5	+	11	1345	c.1085A>C	c.(1084-1086)aAt>aCt	p.N362T	LRRC49_ENST00000560691.1_Missense_Mutation_p.N68T|LRRC49_ENST00000560369.1_Missense_Mutation_p.N367T|LRRC49_ENST00000560158.2_Missense_Mutation_p.N50T|LRRC49_ENST00000443425.2_Missense_Mutation_p.N318T|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.N352T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	362						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATTGCTACAAATGAAGATAGA	0.413																																																0													113	100	105					15																	71276512		2199	4297	6496	SO:0001583	missense	54839				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1085A>C	15.37:g.71276512A>C	ENSP00000260382:p.Asn362Thr		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	4.133	0.022903	0.08006	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.22539	1.95;1.95;1.95	4.31	-0.637	0.11504	.	0.616676	0.17139	N	0.185538	T	0.05090	0.0136	N	0.02539	-0.55	0.19575	N	0.999962	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.001	T	0.33085	-0.9882	10	0.11794	T	0.64	-1.9139	1.1169	0.01716	0.5047:0.1564:0.1871:0.1518	.	367;334;318;362;352	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	T	352;362;318;334	ENSP00000439600:N352T;ENSP00000260382:N362T;ENSP00000414065:N318T	ENSP00000260382:N362T	N	+	2	0	LRRC49	69063566	0.312000	0.24545	0.128000	0.21923	0.711000	0.40976	0.575000	0.23729	-0.003000	0.14444	0.383000	0.25322	AAT		0.413	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		C	71276512	A	C	71276512	3	2	367	1	0	0	0	0	1	0	0	0	9008	101	4	5	1127	5	LRRC49	15	71276512	Missense_Mutation	SNP	A	TCGA-BP-4795-01A-02D-1421-08		71276512	31254880	29	20604											
IDH2	3418	broad.mit.edu	37	15	90631628	90631628	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr15:90631628G>A	ENST00000330062.3	-	5	754	c.641C>T	c.(640-642)gCa>gTa	p.A214V	IDH2_ENST00000540499.2_Missense_Mutation_p.A162V|IDH2_ENST00000539790.1_Missense_Mutation_p.A84V|IDH2_ENST00000559482.1_Missense_Mutation_p.A105V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	214					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CACGCCGCCTGCGGGGAAGTT	0.592			M		GBM																																		Dom	yes		15	15q26.1	3418	"socitrate dehydrogenase 2 (NADP+), mitochondrial "		M	0													94	90	92					15																	90631628		2200	4298	6498	SO:0001583	missense	3418				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.641C>T	15.37:g.90631628G>A	ENSP00000331897:p.Ala214Val		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307710	0.40795	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.69306	-0.39;-0.39;-0.39	5.8	0.112	0.14623	Isopropylmalate dehydrogenase-like domain (2);	0.350978	0.31949	N	0.006816	T	0.56790	0.2009	L	0.46819	1.47	0.09310	N	0.999996	B;B	0.19817	0.039;0.009	B;B	0.11329	0.005;0.006	T	0.55547	-0.8124	10	0.87932	D	0	.	12.5461	0.56201	0.0:0.4737:0.4047:0.1216	.	214;214	Q53GL5;P48735	.;IDHP_HUMAN	V	214;84;162	ENSP00000331897:A214V;ENSP00000438457:A84V;ENSP00000446147:A162V	ENSP00000331897:A214V	A	-	2	0	IDH2	88432632	0.062000	0.20869	0.001000	0.08648	0.651000	0.38670	0.749000	0.26320	0.048000	0.15891	0.462000	0.41574	GCA		0.592	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			A	90631628	G	A	90631628	3	1	367	1	0	0	0	0	1	0	0	0	7497	1319	46	2	745	2	IDH2	15	90631628	Missense_Mutation	SNP	G	TCGA-BP-4795-01A-02D-1421-08	19355116	90631628	11899764	30	20605											
HSF4	3299	broad.mit.edu	37	16	67203204	67203204	+	Missense_Mutation	SNP	G	G	A	rs375615573		TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr16:67203204G>A	ENST00000521374.1	+	12	1277	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q	NOL3_ENST00000432069.2_5'Flank|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.R396Q|HSF4_ENST00000421453.1_Missense_Mutation_p.R396Q|HSF4_ENST00000264009.8_Missense_Mutation_p.R426Q			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	426					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GTTCCAGAGCGGGGTGAGCCT	0.592																																																0													34	38	37					16																	67203204		1996	4172	6168	SO:0001583	missense	3299			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1277G>A	16.37:g.67203204G>A	ENSP00000430947:p.Arg426Gln		Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.361|3.361	-0.130579|-0.130579	0.06753|0.06753	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.73|4.73	-2.69|-2.69	0.06022|0.06022	.|.	.|0.744560	.|0.12324	.|N	.|0.479029	T|T	0.13713|0.13713	0.0332|0.0332	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.28605	.|0.117;0.217	.|B;B	.|0.21546	.|0.035;0.023	T|T	0.32348|0.32348	-0.9910|-0.9910	5|9	.|0.07325	.|T	.|0.83	-23.4889|-23.4889	5.7619|5.7619	0.18205|0.18205	0.3325:0.2466:0.4208:0.0|0.3325:0.2466:0.4208:0.0	.|.	.|396;426	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	R|Q	102|396;426;350;426	.|.	.|ENSP00000264009:R426Q	G|R	+|+	1|2	0|0	HSF4|HSF4	65760705|65760705	0.598000|0.598000	0.26882|0.26882	0.472000|0.472000	0.27241|0.27241	0.871000|0.871000	0.50021|0.50021	0.153000|0.153000	0.16323|0.16323	-0.630000|-0.630000	0.05567|0.05567	-1.872000|-1.872000	0.00552|0.00552	GGG|CGG		0.592	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		A	67203204	G	A	67203204	3	1	367	1	0	0	0	0	1	0	0	0	7400	1116	39	1	1337	1	HSF4	16	67203204	Missense_Mutation	SNP	G	TCGA-BP-4795-01A-02D-1421-08		67203204	23151549	31	20606											
RAP1GAP2	23108	broad.mit.edu	37	17	2901602	2901602	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr17:2901602T>C	ENST00000254695.8	+	14	1222	c.1132T>C	c.(1132-1134)Tcc>Ccc	p.S378P	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.S378P|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.S359P|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.S363P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	378	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CATGATAGCCTCCAATTTCTT	0.493																																																0													124	123	123					17																	2901602		2024	4184	6208	SO:0001583	missense	23108			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1132T>C	17.37:g.2901602T>C	ENSP00000254695:p.Ser378Pro		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.775973	0.90195	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78	5.66	5.66	0.87406	Rap/ran-GAP (2);	0.050796	0.85682	D	0.000000	D	0.98658	0.9550	H	0.98612	4.28	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70016	0.949;0.967	D	0.99636	1.0987	10	0.87932	D	0	-34.9259	15.0728	0.72053	0.0:0.0:0.0:1.0	.	363;378	Q684P5-2;Q684P5	.;RPGP2_HUMAN	P	378;363;359;378	ENSP00000254695:S378P;ENSP00000389824:S363P;ENSP00000439688:S359P;ENSP00000444890:S378P	ENSP00000254695:S378P	S	+	1	0	RAP1GAP2	2848352	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	8.040000	0.89188	2.158000	0.67659	0.459000	0.35465	TCC		0.493	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			C	2901602	T	C	2901602	3	2	367	1	0	0	0	0	1	0	0	0	13044	1551	54	3	1186	3	RAP1GAP2	17	2901602	Missense_Mutation	SNP	T	TCGA-BP-4795-01A-02D-1421-08		2901602	78293608	32	20607											
NAGLU	4669	broad.mit.edu	37	17	40690727	40690727	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr17:40690727C>T	ENST00000225927.2	+	4	819	c.718C>T	c.(718-720)Cca>Tca	p.P240S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	240					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CGGCATGACCCCAGTGCTGCC	0.597																																																0													68	54	59					17																	40690727		2203	4300	6503	SO:0001583	missense	4669				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.718C>T	17.37:g.40690727C>T	ENSP00000225927:p.Pro240Ser			Missense_Mutation	SNP	ENST00000225927.2	37	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057000	0.55325	.	.	ENSG00000108784	ENST00000225927	D	0.98207	-4.79	5.27	1.93	0.25924	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.179946	0.49916	D	0.000135	D	0.98118	0.9379	M	0.87180	2.865	0.28629	N	0.90777	D	0.55605	0.972	P	0.58172	0.834	D	0.94641	0.7830	10	0.59425	D	0.04	-7.6993	3.1192	0.06385	0.2522:0.3927:0.27:0.085	.	240	P54802	ANAG_HUMAN	S	240	ENSP00000225927:P240S	ENSP00000225927:P240S	P	+	1	0	NAGLU	37944253	0.987000	0.35691	0.444000	0.26895	0.524000	0.34500	2.868000	0.48436	0.576000	0.29452	0.555000	0.69702	CCA		0.597	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		T	40690727	C	T	40690727	3	4	367	1	0	0	0	0	1	0	0	0	10145	623	22	2	732	2	NAGLU	17	40690727	Missense_Mutation	SNP	C	TCGA-BP-4795-01A-02D-1421-08	37789125	40690727	40504483	33	20608											
CELF4	56853	broad.mit.edu	37	18	34846536	34846536	+	Silent	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr18:34846536G>T	ENST00000591282.1	-	9	1124	c.1125C>A	c.(1123-1125)ccC>ccA	p.P375P	CELF4_ENST00000420428.2_Silent_p.P375P|CELF4_ENST00000603232.1_Silent_p.P374P|CELF4_ENST00000591287.1_Silent_p.P374P|CELF4_ENST00000361795.5_Silent_p.P373P|CELF4_ENST00000588597.1_Silent_p.P364P|CELF4_ENST00000601019.1_Silent_p.P373P|CELF4_ENST00000412753.1_Silent_p.P374P|CELF4_ENST00000334919.5_Silent_p.P365P			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	375					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCTGCTGCAGGGGGTCCGCGG	0.642																																																0													48	41	43					18																	34846536		2202	4297	6499	SO:0001819	synonymous_variant	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1125C>A	18.37:g.34846536G>T			Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	CCDS32818.1																																																																																				0.642	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		T	34846536	G	T	34846536	2	4	367	1	0	0	0	0	0	0	0	1	3220	1219	43	4		4	CELF4	18	34846536	Silent	SNP	G	TCGA-BP-4795-01A-02D-1421-08		34846536	43230712	34	20609											
KIAA1468	57614	broad.mit.edu	37	18	59895745	59895745	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr18:59895745A>G	ENST00000398130.2	+	8	1594	c.1362A>G	c.(1360-1362)ccA>ccG	p.P454P	KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000256858.6_Silent_p.P454P	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	454										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGAATTCCCCAAATTCATTCC	0.373																																																0													70	66	68					18																	59895745		2203	4300	6503	SO:0001819	synonymous_variant	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1362A>G	18.37:g.59895745A>G				Silent	SNP	ENST00000398130.2	37	CCDS11979.2																																																																																				0.373	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		G	59895745	A	G	59895745	2	3	367	1	0	0	0	0	0	0	0	1	8238	117	5	3		3	KIAA1468	18	59895745	Silent	SNP	A	TCGA-BP-4795-01A-02D-1421-08	25049209	59895745	18181503	35	20610											
OCEL1	79629	broad.mit.edu	37	19	17337970	17337970	+	Silent	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr19:17337970G>A	ENST00000215061.4	+	3	458	c.414G>A	c.(412-414)ggG>ggA	p.G138G	OCEL1_ENST00000601529.1_Silent_p.G138G|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_Silent_p.G82G	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	138										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						TCCCTAAGGGGCATAAGCCTA	0.587																																																0													61	69	66					19																	17337970		2203	4299	6502	SO:0001819	synonymous_variant	79629			BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.414G>A	19.37:g.17337970G>A				Silent	SNP	ENST00000215061.4	37	CCDS12351.1																																																																																				0.587	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		A	17337970	G	A	17337970	2	1	367	1	0	0	0	0	0	0	0	1	10818	1190	42	2		2	OCEL1	19	17337970	Silent	SNP	G	TCGA-BP-4795-01A-02D-1421-08		17337970	41791013	36	20611											
PTPRH	5794	broad.mit.edu	37	19	55716831	55716831	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr19:55716831C>T	ENST00000376350.3	-	4	504	c.482G>A	c.(481-483)gGc>gAc	p.G161D	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	161	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTGCTCTGCCACCATCTCC	0.577																																																0													141	124	130					19																	55716831		2203	4298	6501	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.482G>A	19.37:g.55716831C>T	ENSP00000365528:p.Gly161Asp		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	2.192	-0.384979	0.04966	.	.	ENSG00000080031	ENST00000376350	T	0.52526	0.66	3.78	-3.5	0.04710	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.626050	0.04320	N	0.350610	T	0.21427	0.0516	N	0.14661	0.345	0.09310	N	1	B	0.22604	0.072	B	0.16289	0.015	T	0.08764	-1.0706	10	0.08837	T	0.75	.	0.6012	0.00745	0.1736:0.2867:0.171:0.3686	.	161	Q9HD43	PTPRH_HUMAN	D	161	ENSP00000365528:G161D	ENSP00000365528:G161D	G	-	2	0	PTPRH	60408643	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.461000	0.00230	-0.721000	0.04929	0.430000	0.28490	GGC		0.577	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			T	55716831	C	T	55716831	3	4	367	1	0	0	0	0	1	0	0	0	12809	739	26	2	2933	2	PTPRH	19	55716831	Missense_Mutation	SNP	C	TCGA-BP-4795-01A-02D-1421-08	38378861	55716831	3412152	37	20612											
BMP2	650	broad.mit.edu	37	20	6759595	6759595	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr20:6759595C>G	ENST00000378827.4	+	3	2269	c.1050C>G	c.(1048-1050)aaC>aaG	p.N350K		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	350					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						CGTTGGTCAACTCTGTTAACT	0.468																																																0													129	101	111					20																	6759595		2203	4300	6503	SO:0001583	missense	650				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.1050C>G	20.37:g.6759595C>G	ENSP00000368104:p.Asn350Lys			Missense_Mutation	SNP	ENST00000378827.4	37	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513333	0.44660	.	.	ENSG00000125845	ENST00000378827	D	0.83419	-1.72	5.45	3.13	0.36017	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87553	0.6206	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85463	0.1168	10	0.87932	D	0	.	5.9417	0.19196	0.0:0.2554:0.0:0.7446	.	350	P12643	BMP2_HUMAN	K	350	ENSP00000368104:N350K	ENSP00000368104:N350K	N	+	3	2	BMP2	6707595	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.606000	0.46291	0.517000	0.28361	0.650000	0.86243	AAC		0.468	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			G	6759595	C	G	6759595	3	3	367	1	0	0	0	0	1	0	0	0	1459	564	20	4	1056	4	BMP2	20	6759595	Missense_Mutation	SNP	C	TCGA-BP-4795-01A-02D-1421-08		6759595	56265925	38	20613											
UTP14A	10813	broad.mit.edu	37	X	129058772	129058772	+	Splice_Site	SNP	T	T	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chrX:129058772T>G	ENST00000394422.3	+	12	1378	c.1350T>G	c.(1348-1350)gaT>gaG	p.D450E	UTP14A_ENST00000371051.5_Splice_Site_p.D396E|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Splice_Site_p.D398E|UTP14A_ENST00000371042.3_Splice_Site_p.D282E	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	450					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTCCCCCAGATTCTGGCAGCC	0.448																																																0													143	154	150					X																	129058772		2202	4295	6497	SO:0001630	splice_region_variant	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1349-1T>G	X.37:g.129058772T>G			A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Splice_Site	SNP	ENST00000394422.3	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.520660	0.27211	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	6.08	3.58	0.41010	.	0.324971	0.34628	N	0.003806	T	0.14442	0.0349	M	0.66439	2.03	0.20926	N	0.999823	B;B;B	0.23442	0.057;0.085;0.049	B;B;B	0.23275	0.037;0.045;0.038	T	0.21449	-1.0245	10	0.12103	T	0.63	.	4.8228	0.13400	0.1698:0.0932:0.0:0.737	.	396;398;450	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	E	398;450;396;282;282	ENSP00000388669:D398E;ENSP00000377944:D450E;ENSP00000360090:D396E;ENSP00000413187:D282E;ENSP00000360081:D282E	ENSP00000360081:D282E	D	+	3	2	UTP14A	128886453	0.956000	0.32656	0.955000	0.39395	0.180000	0.23129	1.296000	0.33389	2.044000	0.60594	0.486000	0.48141	GAT		0.448	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	Missense_Mutation	G	129058772	T	G	129058772	5	3	367	1	0	0	0	0	0	0	1	0	17100	1507	52	5	1396	5	UTP14A	23	129058772	Splice_Site	SNP	T	TCGA-BP-4795-01A-02D-1421-08		129058772	26211788	39	20614											
PHF13	148479	hgsc.bcm.edu;ucsc.edu	37	1	6676887	6676887	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr1:6676887C>T	ENST00000377648.4	+	2	492	c.110C>T	c.(109-111)gCc>gTc	p.A37V	PHF13_ENST00000495385.1_Intron|KLHL21_ENST00000467612.1_5'Flank|KLHL21_ENST00000463043.1_5'Flank	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	37					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		TTTGTCTTGGCCTATGCTGGC	0.483																																																0													144	115	125					1																	6676887		2203	4300	6503	SO:0001583	missense	148479			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"Zinc fingers, PHD-type"	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.110C>T	1.37:g.6676887C>T	ENSP00000366876:p.Ala37Val		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	ENST00000377648.4	37	CCDS85.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232574	0.95207	.	.	ENSG00000116273	ENST00000377648	T	0.47177	0.85	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.71115	-0.4686	10	0.87932	D	0	-0.319	17.526	0.87800	0.0:1.0:0.0:0.0	.	37	Q86YI8	PHF13_HUMAN	V	37	ENSP00000366876:A37V	ENSP00000366876:A37V	A	+	2	0	PHF13	6599474	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	7.403000	0.79983	2.527000	0.85204	0.655000	0.94253	GCC		0.483	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		T	6676887	C	T	6676887	3	4	368	1	0	0	0	0	1	0	0	0	11826	739	26	2	116	2	PHF13	1	6676887	Missense_Mutation	SNP	C	TCGA-BP-4797-01A-01D-1373-10		6676887	242573734	1	20615											
MACF1	23499	hgsc.bcm.edu;ucsc.edu	37	1	39799692	39799692	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr1:39799692T>G	ENST00000372915.3	+	36	7534	c.7447T>G	c.(7447-7449)Tta>Gta	p.L2483V	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.L2478V|MACF1_ENST00000289893.4_Missense_Mutation_p.L918V|MACF1_ENST00000567887.1_Missense_Mutation_p.L2515V|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2483					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAAGCACCTTTAACAGTTGT	0.408																																																0													132	139	136					1																	39799692		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7447T>G	1.37:g.39799692T>G	ENSP00000362006:p.Leu2483Val		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	T	10.99	1.506797	0.26949	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.69685	-0.42;-0.42	5.57	3.27	0.37495	.	0.000000	0.44902	D	0.000403	T	0.58061	0.2096	L	0.50919	1.6	0.80722	D	1	P	0.42296	0.775	B	0.39660	0.306	T	0.54596	-0.8270	10	0.48119	T	0.1	.	9.1699	0.37074	0.0:0.2714:0.0:0.7286	.	2483	Q9UPN3	MACF1_HUMAN	V	2483;918	ENSP00000362006:L2483V;ENSP00000289893:L918V	ENSP00000289893:L918V	L	+	1	2	MACF1	39572279	0.137000	0.22531	0.952000	0.39060	0.905000	0.53344	0.296000	0.19083	0.413000	0.25759	0.459000	0.35465	TTA		0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39799692	T	G	39799692	3	3	368	1	0	0	0	0	1	0	0	0	9146	1838	64	5	7523	5	MACF1	1	39799692	Missense_Mutation	SNP	T	TCGA-BP-4797-01A-01D-1373-10	33122805	39799692	209450929	2	20616											
KANK4	163782	hgsc.bcm.edu	37	1	62740019	62740019	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr1:62740019A>G	ENST00000371153.4	-	3	1135	c.757T>C	c.(757-759)Tca>Cca	p.S253P	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	253	Pro-rich.					cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTCTGGAATGAGAAAGGAGGG	0.552																																																0													42	38	39					1																	62740019		2203	4300	6503	SO:0001583	missense	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.757T>C	1.37:g.62740019A>G	ENSP00000360195:p.Ser253Pro		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606388	0.28623	.	.	ENSG00000132854	ENST00000371153	T	0.47528	0.84	5.27	-1.33	0.09172	.	1.611770	0.04220	N	0.333438	T	0.37156	0.0993	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14090	-1.0485	10	0.34782	T	0.22	-0.4801	1.3882	0.02245	0.2893:0.2788:0.2964:0.1355	.	253	Q5T7N3	KANK4_HUMAN	P	253	ENSP00000360195:S253P	ENSP00000360195:S253P	S	-	1	0	KANK4	62512607	.	.	0.000000	0.03702	0.042000	0.13812	.	.	-0.251000	0.09542	0.379000	0.24179	TCA		0.552	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		G	62740019	A	G	62740019	3	3	368	1	0	0	0	0	1	0	0	0	7981	304	11	3	2262	3	KANK4	1	62740019	Missense_Mutation	SNP	A	TCGA-BP-4797-01A-01D-1373-10	22940327	62740019	186510602	3	20617											
BAT2L2	23215	hgsc.bcm.edu;ucsc.edu	37	1	171505374	171505374	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr1:171505374G>T	ENST00000338920.4	+	14	2481	c.2244G>T	c.(2242-2244)atG>atT	p.M748I	PRRC2C_ENST00000426496.2_Missense_Mutation_p.M748I|PRRC2C_ENST00000367742.3_Missense_Mutation_p.M750I|PRRC2C_ENST00000392078.3_Missense_Mutation_p.M750I	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	748	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ATCCTCGAATGATGTCAGGAA	0.423																																																0													114	94	101					1																	171505374		2203	4300	6503	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2244G>T	1.37:g.171505374G>T	ENSP00000343629:p.Met748Ile		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682988	0.47991	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000036	T	0.02455	0.0075	L	0.45051	1.395	0.50813	D	0.999893	B	0.24721	0.11	B	0.20184	0.028	T	0.49466	-0.8937	10	0.18710	T	0.47	.	16.336	0.83060	0.0:0.1319:0.8681:0.0	.	748	Q9Y520-4	.	I	750;749;748;750;748;505;507	ENSP00000375928:M750I;ENSP00000410219:M748I;ENSP00000356716:M750I;ENSP00000343629:M748I	ENSP00000343629:M748I	M	+	3	0	PRRC2C	169771998	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.974000	0.70465	2.736000	0.93811	0.655000	0.94253	ATG		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		T	171505374	G	T	171505374	3	4	368	1	0	0	0	0	1	0	0	0	1321	1290	45	4	2294	4	BAT2L2	1	171505374	Missense_Mutation	SNP	G	TCGA-BP-4797-01A-01D-1373-10	108765355	171505374	77745247	4	20618											
GREB1	9687	hgsc.bcm.edu;ucsc.edu	37	2	11755345	11755345	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr2:11755345A>G	ENST00000381486.2	+	20	3551	c.3251A>G	c.(3250-3252)aAc>aGc	p.N1084S	GREB1_ENST00000234142.5_Missense_Mutation_p.N1084S|GREB1_ENST00000396123.1_Missense_Mutation_p.N82S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1084						integral component of membrane (GO:0016021)		p.N1084I(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGGGCTAGGAACGAGGCCTTG	0.577																																					Ovarian(39;850 945 2785 23371 33093)											1	Substitution - Missense(1)	ovary(1)											74	79	78					2																	11755345		2103	4224	6327	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3251A>G	2.37:g.11755345A>G	ENSP00000370896:p.Asn1084Ser		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	9.429	1.084955	0.20390	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.20463	3.4;3.4;2.07	5.32	-7.65	0.01281	.	0.931300	0.09174	N	0.838343	T	0.08802	0.0218	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44559	-0.9320	10	0.07325	T	0.83	-25.0896	10.446	0.44495	0.2782:0.1989:0.5229:0.0	.	1084	Q4ZG55	GREB1_HUMAN	S	1084;1084;82	ENSP00000370896:N1084S;ENSP00000234142:N1084S;ENSP00000379429:N82S	ENSP00000234142:N1084S	N	+	2	0	GREB1	11672796	0.009000	0.17119	0.015000	0.15790	0.885000	0.51271	0.455000	0.21843	-1.381000	0.02112	-0.466000	0.05196	AAC		0.577	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		G	11755345	A	G	11755345	3	3	368	1	0	0	0	0	1	0	0	0	6762	43	2	3	3433	3	GREB1	2	11755345	Missense_Mutation	SNP	A	TCGA-BP-4797-01A-01D-1373-10		11755345	231444028	5	20619											
FAM98A	25940	hgsc.bcm.edu;ucsc.edu	37	2	33809869	33809869	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr2:33809869C>G	ENST00000238823.8	-	8	1671	c.1531G>C	c.(1531-1533)Gga>Cga	p.G511R	FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Missense_Mutation_p.G316R|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	512	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTTCCCTGTCCAAATCCAGAA	0.433																																																0													194	189	191					2																	33809869		2203	4300	6503	SO:0001583	missense	25940				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1531G>C	2.37:g.33809869C>G	ENSP00000238823:p.Gly511Arg		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378075	0.42105	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;T	0.54071	0.68;0.59	6.05	6.05	0.98169	.	0.123601	0.56097	D	0.000025	T	0.63640	0.2528	L	0.43152	1.355	0.50467	D	0.999877	D;D;D;D	0.57571	0.965;0.965;0.98;0.965	P;P;P;P	0.57152	0.742;0.742;0.814;0.742	T	0.59804	-0.7385	10	0.48119	T	0.1	-11.8771	20.6013	0.99457	0.0:1.0:0.0:0.0	.	512;342;511;349	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	R	511;512;316	ENSP00000238823:G511R;ENSP00000408716:G316R	ENSP00000238823:G511R	G	-	1	0	FAM98A	33663373	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.356000	0.66052	2.878000	0.98634	0.650000	0.86243	GGA		0.433	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		G	33809869	C	G	33809869	3	3	368	1	0	0	0	0	1	0	0	0	5658	603	21	4	29	4	FAM98A	2	33809869	Missense_Mutation	SNP	C	TCGA-BP-4797-01A-01D-1373-10	22054524	33809869	209389504	6	20620											
NDUFS1	4719	hgsc.bcm.edu;ucsc.edu	37	2	206994925	206994925	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr2:206994925G>T	ENST00000233190.6	-	15	1861	c.1595C>A	c.(1594-1596)cCt>cAt	p.P532H	NDUFS1_ENST00000423725.1_Missense_Mutation_p.P475H|NDUFS1_ENST00000440274.1_Missense_Mutation_p.P496H|NDUFS1_ENST00000432169.1_Missense_Mutation_p.P421H|NDUFS1_ENST00000449699.1_Missense_Mutation_p.P532H|NDUFS1_ENST00000455934.2_Missense_Mutation_p.P546H|NDUFS1_ENST00000457011.1_Missense_Mutation_p.P416H	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	532					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCCACCCCAGGCTTATAGCC	0.428																																																0													77	73	74					2																	206994925		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1595C>A	2.37:g.206994925G>T	ENSP00000233190:p.Pro532His		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	g	26.5	4.748183	0.89663	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	5.7	5.7	0.88788	Molybdopterin oxidoreductase (1);	0.208175	0.51477	D	0.000095	D	0.95717	0.8607	M	0.85859	2.78	0.80722	D	1	B;D;D;D	0.71674	0.134;0.993;0.998;0.996	P;D;D;D	0.64877	0.497;0.928;0.93;0.93	D	0.95846	0.8870	10	0.87932	D	0	-2.1501	19.8292	0.96628	0.0:0.0:1.0:0.0	.	421;496;546;532	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	H	532;475;416;496;546;532;421	ENSP00000233190:P532H;ENSP00000397760:P475H;ENSP00000400976:P416H;ENSP00000409766:P496H;ENSP00000392709:P546H;ENSP00000399912:P532H;ENSP00000409689:P421H	ENSP00000233190:P532H	P	-	2	0	NDUFS1	206703170	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	9.512000	0.98008	2.689000	0.91719	0.491000	0.48974	CCT		0.428	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		T	206994925	G	T	206994925	3	4	368	1	0	0	0	0	1	0	0	0	10293	1000	35	4	608	4	NDUFS1	2	206994925	Missense_Mutation	SNP	G	TCGA-BP-4797-01A-01D-1373-10	173185056	206994925	36204448	7	20621											
SLC2A9	56606	hgsc.bcm.edu	37	4	9922170	9922170	+	Missense_Mutation	SNP	C	C	G	rs73225891	byFrequency	TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr4:9922170C>G	ENST00000264784.3	-	7	894	c.841G>C	c.(841-843)Gac>Cac	p.D281H	SLC2A9_ENST00000506583.1_Missense_Mutation_p.D252H|SLC2A9_ENST00000309065.3_Missense_Mutation_p.D252H|RP13-560N11.1_ENST00000504249.1_RNA	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	281			D -> H (in dbSNP:rs73225891). {ECO:0000269|PubMed:18327256, ECO:0000269|PubMed:18327257}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TGGGAAACGTCTGCTTTACCC	0.577													C|||	33	0.00658946	0.0008	0.0029	5008	,	,		21096	0.0		0.0288	False		,,,				2504	0.001															0								C	HIS/ASP,HIS/ASP	16,4390	23.3+/-48.9	0,16,2187	55	49	51		754,841	4.3	0	4	dbSNP_130	51	251,8349	97.7+/-159.3	3,245,4052	yes	missense,missense	SLC2A9	NM_001001290.1,NM_020041.2	81,81	3,261,6239	GG,GC,CC		2.9186,0.3631,2.0529	probably-damaging,probably-damaging	252/512,281/541	9922170	267,12739	2203	4300	6503	SO:0001583	missense	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.841G>C	4.37:g.9922170C>G	ENSP00000264784:p.Asp281His		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	CCDS3407.1	25	0.011446886446886446	0	0.0	1	0.0027624309392265192	0	0.0	24	0.0316622691292876	C	14.12	2.441599	0.43326	0.003631	0.029186	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.76448	-1.02;-1.02;-1.02	5.2	4.35	0.52113	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050418	0.85682	N	0.000000	T	0.79227	0.4410	M	0.90977	3.165	0.46631	D	0.999132	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.86646	0.1895	9	.	.	.	.	14.7733	0.69696	0.0:0.8548:0.1452:0.0	.	252;281	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	H	252;281;252	ENSP00000422209:D252H;ENSP00000264784:D281H;ENSP00000311383:D252H	.	D	-	1	0	SLC2A9	9531268	0.999000	0.42202	0.012000	0.15200	0.003000	0.03518	4.335000	0.59298	1.167000	0.42706	0.650000	0.86243	GAC		0.577	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			G	9922170	C	G	9922170	3	3	368	1	0	0	0	0	1	0	0	0	14558	913	32	4	805	4	SLC2A9	4	9922170	Missense_Mutation	SNP	C	TCGA-BP-4797-01A-01D-1373-10		9922170	181232106	8	20622											
NFKB1	4790	hgsc.bcm.edu	37	4	103528456	103528456	+	Missense_Mutation	SNP	G	G	A	rs111293796		TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr4:103528456G>A	ENST00000505458.1	+	18	2378	c.2101G>A	c.(2101-2103)Gca>Aca	p.A701T	NFKB1_ENST00000600343.1_Missense_Mutation_p.A521T|NFKB1_ENST00000394820.4_Missense_Mutation_p.A701T|NFKB1_ENST00000226574.4_Missense_Mutation_p.A702T			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	701	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CATCTCATTGGCAGGCTGCCT	0.527																																																0													75	73	74					4																	103528456		2203	4300	6503	SO:0001583	missense	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2101G>A	4.37:g.103528456G>A	ENSP00000424790:p.Ala701Thr		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107042	0.94292	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.39997	1.05;1.05;1.05	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64616	0.2614	M	0.70275	2.135	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.66064	-0.6016	10	0.45353	T	0.12	.	18.0418	0.89321	0.0:0.0:1.0:0.0	.	521;701;702	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	T	702;701;701	ENSP00000226574:A702T;ENSP00000378297:A701T;ENSP00000424790:A701T	ENSP00000226574:A702T	A	+	1	0	NFKB1	103747494	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	8.179000	0.89692	2.308000	0.77769	0.655000	0.94253	GCA		0.527	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			A	103528456	G	A	103528456	3	1	368	1	0	0	0	0	1	0	0	0	10377	1203	42	2	2170	2	NFKB1	4	103528456	Missense_Mutation	SNP	G	TCGA-BP-4797-01A-01D-1373-10	93606286	103528456	87625820	9	20623											
ADAD1	132612	hgsc.bcm.edu;ucsc.edu	37	4	123332503	123332503	+	Silent	SNP	C	C	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr4:123332503C>T	ENST00000296513.2	+	9	1160	c.975C>T	c.(973-975)taC>taT	p.Y325Y	ADAD1_ENST00000388725.2_Silent_p.Y307Y|ADAD1_ENST00000388724.2_Silent_p.Y314Y	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	325	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGCCTTTACATGAACCAGT	0.348																																																0													96	92	93					4																	123332503		2203	4300	6503	SO:0001819	synonymous_variant	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.975C>T	4.37:g.123332503C>T			A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	ENST00000296513.2	37	CCDS34058.1																																																																																				0.348	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		T	123332503	C	T	123332503	2	4	368	1	0	0	0	0	0	0	0	1	231	489	17	2		2	ADAD1	4	123332503	Silent	SNP	C	TCGA-BP-4797-01A-01D-1373-10	19804047	123332503	67821773	10	20624											
JARID2	3720	hgsc.bcm.edu;ucsc.edu	37	6	15513604	15513604	+	Missense_Mutation	SNP	C	C	A	rs377162599		TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr6:15513604C>A	ENST00000341776.2	+	16	3645	c.3401C>A	c.(3400-3402)aCg>aAg	p.T1134K	JARID2_ENST00000397311.3_Missense_Mutation_p.T962K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1134					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAGTTGGAGACGTCAGAGAGG	0.642																																																0													67	60	62					6																	15513604		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3401C>A	6.37:g.15513604C>A	ENSP00000341280:p.Thr1134Lys		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617116	0.46736	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	D;D	0.83673	-1.75;-1.75	4.15	4.15	0.48705	.	0.122035	0.56097	D	0.000023	T	0.76506	0.3997	N	0.24115	0.695	0.54753	D	0.999985	D	0.58620	0.983	P	0.56474	0.799	T	0.76443	-0.2957	10	0.30854	T	0.27	-12.0332	16.6122	0.84886	0.0:1.0:0.0:0.0	.	1134	Q92833	JARD2_HUMAN	K	1134;962	ENSP00000341280:T1134K;ENSP00000380478:T962K	ENSP00000341280:T1134K	T	+	2	0	JARID2	15621583	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.508000	0.81686	2.140000	0.66376	0.462000	0.41574	ACG		0.642	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		A	15513604	C	A	15513604	3	1	368	1	0	0	0	0	1	0	0	0	7947	536	19	4	3463	4	JARID2	6	15513604	Missense_Mutation	SNP	C	TCGA-BP-4797-01A-01D-1373-10		15513604	155601463	11	20625											
C14orf174	161394	hgsc.bcm.edu	37	14	77844691	77844691	+	Silent	SNP	A	A	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr14:77844691A>G	ENST00000216471.4	+	1	1216	c.930A>G	c.(928-930)ccA>ccG	p.P310P	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	310										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGACTAAACCAGACTTTCCAG	0.458																																																0													82	82	82					14																	77844691		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.930A>G	14.37:g.77844691A>G			Q2M3P3	Silent	SNP	ENST00000216471.4	37	CCDS32126.1																																																																																				0.458	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		G	77844691	A	G	77844691	2	3	368	1	0	0	0	0	0	0	0	1	1761	175	7	3		3	C14orf174	14	77844691	Silent	SNP	A	TCGA-BP-4797-01A-01D-1373-10		77844691	29504849	12	20626											
PAK6	56924	hgsc.bcm.edu	37	15	40568129	40568129	+	Splice_Site	SNP	T	T	C			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr15:40568129T>C	ENST00000542403.2	+	9	1991	c.1880T>C	c.(1879-1881)gTc>gCc	p.V627A	PAK6_ENST00000560346.1_Splice_Site_p.V627A|PAK6_ENST00000453867.1_Splice_Site_p.V627A|PAK6_ENST00000455577.2_Splice_Site_p.V582A|PAK6_ENST00000260404.4_Splice_Site_p.V627A|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Splice_Site_p.V627A	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	627	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCTCTACAGGTCTCCCCAGTG	0.562																																																0													87	85	86					15																	40568129		2203	4300	6503	SO:0001630	splice_region_variant	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1879-1T>C	15.37:g.40568129T>C			A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.182235	0.38511	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.41400	2.52;2.52;1.0;2.52;2.52	4.48	3.32	0.38043	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.322762	0.31747	N	0.007126	T	0.27663	0.0680	L	0.33792	1.035	0.46798	D	0.999207	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.003	T	0.15896	-1.0421	10	0.48119	T	0.1	.	4.9302	0.13914	0.0:0.3212:0.0:0.6788	.	627;582	Q9NQU5;G5E9R2	PAK6_HUMAN;.	A	627;627;582;627;627	ENSP00000406873:V627A;ENSP00000401153:V627A;ENSP00000409465:V582A;ENSP00000260404:V627A;ENSP00000439597:V627A	ENSP00000260404:V627A	V	+	2	0	PAK6	38355421	0.993000	0.37304	1.000000	0.80357	0.849000	0.48306	2.426000	0.44731	1.884000	0.54569	0.459000	0.35465	GTC		0.562	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1		Missense_Mutation	C	40568129	T	C	40568129	5	2	368	1	0	0	0	0	0	0	1	0	11406	1681	58	3	1910	3	PAK6	15	40568129	Splice_Site	SNP	T	TCGA-BP-4797-01A-01D-1373-10		40568129	61963263	13	20627											
ZNF844	284391	hgsc.bcm.edu;ucsc.edu	37	19	12186207	12186207	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr19:12186207C>G	ENST00000439326.3	+	4	447	c.272C>G	c.(271-273)aCa>aGa	p.T91R	ZNF844_ENST00000441304.2_Missense_Mutation_p.H71D	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CCAGATGACACACTGAACAAA	0.398																																																0													84	76	78					19																	12186207		692	1591	2283	SO:0001583	missense	284391			AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.272C>G	19.37:g.12186207C>G	ENSP00000392024:p.Thr91Arg		Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	CCDS45985.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.008|0.008	-1.916921|-1.916921	0.00503|0.00503	.|.	.|.	ENSG00000223547|ENSG00000223547	ENST00000441304|ENST00000439326;ENST00000541708;ENST00000535505	T|T	0.01887|0.07567	4.58|3.18	2.1|2.1	-4.19|-4.19	0.03835|0.03835	.|.	.|.	.|.	.|.	.|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.12961|0.12961	0.28|0.28	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.43294|0.43294	-0.9400|-0.9400	7|9	0.87932|0.15066	D|T	0|0.55	.|.	0.7088|0.7088	0.00920|0.00920	0.1629:0.2639:0.2699:0.3033|0.1629:0.2639:0.2699:0.3033	.|.	.|91	.|Q08AG5	.|ZN844_HUMAN	D|R	71|91	ENSP00000402097:H71D|ENSP00000392024:T91R	ENSP00000402097:H71D|ENSP00000392024:T91R	H|T	+|+	1|2	0|0	ZNF844|ZNF844	12047207|12047207	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.421000|-1.421000	0.02455|0.02455	-2.174000|-2.174000	0.00772|0.00772	-1.415000|-1.415000	0.01116|0.01116	CAC|ACA		0.398	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			G	12186207	C	G	12186207	3	3	368	1	0	0	0	0	1	0	0	0	18195	478	17	4	286	4	ZNF844	19	12186207	Missense_Mutation	SNP	C	TCGA-BP-4797-01A-01D-1373-10		12186207	46942776	14	20628											
AKT2	208	hgsc.bcm.edu	37	19	40741045	40741045	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr19:40741045G>A	ENST00000392038.2	-	13	1571	c.1273C>T	c.(1273-1275)Ccc>Tcc	p.P425S	AKT2_ENST00000424901.1_Missense_Mutation_p.P425S|AKT2_ENST00000579047.1_Missense_Mutation_p.P363S|AKT2_ENST00000311278.6_Missense_Mutation_p.P382S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	425	AGC-kinase C-terminal.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGTTTGAAGGGTGGCAGGAGC	0.602			A		"ovarian, pancreatic "																																		Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0													130	116	120					19																	40741045		2203	4300	6503	SO:0001583	missense	208			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1273C>T	19.37:g.40741045G>A	ENSP00000375892:p.Pro425Ser		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225669	0.58668	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278	T;T;T	0.58060	0.36;0.36;0.36	5.29	5.29	0.74685	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.100868	0.64402	D	0.000001	T	0.62011	0.2393	M	0.87328	2.875	0.80722	D	1	P;B;P	0.40107	0.703;0.17;0.703	B;B;B	0.38921	0.285;0.15;0.207	T	0.70274	-0.4917	10	0.59425	D	0.04	.	17.8644	0.88792	0.0:0.0:1.0:0.0	.	363;382;425	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	S	425;326;425;382	ENSP00000375892:P425S;ENSP00000399532:P425S;ENSP00000309428:P382S	ENSP00000309428:P382S	P	-	1	0	AKT2	45432885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.492000	0.81482	2.761000	0.94854	0.655000	0.94253	CCC		0.602	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		A	40741045	G	A	40741045	3	1	368	1	0	0	0	0	1	0	0	0	480	1261	44	2	180	2	AKT2	19	40741045	Missense_Mutation	SNP	G	TCGA-BP-4797-01A-01D-1373-10	28554838	40741045	18387938	15	20629											
ANKRD5	63926	hgsc.bcm.edu	37	20	10030475	10030475	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chr20:10030475A>T	ENST00000378380.3	+	6	1587	c.1258A>T	c.(1258-1260)Atg>Ttg	p.M420L	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.M420L|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	420							calcium ion binding (GO:0005509)										GGAAAAAGGGATGGGCAAAAA	0.433																																																0													48	54	52					20																	10030475		2203	4300	6503	SO:0001583	missense	0			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1258A>T	20.37:g.10030475A>T	ENSP00000367631:p.Met420Leu		B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	A	7.428	0.638102	0.14386	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.64618	-0.11;-0.11	5.87	-0.943	0.10395	Ankyrin repeat-containing domain (1);	0.707067	0.15728	N	0.247591	T	0.37679	0.1012	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11542	-1.0583	10	0.22706	T	0.39	-2.7634	3.4062	0.07341	0.4109:0.3164:0.0595:0.2132	.	420	Q9NU02	ANKR5_HUMAN	L	420	ENSP00000367644:M420L;ENSP00000367631:M420L	ENSP00000367631:M420L	M	+	1	0	ANKRD5	9978475	0.032000	0.19561	0.002000	0.10522	0.365000	0.29674	1.513000	0.35823	-0.365000	0.08076	0.533000	0.62120	ATG		0.433	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		T	10030475	A	T	10030475	3	4	368	1	0	0	0	0	1	0	0	0	676	333	12	5	1276	5	ANKRD5	20	10030475	Missense_Mutation	SNP	A	TCGA-BP-4797-01A-01D-1373-10		10030475	52995045	16	20630											
ASMTL	8623	hgsc.bcm.edu	37	X	1537002	1537002	+	Silent	SNP	C	C	G			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chrX:1537002C>G	ENST00000381317.3	-	11	1418	c.1386G>C	c.(1384-1386)acG>acC	p.T462T	ASMTL_ENST00000381333.4_Silent_p.T446T|ASMTL_ENST00000416733.2_Silent_p.T386T|ASMTL_ENST00000534940.1_Silent_p.T404T	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	462	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGTGCACCCGTGCAGCCTG	0.582													c|||	3352	0.669329	0.3699	0.7161	5008	,	,		19444	0.8294		0.6859	False		,,,				2504	0.8589															0									,,	1770,2444		379,1012,716	82	99	93		1212,1338,1386	-2.9	0.5	X		93	5876,2566		2051,1774,396	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	2430,2786,1112	GG,GC,CC		30.3956,42.0028,39.586	,,	404/564,446/606,462/622	1537002	7646,5010	2107	4221	6328	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1386G>C	X.37:g.1537002C>G			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	CCDS43917.1																																																																																				0.582	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		G	1537002	C	G	1537002	2	3	368	1	0	0	0	0	0	0	0	1	1046	639	23	4		4	ASMTL	23	1537002	Silent	SNP	C	TCGA-BP-4797-01A-01D-1373-10		1537002	153733558	17	20631											
GATA1	2623	hgsc.bcm.edu	37	X	48649553	48649553	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chrX:48649553G>A	ENST00000376670.3	+	2	148	c.37G>A	c.(37-39)Gag>Aag	p.E13K	GATA1_ENST00000376665.3_Missense_Mutation_p.E13K	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	13					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M1fs(7)|p.E13*(1)|p.E2fs*444(1)|p.E13fs*26(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GGGGACCTCAGAGCCCCTCCC	0.607			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	10	Deletion - Frameshift(8)|Substitution - Nonsense(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(10)											29	21	24					X																	48649553		2203	4299	6502	SO:0001583	missense	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.37G>A	X.37:g.48649553G>A	ENSP00000365858:p.Glu13Lys		Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	g	13.93	2.383163	0.42207	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.98455	-4.94;-4.69	3.53	3.53	0.40419	.	0.406531	0.21403	U	0.075108	D	0.95884	0.8660	L	0.46157	1.445	0.39049	D	0.960297	B	0.02656	0.0	B	0.01281	0.0	D	0.94686	0.7870	10	0.72032	D	0.01	-9.5447	10.1191	0.42609	0.0:0.0:1.0:0.0	.	13	P15976	GATA1_HUMAN	K	13	ENSP00000365858:E13K;ENSP00000365853:E13K	ENSP00000365853:E13K	E	+	1	0	GATA1	48534497	0.998000	0.40836	0.980000	0.43619	0.653000	0.38743	3.201000	0.51059	1.382000	0.46385	0.165000	0.16767	GAG		0.607	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		A	48649553	G	A	48649553	3	1	368	1	0	0	0	0	1	0	0	0	6255	943	33	2	39	2	GATA1	23	48649553	Missense_Mutation	SNP	G	TCGA-BP-4797-01A-01D-1373-10	47112551	48649553	106621007	18	20632											
MAGED1	9500	hgsc.bcm.edu	37	X	51638328	51638328	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chrX:51638328G>T	ENST00000375722.1	+	3	477	c.225G>T	c.(223-225)aaG>aaT	p.K75N	MAGED1_ENST00000326587.7_Missense_Mutation_p.K75N|MAGED1_ENST00000375772.3_Missense_Mutation_p.K75N|MAGED1_ENST00000375695.2_Missense_Mutation_p.K131N|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	75					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTAGGCCTAAGTCAGCCTTTA	0.537										Multiple Myeloma(10;0.10)																																						0													46	37	40					X																	51638328		2203	4300	6503	SO:0001583	missense	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.225G>T	X.37:g.51638328G>T	ENSP00000364874:p.Lys75Asn		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550680	0.27739	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695;ENST00000430189	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	3.47	-2.09	0.07232	.	0.000000	0.41938	D	0.000795	T	0.53302	0.1788	L	0.49126	1.545	0.27067	N	0.96341	D;P;P	0.67145	0.996;0.627;0.473	P;B;B	0.62298	0.9;0.219;0.091	T	0.49854	-0.8895	10	0.59425	D	0.04	.	4.1056	0.10035	0.5342:0.1843:0.2814:0.0	.	75;131;75	B4DQ04;Q9Y5V3-2;Q9Y5V3	.;.;MAGD1_HUMAN	N	75;75;75;131;75	ENSP00000364927:K75N;ENSP00000364874:K75N;ENSP00000325333:K75N;ENSP00000364847:K131N	ENSP00000325333:K75N	K	+	3	2	MAGED1	51655068	1.000000	0.71417	0.878000	0.34440	0.969000	0.65631	0.334000	0.19787	-0.567000	0.06046	0.458000	0.33432	AAG		0.537	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		T	51638328	G	T	51638328	3	4	368	1	0	0	0	0	1	0	0	0	9185	1020	36	4	403	4	MAGED1	23	51638328	Missense_Mutation	SNP	G	TCGA-BP-4797-01A-01D-1373-10	2988775	51638328	103632232	19	20633											
TRO	7216	hgsc.bcm.edu	37	X	54953023	54953023	+	Silent	SNP	C	C	A			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chrX:54953023C>A	ENST00000173898.7	+	9	1777	c.1665C>A	c.(1663-1665)atC>atA	p.I555I	TRO_ENST00000319167.8_Silent_p.I555I|TRO_ENST00000399736.1_Silent_p.I158I|TRO_ENST00000420798.2_Silent_p.I86I|TRO_ENST00000375022.4_Silent_p.I555I|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Silent_p.I158I	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	555	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CAGCTGTCATCTGGGAGGTGC	0.587																																																0													142	133	136					X																	54953023		2203	4300	6503	SO:0001819	synonymous_variant	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1665C>A	X.37:g.54953023C>A			B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	CCDS43959.1																																																																																				0.587	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		A	54953023	C	A	54953023	2	1	368	1	0	0	0	0	0	0	0	1	16579	903	32	4		4	TRO	23	54953023	Silent	SNP	C	TCGA-BP-4797-01A-01D-1373-10	3314695	54953023	100317537	20	20634											
MCTS1	28985	hgsc.bcm.edu	37	X	119739390	119739390	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4797-01A-01D-1373-10	TCGA-BP-4797-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9b7e1bde-7d7f-4fa7-8e87-e1a555c6ebad	5467d704-d6d5-410a-b8b3-15ee3afe92e9	g.chrX:119739390A>T	ENST00000371317.5	+	2	397	c.140A>T	c.(139-141)aAa>aTa	p.K47I	MCTS1_ENST00000371315.3_Missense_Mutation_p.K48I|MCTS1_ENST00000487133.1_3'UTR	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	47					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						ATGCCTAAGAAAGATCCTGTC	0.338																																																0													79	79	79					X																	119739390		2203	4297	6500	SO:0001583	missense	28985			AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.140A>T	X.37:g.119739390A>T	ENSP00000360367:p.Lys47Ile		B4DGY2|Q502X6	Missense_Mutation	SNP	ENST00000371317.5	37	CCDS14601.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102839	0.76983	.	.	ENSG00000232119	ENST00000371317;ENST00000371315	T;T	0.58060	0.37;0.36	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.988	D	0.86232	0.1638	9	.	.	.	-2.6665	13.0665	0.59036	1.0:0.0:0.0:0.0	.	48;47	Q9ULC4-3;Q9ULC4	.;MCTS1_HUMAN	I	47;48	ENSP00000360367:K47I;ENSP00000360365:K48I	.	K	+	2	0	MCTS1	119623418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.210000	0.95106	1.676000	0.50930	0.417000	0.27973	AAA		0.338	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1	NM_014060		T	119739390	A	T	119739390	3	4	368	1	0	0	0	0	1	0	0	0	9404	14	1	5	164	5	MCTS1	23	119739390	Missense_Mutation	SNP	A	TCGA-BP-4797-01A-01D-1373-10	64786367	119739390	35531170	21	20635											
VHL	7428	hgsc.bcm.edu	37	3	10183729	10183730	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4798-01A-01W-1369-10	TCGA-BP-4798-11A-01W-1369-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	7535dcc0-e9d8-4fe0-88ae-1e6f4fa69994	2bb32f23-045f-45de-8f8c-06c1d0049c8a	g.chr3:10183729_10183730insA	ENST00000256474.2	+	1	1038_1039	c.198_199insA	c.(199-201)aacfs	p.N67fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.N67fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	67			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65_N67del(2)|p.R64fs*63(2)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S65fs*92(1)|p.N67fs*65(1)|p.P61fs*61(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCGCTCGGTGAACTCGCGCGA	0.723		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(11)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.200dupA	3.37:g.10183731_10183731dupA	ENSP00000256474:p.Asn67fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.723	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183730	-	A	10183729	7	5	369	1	0	1	1	0	0	0	0	0	17167	1277	45	0	200	0	VHL	3	10183729	Frame_Shift_Ins	INS	-	TCGA-BP-4798-01A-01W-1369-10		10183729	187838701	1	20636											
FCN3	8547	hgsc.bcm.edu	37	1	27699671	27699671	+	Missense_Mutation	SNP	G	G	A	rs28357092|rs532781899	byFrequency	TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr1:27699671G>A	ENST00000270879.4	-	5	354	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	FCN3_ENST00000354982.2_Missense_Mutation_p.L106F	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	117	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGACTGGGAGGGCCCTGCCC	0.632																																																0			GRCh37	CD052457	FCN3	D							51	57	55					1																	27699671		2202	4300	6502	SO:0001583	missense	8547			D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"Fibrinogen C domain containing"	3625	protein-coding gene	gene with protein product	"Hakata antigen"	604973	"ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.349C>T	1.37:g.27699671G>A	ENSP00000270879:p.Leu117Phe		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	CCDS300.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406385	0.62288	.	.	ENSG00000142748	ENST00000270879;ENST00000354982	T;T	0.78707	-1.2;-1.2	4.26	3.34	0.38264	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.473501	0.17285	N	0.179868	T	0.74207	0.3686	N	0.10733	0.035	0.33151	D	0.545652	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.77608	-0.2524	10	0.44086	T	0.13	.	10.1946	0.43047	0.0996:0.0:0.9004:0.0	.	106;117	Q6UXM4;O75636	.;FCN3_HUMAN	F	117;106	ENSP00000270879:L117F;ENSP00000347077:L106F	ENSP00000270879:L117F	L	-	1	0	FCN3	27572258	0.002000	0.14202	0.029000	0.17559	0.987000	0.75469	0.574000	0.23714	1.010000	0.39314	0.655000	0.94253	CTC		0.632	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			A	27699671	G	A	27699671	3	1	370	1	0	0	0	0	1	0	0	0	5795	1000	35	2	566	2	FCN3	1	27699671	Missense_Mutation	SNP	G	TCGA-BP-4799-01A-01D-1373-10		27699671	221550950	1	20637											
EPHX4	253152	hgsc.bcm.edu	37	1	92518079	92518079	+	Silent	SNP	C	C	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr1:92518079C>T	ENST00000370383.4	+	6	819	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	241						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTTGAAACATCTGTTTACCAG	0.348																																					GBM(140;473 1857 5172 22066 49719)											0													58	55	56					1																	92518079		2203	4300	6503	SO:0001819	synonymous_variant	253152			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"Abhydrolase domain containing"	23758	protein-coding gene	gene with protein product			"abhydrolase domain containing 7"	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.721C>T	1.37:g.92518079C>T			Q8NCC6	Silent	SNP	ENST00000370383.4	37	CCDS736.1																																																																																				0.348	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		T	92518079	C	T	92518079	2	4	370	1	0	0	0	0	0	0	0	1	5184	912	32	2		2	EPHX4	1	92518079	Silent	SNP	C	TCGA-BP-4799-01A-01D-1373-10	64818408	92518079	156732542	2	20638											
AGL	178	hgsc.bcm.edu;ucsc.edu	37	1	100349949	100349949	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr1:100349949G>T	ENST00000294724.4	+	19	2966	c.2488G>T	c.(2488-2490)Gaa>Taa	p.E830*	AGL_ENST00000370165.3_Nonsense_Mutation_p.E830*|AGL_ENST00000361522.4_Nonsense_Mutation_p.E813*|AGL_ENST00000370161.2_Nonsense_Mutation_p.E814*|AGL_ENST00000361302.3_Nonsense_Mutation_p.E814*|AGL_ENST00000370163.3_Nonsense_Mutation_p.E830*|AGL_ENST00000361915.3_Nonsense_Mutation_p.E830*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	830					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGGGCCCAATGAATATATTCA	0.284																																																0													45	49	48					1																	100349949		2196	4283	6479	SO:0001587	stop_gained	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2488G>T	1.37:g.100349949G>T	ENSP00000294724:p.Glu830*		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Nonsense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	42	9.592340	0.99214	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.0425	0.97596	0.0:0.0:1.0:0.0	.	.	.	.	X	830;830;830;830;814;814;813	.	ENSP00000294724:E830X	E	+	1	0	AGL	100122537	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.405000	0.97313	2.745000	0.94114	0.650000	0.86243	GAA		0.284	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		T	100349949	G	T	100349949	4	4	370	1	0	0	0	0	0	1	0	0	384	1291	45	4	2627	4	AGL	1	100349949	Nonsense_Mutation	SNP	G	TCGA-BP-4799-01A-01D-1373-10	7831870	100349949	148900672	3	20639											
CNGA3	1261	hgsc.bcm.edu	37	2	98994251	98994251	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr2:98994251A>C	ENST00000272602.2	+	2	242	c.203A>C	c.(202-204)cAg>cCg	p.Q68P	CNGA3_ENST00000436404.2_Missense_Mutation_p.Q68P|CNGA3_ENST00000393504.1_Missense_Mutation_p.Q68P|CNGA3_ENST00000409937.1_Missense_Mutation_p.Q17P			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	68					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTCACCGGCCAGGGGATCGCC	0.602																																																0													25	23	24					2																	98994251		2203	4300	6503	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.203A>C	2.37:g.98994251A>C	ENSP00000272602:p.Gln68Pro		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.919845	0.33908	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	T;T;T;D	0.98876	0.81;0.81;0.81;-5.2	5.01	-5.57	0.02521	.	10.923100	0.00357	N	0.000029	D	0.96253	0.8778	L	0.60455	1.87	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	D	0.89202	0.3558	10	0.31617	T	0.26	.	2.6542	0.05008	0.2413:0.4189:0.2253:0.1145	.	17;68;68	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	P	68;68;68;17	ENSP00000377140:Q68P;ENSP00000410070:Q68P;ENSP00000272602:Q68P;ENSP00000386761:Q17P	ENSP00000272602:Q68P	Q	+	2	0	CNGA3	98360683	0.026000	0.19158	0.000000	0.03702	0.014000	0.08584	-0.337000	0.07852	-0.992000	0.03472	0.533000	0.62120	CAG		0.602	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		C	98994251	A	C	98994251	3	2	370	1	0	0	0	0	1	0	0	0	3600	188	7	5	209	5	CNGA3	2	98994251	Missense_Mutation	SNP	A	TCGA-BP-4799-01A-01D-1373-10		98994251	144205122	4	20640											
HDAC4	9759	hgsc.bcm.edu	37	2	240011717	240011717	+	Silent	SNP	T	T	C	rs61752234	byFrequency	TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr2:240011717T>C	ENST00000345617.3	-	18	3152	c.2361A>G	c.(2359-2361)acA>acG	p.T787T	HDAC4_ENST00000543185.1_Silent_p.T371T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	787	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCAGCTCCCCTGTGGCCACCT	0.667													C|||	169	0.033746	0.0015	0.1066	5008	,	,		15025	0.0367		0.0427	False		,,,				2504	0.0133															0								C		46,4360	820.8+/-416.4	1,44,2158	74	73	73		2361	-8	0.3	2	dbSNP_129	73	379,8221	801.6+/-407.4	10,359,3931	no	coding-synonymous	HDAC4	NM_006037.3		11,403,6089	CC,CT,TT		4.407,1.044,3.2677		787/1085	240011717	425,12581	2203	4300	6503	SO:0001819	synonymous_variant	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2361A>G	2.37:g.240011717T>C			Q9UND6	Silent	SNP	ENST00000345617.3	37	CCDS2529.1																																																																																				0.667	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		C	240011717	T	C	240011717	2	2	370	1	0	0	0	0	0	0	0	1	7011	1567	55	3		3	HDAC4	2	240011717	Silent	SNP	T	TCGA-BP-4799-01A-01D-1373-10	141017466	240011717	3187656	5	20641											
SHISA5	51246	hgsc.bcm.edu;ucsc.edu	37	3	48538657	48538657	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr3:48538657C>G	ENST00000296444.2	-	2	482	c.146G>C	c.(145-147)tGt>tCt	p.C49S	SHISA5_ENST00000443308.2_Missense_Mutation_p.C49S|SHISA5_ENST00000442747.1_Missense_Mutation_p.C18S|SHISA5_ENST00000444115.1_Missense_Mutation_p.C18S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	49					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						ACAGGTACCACAGCAGAAATC	0.552																																																0													174	133	147					3																	48538657		2203	4300	6503	SO:0001583	missense	51246			AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"Shisa homologs"	30376	protein-coding gene	gene with protein product		607290	"shisa homolog 5 (Xenopus laevis)"			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.146G>C	3.37:g.48538657C>G	ENSP00000296444:p.Cys49Ser		B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Missense_Mutation	SNP	ENST00000296444.2	37	CCDS2770.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228036	0.79576	.	.	ENSG00000164054	ENST00000296444;ENST00000444115;ENST00000442747;ENST00000443308;ENST00000417841	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.90027	0.6886	M	0.79123	2.44	0.43399	D	0.995529	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.90924	0.4785	10	0.87932	D	0	0.4461	12.7168	0.57119	0.0:1.0:0.0:0.0	.	49;49	F8W9N8;Q8N114	.;SHSA5_HUMAN	S	49;18;18;49;18	ENSP00000296444:C49S;ENSP00000407957:C18S;ENSP00000408223:C18S;ENSP00000395373:C49S;ENSP00000412509:C18S	ENSP00000296444:C49S	C	-	2	0	SHISA5	48513661	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.119000	0.50422	2.467000	0.83353	0.650000	0.86243	TGT		0.552	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3	NM_016479		G	48538657	C	G	48538657	3	3	370	1	0	0	0	0	1	0	0	0	14289	478	17	4	596	4	SHISA5	3	48538657	Missense_Mutation	SNP	C	TCGA-BP-4799-01A-01D-1373-10		48538657	149483773	6	20642											
PRDM9	56979	hgsc.bcm.edu;ucsc.edu	37	5	23526898	23526898	+	Silent	SNP	C	C	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr5:23526898C>T	ENST00000296682.3	+	11	1883	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	567					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTCACACCTCCTCATTCACC	0.542										HNSCC(3;0.000094)																																						0													75	83	80					5																	23526898		2183	4298	6481	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1701C>T	5.37:g.23526898C>T			B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																				0.542	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		T	23526898	C	T	23526898	2	4	370	1	0	0	0	0	0	0	0	1	12468	842	30	2		2	PRDM9	5	23526898	Silent	SNP	C	TCGA-BP-4799-01A-01D-1373-10		23526898	157388362	7	20643											
BRD8	10902	hgsc.bcm.edu;ucsc.edu	37	5	137498825	137498825	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr5:137498825G>A	ENST00000254900.5	-	15	2452	c.2081C>T	c.(2080-2082)tCa>tTa	p.S694L	BRD8_ENST00000402931.1_Missense_Mutation_p.S694L|BRD8_ENST00000515014.1_Intron|BRD8_ENST00000411594.2_Missense_Mutation_p.S697L|BRD8_ENST00000230901.5_Missense_Mutation_p.S767L|BRD8_ENST00000455658.2_Missense_Mutation_p.S653L	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	694					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCACAACTGTGAAGAAGCAGG	0.493																																																0													147	127	134					5																	137498825		2203	4300	6503	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2081C>T	5.37:g.137498825G>A	ENSP00000254900:p.Ser694Leu		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.282355|5.282355	0.95489|0.95489	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000441656|ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898	.|T;T;T;T;T;T;T	.|0.37058	.|1.65;1.23;1.23;1.37;1.34;1.22;1.34	5.39|5.39	5.39|5.39	0.77823|0.77823	.|Bromodomain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51500|0.51500	0.1678|0.1678	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P;D;D	.|0.89917	.|0.997;0.974;0.997;0.995;0.999;0.947;1.0;0.999	.|D;P;P;D;D;P;D;D	.|0.85130	.|0.951;0.782;0.886;0.972;0.961;0.675;0.997;0.991	T|T	0.50988|0.50988	-0.8762|-0.8762	5|10	.|0.66056	.|D	.|0.02	-3.0372|-3.0372	18.3245|18.3245	0.90248|0.90248	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|653;678;473;767;697;588;767;694	.|F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.|.;.;.;.;.;.;.;BRD8_HUMAN	Y|L	688|694;723;692;767;694;697;588;653;162	.|ENSP00000254900:S694L;ENSP00000398067:S723L;ENSP00000398873:S692L;ENSP00000230901:S767L;ENSP00000384845:S694L;ENSP00000394330:S697L;ENSP00000408396:S653L	.|ENSP00000230901:S767L	H|S	-|-	1|2	0|0	BRD8|BRD8	137526724|137526724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.156000|9.156000	0.94705|0.94705	2.808000|2.808000	0.96608|0.96608	0.561000|0.561000	0.74099|0.74099	CAC|TCA		0.493	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		A	137498825	G	A	137498825	3	1	370	1	0	0	0	0	1	0	0	0	1508	1294	45	2	1742	2	BRD8	5	137498825	Missense_Mutation	SNP	G	TCGA-BP-4799-01A-01D-1373-10	113971927	137498825	43416435	8	20644											
EYA4	2070	hgsc.bcm.edu;ucsc.edu	37	6	133804175	133804175	+	Silent	SNP	G	G	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr6:133804175G>A	ENST00000367895.5	+	13	1577	c.1113G>A	c.(1111-1113)gtG>gtA	p.V371V	EYA4_ENST00000355286.6_Silent_p.V348V|EYA4_ENST00000525849.1_Silent_p.V348V|EYA4_ENST00000531901.1_Silent_p.V377V|EYA4_ENST00000431403.2_Silent_p.V371V|EYA4_ENST00000430974.2_Silent_p.V323V|EYA4_ENST00000452339.2_Silent_p.V317V|EYA4_ENST00000355167.3_Silent_p.V371V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	371					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTCAGCGTGTGTTTGTCTGGG	0.368																																					Melanoma(57;398 1237 3528 4702 7415)											0													125	120	122					6																	133804175		2203	4300	6503	SO:0001819	synonymous_variant	2070			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1113G>A	6.37:g.133804175G>A			B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	CCDS5165.1																																																																																				0.368	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		A	133804175	G	A	133804175	2	1	370	1	0	0	0	0	0	0	0	1	5333	1364	48	2		2	EYA4	6	133804175	Silent	SNP	G	TCGA-BP-4799-01A-01D-1373-10		133804175	37310892	9	20645											
MOBKL2B	79817	hgsc.bcm.edu;ucsc.edu	37	9	27359175	27359175	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr9:27359175G>A	ENST00000262244.5	-	3	902	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	MOB3B_ENST00000603061.1_5'UTR	NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	160							metal ion binding (GO:0046872)										ACAAAGACCCGGAAAAGGCGG	0.463																																																0													162	170	168					9																	27359175		2203	4300	6503	SO:0001583	missense	0			AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"MOB kinase activators"	23825	protein-coding gene	gene with protein product	"monopolar spindle 1 binding, MOB1, domain containing"		"MOB1, Mps One Binder kinase activator-like 2B (yeast)", "chromosome 9 open reading frame 35"	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.478C>T	9.37:g.27359175G>A	ENSP00000262244:p.Arg160Trp		Q8NEB4|Q9H8V4	Missense_Mutation	SNP	ENST00000262244.5	37	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460748	0.84317	.	.	ENSG00000120162	ENST00000262244	.	.	.	5.22	5.22	0.72569	.	0.116572	0.38663	N	0.001618	D	0.87807	0.6270	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91715	0.5384	9	0.87932	D	0	-13.7442	17.3419	0.87299	0.0:0.0:1.0:0.0	.	160	Q86TA1	MOB3B_HUMAN	W	160	.	ENSP00000262244:R160W	R	-	1	2	MOBKL2B	27349175	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	3.829000	0.55760	2.437000	0.82529	0.313000	0.20887	CGG		0.463	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		A	27359175	G	A	27359175	3	1	370	1	0	0	0	0	1	0	0	0	9687	1115	39	1	180	1	MOBKL2B	9	27359175	Missense_Mutation	SNP	G	TCGA-BP-4799-01A-01D-1373-10		27359175	113854256	10	20646											
WEE1	7465	hgsc.bcm.edu	37	11	9608378	9608378	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr11:9608378A>C	ENST00000450114.2	+	10	2015	c.1762A>C	c.(1762-1764)Aag>Cag	p.K588Q	WEE1_ENST00000299613.6_Missense_Mutation_p.K374Q	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	588					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|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)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAATGCCGAAAAGTTCAAAAA	0.328																																																0													40	42	41					11																	9608378		2201	4294	6495	SO:0001583	missense	7465			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1762A>C	11.37:g.9608378A>C	ENSP00000402084:p.Lys588Gln		B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633432	0.87660	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000530712;ENST00000527848	T;T;T;T	0.60299	0.57;0.5;1.68;0.2	5.84	5.84	0.93424	Protein kinase-like domain (1);	0.103697	0.64402	D	0.000005	T	0.76673	0.4020	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.79676	-0.1704	10	0.72032	D	0.01	-18.3002	16.2055	0.82126	1.0:0.0:0.0:0.0	.	588	P30291	WEE1_HUMAN	Q	588;374;194;40	ENSP00000402084:K588Q;ENSP00000299613:K374Q;ENSP00000434148:K194Q;ENSP00000432284:K40Q	ENSP00000299613:K374Q	K	+	1	0	WEE1	9564954	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.517000	0.90555	2.226000	0.72624	0.482000	0.46254	AAG		0.328	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		C	9608378	A	C	9608378	3	2	370	1	0	0	0	0	1	0	0	0	17349	15	1	5	1800	5	WEE1	11	9608378	Missense_Mutation	SNP	A	TCGA-BP-4799-01A-01D-1373-10		9608378	125398138	11	20647											
DDX11	1663	hgsc.bcm.edu	37	12	31253615	31253616	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr12:31253615_31253616insTG	ENST00000407793.2	+	19	2173_2174	c.1922_1923insTG	c.(1921-1926)gctgagfs	p.E642fs	DDX11_ENST00000545668.1_Frame_Shift_Ins_p.E642fs|DDX11_ENST00000228264.6_Frame_Shift_Ins_p.E616fs|DDX11_ENST00000350437.4_Frame_Shift_Ins_p.E642fs|DDX11_ENST00000542838.1_Frame_Shift_Ins_p.E642fs|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	642					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGGGTGGAAGCTGAGCGCGTGG	0.629										Multiple Myeloma(12;0.14)																																						0																																										SO:0001589	frameshift_variant	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1923_1924dupTG	12.37:g.31253616_31253617dupTG	ENSP00000384703:p.Glu642fs		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Frame_Shift_Ins	INS	ENST00000407793.2	37	CCDS44856.1																																																																																				0.629	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		TG	31253616	-	TG	31253615	7	5	370	1	0	1	1	0	0	0	0	0	4345	797	28	0	1992	0	DDX11	12	31253615	Frame_Shift_Ins	INS	-	TCGA-BP-4799-01A-01D-1373-10		31253615	102598280	12	20648											
AMN	81693	hgsc.bcm.edu	37	14	103390308	103390308	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr14:103390308T>A	ENST00000299155.5	+	3	232	c.199T>A	c.(199-201)Tca>Aca	p.S67T		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	67					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACGCCGTCTCAGACATGGT	0.647																																																0													95	90	92					14																	103390308		2203	4300	6503	SO:0001583	missense	81693			AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.199T>A	14.37:g.103390308T>A	ENSP00000299155:p.Ser67Thr		Q6UX83	Missense_Mutation	SNP	ENST00000299155.5	37	CCDS9977.1	.	.	.	.	.	.	.	.	.	.	T	3.870	-0.028067	0.07589	.	.	ENSG00000166126	ENST00000299155;ENST00000541086	D	0.88818	-2.43	3.14	1.89	0.25635	.	0.777114	0.11425	U	0.565427	T	0.78381	0.4274	L	0.43923	1.385	0.09310	N	1	P	0.42518	0.782	B	0.34722	0.188	T	0.66156	-0.5994	10	0.06236	T	0.91	.	6.4487	0.21892	0.0:0.0:0.2514:0.7486	.	67	Q9BXJ7	AMNLS_HUMAN	T	67;13	ENSP00000299155:S67T	ENSP00000299155:S67T	S	+	1	0	AMN	102460061	0.000000	0.05858	0.053000	0.19242	0.122000	0.20287	-0.026000	0.12392	0.331000	0.23511	0.260000	0.18958	TCA		0.647	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			A	103390308	T	A	103390308	3	1	370	1	0	0	0	0	1	0	0	0	580	1551	54	5	209	5	AMN	14	103390308	Missense_Mutation	SNP	T	TCGA-BP-4799-01A-01D-1373-10		103390308	3959232	13	20649											
IFT140	9742	hgsc.bcm.edu	37	16	1614096	1614096	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr16:1614096C>T	ENST00000426508.2	-	17	2332	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	657					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGCCGGGGCTCACTCTGGTCC	0.587																																																0													53	62	59					16																	1614096		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1969G>A	16.37:g.1614096C>T	ENSP00000406012:p.Glu657Lys		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988241	0.74589	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	D	0.83506	-1.73	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.91740	0.7388	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.972;0.983	D	0.92710	0.6182	10	0.66056	D	0.02	.	18.6071	0.91271	0.0:1.0:0.0:0.0	.	657;382	Q96RY7;B4DR58	IF140_HUMAN;.	K	657	ENSP00000406012:E657K	ENSP00000380562:E657K	E	-	1	0	IFT140	1554097	1.000000	0.71417	0.852000	0.33557	0.011000	0.07611	7.044000	0.76578	2.407000	0.81776	0.467000	0.42956	GAG		0.587	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		T	1614096	C	T	1614096	3	4	370	1	0	0	0	0	1	0	0	0	7558	835	29	2	2479	2	IFT140	16	1614096	Missense_Mutation	SNP	C	TCGA-BP-4799-01A-01D-1373-10		1614096	88740657	14	20650											
CNGB1	1258	hgsc.bcm.edu	37	16	57951275	57951275	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr16:57951275A>T	ENST00000251102.8	-	21	2123	c.2063T>A	c.(2062-2064)aTc>aAc	p.I688N	CNGB1_ENST00000564448.1_Missense_Mutation_p.I682N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	688					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCAGTGGTGGATGTTGTCCGG	0.557																																					Colon(156;1293 1853 16336 28962 38659)											0													100	106	104					16																	57951275		2090	4218	6308	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2063T>A	16.37:g.57951275A>T	ENSP00000251102:p.Ile688Asn		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742766	0.49151	.	.	ENSG00000070729	ENST00000251102	T	0.11385	2.78	5.25	5.25	0.73442	.	0.204955	0.39909	N	0.001231	T	0.14270	0.0345	L	0.58354	1.805	0.80722	D	1	B;B	0.26445	0.03;0.149	B;B	0.24394	0.036;0.053	T	0.01702	-1.1292	10	0.59425	D	0.04	.	14.7796	0.69756	1.0:0.0:0.0:0.0	.	60;688	Q14028-2;Q14028	.;CNGB1_HUMAN	N	688	ENSP00000251102:I688N	ENSP00000251102:I688N	I	-	2	0	CNGB1	56508776	1.000000	0.71417	0.996000	0.52242	0.438000	0.31896	9.087000	0.94110	2.333000	0.79357	0.533000	0.62120	ATC		0.557	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		T	57951275	A	T	57951275	3	4	370	1	0	0	0	0	1	0	0	0	3602	333	12	5	1744	5	CNGB1	16	57951275	Missense_Mutation	SNP	A	TCGA-BP-4799-01A-01D-1373-10	56337179	57951275	32403478	15	20651											
TRIM37	4591	hgsc.bcm.edu	37	17	57181741	57181741	+	Silent	SNP	A	A	G			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr17:57181741A>G	ENST00000262294.7	-	2	295	c.36T>C	c.(34-36)gtT>gtC	p.V12V	TRIM37_ENST00000393066.3_Silent_p.V12V|TRIM37_ENST00000393065.2_Intron|AC099850.1_ENST00000451775.1_RNA|TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000584889.1_Silent_p.V12V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	12					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AACATCGGAAAACCTCAGCAA	0.403									Mulibrey Nanism																																							0													91	81	84					17																	57181741		2203	4300	6503	SO:0001819	synonymous_variant	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.36T>C	17.37:g.57181741A>G			Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	CCDS32694.1																																																																																				0.403	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		G	57181741	A	G	57181741	2	3	370	1	0	0	0	0	0	0	0	1	16516	1	1	3		3	TRIM37	17	57181741	Silent	SNP	A	TCGA-BP-4799-01A-01D-1373-10		57181741	24013469	16	20652											
SCN4A	6329	hgsc.bcm.edu	37	17	62024487	62024487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr17:62024487G>T	ENST00000435607.1	-	18	3435	c.3359C>A	c.(3358-3360)tCg>tAg	p.S1120*	SCN4A_ENST00000578147.1_Nonsense_Mutation_p.S1120*	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1120					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCCAGCTCCGAGTAGCCCAG	0.667											OREG0024655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001587	stop_gained	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3359C>A	17.37:g.62024487G>T	ENSP00000396320:p.Ser1120*	1058	Q15478|Q16447|Q7Z6B1	Nonsense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	41	9.035359	0.99044	.	.	ENSG00000007314	ENST00000435607	.	.	.	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3969	0.74801	0.0:0.0:1.0:0.0	.	.	.	.	X	1120	.	ENSP00000396320:S1120X	S	-	2	0	SCN4A	59378219	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.607000	0.82883	2.291000	0.77112	0.491000	0.48974	TCG		0.667	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		T	62024487	G	T	62024487	4	4	370	1	0	0	0	0	0	1	0	0	13926	1059	37	4	2179	4	SCN4A	17	62024487	Nonsense_Mutation	SNP	G	TCGA-BP-4799-01A-01D-1373-10	4842746	62024487	19170723	17	20653											
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9047853	9047853	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr19:9047853G>C	ENST00000397910.4	-	5	33981	c.33778C>G	c.(33778-33780)Ccg>Gcg	p.P11260A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11262	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGTAAACGGCTCACCAGTG	0.483																																																0													67	60	62					19																	9047853		1940	4145	6085	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33778C>G	19.37:g.9047853G>C	ENSP00000381008:p.Pro11260Ala		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.164	0.215872	0.09810	.	.	ENSG00000181143	ENST00000397910	T	0.03094	4.05	2.78	1.74	0.24563	.	.	.	.	.	T	0.04634	0.0126	L	0.34521	1.04	.	.	.	P	0.44659	0.84	P	0.46850	0.529	T	0.26985	-1.0087	8	0.87932	D	0	.	5.5181	0.16918	0.1586:0.0:0.8414:0.0	.	11260	B5ME49	.	A	11260	ENSP00000381008:P11260A	ENSP00000381008:P11260A	P	-	1	0	MUC16	8908853	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.238000	0.08977	0.714000	0.32081	0.556000	0.70494	CCG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9047853	G	C	9047853	3	2	370	1	0	0	0	0	1	0	0	0	9975	1203	42	4	10065	4	MUC16	19	9047853	Missense_Mutation	SNP	G	TCGA-BP-4799-01A-01D-1373-10		9047853	50081130	18	20654											
MEIS3	56917	hgsc.bcm.edu	37	19	47912501	47912501	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr19:47912501T>A	ENST00000558555.1	-	8	900	c.713A>T	c.(712-714)gAc>gTc	p.D238V	MEIS3_ENST00000561293.1_Missense_Mutation_p.D238V|MEIS3_ENST00000331559.5_Missense_Mutation_p.D221V|MEIS3_ENST00000441740.2_Missense_Mutation_p.D221V|MEIS3_ENST00000559524.1_Missense_Mutation_p.D238V|MEIS3_ENST00000561096.1_Missense_Mutation_p.D326V|MEIS3_ENST00000560253.1_5'UTR			Q99687	MEIS3_HUMAN	Meis homeobox 3	238	Ser/Thr-rich.			D -> V (in Ref. 5). {ECO:0000305}.	negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTCCAGCCCGTCTCCTGAGGG	0.607																																																0													36	28	31					19																	47912501		2203	4299	6502	SO:0001583	missense	56917			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"Homeoboxes / TALE class"	29537	protein-coding gene	gene with protein product			"Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.713A>T	19.37:g.47912501T>A	ENSP00000454073:p.Asp238Val		A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37		.	.	.	.	.	.	.	.	.	.	T	12.47	1.946228	0.34377	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	D;D	0.88277	-2.36;-2.32	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	.	.	.	0.80722	D	1	B;D;B;D	0.89917	0.001;1.0;0.011;1.0	B;D;B;D	0.87578	0.008;0.998;0.015;0.997	D	0.92534	0.6036	9	0.40728	T	0.16	-18.3864	12.0739	0.53632	0.0:0.0:0.0:1.0	.	238;221;238;113	Q99687;Q99687-3;Q99687-2;Q59FK5	MEIS3_HUMAN;.;.;.	V	238;221	ENSP00000333552:D238V;ENSP00000388667:D221V	ENSP00000333552:D238V	D	-	2	0	MEIS3	52604313	1.000000	0.71417	0.983000	0.44433	0.480000	0.33159	7.501000	0.81600	2.008000	0.58898	0.533000	0.62120	GAC		0.607	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		A	47912501	T	A	47912501	3	1	370	1	0	0	0	0	1	0	0	0	9471	1667	58	5	572	5	MEIS3	19	47912501	Missense_Mutation	SNP	T	TCGA-BP-4799-01A-01D-1373-10	38864648	47912501	11216482	19	20655											
GATA5	140628	hgsc.bcm.edu	37	20	61040459	61040459	+	Silent	SNP	G	G	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr20:61040459G>A	ENST00000252997.2	-	6	1036	c.975C>T	c.(973-975)gcC>gcT	p.A325A		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	325					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CTTTCGAAGTGGCTGCTGAGC	0.662																																																0													30	30	30					20																	61040459		2201	4294	6495	SO:0001819	synonymous_variant	140628			BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"GATA zinc finger domain containing"	15802	protein-coding gene	gene with protein product		611496	"GATA-binding protein 5"			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.975C>T	20.37:g.61040459G>A			D9ZGF7|Q17RE2|Q86VU4	Silent	SNP	ENST00000252997.2	37	CCDS13499.1																																																																																				0.662	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		A	61040459	G	A	61040459	2	1	370	1	0	0	0	0	0	0	0	1	6259	1335	47	2		2	GATA5	20	61040459	Silent	SNP	G	TCGA-BP-4799-01A-01D-1373-10		61040459	1985061	20	20656											
TRPM2	7226	hgsc.bcm.edu	37	21	45798894	45798894	+	Silent	SNP	C	C	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr21:45798894C>A	ENST00000397928.1	+	8	1474	c.1029C>A	c.(1027-1029)gcC>gcA	p.A343A	TRPM2_ENST00000300482.5_Silent_p.A343A|TRPM2_ENST00000300481.9_Silent_p.A343A|TRPM2_ENST00000397932.2_Silent_p.A343A|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	343					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCGACAACGCCACCACCAACG	0.627																																																0													66	60	62					21																	45798894		2203	4300	6503	SO:0001819	synonymous_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1029C>A	21.37:g.45798894C>A			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																				0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45798894	C	A	45798894	2	1	370	1	0	0	0	0	0	0	0	1	16591	581	21	4		4	TRPM2	21	45798894	Silent	SNP	C	TCGA-BP-4799-01A-01D-1373-10		45798894	2331001	21	20657											
USP9Y	8287	hgsc.bcm.edu;ucsc.edu	37	Y	14952324	14952324	+	Missense_Mutation	SNP	A	A	G	rs199530143		TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chrY:14952324A>G	ENST00000338981.3	+	36	6817	c.5872A>G	c.(5872-5874)Atg>Gtg	p.M1958V	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1958	USP.				BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTATGAACAAATGGATATGAT	0.388																																																0													114	101	104					Y																	14952324		614	1964	2578	SO:0001583	missense	8287			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"Ubiquitin-specific peptidases"	12633	protein-coding gene	gene with protein product	"fat facets-like homolog (Drosophila)"	400005	"ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.5872A>G	Y.37:g.14952324A>G	ENSP00000342812:p.Met1958Val		O14601	Missense_Mutation	SNP	ENST00000338981.3	37	CCDS14781.1																																																																																				0.388	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		G	14952324	A	G	14952324	3	3	370	1	0	0	0	0	1	0	0	0	17096	101	4	3	6006	3	USP9Y	24	14952324	Missense_Mutation	SNP	A	TCGA-BP-4799-01A-01D-1373-10		14952324	44421242	22	20658											
STIL	6491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	47725984	47725984	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr1:47725984A>C	ENST00000360380.3	-	17	3417	c.3054T>G	c.(3052-3054)aaT>aaG	p.N1018K	STIL_ENST00000243182.6_Missense_Mutation_p.N1018K|STIL_ENST00000396221.2_Missense_Mutation_p.N1001K|STIL_ENST00000337817.5_Missense_Mutation_p.N1018K|STIL_ENST00000371877.3_Missense_Mutation_p.N1019K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1018					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.N1018K(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CGTTATGTGCATTTTTCTTCA	0.299																																																1	Substitution - Missense(1)	kidney(1)											111	108	109					1																	47725984		2203	4299	6502	SO:0001583	missense	6491			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3054T>G	1.37:g.47725984A>C	ENSP00000353544:p.Asn1018Lys		Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.754905	0.31046	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.93	3.63	0.41609	.	0.334264	0.38959	N	0.001515	T	0.14657	0.0354	L	0.47716	1.5	0.30353	N	0.784595	P;P;P;P	0.45902	0.868;0.868;0.868;0.868	B;B;B;B	0.44044	0.439;0.439;0.439;0.439	T	0.06180	-1.0841	10	0.22706	T	0.39	-12.3643	5.3457	0.16008	0.6496:0.1413:0.209:0.0	.	1001;1001;1019;1018	E9PSF2;B7ZLW5;Q15468-2;Q15468	.;.;.;STIL_HUMAN	K	1018;1018;1019;1001;1018	ENSP00000353544:N1018K;ENSP00000337367:N1018K;ENSP00000360944:N1019K;ENSP00000379523:N1001K;ENSP00000243182:N1018K	ENSP00000243182:N1018K	N	-	3	2	STIL	47498571	0.125000	0.22332	1.000000	0.80357	0.940000	0.58332	0.138000	0.16016	1.053000	0.40415	0.533000	0.62120	AAT		0.299	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		C	47725984	A	C	47725984	3	2	371	1	0	0	0	0	1	0	0	0	15287	214	8	5	817	5	STIL	1	47725984	Missense_Mutation	SNP	A	TCGA-BP-4801-01A-02D-1421-08		47725984	201524637	1	20659											
LRRC42	115353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54433413	54433413	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr1:54433413T>A	ENST00000371370.3	+	9	1609	c.1088T>A	c.(1087-1089)cTc>cAc	p.L363H	LRRC42_ENST00000319223.4_Missense_Mutation_p.L363H	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	363								p.L363H(1)		breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TCCGAGAAACTCCAGTTCTAT	0.507																																																1	Substitution - Missense(1)	kidney(1)											55	55	55					1																	54433413		2203	4300	6503	SO:0001583	missense	115353			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.1088T>A	1.37:g.54433413T>A	ENSP00000360421:p.Leu363His		D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	CCDS585.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396658	0.83011	.	.	ENSG00000116212	ENST00000371370;ENST00000319223	.	.	.	5.74	5.74	0.90152	.	0.063495	0.64402	D	0.000007	T	0.66944	0.2841	L	0.29908	0.895	0.54753	D	0.999984	D	0.76494	0.999	D	0.85130	0.997	T	0.70802	-0.4773	9	0.87932	D	0	-13.1267	16.0351	0.80621	0.0:0.0:0.0:1.0	.	363	Q9Y546	LRC42_HUMAN	H	363	.	ENSP00000318185:L363H	L	+	2	0	LRRC42	54206001	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.505000	0.66981	2.186000	0.69663	0.533000	0.62120	CTC		0.507	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		A	54433413	T	A	54433413	3	1	371	1	0	0	0	0	1	0	0	0	9002	1551	54	5	1114	5	LRRC42	1	54433413	Missense_Mutation	SNP	T	TCGA-BP-4801-01A-02D-1421-08	6707429	54433413	194817208	2	20660											
ATP8B2	57198	hgsc.bcm.edu	37	1	154316516	154316516	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr1:154316516G>A	ENST00000368489.3	+	18	2005	c.2005G>A	c.(2005-2007)Gtt>Att	p.V669I		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	655					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTATGAGGAGGTTGAGAACAA	0.592																																																0													46	49	48					1																	154316516		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2005G>A	1.37:g.154316516G>A	ENSP00000357475:p.Val669Ile		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.459915	0.01062	.	.	ENSG00000143515	ENST00000368489	T	0.57752	0.38	5.5	1.65	0.23941	.	0.133352	0.50627	D	0.000116	T	0.03477	0.0100	N	0.00162	-1.95	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47381	-0.9122	10	0.02654	T	1	.	8.3951	0.32553	0.3763:0.0:0.6237:0.0	.	669	P98198-3	.	I	669	ENSP00000357475:V669I	ENSP00000357475:V669I	V	+	1	0	ATP8B2	152583140	1.000000	0.71417	0.633000	0.29310	0.008000	0.06430	1.881000	0.39638	0.159000	0.19401	-0.157000	0.13467	GTT		0.592	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		A	154316516	G	A	154316516	3	1	371	1	0	0	0	0	1	0	0	0	1195	1261	44	2	2205	2	ATP8B2	1	154316516	Missense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08	99883103	154316516	94934105	3	20661											
FAM5C	339479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	190067930	190067930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr1:190067930G>A	ENST00000367462.3	-	8	1750	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	BRINP3_ENST00000534846.1_Nonsense_Mutation_p.R405*	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	507					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R507*(3)									ACTTCTATTCGTCTGTCCGTT	0.483																																																3	Substitution - Nonsense(3)	large_intestine(1)|kidney(1)|endometrium(1)											159	152	154					1																	190067930		2203	4300	6503	SO:0001587	stop_gained	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1519C>T	1.37:g.190067930G>A	ENSP00000356432:p.Arg507*		B3KVP1|B7Z260|O95726|Q2M330	Nonsense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028520	0.93518	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.75	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6238	0.45495	0.0:0.0:0.6879:0.3121	.	.	.	.	X	507;405	.	ENSP00000356432:R507X	R	-	1	2	FAM5C	188334553	0.819000	0.29175	0.368000	0.25939	0.962000	0.63368	1.147000	0.31602	2.712000	0.92718	0.591000	0.81541	CGA		0.483	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		A	190067930	G	A	190067930	4	1	371	1	0	0	0	0	0	1	0	0	5596	1153	40	1	785	1	FAM5C	1	190067930	Nonsense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08	35751414	190067930	59182691	4	20662											
RGS18	64407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	192150572	192150572	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr1:192150572C>G	ENST00000367460.3	+	4	615	c.434C>G	c.(433-435)aCt>aGt	p.T145S		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	145	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.T145S(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTATACAGACTGATGCCCCA	0.264																																																1	Substitution - Missense(1)	kidney(1)											45	47	46					1																	192150572		2201	4289	6490	SO:0001583	missense	64407			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.434C>G	1.37:g.192150572C>G	ENSP00000356430:p.Thr145Ser		B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	C	0.051	-1.249572	0.01469	.	.	ENSG00000150681	ENST00000367460	T	0.01804	4.63	5.34	-3.09	0.05331	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.630657	0.16815	N	0.198398	T	0.00695	0.0023	N	0.04805	-0.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43909	-0.9362	10	0.07813	T	0.8	.	2.183	0.03879	0.2984:0.3736:0.2142:0.1138	.	145	Q9NS28	RGS18_HUMAN	S	145	ENSP00000356430:T145S	ENSP00000356430:T145S	T	+	2	0	RGS18	190417195	0.000000	0.05858	0.267000	0.24556	0.172000	0.22775	-0.594000	0.05733	-0.905000	0.03871	-0.535000	0.04281	ACT		0.264	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		G	192150572	C	G	192150572	3	3	371	1	0	0	0	0	1	0	0	0	13306	565	20	4	448	4	RGS18	1	192150572	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08	2082642	192150572	57100049	5	20663											
GEN1	348654	hgsc.bcm.edu	37	2	17946312	17946312	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr2:17946312delT	ENST00000381254.2	+	4	711	c.497delT	c.(496-498)gttfs	p.V166fs	GEN1_ENST00000317402.7_Frame_Shift_Del_p.V166fs|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	166	I-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCCAGACTGTTTACAGGAAT	0.398								Homologous recombination																																								0													136	133	134					2																	17946312		2203	4300	6503	SO:0001589	frameshift_variant	348654			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.497delT	2.37:g.17946312delT	ENSP00000370653:p.Val166fs		Q17RS9|Q6ZN37	Frame_Shift_Del	DEL	ENST00000381254.2	37	CCDS1691.1																																																																																				0.398	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		-	17946312	T	-	17946312	7	5	371	1	0	1	0	1	0	0	0	0	6337	1725	60	0	507	0	GEN1	2	17946312	Frame_Shift_Del	DEL	T	TCGA-BP-4801-01A-02D-1421-08		17946312	225253061	6	20664											
PTPN4	5775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	120720267	120720267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr2:120720267G>T	ENST00000263708.2	+	24	3127	c.2356G>T	c.(2356-2358)Gaa>Taa	p.E786*	PTPN4_ENST00000544261.1_Nonsense_Mutation_p.E419*	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	786	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.E786*(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CTGCCACTCTGAAGAAGGAAA	0.388																																																1	Substitution - Nonsense(1)	kidney(1)											76	70	72					2																	120720267		2203	4300	6503	SO:0001587	stop_gained	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2356G>T	2.37:g.120720267G>T	ENSP00000263708:p.Glu786*		B2RBV8|Q9UDA7	Nonsense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.983819|6.983819	0.97983|0.97983	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000263708;ENST00000544261|ENST00000441089	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|.	D|.	0|.	.|.	19.4142|19.4142	0.94688|0.94688	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	786;419|69	.|.	ENSP00000263708:E786X|.	E|X	+|+	1|2	0|2	PTPN4|PTPN4	120436737|120436737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.849000|0.849000	0.48306|0.48306	9.481000|9.481000	0.97933|0.97933	2.592000|2.592000	0.87571|0.87571	0.460000|0.460000	0.39030|0.39030	GAA|TGA		0.388	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			T	120720267	G	T	120720267	4	4	371	1	0	0	0	0	0	1	0	0	12796	1291	45	4	2446	4	PTPN4	2	120720267	Nonsense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08	102773955	120720267	122479106	7	20665											
IWS1	55677	broad.mit.edu;ucsc.edu	37	2	128262532	128262533	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr2:128262532_128262533TC>AA	ENST00000295321.4	-	3	1205_1206	c.946_947GA>TT	c.(946-948)GAa>TTa	p.E316L	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Missense_Mutation_p.E323L	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	316	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E316*(1)|p.E316V(1)|p.E316>?(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ATCCTCAGTTTCTGAGTCACTG	0.525																																																3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.946_947delinsAA	2.37:g.128262532_128262533delinsAA	ENSP00000295321:p.Glu316Leu		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000295321.4	37	CCDS2146.1																																																																																				0.525	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		AA	128262533	TC	AA	128262532	3	1	371	1	0	0	0	0	1	0	0	0	7933	1783	62	5	1560	5	IWS1	2	128262532	Missense_Mutation	DNP	TC	TCGA-BP-4801-01A-02D-1421-08	7542265	128262532	114936841	8	20666											
TTN	7273	broad.mit.edu	37	2	179604751	179604751	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr2:179604751C>G	ENST00000591111.1	-	46	12482	c.12258G>C	c.(12256-12258)ttG>ttC	p.L4086F	TTN_ENST00000359218.5_Missense_Mutation_p.L4165F|TTN_ENST00000460472.2_Missense_Mutation_p.L4040F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L4232F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L4403F|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					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)	p.L4165F(1)		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)			CGGCTGCTTGCAAAGCCCGGC	0.488																																																1	Substitution - Missense(1)	kidney(1)											61	62	62					2																	179604751		1870	4099	5969	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12258G>C	2.37:g.179604751C>G	ENSP00000465570:p.Leu4086Phe		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	7.421	0.636734	0.14386	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;D;D	0.82081	-1.45;-1.57;-1.57	5.46	3.65	0.41850	.	.	.	.	.	D	0.84279	0.5437	L	0.36672	1.1	0.22639	N	0.998904	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65233	0.933;0.933;0.933	T	0.73069	-0.4099	9	0.87932	D	0	.	7.8823	0.29629	0.0:0.698:0.0:0.302	.	4040;4165;4232	D3DPF9;E7EQE6;E7ET18	.;.;.	F	4040;4232;4165;4040	ENSP00000434586:L4040F;ENSP00000340554:L4232F;ENSP00000352154:L4165F	ENSP00000340554:L4232F	L	-	3	2	TTN	179312996	0.049000	0.20398	1.000000	0.80357	0.603000	0.37013	-0.640000	0.05440	1.309000	0.44985	0.655000	0.94253	TTG		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179604751	C	G	179604751	3	3	371	1	0	0	0	0	1	0	0	0	16740	709	25	4	91580	4	TTN	2	179604751	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08	51342219	179604751	63594622	9	20667											
TUBA4A	7277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220115231	220115231	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr2:220115231A>C	ENST00000248437.4	-	4	1363	c.1190T>G	c.(1189-1191)cTg>cGg	p.L397R	TUBA4A_ENST00000392088.2_Missense_Mutation_p.L382R|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'Flank	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	397					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L382R(1)|p.L397R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GGCATACATCAGGTCGAACTT	0.637																																																2	Substitution - Missense(2)	kidney(2)											119	106	110					2																	220115231		2203	4300	6503	SO:0001583	missense	7277			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.1190T>G	2.37:g.220115231A>C	ENSP00000248437:p.Leu397Arg		A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.776167	0.49786	.	.	ENSG00000127824	ENST00000248437;ENST00000392088	D;D	0.85088	-1.94;-1.94	5.06	5.06	0.68205	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.53938	D	0.000047	D	0.92509	0.7621	M	0.87097	2.86	0.80722	D	1	D	0.64830	0.994	D	0.64506	0.926	D	0.93858	0.7151	10	0.87932	D	0	.	14.9593	0.71144	1.0:0.0:0.0:0.0	.	397	P68366	TBA4A_HUMAN	R	397;382	ENSP00000248437:L397R;ENSP00000375938:L382R	ENSP00000248437:L397R	L	-	2	0	TUBA4A	219823475	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.107000	0.94261	2.111000	0.64477	0.533000	0.62120	CTG		0.637	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		C	220115231	A	C	220115231	3	2	371	1	0	0	0	0	1	0	0	0	16754	188	7	5	160	5	TUBA4A	2	220115231	Missense_Mutation	SNP	A	TCGA-BP-4801-01A-02D-1421-08	40510480	220115231	23084142	10	20668											
TRAF3IP1	26146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	239233980	239233980	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr2:239233980T>C	ENST00000373327.4	+	2	379	c.157T>C	c.(157-159)Tac>Cac	p.Y53H	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.Y53H|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.Y53H	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	53	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.Y53H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GAAGGGCCTCTACACAGACGC	0.493																																																1	Substitution - Missense(1)	kidney(1)											174	172	173					2																	239233980		2203	4300	6503	SO:0001583	missense	26146			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.157T>C	2.37:g.239233980T>C	ENSP00000362424:p.Tyr53His		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250807	0.80135	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.34275	1.37;1.37;1.37	4.45	4.45	0.53987	.	0.121261	0.64402	D	0.000020	T	0.60983	0.2311	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67067	-0.5764	10	0.87932	D	0	-24.0579	12.9001	0.58121	0.0:0.0:0.0:1.0	.	53;53	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	H	53	ENSP00000375851:Y53H;ENSP00000362424:Y53H;ENSP00000375852:Y53H	ENSP00000362424:Y53H	Y	+	1	0	TRAF3IP1	238898719	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.993000	0.76245	1.637000	0.50538	0.533000	0.62120	TAC		0.493	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		C	239233980	T	C	239233980	3	2	371	1	0	0	0	0	1	0	0	0	16445	1522	53	3	163	3	TRAF3IP1	2	239233980	Missense_Mutation	SNP	T	TCGA-BP-4801-01A-02D-1421-08	19118749	239233980	3965393	11	20669											
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52696148	52696148	+	Splice_Site	SNP	C	C	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr3:52696148C>A	ENST00000296302.7	-	4	530		c.e4+1		PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TACACACTTACTCCTTCAGTC	0.488			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Unknown(3)	kidney(3)											366	333	344					3																	52696148		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.528+1G>T	3.37:g.52696148C>A			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.084633	0.76642	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4035	0.94640	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52671188	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	4.881000	0.63114	2.590000	0.87494	0.650000	0.86243	.		0.488	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	A	52696148	C	A	52696148	5	1	371	1	0	0	0	0	0	0	1	0	11493	579	20	4	4479	4	PBRM1	3	52696148	Splice_Site	SNP	C	TCGA-BP-4801-01A-02D-1421-08		52696148	145326282	12	20670											
CRYGS	1427	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186256604	186256604	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr3:186256604A>T	ENST00000392499.2	-	4	757	c.418T>A	c.(418-420)Tat>Aat	p.Y140N	CRYGS_ENST00000307944.5_Missense_Mutation_p.Y140N	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	140	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)	p.Y140N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GGTAGCTCATAGAAAATCCAG	0.527																																																1	Substitution - Missense(1)	kidney(1)											91	84	87					3																	186256604		2203	4300	6503	SO:0001583	missense	1427				CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"crystallin, gamma 8"	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.418T>A	3.37:g.186256604A>T	ENSP00000376287:p.Tyr140Asn		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	37	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946092	0.73672	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	D;D	0.86694	-2.16;-2.16	5.95	5.95	0.96441	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.64402	U	0.000008	D	0.95692	0.8599	H	0.96777	3.88	0.51482	D	0.999928	D	0.89917	1.0	D	0.81914	0.995	D	0.96943	0.9689	10	0.87932	D	0	.	14.368	0.66820	1.0:0.0:0.0:0.0	.	140	P22914	CRBS_HUMAN	N	140	ENSP00000376287:Y140N;ENSP00000312099:Y140N	ENSP00000312099:Y140N	Y	-	1	0	CRYGS	187739298	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	5.201000	0.65163	2.279000	0.76181	0.533000	0.62120	TAT		0.527	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541		T	186256604	A	T	186256604	3	4	371	1	0	0	0	0	1	0	0	0	3921	420	15	5	122	5	CRYGS	3	186256604	Missense_Mutation	SNP	A	TCGA-BP-4801-01A-02D-1421-08	133560456	186256604	11765826	13	20671											
NFXL1	152518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	47880552	47880552	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr4:47880552C>A	ENST00000507489.1	-	17	2245	c.2069G>T	c.(2068-2070)gGa>gTa	p.G690V	NFXL1_ENST00000381538.3_Missense_Mutation_p.G690V|NFXL1_ENST00000329043.3_Missense_Mutation_p.G690V	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	690						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)	p.G690V(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTTGTTTTTTCCAGTGCAGCC	0.338																																																1	Substitution - Missense(1)	kidney(1)											247	243	244					4																	47880552		2203	4300	6503	SO:0001583	missense	152518			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.2069G>T	4.37:g.47880552C>A	ENSP00000422037:p.Gly690Val		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	6.818	0.520094	0.13005	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.60672	0.17;0.17;1.57	5.33	-0.877	0.10621	.	0.536026	0.18225	N	0.147742	T	0.51517	0.1679	M	0.80508	2.5	0.09310	N	0.999993	B	0.02656	0.0	B	0.06405	0.002	T	0.44298	-0.9337	10	0.30078	T	0.28	0.2712	6.7727	0.23602	0.0:0.3933:0.1245:0.4822	.	690	Q6ZNB6	NFXL1_HUMAN	V	690	ENSP00000370949:G690V;ENSP00000422037:G690V;ENSP00000333113:G690V	ENSP00000333113:G690V	G	-	2	0	NFXL1	47575309	0.007000	0.16637	0.123000	0.21794	0.797000	0.45037	-0.048000	0.11944	-0.115000	0.11915	0.591000	0.81541	GGA		0.338	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		A	47880552	C	A	47880552	3	1	371	1	0	0	0	0	1	0	0	0	10390	855	30	4	694	4	NFXL1	4	47880552	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08		47880552	143273724	14	20672											
UBA6	55236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	68547886	68547886	+	Silent	SNP	G	G	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr4:68547886G>A	ENST00000322244.5	-	3	239	c.180C>T	c.(178-180)gcC>gcT	p.A60A	UBA6_ENST00000420827.2_Silent_p.A60A	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	60					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.A60A(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CATGGGACTTGGCCATCTTCT	0.348																																																1	Substitution - coding silent(1)	kidney(1)											97	96	96					4																	68547886		2203	4300	6503	SO:0001819	synonymous_variant	55236			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.180C>T	4.37:g.68547886G>A			A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	CCDS3516.1																																																																																				0.348	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		A	68547886	G	A	68547886	2	1	371	1	0	0	0	0	0	0	0	1	16837	1335	47	2		2	UBA6	4	68547886	Silent	SNP	G	TCGA-BP-4801-01A-02D-1421-08	20667334	68547886	122606390	15	20673											
ARHGAP10	79658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	148861022	148861022	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr4:148861022G>C	ENST00000336498.3	+	14	1514	c.1275G>C	c.(1273-1275)aaG>aaC	p.K425N	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.K74N	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1190					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.K425N(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TGAGTTCAAAGGTCCAGAGAC	0.348																																																1	Substitution - Missense(1)	kidney(1)											251	253	252					4																	148861022		2203	4300	6503	SO:0001583	missense	79658			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1275G>C	4.37:g.148861022G>C	ENSP00000336923:p.Lys425Asn		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	CCDS34075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.094721|4.094721	0.76870|0.76870	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000507661|ENST00000336498;ENST00000414545	.|T;T	.|0.19394	.|2.15;2.15	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45377|0.45377	0.1339|0.1339	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.87578	.|0.998;0.989	T|T	0.32613|0.32613	-0.9900|-0.9900	5|10	.|0.87932	.|D	.|0	.|.	19.5539|19.5539	0.95333|0.95333	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|74;425	.|E7EUW5;A1A4S6	.|.;RHG10_HUMAN	R|N	103|425;74	.|ENSP00000336923:K425N;ENSP00000406624:K74N	.|ENSP00000336923:K425N	G|K	+|+	1|3	0|2	ARHGAP10|ARHGAP10	149080472|149080472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.634000|4.634000	0.61325|0.61325	2.630000|2.630000	0.89119|0.89119	0.655000|0.655000	0.94253|0.94253	GGT|AAG		0.348	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		C	148861022	G	C	148861022	3	2	371	1	0	0	0	0	1	0	0	0	862	991	35	4	1329	4	ARHGAP10	4	148861022	Missense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08	80313136	148861022	42293254	16	20674											
HIST1H2AH	85235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27115055	27115055	+	Missense_Mutation	SNP	G	G	A	rs201037769		TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr6:27115055G>A	ENST00000377459.1	+	1	195	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	50						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V50M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						CGGCGCGCCAGTGTACCTGGC	0.657																																																1	Substitution - Missense(1)	kidney(1)											46	50	49					6																	27115055		2203	4300	6503	SO:0001583	missense	85235			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"Histones / Replication-dependent"	13671	protein-coding gene	gene with protein product		615013	"histone 1, H2ah"			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.148G>A	6.37:g.27115055G>A	ENSP00000366679:p.Val50Met			Missense_Mutation	SNP	ENST00000377459.1	37	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280328	0.40294	.	.	ENSG00000184825	ENST00000377459	D	0.87809	-2.3	3.95	3.95	0.45737	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.37012	N	0.002290	D	0.96318	0.8799	H	0.99697	4.71	0.38930	D	0.957911	D	0.89917	1.0	D	0.97110	1.0	D	0.97875	1.0288	10	0.87932	D	0	.	14.3093	0.66405	0.0:0.0:1.0:0.0	.	50	Q96KK5	H2A1H_HUMAN	M	50	ENSP00000366679:V50M	ENSP00000366679:V50M	V	+	1	0	HIST1H2AH	27223034	1.000000	0.71417	0.750000	0.31169	0.049000	0.14656	8.845000	0.92153	2.142000	0.66516	0.655000	0.94253	GTG		0.657	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		A	27115055	G	A	27115055	3	1	371	1	0	0	0	0	1	0	0	0	7136	1029	36	2	150	2	HIST1H2AH	6	27115055	Missense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08		27115055	144000012	17	20675											
SYNGAP1	8831	broad.mit.edu	37	6	33411625	33411625	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr6:33411625A>G	ENST00000418600.2	+	15	3397	c.3296A>G	c.(3295-3297)tAt>tGt	p.Y1099C	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.Y1040C|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.Y1099C	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1099					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.Y1099C(1)|p.Y1084C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAGCCAAGTTATGGCCCCGCC	0.667																																																2	Substitution - Missense(2)	kidney(2)											26	32	30					6																	33411625		2201	4295	6496	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3296A>G	6.37:g.33411625A>G	ENSP00000403636:p.Tyr1099Cys		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010592	0.35511	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.11930	2.73;2.73;2.73	4.39	4.39	0.52855	.	2.065980	0.01685	N	0.026381	T	0.13415	0.0325	L	0.29908	0.895	0.33918	D	0.640545	D;D;D	0.69078	0.997;0.99;0.997	P;P;P	0.58520	0.84;0.634;0.753	T	0.01753	-1.1281	10	0.39692	T	0.17	.	11.6227	0.51128	1.0:0.0:0.0:0.0	.	1099;1099;1099	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	C	1099;1099;1085;1040	ENSP00000293748:Y1099C;ENSP00000403636:Y1099C;ENSP00000412475:Y1040C	ENSP00000293748:Y1099C	Y	+	2	0	SYNGAP1	33519603	0.590000	0.26815	0.931000	0.37212	0.995000	0.86356	1.658000	0.37376	1.850000	0.53721	0.482000	0.46254	TAT		0.667	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		G	33411625	A	G	33411625	3	3	371	1	0	0	0	0	1	0	0	0	15452	449	16	3	3354	3	SYNGAP1	6	33411625	Missense_Mutation	SNP	A	TCGA-BP-4801-01A-02D-1421-08	6296570	33411625	137703442	18	20676											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56500387	56500387	+	Splice_Site	SNP	C	C	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr6:56500387C>A	ENST00000361203.3	-	20	2560	c.2553G>T	c.(2551-2553)atG>atT	p.M851I	DST_ENST00000370788.2_Splice_Site_p.M851I|DST_ENST00000370769.4_Splice_Site_p.M851I|DST_ENST00000370765.6_Splice_Site_p.M525I|DST_ENST00000446842.2_Splice_Site_p.M525I|DST_ENST00000244364.6_Splice_Site_p.M525I|DST_ENST00000518935.1_Splice_Site_p.M525I|DST_ENST00000370754.5_Splice_Site_p.M1029I|DST_ENST00000312431.6_Splice_Site_p.M851I|DST_ENST00000421834.2_Splice_Site_p.M851I			Q03001	DYST_HUMAN	dystonin	851					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.M525I(3)|p.M851I(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTATTAGTACCATTGATTCCT	0.338																																																4	Substitution - Missense(4)	kidney(4)											109	98	102					6																	56500387		2203	4300	6503	SO:0001630	splice_region_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2553+1G>T	6.37:g.56500387C>A			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	33	5.205586	0.95033	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000019	T	0.58104	0.2099	M	0.80982	2.52	0.33230	D	0.555826	D;P;D;D;D;D;D;D	0.65815	0.993;0.936;0.969;0.991;0.995;0.967;0.993;0.99	D;P;D;P;D;D;D;D	0.73380	0.968;0.885;0.914;0.833;0.937;0.959;0.968;0.98	T	0.58103	-0.7695	8	.	.	.	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	851;851;1029;525;525;525;851;525	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	I	525;1029;851;851;525;851;851;851;525;891;525;525	ENSP00000244364:M525I;ENSP00000359790:M1029I;ENSP00000359805:M851I;ENSP00000400883:M851I;ENSP00000393645:M525I;ENSP00000307959:M851I;ENSP00000359824:M851I;ENSP00000354508:M851I;ENSP00000404924:M525I;ENSP00000431030:M891I;ENSP00000359801:M525I;ENSP00000431003:M525I	.	M	-	3	0	DST	56608346	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.999000	0.70665	2.677000	0.91161	0.655000	0.94253	ATG		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	Missense_Mutation	A	56500387	C	A	56500387	5	1	371	1	0	0	0	0	0	0	1	0	4785	608	21	4	18880	4	DST	6	56500387	Splice_Site	SNP	C	TCGA-BP-4801-01A-02D-1421-08	23088762	56500387	114614680	19	20677											
FHL5	9457	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	97063550	97063550	+	Missense_Mutation	SNP	G	G	A	rs370981552		TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr6:97063550G>A	ENST00000326771.2	+	7	1137	c.757G>A	c.(757-759)Ggg>Agg	p.G253R	FHL5_ENST00000541107.1_Missense_Mutation_p.G253R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	253	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.G253W(2)|p.G253R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTTTAACTGCGGGAAATGCTC	0.458																																																3	Substitution - Missense(3)	lung(2)|kidney(1)						G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	113	110	111		757,757	3.9	1	6		111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FHL5	NM_001170807.1,NM_020482.4	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	253/285,253/285	97063550	1,13005	2203	4300	6503	SO:0001583	missense	9457			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.757G>A	6.37:g.97063550G>A	ENSP00000326022:p.Gly253Arg		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614403	0.28712	0.0	1.16E-4	ENSG00000112214	ENST00000541107;ENST00000326771	D;D	0.86956	-2.19;-2.19	5.66	3.87	0.44632	Zinc finger, LIM-type (5);	0.181180	0.27004	N	0.021405	T	0.63510	0.2517	N	0.16862	0.45	0.25789	N	0.984641	B	0.14012	0.009	B	0.13407	0.009	T	0.58092	-0.7697	10	0.44086	T	0.13	.	11.6625	0.51356	0.1973:0.0:0.8027:0.0	.	253	Q5TD97	FHL5_HUMAN	R	253	ENSP00000442357:G253R;ENSP00000326022:G253R	ENSP00000326022:G253R	G	+	1	0	FHL5	97170271	0.043000	0.20138	0.978000	0.43139	0.976000	0.68499	1.908000	0.39907	1.393000	0.46605	0.655000	0.94253	GGG		0.458	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		A	97063550	G	A	97063550	3	1	371	1	0	0	0	0	1	0	0	0	5883	1116	39	1	775	1	FHL5	6	97063550	Missense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08	40563163	97063550	74051517	20	20678											
WTAP	9589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160174528	160174528	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr6:160174528G>A	ENST00000358372.4	+	7	2246	c.489G>A	c.(487-489)atG>atA	p.M163I	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	163					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.M163I(1)|p.M163_L164delML(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AGTGTCGAATGCTTATCCAGG	0.438																																																2	Substitution - Missense(1)|Deletion - In frame(1)	prostate(1)|kidney(1)											125	118	121					6																	160174528		2203	4300	6503	SO:0001583	missense	9589			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.489G>A	6.37:g.160174528G>A	ENSP00000351141:p.Met163Ile		Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488666	0.96323	.	.	ENSG00000146457	ENST00000358372	T	0.50001	0.76	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	L	0.36672	1.1	0.80722	D	1	D;P	0.67145	0.996;0.512	P;B	0.59056	0.851;0.199	T	0.25398	-1.0133	10	0.37606	T	0.19	1.3765	20.8794	0.99867	0.0:0.0:1.0:0.0	.	163;163	A8K489;Q15007	.;FL2D_HUMAN	I	163	ENSP00000351141:M163I	ENSP00000351141:M163I	M	+	3	0	WTAP	160094518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.841000	0.99482	2.941000	0.99782	0.655000	0.94253	ATG		0.438	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		A	160174528	G	A	160174528	3	1	371	1	0	0	0	0	1	0	0	0	17414	1319	46	2	515	2	WTAP	6	160174528	Missense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08	63110978	160174528	10940539	21	20679											
AMPH	273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	38429478	38429478	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr7:38429478G>A	ENST00000356264.2	-	20	2122	c.1907C>T	c.(1906-1908)gCa>gTa	p.A636V	AMPH_ENST00000428293.2_Missense_Mutation_p.A594V|AMPH_ENST00000325590.5_Missense_Mutation_p.A594V|AMPH_ENST00000471913.1_5'Flank	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	636	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.A636V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ATCAGAATTTGCTGCCTCAAA	0.413																																																1	Substitution - Missense(1)	kidney(1)											169	159	162					7																	38429478		2203	4300	6503	SO:0001583	missense	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1907C>T	7.37:g.38429478G>A	ENSP00000348602:p.Ala636Val		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	32	5.157203	0.94686	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	T;T;T	0.46819	0.86;0.86;0.86	5.04	5.04	0.67666	Src homology-3 domain (3);Variant SH3 (1);	0.106861	0.64402	D	0.000006	T	0.64204	0.2577	L	0.49455	1.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.999;1.0;0.987	T	0.58555	-0.7616	10	0.32370	T	0.25	-23.8179	19.2716	0.94013	0.0:0.0:1.0:0.0	.	594;636;524	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	V	594;636;594;538	ENSP00000317441:A594V;ENSP00000348602:A636V;ENSP00000390734:A594V	ENSP00000317441:A594V	A	-	2	0	AMPH	38396003	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.492000	0.90471	2.733000	0.93635	0.467000	0.42956	GCA		0.413	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		A	38429478	G	A	38429478	3	1	371	1	0	0	0	0	1	0	0	0	588	1319	46	2	188	2	AMPH	7	38429478	Missense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08		38429478	120709185	22	20680											
NCOA2	10499	hgsc.bcm.edu;ucsc.edu	37	8	71069452	71069452	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr8:71069452delT	ENST00000452400.2	-	11	1329	c.1148delA	c.(1147-1149)aatfs	p.N383fs	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	383					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGATCCGGATTCATCACACA	0.413			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													63	59	60					8																	71069452		1924	4135	6059	SO:0001589	frameshift_variant	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1148delA	8.37:g.71069452delT	ENSP00000399968:p.Asn383fs		Q14CD2	Frame_Shift_Del	DEL	ENST00000452400.2	37	CCDS47872.1																																																																																				0.413	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			-	71069452	T	-	71069452	7	5	371	1	0	1	0	1	0	0	0	0	10231	1493	52	0	3298	0	NCOA2	8	71069452	Frame_Shift_Del	DEL	T	TCGA-BP-4801-01A-02D-1421-08		71069452	75294570	23	20681											
FAM135B	51059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	139165076	139165076	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr8:139165076C>A	ENST00000395297.1	-	13	1812	c.1642G>T	c.(1642-1644)Gcc>Tcc	p.A548S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	548								p.A548S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCACTGGGGCCTGTCCATCC	0.507										HNSCC(54;0.14)																																						2	Substitution - Missense(2)	kidney(2)											82	81	81					8																	139165076		1955	4149	6104	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1642G>T	8.37:g.139165076C>A	ENSP00000378710:p.Ala548Ser		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012190	0.35511	.	.	ENSG00000147724	ENST00000395297	T	0.15139	2.45	5.45	0.391	0.16282	.	1.070190	0.07132	N	0.845765	T	0.12008	0.0292	L	0.51422	1.61	0.09310	N	1	B;B;B	0.20052	0.041;0.019;0.001	B;B;B	0.17722	0.019;0.019;0.002	T	0.40117	-0.9580	10	0.08837	T	0.75	-0.2566	0.8838	0.01240	0.2413:0.3703:0.1178:0.2706	.	548;548;548	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	548	ENSP00000378710:A548S	ENSP00000276737:A548S	A	-	1	0	FAM135B	139234258	0.000000	0.05858	0.004000	0.12327	0.987000	0.75469	-0.552000	0.06020	-0.140000	0.11394	0.655000	0.94253	GCC		0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		A	139165076	C	A	139165076	3	1	371	1	0	0	0	0	1	0	0	0	5451	739	26	4	2610	4	FAM135B	8	139165076	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08	68095624	139165076	7198946	24	20682											
DOCK8	81704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	304680	304680	+	Silent	SNP	G	G	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr9:304680G>A	ENST00000453981.1	+	5	616	c.504G>A	c.(502-504)ttG>ttA	p.L168L	DOCK8_ENST00000469391.1_Silent_p.L100L|DOCK8_ENST00000432829.2_Silent_p.L100L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	168					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L100L(1)|p.L168L(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CGGAAACCTTGGAGTGCAGTG	0.463																																																2	Substitution - coding silent(2)	kidney(2)											121	126	124					9																	304680		2203	4300	6503	SO:0001819	synonymous_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.504G>A	9.37:g.304680G>A			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	CCDS6440.2																																																																																				0.463	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		A	304680	G	A	304680	2	1	371	1	0	0	0	0	0	0	0	1	4695	1339	47	2		2	DOCK8	9	304680	Silent	SNP	G	TCGA-BP-4801-01A-02D-1421-08		304680	140908751	25	20683											
PCSK5	5125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	78601100	78601100	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr9:78601100A>C	ENST00000545128.1	+	3	888	c.350A>C	c.(349-351)gAc>gCc	p.D117A	PCSK5_ENST00000376767.3_Missense_Mutation_p.D117A|PCSK5_ENST00000376752.4_Missense_Mutation_p.D117A	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	117					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.D117A(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGGGATTATGACTTCAGTCGT	0.468																																																3	Substitution - Missense(3)	kidney(3)											208	176	187					9																	78601100		2203	4300	6503	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.350A>C	9.37:g.78601100A>C	ENSP00000446280:p.Asp117Ala		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.306940	0.23821	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	T;T;T	0.41400	1.0;1.0;1.0	5.83	5.83	0.93111	.	.	.	.	.	T	0.22898	0.0553	N	0.08118	0	0.39255	D	0.96411	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.0	T	0.14448	-1.0472	9	0.06494	T	0.89	.	16.1968	0.82036	1.0:0.0:0.0:0.0	.	117;117	Q92824-2;B1AMG5	.;.	A	117	ENSP00000446280:D117A;ENSP00000365958:D117A;ENSP00000365943:D117A	ENSP00000365943:D117A	D	+	2	0	PCSK5	77790920	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.058000	0.76676	2.225000	0.72522	0.533000	0.62120	GAC		0.468	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	78601100	A	C	78601100	3	2	371	1	0	0	0	0	1	0	0	0	11605	275	10	5	360	5	PCSK5	9	78601100	Missense_Mutation	SNP	A	TCGA-BP-4801-01A-02D-1421-08	78296420	78601100	62612331	26	20684											
AKNA	80709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	117139683	117139683	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr9:117139683T>A	ENST00000307564.4	-	3	565	c.404A>T	c.(403-405)gAg>gTg	p.E135V	AKNA_ENST00000374075.5_Missense_Mutation_p.E54V|AKNA_ENST00000374088.3_Missense_Mutation_p.E135V|AKNA_ENST00000223791.3_5'Flank|AKNA_ENST00000312033.3_Missense_Mutation_p.E135V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	135					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E135V(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCCAGCCTCCTCAACCTCCAG	0.612																																																1	Substitution - Missense(1)	kidney(1)											40	38	39					9																	117139683		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.404A>T	9.37:g.117139683T>A	ENSP00000303769:p.Glu135Val		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.270598	0.40194	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.36878	2.46;2.46;2.46;1.23	4.58	4.58	0.56647	.	0.598725	0.13919	N	0.353681	T	0.38081	0.1027	N	0.19112	0.55	0.58432	D	0.999999	D;P;P	0.58268	0.982;0.917;0.95	P;B;P	0.56612	0.802;0.421;0.648	T	0.21690	-1.0238	10	0.72032	D	0.01	-4.3384	10.6295	0.45527	0.0:0.0:0.0:1.0	.	135;135;54	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	V	135;135;54;135;135	ENSP00000303769:E135V;ENSP00000363201:E135V;ENSP00000363188:E54V;ENSP00000309222:E135V	ENSP00000303769:E135V	E	-	2	0	AKNA	116179504	0.004000	0.15560	0.024000	0.17045	0.050000	0.14768	1.128000	0.31369	1.831000	0.53308	0.379000	0.24179	GAG		0.612	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		A	117139683	T	A	117139683	3	1	371	1	0	0	0	0	1	0	0	0	463	1551	54	5	3995	5	AKNA	9	117139683	Missense_Mutation	SNP	T	TCGA-BP-4801-01A-02D-1421-08	38538583	117139683	24073748	27	20685											
ADAMTS13	11093	broad.mit.edu;hgsc.bcm.edu	37	9	136313849	136313849	+	Splice_Site	SNP	G	G	C	rs200273776	byFrequency	TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr9:136313849G>C	ENST00000371929.3	+	22	3305	c.2861G>C	c.(2860-2862)cGg>cCg	p.R954P	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Splice_Site_p.R954P|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Splice_Site_p.R923P	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	954	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R954P(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGCCCTGCTCGGTGAGTGAGG	0.677																																																1	Substitution - Missense(1)	kidney(1)											44	42	43					9																	136313849		2203	4299	6502	SO:0001630	splice_region_variant	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2861+1G>C	9.37:g.136313849G>C			Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895843	0.33442	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.60548	0.18;0.18;0.18	5.51	1.7	0.24286	.	.	.	.	.	T	0.60483	0.2272	M	0.71581	2.175	0.80722	D	1	D;D;D	0.65815	0.992;0.995;0.995	P;P;P	0.55345	0.599;0.774;0.774	T	0.55566	-0.8121	9	0.25751	T	0.34	.	4.309	0.10962	0.3207:0.0:0.5319:0.1474	.	954;923;954	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	P	954;954;923	ENSP00000360997:R954P;ENSP00000347927:R954P;ENSP00000348997:R923P	ENSP00000347927:R954P	R	+	2	0	ADAMTS13	135303670	0.933000	0.31639	0.169000	0.22859	0.465000	0.32709	1.366000	0.34193	0.051000	0.15978	-0.749000	0.03505	CGG		0.677	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025	Missense_Mutation	C	136313849	G	C	136313849	5	2	371	1	0	0	0	0	0	0	1	0	258	1130	39	4	2947	4	ADAMTS13	9	136313849	Splice_Site	SNP	G	TCGA-BP-4801-01A-02D-1421-08	19174166	136313849	4899582	28	20686											
HTR7	3363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	92617162	92617162	+	Silent	SNP	C	C	G			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr10:92617162C>G	ENST00000336152.3	-	1	293	c.267G>C	c.(265-267)acG>acC	p.T89T	HTR7_ENST00000371721.3_Silent_p.T89T|HTR7_ENST00000371719.2_Silent_p.T89T|HTR7_ENST00000277874.6_Silent_p.T89T	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	89					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.T89T(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GCGTGATGAGCGTCAGGATGG	0.627																																																2	Substitution - coding silent(2)	kidney(2)											77	69	72					10																	92617162		2203	4300	6503	SO:0001819	synonymous_variant	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.267G>C	10.37:g.92617162C>G			B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	CCDS7408.1																																																																																				0.627	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		G	92617162	C	G	92617162	2	3	371	1	0	0	0	0	0	0	0	1	7454	755	27	4		4	HTR7	10	92617162	Silent	SNP	C	TCGA-BP-4801-01A-02D-1421-08		92617162	42917585	29	20687											
ATG2A	23130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64676580	64676580	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr11:64676580C>G	ENST00000377264.3	-	16	2359	c.2247G>C	c.(2245-2247)tgG>tgC	p.W749C	ATG2A_ENST00000421419.2_Missense_Mutation_p.W749C	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	749					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.W749C(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGCCACCTCCCACTGTGTGC	0.642																																																1	Substitution - Missense(1)	kidney(1)											72	53	60					11																	64676580		2201	4297	6498	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2247G>C	11.37:g.64676580C>G	ENSP00000366475:p.Trp749Cys		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.598784|3.598784	0.66332|0.66332	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.06608	.|3.28;3.28	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.442134	.|0.21803	.|N	.|0.068887	T|T	0.16811|0.16811	0.0404|0.0404	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.59012	.|0.85	T|T	0.00134|0.00134	-1.2008|-1.2008	5|10	.|0.62326	.|D	.|0.03	.|.	15.7078|15.7078	0.77598|0.77598	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|749	.|Q2TAZ0	.|ATG2A_HUMAN	R|C	551|749	.|ENSP00000410522:W749C;ENSP00000366475:W749C	.|ENSP00000366475:W749C	G|W	-|-	1|3	0|0	ATG2A|ATG2A	64433156|64433156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	3.685000|3.685000	0.54678|0.54678	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.642	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		G	64676580	C	G	64676580	3	3	371	1	0	0	0	0	1	0	0	0	1093	624	22	4	3673	4	ATG2A	11	64676580	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08		64676580	70329936	30	20688											
MRGPRD	116512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68747868	68747868	+	Silent	SNP	C	C	G			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr11:68747868C>G	ENST00000309106.3	-	1	587	c.588G>C	c.(586-588)ctG>ctC	p.L196L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	196						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L196L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCAGGCTGGACAGAGTCATCA	0.597																																																1	Substitution - coding silent(1)	kidney(1)											51	45	47					11																	68747868		2200	4294	6494	SO:0001819	synonymous_variant	116512			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"GPCR / Class A : Orphans"	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.588G>C	11.37:g.68747868C>G			Q8NGK7	Silent	SNP	ENST00000309106.3	37	CCDS31625.1																																																																																				0.597	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		G	68747868	C	G	68747868	2	3	371	1	0	0	0	0	0	0	0	1	9765	465	17	4		4	MRGPRD	11	68747868	Silent	SNP	C	TCGA-BP-4801-01A-02D-1421-08	4071288	68747868	66258648	31	20689											
DSCAML1	57453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117332278	117332278	+	Silent	SNP	C	C	G			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr11:117332278C>G	ENST00000321322.6	-	18	3481	c.3480G>C	c.(3478-3480)ctG>ctC	p.L1160L	DSCAML1_ENST00000527706.1_Silent_p.L890L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1100	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.L1160L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AAGTGATGGACAGGGCCCGGA	0.607																																																1	Substitution - coding silent(1)	kidney(1)											60	63	62					11																	117332278		2201	4296	6497	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3480G>C	11.37:g.117332278C>G			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		G	117332278	C	G	117332278	2	3	371	1	0	0	0	0	0	0	0	1	4771	465	17	4		4	DSCAML1	11	117332278	Silent	SNP	C	TCGA-BP-4801-01A-02D-1421-08	48584410	117332278	17674238	32	20690											
PRMT8	56341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	3659255	3659255	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr12:3659255G>A	ENST00000382622.3	+	3	805	c.415G>A	c.(415-417)Ggg>Agg	p.G139R	PRMT8_ENST00000452611.2_Missense_Mutation_p.G130R|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	139	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.G139R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GAAGGTGTTTGGGGTGAGCAC	0.562																																																1	Substitution - Missense(1)	kidney(1)											134	112	119					12																	3659255		2203	4300	6503	SO:0001583	missense	56341			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.415G>A	12.37:g.3659255G>A	ENSP00000372067:p.Gly139Arg		B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701530	0.88924	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.36340	1.26;1.26	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.83968	0.0325	10	0.87932	D	0	.	16.9998	0.86378	0.0:0.0:1.0:0.0	.	130;139	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	R	130;139	ENSP00000414507:G130R;ENSP00000372067:G139R	ENSP00000372067:G139R	G	+	1	0	PRMT8	3529516	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	9.813000	0.99286	2.610000	0.88304	0.561000	0.74099	GGG		0.562	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		A	3659255	G	A	3659255	3	1	371	1	0	0	0	0	1	0	0	0	12547	1348	47	2	425	2	PRMT8	12	3659255	Missense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08		3659255	130192640	33	20691											
PTPRB	5801	broad.mit.edu;hgsc.bcm.edu	37	12	71029653	71029653	+	IGR	SNP	G	G	T			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr12:71029653G>T	ENST00000283228.2	-	0	3529				PTPRB_ENST00000334414.6_Silent_p.I83I|PTPRB_ENST00000551525.1_Silent_p.I82I|PTPRB_ENST00000550358.1_Silent_p.I83I|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000538174.2_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I83I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGCGGTCCAAGATGGCTGAGC	0.547																																																1	Substitution - coding silent(1)	kidney(1)											57	57	57					12																	71029653		1980	4142	6122	SO:0001628	intergenic_variant	5787			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029653G>T			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	CCDS8998.1																																																																																				0.547	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		T	71029653	G	T	71029653	1	4	371	0	1	0	0	0	0	0	0	0	12802	932	33	4		4	PTPRB	12	71029653	IGR	SNP	G	TCGA-BP-4801-01A-02D-1421-08	67370398	71029653	62822242	34	20692											
HCFC2	29915	hgsc.bcm.edu;ucsc.edu	37	12	104476286	104476286	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr12:104476286delT	ENST00000229330.4	+	6	880	c.776delT	c.(775-777)attfs	p.I259fs		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	259					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGGATGTACATTTTTGGTGGA	0.353																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)											0													97	96	96					12																	104476286		2203	4300	6503	SO:0001589	frameshift_variant	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.776delT	12.37:g.104476286delT	ENSP00000229330:p.Ile259fs		B2R8Q5|C0H5X3	Frame_Shift_Del	DEL	ENST00000229330.4	37	CCDS9097.1																																																																																				0.353	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		-	104476286	T	-	104476286	7	5	371	1	0	1	0	1	0	0	0	0	6995	1493	52	0	798	0	HCFC2	12	104476286	Frame_Shift_Del	DEL	T	TCGA-BP-4801-01A-02D-1421-08	33446633	104476286	29375609	35	20693											
ATP2A2	488	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	110783864	110783864	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr12:110783864G>C	ENST00000539276.2	+	19	2909	c.2800G>C	c.(2800-2802)Ggc>Cgc	p.G934R	ATP2A2_ENST00000395494.2_Missense_Mutation_p.G907R|ATP2A2_ENST00000308664.6_Missense_Mutation_p.G934R			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	934					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.G934R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTGGCTCGTGGGCTCCATCTG	0.592																																																1	Substitution - Missense(1)	kidney(1)											175	151	159					12																	110783864		2203	4300	6503	SO:0001583	missense	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2800G>C	12.37:g.110783864G>C	ENSP00000440045:p.Gly934Arg		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.13|19.13	3.767310|3.767310	0.69878|0.69878	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.96041	.|-3.89;-3.89;-3.89	6.17|6.17	6.17|6.17	0.99709|0.99709	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.97823|0.97823	0.9285|0.9285	M|M	0.90977|0.90977	3.165|3.165	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.59357	.|0.887;0.965;0.985	.|P;P;P	.|0.57371	.|0.664;0.723;0.819	D|D	0.96405|0.96405	0.9300|0.9300	6|10	.|0.25751	.|T	.|0.34	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|907;934;934	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	A|R	824|934;907;934	.|ENSP00000311186:G934R;ENSP00000378872:G907R;ENSP00000440045:G934R	.|ENSP00000311186:G934R	G|G	+|+	2|1	0|0	ATP2A2|ATP2A2	109268247|109268247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|GGC		0.592	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		C	110783864	G	C	110783864	3	2	371	1	0	0	0	0	1	0	0	0	1137	1232	43	4	2874	4	ATP2A2	12	110783864	Missense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08	6307578	110783864	23068031	36	20694											
BRCA2	675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32906553	32906553	+	Missense_Mutation	SNP	C	C	A	rs397507428		TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr13:32906553C>A	ENST00000380152.3	+	10	1171	c.938C>A	c.(937-939)tCt>tAt	p.S313Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.S313Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	313					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S313Y(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTATGTTTTTCTAAATGTAGA	0.303			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	2	Substitution - Missense(2)	kidney(2)											49	53	52					13																	32906553		2203	4289	6492	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.938C>A	13.37:g.32906553C>A	ENSP00000369497:p.Ser313Tyr		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	6.769	0.510876	0.12883	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00768	5.72;5.72	5.6	2.84	0.33178	.	1.387810	0.04415	N	0.366585	T	0.01029	0.0034	L	0.38175	1.15	0.09310	N	1	P;P	0.37398	0.593;0.593	B;B	0.37047	0.24;0.24	T	0.47873	-0.9083	10	0.62326	D	0.03	.	3.9912	0.09538	0.2606:0.4119:0.2535:0.074	.	313;313	P51587;A1YBP1	BRCA2_HUMAN;.	Y	313;313;311	ENSP00000369497:S313Y;ENSP00000439902:S313Y	ENSP00000369497:S313Y	S	+	2	0	BRCA2	31804553	0.002000	0.14202	0.036000	0.18154	0.206000	0.24218	0.349000	0.20055	0.269000	0.21961	-0.140000	0.14226	TCT		0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		A	32906553	C	A	32906553	3	1	371	1	0	0	0	0	1	0	0	0	1501	913	32	4	972	4	BRCA2	13	32906553	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08		32906553	82263325	37	20695											
DCT	1638	hgsc.bcm.edu;ucsc.edu	37	13	95092164	95092165	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr13:95092164_95092165delTG	ENST00000377028.5	-	8	1960_1961	c.1547_1548delCA	c.(1546-1548)acafs	p.T516fs	DCT_ENST00000446125.1_Frame_Shift_Del_p.T549fs	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	516					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGGCTTCTTCTGTGTATCTCTT	0.436																																																0																																										SO:0001589	frameshift_variant	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1547_1548delCA	13.37:g.95092166_95092167delTG	ENSP00000366227:p.Thr516fs		Q09GT4	Frame_Shift_Del	DEL	ENST00000377028.5	37	CCDS9470.1																																																																																				0.436	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			-	95092165	TG	-	95092164	7	5	371	1	0	1	0	1	0	0	0	0	4306	1567	55	0	15	0	DCT	13	95092164	Frame_Shift_Del	DEL	TG	TCGA-BP-4801-01A-02D-1421-08	62185611	95092164	20077714	38	20696											
GPR183	1880	hgsc.bcm.edu;ucsc.edu	37	13	99947650	99947652	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr13:99947650_99947652delAAT	ENST00000376414.4	-	2	831_833	c.748_750delATT	c.(748-750)attdel	p.I250del	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	250					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CAAACACAACAATAATAAGAATA	0.365																																																0																																										SO:0001651	inframe_deletion	1880			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.748_750delATT	13.37:g.99947653_99947655delAAT	ENSP00000365596:p.Ile250del		B2R8N5|Q53F99|Q5JUH7	In_Frame_Del	DEL	ENST00000376414.4	37	CCDS9492.1																																																																																				0.365	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		-	99947652	AAT	-	99947650	7	5	371	1	0	1	0	1	0	0	0	0	6680	126	5	0	339	0	GPR183	13	99947650	In_Frame_Del	DEL	AAT	TCGA-BP-4801-01A-02D-1421-08	4855486	99947650	15222228	39	20697											
C14orf174	161394	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77844922	77844922	+	Silent	SNP	C	C	T			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr14:77844922C>T	ENST00000216471.4	+	1	1447	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	387								p.I387I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACAGGAGATCAACCCACAAG	0.403																																																1	Substitution - coding silent(1)	kidney(1)											87	89	88					14																	77844922		2203	4300	6503	SO:0001819	synonymous_variant	161394			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1161C>T	14.37:g.77844922C>T			Q2M3P3	Silent	SNP	ENST00000216471.4	37	CCDS32126.1																																																																																				0.403	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		T	77844922	C	T	77844922	2	4	371	1	0	0	0	0	0	0	0	1	1761	816	29	2		2	C14orf174	14	77844922	Silent	SNP	C	TCGA-BP-4801-01A-02D-1421-08		77844922	29504618	40	20698											
SPRED1	161742	broad.mit.edu	37	15	38591664	38591664	+	Silent	SNP	C	C	T			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr15:38591664C>T	ENST00000299084.4	+	2	983	c.123C>T	c.(121-123)agC>agT	p.S41S	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	41	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.S41S(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GACTAAGCAGCGTCACTGTCT	0.458									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)											1	Substitution - coding silent(1)	kidney(1)											131	115	120					15																	38591664		2200	4297	6497	SO:0001819	synonymous_variant	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.123C>T	15.37:g.38591664C>T			B2RPJ8|Q05D53|Q8N256	Silent	SNP	ENST00000299084.4	37	CCDS32193.1																																																																																				0.458	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			T	38591664	C	T	38591664	2	4	371	1	0	0	0	0	0	0	0	1	15097	767	27	1		1	SPRED1	15	38591664	Silent	SNP	C	TCGA-BP-4801-01A-02D-1421-08		38591664	63939728	41	20699											
SHF	90525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45470431	45470431	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr15:45470431C>A	ENST00000560734.1	-	2	572	c.572G>T	c.(571-573)gGa>gTa	p.G191V	SHF_ENST00000560471.1_Missense_Mutation_p.G191V|SHF_ENST00000290894.8_Missense_Mutation_p.G126V|SHF_ENST00000560540.1_Missense_Mutation_p.G191V|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000318390.6_Missense_Mutation_p.G183V|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000561091.1_5'UTR					Src homology 2 domain containing F									p.G126V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		CTCTGGGGCTCCTGAAGCTCC	0.567																																																1	Substitution - Missense(1)	kidney(1)											71	66	68					15																	45470431		2198	4298	6496	SO:0001583	missense	90525			BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"SH2 domain containing"	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560734.1:c.572G>T	15.37:g.45470431C>A	ENSP00000453168:p.Gly191Val			Missense_Mutation	SNP	ENST00000560734.1	37		.	.	.	.	.	.	.	.	.	.	C	21.1	4.092537	0.76756	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390;ENST00000413198	T;T	0.31247	1.5;1.5	5.92	5.0	0.66597	.	0.364158	0.26048	N	0.026644	T	0.27524	0.0676	L	0.39898	1.24	0.54753	D	0.999985	B	0.15473	0.013	B	0.15870	0.014	T	0.03043	-1.1079	10	0.39692	T	0.17	-5.5913	14.2081	0.65748	0.1507:0.8493:0.0:0.0	.	126	Q7M4L6	SHF_HUMAN	V	126;126;183;116	ENSP00000290894:G126V;ENSP00000315978:G183V	ENSP00000290894:G126V	G	-	2	0	SHF	43257723	0.000000	0.05858	1.000000	0.80357	0.959000	0.62525	0.291000	0.18994	1.496000	0.48567	0.655000	0.94253	GGA		0.567	SHF-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000416338.1	NM_138356		A	45470431	C	A	45470431	3	1	371	1	0	0	0	0	1	0	0	0	14283	855	30	4	918	4	SHF	15	45470431	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08	6878767	45470431	57060961	42	20700											
FES	2242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91430480	91430480	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr15:91430480A>G	ENST00000328850.3	+	5	690	c.548A>G	c.(547-549)cAc>cGc	p.H183R	FES_ENST00000394302.1_Missense_Mutation_p.H125R|FES_ENST00000444422.2_Missense_Mutation_p.H183R|FES_ENST00000450438.2_Missense_Mutation_p.H125R|FES_ENST00000394300.3_Missense_Mutation_p.H125R|FES_ENST00000414248.2_Missense_Mutation_p.H125R	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	183	Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)	p.H183R(1)		lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTTGCTCACCACAACCGCTAT	0.617																																																1	Substitution - Missense(1)	kidney(1)											69	73	71					15																	91430480		2198	4298	6496	SO:0001583	missense	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.548A>G	15.37:g.91430480A>G	ENSP00000331504:p.His183Arg		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.356188	0.82243	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	4.81	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	M	0.74647	2.275	0.51012	D	0.999902	D;D;D;D;D;D	0.89917	1.0;0.984;0.973;1.0;0.994;1.0	D;D;D;D;D;D	0.91635	0.997;0.964;0.921;0.999;0.983;0.997	T	0.02404	-1.1164	10	0.87932	D	0	-38.8097	11.656	0.51318	0.8511:0.1489:0.0:0.0	.	165;125;125;125;183;183	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	R	183;125;125;183;125;125	ENSP00000331504:H183R;ENSP00000414629:H125R;ENSP00000377839:H125R;ENSP00000400868:H183R;ENSP00000377837:H125R;ENSP00000409915:H125R	ENSP00000331504:H183R	H	+	2	0	FES	89231484	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	6.978000	0.76147	0.699000	0.31761	0.454000	0.30748	CAC		0.617	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		G	91430480	A	G	91430480	3	3	371	1	0	0	0	0	1	0	0	0	5822	159	6	3	562	3	FES	15	91430480	Missense_Mutation	SNP	A	TCGA-BP-4801-01A-02D-1421-08	45960049	91430480	11100912	43	20701											
TSC2	7249	hgsc.bcm.edu	37	16	2126068	2126068	+	Splice_Site	SNP	G	G	A	rs397515203		TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr16:2126068G>A	ENST00000219476.3	+	24	3269		c.e24-1		TSC2_ENST00000382538.6_Splice_Site|TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000350773.4_Splice_Site|TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000439673.2_Splice_Site|TSC2_ENST00000401874.2_Splice_Site	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCTCATCTCAGGTTTAATCAG	0.552			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													98	84	89					16																	2126068		2198	4299	6497	SO:0001630	splice_region_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2640-1G>A	16.37:g.2126068G>A			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Splice_Site	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353457	0.61293	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5131	0.90925	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSC2	2066069	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	9.787000	0.99055	2.367000	0.80283	0.561000	0.74099	.		0.552	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	Intron	A	2126068	G	A	2126068	5	1	371	1	0	0	0	0	0	0	1	0	16611	1014	35	2	2729	2	TSC2	16	2126068	Splice_Site	SNP	G	TCGA-BP-4801-01A-02D-1421-08		2126068	88228685	44	20702	161	2									
TSC2	7249	hgsc.bcm.edu	37	16	2126070	2126070	+	Splice_Site	SNP	T	T	A	rs45463498|rs137854030		TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr16:2126070T>A	ENST00000219476.3	+	24	3271	c.2641T>A	c.(2641-2643)Ttt>Att	p.F881I	TSC2_ENST00000382538.6_Splice_Site_p.F832I|TSC2_ENST00000353929.4_Splice_Site_p.F881I|TSC2_ENST00000350773.4_Splice_Site_p.F881I|TSC2_ENST00000568454.1_Splice_Site_p.F892I|TSC2_ENST00000439673.2_Splice_Site_p.F844I|TSC2_ENST00000401874.2_Splice_Site_p.F881I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	881					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCATCTCAGGTTTAATCAGTA	0.542			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													99	85	90					16																	2126070		2198	4299	6497	SO:0001630	splice_region_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2640-1T>A	16.37:g.2126070T>A			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.888044	0.91814	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.09	5.09	0.68999	Tuberin-type domain (1);	0.000000	0.85682	D	0.000000	D	0.93304	0.7866	M	0.65498	2.005	0.80722	D	1	P;D;D;D;D;D	0.65815	0.909;0.984;0.971;0.971;0.995;0.994	P;P;P;P;D;D	0.75020	0.837;0.885;0.804;0.729;0.97;0.985	D	0.93831	0.7128	10	0.62326	D	0.03	-39.5133	14.8891	0.70594	0.0:0.0:0.0:1.0	.	832;844;881;881;881;881	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	I	881;881;881;844;832;881	ENSP00000219476:F881I;ENSP00000384468:F881I;ENSP00000248099:F881I;ENSP00000399232:F844I;ENSP00000371978:F832I;ENSP00000344383:F881I	ENSP00000219476:F881I	F	+	1	0	TSC2	2066071	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.975000	0.88055	1.919000	0.55581	0.459000	0.35465	TTT		0.542	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	Missense_Mutation	A	2126070	T	A	2126070	5	1	371	1	0	0	0	0	0	0	1	0	16611	1739	60	5	2731	5	TSC2	16	2126070	Splice_Site	SNP	T	TCGA-BP-4801-01A-02D-1421-08	2	2126070	88228683	45	20703	161	2									
GPRC5B	51704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	19883415	19883415	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr16:19883415C>T	ENST00000300571.2	-	2	944	c.753G>A	c.(751-753)atG>atA	p.M251I	GPRC5B_ENST00000535671.1_Missense_Mutation_p.M251I|GPRC5B_ENST00000537135.1_Missense_Mutation_p.M277I|GPRC5B_ENST00000569479.1_Missense_Mutation_p.M251I|GPRC5B_ENST00000569847.1_Missense_Mutation_p.M251I	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	251					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.M251I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGTACATGGTCATCCAGGCCA	0.607																																																1	Substitution - Missense(1)	kidney(1)											97	102	100					16																	19883415		2197	4300	6497	SO:0001583	missense	51704			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.753G>A	16.37:g.19883415C>T	ENSP00000300571:p.Met251Ile		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	0.550	-0.849735	0.02651	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.85339	-1.97;-1.97;-1.97	5.44	-0.136	0.13473	GPCR, family 3, C-terminal (2);	0.343111	0.34652	N	0.003792	T	0.67487	0.2898	N	0.11154	0.105	0.37915	D	0.931484	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.53337	-0.8453	9	.	.	.	.	12.0003	0.53226	0.0:0.4633:0.471:0.0658	.	277;251	B7Z831;Q9NZH0	.;GPC5B_HUMAN	I	251;251;100;277	ENSP00000300571:M251I;ENSP00000442858:M251I;ENSP00000441775:M277I	.	M	-	3	0	GPRC5B	19790916	1.000000	0.71417	0.980000	0.43619	0.888000	0.51559	1.127000	0.31357	-0.107000	0.12088	-0.961000	0.02630	ATG		0.607	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			T	19883415	C	T	19883415	3	4	371	1	0	0	0	0	1	0	0	0	6727	826	29	2	470	2	GPRC5B	16	19883415	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08	17757345	19883415	70471338	46	20704											
IL21R	50615	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27460474	27460474	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr16:27460474G>T	ENST00000337929.3	+	9	1960	c.1487G>T	c.(1486-1488)gGc>gTc	p.G496V	IL21R_ENST00000564089.1_Missense_Mutation_p.G496V|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.G496V|IL21R_ENST00000395755.1_Missense_Mutation_p.G496V	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	496					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.G496V(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGCTTTGTGGGCTCTGACTGC	0.667			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	1	Substitution - Missense(1)	kidney(1)											50	44	46					16																	27460474		2197	4299	6496	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1487G>T	16.37:g.27460474G>T	ENSP00000338010:p.Gly496Val		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925061	0.73213	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.24538	1.85;1.85;1.85	4.9	3.93	0.45458	.	0.168550	0.41605	D	0.000858	T	0.41858	0.1177	L	0.56769	1.78	0.58432	D	0.999995	D	0.76494	0.999	D	0.71870	0.975	T	0.22941	-1.0202	10	0.59425	D	0.04	-27.6999	8.053	0.30589	0.1175:0.0:0.8825:0.0	.	496	Q9HBE5	IL21R_HUMAN	V	496	ENSP00000338010:G496V;ENSP00000379104:G496V;ENSP00000379103:G496V	ENSP00000338010:G496V	G	+	2	0	IL21R	27367975	1.000000	0.71417	0.969000	0.41365	0.949000	0.60115	2.113000	0.41902	1.020000	0.39573	0.561000	0.74099	GGC		0.667	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		T	27460474	G	T	27460474	3	4	371	1	0	0	0	0	1	0	0	0	7673	1203	42	4	1517	4	IL21R	16	27460474	Missense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08	7577059	27460474	62894279	47	20705											
TSR1	55720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	2238674	2238674	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr17:2238674C>A	ENST00000301364.5	-	4	1515	c.436G>T	c.(436-438)Gtg>Ttg	p.V146L	SGSM2_ENST00000574563.1_5'Flank|TSR1_ENST00000576112.2_Missense_Mutation_p.V146L|SGSM2_ENST00000426855.2_5'Flank|SGSM2_ENST00000268989.3_5'Flank	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	146	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.V146L(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						ATGTCTAACACAACGTGCAGA	0.438																																																1	Substitution - Missense(1)	kidney(1)											101	88	92					17																	2238674		2203	4300	6503	SO:0001583	missense	55720			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.436G>T	17.37:g.2238674C>A	ENSP00000301364:p.Val146Leu		Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	C	4.704	0.130859	0.08981	.	.	ENSG00000167721	ENST00000301364	T	0.41400	1.0	5.84	-0.145	0.13436	.	0.343565	0.29995	N	0.010661	T	0.22085	0.0532	N	0.17764	0.52	0.30016	N	0.814784	B	0.06786	0.001	B	0.10450	0.005	T	0.16571	-1.0398	10	0.20519	T	0.43	-4.7494	7.8853	0.29646	0.1099:0.3758:0.4482:0.0661	.	146	Q2NL82	TSR1_HUMAN	L	146	ENSP00000301364:V146L	ENSP00000301364:V146L	V	-	1	0	TSR1	2185424	0.897000	0.30589	0.947000	0.38551	0.301000	0.27625	0.789000	0.26886	0.325000	0.23359	-0.181000	0.13052	GTG		0.438	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		A	2238674	C	A	2238674	3	1	371	1	0	0	0	0	1	0	0	0	16669	478	17	4	2026	4	TSR1	17	2238674	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08		2238674	78956536	48	20706											
MIS12	79003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5392574	5392574	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr17:5392574A>C	ENST00000381165.3	+	3	945	c.392A>C	c.(391-393)gAa>gCa	p.E131A	DERL2_ENST00000571968.1_5'Flank|MIS12_ENST00000573759.1_Missense_Mutation_p.E131A	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component									p.E131A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						TACAAGACTGAATTATGTACT	0.373																																																1	Substitution - Missense(1)	kidney(1)											110	106	107					17																	5392574		2203	4300	6503	SO:0001583	missense	79003			AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"MIS12, MIND kinetochore complex component, homolog (yeast)", "MIS12, MIND kinetochore complex component, homolog (S. pombe)"			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.392A>C	17.37:g.5392574A>C	ENSP00000370557:p.Glu131Ala			Missense_Mutation	SNP	ENST00000381165.3	37	CCDS11074.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518962	0.85495	.	.	ENSG00000167842	ENST00000381165	T	0.52057	0.68	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	L	0.55481	1.735	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.65705	-0.6103	10	0.56958	D	0.05	-9.9653	15.8323	0.78764	1.0:0.0:0.0:0.0	.	131	Q9H081	MIS12_HUMAN	A	131	ENSP00000370557:E131A	ENSP00000370557:E131A	E	+	2	0	MIS12	5333298	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	7.942000	0.87708	2.333000	0.79357	0.482000	0.46254	GAA		0.373	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039		C	5392574	A	C	5392574	3	2	371	1	0	0	0	0	1	0	0	0	9596	246	9	5	394	5	MIS12	17	5392574	Missense_Mutation	SNP	A	TCGA-BP-4801-01A-02D-1421-08	3153900	5392574	75802636	49	20707											
TOP3A	7156	hgsc.bcm.edu;ucsc.edu	37	17	18178133	18178133	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr17:18178133delA	ENST00000321105.5	-	19	3203	c.2989delT	c.(2989-2991)tgtfs	p.C997fs	TOP3A_ENST00000542570.1_Frame_Shift_Del_p.C902fs|TOP3A_ENST00000540524.1_Frame_Shift_Del_p.C527fs	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	997					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTCTGAGGACAAAAGGGACGG	0.542																																																0													119	105	110					17																	18178133		2203	4300	6503	SO:0001589	frameshift_variant	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2989delT	17.37:g.18178133delA	ENSP00000321636:p.Cys997fs		A8KA61|B4DK80|D3DXC7|Q13473	Frame_Shift_Del	DEL	ENST00000321105.5	37	CCDS11194.1																																																																																				0.542	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			-	18178133	A	-	18178133	7	5	371	1	0	1	0	1	0	0	0	0	16372	130	5	0	20	0	TOP3A	17	18178133	Frame_Shift_Del	DEL	A	TCGA-BP-4801-01A-02D-1421-08	12785559	18178133	63017077	50	20708											
ASB16	92591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42249679	42249679	+	Silent	SNP	G	G	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr17:42249679G>A	ENST00000293414.1	+	2	651	c.567G>A	c.(565-567)ttG>ttA	p.L189L		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	189					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L189L(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCGAGTCCTTGCAGTAGGTGC	0.572																																																1	Substitution - coding silent(1)	kidney(1)											51	46	48					17																	42249679		2203	4300	6503	SO:0001819	synonymous_variant	92591			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.567G>A	17.37:g.42249679G>A			B2RBC0|Q8WXK0	Silent	SNP	ENST00000293414.1	37	CCDS11478.1																																																																																				0.572	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			A	42249679	G	A	42249679	2	1	371	1	0	0	0	0	0	0	0	1	1020	1310	46	2		2	ASB16	17	42249679	Silent	SNP	G	TCGA-BP-4801-01A-02D-1421-08	24071546	42249679	38945531	51	20709											
OSBPL7	114881	broad.mit.edu	37	17	45891939	45891939	+	Silent	SNP	G	G	C			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr17:45891939G>C	ENST00000007414.3	-	14	1490	c.1299C>G	c.(1297-1299)acC>acG	p.T433T	OSBPL7_ENST00000392507.3_Silent_p.T433T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	433					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.T433T(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CAGACAGGCTGGTGGTGATTT	0.657																																																1	Substitution - coding silent(1)	kidney(1)											70	57	61					17																	45891939		2203	4300	6503	SO:0001819	synonymous_variant	114881			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1299C>G	17.37:g.45891939G>C			D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	CCDS11515.1																																																																																				0.657	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		C	45891939	G	C	45891939	2	2	371	1	0	0	0	0	0	0	0	1	11284	1335	47	4		4	OSBPL7	17	45891939	Silent	SNP	G	TCGA-BP-4801-01A-02D-1421-08	3642260	45891939	35303271	52	20710											
RAB40B	10966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80622419	80622419	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr17:80622419C>A	ENST00000571995.1	-	2	287	c.156G>T	c.(154-156)aaG>aaT	p.K52N	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Missense_Mutation_p.K52N	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	52					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.K52N(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TGGTGGTCGTCTTGTAGTCGA	0.617																																																1	Substitution - Missense(1)	kidney(1)											111	97	102					17																	80622419		2203	4300	6503	SO:0001583	missense	10966			U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"RAB, member RAS oncogene"	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.156G>T	17.37:g.80622419C>A	ENSP00000461785:p.Lys52Asn		Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	37	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903948	0.52333	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	3.97	1.94	0.25998	Small GTP-binding protein domain (1);	0.087971	0.42821	U	0.000642	T	0.74951	0.3784	M	0.77486	2.375	0.49687	D	0.999814	D	0.54397	0.966	D	0.66979	0.948	T	0.75260	-0.3380	9	0.87932	D	0	.	9.7918	0.40710	0.0:0.8231:0.0:0.1769	.	52	Q12829	RB40B_HUMAN	N	52;86	.	ENSP00000269347:K52N	K	-	3	2	RAB40B	78215708	0.966000	0.33281	0.996000	0.52242	0.729000	0.41735	0.205000	0.17356	0.420000	0.25954	-0.266000	0.10368	AAG		0.617	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			A	80622419	C	A	80622419	3	1	371	1	0	0	0	0	1	0	0	0	12947	912	32	4	700	4	RAB40B	17	80622419	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08	34730480	80622419	572791	53	20711											
MRO	83876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	48335764	48335764	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr18:48335764G>T	ENST00000428869.2	-	4	265	c.7C>A	c.(7-9)Caa>Aaa	p.Q3K	MRO_ENST00000587291.1_Intron|MRO_ENST00000398439.3_Missense_Mutation_p.Q3K|MRO_ENST00000431965.2_Intron|MRO_ENST00000256425.2_Missense_Mutation_p.Q3K|MRO_ENST00000436348.2_Intron|MRO_ENST00000588444.1_Missense_Mutation_p.Q3K			Q9BYG7	MSTRO_HUMAN	maestro	3						nucleolus (GO:0005730)		p.Q3K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTCTGTCTTTGGTCCATGGAA	0.433																																																1	Substitution - Missense(1)	kidney(1)											84	78	80					18																	48335764		2203	4300	6503	SO:0001583	missense	83876			AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"maestro heat-like repeat containing"	24121	protein-coding gene	gene with protein product	"B29 protein", "beside the Ma29 deletion"	608080	"chromosome 18 open reading frame 3"	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.7C>A	18.37:g.48335764G>T	ENSP00000409509:p.Gln3Lys		B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	CCDS11947.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801683	0.50315	.	.	ENSG00000134042	ENST00000428869;ENST00000398439;ENST00000256425	T;T;T	0.15718	2.4;2.4;2.4	5.24	4.31	0.51392	.	1.272030	0.05949	N	0.638344	T	0.44561	0.1299	M	0.78223	2.4	0.24338	N	0.994977	P;D	0.67145	0.587;0.996	B;D	0.72982	0.266;0.979	T	0.16571	-1.0398	10	0.46703	T	0.11	.	10.9695	0.47431	0.0:0.1889:0.811:0.0	.	3;3	E9PFU2;Q9BYG7	.;MSTRO_HUMAN	K	3	ENSP00000409509:Q3K;ENSP00000381465:Q3K;ENSP00000256425:Q3K	ENSP00000256425:Q3K	Q	-	1	0	MRO	46589762	0.974000	0.33945	0.987000	0.45799	0.776000	0.43924	1.394000	0.34509	2.473000	0.83533	0.650000	0.86243	CAA		0.433	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		T	48335764	G	T	48335764	3	4	371	1	0	0	0	0	1	0	0	0	9774	1357	47	4	763	4	MRO	18	48335764	Missense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08		48335764	29741484	54	20712											
LMAN1	3998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	57013225	57013225	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr18:57013225T>C	ENST00000251047.5	-	8	1598	c.881A>G	c.(880-882)gAg>gGg	p.E294G	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	294					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.E294G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TTGAAAGTGCTCAAATTCCTC	0.398																																																1	Substitution - Missense(1)	kidney(1)											137	139	138					18																	57013225		2203	4300	6503	SO:0001583	missense	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.881A>G	18.37:g.57013225T>C	ENSP00000251047:p.Glu294Gly		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.026272	0.93518	.	.	ENSG00000074695	ENST00000251047	D	0.99462	-5.94	5.71	5.71	0.89125	.	0.151252	0.64402	D	0.000019	D	0.99121	0.9697	L	0.59436	1.845	0.80722	D	1	D	0.62365	0.991	P	0.56700	0.804	D	0.99360	1.0917	10	0.54805	T	0.06	-26.6017	15.6453	0.77042	0.0:0.0:0.0:1.0	.	294	P49257	LMAN1_HUMAN	G	294	ENSP00000251047:E294G	ENSP00000251047:E294G	E	-	2	0	LMAN1	55164205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.665000	0.83852	2.178000	0.69098	0.533000	0.62120	GAG		0.398	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		C	57013225	T	C	57013225	3	2	371	1	0	0	0	0	1	0	0	0	8838	1551	54	3	675	3	LMAN1	18	57013225	Missense_Mutation	SNP	T	TCGA-BP-4801-01A-02D-1421-08	8677461	57013225	21064023	55	20713											
CACNA1A	773	hgsc.bcm.edu;ucsc.edu	37	19	13566012	13566013	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr19:13566012_13566013delAT	ENST00000360228.5	-	2	306_307	c.307_308delAT	c.(307-309)atgfs	p.M103fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.M103fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	103					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCTAAAATCATATATTCAAAG	0.48																																																0																																										SO:0001589	frameshift_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.307_308delAT	19.37:g.13566016_13566017delAT	ENSP00000353362:p.Met103fs		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Del	DEL	ENST00000360228.5	37	CCDS45998.1																																																																																				0.48	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		-	13566013	AT	-	13566012	7	5	371	1	0	1	0	1	0	0	0	0	2540	217	8	0	7510	0	CACNA1A	19	13566012	Frame_Shift_Del	DEL	AT	TCGA-BP-4801-01A-02D-1421-08		13566012	45562971	56	20714											
COPE	11316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19014155	19014155	+	Silent	SNP	G	G	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr19:19014155G>A	ENST00000262812.4	-	7	705	c.657C>T	c.(655-657)ctC>ctT	p.L219L	COPE_ENST00000349893.4_Intron|COPE_ENST00000600932.1_Silent_p.L242L|COPE_ENST00000351079.4_Silent_p.L168L|COPE_ENST00000598969.1_5'UTR	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	219					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.L219L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						CCTGCCCATTGAGCAGCAGCA	0.647																																																1	Substitution - coding silent(1)	kidney(1)											53	46	48					19																	19014155		2203	4300	6503	SO:0001819	synonymous_variant	11316			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.657C>T	19.37:g.19014155G>A			A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Silent	SNP	ENST00000262812.4	37	CCDS12387.1																																																																																				0.647	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	NM_007263		A	19014155	G	A	19014155	2	1	371	1	0	0	0	0	0	0	0	1	3732	1277	45	2		2	COPE	19	19014155	Silent	SNP	G	TCGA-BP-4801-01A-02D-1421-08	5448143	19014155	40114828	57	20715											
PSG6	5675	broad.mit.edu;hgsc.bcm.edu	37	19	43415010	43415010	+	Splice_Site	SNP	G	G	A	rs186311462	byFrequency	TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr19:43415010G>A	ENST00000292125.2	-	3	472	c.428C>T	c.(427-429)tCg>tTg	p.S143L	PSG6_ENST00000187910.2_Splice_Site_p.S143L|PSG6_ENST00000402603.4_Splice_Site_p.S143L	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	143	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S143L(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGGAGTCTCCGCTGTGCAGAA	0.527													.|||	2	0.000399361	0.0	0.0014	5008	,	,		19656	0.001		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(1)|endometrium(1)											122	124	123					19																	43415010		2201	4298	6499	SO:0001630	splice_region_variant	5675				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.428-1C>T	19.37:g.43415010G>A			O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	5	0.0022893772893772895	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	0	0.0	N	0.448	-0.895161	0.02491	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.31510	1.49;1.83;1.51	1.64	-3.28	0.05033	.	.	.	.	.	T	0.03695	0.0105	N	0.00170	-1.935	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.31475	-0.9942	9	0.30854	T	0.27	.	6.1077	0.20084	0.3266:0.0:0.6734:0.0	.	143;143;143	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	L	143	ENSP00000187910:S143L;ENSP00000385736:S143L;ENSP00000292125:S143L	ENSP00000187910:S143L	S	-	2	0	PSG6	48106850	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-1.316000	0.02710	-0.994000	0.03463	-1.441000	0.01070	TCG		0.527	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782	Missense_Mutation	A	43415010	G	A	43415010	5	1	371	1	0	0	0	0	0	0	1	0	12664	1101	38	1	934	1	PSG6	19	43415010	Splice_Site	SNP	G	TCGA-BP-4801-01A-02D-1421-08	24400855	43415010	15713973	58	20716											
SIRPA	140885	hgsc.bcm.edu	37	20	1895842	1895842	+	Silent	SNP	T	T	C	rs17853847	byFrequency	TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr20:1895842T>C	ENST00000358771.4	+	2	329	c.177T>C	c.(175-177)tcT>tcC	p.S59S	SIRPA_ENST00000400068.3_Silent_p.S59S|SIRPA_ENST00000356025.3_Silent_p.S59S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	59	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CTGCGACCTCTCTGATCCCTG	0.582													T|||	1687	0.336861	0.1982	0.3631	5008	,	,		12012	0.5506		0.2604	False		,,,				2504	0.364				GBM(155;1668 1920 5945 42733 48121)											0								T	,,	134,4184		5,124,2030	56	49	51		177,177,177	0.8	0	20	dbSNP_123	51	424,7940		16,392,3774	no	coding-synonymous,coding-synonymous,coding-synonymous	SIRPA	NM_001040022.1,NM_001040023.1,NM_080792.2	,,	21,516,5804	CC,CT,TT		5.0693,3.1033,4.3999	,,	59/505,59/505,59/505	1895842	558,12124	2159	4182	6341	SO:0001819	synonymous_variant	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.177T>C	20.37:g.1895842T>C			A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	CCDS13022.1																																																																																				0.582	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		C	1895842	T	C	1895842	2	2	371	1	0	0	0	0	0	0	0	1	14338	1538	54	3		3	SIRPA	20	1895842	Silent	SNP	T	TCGA-BP-4801-01A-02D-1421-08		1895842	61129678	59	20717											
EDEM2	55741	broad.mit.edu;hgsc.bcm.edu	37	20	33703674	33703674	+	Silent	SNP	A	A	C			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr20:33703674A>C	ENST00000374492.3	-	11	1404	c.1299T>G	c.(1297-1299)acT>acG	p.T433T	EDEM2_ENST00000374491.3_Silent_p.T396T|EDEM2_ENST00000541621.1_Silent_p.T212T|SNORD56_ENST00000364281.1_RNA|EDEM2_ENST00000542871.1_Silent_p.T157T	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	433					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T433T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGTATTTCACAGTCTCGGCCA	0.537																																					Esophageal Squamous(51;906 1021 24535 36410 39145)											1	Substitution - coding silent(1)	kidney(1)											71	68	69					20																	33703674		2203	4300	6503	SO:0001819	synonymous_variant	55741			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1299T>G	20.37:g.33703674A>C			B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Silent	SNP	ENST00000374492.3	37	CCDS13247.1																																																																																				0.537	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		C	33703674	A	C	33703674	2	2	371	1	0	0	0	0	0	0	0	1	4914	175	7	5		5	EDEM2	20	33703674	Silent	SNP	A	TCGA-BP-4801-01A-02D-1421-08	31807832	33703674	29321846	60	20718											
KIAA1755	85449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	36869596	36869596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr20:36869596C>A	ENST00000279024.4	-	3	1208	c.937G>T	c.(937-939)Gaa>Taa	p.E313*		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	313								p.E313*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AAGGGAGTTTCCTTAGTTCCA	0.517																																																1	Substitution - Nonsense(1)	kidney(1)											132	142	138					20																	36869596		2203	4300	6503	SO:0001587	stop_gained	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.937G>T	20.37:g.36869596C>A	ENSP00000279024:p.Glu313*		Q9C0A8	Nonsense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	37	6.103826	0.97286	.	.	ENSG00000149633	ENST00000279024	.	.	.	5.07	3.06	0.35304	.	0.943820	0.08795	N	0.892589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	5.5199	0.16927	0.1981:0.7026:0.0:0.0993	.	.	.	.	X	313	.	ENSP00000279024:E313X	E	-	1	0	KIAA1755	36303010	0.002000	0.14202	0.457000	0.27056	0.181000	0.23173	0.370000	0.20433	2.629000	0.89072	0.655000	0.94253	GAA		0.517	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		A	36869596	C	A	36869596	4	1	371	1	0	0	0	0	0	1	0	0	8259	864	30	4	2713	4	KIAA1755	20	36869596	Nonsense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08	3165922	36869596	26155924	61	20719											
PLTP	5360	broad.mit.edu	37	20	44534935	44534935	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr20:44534935G>A	ENST00000477313.1	-	7	1271	c.677C>T	c.(676-678)tCc>tTc	p.S226F	PLTP_ENST00000420868.2_Missense_Mutation_p.S131F|PLTP_ENST00000542937.1_Missense_Mutation_p.S246F|PLTP_ENST00000354050.4_Missense_Mutation_p.S174F|PLTP_ENST00000372431.3_Missense_Mutation_p.S226F|PLTP_ENST00000372420.1_Missense_Mutation_p.S138F			P55058	PLTP_HUMAN	phospholipid transfer protein	226					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.S226F(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GTTGCTGGTGGAAGCCACAGG	0.527																																																1	Substitution - Missense(1)	kidney(1)											104	81	89					20																	44534935		2203	4300	6503	SO:0001583	missense	5360			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.677C>T	20.37:g.44534935G>A	ENSP00000417138:p.Ser226Phe		A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794838	0.90453	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44;3.44	5.4	5.4	0.78164	Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.051523	0.85682	D	0.000000	T	0.24586	0.0596	M	0.68952	2.095	0.58432	D	0.999999	D;D;D;D;D;D;D	0.71674	0.998;0.998;0.997;0.997;0.998;0.997;0.997	D;D;P;P;D;P;P	0.67725	0.938;0.938;0.898;0.898;0.953;0.898;0.898	T	0.00076	-1.2118	10	0.87932	D	0	-33.2314	19.359	0.94428	0.0:0.0:1.0:0.0	.	131;131;138;226;174;226;246	E7EV16;B4DRB4;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;.;PLTP_HUMAN;.	F	138;226;174;226;246;131	ENSP00000361497:S138F;ENSP00000361508:S226F;ENSP00000335290:S174F;ENSP00000417138:S226F;ENSP00000440296:S246F;ENSP00000411671:S131F	ENSP00000335290:S174F	S	-	2	0	PLTP	43968342	1.000000	0.71417	0.359000	0.25824	0.990000	0.78478	8.544000	0.90654	2.811000	0.96726	0.555000	0.69702	TCC		0.527	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		A	44534935	G	A	44534935	3	1	371	1	0	0	0	0	1	0	0	0	12116	1174	41	2	840	2	PLTP	20	44534935	Missense_Mutation	SNP	G	TCGA-BP-4801-01A-02D-1421-08	7665339	44534935	18490585	62	20720											
CECR1	51816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	17672628	17672628	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr22:17672628A>C	ENST00000399839.1	-	5	1096	c.826T>G	c.(826-828)Ttt>Gtt	p.F276V	CECR1_ENST00000399837.2_Missense_Mutation_p.F276V|CECR1_ENST00000262607.3_Missense_Mutation_p.F276V|CECR1_ENST00000449907.2_Missense_Mutation_p.F234V|CECR1_ENST00000330232.4_Missense_Mutation_p.F35V|CECR1_ENST00000480276.1_5'UTR	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	276					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)	p.F35V(1)|p.F276V(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GTTTCCACAAACTTCTGAGCT	0.473																																																2	Substitution - Missense(2)	kidney(2)											168	165	166					22																	17672628		2203	4300	6503	SO:0001583	missense	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.826T>G	22.37:g.17672628A>C	ENSP00000382733:p.Phe276Val		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631828	0.87660	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	3.58	3.58	0.41010	Adenosine/AMP deaminase (1);	0.136815	0.52532	U	0.000064	D	0.90943	0.7153	M	0.86805	2.84	0.58432	D	0.999992	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.976	D	0.91750	0.5411	10	0.87932	D	0	.	11.0296	0.47765	1.0:0.0:0.0:0.0	.	276;35	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	V	276;35;276;234;276	ENSP00000382733:F276V;ENSP00000332871:F35V;ENSP00000262607:F276V;ENSP00000406443:F234V;ENSP00000382731:F276V	ENSP00000262607:F276V	F	-	1	0	CECR1	16052628	1.000000	0.71417	0.020000	0.16555	0.720000	0.41350	7.195000	0.77798	1.393000	0.46605	0.260000	0.18958	TTT		0.473	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			C	17672628	A	C	17672628	3	2	371	1	0	0	0	0	1	0	0	0	3207	43	2	5	733	5	CECR1	22	17672628	Missense_Mutation	SNP	A	TCGA-BP-4801-01A-02D-1421-08		17672628	33631938	63	20721											
EWSR1	2130	broad.mit.edu;hgsc.bcm.edu	37	22	29686417	29686417	+	Intron	SNP	C	C	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr22:29686417C>A	ENST00000397938.2	+	9	1293				EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000333395.6_Missense_Mutation_p.S330R|EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000406548.1_Intron|EWSR1_ENST00000414183.2_Intron	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S330R(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAAGTGAGAGCCTTGTATACA	0.388			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	1	Substitution - Missense(1)	kidney(1)											62	53	55					22																	29686417		1568	3582	5150	SO:0001627	intron_variant	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.975-1134C>A	22.37:g.29686417C>A			B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.334977	0.41398	.	.	ENSG00000182944	ENST00000333395	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.74382	0.3709	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.53912	0.737	T	0.77480	-0.2572	7	0.72032	D	0.01	.	19.4102	0.94670	0.0:1.0:0.0:0.0	.	330	Q9BWA2	.	R	330	.	ENSP00000327456:S330R	S	+	3	2	EWSR1	28016417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.599000	0.87857	0.655000	0.94253	AGC		0.388	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		A	29686417	C	A	29686417	1	1	371	0	1	0	0	0	0	0	0	0	5298	738	26	4		4	EWSR1	22	29686417	Intron	SNP	C	TCGA-BP-4801-01A-02D-1421-08	12013789	29686417	21618149	64	20722											
BRD1	23774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50191673	50191673	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chr22:50191673C>G	ENST00000216267.8	-	5	2364	c.1878G>C	c.(1876-1878)gaG>gaC	p.E626D	BRD1_ENST00000457780.2_Missense_Mutation_p.E626D|BRD1_ENST00000404760.1_Missense_Mutation_p.E626D|BRD1_ENST00000342989.5_Missense_Mutation_p.E221D|BRD1_ENST00000542442.1_Missense_Mutation_p.E314D|BRD1_ENST00000404034.1_Missense_Mutation_p.E626D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	626	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.E626D(1)|p.E221D(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCTCCTCAAACTCATGGAGGT	0.438																																																2	Substitution - Missense(2)	kidney(2)											111	107	108					22																	50191673		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1878G>C	22.37:g.50191673C>G	ENSP00000216267:p.Glu626Asp		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523816	0.27299	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.44	2.11	0.27256	Bromodomain (6);Bromodomain, conserved site (1);	0.103153	0.64402	D	0.000004	T	0.17662	0.0424	N	0.21097	0.63	0.47407	D	0.999412	P;B;P;P	0.46578	0.88;0.003;0.658;0.854	B;B;B;B	0.43728	0.429;0.01;0.352;0.303	T	0.06698	-1.0812	10	0.12430	T	0.62	.	6.6278	0.22839	0.0:0.6146:0.1195:0.266	.	626;221;626;626	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	D	626;626;626;626;314;221;86	ENSP00000216267:E626D;ENSP00000384076:E626D;ENSP00000385858:E626D;ENSP00000410042:E626D;ENSP00000437514:E314D;ENSP00000345886:E221D	ENSP00000216267:E626D	E	-	3	2	BRD1	48577677	0.959000	0.32827	0.997000	0.53966	0.999000	0.98932	0.136000	0.15974	0.641000	0.30601	0.655000	0.94253	GAG		0.438	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		G	50191673	C	G	50191673	3	3	371	1	0	0	0	0	1	0	0	0	1503	564	20	4	1330	4	BRD1	22	50191673	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08	20505256	50191673	1112893	65	20723											
G6PD	2539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153762612	153762612	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4801-01A-02D-1421-08	TCGA-BP-4801-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d3e62cb1-5ced-42cb-a360-479ee01877aa	8e5edfea-ec07-46dd-824f-6b0ea9a34e3e	g.chrX:153762612C>A	ENST00000393564.2	-	6	697	c.585G>T	c.(583-585)caG>caT	p.Q195H	G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000393562.2_Missense_Mutation_p.Q225H|G6PD_ENST00000369620.2_Missense_Mutation_p.Q195H	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	195					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.Q195H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCGGTAGATCTGGTCCTCAC	0.637																																																1	Substitution - Missense(1)	kidney(1)											98	81	87					X																	153762612		2203	4300	6503	SO:0001583	missense	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.585G>T	X.37:g.153762612C>A	ENSP00000377194:p.Gln195His		D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946008	0.73672	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.65	4.78	0.61160	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.99113	1.0847	10	0.72032	D	0.01	.	11.696	0.51544	0.0:0.9096:0.0:0.0904	.	195;225	P11413;P11413-3	G6PD_HUMAN;.	H	225;195;195;195;196;196;195	ENSP00000377192:Q225H;ENSP00000377194:Q195H;ENSP00000358633:Q195H;ENSP00000395599:Q196H;ENSP00000400648:Q196H;ENSP00000394690:Q195H	ENSP00000291567:Q195H	Q	-	3	2	G6PD	153415806	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.474000	0.45154	2.361000	0.80049	0.513000	0.50165	CAG		0.637	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		A	153762612	C	A	153762612	3	1	371	1	0	0	0	0	1	0	0	0	6148	912	32	4	994	4	G6PD	23	153762612	Missense_Mutation	SNP	C	TCGA-BP-4801-01A-02D-1421-08		153762612	1507948	66	20724											
WT1	7490	hgsc.bcm.edu	37	11	32456513	32456514	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-BP-4803-01A-01W-1369-10	TCGA-BP-4803-11A-01W-1369-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	730d4208-4bcf-46c4-bdc1-706b003eda3d	5d0ee48f-c925-437e-b9ba-d2cfb57846a2	g.chr11:32456513_32456514delCC	ENST00000332351.3	-	1	662_663	c.378_379delGG	c.(376-381)ccggctfs	p.A127fs	WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000494911.1_RNA|WT1_ENST00000448076.3_Frame_Shift_Del_p.A127fs|WT1-AS_ENST00000459866.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	59					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ggcggcggagccggtggcggcg	0.767			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	0																																										SO:0001589	frameshift_variant	7490	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.378_379delGG	11.37:g.32456513_32456514delCC	ENSP00000331327:p.Ala127fs		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Del	DEL	ENST00000332351.3	37	CCDS7878.2																																																																																				0.767	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2	NM_000378		-	32456514	CC	-	32456513	7	5	372	1	0	1	0	1	0	0	0	0	17413	739	26	0	1214	0	WT1	11	32456513	Frame_Shift_Del	DEL	CC	TCGA-BP-4803-01A-01W-1369-10		32456513	102550003	1	20725											
KANK4	163782	hgsc.bcm.edu	37	1	62740072	62740072	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr1:62740072G>A	ENST00000371153.4	-	3	1082	c.704C>T	c.(703-705)cCa>cTa	p.P235L	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	235	Pro-rich.					cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CACACCCTCTGGAGGCTCAGC	0.547																																																0													48	45	46					1																	62740072		2203	4300	6503	SO:0001583	missense	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.704C>T	1.37:g.62740072G>A	ENSP00000360195:p.Pro235Leu		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	G	9.583	1.124226	0.20959	.	.	ENSG00000132854	ENST00000371153	T	0.46451	0.87	4.75	-2.9	0.05648	.	1.476840	0.04596	N	0.397601	T	0.29914	0.0748	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14420	-1.0473	10	0.28530	T	0.3	1.3222	1.3702	0.02209	0.2369:0.1095:0.1884:0.4652	.	235	Q5T7N3	KANK4_HUMAN	L	235	ENSP00000360195:P235L	ENSP00000360195:P235L	P	-	2	0	KANK4	62512660	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.215000	0.09279	-0.328000	0.08539	-0.372000	0.07161	CCA		0.547	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		A	62740072	G	A	62740072	3	1	373	1	0	0	0	0	1	0	0	0	7981	1348	47	2	2315	2	KANK4	1	62740072	Missense_Mutation	SNP	G	TCGA-BP-4804-01A-02D-1373-10		62740072	186510549	1	20726											
SEMA6C	10500	hgsc.bcm.edu	37	1	151112489	151112489	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr1:151112489A>G	ENST00000341697.3	-	4	1887	c.196T>C	c.(196-198)Ttc>Ctc	p.F66L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	66	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGGTCAGGAATCTCTGAAAG	0.567																																																0													89	63	72					1																	151112489		2203	4300	6503	SO:0001583	missense	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.196T>C	1.37:g.151112489A>G	ENSP00000344148:p.Phe66Leu		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085406	0.76642	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.16196	2.36;2.57;2.37;2.36	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.162902	0.52532	N	0.000072	T	0.10337	0.0253	N	0.11427	0.14	0.33556	D	0.596708	B;D;B;D	0.59357	0.018;0.982;0.04;0.985	B;D;B;D	0.72338	0.055;0.961;0.032;0.977	T	0.17837	-1.0356	10	0.23302	T	0.38	.	10.595	0.45331	1.0:0.0:0.0:0.0	.	66;66;66;66	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	L	66	ENSP00000357910:F66L;ENSP00000357908:F66L;ENSP00000357909:F66L;ENSP00000344148:F66L	ENSP00000344148:F66L	F	-	1	0	SEMA6C	149379113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.149000	0.58091	2.016000	0.59253	0.459000	0.35465	TTC		0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		G	151112489	A	G	151112489	3	3	373	1	0	0	0	0	1	0	0	0	14047	101	4	3	2760	3	SEMA6C	1	151112489	Missense_Mutation	SNP	A	TCGA-BP-4804-01A-02D-1373-10	88372417	151112489	98138132	2	20727											
UBAP2L	9898	hgsc.bcm.edu	37	1	154218831	154218831	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr1:154218831A>C	ENST00000361546.2	+	10	1036	c.994A>C	c.(994-996)Aca>Cca	p.T332P	UBAP2L_ENST00000271877.7_Missense_Mutation_p.T343P|UBAP2L_ENST00000343815.6_Missense_Mutation_p.T332P|UBAP2L_ENST00000428931.1_Missense_Mutation_p.T332P			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	332					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCAGGGAACACATTTTCTCA	0.463																																																0													116	116	116					1																	154218831		2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.994A>C	1.37:g.154218831A>C	ENSP00000355343:p.Thr332Pro		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.818250	0.50633	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000368504;ENST00000361546	T;T;T;T;T	0.46451	2.74;2.74;2.74;0.87;2.74	5.29	4.15	0.48705	.	0.166846	0.53938	D	0.000042	T	0.11196	0.0273	N	0.12182	0.205	0.32078	N	0.59357	B;B;B;B;B	0.22414	0.0;0.069;0.0;0.0;0.0	B;B;B;B;B	0.20384	0.0;0.029;0.0;0.0;0.0	T	0.07424	-1.0773	10	0.59425	D	0.04	-2.358	9.5653	0.39394	0.704:0.0:0.0:0.296	.	246;343;325;332;332	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	P	332;332;343;343;332	ENSP00000345308:T332P;ENSP00000389445:T332P;ENSP00000271877:T343P;ENSP00000357490:T343P;ENSP00000355343:T332P	ENSP00000271877:T343P	T	+	1	0	UBAP2L	152485455	0.996000	0.38824	0.992000	0.48379	0.999000	0.98932	1.769000	0.38522	1.007000	0.39238	0.533000	0.62120	ACA		0.463	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		C	154218831	A	C	154218831	3	2	373	1	0	0	0	0	1	0	0	0	16843	159	6	5	1032	5	UBAP2L	1	154218831	Missense_Mutation	SNP	A	TCGA-BP-4804-01A-02D-1373-10	3106342	154218831	95031790	3	20728											
ODC1	4953	hgsc.bcm.edu	37	2	10583632	10583632	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr2:10583632C>A	ENST00000234111.4	-	7	1160	c.650G>T	c.(649-651)tGt>tTt	p.C217F	ODC1_ENST00000405333.1_Missense_Mutation_p.C217F|ODC1_ENST00000446285.1_5'Flank	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	217					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	GTCAAAAACACAGCGGGCATC	0.473																																																0													87	91	90					2																	10583632		2203	4300	6503	SO:0001583	missense	4953				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.650G>T	2.37:g.10583632C>A	ENSP00000234111:p.Cys217Phe		Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	6.796	0.515872	0.12944	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.40756	1.02;1.02	5.79	3.99	0.46301	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.087604	0.85682	D	0.000000	T	0.30230	0.0758	L	0.28274	0.84	0.58432	D	0.999997	B	0.20887	0.049	B	0.25759	0.063	T	0.04440	-1.0951	10	0.22109	T	0.4	.	12.4714	0.55790	0.0:0.8646:0.0:0.1354	.	217	P11926	DCOR_HUMAN	F	217;217;88	ENSP00000234111:C217F;ENSP00000385333:C217F	ENSP00000234111:C217F	C	-	2	0	ODC1	10501083	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.985000	0.49362	0.798000	0.33994	-0.150000	0.13652	TGT		0.473	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			A	10583632	C	A	10583632	3	1	373	1	0	0	0	0	1	0	0	0	10827	478	17	4	759	4	ODC1	2	10583632	Missense_Mutation	SNP	C	TCGA-BP-4804-01A-02D-1373-10		10583632	232615741	4	20729											
STAT1	6772	hgsc.bcm.edu	37	2	191862646	191862646	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr2:191862646G>A	ENST00000361099.3	-	9	1108	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	STAT1_ENST00000392322.3_Missense_Mutation_p.R241W|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.R241W|STAT1_ENST00000392323.2_Missense_Mutation_p.R243W	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	241					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.R241W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TGCTGTCTCCGCTTCCACTCC	0.473																																																1	Substitution - Missense(1)	endometrium(1)											79	75	76					2																	191862646		2203	4300	6503	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.721C>T	2.37:g.191862646G>A	ENSP00000354394:p.Arg241Trp		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802663	0.70682	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.28	5.28	0.74379	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.310953	0.36778	N	0.002401	T	0.77308	0.4111	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.63597	0.663;0.916	T	0.78874	-0.2032	10	0.56958	D	0.05	-18.7476	14.8073	0.69968	0.0:0.0:0.8556:0.1444	.	241;241	P42224-2;P42224	.;STAT1_HUMAN	W	241;241;241;243;149	ENSP00000354394:R241W;ENSP00000386244:R241W;ENSP00000376136:R241W;ENSP00000376137:R243W	ENSP00000354394:R241W	R	-	1	2	STAT1	191570891	1.000000	0.71417	0.968000	0.41197	0.522000	0.34438	4.231000	0.58639	2.746000	0.94184	0.655000	0.94253	CGG		0.473	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		A	191862646	G	A	191862646	3	1	373	1	0	0	0	0	1	0	0	0	15269	1086	38	1	1603	1	STAT1	2	191862646	Missense_Mutation	SNP	G	TCGA-BP-4804-01A-02D-1373-10	181279014	191862646	51336727	5	20730											
FARP2	9855	hgsc.bcm.edu	37	2	242429386	242429386	+	Missense_Mutation	SNP	A	A	G	rs150907406		TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr2:242429386A>G	ENST00000264042.3	+	22	2601	c.2431A>G	c.(2431-2433)Agt>Ggt	p.S811G		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	811	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S811C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGTGGAAGAAAGTGATAACGA	0.532																																																1	Substitution - Missense(1)	skin(1)											103	90	95					2																	242429386		2203	4300	6503	SO:0001583	missense	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2431A>G	2.37:g.242429386A>G	ENSP00000264042:p.Ser811Gly		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.88|13.88	2.369397|2.369397	0.42003|0.42003	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000444371|ENST00000264042	.|T	.|0.42900	.|0.96	5.51|5.51	-1.43|-1.43	0.08884|0.08884	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.312440	.|0.39274	.|N	.|0.001407	T|T	0.29976|0.29976	0.0750|0.0750	L|L	0.52126|0.52126	1.63|1.63	0.19575|0.19575	N|N	0.999965|0.999965	.|B	.|0.15719	.|0.014	.|B	.|0.16289	.|0.015	T|T	0.15838|0.15838	-1.0423|-1.0423	5|10	.|0.52906	.|T	.|0.07	.|.	5.3629|5.3629	0.16098|0.16098	0.501:0.2665:0.2324:0.0|0.501:0.2665:0.2324:0.0	.|.	.|811	.|O94887	.|FARP2_HUMAN	R|G	4|811	.|ENSP00000264042:S811G	.|ENSP00000264042:S811G	K|S	+|+	2|1	0|0	FARP2|FARP2	242078059|242078059	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.028000|0.028000	0.11728|0.11728	4.313000|4.313000	0.59160|0.59160	-0.502000|-0.502000	0.06596|0.06596	0.528000|0.528000	0.53228|0.53228	AAG|AGT		0.532	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			G	242429386	A	G	242429386	3	3	373	1	0	0	0	0	1	0	0	0	5679	72	3	3	2513	3	FARP2	2	242429386	Missense_Mutation	SNP	A	TCGA-BP-4804-01A-02D-1373-10	50566740	242429386	769987	6	20731											
UBP1	7342	hgsc.bcm.edu	37	3	33450220	33450220	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr3:33450220G>A	ENST00000283629.3	-	8	1418	c.889C>T	c.(889-891)Cca>Tca	p.P297S	UBP1_ENST00000283628.5_Missense_Mutation_p.P297S|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Intron	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	297				SSKRTLP -> VQQADFA (in Ref. 1). {ECO:0000305}.	angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P297S(2)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TAGTCTGCTGGCAAAGTCCGC	0.448																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)											121	115	117					3																	33450220		2203	4300	6503	SO:0001583	missense	7342			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.889C>T	3.37:g.33450220G>A	ENSP00000283629:p.Pro297Ser		Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011871	0.75046	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	T;T	0.16897	2.31;2.31	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00376	-1.1779	10	0.31617	T	0.26	-11.0023	18.833	0.92148	0.0:0.0:1.0:0.0	.	297	Q9NZI7	UBIP1_HUMAN	S	297	ENSP00000283629:P297S;ENSP00000283628:P297S	ENSP00000283628:P297S	P	-	1	0	UBP1	33425224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.855000	0.92236	2.890000	0.99128	0.585000	0.79938	CCA		0.448	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		A	33450220	G	A	33450220	3	1	373	1	0	0	0	0	1	0	0	0	16900	1203	42	2	769	2	UBP1	3	33450220	Missense_Mutation	SNP	G	TCGA-BP-4804-01A-02D-1373-10		33450220	164572210	7	20732											
PDIA5	10954	hgsc.bcm.edu	37	3	122849455	122849455	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr3:122849455A>C	ENST00000316218.7	+	11	997	c.902A>C	c.(901-903)cAc>cCc	p.H301P		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	301	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GTCATGTTCCACGCCCCATGT	0.557																																																0													140	115	123					3																	122849455		2203	4300	6503	SO:0001583	missense	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.902A>C	3.37:g.122849455A>C	ENSP00000323313:p.His301Pro		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489422	0.84962	.	.	ENSG00000065485	ENST00000316218	T	0.38887	1.11	5.76	5.76	0.90799	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.052848	0.85682	D	0.000000	T	0.54303	0.1850	L	0.48362	1.52	0.53688	D	0.999971	D	0.58970	0.984	P	0.59643	0.861	T	0.56950	-0.7894	10	0.87932	D	0	.	14.6496	0.68786	1.0:0.0:0.0:0.0	.	301	Q14554	PDIA5_HUMAN	P	301	ENSP00000323313:H301P	ENSP00000323313:H301P	H	+	2	0	PDIA5	124332145	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.320000	0.89995	2.200000	0.70718	0.379000	0.24179	CAC		0.557	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		C	122849455	A	C	122849455	3	2	373	1	0	0	0	0	1	0	0	0	11673	159	6	5	944	5	PDIA5	3	122849455	Missense_Mutation	SNP	A	TCGA-BP-4804-01A-02D-1373-10	89399235	122849455	75172975	8	20733											
OSMR	9180	hgsc.bcm.edu;ucsc.edu	37	5	38886147	38886147	+	Silent	SNP	T	T	G			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr5:38886147T>G	ENST00000274276.3	+	7	1248	c.846T>G	c.(844-846)tcT>tcG	p.S282S	OSMR_ENST00000502536.1_Silent_p.S282S	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	282					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAGATTTTCTGGGGAAAAGA	0.343																																																0													54	56	55					5																	38886147		2203	4300	6503	SO:0001819	synonymous_variant	9180			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.846T>G	5.37:g.38886147T>G			Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	CCDS3928.1																																																																																				0.343	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		G	38886147	T	G	38886147	2	3	373	1	0	0	0	0	0	0	0	1	11294	1567	55	5		5	OSMR	5	38886147	Silent	SNP	T	TCGA-BP-4804-01A-02D-1373-10		38886147	142029113	9	20734											
DDX41	51428	hgsc.bcm.edu;ucsc.edu	37	5	176942816	176942816	+	Silent	SNP	A	A	G			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr5:176942816A>G	ENST00000507955.1	-	6	964	c.441T>C	c.(439-441)acT>acC	p.T147T	DDX41_ENST00000506965.1_Intron	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	147					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			aacggggtggagtccagctgt	0.562																																																0													126	124	125					5																	176942816		2203	4300	6503	SO:0001819	synonymous_variant	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.441T>C	5.37:g.176942816A>G			B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Silent	SNP	ENST00000507955.1	37	CCDS4427.1																																																																																				0.562	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		G	176942816	A	G	176942816	2	3	373	1	0	0	0	0	0	0	0	1	4363	291	11	3		3	DDX41	5	176942816	Silent	SNP	A	TCGA-BP-4804-01A-02D-1373-10	138056669	176942816	3972444	10	20735											
HIST1H1A	3024	hgsc.bcm.edu	37	6	26017707	26017707	+	Missense_Mutation	SNP	A	A	G	rs150074424		TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr6:26017707A>G	ENST00000244573.3	-	1	333	c.254T>C	c.(253-255)cTg>cCg	p.L85P		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	85	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CTTAATGCCCAGCTTAATGCG	0.567																																																0								A	PRO/LEU	1,4405		0,1,2202	75	78	77		254	4.2	1	6	dbSNP_134	77	0,8600		0,0,4300	no	missense	HIST1H1A	NM_005325.3	98	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	85/216	26017707	1,13005	2203	4300	6503	SO:0001583	missense	3024			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.254T>C	6.37:g.26017707A>G	ENSP00000244573:p.Leu85Pro		Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	18.50	3.636849	0.67130	2.27E-4	0.0	ENSG00000124610	ENST00000244573	T	0.11169	2.8	4.2	4.2	0.49525	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.434585	0.23266	N	0.050063	T	0.33323	0.0859	M	0.93808	3.46	0.80722	D	1	D	0.59357	0.985	D	0.78314	0.991	T	0.45948	-0.9226	10	0.72032	D	0.01	-13.8207	13.1659	0.59571	1.0:0.0:0.0:0.0	.	85	Q02539	H11_HUMAN	P	85	ENSP00000244573:L85P	ENSP00000244573:L85P	L	-	2	0	HIST1H1A	26125686	0.938000	0.31826	0.999000	0.59377	0.952000	0.60782	1.750000	0.38329	1.834000	0.53371	0.496000	0.49642	CTG		0.567	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		G	26017707	A	G	26017707	3	3	373	1	0	0	0	0	1	0	0	0	7124	188	7	3	397	3	HIST1H1A	6	26017707	Missense_Mutation	SNP	A	TCGA-BP-4804-01A-02D-1373-10		26017707	145097360	11	20736											
ZAN	7455	hgsc.bcm.edu	37	7	100371474	100371474	+	RNA	SNP	G	G	A	rs78193191	byFrequency	TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr7:100371474G>A	ENST00000348028.3	+	0	5930				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGCTGCTCCGTTTCGGGCCT	0.622													G|||	2231	0.445487	0.2141	0.5418	5008	,	,		18070	0.7867		0.3419	False		,,,				2504	0.4448															0													32	34	33					7																	100371474		2009	4154	6163			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100371474G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	17.72	3.459247	0.63401	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.80994	2.44;2.44;2.41;-1.44	4.56	2.73	0.32206	von Willebrand factor, type C (1);von Willebrand factor, type D domain (1);	0.756330	0.11382	N	0.569707	T	0.73845	0.3639	M	0.76574	2.34	0.21064	N	0.999795	P;P	0.42908	0.754;0.793	B;B	0.33750	0.105;0.169	T	0.64106	-0.6485	10	0.34782	T	0.22	.	6.1384	0.20247	0.226:0.0:0.774:0.0	.	1922;1922	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	1922;1922;1922;433	ENSP00000445943:R1922H;ENSP00000445091:R1922H;ENSP00000444427:R1922H;ENSP00000441117:R433H	ENSP00000423579:R1922H	R	+	2	0	ZAN	100209410	0.922000	0.31269	0.754000	0.31244	0.137000	0.21094	1.873000	0.39558	1.222000	0.43521	0.448000	0.29417	CGT		0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100371474	G	A	100371474	1	1	373	0	1	0	0	0	0	0	0	0	17518	1145	40	1		1	ZAN	7	100371474	RNA	SNP	G	TCGA-BP-4804-01A-02D-1373-10		100371474	58767189	12	20737											
ADAM28	10863	hgsc.bcm.edu	37	8	24192996	24192996	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr8:24192996A>T	ENST00000265769.4	+	14	1519	c.1409A>T	c.(1408-1410)gAt>gTt	p.D470V	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.D470V|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.D217V|ADAM28_ENST00000540823.1_Missense_Mutation_p.D237V	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	470	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCAGCAAAAGATGAGTGCGAC	0.433																																					NSCLC(193;488 2149 22258 34798 40734)											0													134	125	128					8																	24192996		2203	4300	6503	SO:0001583	missense	10863			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1409A>T	8.37:g.24192996A>T	ENSP00000265769:p.Asp470Val		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.82|18.82	3.705912|3.705912	0.68615|0.68615	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154|ENST00000521629	T;T;T;T|.	0.12879|.	2.64;2.64;2.64;2.64|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Blood coagulation inhibitor, Disintegrin (5);|.	.|.	.|.	.|.	.|.	D|D	0.84042|0.84042	0.5385|0.5385	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.63880|.	0.979;0.993;0.993;0.973|.	D;D;D;D|.	0.67548|.	0.952;0.949;0.949;0.94|.	D|D	0.87560|0.87560	0.2471|0.2471	9|5	0.87932|.	D|.	0|.	.|.	14.0996|14.0996	0.65046|0.65046	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	237;470;470;470|.	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2|.	.;.;ADA28_HUMAN;.|.	V|S	470;217;237;470|102	ENSP00000265769:D470V;ENSP00000380770:D217V;ENSP00000443743:D237V;ENSP00000393699:D470V|.	ENSP00000265769:D470V|.	D|R	+|+	2|3	0|2	ADAM28|ADAM28	24248941|24248941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.162000|6.162000	0.71874|0.71874	2.213000|2.213000	0.71641|0.71641	0.528000|0.528000	0.53228|0.53228	GAT|AGA		0.433	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		T	24192996	A	T	24192996	3	4	373	1	0	0	0	0	1	0	0	0	246	333	12	5	1463	5	ADAM28	8	24192996	Missense_Mutation	SNP	A	TCGA-BP-4804-01A-02D-1373-10		24192996	122171026	13	20738											
TLR4	7099	hgsc.bcm.edu	37	9	120475463	120475463	+	Missense_Mutation	SNP	C	C	T	rs148638298		TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr9:120475463C>T	ENST00000355622.6	+	3	1158	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F	TLR4_ENST00000394487.4_Missense_Mutation_p.L313F|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	353					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L353F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACTCAAATCTCTCAAAAGGCT	0.353																																																1	Substitution - Missense(1)	skin(1)											56	61	59					9																	120475463		2202	4300	6502	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1057C>T	9.37:g.120475463C>T	ENSP00000363089:p.Leu353Phe		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366985	0.41902	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.66995	-0.24;-0.24	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000035	T	0.69584	0.3127	L	0.33485	1.01	0.43673	D	0.9961	D	0.89917	1.0	D	0.97110	1.0	T	0.72077	-0.4399	10	0.87932	D	0	.	5.7761	0.18279	0.1892:0.6948:0.0:0.1161	.	353	O00206	TLR4_HUMAN	F	313;353	ENSP00000377997:L313F;ENSP00000363089:L353F	ENSP00000363089:L353F	L	+	1	0	TLR4	119515284	0.978000	0.34361	0.992000	0.48379	0.075000	0.17131	0.711000	0.25764	2.621000	0.88768	0.655000	0.94253	CTC		0.353	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		T	120475463	C	T	120475463	3	4	373	1	0	0	0	0	1	0	0	0	15958	913	32	2	1067	2	TLR4	9	120475463	Missense_Mutation	SNP	C	TCGA-BP-4804-01A-02D-1373-10		120475463	20737968	14	20739											
FAM179B	23116	hgsc.bcm.edu	37	14	45514043	45514043	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr14:45514043C>A	ENST00000361577.3	+	13	4338	c.4124C>A	c.(4123-4125)gCa>gAa	p.A1375E	KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.A1375E	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1375										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCTGCACGTGCAGTTGTTTCT	0.338																																																0													79	76	77					14																	45514043		2202	4300	6502	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4124C>A	14.37:g.45514043C>A	ENSP00000355045:p.Ala1375Glu		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277894	0.80692	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.43688	1.51;0.94	5.74	5.74	0.90152	Armadillo-type fold (1);	0.211953	0.50627	D	0.000119	T	0.65974	0.2743	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.72338	0.952;0.977	T	0.66870	-0.5814	10	0.66056	D	0.02	-17.2161	19.5147	0.95159	0.0:1.0:0.0:0.0	.	1375;1375	G3XAE9;Q9Y4F4	.;F179B_HUMAN	E	1375	ENSP00000355045:A1375E;ENSP00000354917:A1375E	ENSP00000354917:A1375E	A	+	2	0	FAM179B	44583793	1.000000	0.71417	0.967000	0.41034	0.601000	0.36947	7.027000	0.76463	2.708000	0.92522	0.650000	0.86243	GCA		0.338	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		A	45514043	C	A	45514043	3	1	373	1	0	0	0	0	1	0	0	0	5508	710	25	4	4174	4	FAM179B	14	45514043	Missense_Mutation	SNP	C	TCGA-BP-4804-01A-02D-1373-10		45514043	61835497	15	20740											
SYNE2	23224	hgsc.bcm.edu	37	14	64450489	64450489	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr14:64450489A>G	ENST00000344113.4	+	18	2248	c.2036A>G	c.(2035-2037)gAt>gGt	p.D679G	SYNE2_ENST00000358025.3_Missense_Mutation_p.D679G|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D679G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	679					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAAAACAGGATCAGCCCACT	0.284																																																0													41	40	40					14																	64450489		1797	4066	5863	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2036A>G	14.37:g.64450489A>G	ENSP00000341781:p.Asp679Gly		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.963463	0.34659	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57107	0.79;0.79;0.42	4.97	3.82	0.43975	.	0.946035	0.08814	N	0.889775	T	0.43656	0.1257	L	0.44542	1.39	0.28012	N	0.934873	B;P	0.36909	0.437;0.573	B;B	0.33690	0.081;0.168	T	0.34850	-0.9812	10	0.46703	T	0.11	.	7.9606	0.30068	0.9006:0.0:0.0994:0.0	.	679;679	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	G	679	ENSP00000350719:D679G;ENSP00000341781:D679G;ENSP00000452570:D679G	ENSP00000261678:D679G	D	+	2	0	SYNE2	63520242	0.069000	0.21087	0.360000	0.25837	0.925000	0.55904	0.913000	0.28611	1.031000	0.39867	0.528000	0.53228	GAT		0.284	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64450489	A	G	64450489	3	3	373	1	0	0	0	0	1	0	0	0	15451	333	12	3	2102	3	SYNE2	14	64450489	Missense_Mutation	SNP	A	TCGA-BP-4804-01A-02D-1373-10	18936446	64450489	42899051	16	20741											
AQR	9716	hgsc.bcm.edu	37	15	35202458	35202458	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr15:35202458A>T	ENST00000156471.5	-	17	1766	c.1541T>A	c.(1540-1542)aTt>aAt	p.I514N		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	514					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GAAAGCCACAATGGGCTGGGC	0.443																																																0													108	108	108					15																	35202458		1912	4127	6039	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1541T>A	15.37:g.35202458A>T	ENSP00000156471:p.Ile514Asn		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208294	0.79240	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.95980	-3.87	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.99593	1.0976	10	0.87932	D	0	-24.1575	16.1998	0.82063	1.0:0.0:0.0:0.0	.	514	O60306	AQR_HUMAN	N	514	ENSP00000156471:I514N	ENSP00000156471:I514N	I	-	2	0	AQR	32989750	1.000000	0.71417	0.999000	0.59377	0.565000	0.35776	9.189000	0.94928	2.232000	0.73038	0.528000	0.53228	ATT		0.443	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		T	35202458	A	T	35202458	3	4	373	1	0	0	0	0	1	0	0	0	835	101	4	5	2992	5	AQR	15	35202458	Missense_Mutation	SNP	A	TCGA-BP-4804-01A-02D-1373-10		35202458	67328934	17	20742											
MAP2K5	5607	hgsc.bcm.edu	37	15	68099075	68099075	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr15:68099075A>G	ENST00000178640.5	+	22	1961	c.1334A>G	c.(1333-1335)cAg>cGg	p.Q445R	MAP2K5_ENST00000354498.5_Missense_Mutation_p.Q409R|MAP2K5_ENST00000340972.4_Missense_Mutation_p.Q255R|MAP2K5_ENST00000395476.2_Missense_Mutation_p.Q435R	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	445					activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						CGGAGCCAGCAGGGGCCCCCG	0.662																																																0													18	19	18					15																	68099075		2156	4217	6373	SO:0001583	missense	5607			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"Mitogen-activated protein kinase cascade / Kinase kinases"	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.1334A>G	15.37:g.68099075A>G	ENSP00000178640:p.Gln445Arg		B4DE43|Q92961|Q92962	Missense_Mutation	SNP	ENST00000178640.5	37	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	A	7.831	0.719854	0.15372	.	.	ENSG00000137764	ENST00000395476;ENST00000178640;ENST00000354498;ENST00000340972	T;T;T;T	0.74002	-0.4;-0.59;-0.57;-0.8	5.48	5.48	0.80851	Protein kinase-like domain (1);	2.036920	0.02219	N	0.063894	T	0.62380	0.2423	N	0.22421	0.69	0.35708	D	0.81614	B;B;B	0.32160	0.037;0.358;0.244	B;B;B	0.29785	0.013;0.107;0.05	T	0.53961	-0.8364	10	0.15499	T	0.54	29.6023	7.2944	0.26385	0.7802:0.146:0.0737:0.0	.	255;435;445	A6NK28;Q13163-2;Q13163	.;.;MP2K5_HUMAN	R	435;445;409;255	ENSP00000378859:Q435R;ENSP00000178640:Q445R;ENSP00000346493:Q409R;ENSP00000342101:Q255R	ENSP00000178640:Q445R	Q	+	2	0	MAP2K5	65886129	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.435000	0.44811	2.089000	0.63090	0.459000	0.35465	CAG		0.662	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162		G	68099075	A	G	68099075	3	3	373	1	0	0	0	0	1	0	0	0	9242	188	7	3	1420	3	MAP2K5	15	68099075	Missense_Mutation	SNP	A	TCGA-BP-4804-01A-02D-1373-10	32896617	68099075	34432317	18	20743											
LARP6	55323	hgsc.bcm.edu	37	15	71124525	71124525	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr15:71124525G>T	ENST00000299213.8	-	3	1412	c.1342C>A	c.(1342-1344)Ccc>Acc	p.P448T	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	448					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CTCGTACCGGGGCTTTTCTCC	0.617																																																0													67	71	70					15																	71124525		2199	4297	6496	SO:0001583	missense	55323			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.1342C>A	15.37:g.71124525G>T	ENSP00000299213:p.Pro448Thr		Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	ENST00000299213.8	37	CCDS32281.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389355	0.61956	.	.	ENSG00000166173	ENST00000299213	T	0.57436	0.4	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.62368	0.2422	L	0.56769	1.78	0.80722	D	1	D	0.60575	0.988	P	0.54815	0.761	T	0.60321	-0.7286	10	0.34782	T	0.22	-12.9051	16.4568	0.84021	0.0:0.0:1.0:0.0	.	448	Q9BRS8	LARP6_HUMAN	T	448	ENSP00000299213:P448T	ENSP00000299213:P448T	P	-	1	0	LARP6	68911579	1.000000	0.71417	0.890000	0.34922	0.418000	0.31294	9.069000	0.93967	2.471000	0.83476	0.555000	0.69702	CCC		0.617	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		T	71124525	G	T	71124525	3	4	373	1	0	0	0	0	1	0	0	0	8634	1232	43	4	137	4	LARP6	15	71124525	Missense_Mutation	SNP	G	TCGA-BP-4804-01A-02D-1373-10	3025450	71124525	31406867	19	20744											
SERPINB4	6318	hgsc.bcm.edu	37	18	61306561	61306561	+	Missense_Mutation	SNP	G	G	C	rs541302733		TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr18:61306561G>C	ENST00000341074.5	-	7	741	c.626C>G	c.(625-627)tCt>tGt	p.S209C	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	209					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S209Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CATCTGTACAGATTTGTATGT	0.358																																																1	Substitution - Missense(1)	ovary(1)											89	77	81					18																	61306561		2203	4300	6503	SO:0001583	missense	6318			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.626C>G	18.37:g.61306561G>C	ENSP00000343445:p.Ser209Cys		A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040205	0.55003	.	.	ENSG00000206073	ENST00000341074;ENST00000436264	D;D	0.84873	-1.91;-1.91	4.17	3.29	0.37713	Serpin domain (3);	0.543479	0.15483	N	0.259999	D	0.90113	0.6911	M	0.88241	2.94	0.80722	D	1	P	0.49307	0.922	P	0.51355	0.667	D	0.91460	0.5188	10	0.72032	D	0.01	.	11.8533	0.52423	0.0914:0.0:0.9086:0.0	.	209	P48594	SPB4_HUMAN	C	209;166	ENSP00000343445:S209C;ENSP00000399796:S166C	ENSP00000343445:S209C	S	-	2	0	SERPINB4	59457541	0.042000	0.20092	0.019000	0.16419	0.002000	0.02628	2.202000	0.42743	2.300000	0.77407	0.603000	0.83216	TCT		0.358	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		C	61306561	G	C	61306561	3	2	373	1	0	0	0	0	1	0	0	0	14109	942	33	4	554	4	SERPINB4	18	61306561	Missense_Mutation	SNP	G	TCGA-BP-4804-01A-02D-1373-10		61306561	16770687	20	20745											
ZNF30	90075	hgsc.bcm.edu;ucsc.edu	37	19	35434174	35434174	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr19:35434174T>C	ENST00000601142.1	+	5	541	c.304T>C	c.(304-306)Tct>Cct	p.S102P	ZNF30_ENST00000439785.1_Missense_Mutation_p.S103P|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000595818.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.S21P|ZNF30_ENST00000303586.7_Missense_Mutation_p.S103P			P17039	ZNF30_HUMAN	zinc finger protein 30	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AATGCCCACCTCTGAAAACTG	0.338																																																0													45	43	44					19																	35434174		1829	4074	5903	SO:0001583	missense	90075			X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.304T>C	19.37:g.35434174T>C	ENSP00000469954:p.Ser102Pro		A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	T	4.245	0.044522	0.08196	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813	T;T	0.09445	3.17;2.98	1.35	0.225	0.15325	.	.	.	.	.	T	0.06325	0.0163	N	0.08118	0	0.09310	N	1	P;B	0.39624	0.681;0.043	P;B	0.45343	0.477;0.012	T	0.32851	-0.9891	9	0.33940	T	0.23	.	3.3202	0.07048	0.369:0.0:0.0:0.631	.	103;102	P17039-2;P17039	.;ZNF30_HUMAN	P	103;102;21	ENSP00000403441:S103P;ENSP00000416457:S21P	ENSP00000303889:S102P	S	+	1	0	ZNF30	40126014	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.506000	0.02271	0.001000	0.14605	0.416000	0.27883	TCT		0.338	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		C	35434174	T	C	35434174	3	2	373	1	0	0	0	0	1	0	0	0	17835	1551	54	3	321	3	ZNF30	19	35434174	Missense_Mutation	SNP	T	TCGA-BP-4804-01A-02D-1373-10		35434174	23694809	21	20746											
MGAT3	4248	hgsc.bcm.edu	37	22	39883403	39883403	+	Silent	SNP	G	G	C			TCGA-BP-4804-01A-02D-1373-10	TCGA-BP-4804-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d310a284-76e2-41e0-8641-11c3e206c3f4	cc9fe2bf-0a9d-49fa-a4a5-4fc6016b1257	g.chr22:39883403G>C	ENST00000341184.6	+	2	266	c.51G>C	c.(49-51)ctG>ctC	p.L17L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	17					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGCCGGCCTGTGCCTCATCT	0.557																																																0													210	202	205					22																	39883403		2203	4300	6503	SO:0001819	synonymous_variant	4248			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.51G>C	22.37:g.39883403G>C			A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	CCDS13994.2																																																																																				0.557	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		C	39883403	G	C	39883403	2	2	373	1	0	0	0	0	0	0	0	1	9546	1364	48	4		4	MGAT3	22	39883403	Silent	SNP	G	TCGA-BP-4804-01A-02D-1373-10		39883403	11421163	22	20747											
LRRC41	10489	hgsc.bcm.edu	37	1	46744679	46744679	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr1:46744679T>C	ENST00000343304.6	-	10	2582	c.2297A>G	c.(2296-2298)cAc>cGc	p.H766R	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	766					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGGCGCAGGTGACCAAAGGC	0.607																																																0													41	47	45					1																	46744679		2203	4300	6503	SO:0001583	missense	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2297A>G	1.37:g.46744679T>C	ENSP00000343298:p.His766Arg		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	CCDS533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.09|16.09	3.025511|3.025511	0.54683|0.54683	.|.	.|.	ENSG00000132128|ENSG00000132128	ENST00000343304|ENST00000371972	T|.	0.52526|.	0.66|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.073131|.	0.56097|.	D|.	0.000027|.	T|T	0.56352|0.56352	0.1979|0.1979	N|N	0.24115|0.24115	0.695|0.695	0.45490|0.45490	D|D	0.998453|0.998453	P|.	0.46512|.	0.879|.	P|.	0.45099|.	0.469|.	T|T	0.62343|0.62343	-0.6874|-0.6874	10|6	0.42905|0.87932	T|D	0.14|0	-11.1244|-11.1244	15.326|15.326	0.74164|0.74164	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	766|.	Q15345|.	LRC41_HUMAN|.	R|A	766|596	ENSP00000343298:H766R|.	ENSP00000343298:H766R|ENSP00000361040:T596A	H|T	-|-	2|1	0|0	LRRC41|LRRC41	46517266|46517266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.287000|3.287000	0.51732|0.51732	2.026000|2.026000	0.59711|0.59711	0.397000|0.397000	0.26171|0.26171	CAC|ACC		0.607	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		C	46744679	T	C	46744679	3	2	374	1	0	0	0	0	1	0	0	0	9001	1696	59	3	145	3	LRRC41	1	46744679	Missense_Mutation	SNP	T	TCGA-BP-4807-01A-01D-1373-10		46744679	202505942	1	20748											
COL11A1	1301	hgsc.bcm.edu	37	1	103496778	103496778	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr1:103496778A>G	ENST00000370096.3	-	5	986	c.674T>C	c.(673-675)aTc>aCc	p.I225T	COL11A1_ENST00000358392.2_Missense_Mutation_p.I225T|COL11A1_ENST00000353414.4_Missense_Mutation_p.I225T|COL11A1_ENST00000512756.1_Missense_Mutation_p.I225T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	225	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCACCTGTGATCAAAAACTG	0.418																																																0													76	68	71					1																	103496778		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.674T>C	1.37:g.103496778A>G	ENSP00000359114:p.Ile225Thr		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743685	0.69418	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.04083	3.71;3.71;3.71;3.71;3.71;3.71	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	M	0.91354	3.2	0.80722	D	1	D;D;D;D	0.67145	0.968;0.989;0.996;0.991	D;D;D;D	0.78314	0.969;0.985;0.99;0.991	T	0.08229	-1.0732	10	0.87932	D	0	.	15.7618	0.78087	1.0:0.0:0.0:0.0	.	225;225;225;225	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	T	225;225;225;225;225;152	ENSP00000359114:I225T;ENSP00000351163:I225T;ENSP00000302551:I225T;ENSP00000426533:I225T;ENSP00000408640:I225T;ENSP00000410177:I152T	ENSP00000302551:I225T	I	-	2	0	COL11A1	103269366	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	8.820000	0.92003	2.125000	0.65367	0.450000	0.29827	ATC		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		G	103496778	A	G	103496778	3	3	374	1	0	0	0	0	1	0	0	0	3669	333	12	3	5155	3	COL11A1	1	103496778	Missense_Mutation	SNP	A	TCGA-BP-4807-01A-01D-1373-10	56752099	103496778	145753843	2	20749											
RBBP5	5929	hgsc.bcm.edu;ucsc.edu	37	1	205084072	205084072	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr1:205084072C>G	ENST00000264515.6	-	3	204	c.63G>C	c.(61-63)ttG>ttC	p.L21F	RBBP5_ENST00000367164.1_Missense_Mutation_p.L21F|RBBP5_ENST00000484379.1_5'UTR	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	21					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGATACAATCCAAAGTTCCAT	0.403																																																0													39	37	38					1																	205084072		2203	4300	6503	SO:0001583	missense	5929			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.63G>C	1.37:g.205084072C>G	ENSP00000264515:p.Leu21Phe		A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040639	0.93685	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.66638	-0.22;-0.19	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.994	D	0.85588	0.1244	10	0.87932	D	0	.	19.6939	0.96016	0.0:1.0:0.0:0.0	.	56;21;21	B4DMM7;Q15291-2;Q15291	.;.;RBBP5_HUMAN	F	21	ENSP00000264515:L21F;ENSP00000356132:L21F	ENSP00000264515:L21F	L	-	3	2	RBBP5	203350695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.826000	0.62715	2.764000	0.94973	0.650000	0.86243	TTG		0.403	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		G	205084072	C	G	205084072	3	3	374	1	0	0	0	0	1	0	0	0	13108	593	21	4	1601	4	RBBP5	1	205084072	Missense_Mutation	SNP	C	TCGA-BP-4807-01A-01D-1373-10	101587294	205084072	44166549	3	20750											
DISP1	84976	hgsc.bcm.edu	37	1	223178162	223178162	+	Silent	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr1:223178162T>C	ENST00000284476.6	+	8	3587	c.3423T>C	c.(3421-3423)ggT>ggC	p.G1141G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1141					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTACCTGTGGTCAGATTCCTT	0.478																																																0													77	80	79					1																	223178162		2203	4300	6503	SO:0001819	synonymous_variant	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3423T>C	1.37:g.223178162T>C			Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	CCDS1536.1																																																																																				0.478	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		C	223178162	T	C	223178162	2	2	374	1	0	0	0	0	0	0	0	1	4541	1654	58	3		3	DISP1	1	223178162	Silent	SNP	T	TCGA-BP-4807-01A-01D-1373-10	18094090	223178162	26072459	4	20751											
USP34	9736	hgsc.bcm.edu	37	2	61417437	61417437	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr2:61417437T>C	ENST00000398571.2	-	78	9918	c.9842A>G	c.(9841-9843)gAa>gGa	p.E3281G	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3281					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTGGAAATTTCAACTCGGTT	0.413																																																0													121	112	115					2																	61417437		1824	4098	5922	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9842A>G	2.37:g.61417437T>C	ENSP00000381577:p.Glu3281Gly		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	25.3|25.3	4.620405|4.620405	0.87460|0.87460	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269|ENST00000411912	T|.	0.64618|.	-0.11|.	5.87|5.87	4.72|4.72	0.59763|0.59763	.|.	0.137960|.	0.64402|.	D|.	0.000003|.	T|.	0.57873|.	0.2083|.	L|L	0.43152|0.43152	1.355|1.355	0.43930|0.43930	D|D	0.99658|0.99658	B|.	0.27498|.	0.18|.	B|.	0.22753|.	0.041|.	T|.	0.53837|.	-0.8382|.	10|.	0.72032|.	D|.	0.01|.	.|.	12.0411|12.0411	0.53454|0.53454	0.0:0.0673:0.0:0.9327|0.0:0.0673:0.0:0.9327	.|.	3281|.	Q70CQ2|.	UBP34_HUMAN|.	G|W	3129;3046;3281;159|957	ENSP00000381577:E3281G|.	ENSP00000263989:E3129G|.	E|X	-|-	2|3	0|0	USP34|USP34	61270941|61270941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.105000|7.105000	0.77031|0.77031	1.151000|1.151000	0.42436|0.42436	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.413	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			C	61417437	T	C	61417437	3	2	374	1	0	0	0	0	1	0	0	0	17070	1783	62	3	810	3	USP34	2	61417437	Missense_Mutation	SNP	T	TCGA-BP-4807-01A-01D-1373-10		61417437	181781936	5	20752											
EIF2AK3	9451	hgsc.bcm.edu;ucsc.edu	37	2	88874521	88874521	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr2:88874521A>T	ENST00000303236.3	-	13	2781	c.2480T>A	c.(2479-2481)tTg>tAg	p.L827*	EIF2AK3_ENST00000419748.1_Nonsense_Mutation_p.L676*|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GCCAATATGCAATCGATTAGT	0.403																																					GBM(138;671 1851 16235 39058 45249)											0													124	123	123					2																	88874521		2203	4300	6503	SO:0001587	stop_gained	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2480T>A	2.37:g.88874521A>T	ENSP00000307235:p.Leu827*		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Nonsense_Mutation	SNP	ENST00000303236.3	37	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	A	37	6.499041	0.97616	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	.	.	.	5.99	4.81	0.61882	.	0.478516	0.22458	N	0.059786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-1.3492	6.8378	0.23945	0.798:0.0:0.202:0.0	.	.	.	.	X	676;827;676;706	.	ENSP00000307235:L827X	L	-	2	0	EIF2AK3	88655636	0.007000	0.16637	0.003000	0.11579	0.198000	0.23893	1.328000	0.33758	1.042000	0.40150	0.533000	0.62120	TTG		0.403	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		T	88874521	A	T	88874521	4	4	374	1	0	0	0	0	0	1	0	0	5000	131	5	5	890	5	EIF2AK3	2	88874521	Nonsense_Mutation	SNP	A	TCGA-BP-4807-01A-01D-1373-10	27457084	88874521	154324852	6	20753											
VHL	7428	hgsc.bcm.edu	37	3	10188235	10188236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr3:10188235_10188236insG	ENST00000256474.2	+	2	1218_1219	c.378_379insG	c.(379-381)gggfs	p.G127fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	127	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L128fs*31(2)|p.D126fs*4(2)|p.H125fs*27(1)|p.D126fs*5(1)|p.D126fs*32(1)|p.D126fs*33(1)|p.G127fs*5(1)|p.L128fs*4(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGACACACGATGGGCTTCTGGT	0.5		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Deletion - Frameshift(8)|Insertion - Frameshift(2)	kidney(10)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.381dupG	3.37:g.10188238_10188238dupG	ENSP00000256474:p.Gly127fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.5	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10188236	-	G	10188235	7	5	374	1	0	1	1	0	0	0	0	0	17167	1461	51	0	384	0	VHL	3	10188235	Frame_Shift_Ins	INS	-	TCGA-BP-4807-01A-01D-1373-10		10188235	187834195	7	20754											
IMPDH2	54870	hgsc.bcm.edu;ucsc.edu	37	3	49065754	49065754	+	IGR	SNP	A	A	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr3:49065754A>C	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Splice_Site_p.L84R	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACCGCCTGTAAGCTACAGGAT	0.488																																																0													83	78	80					3																	49065754		2203	4300	6503	SO:0001628	intergenic_variant	3615				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065754A>C			Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.972965	0.92919	.	.	ENSG00000178035	ENST00000537036;ENST00000326739	T	0.76060	-0.99	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	T	0.79776	0.4504	L	0.35854	1.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74785	-0.3547	10	0.15499	T	0.54	-15.3617	16.6438	0.85155	1.0:0.0:0.0:0.0	.	84	P12268	IMDH2_HUMAN	R	84	ENSP00000321584:L84R	ENSP00000321584:L84R	L	-	2	0	IMPDH2	49040758	1.000000	0.71417	0.999000	0.59377	0.770000	0.43624	9.207000	0.95064	2.333000	0.79357	0.533000	0.62120	CTT		0.488	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		C	49065754	A	C	49065754	1	2	374	0	1	0	0	0	0	0	0	0	7729	86	3	5		5	IMPDH2	3	49065754	IGR	SNP	A	TCGA-BP-4807-01A-01D-1373-10	38877519	49065754	148956676	8	20755											
PRKCD	5580	hgsc.bcm.edu	37	3	53219628	53219628	+	Silent	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr3:53219628C>T	ENST00000394729.2	+	10	1225	c.897C>T	c.(895-897)tcC>tcT	p.S299S	PRKCD_ENST00000330452.3_Silent_p.S299S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	299					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.S299S(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGAGAGCCTCCCGGAGATCAG	0.572																																																1	Substitution - coding silent(1)	lung(1)											83	92	89					3																	53219628		2203	4300	6503	SO:0001819	synonymous_variant	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.897C>T	3.37:g.53219628C>T			B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	CCDS2870.1																																																																																				0.572	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			T	53219628	C	T	53219628	2	4	374	1	0	0	0	0	0	0	0	1	12514	610	22	2		2	PRKCD	3	53219628	Silent	SNP	C	TCGA-BP-4807-01A-01D-1373-10	4153874	53219628	144802802	9	20756											
COL25A1	84570	hgsc.bcm.edu;ucsc.edu	37	4	109810856	109810856	+	Splice_Site	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr4:109810856C>T	ENST00000399132.1	-	17	1470		c.e17+1		COL25A1_ENST00000399127.1_Splice_Site|COL25A1_ENST00000399126.1_Splice_Site	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GTTATAGTTACCTTAATTCCT	0.398																																																0													108	105	106					4																	109810856		1869	4110	5979	SO:0001630	splice_region_variant	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.939+1G>A	4.37:g.109810856C>T				Splice_Site	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576270	0.86645	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9387	0.92597	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL25A1	110030305	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.866000	0.63005	2.817000	0.96982	0.557000	0.71058	.		0.398	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	Intron	T	109810856	C	T	109810856	5	4	374	1	0	0	0	0	0	0	1	0	3686	521	18	2	1196	2	COL25A1	4	109810856	Splice_Site	SNP	C	TCGA-BP-4807-01A-01D-1373-10		109810856	81343420	10	20757											
MTMR12	54545	hgsc.bcm.edu;ucsc.edu	37	5	32268894	32268894	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr5:32268894T>C	ENST00000382142.3	-	6	666	c.496A>G	c.(496-498)Agt>Ggt	p.S166G	MTMR12_ENST00000264934.5_Missense_Mutation_p.S166G|MTMR12_ENST00000280285.5_Missense_Mutation_p.S166G	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	166						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATTATGCCACTGACAATCTAA	0.358																																																0													108	104	105					5																	32268894		2203	4300	6503	SO:0001583	missense	54545			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.496A>G	5.37:g.32268894T>C	ENSP00000371577:p.Ser166Gly		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947993	0.73787	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.82711	-1.64;-1.64;-1.64	5.48	4.3	0.51218	.	0.179092	0.52532	D	0.000080	D	0.87224	0.6124	L	0.57536	1.79	0.41391	D	0.987615	D;D;D	0.71674	0.998;0.993;0.988	D;P;P	0.63488	0.915;0.879;0.76	D	0.86142	0.1582	10	0.44086	T	0.13	.	11.7664	0.51933	0.132:0.0:0.0:0.868	.	166;166;166	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	G	166	ENSP00000280285:S166G;ENSP00000371577:S166G;ENSP00000264934:S166G	ENSP00000264934:S166G	S	-	1	0	MTMR12	32304651	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.606000	0.46291	0.895000	0.36342	0.460000	0.39030	AGT		0.358	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		C	32268894	T	C	32268894	3	2	374	1	0	0	0	0	1	0	0	0	9943	1580	55	3	1791	3	MTMR12	5	32268894	Missense_Mutation	SNP	T	TCGA-BP-4807-01A-01D-1373-10		32268894	148646366	11	20758											
PARP8	79668	hgsc.bcm.edu	37	5	50093025	50093025	+	Silent	SNP	T	T	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr5:50093025T>G	ENST00000281631.5	+	14	1691	c.1533T>G	c.(1531-1533)gtT>gtG	p.V511V	PARP8_ENST00000505554.1_Silent_p.V490V|PARP8_ENST00000505697.2_Silent_p.V511V|PARP8_ENST00000503750.2_Silent_p.V511V|PARP8_ENST00000514342.2_Silent_p.V264V|PARP8_ENST00000514067.2_Silent_p.V511V|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	511						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTGTGTGGTTTGTGATGAGC	0.343																																																0													127	115	119					5																	50093025		2202	4300	6502	SO:0001819	synonymous_variant	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1533T>G	5.37:g.50093025T>G			Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	CCDS3954.1																																																																																				0.343	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		G	50093025	T	G	50093025	2	3	374	1	0	0	0	0	0	0	0	1	11467	1828	64	5		5	PARP8	5	50093025	Silent	SNP	T	TCGA-BP-4807-01A-01D-1373-10	17824131	50093025	130822235	12	20759											
ANKHD1	54882	hgsc.bcm.edu	37	5	139886426	139886426	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr5:139886426G>C	ENST00000360839.2	+	19	3569	c.3415G>C	c.(3415-3417)Gac>Cac	p.D1139H	ANKHD1_ENST00000297183.6_Missense_Mutation_p.D1139H|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D1139H	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1139						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGTGGTAGACTTGCTGCT	0.383																																																0													110	101	104					5																	139886426		2203	4300	6503	SO:0001583	missense	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3415G>C	5.37:g.139886426G>C	ENSP00000354085:p.Asp1139His		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.894126|4.894126	0.91889|0.91889	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219|ENST00000246149	T;T;T;T;T|.	0.65549|.	-0.16;-0.16;-0.16;-0.16;-0.16|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Ankyrin repeat-containing domain (4);|.	0.060679|.	0.64402|.	D|.	0.000002|.	T|.	0.60274|.	0.2256|.	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;D;D;D;D|.	0.76494|.	0.037;0.999;0.982;0.984;0.984|.	B;D;P;P;P|.	0.71184|.	0.17;0.972;0.863;0.905;0.905|.	T|.	0.50866|.	-0.8777|.	10|.	0.87932|.	D|.	0|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	350;1139;1158;1139;1139|.	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	H|Y	1139;1172;1139;1139;673;350;1158;292;1139|364	ENSP00000354085:D1139H;ENSP00000297183:D1139H;ENSP00000394489:D1158H;ENSP00000405602:D292H;ENSP00000432016:D1139H|.	ENSP00000432016:D1139H|.	D|X	+|+	1|3	0|2	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139866610|139866610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	9.869000|9.869000	0.99810|0.99810	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|TAG		0.383	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		C	139886426	G	C	139886426	3	2	374	1	0	0	0	0	1	0	0	0	628	942	33	4	3595	4	ANKHD1	5	139886426	Missense_Mutation	SNP	G	TCGA-BP-4807-01A-01D-1373-10	89793401	139886426	41028834	13	20760											
TRDN	10345	hgsc.bcm.edu	37	6	123539746	123539746	+	Nonstop_Mutation	SNP	T	T	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr6:123539746T>G	ENST00000398178.3	-	41	2211	c.2190A>C	c.(2188-2190)taA>taC	p.*730Y	TRDN_ENST00000334268.4_Nonstop_Mutation_p.*722Y	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	0					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		ACATGTGTGTTTACTGTCCTT	0.413																																																0													129	117	121					6																	123539746		1884	4109	5993	SO:0001578	stop_lost	10345			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.2190A>C	6.37:g.123539746T>G			A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	T	1.528	-0.545121	0.04024	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	4.94	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.34951	D	0.751269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5461	0.22406	0.0:0.6583:0.0:0.3417	.	.	.	.	Y	730;732;722	.	.	X	-	3	2	TRDN	123581445	0.035000	0.19736	0.177000	0.23020	0.097000	0.18754	-0.005000	0.12855	0.164000	0.19529	-0.242000	0.12053	TAA		0.413	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	123539746	T	G	123539746	4	3	374	1	0	0	0	0	0	0	0	0	16473	1848	64	5	3	5	TRDN	6	123539746	Nonstop_Mutation	SNP	T	TCGA-BP-4807-01A-01D-1373-10		123539746	47575321	14	20761											
LATS1	9113	hgsc.bcm.edu;ucsc.edu	37	6	150001249	150001249	+	Silent	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr6:150001249A>G	ENST00000543571.1	-	5	2902	c.2355T>C	c.(2353-2355)atT>atC	p.I785I	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Silent_p.I785I	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CACCCCCAGGAATGTAGTCCA	0.398																																																0													120	120	120					6																	150001249		2203	4300	6503	SO:0001819	synonymous_variant	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2355T>C	6.37:g.150001249A>G				Silent	SNP	ENST00000543571.1	37	CCDS34551.1																																																																																				0.398	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		G	150001249	A	G	150001249	2	3	374	1	0	0	0	0	0	0	0	1	8648	242	9	3		3	LATS1	6	150001249	Silent	SNP	A	TCGA-BP-4807-01A-01D-1373-10	26461503	150001249	21113818	15	20762											
DAGLB	221955	hgsc.bcm.edu;ucsc.edu	37	7	6474529	6474529	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr7:6474529A>T	ENST00000297056.6	-	4	711	c.542T>A	c.(541-543)tTa>tAa	p.L181*	DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000436575.1_Nonsense_Mutation_p.L140*|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000428902.2_Nonsense_Mutation_p.L54*|DAGLB_ENST00000421761.2_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	181					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GCCATTAAGTAACTGGCTTGA	0.493																																																0													139	133	135					7																	6474529		2203	4300	6503	SO:0001587	stop_gained	221955			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.542T>A	7.37:g.6474529A>T	ENSP00000297056:p.Leu181*		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Nonsense_Mutation	SNP	ENST00000297056.6	37	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	A	38	7.225416	0.98146	.	.	ENSG00000164535	ENST00000297056;ENST00000436575;ENST00000471132;ENST00000428902	.	.	.	5.37	5.37	0.77165	.	0.148157	0.46145	D	0.000302	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3683	0.74541	1.0:0.0:0.0:0.0	.	.	.	.	X	181;140;181;54	.	ENSP00000297056:L181X	L	-	2	0	DAGLB	6441054	0.953000	0.32496	0.059000	0.19551	0.978000	0.69477	8.759000	0.91667	2.024000	0.59613	0.482000	0.46254	TTA		0.493	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		T	6474529	A	T	6474529	4	4	374	1	0	0	0	0	0	1	0	0	4229	372	13	5	1524	5	DAGLB	7	6474529	Nonsense_Mutation	SNP	A	TCGA-BP-4807-01A-01D-1373-10		6474529	152664134	16	20763											
DNAH11	8701	hgsc.bcm.edu;ucsc.edu	37	7	21784607	21784607	+	Silent	SNP	A	A	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr7:21784607A>T	ENST00000409508.3	+	51	8467	c.8436A>T	c.(8434-8436)acA>acT	p.T2812T	DNAH11_ENST00000328843.6_Silent_p.T2819T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2819					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGATTCTTACAGAAACGTTAG	0.433									Kartagener syndrome																																							0													107	101	103					7																	21784607		1977	4159	6136	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8436A>T	7.37:g.21784607A>T			Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.433	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21784607	A	T	21784607	2	4	374	1	0	0	0	0	0	0	0	1	4601	175	7	5		5	DNAH11	7	21784607	Silent	SNP	A	TCGA-BP-4807-01A-01D-1373-10	15310078	21784607	137354056	17	20764											
ZP3	7784	hgsc.bcm.edu	37	7	76071183	76071184	+	Frame_Shift_Ins	INS	-	-	G	rs375263236		TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr7:76071183_76071184insG	ENST00000394857.3	+	8	1143_1144	c.1085_1086insG	c.(1084-1089)gtggggfs	p.VG362fs	ZP3_ENST00000467555.1_3'UTR|ZP3_ENST00000336517.4_Frame_Shift_Ins_p.VG311fs|ZP3_ENST00000416245.1_Frame_Shift_Ins_p.VG186fs	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	362					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GATGTCACCGTGGGGCCACTGA	0.545																																																0																																										SO:0001589	frameshift_variant	7784			M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.1089dupG	7.37:g.76071187_76071187dupG	ENSP00000378326:p.Val362fs		Q06633|Q29RW0	Frame_Shift_Ins	INS	ENST00000394857.3	37	CCDS47618.1																																																																																				0.545	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			G	76071184	-	G	76071183	7	5	374	1	0	1	1	0	0	0	0	0	18222	1696	59	0	1115	0	ZP3	7	76071183	Frame_Shift_Ins	INS	-	TCGA-BP-4807-01A-01D-1373-10	54286576	76071183	83067480	18	20765											
ZAN	7455	hgsc.bcm.edu	37	7	100353014	100353016	+	RNA	DEL	ACA	ACA	-	rs377643276|rs201422303	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	ACA	ACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr7:100353014_100353016delACA	ENST00000348028.3	+	0	3455_3457				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AATTGCTTCTACAACAACGACTA	0.567														119	0.023762	0.0023	0.0447	5008	,	,		19715	0.0		0.0606	False		,,,				2504	0.0245															0									,	39,3617		1,37,1790					,	4	0.9			101	495,7413		13,469,3472	no	coding,coding	ZAN	NM_173059.1,NM_003386.1	,	14,506,5262	A1A1,A1R,RR		6.2595,1.0667,4.6178	,	,		534,11030						7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100353017_100353019delACA			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	In_Frame_Del	DEL	ENST00000348028.3	37																																																																																					0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		-	100353016	ACA	-	100353014	6	5	374	0	1	1	0	1	0	0	0	0	17518	391	14	0		0	ZAN	7	100353014	RNA	DEL	ACA	TCGA-BP-4807-01A-01D-1373-10	24281831	100353014	58785649	19	20766											
DPYSL2	1808	hgsc.bcm.edu	37	8	26505237	26505238	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr8:26505237_26505238insTA	ENST00000311151.5	+	11	1614_1615	c.1202_1203insTA	c.(1201-1206)attgctfs	p.A402fs	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.A366fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.A366fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	402					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AAAGGCCGCATTGCTGTGGGAT	0.545																																																0																																										SO:0001589	frameshift_variant	1808			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	Exception_encountered	8.37:g.26505237_26505238insTA	ENSP00000309539:p.Ala402fs		A8K5H2|B4DR31|D3DSS7|O00424	Frame_Shift_Ins	INS	ENST00000311151.5	37	CCDS6051.1																																																																																				0.545	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		TA	26505238	-	TA	26505237	7	5	374	1	0	1	1	0	0	0	0	0	4749	1493	52	0	1244	0	DPYSL2	8	26505237	Frame_Shift_Ins	INS	-	TCGA-BP-4807-01A-01D-1373-10		26505237	119858785	20	20767											
CHD7	55636	hgsc.bcm.edu	37	8	61743043	61743043	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr8:61743043C>G	ENST00000423902.2	+	15	4164	c.3685C>G	c.(3685-3687)Ctt>Gtt	p.L1229V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1229					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTTCACATTTCTTTCCAAAGG	0.398																																																0													116	111	113					8																	61743043		1880	4109	5989	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3685C>G	8.37:g.61743043C>G	ENSP00000392028:p.Leu1229Val		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412394	0.83340	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.77620	-1.11	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.64402	D	0.000002	D	0.86318	0.5904	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87114	0.2187	10	0.87932	D	0	-14.9724	13.9306	0.63994	0.0:0.9268:0.0:0.0731	.	1229	Q9P2D1	CHD7_HUMAN	V	1229	ENSP00000392028:L1229V	ENSP00000307304:L1229V	L	+	1	0	CHD7	61905597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.083000	0.71326	2.729000	0.93468	0.591000	0.81541	CTT		0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		G	61743043	C	G	61743043	3	3	374	1	0	0	0	0	1	0	0	0	3332	913	32	4	3739	4	CHD7	8	61743043	Missense_Mutation	SNP	C	TCGA-BP-4807-01A-01D-1373-10	35237806	61743043	84620979	21	20768											
CNBD1	168975	hgsc.bcm.edu	37	8	88297032	88297032	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr8:88297032A>G	ENST00000518476.1	+	7	949	c.898A>G	c.(898-900)Aag>Gag	p.K300E		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	300										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GGGATATGCAAAGATAAAGGA	0.348																																																0													40	38	39					8																	88297032		1826	4069	5895	SO:0001583	missense	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.898A>G	8.37:g.88297032A>G	ENSP00000430073:p.Lys300Glu			Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951760	0.34471	.	.	ENSG00000176571	ENST00000518476	D	0.96300	-3.97	5.25	5.25	0.73442	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.52532	D	0.000080	D	0.94046	0.8092	L	0.52573	1.65	0.09310	N	1	P	0.40970	0.734	B	0.40329	0.326	D	0.89220	0.3570	10	0.42905	T	0.14	-8.9038	11.5315	0.50614	1.0:0.0:0.0:0.0	.	300	Q8NA66	CNBD1_HUMAN	E	300	ENSP00000430073:K300E	ENSP00000430073:K300E	K	+	1	0	CNBD1	88366148	0.944000	0.32072	0.055000	0.19348	0.415000	0.31203	4.462000	0.60121	1.981000	0.57761	0.482000	0.46254	AAG		0.348	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		G	88297032	A	G	88297032	3	3	374	1	0	0	0	0	1	0	0	0	3593	15	1	3	924	3	CNBD1	8	88297032	Missense_Mutation	SNP	A	TCGA-BP-4807-01A-01D-1373-10	26553989	88297032	58066990	22	20769											
ZNF572	137209	hgsc.bcm.edu	37	8	125987897	125987897	+	Silent	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr8:125987897A>G	ENST00000319286.5	+	2	169	c.15A>G	c.(13-15)aaA>aaG	p.K5K		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGCAAGAAAAAAAACTGTTGG	0.388										HNSCC(60;0.17)																																						0													112	109	110					8																	125987897		2203	4300	6503	SO:0001819	synonymous_variant	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.15A>G	8.37:g.125987897A>G			A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	CCDS6354.1																																																																																				0.388	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		G	125987897	A	G	125987897	2	3	374	1	0	0	0	0	0	0	0	1	18009	11	1	3		3	ZNF572	8	125987897	Silent	SNP	A	TCGA-BP-4807-01A-01D-1373-10	37690865	125987897	20376125	23	20770											
MRPL50	54534	hgsc.bcm.edu	37	9	104152751	104152752	+	Frame_Shift_Ins	INS	-	-	TA	rs201880400		TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr9:104152751_104152752insTA	ENST00000374865.4	-	2	494_495	c.473_474insTA	c.(472-474)tacfs	p.Y158fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	158						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GAATTGCTTAGTAACTCCAAGT	0.381																																																0										42,4218		1,40,2089						2	0.9			63	45,8193		1,43,4075	no	frameshift	MRPL50	NM_019051.2		2,83,6164	A1A1,A1R,RR		0.5462,0.9859,0.6961				87,12411				SO:0001589	frameshift_variant	54534			AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"Mitochondrial ribosomal proteins / large subunits"	16654	protein-coding gene	gene with protein product	"mitochondrial 39S ribosomal protein L50"	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.472_473dupTA	9.37:g.104152752_104152753dupTA	ENSP00000363999:p.Tyr158fs		B7Z358|Q5T7E0|Q9NX15	Frame_Shift_Ins	INS	ENST00000374865.4	37	CCDS6753.1																																																																																				0.381	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		TA	104152752	-	TA	104152751	7	5	374	1	0	1	1	0	0	0	0	0	9816	1024	36	0	6	0	MRPL50	9	104152751	Frame_Shift_Ins	INS	-	TCGA-BP-4807-01A-01D-1373-10		104152751	37060680	24	20771											
SPTAN1	6709	hgsc.bcm.edu	37	9	131343279	131343279	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr9:131343279G>T	ENST00000372731.4	+	11	1512	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	SPTAN1_ENST00000372739.3_Missense_Mutation_p.D468Y|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D468Y	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	468					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAGTGCATGGACCTGCAGCT	0.597																																					NSCLC(120;833 1744 2558 35612 37579)											0													93	82	86					9																	131343279		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1402G>T	9.37:g.131343279G>T	ENSP00000361816:p.Asp468Tyr		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.795820	0.90453	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.43294	0.95;0.95;0.95	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.986;0.984	D;D;D;P;P	0.87578	0.981;0.998;0.994;0.901;0.861	T	0.75611	-0.3258	10	0.66056	D	0.02	.	18.3195	0.90232	0.0:0.0:1.0:0.0	.	468;468;468;468;468	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	Y	468	ENSP00000350882:D468Y;ENSP00000361816:D468Y;ENSP00000361824:D468Y	ENSP00000350882:D468Y	D	+	1	0	SPTAN1	130383100	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.452000	0.97615	2.573000	0.86826	0.455000	0.32223	GAC		0.597	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131343279	G	T	131343279	3	4	374	1	0	0	0	0	1	0	0	0	15122	1174	41	4	1440	4	SPTAN1	9	131343279	Missense_Mutation	SNP	G	TCGA-BP-4807-01A-01D-1373-10	27190528	131343279	9870152	25	20772											
MYO3A	53904	hgsc.bcm.edu	37	10	26385321	26385321	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr10:26385321A>G	ENST00000265944.5	+	16	1740	c.1574A>G	c.(1573-1575)aAt>aGt	p.N525S	MYO3A_ENST00000543632.1_Missense_Mutation_p.N525S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	525	Myosin motor.		N -> K (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N525S(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGAGAAAAAAATTTTCATATT	0.323																																																2	Substitution - Missense(2)	ovary(2)											30	34	33					10																	26385321		2194	4287	6481	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1574A>G	10.37:g.26385321A>G	ENSP00000265944:p.Asn525Ser		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.904706	0.72868	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.88431	-0.92;-2.38	5.48	4.33	0.51752	Myosin head, motor domain (2);	0.042713	0.85682	D	0.000000	D	0.93006	0.7774	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.99;0.994;1.0	D	0.93010	0.6431	10	0.87932	D	0	.	12.136	0.53972	0.8716:0.0:0.0:0.1284	.	525;525;525	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	S	525	ENSP00000265944:N525S;ENSP00000445909:N525S	ENSP00000265944:N525S	N	+	2	0	MYO3A	26425327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	0.993000	0.38866	0.533000	0.62120	AAT		0.323	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		G	26385321	A	G	26385321	3	3	374	1	0	0	0	0	1	0	0	0	10078	101	4	3	1628	3	MYO3A	10	26385321	Missense_Mutation	SNP	A	TCGA-BP-4807-01A-01D-1373-10		26385321	109149426	26	20773											
CTNNA3	29119	hgsc.bcm.edu;ucsc.edu	37	10	67726369	67726369	+	Splice_Site	SNP	C	C	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr10:67726369C>A	ENST00000433211.2	-	17	2575		c.e17+1		CTNNA3_ENST00000373744.4_Splice_Site|CTNNA3_ENST00000373735.1_Splice_Site	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCAGTACTCACAGCTGACATG	0.423																																																0													117	111	113					10																	67726369		2203	4300	6503	SO:0001630	splice_region_variant	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2400+1G>T	10.37:g.67726369C>A				Splice_Site	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060911	0.76074	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	.	.	.	5.41	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5655	0.61815	0.157:0.843:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNA3	67396375	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.776000	0.85560	1.387000	0.46486	0.650000	0.86243	.		0.423	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	Intron	A	67726369	C	A	67726369	5	1	374	1	0	0	0	0	0	0	1	0	4016	492	17	4	294	4	CTNNA3	10	67726369	Splice_Site	SNP	C	TCGA-BP-4807-01A-01D-1373-10	41341048	67726369	67808378	27	20774											
OR52D1	390066	hgsc.bcm.edu	37	11	5510540	5510541	+	Frame_Shift_Ins	INS	-	-	GGCT	rs146317894|rs576495879|rs190320444|rs36066208|rs377247106	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:5510540_5510541insGGCT	ENST00000322641.5	+	1	626_627	c.604_605insGGCT	c.(604-606)gggfs	p.-203fs	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1						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)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGTCTATGGGCTAACTGTG	0.49														471	0.0940495	0.0212	0.1715	5008	,	,		23752	0.0754		0.1779	False		,,,				2504	0.0706															0										221,4041		4,213,1914						5.5	1		dbSNP_130	269	1217,7035		95,1027,3004	no	frameshift	OR52D1	NM_001005163.2		99,1240,4918	A1A1,A1R,RR		14.7479,5.1854,11.4911				1438,11076				SO:0001589	frameshift_variant	390066			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.605_608dupGGCT	11.37:g.5510541_5510544dupGGCT	ENSP00000326232:p.Leu203fs		B9EGY9|Q6IFI6	Frame_Shift_Ins	INS	ENST00000322641.5	37	CCDS31384.1																																																																																				0.49	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		GGCT	5510541	-	GGCT	5510540	7	5	374	1	0	1	1	0	0	0	0	0	11116	1348	47	0	606	0	OR52D1	11	5510540	Frame_Shift_Ins	INS	-	TCGA-BP-4807-01A-01D-1373-10		5510540	129495976	28	20775											
AMPD3	272	hgsc.bcm.edu	37	11	10517135	10517135	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:10517135G>C	ENST00000396554.3	+	9	1653	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	AMPD3_ENST00000444303.2_Missense_Mutation_p.E270Q	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	429					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCGGGAGCTGGAGGAGAGCAA	0.607																																																0													63	55	58					11																	10517135		2201	4294	6495	SO:0001583	missense	272			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1312G>C	11.37:g.10517135G>C	ENSP00000379802:p.Glu438Gln		A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947912	0.92593	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.15	5.15	0.70609	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.91570	0.7337	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;0.97;1.0	D;P;D	0.66351	0.943;0.615;0.943	D	0.92443	0.5963	10	0.56958	D	0.05	-23.1559	18.2391	0.89960	0.0:0.0:1.0:0.0	.	436;429;438	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	Q	270;438;429;436;429	ENSP00000396000:E270Q;ENSP00000379802:E438Q;ENSP00000379801:E429Q;ENSP00000436987:E436Q;ENSP00000431648:E429Q	ENSP00000379801:E429Q	E	+	1	0	AMPD3	10473711	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.397000	0.81536	0.491000	0.48974	GAG		0.607	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		C	10517135	G	C	10517135	3	2	374	1	0	0	0	0	1	0	0	0	587	1175	41	4	1366	4	AMPD3	11	10517135	Missense_Mutation	SNP	G	TCGA-BP-4807-01A-01D-1373-10	5006595	10517135	124489381	29	20776											
OR5T1	390155	hgsc.bcm.edu	37	11	56043250	56043253	+	Frame_Shift_Del	DEL	ATCT	ATCT	-			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	ATCT	ATCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:56043250_56043253delATCT	ENST00000313033.2	+	1	222_225	c.136_139delATCT	c.(136-141)atctatfs	p.IY46fs		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATTTTTAGCAATCTATCTATTCAC	0.328																																																0																																										SO:0001589	frameshift_variant	390155			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.136_139delATCT	11.37:g.56043254_56043257delATCT	ENSP00000323612:p.Ile46fs		B2RNM9	Frame_Shift_Del	DEL	ENST00000313033.2	37	CCDS31525.1																																																																																				0.328	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		-	56043253	ATCT	-	56043250	7	5	374	1	0	1	0	1	0	0	0	0	11183	101	4	0	138	0	OR5T1	11	56043250	Frame_Shift_Del	DEL	ATCT	TCGA-BP-4807-01A-01D-1373-10	45526115	56043250	78963266	30	20777											
SNX15	29907	hgsc.bcm.edu	37	11	64799918	64799918	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:64799918C>T	ENST00000377244.3	+	3	281	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	SNX15_ENST00000352068.5_Missense_Mutation_p.R51W|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	51	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GGTCTGGAAGCGGTACAGCGA	0.652																																					Esophageal Squamous(56;269 1304 3324 8253)											0													79	71	74					11																	64799918		2201	4297	6498	SO:0001583	missense	29907			AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"Sorting nexins"	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.151C>T	11.37:g.64799918C>T	ENSP00000366452:p.Arg51Trp		E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.927926	0.73327	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.48	5.48	0.80851	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.85902	0.5805	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.984	D	0.90218	0.4269	10	0.87932	D	0	-2.8199	16.8521	0.85996	0.0:1.0:0.0:0.0	.	51;51;51	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	W	51;47;39;51	ENSP00000366452:R51W;ENSP00000437277:R47W;ENSP00000431690:R39W;ENSP00000316410:R51W	ENSP00000316410:R51W	R	+	1	2	SNX15	64556494	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	3.123000	0.50453	2.563000	0.86464	0.655000	0.94253	CGG		0.652	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			T	64799918	C	T	64799918	3	4	374	1	0	0	0	0	1	0	0	0	14892	759	27	1	161	1	SNX15	11	64799918	Missense_Mutation	SNP	C	TCGA-BP-4807-01A-01D-1373-10	8756668	64799918	70206598	31	20778											
RBM14	10432	hgsc.bcm.edu	37	11	66392311	66392312	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:66392311_66392312delGC	ENST00000310137.4	+	2	1103_1104	c.964_965delGC	c.(964-966)gcafs	p.A325fs	RBM14_ENST00000393979.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	325	Ala-rich.|TRBP-interacting domain.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGGGGGTCAGGCAGCTGCAGCT	0.619																																																0																																										SO:0001589	frameshift_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.964_965delGC	11.37:g.66392311_66392312delGC	ENSP00000311747:p.Ala325fs		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Frame_Shift_Del	DEL	ENST00000310137.4	37	CCDS8147.1																																																																																				0.619	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		-	66392312	GC	-	66392311	7	5	374	1	0	1	0	1	0	0	0	0	13121	1203	42	0	970	0	RBM14	11	66392311	Frame_Shift_Del	DEL	GC	TCGA-BP-4807-01A-01D-1373-10	1592393	66392311	68614205	32	20779											
BIRC3	330	hgsc.bcm.edu	37	11	102206736	102206736	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:102206736T>G	ENST00000263464.3	+	7	4114	c.1364T>G	c.(1363-1365)tTt>tGt	p.F455C	BIRC3_ENST00000532808.1_Missense_Mutation_p.F455C	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	455	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		ATGGCACTTTTTCAACATTTG	0.328			T	MALT1	MALT																																		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													84	89	87					11																	102206736		2202	4299	6501	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1364T>G	11.37:g.102206736T>G	ENSP00000263464:p.Phe455Cys		Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149178	0.57151	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.20881	2.04;2.04	5.28	1.65	0.23941	DEATH-like (2);Caspase Recruitment (3);	0.370334	0.34386	N	0.004008	T	0.40119	0.1104	M	0.80028	2.48	0.35879	D	0.82882	D	0.65815	0.995	D	0.70935	0.971	T	0.42120	-0.9470	10	0.54805	T	0.06	.	5.1348	0.14928	0.0:0.2165:0.1421:0.6414	.	455	Q13489	BIRC3_HUMAN	C	455;455;223	ENSP00000263464:F455C;ENSP00000432907:F455C	ENSP00000263464:F455C	F	+	2	0	BIRC3	101711946	0.997000	0.39634	0.888000	0.34837	0.996000	0.88848	1.219000	0.32479	0.117000	0.18138	0.533000	0.62120	TTT		0.328	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		G	102206736	T	G	102206736	3	3	374	1	0	0	0	0	1	0	0	0	1436	1841	64	5	1386	5	BIRC3	11	102206736	Missense_Mutation	SNP	T	TCGA-BP-4807-01A-01D-1373-10	35814425	102206736	32799780	33	20780											
GSG1	83445	hgsc.bcm.edu	37	12	13241706	13241706	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr12:13241706A>G	ENST00000396302.3	-	3	661	c.463T>C	c.(463-465)Tcc>Ccc	p.S155P	GSG1_ENST00000324458.8_Intron|GSG1_ENST00000537302.1_Intron|GSG1_ENST00000351606.6_Missense_Mutation_p.S191P|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000432710.2_Intron|GSG1_ENST00000337630.6_Intron|GSG1_ENST00000396310.2_Intron	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAGGGGAGGGAAGCCTTCTCC	0.522																																																0													95	75	82					12																	13241706		2203	4300	6503	SO:0001583	missense	83445			BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000396302.3:c.463T>C	12.37:g.13241706A>G	ENSP00000379596:p.Ser155Pro		Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000396302.3	37	CCDS8659.2	.	.	.	.	.	.	.	.	.	.	A	9.983	1.228733	0.22542	.	.	ENSG00000111305	ENST00000396302;ENST00000351606;ENST00000405543;ENST00000545401;ENST00000545699	T;T;T;T	0.33216	1.42;1.43;1.44;1.49	3.9	2.77	0.32553	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.80722	D	1	P;B;B	0.49447	0.924;0.005;0.0	B;B;B	0.38616	0.277;0.012;0.001	T	0.04915	-1.0918	9	0.34782	T	0.22	.	5.8752	0.18824	0.8816:0.0:0.1184:0.0	.	191;191;155	Q2KHT4-7;G3XAB9;F1T0A0	.;.;.	P	155;191;152;168;202	ENSP00000379596:S155P;ENSP00000336857:S191P;ENSP00000445884:S168P;ENSP00000440684:S202P	ENSP00000336857:S191P	S	-	1	0	GSG1	13132973	0.125000	0.22332	0.952000	0.39060	0.783000	0.44284	0.543000	0.23237	0.864000	0.35578	0.383000	0.25322	TCC		0.522	GSG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316545.1	NM_031289		G	13241706	A	G	13241706	3	3	374	1	0	0	0	0	1	0	0	0	6822	246	9	3	657	3	GSG1	12	13241706	Missense_Mutation	SNP	A	TCGA-BP-4807-01A-01D-1373-10		13241706	120610189	34	20781											
MLL2	8085	hgsc.bcm.edu	37	12	49442448	49442448	+	Silent	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr12:49442448T>C	ENST00000301067.7	-	13	4124	c.4125A>G	c.(4123-4125)ctA>ctG	p.L1375L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1375					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTACCTGCATTAGGACAAATT	0.463																																																0													244	245	245					12																	49442448		2012	4175	6187	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4125A>G	12.37:g.49442448T>C			O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.463	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49442448	T	C	49442448	2	2	374	1	0	0	0	0	0	0	0	1	9623	1741	61	3		3	MLL2	12	49442448	Silent	SNP	T	TCGA-BP-4807-01A-01D-1373-10	36200742	49442448	84409447	35	20782											
DCN	1634	hgsc.bcm.edu;ucsc.edu	37	12	91550907	91550907	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr12:91550907C>A	ENST00000052754.5	-	5	1098	c.597G>T	c.(595-597)atG>atT	p.M199I	DCN_ENST00000420120.2_Missense_Mutation_p.M90I|DCN_ENST00000228329.5_Missense_Mutation_p.M90I|DCN_ENST00000393155.1_Missense_Mutation_p.M199I|DCN_ENST00000552962.1_Missense_Mutation_p.M199I|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	199					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGAGCTTCTTCATTCCCTGGA	0.388																																																0													140	135	136					12																	91550907		2203	4300	6503	SO:0001583	missense	1634			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.597G>T	12.37:g.91550907C>A	ENSP00000052754:p.Met199Ile		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014083	0.75161	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.58210	0.35;3.61;0.35;0.35;3.61	5.69	5.69	0.88448	.	0.083846	0.85682	D	0.000000	T	0.57755	0.2075	M	0.74647	2.275	0.80722	D	1	B;P	0.37955	0.019;0.612	B;B	0.35813	0.053;0.211	T	0.64024	-0.6504	10	0.72032	D	0.01	.	19.7971	0.96490	0.0:1.0:0.0:0.0	.	199;90	P07585;P07585-2	PGS2_HUMAN;.	I	199;90;199;199;90	ENSP00000052754:M199I;ENSP00000228329:M90I;ENSP00000376862:M199I;ENSP00000447654:M199I;ENSP00000413723:M90I	ENSP00000052754:M199I	M	-	3	0	DCN	90075038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.515000	0.60489	2.666000	0.90696	0.585000	0.79938	ATG		0.388	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		A	91550907	C	A	91550907	3	1	374	1	0	0	0	0	1	0	0	0	4299	826	29	4	498	4	DCN	12	91550907	Missense_Mutation	SNP	C	TCGA-BP-4807-01A-01D-1373-10	42108459	91550907	42300988	36	20783											
MAP4K5	11183	hgsc.bcm.edu	37	14	50943023	50943023	+	Splice_Site	SNP	C	C	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr14:50943023C>A	ENST00000013125.4	-	7	698	c.380G>T	c.(379-381)gGt>gTt	p.G127V	MAP4K5_ENST00000557578.1_Intron	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ATAGGCAAGACCCTAAAAGTT	0.249																																																0													17	16	17					14																	50943023		1749	3956	5705	SO:0001630	splice_region_variant	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.379-1G>T	14.37:g.50943023C>A			Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37		.	.	.	.	.	.	.	.	.	.	C	25.6	4.653119	0.88056	.	.	ENSG00000012983	ENST00000013125;ENST00000555216;ENST00000557390	T;T;T	0.37752	2.08;1.18;1.18	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73496	-0.3964	10	0.87932	D	0	.	18.9711	0.92715	0.0:1.0:0.0:0.0	.	127;127	B2R928;Q9Y4K4	.;M4K5_HUMAN	V	127;60;127	ENSP00000013125:G127V;ENSP00000452289:G60V;ENSP00000451980:G127V	ENSP00000013125:G127V	G	-	2	0	MAP4K5	50012773	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.648000	0.83479	2.776000	0.95493	0.650000	0.86243	GGT		0.249	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575	Missense_Mutation	A	50943023	C	A	50943023	5	1	374	1	0	0	0	0	0	0	1	0	9265	521	18	4	2264	4	MAP4K5	14	50943023	Splice_Site	SNP	C	TCGA-BP-4807-01A-01D-1373-10		50943023	56406517	37	20784											
DYNC1H1	1778	hgsc.bcm.edu;ucsc.edu	37	14	102516872	102516872	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr14:102516872G>A	ENST00000360184.4	+	78	14077	c.13913G>A	c.(13912-13914)cGg>cAg	p.R4638Q	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4638					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCTACGAGCGGGGTGTCGCA	0.433																																																0													129	129	129					14																	102516872		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13913G>A	14.37:g.102516872G>A	ENSP00000348965:p.Arg4638Gln		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	35	5.553053	0.96501	.	.	ENSG00000197102	ENST00000360184	T	0.08807	3.05	5.61	5.61	0.85477	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04900	-1.0919	10	0.38643	T	0.18	.	19.652	0.95819	0.0:0.0:1.0:0.0	.	4638	Q14204	DYHC1_HUMAN	Q	4638	ENSP00000348965:R4638Q	ENSP00000348965:R4638Q	R	+	2	0	DYNC1H1	101586625	1.000000	0.71417	0.962000	0.40283	0.640000	0.38277	9.495000	0.97964	2.656000	0.90262	0.561000	0.74099	CGG		0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102516872	G	A	102516872	3	1	374	1	0	0	0	0	1	0	0	0	4843	1116	39	1	14223	1	DYNC1H1	14	102516872	Missense_Mutation	SNP	G	TCGA-BP-4807-01A-01D-1373-10	51573849	102516872	4832668	38	20785											
FMN1	342184	hgsc.bcm.edu;ucsc.edu	37	15	33261563	33261563	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr15:33261563C>A	ENST00000559047.1	-	5	2338	c.2339G>T	c.(2338-2340)gGt>gTt	p.G780V	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.G682V|FMN1_ENST00000334528.9_Missense_Mutation_p.G557V			Q68DA7	FMN1_HUMAN	formin 1	780	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCTTCACAACCCCCTCGCCA	0.493																																																0													285	264	271					15																	33261563		1984	4168	6152	SO:0001583	missense	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2339G>T	15.37:g.33261563C>A	ENSP00000454047:p.Gly780Val		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	4.304	0.055683	0.08291	.	.	ENSG00000248905	ENST00000334528	T	0.37915	1.17	4.68	1.72	0.24424	.	0.532391	0.20836	N	0.084782	T	0.28101	0.0693	L	0.43152	1.355	.	.	.	B	0.28850	0.225	B	0.30316	0.114	T	0.27806	-1.0063	9	0.44086	T	0.13	.	8.2491	0.31706	0.0:0.6858:0.0:0.3142	.	557	Q68DA7-5	.	V	557	ENSP00000333950:G557V	ENSP00000333950:G557V	G	-	2	0	FMN1	31048855	0.608000	0.26966	0.078000	0.20375	0.095000	0.18619	1.969000	0.40510	0.198000	0.20407	0.455000	0.32223	GGT		0.493	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		A	33261563	C	A	33261563	3	1	374	1	0	0	0	0	1	0	0	0	5951	507	18	4	1976	4	FMN1	15	33261563	Missense_Mutation	SNP	C	TCGA-BP-4807-01A-01D-1373-10		33261563	69269829	39	20786											
THBS1	7057	hgsc.bcm.edu	37	15	39887564	39887564	+	Splice_Site	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr15:39887564T>C	ENST00000260356.5	+	22	3672	c.3507T>C	c.(3505-3507)gaT>gaC	p.D1169D	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1169	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ATTTAACAGATCCCTAATCAT	0.318																																																0													38	36	37					15																	39887564		2198	4294	6492	SO:0001630	splice_region_variant	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3506-1T>C	15.37:g.39887564T>C			A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1																																																																																				0.318	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	Silent	C	39887564	T	C	39887564	5	2	374	1	0	0	0	0	0	0	1	0	15858	1449	50	3	3589	3	THBS1	15	39887564	Splice_Site	SNP	T	TCGA-BP-4807-01A-01D-1373-10	6626001	39887564	62643828	40	20787											
FBN1	2200	hgsc.bcm.edu;ucsc.edu	37	15	48780624	48780624	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr15:48780624C>T	ENST00000316623.5	-	26	3604	c.3149G>A	c.(3148-3150)aGc>aAc	p.S1050N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1050	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCACTTAAAGCTGCCAATGGT	0.478																																																0													91	86	88					15																	48780624		2198	4296	6494	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3149G>A	15.37:g.48780624C>T	ENSP00000325527:p.Ser1050Asn		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.620632	0.96660	.	.	ENSG00000166147	ENST00000316623	D	0.95307	-3.67	6.17	6.17	0.99709	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.85777	2.775	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.97490	1.0053	10	0.72032	D	0.01	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	1050	P35555	FBN1_HUMAN	N	1050	ENSP00000325527:S1050N	ENSP00000325527:S1050N	S	-	2	0	FBN1	46567916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	AGC		0.478	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			T	48780624	C	T	48780624	3	4	374	1	0	0	0	0	1	0	0	0	5704	797	28	2	5630	2	FBN1	15	48780624	Missense_Mutation	SNP	C	TCGA-BP-4807-01A-01D-1373-10	8893060	48780624	53750768	41	20788											
SCAMP2	10066	hgsc.bcm.edu	37	15	75143007	75143007	+	Silent	SNP	T	T	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr15:75143007T>G	ENST00000268099.9	-	6	589	c.480A>C	c.(478-480)tcA>tcC	p.S160S		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	160					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ACAGAGTCACTGAATGCACTG	0.562																																																0													88	83	85					15																	75143007		2197	4295	6492	SO:0001819	synonymous_variant	10066			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.480A>C	15.37:g.75143007T>G			B2RDF0|Q9BQE8	Silent	SNP	ENST00000268099.9	37	CCDS10271.1																																																																																				0.562	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		G	75143007	T	G	75143007	2	3	374	1	0	0	0	0	0	0	0	1	13877	1567	55	5		5	SCAMP2	15	75143007	Silent	SNP	T	TCGA-BP-4807-01A-01D-1373-10	26362383	75143007	27388385	42	20789											
SEPHS2	22928	hgsc.bcm.edu	37	16	30456532	30456532	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr16:30456532T>C	ENST00000478753.2	-	1	970	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.M173V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.M116V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	173					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AACATCAACATGTTGTCACAC	0.522																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)											0													113	109	111					16																	30456532		2135	4233	6368	SO:0001583	missense	22928			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.517A>G	16.37:g.30456532T>C	ENSP00000418669:p.Met173Val		Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37		.	.	.	.	.	.	.	.	.	.	T	15.93	2.976970	0.53720	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.27720	1.65;1.65;1.65	5.64	5.64	0.86602	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.39692	1.235	0.80722	D	1	B;P	0.38745	0.41;0.645	B;B	0.40329	0.326;0.228	T	0.03673	-1.1014	10	0.40728	T	0.16	-21.7722	14.1194	0.65177	0.0:0.0:0.0:1.0	.	173;116	Q99611;F5H8F9	SPS2_HUMAN;.	V	173;116;124;173	ENSP00000418669:M173V;ENSP00000443601:M116V;ENSP00000426234:M173V	ENSP00000390233:M124V	M	-	1	0	SEPHS2	30364033	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.909000	0.87444	2.281000	0.76405	0.533000	0.62120	ATG		0.522	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		C	30456532	T	C	30456532	3	2	374	1	0	0	0	0	1	0	0	0	14061	1464	51	3	833	3	SEPHS2	16	30456532	Missense_Mutation	SNP	T	TCGA-BP-4807-01A-01D-1373-10		30456532	59898221	43	20790											
TMCO7	79613	hgsc.bcm.edu;ucsc.edu	37	16	68893912	68893912	+	Silent	SNP	A	A	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr16:68893912A>C	ENST00000261778.1	+	2	232	c.220A>C	c.(220-222)Aga>Cga	p.R74R		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	74						integral component of membrane (GO:0016021)											GAAACTCCTAAGAGATGAAAT	0.408																																																0													87	83	84					16																	68893912		1871	4108	5979	SO:0001819	synonymous_variant	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.220A>C	16.37:g.68893912A>C			Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	CCDS45516.1																																																																																				0.408	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		C	68893912	A	C	68893912	2	2	374	1	0	0	0	0	0	0	0	1	16006	64	3	5		5	TMCO7	16	68893912	Silent	SNP	A	TCGA-BP-4807-01A-01D-1373-10	38437380	68893912	21460841	44	20791											
MTHFSD	64779	hgsc.bcm.edu	37	16	86575780	86575780	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr16:86575780T>A	ENST00000360900.6	-	6	507	c.482A>T	c.(481-483)gAa>gTa	p.E161V	MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000381214.5_Missense_Mutation_p.E161V|MTHFSD_ENST00000543303.2_Missense_Mutation_p.E160V|MTHFSD_ENST00000322911.6_Missense_Mutation_p.E160V	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	161							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CATGGCATATTCCAGATCGGC	0.572																																																0													74	74	74					16																	86575780		1985	4169	6154	SO:0001583	missense	64779			AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.482A>T	16.37:g.86575780T>A	ENSP00000354152:p.Glu161Val		A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668930	0.67814	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911	T;T;T	0.42131	0.98;0.98;0.98	5.6	5.6	0.85130	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	H	0.95151	3.63	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.83101	-0.0128	10	0.87932	D	0	-27.5322	14.95	0.71064	0.0:0.0:0.0:1.0	.	161;160;161;160	E9PAM1;B7ZLC0;Q2M296;Q2M296-2	.;.;MTHSD_HUMAN;.	V	159;161;161;160	ENSP00000370612:E161V;ENSP00000354152:E161V;ENSP00000326777:E160V	ENSP00000326777:E160V	E	-	2	0	MTHFSD	85133281	1.000000	0.71417	0.702000	0.30337	0.101000	0.19017	7.264000	0.78432	2.111000	0.64477	0.533000	0.62120	GAA		0.572	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		A	86575780	T	A	86575780	3	1	374	1	0	0	0	0	1	0	0	0	9935	1783	62	5	681	5	MTHFSD	16	86575780	Missense_Mutation	SNP	T	TCGA-BP-4807-01A-01D-1373-10	17681868	86575780	3778973	45	20792											
SPAG5	10615	hgsc.bcm.edu;ucsc.edu	37	17	26911463	26911463	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr17:26911463C>G	ENST00000321765.5	-	12	2529	c.2197G>C	c.(2197-2199)Gac>Cac	p.D733H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	733	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AGCTGGCTGTCCATGTTGGCC	0.502																																																0													179	168	172					17																	26911463		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2197G>C	17.37:g.26911463C>G	ENSP00000323300:p.Asp733His		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689441	0.48097	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	6.02	5.04	0.67666	.	0.283413	0.30510	N	0.009472	T	0.25791	0.0628	N	0.08118	0	0.24779	N	0.99282	P	0.46220	0.874	P	0.45610	0.487	T	0.11591	-1.0581	9	0.62326	D	0.03	-3.8262	13.1086	0.59261	0.0:0.8197:0.1803:0.0	.	733	Q96R06	SPAG5_HUMAN	H	733;230	.	ENSP00000323300:D733H	D	-	1	0	SPAG5	23935590	0.317000	0.24589	0.891000	0.34965	0.562000	0.35680	1.644000	0.37228	1.516000	0.48900	0.650000	0.86243	GAC		0.502	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		G	26911463	C	G	26911463	3	3	374	1	0	0	0	0	1	0	0	0	14987	855	30	4	1436	4	SPAG5	17	26911463	Missense_Mutation	SNP	C	TCGA-BP-4807-01A-01D-1373-10		26911463	54283747	46	20793											
RNF135	84282	hgsc.bcm.edu;ucsc.edu	37	17	29311739	29311739	+	Silent	SNP	A	A	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr17:29311739A>T	ENST00000328381.5	+	2	1350	c.477A>T	c.(475-477)tcA>tcT	p.S159S	RNF135_ENST00000324689.4_Silent_p.S159S|RNF135_ENST00000535306.2_Silent_p.S159S|RNF135_ENST00000443677.2_Intron	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	159					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGCCCCTATCAGAATCTGGAC	0.512																																																1	Unknown(1)	central_nervous_system(1)											110	114	112					17																	29311739		2203	4300	6503	SO:0001819	synonymous_variant	84282			AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"RING-type (C3HC4) zinc fingers"	21158	protein-coding gene	gene with protein product	"riplet"	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.477A>T	17.37:g.29311739A>T			A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Silent	SNP	ENST00000328381.5	37	CCDS11262.1																																																																																				0.512	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		T	29311739	A	T	29311739	2	4	374	1	0	0	0	0	0	0	0	1	13446	175	7	5		5	RNF135	17	29311739	Silent	SNP	A	TCGA-BP-4807-01A-01D-1373-10	2400276	29311739	51883471	47	20794											
TOP2A	7153	hgsc.bcm.edu;ucsc.edu	37	17	38556798	38556798	+	Missense_Mutation	SNP	C	C	T	rs202231304		TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr17:38556798C>T	ENST00000423485.1	-	22	2940	c.2782G>A	c.(2782-2784)Gtc>Atc	p.V928I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	928					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CATGTTCTGACGGGAAGCTCT	0.358													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18104	0.0		0.0	False		,,,				2504	0.0															0								T	ILE/VAL	2,3636		0,2,1817	75	64	68		2782	-3.1	0.9	17		68	1,8163		0,1,4081	yes	missense	TOP2A	NM_001067.3	29	0,3,5898	TT,TC,CC		0.0122,0.055,0.0254	benign	928/1532	38556798	3,11799	1819	4082	5901	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2782G>A	17.37:g.38556798C>T	ENSP00000411532:p.Val928Ile		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	c	1.473	-0.559191	0.03967	5.5E-4	1.22E-4	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.22336	1.96	5.31	-3.07	0.05363	DNA topoisomerase, type IIA, subunit A/C-terminal (2);Arginine repressor, C-terminal (1);DNA topoisomerase, type IIA, central (1);	0.104194	0.64402	N	0.000004	T	0.07369	0.0186	N	0.03999	-0.3	0.29394	N	0.862428	B	0.09022	0.002	B	0.13407	0.009	T	0.36311	-0.9753	10	0.02654	T	1	.	14.9452	0.71026	0.0:0.7148:0.0:0.2852	.	928	P11388	TOP2A_HUMAN	I	928;1008;951;964	ENSP00000411532:V928I	ENSP00000269577:V1008I	V	-	1	0	TOP2A	35810324	0.088000	0.21588	0.912000	0.35992	0.952000	0.60782	0.532000	0.23067	-0.802000	0.04421	-2.243000	0.00286	GTC		0.358	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			T	38556798	C	T	38556798	3	4	374	1	0	0	0	0	1	0	0	0	16370	536	19	1	1869	1	TOP2A	17	38556798	Missense_Mutation	SNP	C	TCGA-BP-4807-01A-01D-1373-10	9245059	38556798	42638412	48	20795											
CLTC	1213	hgsc.bcm.edu	37	17	57763101	57763101	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr17:57763101T>G	ENST00000269122.3	+	30	5033	c.4759T>G	c.(4759-4761)Tgg>Ggg	p.W1587G	CLTC_ENST00000393043.1_Missense_Mutation_p.W1587G|CLTC_ENST00000579456.1_Missense_Mutation_p.W524G	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1587	Heavy chain arm.|Proximal segment.|Trimerization. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGAAACTGCATGGAGGCACAA	0.423			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													175	161	166					17																	57763101		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4759T>G	17.37:g.57763101T>G	ENSP00000269122:p.Trp1587Gly		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247336	0.59103	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.42131	0.98;0.98	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	M	0.91300	3.195	0.80722	D	1	B;B	0.32283	0.097;0.362	B;P	0.45610	0.109;0.487	T	0.71279	-0.4640	10	0.72032	D	0.01	.	15.211	0.73225	0.0:0.0:0.0:1.0	.	1587;1587	Q00610;Q00610-2	CLH1_HUMAN;.	G	1587	ENSP00000269122:W1587G;ENSP00000376763:W1587G	ENSP00000269122:W1587G	W	+	1	0	CLTC	55117883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.059000	0.61396	0.477000	0.44152	TGG		0.423	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		G	57763101	T	G	57763101	3	3	374	1	0	0	0	0	1	0	0	0	3568	1464	51	5	4877	5	CLTC	17	57763101	Missense_Mutation	SNP	T	TCGA-BP-4807-01A-01D-1373-10	19206303	57763101	23432109	49	20796											
LRRC45	201255	hgsc.bcm.edu;ucsc.edu	37	17	79986136	79986136	+	Silent	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr17:79986136C>T	ENST00000306688.3	+	10	1416	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	358						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGTCTAAACTCCTCAGAGACT	0.622																																																0													29	28	28					17																	79986136		2171	4284	6455	SO:0001819	synonymous_variant	201255			BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1074C>T	17.37:g.79986136C>T				Silent	SNP	ENST00000306688.3	37	CCDS11797.1																																																																																				0.622	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		T	79986136	C	T	79986136	2	4	374	1	0	0	0	0	0	0	0	1	9004	842	30	2		2	LRRC45	17	79986136	Silent	SNP	C	TCGA-BP-4807-01A-01D-1373-10	22223035	79986136	1209074	50	20797											
ATP8B3	148229	hgsc.bcm.edu	37	19	1783237	1783239	+	In_Frame_Del	DEL	CTC	CTC	-	rs530525816	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:1783237_1783239delCTC	ENST00000310127.6	-	29	3929_3931	c.3691_3693delGAG	c.(3691-3693)gagdel	p.E1231del	ATP8B3_ENST00000539485.1_In_Frame_Del_p.E1241del|ATP8B3_ENST00000525591.1_In_Frame_Del_p.E1194del	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1231					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGAAAATCTCCTCGCTGGGG	0.586														7	0.00139776	0.0	0.0	5008	,	,		17022	0.0		0.005	False		,,,				2504	0.002															0									,	6,3804		0,6,1899					,	-1	0			33	33,7861		0,33,3914	no	coding,coding	ATP8B3	NM_138813.2,NM_001178002.1	,	0,39,5813	A1A1,A1R,RR		0.418,0.1575,0.3332	,	,		39,11665				SO:0001651	inframe_deletion	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3691_3693delGAG	19.37:g.1783240_1783242delCTC	ENSP00000311336:p.Glu1231del		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	In_Frame_Del	DEL	ENST00000310127.6	37	CCDS45901.1																																																																																				0.586	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		-	1783239	CTC	-	1783237	7	5	374	1	0	1	0	1	0	0	0	0	1196	912	32	0	213	0	ATP8B3	19	1783237	In_Frame_Del	DEL	CTC	TCGA-BP-4807-01A-01D-1373-10		1783237	57345746	51	20798											
MUC16	94025	hgsc.bcm.edu	37	19	9047853	9047853	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:9047853G>C	ENST00000397910.4	-	5	33981	c.33778C>G	c.(33778-33780)Ccg>Gcg	p.P11260A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11262	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGTAAACGGCTCACCAGTG	0.483																																																0													67	60	62					19																	9047853		1940	4145	6085	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33778C>G	19.37:g.9047853G>C	ENSP00000381008:p.Pro11260Ala		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.164	0.215872	0.09810	.	.	ENSG00000181143	ENST00000397910	T	0.03094	4.05	2.78	1.74	0.24563	.	.	.	.	.	T	0.04634	0.0126	L	0.34521	1.04	.	.	.	P	0.44659	0.84	P	0.46850	0.529	T	0.26985	-1.0087	8	0.87932	D	0	.	5.5181	0.16918	0.1586:0.0:0.8414:0.0	.	11260	B5ME49	.	A	11260	ENSP00000381008:P11260A	ENSP00000381008:P11260A	P	-	1	0	MUC16	8908853	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.238000	0.08977	0.714000	0.32081	0.556000	0.70494	CCG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9047853	G	C	9047853	3	2	374	1	0	0	0	0	1	0	0	0	9975	1203	42	4	10065	4	MUC16	19	9047853	Missense_Mutation	SNP	G	TCGA-BP-4807-01A-01D-1373-10	7264616	9047853	50081130	52	20799											
ZNF433	163059	hgsc.bcm.edu	37	19	12126886	12126886	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:12126886A>C	ENST00000344980.6	-	4	966	c.796T>G	c.(796-798)Tcc>Gcc	p.S266A	ZNF433_ENST00000419886.2_Missense_Mutation_p.S231A|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AGGCATGTGGAACTATGGAAT	0.408																																																0													87	87	87					19																	12126886		2202	4299	6501	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.796T>G	19.37:g.12126886A>C	ENSP00000339767:p.Ser266Ala		Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	A	2.247	-0.372355	0.05034	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.07327	3.2;3.2	1.07	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	L	0.42744	1.35	0.09310	N	1	B	0.12013	0.005	B	0.18561	0.022	T	0.46527	-0.9185	9	0.15952	T	0.53	.	2.4256	0.04459	0.3265:0.0:0.325:0.3485	.	266	Q8N7K0	ZN433_HUMAN	A	231;266	ENSP00000393416:S231A;ENSP00000339767:S266A	ENSP00000339767:S266A	S	-	1	0	ZNF433	11987886	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-0.359000	0.07632	-0.546000	0.06216	0.254000	0.18369	TCC		0.408	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		C	12126886	A	C	12126886	3	2	374	1	0	0	0	0	1	0	0	0	17912	246	9	5	1229	5	ZNF433	19	12126886	Missense_Mutation	SNP	A	TCGA-BP-4807-01A-01D-1373-10	3079033	12126886	47002097	53	20800											
IL27RA	9466	hgsc.bcm.edu;ucsc.edu	37	19	14157032	14157032	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:14157032C>T	ENST00000263379.2	+	7	960	c.835C>T	c.(835-837)Cca>Tca	p.P279S		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	279					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGAGCTGAGTCCAGAAGGAAT	0.582																																					Colon(164;1849 1896 4443 37792 47834)											0													159	159	159					19																	14157032		2203	4300	6503	SO:0001583	missense	9466			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.835C>T	19.37:g.14157032C>T	ENSP00000263379:p.Pro279Ser		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	0.700	-0.791116	0.02884	.	.	ENSG00000104998	ENST00000263379	T	0.60171	0.21	3.9	0.323	0.15893	.	2.498820	0.01926	N	0.040873	T	0.32852	0.0843	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17379	-1.0371	10	0.11485	T	0.65	-8.9008	3.2729	0.06888	0.2047:0.562:0.0:0.2332	.	279	Q6UWB1	I27RA_HUMAN	S	279	ENSP00000263379:P279S	ENSP00000263379:P279S	P	+	1	0	IL27RA	14018032	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.032000	0.12266	0.339000	0.23719	-0.259000	0.10710	CCA		0.582	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		T	14157032	C	T	14157032	3	4	374	1	0	0	0	0	1	0	0	0	7683	855	30	2	861	2	IL27RA	19	14157032	Missense_Mutation	SNP	C	TCGA-BP-4807-01A-01D-1373-10	2030146	14157032	44971951	54	20801											
CARD8	22900	hgsc.bcm.edu	37	19	48735017	48735018	+	Frame_Shift_Ins	INS	-	-	TT	rs146319637|rs140826611	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:48735017_48735018insTT	ENST00000359009.4	-	4	438_439	c.126_127insAA	c.(124-129)aaagtcfs	p.V43fs	CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.V98fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.V148fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.V148fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.V148fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.V148fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.V98fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.V98fs|ZNF114_ENST00000597695.1_Intron			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TCAAAACAGACTTTAGAAGCAT	0.376														211	0.0421326	0.0023	0.0274	5008	,	,		21883	0.0575		0.0527	False		,,,				2504	0.0798															0									,,,,	47,4217		0,47,2085					,,,,	-0.7	0		dbSNP_134	104	487,7767		16,455,3656	yes	frameshift,frameshift,frameshift,frameshift,frameshift	CARD8	NM_014959.3,NM_001184903.1,NM_001184902.1,NM_001184901.1,NM_001184900.1	,,,,	16,502,5741	A1A1,A1R,RR		5.9002,1.1023,4.2659	,,,,	,,,,		534,11984				SO:0001589	frameshift_variant	22900			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.125_126dupAA	19.37:g.48735018_48735019dupTT	ENSP00000351901:p.Val43fs		B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37																																																																																					0.376	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		TT	48735018	-	TT	48735017	7	5	374	1	0	1	1	0	0	0	0	0	2653	565	20	0	1199	0	CARD8	19	48735017	Frame_Shift_Ins	INS	-	TCGA-BP-4807-01A-01D-1373-10	34577985	48735017	10393966	55	20802											
NLRP11	204801	hgsc.bcm.edu	37	19	56320980	56320980	+	Silent	SNP	G	G	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:56320980G>C	ENST00000589093.1	-	3	1089	c.996C>G	c.(994-996)ctC>ctG	p.L332L	NLRP11_ENST00000360133.3_Silent_p.L332L|NLRP11_ENST00000443188.1_Silent_p.L332L|NLRP11_ENST00000592953.1_Silent_p.L233L|NLRP11_ENST00000589824.2_Silent_p.L332L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	332	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACAGACCCACGAGTATTTCAT	0.527																																																0													45	42	43					19																	56320980		2203	4300	6503	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.996C>G	19.37:g.56320980G>C			C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	CCDS12935.1																																																																																				0.527	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		C	56320980	G	C	56320980	2	2	374	1	0	0	0	0	0	0	0	1	10475	1045	37	4		4	NLRP11	19	56320980	Silent	SNP	G	TCGA-BP-4807-01A-01D-1373-10	7585963	56320980	2808003	56	20803											
SON	6651	hgsc.bcm.edu;ucsc.edu	37	21	34929511	34929511	+	Silent	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr21:34929511T>C	ENST00000356577.4	+	4	6685	c.6210T>C	c.(6208-6210)tgT>tgC	p.C2070C	SON_ENST00000300278.4_Silent_p.C2070C|SON_ENST00000381679.4_Silent_p.C2070C|SON_ENST00000290239.6_Silent_p.C2070C|SON_ENST00000381692.2_Silent_p.C98C	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2070					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTGCCATGTGTGCTAAGGCTG	0.408																																																0													74	66	68					21																	34929511		2203	4300	6503	SO:0001819	synonymous_variant	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6210T>C	21.37:g.34929511T>C			D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	5.495	0.276314	0.10403	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.41	4.26	0.50523	.	.	.	.	.	T	0.61400	0.2344	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59568	-0.7430	4	.	.	.	.	10.959	0.47374	0.0:0.0732:0.0:0.9268	.	.	.	.	A	1065	.	.	V	+	2	0	SON	33851381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.508000	0.53378	2.188000	0.69820	0.533000	0.62120	GTG		0.408	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34929511	T	C	34929511	2	2	374	1	0	0	0	0	0	0	0	1	14932	1702	59	3		3	SON	21	34929511	Silent	SNP	T	TCGA-BP-4807-01A-01D-1373-10		34929511	13200384	57	20804											
LAMP2	3920	hgsc.bcm.edu;ucsc.edu	37	X	119562465	119562465	+	IGR	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chrX:119562465A>G	ENST00000200639.4	-	0	1867				LAMP2_ENST00000434600.2_Silent_p.A370A|LAMP2_ENST00000538785.1_Silent_p.A259A			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GGTCAGAGTCAGCAGAACATT	0.373																																																0													74	59	63					X																	119562465		1568	3582	5150	SO:0001628	intergenic_variant	3920			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301		X.37:g.119562465A>G			A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	37	CCDS14599.1																																																																																				0.373	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			G	119562465	A	G	119562465	1	3	374	0	1	0	0	0	0	0	0	0	8620	175	7	3		3	LAMP2	23	119562465	IGR	SNP	A	TCGA-BP-4807-01A-01D-1373-10		119562465	35708095	58	20805											
SEPN1	57190	hgsc.bcm.edu;ucsc.edu	37	1	26136292	26136293	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:26136292_26136293delCT	ENST00000374315.1	+	6	927_928	c.889_890delCT	c.(889-891)ctcfs	p.L297fs	SEPN1_ENST00000354177.4_Frame_Shift_Del_p.L297fs|SEPN1_ENST00000361547.2_Frame_Shift_Del_p.L331fs	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	331						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CGACTTCCGGCTCTTCGTGCCC	0.639																																																0																																										SO:0001589	frameshift_variant	57190			AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.889_890delCT	1.37:g.26136294_26136295delCT	ENSP00000363434:p.Leu297fs		A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Frame_Shift_Del	DEL	ENST00000374315.1	37	CCDS41283.1																																																																																				0.639	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		-	26136293	CT	-	26136292	7	5	375	1	0	1	0	1	0	0	0	0	14062	797	28	0	1017	0	SEPN1	1	26136292	Frame_Shift_Del	DEL	CT	TCGA-BP-4960-01A-01D-1462-08		26136292	223114329	1	20806											
HSPB11	51668	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54405733	54405733	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:54405733A>T	ENST00000194214.5	-	2	412	c.23T>A	c.(22-24)cTg>cAg	p.L8Q	HSPB11_ENST00000371378.2_Missense_Mutation_p.L8Q|HSPB11_ENST00000371377.3_Missense_Mutation_p.L8Q|HSPB11_ENST00000371376.1_Missense_Mutation_p.L8Q	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	8					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)	p.L8Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TTCAGAGCTCAGACAGAGATC	0.323																																																1	Substitution - Missense(1)	kidney(1)											122	108	113					1																	54405733		1806	4076	5882	SO:0001583	missense	51668			AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"Intraflagellar transport homologs", "Heat shock proteins / HSPB"	25019	protein-coding gene	gene with protein product	"intraflagellar transport 25 homolog (Chlamydomonas)"		"chromosome 1 open reading frame 41"	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.23T>A	1.37:g.54405733A>T	ENSP00000194214:p.Leu8Gln		A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	37	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.605147	0.66445	.	.	ENSG00000081870	ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.55	3.26	0.37387	Galactose-binding domain-like (1);	0.156920	0.43579	D	0.000555	T	0.78799	0.4340	L	0.58810	1.83	0.33558	D	0.596975	P;P	0.48640	0.595;0.913	B;P	0.48552	0.261;0.581	T	0.81870	-0.0734	10	0.62326	D	0.03	-16.6562	6.4595	0.21948	0.8084:0.0:0.1916:0.0	.	8;8	A6NIR2;Q9Y547	.;HSB11_HUMAN	Q	8	ENSP00000194214:L8Q;ENSP00000360429:L8Q;ENSP00000360428:L8Q;ENSP00000360427:L8Q	ENSP00000194214:L8Q	L	-	2	0	HSPB11	54178321	0.988000	0.35896	1.000000	0.80357	0.918000	0.54935	1.333000	0.33816	0.547000	0.28938	0.533000	0.62120	CTG		0.323	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	NM_016126		T	54405733	A	T	54405733	3	4	375	1	0	0	0	0	1	0	0	0	7421	188	7	5	431	5	HSPB11	1	54405733	Missense_Mutation	SNP	A	TCGA-BP-4960-01A-01D-1462-08	28269441	54405733	194844888	2	20807											
LRRIQ3	127255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	74575231	74575231	+	Silent	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:74575231C>T	ENST00000395089.1	-	4	713	c.714G>A	c.(712-714)gtG>gtA	p.V238V	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000354431.4_Silent_p.V238V|LRRIQ3_ENST00000370909.2_Silent_p.V130V			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	238	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.							p.V238V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGTGGAAAAACACAGGGCTGA	0.318																																																1	Substitution - coding silent(1)	kidney(1)											105	90	94					1																	74575231		1784	4051	5835	SO:0001819	synonymous_variant	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.714G>A	1.37:g.74575231C>T			A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	CCDS41350.1																																																																																				0.318	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		T	74575231	C	T	74575231	2	4	375	1	0	0	0	0	0	0	0	1	9032	465	17	2		2	LRRIQ3	1	74575231	Silent	SNP	C	TCGA-BP-4960-01A-01D-1462-08	20169498	74575231	174675390	3	20808											
LPHN2	23266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	82408996	82408996	+	Silent	SNP	T	T	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:82408996T>C	ENST00000370728.1	+	8	1386	c.741T>C	c.(739-741)taT>taC	p.Y247Y	LPHN2_ENST00000271029.4_Silent_p.Y247Y|LPHN2_ENST00000370725.1_Silent_p.Y247Y|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Silent_p.Y247Y|LPHN2_ENST00000319517.6_Silent_p.Y247Y|LPHN2_ENST00000359929.3_Silent_p.Y247Y|LPHN2_ENST00000370717.2_Silent_p.Y247Y|LPHN2_ENST00000370730.1_Silent_p.Y247Y|LPHN2_ENST00000335786.5_Silent_p.Y247Y|LPHN2_ENST00000394879.1_Silent_p.Y247Y|LPHN2_ENST00000370721.1_Silent_p.Y251Y|LPHN2_ENST00000370713.1_Silent_p.Y247Y|LPHN2_ENST00000370715.1_Silent_p.Y247Y|LPHN2_ENST00000370723.1_Silent_p.Y247Y			O95490	LPHN2_HUMAN	latrophilin 2	247	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.Y247Y(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAATTAACTATGCCAACTACC	0.403																																																2	Substitution - coding silent(2)	kidney(2)											124	122	122					1																	82408996		2203	4299	6502	SO:0001819	synonymous_variant	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.741T>C	1.37:g.82408996T>C			A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	T	3.441	-0.114101	0.06881	.	.	ENSG00000117114	ENST00000449420	.	.	.	5.63	3.23	0.37069	.	.	.	.	.	T	0.47173	0.1431	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44081	-0.9351	4	.	.	.	.	10.4287	0.44393	0.0:0.1359:0.0:0.8641	.	.	.	.	T	115	.	.	M	+	2	0	LPHN2	82181584	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.601000	0.36773	0.923000	0.37045	0.374000	0.22700	ATG		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		C	82408996	T	C	82408996	2	2	375	1	0	0	0	0	0	0	0	1	8918	1471	51	3		3	LPHN2	1	82408996	Silent	SNP	T	TCGA-BP-4960-01A-01D-1462-08	7833765	82408996	166841625	4	20809											
PPM1J	333926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113255367	113255367	+	Splice_Site	SNP	A	A	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:113255367A>G	ENST00000309276.6	-	3	903	c.728T>C	c.(727-729)aTg>aCg	p.M243T	PPM1J_ENST00000464951.1_Splice_Site_p.M37T|RP11-426L16.9_ENST00000566195.1_RNA|RP11-426L16.10_ENST00000606505.1_5'Flank|PPM1J_ENST00000359994.4_Splice_Site_p.M37T|RP11-426L16.10_ENST00000471038.2_5'Flank	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	243	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)	p.M243T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCACTCACCATGAGCTGGAA	0.587																																																1	Substitution - Missense(1)	kidney(1)											92	89	90					1																	113255367		2203	4300	6503	SO:0001630	splice_region_variant	333926			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.729+1T>C	1.37:g.113255367A>G			B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	CCDS855.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173086	0.78452	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.08546	3.08;3.08	5.84	5.84	0.93424	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.12860	0.0312	L	0.33339	1.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.986	T	0.02860	-1.1101	10	0.72032	D	0.01	-27.3636	15.8659	0.79063	1.0:0.0:0.0:0.0	.	243;37	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	T	243;37	ENSP00000308926:M243T;ENSP00000353088:M37T	ENSP00000308926:M243T	M	-	2	0	PPM1J	113056890	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.063000	0.76714	2.234000	0.73211	0.459000	0.35465	ATG		0.587	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167	Missense_Mutation	G	113255367	A	G	113255367	5	3	375	1	0	0	0	0	0	0	1	0	12347	231	8	3	821	3	PPM1J	1	113255367	Splice_Site	SNP	A	TCGA-BP-4960-01A-01D-1462-08	30846371	113255367	135995254	5	20810											
LRIG2	9860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113657274	113657274	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:113657274C>G	ENST00000361127.5	+	15	2504	c.2306C>G	c.(2305-2307)tCt>tGt	p.S769C	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	769	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S769C(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGCATTATGTCTAACACCCTT	0.463																																																1	Substitution - Missense(1)	kidney(1)											176	156	163					1																	113657274		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2306C>G	1.37:g.113657274C>G	ENSP00000355396:p.Ser769Cys		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396533	0.83011	.	.	ENSG00000198799	ENST00000361127	T	0.68765	-0.35	5.39	5.39	0.77823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	M	0.67700	2.07	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.80204	-0.1479	10	0.72032	D	0.01	.	19.1506	0.93487	0.0:1.0:0.0:0.0	.	769	O94898	LRIG2_HUMAN	C	769	ENSP00000355396:S769C	ENSP00000355396:S769C	S	+	2	0	LRIG2	113458797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.510000	0.84645	0.561000	0.74099	TCT		0.463	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		G	113657274	C	G	113657274	3	3	375	1	0	0	0	0	1	0	0	0	8947	913	32	4	2364	4	LRIG2	1	113657274	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08	401907	113657274	135593347	6	20811											
OR6K2	81448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158670021	158670021	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:158670021G>T	ENST00000359610.2	-	1	465	c.422C>A	c.(421-423)aCc>aAc	p.T141N		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T141N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGTCAGTTGGGTACATAGCTT	0.468																																																1	Substitution - Missense(1)	kidney(1)											123	109	114					1																	158670021		2203	4300	6503	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.422C>A	1.37:g.158670021G>T	ENSP00000352626:p.Thr141Asn		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	8.304	0.820667	0.16678	.	.	ENSG00000196171	ENST00000359610	T	0.37752	1.18	4.7	0.32	0.15878	GPCR, rhodopsin-like superfamily (1);	0.662694	0.12387	N	0.473391	T	0.10551	0.0258	L	0.33668	1.02	0.19945	N	0.999948	B	0.27013	0.166	B	0.32583	0.148	T	0.38779	-0.9645	10	0.23302	T	0.38	-1.0135	7.9861	0.30213	0.4203:0.0:0.5797:0.0	.	141	Q8NGY2	OR6K2_HUMAN	N	141	ENSP00000352626:T141N	ENSP00000352626:T141N	T	-	2	0	OR6K2	156936645	0.000000	0.05858	0.215000	0.23724	0.768000	0.43524	-0.152000	0.10159	0.175000	0.19841	0.650000	0.86243	ACC		0.468	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		T	158670021	G	T	158670021	3	4	375	1	0	0	0	0	1	0	0	0	11204	1261	44	4	556	4	OR6K2	1	158670021	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	45012747	158670021	90580600	7	20812											
TBX19	9095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	168260459	168260459	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:168260459C>T	ENST00000367821.3	+	2	316	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	89					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L89F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CATGTACTCCCTCCTGCTGGA	0.557																																																1	Substitution - Missense(1)	kidney(1)											137	123	127					1																	168260459		2203	4300	6503	SO:0001583	missense	9095			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"T-boxes"	11596	protein-coding gene	gene with protein product	"TBS 19"	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.265C>T	1.37:g.168260459C>T	ENSP00000356795:p.Leu89Phe		Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.507|1.507	-0.550399|-0.550399	0.03996|0.03996	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969	D|.	0.82167|.	-1.58|.	4.99|4.99	2.95|2.95	0.34219|0.34219	p53-like transcription factor, DNA-binding (1);|.	0.279585|.	0.34067|.	N|.	0.004293|.	T|T	0.12178|0.12178	0.0296|0.0296	N|N	0.25890|0.25890	0.77|0.77	.|.	.|.	.|.	B;B|.	0.25048|.	0.117;0.034|.	B;B|.	0.21360|.	0.034;0.023|.	T|T	0.16305|0.16305	-1.0407|-1.0407	9|4	0.21014|.	T|.	0.42|.	.|.	2.2504|2.2504	0.04042|0.04042	0.2833:0.4824:0.0:0.2343|0.2833:0.4824:0.0:0.2343	.|.	89;20|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	F|L	89;29|21	ENSP00000356795:L89F|.	ENSP00000356795:L89F|.	L|P	+|+	1|2	0|0	TBX19|TBX19	166527083|166527083	0.870000|0.870000	0.30015|0.30015	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	1.380000|1.380000	0.34351|0.34351	1.312000|1.312000	0.45043|0.45043	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.557	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		T	168260459	C	T	168260459	3	4	375	1	0	0	0	0	1	0	0	0	15659	681	24	2	271	2	TBX19	1	168260459	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08	9590438	168260459	80990162	8	20813											
BAT2L2	23215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171560943	171560943	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:171560943C>A	ENST00000338920.4	+	34	8648	c.8411C>A	c.(8410-8412)cCa>cAa	p.P2804Q	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2885Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2739Q|PRRC2C_ENST00000367742.3_Missense_Mutation_p.P2806Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2883					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P2885Q(2)									AGAACTGGACCAATCAAACCT	0.493																																																2	Substitution - Missense(2)	kidney(2)											91	92	91					1																	171560943		1838	4090	5928	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8411C>A	1.37:g.171560943C>A	ENSP00000343629:p.Pro2804Gln		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.34|15.34	2.803540|2.803540	0.50315|0.50315	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.08634|.	3.44;3.13;3.08;3.07|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|.	.|.	.|.	.|.	T|T	0.46889|0.46889	0.1416|0.1416	L|L	0.27053|0.27053	0.805|0.805	0.45634|0.45634	D|D	0.998569|0.998569	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.994;0.999|.	T|T	0.38329|0.38329	-0.9666|-0.9666	9|5	0.62326|.	D|.	0.03|.	.|.	19.5655|19.5655	0.95391|0.95391	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2739;2804|.	B7WNZ6;Q9Y520-4|.	.;.|.	Q|K	2885;2837;2739;2806;2804;2640|1287	ENSP00000375928:P2885Q;ENSP00000410219:P2739Q;ENSP00000356716:P2806Q;ENSP00000343629:P2804Q|.	ENSP00000343629:P2804Q|.	P|Q	+|+	2|1	0|0	PRRC2C|PRRC2C	169827566|169827566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.091000|7.091000	0.76923|0.76923	2.639000|2.639000	0.89480|0.89480	0.591000|0.591000	0.81541|0.81541	CCA|CAA		0.493	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		A	171560943	C	A	171560943	3	1	375	1	0	0	0	0	1	0	0	0	1321	594	21	4	8433	4	BAT2L2	1	171560943	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08	3300484	171560943	77689678	9	20814											
TNR	7143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	175365838	175365838	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:175365838G>A	ENST00000367674.2	-	5	1790	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	TNR_ENST00000263525.2_Missense_Mutation_p.P361L			Q92752	TENR_HUMAN	tenascin R	361	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.P361L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGGGCCGTCGGCTGGTAAGA	0.612																																																1	Substitution - Missense(1)	kidney(1)											67	68	67					1																	175365838		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1082C>T	1.37:g.175365838G>A	ENSP00000356646:p.Pro361Leu		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	33	5.194032	0.94960	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58797	0.31;0.31	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80995	-0.1133	10	0.72032	D	0.01	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	361	Q92752	TENR_HUMAN	L	361	ENSP00000356646:P361L;ENSP00000263525:P361L	ENSP00000263525:P361L	P	-	2	0	TNR	173632461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.328000	0.96403	2.826000	0.97356	0.655000	0.94253	CCG		0.612	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175365838	G	A	175365838	3	1	375	1	0	0	0	0	1	0	0	0	16343	1116	39	1	3070	1	TNR	1	175365838	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	3804895	175365838	73884783	10	20815											
NUP133	55746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	229641823	229641823	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:229641823G>T	ENST00000261396.3	-	2	356	c.265C>A	c.(265-267)Cct>Act	p.P89T	RP4-613A2.1_ENST00000417605.1_RNA|NUP133_ENST00000537506.1_Missense_Mutation_p.P73T|NUP133_ENST00000366678.3_Missense_Mutation_p.P89T	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	89					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.P89T(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACTTTAACAGGAAGAGAAGAT	0.408																																																1	Substitution - Missense(1)	kidney(1)											174	162	166					1																	229641823		2203	4300	6503	SO:0001583	missense	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.265C>A	1.37:g.229641823G>T	ENSP00000261396:p.Pro89Thr		B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375116	0.82682	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506;ENST00000366678	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85094	0.0953	10	0.87932	D	0	-1.3152	19.0053	0.92848	0.0:0.0:1.0:0.0	.	89	Q8WUM0	NU133_HUMAN	T	89;89;89;73;89	ENSP00000261396:P89T;ENSP00000355640:P89T;ENSP00000443496:P73T;ENSP00000355639:P89T	ENSP00000261396:P89T	P	-	1	0	NUP133	227708446	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	8.406000	0.90216	2.469000	0.83416	0.555000	0.69702	CCT		0.408	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		T	229641823	G	T	229641823	3	4	375	1	0	0	0	0	1	0	0	0	10756	1174	41	4	3305	4	NUP133	1	229641823	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	54275985	229641823	19608798	11	20816											
MBOAT2	129642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	9048798	9048798	+	Silent	SNP	A	A	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr2:9048798A>C	ENST00000305997.3	-	4	546	c.348T>G	c.(346-348)acT>acG	p.T116T	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	116					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.T116T(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TATAGACTCGAGTAACTTGGC	0.353																																					Ovarian(194;1699 3813 22401)											1	Substitution - coding silent(1)	kidney(1)											80	75	77					2																	9048798		2203	4300	6503	SO:0001819	synonymous_variant	129642			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"O-acyltransferase (membrane bound) domain containing 2"	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.348T>G	2.37:g.9048798A>C			A9EDR2|Q8NCE7|Q96KY4	Silent	SNP	ENST00000305997.3	37	CCDS1660.1																																																																																				0.353	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		C	9048798	A	C	9048798	2	2	375	1	0	0	0	0	0	0	0	1	9359	291	11	5		5	MBOAT2	2	9048798	Silent	SNP	A	TCGA-BP-4960-01A-01D-1462-08		9048798	234150575	12	20817											
ASB3	100302652	hgsc.bcm.edu;ucsc.edu	37	2	53956692	53956697	+	In_Frame_Del	DEL	TGTCCA	TGTCCA	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	TGTCCA	TGTCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr2:53956692_53956697delTGTCCA	ENST00000263634.3	-	4	500_505	c.366_371delTGGACA	c.(364-372)aatggacag>aag	p.122_124NGQ>K	ASB3_ENST00000406625.2_In_Frame_Del_p.157_159NGQ>K|GPR75-ASB3_ENST00000352846.3_In_Frame_Del_p.160_162NGQ>K|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_In_Frame_Del_p.49_51NGQ>K|GPR75-ASB3_ENST00000406687.1_In_Frame_Del_p.49_51NGQ>K|ASB3_ENST00000498475.2_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		CACATCTATCTGTCCATTTTCAACAG	0.408																																																0																																										SO:0001651	inframe_deletion	51130				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.366_371delTGGACA	2.37:g.53956692_53956697delTGTCCA	ENSP00000263634:p.Asn122_Gln124delinsLys			In_Frame_Del	DEL	ENST00000263634.3	37	CCDS1846.1																																																																																				0.408	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			-	53956697	TGTCCA	-	53956692	7	5	375	1	0	1	0	1	0	0	0	0	1024	1580	55	0	1213	0	ASB3	2	53956692	In_Frame_Del	DEL	TGTCCA	TCGA-BP-4960-01A-01D-1462-08	44907894	53956692	189242681	13	20818											
ALMS1	7840	hgsc.bcm.edu;ucsc.edu	37	2	73717436	73717437	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr2:73717436_73717437insA	ENST00000264448.6	+	10	8458_8459	c.8347_8348insA	c.(8347-8349)gaafs	p.E2783fs	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.E2741fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2783					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAAGATAAAGAAGTGACTATT	0.332																																																0																																										SO:0001589	frameshift_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8349dupA	2.37:g.73717438_73717438dupA	ENSP00000264448:p.Glu2783fs		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Ins	INS	ENST00000264448.6	37	CCDS42697.1																																																																																				0.332	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73717437	-	A	73717436	7	5	375	1	0	1	1	0	0	0	0	0	535	943	33	0	8385	0	ALMS1	2	73717436	Frame_Shift_Ins	INS	-	TCGA-BP-4960-01A-01D-1462-08	19760744	73717436	169481937	14	20819											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191480	10191480	+	Missense_Mutation	SNP	T	T	C	rs121913346		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr3:10191480T>C	ENST00000256474.2	+	3	1313	c.473T>C	c.(472-474)cTg>cCg	p.L158P	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.L117P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158Q(6)|p.L158P(5)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158>?(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGTATACTCTGAAAGAGCGA	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(12)|Deletion - Frameshift(6)|Deletion - In frame(3)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)	kidney(24)	GRCh37	CI024083|CI962364|CM941379	VHL	I|M	rs121913346						89	82	84					3																	10191480		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.473T>C	3.37:g.10191480T>C	ENSP00000256474:p.Leu158Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147521	0.57151	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99848	-7.14;-7.14	4.86	3.66	0.41972	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000003	D	0.99697	0.9885	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97985	1.0351	10	0.87932	D	0	-5.6982	9.9953	0.41896	0.0:0.0:0.1705:0.8295	.	117;158	P40337-2;P40337	.;VHL_HUMAN	P	158;117;76	ENSP00000256474:L158P;ENSP00000344757:L117P	ENSP00000256474:L158P	L	+	2	0	VHL	10166480	1.000000	0.71417	0.991000	0.47740	0.618000	0.37518	5.790000	0.69038	0.947000	0.37659	0.533000	0.62120	CTG		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10191480	T	C	10191480	3	2	375	1	0	0	0	0	1	0	0	0	17167	1580	55	3	483	3	VHL	3	10191480	Missense_Mutation	SNP	T	TCGA-BP-4960-01A-01D-1462-08		10191480	187830950	15	20820											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52649377	52649377	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr3:52649377delT	ENST00000296302.7	-	15	1915	c.1914delA	c.(1912-1914)aaafs	p.K638fs	PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K638fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K653fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.K606fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K638fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K638fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K638fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K653fs			Q86U86	PB1_HUMAN	polybromo 1	638					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAGCTTGAGTTTGGGAGAAG	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													105	93	97					3																	52649377		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1914delA	3.37:g.52649377delT	ENSP00000296302:p.Lys638fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52649377	T	-	52649377	7	5	375	1	0	1	0	1	0	0	0	0	11493	1722	60	0	3050	0	PBRM1	3	52649377	Frame_Shift_Del	DEL	T	TCGA-BP-4960-01A-01D-1462-08	42457897	52649377	145373053	16	20821											
ADAMTS9	56999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	64589693	64589693	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr3:64589693C>T	ENST00000498707.1	-	25	3994	c.3652G>A	c.(3652-3654)Gac>Aac	p.D1218N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D1190N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1218	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1218N(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCACTCTCGTCAGCCACAGAG	0.537																																																1	Substitution - Missense(1)	kidney(1)											111	104	107					3																	64589693		2203	4300	6503	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3652G>A	3.37:g.64589693C>T	ENSP00000418735:p.Asp1218Asn		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770642	0.49680	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.61158	0.13;0.13	5.22	5.22	0.72569	.	0.064453	0.64402	D	0.000011	T	0.59155	0.2173	L	0.47190	1.495	0.80722	D	1	P;B;P	0.35944	0.529;0.198;0.496	B;B;B	0.44163	0.443;0.081;0.33	T	0.61855	-0.6977	10	0.62326	D	0.03	.	14.2271	0.65868	0.0:0.9266:0.0:0.0734	.	1190;1218;1218	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	N	1190;1218	ENSP00000295903:D1190N;ENSP00000418735:D1218N	ENSP00000295903:D1190N	D	-	1	0	ADAMTS9	64564733	0.998000	0.40836	0.971000	0.41717	0.268000	0.26511	4.521000	0.60532	2.721000	0.93114	0.650000	0.86243	GAC		0.537	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			T	64589693	C	T	64589693	3	4	375	1	0	0	0	0	1	0	0	0	273	826	29	2	2215	2	ADAMTS9	3	64589693	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08	11940316	64589693	133432737	17	20822											
NEK11	28990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130748629	130748629	+	5'Flank	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr3:130748629C>G	ENST00000264992.3	-	0	0				NEK11_ENST00000511262.1_Missense_Mutation_p.A26G|NEK11_ENST00000429253.2_Missense_Mutation_p.A26G|NEK11_ENST00000508196.1_Missense_Mutation_p.A26G|NEK11_ENST00000510769.1_Missense_Mutation_p.A26G|NEK11_ENST00000507910.1_Missense_Mutation_p.A26G|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000356918.4_Missense_Mutation_p.A26G|NEK11_ENST00000510688.1_Missense_Mutation_p.A26G|NEK11_ENST00000383366.4_Missense_Mutation_p.A26G|ASTE1_ENST00000514044.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)						DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.A26G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACCTTGATTGCAAGAAGATAC	0.423																																																1	Substitution - Missense(1)	kidney(1)											138	130	133					3																	130748629		2203	4300	6503	SO:0001631	upstream_gene_variant	79858			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644		3.37:g.130748629C>G	Exception_encountered		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051067	0.75960	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.65	5.65	0.86999	Protein kinase-like domain (1);	0.000000	0.52532	D	0.000078	T	0.52306	0.1726	N	0.17872	0.535	0.80722	D	1	P;D;P;P;P	0.89917	0.649;1.0;0.94;0.819;0.649	B;D;P;B;B	0.85130	0.439;0.997;0.535;0.334;0.359	T	0.52011	-0.8632	10	0.41790	T	0.15	.	19.7362	0.96205	0.0:1.0:0.0:0.0	.	26;26;26;26;26	Q8NG66-3;E9PHI8;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	G	26	ENSP00000421549:A26G;ENSP00000397180:A26G;ENSP00000349389:A26G;ENSP00000423458:A26G;ENSP00000425114:A26G;ENSP00000372857:A26G;ENSP00000426662:A26G;ENSP00000421851:A26G	ENSP00000349389:A26G	A	+	2	0	NEK11	132231319	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.560000	0.67332	2.678000	0.91216	0.655000	0.94253	GCA		0.423	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		G	130748629	C	G	130748629	1	3	375	0	1	0	0	0	0	0	0	0	10325	710	25	4		4	NEK11	3	130748629	5'Flank	SNP	C	TCGA-BP-4960-01A-01D-1462-08	66158936	130748629	67273801	18	20823											
PIK3CA	5290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			T	178952085	A	T	178952085	3	4	375	1	0	0	0	0	1	0	0	0	11915	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-BP-4960-01A-01D-1462-08	48203456	178952085	19070345	19	20824											
PGM2	55276	hgsc.bcm.edu;ucsc.edu	37	4	37845989	37845989	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr4:37845989G>A	ENST00000381967.4	+	7	824	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	PGM2_ENST00000544359.1_Missense_Mutation_p.V103M|PGM2_ENST00000537241.1_Missense_Mutation_p.V82M	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	242					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)	p.V242M(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTCTAGGAGCGTGAACAGGGA	0.463																																																1	Substitution - Missense(1)	kidney(1)											144	130	135					4																	37845989		2203	4300	6503	SO:0001583	missense	55276			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.724G>A	4.37:g.37845989G>A	ENSP00000371393:p.Val242Met		B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	6.943	0.543717	0.13250	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T;T	0.63255	-0.03;-0.03;-0.03	5.96	1.23	0.21249	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (3);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.261125	0.42294	D	0.000733	T	0.43831	0.1265	L	0.31845	0.965	0.26238	N	0.978918	B;B	0.27679	0.049;0.185	B;B	0.29862	0.067;0.108	T	0.19451	-1.0305	10	0.27785	T	0.31	-6.2533	4.6769	0.12717	0.4305:0.1559:0.4136:0.0	.	242;103	Q96G03;B4E0G8	PGM2_HUMAN;.	M	242;103;82	ENSP00000371393:V242M;ENSP00000438025:V103M;ENSP00000437342:V82M	ENSP00000371393:V242M	V	+	1	0	PGM2	37522384	0.908000	0.30866	0.326000	0.25389	0.262000	0.26303	1.726000	0.38085	0.407000	0.25591	0.655000	0.94253	GTG		0.463	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		A	37845989	G	A	37845989	3	1	375	1	0	0	0	0	1	0	0	0	11800	1145	40	1	750	1	PGM2	4	37845989	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08		37845989	153308287	20	20825											
SEC31A	22872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83770070	83770070	+	Missense_Mutation	SNP	G	G	T	rs200045009		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr4:83770070G>T	ENST00000395310.2	-	20	2571	c.2389C>A	c.(2389-2391)Cat>Aat	p.H797N	SEC31A_ENST00000348405.4_Missense_Mutation_p.H758N|SEC31A_ENST00000326950.5_Missense_Mutation_p.H758N|SEC31A_ENST00000500777.2_Missense_Mutation_p.H758N|SEC31A_ENST00000443462.2_Missense_Mutation_p.H792N|SEC31A_ENST00000432794.1_Missense_Mutation_p.H797N|SEC31A_ENST00000448323.1_Missense_Mutation_p.H797N|SEC31A_ENST00000264405.5_Missense_Mutation_p.H530N|SEC31A_ENST00000508479.1_Missense_Mutation_p.H797N|SEC31A_ENST00000508502.1_Missense_Mutation_p.H797N|SEC31A_ENST00000509142.1_Missense_Mutation_p.H797N|SEC31A_ENST00000505984.1_Missense_Mutation_p.H758N|SEC31A_ENST00000311785.7_Missense_Mutation_p.H797N|SEC31A_ENST00000355196.2_Missense_Mutation_p.H797N|SEC31A_ENST00000505472.1_Missense_Mutation_p.H797N|SEC31A_ENST00000513858.1_Missense_Mutation_p.H758N	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	797					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.H797N(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGTGATTCATGTCCTGCTACA	0.483																																																2	Substitution - Missense(2)	kidney(2)											143	131	135					4																	83770070		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2389C>A	4.37:g.83770070G>T	ENSP00000378721:p.His797Asn		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.324|8.324	0.824884|0.824884	0.16678|0.16678	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479|ENST00000507828	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.36878|.	1.41;1.27;2.48;2.48;1.33;2.38;2.48;1.41;1.33;1.23;1.27;2.48;2.48;3.3;2.41;2.38|.	5.65|5.65	4.79|4.79	0.61399|0.61399	.|.	0.660442|.	0.15220|.	N|.	0.273993|.	T|T	0.27629|0.27629	0.0679|0.0679	N|N	0.08118|0.08118	0|0	0.22171|0.22171	N|N	0.99932|0.99932	B;B;B;B;B;B;B;B;B|.	0.12630|.	0.003;0.002;0.002;0.001;0.001;0.0;0.006;0.0;0.003|.	B;B;B;B;B;B;B;B;B|.	0.17433|.	0.005;0.005;0.008;0.0;0.003;0.0;0.018;0.001;0.004|.	T|T	0.19095|0.19095	-1.0316|-1.0316	10|5	0.49607|.	T|.	0.09|.	-0.0057|-0.0057	14.4099|14.4099	0.67109|0.67109	0.0:0.1477:0.8523:0.0|0.0:0.1477:0.8523:0.0	.|.	792;758;797;758;758;797;797;797;530|.	B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7|.	.;.;.;.;.;.;.;SC31A_HUMAN;.|.	N|K	758;758;797;792;797;797;797;758;797;797;758;797;797;530;758;797|413	ENSP00000337602:H758N;ENSP00000426886:H758N;ENSP00000378721:H797N;ENSP00000408027:H792N;ENSP00000426569:H797N;ENSP00000407944:H797N;ENSP00000400926:H797N;ENSP00000325087:H758N;ENSP00000309070:H797N;ENSP00000421633:H797N;ENSP00000421464:H758N;ENSP00000424635:H797N;ENSP00000347329:H797N;ENSP00000264405:H530N;ENSP00000424451:H758N;ENSP00000425999:H797N|.	ENSP00000264405:H530N|.	H|T	-|-	1|2	0|0	SEC31A|SEC31A	83989094|83989094	0.912000|0.912000	0.30974|0.30974	0.020000|0.020000	0.16555|0.16555	0.186000|0.186000	0.23388|0.23388	3.677000|3.677000	0.54619|0.54619	1.360000|1.360000	0.45960|0.45960	0.591000|0.591000	0.81541|0.81541	CAT|ACA		0.483	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		T	83770070	G	T	83770070	3	4	375	1	0	0	0	0	1	0	0	0	14004	1377	48	4	1305	4	SEC31A	4	83770070	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	45924081	83770070	107384206	21	20826											
TMEM144	55314	hgsc.bcm.edu	37	4	159138559	159138560	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr4:159138559_159138560insG	ENST00000296529.6	+	5	839_840	c.319_320insG	c.(319-321)tggfs	p.W107fs	TMEM144_ENST00000514558.1_Frame_Shift_Ins_p.W107fs	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	107						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CTTAACTGGCTGGGCAAGCTCA	0.376																																																0																																										SO:0001589	frameshift_variant	55314			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.322dupG	4.37:g.159138562_159138562dupG	ENSP00000296529:p.Trp107fs		D3DP24|Q49A05|Q9NUT3	Frame_Shift_Ins	INS	ENST00000296529.6	37	CCDS3799.1																																																																																				0.376	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		G	159138560	-	G	159138559	7	5	375	1	0	1	1	0	0	0	0	0	16063	1580	55	0	329	0	TMEM144	4	159138559	Frame_Shift_Ins	INS	-	TCGA-BP-4960-01A-01D-1462-08	75368489	159138559	32015717	22	20827											
OXCT1	5019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	41794778	41794778	+	Splice_Site	SNP	C	C	G	rs556336929		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:41794778C>G	ENST00000196371.5	-	12	1333		c.e12+1		OXCT1_ENST00000509987.1_Splice_Site|OXCT1_ENST00000513081.1_5'Flank|OXCT1_ENST00000512084.1_5'Flank|OXCT1_ENST00000510634.1_5'Flank	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1						adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTATTACATACCCTCTAATCA	0.428																																																1	Unknown(1)	kidney(1)											64	60	62					5																	41794778		2203	4300	6503	SO:0001630	splice_region_variant	5019			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1172+1G>C	5.37:g.41794778C>G			B2R5V2|B7Z528	Splice_Site	SNP	ENST00000196371.5	37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139426	0.77775	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9061	0.92462	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OXCT1	41830535	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.410000	0.80065	2.765000	0.95021	0.655000	0.94253	.		0.428	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436	Intron	G	41794778	C	G	41794778	5	3	375	1	0	0	0	0	0	0	1	0	11331	521	18	4	413	4	OXCT1	5	41794778	Splice_Site	SNP	C	TCGA-BP-4960-01A-01D-1462-08		41794778	139120482	23	20828											
ISL1	3670	hgsc.bcm.edu	37	5	50685624	50685624	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:50685624C>T	ENST00000230658.7	+	4	1208	c.623C>T	c.(622-624)gCg>gTg	p.A208V	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.A208V	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	208					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CGGCCAGATGCGCTCATGAAG	0.602																																																0													64	75	71					5																	50685624		2203	4300	6503	SO:0001583	missense	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.623C>T	5.37:g.50685624C>T	ENSP00000230658:p.Ala208Val		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858240	0.91433	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.96365	-3.99;-3.99	5.73	5.73	0.89815	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	N	0.16862	0.45	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	D	0.97157	0.9835	10	0.72032	D	0.01	.	19.8842	0.96908	0.0:1.0:0.0:0.0	.	208	P61371	ISL1_HUMAN	V	208	ENSP00000230658:A208V;ENSP00000422676:A208V	ENSP00000230658:A208V	A	+	2	0	ISL1	50721381	1.000000	0.71417	0.999000	0.59377	0.454000	0.32378	7.726000	0.84824	2.689000	0.91719	0.585000	0.79938	GCG		0.602	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		T	50685624	C	T	50685624	3	4	375	1	0	0	0	0	1	0	0	0	7858	768	27	1	637	1	ISL1	5	50685624	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08	8890846	50685624	130229636	24	20829											
GPX8	493869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54456928	54456928	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:54456928T>G	ENST00000503787.1	+	2	386	c.311T>G	c.(310-312)tTg>tGg	p.L104W	CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.L53W|GPX8_ENST00000296734.6_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000322374.6_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	104					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)	p.L104*(1)|p.L104W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TTCAGCGTGTTGGCTTTTCCC	0.473																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(1)|kidney(1)											89	85	86					5																	54456928		2203	4300	6503	SO:0001583	missense	493869			BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.311T>G	5.37:g.54456928T>G	ENSP00000423822:p.Leu104Trp			Missense_Mutation	SNP	ENST00000503787.1	37	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.850726	0.91277	.	.	ENSG00000164294	ENST00000503787;ENST00000515370	T;T	0.10192	2.9;2.9	5.47	5.47	0.80525	Thioredoxin-like fold (2);	0.142967	0.48286	D	0.000183	T	0.53433	0.1796	H	0.99312	4.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75113	-0.3432	10	0.87932	D	0	.	15.5604	0.76240	0.0:0.0:0.0:1.0	.	53;104	E7ETY7;Q8TED1	.;GPX8_HUMAN	W	104;53	ENSP00000423822:L104W;ENSP00000427466:L53W	ENSP00000423822:L104W	L	+	2	0	GPX8	54492685	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.691000	0.84191	2.081000	0.62600	0.533000	0.62120	TTG		0.473	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397		G	54456928	T	G	54456928	3	3	375	1	0	0	0	0	1	0	0	0	6748	1821	63	5	317	5	GPX8	5	54456928	Missense_Mutation	SNP	T	TCGA-BP-4960-01A-01D-1462-08	3771304	54456928	126458332	25	20830											
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89941846	89941846	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:89941846T>G	ENST00000405460.2	+	16	3056	c.2960T>G	c.(2959-2961)gTg>gGg	p.V987G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	987					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V987G(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGCTAAAGTGGGAAATAGA	0.363																																																1	Substitution - Missense(1)	kidney(1)											108	104	105					5																	89941846		1838	4092	5930	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2960T>G	5.37:g.89941846T>G	ENSP00000384582:p.Val987Gly		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.98|11.98	1.799707|1.799707	0.31869|0.31869	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.28666	.|1.6	5.29|5.29	4.13|4.13	0.48395|0.48395	.|.	.|0.544912	.|0.21180	.|N	.|0.078822	T|T	0.23926|0.23926	0.0579|0.0579	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|P	.|0.37176	.|0.586	.|B	.|0.31191	.|0.125	T|T	0.04242|0.04242	-1.0966|-1.0966	5|10	.|0.72032	.|D	.|0.01	.|.	10.5128|10.5128	0.44872|0.44872	0.0:0.0778:0.0:0.9221|0.0:0.0778:0.0:0.9221	.|.	.|987	.|Q8WXG9	.|GPR98_HUMAN	R|G	575|987	.|ENSP00000384582:V987G	.|ENSP00000296619:V987G	S|V	+|+	3|2	2|0	GPR98|GPR98	89977602|89977602	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.122000|0.122000	0.20287|0.20287	4.937000|4.937000	0.63513|0.63513	0.965000|0.965000	0.38133|0.38133	0.477000|0.477000	0.44152|0.44152	AGT|GTG		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89941846	T	G	89941846	3	3	375	1	0	0	0	0	1	0	0	0	6723	1696	59	5	3022	5	GPR98	5	89941846	Missense_Mutation	SNP	T	TCGA-BP-4960-01A-01D-1462-08	35484918	89941846	90973414	26	20831											
PCDHA9	9752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140230065	140230065	+	Missense_Mutation	SNP	C	C	T	rs572249977		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:140230065C>T	ENST00000532602.1	+	1	3018	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.T662M|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	662	Cadherin 6. {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)	p.T662M(4)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACGGCCACGGCCACTGTG	0.692													.|||	1	0.000199681	0.0	0.0	5008	,	,		14999	0.001		0.0	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)											4	Substitution - Missense(4)	kidney(2)|endometrium(2)											44	47	46					5																	140230065		2197	4266	6463	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1985C>T	5.37:g.140230065C>T	ENSP00000436042:p.Thr662Met		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827628	0.50845	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.57107	0.42;0.42	4.13	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.000000	0.32488	U	0.006025	T	0.75451	0.3851	M	0.91818	3.245	0.28839	N	0.896706	D;D	0.89917	0.997;1.0	D;D	0.87578	0.921;0.998	T	0.72527	-0.4266	10	0.87932	D	0	.	10.4648	0.44600	0.0:0.9083:0.0:0.0917	.	662;662	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	662	ENSP00000436042:T662M;ENSP00000367362:T662M	ENSP00000367362:T662M	T	+	2	0	PCDHA9	140210249	0.966000	0.33281	0.910000	0.35882	0.070000	0.16714	5.308000	0.65768	1.982000	0.57802	0.313000	0.20887	ACG		0.692	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		T	140230065	C	T	140230065	3	4	375	1	0	0	0	0	1	0	0	0	11533	536	19	1	1987	1	PCDHA9	5	140230065	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08	50288219	140230065	40685195	27	20832											
CPEB4	80315	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	173372085	173372085	+	Silent	SNP	A	A	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:173372085A>G	ENST00000265085.5	+	5	2852	c.1398A>G	c.(1396-1398)agA>agG	p.R466R	CPEB4_ENST00000519835.1_Silent_p.R441R|CPEB4_ENST00000517880.1_Silent_p.R59R|CPEB4_ENST00000520867.1_Silent_p.R441R|CPEB4_ENST00000522336.1_Silent_p.R76R|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Silent_p.R449R	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	466					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R466R(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATGGGGAAAGAGTGGAACGAT	0.493																																																1	Substitution - coding silent(1)	kidney(1)											175	156	162					5																	173372085		2203	4300	6503	SO:0001819	synonymous_variant	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1398A>G	5.37:g.173372085A>G			B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.497703	0.26861	.	.	ENSG00000113742	ENST00000519152	.	.	.	5.37	2.97	0.34412	.	.	.	.	.	T	0.45418	0.1341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30822	-0.9965	4	.	.	.	-15.7934	2.4319	0.04473	0.6201:0.1273:0.1299:0.1227	.	.	.	.	G	144	.	.	E	+	2	0	CPEB4	173304691	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.629000	0.24538	0.445000	0.26639	0.533000	0.62120	GAG		0.493	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		G	173372085	A	G	173372085	2	3	375	1	0	0	0	0	0	0	0	1	3805	301	11	3		3	CPEB4	5	173372085	Silent	SNP	A	TCGA-BP-4960-01A-01D-1462-08	33142020	173372085	7543175	28	20833											
FAM136B	387071	broad.mit.edu	37	6	3045892	3045892	+	IGR	SNP	A	A	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr6:3045892A>G								RP1-90J20.11 (18233 upstream) : RP1-40E16.2 (10231 downstream)														p.D92G(1)									AAAGCCAAAGATTCAATAGAT	0.527																																																1	Substitution - Missense(1)	kidney(1)											59	48	51					6																	3045892		692	1591	2283	SO:0001628	intergenic_variant	0																															6.37:g.3045892A>G				Missense_Mutation	SNP		37																																																																																				0	0.527									G	3045892	A	G	3045892	1	3	375	0	1	0	0	0	0	0	0	0	5453	333	12	3		3	FAM136B	6	3045892	IGR	SNP	A	TCGA-BP-4960-01A-01D-1462-08		3045892	168069175	29	20834											
HDGFL1	154150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	22569865	22569865	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr6:22569865G>T	ENST00000230012.3	+	1	188	c.61G>T	c.(61-63)Ggc>Tgc	p.G21C	HDGFL1_ENST00000510882.2_Missense_Mutation_p.G21C	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	21	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.							p.G21C(1)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CAAGTTAAAGGGCTATGCCCA	0.607																																																1	Substitution - Missense(1)	kidney(1)											70	73	72					6																	22569865		2203	4300	6503	SO:0001583	missense	154150			AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.61G>T	6.37:g.22569865G>T	ENSP00000230012:p.Gly21Cys		Q96MJ6	Missense_Mutation	SNP	ENST00000230012.3	37	CCDS34347.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472233	0.63737	.	.	ENSG00000112273	ENST00000230012;ENST00000510882	T;T	0.78126	-1.15;-1.15	3.94	3.06	0.35304	PWWP (3);	0.000000	0.64402	D	0.000001	D	0.89856	0.6836	H	0.97440	4.005	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.92236	0.5796	10	0.87932	D	0	-39.3353	11.9368	0.52878	0.0:0.1773:0.8227:0.0	.	21	Q5TGJ6	HDGL1_HUMAN	C	21	ENSP00000230012:G21C;ENSP00000442129:G21C	ENSP00000230012:G21C	G	+	1	0	HDGFL1	22677844	1.000000	0.71417	0.996000	0.52242	0.725000	0.41563	7.468000	0.80943	1.235000	0.43724	0.491000	0.48974	GGC		0.607	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		T	22569865	G	T	22569865	3	4	375	1	0	0	0	0	1	0	0	0	7021	1232	43	4	63	4	HDGFL1	6	22569865	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	19523973	22569865	148545202	30	20835											
SNX14	57231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	86258079	86258079	+	Silent	SNP	A	A	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr6:86258079A>T	ENST00000314673.3	-	9	983	c.807T>A	c.(805-807)ctT>ctA	p.L269L	SNX14_ENST00000346348.3_Silent_p.L225L|SNX14_ENST00000505648.1_Silent_p.L217L|SNX14_ENST00000513865.1_Silent_p.L269L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Silent_p.L269L	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	269	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.L269L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCTCTCTTATAAGTAAGGTCA	0.294																																																1	Substitution - coding silent(1)	kidney(1)											46	52	50					6																	86258079		2203	4296	6499	SO:0001819	synonymous_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.807T>A	6.37:g.86258079A>T			B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	ENST00000314673.3	37	CCDS5004.1																																																																																				0.294	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		T	86258079	A	T	86258079	2	4	375	1	0	0	0	0	0	0	0	1	14891	349	13	5		5	SNX14	6	86258079	Silent	SNP	A	TCGA-BP-4960-01A-01D-1462-08	63688214	86258079	84856988	31	20836											
LAMA4	3910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	112471821	112471821	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr6:112471821C>T	ENST00000230538.7	-	17	2462	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K	LAMA4_ENST00000522006.1_Missense_Mutation_p.E682K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E682K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E682K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	689	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.E682K(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCACTGCTTCATCACTGCCT	0.488																																																1	Substitution - Missense(1)	kidney(1)											125	110	115					6																	112471821		2203	4300	6503	SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2065G>A	6.37:g.112471821C>T	ENSP00000230538:p.Glu689Lys		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	6.721	0.501790	0.12822	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.13538	2.59;2.58;2.58;2.58	4.84	3.93	0.45458	.	0.508865	0.21575	N	0.072343	T	0.02380	0.0073	N	0.22421	0.69	0.09310	N	0.999996	B;B	0.23442	0.085;0.058	B;B	0.22601	0.026;0.04	T	0.43180	-0.9407	10	0.10111	T	0.7	.	7.282	0.26316	0.1924:0.6255:0.1821:0.0	.	689;682	Q16363;Q16363-2	LAMA4_HUMAN;.	K	689;682;682;682	ENSP00000230538:E689K;ENSP00000429488:E682K;ENSP00000374114:E682K;ENSP00000416470:E682K	ENSP00000230538:E689K	E	-	1	0	LAMA4	112578514	0.845000	0.29573	0.085000	0.20634	0.876000	0.50452	2.260000	0.43267	2.516000	0.84829	0.655000	0.94253	GAA		0.488	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		T	112471821	C	T	112471821	3	4	375	1	0	0	0	0	1	0	0	0	8610	835	29	2	3498	2	LAMA4	6	112471821	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08	26213742	112471821	58643246	32	20837											
PLG	5340	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	161139402	161139402	+	Silent	SNP	T	T	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr6:161139402T>A	ENST00000308192.9	+	8	927	c.864T>A	c.(862-864)gcT>gcA	p.A288A		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	288	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A288A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAATGTGGCTGTTACCGTGT	0.527																																																1	Substitution - coding silent(1)	kidney(1)											145	137	140					6																	161139402		2203	4300	6503	SO:0001819	synonymous_variant	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.864T>A	6.37:g.161139402T>A			Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																				0.527	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		A	161139402	T	A	161139402	2	1	375	1	0	0	0	0	0	0	0	1	12088	1567	55	5		5	PLG	6	161139402	Silent	SNP	T	TCGA-BP-4960-01A-01D-1462-08	48667581	161139402	9975665	33	20838											
COL1A2	1278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94059617	94059617	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr7:94059617G>A	ENST00000297268.6	+	52	4484	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1338	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.			R -> A (in Ref. 23; AAA51887). {ECO:0000305}.	blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.R1338H(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAGCCATCACGCCTGCCCTTC	0.383										HNSCC(75;0.22)																																						1	Substitution - Missense(1)	kidney(1)											225	213	217					7																	94059617		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.4013G>A	7.37:g.94059617G>A	ENSP00000297268:p.Arg1338His		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870641	0.72065	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.76060	-0.99	5.35	5.35	0.76521	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89268	0.3602	10	0.87932	D	0	.	19.9544	0.97215	0.0:0.0:1.0:0.0	.	190;1338	B4DTF5;P08123	.;CO1A2_HUMAN	H	1338;1339	ENSP00000297268:R1338H	ENSP00000297268:R1338H	R	+	2	0	COL1A2	93897553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	CGC		0.383	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94059617	G	A	94059617	3	1	375	1	0	0	0	0	1	0	0	0	3680	1087	38	1	4219	1	COL1A2	7	94059617	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08		94059617	65079046	34	20839											
STRA8	346673	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134928142	134928142	+	Silent	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr7:134928142C>T	ENST00000275764.3	+	4	399	c.399C>T	c.(397-399)agC>agT	p.S133S		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.S133S(1)|p.S133R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AATATGCCAGCATGTATTCTG	0.502																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											107	94	99					7																	134928142		2203	4300	6503	SO:0001819	synonymous_variant	346673			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"stimulated by retinoic acid gene 8 homolog (mouse)", "stimulated by retinoic acid 8 homolog (mouse)"			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.399C>T	7.37:g.134928142C>T				Silent	SNP	ENST00000275764.3	37	CCDS5839.1																																																																																				0.502	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		T	134928142	C	T	134928142	2	4	375	1	0	0	0	0	0	0	0	1	15328	709	25	2		2	STRA8	7	134928142	Silent	SNP	C	TCGA-BP-4960-01A-01D-1462-08	40868525	134928142	24210521	35	20840											
ZNF395	55893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28214212	28214212	+	Silent	SNP	A	A	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr8:28214212A>G	ENST00000344423.5	-	4	689	c.558T>C	c.(556-558)ccT>ccC	p.P186P	ZNF395_ENST00000523095.1_Silent_p.P186P|ZNF395_ENST00000523202.1_Silent_p.P186P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P186P(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CGGTCCCGGGAGGACTCTGTA	0.597																																																1	Substitution - coding silent(1)	kidney(1)											99	88	92					8																	28214212		2203	4300	6503	SO:0001819	synonymous_variant	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.558T>C	8.37:g.28214212A>G			B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	CCDS6067.1																																																																																				0.597	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			G	28214212	A	G	28214212	2	3	375	1	0	0	0	0	0	0	0	1	17886	291	11	3		3	ZNF395	8	28214212	Silent	SNP	A	TCGA-BP-4960-01A-01D-1462-08		28214212	118149810	36	20841											
MCM4	4173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	48874107	48874107	+	Silent	SNP	T	T	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr8:48874107T>A	ENST00000262105.2	+	2	311	c.102T>A	c.(100-102)tcT>tcA	p.S34S	MCM4_ENST00000523944.1_Silent_p.S34S|PRKDC_ENST00000338368.3_5'Flank|PRKDC_ENST00000523565.1_5'Flank|PRKDC_ENST00000314191.2_5'Flank	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	34					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.S34S(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CATCTCCCTCTCAGAGACGTA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											77	77	77					8																	48874107		2203	4300	6503	SO:0001819	synonymous_variant	4173				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.102T>A	8.37:g.48874107T>A			Q8NEH1|Q99658	Silent	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	T	3.180	-0.168174	0.06461	.	.	ENSG00000104738	ENST00000429229	.	.	.	5.55	-3.04	0.05412	.	.	.	.	.	T	0.39384	0.1076	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35475	-0.9787	5	0.28530	T	0.3	-0.4475	2.5281	0.04696	0.0997:0.2506:0.335:0.3146	.	.	.	.	H	7	.	ENSP00000400689:L7H	L	+	2	0	MCM4	49036660	0.000000	0.05858	0.026000	0.17262	0.090000	0.18270	-2.333000	0.01108	-0.159000	0.11021	-0.379000	0.06801	CTC		0.577	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		A	48874107	T	A	48874107	2	1	375	1	0	0	0	0	0	0	0	1	9391	1538	54	5		5	MCM4	8	48874107	Silent	SNP	T	TCGA-BP-4960-01A-01D-1462-08	20659895	48874107	97489915	37	20842											
ADHFE1	137872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67357547	67357547	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr8:67357547delA	ENST00000396623.3	+	6	479	c.448delA	c.(448-450)aatfs	p.N150fs	ADHFE1_ENST00000379385.4_Frame_Shift_Del_p.N150fs|ADHFE1_ENST00000415254.1_Frame_Shift_Del_p.N102fs|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	150					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TAAGGCTGCTAATCTGTATGC	0.493																																																0													239	204	216					8																	67357547		2203	4300	6503	SO:0001589	frameshift_variant	137872			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.448delA	8.37:g.67357547delA	ENSP00000379865:p.Asn150fs		B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Frame_Shift_Del	DEL	ENST00000396623.3	37	CCDS6190.2																																																																																				0.493	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		-	67357547	A	-	67357547	7	5	375	1	0	1	0	1	0	0	0	0	314	362	13	0	470	0	ADHFE1	8	67357547	Frame_Shift_Del	DEL	A	TCGA-BP-4960-01A-01D-1462-08	18483440	67357547	79006475	38	20843											
SLC1A1	6505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	4576614	4576614	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr9:4576614C>G	ENST00000262352.3	+	10	1280	c.1044C>G	c.(1042-1044)aaC>aaG	p.N348K		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	348					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.N348K(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	AAGAAAATAACCAGGTGGACA	0.468																																																1	Substitution - Missense(1)	kidney(1)											160	152	155					9																	4576614		2203	4300	6503	SO:0001583	missense	6505				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1044C>G	9.37:g.4576614C>G	ENSP00000262352:p.Asn348Lys		O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.77|15.77	2.932154|2.932154	0.52866|0.52866	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000262352|ENST00000422398	T|.	0.59224|.	0.28|.	5.54|5.54	0.529|0.529	0.17095|0.17095	.|.	0.084915|.	0.85682|.	D|.	0.000000|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.87900|0.87900	2.915|2.915	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.46912|.	0.886|.	P|.	0.55871|.	0.786|.	T|T	0.71869|0.71869	-0.4462|-0.4462	10|5	0.66056|.	D|.	0.02|.	-8.7842|-8.7842	9.2925|9.2925	0.37795|0.37795	0.0:0.5859:0.0:0.4141|0.0:0.5859:0.0:0.4141	.|.	348|.	P43005|.	EAA3_HUMAN|.	K|A	348|111	ENSP00000262352:N348K|.	ENSP00000262352:N348K|.	N|P	+|+	3|1	2|0	SLC1A1|SLC1A1	4566614|4566614	0.038000|0.038000	0.19896|0.19896	0.231000|0.231000	0.23993|0.23993	0.761000|0.761000	0.43186|0.43186	0.496000|0.496000	0.22499|0.22499	-0.168000|-0.168000	0.10853|0.10853	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.468	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			G	4576614	C	G	4576614	3	3	375	1	0	0	0	0	1	0	0	0	14437	506	18	4	1082	4	SLC1A1	9	4576614	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08		4576614	136636817	39	20844											
TRPM3	80036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	73477850	73477850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr9:73477850C>A	ENST00000377111.2	-	3	679	c.436G>T	c.(436-438)Gga>Tga	p.G146*	TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000423814.3_Nonsense_Mutation_p.G148*|TRPM3_ENST00000396283.1_De_novo_Start_OutOfFrame|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000377105.1_De_novo_Start_OutOfFrame|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000377101.1_De_novo_Start_OutOfFrame|TRPM3_ENST00000361823.5_De_novo_Start_OutOfFrame|TRPM3_ENST00000377106.1_De_novo_Start_OutOfFrame|TRPM3_ENST00000377110.3_Nonsense_Mutation_p.G146*|TRPM3_ENST00000360823.2_De_novo_Start_OutOfFrame|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000357533.2_Nonsense_Mutation_p.G148*|TRPM3_ENST00000377097.3_De_novo_Start_OutOfFrame	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	146					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.G146*(1)|p.G148*(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGCCACCTCCTTGGAACTCA	0.488																																																2	Substitution - Nonsense(2)	kidney(2)											207	195	199					9																	73477850		2203	4300	6503	SO:0001587	stop_gained	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.436G>T	9.37:g.73477850C>A	ENSP00000366315:p.Gly146*		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Nonsense_Mutation	SNP	ENST00000377111.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.837319|5.837319	0.97009|0.97009	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000357533;ENST00000423814|ENST00000377097	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77082	.|0.4078	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73953	.|-0.3820	.|4	0.87932|.	D|.	0|.	-14.1673|-14.1673	20.3854|20.3854	0.98941|0.98941	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	146;146;148;148|35	.|.	ENSP00000350140:G148X|.	G|K	-|-	1|3	0|2	TRPM3|TRPM3	72667670|72667670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.488	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		A	73477850	C	A	73477850	4	1	375	1	0	0	0	0	0	1	0	0	16592	690	24	4	4902	4	TRPM3	9	73477850	Nonsense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08	68901236	73477850	67735581	40	20845											
GCNT1	2650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79118325	79118325	+	Missense_Mutation	SNP	A	A	G	rs373409583		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr9:79118325A>G	ENST00000376730.4	+	4	1511	c.1028A>G	c.(1027-1029)gAt>gGt	p.D343G	GCNT1_ENST00000442371.1_Missense_Mutation_p.D343G|GCNT1_ENST00000536223.1_Missense_Mutation_p.D343G|GCNT1_ENST00000444201.2_Missense_Mutation_p.D343G	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	343	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.D343G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CATAAGTATGATCTGTCTGAC	0.542																																																1	Substitution - Missense(1)	kidney(1)						A	GLY/ASP,GLY/ASP,GLY/ASP,GLY/ASP,GLY/ASP	0,4406		0,0,2203	83	77	79		1028,1028,1028,1028,1028	6.2	1	9		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	GCNT1	NM_001097633.1,NM_001097634.1,NM_001097635.1,NM_001097636.1,NM_001490.4	94,94,94,94,94	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	343/429,343/429,343/429,343/429,343/429	79118325	1,13005	2203	4300	6503	SO:0001583	missense	2650			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.1028A>G	9.37:g.79118325A>G	ENSP00000365920:p.Asp343Gly		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	a	19.49	3.836647	0.71373	0.0	1.16E-4	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	M	0.83603	2.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.14727	-1.0462	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	343	Q02742	GCNT1_HUMAN	G	343	ENSP00000440883:D343G;ENSP00000415454:D343G;ENSP00000390703:D343G;ENSP00000365920:D343G	.	D	+	2	0	GCNT1	78308145	1.000000	0.71417	0.982000	0.44146	0.499000	0.33736	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAT		0.542	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		G	79118325	A	G	79118325	3	3	375	1	0	0	0	0	1	0	0	0	6302	333	12	3	1030	3	GCNT1	9	79118325	Missense_Mutation	SNP	A	TCGA-BP-4960-01A-01D-1462-08	5640475	79118325	62095106	41	20846											
ATAD1	84896	broad.mit.edu;hgsc.bcm.edu	37	10	89550085	89550085	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr10:89550085G>T	ENST00000308448.7	-	4	742	c.364C>A	c.(364-366)Ctt>Att	p.L122I	ATAD1_ENST00000400215.3_Missense_Mutation_p.L64I|ATAD1_ENST00000328142.3_Missense_Mutation_p.L122I|ATAD1_ENST00000541004.1_Missense_Mutation_p.L122I|ATAD1_ENST00000495903.1_5'UTR	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	122					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L122I(1)		kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GGCTGCAGAAGCCTGGAATTC	0.353																																																1	Substitution - Missense(1)	kidney(1)											103	98	100					10																	89550085		2202	4300	6502	SO:0001583	missense	84896			AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"ATPases / AAA-type"	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.364C>A	10.37:g.89550085G>T	ENSP00000339017:p.Leu122Ile		D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	ENST00000308448.7	37	CCDS7386.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757855	0.89843	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215;ENST00000541004	D;D;D;D	0.96685	-3.62;-3.62;-4.09;-3.88	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96789	0.9581	9	.	.	.	-18.3125	19.5396	0.95268	0.0:0.0:1.0:0.0	.	64;122	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	I	122;122;64;122	ENSP00000339017:L122I;ENSP00000339016:L122I;ENSP00000412968:L64I;ENSP00000445500:L122I	.	L	-	1	0	ATAD1	89540065	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.609000	0.82925	2.690000	0.91761	0.563000	0.77884	CTT		0.353	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810		T	89550085	G	T	89550085	3	4	375	1	0	0	0	0	1	0	0	0	1070	971	34	4	749	4	ATAD1	10	89550085	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08		89550085	45984662	42	20847											
KIF20B	9585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	91528517	91528517	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr10:91528517A>C	ENST00000371728.3	+	31	5179	c.5114A>C	c.(5113-5115)aAg>aCg	p.K1705T	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.K1735T|KIF20B_ENST00000260753.4_Missense_Mutation_p.K1665T	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1705	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.K1665T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CCATCATCTAAGAAAACATAT	0.348																																																1	Substitution - Missense(1)	kidney(1)											91	88	89					10																	91528517		2203	4300	6503	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5114A>C	10.37:g.91528517A>C	ENSP00000360793:p.Lys1705Thr		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	A	16.36	3.102009	0.56183	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.39997	1.05;1.05;1.05	5.7	3.28	0.37604	.	0.000000	0.53938	D	0.000046	T	0.47414	0.1444	L	0.60455	1.87	0.80722	D	1	D;D	0.58970	0.964;0.984	P;P	0.55161	0.522;0.77	T	0.37979	-0.9682	10	0.38643	T	0.18	-9.3784	6.9674	0.24631	0.7728:0.1481:0.0791:0.0	.	1705;1665	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	T	1665;1735;1705	ENSP00000260753:K1665T;ENSP00000411545:K1735T;ENSP00000360793:K1705T	ENSP00000260753:K1665T	K	+	2	0	KIF20B	91518497	1.000000	0.71417	0.981000	0.43875	0.733000	0.41908	1.840000	0.39230	0.940000	0.37473	0.454000	0.30748	AAG		0.348	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		C	91528517	A	C	91528517	3	2	375	1	0	0	0	0	1	0	0	0	8289	72	3	5	5112	5	KIF20B	10	91528517	Missense_Mutation	SNP	A	TCGA-BP-4960-01A-01D-1462-08	1978432	91528517	44006230	43	20848											
NLRP6	171389	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	281411	281411	+	Silent	SNP	C	C	T	rs199706714		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr11:281411C>T	ENST00000312165.5	+	4	1677	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	NLRP6_ENST00000534750.1_Silent_p.I559I	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	559					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)	p.I559I(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGCGCGACATCGAGCGCCACT	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		19626	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											17	19	18					11																	281411		2201	4298	6499	SO:0001819	synonymous_variant	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1677C>T	11.37:g.281411C>T			A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	CCDS7693.1																																																																																				0.677	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		T	281411	C	T	281411	2	4	375	1	0	0	0	0	0	0	0	1	10483	874	31	1		1	NLRP6	11	281411	Silent	SNP	C	TCGA-BP-4960-01A-01D-1462-08		281411	134725105	44	20849											
TNKS1BP1	85456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57068043	57068043	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr11:57068043C>A	ENST00000532437.1	-	10	5472	c.5161G>T	c.(5161-5163)Gcc>Tcc	p.A1721S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1721S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1721	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.A1721S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGTTTCAGGGCTTGAAGCCAG	0.537																																																1	Substitution - Missense(1)	kidney(1)											183	157	166					11																	57068043		2201	4296	6497	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.5161G>T	11.37:g.57068043C>A	ENSP00000437271:p.Ala1721Ser		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600812	0.87055	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33865	1.39;1.39	5.06	5.06	0.68205	.	0.083062	0.48286	D	0.000190	T	0.56761	0.2007	M	0.64997	1.995	0.31268	N	0.692141	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.921	T	0.63739	-0.6569	10	0.87932	D	0	-17.0664	15.337	0.74266	0.0:1.0:0.0:0.0	.	1721;303	Q9C0C2;Q86TK2	TB182_HUMAN;.	S	1721	ENSP00000350990:A1721S;ENSP00000437271:A1721S	ENSP00000350990:A1721S	A	-	1	0	TNKS1BP1	56824619	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.442000	0.59988	2.359000	0.80004	0.561000	0.74099	GCC		0.537	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		A	57068043	C	A	57068043	3	1	375	1	0	0	0	0	1	0	0	0	16325	797	28	4	32	4	TNKS1BP1	11	57068043	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08	56786632	57068043	77938473	45	20850											
CTNND1	1500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57563067	57563067	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr11:57563067T>G	ENST00000399050.4	+	5	822	c.286T>G	c.(286-288)Tat>Gat	p.Y96D	CTNND1_ENST00000534579.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000426142.2_De_novo_Start_OutOfFrame|CTNND1_ENST00000358694.6_Missense_Mutation_p.Y96D|CTNND1_ENST00000528621.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000530094.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000528232.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000532787.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000532844.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000526357.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.Y96D|CTNND1_ENST00000532649.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000532245.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000530748.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000532463.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000428599.2_Missense_Mutation_p.Y96D|CTNND1_ENST00000529526.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000529986.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000526938.1_Missense_Mutation_p.Y96D|CTNND1_ENST00000529873.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000399039.4_Missense_Mutation_p.Y96D|CTNND1_ENST00000361391.6_Missense_Mutation_p.Y96D|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000415361.2_De_novo_Start_OutOfFrame|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000361332.4_Missense_Mutation_p.Y96D|CTNND1_ENST00000361796.4_Missense_Mutation_p.Y96D|CTNND1_ENST00000529919.1_Missense_Mutation_p.Y96D|CTNND1_ENST00000524630.1_Missense_Mutation_p.Y96D	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	96					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.Y96D(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCACCTTCTATATAGCACCAT	0.463																																																2	Substitution - Missense(2)	kidney(2)											46	50	49					11																	57563067		1921	4118	6039	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.286T>G	11.37:g.57563067T>G	ENSP00000382004:p.Tyr96Asp		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091895	0.36952	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000358694;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000534579;ENST00000526938;ENST00000530068;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71817	1.68;1.68;1.68;1.68;1.68;-0.23;1.68;1.68;1.68;1.68;-0.23;-0.23;-0.24;1.68;-0.6;-0.25;-0.25;-0.23;1.68;1.68;2.2	5.8	5.8	0.92144	.	0.317275	0.31821	N	0.007008	T	0.59224	0.2178	N	0.22421	0.69	0.47476	D	0.999436	P;P;P;P;B;P;P	0.50528	0.936;0.936;0.895;0.833;0.218;0.936;0.895	P;P;B;P;B;P;B	0.47864	0.559;0.559;0.356;0.559;0.117;0.559;0.356	T	0.56111	-0.8033	10	0.13470	T	0.59	-8.4024	10.2115	0.43143	0.0:0.0746:0.0:0.9254	.	96;96;96;42;96;96;96	O60716-3;O60716-2;O60716;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.	D	96;96;96;96;96;42;96;96;96;96;42;42;42;96;42;42;42;42;96;42;18	ENSP00000436543:Y96D;ENSP00000434808:Y96D;ENSP00000381996:Y96D;ENSP00000353902:Y96D;ENSP00000354907:Y96D;ENSP00000436323:Y42D;ENSP00000382004:Y96D;ENSP00000354785:Y96D;ENSP00000354823:Y96D;ENSP00000351527:Y96D;ENSP00000435379:Y42D;ENSP00000432243:Y42D;ENSP00000436744:Y42D;ENSP00000413586:Y96D;ENSP00000435494:Y42D;ENSP00000433276:Y42D;ENSP00000433334:Y42D;ENSP00000435789:Y42D;ENSP00000432041:Y96D;ENSP00000431600:Y42D;ENSP00000434202:Y18D	ENSP00000351527:Y96D	Y	+	1	0	CTNND1	57319643	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	3.915000	0.56409	2.220000	0.72140	0.383000	0.25322	TAT		0.463	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		G	57563067	T	G	57563067	3	3	375	1	0	0	0	0	1	0	0	0	4021	1406	49	5	296	5	CTNND1	11	57563067	Missense_Mutation	SNP	T	TCGA-BP-4960-01A-01D-1462-08	495024	57563067	77443449	46	20851											
NRXN2	9379	hgsc.bcm.edu;ucsc.edu	37	11	64428577	64428577	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr11:64428577G>C	ENST00000377551.1	-	9	2044	c.1833C>G	c.(1831-1833)ttC>ttG	p.F611L	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.F580L|NRXN2_ENST00000265459.6_Missense_Mutation_p.F611L|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000409571.1_Missense_Mutation_p.F604L			Q9P2S2	NRX2A_HUMAN	neurexin 2	611	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CAGTGGCCAAGAACGGCGTGC	0.622																																																0													29	33	31					11																	64428577		2201	4295	6496	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1833C>G	11.37:g.64428577G>C	ENSP00000366774:p.Phe611Leu		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136882	0.56936	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.8	3.81	0.43845	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.46145	U	0.000314	T	0.81346	0.4803	L	0.45352	1.415	0.58432	D	0.999992	P;B;D	0.61080	0.926;0.146;0.989	P;B;D	0.70227	0.729;0.026;0.968	T	0.81942	-0.0702	10	0.87932	D	0	.	9.8259	0.40912	0.1094:0.0:0.8906:0.0	.	580;611;357	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	L	611;580;611;580;604	ENSP00000366774:F611L;ENSP00000366782:F580L;ENSP00000265459:F611L;ENSP00000386416:F604L	ENSP00000265459:F611L	F	-	3	2	NRXN2	64185153	1.000000	0.71417	0.989000	0.46669	0.112000	0.19704	4.524000	0.60552	2.496000	0.84212	0.555000	0.69702	TTC		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		C	64428577	G	C	64428577	3	2	375	1	0	0	0	0	1	0	0	0	10668	933	33	4	3630	4	NRXN2	11	64428577	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	6865510	64428577	70577939	47	20852											
HTR3A	3359	hgsc.bcm.edu;ucsc.edu	37	11	113857420	113857420	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr11:113857420C>T	ENST00000504030.2	+	7	1331	c.886C>T	c.(886-888)Ccg>Tcg	p.P296S	HTR3A_ENST00000375498.2_Missense_Mutation_p.P302S|HTR3A_ENST00000535865.1_Missense_Mutation_p.P40S|HTR3A_ENST00000355556.2_Missense_Mutation_p.P302S|HTR3A_ENST00000506841.2_Missense_Mutation_p.P296S|HTR3A_ENST00000299961.5_Missense_Mutation_p.P281S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	296					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.P296S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TGACACGCTGCCGGCCACTGC	0.602																																																1	Substitution - Missense(1)	kidney(1)											99	82	87					11																	113857420		2201	4296	6497	SO:0001583	missense	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.886C>T	11.37:g.113857420C>T	ENSP00000424189:p.Pro296Ser		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37		.	.	.	.	.	.	.	.	.	.	C	27.8	4.862840	0.91511	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.99498	0.9821	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98406	1.0570	10	0.87932	D	0	-28.3952	18.4412	0.90667	0.0:1.0:0.0:0.0	.	281;302;302	B4DSY6;G5E986;Q7KZM7	.;.;.	S	296;302;302;296;40;281	ENSP00000424189:P296S;ENSP00000347754:P302S;ENSP00000364648:P302S;ENSP00000424776:P296S;ENSP00000437776:P40S;ENSP00000299961:P281S	ENSP00000299961:P281S	P	+	1	0	HTR3A	113362630	1.000000	0.71417	0.996000	0.52242	0.907000	0.53573	7.776000	0.85560	2.421000	0.82119	0.561000	0.74099	CCG		0.602	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		T	113857420	C	T	113857420	3	4	375	1	0	0	0	0	1	0	0	0	7446	739	26	2	956	2	HTR3A	11	113857420	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08	49428843	113857420	21149096	48	20853											
ATP8A2	51761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26104186	26104186	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr13:26104186C>G	ENST00000381655.2	+	3	413	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.Q51E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	51					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Q91E(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTTGTATGAGCAGATTAGAAG	0.338																																																1	Substitution - Missense(1)	kidney(1)											194	180	184					13																	26104186		1868	4102	5970	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.271C>G	13.37:g.26104186C>G	ENSP00000371070:p.Gln91Glu		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448700	0.84101	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000381648	D;D	0.84516	-1.86;-1.86	4.9	4.9	0.64082	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.282341	0.37715	N	0.001967	D	0.92319	0.7563	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.92327	0.5870	10	0.49607	T	0.09	.	18.2687	0.90060	0.0:1.0:0.0:0.0	.	51;51;51	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	E	91;51;51	ENSP00000371070:Q91E;ENSP00000255283:Q51E	ENSP00000255283:Q51E	Q	+	1	0	ATP8A2	25002186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.532000	0.85374	0.643000	0.83706	CAG		0.338	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		G	26104186	C	G	26104186	3	3	375	1	0	0	0	0	1	0	0	0	1193	711	25	4	281	4	ATP8A2	13	26104186	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08		26104186	89065692	49	20854											
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24885951	24885951	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr14:24885951C>A	ENST00000382554.3	+	9	5314	c.4996C>A	c.(4996-4998)Cat>Aat	p.H1666N		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1666	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.H1666N(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCTGCTTCAGCATGTGTTTGC	0.617																																																1	Substitution - Missense(1)	kidney(1)											36	41	39					14																	24885951		2040	4170	6210	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4996C>A	14.37:g.24885951C>A	ENSP00000371994:p.His1666Asn		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363383	0.41902	.	.	ENSG00000205978	ENST00000382554	T	0.09445	2.98	5.26	5.26	0.73747	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.09069	0.0224	N	0.25144	0.715	0.31878	N	0.618844	B	0.26081	0.141	B	0.23574	0.047	T	0.09292	-1.0681	9	0.21014	T	0.42	.	16.4044	0.83654	0.0:1.0:0.0:0.0	.	1666	Q9P2P1	NYNRI_HUMAN	N	1666	ENSP00000371994:H1666N	ENSP00000371994:H1666N	H	+	1	0	NYNRIN	23955791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.649000	0.46656	2.735000	0.93741	0.561000	0.74099	CAT		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			A	24885951	C	A	24885951	3	1	375	1	0	0	0	0	1	0	0	0	10798	710	25	4	5026	4	NYNRIN	14	24885951	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08		24885951	82463589	50	20855											
KHNYN	23351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24901665	24901665	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr14:24901665T>A	ENST00000251343.5	+	3	1337	c.1198T>A	c.(1198-1200)Tgg>Agg	p.W400R	KHNYN_ENST00000556842.1_Missense_Mutation_p.W400R|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.W400R|CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	400							RNA binding (GO:0003723)	p.W400R(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGGGCCTCAATGGAAACGAGG	0.657											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											18	20	19					14																	24901665		2195	4287	6482	SO:0001583	missense	23351			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1198T>A	14.37:g.24901665T>A	ENSP00000251343:p.Trp400Arg	774	Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	T	0.593	-0.832200	0.02713	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.22134	1.97;1.97;1.97	4.61	-1.28	0.09318	.	0.621206	0.16453	N	0.213747	T	0.09202	0.0227	L	0.27053	0.805	0.09310	N	0.999999	P;B	0.38335	0.627;0.007	B;B	0.28553	0.091;0.002	T	0.37314	-0.9711	10	0.15952	T	0.53	.	8.3816	0.32474	0.1406:0.0:0.5752:0.2842	.	441;400	D3DS77;O15037	.;KHNYN_HUMAN	R	400	ENSP00000251343:W400R;ENSP00000451106:W400R;ENSP00000450799:W400R	ENSP00000251343:W400R	W	+	1	0	KHNYN	23971505	0.123000	0.22298	0.138000	0.22173	0.316000	0.28119	0.070000	0.14573	0.015000	0.14971	0.379000	0.24179	TGG		0.657	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			A	24901665	T	A	24901665	3	1	375	1	0	0	0	0	1	0	0	0	8152	1464	51	5	1204	5	KHNYN	14	24901665	Missense_Mutation	SNP	T	TCGA-BP-4960-01A-01D-1462-08	15714	24901665	82447875	51	20856											
ACTN1	87	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	69349271	69349271	+	Silent	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr14:69349271C>G	ENST00000193403.6	-	16	2240	c.1857G>C	c.(1855-1857)acG>acC	p.T619T	ACTN1_ENST00000538545.2_Silent_p.T619T|ACTN1_ENST00000394419.4_Silent_p.T619T|ACTN1_ENST00000376839.3_Silent_p.T554T|ACTN1_ENST00000438964.2_Silent_p.T619T	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	619	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.T619T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CATGCTCCTCCGTCAGAGCTT	0.607																																																1	Substitution - coding silent(1)	kidney(1)											81	56	65					14																	69349271		2203	4300	6503	SO:0001819	synonymous_variant	87			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1857G>C	14.37:g.69349271C>G			B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	CCDS9792.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.771|8.771	0.925913|0.925913	0.18056|0.18056	.|.	.|.	ENSG00000072110|ENSG00000072110	ENST00000553290|ENST00000555075	.|.	.|.	.|.	5.5|5.5	-8.2|-8.2	0.01045|0.01045	.|.	.|.	.|.	.|.	.|.	T|T	0.57431|0.57431	0.2053|0.2053	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64028|0.64028	-0.6503|-0.6503	4|4	.|.	.|.	.|.	.|.	12.3884|12.3884	0.55345|0.55345	0.0:0.2294:0.0946:0.676|0.0:0.2294:0.0946:0.676	.|.	.|.	.|.	.|.	R|P	59|5	.|.	.|.	G|R	-|-	1|2	0|0	ACTN1|ACTN1	68419024|68419024	0.000000|0.000000	0.05858|0.05858	0.096000|0.096000	0.21009|0.21009	0.938000|0.938000	0.57974|0.57974	-2.253000|-2.253000	0.01184|0.01184	-2.315000|-2.315000	0.00646|0.00646	-0.786000|-0.786000	0.03341|0.03341	GGA|CGG		0.607	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		G	69349271	C	G	69349271	2	3	375	1	0	0	0	0	0	0	0	1	204	639	23	4		4	ACTN1	14	69349271	Silent	SNP	C	TCGA-BP-4960-01A-01D-1462-08	44447606	69349271	38000269	52	20857											
BTBD7	55727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	93709191	93709191	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr14:93709191G>C	ENST00000334746.5	-	11	3134	c.2827C>G	c.(2827-2829)Ccg>Gcg	p.P943A	BTBD7_ENST00000554565.1_Missense_Mutation_p.P592A|BTBD7_ENST00000393170.2_Missense_Mutation_p.P517A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	943					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.P943A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TAGAAATCCGGATATTCCTGT	0.473																																																1	Substitution - Missense(1)	kidney(1)											192	181	185					14																	93709191		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2827C>G	14.37:g.93709191G>C	ENSP00000335615:p.Pro943Ala		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318868	0.81469	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.51325	1.05;0.71	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.56123	-0.8031	10	0.40728	T	0.16	.	20.27	0.98469	0.0:0.0:1.0:0.0	.	517;592;943	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	A	943;592;558;517	ENSP00000335615:P943A;ENSP00000451010:P592A	ENSP00000335615:P943A	P	-	1	0	BTBD7	92778944	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	8.843000	0.92142	2.804000	0.96469	0.655000	0.94253	CCG		0.473	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		C	93709191	G	C	93709191	3	2	375	1	0	0	0	0	1	0	0	0	1548	1174	41	4	575	4	BTBD7	14	93709191	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	24359920	93709191	13640349	53	20858											
TLN2	83660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63125718	63125718	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr15:63125718C>A	ENST00000561311.1	+	54	7248	c.7018C>A	c.(7018-7020)Ctg>Atg	p.L2340M	TLN2_ENST00000306829.6_Missense_Mutation_p.L2340M|RP11-1069G10.1_ENST00000558888.1_RNA|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2340	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L2340M(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGATGAGACCCTGGACTTTGA	0.507																																																1	Substitution - Missense(1)	kidney(1)											161	163	163					15																	63125718		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7018C>A	15.37:g.63125718C>A	ENSP00000453508:p.Leu2340Met		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345492	0.61073	.	.	ENSG00000171914	ENST00000306829	T	0.33216	1.42	5.84	1.93	0.25924	I/LWEQ (3);	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	L	0.57130	1.785	0.43678	D	0.996114	D	0.76494	0.999	D	0.91635	0.999	T	0.26815	-1.0092	10	0.42905	T	0.14	-13.5301	10.1023	0.42513	0.0:0.7377:0.0:0.2623	.	2340	Q9Y4G6	TLN2_HUMAN	M	2340	ENSP00000303476:L2340M	ENSP00000303476:L2340M	L	+	1	2	TLN2	60912771	0.961000	0.32948	1.000000	0.80357	0.996000	0.88848	2.120000	0.41968	0.399000	0.25367	0.561000	0.74099	CTG		0.507	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			A	63125718	C	A	63125718	3	1	375	1	0	0	0	0	1	0	0	0	15953	680	24	4	7224	4	TLN2	15	63125718	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08		63125718	39405674	54	20859											
ITGA11	22801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68596122	68596122	+	Silent	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr15:68596122C>T	ENST00000315757.7	-	29	3569	c.3483G>A	c.(3481-3483)ctG>ctA	p.L1161L	ITGA11_ENST00000423218.2_Silent_p.L1162L|RP11-709B3.2_ENST00000569808.1_lincRNA	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1161	Poly-Leu.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.L1161L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TCCACAGTGCCAGGACCAGCA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											37	43	41					15																	68596122		1919	4132	6051	SO:0001819	synonymous_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.3483G>A	15.37:g.68596122C>T			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																				0.652	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		T	68596122	C	T	68596122	2	4	375	1	0	0	0	0	0	0	0	1	7876	581	21	2		2	ITGA11	15	68596122	Silent	SNP	C	TCGA-BP-4960-01A-01D-1462-08	5470404	68596122	33935270	55	20860											
FHOD1	29109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67264329	67264329	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr16:67264329A>G	ENST00000258201.4	-	19	3186	c.2939T>C	c.(2938-2940)cTg>cCg	p.L980P		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	980	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.L980P(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AAATTCCCGCAGCGTGTGGCA	0.617																																																1	Substitution - Missense(1)	kidney(1)											99	92	94					16																	67264329		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2939T>C	16.37:g.67264329A>G	ENSP00000258201:p.Leu980Pro		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.624920	0.66901	.	.	ENSG00000135723	ENST00000258201	T	0.25912	1.77	5.76	5.76	0.90799	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.063695	0.64402	D	0.000011	T	0.44746	0.1308	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	T	0.38457	-0.9660	10	0.87932	D	0	.	13.4431	0.61125	1.0:0.0:0.0:0.0	.	980	Q9Y613	FHOD1_HUMAN	P	980	ENSP00000258201:L980P	ENSP00000258201:L980P	L	-	2	0	FHOD1	65821830	1.000000	0.71417	0.967000	0.41034	0.601000	0.36947	9.090000	0.94144	2.200000	0.70718	0.459000	0.35465	CTG		0.617	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			G	67264329	A	G	67264329	3	3	375	1	0	0	0	0	1	0	0	0	5884	188	7	3	571	3	FHOD1	16	67264329	Missense_Mutation	SNP	A	TCGA-BP-4960-01A-01D-1462-08		67264329	23090424	56	20861											
TMEM231	79583	broad.mit.edu	37	16	75590097	75590097	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr16:75590097T>G	ENST00000258173.6	-	1	87	c.11A>C	c.(10-12)tAt>tCt	p.Y4S	RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000569294.1_5'Flank|TMEM231_ENST00000565067.1_Missense_Mutation_p.Y4S|TMEM231_ENST00000568377.1_Start_Codon_SNP_p.M1L	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	4					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.Y4S(1)|p.M1L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GAAGAGCTCATAGAGCGCCAT	0.672																																																2	Substitution - Missense(2)	kidney(2)											5	6	5					16																	75590097		1779	3853	5632	SO:0001583	missense	79583				CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.11A>C	16.37:g.75590097T>G	ENSP00000258173:p.Tyr4Ser		A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Missense_Mutation	SNP	ENST00000258173.6	37	CCDS45530.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.14|19.14	3.769764|3.769764	0.69992|0.69992	.|.	.|.	ENSG00000205084|ENSG00000205084	ENST00000398114|ENST00000258173	T|T	0.76186|0.68181	-1.0|-0.31	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|.	.|.	.|.	.|.	T|T	0.58061|0.58061	0.2096|0.2096	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|P	0.09022|0.36354	0.002|0.549	B|B	0.13407|0.34038	0.009|0.174	T|T	0.59402|0.59402	-0.7461|-0.7461	8|8	0.87932|0.38643	D|T	0|0.18	-22.6529|-22.6529	13.9817|13.9817	0.64308|0.64308	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1|4	G5E9E3|Q9H6L2	.|TM231_HUMAN	L|S	1|4	ENSP00000381184:M1L|ENSP00000258173:Y4S	ENSP00000381184:M1L|ENSP00000258173:Y4S	M|Y	-|-	1|2	0|0	TMEM231|TMEM231	74147598|74147598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.672000|0.672000	0.39443|0.39443	5.793000|5.793000	0.69060|0.69060	2.244000|2.244000	0.73946|0.73946	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.672	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435481.2	NM_001077416		G	75590097	T	G	75590097	3	3	375	1	0	0	0	0	1	0	0	0	16154	1406	49	5	1060	5	TMEM231	16	75590097	Missense_Mutation	SNP	T	TCGA-BP-4960-01A-01D-1462-08	8325768	75590097	14764656	57	20862											
ZNF594	84622	broad.mit.edu;hgsc.bcm.edu	37	17	5086351	5086351	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr17:5086351C>T	ENST00000399604.4	-	1	1341	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	ZNF594_ENST00000575779.1_Missense_Mutation_p.E401K			Q96JF6	ZN594_HUMAN	zinc finger protein 594	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E401K(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TATGGTTTCTCTCCTGTATGA	0.413																																																1	Substitution - Missense(1)	kidney(1)											163	166	165					17																	5086351		2062	4219	6281	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1201G>A	17.37:g.5086351C>T	ENSP00000382513:p.Glu401Lys		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457163	0.43634	.	.	ENSG00000180626	ENST00000399604	T	0.24350	1.86	0.641	0.641	0.17759	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22589	0.0545	L	0.51853	1.615	0.21604	N	0.999628	P	0.34757	0.467	B	0.39027	0.288	T	0.29792	-1.0000	9	0.66056	D	0.02	.	2.9353	0.05812	0.0:0.6538:0.0:0.3462	.	401	Q96JF6	ZN594_HUMAN	K	401	ENSP00000382513:E401K	ENSP00000382513:E401K	E	-	1	0	ZNF594	5027075	0.406000	0.25344	0.003000	0.11579	0.011000	0.07611	1.677000	0.37576	0.604000	0.29930	0.467000	0.42956	GAG		0.413	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		T	5086351	C	T	5086351	3	4	375	1	0	0	0	0	1	0	0	0	18029	922	32	2	1226	2	ZNF594	17	5086351	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08		5086351	76108859	58	20863											
RCVRN	5957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	9808162	9808162	+	Silent	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr17:9808162G>A	ENST00000226193.5	-	1	776	c.336C>T	c.(334-336)gaC>gaT	p.D112D		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	112	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.D112D(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						TCCCGTTACCGTCCACGTCGT	0.627																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											167	132	144					17																	9808162		2203	4300	6503	SO:0001819	synonymous_variant	5957			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.336C>T	17.37:g.9808162G>A			Q53XL0	Silent	SNP	ENST00000226193.5	37	CCDS11151.1																																																																																				0.627	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		A	9808162	G	A	9808162	2	1	375	1	0	0	0	0	0	0	0	1	13192	1136	40	1		1	RCVRN	17	9808162	Silent	SNP	G	TCGA-BP-4960-01A-01D-1462-08	4721811	9808162	71387048	59	20864											
NOS2	4843	broad.mit.edu;hgsc.bcm.edu	37	17	26086097	26086097	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr17:26086097T>C	ENST00000313735.6	-	26	3397	c.3164A>G	c.(3163-3165)tAt>tGt	p.Y1055C		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1055					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.Y1055C(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GTCCTGAACATAGACCTGAAA	0.627																																																1	Substitution - Missense(1)	kidney(1)											18	17	17					17																	26086097		2198	4300	6498	SO:0001583	missense	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.3164A>G	17.37:g.26086097T>C	ENSP00000327251:p.Tyr1055Cys		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743393	0.69418	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	D	0.82081	-1.57	4.34	4.34	0.51931	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.167110	0.40385	N	0.001106	D	0.94656	0.8277	H	0.99238	4.48	0.54753	D	0.999981	D	0.89917	1.0	D	0.77004	0.989	D	0.96248	0.9181	10	0.87932	D	0	.	13.0116	0.58733	0.0:0.0:0.0:1.0	.	1055	P35228	NOS2_HUMAN	C	1055;1016	ENSP00000327251:Y1055C	ENSP00000327251:Y1055C	Y	-	2	0	NOS2	23110224	1.000000	0.71417	0.967000	0.41034	0.925000	0.55904	7.818000	0.86416	1.741000	0.51731	0.379000	0.24179	TAT		0.627	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		C	26086097	T	C	26086097	3	2	375	1	0	0	0	0	1	0	0	0	10545	1406	49	3	305	3	NOS2	17	26086097	Missense_Mutation	SNP	T	TCGA-BP-4960-01A-01D-1462-08	16277935	26086097	55109113	60	20865											
NOL11	25926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65730487	65730487	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr17:65730487T>A	ENST00000253247.4	+	8	977	c.862T>A	c.(862-864)Tct>Act	p.S288T	NOL11_ENST00000535137.1_Missense_Mutation_p.S106T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	288					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.S288T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAATGCCTCTCTGTATGGAA	0.328																																																1	Substitution - Missense(1)	kidney(1)											44	46	46					17																	65730487		2203	4299	6502	SO:0001583	missense	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.862T>A	17.37:g.65730487T>A	ENSP00000253247:p.Ser288Thr		B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.317141	0.23908	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.54675	0.56	5.28	2.95	0.34219	.	0.283463	0.41194	D	0.000937	T	0.42131	0.1189	L	0.54323	1.7	0.25448	N	0.988036	B	0.21905	0.062	B	0.21917	0.037	T	0.32052	-0.9921	10	0.08381	T	0.77	-2.7184	10.0981	0.42488	0.0:0.0:0.3255:0.6745	.	288	Q9H8H0	NOL11_HUMAN	T	288;106	ENSP00000253247:S288T	ENSP00000253247:S288T	S	+	1	0	NOL11	63160949	0.996000	0.38824	0.897000	0.35233	0.654000	0.38779	2.746000	0.47467	0.273000	0.22049	0.460000	0.39030	TCT		0.328	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		A	65730487	T	A	65730487	3	1	375	1	0	0	0	0	1	0	0	0	10523	1551	54	5	892	5	NOL11	17	65730487	Missense_Mutation	SNP	T	TCGA-BP-4960-01A-01D-1462-08	39644390	65730487	15464723	61	20866											
TRIM65	201292	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73888859	73888859	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr17:73888859G>A	ENST00000269383.3	-	2	552	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	163						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R163C(1)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTTGCTTGCGCAGCTCTAGT	0.667																																																1	Substitution - Missense(1)	kidney(1)											51	45	47					17																	73888859		2203	4300	6503	SO:0001583	missense	201292			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	27316	protein-coding gene	gene with protein product			"tripartite motif-containing 65"			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.487C>T	17.37:g.73888859G>A	ENSP00000269383:p.Arg163Cys		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	37	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.627|9.627	1.135264|1.135264	0.21123|0.21123	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000540128|ENST00000269383	.|T	.|0.58506	.|0.33	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|0.159823	.|0.29737	.|N	.|0.011327	T|T	0.39989|0.39989	0.1099|0.1099	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999987|0.999987	.|P	.|0.41102	.|0.738	.|B	.|0.40329	.|0.326	T|T	0.44997|0.44997	-0.9291|-0.9291	5|10	.|0.87932	.|D	.|0	.|.	13.6113|13.6113	0.62080|0.62080	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|163	.|Q6PJ69	.|TRI65_HUMAN	V|C	154|163	.|ENSP00000269383:R163C	.|ENSP00000269383:R163C	A|R	-|-	2|1	0|0	TRIM65|TRIM65	71400454|71400454	0.232000|0.232000	0.23762|0.23762	0.118000|0.118000	0.21660|0.21660	0.002000|0.002000	0.02628|0.02628	1.979000|1.979000	0.40608|0.40608	2.358000|2.358000	0.79984|0.79984	0.556000|0.556000	0.70494|0.70494	GCG|CGC		0.667	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		A	73888859	G	A	73888859	3	1	375	1	0	0	0	0	1	0	0	0	16544	1087	38	1	1086	1	TRIM65	17	73888859	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	8158372	73888859	7306351	62	20867											
ABCA7	10347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1051287	1051287	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:1051287C>G	ENST00000263094.6	+	20	3049	c.2818C>G	c.(2818-2820)Ctc>Gtc	p.L940V	ABCA7_ENST00000433129.1_Missense_Mutation_p.L940V|ABCA7_ENST00000435683.2_Missense_Mutation_p.L802V	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	940	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.L940V(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTCGCCACCTCTCTGGTGA	0.657																																																1	Substitution - Missense(1)	kidney(1)											47	45	45					19																	1051287		2195	4288	6483	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2818C>G	19.37:g.1051287C>G	ENSP00000263094:p.Leu940Val		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992585	0.74703	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97232	-4.3;-4.3	4.49	4.49	0.54785	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	D	0.98698	0.9563	M	0.92219	3.285	0.41148	D	0.986007	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.99869	1.1094	9	0.87932	D	0	.	14.6452	0.68756	0.0:1.0:0.0:0.0	.	802;940	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	V	940	ENSP00000263094:L940V;ENSP00000414062:L940V	ENSP00000263094:L940V	L	+	1	0	ABCA7	1002287	1.000000	0.71417	0.977000	0.42913	0.846000	0.48090	7.135000	0.77276	2.050000	0.60909	0.455000	0.32223	CTC		0.657	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		G	1051287	C	G	1051287	3	3	375	1	0	0	0	0	1	0	0	0	37	681	24	4	2892	4	ABCA7	19	1051287	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08		1051287	58077696	63	20868											
UHRF1	29128	broad.mit.edu;hgsc.bcm.edu	37	19	4954476	4954476	+	RNA	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:4954476G>T	ENST00000592666.1	+	0	2509							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G658C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GACGGGCAAGGGCAAGTGGAA	0.652																																																1	Substitution - Missense(1)	kidney(1)											43	53	49					19																	4954476		2074	4175	6249			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4954476G>T			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Missense_Mutation	SNP	ENST00000592666.1	37		.	.	.	.	.	.	.	.	.	.	G	17.12	3.308344	0.60305	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	3.88	1.7	0.24286	.	0.745999	0.12616	N	0.453403	T	0.47691	0.1459	L	0.27053	0.805	0.38757	D	0.954235	D;D	0.71674	0.998;0.992	P;P	0.58077	0.819;0.832	T	0.56739	-0.7929	8	0.59425	D	0.04	.	9.5819	0.39493	0.1747:0.0:0.8253:0.0	.	658;645	Q2HIX7;Q96T88	.;UHRF1_HUMAN	C	645;260;645;645;658	.	ENSP00000262952:G645C	G	+	1	0	UHRF1	4905476	1.000000	0.71417	0.889000	0.34880	0.783000	0.44284	1.593000	0.36686	0.250000	0.21479	0.462000	0.41574	GGC		0.652	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		T	4954476	G	T	4954476	1	4	375	0	1	0	0	0	0	0	0	0	16972	1232	43	4		4	UHRF1	19	4954476	RNA	SNP	G	TCGA-BP-4960-01A-01D-1462-08	3903189	4954476	54174507	64	20869											
LASS4	79603	hgsc.bcm.edu;ucsc.edu	37	19	8322833	8322835	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:8322833_8322835delTCT	ENST00000251363.5	+	10	1112_1114	c.812_814delTCT	c.(811-816)gtcttc>gtc	p.F273del	CERS4_ENST00000559336.1_Intron|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_In_Frame_Del_p.F273del|CERS4_ENST00000558331.1_In_Frame_Del_p.F222del	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	273	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTCTCCTTTGTCTTCTTCTACAC	0.567																																																0																																										SO:0001651	inframe_deletion	0				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.812_814delTCT	19.37:g.8322839_8322841delTCT	ENSP00000251363:p.Phe273del		D6W665	In_Frame_Del	DEL	ENST00000251363.5	37	CCDS12197.1																																																																																				0.567	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		-	8322835	TCT	-	8322833	7	5	375	1	0	1	0	1	0	0	0	0	8643	1667	58	0	842	0	LASS4	19	8322833	In_Frame_Del	DEL	TCT	TCGA-BP-4960-01A-01D-1462-08	3368357	8322833	50806150	65	20870											
PGLYRP2	114770	broad.mit.edu;hgsc.bcm.edu	37	19	15586606	15586606	+	Missense_Mutation	SNP	G	G	A	rs372471706		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:15586606G>A	ENST00000340880.4	-	2	1355	c.875C>T	c.(874-876)cCc>cTc	p.P292L	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P292L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	292					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.P292L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGATGGCCGGGGCTCAGGAGT	0.617																																																2	Substitution - Missense(2)	kidney(2)						G	LEU/PRO	0,4406		0,0,2203	34	37	36		875	5.3	0.9	19		36	1,8599	1.2+/-3.3	0,1,4299	no	missense	PGLYRP2	NM_052890.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	292/577	15586606	1,13005	2203	4300	6503	SO:0001583	missense	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.875C>T	19.37:g.15586606G>A	ENSP00000345968:p.Pro292Leu		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305037	0.40795	0.0	1.16E-4	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04862	3.55;3.54	5.31	5.31	0.75309	.	0.226623	0.36665	N	0.002475	T	0.26048	0.0635	M	0.80847	2.515	0.46113	D	0.998878	D;D	0.67145	0.996;0.993	D;D	0.69824	0.966;0.925	T	0.00708	-1.1600	10	0.87932	D	0	-19.4145	14.4865	0.67622	0.0:0.0:1.0:0.0	.	292;292	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	L	292	ENSP00000345968:P292L;ENSP00000292609:P292L	ENSP00000292609:P292L	P	-	2	0	PGLYRP2	15447606	1.000000	0.71417	0.919000	0.36401	0.052000	0.14988	3.976000	0.56867	2.500000	0.84329	0.561000	0.74099	CCC		0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		A	15586606	G	A	15586606	3	1	375	1	0	0	0	0	1	0	0	0	11796	1232	43	2	871	2	PGLYRP2	19	15586606	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	7263773	15586606	43542377	66	20871											
MAST3	23031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18254635	18254635	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:18254635G>T	ENST00000262811.6	+	21	2315	c.2315G>T	c.(2314-2316)gGt>gTt	p.G772V	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	772							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.G794V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCGAGCGGGGTCCCAGCCCA	0.622																																																1	Substitution - Missense(1)	kidney(1)											35	39	38					19																	18254635		1991	4166	6157	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2315G>T	19.37:g.18254635G>T	ENSP00000262811:p.Gly772Val		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784813	0.31593	.	.	ENSG00000099308	ENST00000262811	T	0.66280	-0.2	4.82	4.82	0.62117	.	0.434074	0.26065	N	0.026541	T	0.51058	0.1652	L	0.34521	1.04	0.58432	D	0.999999	B	0.33022	0.394	B	0.27380	0.079	T	0.53049	-0.8493	10	0.40728	T	0.16	-29.8014	16.8614	0.86019	0.0:0.0:1.0:0.0	.	772	O60307	MAST3_HUMAN	V	772	ENSP00000262811:G772V	ENSP00000262811:G772V	G	+	2	0	MAST3	18115635	1.000000	0.71417	0.998000	0.56505	0.477000	0.33069	5.362000	0.66098	2.235000	0.73313	0.491000	0.48974	GGT		0.622	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		T	18254635	G	T	18254635	3	4	375	1	0	0	0	0	1	0	0	0	9328	1261	44	4	2397	4	MAST3	19	18254635	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	2668029	18254635	40874348	67	20872											
CEACAM4	1089	hgsc.bcm.edu;ucsc.edu	37	19	42132122	42132123	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:42132122_42132123delCC	ENST00000221954.2	-	2	386_387	c.276_277delGG	c.(274-279)ggggccfs	p.A94fs	CEACAM4_ENST00000600925.1_Frame_Shift_Del_p.A94fs	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CTGTATGCGGCCCCTGGGATAT	0.485																																																0																																										SO:0001589	frameshift_variant	1089			D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.276_277delGG	19.37:g.42132124_42132125delCC	ENSP00000221954:p.Ala94fs		Q03715|Q7LDZ7	Frame_Shift_Del	DEL	ENST00000221954.2	37	CCDS33033.1																																																																																				0.485	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		-	42132123	CC	-	42132122	7	5	375	1	0	1	0	1	0	0	0	0	3196	739	26	0	481	0	CEACAM4	19	42132122	Frame_Shift_Del	DEL	CC	TCGA-BP-4960-01A-01D-1462-08	23877487	42132122	16996861	68	20873											
PRKCG	5582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54395811	54395811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:54395811G>A	ENST00000263431.3	+	7	1017	c.735G>A	c.(733-735)tgG>tgA	p.W245*	PRKCG_ENST00000542049.1_Nonsense_Mutation_p.W132*|PRKCG_ENST00000536044.1_Nonsense_Mutation_p.W245*|PRKCG_ENST00000540413.1_Nonsense_Mutation_p.W245*	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	245	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.W245*(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TGGAGGTGTGGGACTGGGACC	0.672																																																1	Substitution - Nonsense(1)	kidney(1)											56	43	47					19																	54395811		2203	4300	6503	SO:0001587	stop_gained	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.735G>A	19.37:g.54395811G>A	ENSP00000263431:p.Trp245*		B7Z8Q0	Nonsense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257847	0.95368	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4886	0.67634	0.0:0.0:1.0:0.0	.	.	.	.	X	245;245;245;132	.	ENSP00000263431:W245X	W	+	3	0	PRKCG	59087623	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.062000	0.93920	2.061000	0.61500	0.555000	0.69702	TGG		0.672	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		A	54395811	G	A	54395811	4	1	375	1	0	0	0	0	0	1	0	0	12517	1241	43	2	761	2	PRKCG	19	54395811	Nonsense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	12263689	54395811	4733172	69	20874											
TNNT1	7138	broad.mit.edu	37	19	55645564	55645564	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:55645564G>C	ENST00000588981.1	-	12	824	c.620C>G	c.(619-621)tCt>tGt	p.S207C	TNNT1_ENST00000587758.1_Intron|TNNT1_ENST00000291901.8_Intron|TNNT1_ENST00000585321.2_Intron|TNNT1_ENST00000356783.5_Intron|TNNT1_ENST00000587465.2_Intron|TNNT1_ENST00000536926.1_Intron|TNNT1_ENST00000588426.1_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	207					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)	p.S207C(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CAGCCAGGCAGACCGGGCCCT	0.632																																																1	Substitution - Missense(1)	kidney(1)											18	17	17					19																	55645564		2195	4291	6486	SO:0001583	missense	7138				CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"slow skeletal muscle troponin T", "troponin T1, skeletal, slow", "nemaline myopathy type 5"	191041	"troponin T1, skeletal, slow"			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.620C>G	19.37:g.55645564G>C	ENSP00000467176:p.Ser207Cys		O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.248064	0.22880	.	.	ENSG00000105048	ENST00000291901	.	.	.	1.45	1.45	0.22620	.	.	.	.	.	T	0.15522	0.0374	N	0.03608	-0.345	0.09310	N	0.999996	B	0.27068	0.167	B	0.23419	0.046	T	0.16748	-1.0392	8	0.59425	D	0.04	.	6.3168	0.21194	0.0:0.0:1.0:0.0	.	207	P13805	TNNT1_HUMAN	C	207	.	ENSP00000291901:S207C	S	-	2	0	TNNT1	60337376	0.002000	0.14202	0.002000	0.10522	0.010000	0.07245	0.818000	0.27295	1.116000	0.41820	0.443000	0.29094	TCT		0.632	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		C	55645564	G	C	55645564	3	2	375	1	0	0	0	0	1	0	0	0	16335	942	33	4	228	4	TNNT1	19	55645564	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	1249753	55645564	3483419	70	20875											
PARD6B	84612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	49367004	49367004	+	Silent	SNP	T	T	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr20:49367004T>C	ENST00000371610.2	+	3	1341	c.1098T>C	c.(1096-1098)gaT>gaC	p.D366D	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	366					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.D366D(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TAGAAGAAGATGGAACAATCA	0.388																																																1	Substitution - coding silent(1)	kidney(1)											46	44	45					20																	49367004		2203	4300	6503	SO:0001819	synonymous_variant	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.1098T>C	20.37:g.49367004T>C			A2A2A7|Q9Y510	Silent	SNP	ENST00000371610.2	37	CCDS33485.1																																																																																				0.388	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		C	49367004	T	C	49367004	2	2	375	1	0	0	0	0	0	0	0	1	11448	1461	51	3		3	PARD6B	20	49367004	Silent	SNP	T	TCGA-BP-4960-01A-01D-1462-08		49367004	13658516	71	20876											
C2CD2	25966	broad.mit.edu	37	21	43338331	43338331	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr21:43338331C>A	ENST00000380486.3	-	5	844	c.603G>T	c.(601-603)caG>caT	p.Q201H	C2CD2_ENST00000329623.7_Missense_Mutation_p.Q46H	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	201						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.Q201H(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TCTCAGCCACCTGGTCCTGGT	0.502																																																1	Substitution - Missense(1)	kidney(1)											103	84	91					21																	43338331		2203	4300	6503	SO:0001583	missense	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.603G>T	21.37:g.43338331C>A	ENSP00000369853:p.Gln201His		Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	8.995	0.978748	0.18812	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.24723	1.84;1.84	4.87	2.92	0.33932	.	2.027230	0.01913	N	0.040011	T	0.23572	0.0570	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.002	B;B	0.11329	0.006;0.001	T	0.19289	-1.0310	10	0.54805	T	0.06	-3.2206	5.4698	0.16664	0.1975:0.7008:0.0:0.1017	.	46;201	Q6P6D1;Q9Y426	.;CU025_HUMAN	H	46;201	ENSP00000329302:Q46H;ENSP00000369853:Q201H	ENSP00000329302:Q46H	Q	-	3	2	C2CD2	42211400	0.002000	0.14202	0.003000	0.11579	0.029000	0.11900	1.632000	0.37102	1.195000	0.43115	0.655000	0.94253	CAG		0.502	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		A	43338331	C	A	43338331	3	1	375	1	0	0	0	0	1	0	0	0	2154	680	24	4	1527	4	C2CD2	21	43338331	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08		43338331	4791564	72	20877											
LSS	4047	broad.mit.edu	37	21	47629493	47629493	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr21:47629493G>C	ENST00000397728.3	-	13	1319	c.1241C>G	c.(1240-1242)gCt>gGt	p.A414G	LSS_ENST00000522411.1_Missense_Mutation_p.A403G|LSS_ENST00000457828.2_Missense_Mutation_p.A334G|LSS_ENST00000356396.4_Missense_Mutation_p.A414G	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	414					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)	p.A414G(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GAACTCATGAGCCTTCTGCAG	0.657																																					Pancreas(114;955 2313 34923 50507)											1	Substitution - Missense(1)	kidney(1)											45	41	42					21																	47629493		2202	4297	6499	SO:0001583	missense	4047			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1241C>G	21.37:g.47629493G>C	ENSP00000380837:p.Ala414Gly		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802699	0.50315	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.3	5.3	0.74995	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.993	T	0.59768	-0.7392	10	0.32370	T	0.25	.	18.9185	0.92516	0.0:0.0:1.0:0.0	.	403;414	E9PEI9;P48449	.;ERG7_HUMAN	G	414;334;414;403	ENSP00000348762:A414G;ENSP00000409191:A334G;ENSP00000380837:A414G;ENSP00000429133:A403G	ENSP00000348762:A414G	A	-	2	0	LSS	46453921	1.000000	0.71417	0.886000	0.34754	0.047000	0.14425	7.573000	0.82421	2.649000	0.89929	0.655000	0.94253	GCT		0.657	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			C	47629493	G	C	47629493	3	2	375	1	0	0	0	0	1	0	0	0	9067	971	34	4	997	4	LSS	21	47629493	Missense_Mutation	SNP	G	TCGA-BP-4960-01A-01D-1462-08	4291162	47629493	500402	73	20878											
ZDHHC8	29801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	20130731	20130731	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr22:20130731C>A	ENST00000334554.7	+	10	1719	c.1578C>A	c.(1576-1578)agC>agA	p.S526R	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.S526R|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.S434R	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	526					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S526R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCAGCTTCAGCCCCGTGCTGG	0.706																																																1	Substitution - Missense(1)	kidney(1)											15	19	18					22																	20130731		2175	4261	6436	SO:0001583	missense	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1578C>A	22.37:g.20130731C>A	ENSP00000334490:p.Ser526Arg		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	14.73	2.623940	0.46840	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.75477	1.09;-0.94;1.04	4.79	2.69	0.31865	.	1.160520	0.06136	N	0.671521	D	0.82678	0.5089	L	0.51422	1.61	0.58432	D	0.999997	B;D;D	0.76494	0.041;0.999;0.999	B;D;D	0.83275	0.028;0.983;0.996	T	0.69862	-0.5030	10	0.54805	T	0.06	.	9.3655	0.38221	0.0:0.7769:0.0:0.2231	.	434;526;526	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	R	526;434;526	ENSP00000334490:S526R;ENSP00000317804:S434R;ENSP00000384716:S526R	ENSP00000317804:S434R	S	+	3	2	ZDHHC8	18510731	1.000000	0.71417	0.996000	0.52242	0.514000	0.34195	1.646000	0.37249	0.453000	0.26858	0.491000	0.48974	AGC		0.706	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		A	20130731	C	A	20130731	3	1	375	1	0	0	0	0	1	0	0	0	17626	738	26	4	1616	4	ZDHHC8	22	20130731	Missense_Mutation	SNP	C	TCGA-BP-4960-01A-01D-1462-08		20130731	31173835	74	20879											
GPC4	2239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	132437029	132437029	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chrX:132437029A>C	ENST00000370828.3	-	9	2061	c.1537T>G	c.(1537-1539)Tac>Gac	p.Y513D	GPC4_ENST00000535467.1_Missense_Mutation_p.Y443D	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	513					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Y513D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTGGCATTGTAGTCAAACTCT	0.478																																																1	Substitution - Missense(1)	kidney(1)											257	220	232					X																	132437029		2203	4300	6503	SO:0001583	missense	2239			AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1537T>G	X.37:g.132437029A>C	ENSP00000359864:p.Tyr513Asp		B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	a	5.637	0.302129	0.10678	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.49720	0.77;0.77	5.63	4.43	0.53597	.	0.412949	0.28354	N	0.015645	T	0.28962	0.0719	N	0.08118	0	0.30401	N	0.780061	B	0.31625	0.332	B	0.34242	0.178	T	0.21930	-1.0231	10	0.37606	T	0.19	-23.6384	11.0598	0.47940	0.8466:0.1534:0.0:0.0	.	513	O75487	GPC4_HUMAN	D	513;507;443	ENSP00000359864:Y513D;ENSP00000444959:Y443D	ENSP00000359864:Y513D	Y	-	1	0	GPC4	132264695	0.112000	0.22096	0.216000	0.23742	0.022000	0.10575	1.089000	0.30890	0.721000	0.32231	0.483000	0.47432	TAC		0.478	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		C	132437029	A	C	132437029	3	2	375	1	0	0	0	0	1	0	0	0	6602	420	15	5	137	5	GPC4	23	132437029	Missense_Mutation	SNP	A	TCGA-BP-4960-01A-01D-1462-08		132437029	22833531	75	20880											
VHL	7428	hgsc.bcm.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-BP-4961-01A-01D-1392-10	TCGA-BP-4961-11A-01D-1392-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	a121fc07-a7cd-4561-8cff-de1d3af81e5b	de2de206-b708-4406-9b05-5573e729213a	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7	11	9					3																	10183725		2133	4211	6344	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>A	3.37:g.10183725C>A	ENSP00000256474:p.Ser65*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576281	0.86645	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.54	4.67	0.58626	.	0.055860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	rs5030826	.	.	.	X	65	.	ENSP00000256474:S65X	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183725	C	A	10183725	4	1	376	1	0	0	0	0	0	1	0	0	17167	893	31	4	196	4	VHL	3	10183725	Nonsense_Mutation	SNP	C	TCGA-BP-4961-01A-01D-1392-10		10183725	187838705	1	20881											
C1orf173	127254	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	75037720	75037720	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:75037720C>T	ENST00000326665.5	-	14	3892	c.3674G>A	c.(3673-3675)gGa>gAa	p.G1225E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1225	Glu-rich.							p.G1225E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCACCTTTCCTGCTGGCTC	0.627																																																1	Substitution - Missense(1)	kidney(1)											69	69	69					1																	75037720		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.3674G>A	1.37:g.75037720C>T	ENSP00000322609:p.Gly1225Glu		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	8.984	0.976167	0.18736	.	.	ENSG00000178965	ENST00000326665	T	0.11385	2.78	4.88	-0.474	0.12108	.	.	.	.	.	T	0.01627	0.0052	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.48801	-0.9003	9	0.02654	T	1	-1.0443	5.9402	0.19189	0.0:0.5706:0.13:0.2993	.	1225	Q5RHP9	CA173_HUMAN	E	1225	ENSP00000322609:G1225E	ENSP00000322609:G1225E	G	-	2	0	C1orf173	74810308	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.826000	0.01705	-0.390000	0.07774	-0.219000	0.12488	GGA		0.627	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			T	75037720	C	T	75037720	3	4	377	1	0	0	0	0	1	0	0	0	2016	855	30	2	922	2	C1orf173	1	75037720	Missense_Mutation	SNP	C	TCGA-BP-4961-01A-01D-1462-08		75037720	174212901	1	20882											
DNTTIP2	30836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94343391	94343391	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:94343391G>T	ENST00000436063.2	-	2	157	c.100C>A	c.(100-102)Cat>Aat	p.H34N	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	34					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.H34N(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTTTCTGGATGCGCTTGAATC	0.443																																																1	Substitution - Missense(1)	kidney(1)											41	38	39					1																	94343391		1874	4117	5991	SO:0001583	missense	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.100C>A	1.37:g.94343391G>T	ENSP00000411010:p.His34Asn		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443151	0.25987	.	.	ENSG00000067334	ENST00000436063;ENST00000528680	T	0.16073	2.37	4.37	2.45	0.29901	.	0.275476	0.26321	N	0.025053	T	0.03871	0.0109	L	0.34521	1.04	0.18873	N	0.999988	B	0.12013	0.005	B	0.10450	0.005	T	0.33007	-0.9885	10	0.62326	D	0.03	.	4.138	0.10179	0.1905:0.0:0.6243:0.1852	.	34	Q5QJE6	TDIF2_HUMAN	N	34;41	ENSP00000411010:H34N	ENSP00000352137:H34N	H	-	1	0	DNTTIP2	94115979	0.705000	0.27846	0.505000	0.27651	0.021000	0.10359	0.564000	0.23563	0.751000	0.32900	0.644000	0.83932	CAT		0.443	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		T	94343391	G	T	94343391	3	4	377	1	0	0	0	0	1	0	0	0	4684	1319	46	4	2194	4	DNTTIP2	1	94343391	Missense_Mutation	SNP	G	TCGA-BP-4961-01A-01D-1462-08	19305671	94343391	154907230	2	20883											
KCND3	3752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	112524490	112524490	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:112524490C>T	ENST00000315987.2	-	2	1338	c.859G>A	c.(859-861)Gtc>Atc	p.V287I	KCND3_ENST00000302127.4_Missense_Mutation_p.V287I|KCND3_ENST00000369697.1_Missense_Mutation_p.V287I	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	287					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.V287I(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CGGAGCGTGACGAAGGCGCCG	0.597																																																1	Substitution - Missense(1)	kidney(1)											83	84	84					1																	112524490		2203	4300	6503	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.859G>A	1.37:g.112524490C>T	ENSP00000319591:p.Val287Ile		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825022	0.90955	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97430	-4.38;-4.38;-4.38	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	L	0.61218	1.895	0.80722	D	1	D;D	0.56968	0.978;0.978	P;P	0.58077	0.832;0.832	D	0.96949	0.9693	10	0.48119	T	0.1	.	19.2827	0.94058	0.0:1.0:0.0:0.0	.	287;287	Q14D71;Q9UK17	.;KCND3_HUMAN	I	287	ENSP00000358711:V287I;ENSP00000319591:V287I;ENSP00000306923:V287I	ENSP00000306923:V287I	V	-	1	0	KCND3	112326013	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.659000	0.90383	0.655000	0.94253	GTC		0.597	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		T	112524490	C	T	112524490	3	4	377	1	0	0	0	0	1	0	0	0	8022	536	19	1	1136	1	KCND3	1	112524490	Missense_Mutation	SNP	C	TCGA-BP-4961-01A-01D-1462-08	18181099	112524490	136726131	3	20884											
HMGCS2	3158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120307117	120307117	+	Silent	SNP	C	C	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:120307117C>A	ENST00000369406.3	-	2	286	c.237G>T	c.(235-237)gtG>gtT	p.V79V	HMGCS2_ENST00000544913.2_Silent_p.V79V|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	79					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.V79V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTCCTGCTTCCACATTGTTAT	0.542																																																1	Substitution - coding silent(1)	kidney(1)											137	129	132					1																	120307117		2203	4300	6503	SO:0001819	synonymous_variant	3158			BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.237G>T	1.37:g.120307117C>A			B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Silent	SNP	ENST00000369406.3	37	CCDS905.1																																																																																				0.542	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		A	120307117	C	A	120307117	2	1	377	1	0	0	0	0	0	0	0	1	7235	581	21	4		4	HMGCS2	1	120307117	Silent	SNP	C	TCGA-BP-4961-01A-01D-1462-08	7782627	120307117	128943504	4	20885											
RFX5	5993	hgsc.bcm.edu	37	1	151315565	151315566	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:151315565_151315566insC	ENST00000290524.4	-	11	1125_1126	c.947_948insG	c.(946-948)ggafs	p.G316fs	RFX5_ENST00000452513.2_Frame_Shift_Ins_p.G276fs|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.G316fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.G316fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	316					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTTATTGGCTCCTGGGGCCGA	0.584																																																0																																										SO:0001589	frameshift_variant	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.948dupG	1.37:g.151315567_151315567dupC	ENSP00000290524:p.Gly316fs		B7Z848|D3DV19|E9PFU4|Q5VWC3	Frame_Shift_Ins	INS	ENST00000290524.4	37	CCDS994.1																																																																																				0.584	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		C	151315566	-	C	151315565	7	5	377	1	0	1	1	0	0	0	0	0	13272	1538	54	0	906	0	RFX5	1	151315565	Frame_Shift_Ins	INS	-	TCGA-BP-4961-01A-01D-1462-08	31008448	151315565	97935056	5	20886											
ZBTB41	360023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197169423	197169423	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:197169423T>C	ENST00000367405.4	-	1	249	c.181A>G	c.(181-183)Aga>Gga	p.R61G	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R61G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAAAGCTTTCTCTGATCTGGA	0.383																																																1	Substitution - Missense(1)	kidney(1)											78	83	81					1																	197169423		2203	4300	6503	SO:0001583	missense	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.181A>G	1.37:g.197169423T>C	ENSP00000356375:p.Arg61Gly		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.259781	0.59321	.	.	ENSG00000177888	ENST00000367405	T	0.06528	3.29	4.96	4.96	0.65561	BTB/POZ fold (1);	0.000000	0.47455	D	0.000238	T	0.05960	0.0155	L	0.27053	0.805	0.38914	D	0.957586	P	0.47409	0.895	B	0.38842	0.283	T	0.33085	-0.9882	10	0.87932	D	0	.	14.6277	0.68635	0.0:0.0:0.0:1.0	.	61	Q5SVQ8	ZBT41_HUMAN	G	61	ENSP00000356375:R61G	ENSP00000356375:R61G	R	-	1	2	ZBTB41	195436046	1.000000	0.71417	0.996000	0.52242	0.886000	0.51366	3.662000	0.54510	1.838000	0.53458	0.254000	0.18369	AGA		0.383	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		C	197169423	T	C	197169423	3	2	377	1	0	0	0	0	1	0	0	0	17548	1559	54	3	2588	3	ZBTB41	1	197169423	Missense_Mutation	SNP	T	TCGA-BP-4961-01A-01D-1462-08	45853858	197169423	52081198	6	20887											
PTPN4	5775	hgsc.bcm.edu;ucsc.edu	37	2	120690059	120690060	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr2:120690059_120690060insA	ENST00000263708.2	+	14	1901_1902	c.1130_1131insA	c.(1129-1134)tcaatafs	p.I378fs	PTPN4_ENST00000544261.1_Frame_Shift_Ins_p.I11fs	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	378					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGCAGAAATTCAATATCTGATG	0.366																																																0																																										SO:0001589	frameshift_variant	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1132dupA	2.37:g.120690061_120690061dupA	ENSP00000263708:p.Ile378fs		B2RBV8|Q9UDA7	Frame_Shift_Ins	INS	ENST00000263708.2	37	CCDS2129.1																																																																																				0.366	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			A	120690060	-	A	120690059	7	5	377	1	0	1	1	0	0	0	0	0	12796	838	29	0	1180	0	PTPN4	2	120690059	Frame_Shift_Ins	INS	-	TCGA-BP-4961-01A-01D-1462-08		120690059	122509314	7	20888											
VHL	7428	broad.mit.edu	37	3	10183714	10183720	+	Frame_Shift_Del	DEL	CGTGCTG	CGTGCTG	-	rs63650860|rs104893827	byFrequency	TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	CGTGCTG	CGTGCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr3:10183714_10183720delCGTGCTG	ENST00000256474.2	+	1	1023_1029	c.183_189delCGTGCTG	c.(181-189)cccgtgctgfs	p.PVL61fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.PVL61fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	61					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V62fs*5(8)|p.P61P(4)|p.E52_S65del(2)|p.V62fs*68(2)|p.?(2)|p.L63fs*4(2)|p.R64fs*63(2)|p.P59_P61del(1)|p.G57fs*69(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.P61fs*61(1)|p.L63*(1)|p.P61fs*70(1)|p.G57fs*4(1)|p.R60fs*70(1)|p.V62fs*3(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGCCGCGGCCCGTGCTGCGCTCGGTGA	0.729		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	33	Deletion - Frameshift(20)|Substitution - coding silent(4)|Deletion - In frame(3)|Complex - frameshift(2)|Unknown(2)|Substitution - Nonsense(1)|Complex - deletion inframe(1)	kidney(31)|soft_tissue(1)|pancreas(1)	GRCh37	CD941803|CI011896|CM981997	VHL	D|I|M	rs104893827|rs5030651																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.183_189delCGTGCTG	3.37:g.10183714_10183720delCGTGCTG	ENSP00000256474:p.Pro61fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.729	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183720	CGTGCTG	-	10183714	7	5	377	1	0	1	0	1	0	0	0	0	17167	639	23	0	185	0	VHL	3	10183714	Frame_Shift_Del	DEL	CGTGCTG	TCGA-BP-4961-01A-01D-1462-08		10183714	187838716	8	20889											
WNT7A	7476	broad.mit.edu	37	3	13921263	13921263	+	Silent	SNP	G	G	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr3:13921263G>T	ENST00000285018.4	-	1	355	c.51C>A	c.(49-51)ggC>ggA	p.G17G	WNT7A_ENST00000497808.1_5'Flank	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	17					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.G17G(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GGTAGACCATGCCCAGGCTGA	0.701																																																1	Substitution - coding silent(1)	kidney(1)											47	47	47					3																	13921263		2203	4300	6503	SO:0001819	synonymous_variant	7476			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.51C>A	3.37:g.13921263G>T			Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	CCDS2616.1																																																																																				0.701	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		T	13921263	G	T	13921263	2	4	377	1	0	0	0	0	0	0	0	1	17399	1306	46	4		4	WNT7A	3	13921263	Silent	SNP	G	TCGA-BP-4961-01A-01D-1462-08	3737549	13921263	184101167	9	20890											
MAP4	4134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47957988	47957988	+	Silent	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr3:47957988C>T	ENST00000360240.6	-	7	1847	c.1329G>A	c.(1327-1329)gaG>gaA	p.E443E	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.E443E|MAP4_ENST00000426837.2_Silent_p.E460E	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	443	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E443E(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCAGGGCTACCTCTGTTTCTG	0.493																																																2	Substitution - coding silent(2)	kidney(2)											92	82	85					3																	47957988		2203	4300	6503	SO:0001819	synonymous_variant	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1329G>A	3.37:g.47957988C>T			Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	CCDS33750.1																																																																																				0.493	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		T	47957988	C	T	47957988	2	4	377	1	0	0	0	0	0	0	0	1	9260	680	24	2		2	MAP4	3	47957988	Silent	SNP	C	TCGA-BP-4961-01A-01D-1462-08	34036725	47957988	150064442	10	20891											
SLC12A2	6558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127466804	127466804	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr5:127466804G>T	ENST00000262461.2	+	5	1283	c.1094G>T	c.(1093-1095)gGt>gTt	p.G365V	SLC12A2_ENST00000343225.4_Missense_Mutation_p.G365V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	365					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.G365V(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CCAGAATTTGGTGGTGCAATT	0.373																																																1	Substitution - Missense(1)	kidney(1)											217	211	213					5																	127466804		2203	4300	6503	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1094G>T	5.37:g.127466804G>T	ENSP00000262461:p.Gly365Val		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562073	0.86335	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99804	-6.83;-6.83	4.93	4.93	0.64822	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96236	0.9172	10	0.87932	D	0	.	18.3301	0.90265	0.0:0.0:1.0:0.0	.	365;365	P55011-3;P55011	.;S12A2_HUMAN	V	365	ENSP00000262461:G365V;ENSP00000340878:G365V	ENSP00000262461:G365V	G	+	2	0	SLC12A2	127494703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.263000	0.95617	2.573000	0.86826	0.563000	0.77884	GGT		0.373	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		T	127466804	G	T	127466804	3	4	377	1	0	0	0	0	1	0	0	0	14389	1261	44	4	1112	4	SLC12A2	5	127466804	Missense_Mutation	SNP	G	TCGA-BP-4961-01A-01D-1462-08		127466804	53448456	11	20892											
FSTL4	23105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132585226	132585226	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr5:132585226A>G	ENST00000265342.7	-	7	1019	c.770T>C	c.(769-771)gTg>gCg	p.V257A	CTB-49A3.5_ENST00000515122.1_RNA|CTB-49A3.5_ENST00000504312.1_RNA|FSTL4_ENST00000507112.1_5'UTR	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	257	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V257A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACTGTGGTCACACTGACCCT	0.627											OREG0005128	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																				1	Substitution - Missense(1)	kidney(1)											76	60	66					5																	132585226		2203	4300	6503	SO:0001583	missense	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.770T>C	5.37:g.132585226A>G	ENSP00000265342:p.Val257Ala	1596	Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472029	0.84533	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.76839	-1.05	5.21	5.21	0.72293	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.183674	0.46442	D	0.000287	D	0.83889	0.5352	M	0.78285	2.405	0.58432	D	0.999996	D	0.58268	0.982	P	0.60286	0.872	T	0.81915	-0.0714	10	0.07175	T	0.84	-18.1004	14.5596	0.68126	1.0:0.0:0.0:0.0	.	257	Q6MZW2	FSTL4_HUMAN	A	257;88	ENSP00000265342:V257A	ENSP00000265342:V257A	V	-	2	0	FSTL4	132613125	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.046000	0.76592	2.094000	0.63399	0.383000	0.25322	GTG		0.627	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		G	132585226	A	G	132585226	3	3	377	1	0	0	0	0	1	0	0	0	6081	159	6	3	1798	3	FSTL4	5	132585226	Missense_Mutation	SNP	A	TCGA-BP-4961-01A-01D-1462-08	5118422	132585226	48330034	12	20893											
MAGI2	9863	hgsc.bcm.edu;ucsc.edu	37	7	78131009	78131010	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr7:78131009_78131010insC	ENST00000354212.4	-	5	1102_1103	c.849_850insG	c.(847-852)ctgaagfs	p.K284fs	MAGI2_ENST00000536571.1_Frame_Shift_Ins_p.K116fs|MAGI2_ENST00000419488.1_Frame_Shift_Ins_p.K284fs|MAGI2_ENST00000535697.1_Frame_Shift_Ins_p.K121fs|MAGI2_ENST00000522391.1_Frame_Shift_Ins_p.K284fs	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	284					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATCTGCTCCTTCAGCTCCTCAG	0.5																																																0																																										SO:0001589	frameshift_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.850dupG	7.37:g.78131010_78131010dupC	ENSP00000346151:p.Lys284fs		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Frame_Shift_Ins	INS	ENST00000354212.4	37	CCDS5594.1																																																																																				0.5	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		C	78131010	-	C	78131009	7	5	377	1	0	1	1	0	0	0	0	0	9193	1792	62	0	3589	0	MAGI2	7	78131009	Frame_Shift_Ins	INS	-	TCGA-BP-4961-01A-01D-1462-08		78131009	81007654	13	20894											
COPG2	26958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	130295934	130295934	+	Silent	SNP	A	A	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr7:130295934A>G	ENST00000445977.2	-	9	716	c.627T>C	c.(625-627)ctT>ctC	p.L209L				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	209					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)	p.L209L(1)		large_intestine(1)	1	Melanoma(18;0.0435)					TGGAAACAGCAAGTCGATCAT	0.373																																																1	Substitution - coding silent(1)	kidney(1)											83	79	80					7																	130295934		1888	4133	6021	SO:0001819	synonymous_variant	26958			AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"coat protein, nonclathrin, gamma-2-cop"	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.627T>C	7.37:g.130295934A>G			A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Silent	SNP	ENST00000445977.2	37																																																																																					0.373	COPG2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012133		G	130295934	A	G	130295934	2	3	377	1	0	0	0	0	0	0	0	1	3734	117	5	3		3	COPG2	7	130295934	Silent	SNP	A	TCGA-BP-4961-01A-01D-1462-08	52164925	130295934	28842729	14	20895											
MLL3	58508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151851228	151851228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr7:151851228G>T	ENST00000262189.6	-	48	12361	c.12143C>A	c.(12142-12144)tCa>tAa	p.S4048*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S4105*|KMT2C_ENST00000485241.1_5'UTR	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4048					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S4048*(1)|p.S4105*(1)									TCTTGATTCTGAACCTTTAAA	0.338																																																2	Substitution - Nonsense(2)	kidney(2)											58	61	60					7																	151851228		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12143C>A	7.37:g.151851228G>T	ENSP00000262189:p.Ser4048*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	54|54	22.503917|22.503917	0.99948|0.99948	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877;ENST00000418061	.|.	.|.	.|.	5.48|5.48	3.58|3.58	0.41010|0.41010	.|.	.|0.198066	.|0.24674	.|U	.|0.036529	T|.	0.34250|.	0.0891|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.06588|.	-1.0818|.	4|.	.|0.06757	.|T	.|0.87	.|.	9.4966|9.4966	0.38993|0.38993	0.2281:0.0:0.7719:0.0|0.2281:0.0:0.7719:0.0	.|.	.|.	.|.	.|.	L|X	1608|4048;4105;665;174	.|.	.|ENSP00000262189:S4048X	F|S	-|-	3|2	2|0	MLL3|MLL3	151482161|151482161	1.000000|1.000000	0.71417|0.71417	0.833000|0.833000	0.33012|0.33012	0.822000|0.822000	0.46500|0.46500	2.666000|2.666000	0.46799|0.46799	0.716000|0.716000	0.32124|0.32124	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			T	151851228	G	T	151851228	4	4	377	1	0	0	0	0	0	1	0	0	9624	1294	45	4	2640	4	MLL3	7	151851228	Nonsense_Mutation	SNP	G	TCGA-BP-4961-01A-01D-1462-08	21555294	151851228	7287435	15	20896											
GPAA1	8733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145138388	145138388	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr8:145138388G>C	ENST00000355091.4	+	3	472	c.351G>C	c.(349-351)gaG>gaC	p.E117D	GPAA1_ENST00000361036.6_Missense_Mutation_p.E57D|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	117					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)	p.E117D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCAGATGAGACCCACGAGC	0.632																																																1	Substitution - Missense(1)	kidney(1)											55	57	56					8																	145138388		1955	4145	6100	SO:0001583	missense	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.351G>C	8.37:g.145138388G>C	ENSP00000347206:p.Glu117Asp		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790979	0.70452	.	.	ENSG00000197858	ENST00000355091;ENST00000361036;ENST00000524418;ENST00000530258	.	.	.	5.27	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	L	0.57536	1.79	0.53688	D	0.999974	D;D	0.63880	0.993;0.991	P;P	0.57548	0.823;0.805	T	0.56780	-0.7922	9	0.19590	T	0.45	-24.1678	9.3255	0.37990	0.188:0.0:0.812:0.0	.	117;57	O43292;O43292-2	GPAA1_HUMAN;.	D	117;57;117;68	.	ENSP00000347206:E117D	E	+	3	2	GPAA1	145210376	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.219000	0.58561	0.536000	0.28733	-0.367000	0.07326	GAG		0.632	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		C	145138388	G	C	145138388	3	2	377	1	0	0	0	0	1	0	0	0	6589	933	33	4	361	4	GPAA1	8	145138388	Missense_Mutation	SNP	G	TCGA-BP-4961-01A-01D-1462-08		145138388	1225634	16	20897											
ASTN2	23245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	119802150	119802150	+	Silent	SNP	A	A	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr9:119802150A>G	ENST00000313400.4	-	6	1471	c.1371T>C	c.(1369-1371)tgT>tgC	p.C457C	ASTN2_ENST00000361209.2_Silent_p.C406C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.C457C			O75129	ASTN2_HUMAN	astrotactin 2	457					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.C406C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGTGAGTGGACAAGACATCT	0.537																																																1	Substitution - coding silent(1)	kidney(1)											112	89	97					9																	119802150		2203	4300	6503	SO:0001819	synonymous_variant	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1371T>C	9.37:g.119802150A>G			A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																					0.537	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		G	119802150	A	G	119802150	2	3	377	1	0	0	0	0	0	0	0	1	1065	273	10	3		3	ASTN2	9	119802150	Silent	SNP	A	TCGA-BP-4961-01A-01D-1462-08		119802150	21411281	17	20898											
KIF20B	9585	broad.mit.edu;hgsc.bcm.edu	37	10	91476196	91476196	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr10:91476196T>C	ENST00000371728.3	+	9	1009	c.944T>C	c.(943-945)cTa>cCa	p.L315P	KIF20B_ENST00000260753.4_Missense_Mutation_p.L315P|KIF20B_ENST00000416354.1_Missense_Mutation_p.L315P|KIF20B_ENST00000394289.2_Missense_Mutation_p.L315P	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	315	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.L315P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTTAAAGATCTACAATGGATT	0.294																																																1	Substitution - Missense(1)	kidney(1)											20	21	21					10																	91476196		2193	4285	6478	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.944T>C	10.37:g.91476196T>C	ENSP00000360793:p.Leu315Pro		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	T	19.53	3.844798	0.71603	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.21	5.21	0.72293	Kinesin, motor domain (4);	0.000000	0.39544	N	0.001331	D	0.91300	0.7257	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.996	D	0.93138	0.6539	10	0.87932	D	0	-6.5291	15.3692	0.74548	0.0:0.0:0.0:1.0	.	315;315	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	P	315	ENSP00000260753:L315P;ENSP00000411545:L315P;ENSP00000377830:L315P;ENSP00000360793:L315P	ENSP00000260753:L315P	L	+	2	0	KIF20B	91466176	1.000000	0.71417	0.962000	0.40283	0.805000	0.45488	7.411000	0.80078	2.099000	0.63709	0.482000	0.46254	CTA		0.294	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		C	91476196	T	C	91476196	3	2	377	1	0	0	0	0	1	0	0	0	8289	1522	53	3	974	3	KIF20B	10	91476196	Missense_Mutation	SNP	T	TCGA-BP-4961-01A-01D-1462-08		91476196	44058551	18	20899											
RRP12	23223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99120376	99120376	+	Splice_Site	SNP	C	C	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr10:99120376C>A	ENST00000370992.4	-	31	3679		c.e31-1		RRP12_ENST00000414986.1_Splice_Site|RRP12_ENST00000536831.1_Splice_Site|RRP12_ENST00000479481.1_Splice_Site|RRP12_ENST00000315563.6_Splice_Site	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)							integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGTGCTTTTTCTATAGAGAGA	0.547																																																1	Unknown(1)	kidney(1)											147	137	141					10																	99120376		2203	4300	6503	SO:0001630	splice_region_variant	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3568-1G>T	10.37:g.99120376C>A			B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Splice_Site	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917976	0.33815	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2638	0.73646	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRP12	99110366	1.000000	0.71417	0.984000	0.44739	0.281000	0.26958	1.900000	0.39828	2.343000	0.79666	0.462000	0.41574	.		0.547	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	Intron	A	99120376	C	A	99120376	5	1	377	1	0	0	0	0	0	0	1	0	13692	927	32	4	342	4	RRP12	10	99120376	Splice_Site	SNP	C	TCGA-BP-4961-01A-01D-1462-08	7644180	99120376	36414371	19	20900											
HSPA12A	259217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	118464696	118464696	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr10:118464696A>G	ENST00000369209.3	-	3	324	c.220T>C	c.(220-222)Ttc>Ctc	p.F74L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	74						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.F695L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCCTTGGTGAAGCTGTAGGCA	0.587																																																1	Substitution - Missense(1)	kidney(1)											120	130	126					10																	118464696		2155	4263	6418	SO:0001583	missense	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.220T>C	10.37:g.118464696A>G	ENSP00000358211:p.Phe74Leu			Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	A	35	5.546514	0.96488	.	.	ENSG00000165868	ENST00000369209	T	0.03663	3.85	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.14227	0.0344	M	0.72118	2.19	0.80722	D	1	D	0.58620	0.983	P	0.57548	0.823	T	0.00345	-1.1801	10	0.44086	T	0.13	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	74	O43301	HS12A_HUMAN	L	74	ENSP00000358211:F74L	ENSP00000358211:F74L	F	-	1	0	HSPA12A	118454686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.284000	0.95882	2.265000	0.75225	0.533000	0.62120	TTC		0.587	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		G	118464696	A	G	118464696	3	3	377	1	0	0	0	0	1	0	0	0	7406	72	3	3	1847	3	HSPA12A	10	118464696	Missense_Mutation	SNP	A	TCGA-BP-4961-01A-01D-1462-08	19344320	118464696	17070051	20	20901											
OSBPL5	114879	broad.mit.edu	37	11	3150289	3150289	+	Silent	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr11:3150289C>T	ENST00000263650.7	-	2	249	c.90G>A	c.(88-90)cgG>cgA	p.R30R	OSBPL5_ENST00000348039.5_Silent_p.R30R|OSBPL5_ENST00000389989.3_Silent_p.R30R|OSBPL5_ENST00000525498.1_5'Flank|OSBPL5_ENST00000542243.1_5'UTR	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	30					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)	p.R30R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGAGCAAGTTCCGGGTGAGCT	0.667																																																1	Substitution - coding silent(1)	kidney(1)											53	38	43					11																	3150289		2201	4296	6497	SO:0001819	synonymous_variant	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.90G>A	11.37:g.3150289C>T			A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	CCDS31344.1																																																																																				0.667	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			T	3150289	C	T	3150289	2	4	377	1	0	0	0	0	0	0	0	1	11282	842	30	2		2	OSBPL5	11	3150289	Silent	SNP	C	TCGA-BP-4961-01A-01D-1462-08		3150289	131856227	21	20902											
MARK2	2011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63668343	63668343	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr11:63668343G>A	ENST00000509502.2	+	10	1344	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	MARK2_ENST00000377809.4_Missense_Mutation_p.R327Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R327Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R327Q|MARK2_ENST00000402010.2_Missense_Mutation_p.R327Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R327Q|MARK2_ENST00000315032.8_Missense_Mutation_p.R327Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R294Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R294Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R294Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R327Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R327Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R294Q	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.R294Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGGACCCCCGGCGGACAGGT	0.547																																																1	Substitution - Missense(1)	kidney(1)											97	100	99					11																	63668343		2201	4297	6498	SO:0001583	missense	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.881G>A	11.37:g.63668343G>A	ENSP00000423974:p.Arg294Gln			Missense_Mutation	SNP	ENST00000509502.2	37	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967267	0.53507	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.0	5.0	0.66597	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Protein kinase-like domain (1);	0.181870	0.44688	N	0.000440	T	0.32734	0.0839	N	0.14661	0.345	0.38461	D	0.947216	B;B;B;B;B;B	0.21753	0.004;0.022;0.003;0.06;0.011;0.014	B;B;B;B;B;B	0.13407	0.004;0.004;0.006;0.007;0.004;0.009	T	0.20306	-1.0279	10	0.25106	T	0.35	.	10.7567	0.46241	0.0878:0.0:0.9122:0.0	.	294;294;327;327;327;327	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	Q	327;327;327;327;294;327;327;327;327;294;294;294;294	ENSP00000385751:R327Q;ENSP00000326632:R327Q;ENSP00000367040:R327Q;ENSP00000389184:R327Q;ENSP00000367041:R294Q;ENSP00000425765:R327Q;ENSP00000355091:R327Q;ENSP00000294247:R327Q;ENSP00000423974:R294Q;ENSP00000421075:R294Q;ENSP00000386128:R294Q;ENSP00000415494:R294Q	ENSP00000326632:R327Q	R	+	2	0	MARK2	63424919	0.008000	0.16893	1.000000	0.80357	0.997000	0.91878	0.660000	0.25009	2.583000	0.87209	0.557000	0.71058	CGG		0.547	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		A	63668343	G	A	63668343	3	1	377	1	0	0	0	0	1	0	0	0	9315	1116	39	1	1018	1	MARK2	11	63668343	Missense_Mutation	SNP	G	TCGA-BP-4961-01A-01D-1462-08	60518054	63668343	71338173	22	20903											
EFEMP2	30008	hgsc.bcm.edu;ucsc.edu	37	11	65637667	65637667	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr11:65637667C>T	ENST00000307998.6	-	6	762	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.V178M	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	178	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGCAGGTTCACGCAGCGGTGC	0.672																																																0													47	51	50					11																	65637667		2201	4295	6496	SO:0001583	missense	30008			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.532G>A	11.37:g.65637667C>T	ENSP00000309953:p.Val178Met		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137704	0.94517	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.88354	-2.34;-2.36;-2.37;-1.72	5.36	5.36	0.76844	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45606	D	0.000349	D	0.94089	0.8105	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.76071	0.987;0.656	D	0.93204	0.6594	10	0.39692	T	0.17	.	16.9411	0.86218	0.0:1.0:0.0:0.0	.	178;178	E9PRU1;O95967	.;FBLN4_HUMAN	M	178	ENSP00000434151:V178M;ENSP00000309953:V178M;ENSP00000435419:V178M;ENSP00000435963:V178M	ENSP00000309953:V178M	V	-	1	0	EFEMP2	65394243	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	5.789000	0.69029	2.674000	0.91012	0.561000	0.74099	GTG		0.672	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		T	65637667	C	T	65637667	3	4	377	1	0	0	0	0	1	0	0	0	4944	536	19	1	823	1	EFEMP2	11	65637667	Missense_Mutation	SNP	C	TCGA-BP-4961-01A-01D-1462-08	1969324	65637667	69368849	23	20904											
PCF11	51585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	82877718	82877718	+	Silent	SNP	T	T	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr11:82877718T>C	ENST00000298281.4	+	5	2231	c.1779T>C	c.(1777-1779)tcT>tcC	p.S593S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	593					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.S593S(1)|p.S692S(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTTCCAAGTCTGCCAAAAGAT	0.363																																																2	Substitution - coding silent(2)	kidney(2)											71	72	72					11																	82877718		1772	3912	5684	SO:0001819	synonymous_variant	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1779T>C	11.37:g.82877718T>C			A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	CCDS44689.1																																																																																				0.363	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		C	82877718	T	C	82877718	2	2	377	1	0	0	0	0	0	0	0	1	11575	1567	55	3		3	PCF11	11	82877718	Silent	SNP	T	TCGA-BP-4961-01A-01D-1462-08	17240051	82877718	52128798	24	20905											
ZNF770	54989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	35274804	35274804	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr15:35274804A>T	ENST00000356321.4	-	3	1176	c.832T>A	c.(832-834)Tct>Act	p.S278T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	278					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S278T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTCTCCTCAGATTCACCAATC	0.388																																																1	Substitution - Missense(1)	kidney(1)											48	49	49					15																	35274804		2201	4298	6499	SO:0001583	missense	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.832T>A	15.37:g.35274804A>T	ENSP00000348673:p.Ser278Thr		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	A	0.042	-1.281499	0.01398	.	.	ENSG00000198146	ENST00000356321	T	0.09630	2.96	5.17	2.83	0.33086	.	0.420049	0.19371	U	0.115905	T	0.05135	0.0137	N	0.12182	0.205	0.20821	N	0.999848	B	0.28128	0.201	B	0.26770	0.073	T	0.37126	-0.9719	10	0.28530	T	0.3	-8.3329	5.2783	0.15661	0.6718:0.1543:0.1739:0.0	.	278	Q6IQ21	ZN770_HUMAN	T	278	ENSP00000348673:S278T	ENSP00000348673:S278T	S	-	1	0	ZNF770	33062096	0.007000	0.16637	1.000000	0.80357	0.933000	0.57130	0.484000	0.22308	0.987000	0.38709	0.533000	0.62120	TCT		0.388	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		T	35274804	A	T	35274804	3	4	377	1	0	0	0	0	1	0	0	0	18148	333	12	5	1247	5	ZNF770	15	35274804	Missense_Mutation	SNP	A	TCGA-BP-4961-01A-01D-1462-08		35274804	67256588	25	20906											
MYO9A	4649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72300251	72300251	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr15:72300251G>C	ENST00000356056.5	-	8	1768	c.1296C>G	c.(1294-1296)atC>atG	p.I432M	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.I432M|MYO9A_ENST00000566885.1_Missense_Mutation_p.I27M|MYO9A_ENST00000424560.1_Missense_Mutation_p.I432M|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.I413M	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	432	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.I432M(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTTGTAACAGATATTACCCA	0.358																																																1	Substitution - Missense(1)	kidney(1)											124	124	124					15																	72300251		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1296C>G	15.37:g.72300251G>C	ENSP00000348349:p.Ile432Met		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655404	0.67586	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88431	-2.38;-2.38;-2.38	5.03	3.13	0.36017	Myosin head, motor domain (2);	.	.	.	.	D	0.91540	0.7328	L	0.51914	1.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.996;0.999	D;D;D;D	0.91635	0.999;0.955;0.962;0.993	D	0.91402	0.5144	9	0.87932	D	0	.	10.745	0.46175	0.1581:0.0:0.8419:0.0	.	413;432;413;432	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	M	432;432;413;413;432	ENSP00000348349:I432M;ENSP00000399162:I432M;ENSP00000398250:I413M	ENSP00000261864:I413M	I	-	3	3	MYO9A	70087305	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.608000	0.36847	1.241000	0.43820	0.462000	0.41574	ATC		0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		C	72300251	G	C	72300251	3	2	377	1	0	0	0	0	1	0	0	0	10086	932	33	4	6490	4	MYO9A	15	72300251	Missense_Mutation	SNP	G	TCGA-BP-4961-01A-01D-1462-08	37025447	72300251	30231141	26	20907											
ACAN	176	broad.mit.edu;hgsc.bcm.edu	37	15	89395179	89395179	+	Silent	SNP	T	T	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr15:89395179T>A	ENST00000561243.1	+	10	2181	c.2181T>A	c.(2179-2181)acT>acA	p.T727T	ACAN_ENST00000439576.2_Silent_p.T727T|ACAN_ENST00000352105.7_Silent_p.T727T|ACAN_ENST00000559004.1_Silent_p.T727T			P16112	PGCA_HUMAN	aggrecan	726	KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.T727T(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGGAGACTACTGCCATCCTAG	0.582																																																2	Substitution - coding silent(2)	kidney(2)											50	61	58					15																	89395179		2039	4186	6225	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2181T>A	15.37:g.89395179T>A			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																				0.582	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89395179	T	A	89395179	2	1	377	1	0	0	0	0	0	0	0	1	117	1567	55	5		5	ACAN	15	89395179	Silent	SNP	T	TCGA-BP-4961-01A-01D-1462-08	17094928	89395179	13136213	27	20908											
ANPEP	290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90340889	90340889	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr15:90340889A>G	ENST00000300060.6	-	15	2387	c.2074T>C	c.(2074-2076)Tac>Cac	p.Y692H	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	692	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.Y692H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CAGGGCATGTACTGTCTCTCT	0.562																																					NSCLC(30;827 977 2459 19669 26125)											1	Substitution - Missense(1)	kidney(1)											137	130	132					15																	90340889		2200	4299	6499	SO:0001583	missense	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2074T>C	15.37:g.90340889A>G	ENSP00000300060:p.Tyr692His		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611242	0.87258	.	.	ENSG00000166825	ENST00000300060	T	0.07444	3.19	5.33	5.33	0.75918	.	0.057505	0.64402	D	0.000001	T	0.32615	0.0835	M	0.85373	2.75	0.49687	D	0.999817	D	0.89917	1.0	D	0.79108	0.992	T	0.12116	-1.0560	10	0.62326	D	0.03	.	14.4077	0.67093	1.0:0.0:0.0:0.0	.	692	P15144	AMPN_HUMAN	H	692	ENSP00000300060:Y692H	ENSP00000300060:Y692H	Y	-	1	0	ANPEP	88141893	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	9.142000	0.94618	2.148000	0.66965	0.459000	0.35465	TAC		0.562	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			G	90340889	A	G	90340889	3	3	377	1	0	0	0	0	1	0	0	0	710	391	14	3	857	3	ANPEP	15	90340889	Missense_Mutation	SNP	A	TCGA-BP-4961-01A-01D-1462-08	945710	90340889	12190503	28	20909											
VWA3A	146177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	22162103	22162103	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr16:22162103G>A	ENST00000389398.5	+	30	3313	c.3217G>A	c.(3217-3219)Gtc>Atc	p.V1073I	VWA3A_ENST00000563755.1_Missense_Mutation_p.V175I|VWA3A_ENST00000389397.4_Missense_Mutation_p.V175I	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1073	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)		p.V269I(1)|p.V1073I(1)|p.V175I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTAAATGAAGTCCAAAAACT	0.448																																																3	Substitution - Missense(3)	kidney(3)											87	86	86					16																	22162103		1933	4137	6070	SO:0001583	missense	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3217G>A	16.37:g.22162103G>A	ENSP00000374049:p.Val1073Ile		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499580	0.44455	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.07114	3.22;3.22	5.44	4.49	0.54785	von Willebrand factor, type A (3);	0.151900	0.44285	D	0.000473	T	0.06690	0.0171	L	0.41632	1.29	0.27066	N	0.963436	B;P	0.37500	0.34;0.597	B;B	0.36534	0.214;0.227	T	0.22765	-1.0207	10	0.12103	T	0.63	.	8.2863	0.31930	0.1793:0.0:0.8207:0.0	.	1073;175	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	I	1073;175;696	ENSP00000374049:V1073I;ENSP00000374048:V175I	ENSP00000299840:V696I	V	+	1	0	VWA3A	22069604	1.000000	0.71417	0.752000	0.31206	0.840000	0.47671	3.088000	0.50175	1.290000	0.44636	0.650000	0.86243	GTC		0.448	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			A	22162103	G	A	22162103	3	1	377	1	0	0	0	0	1	0	0	0	17245	1029	36	2	3335	2	VWA3A	16	22162103	Missense_Mutation	SNP	G	TCGA-BP-4961-01A-01D-1462-08		22162103	68192650	29	20910											
CHD3	1107	broad.mit.edu;hgsc.bcm.edu	37	17	7806304	7806304	+	Silent	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr17:7806304C>T	ENST00000330494.7	+	22	3570	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G	CHD3_ENST00000380358.4_Silent_p.G1199G|CHD3_ENST00000358181.4_Silent_p.G1140G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1140	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G1140G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GAGCTGGGGGCCTGGGCATCA	0.547																																																1	Substitution - coding silent(1)	kidney(1)											94	96	95					17																	7806304		2203	4300	6503	SO:0001819	synonymous_variant	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3420C>T	17.37:g.7806304C>T			D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	CCDS32554.1																																																																																				0.547	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		T	7806304	C	T	7806304	2	4	377	1	0	0	0	0	0	0	0	1	3328	726	26	2		2	CHD3	17	7806304	Silent	SNP	C	TCGA-BP-4961-01A-01D-1462-08		7806304	73388906	30	20911											
FLCN	201163	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	17119744	17119744	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr17:17119744delA	ENST00000285071.4	-	11	1704	c.1250delT	c.(1249-1251)ttcfs	p.F417fs	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	417					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAGCCCCAGGAAGTTGCACCG	0.667									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																							0													97	76	83					17																	17119744		2203	4300	6503	SO:0001589	frameshift_variant	201163	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1250delT	17.37:g.17119744delA	ENSP00000285071:p.Phe417fs		A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Frame_Shift_Del	DEL	ENST00000285071.4	37	CCDS32579.1																																																																																				0.667	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		-	17119744	A	-	17119744	7	5	377	1	0	1	0	1	0	0	0	0	5923	246	9	0	505	0	FLCN	17	17119744	Frame_Shift_Del	DEL	A	TCGA-BP-4961-01A-01D-1462-08	9313440	17119744	64075466	31	20912											
IMP5	162540	hgsc.bcm.edu;ucsc.edu	37	17	43923077	43923077	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr17:43923077delC	ENST00000329196.5	+	1	822	c.805delC	c.(805-807)ctgfs	p.L270fs	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	270						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GCTCATGCTGCTGCTCTACTT	0.567																																																0													120	115	116					17																	43923077		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.805delC	17.37:g.43923077delC	ENSP00000332488:p.Leu270fs		Q8TC67|Q8WVZ6	Frame_Shift_Del	DEL	ENST00000329196.5	37	CCDS32673.1																																																																																				0.567	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		-	43923077	C	-	43923077	7	5	377	1	0	1	0	1	0	0	0	0	7723	796	28	0	807	0	IMP5	17	43923077	Frame_Shift_Del	DEL	C	TCGA-BP-4961-01A-01D-1462-08	26803333	43923077	37272133	32	20913											
ACOX1	51	hgsc.bcm.edu	37	17	73946942	73946942	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr17:73946942C>A	ENST00000301608.4	-	9	1271	c.1211G>T	c.(1210-1212)tGc>tTc	p.C404F	ACOX1_ENST00000293217.5_Missense_Mutation_p.C404F|ACOX1_ENST00000537812.1_Missense_Mutation_p.C366F	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	404					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	AAGACCACTGCAATGAGAATA	0.493																																																0													119	100	106					17																	73946942		2203	4300	6503	SO:0001583	missense	51			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1211G>T	17.37:g.73946942C>A	ENSP00000301608:p.Cys404Phe		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069238	0.55539	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.69040	-0.37;-0.37;-0.37	5.87	5.87	0.94306	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.119241	0.85682	D	0.000000	T	0.62134	0.2403	N	0.16903	0.455	0.80722	D	1	B;B;B;B	0.26147	0.001;0.143;0.0;0.0	B;B;B;B	0.38264	0.002;0.269;0.0;0.0	T	0.58393	-0.7644	10	0.45353	T	0.12	-15.3792	20.5827	0.99408	0.0:1.0:0.0:0.0	.	336;366;404;404	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	F	404;404;366;404;336	ENSP00000301608:C404F;ENSP00000293217:C404F;ENSP00000441257:C366F	ENSP00000293217:C404F	C	-	2	0	ACOX1	71458537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.788000	0.69020	2.941000	0.99782	0.655000	0.94253	TGC		0.493	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			A	73946942	C	A	73946942	3	1	377	1	0	0	0	0	1	0	0	0	158	710	25	4	795	4	ACOX1	17	73946942	Missense_Mutation	SNP	C	TCGA-BP-4961-01A-01D-1462-08	30023865	73946942	7248268	33	20914											
MC5R	4161	hgsc.bcm.edu;ucsc.edu	37	18	13826006	13826006	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr18:13826006C>T	ENST00000324750.3	+	1	464	c.242C>T	c.(241-243)gCg>gTg	p.A81V	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	81					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CTGGCAGTGGCGGACATGCTG	0.527																																																0													120	109	112					18																	13826006		2203	4300	6503	SO:0001583	missense	4161			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.242C>T	18.37:g.13826006C>T	ENSP00000318077:p.Ala81Val		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391403	0.83011	.	.	ENSG00000176136	ENST00000324750	T	0.79454	-1.27	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89368	0.6695	M	0.88377	2.95	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	D	0.91646	0.5331	10	0.87932	D	0	.	17.287	0.87145	0.0:1.0:0.0:0.0	.	81	P33032	MC5R_HUMAN	V	81	ENSP00000318077:A81V	ENSP00000318077:A81V	A	+	2	0	MC5R	13816006	1.000000	0.71417	0.042000	0.18584	0.770000	0.43624	7.423000	0.80229	2.311000	0.77944	0.455000	0.32223	GCG		0.527	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		T	13826006	C	T	13826006	3	4	377	1	0	0	0	0	1	0	0	0	9369	768	27	1	244	1	MC5R	18	13826006	Missense_Mutation	SNP	C	TCGA-BP-4961-01A-01D-1462-08		13826006	64251242	34	20915											
CXXC1	30827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	47808972	47808972	+	Silent	SNP	G	G	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr18:47808972G>A	ENST00000285106.6	-	15	2676	c.1962C>T	c.(1960-1962)gcC>gcT	p.A654A	MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000588937.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000398495.2_5'Flank|CXXC1_ENST00000589940.1_3'UTR|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Silent_p.A658A|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000353909.3_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	654					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.A654A(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTCAGCGGTCGGCACTGGAGC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											115	115	115					18																	47808972		2203	4300	6503	SO:0001819	synonymous_variant	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1962C>T	18.37:g.47808972G>A			B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	CCDS11945.1																																																																																				0.647	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		A	47808972	G	A	47808972	2	1	377	1	0	0	0	0	0	0	0	1	4099	1103	39	1		1	CXXC1	18	47808972	Silent	SNP	G	TCGA-BP-4961-01A-01D-1462-08	33982966	47808972	30268276	35	20916											
SERPINB5	5268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61154215	61154215	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr18:61154215G>A	ENST00000382771.4	+	3	497	c.205G>A	c.(205-207)Gga>Aga	p.G69R	RP11-635N19.3_ENST00000602456.1_RNA|SERPINB5_ENST00000489441.1_Missense_Mutation_p.G69R	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	69					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G69R(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TGTACCCTTTGGATTTCAAAC	0.373																																																1	Substitution - Missense(1)	kidney(1)											102	103	102					18																	61154215		2203	4300	6503	SO:0001583	missense	5268			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.205G>A	18.37:g.61154215G>A	ENSP00000372221:p.Gly69Arg		B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073881	0.36566	.	.	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.84589	-1.87;-1.87	5.32	5.32	0.75619	Serpin domain (3);	0.000000	0.64402	D	0.000001	D	0.90092	0.6905	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.83275	0.996;0.613	D	0.87974	0.2738	10	0.31617	T	0.26	.	18.1356	0.89618	0.0:0.0:1.0:0.0	.	69;69	P36952;P36952-2	SPB5_HUMAN;.	R	69	ENSP00000372221:G69R;ENSP00000408821:G69R	ENSP00000372221:G69R	G	+	1	0	SERPINB5	59305195	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.309000	0.59135	2.659000	0.90383	0.650000	0.86243	GGA		0.373	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		A	61154215	G	A	61154215	3	1	377	1	0	0	0	0	1	0	0	0	14110	1349	47	2	211	2	SERPINB5	18	61154215	Missense_Mutation	SNP	G	TCGA-BP-4961-01A-01D-1462-08	13345243	61154215	16923033	36	20917											
SUPT5H	6829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39964875	39964875	+	Splice_Site	SNP	T	T	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr19:39964875T>C	ENST00000599117.1	+	28	3020	c.2653T>C	c.(2653-2655)Tac>Cac	p.Y885H	SUPT5H_ENST00000402194.2_Splice_Site_p.Y881H|SUPT5H_ENST00000359191.6_Splice_Site_p.Y881H|SUPT5H_ENST00000598725.1_Splice_Site_p.Y885H|SUPT5H_ENST00000432763.2_Splice_Site_p.Y885H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	885	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.Y885H(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTCTGCAGGTACAACACAGA	0.632											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											140	139	139					19																	39964875		2203	4300	6503	SO:0001630	splice_region_variant	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2652-1T>C	19.37:g.39964875T>C		889	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627069	0.66901	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	L	0.36672	1.1	0.80722	D	1	D;B;B	0.63046	0.992;0.023;0.073	P;B;B	0.59288	0.855;0.049;0.12	T	0.59862	-0.7374	8	.	.	.	-16.7403	13.5134	0.61526	0.0:0.0:0.0:1.0	.	677;881;885	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	H	885;881;863;885	.	.	Y	+	1	0	SUPT5H	44656715	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.640000	0.83355	2.034000	0.60081	0.379000	0.24179	TAC		0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169	Missense_Mutation	C	39964875	T	C	39964875	5	2	377	1	0	0	0	0	0	0	1	0	15404	1652	57	3	2755	3	SUPT5H	19	39964875	Splice_Site	SNP	T	TCGA-BP-4961-01A-01D-1462-08		39964875	19164108	37	20918											
FAM116B	414918	broad.mit.edu;hgsc.bcm.edu	37	22	50752245	50752245	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr22:50752245T>G	ENST00000413817.3	-	14	1272	c.1201A>C	c.(1201-1203)Aag>Cag	p.K401Q	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	401					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K401Q(1)									CCATATACCTTGAGCAGCCGT	0.677																																																1	Substitution - Missense(1)	kidney(1)											33	39	37					22																	50752245		2087	4203	6290	SO:0001583	missense	0			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1201A>C	22.37:g.50752245T>G	ENSP00000391524:p.Lys401Gln		A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268640	0.59540	.	.	ENSG00000205593	ENST00000413817	.	.	.	4.85	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.79693	2.465	0.44719	D	0.997713	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.71394	-0.4606	9	0.36615	T	0.2	-24.2862	7.971	0.30127	0.0:0.0983:0.0:0.9017	.	401;401	Q8NEG7;C9JIV6	F116B_HUMAN;.	Q	401	.	ENSP00000391524:K401Q	K	-	1	0	FAM116B	49094817	0.998000	0.40836	0.999000	0.59377	0.239000	0.25481	2.757000	0.47557	1.800000	0.52685	0.379000	0.24179	AAG		0.677	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		G	50752245	T	G	50752245	3	3	377	1	0	0	0	0	1	0	0	0	5410	1821	63	5	584	5	FAM116B	22	50752245	Missense_Mutation	SNP	T	TCGA-BP-4961-01A-01D-1462-08		50752245	552321	38	20919											
SLC45A1	50651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	8390936	8390936	+	Silent	SNP	C	C	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr1:8390936C>T	ENST00000471889.1	+	5	1768	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D	SLC45A1_ENST00000289877.8_Silent_p.D461D|SLC45A1_ENST00000377479.2_Silent_p.D495D|SLC45A1_ENST00000481265.1_3'UTR|Y_RNA_ENST00000516445.1_RNA			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	461					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.D461D(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCCCGGACGCAGCCGGAG	0.607																																																1	Substitution - coding silent(1)	kidney(1)											51	64	59					1																	8390936		2203	4300	6503	SO:0001819	synonymous_variant	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1383C>T	1.37:g.8390936C>T			Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	CCDS30577.1																																																																																				0.607	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			T	8390936	C	T	8390936	2	4	378	1	0	0	0	0	0	0	0	1	14646	535	19	1		1	SLC45A1	1	8390936	Silent	SNP	C	TCGA-BP-4962-01A-01D-1462-08		8390936	240859685	1	20920											
NCDN	23154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36026446	36026446	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr1:36026446G>C	ENST00000373243.2	+	3	1077	c.694G>C	c.(694-696)Gct>Cct	p.A232P	NCDN_ENST00000373253.3_Missense_Mutation_p.A215P|NCDN_ENST00000356090.4_Missense_Mutation_p.A232P	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	232					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.A215P(1)|p.A232P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTCCAGAAAGCTGAGGATGC	0.647																																																2	Substitution - Missense(2)	kidney(2)											51	49	50					1																	36026446		2203	4300	6503	SO:0001583	missense	23154			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.694G>C	1.37:g.36026446G>C	ENSP00000362340:p.Ala232Pro		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315744	0.60524	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	T;T;T	0.68025	-0.3;-0.3;-0.3	4.85	4.85	0.62838	.	0.058880	0.64402	D	0.000002	T	0.73063	0.3539	L	0.38175	1.15	0.58432	D	0.999997	D	0.65815	0.995	D	0.63703	0.917	T	0.72956	-0.4134	10	0.42905	T	0.14	.	17.1306	0.86725	0.0:0.0:1.0:0.0	.	232	Q9UBB6	NCDN_HUMAN	P	215;232;232;215	ENSP00000362350:A215P;ENSP00000348394:A232P;ENSP00000362340:A232P	ENSP00000348394:A232P	A	+	1	0	NCDN	35799033	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	3.800000	0.55537	2.517000	0.84864	0.462000	0.41574	GCT		0.647	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		C	36026446	G	C	36026446	3	2	378	1	0	0	0	0	1	0	0	0	10216	971	34	4	704	4	NCDN	1	36026446	Missense_Mutation	SNP	G	TCGA-BP-4962-01A-01D-1462-08	27635510	36026446	213224175	2	20921											
CLASP1	23332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	122273322	122273322	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr2:122273322A>G	ENST00000263710.4	-	7	952	c.563T>C	c.(562-564)aTa>aCa	p.I188T	CLASP1_ENST00000455322.2_Missense_Mutation_p.I188T|CLASP1_ENST00000397587.3_Missense_Mutation_p.I188T|CLASP1_ENST00000541377.1_Missense_Mutation_p.I188T|CLASP1_ENST00000409078.3_Missense_Mutation_p.I188T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	188					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.I188T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TAAGCTGTTTATTGCTGCATC	0.463																																																1	Substitution - Missense(1)	kidney(1)											122	112	115					2																	122273322		1916	4126	6042	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.563T>C	2.37:g.122273322A>G	ENSP00000263710:p.Ile188Thr		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	A	17.30	3.355815	0.61293	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000409078	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.156965	0.56097	D	0.000036	T	0.29914	0.0748	N	0.16656	0.425	0.80722	D	1	P;B;P;P	0.40731	0.491;0.435;0.642;0.728	B;B;B;B	0.37731	0.138;0.085;0.138;0.257	T	0.19811	-1.0294	10	0.66056	D	0.02	-12.9134	14.8943	0.70633	1.0:0.0:0.0:0.0	.	188;188;188;188	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	T	188	ENSP00000263710:I188T;ENSP00000389372:I188T;ENSP00000380717:I188T;ENSP00000441625:I188T;ENSP00000386442:I188T	ENSP00000263710:I188T	I	-	2	0	CLASP1	121989792	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.898000	0.87363	2.210000	0.71456	0.533000	0.62120	ATA		0.463	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		G	122273322	A	G	122273322	3	3	378	1	0	0	0	0	1	0	0	0	3456	449	16	3	4241	3	CLASP1	2	122273322	Missense_Mutation	SNP	A	TCGA-BP-4962-01A-01D-1462-08		122273322	120926051	3	20922											
TANC1	85461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160035470	160035470	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr2:160035470C>G	ENST00000263635.6	+	14	2543	c.2306C>G	c.(2305-2307)aCa>aGa	p.T769R	TANC1_ENST00000454300.1_Missense_Mutation_p.T663R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	769					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.T769R(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CACCCCATGACAGACGAGCAG	0.552																																																1	Substitution - Missense(1)	kidney(1)											170	174	173					2																	160035470		1998	4156	6154	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2306C>G	2.37:g.160035470C>G	ENSP00000263635:p.Thr769Arg		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	c	26.8	4.773993	0.90108	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72942	-0.68;-0.7	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83963	0.5368	M	0.66506	2.035	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.931	D;D;P	0.87578	0.996;0.998;0.688	D	0.83363	0.0003	10	0.54805	T	0.06	.	20.123	0.97969	0.0:1.0:0.0:0.0	.	761;663;769	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	R	663;769	ENSP00000396339:T663R;ENSP00000263635:T769R	ENSP00000263635:T769R	T	+	2	0	TANC1	159743716	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	7.815000	0.86186	2.776000	0.95493	0.651000	0.88453	ACA		0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			G	160035470	C	G	160035470	3	3	378	1	0	0	0	0	1	0	0	0	15549	478	17	4	2352	4	TANC1	2	160035470	Missense_Mutation	SNP	C	TCGA-BP-4962-01A-01D-1462-08	37762148	160035470	83163903	4	20923											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179452123	179452123	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr2:179452123T>C	ENST00000591111.1	-	257	59116	c.58892A>G	c.(58891-58893)gAt>gGt	p.D19631G	TTN_ENST00000589042.1_Missense_Mutation_p.D21272G|TTN_ENST00000342992.6_Missense_Mutation_p.D18704G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D12399G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D12207G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12332G|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19631	Fibronectin type-III 42. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D12332G(1)|p.D12207G(1)|p.D18702G(1)|p.D12399G(1)|p.D18704G(1)		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)			AACTTTTAAATCAGACACAGG	0.428																																																5	Substitution - Missense(5)	kidney(5)											43	38	40					2																	179452123		1869	4094	5963	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58892A>G	2.37:g.179452123T>C	ENSP00000465570:p.Asp19631Gly		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	14.76	2.632379	0.46944	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39835	0.1093	N	0.13098	0.295	0.42587	D	0.993236	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.26360	-1.0105	9	0.87932	D	0	.	16.4781	0.84144	0.0:0.0:0.0:1.0	.	12207;12332;12399;19631	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	18704;12207;12399;12332;12205	ENSP00000343764:D18704G;ENSP00000434586:D12207G;ENSP00000340554:D12399G;ENSP00000352154:D12332G	ENSP00000340554:D12399G	D	-	2	0	TTN	179160369	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	3.090000	0.50191	2.288000	0.76882	0.528000	0.53228	GAT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179452123	T	C	179452123	3	2	378	1	0	0	0	0	1	0	0	0	16740	1435	50	3	44388	3	TTN	2	179452123	Missense_Mutation	SNP	T	TCGA-BP-4962-01A-01D-1462-08	19416653	179452123	63747250	5	20924											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443892	52443892	+	5'Flank	SNP	C	C	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr3:52443892C>T	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Start_Codon_SNP_p.M1I|BAP1_ENST00000296288.5_Start_Codon_SNP_p.M1I	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.M1I(2)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGCCCTTATTCATCTTCCCGC	0.766																																																2	Substitution - Missense(2)	kidney(2)											25	31	29					3																	52443892		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443892C>T	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044029	0.93685	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.41758	0.99;0.99	5.06	5.06	0.68205	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	.	.	.	0.80722	D	1	P	0.34699	0.464	B	0.37692	0.256	T	0.47898	-0.9081	9	0.72032	D	0.01	-3.8616	16.2289	0.82318	0.0:1.0:0.0:0.0	.	1	Q92560	BAP1_HUMAN	I	1	ENSP00000417132:M1I;ENSP00000296288:M1I	ENSP00000296288:M1I	M	-	3	0	BAP1	52418932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.256000	0.72473	2.359000	0.80004	0.655000	0.94253	ATG		0.766	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		T	52443892	C	T	52443892	1	4	378	0	1	0	0	0	0	0	0	0	1311	826	29	2		2	BAP1	3	52443892	5'Flank	SNP	C	TCGA-BP-4962-01A-01D-1462-08		52443892	145578538	6	20925											
CHRD	8646	broad.mit.edu;ucsc.edu	37	3	184103856	184103856	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr3:184103856T>G	ENST00000204604.1	+	15	2087	c.1841T>G	c.(1840-1842)cTg>cGg	p.L614R	CHRD_ENST00000545352.1_Missense_Mutation_p.L244R|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.L574R|CHRD_ENST00000450923.1_Missense_Mutation_p.L614R	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	614	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.L327R(1)|p.L614R(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGAAGGACCTGGAGCCGGAA	0.587																																																2	Substitution - Missense(2)	kidney(2)											95	97	97					3																	184103856		2203	4300	6503	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1841T>G	3.37:g.184103856T>G	ENSP00000204604:p.Leu614Arg		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181966	0.78677	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.51	4.51	0.55191	CHRD (3);	0.073207	0.53938	D	0.000047	T	0.72455	0.3462	M	0.80616	2.505	0.45272	D	0.998279	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.996;0.998;0.997	T	0.77156	-0.2691	10	0.87932	D	0	-13.0207	13.0012	0.58676	0.0:0.0:0.0:1.0	.	244;574;614;614	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	R	614;614;574;244;327	ENSP00000204604:L614R;ENSP00000408972:L614R;ENSP00000334036:L574R;ENSP00000442948:L244R	ENSP00000204604:L614R	L	+	2	0	CHRD	185586550	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.133000	0.77259	1.823000	0.53134	0.533000	0.62120	CTG		0.587	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		G	184103856	T	G	184103856	3	3	378	1	0	0	0	0	1	0	0	0	3374	1580	55	5	1899	5	CHRD	3	184103856	Missense_Mutation	SNP	T	TCGA-BP-4962-01A-01D-1462-08	131659964	184103856	13918574	7	20926											
MFI2	4241	broad.mit.edu	37	3	196733606	196733606	+	Splice_Site	SNP	G	G	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr3:196733606G>T	ENST00000296350.5	-	14	1865	c.1752C>A	c.(1750-1752)ggC>ggA	p.G584G	MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	584	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.G584G(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGGAATTGTGGCCTGAGGGGG	0.612																																																1	Substitution - coding silent(1)	kidney(1)											23	22	23					3																	196733606		2203	4300	6503	SO:0001630	splice_region_variant	4241				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1751-1C>A	3.37:g.196733606G>T			Q9BQE2	Silent	SNP	ENST00000296350.5	37	CCDS3325.1																																																																																				0.612	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1		Silent	T	196733606	G	T	196733606	5	4	378	1	0	0	0	0	0	0	1	0	9524	1217	42	4	476	4	MFI2	3	196733606	Splice_Site	SNP	G	TCGA-BP-4962-01A-01D-1462-08	12629750	196733606	1288824	8	20927											
SPEF2	79925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	35771808	35771808	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr5:35771808A>C	ENST00000356031.3	+	27	4053	c.3899A>C	c.(3898-3900)aAa>aCa	p.K1300T	SPEF2_ENST00000440995.2_Missense_Mutation_p.K1295T|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1300					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.K1300T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCAAATAAAAAAGTCAAAAAG	0.423																																																1	Substitution - Missense(1)	kidney(1)											49	52	51					5																	35771808		1806	4066	5872	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3899A>C	5.37:g.35771808A>C	ENSP00000348314:p.Lys1300Thr		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	8.335	0.827358	0.16749	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.07800	3.16;3.26	5.68	4.38	0.52667	.	0.422689	0.28724	N	0.014348	T	0.16981	0.0408	M	0.69823	2.125	0.80722	D	1	D;P	0.61697	0.99;0.689	P;B	0.56865	0.808;0.286	T	0.01130	-1.1442	10	0.34782	T	0.22	.	4.9844	0.14182	0.7825:0.0:0.2175:0.0	.	1295;1300	Q9C093-2;Q9C093	.;SPEF2_HUMAN	T	1300;1295	ENSP00000348314:K1300T;ENSP00000412125:K1295T	ENSP00000348314:K1300T	K	+	2	0	SPEF2	35807565	0.160000	0.22878	0.264000	0.24511	0.036000	0.12997	1.814000	0.38972	2.296000	0.77279	0.482000	0.46254	AAA		0.423	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		C	35771808	A	C	35771808	3	2	378	1	0	0	0	0	1	0	0	0	15040	14	1	5	4026	5	SPEF2	5	35771808	Missense_Mutation	SNP	A	TCGA-BP-4962-01A-01D-1462-08		35771808	145143452	9	20928											
SPINK5	11005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	147481422	147481423	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr5:147481422_147481423CC>AA	ENST00000256084.7	+	15	1423_1424	c.1381_1382CC>AA	c.(1381-1383)CCa>AAa	p.P461K	SPINK5_ENST00000359874.3_Missense_Mutation_p.P461K|SPINK5_ENST00000398454.1_Missense_Mutation_p.P461K	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	461	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P461T(2)|p.P461>?(2)|p.P461Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCAGGGCCCAGATGGAAAA	0.5																																																6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	Exception_encountered	5.37:g.147481422_147481423delinsAA	ENSP00000256084:p.Pro461Lys		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1																																																																																				0.5	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		AA	147481423	CC	AA	147481422	3	1	378	1	0	0	0	0	1	0	0	0	15067	623	22	4	1439	4	SPINK5	5	147481422	Missense_Mutation	DNP	CC	TCGA-BP-4962-01A-01D-1462-08	111709614	147481422	33433838	10	20929											
NIPAL4	348938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156899742	156899742	+	Missense_Mutation	SNP	C	C	T	rs199652326		TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr5:156899742C>T	ENST00000311946.7	+	6	1291	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.S373L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	392						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.S330L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GGCACCCTCTCGGGCTTTGTC	0.537																																																1	Substitution - Missense(1)	kidney(1)											87	83	85					5																	156899742		2116	4246	6362	SO:0001583	missense	348938			AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"ichthyin"	609383	"NIPA-like 4"			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1175C>T	5.37:g.156899742C>T	ENSP00000311687:p.Ser392Leu		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822062	0.32237	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90197	-2.63;-2.63	5.93	5.93	0.95920	.	0.256467	0.44483	D	0.000450	D	0.85305	0.5666	L	0.38838	1.175	0.43698	D	0.996151	P;P	0.42248	0.733;0.774	B;B	0.35655	0.131;0.207	D	0.85907	0.1438	10	0.48119	T	0.1	-34.9928	14.6991	0.69145	0.0:0.7453:0.2547:0.0	.	373;392	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	L	373;392	ENSP00000406456:S373L;ENSP00000311687:S392L	ENSP00000311687:S392L	S	+	2	0	NIPAL4	156832320	0.998000	0.40836	0.128000	0.21923	0.648000	0.38561	6.635000	0.74295	2.815000	0.96918	0.561000	0.74099	TCG		0.537	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		T	156899742	C	T	156899742	3	4	378	1	0	0	0	0	1	0	0	0	10429	893	31	1	1197	1	NIPAL4	5	156899742	Missense_Mutation	SNP	C	TCGA-BP-4962-01A-01D-1462-08	9418320	156899742	24015518	11	20930											
ABCA13	154664	broad.mit.edu;ucsc.edu	37	7	48411895	48411895	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr7:48411895G>A	ENST00000435803.1	+	33	10958	c.10934G>A	c.(10933-10935)aGc>aAc	p.S3645N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3645					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S3590N(1)|p.S3645N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGCACACAGCAATACCTTT	0.458																																																2	Substitution - Missense(2)	kidney(2)											278	273	274					7																	48411895		2050	4208	6258	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10934G>A	7.37:g.48411895G>A	ENSP00000411096:p.Ser3645Asn		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449660	0.84101	.	.	ENSG00000179869	ENST00000435803	D	0.94966	-3.57	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000008	D	0.97958	0.9328	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98346	1.0541	10	0.87932	D	0	.	19.335	0.94312	0.0:0.0:1.0:0.0	.	1347;3645	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	N	3645	ENSP00000411096:S3645N	ENSP00000411096:S3645N	S	+	2	0	ABCA13	48382441	1.000000	0.71417	0.973000	0.42090	0.635000	0.38103	6.595000	0.74109	2.884000	0.98904	0.655000	0.94253	AGC		0.458	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48411895	G	A	48411895	3	1	378	1	0	0	0	0	1	0	0	0	31	971	34	2	10893	2	ABCA13	7	48411895	Missense_Mutation	SNP	G	TCGA-BP-4962-01A-01D-1462-08		48411895	110726768	12	20931											
SEMA3A	10371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	83590955	83590955	+	Missense_Mutation	SNP	C	C	T	rs199821305		TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr7:83590955C>T	ENST00000265362.4	-	17	2362	c.2048G>A	c.(2047-2049)gGa>gAa	p.G683E	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G683E	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	683					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.G683E(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGAGCCATCTCCATCATCATC	0.443																																																1	Substitution - Missense(1)	kidney(1)											196	176	183					7																	83590955		2203	4300	6503	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2048G>A	7.37:g.83590955C>T	ENSP00000265362:p.Gly683Glu			Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	4.108	0.018248	0.07959	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.25912	1.77;1.77	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.15912	0.0383	N	0.12887	0.27	0.54753	D	0.999986	B	0.06786	0.001	B	0.06405	0.002	T	0.13308	-1.0514	10	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	683	Q14563	SEM3A_HUMAN	E	683	ENSP00000265362:G683E;ENSP00000415260:G683E	ENSP00000265362:G683E	G	-	2	0	SEMA3A	83428891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.540000	0.67205	2.941000	0.99782	0.655000	0.94253	GGA		0.443	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		T	83590955	C	T	83590955	3	4	378	1	0	0	0	0	1	0	0	0	14030	855	30	2	271	2	SEMA3A	7	83590955	Missense_Mutation	SNP	C	TCGA-BP-4962-01A-01D-1462-08	35179060	83590955	75547708	13	20932											
SMARCA2	6595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2056787	2056787	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr9:2056787A>T	ENST00000382203.1	+	7	1498	c.1289A>T	c.(1288-1290)gAg>gTg	p.E430V	SMARCA2_ENST00000349721.2_Missense_Mutation_p.E430V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E430V|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E430V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	430					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.E430V(1)|p.E426V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGCATGACCGAGAAGCTGGAG	0.567																																																2	Substitution - Missense(2)	kidney(2)											79	75	77					9																	2056787		2203	4300	6503	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1289A>T	9.37:g.2056787A>T	ENSP00000371638:p.Glu430Val		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843899	0.91197	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.65312	0.2679	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.981	D;D;D	0.91635	0.999;0.991;0.966	T	0.75722	-0.3218	10	0.72032	D	0.01	-31.5341	14.3162	0.66452	1.0:0.0:0.0:0.0	.	31;430;430	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	V	430	ENSP00000265773:E430V;ENSP00000349788:E430V;ENSP00000392081:E430V;ENSP00000371638:E430V;ENSP00000371629:E430V	ENSP00000265773:E430V	E	+	2	0	SMARCA2	2046787	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	9.305000	0.96197	1.858000	0.53909	0.533000	0.62120	GAG		0.567	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		T	2056787	A	T	2056787	3	4	378	1	0	0	0	0	1	0	0	0	14775	304	11	5	1311	5	SMARCA2	9	2056787	Missense_Mutation	SNP	A	TCGA-BP-4962-01A-01D-1462-08		2056787	139156644	14	20933											
DBH	1621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136505100	136505100	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr9:136505100G>A	ENST00000393056.2	+	2	484	c.472G>A	c.(472-474)Gat>Aat	p.D158N		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	158	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.D158N(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CGACCCCAAGGATTACCTCAT	0.592																																																1	Substitution - Missense(1)	kidney(1)											51	46	48					9																	136505100		2203	4300	6503	SO:0001583	missense	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.472G>A	9.37:g.136505100G>A	ENSP00000376776:p.Asp158Asn		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020337	0.93462	.	.	ENSG00000123454	ENST00000393056	D	0.82433	-1.61	4.89	4.89	0.63831	DOMON domain (3);	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	M	0.92122	3.275	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	D	0.94688	0.7871	10	0.72032	D	0.01	-14.1206	17.6356	0.88121	0.0:0.0:1.0:0.0	.	158	P09172	DOPO_HUMAN	N	158	ENSP00000376776:D158N	ENSP00000376776:D158N	D	+	1	0	DBH	135494921	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	9.196000	0.94978	2.246000	0.74042	0.561000	0.74099	GAT		0.592	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		A	136505100	G	A	136505100	3	1	378	1	0	0	0	0	1	0	0	0	4252	1174	41	2	478	2	DBH	9	136505100	Missense_Mutation	SNP	G	TCGA-BP-4962-01A-01D-1462-08	134448313	136505100	4708331	15	20934											
CCDC88B	283234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64108611	64108611	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr11:64108611C>T	ENST00000356786.5	+	4	393	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	117						membrane (GO:0016020)		p.P117S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGTCGCCACCCCCAGACCT	0.647																																																1	Substitution - Missense(1)	kidney(1)											87	81	83					11																	64108611		2201	4297	6498	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.349C>T	11.37:g.64108611C>T	ENSP00000349238:p.Pro117Ser		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	11.75	1.731187	0.30684	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.41065	1.01	3.95	3.03	0.35002	.	.	.	.	.	T	0.23846	0.0577	N	0.12746	0.255	0.80722	D	1	B;B	0.14805	0.011;0.011	B;B	0.15484	0.013;0.013	T	0.06463	-1.0825	9	0.62326	D	0.03	.	7.8099	0.29226	0.0:0.8837:0.0:0.1163	.	117;117	B2RTU8;A6NC98	.;CC88B_HUMAN	S	117	ENSP00000349238:P117S	ENSP00000349238:P117S	P	+	1	0	CCDC88B	63865187	0.990000	0.36364	0.998000	0.56505	0.824000	0.46624	2.057000	0.41365	1.029000	0.39812	0.485000	0.47835	CCC		0.647	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		T	64108611	C	T	64108611	3	4	378	1	0	0	0	0	1	0	0	0	2866	507	18	2	363	2	CCDC88B	11	64108611	Missense_Mutation	SNP	C	TCGA-BP-4962-01A-01D-1462-08		64108611	70897905	16	20935											
FAM55B	120406	broad.mit.edu;ucsc.edu	37	11	114569272	114569272	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr11:114569272G>A	ENST00000389586.4	+	3	828	c.638G>A	c.(637-639)aGg>aAg	p.R213K	NXPE2_ENST00000375475.5_Missense_Mutation_p.R213K	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	213						integral component of membrane (GO:0016021)		p.R213K(2)									GGATGTGATAGGATCATCTTC	0.517																																																2	Substitution - Missense(2)	kidney(2)											108	106	107					11																	114569272		692	1591	2283	SO:0001583	missense	0			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.638G>A	11.37:g.114569272G>A	ENSP00000374237:p.Arg213Lys		Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	G	2.819	-0.245325	0.05906	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.19669	2.66;2.13	4.55	0.99	0.19807	.	0.372941	0.24176	N	0.040846	T	0.08626	0.0214	N	0.11651	0.15	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.39623	-0.9605	10	0.10636	T	0.68	.	7.4916	0.27464	0.4569:0.0:0.5431:0.0	.	213	Q96DL1	FA55B_HUMAN	K	213	ENSP00000374237:R213K;ENSP00000364624:R213K	ENSP00000364624:R213K	R	+	2	0	FAM55B	114074482	0.008000	0.16893	0.001000	0.08648	0.023000	0.10783	0.287000	0.18920	0.043000	0.15746	-1.094000	0.02160	AGG		0.517	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		A	114569272	G	A	114569272	3	1	378	1	0	0	0	0	1	0	0	0	5587	1000	35	2	648	2	FAM55B	11	114569272	Missense_Mutation	SNP	G	TCGA-BP-4962-01A-01D-1462-08	50460661	114569272	20437244	17	20936	162	2									
FAM55B	120406	broad.mit.edu;ucsc.edu	37	11	114569274	114569274	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr11:114569274A>G	ENST00000389586.4	+	3	830	c.640A>G	c.(640-642)Atc>Gtc	p.I214V	NXPE2_ENST00000375475.5_Missense_Mutation_p.I214V	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	214						integral component of membrane (GO:0016021)		p.I214V(2)									ATGTGATAGGATCATCTTCAC	0.517																																																2	Substitution - Missense(2)	kidney(2)											108	107	107					11																	114569274		692	1591	2283	SO:0001583	missense	0			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.640A>G	11.37:g.114569274A>G	ENSP00000374237:p.Ile214Val		Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.553101	0.00918	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.14893	2.93;2.47	4.45	-0.65	0.11457	.	0.556195	0.15835	N	0.242308	T	0.04497	0.0123	N	0.02142	-0.665	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.41945	-0.9480	10	0.02654	T	1	.	8.2676	0.31824	0.5809:0.0:0.4191:0.0	.	214	Q96DL1	FA55B_HUMAN	V	214	ENSP00000374237:I214V;ENSP00000364624:I214V	ENSP00000364624:I214V	I	+	1	0	FAM55B	114074484	0.090000	0.21635	0.000000	0.03702	0.004000	0.04260	0.290000	0.18975	-0.443000	0.07180	-1.039000	0.02377	ATC		0.517	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		G	114569274	A	G	114569274	3	3	378	1	0	0	0	0	1	0	0	0	5587	333	12	3	650	3	FAM55B	11	114569274	Missense_Mutation	SNP	A	TCGA-BP-4962-01A-01D-1462-08	2	114569274	20437242	18	20937	162	2									
SIDT2	51092	broad.mit.edu;hgsc.bcm.edu	37	11	117052642	117052642	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr11:117052642C>A	ENST00000324225.4	+	3	956	c.425C>A	c.(424-426)aCc>aAc	p.T142N	SIDT2_ENST00000431081.2_Missense_Mutation_p.T142N|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	142					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.T142N(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCAGTCAACACCACATACCAG	0.577																																																1	Substitution - Missense(1)	kidney(1)											84	75	78					11																	117052642		2201	4296	6497	SO:0001583	missense	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.425C>A	11.37:g.117052642C>A	ENSP00000314023:p.Thr142Asn		Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621682	0.66787	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000531353	T;T;T	0.18657	2.22;2.2;2.22	5.14	5.14	0.70334	.	0.055623	0.64402	D	0.000001	T	0.29355	0.0731	L	0.51422	1.61	0.48040	D	0.999572	B;D;P;B	0.53151	0.156;0.958;0.835;0.097	B;P;P;B	0.46543	0.271;0.466;0.52;0.14	T	0.03566	-1.1024	10	0.72032	D	0.01	-33.4603	18.7974	0.92001	0.0:1.0:0.0:0.0	.	142;142;142;142	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	N	142;142;142;41	ENSP00000314023:T142N;ENSP00000278951:T142N;ENSP00000399635:T142N	ENSP00000278951:T142N	T	+	2	0	SIDT2	116557852	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.051000	0.57412	2.676000	0.91093	0.561000	0.74099	ACC		0.577	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		A	117052642	C	A	117052642	3	1	378	1	0	0	0	0	1	0	0	0	14309	507	18	4	435	4	SIDT2	11	117052642	Missense_Mutation	SNP	C	TCGA-BP-4962-01A-01D-1462-08	2483368	117052642	17953874	19	20938											
SOX5	6660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	23818384	23818384	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr12:23818384C>T	ENST00000451604.2	-	7	1026	c.925G>A	c.(925-927)Gga>Aga	p.G309R	SOX5_ENST00000537393.1_Missense_Mutation_p.G274R|SOX5_ENST00000546136.1_Missense_Mutation_p.G296R|SOX5_ENST00000545921.1_Missense_Mutation_p.G299R|SOX5_ENST00000381381.2_Missense_Mutation_p.G296R|SOX5_ENST00000309359.1_Missense_Mutation_p.G296R|SOX5_ENST00000541536.1_Missense_Mutation_p.G296R			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	309					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G309R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTACTACATCCAGCCTTATAG	0.478																																																1	Substitution - Missense(1)	kidney(1)											122	128	126					12																	23818384		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.925G>A	12.37:g.23818384C>T	ENSP00000398273:p.Gly309Arg		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063465	0.93898	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.97378	-4.27;-4.27;-4.36;-4.27;-4.25;-4.36;-4.27	5.28	5.28	0.74379	.	0.393014	0.27478	N	0.019187	D	0.98024	0.9349	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	P;D;D	0.87578	0.9;0.998;0.942	D	0.98638	1.0674	10	0.62326	D	0.03	.	19.0818	0.93186	0.0:1.0:0.0:0.0	.	274;296;309	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	R	296;296;296;309;261;274;296;299	ENSP00000437487:G296R;ENSP00000308927:G296R;ENSP00000370788:G296R;ENSP00000398273:G309R;ENSP00000439832:G274R;ENSP00000441973:G296R;ENSP00000443520:G299R	ENSP00000308927:G296R	G	-	1	0	SOX5	23709651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.601000	0.82783	2.733000	0.93635	0.655000	0.94253	GGA		0.478	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		T	23818384	C	T	23818384	3	4	378	1	0	0	0	0	1	0	0	0	14960	603	21	2	1412	2	SOX5	12	23818384	Missense_Mutation	SNP	C	TCGA-BP-4962-01A-01D-1462-08		23818384	110033511	20	20939											
ARL11	115761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	50204841	50204841	+	Silent	SNP	C	C	T	rs377295532		TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr13:50204841C>T	ENST00000282026.1	+	2	593	c.258C>T	c.(256-258)taC>taT	p.Y86Y	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	86					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.Y86Y(1)		kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TCCTCGTGTACGTGCTGGACA	0.617																																																1	Substitution - coding silent(1)	kidney(1)						C		2,4404	4.2+/-10.8	0,2,2201	85	83	84		258	-7.6	0.4	13		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARL11	NM_138450.5		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		86/197	50204841	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	115761			AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.258C>T	13.37:g.50204841C>T				Silent	SNP	ENST00000282026.1	37	CCDS9419.1																																																																																				0.617	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		T	50204841	C	T	50204841	2	4	378	1	0	0	0	0	0	0	0	1	927	547	19	1		1	ARL11	13	50204841	Silent	SNP	C	TCGA-BP-4962-01A-01D-1462-08		50204841	64965037	21	20940											
MGA	23269	hgsc.bcm.edu;ucsc.edu	37	15	41961876	41961876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr15:41961876delG	ENST00000570161.1	+	1	784	c.784delG	c.(784-786)gggfs	p.G262fs	MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Frame_Shift_Del_p.G262fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.G262fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.G262fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.G262fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCGGGATGATGGGCTGAATAA	0.418																																																0													60	57	58					15																	41961876		1850	4112	5962	SO:0001589	frameshift_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.784delG	15.37:g.41961876delG	ENSP00000457035:p.Gly262fs		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	CCDS55959.1																																																																																				0.418	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		-	41961876	G	-	41961876	7	5	378	1	0	1	0	1	0	0	0	0	9542	1348	47	0	786	0	MGA	15	41961876	Frame_Shift_Del	DEL	G	TCGA-BP-4962-01A-01D-1462-08		41961876	60569516	22	20941											
ACAN	176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89386810	89386810	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr15:89386810G>A	ENST00000561243.1	+	5	982	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	ACAN_ENST00000439576.2_Missense_Mutation_p.V328I|ACAN_ENST00000352105.7_Missense_Mutation_p.V328I|ACAN_ENST00000559004.1_Missense_Mutation_p.V328I|ACAN_ENST00000558207.1_Missense_Mutation_p.V328I			P16112	PGCA_HUMAN	aggrecan	328	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.V328I(4)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGTGAGGACCGTCTACGTGCA	0.682																																																4	Substitution - Missense(4)	lung(2)|kidney(2)											41	46	44					15																	89386810		2069	4192	6261	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.982G>A	15.37:g.89386810G>A	ENSP00000453342:p.Val328Ile		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024285	0.75390	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.08720	3.06;3.06	5.56	5.56	0.83823	.	0.000000	0.30020	N	0.010616	T	0.27731	0.0682	M	0.62088	1.915	0.41044	D	0.985256	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.75020	0.985;0.985;0.929	T	0.00180	-1.1948	10	0.45353	T	0.12	-27.4465	18.5257	0.90971	0.0:0.0:1.0:0.0	.	328;328;328	E7ENV9;E7EX88;Q6PID9	.;.;.	I	328	ENSP00000387356:V328I;ENSP00000341615:V328I	ENSP00000268134:V328I	V	+	1	0	ACAN	87187814	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.377000	0.66184	2.626000	0.88956	0.650000	0.86243	GTC		0.682	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89386810	G	A	89386810	3	1	378	1	0	0	0	0	1	0	0	0	117	1145	40	1	1000	1	ACAN	15	89386810	Missense_Mutation	SNP	G	TCGA-BP-4962-01A-01D-1462-08	47424934	89386810	13144582	23	20942											
SALL1	6299	hgsc.bcm.edu;ucsc.edu	37	16	51172715	51172716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr16:51172715_51172716insA	ENST00000251020.4	-	2	3450_3451	c.3417_3418insT	c.(3415-3420)tgtggcfs	p.G1140fs	SALL1_ENST00000440970.1_Frame_Shift_Ins_p.G1043fs|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1140					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGGTTTTGCCACATGTGTTGC	0.545																																					GBM(103;1352 1446 1855 4775 8890)											0																																										SO:0001589	frameshift_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3418dupT	16.37:g.51172716_51172716dupA	ENSP00000251020:p.Gly1140fs		Q99881|Q9NSC3|Q9P1R0	Frame_Shift_Ins	INS	ENST00000251020.4	37	CCDS10747.1																																																																																				0.545	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		A	51172716	-	A	51172715	7	5	378	1	0	1	1	0	0	0	0	0	13816	594	21	0	564	0	SALL1	16	51172715	Frame_Shift_Ins	INS	-	TCGA-BP-4962-01A-01D-1462-08		51172715	39182038	24	20943											
CMIP	80790	broad.mit.edu	37	16	81712128	81712128	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr16:81712128T>C	ENST00000537098.3	+	10	1355	c.1283T>C	c.(1282-1284)cTc>cCc	p.L428P	CMIP_ENST00000539778.2_Missense_Mutation_p.L334P|CMIP_ENST00000398040.4_Missense_Mutation_p.L275P|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	428						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L333P(1)|p.L428P(1)		endometrium(5)|kidney(1)|lung(7)	13						GAGCCCAACCTCATCGACTGC	0.667																																																2	Substitution - Missense(2)	kidney(2)											10	12	11					16																	81712128		2127	4217	6344	SO:0001583	missense	80790			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1283T>C	16.37:g.81712128T>C	ENSP00000446100:p.Leu428Pro		Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277730	0.80692	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T;T	0.11169	2.8;2.8;3.02	4.92	4.92	0.64577	.	0.071575	0.56097	D	0.000021	T	0.20414	0.0491	N	0.24115	0.695	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.78314	0.991;0.991;0.986	T	0.03130	-1.1069	10	0.87932	D	0	.	14.553	0.68081	0.0:0.0:0.0:1.0	.	275;334;428	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	P	428;334;334;241	ENSP00000446100:L428P;ENSP00000440401:L334P;ENSP00000381120:L334P	ENSP00000381120:L334P	L	+	2	0	CMIP	80269629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.303000	0.78871	1.860000	0.53959	0.459000	0.35465	CTC		0.667	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		C	81712128	T	C	81712128	3	2	378	1	0	0	0	0	1	0	0	0	3580	1551	54	3	1343	3	CMIP	16	81712128	Missense_Mutation	SNP	T	TCGA-BP-4962-01A-01D-1462-08	30539413	81712128	8642625	25	20944											
KIAA0664	23277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	2606746	2606746	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr17:2606746A>T	ENST00000570628.2	-	3	332	c.227T>A	c.(226-228)gTg>gAg	p.V76E	CLUH_ENST00000435359.1_Missense_Mutation_p.V76E|CLUH_ENST00000538975.1_Missense_Mutation_p.V76E			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	76					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.V76E(2)									GTCCATGAGCACCTGGTGAAT	0.657																																																2	Substitution - Missense(2)	kidney(2)											38	46	43					17																	2606746		2132	4222	6354	SO:0001583	missense	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.227T>A	17.37:g.2606746A>T	ENSP00000458986:p.Val76Glu		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.038071	0.93630	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.81659	-1.52;-1.52	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.87253	0.6131	M	0.73962	2.25	0.80722	D	1	D;D	0.61697	0.97;0.99	P;P	0.59761	0.737;0.863	D	0.88496	0.3079	10	0.59425	D	0.04	.	14.1049	0.65083	1.0:0.0:0.0:0.0	.	76;76	O75153;C9J6D7	K0664_HUMAN;.	E	76	ENSP00000388872:V76E;ENSP00000439628:V76E	ENSP00000320468:V76E	V	-	2	0	KIAA0664	2553496	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.297000	0.96120	1.924000	0.55735	0.459000	0.35465	GTG		0.657	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		T	2606746	A	T	2606746	3	4	378	1	0	0	0	0	1	0	0	0	8191	159	6	5	3798	5	KIAA0664	17	2606746	Missense_Mutation	SNP	A	TCGA-BP-4962-01A-01D-1462-08		2606746	78588464	26	20945											
SLC26A11	284129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78199688	78199688	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr17:78199688A>G	ENST00000361193.3	+	6	846	c.566A>G	c.(565-567)cAc>cGc	p.H189R	SLC26A11_ENST00000546047.2_Missense_Mutation_p.H189R|SLC26A11_ENST00000411502.3_Missense_Mutation_p.H189R|SLC26A11_ENST00000572725.1_Missense_Mutation_p.H189R	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11									p.H189R(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGGTGTACCACACCTTCCTC	0.567																																																1	Substitution - Missense(1)	kidney(1)											191	151	164					17																	78199688		2203	4300	6503	SO:0001583	missense	284129				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.566A>G	17.37:g.78199688A>G	ENSP00000355384:p.His189Arg			Missense_Mutation	SNP	ENST00000361193.3	37	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	A	9.331	1.060430	0.19987	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92595	-3.07;-3.07;-3.07	4.09	1.57	0.23409	Sulphate transporter (1);	0.632694	0.16967	N	0.192251	T	0.82089	0.4961	N	0.10685	0.025	0.34266	D	0.680468	B	0.13594	0.008	B	0.24006	0.05	T	0.77000	-0.2750	10	0.39692	T	0.17	-1.4566	9.9291	0.41512	0.6725:0.3275:0.0:0.0	.	189	Q86WA9	S2611_HUMAN	R	189	ENSP00000403998:H189R;ENSP00000440724:H189R;ENSP00000355384:H189R	ENSP00000355384:H189R	H	+	2	0	SLC26A11	75814283	1.000000	0.71417	0.620000	0.29132	0.872000	0.50106	5.011000	0.64011	0.420000	0.25954	0.383000	0.25322	CAC		0.567	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			G	78199688	A	G	78199688	3	3	378	1	0	0	0	0	1	0	0	0	14522	159	6	3	580	3	SLC26A11	17	78199688	Missense_Mutation	SNP	A	TCGA-BP-4962-01A-01D-1462-08	75592942	78199688	2995522	27	20946											
PTPRM	5797	broad.mit.edu	37	18	8253332	8253332	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr18:8253332G>A	ENST00000332175.8	+	17	3672	c.2635G>A	c.(2635-2637)Gcc>Acc	p.A879T	PTPRM_ENST00000400060.4_Missense_Mutation_p.A893T|PTPRM_ENST00000580170.1_Missense_Mutation_p.A892T|PTPRM_ENST00000400053.4_Missense_Mutation_p.A817T|PTPRM_ENST00000444013.1_Missense_Mutation_p.A666T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	879					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A879T(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCTCCACCCCGCCATCCGGGT	0.602																																																1	Substitution - Missense(1)	kidney(1)											41	32	35					18																	8253332		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2635G>A	18.37:g.8253332G>A	ENSP00000331418:p.Ala879Thr		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517846	0.96416	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.53423	0.94;1.01;0.76;0.62	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.79784	0.993;0.95;0.95	T	0.72737	-0.4203	10	0.56958	D	0.05	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	666;892;879	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	879;893;817;666	ENSP00000331418:A879T;ENSP00000382933:A893T;ENSP00000382927:A817T;ENSP00000387608:A666T	ENSP00000331418:A879T	A	+	1	0	PTPRM	8243332	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	9.864000	0.99589	2.873000	0.98535	0.561000	0.74099	GCC		0.602	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			A	8253332	G	A	8253332	3	1	378	1	0	0	0	0	1	0	0	0	12812	1087	38	1	2748	1	PTPRM	18	8253332	Missense_Mutation	SNP	G	TCGA-BP-4962-01A-01D-1462-08		8253332	69823916	28	20947											
FECH	2235	broad.mit.edu;ucsc.edu	37	18	55221616	55221616	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr18:55221616G>T	ENST00000262093.5	-	9	1104	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	FECH_ENST00000382873.3_Missense_Mutation_p.S324Y	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	318					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)	p.S324Y(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				CCCTTTGATAGATTCGTCTGT	0.488																																																1	Substitution - Missense(1)	kidney(1)											163	146	152					18																	55221616		2203	4300	6503	SO:0001583	missense	2235			D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"protoporphyria"	612386	"ferrochelatase (protoporphyria)"			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.953C>A	18.37:g.55221616G>T	ENSP00000262093:p.Ser318Tyr		A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165847	0.78339	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.97016	-4.21;-4.21	6.17	5.29	0.74685	.	0.510935	0.24424	N	0.038660	D	0.95787	0.8629	L	0.31578	0.945	0.31705	N	0.640248	D;D	0.65815	0.995;0.994	P;P	0.55508	0.777;0.768	D	0.95888	0.8904	10	0.87932	D	0	-5.5402	17.1601	0.86802	0.0:0.1265:0.8735:0.0	.	318;324	P22830;P22830-2	HEMH_HUMAN;.	Y	318;324	ENSP00000262093:S318Y;ENSP00000372326:S324Y	ENSP00000262093:S318Y	S	-	2	0	FECH	53372614	0.998000	0.40836	0.148000	0.22405	0.905000	0.53344	5.797000	0.69087	1.593000	0.50029	0.655000	0.94253	TCT		0.488	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			T	55221616	G	T	55221616	3	4	378	1	0	0	0	0	1	0	0	0	5810	942	33	4	330	4	FECH	18	55221616	Missense_Mutation	SNP	G	TCGA-BP-4962-01A-01D-1462-08	46968284	55221616	22855632	29	20948											
ECSIT	51295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11618611	11618611	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr19:11618611G>T	ENST00000270517.7	-	6	986	c.851C>A	c.(850-852)cCt>cAt	p.P284H	ECSIT_ENST00000252440.7_Intron|ECSIT_ENST00000417981.2_Missense_Mutation_p.P70H|ECSIT_ENST00000592312.1_Missense_Mutation_p.L215M|ECSIT_ENST00000591104.1_Intron|CTC-398G3.6_ENST00000585656.1_5'Flank|ZNF653_ENST00000293771.5_5'Flank|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000588998.1_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	284					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P284H(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AACAAAGACAGGCCGGGCTGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											40	41	41					19																	11618611		2203	4300	6503	SO:0001583	missense	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.851C>A	19.37:g.11618611G>T	ENSP00000270517:p.Pro284His		E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143322	0.57044	.	.	ENSG00000130159	ENST00000270517;ENST00000417981	T;T	0.50548	0.74;0.74	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	M	0.80982	2.52	0.35482	D	0.798243	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81424	-0.0939	10	0.87932	D	0	-10.259	16.7205	0.85409	0.0:0.0:1.0:0.0	.	70;284	E9PAN9;Q9BQ95	.;ECSIT_HUMAN	H	284;70	ENSP00000270517:P284H;ENSP00000412712:P70H	ENSP00000270517:P284H	P	-	2	0	ECSIT	11479611	1.000000	0.71417	0.775000	0.31657	0.043000	0.13939	9.129000	0.94430	2.216000	0.71823	0.491000	0.48974	CCT		0.627	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		T	11618611	G	T	11618611	3	4	378	1	0	0	0	0	1	0	0	0	4902	1000	35	4	456	4	ECSIT	19	11618611	Missense_Mutation	SNP	G	TCGA-BP-4962-01A-01D-1462-08		11618611	47510372	30	20949											
ERCC1	2067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45923622	45923622	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr19:45923622C>T	ENST00000300853.3	-	4	976	c.385G>A	c.(385-387)Gac>Aac	p.D129N	ERCC1_ENST00000423698.2_Missense_Mutation_p.D57N|ERCC1_ENST00000013807.5_Missense_Mutation_p.D129N|ERCC1_ENST00000591636.1_Missense_Mutation_p.D129N|ERCC1_ENST00000340192.7_Missense_Mutation_p.D129N|ERCC1_ENST00000589165.1_Missense_Mutation_p.D129N	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	129					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)	p.D129N(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AGCACATAGTCGGGAATTACG	0.617								Nucleotide excision repair (NER)																																								2	Substitution - Missense(2)	kidney(2)											103	79	87					19																	45923622		2203	4300	6503	SO:0001583	missense	2067				CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.385G>A	19.37:g.45923622C>T	ENSP00000300853:p.Asp129Asn		B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014325	0.93404	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807	D;D;T;D	0.90676	-2.48;-2.71;-0.93;-2.71	5.28	5.28	0.74379	Restriction endonuclease, type II-like (1);	0.000000	0.85682	D	0.000000	D	0.96343	0.8807	H	0.94462	3.54	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.998;0.999	D;P;D;P	0.69479	0.964;0.752;0.916;0.892	D	0.97131	0.9818	10	0.72032	D	0.01	-21.144	14.4	0.67037	0.0:1.0:0.0:0.0	.	129;57;129;129	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	N	129;129;57;129	ENSP00000300853:D129N;ENSP00000345203:D129N;ENSP00000394875:D57N;ENSP00000013807:D129N	ENSP00000013807:D129N	D	-	1	0	ERCC1	50615462	1.000000	0.71417	0.944000	0.38274	0.548000	0.35241	6.491000	0.73649	2.489000	0.83994	0.455000	0.32223	GAC		0.617	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		T	45923622	C	T	45923622	3	4	378	1	0	0	0	0	1	0	0	0	5214	884	31	1	665	1	ERCC1	19	45923622	Missense_Mutation	SNP	C	TCGA-BP-4962-01A-01D-1462-08	34305011	45923622	13205361	31	20950											
GRIK1	2897	broad.mit.edu;hgsc.bcm.edu	37	21	31023608	31023608	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr21:31023608A>T	ENST00000399907.1	-	6	1195	c.784T>A	c.(784-786)Tta>Ata	p.L262I	GRIK1_ENST00000399909.1_Missense_Mutation_p.L262I|GRIK1_ENST00000535441.1_Missense_Mutation_p.L262I|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Missense_Mutation_p.L262I|GRIK1_ENST00000399913.1_Missense_Mutation_p.L262I|GRIK1_ENST00000309434.7_Missense_Mutation_p.L262I|GRIK1_ENST00000399914.1_Missense_Mutation_p.L262I|GRIK1_ENST00000389124.2_Missense_Mutation_p.L262I|GRIK1_ENST00000389125.3_Missense_Mutation_p.L262I	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	262					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.L262I(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AAAGCAAATAAGTCCTGCATA	0.353																																																2	Substitution - Missense(2)	kidney(2)											54	47	49					21																	31023608		2203	4300	6503	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.784T>A	21.37:g.31023608A>T	ENSP00000382791:p.Leu262Ile		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.086588	0.36855	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	4.96	2.59	0.31030	Extracellular ligand-binding receptor (1);	0.072152	0.56097	D	0.000026	D	0.85379	0.5683	M	0.62088	1.915	0.51767	D	0.999937	B;B;B;B;B;B	0.32010	0.291;0.291;0.351;0.291;0.187;0.278	P;P;B;P;P;P	0.49387	0.609;0.609;0.268;0.609;0.486;0.474	T	0.80448	-0.1378	10	0.37606	T	0.19	.	8.7164	0.34414	0.7727:0.0:0.2273:0.0	.	262;262;262;262;262;262	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	I	262;262;262;262;262;206;262;262;262;262	ENSP00000327687:L262I;ENSP00000373777:L262I;ENSP00000382797:L262I;ENSP00000382798:L262I;ENSP00000446326:L262I;ENSP00000373776:L262I;ENSP00000382791:L262I;ENSP00000382793:L262I;ENSP00000311646:L262I	ENSP00000311646:L262I	L	-	1	2	GRIK1	29945479	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	1.789000	0.38724	0.458000	0.26988	-0.899000	0.02877	TTA		0.353	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			T	31023608	A	T	31023608	3	4	378	1	0	0	0	0	1	0	0	0	6775	69	3	5	2180	5	GRIK1	21	31023608	Missense_Mutation	SNP	A	TCGA-BP-4962-01A-01D-1462-08		31023608	17106287	32	20951											
SYNJ1	8867	broad.mit.edu;ucsc.edu	37	21	34011316	34011316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr21:34011316G>A	ENST00000322229.7	-	30	3816	c.3817C>T	c.(3817-3819)Cag>Tag	p.Q1273*	SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.Q1257*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.Q1226*|SYNJ1_ENST00000382499.2_Nonsense_Mutation_p.Q1312*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.Q1312*			O43426	SYNJ1_HUMAN	synaptojanin 1	1273	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.Q1273*(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGGCCAGACTGAGGCATAGGT	0.567																																																1	Substitution - Nonsense(1)	kidney(1)											151	161	157					21																	34011316		2203	4300	6503	SO:0001587	stop_gained	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3817C>T	21.37:g.34011316G>A	ENSP00000322234:p.Gln1273*		O43425|O94984|Q4KMR1	Nonsense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.669243|7.669243	0.98422|0.98422	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229|ENST00000438952	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.632230|.	0.17166|.	N|.	0.184459|.	.|T	.|0.75095	.|0.3803	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73933	.|-0.3826	.|3	0.06236|.	T|.	0.91|.	.|.	18.9629|18.9629	0.92684|0.92684	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1226;1257;1312;1312;1273|148	.|.	ENSP00000322234:Q1273X|.	Q|S	-|-	1|2	0|0	SYNJ1|SYNJ1	32933187|32933187	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.752000|0.752000	0.42762|0.42762	5.074000|5.074000	0.64401|0.64401	2.543000|2.543000	0.85770|0.85770	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.567	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	34011316	G	A	34011316	4	1	378	1	0	0	0	0	0	1	0	0	15457	1299	45	2	937	2	SYNJ1	21	34011316	Nonsense_Mutation	SNP	G	TCGA-BP-4962-01A-01D-1462-08	2987708	34011316	14118579	33	20952											
NONO	4841	broad.mit.edu;hgsc.bcm.edu	37	X	70511743	70511743	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chrX:70511743T>G	ENST00000276079.8	+	4	474	c.269T>G	c.(268-270)aTg>aGg	p.M90R	NONO_ENST00000373856.3_Missense_Mutation_p.M90R|NONO_ENST00000373841.1_Missense_Mutation_p.M90R|NONO_ENST00000535149.1_Start_Codon_SNP_p.M1R	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	90	DBHS.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M90R(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GAGGAAGAAATGAGGAAACTA	0.423			T	TFE3	papillary renal cancer																																		Dom	yes		X	Xq13.1	4841	"non-POU domain containing, octamer-binding"		E	1	Substitution - Missense(1)	kidney(1)											91	87	88					X																	70511743		2203	4297	6500	SO:0001583	missense	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.269T>G	X.37:g.70511743T>G	ENSP00000276079:p.Met90Arg		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	22.8|22.8	4.340075|4.340075	0.81911|0.81911	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000420903;ENST00000413858;ENST00000454976|ENST00000418921	T;T;T;T;T;T;T|.	0.19394|.	2.15;2.36;2.36;2.36;2.36;2.36;2.36|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.087497|.	0.85682|.	D|.	0.000000|.	T|.	0.60869|.	0.2302|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P|.	0.45531|.	0.86|.	P|.	0.50162|.	0.633|.	T|.	0.58808|.	-0.7571|.	10|.	0.87932|.	D|.	0|.	-10.613|-10.613	13.8804|13.8804	0.63678|0.63678	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	90|.	Q15233|.	NONO_HUMAN|.	R|G	1;90;90;90;90;90;90|9	ENSP00000441364:M1R;ENSP00000276079:M90R;ENSP00000362963:M90R;ENSP00000362947:M90R;ENSP00000410299:M90R;ENSP00000413350:M90R;ENSP00000406673:M90R|.	ENSP00000276079:M90R|.	M|X	+|+	2|1	0|0	NONO|NONO	70428468|70428468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.819000|7.819000	0.86621|0.86621	1.852000|1.852000	0.53769|0.53769	0.430000|0.430000	0.28490|0.28490	ATG|TGA		0.423	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		G	70511743	T	G	70511743	3	3	378	1	0	0	0	0	1	0	0	0	10536	1464	51	5	275	5	NONO	23	70511743	Missense_Mutation	SNP	T	TCGA-BP-4962-01A-01D-1462-08		70511743	84758817	34	20953											
MMEL1	79258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	2541226	2541226	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:2541226C>T	ENST00000378412.3	-	5	498	c.337G>A	c.(337-339)Gac>Aac	p.D113N	MMEL1_ENST00000288709.6_Missense_Mutation_p.D104N|MMEL1_ENST00000502556.1_Missense_Mutation_p.D113N			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	113						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D104N(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TAGAAGTCGTCACACGGTTCC	0.602																																																1	Substitution - Missense(1)	kidney(1)											103	80	88					1																	2541226		2203	4300	6503	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.337G>A	1.37:g.2541226C>T	ENSP00000367668:p.Asp113Asn		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	c	4.214	0.038563	0.08148	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.84660	-1.88;-1.88;-1.88	5.29	-1.66	0.08265	Peptidase M13 (1);	0.959855	0.08812	N	0.890103	T	0.80281	0.4594	L	0.59436	1.845	0.09310	N	1	B	0.12630	0.006	B	0.21151	0.033	T	0.65738	-0.6095	10	0.39692	T	0.17	-14.3225	7.6466	0.28323	0.0:0.3692:0.1689:0.4619	.	113	Q495T6	MMEL1_HUMAN	N	113;104;113;113	ENSP00000288709:D104N;ENSP00000367668:D113N;ENSP00000422492:D113N	ENSP00000288709:D104N	D	-	1	0	MMEL1	2531086	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.315000	0.08081	-0.231000	0.09825	-2.110000	0.00354	GAC		0.602	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		T	2541226	C	T	2541226	3	4	379	1	0	0	0	0	1	0	0	0	9648	826	29	2	2082	2	MMEL1	1	2541226	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08		2541226	246709395	1	20954											
UBXN11	91544	broad.mit.edu	37	1	26623424	26623424	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:26623424C>G	ENST00000374222.1	-	8	882	c.418G>C	c.(418-420)Gtc>Ctc	p.V140L	UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374223.1_5'UTR|UBXN11_ENST00000374217.2_Missense_Mutation_p.V107L|UBXN11_ENST00000357089.4_Missense_Mutation_p.V107L|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374221.3_Missense_Mutation_p.V140L|UBXN11_ENST00000436301.2_Missense_Mutation_p.V65L			Q5T124	UBX11_HUMAN	UBX domain protein 11	140						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V140L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ATCTCCCTGACCTGCCGCTGC	0.662																																																1	Substitution - Missense(1)	kidney(1)											32	38	36					1																	26623424		2062	4218	6280	SO:0001583	missense	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.418G>C	1.37:g.26623424C>G	ENSP00000363339:p.Val140Leu		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783615	0.49891	.	.	ENSG00000158062	ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217;ENST00000389235;ENST00000436301;ENST00000374215;ENST00000452980;ENST00000442942;ENST00000450041;ENST00000423664;ENST00000421827	T;T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.42	2.46	0.29980	.	0.434721	0.24470	N	0.038253	T	0.40839	0.1133	L	0.56769	1.78	0.46798	D	0.9992	B;P;P;P	0.46277	0.451;0.875;0.587;0.595	B;B;B;B	0.40825	0.086;0.341;0.146;0.123	T	0.34900	-0.9810	10	0.72032	D	0.01	-15.355	7.3061	0.26449	0.0:0.7269:0.0:0.2731	.	65;107;102;140	B7Z3N8;Q5T124-2;Q5T124-4;Q5T124	.;.;.;UBX11_HUMAN	L	107;140;140;107;107;65;102;107;107;65;102;140	ENSP00000349601:V107L;ENSP00000363338:V140L;ENSP00000363339:V140L;ENSP00000363334:V107L;ENSP00000393858:V65L;ENSP00000363332:V102L;ENSP00000410357:V107L;ENSP00000404956:V107L;ENSP00000413448:V65L;ENSP00000394036:V102L	ENSP00000349601:V107L	V	-	1	0	UBXN11	26496011	0.994000	0.37717	0.799000	0.32177	0.982000	0.71751	0.601000	0.24119	0.738000	0.32606	0.655000	0.94253	GTC		0.662	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		G	26623424	C	G	26623424	3	3	379	1	0	0	0	0	1	0	0	0	16918	507	18	4	1180	4	UBXN11	1	26623424	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08	24082198	26623424	222627197	2	20955											
CC2D1B	200014	hgsc.bcm.edu	37	1	52824974	52824975	+	Frame_Shift_Ins	INS	-	-	G	rs139316013		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:52824974_52824975insG	ENST00000371586.2	-	10	1211_1212	c.1073_1074insC	c.(1072-1074)ccafs	p.P358fs	CC2D1B_ENST00000284376.3_Frame_Shift_Ins_p.P358fs|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	358						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCTCCACGGCTGGGGGAATGAC	0.658																																																0																																										SO:0001589	frameshift_variant	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1074dupC	1.37:g.52824979_52824979dupG	ENSP00000360642:p.Pro358fs		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Frame_Shift_Ins	INS	ENST00000371586.2	37	CCDS30714.1																																																																																				0.658	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		G	52824975	-	G	52824974	7	5	379	1	0	1	1	0	0	0	0	0	2729	1567	55	0	1562	0	CC2D1B	1	52824974	Frame_Shift_Ins	INS	-	TCGA-BP-4963-01A-01D-1462-08	26201550	52824974	196425647	3	20956											
LEPR	3953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	66067338	66067338	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:66067338C>T	ENST00000349533.6	+	9	1443	c.1258C>T	c.(1258-1260)Cat>Tat	p.H420Y	LEPR_ENST00000371059.3_Missense_Mutation_p.H420Y|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.H420Y|LEPR_ENST00000344610.8_Missense_Mutation_p.H420Y|LEPR_ENST00000371058.1_Missense_Mutation_p.H420Y|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.H420Y(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGAATGCCATCATCGCTATGC	0.353																																																3	Substitution - Missense(3)	kidney(3)											77	74	75					1																	66067338		2201	4299	6500	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1258C>T	1.37:g.66067338C>T	ENSP00000330393:p.His420Tyr		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663750	0.67700	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	4.73	4.73	0.59995	Immunoglobulin C2-set-like, ligand-binding (1);	0.317827	0.34025	N	0.004323	T	0.78761	0.4334	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.72625	0.978;0.963;0.942	T	0.75698	-0.3227	10	0.06891	T	0.86	-19.1732	17.8804	0.88839	0.0:1.0:0.0:0.0	.	420;420;420	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	Y	420	ENSP00000340884:H420Y;ENSP00000330393:H420Y;ENSP00000360099:H420Y;ENSP00000360098:H420Y;ENSP00000360097:H420Y	ENSP00000340884:H420Y	H	+	1	0	LEPR	65839926	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.902000	0.56310	2.449000	0.82847	0.467000	0.42956	CAT		0.353	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		T	66067338	C	T	66067338	3	4	379	1	0	0	0	0	1	0	0	0	8730	826	29	2	1284	2	LEPR	1	66067338	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08	13242364	66067338	183183283	4	20957											
RPRD2	23248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150432593	150432593	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:150432593C>T	ENST00000369068.4	+	9	1215	c.1211C>T	c.(1210-1212)aCa>aTa	p.T404I	RPRD2_ENST00000539519.1_Missense_Mutation_p.T378I|RPRD2_ENST00000401000.4_Missense_Mutation_p.T378I|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	404						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.T404I(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCTGTACCTACAAAGCCAACA	0.438																																																2	Substitution - Missense(2)	kidney(2)											98	97	97					1																	150432593		1908	4130	6038	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1211C>T	1.37:g.150432593C>T	ENSP00000358064:p.Thr404Ile		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392024	0.42410	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.46451	0.88;0.87;0.89	5.01	5.01	0.66863	.	0.465327	0.26000	N	0.026960	T	0.21427	0.0516	L	0.54323	1.7	0.27010	N	0.964719	B;B;B	0.32829	0.063;0.316;0.386	B;B;B	0.24269	0.023;0.027;0.052	T	0.07731	-1.0757	10	0.49607	T	0.09	-2.4196	13.2065	0.59800	0.0:0.9207:0.0:0.0793	.	378;404;378	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	I	378;378;404	ENSP00000383785:T378I;ENSP00000445482:T378I;ENSP00000358064:T404I	ENSP00000358064:T404I	T	+	2	0	RPRD2	148699217	0.004000	0.15560	0.981000	0.43875	0.815000	0.46073	1.083000	0.30815	2.765000	0.95021	0.555000	0.69702	ACA		0.438	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		T	150432593	C	T	150432593	3	4	379	1	0	0	0	0	1	0	0	0	13623	478	17	2	1245	2	RPRD2	1	150432593	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08	84365255	150432593	98818028	5	20958											
SLC39A1	27173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153932643	153932643	+	Silent	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:153932643C>T	ENST00000368623.3	-	3	1665	c.906G>A	c.(904-906)agG>agA	p.R302R	SLC39A1_ENST00000461071.1_5'Flank|CRTC2_ENST00000368633.1_5'Flank|SLC39A1_ENST00000356205.4_Silent_p.R302R|SLC39A1_ENST00000368621.1_Silent_p.R302R|CRTC2_ENST00000476883.1_5'Flank|SLC39A1_ENST00000310483.6_Silent_p.R302R|CRTC2_ENST00000368630.3_5'Flank|SLC39A1_ENST00000537590.1_Silent_p.R200R			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	302				R -> G (in Ref. 4; BAC11502). {ECO:0000305}.	cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)	p.R302R(1)		kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCTTGAGGATCCTTTGCTCAG	0.557																																																1	Substitution - coding silent(1)	kidney(1)											65	70	68					1																	153932643		2203	4300	6503	SO:0001819	synonymous_variant	27173			BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"Solute carriers"	12876	protein-coding gene	gene with protein product		604740	"zinc/iron regulated transporter-like"	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.906G>A	1.37:g.153932643C>T			B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Silent	SNP	ENST00000368623.3	37	CCDS1055.1																																																																																				0.557	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		T	153932643	C	T	153932643	2	4	379	1	0	0	0	0	0	0	0	1	14618	854	30	2		2	SLC39A1	1	153932643	Silent	SNP	C	TCGA-BP-4963-01A-01D-1462-08	3500050	153932643	95317978	6	20959											
SLC25A44	9673	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156169881	156169881	+	Silent	SNP	C	C	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:156169881C>A	ENST00000359511.4	+	2	415	c.243C>A	c.(241-243)acC>acA	p.T81T	SLC25A44_ENST00000423538.2_Silent_p.T81T|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	81					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.T81T(1)		breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TGGTCAATACCTTCACCCTCA	0.517																																																1	Substitution - coding silent(1)	kidney(1)											117	108	111					1																	156169881		2203	4300	6503	SO:0001819	synonymous_variant	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.243C>A	1.37:g.156169881C>A			O75034	Silent	SNP	ENST00000359511.4	37	CCDS1133.1																																																																																				0.517	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		A	156169881	C	A	156169881	2	1	379	1	0	0	0	0	0	0	0	1	14515	668	24	4		4	SLC25A44	1	156169881	Silent	SNP	C	TCGA-BP-4963-01A-01D-1462-08	2237238	156169881	93080740	7	20960											
SLAMF7	57823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160718025	160718025	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:160718025G>A	ENST00000368043.3	+	2	134	c.97G>A	c.(97-99)Gtt>Att	p.V33I	SLAMF7_ENST00000441662.2_Missense_Mutation_p.V33I|SLAMF7_ENST00000444090.2_Missense_Mutation_p.V33I|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000359331.4_Missense_Mutation_p.V33I|SLAMF7_ENST00000368042.3_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	33	Ig-like V-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V33I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTCGGTTCCGTTGGTGGGGC	0.498																																																1	Substitution - Missense(1)	kidney(1)											76	76	76					1																	160718025		2203	4300	6503	SO:0001583	missense	57823			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.97G>A	1.37:g.160718025G>A	ENSP00000357022:p.Val33Ile		A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	ENST00000368043.3	37	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	G	2.324	-0.354990	0.05138	.	.	ENSG00000026751	ENST00000444090;ENST00000441662;ENST00000368043;ENST00000359331	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.07	-8.13	0.01073	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.966570	0.02047	N	0.049737	T	0.19846	0.0477	N	0.04508	-0.205	0.20307	N	0.999919	B;B;B;B	0.17268	0.002;0.002;0.021;0.004	B;B;B;B	0.12837	0.005;0.003;0.008;0.005	T	0.18461	-1.0336	10	0.42905	T	0.14	0.5977	11.227	0.48890	0.3167:0.159:0.5243:0.0	.	33;33;33;33	B4DPY3;B4DPU4;A8K3U1;Q9NQ25	.;.;.;SLAF7_HUMAN	I	33	ENSP00000416592:V33I;ENSP00000405605:V33I;ENSP00000357022:V33I;ENSP00000352281:V33I	ENSP00000352281:V33I	V	+	1	0	SLAMF7	158984649	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-4.323000	0.00253	-1.860000	0.01154	-2.881000	0.00097	GTT		0.498	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181		A	160718025	G	A	160718025	3	1	379	1	0	0	0	0	1	0	0	0	14375	1145	40	1	103	1	SLAMF7	1	160718025	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	4548144	160718025	88532596	8	20961											
MPZL1	9019	broad.mit.edu;hgsc.bcm.edu	37	1	167734877	167734877	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:167734877A>C	ENST00000359523.2	+	2	351	c.149A>C	c.(148-150)aAt>aCt	p.N50T	MPZL1_ENST00000474859.1_Missense_Mutation_p.N50T|MPZL1_ENST00000392121.3_Missense_Mutation_p.N50T	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	50	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)	p.N50T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TTCGTGGCAAATGGTACACAA	0.488																																																1	Substitution - Missense(1)	kidney(1)											87	80	82					1																	167734877		2203	4300	6503	SO:0001583	missense	9019			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.149A>C	1.37:g.167734877A>C	ENSP00000352513:p.Asn50Thr		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560698	0.65538	.	.	ENSG00000197965	ENST00000359523;ENST00000392121;ENST00000474859;ENST00000367853	T;D;T;T	0.94280	-0.06;-3.39;-0.06;-0.06	4.79	4.79	0.61399	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94886	0.8347	M	0.70275	2.135	0.49687	D	0.999819	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.93433	0.6787	9	0.24483	T	0.36	.	15.0422	0.71799	1.0:0.0:0.0:0.0	.	50;50;50	B2REC0;O95297-3;O95297	.;.;MPZL1_HUMAN	T	50;50;50;24	ENSP00000352513:N50T;ENSP00000375968:N50T;ENSP00000420455:N50T;ENSP00000356827:N24T	ENSP00000352513:N50T	N	+	2	0	MPZL1	166001501	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	4.795000	0.62489	2.113000	0.64589	0.533000	0.62120	AAT		0.488	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		C	167734877	A	C	167734877	3	2	379	1	0	0	0	0	1	0	0	0	9751	101	4	5	155	5	MPZL1	1	167734877	Missense_Mutation	SNP	A	TCGA-BP-4963-01A-01D-1462-08	7016852	167734877	81515744	9	20962											
PRG4	10216	broad.mit.edu	37	1	186276051	186276052	+	Missense_Mutation	DNP	CA	CA	TC	rs542620960|rs575484346	byFrequency	TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:186276051_186276052CA>TC	ENST00000445192.2	+	7	1245_1246	c.1200_1201CA>TC	c.(1198-1203)acCAcc>acTCcc	p.T401P	PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T401P(4)|p.T400T(3)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGGAGCC	0.644																																																8	Substitution - Missense(4)|Substitution - coding silent(3)|Complex(1)	kidney(3)|lung(2)|endometrium(2)|prostate(1)																																								SO:0001583	missense	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	Exception_encountered	1.37:g.186276051_186276052delinsTC	ENSP00000399679:p.Thr401Pro		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent|Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																				0.644	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		TC	186276052	CA	TC	186276051	3	4	379	1	0	0	0	0	1	0	0	0	12486	581	21	2	1222	2	PRG4	1	186276051	Missense_Mutation	DNP	CA	TCGA-BP-4963-01A-01D-1462-08	18541174	186276051	62974570	10	20963											
ALLC	55821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	3727474	3727474	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:3727474T>C	ENST00000252505.3	+	5	350	c.188T>C	c.(187-189)gTc>gCc	p.V63A		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	82					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.V63A(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GACTGGTGTGTCCTCAGGCTG	0.572										HNSCC(21;0.051)																																						1	Substitution - Missense(1)	kidney(1)											141	151	147					2																	3727474		2159	4241	6400	SO:0001583	missense	55821			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.188T>C	2.37:g.3727474T>C	ENSP00000252505:p.Val63Ala		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145846	0.37923	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	5.77	0.91146	Allantoicase domain (1);Galactose-binding domain-like (1);	0.150888	0.56097	D	0.000024	T	0.58878	0.2153	M	0.85462	2.755	0.30053	N	0.811541	P	0.39044	0.656	B	0.37198	0.243	T	0.69573	-0.5109	9	0.87932	D	0	-18.0585	14.3292	0.66541	0.0:0.0:0.0:1.0	.	82	Q8N6M5	ALLC_HUMAN	A	63	.	ENSP00000252505:V63A	V	+	2	0	ALLC	3705349	0.570000	0.26651	0.098000	0.21074	0.029000	0.11900	5.496000	0.66918	2.326000	0.78906	0.533000	0.62120	GTC		0.572	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			C	3727474	T	C	3727474	3	2	379	1	0	0	0	0	1	0	0	0	534	1667	58	3	202	3	ALLC	2	3727474	Missense_Mutation	SNP	T	TCGA-BP-4963-01A-01D-1462-08		3727474	239471899	11	20964											
MAPRE3	22924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27245101	27245101	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:27245101G>A	ENST00000233121.2	+	2	213	c.15G>A	c.(13-15)gtG>gtA	p.V5V	MAPRE3_ENST00000405074.3_Silent_p.V5V|MAPRE3_ENST00000402218.1_Silent_p.V5V|MAPRE3_ENST00000491354.1_3'UTR			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	5					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.V5V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTCAATGTGTACTCCACAT	0.502																																																1	Substitution - coding silent(1)	kidney(1)											189	177	181					2																	27245101		2203	4300	6503	SO:0001819	synonymous_variant	22924			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.15G>A	2.37:g.27245101G>A			B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Silent	SNP	ENST00000233121.2	37	CCDS1731.1																																																																																				0.502	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		A	27245101	G	A	27245101	2	1	379	1	0	0	0	0	0	0	0	1	9298	1364	48	2		2	MAPRE3	2	27245101	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08	23517627	27245101	215954272	12	20965											
EIF2AK2	5610	hgsc.bcm.edu;ucsc.edu	37	2	37368712	37368712	+	Frame_Shift_Del	DEL	C	C	-	rs138439257		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:37368712delC	ENST00000233057.4	-	5	695	c.373delG	c.(373-375)gtgfs	p.V125fs	EIF2AK2_ENST00000395127.2_Frame_Shift_Del_p.V125fs|EIF2AK2_ENST00000405334.1_Frame_Shift_Del_p.V125fs	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	125	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GGCCCATGCACCCCCGATGCA	0.363																																																0													143	140	141					2																	37368712		2203	4300	6503	SO:0001589	frameshift_variant	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.373delG	2.37:g.37368712delC	ENSP00000233057:p.Val125fs		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Frame_Shift_Del	DEL	ENST00000233057.4	37	CCDS1786.1																																																																																				0.363	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		-	37368712	C	-	37368712	7	5	379	1	0	1	0	1	0	0	0	0	4999	507	18	0	1334	0	EIF2AK2	2	37368712	Frame_Shift_Del	DEL	C	TCGA-BP-4963-01A-01D-1462-08	10123611	37368712	205830661	13	20966											
SMEK2	57223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	55825590	55825590	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:55825590T>A	ENST00000345102.5	-	4	1184	c.883A>T	c.(883-885)Att>Ttt	p.I295F	SMEK2_ENST00000272313.5_Missense_Mutation_p.I295F|SMEK2_ENST00000407823.3_Missense_Mutation_p.I295F	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	295					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.I295F(2)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTGAAGAAAATAAAAGACGTA	0.333																																																2	Substitution - Missense(2)	kidney(2)											47	49	48					2																	55825590		2203	4299	6502	SO:0001583	missense	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.883A>T	2.37:g.55825590T>A	ENSP00000339769:p.Ile295Phe		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.503380	0.64298	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.59224	0.28;0.28;0.28	5.7	5.7	0.88788	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	H	0.94423	3.535	0.80722	D	1	B;B;B;B	0.28971	0.021;0.118;0.024;0.229	B;B;B;B	0.37346	0.036;0.247;0.036;0.169	T	0.78160	-0.2312	10	0.87932	D	0	-14.5999	15.9645	0.79956	0.0:0.0:0.0:1.0	.	295;295;295;295	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	F	295	ENSP00000272313:I295F;ENSP00000385912:I295F;ENSP00000339769:I295F	ENSP00000272313:I295F	I	-	1	0	SMEK2	55679094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.174000	0.68829	0.533000	0.62120	ATT		0.333	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		A	55825590	T	A	55825590	3	1	379	1	0	0	0	0	1	0	0	0	14800	1406	49	5	1722	5	SMEK2	2	55825590	Missense_Mutation	SNP	T	TCGA-BP-4963-01A-01D-1462-08	18456878	55825590	187373783	14	20967											
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61566797	61566797	+	Silent	SNP	A	A	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:61566797A>G	ENST00000398571.2	-	17	2596	c.2520T>C	c.(2518-2520)caT>caC	p.H840H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	840					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.H840H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGTTGAATTGATGTTTATGAA	0.328																																																1	Substitution - coding silent(1)	kidney(1)											70	61	64					2																	61566797		1815	4072	5887	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2520T>C	2.37:g.61566797A>G			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1																																																																																				0.328	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			G	61566797	A	G	61566797	2	3	379	1	0	0	0	0	0	0	0	1	17070	330	12	3		3	USP34	2	61566797	Silent	SNP	A	TCGA-BP-4963-01A-01D-1462-08	5741207	61566797	181632576	15	20968											
ANKRD36	375248	broad.mit.edu	37	2	97864367	97864367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:97864367delA	ENST00000461153.2	+	44	2971	c.2727delA	c.(2725-2727)ggafs	p.G909fs	ANKRD36_ENST00000420699.2_Frame_Shift_Del_p.G909fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	909										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TAGCCAGAGGAAAAAAGGATG	0.308																																																0													19	10	12					2																	97864367		692	1542	2234	SO:0001589	frameshift_variant	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2727delA	2.37:g.97864367delA	ENSP00000419530:p.Gly909fs		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Frame_Shift_Del	DEL	ENST00000461153.2	37	CCDS54379.1																																																																																				0.308	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			-	97864367	A	-	97864367	7	5	379	1	0	1	0	1	0	0	0	0	665	233	9	0	2901	0	ANKRD36	2	97864367	Frame_Shift_Del	DEL	A	TCGA-BP-4963-01A-01D-1462-08	36297570	97864367	145335006	16	20969											
GLI2	2736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	121747767	121747767	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:121747767C>T	ENST00000452319.1	+	14	4337	c.4277C>T	c.(4276-4278)tCg>tTg	p.S1426L	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.S1426L					GLI family zinc finger 2									p.S1426L(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AACATGGGGTCGGTGCCTCCC	0.657																																																1	Substitution - Missense(1)	kidney(1)											36	39	38					2																	121747767		2201	4300	6501	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4277C>T	2.37:g.121747767C>T	ENSP00000390436:p.Ser1426Leu			Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	0.974	-0.699338	0.03279	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.14516	2.5;2.5	4.57	3.68	0.42216	.	0.671762	0.12373	N	0.474630	T	0.12902	0.0313	L	0.51422	1.61	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.06405	0.001;0.002	T	0.23655	-1.0182	9	.	.	.	.	7.6513	0.28350	0.0:0.7416:0.1672:0.0912	.	1426;1081	P10070;P10070-2	GLI2_HUMAN;.	L	1426	ENSP00000390436:S1426L;ENSP00000354586:S1426L	.	S	+	2	0	GLI2	121464237	0.965000	0.33210	0.001000	0.08648	0.009000	0.06853	1.198000	0.32223	1.112000	0.41740	0.455000	0.32223	TCG		0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121747767	C	T	121747767	3	4	379	1	0	0	0	0	1	0	0	0	6440	893	31	1	4327	1	GLI2	2	121747767	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08	23883400	121747767	121451606	17	20970											
MARS2	92935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	198571443	198571443	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:198571443G>A	ENST00000282276.6	+	1	1357	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	438					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.P438P(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGGTGGGGCCGTCAGTTCGTG	0.517																																																1	Substitution - coding silent(1)	kidney(1)											87	88	88					2																	198571443		2203	4300	6503	SO:0001819	synonymous_variant	92935			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1314G>A	2.37:g.198571443G>A			A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	CCDS33358.1																																																																																				0.517	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		A	198571443	G	A	198571443	2	1	379	1	0	0	0	0	0	0	0	1	9319	1132	40	1		1	MARS2	2	198571443	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08	76823676	198571443	44627930	18	20971											
SMARCAL1	50485	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	217280065	217280065	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:217280065G>C	ENST00000357276.4	+	3	968	c.638G>C	c.(637-639)aGt>aCt	p.S213T	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S213T	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	213					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.S213T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGCTCAGAGAGTGTAACGCCC	0.522									Schimke Immuno-Osseous Dysplasia																																							1	Substitution - Missense(1)	kidney(1)											90	88	89					2																	217280065		2203	4300	6503	SO:0001583	missense	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.638G>C	2.37:g.217280065G>C	ENSP00000349823:p.Ser213Thr		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	3.248	-0.153959	0.06585	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	D;D;T;D	0.86030	-2.03;-2.03;1.49;-2.06	4.88	1.93	0.25924	.	0.656147	0.14107	N	0.340961	T	0.72946	0.3524	L	0.29908	0.895	0.09310	N	1	B	0.22276	0.067	B	0.21360	0.034	T	0.57499	-0.7801	10	0.26408	T	0.33	-7.0E-4	5.727	0.18018	0.1733:0.3016:0.5251:0.0	.	213	Q9NZC9	SMAL1_HUMAN	T	213;213;112;77	ENSP00000349823:S213T;ENSP00000350940:S213T;ENSP00000392997:S112T;ENSP00000375974:S77T	ENSP00000349823:S213T	S	+	2	0	SMARCAL1	216988310	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.829000	0.04415	0.640000	0.30582	0.644000	0.83932	AGT		0.522	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			C	217280065	G	C	217280065	3	2	379	1	0	0	0	0	1	0	0	0	14779	1029	36	4	640	4	SMARCAL1	2	217280065	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	18708622	217280065	25919308	19	20972											
CUL3	8452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225368421	225368421	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:225368421G>C	ENST00000264414.4	-	9	1663	c.1325C>G	c.(1324-1326)aCa>aGa	p.T442R	CUL3_ENST00000409096.1_Missense_Mutation_p.T418R|CUL3_ENST00000344951.4_Missense_Mutation_p.T376R|CUL3_ENST00000409777.1_Missense_Mutation_p.T418R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	442					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.T442R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACTTTTATTTGTGAGAAGTCT	0.313																																																1	Substitution - Missense(1)	kidney(1)											131	117	122					2																	225368421		2202	4298	6500	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1325C>G	2.37:g.225368421G>C	ENSP00000264414:p.Thr442Arg		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054148	0.55218	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.67	5.67	0.87782	Cullin, N-terminal (1);Cullin homology (3);	0.044682	0.85682	D	0.000000	T	0.63094	0.2482	N	0.19112	0.55	0.80722	D	1	P;P;P	0.44090	0.826;0.469;0.469	B;B;B	0.39258	0.195;0.295;0.295	T	0.62978	-0.6739	10	0.29301	T	0.29	.	19.7689	0.96353	0.0:0.0:1.0:0.0	.	376;420;442	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	R	442;376;418;418	ENSP00000264414:T442R;ENSP00000343601:T376R;ENSP00000387200:T418R;ENSP00000386525:T418R	ENSP00000264414:T442R	T	-	2	0	CUL3	225076665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.757000	0.62213	2.656000	0.90262	0.650000	0.86243	ACA		0.313	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			C	225368421	G	C	225368421	3	2	379	1	0	0	0	0	1	0	0	0	4058	1377	48	4	1013	4	CUL3	2	225368421	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	8088356	225368421	17830952	20	20973											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191507	10191507	+	Frame_Shift_Del	DEL	G	G	-	rs5030821		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:10191507delG	ENST00000256474.2	+	3	1340	c.500delG	c.(499-501)cggfs	p.R167fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.R126fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	167			R -> G (in VHLD; type I-II). {ECO:0000269|PubMed:9829911}.|R -> Q (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030821). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|R -> W (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030820). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8592333, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R167Q(4)|p.V166fs*6(1)|p.S168fs*2(1)|p.R167fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAGGTTGTCCGGAGCCTAGTC	0.512		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Substitution - Missense(4)|Deletion - Frameshift(3)	kidney(7)	GRCh37	CM941382	VHL	M	rs5030821						91	83	85					3																	10191507		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.500delG	3.37:g.10191507delG	ENSP00000256474:p.Arg167fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191507	G	-	10191507	7	5	379	1	0	1	0	1	0	0	0	0	17167	1116	39	0	510	0	VHL	3	10191507	Frame_Shift_Del	DEL	G	TCGA-BP-4963-01A-01D-1462-08		10191507	187830923	21	20974	163	2									
VHL	7428	hgsc.bcm.edu	37	3	10191509	10191509	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:10191509A>T	ENST00000256474.2	+	3	1342	c.502A>T	c.(502-504)Agc>Tgc	p.S168C	VHL_ENST00000345392.2_Missense_Mutation_p.S127C|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	168					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V170fs*31(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGTTGTCCGGAGCCTAGTCAA	0.512		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	1	Deletion - Frameshift(1)	kidney(1)											92	83	86					3																	10191509		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.502A>T	3.37:g.10191509A>T	ENSP00000256474:p.Ser168Cys		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189725	0.38707	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99825	-6.97;-6.97	4.86	3.62	0.41486	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.151549	0.64402	D	0.000017	D	0.98667	0.9553	N	0.21448	0.665	0.33290	D	0.563414	B;B	0.24317	0.101;0.064	B;B	0.26310	0.068;0.034	D	0.99987	1.3484	10	0.59425	D	0.04	-7.2742	9.2542	0.37573	0.8381:0.0:0.0:0.1619	.	127;168	P40337-2;P40337	.;VHL_HUMAN	C	168;127;86	ENSP00000256474:S168C;ENSP00000344757:S127C	ENSP00000256474:S168C	S	+	1	0	VHL	10166509	0.982000	0.34865	0.906000	0.35671	0.740000	0.42216	2.627000	0.46469	2.162000	0.67917	0.533000	0.62120	AGC		0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191509	A	T	10191509	3	4	379	1	0	0	0	0	1	0	0	0	17167	304	11	5	512	5	VHL	3	10191509	Missense_Mutation	SNP	A	TCGA-BP-4963-01A-01D-1462-08	2	10191509	187830921	22	20975	163	2									
SLC35A5	55032	hgsc.bcm.edu;ucsc.edu	37	3	112299395	112299396	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:112299395_112299396insA	ENST00000492406.1	+	6	714_715	c.431_432insA	c.(430-435)aggcgtfs	p.R145fs	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	145					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TTGAACAGGAGGCGTCTAAACT	0.406																																																0																																										SO:0001589	frameshift_variant	55032			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"Solute carriers"	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	Exception_encountered	3.37:g.112299395_112299396insA	ENSP00000417654:p.Arg145fs		D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Frame_Shift_Ins	INS	ENST00000492406.1	37	CCDS2967.1																																																																																				0.406	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		A	112299396	-	A	112299395	7	5	379	1	0	1	1	0	0	0	0	0	14580	1000	35	0	449	0	SLC35A5	3	112299395	Frame_Shift_Ins	INS	-	TCGA-BP-4963-01A-01D-1462-08	102107886	112299395	85723035	23	20976											
ZXDC	79364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	126160625	126160625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:126160625G>A	ENST00000389709.3	-	8	2430	c.2377C>T	c.(2377-2379)Cag>Tag	p.Q793*		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	793	Interaction with CIITA.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q793*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		AGCTGGACCTGGACGCCCTGC	0.672																																																1	Substitution - Nonsense(1)	kidney(1)											30	37	35					3																	126160625		2108	4213	6321	SO:0001587	stop_gained	79364			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2377C>T	3.37:g.126160625G>A	ENSP00000374359:p.Gln793*		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Nonsense_Mutation	SNP	ENST00000389709.3	37	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	38	6.706321	0.97776	.	.	ENSG00000070476	ENST00000389709	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6184	13.9589	0.64166	0.0:0.0:1.0:0.0	.	.	.	.	X	793	.	ENSP00000374359:Q793X	Q	-	1	0	ZXDC	127643315	1.000000	0.71417	0.044000	0.18714	0.003000	0.03518	5.201000	0.65163	2.355000	0.79922	0.591000	0.81541	CAG		0.672	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		A	126160625	G	A	126160625	4	1	379	1	0	0	0	0	0	1	0	0	18257	1357	47	2	211	2	ZXDC	3	126160625	Nonsense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	13861230	126160625	71861805	24	20977											
EPHB1	2047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	134967305	134967305	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:134967305A>T	ENST00000398015.3	+	14	3014	c.2644A>T	c.(2644-2646)Atc>Ttc	p.I882F	EPHB1_ENST00000493838.1_Missense_Mutation_p.I443F	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	882	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.I882F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGATAAGATGATCCGGAACCC	0.557																																																2	Substitution - Missense(2)	kidney(2)											26	31	30					3																	134967305		2179	4297	6476	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2644A>T	3.37:g.134967305A>T	ENSP00000381097:p.Ile882Phe		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585592	0.86748	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.62364	0.03;0.03	5.65	5.65	0.86999	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054081	0.64402	D	0.000001	T	0.56717	0.2004	L	0.56396	1.775	0.80722	D	1	P	0.48640	0.913	B	0.35182	0.197	T	0.66240	-0.5973	10	0.87932	D	0	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	882	P54762	EPHB1_HUMAN	F	882;443	ENSP00000381097:I882F;ENSP00000419574:I443F	ENSP00000381097:I882F	I	+	1	0	EPHB1	136449995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.087000	0.94110	2.371000	0.80710	0.533000	0.62120	ATC		0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		T	134967305	A	T	134967305	3	4	379	1	0	0	0	0	1	0	0	0	5176	333	12	5	2698	5	EPHB1	3	134967305	Missense_Mutation	SNP	A	TCGA-BP-4963-01A-01D-1462-08	8806680	134967305	63055125	25	20978											
TP63	8626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	189604291	189604291	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:189604291G>A	ENST00000264731.3	+	11	1547	c.1458G>A	c.(1456-1458)caG>caA	p.Q486Q	TP63_ENST00000392463.2_Silent_p.Q392Q|TP63_ENST00000382063.4_Silent_p.Q401Q|TP63_ENST00000449992.1_Silent_p.Q307Q|TP63_ENST00000354600.5_Silent_p.Q392Q|TP63_ENST00000440651.2_Silent_p.Q482Q|TP63_ENST00000392460.3_Silent_p.Q486Q|TP63_ENST00000392461.3_Silent_p.Q392Q|TP63_ENST00000320472.5_Silent_p.Q486Q|TP63_ENST00000456148.1_Silent_p.Q388Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	486					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.Q486Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCCTCAGCAGCGCAACGCCC	0.498										HNSCC(45;0.13)																																						1	Substitution - coding silent(1)	kidney(1)											138	112	121					3																	189604291		2203	4300	6503	SO:0001819	synonymous_variant	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1458G>A	3.37:g.189604291G>A			O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	CCDS3293.1																																																																																				0.498	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		A	189604291	G	A	189604291	2	1	379	1	0	0	0	0	0	0	0	1	16397	962	34	2		2	TP63	3	189604291	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08	54636986	189604291	8418139	26	20979											
SPZ1	84654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	79616823	79616823	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr5:79616823G>A	ENST00000296739.4	+	1	1034	c.789G>A	c.(787-789)gaG>gaA	p.E263E		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	263					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E263E(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AACATACTGAGCTCAGTAAAC	0.358																																																1	Substitution - coding silent(1)	kidney(1)											73	69	70					5																	79616823		1849	4098	5947	SO:0001819	synonymous_variant	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.789G>A	5.37:g.79616823G>A			B2RA21|Q8N4P1|Q8N7E9	Silent	SNP	ENST00000296739.4	37	CCDS43336.1																																																																																				0.358	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		A	79616823	G	A	79616823	2	1	379	1	0	0	0	0	0	0	0	1	15132	962	34	2		2	SPZ1	5	79616823	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08		79616823	101298437	27	20980											
XRCC4	7518	hgsc.bcm.edu;ucsc.edu	37	5	82491622	82491623	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr5:82491622_82491623insA	ENST00000511817.1	+	4	429_430	c.349_350insA	c.(349-351)gaafs	p.E117fs	XRCC4_ENST00000396027.4_Frame_Shift_Ins_p.E117fs|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000282268.3_Frame_Shift_Ins_p.E117fs|XRCC4_ENST00000338635.6_Frame_Shift_Ins_p.E117fs			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	117					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		AGAGAAAGTTGAAAACCCAGCT	0.361								Non-homologous end-joining																																								0																																										SO:0001589	frameshift_variant	7518			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"X-ray repair, complementing defective, repair in Chinese hamster", "DNA repair protein XRCC4"	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.353dupA	5.37:g.82491626_82491626dupA	ENSP00000421491:p.Glu117fs		A8K3X4|Q9BS72|Q9UP94	Frame_Shift_Ins	INS	ENST00000511817.1	37	CCDS4059.1																																																																																				0.361	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		A	82491623	-	A	82491622	7	5	379	1	0	1	1	0	0	0	0	0	17460	1291	45	0	359	0	XRCC4	5	82491622	Frame_Shift_Ins	INS	-	TCGA-BP-4963-01A-01D-1462-08	2874799	82491622	98423638	28	20981											
DDX46	9879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	134126242	134126242	+	Splice_Site	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr5:134126242G>A	ENST00000354283.4	+	13	1761	c.1626G>A	c.(1624-1626)caG>caA	p.Q542Q	DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000452510.2_Splice_Site_p.Q542Q			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	542	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.Q542Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGAACCCCAGGTAATCATTA	0.338																																					Colon(13;391 453 4901 21675 24897)											1	Substitution - coding silent(1)	kidney(1)											74	76	75					5																	134126242		2203	4300	6503	SO:0001630	splice_region_variant	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1626+1G>A	5.37:g.134126242G>A			O94894|Q96EI0|Q9Y658	Silent	SNP	ENST00000354283.4	37	CCDS34240.1																																																																																				0.338	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	Silent	A	134126242	G	A	134126242	5	1	379	1	0	0	0	0	0	0	1	0	4366	1014	35	2	1676	2	DDX46	5	134126242	Splice_Site	SNP	G	TCGA-BP-4963-01A-01D-1462-08	51634620	134126242	46789018	29	20982											
MBOAT1	154141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	20144501	20144501	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr6:20144501G>A	ENST00000324607.7	-	4	533	c.369C>T	c.(367-369)atC>atT	p.I123I	MBOAT1_ENST00000536798.1_Silent_p.I123I|MBOAT1_ENST00000541730.1_5'UTR	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	123					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.I123I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATATTCGGCTGATGTGGCATA	0.358																																																1	Substitution - coding silent(1)	kidney(1)											141	141	141					6																	20144501		2203	4300	6503	SO:0001819	synonymous_variant	154141			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.369C>T	6.37:g.20144501G>A			A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Silent	SNP	ENST00000324607.7	37	CCDS34346.1																																																																																				0.358	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			A	20144501	G	A	20144501	2	1	379	1	0	0	0	0	0	0	0	1	9358	1280	45	2		2	MBOAT1	6	20144501	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08		20144501	150970566	30	20983											
B3GAT2	135152	broad.mit.edu;ucsc.edu	37	6	71571408	71571408	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr6:71571408G>C	ENST00000230053.6	-	4	1538	c.930C>G	c.(928-930)aaC>aaG	p.N310K	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	310		Interaction with galactose moiety of substrate glycoprotein. {ECO:0000250}.			carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)	p.N310K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ACTTTGGCTCGTTGGCTAGAT	0.493																																																1	Substitution - Missense(1)	kidney(1)											172	150	158					6																	71571408		2203	4300	6503	SO:0001583	missense	135152			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"Beta-1,3-glucuronyltransferases"	922	protein-coding gene	gene with protein product	"glucuronosyltransferase S", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.930C>G	6.37:g.71571408G>C	ENSP00000230053:p.Asn310Lys		Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535614	0.45176	.	.	ENSG00000112309	ENST00000230053	T	0.39997	1.05	5.51	-2.03	0.07365	.	0.000000	0.85682	D	0.000000	T	0.12390	0.0301	L	0.40543	1.245	0.80722	D	1	B	0.31485	0.325	B	0.18263	0.021	T	0.07501	-1.0769	10	0.27082	T	0.32	-14.6017	11.9391	0.52890	0.6352:0.0:0.3648:0.0	.	310	Q9NPZ5	B3GA2_HUMAN	K	310	ENSP00000230053:N310K	ENSP00000230053:N310K	N	-	3	2	B3GAT2	71628129	0.279000	0.24239	0.989000	0.46669	0.976000	0.68499	-0.222000	0.09190	-0.534000	0.06315	-0.300000	0.09419	AAC		0.493	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		C	71571408	G	C	71571408	3	2	379	1	0	0	0	0	1	0	0	0	1254	1136	40	4	45	4	B3GAT2	6	71571408	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	51426907	71571408	99543659	31	20984											
RBM16	22828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	155154022	155154022	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr6:155154022G>T	ENST00000367178.3	+	20	3885	c.3309G>T	c.(3307-3309)gaG>gaT	p.E1103D	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.E1169D|SCAF8_ENST00000417268.1_Missense_Mutation_p.E1103D	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1103					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.E1103D(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ATGAGAGAGAGCATCGGGTTC	0.463																																																1	Substitution - Missense(1)	kidney(1)											53	59	57					6																	155154022		2203	4300	6503	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3309G>T	6.37:g.155154022G>T	ENSP00000356146:p.Glu1103Asp		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535494	0.27475	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.40476	1.06;1.06;1.03	5.73	0.963	0.19649	.	0.476018	0.19835	U	0.104983	T	0.07413	0.0187	N	0.11560	0.145	0.80722	D	1	B;B;B	0.29188	0.236;0.236;0.034	B;B;B	0.20767	0.031;0.031;0.017	T	0.15636	-1.0430	10	0.27082	T	0.32	.	6.6811	0.23121	0.3878:0.1106:0.5016:0.0	.	1148;1169;1103	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	D	1103;1103;1169;64	ENSP00000356146:E1103D;ENSP00000413098:E1103D;ENSP00000356154:E1169D	ENSP00000356146:E1103D	E	+	3	2	TIAM2;SCAF8	155195714	0.978000	0.34361	0.979000	0.43373	0.882000	0.50991	0.308000	0.19314	0.104000	0.17725	-0.136000	0.14681	GAG		0.463	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		T	155154022	G	T	155154022	3	4	379	1	0	0	0	0	1	0	0	0	13124	962	34	4	3387	4	RBM16	6	155154022	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	83582614	155154022	15961045	32	20985											
HEATR2	54919	broad.mit.edu;ucsc.edu	37	7	780466	780466	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:780466C>T	ENST00000297440.6	+	3	811	c.791C>T	c.(790-792)gCg>gTg	p.A264V	HEATR2_ENST00000313147.5_Missense_Mutation_p.A264V|HEATR2_ENST00000438961.1_3'UTR	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	264						cytoplasm (GO:0005737)		p.A264V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GTCCGGCGGGCGGTGGCCTCC	0.637																																																1	Substitution - Missense(1)	kidney(1)											150	153	152					7																	780466		2203	4300	6503	SO:0001583	missense	54919			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.791C>T	7.37:g.780466C>T	ENSP00000297440:p.Ala264Val		Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740187	0.69304	.	.	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862	T;T	0.22539	1.95;1.95	4.86	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.338293	0.23684	N	0.045597	T	0.37073	0.0990	M	0.77820	2.39	0.80722	D	1	D;D	0.65815	0.994;0.995	P;P	0.49708	0.62;0.552	T	0.25676	-1.0125	10	0.33940	T	0.23	-19.713	17.9228	0.88972	0.0:1.0:0.0:0.0	.	264;10	Q86Y56;F5H8D4	HEAT2_HUMAN;.	V	264;264;10	ENSP00000297440:A264V;ENSP00000321451:A264V	ENSP00000297440:A264V	A	+	2	0	HEATR2	746992	0.998000	0.40836	0.959000	0.39883	0.008000	0.06430	3.916000	0.56416	2.389000	0.81357	0.655000	0.94253	GCG		0.637	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		T	780466	C	T	780466	3	4	379	1	0	0	0	0	1	0	0	0	7030	768	27	1	801	1	HEATR2	7	780466	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08		780466	158358197	33	20986											
MYL7	58498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	44179950	44179950	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:44179950G>C	ENST00000223364.3	-	4	296	c.270C>G	c.(268-270)ttC>ttG	p.F90L	MYL7_ENST00000458240.1_Missense_Mutation_p.F63L|MYL7_ENST00000434895.1_5'UTR	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	90						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)	p.F90L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						AGAGCGTGAGGAAGACGGTGA	0.637																																																1	Substitution - Missense(1)	kidney(1)											141	118	126					7																	44179950		2203	4300	6503	SO:0001583	missense	58498			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"Myosins / Light chain", "EF-hand domain containing"	21719	protein-coding gene	gene with protein product		613993	"myosin, light polypeptide 7, regulatory"			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.270C>G	7.37:g.44179950G>C	ENSP00000223364:p.Phe90Leu		B2R4L3	Missense_Mutation	SNP	ENST00000223364.3	37	CCDS5478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.61|19.61	3.859069|3.859069	0.71834|0.71834	.|.	.|.	ENSG00000106631|ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951|ENST00000431007	T;D;D;D;T|.	0.88896|.	1.67;-2.44;-2.44;-2.44;1.67|.	4.56|4.56	3.44|3.44	0.39384|0.39384	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80839|0.80839	0.4700|0.4700	M|M	0.92122|0.92122	3.275|3.275	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.56521|.	0.976|.	P|.	0.61132|.	0.884|.	D|D	0.85321|0.85321	0.1084|0.1084	10|5	0.62326|.	D|.	0.03|.	.|.	12.4189|12.4189	0.55510|0.55510	0.104:0.0:0.896:0.0|0.104:0.0:0.896:0.0	.|.	90|.	Q01449|.	MLRA_HUMAN|.	L|A	17;90;63;112;119|103	ENSP00000416010:F17L;ENSP00000223364:F90L;ENSP00000403360:F63L;ENSP00000389202:F112L;ENSP00000403988:F119L|.	ENSP00000223364:F90L|.	F|P	-|-	3|1	2|0	MYL7|MYL7	44146475|44146475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.756000|1.756000	0.38390|0.38390	2.084000|2.084000	0.62774|0.62774	0.549000|0.549000	0.68633|0.68633	TTC|CCT		0.637	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223		C	44179950	G	C	44179950	3	2	379	1	0	0	0	0	1	0	0	0	10055	1165	41	4	273	4	MYL7	7	44179950	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	43399484	44179950	114958713	34	20987											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82583794	82583794	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:82583794G>A	ENST00000333891.9	-	5	6812	c.6475C>T	c.(6475-6477)Cat>Tat	p.H2159Y	PCLO_ENST00000423517.2_Missense_Mutation_p.H2159Y	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.H2159Y(2)|p.H2090Y(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCGATTCATGGGCAATTATC	0.403																																																3	Substitution - Missense(3)	kidney(3)											126	123	124					7																	82583794		1907	4127	6034	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6475C>T	7.37:g.82583794G>A	ENSP00000334319:p.His2159Tyr			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.784	0.928958	0.18131	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16196	2.36;2.37	5.62	5.62	0.85841	.	.	.	.	.	T	0.31104	0.0786	L	0.51422	1.61	0.80722	D	1	D;D	0.58620	0.983;0.983	P;P	0.57009	0.811;0.811	T	0.00888	-1.1526	9	0.87932	D	0	.	14.5008	0.67719	0.0:0.0:0.8532:0.1468	.	2159;2159	Q9Y6V0-5;Q9Y6V0-6	.;.	Y	2090;2159;2159	ENSP00000334319:H2159Y;ENSP00000388393:H2159Y	ENSP00000334319:H2159Y	H	-	1	0	PCLO	82421730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.082000	0.50128	2.637000	0.89404	0.650000	0.86243	CAT		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		A	82583794	G	A	82583794	3	1	379	1	0	0	0	0	1	0	0	0	11585	1348	47	2	9054	2	PCLO	7	82583794	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	38403844	82583794	76554869	35	20988											
DNAJC2	27000	broad.mit.edu;hgsc.bcm.edu	37	7	102982243	102982243	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:102982243T>C	ENST00000379263.3	-	2	473	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	DNAJC2_ENST00000249270.7_Missense_Mutation_p.M75V|DNAJC2_ENST00000412522.1_Missense_Mutation_p.M75V	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	75					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)	p.M75V(2)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GTTTTCAGCATGGGAAACTCT	0.368																																																2	Substitution - Missense(2)	kidney(2)											133	123	126					7																	102982243		1827	4088	5915	SO:0001583	missense	27000			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.223A>G	7.37:g.102982243T>C	ENSP00000368565:p.Met75Val		A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059966	0.36373	.	.	ENSG00000105821	ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277;ENST00000412522	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.01	5.01	0.66863	Heat shock protein DnaJ, N-terminal (2);	0.041854	0.85682	D	0.000000	T	0.23133	0.0559	M	0.71581	2.175	0.53005	D	0.999969	B;B;B	0.19200	0.026;0.008;0.034	B;B;B	0.17098	0.012;0.014;0.017	T	0.04693	-1.0933	10	0.20046	T	0.44	-10.9008	10.8415	0.46718	0.0:0.0:0.158:0.8419	.	75;75;75	Q99543-2;F2Z3H0;Q99543	.;.;DNJC2_HUMAN	V	75;75;75;1;75	ENSP00000249270:M75V;ENSP00000368565:M75V;ENSP00000399058:M1V;ENSP00000406275:M75V	ENSP00000249270:M75V	M	-	1	0	DNAJC2	102769479	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.688000	0.46984	1.899000	0.54978	0.377000	0.23210	ATG		0.368	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			C	102982243	T	C	102982243	3	2	379	1	0	0	0	0	1	0	0	0	4641	1464	51	3	1706	3	DNAJC2	7	102982243	Missense_Mutation	SNP	T	TCGA-BP-4963-01A-01D-1462-08	20398449	102982243	56156420	36	20989											
PLXNA4	91584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	131895713	131895713	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:131895713G>T	ENST00000359827.3	-	10	3249	c.2287C>A	c.(2287-2289)Cag>Aag	p.Q763K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Q763K			Q9HCM2	PLXA4_HUMAN	plexin A4	763					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.Q763K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGGTGTTCTGGCACTGTACG	0.617																																																2	Substitution - Missense(2)	kidney(2)											53	61	58					7																	131895713		2196	4300	6496	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2287C>A	7.37:g.131895713G>T	ENSP00000352882:p.Gln763Lys		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082720	0.94050	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.57752	0.38;0.38	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.90650	3.135	0.80722	D	1	D	0.63880	0.993	D	0.64506	0.926	T	0.74743	-0.3562	10	0.19147	T	0.46	.	19.4516	0.94871	0.0:0.0:1.0:0.0	.	763	Q9HCM2	PLXA4_HUMAN	K	763	ENSP00000323194:Q763K;ENSP00000352882:Q763K	ENSP00000323194:Q763K	Q	-	1	0	PLXNA4	131546253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.890000	0.87313	2.592000	0.87571	0.563000	0.77884	CAG		0.617	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	131895713	G	T	131895713	3	4	379	1	0	0	0	0	1	0	0	0	12124	1357	47	4	3489	4	PLXNA4	7	131895713	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	28913470	131895713	27242950	37	20990											
CNTNAP2	26047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	146829512	146829512	+	Missense_Mutation	SNP	G	G	A	rs200673864		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:146829512G>A	ENST00000361727.3	+	8	1775	c.1259G>A	c.(1258-1260)gGc>gAc	p.G420D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	420	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.G420D(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATAATTTGGGCAATGTGGAG	0.478										HNSCC(39;0.1)																																						1	Substitution - Missense(1)	kidney(1)											125	110	115					7																	146829512		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1259G>A	7.37:g.146829512G>A	ENSP00000354778:p.Gly420Asp		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640482	0.87859	.	.	ENSG00000174469	ENST00000361727	T	0.72725	-0.68	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000008	D	0.82393	0.5027	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.77718	-0.2483	10	0.21540	T	0.41	.	18.3986	0.90507	0.0:0.0:1.0:0.0	.	420	Q9UHC6	CNTP2_HUMAN	D	420	ENSP00000354778:G420D	ENSP00000354778:G420D	G	+	2	0	CNTNAP2	146460445	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.318000	0.96334	2.686000	0.91538	0.591000	0.81541	GGC		0.478	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			A	146829512	G	A	146829512	3	1	379	1	0	0	0	0	1	0	0	0	3649	1203	42	2	1289	2	CNTNAP2	7	146829512	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	14933799	146829512	12309151	38	20991											
SGK223	157285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	8185726	8185726	+	Missense_Mutation	SNP	C	C	T	rs199973377		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:8185726C>T	ENST00000520004.1	-	5	2830	c.2566G>A	c.(2566-2568)Gac>Aac	p.D856N	SGK223_ENST00000330777.4_Missense_Mutation_p.D856N			Q86YV5	SG223_HUMAN		858							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.D858N(1)|p.D856N(1)									TGAGATTCGTCGTGGACGTTG	0.567																																					GBM(34;731 755 10259 33573 33867)											2	Substitution - Missense(2)	kidney(2)											181	194	190					8																	8185726		1995	4157	6152	SO:0001583	missense	157285																														ENST00000520004.1:c.2566G>A	8.37:g.8185726C>T	ENSP00000428054:p.Asp856Asn		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407119	0.42715	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.57595	0.39;0.39	4.97	4.97	0.65823	.	0.641019	0.14485	N	0.316736	T	0.37705	0.1013	L	0.39898	1.24	0.09310	N	1	P	0.45078	0.85	B	0.30401	0.115	T	0.38415	-0.9662	10	0.44086	T	0.13	.	11.2471	0.49004	0.0:0.9164:0.0:0.0836	.	856	Q86YV5	SG223_HUMAN	N	856	ENSP00000330930:D856N;ENSP00000428054:D856N	ENSP00000330930:D856N	D	-	1	0	AC068353.1	8223136	0.994000	0.37717	0.087000	0.20705	0.680000	0.39746	5.359000	0.66074	2.751000	0.94390	0.563000	0.77884	GAC		0.567	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			T	8185726	C	T	8185726	3	4	379	1	0	0	0	0	1	0	0	0	14216	884	31	1	1650	1	SGK223	8	8185726	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08		8185726	138178296	39	20992											
MFHAS1	9258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	8748228	8748228	+	Silent	SNP	G	G	T	rs370580365		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:8748228G>T	ENST00000276282.6	-	1	2927	c.2341C>A	c.(2341-2343)Cgg>Agg	p.R781R		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	781								p.R781R(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGGGTGGCCCGGAGCAGTTCC	0.627																																					Melanoma(103;1201 2045 17515 28966)											1	Substitution - coding silent(1)	kidney(1)											49	49	49					8																	8748228		2203	4300	6503	SO:0001819	synonymous_variant	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2341C>A	8.37:g.8748228G>T			Q96CI0	Silent	SNP	ENST00000276282.6	37	CCDS34844.1																																																																																				0.627	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		T	8748228	G	T	8748228	2	4	379	1	0	0	0	0	0	0	0	1	9523	1115	39	4		4	MFHAS1	8	8748228	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08	562502	8748228	137615794	40	20993											
EXTL3	2137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28575522	28575522	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:28575522A>C	ENST00000220562.4	+	3	2848	c.1946A>C	c.(1945-1947)gAa>gCa	p.E649A	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.E265A	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	649					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.E649A(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCTGGCAAGGAATTTCAGGCA	0.547																																																1	Substitution - Missense(1)	kidney(1)											94	92	93					8																	28575522		2203	4300	6503	SO:0001583	missense	2137			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1946A>C	8.37:g.28575522A>C	ENSP00000220562:p.Glu649Ala		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916099	0.73098	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.96073	-3.43;-3.9	5.74	5.74	0.90152	.	0.113411	0.64402	D	0.000007	D	0.97303	0.9118	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.97735	1.0205	10	0.62326	D	0.03	-34.0406	16.3426	0.83092	1.0:0.0:0.0:0.0	.	649	O43909	EXTL3_HUMAN	A	265;649	ENSP00000428691:E265A;ENSP00000220562:E649A	ENSP00000220562:E649A	E	+	2	0	EXTL3	28631441	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.267000	0.95665	2.317000	0.78254	0.460000	0.39030	GAA		0.547	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		C	28575522	A	C	28575522	3	2	379	1	0	0	0	0	1	0	0	0	5329	246	9	5	1948	5	EXTL3	8	28575522	Missense_Mutation	SNP	A	TCGA-BP-4963-01A-01D-1462-08	19827294	28575522	117788500	41	20994											
WHSC1L1	54904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38135924	38135924	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:38135924T>G	ENST00000317025.8	-	22	4284	c.3767A>C	c.(3766-3768)gAg>gCg	p.E1256A	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E1245A|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E1207A|RP11-513D5.5_ENST00000529325.1_RNA	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1256	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E1256A(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAATGTTAACTCCATCCCTGA	0.443			T	NUP98	AML																																		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	1	Substitution - Missense(1)	kidney(1)											43	45	44					8																	38135924		1906	4140	6046	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3767A>C	8.37:g.38135924T>G	ENSP00000313983:p.Glu1256Ala		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.905036	0.92035	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.94723	-3.5;-3.5;-3.5	5.59	5.59	0.84812	SET domain (3);	0.000000	0.48767	U	0.000166	D	0.98582	0.9526	H	0.99312	4.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.99640	1.0988	10	0.66056	D	0.02	.	15.7646	0.78117	0.0:0.0:0.0:1.0	.	1245;1207;1256	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	A	1207;1256;1193;1245	ENSP00000393284:E1207A;ENSP00000313983:E1256A;ENSP00000434730:E1245A	ENSP00000313983:E1256A	E	-	2	0	WHSC1L1	38255081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.139000	0.66308	0.477000	0.44152	GAG		0.443	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		G	38135924	T	G	38135924	3	3	379	1	0	0	0	0	1	0	0	0	17368	1551	54	5	558	5	WHSC1L1	8	38135924	Missense_Mutation	SNP	T	TCGA-BP-4963-01A-01D-1462-08	9560402	38135924	108228098	42	20995											
CHD7	55636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	61769234	61769234	+	Silent	SNP	T	T	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:61769234T>C	ENST00000423902.2	+	34	7874	c.7395T>C	c.(7393-7395)ttT>ttC	p.F2465F	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2465					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.F2465F(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTTCAAAGTTTATCTTGCCTA	0.423																																																2	Substitution - coding silent(2)	kidney(2)											166	161	162					8																	61769234		1879	4098	5977	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7395T>C	8.37:g.61769234T>C			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																				0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		C	61769234	T	C	61769234	2	2	379	1	0	0	0	0	0	0	0	1	3332	1751	61	3		3	CHD7	8	61769234	Silent	SNP	T	TCGA-BP-4963-01A-01D-1462-08	23633310	61769234	84594788	43	20996											
ZNF250	58500	hgsc.bcm.edu;ucsc.edu	37	8	146107815	146107816	+	Frame_Shift_Ins	INS	-	-	T	rs371435155		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:146107815_146107816insT	ENST00000292579.7	-	6	883_884	c.767_768insA	c.(766-768)gagfs	p.E256fs	ZNF250_ENST00000417550.2_Frame_Shift_Ins_p.E251fs|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		ACTCATTACACTCATAGGGCTT	0.48																																					NSCLC(16;520 556 24096 40084 43446)											0																																										SO:0001589	frameshift_variant	58500			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.768dupA	8.37:g.146107816_146107816dupT	ENSP00000292579:p.Glu256fs		D3DWP1|Q59HE9|Q8N942|Q96AH9	Frame_Shift_Ins	INS	ENST00000292579.7	37	CCDS34972.1																																																																																				0.48	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		T	146107816	-	T	146107815	7	5	379	1	0	1	1	0	0	0	0	0	17800	564	20	0	918	0	ZNF250	8	146107815	Frame_Shift_Ins	INS	-	TCGA-BP-4963-01A-01D-1462-08	84338581	146107815	256207	44	20997											
DOCK8	81704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	340260	340261	+	Missense_Mutation	DNP	CC	CC	AA	rs377334031		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr9:340260_340261CC>AA	ENST00000453981.1	+	14	1730_1731	c.1618_1619CC>AA	c.(1618-1620)CCg>AAg	p.P540K	DOCK8_ENST00000469391.1_Missense_Mutation_p.P472K|DOCK8_ENST00000432829.2_Missense_Mutation_p.P472K			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	540					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P472T(1)|p.P472Q(1)|p.P540>?(1)|p.P472>?(1)|p.P540Q(1)|p.P540T(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCGGACACGCCCGCACAAAGAG	0.495																																																6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	Exception_encountered	9.37:g.340260_340261delinsAA	ENSP00000408464:p.Pro540Lys		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2																																																																																				0.495	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		AA	340261	CC	AA	340260	3	1	379	1	0	0	0	0	1	0	0	0	4695	623	22	4	1672	4	DOCK8	9	340260	Missense_Mutation	DNP	CC	TCGA-BP-4963-01A-01D-1462-08		340260	140873171	45	20998											
PIP4K2A	5305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	22896899	22896899	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr10:22896899C>T	ENST00000376573.4	-	3	524	c.296G>A	c.(295-297)cGt>cAt	p.R99H	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R40H|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	99	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.R99H(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CCGCAGGTTACGGAAGACCAT	0.438																																																1	Substitution - Missense(1)	kidney(1)											97	89	92					10																	22896899		2203	4300	6503	SO:0001583	missense	5305			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.296G>A	10.37:g.22896899C>T	ENSP00000365757:p.Arg99His		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223468	0.95139	.	.	ENSG00000150867	ENST00000376573;ENST00000545335;ENST00000422321;ENST00000376565;ENST00000432610	T;T	0.52057	0.68;1.28	5.57	4.67	0.58626	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.117966	0.64402	D	0.000014	T	0.69378	0.3104	M	0.91140	3.18	0.80722	D	1	D	0.63046	0.992	P	0.55508	0.777	T	0.78401	-0.2218	10	0.87932	D	0	-8.3884	14.3982	0.67025	0.0:0.9291:0.0:0.0709	.	99	P48426	PI42A_HUMAN	H	99;40;51;58;51	ENSP00000365757:R99H;ENSP00000442098:R40H	ENSP00000365749:R58H	R	-	2	0	PIP4K2A	22936905	1.000000	0.71417	0.981000	0.43875	0.989000	0.77384	7.776000	0.85560	1.368000	0.46115	0.655000	0.94253	CGT		0.438	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		T	22896899	C	T	22896899	3	4	379	1	0	0	0	0	1	0	0	0	11938	536	19	1	956	1	PIP4K2A	10	22896899	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08		22896899	112637848	46	20999											
CLRN3	119467	hgsc.bcm.edu;ucsc.edu	37	10	129682022	129682023	+	Frame_Shift_Ins	INS	-	-	TGCG			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr10:129682022_129682023insTGCG	ENST00000368671.3	-	2	508_509	c.346_347insCGCA	c.(346-348)atcfs	p.I116fs		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	116						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGGGTTGCTGATGCTGTTGTAG	0.54																																																0																																										SO:0001589	frameshift_variant	119467			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"transmembrane protein 12"	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.346_347insCGCA	10.37:g.129682022_129682023insTGCG	ENSP00000357660:p.Ile116fs		Q6MZX8	Frame_Shift_Ins	INS	ENST00000368671.3	37	CCDS7656.1																																																																																				0.54	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311		TGCG	129682023	-	TGCG	129682022	7	5	379	1	0	1	1	0	0	0	0	0	3561	333	12	0	341	0	CLRN3	10	129682022	Frame_Shift_Ins	INS	-	TCGA-BP-4963-01A-01D-1462-08	106785123	129682022	5852725	47	21000											
MS4A12	54860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60265040	60265040	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr11:60265040C>A	ENST00000016913.4	+	2	306	c.249C>A	c.(247-249)aaC>aaA	p.N83K	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.N83K	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	83						integral component of membrane (GO:0016021)		p.N83K(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CAGTAATGAACTTTAAAGAAG	0.388																																																1	Substitution - Missense(1)	kidney(1)											49	49	49					11																	60265040		2203	4300	6503	SO:0001583	missense	54860			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.249C>A	11.37:g.60265040C>A	ENSP00000016913:p.Asn83Lys		F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	C	0.107	-1.143453	0.01728	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913;ENST00000530007	T;T;T;T	0.54675	1.49;0.56;3.53;0.91	4.57	-2.42	0.06542	.	.	.	.	.	T	0.31513	0.0799	L	0.29908	0.895	0.09310	N	1	B;B	0.20550	0.046;0.027	B;B	0.24974	0.057;0.014	T	0.23119	-1.0197	9	0.24483	T	0.36	.	1.068	0.01615	0.1417:0.2464:0.3161:0.2958	.	83;83	E9PNI3;Q9NXJ0	.;M4A12_HUMAN	K	83	ENSP00000440424:N83K;ENSP00000431959:N83K;ENSP00000016913:N83K;ENSP00000434783:N83K	ENSP00000016913:N83K	N	+	3	2	MS4A12	60021616	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-2.097000	0.01348	-0.605000	0.05753	0.462000	0.41574	AAC		0.388	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			A	60265040	C	A	60265040	3	1	379	1	0	0	0	0	1	0	0	0	9858	564	20	4	251	4	MS4A12	11	60265040	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08		60265040	74741476	48	21001											
PRPF19	27339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60658695	60658695	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr11:60658695G>A	ENST00000227524.4	-	16	1663	c.1458C>T	c.(1456-1458)caC>caT	p.H486H		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.H486H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGAACTTGGCGTGATGCCCGA	0.542																																																1	Substitution - coding silent(1)	kidney(1)											82	69	73					11																	60658695		2203	4299	6502	SO:0001819	synonymous_variant	27339			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1458C>T	11.37:g.60658695G>A				Silent	SNP	ENST00000227524.4	37	CCDS7995.1																																																																																				0.542	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		A	60658695	G	A	60658695	2	1	379	1	0	0	0	0	0	0	0	1	12569	1136	40	1		1	PRPF19	11	60658695	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08	393655	60658695	74347821	49	21002											
PAK1	5058	hgsc.bcm.edu	37	11	77103527	77103528	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr11:77103527_77103528insG	ENST00000356341.3	-	2	569_570	c.38_39insC	c.(37-39)ccafs	p.P13fs	PAK1_ENST00000530617.1_Frame_Shift_Ins_p.P13fs|PAK1_ENST00000278568.4_Frame_Shift_Ins_p.P13fs|PAK1_ENST00000528203.1_Intron	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	13					actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TCGGAGGGGCTGGGGGTTTGTC	0.446																																																0																																										SO:0001589	frameshift_variant	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.39dupC	11.37:g.77103532_77103532dupG	ENSP00000348696:p.Pro13fs		O75561|Q13567|Q32M53|Q32M54|Q86W79	Frame_Shift_Ins	INS	ENST00000356341.3	37	CCDS8250.1																																																																																				0.446	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		G	77103528	-	G	77103527	7	5	379	1	0	1	1	0	0	0	0	0	11401	1567	55	0	1707	0	PAK1	11	77103527	Frame_Shift_Ins	INS	-	TCGA-BP-4963-01A-01D-1462-08	16444832	77103527	57902989	50	21003											
OR8G5	219865	hgsc.bcm.edu	37	11	124134972	124134973	+	Frame_Shift_Ins	INS	-	-	T	rs138744250		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr11:124134972_124134973insT	ENST00000524943.2	+	1	250_251	c.250_251insT	c.(250-252)attfs	p.I84fs	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		GATCACACTGATTGGGCTCAGT	0.51																																					Ovarian(169;523 1969 8640 31295 51256)											0																																										SO:0001589	frameshift_variant	219865			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.252dupT	11.37:g.124134974_124134974dupT	ENSP00000477014:p.Ile84fs		B2RND3|Q6IEU6	Frame_Shift_Ins	INS	ENST00000524943.2	37																																																																																					0.51	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198		T	124134973	-	T	124134972	7	5	379	1	0	1	1	0	0	0	0	0	11238	333	12	0	252	0	OR8G5	11	124134972	Frame_Shift_Ins	INS	-	TCGA-BP-4963-01A-01D-1462-08	47031445	124134972	10871544	51	21004											
LPCAT3	10162	hgsc.bcm.edu;ucsc.edu	37	12	7090193	7090193	+	Missense_Mutation	SNP	A	A	C	rs1984564	byFrequency	TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr12:7090193A>C	ENST00000261407.4	-	6	735	c.650T>G	c.(649-651)aTt>aGt	p.I217S	LPCAT3_ENST00000535021.1_5'UTR|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	217			I -> T (in dbSNP:rs1984564).		glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TGGTATGTCAATCAGCTCTCC	0.478																																																0													158	154	156					12																	7090193		2203	4300	6503	SO:0001583	missense	10162			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.650T>G	12.37:g.7090193A>C	ENSP00000261407:p.Ile217Ser		B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437683	0.25900	.	.	ENSG00000111684	ENST00000261407	T	0.71461	-0.57	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.56934	0.2019	N	0.19112	0.55	0.43214	P	0.0049200000000000355	B	0.02656	0.0	B	0.01281	0.0	T	0.58255	-0.7668	9	0.24483	T	0.36	-16.3892	15.2962	0.73910	0.0668:0.0:0.9332:0.0	.	217	Q6P1A2	MBOA5_HUMAN	S	217	ENSP00000261407:I217S	ENSP00000261407:I217S	I	-	2	0	LPCAT3	6960454	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.949000	0.63596	1.508000	0.48769	-0.119000	0.15052	ATT		0.478	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		C	7090193	A	C	7090193	3	2	379	1	0	0	0	0	1	0	0	0	8914	101	4	5	841	5	LPCAT3	12	7090193	Missense_Mutation	SNP	A	TCGA-BP-4963-01A-01D-1462-08		7090193	126761702	52	21005											
CLSTN3	9746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7301668	7301668	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr12:7301668C>A	ENST00000266546.6	+	13	2398	c.1948C>A	c.(1948-1950)Cat>Aat	p.H650N	CLSTN3_ENST00000537408.1_Missense_Mutation_p.H662N	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	650					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.H650N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGGCACTGCTCATTTTGCCCG	0.582																																																1	Substitution - Missense(1)	kidney(1)											85	68	74					12																	7301668		2203	4300	6503	SO:0001583	missense	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1948C>A	12.37:g.7301668C>A	ENSP00000266546:p.His650Asn		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.579083	0.65878	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.32753	1.44;1.44	5.56	5.56	0.83823	.	0.052276	0.85682	D	0.000000	T	0.32556	0.0833	L	0.46157	1.445	0.80722	D	1	P;B	0.43477	0.808;0.112	B;B	0.39706	0.307;0.097	T	0.05209	-1.0899	10	0.44086	T	0.13	-18.8984	19.5349	0.95247	0.0:1.0:0.0:0.0	.	662;650	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	N	650;662	ENSP00000266546:H650N;ENSP00000440679:H662N	ENSP00000266546:H650N	H	+	1	0	CLSTN3	7192935	1.000000	0.71417	0.964000	0.40570	0.945000	0.59286	6.089000	0.71384	2.618000	0.88619	0.561000	0.74099	CAT		0.582	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		A	7301668	C	A	7301668	3	1	379	1	0	0	0	0	1	0	0	0	3565	826	29	4	1998	4	CLSTN3	12	7301668	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08	211475	7301668	126550227	53	21006											
STYK1	55359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10772767	10772767	+	Silent	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr12:10772767G>C	ENST00000075503.3	-	11	1765	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	415						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L415L(2)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGTTGTAGAAGAGGCTCTCCA	0.453										HNSCC(73;0.22)																																						2	Substitution - coding silent(2)	kidney(1)|skin(1)											150	146	147					12																	10772767		2203	4300	6503	SO:0001819	synonymous_variant	55359			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1245C>G	12.37:g.10772767G>C			B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Silent	SNP	ENST00000075503.3	37	CCDS8629.1																																																																																				0.453	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		C	10772767	G	C	10772767	2	2	379	1	0	0	0	0	0	0	0	1	15364	929	33	4		4	STYK1	12	10772767	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08	3471099	10772767	123079128	54	21007											
ALG10	84920	broad.mit.edu;hgsc.bcm.edu	37	12	34178892	34178892	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr12:34178892G>A	ENST00000266483.2	+	3	783	c.464G>A	c.(463-465)gGa>gAa	p.G155E	AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	155					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.G155E(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				ACAGAAGCAGGATCTATGTTT	0.353																																																1	Substitution - Missense(1)	kidney(1)											142	146	145					12																	34178892		2203	4299	6502	SO:0001583	missense	84920			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"derepression of ITR1 expression 2 homolog (S. cerevisiae)", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"	603313	"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)", "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.464G>A	12.37:g.34178892G>A	ENSP00000266483:p.Gly155Glu		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534283	0.64972	.	.	ENSG00000139133	ENST00000266483	T	0.55413	0.52	3.13	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73553	-0.3946	10	0.30854	T	0.27	.	12.1223	0.53897	0.0:0.0:1.0:0.0	.	155	Q5BKT4	AG10A_HUMAN	E	155	ENSP00000266483:G155E	ENSP00000266483:G155E	G	+	2	0	ALG10	34070159	1.000000	0.71417	0.985000	0.45067	0.863000	0.49368	9.431000	0.97494	1.492000	0.48499	0.184000	0.17185	GGA		0.353	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		A	34178892	G	A	34178892	3	1	379	1	0	0	0	0	1	0	0	0	511	1174	41	2	474	2	ALG10	12	34178892	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	23406125	34178892	99673003	55	21008											
FBXW8	26259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117448166	117448167	+	Missense_Mutation	DNP	GA	GA	AC			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr12:117448166_117448167GA>AC	ENST00000309909.5	+	8	1360_1361	c.1278_1279GA>AC	c.(1276-1281)ttGAag>ttACag	p.K427Q	FBXW8_ENST00000455858.2_Missense_Mutation_p.K361Q			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	427					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)		p.K427Q(1)|p.L426L(1)|p.L426>?(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GCCGCCTCTTGAAGCTGGGTAA	0.55																																																3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	Exception_encountered	12.37:g.117448166_117448167delinsAC	ENSP00000310686:p.Lys427Gln		Q9UK95	Silent|Missense_Mutation	SNP	ENST00000309909.5	37	CCDS9182.1																																																																																				0.55	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		AC	117448167	GA	AC	117448166	3	1	379	1	0	0	0	0	1	0	0	0	5772	1281	45	2	1308	2	FBXW8	12	117448166	Missense_Mutation	DNP	GA	TCGA-BP-4963-01A-01D-1462-08	83269274	117448166	16403729	56	21009											
BRCA2	675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32911477	32911477	+	Silent	SNP	A	A	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr13:32911477A>T	ENST00000380152.3	+	11	3218	c.2985A>T	c.(2983-2985)ggA>ggT	p.G995G	BRCA2_ENST00000544455.1_Silent_p.G995G			P51587	BRCA2_HUMAN	breast cancer 2, early onset	995	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.G995G(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATGGGCAGGACTCTTAGGTC	0.323			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	2	Substitution - coding silent(2)	kidney(2)											52	58	56					13																	32911477		2203	4294	6497	SO:0001819	synonymous_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2985A>T	13.37:g.32911477A>T			O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	CCDS9344.1																																																																																				0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		T	32911477	A	T	32911477	2	4	379	1	0	0	0	0	0	0	0	1	1501	262	10	5		5	BRCA2	13	32911477	Silent	SNP	A	TCGA-BP-4963-01A-01D-1462-08		32911477	82258401	57	21010											
ATP7B	540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	52539139	52539139	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr13:52539139G>T	ENST00000242839.4	-	5	1894	c.1738C>A	c.(1738-1740)Cac>Aac	p.H580N	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.H580N|ATP7B_ENST00000400366.3_Missense_Mutation_p.H469N|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.H580N|ATP7B_ENST00000344297.5_Missense_Mutation_p.H580N	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	580	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.H580N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCTATGTTGTGGACACAGGAC	0.517									Wilson disease																																							1	Substitution - Missense(1)	kidney(1)											89	91	90					13																	52539139		2057	4209	6266	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1738C>A	13.37:g.52539139G>T	ENSP00000242839:p.His580Asn		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610460	0.87258	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.95	5.1	0.69264	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.80571	0.4648	N	0.01789	-0.72	0.80722	D	1	D;P;D;B;D;P	0.76494	0.98;0.584;0.999;0.345;0.995;0.849	D;B;D;P;D;D	0.97110	0.982;0.44;1.0;0.452;0.96;0.924	T	0.81651	-0.0836	10	0.25106	T	0.35	-23.8462	15.5679	0.76309	0.0669:0.0:0.9331:0.0	.	580;580;580;469;580;580	E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;ATP7B_HUMAN	N	580;469;580;580;580	ENSP00000242839:H580N;ENSP00000383217:H469N;ENSP00000342559:H580N;ENSP00000416738:H580N;ENSP00000393343:H580N	ENSP00000242839:H580N	H	-	1	0	ATP7B	51437140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.583000	0.82559	2.824000	0.97209	0.655000	0.94253	CAC		0.517	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		T	52539139	G	T	52539139	3	4	379	1	0	0	0	0	1	0	0	0	1191	1348	47	4	2727	4	ATP7B	13	52539139	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	19627662	52539139	62630739	58	21011											
EDDM3B	64184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21238699	21238699	+	Silent	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr14:21238699C>T	ENST00000326783.3	+	2	488	c.390C>T	c.(388-390)gaC>gaT	p.D130D		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	130						extracellular region (GO:0005576)		p.D130D(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GTAGCATGGACGGGTATGTTG	0.413																																																1	Substitution - coding silent(1)	kidney(1)											87	76	80					14																	21238699		2203	4300	6503	SO:0001819	synonymous_variant	64184			X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"family with sequence similarity 12, member B (epididymal)"	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.390C>T	14.37:g.21238699C>T			A0PK89	Silent	SNP	ENST00000326783.3	37	CCDS9557.1																																																																																				0.413	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073745.2			T	21238699	C	T	21238699	2	4	379	1	0	0	0	0	0	0	0	1	4912	535	19	1		1	EDDM3B	14	21238699	Silent	SNP	C	TCGA-BP-4963-01A-01D-1462-08		21238699	86110841	59	21012											
NUMB	8650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	73746101	73746101	+	Silent	SNP	A	A	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr14:73746101A>G	ENST00000355058.3	-	12	1406	c.1128T>C	c.(1126-1128)ctT>ctC	p.L376L	NUMB_ENST00000535282.1_Silent_p.L365L|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Intron|NUMB_ENST00000554546.1_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000557597.1_Silent_p.L365L|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000555238.1_Silent_p.L376L|NUMB_ENST00000556772.1_Silent_p.L232L|NUMB_ENST00000356296.4_Intron|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000359560.3_Silent_p.L365L|NUMB_ENST00000559312.1_Intron			P49757	NUMB_HUMAN	numb homolog (Drosophila)	376					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L376L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CTGGCTTAGCAAGCACATGGA	0.527																																																1	Substitution - coding silent(1)	kidney(1)											116	94	101					14																	73746101		2203	4300	6503	SO:0001819	synonymous_variant	8650			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1128T>C	14.37:g.73746101A>G			B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	ENST00000355058.3	37	CCDS32116.1																																																																																				0.527	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			G	73746101	A	G	73746101	2	3	379	1	0	0	0	0	0	0	0	1	10753	117	5	3		3	NUMB	14	73746101	Silent	SNP	A	TCGA-BP-4963-01A-01D-1462-08	52507402	73746101	33603439	60	21013											
GPR65	8477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	88477438	88477438	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr14:88477438T>G	ENST00000267549.3	+	2	805	c.247T>G	c.(247-249)Tct>Gct	p.S83A	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	83					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S83A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGGACTTTCTCTCCTGCCTT	0.408																																																1	Substitution - Missense(1)	kidney(1)											185	181	182					14																	88477438		2203	4300	6503	SO:0001583	missense	8477			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"GPCR / Class A : Orphans"	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.247T>G	14.37:g.88477438T>G	ENSP00000267549:p.Ser83Ala		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562902	0.65538	.	.	ENSG00000140030	ENST00000267549	T	0.44083	0.93	5.82	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.377652	0.22584	N	0.058172	T	0.47507	0.1449	M	0.82323	2.585	0.27843	N	0.941011	P	0.35192	0.489	B	0.39379	0.298	T	0.51818	-0.8657	10	0.87932	D	0	.	7.7612	0.28953	0.0:0.0748:0.1376:0.7876	.	83	Q8IYL9	PSYR_HUMAN	A	83	ENSP00000267549:S83A	ENSP00000267549:S83A	S	+	1	0	GPR65	87547191	1.000000	0.71417	0.944000	0.38274	0.915000	0.54546	3.541000	0.53618	1.007000	0.39238	0.528000	0.53228	TCT		0.408	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			G	88477438	T	G	88477438	3	3	379	1	0	0	0	0	1	0	0	0	6708	1551	54	5	249	5	GPR65	14	88477438	Missense_Mutation	SNP	T	TCGA-BP-4963-01A-01D-1462-08	14731337	88477438	18872102	61	21014											
DUOX1	53905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45454451	45454451	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr15:45454451A>T	ENST00000321429.4	+	32	4531	c.4124A>T	c.(4123-4125)cAg>cTg	p.Q1375L	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.Q1021L|DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1375L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1375	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.Q1375L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GAGGGCCACCAGGAGTGGCAT	0.542																																																1	Substitution - Missense(1)	kidney(1)											121	102	108					15																	45454451		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4124A>T	15.37:g.45454451A>T	ENSP00000317997:p.Gln1375Leu		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410784	0.83340	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.87103	-2.21;-2.21	4.23	4.23	0.50019	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	M	0.92268	3.29	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	D	0.94834	0.7999	10	0.87932	D	0	-25.7778	11.5699	0.50829	1.0:0.0:0.0:0.0	.	1375	Q9NRD9	DUOX1_HUMAN	L	1375	ENSP00000317997:Q1375L;ENSP00000373689:Q1375L	ENSP00000317997:Q1375L	Q	+	2	0	DUOX1	43241743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.076000	0.94009	1.903000	0.55091	0.459000	0.35465	CAG		0.542	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		T	45454451	A	T	45454451	3	4	379	1	0	0	0	0	1	0	0	0	4802	188	7	5	4242	5	DUOX1	15	45454451	Missense_Mutation	SNP	A	TCGA-BP-4963-01A-01D-1462-08		45454451	57076941	62	21015											
FBN1	2200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48779393	48779393	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr15:48779393G>A	ENST00000316623.5	-	29	3923	c.3468C>T	c.(3466-3468)atC>atT	p.I1156I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1156	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I1156I(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACATTCATTGATGTCTGTCG	0.458																																																1	Substitution - coding silent(1)	kidney(1)											84	78	80					15																	48779393		2198	4296	6494	SO:0001819	synonymous_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3468C>T	15.37:g.48779393G>A			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.458	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			A	48779393	G	A	48779393	2	1	379	1	0	0	0	0	0	0	0	1	5704	1280	45	2		2	FBN1	15	48779393	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08	3324942	48779393	53751999	63	21016											
UNC13C	440279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	54626051	54626051	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr15:54626051G>A	ENST00000260323.11	+	15	4581	c.4581G>A	c.(4579-4581)atG>atA	p.M1527I	UNC13C_ENST00000545554.1_Missense_Mutation_p.M1527I|UNC13C_ENST00000537900.1_Missense_Mutation_p.M1525I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1527					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.M1527I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTTAGGATGAAGGTATCTC	0.373																																																2	Substitution - Missense(2)	kidney(2)											133	120	124					15																	54626051		1852	4078	5930	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4581G>A	15.37:g.54626051G>A	ENSP00000260323:p.Met1527Ile		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856356	0.71834	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80653	-1.4;-1.4;-1.4	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.82486	0.5047	M	0.74881	2.28	0.80722	D	1	B;B	0.29232	0.238;0.044	B;B	0.32864	0.154;0.022	T	0.81854	-0.0741	10	0.72032	D	0.01	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	1527;1527	F5H090;Q8NB66	.;UN13C_HUMAN	I	1527;1527;1525	ENSP00000260323:M1527I;ENSP00000438156:M1527I;ENSP00000442569:M1525I	ENSP00000260323:M1527I	M	+	3	0	UNC13C	52413343	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.575000	0.98187	2.826000	0.97356	0.655000	0.94253	ATG		0.373	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		A	54626051	G	A	54626051	3	1	379	1	0	0	0	0	1	0	0	0	16991	1290	45	2	4635	2	UNC13C	15	54626051	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	5846658	54626051	47905341	64	21017											
LRRK1	79705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	101597210	101597210	+	Silent	SNP	A	A	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr15:101597210A>T	ENST00000388948.3	+	28	4841	c.4482A>T	c.(4480-4482)cgA>cgT	p.R1494R	LRRK1_ENST00000284395.5_Silent_p.R1491R|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.R1506R(1)|p.R1494R(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGTTCCGGCGACTGCAGGCGC	0.637																																																2	Substitution - coding silent(2)	kidney(2)											65	75	72					15																	101597210		2003	4170	6173	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4482A>T	15.37:g.101597210A>T				Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																				0.637	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101597210	A	T	101597210	2	4	379	1	0	0	0	0	0	0	0	1	9034	262	10	5		5	LRRK1	15	101597210	Silent	SNP	A	TCGA-BP-4963-01A-01D-1462-08	46971159	101597210	934182	65	21018											
PIGQ	9091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	633428	633428	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr16:633428G>T	ENST00000026218.5	+	10	2165	c.2077G>T	c.(2077-2079)Ggc>Tgc	p.G693C	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	693					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.G693C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCTCCCCAGTGGCTCTGCCCT	0.682																																																1	Substitution - Missense(1)	kidney(1)											32	36	34					16																	633428		2201	4299	6500	SO:0001583	missense	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.2077G>T	16.37:g.633428G>T	ENSP00000026218:p.Gly693Cys		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	8.942	0.966095	0.18659	.	.	ENSG00000007541	ENST00000026218	T	0.26518	1.73	2.35	-1.83	0.07833	.	.	.	.	.	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	D;P	0.65815	0.995;0.9	P;B	0.59012	0.85;0.129	T	0.10520	-1.0626	8	.	.	.	.	2.7502	0.05279	0.3055:0.0:0.4595:0.235	.	263;693	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	C	693	ENSP00000026218:G693C	.	G	+	1	0	PIGQ	573429	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.250000	0.02885	-0.483000	0.06772	0.449000	0.29647	GGC		0.682	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		T	633428	G	T	633428	3	4	379	1	0	0	0	0	1	0	0	0	11898	1348	47	4	2177	4	PIGQ	16	633428	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08		633428	89721325	66	21019											
RTN4RL1	146760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1840903	1840903	+	Silent	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:1840903G>T	ENST00000331238.6	-	2	692	c.213C>A	c.(211-213)ccC>ccA	p.P71P		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1									p.P71P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGAAGTGGCCGGGCTGGAGGA	0.637																																					GBM(68;949 1139 14865 32798 38342)											1	Substitution - coding silent(1)	kidney(1)											62	77	72					17																	1840903		2187	4271	6458	SO:0001819	synonymous_variant	146760			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.213C>A	17.37:g.1840903G>T				Silent	SNP	ENST00000331238.6	37	CCDS45569.1																																																																																				0.637	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		T	1840903	G	T	1840903	2	4	379	1	0	0	0	0	0	0	0	1	13737	1103	39	4		4	RTN4RL1	17	1840903	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08		1840903	79354307	67	21020											
EPN2	22905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	19186717	19186717	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:19186717G>A	ENST00000314728.5	+	3	769	c.285G>A	c.(283-285)caG>caA	p.Q95Q	EPN2_ENST00000395626.1_Silent_p.Q95Q|EPN2_ENST00000395620.2_Silent_p.Q95Q|EPN2_ENST00000571254.1_Silent_p.Q95Q|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000347697.2_Silent_p.Q95Q	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	95	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.Q95Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TGGCCCAGCAGTGCCGGGAGA	0.567																																																1	Substitution - coding silent(1)	kidney(1)											95	75	82					17																	19186717		2203	4300	6503	SO:0001819	synonymous_variant	22905			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.285G>A	17.37:g.19186717G>A			A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Silent	SNP	ENST00000314728.5	37	CCDS11203.1																																																																																				0.567	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		A	19186717	G	A	19186717	2	1	379	1	0	0	0	0	0	0	0	1	5188	1020	36	2		2	EPN2	17	19186717	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08	17345814	19186717	62008493	68	21021											
NLK	51701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26449740	26449740	+	Silent	SNP	T	T	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:26449740T>C	ENST00000407008.3	+	2	1288	c.570T>C	c.(568-570)tgT>tgC	p.C190C		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	190	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.C190C(2)|p.C178C(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGTTGTGTTTTTTTAAGC	0.388																																																4	Substitution - coding silent(4)	large_intestine(2)|kidney(2)											143	142	142					17																	26449740		2203	4300	6503	SO:0001819	synonymous_variant	51701			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.570T>C	17.37:g.26449740T>C			B2RCX1|Q2PNI9|Q6P2A3	Silent	SNP	ENST00000407008.3	37	CCDS11224.2																																																																																				0.388	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		C	26449740	T	C	26449740	2	2	379	1	0	0	0	0	0	0	0	1	10468	1731	60	3		3	NLK	17	26449740	Silent	SNP	T	TCGA-BP-4963-01A-01D-1462-08	7263023	26449740	54745470	69	21022											
ACCN1	40	hgsc.bcm.edu;ucsc.edu	37	17	31438954	31438961	+	Frame_Shift_Del	DEL	CAGGTACT	CAGGTACT	-	rs145139925|rs139598307	byFrequency	TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	CAGGTACT	CAGGTACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:31438954_31438961delCAGGTACT	ENST00000359872.6	-	2	1441_1448	c.680_687delAGTACCTG	c.(679-687)gagtacctgfs	p.EYL227fs	ASIC2_ENST00000225823.2_Frame_Shift_Del_p.EYL278fs|ASIC2_ENST00000448983.1_5'UTR|RP11-40A13.1_ENST00000584688.1_RNA	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	227					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCCAGATGGGCAGGTACTCATCCTGCTG	0.587																																																0																																										SO:0001589	frameshift_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.680_687delAGTACCTG	17.37:g.31438954_31438961delCAGGTACT	ENSP00000352934:p.Glu227fs		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Del	DEL	ENST00000359872.6	37	CCDS42296.1																																																																																				0.587	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		-	31438961	CAGGTACT	-	31438954	7	5	379	1	0	1	0	1	0	0	0	0	128	697	25	0	887	0	ACCN1	17	31438954	Frame_Shift_Del	DEL	CAGGTACT	TCGA-BP-4963-01A-01D-1462-08	4989214	31438954	49756256	70	21023											
KRT36	8689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39643672	39643672	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:39643672C>A	ENST00000328119.6	-	5	917	c.918G>T	c.(916-918)caG>caT	p.Q306H	KRT36_ENST00000393986.2_Missense_Mutation_p.Q256H	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	306	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)	p.Q306H(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGATCTCCGTCTGGCAGCACT	0.607																																																1	Substitution - Missense(1)	kidney(1)											74	56	62					17																	39643672		2203	4300	6503	SO:0001583	missense	8689			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.918G>T	17.37:g.39643672C>A	ENSP00000329165:p.Gln306His		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070124	0.76301	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.89415	-2.51;-2.51	6.07	6.07	0.98685	Filament (1);	0.000000	0.48286	D	0.000197	D	0.93858	0.8035	M	0.81682	2.555	0.30278	N	0.791593	P	0.45011	0.848	P	0.58391	0.838	D	0.92252	0.5809	10	0.87932	D	0	.	15.8746	0.79151	0.0:0.7645:0.2355:0.0	.	306	O76013	KRT36_HUMAN	H	256;306	ENSP00000377555:Q256H;ENSP00000329165:Q306H	ENSP00000329165:Q306H	Q	-	3	2	KRT36	36897198	0.067000	0.21026	0.995000	0.50966	0.991000	0.79684	0.853000	0.27777	2.884000	0.98904	0.655000	0.94253	CAG		0.607	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		A	39643672	C	A	39643672	3	1	379	1	0	0	0	0	1	0	0	0	8475	912	32	4	497	4	KRT36	17	39643672	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08	8204718	39643672	41551538	71	21024											
GPATCH8	23131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42477630	42477630	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:42477630G>A	ENST00000591680.1	-	8	1845	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G	GPATCH8_ENST00000434000.1_Silent_p.G527G	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	605							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G605G(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CAGGATCTAGGCCTTGGAGAT	0.448											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											45	47	46					17																	42477630		2203	4300	6503	SO:0001819	synonymous_variant	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1815C>T	17.37:g.42477630G>A		909	B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	CCDS32666.1																																																																																				0.448	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		A	42477630	G	A	42477630	2	1	379	1	0	0	0	0	0	0	0	1	6596	1190	42	2		2	GPATCH8	17	42477630	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08	2833958	42477630	38717580	72	21025											
KIAA1267	284058	hgsc.bcm.edu;ucsc.edu	37	17	44144984	44144984	+	Frame_Shift_Del	DEL	C	C	-	rs587670960		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:44144984delC	ENST00000262419.6	-	5	2053	c.1583delG	c.(1582-1584)ggtfs	p.G528fs	KANSL1_ENST00000574590.1_Frame_Shift_Del_p.G528fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.G528fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.G528fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.G528fs|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	528					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGAAATATGACCAATAATACG	0.398																																																0													106	96	99					17																	44144984		2203	4300	6503	SO:0001589	frameshift_variant	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1583delG	17.37:g.44144984delC	ENSP00000262419:p.Gly528fs		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	ENST00000262419.6	37	CCDS11503.1																																																																																				0.398	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		-	44144984	C	-	44144984	7	5	379	1	0	1	0	1	0	0	0	0	8221	507	18	0	1778	0	KIAA1267	17	44144984	Frame_Shift_Del	DEL	C	TCGA-BP-4963-01A-01D-1462-08	1667354	44144984	37050226	73	21026											
CCDC47	57003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61841511	61841511	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:61841511G>C	ENST00000225726.5	-	4	794	c.412C>G	c.(412-414)Cta>Gta	p.L138V	CCDC47_ENST00000582252.1_Missense_Mutation_p.L138V|CCDC47_ENST00000403162.3_Missense_Mutation_p.L138V	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	138					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L138V(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AAAATTTCTAGATAATAACTC	0.393																																																1	Substitution - Missense(1)	kidney(1)											110	110	110					17																	61841511		2203	4300	6503	SO:0001583	missense	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.412C>G	17.37:g.61841511G>C	ENSP00000225726:p.Leu138Val		B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.934041	0.34096	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	6.08	3.99	0.46301	.	0.042044	0.85682	D	0.000000	T	0.29684	0.0741	N	0.11023	0.085	0.43678	D	0.996116	B;B	0.26147	0.143;0.015	B;B	0.28638	0.092;0.02	T	0.09015	-1.0694	9	0.26408	T	0.33	-8.6853	6.8461	0.23988	0.0892:0.0:0.5857:0.3252	.	138;138	Q96A33-2;Q96A33	.;CCD47_HUMAN	V	138	.	ENSP00000225726:L138V	L	-	1	2	CCDC47	59195243	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	3.808000	0.55598	1.579000	0.49836	0.591000	0.81541	CTA		0.393	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		C	61841511	G	C	61841511	3	2	379	1	0	0	0	0	1	0	0	0	2820	933	33	4	1079	4	CCDC47	17	61841511	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	17696527	61841511	19353699	74	21027											
TNRC6C	57690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76046332	76046332	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:76046332G>A	ENST00000588061.1	+	5	1916	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	TNRC6C_ENST00000335749.4_Missense_Mutation_p.E397K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.E397K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.E397K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.E397K|TNRC6C_ENST00000588847.1_Missense_Mutation_p.E397K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	397	Gly-rich.|Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E397K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TACAGCAAGTGAAGGAAGTAG	0.532																																																2	Substitution - Missense(2)	kidney(2)											68	69	68					17																	76046332		1981	4179	6160	SO:0001583	missense	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1189G>A	17.37:g.76046332G>A	ENSP00000468647:p.Glu397Lys		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192819	0.58017	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.3	5.3	0.74995	.	0.250251	0.34156	N	0.004214	T	0.28699	0.0711	M	0.65498	2.005	0.58432	D	0.999999	P;P;P	0.44429	0.763;0.835;0.682	B;P;B	0.48334	0.163;0.574;0.141	T	0.02371	-1.1169	10	0.13108	T	0.6	-4.9224	19.1532	0.93499	0.0:0.0:1.0:0.0	.	397;397;397	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	K	397	ENSP00000336783:E397K;ENSP00000301624:E397K;ENSP00000440310:E397K;ENSP00000442421:E397K	ENSP00000301624:E397K	E	+	1	0	TNRC6C	73557927	1.000000	0.71417	0.806000	0.32338	0.972000	0.66771	9.181000	0.94874	2.769000	0.95229	0.655000	0.94253	GAA		0.532	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		A	76046332	G	A	76046332	3	1	379	1	0	0	0	0	1	0	0	0	16347	1291	45	2	1191	2	TNRC6C	17	76046332	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	14204821	76046332	5148878	75	21028											
ASPSCR1	79058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79954308	79954308	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:79954308G>T	ENST00000306739.4	+	7	616	c.519G>T	c.(517-519)aaG>aaT	p.K173N	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.K96N|ASPSCR1_ENST00000306729.7_Missense_Mutation_p.K173N	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	173					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)		p.K173N(1)	ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TTGTCATGAAGTGCTACGACC	0.677			T	TFE3	alveolar soft part sarcoma																																		Dom	yes		17	17q25	79058	"alveolar soft part sarcoma chromosome region, candidate 1"		M	1	Substitution - Missense(1)	kidney(1)											31	32	32					17																	79954308		2203	4300	6503	SO:0001583	missense	79058			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.519G>T	17.37:g.79954308G>T	ENSP00000302176:p.Lys173Asn		A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	G	4.962	0.178776	0.09443	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.24723	1.84;1.84	4.18	3.21	0.36854	.	0.330170	0.34906	N	0.003592	T	0.40670	0.1126	M	0.81802	2.56	0.36981	D	0.894283	D;D;D;D	0.61697	0.989;0.99;0.964;0.979	P;P;P;P	0.54174	0.728;0.744;0.538;0.728	T	0.52786	-0.8529	10	0.72032	D	0.01	-22.908	8.194	0.31385	0.1115:0.0:0.8885:0.0	.	96;173;173;96	Q9BZE9-3;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;ASPC1_HUMAN;.	N	173;173;96	ENSP00000302176:K173N;ENSP00000306625:K173N	ENSP00000306625:K173N	K	+	3	2	ASPSCR1	77547597	0.969000	0.33509	0.763000	0.31416	0.066000	0.16364	1.891000	0.39738	1.126000	0.42016	0.555000	0.69702	AAG		0.677	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		T	79954308	G	T	79954308	3	4	379	1	0	0	0	0	1	0	0	0	1059	1020	36	4	545	4	ASPSCR1	17	79954308	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08	3907976	79954308	1240902	76	21029											
C18orf19	125228	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	13681730	13681730	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr18:13681730T>C	ENST00000322247.3	-	3	734	c.347A>G	c.(346-348)cAa>cGa	p.Q116R	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Missense_Mutation_p.Q116R	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	116						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.Q116R(1)									AGATTTGTCTTGCAAAGGATC	0.398																																																1	Substitution - Missense(1)	kidney(1)											130	134	133					18																	13681730		2203	4300	6503	SO:0001583	missense	0			AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 19"	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.347A>G	18.37:g.13681730T>C	ENSP00000323635:p.Gln116Arg		D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.856295	0.91355	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.25414	1.8;1.8	5.37	5.37	0.77165	.	0.053389	0.85682	D	0.000000	T	0.48333	0.1494	M	0.71581	2.175	0.58432	D	0.999998	D	0.76494	0.999	D	0.64144	0.922	T	0.48681	-0.9014	10	0.51188	T	0.08	-15.1636	15.3684	0.74541	0.0:0.0:0.0:1.0	.	116	Q96ND0	CR019_HUMAN	R	116	ENSP00000323635:Q116R;ENSP00000386115:Q116R	ENSP00000323635:Q116R	Q	-	2	0	C18orf19	13671730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.061000	0.71148	2.016000	0.59253	0.533000	0.62120	CAA		0.398	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		C	13681730	T	C	13681730	3	2	379	1	0	0	0	0	1	0	0	0	1898	1812	63	3	483	3	C18orf19	18	13681730	Missense_Mutation	SNP	T	TCGA-BP-4963-01A-01D-1462-08		13681730	64395518	77	21030											
AP3D1	8943	broad.mit.edu	37	19	2115366	2115366	+	Missense_Mutation	SNP	C	C	T	rs371117784		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:2115366C>T	ENST00000345016.5	-	20	2432	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q	AP3D1_ENST00000356926.4_Missense_Mutation_p.R643Q|AP3D1_ENST00000350812.6_Missense_Mutation_p.R565Q|AP3D1_ENST00000355272.6_Missense_Mutation_p.R734Q	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	734					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R734Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTTCTGCCGGTGCCGCCG	0.642																																																1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG,GLN/ARG	0,4078		0,0,2039	36	44	41		1928,2201	-0.5	1	19		41	2,8354		0,2,4176	no	missense,missense	AP3D1	NM_001077523.1,NM_003938.5	43,43	0,2,6215	TT,TC,CC		0.0239,0.0,0.0161	possibly-damaging,possibly-damaging	643/1113,734/1154	2115366	2,12432	2039	4178	6217	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2201G>A	19.37:g.2115366C>T	ENSP00000344055:p.Arg734Gln		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220423	0.39201	0.0	2.39E-4	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.62941	2.28;-0.01;1.53;-0.01	4.67	-0.523	0.11924	.	0.229367	0.41938	N	0.000783	T	0.41073	0.1143	L	0.42245	1.32	0.33621	D	0.604811	B;B;B	0.34015	0.086;0.435;0.276	B;B;B	0.28232	0.01;0.087;0.074	T	0.30736	-0.9968	10	0.27082	T	0.32	-25.6623	3.0195	0.06071	0.2062:0.2726:0.0:0.5212	.	734;734;643	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	Q	643;734;734;734;565	ENSP00000349398:R643Q;ENSP00000344055:R734Q;ENSP00000347416:R734Q;ENSP00000342321:R565Q	ENSP00000341579:R734Q	R	-	2	0	AP3D1	2066366	1.000000	0.71417	0.998000	0.56505	0.676000	0.39594	2.193000	0.42658	0.070000	0.16634	-0.448000	0.05591	CGG		0.642	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			T	2115366	C	T	2115366	3	4	379	1	0	0	0	0	1	0	0	0	746	652	23	1	1462	1	AP3D1	19	2115366	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08		2115366	57013617	78	21031											
SLC39A3	29985	hgsc.bcm.edu;ucsc.edu	37	19	2737131	2737131	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:2737131delT	ENST00000269740.4	-	2	454	c.125delA	c.(124-126)aagfs	p.K42fs	AC006538.4_ENST00000586572.1_Frame_Shift_Del_p.K42fs|SLC39A3_ENST00000455372.2_Frame_Shift_Del_p.K42fs|SLC39A3_ENST00000590875.1_5'Flank|SLC39A3_ENST00000545664.1_Frame_Shift_Del_p.K42fs	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	42					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGAGGATCTTTTTCGAGCG	0.562																																																0													116	100	106					19																	2737131		2203	4300	6503	SO:0001589	frameshift_variant	29985			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"Solute carriers"	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.125delA	19.37:g.2737131delT	ENSP00000269740:p.Lys42fs		B3KMJ3|Q8WUG1	Frame_Shift_Del	DEL	ENST00000269740.4	37	CCDS12093.1																																																																																				0.562	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			-	2737131	T	-	2737131	7	5	379	1	0	1	0	1	0	0	0	0	14625	1609	56	0	935	0	SLC39A3	19	2737131	Frame_Shift_Del	DEL	T	TCGA-BP-4963-01A-01D-1462-08	621765	2737131	56391852	79	21032											
VAV1	7409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6853050	6853050	+	Silent	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:6853050C>T	ENST00000602142.1	+	25	2374	c.2292C>T	c.(2290-2292)ccC>ccT	p.P764P	VAV1_ENST00000304076.2_Silent_p.P742P|VAV1_ENST00000539284.1_Silent_p.P667P|VAV1_ENST00000596764.1_Silent_p.P732P|VAV1_ENST00000599806.1_Silent_p.P709P	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	764	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P764P(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGCAGTTCCCCTTCAAGGAGC	0.542																																																1	Substitution - coding silent(1)	kidney(1)											86	79	81					19																	6853050		2203	4300	6503	SO:0001819	synonymous_variant	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2292C>T	19.37:g.6853050C>T			B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	CCDS12174.1																																																																																				0.542	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			T	6853050	C	T	6853050	2	4	379	1	0	0	0	0	0	0	0	1	17136	668	24	2		2	VAV1	19	6853050	Silent	SNP	C	TCGA-BP-4963-01A-01D-1462-08	4115919	6853050	52275933	80	21033											
SMARCA4	6597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11129632	11129632	+	Splice_Site	SNP	G	G	A	rs113895708		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:11129632G>A	ENST00000429416.3	+	18	2719		c.e18-1		SMARCA4_ENST00000413806.3_Splice_Site|SMARCA4_ENST00000590574.1_Splice_Site|SMARCA4_ENST00000358026.2_Splice_Site|SMARCA4_ENST00000450717.3_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000541122.2_Splice_Site|SMARCA4_ENST00000589677.1_Splice_Site|CTC-215O4.4_ENST00000587831.1_RNA	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGTTCCATCAGAACGCTGTCC	0.557			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	3	Unknown(3)	kidney(2)|lung(1)											182	155	164					19																	11129632		2203	4300	6503	SO:0001630	splice_region_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2439-1G>A	19.37:g.11129632G>A			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Splice_Site	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336840	0.60963	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1078	0.86668	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCA4	10990632	1.000000	0.71417	0.443000	0.26883	0.041000	0.13682	9.625000	0.98406	2.571000	0.86741	0.591000	0.81541	.		0.557	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	Intron	A	11129632	G	A	11129632	5	1	379	1	0	0	0	0	0	0	1	0	14776	956	33	2	2500	2	SMARCA4	19	11129632	Splice_Site	SNP	G	TCGA-BP-4963-01A-01D-1462-08	4276582	11129632	47999351	81	21034											
EMR3	84658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14740973	14740973	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:14740973T>A	ENST00000253673.5	-	14	1790	c.1690A>T	c.(1690-1692)Aca>Tca	p.T564S	EMR3_ENST00000599900.1_Missense_Mutation_p.T349S|EMR3_ENST00000344373.4_Missense_Mutation_p.T512S|EMR3_ENST00000443157.2_Missense_Mutation_p.T438S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	564					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T564S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGACACCATGTGCAGCCCAGG	0.502																																																1	Substitution - Missense(1)	kidney(1)											99	86	91					19																	14740973		2203	4300	6503	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1690A>T	19.37:g.14740973T>A	ENSP00000253673:p.Thr564Ser			Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.005182	0.35415	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.48201	0.82;0.82;0.82	3.76	3.76	0.43208	GPCR, family 2-like (1);	.	.	.	.	T	0.48447	0.1500	N	0.20304	0.555	0.32996	D	0.525614	D;D;B	0.69078	0.995;0.997;0.384	P;D;B	0.69824	0.893;0.966;0.272	T	0.52170	-0.8611	9	0.22109	T	0.4	.	10.7634	0.46279	0.0:0.0:0.0:1.0	.	438;512;564	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	S	438;564;512	ENSP00000396208:T438S;ENSP00000253673:T564S;ENSP00000340758:T512S	ENSP00000253673:T564S	T	-	1	0	EMR3	14601973	1.000000	0.71417	0.989000	0.46669	0.175000	0.22909	6.542000	0.73869	1.700000	0.51204	0.533000	0.62120	ACA		0.502	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		A	14740973	T	A	14740973	3	1	379	1	0	0	0	0	1	0	0	0	5108	1696	59	5	280	5	EMR3	19	14740973	Missense_Mutation	SNP	T	TCGA-BP-4963-01A-01D-1462-08	3611341	14740973	44388010	82	21035											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39026031	39026031	+	Splice_Site	SNP	A	A	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:39026031A>G	ENST00000359596.3	+	81	11515	c.11515A>G	c.(11515-11517)Agc>Ggc	p.S3839G	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000355481.4_Splice_Site_p.S3834G|RYR1_ENST00000360985.3_Splice_Site_p.S3839G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3839					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.S3839G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCAAACATGCAGGTAGGTTCG	0.502																																																1	Substitution - Missense(1)	kidney(1)											125	107	113					19																	39026031		2203	4300	6503	SO:0001630	splice_region_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11516+1A>G	19.37:g.39026031A>G			Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.137180	0.37728	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.90261	-2.64;-2.64;-2.64	4.45	4.45	0.53987	.	0.122560	0.51477	U	0.000087	D	0.94029	0.8087	M	0.83012	2.62	0.51012	D	0.999904	D;P;P	0.56287	0.975;0.865;0.787	P;P;B	0.57679	0.825;0.608;0.404	D	0.94748	0.7925	10	0.87932	D	0	.	12.8309	0.57746	1.0:0.0:0.0:0.0	.	3839;3834;3839	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	G	3839;3834;3839	ENSP00000352608:S3839G;ENSP00000347667:S3834G;ENSP00000354254:S3839G	ENSP00000347667:S3834G	S	+	1	0	RYR1	43717871	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	8.841000	0.92131	1.878000	0.54408	0.454000	0.30748	AGC		0.502	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation	G	39026031	A	G	39026031	5	3	379	1	0	0	0	0	0	0	1	0	13774	202	7	3	11837	3	RYR1	19	39026031	Splice_Site	SNP	A	TCGA-BP-4963-01A-01D-1462-08	24285058	39026031	20102952	83	21036											
DONSON	29980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34956957	34956957	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr21:34956957C>T	ENST00000303071.5	-	4	790	c.724G>A	c.(724-726)Gct>Act	p.A242T	DONSON_ENST00000453626.1_Missense_Mutation_p.A242T|DONSON_ENST00000303113.6_Missense_Mutation_p.A228T|DONSON_ENST00000432378.1_Missense_Mutation_p.A242T	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	242					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.A242T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GTCTTTCCAGCCATTTTTCTA	0.433																																																1	Substitution - Missense(1)	kidney(1)											112	103	106					21																	34956957		2203	4300	6503	SO:0001583	missense	29980			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.724G>A	21.37:g.34956957C>T	ENSP00000307143:p.Ala242Thr		Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	CCDS13632.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.78|14.78|14.78	2.637442|2.637442|2.637442	0.47049|0.47049|0.47049	.|.|.	.|.|.	ENSG00000159147|ENSG00000159147|ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378|ENST00000440810|ENST00000437395	.|.|.	.|.|.	.|.|.	5.99|5.99|5.99	-1.42|-1.42|-1.42	0.08913|0.08913|0.08913	.|.|.	0.570720|.|.	0.19909|.|.	N|.|.	0.103338|.|.	T|T|.	0.31167|0.31167|.	0.0788|0.0788|.	N|N|N	0.25890|0.25890|0.25890	0.77|0.77|0.77	0.33228|0.33228|0.33228	D|D|D	0.55561|0.55561|0.55561	B;B;B|.|.	0.12013|.|.	0.001;0.005;0.001|.|.	B;B;B|.|.	0.13407|.|.	0.005;0.009;0.005|.|.	T|T|.	0.38134|0.38134|.	-0.9675|-0.9675|.	9|5|.	0.17832|.|.	T|.|.	0.49|.|.	4.4198|4.4198|4.4198	5.1758|5.1758|5.1758	0.15133|0.15133|0.15133	0.2099:0.4935:0.0:0.2966|0.2099:0.4935:0.0:0.2966|0.2099:0.4935:0.0:0.2966	.|.|.	228;242;242|.|.	F8W8A5;C9J4K5;Q9NYP3|.|.	.;.;DONS_HUMAN|.|.	T|D|X	228;242;242;242|100|212	.|.|.	ENSP00000307143:A242T|.|.	A|G|W	-|-|-	1|2|3	0|0|0	DONSON|DONSON|DONSON	33878827|33878827|33878827	0.724000|0.724000|0.724000	0.28038|0.28038|0.28038	0.946000|0.946000|0.946000	0.38457|0.38457|0.38457	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	0.005000|0.005000|0.005000	0.13129|0.13129|0.13129	-0.624000|-0.624000|-0.624000	0.05611|0.05611|0.05611	-0.812000|-0.812000|-0.812000	0.03155|0.03155|0.03155	GCT|GGC|TGG		0.433	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		T	34956957	C	T	34956957	3	4	379	1	0	0	0	0	1	0	0	0	4708	739	26	2	1004	2	DONSON	21	34956957	Missense_Mutation	SNP	C	TCGA-BP-4963-01A-01D-1462-08		34956957	13172938	84	21037											
SIM2	6493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	38084845	38084845	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr21:38084845T>A	ENST00000290399.6	+	3	884	c.271T>A	c.(271-273)Ttt>Att	p.F91I	SIM2_ENST00000430056.3_Missense_Mutation_p.F91I	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	91	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.F91I(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TTTGGATGGATTTGTTTTTGT	0.378																																																1	Substitution - Missense(1)	kidney(1)											200	177	185					21																	38084845		2203	4300	6503	SO:0001583	missense	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.271T>A	21.37:g.38084845T>A	ENSP00000290399:p.Phe91Ile		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.4|28.4	4.920522|4.920522	0.92249|0.92249	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	T;T|.	0.20881|.	2.04;2.04|.	5.42|5.42	5.42|5.42	0.78866|0.78866	PAS (2);PAS fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87075|0.87075	0.6087|0.6087	H|H	0.95780|0.95780	3.72|3.72	0.51233|0.51233	D|D	0.999919|0.999919	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.73380|.	0.98;0.966|.	D|D	0.91033|0.91033	0.4865|0.4865	10|5	0.87932|.	D|.	0|.	.|.	15.4962|15.4962	0.75653|0.75653	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	91;91|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	I|N	91|28	ENSP00000290399:F91I;ENSP00000404176:F91I|.	ENSP00000290399:F91I|.	F|I	+|+	1|2	0|0	SIM2|SIM2	37006715|37006715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.548000|7.548000	0.82154|0.82154	2.058000|2.058000	0.61347|0.61347	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.378	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		A	38084845	T	A	38084845	3	1	379	1	0	0	0	0	1	0	0	0	14330	1493	52	5	281	5	SIM2	21	38084845	Missense_Mutation	SNP	T	TCGA-BP-4963-01A-01D-1462-08	3127888	38084845	10045050	85	21038											
TRPM2	7226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	45859019	45859019	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr21:45859019T>A	ENST00000397928.1	+	30	4682	c.4237T>A	c.(4237-4239)Tct>Act	p.S1413T	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.S1359T|TRPM2_ENST00000397932.2_Missense_Mutation_p.S1463T|snoZ6_ENST00000583496.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.S1413T|snoZ6_ENST00000581669.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1413	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.S1413T(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCACTGGCCGTCTTTTGAAAA	0.592																																																1	Substitution - Missense(1)	kidney(1)											128	86	100					21																	45859019		2203	4300	6503	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4237T>A	21.37:g.45859019T>A	ENSP00000381023:p.Ser1413Thr		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	T	6.904	0.536413	0.13188	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	4.2	-8.39	0.00969	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.941754	0.08885	N	0.879461	T	0.05640	0.0148	L	0.33293	1	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.0;0.0	T	0.42616	-0.9441	10	0.11794	T	0.64	-4.1869	0.343	0.00337	0.313:0.2491:0.2355:0.2023	.	94;1463;1199;1413	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	T	1413;1413;1359;1463;157	ENSP00000300482:S1413T;ENSP00000381023:S1413T;ENSP00000300481:S1359T;ENSP00000381026:S1463T	ENSP00000300481:S1359T	S	+	1	0	TRPM2	44683447	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.745000	0.01831	-1.996000	0.00970	0.260000	0.18958	TCT		0.592	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		A	45859019	T	A	45859019	3	1	379	1	0	0	0	0	1	0	0	0	16591	1667	58	5	4355	5	TRPM2	21	45859019	Missense_Mutation	SNP	T	TCGA-BP-4963-01A-01D-1462-08	7774174	45859019	2270876	86	21039											
MPST	4357	broad.mit.edu	37	22	37420445	37420445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr22:37420445delC	ENST00000397225.2	+	2	1104	c.189delC	c.(187-189)gacfs	p.D63fs	MPST_ENST00000341116.3_Frame_Shift_Del_p.D63fs|MPST_ENST00000404393.1_Frame_Shift_Del_p.D63fs|MPST_ENST00000397129.1_Frame_Shift_Del_p.D83fs|MPST_ENST00000429360.2_Frame_Shift_Del_p.D63fs|MPST_ENST00000401419.3_Frame_Shift_Del_p.D63fs|MPST_ENST00000404802.3_Frame_Shift_Del_p.D63fs			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	63	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TCGACATCGACCAGTGCAGCG	0.716																																																0													12	10	11					22																	37420445		2151	4203	6354	SO:0001589	frameshift_variant	4357			X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"human liver rhodanese"	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.189delC	22.37:g.37420445delC	ENSP00000380402:p.Asp63fs		A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Frame_Shift_Del	DEL	ENST00000397225.2	37	CCDS13939.1																																																																																				0.716	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318832.1	NM_001013440		-	37420445	C	-	37420445	7	5	379	1	0	1	0	1	0	0	0	0	9746	506	18	0	255	0	MPST	22	37420445	Frame_Shift_Del	DEL	C	TCGA-BP-4963-01A-01D-1462-08		37420445	13884121	87	21040											
BHLHB9	80823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	102004677	102004677	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chrX:102004677G>T	ENST00000372735.1	+	4	1339	c.754G>T	c.(754-756)Gct>Tct	p.A252S	BHLHB9_ENST00000457056.1_Missense_Mutation_p.A252S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A252S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A252S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A252S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	252					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.A252S(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCTGGCCTCCGCTGAAGAAAA	0.517																																																1	Substitution - Missense(1)	kidney(1)											65	60	61					X																	102004677		2202	4299	6501	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.754G>T	X.37:g.102004677G>T	ENSP00000361820:p.Ala252Ser		Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.597011	0.00857	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	4.68	1.91	0.25777	.	0.558447	0.15248	N	0.272513	T	0.09555	0.0235	L	0.44542	1.39	0.09310	N	1	B	0.21905	0.062	B	0.15870	0.014	T	0.32877	-0.9890	9	.	.	.	-16.6086	3.1333	0.06430	0.2302:0.0:0.558:0.2118	.	252	Q6PI77	BHLH9_HUMAN	S	252	ENSP00000403226:A252S;ENSP00000354675:A252S;ENSP00000405893:A252S;ENSP00000391722:A252S;ENSP00000361820:A252S	.	A	+	1	0	BHLHB9	101891333	0.928000	0.31464	0.001000	0.08648	0.107000	0.19398	0.466000	0.22019	0.266000	0.21894	0.597000	0.82753	GCT		0.517	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		T	102004677	G	T	102004677	3	4	379	1	0	0	0	0	1	0	0	0	1420	1087	38	4	756	4	BHLHB9	23	102004677	Missense_Mutation	SNP	G	TCGA-BP-4963-01A-01D-1462-08		102004677	53265883	88	21041											
PLS3	5358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	114880823	114880823	+	Silent	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chrX:114880823G>C	ENST00000420625.2	+	13	1613	c.1479G>C	c.(1477-1479)ctG>ctC	p.L493L	PLS3_ENST00000289290.3_Silent_p.L457L|PLS3_ENST00000537301.1_Silent_p.L480L|PLS3_ENST00000355899.3_Silent_p.L493L|PLS3_ENST00000539310.1_Silent_p.L448L|PLS3_ENST00000543070.1_Silent_p.L87L	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	493	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.L493L(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ACCAAACCCTGACTTTAGCTT	0.418																																					Colon(160;1047 1864 8490 12969 29601)											1	Substitution - coding silent(1)	kidney(1)											170	140	150					X																	114880823		2203	4300	6503	SO:0001819	synonymous_variant	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"EF-hand domain containing"	9091	protein-coding gene	gene with protein product		300131	"plastin 3 (T isoform)"			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1479G>C	X.37:g.114880823G>C			A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Silent	SNP	ENST00000420625.2	37	CCDS14568.1																																																																																				0.418	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			C	114880823	G	C	114880823	2	2	379	1	0	0	0	0	0	0	0	1	12110	1277	45	4		4	PLS3	23	114880823	Silent	SNP	G	TCGA-BP-4963-01A-01D-1462-08	12876146	114880823	40389737	89	21042											
TAS1R3	83756	broad.mit.edu;hgsc.bcm.edu	37	1	1268364	1268364	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:1268364A>G	ENST00000339381.5	+	4	1371	c.1339A>G	c.(1339-1341)Agc>Ggc	p.S447G		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	447					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.S447G(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GTTCGACAGCAGCGGAAACGT	0.667																																																1	Substitution - Missense(1)	kidney(1)											47	47	47					1																	1268364		2200	4296	6496	SO:0001583	missense	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1339A>G	1.37:g.1268364A>G	ENSP00000344411:p.Ser447Gly		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.650532	0.29336	.	.	ENSG00000169962	ENST00000339381	D	0.83419	-1.72	4.86	-2.51	0.06365	Extracellular ligand-binding receptor (1);	4.107710	0.00397	N	0.000040	T	0.73118	0.3546	L	0.45137	1.4	0.09310	N	1	P	0.39424	0.673	B	0.37550	0.253	T	0.59402	-0.7461	10	0.31617	T	0.26	.	1.084	0.01648	0.3028:0.334:0.145:0.2182	.	447	Q7RTX0	TS1R3_HUMAN	G	447	ENSP00000344411:S447G	ENSP00000344411:S447G	S	+	1	0	TAS1R3	1258227	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.818000	0.04467	-0.469000	0.06911	0.374000	0.22700	AGC		0.667	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			G	1268364	A	G	1268364	3	3	380	1	0	0	0	0	1	0	0	0	15569	188	7	3	1353	3	TAS1R3	1	1268364	Missense_Mutation	SNP	A	TCGA-BP-4964-01A-01D-1462-08		1268364	247982257	1	21043											
UBR4	23352	broad.mit.edu;hgsc.bcm.edu	37	1	19480421	19480421	+	Silent	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:19480421G>T	ENST00000375254.3	-	45	6498	c.6471C>A	c.(6469-6471)ggC>ggA	p.G2157G	UBR4_ENST00000375226.2_Silent_p.G2157G|UBR4_ENST00000375217.2_Silent_p.G2157G|UBR4_ENST00000375267.2_Silent_p.G2157G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2157					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G2157G(2)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGTCTTACTGCCACCATTGG	0.483																																																2	Substitution - coding silent(2)	kidney(1)|endometrium(1)											76	70	72					1																	19480421		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6471C>A	1.37:g.19480421G>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		T	19480421	G	T	19480421	2	4	380	1	0	0	0	0	0	0	0	1	16909	1306	46	4		4	UBR4	1	19480421	Silent	SNP	G	TCGA-BP-4964-01A-01D-1462-08	18212057	19480421	229770200	2	21044											
OTUD3	23252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20224088	20224088	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:20224088G>T	ENST00000375120.3	+	4	540	c.539G>T	c.(538-540)gGa>gTa	p.G180V	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	180	His-loop.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)	p.G180V(1)		breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TATCGGTATGGAGAGCACTAC	0.512																																																1	Substitution - Missense(1)	kidney(1)											119	117	118					1																	20224088		2037	4196	6233	SO:0001583	missense	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.539G>T	1.37:g.20224088G>T	ENSP00000364261:p.Gly180Val		O75047	Missense_Mutation	SNP	ENST00000375120.3	37	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828171	0.90955	.	.	ENSG00000169914	ENST00000375120	T	0.52754	0.65	5.78	5.78	0.91487	Ovarian tumour, otubain (1);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.87547	2.89	0.80722	D	1	D	0.60575	0.988	D	0.65684	0.937	T	0.76841	-0.2810	10	0.66056	D	0.02	.	18.5841	0.91182	0.0:0.0:1.0:0.0	.	180	Q5T2D3	OTUD3_HUMAN	V	180	ENSP00000364261:G180V	ENSP00000364261:G180V	G	+	2	0	OTUD3	20096675	1.000000	0.71417	0.242000	0.24170	0.970000	0.65996	8.924000	0.92827	2.730000	0.93505	0.655000	0.94253	GGA		0.512	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			T	20224088	G	T	20224088	3	4	380	1	0	0	0	0	1	0	0	0	11315	1174	41	4	553	4	OTUD3	1	20224088	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	743667	20224088	229026533	3	21045											
PIGV	55650	hgsc.bcm.edu;ucsc.edu	37	1	27121228	27121228	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:27121228delT	ENST00000374145.1	+	3	1385	c.703delT	c.(703-705)tttfs	p.F235fs	PIGV_ENST00000449950.2_Intron|PIGV_ENST00000078527.4_Frame_Shift_Del_p.F235fs	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	235					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GAGACAGCTCTTTAAGCTGAT	0.502																																																0													122	126	125					1																	27121228		2203	4300	6503	SO:0001589	frameshift_variant	55650			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	26031	protein-coding gene	gene with protein product	"GPI mannosyltransferase 2", "dol-P-Man dependent GPI mannosyltransferase"	610274	"phosphatidylinositol glycan, class V"			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.703delT	1.37:g.27121228delT	ENSP00000363260:p.Phe235fs		D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Frame_Shift_Del	DEL	ENST00000374145.1	37	CCDS287.1																																																																																				0.502	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837		-	27121228	T	-	27121228	7	5	380	1	0	1	0	1	0	0	0	0	11903	1609	56	0	709	0	PIGV	1	27121228	Frame_Shift_Del	DEL	T	TCGA-BP-4964-01A-01D-1462-08	6897140	27121228	222129393	4	21046											
CLSPN	63967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36230877	36230877	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:36230877A>C	ENST00000318121.3	-	2	132	c.75T>G	c.(73-75)gaT>gaG	p.D25E	CLSPN_ENST00000373220.3_Missense_Mutation_p.D25E|CLSPN_ENST00000251195.5_Missense_Mutation_p.D25E|CLSPN_ENST00000520551.1_Missense_Mutation_p.D25E	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	25					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.D25E(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGAAGGACTATCTGCTTCCT	0.408																																																2	Substitution - Missense(2)	kidney(2)											155	142	146					1																	36230877		2203	4300	6503	SO:0001583	missense	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.75T>G	1.37:g.36230877A>C	ENSP00000312995:p.Asp25Glu		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	.	.	.	.	.	.	.	.	.	.	A	7.047	0.563762	0.13498	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.23754	1.92;1.93;1.89;1.91	5.1	-5.61	0.02489	.	0.930982	0.09193	N	0.835781	T	0.11239	0.0274	L	0.27053	0.805	0.20873	N	0.999835	B;B	0.30605	0.001;0.287	B;B	0.28011	0.003;0.085	T	0.35051	-0.9804	10	0.11794	T	0.64	-2.2728	4.459	0.11657	0.253:0.1193:0.51:0.1177	.	25;25	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	E	25	ENSP00000251195:D25E;ENSP00000312995:D25E;ENSP00000362317:D25E;ENSP00000428848:D25E	ENSP00000251195:D25E	D	-	3	2	CLSPN	36003464	0.032000	0.19561	0.810000	0.32431	0.891000	0.51852	-0.373000	0.07494	-0.848000	0.04163	-1.074000	0.02243	GAT		0.408	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		C	36230877	A	C	36230877	3	2	380	1	0	0	0	0	1	0	0	0	3562	446	16	5	4040	5	CLSPN	1	36230877	Missense_Mutation	SNP	A	TCGA-BP-4964-01A-01D-1462-08	9109649	36230877	213019744	5	21047											
NDUFS5	4725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39494463	39494463	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:39494463G>T	ENST00000372969.3	+	2	154	c.67G>T	c.(67-69)Ggt>Tgt	p.G23C	NDUFS5_ENST00000372967.3_Missense_Mutation_p.G23C	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	23					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.G23C(1)		endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			AATCCAGAGTGGTGAACAGCC	0.418																																																1	Substitution - Missense(1)	kidney(1)											104	97	99					1																	39494463		2203	4300	6503	SO:0001583	missense	4725			AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"Mitochondrial respiratory chain complex / Complex I"	7712	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"	603847	"NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	ENST00000372969.3:c.67G>T	1.37:g.39494463G>T	ENSP00000362060:p.Gly23Cys			Missense_Mutation	SNP	ENST00000372969.3	37	CCDS434.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048319	0.36181	.	.	ENSG00000168653	ENST00000372969;ENST00000372967	T;T	0.78924	-1.22;-1.22	5.82	5.82	0.92795	.	0.338213	0.34700	N	0.003757	T	0.67002	0.2847	L	0.29908	0.895	0.36398	D	0.862916	B	0.24576	0.106	B	0.14023	0.01	T	0.70135	-0.4955	10	0.66056	D	0.02	-2.6263	12.5244	0.56077	0.0:0.0:0.8335:0.1664	.	23	O43920	NDUS5_HUMAN	C	23	ENSP00000362060:G23C;ENSP00000362058:G23C	ENSP00000362058:G23C	G	+	1	0	NDUFS5	39267050	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	3.406000	0.52637	2.767000	0.95098	0.655000	0.94253	GGT		0.418	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1	NM_004552		T	39494463	G	T	39494463	3	4	380	1	0	0	0	0	1	0	0	0	10297	1348	47	4	69	4	NDUFS5	1	39494463	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	3263586	39494463	209756158	6	21048											
HECTD3	79654	broad.mit.edu;hgsc.bcm.edu	37	1	45476654	45476654	+	Silent	SNP	G	G	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:45476654G>C	ENST00000372172.4	-	1	347	c.276C>G	c.(274-276)gcC>gcG	p.A92A	HECTD3_ENST00000372168.3_5'Flank|UROD_ENST00000246337.4_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	92					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A92A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TGCTGTCGCGGGCGGCGCGGA	0.751																																																1	Substitution - coding silent(1)	kidney(1)											8	8	8					1																	45476654		1301	3023	4324	SO:0001819	synonymous_variant	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.276C>G	1.37:g.45476654G>C			B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	ENST00000372172.4	37	CCDS41318.1																																																																																				0.751	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		C	45476654	G	C	45476654	2	2	380	1	0	0	0	0	0	0	0	1	7043	1219	43	4		4	HECTD3	1	45476654	Silent	SNP	G	TCGA-BP-4964-01A-01D-1462-08	5982191	45476654	203773967	7	21049											
ZNF326	284695	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	90475839	90475839	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:90475839T>G	ENST00000340281.4	+	6	951	c.808T>G	c.(808-810)Tca>Gca	p.S270A	ZNF326_ENST00000370447.3_Missense_Mutation_p.S181A|ZNF326_ENST00000455342.2_Missense_Mutation_p.S64A	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	270					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.S270A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CCTCAGCAAATCACCCAGTAA	0.303																																																1	Substitution - Missense(1)	kidney(1)											90	91	90					1																	90475839		2203	4300	6503	SO:0001583	missense	284695			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.808T>G	1.37:g.90475839T>G	ENSP00000340796:p.Ser270Ala		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.503133	0.26949	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.14516	2.5;2.5;2.5	5.83	4.66	0.58398	.	0.884074	0.09804	N	0.753678	T	0.03783	0.0107	N	0.14661	0.345	0.36751	D	0.882754	P;B	0.37441	0.595;0.451	B;B	0.34931	0.192;0.137	T	0.38156	-0.9674	10	0.35671	T	0.21	-3.8831	11.6443	0.51253	0.1325:0.0:0.0:0.8675	.	270;270	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	A	270;270;181;64	ENSP00000340796:S270A;ENSP00000359476:S181A;ENSP00000403470:S64A	ENSP00000340796:S270A	S	+	1	0	ZNF326	90248427	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	1.769000	0.38522	2.216000	0.71823	0.472000	0.43445	TCA		0.303	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		G	90475839	T	G	90475839	3	3	380	1	0	0	0	0	1	0	0	0	17851	1435	50	5	834	5	ZNF326	1	90475839	Missense_Mutation	SNP	T	TCGA-BP-4964-01A-01D-1462-08	44999185	90475839	158774782	8	21050											
ARHGAP30	257106	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161039395	161039395	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:161039395C>T	ENST00000368013.3	-	1	340	c.20G>A	c.(19-21)gGa>gAa	p.G7E	ARHGAP30_ENST00000368015.1_Intron|PVRL4_ENST00000486694.1_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.G7E	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	7					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.G7E(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTTCTTCTTTCCTTTCTGCCG	0.627																																																2	Substitution - Missense(2)	kidney(2)											99	90	93					1																	161039395		2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.20G>A	1.37:g.161039395C>T	ENSP00000356992:p.Gly7Glu		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094831	0.56075	.	.	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.09911	3.01;2.93	4.64	4.64	0.57946	Rho GTPase-activating protein domain (1);	0.073554	0.51477	D	0.000083	T	0.11965	0.0291	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.66979	0.948;0.896	T	0.01702	-1.1292	10	0.45353	T	0.12	.	10.1462	0.42764	0.1991:0.8009:0.0:0.0	.	7;7	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	E	7	ENSP00000356995:G7E;ENSP00000356992:G7E	ENSP00000356992:G7E	G	-	2	0	ARHGAP30	159306019	0.912000	0.30974	1.000000	0.80357	0.969000	0.65631	1.762000	0.38451	2.376000	0.81061	0.655000	0.94253	GGA		0.627	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		T	161039395	C	T	161039395	3	4	380	1	0	0	0	0	1	0	0	0	879	855	30	2	3333	2	ARHGAP30	1	161039395	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	70563556	161039395	88211226	9	21051											
RALGPS2	55103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	178852665	178852665	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:178852665G>T	ENST00000367635.3	+	11	1239	c.901G>T	c.(901-903)Gta>Tta	p.V301L	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.V301L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	301					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V301L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGAAGATTTAGTAGGTCAGTA	0.323																																																1	Substitution - Missense(1)	kidney(1)											81	84	83					1																	178852665		2203	4300	6503	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.901G>T	1.37:g.178852665G>T	ENSP00000356607:p.Val301Leu		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.035014|3.035014	0.54896|0.54896	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000415888|ENST00000367635;ENST00000367634;ENST00000324778	.|T;T;T	.|0.38401	.|1.14;1.14;1.14	5.92|5.92	5.01|5.01	0.66863|0.66863	.|.	.|0.509696	.|0.21089	.|N	.|0.080352	T|T	0.26666|0.26666	0.0652|0.0652	L|L	0.33485|0.33485	1.01|1.01	0.41594|0.41594	D|D	0.988816|0.988816	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.12156	.|0.007;0.004	T|T	0.06881|0.06881	-1.0802|-1.0802	5|10	.|0.07325	.|T	.|0.83	.|.	14.6133|14.6133	0.68531|0.68531	0.0702:0.0:0.9298:0.0|0.0702:0.0:0.9298:0.0	.|.	.|301;301	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	I|L	38|301;301;266	.|ENSP00000356607:V301L;ENSP00000356606:V301L;ENSP00000313613:V266L	.|ENSP00000313613:V266L	S|V	+|+	2|1	0|0	RALGPS2|RALGPS2	177119288|177119288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	4.294000|4.294000	0.59043|0.59043	1.520000|1.520000	0.48965|0.48965	0.650000|0.650000	0.86243|0.86243	AGT|GTA		0.323	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		T	178852665	G	T	178852665	3	4	380	1	0	0	0	0	1	0	0	0	13024	1029	36	4	939	4	RALGPS2	1	178852665	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	17813270	178852665	70397956	10	21052											
PTGS2	5743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186645102	186645102	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:186645102G>T	ENST00000367468.5	-	8	1321	c.1185C>A	c.(1183-1185)taC>taA	p.Y395*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	395					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.Y395*(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TAGAGTTGTTGTAGATAAACT	0.388																																																2	Substitution - Nonsense(2)	kidney(2)											148	144	146					1																	186645102		2203	4300	6503	SO:0001587	stop_gained	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1185C>A	1.37:g.186645102G>T	ENSP00000356438:p.Tyr395*		A8K802|Q16876	Nonsense_Mutation	SNP	ENST00000367468.5	37	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	38	6.733899	0.97796	.	.	ENSG00000073756	ENST00000367468	.	.	.	5.6	1.4	0.22301	.	0.049706	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-23.6652	11.0724	0.48010	0.2759:0.0:0.7241:0.0	.	.	.	.	X	395	.	ENSP00000356438:Y395X	Y	-	3	2	PTGS2	184911725	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.347000	0.65998	0.343000	0.23821	-0.157000	0.13467	TAC		0.388	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		T	186645102	G	T	186645102	4	4	380	1	0	0	0	0	0	1	0	0	12762	1372	48	4	641	4	PTGS2	1	186645102	Nonsense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	7792437	186645102	62605519	11	21053											
ASPM	259266	hgsc.bcm.edu;ucsc.edu	37	1	197072929	197072929	+	Missense_Mutation	SNP	G	G	A	rs41299625	byFrequency	TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:197072929G>A	ENST00000367409.4	-	18	5708	c.5452C>T	c.(5452-5454)Cgc>Tgc	p.R1818C	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1818	IQ 8. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTAGCTGGCGTACTTTATAA	0.368													G|||	8	0.00159744	0.0	0.0058	5008	,	,		19443	0.001		0.002	False		,,,				2504	0.001															0								G	,CYS/ARG	4,4400	8.1+/-20.4	0,4,2198	94	97	96		,5452	5.7	0.6	1	dbSNP_127	96	17,8579	13.3+/-46.6	0,17,4281	yes	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,180	0,21,6479	AA,AG,GG		0.1978,0.0908,0.1615	,probably-damaging	,1818/3478	197072929	21,12979	2202	4298	6500	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5452C>T	1.37:g.197072929G>A	ENSP00000356379:p.Arg1818Cys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	7	0.003205128205128205	0	0.0	4	0.011049723756906077	1	0.0017482517482517483	2	0.002638522427440633	G	18.01	3.527730	0.64860	9.08E-4	0.001978	ENSG00000066279	ENST00000367409	T	0.65732	-0.17	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89996	0.4111	10	0.87932	D	0	.	19.8904	0.96928	0.0:0.0:1.0:0.0	rs41299625	1818	Q8IZT6	ASPM_HUMAN	C	1818	ENSP00000356379:R1818C	ENSP00000356379:R1818C	R	-	1	0	ASPM	195339552	1.000000	0.71417	0.587000	0.28692	0.829000	0.46940	5.374000	0.66167	2.697000	0.92050	0.650000	0.86243	CGC		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		A	197072929	G	A	197072929	3	1	380	1	0	0	0	0	1	0	0	0	1056	1145	40	1	5025	1	ASPM	1	197072929	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	10427827	197072929	52177692	12	21054											
ITSN2	50618	broad.mit.edu	37	2	24524884	24524884	+	Silent	SNP	T	T	G	rs199950309		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:24524884T>G	ENST00000355123.4	-	10	1388	c.945A>C	c.(943-945)ggA>ggC	p.G315G	ITSN2_ENST00000361999.3_Silent_p.G315G|ITSN2_ENST00000406921.3_Silent_p.G315G	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	315	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.G314G(1)|p.G315G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAATGGCTGTCCAGCTTTGG	0.458																																																2	Substitution - coding silent(2)	kidney(2)											114	99	104					2																	24524884		2203	4300	6503	SO:0001819	synonymous_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.945A>C	2.37:g.24524884T>G			O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	CCDS1710.2																																																																																				0.458	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		G	24524884	T	G	24524884	2	3	380	1	0	0	0	0	0	0	0	1	7929	1654	58	5		5	ITSN2	2	24524884	Silent	SNP	T	TCGA-BP-4964-01A-01D-1462-08		24524884	218674489	13	21055											
SEMA4F	10505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74907017	74907017	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:74907017G>T	ENST00000357877.2	+	14	2143	c.1994G>T	c.(1993-1995)gGc>gTc	p.G665V	SEMA4F_ENST00000339773.5_Missense_Mutation_p.G510V|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	665					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.G665V(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GGACTGGCTGGCTTCTTCTTG	0.622																																																1	Substitution - Missense(1)	kidney(1)											38	45	43					2																	74907017		2203	4300	6503	SO:0001583	missense	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1994G>T	2.37:g.74907017G>T	ENSP00000350547:p.Gly665Val		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	5.959	0.361003	0.11296	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.19806	2.3;2.12	5.38	5.38	0.77491	.	6.336750	0.00465	N	0.000113	T	0.30070	0.0753	N	0.08118	0	0.58432	D	0.999997	D;D	0.65815	0.995;0.991	D;P	0.66497	0.944;0.831	T	0.35025	-0.9805	10	0.16896	T	0.51	.	14.6234	0.68602	0.0:0.0:1.0:0.0	.	510;665	O95754-2;O95754	.;SEM4F_HUMAN	V	665;510	ENSP00000350547:G665V;ENSP00000342675:G510V	ENSP00000342675:G510V	G	+	2	0	SEMA4F	74760525	1.000000	0.71417	0.862000	0.33874	0.097000	0.18754	2.667000	0.46808	2.526000	0.85167	0.467000	0.42956	GGC		0.622	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		T	74907017	G	T	74907017	3	4	380	1	0	0	0	0	1	0	0	0	14041	1203	42	4	2048	4	SEMA4F	2	74907017	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	50382133	74907017	168292356	14	21056											
SCN1A	6323	hgsc.bcm.edu;ucsc.edu	37	2	166848925	166848925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:166848925delA	ENST00000303395.4	-	26	4859	c.4860delT	c.(4858-4860)tttfs	p.F1620fs	SCN1A_ENST00000375405.3_Frame_Shift_Del_p.F1609fs|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Frame_Shift_Del_p.F1592fs|SCN1A_ENST00000423058.2_Frame_Shift_Del_p.F1620fs			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1620					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTCGGCAAGAAACATACCTA	0.413																																																0													62	64	63					2																	166848925		2203	4300	6503	SO:0001589	frameshift_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4860delT	2.37:g.166848925delA	ENSP00000303540:p.Phe1620fs		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Frame_Shift_Del	DEL	ENST00000303395.4	37	CCDS54413.1																																																																																				0.413	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		-	166848925	A	-	166848925	7	5	380	1	0	1	0	1	0	0	0	0	13920	243	9	0	1173	0	SCN1A	2	166848925	Frame_Shift_Del	DEL	A	TCGA-BP-4964-01A-01D-1462-08	91941908	166848925	76350448	15	21057											
CHN1	1123	broad.mit.edu;hgsc.bcm.edu	37	2	175742574	175742574	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:175742574C>A	ENST00000409900.3	-	6	856	c.543G>T	c.(541-543)gaG>gaT	p.E181D	CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Missense_Mutation_p.E181D	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	181					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.E181D(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TTACCCTTTTCTCTGACACCC	0.408			T	TAF15	extraskeletal myxoid chondrosarcoma																																		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	1	Substitution - Missense(1)	kidney(1)											88	80	83					2																	175742574		1858	4096	5954	SO:0001583	missense	1123				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.543G>T	2.37:g.175742574C>A	ENSP00000386741:p.Glu181Asp		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862257	0.32884	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	T;T	0.71103	-0.54;-0.09	5.82	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	N	0.22421	0.69	0.48762	D	0.999707	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46610	-0.9179	10	0.33141	T	0.24	.	5.313	0.15841	0.1771:0.6694:0.0:0.1535	.	181;181	B4DV19;P15882	.;CHIN_HUMAN	D	181	ENSP00000386741:E181D;ENSP00000386470:E181D	ENSP00000386470:E181D	E	-	3	2	CHN1	175450820	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.909000	0.28558	1.401000	0.46761	0.655000	0.94253	GAG		0.408	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		A	175742574	C	A	175742574	3	1	380	1	0	0	0	0	1	0	0	0	3364	912	32	4	868	4	CHN1	2	175742574	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	8893649	175742574	67456799	16	21058											
TTN	7273	broad.mit.edu;hgsc.bcm.edu	37	2	179572409	179572409	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:179572409C>G	ENST00000591111.1	-	98	28158	c.27934G>C	c.(27934-27936)Gaa>Caa	p.E9312Q	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E8385Q|TTN_ENST00000589042.1_Missense_Mutation_p.E9629Q|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13428	Ig-like 76.				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)	p.E8385K(1)|p.E8385Q(1)		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)			GGCTTTATTTCCCTGCCAGCC	0.498																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											94	88	90					2																	179572409		1962	4148	6110	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27934G>C	2.37:g.179572409C>G	ENSP00000465570:p.Glu9312Gln		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.35	2.808289	0.50421	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79070	0.4384	L	0.51914	1.62	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80219	-0.1473	9	0.87932	D	0	.	19.5438	0.95283	0.0:1.0:0.0:0.0	.	9312	Q8WZ42	TITIN_HUMAN	Q	8385	ENSP00000343764:E8385Q	ENSP00000343764:E8385Q	E	-	1	0	TTN	179280654	1.000000	0.71417	0.964000	0.40570	0.527000	0.34593	7.744000	0.85034	2.692000	0.91855	0.655000	0.94253	GAA		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179572409	C	G	179572409	3	3	380	1	0	0	0	0	1	0	0	0	16740	864	30	4	75696	4	TTN	2	179572409	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	3829835	179572409	63626964	17	21059											
CPO	130749	broad.mit.edu	37	2	207820279	207820279	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:207820279T>A	ENST00000272852.3	+	3	304	c.258T>A	c.(256-258)taT>taA	p.Y86*		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	86						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Y86*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		ACCCCATGTATTATCTGAAGG	0.433																																																1	Substitution - Nonsense(1)	kidney(1)											145	128	134					2																	207820279		2203	4300	6503	SO:0001587	stop_gained	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.258T>A	2.37:g.207820279T>A	ENSP00000272852:p.Tyr86*		Q2M277|Q7RTW7	Nonsense_Mutation	SNP	ENST00000272852.3	37	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.519328	0.64634	.	.	ENSG00000144410	ENST00000272852	.	.	.	5.11	3.97	0.46021	.	0.460397	0.25283	N	0.031797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9578	0.19283	0.0:0.2025:0.0:0.7975	.	.	.	.	X	86	.	ENSP00000272852:Y86X	Y	+	3	2	CPO	207528524	1.000000	0.71417	0.995000	0.50966	0.312000	0.27988	2.145000	0.42207	0.990000	0.38787	0.459000	0.35465	TAT		0.433	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		A	207820279	T	A	207820279	4	1	380	1	0	0	0	0	0	1	0	0	3822	1500	52	5	268	5	CPO	2	207820279	Nonsense_Mutation	SNP	T	TCGA-BP-4964-01A-01D-1462-08	28247870	207820279	35379094	18	21060											
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238277415	238277415	+	Missense_Mutation	SNP	C	C	T	rs368151192		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:238277415C>T	ENST00000295550.4	-	10	5143	c.4691G>A	c.(4690-4692)cGt>cAt	p.R1564H	COL6A3_ENST00000346358.4_Missense_Mutation_p.R1364H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1363H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1358H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R957H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1358H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1564	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1564H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCGAGGAACGGATCACCTG	0.582																																																1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	130	117	121		4073,2870,4691	2.5	0	2		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	COL6A3	NM_057167.3,NM_057166.4,NM_004369.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	1358/2972,957/2571,1564/3178	238277415	1,13005	2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4691G>A	2.37:g.238277415C>T	ENSP00000295550:p.Arg1564His		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	3.051	-0.195338	0.06259	0.0	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.36	2.55	0.30701	von Willebrand factor, type A (3);	1.106060	0.06868	N	0.800283	T	0.66519	0.2797	N	0.25031	0.7	0.09310	N	1	B;B;B	0.20550	0.046;0.004;0.004	B;B;B	0.20955	0.032;0.01;0.002	T	0.53599	-0.8416	10	0.44086	T	0.13	.	1.7554	0.02981	0.1265:0.3748:0.2731:0.2257	.	957;1358;1564	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1564;1363;1358;957;1358;1364	ENSP00000295550:R1564H;ENSP00000315609:R1363H;ENSP00000315873:R1358H;ENSP00000418285:R957H;ENSP00000386844:R1358H;ENSP00000295546:R1364H	ENSP00000295550:R1564H	R	-	2	0	COL6A3	237942154	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	0.316000	0.19469	0.239000	0.21243	0.655000	0.94253	CGT		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238277415	C	T	238277415	3	4	380	1	0	0	0	0	1	0	0	0	3703	536	19	1	4982	1	COL6A3	2	238277415	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	30457136	238277415	4921958	19	21061											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10183763	10183763	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:10183763A>G	ENST00000256474.2	+	1	1072	c.232A>G	c.(232-234)Aat>Gat	p.N78D	VHL_ENST00000345392.2_Missense_Mutation_p.N78D|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	78			N -> H (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|N -> S (in VHLD; type I; common mutation; dbSNP:rs5030804). {ECO:0000269|PubMed:8956040}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N78D(3)|p.F76fs*80(2)|p.F76fs*81(2)|p.N78Y(2)|p.N78H(2)|p.S72_V87>L(1)|p.C77_N78>Y(1)|p.R60fs*35(1)|p.V74fs*51(1)|p.C77fs*53(1)|p.V74fs*77(1)|p.N78fs*54(1)|p.C77_R79del(1)|p.N78fs*53(1)|p.C77*(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CATCTTCTGCAATCGCAGTCC	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	21	Deletion - Frameshift(8)|Substitution - Missense(7)|Complex - frameshift(2)|Complex - deletion inframe(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(19)|soft_tissue(2)	GRCh37	CM941365	VHL	M							12	15	14					3																	10183763		2175	4240	6415	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.232A>G	3.37:g.10183763A>G	ENSP00000256474:p.Asn78Asp		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	35	5.555516	0.96514	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99960	-9.15;-9.15	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.043720	0.85682	D	0.000000	D	0.99951	0.9979	M	0.84773	2.715	0.42535	D	0.993053	D;D	0.65815	0.994;0.995	D;P	0.63703	0.917;0.866	D	0.94627	0.7818	10	0.87932	D	0	-4.0134	13.5016	0.61459	1.0:0.0:0.0:0.0	.	78;78	P40337-2;P40337	.;VHL_HUMAN	D	78	ENSP00000256474:N78D;ENSP00000344757:N78D	ENSP00000256474:N78D	N	+	1	0	VHL	10158763	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.728000	0.68531	2.069000	0.61940	0.450000	0.29827	AAT		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183763	A	G	10183763	3	3	380	1	0	0	0	0	1	0	0	0	17167	130	5	3	234	3	VHL	3	10183763	Missense_Mutation	SNP	A	TCGA-BP-4964-01A-01D-1462-08		10183763	187838667	20	21062											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu	37	3	52651293	52651293	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:52651293A>C	ENST00000296302.7	-	14	1804	c.1803T>G	c.(1801-1803)aaT>aaG	p.N601K	PBRM1_ENST00000337303.4_Missense_Mutation_p.N601K|PBRM1_ENST00000409114.3_Missense_Mutation_p.N616K|PBRM1_ENST00000409767.1_Missense_Mutation_p.N616K|PBRM1_ENST00000409057.1_Missense_Mutation_p.N601K|PBRM1_ENST00000410007.1_Missense_Mutation_p.N601K|PBRM1_ENST00000394830.3_Missense_Mutation_p.N601K|PBRM1_ENST00000356770.4_Missense_Mutation_p.N569K			Q86U86	PB1_HUMAN	polybromo 1	601	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N601K(2)|p.N569K(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGCCCTCCTCATTATAGTGCC	0.463			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											79	72	75					3																	52651293		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1803T>G	3.37:g.52651293A>C	ENSP00000296302:p.Asn601Lys		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	19.40	3.819836	0.71028	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.74	-3.99	0.04069	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	H	0.98646	4.29	0.53005	D	0.99996	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.995;0.999;0.993;0.999;1.0;0.998;0.998	T	0.81558	-0.0878	10	0.87932	D	0	-22.411	14.2108	0.65764	0.6475:0.0:0.3525:0.0	.	601;601;601;601;616;616;601;569;601	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	K	569;601;601;601;601;601;616;616;601;560	ENSP00000349213:N569K;ENSP00000378307:N601K;ENSP00000296302:N601K;ENSP00000338302:N601K;ENSP00000386593:N601K;ENSP00000386529:N601K;ENSP00000386643:N616K;ENSP00000386601:N616K;ENSP00000387775:N601K;ENSP00000397662:N560K	ENSP00000296302:N601K	N	-	3	2	PBRM1	52626333	0.001000	0.12720	0.975000	0.42487	0.930000	0.56654	-1.160000	0.03147	-0.552000	0.06167	-1.215000	0.01618	AAT		0.463	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52651293	A	C	52651293	3	2	380	1	0	0	0	0	1	0	0	0	11493	214	8	5	3165	5	PBRM1	3	52651293	Missense_Mutation	SNP	A	TCGA-BP-4964-01A-01D-1462-08	42467530	52651293	145371137	21	21063											
MSL2	55167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	135913893	135913893	+	Silent	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:135913893G>A	ENST00000309993.2	-	1	795	c.63C>T	c.(61-63)gaC>gaT	p.D21D	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	21	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D21D(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GGTCTCCGGGGTCGTAGTTGA	0.522																																																1	Substitution - coding silent(1)	kidney(1)											184	196	192					3																	135913893		2203	4300	6503	SO:0001819	synonymous_variant	55167			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.63C>T	3.37:g.135913893G>A			B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Silent	SNP	ENST00000309993.2	37	CCDS33861.1																																																																																				0.522	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		A	135913893	G	A	135913893	2	1	380	1	0	0	0	0	0	0	0	1	9880	1252	44	2		2	MSL2	3	135913893	Silent	SNP	G	TCGA-BP-4964-01A-01D-1462-08	83262600	135913893	62108537	22	21064											
MYNN	55892	broad.mit.edu;ucsc.edu	37	3	169496987	169496987	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:169496987C>T	ENST00000349841.5	+	3	1361	c.698C>T	c.(697-699)tCa>tTa	p.S233L	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Missense_Mutation_p.S233L|MYNN_ENST00000544106.1_Missense_Mutation_p.S233L|MYNN_ENST00000356716.4_Missense_Mutation_p.S233L	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S233L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AATGATAATTCAGAACTCGAG	0.388																																																1	Substitution - Missense(1)	kidney(1)											55	50	52					3																	169496987		2203	4300	6503	SO:0001583	missense	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.698C>T	3.37:g.169496987C>T	ENSP00000326240:p.Ser233Leu		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001227	0.54254	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.10005	3.09;3.09;2.95;2.92	5.2	5.2	0.72013	.	0.430841	0.22226	N	0.062894	T	0.15652	0.0377	N	0.19112	0.55	0.40663	D	0.982141	P;D	0.54601	0.634;0.967	B;P	0.60789	0.167;0.879	T	0.04976	-1.0914	10	0.33940	T	0.23	.	12.4509	0.55677	0.0:0.9225:0.0:0.0775	.	233;233	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	L	233	ENSP00000349150:S233L;ENSP00000326240:S233L;ENSP00000376492:S233L;ENSP00000440637:S233L	ENSP00000326240:S233L	S	+	2	0	MYNN	170979681	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.279000	0.51670	2.579000	0.87056	0.585000	0.79938	TCA		0.388	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		T	169496987	C	T	169496987	3	4	380	1	0	0	0	0	1	0	0	0	10063	838	29	2	704	2	MYNN	3	169496987	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	33583094	169496987	28525443	23	21065											
SKIL	6498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170078221	170078221	+	Silent	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:170078221G>A	ENST00000458537.3	+	1	811	c.102G>A	c.(100-102)acG>acA	p.T34T	SKIL_ENST00000259119.4_Silent_p.T34T|SKIL_ENST00000426052.2_Silent_p.T14T|SKIL_ENST00000413427.2_Silent_p.T34T	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	34					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.T34T(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAATGATAACGGACATTCATG	0.443																																																1	Substitution - coding silent(1)	kidney(1)											93	87	89					3																	170078221		2203	4300	6503	SO:0001819	synonymous_variant	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.102G>A	3.37:g.170078221G>A			A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	CCDS33890.1																																																																																				0.443	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		A	170078221	G	A	170078221	2	1	380	1	0	0	0	0	0	0	0	1	14364	1103	39	1		1	SKIL	3	170078221	Silent	SNP	G	TCGA-BP-4964-01A-01D-1462-08	581234	170078221	27944209	24	21066											
CCDC50	152137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	191087771	191087771	+	Missense_Mutation	SNP	C	C	T	rs376944531		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:191087771C>T	ENST00000392455.3	+	5	992	c.394C>T	c.(394-396)Cca>Tca	p.P132S	CCDC50_ENST00000392456.3_Missense_Mutation_p.P132S	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	132						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)	p.P132S(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GAAACACTTTCCAGAGTTCCC	0.403																																																1	Substitution - Missense(1)	kidney(1)											123	125	124					3																	191087771		2203	4300	6503	SO:0001583	missense	152137			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"deafness, autosomal dominant 44"	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.394C>T	3.37:g.191087771C>T	ENSP00000376249:p.Pro132Ser		Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516537	0.27123	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.31247	1.53;1.5	5.15	3.32	0.38043	.	0.200861	0.35525	N	0.003146	T	0.29491	0.0735	L	0.43701	1.375	0.29217	N	0.874199	B;P	0.40970	0.218;0.734	B;P	0.46510	0.056;0.519	T	0.13361	-1.0512	10	0.52906	T	0.07	.	5.6499	0.17610	0.196:0.7052:0.0:0.0988	.	132;132	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	S	132	ENSP00000376249:P132S;ENSP00000376250:P132S	ENSP00000376249:P132S	P	+	1	0	CCDC50	192570465	0.994000	0.37717	0.988000	0.46212	0.018000	0.09664	1.895000	0.39778	1.149000	0.42402	0.650000	0.86243	CCA		0.403	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		T	191087771	C	T	191087771	3	4	380	1	0	0	0	0	1	0	0	0	2822	855	30	2	412	2	CCDC50	3	191087771	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	21009550	191087771	6934659	25	21067											
LMLN	89782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	197707203	197707203	+	Missense_Mutation	SNP	C	C	T	rs370291786		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:197707203C>T	ENST00000330198.4	+	6	578	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	LMLN_ENST00000420910.2_Missense_Mutation_p.R186W|LMLN_ENST00000482695.1_Missense_Mutation_p.R134W|LMLN_ENST00000332636.5_Missense_Mutation_p.R134W	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	186					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R186W(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GCAGCAATGCCGGGTCTACCG	0.488																																																1	Substitution - Missense(1)	kidney(1)						C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	106	104	105		556,556	2.2	1	3		105	0,8600		0,0,4300	no	missense,missense	LMLN	NM_033029.3,NM_001136049.2	101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	186/656,186/693	197707203	2,13004	2203	4300	6503	SO:0001583	missense	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.556C>T	3.37:g.197707203C>T	ENSP00000328829:p.Arg186Trp		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513873	0.44763	4.54E-4	0.0	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.72	2.16	0.27623	.	0.109676	0.64402	D	0.000009	T	0.35998	0.0951	L	0.49126	1.545	0.46203	D	0.998921	P;B;B;P	0.37398	0.593;0.354;0.136;0.539	B;B;B;B	0.35278	0.117;0.109;0.023;0.199	T	0.13656	-1.0501	10	0.42905	T	0.14	-14.4864	6.5323	0.22334	0.6884:0.1599:0.0:0.1516	.	186;134;186;134	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	W	134;186;114;186;134	ENSP00000418324:R134W;ENSP00000328829:R186W;ENSP00000390872:R114W;ENSP00000410926:R186W;ENSP00000328611:R134W	ENSP00000328829:R186W	R	+	1	2	LMLN	199191600	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.426000	0.52778	0.954000	0.37851	-0.265000	0.10407	CGG		0.488	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		T	197707203	C	T	197707203	3	4	380	1	0	0	0	0	1	0	0	0	8849	643	23	1	578	1	LMLN	3	197707203	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	6619432	197707203	315227	26	21068											
ZNF721	170960	broad.mit.edu;hgsc.bcm.edu	37	4	436954	436954	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr4:436954T>G	ENST00000338977.5	-	2	1314	c.1266A>C	c.(1264-1266)gaA>gaC	p.E422D	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E434D			Q8TF20	ZN721_HUMAN	zinc finger protein 721	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E204D(1)|p.E434D(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTTTCTTATATTCATTCAGGT	0.373																																																2	Substitution - Missense(2)	kidney(2)											59	61	60					4																	436954		1996	4199	6195	SO:0001583	missense	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1266A>C	4.37:g.436954T>G	ENSP00000340524:p.Glu422Asp		Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	T	0.551	-0.849232	0.02651	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.19394	2.15;2.15	0.71	-0.669	0.11388	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	N	0.16656	0.425	0.09310	N	1	B;B;B	0.31752	0.338;0.041;0.033	B;B;B	0.29862	0.108;0.009;0.005	T	0.36261	-0.9755	9	0.12430	T	0.62	.	4.0227	0.09673	0.0:0.2739:0.0:0.7261	.	422;434;434	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	D	422;434	ENSP00000340524:E422D;ENSP00000428878:E434D	ENSP00000340524:E422D	E	-	3	2	ZNF721	426954	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	-1.809000	0.01731	-0.246000	0.09611	0.163000	0.16589	GAA		0.373	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		G	436954	T	G	436954	3	3	380	1	0	0	0	0	1	0	0	0	18127	1490	52	5	1473	5	ZNF721	4	436954	Missense_Mutation	SNP	T	TCGA-BP-4964-01A-01D-1462-08		436954	190717322	27	21069											
CRIPAK	285464	broad.mit.edu;hgsc.bcm.edu	37	4	1389122	1389122	+	Nonsense_Mutation	SNP	C	C	T	rs552730277		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr4:1389122C>T	ENST00000324803.4	+	1	3783	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	275					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R275*(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCTCACGTGCCGATGTGGGGT	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		12421	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Nonsense(1)	kidney(1)											150	138	142					4																	1389122		2202	4299	6501	SO:0001587	stop_gained	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.823C>T	4.37:g.1389122C>T	ENSP00000323978:p.Arg275*		Q8NB03	Nonsense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	54	22.846036	0.99951	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	.	.	.	0.578	-1.16	0.09678	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	2.5553	0.04758	0.3159:0.3672:0.3169:0.0	.	.	.	.	X	275;217	.	ENSP00000323978:R275X	R	+	1	2	CRIPAK	1379122	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.052000	0.03503	-0.373000	0.07979	0.407000	0.27541	CGA		0.682	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		T	1389122	C	T	1389122	4	4	380	1	0	0	0	0	0	1	0	0	3879	644	23	1	825	1	CRIPAK	4	1389122	Nonsense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	952168	1389122	189765154	28	21070											
MRPL1	65008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	78792972	78792972	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr4:78792972A>T	ENST00000315567.8	+	2	435	c.106A>T	c.(106-108)Atc>Ttc	p.I36F		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	36					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I36F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TTCTGTAAACATCCGAGTGCC	0.308																																																1	Substitution - Missense(1)	kidney(1)											110	103	105					4																	78792972		2203	4300	6503	SO:0001583	missense	65008			AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"Mitochondrial ribosomal proteins / large subunits"	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.106A>T	4.37:g.78792972A>T	ENSP00000315017:p.Ile36Phe		A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	CCDS3583.2	.	.	.	.	.	.	.	.	.	.	A	8.495	0.862880	0.17178	.	.	ENSG00000169288	ENST00000315567;ENST00000538314	T	0.42131	0.98	5.41	-10.5	0.00291	Ribosomal protein L1, chordata (1);	1.145420	0.06390	N	0.716816	T	0.22085	0.0532	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.30534	-0.9975	10	0.52906	T	0.07	-0.9135	6.4051	0.21660	0.2378:0.1051:0.5532:0.1039	.	36	Q9BYD6	RM01_HUMAN	F	36;14	ENSP00000315017:I36F	ENSP00000315017:I36F	I	+	1	0	MRPL1	79011996	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.849000	0.01672	-2.153000	0.00793	-0.977000	0.02584	ATC		0.308	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		T	78792972	A	T	78792972	3	4	380	1	0	0	0	0	1	0	0	0	9776	217	8	5	112	5	MRPL1	4	78792972	Missense_Mutation	SNP	A	TCGA-BP-4964-01A-01D-1462-08	77403850	78792972	112361304	29	21071											
EGF	1950	hgsc.bcm.edu	37	4	110865129	110865130	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr4:110865129_110865130insG	ENST00000265171.5	+	4	1086_1087	c.641_642insG	c.(640-645)ctgtttfs	p.F215fs	EGF_ENST00000503392.1_Frame_Shift_Ins_p.F215fs|EGF_ENST00000509793.1_Frame_Shift_Ins_p.F215fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	215					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GATAAGCGGCTGTTTTGGATTC	0.426																																																0																																										SO:0001589	frameshift_variant	1950			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.642dupG	4.37:g.110865130_110865130dupG	ENSP00000265171:p.Phe215fs		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Frame_Shift_Ins	INS	ENST00000265171.5	37	CCDS3689.1																																																																																				0.426	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			G	110865130	-	G	110865129	7	5	380	1	0	1	1	0	0	0	0	0	4964	1580	55	0	655	0	EGF	4	110865129	Frame_Shift_Ins	INS	-	TCGA-BP-4964-01A-01D-1462-08	32072157	110865129	80289147	30	21072											
RANBP3L	202151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	36257042	36257042	+	Splice_Site	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr5:36257042C>T	ENST00000296604.3	-	10	1389		c.e10+1		RANBP3L_ENST00000502994.1_Splice_Site|RANBP3L_ENST00000515759.1_Missense_Mutation_p.V302I	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like						intracellular transport (GO:0046907)			p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GATATACAGACCTTTAACACA	0.353																																																1	Unknown(1)	kidney(1)											157	144	148					5																	36257042		2203	4299	6502	SO:0001630	splice_region_variant	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.903+1G>A	5.37:g.36257042C>T			B7Z866|E9PGP9|Q96LK2	Splice_Site	SNP	ENST00000296604.3	37	CCDS3918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.73|14.73	2.623205|2.623205	0.46840|0.46840	.|.	.|.	ENSG00000164188|ENSG00000164188	ENST00000296604;ENST00000502994|ENST00000515759	.|T	.|0.15139	.|2.45	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|.	.|.	.|.	.|.	.|T	.|0.09862	.|0.0242	.|.	.|.	.|.	0.28566|0.28566	N|N	0.910878|0.910878	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.05386	.|-1.0888	.|6	.|0.02654	.|T	.|1	.|.	17.4359|17.4359	0.87552|0.87552	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|I	-1|302	.|ENSP00000421149:V302I	.|ENSP00000421149:V302I	.|V	-|-	.|1	.|0	RANBP3L|RANBP3L	36292799|36292799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.373000|0.373000	0.29922|0.29922	5.956000|5.956000	0.70315|0.70315	2.721000|2.721000	0.93114|0.93114	0.591000|0.591000	0.81541|0.81541	.|GTC		0.353	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000	Intron	T	36257042	C	T	36257042	5	4	380	1	0	0	0	0	0	0	1	0	13036	521	18	2	513	2	RANBP3L	5	36257042	Splice_Site	SNP	C	TCGA-BP-4964-01A-01D-1462-08		36257042	144658218	31	21073											
F2RL1	2150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	76128711	76128711	+	Silent	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr5:76128711C>T	ENST00000296677.4	+	2	485	c.279C>T	c.(277-279)aaC>aaT	p.N93N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	93					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.N93N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGCCAAGTAACGGCATGGCCC	0.483																																																1	Substitution - coding silent(1)	kidney(1)											207	193	198					5																	76128711		2203	4300	6503	SO:0001819	synonymous_variant	2150			BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.279C>T	5.37:g.76128711C>T			Q13317|Q13346|Q53XJ8	Silent	SNP	ENST00000296677.4	37	CCDS4033.1																																																																																				0.483	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			T	76128711	C	T	76128711	2	4	380	1	0	0	0	0	0	0	0	1	5346	535	19	1		1	F2RL1	5	76128711	Silent	SNP	C	TCGA-BP-4964-01A-01D-1462-08	39871669	76128711	104786549	32	21074											
SLC27A6	28965	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	128351731	128351731	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr5:128351731G>T	ENST00000262462.4	+	5	2133	c.1123G>T	c.(1123-1125)Ggg>Tgg	p.G375W	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G375W|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G375W			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	375					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.G375W(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAACTACACTGGGAGAATTGG	0.363																																																1	Substitution - Missense(1)	kidney(1)											162	164	163					5																	128351731		2203	4300	6503	SO:0001583	missense	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1123G>T	5.37:g.128351731G>T	ENSP00000262462:p.Gly375Trp		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473256	0.63737	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.49720	0.77;0.77;0.77	3.77	2.88	0.33553	AMP-dependent synthetase/ligase (1);	0.112577	0.64402	D	0.000011	T	0.75376	0.3841	H	0.94925	3.6	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.83142	-0.0108	9	.	.	.	-9.3072	13.5762	0.61875	0.0:0.0:0.8429:0.1571	.	375	Q9Y2P4	S27A6_HUMAN	W	375	ENSP00000262462:G375W;ENSP00000378684:G375W;ENSP00000421024:G375W	.	G	+	1	0	SLC27A6	128379630	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.060000	0.76692	1.158000	0.42547	0.461000	0.40582	GGG		0.363	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		T	128351731	G	T	128351731	3	4	380	1	0	0	0	0	1	0	0	0	14536	1348	47	4	1141	4	SLC27A6	5	128351731	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	52223020	128351731	52563529	33	21075											
KIAA0319	9856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24569057	24569057	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr6:24569057G>T	ENST00000378214.3	-	13	2616	c.2092C>A	c.(2092-2094)Cag>Aag	p.Q698K	KIAA0319_ENST00000535378.1_Missense_Mutation_p.Q689K|KIAA0319_ENST00000543707.1_Missense_Mutation_p.Q698K|KIAA0319_ENST00000537886.1_Missense_Mutation_p.Q698K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.Q653K	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	698	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q698K(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCCCTGCTGGTCTTTCACT	0.567																																																1	Substitution - Missense(1)	kidney(1)											137	113	121					6																	24569057		2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2092C>A	6.37:g.24569057G>T	ENSP00000367459:p.Gln698Lys		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190141	0.38707	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	3.73	2.8	0.32819	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (1);	0.467391	0.17855	N	0.159730	T	0.07052	0.0179	M	0.65498	2.005	0.31897	N	0.616406	P;B;P	0.34615	0.459;0.4;0.454	B;B;B	0.34138	0.16;0.11;0.176	T	0.07986	-1.0744	10	0.39692	T	0.17	-7.224	9.2555	0.37581	0.0:0.1565:0.682:0.1615	.	698;689;698	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	K	698;689;653;698;698	ENSP00000439700:Q698K;ENSP00000442403:Q689K;ENSP00000401086:Q653K;ENSP00000367459:Q698K;ENSP00000437656:Q698K	ENSP00000367459:Q698K	Q	-	1	0	KIAA0319	24677036	0.268000	0.24133	1.000000	0.80357	0.898000	0.52572	0.546000	0.23284	1.906000	0.55180	0.585000	0.79938	CAG		0.567	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		T	24569057	G	T	24569057	3	4	380	1	0	0	0	0	1	0	0	0	8170	1357	47	4	1162	4	KIAA0319	6	24569057	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08		24569057	146546010	34	21076											
ZNF322A	79692	broad.mit.edu	37	6	26638479	26638479	+	Silent	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr6:26638479A>G	ENST00000415922.2	-	4	948	c.303T>C	c.(301-303)tgT>tgC	p.C101C	ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000471278.1_Silent_p.C101C	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	101				C -> R (in Ref. 1; AAQ85127). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C101C(1)									CACATTTGCTACATTTATAAG	0.378																																																1	Substitution - coding silent(1)	kidney(1)											118	118	118					6																	26638479		2201	4299	6500	SO:0001819	synonymous_variant	0			AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"Zinc fingers, C2H2-type"	23640	protein-coding gene	gene with protein product		610847	"zinc finger protein 489", "HLA complex group 12", "zinc finger protein 322A"	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.303T>C	6.37:g.26638479A>G			A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Silent	SNP	ENST00000415922.2	37	CCDS4617.1																																																																																				0.378	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		G	26638479	A	G	26638479	2	3	380	1	0	0	0	0	0	0	0	1	17846	389	14	3		3	ZNF322A	6	26638479	Silent	SNP	A	TCGA-BP-4964-01A-01D-1462-08	2069422	26638479	144476588	35	21077											
HUS1	3364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48015247	48015247	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:48015247C>T	ENST00000258774.5	-	5	526	c.503G>A	c.(502-504)aGt>aAt	p.S168N	HUS1_ENST00000432325.1_Missense_Mutation_p.S147N	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	168					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S168N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TTCCACAACACTCTTCATAGT	0.333								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)											1	Substitution - Missense(1)	kidney(1)											100	87	91					7																	48015247		2202	4299	6501	SO:0001583	missense	3364			Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"hus1+-like protein"	603760	"HUS1 (S. pombe) checkpoint homolog"			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.503G>A	7.37:g.48015247C>T	ENSP00000258774:p.Ser168Asn		B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480380	0.26598	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627	T;T;T	0.11604	2.76;2.76;2.76	5.29	4.41	0.53225	.	0.045450	0.85682	D	0.000000	T	0.07548	0.0190	N	0.17764	0.52	0.53005	D	0.999969	B	0.02656	0.0	B	0.10450	0.005	T	0.27262	-1.0079	10	0.24483	T	0.36	-12.4434	11.8856	0.52600	0.0:0.9146:0.0:0.0854	.	168	O60921	HUS1_HUMAN	N	168;147;147	ENSP00000258774:S168N;ENSP00000416588:S147N;ENSP00000404855:S147N	ENSP00000258774:S168N	S	-	2	0	HUS1	47981772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.368000	0.52357	1.357000	0.45904	0.650000	0.86243	AGT		0.333	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		T	48015247	C	T	48015247	3	4	380	1	0	0	0	0	1	0	0	0	7461	565	20	2	355	2	HUS1	7	48015247	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08		48015247	111123416	36	21078											
ANKIB1	54467	hgsc.bcm.edu;ucsc.edu	37	7	91974300	91974310	+	Frame_Shift_Del	DEL	TTGTATGTGCA	TTGTATGTGCA	-			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	TTGTATGTGCA	TTGTATGTGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:91974300_91974310delTTGTATGTGCA	ENST00000265742.3	+	7	1381_1391	c.1005_1015delTTGTATGTGCA	c.(1003-1017)atttgtatgtgcagtfs	p.ICMCS335fs		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	335							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTGTGACATTTGTATGTGCAGTATCTCTGT	0.36																																																0																																										SO:0001589	frameshift_variant	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1005_1015delTTGTATGTGCA	7.37:g.91974300_91974310delTTGTATGTGCA	ENSP00000265742:p.Ile335fs		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Frame_Shift_Del	DEL	ENST00000265742.3	37	CCDS47639.1																																																																																				0.36	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			-	91974310	TTGTATGTGCA	-	91974300	7	5	380	1	0	1	0	1	0	0	0	0	630	1829	64	0	1027	0	ANKIB1	7	91974300	Frame_Shift_Del	DEL	TTGTATGTGCA	TCGA-BP-4964-01A-01D-1462-08	43959053	91974300	67164363	37	21079											
C7orf51	222950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100085830	100085830	+	Silent	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:100085830G>A	ENST00000300179.2	+	4	645	c.486G>A	c.(484-486)caG>caA	p.Q162Q	NYAP1_ENST00000454988.1_Silent_p.Q105Q|NYAP1_ENST00000423930.1_Silent_p.Q162Q	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	162	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.Q162Q(1)									TTCCTCCGCAGAAGCCCAGGC	0.597																																																1	Substitution - coding silent(1)	kidney(1)											105	118	113					7																	100085830		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.486G>A	7.37:g.100085830G>A			Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	CCDS5696.1																																																																																				0.597	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		A	100085830	G	A	100085830	2	1	380	1	0	0	0	0	0	0	0	1	2402	933	33	2		2	C7orf51	7	100085830	Silent	SNP	G	TCGA-BP-4964-01A-01D-1462-08	8111530	100085830	59052833	38	21080											
AGFG2	3268	broad.mit.edu	37	7	100137100	100137101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:100137100_100137101insC	ENST00000300176.4	+	1	253_254	c.131_132insC	c.(130-135)aaccgcfs	p.R45fs	AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.R45fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	45	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGGCCGGGAACCGCCACTGCT	0.733																																																0																																										SO:0001589	frameshift_variant	3268			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.133dupC	7.37:g.100137102_100137102dupC	ENSP00000300176:p.Arg45fs		O75429|Q96AB9|Q96GL4	Frame_Shift_Ins	INS	ENST00000300176.4	37	CCDS5697.1																																																																																				0.733	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		C	100137101	-	C	100137100	7	5	380	1	0	1	1	0	0	0	0	0	381	43	2	0	133	0	AGFG2	7	100137100	Frame_Shift_Ins	INS	-	TCGA-BP-4964-01A-01D-1462-08	51270	100137100	59001563	39	21081											
PLXNA4	91584	broad.mit.edu	37	7	132193205	132193205	+	Missense_Mutation	SNP	G	G	A	rs199571283		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:132193205G>A	ENST00000359827.3	-	2	1210	c.248C>T	c.(247-249)aCg>aTg	p.T83M	PLXNA4_ENST00000378539.5_Missense_Mutation_p.T83M|PLXNA4_ENST00000321063.4_Missense_Mutation_p.T83M|PLXNA4_ENST00000423507.2_Missense_Mutation_p.T83M			Q9HCM2	PLXA4_HUMAN	plexin A4	83	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.T83M(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCTCATGCGTCACCAAGAC	0.557																																																4	Substitution - Missense(4)	kidney(4)											62	64	63					7																	132193205		2203	4300	6503	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.248C>T	7.37:g.132193205G>A	ENSP00000352882:p.Thr83Met		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888295	0.52014	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.899459	0.09264	U	0.826092	T	0.34395	0.0896	L	0.55990	1.75	0.48288	D	0.999629	D;D;D	0.64830	0.993;0.994;0.991	P;P;P	0.59595	0.852;0.86;0.804	T	0.02391	-1.1166	10	0.51188	T	0.08	.	19.1535	0.93499	0.0:0.0:1.0:0.0	.	83;83;83	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	M	83	ENSP00000323194:T83M;ENSP00000352882:T83M;ENSP00000392772:T83M;ENSP00000367800:T83M	ENSP00000323194:T83M	T	-	2	0	PLXNA4	131843745	1.000000	0.71417	0.999000	0.59377	0.285000	0.27093	6.312000	0.72840	2.537000	0.85549	0.462000	0.41574	ACG		0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	132193205	G	A	132193205	3	1	380	1	0	0	0	0	1	0	0	0	12124	1145	40	1	5874	1	PLXNA4	7	132193205	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	32056105	132193205	26945458	40	21082											
TMEM140	55281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134849219	134849219	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:134849219G>A	ENST00000275767.3	+	2	249	c.26G>A	c.(25-27)cGc>cAc	p.R9H	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	9						integral component of membrane (GO:0016021)		p.R9H(1)		kidney(1)|large_intestine(2)|lung(2)	5						CCTCGGTGGCGCGACCAGCTG	0.592																																																1	Substitution - Missense(1)	kidney(1)											123	108	113					7																	134849219		2203	4300	6503	SO:0001583	missense	55281			AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.26G>A	7.37:g.134849219G>A	ENSP00000275767:p.Arg9His		A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.576179	0.45902	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.19105	2.17	5.45	1.96	0.26148	.	1.487380	0.03866	N	0.274914	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	P	0.46327	0.876	B	0.35550	0.205	T	0.16630	-1.0396	10	0.27082	T	0.32	-0.5272	4.9781	0.14151	0.2344:0.1626:0.603:0.0	.	9	Q9NV12	TM140_HUMAN	H	9	ENSP00000275767:R9H	ENSP00000275767:R9H	R	+	2	0	TMEM140	134499759	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.395000	0.20850	0.376000	0.24707	0.462000	0.41574	CGC		0.592	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		A	134849219	G	A	134849219	3	1	380	1	0	0	0	0	1	0	0	0	16060	1087	38	1	28	1	TMEM140	7	134849219	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	2656014	134849219	24289444	41	21083											
TMEM213	155006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138487680	138487680	+	Missense_Mutation	SNP	C	C	T	rs375761457		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:138487680C>T	ENST00000442682.2	+	3	343	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	TMEM213_ENST00000397602.3_Missense_Mutation_p.R63C|TMEM213_ENST00000422794.2_Missense_Mutation_p.R114C|TMEM213_ENST00000458494.1_Missense_Mutation_p.R40C|TMEM213_ENST00000413208.1_Intron	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	64						integral component of membrane (GO:0016021)		p.R64C(2)		breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CCGGTGCTGCCGCACAGGAGT	0.622																																																2	Substitution - Missense(2)	kidney(2)						C	CYS/ARG	1,4225		0,1,2112	36	41	40		190	3.9	0.9	7		40	0,8442		0,0,4221	no	missense	TMEM213	NM_001085429.1	180	0,1,6333	TT,TC,CC		0.0,0.0237,0.0079	probably-damaging	64/108	138487680	1,12667	2113	4221	6334	SO:0001583	missense	155006				CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128			27220	protein-coding gene	gene with protein product							Standard	NM_001085429		Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000442682.2:c.190C>T	7.37:g.138487680C>T	ENSP00000390407:p.Arg64Cys		A4D1R3|C9JH49|C9JX41|C9K0P0	Missense_Mutation	SNP	ENST00000442682.2	37	CCDS47722.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552121	0.65311	2.37E-4	0.0	ENSG00000214128	ENST00000422794;ENST00000397602;ENST00000442682;ENST00000458494	.	.	.	5.9	3.87	0.44632	.	0.665889	0.11256	U	0.583087	T	0.38321	0.1036	N	0.14661	0.345	0.29854	N	0.828197	D;D	0.69078	0.997;0.997	P;P	0.50708	0.648;0.648	T	0.39781	-0.9597	9	0.66056	D	0.02	-15.3016	14.1907	0.65637	0.2829:0.7171:0.0:0.0	.	63;64	A2RRL7-3;A2RRL7	.;TM213_HUMAN	C	114;63;64;40	.	ENSP00000380727:R63C	R	+	1	0	TMEM213	138138220	0.941000	0.31946	0.879000	0.34478	0.458000	0.32498	2.718000	0.47236	1.452000	0.47756	0.650000	0.86243	CGC		0.622	TMEM213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347800.2	NM_001085429		T	138487680	C	T	138487680	3	4	380	1	0	0	0	0	1	0	0	0	16141	652	23	1	200	1	TMEM213	7	138487680	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	3638461	138487680	20650983	42	21084											
LOXL2	4017	broad.mit.edu;hgsc.bcm.edu	37	8	23167334	23167334	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:23167334T>G	ENST00000389131.3	-	10	2096	c.1727A>C	c.(1726-1728)gAg>gCg	p.E576A		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	576	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.E576A(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCAGTTCTCCTCCATGGCACA	0.657																																																1	Substitution - Missense(1)	kidney(1)											49	44	46					8																	23167334		2203	4300	6503	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1727A>C	8.37:g.23167334T>G	ENSP00000373783:p.Glu576Ala		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.024912	0.93518	.	.	ENSG00000134013	ENST00000389131	T	0.40756	1.02	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80621	-0.1301	10	0.66056	D	0.02	.	14.748	0.69501	0.0:0.0:0.0:1.0	.	576;576	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	A	576	ENSP00000373783:E576A	ENSP00000373783:E576A	E	-	2	0	LOXL2	23223279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.163000	0.67991	0.459000	0.35465	GAG		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			G	23167334	T	G	23167334	3	3	380	1	0	0	0	0	1	0	0	0	8902	1551	54	5	617	5	LOXL2	8	23167334	Missense_Mutation	SNP	T	TCGA-BP-4964-01A-01D-1462-08		23167334	123196688	43	21085											
DOCK5	80005	broad.mit.edu	37	8	25158135	25158135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:25158135G>T	ENST00000276440.7	+	9	852	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	DOCK5_ENST00000481100.1_Nonsense_Mutation_p.E270*	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	270					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E270*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GATGCCCAAGGAAATAGAGAA	0.403																																					Pancreas(145;34 1887 3271 10937 30165)											1	Substitution - Nonsense(1)	kidney(1)											158	140	146					8																	25158135		2203	4300	6503	SO:0001587	stop_gained	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.808G>T	8.37:g.25158135G>T	ENSP00000276440:p.Glu270*		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Nonsense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	38	7.189234	0.98125	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	.	.	.	X	270	.	ENSP00000276440:E270X	E	+	1	0	DOCK5	25214052	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.758000	0.98927	2.809000	0.96659	0.555000	0.69702	GAA		0.403	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25158135	G	T	25158135	4	4	380	1	0	0	0	0	0	1	0	0	4692	1175	41	4	842	4	DOCK5	8	25158135	Nonsense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	1990801	25158135	121205887	44	21086											
EPHX2	2053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27362496	27362496	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:27362496A>T	ENST00000521400.1	+	4	800	c.370A>T	c.(370-372)Aac>Tac	p.N124Y	EPHX2_ENST00000521780.1_Missense_Mutation_p.N58Y|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000518379.1_Missense_Mutation_p.N124Y|EPHX2_ENST00000380476.3_Missense_Mutation_p.N71Y	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	124	Phosphatase.|Phosphate binding.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.N124Y(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CATCCTCACCAACACCTGGCT	0.542																																																1	Substitution - Missense(1)	kidney(1)											100	86	91					8																	27362496		2203	4300	6503	SO:0001583	missense	2053			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.370A>T	8.37:g.27362496A>T	ENSP00000430269:p.Asn124Tyr		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251888	0.80135	.	.	ENSG00000120915	ENST00000521400;ENST00000518328;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.56	5.56	0.83823	Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	M	0.92784	3.345	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63238	-0.6682	10	0.87932	D	0	-2.5162	13.9483	0.64099	1.0:0.0:0.0:0.0	.	124;124;124	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	Y	124;124;58;71;128;124	ENSP00000430269:N124Y;ENSP00000430779:N124Y;ENSP00000430302:N58Y;ENSP00000369843:N71Y;ENSP00000427956:N124Y	ENSP00000369843:N71Y	N	+	1	0	EPHX2	27418413	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.912000	0.69948	2.241000	0.73720	0.533000	0.62120	AAC		0.542	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			T	27362496	A	T	27362496	3	4	380	1	0	0	0	0	1	0	0	0	5182	130	5	5	384	5	EPHX2	8	27362496	Missense_Mutation	SNP	A	TCGA-BP-4964-01A-01D-1462-08	2204361	27362496	119001526	45	21087											
ZNF572	137209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125989480	125989480	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:125989480G>A	ENST00000319286.5	+	3	1124	c.970G>A	c.(970-972)Gga>Aga	p.G324R		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G324R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AATACATACAGGAGAAAAGCC	0.388										HNSCC(60;0.17)																																						1	Substitution - Missense(1)	kidney(1)											51	54	53					8																	125989480		2203	4299	6502	SO:0001583	missense	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.970G>A	8.37:g.125989480G>A	ENSP00000319305:p.Gly324Arg		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486430	0.63962	.	.	ENSG00000180938	ENST00000319286	T	0.26223	1.75	4.85	3.97	0.46021	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000202	T	0.43077	0.1231	M	0.65498	2.005	0.34955	D	0.751625	P	0.52842	0.956	P	0.61003	0.882	T	0.58137	-0.7689	10	0.59425	D	0.04	-14.7617	10.5679	0.45184	0.0938:0.0:0.9062:0.0	.	324	Q7Z3I7	ZN572_HUMAN	R	324	ENSP00000319305:G324R	ENSP00000319305:G324R	G	+	1	0	ZNF572	126058661	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.876000	0.56115	1.270000	0.44297	0.655000	0.94253	GGA		0.388	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		A	125989480	G	A	125989480	3	1	380	1	0	0	0	0	1	0	0	0	18009	1001	35	2	976	2	ZNF572	8	125989480	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	98626984	125989480	20374542	46	21088											
EIF2C2	27161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141549418	141549418	+	Splice_Site	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:141549418C>T	ENST00000220592.5	-	16	2282		c.e16+1		AGO2_ENST00000519980.1_Splice_Site	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.?(1)									CAGAAACTCACCCGCTCGTTC	0.592																																																1	Unknown(1)	kidney(1)											79	80	80					8																	141549418		2203	4300	6503	SO:0001630	splice_region_variant	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2169+1G>A	8.37:g.141549418C>T			Q8TCZ5|Q8WV58|Q96ID1	Splice_Site	SNP	ENST00000220592.5	37	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530036	0.64860	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8564	0.92254	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF2C2	141618600	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	7.755000	0.85180	2.512000	0.84698	0.655000	0.94253	.		0.592	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4		Intron	T	141549418	C	T	141549418	5	4	380	1	0	0	0	0	0	0	1	0	5008	521	18	2	425	2	EIF2C2	8	141549418	Splice_Site	SNP	C	TCGA-BP-4964-01A-01D-1462-08	15559938	141549418	4814604	47	21089											
EIF2C2	27161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141566069	141566069	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:141566069T>C	ENST00000220592.5	-	10	1307	c.1195A>G	c.(1195-1197)Atc>Gtc	p.I399V	AGO2_ENST00000519980.1_Missense_Mutation_p.I399V	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	399					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.I399V(1)									TTGACCATGATTCCAAATTCA	0.577																																																1	Substitution - Missense(1)	kidney(1)											112	101	105					8																	141566069		2203	4300	6503	SO:0001583	missense	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1195A>G	8.37:g.141566069T>C	ENSP00000220592:p.Ile399Val		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886121	0.51908	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.07021	3.23;3.23	5.33	5.33	0.75918	.	0.050140	0.85682	D	0.000000	T	0.11495	0.0280	L	0.52759	1.655	0.47737	D	0.999501	B;B	0.10296	0.003;0.003	B;B	0.20184	0.028;0.008	T	0.03453	-1.1035	10	0.46703	T	0.11	-0.3359	15.595	0.76572	0.0:0.0:0.0:1.0	.	399;399	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	V	399	ENSP00000220592:I399V;ENSP00000430176:I399V	ENSP00000220592:I399V	I	-	1	0	EIF2C2	141635251	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.544000	0.60691	2.153000	0.67306	0.533000	0.62120	ATC		0.577	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			C	141566069	T	C	141566069	3	2	380	1	0	0	0	0	1	0	0	0	5008	1493	52	3	1424	3	EIF2C2	8	141566069	Missense_Mutation	SNP	T	TCGA-BP-4964-01A-01D-1462-08	16651	141566069	4797953	48	21090											
FAM120A	23196	broad.mit.edu;hgsc.bcm.edu	37	9	96214409	96214409	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr9:96214409G>T	ENST00000277165.6	+	1	406	c.212G>T	c.(211-213)tGg>tTg	p.W71L	FAM120A_ENST00000340893.4_Missense_Mutation_p.W71L|FAM120AOS_ENST00000375412.5_Intron|FAM120A_ENST00000333936.5_Missense_Mutation_p.W71L|FAM120AOS_ENST00000479094.1_5'Flank|FAM120A_ENST00000375389.3_Missense_Mutation_p.W71L|FAM120AOS_ENST00000423591.1_5'Flank	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	71						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.W71L(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCGGCCAGTGGAACCACATG	0.692																																																1	Substitution - Missense(1)	kidney(1)											11	14	13					9																	96214409		2117	4163	6280	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.212G>T	9.37:g.96214409G>T	ENSP00000277165:p.Trp71Leu		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295355	0.95574	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.64991	-0.13;0.59;0.54;0.6	3.5	3.5	0.40072	.	0.000000	0.40469	U	0.001086	T	0.77219	0.4098	M	0.71206	2.165	0.58432	D	0.999999	D;D	0.89917	0.996;1.0	D;D	0.85130	0.986;0.997	T	0.81369	-0.0964	10	0.87932	D	0	-3.7482	14.9742	0.71257	0.0:0.0:1.0:0.0	.	71;71	Q9NZB2;Q9NZB2-2	F120A_HUMAN;.	L	71	ENSP00000364538:W71L;ENSP00000277165:W71L;ENSP00000334918:W71L;ENSP00000344698:W71L	ENSP00000277165:W71L	W	+	2	0	FAM120A	95254230	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.785000	0.91822	1.669000	0.50854	0.462000	0.41574	TGG		0.692	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		T	96214409	G	T	96214409	3	4	380	1	0	0	0	0	1	0	0	0	5417	1357	47	4	214	4	FAM120A	9	96214409	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08		96214409	44999022	49	21091											
CORO2A	7464	hgsc.bcm.edu	37	9	100919886	100919887	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr9:100919886_100919887insG	ENST00000343933.5	-	2	313_314	c.56_57insC	c.(55-57)ccafs	p.P19fs	CORO2A_ENST00000375077.4_Frame_Shift_Ins_p.P19fs	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	19					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCTTGCTGGCTGGTTTGCCAAA	0.559																																																0																																										SO:0001589	frameshift_variant	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.57dupC	9.37:g.100919888_100919888dupG	ENSP00000343746:p.Pro19fs		Q5TBR5|Q92829|Q9BWS5	Frame_Shift_Ins	INS	ENST00000343933.5	37	CCDS6735.1																																																																																				0.559	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		G	100919887	-	G	100919886	7	5	380	1	0	1	1	0	0	0	0	0	3758	1567	55	0	1564	0	CORO2A	9	100919886	Frame_Shift_Ins	INS	-	TCGA-BP-4964-01A-01D-1462-08	4705477	100919886	40293545	50	21092											
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113168633	113168633	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr9:113168633delC	ENST00000401783.2	-	38	9583	c.9247delG	c.(9247-9249)gaafs	p.E3083fs	SVEP1_ENST00000374469.1_Frame_Shift_Del_p.E3060fs|SVEP1_ENST00000297826.5_Frame_Shift_Del_p.E1009fs	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3083	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCACATTTTCCTTCCAAGAG	0.473																																																0													151	151	151					9																	113168633		1965	4165	6130	SO:0001589	frameshift_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9247delG	9.37:g.113168633delC	ENSP00000384917:p.Glu3083fs		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Frame_Shift_Del	DEL	ENST00000401783.2	37	CCDS48004.1																																																																																				0.473	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				-	113168633	C	-	113168633	7	5	380	1	0	1	0	1	0	0	0	0	15425	864	30	0	1512	0	SVEP1	9	113168633	Frame_Shift_Del	DEL	C	TCGA-BP-4964-01A-01D-1462-08	12248747	113168633	28044798	51	21093											
ZNF79	7633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130207059	130207060	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr9:130207059_130207060CT>TC	ENST00000342483.5	+	5	1486_1487	c.1080_1081CT>TC	c.(1078-1083)ccCTac>ccTCac	p.Y361H	ZNF79_ENST00000543471.1_Missense_Mutation_p.Y337H|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P360>?(1)|p.Y361H(1)|p.P360P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGGAGAAGCCCTACAGATGTGC	0.574																																																3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	Exception_encountered	9.37:g.130207059_130207060delinsTC	ENSP00000362446:p.Tyr361His		Q5VVW1|Q96NV1	Silent|Missense_Mutation	SNP	ENST00000342483.5	37	CCDS6871.1																																																																																				0.574	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		TC	130207060	CT	TC	130207059	3	4	380	1	0	0	0	0	1	0	0	0	18166	668	24	2	1098	2	ZNF79	9	130207059	Missense_Mutation	DNP	CT	TCGA-BP-4964-01A-01D-1462-08	17038426	130207059	11006372	52	21094											
FRMD4A	55691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	13702514	13702514	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr10:13702514G>A	ENST00000357447.2	-	20	2068	c.1700C>T	c.(1699-1701)tCt>tTt	p.S567F	FRMD4A_ENST00000358621.4_Missense_Mutation_p.S552F|FRMD4A_ENST00000378503.1_Missense_Mutation_p.S567F	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	567					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.S567F(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTTGTGAGGAGAATGTAGGGG	0.587											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											100	97	98					10																	13702514		2203	4300	6503	SO:0001583	missense	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1700C>T	10.37:g.13702514G>A	ENSP00000350032:p.Ser567Phe	689	A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693543	0.88735	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.84370	-1.84;-1.84;-1.84	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	P	0.56788	0.806	D	0.88927	0.3370	10	0.59425	D	0.04	-10.4462	19.6212	0.95656	0.0:0.0:1.0:0.0	.	567	Q9P2Q2	FRM4A_HUMAN	F	552;567;567	ENSP00000351438:S552F;ENSP00000350032:S567F;ENSP00000367764:S567F	ENSP00000350032:S567F	S	-	2	0	FRMD4A	13742520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.803000	0.85983	2.648000	0.89879	0.462000	0.41574	TCT		0.587	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		A	13702514	G	A	13702514	3	1	380	1	0	0	0	0	1	0	0	0	6053	942	33	2	1439	2	FRMD4A	10	13702514	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08		13702514	121832233	53	21095											
PARVA	55742	broad.mit.edu;hgsc.bcm.edu	37	11	12518075	12518075	+	Silent	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:12518075G>T	ENST00000550549.1	+	5	520	c.471G>T	c.(469-471)ctG>ctT	p.L157L	PARVA_ENST00000538608.1_Silent_p.L104L|PARVA_ENST00000539723.1_Silent_p.L157L|PARVA_ENST00000334956.8_Silent_p.L197L			Q9NVD7	PARVA_HUMAN	parvin, alpha	157	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L157L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		AGCAAAAACTGCAGACTGTCC	0.473																																																1	Substitution - coding silent(1)	kidney(1)											59	60	60					11																	12518075		1912	4130	6042	SO:0001819	synonymous_variant	55742			AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"Parvins"	14652	protein-coding gene	gene with protein product		608120	"matrix-remodelling associated 2"	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.471G>T	11.37:g.12518075G>T			Q96C85|Q9HA48	Silent	SNP	ENST00000550549.1	37																																																																																					0.473	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018222		T	12518075	G	T	12518075	2	4	380	1	0	0	0	0	0	0	0	1	11470	1306	46	4		4	PARVA	11	12518075	Silent	SNP	G	TCGA-BP-4964-01A-01D-1462-08		12518075	122488441	54	21096											
INCENP	3619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61897891	61897892	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:61897891_61897892AC>TT	ENST00000394818.3	+	4	1094_1095	c.892_893AC>TT	c.(892-894)ACg>TTg	p.T298L	INCENP_ENST00000278849.4_Missense_Mutation_p.T298L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	298					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)		p.T298>?(2)|p.T298M(2)|p.T298S(2)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGGCTCTCGCACGGACTCTCAA	0.629																																																6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	Exception_encountered	11.37:g.61897891_61897892delinsTT	ENSP00000378295:p.Thr298Leu		A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	CCDS44624.1																																																																																				0.629	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		TT	61897892	AC	TT	61897891	3	4	380	1	0	0	0	0	1	0	0	0	7735	159	6	5	902	5	INCENP	11	61897891	Missense_Mutation	DNP	AC	TCGA-BP-4964-01A-01D-1462-08	49379816	61897891	73108625	55	21097											
ME3	10873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	86159278	86159278	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:86159278T>C	ENST00000393324.3	-	10	1404	c.1151A>G	c.(1150-1152)cAt>cGt	p.H384R	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.H384R|ME3_ENST00000359636.2_Missense_Mutation_p.H384R	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	384					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.H384R(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CTCCTTTTCATGGTTCAGGTG	0.532																																																1	Substitution - Missense(1)	kidney(1)											161	113	129					11																	86159278		2202	4299	6501	SO:0001583	missense	10873			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1151A>G	11.37:g.86159278T>C	ENSP00000376998:p.His384Arg		B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588731	0.28357	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.61	3.09	0.35607	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.179701	0.64402	D	0.000010	T	0.34221	0.0890	L	0.46741	1.465	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.10941	-1.0608	9	.	.	.	-12.4078	11.9783	0.53105	0.0:0.0:0.2743:0.7257	.	384	Q16798	MAON_HUMAN	R	384	ENSP00000352657:H384R;ENSP00000440246:H384R;ENSP00000376998:H384R;ENSP00000431182:H384R	.	H	-	2	0	ME3	85836926	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.773000	0.62331	0.911000	0.36747	0.528000	0.53228	CAT		0.532	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			C	86159278	T	C	86159278	3	2	380	1	0	0	0	0	1	0	0	0	9421	1464	51	3	683	3	ME3	11	86159278	Missense_Mutation	SNP	T	TCGA-BP-4964-01A-01D-1462-08	24261387	86159278	48847238	56	21098											
GRM5	2915	broad.mit.edu;hgsc.bcm.edu	37	11	88780709	88780709	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:88780709T>G	ENST00000305447.4	-	1	481	c.332A>C	c.(331-333)gAg>gCg	p.E111A	GRM5_ENST00000305432.5_Missense_Mutation_p.E111A|GRM5_ENST00000393294.3_Missense_Mutation_p.E111A|GRM5_ENST00000455756.2_Missense_Mutation_p.E111A|GRM5_ENST00000393297.1_Missense_Mutation_p.E111A|GRM5_ENST00000418177.2_Missense_Mutation_p.E111A	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	111					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.E111V(2)|p.E111A(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCTTATGAACTCAATGCTCTG	0.517																																																4	Substitution - Missense(4)	lung(2)|kidney(2)											75	65	68					11																	88780709		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.332A>C	11.37:g.88780709T>G	ENSP00000306138:p.Glu111Ala		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095362	0.76870	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	L	0.51914	1.62	0.58432	D	0.999999	P;D;D	0.89917	0.928;0.999;1.0	P;D;D	0.87578	0.831;0.988;0.998	T	0.76476	-0.2945	9	.	.	.	.	15.4282	0.75072	0.0:0.0:0.0:1.0	.	111;111;111	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	A	111	ENSP00000402912:E111A;ENSP00000405690:E111A;ENSP00000305905:E111A;ENSP00000306138:E111A;ENSP00000376975:E111A;ENSP00000376972:E111A	.	E	-	2	0	GRM5	88420357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.884000	0.87274	2.033000	0.60031	0.460000	0.39030	GAG		0.517	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		G	88780709	T	G	88780709	3	3	380	1	0	0	0	0	1	0	0	0	6802	1551	54	5	3342	5	GRM5	11	88780709	Missense_Mutation	SNP	T	TCGA-BP-4964-01A-01D-1462-08	2621431	88780709	46225807	57	21099											
AMOTL1	154810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94554897	94554897	+	Silent	SNP	C	C	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:94554897C>G	ENST00000433060.2	+	4	1464	c.1323C>G	c.(1321-1323)gcC>gcG	p.A441A	AMOTL1_ENST00000317829.8_Silent_p.A391A|AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	441					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.A441A(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGGAGCGAGCCCAGCAAATGG	0.602																																																1	Substitution - coding silent(1)	kidney(1)											73	77	76					11																	94554897		1980	4161	6141	SO:0001819	synonymous_variant	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1323C>G	11.37:g.94554897C>G			Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	CCDS44712.1																																																																																				0.602	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		G	94554897	C	G	94554897	2	3	380	1	0	0	0	0	0	0	0	1	583	610	22	4		4	AMOTL1	11	94554897	Silent	SNP	C	TCGA-BP-4964-01A-01D-1462-08	5774188	94554897	40451619	58	21100											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108236074	108236074	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:108236074A>G	ENST00000452508.2	+	64	9199	c.9010A>G	c.(9010-9012)Aaa>Gaa	p.K3004E	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.K3004E			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3004					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.K3004E(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAGTTTCAACAAAGTAGCTGA	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	2	Substitution - Missense(2)	kidney(2)											119	116	117					11																	108236074		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9010A>G	11.37:g.108236074A>G	ENSP00000388058:p.Lys3004Glu		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864010	0.91511	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01538	4.79;4.79	5.22	5.22	0.72569	Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.047335	0.85682	D	0.000000	T	0.09335	0.0230	M	0.78637	2.42	0.80722	D	1	D	0.64830	0.994	D	0.65773	0.938	T	0.14448	-1.0472	10	0.32370	T	0.25	.	15.3219	0.74129	1.0:0.0:0.0:0.0	.	3004	Q13315	ATM_HUMAN	E	3004	ENSP00000278616:K3004E;ENSP00000388058:K3004E	ENSP00000278616:K3004E	K	+	1	0	ATM	107741284	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.074000	0.76791	2.202000	0.70862	0.529000	0.55759	AAA		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		G	108236074	A	G	108236074	3	3	380	1	0	0	0	0	1	0	0	0	1109	131	5	3	9256	3	ATM	11	108236074	Missense_Mutation	SNP	A	TCGA-BP-4964-01A-01D-1462-08	13681177	108236074	26770442	59	21101											
WNT5B	81029	broad.mit.edu	37	12	1748873	1748873	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:1748873C>T	ENST00000397196.2	+	4	584	c.352C>T	c.(352-354)Cac>Tac	p.H118Y	WNT5B_ENST00000310594.3_Missense_Mutation_p.H118Y|WNT5B_ENST00000537031.1_Missense_Mutation_p.H118Y|WNT5B_ENST00000542408.1_Intron	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	118					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)	p.H118Y(1)		skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CGCCTTCACCCACGCGGTGAG	0.736																																																1	Substitution - Missense(1)	kidney(1)											8	8	8					12																	1748873		2111	4141	6252	SO:0001583	missense	81029			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.352C>T	12.37:g.1748873C>T	ENSP00000380379:p.His118Tyr		A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	T	0.029	-1.349526	0.01266	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	4.59	3.43	0.39272	.	0.057149	0.64402	N	0.000001	T	0.38772	0.1053	N	0.01188	-0.97	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37384	-0.9708	10	0.02654	T	1	.	8.1953	0.31392	0.0:0.1687:0.0:0.8313	.	118	Q9H1J7	WNT5B_HUMAN	Y	118	ENSP00000438414:H118Y;ENSP00000445395:H118Y;ENSP00000439312:H118Y;ENSP00000308887:H118Y;ENSP00000380379:H118Y;ENSP00000442348:H118Y	ENSP00000308887:H118Y	H	+	1	0	WNT5B	1619134	1.000000	0.71417	0.917000	0.36280	0.009000	0.06853	5.035000	0.64158	0.160000	0.19432	-0.817000	0.03123	CAC		0.736	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			T	1748873	C	T	1748873	3	4	380	1	0	0	0	0	1	0	0	0	17397	594	21	2	362	2	WNT5B	12	1748873	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08		1748873	132103022	60	21102											
MRPL51	51258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6602132	6602132	+	Missense_Mutation	SNP	G	G	C	rs11559083		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:6602132G>C	ENST00000229238.3	-	2	547	c.86C>G	c.(85-87)cCt>cGt	p.P29R	NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	29					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.P29R(1)		kidney(2)|large_intestine(1)|lung(3)	6						GATCAATCTAGGCACACCTGG	0.517																																																1	Substitution - Missense(1)	kidney(1)											77	81	80					12																	6602132		2203	4300	6503	SO:0001583	missense	51258			AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"Mitochondrial ribosomal proteins / large subunits"	14044	protein-coding gene	gene with protein product		611855	"mitochondrial ribosomal protein 64"	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.86C>G	12.37:g.6602132G>C	ENSP00000229238:p.Pro29Arg		Q96Q57|Q9BQ36|Q9P0N7	Missense_Mutation	SNP	ENST00000229238.3	37	CCDS8547.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862964	0.32884	.	.	ENSG00000111639	ENST00000229238	T	0.50001	0.76	4.96	4.96	0.65561	.	0.276343	0.42172	D	0.000756	T	0.32823	0.0842	N	0.19112	0.55	0.09310	N	0.999999	B	0.21821	0.061	B	0.18263	0.021	T	0.19321	-1.0309	10	0.39692	T	0.17	-11.7644	12.6508	0.56759	0.0:0.1666:0.8334:0.0	.	29	Q4U2R6	RM51_HUMAN	R	29	ENSP00000229238:P29R	ENSP00000229238:P29R	P	-	2	0	MRPL51	6472393	0.474000	0.25886	0.272000	0.24630	0.002000	0.02628	2.825000	0.48096	2.288000	0.76882	0.462000	0.41574	CCT		0.517	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		C	6602132	G	C	6602132	3	2	380	1	0	0	0	0	1	0	0	0	9817	1000	35	4	308	4	MRPL51	12	6602132	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	4853259	6602132	127249763	61	21103	164	2									
MRPL51	51258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6602137	6602137	+	Splice_Site	SNP	A	A	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:6602137A>C	ENST00000229238.3	-	2	542	c.81T>G	c.(79-81)ggT>ggG	p.G27G	NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	27					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.G27G(1)		kidney(2)|large_intestine(1)|lung(3)	6						ATCTAGGCACACCTGGGGATG	0.512																																																1	Substitution - coding silent(1)	kidney(1)											74	78	77					12																	6602137		2203	4300	6503	SO:0001630	splice_region_variant	51258			AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"Mitochondrial ribosomal proteins / large subunits"	14044	protein-coding gene	gene with protein product		611855	"mitochondrial ribosomal protein 64"	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.80-1T>G	12.37:g.6602137A>C			Q96Q57|Q9BQ36|Q9P0N7	Silent	SNP	ENST00000229238.3	37	CCDS8547.1																																																																																				0.512	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497	Silent	C	6602137	A	C	6602137	5	2	380	1	0	0	0	0	0	0	1	0	9817	173	6	5	313	5	MRPL51	12	6602137	Splice_Site	SNP	A	TCGA-BP-4964-01A-01D-1462-08	5	6602137	127249758	62	21104	164	2									
MLL2	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49443747	49443747	+	Silent	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:49443747G>A	ENST00000301067.7	-	11	3623	c.3624C>T	c.(3622-3624)atC>atT	p.I1208I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1208					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.I935I(1)|p.I1208I(1)									TCAGATTAGAGATCTCGTTAA	0.607																																																2	Substitution - coding silent(2)	kidney(2)											48	53	51					12																	49443747		1982	4160	6142	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3624C>T	12.37:g.49443747G>A			O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			A	49443747	G	A	49443747	2	1	380	1	0	0	0	0	0	0	0	1	9623	932	33	2		2	MLL2	12	49443747	Silent	SNP	G	TCGA-BP-4964-01A-01D-1462-08	42841610	49443747	84408148	63	21105											
LRP1	4035	broad.mit.edu;hgsc.bcm.edu	37	12	57588284	57588284	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:57588284C>A	ENST00000243077.3	+	49	8532	c.8066C>A	c.(8065-8067)cCa>cAa	p.P2689Q	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2689	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.P2689Q(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGCGACTGCCCAGGTGGGCGG	0.672																																																1	Substitution - Missense(1)	kidney(1)											77	79	78					12																	57588284		2203	4298	6501	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8066C>A	12.37:g.57588284C>A	ENSP00000243077:p.Pro2689Gln		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543375	0.45280	.	.	ENSG00000123384	ENST00000243077	T	0.59083	0.29	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	T	0.70439	0.3224	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63739	-0.6569	10	0.12430	T	0.62	.	17.2534	0.87048	0.0:1.0:0.0:0.0	.	2689	Q07954	LRP1_HUMAN	Q	2689	ENSP00000243077:P2689Q	ENSP00000243077:P2689Q	P	+	2	0	LRP1	55874551	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.969000	0.70422	2.598000	0.87819	0.462000	0.41574	CCA		0.672	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57588284	C	A	57588284	3	1	380	1	0	0	0	0	1	0	0	0	8953	594	21	4	8260	4	LRP1	12	57588284	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	8144537	57588284	76263611	64	21106											
AVIL	10677	broad.mit.edu	37	12	58204236	58204236	+	Silent	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:58204236C>T	ENST00000257861.3	-	6	1087	c.657G>A	c.(655-657)ctG>ctA	p.L219L	AVIL_ENST00000537081.1_Silent_p.L212L	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	219	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.L219L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGACCTTCATCAGCTCTGGGC	0.517																																																1	Substitution - coding silent(1)	kidney(1)											130	112	118					12																	58204236		2203	4300	6503	SO:0001819	synonymous_variant	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.657G>A	12.37:g.58204236C>T			B2RAU7|Q2NKM9	Silent	SNP	ENST00000257861.3	37	CCDS8959.1																																																																																				0.517	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		T	58204236	C	T	58204236	2	4	380	1	0	0	0	0	0	0	0	1	1227	813	29	2		2	AVIL	12	58204236	Silent	SNP	C	TCGA-BP-4964-01A-01D-1462-08	615952	58204236	75647659	65	21107											
BEST3	144453	hgsc.bcm.edu	37	12	70088220	70088220	+	Frame_Shift_Del	DEL	T	T	-	rs566733141	byFrequency	TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:70088220delT	ENST00000330891.5	-	3	403	c.177delA	c.(175-177)aaafs	p.K59fs	BEST3_ENST00000551160.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Frame_Shift_Del_p.K59fs|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_5'UTR	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	59					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAAAGTAACGTTTTTGGACTC	0.373													TTTTT|TTTTT|TTTT|deletion	53	0.0105831	0.0008	0.0187	5008	,	,		17586	0.0		0.0288	False		,,,				2504	0.0102															0										3,28,3577		1,0,1,2,24,1776	101	94	96			5.1	1	12		98	0,284,7584		0,0,0,8,268,3658	no	codingComplex	BEST3	NM_032735.2		1,0,1,10,292,5434	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6096,0.8592,2.7449			70088220	3,312,11161	1872	4113	5985	SO:0001589	frameshift_variant	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.177delA	12.37:g.70088220delT	ENSP00000332413:p.Lys59fs		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Del	DEL	ENST00000330891.5	37	CCDS8992.2																																																																																				0.373	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		-	70088220	T	-	70088220	7	5	380	1	0	1	0	1	0	0	0	0	1406	1722	60	0	1861	0	BEST3	12	70088220	Frame_Shift_Del	DEL	T	TCGA-BP-4964-01A-01D-1462-08	11883984	70088220	63763675	66	21108											
NOS1	4842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117710301	117710301	+	Silent	SNP	G	G	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:117710301G>C	ENST00000338101.4	-	9	1732	c.1728C>G	c.(1726-1728)ctC>ctG	p.L576L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.L576L			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.L576L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CAATCTCTAGGAGCATGTTGG	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)											1	Substitution - coding silent(1)	kidney(1)											58	64	62					12																	117710301		2192	4298	6490	SO:0001819	synonymous_variant	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1728C>G	12.37:g.117710301G>C				Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			C	117710301	G	C	117710301	2	2	380	1	0	0	0	0	0	0	0	1	10543	1161	41	4		4	NOS1	12	117710301	Silent	SNP	G	TCGA-BP-4964-01A-01D-1462-08	47622081	117710301	16141594	67	21109											
TSSK4	283629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24675911	24675911	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr14:24675911G>T	ENST00000287913.6	+	2	590	c.422G>T	c.(421-423)aGc>aTc	p.S141I	TSSK4_ENST00000556621.1_Missense_Mutation_p.S65I|TSSK4_ENST00000428351.2_Intron|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000339917.5_Missense_Mutation_p.S141I|TM9SF1_ENST00000556387.1_Intron			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S141I(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TACCTGCACAGCAAGAGCATC	0.592																																																2	Substitution - Missense(2)	kidney(2)											56	51	52					14																	24675911		2203	4300	6503	SO:0001583	missense	283629			AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"chromosome 14 open reading frame 20"	610711	"serine/threonine kinase 22E"	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.422G>T	14.37:g.24675911G>T	ENSP00000287913:p.Ser141Ile		Q2TA60|Q6ZNM2	Missense_Mutation	SNP	ENST00000287913.6	37	CCDS9618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.79|16.79	3.219516|3.219516	0.58560|0.58560	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000555092|ENST00000339917;ENST00000556621;ENST00000287913	.|T;T;T	.|0.29397	.|1.57;1.57;1.57	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000009	T|T	0.49541|0.49541	0.1563|0.1563	L|L	0.61387|0.61387	1.9|1.9	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58620	.|0.979;0.983	.|P;P	.|0.60789	.|0.808;0.879	T|T	0.47142|0.47142	-0.9140|-0.9140	5|10	.|0.56958	.|D	.|0.05	.|.	15.467|15.467	0.75409|0.75409	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|141;141	.|Q6SA08-2;Q6SA08	.|.;TSSK4_HUMAN	H|I	135|141;65;141	.|ENSP00000339179:S141I;ENSP00000452054:S65I;ENSP00000287913:S141I	.|ENSP00000287913:S141I	Q|S	+|+	3|2	2|0	TSSK4|TSSK4	23745751|23745751	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.409000|2.409000	0.44583|0.44583	2.639000|2.639000	0.89480|0.89480	0.462000|0.462000	0.41574|0.41574	CAG|AGC		0.592	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944		T	24675911	G	T	24675911	3	4	380	1	0	0	0	0	1	0	0	0	16676	971	34	4	428	4	TSSK4	14	24675911	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08		24675911	82673629	68	21110											
PSMA3	5684	hgsc.bcm.edu	37	14	58724704	58724705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr14:58724704_58724705insT	ENST00000216455.4	+	5	482_483	c.392_393insT	c.(391-396)ccttttfs	p.PF131fs	PSMA3_ENST00000412908.2_Frame_Shift_Ins_p.PF131fs|PSMA3_ENST00000557508.1_Frame_Shift_Ins_p.PF56fs	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	131					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						GCTGTTAGACCTTTTGGCTGCA	0.371																																																0																																										SO:0001589	frameshift_variant	5684				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.396dupT	14.37:g.58724708_58724708dupT	ENSP00000216455:p.Pro131fs		B2RCK6|Q86U83|Q8N1D8|Q9BS70	Frame_Shift_Ins	INS	ENST00000216455.4	37	CCDS9731.1																																																																																				0.371	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1	NM_002788		T	58724705	-	T	58724704	7	5	380	1	0	1	1	0	0	0	0	0	12673	681	24	0	410	0	PSMA3	14	58724704	Frame_Shift_Ins	INS	-	TCGA-BP-4964-01A-01D-1462-08	34048793	58724704	48624836	69	21111											
PLEKHH1	57475	broad.mit.edu;hgsc.bcm.edu	37	14	68038960	68038960	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr14:68038960C>A	ENST00000329153.5	+	11	1826	c.1694C>A	c.(1693-1695)tCa>tAa	p.S565*		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	565						cytoskeleton (GO:0005856)		p.S565*(1)|p.S604*(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGCGCACCTCATCCTACTCC	0.662																																																2	Substitution - Nonsense(2)	kidney(2)											27	28	28					14																	68038960		2060	4203	6263	SO:0001587	stop_gained	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1694C>A	14.37:g.68038960C>A	ENSP00000330278:p.Ser565*		A6H8X6|Q6PJL4|Q6ZWC7	Nonsense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	40	8.414238	0.98801	.	.	ENSG00000054690	ENST00000329153	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8555	0.78975	0.0:1.0:0.0:0.0	.	.	.	.	X	565	.	ENSP00000330278:S565X	S	+	2	0	PLEKHH1	67108713	1.000000	0.71417	0.953000	0.39169	0.993000	0.82548	5.269000	0.65542	2.387000	0.81309	0.555000	0.69702	TCA		0.662	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		A	68038960	C	A	68038960	4	1	380	1	0	0	0	0	0	1	0	0	12078	838	29	4	1732	4	PLEKHH1	14	68038960	Nonsense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	9314256	68038960	39310580	70	21112											
KIAA1409	57578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94088745	94088745	+	Silent	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr14:94088745C>T	ENST00000393151.2	+	30	5166	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	UNC79_ENST00000555664.1_Silent_p.D1722D|UNC79_ENST00000256339.4_Silent_p.D1545D|UNC79_ENST00000553484.1_Silent_p.D1744D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1722					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1545D(1)|p.D1744D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACCCTATGGACGCCGAAGGAT	0.512																																																2	Substitution - coding silent(2)	kidney(2)											68	72	71					14																	94088745		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5166C>T	14.37:g.94088745C>T			B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.512	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94088745	C	T	94088745	2	4	380	1	0	0	0	0	0	0	0	1	8232	535	19	1		1	KIAA1409	14	94088745	Silent	SNP	C	TCGA-BP-4964-01A-01D-1462-08	26049785	94088745	13260795	71	21113											
C15orf41	84529	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	36984363	36984363	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr15:36984363G>T	ENST00000566621.1	+	7	713	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	C15orf41_ENST00000338183.4_Missense_Mutation_p.D57Y|C15orf41_ENST00000567389.1_Missense_Mutation_p.D57Y|C15orf41_ENST00000569302.1_Missense_Mutation_p.D155Y|C15orf41_ENST00000437989.2_Missense_Mutation_p.D155Y|C15orf41_ENST00000562877.1_Missense_Mutation_p.D57Y	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	155								p.D155Y(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ACCACTAGTGGACTGCATCAA	0.438																																																1	Substitution - Missense(1)	kidney(1)											93	86	88					15																	36984363		1879	4110	5989	SO:0001583	missense	84529			BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.463G>T	15.37:g.36984363G>T	ENSP00000455397:p.Asp155Tyr		B2RD87	Missense_Mutation	SNP	ENST00000566621.1	37	CCDS45215.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592667	0.46214	.	.	ENSG00000186073	ENST00000437989;ENST00000338183	T	0.54071	0.59	6.03	5.11	0.69529	.	0.090481	0.85682	D	0.000000	T	0.67487	0.2898	M	0.78344	2.41	0.80722	D	1	D	0.63046	0.992	P	0.56042	0.79	T	0.71414	-0.4600	10	0.72032	D	0.01	-18.5444	14.727	0.69351	0.0686:0.0:0.9313:0.0	.	155	Q9Y2V0	CO041_HUMAN	Y	155;57	ENSP00000401362:D155Y	ENSP00000342433:D57Y	D	+	1	0	C15orf41	34771655	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	GAC		0.438	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		T	36984363	G	T	36984363	3	4	380	1	0	0	0	0	1	0	0	0	1797	1174	41	4	489	4	C15orf41	15	36984363	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08		36984363	65547029	72	21114											
DENND4A	10260	broad.mit.edu;hgsc.bcm.edu	37	15	65957783	65957783	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr15:65957783C>T	ENST00000431932.2	-	29	5335	c.5127G>A	c.(5125-5127)atG>atA	p.M1709I	DENND4A_ENST00000443035.3_Missense_Mutation_p.M1752I	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1709					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.M1711I(1)|p.M1752I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TATCTTCAGACATACAGTGGC	0.308																																																2	Substitution - Missense(2)	kidney(2)											111	109	110					15																	65957783		1866	4119	5985	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5127G>A	15.37:g.65957783C>T	ENSP00000396830:p.Met1709Ile		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852275	0.51270	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04758	3.58;3.56	5.71	5.71	0.89125	.	0.200060	0.53938	D	0.000057	T	0.08133	0.0203	L	0.44542	1.39	0.48696	D	0.99969	P;D	0.65815	0.94;0.995	P;P	0.47251	0.542;0.53	T	0.32798	-0.9893	10	0.30854	T	0.27	.	15.4549	0.75305	0.1393:0.8607:0.0:0.0	.	1752;1709	E7EPL3;Q7Z401	.;MYCPP_HUMAN	I	1752;1709	ENSP00000391167:M1752I;ENSP00000396830:M1709I	ENSP00000396830:M1709I	M	-	3	0	DENND4A	63744837	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.970000	0.56824	2.688000	0.91661	0.655000	0.94253	ATG		0.308	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		T	65957783	C	T	65957783	3	4	380	1	0	0	0	0	1	0	0	0	4435	478	17	2	480	2	DENND4A	15	65957783	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	28973420	65957783	36573609	73	21115											
BRD7	29117	broad.mit.edu;hgsc.bcm.edu	37	16	50402667	50402667	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr16:50402667T>C	ENST00000394688.3	-	1	178	c.19A>G	c.(19-21)Aag>Gag	p.K7E	BRD7_ENST00000394689.2_Missense_Mutation_p.K7E|RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	7	Lys-rich.				cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.K7E(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GACTTGTGCTTCTTGTGCTTC	0.746																																																1	Substitution - Missense(1)	kidney(1)											27	26	26					16																	50402667		2180	4262	6442	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.19A>G	16.37:g.50402667T>C	ENSP00000378180:p.Lys7Glu		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157269	0.78114	.	.	ENSG00000166164	ENST00000394688;ENST00000394689;ENST00000401491	T;T	0.47869	0.85;0.83	3.0	1.9	0.25705	.	0.000000	0.85682	U	0.000000	T	0.43411	0.1246	M	0.71206	2.165	0.46774	D	0.999196	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.36359	-0.9751	10	0.66056	D	0.02	.	7.5994	0.28067	0.0:0.107:0.0:0.893	.	7;7	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	E	7	ENSP00000378180:K7E;ENSP00000378181:K7E	ENSP00000378180:K7E	K	-	1	0	BRD7	48960168	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.442000	0.44873	0.264000	0.21851	0.391000	0.25812	AAG		0.746	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		C	50402667	T	C	50402667	3	2	380	1	0	0	0	0	1	0	0	0	1507	1792	62	3	2007	3	BRD7	16	50402667	Missense_Mutation	SNP	T	TCGA-BP-4964-01A-01D-1462-08		50402667	39952086	74	21116											
SLC9A5	6553	broad.mit.edu;hgsc.bcm.edu	37	16	67290903	67290903	+	Missense_Mutation	SNP	C	C	T	rs35182421		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr16:67290903C>T	ENST00000299798.11	+	7	1287	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	408					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.R408W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGGGGCCTGCGGGGGGCTGT	0.562																																																1	Substitution - Missense(1)	kidney(1)											81	84	83					16																	67290903		1985	4171	6156	SO:0001583	missense	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1222C>T	16.37:g.67290903C>T	ENSP00000299798:p.Arg408Trp		A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001265	0.74818	.	.	ENSG00000135740	ENST00000299798	T	0.24350	1.86	5.63	4.67	0.58626	Cation/H+ exchanger (1);	0.119407	0.64402	D	0.000019	T	0.65396	0.2687	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79193	-0.1904	10	0.87932	D	0	.	15.2466	0.73509	0.1416:0.8584:0.0:0.0	.	408	Q14940	SL9A5_HUMAN	W	408	ENSP00000299798:R408W	ENSP00000299798:R408W	R	+	1	2	SLC9A5	65848404	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	4.800000	0.62524	1.491000	0.48482	0.655000	0.94253	CGG		0.562	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			T	67290903	C	T	67290903	3	4	380	1	0	0	0	0	1	0	0	0	14723	759	27	1	1248	1	SLC9A5	16	67290903	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	16888236	67290903	23063850	75	21117											
CNTNAP4	85445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	76481968	76481968	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr16:76481968T>C	ENST00000476707.1	+	4	746	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S199P|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S175P|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S199P			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	200					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.S175P(2)|p.S199P(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGATCAAAAATCCCTGAGCCC	0.378																																																3	Substitution - Missense(3)	kidney(3)											77	77	77					16																	76481968		2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.607T>C	16.37:g.76481968T>C	ENSP00000417628:p.Ser203Pro		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	T	10.65	1.410011	0.25465	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.21	2.91	0.33838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.187943	0.26133	N	0.026159	T	0.60025	0.2237	.	.	.	0.30190	N	0.799587	B;B;B;B	0.14438	0.001;0.01;0.001;0.002	B;B;B;B	0.20577	0.005;0.03;0.003;0.013	T	0.49293	-0.8955	9	0.23891	T	0.37	.	4.5092	0.11903	0.0:0.2421:0.1622:0.5956	.	175;203;175;200	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	P	199;199;175;203	ENSP00000306893:S199P;ENSP00000439733:S199P;ENSP00000418741:S175P;ENSP00000417628:S203P	ENSP00000306893:S199P	S	+	1	0	CNTNAP4	75039469	0.997000	0.39634	0.995000	0.50966	0.996000	0.88848	2.221000	0.42917	0.420000	0.25954	0.460000	0.39030	TCC		0.378	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		C	76481968	T	C	76481968	3	2	380	1	0	0	0	0	1	0	0	0	3651	1435	50	3	629	3	CNTNAP4	16	76481968	Missense_Mutation	SNP	T	TCGA-BP-4964-01A-01D-1462-08	9191065	76481968	13872785	76	21118											
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3921211	3921211	+	Silent	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr17:3921211C>T	ENST00000381638.2	-	47	7684	c.7560G>A	c.(7558-7560)cgG>cgA	p.R2520R		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2520							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R2520R(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGGGCTGCCACCGCTGAGCCA	0.537																																																1	Substitution - coding silent(1)	kidney(1)											131	108	116					17																	3921211		2203	4300	6503	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7560G>A	17.37:g.3921211C>T			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	CCDS11043.1																																																																																				0.537	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		T	3921211	C	T	3921211	2	4	380	1	0	0	0	0	0	0	0	1	18260	494	18	2		2	ZZEF1	17	3921211	Silent	SNP	C	TCGA-BP-4964-01A-01D-1462-08		3921211	77273999	77	21119											
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4005690	4005690	+	Silent	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr17:4005690A>G	ENST00000381638.2	-	9	1717	c.1593T>C	c.(1591-1593)acT>acC	p.T531T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	531							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.T531T(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGCCTGAAGAGTCAACTGGA	0.448																																																1	Substitution - coding silent(1)	kidney(1)											139	118	125					17																	4005690		2203	4300	6503	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1593T>C	17.37:g.4005690A>G			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	CCDS11043.1																																																																																				0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		G	4005690	A	G	4005690	2	3	380	1	0	0	0	0	0	0	0	1	18260	291	11	3		3	ZZEF1	17	4005690	Silent	SNP	A	TCGA-BP-4964-01A-01D-1462-08	84479	4005690	77189520	78	21120											
CYTSB	92521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	20150580	20150580	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr17:20150580T>A	ENST00000261503.5	+	9	2597	c.2546T>A	c.(2545-2547)cTa>cAa	p.L849Q	SPECC1_ENST00000395530.2_Missense_Mutation_p.L768Q|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.L189Q|SPECC1_ENST00000395527.4_Missense_Mutation_p.L849Q	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	849					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.L849Q(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGAAGTCCCCTAAGTGGGATA	0.468																																																1	Substitution - Missense(1)	kidney(1)											51	53	52					17																	20150580		2203	4300	6503	SO:0001583	missense	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2546T>A	17.37:g.20150580T>A	ENSP00000261503:p.Leu849Gln		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478831	0.63849	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;T	0.55052	0.54;0.54	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.68247	0.2980	M	0.70275	2.135	0.51233	D	0.999914	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.70777	-0.4780	10	0.62326	D	0.03	-12.6433	10.039	0.42146	0.0:0.0:0.0:1.0	.	849;768;849	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	Q	849;849;189;768	ENSP00000261503:L849Q;ENSP00000438294:L189Q	ENSP00000261503:L849Q	L	+	2	0	SPECC1	20091172	0.975000	0.34042	0.680000	0.29994	0.961000	0.63080	4.096000	0.57734	1.929000	0.55896	0.477000	0.44152	CTA		0.468	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		A	20150580	T	A	20150580	3	1	380	1	0	0	0	0	1	0	0	0	4212	1522	53	5	2646	5	CYTSB	17	20150580	Missense_Mutation	SNP	T	TCGA-BP-4964-01A-01D-1462-08	16144890	20150580	61044630	79	21121											
UTP6	55813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30213014	30213014	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr17:30213014C>G	ENST00000261708.4	-	9	825	c.688G>C	c.(688-690)Gta>Cta	p.V230L	CTC-542B22.2_ENST00000583236.1_lincRNA|UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	230					rRNA processing (GO:0006364)	nucleolus (GO:0005730)		p.V230L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				ATTATGCTTACAGAATTTTTG	0.313																																																1	Substitution - Missense(1)	kidney(1)											84	87	86					17																	30213014		2202	4300	6502	SO:0001583	missense	55813			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated antigen 66"		"chromosome 17 open reading frame 40"	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.688G>C	17.37:g.30213014C>G	ENSP00000261708:p.Val230Leu		Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063800	0.36373	.	.	ENSG00000108651	ENST00000261708	T	0.29397	1.57	5.74	-2.5	0.06384	.	0.682462	0.15372	N	0.265766	T	0.20210	0.0486	L	0.45051	1.395	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.16748	-1.0392	10	0.30078	T	0.28	-1.846	7.2168	0.25965	0.0:0.436:0.1109:0.4532	.	230;230;230	B4DSL9;B3KQ21;Q9NYH9	.;.;UTP6_HUMAN	L	230	ENSP00000261708:V230L	ENSP00000261708:V230L	V	-	1	0	UTP6	27237127	0.000000	0.05858	0.051000	0.19133	0.995000	0.86356	-0.824000	0.04438	-0.700000	0.05070	0.551000	0.68910	GTA		0.313	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		G	30213014	C	G	30213014	3	3	380	1	0	0	0	0	1	0	0	0	17107	478	17	4	1149	4	UTP6	17	30213014	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	10062434	30213014	50982196	80	21122											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9066807	9066807	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr19:9066807A>T	ENST00000397910.4	-	3	20842	c.20639T>A	c.(20638-20640)aTg>aAg	p.M6880K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6882	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.M6880K(2)|p.M2513K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGATGCATGGCTTCTAT	0.488																																																3	Substitution - Missense(3)	kidney(3)											219	206	211					19																	9066807		2116	4241	6357	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20639T>A	19.37:g.9066807A>T	ENSP00000381008:p.Met6880Lys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.096	-0.185752	0.06340	.	.	ENSG00000181143	ENST00000397910	T	0.24723	1.84	1.55	0.507	0.16967	.	.	.	.	.	T	0.09905	0.0243	N	0.08118	0	.	.	.	B	0.30361	0.277	B	0.15484	0.013	T	0.19031	-1.0318	8	0.87932	D	0	.	3.1062	0.06342	0.7451:0.0:0.2549:0.0	.	6880	B5ME49	.	K	6880	ENSP00000381008:M6880K	ENSP00000381008:M6880K	M	-	2	0	MUC16	8927807	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.281000	0.02802	0.102000	0.17638	0.334000	0.21626	ATG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9066807	A	T	9066807	3	4	380	1	0	0	0	0	1	0	0	0	9975	217	8	5	23212	5	MUC16	19	9066807	Missense_Mutation	SNP	A	TCGA-BP-4964-01A-01D-1462-08		9066807	50062176	81	21123											
SMARCA4	6597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11144146	11144146	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr19:11144146C>T	ENST00000429416.3	+	27	4008	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1243	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1243W(3)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGCCATGAGCGGCGCGCCTT	0.637			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	4	Substitution - Missense(3)|Unknown(1)	kidney(2)|lung(1)|central_nervous_system(1)											86	86	86					19																	11144146		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3727C>T	19.37:g.11144146C>T	ENSP00000395654:p.Arg1243Trp		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698723|3.698723	0.68501|0.68501	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000538456|ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T|D;D;D;D;D;D;D	0.76060|0.95103	-0.99|-2.35;-2.34;-2.35;-3.61;-3.61;-3.61;-3.61	4.74|4.74	-4.88|-4.88	0.03113|0.03113	.|Helicase, C-terminal (1);	.|0.066410	.|0.64402	.|D	.|0.000011	D|D	0.96876|0.96876	0.8980|0.8980	M|M	0.89287|0.89287	3.02|3.02	0.47994|0.47994	D|D	0.999562|0.999562	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.979;0.995;0.991;0.988	D|D	0.95985|0.95985	0.8981|0.8981	6|10	.|0.87932	.|D	.|0	-32.479|-32.479	16.3987|16.3987	0.83632|0.83632	0.6595:0.3405:0.0:0.0|0.6595:0.3405:0.0:0.0	.|.	.|1243;1243;1243;1243;1243;463;1243	.|B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.|.;.;.;.;.;.;SMCA4_HUMAN	V|W	12|1243;1243;1307;1243;1243;1243;1243;1243	ENSP00000443848:A12V|ENSP00000395654:R1243W;ENSP00000350720:R1243W;ENSP00000343896:R1243W;ENSP00000445036:R1243W;ENSP00000392837:R1243W;ENSP00000397783:R1243W;ENSP00000414727:R1243W	.|ENSP00000343896:R1243W	A|R	+|+	2|1	0|2	SMARCA4|SMARCA4	11005146|11005146	0.951000|0.951000	0.32395|0.32395	0.989000|0.989000	0.46669|0.46669	0.990000|0.990000	0.78478|0.78478	0.134000|0.134000	0.15932|0.15932	-0.414000|-0.414000	0.07495|0.07495	0.558000|0.558000	0.71614|0.71614	GCG|CGG		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11144146	C	T	11144146	3	4	380	1	0	0	0	0	1	0	0	0	14776	759	27	1	3825	1	SMARCA4	19	11144146	Missense_Mutation	SNP	C	TCGA-BP-4964-01A-01D-1462-08	2077339	11144146	47984837	82	21124											
ZNF878	729747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12155240	12155240	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr19:12155240A>T	ENST00000547628.1	-	4	1113	c.976T>A	c.(976-978)Ttt>Att	p.F326I	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.F373I|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.F326I(2)		cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGATAGCGAAAGGAAGTGGAA	0.388																																																2	Substitution - Missense(2)	kidney(2)											78	85	83					19																	12155240		2171	4283	6454	SO:0001583	missense	729747				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.976T>A	19.37:g.12155240A>T	ENSP00000447931:p.Phe326Ile			Missense_Mutation	SNP	ENST00000547628.1	37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336287	0.41398	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.18960	2.18	1.3	-2.08	0.07254	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	N	0.17312	0.475	0.09310	N	1	D	0.55605	0.972	P	0.58721	0.844	T	0.16305	-1.0407	9	0.72032	D	0.01	.	3.9897	0.09532	0.1921:0.0:0.5867:0.2212	.	326	C9JN71	ZN878_HUMAN	I	326;373	ENSP00000447931:F326I	ENSP00000447931:F326I	F	-	1	0	AC022415.4;ZNF878	12016240	0.000000	0.05858	0.001000	0.08648	0.343000	0.28985	-0.120000	0.10660	-0.168000	0.10853	0.260000	0.18958	TTT		0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		T	12155240	A	T	12155240	3	4	380	1	0	0	0	0	1	0	0	0	18201	72	3	5	623	5	ZNF878	19	12155240	Missense_Mutation	SNP	A	TCGA-BP-4964-01A-01D-1462-08	1011094	12155240	46973743	83	21125											
ZNF574	64763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42582777	42582777	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr19:42582777G>C	ENST00000600245.1	+	2	674	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	ZNF574_ENST00000359044.4_Missense_Mutation_p.E7Q|ZNF574_ENST00000222339.7_Missense_Mutation_p.E97Q|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E7Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGAATCAGAGGAGACAGTCCT	0.547																																																1	Substitution - Missense(1)	kidney(1)											124	120	121					19																	42582777		2203	4300	6503	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.19G>C	19.37:g.42582777G>C	ENSP00000469029:p.Glu7Gln		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395960	0.62177	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.06449	3.3;3.3	3.82	3.82	0.43975	.	0.387498	0.22093	U	0.064726	T	0.11922	0.0290	L	0.36672	1.1	0.37471	D	0.915618	D;D	0.64830	0.971;0.994	P;D	0.65773	0.746;0.938	T	0.03306	-1.1050	10	0.02654	T	1	-10.6921	14.6304	0.68653	0.0:0.0:1.0:0.0	.	7;96	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	Q	97;7	ENSP00000222339:E97Q;ENSP00000351939:E7Q	ENSP00000222339:E97Q	E	+	1	0	ZNF574	47274617	0.129000	0.22400	0.997000	0.53966	0.764000	0.43329	2.390000	0.44416	1.981000	0.57761	0.467000	0.42956	GAG		0.547	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		C	42582777	G	C	42582777	3	2	380	1	0	0	0	0	1	0	0	0	18011	1175	41	4	21	4	ZNF574	19	42582777	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	30427537	42582777	16546206	84	21126											
SEMG1	6406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	43837138	43837138	+	Silent	SNP	T	T	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr20:43837138T>C	ENST00000372781.3	+	2	1257	c.1200T>C	c.(1198-1200)ggT>ggC	p.G400G	SEMG1_ENST00000244069.6_Silent_p.G340G	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	400	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.G400G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATGGCATGGTGAAAATGCAA	0.438																																																1	Substitution - coding silent(1)	kidney(1)											73	66	69					20																	43837138		2203	4300	6503	SO:0001819	synonymous_variant	6406				CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1200T>C	20.37:g.43837138T>C			Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	CCDS13345.1																																																																																				0.438	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		C	43837138	T	C	43837138	2	2	380	1	0	0	0	0	0	0	0	1	14050	1683	59	3		3	SEMG1	20	43837138	Silent	SNP	T	TCGA-BP-4964-01A-01D-1462-08		43837138	19188382	85	21127											
KRTAP10-5	386680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	46000020	46000020	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr21:46000020A>G	ENST00000400372.1	-	1	461	c.436T>C	c.(436-438)Tct>Cct	p.S146P	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	146	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S146P(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GAATCCTCAGAACAGGTGGGC	0.602																																																1	Substitution - Missense(1)	kidney(1)											153	155	154					21																	46000020		2203	4300	6503	SO:0001583	missense	386680			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.436T>C	21.37:g.46000020A>G	ENSP00000383223:p.Ser146Pro		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	a	1.404	-0.577305	0.03854	.	.	ENSG00000241123	ENST00000400372	T	0.01359	4.98	3.33	0.886	0.19194	.	.	.	.	.	T	0.03178	0.0093	M	0.89214	3.015	0.09310	N	1	B	0.18461	0.028	B	0.16289	0.015	T	0.25847	-1.0120	9	0.72032	D	0.01	.	5.7562	0.18174	0.7416:0.0:0.2584:0.0	.	146	P60370	KR105_HUMAN	P	146	ENSP00000383223:S146P	ENSP00000383223:S146P	S	-	1	0	KRTAP10-5	44824448	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.532000	0.02217	0.303000	0.22785	0.374000	0.22700	TCT		0.602	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			G	46000020	A	G	46000020	3	3	380	1	0	0	0	0	1	0	0	0	8514	246	9	3	383	3	KRTAP10-5	21	46000020	Missense_Mutation	SNP	A	TCGA-BP-4964-01A-01D-1462-08		46000020	2129875	86	21128											
PCNT	5116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47841950	47841950	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr21:47841950G>C	ENST00000359568.5	+	32	7198	c.7091G>C	c.(7090-7092)gGt>gCt	p.G2364A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2364					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.G2364A(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAAACTGCTGGTCCTGTGACC	0.597																																																1	Substitution - Missense(1)	kidney(1)											73	77	75					21																	47841950		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7091G>C	21.37:g.47841950G>C	ENSP00000352572:p.Gly2364Ala		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	6.425	0.446523	0.12223	.	.	ENSG00000160299	ENST00000359568	T	0.01430	4.9	4.19	1.26	0.21427	.	.	.	.	.	T	0.01092	0.0036	L	0.34521	1.04	0.09310	N	1	B;P	0.35844	0.426;0.524	B;B	0.35278	0.199;0.095	T	0.42832	-0.9428	9	0.10902	T	0.67	.	2.6683	0.05059	0.1103:0.183:0.5183:0.1884	.	2246;2364	O95613-2;O95613	.;PCNT_HUMAN	A	2364	ENSP00000352572:G2364A	ENSP00000352572:G2364A	G	+	2	0	PCNT	46666378	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.668000	0.25127	0.114000	0.18032	0.655000	0.94253	GGT		0.597	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		C	47841950	G	C	47841950	3	2	380	1	0	0	0	0	1	0	0	0	11592	1261	44	4	7217	4	PCNT	21	47841950	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	1841930	47841950	287945	87	21129											
RIMBP3	85376	hgsc.bcm.edu	37	22	20460113	20460115	+	In_Frame_Del	DEL	CCG	CCG	-	rs201820173		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	CCG	CCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr22:20460113_20460115delCCG	ENST00000426804.1	-	1	1671_1673	c.1187_1189delCGG	c.(1186-1191)gcggag>gag	p.A396del		NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	396				A -> E (in Ref. 2; BAB33336). {ECO:0000305}.						breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGCTTGTTCTCCGCTTGCAGGGT	0.675																																																0																																										SO:0001651	inframe_deletion	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.1187_1189delCGG	22.37:g.20460113_20460115delCCG	ENSP00000391564:p.Ala396del		Q8IYP7|Q9BY94|Q9UFQ5	In_Frame_Del	DEL	ENST00000426804.1	37	CCDS46665.1																																																																																				0.675	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		-	20460115	CCG	-	20460113	7	5	380	1	0	1	0	1	0	0	0	0	13370	864	30	0	3734	0	RIMBP3	22	20460113	In_Frame_Del	DEL	CCG	TCGA-BP-4964-01A-01D-1462-08		20460113	30844453	88	21130											
SEC14L2	23541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30805428	30805428	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr22:30805428T>A	ENST00000312932.9	+	7	793	c.533T>A	c.(532-534)tTt>tAt	p.F178Y	SEC14L2_ENST00000405717.3_Missense_Mutation_p.F178Y|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.F12Y|SEC14L2_ENST00000403484.1_Missense_Mutation_p.F104Y|SEC14L2_ENST00000402592.3_Missense_Mutation_p.F95Y	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	178	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.F178Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CTCTGCATGTTTGAGGAAAAT	0.448																																																1	Substitution - Missense(1)	kidney(1)											170	164	166					22																	30805428		2203	4300	6503	SO:0001583	missense	23541			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.533T>A	22.37:g.30805428T>A	ENSP00000316203:p.Phe178Tyr		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	ENST00000312932.9	37	CCDS13876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.97|13.97	2.394775|2.394775	0.42512|0.42512	.|.	.|.	ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000249590|ENSG00000249590	ENST00000312932;ENST00000428195;ENST00000403484;ENST00000405717;ENST00000402592;ENST00000439838|ENST00000439023	T;T;T;T;T;T|.	0.77750|.	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Cellular retinaldehyde-binding/triple function, C-terminal (5);|.	0.055790|.	0.85682|.	D|.	0.000000|.	T|T	0.38558|0.38558	0.1045|0.1045	N|N	0.10733|0.10733	0.035|0.035	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B|.	0.15141|.	0.012;0.002;0.001;0.008;0.0;0.001;0.002|.	B;B;B;B;B;B;B|.	0.22601|.	0.023;0.023;0.04;0.04;0.027;0.012;0.023|.	T|T	0.30592|0.30592	-0.9973|-0.9973	10|5	0.06757|.	T|.	0.87|.	-12.0637|-12.0637	14.6281|14.6281	0.68638|0.68638	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	95;124;124;178;104;178;178|.	F5H3U4;C9JZI9;B7Z3Z8;B2RAW8;B3KRD8;O76054;O76054-4|.	.;.;.;.;.;S14L2_HUMAN;.|.	Y|M	178;124;104;178;95;12|6	ENSP00000316203:F178Y;ENSP00000387781:F124Y;ENSP00000383993:F104Y;ENSP00000385186:F178Y;ENSP00000383882:F95Y;ENSP00000415178:F12Y|.	ENSP00000415178:F12Y|.	F|L	+|+	2|1	0|2	RP4-539M6.19;SEC14L2|RP4-539M6.19	29135428|29135428	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.465000|7.465000	0.80898|0.80898	2.131000|2.131000	0.65755|0.65755	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.448	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		A	30805428	T	A	30805428	3	1	380	1	0	0	0	0	1	0	0	0	13988	1841	64	5	559	5	SEC14L2	22	30805428	Missense_Mutation	SNP	T	TCGA-BP-4964-01A-01D-1462-08	10345315	30805428	20499138	89	21131											
DCAF8L1	139425	broad.mit.edu;hgsc.bcm.edu	37	X	27998267	27998267	+	Silent	SNP	G	G	A	rs371674204		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chrX:27998267G>A	ENST00000441525.1	-	1	1299	c.1185C>T	c.(1183-1185)tgC>tgT	p.C395C		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	395								p.C395C(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGTACACAACGCAGGTGATGT	0.418																																																1	Substitution - coding silent(1)	kidney(1)						G		0,3833		0,0,1631,571	98	89	92		1185	-0.7	0	X		92	1,6727		0,1,2427,1872	no	coding-synonymous	DCAF8L1	NM_001017930.1		0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095		395/601	27998267	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1185C>T	X.37:g.27998267G>A			B3KXX1	Silent	SNP	ENST00000441525.1	37	CCDS35222.1																																																																																				0.418	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		A	27998267	G	A	27998267	2	1	380	1	0	0	0	0	0	0	0	1	4279	1079	38	1		1	DCAF8L1	23	27998267	Silent	SNP	G	TCGA-BP-4964-01A-01D-1462-08		27998267	127272293	90	21132											
MUM1L1	139221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	105450813	105450813	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chrX:105450813G>T	ENST00000357175.2	+	4	2037	c.1388G>T	c.(1387-1389)aGt>aTt	p.S463I	MUM1L1_ENST00000337685.2_Missense_Mutation_p.S463I|MUM1L1_ENST00000372552.1_Missense_Mutation_p.S463I	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	463						extracellular vesicular exosome (GO:0070062)		p.S463I(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAGGATTATAGTGAGAGTATT	0.363																																																2	Substitution - Missense(2)	kidney(2)											87	78	80					X																	105450813		1846	4080	5926	SO:0001583	missense	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1388G>T	X.37:g.105450813G>T	ENSP00000349699:p.Ser463Ile		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	6.442	0.449627	0.12223	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.69175	-0.38;-0.38;-0.38	4.31	-1.92	0.07618	.	0.543053	0.17693	N	0.165211	T	0.54046	0.1834	L	0.43152	1.355	0.09310	N	1	P	0.39157	0.662	B	0.42422	0.387	T	0.48768	-0.9006	10	0.44086	T	0.13	-15.5289	5.1773	0.15141	0.4988:0.153:0.3483:0.0	.	463	Q5H9M0	MUML1_HUMAN	I	463	ENSP00000349699:S463I;ENSP00000338641:S463I;ENSP00000361632:S463I	ENSP00000338641:S463I	S	+	2	0	MUM1L1	105337469	0.000000	0.05858	0.006000	0.13384	0.464000	0.32679	0.314000	0.19432	-0.631000	0.05560	0.529000	0.55759	AGT		0.363	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		T	105450813	G	T	105450813	3	4	380	1	0	0	0	0	1	0	0	0	9988	1029	36	4	1390	4	MUM1L1	23	105450813	Missense_Mutation	SNP	G	TCGA-BP-4964-01A-01D-1462-08	77452546	105450813	49819747	91	21133											
DKC1	1736	hgsc.bcm.edu	37	X	154005088	154005089	+	In_Frame_Ins	INS	-	-	AAG			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chrX:154005088_154005089insAAG	ENST00000369550.5	+	15	1701_1702	c.1491_1492insAAG	c.(1492-1494)aag>AAGaag	p.498_498K>KK	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	498	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGATACCACCaagaagaagaa	0.411									Congenital Dyskeratosis					34	0.00900662	0.0008	0.0072	3775	,	,		16089	0.0		0.004	False		,,,				2504	0.0245															0																																										SO:0001652	inframe_insertion	1736	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1510_1512dupAAG	X.37:g.154005095_154005097dupAAG	ENSP00000358563:p.Lys505dup		F5BSB3|O43845|Q96G67|Q9Y505	In_Frame_Ins	INS	ENST00000369550.5	37	CCDS14761.1																																																																																				0.411	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		AAG	154005089	-	AAG	154005088	7	5	380	1	0	1	1	0	0	0	0	0	4544	581	21	0	1549	0	DKC1	23	154005088	In_Frame_Ins	INS	-	TCGA-BP-4964-01A-01D-1462-08	48554275	154005088	1265472	92	21134											
TIE1	7075	broad.mit.edu	37	1	43782949	43782949	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:43782949G>C	ENST00000372476.3	+	15	2568	c.2489G>C	c.(2488-2490)aGc>aCc	p.S830T	TIE1_ENST00000433781.2_Missense_Mutation_p.S475T|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	830					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGCCCCTGAGCTACCCAGTG	0.602																																																0													76	73	74					1																	43782949		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2489G>C	1.37:g.43782949G>C	ENSP00000361554:p.Ser830Thr		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	1.458	-0.563146	0.03939	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.75938	-0.94;-0.98	5.1	0.262	0.15597	Protein kinase-like domain (1);	0.314188	0.22777	N	0.055766	T	0.55465	0.1922	L	0.31926	0.97	0.39965	D	0.974719	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.004	T	0.31833	-0.9929	10	0.14656	T	0.56	.	6.7967	0.23729	0.2548:0.1187:0.6265:0.0	.	785;475;830	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	T	830;233;113;475	ENSP00000361554:S830T;ENSP00000411728:S475T	ENSP00000361553:S233T	S	+	2	0	TIE1	43555536	0.916000	0.31088	0.929000	0.37066	0.990000	0.78478	1.237000	0.32695	-0.244000	0.09639	-0.145000	0.13849	AGC		0.602	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		C	43782949	G	C	43782949	3	2	381	1	0	0	0	0	1	0	0	0	15898	971	34	4	2547	4	TIE1	1	43782949	Missense_Mutation	SNP	G	TCGA-BP-4965-01A-01D-1462-08		43782949	205467672	1	21135											
HFM1	164045	broad.mit.edu	37	1	91784679	91784679	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:91784679A>C	ENST00000370425.3	-	25	2866	c.2768T>G	c.(2767-2769)cTt>cGt	p.L923R	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.L155R|HFM1_ENST00000370424.3_Missense_Mutation_p.L602R	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	923	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTTTCCCAAAGTTTACACCT	0.343																																																0													71	73	73					1																	91784679		2203	4300	6503	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2768T>G	1.37:g.91784679A>C	ENSP00000359454:p.Leu923Arg		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989305	0.74589	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.63913	-0.07;-0.07;-0.07	5.14	5.14	0.70334	Sec63 domain (2);	0.000000	0.56097	U	0.000028	T	0.74038	0.3664	M	0.75264	2.295	0.40990	D	0.984843	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.78954	-0.2000	10	0.87932	D	0	.	15.2498	0.73536	1.0:0.0:0.0:0.0	.	602;923	A6NGI5;A2PYH4	.;HFM1_HUMAN	R	923;155;602;607	ENSP00000359454:L923R;ENSP00000294696:L155R;ENSP00000359453:L602R	ENSP00000294696:L155R	L	-	2	0	HFM1	91557267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.065000	0.61736	0.528000	0.53228	CTT		0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		C	91784679	A	C	91784679	3	2	381	1	0	0	0	0	1	0	0	0	7085	72	3	5	1599	5	HFM1	1	91784679	Missense_Mutation	SNP	A	TCGA-BP-4965-01A-01D-1462-08	48001730	91784679	157465942	2	21136											
COL11A1	1301	broad.mit.edu	37	1	103474038	103474039	+	Frame_Shift_Ins	INS	-	-	T	rs149894788		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:103474038_103474039insT	ENST00000370096.3	-	15	1975_1976	c.1663_1664insA	c.(1663-1665)agtfs	p.S555fs	COL11A1_ENST00000512756.1_Frame_Shift_Ins_p.S439fs|COL11A1_ENST00000358392.2_Frame_Shift_Ins_p.S567fs|COL11A1_ENST00000353414.4_Frame_Shift_Ins_p.S516fs|COL11A1_ENST00000461720.1_5'UTR	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	555	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGATCACCACTCTCACCTTTG	0.376																																																0																																										SO:0001589	frameshift_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1664dupA	1.37:g.103474039_103474039dupT	ENSP00000359114:p.Ser555fs		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Ins	INS	ENST00000370096.3	37	CCDS778.1																																																																																				0.376	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		T	103474039	-	T	103474038	7	5	381	1	0	1	1	0	0	0	0	0	3669	565	20	0	3968	0	COL11A1	1	103474038	Frame_Shift_Ins	INS	-	TCGA-BP-4965-01A-01D-1462-08	11689359	103474038	145776583	3	21137											
CACYBP	27101	broad.mit.edu	37	1	174973869	174973869	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:174973869A>T	ENST00000367679.2	+	2	583	c.135A>T	c.(133-135)caA>caT	p.Q45H	CACYBP_ENST00000405362.1_Missense_Mutation_p.Q2H|CACYBP_ENST00000367681.2_Missense_Mutation_p.Q2H|CACYBP_ENST00000406752.1_Missense_Mutation_p.Q45H	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	45	Interaction with SIAH1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						ACAAGATGCAACAGAAATCAC	0.403																																																0													97	92	94					1																	174973869		2203	4300	6503	SO:0001583	missense	27101			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.135A>T	1.37:g.174973869A>T	ENSP00000356652:p.Gln45His		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	CCDS1315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.058537|4.058537	0.76074|0.76074	.|.	.|.	ENSG00000116161|ENSG00000116161	ENST00000450101|ENST00000367681;ENST00000426793;ENST00000367679;ENST00000406752;ENST00000405362	.|.	.|.	.|.	5.96|5.96	0.257|0.257	0.15574|0.15574	.|Siah interacting protein, N-terminal (1);	.|0.151725	.|0.64402	.|D	.|0.000011	T|T	0.55321|0.55321	0.1913|0.1913	L|L	0.46157|0.46157	1.445|1.445	0.52099|0.52099	D|D	0.999942|0.999942	.|P;B	.|0.48503	.|0.911;0.044	.|P;B	.|0.49752	.|0.621;0.067	T|T	0.52109|0.52109	-0.8619|-0.8619	6|9	0.56958|0.44086	D|T	0.05|0.13	-0.6664|-0.6664	11.6959|11.6959	0.51542|0.51542	0.3554:0.0:0.6446:0.0|0.3554:0.0:0.6446:0.0	.|.	.|45;45	.|B4DFD3;Q9HB71	.|.;CYBP_HUMAN	I|H	19|2;45;45;45;2	.|.	ENSP00000391343:N19I|ENSP00000356652:Q45H	N|Q	+|+	2|3	0|2	CACYBP|CACYBP	173240492|173240492	0.176000|0.176000	0.23096|0.23096	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	-0.460000|-0.460000	0.06720|0.06720	-0.220000|-0.220000	0.09988|0.09988	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.403	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		T	174973869	A	T	174973869	3	4	381	1	0	0	0	0	1	0	0	0	2566	40	2	5	141	5	CACYBP	1	174973869	Missense_Mutation	SNP	A	TCGA-BP-4965-01A-01D-1462-08	71499831	174973869	74276752	4	21138											
PNO1	56902	broad.mit.edu	37	2	68400546	68400546	+	Silent	SNP	T	T	C	rs146981426		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:68400546T>C	ENST00000263657.2	+	6	779	c.688T>C	c.(688-690)Ttg>Ctg	p.L230L	RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	230						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						CAACCTAATCTTGGGTAATAG	0.373																																					NSCLC(83;642 1410 13044 32832 40058)											0								T		0,4406		0,0,2203	134	135	135		688	4.6	1	2	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PNO1	NM_020143.2		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		230/253	68400546	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56902			AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"RNA binding protein"		"KH-type RNA binding protein 1", "KH-type RNA-binding protein 1"	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.688T>C	2.37:g.68400546T>C			A8K6Q0|Q53G13|Q8WVB8	Silent	SNP	ENST00000263657.2	37	CCDS1885.1																																																																																				0.373	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		C	68400546	T	C	68400546	2	2	381	1	0	0	0	0	0	0	0	1	12163	1606	56	3		3	PNO1	2	68400546	Silent	SNP	T	TCGA-BP-4965-01A-01D-1462-08		68400546	174798827	5	21139											
NAT8	9027	broad.mit.edu	37	2	73868451	73868451	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:73868451A>G	ENST00000272425.3	-	2	454	c.305T>C	c.(304-306)cTg>cCg	p.L102P		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						ACGCTCACTCAGGTAGGATTT	0.537																																																0													122	116	118					2																	73868451		2203	4300	6503	SO:0001583	missense	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.305T>C	2.37:g.73868451A>G	ENSP00000272425:p.Leu102Pro			Missense_Mutation	SNP	ENST00000272425.3	37	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.182608	0.57800	.	.	ENSG00000144035	ENST00000272425	T	0.38887	1.11	3.86	3.86	0.44501	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.264472	0.31566	N	0.007424	T	0.63177	0.2489	M	0.80982	2.52	0.30716	N	0.748778	D	0.89917	1.0	D	0.77557	0.99	T	0.66685	-0.5861	10	0.56958	D	0.05	-13.6029	11.3146	0.49383	1.0:0.0:0.0:0.0	.	102	Q9UHE5	NAT8_HUMAN	P	102	ENSP00000272425:L102P	ENSP00000272425:L102P	L	-	2	0	NAT8	73721959	0.538000	0.26394	0.006000	0.13384	0.139000	0.21198	5.734000	0.68580	1.715000	0.51383	0.524000	0.50904	CTG		0.537	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		G	73868451	A	G	73868451	3	3	381	1	0	0	0	0	1	0	0	0	10181	188	7	3	382	3	NAT8	2	73868451	Missense_Mutation	SNP	A	TCGA-BP-4965-01A-01D-1462-08	5467905	73868451	169330922	6	21140											
DCTN1	1639	broad.mit.edu	37	2	74594532	74594532	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:74594532G>A	ENST00000361874.3	-	19	2517	c.2200C>T	c.(2200-2202)Cac>Tac	p.H734Y	DCTN1_ENST00000409567.3_Missense_Mutation_p.H714Y|DCTN1_ENST00000394003.3_Missense_Mutation_p.H727Y|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Missense_Mutation_p.H697Y|DCTN1_ENST00000407639.2_Missense_Mutation_p.H600Y|DCTN1_ENST00000409438.1_Missense_Mutation_p.H600Y|DCTN1_ENST00000409868.1_Missense_Mutation_p.H717Y	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	734					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCGGCAAGGTGGATGCTGTAC	0.522																																																0													88	79	83					2																	74594532		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2200C>T	2.37:g.74594532G>A	ENSP00000354791:p.His734Tyr		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353364	0.82132	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.96	5.96	0.96718	.	0.000000	0.45361	D	0.000374	D	0.90827	0.7119	M	0.76002	2.32	0.80722	D	1	D;P;D;P;P;D	0.62365	0.957;0.594;0.991;0.616;0.928;0.989	P;P;D;B;P;D	0.74023	0.857;0.504;0.982;0.442;0.671;0.969	D	0.88709	0.3221	10	0.35671	T	0.21	-8.9454	19.1799	0.93619	0.0:0.0:1.0:0.0	.	714;697;734;727;600;600	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	Y	734;727;717;600;600;697;717;714	ENSP00000354791:H734Y;ENSP00000377571:H727Y;ENSP00000384844:H600Y;ENSP00000387270:H600Y;ENSP00000386406:H697Y;ENSP00000387327:H717Y;ENSP00000386843:H714Y	ENSP00000354791:H734Y	H	-	1	0	DCTN1	74448040	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.712000	0.98738	2.833000	0.97629	0.650000	0.86243	CAC		0.522	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		A	74594532	G	A	74594532	3	1	381	1	0	0	0	0	1	0	0	0	4308	1348	47	2	1692	2	DCTN1	2	74594532	Missense_Mutation	SNP	G	TCGA-BP-4965-01A-01D-1462-08	726081	74594532	168604841	7	21141											
XIRP2	129446	broad.mit.edu	37	2	168115152	168115156	+	Frame_Shift_Del	DEL	ATCAT	ATCAT	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:168115152_168115156delATCAT	ENST00000409728.1	+	11	2284_2288	c.2195_2199delATCAT	c.(2194-2199)aatcatfs	p.NH732fs	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Frame_Shift_Del_p.NH477fs|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Frame_Shift_Del_p.NH732fs|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Frame_Shift_Del_p.NH699fs|XIRP2_ENST00000409756.2_Frame_Shift_Del_p.NH699fs	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGCCAGAAAATCATAAAGAAAATT	0.307																																																0																																										SO:0001589	frameshift_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2195_2199delATCAT	2.37:g.168115152_168115156delATCAT	ENSP00000386619:p.Asn732fs		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Del	DEL	ENST00000409728.1	37	CCDS56143.1																																																																																				0.307	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		-	168115156	ATCAT	-	168115152	7	5	381	1	0	1	0	1	0	0	0	0	17435	101	4	0	11513	0	XIRP2	2	168115152	Frame_Shift_Del	DEL	ATCAT	TCGA-BP-4965-01A-01D-1462-08	93520620	168115152	75084221	8	21142											
TTN	7273	broad.mit.edu	37	2	179658188	179658188	+	Silent	SNP	T	T	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:179658188T>C	ENST00000591111.1	-	9	1703	c.1479A>G	c.(1477-1479)tcA>tcG	p.S493S	TTN_ENST00000589042.1_Silent_p.S493S|TTN_ENST00000342992.6_Silent_p.S493S|TTN_ENST00000360870.5_Silent_p.S493S|TTN_ENST00000342175.6_Silent_p.S493S|TTN_ENST00000359218.5_Silent_p.S493S|TTN_ENST00000460472.2_Silent_p.S493S			Q8WZ42	TITIN_HUMAN	titin	0					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)			CTTTGGTTCTTGATTTTAATT	0.403																																																0													363	361	362					2																	179658188		2203	4300	6503	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1479A>G	2.37:g.179658188T>C			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179658188	T	C	179658188	2	2	381	1	0	0	0	0	0	0	0	1	16740	1799	63	3		3	TTN	2	179658188	Silent	SNP	T	TCGA-BP-4965-01A-01D-1462-08	11543036	179658188	63541185	9	21143											
CUL3	8452	broad.mit.edu	37	2	225360644	225360645	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:225360644_225360645insTA	ENST00000264414.4	-	13	2084_2085	c.1746_1747insTA	c.(1744-1749)gtaactfs	p.T583fs	CUL3_ENST00000409096.1_Frame_Shift_Ins_p.T559fs|CUL3_ENST00000409777.1_Frame_Shift_Ins_p.T559fs|CUL3_ENST00000344951.4_Frame_Shift_Ins_p.T517fs	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	583					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTAGAGCCAGTTACTTGTGCAC	0.332																																																0																																										SO:0001589	frameshift_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1745_1746dupTA	2.37:g.225360645_225360646dupTA	ENSP00000264414:p.Thr583fs		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Frame_Shift_Ins	INS	ENST00000264414.4	37	CCDS2462.1																																																																																				0.332	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			TA	225360645	-	TA	225360644	7	5	381	1	0	1	1	0	0	0	0	0	4058	1725	60	0	575	0	CUL3	2	225360644	Frame_Shift_Ins	INS	-	TCGA-BP-4965-01A-01D-1462-08	45702456	225360644	17838729	10	21144											
ANKMY1	51281	broad.mit.edu	37	2	241439472	241439472	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:241439472C>T	ENST00000272972.3	-	14	2656	c.2442G>A	c.(2440-2442)cgG>cgA	p.R814R	ANKMY1_ENST00000406958.1_Silent_p.R575R|ANKMY1_ENST00000403283.1_Silent_p.R716R|ANKMY1_ENST00000401804.1_Silent_p.R903R|ANKMY1_ENST00000391987.1_Silent_p.R814R|ANKMY1_ENST00000373320.4_Silent_p.R584R|ANKMY1_ENST00000361678.4_Silent_p.R590R|ANKMY1_ENST00000373318.2_Silent_p.R593R	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	814							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGAGCCGCTTCCGCGCCAGGA	0.652																																																0													42	38	40					2																	241439472		2203	4300	6503	SO:0001819	synonymous_variant	51281			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2442G>A	2.37:g.241439472C>T			B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646182	0.29246	.	.	ENSG00000144504	ENST00000407275	.	.	.	2.61	2.61	0.31194	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54689	-0.8256	4	.	.	.	-22.9437	8.8958	0.35463	0.0:1.0:0.0:0.0	.	.	.	.	E	17	.	.	G	-	2	0	ANKMY1	241088145	0.990000	0.36364	0.892000	0.35008	0.025000	0.11179	0.250000	0.18235	1.788000	0.52465	0.479000	0.44913	GGA		0.652	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		T	241439472	C	T	241439472	2	4	381	1	0	0	0	0	0	0	0	1	634	842	30	2		2	ANKMY1	2	241439472	Silent	SNP	C	TCGA-BP-4965-01A-01D-1462-08	16078828	241439472	1759901	11	21145											
VHL	7428	broad.mit.edu	37	3	10188245	10188245	+	Missense_Mutation	SNP	G	G	T	rs104893830		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:10188245G>T	ENST00000256474.2	+	2	1228	c.388G>T	c.(388-390)Gtt>Ttt	p.V130F	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	130	Involved in binding to CCT complex.		V -> L (in ECYT2 and VHLD; type I). {ECO:0000269|PubMed:12393546, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V130L(9)|p.V130>F(1)|p.V130F(1)|p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGGGCTTCTGGTTAACCAAAC	0.463		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Substitution - Missense(10)|Deletion - Frameshift(1)|Complex - compound substitution(1)	kidney(12)	GRCh37	CM031394|CM961427	VHL	M	rs104893830						205	189	195					3																	10188245		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.388G>T	3.37:g.10188245G>T	ENSP00000256474:p.Val130Phe		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964999	0.74131	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99857	-7.22	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96551	0.9408	10	0.87932	D	0	-11.5971	16.3181	0.82935	0.0:0.0:1.0:0.0	.	130	P40337	VHL_HUMAN	F	130;48	ENSP00000256474:V130F	ENSP00000256474:V130F	V	+	1	0	VHL	10163245	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	7.274000	0.78538	2.530000	0.85305	0.563000	0.77884	GTT		0.463	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188245	G	T	10188245	3	4	381	1	0	0	0	0	1	0	0	0	17167	1261	44	4	394	4	VHL	3	10188245	Missense_Mutation	SNP	G	TCGA-BP-4965-01A-01D-1462-08		10188245	187834185	12	21146											
VILL	50853	broad.mit.edu	37	3	38038588	38038588	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:38038588C>T	ENST00000283713.6	+	6	737	c.471C>T	c.(469-471)agC>agT	p.S157S	VILL_ENST00000383759.2_Silent_p.S157S|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	157					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTGGAACAGCTTTAATAAGG	0.542											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													129	121	123					3																	38038588		2203	4300	6503	SO:0001819	synonymous_variant	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.471C>T	3.37:g.38038588C>T		875	A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	CCDS2670.2																																																																																				0.542	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		T	38038588	C	T	38038588	2	4	381	1	0	0	0	0	0	0	0	1	17170	796	28	2		2	VILL	3	38038588	Silent	SNP	C	TCGA-BP-4965-01A-01D-1462-08	27850343	38038588	159983842	13	21147											
DOCK3	1795	broad.mit.edu	37	3	51265449	51265449	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:51265449C>T	ENST00000266037.9	+	17	1600	c.1577C>T	c.(1576-1578)gCa>gTa	p.A526V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	526	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTGGCTTTGCATTCTCAACC	0.448																																																0													156	146	149					3																	51265449		2001	4178	6179	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1577C>T	3.37:g.51265449C>T	ENSP00000266037:p.Ala526Val		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	36	5.791366	0.96945	.	.	ENSG00000088538	ENST00000266037	T	0.26660	1.72	5.96	5.96	0.96718	.	0.146426	0.64402	D	0.000009	T	0.51346	0.1669	M	0.81112	2.525	0.80722	D	1	P	0.45768	0.866	P	0.54431	0.752	T	0.51593	-0.8686	10	0.87932	D	0	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	526	Q8IZD9	DOCK3_HUMAN	V	526	ENSP00000266037:A526V	ENSP00000266037:A526V	A	+	2	0	DOCK3	51240489	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	GCA		0.448	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		T	51265449	C	T	51265449	3	4	381	1	0	0	0	0	1	0	0	0	4690	710	25	2	1643	2	DOCK3	3	51265449	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08	13226861	51265449	146756981	14	21148											
PRKCD	5580	broad.mit.edu	37	3	53215262	53215262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:53215262C>T	ENST00000394729.2	+	4	683	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	PRKCD_ENST00000330452.3_Nonsense_Mutation_p.Q119*	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	119					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GATGTCTGTTCAGTATTTCCT	0.622																																																0													63	58	60					3																	53215262		2203	4300	6503	SO:0001587	stop_gained	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.355C>T	3.37:g.53215262C>T	ENSP00000378217:p.Gln119*		B0KZ81|B2R834|Q15144|Q86XJ6	Nonsense_Mutation	SNP	ENST00000394729.2	37	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	c	17.35	3.367726	0.61513	.	.	ENSG00000163932	ENST00000394729;ENST00000330452;ENST00000487897;ENST00000464818	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	18.3981	0.90505	0.0:1.0:0.0:0.0	.	.	.	.	X	119	.	ENSP00000331602:Q119X	Q	+	1	0	PRKCD	53190302	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	3.775000	0.55349	2.648000	0.89879	0.556000	0.70494	CAG		0.622	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			T	53215262	C	T	53215262	4	4	381	1	0	0	0	0	0	1	0	0	12514	827	29	2	365	2	PRKCD	3	53215262	Nonsense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08	1949813	53215262	144807168	15	21149											
COPB2	9276	broad.mit.edu	37	3	139090593	139090593	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:139090593C>T	ENST00000333188.5	-	10	1358	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	COPB2_ENST00000507777.1_Missense_Mutation_p.E364K	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	393					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CATGCAAACTCCTGAGCAGAT	0.458																																																0													176	154	161					3																	139090593		2203	4300	6503	SO:0001583	missense	9276			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1177G>A	3.37:g.139090593C>T	ENSP00000329419:p.Glu393Lys		B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	C	36	5.778577	0.96929	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000512309	T;D;D	0.90004	2.31;-2.6;-2.6	5.68	5.68	0.88126	WD40 repeat-like-containing domain (1);Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.95746	0.8616	M	0.93016	3.37	0.80722	D	1	D	0.56521	0.976	D	0.64877	0.93	D	0.95530	0.8602	10	0.49607	T	0.09	-8.6563	19.7834	0.96426	0.0:1.0:0.0:0.0	.	393	P35606	COPB2_HUMAN	K	393;364;16	ENSP00000329419:E393K;ENSP00000422295:E364K;ENSP00000422917:E16K	ENSP00000329419:E393K	E	-	1	0	COPB2	140573283	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.757000	0.85209	2.682000	0.91365	0.561000	0.74099	GAG		0.458	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		T	139090593	C	T	139090593	3	4	381	1	0	0	0	0	1	0	0	0	3731	864	30	2	1595	2	COPB2	3	139090593	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08	85875331	139090593	58931837	16	21150											
ATR	545	broad.mit.edu	37	3	142177892	142177892	+	Missense_Mutation	SNP	G	G	T	rs150286172		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:142177892G>T	ENST00000350721.4	-	44	7532	c.7411C>A	c.(7411-7413)Ctg>Atg	p.L2471M	ATR_ENST00000383101.3_Missense_Mutation_p.L2407M	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2471	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCAAGCCCCAGAATATAACCA	0.373								Other conserved DNA damage response genes																																								0													82	79	80					3																	142177892		2203	4300	6503	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7411C>A	3.37:g.142177892G>T	ENSP00000343741:p.Leu2471Met		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488579|3.488579	0.64074|0.64074	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	T;T|.	0.81415|.	-1.49;-1.49|.	4.4|4.4	2.47|2.47	0.30058|0.30058	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.78013|0.78013	0.4217|0.4217	M|M	0.91249|0.91249	3.19|3.19	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.72625|.	0.978|.	T|T	0.78396|0.78396	-0.2220|-0.2220	10|5	0.66056|.	D|.	0.02|.	-1.3952|-1.3952	9.8307|9.8307	0.40939|0.40939	0.18:0.0:0.82:0.0|0.18:0.0:0.82:0.0	.|.	2471|.	Q13535|.	ATR_HUMAN|.	M|Y	2471;2407|317	ENSP00000343741:L2471M;ENSP00000372581:L2407M|.	ENSP00000343741:L2471M|.	L|S	-|-	1|2	2|0	ATR|ATR	143660582|143660582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	4.907000|4.907000	0.63300|0.63300	0.347000|0.347000	0.23924|0.23924	-0.378000|-0.378000	0.06908|0.06908	CTG|TCT		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142177892	G	T	142177892	3	4	381	1	0	0	0	0	1	0	0	0	1204	933	33	4	539	4	ATR	3	142177892	Missense_Mutation	SNP	G	TCGA-BP-4965-01A-01D-1462-08	3087299	142177892	55844538	17	21151											
SLC26A1	10861	broad.mit.edu	37	4	982680	982680	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr4:982680C>T	ENST00000361661.2	-	4	2424	c.2047G>A	c.(2047-2049)Gcc>Acc	p.A683T	IDUA_ENST00000247933.4_Intron|IDUA_ENST00000509744.1_Intron|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.A683T|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000513138.1_5'Flank	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	683	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTCTGCACGGCATCGTGCACA	0.682																																																0													23	20	21					4																	982680		2189	4288	6477	SO:0001583	missense	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.2047G>A	4.37:g.982680C>T	ENSP00000354721:p.Ala683Thr		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071749	0.55646	.	.	ENSG00000145217	ENST00000361661;ENST00000398516	T;T	0.81415	-1.49;-1.49	4.13	4.13	0.48395	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91308	0.5072	10	0.87932	D	0	.	13.906	0.63836	0.0:1.0:0.0:0.0	.	683	Q9H2B4	S26A1_HUMAN	T	683	ENSP00000354721:A683T;ENSP00000381528:A683T	ENSP00000354721:A683T	A	-	1	0	SLC26A1	972680	1.000000	0.71417	0.106000	0.21319	0.004000	0.04260	7.257000	0.78362	1.845000	0.53610	0.462000	0.41574	GCC		0.682	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		T	982680	C	T	982680	3	4	381	1	0	0	0	0	1	0	0	0	14520	710	25	2	165	2	SLC26A1	4	982680	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08		982680	190171596	18	21152											
WDFY3	23001	broad.mit.edu	37	4	85724573	85724573	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr4:85724573T>C	ENST00000295888.4	-	16	2884	c.2477A>G	c.(2476-2478)aAt>aGt	p.N826S	WDFY3_ENST00000322366.6_Missense_Mutation_p.N826S|WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000512267.1_5'UTR	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	826					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTCGGCAACATTTTTAGGAGG	0.413																																																0													96	92	93					4																	85724573		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2477A>G	4.37:g.85724573T>C	ENSP00000295888:p.Asn826Ser		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	7.844	0.722630	0.15439	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62498	0.02;0.02	5.74	3.27	0.37495	.	0.192721	0.56097	N	0.000037	T	0.39545	0.1082	N	0.19112	0.55	0.42555	D	0.993126	B	0.09022	0.002	B	0.09377	0.004	T	0.23476	-1.0187	10	0.05525	T	0.97	.	10.0658	0.42303	0.0:0.1365:0.0:0.8635	.	826	Q8IZQ1	WDFY3_HUMAN	S	826	ENSP00000318466:N826S;ENSP00000295888:N826S	ENSP00000295888:N826S	N	-	2	0	WDFY3	85943597	0.998000	0.40836	0.862000	0.33874	0.538000	0.34931	2.179000	0.42528	0.432000	0.26286	0.528000	0.53228	AAT		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		C	85724573	T	C	85724573	3	2	381	1	0	0	0	0	1	0	0	0	17275	1493	52	3	8315	3	WDFY3	4	85724573	Missense_Mutation	SNP	T	TCGA-BP-4965-01A-01D-1462-08	84741893	85724573	105429703	19	21153											
HERC5	51191	broad.mit.edu	37	4	89383504	89383504	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr4:89383504G>A	ENST00000264350.3	+	4	838	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	229					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGGCCACACTGAGAGTATGGA	0.418																																					Esophageal Squamous(39;887 1012 34045 50514)											0													54	53	54					4																	89383504		2203	4300	6503	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.685G>A	4.37:g.89383504G>A	ENSP00000264350:p.Glu229Lys		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.186256	0.01620	.	.	ENSG00000138646	ENST00000264350	D	0.84944	-1.92	4.48	-5.93	0.02254	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	1.409570	0.04604	N	0.399047	T	0.66107	0.2756	N	0.21142	0.635	0.09310	N	1	B	0.25521	0.128	B	0.21360	0.034	T	0.60811	-0.7189	10	0.05436	T	0.98	.	3.5004	0.07670	0.4459:0.0994:0.354:0.1008	.	229	Q9UII4	HERC5_HUMAN	K	229	ENSP00000264350:E229K	ENSP00000264350:E229K	E	+	1	0	HERC5	89602527	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-1.355000	0.02612	-1.209000	0.02631	-0.145000	0.13849	GAG		0.418	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		A	89383504	G	A	89383504	3	1	381	1	0	0	0	0	1	0	0	0	7063	1291	45	2	699	2	HERC5	4	89383504	Missense_Mutation	SNP	G	TCGA-BP-4965-01A-01D-1462-08	3658931	89383504	101770772	20	21154											
PDZD2	23037	broad.mit.edu	37	5	32098517	32098517	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr5:32098517G>A	ENST00000438447.1	+	23	8383	c.7995G>A	c.(7993-7995)atG>atA	p.M2665I	PDZD2_ENST00000282493.3_Missense_Mutation_p.M2665I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2665	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGGGACTATGAACCGAGGGG	0.547																																																0													79	80	80					5																	32098517		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7995G>A	5.37:g.32098517G>A	ENSP00000402033:p.Met2665Ile		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	2.468	-0.322463	0.05350	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.16073	2.37;2.37	5.06	4.12	0.48240	PDZ/DHR/GLGF (4);	0.701703	0.12941	N	0.426583	T	0.03348	0.0097	N	0.00242	-1.785	0.20873	N	0.999832	B	0.14438	0.01	B	0.14023	0.01	T	0.36768	-0.9734	10	0.06494	T	0.89	.	7.4512	0.27240	0.0:0.2308:0.6052:0.164	.	2665	O15018	PDZD2_HUMAN	I	2665;2466;2665	ENSP00000402033:M2665I;ENSP00000282493:M2665I	ENSP00000282493:M2665I	M	+	3	0	PDZD2	32134274	0.994000	0.37717	0.436000	0.26797	0.955000	0.61496	0.458000	0.21892	2.497000	0.84241	0.563000	0.77884	ATG		0.547	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			A	32098517	G	A	32098517	3	1	381	1	0	0	0	0	1	0	0	0	11703	1290	45	2	8081	2	PDZD2	5	32098517	Missense_Mutation	SNP	G	TCGA-BP-4965-01A-01D-1462-08		32098517	148816743	21	21155											
COMMD10	51397	broad.mit.edu	37	5	115423221	115423221	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr5:115423221T>A	ENST00000274458.4	+	2	131	c.69T>A	c.(67-69)aaT>aaA	p.N23K	COMMD10_ENST00000515539.1_Missense_Mutation_p.N9K|CTD-2287O16.5_ENST00000606662.1_RNA	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	23										endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		CACTGATAAATGCAATAGATA	0.353																																																0													128	132	130					5																	115423221		2202	4300	6502	SO:0001583	missense	51397			AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.69T>A	5.37:g.115423221T>A	ENSP00000274458:p.Asn23Lys		D3DT07|Q9P077	Missense_Mutation	SNP	ENST00000274458.4	37	CCDS34215.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.353311	0.61293	.	.	ENSG00000145781	ENST00000274458;ENST00000515539	T;T	0.09445	2.98;2.98	5.63	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.86343	2.81	0.38122	D	0.937894	D	0.89917	1.0	D	0.97110	1.0	T	0.17077	-1.0381	10	0.87932	D	0	-17.5671	7.9001	0.29729	0.0:0.224:0.0:0.776	.	23	Q9Y6G5	COMDA_HUMAN	K	23;9	ENSP00000274458:N23K;ENSP00000427319:N9K	ENSP00000274458:N23K	N	+	3	2	COMMD10	115451120	0.957000	0.32711	0.969000	0.41365	0.645000	0.38454	0.610000	0.24253	0.521000	0.28445	0.533000	0.62120	AAT		0.353	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144		A	115423221	T	A	115423221	3	1	381	1	0	0	0	0	1	0	0	0	3717	1461	51	5	75	5	COMMD10	5	115423221	Missense_Mutation	SNP	T	TCGA-BP-4965-01A-01D-1462-08	83324704	115423221	65492039	22	21156											
HIVEP1	3096	broad.mit.edu	37	6	12164458	12164458	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:12164458G>A	ENST00000379388.2	+	9	8253	c.7921G>A	c.(7921-7923)Gca>Aca	p.A2641T	HIVEP1_ENST00000541134.1_Missense_Mutation_p.A506T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2641					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGCTGCCTCGGCAAATCACGT	0.507																																																0													48	55	53					6																	12164458		2133	4248	6381	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7921G>A	6.37:g.12164458G>A	ENSP00000368698:p.Ala2641Thr		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792292	0.50102	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.32272	2.99;1.46	4.98	4.12	0.48240	.	0.769546	0.10601	N	0.655656	T	0.10852	0.0265	L	0.36672	1.1	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.28427	-1.0044	10	0.30854	T	0.27	-0.0547	11.4569	0.50187	0.1515:0.0:0.8485:0.0	.	2641	P15822	ZEP1_HUMAN	T	2641;506;623	ENSP00000368698:A2641T;ENSP00000445617:A506T	ENSP00000368698:A2641T	A	+	1	0	HIVEP1	12272444	0.000000	0.05858	0.001000	0.08648	0.787000	0.44495	0.703000	0.25646	1.114000	0.41781	0.585000	0.79938	GCA		0.507	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12164458	G	A	12164458	3	1	381	1	0	0	0	0	1	0	0	0	7188	1203	42	2	7951	2	HIVEP1	6	12164458	Missense_Mutation	SNP	G	TCGA-BP-4965-01A-01D-1462-08		12164458	158950609	23	21157											
HIST1H2BI	8346	broad.mit.edu	37	6	26273395	26273395	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:26273395C>T	ENST00000377733.2	+	1	252	c.192C>T	c.(190-192)aaC>aaT	p.N64N	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	64					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						GGATTATGAACTCCTTCGTCA	0.567																																																0													186	176	180					6																	26273395		2203	4300	6503	SO:0001819	synonymous_variant	8346			Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"Histones / Replication-dependent"	4756	protein-coding gene	gene with protein product		602807	"H2B histone family, member K", "histone 1, H2bi"	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.192C>T	6.37:g.26273395C>T			P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000377733.2	37	CCDS4603.1																																																																																				0.567	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		T	26273395	C	T	26273395	2	4	381	1	0	0	0	0	0	0	0	1	7150	564	20	2		2	HIST1H2BI	6	26273395	Silent	SNP	C	TCGA-BP-4965-01A-01D-1462-08	14108937	26273395	144841672	24	21158											
MDC1	9656	broad.mit.edu	37	6	30680150	30680150	+	Silent	SNP	T	T	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:30680150T>C	ENST00000376406.3	-	5	2216	c.1569A>G	c.(1567-1569)acA>acG	p.T523T	MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.T523T|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	523	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCTCCACTTGTGTGTTGATGT	0.502								Other conserved DNA damage response genes																																								0													100	103	102					6																	30680150		1510	2709	4219	SO:0001819	synonymous_variant	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1569A>G	6.37:g.30680150T>C			A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	CCDS34384.1																																																																																				0.502	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		C	30680150	T	C	30680150	2	2	381	1	0	0	0	0	0	0	0	1	9405	1683	59	3		3	MDC1	6	30680150	Silent	SNP	T	TCGA-BP-4965-01A-01D-1462-08	4406755	30680150	140434917	25	21159											
CUL7	9820	broad.mit.edu	37	6	43018715	43018715	+	Silent	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:43018715A>G	ENST00000265348.3	-	4	1309	c.1224T>C	c.(1222-1224)ccT>ccC	p.P408P	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Silent_p.P492P			Q14999	CUL7_HUMAN	cullin 7	408	Interaction with TP53.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTGCACAGGAGGCACACCGT	0.597																																																0													99	92	94					6																	43018715		2203	4300	6503	SO:0001819	synonymous_variant	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1224T>C	6.37:g.43018715A>G			B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	CCDS4881.1																																																																																				0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		G	43018715	A	G	43018715	2	3	381	1	0	0	0	0	0	0	0	1	4062	291	11	3		3	CUL7	6	43018715	Silent	SNP	A	TCGA-BP-4965-01A-01D-1462-08	12338565	43018715	128096352	26	21160											
CUL9	23113	broad.mit.edu	37	6	43156328	43156328	+	Silent	SNP	G	G	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:43156328G>T	ENST00000252050.4	+	8	2139	c.2055G>T	c.(2053-2055)gtG>gtT	p.V685V	CUL9_ENST00000354495.3_Silent_p.V575V|CUL9_ENST00000372647.2_Silent_p.V685V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	685					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGCGGTCGTGGCCACTGTGC	0.592																																																0													64	58	60					6																	43156328		2203	4300	6503	SO:0001819	synonymous_variant	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2055G>T	6.37:g.43156328G>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																				0.592	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		T	43156328	G	T	43156328	2	4	381	1	0	0	0	0	0	0	0	1	4063	1335	47	4		4	CUL9	6	43156328	Silent	SNP	G	TCGA-BP-4965-01A-01D-1462-08	137613	43156328	127958739	27	21161											
ASL	435	broad.mit.edu	37	7	65557847	65557847	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr7:65557847T>A	ENST00000304874.9	+	17	1445	c.1343T>A	c.(1342-1344)gTc>gAc	p.V448D	ASL_ENST00000395331.3_Missense_Mutation_p.V428D|ASL_ENST00000380839.4_Missense_Mutation_p.V422D|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395332.3_Missense_Mutation_p.V448D|ASL_ENST00000464970.1_3'UTR	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	448					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CGCTCCAGCGTCGACTGGCAG	0.677																																																0													42	42	42					7																	65557847		2203	4299	6502	SO:0001583	missense	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1343T>A	7.37:g.65557847T>A	ENSP00000307188:p.Val448Asp		E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	t	17.20	3.328534	0.60743	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78	5.53	5.53	0.82687	L-Aspartase-like (1);	0.059384	0.64402	D	0.000002	D	0.99609	0.9858	H	0.97131	3.945	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.70716	0.966;0.956;0.97	D	0.97713	1.0192	10	0.87932	D	0	.	14.8304	0.70142	0.0:0.0:0.0:1.0	.	422;428;448	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	D	448;422;448;428	ENSP00000307188:V448D;ENSP00000370219:V422D;ENSP00000378741:V448D;ENSP00000378740:V428D	ENSP00000307188:V448D	V	+	2	0	ASL	65195282	1.000000	0.71417	0.101000	0.21167	0.109000	0.19521	6.822000	0.75277	2.092000	0.63282	0.459000	0.35465	GTC		0.677	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		A	65557847	T	A	65557847	3	1	381	1	0	0	0	0	1	0	0	0	1044	1667	58	5	1405	5	ASL	7	65557847	Missense_Mutation	SNP	T	TCGA-BP-4965-01A-01D-1462-08		65557847	93580816	28	21162											
MUC17	140453	broad.mit.edu	37	7	100696355	100696355	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr7:100696355delG	ENST00000306151.4	+	10	13256	c.13192delG	c.(13192-13194)gggfs	p.G4398fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4398					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CGTGGGGGCAGGGGTCGTGCT	0.592																																																0													94	79	84					7																	100696355		2203	4300	6503	SO:0001589	frameshift_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13192delG	7.37:g.100696355delG	ENSP00000302716:p.Gly4398fs		O14761|Q685J2|Q8TDH7	Frame_Shift_Del	DEL	ENST00000306151.4	37	CCDS34711.1																																																																																				0.592	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		-	100696355	G	-	100696355	7	5	381	1	0	1	0	1	0	0	0	0	9976	1000	35	0	13230	0	MUC17	7	100696355	Frame_Shift_Del	DEL	G	TCGA-BP-4965-01A-01D-1462-08	35138508	100696355	58442308	29	21163											
PNPLA8	50640	broad.mit.edu	37	7	108155244	108155244	+	Missense_Mutation	SNP	C	C	A	rs373363815		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr7:108155244C>A	ENST00000422087.1	-	4	1098	c.692G>T	c.(691-693)cGg>cTg	p.R231L	PNPLA8_ENST00000426128.2_Missense_Mutation_p.R231L|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R231L|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R131L|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R231L|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R231L	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	231					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TGATTTGTCCCGGAAATGTTC	0.343																																																0													61	58	59					7																	108155244		2203	4299	6502	SO:0001583	missense	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.692G>T	7.37:g.108155244C>A	ENSP00000410804:p.Arg231Leu		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	4.350	0.064383	0.08388	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D;D	0.97831	-3.36;-4.56;-3.36;-4.56;-4.56;-4.56;-4.56	5.78	1.8	0.24995	.	0.812175	0.11231	N	0.585663	D	0.88847	0.6548	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.80837	-0.1204	10	0.08381	T	0.77	.	2.2093	0.03944	0.2372:0.0721:0.2006:0.49	.	231	Q9NP80	PLPL8_HUMAN	L	231;231;231;231;131;231;131	ENSP00000394988:R231L;ENSP00000257694:R231L;ENSP00000373380:R231L;ENSP00000410804:R231L;ENSP00000387789:R131L;ENSP00000406779:R231L;ENSP00000402274:R131L	ENSP00000257694:R231L	R	-	2	0	PNPLA8	107942480	0.013000	0.17824	0.415000	0.26534	0.492000	0.33523	0.590000	0.23954	0.422000	0.26005	-0.312000	0.09012	CGG		0.343	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		A	108155244	C	A	108155244	3	1	381	1	0	0	0	0	1	0	0	0	12173	652	23	4	1692	4	PNPLA8	7	108155244	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08	7458889	108155244	50983419	30	21164											
PRKDC	5591	broad.mit.edu	37	8	48762023	48762023	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr8:48762023C>A	ENST00000314191.2	-	54	7100	c.7044G>T	c.(7042-7044)ttG>ttT	p.L2348F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L2348F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2349					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GATGTTGCTTCAATTGTTTCG	0.403								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											0													145	134	137					8																	48762023		1871	4116	5987	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7044G>T	8.37:g.48762023C>A	ENSP00000313420:p.Leu2348Phe		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	11.56	1.673681	0.29693	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.73152	-0.72;-0.72	5.12	3.27	0.37495	Armadillo-type fold (1);	0.200994	0.33290	N	0.005063	T	0.81479	0.4831	M	0.80847	2.515	0.34910	D	0.747353	D;D	0.71674	0.997;0.998	D;D	0.65684	0.926;0.937	D	0.86901	0.2054	10	0.72032	D	0.01	.	10.2156	0.43166	0.0:0.7757:0.0:0.2243	.	2348;2349	E7EUY0;P78527	.;PRKDC_HUMAN	F	2348	ENSP00000313420:L2348F;ENSP00000345182:L2348F	ENSP00000313420:L2348F	L	-	3	2	PRKDC	48924576	1.000000	0.71417	0.980000	0.43619	0.032000	0.12392	1.053000	0.30442	1.252000	0.44001	0.655000	0.94253	TTG		0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		A	48762023	C	A	48762023	3	1	381	1	0	0	0	0	1	0	0	0	12526	825	29	4	5475	4	PRKDC	8	48762023	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08		48762023	97601999	31	21165			1	35		2	2	21	C		4.134717e-05
PRKDC	5591	broad.mit.edu	37	8	48762043	48762043	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr8:48762043C>T	ENST00000314191.2	-	54	7080	c.7024G>A	c.(7024-7026)Gaa>Aaa	p.E2342K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2342K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2343					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCAACCAGTTCACACAGAGAC	0.368								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											0													119	108	111					8																	48762043		1865	4117	5982	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7024G>A	8.37:g.48762043C>T	ENSP00000313420:p.Glu2342Lys		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	11.60	1.685885	0.29962	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65549	-0.16;-0.16	5.12	5.12	0.69794	Armadillo-type fold (1);	0.335270	0.31859	N	0.006959	T	0.62208	0.2409	M	0.64997	1.995	0.30851	N	0.734574	P;P	0.41313	0.565;0.745	B;B	0.38562	0.142;0.276	T	0.70096	-0.4966	10	0.52906	T	0.07	.	17.9172	0.88955	0.0:1.0:0.0:0.0	.	2342;2343	E7EUY0;P78527	.;PRKDC_HUMAN	K	2342	ENSP00000313420:E2342K;ENSP00000345182:E2342K	ENSP00000313420:E2342K	E	-	1	0	PRKDC	48924596	1.000000	0.71417	0.677000	0.29947	0.024000	0.10985	4.782000	0.62396	2.539000	0.85634	0.655000	0.94253	GAA		0.368	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		T	48762043	C	T	48762043	3	4	381	1	0	0	0	0	1	0	0	0	12526	835	29	2	5495	2	PRKDC	8	48762043	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08	20	48762043	97601979	32	21166			1	35		2	2	21	C		4.134717e-05
MUSK	4593	broad.mit.edu	37	9	113549999	113549999	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr9:113549999T>A	ENST00000374448.4	+	14	1942	c.1808T>A	c.(1807-1809)tTc>tAc	p.F603Y	MUSK_ENST00000416899.2_Missense_Mutation_p.F595Y|MUSK_ENST00000189978.5_Missense_Mutation_p.F603Y|MUSK_ENST00000374438.1_Missense_Mutation_p.F119Y	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	603	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TATGAACCTTTCACTATGGTG	0.438																																																0													82	74	77					9																	113549999		1879	4103	5982	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1808T>A	9.37:g.113549999T>A	ENSP00000363571:p.Phe603Tyr		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492104	0.44352	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88896	0.81;-2.44	6.08	2.36	0.29203	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.096091	0.64402	N	0.000001	T	0.72692	0.3492	N	0.12443	0.215	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.54662	-0.8260	10	0.16420	T	0.52	.	3.1309	0.06423	0.1549:0.0729:0.1339:0.6382	.	603	O15146	MUSK_HUMAN	Y	609;603;603;517;517;119;601;119	ENSP00000363571:F603Y;ENSP00000363561:F119Y	ENSP00000189978:F609Y	F	+	2	0	MUSK	112589820	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.929000	0.63455	0.144000	0.18951	0.533000	0.62120	TTC		0.438	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	113549999	T	A	113549999	3	1	381	1	0	0	0	0	1	0	0	0	9991	1783	62	5	1894	5	MUSK	9	113549999	Missense_Mutation	SNP	T	TCGA-BP-4965-01A-01D-1462-08		113549999	27663432	33	21167											
RABGAP1	23637	broad.mit.edu	37	9	125746779	125746779	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr9:125746779A>G	ENST00000373647.4	+	3	300	c.166A>G	c.(166-168)Agt>Ggt	p.S56G		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	56					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGGGAATGGAAGTGAACAGCA	0.428																																																0													59	51	54					9																	125746779		2203	4300	6503	SO:0001583	missense	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.166A>G	9.37:g.125746779A>G	ENSP00000362751:p.Ser56Gly		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775031	0.49786	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000402311	T;T	0.64260	-0.09;-0.09	5.51	5.51	0.81932	.	.	.	.	.	T	0.74680	0.3748	L	0.60455	1.87	0.80722	D	1	P;D	0.56035	0.688;0.974	B;D	0.67725	0.237;0.953	T	0.75317	-0.3360	9	0.48119	T	0.1	-7.6681	14.7982	0.69894	1.0:0.0:0.0:0.0	.	56;56	Q9Y3P9;Q9Y3P9-4	RBGP1_HUMAN;.	G	56	ENSP00000362751:S56G;ENSP00000384119:S56G	ENSP00000324973:S56G	S	+	1	0	RABGAP1	124786600	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.191000	0.89716	2.083000	0.62718	0.533000	0.62120	AGT		0.428	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		G	125746779	A	G	125746779	3	3	381	1	0	0	0	0	1	0	0	0	12970	72	3	3	172	3	RABGAP1	9	125746779	Missense_Mutation	SNP	A	TCGA-BP-4965-01A-01D-1462-08	12196780	125746779	15466652	34	21168											
PTEN	5728	broad.mit.edu	37	10	89712006	89712006	+	Silent	SNP	C	C	T	rs370162160		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr10:89712006C>T	ENST00000371953.3	+	6	1981	c.624C>T	c.(622-624)ggC>ggT	p.G208G	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	208	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTTCAGTGGCGGAACTTGCA	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	52	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(4)|Deletion - In frame(1)	prostate(16)|central_nervous_system(13)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)						C		1,4405	2.1+/-5.4	0,1,2202	148	146	147		624	1.4	1	10		147	0,8600		0,0,4300	no	coding-synonymous	PTEN	NM_000314.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		208/404	89712006	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.624C>T	10.37:g.89712006C>T			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89712006	C	T	89712006	2	4	381	1	0	0	0	0	0	0	0	1	12743	755	27	1		1	PTEN	10	89712006	Silent	SNP	C	TCGA-BP-4965-01A-01D-1462-08		89712006	45822741	35	21169											
TH	7054	broad.mit.edu	37	11	2189843	2189843	+	Missense_Mutation	SNP	C	C	T	rs201093528		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr11:2189843C>T	ENST00000381178.1	-	4	476	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	TH_ENST00000333684.5_Missense_Mutation_p.R126Q|TH_ENST00000381175.1_Missense_Mutation_p.R149Q|TH_ENST00000352909.3_Missense_Mutation_p.R122Q	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	153					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCCCCCAGCTCGCGGCCTCTG	0.632																																																0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,4336		0,0,2168	11	15	14		365,458,446	-6.1	0	11		14	3,8573		0,3,4285	yes	missense,missense,missense	TH	NM_000360.3,NM_199292.2,NM_199293.2	43,43,43	0,3,6453	TT,TC,CC		0.035,0.0,0.0232	benign,benign,benign	122/498,153/529,149/525	2189843	3,12909	2168	4288	6456	SO:0001583	missense	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.458G>A	11.37:g.2189843C>T	ENSP00000370571:p.Arg153Gln		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	7.173	0.588032	0.13812	0.0	3.5E-4	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99436	-5.89;-5.89;-5.9;-5.58	3.14	-6.07	0.02158	.	0.746506	0.12041	U	0.505015	D	0.97090	0.9049	L	0.56769	1.78	0.09310	N	1	B;B;B;B;B;B	0.21225	0.002;0.0;0.0;0.005;0.031;0.053	B;B;B;B;B;B	0.12837	0.001;0.0;0.0;0.005;0.004;0.008	D	0.92368	0.5903	10	0.48119	T	0.1	.	0.7261	0.00949	0.2462:0.2791:0.1162:0.3586	.	126;126;122;122;153;149	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	Q	153;149;122;126	ENSP00000370571:R153Q;ENSP00000370567:R149Q;ENSP00000325951:R122Q;ENSP00000328814:R126Q	ENSP00000328814:R126Q	R	-	2	0	TH	2146419	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.197000	0.09518	-0.878000	0.04007	0.313000	0.20887	CGA		0.632	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		T	2189843	C	T	2189843	3	4	381	1	0	0	0	0	1	0	0	0	15843	884	31	1	1172	1	TH	11	2189843	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08		2189843	132816673	36	21170											
TRPM5	29850	broad.mit.edu	37	11	2433463	2433463	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr11:2433463G>T	ENST00000155858.6	-	16	2384	c.2376C>A	c.(2374-2376)gaC>gaA	p.D792E	TRPM5_ENST00000533060.1_Missense_Mutation_p.D792E|TRPM5_ENST00000452833.1_Missense_Mutation_p.D794E|TRPM5_ENST00000528453.1_Missense_Mutation_p.D792E	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGGTGTGTGTCCTCGTCTG	0.582																																					NSCLC(1;49 61 17205 18850 43201)											0													219	184	196					11																	2433463		2202	4299	6501	SO:0001583	missense	29850			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2376C>A	11.37:g.2433463G>T	ENSP00000155858:p.Asp792Glu			Missense_Mutation	SNP	ENST00000155858.6	37	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	9.685	1.150334	0.21371	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	4.54	3.63	0.41609	Ion transport (1);	0.125574	0.53938	D	0.000044	T	0.52108	0.1714	L	0.50333	1.59	0.34812	D	0.737779	B;B;B	0.31125	0.309;0.309;0.045	B;B;B	0.25884	0.064;0.064;0.056	T	0.55573	-0.8120	10	0.02654	T	1	-41.8507	11.8615	0.52469	0.0864:0.0:0.9136:0.0	.	792;794;792	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	E	786;792;794;792;792;792	ENSP00000434383:D786E;ENSP00000155858:D792E;ENSP00000387965:D794E;ENSP00000434121:D792E;ENSP00000436809:D792E	ENSP00000155858:D792E	D	-	3	2	TRPM5	2390039	0.998000	0.40836	0.926000	0.36857	0.481000	0.33189	1.372000	0.34261	1.055000	0.40461	0.591000	0.81541	GAC		0.582	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		T	2433463	G	T	2433463	3	4	381	1	0	0	0	0	1	0	0	0	16594	1368	48	4	1157	4	TRPM5	11	2433463	Missense_Mutation	SNP	G	TCGA-BP-4965-01A-01D-1462-08	243620	2433463	132573053	37	21171											
ATP2A2	488	broad.mit.edu	37	12	110734534	110734534	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr12:110734534A>T	ENST00000539276.2	+	5	564	c.455A>T	c.(454-456)gAa>gTa	p.E152V	ATP2A2_ENST00000395494.2_Missense_Mutation_p.E152V|ATP2A2_ENST00000308664.6_Missense_Mutation_p.E152V|ATP2A2_ENST00000550248.2_3'UTR			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	152					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GATATTGTAGAAATTGCTGGT	0.343																																																0													139	131	133					12																	110734534		2203	4300	6503	SO:0001583	missense	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.455A>T	12.37:g.110734534A>T	ENSP00000440045:p.Glu152Val		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.181704|4.181704	0.78677|0.78677	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276;ENST00000550248|ENST00000548169	D;D;D|.	0.89746|.	-2.56;-2.56;-2.56|.	5.45|5.45	5.45|5.45	0.79879|0.79879	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.044860|.	0.85682|.	D|.	0.000000|.	T|T	0.50956|0.50956	0.1646|0.1646	N|N	0.17674|0.17674	0.51|0.51	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26400|.	0.08;0.069;0.148|.	B;B;B|.	0.34385|.	0.087;0.079;0.181|.	T|T	0.48091|0.48091	-0.9065|-0.9065	9|5	.|.	.|.	.|.	.|.	15.4965|15.4965	0.75658|0.75658	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	152;152;152|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	V|S	152;152;152;27|69	ENSP00000311186:E152V;ENSP00000378872:E152V;ENSP00000440045:E152V|.	.|.	E|R	+|+	2|3	0|2	ATP2A2|ATP2A2	109218917|109218917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.953000|8.953000	0.93041|0.93041	2.062000|2.062000	0.61559|0.61559	0.472000|0.472000	0.43445|0.43445	GAA|AGA		0.343	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		T	110734534	A	T	110734534	3	4	381	1	0	0	0	0	1	0	0	0	1137	246	9	5	473	5	ATP2A2	12	110734534	Missense_Mutation	SNP	A	TCGA-BP-4965-01A-01D-1462-08		110734534	23117361	38	21172											
P2RX7	5027	broad.mit.edu	37	12	121570799	121570799	+	Missense_Mutation	SNP	A	A	G	rs200573297		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr12:121570799A>G	ENST00000546057.1	+	1	169	c.26A>G	c.(25-27)gAt>gGt	p.D9G	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.D9G	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	9					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCTGCAGTGATGTTTTCCAG	0.547																																																0													149	121	130					12																	121570799		2203	4300	6503	SO:0001583	missense	5027			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.26A>G	12.37:g.121570799A>G	ENSP00000442349:p.Asp9Gly		A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973249	0.34848	.	.	ENSG00000089041	ENST00000546057;ENST00000377162	T;T	0.08720	4.36;3.06	4.68	4.68	0.58851	.	0.107085	0.40469	N	0.001081	T	0.09905	0.0243	M	0.67953	2.075	0.80722	D	1	B	0.16166	0.016	B	0.11329	0.006	T	0.08785	-1.0705	10	0.12430	T	0.62	.	10.6771	0.45792	1.0:0.0:0.0:0.0	.	9	Q99572	P2RX7_HUMAN	G	9	ENSP00000442349:D9G;ENSP00000366367:D9G	ENSP00000261826:D9G	D	+	2	0	P2RX7	120055182	0.123000	0.22298	0.094000	0.20943	0.930000	0.56654	2.681000	0.46926	2.082000	0.62665	0.383000	0.25322	GAT		0.547	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		G	121570799	A	G	121570799	3	3	381	1	0	0	0	0	1	0	0	0	11347	333	12	3	28	3	P2RX7	12	121570799	Missense_Mutation	SNP	A	TCGA-BP-4965-01A-01D-1462-08	10836265	121570799	12281096	39	21173											
KNTC1	9735	broad.mit.edu	37	12	123054258	123054258	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr12:123054258A>C	ENST00000333479.7	+	22	1924	c.1747A>C	c.(1747-1749)Atg>Ctg	p.M583L	KNTC1_ENST00000450485.2_Missense_Mutation_p.M546L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	583					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGATGTGAAAATGCTGGAGAG	0.363																																																0													113	107	109					12																	123054258		1865	4101	5966	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1747A>C	12.37:g.123054258A>C	ENSP00000328236:p.Met583Leu		A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.465352	0.26335	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.20738	2.05;2.62	5.62	5.62	0.85841	.	0.136552	0.64402	D	0.000003	T	0.24812	0.0602	M	0.63428	1.95	0.80722	D	1	P;P	0.39782	0.66;0.688	B;B	0.35607	0.206;0.104	T	0.02991	-1.1085	10	0.49607	T	0.09	-22.0713	16.1172	0.81314	1.0:0.0:0.0:0.0	.	546;583	E7ES84;P50748	.;KNTC1_HUMAN	L	546;583	ENSP00000397992:M546L;ENSP00000328236:M583L	ENSP00000328236:M583L	M	+	1	0	KNTC1	121620211	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.869000	0.63028	2.266000	0.75297	0.533000	0.62120	ATG		0.363	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			C	123054258	A	C	123054258	3	2	381	1	0	0	0	0	1	0	0	0	8430	101	4	5	1829	5	KNTC1	12	123054258	Missense_Mutation	SNP	A	TCGA-BP-4965-01A-01D-1462-08	1483459	123054258	10797637	40	21174											
ESR2	2100	broad.mit.edu	37	14	64716381	64716381	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr14:64716381C>T	ENST00000341099.4	-	7	1525	c.1108G>A	c.(1108-1110)Gta>Ata	p.V370I	ESR2_ENST00000542956.1_Missense_Mutation_p.V370I|ESR2_ENST00000358599.5_Missense_Mutation_p.V370I|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Missense_Mutation_p.V370I|ESR2_ENST00000555278.1_Missense_Mutation_p.V370I|ESR2_ENST00000553796.1_Missense_Mutation_p.V370I|ESR2_ENST00000353772.3_Missense_Mutation_p.V370I|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000557772.1_Missense_Mutation_p.V370I|ESR2_ENST00000357782.2_Missense_Mutation_p.V370I	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	370	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATTCCTTCTACGCATTTCCCC	0.363																																																0													111	103	105					14																	64716381		2203	4300	6503	SO:0001583	missense	2100			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1108G>A	14.37:g.64716381C>T	ENSP00000343925:p.Val370Ile		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070936	0.93950	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099	D;D;D;D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.93	5.93	0.95920	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	M	0.77313	2.365	0.80722	D	1	D;B;P;D	0.60575	0.979;0.406;0.742;0.988	D;P;P;D	0.69824	0.949;0.465;0.771;0.966	D	0.97715	1.0193	10	0.66056	D	0.02	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	370;370;370;370	Q92731;Q92731-6;Q92731-5;F1D8N3	ESR2_HUMAN;.;.;.	I	370	ENSP00000452485:V370I;ENSP00000441792:V370I;ENSP00000450699:V370I;ENSP00000335551:V370I;ENSP00000351412:V370I;ENSP00000450488:V370I;ENSP00000452426:V370I;ENSP00000350427:V370I;ENSP00000451582:V370I;ENSP00000343925:V370I	ENSP00000343925:V370I	V	-	1	0	ESR2	63786134	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	7.433000	0.80362	2.805000	0.96524	0.655000	0.94253	GTA		0.363	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			T	64716381	C	T	64716381	3	4	381	1	0	0	0	0	1	0	0	0	5259	536	19	1	582	1	ESR2	14	64716381	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08		64716381	42633159	41	21175											
OIP5	11339	broad.mit.edu	37	15	41624695	41624695	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:41624695C>A	ENST00000220514.3	-	1	124	c.65G>T	c.(64-66)gGt>gTt	p.G22V	NUSAP1_ENST00000560747.1_5'Flank|NUSAP1_ENST00000450592.2_5'Flank|NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000450318.1_5'Flank|NUSAP1_ENST00000260359.6_5'Flank|NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000559596.1_5'Flank	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	22					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTCAGTGCCACCACAAAAGTC	0.652																																																0													80	94	89					15																	41624695		2203	4300	6503	SO:0001583	missense	11339			AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"MIS18 kinetochore protein homolog B (S. pombe)", "cancer/testis antigen 86"	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.65G>T	15.37:g.41624695C>A	ENSP00000220514:p.Gly22Val		Q96BX7	Missense_Mutation	SNP	ENST00000220514.3	37	CCDS10074.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698628	0.30142	.	.	ENSG00000104147	ENST00000220514	.	.	.	5.35	-1.49	0.08718	.	1.404100	0.04584	N	0.395530	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25710	-1.0124	9	0.72032	D	0.01	-1.3137	1.0371	0.01551	0.1386:0.2419:0.2865:0.333	.	22	O43482	MS18B_HUMAN	V	22	.	ENSP00000220514:G22V	G	-	2	0	OIP5	39411987	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.045000	0.12003	-0.053000	0.13289	-1.235000	0.01560	GGT		0.652	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252576.2	NM_007280		A	41624695	C	A	41624695	3	1	381	1	0	0	0	0	1	0	0	0	10850	507	18	4	644	4	OIP5	15	41624695	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08		41624695	60906697	42	21176											
SPG11	80208	broad.mit.edu	37	15	44876035	44876035	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:44876035A>G	ENST00000261866.7	-	30	5859	c.5843T>C	c.(5842-5844)aTt>aCt	p.I1948T	SPG11_ENST00000535302.2_Missense_Mutation_p.I1948T|SPG11_ENST00000427534.2_Missense_Mutation_p.I1948T|SPG11_ENST00000558319.1_Missense_Mutation_p.I1948T|SPG11_ENST00000558253.1_5'Flank	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1948					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCTTAGGGGAATGTCGGGTGC	0.527																																																0													97	92	94					15																	44876035		2198	4298	6496	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5843T>C	15.37:g.44876035A>G	ENSP00000261866:p.Ile1948Thr		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539934	0.27563	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77877	-1.13;-0.88;-0.87	4.57	3.44	0.39384	.	1.524990	0.03466	N	0.212992	T	0.73521	0.3597	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.20261	0.043;0.01;0.007;0.007	B;B;B;B	0.18561	0.021;0.022;0.012;0.012	T	0.51156	-0.8741	10	0.14252	T	0.57	-20.7478	7.1936	0.25839	0.6883:0.0:0.3117:0.0	.	1948;1948;1948;1948	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	T	1948	ENSP00000261866:I1948T;ENSP00000445278:I1948T;ENSP00000396110:I1948T	ENSP00000261866:I1948T	I	-	2	0	SPG11	42663327	0.000000	0.05858	0.004000	0.12327	0.220000	0.24768	-0.226000	0.09139	0.892000	0.36259	0.460000	0.39030	ATT		0.527	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			G	44876035	A	G	44876035	3	3	381	1	0	0	0	0	1	0	0	0	15046	101	4	3	1532	3	SPG11	15	44876035	Missense_Mutation	SNP	A	TCGA-BP-4965-01A-01D-1462-08	3251340	44876035	57655357	43	21177											
BCL2L10	10017	broad.mit.edu	37	15	52402170	52402170	+	Splice_Site	DEL	C	C	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:52402170delC	ENST00000561198.1	-	2	601	c.560delG	c.(559-561)gga>ga	p.G187fs	BCL2L10_ENST00000260442.3_Splice_Site_p.D164fs			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CAAAAGCCATCCTACAGGGGG	0.453																																																0													67	74	72					15																	52402170		2195	4293	6488	SO:0001630	splice_region_variant	10017			AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000561198.1:c.560-1G>-	15.37:g.52402170delC			Q3SX80|Q52LQ9|Q8TCS9	Splice_Site	DEL	ENST00000561198.1	37																																																																																					0.453	BCL2L10-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419386.1		Frame_Shift_Del	-	52402170	C	-	52402170	8	5	381	1	0	1	0	1	0	0	1	0	1368	869	30	0	128	0	BCL2L10	15	52402170	Splice_Site	DEL	C	TCGA-BP-4965-01A-01D-1462-08	7526135	52402170	50129222	44	21178											
CILP	8483	broad.mit.edu	37	15	65491129	65491129	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:65491129C>A	ENST00000261883.4	-	9	1661	c.1495G>T	c.(1495-1497)Gct>Tct	p.A499S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	499					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCATTGTCAGCAGCACTGACA	0.607																																																0													71	61	65					15																	65491129		2202	4299	6501	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1495G>T	15.37:g.65491129C>A	ENSP00000261883:p.Ala499Ser		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469626	0.43839	.	.	ENSG00000138615	ENST00000261883	T	0.46063	0.88	5.95	4.08	0.47627	.	0.097179	0.64402	D	0.000001	T	0.43100	0.1232	M	0.72894	2.215	0.49915	D	0.999834	B	0.31968	0.349	B	0.33846	0.171	T	0.35895	-0.9770	10	0.49607	T	0.09	-11.6394	10.8089	0.46535	0.1308:0.8017:0.0:0.0675	.	499	O75339	CILP1_HUMAN	S	499	ENSP00000261883:A499S	ENSP00000261883:A499S	A	-	1	0	CILP	63278182	0.998000	0.40836	0.268000	0.24571	0.981000	0.71138	3.992000	0.56980	0.856000	0.35383	0.655000	0.94253	GCT		0.607	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		A	65491129	C	A	65491129	3	1	381	1	0	0	0	0	1	0	0	0	3431	710	25	4	2063	4	CILP	15	65491129	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08	13088959	65491129	37040263	45	21179											
TIPIN	54962	broad.mit.edu	37	15	66645153	66645153	+	Splice_Site	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:66645153C>T	ENST00000261881.4	-	2	218	c.133G>A	c.(133-135)Gag>Aag	p.E45K	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	45					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CTATACATACCTTCATCAGGC	0.498																																																0													109	95	100					15																	66645153		2201	4299	6500	SO:0001630	splice_region_variant	54962			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"CSM3 homolog (S. cerevisiae)"	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.133+1G>A	15.37:g.66645153C>T			B2CW64|Q9NWZ6	Splice_Site	SNP	ENST00000261881.4	37	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164811	0.38217	.	.	ENSG00000075131	ENST00000261881	T	0.12774	2.65	4.71	4.71	0.59529	.	0.514105	0.20738	N	0.086588	T	0.16514	0.0397	L	0.56769	1.78	0.80722	D	1	B	0.21381	0.055	B	0.15052	0.012	T	0.03840	-1.0999	9	.	.	.	-4.4165	16.5679	0.84603	0.0:1.0:0.0:0.0	.	45	Q9BVW5	TIPIN_HUMAN	K	45	ENSP00000261881:E45K	.	E	-	1	0	TIPIN	64432207	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	4.689000	0.61723	2.302000	0.77476	0.455000	0.32223	GAG		0.498	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858	Missense_Mutation	T	66645153	C	T	66645153	5	4	381	1	0	0	0	0	0	0	1	0	15930	695	24	2	800	2	TIPIN	15	66645153	Splice_Site	SNP	C	TCGA-BP-4965-01A-01D-1462-08	1154024	66645153	35886239	46	21180											
ACAN	176	broad.mit.edu	37	15	89391157	89391157	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:89391157C>T	ENST00000561243.1	+	8	1620	c.1620C>T	c.(1618-1620)agC>agT	p.S540S	ACAN_ENST00000352105.7_Silent_p.S540S|ACAN_ENST00000558207.1_Silent_p.S540S|ACAN_ENST00000559004.1_Silent_p.S540S|ACAN_ENST00000439576.2_Silent_p.S540S			P16112	PGCA_HUMAN	aggrecan	540	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCATTGTGAGCCCCCGGACCC	0.602																																																0													71	74	73					15																	89391157		1959	4151	6110	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1620C>T	15.37:g.89391157C>T			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																				0.602	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		T	89391157	C	T	89391157	2	4	381	1	0	0	0	0	0	0	0	1	117	738	26	2		2	ACAN	15	89391157	Silent	SNP	C	TCGA-BP-4965-01A-01D-1462-08	22746004	89391157	13140235	47	21181											
PRKCB	5579	broad.mit.edu	37	16	24202477	24202477	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:24202477C>G	ENST00000321728.7	+	16	1964	c.1789C>G	c.(1789-1791)Cat>Gat	p.H597D	PRKCB_ENST00000303531.7_Missense_Mutation_p.H597D	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	597	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TATCAAAGAGCATGCATTTTT	0.453																																																0													118	116	117					16																	24202477		2197	4300	6497	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1789C>G	16.37:g.24202477C>G	ENSP00000318315:p.His597Asp		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884739	0.91814	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.58506	0.33;0.33	5.79	5.79	0.91817	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	M	0.86178	2.8	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.73708	0.968;0.981	T	0.82030	-0.0659	10	0.87932	D	0	.	18.5987	0.91239	0.0:1.0:0.0:0.0	.	597;597	P05771-2;P05771	.;KPCB_HUMAN	D	597	ENSP00000318315:H597D;ENSP00000305355:H597D	ENSP00000305355:H597D	H	+	1	0	PRKCB	24109978	1.000000	0.71417	0.988000	0.46212	0.951000	0.60555	7.487000	0.81328	2.744000	0.94065	0.650000	0.86243	CAT		0.453	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		G	24202477	C	G	24202477	3	3	381	1	0	0	0	0	1	0	0	0	12513	710	25	4	1851	4	PRKCB	16	24202477	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08		24202477	66152276	48	21182											
SRCAP	10847	broad.mit.edu	37	16	30750345	30750345	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:30750345C>G	ENST00000262518.4	+	34	9369	c.8984C>G	c.(8983-8985)aCt>aGt	p.T2995S	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.T2933S|SRCAP_ENST00000344771.4_Missense_Mutation_p.T2837S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2995	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACTGTCACCACTGTCACCATT	0.602																																																0													161	121	134					16																	30750345		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8984C>G	16.37:g.30750345C>G	ENSP00000262518:p.Thr2995Ser		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	c	7.918	0.738043	0.15574	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90788	-2.68;-2.73;-2.72	5.47	3.45	0.39498	.	0.290613	0.24937	N	0.034412	T	0.77837	0.4190	N	0.08118	0	0.21220	N	0.99976	B;B	0.10296	0.003;0.002	B;B	0.15870	0.014;0.006	T	0.59553	-0.7433	10	0.10902	T	0.67	-6.8241	10.8207	0.46604	0.3657:0.6343:0.0:0.0	.	2933;2995	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2995;2933;2837	ENSP00000262518:T2995S;ENSP00000378499:T2933S;ENSP00000343042:T2837S	ENSP00000262518:T2995S	T	+	2	0	SRCAP	30657846	0.900000	0.30661	0.999000	0.59377	0.998000	0.95712	0.545000	0.23268	0.794000	0.33899	0.651000	0.88453	ACT		0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		G	30750345	C	G	30750345	3	3	381	1	0	0	0	0	1	0	0	0	15140	565	20	4	9110	4	SRCAP	16	30750345	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08	6547868	30750345	59604408	49	21183											
CES1	1066	broad.mit.edu	37	16	55855371	55855371	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:55855371C>A	ENST00000361503.4	-	5	729	c.599G>T	c.(598-600)tGg>tTg	p.W200L	CES1_ENST00000360526.3_Missense_Mutation_p.W201L|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000422046.2_Missense_Mutation_p.W200L			P23141	EST1_HUMAN	carboxylesterase 1	200					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GTCCTGGACCCAGCGCAGGGC	0.582																																					NSCLC(162;1801 2756 42904 52896)											0													53	55	54					16																	55855371		2198	4300	6498	SO:0001583	missense	1066			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.599G>T	16.37:g.55855371C>A	ENSP00000355193:p.Trp200Leu		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.162813	0.78226	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	D;D;D	0.84730	-1.89;-1.89;-1.89	4.18	4.18	0.49190	Carboxylesterase, type B (1);	0.000000	0.56097	D	0.000032	D	0.95912	0.8669	H	0.99689	4.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97538	1.0084	10	0.87932	D	0	.	14.0527	0.64747	0.0:1.0:0.0:0.0	.	200;200;201	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	L	201;200;200;65	ENSP00000353720:W201L;ENSP00000355193:W200L;ENSP00000390492:W200L	ENSP00000353720:W201L	W	-	2	0	CES1	54412872	1.000000	0.71417	0.993000	0.49108	0.708000	0.40852	6.987000	0.76206	1.906000	0.55180	0.456000	0.33151	TGG		0.582	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		A	55855371	C	A	55855371	3	1	381	1	0	0	0	0	1	0	0	0	3271	595	21	4	1144	4	CES1	16	55855371	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08	25105026	55855371	34499382	50	21184											
MT1H	4496	broad.mit.edu	37	16	56704457	56704457	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:56704457A>G	ENST00000332374.4	+	2	139	c.68A>G	c.(67-69)aAg>aGg	p.K23R	MT1G_ENST00000444837.2_5'Flank|MT1H_ENST00000569155.1_Missense_Mutation_p.K23R|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000568675.1_5'Flank|MT1G_ENST00000569500.1_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	23	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						AAGTGCAAAAAGTGCAAATGC	0.567																																																0													71	69	69					16																	56704457		2198	4300	6498	SO:0001583	missense	4496			BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"Metallothioneins"	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.68A>G	16.37:g.56704457A>G	ENSP00000330587:p.Lys23Arg		B2RUY6	Missense_Mutation	SNP	ENST00000332374.4	37	CCDS10767.1	.	.	.	.	.	.	.	.	.	.	A	9.747	1.166455	0.21621	.	.	ENSG00000205358	ENST00000332374	T	0.09538	2.97	2.0	0.636	0.17729	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.730351	0.11653	U	0.542628	T	0.07683	0.0193	.	.	.	0.09310	N	0.999997	B	0.14805	0.011	B	0.11329	0.006	T	0.31251	-0.9950	9	0.66056	D	0.02	-1.8467	5.7684	0.18239	0.7304:0.2695:0.0:0.0	.	23	P80294	MT1H_HUMAN	R	23	ENSP00000330587:K23R	ENSP00000330587:K23R	K	+	2	0	MT1H	55261958	0.747000	0.28283	0.989000	0.46669	0.406000	0.30931	1.092000	0.30927	0.925000	0.37094	0.247000	0.18012	AAG		0.567	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	NM_005951		G	56704457	A	G	56704457	3	3	381	1	0	0	0	0	1	0	0	0	9904	72	3	3	74	3	MT1H	16	56704457	Missense_Mutation	SNP	A	TCGA-BP-4965-01A-01D-1462-08	849086	56704457	33650296	51	21185											
EXOC3L	283849	broad.mit.edu	37	16	67219061	67219061	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:67219061C>T	ENST00000314586.6	-	11	1967	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	576					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTTCCGCACGCGCCAGAAGTC	0.677																																																0													34	42	39					16																	67219061		2197	4298	6495	SO:0001583	missense	283849			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1727G>A	16.37:g.67219061C>T	ENSP00000325674:p.Arg576His		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	C	9.653	1.142196	0.21205	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.06849	3.25;3.25	5.6	3.62	0.41486	.	0.285739	0.30869	N	0.008705	T	0.04907	0.0132	N	0.22421	0.69	0.34401	D	0.695326	B;B;B	0.27140	0.14;0.169;0.066	B;B;B	0.17979	0.017;0.02;0.011	T	0.37430	-0.9706	10	0.14252	T	0.57	-7.2002	8.5301	0.33329	0.0:0.8141:0.0:0.1859	.	473;473;576	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	H	576;473;478	ENSP00000325674:R576H;ENSP00000439910:R473H	ENSP00000325008:R478H	R	-	2	0	EXOC3L1	65776562	0.026000	0.19158	0.777000	0.31699	0.744000	0.42396	0.026000	0.13599	0.681000	0.31386	0.563000	0.77884	CGC		0.677	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		T	67219061	C	T	67219061	3	4	381	1	0	0	0	0	1	0	0	0	5306	768	27	1	529	1	EXOC3L	16	67219061	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08	10514604	67219061	23135692	52	21186											
HYDIN	54768	broad.mit.edu	37	16	70866802	70866802	+	Silent	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:70866802A>G	ENST00000393567.2	-	80	13998	c.13848T>C	c.(13846-13848)ccT>ccC	p.P4616P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4616					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTAGACTCAGAGGACTGCCTC	0.562																																																0													17	25	23					16																	70866802		2006	4226	6232	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13848T>C	16.37:g.70866802A>G			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.562	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			G	70866802	A	G	70866802	2	3	381	1	0	0	0	0	0	0	0	1	7469	291	11	3		3	HYDIN	16	70866802	Silent	SNP	A	TCGA-BP-4965-01A-01D-1462-08	3647741	70866802	19487951	53	21187											
MLKL	197259	broad.mit.edu	37	16	74725180	74725180	+	Silent	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:74725180G>A	ENST00000308807.7	-	4	1180	c.717C>T	c.(715-717)agC>agT	p.S239S	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						cttacgcaatgcTGCCAGCCT	0.428																																																0													237	242	241					16																	74725180		2198	4300	6498	SO:0001819	synonymous_variant	197259			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.717C>T	16.37:g.74725180G>A				Silent	SNP	ENST00000308807.7	37	CCDS32487.1																																																																																				0.428	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		A	74725180	G	A	74725180	2	1	381	1	0	0	0	0	0	0	0	1	9621	1310	46	2		2	MLKL	16	74725180	Silent	SNP	G	TCGA-BP-4965-01A-01D-1462-08	3858378	74725180	15629573	54	21188											
ZFPM1	161882	broad.mit.edu	37	16	88599110	88599110	+	Silent	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:88599110G>A	ENST00000319555.3	+	8	1357	c.1035G>A	c.(1033-1035)acG>acA	p.T345T	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	345					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACACGGACACGCTGAGCGGTA	0.692																																					Pancreas(49;850 1106 29641 32847 38344)											0													31	30	30					16																	88599110		2192	4297	6489	SO:0001819	synonymous_variant	161882			AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1035G>A	16.37:g.88599110G>A				Silent	SNP	ENST00000319555.3	37	CCDS32502.1																																																																																				0.692	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			A	88599110	G	A	88599110	2	1	381	1	0	0	0	0	0	0	0	1	17662	1074	38	1		1	ZFPM1	16	88599110	Silent	SNP	G	TCGA-BP-4965-01A-01D-1462-08	13873930	88599110	1755643	55	21189											
DNAH9	1770	broad.mit.edu	37	17	11778481	11778481	+	Silent	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr17:11778481C>A	ENST00000262442.4	+	53	10526	c.10458C>A	c.(10456-10458)gtC>gtA	p.V3486V	RP11-628O18.1_ENST00000579621.1_RNA|DNAH9_ENST00000454412.2_Silent_p.V3486V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3486	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCTCCGGGTCACGCAGATTG	0.458																																																0													75	65	68					17																	11778481		2203	4300	6503	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10458C>A	17.37:g.11778481C>A			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11778481	C	A	11778481	2	1	381	1	0	0	0	0	0	0	0	1	4610	813	29	4		4	DNAH9	17	11778481	Silent	SNP	C	TCGA-BP-4965-01A-01D-1462-08		11778481	69416729	56	21190											
SLC47A1	55244	broad.mit.edu	37	17	19452976	19452976	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr17:19452976A>T	ENST00000270570.4	+	5	570	c.484A>T	c.(484-486)Att>Ttt	p.I162F	SLC47A1_ENST00000436810.2_Missense_Mutation_p.I139F|SLC47A1_ENST00000571335.1_Silent_p.S13S|SLC47A1_ENST00000575023.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000395585.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000457293.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000542886.1_Missense_Mutation_p.I162F	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	162					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CACGATCTTCATTCCAGCTCT	0.458																																																0													203	178	186					17																	19452976		2203	4300	6503	SO:0001583	missense	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.484A>T	17.37:g.19452976A>T	ENSP00000270570:p.Ile162Phe		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.681091	0.68042	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.43	4.34	0.51931	.	0.090793	0.85682	D	0.000000	T	0.59445	0.2194	M	0.90309	3.105	0.49213	D	0.999763	D;D;D;D	0.63046	0.958;0.992;0.979;0.961	P;D;D;D	0.65573	0.875;0.925;0.936;0.914	T	0.66602	-0.5882	10	0.87932	D	0	-14.4387	11.9014	0.52687	0.8542:0.1458:0.0:0.0	.	139;162;162;162	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	F	139;162;162;162;162	ENSP00000407155:I139F;ENSP00000270570:I162F;ENSP00000415586:I162F;ENSP00000440435:I162F;ENSP00000378951:I162F	ENSP00000270570:I162F	I	+	1	0	SLC47A1	19393568	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.386000	0.59620	0.884000	0.36064	0.455000	0.32223	ATT		0.458	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		T	19452976	A	T	19452976	3	4	381	1	0	0	0	0	1	0	0	0	14653	217	8	5	502	5	SLC47A1	17	19452976	Missense_Mutation	SNP	A	TCGA-BP-4965-01A-01D-1462-08	7674495	19452976	61742234	57	21191											
RNF213	57674	broad.mit.edu	37	17	78350219	78350219	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr17:78350219G>A	ENST00000582970.1	+	52	13447	c.13304G>A	c.(13303-13305)aGt>aAt	p.S4435N	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.S2508N|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S4484N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4435					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGGGGCCTAGTGACAGCAAC	0.498																																																0													156	135	142					17																	78350219		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13304G>A	17.37:g.78350219G>A	ENSP00000464087:p.Ser4435Asn		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	6.405	0.442910	0.12164	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21734	1.99	5.47	-0.644	0.11479	.	1.984530	0.01759	N	0.030409	T	0.11580	0.0282	N	0.14661	0.345	0.09310	N	1	B;B	0.17667	0.011;0.023	B;B	0.12837	0.004;0.008	T	0.19063	-1.0317	10	0.13470	T	0.59	.	5.0629	0.14566	0.3883:0.2851:0.3265:0.0	.	4484;2508	C9JCP4;Q63HN8	.;RN213_HUMAN	N	4435;4484;2508	ENSP00000338218:S2508N	ENSP00000338218:S2508N	S	+	2	0	RNF213	75964814	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.274000	0.18680	0.259000	0.21709	0.561000	0.74099	AGT		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78350219	G	A	78350219	3	1	381	1	0	0	0	0	1	0	0	0	13483	1029	36	2	13825	2	RNF213	17	78350219	Missense_Mutation	SNP	G	TCGA-BP-4965-01A-01D-1462-08	58897243	78350219	2844991	58	21192											
C18orf34	374864	broad.mit.edu	37	18	30847243	30847243	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr18:30847243C>A	ENST00000383096.3	-	13	1377	c.1195G>T	c.(1195-1197)Gtt>Ttt	p.V399F	CCDC178_ENST00000403303.1_Missense_Mutation_p.V399F|CCDC178_ENST00000406524.2_Missense_Mutation_p.V399F|CCDC178_ENST00000300227.8_Missense_Mutation_p.V399F|CCDC178_ENST00000583930.1_Missense_Mutation_p.V399F|CCDC178_ENST00000402325.1_Missense_Mutation_p.V399F|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.V399F			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	399																	TGGTCATAAACTCTTCTCAAA	0.308																																																0													71	75	74					18																	30847243		2203	4296	6499	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1195G>T	18.37:g.30847243C>A	ENSP00000372576:p.Val399Phe		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	1.514	-0.548759	0.04024	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.07	-8.14	0.01069	.	.	.	.	.	T	0.26304	0.0642	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.10450	0.003;0.003;0.005;0.003	T	0.19910	-1.0291	9	0.54805	T	0.06	10.2872	4.3856	0.11314	0.0953:0.0964:0.333:0.4753	.	399;399;399;399	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	F	399	ENSP00000385591:V399F;ENSP00000372576:V399F;ENSP00000300227:V399F;ENSP00000385867:V399F;ENSP00000385234:V399F	ENSP00000300227:V399F	V	-	1	0	C18orf34	29101241	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.846000	0.00352	-3.581000	0.00137	-0.373000	0.07131	GTT		0.308	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		A	30847243	C	A	30847243	3	1	381	1	0	0	0	0	1	0	0	0	1904	565	20	4	1452	4	C18orf34	18	30847243	Missense_Mutation	SNP	C	TCGA-BP-4965-01A-01D-1462-08		30847243	47230005	59	21193											
MUC16	94025	broad.mit.edu	37	19	9062202	9062202	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:9062202G>C	ENST00000397910.4	-	3	25447	c.25244C>G	c.(25243-25245)aCt>aGt	p.T8415S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8417	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAATCCAGAAGTCAGGGAGGA	0.517																																																0													84	80	82					19																	9062202		1992	4174	6166	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25244C>G	19.37:g.9062202G>C	ENSP00000381008:p.Thr8415Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.926	-0.017076	0.07681	.	.	ENSG00000181143	ENST00000397910	T	0.02369	4.32	2.61	-2.92	0.05615	.	.	.	.	.	T	0.01523	0.0049	N	0.05124	-0.11	.	.	.	B	0.28713	0.22	B	0.26517	0.07	T	0.44528	-0.9322	8	0.87932	D	0	.	6.5957	0.22672	0.1319:0.5823:0.2858:0.0	.	8415	B5ME49	.	S	8415	ENSP00000381008:T8415S	ENSP00000381008:T8415S	T	-	2	0	MUC16	8923202	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.255000	0.00538	-0.500000	0.06614	-0.742000	0.03525	ACT		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9062202	G	C	9062202	3	2	381	1	0	0	0	0	1	0	0	0	9975	1029	36	4	18607	4	MUC16	19	9062202	Missense_Mutation	SNP	G	TCGA-BP-4965-01A-01D-1462-08		9062202	50066781	60	21194											
SLC1A6	6511	broad.mit.edu	37	19	15083538	15083538	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:15083538G>C	ENST00000221742.3	-	1	192	c.185C>G	c.(184-186)aCg>aGg	p.T62R	SLC1A6_ENST00000544886.2_Missense_Mutation_p.T62R|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T62R|SLC1A6_ENST00000598504.1_Missense_Mutation_p.T62R|SLC1A6_ENST00000430939.2_Missense_Mutation_p.D66E	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	62					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGCGCTGACCGTCAGCAGAAT	0.627																																																0													29	29	29					19																	15083538		2201	4298	6499	SO:0001583	missense	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.185C>G	19.37:g.15083538G>C	ENSP00000221742:p.Thr62Arg		Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.935281|3.935281	0.73442|0.73442	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000430939|ENST00000221742;ENST00000544886;ENST00000542610	T|T;T	0.74209|0.59906	-0.82|0.23;0.23	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80088|0.80088	0.4559|0.4559	M|M	0.93016|0.93016	3.37|3.37	0.58432|0.58432	D|D	0.999996|0.999996	B|D;D;D	0.23650|0.89917	0.089|1.0;1.0;1.0	B|D;D;D	0.29942|0.91635	0.109|0.999;0.999;0.998	D|D	0.84599|0.84599	0.0671|0.0671	9|10	0.87932|0.87932	D|D	0|0	-25.7488|-25.7488	12.4519|12.4519	0.55681|0.55681	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	66|62;63;62	E7EV13|Q8N753;Q59GB0;P48664	.|.;.;EAA4_HUMAN	E|R	66|62;62;63	ENSP00000409386:D66E|ENSP00000221742:T62R;ENSP00000446175:T62R	ENSP00000409386:D66E|ENSP00000221742:T62R	D|T	-|-	3|2	2|0	SLC1A6|SLC1A6	14944538|14944538	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.810000|0.810000	0.45777|0.45777	7.717000|7.717000	0.84732|0.84732	2.306000|2.306000	0.77630|0.77630	0.313000|0.313000	0.20887|0.20887	GAC|ACG		0.627	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		C	15083538	G	C	15083538	3	2	381	1	0	0	0	0	1	0	0	0	14442	1145	40	4	1545	4	SLC1A6	19	15083538	Missense_Mutation	SNP	G	TCGA-BP-4965-01A-01D-1462-08	6021336	15083538	44045445	61	21195											
KLK12	43849	broad.mit.edu	37	19	51532649	51532649	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:51532649A>G	ENST00000525263.1	-	5	775	c.656T>C	c.(655-657)gTg>gCg	p.V219A	KLK12_ENST00000250351.4_Missense_Mutation_p.V219A|KLK12_ENST00000529888.1_3'UTR|KLK11_ENST00000391804.3_5'Flank|KLK11_ENST00000319720.7_5'Flank|CTC-518B2.9_ENST00000594910.1_RNA|KLK11_ENST00000453757.3_5'Flank|KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000600362.1_5'Flank|KLK11_ENST00000594768.1_5'Flank|KLK12_ENST00000319590.4_Missense_Mutation_p.V219A|KLK12_ENST00000250352.11_Missense_Mutation_p.V109A			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	219	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACAGGGCCCCACAGACCCCCA	0.552																																																0													90	90	90					19																	51532649		2203	4300	6503	SO:0001583	missense	43849				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.656T>C	19.37:g.51532649A>G	ENSP00000436458:p.Val219Ala		Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	a	16.42	3.119451	0.56505	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250352;ENST00000250351	D;D;T;D	0.89617	-2.47;-2.47;1.58;-2.54	4.33	3.32	0.38043	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.139340	0.06912	N	0.807803	T	0.79695	0.4490	N	0.04260	-0.245	0.28076	N	0.932382	B;B;B;B	0.29481	0.067;0.245;0.206;0.245	B;B;B;B	0.35182	0.03;0.197;0.124;0.197	T	0.71606	-0.4542	10	0.54805	T	0.06	.	8.1269	0.31003	0.9015:0.0:0.0985:0.0	.	109;109;219;219	B9EGA9;Q49AM7;Q9UKR0-2;Q9UKR0	.;.;.;KLK12_HUMAN	A	219;219;109;219	ENSP00000436458:V219A;ENSP00000324181:V219A;ENSP00000250352:V109A;ENSP00000250351:V219A	ENSP00000250351:V219A	V	-	2	0	KLK12	56224461	0.002000	0.14202	0.773000	0.31616	0.942000	0.58702	1.067000	0.30616	0.826000	0.34661	0.448000	0.29417	GTG		0.552	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		G	51532649	A	G	51532649	3	3	381	1	0	0	0	0	1	0	0	0	8402	159	6	3	156	3	KLK12	19	51532649	Missense_Mutation	SNP	A	TCGA-BP-4965-01A-01D-1462-08	36449111	51532649	7596334	62	21196											
GP6	51206	broad.mit.edu	37	19	55539166	55539166	+	Silent	SNP	T	T	A	rs115934645	byFrequency	TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:55539166T>A	ENST00000417454.1	-	4	417	c.390A>T	c.(388-390)gtA>gtT	p.V130V	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|GP6_ENST00000310373.3_Silent_p.V130V|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000333884.2_Silent_p.V130V	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	130	Ig-like C2-type 2.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ACTGTAGGGTTACGTCCCCTC	0.557													T|||	16	0.00319489	0.0106	0.0029	5008	,	,		18633	0.0		0.0	False		,,,				2504	0.0															0								T	,	34,3932		0,34,1949	112	126	122		390,390	-1.1	0.5	19	dbSNP_132	122	0,8290		0,0,4145	no	coding-synonymous,coding-synonymous	GP6	NM_001083899.1,NM_016363.4	,	0,34,6094	AA,AT,TT		0.0,0.8573,0.2774	,	130/621,130/340	55539166	34,12222	1983	4145	6128	SO:0001819	synonymous_variant	51206			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.390A>T	19.37:g.55539166T>A			Q9HCN7|Q9UIF2	Silent	SNP	ENST00000417454.1	37	CCDS46184.1																																																																																				0.557	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			A	55539166	T	A	55539166	2	1	381	1	0	0	0	0	0	0	0	1	6586	1741	61	5		5	GP6	19	55539166	Silent	SNP	T	TCGA-BP-4965-01A-01D-1462-08	4006517	55539166	3589817	63	21197											
PGK1	5230	broad.mit.edu	37	X	77369583	77369583	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chrX:77369583T>A	ENST00000373316.4	+	4	510	c.343T>A	c.(343-345)Tct>Act	p.S115T	PGK1_ENST00000537456.1_Missense_Mutation_p.S87T|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	115					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	AGCTGCTGGGTCTGTCATCCT	0.493																																																0													129	133	131					X																	77369583		2203	4296	6499	SO:0001583	missense	5230			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.343T>A	X.37:g.77369583T>A	ENSP00000362413:p.Ser115Thr		A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	t	13.03	2.113940	0.37339	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.91996	-2.95;-2.95	4.98	3.77	0.43336	Phosphoglycerate kinase, N-terminal (1);	0.103855	0.64402	N	0.000002	D	0.86904	0.6045	L	0.44542	1.39	0.39779	D	0.972275	B	0.14012	0.009	B	0.17433	0.018	T	0.79888	-0.1613	10	0.33940	T	0.23	-27.0334	8.0477	0.30559	0.3396:0.0:0.0:0.6604	.	115	P00558	PGK1_HUMAN	T	115;87	ENSP00000362413:S115T;ENSP00000444708:S87T	ENSP00000362413:S115T	S	+	1	0	PGK1	77256239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.733000	0.55029	0.626000	0.30322	0.478000	0.44815	TCT		0.493	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			A	77369583	T	A	77369583	3	1	381	1	0	0	0	0	1	0	0	0	11792	1667	58	5	357	5	PGK1	23	77369583	Missense_Mutation	SNP	T	TCGA-BP-4965-01A-01D-1462-08		77369583	77900977	64	21198											
AHDC1	27245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27874262	27874262	+	Silent	SNP	G	G	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:27874262G>A	ENST00000247087.5	-	5	4961	c.4365C>T	c.(4363-4365)caC>caT	p.H1455H	AHDC1_ENST00000374011.2_Silent_p.H1455H			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1455							DNA binding (GO:0003677)	p.H1455H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGAATCGTAGTGGGGCTGGC	0.697																																																1	Substitution - coding silent(1)	kidney(1)											11	12	11					1																	27874262		2186	4288	6474	SO:0001819	synonymous_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4365C>T	1.37:g.27874262G>A			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	CCDS30652.1																																																																																				0.697	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			A	27874262	G	A	27874262	2	1	382	1	0	0	0	0	0	0	0	1	412	1020	36	2		2	AHDC1	1	27874262	Silent	SNP	G	TCGA-BP-4967-01A-01D-1462-08		27874262	221376359	1	21199											
TXLNA	200081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32646917	32646917	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:32646917A>C	ENST00000373609.1	+	2	525	c.244A>C	c.(244-246)Ata>Cta	p.I82L	TXLNA_ENST00000373610.3_Missense_Mutation_p.I82L			P40222	TXLNA_HUMAN	taxilin alpha	82					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)	p.I82L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACTGGAAGACATACTGAGCAC	0.612																																																1	Substitution - Missense(1)	kidney(1)											38	42	41					1																	32646917		2203	4300	6503	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.244A>C	1.37:g.32646917A>C	ENSP00000362711:p.Ile82Leu		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	CCDS353.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334261	0.81801	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.58060	0.36;0.36	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.71036	2.16	0.45025	D	0.998045	B	0.28900	0.227	B	0.27262	0.078	T	0.58002	-0.7713	10	0.59425	D	0.04	-14.5449	14.5494	0.68054	1.0:0.0:0.0:0.0	.	82	P40222	TXLNA_HUMAN	L	82	ENSP00000362712:I82L;ENSP00000362711:I82L	ENSP00000362711:I82L	I	+	1	0	TXLNA	32419504	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.663000	0.91134	1.987000	0.57996	0.529000	0.55759	ATA		0.612	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		C	32646917	A	C	32646917	3	2	382	1	0	0	0	0	1	0	0	0	16792	217	8	5	250	5	TXLNA	1	32646917	Missense_Mutation	SNP	A	TCGA-BP-4967-01A-01D-1462-08	4772655	32646917	216603704	2	21200											
EIF2C3	192669	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36499790	36499790	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:36499790T>G	ENST00000373191.4	+	13	1956	c.1607T>G	c.(1606-1608)gTa>gGa	p.V536G	AGO3_ENST00000246314.6_Missense_Mutation_p.V302G	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	536	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.V536G(1)									GTGAAACGTGTAGGAGACACA	0.348																																																1	Substitution - Missense(1)	kidney(1)											68	64	66					1																	36499790		2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1607T>G	1.37:g.36499790T>G	ENSP00000362287:p.Val536Gly		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444693	0.83993	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.32023	1.47;1.47	4.65	4.65	0.58169	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	H	0.94734	3.575	0.80722	D	1	D	0.62365	0.991	D	0.72625	0.978	T	0.76958	-0.2766	10	0.87932	D	0	-34.2932	14.3595	0.66761	0.0:0.0:0.0:1.0	.	536	Q9H9G7	AGO3_HUMAN	G	536;302	ENSP00000362287:V536G;ENSP00000246314:V302G	ENSP00000246314:V302G	V	+	2	0	EIF2C3	36272377	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	1.855000	0.53841	0.533000	0.62120	GTA		0.348	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		G	36499790	T	G	36499790	3	3	382	1	0	0	0	0	1	0	0	0	5009	1638	57	5	1657	5	EIF2C3	1	36499790	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08	3852873	36499790	212750831	3	21201											
RIMKLA	284716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	42880262	42880262	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:42880262G>C	ENST00000431473.3	+	5	922	c.793G>C	c.(793-795)Gac>Cac	p.D265H		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	265	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.D224H(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTTATCATGGACGATGGCTC	0.502																																																1	Substitution - Missense(1)	kidney(1)											351	308	323					1																	42880262		2203	4300	6503	SO:0001583	missense	284716			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.793G>C	1.37:g.42880262G>C	ENSP00000414330:p.Asp265His		Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	CCDS466.2	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135735	0.56828	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.22	5.22	0.72569	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.047706	0.85682	D	0.000000	T	0.77491	0.4138	M	0.70108	2.13	0.43988	D	0.99668	D	0.61080	0.989	D	0.67382	0.951	T	0.80016	-0.1559	9	0.72032	D	0.01	-1.394	16.2864	0.82724	0.0:0.0:1.0:0.0	.	265	Q8IXN7	RIMKA_HUMAN	H	265	.	ENSP00000414330:D265H	D	+	1	0	RIMKLA	42652849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.916000	0.69981	2.442000	0.82660	0.555000	0.69702	GAC		0.502	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		C	42880262	G	C	42880262	3	2	382	1	0	0	0	0	1	0	0	0	13371	1174	41	4	811	4	RIMKLA	1	42880262	Missense_Mutation	SNP	G	TCGA-BP-4967-01A-01D-1462-08	6380472	42880262	206370359	4	21202											
BSND	7809	hgsc.bcm.edu;ucsc.edu	37	1	55464986	55464986	+	Missense_Mutation	SNP	G	G	A	rs34561376	byFrequency	TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:55464986G>A	ENST00000371265.4	+	1	381	c.127G>A	c.(127-129)Gtc>Atc	p.V43I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	43			V -> I (in dbSNP:rs34561376).		ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CATGGGCAGCGTCATGGTGAT	0.632													G|||	409	0.0816693	0.1422	0.0144	5008	,	,		16970	0.1974		0.001	False		,,,				2504	0.0112				Ovarian(191;1657 2078 22894 42033 48899)											0			GRCh37	CM077510	BSND	M	rs34561376	G	ILE/VAL	543,3863	246.5+/-255.1	28,487,1688	89	78	82		127	-2.8	0	1	dbSNP_126	82	11,8589	8.4+/-32.0	0,11,4289	yes	missense	BSND	NM_057176.2	29	28,498,5977	AA,AG,GG		0.1279,12.3241,4.2596	benign	43/321	55464986	554,12452	2203	4300	6503	SO:0001583	missense	7809			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.127G>A	1.37:g.55464986G>A	ENSP00000360312:p.Val43Ile		Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	CCDS602.1	168	0.07692307692307693	52	0.10569105691056911	4	0.011049723756906077	111	0.19405594405594406	1	0.0013192612137203166	G	0.074	-1.197095	0.01594	0.123241	0.001279	ENSG00000162399	ENST00000371265	T	0.65549	-0.16	4.3	-2.78	0.05859	.	0.719733	0.11692	N	0.538781	T	0.00039	0.0001	N	0.11927	0.2	0.58432	P	1.0000000000287557E-6	B	0.09022	0.002	B	0.04013	0.001	T	0.11641	-1.0579	9	0.02654	T	1	-10.4804	7.9791	0.30172	0.3996:0.1599:0.4405:0.0	rs34561376	43	Q8WZ55	BSND_HUMAN	I	43	ENSP00000360312:V43I	ENSP00000360312:V43I	V	+	1	0	BSND	55237574	0.000000	0.05858	0.041000	0.18516	0.732000	0.41865	-0.294000	0.08309	-0.513000	0.06496	-1.303000	0.01326	GTC		0.632	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		A	55464986	G	A	55464986	3	1	382	1	0	0	0	0	1	0	0	0	1533	1145	40	1	129	1	BSND	1	55464986	Missense_Mutation	SNP	G	TCGA-BP-4967-01A-01D-1462-08	12584724	55464986	193785635	5	21203											
RPL5	6125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	93299160	93299160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:93299160C>A	ENST00000370321.3	+	3	222	c.132C>A	c.(130-132)taC>taA	p.Y44*		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	44					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.Y44*(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AAAATAAATACAACACACCCA	0.343																																																1	Substitution - Nonsense(1)	kidney(1)											60	64	62					1																	93299160		2203	4300	6503	SO:0001587	stop_gained	6125			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.132C>A	1.37:g.93299160C>A	ENSP00000359345:p.Tyr44*		Q32LZ3|Q53HH6|Q9H3F4	Nonsense_Mutation	SNP	ENST00000370321.3	37	CCDS741.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114816	0.94339	.	.	ENSG00000122406	ENST00000370321	.	.	.	4.69	3.55	0.40652	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.673	0.62436	0.0:0.9105:0.0:0.0895	.	.	.	.	X	44	.	ENSP00000359345:Y44X	Y	+	3	2	RPL5	93071748	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.088000	0.41663	2.141000	0.66446	0.561000	0.74099	TAC		0.343	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		A	93299160	C	A	93299160	4	1	382	1	0	0	0	0	0	1	0	0	13603	489	17	4	142	4	RPL5	1	93299160	Nonsense_Mutation	SNP	C	TCGA-BP-4967-01A-01D-1462-08	37834174	93299160	155951461	6	21204											
ITGA10	8515	broad.mit.edu;hgsc.bcm.edu	37	1	145534208	145534208	+	Silent	SNP	G	G	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:145534208G>A	ENST00000369304.3	+	14	1888	c.1713G>A	c.(1711-1713)gcG>gcA	p.A571A	ITGA10_ENST00000538811.1_Silent_p.A440A|ITGA10_ENST00000539363.1_Silent_p.A428A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	571					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.A571A(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGTGGGGGCGCCTCTGGAAG	0.577																																																1	Substitution - coding silent(1)	kidney(1)											108	114	112					1																	145534208		2203	4300	6503	SO:0001819	synonymous_variant	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1713G>A	1.37:g.145534208G>A			B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	CCDS918.1																																																																																				0.577	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		A	145534208	G	A	145534208	2	1	382	1	0	0	0	0	0	0	0	1	7875	1074	38	1		1	ITGA10	1	145534208	Silent	SNP	G	TCGA-BP-4967-01A-01D-1462-08	52235048	145534208	103716413	7	21205											
IGSF8	93185	broad.mit.edu;hgsc.bcm.edu	37	1	160063938	160063938	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:160063938A>G	ENST00000368086.1	-	3	682	c.466T>C	c.(466-468)Tct>Cct	p.S156P	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.S156P			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	156					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S156P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGGGCAGCAGACACCTGGAGG	0.647																																																1	Substitution - Missense(1)	kidney(1)											13	12	12					1																	160063938		2198	4296	6494	SO:0001583	missense	93185			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.466T>C	1.37:g.160063938A>G	ENSP00000357065:p.Ser156Pro		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.428614	0.62844	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.11930	3.28;3.28;2.73	4.19	4.19	0.49359	.	0.181299	0.34484	N	0.003922	T	0.17066	0.0410	L	0.46157	1.445	0.46298	D	0.998971	D	0.89917	1.0	D	0.69307	0.963	T	0.01452	-1.1351	10	0.33940	T	0.23	-11.5712	12.6613	0.56815	1.0:0.0:0.0:0.0	.	156	Q969P0	IGSF8_HUMAN	P	156	ENSP00000316664:S156P;ENSP00000357065:S156P;ENSP00000397464:S156P	ENSP00000316664:S156P	S	-	1	0	IGSF8	158330562	0.787000	0.28750	0.996000	0.52242	0.806000	0.45545	0.714000	0.25808	1.899000	0.54978	0.482000	0.46254	TCT		0.647	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		G	160063938	A	G	160063938	3	3	382	1	0	0	0	0	1	0	0	0	7606	275	10	3	1391	3	IGSF8	1	160063938	Missense_Mutation	SNP	A	TCGA-BP-4967-01A-01D-1462-08	14529730	160063938	89186683	8	21206											
RXRG	6258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	165386398	165386398	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:165386398T>C	ENST00000359842.5	-	4	804	c.502A>G	c.(502-504)Agg>Ggg	p.R168G	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	168					gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R168G(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	AGGTCCTTCCTTATCGTCCTC	0.468																																																1	Substitution - Missense(1)	kidney(1)											196	172	180					1																	165386398		2203	4300	6503	SO:0001583	missense	6258			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.502A>G	1.37:g.165386398T>C	ENSP00000352900:p.Arg168Gly		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505987	0.64410	.	.	ENSG00000143171	ENST00000359842	D	0.97378	-4.36	4.96	-0.394	0.12434	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.049190	0.85682	N	0.000000	D	0.97823	0.9285	M	0.85542	2.76	0.80722	D	1.000000	D	0.76494	0.999	D	0.81914	0.995	D	0.98183	1.0458	9	0.87932	D	0	.	15.0317	0.71713	0.0:0.0:0.6311:0.3689	.	168	P48443	RXRG_HUMAN	G	168	ENSP00000352900:R168G	ENSP00000352900:R168G	R	-	1	2	RXRG	163653022	0.887000	0.30362	0.607000	0.28956	0.969000	0.65631	0.299000	0.19138	-0.236000	0.09753	0.533000	0.62120	AGG		0.468	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		C	165386398	T	C	165386398	3	2	382	1	0	0	0	0	1	0	0	0	13771	1608	56	3	917	3	RXRG	1	165386398	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08	5322460	165386398	83864223	9	21207											
RABGAP1L	9910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	174245014	174245014	+	Missense_Mutation	SNP	C	C	T	rs533934955		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:174245014C>T	ENST00000251507.4	+	9	1271	c.1097C>T	c.(1096-1098)aCt>aTt	p.T366I	RABGAP1L_ENST00000367689.3_Missense_Mutation_p.T13I|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.T329I	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.T366I(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TATGTCATCACTGGCATGTGG	0.363																																																1	Substitution - Missense(1)	kidney(1)											104	104	104					1																	174245014		2203	4300	6503	SO:0001583	missense	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1097C>T	1.37:g.174245014C>T	ENSP00000251507:p.Thr366Ile		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826935	0.90955	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.46819	0.86;3.47;0.88	5.37	5.37	0.77165	.	0.050900	0.85682	N	0.000000	T	0.64549	0.2608	L	0.46741	1.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.993;0.993;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.968;0.968;0.998	T	0.64639	-0.6360	10	0.54805	T	0.06	.	19.1063	0.93296	0.0:1.0:0.0:0.0	.	378;13;366;366;329	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	I	329;13;366;378;378	ENSP00000350027:T329I;ENSP00000251507:T366I;ENSP00000403136:T378I	ENSP00000251507:T366I	T	+	2	0	RABGAP1L	172511637	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.336000	0.79245	2.528000	0.85240	0.551000	0.68910	ACT		0.363	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		T	174245014	C	T	174245014	3	4	382	1	0	0	0	0	1	0	0	0	12971	565	20	2	1127	2	RABGAP1L	1	174245014	Missense_Mutation	SNP	C	TCGA-BP-4967-01A-01D-1462-08	8858616	174245014	75005607	10	21208											
PTPRC	5788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	198687421	198687421	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:198687421delA	ENST00000367376.2	+	14	1814	c.1643delA	c.(1642-1644)tacfs	p.Y548fs	PTPRC_ENST00000348564.6_Frame_Shift_Del_p.Y389fs|PTPRC_ENST00000594404.1_Frame_Shift_Del_p.Y387fs|PTPRC_ENST00000442510.2_Frame_Shift_Del_p.Y550fs|PTPRC_ENST00000352140.3_Frame_Shift_Del_p.Y500fs	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	548	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAACAGACTACACTTTTAAG	0.333																																																0													50	48	49					1																	198687421		2202	4300	6502	SO:0001589	frameshift_variant	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1643delA	1.37:g.198687421delA	ENSP00000356346:p.Tyr548fs		A8K7W6|Q16614|Q9H0Y6	Frame_Shift_Del	DEL	ENST00000367376.2	37																																																																																					0.333	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				-	198687421	A	-	198687421	7	5	382	1	0	1	0	1	0	0	0	0	12803	391	14	0	1704	0	PTPRC	1	198687421	Frame_Shift_Del	DEL	A	TCGA-BP-4967-01A-01D-1462-08	24442407	198687421	50563200	11	21209											
CHIT1	1118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203188874	203188874	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:203188874T>A	ENST00000367229.1	-	8	867	c.833A>T	c.(832-834)gAc>gTc	p.D278V	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.D269V|CHIT1_ENST00000255427.3_Missense_Mutation_p.D259V	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	278					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.D278V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CACTCTGGTGTCTGATGAGGA	0.602																																																1	Substitution - Missense(1)	kidney(1)											50	51	51					1																	203188874		2203	4300	6503	SO:0001583	missense	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.833A>T	1.37:g.203188874T>A	ENSP00000356198:p.Asp278Val		B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.682132	0.29872	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06068	3.35;3.35;3.35	5.2	4.08	0.47627	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.623392	0.15004	N	0.285965	T	0.14960	0.0361	L	0.50333	1.59	0.51482	D	0.999927	D;B;D	0.58620	0.973;0.165;0.983	P;B;P	0.59056	0.791;0.117;0.851	T	0.00647	-1.1628	10	0.72032	D	0.01	-11.4689	9.0722	0.36500	0.0:0.0872:0.0:0.9128	.	278;269;278	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	V	278;259;269	ENSP00000356198:D278V;ENSP00000255427:D259V;ENSP00000438078:D269V	ENSP00000255427:D259V	D	-	2	0	CHIT1	201455497	0.882000	0.30256	0.053000	0.19242	0.681000	0.39784	1.541000	0.36126	0.820000	0.34516	0.533000	0.62120	GAC		0.602	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		A	203188874	T	A	203188874	3	1	382	1	0	0	0	0	1	0	0	0	3348	1667	58	5	583	5	CHIT1	1	203188874	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08	4501453	203188874	46061747	12	21210											
KCNK2	3776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	215408257	215408257	+	Silent	SNP	G	G	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:215408257G>A	ENST00000444842.2	+	7	1200	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	KCNK2_ENST00000391895.2_Silent_p.E346E|KCNK2_ENST00000391894.2_Silent_p.E335E	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	350					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.E335E(1)|p.E350E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	TGAGTGTGGAGATTTATGACA	0.547																																																2	Substitution - coding silent(2)	kidney(2)											88	84	86					1																	215408257		2203	4300	6503	SO:0001819	synonymous_variant	3776			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1050G>A	1.37:g.215408257G>A			A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	ENST00000444842.2	37	CCDS41467.1																																																																																				0.547	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		A	215408257	G	A	215408257	2	1	382	1	0	0	0	0	0	0	0	1	8068	933	33	2		2	KCNK2	1	215408257	Silent	SNP	G	TCGA-BP-4967-01A-01D-1462-08	12219383	215408257	33842364	13	21211											
SOS1	6654	broad.mit.edu;hgsc.bcm.edu	37	2	39222302	39222302	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr2:39222302C>T	ENST00000426016.1	-	21	3394	c.3308G>A	c.(3307-3309)aGt>aAt	p.S1103N	SOS1_ENST00000395038.2_Missense_Mutation_p.S1103N|SOS1-IT1_ENST00000594472.1_RNA|SOS1_ENST00000402219.2_Missense_Mutation_p.S1103N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1103					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1103N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATCAAATACACTGCAAACATC	0.413									Noonan syndrome																																							1	Substitution - Missense(1)	kidney(1)											126	112	117					2																	39222302		2203	4300	6503	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3308G>A	2.37:g.39222302C>T	ENSP00000387784:p.Ser1103Asn		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287309	0.80803	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.79845	-1.06;-1.06;-1.31	5.91	5.91	0.95273	.	0.204735	0.53938	D	0.000050	D	0.86560	0.5962	L	0.50333	1.59	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.81154	-0.1062	10	0.18276	T	0.48	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	1103	Q07889	SOS1_HUMAN	N	1103;1103;835;1103	ENSP00000387784:S1103N;ENSP00000384675:S1103N;ENSP00000378479:S1103N	ENSP00000378479:S1103N	S	-	2	0	SOS1	39075806	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.361000	0.66092	2.813000	0.96785	0.655000	0.94253	AGT		0.413	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		T	39222302	C	T	39222302	3	4	382	1	0	0	0	0	1	0	0	0	14942	565	20	2	709	2	SOS1	2	39222302	Missense_Mutation	SNP	C	TCGA-BP-4967-01A-01D-1462-08		39222302	203977071	14	21212											
TMEM150A	129303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	85828149	85828149	+	Silent	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr2:85828149G>T	ENST00000409668.1	-	3	662	c.195C>A	c.(193-195)ctC>ctA	p.L65L	TMEM150A_ENST00000306353.3_Nonsense_Mutation_p.S35*|TMEM150A_ENST00000334462.5_Silent_p.L65L			Q86TG1	T150A_HUMAN	transmembrane protein 150A	65					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L65L(1)		breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CTTACCTGATGAGGGGGACAT	0.607																																																1	Substitution - coding silent(1)	kidney(1)											50	47	48					2																	85828149		2203	4300	6503	SO:0001819	synonymous_variant	129303			AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"transmembrane protein 150"	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.195C>A	2.37:g.85828149G>T			A8K764|B7WPQ9|D6W5L2|Q8N2R6	Silent	SNP	ENST00000409668.1	37	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	G	37	6.314399	0.97467	.	.	ENSG00000168890	ENST00000306353;ENST00000425160	.	.	.	5.06	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-33.8669	10.7199	0.46034	0.0:0.0:0.8095:0.1905	.	.	.	.	X	35	.	ENSP00000302715:S35X	S	-	2	0	TMEM150A	85681660	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.717000	0.47227	1.072000	0.40860	0.655000	0.94253	TCA		0.607	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		T	85828149	G	T	85828149	2	4	382	1	0	0	0	0	0	0	0	1	16072	1277	45	4		4	TMEM150A	2	85828149	Silent	SNP	G	TCGA-BP-4967-01A-01D-1462-08	46605847	85828149	157371224	15	21213											
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152362014	152362014	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr2:152362014delT	ENST00000172853.10	-	137	18764	c.18617delA	c.(18616-18618)gagfs	p.E6206fs	NEB_ENST00000397345.3_Frame_Shift_Del_p.E7907fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.E7907fs|NEB_ENST00000509223.2_Frame_Shift_Del_p.E37fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.E7907fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.E7907fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.E6206fs|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397336.2_5'Flank			P20929	NEBU_HUMAN	nebulin	6206					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTCTGCGTCTCCTTCACACG	0.463																																																0													252	253	252					2																	152362014		2032	4179	6211	SO:0001589	frameshift_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18617delA	2.37:g.152362014delT	ENSP00000172853:p.Glu6206fs		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	37																																																																																					0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		-	152362014	T	-	152362014	7	5	382	1	0	1	0	1	0	0	0	0	10304	1551	54	0	1929	0	NEB	2	152362014	Frame_Shift_Del	DEL	T	TCGA-BP-4967-01A-01D-1462-08	66533865	152362014	90837359	16	21214											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188263	10188263	+	Missense_Mutation	SNP	T	T	G	rs397516442		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr3:10188263T>G	ENST00000256474.2	+	2	1246	c.406T>G	c.(406-408)Ttt>Gtt	p.F136V	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	136	Involved in binding to CCT complex.		F -> C (in pheochromocytoma and VHLD; type II; dbSNP:rs5030833). {ECO:0000269|PubMed:12000816}.|F -> S (in VHLD). {ECO:0000269|PubMed:9829912}.|F -> Y (in VHLD).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.F136V(4)|p.V137fs*7(4)|p.F136fs*23(3)|p.F136I(1)|p.E134fs*7(1)|p.F136del(1)|p.?fs(1)|p.N131fs*7(1)|p.L135fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AACTGAATTATTTGTGCCATC	0.428		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Deletion - Frameshift(6)|Substitution - Missense(5)|Insertion - Frameshift(5)|Deletion - In frame(1)	kidney(17)											215	200	205					3																	10188263		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.406T>G	3.37:g.10188263T>G	ENSP00000256474:p.Phe136Val		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.385507	0.82792	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99866	-7.3	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.112845	0.64402	D	0.000007	D	0.99704	0.9887	L	0.52126	1.63	0.80722	D	1	D	0.64830	0.994	D	0.69824	0.966	D	0.96824	0.9606	10	0.87932	D	0	-2.7256	13.0887	0.59156	0.0:0.0:0.0:1.0	.	136	P40337	VHL_HUMAN	V	136;54	ENSP00000256474:F136V	ENSP00000256474:F136V	F	+	1	0	VHL	10163263	1.000000	0.71417	0.915000	0.36163	0.888000	0.51559	5.968000	0.70413	2.047000	0.60756	0.460000	0.39030	TTT		0.428	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10188263	T	G	10188263	3	3	382	1	0	0	0	0	1	0	0	0	17167	1493	52	5	412	5	VHL	3	10188263	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08		10188263	187834167	17	21215											
SLC7A14	57709	broad.mit.edu;hgsc.bcm.edu	37	3	170244556	170244556	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr3:170244556T>C	ENST00000231706.5	-	2	485	c.170A>G	c.(169-171)gAc>gGc	p.D57G	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	57					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.D57G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGAGATGAGGTCCACTGTGGT	0.572																																																1	Substitution - Missense(1)	kidney(1)											263	197	219					3																	170244556		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.170A>G	3.37:g.170244556T>C	ENSP00000231706:p.Asp57Gly		B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.599534	0.87055	.	.	ENSG00000013293	ENST00000231706	D	0.89343	-2.5	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.94915	0.8356	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95758	0.8798	10	0.87932	D	0	.	14.9837	0.71330	0.0:0.0:0.0:1.0	.	57	Q8TBB6	S7A14_HUMAN	G	57	ENSP00000231706:D57G	ENSP00000231706:D57G	D	-	2	0	SLC7A14	171727250	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	7.881000	0.87252	1.994000	0.58287	0.459000	0.35465	GAC		0.572	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		C	170244556	T	C	170244556	3	2	382	1	0	0	0	0	1	0	0	0	14702	1667	58	3	2173	3	SLC7A14	3	170244556	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08	160056293	170244556	27777874	18	21216											
MAP9	79884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	156281456	156281457	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr4:156281456_156281457insT	ENST00000311277.4	-	7	1176_1177	c.913_914insA	c.(913-915)agtfs	p.S305fs	AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000598890.1_RNA|MAP9_ENST00000515654.1_Frame_Shift_Ins_p.S281fs|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000594666.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	305					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AGTCACTTGACTTTCCTTGGAT	0.371																																																0																																										SO:0001589	frameshift_variant	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.914dupA	4.37:g.156281459_156281459dupT	ENSP00000310593:p.Ser305fs		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Frame_Shift_Ins	INS	ENST00000311277.4	37	CCDS35493.1																																																																																				0.371	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		T	156281457	-	T	156281456	7	5	382	1	0	1	1	0	0	0	0	0	9272	565	20	0	1061	0	MAP9	4	156281456	Frame_Shift_Ins	INS	-	TCGA-BP-4967-01A-01D-1462-08		156281456	34872820	19	21217											
WWC2	80014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	184175071	184175071	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr4:184175071delA	ENST00000403733.3	+	9	1314	c.1115delA	c.(1114-1116)gaafs	p.E372fs	WWC2_ENST00000378925.3_Frame_Shift_Del_p.E274fs|WWC2_ENST00000504005.1_Frame_Shift_Del_p.E54fs|WWC2_ENST00000448232.2_Frame_Shift_Del_p.E372fs|WWC2_ENST00000513834.1_Frame_Shift_Del_p.E372fs	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	372					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GATGAATTAGAACGCCTAGAA	0.453																																																0													68	74	72					4																	184175071		2203	4300	6503	SO:0001589	frameshift_variant	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1115delA	4.37:g.184175071delA	ENSP00000384222:p.Glu372fs		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Frame_Shift_Del	DEL	ENST00000403733.3	37	CCDS34109.2																																																																																				0.453	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		-	184175071	A	-	184175071	7	5	382	1	0	1	0	1	0	0	0	0	17417	246	9	0	1149	0	WWC2	4	184175071	Frame_Shift_Del	DEL	A	TCGA-BP-4967-01A-01D-1462-08	27893615	184175071	6979205	20	21218											
PAIP1	10605	broad.mit.edu;hgsc.bcm.edu	37	5	43543190	43543190	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr5:43543190A>T	ENST00000306846.3	-	4	882	c.650T>A	c.(649-651)aTg>aAg	p.M217K	PAIP1_ENST00000338972.4_Missense_Mutation_p.M105K|PAIP1_ENST00000436644.2_Missense_Mutation_p.M138K|PAIP1_ENST00000514514.1_Missense_Mutation_p.M138K	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	217	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.M217K(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GCGAGCTCCCATATAAGAGAA	0.373																																																1	Substitution - Missense(1)	kidney(1)											69	72	71					5																	43543190		2203	4300	6503	SO:0001583	missense	10605			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.650T>A	5.37:g.43543190A>T	ENSP00000302768:p.Met217Lys		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404322	0.42613	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000504075	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	5.34	4.13	0.48395	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.083376	0.85682	D	0.000000	T	0.27454	0.0674	L	0.57536	1.79	0.45607	D	0.998541	P;P;B	0.39551	0.525;0.678;0.256	B;B;B	0.43536	0.277;0.423;0.099	T	0.04360	-1.0957	10	0.51188	T	0.08	-1.9476	6.288	0.21043	0.784:0.0:0.0748:0.1411	.	138;217;138	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	K	217;138;105;138;105;105;1	ENSP00000302768:M217K;ENSP00000387729:M138K;ENSP00000339622:M105K;ENSP00000425084:M138K;ENSP00000425675:M105K;ENSP00000425736:M105K	ENSP00000302768:M217K	M	-	2	0	PAIP1	43578947	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.652000	0.67959	2.017000	0.59298	0.477000	0.44152	ATG		0.373	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		T	43543190	A	T	43543190	3	4	382	1	0	0	0	0	1	0	0	0	11398	217	8	5	821	5	PAIP1	5	43543190	Missense_Mutation	SNP	A	TCGA-BP-4967-01A-01D-1462-08		43543190	137372070	21	21219											
ITGA1	3672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	52221264	52221264	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr5:52221264A>T	ENST00000282588.6	+	19	3018	c.2560A>T	c.(2560-2562)Aac>Tac	p.N854Y		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	854					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.N854Y(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGTGCCTATAACACCAGGAC	0.388																																																1	Substitution - Missense(1)	kidney(1)											137	117	124					5																	52221264		2203	4300	6503	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2560A>T	5.37:g.52221264A>T	ENSP00000282588:p.Asn854Tyr		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298675	0.81025	.	.	ENSG00000213949	ENST00000282588	T	0.51071	0.72	5.66	5.66	0.87406	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.67325	0.2881	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68606	-0.5364	10	0.51188	T	0.08	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	854	P56199	ITA1_HUMAN	Y	854	ENSP00000282588:N854Y	ENSP00000282588:N854Y	N	+	1	0	ITGA1	52257021	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	6.852000	0.75430	2.146000	0.66826	0.533000	0.62120	AAC		0.388	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		T	52221264	A	T	52221264	3	4	382	1	0	0	0	0	1	0	0	0	7874	362	13	5	2634	5	ITGA1	5	52221264	Missense_Mutation	SNP	A	TCGA-BP-4967-01A-01D-1462-08	8678074	52221264	128693996	22	21220											
SEC24A	10802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	133996855	133996855	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr5:133996855A>C	ENST00000398844.2	+	2	432	c.144A>C	c.(142-144)caA>caC	p.Q48H	SEC24A_ENST00000322887.4_Missense_Mutation_p.Q48H	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	48					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.Q48Q(1)|p.Q48H(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTGAGCCAAGGATACAATT	0.418																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											256	249	251					5																	133996855		1917	4127	6044	SO:0001583	missense	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.144A>C	5.37:g.133996855A>C	ENSP00000381823:p.Gln48His		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.924305	0.73213	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97089	-4.24;-4.24	5.78	5.78	0.91487	.	2.767080	0.00870	N	0.002014	D	0.96269	0.8783	L	0.34521	1.04	0.43399	D	0.99552	P	0.37955	0.612	B	0.43575	0.424	D	0.84365	0.0540	10	0.59425	D	0.04	4.7955	11.9951	0.53196	0.9307:0.0:0.0693:0.0	.	48	O95486	SC24A_HUMAN	H	48	ENSP00000381823:Q48H;ENSP00000321749:Q48H	ENSP00000321749:Q48H	Q	+	3	2	SEC24A	134024754	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.349000	0.44054	2.205000	0.71048	0.533000	0.62120	CAA		0.418	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			C	133996855	A	C	133996855	3	2	382	1	0	0	0	0	1	0	0	0	14000	69	3	5	150	5	SEC24A	5	133996855	Missense_Mutation	SNP	A	TCGA-BP-4967-01A-01D-1462-08	81775591	133996855	46918405	23	21221											
CYFIP2	26999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156810297	156810297	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr5:156810297T>G	ENST00000521420.1	+	27	3150	c.3059T>G	c.(3058-3060)aTg>aGg	p.M1020R	CYFIP2_ENST00000541131.1_Missense_Mutation_p.M971R|CTB-47B11.3_ENST00000520658.1_RNA|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000347377.6_Missense_Mutation_p.M1046R|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M745R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M1071R|CTB-47B11.3_ENST00000508443.1_RNA|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M1046R|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M850R					cytoplasmic FMR1 interacting protein 2									p.M1071R(2)|p.M1046R(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGGTCCGGATGAAACGTCTG	0.557																																																3	Substitution - Missense(3)	kidney(3)											36	39	38					5																	156810297		1906	4101	6007	SO:0001583	missense	26999			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3059T>G	5.37:g.156810297T>G	ENSP00000430904:p.Met1020Arg			Missense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	T	18.77	3.693876	0.68386	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.12	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	L	0.31065	0.9	0.80722	D	1	B;B;P;B;B;B	0.38745	0.073;0.033;0.645;0.017;0.066;0.249	B;B;P;B;B;B	0.44772	0.017;0.038;0.46;0.006;0.03;0.17	T	0.02269	-1.1185	10	0.23302	T	0.38	-12.5771	11.2081	0.48782	0.1376:0.0:0.0:0.8624	.	910;850;1020;1046;1046;1071	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	R	1071;850;1020;1046;1046;971;745	ENSP00000325817:M1071R;ENSP00000428009:M850R;ENSP00000430904:M1020R;ENSP00000313567:M1046R;ENSP00000366799:M1046R;ENSP00000444645:M971R;ENSP00000403793:M745R	ENSP00000325817:M1071R	M	+	2	0	CYFIP2	156742875	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	7.887000	0.87295	0.764000	0.33197	0.460000	0.39030	ATG		0.557	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		G	156810297	T	G	156810297	3	3	382	1	0	0	0	0	1	0	0	0	4140	1464	51	5	3243	5	CYFIP2	5	156810297	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08	22813442	156810297	24104963	24	21222											
KIF13A	63971	broad.mit.edu;hgsc.bcm.edu	37	6	17850652	17850652	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:17850652G>C	ENST00000259711.6	-	8	724	c.619C>G	c.(619-621)Cga>Gga	p.R207G	KIF13A_ENST00000378816.5_Missense_Mutation_p.R207G|KIF13A_ENST00000378826.2_Missense_Mutation_p.R207G|KIF13A_ENST00000378843.2_Missense_Mutation_p.R207G|KIF13A_ENST00000378814.5_Missense_Mutation_p.R207G	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	207	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R207G(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTACCGTTCGAGACTTATTT	0.453																																																2	Substitution - Missense(2)	kidney(2)											101	99	99					6																	17850652		1934	4122	6056	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.619C>G	6.37:g.17850652G>C	ENSP00000259711:p.Arg207Gly		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988485	0.93106	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.78	5.78	0.91487	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	H	0.99626	4.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97614	1.0131	10	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	207;207;207;207	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	G	207	ENSP00000368091:R207G;ENSP00000259711:R207G;ENSP00000368103:R207G;ENSP00000368120:R207G;ENSP00000368093:R207G	ENSP00000259711:R207G	R	-	1	2	KIF13A	17958631	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.238000	0.72350	2.724000	0.93272	0.563000	0.77884	CGA		0.453	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			C	17850652	G	C	17850652	3	2	382	1	0	0	0	0	1	0	0	0	8276	1066	37	4	4951	4	KIF13A	6	17850652	Missense_Mutation	SNP	G	TCGA-BP-4967-01A-01D-1462-08		17850652	153264415	25	21223											
DOM3Z	1797	broad.mit.edu;hgsc.bcm.edu	37	6	31939426	31939426	+	Silent	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:31939426T>C	ENST00000375349.3	-	2	438	c.27A>G	c.(25-27)ggA>ggG	p.G9G	STK19_ENST00000375331.2_5'Flank|DXO_ENST00000337523.5_Silent_p.G9G|STK19_ENST00000375333.2_5'Flank|DXO_ENST00000478221.1_Intron|DXO_ENST00000375356.3_Silent_p.G9G			O77932	DXO_HUMAN	decapping exoribonuclease	9					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)	p.G9G(1)									TCTTCTCAGCTCCTCTCTTGG	0.552																																																1	Substitution - coding silent(1)	kidney(1)											68	78	74					6																	31939426		2203	4300	6503	SO:0001819	synonymous_variant	1797			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"DOM-3 (C. elegans) homolog Z", "dom-3 homolog Z (C. elegans)"	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.27A>G	6.37:g.31939426T>C			A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Silent	SNP	ENST00000375349.3	37	CCDS4732.1																																																																																				0.552	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3			C	31939426	T	C	31939426	2	2	382	1	0	0	0	0	0	0	0	1	4707	1538	54	3		3	DOM3Z	6	31939426	Silent	SNP	T	TCGA-BP-4967-01A-01D-1462-08	14088774	31939426	139175641	26	21224											
SPDEF	25803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	34506194	34506194	+	Missense_Mutation	SNP	G	G	A	rs148079586		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:34506194G>A	ENST00000374037.3	-	6	1279	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	SPDEF_ENST00000544425.1_Missense_Mutation_p.R273W	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	289					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R289W(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCCCACAGCCGGGCCACCTGG	0.582																																																1	Substitution - Missense(1)	kidney(1)						G	TRP/ARG	0,4406		0,0,2203	98	101	100		865	4.7	1	6	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPDEF	NM_012391.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	289/336	34506194	1,13005	2203	4300	6503	SO:0001583	missense	25803			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.865C>T	6.37:g.34506194G>A	ENSP00000363149:p.Arg289Trp		B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588852	0.86851	0.0	1.16E-4	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.29397	1.57;1.57	5.55	4.68	0.58851	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.057709	0.64402	N	0.000002	T	0.51958	0.1705	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63786	-0.6558	10	0.87932	D	0	.	14.2349	0.65919	0.0716:0.0:0.9283:0.0	.	273;289	F5H778;O95238	.;SPDEF_HUMAN	W	289;273	ENSP00000363149:R289W;ENSP00000442715:R273W	ENSP00000363149:R289W	R	-	1	2	SPDEF	34614172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.123000	0.64703	1.348000	0.45733	0.655000	0.94253	CGG		0.582	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		A	34506194	G	A	34506194	3	1	382	1	0	0	0	0	1	0	0	0	15031	1115	39	1	146	1	SPDEF	6	34506194	Missense_Mutation	SNP	G	TCGA-BP-4967-01A-01D-1462-08	2566768	34506194	136608873	27	21225											
C6orf89	221477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36882108	36882108	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:36882108C>A	ENST00000480824.2	+	5	746	c.452C>A	c.(451-453)cCc>cAc	p.P151H	C6orf89_ENST00000373685.1_Missense_Mutation_p.P151H|C6orf89_ENST00000355190.3_Missense_Mutation_p.P158H|C6orf89_ENST00000359359.2_Missense_Mutation_p.P45H|C6orf89_ENST00000510325.2_Missense_Mutation_p.P45H			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	151					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P158H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GAGTCAGAGCCCATTCCTGCC	0.517																																																1	Substitution - Missense(1)	kidney(1)											69	71	71					6																	36882108		2203	4300	6503	SO:0001583	missense	221477			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.452C>A	6.37:g.36882108C>A	ENSP00000475947:p.Pro151His		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37		.	.	.	.	.	.	.	.	.	.	C	15.32	2.799336	0.50208	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	.	.	.	5.44	2.64	0.31445	.	0.301023	0.24388	N	0.038951	T	0.15003	0.0362	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.25641	-1.0126	9	0.56958	D	0.05	-0.2988	5.0043	0.14280	0.1662:0.658:0.0:0.1758	.	151;158	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	H	45;45;158;151;158;157	.	ENSP00000347322:P158H	P	+	2	0	C6orf89	36990086	0.091000	0.21658	0.131000	0.22000	0.587000	0.36485	0.444000	0.21661	0.250000	0.21479	0.655000	0.94253	CCC		0.517	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		A	36882108	C	A	36882108	3	1	382	1	0	0	0	0	1	0	0	0	2375	623	22	4	487	4	C6orf89	6	36882108	Missense_Mutation	SNP	C	TCGA-BP-4967-01A-01D-1462-08	2375914	36882108	134232959	28	21226											
FAM135A	57579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	71185175	71185175	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:71185175A>G	ENST00000418814.2	+	6	834	c.220A>G	c.(220-222)Att>Gtt	p.I74V	FAM135A_ENST00000370479.3_Missense_Mutation_p.I31V|FAM135A_ENST00000505769.1_Missense_Mutation_p.I74V|FAM135A_ENST00000361499.3_Missense_Mutation_p.I74V|FAM135A_ENST00000457062.2_Missense_Mutation_p.I31V|FAM135A_ENST00000505868.1_Missense_Mutation_p.I74V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	74								p.I74V(1)|p.I31V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AACATTTCAAATTTTGTACAA	0.279																																																2	Substitution - Missense(2)	kidney(2)											42	44	43					6																	71185175		2192	4265	6457	SO:0001583	missense	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.220A>G	6.37:g.71185175A>G	ENSP00000410768:p.Ile74Val		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409380	0.83340	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T;T	0.78364	-1.17;1.46;-1.17;-1.17;1.46;-1.17;-1.17	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.69358	2.11	0.42057	D	0.991142	D;P;D;D	0.67145	0.996;0.93;0.996;0.996	D;D;D;D	0.79108	0.992;0.919;0.99;0.99	D	0.84257	0.0481	10	0.46703	T	0.11	.	15.5385	0.76021	1.0:0.0:0.0:0.0	.	74;74;74;31	D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	V	74;31;74;74;31;74;74	ENSP00000410768:I74V;ENSP00000359510:I31V;ENSP00000423785:I74V;ENSP00000422406:I74V;ENSP00000409201:I31V;ENSP00000354913:I74V;ENSP00000423307:I74V	ENSP00000194672:I74V	I	+	1	0	FAM135A	71241896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	2.141000	0.66446	0.455000	0.32223	ATT		0.279	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		G	71185175	A	G	71185175	3	3	382	1	0	0	0	0	1	0	0	0	5450	101	4	3	230	3	FAM135A	6	71185175	Missense_Mutation	SNP	A	TCGA-BP-4967-01A-01D-1462-08	34303067	71185175	99929892	29	21227											
MDN1	23195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90399594	90399595	+	Frame_Shift_Ins	INS	-	-	G	rs373904969		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:90399594_90399595insG	ENST00000369393.3	-	65	11132_11133	c.11017_11018insC	c.(11017-11019)ctgfs	p.L3673fs	MDN1_ENST00000428876.1_Frame_Shift_Ins_p.L3673fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3673					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATACCCATCAGGGGGTAGAAG	0.45																																																0																																										SO:0001589	frameshift_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11018dupC	6.37:g.90399599_90399599dupG	ENSP00000358400:p.Leu3673fs		O15019|Q5T794	Frame_Shift_Ins	INS	ENST00000369393.3	37	CCDS5024.1																																																																																				0.45	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			G	90399595	-	G	90399594	7	5	382	1	0	1	1	0	0	0	0	0	9417	188	7	0	5924	0	MDN1	6	90399594	Frame_Shift_Ins	INS	-	TCGA-BP-4967-01A-01D-1462-08	19214419	90399594	80715473	30	21228											
FSCN1	6624	broad.mit.edu;hgsc.bcm.edu	37	7	5632985	5632985	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr7:5632985C>T	ENST00000382361.3	+	1	532	c.418C>T	c.(418-420)Cct>Tct	p.P140S	FSCN1_ENST00000340250.6_Missense_Mutation_p.P119S	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	140					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)	p.P140S(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGCCATGCACCCTCAGGTCAA	0.706																																																1	Substitution - Missense(1)	kidney(1)											42	34	37					7																	5632985		2202	4298	6500	SO:0001583	missense	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.418C>T	7.37:g.5632985C>T	ENSP00000371798:p.Pro140Ser		A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545806	0.86022	.	.	ENSG00000075618	ENST00000340250;ENST00000382361	T;T	0.42513	0.97;0.97	3.9	2.93	0.34026	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72693	-0.4216	10	0.87932	D	0	0.183	11.4937	0.50396	0.0:0.8167:0.1833:0.0	.	140	Q16658	FSCN1_HUMAN	S	119;140	ENSP00000339729:P119S;ENSP00000371798:P140S	ENSP00000339729:P119S	P	+	1	0	FSCN1	5599511	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.544000	0.60691	1.729000	0.51567	0.462000	0.41574	CCT		0.706	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		T	5632985	C	T	5632985	3	4	382	1	0	0	0	0	1	0	0	0	6069	623	22	2	420	2	FSCN1	7	5632985	Missense_Mutation	SNP	C	TCGA-BP-4967-01A-01D-1462-08		5632985	153505678	31	21229											
CFTR	1080	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117232369	117232369	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr7:117232369G>T	ENST00000003084.6	+	14	2280	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N	CFTR_ENST00000454343.1_Missense_Mutation_p.K655N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	716					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.K716N(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TTGTGCAAAAGACTCCCTTAC	0.398									Cystic Fibrosis																																							1	Substitution - Missense(1)	kidney(1)											50	49	49					7																	117232369		2203	4300	6503	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2148G>T	7.37:g.117232369G>T	ENSP00000003084:p.Lys716Asn		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	9.455	1.091676	0.20471	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.95412	-3.7;-3.7;-3.7	5.52	2.65	0.31530	.	0.236907	0.48767	D	0.000161	D	0.93848	0.8032	M	0.79805	2.47	0.39472	D	0.967737	B	0.20368	0.044	B	0.24006	0.05	D	0.88890	0.3345	10	0.33940	T	0.23	-19.3071	8.2149	0.31505	0.3947:0.0:0.6053:0.0	.	716	P13569	CFTR_HUMAN	N	716;655;686	ENSP00000003084:K716N;ENSP00000403677:K655N;ENSP00000389119:K686N	ENSP00000003084:K716N	K	+	3	2	CFTR	117019605	0.975000	0.34042	0.755000	0.31263	0.541000	0.35023	1.561000	0.36342	0.336000	0.23639	-0.251000	0.11542	AAG		0.398	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		T	117232369	G	T	117232369	3	4	382	1	0	0	0	0	1	0	0	0	3296	933	33	4	2202	4	CFTR	7	117232369	Missense_Mutation	SNP	G	TCGA-BP-4967-01A-01D-1462-08	111599384	117232369	41906294	32	21230											
ASAH1	427	hgsc.bcm.edu	37	8	17942197	17942203	+	5'Flank	DEL	AGCAAAG	AGCAAAG	-	rs548868946	byFrequency	TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	AGCAAAG	AGCAAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr8:17942197_17942203delAGCAAAG	ENST00000262097.6	-	0	0				CTD-2547L16.1_ENST00000521775.1_RNA|CTD-2547L16.1_ENST00000499554.2_RNA|ASAH1_ENST00000520051.1_5'UTR|CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000517747.1_RNA|ASAH1_ENST00000417108.2_5'Flank|CTD-2547L16.1_ENST00000505114.2_RNA|ASAH1_ENST00000314146.10_Frame_Shift_Del_p.SFA36fs|ASAH1_ENST00000381733.4_Frame_Shift_Del_p.SFA36fs|ASAH1_ENST00000520781.1_5'Flank	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1						cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		GGGCTTTCACAGCAAAGCTGCCAAATC	0.594											OREG0018581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6	0.00119808	0.0038	0.0014	5008	,	,		17900	0.0		0.0	False		,,,				2504	0.0															0									,	16,4248		0,16,2116					,	1.1	0			49	0,8254		0,0,4127	no	frameshift,frameshift	ASAH1	NM_004315.4,NM_001127505.1	,	0,16,6243	A1A1,A1R,RR		0.0,0.3752,0.1278	,	,		16,12502				SO:0001631	upstream_gene_variant	427			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"N-acylsphingosine amidohydrolase (acid ceramidase)"	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997		8.37:g.17942197_17942203delAGCAAAG	Exception_encountered	721	E9PDS0|Q6W898|Q96AS2	Frame_Shift_Del	DEL	ENST00000262097.6	37	CCDS6006.1																																																																																				0.594	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		-	17942203	AGCAAAG	-	17942197	6	5	382	0	1	1	0	1	0	0	0	0	1006	175	7	0		0	ASAH1	8	17942197	5'Flank	DEL	AGCAAAG	TCGA-BP-4967-01A-01D-1462-08		17942197	128421825	33	21231											
CYP7A1	1581	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	59404310	59404310	+	Silent	SNP	A	A	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr8:59404310A>C	ENST00000301645.3	-	6	1376	c.1239T>G	c.(1237-1239)ctT>ctG	p.L413L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	413					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.L413L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CGTTTTCATCAAGATACCTAT	0.348									Neonatal Giant Cell Hepatitis																																							1	Substitution - coding silent(1)	kidney(1)	GRCh37	CD021814	CYP7A1	D							82	92	88					8																	59404310		2203	4300	6503	SO:0001819	synonymous_variant	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1239T>G	8.37:g.59404310A>C			P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	CCDS6171.1																																																																																				0.348	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		C	59404310	A	C	59404310	2	2	382	1	0	0	0	0	0	0	0	1	4198	117	5	5		5	CYP7A1	8	59404310	Silent	SNP	A	TCGA-BP-4967-01A-01D-1462-08	41462113	59404310	86959712	34	21232											
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106813474	106813474	+	Silent	SNP	C	C	T	rs376392532		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr8:106813474C>T	ENST00000407775.2	+	8	1414	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	ZFPM2_ENST00000517361.1_Silent_p.S256S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.S119S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.S256S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	388					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S388S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATGTCCCTAGCGGCAAACTTC	0.517																																																1	Substitution - coding silent(1)	kidney(1)						C		0,3974		0,0,1987	124	120	122		1164	-4	0.1	8		122	1,8359		0,1,4179	no	coding-synonymous	ZFPM2	NM_012082.3		0,1,6166	TT,TC,CC		0.012,0.0,0.0081		388/1152	106813474	1,12333	1987	4180	6167	SO:0001819	synonymous_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1164C>T	8.37:g.106813474C>T			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																				0.517	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			T	106813474	C	T	106813474	2	4	382	1	0	0	0	0	0	0	0	1	17663	767	27	1		1	ZFPM2	8	106813474	Silent	SNP	C	TCGA-BP-4967-01A-01D-1462-08	47409164	106813474	39550548	35	21233											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113277723	113277723	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr8:113277723C>T	ENST00000297405.5	-	60	9849	c.9605G>A	c.(9604-9606)gGc>gAc	p.G3202D	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3033D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3162D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3132D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3202	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3202D(1)|p.G3162D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATCGTGTAGCCTGGCTGGCA	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - Missense(2)	kidney(2)											203	170	181					8																	113277723		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9605G>A	8.37:g.113277723C>T	ENSP00000297405:p.Gly3202Asp		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074140	0.94000	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.44	5.44	0.79542	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.91835	0.7416	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.947	D	0.93262	0.6644	10	0.62326	D	0.03	.	19.6111	0.95607	0.0:1.0:0.0:0.0	.	3033;3202;3162	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	3162;3202;2472;3033;3132	ENSP00000345799:G3162D;ENSP00000297405:G3202D;ENSP00000341558:G2472D;ENSP00000412263:G3033D;ENSP00000343124:G3132D	ENSP00000297405:G3202D	G	-	2	0	CSMD3	113346899	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.714000	0.92807	0.585000	0.79938	GGC		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113277723	C	T	113277723	3	4	382	1	0	0	0	0	1	0	0	0	3948	739	26	2	1566	2	CSMD3	8	113277723	Missense_Mutation	SNP	C	TCGA-BP-4967-01A-01D-1462-08	6464249	113277723	33086299	36	21234											
PTPDC1	138639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	96870182	96870183	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr9:96870182_96870183insA	ENST00000375360.3	+	10	2561_2562	c.2221_2222insA	c.(2221-2223)gaafs	p.E741fs	PTPDC1_ENST00000288976.3_Frame_Shift_Ins_p.E793fs|PTPDC1_ENST00000467049.1_3'UTR	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	741					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CACGCTGGAAGAAAAAAGAAAA	0.366																																																0																																										SO:0001589	frameshift_variant	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.2227dupA	9.37:g.96870188_96870188dupA	ENSP00000364509:p.Glu741fs		Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Frame_Shift_Ins	INS	ENST00000375360.3	37	CCDS6707.1																																																																																				0.366	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		A	96870183	-	A	96870182	7	5	382	1	0	1	1	0	0	0	0	0	12779	943	33	0	2497	0	PTPDC1	9	96870182	Frame_Shift_Ins	INS	-	TCGA-BP-4967-01A-01D-1462-08		96870182	44343249	37	21235											
HK1	3098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	71103744	71103744	+	Splice_Site	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr10:71103744T>C	ENST00000359426.6	+	2	329	c.225T>C	c.(223-225)tcT>tcC	p.S75S	HK1_ENST00000360289.2_Splice_Site_p.S63S|HK1_ENST00000298649.3_Splice_Site_p.S74S|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000448642.2_Splice_Site_p.S110S|HK1_ENST00000404387.2_Splice_Site_p.S79S	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	75	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.S79S(1)|p.S74S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTGATGGCTCTGGTAAGTCTG	0.438																																																2	Substitution - coding silent(2)	kidney(2)											78	70	73					10																	71103744		2203	4300	6503	SO:0001630	splice_region_variant	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.226+1T>C	10.37:g.71103744T>C			E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	37	CCDS7292.1																																																																																				0.438	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188	Silent	C	71103744	T	C	71103744	5	2	382	1	0	0	0	0	0	0	1	0	7192	1594	55	3	409	3	HK1	10	71103744	Splice_Site	SNP	T	TCGA-BP-4967-01A-01D-1462-08		71103744	64431003	38	21236											
MGEA5	10724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103557823	103557823	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr10:103557823T>C	ENST00000361464.3	-	10	2293	c.1898A>G	c.(1897-1899)aAc>aGc	p.N633S	MGEA5_ENST00000357797.5_Missense_Mutation_p.N580S|MGEA5_ENST00000439817.1_Missense_Mutation_p.N580S|MGEA5_ENST00000370094.3_Missense_Mutation_p.N633S|MGEA5_ENST00000482611.1_5'UTR	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	633					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)	p.N633S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		AATTGTCCTGTTGGCACAATT	0.433																																																1	Substitution - Missense(1)	kidney(1)											141	126	131					10																	103557823		2203	4300	6503	SO:0001583	missense	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1898A>G	10.37:g.103557823T>C	ENSP00000354850:p.Asn633Ser		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418768	0.83559	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	T;T;T;T	0.46451	0.98;0.98;0.93;0.87	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.965;0.989;0.993;0.983	T	0.65319	-0.6197	10	0.49607	T	0.09	-16.5558	16.0674	0.80893	0.0:0.0:0.0:1.0	.	580;580;633;633	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	S	580;633;580;633	ENSP00000409973:N580S;ENSP00000354850:N633S;ENSP00000350445:N580S;ENSP00000359112:N633S	ENSP00000350445:N580S	N	-	2	0	MGEA5	103547813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.197000	0.70478	0.533000	0.62120	AAC		0.433	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		C	103557823	T	C	103557823	3	2	382	1	0	0	0	0	1	0	0	0	9557	1725	60	3	880	3	MGEA5	10	103557823	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08	32454079	103557823	31976924	39	21237											
ST5	6764	broad.mit.edu	37	11	8752274	8752274	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr11:8752274C>A	ENST00000534127.1	-	6	948	c.563G>T	c.(562-564)cGg>cTg	p.R188L	ST5_ENST00000357665.1_Missense_Mutation_p.R188L|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R188L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	188					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R188L(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGAGCCCTCCCGCTTCTCTCC	0.662																																																1	Substitution - Missense(1)	kidney(1)											19	19	19					11																	8752274		2187	4270	6457	SO:0001583	missense	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.563G>T	11.37:g.8752274C>A	ENSP00000433528:p.Arg188Leu		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618681	0.46736	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.22945	1.93;1.93;1.93	6.03	4.13	0.48395	.	0.490954	0.22425	N	0.060237	T	0.22627	0.0546	L	0.43152	1.355	0.51012	D	0.999908	B	0.06786	0.001	B	0.09377	0.004	T	0.02661	-1.1127	10	0.25751	T	0.34	-3.0295	13.4537	0.61187	0.126:0.7531:0.1209:0.0	.	188	P78524	ST5_HUMAN	L	188	ENSP00000433528:R188L;ENSP00000319678:R188L;ENSP00000350294:R188L	ENSP00000319678:R188L	R	-	2	0	ST5	8708850	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.252000	0.58785	0.849000	0.35215	-0.150000	0.13652	CGG		0.662	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		A	8752274	C	A	8752274	3	1	382	1	0	0	0	0	1	0	0	0	15225	652	23	4	2922	4	ST5	11	8752274	Missense_Mutation	SNP	C	TCGA-BP-4967-01A-01D-1462-08		8752274	126254242	40	21238											
PZP	5858	hgsc.bcm.edu	37	12	9305862	9305862	+	Silent	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr12:9305862G>T	ENST00000261336.2	-	30	3880	c.3852C>A	c.(3850-3852)gtC>gtA	p.V1284V	PZP_ENST00000381997.2_Silent_p.V1070V	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1284					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1070V(1)|p.V1284V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTGAACGGTGACCTGTGCAG	0.498																																					Melanoma(125;1402 1695 4685 34487 38571)											2	Substitution - coding silent(2)	kidney(2)											109	110	110					12																	9305862		2203	4300	6503	SO:0001819	synonymous_variant	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3852C>A	12.37:g.9305862G>T			A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.498	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		T	9305862	G	T	9305862	2	4	382	1	0	0	0	0	0	0	0	1	12875	1277	45	4		4	PZP	12	9305862	Silent	SNP	G	TCGA-BP-4967-01A-01D-1462-08		9305862	124546033	41	21239											
ATF7IP	55729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14613557	14613557	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr12:14613557G>C	ENST00000540793.1	+	8	2442	c.2287G>C	c.(2287-2289)Gct>Cct	p.A763P	ATF7IP_ENST00000536444.1_Missense_Mutation_p.A762P|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.A762P|ATF7IP_ENST00000544627.1_Missense_Mutation_p.A771P|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A763P			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	763	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.A763P(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TACTGTAGTTGCTACTACTCA	0.488																																																1	Substitution - Missense(1)	kidney(1)											135	132	133					12																	14613557		2203	4300	6503	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2287G>C	12.37:g.14613557G>C	ENSP00000444589:p.Ala763Pro		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099392	0.76983	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.22336	1.97;2.01;1.96;1.96;1.97	6.02	4.21	0.49690	.	0.369511	0.26334	N	0.024965	T	0.37376	0.1001	L	0.56769	1.78	0.40173	D	0.977208	D;D;D;D	0.61080	0.98;0.98;0.989;0.989	P;P;P;P	0.61201	0.837;0.837;0.885;0.885	T	0.08806	-1.0704	9	.	.	.	-8.0887	12.6202	0.56600	0.1328:0.0:0.8672:0.0	.	762;763;762;374	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	P	763;762;762;771;763	ENSP00000261168:A763P;ENSP00000443179:A762P;ENSP00000445955:A762P;ENSP00000440440:A771P;ENSP00000444589:A763P	.	A	+	1	0	ATF7IP	14504824	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	4.049000	0.57397	0.890000	0.36211	-0.145000	0.13849	GCT		0.488	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		C	14613557	G	C	14613557	3	2	382	1	0	0	0	0	1	0	0	0	1087	1319	46	4	2317	4	ATF7IP	12	14613557	Missense_Mutation	SNP	G	TCGA-BP-4967-01A-01D-1462-08	5307695	14613557	119238338	42	21240											
NELL2	4753	broad.mit.edu;hgsc.bcm.edu	37	12	44917251	44917251	+	Silent	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr12:44917251C>T	ENST00000429094.2	-	17	2325	c.1821G>A	c.(1819-1821)ggG>ggA	p.G607G	NELL2_ENST00000437801.2_Silent_p.G657G|NELL2_ENST00000395487.2_Silent_p.G606G|NELL2_ENST00000551601.1_Silent_p.G559G|NELL2_ENST00000333837.4_Silent_p.G630G|NELL2_ENST00000549027.1_Silent_p.G606G|NELL2_ENST00000452445.2_Silent_p.G607G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	607	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G607G(1)|p.G657G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCCTCCCGGTCCCACACTCAT	0.453																																																2	Substitution - coding silent(2)	kidney(2)											77	73	74					12																	44917251		2203	4300	6503	SO:0001819	synonymous_variant	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1821G>A	12.37:g.44917251C>T			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	9.442	1.088343	0.20390	.	.	ENSG00000184613	ENST00000550139	.	.	.	5.46	2.18	0.27775	.	.	.	.	.	T	0.44498	0.1296	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28170	-1.0052	4	.	.	.	-13.819	2.7562	0.05293	0.2694:0.3827:0.2489:0.099	.	.	.	.	N	20	.	.	D	-	1	0	NELL2	43203518	0.956000	0.32656	1.000000	0.80357	0.998000	0.95712	0.157000	0.16402	0.616000	0.30141	0.643000	0.83706	GAC		0.453	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		T	44917251	C	T	44917251	2	4	382	1	0	0	0	0	0	0	0	1	10336	842	30	2		2	NELL2	12	44917251	Silent	SNP	C	TCGA-BP-4967-01A-01D-1462-08	30303694	44917251	88934644	43	21241											
MLL2	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49425039	49425039	+	Silent	SNP	C	C	T	rs376096667		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr12:49425039C>T	ENST00000301067.7	-	39	13448	c.13449G>A	c.(13447-13449)ctG>ctA	p.L4483L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4483					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L4483L(1)|p.L4213L(1)									TCTCAGCTCGCAGCCCCTCGG	0.597																																																2	Substitution - coding silent(2)	kidney(2)											81	88	86					12																	49425039		2068	4204	6272	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13449G>A	12.37:g.49425039C>T			O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49425039	C	T	49425039	2	4	382	1	0	0	0	0	0	0	0	1	9623	697	25	2		2	MLL2	12	49425039	Silent	SNP	C	TCGA-BP-4967-01A-01D-1462-08	4507788	49425039	84426856	44	21242											
KRT4	3851	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53207945	53207945	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr12:53207945G>T	ENST00000551956.1	-	0	390				KRT4_ENST00000458244.2_5'Flank|KRT4_ENST00000293774.4_Silent_p.P40P			P19013	K2C4_HUMAN	keratin 4						cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.P40P(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TGGAGCAGCAGGGCTTGGTTG	0.572																																					Pancreas(190;284 2995 41444 45903)											1	Substitution - coding silent(1)	kidney(1)											37	42	40					12																	53207945		1948	4154	6102			3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.-103C>A	12.37:g.53207945G>T			F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																				0.572	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		T	53207945	G	T	53207945	1	4	382	1	0	1	0	0	0	0	0	0	8479	987	35	4		4	KRT4	12	53207945	De_novo_Start_OutOfFrame	SNP	G	TCGA-BP-4967-01A-01D-1462-08	3782906	53207945	80643950	45	21243											
DACH1	1602	broad.mit.edu	37	13	72204836	72204836	+	Silent	SNP	G	G	A	rs539979201		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr13:72204836G>A	ENST00000359684.2	-	3	983	c.984C>T	c.(982-984)gcC>gcT	p.A328A	DACH1_ENST00000305425.4_Silent_p.A328A|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Silent_p.A328A			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	328	Interaction with SIX6 and HDAC3. {ECO:0000250}.|Poly-Ala.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.A328A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ctgctgcagcggctgcTGTCA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17120	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											84	76	78					13																	72204836		1807	4061	5868	SO:0001819	synonymous_variant	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.984C>T	13.37:g.72204836G>A			D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37																																																																																					0.363	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		A	72204836	G	A	72204836	2	1	382	1	0	0	0	0	0	0	0	1	4222	1103	39	1		1	DACH1	13	72204836	Silent	SNP	G	TCGA-BP-4967-01A-01D-1462-08		72204836	42965042	46	21244											
ZIC5	85416	broad.mit.edu;hgsc.bcm.edu	37	13	100622569	100622569	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr13:100622569T>C	ENST00000267294.4	-	1	1594	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	454					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E454G(1)		endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTGCTCTGCTCGGGGCCTCC	0.657																																																1	Substitution - Missense(1)	kidney(1)											86	80	82					13																	100622569		2203	4300	6503	SO:0001583	missense	85416			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1361A>G	13.37:g.100622569T>C	ENSP00000267294:p.Glu454Gly		Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	T	23.5	4.417781	0.83449	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.37411	1.2	4.44	4.44	0.53790	.	.	.	.	.	T	0.59636	0.2208	M	0.79258	2.445	0.80722	D	1	D	0.65815	0.995	D	0.79108	0.992	T	0.64871	-0.6305	9	0.72032	D	0.01	.	12.6617	0.56817	0.0:0.0:0.0:1.0	.	454	Q96T25	ZIC5_HUMAN	G	92;454	ENSP00000267294:E454G	ENSP00000267294:E454G	E	-	2	0	ZIC5	99420570	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.055000	0.71103	1.604000	0.50143	0.260000	0.18958	GAG		0.657	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		C	100622569	T	C	100622569	3	2	382	1	0	0	0	0	1	0	0	0	17687	1551	54	3	638	3	ZIC5	13	100622569	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08	28417733	100622569	14547309	47	21245											
RNASE8	122665	broad.mit.edu;ucsc.edu	37	14	21526326	21526326	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr14:21526326G>T	ENST00000308227.2	+	1	346	c.275G>T	c.(274-276)aGc>aTc	p.S92I	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	92					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)	p.S92I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		TGCAAGAATAGCTGTAAAAAC	0.552																																																1	Substitution - Missense(1)	kidney(1)											140	127	131					14																	21526326		2203	4300	6503	SO:0001583	missense	122665			AF473854	CCDS9567.1	14q11.1	2003-03-13			ENSG00000173431	ENSG00000173431		"Ribonucleases, RNase A"	19277	protein-coding gene	gene with protein product		612485				11861908	Standard	NM_138331		Approved		uc010tlm.2	Q8TDE3	OTTHUMG00000029645	ENST00000308227.2:c.275G>T	14.37:g.21526326G>T	ENSP00000311398:p.Ser92Ile		B2RPP6|B2RPP7	Missense_Mutation	SNP	ENST00000308227.2	37	CCDS9567.1	.	.	.	.	.	.	.	.	.	.	G	9.806	1.181896	0.21787	.	.	ENSG00000173431	ENST00000308227	T	0.15017	2.46	4.61	1.67	0.24075	Ribonuclease A, domain (4);	2.121860	0.02047	N	0.049746	T	0.20129	0.0484	N	0.24115	0.695	0.09310	N	1	B	0.23854	0.092	B	0.40038	0.317	T	0.45071	-0.9286	10	0.87932	D	0	-2.2107	6.4566	0.21934	0.3275:0.0:0.6725:0.0	.	92	Q8TDE3	RNAS8_HUMAN	I	92	ENSP00000311398:S92I	ENSP00000311398:S92I	S	+	2	0	RNASE8	20596166	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	1.139000	0.31504	0.233000	0.21120	0.655000	0.94253	AGC		0.552	RNASE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073925.3	NM_138331		T	21526326	G	T	21526326	3	4	382	1	0	0	0	0	1	0	0	0	13415	971	34	4	277	4	RNASE8	14	21526326	Missense_Mutation	SNP	G	TCGA-BP-4967-01A-01D-1462-08		21526326	85823214	48	21246											
MTHFD1	4522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64855180	64855180	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr14:64855180T>A	ENST00000545908.1	+	1	432	c.203T>A	c.(202-204)aTc>aAc	p.I68N	MTHFD1_ENST00000216605.8_Missense_Mutation_p.I12N			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	12	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.I12N(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGGAAGGAGATCTCCGCGTAA	0.592																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											1	Substitution - Missense(1)	kidney(1)											155	127	137					14																	64855180		2203	4300	6503	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.203T>A	14.37:g.64855180T>A	ENSP00000438588:p.Ile68Asn		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	T	20.9	4.071691	0.76301	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.26660	2.55;2.57;2.56;1.72	5.25	4.09	0.47781	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.273631	0.36555	N	0.002521	T	0.46833	0.1413	M	0.90369	3.11	0.35829	D	0.825175	P;B;B	0.46621	0.881;0.308;0.421	P;P;B	0.53490	0.727;0.66;0.361	T	0.61515	-0.7047	10	0.87932	D	0	-10.8187	7.3173	0.26507	0.0:0.1033:0.0:0.8967	.	68;12;12	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	N	68;12;68;12	ENSP00000438588:I68N;ENSP00000450560:I12N;ENSP00000216605:I68N;ENSP00000451309:I12N	ENSP00000216605:I12N	I	+	2	0	MTHFD1	63924933	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.876000	0.39588	1.093000	0.41377	0.533000	0.62120	ATC		0.592	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			A	64855180	T	A	64855180	3	1	382	1	0	0	0	0	1	0	0	0	9929	1435	50	5	37	5	MTHFD1	14	64855180	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08	43328854	64855180	42494360	49	21247											
ZDHHC22	283576	broad.mit.edu;hgsc.bcm.edu	37	14	77600035	77600035	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr14:77600035C>G	ENST00000319374.4	-	3	985	c.783G>C	c.(781-783)caG>caC	p.Q261H	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	261					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Q261H(2)		kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		ACTACTTATCCTGCTGCTTGG	0.527																																																2	Substitution - Missense(2)	kidney(2)											48	50	49					14																	77600035		2054	4230	6284	SO:0001583	missense	283576			AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"Zinc fingers, DHHC-type"	20106	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 59"	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.783G>C	14.37:g.77600035C>G	ENSP00000318222:p.Gln261His		A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	37	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902270	0.33628	.	.	ENSG00000177108	ENST00000319374	T	0.55588	0.51	5.27	2.45	0.29901	.	.	.	.	.	T	0.26593	0.0650	N	0.08118	0	0.27027	N	0.964322	B	0.02656	0.0	B	0.01281	0.0	T	0.14811	-1.0459	9	0.42905	T	0.14	.	1.3516	0.02174	0.2106:0.4258:0.2054:0.1582	.	261	Q8N966	ZDH22_HUMAN	H	261	ENSP00000318222:Q261H	ENSP00000318222:Q261H	Q	-	3	2	ZDHHC22	76669788	0.756000	0.28383	0.979000	0.43373	0.941000	0.58515	0.812000	0.27211	0.596000	0.29794	0.561000	0.74099	CAG		0.527	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	NM_174976		G	77600035	C	G	77600035	3	3	382	1	0	0	0	0	1	0	0	0	17618	680	24	4	12	4	ZDHHC22	14	77600035	Missense_Mutation	SNP	C	TCGA-BP-4967-01A-01D-1462-08	12744855	77600035	29749505	50	21248											
CYP46A1	10858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	100166423	100166423	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr14:100166423T>C	ENST00000261835.3	+	5	532	c.428T>C	c.(427-429)cTg>cCg	p.L143P	CYP46A1_ENST00000423126.2_Missense_Mutation_p.L46P	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	143					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.L143P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GTCATAGACCTGGCCTTCAGC	0.622																																																1	Substitution - Missense(1)	kidney(1)											68	59	62					14																	100166423		2203	4300	6503	SO:0001583	missense	10858			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.428T>C	14.37:g.100166423T>C	ENSP00000261835:p.Leu143Pro		B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741716	0.30865	.	.	ENSG00000036530	ENST00000261835;ENST00000423126	T;T	0.75154	0.0;-0.91	4.84	3.71	0.42584	.	0.062208	0.64402	D	0.000004	T	0.27832	0.0685	N	0.00155	-1.965	0.50813	D	0.999897	B;B	0.30511	0.0;0.282	B;B	0.28011	0.001;0.085	T	0.54050	-0.8351	10	0.02654	T	1	.	6.438	0.21835	0.0:0.1062:0.0:0.8938	.	143;114	Q9Y6A2;Q59ER2	CP46A_HUMAN;.	P	143;46	ENSP00000261835:L143P;ENSP00000405779:L46P	ENSP00000261835:L143P	L	+	2	0	CYP46A1	99236176	0.991000	0.36638	0.996000	0.52242	0.969000	0.65631	1.557000	0.36299	2.116000	0.64780	0.533000	0.62120	CTG		0.622	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			C	100166423	T	C	100166423	3	2	382	1	0	0	0	0	1	0	0	0	4184	1580	55	3	446	3	CYP46A1	14	100166423	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08	22566388	100166423	7183117	51	21249											
USP8	9101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50763851	50763851	+	Silent	SNP	A	A	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr15:50763851A>G	ENST00000396444.3	+	8	1046	c.708A>G	c.(706-708)gaA>gaG	p.E236E	USP8_ENST00000425032.3_Silent_p.E159E|USP8_ENST00000307179.4_Silent_p.E236E|USP8_ENST00000433963.1_Silent_p.E236E	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	236	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.E236E(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GTTGGATTGAAGCACACCTGC	0.388																																																1	Substitution - coding silent(1)	kidney(1)											129	114	119					15																	50763851		2196	4294	6490	SO:0001819	synonymous_variant	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.708A>G	15.37:g.50763851A>G			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	CCDS10137.1																																																																																				0.388	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		G	50763851	A	G	50763851	2	3	382	1	0	0	0	0	0	0	0	1	17094	69	3	3		3	USP8	15	50763851	Silent	SNP	A	TCGA-BP-4967-01A-01D-1462-08		50763851	51767541	52	21250											
MYO1E	4643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59470597	59470597	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr15:59470597C>G	ENST00000288235.4	-	19	2443	c.2044G>C	c.(2044-2046)Gag>Cag	p.E682Q		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	682	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.E682Q(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTCACAGACTCGGGGGCTTTG	0.612																																																1	Substitution - Missense(1)	kidney(1)											96	79	84					15																	59470597		2191	4291	6482	SO:0001583	missense	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.2044G>C	15.37:g.59470597C>G	ENSP00000288235:p.Glu682Gln		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240223	0.79912	.	.	ENSG00000157483	ENST00000288235	D	0.95377	-3.69	4.94	4.94	0.65067	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.97173	0.9076	M	0.76433	2.335	0.80722	D	1	D	0.62365	0.991	P	0.60949	0.881	D	0.97774	1.0228	10	0.87932	D	0	.	18.3412	0.90305	0.0:1.0:0.0:0.0	.	682	Q12965	MYO1E_HUMAN	Q	682	ENSP00000288235:E682Q	ENSP00000288235:E682Q	E	-	1	0	MYO1E	57257889	1.000000	0.71417	0.951000	0.38953	0.831000	0.47069	7.651000	0.83577	2.552000	0.86080	0.655000	0.94253	GAG		0.612	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		G	59470597	C	G	59470597	3	3	382	1	0	0	0	0	1	0	0	0	10074	893	31	4	1322	4	MYO1E	15	59470597	Missense_Mutation	SNP	C	TCGA-BP-4967-01A-01D-1462-08	8706746	59470597	43060795	53	21251											
SPSB3	90864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1828480	1828480	+	Missense_Mutation	SNP	G	G	A	rs150535227		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr16:1828480G>A	ENST00000566339.1	-	3	590	c.260C>T	c.(259-261)tCg>tTg	p.S87L	SPSB3_ENST00000301717.4_Missense_Mutation_p.S87L	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	87	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.S87L(1)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CCGGTGGGCCGAGTGCAGGCT	0.711																																																1	Substitution - Missense(1)	kidney(1)						G	LEU/SER	2,4388	4.2+/-10.8	0,2,2193	28	31	30		260	1.9	0	16	dbSNP_134	30	0,8588		0,0,4294	no	missense	SPSB3	NM_080861.3	145	0,2,6487	AA,AG,GG		0.0,0.0456,0.0154	benign	87/356	1828480	2,12976	2195	4294	6489	SO:0001583	missense	90864				CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.260C>T	16.37:g.1828480G>A	ENSP00000457206:p.Ser87Leu		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	G	8.253	0.809366	0.16537	4.56E-4	0.0	ENSG00000162032	ENST00000301717	T	0.44482	0.92	4.97	1.92	0.25849	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.938648	0.09039	N	0.857581	T	0.17704	0.0425	N	0.08118	0	0.09310	N	1	P;B	0.36354	0.549;0.013	B;B	0.21917	0.037;0.002	T	0.10894	-1.0610	10	0.25751	T	0.34	-21.9238	6.9223	0.24395	0.1686:0.1611:0.6703:0.0	.	142;87	B7Z7H9;Q6PJ21	.;SPSB3_HUMAN	L	87	ENSP00000301717:S87L	ENSP00000301717:S87L	S	-	2	0	SPSB3	1768481	0.025000	0.19082	0.000000	0.03702	0.014000	0.08584	2.097000	0.41748	0.145000	0.18977	0.561000	0.74099	TCG		0.711	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		A	1828480	G	A	1828480	3	1	382	1	0	0	0	0	1	0	0	0	15119	1059	37	1	827	1	SPSB3	16	1828480	Missense_Mutation	SNP	G	TCGA-BP-4967-01A-01D-1462-08		1828480	88526273	54	21252											
TCEB2	6923	hgsc.bcm.edu	37	16	2825480	2825481	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr16:2825480_2825481insG	ENST00000409906.4	-	3	272_273	c.215_216insC	c.(214-216)ccafs	p.P72fs	TCEB2_ENST00000409477.1_Frame_Shift_Ins_p.P67fs|TCEB2_ENST00000572954.1_Intron|TCEB2_ENST00000262306.7_Frame_Shift_Ins_p.P72fs	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	72					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|prostate(1)	3						CCACTGTGGCTGGGGCCTGTGG	0.599																																					GBM(141;5215 5962)											0																																										SO:0001589	frameshift_variant	6923			L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.216dupC	16.37:g.2825484_2825484dupG	ENSP00000386652:p.Pro72fs		B7WPD3	Frame_Shift_Ins	INS	ENST00000409906.4	37	CCDS45387.1																																																																																				0.599	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2	NM_007108		G	2825481	-	G	2825480	7	5	382	1	0	1	1	0	0	0	0	0	15685	1567	55	0	285	0	TCEB2	16	2825480	Frame_Shift_Ins	INS	-	TCGA-BP-4967-01A-01D-1462-08	997000	2825480	87529273	55	21253											
NOD2	64127	broad.mit.edu;ucsc.edu	37	16	50745117	50745117	+	Missense_Mutation	SNP	C	C	T	rs2076754	byFrequency	TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr16:50745117C>T	ENST00000300589.2	+	4	1400	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	432	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		A -> V (associated with Crohn disease; dbSNP:rs2076754). {ECO:0000269|PubMed:11385576}.		activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.A432V(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTGTGTCGGCGTTCCTCAGG	0.612																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM015862	NOD2	M	rs2076754	C	VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	46	50	49		1295	5.3	0.1	16	dbSNP_96	49	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NOD2	NM_022162.1	64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	432/1041	50745117	2,12994	2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1295C>T	16.37:g.50745117C>T	ENSP00000300589:p.Ala432Val		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522727	0.44866	2.27E-4	1.16E-4	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.65178	-0.14	5.26	5.26	0.73747	.	0.210120	0.33364	N	0.004983	T	0.70254	0.3203	L	0.41236	1.265	0.20764	N	0.999851	D;D;D	0.71674	0.996;0.983;0.998	P;P;D	0.62955	0.85;0.662;0.909	T	0.64668	-0.6353	10	0.56958	D	0.05	.	16.3666	0.83331	0.0:1.0:0.0:0.0	rs2076754;rs2076754	216;405;432	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	V	405;432	ENSP00000300589:A432V	ENSP00000300589:A432V	A	+	2	0	NOD2	49302618	0.589000	0.26807	0.066000	0.19879	0.009000	0.06853	2.478000	0.45189	2.466000	0.83321	0.561000	0.74099	GCG		0.612	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		T	50745117	C	T	50745117	3	4	382	1	0	0	0	0	1	0	0	0	10519	768	27	1	1309	1	NOD2	16	50745117	Missense_Mutation	SNP	C	TCGA-BP-4967-01A-01D-1462-08	47919637	50745117	39609636	56	21254											
IRX3	79191	broad.mit.edu;hgsc.bcm.edu	37	16	54319294	54319294	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr16:54319294T>C	ENST00000329734.3	-	2	1211	c.499A>G	c.(499-501)Acc>Gcc	p.T167A		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	167					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T167A(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GTCATCTTGGTGATGATGGCC	0.627																																					GBM(143;1830 1866 4487 4646 37383)											1	Substitution - Missense(1)	kidney(1)											153	119	131					16																	54319294		2198	4296	6494	SO:0001583	missense	79191			U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.499A>G	16.37:g.54319294T>C	ENSP00000331608:p.Thr167Ala		Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463611	0.84425	.	.	ENSG00000177508	ENST00000329734	D	0.95069	-3.6	4.44	4.44	0.53790	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.66560	2.04	0.58432	D	0.999997	B	0.31893	0.345	P	0.50934	0.654	D	0.95947	0.8951	10	0.87932	D	0	-19.2013	11.7058	0.51597	0.0:0.0:0.0:1.0	.	167	P78415	IRX3_HUMAN	A	167	ENSP00000331608:T167A	ENSP00000331608:T167A	T	-	1	0	IRX3	52876795	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.573000	0.82421	1.861000	0.53984	0.460000	0.39030	ACC		0.627	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			C	54319294	T	C	54319294	3	2	382	1	0	0	0	0	1	0	0	0	7847	1696	59	3	1018	3	IRX3	16	54319294	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08	3574177	54319294	36035459	57	21255											
SLC12A4	6560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67979424	67979424	+	Silent	SNP	C	C	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr16:67979424C>A	ENST00000316341.3	-	22	3020	c.2880G>T	c.(2878-2880)ctG>ctT	p.L960L	SLC12A4_ENST00000572037.1_Silent_p.L912L|SLC12A4_ENST00000576616.1_Silent_p.L960L|SLC12A4_ENST00000338335.3_3'UTR|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Silent_p.L962L|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000537830.2_Silent_p.L954L|SLC12A4_ENST00000541864.2_Silent_p.L929L	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	960					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.L960L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTCCAGCCGCAGGGCCGAGT	0.587																																																1	Substitution - coding silent(1)	kidney(1)											60	61	60					16																	67979424		2197	4300	6497	SO:0001819	synonymous_variant	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2880G>T	16.37:g.67979424C>A			B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	CCDS10855.1																																																																																				0.587	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		A	67979424	C	A	67979424	2	1	382	1	0	0	0	0	0	0	0	1	14391	697	25	4		4	SLC12A4	16	67979424	Silent	SNP	C	TCGA-BP-4967-01A-01D-1462-08	13660130	67979424	22375329	58	21256											
PELP1	27043	hgsc.bcm.edu;ucsc.edu	37	17	4577915	4577915	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr17:4577915delG	ENST00000574876.1	-	13	1489	c.1472delC	c.(1471-1473)cctfs	p.P491fs	PELP1_ENST00000436683.2_Frame_Shift_Del_p.P344fs|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000572293.1_Frame_Shift_Del_p.P541fs|PELP1_ENST00000269230.7_Frame_Shift_Del_p.P489fs|PELP1_ENST00000301396.4_Frame_Shift_Del_p.P635fs			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	491					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGGGGCGCTAGGCTTCCCAGT	0.587																																																0													37	40	39					17																	4577915		1935	4138	6073	SO:0001589	frameshift_variant	27043				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1472delC	17.37:g.4577915delG	ENSP00000461625:p.Pro491fs		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Frame_Shift_Del	DEL	ENST00000574876.1	37	CCDS58503.1																																																																																				0.587	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		-	4577915	G	-	4577915	7	5	382	1	0	1	0	1	0	0	0	0	11727	1000	35	0	1940	0	PELP1	17	4577915	Frame_Shift_Del	DEL	G	TCGA-BP-4967-01A-01D-1462-08		4577915	76617295	59	21257											
PER1	5187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8048306	8048306	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr17:8048306T>A	ENST00000317276.4	-	18	2461	c.2224A>T	c.(2224-2226)Atc>Ttc	p.I742F	PER1_ENST00000578089.1_Intron|PER1_ENST00000581082.1_Missense_Mutation_p.I722F|PER1_ENST00000354903.5_Missense_Mutation_p.I726F	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	742	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.I742F(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCATCATGATGATGTCTGAG	0.622			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	1	Substitution - Missense(1)	kidney(1)											25	27	26					17																	8048306		2195	4295	6490	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2224A>T	17.37:g.8048306T>A	ENSP00000314420:p.Ile742Phe		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.652218	0.29336	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.37584	2.57;1.19	5.38	-1.05	0.10036	.	0.394497	0.26460	N	0.024248	T	0.25158	0.0611	L	0.49126	1.545	0.36326	D	0.858538	B;P	0.38335	0.282;0.627	B;B	0.31245	0.126;0.105	T	0.16305	-1.0407	10	0.52906	T	0.07	-2.394	9.2899	0.37780	0.0:0.5765:0.0:0.4235	.	726;742	B4DI49;O15534	.;PER1_HUMAN	F	742;726	ENSP00000314420:I742F;ENSP00000346979:I726F	ENSP00000314420:I742F	I	-	1	0	PER1	7989031	0.996000	0.38824	0.990000	0.47175	0.997000	0.91878	0.217000	0.17603	-0.183000	0.10585	0.533000	0.62120	ATC		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8048306	T	A	8048306	3	1	382	1	0	0	0	0	1	0	0	0	11731	1464	51	5	1672	5	PER1	17	8048306	Missense_Mutation	SNP	T	TCGA-BP-4967-01A-01D-1462-08	3470391	8048306	73146904	60	21258											
CYTSB	92521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	20130773	20130773	+	Silent	SNP	C	C	T	rs373578290		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr17:20130773C>T	ENST00000261503.5	+	5	1962	c.1911C>T	c.(1909-1911)gcC>gcT	p.A637A	SPECC1_ENST00000395525.3_Silent_p.A556A|SPECC1_ENST00000395522.2_Silent_p.A556A|SPECC1_ENST00000395527.4_Silent_p.A637A|SPECC1_ENST00000536879.1_5'UTR|SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395529.3_Silent_p.A637A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000584527.1_Silent_p.A55A|SPECC1_ENST00000395530.2_Silent_p.A556A	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	637					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.A637A(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATCACCAAGCCGAACAGCTGA	0.393																																																1	Substitution - coding silent(1)	kidney(1)						C	,,,	0,4406		0,0,2203	57	53	54		1911,1668,1668,1911	-0.2	1	17		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPECC1	NM_001033553.2,NM_001033554.2,NM_001033555.2,NM_152904.4	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	637/1069,556/710,556/988,637/791	20130773	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1911C>T	17.37:g.20130773C>T			B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	CCDS32590.1																																																																																				0.393	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		T	20130773	C	T	20130773	2	4	382	1	0	0	0	0	0	0	0	1	4212	639	23	1		1	CYTSB	17	20130773	Silent	SNP	C	TCGA-BP-4967-01A-01D-1462-08	12082467	20130773	61064437	61	21259											
SEZ6	124925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27308944	27308944	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr17:27308944A>C	ENST00000317338.12	-	2	597	c.169T>G	c.(169-171)Ttt>Gtt	p.F57V	SEZ6_ENST00000360295.9_Missense_Mutation_p.F57V|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.F57V|SEZ6_ENST00000442608.3_Missense_Mutation_p.F57V			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	57					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.F57V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTTGTGACAAAGTGGACGCCT	0.612																																																1	Substitution - Missense(1)	kidney(1)											45	50	49					17																	27308944		2121	4246	6367	SO:0001583	missense	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.169T>G	17.37:g.27308944A>C	ENSP00000312942:p.Phe57Val		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432263	0.62844	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000335960;ENST00000541381	T;T;T	0.43688	1.02;0.94;1.78	4.98	4.98	0.66077	.	0.000000	0.40222	U	0.001158	T	0.50531	0.1621	L	0.34521	1.04	0.38766	D	0.954446	D;D;D	0.67145	0.996;0.996;0.993	D;D;D	0.75484	0.986;0.986;0.968	T	0.49881	-0.8892	10	0.29301	T	0.29	.	12.6183	0.56590	1.0:0.0:0.0:0.0	.	57;57;57	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	V	57	ENSP00000403784:F57V;ENSP00000353440:F57V;ENSP00000337407:F57V	ENSP00000337407:F57V	F	-	1	0	SEZ6	24333070	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	3.587000	0.53957	1.880000	0.54463	0.379000	0.24179	TTT		0.612	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			C	27308944	A	C	27308944	3	2	382	1	0	0	0	0	1	0	0	0	14148	72	3	5	2892	5	SEZ6	17	27308944	Missense_Mutation	SNP	A	TCGA-BP-4967-01A-01D-1462-08	7178171	27308944	53886266	62	21260											
STAT5B	6777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40359718	40359718	+	Silent	SNP	A	A	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr17:40359718A>G	ENST00000293328.3	-	16	2103	c.1935T>C	c.(1933-1935)ccT>ccC	p.P645P		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	645	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P645P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGTGGTAAAAGGCATCAGAT	0.393																																																1	Substitution - coding silent(1)	kidney(1)											103	102	103					17																	40359718		2203	4300	6503	SO:0001819	synonymous_variant	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1935T>C	17.37:g.40359718A>G			Q8WWS8	Silent	SNP	ENST00000293328.3	37	CCDS11423.1																																																																																				0.393	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		G	40359718	A	G	40359718	2	3	382	1	0	0	0	0	0	0	0	1	15274	59	3	3		3	STAT5B	17	40359718	Silent	SNP	A	TCGA-BP-4967-01A-01D-1462-08	13050774	40359718	40835492	63	21261											
CEP192	55125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	13114196	13114196	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr18:13114196A>C	ENST00000325971.8	+	40	7040	c.5447A>C	c.(5446-5448)cAt>cCt	p.H1816P	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.H2412P|CEP192_ENST00000430049.2_Missense_Mutation_p.H1937P			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1816					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.H2412P(1)|p.H1816P(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAAATAGATCATTTAGTTAAG	0.408																																																2	Substitution - Missense(2)	kidney(2)											149	147	148					18																	13114196		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5447A>C	18.37:g.13114196A>C	ENSP00000317156:p.His1816Pro		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	A	10.21	1.287974	0.23478	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06068	3.35;3.35;3.36	5.38	-0.322	0.12713	.	0.539112	0.21315	N	0.076562	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.41858	-0.9485	10	0.23302	T	0.38	-3.0E-4	1.7086	0.02887	0.2999:0.2629:0.0745:0.3627	.	1937;2412;416;1014	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	P	2412;1816;1816;1937;416	ENSP00000427550:H2412P;ENSP00000317156:H1816P;ENSP00000389190:H1937P	ENSP00000317156:H1816P	H	+	2	0	CEP192	13104196	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	0.357000	0.20199	-0.277000	0.09193	0.374000	0.22700	CAT		0.408	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		C	13114196	A	C	13114196	3	2	382	1	0	0	0	0	1	0	0	0	3253	217	8	5	7397	5	CEP192	18	13114196	Missense_Mutation	SNP	A	TCGA-BP-4967-01A-01D-1462-08		13114196	64963052	64	21262											
CHST9	83539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	24496340	24496340	+	Silent	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr18:24496340G>T	ENST00000284224.8	-	6	1492	c.1215C>A	c.(1213-1215)acC>acA	p.T405T	CHST9_ENST00000581714.1_Silent_p.T405T|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	405					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.T405T(1)|p.T320T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTTGAGCATTGGTTCTTTCAT	0.353																																																2	Substitution - coding silent(2)	kidney(2)											146	137	140					18																	24496340		1843	4092	5935	SO:0001819	synonymous_variant	83539			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1215C>A	18.37:g.24496340G>T			Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	37	CCDS42422.1																																																																																				0.353	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		T	24496340	G	T	24496340	2	4	382	1	0	0	0	0	0	0	0	1	3413	1335	47	4		4	CHST9	18	24496340	Silent	SNP	G	TCGA-BP-4967-01A-01D-1462-08	11382144	24496340	53580908	65	21263											
POLRMT	5442	broad.mit.edu	37	19	632854	632854	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr19:632854delC	ENST00000588649.2	-	2	257	c.173delG	c.(172-174)ggcfs	p.G58fs		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	58					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCACGTGGCCCCAGTCCTT	0.697																																																0													13	13	13					19																	632854		2153	4261	6414	SO:0001589	frameshift_variant	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.173delG	19.37:g.632854delC	ENSP00000465759:p.Gly58fs		O60370	Frame_Shift_Del	DEL	ENST00000588649.2	37	CCDS12036.1																																																																																				0.697	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		-	632854	C	-	632854	7	5	382	1	0	1	0	1	0	0	0	0	12240	739	26	0	3599	0	POLRMT	19	632854	Frame_Shift_Del	DEL	C	TCGA-BP-4967-01A-01D-1462-08		632854	58496129	66	21264											
BTBD2	55643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1993133	1993133	+	Silent	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr19:1993133C>T	ENST00000255608.4	-	3	586	c.570G>A	c.(568-570)gtG>gtA	p.V190V	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA|BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	190						cytoplasmic mRNA processing body (GO:0000932)		p.V190V(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGGTCATCACCGTCTCCG	0.637																																																1	Substitution - coding silent(1)	kidney(1)											84	60	68					19																	1993133		2203	4300	6503	SO:0001819	synonymous_variant	55643			AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.570G>A	19.37:g.1993133C>T			O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	37	CCDS12078.1																																																																																				0.637	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			T	1993133	C	T	1993133	2	4	382	1	0	0	0	0	0	0	0	1	1545	813	29	2		2	BTBD2	19	1993133	Silent	SNP	C	TCGA-BP-4967-01A-01D-1462-08	1360279	1993133	57135850	67	21265											
RINL	126432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39361507	39361507	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr19:39361507C>T	ENST00000591812.1	-	8	813	c.727G>A	c.(727-729)Gag>Aag	p.E243K	RINL_ENST00000340740.3_Missense_Mutation_p.E129K|RINL_ENST00000598904.1_Missense_Mutation_p.E129K|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	243	Glu-rich.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E129K(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						CTTCCTTCCTCCTTTCCTTCA	0.632																																																1	Substitution - Missense(1)	kidney(1)											75	73	74					19																	39361507		2203	4299	6502	SO:0001583	missense	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.727G>A	19.37:g.39361507C>T	ENSP00000467107:p.Glu243Lys		B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492300	0.44352	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.44482	0.92	4.63	1.29	0.21616	.	1.111770	0.06780	N	0.785107	T	0.20577	0.0495	N	0.19112	0.55	0.09310	N	1	B;B	0.33694	0.421;0.281	B;B	0.22386	0.039;0.027	T	0.13442	-1.0509	10	0.10111	T	0.7	-7.303	4.6242	0.12470	0.0:0.6201:0.1808:0.199	.	243;129	B4DPG5;Q6ZS11	.;RINL_HUMAN	K	129	ENSP00000340369:E129K	ENSP00000340369:E129K	E	-	1	0	RINL	44053347	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.640000	0.05440	0.185000	0.20105	-0.479000	0.04858	GAG		0.632	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		T	39361507	C	T	39361507	3	4	382	1	0	0	0	0	1	0	0	0	13381	864	30	2	993	2	RINL	19	39361507	Missense_Mutation	SNP	C	TCGA-BP-4967-01A-01D-1462-08	37368374	39361507	19767476	68	21266											
PRKD2	25865	hgsc.bcm.edu;ucsc.edu	37	19	47177890	47177899	+	Frame_Shift_Del	DEL	CTGCTGCAAA	CTGCTGCAAA	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	CTGCTGCAAA	CTGCTGCAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr19:47177890_47177899delCTGCTGCAAA	ENST00000291281.4	-	18	2743_2752	c.2518_2527delTTTGCAGCAG	c.(2518-2529)tttgcagcagagfs	p.FAAE840fs	PRKD2_ENST00000433867.1_Frame_Shift_Del_p.FAAE840fs|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000595515.1_Frame_Shift_Del_p.FAAE850fs|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000600194.1_Frame_Shift_Del_p.FAAE683fs|PRKD2_ENST00000601806.1_Frame_Shift_Del_p.FAAE683fs			Q9BZL6	KPCD2_HUMAN	protein kinase D2	840					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AGCGGATGCTCTGCTGCAAACTGCTCCCAG	0.652																																																0																																										SO:0001589	frameshift_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2518_2527delTTTGCAGCAG	19.37:g.47177890_47177899delCTGCTGCAAA	ENSP00000291281:p.Phe840fs		Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Del	DEL	ENST00000291281.4	37	CCDS12689.1																																																																																				0.652	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		-	47177899	CTGCTGCAAA	-	47177890	7	5	382	1	0	1	0	1	0	0	0	0	12524	922	32	0	113	0	PRKD2	19	47177890	Frame_Shift_Del	DEL	CTGCTGCAAA	TCGA-BP-4967-01A-01D-1462-08	7816383	47177890	11951093	69	21267											
ZIM3	114026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57646763	57646763	+	Silent	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr19:57646763C>T	ENST00000269834.1	-	5	1327	c.942G>A	c.(940-942)aaG>aaA	p.K314K	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K314K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATGAAAGCCTTTCCACAGT	0.398																																																1	Substitution - coding silent(1)	kidney(1)											137	135	136					19																	57646763		2203	4300	6503	SO:0001819	synonymous_variant	114026			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.942G>A	19.37:g.57646763C>T			Q14CA6	Silent	SNP	ENST00000269834.1	37	CCDS33125.1																																																																																				0.398	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			T	57646763	C	T	57646763	2	4	382	1	0	0	0	0	0	0	0	1	17690	680	24	2		2	ZIM3	19	57646763	Silent	SNP	C	TCGA-BP-4967-01A-01D-1462-08	10468873	57646763	1482220	70	21268											
C20orf46	55321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	1162182	1162183	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr20:1162182_1162183insG	ENST00000381894.3	-	2	751_752	c.80_81insC	c.(79-81)tctfs	p.S27fs	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	27						integral component of membrane (GO:0016021)											GACCAGGGGGAGATGCCATTGG	0.584																																																0																																										SO:0001589	frameshift_variant	0			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 46"	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.81dupC	20.37:g.1162183_1162183dupG	ENSP00000371318:p.Ser27fs		D3DVW5	Frame_Shift_Ins	INS	ENST00000381894.3	37	CCDS13011.1																																																																																				0.584	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		G	1162183	-	G	1162182	7	5	382	1	0	1	1	0	0	0	0	0	2115	291	11	0	693	0	C20orf46	20	1162182	Frame_Shift_Ins	INS	-	TCGA-BP-4967-01A-01D-1462-08		1162182	61863338	71	21269											
CNKSR2	22866	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	21667030	21667030	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:21667030G>T	ENST00000379510.3	+	21	2810	c.2774G>T	c.(2773-2775)gGa>gTa	p.G925V	CNKSR2_ENST00000425654.2_Missense_Mutation_p.G895V	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	925					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.G925V(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCACCACTAGGAGAACATCGT	0.388																																																1	Substitution - Missense(1)	kidney(1)											110	111	110					X																	21667030		2203	4300	6503	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2774G>T	X.37:g.21667030G>T	ENSP00000368824:p.Gly925Val		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622973	0.66901	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.39406	1.08;1.12	5.76	5.76	0.90799	.	0.100512	0.64402	D	0.000002	T	0.63165	0.2488	M	0.71036	2.16	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.61132	0.884;0.884	T	0.66472	-0.5915	10	0.87932	D	0	-6.1305	18.9593	0.92671	0.0:0.0:1.0:0.0	.	895;925	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	V	895;925	ENSP00000397906:G895V;ENSP00000368824:G925V	ENSP00000368824:G925V	G	+	2	0	CNKSR2	21576951	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.497000	0.66924	2.426000	0.82243	0.600000	0.82982	GGA		0.388	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		T	21667030	G	T	21667030	3	4	382	1	0	0	0	0	1	0	0	0	3609	1174	41	4	2865	4	CNKSR2	23	21667030	Missense_Mutation	SNP	G	TCGA-BP-4967-01A-01D-1462-08		21667030	133603530	72	21270											
GAGE12J	729396	broad.mit.edu;hgsc.bcm.edu	37	X	49179737	49179737	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:49179737A>T	ENST00000442437.2	+	2	161	c.65A>T	c.(64-66)gAa>gTa	p.E22V		NM_001098406.1	NP_001091876.1	A6NER3	GG12J_HUMAN	G antigen 12J	22								p.E22V(1)		kidney(2)|large_intestine(2)|lung(1)|prostate(1)	6	Ovarian(276;0.236)					CAGCCTCCTGAAATGATTGGG	0.413																																																1	Substitution - Missense(1)	kidney(1)											232	170	193					X																	49179737		1487	2608	4095	SO:0001583	missense	729396				CCDS43939.1	Xp11.23	2008-02-05	2007-07-23	2007-07-23	ENSG00000224659	ENSG00000224659			17778	protein-coding gene	gene with protein product		300733	"G antigen 11"	GAGE11			Standard	NM_001098406		Approved	OTTHUMG00000024137		A6NER3	OTTHUMG00000024137	ENST00000442437.2:c.65A>T	X.37:g.49179737A>T	ENSP00000409832:p.Glu22Val			Missense_Mutation	SNP	ENST00000442437.2	37	CCDS43939.1	.	.	.	.	.	.	.	.	.	.	.	9.686	1.150606	0.21371	.	.	ENSG00000224659	ENST00000442437	T	0.13538	2.58	0.682	-1.24	0.09435	.	.	.	.	.	T	0.31606	0.0802	M	0.77820	2.39	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.997;0.997	T	0.10405	-1.0631	8	0.87932	D	0	.	.	.	.	.	22;22;22	A6NER3;P0CL81;P0CL80	GG12J_HUMAN;GG12G_HUMAN;GG12F_HUMAN	V	22	ENSP00000409832:E22V	ENSP00000409832:E22V	E	+	2	0	GAGE12J	49066681	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.082000	0.11304	-0.412000	0.07519	0.151000	0.16131	GAA		0.413	GAGE12J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060817.1	NM_001098406		T	49179737	A	T	49179737	3	4	382	1	0	0	0	0	1	0	0	0	6190	246	9	5	67	5	GAGE12J	23	49179737	Missense_Mutation	SNP	A	TCGA-BP-4967-01A-01D-1462-08	27512707	49179737	106090823	73	21271											
MAGEE1	57692	broad.mit.edu;hgsc.bcm.edu	37	X	75649863	75649863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:75649863G>T	ENST00000361470.2	+	1	1818	c.1540G>T	c.(1540-1542)Gag>Tag	p.E514*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	514	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E514*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCTATCCGGGAGTCTGAAAT	0.488																																																2	Substitution - Nonsense(2)	kidney(2)											57	57	57					X																	75649863		2203	4300	6503	SO:0001587	stop_gained	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1540G>T	X.37:g.75649863G>T	ENSP00000354912:p.Glu514*		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Nonsense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580475	0.65992	.	.	ENSG00000198934	ENST00000361470	.	.	.	2.13	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	4.2951	0.10897	0.2126:0.0:0.7874:0.0	.	.	.	.	X	514	.	ENSP00000354912:E514X	E	+	1	0	MAGEE1	75566267	0.994000	0.37717	0.006000	0.13384	0.001000	0.01503	1.141000	0.31528	0.320000	0.23234	-0.215000	0.12644	GAG		0.488	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		T	75649863	G	T	75649863	4	4	382	1	0	0	0	0	0	1	0	0	9187	1175	41	4	1542	4	MAGEE1	23	75649863	Nonsense_Mutation	SNP	G	TCGA-BP-4967-01A-01D-1462-08	26470126	75649863	79620697	74	21272											
ITM2A	9452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	78618083	78618083	+	Silent	SNP	G	G	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:78618083G>A	ENST00000373298.2	-	4	690	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	ITM2A_ENST00000434584.2_Silent_p.L139L|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	183	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)		p.L183L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CATACCGCCAGTTTGCCAAAG	0.348																																																1	Substitution - coding silent(1)	kidney(1)											57	53	55					X																	78618083		2203	4299	6502	SO:0001819	synonymous_variant	9452			BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"BRICHOS domain containing"	6173	protein-coding gene	gene with protein product	"BRICHOS domain containing 2A"	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.547C>T	X.37:g.78618083G>A			B2R7X5|B4E062|Q6IBC9	Silent	SNP	ENST00000373298.2	37	CCDS14444.1																																																																																				0.348	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		A	78618083	G	A	78618083	2	1	382	1	0	0	0	0	0	0	0	1	7914	1020	36	2		2	ITM2A	23	78618083	Silent	SNP	G	TCGA-BP-4967-01A-01D-1462-08	2968220	78618083	76652477	75	21273											
GPRASP1	9737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101912814	101912815	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:101912814_101912815insT	ENST00000361600.5	+	5	4774_4775	c.3973_3974insT	c.(3973-3975)ctcfs	p.L1325fs	GPRASP1_ENST00000537097.1_Frame_Shift_Ins_p.L1325fs|GPRASP1_ENST00000415986.1_Frame_Shift_Ins_p.L1325fs|GPRASP1_ENST00000444152.1_Frame_Shift_Ins_p.L1325fs|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1325	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATTTATAGGCCTCTTTAACAGG	0.322																																																0																																										SO:0001589	frameshift_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3974dupT	X.37:g.101912815_101912815dupT	ENSP00000355146:p.Leu1325fs		O43168|Q96LA1	Frame_Shift_Ins	INS	ENST00000361600.5	37	CCDS35352.1																																																																																				0.322	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		T	101912815	-	T	101912814	7	5	382	1	0	1	1	0	0	0	0	0	6724	681	24	0	3975	0	GPRASP1	23	101912814	Frame_Shift_Ins	INS	-	TCGA-BP-4967-01A-01D-1462-08	23294731	101912814	53357746	76	21274											
SLITRK4	139065	hgsc.bcm.edu	37	X	142717055	142717058	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	TACT	TACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:142717055_142717058delTACT	ENST00000381779.4	-	2	2092_2095	c.1867_1870delAGTA	c.(1867-1872)agtatcfs	p.SI623fs	SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.SI623fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.SI623fs	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	623						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACCACTAAGATACTTAAGATTAAA	0.48																																																0																																										SO:0001589	frameshift_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1867_1870delAGTA	X.37:g.142717055_142717058delTACT	ENSP00000371198:p.Ser623fs		Q5JXG3|Q8TCM8|Q96DL3	Frame_Shift_Del	DEL	ENST00000381779.4	37	CCDS14679.1																																																																																				0.48	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		-	142717058	TACT	-	142717055	7	5	382	1	0	1	0	1	0	0	0	0	14751	1406	49	0	647	0	SLITRK4	23	142717055	Frame_Shift_Del	DEL	TACT	TCGA-BP-4967-01A-01D-1462-08	40804241	142717055	12553505	77	21275											
PLEKHG5	57449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	6532596	6532596	+	Silent	SNP	C	C	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr1:6532596C>G	ENST00000400915.3	-	11	1305	c.1239G>C	c.(1237-1239)gtG>gtC	p.V413V	PLEKHG5_ENST00000377740.3_Silent_p.V434V|PLEKHG5_ENST00000377732.1_Silent_p.V394V|PLEKHG5_ENST00000377737.2_Silent_p.V357V|PLEKHG5_ENST00000377748.1_Silent_p.V434V|PLEKHG5_ENST00000544978.1_Silent_p.V357V|PLEKHG5_ENST00000537245.1_Silent_p.V436V|PLEKHG5_ENST00000340850.5_Silent_p.V357V|PLEKHG5_ENST00000535355.1_Silent_p.V426V|PLEKHG5_ENST00000377728.3_Silent_p.V357V|PLEKHG5_ENST00000377725.1_Silent_p.V357V|PLEKHG5_ENST00000400913.1_Silent_p.V357V	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	413	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.V434V(1)		liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CGTTGATGATCACCCGCAGTT	0.642																																																1	Substitution - coding silent(1)	kidney(1)											54	47	49					1																	6532596		2203	4300	6503	SO:0001819	synonymous_variant	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1239G>C	1.37:g.6532596C>G			B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	CCDS41241.1																																																																																				0.642	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		G	6532596	C	G	6532596	2	3	383	1	0	0	0	0	0	0	0	1	12075	813	29	4		4	PLEKHG5	1	6532596	Silent	SNP	C	TCGA-BP-4968-01A-01D-1462-08		6532596	242718025	1	21276											
VPS13D	55187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12336481	12336481	+	Missense_Mutation	SNP	C	C	T	rs41279448		TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr1:12336481C>T	ENST00000358136.3	+	19	2966	c.2836C>T	c.(2836-2838)Cgc>Tgc	p.R946C	VPS13D_ENST00000356315.4_Missense_Mutation_p.R946C	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R946C(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAGCATACCCGCGAGGTTCT	0.488											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		19368	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	59	60	60		2836,2836	4	0.9	1	dbSNP_127	60	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	VPS13D	NM_015378.2,NM_018156.2	180,180	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging	946/4389,946/4364	12336481	4,13002	2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2836C>T	1.37:g.12336481C>T	ENSP00000350854:p.Arg946Cys	679		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.92	2.081751	0.36758	2.27E-4	3.49E-4	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.55930	0.49;0.5	6.06	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.67313	-0.5702	10	0.56958	D	0.05	.	16.3332	0.83050	0.3399:0.6601:0.0:0.0	rs41279448	946;946	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	C	946	ENSP00000348666:R946C;ENSP00000350854:R946C	ENSP00000348666:R946C	R	+	1	0	VPS13D	12259068	0.420000	0.25457	0.900000	0.35374	0.984000	0.73092	1.042000	0.30303	1.539000	0.49286	0.655000	0.94253	CGC		0.488	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12336481	C	T	12336481	3	4	383	1	0	0	0	0	1	0	0	0	17197	652	23	1	2906	1	VPS13D	1	12336481	Missense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08	5803885	12336481	236914140	2	21277											
EPHA8	2046	broad.mit.edu;hgsc.bcm.edu	37	1	22920118	22920118	+	Silent	SNP	C	C	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr1:22920118C>G	ENST00000166244.3	+	7	1614	c.1542C>G	c.(1540-1542)gcC>gcG	p.A514A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	514	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.A514A(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGTCCGAGCCCGCACCTCAG	0.687																																																1	Substitution - coding silent(1)	kidney(1)											21	23	23					1																	22920118		2192	4298	6490	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1542C>G	1.37:g.22920118C>G			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.687	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		G	22920118	C	G	22920118	2	3	383	1	0	0	0	0	0	0	0	1	5175	610	22	4		4	EPHA8	1	22920118	Silent	SNP	C	TCGA-BP-4968-01A-01D-1462-08	10583637	22920118	226330503	3	21278											
PROX1	5629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214171381	214171381	+	Silent	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr1:214171381C>T	ENST00000366958.4	+	2	2111	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	PROX1_ENST00000498508.2_Silent_p.S501S|PROX1_ENST00000261454.4_Silent_p.S501S|PROX1_ENST00000435016.1_Silent_p.S501S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	501					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S501S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTGCTCCCTCCGGCTCCTTCT	0.562																																																1	Substitution - coding silent(1)	kidney(1)											75	83	80					1																	214171381		2203	4300	6503	SO:0001819	synonymous_variant	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1503C>T	1.37:g.214171381C>T			A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	CCDS31021.1																																																																																				0.562	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		T	214171381	C	T	214171381	2	4	383	1	0	0	0	0	0	0	0	1	12565	639	23	1		1	PROX1	1	214171381	Silent	SNP	C	TCGA-BP-4968-01A-01D-1462-08	191251263	214171381	35079240	4	21279											
TTC13	79573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	231076263	231076263	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr1:231076263C>A	ENST00000366661.4	-	7	719	c.712G>T	c.(712-714)Gac>Tac	p.D238Y	TTC13_ENST00000414259.1_Missense_Mutation_p.D185Y|TTC13_ENST00000366662.4_Missense_Mutation_p.D185Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	238								p.D238Y(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTAGTGAGGTCATTCACTGCT	0.448																																																1	Substitution - Missense(1)	kidney(1)											114	104	107					1																	231076263		2203	4300	6503	SO:0001583	missense	79573				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.712G>T	1.37:g.231076263C>A	ENSP00000355621:p.Asp238Tyr		B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041737	0.75732	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000522399	T;T;T;T	0.74842	1.14;0.34;0.34;-0.88	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.87091	0.6091	M	0.85462	2.755	0.80722	D	1	P;D;P;P	0.59767	0.833;0.986;0.617;0.855	B;D;B;B	0.64237	0.187;0.923;0.33;0.287	D	0.87648	0.2526	10	0.48119	T	0.1	-0.2714	19.1143	0.93331	0.0:1.0:0.0:0.0	.	163;185;185;238	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	Y	238;185;185;128	ENSP00000355621:D238Y;ENSP00000355622:D185Y;ENSP00000416631:D185Y;ENSP00000428622:D128Y	ENSP00000355621:D238Y	D	-	1	0	TTC13	229142886	1.000000	0.71417	0.967000	0.41034	0.977000	0.68977	7.456000	0.80751	2.520000	0.84964	0.655000	0.94253	GAC		0.448	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		A	231076263	C	A	231076263	3	1	383	1	0	0	0	0	1	0	0	0	16685	826	29	4	1938	4	TTC13	1	231076263	Missense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08	16904882	231076263	18174358	5	21280											
ZFP36L2	678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43452170	43452170	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr2:43452170A>G	ENST00000282388.3	-	2	1066	c.773T>C	c.(772-774)cTc>cCc	p.L258P	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	258					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L258P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGAGAAGCTGAGGCTGTGGTG	0.761																																																1	Substitution - Missense(1)	kidney(1)											11	20	17					2																	43452170		2145	4226	6371	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.773T>C	2.37:g.43452170A>G	ENSP00000282388:p.Leu258Pro		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748134	0.69533	.	.	ENSG00000152518	ENST00000282388	T	0.52754	0.65	4.37	4.37	0.52481	.	0.073354	0.56097	D	0.000035	T	0.55465	0.1922	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.59705	-0.7404	10	0.87932	D	0	-23.2267	12.5657	0.56308	1.0:0.0:0.0:0.0	.	258	P47974	TISD_HUMAN	P	258	ENSP00000282388:L258P	ENSP00000282388:L258P	L	-	2	0	ZFP36L2	43305674	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.657000	0.54474	1.608000	0.50180	0.459000	0.35465	CTC		0.761	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		G	43452170	A	G	43452170	3	3	383	1	0	0	0	0	1	0	0	0	17652	304	11	3	715	3	ZFP36L2	2	43452170	Missense_Mutation	SNP	A	TCGA-BP-4968-01A-01D-1462-08		43452170	199747203	6	21281											
CCDC142	84865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74709054	74709054	+	Missense_Mutation	SNP	T	T	G	rs138040614	byFrequency	TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr2:74709054T>G	ENST00000393965.3	-	1	1307	c.911A>C	c.(910-912)cAa>cCa	p.Q304P	TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000410003.1_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.Q304P|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	304								p.Q304P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GGTCCAGTATTGGCTCCACAA	0.662																																																1	Substitution - Missense(1)	kidney(1)											44	49	47					2																	74709054		2203	4300	6503	SO:0001583	missense	84865			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.911A>C	2.37:g.74709054T>G	ENSP00000377537:p.Gln304Pro		B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.222997	0.79464	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.54071	0.59;0.61	4.71	4.71	0.59529	.	0.000000	0.49305	D	0.000153	T	0.62792	0.2457	M	0.72118	2.19	0.36838	D	0.887269	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.55303	0.773;0.773;0.773	T	0.71192	-0.4665	10	0.52906	T	0.07	-13.1827	10.7561	0.46237	0.0:0.0:0.0:1.0	.	304;304;304	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	P	304	ENSP00000377537:Q304P;ENSP00000290418:Q304P	ENSP00000290418:Q304P	Q	-	2	0	CCDC142	74562562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.559000	0.36320	2.109000	0.64355	0.533000	0.62120	CAA		0.662	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		G	74709054	T	G	74709054	3	3	383	1	0	0	0	0	1	0	0	0	2778	1812	63	5	1356	5	CCDC142	2	74709054	Missense_Mutation	SNP	T	TCGA-BP-4968-01A-01D-1462-08	31256884	74709054	168490319	7	21282											
TADA3	10474	broad.mit.edu	37	3	9825848	9825848	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr3:9825848C>A	ENST00000301964.2	-	8	1528	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S	TADA3_ENST00000343450.2_Missense_Mutation_p.A324S|TADA3_ENST00000440161.1_Missense_Mutation_p.A324S	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	324					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A324S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						AGGCCCTGGGCAATTAGCTCC	0.612																																																1	Substitution - Missense(1)	kidney(1)											49	47	48					3																	9825848		2203	4300	6503	SO:0001583	missense	10474			AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.970G>T	3.37:g.9825848C>A	ENSP00000307684:p.Ala324Ser		Q6FI83|Q9UFS2	Missense_Mutation	SNP	ENST00000301964.2	37	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663235	0.29515	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	6.17	6.17	0.99709	.	0.048179	0.85682	D	0.000000	T	0.51449	0.1675	N	0.22421	0.69	0.58432	D	0.999996	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.41288	-0.9517	9	0.18710	T	0.47	-12.5147	20.8794	0.99867	0.0:1.0:0.0:0.0	.	324;324	O75528;A8K899	TADA3_HUMAN;.	S	324	.	ENSP00000307684:A324S	A	-	1	0	TADA3	9800848	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.802000	0.69122	2.941000	0.99782	0.655000	0.94253	GCC		0.612	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			A	9825848	C	A	9825848	3	1	383	1	0	0	0	0	1	0	0	0	15517	710	25	4	340	4	TADA3	3	9825848	Missense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08		9825848	188196582	8	21283											
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183734	10183734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr3:10183734C>A	ENST00000256474.2	+	1	1043	c.203C>A	c.(202-204)tCg>tAg	p.S68*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCGGTGAACTCGCGCGAGCCC	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Nonsense(15)|Deletion - Frameshift(3)|Complex - frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(24)	GRCh37	CM003058|CM971566	VHL	M							8	11	10					3																	10183734		2146	4213	6359	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.203C>A	3.37:g.10183734C>A	ENSP00000256474:p.Ser68*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088584	0.94100	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.45	4.53	0.55603	.	0.369470	0.28203	N	0.016215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8236	13.5532	0.61745	0.0:0.7597:0.2403:0.0	.	.	.	.	X	68	.	ENSP00000256474:S68X	S	+	2	0	VHL	10158734	0.146000	0.22672	0.981000	0.43875	0.672000	0.39443	0.351000	0.20096	2.567000	0.86603	0.550000	0.68814	TCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183734	C	A	10183734	4	1	383	1	0	0	0	0	0	1	0	0	17167	893	31	4	205	4	VHL	3	10183734	Nonsense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08	357886	10183734	187838696	9	21284											
PRDM5	11107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	121828700	121828700	+	Missense_Mutation	SNP	C	C	T	rs374583073		TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr4:121828700C>T	ENST00000264808.3	-	2	346	c.106G>A	c.(106-108)Gga>Aga	p.G36R	PRDM5_ENST00000515109.1_Missense_Mutation_p.G36R|PRDM5_ENST00000428209.2_Missense_Mutation_p.G36R|PRDM5_ENST00000394435.2_Missense_Mutation_p.G36R	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	36	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G36R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCAAAGGGTCCGAACTTTTCA	0.343																																																1	Substitution - Missense(1)	kidney(1)						C	ARG/GLY	0,4406		0,0,2203	126	124	125		106	5.8	1	4		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRDM5	NM_018699.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	36/631	121828700	1,13005	2203	4300	6503	SO:0001583	missense	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.106G>A	4.37:g.121828700C>T	ENSP00000264808:p.Gly36Arg		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579117	0.86645	0.0	1.16E-4	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.81	5.81	0.92471	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.94778	0.8314	M	0.89095	3.005	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.95126	0.8251	10	0.87932	D	0	-16.7052	18.8497	0.92222	0.0:1.0:0.0:0.0	.	36;36;36;36	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	R	36	ENSP00000264808:G36R;ENSP00000422309:G36R;ENSP00000404832:G36R;ENSP00000377955:G36R	ENSP00000264808:G36R	G	-	1	0	PRDM5	122048150	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.734000	0.68580	2.746000	0.94184	0.655000	0.94253	GGA		0.343	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			T	121828700	C	T	121828700	3	4	383	1	0	0	0	0	1	0	0	0	12465	661	23	1	1846	1	PRDM5	4	121828700	Missense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08		121828700	69325576	10	21285											
ELF2	1998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	139983076	139983076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr4:139983076C>T	ENST00000394235.2	-	8	1215	c.713G>A	c.(712-714)tGg>tAg	p.W238*	ELF2_ENST00000515489.1_5'Flank|ELF2_ENST00000379549.2_Nonsense_Mutation_p.W161*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.W238*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.W178*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.W190*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.W250*	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.W238*(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					ATGCTTTCCCCAAAGCTTAGA	0.363																																																1	Substitution - Nonsense(1)	kidney(1)											111	100	103					4																	139983076		2203	4300	6503	SO:0001587	stop_gained	1998			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.713G>A	4.37:g.139983076C>T	ENSP00000377782:p.Trp238*			Nonsense_Mutation	SNP	ENST00000394235.2	37	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222042	0.79464	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408;ENST00000420916;ENST00000512627	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	.	.	.	X	190;238;250;238;161;53;178;161;149	.	.	W	-	2	0	ELF2	140202526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.659000	0.90383	0.655000	0.94253	TGG		0.363	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		T	139983076	C	T	139983076	4	4	383	1	0	0	0	0	0	1	0	0	5056	595	21	2	1044	2	ELF2	4	139983076	Nonsense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08	18154376	139983076	51171200	11	21286											
OTUD4	54726	hgsc.bcm.edu	37	4	146063397	146063398	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr4:146063397_146063398insG	ENST00000447906.2	-	18	1959_1960	c.1772_1773insC	c.(1771-1773)ccafs	p.P591fs	OTUD4_ENST00000454497.2_Frame_Shift_Ins_p.P526fs|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	591					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GCACAGTGGCTGGTAAAGAAGG	0.47																																																0																																										SO:0001589	frameshift_variant	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1773dupC	4.37:g.146063399_146063399dupG	ENSP00000395487:p.Pro591fs		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Frame_Shift_Ins	INS	ENST00000447906.2	37																																																																																					0.47	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		G	146063398	-	G	146063397	7	5	383	1	0	1	1	0	0	0	0	0	11316	1567	55	0	1587	0	OTUD4	4	146063397	Frame_Shift_Ins	INS	-	TCGA-BP-4968-01A-01D-1462-08	6080321	146063397	45090879	12	21287											
ADAM29	11086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	175896895	175896895	+	Silent	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr4:175896895G>A	ENST00000359240.3	+	5	889	c.219G>A	c.(217-219)ttG>ttA	p.L73L	ADAM29_ENST00000445694.1_Silent_p.L73L|ADAM29_ENST00000514159.1_Silent_p.L73L|ADAM29_ENST00000404450.4_Silent_p.L73L|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	73					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L73L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGAAGCTTTTGTTTTCCAAAC	0.493																																					Ovarian(140;1727 1835 21805 25838 41440)											1	Substitution - coding silent(1)	kidney(1)											47	46	46					4																	175896895		2203	4300	6503	SO:0001819	synonymous_variant	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.219G>A	4.37:g.175896895G>A			Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	CCDS3823.1																																																																																				0.493	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				A	175896895	G	A	175896895	2	1	383	1	0	0	0	0	0	0	0	1	247	1368	48	2		2	ADAM29	4	175896895	Silent	SNP	G	TCGA-BP-4968-01A-01D-1462-08	29833498	175896895	15257381	13	21288											
CDH12	1010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	21752149	21752149	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr5:21752149T>A	ENST00000382254.1	-	15	3168	c.2082A>T	c.(2080-2082)aaA>aaT	p.K694N	CDH12_ENST00000504376.2_Missense_Mutation_p.K694N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.K654N|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	694					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K694N(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGAGTCTGGTTTTATATCCC	0.453										HNSCC(59;0.17)																																						1	Substitution - Missense(1)	kidney(1)											209	181	190					5																	21752149		2203	4300	6503	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2082A>T	5.37:g.21752149T>A	ENSP00000371689:p.Lys694Asn		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337157	0.41398	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.77489	-1.1;-1.1;-1.1	5.12	2.71	0.32032	Cadherin, cytoplasmic domain (1);	0.044730	0.85682	D	0.000000	T	0.77857	0.4193	M	0.64997	1.995	0.47065	D	0.999305	P;D	0.56746	0.697;0.977	B;P	0.54060	0.407;0.741	T	0.71659	-0.4526	10	0.19590	T	0.45	.	7.7557	0.28923	0.0:0.2333:0.0:0.7667	.	654;694	B7Z2U6;P55289	.;CAD12_HUMAN	N	694;694;654	ENSP00000423577:K694N;ENSP00000371689:K694N;ENSP00000428786:K654N	ENSP00000371689:K694N	K	-	3	2	CDH12	21787906	0.993000	0.37304	1.000000	0.80357	0.981000	0.71138	0.244000	0.18124	0.299000	0.22661	0.383000	0.25322	AAA		0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		A	21752149	T	A	21752149	3	1	383	1	0	0	0	0	1	0	0	0	3100	1722	60	5	306	5	CDH12	5	21752149	Missense_Mutation	SNP	T	TCGA-BP-4968-01A-01D-1462-08		21752149	159163111	14	21289											
C5orf42	65250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37186442	37186442	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr5:37186442A>C	ENST00000508244.1	-	23	4228	c.4135T>G	c.(4135-4137)Tta>Gta	p.L1379V	C5orf42_ENST00000274258.7_Missense_Mutation_p.L260V|C5orf42_ENST00000425232.2_Missense_Mutation_p.L1379V			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1379						integral component of membrane (GO:0016021)		p.L1379V(1)|p.L260V(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGTCTCTTAAAGGAACCCTC	0.353																																																2	Substitution - Missense(2)	kidney(2)											118	118	118					5																	37186442		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4135T>G	5.37:g.37186442A>C	ENSP00000421690:p.Leu1379Val		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002015	0.74932	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.36878	1.35;1.35;1.23;1.25	5.31	2.87	0.33458	.	0.000000	0.49916	D	0.000139	T	0.20495	0.0493	N	0.14661	0.345	0.29559	N	0.850779	P;P	0.41041	0.736;0.736	B;B	0.42771	0.275;0.397	T	0.06716	-1.0811	10	0.35671	T	0.21	.	4.1977	0.10452	0.5593:0.1682:0.2725:0.0	.	1379;260	E9PH94;Q9H799	.;CE042_HUMAN	V	1379;1379;260;427;260	ENSP00000421690:L1379V;ENSP00000389014:L1379V;ENSP00000274258:L260V;ENSP00000424223:L427V	ENSP00000274258:L260V	L	-	1	2	C5orf42	37222199	0.581000	0.26741	0.988000	0.46212	0.854000	0.48673	0.900000	0.28431	0.391000	0.25143	0.533000	0.62120	TTA		0.353	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		C	37186442	A	C	37186442	3	2	383	1	0	0	0	0	1	0	0	0	2303	11	1	5	5574	5	C5orf42	5	37186442	Missense_Mutation	SNP	A	TCGA-BP-4968-01A-01D-1462-08	15434293	37186442	143728818	15	21290											
AQPEP	206338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	115323525	115323525	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr5:115323525C>T	ENST00000357872.4	+	4	1118	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		332						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R332W(1)									CATCTGGGCCCGGAAAGATGC	0.418																																																1	Substitution - Missense(1)	kidney(1)											139	131	134					5																	115323525		2202	4300	6502	SO:0001583	missense	206338																														ENST00000357872.4:c.994C>T	5.37:g.115323525C>T	ENSP00000350541:p.Arg332Trp		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323835	0.60634	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.03124	4.04	5.14	5.14	0.70334	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.353012	0.24271	N	0.039991	T	0.19208	0.0461	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00143	-1.1996	10	0.87932	D	0	.	11.6419	0.51237	0.0:0.9131:0.0:0.0869	.	332	Q6Q4G3	AMPQ_HUMAN	W	332;321	ENSP00000350541:R332W	ENSP00000350541:R332W	R	+	1	2	AC010282.1	115351424	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.097000	0.50251	2.374000	0.81015	0.563000	0.77884	CGG		0.418	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			T	115323525	C	T	115323525	3	4	383	1	0	0	0	0	1	0	0	0	834	643	23	1	1008	1	AQPEP	5	115323525	Missense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08	78137083	115323525	65591735	16	21291											
HIST1H2BC	8347	hgsc.bcm.edu	37	6	26124127	26124127	+	Silent	SNP	A	A	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr6:26124127A>G	ENST00000314332.5	-	1	11	c.6T>C	c.(4-6)ccT>ccC	p.P2P	HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2BC_ENST00000396984.1_Silent_p.P2P|HIST1H2AC_ENST00000602637.1_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	2					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P2P(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TGGCTGGCTCAGGCATCTTAA	0.502																																																1	Substitution - coding silent(1)	kidney(1)											72	73	73					6																	26124127		2203	4300	6503	SO:0001819	synonymous_variant	8347			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.6T>C	6.37:g.26124127A>G			P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000314332.5	37	CCDS4584.1																																																																																				0.502	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		G	26124127	A	G	26124127	2	3	383	1	0	0	0	0	0	0	0	1	7144	175	7	3		3	HIST1H2BC	6	26124127	Silent	SNP	A	TCGA-BP-4968-01A-01D-1462-08		26124127	144990940	17	21292											
ORC5L	5001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	103777250	103777250	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr7:103777250C>G	ENST00000297431.4	-	13	1382	c.1240G>C	c.(1240-1242)Gac>Cac	p.D414H	ORC5_ENST00000545943.1_Missense_Mutation_p.D282H	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	414					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.D414H(1)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTGATGAAGTCTAGAGACACT	0.358																																																1	Substitution - Missense(1)	kidney(1)											111	105	107					7																	103777250		2203	4300	6503	SO:0001583	missense	5001				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 117"	602331	"origin recognition complex, subunit 5 (yeast homolog)-like", "origin recognition complex, subunit 5-like (yeast)", "origin recognition complex, subunit 5 homolog (yeast)"	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.1240G>C	7.37:g.103777250C>G	ENSP00000297431:p.Asp414His		A4D0P8|O60590|O95268	Missense_Mutation	SNP	ENST00000297431.4	37	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738136	0.89573	.	.	ENSG00000164815	ENST00000297431;ENST00000545943	T;T	0.52295	1.69;0.67	5.65	5.65	0.86999	.	0.043274	0.85682	D	0.000000	T	0.70245	0.3202	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.72104	-0.4391	10	0.87932	D	0	.	20.073	0.97731	0.0:1.0:0.0:0.0	.	414	O43913	ORC5_HUMAN	H	414;282	ENSP00000297431:D414H;ENSP00000438018:D282H	ENSP00000297431:D414H	D	-	1	0	ORC5	103564486	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	7.015000	0.76387	2.811000	0.96726	0.655000	0.94253	GAC		0.358	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		G	103777250	C	G	103777250	3	3	383	1	0	0	0	0	1	0	0	0	11267	913	32	4	75	4	ORC5L	7	103777250	Missense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08		103777250	55361413	18	21293											
NRCAM	4897	hgsc.bcm.edu;ucsc.edu	37	7	107834765	107834766	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr7:107834765_107834766insTA	ENST00000425651.2	-	13	1569_1570	c.1570_1571insTA	c.(1570-1572)acgfs	p.T524fs	NRCAM_ENST00000379028.3_Frame_Shift_Ins_p.T524fs|NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.T505fs|NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.T505fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.T524fs|NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.T518fs	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	524	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.T518R(1)|p.T524R(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TGCAACACACGTATAAGTTCCT	0.356																																																2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1569_1570dupTA	7.37:g.107834768_107834769dupTA	ENSP00000401244:p.Thr524fs		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Frame_Shift_Ins	INS	ENST00000425651.2	37	CCDS47686.1																																																																																				0.356	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		TA	107834766	-	TA	107834765	7	5	383	1	0	1	1	0	0	0	0	0	10646	1145	40	0	2445	0	NRCAM	7	107834765	Frame_Shift_Ins	INS	-	TCGA-BP-4968-01A-01D-1462-08	4057515	107834765	51303898	19	21294											
ZNF800	168850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127013721	127013721	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr7:127013721C>G	ENST00000393313.1	-	5	2260	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	ZNF800_ENST00000393312.1_Missense_Mutation_p.E557Q|ZNF800_ENST00000265827.3_Missense_Mutation_p.E557Q|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E557Q(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GCTCTGATCTCTAAACTGGCT	0.363																																																2	Substitution - Missense(2)	kidney(2)											76	79	78					7																	127013721		2202	4300	6502	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1669G>C	7.37:g.127013721C>G	ENSP00000376989:p.Glu557Gln		Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180182	0.57800	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.15603	2.41;2.41;2.41	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	N	0.08118	0	0.31407	N	0.6759649999999999	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.28996	-1.0026	8	.	.	.	-0.0028	18.8226	0.92103	0.0:1.0:0.0:0.0	.	460;557	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Q	557	ENSP00000376989:E557Q;ENSP00000265827:E557Q;ENSP00000376988:E557Q	.	E	-	1	0	ZNF800	126800957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.692000	0.91855	0.655000	0.94253	GAG		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		G	127013721	C	G	127013721	3	3	383	1	0	0	0	0	1	0	0	0	18174	922	32	4	333	4	ZNF800	7	127013721	Missense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08	19178956	127013721	32124942	20	21295											
ATP6V1B2	526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	20077883	20077883	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr8:20077883A>T	ENST00000276390.2	+	14	1546	c.1506A>T	c.(1504-1506)gaA>gaT	p.E502D		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	502					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.E502D(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	CCCTCAGCGAATTTTACCCTC	0.463																																					Pancreas(119;1230 1726 3901 4036 31644)											1	Substitution - Missense(1)	kidney(1)											78	76	77					8																	20077883		2203	4300	6503	SO:0001583	missense	526			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1506A>T	8.37:g.20077883A>T	ENSP00000276390:p.Glu502Asp		B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321032	0.60634	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	D	0.83673	-1.75	5.54	-4.04	0.04010	.	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	M	0.78344	2.41	0.58432	D	0.999998	B	0.06786	0.001	B	0.23852	0.049	T	0.69254	-0.5193	10	0.66056	D	0.02	-36.922	14.4119	0.67119	0.4017:0.0:0.5983:0.0	.	502	P21281	VATB2_HUMAN	D	502;376	ENSP00000276390:E502D	ENSP00000276390:E502D	E	+	3	2	ATP6V1B2	20122163	1.000000	0.71417	0.958000	0.39756	0.885000	0.51271	0.897000	0.28390	-0.657000	0.05373	-0.376000	0.06991	GAA		0.463	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		T	20077883	A	T	20077883	3	4	383	1	0	0	0	0	1	0	0	0	1179	98	4	5	1560	5	ATP6V1B2	8	20077883	Missense_Mutation	SNP	A	TCGA-BP-4968-01A-01D-1462-08		20077883	126286139	21	21296											
SECISBP2	79048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	91972394	91972394	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr9:91972394G>A	ENST00000375807.3	+	15	2253	c.2182G>A	c.(2182-2184)Gct>Act	p.A728T	SECISBP2_ENST00000534113.2_Missense_Mutation_p.A660T|SECISBP2_ENST00000339901.4_Missense_Mutation_p.A655T	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	728					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.A728T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CTTTGTGTTTGCTCTCAACCG	0.498																																																1	Substitution - Missense(1)	kidney(1)											254	233	240					9																	91972394		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2182G>A	9.37:g.91972394G>A	ENSP00000364965:p.Ala728Thr		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499462	0.96355	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.58210	0.35;0.35;0.35	4.53	4.53	0.55603	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	M	0.84948	2.725	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80806	-0.1218	10	0.72032	D	0.01	-16.4737	17.7957	0.88570	0.0:0.0:1.0:0.0	.	735;655;728	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	T	728;734;655;660	ENSP00000364965:A728T;ENSP00000364959:A655T;ENSP00000436650:A660T	ENSP00000364959:A655T	A	+	1	0	SECISBP2	91162214	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	9.652000	0.98499	2.506000	0.84524	0.555000	0.69702	GCT		0.498	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		A	91972394	G	A	91972394	3	1	383	1	0	0	0	0	1	0	0	0	14012	1319	46	2	2240	2	SECISBP2	9	91972394	Missense_Mutation	SNP	G	TCGA-BP-4968-01A-01D-1462-08		91972394	49241037	22	21297											
ABCA2	20	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139906470	139906470	+	Splice_Site	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr9:139906470C>T	ENST00000371605.3	-	34	5505	c.5358G>A	c.(5356-5358)ctG>ctA	p.L1786L	ABCA2_ENST00000341511.6_Splice_Site_p.L1787L|ABCA2_ENST00000265662.5_Splice_Site_p.L1787L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1786					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.L1787L(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGCCCTGCAGCCTGGGGCAAG	0.632																																																1	Substitution - coding silent(1)	kidney(1)											72	82	79					9																	139906470		2166	4254	6420	SO:0001630	splice_region_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5358-1G>A	9.37:g.139906470C>T			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37																																																																																					0.632	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606	Silent	T	139906470	C	T	139906470	5	4	383	1	0	0	0	0	0	0	1	0	32	753	26	2	2009	2	ABCA2	9	139906470	Splice_Site	SNP	C	TCGA-BP-4968-01A-01D-1462-08	47934076	139906470	1306961	23	21298											
MARCH8	220972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	45959707	45959707	+	Silent	SNP	T	T	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr10:45959707T>A	ENST00000319836.3	-	4	971	c.222A>T	c.(220-222)ccA>ccT	p.P74P	MARCH8_ENST00000453424.2_Silent_p.P74P|MARCH8_ENST00000395769.2_Silent_p.P74P|MARCH8_ENST00000476962.1_5'Flank|MARCH8_ENST00000395771.3_Silent_p.P74P	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	74					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P74P(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CCTGGCTGGATGGCGTGATAG	0.532																																					NSCLC(102;658 1594 2173 16344 34808)											1	Substitution - coding silent(1)	kidney(1)											148	126	134					10																	45959707		2203	4300	6503	SO:0001819	synonymous_variant	220972			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	23356	protein-coding gene	gene with protein product		613335	"c-mir, cellular modulator of immune recognition", "membrane-associated ring finger (C3HC4) 8"	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.222A>T	10.37:g.45959707T>A			B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Silent	SNP	ENST00000319836.3	37	CCDS7213.1																																																																																				0.532	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		A	45959707	T	A	45959707	2	1	383	1	0	0	0	0	0	0	0	1	9309	1451	51	5		5	MARCH8	10	45959707	Silent	SNP	T	TCGA-BP-4968-01A-01D-1462-08		45959707	89575040	24	21299											
ADAMTS14	140766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	72493772	72493772	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr10:72493772G>A	ENST00000373207.1	+	8	1340	c.1340G>A	c.(1339-1341)aGc>aAc	p.S447N	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.S450N	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	447	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S450N(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTGGAGCTCAGCCGCTACCTC	0.642																																																1	Substitution - Missense(1)	kidney(1)											62	55	57					10																	72493772		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1340G>A	10.37:g.72493772G>A	ENSP00000362303:p.Ser447Asn		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310501	0.23821	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.86694	-2.16;-2.16	3.79	2.87	0.33458	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.113338	0.56097	D	0.000023	T	0.69548	0.3123	N	0.10707	0.03	0.33337	D	0.569418	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	T	0.67921	-0.5545	10	0.46703	T	0.11	.	3.8507	0.08954	0.3586:0.0:0.6414:0.0	.	447;450	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	N	450;447	ENSP00000362304:S450N;ENSP00000362303:S447N	ENSP00000362303:S447N	S	+	2	0	ADAMTS14	72163778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.132000	0.64758	2.117000	0.64856	0.462000	0.41574	AGC		0.642	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		A	72493772	G	A	72493772	3	1	383	1	0	0	0	0	1	0	0	0	259	971	34	2	1379	2	ADAMTS14	10	72493772	Missense_Mutation	SNP	G	TCGA-BP-4968-01A-01D-1462-08	26534065	72493772	63040975	25	21300											
PDE3B	5140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	14852297	14852297	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr11:14852297C>A	ENST00000282096.4	+	8	2214	c.1861C>A	c.(1861-1863)Caa>Aaa	p.Q621K	PDE3B_ENST00000455098.2_Missense_Mutation_p.Q570K	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	621					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.Q621K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GGAAACTCAACAAGAAGAGGA	0.328																																																1	Substitution - Missense(1)	kidney(1)											88	92	90					11																	14852297		2200	4294	6494	SO:0001583	missense	5140			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1861C>A	11.37:g.14852297C>A	ENSP00000282096:p.Gln621Lys		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623204	0.28889	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.60920	0.15;0.15	4.34	4.34	0.51931	.	.	.	.	.	T	0.40570	0.1122	N	0.22421	0.69	0.20074	N	0.999938	B;B	0.12013	0.001;0.005	B;B	0.08055	0.001;0.003	T	0.09530	-1.0670	9	0.06365	T	0.9	.	14.3533	0.66719	0.0:1.0:0.0:0.0	.	570;621	B7ZM37;Q13370	.;PDE3B_HUMAN	K	621;570	ENSP00000282096:Q621K;ENSP00000388644:Q570K	ENSP00000282096:Q621K	Q	+	1	0	PDE3B	14808873	0.853000	0.29707	0.830000	0.32933	0.856000	0.48823	1.506000	0.35747	2.124000	0.65301	0.591000	0.81541	CAA		0.328	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		A	14852297	C	A	14852297	3	1	383	1	0	0	0	0	1	0	0	0	11640	479	17	4	1891	4	PDE3B	11	14852297	Missense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08		14852297	120154219	26	21301											
SLC22A6	9356	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62744739	62744739	+	Silent	SNP	A	A	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr11:62744739A>G	ENST00000377871.3	-	9	1748	c.1482T>C	c.(1480-1482)ccT>ccC	p.P494P	SLC22A6_ENST00000360421.4_Silent_p.P494P|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	494					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.P494P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGGCGGCCACAGGAACAGCAC	0.652																																																1	Substitution - coding silent(1)	kidney(1)											82	75	77					11																	62744739		2201	4298	6499	SO:0001819	synonymous_variant	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1482T>C	11.37:g.62744739A>G			A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	CCDS31591.1																																																																																				0.652	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		G	62744739	A	G	62744739	2	3	383	1	0	0	0	0	0	0	0	1	14464	175	7	3		3	SLC22A6	11	62744739	Silent	SNP	A	TCGA-BP-4968-01A-01D-1462-08	47892442	62744739	72261777	27	21302											
FAM168A	23201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73130927	73130927	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr11:73130927G>A	ENST00000064778.4	-	5	580	c.296C>T	c.(295-297)gCg>gTg	p.A99V	FAM168A_ENST00000356467.4_Missense_Mutation_p.A90V|FAM168A_ENST00000450446.2_Missense_Mutation_p.A90V			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	99								p.A90V(1)		endometrium(3)|kidney(1)|lung(1)	5						ACTGAAAGCCGCAGAGGATGC	0.502																																																1	Substitution - Missense(1)	kidney(1)											105	108	107					11																	73130927		1928	4119	6047	SO:0001583	missense	23201			BC014932	CCDS41689.1, CCDS66165.1, CCDS73346.1	11q13.4	2008-06-11	2008-06-11	2008-06-11		ENSG00000054965			28999	protein-coding gene	gene with protein product	"tongue cancer chemotherapy resistance-associated protein 1"		"KIAA0280"	KIAA0280			Standard	XM_005273852		Approved	TCRP1	uc001oty.1	Q92567		ENST00000064778.4:c.296C>T	11.37:g.73130927G>A	ENSP00000064778:p.Ala99Val		A2ICY2|A2ID81|Q86UG2	Missense_Mutation	SNP	ENST00000064778.4	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.132050	0.77662	.	.	ENSG00000054965	ENST00000064778;ENST00000450446;ENST00000356467	.	.	.	5.45	5.45	0.79879	.	0.239064	0.41938	D	0.000798	T	0.41442	0.1159	L	0.29908	0.895	0.52099	D	0.999943	P;B;B	0.51653	0.947;0.21;0.13	B;B;B	0.38225	0.268;0.064;0.064	T	0.32719	-0.9896	9	0.33141	T	0.24	.	18.6344	0.91371	0.0:0.0:1.0:0.0	.	90;99;90	Q92567-3;Q92567;Q92567-2	.;F168A_HUMAN;.	V	99;90;90	.	ENSP00000064778:A99V	A	-	2	0	FAM168A	72808575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.812000	0.86109	2.716000	0.92895	0.655000	0.94253	GCG		0.502	FAM168A-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000397424.1	NM_015159		A	73130927	G	A	73130927	3	1	383	1	0	0	0	0	1	0	0	0	5487	1087	38	1	454	1	FAM168A	11	73130927	Missense_Mutation	SNP	G	TCGA-BP-4968-01A-01D-1462-08	10386188	73130927	61875589	28	21303											
APOBEC1	339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7807218	7807218	+	Silent	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr12:7807218G>A	ENST00000229304.4	-	2	47	c.27C>T	c.(25-27)acC>acT	p.T9T		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	9					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T9T(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGGGGTCACCGGTTGAAGGAC	0.393																																					Pancreas(135;929 1826 4531 10527 41012)											1	Substitution - coding silent(1)	kidney(1)											116	112	113					12																	7807218		2203	4300	6503	SO:0001819	synonymous_variant	339			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.27C>T	12.37:g.7807218G>A			Q9UE64|Q9UM71	Silent	SNP	ENST00000229304.4	37	CCDS8579.1																																																																																				0.393	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		A	7807218	G	A	7807218	2	1	383	1	0	0	0	0	0	0	0	1	787	1103	39	1		1	APOBEC1	12	7807218	Silent	SNP	G	TCGA-BP-4968-01A-01D-1462-08		7807218	126044677	29	21304											
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53673565	53673565	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr12:53673565G>T	ENST00000257934.4	+	12	2505	c.2414G>T	c.(2413-2415)aGa>aTa	p.R805I	ESPL1_ENST00000552462.1_Missense_Mutation_p.R805I	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	805					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.R805I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTCTCTGAGAGACTGAAGGAC	0.597																																					Colon(53;1069 1201 2587 5382)											1	Substitution - Missense(1)	kidney(1)											107	101	103					12																	53673565		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2414G>T	12.37:g.53673565G>T	ENSP00000257934:p.Arg805Ile			Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	5.040	0.193037	0.09599	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12147	2.71;2.71	5.08	-0.237	0.13061	.	0.847402	0.11071	N	0.602905	T	0.11623	0.0283	M	0.68317	2.08	0.09310	N	1	P;B	0.37276	0.589;0.026	B;B	0.30943	0.122;0.009	T	0.18903	-1.0322	10	0.37606	T	0.19	.	4.7046	0.12844	0.3684:0.326:0.3056:0.0	.	16;805	B4DRU1;Q14674	.;ESPL1_HUMAN	I	805;480;805	ENSP00000257934:R805I;ENSP00000449831:R805I	ENSP00000257934:R805I	R	+	2	0	ESPL1	51959832	0.529000	0.26322	0.051000	0.19133	0.049000	0.14656	0.466000	0.22019	0.049000	0.15920	-0.262000	0.10625	AGA		0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		T	53673565	G	T	53673565	3	4	383	1	0	0	0	0	1	0	0	0	5255	942	33	4	2456	4	ESPL1	12	53673565	Missense_Mutation	SNP	G	TCGA-BP-4968-01A-01D-1462-08	45866347	53673565	80178330	30	21305											
SIRT4	23409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120741603	120741603	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr12:120741603G>T	ENST00000202967.4	+	2	298	c.239G>T	c.(238-240)gGg>gTg	p.G80V		NM_012240.2	NP_036372.1			sirtuin 4									p.G80V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAAAAGTGGGGCTTTATGCC	0.562																																																1	Substitution - Missense(1)	kidney(1)											63	60	61					12																	120741603		2203	4300	6503	SO:0001583	missense	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.239G>T	12.37:g.120741603G>T	ENSP00000202967:p.Gly80Val			Missense_Mutation	SNP	ENST00000202967.4	37	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647860	0.87958	.	.	ENSG00000089163	ENST00000536460;ENST00000202967	T;T	0.57907	0.37;0.37	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91878	0.5513	10	0.87932	D	0	-17.8642	19.5949	0.95533	0.0:0.0:1.0:0.0	.	80	Q9Y6E7	SIRT4_HUMAN	V	21;80	ENSP00000444838:G21V;ENSP00000202967:G80V	ENSP00000202967:G80V	G	+	2	0	SIRT4	119225986	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	9.540000	0.98080	2.709000	0.92574	0.644000	0.83932	GGG		0.562	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		T	120741603	G	T	120741603	3	4	383	1	0	0	0	0	1	0	0	0	14346	1232	43	4	241	4	SIRT4	12	120741603	Missense_Mutation	SNP	G	TCGA-BP-4968-01A-01D-1462-08	67068038	120741603	13110292	31	21306											
PNP	4860	broad.mit.edu;hgsc.bcm.edu	37	14	20940624	20940624	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr14:20940624C>T	ENST00000361505.5	+	2	315	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.P57S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CCCCAACTTTCCCCGAAGTAC	0.478																																																1	Substitution - Missense(1)	kidney(1)											64	57	60					14																	20940624		2203	4300	6503	SO:0001583	missense	4860				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"nucleoside phosphorylase"	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.169C>T	14.37:g.20940624C>T	ENSP00000354532:p.Pro57Ser			Missense_Mutation	SNP	ENST00000361505.5	37	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257101	0.80246	.	.	ENSG00000198805	ENST00000553418;ENST00000361505;ENST00000553591	T;D;D	0.86627	-1.25;-2.15;-2.15	5.54	4.66	0.58398	Nucleoside phosphorylase domain (1);	0.099394	0.64402	N	0.000001	D	0.92358	0.7575	M	0.71871	2.18	0.80722	D	1	D;D;D	0.89917	0.998;0.994;1.0	D;D;D	0.97110	0.984;0.909;1.0	D	0.92966	0.6393	10	0.66056	D	0.02	-10.9765	13.5986	0.62004	0.0:0.9245:0.0:0.0755	.	57;57;57	Q8N7G1;G3V2H3;P00491	.;.;PNPH_HUMAN	S	57;57;96	ENSP00000450663:P57S;ENSP00000354532:P57S;ENSP00000452421:P96S	ENSP00000354532:P57S	P	+	1	0	PNP	20010464	1.000000	0.71417	0.993000	0.49108	0.798000	0.45092	4.393000	0.59665	1.577000	0.49804	0.655000	0.94253	CCC		0.478	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		T	20940624	C	T	20940624	3	4	383	1	0	0	0	0	1	0	0	0	12165	855	30	2	175	2	PNP	14	20940624	Missense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08		20940624	86408916	32	21307											
CDH24	64403	broad.mit.edu;hgsc.bcm.edu	37	14	23522709	23522709	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr14:23522709T>C	ENST00000267383.5	-	6	1314	c.1222A>G	c.(1222-1224)Atc>Gtc	p.I408V	CDH24_ENST00000397359.3_Missense_Mutation_p.I408V|CDH24_ENST00000554034.1_Missense_Mutation_p.I408V|CDH24_ENST00000487137.2_Missense_Mutation_p.I408V			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.I408V(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ACCTACCTGATTGGGCTGGCA	0.612																																																2	Substitution - Missense(2)	kidney(2)											21	20	20					14																	23522709		2200	4286	6486	SO:0001583	missense	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1222A>G	14.37:g.23522709T>C	ENSP00000267383:p.Ile408Val		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.318699	0.23994	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	0.068649	0.56097	D	0.000037	T	0.41026	0.1141	N	0.13327	0.33	0.49130	D	0.999755	P;P;P	0.45428	0.663;0.511;0.858	B;B;P	0.47528	0.26;0.401;0.549	T	0.20306	-1.0279	10	0.11182	T	0.66	.	14.5357	0.67958	0.0:0.0:0.0:1.0	.	408;408;408	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	V	408	ENSP00000380517:I408V;ENSP00000434821:I408V;ENSP00000452493:I408V;ENSP00000267383:I408V	ENSP00000267383:I408V	I	-	1	0	CDH24	22592549	0.996000	0.38824	0.934000	0.37439	0.993000	0.82548	2.680000	0.46918	2.263000	0.75096	0.533000	0.62120	ATC		0.612	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		C	23522709	T	C	23522709	3	2	383	1	0	0	0	0	1	0	0	0	3111	1493	52	3	1265	3	CDH24	14	23522709	Missense_Mutation	SNP	T	TCGA-BP-4968-01A-01D-1462-08	2582085	23522709	83826831	33	21308											
PAX9	5083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	37132609	37132609	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr14:37132609C>T	ENST00000361487.6	+	2	737	c.512C>T	c.(511-513)gCc>gTc	p.A171V	PAX9_ENST00000402703.2_Missense_Mutation_p.A171V|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	171	Interaction with KDM5B.				cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.A171V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GCGGCGGCCGCCAAGGTGCCC	0.682																																																1	Substitution - Missense(1)	kidney(1)											26	27	26					14																	37132609		2196	4294	6490	SO:0001583	missense	5083			AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"Paired boxes"	8623	protein-coding gene	gene with protein product		167416	"paired box gene 9"			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.512C>T	14.37:g.37132609C>T	ENSP00000355245:p.Ala171Val		Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177471	0.94846	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	D;D	0.98901	-5.22;-5.22	5.25	5.25	0.73442	.	0.051502	0.85682	D	0.000000	D	0.97179	0.9078	L	0.56769	1.78	0.58432	D	0.999995	P	0.35077	0.483	B	0.27887	0.084	D	0.97214	0.9873	10	0.51188	T	0.08	.	18.8295	0.92132	0.0:1.0:0.0:0.0	.	171	P55771	PAX9_HUMAN	V	171	ENSP00000384817:A171V;ENSP00000355245:A171V	ENSP00000355245:A171V	A	+	2	0	PAX9	36202360	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	6.065000	0.71176	2.445000	0.82738	0.561000	0.74099	GCC		0.682	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			T	37132609	C	T	37132609	3	4	383	1	0	0	0	0	1	0	0	0	11488	739	26	2	518	2	PAX9	14	37132609	Missense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08	13609900	37132609	70216931	34	21309											
RFX7	64864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56395867	56395867	+	Splice_Site	SNP	T	T	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr15:56395867T>A	ENST00000559447.2	-	5	383	c.112A>T	c.(112-114)Agc>Tgc	p.S38C	RFX7_ENST00000423270.1_Splice_Site_p.S135C|RFX7_ENST00000317318.6_Splice_Site_p.S135C|RFX7_ENST00000422057.1_Splice_Site_p.S38C			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	38					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S135C(1)|p.S38C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCACAATAGCTCCTGCAAAAG	0.398																																																2	Substitution - Missense(2)	kidney(2)											61	56	58					15																	56395867		1869	4097	5966	SO:0001630	splice_region_variant	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.111-1A>T	15.37:g.56395867T>A			Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.221498	0.79464	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	D;D;D	0.83755	-1.76;-1.76;-1.76	5.35	5.35	0.76521	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.88171	0.6365	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89341	0.3654	10	0.87932	D	0	-12.1815	14.8176	0.70048	0.0:0.0:0.0:1.0	.	38	Q2KHR2	RFX7_HUMAN	C	38;135;135	ENSP00000387504:S38C;ENSP00000313299:S135C;ENSP00000397644:S135C	ENSP00000313299:S135C	S	-	1	0	RFX7	54183159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.249000	0.72427	2.150000	0.67090	0.455000	0.32223	AGC		0.398	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841	Missense_Mutation	A	56395867	T	A	56395867	5	1	383	1	0	0	0	0	0	0	1	0	13274	1565	54	5	3999	5	RFX7	15	56395867	Splice_Site	SNP	T	TCGA-BP-4968-01A-01D-1462-08		56395867	46135525	35	21310											
HMG20A	10363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	77763256	77763256	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr15:77763256A>G	ENST00000381714.3	+	6	883	c.455A>G	c.(454-456)tAc>tGc	p.Y152C	HMG20A_ENST00000336216.4_Missense_Mutation_p.Y152C	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	152					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y152C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCCTAGCGCTACCTTGATGAA	0.358																																																1	Substitution - Missense(1)	kidney(1)											60	56	57					15																	77763256		2196	4294	6490	SO:0001583	missense	10363			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.455A>G	15.37:g.77763256A>G	ENSP00000371133:p.Tyr152Cys		A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248571	0.80024	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	D;D	0.99388	-5.81;-5.81	5.88	5.88	0.94601	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97978	1.0347	10	0.66056	D	0.02	-21.4581	16.2792	0.82664	1.0:0.0:0.0:0.0	.	152	Q9NP66	HM20A_HUMAN	C	152	ENSP00000336856:Y152C;ENSP00000371133:Y152C	ENSP00000336856:Y152C	Y	+	2	0	HMG20A	75550311	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.962000	0.93254	2.243000	0.73865	0.533000	0.62120	TAC		0.358	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		G	77763256	A	G	77763256	3	3	383	1	0	0	0	0	1	0	0	0	7223	391	14	3	469	3	HMG20A	15	77763256	Missense_Mutation	SNP	A	TCGA-BP-4968-01A-01D-1462-08	21367389	77763256	24768136	36	21311											
MYH2	4620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10432798	10432798	+	Splice_Site	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:10432798G>A	ENST00000245503.5	-	25	3502	c.3118C>T	c.(3118-3120)Ctt>Ttt	p.L1040F	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Splice_Site_p.L1040F|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1040					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)	p.L1040F(1)		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						GACCCTTCAAGCTAAATATAA	0.388																																																1	Substitution - Missense(1)	kidney(1)											123	118	120					17																	10432798		2203	4300	6503	SO:0001630	splice_region_variant	4620				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.3118-1C>T	17.37:g.10432798G>A			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744764	0.69418	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.96041	-3.89;-3.89	5.24	5.24	0.73138	.	0.000000	0.34959	U	0.003558	D	0.98648	0.9547	H	0.96748	3.875	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.99474	1.0946	10	0.87932	D	0	.	19.0151	0.92890	0.0:0.0:1.0:0.0	.	1040	Q9UKX2	MYH2_HUMAN	F	1040	ENSP00000245503:L1040F;ENSP00000380367:L1040F	ENSP00000245503:L1040F	L	-	1	0	MYH2	10373523	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.478000	0.81082	2.718000	0.92993	0.591000	0.81541	CTT		0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	Missense_Mutation	A	10432798	G	A	10432798	5	1	383	1	0	0	0	0	0	0	1	0	10037	985	34	2	2771	2	MYH2	17	10432798	Splice_Site	SNP	G	TCGA-BP-4968-01A-01D-1462-08		10432798	70762412	37	21312											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11845736	11845736	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:11845736T>A	ENST00000262442.4	+	67	12845	c.12777T>A	c.(12775-12777)tgT>tgA	p.C4259*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.C4183*|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Nonsense_Mutation_p.C571*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4259					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.C4259*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCAGGAGTGTGGCCGGATGA	0.532																																																1	Substitution - Nonsense(1)	kidney(1)											114	99	104					17																	11845736		2203	4300	6503	SO:0001587	stop_gained	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12777T>A	17.37:g.11845736T>A	ENSP00000262442:p.Cys4259*		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	52	19.437876	0.99919	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	.	.	.	4.86	0.0135	0.14096	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0217	0.42046	0.0:0.4045:0.0:0.5955	.	.	.	.	X	4259;4183;2765;571	.	ENSP00000262442:C4259X	C	+	3	2	DNAH9	11786461	0.984000	0.35163	0.440000	0.26846	0.162000	0.22319	0.145000	0.16157	-0.188000	0.10499	-0.464000	0.05259	TGT		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11845736	T	A	11845736	4	1	383	1	0	0	0	0	0	1	0	0	4610	1702	59	5	13043	5	DNAH9	17	11845736	Nonsense_Mutation	SNP	T	TCGA-BP-4968-01A-01D-1462-08	1412938	11845736	69349474	38	21313											
C17orf66	256957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34190556	34190556	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:34190556G>A	ENST00000311880.2	-	7	723	c.575C>T	c.(574-576)aCt>aTt	p.T192I	C17orf66_ENST00000587585.1_5'Flank|C17orf66_ENST00000592980.1_Missense_Mutation_p.T152I	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		192					hematopoietic progenitor cell differentiation (GO:0002244)			p.T192I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTCTGGACCAGTTTGGGCCTA	0.463																																																1	Substitution - Missense(1)	kidney(1)											139	124	129					17																	34190556		2203	4300	6503	SO:0001583	missense	256957																														ENST00000311880.2:c.575C>T	17.37:g.34190556G>A	ENSP00000309560:p.Thr192Ile		B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755005	0.31046	.	.	ENSG00000172653	ENST00000311880	T	0.49720	0.77	5.17	-0.697	0.11284	Armadillo-like helical (1);Armadillo-type fold (1);	0.516064	0.18059	N	0.153019	T	0.28167	0.0695	L	0.34521	1.04	0.09310	N	1	P;B;B	0.36909	0.573;0.017;0.437	B;B;B	0.36666	0.23;0.007;0.115	T	0.20042	-1.0287	10	0.72032	D	0.01	.	0.6178	0.00773	0.3005:0.1709:0.3532:0.1754	.	158;152;192	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	I	192	ENSP00000309560:T192I	ENSP00000309560:T192I	T	-	2	0	C17orf66	31214669	0.870000	0.30015	0.067000	0.19924	0.853000	0.48598	0.826000	0.27407	0.055000	0.16094	-0.181000	0.13052	ACT		0.463	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			A	34190556	G	A	34190556	3	1	383	1	0	0	0	0	1	0	0	0	1876	1029	36	2	1173	2	C17orf66	17	34190556	Missense_Mutation	SNP	G	TCGA-BP-4968-01A-01D-1462-08	22344820	34190556	47004654	39	21314											
ACLY	47	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40061042	40061042	+	Splice_Site	SNP	G	G	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:40061042G>T	ENST00000352035.2	-	10	1135	c.1005C>A	c.(1003-1005)ggC>ggA	p.G335G	ACLY_ENST00000590151.1_Splice_Site_p.G335G|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Splice_Site_p.G335G|ACLY_ENST00000353196.1_Splice_Site_p.G335G	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	335					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.G335G(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGAGGATCTTGCCTGGATTTG	0.473																																					Colon(64;807 1396 15971 30971)											1	Substitution - coding silent(1)	kidney(1)											105	91	96					17																	40061042		2203	4300	6503	SO:0001630	splice_region_variant	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1004-1C>A	17.37:g.40061042G>T			B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	CCDS11412.1																																																																																				0.473	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	Silent	T	40061042	G	T	40061042	5	4	383	1	0	0	0	0	0	0	1	0	143	1333	46	4	2380	4	ACLY	17	40061042	Splice_Site	SNP	G	TCGA-BP-4968-01A-01D-1462-08	5870486	40061042	41134168	40	21315											
KCNH4	23415	broad.mit.edu;ucsc.edu	37	17	40330118	40330118	+	Splice_Site	SNP	A	A	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:40330118A>G	ENST00000264661.3	-	4	917	c.585T>C	c.(583-585)aaT>aaC	p.N195N	KCNH4_ENST00000607371.1_Splice_Site_p.N195N	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	195					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.N195N(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGACTCACATTATTGGCCT	0.607																																					NSCLC(117;707 1703 2300 21308 31858)											1	Substitution - coding silent(1)	kidney(1)											83	92	89					17																	40330118		2203	4300	6503	SO:0001630	splice_region_variant	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.585+1T>C	17.37:g.40330118A>G				Silent	SNP	ENST00000264661.3	37	CCDS11420.1																																																																																				0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285	Silent	G	40330118	A	G	40330118	5	3	383	1	0	0	0	0	0	0	1	0	8036	231	8	3	2520	3	KCNH4	17	40330118	Splice_Site	SNP	A	TCGA-BP-4968-01A-01D-1462-08	269076	40330118	40865092	41	21316											
ABCA5	23461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	67302951	67302951	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:67302951A>T	ENST00000392676.3	-	6	767	c.703T>A	c.(703-705)Ttt>Att	p.F235I	ABCA5_ENST00000588877.1_Missense_Mutation_p.F235I|ABCA5_ENST00000392677.2_Missense_Mutation_p.F235I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	235					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F235I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATTGCCAAAAAGTATCCAAAA	0.299																																																1	Substitution - Missense(1)	kidney(1)											38	41	40					17																	67302951		2201	4296	6497	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.703T>A	17.37:g.67302951A>T	ENSP00000376443:p.Phe235Ile		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312514	0.81358	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.82711	-1.64;-1.64	5.13	5.13	0.70059	.	0.118121	0.39146	N	0.001443	D	0.85225	0.5648	L	0.56199	1.76	0.49798	D	0.999824	P;P	0.46457	0.726;0.878	B;P	0.52031	0.354;0.688	D	0.84704	0.0730	9	.	.	.	.	14.9434	0.71012	1.0:0.0:0.0:0.0	.	235;235	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	235	ENSP00000376444:F235I;ENSP00000376443:F235I	.	F	-	1	0	ABCA5	64814546	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.753000	0.85153	1.907000	0.55213	0.533000	0.62120	TTT		0.299	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		T	67302951	A	T	67302951	3	4	383	1	0	0	0	0	1	0	0	0	35	72	3	5	4361	5	ABCA5	17	67302951	Missense_Mutation	SNP	A	TCGA-BP-4968-01A-01D-1462-08	26972833	67302951	13892259	42	21317											
RNF213	57674	hgsc.bcm.edu;ucsc.edu	37	17	78343583	78343584	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:78343583_78343584insA	ENST00000582970.1	+	46	12484_12485	c.12341_12342insA	c.(12340-12345)acaaaafs	p.TK4114fs	RNF213_ENST00000336301.6_Frame_Shift_Ins_p.TK2187fs|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Frame_Shift_Ins_p.TK4163fs	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4114					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGTGAACACACAAAATCTCTCT	0.431																																																0																																										SO:0001589	frameshift_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12345dupA	17.37:g.78343587_78343587dupA	ENSP00000464087:p.Thr4114fs		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Ins	INS	ENST00000582970.1	37	CCDS58606.1																																																																																				0.431	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		A	78343584	-	A	78343583	7	5	383	1	0	1	1	0	0	0	0	0	13483	478	17	0	12838	0	RNF213	17	78343583	Frame_Shift_Ins	INS	-	TCGA-BP-4968-01A-01D-1462-08	11040632	78343583	2851627	43	21318											
XAB2	56949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7688070	7688070	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr19:7688070C>G	ENST00000358368.4	-	9	1262	c.1225G>C	c.(1225-1227)Gga>Cga	p.G409R	XAB2_ENST00000534844.1_Missense_Mutation_p.G406R	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	409					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G406R(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCCAGCTGTCCGTTGTCCTCA	0.522								Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	kidney(1)											177	142	154					19																	7688070		2203	4300	6503	SO:0001583	missense	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1225G>C	19.37:g.7688070C>G	ENSP00000351137:p.Gly409Arg		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096920	0.94197	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.11169	2.8;2.8	5.08	5.08	0.68730	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.065650	0.64402	D	0.000011	T	0.30198	0.0757	M	0.81341	2.54	0.80722	D	1	P	0.50819	0.939	P	0.54346	0.749	T	0.07195	-1.0785	10	0.72032	D	0.01	-54.9261	17.237	0.87001	0.0:1.0:0.0:0.0	.	409	Q9HCS7	SYF1_HUMAN	R	409;406	ENSP00000351137:G409R;ENSP00000438225:G406R	ENSP00000351137:G409R	G	-	1	0	XAB2	7594070	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.140000	0.77322	2.375000	0.81037	0.643000	0.83706	GGA		0.522	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		G	7688070	C	G	7688070	3	3	383	1	0	0	0	0	1	0	0	0	17423	661	23	4	1386	4	XAB2	19	7688070	Missense_Mutation	SNP	C	TCGA-BP-4968-01A-01D-1462-08		7688070	51440913	44	21319											
TSKS	60385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50266419	50266419	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr19:50266419G>A	ENST00000246801.3	-	1	168	c.86C>T	c.(85-87)tCc>tTc	p.S29F	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	29					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.S29F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GACTAGCTGGGAGCAGCTCTC	0.642																																																1	Substitution - Missense(1)	kidney(1)											66	71	69					19																	50266419		2203	4300	6503	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.86C>T	19.37:g.50266419G>A	ENSP00000246801:p.Ser29Phe		Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151282	0.21371	.	.	ENSG00000126467	ENST00000246801	T	0.34072	1.38	4.93	2.76	0.32466	.	1.574090	0.03982	N	0.293395	T	0.27524	0.0676	N	0.19112	0.55	0.58432	D	0.999999	B	0.32467	0.372	B	0.31337	0.128	T	0.02464	-1.1155	10	0.62326	D	0.03	-0.0341	7.848	0.29437	0.0896:0.1624:0.748:0.0	.	29	Q9UJT2	TSKS_HUMAN	F	29	ENSP00000246801:S29F	ENSP00000246801:S29F	S	-	2	0	TSKS	54958231	0.996000	0.38824	0.564000	0.28396	0.372000	0.29890	2.706000	0.47135	0.483000	0.27608	0.467000	0.42956	TCC		0.642	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		A	50266419	G	A	50266419	3	1	383	1	0	0	0	0	1	0	0	0	16631	1174	41	2	1736	2	TSKS	19	50266419	Missense_Mutation	SNP	G	TCGA-BP-4968-01A-01D-1462-08	42578349	50266419	8862564	45	21320											
MMP9	4318	hgsc.bcm.edu;ucsc.edu	37	20	44641977	44641977	+	Frame_Shift_Del	DEL	C	C	-	rs148151404	byFrequency	TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr20:44641977delC	ENST00000372330.3	+	9	1433	c.1414delC	c.(1414-1416)cccfs	p.P473fs	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	473					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCCCACCGGACCCCCCACTGT	0.706											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													32	44	40					20																	44641977		2191	4282	6473	SO:0001589	frameshift_variant	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1414delC	20.37:g.44641977delC	ENSP00000361405:p.Pro473fs	925	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Frame_Shift_Del	DEL	ENST00000372330.3	37	CCDS13390.1																																																																																				0.706	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			-	44641977	C	-	44641977	7	5	383	1	0	1	0	1	0	0	0	0	9671	507	18	0	1448	0	MMP9	20	44641977	Frame_Shift_Del	DEL	C	TCGA-BP-4968-01A-01D-1462-08		44641977	18383543	46	21321											
SYNJ1	8867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34099147	34099147	+	Silent	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr21:34099147G>A	ENST00000322229.7	-	1	59	c.60C>T	c.(58-60)ctC>ctT	p.L20L	SYNJ1_ENST00000382499.2_Silent_p.L59L|PAXBP1-AS1_ENST00000458479.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA|SYNJ1_ENST00000382491.3_Silent_p.L20L|SYNJ1_ENST00000357345.3_Silent_p.L20L|SYNJ1_ENST00000433931.2_Silent_p.L59L			O43426	SYNJ1_HUMAN	synaptojanin 1	20					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.L20L(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TTTCCACTATGAGGCTGAAAG	0.483																																																1	Substitution - coding silent(1)	kidney(1)											148	128	135					21																	34099147		2203	4300	6503	SO:0001819	synonymous_variant	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.60C>T	21.37:g.34099147G>A			O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1																																																																																				0.483	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				A	34099147	G	A	34099147	2	1	383	1	0	0	0	0	0	0	0	1	15457	1277	45	2		2	SYNJ1	21	34099147	Silent	SNP	G	TCGA-BP-4968-01A-01D-1462-08		34099147	14030748	47	21322											
SEZ6L	23544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	26693016	26693016	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr22:26693016G>A	ENST00000248933.6	+	4	1227	c.1132G>A	c.(1132-1134)Ggc>Agc	p.G378S	SEZ6L_ENST00000402979.1_Missense_Mutation_p.G151S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G151S|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G378S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G378S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G378S|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G378S			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	378	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.G378S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCAGGACGACGGCCTTGGGAC	0.567																																																1	Substitution - Missense(1)	kidney(1)											45	40	41					22																	26693016		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1132G>A	22.37:g.26693016G>A	ENSP00000248933:p.Gly378Ser		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843145	0.32606	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.13	3.0	0.34707	CUB (5);	0.777699	0.10770	N	0.636175	T	0.16685	0.0401	L	0.50333	1.59	0.28140	N	0.929839	P;B;B;B;P;B;B	0.47962	0.903;0.226;0.118;0.372;0.746;0.226;0.141	B;B;B;B;B;B;B	0.40038	0.317;0.076;0.034;0.046;0.156;0.076;0.076	T	0.09292	-1.0681	10	0.28530	T	0.3	.	10.7178	0.46023	0.1573:0.0:0.8427:0.0	.	378;378;151;378;378;378;378	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	S	378;378;378;378;378;151;151	ENSP00000384772:G378S;ENSP00000437037:G378S;ENSP00000354185:G378S;ENSP00000248933:G378S;ENSP00000342661:G378S;ENSP00000384838:G151S;ENSP00000384733:G151S	ENSP00000248933:G378S	G	+	1	0	SEZ6L	25023016	0.961000	0.32948	0.004000	0.12327	0.986000	0.74619	4.113000	0.57851	0.533000	0.28675	0.561000	0.74099	GGC		0.567	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			A	26693016	G	A	26693016	3	1	383	1	0	0	0	0	1	0	0	0	14149	1116	39	1	1146	1	SEZ6L	22	26693016	Missense_Mutation	SNP	G	TCGA-BP-4968-01A-01D-1462-08		26693016	24611550	48	21323											
EPHA8	2046	broad.mit.edu;hgsc.bcm.edu	37	1	22902833	22902833	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr1:22902833C>T	ENST00000166244.3	+	3	355	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	EPHA8_ENST00000374644.4_Missense_Mutation_p.R95W|EPHA8_ENST00000538803.1_Missense_Mutation_p.R95W	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	95	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R95W(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGACGGCGCCCGGCGCGTCTA	0.607																																																2	Substitution - Missense(2)	kidney(2)											60	61	61					1																	22902833		2203	4300	6503	SO:0001583	missense	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.283C>T	1.37:g.22902833C>T	ENSP00000166244:p.Arg95Trp		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206186	0.58343	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.10288	2.89;2.89;2.89	4.29	3.34	0.38264	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.24812	0.0602	L	0.50333	1.59	0.51012	D	0.999903	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.963	T	0.00797	-1.1562	10	0.87932	D	0	.	11.7955	0.52098	0.1836:0.8163:0.0:0.0	.	95;95	P29322;P29322-2	EPHA8_HUMAN;.	W	95	ENSP00000166244:R95W;ENSP00000363775:R95W;ENSP00000440274:R95W	ENSP00000166244:R95W	R	+	1	2	EPHA8	22775420	0.286000	0.24305	0.997000	0.53966	0.653000	0.38743	2.046000	0.41260	0.950000	0.37743	0.442000	0.29010	CGG		0.607	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		T	22902833	C	T	22902833	3	4	384	1	0	0	0	0	1	0	0	0	5175	643	23	1	293	1	EPHA8	1	22902833	Missense_Mutation	SNP	C	TCGA-BP-4970-01A-01D-1462-08		22902833	226347788	1	21324											
POGZ	23126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151380970	151380970	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr1:151380970G>T	ENST00000271715.2	-	14	2463	c.2149C>A	c.(2149-2151)Ccg>Acg	p.P717T	POGZ_ENST00000531094.1_Missense_Mutation_p.P655T|POGZ_ENST00000392723.1_Missense_Mutation_p.P664T|POGZ_ENST00000368863.2_Missense_Mutation_p.P622T|POGZ_ENST00000409503.1_Missense_Mutation_p.P708T|POGZ_ENST00000361398.3_Missense_Mutation_p.P664T|POGZ_ENST00000491586.1_Missense_Mutation_p.P673T|POGZ_ENST00000540984.1_Missense_Mutation_p.P79T	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	717					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P717T(1)|p.P673T(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGTCAGCGGTGCTGCCTCC	0.567																																																2	Substitution - Missense(2)	kidney(2)											67	68	68					1																	151380970		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2149C>A	1.37:g.151380970G>T	ENSP00000271715:p.Pro717Thr		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934865	0.34189	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T;T	0.32023	5.82;5.85;5.82;5.79;5.83;5.83;1.88;5.32;1.47	5.07	3.17	0.36434	.	0.231004	0.31092	N	0.008274	T	0.07324	0.0185	N	0.19112	0.55	0.28012	N	0.93486	B;B;B;B;B;B	0.20988	0.012;0.012;0.05;0.05;0.02;0.012	B;B;B;B;B;B	0.26770	0.01;0.015;0.033;0.073;0.05;0.01	T	0.29181	-1.0020	10	0.33141	T	0.24	-5.3565	8.171	0.31254	0.0859:0.1578:0.7564:0.0	.	655;708;622;673;664;717	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	T	664;717;664;622;708;655;79;673;117	ENSP00000376484:P664T;ENSP00000271715:P717T;ENSP00000354467:P664T;ENSP00000357856:P622T;ENSP00000386836:P708T;ENSP00000431259:P655T;ENSP00000443547:P79T;ENSP00000418408:P673T;ENSP00000432295:P117T	ENSP00000271715:P717T	P	-	1	0	POGZ	149647594	1.000000	0.71417	0.644000	0.29465	0.955000	0.61496	4.284000	0.58983	0.706000	0.31912	0.655000	0.94253	CCG		0.567	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		T	151380970	G	T	151380970	3	4	384	1	0	0	0	0	1	0	0	0	12188	1261	44	4	2107	4	POGZ	1	151380970	Missense_Mutation	SNP	G	TCGA-BP-4970-01A-01D-1462-08	128478137	151380970	97869651	2	21325											
NT5C1B	93034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	18757590	18757590	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr2:18757590A>G	ENST00000359846.2	-	9	1446	c.1369T>C	c.(1369-1371)Tac>Cac	p.Y457H	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.Y457H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.Y457H|NT5C1B_ENST00000304081.4_Missense_Mutation_p.Y397H	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	457					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.Y457H(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GTGTCACAGTAAGCCATGTCT	0.448																																																1	Substitution - Missense(1)	kidney(1)											106	96	99					2																	18757590		2203	4300	6503	SO:0001583	missense	93034			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1369T>C	2.37:g.18757590A>G	ENSP00000352904:p.Tyr457His		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.76|13.76	2.332034|2.332034	0.41297|0.41297	.|.	.|.	ENSG00000185013|ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000418427|ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	.|D	.|0.89415	.|-2.51	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.257704	.|0.39909	.|N	.|0.001228	D|D	0.89921|0.89921	0.6855|0.6855	L|L	0.39633|0.39633	1.23|1.23	0.33922|0.33922	D|D	0.640957|0.640957	.|D;D;D;P;D;D;D;D	.|0.76494	.|0.995;0.995;0.997;0.467;0.999;0.994;0.995;0.998	.|D;D;D;B;D;D;D;D	.|0.72338	.|0.95;0.95;0.95;0.356;0.977;0.916;0.95;0.953	D|D	0.89338|0.89338	0.3652|0.3652	5|10	.|0.19590	.|T	.|0.45	-10.5471|-10.5471	10.1766|10.1766	0.42941|0.42941	0.9254:0.0:0.0746:0.0|0.9254:0.0:0.0746:0.0	.|.	.|440;474;397;440;399;397;457;457	.|E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.|.;.;.;.;.;.;5NT1B_HUMAN;.	S|H	111|457;399;397;457	.|ENSP00000412639:Y399H	.|ENSP00000305979:Y397H	L|Y	-|-	2|1	0|0	NT5C1B|NT5C1B-RDH14;NT5C1B	18621071|18621071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.867000|4.867000	0.63013|0.63013	2.189000|2.189000	0.69895|0.69895	0.533000|0.533000	0.62120|0.62120	TTA|TAC		0.448	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			G	18757590	A	G	18757590	3	3	384	1	0	0	0	0	1	0	0	0	10688	362	13	3	471	3	NT5C1B	2	18757590	Missense_Mutation	SNP	A	TCGA-BP-4970-01A-01D-1462-08		18757590	224441783	3	21326											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188321	10188321	+	Splice_Site	SNP	G	G	T	rs5030814	byFrequency	TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr3:10188321G>T	ENST00000256474.2	+	2	1303		c.e2+1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(13)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACACTGCCAGGTACTGACGTT	0.403		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	13	Unknown(13)	kidney(12)|endometrium(1)	GRCh37	CS004297|CS961708	VHL	S	rs5030814						166	158	161					3																	10188321		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.463+1G>T	3.37:g.10188321G>T			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561929	0.65538	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4002	0.74834	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163321	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.278000	0.78587	2.310000	0.77875	0.462000	0.41574	.		0.403	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	T	10188321	G	T	10188321	5	4	384	1	0	0	0	0	0	0	1	0	17167	1275	44	4	470	4	VHL	3	10188321	Splice_Site	SNP	G	TCGA-BP-4970-01A-01D-1462-08		10188321	187834109	4	21327											
ZBTB38	253461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141161609	141161609	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr3:141161609T>C	ENST00000514251.1	+	4	658	c.379T>C	c.(379-381)Ttc>Ctc	p.F127L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.F128L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.F127L					zinc finger and BTB domain containing 38									p.F127L(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGATCGCAACTTCTCAAATTC	0.423																																																1	Substitution - Missense(1)	kidney(1)											67	63	64					3																	141161609		1863	4105	5968	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.379T>C	3.37:g.141161609T>C	ENSP00000426387:p.Phe127Leu			Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903234	0.33628	.	.	ENSG00000177311	ENST00000509842;ENST00000509883;ENST00000514251;ENST00000510338;ENST00000441582;ENST00000321464;ENST00000510726	T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.27	4.11	0.48088	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (1);	0.419726	0.25922	N	0.027425	T	0.18341	0.0440	N	0.00347	-1.61	0.09310	N	1	P;P	0.35656	0.514;0.514	B;B	0.32090	0.14;0.14	T	0.04537	-1.0944	10	0.31617	T	0.26	-35.2562	6.6624	0.23022	0.1378:0.0751:0.0:0.7871	.	128;127	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	127;127;127;127;127;128;127	ENSP00000426931:F127L;ENSP00000424254:F127L;ENSP00000426387:F127L;ENSP00000425705:F127L;ENSP00000406955:F127L;ENSP00000372635:F128L;ENSP00000422081:F127L	ENSP00000372635:F128L	F	+	1	0	ZBTB38	142644299	1.000000	0.71417	0.996000	0.52242	0.680000	0.39746	2.049000	0.41288	2.116000	0.64780	0.482000	0.46254	TTC		0.423	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			C	141161609	T	C	141161609	3	2	384	1	0	0	0	0	1	0	0	0	17544	1609	56	3	381	3	ZBTB38	3	141161609	Missense_Mutation	SNP	T	TCGA-BP-4970-01A-01D-1462-08	130973288	141161609	56860821	5	21328											
PROM1	8842	broad.mit.edu	37	4	16020105	16020105	+	Silent	SNP	G	G	A	rs374394451		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr4:16020105G>A	ENST00000510224.1	-	9	1091	c.843C>T	c.(841-843)caC>caT	p.H281H	PROM1_ENST00000447510.2_Silent_p.H281H|PROM1_ENST00000543373.1_Silent_p.H272H|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000539194.1_Silent_p.H281H|PROM1_ENST00000508167.1_Silent_p.H272H|PROM1_ENST00000505450.1_Silent_p.H272H|PROM1_ENST00000540805.1_Silent_p.H281H			O43490	PROM1_HUMAN	prominin 1	281					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.H280H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TACTTTGTTGGTGCAAGCTCT	0.502																																																1	Substitution - coding silent(1)	kidney(1)						G	,,,,,,	0,4176		0,0,2088	122	119	120		816,816,843,843,816,816,843	-10.8	0	4		120	2,8438		0,2,4218	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PROM1	NM_001145847.1,NM_001145848.1,NM_001145849.1,NM_001145850.1,NM_001145851.1,NM_001145852.1,NM_006017.2	,,,,,,	0,2,6306	AA,AG,GG		0.0237,0.0,0.0159	,,,,,,	272/857,272/857,281/843,281/835,272/834,272/826,281/866	16020105	2,12614	2088	4220	6308	SO:0001819	synonymous_variant	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.843C>T	4.37:g.16020105G>A			Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	CCDS47029.1																																																																																				0.502	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		A	16020105	G	A	16020105	2	1	384	1	0	0	0	0	0	0	0	1	12560	1252	44	2		2	PROM1	4	16020105	Silent	SNP	G	TCGA-BP-4970-01A-01D-1462-08		16020105	175134171	6	21329											
PCDHA2	56146	broad.mit.edu;hgsc.bcm.edu	37	5	140176057	140176057	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr5:140176057C>T	ENST00000526136.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A503V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A503V(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGCGCGTTGTCGAGC	0.677																																																2	Substitution - Missense(2)	kidney(2)											57	59	58					5																	140176057		2203	4299	6502	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1508C>T	5.37:g.140176057C>T	ENSP00000431748:p.Ala503Val		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.98	3.272519	0.59649	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.54071	0.66;0.59;0.63	3.88	1.98	0.26296	Cadherin (4);Cadherin-like (1);	0.970408	0.08372	U	0.955891	T	0.51856	0.1699	N	0.20610	0.595	0.09310	N	1	P;P;P	0.52692	0.955;0.869;0.955	P;P;P	0.56398	0.461;0.797;0.461	T	0.46303	-0.9201	10	0.66056	D	0.02	.	9.4268	0.38586	0.0:0.8211:0.0:0.1789	.	503;503;503	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	503	ENSP00000430584:A503V;ENSP00000367372:A503V;ENSP00000431748:A503V	ENSP00000367372:A503V	A	+	2	0	PCDHA2	140156241	0.000000	0.05858	0.963000	0.40424	0.959000	0.62525	0.232000	0.17891	0.219000	0.20840	0.644000	0.83932	GCG		0.677	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		T	140176057	C	T	140176057	3	4	384	1	0	0	0	0	1	0	0	0	11526	768	27	1	1510	1	PCDHA2	5	140176057	Missense_Mutation	SNP	C	TCGA-BP-4970-01A-01D-1462-08		140176057	40739203	7	21330											
HSD17B8	7923	broad.mit.edu;hgsc.bcm.edu	37	6	33173664	33173664	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr6:33173664A>G	ENST00000374662.3	+	6	653	c.626A>G	c.(625-627)aAa>aGa	p.K209R	HSD17B8_ENST00000469186.1_3'UTR|RING1_ENST00000374656.4_5'Flank|MIR219-1_ENST00000362166.1_RNA	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	209					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.K209R(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						ATGACACAGAAAGTGCCACAG	0.542																																																1	Substitution - Missense(1)	kidney(1)											115	112	113					6																	33173664		1508	2709	4217	SO:0001583	missense	7923			D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	3554	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 30C, member 1"	601417	"FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.626A>G	6.37:g.33173664A>G	ENSP00000363794:p.Lys209Arg		A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900323	0.33535	.	.	ENSG00000204228	ENST00000374662	D	0.87966	-2.32	4.92	4.92	0.64577	NAD(P)-binding domain (1);	0.052318	0.64402	D	0.000001	T	0.59514	0.2199	N	0.08118	0	0.44771	D	0.997772	B	0.10296	0.003	B	0.08055	0.003	T	0.58741	-0.7583	10	0.18276	T	0.48	.	12.5005	0.55952	1.0:0.0:0.0:0.0	.	209	Q92506	DHB8_HUMAN	R	209	ENSP00000363794:K209R	ENSP00000363794:K209R	K	+	2	0	HSD17B8	33281642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.264000	0.65513	1.849000	0.53698	0.519000	0.50382	AAA		0.542	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234		G	33173664	A	G	33173664	3	3	384	1	0	0	0	0	1	0	0	0	7391	14	1	3	648	3	HSD17B8	6	33173664	Missense_Mutation	SNP	A	TCGA-BP-4970-01A-01D-1462-08		33173664	137941403	8	21331											
COL19A1	1310	broad.mit.edu;ucsc.edu	37	6	70733567	70733567	+	Nonsense_Mutation	SNP	G	G	T	rs547323366		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr6:70733567G>T	ENST00000322773.4	+	12	1177	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	359	Collagen-like 2.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.E359*(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTTAATGGAGAAAATGTAAG	0.338																																																1	Substitution - Nonsense(1)	kidney(1)											93	90	91					6																	70733567		2203	4300	6503	SO:0001587	stop_gained	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1075G>T	6.37:g.70733567G>T	ENSP00000316030:p.Glu359*		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	37	6.550794	0.97658	.	.	ENSG00000082293	ENST00000322773	.	.	.	5.5	1.1	0.20463	.	0.553541	0.18416	N	0.141888	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	7.3154	0.26498	0.481:0.2919:0.2271:0.0	.	.	.	.	X	359	.	ENSP00000316030:E359X	E	+	1	0	COL19A1	70790288	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	0.829000	0.27449	0.250000	0.21479	-0.165000	0.13383	GAA		0.338	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			T	70733567	G	T	70733567	4	4	384	1	0	0	0	0	0	1	0	0	3678	943	33	4	1117	4	COL19A1	6	70733567	Nonsense_Mutation	SNP	G	TCGA-BP-4970-01A-01D-1462-08	37559903	70733567	100381500	9	21332											
EXOC4	60412	broad.mit.edu;ucsc.edu	37	7	133059626	133059626	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr7:133059626C>A	ENST00000253861.4	+	7	1081	c.1052C>A	c.(1051-1053)gCt>gAt	p.A351D	EXOC4_ENST00000393161.2_Missense_Mutation_p.A351D|EXOC4_ENST00000539845.1_Missense_Mutation_p.A250D	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	351					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.A351D(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAGTTTAATGCTGTAGCCGCT	0.433																																																1	Substitution - Missense(1)	kidney(1)											135	125	128					7																	133059626		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1052C>A	7.37:g.133059626C>A	ENSP00000253861:p.Ala351Asp		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649714	0.67358	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	L	0.58101	1.795	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.59115	0.852;0.852	T	0.69292	-0.5183	9	0.33141	T	0.24	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	351;351	Q96A65;Q8TAR2	EXOC4_HUMAN;.	D	351;351;250	.	ENSP00000253861:A351D	A	+	2	0	EXOC4	132710166	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.459000	0.66685	2.788000	0.95919	0.557000	0.71058	GCT		0.433	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		A	133059626	C	A	133059626	3	1	384	1	0	0	0	0	1	0	0	0	5308	797	28	4	1078	4	EXOC4	7	133059626	Missense_Mutation	SNP	C	TCGA-BP-4970-01A-01D-1462-08		133059626	26079037	10	21333											
UBE3C	9690	broad.mit.edu;hgsc.bcm.edu	37	7	156967613	156967613	+	Splice_Site	SNP	A	A	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr7:156967613A>G	ENST00000348165.5	+	5	703	c.343A>G	c.(343-345)Ata>Gta	p.I115V	UBE3C_ENST00000389103.4_Splice_Site_p.I72V	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	115					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I115V(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCTGTTTCAGATATGGCTGTA	0.313																																																1	Substitution - Missense(1)	kidney(1)											81	81	81					7																	156967613		2203	4300	6503	SO:0001630	splice_region_variant	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.343-1A>G	7.37:g.156967613A>G			A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890313	0.33348	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.42131	0.98	5.97	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	L	0.56769	1.78	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.14200	-1.0481	9	.	.	.	.	10.7196	0.46032	0.868:0.0:0.132:0.0	.	115;115;72	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	V	115;72	ENSP00000309198:I115V	.	I	+	1	0	UBE3C	156660374	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.179000	0.65043	1.069000	0.40788	0.533000	0.62120	ATA		0.313	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	Missense_Mutation	G	156967613	A	G	156967613	5	3	384	1	0	0	0	0	0	0	1	0	16886	347	12	3	361	3	UBE3C	7	156967613	Splice_Site	SNP	A	TCGA-BP-4970-01A-01D-1462-08	23907987	156967613	2171050	11	21334											
PPP3CC	5533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	22370886	22370886	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr8:22370886T>G	ENST00000240139.5	+	6	1038	c.711T>G	c.(709-711)aaT>aaG	p.N237K	PPP3CC_ENST00000397775.3_Missense_Mutation_p.N237K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.N237K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.N237K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	237					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.N237K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		ATTATGGCAATGAGAAGACCT	0.473																																																1	Substitution - Missense(1)	kidney(1)											173	158	163					8																	22370886		2203	4300	6503	SO:0001583	missense	5533				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.711T>G	8.37:g.22370886T>G	ENSP00000240139:p.Asn237Lys		B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.684|6.684	0.494853|0.494853	0.12702|0.12702	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000522034;ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000523620	.|T;T;T;T;T	.|0.05199	.|3.48;3.48;3.48;3.48;3.48	5.6|5.6	0.293|0.293	0.15742|0.15742	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	.|0.542173	.|0.19879	.|N	.|0.104006	T|T	0.04634|0.04634	0.0126|0.0126	L|L	0.28192|0.28192	0.835|0.835	0.29145|0.29145	N|N	0.878749|0.878749	.|B;B;B;B	.|0.10296	.|0.001;0.003;0.003;0.002	.|B;B;B;B	.|0.10450	.|0.002;0.003;0.005;0.002	T|T	0.27536|0.27536	-1.0071|-1.0071	5|10	.|0.38643	.|T	.|0.18	-5.2113|-5.2113	9.0761|9.0761	0.36522|0.36522	0.0:0.3167:0.0:0.6833|0.0:0.3167:0.0:0.6833	.|.	.|237;237;237;237	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	R|K	87;114|237;237;237;237;63	.|ENSP00000429379:N237K;ENSP00000240139:N237K;ENSP00000289963:N237K;ENSP00000380878:N237K;ENSP00000430555:N63K	.|ENSP00000240139:N237K	M|N	+|+	2|3	0|2	PPP3CC|PPP3CC	22426831|22426831	0.000000|0.000000	0.05858|0.05858	0.028000|0.028000	0.17463|0.17463	0.039000|0.039000	0.13416|0.13416	-0.302000|-0.302000	0.08221|0.08221	-0.166000|-0.166000	0.10890|0.10890	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.473	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		G	22370886	T	G	22370886	3	3	384	1	0	0	0	0	1	0	0	0	12404	1461	51	5	733	5	PPP3CC	8	22370886	Missense_Mutation	SNP	T	TCGA-BP-4970-01A-01D-1462-08		22370886	123993136	12	21335											
C8orf84	157869	hgsc.bcm.edu	37	8	74005131	74005131	+	Missense_Mutation	SNP	A	A	G	rs59331088	byFrequency	TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr8:74005131A>G	ENST00000297354.6	-	1	376	c.172T>C	c.(172-174)Ttc>Ctc	p.F58L	SBSPON_ENST00000519697.1_Intron	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	58	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.		F -> L (in dbSNP:rs59331088). {ECO:0000269|PubMed:12107410}.		immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										TCCCCGGTGAAGCGACAGGCT	0.711													G|||	1839	0.367212	0.649	0.2738	5008	,	,		9492	0.2966		0.2873	False		,,,				2504	0.2076															0								G	LEU/PHE	2242,1716		657,928,394	26	38	34		172	3.2	1	8	dbSNP_129	34	2237,6025		307,1623,2201	yes	missense	C8orf84	NM_153225.3	22	964,2551,2595	GG,GA,AA		27.0758,43.3552,36.653	benign	58/265	74005131	4479,7741	1979	4131	6110	SO:0001583	missense	0				CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"RPE spondin", "rpe-spondin"		"chromosome 8 open reading frame 84"	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.172T>C	8.37:g.74005131A>G	ENSP00000297354:p.Phe58Leu		A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	CCDS43747.2	800	0.3663003663003663	324	0.6585365853658537	111	0.30662983425414364	163	0.28496503496503495	202	0.26649076517150394	G	10.70	1.423153	0.25639	0.566448	0.270758	ENSG00000164764	ENST00000297354	T	0.20738	2.05	5.15	3.25	0.37280	Somatomedin B domain (2);	0.526255	0.19119	N	0.122227	T	0.00012	0.0000	N	0.00707	-1.245	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35351	-0.9792	9	0.07990	T	0.79	-14.5554	7.5784	0.27950	0.1573:0.1376:0.7051:0.0	rs59331088;rs62510382	58	Q8IVN8	RPESP_HUMAN	L	58	ENSP00000297354:F58L	ENSP00000297354:F58L	F	-	1	0	C8orf84	74167685	0.163000	0.22920	0.998000	0.56505	0.992000	0.81027	0.807000	0.27140	1.175000	0.42826	-0.220000	0.12472	TTC		0.711	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		G	74005131	A	G	74005131	3	3	384	1	0	0	0	0	1	0	0	0	2442	72	3	3	642	3	C8orf84	8	74005131	Missense_Mutation	SNP	A	TCGA-BP-4970-01A-01D-1462-08	51634245	74005131	72358891	13	21336											
MTDH	92140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	98703207	98703207	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr8:98703207C>G	ENST00000336273.3	+	6	1167	c.839C>G	c.(838-840)aCt>aGt	p.T280S	MTDH_ENST00000519934.1_Missense_Mutation_p.T257S	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	280					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.T280S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GAAAACCTCACTGTCAATGGA	0.383																																																1	Substitution - Missense(1)	kidney(1)											58	60	60					8																	98703207		2203	4300	6503	SO:0001583	missense	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.839C>G	8.37:g.98703207C>G	ENSP00000338235:p.Thr280Ser		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.92|15.92	2.976101|2.976101	0.53720|0.53720	.|.	.|.	ENSG00000147649|ENSG00000147649	ENST00000522313|ENST00000336273;ENST00000519934	.|T;T	.|0.48522	.|0.83;0.81	6.01|6.01	5.13|5.13	0.70059|0.70059	.|.	.|0.230124	.|0.47852	.|D	.|0.000211	T|T	0.42787|0.42787	0.1218|0.1218	L|L	0.42245|0.42245	1.32|1.32	0.39487|0.39487	D|D	0.967976|0.967976	.|B	.|0.25235	.|0.121	.|B	.|0.26693	.|0.072	T|T	0.31586|0.31586	-0.9938|-0.9938	5|10	.|0.32370	.|T	.|0.25	-9.9098|-9.9098	15.6563|15.6563	0.77136|0.77136	0.0:0.8636:0.1364:0.0|0.0:0.8636:0.1364:0.0	.|.	.|280	.|Q86UE4	.|LYRIC_HUMAN	V|S	163|280;257	.|ENSP00000338235:T280S;ENSP00000428168:T257S	.|ENSP00000338235:T280S	L|T	+|+	1|2	2|0	MTDH|MTDH	98772383|98772383	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.748000|2.748000	0.47483|0.47483	1.528000|1.528000	0.49103|0.49103	0.650000|0.650000	0.86243|0.86243	CTG|ACT		0.383	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			G	98703207	C	G	98703207	3	3	384	1	0	0	0	0	1	0	0	0	9919	565	20	4	861	4	MTDH	8	98703207	Missense_Mutation	SNP	C	TCGA-BP-4970-01A-01D-1462-08	24698076	98703207	47660815	14	21337											
CSTF2T	23283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	53458229	53458229	+	Missense_Mutation	SNP	C	C	T	rs374193081		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr10:53458229C>T	ENST00000331173.4	-	1	1126	c.1081G>A	c.(1081-1083)Ggt>Agt	p.G361S	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	361	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G361S(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ATGGGGGGACCCTGATGGGGT	0.552																																																1	Substitution - Missense(1)	kidney(1)											71	71	71					10																	53458229		2203	4300	6503	SO:0001583	missense	23283			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1081G>A	10.37:g.53458229C>T	ENSP00000332444:p.Gly361Ser		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449218	0.84101	.	.	ENSG00000177613	ENST00000331173	T	0.25912	1.77	4.9	4.9	0.64082	.	0.179165	0.46442	D	0.000288	T	0.44414	0.1292	L	0.58101	1.795	0.51767	D	0.999931	D	0.89917	1.0	D	0.91635	0.999	T	0.11036	-1.0604	10	0.12766	T	0.61	-7.0361	15.9759	0.80063	0.0:1.0:0.0:0.0	.	361	Q9H0L4	CSTFT_HUMAN	S	361	ENSP00000332444:G361S	ENSP00000332444:G361S	G	-	1	0	CSTF2T	53128235	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.946000	0.63576	2.719000	0.93026	0.655000	0.94253	GGT		0.552	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		T	53458229	C	T	53458229	3	4	384	1	0	0	0	0	1	0	0	0	3987	623	22	2	773	2	CSTF2T	10	53458229	Missense_Mutation	SNP	C	TCGA-BP-4970-01A-01D-1462-08		53458229	82076518	15	21338											
TRIM5	85363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5687233	5687233	+	Silent	SNP	T	T	C			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr11:5687233T>C	ENST00000380034.3	-	6	1102	c.846A>G	c.(844-846)aaA>aaG	p.K282K	TRIM5_ENST00000305836.5_Silent_p.K282K|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Silent_p.K283K|TRIM5_ENST00000380027.1_Silent_p.K282K|TRIM5_ENST00000396855.3_Silent_p.K282K|TRIM5_ENST00000396847.3_Silent_p.K282K	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	282	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K282K(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTAGCATTCCTTTCAGATCAG	0.403																																																3	Substitution - coding silent(3)	kidney(3)											112	114	113					11																	5687233		2201	4297	6498	SO:0001819	synonymous_variant	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.846A>G	11.37:g.5687233T>C			A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	CCDS31393.1																																																																																				0.403	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		C	5687233	T	C	5687233	2	2	384	1	0	0	0	0	0	0	0	1	16530	1606	56	3		3	TRIM5	11	5687233	Silent	SNP	T	TCGA-BP-4970-01A-01D-1462-08		5687233	129319283	16	21339											
SF3B2	10992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65822560	65822560	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr11:65822560C>A	ENST00000322535.6	+	4	321	c.272C>A	c.(271-273)cCc>cAc	p.P91H	SF3B2_ENST00000528302.1_Missense_Mutation_p.P91H|snoU13_ENST00000459530.1_RNA	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	91	Poly-Pro.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.P91H(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCTGGAATTCCCATGCCACCA	0.537																																																1	Substitution - Missense(1)	kidney(1)											72	85	81					11																	65822560		2201	4295	6496	SO:0001583	missense	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.272C>A	11.37:g.65822560C>A	ENSP00000318861:p.Pro91His		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.19|12.19	1.863779|1.863779	0.32884|0.32884	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000355456;ENST00000530322;ENST00000524475|ENST00000533421	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.114168|0.114168	0.64402|0.64402	D|D	0.000011|0.000011	T|T	0.53753|0.53753	0.1816|0.1816	N|N	0.19112|0.19112	0.55|0.55	0.46396|0.46396	D|D	0.999021|0.999021	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.83275|.	0.99;0.996|.	T|T	0.59107|0.59107	-0.7516|-0.7516	9|7	0.46703|0.66056	T|D	0.11|0.02	-14.2964|-14.2964	14.5124|14.5124	0.67797|0.67797	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	91;91|.	Q13435;E9PJ04|.	SF3B2_HUMAN;.|.	H|T	91;91;91;91;93;86;9|42	.|.	ENSP00000318861:P91H|ENSP00000434288:P42T	P|P	+|+	2|1	0|0	SF3B2|SF3B2	65579136|65579136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	3.790000|3.790000	0.55461|0.55461	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.537	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			A	65822560	C	A	65822560	3	1	384	1	0	0	0	0	1	0	0	0	14157	623	22	4	286	4	SF3B2	11	65822560	Missense_Mutation	SNP	C	TCGA-BP-4970-01A-01D-1462-08	60135327	65822560	69183956	17	21340											
DDN	23109	broad.mit.edu	37	12	49390707	49390707	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr12:49390707G>A	ENST00000421952.2	-	2	1973	c.1952C>T	c.(1951-1953)gCc>gTc	p.A651V	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	651	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A597V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCGCCAGGAGGCGCCCGGGGC	0.627											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											21	19	19					12																	49390707		2202	4298	6500	SO:0001583	missense	23109			AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1952C>T	12.37:g.49390707G>A	ENSP00000390590:p.Ala651Val	961		Missense_Mutation	SNP	ENST00000421952.2	37	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621540	0.66787	.	.	ENSG00000181418	ENST00000421952	T	0.52983	0.64	4.55	4.55	0.56014	.	0.000000	0.45606	D	0.000350	T	0.39436	0.1078	L	0.32530	0.975	0.37622	D	0.921354	P	0.45957	0.869	B	0.42087	0.375	T	0.51601	-0.8685	10	0.87932	D	0	.	12.9839	0.58581	0.0:0.0:1.0:0.0	.	651	O94850	DEND_HUMAN	V	651	ENSP00000390590:A651V	ENSP00000390590:A651V	A	-	2	0	DDN	47676974	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.597000	0.61062	2.536000	0.85505	0.462000	0.41574	GCC		0.627	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			A	49390707	G	A	49390707	3	1	384	1	0	0	0	0	1	0	0	0	4335	1203	42	2	187	2	DDN	12	49390707	Missense_Mutation	SNP	G	TCGA-BP-4970-01A-01D-1462-08		49390707	84461188	18	21341											
PRKAG1	5571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49396983	49396983	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr12:49396983T>G	ENST00000548065.1	-	11	1288	c.832A>C	c.(832-834)Aag>Cag	p.K278Q	PRKAG1_ENST00000552212.1_Missense_Mutation_p.K246Q|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.K194Q|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.K287Q|PRKAG1_ENST00000547306.1_Missense_Mutation_p.K227Q|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	278	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.K278Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	AGGTAGCACTTGAGAACACCC	0.502																																																1	Substitution - Missense(1)	kidney(1)											382	369	374					12																	49396983		2203	4300	6503	SO:0001583	missense	5571			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.832A>C	12.37:g.49396983T>G	ENSP00000447433:p.Lys278Gln		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524358	0.44969	.	.	ENSG00000181929	ENST00000548362;ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696	D;D;D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	5.06	5.06	0.68205	Cystathionine beta-synthase, core (3);	0.051597	0.85682	D	0.000000	D	0.92260	0.7545	M	0.74647	2.275	0.50313	D	0.999865	P;P	0.45126	0.838;0.851	B;B	0.39562	0.298;0.303	D	0.92997	0.6420	10	0.62326	D	0.03	-13.0166	13.9432	0.64069	0.0:0.0:0.0:1.0	.	287;278	Q8N7V9;P54619	.;AAKG1_HUMAN	Q	43;194;227;287;278;246;198;172	ENSP00000446987:K43Q;ENSP00000378599:K194Q;ENSP00000448873:K227Q;ENSP00000323867:K287Q;ENSP00000447433:K278Q;ENSP00000448972:K246Q;ENSP00000449121:K198Q;ENSP00000447671:K172Q	ENSP00000323867:K287Q	K	-	1	0	PRKAG1	47683250	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.982000	0.70532	2.132000	0.65825	0.533000	0.62120	AAG		0.502	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		G	49396983	T	G	49396983	3	3	384	1	0	0	0	0	1	0	0	0	12505	1821	63	5	171	5	PRKAG1	12	49396983	Missense_Mutation	SNP	T	TCGA-BP-4970-01A-01D-1462-08	6276	49396983	84454912	19	21342											
SOAT2	8435	hgsc.bcm.edu;ucsc.edu	37	12	53516966	53516966	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr12:53516966delT	ENST00000301466.3	+	13	1398	c.1338delT	c.(1336-1338)tatfs	p.Y446fs		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	446					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GGTTCTTCTATCCCGTCATGC	0.592																																																0													251	195	214					12																	53516966		2203	4300	6503	SO:0001589	frameshift_variant	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1338delT	12.37:g.53516966delT	ENSP00000301466:p.Tyr446fs		F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Frame_Shift_Del	DEL	ENST00000301466.3	37	CCDS8847.1																																																																																				0.592	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			-	53516966	T	-	53516966	7	5	384	1	0	1	0	1	0	0	0	0	14917	1442	50	0	1388	0	SOAT2	12	53516966	Frame_Shift_Del	DEL	T	TCGA-BP-4970-01A-01D-1462-08	4119983	53516966	80334929	20	21343											
C13orf26	122046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	31526903	31526903	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr13:31526903G>T	ENST00000380473.3	+	3	266	c.253G>T	c.(253-255)Gat>Tat	p.D85Y		NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	85								p.D85Y(1)									CTCTAAAGAAGATTTGATCAA	0.328																																																1	Substitution - Missense(1)	kidney(1)											110	105	106					13																	31526903		2203	4296	6499	SO:0001583	missense	0			BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 26"	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.253G>T	13.37:g.31526903G>T	ENSP00000369840:p.Asp85Tyr			Missense_Mutation	SNP	ENST00000380473.3	37	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843873	0.51164	.	.	ENSG00000175664	ENST00000380473	T	0.47869	0.83	4.5	2.36	0.29203	.	0.512547	0.18350	N	0.143920	T	0.50854	0.1640	L	0.57536	1.79	0.09310	N	1	D	0.60160	0.987	P	0.55303	0.773	T	0.40136	-0.9579	10	0.72032	D	0.01	-7.7774	4.4883	0.11801	0.1583:0.2166:0.6251:0.0	.	85	Q8N6G2	CM026_HUMAN	Y	85	ENSP00000369840:D85Y	ENSP00000369840:D85Y	D	+	1	0	C13orf26	30424903	0.766000	0.28496	0.009000	0.14445	0.563000	0.35712	1.240000	0.32731	0.898000	0.36418	0.467000	0.42956	GAT		0.328	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		T	31526903	G	T	31526903	3	4	384	1	0	0	0	0	1	0	0	0	1724	942	33	4	263	4	C13orf26	13	31526903	Missense_Mutation	SNP	G	TCGA-BP-4970-01A-01D-1462-08		31526903	83642975	21	21344											
UGGT2	55757	hgsc.bcm.edu;ucsc.edu	37	13	96589247	96589247	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr13:96589247delT	ENST00000376747.3	-	17	1978	c.1908delA	c.(1906-1908)aaafs	p.K636fs		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	636					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTTTAGTTCTTTAATATTCA	0.338																																																0													85	90	88					13																	96589247		2203	4299	6502	SO:0001589	frameshift_variant	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1908delA	13.37:g.96589247delT	ENSP00000365938:p.Lys636fs		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Frame_Shift_Del	DEL	ENST00000376747.3	37	CCDS9480.1																																																																																				0.338	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		-	96589247	T	-	96589247	7	5	384	1	0	1	0	1	0	0	0	0	16947	1606	56	0	2734	0	UGGT2	13	96589247	Frame_Shift_Del	DEL	T	TCGA-BP-4970-01A-01D-1462-08	65062344	96589247	18580631	22	21345											
FSCB	84075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	44975908	44975908	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr14:44975908C>T	ENST00000340446.4	-	1	574	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	95						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E95K(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GACTTTTCTTCAGGTACCACG	0.398																																																1	Substitution - Missense(1)	kidney(1)											199	193	195					14																	44975908		2203	4300	6503	SO:0001583	missense	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.283G>A	14.37:g.44975908C>T	ENSP00000344579:p.Glu95Lys		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752147	0.31046	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.13089	2.62	5.26	1.4	0.22301	.	.	.	.	.	T	0.12220	0.0297	L	0.55481	1.735	0.09310	N	1	P	0.38335	0.627	B	0.32211	0.142	T	0.13710	-1.0499	9	0.72032	D	0.01	-0.2052	8.2865	0.31932	0.0:0.6634:0.0:0.3366	.	95	Q5H9T9	FSCB_HUMAN	K	95	ENSP00000344579:E95K	ENSP00000344579:E95K	E	-	1	0	FSCB	44045658	0.822000	0.29219	0.052000	0.19188	0.675000	0.39556	0.783000	0.26802	0.328000	0.23435	0.561000	0.74099	GAA		0.398	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		T	44975908	C	T	44975908	3	4	384	1	0	0	0	0	1	0	0	0	6068	835	29	2	2198	2	FSCB	14	44975908	Missense_Mutation	SNP	C	TCGA-BP-4970-01A-01D-1462-08		44975908	62373632	23	21346											
TAF1C	9013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84215586	84215586	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr16:84215586G>A	ENST00000567759.1	-	8	982	c.800C>T	c.(799-801)cCt>cTt	p.P267L	TAF1C_ENST00000566732.1_Missense_Mutation_p.P267L|TAF1C_ENST00000341690.6_Missense_Mutation_p.P200L|TAF1C_ENST00000378541.4_Missense_Mutation_p.P267L|TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000541676.1_Missense_Mutation_p.P200L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	267					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.P267L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TTGCCGGACAGGTCCCTGGAG	0.562																																																1	Substitution - Missense(1)	kidney(1)											101	90	93					16																	84215586		2200	4300	6500	SO:0001583	missense	9013			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.800C>T	16.37:g.84215586G>A	ENSP00000455265:p.Pro267Leu		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394866	0.83011	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.03441	3.93;3.93;3.93	4.28	4.28	0.50868	.	0.220856	0.29073	N	0.013231	T	0.14787	0.0357	M	0.70595	2.14	0.53688	D	0.999972	D;D;D;D	0.89917	0.979;1.0;1.0;1.0	P;D;D;D	0.91635	0.892;0.998;0.999;0.998	T	0.00849	-1.1541	10	0.33940	T	0.23	-9.4185	12.4336	0.55586	0.0:0.0:1.0:0.0	.	267;267;267;200	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	L	267;200;200;267	ENSP00000367802:P267L;ENSP00000437900:P200L;ENSP00000345305:P200L	ENSP00000345305:P200L	P	-	2	0	TAF1C	82773087	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.286000	0.51724	2.390000	0.81377	0.655000	0.94253	CCT		0.562	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		A	84215586	G	A	84215586	3	1	384	1	0	0	0	0	1	0	0	0	15526	1000	35	2	1837	2	TAF1C	16	84215586	Missense_Mutation	SNP	G	TCGA-BP-4970-01A-01D-1462-08		84215586	6139167	24	21347											
C17orf66	256957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34182253	34182253	+	Silent	SNP	T	T	C			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr17:34182253T>C	ENST00000311880.2	-	15	1675	c.1527A>G	c.(1525-1527)caA>caG	p.Q509Q	C17orf66_ENST00000592980.1_Silent_p.Q469Q	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		509					hematopoietic progenitor cell differentiation (GO:0002244)			p.Q509Q(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GTCGAAAGTCTTGAATAGTTA	0.468																																																1	Substitution - coding silent(1)	kidney(1)											168	162	164					17																	34182253		2203	4300	6503	SO:0001819	synonymous_variant	256957																														ENST00000311880.2:c.1527A>G	17.37:g.34182253T>C			B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	CCDS11299.1																																																																																				0.468	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			C	34182253	T	C	34182253	2	2	384	1	0	0	0	0	0	0	0	1	1876	1606	56	3		3	C17orf66	17	34182253	Silent	SNP	T	TCGA-BP-4970-01A-01D-1462-08		34182253	47012957	25	21348											
OSBPL7	114881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	45894652	45894652	+	Silent	SNP	G	G	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr17:45894652G>A	ENST00000007414.3	-	8	863	c.672C>T	c.(670-672)atC>atT	p.I224I	OSBPL7_ENST00000392507.3_Silent_p.I224I	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	224					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.I224I(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGGCTGAGGGGATTCGGTGCA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											52	52	52					17																	45894652		2203	4300	6503	SO:0001819	synonymous_variant	114881			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.672C>T	17.37:g.45894652G>A			D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	CCDS11515.1																																																																																				0.587	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		A	45894652	G	A	45894652	2	1	384	1	0	0	0	0	0	0	0	1	11284	1164	41	2		2	OSBPL7	17	45894652	Silent	SNP	G	TCGA-BP-4970-01A-01D-1462-08	11712399	45894652	35300558	26	21349											
ACSF2	80221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48539834	48539834	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr17:48539834T>C	ENST00000300441.4	+	6	784	c.680T>C	c.(679-681)cTg>cCg	p.L227P	ACSF2_ENST00000427954.2_Missense_Mutation_p.L252P|ACSF2_ENST00000502667.1_Missense_Mutation_p.L214P|ACSF2_ENST00000504392.1_Missense_Mutation_p.L184P|ACSF2_ENST00000541920.1_Missense_Mutation_p.L67P	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	227					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)	p.L227P(1)		endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGGGGACCCTGCTCCTGGAT	0.622																																																1	Substitution - Missense(1)	kidney(1)											75	72	73					17																	48539834		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.680T>C	17.37:g.48539834T>C	ENSP00000300441:p.Leu227Pro		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129319	0.77549	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.57	5.57	0.84162	AMP-dependent synthetase/ligase (1);	0.171089	0.42548	D	0.000686	T	0.66915	0.2838	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.65815	0.995;0.995;0.995;0.995	D;D;D;D	0.68943	0.961;0.961;0.961;0.961	T	0.69015	-0.5257	10	0.62326	D	0.03	-14.8474	15.7325	0.77817	0.0:0.0:0.0:1.0	.	214;252;184;227	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	P	227;67;184;252;214	ENSP00000300441:L227P;ENSP00000437987:L67P;ENSP00000425964:L184P;ENSP00000401831:L252P;ENSP00000421884:L214P	ENSP00000300441:L227P	L	+	2	0	ACSF2	45894833	0.994000	0.37717	0.995000	0.50966	0.683000	0.39861	7.409000	0.80053	2.116000	0.64780	0.460000	0.39030	CTG		0.622	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		C	48539834	T	C	48539834	3	2	384	1	0	0	0	0	1	0	0	0	175	1580	55	3	702	3	ACSF2	17	48539834	Missense_Mutation	SNP	T	TCGA-BP-4970-01A-01D-1462-08	2645182	48539834	32655376	27	21350											
MKS1	54903	broad.mit.edu;hgsc.bcm.edu	37	17	56283522	56283522	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr17:56283522C>T	ENST00000393119.2	-	18	1672	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H	MKS1_ENST00000313863.6_3'UTR|MKS1_ENST00000337050.7_Intron|MKS1_ENST00000546108.1_Missense_Mutation_p.R330H|MKS1_ENST00000537529.2_Missense_Mutation_p.R523H	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	533					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.R533H(1)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCGGGCTCGACGGAAGGCCTC	0.612																																																1	Substitution - Missense(1)	kidney(1)											31	35	34					17																	56283522		1898	4113	6011	SO:0001583	missense	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1598G>A	17.37:g.56283522C>T	ENSP00000376827:p.Arg533His		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672395	0.29693	.	.	ENSG00000011143	ENST00000537529;ENST00000393119;ENST00000546108	T;T;T	0.73789	-0.33;-0.32;-0.78	5.35	-8.57	0.00900	.	0.520353	0.22475	N	0.059578	T	0.51329	0.1668	N	0.08118	0	0.22017	N	0.99942	B	0.09022	0.002	B	0.08055	0.003	T	0.03259	-1.1055	10	0.59425	D	0.04	-19.7431	19.8761	0.96870	0.0:0.1244:0.0:0.8756	.	533	Q9NXB0	MKS1_HUMAN	H	523;533;330	ENSP00000442096:R523H;ENSP00000376827:R533H;ENSP00000443012:R330H	ENSP00000376827:R533H	R	-	2	0	MKS1	53638521	0.934000	0.31675	0.005000	0.12908	0.752000	0.42762	0.339000	0.19875	-1.697000	0.01420	-1.223000	0.01593	CGT		0.612	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		T	56283522	C	T	56283522	3	4	384	1	0	0	0	0	1	0	0	0	9611	536	19	1	85	1	MKS1	17	56283522	Missense_Mutation	SNP	C	TCGA-BP-4970-01A-01D-1462-08	7743688	56283522	24911688	28	21351											
DNAH17	8632	hgsc.bcm.edu	37	17	76486812	76486813	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr17:76486812_76486813delAG	ENST00000585328.1	-	44	6895_6896	c.6771_6772delCT	c.(6769-6774)ctctacfs	p.Y2258fs	DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Frame_Shift_Del_p.Y2249fs|RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2249	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGTTGATGTAGAGGATGCCGG	0.594																																																0																																										SO:0001589	frameshift_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6771_6772delCT	17.37:g.76486814_76486815delAG	ENSP00000465516:p.Tyr2258fs		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Frame_Shift_Del	DEL	ENST00000585328.1	37																																																																																					0.594	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		-	76486813	AG	-	76486812	7	5	384	1	0	1	0	1	0	0	0	0	4603	420	15	0	6753	0	DNAH17	17	76486812	Frame_Shift_Del	DEL	AG	TCGA-BP-4970-01A-01D-1462-08	20203290	76486812	4708398	29	21352											
SHC2	25759	hgsc.bcm.edu	37	19	434718	434718	+	Silent	SNP	G	G	A	rs61749991	byFrequency	TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:434718G>A	ENST00000264554.6	-	8	1100	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	367	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGTCGAGGGCCGTGAGGG	0.657													G|||	465	0.0928514	0.034	0.0504	5008	,	,		18293	0.1776		0.0199	False		,,,				2504	0.1902															0								G		79,3943		1,77,1933	22	29	27		1101	1.9	0.6	19	dbSNP_129	27	106,8214		0,106,4054	no	coding-synonymous	SHC2	NM_012435.2		1,183,5987	AA,AG,GG		1.274,1.9642,1.4989		367/583	434718	185,12157	2011	4160	6171	SO:0001819	synonymous_variant	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1101C>T	19.37:g.434718G>A			O60230|Q9NPL5|Q9UCX4	Silent	SNP	ENST00000264554.6	37	CCDS45891.1																																																																																				0.657	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			A	434718	G	A	434718	2	1	384	1	0	0	0	0	0	0	0	1	14277	1219	43	2		2	SHC2	19	434718	Silent	SNP	G	TCGA-BP-4970-01A-01D-1462-08		434718	58694265	30	21353											
B3GNT3	10331	broad.mit.edu	37	19	17918663	17918663	+	Missense_Mutation	SNP	C	C	A	rs371779566		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:17918663C>A	ENST00000318683.6	+	2	194	c.47C>A	c.(46-48)gCc>gAc	p.A16D	B3GNT3_ENST00000595387.1_Missense_Mutation_p.A16D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	16					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.A16D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CTCATTCTGGCCATCGGCGCT	0.672																																																1	Substitution - Missense(1)	kidney(1)											32	32	32					19																	17918663		2203	4300	6503	SO:0001583	missense	10331			AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.47C>A	19.37:g.17918663C>A	ENSP00000321874:p.Ala16Asp		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848900	0.32699	.	.	ENSG00000179913	ENST00000318683	T	0.28666	1.6	3.36	-2.22	0.06952	.	1.642050	0.03685	U	0.246189	T	0.19446	0.0467	N	0.08118	0	0.09310	N	1	D	0.55385	0.971	P	0.46049	0.502	T	0.21109	-1.0255	10	0.45353	T	0.12	.	7.5743	0.27926	0.0:0.532:0.0:0.468	.	16	Q9Y2A9	B3GN3_HUMAN	D	16	ENSP00000321874:A16D	ENSP00000321874:A16D	A	+	2	0	B3GNT3	17779663	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.116000	0.03286	-0.248000	0.09583	0.478000	0.44815	GCC		0.672	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		A	17918663	C	A	17918663	3	1	384	1	0	0	0	0	1	0	0	0	1258	739	26	4	49	4	B3GNT3	19	17918663	Missense_Mutation	SNP	C	TCGA-BP-4970-01A-01D-1462-08	17483945	17918663	41210320	31	21354											
DMKN	93099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36003526	36003526	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:36003526T>G	ENST00000339686.3	-	2	769	c.593A>C	c.(592-594)aAt>aCt	p.N198T	DMKN_ENST00000419602.1_Missense_Mutation_p.N198T|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.N198T|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.N198T|DMKN_ENST00000440396.1_Missense_Mutation_p.N198T|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.N198T|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000429837.1_Missense_Mutation_p.N198T|DMKN_ENST00000451297.2_Missense_Mutation_p.N198T|DMKN_ENST00000492341.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	198	Gly-rich.			N -> D (in Ref. 3; ABN11273). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.N198T(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGCCCTCCATTGCCTCCTTG	0.617																																																2	Substitution - Missense(2)	kidney(2)											109	115	113					19																	36003526		2203	4300	6503	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.593A>C	19.37:g.36003526T>G	ENSP00000342012:p.Asn198Thr		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640447	0.47153	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.21031	2.55;2.31;2.36;2.03;2.06;2.05;2.04;2.05	4.49	0.92	0.19397	.	0.574395	0.14486	N	0.316668	T	0.20047	0.0482	L	0.43152	1.355	0.09310	N	1	P;P;P;P;P;P;P	0.50819	0.939;0.939;0.939;0.939;0.939;0.793;0.939	P;P;P;P;P;B;P	0.48425	0.577;0.577;0.577;0.577;0.577;0.422;0.577	T	0.10823	-1.0613	10	0.72032	D	0.01	-1.9192	3.8289	0.08865	0.0:0.198:0.186:0.6159	.	198;198;198;198;198;198;198	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	T	198	ENSP00000342012:N198T;ENSP00000405503:N198T;ENSP00000391036:N198T;ENSP00000394908:N198T;ENSP00000415277:N198T;ENSP00000414743:N198T;ENSP00000388404:N198T;ENSP00000409513:N198T	ENSP00000342012:N198T	N	-	2	0	DMKN	40695366	0.003000	0.15002	0.008000	0.14137	0.039000	0.13416	1.270000	0.33086	0.298000	0.22638	0.533000	0.62120	AAT		0.617	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		G	36003526	T	G	36003526	3	3	384	1	0	0	0	0	1	0	0	0	4584	1493	52	5	1214	5	DMKN	19	36003526	Missense_Mutation	SNP	T	TCGA-BP-4970-01A-01D-1462-08	18084863	36003526	23125457	32	21355											
LILRA6	79168	hgsc.bcm.edu	37	19	54744772	54744772	+	Missense_Mutation	SNP	T	T	G	rs77717986		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:54744772T>G	ENST00000396365.2	-	5	929	c.890A>C	c.(889-891)tAt>tCt	p.Y297S	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.Y297S|LILRA6_ENST00000245621.5_Missense_Mutation_p.Y297S|LILRA6_ENST00000440558.2_Missense_Mutation_p.Y297S|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	297	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTGCACCATAGCACCTGTA	0.682																																																0													57	71	67					19																	54744772		2203	4300	6503	SO:0001583	missense	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.890A>C	19.37:g.54744772T>G	ENSP00000379651:p.Tyr297Ser			Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	T	3.313	-0.140376	0.06669	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	2.1	2.1	0.27182	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228496	0.22643	N	0.057421	T	0.24509	0.0594	M	0.68728	2.09	0.58432	D	0.999998	P;D;P;P	0.89917	0.674;1.0;0.63;0.674	P;D;P;B	0.91635	0.651;0.999;0.495;0.344	T	0.01266	-1.1401	10	0.48119	T	0.1	.	6.2058	0.20602	0.0:0.0:0.0:1.0	.	297;297;297;297	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	S	297	ENSP00000390120:Y297S;ENSP00000411227:Y297S;ENSP00000379651:Y297S;ENSP00000245621:Y297S	ENSP00000245621:Y297S	Y	-	2	0	LILRA6	59436584	0.024000	0.19004	0.735000	0.30896	0.045000	0.14185	0.527000	0.22987	1.233000	0.43693	0.136000	0.15936	TAT		0.682	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		G	54744772	T	G	54744772	3	3	384	1	0	0	0	0	1	0	0	0	8791	1406	49	5	571	5	LILRA6	19	54744772	Missense_Mutation	SNP	T	TCGA-BP-4970-01A-01D-1462-08	18741246	54744772	4384211	33	21356	165	2									
LILRA6	79168	hgsc.bcm.edu	37	19	54744777	54744777	+	Silent	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:54744777C>T	ENST00000396365.2	-	5	924	c.885G>A	c.(883-885)agG>agA	p.R295R	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Silent_p.R295R|LILRA6_ENST00000245621.5_Silent_p.R295R|LILRA6_ENST00000440558.2_Silent_p.R295R|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	295	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACCATAGCACCTGTACTGGC	0.677																																																0													57	71	66					19																	54744777		2203	4300	6503	SO:0001819	synonymous_variant	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.885G>A	19.37:g.54744777C>T				Silent	SNP	ENST00000396365.2	37	CCDS42610.1																																																																																				0.677	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		T	54744777	C	T	54744777	2	4	384	1	0	0	0	0	0	0	0	1	8791	506	18	2		2	LILRA6	19	54744777	Silent	SNP	C	TCGA-BP-4970-01A-01D-1462-08	5	54744777	4384206	34	21357	165	2									
TRIM28	10155	broad.mit.edu	37	19	59060112	59060112	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr19:59060112G>A	ENST00000253024.5	+	10	1618	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	TRIM28_ENST00000341753.6_Missense_Mutation_p.M361I	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	443					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M443I(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CACAGCCCATGGAGGTGCAGG	0.617																																																1	Substitution - Missense(1)	kidney(1)											97	88	91					19																	59060112		2203	4300	6503	SO:0001583	missense	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1329G>A	19.37:g.59060112G>A	ENSP00000253024:p.Met443Ile		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628926	0.28978	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.67523	-0.06;-0.27	5.12	5.12	0.69794	.	0.088072	0.51477	D	0.000095	T	0.52901	0.1763	N	0.22421	0.69	0.38277	D	0.942312	B;B;B	0.25809	0.135;0.001;0.043	B;B;B	0.25291	0.059;0.004;0.016	T	0.53872	-0.8377	10	0.37606	T	0.19	-38.0082	14.2646	0.66107	0.0:0.0:1.0:0.0	.	361;443;443	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	I	443;361	ENSP00000253024:M443I;ENSP00000342232:M361I	ENSP00000253024:M443I	M	+	3	0	TRIM28	63751924	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	4.365000	0.59486	2.837000	0.97791	0.655000	0.94253	ATG		0.617	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		A	59060112	G	A	59060112	3	1	384	1	0	0	0	0	1	0	0	0	16507	1348	47	2	1367	2	TRIM28	19	59060112	Missense_Mutation	SNP	G	TCGA-BP-4970-01A-01D-1462-08	4315335	59060112	68871	35	21358											
PIGU	128869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33225754	33225754	+	Silent	SNP	C	C	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr20:33225754C>T	ENST00000374820.2	-	4	314	c.294G>A	c.(292-294)caG>caA	p.Q98Q	PIGU_ENST00000452740.2_Silent_p.Q118Q			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	118					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q118Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						CTGGGGCATACTGGTCCAGTT	0.403																																																1	Substitution - coding silent(1)	kidney(1)											87	85	85					20																	33225754		2203	4300	6503	SO:0001819	synonymous_variant	128869			AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"Phosphatidylinositol glycan anchor biosynthesis"	15791	protein-coding gene	gene with protein product	"GPI transamidase subunit"	608528	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.294G>A	20.37:g.33225754C>T			Q7Z489|Q8N2F2	Silent	SNP	ENST00000374820.2	37																																																																																					0.403	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476		T	33225754	C	T	33225754	2	4	384	1	0	0	0	0	0	0	0	1	11902	564	20	2		2	PIGU	20	33225754	Silent	SNP	C	TCGA-BP-4970-01A-01D-1462-08		33225754	29799766	36	21359											
ACOT8	10005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44477168	44477168	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr20:44477168G>T	ENST00000217455.4	-	3	499	c.409C>A	c.(409-411)Cag>Aag	p.Q137K		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	137					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.Q137K(1)		kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				AACTGGTGCTGCATGGGGCTG	0.592																																																1	Substitution - Missense(1)	kidney(1)											181	174	176					20																	44477168		2203	4300	6503	SO:0001583	missense	10005			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"Acyl CoA thioesterases"	15919	protein-coding gene	gene with protein product	"choloyl-CoA hydrolase"	608123	"peroxisomal acyl-CoA thioesterase", "peroxisomal acyl-CoA thioesterase 1"	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.409C>A	20.37:g.44477168G>T	ENSP00000217455:p.Gln137Lys		O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.09|17.09	3.300785|3.300785	0.60195|0.60195	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000487205|ENST00000217455	.|.	.|.	.|.	5.38|5.38	3.38|3.38	0.38709|0.38709	.|.	.|0.055006	.|0.85682	.|D	.|0.000000	.|T	.|0.58424	.|0.2121	L|L	0.52573|0.52573	1.65|1.65	0.53688|0.53688	D|D	0.999975|0.999975	.|P;P;B	.|0.45768	.|0.515;0.866;0.201	.|B;P;B	.|0.48270	.|0.246;0.572;0.055	.|T	.|0.61486	.|-0.7053	.|9	.|0.72032	.|D	.|0.01	.|.	12.3009|12.3009	0.54874|0.54874	0.0:0.1293:0.736:0.1347|0.0:0.1293:0.736:0.1347	.|.	.|137;84;137	.|B4DLF4;A8K8X9;O14734	.|.;.;ACOT8_HUMAN	X|K	91|137	.|.	.|ENSP00000217455:Q137K	C|Q	-|-	3|1	2|0	ACOT8|ACOT8	43910575|43910575	1.000000|1.000000	0.71417|0.71417	0.713000|0.713000	0.30519|0.30519	0.977000|0.977000	0.68977|0.68977	5.519000|5.519000	0.67074|0.67074	0.785000|0.785000	0.33685|0.33685	0.655000|0.655000	0.94253|0.94253	TGC|CAG		0.592	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		T	44477168	G	T	44477168	3	4	384	1	0	0	0	0	1	0	0	0	156	1328	46	4	566	4	ACOT8	20	44477168	Missense_Mutation	SNP	G	TCGA-BP-4970-01A-01D-1462-08	11251414	44477168	18548352	37	21360											
SLC12A5	57468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44669098	44669098	+	Silent	SNP	C	C	T	rs200570265		TCGA-BP-4970-01A-01D-1462-08	TCGA-BP-4970-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	205e81c6-235a-450f-b1f8-80c518eb3478	aeb90fcf-ea28-4119-a410-9e7ce8ddcbc9	g.chr20:44669098C>T	ENST00000454036.2	+	7	817	c.768C>T	c.(766-768)taC>taT	p.Y256Y	SLC12A5_ENST00000243964.3_Silent_p.Y233Y|SLC12A5_ENST00000372315.1_Silent_p.Y233Y	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	256					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.Y233Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCGTGTTTACGGCACCTGTG	0.547																																																1	Substitution - coding silent(1)	kidney(1)											362	278	306					20																	44669098		2203	4300	6503	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.768C>T	20.37:g.44669098C>T			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	CCDS46610.1																																																																																				0.547	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			T	44669098	C	T	44669098	2	4	384	1	0	0	0	0	0	0	0	1	14392	547	19	1		1	SLC12A5	20	44669098	Silent	SNP	C	TCGA-BP-4970-01A-01D-1462-08	191930	44669098	18356422	38	21361											
PDPN	10630	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	13936955	13936955	+	Missense_Mutation	SNP	C	C	T	rs189019995		TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr1:13936955C>T	ENST00000509009.1	+	3	304	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PDPN_ENST00000513143.1_Missense_Mutation_p.A50V|PDPN_ENST00000376057.4_Missense_Mutation_p.A168V|PDPN_ENST00000294489.6_Missense_Mutation_p.A168V|PDPN_ENST00000487038.1_Missense_Mutation_p.A50V|PDPN_ENST00000376061.4_Missense_Mutation_p.A50V|PDPN_ENST00000475043.1_Missense_Mutation_p.A50V					podoplanin									p.A168V(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		ACAGTCCACGCGCAAGAACAA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18779	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	124	113	116		503,503,149,149	-1.6	0	1		116	0,8600		0,0,4300	yes	missense,missense,missense,missense	PDPN	NM_198389.2,NM_006474.4,NM_001006625.1,NM_001006624.1	64,64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	168/237,168/239,50/119,50/121	13936955	1,13005	2203	4300	6503	SO:0001583	missense	10630			AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.260C>T	1.37:g.13936955C>T	ENSP00000422977:p.Ala87Val			Missense_Mutation	SNP	ENST00000509009.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.51	1.959758	0.34565	2.27E-4	0.0	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.28	-1.63	0.08345	.	0.819946	0.10720	N	0.641896	T	0.18718	0.0449	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.24675	0.109;0.109;0.089;0.089	B;B;B;B	0.19148	0.01;0.01;0.024;0.024	T	0.22730	-1.0208	10	0.42905	T	0.14	0.5252	2.2239	0.03979	0.3274:0.2558:0.318:0.0988	.	92;50;168;168	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	V	168;168;159;87;50;50;50;50	ENSP00000294489:A168V;ENSP00000365225:A168V;ENSP00000426302:A159V;ENSP00000422977:A87V;ENSP00000365229:A50V;ENSP00000425304:A50V;ENSP00000427537:A50V;ENSP00000426063:A50V	ENSP00000294489:A168V	A	+	2	0	PDPN	13809542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.378000	0.01068	-0.250000	0.09555	0.650000	0.86243	GCG		0.507	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		T	13936955	C	T	13936955	3	4	385	1	0	0	0	0	1	0	0	0	11690	768	27	1	513	1	PDPN	1	13936955	Missense_Mutation	SNP	C	TCGA-BP-4971-01A-01D-1462-08		13936955	235313666	1	21362											
SFRS4	6429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29481370	29481370	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr1:29481370C>A	ENST00000373795.4	-	4	650	c.416G>T	c.(415-417)cGc>cTc	p.R139L	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_Intron|RP11-242O24.5_ENST00000450108.1_RNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	139	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R139L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TTCATTTTTGCGTCCCTTGTG	0.358																																																1	Substitution - Missense(1)	kidney(1)											103	102	102					1																	29481370		2203	4300	6503	SO:0001583	missense	6429			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	protein-coding gene	gene with protein product	"SR splicing factor 4"	601940	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.416G>T	1.37:g.29481370C>A	ENSP00000362900:p.Arg139Leu		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750078	0.89753	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.15952	2.38	5.47	4.56	0.56223	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.84219	2.685	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.51084	-0.8750	10	0.87932	D	0	.	13.6944	0.62569	0.0:0.9255:0.0:0.0745	.	139	Q08170	SRSF4_HUMAN	L	139	ENSP00000362900:R139L	ENSP00000362900:R139L	R	-	2	0	SRSF4	29353957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.358000	0.79466	1.432000	0.47375	-0.145000	0.13849	CGC		0.358	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		A	29481370	C	A	29481370	3	1	385	1	0	0	0	0	1	0	0	0	14185	768	27	4	1080	4	SFRS4	1	29481370	Missense_Mutation	SNP	C	TCGA-BP-4971-01A-01D-1462-08	15544415	29481370	219769251	2	21363											
TNN	63923	broad.mit.edu;hgsc.bcm.edu	37	1	175046949	175046949	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr1:175046949G>A	ENST00000239462.4	+	2	508	c.395G>A	c.(394-396)tGc>tAc	p.C132Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	132					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.C132Y(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCGCTGCTGCCAGGGAGTC	0.542																																																1	Substitution - Missense(1)	kidney(1)											41	45	43					1																	175046949		2203	4300	6503	SO:0001583	missense	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.395G>A	1.37:g.175046949G>A	ENSP00000239462:p.Cys132Tyr		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625702	0.66901	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.33216	1.42	5.51	5.51	0.81932	.	0.280869	0.42964	D	0.000636	T	0.58337	0.2115	M	0.77712	2.385	0.51233	D	0.999919	D;D	0.76494	0.998;0.999	D;D	0.81914	0.967;0.995	T	0.61792	-0.6990	10	0.72032	D	0.01	.	17.2045	0.86914	0.0:0.0:1.0:0.0	.	132;132	B3KXB6;Q9UQP3	.;TENN_HUMAN	Y	132	ENSP00000239462:C132Y	ENSP00000239462:C132Y	C	+	2	0	TNN	173313572	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	6.943000	0.75934	2.600000	0.87896	0.655000	0.94253	TGC		0.542	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		A	175046949	G	A	175046949	3	1	385	1	0	0	0	0	1	0	0	0	16328	1319	46	2	397	2	TNN	1	175046949	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08	145565579	175046949	74203672	3	21364											
CAMSAP1L1	23271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200817766	200817767	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr1:200817766_200817767GG>AT	ENST00000236925.4	+	12	1951_1952	c.1902_1903GG>AT	c.(1900-1905)atGGac>atATac	p.634_635MD>IY	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.623_624MD>IY|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.607_608MD>IY			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	634					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.M623I(1)|p.D624Y(1)|p.M623>?(1)									CTGAAACTATGGACGAAGATTC	0.386																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	Exception_encountered	1.37:g.200817766_200817767delinsAT	ENSP00000236925:p.M634_D635delinsIY		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37																																																																																					0.386	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		AT	200817767	GG	AT	200817766	3	1	385	1	0	0	0	0	1	0	0	0	2614	1348	47	2	1911	2	CAMSAP1L1	1	200817766	Missense_Mutation	DNP	GG	TCGA-BP-4971-01A-01D-1462-08	25770817	200817766	48432855	4	21365											
GIGYF2	26058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	233677188	233677188	+	Silent	SNP	T	T	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr2:233677188T>C	ENST00000409547.1	+	20	2405	c.2094T>C	c.(2092-2094)gcT>gcC	p.A698A	GIGYF2_ENST00000452341.2_Silent_p.A529A|GIGYF2_ENST00000373566.3_Silent_p.A720A|GIGYF2_ENST00000409196.3_Silent_p.A692A|GIGYF2_ENST00000373563.4_Silent_p.A698A|GIGYF2_ENST00000409480.1_Silent_p.A720A|GIGYF2_ENST00000409451.3_Silent_p.A719A	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	698	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A698A(1)|p.A719A(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCCAACAGCTTCACAGCCTA	0.378																																																2	Substitution - coding silent(2)	kidney(2)											69	66	67					2																	233677188		2203	4300	6503	SO:0001819	synonymous_variant	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2094T>C	2.37:g.233677188T>C			A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	CCDS33401.1																																																																																				0.378	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		C	233677188	T	C	233677188	2	2	385	1	0	0	0	0	0	0	0	1	6380	1596	56	3		3	GIGYF2	2	233677188	Silent	SNP	T	TCGA-BP-4971-01A-01D-1462-08		233677188	9522185	5	21366											
GBX2	2637	broad.mit.edu	37	2	237076138	237076138	+	Silent	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr2:237076138G>A	ENST00000306318.4	-	1	874	c.477C>T	c.(475-477)ggC>ggT	p.G159G	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'Flank|GBX2_ENST00000551105.1_Silent_p.G159G	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	159				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). {ECO:0000305}.	autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G159G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGAGCAGCGAGCCCTCTTTGG	0.746																																																1	Substitution - coding silent(1)	kidney(1)											14	14	14					2																	237076138		2149	4236	6385	SO:0001819	synonymous_variant	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.477C>T	2.37:g.237076138G>A			B2RPH7|O43833|Q53RX5|Q9Y5Y1	Silent	SNP	ENST00000306318.4	37	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485060	0.26598	.	.	ENSG00000233611	ENST00000415226	.	.	.	4.6	3.71	0.42584	.	.	.	.	.	T	0.69251	0.3090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67818	-0.5572	4	.	.	.	-14.8695	13.9591	0.64168	0.0:0.2879:0.7121:0.0	.	.	.	.	T	17	.	.	A	+	1	0	AC079135.1	236740877	0.918000	0.31147	1.000000	0.80357	0.979000	0.70002	0.249000	0.18216	0.903000	0.36546	0.462000	0.41574	GCC		0.746	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		A	237076138	G	A	237076138	2	1	385	1	0	0	0	0	0	0	0	1	6283	958	34	2		2	GBX2	2	237076138	Silent	SNP	G	TCGA-BP-4971-01A-01D-1462-08	3398950	237076138	6123235	6	21367											
IQSEC1	9922	broad.mit.edu	37	3	12949880	12949880	+	Silent	SNP	G	G	T	rs372057625		TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr3:12949880G>T	ENST00000273221.4	-	12	2982	c.2766C>A	c.(2764-2766)ctC>ctA	p.L922L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	922					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L922L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGAGCTGCTGAGGGCGCTGC	0.637																																																1	Substitution - coding silent(1)	kidney(1)											38	38	38					3																	12949880		2203	4300	6503	SO:0001819	synonymous_variant	9922			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2766C>A	3.37:g.12949880G>T			O94863|Q96D85	Silent	SNP	ENST00000273221.4	37	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	9.295	1.051693	0.19827	.	.	ENSG00000144711	ENST00000450726	.	.	.	4.88	3.98	0.46160	.	.	.	.	.	T	0.59307	0.2184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55554	-0.8123	4	.	.	.	.	9.3142	0.37924	0.0786:0.413:0.5083:0.0	.	.	.	.	K	923	.	.	Q	-	1	0	IQSEC1	12924880	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.694000	0.37752	0.989000	0.38761	0.655000	0.94253	CAG		0.637	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		T	12949880	G	T	12949880	2	4	385	1	0	0	0	0	0	0	0	1	7819	1277	45	4		4	IQSEC1	3	12949880	Silent	SNP	G	TCGA-BP-4971-01A-01D-1462-08		12949880	185072550	7	21368											
KAT2B	8850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	20153265	20153265	+	Silent	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr3:20153265C>T	ENST00000263754.4	+	6	1484	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	343					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.L343L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CTCTAATCCTCACTCATTTCC	0.423																																																1	Substitution - coding silent(1)	kidney(1)											93	85	88					3																	20153265		2203	4300	6503	SO:0001819	synonymous_variant	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1029C>T	3.37:g.20153265C>T			Q6NSK1	Silent	SNP	ENST00000263754.4	37	CCDS2634.1																																																																																				0.423	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		T	20153265	C	T	20153265	2	4	385	1	0	0	0	0	0	0	0	1	7984	813	29	2		2	KAT2B	3	20153265	Silent	SNP	C	TCGA-BP-4971-01A-01D-1462-08	7203385	20153265	177869165	8	21369											
KBTBD8	84541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	67054477	67054477	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr3:67054477G>T	ENST00000417314.2	+	3	1135	c.1086G>T	c.(1084-1086)atG>atT	p.M362I	KBTBD8_ENST00000295568.4_Missense_Mutation_p.M336I|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	362						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.M336I(1)|p.M362I(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATTTCTGGATGTATGATCATT	0.433																																																2	Substitution - Missense(2)	kidney(2)											133	121	125					3																	67054477		2203	4300	6503	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1086G>T	3.37:g.67054477G>T	ENSP00000401878:p.Met362Ile		B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320825	0.41096	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.76968	-1.06;-1.06	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.090151	0.85682	D	0.000000	T	0.68650	0.3024	N	0.22421	0.69	0.41384	D	0.987571	B	0.32396	0.369	B	0.36335	0.222	T	0.65348	-0.6190	9	.	.	.	.	17.626	0.88095	0.0:0.0:1.0:0.0	.	362	Q8NFY9	KBTB8_HUMAN	I	336;362	ENSP00000295568:M336I;ENSP00000401878:M362I	.	M	+	3	0	KBTBD8	67137167	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.549000	0.73900	2.676000	0.91093	0.557000	0.71058	ATG		0.433	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		T	67054477	G	T	67054477	3	4	385	1	0	0	0	0	1	0	0	0	8001	1377	48	4	1096	4	KBTBD8	3	67054477	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08	46901212	67054477	130967953	9	21370											
RPL22L1	200916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170584196	170584196	+	Silent	SNP	A	A	G			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr3:170584196A>G	ENST00000295830.8	-	4	657	c.342T>C	c.(340-342)gaT>gaC	p.D114D	RPL22L1_ENST00000463836.1_Silent_p.D113D	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	114					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)	p.D114D(1)		kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATTCATCTTCATCTTGACTAA	0.393																																																1	Substitution - coding silent(1)	kidney(1)											49	45	47					3																	170584196		1836	4095	5931	SO:0001819	synonymous_variant	200916			BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.342T>C	3.37:g.170584196A>G			Q32Q77	Silent	SNP	ENST00000295830.8	37	CCDS46955.1																																																																																				0.393	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317		G	170584196	A	G	170584196	2	3	385	1	0	0	0	0	0	0	0	1	13575	214	8	3		3	RPL22L1	3	170584196	Silent	SNP	A	TCGA-BP-4971-01A-01D-1462-08	103529719	170584196	27438234	10	21371											
ALB	213	hgsc.bcm.edu;ucsc.edu	37	4	74283260	74283260	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr4:74283260delT	ENST00000503124.1	+	9	1059	c.852delT	c.(850-852)cgtfs	p.R284fs	ALB_ENST00000415165.2_Frame_Shift_Del_p.R242fs|ALB_ENST00000505649.1_Intron|ALB_ENST00000509063.1_Frame_Shift_Del_p.R434fs|ALB_ENST00000295897.4_Frame_Shift_Del_p.R434fs|ALB_ENST00000401494.3_Frame_Shift_Del_p.R319fs			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TATTAGTTCGTTACACCAAGA	0.403																																																0													88	90	90					4																	74283260		2203	4300	6503	SO:0001589	frameshift_variant	213			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.852delT	4.37:g.74283260delT	ENSP00000421027:p.Arg284fs		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Frame_Shift_Del	DEL	ENST00000503124.1	37																																																																																					0.403	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		-	74283260	T	-	74283260	7	5	385	1	0	1	0	1	0	0	0	0	486	1712	60	0	1344	0	ALB	4	74283260	Frame_Shift_Del	DEL	T	TCGA-BP-4971-01A-01D-1462-08		74283260	116871016	11	21372											
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	79369243	79369243	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr4:79369243T>C	ENST00000264895.6	+	44	6487	c.6047T>C	c.(6046-6048)cTg>cCg	p.L2016P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2016					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.L2016P(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTGAGCCTCTGGAGAATGGG	0.468																																																2	Substitution - Missense(2)	kidney(2)											78	76	77					4																	79369243		1914	4135	6049	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6047T>C	4.37:g.79369243T>C	ENSP00000264895:p.Leu2016Pro		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756572	0.31137	.	.	ENSG00000138759	ENST00000264895	T	0.50277	0.75	5.68	5.68	0.88126	.	0.080568	0.51477	D	0.000094	T	0.46328	0.1387	M	0.73372	2.23	0.80722	D	1	P	0.35107	0.484	B	0.32211	0.142	T	0.48937	-0.8990	10	0.45353	T	0.12	.	11.8352	0.52319	0.0:0.0701:0.0:0.9299	.	2016	E9PHH6	.	P	2016	ENSP00000264895:L2016P	ENSP00000264895:L2016P	L	+	2	0	FRAS1	79588267	1.000000	0.71417	0.992000	0.48379	0.468000	0.32798	3.115000	0.50391	2.179000	0.69175	0.477000	0.44152	CTG		0.468	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	79369243	T	C	79369243	3	2	385	1	0	0	0	0	1	0	0	0	6044	1580	55	3	6296	3	FRAS1	4	79369243	Missense_Mutation	SNP	T	TCGA-BP-4971-01A-01D-1462-08	5085983	79369243	111785033	12	21373											
TERT	7015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	1282650	1282650	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr5:1282650C>G	ENST00000310581.5	-	3	1720	c.1663G>C	c.(1663-1665)Gag>Cag	p.E555Q	TERT_ENST00000508104.2_Missense_Mutation_p.E555Q|TERT_ENST00000296820.5_Missense_Mutation_p.E555Q|TERT_ENST00000334602.6_Missense_Mutation_p.E555Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	555					DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.E555Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTGAGCAGCTCGACGACGTAC	0.527									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																							2	Substitution - Missense(2)	kidney(2)											132	121	125					5																	1282650		2203	4300	6503	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1663G>C	5.37:g.1282650C>G	ENSP00000309572:p.Glu555Gln		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	7.167	0.586967	0.13749	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	4.64	3.74	0.42951	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.366373	0.30593	N	0.009285	T	0.80088	0.4559	L	0.28192	0.835	0.27626	N	0.94818	B;P;B	0.40032	0.14;0.699;0.169	B;P;B	0.46419	0.142;0.516;0.222	T	0.69756	-0.5059	10	0.18276	T	0.48	-0.2338	13.0319	0.58847	0.0:0.6773:0.3227:0.0	.	555;555;555	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	Q	555	ENSP00000309572:E555Q;ENSP00000296820:E555Q;ENSP00000334346:E555Q;ENSP00000426042:E555Q	ENSP00000296820:E555Q	E	-	1	0	TERT	1335650	0.268000	0.24133	0.139000	0.22197	0.043000	0.13939	0.808000	0.27154	0.889000	0.36185	0.462000	0.41574	GAG		0.527	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			G	1282650	C	G	1282650	3	3	385	1	0	0	0	0	1	0	0	0	15769	893	31	4	1791	4	TERT	5	1282650	Missense_Mutation	SNP	C	TCGA-BP-4971-01A-01D-1462-08		1282650	179632610	13	21374											
ANKH	56172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	14711323	14711323	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr5:14711323T>A	ENST00000284268.6	-	12	1792	c.1462A>T	c.(1462-1464)Aga>Tga	p.R488*	ANKH_ENST00000535119.1_Nonsense_Mutation_p.R290*	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	488					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.R488*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTCCTCTCTCATTTCCACG	0.527																																																1	Substitution - Nonsense(1)	kidney(1)											289	245	260					5																	14711323		2203	4300	6503	SO:0001587	stop_gained	56172			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1462A>T	5.37:g.14711323T>A	ENSP00000284268:p.Arg488*		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Nonsense_Mutation	SNP	ENST00000284268.6	37	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	T	40	8.042527	0.98624	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	.	.	.	5.17	-0.391	0.12446	.	0.166280	0.53938	D	0.000044	.	.	.	.	.	.	0.58432	A	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.6076	14.4031	0.67063	0.0:0.0:0.5817:0.4183	.	.	.	.	X	290;488	.	ENSP00000284268:R488X	R	-	1	2	ANKH	14764323	1.000000	0.71417	0.740000	0.30986	0.987000	0.75469	0.984000	0.29565	-0.320000	0.08640	0.533000	0.62120	AGA		0.527	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		A	14711323	T	A	14711323	4	1	385	1	0	0	0	0	0	1	0	0	627	1559	54	5	20	5	ANKH	5	14711323	Nonsense_Mutation	SNP	T	TCGA-BP-4971-01A-01D-1462-08	13428673	14711323	166203937	14	21375											
POC5	134359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	74981284	74981284	+	Missense_Mutation	SNP	C	C	A	rs202094495	byFrequency	TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr5:74981284C>A	ENST00000428202.2	-	10	1344	c.1155G>T	c.(1153-1155)aaG>aaT	p.K385N	POC5_ENST00000446329.2_Missense_Mutation_p.K360N|POC5_ENST00000514838.2_Missense_Mutation_p.K357N|POC5_ENST00000510798.1_Missense_Mutation_p.K268N|POC5_ENST00000380475.2_Missense_Mutation_p.K268N	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	385					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K359N(1)|p.K385N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATACTCTTCCTTTTTATTAT	0.388																																																2	Substitution - Missense(2)	kidney(2)											166	173	171					5																	74981284		1905	4132	6037	SO:0001583	missense	134359			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1155G>T	5.37:g.74981284C>A	ENSP00000410216:p.Lys385Asn		B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293649	0.23564	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.49139	1.83;1.42;0.79;0.79;1.83	4.36	1.64	0.23874	.	0.389863	0.32357	N	0.006216	T	0.35393	0.0930	L	0.52364	1.645	0.28941	N	0.890997	B;B;B	0.17268	0.021;0.008;0.003	B;B;B	0.15484	0.013;0.005;0.005	T	0.26087	-1.0113	10	0.51188	T	0.08	-9.0762	4.1139	0.10072	0.1829:0.6241:0.0:0.193	.	268;385;360	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	N	385;357;268;268;360	ENSP00000410216:K385N;ENSP00000420971:K357N;ENSP00000369842:K268N;ENSP00000426796:K268N;ENSP00000399481:K360N	ENSP00000369842:K268N	K	-	3	2	POC5	75017040	0.310000	0.24527	0.734000	0.30879	0.827000	0.46813	-0.286000	0.08399	0.362000	0.24319	-0.268000	0.10319	AAG		0.388	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		A	74981284	C	A	74981284	3	1	385	1	0	0	0	0	1	0	0	0	12179	680	24	4	584	4	POC5	5	74981284	Missense_Mutation	SNP	C	TCGA-BP-4971-01A-01D-1462-08	60269961	74981284	105933976	15	21376											
PCDHA5	56143	broad.mit.edu	37	5	140201665	140201665	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr5:140201665G>A	ENST00000529859.1	+	1	305	c.305G>A	c.(304-306)aGc>aAc	p.S102N	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S102N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S102N|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	102	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S102N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGTGCAGCATCCACCTG	0.582																																																2	Substitution - Missense(2)	kidney(2)											83	94	90					5																	140201665		2203	4300	6503	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.305G>A	5.37:g.140201665G>A	ENSP00000436557:p.Ser102Asn		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290023	0.23478	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.28255	1.62;1.62;1.62	3.97	3.1	0.35709	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.27866	0.0686	M	0.69463	2.115	0.09310	N	1	B;B;B	0.14012	0.009;0.003;0.003	B;B;B	0.12156	0.007;0.003;0.004	T	0.31223	-0.9951	9	0.42905	T	0.14	.	2.7749	0.05345	0.092:0.2185:0.4232:0.2662	.	102;102;102	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	N	102	ENSP00000433416:S102N;ENSP00000436557:S102N;ENSP00000367366:S102N	ENSP00000367366:S102N	S	+	2	0	PCDHA5	140181849	0.000000	0.05858	0.997000	0.53966	0.975000	0.68041	0.811000	0.27198	0.798000	0.33994	0.580000	0.79431	AGC		0.582	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		A	140201665	G	A	140201665	3	1	385	1	0	0	0	0	1	0	0	0	11529	971	34	2	307	2	PCDHA5	5	140201665	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08	65220381	140201665	40713595	16	21377											
MUC21	394263	broad.mit.edu;hgsc.bcm.edu	37	6	30954884	30954884	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr6:30954884G>C	ENST00000376296.3	+	2	1173	c.932G>C	c.(931-933)gGg>gCg	p.G311A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	311	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G311A(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCTCCAGTGGGGCCAACACA	0.607																																																1	Substitution - Missense(1)	kidney(1)											162	156	158					6																	30954884		2203	4300	6503	SO:0001583	missense	394263			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.932G>C	6.37:g.30954884G>C	ENSP00000365473:p.Gly311Ala		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.416862	0.01136	.	.	ENSG00000204544	ENST00000376296	T	0.01685	4.69	3.74	-3.0	0.05480	.	.	.	.	.	T	0.00384	0.0012	N	0.24115	0.695	0.09310	N	1	P	0.37101	0.582	B	0.31686	0.134	T	0.44251	-0.9340	8	.	.	.	0.0454	5.3409	0.15982	0.336:0.2526:0.4114:0.0	.	311	Q5SSG8	MUC21_HUMAN	A	311	ENSP00000365473:G311A	.	G	+	2	0	MUC21	31062863	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.276000	0.02815	-0.720000	0.04935	-0.339000	0.08088	GGG		0.607	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		C	30954884	G	C	30954884	3	2	385	1	0	0	0	0	1	0	0	0	9979	1232	43	4	938	4	MUC21	6	30954884	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08		30954884	140160183	17	21378											
VPS41	27072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	38857441	38857441	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr7:38857441C>A	ENST00000310301.4	-	7	480	c.426G>T	c.(424-426)aaG>aaT	p.K142N	VPS41_ENST00000395969.2_Missense_Mutation_p.K117N	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	142					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.K142N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCACAAACTGCTTGCAACTGG	0.443																																																1	Substitution - Missense(1)	kidney(1)											206	173	184					7																	38857441		2203	4300	6503	SO:0001583	missense	27072			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.426G>T	7.37:g.38857441C>A	ENSP00000309457:p.Lys142Asn		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656173	0.67586	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000413141;ENST00000414632;ENST00000418457	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.01	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	L	0.54323	1.7	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.65038	-0.6265	10	0.46703	T	0.11	-18.7305	11.8911	0.52630	0.0:0.9179:0.0:0.0821	.	142;117;142	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	N	142;117;68;129;92	ENSP00000309457:K142N;ENSP00000379297:K117N;ENSP00000412974:K68N;ENSP00000411919:K129N;ENSP00000407835:K92N	ENSP00000265745:K142N	K	-	3	2	VPS41	38823966	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.423000	0.44705	1.101000	0.41535	0.460000	0.39030	AAG		0.443	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			A	38857441	C	A	38857441	3	1	385	1	0	0	0	0	1	0	0	0	17215	796	28	4	2230	4	VPS41	7	38857441	Missense_Mutation	SNP	C	TCGA-BP-4971-01A-01D-1462-08		38857441	120281222	18	21379											
TRRAP	8295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	98601971	98601971	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr7:98601971G>C	ENST00000359863.4	+	67	10635	c.10426G>C	c.(10426-10428)Gct>Cct	p.A3476P	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3465P|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3447P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3476					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.A3447P(1)|p.A3476P(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCACAGACAGCTGAAGTGGA	0.488																																																2	Substitution - Missense(2)	kidney(2)											91	98	95					7																	98601971		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10426G>C	7.37:g.98601971G>C	ENSP00000352925:p.Ala3476Pro		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.271991|5.271991	0.95429|0.95429	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.80214|.	-1.35;-1.35|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82370|0.82370	0.5022|0.5022	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	T|T	0.83080|0.83080	-0.0138|-0.0138	10|5	0.36615|.	T|.	0.2|.	.|.	19.3185|19.3185	0.94226|0.94226	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3447;3204;3476|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	P|H	3476;3447;3464|3204	ENSP00000352925:A3476P;ENSP00000347733:A3447P|.	ENSP00000347733:A3447P|.	A|Q	+|+	1|3	0|2	TRRAP|TRRAP	98439907|98439907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.869000|9.869000	0.99810|0.99810	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GCT|CAG		0.488	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		C	98601971	G	C	98601971	3	2	385	1	0	0	0	0	1	0	0	0	16606	971	34	4	10597	4	TRRAP	7	98601971	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08	59744530	98601971	60536692	19	21380											
DNAJC2	27000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	102960089	102960089	+	Silent	SNP	T	T	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr7:102960089T>A	ENST00000379263.3	-	12	1459	c.1209A>T	c.(1207-1209)acA>acT	p.T403T	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	403					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)	p.T361T(1)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTACTTCTTTTGTGCATGATG	0.358																																																1	Substitution - coding silent(1)	kidney(1)											122	115	117					7																	102960089		1862	4102	5964	SO:0001819	synonymous_variant	27000			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1209A>T	7.37:g.102960089T>A			A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	CCDS43628.1																																																																																				0.358	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			A	102960089	T	A	102960089	2	1	385	1	0	0	0	0	0	0	0	1	4641	1799	63	5		5	DNAJC2	7	102960089	Silent	SNP	T	TCGA-BP-4971-01A-01D-1462-08	4358118	102960089	56178574	20	21381											
KEL	3792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	142655413	142655413	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr7:142655413G>A	ENST00000355265.2	-	5	977	c.503C>T	c.(502-504)cCc>cTc	p.P168L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	168					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.P168L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTGTCTGAGGGGACCAGTCCC	0.473																																																1	Substitution - Missense(1)	kidney(1)											99	94	96					7																	142655413		2203	4300	6503	SO:0001583	missense	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.503C>T	7.37:g.142655413G>A	ENSP00000347409:p.Pro168Leu		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529614	0.85706	.	.	ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543	T;T;T	0.79940	-1.32;-1.32;-1.32	5.82	5.82	0.92795	Peptidase M13 (1);	0.117288	0.38778	N	0.001573	D	0.85570	0.5727	L	0.58101	1.795	0.58432	D	0.999999	P	0.51537	0.946	P	0.56514	0.8	D	0.86525	0.1818	10	0.87932	D	0	-0.7561	15.5946	0.76569	0.0:0.0:1.0:0.0	.	168	P23276	KELL_HUMAN	L	168;168;149	ENSP00000347409:P168L;ENSP00000419889:P168L;ENSP00000420011:P149L	ENSP00000347409:P168L	P	-	2	0	KEL	142365535	1.000000	0.71417	0.992000	0.48379	0.928000	0.56348	5.111000	0.64628	2.752000	0.94435	0.585000	0.79938	CCC		0.473	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142655413	G	A	142655413	3	1	385	1	0	0	0	0	1	0	0	0	8144	1232	43	2	1755	2	KEL	7	142655413	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08	39695324	142655413	16483250	21	21382											
DPP6	1804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	154172047	154172047	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr7:154172047A>C	ENST00000377770.3	+	3	523	c.382A>C	c.(382-384)Aag>Cag	p.K128Q	DPP6_ENST00000332007.3_Missense_Mutation_p.K66Q|DPP6_ENST00000404039.1_Missense_Mutation_p.K64Q|DPP6_ENST00000427557.1_Missense_Mutation_p.K66Q|DPP6_ENST00000406326.1_Missense_Mutation_p.K128Q|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	128					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.K128Q(2)|p.K66Q(1)|p.K64Q(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGTCTCAAAAGAAGAAGGT	0.378																																					NSCLC(125;1384 1783 2490 7422 34254)											4	Substitution - Missense(4)	kidney(4)											80	77	78					7																	154172047		1872	4097	5969	SO:0001583	missense	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.382A>C	7.37:g.154172047A>C	ENSP00000367001:p.Lys128Gln			Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	A	16.89	3.246612	0.59103	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.16	5.16	0.70880	.	0.046275	0.85682	D	0.000000	T	0.63177	0.2489	.	.	.	0.43745	D	0.996244	P;D;D;D;D;D	0.71674	0.93;0.984;0.99;0.996;0.998;0.992	P;P;P;P;D;P	0.70227	0.598;0.839;0.673;0.702;0.968;0.559	T	0.62105	-0.6924	9	0.34782	T	0.22	-25.7203	11.6719	0.51406	1.0:0.0:0.0:0.0	.	66;66;66;128;128;64	E9PDL2;B7Z1K3;P42658-2;P42658;Q8IYG9;E9PF59	.;.;.;DPP6_HUMAN;.;.	Q	64;128;128;66;66	ENSP00000385578:K64Q;ENSP00000384393:K128Q;ENSP00000367001:K128Q;ENSP00000328226:K66Q;ENSP00000397303:K66Q	ENSP00000328226:K66Q	K	+	1	0	DPP6	153802980	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.059000	0.76684	2.050000	0.60909	0.528000	0.53228	AAG		0.378	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		C	154172047	A	C	154172047	3	2	385	1	0	0	0	0	1	0	0	0	4732	15	1	5	508	5	DPP6	7	154172047	Missense_Mutation	SNP	A	TCGA-BP-4971-01A-01D-1462-08	11516634	154172047	4966616	22	21383											
WNK2	65268	broad.mit.edu;ucsc.edu	37	9	96002217	96002217	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr9:96002217G>T	ENST00000297954.4	+	6	1501	c.1501G>T	c.(1501-1503)Gac>Tac	p.D501Y	WNK2_ENST00000395475.2_Missense_Mutation_p.D487Y|WNK2_ENST00000427277.2_Missense_Mutation_p.D113Y|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.D501Y|WNK2_ENST00000349097.3_Missense_Mutation_p.D113Y	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	501					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D501Y(1)|p.D487Y(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTTCACCTTCGACCTGGAGAA	0.582																																																2	Substitution - Missense(2)	kidney(2)											55	47	50					9																	96002217		2203	4297	6500	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1501G>T	9.37:g.96002217G>T	ENSP00000297954:p.Asp501Tyr		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.568702|3.568702	0.65651|0.65651	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T;T;T|.	0.37235|.	1.21;1.21;1.21;1.21;1.21;1.21|.	4.59|4.59	4.59|4.59	0.56863|0.56863	Serine/threonine-protein kinase OSR1/WNK, CCT domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71333|0.71333	0.3327|0.3327	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.997;0.999;0.999;0.999|.	T|T	0.70575|0.70575	-0.4834|-0.4834	10|5	0.87932|.	D|.	0|.	.|.	17.7431|17.7431	0.88412|0.88412	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	501;501;104;501;501|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;.;WNK2_HUMAN|.	Y|L	501;501;501;487;113;113|104	ENSP00000412465:D501Y;ENSP00000297954:D501Y;ENSP00000378860:D501Y;ENSP00000378858:D487Y;ENSP00000297876:D113Y;ENSP00000411181:D113Y|.	ENSP00000297954:D501Y|.	D|R	+|+	1|2	0|0	WNK2|WNK2	95042038|95042038	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.976000|0.976000	0.68499|0.68499	9.673000|9.673000	0.98631|0.98631	2.241000|2.241000	0.73720|0.73720	0.462000|0.462000	0.41574|0.41574	GAC|CGA		0.582	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		T	96002217	G	T	96002217	3	4	385	1	0	0	0	0	1	0	0	0	17383	1058	37	4	1523	4	WNK2	9	96002217	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08		96002217	45211214	23	21384											
ANO3	63982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	26563538	26563538	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr11:26563538G>T	ENST00000256737.3	+	11	1929	c.1077G>T	c.(1075-1077)caG>caT	p.Q359H	ANO3_ENST00000531568.1_Missense_Mutation_p.Q213H|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.Q343H|ANO3_ENST00000525139.1_Missense_Mutation_p.Q343H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	359					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.Q359H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATGGACCTCAGAATAACAGAC	0.398																																																1	Substitution - Missense(1)	kidney(1)											71	68	69					11																	26563538		2203	4299	6502	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1077G>T	11.37:g.26563538G>T	ENSP00000256737:p.Gln359His		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406711	0.62399	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.49	2.61	0.31194	.	0.214766	0.44285	D	0.000466	T	0.61160	0.2325	L	0.44542	1.39	0.58432	D	0.999992	P;D	0.60575	0.835;0.988	P;P	0.56751	0.615;0.805	T	0.55049	-0.8201	10	0.16420	T	0.52	.	9.2142	0.37337	0.289:0.0:0.711:0.0	.	261;359	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	H	343;343;359;261;213	ENSP00000440737:Q343H;ENSP00000432576:Q343H;ENSP00000256737:Q359H;ENSP00000432394:Q213H	ENSP00000256737:Q359H	Q	+	3	2	ANO3	26520114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.124000	0.31320	0.690000	0.31570	0.655000	0.94253	CAG		0.398	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		T	26563538	G	T	26563538	3	4	385	1	0	0	0	0	1	0	0	0	698	933	33	4	1119	4	ANO3	11	26563538	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08		26563538	108442978	24	21385											
DPP3	10072	broad.mit.edu;hgsc.bcm.edu	37	11	66255471	66255471	+	Silent	SNP	T	T	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr11:66255471T>A	ENST00000360510.2	+	6	725	c.660T>A	c.(658-660)ctT>ctA	p.L220L	DPP3_ENST00000453114.1_Silent_p.L220L|DPP3_ENST00000531863.1_Silent_p.L240L|DPP3_ENST00000532677.1_Silent_p.L239L|DPP3_ENST00000530165.1_Silent_p.L190L|DPP3_ENST00000541961.1_Silent_p.L220L			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	220					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L220L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCTGTGCTTGGCTCAGGTG	0.582																																																1	Substitution - coding silent(1)	kidney(1)											70	63	65					11																	66255471		2200	4295	6495	SO:0001819	synonymous_variant	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.660T>A	11.37:g.66255471T>A			B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	CCDS8141.1																																																																																				0.582	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			A	66255471	T	A	66255471	2	1	385	1	0	0	0	0	0	0	0	1	4730	1799	63	5		5	DPP3	11	66255471	Silent	SNP	T	TCGA-BP-4971-01A-01D-1462-08	39691933	66255471	68751045	25	21386											
RSF1	51773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77378304	77378304	+	Silent	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr11:77378304C>T	ENST00000308488.6	-	16	4286	c.3984G>A	c.(3982-3984)agG>agA	p.R1328R	RSF1_ENST00000480887.1_Silent_p.R1076R|RSF1_ENST00000360355.2_Silent_p.R1297R			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1328					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.R1328R(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGGGCAGGACCCTAGGCTGGC	0.537																																																1	Substitution - coding silent(1)	kidney(1)											129	120	123					11																	77378304		2200	4292	6492	SO:0001819	synonymous_variant	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3984G>A	11.37:g.77378304C>T			Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	CCDS8253.1																																																																																				0.537	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		T	77378304	C	T	77378304	2	4	385	1	0	0	0	0	0	0	0	1	13705	622	22	2		2	RSF1	11	77378304	Silent	SNP	C	TCGA-BP-4971-01A-01D-1462-08	11122833	77378304	57628212	26	21387											
SYTL2	54843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	85416035	85416035	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr11:85416035A>C	ENST00000528231.1	-	14	2417	c.2140T>G	c.(2140-2142)Ttg>Gtg	p.L714V	SYTL2_ENST00000525702.1_Missense_Mutation_p.L156V|SYTL2_ENST00000359152.5_Missense_Mutation_p.L1560V|SYTL2_ENST00000525423.1_Missense_Mutation_p.L1036V|SYTL2_ENST00000389958.3_Missense_Mutation_p.L145V|SYTL2_ENST00000533892.1_Missense_Mutation_p.L116V|SYTL2_ENST00000529581.1_Missense_Mutation_p.L156V|SYTL2_ENST00000527523.1_Missense_Mutation_p.L682V|SYTL2_ENST00000524452.1_Missense_Mutation_p.L690V|SYTL2_ENST00000354566.3_Missense_Mutation_p.L1052V|SYTL2_ENST00000316356.4_Missense_Mutation_p.L715V|SYTL2_ENST00000389960.4_Missense_Mutation_p.L690V	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	714	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.L715V(1)|p.L1052V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GACAGGTTCAATTTCTGTGTC	0.343																																																2	Substitution - Missense(2)	kidney(2)											135	126	129					11																	85416035		2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2140T>G	11.37:g.85416035A>C	ENSP00000431701:p.Leu714Val		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584243	0.65992	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452;ENST00000533057;ENST00000527794	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.44	2.56	0.30785	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	M	0.79614	2.46	0.54753	D	0.999986	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;0.999;0.994;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.976;1.0;1.0;0.966;1.0;0.996;0.975;1.0;1.0;0.999	T	0.20605	-1.0270	9	.	.	.	-5.6823	10.1255	0.42648	0.2196:0.0:0.7804:0.0	.	682;690;714;715;532;1012;1036;1052;145;116	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	V	690;1560;1052;715;156;1036;156;145;431;714;116;682;690;80;116	ENSP00000374610:L690V;ENSP00000352065:L1560V;ENSP00000346576:L1052V;ENSP00000318803:L715V;ENSP00000432996:L156V;ENSP00000432694:L1036V;ENSP00000435855:L156V;ENSP00000374608:L145V;ENSP00000435009:L431V;ENSP00000431701:L714V;ENSP00000432144:L116V;ENSP00000434010:L682V;ENSP00000435238:L690V;ENSP00000436164:L80V;ENSP00000437005:L116V	.	L	-	1	2	SYTL2	85093683	0.992000	0.36948	0.988000	0.46212	0.852000	0.48524	2.057000	0.41365	0.260000	0.21731	-0.251000	0.11542	TTG		0.343	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		C	85416035	A	C	85416035	3	2	385	1	0	0	0	0	1	0	0	0	15488	98	4	5	684	5	SYTL2	11	85416035	Missense_Mutation	SNP	A	TCGA-BP-4971-01A-01D-1462-08	8037731	85416035	49590481	27	21388											
NOX4	50507	broad.mit.edu;hgsc.bcm.edu	37	11	89135577	89135577	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr11:89135577A>T	ENST00000263317.4	-	9	1001	c.763T>A	c.(763-765)Ttt>Att	p.F255I	NOX4_ENST00000535633.1_Missense_Mutation_p.F231I|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.F276I|NOX4_ENST00000343727.5_Missense_Mutation_p.F231I|NOX4_ENST00000527956.1_Missense_Mutation_p.F231I|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.F255I|NOX4_ENST00000542487.1_Missense_Mutation_p.F231I|NOX4_ENST00000424319.1_Missense_Mutation_p.F231I|NOX4_ENST00000532825.1_Missense_Mutation_p.F231I|NOX4_ENST00000527626.1_Missense_Mutation_p.F89I|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Missense_Mutation_p.F230I			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	255	Ferric oxidoreductase.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.F255I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGTTTTGAAAATCCTTCAGGG	0.423																																																1	Substitution - Missense(1)	kidney(1)											81	89	86					11																	89135577		2201	4298	6499	SO:0001583	missense	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.763T>A	11.37:g.89135577A>T	ENSP00000263317:p.Phe255Ile		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	1.482	-0.557054	0.03967	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.94931	-3.5;-3.5;-3.5;-3.47;-3.43;-3.56;-3.5;-3.5;-3.24;-3.47;-3.54	4.07	-1.49	0.08718	.	0.840445	0.10600	N	0.655757	D	0.88437	0.6436	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B	0.23650	0.072;0.031;0.031;0.089;0.006	B;B;B;B;B	0.20184	0.028;0.02;0.013;0.028;0.003	T	0.74931	-0.3496	9	.	.	.	-1.4638	3.6872	0.08332	0.5259:0.0:0.2258:0.2482	.	231;89;230;255;255	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	I	231;231;231;255;255;231;231;231;89;230;276	ENSP00000412446:F231I;ENSP00000440172:F231I;ENSP00000344747:F231I;ENSP00000436892:F255I;ENSP00000263317:F255I;ENSP00000434924:F231I;ENSP00000433797:F231I;ENSP00000439373:F231I;ENSP00000436093:F89I;ENSP00000436970:F230I;ENSP00000405705:F276I	.	F	-	1	0	NOX4	88775225	0.651000	0.27340	0.021000	0.16686	0.015000	0.08874	0.921000	0.28718	-0.540000	0.06265	0.383000	0.25322	TTT		0.423	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		T	89135577	A	T	89135577	3	4	385	1	0	0	0	0	1	0	0	0	10560	101	4	5	1013	5	NOX4	11	89135577	Missense_Mutation	SNP	A	TCGA-BP-4971-01A-01D-1462-08	3719542	89135577	45870939	28	21389											
PZP	5858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9321469	9321469	+	Silent	SNP	A	A	G			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr12:9321469A>G	ENST00000261336.2	-	17	2131	c.2103T>C	c.(2101-2103)taT>taC	p.Y701Y	PZP_ENST00000381997.2_Silent_p.Y570Y|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	701	Bait region.				female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y701Y(1)|p.Y570Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTTACCTCCATAGTATCCTT	0.388																																					Melanoma(125;1402 1695 4685 34487 38571)											2	Substitution - coding silent(2)	kidney(2)											117	115	116					12																	9321469		2203	4300	6503	SO:0001819	synonymous_variant	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2103T>C	12.37:g.9321469A>G			A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.388	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		G	9321469	A	G	9321469	2	3	385	1	0	0	0	0	0	0	0	1	12875	224	8	3		3	PZP	12	9321469	Silent	SNP	A	TCGA-BP-4971-01A-01D-1462-08		9321469	124530426	29	21390											
KRT72	140807	hgsc.bcm.edu;ucsc.edu	37	12	52981581	52981581	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr12:52981581delG	ENST00000537672.2	-	7	1154	c.1144delC	c.(1144-1146)ctgfs	p.L382fs	KRT72_ENST00000293745.2_Frame_Shift_Del_p.L382fs|KRT72_ENST00000354310.4_Frame_Shift_Del_p.L340fs|KRT72_ENST00000398066.3_Frame_Shift_Del_p.L194fs	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	382	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCATCTTTCAGGGCGCAGTCC	0.637																																																0													57	55	56					12																	52981581		2203	4300	6503	SO:0001589	frameshift_variant	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1144delC	12.37:g.52981581delG	ENSP00000441160:p.Leu382fs		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Frame_Shift_Del	DEL	ENST00000537672.2	37	CCDS8833.1																																																																																				0.637	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		-	52981581	G	-	52981581	7	5	385	1	0	1	0	1	0	0	0	0	8487	991	35	0	403	0	KRT72	12	52981581	Frame_Shift_Del	DEL	G	TCGA-BP-4971-01A-01D-1462-08	43660112	52981581	80870314	30	21391											
NT5DC3	51559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104186991	104186991	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr12:104186991C>A	ENST00000392876.3	-	9	1010	c.970G>T	c.(970-972)Gtg>Ttg	p.V324L		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	324						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V324L(1)|p.V249L(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ACAATGACCACATCGAACAGG	0.423																																																2	Substitution - Missense(2)	kidney(2)											195	204	201					12																	104186991		2203	4300	6503	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.970G>T	12.37:g.104186991C>A	ENSP00000376615:p.Val324Leu		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475590	0.96291	.	.	ENSG00000111696	ENST00000392876	T	0.25749	1.78	5.99	5.99	0.97316	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.58302	1.8	0.80722	D	1	P	0.50443	0.935	P	0.53760	0.734	T	0.02893	-1.1097	10	0.39692	T	0.17	-45.3761	20.4777	0.99188	0.0:1.0:0.0:0.0	.	324	Q86UY8	NT5D3_HUMAN	L	324	ENSP00000376615:V324L	ENSP00000376615:V324L	V	-	1	0	NT5DC3	102711121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GTG		0.423	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		A	104186991	C	A	104186991	3	1	385	1	0	0	0	0	1	0	0	0	10694	478	17	4	700	4	NT5DC3	12	104186991	Missense_Mutation	SNP	C	TCGA-BP-4971-01A-01D-1462-08	51205410	104186991	29664904	31	21392											
TRAFD1	10906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112580008	112580008	+	Silent	SNP	A	A	G			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr12:112580008A>G	ENST00000257604.5	+	6	1376	c.759A>G	c.(757-759)caA>caG	p.Q253Q	TRAFD1_ENST00000412615.2_Silent_p.Q253Q	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	253					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)	p.Q253Q(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ATGAAGGCCAAGCCTCCAGTG	0.557																																																1	Substitution - coding silent(1)	kidney(1)											107	105	106					12																	112580008		2203	4300	6503	SO:0001819	synonymous_variant	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.759A>G	12.37:g.112580008A>G			A8K5L6|B4DI89	Silent	SNP	ENST00000257604.5	37	CCDS9160.1																																																																																				0.557	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		G	112580008	A	G	112580008	2	3	385	1	0	0	0	0	0	0	0	1	16452	69	3	3		3	TRAFD1	12	112580008	Silent	SNP	A	TCGA-BP-4971-01A-01D-1462-08	8393017	112580008	21271887	32	21393											
OR4K15	81127	broad.mit.edu;ucsc.edu	37	14	20444219	20444219	+	Missense_Mutation	SNP	C	C	T	rs199987412		TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr14:20444219C>T	ENST00000305051.5	+	1	617	c.542C>T	c.(541-543)aCc>aTc	p.T181I		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T181I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCATACTACCAGCCAGTTG	0.448																																																1	Substitution - Missense(1)	kidney(1)						C	ILE/THR	1,4405		0,1,2202	145	146	146		542	1	0.3	14		146	0,8598		0,0,4299	no	missense	OR4K15	NM_001005486.1	89	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	181/349	20444219	1,13003	2203	4299	6502	SO:0001583	missense	81127				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.542C>T	14.37:g.20444219C>T	ENSP00000304077:p.Thr181Ile		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	0.250	-1.007336	0.02112	2.27E-4	0.0	ENSG00000169488	ENST00000305051	T	0.00042	8.84	3.98	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.133396	0.34777	N	0.003696	T	0.00039	0.0001	N	0.01431	-0.87	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.12192	-1.0557	10	0.07325	T	0.83	.	7.8576	0.29491	0.0:0.698:0.0:0.302	.	181	Q8NH41	OR4KF_HUMAN	I	181	ENSP00000304077:T181I	ENSP00000304077:T181I	T	+	2	0	OR4K15	19514059	0.000000	0.05858	0.270000	0.24601	0.343000	0.28985	-0.186000	0.09670	0.345000	0.23873	0.585000	0.79938	ACC		0.448	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			T	20444219	C	T	20444219	3	4	385	1	0	0	0	0	1	0	0	0	11072	507	18	2	544	2	OR4K15	14	20444219	Missense_Mutation	SNP	C	TCGA-BP-4971-01A-01D-1462-08		20444219	86905321	33	21394											
SPG21	51324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65255989	65255989	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr15:65255989C>A	ENST00000204566.2	-	9	1194	c.899G>T	c.(898-900)aGc>aTc	p.S300I	SPG21_ENST00000559199.1_Missense_Mutation_p.S146I|SPG21_ENST00000433215.2_Missense_Mutation_p.S300I|SPG21_ENST00000416889.2_Missense_Mutation_p.S273I	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	300					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)	p.S300I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GATGCCAAGGCTGCCTTTCTG	0.517																																																1	Substitution - Missense(1)	kidney(1)											158	134	142					15																	65255989		2202	4299	6501	SO:0001583	missense	51324			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"maspardin"	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.899G>T	15.37:g.65255989C>A	ENSP00000204566:p.Ser300Ile		B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302551	0.23736	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	.	.	.	5.8	-4.33	0.03677	.	0.951746	0.08970	N	0.867357	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B;B	0.21381	0.037;0.055	B;B	0.16722	0.016;0.015	T	0.12785	-1.0534	9	0.41790	T	0.15	-12.9004	16.4186	0.83751	0.0:0.6987:0.0:0.3013	.	273;300	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	I	300;273;300	.	ENSP00000204566:S300I	S	-	2	0	SPG21	63043042	0.391000	0.25221	0.517000	0.27799	0.534000	0.34807	-0.081000	0.11321	-0.697000	0.05092	-0.302000	0.09304	AGC		0.517	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		A	65255989	C	A	65255989	3	1	385	1	0	0	0	0	1	0	0	0	15048	797	28	4	31	4	SPG21	15	65255989	Missense_Mutation	SNP	C	TCGA-BP-4971-01A-01D-1462-08		65255989	37275403	34	21395											
KIAA1609	57707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84516270	84516270	+	Silent	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr16:84516270C>T	ENST00000343629.6	-	6	1187	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	TLDC1_ENST00000535580.1_Silent_p.V308V	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	335	TLD.					lysosomal membrane (GO:0005765)		p.V335V(1)									TGTGTGTGTACACAGCCATGC	0.562																																																1	Substitution - coding silent(1)	kidney(1)											171	129	143					16																	84516270		2200	4300	6500	SO:0001819	synonymous_variant	57707			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1005G>A	16.37:g.84516270C>T			Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	CCDS32498.1																																																																																				0.562	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		T	84516270	C	T	84516270	2	4	385	1	0	0	0	0	0	0	0	1	8249	465	17	2		2	KIAA1609	16	84516270	Silent	SNP	C	TCGA-BP-4971-01A-01D-1462-08		84516270	5838483	35	21396											
C17orf75	64149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30666861	30666861	+	Silent	SNP	C	C	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr17:30666861C>A	ENST00000577809.1	-	3	367	c.318G>T	c.(316-318)ggG>ggT	p.G106G	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Silent_p.G106G	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	106								p.G106G(1)		ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CATTACCCAGCCCTTCAAAGA	0.443																																																1	Substitution - coding silent(1)	kidney(1)											146	143	144					17																	30666861		1935	4148	6083	SO:0001819	synonymous_variant	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.318G>T	17.37:g.30666861C>A			Q7Z2H4	Silent	SNP	ENST00000577809.1	37	CCDS58537.1																																																																																				0.443	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		A	30666861	C	A	30666861	2	1	385	1	0	0	0	0	0	0	0	1	1882	726	26	4		4	C17orf75	17	30666861	Silent	SNP	C	TCGA-BP-4971-01A-01D-1462-08		30666861	50528349	36	21397											
ZNF407	55628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72346684	72346684	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr18:72346684G>A	ENST00000299687.5	+	1	3709	c.3709G>A	c.(3709-3711)Gca>Aca	p.A1237T	ZNF407_ENST00000582337.1_Missense_Mutation_p.A1237T|ZNF407_ENST00000577538.1_Missense_Mutation_p.A1237T|ZNF407_ENST00000309902.6_Missense_Mutation_p.A1237T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A1237T(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGAGGAAACGCAGGAGACGG	0.537																																																2	Substitution - Missense(2)	kidney(2)											53	61	58					18																	72346684		2050	4185	6235	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3709G>A	18.37:g.72346684G>A	ENSP00000299687:p.Ala1237Thr		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	9.799	1.179908	0.21787	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10099	2.91;3.33	4.85	-9.71	0.00518	.	3.777460	0.00508	N	0.000176	T	0.05273	0.0140	N	0.24115	0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.29397	-1.0013	10	0.10111	T	0.7	.	4.9423	0.13973	0.6441:0.0781:0.1109:0.1669	.	1237;1237;1237	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	T	1237	ENSP00000299687:A1237T;ENSP00000310359:A1237T	ENSP00000299687:A1237T	A	+	1	0	ZNF407	70475672	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.289000	0.00525	-2.810000	0.00348	-0.812000	0.03155	GCA		0.537	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		A	72346684	G	A	72346684	3	1	385	1	0	0	0	0	1	0	0	0	17892	1087	38	1	3711	1	ZNF407	18	72346684	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08		72346684	5730564	37	21398											
SALL3	27164	broad.mit.edu	37	18	76753526	76753526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr18:76753526G>A	ENST00000537592.2	+	2	1535	c.1535G>A	c.(1534-1536)tGg>tAg	p.W512*	SALL3_ENST00000575389.2_Nonsense_Mutation_p.W512*|SALL3_ENST00000536229.3_Nonsense_Mutation_p.W379*	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	512					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W512*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTGACCACCTGGCTGGACAGC	0.697																																																1	Substitution - Nonsense(1)	kidney(1)											26	23	24					18																	76753526		2201	4300	6501	SO:0001587	stop_gained	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1535G>A	18.37:g.76753526G>A	ENSP00000441823:p.Trp512*		Q9UGH1	Nonsense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	45	11.728115	0.99596	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	.	.	.	5.28	5.28	0.74379	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-22.1862	18.9384	0.92595	0.0:0.0:1.0:0.0	.	.	.	.	X	512;512;244	.	ENSP00000299466:W512X	W	+	2	0	SALL3	74854514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.782000	0.99034	2.454000	0.82982	0.563000	0.77884	TGG		0.697	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		A	76753526	G	A	76753526	4	1	385	1	0	0	0	0	0	1	0	0	13818	1357	47	2	1541	2	SALL3	18	76753526	Nonsense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08	4406842	76753526	1323722	38	21399											
WDR18	57418	broad.mit.edu;ucsc.edu	37	19	990274	990274	+	Silent	SNP	T	T	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr19:990274T>A	ENST00000251289.5	+	4	530	c.507T>A	c.(505-507)tcT>tcA	p.S169S	WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Silent_p.S169S	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	169					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S169S(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCTGGTCTCACCACGCGC	0.721																																																1	Substitution - coding silent(1)	kidney(1)											21	22	22					19																	990274		2192	4294	6486	SO:0001819	synonymous_variant	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.507T>A	19.37:g.990274T>A			O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																				0.721	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			A	990274	T	A	990274	2	1	385	1	0	0	0	0	0	0	0	1	17283	1538	54	5		5	WDR18	19	990274	Silent	SNP	T	TCGA-BP-4971-01A-01D-1462-08		990274	58138709	39	21400											
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu	37	19	31768041	31768041	+	Silent	SNP	C	C	T	rs562309986	byFrequency	TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr19:31768041C>T	ENST00000240587.4	-	2	2985	c.2658G>A	c.(2656-2658)acG>acA	p.T886T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	886					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T703T(3)|p.T886T(3)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTGGGCGGGCGTCGACTCCT	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		14687	0.0		0.0	False		,,,				2504	0.002															6	Substitution - coding silent(6)	endometrium(4)|kidney(2)											38	36	37					19																	31768041		2203	4300	6503	SO:0001819	synonymous_variant	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2658G>A	19.37:g.31768041C>T			Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.612	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		T	31768041	C	T	31768041	2	4	385	1	0	0	0	0	0	0	0	1	16630	755	27	1		1	TSHZ3	19	31768041	Silent	SNP	C	TCGA-BP-4971-01A-01D-1462-08	30777767	31768041	27360942	40	21401											
PRKD2	25865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47181735	47181735	+	Silent	SNP	G	G	A			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr19:47181735G>A	ENST00000291281.4	-	16	2481	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000601806.1_Silent_p.N595N|PRKD2_ENST00000593492.1_5'Flank|PRKD2_ENST00000595515.1_Silent_p.N752N|PRKD2_ENST00000600194.1_Silent_p.N595N|PRKD2_ENST00000433867.1_Silent_p.N752N			Q9BZL6	KPCD2_HUMAN	protein kinase D2	752	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.N752N(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCTCATCCTCGTTGAAAGGGA	0.617																																																1	Substitution - coding silent(1)	kidney(1)											167	126	140					19																	47181735		2203	4300	6503	SO:0001819	synonymous_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2256C>T	19.37:g.47181735G>A			Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	CCDS12689.1																																																																																				0.617	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		A	47181735	G	A	47181735	2	1	385	1	0	0	0	0	0	0	0	1	12524	1136	40	1		1	PRKD2	19	47181735	Silent	SNP	G	TCGA-BP-4971-01A-01D-1462-08	15413694	47181735	11947248	41	21402											
ZNF274	10782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58723904	58723904	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr19:58723904C>T	ENST00000326804.4	+	9	1813	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	ZNF274_ENST00000345813.3_Missense_Mutation_p.R420C|ZNF274_ENST00000424679.2_Missense_Mutation_p.R347C|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R420C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATTGCGCAAACGTGACTCACA	0.423																																																1	Substitution - Missense(1)	kidney(1)											101	100	101					19																	58723904		2006	4183	6189	SO:0001583	missense	10782			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1354C>T	19.37:g.58723904C>T	ENSP00000321209:p.Arg452Cys		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	37		.	.	.	.	.	.	.	.	.	.	C	8.161	0.789509	0.16258	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.07021	3.31;3.25;3.23	4.55	2.33	0.28932	.	1.051590	0.07544	N	0.914441	T	0.12732	0.0309	.	.	.	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.63113	0.911;0.911;0.818	T	0.15464	-1.0436	9	0.06625	T	0.88	-1.6236	8.1403	0.31080	0.1556:0.7532:0.0:0.0912	.	348;421;453	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	C	452;420;347	ENSP00000321209:R452C;ENSP00000321187:R420C;ENSP00000409872:R347C	ENSP00000321209:R452C	R	+	1	0	ZNF274	63415716	0.000000	0.05858	0.020000	0.16555	0.036000	0.12997	-0.009000	0.12765	0.248000	0.21435	-1.134000	0.01955	CGT		0.423	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		T	58723904	C	T	58723904	3	4	385	1	0	0	0	0	1	0	0	0	17814	536	19	1	1382	1	ZNF274	19	58723904	Missense_Mutation	SNP	C	TCGA-BP-4971-01A-01D-1462-08	11542169	58723904	405079	42	21403											
TRMT6	51605	broad.mit.edu;ucsc.edu	37	20	5924213	5924213	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr20:5924213C>T	ENST00000203001.2	-	6	789	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TRMT6_ENST00000453074.2_Missense_Mutation_p.R50Q|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	220					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.R220Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ACCTCCCATTCGTTCCATCAT	0.428																																																1	Substitution - Missense(1)	kidney(1)											173	160	164					20																	5924213		2203	4300	6503	SO:0001583	missense	51605			AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.659G>A	20.37:g.5924213C>T	ENSP00000203001:p.Arg220Gln		B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286119	0.95517	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.55760	0.5;0.81	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73392	-0.3997	10	0.45353	T	0.12	-6.6825	20.3465	0.98790	0.0:1.0:0.0:0.0	.	50;220	B4DUV6;Q9UJA5	.;TRM6_HUMAN	Q	220;50	ENSP00000203001:R220Q;ENSP00000392070:R50Q	ENSP00000203001:R220Q	R	-	2	0	TRMT6	5872213	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.798000	0.96311	0.655000	0.94253	CGA		0.428	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			T	5924213	C	T	5924213	3	4	385	1	0	0	0	0	1	0	0	0	16573	884	31	1	858	1	TRMT6	20	5924213	Missense_Mutation	SNP	C	TCGA-BP-4971-01A-01D-1462-08		5924213	57101307	43	21404											
ZNF337	26152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	25656758	25656758	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr20:25656758C>T	ENST00000376436.1	-	4	1705	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	ZNF337_ENST00000252979.5_Missense_Mutation_p.G389E|ZNF337_ENST00000538750.1_Missense_Mutation_p.G357E|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G389E(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGAGACTTCCTTTCACGCT	0.488																																																1	Substitution - Missense(1)	kidney(1)											117	103	108					20																	25656758		2203	4300	6503	SO:0001583	missense	26152				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1166G>A	20.37:g.25656758C>T	ENSP00000365619:p.Gly389Glu		B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.301564	0.40694	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.09911	2.93;2.93;2.93	1.13	-2.27	0.06846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	L	0.35593	1.075	0.09310	N	1	B;B	0.17852	0.024;0.024	B;B	0.06405	0.002;0.002	T	0.29488	-1.0010	9	0.59425	D	0.04	.	5.5803	0.17247	0.181:0.5597:0.2593:0.0	.	357;389	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	E	389;389;389;357	ENSP00000365619:G389E;ENSP00000252979:G389E;ENSP00000442181:G357E	ENSP00000252979:G389E	G	-	2	0	ZNF337	25604758	0.000000	0.05858	0.000000	0.03702	0.981000	0.71138	-0.773000	0.04689	-1.340000	0.02227	0.306000	0.20318	GGA		0.488	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			T	25656758	C	T	25656758	3	4	385	1	0	0	0	0	1	0	0	0	17858	855	30	2	1093	2	ZNF337	20	25656758	Missense_Mutation	SNP	C	TCGA-BP-4971-01A-01D-1462-08	19732545	25656758	37368762	44	21405											
C20orf4	25980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34843594	34843594	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr20:34843594G>T	ENST00000373932.3	+	4	1428	c.1082G>T	c.(1081-1083)tGg>tTg	p.W361L	AAR2_ENST00000397286.3_Intron|AAR2_ENST00000320849.4_Missense_Mutation_p.W361L	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	361								p.W361L(1)									AAGTTCCGGTGGGACTTTGCT	0.582																																																1	Substitution - Missense(1)	kidney(1)											91	96	94					20																	34843594		2203	4300	6503	SO:0001583	missense	0				CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 4"	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.1082G>T	20.37:g.34843594G>T	ENSP00000363043:p.Trp361Leu		E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257586	0.95368	.	.	ENSG00000131043	ENST00000320849;ENST00000373932	T;T	0.48836	0.8;0.8	6.17	6.17	0.99709	.	.	.	.	.	T	0.72542	0.3473	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71111	-0.4687	9	0.49607	T	0.09	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	361	Q9Y312	CT004_HUMAN	L	361	ENSP00000313674:W361L;ENSP00000363043:W361L	ENSP00000313674:W361L	W	+	2	0	C20orf4	34307008	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.448000	0.97600	2.941000	0.99782	0.655000	0.94253	TGG		0.582	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		T	34843594	G	T	34843594	3	4	385	1	0	0	0	0	1	0	0	0	2113	1357	47	4	1092	4	C20orf4	20	34843594	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08	9186836	34843594	28181926	45	21406											
SHANK3	85358	broad.mit.edu	37	22	51160606	51160606	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chr22:51160606G>T	ENST00000414786.2	+	21	4530	c.4303G>T	c.(4303-4305)Gcc>Tcc	p.A1435S	SHANK3_ENST00000262795.3_Missense_Mutation_p.A1465S|SHANK3_ENST00000445220.2_Missense_Mutation_p.A1451S			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1449					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.A1465S(1)|p.A558S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCAGCACCACGCCGCCTCTGC	0.711																																																2	Substitution - Missense(2)	kidney(2)											10	13	12					22																	51160606		2028	4182	6210	SO:0001583	missense	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4303G>T	22.37:g.51160606G>T	ENSP00000464552:p.Ala1435Ser		D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37		.	.	.	.	.	.	.	.	.	.	G	15.78	2.935632	0.52972	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.17213	2.29;2.29	5.43	3.32	0.38043	.	0.179444	0.47455	D	0.000222	T	0.15392	0.0371	L	0.51422	1.61	0.22531	N	0.999016	B;P;B	0.48350	0.061;0.909;0.072	B;B;B	0.40901	0.069;0.343;0.055	T	0.09618	-1.0666	10	0.41790	T	0.15	.	9.0298	0.36252	0.0822:0.1495:0.7683:0.0	.	1449;1450;1465	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	S	1465;1451	ENSP00000442518:A1465S;ENSP00000446078:A1451S	ENSP00000442518:A1465S	A	+	1	0	SHANK3	49507472	1.000000	0.71417	0.504000	0.27639	0.935000	0.57460	6.698000	0.74608	0.658000	0.30925	0.563000	0.77884	GCC		0.711	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		T	51160606	G	T	51160606	3	4	385	1	0	0	0	0	1	0	0	0	14272	1087	38	4	4479	4	SHANK3	22	51160606	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08		51160606	143960	46	21407											
ASMT	438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1748789	1748789	+	Silent	SNP	C	C	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chrX:1748789C>T	ENST00000381229.4	+	5	555	c.519C>T	c.(517-519)acC>acT	p.T173T	ASMT_ENST00000381233.3_Silent_p.T173T|ASMT_ENST00000381241.3_Silent_p.T173T|ASMT_ENST00000509780.1_Intron			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	173					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)	p.T173T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GCGTGCTGACCGCCTTTGACC	0.557																																																1	Substitution - coding silent(1)	kidney(1)											431	342	372					X																	1748789		2203	4296	6499	SO:0001819	synonymous_variant	438			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.519C>T	X.37:g.1748789C>T			B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	ENST00000381229.4	37																																																																																					0.557	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		T	1748789	C	T	1748789	2	4	385	1	0	0	0	0	0	0	0	1	1045	639	23	1		1	ASMT	23	1748789	Silent	SNP	C	TCGA-BP-4971-01A-01D-1462-08		1748789	153521771	47	21408											
MXRA5	25878	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	3228209	3228209	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chrX:3228209G>T	ENST00000217939.6	-	7	8189	c.8035C>A	c.(8035-8037)Ctg>Atg	p.L2679M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2679	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)		p.L2679M(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGCCCTCCAGATGCATGCCA	0.612																																																2	Substitution - Missense(2)	kidney(2)											47	46	47					X																	3228209		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8035C>A	X.37:g.3228209G>T	ENSP00000217939:p.Leu2679Met		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	8.959	0.970075	0.18659	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.17691	2.26	4.34	-3.73	0.04398	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31210	U	0.008045	T	0.35998	0.0951	M	0.88842	2.985	0.09310	N	1	D	0.60575	0.988	D	0.68192	0.956	T	0.10941	-1.0608	10	0.51188	T	0.08	.	6.4151	0.21712	0.4334:0.0:0.3771:0.1895	.	2679	Q9NR99	MXRA5_HUMAN	M	2679	ENSP00000217939:L2679M	ENSP00000217939:L2679M	L	-	1	2	MXRA5	3238209	0.164000	0.22935	0.000000	0.03702	0.002000	0.02628	0.419000	0.21247	-0.914000	0.03827	0.509000	0.49947	CTG		0.612	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		T	3228209	G	T	3228209	3	4	385	1	0	0	0	0	1	0	0	0	10005	933	33	4	455	4	MXRA5	23	3228209	Missense_Mutation	SNP	G	TCGA-BP-4971-01A-01D-1462-08	1479420	3228209	152042351	48	21409											
PTCHD1	139411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	23410647	23410647	+	Splice_Site	SNP	G	G	C			TCGA-BP-4971-01A-01D-1462-08	TCGA-BP-4971-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c07945e8-8133-4237-9d1f-18c023bc9d2c	9fa5413f-5599-45cd-9b1b-e425eab73870	g.chrX:23410647G>C	ENST00000379361.4	+	3	1872		c.e3-1			NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1						cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.?(2)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGCCCTCTTAGGTCATGGATT	0.403																																																2	Unknown(2)	kidney(2)											59	54	56					X																	23410647		2203	4300	6503	SO:0001630	splice_region_variant	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1013-1G>C	X.37:g.23410647G>C			B4DQH0|Q0IJ60|Q6P6B8	Splice_Site	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168919	0.38315	.	.	ENSG00000165186	ENST00000379361;ENST00000456522	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8012	0.85615	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTCHD1	23320568	1.000000	0.71417	0.999000	0.59377	0.860000	0.49131	9.208000	0.95075	2.230000	0.72887	0.544000	0.68410	.		0.403	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	Intron	C	23410647	G	C	23410647	5	2	385	1	0	0	0	0	0	0	1	0	12737	1014	35	4	1022	4	PTCHD1	23	23410647	Splice_Site	SNP	G	TCGA-BP-4971-01A-01D-1462-08	20182438	23410647	131859913	49	21410											
NPHP4	261734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	5934998	5934998	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:5934998C>G	ENST00000378156.4	-	21	3245	c.2980G>C	c.(2980-2982)Gtg>Ctg	p.V994L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	994					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.V994L(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTAAGCACAAACTCAAAG	0.632																																																1	Substitution - Missense(1)	kidney(1)											91	110	104					1																	5934998		2146	4243	6389	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2980G>C	1.37:g.5934998C>G	ENSP00000367398:p.Val994Leu		Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	11.15	1.553207	0.27739	.	.	ENSG00000131697	ENST00000378156	D	0.86769	-2.17	4.95	4.04	0.47022	.	0.242197	0.33854	N	0.004498	T	0.80623	0.4658	L	0.34521	1.04	0.26577	N	0.973453	B	0.29988	0.264	B	0.31101	0.124	T	0.70615	-0.4823	10	0.36615	T	0.2	.	12.5574	0.56261	0.0:0.9192:0.0:0.0808	.	994	O75161	NPHP4_HUMAN	L	994	ENSP00000367398:V994L	ENSP00000367398:V994L	V	-	1	0	NPHP4	5857585	0.808000	0.29022	0.039000	0.18376	0.038000	0.13279	2.436000	0.44819	1.092000	0.41356	-0.309000	0.09137	GTG		0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			G	5934998	C	G	5934998	3	3	386	1	0	0	0	0	1	0	0	0	10583	478	17	4	1340	4	NPHP4	1	5934998	Missense_Mutation	SNP	C	TCGA-BP-4972-01A-01D-1462-08		5934998	243315623	1	21411											
SLC2A5	6518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	9118229	9118229	+	Silent	SNP	A	A	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:9118229A>T	ENST00000377424.4	-	2	293	c.114T>A	c.(112-114)gcT>gcA	p.A38A	SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Silent_p.A38A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	38					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.A38A(2)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGTTGACAGCAGCCACGT	0.592																																																2	Substitution - coding silent(2)	kidney(2)											92	72	79					1																	9118229		2203	4300	6503	SO:0001819	synonymous_variant	6518			BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.114T>A	1.37:g.9118229A>T			Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	CCDS99.1																																																																																				0.592	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		T	9118229	A	T	9118229	2	4	386	1	0	0	0	0	0	0	0	1	14554	175	7	5		5	SLC2A5	1	9118229	Silent	SNP	A	TCGA-BP-4972-01A-01D-1462-08	3183231	9118229	240132392	2	21412											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu	37	1	11190694	11190694	+	Silent	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:11190694G>A	ENST00000361445.4	-	39	5581	c.5505C>T	c.(5503-5505)gcC>gcT	p.A1835A	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Silent_p.A40A	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1835	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A1835A(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	tggcagtggcggccgtggtgg	0.627																																																1	Substitution - coding silent(1)	kidney(1)											83	62	69					1																	11190694		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5505C>T	1.37:g.11190694G>A			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	CCDS127.1																																																																																				0.627	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		A	11190694	G	A	11190694	2	1	386	1	0	0	0	0	0	0	0	1	9956	1103	39	1		1	MTOR	1	11190694	Silent	SNP	G	TCGA-BP-4972-01A-01D-1462-08	2072465	11190694	238059927	3	21413											
PTCHD2	57540	hgsc.bcm.edu	37	1	11589932	11589933	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:11589932_11589933insA	ENST00000294484.6	+	15	3156_3157	c.3018_3019insA	c.(3019-3021)accfs	p.T1007fs	PTCHD2_ENST00000389575.3_Frame_Shift_Ins_p.T1007fs	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1007					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CACTAGTGGATACCGGGGCCAT	0.644																																																0																																										SO:0001589	frameshift_variant	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3019dupA	1.37:g.11589933_11589933dupA	ENSP00000294484:p.Thr1007fs		Q5VTU9|Q9UJD6	Frame_Shift_Ins	INS	ENST00000294484.6	37	CCDS41247.1																																																																																				0.644	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		A	11589933	-	A	11589932	7	5	386	1	0	1	1	0	0	0	0	0	12738	1403	49	0	3072	0	PTCHD2	1	11589932	Frame_Shift_Ins	INS	-	TCGA-BP-4972-01A-01D-1462-08	399238	11589932	237660689	4	21414											
EFNA1	1942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155104091	155104091	+	Silent	SNP	A	A	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:155104091A>G	ENST00000368407.3	+	2	887	c.369A>G	c.(367-369)ggA>ggG	p.G123G	EFNA1_ENST00000368406.2_Silent_p.G123G|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	123	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)	p.G123G(1)		breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCAAAGAAGGACACAGCTACT	0.522																																																1	Substitution - coding silent(1)	kidney(1)											54	48	50					1																	155104091		2203	4300	6503	SO:0001819	synonymous_variant	1942				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"Ephrins"	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.369A>G	1.37:g.155104091A>G			D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Silent	SNP	ENST00000368407.3	37	CCDS1091.1																																																																																				0.522	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	NM_004428		G	155104091	A	G	155104091	2	3	386	1	0	0	0	0	0	0	0	1	4952	262	10	3		3	EFNA1	1	155104091	Silent	SNP	A	TCGA-BP-4972-01A-01D-1462-08	143514159	155104091	94146530	5	21415											
B3GALT2	8707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	193150003	193150003	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:193150003T>G	ENST00000367434.4	-	2	1445	c.690A>C	c.(688-690)aaA>aaC	p.K230N	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	230					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.K230N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CCATTAGTGTTTTAATGGTCA	0.338																																																1	Substitution - Missense(1)	kidney(1)											120	118	118					1																	193150003		2203	4299	6502	SO:0001583	missense	8707			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"Beta 3-glycosyltransferases"	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.690A>C	1.37:g.193150003T>G	ENSP00000356404:p.Lys230Asn		B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.825202	0.50739	.	.	ENSG00000162630	ENST00000367434	T	0.73152	-0.72	5.68	3.35	0.38373	.	0.000000	0.85682	D	0.000000	D	0.88757	0.6523	H	0.98559	4.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89648	0.3867	10	0.87932	D	0	.	9.3398	0.38074	0.0:0.1923:0.0:0.8077	.	230	O43825	B3GT2_HUMAN	N	230	ENSP00000356404:K230N	ENSP00000356404:K230N	K	-	3	2	B3GALT2	191416626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.033000	0.30191	0.978000	0.38470	0.528000	0.53228	AAA		0.338	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		G	193150003	T	G	193150003	3	3	386	1	0	0	0	0	1	0	0	0	1248	1838	64	5	582	5	B3GALT2	1	193150003	Missense_Mutation	SNP	T	TCGA-BP-4972-01A-01D-1462-08	38045912	193150003	56100618	6	21416											
NFASC	23114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204971841	204971841	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr1:204971841T>C	ENST00000401399.1	+	26	3453	c.3254T>C	c.(3253-3255)aTc>aCc	p.I1085T	NFASC_ENST00000338515.6_Intron|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000339876.6_Missense_Mutation_p.I1085T|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.I1177T|NFASC_ENST00000338586.6_Missense_Mutation_p.I1069T|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.I1192T|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.I1113T|NFASC_ENST00000404907.1_Intron			O94856	NFASC_HUMAN	neurofascin	1192	Thr-rich.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.I1085T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACGAGGGCATCAGCAGTACC	0.552																																																1	Substitution - Missense(1)	kidney(1)											84	77	79					1																	204971841		1568	3582	5150	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3254T>C	1.37:g.204971841T>C	ENSP00000385637:p.Ile1085Thr		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.833386	0.50951	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000338586;ENST00000401399	T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;1.58;0.45	5.63	5.63	0.86233	.	0.538057	0.16630	N	0.206114	T	0.34395	0.0896	N	0.12887	0.27	0.80722	D	1	B;B	0.22414	0.0;0.069	B;B	0.21360	0.004;0.034	T	0.16630	-1.0396	10	0.23302	T	0.38	.	12.309	0.54918	0.0:0.0:0.1409:0.8591	.	1069;1085	F8W8X7;O94856-9	.;.	T	1192;1177;1113;1085;1069;1085	ENSP00000356140:I1192T;ENSP00000356139:I1177T;ENSP00000356138:I1113T;ENSP00000344786:I1085T;ENSP00000343509:I1069T;ENSP00000385637:I1085T	ENSP00000343509:I1069T	I	+	2	0	NFASC	203238464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.513000	0.60476	2.145000	0.66743	0.533000	0.62120	ATC		0.552	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		C	204971841	T	C	204971841	3	2	386	1	0	0	0	0	1	0	0	0	10361	1435	50	3	3765	3	NFASC	1	204971841	Missense_Mutation	SNP	T	TCGA-BP-4972-01A-01D-1462-08	11821838	204971841	44278780	7	21417											
MSH6	2956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48026389	48026389	+	Missense_Mutation	SNP	C	C	A	rs587781657		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr2:48026389C>A	ENST00000234420.5	+	4	1419	c.1267C>A	c.(1267-1269)Ctt>Att	p.L423I	MSH6_ENST00000540021.1_Missense_Mutation_p.L293I|MSH6_ENST00000538136.1_Missense_Mutation_p.L121I|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	423					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)|p.L423I(1)		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)			GAACTTTGATCTTGTCATCTG	0.438			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(1)											130	124	126					2																	48026389		2203	4300	6503	SO:0001583	missense	2956	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.1267C>A	2.37:g.48026389C>A	ENSP00000234420:p.Leu423Ile		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965592	0.18583	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.88975	-2.45;-2.45;-2.45	4.63	3.76	0.43208	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.336412	0.30076	N	0.010467	T	0.77398	0.4124	N	0.14661	0.345	0.80722	D	1	P;B;B	0.35383	0.498;0.257;0.087	B;B;B	0.41666	0.326;0.216;0.363	T	0.68716	-0.5335	10	0.20046	T	0.44	-10.8994	1.9644	0.03393	0.153:0.5004:0.1694:0.1771	.	293;423;423	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	I	423;421;293;121	ENSP00000234420:L423I;ENSP00000446475:L293I;ENSP00000438580:L121I	ENSP00000234420:L423I	L	+	1	0	MSH6	47879893	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	1.453000	0.35167	1.183000	0.42943	-0.140000	0.14226	CTT		0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		A	48026389	C	A	48026389	3	1	386	1	0	0	0	0	1	0	0	0	9876	913	32	4	1281	4	MSH6	2	48026389	Missense_Mutation	SNP	C	TCGA-BP-4972-01A-01D-1462-08		48026389	195172984	8	21418											
KCNJ3	3760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	155555495	155555495	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr2:155555495G>T	ENST00000295101.2	+	1	685	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	KCNJ3_ENST00000544049.1_Missense_Mutation_p.D70Y|AC061961.2_ENST00000443901.1_RNA	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	70					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.D70Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTACCTCTCGGACCTCTTCAC	0.592																																																1	Substitution - Missense(1)	kidney(1)											115	111	112					2																	155555495		2203	4300	6503	SO:0001583	missense	3760			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.208G>T	2.37:g.155555495G>T	ENSP00000295101:p.Asp70Tyr		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524647	0.64747	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.97186	-4.28;-4.28	5.16	4.26	0.50523	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.044697	0.85682	D	0.000000	D	0.99036	0.9670	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99016	1.0816	10	0.87932	D	0	.	14.1885	0.65623	0.0:0.1512:0.8488:0.0	.	70;70	B4DEW7;P48549	.;IRK3_HUMAN	Y	70	ENSP00000295101:D70Y;ENSP00000438410:D70Y	ENSP00000295101:D70Y	D	+	1	0	KCNJ3	155263741	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.933000	0.87642	1.130000	0.42092	0.555000	0.69702	GAC		0.592	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		T	155555495	G	T	155555495	3	4	386	1	0	0	0	0	1	0	0	0	8054	1174	41	4	210	4	KCNJ3	2	155555495	Missense_Mutation	SNP	G	TCGA-BP-4972-01A-01D-1462-08	107529106	155555495	87643878	9	21419											
TTLL4	9654	hgsc.bcm.edu	37	2	219609933	219609934	+	Frame_Shift_Ins	INS	-	-	T	rs574453999		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr2:219609933_219609934insT	ENST00000392102.1	+	6	2103_2104	c.1763_1764insT	c.(1762-1767)tattttfs	p.YF588fs	TTLL4_ENST00000258398.4_Frame_Shift_Ins_p.YF588fs|TTLL4_ENST00000457313.1_Frame_Shift_Ins_p.YF423fs|TTLL4_ENST00000442769.1_Frame_Shift_Ins_p.YF588fs	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	588					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CCTACCATCTATTTTGGCACTC	0.52																																					GBM(172;1818 2053 15407 20943 49753)											0																																										SO:0001589	frameshift_variant	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1767dupT	2.37:g.219609937_219609937dupT	ENSP00000375951:p.Tyr588fs		A8K6V5|Q8WW29	Frame_Shift_Ins	INS	ENST00000392102.1	37	CCDS2422.1																																																																																				0.52	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		T	219609934	-	T	219609933	7	5	386	1	0	1	1	0	0	0	0	0	16734	449	16	0	1777	0	TTLL4	2	219609933	Frame_Shift_Ins	INS	-	TCGA-BP-4972-01A-01D-1462-08	64054438	219609933	23589440	10	21420											
DNAH1	25981	broad.mit.edu;ucsc.edu	37	3	52360871	52360871	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr3:52360871delC	ENST00000420323.2	+	5	963	c.702delC	c.(700-702)ggcfs	p.G234fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	234	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGAACAGGGCCATGACCCAA	0.597																																																0													108	131	123					3																	52360871		2106	4223	6329	SO:0001589	frameshift_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.702delC	3.37:g.52360871delC	ENSP00000401514:p.Gly234fs		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Del	DEL	ENST00000420323.2	37	CCDS46842.1																																																																																				0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		-	52360871	C	-	52360871	7	5	386	1	0	1	0	1	0	0	0	0	4599	726	26	0	716	0	DNAH1	3	52360871	Frame_Shift_Del	DEL	C	TCGA-BP-4972-01A-01D-1462-08		52360871	145661559	11	21421											
ADAMTS9	56999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	64579996	64579996	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr3:64579996C>T	ENST00000498707.1	-	28	4636	c.4294G>A	c.(4294-4296)Gag>Aag	p.E1432K	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E1404K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1432	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1432K(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTACACTGCTCACGATCGGGA	0.493																																																1	Substitution - Missense(1)	kidney(1)											209	192	198					3																	64579996		2203	4300	6503	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4294G>A	3.37:g.64579996C>T	ENSP00000418735:p.Glu1432Lys		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607604	0.66558	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.55760	0.5;0.5	5.36	5.36	0.76844	.	0.116868	0.56097	D	0.000024	T	0.59088	0.2168	L	0.41906	1.305	0.80722	D	1	P;D;B	0.67145	0.866;0.996;0.205	P;P;B	0.60609	0.507;0.877;0.155	T	0.48031	-0.9070	10	0.07482	T	0.82	.	19.2909	0.94098	0.0:1.0:0.0:0.0	.	1404;1432;1432	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	K	1404;1432	ENSP00000295903:E1404K;ENSP00000418735:E1432K	ENSP00000295903:E1404K	E	-	1	0	ADAMTS9	64555036	1.000000	0.71417	0.966000	0.40874	0.276000	0.26787	7.288000	0.78691	2.797000	0.96272	0.563000	0.77884	GAG		0.493	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			T	64579996	C	T	64579996	3	4	386	1	0	0	0	0	1	0	0	0	273	835	29	2	1561	2	ADAMTS9	3	64579996	Missense_Mutation	SNP	C	TCGA-BP-4972-01A-01D-1462-08	12219125	64579996	133442434	12	21422											
PPM1L	151742	hgsc.bcm.edu	37	3	160783277	160783277	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr3:160783277delG	ENST00000498165.1	+	3	762	c.661delG	c.(661-663)gatfs	p.D221fs	PPM1L_ENST00000464260.1_Frame_Shift_Del_p.D42fs|PPM1L_ENST00000295839.9_Frame_Shift_Del_p.D94fs|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	221	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GTGTGACAAAGATGGGAACGC	0.473																																					Pancreas(86;250 1994 13715 43211)											0													120	113	115					3																	160783277		2203	4300	6503	SO:0001589	frameshift_variant	151742			AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	16381	protein-coding gene	gene with protein product	"PP2Cepsilon", "Protein phosphatase 2C epsilon isoform"	611931	"protein phosphatase 1 (formerly 2C)-like"			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.661delG	3.37:g.160783277delG	ENSP00000417659:p.Asp221fs		Q2M3J2|Q96NM7	Frame_Shift_Del	DEL	ENST00000498165.1	37	CCDS33886.1																																																																																				0.473	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		-	160783277	G	-	160783277	7	5	386	1	0	1	0	1	0	0	0	0	12349	942	33	0	671	0	PPM1L	3	160783277	Frame_Shift_Del	DEL	G	TCGA-BP-4972-01A-01D-1462-08	96203281	160783277	37239153	13	21423											
UNC5C	8633	broad.mit.edu;hgsc.bcm.edu	37	4	96127874	96127874	+	Missense_Mutation	SNP	G	G	T	rs139568380	byFrequency	TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr4:96127874G>T	ENST00000453304.1	-	11	2155	c.1807C>A	c.(1807-1809)Cgc>Agc	p.R603S		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	603	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.R603S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACGACTGGGCGGGTGAGCAGA	0.582																																																1	Substitution - Missense(1)	kidney(1)											68	63	65					4																	96127874		2203	4300	6503	SO:0001583	missense	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1807C>A	4.37:g.96127874G>T	ENSP00000406022:p.Arg603Ser		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758780	0.49468	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.41758	0.99;0.99	5.28	5.28	0.74379	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	L	0.51914	1.62	0.80722	D	1	D;D	0.67145	0.988;0.996	P;D	0.65140	0.875;0.932	T	0.57219	-0.7849	10	0.48119	T	0.1	.	19.2637	0.93979	0.0:0.0:1.0:0.0	.	603;603	A8K385;O95185	.;UNC5C_HUMAN	S	603;562;622	ENSP00000406022:R603S;ENSP00000426924:R622S	ENSP00000328673:R562S	R	-	1	0	UNC5C	96346897	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	4.829000	0.62737	2.611000	0.88343	0.563000	0.77884	CGC		0.582	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		T	96127874	G	T	96127874	3	4	386	1	0	0	0	0	1	0	0	0	16998	1116	39	4	1012	4	UNC5C	4	96127874	Missense_Mutation	SNP	G	TCGA-BP-4972-01A-01D-1462-08		96127874	95026402	14	21424											
HPGD	3248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	175443219	175443219	+	Splice_Site	SNP	C	C	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr4:175443219C>A	ENST00000296522.6	-	2	540		c.e2-1		HPGD_ENST00000504433.1_Splice_Site|RP11-440I14.2_ENST00000515178.1_lincRNA|HPGD_ENST00000510901.1_Splice_Site|HPGD_ENST00000541923.1_Splice_Site|HPGD_ENST00000422112.2_Splice_Site|HPGD_ENST00000296521.7_Splice_Site|HPGD_ENST00000542498.1_Splice_Site	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)	p.?(1)		kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		CCAGCGCTACCTATAGACAAG	0.507																																																1	Unknown(1)	kidney(1)											102	104	103					4																	175443219		2203	4300	6503	SO:0001630	splice_region_variant	3248				CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	5154	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 36C, member 1"	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.94-1G>T	4.37:g.175443219C>A			B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Splice_Site	SNP	ENST00000296522.6	37	CCDS3821.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821667	0.71028	.	.	ENSG00000164120	ENST00000296522;ENST00000296521;ENST00000422112;ENST00000542498;ENST00000504433	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6596	0.88188	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HPGD	175679794	1.000000	0.71417	0.995000	0.50966	0.825000	0.46686	6.442000	0.73443	2.459000	0.83118	0.462000	0.41574	.		0.507	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3		Intron	A	175443219	C	A	175443219	5	1	386	1	0	0	0	0	0	0	1	0	7336	695	24	4	731	4	HPGD	4	175443219	Splice_Site	SNP	C	TCGA-BP-4972-01A-01D-1462-08	79315345	175443219	15711057	15	21425											
TERT	7015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	1272327	1272327	+	Silent	SNP	C	C	A	rs545260840		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr5:1272327C>A	ENST00000310581.5	-	7	2412	c.2355G>T	c.(2353-2355)ccG>ccT	p.P785P	TERT_ENST00000508104.2_Intron|TERT_ENST00000334602.6_Silent_p.P785P|TERT_ENST00000296820.5_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	785	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.		P -> L (in AA susceptibility). {ECO:0000269|PubMed:19760749}.		DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.P773P(2)|p.P785P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CATCCCTCAGCGGGCTGGTCT	0.642									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																							3	Substitution - coding silent(3)	kidney(2)|upper_aerodigestive_tract(1)											30	36	34					5																	1272327		2059	4180	6239	SO:0001819	synonymous_variant	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2355G>T	5.37:g.1272327C>A			O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	CCDS3861.2																																																																																				0.642	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			A	1272327	C	A	1272327	2	1	386	1	0	0	0	0	0	0	0	1	15769	755	27	4		4	TERT	5	1272327	Silent	SNP	C	TCGA-BP-4972-01A-01D-1462-08		1272327	179642933	16	21426											
C7	730	broad.mit.edu	37	5	40959677	40959677	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr5:40959677C>T	ENST00000313164.9	+	12	1975	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	539	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.T539M(1)					Ovarian(839;0.0112)				GTTGGAGAAACGACAGAAAGC	0.542																																																1	Substitution - Missense(1)	kidney(1)											70	79	76					5																	40959677		2005	4179	6184	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1616C>T	5.37:g.40959677C>T	ENSP00000322061:p.Thr539Met		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091574	0.36952	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.54675	0.56	5.4	5.4	0.78164	.	1.311320	0.04932	N	0.457025	T	0.67496	0.2899	L	0.52266	1.64	0.09310	N	1	D	0.63880	0.993	P	0.57846	0.828	T	0.58736	-0.7584	10	0.48119	T	0.1	0.0112	14.9329	0.70929	0.152:0.848:0.0:0.0	.	539	P10643	CO7_HUMAN	M	539;379	ENSP00000322061:T539M	ENSP00000322061:T539M	T	+	2	0	C7	40995434	0.000000	0.05858	0.031000	0.17742	0.117000	0.20001	1.112000	0.31172	2.538000	0.85594	0.462000	0.41574	ACG		0.542	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			T	40959677	C	T	40959677	3	4	386	1	0	0	0	0	1	0	0	0	2377	536	19	1	1662	1	C7	5	40959677	Missense_Mutation	SNP	C	TCGA-BP-4972-01A-01D-1462-08	39687350	40959677	139955583	17	21427											
PCDHA6	56142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140209867	140209867	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr5:140209867G>A	ENST00000529310.1	+	1	2305	c.2191G>A	c.(2191-2193)Gcg>Acg	p.A731T	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	731					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A731T(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGAGGGCGCGTGCACGGC	0.692																																																2	Substitution - Missense(2)	kidney(2)											45	45	45					5																	140209867		2203	4298	6501	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2191G>A	5.37:g.140209867G>A	ENSP00000433378:p.Ala731Thr		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	8.101	0.776736	0.16120	.	.	ENSG00000081842	ENST00000529310	T	0.12672	2.66	4.12	4.12	0.48240	.	0.910321	0.08935	U	0.872482	T	0.16811	0.0404	L	0.56124	1.755	0.21290	N	0.99974	B;B	0.24576	0.106;0.006	B;B	0.18561	0.022;0.004	T	0.12016	-1.0564	10	0.29301	T	0.29	.	14.7333	0.69399	0.0:0.0:1.0:0.0	.	731;731	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	T	731	ENSP00000433378:A731T	ENSP00000433378:A731T	A	+	1	0	PCDHA6	140190051	0.096000	0.21769	0.987000	0.45799	0.170000	0.22686	1.819000	0.39022	2.305000	0.77605	0.306000	0.20318	GCG		0.692	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		A	140209867	G	A	140209867	3	1	386	1	0	0	0	0	1	0	0	0	11530	1087	38	1	2193	1	PCDHA6	5	140209867	Missense_Mutation	SNP	G	TCGA-BP-4972-01A-01D-1462-08	99250190	140209867	40705393	18	21428											
C6orf114	54438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	13470345	13470345	+	Intron	SNP	T	T	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr6:13470345T>C	ENST00000379287.3	-	1	918				GFOD1_ENST00000379278.3_5'UTR|AL583828.1_ENST00000558378.1_Silent_p.V56V|GFOD1_ENST00000603223.1_3'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.V56V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			AACCGATAAATACTGCAGTTG	0.438																																																1	Substitution - coding silent(1)	kidney(1)											67	63	64					6																	13470345		2203	4300	6503	SO:0001627	intron_variant	0			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.253+16524A>G	6.37:g.13470345T>C			A8E4L6|Q5T058|Q96JD4|Q9H5K2	Silent	SNP	ENST00000379287.3	37	CCDS4524.1																																																																																				0.438	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		C	13470345	T	C	13470345	1	2	386	0	1	0	0	0	0	0	0	0	2323	1393	49	3		3	C6orf114	6	13470345	Intron	SNP	T	TCGA-BP-4972-01A-01D-1462-08		13470345	157644722	19	21429											
PACSIN1	29993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	34499375	34499375	+	Splice_Site	SNP	A	A	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr6:34499375A>C	ENST00000538621.1	+	9	1282		c.e9-1		PACSIN1_ENST00000374043.2_Splice_Site|PACSIN1_ENST00000244458.2_Splice_Site	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1						actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						TCCGCGTCTCAGTGTTAGCAG	0.612																																																1	Unknown(1)	kidney(1)											74	75	74					6																	34499375		2202	4300	6502	SO:0001630	splice_region_variant	29993			AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"syndapin I"	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1038-1A>C	6.37:g.34499375A>C			Q9P2G8	Splice_Site	SNP	ENST00000538621.1	37	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	A	36	5.818094	0.96982	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4328	0.67261	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PACSIN1	34607353	1.000000	0.71417	0.103000	0.21229	0.921000	0.55340	8.723000	0.91458	2.088000	0.63022	0.459000	0.35465	.		0.612	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1		Intron	C	34499375	A	C	34499375	5	2	386	1	0	0	0	0	0	0	1	0	11376	202	7	5	1066	5	PACSIN1	6	34499375	Splice_Site	SNP	A	TCGA-BP-4972-01A-01D-1462-08	21029030	34499375	136615692	20	21430											
RIMS1	22999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	72974723	72974723	+	Silent	SNP	A	A	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr6:72974723A>G	ENST00000521978.1	+	20	3162	c.3162A>G	c.(3160-3162)ttA>ttG	p.L1054L	RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000264839.7_Silent_p.L1054L|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1054					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.L1054L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGATGCCTTTATTACAGAGCA	0.378																																																1	Substitution - coding silent(1)	kidney(1)											47	44	45					6																	72974723		1840	4088	5928	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3162A>G	6.37:g.72974723A>G			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1																																																																																				0.378	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	72974723	A	G	72974723	2	3	386	1	0	0	0	0	0	0	0	1	13373	446	16	3		3	RIMS1	6	72974723	Silent	SNP	A	TCGA-BP-4972-01A-01D-1462-08	38475348	72974723	98140344	21	21431											
NUP205	23165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	135261060	135261060	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr7:135261060T>C	ENST00000285968.6	+	4	412	c.386T>C	c.(385-387)tTa>tCa	p.L129S	NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	129					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.L129S(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACCAGAGGATTAGTAGCTGTT	0.423																																																1	Substitution - Missense(1)	kidney(1)											152	147	149					7																	135261060		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.386T>C	7.37:g.135261060T>C	ENSP00000285968:p.Leu129Ser		A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.719252	0.89205	.	.	ENSG00000155561	ENST00000285968	T	0.32988	1.43	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.56307	0.1976	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55592	-0.8117	10	0.32370	T	0.25	-7.0314	15.6744	0.77303	0.0:0.0:0.0:1.0	.	129	Q92621	NU205_HUMAN	S	129	ENSP00000285968:L129S	ENSP00000285968:L129S	L	+	2	0	NUP205	134911600	0.999000	0.42202	0.986000	0.45419	0.993000	0.82548	7.993000	0.88291	2.146000	0.66826	0.482000	0.46254	TTA		0.423	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			C	135261060	T	C	135261060	3	2	386	1	0	0	0	0	1	0	0	0	10761	1764	61	3	400	3	NUP205	7	135261060	Missense_Mutation	SNP	T	TCGA-BP-4972-01A-01D-1462-08		135261060	23877603	22	21432											
USP17L2	377630	broad.mit.edu	37	8	11995803	11995803	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr8:11995803C>T	ENST00000333796.3	-	1	783	c.467G>A	c.(466-468)gGc>gAc	p.G156D	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	156	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G156D(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTCCTGCTTGCCTCTATGGAA	0.522																																																1	Substitution - Missense(1)	kidney(1)											14	16	16					8																	11995803		1103	2392	3495	SO:0001583	missense	377630			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.467G>A	8.37:g.11995803C>T	ENSP00000333329:p.Gly156Asp			Missense_Mutation	SNP	ENST00000333796.3	37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	C	3.793	-0.043359	0.07452	.	.	ENSG00000223443	ENST00000333796	T	0.32272	1.46	0.745	-1.49	0.08718	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.967764	0.08474	N	0.940604	T	0.47637	0.1456	M	0.91249	3.19	0.22424	N	0.99911	B	0.28933	0.228	B	0.43274	0.414	T	0.53627	-0.8412	10	0.39692	T	0.17	.	4.6892	0.12772	0.0:0.2676:0.0:0.7324	.	156	Q6R6M4	U17L2_HUMAN	D	156	ENSP00000333329:G156D	ENSP00000333329:G156D	G	-	2	0	USP17L2	12033212	0.832000	0.29368	0.003000	0.11579	0.004000	0.04260	0.772000	0.26647	-1.508000	0.01800	-1.883000	0.00544	GGC		0.522	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		T	11995803	C	T	11995803	3	4	386	1	0	0	0	0	1	0	0	0	17053	739	26	2	1129	2	USP17L2	8	11995803	Missense_Mutation	SNP	C	TCGA-BP-4972-01A-01D-1462-08		11995803	134368219	23	21433											
CIZ1	25792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130938657	130938657	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr9:130938657G>A	ENST00000393608.1	-	11	2118	c.1916C>T	c.(1915-1917)cCc>cTc	p.P639L	CIZ1_ENST00000277465.4_Missense_Mutation_p.P611L|CIZ1_ENST00000325721.8_Missense_Mutation_p.P610L|CIZ1_ENST00000372948.3_Missense_Mutation_p.P583L|CIZ1_ENST00000372954.1_Missense_Mutation_p.P559L|CIZ1_ENST00000541172.1_Missense_Mutation_p.P538L|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Missense_Mutation_p.P639L|CIZ1_ENST00000372938.5_Missense_Mutation_p.P639L|CIZ1_ENST00000357558.5_Missense_Mutation_p.P611L	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	639					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P639L(1)|p.L636_R640delLPVPR(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GACGTCCCGGGGCACGGGCAG	0.632																																																2	Substitution - Missense(1)|Deletion - In frame(1)	breast(1)|kidney(1)											98	100	99					9																	130938657		2203	4300	6503	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1916C>T	9.37:g.130938657G>A	ENSP00000377232:p.Pro639Leu		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993375	0.35131	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.35236	1.32;1.5;1.52;1.65;1.5;1.91;1.65;1.32;1.5;2.08	5.43	3.39	0.38822	.	0.311466	0.23530	N	0.047192	T	0.35480	0.0933	N	0.14661	0.345	0.32083	N	0.592845	D;D;P;D;P;P;P	0.69078	0.997;0.969;0.935;0.994;0.934;0.955;0.893	D;P;P;P;P;P;P	0.63703	0.917;0.663;0.7;0.9;0.449;0.652;0.504	T	0.35051	-0.9804	10	0.27082	T	0.32	-9.674	10.5293	0.44967	0.0829:0.0:0.7391:0.178	.	639;578;583;559;639;610;611	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	L	559;639;639;611;610;578;538;611;583;639;561	ENSP00000362045:P559L;ENSP00000377232:P639L;ENSP00000439244:P639L;ENSP00000350169:P611L;ENSP00000320374:P610L;ENSP00000445057:P538L;ENSP00000277465:P611L;ENSP00000362039:P583L;ENSP00000362029:P639L;ENSP00000398011:P561L	ENSP00000277465:P611L	P	-	2	0	CIZ1	129978478	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	2.025000	0.41059	1.287000	0.44583	-0.379000	0.06801	CCC		0.632	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		A	130938657	G	A	130938657	3	1	386	1	0	0	0	0	1	0	0	0	3443	1232	43	2	808	2	CIZ1	9	130938657	Missense_Mutation	SNP	G	TCGA-BP-4972-01A-01D-1462-08		130938657	10274774	24	21434											
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61830323	61830323	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr10:61830323A>G	ENST00000280772.2	-	37	10507	c.10316T>C	c.(10315-10317)aTg>aCg	p.M3439T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3439					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.M3439T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTAATTTCCATGGCTTGAAT	0.458																																																1	Substitution - Missense(1)	kidney(1)											88	83	85					10																	61830323		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10316T>C	10.37:g.61830323A>G	ENSP00000280772:p.Met3439Thr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.060878	0.00386	.	.	ENSG00000151150	ENST00000280772	T	0.61859	0.07	5.62	4.47	0.54385	.	0.663424	0.13362	N	0.393575	T	0.35248	0.0925	N	0.08118	0	0.49687	D	0.999818	B	0.06786	0.001	B	0.08055	0.003	T	0.07385	-1.0775	10	0.19147	T	0.46	.	10.0559	0.42244	0.7312:0.0:0.0:0.2688	.	3439	Q12955	ANK3_HUMAN	T	3439	ENSP00000280772:M3439T	ENSP00000280772:M3439T	M	-	2	0	ANK3	61500329	0.910000	0.30920	0.126000	0.21872	0.031000	0.12232	2.110000	0.41873	0.941000	0.37499	-0.336000	0.08194	ATG		0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		G	61830323	A	G	61830323	3	3	386	1	0	0	0	0	1	0	0	0	622	217	8	3	3158	3	ANK3	10	61830323	Missense_Mutation	SNP	A	TCGA-BP-4972-01A-01D-1462-08		61830323	73704424	25	21435											
RRP12	23223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99116876	99116876	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr10:99116876T>C	ENST00000370992.4	-	34	3980	c.3869A>G	c.(3868-3870)aAc>aGc	p.N1290S	RRP12_ENST00000536831.1_Missense_Mutation_p.N1008S|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.N1190S|RRP12_ENST00000414986.1_Missense_Mutation_p.N1229S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1290						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.N1290S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTTTCTGCGGTTTTTGTGTCC	0.637																																																1	Substitution - Missense(1)	kidney(1)											98	93	95					10																	99116876		2203	4300	6503	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3869A>G	10.37:g.99116876T>C	ENSP00000360031:p.Asn1290Ser		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384229	0.42308	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.29397	1.57;1.58;1.58;1.58	5.4	2.93	0.34026	.	0.492047	0.21682	N	0.070711	T	0.19525	0.0469	L	0.37630	1.12	0.22266	N	0.999249	B;B;B;B	0.17667	0.01;0.009;0.023;0.002	B;B;B;B	0.17098	0.004;0.014;0.017;0.004	T	0.27297	-1.0078	10	0.08381	T	0.77	-4.7268	8.4929	0.33110	0.44:0.0:0.0:0.56	.	1229;1190;1008;1290	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	S	1290;1190;1229;1008	ENSP00000360031:N1290S;ENSP00000324315:N1190S;ENSP00000414863:N1229S;ENSP00000446184:N1008S	ENSP00000324315:N1190S	N	-	2	0	RRP12	99106866	1.000000	0.71417	0.978000	0.43139	0.830000	0.47004	2.133000	0.42093	0.875000	0.35847	-0.527000	0.04329	AAC		0.637	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		C	99116876	T	C	99116876	3	2	386	1	0	0	0	0	1	0	0	0	13692	1725	60	3	28	3	RRP12	10	99116876	Missense_Mutation	SNP	T	TCGA-BP-4972-01A-01D-1462-08	37286553	99116876	36417871	26	21436											
TCERG1L	256536	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	132965070	132965070	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr10:132965070T>A	ENST00000368642.4	-	5	1020	c.935A>T	c.(934-936)aAa>aTa	p.K312I		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	312								p.K271I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTTGTCTTCTTTGTCTCCATC	0.592																																																1	Substitution - Missense(1)	kidney(1)											89	69	76					10																	132965070		2203	4300	6503	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.935A>T	10.37:g.132965070T>A	ENSP00000357631:p.Lys312Ile		Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	8.379	0.837130	0.16891	.	.	ENSG00000176769	ENST00000368642	T	0.25250	1.81	2.4	-0.0119	0.13991	.	1.111840	0.06948	N	0.814067	T	0.17152	0.0412	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.30995	-0.9959	10	0.42905	T	0.14	-1.7807	4.5047	0.11881	0.0:0.3155:0.0:0.6845	.	312	Q5VWI1	TCRGL_HUMAN	I	312	ENSP00000357631:K312I	ENSP00000357631:K312I	K	-	2	0	TCERG1L	132855060	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.040000	0.12104	-0.016000	0.14127	0.460000	0.39030	AAA		0.592	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		A	132965070	T	A	132965070	3	1	386	1	0	0	0	0	1	0	0	0	15691	1841	64	5	857	5	TCERG1L	10	132965070	Missense_Mutation	SNP	T	TCGA-BP-4972-01A-01D-1462-08	33848194	132965070	2569677	27	21437											
PLEKHA7	144100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	16838611	16838611	+	Silent	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr11:16838611G>A	ENST00000355661.3	-	11	1612	c.1602C>T	c.(1600-1602)caC>caT	p.H534H	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.H534H|PLEKHA7_ENST00000531066.1_Silent_p.H534H			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	534					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.H534H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGGGCTGCCGTGCCGGAACT	0.677																																																1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1602C>T	11.37:g.16838611G>A			B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	6.224	0.409490	0.11812	.	.	ENSG00000166689	ENST00000530489	.	.	.	5.1	-3.64	0.04515	.	.	.	.	.	T	0.57330	0.2046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56938	-0.7896	4	.	.	.	-25.1936	12.5111	0.56005	0.635:0.0:0.365:0.0	.	.	.	.	M	165	.	.	T	-	2	0	PLEKHA7	16795187	0.727000	0.28069	0.965000	0.40720	0.644000	0.38419	-0.074000	0.11450	-0.731000	0.04862	-1.008000	0.02478	ACG		0.677	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		A	16838611	G	A	16838611	2	1	386	1	0	0	0	0	0	0	0	1	12063	1136	40	1		1	PLEKHA7	11	16838611	Silent	SNP	G	TCGA-BP-4972-01A-01D-1462-08		16838611	118167905	28	21438											
TULP3	7289	hgsc.bcm.edu;ucsc.edu	37	12	3031528	3031528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr12:3031528delT	ENST00000448120.2	+	4	405	c.354delT	c.(352-354)actfs	p.T118fs	TULP3_ENST00000397132.2_Frame_Shift_Del_p.T118fs	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	118					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CCGTGGATACTGCTTCCAAGC	0.453																																																0													131	119	123					12																	3031528		2203	4300	6503	SO:0001589	frameshift_variant	7289			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.354delT	12.37:g.3031528delT	ENSP00000410051:p.Thr118fs		B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Frame_Shift_Del	DEL	ENST00000448120.2	37	CCDS8519.1																																																																																				0.453	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		-	3031528	T	-	3031528	7	5	386	1	0	1	0	1	0	0	0	0	16780	1567	55	0	368	0	TULP3	12	3031528	Frame_Shift_Del	DEL	T	TCGA-BP-4972-01A-01D-1462-08		3031528	130820367	29	21439											
PTPRB	5787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	70965011	70965011	+	Silent	SNP	C	C	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr12:70965011C>T	ENST00000261266.5	-	11	2540	c.2511G>A	c.(2509-2511)gtG>gtA	p.V837V	PTPRB_ENST00000334414.6_Silent_p.V1055V|PTPRB_ENST00000451516.2_Silent_p.V747V|PTPRB_ENST00000551525.1_Silent_p.V1054V|PTPRB_ENST00000550857.1_Silent_p.V747V|PTPRB_ENST00000550358.1_Silent_p.V967V|PTPRB_ENST00000538708.1_Silent_p.V837V	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	837	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V837V(2)|p.V1055V(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGACCAAGTCACATGCAAGT	0.438																																																3	Substitution - coding silent(3)	kidney(3)											95	88	90					12																	70965011		1991	4177	6168	SO:0001819	synonymous_variant	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2511G>A	12.37:g.70965011C>T			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	CCDS44944.1																																																																																				0.438	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			T	70965011	C	T	70965011	2	4	386	1	0	0	0	0	0	0	0	1	12802	813	29	2		2	PTPRB	12	70965011	Silent	SNP	C	TCGA-BP-4972-01A-01D-1462-08	67933483	70965011	62886884	30	21440											
WASF3	10810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	27246116	27246116	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr13:27246116G>T	ENST00000335327.5	+	6	708	c.530G>T	c.(529-531)aGg>aTg	p.R177M	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Missense_Mutation_p.R177M	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	177					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)		p.R177M(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AAAGAGAAAAGGCGTCAAAAG	0.338																																																1	Substitution - Missense(1)	kidney(1)											75	74	74					13																	27246116		2203	4300	6503	SO:0001583	missense	10810			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.530G>T	13.37:g.27246116G>T	ENSP00000335055:p.Arg177Met		O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570714	0.86542	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.54071	0.59;0.59	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.80032	-0.1552	10	0.72032	D	0.01	-22.8345	18.6083	0.91275	0.0:0.0:1.0:0.0	.	177;177	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	M	177	ENSP00000354325:R177M;ENSP00000335055:R177M	ENSP00000335055:R177M	R	+	2	0	WASF3	26144116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.236000	0.95360	2.403000	0.81681	0.650000	0.86243	AGG		0.338	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			T	27246116	G	T	27246116	3	4	386	1	0	0	0	0	1	0	0	0	17259	1000	35	4	544	4	WASF3	13	27246116	Missense_Mutation	SNP	G	TCGA-BP-4972-01A-01D-1462-08		27246116	87923762	31	21441											
SLITRK6	84189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	86370342	86370342	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr13:86370342G>A	ENST00000400286.2	-	2	900	c.302C>T	c.(301-303)gCa>gTa	p.A101V		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	101					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.A101V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTCAATATCTGCAATATTGTT	0.353																																																1	Substitution - Missense(1)	kidney(1)											156	144	148					13																	86370342		1853	4091	5944	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.302C>T	13.37:g.86370342G>A	ENSP00000383143:p.Ala101Val		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	8.716	0.913216	0.17907	.	.	ENSG00000184564	ENST00000400286	T	0.51325	0.71	6.17	5.16	0.70880	.	0.184572	0.48767	D	0.000170	T	0.36026	0.0952	N	0.25825	0.765	0.45995	D	0.998806	B	0.09022	0.002	B	0.06405	0.002	T	0.06661	-1.0814	10	0.32370	T	0.25	-20.423	15.1927	0.73060	0.0791:0.0:0.9209:0.0	.	101	Q9H5Y7	SLIK6_HUMAN	V	101	ENSP00000383143:A101V	ENSP00000383143:A101V	A	-	2	0	SLITRK6	85268343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.437000	0.44828	2.941000	0.99782	0.655000	0.94253	GCA		0.353	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		A	86370342	G	A	86370342	3	1	386	1	0	0	0	0	1	0	0	0	14753	1319	46	2	2227	2	SLITRK6	13	86370342	Missense_Mutation	SNP	G	TCGA-BP-4972-01A-01D-1462-08	59124226	86370342	28799536	32	21442											
C14orf159	80017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	91636352	91636352	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr14:91636352G>T	ENST00000523771.1	+	5	866	c.263G>T	c.(262-264)gGc>gTc	p.G88V	C14orf159_ENST00000520328.1_Missense_Mutation_p.G88V|C14orf159_ENST00000412671.2_Missense_Mutation_p.G88V|C14orf159_ENST00000518868.1_Missense_Mutation_p.G88V|C14orf159_ENST00000256324.10_Missense_Mutation_p.G88V|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000523816.1_Missense_Mutation_p.G88V|C14orf159_ENST00000522322.1_Missense_Mutation_p.G88V|C14orf159_ENST00000521077.2_Missense_Mutation_p.G88V|C14orf159_ENST00000428926.2_Missense_Mutation_p.G88V			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	88						mitochondrion (GO:0005739)		p.G88V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CCCAGGATGGGCCATCCCCAG	0.572																																																1	Substitution - Missense(1)	kidney(1)											73	80	78					14																	91636352		2203	4300	6503	SO:0001583	missense	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.263G>T	14.37:g.91636352G>T	ENSP00000429655:p.Gly88Val		B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	G	4.346	0.063609	0.08388	.	.	ENSG00000133943	ENST00000521334;ENST00000518871;ENST00000520328;ENST00000256324;ENST00000522170;ENST00000519950;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000428926;ENST00000523894;ENST00000522322;ENST00000523771;ENST00000521064;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.99	-1.61	0.08399	.	0.376195	0.28301	N	0.015857	T	0.19167	0.0460	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.19583	0.002;0.037;0.013;0.004;0.004	B;B;B;B;B	0.16289	0.004;0.015;0.014;0.008;0.008	T	0.12734	-1.0536	10	0.87932	D	0	.	4.8185	0.13378	0.3515:0.0:0.4648:0.1837	.	88;88;88;88;88	Q7Z3D6;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.	V	88	ENSP00000430022:G88V;ENSP00000429189:G88V;ENSP00000429453:G88V;ENSP00000256324:G88V;ENSP00000430666:G88V;ENSP00000428296:G88V;ENSP00000430137:G88V;ENSP00000428263:G88V;ENSP00000428974:G88V;ENSP00000428652:G88V;ENSP00000404343:G88V;ENSP00000429459:G88V;ENSP00000427953:G88V;ENSP00000429655:G88V;ENSP00000429392:G88V;ENSP00000404196:G88V	ENSP00000256324:G88V	G	+	2	0	C14orf159	90706105	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.030000	0.30153	-0.367000	0.08052	-1.164000	0.01763	GGC		0.572	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		T	91636352	G	T	91636352	3	4	386	1	0	0	0	0	1	0	0	0	1757	1203	42	4	273	4	C14orf159	14	91636352	Missense_Mutation	SNP	G	TCGA-BP-4972-01A-01D-1462-08		91636352	15713188	33	21443											
TGM5	9333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43552389	43552389	+	Silent	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr15:43552389G>A	ENST00000220420.5	-	3	304	c.297C>T	c.(295-297)tcC>tcT	p.S99S	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	99					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S99S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCACCTCTGTGGAGGTGGCCC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											49	56	53					15																	43552389		2202	4299	6501	SO:0001819	synonymous_variant	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.297C>T	15.37:g.43552389G>A			O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	CCDS32212.1																																																																																				0.647	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		A	43552389	G	A	43552389	2	1	386	1	0	0	0	0	0	0	0	1	15838	1335	47	2		2	TGM5	15	43552389	Silent	SNP	G	TCGA-BP-4972-01A-01D-1462-08		43552389	58979003	34	21444											
LRRK1	79705	broad.mit.edu;hgsc.bcm.edu	37	15	101528945	101528945	+	Silent	SNP	G	G	A	rs200144474		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr15:101528945G>A	ENST00000388948.3	+	5	899	c.540G>A	c.(538-540)ccG>ccA	p.P180P	LRRK1_ENST00000532029.2_Silent_p.P180P|LRRK1_ENST00000284395.5_Silent_p.P177P	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.P180P(1)|p.P153P(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGCTGACCCGGAGAGCTACG	0.617																																																2	Substitution - coding silent(2)	kidney(2)											58	62	61					15																	101528945		2047	4182	6229	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.540G>A	15.37:g.101528945G>A				Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																				0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		A	101528945	G	A	101528945	2	1	386	1	0	0	0	0	0	0	0	1	9034	1103	39	1		1	LRRK1	15	101528945	Silent	SNP	G	TCGA-BP-4972-01A-01D-1462-08	57976556	101528945	1002447	35	21445											
SALL1	6299	hgsc.bcm.edu;ucsc.edu	37	16	51175662	51175662	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr16:51175662G>C	ENST00000251020.4	-	2	504	c.471C>G	c.(469-471)agC>agG	p.S157R	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S60R|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	157	Poly-Ser.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgctgctgctgctgctgc	0.637																																					GBM(103;1352 1446 1855 4775 8890)											0													21	25	24					16																	51175662		2179	4268	6447	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.471C>G	16.37:g.51175662G>C	ENSP00000251020:p.Ser157Arg		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.720876	0.00092	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06068	3.35;3.35	0.225	0.225	0.15325	.	0.410124	0.18238	U	0.147338	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43278	-0.9401	9	0.31617	T	0.26	.	.	.	.	.	157	Q9NSC2	SALL1_HUMAN	R	157;60;121	ENSP00000251020:S157R;ENSP00000407914:S60R	ENSP00000251020:S157R	S	-	3	2	SALL1	49733163	0.257000	0.24022	0.008000	0.14137	0.003000	0.03518	0.431000	0.21444	0.300000	0.22699	0.305000	0.20034	AGC		0.637	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		C	51175662	G	C	51175662	3	2	386	1	0	0	0	0	1	0	0	0	13816	1310	46	4	3511	4	SALL1	16	51175662	Missense_Mutation	SNP	G	TCGA-BP-4972-01A-01D-1462-08		51175662	39179091	36	21446											
THAP11	57215	hgsc.bcm.edu	37	16	67876820	67876820	+	Silent	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr16:67876820G>A	ENST00000303596.1	+	1	608	c.363G>A	c.(361-363)caG>caA	p.Q121Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	121	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcagcagcaacagcagc	0.677																																																0													28	33	31					16																	67876820		1970	3892	5862	SO:0001819	synonymous_variant	57215			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.363G>A	16.37:g.67876820G>A			A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	CCDS10847.1																																																																																				0.677	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		A	67876820	G	A	67876820	2	1	386	1	0	0	0	0	0	0	0	1	15848	962	34	2		2	THAP11	16	67876820	Silent	SNP	G	TCGA-BP-4972-01A-01D-1462-08	16701158	67876820	22477933	37	21447											
CACNB1	782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37341384	37341384	+	Splice_Site	SNP	C	C	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr17:37341384C>T	ENST00000394303.3	-	7	855	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CACNB1_ENST00000344140.5_Intron|CACNB1_ENST00000394310.3_Splice_Site_p.S216S|CACNB1_ENST00000582877.1_5'Flank	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	216					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.S216S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGATACTCACCGACTTCTGCT	0.597																																					Esophageal Squamous(5;100 366 38393 41452 45827)											1	Substitution - coding silent(1)	kidney(1)											73	78	76					17																	37341384		1985	4165	6150	SO:0001630	splice_region_variant	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.648+1G>A	17.37:g.37341384C>T			A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	CCDS42311.1																																																																																				0.597	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3		Silent	T	37341384	C	T	37341384	5	4	386	1	0	0	0	0	0	0	1	0	2554	666	23	1	1285	1	CACNB1	17	37341384	Splice_Site	SNP	C	TCGA-BP-4972-01A-01D-1462-08		37341384	43853826	38	21448											
HGS	9146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79667601	79667601	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr17:79667601T>C	ENST00000329138.4	+	19	2122	c.1987T>C	c.(1987-1989)Tac>Cac	p.Y663H	SLC25A10_ENST00000571730.1_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|MRPL12_ENST00000333676.3_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	663	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.Y663H(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TTACTCATCCTACCAGCCTAC	0.706																																																1	Substitution - Missense(1)	kidney(1)											25	31	29					17																	79667601		2202	4300	6502	SO:0001583	missense	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1987T>C	17.37:g.79667601T>C	ENSP00000331201:p.Tyr663His		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597591	0.46318	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.38887	1.11	4.65	4.65	0.58169	.	3.725590	0.00531	N	0.000206	T	0.48169	0.1485	L	0.54323	1.7	0.58432	D	0.999997	P	0.48998	0.918	P	0.45167	0.472	T	0.45041	-0.9288	10	0.16896	T	0.51	-17.0111	13.037	0.58877	0.0:0.0:0.0:1.0	.	663	O14964	HGS_HUMAN	H	663;577	ENSP00000331201:Y663H	ENSP00000331201:Y663H	Y	+	1	0	HGS	77278006	1.000000	0.71417	0.904000	0.35570	0.016000	0.09150	7.012000	0.76366	1.964000	0.57103	0.482000	0.46254	TAC		0.706	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		C	79667601	T	C	79667601	3	2	386	1	0	0	0	0	1	0	0	0	7089	1522	53	3	2061	3	HGS	17	79667601	Missense_Mutation	SNP	T	TCGA-BP-4972-01A-01D-1462-08	42326217	79667601	1527609	39	21449											
ACP5	54	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11687390	11687390	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr19:11687390G>A	ENST00000592828.1	-	6	805	c.403C>T	c.(403-405)Cct>Tct	p.P135S	ACP5_ENST00000412435.2_Missense_Mutation_p.P135S|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.P135S|ACP5_ENST00000218758.5_Missense_Mutation_p.P135S	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	135					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)	p.P135S(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CGGTAGAAAGGGCTGGGGAAG	0.562																																																1	Substitution - Missense(1)	kidney(1)											81	90	87					19																	11687390		2203	4300	6503	SO:0001583	missense	54			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"tartrate-resistant acid phosphatase"	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.403C>T	19.37:g.11687390G>A	ENSP00000468767:p.Pro135Ser		A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	g	4.926	0.172087	0.09391	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	D;D;D	0.84873	-1.91;-1.91;-1.91	5.13	5.13	0.70059	Metallophosphoesterase domain (1);	0.378221	0.30920	N	0.008603	T	0.69342	0.3100	N	0.12853	0.265	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.63594	-0.6602	10	0.22109	T	0.4	0.4086	7.9798	0.30177	0.1769:0.0:0.8231:0.0	.	135	P13686	PPA5_HUMAN	S	135	ENSP00000218758:P135S;ENSP00000392374:P135S;ENSP00000413456:P135S	ENSP00000218758:P135S	P	-	1	0	ACP5	11548390	0.989000	0.36119	0.941000	0.38009	0.007000	0.05969	2.365000	0.44196	2.377000	0.81083	0.655000	0.94253	CCT		0.562	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			A	11687390	G	A	11687390	3	1	386	1	0	0	0	0	1	0	0	0	164	1232	43	2	582	2	ACP5	19	11687390	Missense_Mutation	SNP	G	TCGA-BP-4972-01A-01D-1462-08		11687390	47441593	40	21450											
ZNF714	148206	hgsc.bcm.edu	37	19	21300833	21300835	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr19:21300833_21300835delGAA	ENST00000596143.1	+	5	1688_1690	c.1363_1365delGAA	c.(1363-1365)gaadel	p.E456del	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CTACAAATGTGAAGAATGTGGCA	0.369																																																0																																										SO:0001651	inframe_deletion	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1363_1365delGAA	19.37:g.21300836_21300838delGAA	ENSP00000472368:p.Glu456del		Q49AI1|Q86W65|Q8ND40	In_Frame_Del	DEL	ENST00000596143.1	37	CCDS54239.1																																																																																				0.369	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		-	21300835	GAA	-	21300833	7	5	386	1	0	1	0	1	0	0	0	0	18123	1291	45	0	1373	0	ZNF714	19	21300833	In_Frame_Del	DEL	GAA	TCGA-BP-4972-01A-01D-1462-08	9613443	21300833	37828150	41	21451											
C22orf9	23313	broad.mit.edu	37	22	45601765	45601765	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chr22:45601765A>C	ENST00000336156.5	-	3	310	c.245T>G	c.(244-246)gTg>gGg	p.V82G	KIAA0930_ENST00000251993.7_Missense_Mutation_p.V87G|KIAA0930_ENST00000391627.2_Missense_Mutation_p.V48G|KIAA0930_ENST00000443310.3_Missense_Mutation_p.V64G	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	82								p.V87G(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CCGCCGGTACACCTCCACCTC	0.612																																																1	Substitution - Missense(1)	kidney(1)											62	59	60					22																	45601765		2203	4300	6503	SO:0001583	missense	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.245T>G	22.37:g.45601765A>C	ENSP00000336720:p.Val82Gly		B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600735	0.87055	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.22	4.22	0.49857	.	0.192306	0.44483	D	0.000447	T	0.78142	0.4237	M	0.77486	2.375	0.80722	D	1	D;D;P;D	0.76494	0.999;0.961;0.928;0.991	D;P;B;P	0.81914	0.995;0.651;0.44;0.864	T	0.81538	-0.0887	9	0.72032	D	0.01	-21.2036	13.6402	0.62246	1.0:0.0:0.0:0.0	.	64;82;87;153	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	G	82;87;48;64;48;64	.	ENSP00000251993:V87G	V	-	2	0	KIAA0930	43980429	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.624000	0.90961	1.704000	0.51252	0.459000	0.35465	GTG		0.612	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		C	45601765	A	C	45601765	3	2	386	1	0	0	0	0	1	0	0	0	2153	159	6	5	1001	5	C22orf9	22	45601765	Missense_Mutation	SNP	A	TCGA-BP-4972-01A-01D-1462-08		45601765	5702801	42	21452											
GPRASP1	9737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101910199	101910199	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chrX:101910199G>T	ENST00000361600.5	+	5	2159	c.1358G>T	c.(1357-1359)aGt>aTt	p.S453I	GPRASP1_ENST00000415986.1_Missense_Mutation_p.S453I|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S453I|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S453I|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	453					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S453I(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGGGCTAGCAGTAAATCCAGA	0.507																																																1	Substitution - Missense(1)	kidney(1)											116	103	108					X																	101910199		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1358G>T	X.37:g.101910199G>T	ENSP00000355146:p.Ser453Ile		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	g	3.250	-0.153545	0.06585	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	2.78	-3.77	0.04346	.	.	.	.	.	T	0.05227	0.0139	L	0.40543	1.245	0.09310	N	1	B	0.29909	0.261	B	0.28553	0.091	T	0.37526	-0.9702	9	0.30854	T	0.27	2.9843	1.3848	0.02238	0.5117:0.1561:0.1743:0.1579	.	453	Q5JY77	GASP1_HUMAN	I	453	ENSP00000393691:S453I;ENSP00000409420:S453I;ENSP00000355146:S453I;ENSP00000445683:S453I	ENSP00000355146:S453I	S	+	2	0	GPRASP1	101796855	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.582000	0.05814	-1.148000	0.02847	0.519000	0.50382	AGT		0.507	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		T	101910199	G	T	101910199	3	4	386	1	0	0	0	0	1	0	0	0	6724	1029	36	4	1360	4	GPRASP1	23	101910199	Missense_Mutation	SNP	G	TCGA-BP-4972-01A-01D-1462-08		101910199	53360361	43	21453											
COL4A5	1287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107868987	107868987	+	Silent	SNP	T	T	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chrX:107868987T>G	ENST00000361603.2	+	35	3313	c.3069T>G	c.(3067-3069)ccT>ccG	p.P1023P	COL4A5_ENST00000328300.6_Silent_p.P1023P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1023	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.P1023P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TAGGACCTCCTGGACTTAAAG	0.413									Alport syndrome with Diffuse Leiomyomatosis																																							1	Substitution - coding silent(1)	kidney(1)											73	65	68					X																	107868987		2203	4300	6503	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3069T>G	X.37:g.107868987T>G			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	T	8.940	0.965540	0.18583	.	.	ENSG00000188153	ENST00000505728	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55398	-0.8147	4	.	.	.	.	6.4382	0.21835	0.1392:0.0:0.2406:0.6202	.	.	.	.	R	101	.	.	L	+	2	0	COL4A5	107755643	0.995000	0.38212	1.000000	0.80357	0.908000	0.53690	0.220000	0.17660	1.801000	0.52704	0.412000	0.27726	CTG		0.413	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			G	107868987	T	G	107868987	2	3	386	1	0	0	0	0	0	0	0	1	3696	1567	55	5		5	COL4A5	23	107868987	Silent	SNP	T	TCGA-BP-4972-01A-01D-1462-08	5958788	107868987	47401573	44	21454											
LRCH2	57631	broad.mit.edu;hgsc.bcm.edu	37	X	114398272	114398272	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chrX:114398272G>T	ENST00000317135.8	-	11	1460	c.1430C>A	c.(1429-1431)gCt>gAt	p.A477D	LRCH2_ENST00000538422.1_Missense_Mutation_p.A477D	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	477								p.A477D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TAACTGAGCAGCTATTTTCCT	0.333																																																2	Substitution - Missense(2)	kidney(2)											149	118	128					X																	114398272		1870	4091	5961	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1430C>A	X.37:g.114398272G>T	ENSP00000325091:p.Ala477Asp		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362541	0.82353	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	D;T	0.83992	-1.79;5.36	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	L	0.58101	1.795	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.956	D	0.88490	0.3075	10	0.40728	T	0.16	-8.9958	16.1382	0.81506	0.0:0.0:1.0:0.0	.	477;477	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	D	477	ENSP00000325091:A477D;ENSP00000439366:A477D	ENSP00000325091:A477D	A	-	2	0	LRCH2	114304528	1.000000	0.71417	0.937000	0.37676	0.928000	0.56348	8.791000	0.91849	2.111000	0.64477	0.422000	0.28245	GCT		0.333	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		T	114398272	G	T	114398272	3	4	386	1	0	0	0	0	1	0	0	0	8935	971	34	4	911	4	LRCH2	23	114398272	Missense_Mutation	SNP	G	TCGA-BP-4972-01A-01D-1462-08	6529285	114398272	40872288	45	21455											
SLC6A14	11254	hgsc.bcm.edu	37	X	115572174	115572175	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chrX:115572174_115572175insG	ENST00000371900.4	+	3	343_344	c.255_256insG	c.(256-258)ggtfs	p.G86fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	86					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TAGCATTGGCTGGTTTACCTTT	0.406																																																0																																										SO:0001589	frameshift_variant	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.257dupG	X.37:g.115572176_115572176dupG	ENSP00000360967:p.Gly86fs		Q5H942	Frame_Shift_Ins	INS	ENST00000371900.4	37	CCDS14570.1																																																																																				0.406	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			G	115572175	-	G	115572174	7	5	386	1	0	1	1	0	0	0	0	0	14683	1567	55	0	265	0	SLC6A14	23	115572174	Frame_Shift_Ins	INS	-	TCGA-BP-4972-01A-01D-1462-08	1173902	115572174	39698386	46	21456											
AIFM1	9131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129265759	129265759	+	Silent	SNP	G	G	A	rs146608893		TCGA-BP-4972-01A-01D-1462-08	TCGA-BP-4972-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2da5d39-33f6-4807-9d1d-92b7cef2a8df	81fc4193-ce13-4390-b0ad-1c40656c0841	g.chrX:129265759G>A	ENST00000287295.3	-	14	1694	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Silent_p.P484P|AIFM1_ENST00000440263.1_Silent_p.P136P|AIFM1_ENST00000346424.2_Silent_p.P201P|AIFM1_ENST00000460436.2_Silent_p.P149P	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	488					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.P488P(2)|p.P484P(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	AGCCAACATCGGGGCCCAAAT	0.458																																																4	Substitution - coding silent(4)	ovary(2)|kidney(2)						G	,,,,	1,3834		0,1,1631,571	124	110	115		408,,1464,1452,603	-7.9	0.8	X	dbSNP_134	115	0,6728		0,0,2428,1872	no	coding-synonymous,utr-3,coding-synonymous,coding-synonymous,coding-synonymous	AIFM1	NM_001130846.2,NM_001130847.3,NM_004208.3,NM_145812.2,NM_145813.2	,,,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,,,	136/262,,488/614,484/610,201/327	129265759	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1464C>T	X.37:g.129265759G>A			A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	CCDS14618.1																																																																																				0.458	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			A	129265759	G	A	129265759	2	1	386	1	0	0	0	0	0	0	0	1	426	1103	39	1		1	AIFM1	23	129265759	Silent	SNP	G	TCGA-BP-4972-01A-01D-1462-08	13693585	129265759	26004801	47	21457											
CDK11B	8510	hgsc.bcm.edu	37	1	1571829	1571829	+	IGR	SNP	A	A	G	rs147836863	byFrequency	TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr1:1571829A>G	ENST00000356026.5	+	0	1326				CDK11B_ENST00000341832.6_Silent_p.P600P|CDK11B_ENST00000340677.5_Silent_p.P634P|CDK11B_ENST00000407249.3_Silent_p.P647P|CDK11B_ENST00000317673.7_Silent_p.P645P			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	TTTTCTCACTAGGGGTCCCCA	0.587																																																0													55	48	50					1																	1571829		1923	4121	6044	SO:0001628	intergenic_variant	984				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7171	protein-coding gene	gene with protein product	"matrix metalloproteinase 22", "femalysin", "matrix metalloproteinase in the female reproductive tract"	603321	"matrix metalloproteinase 23B"	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1571829A>G			A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Silent	SNP	ENST00000356026.5	37	CCDS30559.1																																																																																				0.587	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983		G	1571829	A	G	1571829	1	3	387	0	1	0	0	0	0	0	0	0	3129	407	15	3		3	CDK11B	1	1571829	IGR	SNP	A	TCGA-BP-4973-01A-01D-1462-08		1571829	247678792	1	21458											
COL8A2	1296	broad.mit.edu;hgsc.bcm.edu	37	1	36564618	36564618	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr1:36564618C>A	ENST00000397799.1	-	4	888	c.664G>T	c.(664-666)Ggg>Tgg	p.G222W	COL8A2_ENST00000481785.1_Missense_Mutation_p.G157W|COL8A2_ENST00000303143.4_Missense_Mutation_p.G222W			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	222	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G222W(1)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGCACCCCCCTGCCCTGGG	0.721																																																1	Substitution - Missense(1)	kidney(1)											7	9	8					1																	36564618		1870	3783	5653	SO:0001583	missense	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.664G>T	1.37:g.36564618C>A	ENSP00000380901:p.Gly222Trp		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630835	0.28978	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.91351	-2.81;-2.81;-2.83	4.57	2.7	0.31948	.	0.324233	0.33023	N	0.005371	D	0.88757	0.6523	L	0.34521	1.04	0.31148	N	0.705888	P	0.34699	0.464	P	0.47075	0.536	D	0.87294	0.2301	10	0.72032	D	0.01	.	10.1212	0.42621	0.0:0.8349:0.0:0.1651	.	222	P25067	CO8A2_HUMAN	W	222;222;157;222	ENSP00000305913:G222W;ENSP00000380901:G222W;ENSP00000436433:G157W	ENSP00000305913:G222W	G	-	1	0	COL8A2	36337205	0.030000	0.19436	0.992000	0.48379	0.875000	0.50365	1.282000	0.33226	0.556000	0.29098	0.511000	0.50034	GGG		0.721	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		A	36564618	C	A	36564618	3	1	387	1	0	0	0	0	1	0	0	0	3708	623	22	4	1451	4	COL8A2	1	36564618	Missense_Mutation	SNP	C	TCGA-BP-4973-01A-01D-1462-08	34992789	36564618	212686003	2	21459											
ARHGAP29	9411	broad.mit.edu;ucsc.edu	37	1	94649704	94649707	+	Splice_Site	DEL	TACC	TACC	-			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	TACC	TACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr1:94649704_94649707delTACC	ENST00000260526.6	-	19	2429_2430	c.2247_2248delGGTA	c.(2245-2250)caggta>cata	p.QV749fs	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	749	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TAAAAATTTTTACCTGCCGAAGGT	0.309																																																0																																										SO:0001630	splice_region_variant	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2247+1GGTA>-	1.37:g.94649704_94649707delTACC			O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Splice_Site	DEL	ENST00000260526.6	37	CCDS748.1																																																																																				0.309	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	Frame_Shift_Del	-	94649707	TACC	-	94649704	8	5	387	1	0	1	0	1	0	0	1	0	878	1769	61	0		0	ARHGAP29	1	94649704	Splice_Site	DEL	TACC	TCGA-BP-4973-01A-01D-1462-08	58085086	94649704	154600917	3	21460											
NUP210L	91181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154042867	154042867	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr1:154042867A>C	ENST00000368559.3	-	17	2507	c.2436T>G	c.(2434-2436)aaT>aaG	p.N812K	NUP210L_ENST00000271854.3_Missense_Mutation_p.N812K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	812					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.N812K(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTGAACTGAAATTATCAAACT	0.358																																																1	Substitution - Missense(1)	kidney(1)											117	106	110					1																	154042867		1862	4088	5950	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2436T>G	1.37:g.154042867A>C	ENSP00000357547:p.Asn812Lys		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.722864	0.48728	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.25749	1.78;1.78	5.06	1.0	0.19881	.	0.000000	0.56097	D	0.000026	T	0.17066	0.0410	M	0.74647	2.275	0.36739	D	0.882123	P;P	0.39665	0.682;0.457	B;B	0.42798	0.398;0.227	T	0.02901	-1.1096	10	0.87932	D	0	-20.8226	7.1832	0.25784	0.6076:0.0:0.3924:0.0	.	812;812	E7EP56;Q5VU65	.;P210L_HUMAN	K	812	ENSP00000357547:N812K;ENSP00000271854:N812K	ENSP00000271854:N812K	N	-	3	2	NUP210L	152309491	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.822000	0.27352	0.289000	0.22422	0.329000	0.21502	AAT		0.358	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		C	154042867	A	C	154042867	3	2	387	1	0	0	0	0	1	0	0	0	10763	98	4	5	3326	5	NUP210L	1	154042867	Missense_Mutation	SNP	A	TCGA-BP-4973-01A-01D-1462-08	59393163	154042867	95207754	4	21461											
URB2	9816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	229773797	229773797	+	Missense_Mutation	SNP	C	C	T	rs141779194		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr1:229773797C>T	ENST00000258243.2	+	4	3573	c.3437C>T	c.(3436-3438)aCg>aTg	p.T1146M		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1146						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.T1146M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGCGACAGGACGCTGCTCTCC	0.582																																																1	Substitution - Missense(1)	kidney(1)						C	MET/THR	0,4406		0,0,2203	104	106	105		3437	-2.8	0	1	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense	URB2	NM_014777.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1146/1525	229773797	1,13005	2203	4300	6503	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3437C>T	1.37:g.229773797C>T	ENSP00000258243:p.Thr1146Met		Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	6.837	0.523727	0.13066	0.0	1.16E-4	ENSG00000135763	ENST00000258243	T	0.30714	1.52	5.12	-2.83	0.05769	.	1.663720	0.02878	N	0.132484	T	0.14743	0.0356	N	0.03608	-0.345	0.09310	N	1	B	0.19935	0.04	B	0.09377	0.004	T	0.22556	-1.0213	9	.	.	.	0.171	12.2796	0.54757	0.0:0.4606:0.0:0.5394	.	1146	Q14146	URB2_HUMAN	M	1146	ENSP00000258243:T1146M	.	T	+	2	0	URB2	227840420	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.770000	0.04705	-0.536000	0.06298	-0.225000	0.12378	ACG		0.582	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		T	229773797	C	T	229773797	3	4	387	1	0	0	0	0	1	0	0	0	17030	536	19	1	3447	1	URB2	1	229773797	Missense_Mutation	SNP	C	TCGA-BP-4973-01A-01D-1462-08	75730930	229773797	19476824	5	21462											
CNNM3	26505	broad.mit.edu	37	2	97493923	97493923	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr2:97493923C>T	ENST00000305510.3	+	5	1805	c.1777C>T	c.(1777-1779)Cca>Tca	p.P593S	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.P545S	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	593					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.P593S(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CCTAACTGTGCCATCCTCGGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											94	91	92					2																	97493923		2203	4300	6503	SO:0001583	missense	26505			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"cyclin M3"	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1777C>T	2.37:g.97493923C>T	ENSP00000305449:p.Pro593Ser		B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767782	0.49574	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90563	-2.52;-2.69	5.27	5.27	0.74061	.	0.212946	0.40385	N	0.001104	D	0.86920	0.6049	L	0.41710	1.295	0.80722	D	1	B;B	0.21520	0.02;0.057	B;B	0.27715	0.054;0.082	T	0.81682	-0.0822	10	0.13470	T	0.59	-21.622	17.8158	0.88634	0.0:1.0:0.0:0.0	.	545;593	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	S	545;545;593	ENSP00000366260:P545S;ENSP00000305449:P593S	ENSP00000305449:P593S	P	+	1	0	CNNM3	96857650	0.554000	0.26522	0.828000	0.32881	0.074000	0.17049	2.733000	0.47360	2.746000	0.94184	0.561000	0.74099	CCA		0.607	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		T	97493923	C	T	97493923	3	4	387	1	0	0	0	0	1	0	0	0	3616	739	26	2	1795	2	CNNM3	2	97493923	Missense_Mutation	SNP	C	TCGA-BP-4973-01A-01D-1462-08		97493923	145705450	6	21463											
VHL	7428	hgsc.bcm.edu	37	3	10183744	10183744	+	Silent	SNP	C	C	T	rs201663073	byFrequency	TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr3:10183744C>T	ENST00000256474.2	+	1	1053	c.213C>T	c.(211-213)ccC>ccT	p.P71P	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Silent_p.P71P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	71			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S72fs*87(7)|p.E70fs*85(1)|p.P71fs*84(1)|p.N67fs*59(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.P71fs*56(1)|p.V74fs*51(1)|p.E70_S72>A(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCGCGAGCCCTCCCAGGTCA	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				c|||	4	0.000798722	0.0	0.0	5008	,	,		11793	0.001		0.0	False		,,,				2504	0.0031					yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	15	Deletion - Frameshift(13)|Complex - deletion inframe(1)|Deletion - In frame(1)	kidney(14)|soft_tissue(1)	GRCh37	CI962362	VHL	I							9	13	12					3																	10183744		2153	4222	6375	SO:0001819	synonymous_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.213C>T	3.37:g.10183744C>T			B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183744	C	T	10183744	2	4	387	1	0	0	0	0	0	0	0	1	17167	668	24	2		2	VHL	3	10183744	Silent	SNP	C	TCGA-BP-4973-01A-01D-1462-08		10183744	187838686	7	21464											
CTNNB1	1499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	41275110	41275110	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr3:41275110A>G	ENST00000349496.5	+	9	1556	c.1276A>G	c.(1276-1278)Aac>Gac	p.N426D	CTNNB1_ENST00000453024.1_Missense_Mutation_p.N419D|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N426D|CTNNB1_ENST00000405570.1_Missense_Mutation_p.N426D|CTNNB1_ENST00000396183.3_Missense_Mutation_p.N426D	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	426					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N426D(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AATTCTTTCTAACCTCACTTG	0.468		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	1	Substitution - Missense(1)	kidney(1)											154	151	152					3																	41275110		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1276A>G	3.37:g.41275110A>G	ENSP00000344456:p.Asn426Asp		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824100	0.90873	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	D	0.88754	0.3252	10	0.72032	D	0.01	-18.2522	16.255	0.82510	1.0:0.0:0.0:0.0	.	354;419;426	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	D	426;426;426;419;426	ENSP00000385604:N426D;ENSP00000379486:N426D;ENSP00000344456:N426D;ENSP00000411226:N419D;ENSP00000379488:N426D	ENSP00000344456:N426D	N	+	1	0	CTNNB1	41250114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	AAC		0.468	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		G	41275110	A	G	41275110	3	3	387	1	0	0	0	0	1	0	0	0	4018	362	13	3	1306	3	CTNNB1	3	41275110	Missense_Mutation	SNP	A	TCGA-BP-4973-01A-01D-1462-08	31091366	41275110	156747320	8	21465											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643770	52643770	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr3:52643770A>G	ENST00000296302.7	-	16	2127	c.2126T>C	c.(2125-2127)aTt>aCt	p.I709T	PBRM1_ENST00000337303.4_Missense_Mutation_p.I709T|PBRM1_ENST00000409114.3_Missense_Mutation_p.I724T|PBRM1_ENST00000409767.1_Missense_Mutation_p.I724T|PBRM1_ENST00000409057.1_Missense_Mutation_p.I709T|PBRM1_ENST00000394830.3_Missense_Mutation_p.I709T|PBRM1_ENST00000356770.4_Missense_Mutation_p.I677T|PBRM1_ENST00000410007.1_Missense_Mutation_p.I709T			Q86U86	PB1_HUMAN	polybromo 1	709	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I709T(2)|p.I677T(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTGACTTCGAATTTTTTCCAT	0.438			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											146	142	143					3																	52643770		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2126T>C	3.37:g.52643770A>G	ENSP00000296302:p.Ile709Thr		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	22.6	4.304928	0.81247	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	6.17	6.17	0.99709	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	H	0.95079	3.62	0.80722	D	1	D;P;D;D;D;P;P;P;D;P;D	0.76494	0.965;0.905;0.978;0.997;0.999;0.956;0.895;0.955;0.994;0.884;0.998	P;P;P;D;D;P;B;P;D;B;D	0.87578	0.798;0.719;0.848;0.96;0.998;0.551;0.42;0.761;0.958;0.412;0.996	D	0.87814	0.2633	10	0.59425	D	0.04	-24.7519	16.8222	0.85835	1.0:0.0:0.0:0.0	.	709;84;709;709;709;709;724;724;709;677;709	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	T	677;709;709;709;709;709;724;724;709;668	ENSP00000349213:I677T;ENSP00000378307:I709T;ENSP00000296302:I709T;ENSP00000338302:I709T;ENSP00000386593:I709T;ENSP00000386529:I709T;ENSP00000386643:I724T;ENSP00000386601:I724T;ENSP00000387775:I709T;ENSP00000397662:I668T	ENSP00000296302:I709T	I	-	2	0	PBRM1	52618810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	2.371000	0.80710	0.533000	0.62120	ATT		0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		G	52643770	A	G	52643770	3	3	387	1	0	0	0	0	1	0	0	0	11493	101	4	3	2834	3	PBRM1	3	52643770	Missense_Mutation	SNP	A	TCGA-BP-4973-01A-01D-1462-08	11368660	52643770	145378660	9	21466											
NPHP3	27031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132418875	132418875	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr3:132418875G>T	ENST00000337331.5	-	12	1860	c.1774C>A	c.(1774-1776)Ctg>Atg	p.L592M	NPHP3_ENST00000326682.8_Missense_Mutation_p.L592M	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	592					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.L592M(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAGTGTCAGAGCAGAGACT	0.443																																																1	Substitution - Missense(1)	kidney(1)											73	70	71					3																	132418875		2203	4300	6503	SO:0001583	missense	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1774C>A	3.37:g.132418875G>T	ENSP00000338766:p.Leu592Met		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218057	0.58560	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	T;T	0.77877	-1.13;-1.13	5.68	2.61	0.31194	.	0.072320	0.56097	D	0.000028	T	0.82084	0.4960	M	0.69823	2.125	0.50632	D	0.999885	D	0.52996	0.957	P	0.62184	0.899	T	0.79032	-0.1969	10	0.51188	T	0.08	-3.369	4.9212	0.13871	0.2946:0.0:0.5652:0.1402	.	592	Q7Z494	NPHP3_HUMAN	M	592	ENSP00000319909:L592M;ENSP00000338766:L592M	ENSP00000319909:L592M	L	-	1	2	NPHP3	133901565	0.510000	0.26171	0.150000	0.22450	0.977000	0.68977	0.975000	0.29449	0.601000	0.29879	0.650000	0.86243	CTG		0.443	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		T	132418875	G	T	132418875	3	4	387	1	0	0	0	0	1	0	0	0	10582	933	33	4	2282	4	NPHP3	3	132418875	Missense_Mutation	SNP	G	TCGA-BP-4973-01A-01D-1462-08	79775105	132418875	65603555	10	21467											
RBPJ	3516	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	26426100	26426100	+	Splice_Site	SNP	C	C	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr4:26426100C>T	ENST00000361572.6	+	6	866	c.672C>T	c.(670-672)ctC>ctT	p.L224L	RBPJ_ENST00000342295.1_Splice_Site_p.L224L|RBPJ_ENST00000507561.1_Splice_Site_p.L189L|RBPJ_ENST00000355476.3_Splice_Site_p.L210L|RBPJ_ENST00000342320.4_Splice_Site_p.L210L|RBPJ_ENST00000345843.3_Splice_Site_p.L209L|RBPJ_ENST00000504907.1_Splice_Site_p.L210L|RBPJ_ENST00000348160.4_Splice_Site_p.L211L			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	224					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L210L(1)|p.L211L(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TTATTCATCTCTGTGAGTATA	0.348																																																2	Substitution - coding silent(2)	kidney(2)											102	107	105					4																	26426100		2203	4300	6503	SO:0001630	splice_region_variant	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.673+1C>T	4.37:g.26426100C>T			B4DY22|Q5XKH9|Q6P1N3	Silent	SNP	ENST00000361572.6	37	CCDS3437.1																																																																																				0.348	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874	Silent	T	26426100	C	T	26426100	5	4	387	1	0	0	0	0	0	0	1	0	13167	927	32	2	757	2	RBPJ	4	26426100	Splice_Site	SNP	C	TCGA-BP-4973-01A-01D-1462-08		26426100	164728176	11	21468											
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89979836	89979836	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr5:89979836G>C	ENST00000405460.2	+	28	6194	c.6098G>C	c.(6097-6099)aGa>aCa	p.R2033T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2033	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R2033T(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATTTAGCGAGAGCAACTCAA	0.378																																																1	Substitution - Missense(1)	kidney(1)											86	82	84					5																	89979836		1842	4082	5924	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6098G>C	5.37:g.89979836G>C	ENSP00000384582:p.Arg2033Thr		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776062	0.70107	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.19250	2.16	5.71	4.84	0.62591	Na-Ca exchanger/integrin-beta4 (2);	0.045007	0.85682	D	0.000000	T	0.46229	0.1382	M	0.76838	2.35	0.80722	D	1	D	0.56287	0.975	D	0.64237	0.923	T	0.51196	-0.8736	10	0.72032	D	0.01	.	14.9132	0.70773	0.0692:0.0:0.9308:0.0	.	2033	Q8WXG9	GPR98_HUMAN	T	2033	ENSP00000384582:R2033T	ENSP00000296619:R2033T	R	+	2	0	GPR98	90015592	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.363000	0.73082	1.412000	0.46977	0.591000	0.81541	AGA		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	89979836	G	C	89979836	3	2	387	1	0	0	0	0	1	0	0	0	6723	942	33	4	6208	4	GPR98	5	89979836	Missense_Mutation	SNP	G	TCGA-BP-4973-01A-01D-1462-08		89979836	90935424	12	21469											
PCDHB15	56121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140625223	140625223	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr5:140625223C>T	ENST00000231173.3	+	1	77	c.77C>T	c.(76-78)gCa>gTa	p.A26V		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	26					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A26V(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGACTCTGGCAGGCTGGGAA	0.537																																																1	Substitution - Missense(1)	kidney(1)											68	75	72					5																	140625223		2203	4300	6503	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.77C>T	5.37:g.140625223C>T	ENSP00000231173:p.Ala26Val		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349640	0.24426	.	.	ENSG00000113248	ENST00000231173	T	0.51071	0.72	4.92	4.03	0.46877	.	.	.	.	.	T	0.43344	0.1243	L	0.48935	1.535	0.30610	N	0.759581	B	0.17038	0.02	B	0.19666	0.026	T	0.41698	-0.9494	9	0.29301	T	0.29	.	15.0589	0.71936	0.0:0.8568:0.1432:0.0	.	26	Q9Y5E8	PCDBF_HUMAN	V	26	ENSP00000231173:A26V	ENSP00000231173:A26V	A	+	2	0	PCDHB15	140605407	0.008000	0.16893	0.866000	0.34008	0.817000	0.46193	1.045000	0.30341	1.162000	0.42619	0.491000	0.48974	GCA		0.537	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		T	140625223	C	T	140625223	3	4	387	1	0	0	0	0	1	0	0	0	11542	710	25	2	79	2	PCDHB15	5	140625223	Missense_Mutation	SNP	C	TCGA-BP-4973-01A-01D-1462-08	50645387	140625223	40290037	13	21470											
ATP10B	23120	broad.mit.edu;ucsc.edu	37	5	160061395	160061395	+	Silent	SNP	G	G	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr5:160061395G>A	ENST00000327245.5	-	12	2193	c.1347C>T	c.(1345-1347)acC>acT	p.T449T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	449					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T449T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCCATGATGGTGCAACGTC	0.507																																																1	Substitution - coding silent(1)	kidney(1)											130	130	130					5																	160061395		1957	4148	6105	SO:0001819	synonymous_variant	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1347C>T	5.37:g.160061395G>A			Q9H725	Silent	SNP	ENST00000327245.5	37	CCDS43394.1																																																																																				0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		A	160061395	G	A	160061395	2	1	387	1	0	0	0	0	0	0	0	1	1117	1335	47	2		2	ATP10B	5	160061395	Silent	SNP	G	TCGA-BP-4973-01A-01D-1462-08	19436172	160061395	20853865	14	21471											
SLIT3	6586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	168098202	168098202	+	Splice_Site	SNP	C	C	G			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr5:168098202C>G	ENST00000519560.1	-	34	4547		c.e34+1		SLIT3_ENST00000404867.3_Splice_Site|SLIT3_ENST00000332966.8_Splice_Site	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.?(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGACACTGACCTGTGGCCGA	0.667																																					Ovarian(29;311 847 10864 17279 24903)											1	Unknown(1)	kidney(1)											21	23	22					5																	168098202		2165	4261	6426	SO:0001630	splice_region_variant	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4127+1G>C	5.37:g.168098202C>G			A6H8U9|J3KNP3|O95804|Q9UFH5	Splice_Site	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936915	0.73557	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2563	0.93947	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLIT3	168030780	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.771000	0.85420	2.545000	0.85829	0.462000	0.41574	.		0.667	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	Intron	G	168098202	C	G	168098202	5	3	387	1	0	0	0	0	0	0	1	0	14747	521	18	4	455	4	SLIT3	5	168098202	Splice_Site	SNP	C	TCGA-BP-4973-01A-01D-1462-08	8036807	168098202	12817058	15	21472											
DOCK2	1794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	169477270	169477270	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr5:169477270T>A	ENST00000256935.8	+	41	4162	c.4082T>A	c.(4081-4083)tTc>tAc	p.F1361Y	DOCK2_ENST00000540750.1_Missense_Mutation_p.F422Y|DOCK2_ENST00000520908.1_Missense_Mutation_p.F853Y|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1361	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.F1361Y(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACAAAGTGTTCATCTACCGC	0.507																																																1	Substitution - Missense(1)	kidney(1)											137	142	141					5																	169477270		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4082T>A	5.37:g.169477270T>A	ENSP00000256935:p.Phe1361Tyr		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	31	5.066166	0.93898	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.19806	2.78;2.4;2.12	5.42	5.42	0.78866	.	0.057300	0.64402	D	0.000001	T	0.44244	0.1284	M	0.68728	2.09	0.46849	D	0.999229	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.984	T	0.23762	-1.0179	10	0.33940	T	0.23	.	15.4528	0.75285	0.0:0.0:0.0:1.0	.	853;1361	E7ERW7;Q92608	.;DOCK2_HUMAN	Y	1361;853;422	ENSP00000256935:F1361Y;ENSP00000429283:F853Y;ENSP00000438827:F422Y	ENSP00000256935:F1361Y	F	+	2	0	DOCK2	169409848	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.040000	0.89188	2.060000	0.61445	0.533000	0.62120	TTC		0.507	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169477270	T	A	169477270	3	1	387	1	0	0	0	0	1	0	0	0	4689	1783	62	5	4244	5	DOCK2	5	169477270	Missense_Mutation	SNP	T	TCGA-BP-4973-01A-01D-1462-08	1379068	169477270	11437990	16	21473											
NEDD9	4739	hgsc.bcm.edu;ucsc.edu	37	6	11185683	11185684	+	Frame_Shift_Ins	INS	-	-	G	rs367878402		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr6:11185683_11185684insG	ENST00000379446.5	-	7	2382_2383	c.2216_2217insC	c.(2215-2217)ccgfs	p.P739fs	NEDD9_ENST00000504387.1_Frame_Shift_Ins_p.P739fs|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	739	Divergent helix-loop-helix motif.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CGAAGATTCGCGGGGGCTGGGC	0.525																																																0																																										SO:0001589	frameshift_variant	4739			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2217dupC	6.37:g.11185688_11185688dupG	ENSP00000368759:p.Pro739fs		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Frame_Shift_Ins	INS	ENST00000379446.5	37	CCDS4520.1																																																																																				0.525	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		G	11185684	-	G	11185683	7	5	387	1	0	1	1	0	0	0	0	0	10315	755	27	0	291	0	NEDD9	6	11185683	Frame_Shift_Ins	INS	-	TCGA-BP-4973-01A-01D-1462-08		11185683	159929384	17	21474											
HSP90AB1	3326	hgsc.bcm.edu;ucsc.edu	37	6	44219502	44219503	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr6:44219502_44219503insC	ENST00000371554.1	+	9	1557_1558	c.1343_1344insC	c.(1342-1347)cgccgcfs	p.R449fs	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000371646.5_Frame_Shift_Ins_p.R449fs|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000353801.3_Frame_Shift_Ins_p.R449fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	449					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.R448L(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCACTAACCGCCGCCGCCTGT	0.465																																																1	Substitution - Missense(1)	endometrium(1)																																								SO:0001589	frameshift_variant	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1345dupC	6.37:g.44219504_44219504dupC	ENSP00000360609:p.Arg449fs		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Ins	INS	ENST00000371554.1	37	CCDS4909.1																																																																																				0.465	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		C	44219503	-	C	44219502	7	5	387	1	0	1	1	0	0	0	0	0	7404	1087	38	0	1373	0	HSP90AB1	6	44219502	Frame_Shift_Ins	INS	-	TCGA-BP-4973-01A-01D-1462-08	33033819	44219502	126895565	18	21475											
TINAG	27283	hgsc.bcm.edu;ucsc.edu	37	6	54173613	54173614	+	Frame_Shift_Del	DEL	AG	AG	-	rs533842810	byFrequency	TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr6:54173613_54173614delAG	ENST00000259782.4	+	1	361_362	c.265_266delAG	c.(265-267)agafs	p.R89fs	TINAG_ENST00000370869.3_Frame_Shift_Del_p.R85fs|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Frame_Shift_Del_p.R71fs	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	89	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATTCTGTGACAGAGAAAATTCT	0.45														3	0.000599042	0.0	0.0	5008	,	,		19808	0.0		0.0	False		,,,				2504	0.0031															0																																										SO:0001589	frameshift_variant	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.265_266delAG	6.37:g.54173615_54173616delAG	ENSP00000259782:p.Arg89fs		Q5T467|Q9UJW1|Q9ULZ4	Frame_Shift_Del	DEL	ENST00000259782.4	37	CCDS4955.1																																																																																				0.45	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		-	54173614	AG	-	54173613	7	5	387	1	0	1	0	1	0	0	0	0	15926	180	7	0	267	0	TINAG	6	54173613	Frame_Shift_Del	DEL	AG	TCGA-BP-4973-01A-01D-1462-08	9954111	54173613	116941454	19	21476											
FLNC	2318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	128484237	128484237	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr7:128484237A>G	ENST00000325888.8	+	20	3370	c.3109A>G	c.(3109-3111)Aag>Gag	p.K1037E	FLNC_ENST00000346177.6_Missense_Mutation_p.K1037E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1037					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.K1037E(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGGCCCTACAAGGTGGATAT	0.662																																																1	Substitution - Missense(1)	kidney(1)											26	29	28					7																	128484237		2032	4186	6218	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3109A>G	7.37:g.128484237A>G	ENSP00000327145:p.Lys1037Glu		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	3.181	-0.167946	0.06461	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84873	-1.91;-1.91	4.85	4.85	0.62838	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.110564	0.64402	D	0.000013	T	0.75910	0.3914	L	0.31926	0.97	0.39783	D	0.972329	P;B	0.37015	0.578;0.384	B;B	0.41466	0.358;0.158	T	0.72717	-0.4209	10	0.02654	T	1	.	9.389	0.38361	0.9074:0.0:0.0926:0.0	.	1037;1037	Q14315-2;Q14315	.;FLNC_HUMAN	E	1037	ENSP00000327145:K1037E;ENSP00000344002:K1037E	ENSP00000327145:K1037E	K	+	1	0	FLNC	128271473	0.966000	0.33281	1.000000	0.80357	0.977000	0.68977	1.754000	0.38369	1.815000	0.52974	0.397000	0.26171	AAG		0.662	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			G	128484237	A	G	128484237	3	3	387	1	0	0	0	0	1	0	0	0	5937	131	5	3	3187	3	FLNC	7	128484237	Missense_Mutation	SNP	A	TCGA-BP-4973-01A-01D-1462-08		128484237	30654426	20	21477											
PABPC1	26986	hgsc.bcm.edu	37	8	101725327	101725327	+	Silent	SNP	T	T	C	rs62513927		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr8:101725327T>C	ENST00000318607.5	-	5	1854	c.726A>G	c.(724-726)gaA>gaG	p.E242E	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Silent_p.E197E|PABPC1_ENST00000522387.1_Silent_p.E210E	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	242	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TCTGTGCATCTTCATGCCTTT	0.373																																																0													77	69	71					8																	101725327		2203	4300	6503	SO:0001819	synonymous_variant	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.726A>G	8.37:g.101725327T>C			Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.303|9.303	1.053484|1.053484	0.19907|0.19907	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519100|ENST00000519596	.|.	.|.	.|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|.	.|.	.|.	.|.	T|T	0.70753|0.70753	0.3260|0.3260	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.70498|0.70498	-0.4855|-0.4855	4|4	.|.	.|.	.|.	.|.	14.9391|14.9391	0.70980|0.70980	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	rs62513927|rs62513927	.|.	.|.	.|.	R|G	111|75	.|.	.|.	K|R	-|-	2|1	0|2	PABPC1|PABPC1	101794503|101794503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.800000|2.800000	0.47900|0.47900	1.992000|1.992000	0.58205|0.58205	0.383000|0.383000	0.25322|0.25322	AAG|AGA		0.373	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		C	101725327	T	C	101725327	2	2	387	1	0	0	0	0	0	0	0	1	11365	1606	56	3		3	PABPC1	8	101725327	Silent	SNP	T	TCGA-BP-4973-01A-01D-1462-08		101725327	44638695	21	21478											
TNC	3371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	117825304	117825304	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr9:117825304G>A	ENST00000350763.4	-	13	4336	c.3925C>T	c.(3925-3927)Cgt>Tgt	p.R1309C	TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.R1309C|TNC_ENST00000542877.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1309	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.R1309C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCATGGAACGCAGGCTGCCA	0.592																																																1	Substitution - Missense(1)	kidney(1)											95	68	77					9																	117825304		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3925C>T	9.37:g.117825304G>A	ENSP00000265131:p.Arg1309Cys		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597622	0.28445	.	.	ENSG00000041982	ENST00000350763;ENST00000423613	T;T	0.04970	3.52;3.52	5.4	2.38	0.29361	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.997917	0.08118	N	0.995131	T	0.10766	0.0263	M	0.84326	2.69	0.20975	N	0.999816	B;B	0.28128	0.201;0.027	B;B	0.20184	0.028;0.018	T	0.28490	-1.0042	10	0.59425	D	0.04	.	5.6526	0.17625	0.1675:0.0:0.6764:0.1561	.	1309;1309	E9PC84;P24821	.;TENA_HUMAN	C	1309	ENSP00000265131:R1309C;ENSP00000411406:R1309C	ENSP00000265131:R1309C	R	-	1	0	TNC	116865125	0.000000	0.05858	0.183000	0.23137	0.862000	0.49288	0.367000	0.20382	0.754000	0.32968	0.655000	0.94253	CGT		0.592	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117825304	G	A	117825304	3	1	387	1	0	0	0	0	1	0	0	0	16275	1087	38	1	2744	1	TNC	9	117825304	Missense_Mutation	SNP	G	TCGA-BP-4973-01A-01D-1462-08		117825304	23388127	22	21479											
PNLIP	5406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	118321017	118321017	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr10:118321017T>A	ENST00000369221.2	+	12	1231	c.1203T>A	c.(1201-1203)aaT>aaA	p.N401K		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	401	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.N401K(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	CTCATTCCAATGAATTTGACT	0.348																																																2	Substitution - Missense(2)	kidney(2)											109	106	107					10																	118321017		2203	4300	6503	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1203T>A	10.37:g.118321017T>A	ENSP00000358223:p.Asn401Lys		Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429382	0.25726	.	.	ENSG00000175535	ENST00000369221	T	0.64803	-0.12	6.06	2.41	0.29592	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.357965	0.26844	N	0.022210	T	0.48572	0.1507	L	0.60904	1.88	0.32086	N	0.592474	B	0.15141	0.012	B	0.14578	0.011	T	0.42599	-0.9442	10	0.25106	T	0.35	.	1.4763	0.02427	0.1291:0.2123:0.1344:0.5242	.	401	P16233	LIPP_HUMAN	K	401	ENSP00000358223:N401K	ENSP00000358223:N401K	N	+	3	2	PNLIP	118311007	0.000000	0.05858	0.996000	0.52242	0.905000	0.53344	-0.125000	0.10579	0.157000	0.19338	0.533000	0.62120	AAT		0.348	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		A	118321017	T	A	118321017	3	1	387	1	0	0	0	0	1	0	0	0	12151	1461	51	5	1245	5	PNLIP	10	118321017	Missense_Mutation	SNP	T	TCGA-BP-4973-01A-01D-1462-08		118321017	17213730	23	21480											
PTPRJ	5795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	48166268	48166268	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr11:48166268G>T	ENST00000418331.2	+	13	2969	c.2617G>T	c.(2617-2619)Gat>Tat	p.D873Y		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	873	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.D873Y(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CACGTATGAGGATTTCAAAAA	0.398																																																2	Substitution - Missense(2)	kidney(2)											101	96	98					11																	48166268		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2617G>T	11.37:g.48166268G>T	ENSP00000400010:p.Asp873Tyr		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796676	0.50208	.	.	ENSG00000149177	ENST00000418331	T	0.20463	2.07	5.45	5.45	0.79879	Fibronectin, type III (2);	.	.	.	.	T	0.36082	0.0954	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.07309	-1.0779	9	0.72032	D	0.01	.	14.8032	0.69932	0.0:0.0:1.0:0.0	.	873	Q12913	PTPRJ_HUMAN	Y	873	ENSP00000400010:D873Y	ENSP00000400010:D873Y	D	+	1	0	PTPRJ	48122844	1.000000	0.71417	0.948000	0.38648	0.198000	0.23893	5.583000	0.67484	2.552000	0.86080	0.650000	0.86243	GAT		0.398	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			T	48166268	G	T	48166268	3	4	387	1	0	0	0	0	1	0	0	0	12810	1174	41	4	2676	4	PTPRJ	11	48166268	Missense_Mutation	SNP	G	TCGA-BP-4973-01A-01D-1462-08		48166268	86840248	24	21481											
HNRNPUL2	221092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62489317	62489317	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr11:62489317G>T	ENST00000301785.5	-	8	1649	c.1457C>A	c.(1456-1458)gCt>gAt	p.A486D	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.A486D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	486						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A486D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACAGTCTCAGCTCCCAGGAC	0.438																																																1	Substitution - Missense(1)	kidney(1)											222	220	221					11																	62489317		1880	4114	5994	SO:0001583	missense	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1457C>A	11.37:g.62489317G>T	ENSP00000301785:p.Ala486Asp		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006383	0.74932	.	.	ENSG00000214753	ENST00000301785	T	0.44482	0.92	5.31	5.31	0.75309	Zeta toxin domain (1);	0.057630	0.64402	D	0.000001	T	0.35595	0.0937	N	0.14661	0.345	0.40623	D	0.981782	P	0.42123	0.771	P	0.45474	0.482	T	0.34254	-0.9836	10	0.66056	D	0.02	-9.7107	16.5211	0.84317	0.0:0.0:1.0:0.0	.	486	Q1KMD3	HNRL2_HUMAN	D	486	ENSP00000301785:A486D	ENSP00000301785:A486D	A	-	2	0	HNRNPUL2	62245893	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.712000	0.68407	2.779000	0.95612	0.655000	0.94253	GCT		0.438	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		T	62489317	G	T	62489317	3	4	387	1	0	0	0	0	1	0	0	0	7277	971	34	4	814	4	HNRNPUL2	11	62489317	Missense_Mutation	SNP	G	TCGA-BP-4973-01A-01D-1462-08	14323049	62489317	72517199	25	21482											
NBEA	26960	broad.mit.edu;hgsc.bcm.edu	37	13	36220480	36220480	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr13:36220480C>T	ENST00000400445.3	+	50	8236	c.7702C>T	c.(7702-7704)Cac>Tac	p.H2568Y	NBEA_ENST00000379922.3_Missense_Mutation_p.H146Y|NBEA_ENST00000379939.2_Missense_Mutation_p.H2565Y|NBEA_ENST00000540320.1_Missense_Mutation_p.H2568Y|NBEA_ENST00000537702.1_Missense_Mutation_p.H361Y|NBEA_ENST00000310336.4_Missense_Mutation_p.H2568Y	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2568					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.H2568Y(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTCTGCCATGCACCTGGTAAG	0.433																																																1	Substitution - Missense(1)	kidney(1)											82	77	79					13																	36220480		2009	4174	6183	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7702C>T	13.37:g.36220480C>T	ENSP00000383295:p.His2568Tyr		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347237	0.82022	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.57907	0.66;0.66;0.66;0.66;0.48;0.37	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	L	0.47190	1.495	0.80722	D	1	B;P;B	0.39094	0.063;0.659;0.032	B;P;B	0.45998	0.023;0.5;0.006	T	0.56353	-0.7993	10	0.44086	T	0.13	.	19.1918	0.93669	0.0:1.0:0.0:0.0	.	2568;146;2565	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	Y	2568;2568;2565;2568;1195;146;361;146	ENSP00000440951:H2568Y;ENSP00000383295:H2568Y;ENSP00000369271:H2565Y;ENSP00000308534:H2568Y;ENSP00000440233:H361Y;ENSP00000369254:H146Y	ENSP00000308534:H2568Y	H	+	1	0	NBEA	35118480	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.731000	0.84895	2.609000	0.88269	0.563000	0.77884	CAC		0.433	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		T	36220480	C	T	36220480	3	4	387	1	0	0	0	0	1	0	0	0	10189	710	25	2	7900	2	NBEA	13	36220480	Missense_Mutation	SNP	C	TCGA-BP-4973-01A-01D-1462-08		36220480	78949398	26	21483											
CYFIP1	23191	hgsc.bcm.edu;ucsc.edu	37	15	22928433	22928434	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr15:22928433_22928434delAG	ENST00000313077.7	+	5	435_436	c.310_311delAG	c.(310-312)agafs	p.R104fs	CYFIP1_ENST00000560848.1_Frame_Shift_Del_p.R104fs	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGCCTAACAGAGTGGAAATC	0.465																																																0																																										SO:0001589	frameshift_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.310_311delAG	15.37:g.22928435_22928436delAG	ENSP00000324549:p.Arg104fs			Frame_Shift_Del	DEL	ENST00000313077.7	37	CCDS10009.1																																																																																				0.465	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		-	22928434	AG	-	22928433	7	5	387	1	0	1	0	1	0	0	0	0	4139	180	7	0	324	0	CYFIP1	15	22928433	Frame_Shift_Del	DEL	AG	TCGA-BP-4973-01A-01D-1462-08		22928433	79602959	27	21484											
SEMA6D	80031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48053615	48053615	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr15:48053615G>T	ENST00000316364.5	+	6	873	c.434G>T	c.(433-435)tGt>tTt	p.C145F	SEMA6D_ENST00000358066.4_Missense_Mutation_p.C145F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.C145F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.C145F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.C145F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.C145F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.C145F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.C145F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.C145F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.C145F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.C145F|SEMA6D_ENST00000389425.3_Missense_Mutation_p.C145F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	145	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.C145F(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AATCCCATGTGTAGATACTAC	0.343																																																2	Substitution - Missense(2)	kidney(2)											103	95	97					15																	48053615		2198	4297	6495	SO:0001583	missense	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.434G>T	15.37:g.48053615G>T	ENSP00000324857:p.Cys145Phe		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784102	0.70222	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	H	0.96691	3.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.85092	0.0952	10	0.87932	D	0	.	20.1634	0.98142	0.0:0.0:1.0:0.0	.	145;145;145;145;145	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	F	145	ENSP00000442040:C145F;ENSP00000446152:C145F;ENSP00000324857:C145F;ENSP00000374084:C145F;ENSP00000374083:C145F;ENSP00000346786:C145F;ENSP00000350770:C145F;ENSP00000374079:C145F;ENSP00000348276:C145F;ENSP00000374076:C145F	ENSP00000324857:C145F	C	+	2	0	SEMA6D	45840907	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.773000	0.95371	0.655000	0.94253	TGT		0.343	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		T	48053615	G	T	48053615	3	4	387	1	0	0	0	0	1	0	0	0	14048	1377	48	4	452	4	SEMA6D	15	48053615	Missense_Mutation	SNP	G	TCGA-BP-4973-01A-01D-1462-08	25125182	48053615	54477777	28	21485											
KIAA0556	23247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27715251	27715251	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr16:27715251G>T	ENST00000261588.4	+	12	1340	c.1321G>T	c.(1321-1323)Gtc>Ttc	p.V441F	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	441						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V441F(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCTCCAGGCCGTCGAAAGTGA	0.448																																																2	Substitution - Missense(2)	kidney(2)											105	104	104					16																	27715251		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1321G>T	16.37:g.27715251G>T	ENSP00000261588:p.Val441Phe		A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496771	0.44352	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.10960	2.82	5.93	1.2	0.21068	.	0.470480	0.23708	N	0.045346	T	0.07369	0.0186	N	0.22421	0.69	0.21897	N	0.999487	B;P	0.39157	0.216;0.662	B;B	0.37731	0.171;0.257	T	0.21109	-1.0255	10	0.59425	D	0.04	-5.313	9.297	0.37822	0.7166:0.0:0.2834:0.0	.	349;441	Q8N803;O60303	.;K0556_HUMAN	F	441;348	ENSP00000261588:V441F	ENSP00000261588:V441F	V	+	1	0	KIAA0556	27622752	0.009000	0.17119	0.225000	0.23894	0.733000	0.41908	0.314000	0.19432	-0.064000	0.13043	-0.367000	0.07326	GTC		0.448	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		T	27715251	G	T	27715251	3	4	387	1	0	0	0	0	1	0	0	0	8185	1145	40	4	1367	4	KIAA0556	16	27715251	Missense_Mutation	SNP	G	TCGA-BP-4973-01A-01D-1462-08		27715251	62639502	29	21486											
ATMIN	23300	hgsc.bcm.edu	37	16	81077767	81077774	+	Frame_Shift_Del	DEL	TAAATCAA	TAAATCAA	-			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	TAAATCAA	TAAATCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr16:81077767_81077774delTAAATCAA	ENST00000299575.4	+	4	1688_1695	c.1664_1671delTAAATCAA	c.(1663-1671)ttaaatcaafs	p.LNQ555fs	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Frame_Shift_Del_p.LNQ399fs|ATMIN_ENST00000566488.1_Frame_Shift_Del_p.LNQ399fs	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	555					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCTAAGACTTTAAATCAAGATATTGAGA	0.337																																																0																																										SO:0001589	frameshift_variant	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1664_1671delTAAATCAA	16.37:g.81077767_81077774delTAAATCAA	ENSP00000299575:p.Leu555fs		A8K4H8|Q68DC9	Frame_Shift_Del	DEL	ENST00000299575.4	37	CCDS32494.1																																																																																				0.337	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		-	81077774	TAAATCAA	-	81077767	7	5	387	1	0	1	0	1	0	0	0	0	1110	1764	61	0	1678	0	ATMIN	16	81077767	Frame_Shift_Del	DEL	TAAATCAA	TCGA-BP-4973-01A-01D-1462-08	53362516	81077767	9276986	30	21487											
KEAP1	9817	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10610395	10610395	+	Silent	SNP	A	A	G	rs377493095		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr19:10610395A>G	ENST00000171111.5	-	2	862	c.315T>C	c.(313-315)ccT>ccC	p.P105P	KEAP1_ENST00000393623.2_Silent_p.P105P|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	105	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.P105P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCTTGAAGACAGGGCTGGATG	0.602																																																1	Substitution - coding silent(1)	kidney(1)											83	68	73					19																	10610395		2203	4300	6503	SO:0001819	synonymous_variant	9817			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.315T>C	19.37:g.10610395A>G			B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	CCDS12239.1																																																																																				0.602	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		G	10610395	A	G	10610395	2	3	387	1	0	0	0	0	0	0	0	1	8143	175	7	3		3	KEAP1	19	10610395	Silent	SNP	A	TCGA-BP-4973-01A-01D-1462-08		10610395	48518588	31	21488											
ZNF223	7766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44570596	44570596	+	Silent	SNP	G	G	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr19:44570596G>A	ENST00000434772.3	+	5	870	c.615G>A	c.(613-615)aaG>aaA	p.K205K	ZNF223_ENST00000591793.1_Silent_p.K315K	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K205K(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AACTCTTTAAGTGTGACGTGT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											130	130	130					19																	44570596		2203	4300	6503	SO:0001819	synonymous_variant	7766			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.615G>A	19.37:g.44570596G>A			Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	CCDS12635.1																																																																																				0.428	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			A	44570596	G	A	44570596	2	1	387	1	0	0	0	0	0	0	0	1	17782	1020	36	2		2	ZNF223	19	44570596	Silent	SNP	G	TCGA-BP-4973-01A-01D-1462-08	33960201	44570596	14558387	32	21489											
HAS1	3036	broad.mit.edu	37	19	52216712	52216712	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr19:52216712G>A	ENST00000222115.1	-	5	1739	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	HAS1_ENST00000540069.2_Missense_Mutation_p.R568W|HAS1_ENST00000601714.1_Missense_Mutation_p.R576W	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	569					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R569W(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGGTCCGCCGCCGGCAAAGC	0.716																																					NSCLC(132;636 2450 45807 47979)											1	Substitution - Missense(1)	kidney(1)											10	12	11					19																	52216712		2154	4245	6399	SO:0001583	missense	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1705C>T	19.37:g.52216712G>A	ENSP00000222115:p.Arg569Trp		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	g	11.48	1.651785	0.29336	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.34275	1.37;1.37	2.71	0.384	0.16244	.	0.286062	0.30043	U	0.010557	T	0.43055	0.1230	L	0.41492	1.28	0.34906	D	0.746985	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.65773	0.938;0.867;0.867	T	0.53337	-0.8453	10	0.87932	D	0	-27.6516	8.5388	0.33379	0.0:0.0:0.3977:0.6023	.	568;569;568	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	W	568;569	ENSP00000445021:R568W;ENSP00000222115:R569W	ENSP00000222115:R569W	R	-	1	2	HAS1	56908524	0.996000	0.38824	0.990000	0.47175	0.445000	0.32107	2.122000	0.41987	0.185000	0.20105	0.174000	0.16983	CGG		0.716	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		A	52216712	G	A	52216712	3	1	387	1	0	0	0	0	1	0	0	0	6963	1086	38	1	35	1	HAS1	19	52216712	Missense_Mutation	SNP	G	TCGA-BP-4973-01A-01D-1462-08	7646116	52216712	6912271	33	21490											
PLXNB2	23654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50717397	50717397	+	Missense_Mutation	SNP	G	G	A	rs200623878		TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chr22:50717397G>A	ENST00000449103.1	-	28	4573	c.4433C>T	c.(4432-4434)cCg>cTg	p.P1478L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1478L			O15031	PLXB2_HUMAN	plexin B2	1478					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.P1521L(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACCTTCACCGGGATGGCGTC	0.622																																																1	Substitution - Missense(1)	kidney(1)						G	LEU/PRO	0,4400		0,0,2200	119	122	121		4433	3.2	0.1	22		121	2,8596	2.2+/-6.3	0,2,4297	yes	missense	PLXNB2	NM_012401.3	98	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1478/1839	50717397	2,12996	2200	4299	6499	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4433C>T	22.37:g.50717397G>A	ENSP00000409171:p.Pro1478Leu		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914294	0.33815	0.0	2.33E-4	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.11712	2.75;2.75	4.27	3.24	0.37175	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.32675	0.0837	M	0.81942	2.565	0.38254	D	0.941702	D	0.89917	1.0	D	0.71184	0.972	T	0.37619	-0.9698	10	0.52906	T	0.07	.	13.8862	0.63710	0.0:0.0:0.8462:0.1538	.	1478	O15031	PLXB2_HUMAN	L	1478;1478;110	ENSP00000409171:P1478L;ENSP00000352288:P1478L	ENSP00000352288:P1478L	P	-	2	0	PLXNB2	49059524	1.000000	0.71417	0.071000	0.20095	0.040000	0.13550	4.384000	0.59607	1.128000	0.42052	-0.493000	0.04662	CCG		0.622	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		A	50717397	G	A	50717397	3	1	387	1	0	0	0	0	1	0	0	0	12126	1116	39	1	1123	1	PLXNB2	22	50717397	Missense_Mutation	SNP	G	TCGA-BP-4973-01A-01D-1462-08		50717397	587169	34	21491											
BCORL1	63035	hgsc.bcm.edu	37	X	129189951	129189952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4973-01A-01D-1462-08	TCGA-BP-4973-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5db95dcc-97e3-42a5-87dd-75a09b9c164a	64a62b71-e48d-4e06-ab02-23f2b8a6c567	g.chrX:129189951_129189952insG	ENST00000218147.7	+	13	5173_5174	c.4976_4977insG	c.(4975-4980)caggtgfs	p.V1660fs	BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.V1530fs|BCORL1_ENST00000540052.1_Frame_Shift_Ins_p.V1660fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.V1734fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1660					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTCTACAGGCAGGTGGCCTCCA	0.609																																																0																																										SO:0001589	frameshift_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4978dupG	X.37:g.129189953_129189953dupG	ENSP00000218147:p.Val1660fs		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Ins	INS	ENST00000218147.7	37	CCDS14616.1																																																																																				0.609	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		G	129189952	-	G	129189951	7	5	387	1	0	1	1	0	0	0	0	0	1387	188	7	0	5248	0	BCORL1	23	129189951	Frame_Shift_Ins	INS	-	TCGA-BP-4973-01A-01D-1462-08		129189951	26080609	35	21492											
VHL	7428	hgsc.bcm.edu	37	3	10183776	10183776	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4974-01A-01D-1392-10	TCGA-BP-4974-11A-01D-1392-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	d82f43d1-a746-4ee6-a58b-3f0966072ae7	629d67a8-8738-427e-8276-926929e06641	g.chr3:10183776G>C	ENST00000256474.2	+	1	1085	c.245G>C	c.(244-246)cGc>cCc	p.R82P	VHL_ENST00000345392.2_Missense_Mutation_p.R82P|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	82			Missing (in VHLD).|R -> P (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R82P(4)|p.P81fs*49(2)|p.S72_V87>L(1)|p.R82fs*75(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.V83fs*48(1)|p.V74fs*77(1)|p.R82L(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCAGTCCGCGCGTCGTGCTG	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	13	Deletion - Frameshift(7)|Substitution - Missense(5)|Complex - deletion inframe(1)	kidney(12)|adrenal_gland(1)	GRCh37	CD941806|CM023994	VHL	D|M							12	15	14					3																	10183776		2160	4219	6379	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.245G>C	3.37:g.10183776G>C	ENSP00000256474:p.Arg82Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402333	0.96030	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99833	-7.03;-7.03	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.101946	0.64402	D	0.000001	D	0.99799	0.9914	M	0.80183	2.485	0.43787	D	0.996324	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97000	0.9728	10	0.72032	D	0.01	-8.5138	16.8166	0.85735	0.0:0.0:1.0:0.0	.	82;82	P40337-2;P40337	.;VHL_HUMAN	P	82	ENSP00000256474:R82P;ENSP00000344757:R82P	ENSP00000256474:R82P	R	+	2	0	VHL	10158776	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.961000	0.70356	2.558000	0.86282	0.550000	0.68814	CGC		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10183776	G	C	10183776	3	2	388	1	0	0	0	0	1	0	0	0	17167	1087	38	4	247	4	VHL	3	10183776	Missense_Mutation	SNP	G	TCGA-BP-4974-01A-01D-1392-10		10183776	187838654	1	21493											
FAM76A	199870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28060630	28060630	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr1:28060630C>T	ENST00000373954.6	+	4	392	c.290C>T	c.(289-291)cCa>cTa	p.P97L	FAM76A_ENST00000234549.7_Missense_Mutation_p.P131L|FAM76A_ENST00000419687.2_Intron|FAM76A_ENST00000010299.6_Missense_Mutation_p.P131L|FAM76A_ENST00000530324.1_Missense_Mutation_p.P97L|FAM76A_ENST00000373949.1_Missense_Mutation_p.P97L	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	97								p.P97L(1)		endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTATGGACCACCCTATTCT	0.383																																																1	Substitution - Missense(1)	kidney(1)											103	102	103					1																	28060630		2203	4300	6503	SO:0001583	missense	199870			AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.290C>T	1.37:g.28060630C>T	ENSP00000363065:p.Pro97Leu		B4DWT3|O95565|O95566|Q8N7J5	Missense_Mutation	SNP	ENST00000373954.6	37	CCDS309.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230164	0.58777	.	.	ENSG00000009780	ENST00000373954;ENST00000530324;ENST00000234549;ENST00000373949;ENST00000010299	T;T	0.33438	1.45;1.41	5.76	4.84	0.62591	.	0.088582	0.49916	D	0.000130	T	0.32585	0.0834	L	0.56769	1.78	0.80722	D	1	B;B;B;B;B	0.14438	0.001;0.001;0.004;0.01;0.002	B;B;B;B;B	0.22753	0.018;0.008;0.014;0.041;0.015	T	0.08576	-1.0715	10	0.51188	T	0.08	-21.6608	13.6801	0.62479	0.0:0.926:0.0:0.074	.	97;97;131;131;97	E9PQL1;Q8TAV0-2;Q8TAV0-4;Q8TAV0-3;Q8TAV0	.;.;.;.;FA76A_HUMAN	L	97;97;131;97;131	ENSP00000234549:P131L;ENSP00000010299:P131L	ENSP00000010299:P131L	P	+	2	0	FAM76A	27933217	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	4.056000	0.57448	2.880000	0.98712	0.650000	0.86243	CCA		0.383	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3	NM_152660		T	28060630	C	T	28060630	3	4	389	1	0	0	0	0	1	0	0	0	5626	594	21	2	410	2	FAM76A	1	28060630	Missense_Mutation	SNP	C	TCGA-BP-4974-01A-01D-1462-08		28060630	221189991	1	21494											
METTL13	51603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171753287	171753287	+	Silent	SNP	C	C	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr1:171753287C>T	ENST00000361735.3	+	2	827	c.561C>T	c.(559-561)gcC>gcT	p.A187A	METTL13_ENST00000362019.3_Silent_p.A101A|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000458517.1_Silent_p.A186A	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	187							methyltransferase activity (GO:0008168)	p.A187A(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						ACCAAGTGGCCAACAGCCAGG	0.587																																																1	Substitution - coding silent(1)	kidney(1)											57	61	59					1																	171753287		2203	4300	6503	SO:0001819	synonymous_variant	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.561C>T	1.37:g.171753287C>T			A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	CCDS1299.1																																																																																				0.587	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		T	171753287	C	T	171753287	2	4	389	1	0	0	0	0	0	0	0	1	9499	581	21	2		2	METTL13	1	171753287	Silent	SNP	C	TCGA-BP-4974-01A-01D-1462-08	143692657	171753287	77497334	2	21495											
METTL13	51603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171756896	171756896	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr1:171756896G>A	ENST00000361735.3	+	4	1401	c.1135G>A	c.(1135-1137)Ggg>Agg	p.G379R	METTL13_ENST00000362019.3_Missense_Mutation_p.G293R|METTL13_ENST00000367737.5_Missense_Mutation_p.G223R|METTL13_ENST00000458517.1_Missense_Mutation_p.G378R	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	379							methyltransferase activity (GO:0008168)	p.G379R(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GTCTGTGGGTGGGGACATTGG	0.498																																																1	Substitution - Missense(1)	kidney(1)											50	49	49					1																	171756896		2203	4300	6503	SO:0001583	missense	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1135G>A	1.37:g.171756896G>A	ENSP00000354920:p.Gly379Arg		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239315	0.79800	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.71	3.81	0.43845	.	0.153194	0.64402	D	0.000017	D	0.82628	0.5078	M	0.72894	2.215	0.46823	D	0.99921	D;D;D	0.89917	0.967;1.0;0.998	P;D;D	0.83275	0.632;0.996;0.937	D	0.84720	0.0739	10	0.62326	D	0.03	-10.6044	12.3214	0.54987	0.1415:0.0:0.8585:0.0	.	378;223;379	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	R	378;293;223;379	ENSP00000401955:G378R;ENSP00000355393:G293R;ENSP00000356711:G223R;ENSP00000354920:G379R	ENSP00000354920:G379R	G	+	1	0	METTL13	170023519	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	6.418000	0.73341	1.399000	0.46721	0.655000	0.94253	GGG		0.498	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		A	171756896	G	A	171756896	3	1	389	1	0	0	0	0	1	0	0	0	9499	1348	47	2	1149	2	METTL13	1	171756896	Missense_Mutation	SNP	G	TCGA-BP-4974-01A-01D-1462-08	3609	171756896	77493725	3	21496											
MARK1	4139	broad.mit.edu;hgsc.bcm.edu	37	1	220835248	220835248	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr1:220835248A>G	ENST00000366917.4	+	18	2394	c.2128A>G	c.(2128-2130)Agt>Ggt	p.S710G	MARK1_ENST00000402574.1_Missense_Mutation_p.S560G|MARK1_ENST00000366918.4_Missense_Mutation_p.S673G|RP11-322F10.2_ENST00000446040.1_RNA					MAP/microtubule affinity-regulating kinase 1									p.S710G(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAAGACCACTAGTTCAATGGA	0.398																																																1	Substitution - Missense(1)	kidney(1)											78	77	77					1																	220835248		2203	4300	6503	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2128A>G	1.37:g.220835248A>G	ENSP00000355884:p.Ser710Gly			Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406636	0.83230	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.55930	0.49;0.49;0.49	5.92	5.92	0.95590	Kinase-associated KA1 (2);	0.110772	0.64402	D	0.000004	T	0.77624	0.4158	M	0.88450	2.955	0.49798	D	0.999826	D;D;D;D	0.89917	1.0;0.969;0.999;1.0	D;D;D;D	0.91635	0.999;0.918;0.971;0.994	T	0.82210	-0.0570	10	0.87932	D	0	.	16.3782	0.83418	1.0:0.0:0.0:0.0	.	695;560;710;673	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	G	560;673;710	ENSP00000386017:S560G;ENSP00000355885:S673G;ENSP00000355884:S710G	ENSP00000355884:S710G	S	+	1	0	MARK1	218901871	1.000000	0.71417	0.639000	0.29394	0.997000	0.91878	7.059000	0.76684	2.277000	0.76020	0.528000	0.53228	AGT		0.398	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			G	220835248	A	G	220835248	3	3	389	1	0	0	0	0	1	0	0	0	9314	420	15	3	2198	3	MARK1	1	220835248	Missense_Mutation	SNP	A	TCGA-BP-4974-01A-01D-1462-08	49078352	220835248	28415373	4	21497											
HEATR1	55127	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	236766491	236766491	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr1:236766491C>T	ENST00000366582.3	-	3	442	c.328G>A	c.(328-330)Gca>Aca	p.A110T	HEATR1_ENST00000366579.1_Missense_Mutation_p.A110T|HEATR1_ENST00000366581.2_Missense_Mutation_p.A110T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	110					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.A110T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACTTCTGTGCTGGCTTAAGC	0.373																																																1	Substitution - Missense(1)	kidney(1)											135	121	126					1																	236766491		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.328G>A	1.37:g.236766491C>T	ENSP00000355541:p.Ala110Thr		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902291	0.92035	.	.	ENSG00000119285	ENST00000366582;ENST00000366581;ENST00000366579	T;T;T	0.52754	0.65;0.65;0.65	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.69424	0.3109	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71034	-0.4709	10	0.54805	T	0.06	.	18.9227	0.92532	0.0:1.0:0.0:0.0	.	110	Q9H583	HEAT1_HUMAN	T	110	ENSP00000355541:A110T;ENSP00000355540:A110T;ENSP00000355538:A110T	ENSP00000355538:A110T	A	-	1	0	HEATR1	234833114	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	7.484000	0.81180	2.475000	0.83589	0.563000	0.77884	GCA		0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		T	236766491	C	T	236766491	3	4	389	1	0	0	0	0	1	0	0	0	7029	797	28	2	6278	2	HEATR1	1	236766491	Missense_Mutation	SNP	C	TCGA-BP-4974-01A-01D-1462-08	15931243	236766491	12484130	5	21498											
REG3G	130120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	79255044	79255044	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr2:79255044C>A	ENST00000272324.5	+	5	629	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	REG3G_ENST00000393897.2_Missense_Mutation_p.L149M|REG3G_ENST00000409471.1_Missense_Mutation_p.L103M	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	149	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.L149M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGTGGGAGCCTGTCAAGAAG	0.483																																																1	Substitution - Missense(1)	kidney(1)											103	105	105					2																	79255044		2203	4300	6503	SO:0001583	missense	130120			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.445C>A	2.37:g.79255044C>A	ENSP00000272324:p.Leu149Met		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025627	0.54683	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.22336	1.96;1.96;2.12	4.73	1.86	0.25419	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.531540	0.15838	N	0.242182	T	0.38453	0.1041	L	0.52823	1.66	0.09310	N	1	D;P	0.71674	0.998;0.943	D;D	0.74674	0.984;0.937	T	0.18209	-1.0344	10	0.44086	T	0.13	.	12.7348	0.57216	0.0:0.5093:0.4907:0.0	.	103;149	Q3SYE6;Q6UW15	.;REG3G_HUMAN	M	149;149;103	ENSP00000377475:L149M;ENSP00000272324:L149M;ENSP00000387105:L103M	ENSP00000272324:L149M	L	+	1	2	REG3G	79108552	0.001000	0.12720	0.001000	0.08648	0.693000	0.40251	-0.439000	0.06897	0.287000	0.22375	0.650000	0.86243	CTG		0.483	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		A	79255044	C	A	79255044	3	1	389	1	0	0	0	0	1	0	0	0	13219	680	24	4	459	4	REG3G	2	79255044	Missense_Mutation	SNP	C	TCGA-BP-4974-01A-01D-1462-08		79255044	163944329	6	21499											
SLC11A1	6556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219254723	219254723	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr2:219254723C>A	ENST00000233202.6	+	9	1266	c.926C>A	c.(925-927)gCc>gAc	p.A309D	SLC11A1_ENST00000539932.1_Missense_Mutation_p.A191D	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	309					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)	p.A309D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGGGCAGGCCTTCTACCAG	0.542																																																1	Substitution - Missense(1)	kidney(1)											165	128	141					2																	219254723		2203	4300	6503	SO:0001583	missense	6556			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.926C>A	2.37:g.219254723C>A	ENSP00000233202:p.Ala309Asp		C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288524	0.80914	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.72394	-0.65;-0.65	5.1	5.1	0.69264	.	0.069495	0.64402	D	0.000014	T	0.76343	0.3974	M	0.70787	2.145	0.58432	D	0.999999	B;B;B	0.31318	0.045;0.319;0.18	B;B;B	0.39935	0.178;0.314;0.178	T	0.77310	-0.2635	10	0.59425	D	0.04	-28.5017	18.704	0.91631	0.0:1.0:0.0:0.0	.	309;191;309	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	D	309;191	ENSP00000233202:A309D;ENSP00000443435:A191D	ENSP00000233202:A309D	A	+	2	0	SLC11A1	218962967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.472000	0.60189	2.650000	0.89964	0.561000	0.74099	GCC		0.542	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		A	219254723	C	A	219254723	3	1	389	1	0	0	0	0	1	0	0	0	14386	739	26	4	960	4	SLC11A1	2	219254723	Missense_Mutation	SNP	C	TCGA-BP-4974-01A-01D-1462-08	139999679	219254723	23944650	7	21500											
CRELD1	78987	broad.mit.edu;hgsc.bcm.edu	37	3	9982650	9982650	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr3:9982650G>A	ENST00000383811.3	+	5	1176	c.577G>A	c.(577-579)Ggc>Agc	p.G193S	CRELD1_ENST00000326434.5_Missense_Mutation_p.G193S|CRELD1_ENST00000452070.1_Missense_Mutation_p.G193S|CRELD1_ENST00000397170.3_Missense_Mutation_p.G193S	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	193	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.G193S(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TGAGGCCTGTGGCCAGTGTGG	0.637																																																2	Substitution - Missense(2)	kidney(2)											61	63	62					3																	9982650		2203	4300	6503	SO:0001583	missense	78987			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.577G>A	3.37:g.9982650G>A	ENSP00000373322:p.Gly193Ser		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944786	0.18356	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.60920	0.27;0.27;0.27;0.15	5.33	4.46	0.54185	EGF-like, laminin (1);Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.426939	0.25636	N	0.029309	T	0.21347	0.0514	N	0.01048	-1.04	0.29752	N	0.836289	B;B	0.33940	0.011;0.433	B;B	0.26310	0.009;0.068	T	0.13308	-1.0514	9	.	.	.	.	8.0264	0.30440	0.1831:0.0:0.8169:0.0	.	193;193	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	S	193	ENSP00000380355:G193S;ENSP00000373322:G193S;ENSP00000393643:G193S;ENSP00000321856:G193S	.	G	+	1	0	CRELD1	9957650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.996000	0.40776	1.249000	0.43950	0.561000	0.74099	GGC		0.637	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		A	9982650	G	A	9982650	3	1	389	1	0	0	0	0	1	0	0	0	3868	1348	47	2	595	2	CRELD1	3	9982650	Missense_Mutation	SNP	G	TCGA-BP-4974-01A-01D-1462-08		9982650	188039780	8	21501											
ACAP2	23527	hgsc.bcm.edu;ucsc.edu	37	3	195016613	195016613	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr3:195016613T>G	ENST00000326793.6	-	17	1726	c.1496A>C	c.(1495-1497)aAg>aCg	p.K499T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	499	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K499T(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ATATGCCTCCTTCTCCTGTCT	0.343																																																1	Substitution - Missense(1)	kidney(1)											74	74	74					3																	195016613		2203	4300	6503	SO:0001583	missense	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1496A>C	3.37:g.195016613T>G	ENSP00000324287:p.Lys499Thr		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.75|16.75	3.210184|3.210184	0.58343|0.58343	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000450200|ENST00000326793	T|T	0.43688|0.43688	0.94|0.94	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.252428	.|0.46442	.|D	.|0.000287	T|T	0.69424|0.69424	0.3109|0.3109	M|M	0.90922|0.90922	3.16|3.16	0.39948|0.39948	D|D	0.974496|0.974496	.|D	.|0.63046	.|0.992	.|P	.|0.62560	.|0.904	T|T	0.78866|0.78866	-0.2035|-0.2035	7|10	0.15952|0.87932	T|D	0.53|0	.|.	15.0777|15.0777	0.72090|0.72090	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|499	.|Q15057	.|ACAP2_HUMAN	D|T	57|499	ENSP00000412338:E57D|ENSP00000324287:K499T	ENSP00000412338:E57D|ENSP00000324287:K499T	E|K	-|-	3|2	2|0	ACAP2|ACAP2	196497902|196497902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	4.586000|4.586000	0.60984|0.60984	2.163000|2.163000	0.67991|0.67991	0.460000|0.460000	0.39030|0.39030	GAA|AAG		0.343	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		G	195016613	T	G	195016613	3	3	389	1	0	0	0	0	1	0	0	0	119	1609	56	5	868	5	ACAP2	3	195016613	Missense_Mutation	SNP	T	TCGA-BP-4974-01A-01D-1462-08	185033963	195016613	3005817	9	21502											
KLHL8	57563	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	88106697	88106697	+	Silent	SNP	A	A	G			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr4:88106697A>G	ENST00000273963.5	-	3	812	c.471T>C	c.(469-471)tgT>tgC	p.C157C	KLHL8_ENST00000498875.2_Silent_p.C81C|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Silent_p.C157C|KLHL8_ENST00000425278.2_Intron	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	157					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.C157C(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TCATGTATTCACAACAAGCTC	0.438																																																1	Substitution - coding silent(1)	kidney(1)											110	107	108					4																	88106697		2203	4300	6503	SO:0001819	synonymous_variant	57563			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.471T>C	4.37:g.88106697A>G			Q53XA3|Q6N018	Silent	SNP	ENST00000273963.5	37	CCDS3617.1																																																																																				0.438	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			G	88106697	A	G	88106697	2	3	389	1	0	0	0	0	0	0	0	1	8397	157	6	3		3	KLHL8	4	88106697	Silent	SNP	A	TCGA-BP-4974-01A-01D-1462-08		88106697	103047579	10	21503											
UCP1	7350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	141484270	141484270	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr4:141484270A>T	ENST00000262999.3	-	4	697	c.622T>A	c.(622-624)Tta>Ata	p.L208I		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	208					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)	p.L208I(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					TTACCTGCTAATATGTTGTTT	0.403																																																1	Substitution - Missense(1)	kidney(1)											129	129	129					4																	141484270		2203	4300	6503	SO:0001583	missense	7350			X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"Solute carriers"	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.622T>A	4.37:g.141484270A>T	ENSP00000262999:p.Leu208Ile		Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256799	0.22965	.	.	ENSG00000109424	ENST00000262999	T	0.77620	-1.11	5.22	1.27	0.21489	Mitochondrial carrier domain (2);	0.157271	0.44097	D	0.000485	T	0.79112	0.4391	L	0.52364	1.645	0.20638	N	0.99988	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.66240	-0.5973	10	0.39692	T	0.17	.	3.3858	0.07270	0.2725:0.0:0.4311:0.2964	.	207;208	Q4KMT7;P25874	.;UCP1_HUMAN	I	208	ENSP00000262999:L208I	ENSP00000262999:L208I	L	-	1	2	UCP1	141703720	0.304000	0.24472	0.061000	0.19648	0.034000	0.12701	0.157000	0.16402	-0.007000	0.14345	-1.172000	0.01736	TTA		0.403	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			T	141484270	A	T	141484270	3	4	389	1	0	0	0	0	1	0	0	0	16935	98	4	5	311	5	UCP1	4	141484270	Missense_Mutation	SNP	A	TCGA-BP-4974-01A-01D-1462-08	53377573	141484270	49670006	11	21504											
LMAN2	10960	broad.mit.edu	37	5	176778599	176778599	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr5:176778599A>G	ENST00000303127.7	-	1	254	c.50T>C	c.(49-51)cTg>cCg	p.L17P	LMAN2_ENST00000515209.1_Missense_Mutation_p.L17P|LMAN2_ENST00000506310.1_5'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	17					positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.L17P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCTTCCCAGGCACCGCCG	0.637																																																1	Substitution - Missense(1)	kidney(1)											23	28	27					5																	176778599		2203	4300	6503	SO:0001583	missense	10960			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"chromosome 5 open reading frame 8"	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.50T>C	5.37:g.176778599A>G	ENSP00000303366:p.Leu17Pro		Q53HH1	Missense_Mutation	SNP	ENST00000303127.7	37	CCDS4417.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055702	0.36277	.	.	ENSG00000169223	ENST00000303127;ENST00000515209;ENST00000514458;ENST00000502560	T;T;T;T	0.65732	-0.12;-0.14;-0.17;-0.11	5.25	-1.46	0.08800	.	0.617589	0.16667	N	0.204546	T	0.33177	0.0854	N	0.08118	0	0.32902	D	0.513276	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13361	-1.0512	10	0.29301	T	0.29	-4.9463	5.9228	0.19093	0.3324:0.0:0.5452:0.1224	.	17;17	Q12907;D6RBV2	LMAN2_HUMAN;.	P	17	ENSP00000303366:L17P;ENSP00000423998:L17P;ENSP00000424132:L17P;ENSP00000425229:L17P	ENSP00000303366:L17P	L	-	2	0	LMAN2	176711205	0.318000	0.24598	0.924000	0.36721	0.961000	0.63080	-0.345000	0.07770	-0.152000	0.11156	-0.269000	0.10298	CTG		0.637	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816		G	176778599	A	G	176778599	3	3	389	1	0	0	0	0	1	0	0	0	8840	188	7	3	1052	3	LMAN2	5	176778599	Missense_Mutation	SNP	A	TCGA-BP-4974-01A-01D-1462-08		176778599	4136661	12	21505											
GABRR1	2569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	89891701	89891701	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr6:89891701G>T	ENST00000454853.2	-	8	982	c.872C>A	c.(871-873)cCc>cAc	p.P291H	GABRR1_ENST00000369451.3_Missense_Mutation_p.P204H|GABRR1_ENST00000435811.1_Missense_Mutation_p.P274H	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	291					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P285H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CAGGGTAGCGGGGAAATAAGT	0.512																																																1	Substitution - Missense(1)	kidney(1)											171	155	160					6																	89891701		2203	4300	6503	SO:0001583	missense	2569				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.872C>A	6.37:g.89891701G>T	ENSP00000412673:p.Pro291His		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889442	0.91889	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.99382	-5.8;-5.8;-5.8	5.28	5.28	0.74379	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96917	0.9671	9	.	.	.	-13.7572	18.9265	0.92548	0.0:0.0:1.0:0.0	.	274;291	P24046-2;P24046	.;GBRR1_HUMAN	H	291;274;204;204	ENSP00000412673:P291H;ENSP00000394687:P274H;ENSP00000358463:P204H	.	P	-	2	0	GABRR1	89948420	1.000000	0.71417	0.946000	0.38457	0.862000	0.49288	9.869000	0.99810	2.463000	0.83235	0.563000	0.77884	CCC		0.512	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			T	89891701	G	T	89891701	3	4	389	1	0	0	0	0	1	0	0	0	6178	1232	43	4	579	4	GABRR1	6	89891701	Missense_Mutation	SNP	G	TCGA-BP-4974-01A-01D-1462-08		89891701	81223366	13	21506											
C6orf182	285753	broad.mit.edu;hgsc.bcm.edu	37	6	109484145	109484145	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr6:109484145G>T	ENST00000517392.1	+	11	1781	c.1355G>T	c.(1354-1356)aGa>aTa	p.R452I	CEP57L1_ENST00000520883.1_Missense_Mutation_p.R352I|CEP57L1_ENST00000407272.1_Missense_Mutation_p.R452I|CEP57L1_ENST00000521522.1_Missense_Mutation_p.R399I|CEP57L1_ENST00000368970.2_Missense_Mutation_p.R469I|CEP57L1_ENST00000336977.4_Missense_Mutation_p.R352I|C6orf183_ENST00000417143.3_RNA|CEP57L1_ENST00000368968.2_3'UTR|CEP57L1_ENST00000359793.3_Missense_Mutation_p.R452I|CEP57L1_ENST00000523787.1_Missense_Mutation_p.R455I	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	452					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R452I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						ATGAAATTGAGAAGAGATGAT	0.333																																																1	Substitution - Missense(1)	kidney(1)											56	57	57					6																	109484145		2203	4300	6503	SO:0001583	missense	285753			AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 182"	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1355G>T	6.37:g.109484145G>T	ENSP00000427844:p.Arg452Ile		G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327299	0.81690	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000336977;ENST00000521522;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793	T;T;T;T;T;T;T;T	0.55052	0.62;0.62;0.58;0.54;0.66;0.58;0.62;0.62	5.68	5.68	0.88126	.	0.273372	0.36482	N	0.002568	T	0.39682	0.1087	M	0.61703	1.905	0.58432	D	0.999991	P	0.52316	0.952	B	0.41988	0.372	T	0.51568	-0.8689	10	0.87932	D	0	-8.2543	11.0829	0.48070	0.0848:0.0:0.9152:0.0	.	452	Q8IYX8	CE57L_HUMAN	I	452;452;352;399;469;352;455;452	ENSP00000427844:R452I;ENSP00000383936:R452I;ENSP00000337392:R352I;ENSP00000428344:R399I;ENSP00000357966:R469I;ENSP00000430011:R352I;ENSP00000430529:R455I;ENSP00000352841:R452I	ENSP00000337392:R352I	R	+	2	0	CEP57L1	109590838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.884000	0.56175	2.838000	0.97847	0.591000	0.81541	AGA		0.333	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		T	109484145	G	T	109484145	3	4	389	1	0	0	0	0	1	0	0	0	2348	942	33	4	1393	4	C6orf182	6	109484145	Missense_Mutation	SNP	G	TCGA-BP-4974-01A-01D-1462-08	19592444	109484145	61630922	14	21507											
MAP3K5	4217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	136972151	136972151	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr6:136972151A>C	ENST00000359015.4	-	11	2119	c.1759T>G	c.(1759-1761)Tct>Gct	p.S587A	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	587					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.S587A(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGCCAAATAGAGATTGTCTTT	0.348																																																1	Substitution - Missense(1)	kidney(1)											146	122	130					6																	136972151		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1759T>G	6.37:g.136972151A>C	ENSP00000351908:p.Ser587Ala		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391135	0.82902	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.69561	-0.41	4.73	4.73	0.59995	.	0.052521	0.85682	D	0.000000	T	0.71837	0.3387	M	0.72576	2.205	0.80722	D	1	P;P	0.52842	0.768;0.956	B;D	0.65010	0.222;0.931	T	0.70641	-0.4816	10	0.27082	T	0.32	.	14.5483	0.68047	1.0:0.0:0.0:0.0	.	667;587	Q59GL6;Q99683	.;M3K5_HUMAN	A	587;667	ENSP00000351908:S587A	ENSP00000351908:S587A	S	-	1	0	MAP3K5	137013844	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	8.648000	0.91062	1.889000	0.54706	0.528000	0.53228	TCT		0.348	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			C	136972151	A	C	136972151	3	2	389	1	0	0	0	0	1	0	0	0	9255	304	11	5	2445	5	MAP3K5	6	136972151	Missense_Mutation	SNP	A	TCGA-BP-4974-01A-01D-1462-08	27488006	136972151	34142916	15	21508											
PRKDC	5591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	48767813	48767813	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr8:48767813C>T	ENST00000314191.2	-	51	6784	c.6728G>A	c.(6727-6729)tGc>tAc	p.C2243Y	PRKDC_ENST00000338368.3_Missense_Mutation_p.C2243Y|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2244					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.C2244Y(1)|p.C2243Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCCTTCCAGCACTCGACAAG	0.333								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											2	Substitution - Missense(2)	kidney(2)											75	68	70					8																	48767813		1830	4084	5914	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6728G>A	8.37:g.48767813C>T	ENSP00000313420:p.Cys2243Tyr		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.017492	0.75161	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64260	-0.09;-0.09	5.06	5.06	0.68205	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.979	T	0.83231	-0.0063	10	0.72032	D	0.01	.	17.771	0.88493	0.0:1.0:0.0:0.0	.	2243;2244	E7EUY0;P78527	.;PRKDC_HUMAN	Y	2243	ENSP00000313420:C2243Y;ENSP00000345182:C2243Y	ENSP00000313420:C2243Y	C	-	2	0	PRKDC	48930366	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.445000	0.80570	2.521000	0.84997	0.650000	0.86243	TGC		0.333	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		T	48767813	C	T	48767813	3	4	389	1	0	0	0	0	1	0	0	0	12526	710	25	2	5803	2	PRKDC	8	48767813	Missense_Mutation	SNP	C	TCGA-BP-4974-01A-01D-1462-08		48767813	97596209	16	21509											
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110412378	110412378	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr8:110412378T>A	ENST00000378402.5	+	13	1190	c.1086T>A	c.(1084-1086)aaT>aaA	p.N362K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	362					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.N364K(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGAATACAATGAAAAAACGC	0.418										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	kidney(1)											242	238	239					8																	110412378		1863	4102	5965	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1086T>A	8.37:g.110412378T>A	ENSP00000367655:p.Asn362Lys		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534533	0.27475	.	.	ENSG00000205038	ENST00000378402	D	0.86497	-2.13	5.32	1.06	0.20224	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.128382	0.49305	D	0.000147	T	0.79747	0.4499	L	0.50333	1.59	0.29809	N	0.831824	P	0.40731	0.728	B	0.34590	0.186	T	0.75414	-0.3326	10	0.66056	D	0.02	.	8.8333	0.35098	0.0:0.2739:0.0:0.7261	.	362	Q86WI1	PKHL1_HUMAN	K	362	ENSP00000367655:N362K	ENSP00000367655:N362K	N	+	3	2	PKHD1L1	110481554	0.980000	0.34600	0.586000	0.28679	0.137000	0.21094	0.158000	0.16422	0.300000	0.22699	0.460000	0.39030	AAT		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110412378	T	A	110412378	3	1	389	1	0	0	0	0	1	0	0	0	11974	1461	51	5	1136	5	PKHD1L1	8	110412378	Missense_Mutation	SNP	T	TCGA-BP-4974-01A-01D-1462-08	61644565	110412378	35951644	17	21510											
YEATS4	8089	broad.mit.edu	37	12	69756582	69756582	+	Silent	SNP	T	T	G			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr12:69756582T>G	ENST00000247843.2	+	2	336	c.66T>G	c.(64-66)gtT>gtG	p.V22V	YEATS4_ENST00000548020.1_Silent_p.V22V	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	22	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)	p.V22V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TTACTATCGTTAAACCAATAG	0.313																																																1	Substitution - coding silent(1)	kidney(1)											87	86	87					12																	69756582		2203	4300	6503	SO:0001819	synonymous_variant	8089			AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.66T>G	12.37:g.69756582T>G			Q9NQD0	Silent	SNP	ENST00000247843.2	37	CCDS8990.1																																																																																				0.313	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530		G	69756582	T	G	69756582	2	3	389	1	0	0	0	0	0	0	0	1	17478	1741	61	5		5	YEATS4	12	69756582	Silent	SNP	T	TCGA-BP-4974-01A-01D-1462-08		69756582	64095313	18	21511											
ANKS1B	56899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	99194855	99194855	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr12:99194855C>T	ENST00000547776.2	-	20	3114	c.3115G>A	c.(3115-3117)Gcc>Acc	p.A1039T	ANKS1B_ENST00000549493.2_Missense_Mutation_p.A289T|ANKS1B_ENST00000546960.1_Missense_Mutation_p.A265T|ANKS1B_ENST00000550693.2_Missense_Mutation_p.A229T|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A1039T|ANKS1B_ENST00000341752.7_Missense_Mutation_p.A45T|ANKS1B_ENST00000547010.1_Missense_Mutation_p.A555T|ANKS1B_ENST00000549025.2_Missense_Mutation_p.A137T|ANKS1B_ENST00000547446.1_Missense_Mutation_p.A174T|ANKS1B_ENST00000549558.2_Missense_Mutation_p.A205T|ANKS1B_ENST00000546568.1_Missense_Mutation_p.A205T|ANKS1B_ENST00000333732.7_Missense_Mutation_p.A69T|ANKS1B_ENST00000332712.7_Missense_Mutation_p.A229T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1039						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.A1039T(1)|p.A289T(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAGGCTGTGGCTTCATTCGGA	0.453																																																2	Substitution - Missense(2)	kidney(2)											73	76	75					12																	99194855		1940	4139	6079	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3115G>A	12.37:g.99194855C>T	ENSP00000449629:p.Ala1039Thr		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210886	0.79240	.	.	ENSG00000185046	ENST00000341752;ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960	T;T;T;T;T;T;T;T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000007	T	0.26268	0.0641	L	0.38175	1.15	0.48632	D	0.999682	B;B;B;P;P;B;P;B;P;P;P;D;B	0.69078	0.089;0.018;0.01;0.562;0.708;0.193;0.562;0.371;0.708;0.917;0.562;0.997;0.328	B;B;B;B;B;B;B;B;B;P;B;D;B	0.77004	0.062;0.023;0.01;0.413;0.269;0.079;0.316;0.141;0.269;0.615;0.439;0.989;0.155	T	0.00324	-1.1817	10	0.46703	T	0.11	-8.022	12.7742	0.57437	0.0:0.9247:0.0:0.0753	.	174;69;69;265;229;179;253;205;289;137;555;1039;205	F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-4;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.;.;.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	T	45;205;1039;555;1039;554;229;137;289;174;69;205;229;130;265	ENSP00000345510:A45T;ENSP00000448993:A205T;ENSP00000449629:A1039T;ENSP00000448512:A555T;ENSP00000331381:A1039T;ENSP00000447999:A229T;ENSP00000447312:A137T;ENSP00000448203:A289T;ENSP00000450015:A174T;ENSP00000331256:A69T;ENSP00000448205:A205T;ENSP00000332683:A229T;ENSP00000447839:A265T	ENSP00000331381:A1039T	A	-	1	0	ANKS1B	97718986	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.742000	0.68646	2.657000	0.90304	0.655000	0.94253	GCC		0.453	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		T	99194855	C	T	99194855	3	4	389	1	0	0	0	0	1	0	0	0	689	797	28	2	774	2	ANKS1B	12	99194855	Missense_Mutation	SNP	C	TCGA-BP-4974-01A-01D-1462-08	29438273	99194855	34657040	19	21512											
RYR3	6263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	33873752	33873752	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr15:33873752T>C	ENST00000389232.4	+	14	1551	c.1481T>C	c.(1480-1482)gTc>gCc	p.V494A	RYR3_ENST00000415757.3_Missense_Mutation_p.V494A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	494			V -> I (in dbSNP:rs2077268). {ECO:0000269|PubMed:9515741}.		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)	p.V494A(1)		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)		CGCTTAAATGTCTACAATAGC	0.443																																																1	Substitution - Missense(1)	kidney(1)											139	139	139					15																	33873752		1918	4145	6063	SO:0001583	missense	6263				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.1481T>C	15.37:g.33873752T>C	ENSP00000373884:p.Val494Ala		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924323	0.52653	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95171	-3.63;-3.63	5.41	5.41	0.78517	Intracellular calcium-release channel (1);	0.353051	0.25383	N	0.031074	D	0.92609	0.7652	M	0.70275	2.135	0.25085	N	0.990895	B;B	0.20164	0.042;0.01	B;B	0.21151	0.033;0.023	T	0.83349	-0.0004	10	0.25106	T	0.35	.	11.2782	0.49178	0.1446:0.0:0.0:0.8554	.	494;494	Q15413-2;Q15413	.;RYR3_HUMAN	A	494	ENSP00000373884:V494A;ENSP00000399610:V494A	ENSP00000354735:V494A	V	+	2	0	RYR3	31661044	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	5.007000	0.63984	2.051000	0.60960	0.460000	0.39030	GTC		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			C	33873752	T	C	33873752	3	2	389	1	0	0	0	0	1	0	0	0	13776	1667	58	3	1535	3	RYR3	15	33873752	Missense_Mutation	SNP	T	TCGA-BP-4974-01A-01D-1462-08		33873752	68657640	20	21513											
DHX33	56919	broad.mit.edu	37	17	5372140	5372140	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr17:5372140G>A	ENST00000225296.3	-	1	240	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	CTC-524C5.5_ENST00000571506.1_lincRNA|DHX33_ENST00000433302.3_Missense_Mutation_p.R14W	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	14					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.R14W(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGCCTGGCCGGAATCTCTTG	0.731																																																1	Substitution - Missense(1)	kidney(1)											4	6	5					17																	5372140		2096	4153	6249	SO:0001583	missense	56919			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.40C>T	17.37:g.5372140G>A	ENSP00000225296:p.Arg14Trp		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577137	0.86645	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.28255	1.62;1.62	4.96	2.92	0.33932	.	0.143578	0.47852	D	0.000211	T	0.19685	0.0473	N	0.19112	0.55	0.23162	N	0.998198	D;D	0.64830	0.994;0.975	P;B	0.44477	0.451;0.333	T	0.08006	-1.0743	10	0.66056	D	0.02	.	7.0017	0.24813	0.0895:0.0:0.7389:0.1716	.	14;14	Q05BE5;Q9H6R0	.;DHX33_HUMAN	W	14	ENSP00000225296:R14W;ENSP00000413779:R14W	ENSP00000225296:R14W	R	-	1	2	DHX33	5312864	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	2.147000	0.42226	0.642000	0.30620	0.462000	0.41574	CGG		0.731	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		A	5372140	G	A	5372140	3	1	389	1	0	0	0	0	1	0	0	0	4508	1115	39	1	2131	1	DHX33	17	5372140	Missense_Mutation	SNP	G	TCGA-BP-4974-01A-01D-1462-08		5372140	75823070	21	21514											
FAM83G	644815	hgsc.bcm.edu	37	17	18874924	18874925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr17:18874924_18874925insC	ENST00000388995.6	-	6	2442_2443	c.2219_2220insG	c.(2218-2220)ggcfs	p.G740fs	FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.G740fs|FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.G740fs|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	740					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGTGGTGGGGGCCAGCCATGGC	0.653																																																0																																										SO:0001589	frameshift_variant	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2220dupG	17.37:g.18874926_18874926dupC	ENSP00000373647:p.Gly740fs		Q3KQZ4|Q6ZW60	Frame_Shift_Ins	INS	ENST00000388995.6	37	CCDS42276.1																																																																																				0.653	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			C	18874925	-	C	18874924	7	5	389	1	0	1	1	0	0	0	0	0	5641	1190	42	0	255	0	FAM83G	17	18874924	Frame_Shift_Ins	INS	-	TCGA-BP-4974-01A-01D-1462-08	13502784	18874924	62320286	22	21515											
MED1	5469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37565879	37565879	+	Silent	SNP	G	G	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr17:37565879G>A	ENST00000300651.6	-	17	2818	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.F865F(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AATCAGGATTGAAATCTACTC	0.393										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)											1	Substitution - coding silent(1)	kidney(1)											77	80	79					17																	37565879		2203	4298	6501	SO:0001819	synonymous_variant	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2595C>T	17.37:g.37565879G>A			B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	CCDS11336.1																																																																																				0.393	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		A	37565879	G	A	37565879	2	1	389	1	0	0	0	0	0	0	0	1	9427	1281	45	2		2	MED1	17	37565879	Silent	SNP	G	TCGA-BP-4974-01A-01D-1462-08	18690955	37565879	43629331	23	21516											
ZNF320	162967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53385021	53385022	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr19:53385021_53385022TC>CA	ENST00000595635.1	-	8	858_859	c.357_358GA>TG	c.(355-360)ttGAct>ttTGct	p.119_120LT>FA	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.119_120LT>FA	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L119F(1)|p.T120A(1)|p.L119_T120>FA(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTACTACTAGTCAACTTTTTTA	0.391																																																3	Substitution - Missense(2)|Complex - compound substitution(1)	kidney(3)																																								SO:0001583	missense	162967			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.357_358delinsCA	19.37:g.53385021_53385022delinsCA	ENSP00000473091:p.L119_T120delinsFA		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	CCDS33095.1																																																																																				0.391	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		CA	53385022	TC	CA	53385021	3	2	389	1	0	0	0	0	1	0	0	0	17844	1667	58	3	1175	3	ZNF320	19	53385021	Missense_Mutation	DNP	TC	TCGA-BP-4974-01A-01D-1462-08		53385021	5743962	24	21517											
RFPL1	5988	hgsc.bcm.edu	37	22	29834853	29834853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chr22:29834853delC	ENST00000354373.2	+	1	282	c.73delC	c.(73-75)cccfs	p.P25fs	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	25							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GTGCACTTTTCCCCTGGCAGT	0.488																																																0													100	96	98					22																	29834853		2203	4300	6503	SO:0001589	frameshift_variant	5988			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.73delC	22.37:g.29834853delC	ENSP00000346342:p.Pro25fs		Q6IC06|Q9UJ97	Frame_Shift_Del	DEL	ENST00000354373.2	37	CCDS13857.2																																																																																				0.488	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		-	29834853	C	-	29834853	7	5	389	1	0	1	0	1	0	0	0	0	13259	855	30	0	75	0	RFPL1	22	29834853	Frame_Shift_Del	DEL	C	TCGA-BP-4974-01A-01D-1462-08		29834853	21469713	25	21518											
POLA1	5422	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	24735484	24735484	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chrX:24735484G>A	ENST00000379059.3	+	9	781	c.766G>A	c.(766-768)Gag>Aag	p.E256K	POLA1_ENST00000379068.3_Missense_Mutation_p.E262K	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	256					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.E256K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGACTTTGATGAGCCCATGGA	0.512																																																1	Substitution - Missense(1)	kidney(1)											158	126	137					X																	24735484		2203	4300	6503	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.766G>A	X.37:g.24735484G>A	ENSP00000368349:p.Glu256Lys		Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502574	0.85176	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.18016	2.24;2.24	4.47	4.47	0.54385	.	0.052171	0.85682	D	0.000000	T	0.32406	0.0828	M	0.76328	2.33	0.80722	D	1	D;P	0.52996	0.957;0.917	P;P	0.54174	0.744;0.524	T	0.15867	-1.0422	10	0.14656	T	0.56	-9.6567	16.5259	0.84331	0.0:0.0:1.0:0.0	.	262;256	A6NMQ1;P09884	.;DPOLA_HUMAN	K	262;256	ENSP00000368358:E262K;ENSP00000368349:E256K	ENSP00000368349:E256K	E	+	1	0	POLA1	24645405	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	8.374000	0.90133	2.072000	0.62099	0.292000	0.19580	GAG		0.512	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		A	24735484	G	A	24735484	3	1	389	1	0	0	0	0	1	0	0	0	12189	1291	45	2	800	2	POLA1	23	24735484	Missense_Mutation	SNP	G	TCGA-BP-4974-01A-01D-1462-08		24735484	130535076	26	21519											
SHROOM4	57477	hgsc.bcm.edu	37	X	50350758	50350758	+	Silent	SNP	C	C	T	rs201922875|rs553160982		TCGA-BP-4974-01A-01D-1462-08	TCGA-BP-4974-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3e787cd9-fd58-4818-b68f-19ce1550c566	6bc3f689-898a-431d-b2ca-9661ecf14ac2	g.chrX:50350758C>T	ENST00000289292.7	-	6	3667	c.3384G>A	c.(3382-3384)caG>caA	p.Q1128Q	SHROOM4_ENST00000376020.2_Silent_p.Q1128Q|SHROOM4_ENST00000460112.3_Silent_p.Q1012Q			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgct	0.592																																																0													16	16	16					X																	50350758		2200	4287	6487	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3384G>A	X.37:g.50350758C>T			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																				0.592	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		T	50350758	C	T	50350758	2	4	389	1	0	0	0	0	0	0	0	1	14302	912	32	2		2	SHROOM4	23	50350758	Silent	SNP	C	TCGA-BP-4974-01A-01D-1462-08	25615274	50350758	104919802	27	21520											
MACF1	23499	hgsc.bcm.edu;ucsc.edu	37	1	39781186	39781194	+	Splice_Site	DEL	ACACCCAGG	ACACCCAGG	-			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	ACACCCAGG	ACACCCAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr1:39781186_39781194delACACCCAGG	ENST00000372915.3	+	26	3374_3382	c.3287_3295delACACCCAGG	c.(3286-3297)cacacccaggag>cag	p.1096_1099HTQE>Q	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Splice_Site_p.1096_1099HTQE>Q|MACF1_ENST00000564288.1_Splice_Site_p.1091_1094HTQE>Q|MACF1_ENST00000545844.1_Splice_Site_p.1096_1099HTQE>Q|MACF1_ENST00000361689.2_Splice_Site_p.1096_1099HTQE>Q|MACF1_ENST00000317713.7_Splice_Site_p.1096_1099HTQE>Q|MACF1_ENST00000567887.1_Splice_Site_p.1128_1131HTQE>Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1096					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCTGGCAGCACACCCAGGAGGATTTACA	0.421																																																0																																										SO:0001630	splice_region_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3286-1ACACCCAGG>-	1.37:g.39781186_39781194delACACCCAGG			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	In_Frame_Del	DEL	ENST00000372915.3	37																																																																																					0.421	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	In_Frame_Del	-	39781194	ACACCCAGG	-	39781186	8	5	390	1	0	1	0	1	0	0	1	0	9146	173	6	0	3389	0	MACF1	1	39781186	Splice_Site	DEL	ACACCCAGG	TCGA-BP-4975-01A-01D-1462-08		39781186	209469435	1	21521											
CHIA	27159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111860638	111860638	+	Silent	SNP	C	C	T	rs148384495		TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr1:111860638C>T	ENST00000369740.1	+	8	739	c.636C>T	c.(634-636)taC>taT	p.Y212Y	CHIA_ENST00000343320.6_Silent_p.Y212Y|CHIA_ENST00000483391.1_Silent_p.Y51Y|CHIA_ENST00000353665.6_Silent_p.Y51Y|CHIA_ENST00000430615.1_Silent_p.Y104Y|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Silent_p.Y51Y	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	212	Chitooligosaccharide binding. {ECO:0000305}.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.Y212Y(1)|p.Y104Y(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TCATGACCTACGACCTCCATG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20287	0.0		0.0	False		,,,				2504	0.001															2	Substitution - coding silent(2)	kidney(2)						C	,	1,4405	2.1+/-5.4	0,1,2202	96	89	91		312,636	-0.7	0.9	1	dbSNP_134	91	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous	CHIA	NM_021797.2,NM_201653.2	,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,	104/369,212/477	111860638	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.636C>T	1.37:g.111860638C>T			Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	37	CCDS41368.1																																																																																				0.542	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			T	111860638	C	T	111860638	2	4	390	1	0	0	0	0	0	0	0	1	3344	547	19	1		1	CHIA	1	111860638	Silent	SNP	C	TCGA-BP-4975-01A-01D-1462-08	72079452	111860638	137389983	2	21522											
KCNJ10	3766	broad.mit.edu	37	1	160011200	160011200	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr1:160011200G>A	ENST00000368089.3	-	2	1349	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	375					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)	p.R375S(1)|p.R375C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TTGCTGATGCGCACACTAAGG	0.532																																					GBM(167;1368 2014 14817 36425 43215)											2	Substitution - Missense(2)	lung(1)|kidney(1)											96	72	80					1																	160011200		2203	4300	6503	SO:0001583	missense	3766			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.1123C>T	1.37:g.160011200G>A	ENSP00000357068:p.Arg375Cys		A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935814	0.52972	.	.	ENSG00000177807	ENST00000368089	D	0.90069	-2.61	4.77	4.77	0.60923	.	0.000000	0.44902	D	0.000419	D	0.84973	0.5591	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	P	0.60236	0.871	D	0.87512	0.2440	10	0.87932	D	0	.	10.4021	0.44235	0.0:0.0:0.8053:0.1947	.	375	P78508	IRK10_HUMAN	C	375	ENSP00000357068:R375C	ENSP00000357068:R375C	R	-	1	0	KCNJ10	158277824	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.070000	0.50033	2.489000	0.83994	0.655000	0.94253	CGC		0.532	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		A	160011200	G	A	160011200	3	1	390	1	0	0	0	0	1	0	0	0	8046	1087	38	1	20	1	KCNJ10	1	160011200	Missense_Mutation	SNP	G	TCGA-BP-4975-01A-01D-1462-08	48150562	160011200	89239421	3	21523											
TEKT4	150483	hgsc.bcm.edu	37	2	95539855	95539855	+	Splice_Site	SNP	T	T	G	rs201662522	byFrequency	TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr2:95539855T>G	ENST00000295201.4	+	3	850		c.e3+2		AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4						cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCAAGAGAGGTGGGCCCCAGC	0.682																																																0													56	54	55					2																	95539855		2203	4300	6503	SO:0001630	splice_region_variant	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.713+2T>G	2.37:g.95539855T>G				Splice_Site	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.316724	0.40996	.	.	ENSG00000163060	ENST00000295201	.	.	.	2.24	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0143	0.30372	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEKT4	94903582	1.000000	0.71417	0.603000	0.28903	0.057000	0.15508	4.740000	0.62087	0.779000	0.33543	0.254000	0.18369	.		0.682	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705	Intron	G	95539855	T	G	95539855	5	3	390	1	0	0	0	0	0	0	1	0	15760	1710	59	5	725	5	TEKT4	2	95539855	Splice_Site	SNP	T	TCGA-BP-4975-01A-01D-1462-08		95539855	147659518	4	21524											
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238249678	238249678	+	Silent	SNP	A	A	C			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr2:238249678A>C	ENST00000295550.4	-	38	8333	c.7881T>G	c.(7879-7881)gcT>gcG	p.A2627A	COL6A3_ENST00000353578.4_Silent_p.A2421A|COL6A3_ENST00000346358.4_Silent_p.A2427A|COL6A3_ENST00000347401.3_Silent_p.A2426A|COL6A3_ENST00000472056.1_Silent_p.A2020A|COL6A3_ENST00000409809.1_Silent_p.A2421A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2627	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A2627A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGTGGTCTCAGCGCTGTCTA	0.547																																																1	Substitution - coding silent(1)	kidney(1)											206	195	199					2																	238249678		2203	4300	6503	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7881T>G	2.37:g.238249678A>C			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238249678	A	C	238249678	2	2	390	1	0	0	0	0	0	0	0	1	3703	175	7	5		5	COL6A3	2	238249678	Silent	SNP	A	TCGA-BP-4975-01A-01D-1462-08	142709823	238249678	4949695	5	21525											
VHL	7428	broad.mit.edu	37	3	10183752	10183752	+	Missense_Mutation	SNP	T	T	A	rs5030803		TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr3:10183752T>A	ENST00000256474.2	+	1	1061	c.221T>A	c.(220-222)gTc>gAc	p.V74D	VHL_ENST00000345392.2_Missense_Mutation_p.V74D|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	74			V -> G (in VHLD; type I-II; dbSNP:rs5030803). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V74D(8)|p.V74A(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.P71fs*56(1)|p.V74>?(1)|p.V74fs*77(1)|p.V74fs*82(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCTCCCAGGTCATCTTCTGC	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	18	Substitution - Missense(9)|Deletion - Frameshift(6)|Complex - deletion inframe(1)|Deletion - In frame(1)|Complex(1)	kidney(17)|soft_tissue(1)	GRCh37	CM961417	VHL	M	rs5030803						10	14	12					3																	10183752		2163	4233	6396	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.221T>A	3.37:g.10183752T>A	ENSP00000256474:p.Val74Asp		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.947597	0.92593	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99842	-7.1;-7.1	5.34	4.16	0.48862	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.120953	0.56097	D	0.000027	D	0.99697	0.9885	M	0.73962	2.25	0.53688	D	0.999978	D;D	0.76494	0.998;0.999	D;D	0.70935	0.944;0.971	D	0.97903	1.0304	10	0.87932	D	0	-6.556	10.613	0.45434	0.0:0.0:0.1618:0.8382	.	74;74	P40337-2;P40337	.;VHL_HUMAN	D	74	ENSP00000256474:V74D;ENSP00000344757:V74D	ENSP00000256474:V74D	V	+	2	0	VHL	10158752	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.431000	0.52814	0.851000	0.35264	0.450000	0.29827	GTC		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183752	T	A	10183752	3	1	390	1	0	0	0	0	1	0	0	0	17167	1667	58	5	223	5	VHL	3	10183752	Missense_Mutation	SNP	T	TCGA-BP-4975-01A-01D-1462-08		10183752	187838678	6	21526											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52621433	52621434	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	CT	CT	CT	-	CT	CT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr3:52621433_52621434delCT	ENST00000296302.7	-	19	3059_3060	c.3058_3059delAG	c.(3058-3060)agtfs	p.S1020fs	PBRM1_ENST00000337303.4_Frame_Shift_Del_p.S1020fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.S995fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.S1035fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.S995fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.S988fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.S1035fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.S1020fs			Q86U86	PB1_HUMAN	polybromo 1	1020	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTAATAGTCACTCTTAAAAACT	0.351			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3058_3059delAG	3.37:g.52621435_52621436delCT	ENSP00000296302:p.Ser1020fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.351	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52621434	CT	-	52621433	7	5	390	1	0	1	0	1	0	0	0	0	11493	565	20	0	1889	0	PBRM1	3	52621433	Frame_Shift_Del	DEL	CT	TCGA-BP-4975-01A-01D-1462-08	42437681	52621433	145400997	7	21527											
ZFYVE28	57732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2306052	2306052	+	Missense_Mutation	SNP	G	G	A	rs117669252	byFrequency	TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr4:2306052G>A	ENST00000290974.2	-	8	2354	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S642L|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S602L|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	672			S -> P (in dbSNP:rs661301). {ECO:0000269|PubMed:10997877, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.S672L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTCGTGAGCCGAGGGGCTCCC	0.667													G|||	14	0.00279553	0.0068	0.0	5008	,	,		15583	0.005		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	LEU/SER,LEU/SER,LEU/SER	24,4374		0,24,2175	38	44	42		1925,1805,2015	1.4	0	4	dbSNP_132	42	2,8592		0,2,4295	yes	missense,missense,missense	ZFYVE28	NM_001172656.1,NM_001172659.1,NM_020972.2	145,145,145	0,26,6470	AA,AG,GG		0.0233,0.5457,0.2001	benign,benign,benign	642/858,602/818,672/888	2306052	26,12966	2199	4297	6496	SO:0001583	missense	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2015C>T	4.37:g.2306052G>A	ENSP00000290974:p.Ser672Leu		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	CCDS33942.1	9	0.004120879120879121	4	0.008130081300813009	0	0.0	5	0.008741258741258742	0	0.0	G	10.50	1.366827	0.24771	0.005457	2.33E-4	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.58506	0.33;0.33;0.33	3.14	1.36	0.22044	.	3.264500	0.00799	N	0.001410	T	0.25531	0.0621	N	0.03608	-0.345	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.04013	0.001;0.0	T	0.16748	-1.0392	10	0.29301	T	0.29	.	3.7751	0.08657	0.1314:0.0:0.629:0.2396	.	642;672	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	L	672;642;602	ENSP00000290974:S672L;ENSP00000425706:S642L;ENSP00000426299:S602L	ENSP00000290974:S672L	S	-	2	0	ZFYVE28	2275850	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	0.378000	0.20569	0.359000	0.24239	0.306000	0.20318	TCG		0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		A	2306052	G	A	2306052	3	1	390	1	0	0	0	0	1	0	0	0	17675	1059	37	1	672	1	ZFYVE28	4	2306052	Missense_Mutation	SNP	G	TCGA-BP-4975-01A-01D-1462-08		2306052	188848224	8	21528											
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	90025457	90025457	+	Splice_Site	SNP	A	A	C			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr5:90025457A>C	ENST00000405460.2	+	50	10522		c.e50-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCATTATTGCAGGAGATCAGA	0.289																																																1	Unknown(1)	kidney(1)											110	94	99					5																	90025457		1799	4066	5865	SO:0001630	splice_region_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10427-1A>C	5.37:g.90025457A>C			O75171|Q8TF58|Q9H0X5|Q9UL61	Splice_Site	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294008	0.60086	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000509621	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8658	0.70416	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR98	90061213	1.000000	0.71417	0.975000	0.42487	0.634000	0.38068	6.518000	0.73764	2.253000	0.74438	0.455000	0.32223	.		0.289	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Intron	C	90025457	A	C	90025457	5	2	390	1	0	0	0	0	0	0	1	0	6723	202	7	5	10623	5	GPR98	5	90025457	Splice_Site	SNP	A	TCGA-BP-4975-01A-01D-1462-08		90025457	90889803	9	21529											
KIF13A	63971	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	17828563	17828563	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr6:17828563G>C	ENST00000259711.6	-	14	1545	c.1440C>G	c.(1438-1440)atC>atG	p.I480M	KIF13A_ENST00000378826.2_Missense_Mutation_p.I480M|KIF13A_ENST00000378816.5_Missense_Mutation_p.I480M|KIF13A_ENST00000378814.5_Missense_Mutation_p.I480M|KIF13A_ENST00000378843.2_Missense_Mutation_p.I480M	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	480	FHA.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I480M(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAAAAAGCTGGATATCTTGAG	0.398																																																2	Substitution - Missense(2)	kidney(2)											70	65	66					6																	17828563		1896	4116	6012	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1440C>G	6.37:g.17828563G>C	ENSP00000259711:p.Ile480Met		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492925	0.64074	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57	6.04	4.01	0.46588	Forkhead-associated (FHA) domain (3);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.93953	0.8064	H	0.95437	3.67	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.987;0.962;0.998;0.997	D	0.93602	0.6931	10	0.87932	D	0	.	4.9812	0.14166	0.1861:0.0:0.4529:0.361	.	451;480;480;480;480	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	M	480	ENSP00000368091:I480M;ENSP00000259711:I480M;ENSP00000368103:I480M;ENSP00000368120:I480M;ENSP00000368093:I480M	ENSP00000259711:I480M	I	-	3	3	KIF13A	17936542	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.666000	0.37460	1.491000	0.48482	0.563000	0.77884	ATC		0.398	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			C	17828563	G	C	17828563	3	2	390	1	0	0	0	0	1	0	0	0	8276	1164	41	4	4106	4	KIF13A	6	17828563	Missense_Mutation	SNP	G	TCGA-BP-4975-01A-01D-1462-08		17828563	153286504	10	21530											
SKIV2L	6499	broad.mit.edu;hgsc.bcm.edu	37	6	31932019	31932019	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr6:31932019T>C	ENST00000375394.2	+	17	1984	c.1871T>C	c.(1870-1872)aTg>aCg	p.M624T	SKIV2L_ENST00000544581.1_Missense_Mutation_p.M431T	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	624	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.M624T(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GTCCTGCACATGTCAGAGCTC	0.597																																																1	Substitution - Missense(1)	kidney(1)											106	77	87					6																	31932019		1510	2709	4219	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1871T>C	6.37:g.31932019T>C	ENSP00000364543:p.Met624Thr		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926401	0.73327	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.39997	1.05;1.05	5.95	5.95	0.96441	Helicase, C-terminal (2);	0.035850	0.85682	D	0.000000	T	0.54271	0.1848	M	0.76838	2.35	0.80722	D	1	D	0.60575	0.988	P	0.59056	0.851	T	0.61826	-0.6983	10	0.87932	D	0	-34.127	15.3985	0.74816	0.0:0.0:0.0:1.0	.	624	Q15477	SKIV2_HUMAN	T	624;466;431	ENSP00000364543:M624T;ENSP00000442645:M431T	ENSP00000364543:M624T	M	+	2	0	SKIV2L	32039998	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.988000	0.76212	2.279000	0.76181	0.533000	0.62120	ATG		0.597	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			C	31932019	T	C	31932019	3	2	390	1	0	0	0	0	1	0	0	0	14365	1464	51	3	1937	3	SKIV2L	6	31932019	Missense_Mutation	SNP	T	TCGA-BP-4975-01A-01D-1462-08	14103456	31932019	139183048	11	21531											
NOX3	50508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	155776182	155776182	+	Nonsense_Mutation	SNP	G	G	A	rs143358981		TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr6:155776182G>A	ENST00000159060.2	-	2	232	c.130C>T	c.(130-132)Cga>Tga	p.R44*		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	44					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.R44*(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AAAATAACTCGTGTGTAATGG	0.343													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18049	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Nonsense(1)	kidney(1)						G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	68	65	66		130	4.7	1	6	dbSNP_134	66	5,8595	4.3+/-15.6	0,5,4295	yes	stop-gained	NOX3	NM_015718.2		0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461		44/569	155776182	6,13000	2203	4300	6503	SO:0001587	stop_gained	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.130C>T	6.37:g.155776182G>A	ENSP00000159060:p.Arg44*		Q9HBJ9	Nonsense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	37	6.485134	0.97603	2.27E-4	5.81E-4	ENSG00000074771	ENST00000159060	.	.	.	5.61	4.73	0.59995	.	0.000000	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7291	11.4543	0.50171	0.0:0.13:0.7186:0.1514	.	.	.	.	X	44	.	ENSP00000159060:R44X	R	-	1	2	NOX3	155817874	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.049000	0.49869	1.460000	0.47911	-0.284000	0.09977	CGA		0.343	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			A	155776182	G	A	155776182	4	1	390	1	0	0	0	0	0	1	0	0	10559	1153	40	1	1624	1	NOX3	6	155776182	Nonsense_Mutation	SNP	G	TCGA-BP-4975-01A-01D-1462-08	123844163	155776182	15338885	12	21532											
C7orf27	221927	broad.mit.edu	37	7	2577862	2577862	+	Silent	SNP	A	A	G			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr7:2577862A>G	ENST00000340611.4	-	14	2563	c.2307T>C	c.(2305-2307)ccT>ccC	p.P769P	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	769					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.P769P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCACAGCCTCAGGCTCCTGGT	0.716																																																1	Substitution - coding silent(1)	kidney(1)											17	19	18					7																	2577862		2198	4286	6484	SO:0001819	synonymous_variant	0			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.2307T>C	7.37:g.2577862A>G			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	CCDS5334.1																																																																																				0.716	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		G	2577862	A	G	2577862	2	3	390	1	0	0	0	0	0	0	0	1	2384	175	7	3		3	C7orf27	7	2577862	Silent	SNP	A	TCGA-BP-4975-01A-01D-1462-08		2577862	156560801	13	21533											
ODF2	4957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131256884	131256884	+	Silent	SNP	A	A	G			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr9:131256884A>G	ENST00000434106.3	+	17	2211	c.1848A>G	c.(1846-1848)caA>caG	p.Q616Q	ODF2_ENST00000604420.1_Silent_p.Q616Q|ODF2_ENST00000351030.3_Silent_p.Q611Q|ODF2_ENST00000546203.1_Silent_p.Q597Q|ODF2_ENST00000372814.3_Silent_p.Q660Q|ODF2_ENST00000448249.3_Silent_p.Q535Q|ODF2_ENST00000444119.2_Silent_p.Q592Q|ODF2_ENST00000393527.3_Silent_p.Q592Q|ODF2_ENST00000372807.5_Silent_p.Q611Q|ODF2_ENST00000372791.3_Silent_p.Q597Q|ODF2_ENST00000393533.2_Silent_p.Q616Q	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	616					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.Q616Q(1)|p.Q592Q(1)|p.Q660Q(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCCAAGACCAACTGCAGGGCT	0.587																																																3	Substitution - coding silent(3)	kidney(3)											77	67	71					9																	131256884		2203	4300	6503	SO:0001819	synonymous_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1848A>G	9.37:g.131256884A>G			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	CCDS56588.1																																																																																				0.587	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			G	131256884	A	G	131256884	2	3	390	1	0	0	0	0	0	0	0	1	10829	40	2	3		3	ODF2	9	131256884	Silent	SNP	A	TCGA-BP-4975-01A-01D-1462-08		131256884	9956547	14	21534											
CKAP5	9793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46782199	46782199	+	Missense_Mutation	SNP	G	G	A	rs540835227		TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr11:46782199G>A	ENST00000529230.1	-	33	4403	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C|SNORD67_ENST00000516618.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|SNORD67_ENST00000390833.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1453					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.R1453C(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGTCCCTTGCGTAACATGTTG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		20329	0.001		0.0	False		,,,				2504	0.0				Ovarian(4;85 273 2202 4844 13323)											1	Substitution - Missense(1)	kidney(1)											239	197	211					11																	46782199		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4357C>T	11.37:g.46782199G>A	ENSP00000432768:p.Arg1453Cys		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.036557|4.036557	0.75617|0.75617	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.51071|.	0.72;0.74;0.74;0.74|.	6.03|6.03	5.12|5.12	0.69794|0.69794	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;B;B|.	0.89917|.	1.0;0.004;0.002|.	D;B;B|.	0.72625|.	0.978;0.001;0.0|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|5	0.59425|.	D|.	0.04|.	-10.0088|-10.0088	15.5956|15.5956	0.76578|0.76578	0.0658:0.0:0.9342:0.0|0.0658:0.0:0.9342:0.0	.|.	1453;1453;1453|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	C|M	1453;1453;1453;1453;176|1	ENSP00000432768:R1453C;ENSP00000395302:R1453C;ENSP00000310227:R1453C;ENSP00000346566:R1453C|.	ENSP00000310227:R1453C|.	R|T	-|-	1|2	0|0	CKAP5|CKAP5	46738775|46738775	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.997000|0.997000	0.91878|0.91878	5.506000|5.506000	0.66993|0.66993	1.556000|1.556000	0.49512|0.49512	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.483	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		A	46782199	G	A	46782199	3	1	390	1	0	0	0	0	1	0	0	0	3447	1145	40	1	1789	1	CKAP5	11	46782199	Missense_Mutation	SNP	G	TCGA-BP-4975-01A-01D-1462-08		46782199	88224317	15	21535											
P2RX3	5024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57118271	57118271	+	Silent	SNP	C	C	T			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr11:57118271C>T	ENST00000263314.2	+	8	775	c.741C>T	c.(739-741)tgC>tgT	p.C247C		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	247					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.C247C(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCTGGGTGTGCGACTTGGACA	0.597																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											89	74	79					11																	57118271		2201	4296	6497	SO:0001819	synonymous_variant	5024			Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.741C>T	11.37:g.57118271C>T			Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	CCDS7953.1																																																																																				0.597	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		T	57118271	C	T	57118271	2	4	390	1	0	0	0	0	0	0	0	1	11343	776	27	1		1	P2RX3	11	57118271	Silent	SNP	C	TCGA-BP-4975-01A-01D-1462-08	10336072	57118271	77888245	16	21536											
DDI1	414301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103908554	103908554	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr11:103908554T>C	ENST00000302259.3	+	1	1247	c.1004T>C	c.(1003-1005)cTc>cCc	p.L335P	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	335							aspartic-type endopeptidase activity (GO:0004190)	p.L335P(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTAGATATGCTCCGGAGACAT	0.443																																																2	Substitution - Missense(2)	kidney(2)											134	126	129					11																	103908554		2202	4299	6501	SO:0001583	missense	414301				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1004T>C	11.37:g.103908554T>C	ENSP00000302805:p.Leu335Pro		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946953	0.53186	.	.	ENSG00000170967	ENST00000302259	T	0.68331	-0.32	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.64402	D	0.000001	D	0.85410	0.5690	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88921	0.3366	10	0.87932	D	0	-7.9657	13.3819	0.60773	0.0:0.0:0.0:1.0	.	335	Q8WTU0	DDI1_HUMAN	P	335	ENSP00000302805:L335P	ENSP00000302805:L335P	L	+	2	0	DDI1	103413764	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	7.333000	0.79214	2.326000	0.78906	0.533000	0.62120	CTC		0.443	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		C	103908554	T	C	103908554	3	2	390	1	0	0	0	0	1	0	0	0	4330	1551	54	3	1006	3	DDI1	11	103908554	Missense_Mutation	SNP	T	TCGA-BP-4975-01A-01D-1462-08	46790283	103908554	31097962	17	21537											
VWA5A	4013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123995002	123995002	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr11:123995002G>A	ENST00000456829.2	+	11	1474	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	VWA5A_ENST00000392744.4_Missense_Mutation_p.R424K|VWA5A_ENST00000361352.5_Missense_Mutation_p.R408K|VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.R408K|VWA5A_ENST00000449321.1_Missense_Mutation_p.R408K	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	408	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.R408K(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AAAGAAGTTAGGATCAACAGA	0.388																																																1	Substitution - Missense(1)	kidney(1)											91	86	88					11																	123995002		2201	4299	6500	SO:0001583	missense	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1223G>A	11.37:g.123995002G>A	ENSP00000407726:p.Arg408Lys		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	2.693	-0.272686	0.05716	.	.	ENSG00000110002	ENST00000456829;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.68	-3.26	0.05064	von Willebrand factor, type A (3);	0.812122	0.11782	N	0.530109	T	0.03915	0.0110	N	0.16903	0.455	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.14023	0.002;0.01	T	0.46911	-0.9157	10	0.13108	T	0.6	-0.8526	6.902	0.24288	0.4104:0.0:0.4655:0.1241	.	424;408	B4DHS6;O00534	.;VMA5A_HUMAN	K	408;408;408;408;424	ENSP00000407726:R408K;ENSP00000376504:R408K;ENSP00000355070:R408K;ENSP00000404683:R408K;ENSP00000376501:R424K	ENSP00000355070:R408K	R	+	2	0	VWA5A	123500212	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.848000	0.04326	-0.601000	0.05783	-0.806000	0.03193	AGG		0.388	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		A	123995002	G	A	123995002	3	1	390	1	0	0	0	0	1	0	0	0	17247	1000	35	2	1257	2	VWA5A	11	123995002	Missense_Mutation	SNP	G	TCGA-BP-4975-01A-01D-1462-08	20086448	123995002	11011514	18	21538											
H2AFJ	55766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14927791	14927791	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr12:14927791A>T	ENST00000544848.1	+	1	522	c.387A>T	c.(385-387)aaA>aaT	p.K129N		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	129						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K129N(1)		NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						CGAAGAGCAAATGACCCTGAC	0.607																																																1	Substitution - Missense(1)	kidney(1)											41	42	41					12																	14927791		2203	4300	6503	SO:0001583	missense	55766			AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"Histones / Replication-independent"	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.387A>T	12.37:g.14927791A>T	ENSP00000438553:p.Lys129Asn		Q9NV63	Missense_Mutation	SNP	ENST00000544848.1	37	CCDS31752.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.836562	0.32421	.	.	ENSG00000246705	ENST00000544848	D	0.83075	-1.68	4.64	2.83	0.33086	.	.	.	.	.	T	0.66426	0.2788	N	0.08118	0	0.35101	D	0.765267	B	0.10296	0.003	B	0.08055	0.003	T	0.67035	-0.5772	9	0.72032	D	0.01	.	9.3503	0.38133	0.177:0.0:0.823:0.0	.	129	Q9BTM1	H2AJ_HUMAN	N	129	ENSP00000438553:K129N	ENSP00000373730:K129N	K	+	3	2	H2AFJ	14819058	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.170000	0.31883	0.893000	0.36288	-0.137000	0.14449	AAA		0.607	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400845.1	NM_177925		T	14927791	A	T	14927791	3	4	390	1	0	0	0	0	1	0	0	0	6928	98	4	5	389	5	H2AFJ	12	14927791	Missense_Mutation	SNP	A	TCGA-BP-4975-01A-01D-1462-08		14927791	118924104	19	21539											
C13orf18	80183	broad.mit.edu;hgsc.bcm.edu	37	13	46935677	46935677	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr13:46935677C>G	ENST00000429979.1	-	8	1622	c.1018G>C	c.(1018-1020)Gaa>Caa	p.E340Q	KIAA0226L_ENST00000378787.3_Missense_Mutation_p.E340Q|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.E183Q|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.E183Q|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.E340Q|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.E205Q|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.E273Q|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.E340Q|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.Q319H	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	340								p.E340Q(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GCTAATAGTTCTGCAGAATTG	0.453																																																1	Substitution - Missense(1)	kidney(1)											67	60	62					13																	46935677		2203	4300	6503	SO:0001583	missense	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1018G>C	13.37:g.46935677C>G	ENSP00000396935:p.Glu340Gln		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.17|19.17	3.775408|3.775408	0.70107|0.70107	.|.	.|.	ENSG00000102445|ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925|ENST00000378781	T;T;T;T;T;T|T	0.58358|0.47177	0.44;0.34;0.49;0.44;0.34;0.54|0.85	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.078284|.	0.53938|.	D|.	0.000047|.	T|T	0.62134|0.62134	0.2403|0.2403	M|M	0.66939|0.66939	2.045|2.045	0.25627|0.25627	N|N	0.986349|0.986349	D;D;D;D;D;D|.	0.89917|.	0.994;0.998;0.999;0.998;1.0;1.0|.	P;P;P;P;D;D|.	0.74023|.	0.767;0.842;0.879;0.879;0.967;0.982|.	T|T	0.58346|0.58346	-0.7652|-0.7652	10|7	0.66056|0.87932	D|D	0.02|0	-9.9685|-9.9685	16.9164|16.9164	0.86153|0.86153	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	183;183;340;205;273;340|.	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4|.	.;.;K226L_HUMAN;.;.;.|.	Q|H	340;340;273;340;340;183;183;205|319	ENSP00000396935:E340Q;ENSP00000368074:E340Q;ENSP00000368061:E273Q;ENSP00000374558:E340Q;ENSP00000368064:E340Q;ENSP00000437501:E205Q|ENSP00000368057:Q319H	ENSP00000315633:E183Q|ENSP00000368057:Q319H	E|Q	-|-	1|3	0|2	KIAA0226L|KIAA0226L	45833678|45833678	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.611000|0.611000	0.37282|0.37282	3.064000|3.064000	0.49986|0.49986	2.743000|2.743000	0.94032|0.94032	0.643000|0.643000	0.83706|0.83706	GAA|CAG		0.453	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		G	46935677	C	G	46935677	3	3	390	1	0	0	0	0	1	0	0	0	1722	922	32	4	1002	4	C13orf18	13	46935677	Missense_Mutation	SNP	C	TCGA-BP-4975-01A-01D-1462-08		46935677	68234201	20	21540											
PCSK6	5046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	101933619	101933619	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr15:101933619delC	ENST00000348070.1	-	9	1003	c.1004delG	c.(1003-1005)ggcfs	p.G335fs	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Frame_Shift_Del_p.G335fs|PCSK6_ENST00000398181.2_Frame_Shift_Del_p.G335fs|PCSK6_ENST00000344273.2_Frame_Shift_Del_p.G335fs|PCSK6_ENST00000331826.7_Frame_Shift_Del_p.G170fs	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	336	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAGCCCAGGCCCTGCCGGCC	0.612																																																0													39	46	43					15																	101933619		2183	4297	6480	SO:0001589	frameshift_variant	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1004delG	15.37:g.101933619delC	ENSP00000305056:p.Gly335fs		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Frame_Shift_Del	DEL	ENST00000348070.1	37																																																																																					0.612	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		-	101933619	C	-	101933619	7	5	390	1	0	1	0	1	0	0	0	0	11606	739	26	0	2441	0	PCSK6	15	101933619	Frame_Shift_Del	DEL	C	TCGA-BP-4975-01A-01D-1462-08		101933619	597773	21	21541											
HAGH	3029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1866933	1866933	+	Silent	SNP	G	G	A	rs201539587		TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr16:1866933G>A	ENST00000397356.3	-	7	1114	c.708C>T	c.(706-708)ccC>ccT	p.P236P	HAGH_ENST00000455446.2_Missense_Mutation_p.P200L|HAGH_ENST00000397353.2_Silent_p.P188P|HAGH_ENST00000566709.1_Silent_p.P188P	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	236					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)	p.P188P(1)		kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CGGCATTGCCGGGCTCCACGT	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17457	0.0		0.0	False		,,,				2504	0.0				Pancreas(55;1048 1176 25227 40124 41333)											1	Substitution - coding silent(1)	kidney(1)											94	79	85					16																	1866933		2199	4300	6499	SO:0001819	synonymous_variant	3029			X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.708C>T	16.37:g.1866933G>A			A8K290|B4DP33|B4DRA7|E7EN93	Silent	SNP	ENST00000397356.3	37	CCDS10447.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.910	0.537450	0.13188	.	.	ENSG00000063854	ENST00000455446	.	.	.	4.97	-2.56	0.06268	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.06405	0.002	T	0.20739	-1.0266	8	0.06494	T	0.89	.	4.5759	0.12234	0.3059:0.0:0.3769:0.3172	.	200	E7EN93	.	L	200	.	ENSP00000406552:P200L	P	-	2	0	HAGH	1806934	0.002000	0.14202	0.109000	0.21407	0.436000	0.31835	-0.097000	0.11042	-0.070000	0.12908	-0.137000	0.14449	CCG		0.627	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		A	1866933	G	A	1866933	2	1	390	1	0	0	0	0	0	0	0	1	6947	1103	39	1		1	HAGH	16	1866933	Silent	SNP	G	TCGA-BP-4975-01A-01D-1462-08		1866933	88487820	22	21542											
PLEKHG4	25894	broad.mit.edu;hgsc.bcm.edu	37	16	67318759	67318759	+	Silent	SNP	G	G	A			TCGA-BP-4975-01A-01D-1462-08	TCGA-BP-4975-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	109d2752-17f8-4b00-a61f-dfd8e2e3ca81	412ed2d9-14aa-4f99-8fb3-91713e0e43c9	g.chr16:67318759G>A	ENST00000360461.5	+	12	4371	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L	PLEKHG4_ENST00000450733.1_Silent_p.L531L|PLEKHG4_ENST00000379344.3_Silent_p.L612L|PLEKHG4_ENST00000427155.2_Silent_p.L612L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	612							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L612L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGTGGGCTCTGGCCACGGGGC	0.672																																																1	Substitution - coding silent(1)	kidney(1)											18	20	19					16																	67318759		2196	4298	6494	SO:0001819	synonymous_variant	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1836G>A	16.37:g.67318759G>A			Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	CCDS32466.1																																																																																				0.672	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		A	67318759	G	A	67318759	2	1	390	1	0	0	0	0	0	0	0	1	12073	1335	47	2		2	PLEKHG4	16	67318759	Silent	SNP	G	TCGA-BP-4975-01A-01D-1462-08	65451826	67318759	23035994	23	21543											
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19488213	19488213	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:19488213C>T	ENST00000375254.3	-	37	5072	c.5045G>A	c.(5044-5046)tGt>tAt	p.C1682Y	UBR4_ENST00000375226.2_Missense_Mutation_p.C1682Y|UBR4_ENST00000375267.2_Missense_Mutation_p.C1682Y|UBR4_ENST00000375217.2_Missense_Mutation_p.C1682Y	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1682					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C1682Y(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCATTTTACAGGTGTGACA	0.463																																																1	Substitution - Missense(1)	kidney(1)											98	91	93					1																	19488213		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5045G>A	1.37:g.19488213C>T	ENSP00000364403:p.Cys1682Tyr		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954580	0.92726	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	D;D;D;D;D	0.93763	-2.16;-2.17;-2.21;-2.24;-3.28	6.17	6.17	0.99709	Zinc finger, N-recognin (2);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.92649	3.33	0.80722	D	1	D	0.62365	0.991	D	0.79784	0.993	D	0.97692	1.0179	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1682	Q5T4S7	UBR4_HUMAN	Y	1682;1682;1682;1682;392;898	ENSP00000364403:C1682Y;ENSP00000364416:C1682Y;ENSP00000364365:C1682Y;ENSP00000364374:C1682Y;ENSP00000404897:C392Y	ENSP00000364365:C1682Y	C	-	2	0	UBR4	19360800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	2.941000	0.99782	0.655000	0.94253	TGT		0.463	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		T	19488213	C	T	19488213	3	4	391	1	0	0	0	0	1	0	0	0	16909	478	17	2	10786	2	UBR4	1	19488213	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08		19488213	229762408	1	21544											
ZBTB40	9923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22828055	22828055	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:22828055A>G	ENST00000375647.4	+	4	1109	c.902A>G	c.(901-903)gAg>gGg	p.E301G	ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000404138.1_Missense_Mutation_p.E301G	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	301					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E301G(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAAGTAAGAGAGGAAAGCCTG	0.418																																																1	Substitution - Missense(1)	kidney(1)											123	112	116					1																	22828055		2203	4300	6503	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.902A>G	1.37:g.22828055A>G	ENSP00000364798:p.Glu301Gly		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314695	0.23908	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239	D;D;D	0.88586	-2.4;-2.4;-2.4	5.57	1.63	0.23807	.	0.635593	0.14381	N	0.323138	T	0.79816	0.4511	N	0.22421	0.69	0.09310	N	0.999991	B	0.13594	0.008	B	0.14578	0.011	T	0.68554	-0.5378	10	0.87932	D	0	-0.4954	7.0924	0.25291	0.6498:0.2725:0.0778:0.0	.	301	Q9NUA8	ZBT40_HUMAN	G	301	ENSP00000384527:E301G;ENSP00000364798:E301G;ENSP00000383098:E301G	ENSP00000364798:E301G	E	+	2	0	ZBTB40	22700642	0.904000	0.30761	0.004000	0.12327	0.098000	0.18820	1.961000	0.40432	0.020000	0.15106	0.524000	0.50904	GAG		0.418	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		G	22828055	A	G	22828055	3	3	391	1	0	0	0	0	1	0	0	0	17547	304	11	3	912	3	ZBTB40	1	22828055	Missense_Mutation	SNP	A	TCGA-BP-4976-01A-01D-1462-08	3339842	22828055	226422566	2	21545											
SLC25A24	29957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	108700179	108700179	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:108700179C>T	ENST00000565488.1	-	5	793	c.574G>A	c.(574-576)Gga>Aga	p.G192R	SLC25A24_ENST00000370041.4_Missense_Mutation_p.G173R	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	192					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.G173R(1)|p.G192R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CACCATTGTCCGGATTTTTTT	0.463																																																2	Substitution - Missense(2)	kidney(2)											106	100	102					1																	108700179		2203	4300	6503	SO:0001583	missense	29957			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"Solute carriers", "EF-hand domain containing"	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.574G>A	1.37:g.108700179C>T	ENSP00000457733:p.Gly192Arg		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546854	0.86022	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	T	0.77750	-1.12	5.18	5.18	0.71444	Mitochondrial carrier domain (2);	0.097004	0.64402	D	0.000001	T	0.82204	0.4986	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.65010	0.931;0.887	T	0.80645	-0.1290	10	0.39692	T	0.17	-20.0443	18.0295	0.89278	0.0:1.0:0.0:0.0	.	192;173	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	R	192;173	ENSP00000359058:G173R	ENSP00000264128:G192R	G	-	1	0	SLC25A24	108501702	1.000000	0.71417	0.056000	0.19401	0.752000	0.42762	7.698000	0.84413	2.560000	0.86352	0.585000	0.79938	GGA		0.463	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		T	108700179	C	T	108700179	3	4	391	1	0	0	0	0	1	0	0	0	14493	661	23	1	883	1	SLC25A24	1	108700179	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	85872124	108700179	140550442	3	21546											
SYPL2	284612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110020593	110020593	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:110020593G>C	ENST00000369872.3	+	5	826	c.610G>C	c.(610-612)Ggg>Cgg	p.G204R	SYPL2_ENST00000401021.3_Intron	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	204	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)	p.G204R(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTGCAGTGCCGGGGCCACGCC	0.647																																																1	Substitution - Missense(1)	kidney(1)											49	50	50					1																	110020593		2117	4230	6347	SO:0001583	missense	284612			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"mitsugumin-29"					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.610G>C	1.37:g.110020593G>C	ENSP00000358888:p.Gly204Arg		A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Missense_Mutation	SNP	ENST00000369872.3	37	CCDS41365.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195759	0.58126	.	.	ENSG00000143028	ENST00000369872	T	0.24908	1.83	6.04	6.04	0.98038	Marvel (1);MARVEL-like domain (1);	0.098510	0.64402	D	0.000001	T	0.37046	0.0989	M	0.71871	2.18	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.72625	0.969;0.95;0.978	T	0.14062	-1.0486	10	0.07175	T	0.84	.	19.3507	0.94384	0.0:0.0:1.0:0.0	.	112;204;204	Q14DL7;Q5VXT5;Q5VXT5-2	.;SYPL2_HUMAN;.	R	204	ENSP00000358888:G204R	ENSP00000358888:G204R	G	+	1	0	SYPL2	109822116	1.000000	0.71417	0.980000	0.43619	0.810000	0.45777	7.418000	0.80167	2.873000	0.98535	0.561000	0.74099	GGG		0.647	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		C	110020593	G	C	110020593	3	2	391	1	0	0	0	0	1	0	0	0	15468	1116	39	4	628	4	SYPL2	1	110020593	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	1320414	110020593	139230028	4	21547											
ABL2	27	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	179090792	179090792	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:179090792C>T	ENST00000502732.1	-	5	1101	c.898G>A	c.(898-900)Gga>Aga	p.G300R	ABL2_ENST00000504405.1_Missense_Mutation_p.G264R|ABL2_ENST00000507173.1_Missense_Mutation_p.G279R|ABL2_ENST00000512653.1_Missense_Mutation_p.G285R|ABL2_ENST00000511413.1_Missense_Mutation_p.G300R|ABL2_ENST00000392043.3_Missense_Mutation_p.G279R|ABL2_ENST00000344730.3_Missense_Mutation_p.G285R|ABL2_ENST00000408940.3_Missense_Mutation_p.G264R|ABL2_ENST00000367623.4_Missense_Mutation_p.G279R	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.G264R(1)|p.G300R(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TAAACCTCTCCATACTGACCG	0.448			T	ETV6	AML																																		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	2	Substitution - Missense(2)	kidney(2)											195	168	177					1																	179090792		2203	4300	6503	SO:0001583	missense	27			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.898G>A	1.37:g.179090792C>T	ENSP00000427562:p.Gly300Arg		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880188	0.91740	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000092	D	0.93635	0.7967	H	0.97415	4	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95848	0.8872	10	0.87932	D	0	.	17.7116	0.88323	0.0:1.0:0.0:0.0	.	279;279;300;264;264;279;264;300;285;264;285	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	R	300;264;285;285;264;279;279;300;279	ENSP00000427562:G300R;ENSP00000386152:G264R;ENSP00000339209:G285R;ENSP00000423578:G285R;ENSP00000426831:G264R;ENSP00000356595:G279R;ENSP00000423413:G279R;ENSP00000424697:G300R;ENSP00000375897:G279R	ENSP00000339209:G285R	G	-	1	0	ABL2	177357415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.418000	0.82041	0.655000	0.94253	GGA		0.448	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		T	179090792	C	T	179090792	3	4	391	1	0	0	0	0	1	0	0	0	93	603	21	2	2727	2	ABL2	1	179090792	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	69070199	179090792	70159829	5	21548											
SLC45A3	85414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205632093	205632093	+	Missense_Mutation	SNP	C	C	T	rs138897809		TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:205632093C>T	ENST00000367145.3	-	3	1121	c.826G>A	c.(826-828)Gtg>Atg	p.V276M	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	276					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.V276M(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGCTCAGCCACGAAGAGCCGG	0.672			T	"ETV1, ETV5, ELK4, ERG"	prostate								C|||	1	0.000199681	0.0	0.0	5008	,	,		17642	0.0		0.0	False		,,,				2504	0.001						Dom	yes		1	1q32	85414	"solute carrier family 45, member 3"		E	1	Substitution - Missense(1)	kidney(1)						C	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	31	36	34		826	4.5	1	1	dbSNP_134	34	0,8600		0,0,4300	yes	missense	SLC45A3	NM_033102.2	21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	276/554	205632093	2,13004	2203	4300	6503	SO:0001583	missense	85414			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.826G>A	1.37:g.205632093C>T	ENSP00000356113:p.Val276Met		A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942645	0.73672	4.54E-4	0.0	ENSG00000158715	ENST00000367145	D	0.91996	-2.95	5.37	4.47	0.54385	Major facilitator superfamily domain, general substrate transporter (1);	0.055760	0.64402	D	0.000001	D	0.94049	0.8093	M	0.75777	2.31	0.42181	D	0.991686	D;D	0.69078	0.997;0.997	P;P	0.55112	0.769;0.769	D	0.93957	0.7237	10	0.51188	T	0.08	0.9301	13.9717	0.64245	0.0:0.9262:0.0:0.0738	.	276;276	A8K2U9;Q96JT2	.;S45A3_HUMAN	M	276	ENSP00000356113:V276M	ENSP00000356113:V276M	V	-	1	0	SLC45A3	203898716	0.991000	0.36638	0.978000	0.43139	0.878000	0.50629	2.946000	0.49050	1.274000	0.44362	-0.119000	0.15052	GTG		0.672	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		T	205632093	C	T	205632093	3	4	391	1	0	0	0	0	1	0	0	0	14648	536	19	1	847	1	SLC45A3	1	205632093	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	26541301	205632093	43618528	6	21549											
TAF5L	27097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	229738593	229738593	+	Silent	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:229738593C>A	ENST00000366676.1	-	3	320	c.321G>T	c.(319-321)ctG>ctT	p.L107L	TAF5L_ENST00000258281.2_Silent_p.L107L|TAF5L_ENST00000366675.3_Silent_p.L107L			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	107					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.L107L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGTTTTGGACCAGGTTGAGAT	0.448																																																2	Substitution - coding silent(2)	kidney(2)											61	59	59					1																	229738593		2203	4300	6503	SO:0001819	synonymous_variant	27097			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.321G>T	1.37:g.229738593C>A			Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	CCDS1581.1																																																																																				0.448	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		A	229738593	C	A	229738593	2	1	391	1	0	0	0	0	0	0	0	1	15534	581	21	4		4	TAF5L	1	229738593	Silent	SNP	C	TCGA-BP-4976-01A-01D-1462-08	24106500	229738593	19512028	7	21550											
LYST	1130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235944201	235944201	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:235944201delA	ENST00000389794.3	-	16	5352	c.5178delT	c.(5176-5178)tttfs	p.F1726fs	LYST_ENST00000389793.2_Frame_Shift_Del_p.F1726fs|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1726					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTTGGTCATAAAAAGTTCTC	0.259																																																0													36	38	38					1																	235944201		2202	4300	6502	SO:0001589	frameshift_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5178delT	1.37:g.235944201delA	ENSP00000374444:p.Phe1726fs		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Del	DEL	ENST00000389794.3	37	CCDS31062.1																																																																																				0.259	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			-	235944201	A	-	235944201	7	5	391	1	0	1	0	1	0	0	0	0	9130	359	13	0	6379	0	LYST	1	235944201	Frame_Shift_Del	DEL	A	TCGA-BP-4976-01A-01D-1462-08	6205608	235944201	13306420	8	21551											
KCNS3	3790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	18113665	18113665	+	Missense_Mutation	SNP	G	G	A	rs150320186		TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:18113665G>A	ENST00000403915.1	+	3	1841	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.D464N	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	464					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.D464N(3)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGGTGAGCGATCCTGACTC	0.453																																																3	Substitution - Missense(3)	ovary(1)|large_intestine(1)|kidney(1)						G	ASN/ASP	0,4406		0,0,2203	123	112	116		1390	5.2	0.4	2	dbSNP_134	116	2,8598	2.2+/-6.3	0,2,4298	no	missense	KCNS3	NM_002252.3	23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	464/492	18113665	2,13004	2203	4300	6503	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1390G>A	2.37:g.18113665G>A	ENSP00000385968:p.Asp464Asn		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	4.513	0.095252	0.08681	0.0	2.33E-4	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97138	-4.26;-4.26	6.07	5.19	0.71726	.	0.658090	0.16144	N	0.227590	D	0.93602	0.7957	N	0.22421	0.69	0.43803	D	0.996355	B	0.10296	0.003	B	0.04013	0.001	D	0.89831	0.3996	10	0.38643	T	0.18	.	15.2363	0.73432	0.0669:0.0:0.9331:0.0	.	464	Q9BQ31	KCNS3_HUMAN	N	464	ENSP00000385968:D464N;ENSP00000305824:D464N	ENSP00000305824:D464N	D	+	1	0	KCNS3	17977146	0.870000	0.30015	0.420000	0.26596	0.987000	0.75469	2.980000	0.49321	1.578000	0.49821	0.655000	0.94253	GAT		0.453	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		A	18113665	G	A	18113665	3	1	391	1	0	0	0	0	1	0	0	0	8092	1058	37	1	1392	1	KCNS3	2	18113665	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08		18113665	225085708	9	21552											
KLRAQ1	129285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48687267	48687267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:48687267G>T	ENST00000294952.8	+	6	731	c.574G>T	c.(574-576)Gaa>Taa	p.E192*	PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.E192*|PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.E192*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	192						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.E192*(2)		endometrium(2)|kidney(4)|lung(9)	15						GGAAGCCAAGGAATGTCGACT	0.438																																																2	Substitution - Nonsense(2)	kidney(2)											93	86	88					2																	48687267		2203	4300	6503	SO:0001587	stop_gained	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.574G>T	2.37:g.48687267G>T	ENSP00000294952:p.Glu192*		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	ENST00000294952.8	37	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	38	6.944760	0.97952	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.4	5.4	0.78164	.	0.295637	0.41500	D	0.000861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-6.8212	19.5244	0.95197	0.0:0.0:1.0:0.0	.	.	.	.	X	192	.	ENSP00000281394:E192X	E	+	1	0	KLRAQ1	48540771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.041000	0.93788	2.693000	0.91896	0.467000	0.42956	GAA		0.438	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		T	48687267	G	T	48687267	4	4	391	1	0	0	0	0	0	1	0	0	8415	1175	41	4	596	4	KLRAQ1	2	48687267	Nonsense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	30573602	48687267	194512106	10	21553											
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141032077	141032077	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:141032077C>A	ENST00000389484.3	-	85	14029	c.13058G>T	c.(13057-13059)gGa>gTa	p.G4353V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4353	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G4353V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATTTTGGTCCTTCATAGCG	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	kidney(1)											187	151	163					2																	141032077		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13058G>T	2.37:g.141032077C>A	ENSP00000374135:p.Gly4353Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.321363|4.321363	0.81580|0.81580	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|D	.|0.96587	.|-4.06	5.36|5.36	4.49|4.49	0.54785|0.54785	.|Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.64402	.|U	.|0.000001	D|D	0.96525|0.96525	0.8866|0.8866	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.55260	.|0.772	D|D	0.96291|0.96291	0.9214|0.9214	5|10	.|0.72032	.|D	.|0.01	.|.	12.3132|12.3132	0.54940|0.54940	0.0:0.9211:0.0:0.0789|0.0:0.9211:0.0:0.0789	.|.	.|4353	.|Q9NZR2	.|LRP1B_HUMAN	Y|V	585;85|4353;4291	.|ENSP00000374135:G4353V	.|ENSP00000374135:G4353V	D|G	-|-	1|2	0|0	LRP1B|LRP1B	140748547|140748547	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.988000|0.988000	0.76386|0.76386	7.818000|7.818000	0.86416|0.86416	1.257000|1.257000	0.44085|0.44085	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141032077	C	A	141032077	3	1	391	1	0	0	0	0	1	0	0	0	8957	855	30	4	769	4	LRP1B	2	141032077	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	92344810	141032077	102167296	11	21554											
UBR3	130507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170863656	170863656	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:170863656A>G	ENST00000272793.5	+	28	4236	c.4186A>G	c.(4186-4188)Ata>Gta	p.I1396V	UBR3_ENST00000418381.1_Missense_Mutation_p.I1396V|UBR3_ENST00000392631.1_Missense_Mutation_p.I217V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1396					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I249V(1)|p.I1396V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ACAAGATCTCATAAAGGAAGT	0.453																																																2	Substitution - Missense(2)	kidney(2)											79	66	70					2																	170863656		2203	4300	6503	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4186A>G	2.37:g.170863656A>G	ENSP00000272793:p.Ile1396Val		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	a	2.491	-0.317355	0.05386	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.0	5.0	0.66597	.	0.098188	0.64402	D	0.000002	T	0.19446	0.0467	N	0.03608	-0.345	0.30023	N	0.814181	B;B;B	0.17465	0.0;0.0;0.022	B;B;B	0.12837	0.0;0.001;0.008	T	0.10590	-1.0623	10	0.26408	T	0.33	.	9.6201	0.39716	0.9099:0.0:0.0901:0.0	.	1396;217;1396	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	V	1396;1396;1396;217;67	ENSP00000272793:I1396V;ENSP00000396068:I1396V;ENSP00000376408:I217V;ENSP00000389097:I67V	ENSP00000272793:I1396V	I	+	1	0	UBR3	170571902	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.369000	0.59511	1.884000	0.54569	0.373000	0.22412	ATA		0.453	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		G	170863656	A	G	170863656	3	3	391	1	0	0	0	0	1	0	0	0	16908	217	8	3	4296	3	UBR3	2	170863656	Missense_Mutation	SNP	A	TCGA-BP-4976-01A-01D-1462-08	29831579	170863656	72335717	12	21555											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179437362	179437362	+	Silent	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:179437362T>A	ENST00000591111.1	-	276	68798	c.68574A>T	c.(68572-68574)ctA>ctT	p.L22858L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.L21931L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L15559L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.L15434L|TTN_ENST00000342175.6_Silent_p.L15626L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.L24499L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22858	Ig-like 117.				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)	p.L15434L(1)|p.L15626L(1)|p.L15559L(1)|p.L21929L(1)|p.L21931L(1)		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)			TTTCTACAGTTAGTATATATT	0.403																																																5	Substitution - coding silent(5)	kidney(5)											71	74	73					2																	179437362		1884	4107	5991	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68574A>T	2.37:g.179437362T>A			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179437362	T	A	179437362	2	1	391	1	0	0	0	0	0	0	0	1	16740	1741	61	5		5	TTN	2	179437362	Silent	SNP	T	TCGA-BP-4976-01A-01D-1462-08	8573706	179437362	63762011	13	21556											
RUFY4	285180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	218954028	218954028	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:218954028A>C	ENST00000344321.7	+	12	2074	c.1556A>C	c.(1555-1557)gAg>gCg	p.E519A	RUFY4_ENST00000374155.3_Missense_Mutation_p.E539A|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	519							metal ion binding (GO:0046872)	p.E519A(1)|p.E539A(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATGGCTCCCGAGTGCTGTGTG	0.567																																																2	Substitution - Missense(2)	kidney(2)											64	67	66					2																	218954028		1969	4152	6121	SO:0001583	missense	285180			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1556A>C	2.37:g.218954028A>C	ENSP00000345900:p.Glu519Ala		Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37		.	.	.	.	.	.	.	.	.	.	G	8.685	0.906052	0.17760	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.76060	-0.99;0.9	4.92	4.03	0.46877	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.124327	0.36628	N	0.002495	T	0.47801	0.1465	N	0.05330	-0.07	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	10	0.09338	T	0.73	-8.3588	6.8517	0.24018	0.094:0.1758:0.7303:0.0	.	519	Q6ZNE9	RUFY4_HUMAN	A	519;539	ENSP00000345900:E519A;ENSP00000363270:E539A	ENSP00000345900:E519A	E	+	2	0	RUFY4	218662273	0.010000	0.17322	0.006000	0.13384	0.145000	0.21501	0.587000	0.23909	0.678000	0.31325	-0.227000	0.12334	GAG		0.567	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		C	218954028	A	C	218954028	3	2	391	1	0	0	0	0	1	0	0	0	13747	304	11	5	1594	5	RUFY4	2	218954028	Missense_Mutation	SNP	A	TCGA-BP-4976-01A-01D-1462-08	39516666	218954028	24245345	14	21557											
DOCK10	55619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225721605	225721605	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:225721605G>C	ENST00000258390.7	-	15	1847	c.1780C>G	c.(1780-1782)Cta>Gta	p.L594V	DOCK10_ENST00000409592.3_Missense_Mutation_p.L588V	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	594					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L594V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTTTAACTAGGTCCTCAGTT	0.313																																																1	Substitution - Missense(1)	kidney(1)											104	101	102					2																	225721605		1824	4082	5906	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1780C>G	2.37:g.225721605G>C	ENSP00000258390:p.Leu594Val		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790058	0.50102	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.02140	4.43;4.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	M	0.84326	2.69	0.46167	D	0.998909	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.996	T	0.00015	-1.2393	10	0.66056	D	0.02	.	10.933	0.47228	0.1137:0.0:0.8863:0.0	.	594;588	Q96BY6;B3FL70	DOC10_HUMAN;.	V	588;594	ENSP00000386694:L588V;ENSP00000258390:L594V	ENSP00000258390:L594V	L	-	1	2	DOCK10	225429849	1.000000	0.71417	0.996000	0.52242	0.221000	0.24807	6.165000	0.71891	2.699000	0.92147	0.579000	0.79373	CTA		0.313	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			C	225721605	G	C	225721605	3	2	391	1	0	0	0	0	1	0	0	0	4687	991	35	4	4948	4	DOCK10	2	225721605	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	6767577	225721605	17477768	15	21558											
BRPF1	7862	broad.mit.edu;hgsc.bcm.edu	37	3	9785380	9785380	+	Silent	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr3:9785380C>G	ENST00000457855.1	+	7	2423	c.2412C>G	c.(2410-2412)ggC>ggG	p.G804G	BRPF1_ENST00000302054.3_Silent_p.G804G|BRPF1_ENST00000383829.2_Silent_p.G810G|BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000433861.2_Silent_p.G804G|BRPF1_ENST00000424362.1_Silent_p.G803G			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	804	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G810G(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGAGTGTGGGCCGCTCACGGC	0.587																																																1	Substitution - coding silent(1)	kidney(1)											35	34	35					3																	9785380		2203	4300	6503	SO:0001819	synonymous_variant	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2412C>G	3.37:g.9785380C>G			B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	CCDS2575.1																																																																																				0.587	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		G	9785380	C	G	9785380	2	3	391	1	0	0	0	0	0	0	0	1	1522	726	26	4		4	BRPF1	3	9785380	Silent	SNP	C	TCGA-BP-4976-01A-01D-1462-08		9785380	188237050	16	21559											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188299	10188306	+	Frame_Shift_Del	DEL	TTTGCCAA	TTTGCCAA	-	rs587780077		TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	TTTGCCAA	TTTGCCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr3:10188299_10188306delTTTGCCAA	ENST00000256474.2	+	2	1282_1289	c.442_449delTTTGCCAA	c.(442-450)tttgccaatfs	p.FAN148fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	148	Involved in binding to CCT complex.		Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.F148fs*11(13)|p.A149fs*26(4)|p.N150fs*9(3)|p.A149fs*24(3)|p.I147fs*11(2)|p.F148fs*25(2)|p.A149fs*25(1)|p.F148fs*9(1)|p.I147fs*25(1)|p.?(1)|p.A149D(1)|p.F148del(1)|p.F148S(1)|p.I147fs*10(1)|p.I147_F148del(1)|p.N150fs*7(1)|p.A149P(1)|p.A149fs*11(1)|p.P146fs*23(1)|p.F148fs*26(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACAGCCTATTTTTGCCAATATCACACTG	0.409		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	42	Deletion - Frameshift(28)|Insertion - Frameshift(7)|Substitution - Missense(3)|Deletion - In frame(2)|Complex - frameshift(1)|Unknown(1)	kidney(41)|adrenal_gland(1)	GRCh37	CD011878|CD951876|CD962179|CI024082|CM951288|CM982010|HD971374	VHL	D|I|M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.442_449delTTTGCCAA	3.37:g.10188299_10188306delTTTGCCAA	ENSP00000256474:p.Phe148fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.409	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188306	TTTGCCAA	-	10188299	7	5	391	1	0	1	0	1	0	0	0	0	17167	1841	64	0	448	0	VHL	3	10188299	Frame_Shift_Del	DEL	TTTGCCAA	TCGA-BP-4976-01A-01D-1462-08	402919	10188299	187834131	17	21560											
VIPR1	7433	broad.mit.edu;hgsc.bcm.edu	37	3	42568970	42568970	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr3:42568970C>T	ENST00000325123.4	+	5	598	c.485C>T	c.(484-486)gCt>gTt	p.A162V	VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.A121V|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.A114V|VIPR1-AS1_ENST00000600342.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	162					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.A162V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GTCGCCACAGCTATCCTGAGC	0.617																																																1	Substitution - Missense(1)	kidney(1)											104	89	94					3																	42568970		2203	4300	6503	SO:0001583	missense	7433			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.485C>T	3.37:g.42568970C>T	ENSP00000327246:p.Ala162Val		A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.274628	0.01410	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000543411;ENST00000439731;ENST00000325123	T;T;T;T;T	0.57107	1.29;0.42;1.29;0.92;1.29	4.81	3.71	0.42584	GPCR, family 2-like (1);	0.390576	0.25765	N	0.028454	T	0.18087	0.0434	N	0.01515	-0.825	0.24720	N	0.993156	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.12156	0.004;0.002;0.007	T	0.32745	-0.9895	10	0.02654	T	1	.	6.5578	0.22469	0.0:0.7287:0.0:0.2713	.	135;114;162	B4DNY6;F5H1F5;P32241	.;.;VIPR1_HUMAN	V	121;121;114;162;162	ENSP00000394950:A121V;ENSP00000415013:A121V;ENSP00000445701:A114V;ENSP00000403478:A162V;ENSP00000327246:A162V	ENSP00000327246:A162V	A	+	2	0	VIPR1	42543974	0.000000	0.05858	0.244000	0.24202	0.281000	0.26958	0.927000	0.28818	2.199000	0.70637	0.655000	0.94253	GCT		0.617	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		T	42568970	C	T	42568970	3	4	391	1	0	0	0	0	1	0	0	0	17174	797	28	2	503	2	VIPR1	3	42568970	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	32380671	42568970	155453460	18	21561											
NBEAL2	23218	broad.mit.edu	37	3	47038048	47038048	+	Silent	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr3:47038048G>A	ENST00000450053.3	+	16	2618	c.2439G>A	c.(2437-2439)ctG>ctA	p.L813L	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.L813L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	813					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L813L(1)|p.L374L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACGAAGCCCTGCAGGCGACGG	0.662																																																2	Substitution - coding silent(2)	kidney(2)											11	13	12					3																	47038048		2065	4183	6248	SO:0001819	synonymous_variant	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2439G>A	3.37:g.47038048G>A			O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	5.206	0.223531	0.09863	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.58	3.66	0.41972	.	.	.	.	.	T	0.63931	0.2553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62324	-0.6878	4	.	.	.	.	12.8914	0.58073	0.0:0.0:0.8376:0.1624	.	.	.	.	Y	285	.	.	C	+	2	0	NBEAL2	47013052	1.000000	0.71417	0.996000	0.52242	0.663000	0.39108	1.308000	0.33528	2.367000	0.80283	0.462000	0.41574	TGC		0.662	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		A	47038048	G	A	47038048	2	1	391	1	0	0	0	0	0	0	0	1	10191	1306	46	2		2	NBEAL2	3	47038048	Silent	SNP	G	TCGA-BP-4976-01A-01D-1462-08	4469078	47038048	150984382	19	21562											
POLR2B	5431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57876947	57876947	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr4:57876947T>G	ENST00000381227.1	+	13	1995	c.1582T>G	c.(1582-1584)Ttg>Gtg	p.L528V	POLR2B_ENST00000314595.5_Missense_Mutation_p.L528V|POLR2B_ENST00000431623.2_Missense_Mutation_p.L453V|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000441246.2_Missense_Mutation_p.L521V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	528					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.L528V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GAATTTAGCCTTGATGGCGTA	0.343																																																1	Substitution - Missense(1)	kidney(1)											123	129	127					4																	57876947		2203	4298	6501	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1582T>G	4.37:g.57876947T>G	ENSP00000370625:p.Leu528Val		A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.779021	0.49891	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.64	2.98	0.34508	RNA polymerase Rpb2, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81086	-0.1092	10	0.87932	D	0	.	8.3866	0.32503	0.0:0.6982:0.0:0.3018	.	453;528	C9J4M6;P30876	.;RPB2_HUMAN	V	528;453;521;528	ENSP00000370625:L528V;ENSP00000391096:L453V;ENSP00000391452:L521V;ENSP00000312735:L528V	ENSP00000312735:L528V	L	+	1	2	POLR2B	57571704	0.833000	0.29383	0.446000	0.26920	0.496000	0.33645	1.650000	0.37292	0.327000	0.23409	-0.248000	0.11899	TTG		0.343	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		G	57876947	T	G	57876947	3	3	391	1	0	0	0	0	1	0	0	0	12217	1606	56	5	1628	5	POLR2B	4	57876947	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08		57876947	133277329	20	21563											
AIMP1	9255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	107252948	107252948	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr4:107252948G>A	ENST00000442366.1	+	5	563	c.511G>A	c.(511-513)Gca>Aca	p.A171T	AIMP1_ENST00000394701.4_Missense_Mutation_p.A195T|AIMP1_ENST00000358008.3_Missense_Mutation_p.A171T	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	171	Interaction with HSP90B1. {ECO:0000250}.|Required for endothelial cell migration.|tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.A171T(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						ACACCCTGATGCAGATTCTTT	0.448																																																1	Substitution - Missense(1)	kidney(1)											203	207	206					4																	107252948		2203	4300	6503	SO:0001583	missense	9255			U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"EMAP II", "ARS-interacting multifunctional protein 1"	603605	"small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.511G>A	4.37:g.107252948G>A	ENSP00000405248:p.Ala171Thr		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Missense_Mutation	SNP	ENST00000442366.1	37	CCDS3674.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355356	0.95854	.	.	ENSG00000164022	ENST00000442366;ENST00000358008;ENST00000394701	T;T;T	0.56103	0.53;0.53;0.48	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	M	0.92507	3.315	0.80722	D	1	D	0.56746	0.977	P	0.48400	0.576	T	0.79990	-0.1570	9	.	.	.	-25.2512	19.3164	0.94215	0.0:0.0:1.0:0.0	.	171	Q12904	AIMP1_HUMAN	T	171;171;195	ENSP00000405248:A171T;ENSP00000350699:A171T;ENSP00000378191:A195T	.	A	+	1	0	AIMP1	107472397	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.040000	0.93783	2.561000	0.86390	0.650000	0.86243	GCA		0.448	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757		A	107252948	G	A	107252948	3	1	391	1	0	0	0	0	1	0	0	0	433	1319	46	2	601	2	AIMP1	4	107252948	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	49376001	107252948	83901328	21	21564											
ZFR	51663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32403288	32403288	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr5:32403288G>A	ENST00000265069.8	-	8	1541	c.1439C>T	c.(1438-1440)aCa>aTa	p.T480I		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	480					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T480I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTGTTAGATGTGCTATTAAG	0.398																																																1	Substitution - Missense(1)	kidney(1)											186	176	179					5																	32403288		2203	4300	6503	SO:0001583	missense	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1439C>T	5.37:g.32403288G>A	ENSP00000265069:p.Thr480Ile		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298029	0.40694	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05081	3.5	5.73	5.73	0.89815	.	0.334642	0.37955	N	0.001869	T	0.05227	0.0139	N	0.14661	0.345	0.26886	N	0.967435	B	0.06786	0.001	B	0.04013	0.001	T	0.32188	-0.9916	10	0.41790	T	0.15	.	15.0228	0.71643	0.0698:0.0:0.9302:0.0	.	480	Q96KR1	ZFR_HUMAN	I	480;458	ENSP00000265069:T480I	ENSP00000265069:T480I	T	-	2	0	ZFR	32439045	0.774000	0.28592	1.000000	0.80357	0.997000	0.91878	3.851000	0.55926	2.709000	0.92574	0.491000	0.48974	ACA		0.398	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			A	32403288	G	A	32403288	3	1	391	1	0	0	0	0	1	0	0	0	17664	1377	48	2	1837	2	ZFR	5	32403288	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08		32403288	148511972	22	21565											
PRLR	5618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	35065723	35065723	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr5:35065723G>A	ENST00000382002.5	-	10	1763	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	PRLR_ENST00000342362.5_Missense_Mutation_p.A345V|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A345V	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	446					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.A446V(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AGTGGCCGGTGCACCTGCAGG	0.507																																																1	Substitution - Missense(1)	kidney(1)											94	100	98					5																	35065723		2203	4300	6503	SO:0001583	missense	5618				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1337C>T	5.37:g.35065723G>A	ENSP00000371432:p.Ala446Val		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	4.253	0.045986	0.08243	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	T;T;T	0.72282	-0.64;-0.64;-0.64	5.16	3.29	0.37713	.	0.784106	0.12522	N	0.461585	T	0.50888	0.1642	N	0.16602	0.42	0.09310	N	1	B;B	0.22800	0.004;0.075	B;B	0.22386	0.013;0.039	T	0.23547	-1.0185	10	0.18710	T	0.47	-1.4278	8.8858	0.35402	0.125:0.2423:0.6327:0.0	.	446;345	P16471;P16471-2	PRLR_HUMAN;.	V	345;446;345	ENSP00000339213:A345V;ENSP00000371432:A446V;ENSP00000422556:A345V	ENSP00000339213:A345V	A	-	2	0	PRLR	35101480	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	0.562000	0.23531	2.690000	0.91761	0.655000	0.94253	GCA		0.507	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			A	35065723	G	A	35065723	3	1	391	1	0	0	0	0	1	0	0	0	12536	1319	46	2	535	2	PRLR	5	35065723	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	2662435	35065723	145849537	23	21566											
TGFBI	7045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	135385220	135385220	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr5:135385220C>G	ENST00000442011.2	+	7	1025	c.864C>G	c.(862-864)atC>atG	p.I288M	TGFBI_ENST00000305126.8_Missense_Mutation_p.I288M	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	288	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.I288M(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGAGAAGATCCCTAGTGAGA	0.567																																																1	Substitution - Missense(1)	kidney(1)											61	65	64					5																	135385220		1997	4155	6152	SO:0001583	missense	7045			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.864C>G	5.37:g.135385220C>G	ENSP00000416330:p.Ile288Met		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.01|16.01	3.001687|3.001687	0.54254|0.54254	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126|ENST00000508767;ENST00000514554	D;D|.	0.90676|.	-2.71;-2.71|.	5.94|5.94	-0.306|-0.306	0.12780|0.12780	FAS1 domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55816|0.55816	0.1944|0.1944	L|L	0.58101|0.58101	1.795|1.795	0.51482|0.51482	D|D	0.999923|0.999923	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.995|.	T|T	0.50250|0.50250	-0.8850|-0.8850	10|5	0.42905|.	T|.	0.14|.	-0.4057|-0.4057	6.4886|6.4886	0.22103|0.22103	0.1098:0.5148:0.0:0.3754|0.1098:0.5148:0.0:0.3754	.|.	21;288|.	B9ZVW9;Q15582|.	.;BGH3_HUMAN|.	M|A	288;21;288|64;6	ENSP00000416330:I288M;ENSP00000306306:I288M|.	ENSP00000306306:I288M|.	I|P	+|+	3|1	3|0	TGFBI|TGFBI	135413119|135413119	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.502000|0.502000	0.33828|0.33828	0.550000|0.550000	0.23345|0.23345	0.122000|0.122000	0.18314|0.18314	0.561000|0.561000	0.74099|0.74099	ATC|CCC		0.567	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			G	135385220	C	G	135385220	3	3	391	1	0	0	0	0	1	0	0	0	15825	845	30	4	890	4	TGFBI	5	135385220	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	100319497	135385220	45530040	24	21567											
DOCK2	1794	broad.mit.edu;ucsc.edu	37	5	169494675	169494675	+	Silent	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr5:169494675C>T	ENST00000256935.8	+	45	4709	c.4629C>T	c.(4627-4629)ttC>ttT	p.F1543F	DOCK2_ENST00000520908.1_Silent_p.F1035F|DOCK2_ENST00000540750.1_Silent_p.F604F|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1543	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.F1543F(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGAGGCTTCGCCAAGTATG	0.552																																																1	Substitution - coding silent(1)	kidney(1)											139	132	134					5																	169494675		2203	4300	6503	SO:0001819	synonymous_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4629C>T	5.37:g.169494675C>T			Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																				0.552	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169494675	C	T	169494675	2	4	391	1	0	0	0	0	0	0	0	1	4689	883	31	1		1	DOCK2	5	169494675	Silent	SNP	C	TCGA-BP-4976-01A-01D-1462-08	34109455	169494675	11420585	25	21568											
GRK6	2870	broad.mit.edu	37	5	176863393	176863393	+	Splice_Site	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr5:176863393G>T	ENST00000355472.5	+	13	1434		c.e13-1		PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000528793.1_Splice_Site|GRK6_ENST00000393576.3_Splice_Site|GRK6_ENST00000355958.5_Splice_Site|GRK6_ENST00000507633.1_Splice_Site	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6						regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.?(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGCCACAGCTCCTCTGCA	0.662																																																1	Unknown(1)	kidney(1)											25	25	25					5																	176863393		2203	4297	6500	SO:0001630	splice_region_variant	2870				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1267-1G>T	5.37:g.176863393G>T			O60541|Q13652	Splice_Site	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365273	0.61513	.	.	ENSG00000198055	ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7341	0.69404	0.0712:0.0:0.9288:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRK6	176795999	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.836000	0.86788	2.625000	0.88918	0.484000	0.47621	.		0.662	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082	Intron	T	176863393	G	T	176863393	5	4	391	1	0	0	0	0	0	0	1	0	6795	985	34	4	1316	4	GRK6	5	176863393	Splice_Site	SNP	G	TCGA-BP-4976-01A-01D-1462-08	7368718	176863393	4051867	26	21569											
PRPF4B	8899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	4032532	4032532	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:4032532G>T	ENST00000337659.6	+	2	881	c.781G>T	c.(781-783)Gat>Tat	p.D261Y	PRPF4B_ENST00000538861.1_Missense_Mutation_p.D247Y	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	261	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D261Y(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCCTACTGATGATAAGGTTAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											107	117	114					6																	4032532		2203	4300	6503	SO:0001583	missense	8899			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.781G>T	6.37:g.4032532G>T	ENSP00000337194:p.Asp261Tyr		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149477	0.57151	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69040	-0.37;-0.36	5.91	5.04	0.67666	.	0.234178	0.36303	N	0.002674	T	0.41213	0.1149	N	0.22421	0.69	0.40983	D	0.984794	B	0.31790	0.34	B	0.33890	0.172	T	0.48714	-0.9011	10	0.48119	T	0.1	.	14.9942	0.71418	0.068:0.0:0.932:0.0	.	261	Q13523	PRP4B_HUMAN	Y	261;247	ENSP00000337194:D261Y;ENSP00000439331:D247Y	ENSP00000337194:D261Y	D	+	1	0	PRPF4B	3977531	1.000000	0.71417	0.248000	0.24265	0.981000	0.71138	5.992000	0.70609	1.494000	0.48533	0.655000	0.94253	GAT		0.353	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			T	4032532	G	T	4032532	3	4	391	1	0	0	0	0	1	0	0	0	12578	1290	45	4	787	4	PRPF4B	6	4032532	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08		4032532	167082535	27	21570											
BAT1	7919	hgsc.bcm.edu	37	6	31504362	31504363	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:31504362_31504363insAG	ENST00000396172.1	-	5	1160_1161	c.530_531insCT	c.(529-531)ctafs	p.L177fs	DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.L177fs|DDX39B_ENST00000449074.2_3'UTR|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.L130fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.L177fs|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.L99fs|DDX39B_ENST00000417556.2_Frame_Shift_Ins_p.L192fs	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	177	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAGCCAGGGCTAGGATACGGCC	0.47																																																0																																										SO:0001589	frameshift_variant	0			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.529_530dupCT	6.37:g.31504363_31504364dupAG	ENSP00000379475:p.Leu177fs		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Frame_Shift_Ins	INS	ENST00000396172.1	37	CCDS4697.1																																																																																				0.47	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		AG	31504363	-	AG	31504362	7	5	391	1	0	1	1	0	0	0	0	0	1318	1509	53	0	783	0	BAT1	6	31504362	Frame_Shift_Ins	INS	-	TCGA-BP-4976-01A-01D-1462-08	27471830	31504362	139610705	28	21571											
SLC26A8	116369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35987387	35987387	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:35987387T>A	ENST00000490799.1	-	2	451	c.98A>T	c.(97-99)gAg>gTg	p.E33V	SLC26A8_ENST00000355574.2_Missense_Mutation_p.E33V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.E33V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.E33V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTGAAAGGTCTCCTCATTGTA	0.498																																																1	Substitution - Missense(1)	kidney(1)											265	194	218					6																	35987387		2203	4300	6503	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.98A>T	6.37:g.35987387T>A	ENSP00000417638:p.Glu33Val			Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933918	0.73442	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.79	4.79	0.61399	.	0.000000	0.48286	D	0.000187	T	0.25827	0.0629	L	0.34521	1.04	0.35234	D	0.777229	D;P	0.89917	1.0;0.933	D;P	0.85130	0.997;0.854	T	0.05257	-1.0896	10	0.42905	T	0.14	.	10.8857	0.46965	0.0:0.0:0.0:1.0	.	33;33	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	V	33;33;33;119	ENSP00000417638:E33V;ENSP00000378100:E33V;ENSP00000347778:E33V;ENSP00000420488:E119V	ENSP00000347778:E33V	E	-	2	0	SLC26A8	36095365	0.998000	0.40836	1.000000	0.80357	0.914000	0.54420	1.956000	0.40382	2.136000	0.66102	0.528000	0.53228	GAG		0.498	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			A	35987387	T	A	35987387	3	1	391	1	0	0	0	0	1	0	0	0	14529	1551	54	5	2890	5	SLC26A8	6	35987387	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08	4483025	35987387	135127680	29	21572											
CPNE5	57699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36742765	36742765	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:36742765C>A	ENST00000244751.2	-	10	1334	c.710G>T	c.(709-711)aGa>aTa	p.R237I		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	237	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.R237I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCAGAGGGCTCTCACGGGAAT	0.522																																																1	Substitution - Missense(1)	kidney(1)											192	156	168					6																	36742765		2203	4300	6503	SO:0001583	missense	57699			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.710G>T	6.37:g.36742765C>A	ENSP00000244751:p.Arg237Ile		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706916	0.68615	.	.	ENSG00000124772	ENST00000244751	T	0.39229	1.09	5.28	5.28	0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	L	0.51914	1.62	0.80722	D	1	P	0.48016	0.904	P	0.52957	0.714	T	0.30031	-0.9992	10	0.51188	T	0.08	.	16.3963	0.83605	0.0:1.0:0.0:0.0	.	237	Q9HCH3	CPNE5_HUMAN	I	237	ENSP00000244751:R237I	ENSP00000244751:R237I	R	-	2	0	CPNE5	36850743	1.000000	0.71417	0.994000	0.49952	0.204000	0.24138	7.373000	0.79623	2.464000	0.83262	0.448000	0.29417	AGA		0.522	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		A	36742765	C	A	36742765	3	1	391	1	0	0	0	0	1	0	0	0	3817	913	32	4	1119	4	CPNE5	6	36742765	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	755378	36742765	134372302	30	21573											
MUT	4594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	49425564	49425564	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:49425564delT	ENST00000274813.3	-	3	720	c.593delA	c.(592-594)aatfs	p.N198fs		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	198					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACTATAAAATTTGCAAGAAC	0.338																																																0													65	63	63					6																	49425564		2203	4300	6503	SO:0001589	frameshift_variant	4594				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.593delA	6.37:g.49425564delT	ENSP00000274813:p.Asn198fs		A8K953|Q5SYZ3|Q96B11|Q9UD64	Frame_Shift_Del	DEL	ENST00000274813.3	37	CCDS4924.1																																																																																				0.338	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			-	49425564	T	-	49425564	7	5	391	1	0	1	0	1	0	0	0	0	9993	1493	52	0	1703	0	MUT	6	49425564	Frame_Shift_Del	DEL	T	TCGA-BP-4976-01A-01D-1462-08	12682799	49425564	121689503	31	21574											
SNX14	57231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	86256928	86256928	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:86256928delA	ENST00000314673.3	-	12	1186	c.1010delT	c.(1009-1011)ttgfs	p.L337fs	SNX14_ENST00000369627.2_Frame_Shift_Del_p.L337fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.L285fs|SNX14_ENST00000513865.1_Frame_Shift_Del_p.L337fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Frame_Shift_Del_p.L293fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	337	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GATTTGCTTCAATTCTAACTT	0.323																																																0													85	76	79					6																	86256928		2203	4300	6503	SO:0001589	frameshift_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1010delT	6.37:g.86256928delA	ENSP00000313121:p.Leu337fs		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Frame_Shift_Del	DEL	ENST00000314673.3	37	CCDS5004.1																																																																																				0.323	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		-	86256928	A	-	86256928	7	5	391	1	0	1	0	1	0	0	0	0	14891	131	5	0	1902	0	SNX14	6	86256928	Frame_Shift_Del	DEL	A	TCGA-BP-4976-01A-01D-1462-08	36831364	86256928	84858139	32	21575											
FNDC1	84624	broad.mit.edu	37	6	159659602	159659602	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:159659602G>A	ENST00000297267.9	+	13	4285	c.4085G>A	c.(4084-4086)cGt>cAt	p.R1362H	FNDC1-IT1_ENST00000419703.1_RNA|FNDC1_ENST00000340366.6_Missense_Mutation_p.R1299H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1362					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1362H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GACCTTGATCGTGGGTTAGTA	0.373																																																1	Substitution - Missense(1)	kidney(1)											101	92	95					6																	159659602		1872	4098	5970	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4085G>A	6.37:g.159659602G>A	ENSP00000297267:p.Arg1362His		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071865	0.76301	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.13901	2.55;3.34	6.03	6.03	0.97812	.	0.256178	0.38959	N	0.001520	T	0.30293	0.0760	L	0.60455	1.87	0.51482	D	0.999924	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00875	-1.1531	10	0.72032	D	0.01	-9.1928	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1299;1362	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	1362;1299	ENSP00000297267:R1362H;ENSP00000342460:R1299H	ENSP00000297267:R1362H	R	+	2	0	FNDC1	159579592	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	5.277000	0.65586	2.861000	0.98227	0.655000	0.94253	CGT		0.373	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		A	159659602	G	A	159659602	3	1	391	1	0	0	0	0	1	0	0	0	5970	1145	40	1	4135	1	FNDC1	6	159659602	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	73402674	159659602	11455465	33	21576											
IGF2R	3482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160461597	160461597	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:160461597G>T	ENST00000356956.1	+	11	1469	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	441					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.D441Y(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGCAGGTAACGATGGGAAAGG	0.463																																																1	Substitution - Missense(1)	kidney(1)											145	126	133					6																	160461597		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1321G>T	6.37:g.160461597G>T	ENSP00000349437:p.Asp441Tyr		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	g	13.13	2.144427	0.37825	.	.	ENSG00000197081	ENST00000356956	T	0.02446	4.29	4.79	2.05	0.26809	Mannose-6-phosphate receptor, binding (1);	0.660669	0.15796	N	0.244196	T	0.03564	0.0102	M	0.64997	1.995	0.09310	N	1	D	0.63046	0.992	P	0.59703	0.862	T	0.32693	-0.9897	10	0.66056	D	0.02	-12.9867	7.794	0.29138	0.3211:0.0:0.6789:0.0	.	441	P11717	MPRI_HUMAN	Y	441	ENSP00000349437:D441Y	ENSP00000349437:D441Y	D	+	1	0	IGF2R	160381587	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.025000	0.12413	0.467000	0.27218	-0.119000	0.15052	GAT		0.463	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		T	160461597	G	T	160461597	3	4	391	1	0	0	0	0	1	0	0	0	7578	1058	37	4	1363	4	IGF2R	6	160461597	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	801995	160461597	10653470	34	21577											
C7orf27	221927	broad.mit.edu;ucsc.edu	37	7	2577853	2577853	+	Silent	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:2577853C>G	ENST00000340611.4	-	14	2572	c.2316G>C	c.(2314-2316)gtG>gtC	p.V772V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	772					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.V772V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCATGGCCAGCACAGCCTCAG	0.706																																																1	Substitution - coding silent(1)	kidney(1)											18	19	18					7																	2577853		2198	4284	6482	SO:0001819	synonymous_variant	0			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.2316G>C	7.37:g.2577853C>G			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	CCDS5334.1																																																																																				0.706	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		G	2577853	C	G	2577853	2	3	391	1	0	0	0	0	0	0	0	1	2384	697	25	4		4	C7orf27	7	2577853	Silent	SNP	C	TCGA-BP-4976-01A-01D-1462-08		2577853	156560810	35	21578											
SFRP4	6424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	37955990	37955990	+	Silent	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:37955990C>A	ENST00000436072.2	-	1	527	c.150G>T	c.(148-150)acG>acT	p.T50T	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	50	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.T50T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGTTCTCCTGCGTGCTGTGGT	0.667																																																1	Substitution - coding silent(1)	kidney(1)											160	128	139					7																	37955990		2203	4300	6503	SO:0001819	synonymous_variant	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.150G>T	7.37:g.37955990C>A			B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	CCDS5453.1																																																																																				0.667	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		A	37955990	C	A	37955990	2	1	391	1	0	0	0	0	0	0	0	1	14169	755	27	4		4	SFRP4	7	37955990	Silent	SNP	C	TCGA-BP-4976-01A-01D-1462-08	35378137	37955990	121182673	36	21579											
SAMD9	54809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92732506	92732506	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:92732506T>G	ENST00000379958.2	-	3	3174	c.2905A>C	c.(2905-2907)Aaa>Caa	p.K969Q		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	969						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.K969Q(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCTCTGTTTTTATCAGAATT	0.398																																																1	Substitution - Missense(1)	kidney(1)											123	120	121					7																	92732506		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2905A>C	7.37:g.92732506T>G	ENSP00000369292:p.Lys969Gln		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	4.000	-0.002772	0.07819	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.21734	1.99;2.79	4.88	1.03	0.20045	.	1.317040	0.05150	N	0.495796	T	0.12178	0.0296	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.28396	-1.0045	10	0.27082	T	0.32	-4.9029	5.7835	0.18320	0.2308:0.0:0.4118:0.3573	.	969	Q5K651	SAMD9_HUMAN	Q	969	ENSP00000369292:K969Q;ENSP00000414529:K969Q	ENSP00000369292:K969Q	K	-	1	0	SAMD9	92570442	0.000000	0.05858	0.975000	0.42487	0.790000	0.44656	0.331000	0.19733	0.863000	0.35553	0.496000	0.49642	AAA		0.398	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		G	92732506	T	G	92732506	3	3	391	1	0	0	0	0	1	0	0	0	13832	1850	64	5	1868	5	SAMD9	7	92732506	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08	54776516	92732506	66406157	37	21580											
IMPDH1	3614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	128049515	128049515	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:128049515T>C	ENST00000338791.6	-	2	520	c.170A>G	c.(169-171)cAc>cGc	p.H57R	IMPDH1_ENST00000419067.2_Missense_Mutation_p.H57R|IMPDH1_ENST00000348127.6_Intron|IMPDH1_ENST00000354269.5_Intron|IMPDH1_ENST00000378717.4_Intron|IMPDH1_ENST00000343214.4_Intron	NM_000883.3	NP_000874.2			IMP (inosine 5'-monophosphate) dehydrogenase 1									p.H57R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TGTCGTCGGGTGTGTAGCGAG	0.557																																																1	Substitution - Missense(1)	kidney(1)											237	257	250					7																	128049515		2203	4300	6503	SO:0001583	missense	3614				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000338791.6:c.170A>G	7.37:g.128049515T>C	ENSP00000345096:p.His57Arg			Missense_Mutation	SNP	ENST00000338791.6	37	CCDS34749.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347738	0.24426	.	.	ENSG00000106348	ENST00000419067;ENST00000338791	T;T	0.16897	2.31;2.32	4.02	1.6	0.23607	.	.	.	.	.	T	0.07638	0.0192	N	0.08118	0	0.25742	N	0.985156	B;B	0.13594	0.008;0.0	B;B	0.11329	0.006;0.0	T	0.30563	-0.9974	9	0.44086	T	0.13	-0.0512	3.597	0.08010	0.0:0.1205:0.2321:0.6475	.	57;57	C9JV30;A4D0Z6	.;.	R	57	ENSP00000399400:H57R;ENSP00000345096:H57R	ENSP00000345096:H57R	H	-	2	0	IMPDH1	127836751	0.003000	0.15002	0.176000	0.23000	0.335000	0.28730	0.233000	0.17911	0.672000	0.31204	0.454000	0.30748	CAC		0.557	IMPDH1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349458.1	NM_000883		C	128049515	T	C	128049515	3	2	391	1	0	0	0	0	1	0	0	0	7728	1696	59	3	1707	3	IMPDH1	7	128049515	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08	35317009	128049515	31089148	38	21581											
PARP12	64761	broad.mit.edu;ucsc.edu	37	7	139754561	139754561	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:139754561delT	ENST00000263549.3	-	4	1636	c.763delA	c.(763-765)agafs	p.R255fs		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	255						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CTGTCTTTTCTTTCTGCAAAG	0.423																																																0													109	99	102					7																	139754561		2203	4300	6503	SO:0001589	frameshift_variant	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.763delA	7.37:g.139754561delT	ENSP00000263549:p.Arg255fs		Q9H610|Q9NP36|Q9NTI3	Frame_Shift_Del	DEL	ENST00000263549.3	37	CCDS5857.1																																																																																				0.423	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		-	139754561	T	-	139754561	7	5	391	1	0	1	0	1	0	0	0	0	11459	1617	56	0	1378	0	PARP12	7	139754561	Frame_Shift_Del	DEL	T	TCGA-BP-4976-01A-01D-1462-08	11705046	139754561	19384102	39	21582											
MLL3	58508	broad.mit.edu	37	7	151962234	151962234	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:151962234A>C	ENST00000262189.6	-	8	1291	c.1073T>G	c.(1072-1074)tTt>tGt	p.F358C	KMT2C_ENST00000355193.2_Missense_Mutation_p.F358C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	358					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F358C(2)									AGTAGTACAAAAGAACTGATC	0.433																																																2	Substitution - Missense(2)	kidney(2)											245	226	233					7																	151962234		2203	4298	6501	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1073T>G	7.37:g.151962234A>C	ENSP00000262189:p.Phe358Cys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.575994	0.28092	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98822	-5.16;-5.16	4.65	3.4	0.38934	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.175556	0.26863	U	0.022104	D	0.96987	0.9016	N	0.17312	0.475	0.80722	D	1	D	0.69078	0.997	P	0.57283	0.817	D	0.96385	0.9284	10	0.59425	D	0.04	.	10.3771	0.44088	0.8535:0.0:0.0:0.1465	.	358	Q8NEZ4	MLL3_HUMAN	C	358	ENSP00000262189:F358C;ENSP00000347325:F358C	ENSP00000262189:F358C	F	-	2	0	MLL3	151593167	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	7.358000	0.79466	1.843000	0.53566	0.455000	0.32223	TTT		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151962234	A	C	151962234	3	2	391	1	0	0	0	0	1	0	0	0	9624	14	1	5	13870	5	MLL3	7	151962234	Missense_Mutation	SNP	A	TCGA-BP-4976-01A-01D-1462-08	12207673	151962234	7176429	40	21583											
FAM86B1	85002	broad.mit.edu	37	8	12044016	12044016	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:12044016T>A	ENST00000448228.2	-	5	534	c.485A>T	c.(484-486)cAg>cTg	p.Q162L	FAM86B1_ENST00000321602.8_Intron|FAM86B1_ENST00000534520.1_Intron|FAM86B1_ENST00000533852.2_Missense_Mutation_p.Q196L|FAM86B1_ENST00000533513.1_3'UTR	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	162								p.Q196L(1)		kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CCCTCGGAGCTGCTCGAGGAC	0.617																																																1	Substitution - Missense(1)	kidney(1)											39	43	42					8																	12044016		1489	2646	4135	SO:0001583	missense	85002			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.485A>T	8.37:g.12044016T>A	ENSP00000407067:p.Gln162Leu			Missense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.	.	.	.	.	.	.	.	.	.	-	11.47	1.647751	0.29336	.	.	ENSG00000186523	ENST00000431227;ENST00000448228;ENST00000526708	T	0.04234	3.67	1.17	1.17	0.20885	.	.	.	.	.	T	0.06872	0.0175	N	0.16368	0.405	0.80722	D	1	P;D	0.67145	0.952;0.996	P;D	0.68765	0.777;0.96	T	0.51849	-0.8653	9	0.25106	T	0.35	.	6.488	0.22099	0.0:0.0:0.0:1.0	.	162;196	Q8N7N1;E9PN63	F86B1_HUMAN;.	L	196;162;196	ENSP00000407067:Q162L	ENSP00000444227:Q196L	Q	-	2	0	FAM86B1	12081425	1.000000	0.71417	0.321000	0.25320	0.215000	0.24574	2.416000	0.44644	0.788000	0.33755	0.145000	0.16022	CAG		0.617	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916		A	12044016	T	A	12044016	3	1	391	1	0	0	0	0	1	0	0	0	5646	1580	55	5	417	5	FAM86B1	8	12044016	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08		12044016	134320006	41	21584											
DLC1	10395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	12950255	12950255	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:12950255C>G	ENST00000276297.4	-	13	4015	c.3606G>C	c.(3604-3606)caG>caC	p.Q1202H	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.Q765H|DLC1_ENST00000520226.1_Missense_Mutation_p.Q691H|DLC1_ENST00000512044.2_Missense_Mutation_p.Q799H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1202	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.Q1202H(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAAGCAGGGTCTGCAGAACCT	0.572																																																1	Substitution - Missense(1)	kidney(1)											84	71	76					8																	12950255		2203	4300	6503	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3606G>C	8.37:g.12950255C>G	ENSP00000276297:p.Gln1202His		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677576	0.88445	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.98	4.98	0.66077	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.064545	0.64402	D	0.000003	T	0.36166	0.0957	L	0.43757	1.38	0.80722	D	1	B;D;D	0.89917	0.07;1.0;0.966	B;D;P	0.74023	0.087;0.982;0.647	T	0.02047	-1.1223	10	0.56958	D	0.05	.	12.1996	0.54317	0.0:0.9222:0.0:0.0778	.	1202;799;765	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	H	1202;765;141;799;691	ENSP00000276297:Q1202H;ENSP00000351797:Q765H;ENSP00000422595:Q799H;ENSP00000428028:Q691H	ENSP00000276297:Q1202H	Q	-	3	2	DLC1	12994626	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.601000	0.46249	2.770000	0.95276	0.655000	0.94253	CAG		0.572	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		G	12950255	C	G	12950255	3	3	391	1	0	0	0	0	1	0	0	0	4552	912	32	4	1004	4	DLC1	8	12950255	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	906239	12950255	133413767	42	21585											
PLEKHA2	59339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38775521	38775521	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:38775521T>A	ENST00000521746.1	+	2	308	c.74T>A	c.(73-75)tTt>tAt	p.F25Y	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000420274.1_Missense_Mutation_p.F25Y			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	25	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)	p.F25Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			AGCGGCAAGTTTCTGCGGAGG	0.567																																																1	Substitution - Missense(1)	kidney(1)											117	120	119					8																	38775521		2061	4221	6282	SO:0001583	missense	59339			AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"Pleckstrin homology (PH) domain containing"	14336	protein-coding gene	gene with protein product	"tandem PH Domain containing protein-2"	607773	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.74T>A	8.37:g.38775521T>A	ENSP00000430938:p.Phe25Tyr			Missense_Mutation	SNP	ENST00000521746.1	37		.	.	.	.	.	.	.	.	.	.	T	32	5.106794	0.94292	.	.	ENSG00000169499	ENST00000521746;ENST00000420274;ENST00000519640	T;T;T	0.74002	-0.8;-0.8;-0.8	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.67397	2.05	0.80722	D	1	D	0.61697	0.99	D	0.77557	0.99	D	0.86393	0.1737	10	0.72032	D	0.01	.	15.3992	0.74823	0.0:0.0:0.0:1.0	.	25	A8K727	.	Y	25	ENSP00000430938:F25Y;ENSP00000393860:F25Y;ENSP00000429956:F25Y	ENSP00000393860:F25Y	F	+	2	0	PLEKHA2	38894678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.246000	0.72405	2.045000	0.60652	0.514000	0.50259	TTT		0.567	PLEKHA2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000377068.1	NM_021623		A	38775521	T	A	38775521	3	1	391	1	0	0	0	0	1	0	0	0	12058	1841	64	5	76	5	PLEKHA2	8	38775521	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08	25825266	38775521	107588501	43	21586											
WWP1	11059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87464827	87464827	+	Silent	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:87464827A>G	ENST00000517970.1	+	21	2620	c.2313A>G	c.(2311-2313)gaA>gaG	p.E771E	WWP1_ENST00000341922.2_Silent_p.E641E|WWP1_ENST00000349423.2_Silent_p.E553E|WWP1_ENST00000265428.4_Silent_p.E771E	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	771	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E771E(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GAGTACAAGAACAGACCAAAG	0.318																																																1	Substitution - coding silent(1)	kidney(1)											113	111	112					8																	87464827		2203	4300	6503	SO:0001819	synonymous_variant	11059			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2313A>G	8.37:g.87464827A>G			O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	CCDS6242.1																																																																																				0.318	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		G	87464827	A	G	87464827	2	3	391	1	0	0	0	0	0	0	0	1	17420	40	2	3		3	WWP1	8	87464827	Silent	SNP	A	TCGA-BP-4976-01A-01D-1462-08	48689306	87464827	58899195	44	21587											
MED30	90390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	118552190	118552190	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:118552190delA	ENST00000297347.3	+	4	674	c.510delA	c.(508-510)atafs	p.I170fs	MED30_ENST00000522839.1_Frame_Shift_Del_p.I135fs	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	170					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			TCTGGGATATAAATGCCATGT	0.313																																					Melanoma(81;817 1341 9674 26244 29255)											0													60	60	60					8																	118552190		2203	4297	6500	SO:0001589	frameshift_variant	90390			AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"thyroid hormone receptor associated protein 6"	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.510delA	8.37:g.118552190delA	ENSP00000297347:p.Ile170fs		C6GKU9	Frame_Shift_Del	DEL	ENST00000297347.3	37	CCDS6323.1																																																																																				0.313	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		-	118552190	A	-	118552190	7	5	391	1	0	1	0	1	0	0	0	0	9450	352	13	0	524	0	MED30	8	118552190	Frame_Shift_Del	DEL	A	TCGA-BP-4976-01A-01D-1462-08	31087363	118552190	27811832	45	21588											
ZNF16	7564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	146156465	146156465	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:146156465G>T	ENST00000276816.4	-	4	1894	c.1708C>A	c.(1708-1710)Ctg>Atg	p.L570M	ZNF16_ENST00000394909.2_Missense_Mutation_p.L570M	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	570					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L570M(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGGGGCTTCAGCCCATTATGA	0.473																																																1	Substitution - Missense(1)	kidney(1)											75	74	74					8																	146156465		2203	4300	6503	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1708C>A	8.37:g.146156465G>T	ENSP00000276816:p.Leu570Met		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331070	0.41297	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.17854	2.25;2.25	4.0	-0.248	0.13015	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21347	0.0514	N	0.21194	0.64	0.20764	N	0.99986	D	0.76494	0.999	D	0.71414	0.973	T	0.13980	-1.0489	9	0.87932	D	0	.	5.1657	0.15084	0.4386:0.3528:0.2085:0.0	.	570	P17020	ZNF16_HUMAN	M	570	ENSP00000276816:L570M;ENSP00000378369:L570M	ENSP00000276816:L570M	L	-	1	2	ZNF16	146127269	0.285000	0.24296	0.944000	0.38274	0.863000	0.49368	0.923000	0.28757	0.118000	0.18165	-0.379000	0.06801	CTG		0.473	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		T	146156465	G	T	146156465	3	4	391	1	0	0	0	0	1	0	0	0	17743	962	34	4	344	4	ZNF16	8	146156465	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	27604275	146156465	207557	46	21589											
JAK2	3717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	5073717	5073717	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr9:5073717G>T	ENST00000381652.3	+	14	2290	c.1796G>T	c.(1795-1797)aGt>aTt	p.S599I	JAK2_ENST00000539801.1_Missense_Mutation_p.S599I|JAK2_ENST00000544510.1_Missense_Mutation_p.S450I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	599	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.S599I(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GAAGCAGCAAGTATGATGAGC	0.338		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	1	Substitution - Missense(1)	kidney(1)											109	121	117					9																	5073717		2203	4299	6502	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1796G>T	9.37:g.5073717G>T	ENSP00000371067:p.Ser599Ile		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758773	0.89843	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.83506	-1.73;-1.73;-1.73	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90113	0.6911	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90662	0.4591	10	0.87932	D	0	-14.1552	19.4075	0.94653	0.0:0.0:1.0:0.0	.	599	O60674	JAK2_HUMAN	I	599;599;450	ENSP00000440387:S599I;ENSP00000371067:S599I;ENSP00000443103:S450I	ENSP00000371067:S599I	S	+	2	0	JAK2	5063717	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.388000	0.97237	2.583000	0.87209	0.591000	0.81541	AGT		0.338	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			T	5073717	G	T	5073717	3	4	391	1	0	0	0	0	1	0	0	0	7940	1029	36	4	1842	4	JAK2	9	5073717	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08		5073717	136139714	47	21590											
FBXO18	84893	hgsc.bcm.edu;ucsc.edu	37	10	5967396	5967404	+	In_Frame_Del	DEL	ATTTTGTGA	ATTTTGTGA	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	ATTTTGTGA	ATTTTGTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:5967396_5967404delATTTTGTGA	ENST00000362091.4	+	18	2778_2786	c.2663_2671delATTTTGTGA	c.(2662-2673)gattttgtgaaa>gaa	p.888_891DFVK>E	FBXO18_ENST00000379999.5_In_Frame_Del_p.939_942DFVK>E|FBXO18_ENST00000397269.3_In_Frame_Del_p.392_395DFVK>E	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	888					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GTTTTGGATGATTTTGTGAAAGTGCCTTG	0.512																																																0																																										SO:0001651	inframe_deletion	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2663_2671delATTTTGTGA	10.37:g.5967396_5967404delATTTTGTGA	ENSP00000355415:p.Asp888_Lys891delinsGlu		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	In_Frame_Del	DEL	ENST00000362091.4	37	CCDS7072.1																																																																																				0.512	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		-	5967404	ATTTTGTGA	-	5967396	7	5	391	1	0	1	0	1	0	0	0	0	5733	333	12	0	2895	0	FBXO18	10	5967396	In_Frame_Del	DEL	ATTTTGTGA	TCGA-BP-4976-01A-01D-1462-08		5967396	129567351	48	21591											
ITIH2	3698	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	7759749	7759749	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:7759749G>C	ENST00000358415.4	+	6	794	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	ITIH2_ENST00000379587.4_Missense_Mutation_p.E199Q|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	210					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E210Q(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAAACACTTAGAGGTAAGCCT	0.507																																																1	Substitution - Missense(1)	kidney(1)											119	114	116					10																	7759749		2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.628G>C	10.37:g.7759749G>C	ENSP00000351190:p.Glu210Gln		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169259	0.38315	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.18016	4.88;2.24;4.87	5.47	5.47	0.80525	.	0.052420	0.85682	D	0.000000	T	0.19366	0.0465	L	0.41124	1.26	0.48511	D	0.999668	P	0.46220	0.874	B	0.42692	0.395	T	0.01424	-1.1358	10	0.25751	T	0.34	-32.4592	19.3388	0.94332	0.0:0.0:1.0:0.0	.	210	P19823	ITIH2_HUMAN	Q	210;185;199	ENSP00000351190:E210Q;ENSP00000388826:E185Q;ENSP00000368906:E199Q	ENSP00000351190:E210Q	E	+	1	0	ITIH2	7799755	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	4.067000	0.57527	2.553000	0.86117	0.655000	0.94253	GAG		0.507	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		C	7759749	G	C	7759749	3	2	391	1	0	0	0	0	1	0	0	0	7906	943	33	4	650	4	ITIH2	10	7759749	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	1792353	7759749	127774998	49	21592											
SEPHS1	22929	broad.mit.edu;hgsc.bcm.edu	37	10	13386847	13386848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:13386847_13386848insG	ENST00000327347.5	-	2	478_479	c.103_104insC	c.(103-105)caafs	p.Q35fs	SEPHS1_ENST00000545675.1_Frame_Shift_Ins_p.Q35fs|SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000378614.4_Frame_Shift_Ins_p.Q35fs	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	35					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CAGGACATCTTGGGGCACTTTG	0.495																																																0																																										SO:0001589	frameshift_variant	22929			BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.104dupC	10.37:g.13386851_13386851dupG	ENSP00000367893:p.Gln35fs		B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Frame_Shift_Ins	INS	ENST00000327347.5	37	CCDS7098.1																																																																																				0.495	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		G	13386848	-	G	13386847	7	5	391	1	0	1	1	0	0	0	0	0	14060	1812	63	0	1106	0	SEPHS1	10	13386847	Frame_Shift_Ins	INS	-	TCGA-BP-4976-01A-01D-1462-08	5627098	13386847	122147900	50	21593											
FAM21C	253725	broad.mit.edu	37	10	46272804	46272804	+	Silent	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:46272804G>A	ENST00000336378.4	+	22	2338	c.2220G>A	c.(2218-2220)gtG>gtA	p.V740V	FAM21C_ENST00000374362.2_Silent_p.V742V|FAM21C_ENST00000537517.1_Intron|FAM21C_ENST00000359860.4_Silent_p.V684V|FAM21C_ENST00000540872.1_Silent_p.V742V	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	740					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.V739V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGAAGTCTGTGGATAAGAAGG	0.423																																																1	Substitution - coding silent(1)	kidney(1)											134	133	133					10																	46272804		1816	4046	5862	SO:0001819	synonymous_variant	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2220G>A	10.37:g.46272804G>A			B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Silent	SNP	ENST00000336378.4	37																																																																																					0.423	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				A	46272804	G	A	46272804	2	1	391	1	0	0	0	0	0	0	0	1	5544	1335	47	2		2	FAM21C	10	46272804	Silent	SNP	G	TCGA-BP-4976-01A-01D-1462-08	32885957	46272804	89261943	51	21594											
SEC24C	9632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75520026	75520026	+	Silent	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:75520026C>T	ENST00000339365.2	+	6	894	c.732C>T	c.(730-732)ccC>ccT	p.P244P	SEC24C_ENST00000546025.1_Silent_p.P102P|SEC24C_ENST00000345254.4_Silent_p.P244P|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.P102P|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	244					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.P244P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGAGCCAGCCCAACCATGTGT	0.642																																																1	Substitution - coding silent(1)	kidney(1)											78	82	80					10																	75520026		2203	4300	6503	SO:0001819	synonymous_variant	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.732C>T	10.37:g.75520026C>T			B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	CCDS7332.1																																																																																				0.642	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			T	75520026	C	T	75520026	2	4	391	1	0	0	0	0	0	0	0	1	14002	581	21	2		2	SEC24C	10	75520026	Silent	SNP	C	TCGA-BP-4976-01A-01D-1462-08	29247222	75520026	60014721	52	21595											
ADAM12	8038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	127824195	127824195	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:127824195T>A	ENST00000368679.4	-	5	692	c.383A>T	c.(382-384)tAt>tTt	p.Y128F	ADAM12_ENST00000368676.4_Missense_Mutation_p.Y128F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	128					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.Y128F(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGAATCAGAATATCCCCGTAC	0.468																																																3	Substitution - Missense(3)	kidney(3)											159	121	133					10																	127824195		2203	4300	6503	SO:0001583	missense	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.383A>T	10.37:g.127824195T>A	ENSP00000357668:p.Tyr128Phe		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	T	2.055	-0.416683	0.04766	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.05996	3.36;3.36;3.36	3.96	1.5	0.22942	Peptidase M12B, propeptide (1);	0.458554	0.21583	N	0.072207	T	0.04543	0.0124	N	0.21583	0.68	0.09310	N	1	P;P;P;P;B	0.45078	0.85;0.82;0.82;0.82;0.009	P;B;B;B;B	0.45971	0.499;0.366;0.366;0.366;0.006	T	0.33085	-0.9882	10	0.09843	T	0.71	.	5.7774	0.18287	0.1588:0.0:0.3288:0.5124	.	125;125;128;125;128	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	F	128;128;125	ENSP00000357668:Y128F;ENSP00000357665:Y128F;ENSP00000391268:Y125F	ENSP00000357665:Y128F	Y	-	2	0	ADAM12	127814185	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	0.499000	0.22546	0.111000	0.17947	0.402000	0.26972	TAT		0.468	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			A	127824195	T	A	127824195	3	1	391	1	0	0	0	0	1	0	0	0	236	1406	49	5	2530	5	ADAM12	10	127824195	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08	52304169	127824195	7710552	53	21596											
FAM160A2	84067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6233063	6233063	+	Silent	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:6233063G>T	ENST00000449352.2	-	12	2855	c.2592C>A	c.(2590-2592)ctC>ctA	p.L864L	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_Silent_p.L878L			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	864					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.L878L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATGCCGCAGGAGTAACTCCC	0.617																																																1	Substitution - coding silent(1)	kidney(1)											95	105	101					11																	6233063		2200	4295	6495	SO:0001819	synonymous_variant	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2592C>A	11.37:g.6233063G>T			Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	CCDS44530.1																																																																																				0.617	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		T	6233063	G	T	6233063	2	4	391	1	0	0	0	0	0	0	0	1	5471	1161	41	4		4	FAM160A2	11	6233063	Silent	SNP	G	TCGA-BP-4976-01A-01D-1462-08		6233063	128773453	54	21597											
CTNND1	1500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57571149	57571149	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:57571149G>A	ENST00000399050.4	+	8	2013	c.1477G>A	c.(1477-1479)Gca>Aca	p.A493T	CTNND1_ENST00000524630.1_Missense_Mutation_p.A493T|CTNND1_ENST00000426142.2_Missense_Mutation_p.A392T|CTNND1_ENST00000358694.6_Missense_Mutation_p.A493T|CTNND1_ENST00000534579.1_Missense_Mutation_p.A439T|CTNND1_ENST00000361332.4_Missense_Mutation_p.A493T|CTNND1_ENST00000526938.1_Missense_Mutation_p.A493T|CTNND1_ENST00000529873.1_Missense_Mutation_p.A439T|CTNND1_ENST00000529986.1_Missense_Mutation_p.A392T|CTNND1_ENST00000528232.1_Missense_Mutation_p.A392T|CTNND1_ENST00000532463.1_Missense_Mutation_p.A392T|CTNND1_ENST00000415361.2_Missense_Mutation_p.A392T|CTNND1_ENST00000361391.6_Missense_Mutation_p.A493T|CTNND1_ENST00000531014.1_Missense_Mutation_p.A170T|CTNND1_ENST00000530748.1_Missense_Mutation_p.A439T|CTNND1_ENST00000529919.1_Missense_Mutation_p.A493T|CTNND1_ENST00000526772.1_Missense_Mutation_p.A170T|CTNND1_ENST00000428599.2_Missense_Mutation_p.A493T|CTNND1_ENST00000399039.4_Missense_Mutation_p.A493T|CTNND1_ENST00000532787.1_Missense_Mutation_p.A392T|CTNND1_ENST00000528621.1_Missense_Mutation_p.A439T|CTNND1_ENST00000530094.1_Missense_Mutation_p.A392T|CTNND1_ENST00000525902.1_Missense_Mutation_p.A170T|CTNND1_ENST00000533667.1_Missense_Mutation_p.A170T|CTNND1_ENST00000532649.1_Missense_Mutation_p.A439T|CTNND1_ENST00000532844.1_Missense_Mutation_p.A439T|CTNND1_ENST00000532245.1_Missense_Mutation_p.A392T|CTNND1_ENST00000526357.1_Missense_Mutation_p.A439T|CTNND1_ENST00000361796.4_Missense_Mutation_p.A493T|CTNND1_ENST00000527467.1_Missense_Mutation_p.A170T|CTNND1_ENST00000529526.1_Missense_Mutation_p.A439T|CTNND1_ENST00000360682.6_Missense_Mutation_p.A493T	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	493					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.A493T(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGTGGACCATGCACTGCATGC	0.468																																																2	Substitution - Missense(2)	kidney(2)											99	91	93					11																	57571149		1975	4163	6138	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1477G>A	11.37:g.57571149G>A	ENSP00000382004:p.Ala493Thr		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	36	5.690259	0.96793	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.63208	1.945	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.996;0.998;0.998;0.998;0.986;0.998;0.996	T	0.67277	-0.5711	10	0.52906	T	0.07	-2.9148	19.3681	0.94473	0.0:0.0:1.0:0.0	.	493;493;493;392;439;439;493;493;493	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	T	493;493;493;493;493;439;392;493;493;493;392;392;493;392;170;439;439;439;493;170;392;170;170;439;170;439;439;392;392;392;439;493	ENSP00000436543:A493T;ENSP00000434808:A493T;ENSP00000381996:A493T;ENSP00000353902:A493T;ENSP00000354907:A493T;ENSP00000436323:A439T;ENSP00000409930:A392T;ENSP00000382004:A493T;ENSP00000354785:A493T;ENSP00000354823:A493T;ENSP00000432075:A392T;ENSP00000437156:A392T;ENSP00000351527:A493T;ENSP00000434949:A392T;ENSP00000437051:A170T;ENSP00000435379:A439T;ENSP00000432243:A439T;ENSP00000436744:A439T;ENSP00000413586:A493T;ENSP00000434900:A170T;ENSP00000435266:A392T;ENSP00000432623:A170T;ENSP00000433158:A170T;ENSP00000435494:A439T;ENSP00000434672:A170T;ENSP00000433276:A439T;ENSP00000433334:A439T;ENSP00000437327:A392T;ENSP00000403518:A392T;ENSP00000434017:A392T;ENSP00000435789:A439T;ENSP00000432041:A493T	ENSP00000351527:A493T	A	+	1	0	CTNND1	57327725	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	GCA		0.468	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		A	57571149	G	A	57571149	3	1	391	1	0	0	0	0	1	0	0	0	4021	1319	46	2	1499	2	CTNND1	11	57571149	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	51338086	57571149	77435367	55	21598											
SLC15A3	51296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60714170	60714170	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:60714170G>T	ENST00000227880.3	-	2	915	c.682C>A	c.(682-684)Ctg>Atg	p.L228M		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	228					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.L228M(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CTGTAGCCCAGCAGGAAGCTG	0.572																																																1	Substitution - Missense(1)	kidney(1)											106	102	103					11																	60714170		2203	4299	6502	SO:0001583	missense	51296			AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.682C>A	11.37:g.60714170G>T	ENSP00000227880:p.Leu228Met		Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	CCDS7998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.16|18.16	3.563032|3.563032	0.65538|0.65538	.|.	.|.	ENSG00000110446|ENSG00000110446	ENST00000442626|ENST00000227880;ENST00000536491;ENST00000538739	.|T;T;T	.|0.06449	.|3.3;3.3;3.3	4.55|4.55	-1.54|-1.54	0.08584|0.08584	.|Major facilitator superfamily domain, general substrate transporter (1);	.|1.318910	.|0.05341	.|N	.|0.530061	.|T	.|0.16685	.|0.0401	M|M	0.62723|0.62723	1.935|1.935	0.19575|0.19575	N|N	0.999964|0.999964	.|D;P	.|0.53619	.|0.961;0.81	.|P;P	.|0.62740	.|0.906;0.622	.|T	.|0.26985	.|-1.0087	.|10	0.28530|0.48119	T|T	0.3|0.1	-0.0121|-0.0121	5.2514|5.2514	0.15524|0.15524	0.0811:0.4838:0.2273:0.2079|0.0811:0.4838:0.2273:0.2079	.|.	.|228;228	.|F5H1C8;Q8IY34	.|.;S15A3_HUMAN	X|M	227|228;41;95	.|ENSP00000227880:L228M;ENSP00000439535:L41M;ENSP00000441559:L95M	ENSP00000403318:C227X|ENSP00000227880:L228M	C|L	-|-	3|1	2|2	SLC15A3|SLC15A3	60470746|60470746	0.001000|0.001000	0.12720|0.12720	0.993000|0.993000	0.49108|0.49108	0.997000|0.997000	0.91878|0.91878	-0.232000|-0.232000	0.09055|0.09055	-0.039000|-0.039000	0.13602|0.13602	0.591000|0.591000	0.81541|0.81541	TGC|CTG		0.572	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		T	60714170	G	T	60714170	3	4	391	1	0	0	0	0	1	0	0	0	14406	962	34	4	1091	4	SLC15A3	11	60714170	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	3143021	60714170	74292346	56	21599											
ZNHIT2	741	hgsc.bcm.edu;ucsc.edu	37	11	64883959	64883959	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:64883959delG	ENST00000310597.4	-	1	1211	c.1167delC	c.(1165-1167)cccfs	p.P389fs	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	389							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CAGGTGGCACGGGGCCTCCCC	0.617																																																0													69	74	72					11																	64883959		2201	4297	6498	SO:0001589	frameshift_variant	741				CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"Zinc fingers, HIT-type"	1177	protein-coding gene	gene with protein product		604575	"chromosome 11 open reading frame 5", "zinc finger, HIT domain containing 2"	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.1167delC	11.37:g.64883959delG	ENSP00000308548:p.Pro389fs		Q3SY14|Q8IUV0	Frame_Shift_Del	DEL	ENST00000310597.4	37	CCDS8094.1																																																																																				0.617	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		-	64883959	G	-	64883959	7	5	391	1	0	1	0	1	0	0	0	0	18212	1103	39	0	48	0	ZNHIT2	11	64883959	Frame_Shift_Del	DEL	G	TCGA-BP-4976-01A-01D-1462-08	4169789	64883959	70122557	57	21600											
MUS81	80198	broad.mit.edu	37	11	65629418	65629418	+	Splice_Site	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:65629418G>C	ENST00000308110.4	+	4	701	c.352G>C	c.(352-354)Gtt>Ctt	p.V118L	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Splice_Site_p.V43L|CFL1_ENST00000531413.1_5'Flank|CFL1_ENST00000525451.2_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	118					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V118L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TACCTTTCAGGTTCCTGCCCA	0.572								Homologous recombination																																								1	Substitution - Missense(1)	kidney(1)											27	24	25					11																	65629418		2196	4297	6493	SO:0001630	splice_region_variant	80198				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.352-1G>C	11.37:g.65629418G>C			Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.42|11.42	1.634687|1.634687	0.29068|0.29068	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000529857;ENST00000533035;ENST00000308110;ENST00000437855;ENST00000525768	.|T;T;T;T	.|0.31769	.|1.48;2.57;2.78;1.91	4.97|4.97	0.402|0.402	0.16344|0.16344	.|.	.|1.544010	.|0.03444	.|N	.|0.209656	T|T	0.21227|0.21227	0.0511|0.0511	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.12837	.|0.008	T|T	0.17745|0.17745	-1.0359|-1.0359	5|10	.|0.07990	.|T	.|0.79	-0.1749|-0.1749	7.6128|7.6128	0.28139|0.28139	0.4553:0.0:0.5447:0.0|0.4553:0.0:0.5447:0.0	.|.	.|118	.|Q96NY9	.|MUS81_HUMAN	T|L	42;13|183;43;118;118;43	.|ENSP00000431979:V183L;ENSP00000432287:V43L;ENSP00000307853:V118L;ENSP00000431478:V43L	.|ENSP00000307853:V118L	S|V	+|+	2|1	0|0	MUS81|MUS81	65385994|65385994	0.377000|0.377000	0.25106|0.25106	0.006000|0.006000	0.13384|0.13384	0.266000|0.266000	0.26442|0.26442	0.344000|0.344000	0.19962|0.19962	0.117000|0.117000	0.18138|0.18138	0.561000|0.561000	0.74099|0.74099	AGT|GTT		0.572	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128	Missense_Mutation	C	65629418	G	C	65629418	5	2	391	1	0	0	0	0	0	0	1	0	9990	1275	44	4	366	4	MUS81	11	65629418	Splice_Site	SNP	G	TCGA-BP-4976-01A-01D-1462-08	745459	65629418	69377098	58	21601											
GPR152	390212	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	67219269	67219269	+	Silent	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:67219269C>A	ENST00000312457.2	-	1	931	c.927G>T	c.(925-927)gtG>gtT	p.V309V	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V309V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGGACGAGAGCACGGAGCGCA	0.647																																					Pancreas(102;800 1581 2723 7382 33622)											1	Substitution - coding silent(1)	kidney(1)											56	55	55					11																	67219269		2200	4295	6495	SO:0001819	synonymous_variant	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.927G>T	11.37:g.67219269C>A			Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	CCDS8165.1																																																																																				0.647	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			A	67219269	C	A	67219269	2	1	391	1	0	0	0	0	0	0	0	1	6660	697	25	4		4	GPR152	11	67219269	Silent	SNP	C	TCGA-BP-4976-01A-01D-1462-08	1589851	67219269	67787247	59	21602											
PPFIA1	8500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	70201888	70201888	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:70201888G>A	ENST00000253925.7	+	18	2674	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E	AP000487.6_ENST00000528607.1_RNA|AP000487.4_ENST00000324630.5_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.G820E	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	820					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.G820E(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGCCGACCTGGACAAACTGGC	0.542																																																1	Substitution - Missense(1)	kidney(1)											96	99	98					11																	70201888		2200	4294	6494	SO:0001583	missense	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2459G>A	11.37:g.70201888G>A	ENSP00000253925:p.Gly820Glu		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.96|12.96|12.96	2.094190|2.094190|2.094190	0.36952|0.36952|0.36952	.|.|.	.|.|.	ENSG00000131626|ENSG00000131626|ENSG00000131626	ENST00000528750|ENST00000253925;ENST00000389547;ENST00000544950|ENST00000530798	.|T;T|.	.|0.17691|.	.|2.26;2.26|.	5.3|5.3|5.3	4.39|4.39|4.39	0.52855|0.52855|0.52855	.|.|.	.|0.138957|.	.|0.49305|.	.|U|.	.|0.000160|.	T|T|.	0.66684|0.66684|.	0.2814|0.2814|.	L|L|L	0.48642|0.48642|0.48642	1.525|1.525|1.525	0.41796|0.41796|0.41796	D|D|D	0.989896|0.989896|0.989896	.|B;B|.	.|0.25904|.	.|0.137;0.136|.	.|B;B|.	.|0.29524|.	.|0.103;0.073|.	T|T|.	0.65405|0.65405|.	-0.6176|-0.6176|.	5|10|.	.|0.56958|.	.|D|.	.|0.05|.	.|.|.	16.3581|16.3581|16.3581	0.83244|0.83244|0.83244	0.0:0.1321:0.8679:0.0|0.0:0.1321:0.8679:0.0|0.0:0.1321:0.8679:0.0	.|.|.	.|820;820|.	.|Q13136;Q13136-2|.	.|LIPA1_HUMAN;.|.	N|E|X	263|820;820;317|212	.|ENSP00000253925:G820E;ENSP00000374198:G820E|.	.|ENSP00000253925:G820E|.	D|G|W	+|+|+	1|2|3	0|0|0	PPFIA1|PPFIA1|PPFIA1	69879536|69879536|69879536	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.104000|0.104000|0.104000	0.21259|0.21259|0.21259	0.036000|0.036000|0.036000	0.12997|0.12997|0.12997	6.278000|6.278000|6.278000	0.72614|0.72614|0.72614	1.371000|1.371000|1.371000	0.46172|0.46172|0.46172	-0.165000|-0.165000|-0.165000	0.13383|0.13383|0.13383	GAC|GGA|TGG		0.542	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		A	70201888	G	A	70201888	3	1	391	1	0	0	0	0	1	0	0	0	12311	1174	41	2	2525	2	PPFIA1	11	70201888	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	2982619	70201888	64804628	60	21603											
AQP11	282679	broad.mit.edu;hgsc.bcm.edu	37	11	77314713	77314713	+	Silent	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:77314713T>C	ENST00000313578.3	+	2	1090	c.732T>C	c.(730-732)tcT>tcC	p.S244S	AQP11_ENST00000528638.1_3'UTR	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	244					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S244S(1)		kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			TGGCTCCTTCTTTAGGTAAGC	0.338																																																1	Substitution - coding silent(1)	kidney(1)											153	157	155					11																	77314713		2200	4292	6492	SO:0001819	synonymous_variant	282679			AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"Ion channels / Aquaporins"	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.732T>C	11.37:g.77314713T>C				Silent	SNP	ENST00000313578.3	37	CCDS8251.1																																																																																				0.338	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382582.1	NM_173039		C	77314713	T	C	77314713	2	2	391	1	0	0	0	0	0	0	0	1	823	1596	56	3		3	AQP11	11	77314713	Silent	SNP	T	TCGA-BP-4976-01A-01D-1462-08	7112825	77314713	57691803	61	21604											
NLRX1	79671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119045325	119045325	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:119045325C>T	ENST00000409109.1	+	6	1600	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	NLRX1_ENST00000525863.1_Missense_Mutation_p.S338L|NLRX1_ENST00000292199.2_Missense_Mutation_p.S338L|NLRX1_ENST00000409991.1_Missense_Mutation_p.S338L|NLRX1_ENST00000409265.4_Missense_Mutation_p.S338L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	338	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.S338L(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTTGGCGGTTCAGGTGTCTCT	0.612																																																2	Substitution - Missense(2)	kidney(2)											106	100	102					11																	119045325		2200	4295	6495	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1013C>T	11.37:g.119045325C>T	ENSP00000387334:p.Ser338Leu		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	6.268	0.417582	0.11870	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.71698	-0.52;-0.52;-0.59;-0.52;-0.59	5.59	4.49	0.54785	.	0.871981	0.10051	N	0.722201	T	0.50922	0.1644	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.005	B;B	0.12837	0.008;0.002	T	0.29243	-1.0018	10	0.35671	T	0.21	.	10.2524	0.43377	0.0:0.8961:0.0:0.1039	.	338;338	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	L	338	ENSP00000386851:S338L;ENSP00000292199:S338L;ENSP00000386858:S338L;ENSP00000387334:S338L;ENSP00000433442:S338L	ENSP00000292199:S338L	S	+	2	0	NLRX1	118550535	0.000000	0.05858	0.006000	0.13384	0.047000	0.14425	0.405000	0.21015	2.644000	0.89710	0.655000	0.94253	TCA		0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		T	119045325	C	T	119045325	3	4	391	1	0	0	0	0	1	0	0	0	10487	838	29	2	1031	2	NLRX1	11	119045325	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	41730612	119045325	15961191	62	21605											
CHD4	1108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6690827	6690827	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:6690827C>T	ENST00000357008.2	-	31	4832	c.4669G>A	c.(4669-4671)Gtc>Atc	p.V1557I	CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000309577.6_Missense_Mutation_p.V1585I|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.V1550I|CHD4_ENST00000544484.1_Missense_Mutation_p.V1582I|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1557					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.V1557I(1)|p.V1585I(1)		central_nervous_system(2)	2						GCAGGTGGGACAGGTGCAGGA	0.542																																					Colon(32;586 792 4568 16848 45314)											2	Substitution - Missense(2)	kidney(2)											186	167	174					12																	6690827		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4669G>A	12.37:g.6690827C>T	ENSP00000349508:p.Val1557Ile		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944111	0.53079	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90324	-2.65;-2.62;-2.64;-2.62	5.97	5.97	0.96955	.	0.988254	0.08236	N	0.976751	D	0.90872	0.7132	L	0.56769	1.78	0.36697	D	0.879905	B;B;B	0.19817	0.019;0.039;0.035	B;B;B	0.23419	0.011;0.01;0.046	T	0.81422	-0.0940	10	0.37606	T	0.19	0.1179	18.6193	0.91316	0.0:1.0:0.0:0.0	.	1585;1557;1550	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	I	1582;1550;1585;1557;1531	ENSP00000440392:V1582I;ENSP00000440542:V1550I;ENSP00000312419:V1585I;ENSP00000349508:V1557I	ENSP00000312419:V1585I	V	-	1	0	CHD4	6561088	0.998000	0.40836	0.921000	0.36526	0.935000	0.57460	3.947000	0.56652	2.836000	0.97738	0.655000	0.94253	GTC		0.542	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		T	6690827	C	T	6690827	3	4	391	1	0	0	0	0	1	0	0	0	3329	478	17	2	1109	2	CHD4	12	6690827	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08		6690827	127161068	63	21606											
SFRS2IP	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46318555	46318555	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:46318555G>T	ENST00000369367.3	-	12	4095	c.3862C>A	c.(3862-3864)Caa>Aaa	p.Q1288K	SCAF11_ENST00000419565.2_Missense_Mutation_p.Q1288K|SCAF11_ENST00000549162.1_Missense_Mutation_p.Q1096K|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000465950.1_Missense_Mutation_p.Q973K	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1288					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q1288K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TAGTTGACTTGTTGGGATGGT	0.473																																																1	Substitution - Missense(1)	kidney(1)											71	69	70					12																	46318555		2203	4300	6503	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3862C>A	12.37:g.46318555G>T	ENSP00000358374:p.Gln1288Lys		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724126	0.89298	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.27	5.27	0.74061	.	0.100126	0.44285	D	0.000465	T	0.71584	0.3357	M	0.66939	2.045	0.53688	D	0.999971	D	0.76494	0.999	D	0.70016	0.967	T	0.72513	-0.4270	10	0.54805	T	0.06	-8.773	19.2466	0.93905	0.0:0.0:1.0:0.0	.	1288	Q99590	SCAFB_HUMAN	K	973;1288;1096;1288	ENSP00000449812:Q973K;ENSP00000358374:Q1288K;ENSP00000448864:Q1096K;ENSP00000413036:Q1288K	ENSP00000358374:Q1288K	Q	-	1	0	SCAF11	44604822	1.000000	0.71417	0.661000	0.29709	0.896000	0.52359	8.043000	0.89432	2.624000	0.88883	0.655000	0.94253	CAA		0.473	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		T	46318555	G	T	46318555	3	4	391	1	0	0	0	0	1	0	0	0	14183	1386	48	4	545	4	SFRS2IP	12	46318555	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	39627728	46318555	87533340	64	21607	166	2									
SFRS2IP	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46318557	46318557	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:46318557T>C	ENST00000369367.3	-	12	4093	c.3860A>G	c.(3859-3861)cAa>cGa	p.Q1287R	SCAF11_ENST00000419565.2_Missense_Mutation_p.Q1287R|SCAF11_ENST00000549162.1_Missense_Mutation_p.Q1095R|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000465950.1_Missense_Mutation_p.Q972R	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1287					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q1287R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTTGACTTGTTGGGATGGTGG	0.478																																																1	Substitution - Missense(1)	kidney(1)											71	69	70					12																	46318557		2203	4300	6503	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3860A>G	12.37:g.46318557T>C	ENSP00000358374:p.Gln1287Arg		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.551528	0.86127	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000016	T	0.69396	0.3106	M	0.61703	1.905	0.49915	D	0.999836	D	0.69078	0.997	D	0.70016	0.967	T	0.72411	-0.4302	10	0.66056	D	0.02	-11.4934	15.6788	0.77352	0.0:0.0:0.0:1.0	.	1287	Q99590	SCAFB_HUMAN	R	972;1287;1095;1287	ENSP00000449812:Q972R;ENSP00000358374:Q1287R;ENSP00000448864:Q1095R;ENSP00000413036:Q1287R	ENSP00000358374:Q1287R	Q	-	2	0	SCAF11	44604824	1.000000	0.71417	0.918000	0.36340	0.903000	0.53119	6.629000	0.74267	2.165000	0.68154	0.533000	0.62120	CAA		0.478	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		C	46318557	T	C	46318557	3	2	391	1	0	0	0	0	1	0	0	0	14183	1812	63	3	547	3	SFRS2IP	12	46318557	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08	2	46318557	87533338	65	21608	166	2									
KRT6C	286887	broad.mit.edu	37	12	52864378	52864378	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:52864378C>G	ENST00000252250.6	-	6	1161	c.1114G>C	c.(1114-1116)Gac>Cac	p.D372H		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	372	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.D372H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CGCAGGTCGTCCCCATGTCTG	0.557																																																1	Substitution - Missense(1)	kidney(1)											121	98	106					12																	52864378		2202	4278	6480	SO:0001583	missense	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1114G>C	12.37:g.52864378C>G	ENSP00000252250:p.Asp372His		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235266	0.79800	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.89681	-2.55	3.5	3.5	0.40072	Filament (1);	0.000000	0.64402	D	0.000007	D	0.95812	0.8637	H	0.95365	3.66	0.58432	D	0.999992	D	0.59357	0.985	D	0.68765	0.96	D	0.97358	0.9968	10	0.87932	D	0	.	15.5492	0.76133	0.0:1.0:0.0:0.0	.	372	P48668	K2C6C_HUMAN	H	372;357	ENSP00000252250:D372H	ENSP00000252250:D372H	D	-	1	0	KRT6C	51150645	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.756000	0.68757	1.934000	0.56057	0.448000	0.29417	GAC		0.557	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		G	52864378	C	G	52864378	3	3	391	1	0	0	0	0	1	0	0	0	8484	855	30	4	596	4	KRT6C	12	52864378	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	6545821	52864378	80987517	66	21609											
NACA	4666	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57112266	57112266	+	Silent	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:57112266A>G	ENST00000454682.1	-	3	3329	c.3048T>C	c.(3046-3048)ccT>ccC	p.P1016P	NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1016	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGAGGGAGGAGTCACAG	0.647			T	BCL6	NHL																																		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													31	37	35					12																	57112266		1541	3541	5082	SO:0001819	synonymous_variant	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3048T>C	12.37:g.57112266A>G				Silent	SNP	ENST00000454682.1	37																																																																																					0.647	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		G	57112266	A	G	57112266	2	3	391	1	0	0	0	0	0	0	0	1	10135	291	11	3		3	NACA	12	57112266	Silent	SNP	A	TCGA-BP-4976-01A-01D-1462-08	4247888	57112266	76739629	67	21610											
SHMT2	6472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57626066	57626066	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:57626066delT	ENST00000328923.3	+	5	1037	c.585delT	c.(583-585)tatfs	p.Y195fs	SHMT2_ENST00000393827.4_Frame_Shift_Del_p.I90fs|SHMT2_ENST00000414700.3_Frame_Shift_Del_p.Y174fs|SHMT2_ENST00000557487.1_Frame_Shift_Del_p.Y195fs|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Frame_Shift_Del_p.Y174fs|SHMT2_ENST00000553474.1_Frame_Shift_Del_p.Y174fs	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	195					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CTATGCCCTATAAGCTCAACG	0.597																																					Esophageal Squamous(150;1369 2416 49071 49364)											0													152	127	136					12																	57626066		2203	4300	6503	SO:0001589	frameshift_variant	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.585delT	12.37:g.57626066delT	ENSP00000333667:p.Tyr195fs		B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Frame_Shift_Del	DEL	ENST00000328923.3	37	CCDS8934.1																																																																																				0.597	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		-	57626066	T	-	57626066	7	5	391	1	0	1	0	1	0	0	0	0	14292	1413	49	0	603	0	SHMT2	12	57626066	Frame_Shift_Del	DEL	T	TCGA-BP-4976-01A-01D-1462-08	513800	57626066	76225829	68	21611											
HELB	92797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	66731858	66731858	+	Silent	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:66731858G>A	ENST00000247815.4	+	13	3299	c.3240G>A	c.(3238-3240)aaG>aaA	p.K1080K		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1080					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.K1080K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AACTTTTCAAGCCCACCGATA	0.343																																																1	Substitution - coding silent(1)	kidney(1)											68	71	70					12																	66731858		2203	4300	6503	SO:0001819	synonymous_variant	92797			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.3240G>A	12.37:g.66731858G>A			A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	CCDS8976.1																																																																																				0.343	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			A	66731858	G	A	66731858	2	1	391	1	0	0	0	0	0	0	0	1	7047	962	34	2		2	HELB	12	66731858	Silent	SNP	G	TCGA-BP-4976-01A-01D-1462-08	9105792	66731858	67120037	69	21612											
MTERFD3	80298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	107371722	107371722	+	Silent	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:107371722T>C	ENST00000552029.1	-	2	2839	c.771A>G	c.(769-771)caA>caG	p.Q257Q	MTERFD3_ENST00000240050.4_Silent_p.Q257Q|MTERFD3_ENST00000392830.2_Silent_p.Q257Q|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTEF2_HUMAN		257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)	p.Q257Q(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTGGGCAAAGTTGAAAAAGAA	0.373																																																1	Substitution - coding silent(1)	kidney(1)											59	66	64					12																	107371722		2203	4299	6502	SO:0001819	synonymous_variant	80298																														ENST00000552029.1:c.771A>G	12.37:g.107371722T>C			Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	ENST00000552029.1	37	CCDS9111.1																																																																																				0.373	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			C	107371722	T	C	107371722	2	2	391	1	0	0	0	0	0	0	0	1	9923	1722	60	3		3	MTERFD3	12	107371722	Silent	SNP	T	TCGA-BP-4976-01A-01D-1462-08	40639864	107371722	26480173	70	21613											
SSH1	54434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109186220	109186220	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:109186220C>T	ENST00000326495.5	-	14	1828	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S	SSH1_ENST00000360239.3_Missense_Mutation_p.G267S|SSH1_ENST00000326470.5_Missense_Mutation_p.G590S|SSH1_ENST00000551165.1_Missense_Mutation_p.G579S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	579					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G579S(1)|p.G590S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCGCTCCGACCTTTGGGACTC	0.607																																																2	Substitution - Missense(2)	kidney(2)											99	95	96					12																	109186220		2203	4300	6503	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1735G>A	12.37:g.109186220C>T	ENSP00000315713:p.Gly579Ser		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765767	0.31228	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.11277	3.01;2.83;2.82;2.79	5.11	-1.83	0.07833	.	16.227600	0.00166	N	0.000000	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B;B;B;B	0.23249	0.058;0.082;0.049;0.034	B;B;B;B	0.28011	0.059;0.085;0.024;0.053	T	0.39057	-0.9632	10	0.10111	T	0.7	-1.6294	12.9011	0.58125	0.0:0.2657:0.6092:0.1251	.	590;579;579;267	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	S	267;579;579;590	ENSP00000353374:G267S;ENSP00000315713:G579S;ENSP00000448824:G579S;ENSP00000326107:G590S	ENSP00000326107:G590S	G	-	1	0	SSH1	107710349	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.141000	0.16076	-0.588000	0.05882	-0.182000	0.12963	GGT		0.607	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		T	109186220	C	T	109186220	3	4	391	1	0	0	0	0	1	0	0	0	15189	681	24	2	1608	2	SSH1	12	109186220	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	1814498	109186220	24665675	71	21614											
ANAPC7	51434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	110815266	110815266	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:110815266A>T	ENST00000455511.3	-	9	1391	c.1391T>A	c.(1390-1392)tTa>tAa	p.L464*	ANAPC7_ENST00000450008.2_Nonsense_Mutation_p.L464*|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	464					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.L430*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TTTATCTAATAATGTTTTGGC	0.418																																																1	Substitution - Nonsense(1)	kidney(1)											251	213	226					12																	110815266		2203	4300	6503	SO:0001587	stop_gained	51434			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1391T>A	12.37:g.110815266A>T	ENSP00000394394:p.Leu464*		Q96AC4|Q96GF4|Q9BU24|Q9NT16	Nonsense_Mutation	SNP	ENST00000455511.3	37	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	A	41	9.101324	0.99066	.	.	ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008;ENST00000471602	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-13.411	16.1303	0.81428	1.0:0.0:0.0:0.0	.	.	.	.	X	464;38;62;464;157	.	ENSP00000402314:L464X	L	-	2	0	ANAPC7	109299649	1.000000	0.71417	0.850000	0.33497	0.992000	0.81027	8.962000	0.93254	2.218000	0.71995	0.533000	0.62120	TTA		0.418	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		T	110815266	A	T	110815266	4	4	391	1	0	0	0	0	0	1	0	0	606	372	13	5	424	5	ANAPC7	12	110815266	Nonsense_Mutation	SNP	A	TCGA-BP-4976-01A-01D-1462-08	1629046	110815266	23036629	72	21615											
ACAD10	80724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112186993	112186993	+	Silent	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:112186993C>T	ENST00000313698.4	+	18	2816	c.2661C>T	c.(2659-2661)gtC>gtT	p.V887V	ACAD10_ENST00000455480.2_Silent_p.V918V	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	887						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.V887V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ATGGTGAAGTCCGATTTGAGC	0.547																																																1	Substitution - coding silent(1)	kidney(1)											204	195	198					12																	112186993		2203	4300	6503	SO:0001819	synonymous_variant	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2661C>T	12.37:g.112186993C>T			G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	CCDS31903.1																																																																																				0.547	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		T	112186993	C	T	112186993	2	4	391	1	0	0	0	0	0	0	0	1	108	842	30	2		2	ACAD10	12	112186993	Silent	SNP	C	TCGA-BP-4976-01A-01D-1462-08	1371727	112186993	21664902	73	21616											
C13orf1	57213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	50495711	50495711	+	Silent	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr13:50495711A>G	ENST00000361840.3	-	4	500	c.396T>C	c.(394-396)atT>atC	p.I132I	SPRYD7_ENST00000378195.2_Silent_p.I93I	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	132	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.							p.I132I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						GGTCATAAGTAATACCCTAGG	0.393																																																1	Substitution - coding silent(1)	kidney(1)											86	83	84					13																	50495711		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"chromosome 13 open reading frame 1"	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.396T>C	13.37:g.50495711A>G			A8K3G1|O60648|Q8TBG8|Q96T69	Silent	SNP	ENST00000361840.3	37	CCDS9422.1																																																																																				0.393	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044942.2	NM_020456		G	50495711	A	G	50495711	2	3	391	1	0	0	0	0	0	0	0	1	1719	358	13	3		3	C13orf1	13	50495711	Silent	SNP	A	TCGA-BP-4976-01A-01D-1462-08		50495711	64674167	74	21617											
CGRRF1	10668	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55004493	55004493	+	Silent	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr14:55004493C>T	ENST00000216420.7	+	5	756	c.624C>T	c.(622-624)tgC>tgT	p.C208C	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	208					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C208C(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AACTATCCTGCAGAATATTGT	0.318																																																1	Substitution - coding silent(1)	kidney(1)											83	81	82					14																	55004493		2203	4297	6500	SO:0001819	synonymous_variant	10668			BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"RING-type (C3HC4) zinc fingers"	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.624C>T	14.37:g.55004493C>T			Q96BX2	Silent	SNP	ENST00000216420.7	37	CCDS9719.1																																																																																				0.318	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		T	55004493	C	T	55004493	2	4	391	1	0	0	0	0	0	0	0	1	3308	718	25	2		2	CGRRF1	14	55004493	Silent	SNP	C	TCGA-BP-4976-01A-01D-1462-08		55004493	52345047	75	21618											
C14orf45	80127	broad.mit.edu;hgsc.bcm.edu	37	14	74489763	74489763	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr14:74489763A>T	ENST00000394009.3	+	2	324	c.201A>T	c.(199-201)ttA>ttT	p.L67F	CCDC176_ENST00000489323.1_Intron	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	67					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L67F(1)									ATGAGGACTTAAAGAAAAAGC	0.398																																																1	Substitution - Missense(1)	kidney(1)											114	92	98					14																	74489763		1568	3582	5150	SO:0001583	missense	0			BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 45"	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.201A>T	14.37:g.74489763A>T	ENSP00000377577:p.Leu67Phe		Q0P604|Q9H5P8	Missense_Mutation	SNP	ENST00000394009.3	37	CCDS32119.2	.	.	.	.	.	.	.	.	.	.	A	14.24	2.476953	0.44044	.	.	ENSG00000119636	ENST00000394009	T	0.34667	1.35	4.7	0.726	0.18248	.	0.000000	0.49305	U	0.000143	T	0.30008	0.0751	M	0.68952	2.095	0.80722	D	1	B	0.23540	0.087	B	0.25759	0.063	T	0.08166	-1.0735	10	0.44086	T	0.13	-0.464	3.4195	0.07388	0.5695:0.0:0.2639:0.1665	.	67	Q8ND07	CN045_HUMAN	F	67	ENSP00000377577:L67F	ENSP00000377577:L67F	L	+	3	2	C14orf45	73559516	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	0.560000	0.23500	0.256000	0.21614	0.477000	0.44152	TTA		0.398	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		T	74489763	A	T	74489763	3	4	391	1	0	0	0	0	1	0	0	0	1777	359	13	5	207	5	C14orf45	14	74489763	Missense_Mutation	SNP	A	TCGA-BP-4976-01A-01D-1462-08	19485270	74489763	32859777	76	21619											
MPV17L	255027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15501886	15501886	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr16:15501886A>T	ENST00000396385.3	+	4	627	c.508A>T	c.(508-510)Agt>Tgt	p.S170C	RP11-1021N1.1_ENST00000568222.1_Intron|MPV17L_ENST00000287594.7_Missense_Mutation_p.E146V	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	170					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)	p.E146V(1)|p.S170C(1)		kidney(2)|large_intestine(1)|skin(1)	4						TTCCCAGCAGAGTGGTGACGG	0.488																																																2	Substitution - Missense(2)	kidney(2)											59	51	54					16																	15501886		2197	4300	6497	SO:0001583	missense	255027			DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.508A>T	16.37:g.15501886A>T	ENSP00000379669:p.Ser170Cys		B4DDY1|Q6P7T6|Q8N8E9	Missense_Mutation	SNP	ENST00000396385.3	37	CCDS45421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.29|13.29	2.193504|2.193504	0.38707|0.38707	.|.	.|.	ENSG00000156968|ENSG00000156968	ENST00000287594|ENST00000396385	D|D	0.94184|0.89939	-3.37|-2.59	5.29|5.29	3.01|3.01	0.34805|0.34805	.|.	.|0.140128	.|0.45361	.|U	.|0.000367	T|T	0.82226|0.82226	0.4991|0.4991	.|.	.|.	.|.	0.28020|0.28020	N|N	0.934543|0.934543	D|B	0.53151|0.22003	0.958|0.063	P|B	0.48704|0.22880	0.587|0.042	T|T	0.72747|0.72747	-0.4200|-0.4200	8|9	0.62326|0.52906	D|T	0.03|0.07	-8.7525|-8.7525	6.9992|6.9992	0.24799|0.24799	0.8104:0.0:0.1896:0.0|0.8104:0.0:0.1896:0.0	.|.	146|170	Q2QL34-2|Q2QL34	.|MP17L_HUMAN	V|C	146|170	ENSP00000287594:E146V|ENSP00000379669:S170C	ENSP00000287594:E146V|ENSP00000379669:S170C	E|S	+|+	2|1	0|0	MPV17L|MPV17L	15409387|15409387	1.000000|1.000000	0.71417|0.71417	0.781000|0.781000	0.31783|0.31783	0.752000|0.752000	0.42762|0.42762	3.235000|3.235000	0.51328|0.51328	0.332000|0.332000	0.23536|0.23536	0.386000|0.386000	0.25728|0.25728	GAG|AGT		0.488	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422450.1	NM_173803		T	15501886	A	T	15501886	3	4	391	1	0	0	0	0	1	0	0	0	9748	304	11	5	522	5	MPV17L	16	15501886	Missense_Mutation	SNP	A	TCGA-BP-4976-01A-01D-1462-08		15501886	74852867	77	21620											
METTL9	51108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21666709	21666709	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr16:21666709T>A	ENST00000358154.3	+	5	1171	c.913T>A	c.(913-915)Tac>Aac	p.Y305N	METTL9_ENST00000396014.4_Missense_Mutation_p.Y304N|IGSF6_ENST00000268389.4_5'Flank	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	305								p.Y305N(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		GTATAATGACTACTACGTTCT	0.463																																																1	Substitution - Missense(1)	kidney(1)											112	90	97					16																	21666709		2199	4300	6499	SO:0001583	missense	51108			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.913T>A	16.37:g.21666709T>A	ENSP00000350874:p.Tyr305Asn		Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297086	0.81025	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	L	0.51853	1.615	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.993	T	0.76769	-0.2837	9	0.87932	D	0	-9.9788	14.5959	0.68407	0.0:0.0:0.0:1.0	.	304;305	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	N	305;304;269	.	ENSP00000350874:Y305N	Y	+	1	0	METTL9	21574210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.674000	0.83992	2.333000	0.79357	0.533000	0.62120	TAC		0.463	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		A	21666709	T	A	21666709	3	1	391	1	0	0	0	0	1	0	0	0	9510	1522	53	5	931	5	METTL9	16	21666709	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08	6164823	21666709	68688044	78	21621											
N4BP1	9683	hgsc.bcm.edu;ucsc.edu	37	16	48595915	48595918	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	TGTT	TGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr16:48595915_48595918delTGTT	ENST00000262384.3	-	2	872_875	c.636_639delAACA	c.(634-639)caaacafs	p.QT212fs	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	212					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GTGTAAACTCTGTTTGTTGAGAAT	0.407																																																0																																										SO:0001589	frameshift_variant	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.636_639delAACA	16.37:g.48595919_48595922delTGTT	ENSP00000262384:p.Gln212fs		A7MD49|Q2YDX1	Frame_Shift_Del	DEL	ENST00000262384.3	37	CCDS45479.1																																																																																				0.407	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		-	48595918	TGTT	-	48595915	7	5	391	1	0	1	0	1	0	0	0	0	10111	1567	55	0	2075	0	N4BP1	16	48595915	Frame_Shift_Del	DEL	TGTT	TCGA-BP-4976-01A-01D-1462-08	26929206	48595915	41758838	79	21622											
ALOXE3	59344	broad.mit.edu;ucsc.edu	37	17	8018347	8018347	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr17:8018347A>C	ENST00000448843.2	-	5	803	c.463T>G	c.(463-465)Tgc>Ggc	p.C155G	ALOXE3_ENST00000318227.3_Missense_Mutation_p.C287G|ALOXE3_ENST00000380149.1_Missense_Mutation_p.C311G	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	155	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.			C -> R (in Ref. 1; CAC12843). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.C287G(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TCTACCATGCAGGGGAAGCCA	0.493																																																1	Substitution - Missense(1)	kidney(1)											141	135	137					17																	8018347		2203	4300	6503	SO:0001583	missense	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.463T>G	17.37:g.8018347A>C	ENSP00000400581:p.Cys155Gly		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	A	5.005	0.186542	0.09495	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.89415	-2.51;-2.51;-2.51	5.85	-0.475	0.12104	Lipoxygenase, C-terminal (2);	0.890980	0.09485	N	0.795873	T	0.69043	0.3067	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.57568	-0.7789	10	0.23302	T	0.38	-3.059	6.4332	0.21809	0.1507:0.1148:0.6322:0.1023	.	287;155;155	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	G	311;287;155	ENSP00000369494:C311G;ENSP00000314879:C287G;ENSP00000400581:C155G	ENSP00000314879:C287G	C	-	1	0	ALOXE3	7959072	0.004000	0.15560	0.004000	0.12327	0.691000	0.40173	0.355000	0.20163	0.088000	0.17205	-0.132000	0.14878	TGC		0.493	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			C	8018347	A	C	8018347	3	2	391	1	0	0	0	0	1	0	0	0	542	188	7	5	1720	5	ALOXE3	17	8018347	Missense_Mutation	SNP	A	TCGA-BP-4976-01A-01D-1462-08		8018347	73176863	80	21623											
SGK494	9703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26940338	26940338	+	IGR	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr17:26940338G>C	ENST00000528896.2	-	0	7407				SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron|SGK494_ENST00000301037.5_Missense_Mutation_p.S117C|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.S117C|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)		p.S117C(2)|p.S156C(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGTTCCAAAGGAGCCTTTAGC	0.473											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				3	Substitution - Missense(3)	kidney(3)											79	75	77					17																	26940338		2203	4300	6503	SO:0001628	intergenic_variant	124923			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26940338G>C		790	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227411	0.79576	.	.	ENSG00000258472;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524	ENST00000531839;ENST00000378976;ENST00000481916;ENST00000301037;ENST00000534850;ENST00000530121	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.131804	0.52532	D	0.000070	T	0.33614	0.0869	M	0.72118	2.19	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.05194	-1.0900	10	0.87932	D	0	-9.484	16.8076	0.85709	0.0:0.0:1.0:0.0	.	117;117	E9PMD0;Q96LW2	.;SG494_HUMAN	C	117	ENSP00000431165:S117C;ENSP00000436369:S117C;ENSP00000301037:S117C;ENSP00000437573:S117C;ENSP00000434603:S117C	ENSP00000301037:S117C	S	-	2	0	AC005726.6;RP11-192H23.4	23964465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.516000	0.90552	2.480000	0.83734	0.561000	0.74099	TCC		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		C	26940338	G	C	26940338	1	2	391	0	1	0	0	0	0	0	0	0	14219	1174	41	4		4	SGK494	17	26940338	IGR	SNP	G	TCGA-BP-4976-01A-01D-1462-08	18921991	26940338	54254872	81	21624											
GJC1	10052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42882647	42882647	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr17:42882647T>A	ENST00000426548.1	-	3	808	c.539A>T	c.(538-540)cAg>cTg	p.Q180L	GJC1_ENST00000592524.1_Missense_Mutation_p.Q180L|GJC1_ENST00000330514.4_Missense_Mutation_p.Q180L|GJC1_ENST00000590758.1_Missense_Mutation_p.Q180L	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	180					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)	p.Q180L(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TGCCAGCAACTGCAGCACATA	0.478																																																1	Substitution - Missense(1)	kidney(1)											211	190	197					17																	42882647		2203	4300	6503	SO:0001583	missense	10052			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"Ion channels / Gap junction proteins (connexins)"	4280	protein-coding gene	gene with protein product	"connexin 45"	608655	"gap junction protein, alpha 7, 45kDa"	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.539A>T	17.37:g.42882647T>A	ENSP00000411528:p.Gln180Leu		B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008961	0.75046	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.98192	-4.78;-4.78	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.99826	1.1050	10	0.72032	D	0.01	.	14.8123	0.70006	0.0:0.0:0.0:1.0	.	180	P36383	CXG1_HUMAN	L	180	ENSP00000411528:Q180L;ENSP00000333193:Q180L	ENSP00000333193:Q180L	Q	-	2	0	GJC1	40238173	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.026000	0.88783	2.086000	0.62901	0.421000	0.28195	CAG		0.478	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		A	42882647	T	A	42882647	3	1	391	1	0	0	0	0	1	0	0	0	6416	1580	55	5	655	5	GJC1	17	42882647	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08	15942309	42882647	38312563	82	21625											
PRR11	55771	hgsc.bcm.edu;ucsc.edu	37	17	57262419	57262419	+	Missense_Mutation	SNP	G	G	C	rs114400215	byFrequency	TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr17:57262419G>C	ENST00000262293.4	+	3	445	c.133G>C	c.(133-135)Ggt>Cgt	p.G45R		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	45						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTACAGAGTCGGTATTTCTTC	0.383																																																0													63	68	66					17																	57262419		2202	4300	6502	SO:0001583	missense	55771				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.133G>C	17.37:g.57262419G>C	ENSP00000262293:p.Gly45Arg		Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	G	1.066	-0.671517	0.03403	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.67	0.837	0.18896	.	0.699968	0.12932	N	0.427319	T	0.22282	0.0537	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.21586	-1.0241	9	0.66056	D	0.02	-0.3637	9.3052	0.37870	0.2807:0.0:0.7193:0.0	.	45	Q96HE9	PRR11_HUMAN	R	45	.	ENSP00000262293:G45R	G	+	1	0	PRR11	54617201	0.022000	0.18835	0.055000	0.19348	0.005000	0.04900	0.038000	0.13862	0.230000	0.21059	-1.076000	0.02234	GGT		0.383	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		C	57262419	G	C	57262419	3	2	391	1	0	0	0	0	1	0	0	0	12588	1116	39	4	139	4	PRR11	17	57262419	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	14379772	57262419	23932791	83	21626											
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	7032162	7032162	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr18:7032162C>T	ENST00000389658.3	-	16	2270	c.2177G>A	c.(2176-2178)gGc>gAc	p.G726D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	726	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G726D(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCGGTAATAGCCAGAGAGGCA	0.468																																																1	Substitution - Missense(1)	kidney(1)											87	69	75					18																	7032162		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2177G>A	18.37:g.7032162C>T	ENSP00000374309:p.Gly726Asp			Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425694	0.83667	.	.	ENSG00000101680	ENST00000389658	T	0.66995	-0.24	5.51	5.51	0.81932	EGF-like, laminin (2);	0.070768	0.56097	D	0.000039	D	0.87330	0.6150	H	0.95151	3.63	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.90421	0.4417	10	0.59425	D	0.04	.	17.5921	0.87999	0.0:1.0:0.0:0.0	.	726	P25391	LAMA1_HUMAN	D	726	ENSP00000374309:G726D	ENSP00000374309:G726D	G	-	2	0	LAMA1	7022162	1.000000	0.71417	0.999000	0.59377	0.771000	0.43674	7.462000	0.80851	2.572000	0.86782	0.655000	0.94253	GGC		0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7032162	C	T	7032162	3	4	391	1	0	0	0	0	1	0	0	0	8607	739	26	2	7242	2	LAMA1	18	7032162	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08		7032162	71045086	84	21627											
ASXL3	80816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	31324962	31324962	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr18:31324962A>C	ENST00000269197.5	+	12	5150	c.5150A>C	c.(5149-5151)gAa>gCa	p.E1717A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1717					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E1717A(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGTCCCATGGAAGAGGCTATT	0.567																																																1	Substitution - Missense(1)	kidney(1)											79	81	80					18																	31324962		2016	4205	6221	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5150A>C	18.37:g.31324962A>C	ENSP00000269197:p.Glu1717Ala		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.412271	0.42817	.	.	ENSG00000141431	ENST00000269197	T	0.18502	2.21	5.86	5.86	0.93980	.	.	.	.	.	T	0.13372	0.0324	N	0.24115	0.695	0.45342	D	0.998339	P	0.34562	0.457	B	0.34038	0.174	T	0.13656	-1.0501	9	0.24483	T	0.36	.	16.255	0.82510	1.0:0.0:0.0:0.0	.	1717	Q9C0F0	ASXL3_HUMAN	A	1717	ENSP00000269197:E1717A	ENSP00000269197:E1717A	E	+	2	0	ASXL3	29578960	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.464000	0.80887	2.240000	0.73641	0.533000	0.62120	GAA		0.567	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			C	31324962	A	C	31324962	3	2	391	1	0	0	0	0	1	0	0	0	1068	246	9	5	5196	5	ASXL3	18	31324962	Missense_Mutation	SNP	A	TCGA-BP-4976-01A-01D-1462-08	24292800	31324962	46752286	85	21628											
SMAD7	4092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	46474803	46474803	+	Silent	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr18:46474803A>G	ENST00000262158.2	-	2	904	c.618T>C	c.(616-618)tcT>tcC	p.S206S	SMAD7_ENST00000591805.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.S206S	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	206	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.S206S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GAGGGGGGGGAGACTCTGAAA	0.383																																																1	Substitution - coding silent(1)	kidney(1)											35	42	39					18																	46474803		2203	4297	6500	SO:0001819	synonymous_variant	4092			AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.618T>C	18.37:g.46474803A>G			B7Z773|K7EQ10|O14740|Q6DK23	Silent	SNP	ENST00000262158.2	37	CCDS11936.1																																																																																				0.383	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		G	46474803	A	G	46474803	2	3	391	1	0	0	0	0	0	0	0	1	14769	291	11	3		3	SMAD7	18	46474803	Silent	SNP	A	TCGA-BP-4976-01A-01D-1462-08	15149841	46474803	31602445	86	21629											
APC2	10297	broad.mit.edu	37	19	1453570	1453570	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:1453570C>T	ENST00000535453.1	+	3	2086	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	APC2_ENST00000233607.2_Missense_Mutation_p.R125W|APC2_ENST00000238483.4_Missense_Mutation_p.R125W			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)	p.R125W(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCTGAGCCGGGCCACCAT	0.736																																																1	Substitution - Missense(1)	kidney(1)											8	12	11					19																	1453570		2171	4253	6424	SO:0001583	missense	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.373C>T	19.37:g.1453570C>T	ENSP00000442954:p.Arg125Trp		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248059	0.80024	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.81078	-1.45;-1.45;-1.45	4.67	2.25	0.28309	.	0.089452	0.43919	D	0.000505	D	0.84552	0.5497	L	0.55481	1.735	0.21782	N	0.999542	D;D	0.89917	1.0;1.0	D;D	0.75484	0.977;0.986	T	0.72861	-0.4164	10	0.87932	D	0	-32.2251	9.527	0.39171	0.3105:0.6895:0.0:0.0	.	125;125	O95996-3;O95996	.;APC2_HUMAN	W	125	ENSP00000233607:R125W;ENSP00000238483:R125W;ENSP00000442954:R125W	ENSP00000233607:R125W	R	+	1	2	APC2	1404570	0.941000	0.31946	1.000000	0.80357	0.987000	0.75469	0.017000	0.13399	2.149000	0.67028	0.462000	0.41574	CGG		0.736	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		T	1453570	C	T	1453570	3	4	391	1	0	0	0	0	1	0	0	0	764	643	23	1	383	1	APC2	19	1453570	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08		1453570	57675413	87	21630											
FZR1	51343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3533330	3533330	+	Silent	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:3533330C>A	ENST00000395095.3	+	11	1281	c.1281C>A	c.(1279-1281)gtC>gtA	p.V427V	FZR1_ENST00000441788.2_Silent_p.V427V|FZR1_ENST00000313639.8_Silent_p.V338V	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	427					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V427V(1)		endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCCTTGTCTGGAAGTACC	0.662																																																1	Substitution - coding silent(1)	kidney(1)											133	93	106					19																	3533330		2203	4300	6503	SO:0001819	synonymous_variant	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1281C>A	19.37:g.3533330C>A			O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Silent	SNP	ENST00000395095.3	37	CCDS45916.1																																																																																				0.662	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		A	3533330	C	A	3533330	2	1	391	1	0	0	0	0	0	0	0	1	6140	900	32	4		4	FZR1	19	3533330	Silent	SNP	C	TCGA-BP-4976-01A-01D-1462-08	2079760	3533330	55595653	88	21631											
SH2D3A	10045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6760899	6760899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:6760899delC	ENST00000245908.6	-	3	438	c.169delG	c.(169-171)gccfs	p.A57fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	57	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AAATGGAGGGCTGAGCCCCGC	0.637																																																0													38	38	38					19																	6760899		2203	4299	6502	SO:0001589	frameshift_variant	10045			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.169delG	19.37:g.6760899delC	ENSP00000245908:p.Ala57fs		A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Del	DEL	ENST00000245908.6	37	CCDS12173.1																																																																																				0.637	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		-	6760899	C	-	6760899	7	5	391	1	0	1	0	1	0	0	0	0	14239	797	28	0	1593	0	SH2D3A	19	6760899	Frame_Shift_Del	DEL	C	TCGA-BP-4976-01A-01D-1462-08	3227569	6760899	52368084	89	21632											
RPL18A	6142	broad.mit.edu;hgsc.bcm.edu	37	19	17972160	17972160	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:17972160C>A	ENST00000222247.5	+	2	158	c.77C>A	c.(76-78)cCc>cAc	p.P26H	RPL18A_ENST00000599870.1_5'UTR|RPL18A_ENST00000600147.1_Missense_Mutation_p.P26H|RPL18A_ENST00000599898.1_Intron|SNORA68_ENST00000384437.1_RNA	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	26					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.P26H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CACACGCCGCCCCTCTACCGC	0.547																																																1	Substitution - Missense(1)	kidney(1)											53	51	52					19																	17972160		2203	4296	6499	SO:0001583	missense	6142			AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"L ribosomal proteins"	10311	protein-coding gene	gene with protein product	"60S ribosomal protein L18a", "ribosomal protein L18a-like protein"	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.77C>A	19.37:g.17972160C>A	ENSP00000222247:p.Pro26His			Missense_Mutation	SNP	ENST00000222247.5	37	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	c	15.85	2.954734	0.53293	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	3.94	3.94	0.45596	Ribosomal protein L18a/LX (1);	0.000000	0.85682	U	0.000000	T	0.81113	0.4755	M	0.89840	3.065	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.85763	0.1350	9	0.87932	D	0	.	13.8461	0.63468	0.0:1.0:0.0:0.0	.	26	Q02543	RL18A_HUMAN	H	26	.	ENSP00000222247:P26H	P	+	2	0	RPL18A	17833160	1.000000	0.71417	0.035000	0.18076	0.059000	0.15707	7.562000	0.82300	1.930000	0.55929	0.558000	0.71614	CCC		0.547	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980		A	17972160	C	A	17972160	3	1	391	1	0	0	0	0	1	0	0	0	13571	623	22	4	83	4	RPL18A	19	17972160	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	11211261	17972160	41156823	90	21633											
ATP1A3	478	broad.mit.edu;hgsc.bcm.edu	37	19	42490382	42490382	+	Splice_Site	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:42490382C>A	ENST00000302102.5	-	5	508		c.e5-1		ATP1A3_ENST00000543770.1_Splice_Site|ATP1A3_ENST00000545399.1_Splice_Site|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Splice_Site	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide						adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.?(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGTACAGCTGTGGGGAGA	0.602																																																1	Unknown(1)	kidney(1)											43	37	39					19																	42490382		2203	4300	6503	SO:0001630	splice_region_variant	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.358-1G>T	19.37:g.42490382C>A			B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Splice_Site	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204740	0.58234	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	.	.	.	3.6	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5331	0.61633	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP1A3	47182222	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	7.750000	0.85110	1.965000	0.57142	0.491000	0.48974	.		0.602	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296	Intron	A	42490382	C	A	42490382	5	1	391	1	0	0	0	0	0	0	1	0	1130	811	28	4	2760	4	ATP1A3	19	42490382	Splice_Site	SNP	C	TCGA-BP-4976-01A-01D-1462-08	24518222	42490382	16638601	91	21634											
PHLDB3	653583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	43999463	43999463	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:43999463C>T	ENST00000292140.5	-	8	1340	c.980G>A	c.(979-981)tGc>tAc	p.C327Y		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	327							enzyme binding (GO:0019899)	p.C327Y(1)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TCCCTGAAGGCAATTGAGCTC	0.557																																																1	Substitution - Missense(1)	kidney(1)											44	48	46					19																	43999463		1992	4158	6150	SO:0001583	missense	653583				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.980G>A	19.37:g.43999463C>T	ENSP00000292140:p.Cys327Tyr		Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.536040	0.00942	.	.	ENSG00000176531	ENST00000292140	T	0.43294	0.95	3.85	-1.03	0.10102	.	.	.	.	.	T	0.19725	0.0474	L	0.27053	0.805	0.09310	N	1	B;B	0.12630	0.005;0.006	B;B	0.10450	0.005;0.004	T	0.30001	-0.9993	9	0.02654	T	1	.	2.7623	0.05310	0.2053:0.3984:0.0:0.3963	.	31;327	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	Y	327	ENSP00000292140:C327Y	ENSP00000292140:C327Y	C	-	2	0	PHLDB3	48691303	0.000000	0.05858	0.010000	0.14722	0.097000	0.18754	-0.458000	0.06737	-0.078000	0.12730	0.585000	0.79938	TGC		0.557	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			T	43999463	C	T	43999463	3	4	391	1	0	0	0	0	1	0	0	0	11855	710	25	2	978	2	PHLDB3	19	43999463	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	1509081	43999463	15129520	92	21635											
MYBPC2	4606	broad.mit.edu	37	19	50962223	50962223	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:50962223G>A	ENST00000357701.5	+	22	2606	c.2555G>A	c.(2554-2556)cGc>cAc	p.R852H		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	852	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R852H(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACCTACATCCGCAAAGTGGGC	0.697																																																1	Substitution - Missense(1)	kidney(1)											21	27	25					19																	50962223		2014	4221	6235	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2555G>A	19.37:g.50962223G>A	ENSP00000350332:p.Arg852His		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	16.43	3.121337	0.56613	.	.	ENSG00000086967	ENST00000357701	T	0.66995	-0.24	4.01	4.01	0.46588	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.505595	0.13386	U	0.391790	T	0.66819	0.2828	M	0.88241	2.94	0.31567	N	0.6568	P	0.34800	0.469	B	0.31686	0.134	T	0.70766	-0.4783	10	0.36615	T	0.2	.	6.6699	0.23062	0.2134:0.0:0.7866:0.0	.	852	Q14324	MYPC2_HUMAN	H	852	ENSP00000350332:R852H	ENSP00000350332:R852H	R	+	2	0	MYBPC2	55654035	0.246000	0.23909	0.993000	0.49108	0.609000	0.37215	0.754000	0.26390	1.967000	0.57214	0.457000	0.33378	CGC		0.697	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		A	50962223	G	A	50962223	3	1	391	1	0	0	0	0	1	0	0	0	10014	1087	38	1	2641	1	MYBPC2	19	50962223	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	6962760	50962223	8166760	93	21636											
SIGLEC9	27180	broad.mit.edu;ucsc.edu	37	19	51628430	51628430	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:51628430A>C	ENST00000250360.3	+	1	266	c.199A>C	c.(199-201)Aat>Cat	p.N67H	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.N67H	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	67	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.N67H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGAAGGGGCCAATACAGACCA	0.597																																																1	Substitution - Missense(1)	kidney(1)											100	84	90					19																	51628430		2203	4300	6503	SO:0001583	missense	27180			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.199A>C	19.37:g.51628430A>C	ENSP00000250360:p.Asn67His		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	2.803	-0.248647	0.05867	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.67345	-0.26;-0.26	2.88	-5.77	0.02369	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.681520	0.02182	N	0.060553	T	0.50017	0.1591	L	0.35414	1.06	0.09310	N	1	B	0.12013	0.005	B	0.15870	0.014	T	0.24476	-1.0159	10	0.45353	T	0.12	.	2.4509	0.04517	0.4584:0.118:0.307:0.1167	.	67	Q9Y336	SIGL9_HUMAN	H	67	ENSP00000413861:N67H;ENSP00000250360:N67H	ENSP00000250360:N67H	N	+	1	0	SIGLEC9	56320242	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.020000	0.00159	-2.473000	0.00528	-2.291000	0.00267	AAT		0.597	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		C	51628430	A	C	51628430	3	2	391	1	0	0	0	0	1	0	0	0	14321	130	5	5	201	5	SIGLEC9	19	51628430	Missense_Mutation	SNP	A	TCGA-BP-4976-01A-01D-1462-08	666207	51628430	7500553	94	21637											
ZNF343	79175	broad.mit.edu;hgsc.bcm.edu	37	20	2464152	2464152	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr20:2464152C>G	ENST00000278772.4	-	6	1942	c.1455G>C	c.(1453-1455)agG>agC	p.R485S	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R485S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTGAGTGTGTCCTCTGGTGGA	0.517																																																1	Substitution - Missense(1)	kidney(1)											114	101	105					20																	2464152		2203	4300	6503	SO:0001583	missense	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1455G>C	20.37:g.2464152C>G	ENSP00000278772:p.Arg485Ser		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190270	0.58017	.	.	ENSG00000088876	ENST00000278772	T	0.56776	0.44	2.19	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52468	0.1736	M	0.77486	2.375	0.20873	N	0.999837	P	0.46457	0.878	P	0.45276	0.475	T	0.51293	-0.8724	9	0.72032	D	0.01	.	3.6136	0.08069	0.0:0.628:0.0:0.372	.	485	Q6P1L6	ZN343_HUMAN	S	485	ENSP00000278772:R485S	ENSP00000278772:R485S	R	-	3	2	ZNF343	2412152	0.000000	0.05858	0.134000	0.22075	0.901000	0.52897	-3.072000	0.00618	1.229000	0.43630	0.591000	0.81541	AGG		0.517	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		G	2464152	C	G	2464152	3	3	391	1	0	0	0	0	1	0	0	0	17863	854	30	4	348	4	ZNF343	20	2464152	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08		2464152	60561368	95	21638											
XRN2	22803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	21314413	21314413	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr20:21314413G>C	ENST00000377191.3	+	11	1100	c.1005G>C	c.(1003-1005)tgG>tgC	p.W335C	XRN2_ENST00000539513.1_Missense_Mutation_p.W281C|XRN2_ENST00000430571.2_Missense_Mutation_p.W259C	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	335					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.W335C(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTGATGACTGGGTTTTCATGT	0.408																																																1	Substitution - Missense(1)	kidney(1)											308	283	292					20																	21314413		2203	4300	6503	SO:0001583	missense	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1005G>C	20.37:g.21314413G>C	ENSP00000366396:p.Trp335Cys		Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276793	0.80580	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.38401	1.16;1.14;1.15	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80211	-0.1476	10	0.87932	D	0	-7.6303	20.1162	0.97934	0.0:0.0:1.0:0.0	.	335	Q9H0D6	XRN2_HUMAN	C	335;259;281	ENSP00000366396:W335C;ENSP00000413548:W259C;ENSP00000441113:W281C	ENSP00000366396:W335C	W	+	3	0	XRN2	21262413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.756000	0.94617	0.655000	0.94253	TGG		0.408	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		C	21314413	G	C	21314413	3	2	391	1	0	0	0	0	1	0	0	0	17465	1241	43	4	1047	4	XRN2	20	21314413	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	18850261	21314413	41711107	96	21639											
KIF3B	9371	hgsc.bcm.edu;ucsc.edu	37	20	30919118	30919119	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr20:30919118_30919119delAG	ENST00000375712.3	+	9	2407_2408	c.2240_2241delAG	c.(2239-2241)aagfs	p.K747fs	KIF3B_ENST00000418717.2_Frame_Shift_Del_p.K373fs	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	747	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGGTTCCAAAGTAAAGCCAGC	0.525																																																0																																										SO:0001589	frameshift_variant	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2240_2241delAG	20.37:g.30919118_30919119delAG	ENSP00000364864:p.Lys747fs		B2RMP4|B4DSR5|E1P5M5	Frame_Shift_Del	DEL	ENST00000375712.3	37	CCDS13200.1																																																																																				0.525	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		-	30919119	AG	-	30919118	7	5	391	1	0	1	0	1	0	0	0	0	8303	72	3	0	2270	0	KIF3B	20	30919118	Frame_Shift_Del	DEL	AG	TCGA-BP-4976-01A-01D-1462-08	9604705	30919118	32106402	97	21640											
SRC	6714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	36024602	36024602	+	Silent	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr20:36024602C>A	ENST00000373578.2	+	8	940	c.591C>A	c.(589-591)gcC>gcA	p.A197A	SRC_ENST00000445403.1_Silent_p.A197A|SRC_ENST00000358208.4_Silent_p.A197A|SRC_ENST00000373567.2_Silent_p.A197A|SRC_ENST00000360723.4_Silent_p.A203A|SRC_ENST00000373558.2_Silent_p.A203A	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	197	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.A197A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	TCGACAACGCCAAGGGCCTCA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											84	77	79					20																	36024602		2203	4300	6503	SO:0001819	synonymous_variant	6714			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"SH2 domain containing"	11283	protein-coding gene	gene with protein product		190090	"v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.591C>A	20.37:g.36024602C>A			E1P5V4|Q76P87|Q86VB9|Q9H5A8	Silent	SNP	ENST00000373578.2	37	CCDS13294.1																																																																																				0.652	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		A	36024602	C	A	36024602	2	1	391	1	0	0	0	0	0	0	0	1	15139	581	21	4		4	SRC	20	36024602	Silent	SNP	C	TCGA-BP-4976-01A-01D-1462-08	5105484	36024602	27000918	98	21641											
OPRL1	4987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62729653	62729653	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr20:62729653C>T	ENST00000349451.3	+	6	1026	c.614C>T	c.(613-615)cCt>cTt	p.P205L	OPRL1_ENST00000355631.4_Missense_Mutation_p.P205L|OPRL1_ENST00000336866.2_Missense_Mutation_p.P205L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	205					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)	p.P205L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTGGAGATCCCTACCCCTCAG	0.617																																																1	Substitution - Missense(1)	kidney(1)											216	172	187					20																	62729653		2203	4297	6500	SO:0001583	missense	4987				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.614C>T	20.37:g.62729653C>T	ENSP00000336764:p.Pro205Leu		Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838364	0.71373	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.36878	1.23;1.23;1.23	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74748	-0.3560	10	0.87932	D	0	.	17.6656	0.88202	0.0:1.0:0.0:0.0	.	200;205	P41146-2;P41146	.;OPRX_HUMAN	L	205	ENSP00000336843:P205L;ENSP00000347848:P205L;ENSP00000336764:P205L	ENSP00000336843:P205L	P	+	2	0	OPRL1	62200097	1.000000	0.71417	0.913000	0.36048	0.349000	0.29174	7.637000	0.83313	2.166000	0.68216	0.555000	0.69702	CCT		0.617	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		T	62729653	C	T	62729653	3	4	391	1	0	0	0	0	1	0	0	0	10888	681	24	2	624	2	OPRL1	20	62729653	Missense_Mutation	SNP	C	TCGA-BP-4976-01A-01D-1462-08	26705051	62729653	295867	99	21642											
SEZ6L	23544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	26743810	26743810	+	Missense_Mutation	SNP	G	G	A	rs375640180		TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr22:26743810G>A	ENST00000248933.6	+	11	2433	c.2338G>A	c.(2338-2340)Gtg>Atg	p.V780M	SEZ6L_ENST00000343706.4_Missense_Mutation_p.V780M|SEZ6L_ENST00000402979.1_Missense_Mutation_p.V553M|SEZ6L_ENST00000529632.2_Missense_Mutation_p.V780M|SEZ6L_ENST00000360929.3_Missense_Mutation_p.V780M|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000403121.1_Missense_Mutation_p.V553M|SEZ6L_ENST00000404234.3_Missense_Mutation_p.V780M			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	780	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.V780M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTATGACATCGTGGGGAGTGA	0.552																																																1	Substitution - Missense(1)	kidney(1)						G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	84	81	82		2338,2338,2338,2338,2338,2338	4.8	1	22		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	21,21,21,21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	780/1024,780/1014,780/1012,780/950,780/949,780/1025	26743810	1,13005	2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2338G>A	22.37:g.26743810G>A	ENSP00000248933:p.Val780Met		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165631	0.78339	0.0	1.16E-4	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	4.84	4.84	0.62591	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.50627	D	0.000111	T	0.80934	0.4719	M	0.84326	2.69	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;1.0;0.999;1.0;1.0	D	0.83940	0.0311	10	0.72032	D	0.01	.	17.1206	0.86701	0.0:0.0:1.0:0.0	.	780;780;553;780;780;780;780	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	M	780;780;780;780;780;553;553	ENSP00000384772:V780M;ENSP00000437037:V780M;ENSP00000354185:V780M;ENSP00000248933:V780M;ENSP00000342661:V780M;ENSP00000384838:V553M;ENSP00000384733:V553M	ENSP00000248933:V780M	V	+	1	0	SEZ6L	25073810	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.089000	0.94137	2.520000	0.84964	0.655000	0.94253	GTG		0.552	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			A	26743810	G	A	26743810	3	1	391	1	0	0	0	0	1	0	0	0	14149	1145	40	1	2380	1	SEZ6L	22	26743810	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08		26743810	24560756	100	21643											
DEPDC5	9681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32188047	32188047	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr22:32188047T>C	ENST00000382112.3	+	10	723	c.653T>C	c.(652-654)gTg>gCg	p.V218A	DEPDC5_ENST00000535622.1_Missense_Mutation_p.V218A|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V218A|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V218A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V218A|DEPDC5_ENST00000400248.2_Missense_Mutation_p.V218A|DEPDC5_ENST00000400246.1_Missense_Mutation_p.V218A|DEPDC5_ENST00000536766.1_Missense_Mutation_p.V190A|DEPDC5_ENST00000400242.3_Missense_Mutation_p.V218A|DEPDC5_ENST00000382105.2_Missense_Mutation_p.V218A	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	218					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.V218A(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAAGTGACAGTGGTCCTGTTT	0.403																																																2	Substitution - Missense(2)	kidney(2)											146	138	141					22																	32188047		1861	4101	5962	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.653T>C	22.37:g.32188047T>C	ENSP00000371546:p.Val218Ala		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	-	25.5	4.649218	0.87958	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.50277	1.38;1.33;0.75;1.77;1.74;1.76;1.36;1.74;1.76;1.74	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	L	0.47190	1.495	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.983;0.992;0.981;0.996;0.984	D;P;D;D;D;P	0.71656	0.974;0.826;0.95;0.928;0.947;0.79	T	0.64728	-0.6339	10	0.87932	D	0	.	14.7907	0.69841	0.0:0.0:0.0:1.0	.	218;190;218;218;218;218	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	A	218;190;218;218;218;218;218;218;218;218;218	ENSP00000440210:V218A;ENSP00000441358:V190A;ENSP00000383101:V218A;ENSP00000266091:V218A;ENSP00000383108:V218A;ENSP00000383105:V218A;ENSP00000371539:V218A;ENSP00000371546:V218A;ENSP00000371545:V218A;ENSP00000383107:V218A	ENSP00000266091:V218A	V	+	2	0	DEPDC5	30518047	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.996000	0.76263	2.173000	0.68751	0.515000	0.50301	GTG		0.403	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		C	32188047	T	C	32188047	3	2	391	1	0	0	0	0	1	0	0	0	4444	1696	59	3	691	3	DEPDC5	22	32188047	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08	5444237	32188047	19116519	101	21644											
MPST	4357	broad.mit.edu	37	22	37420797	37420797	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr22:37420797G>T	ENST00000397225.2	+	2	1456	c.541G>T	c.(541-543)Gtg>Ttg	p.V181L	MPST_ENST00000401419.3_Missense_Mutation_p.V181L|MPST_ENST00000404802.3_Missense_Mutation_p.V181L|MPST_ENST00000429360.2_Missense_Mutation_p.V181L|MPST_ENST00000341116.3_Missense_Mutation_p.V181L|MPST_ENST00000397129.1_Missense_Mutation_p.V201L|MPST_ENST00000404393.1_Missense_Mutation_p.V181L			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	181	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)	p.V181L(1)		central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CTTCCAGGTGGTGGACTCCCG	0.692																																																1	Substitution - Missense(1)	kidney(1)											11	14	13					22																	37420797		2163	4233	6396	SO:0001583	missense	4357			X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"human liver rhodanese"	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.541G>T	22.37:g.37420797G>T	ENSP00000380402:p.Val181Leu		A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Missense_Mutation	SNP	ENST00000397225.2	37	CCDS13939.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845717	0.91197	.	.	ENSG00000128309	ENST00000401419;ENST00000397129;ENST00000404802;ENST00000341116;ENST00000429360;ENST00000404393;ENST00000397225;ENST00000446076	T;T;T;T;T;T;T	0.41400	1.97;1.97;1.97;1.97;1.97;1.0;1.97	5.67	5.67	0.87782	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	L	0.51853	1.615	0.80722	D	1	B;B;P;B;D	0.54047	0.108;0.108;0.872;0.108;0.964	B;B;B;B;P	0.49561	0.121;0.121;0.288;0.121;0.615	T	0.46176	-0.9210	10	0.48119	T	0.1	-10.2862	19.7782	0.96405	0.0:0.0:1.0:0.0	.	181;181;181;181;201	Q6FHN9;B3KP52;B1AH49;P25325;Q59HD5	.;.;.;THTM_HUMAN;.	L	181;201;181;181;181;181;181;181	ENSP00000384812:V181L;ENSP00000380318:V201L;ENSP00000383950:V181L;ENSP00000342333:V181L;ENSP00000411719:V181L;ENSP00000385062:V181L;ENSP00000380402:V181L	ENSP00000342333:V181L	V	+	1	0	MPST	35750743	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.629000	0.83207	2.667000	0.90743	0.561000	0.74099	GTG		0.692	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318832.1	NM_001013440		T	37420797	G	T	37420797	3	4	391	1	0	0	0	0	1	0	0	0	9746	1261	44	4	607	4	MPST	22	37420797	Missense_Mutation	SNP	G	TCGA-BP-4976-01A-01D-1462-08	5232750	37420797	13883769	102	21645											
CYLC1	1538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	83128529	83128529	+	Silent	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chrX:83128529T>C	ENST00000329312.4	+	4	850	c.813T>C	c.(811-813)aaT>aaC	p.N271N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	271					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.N271N(1)|p.N270N(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACTCACAGAATAATTCAAAGA	0.323																																																2	Substitution - coding silent(2)	kidney(2)											31	30	30					X																	83128529		2191	4281	6472	SO:0001819	synonymous_variant	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.813T>C	X.37:g.83128529T>C			A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	CCDS35341.1																																																																																				0.323	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		C	83128529	T	C	83128529	2	2	391	1	0	0	0	0	0	0	0	1	4143	1403	49	3		3	CYLC1	23	83128529	Silent	SNP	T	TCGA-BP-4976-01A-01D-1462-08		83128529	72142031	103	21646											
PNMA3	29944	broad.mit.edu	37	X	152226515	152226515	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chrX:152226515T>C	ENST00000370264.4	+	1	1129	c.1103T>C	c.(1102-1104)cTc>cCc	p.L368P	PNMA3_ENST00000447306.1_Missense_Mutation_p.L368P|PNMA3_ENST00000370265.4_Missense_Mutation_p.L368P			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	368					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L368P(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTACCTCTCCCTGCCTCT	0.637																																																2	Substitution - Missense(2)	kidney(2)											27	30	29					X																	152226515		2203	4300	6503	SO:0001583	missense	29944			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1103T>C	X.37:g.152226515T>C	ENSP00000359286:p.Leu368Pro		D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	t	4.702	0.130591	0.08981	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.17370	2.29;2.28;2.28	2.05	-4.09	0.03951	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.09310	N	0.999999	B	0.12630	0.006	B	0.04013	0.001	T	0.31280	-0.9949	9	0.35671	T	0.21	.	1.0175	0.01510	0.198:0.153:0.398:0.251	.	368	Q9UL41	PNMA3_HUMAN	P	368	ENSP00000359288:L368P;ENSP00000407642:L368P;ENSP00000359286:L368P	ENSP00000359286:L368P	L	+	2	0	PNMA3	151977171	0.014000	0.17966	0.000000	0.03702	0.011000	0.07611	0.597000	0.24059	-1.393000	0.02079	-0.763000	0.03452	CTC		0.637	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		C	152226515	T	C	152226515	3	2	391	1	0	0	0	0	1	0	0	0	12157	1551	54	3	1105	3	PNMA3	23	152226515	Missense_Mutation	SNP	T	TCGA-BP-4976-01A-01D-1462-08	69097986	152226515	3044045	104	21647											
TAS1R2	80834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19167003	19167003	+	Missense_Mutation	SNP	G	G	A	rs201628216		TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr1:19167003G>A	ENST00000375371.3	-	6	1631	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	537					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.A537V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATTCGGGCAGGCCTGGCATTC	0.587																																																1	Substitution - Missense(1)	kidney(1)											46	49	48					1																	19167003		2203	4299	6502	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1610C>T	1.37:g.19167003G>A	ENSP00000364520:p.Ala537Val		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356892	0.24598	.	.	ENSG00000179002	ENST00000375371	D	0.89875	-2.58	5.48	2.28	0.28536	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	1.068390	0.07306	N	0.874991	T	0.80859	0.4704	N	0.21324	0.655	0.09310	N	1	B	0.30146	0.27	B	0.28916	0.096	T	0.68907	-0.5285	10	0.31617	T	0.26	.	8.026	0.30438	0.0827:0.0:0.6877:0.2296	.	537	Q8TE23	TS1R2_HUMAN	V	537	ENSP00000364520:A537V	ENSP00000364520:A537V	A	-	2	0	TAS1R2	19039590	0.000000	0.05858	0.996000	0.52242	0.078000	0.17371	0.243000	0.18106	1.321000	0.45227	-0.140000	0.14226	GCC		0.587	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			A	19167003	G	A	19167003	3	1	392	1	0	0	0	0	1	0	0	0	15568	1203	42	2	913	2	TAS1R2	1	19167003	Missense_Mutation	SNP	G	TCGA-BP-4977-01A-01D-1462-08		19167003	230083618	1	21648											
ZBTB41	360023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197159944	197159944	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr1:197159944G>T	ENST00000367405.4	-	3	1414	c.1346C>A	c.(1345-1347)gCa>gAa	p.A449E	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A449E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAATTCTTGTGCATTTTCAGG	0.264																																																1	Substitution - Missense(1)	kidney(1)											35	36	36					1																	197159944		2190	4270	6460	SO:0001583	missense	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1346C>A	1.37:g.197159944G>T	ENSP00000356375:p.Ala449Glu		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934113	0.52866	.	.	ENSG00000177888	ENST00000367405	T	0.05447	3.44	5.89	4.98	0.66077	Zinc finger, C2H2 (1);	0.530450	0.15296	N	0.269888	T	0.05547	0.0146	N	0.25286	0.73	0.34264	D	0.680194	B	0.34214	0.442	B	0.34991	0.193	T	0.16364	-1.0405	10	0.62326	D	0.03	.	9.0674	0.36471	0.1602:0.0:0.8398:0.0	.	449	Q5SVQ8	ZBT41_HUMAN	E	449	ENSP00000356375:A449E	ENSP00000356375:A449E	A	-	2	0	ZBTB41	195426567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.935000	0.56560	2.801000	0.96364	0.650000	0.86243	GCA		0.264	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		T	197159944	G	T	197159944	3	4	392	1	0	0	0	0	1	0	0	0	17548	1319	46	4	1415	4	ZBTB41	1	197159944	Missense_Mutation	SNP	G	TCGA-BP-4977-01A-01D-1462-08	177992941	197159944	52090677	2	21649											
CAPN9	10753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	230891141	230891141	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr1:230891141A>G	ENST00000271971.2	+	2	385	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	CAPN9_ENST00000366666.2_Intron|CAPN9_ENST00000354537.1_Missense_Mutation_p.Q91R|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	91	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.Q91R(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GATATCTGCCAGGGAGAGCTG	0.547																																																2	Substitution - Missense(2)	kidney(2)											74	73	73					1																	230891141		2203	4300	6503	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.272A>G	1.37:g.230891141A>G	ENSP00000271971:p.Gln91Arg		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422434	0.83559	.	.	ENSG00000135773	ENST00000271971;ENST00000354537	T;T	0.31769	1.48;1.48	5.07	5.07	0.68467	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	H	0.99682	4.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.86666	0.1907	10	0.87932	D	0	.	14.8282	0.70130	1.0:0.0:0.0:0.0	.	91;91	O14815-2;O14815	.;CAN9_HUMAN	R	91	ENSP00000271971:Q91R;ENSP00000346538:Q91R	ENSP00000271971:Q91R	Q	+	2	0	CAPN9	228957764	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.922000	0.92789	1.905000	0.55150	0.533000	0.62120	CAG		0.547	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		G	230891141	A	G	230891141	3	3	392	1	0	0	0	0	1	0	0	0	2634	188	7	3	278	3	CAPN9	1	230891141	Missense_Mutation	SNP	A	TCGA-BP-4977-01A-01D-1462-08	33731197	230891141	18359480	3	21650											
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32693017	32693017	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr2:32693017T>G	ENST00000421745.2	+	28	5752	c.5618T>G	c.(5617-5619)aTc>aGc	p.I1873S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1873					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.I1845S(1)|p.I1873S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAGCCAAAATCCCATTAGGA	0.368																																					Pancreas(94;175 1509 16028 18060 45422)											2	Substitution - Missense(2)	kidney(2)											66	68	68					2																	32693017		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5618T>G	2.37:g.32693017T>G	ENSP00000393596:p.Ile1873Ser		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552725	0.86127	.	.	ENSG00000115760	ENST00000421745	D	0.82255	-1.59	5.9	5.9	0.94986	.	0.059642	0.64402	D	0.000003	D	0.90431	0.7004	M	0.70595	2.14	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	D	0.91345	0.5100	10	0.87932	D	0	.	16.378	0.83412	0.0:0.0:0.0:1.0	.	1873	Q9NR09	BIRC6_HUMAN	S	1873	ENSP00000393596:I1873S	ENSP00000393596:I1873S	I	+	2	0	BIRC6	32546521	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.846000	0.86887	2.277000	0.76020	0.529000	0.55759	ATC		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		G	32693017	T	G	32693017	3	3	392	1	0	0	0	0	1	0	0	0	1438	1435	50	5	5728	5	BIRC6	2	32693017	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08		32693017	210506356	4	21651											
RANBP2	5903	broad.mit.edu	37	2	109382975	109382975	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr2:109382975G>C	ENST00000283195.6	+	20	6106	c.5980G>C	c.(5980-5982)Ggt>Cgt	p.G1994R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1994					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G1994R(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAACACTTCCGGTGACTTTGA	0.393																																																2	Substitution - Missense(2)	kidney(2)											65	75	72					2																	109382975		1979	3965	5944	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5980G>C	2.37:g.109382975G>C	ENSP00000283195:p.Gly1994Arg		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	0.218	-1.031157	0.02029	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27104	1.69	5.64	-0.268	0.12934	.	.	.	.	.	T	0.12817	0.0311	N	0.22421	0.69	0.09310	N	1	B	0.25521	0.128	B	0.22386	0.039	T	0.28235	-1.0050	9	0.29301	T	0.29	-7.7395	2.2814	0.04115	0.1868:0.0961:0.3805:0.3366	.	1994	P49792	RBP2_HUMAN	R	1018;1994	ENSP00000283195:G1994R	ENSP00000283195:G1994R	G	+	1	0	RANBP2	108749407	0.675000	0.27558	0.049000	0.19019	0.197000	0.23852	1.246000	0.32803	0.021000	0.15133	-0.319000	0.08680	GGT		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		C	109382975	G	C	109382975	3	2	392	1	0	0	0	0	1	0	0	0	13034	1116	39	4	6058	4	RANBP2	2	109382975	Missense_Mutation	SNP	G	TCGA-BP-4977-01A-01D-1462-08	76689958	109382975	133816398	5	21652											
GALNT5	11227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158115425	158115425	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr2:158115425delT	ENST00000259056.4	+	1	1316	c.831delT	c.(829-831)cctfs	p.P277fs		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	277					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CGAGTCTTCCTTTTCCTAAGT	0.428																																																0													75	74	74					2																	158115425		2203	4300	6503	SO:0001589	frameshift_variant	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.831delT	2.37:g.158115425delT	ENSP00000259056:p.Pro277fs		A5PKZ1|Q9UGK7|Q9UHL6	Frame_Shift_Del	DEL	ENST00000259056.4	37	CCDS2203.1																																																																																				0.428	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		-	158115425	T	-	158115425	7	5	392	1	0	1	0	1	0	0	0	0	6218	1596	56	0	833	0	GALNT5	2	158115425	Frame_Shift_Del	DEL	T	TCGA-BP-4977-01A-01D-1462-08	48732450	158115425	85083948	6	21653											
COL5A2	1290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	189906379	189906379	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr2:189906379T>C	ENST00000374866.3	-	50	3840	c.3566A>G	c.(3565-3567)aAc>aGc	p.N1189S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1189					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.N1189S(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGCCCAGGGTTTCCTTCTTT	0.468																																																1	Substitution - Missense(1)	kidney(1)											117	115	116					2																	189906379		2203	4300	6503	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3566A>G	2.37:g.189906379T>C	ENSP00000364000:p.Asn1189Ser		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	6.554	0.470411	0.12461	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.93426	-3.22	5.72	3.36	0.38483	.	0.110902	0.39615	N	0.001316	T	0.80507	0.4636	N	0.04297	-0.235	0.28025	N	0.934371	B;B	0.14438	0.001;0.01	B;B	0.15052	0.006;0.012	T	0.66352	-0.5945	10	0.07325	T	0.83	.	8.8748	0.35339	0.0:0.2121:0.0:0.7879	.	829;1189	Q5PR22;P05997	.;CO5A2_HUMAN	S	1189;829	ENSP00000364000:N1189S	ENSP00000364000:N1189S	N	-	2	0	COL5A2	189614624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.830000	0.48136	1.103000	0.41568	0.528000	0.53228	AAC		0.468	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		C	189906379	T	C	189906379	3	2	392	1	0	0	0	0	1	0	0	0	3699	1725	60	3	953	3	COL5A2	2	189906379	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08	31790954	189906379	53292994	7	21654											
SERPINE2	5270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	224866441	224866441	+	Silent	SNP	C	C	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr2:224866441C>T	ENST00000258405.4	-	2	419	c.177G>A	c.(175-177)gcG>gcA	p.A59A	SERPINE2_ENST00000409304.1_Silent_p.A59A|SERPINE2_ENST00000447280.2_Silent_p.A71A|SERPINE2_ENST00000409840.3_Silent_p.A59A	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	59					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A59A(1)|p.A71A(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCAGGACCGACGCAATCCCAT	0.562																																																2	Substitution - coding silent(2)	kidney(2)											100	92	95					2																	224866441		2203	4300	6503	SO:0001819	synonymous_variant	5270			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.177G>A	2.37:g.224866441C>T			B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	CCDS2460.1																																																																																				0.562	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		T	224866441	C	T	224866441	2	4	392	1	0	0	0	0	0	0	0	1	14118	523	19	1		1	SERPINE2	2	224866441	Silent	SNP	C	TCGA-BP-4977-01A-01D-1462-08	34960062	224866441	18332932	8	21655											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191611	10191612	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	AC	AC	AC	-	AC	AC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr3:10191611_10191612delAC	ENST00000256474.2	+	3	1444_1445	c.604_605delAC	c.(604-606)acafs	p.T202fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.T161fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	202					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.T202fs*11(1)|p.E199fs*14(1)|p.L198fs*11(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGAGCGGCTGACACAGGAGCGC	0.475		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	3	Deletion - Frameshift(3)	kidney(3)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.604_605delAC	3.37:g.10191613_10191614delAC	ENSP00000256474:p.Thr202fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.475	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191612	AC	-	10191611	7	5	392	1	0	1	0	1	0	0	0	0	17167	275	10	0	614	0	VHL	3	10191611	Frame_Shift_Del	DEL	AC	TCGA-BP-4977-01A-01D-1462-08		10191611	187830819	9	21656											
MBD4	8930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	129152917	129152917	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr3:129152917A>G	ENST00000249910.1	-	4	1439	c.1264T>C	c.(1264-1266)Tat>Cat	p.Y422H	MBD4_ENST00000503197.1_Missense_Mutation_p.Y422H|MBD4_ENST00000393278.2_Missense_Mutation_p.Y104H|MBD4_ENST00000507208.1_Missense_Mutation_p.Y422H|MBD4_ENST00000429544.2_Missense_Mutation_p.Y416H|MBD4_ENST00000509587.1_5'UTR	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	422					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.Y422H(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TCTTTGTTATATTTGCTGGAA	0.368								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	kidney(1)											181	176	177					3																	129152917		2203	4300	6503	SO:0001583	missense	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1264T>C	3.37:g.129152917A>G	ENSP00000249910:p.Tyr422His		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416325	0.25552	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	D;D;D;T;D	0.93076	-2.96;-2.95;-3.16;1.44;-3.15	5.71	4.57	0.56435	.	0.436856	0.25674	N	0.029047	D	0.89556	0.6749	L	0.55103	1.725	0.30353	N	0.784601	P;B;P;B;P	0.39737	0.558;0.233;0.685;0.328;0.558	B;B;B;B;B	0.39027	0.148;0.066;0.288;0.104;0.208	D	0.85319	0.1083	10	0.20519	T	0.43	-15.7169	9.0611	0.36436	0.8606:0.0:0.1394:0.0	.	422;104;416;422;422	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	H	416;422;422;104;422	ENSP00000394080:Y416H;ENSP00000249910:Y422H;ENSP00000424873:Y422H;ENSP00000376959:Y104H;ENSP00000422327:Y422H	ENSP00000249910:Y422H	Y	-	1	0	MBD4	130635607	0.997000	0.39634	0.969000	0.41365	0.955000	0.61496	2.193000	0.42658	2.197000	0.70478	0.529000	0.55759	TAT		0.368	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		G	129152917	A	G	129152917	3	3	392	1	0	0	0	0	1	0	0	0	9348	449	16	3	498	3	MBD4	3	129152917	Missense_Mutation	SNP	A	TCGA-BP-4977-01A-01D-1462-08	118961306	129152917	68869513	10	21657											
TMEM165	55858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	56277929	56277929	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr4:56277929T>C	ENST00000381334.5	+	2	589	c.356T>C	c.(355-357)aTc>aCc	p.I119T	TMEM165_ENST00000542052.1_Missense_Mutation_p.I56T|TMEM165_ENST00000506198.1_Intron|Y_RNA_ENST00000459077.1_RNA	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	119					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.I119T(1)		endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			ATAGCAGCCATCATGGCAATG	0.443																																																1	Substitution - Missense(1)	kidney(1)											119	102	108					4																	56277929		2203	4300	6503	SO:0001583	missense	55858			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.356T>C	4.37:g.56277929T>C	ENSP00000370736:p.Ile119Thr		A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	ENST00000381334.5	37	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431414	0.83776	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.82344	-1.6;-1.6	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.88470	0.6445	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.951;1.0	D	0.88293	0.2944	10	0.46703	T	0.11	-18.7599	15.6016	0.76628	0.0:0.0:0.0:1.0	.	56;119	B4DHW1;Q9HC07	.;TM165_HUMAN	T	119;56	ENSP00000370736:I119T;ENSP00000437816:I56T	ENSP00000370736:I119T	I	+	2	0	TMEM165	55972686	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.492000	0.81482	2.258000	0.74832	0.533000	0.62120	ATC		0.443	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		C	56277929	T	C	56277929	3	2	392	1	0	0	0	0	1	0	0	0	16085	1435	50	3	362	3	TMEM165	4	56277929	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08		56277929	134876347	11	21658											
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127714472	127714472	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr5:127714472G>A	ENST00000508053.1	-	18	2689	c.1715C>T	c.(1714-1716)gCa>gTa	p.A572V	FBN2_ENST00000511489.1_5'Flank|FBN2_ENST00000262464.4_Missense_Mutation_p.A572V|FBN2_ENST00000508989.1_Missense_Mutation_p.A539V			P35556	FBN2_HUMAN	fibrillin 2	572	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.A572V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCAATGCATGCTTGCTTGGT	0.378																																																2	Substitution - Missense(2)	kidney(2)											97	91	93					5																	127714472		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1715C>T	5.37:g.127714472G>A	ENSP00000424571:p.Ala572Val		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540921	0.65085	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92149	-2.98;-2.98;-2.98	4.26	4.26	0.50523	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.080793	0.49916	D	0.000135	D	0.91566	0.7336	N	0.12569	0.235	0.50313	D	0.999863	D;D	0.69078	0.973;0.997	P;D	0.70716	0.846;0.97	D	0.92543	0.6043	10	0.48119	T	0.1	.	17.9883	0.89161	0.0:0.0:1.0:0.0	.	539;572	D6RJI3;P35556	.;FBN2_HUMAN	V	572;572;539	ENSP00000262464:A572V;ENSP00000424571:A572V;ENSP00000425596:A539V	ENSP00000262464:A572V	A	-	2	0	FBN2	127742371	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.185000	0.58330	2.654000	0.90174	0.655000	0.94253	GCA		0.378	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127714472	G	A	127714472	3	1	392	1	0	0	0	0	1	0	0	0	5705	1319	46	2	7239	2	FBN2	5	127714472	Missense_Mutation	SNP	G	TCGA-BP-4977-01A-01D-1462-08		127714472	53200788	12	21659											
SLC22A4	6583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131671519	131671519	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr5:131671519T>A	ENST00000200652.3	+	8	1444	c.1270T>A	c.(1270-1272)Ttc>Atc	p.F424I	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	424					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.F424I(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AGATTATTACTTCTTATCCAT	0.408																																																1	Substitution - Missense(1)	kidney(1)											187	190	189					5																	131671519		2203	4300	6503	SO:0001583	missense	6583			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1270T>A	5.37:g.131671519T>A	ENSP00000200652:p.Phe424Ile		O14546	Missense_Mutation	SNP	ENST00000200652.3	37	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	T	5.030	0.191140	0.09547	.	.	ENSG00000197208	ENST00000200652	T	0.57595	0.39	5.33	1.37	0.22104	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.678925	0.15860	N	0.241067	T	0.23532	0.0569	N	0.03917	-0.325	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19484	-1.0304	10	0.18710	T	0.47	.	6.5722	0.22545	0.3186:0.0:0.392:0.2894	.	424	Q9H015	S22A4_HUMAN	I	424	ENSP00000200652:F424I	ENSP00000200652:F424I	F	+	1	0	SLC22A4	131699418	0.000000	0.05858	0.475000	0.27278	0.385000	0.30292	-0.425000	0.07017	0.002000	0.14630	0.519000	0.50382	TTC		0.408	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		A	131671519	T	A	131671519	3	1	392	1	0	0	0	0	1	0	0	0	14462	1609	56	5	1300	5	SLC22A4	5	131671519	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08	3957047	131671519	49243741	13	21660											
RXRB	6257	broad.mit.edu	37	6	33168094	33168094	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr6:33168094delC	ENST00000374680.3	-	1	371	c.160delG	c.(160-162)gcafs	p.A54fs	RXRB_ENST00000544186.1_Intron|RXRB_ENST00000413614.2_Frame_Shift_Del_p.W40fs|SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000374685.4_Frame_Shift_Del_p.A54fs|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	54	Modulating. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCTccgcctgccaccgccgcc	0.741																																																0													4	6	5					6																	33168094		1357	2451	3808	SO:0001589	frameshift_variant	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.160delG	6.37:g.33168094delC	ENSP00000363812:p.Ala54fs		P28703|Q59G65|Q5JP92|Q5STQ1	Frame_Shift_Del	DEL	ENST00000374680.3	37	CCDS4768.1																																																																																				0.741	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		-	33168094	C	-	33168094	7	5	392	1	0	1	0	1	0	0	0	0	13770	739	26	0	1481	0	RXRB	6	33168094	Frame_Shift_Del	DEL	C	TCGA-BP-4977-01A-01D-1462-08		33168094	137946973	14	21661											
SEC63	11231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	108227661	108227661	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr6:108227661G>A	ENST00000369002.4	-	10	1131	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	318	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L318F(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CCTTCTTCAAGGGTCTCAGGA	0.393																																																1	Substitution - Missense(1)	kidney(1)											108	114	112					6																	108227661		2203	4300	6503	SO:0001583	missense	11231			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.952C>T	6.37:g.108227661G>A	ENSP00000357998:p.Leu318Phe		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810832	0.70797	.	.	ENSG00000025796	ENST00000369002;ENST00000423697	T	0.73152	-0.72	5.36	5.36	0.76844	Sec63 domain (3);	0.064410	0.64402	D	0.000011	T	0.79569	0.4468	M	0.76170	2.325	0.58432	D	0.999999	D;D	0.71674	0.998;0.993	D;D	0.78314	0.991;0.911	T	0.81602	-0.0858	10	0.72032	D	0.01	-12.9498	12.7673	0.57399	0.0755:0.0:0.9245:0.0	.	318;318	Q9UGP8;B3KQF0	SEC63_HUMAN;.	F	318;178	ENSP00000357998:L318F	ENSP00000357998:L318F	L	-	1	0	SEC63	108334354	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.988000	0.49386	2.663000	0.90544	0.467000	0.42956	CTT		0.393	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		A	108227661	G	A	108227661	3	1	392	1	0	0	0	0	1	0	0	0	14011	1000	35	2	1378	2	SEC63	6	108227661	Missense_Mutation	SNP	G	TCGA-BP-4977-01A-01D-1462-08	75059567	108227661	62887406	15	21662											
CCDC129	223075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	31683360	31683360	+	Silent	SNP	C	C	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr7:31683360C>A	ENST00000407970.3	+	11	2414	c.2376C>A	c.(2374-2376)atC>atA	p.I792I	CCDC129_ENST00000319386.3_Silent_p.I644I|CCDC129_ENST00000409210.1_Silent_p.I700I|CCDC129_ENST00000451887.2_Silent_p.I818I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	792								p.I644I(1)|p.I792I(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCTCTAGTATCTGCCCAATGG	0.562																																																2	Substitution - coding silent(2)	kidney(2)											80	69	73					7																	31683360		2203	4300	6503	SO:0001819	synonymous_variant	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2376C>A	7.37:g.31683360C>A			A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	CCDS5435.2																																																																																				0.562	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		A	31683360	C	A	31683360	2	1	392	1	0	0	0	0	0	0	0	1	2766	903	32	4		4	CCDC129	7	31683360	Silent	SNP	C	TCGA-BP-4977-01A-01D-1462-08		31683360	127455303	16	21663											
AEBP1	165	broad.mit.edu	37	7	44147521	44147521	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr7:44147521G>A	ENST00000223357.3	+	5	1158	c.853G>A	c.(853-855)Gag>Aag	p.E285K	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	285	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E285K(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGCCCCGGAGGAGAGGATTGG	0.711																																																1	Substitution - Missense(1)	kidney(1)											8	10	9					7																	44147521		2163	4230	6393	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.853G>A	7.37:g.44147521G>A	ENSP00000223357:p.Glu285Lys		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313844	0.40996	.	.	ENSG00000106624	ENST00000223357	D	0.94931	-3.56	5.05	4.16	0.48862	.	5.266990	0.00166	N	0.000000	D	0.89347	0.6689	N	0.24115	0.695	0.80722	D	1	B	0.26400	0.148	B	0.19946	0.027	T	0.70274	-0.4917	10	0.07175	T	0.84	-2.4487	9.3715	0.38256	0.1004:0.0:0.8996:0.0	.	285	Q8IUX7	AEBP1_HUMAN	K	285	ENSP00000223357:E285K	ENSP00000223357:E285K	E	+	1	0	AEBP1	44114046	0.985000	0.35326	0.384000	0.26145	0.505000	0.33919	0.997000	0.29731	1.120000	0.41904	0.491000	0.48974	GAG		0.711	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		A	44147521	G	A	44147521	3	1	392	1	0	0	0	0	1	0	0	0	349	1175	41	2	871	2	AEBP1	7	44147521	Missense_Mutation	SNP	G	TCGA-BP-4977-01A-01D-1462-08	12464161	44147521	114991142	17	21664											
COBL	23242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	51261213	51261213	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr7:51261213T>A	ENST00000265136.7	-	3	484	c.319A>T	c.(319-321)Att>Ttt	p.I107F	COBL_ENST00000441453.1_Missense_Mutation_p.I107F|COBL_ENST00000395542.2_Missense_Mutation_p.I107F|COBL_ENST00000395540.2_Missense_Mutation_p.I107F	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	107					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.I107F(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GAAGACCGAATTTCAAGGGCA	0.413																																					NSCLC(189;2119 2138 12223 30818 34679)											1	Substitution - Missense(1)	kidney(1)											95	85	89					7																	51261213		2203	4300	6503	SO:0001583	missense	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.319A>T	7.37:g.51261213T>A	ENSP00000265136:p.Ile107Phe		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.28|18.28	3.589225|3.589225	0.66105|0.66105	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281|ENST00000452534	T;T|.	0.12147|.	2.72;2.71|.	5.58|5.58	2.0|2.0	0.26442|0.26442	Cordon-bleu domain (1);|.	0.000000|.	0.40385|.	N|.	0.001108|.	T|T	0.47078|0.47078	0.1426|0.1426	L|L	0.54323|0.54323	1.7|1.7	0.37104|0.37104	D|D	0.900017|0.900017	D;P;D;P;D|.	0.65815|.	0.97;0.692;0.97;0.891;0.995|.	P;B;P;P;D|.	0.62955|.	0.775;0.23;0.775;0.763;0.909|.	T|T	0.47262|0.47262	-0.9131|-0.9131	10|5	0.66056|.	D|.	0.02|.	.|.	1.4596|1.4596	0.02393|0.02393	0.1235:0.2938:0.2541:0.3286|0.1235:0.2938:0.2541:0.3286	.|.	107;107;107;107;107|.	O75128-3;O75128-5;O75128-7;O75128;O75128-2|.	.;.;.;COBL_HUMAN;.|.	F|I	107;107;107;107;91|25	ENSP00000265136:I107F;ENSP00000378912:I107F|.	ENSP00000265136:I107F|.	I|N	-|-	1|2	0|0	COBL|COBL	51228707|51228707	0.998000|0.998000	0.40836|0.40836	0.987000|0.987000	0.45799|0.45799	0.962000|0.962000	0.63368|0.63368	0.356000|0.356000	0.20181|0.20181	0.397000|0.397000	0.25310|0.25310	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.413	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		A	51261213	T	A	51261213	3	1	392	1	0	0	0	0	1	0	0	0	3655	1493	52	5	3510	5	COBL	7	51261213	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08	7113692	51261213	107877450	18	21665											
AKR1B10	57016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134221461	134221461	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr7:134221461C>G	ENST00000359579.4	+	5	809	c.489C>G	c.(487-489)agC>agG	p.S163R	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	163					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)	p.S163R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CCAATTTCAGCCACTTCCAGA	0.483																																																1	Substitution - Missense(1)	kidney(1)											81	85	84					7																	134221461		2203	4300	6503	SO:0001583	missense	57016			AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"Aldo-keto reductases"	382	protein-coding gene	gene with protein product	"aldose reductase-like 1", "aldo-keto reductase family 1, member B11 (aldose reductase-like)", "aldose reductase-like peptide", "aldose reductase-related protein", "small intestine reductase"	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.489C>G	7.37:g.134221461C>G	ENSP00000352584:p.Ser163Arg		A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	-	15.48	2.847427	0.51164	.	.	ENSG00000198074	ENST00000359579	T	0.19394	2.15	4.75	3.86	0.44501	NADP-dependent oxidoreductase domain (3);	0.044468	0.85682	D	0.000000	T	0.25232	0.0613	L	0.45051	1.395	0.31896	N	0.61658	B	0.24258	0.1	B	0.37731	0.257	T	0.33879	-0.9851	10	0.87932	D	0	.	12.2164	0.54408	0.0:0.916:0.0:0.084	.	163	O60218	AK1BA_HUMAN	R	163	ENSP00000352584:S163R	ENSP00000352584:S163R	S	+	3	2	AKR1B10	133872001	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.844000	0.48246	1.123000	0.41961	0.556000	0.70494	AGC		0.483	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		G	134221461	C	G	134221461	3	3	392	1	0	0	0	0	1	0	0	0	467	738	26	4	507	4	AKR1B10	7	134221461	Missense_Mutation	SNP	C	TCGA-BP-4977-01A-01D-1462-08	82960248	134221461	24917202	19	21666											
RNF32	140545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	156450264	156450264	+	Silent	SNP	C	C	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr7:156450264C>T	ENST00000405335.1	+	6	856	c.447C>T	c.(445-447)caC>caT	p.H149H	RNF32_ENST00000343665.4_Intron|RNF32_ENST00000317955.5_Silent_p.H149H|RNF32_ENST00000480011.1_3'UTR|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000432459.2_Silent_p.H149H|RNF32_ENST00000392743.2_Silent_p.H149H|RNF32_ENST00000311822.8_Silent_p.H149H|RNF32_ENST00000392741.2_Silent_p.H149H			Q9H0A6	RNF32_HUMAN	ring finger protein 32	149						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)	p.H149H(2)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATGTGTTCCACAAAGTAAGTC	0.473																																																2	Substitution - coding silent(2)	kidney(2)											200	177	185					7																	156450264		2203	4300	6503	SO:0001819	synonymous_variant	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.447C>T	7.37:g.156450264C>T			Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	ENST00000405335.1	37	CCDS5944.1																																																																																				0.473	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		T	156450264	C	T	156450264	2	4	392	1	0	0	0	0	0	0	0	1	13494	477	17	2		2	RNF32	7	156450264	Silent	SNP	C	TCGA-BP-4977-01A-01D-1462-08	22228803	156450264	2688399	20	21667											
ZNF782	158431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	99581317	99581317	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr9:99581317T>C	ENST00000481138.1	-	6	1649	c.988A>G	c.(988-990)Aga>Gga	p.R330G	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Missense_Mutation_p.R198G	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R330G(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GCATGAGTTCTCTGATGCACT	0.398																																																1	Substitution - Missense(1)	kidney(1)											140	132	135					9																	99581317		2203	4300	6503	SO:0001583	missense	158431			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.988A>G	9.37:g.99581317T>C	ENSP00000419397:p.Arg330Gly		B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.81|10.81	1.454305|1.454305	0.26161|0.26161	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338	.|T;T	.|0.19105	.|2.17;2.17	3.52|3.52	1.2|1.2	0.21068|0.21068	.|Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.742875	.|0.11080	.|N	.|0.601902	T|T	0.18215|0.18215	0.0437|0.0437	L|L	0.55834|0.55834	1.745|1.745	0.22366|0.22366	N|N	0.999161|0.999161	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.28170|0.28170	-1.0052|-1.0052	5|9	.|.	.|.	.|.	.|.	6.6217|6.6217	0.22806|0.22806	0.0:0.2143:0.0:0.7857|0.0:0.2143:0.0:0.7857	.|.	.|330	.|Q6ZMW2	.|ZN782_HUMAN	G|G	318|330;198	.|ENSP00000419397:R330G;ENSP00000440624:R198G	.|.	E|R	-|-	2|1	0|2	ZNF782|ZNF782	98621138|98621138	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.011000|0.011000	0.07611|0.07611	-0.388000|-0.388000	0.07352|0.07352	0.247000|0.247000	0.21414|0.21414	-0.287000|-0.287000	0.09952|0.09952	GAG|AGA		0.398	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		C	99581317	T	C	99581317	3	2	392	1	0	0	0	0	1	0	0	0	18160	1559	54	3	1115	3	ZNF782	9	99581317	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08		99581317	41632114	21	21668											
TNC	3371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	117840239	117840239	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr9:117840239T>A	ENST00000350763.4	-	7	3068	c.2657A>T	c.(2656-2658)aAa>aTa	p.K886I	TNC_ENST00000535648.1_Missense_Mutation_p.K886I|TNC_ENST00000345230.3_Missense_Mutation_p.K886I|TNC_ENST00000340094.3_Missense_Mutation_p.K886I|TNC_ENST00000537320.1_Missense_Mutation_p.K886I|TNC_ENST00000346706.3_Missense_Mutation_p.K886I|TNC_ENST00000341037.4_Missense_Mutation_p.K886I|TNC_ENST00000423613.2_Missense_Mutation_p.K886I|TNC_ENST00000542877.1_Missense_Mutation_p.K886I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	886	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.K886I(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAAGGTCTCTTTGGCTGGGTT	0.498																																																1	Substitution - Missense(1)	kidney(1)											127	109	115					9																	117840239		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2657A>T	9.37:g.117840239T>A	ENSP00000265131:p.Lys886Ile		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.274612	0.40194	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.53423	0.62;3.66;0.87;3.66;3.66;3.66;3.66;3.66;3.66	5.48	1.73	0.24493	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.491231	0.23748	N	0.044945	T	0.27629	0.0679	N	0.16903	0.455	0.30103	N	0.807281	B;B	0.22211	0.066;0.003	B;B	0.20184	0.028;0.011	T	0.13872	-1.0493	10	0.52906	T	0.07	.	6.4719	0.22013	0.0:0.1374:0.3759:0.4866	.	886;886	E9PC84;P24821	.;TENA_HUMAN	I	886	ENSP00000344400:K886I;ENSP00000438152:K886I;ENSP00000344555:K886I;ENSP00000345861:K886I;ENSP00000265131:K886I;ENSP00000339553:K886I;ENSP00000411406:K886I;ENSP00000443478:K886I;ENSP00000442242:K886I	ENSP00000344400:K886I	K	-	2	0	TNC	116880060	0.005000	0.15991	0.990000	0.47175	0.817000	0.46193	-0.065000	0.11617	0.104000	0.17725	0.533000	0.62120	AAA		0.498	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117840239	T	A	117840239	3	1	392	1	0	0	0	0	1	0	0	0	16275	1841	64	5	4036	5	TNC	9	117840239	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08	18258922	117840239	23373192	22	21669											
LHX6	26468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	124975917	124975917	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr9:124975917G>A	ENST00000373755.2	-	7	1043	c.935C>T	c.(934-936)gCg>gTg	p.A312V	LHX6_ENST00000373754.2_Missense_Mutation_p.A312V|LHX6_ENST00000394319.4_Missense_Mutation_p.A341V|LHX6_ENST00000340587.3_Missense_Mutation_p.A341V|LHX6_ENST00000464484.2_5'UTR|LHX6_ENST00000541397.2_Missense_Mutation_p.A330V|LHX6_ENST00000482062.1_5'UTR|LHX6_ENST00000559895.1_Missense_Mutation_p.A125V	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	312					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A341V(2)		endometrium(2)|kidney(1)|large_intestine(5)	8						GACCATGCGCGCCCGCTCGGG	0.736																																																2	Substitution - Missense(2)	kidney(2)											21	31	28					9																	124975917		2202	4298	6500	SO:0001583	missense	26468			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.935C>T	9.37:g.124975917G>A	ENSP00000362860:p.Ala312Val		A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	ENST00000373755.2	37	CCDS56583.1	.	.	.	.	.	.	.	.	.	.	G	35	5.534838	0.96460	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	D;D;D;D;D	0.87809	-2.27;-2.3;-2.16;-2.17;-2.2	5.58	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	L	0.27053	0.805	0.80722	D	1	P;P;P	0.49783	0.731;0.928;0.824	B;B;B	0.42163	0.139;0.378;0.27	T	0.81337	-0.0978	10	0.41790	T	0.15	.	15.7084	0.77606	0.0:0.1368:0.8632:0.0	.	312;341;341	Q9UPM6;Q9UPM6-4;Q9UPM6-3	LHX6_HUMAN;.;.	V	312;312;341;341;330	ENSP00000362860:A312V;ENSP00000362859:A312V;ENSP00000377854:A341V;ENSP00000340137:A341V;ENSP00000441464:A330V	ENSP00000340137:A341V	A	-	2	0	LHX6	124015738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.296000	0.72751	1.330000	0.45394	0.650000	0.86243	GCG		0.736	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		A	124975917	G	A	124975917	3	1	392	1	0	0	0	0	1	0	0	0	8777	1087	38	1	227	1	LHX6	9	124975917	Missense_Mutation	SNP	G	TCGA-BP-4977-01A-01D-1462-08	7135678	124975917	16237514	23	21670											
MAMDC4	158056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139748706	139748706	+	Silent	SNP	C	C	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr9:139748706C>T	ENST00000317446.2	+	7	764	c.714C>T	c.(712-714)aaC>aaT	p.N238N	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.N238N	NM_206920.2	NP_996803.2			MAM domain containing 4									p.N238N(2)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ACTGCCAGAACAAGGTCTGCG	0.672																																																2	Substitution - coding silent(2)	kidney(2)											25	27	26					9																	139748706		2193	4296	6489	SO:0001819	synonymous_variant	158056			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.714C>T	9.37:g.139748706C>T				Silent	SNP	ENST00000317446.2	37	CCDS7010.1	.	.	.	.	.	.	.	.	.	.	.	5.405	0.259952	0.10239	.	.	ENSG00000177943	ENST00000413647	.	.	.	4.48	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.21499	N	0.99967	.	.	.	.	.	.	.	.	.	.	.	.	.	-45.2408	7.1563	0.25639	0.0:0.7194:0.0:0.2806	.	.	.	.	X	220	.	.	Q	+	1	0	MAMDC4	138868527	0.002000	0.14202	0.052000	0.19188	0.727000	0.41649	0.010000	0.13242	0.522000	0.28464	-0.291000	0.09656	CAA		0.672	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		T	139748706	C	T	139748706	2	4	392	1	0	0	0	0	0	0	0	1	9206	477	17	2		2	MAMDC4	9	139748706	Silent	SNP	C	TCGA-BP-4977-01A-01D-1462-08	14772789	139748706	1464725	24	21671											
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	17151661	17151661	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr10:17151661A>T	ENST00000377833.4	-	10	1154	c.1089T>A	c.(1087-1089)gaT>gaA	p.D363E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	363	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.D363E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCATGAGGCATCTGGGTGGC	0.453																																																1	Substitution - Missense(1)	kidney(1)											184	127	146					10																	17151661		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1089T>A	10.37:g.17151661A>T	ENSP00000367064:p.Asp363Glu		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.810101	0.00004	.	.	ENSG00000107611	ENST00000377833	D	0.89875	-2.58	5.64	-11.3	0.00108	EGF domain, merozoite surface protein 1-like (1);Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.079030	0.07326	N	0.878349	T	0.71013	0.3290	N	0.25426	0.745	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.68815	-0.5309	10	0.02654	T	1	.	1.5415	0.02556	0.1641:0.2739:0.2634:0.2986	.	363	O60494	CUBN_HUMAN	E	363	ENSP00000367064:D363E	ENSP00000367064:D363E	D	-	3	2	CUBN	17191667	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-2.865000	0.00724	-8.331000	0.00000	-2.052000	0.00405	GAT		0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	17151661	A	T	17151661	3	4	392	1	0	0	0	0	1	0	0	0	4053	214	8	5	10014	5	CUBN	10	17151661	Missense_Mutation	SNP	A	TCGA-BP-4977-01A-01D-1462-08		17151661	118383086	25	21672											
C10orf107	219621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	63520664	63520664	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr10:63520664C>T	ENST00000330194.2	+	6	760	c.455C>T	c.(454-456)aCt>aTt	p.T152I		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	152								p.T152I(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CAGCCAGAAACTGACACCTCA	0.408																																																1	Substitution - Missense(1)	kidney(1)											106	101	102					10																	63520664		2203	4299	6502	SO:0001583	missense	219621			BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.455C>T	10.37:g.63520664C>T	ENSP00000328698:p.Thr152Ile		Q5T1B8	Missense_Mutation	SNP	ENST00000330194.2	37	CCDS7262.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301045	0.40694	.	.	ENSG00000183346	ENST00000330194	.	.	.	6.17	-1.71	0.08133	.	0.822638	0.11054	N	0.604750	T	0.23846	0.0577	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.21143	-1.0254	9	0.56958	D	0.05	0.0025	5.6248	0.17477	0.2338:0.2862:0.4132:0.0668	.	152	Q8IVU9	CJ107_HUMAN	I	152	.	ENSP00000328698:T152I	T	+	2	0	C10orf107	63190670	0.002000	0.14202	0.001000	0.08648	0.137000	0.21094	-0.028000	0.12350	-0.141000	0.11374	-0.182000	0.12963	ACT		0.408	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554		T	63520664	C	T	63520664	3	4	392	1	0	0	0	0	1	0	0	0	1583	565	20	2	473	2	C10orf107	10	63520664	Missense_Mutation	SNP	C	TCGA-BP-4977-01A-01D-1462-08	46369003	63520664	72014083	26	21673											
ATE1	11101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	123503288	123503288	+	Silent	SNP	C	C	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr10:123503288C>T	ENST00000224652.6	-	12	1549	c.1464G>A	c.(1462-1464)caG>caA	p.Q488Q	ATE1_ENST00000369043.3_Silent_p.Q488Q|ATE1_ENST00000535655.1_Silent_p.Q189Q|ATE1_ENST00000369040.3_Silent_p.Q392Q|ATE1_ENST00000540606.1_Silent_p.Q481Q|ATE1_ENST00000543447.1_Silent_p.Q373Q	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	488					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)	p.Q488Q(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGTCTTTCTGCTGTTTCTTAT	0.522																																																2	Substitution - coding silent(2)	kidney(2)											119	101	107					10																	123503288		2203	4300	6503	SO:0001819	synonymous_variant	11101			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1464G>A	10.37:g.123503288C>T			O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	C	4.785	0.145985	0.09134	.	.	ENSG00000107669	ENST00000423243	.	.	.	5.02	-2.34	0.06704	.	.	.	.	.	T	0.26955	0.0660	.	.	.	0.29869	N	0.826959	.	.	.	.	.	.	T	0.36625	-0.9740	4	.	.	.	.	4.268	0.10773	0.1036:0.4136:0.345:0.1378	.	.	.	.	T	485	.	.	A	-	1	0	ATE1	123493278	0.991000	0.36638	0.003000	0.11579	0.734000	0.41952	0.370000	0.20433	-0.065000	0.13021	-0.825000	0.03093	GCA		0.522	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		T	123503288	C	T	123503288	2	4	392	1	0	0	0	0	0	0	0	1	1078	796	28	2		2	ATE1	10	123503288	Silent	SNP	C	TCGA-BP-4977-01A-01D-1462-08	59982624	123503288	12031459	27	21674											
MOB2	81532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1491652	1491652	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr11:1491652A>T	ENST00000329957.6	-	5	746	c.557T>A	c.(556-558)cTg>cAg	p.L186Q	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	155					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.L186Q(2)		breast(1)|kidney(2)|lung(1)	4						GATGTGTGCCAGCACGTGGAA	0.582																																																2	Substitution - Missense(2)	kidney(2)											106	116	113					11																	1491652		2127	4226	6353	SO:0001583	missense	81532				CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"MOB kinase activators"	24904	protein-coding gene	gene with protein product	"MOB2 Mps One Binder homolog (yeast)"	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.557T>A	11.37:g.1491652A>T	ENSP00000328694:p.Leu186Gln		B4DKP3|Q96M67	Missense_Mutation	SNP	ENST00000329957.6	37	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117017	0.56505	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.05	4.05	0.47172	.	0.000000	0.64402	D	0.000004	T	0.76948	0.4059	M	0.76002	2.32	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.73380	0.98;0.941	T	0.80301	-0.1440	9	0.72032	D	0.01	-16.5387	13.1663	0.59573	1.0:0.0:0.0:0.0	.	186;155	E9PDA5;Q70IA6	.;MOB2_HUMAN	Q	186	.	ENSP00000328694:L186Q	L	-	2	0	AC091196.1	1448228	1.000000	0.71417	0.999000	0.59377	0.233000	0.25261	8.533000	0.90617	1.712000	0.51347	0.379000	0.24179	CTG		0.582	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		T	1491652	A	T	1491652	3	4	392	1	0	0	0	0	1	0	0	0	9683	188	7	5	253	5	MOB2	11	1491652	Missense_Mutation	SNP	A	TCGA-BP-4977-01A-01D-1462-08		1491652	133514864	28	21675											
C11orf73	51501	broad.mit.edu;hgsc.bcm.edu	37	11	86048459	86048459	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr11:86048459G>A	ENST00000278483.3	+	3	533	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	C11orf73_ENST00000533986.1_Missense_Mutation_p.V103I|C11orf73_ENST00000530208.1_3'UTR	NM_016401.3	NP_057485.2	Q53FT3	HIKES_HUMAN	chromosome 11 open reading frame 73	103					cellular response to heat (GO:0034605)|Golgi organization (GO:0007030)|lung development (GO:0030324)|protein import into nucleus (GO:0006606)|protein transport (GO:0015031)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	Hsp70 protein binding (GO:0030544)|protein transporter activity (GO:0008565)	p.V103I(1)		kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				CATGAATATTGTCCGAACTCC	0.393																																																1	Substitution - Missense(1)	kidney(1)											171	160	164					11																	86048459		2202	4299	6501	SO:0001583	missense	51501			BC015991	CCDS8275.1	11q14.2	2013-03-12			ENSG00000149196	ENSG00000149196			26938	protein-coding gene	gene with protein product		614908				11042152, 22541429	Standard	NM_016401		Approved	HSPC138, HSPC179, Hikeshi, OPI10	uc001pbu.3	Q53FT3	OTTHUMG00000167212	ENST00000278483.3:c.307G>A	11.37:g.86048459G>A	ENSP00000278483:p.Val103Ile		Q8WVE8|Q9NVQ2|Q9NZZ1|Q9P022|Q9P0N1	Missense_Mutation	SNP	ENST00000278483.3	37	CCDS8275.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489353	0.26686	.	.	ENSG00000149196	ENST00000533986;ENST00000278483	T;T	0.42900	0.97;0.96	5.15	3.24	0.37175	.	0.324544	0.26824	N	0.022320	T	0.18964	0.0455	N	0.08118	0	0.25909	N	0.983258	B;B	0.10296	0.0;0.003	B;B	0.09377	0.003;0.004	T	0.14476	-1.0471	9	.	.	.	-12.3005	6.9504	0.24542	0.1742:0.254:0.5718:0.0	.	103;103	Q53FT3;E9PPG8	CK073_HUMAN;.	I	103	ENSP00000432699:V103I;ENSP00000278483:V103I	.	V	+	1	0	C11orf73	85726107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.487000	0.45268	1.300000	0.44818	0.555000	0.69702	GTC		0.393	C11orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393747.1	NM_016401		A	86048459	G	A	86048459	3	1	392	1	0	0	0	0	1	0	0	0	1663	1377	48	2	317	2	C11orf73	11	86048459	Missense_Mutation	SNP	G	TCGA-BP-4977-01A-01D-1462-08	84556807	86048459	48958057	29	21676											
PARP11	57097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	3939160	3939160	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr12:3939160A>T	ENST00000228820.4	-	2	187	c.43T>A	c.(43-45)Tta>Ata	p.L15I	PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.L8I|PARP11_ENST00000447133.3_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	8	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L8I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTAGAAAATAATTCTTCTGCT	0.373																																																1	Substitution - Missense(1)	kidney(1)											124	114	117					12																	3939160		2203	4300	6503	SO:0001583	missense	57097			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"Poly (ADP-ribose) polymerases"	1186	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 6"	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.43T>A	12.37:g.3939160A>T	ENSP00000228820:p.Leu15Ile		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	A	7.105	0.574914	0.13623	.	.	ENSG00000111224	ENST00000397096;ENST00000228820	T;T	0.30448	1.53;2.75	5.52	1.77	0.24775	.	0.529823	0.20011	N	0.101129	T	0.11580	0.0282	N	0.08118	0	0.40151	D	0.976942	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.13899	-1.0492	10	0.21014	T	0.42	.	2.4259	0.04459	0.4697:0.304:0.08:0.1463	.	15;8	Q9NR21-4;Q9NR21	.;PAR11_HUMAN	I	8;15	ENSP00000380284:L8I;ENSP00000228820:L15I	ENSP00000228820:L15I	L	-	1	2	PARP11	3809421	0.853000	0.29707	0.276000	0.24689	0.040000	0.13550	0.439000	0.21575	0.147000	0.19030	0.460000	0.39030	TTA		0.373	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			T	3939160	A	T	3939160	3	4	392	1	0	0	0	0	1	0	0	0	11458	98	4	5	1001	5	PARP11	12	3939160	Missense_Mutation	SNP	A	TCGA-BP-4977-01A-01D-1462-08		3939160	129912735	30	21677											
MON2	23041	broad.mit.edu	37	12	62887719	62887719	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr12:62887719T>A	ENST00000393632.2	+	3	591	c.200T>A	c.(199-201)gTt>gAt	p.V67D	MON2_ENST00000393629.2_Missense_Mutation_p.V67D|MON2_ENST00000280379.6_Missense_Mutation_p.V67D|MON2_ENST00000393630.3_Missense_Mutation_p.V67D|MON2_ENST00000546600.1_Missense_Mutation_p.V67D|MON2_ENST00000549378.1_Intron|MON2_ENST00000552115.1_Missense_Mutation_p.V67D|MON2_ENST00000552738.1_Missense_Mutation_p.V67D	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	67					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.V67D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGCTCAGAGGTTGTACAGCCT	0.338																																																1	Substitution - Missense(1)	kidney(1)											90	77	81					12																	62887719		2203	4300	6503	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.200T>A	12.37:g.62887719T>A	ENSP00000377252:p.Val67Asp		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	31	5.072183	0.93950	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.69561	-0.25;-0.41;-0.41;-0.25;-0.25;-0.41;1.24	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.76492	0.3995	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.71674	0.998;0.994;0.997;0.998	P;D;D;D	0.66847	0.854;0.947;0.921;0.931	T	0.75608	-0.3259	9	.	.	.	-16.9571	15.8953	0.79329	0.0:0.0:0.0:1.0	.	67;67;67;67	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	D	67	ENSP00000377252:V67D;ENSP00000377250:V67D;ENSP00000280379:V67D;ENSP00000447407:V67D;ENSP00000449215:V67D;ENSP00000377249:V67D;ENSP00000446635:V67D	.	V	+	2	0	MON2	61173986	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.163000	0.67991	0.482000	0.46254	GTT		0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		A	62887719	T	A	62887719	3	1	392	1	0	0	0	0	1	0	0	0	9702	1725	60	5	210	5	MON2	12	62887719	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08	58948559	62887719	70964176	31	21678											
C12orf74	338809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	93100735	93100735	+	Missense_Mutation	SNP	T	T	G	rs183080897	byFrequency	TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr12:93100735T>G	ENST00000397833.3	+	2	779	c.328T>G	c.(328-330)Tct>Gct	p.S110A	C12orf74_ENST00000544406.2_Missense_Mutation_p.S110A	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	110								p.S110A(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AAGATTGACCTCTGAACCTGA	0.542																																																1	Substitution - Missense(1)	kidney(1)											67	72	70					12																	93100735		1948	4152	6100	SO:0001583	missense	338809			BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.328T>G	12.37:g.93100735T>G	ENSP00000380933:p.Ser110Ala		F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	T	2.935	-0.220250	0.06061	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.68	-1.43	0.08884	.	.	.	.	.	T	0.17238	0.0414	N	0.14661	0.345	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.21151	0.033;0.033	T	0.22800	-1.0206	8	0.48119	T	0.1	.	1.6343	0.02739	0.1806:0.4174:0.1831:0.219	.	110;110	F5H4P0;Q32Q52	.;CL074_HUMAN	A	110	.	ENSP00000380933:S110A	S	+	1	0	C12orf74	91624866	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.121000	0.15667	-0.107000	0.12088	-0.609000	0.04063	TCT		0.542	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		G	93100735	T	G	93100735	3	3	392	1	0	0	0	0	1	0	0	0	1716	1551	54	5	330	5	C12orf74	12	93100735	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08	30213016	93100735	40751160	32	21679											
C13orf31	144811	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	44458052	44458052	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr13:44458052C>A	ENST00000441843.1	+	4	1372	c.887C>A	c.(886-888)gCa>gAa	p.A296E	LACC1_ENST00000325686.6_Missense_Mutation_p.A296E	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	296								p.A296E(1)									GTCAAAAAAGCATGTGGGGTT	0.368																																																1	Substitution - Missense(1)	kidney(1)											102	99	100					13																	44458052		2203	4300	6503	SO:0001583	missense	0			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.887C>A	13.37:g.44458052C>A	ENSP00000391747:p.Ala296Glu		A2A3Z6|Q8N8X5	Missense_Mutation	SNP	ENST00000441843.1	37	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478383	0.84747	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	T;T	0.46063	0.88;0.88	5.8	5.8	0.92144	.	0.051854	0.85682	D	0.000000	T	0.64713	0.2623	M	0.71920	2.185	0.58432	D	0.999991	D	0.76494	0.999	D	0.73380	0.98	T	0.59825	-0.7381	10	0.34782	T	0.22	-17.1621	19.0512	0.93046	0.0:1.0:0.0:0.0	.	296	Q8IV20	LACC1_HUMAN	E	296	ENSP00000391747:A296E;ENSP00000317619:A296E	ENSP00000317619:A296E	A	+	2	0	LACC1	43356052	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	1.419000	0.34793	2.735000	0.93741	0.655000	0.94253	GCA		0.368	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		A	44458052	C	A	44458052	3	1	392	1	0	0	0	0	1	0	0	0	1728	710	25	4	897	4	C13orf31	13	44458052	Missense_Mutation	SNP	C	TCGA-BP-4977-01A-01D-1462-08		44458052	70711826	33	21680											
ATP7B	540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	52511675	52511675	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr13:52511675C>T	ENST00000242839.4	-	18	3996	c.3840G>A	c.(3838-3840)atG>atA	p.M1280I	ATP7B_ENST00000344297.5_Missense_Mutation_p.M1073I|ATP7B_ENST00000400370.3_Missense_Mutation_p.M850I|ATP7B_ENST00000400366.3_Missense_Mutation_p.M1169I|ATP7B_ENST00000418097.2_Missense_Mutation_p.M1215I|ATP7B_ENST00000448424.2_Missense_Mutation_p.M1202I|ATP7B_ENST00000417240.2_Missense_Mutation_p.M491I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1280					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.M1280I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGGCCACACCCATGTCTGCCT	0.627									Wilson disease																																							1	Substitution - Missense(1)	kidney(1)	GRCh37	CI051343	ATP7B	I							65	74	71					13																	52511675		2097	4210	6307	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3840G>A	13.37:g.52511675C>T	ENSP00000242839:p.Met1280Ile		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518417	0.27211	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.99226	-5.59;-5.59;-5.59;-5.59;-5.59;-5.59;-5.59	4.73	0.652	0.17823	HAD-like domain (2);	0.196730	0.43110	D	0.000619	D	0.90573	0.7045	N	0.00142	-2.005	0.80722	D	1	B;B;B;B;B;B;B;B	0.14012	0.0;0.0;0.0;0.0;0.0;0.009;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.0;0.0;0.0;0.0;0.002;0.0;0.0	T	0.83074	-0.0141	10	0.56958	D	0.05	-15.8188	2.7558	0.05292	0.3887:0.2966:0.2291:0.0855	.	1202;1232;1215;491;850;1169;1073;1280	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	I	1280;1169;1073;491;1202;850;1215	ENSP00000242839:M1280I;ENSP00000383217:M1169I;ENSP00000342559:M1073I;ENSP00000390360:M491I;ENSP00000416738:M1202I;ENSP00000383221:M850I;ENSP00000393343:M1215I	ENSP00000242839:M1280I	M	-	3	0	ATP7B	51409676	0.975000	0.34042	0.994000	0.49952	0.430000	0.31655	0.218000	0.17622	0.269000	0.21961	0.591000	0.81541	ATG		0.627	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		T	52511675	C	T	52511675	3	4	392	1	0	0	0	0	1	0	0	0	1191	594	21	2	573	2	ATP7B	13	52511675	Missense_Mutation	SNP	C	TCGA-BP-4977-01A-01D-1462-08	8053623	52511675	62658203	34	21681											
ZFYVE26	23503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68270971	68270971	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr14:68270971G>T	ENST00000347230.4	-	9	1420	c.1282C>A	c.(1282-1284)Cca>Aca	p.P428T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P428T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	428					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.P428T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTCTCTTTGGTATGGGGTTG	0.458																																																1	Substitution - Missense(1)	kidney(1)											121	99	106					14																	68270971		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1282C>A	14.37:g.68270971G>T	ENSP00000251119:p.Pro428Thr		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865336	0.32977	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.28895	1.74;1.59	5.79	4.89	0.63831	.	0.170976	0.52532	D	0.000067	T	0.49508	0.1561	L	0.52364	1.645	0.44880	D	0.997892	D;D;B	0.69078	0.997;0.997;0.18	D;D;B	0.65443	0.935;0.913;0.03	T	0.52675	-0.8544	10	0.72032	D	0.01	-6.8101	16.7919	0.85591	0.0:0.129:0.871:0.0	.	428;428;428	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	T	428;407;428	ENSP00000251119:P428T;ENSP00000450603:P428T	ENSP00000251119:P428T	P	-	1	0	ZFYVE26	67340724	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.293000	0.51779	1.438000	0.47492	0.561000	0.74099	CCA		0.458	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		T	68270971	G	T	68270971	3	4	392	1	0	0	0	0	1	0	0	0	17673	1261	44	4	6473	4	ZFYVE26	14	68270971	Missense_Mutation	SNP	G	TCGA-BP-4977-01A-01D-1462-08		68270971	39078569	35	21682											
THBS1	7057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	39877708	39877708	+	Missense_Mutation	SNP	T	T	C	rs367660638		TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr15:39877708T>C	ENST00000260356.5	+	7	1229	c.1064T>C	c.(1063-1065)aTc>aCc	p.I355T		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	355	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.I355T(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCCTGCCCCATCATGCCCTGC	0.498																																																1	Substitution - Missense(1)	kidney(1)						T	THR/ILE	0,4400		0,0,2200	255	168	198		1064	5.9	1	15		198	2,8592	2.2+/-6.3	0,2,4295	no	missense	THBS1	NM_003246.2	89	0,2,6495	CC,CT,TT		0.0233,0.0,0.0154	benign	355/1171	39877708	2,12992	2200	4297	6497	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1064T>C	15.37:g.39877708T>C	ENSP00000260356:p.Ile355Thr		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.600336	0.46423	0.0	2.33E-4	ENSG00000137801	ENST00000260356	T	0.70986	-0.53	5.86	5.86	0.93980	von Willebrand factor, type C (4);	0.000000	0.34002	N	0.004355	T	0.52484	0.1737	N	0.04787	-0.16	0.38880	D	0.956883	B	0.23185	0.081	B	0.27887	0.084	T	0.53344	-0.8452	10	0.27785	T	0.31	-14.8671	15.4256	0.75048	0.0:0.0:0.0:1.0	.	355	P07996	TSP1_HUMAN	T	355	ENSP00000260356:I355T	ENSP00000260356:I355T	I	+	2	0	THBS1	37665000	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	5.159000	0.64923	2.237000	0.73441	0.533000	0.62120	ATC		0.498	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		C	39877708	T	C	39877708	3	2	392	1	0	0	0	0	1	0	0	0	15858	1435	50	3	1086	3	THBS1	15	39877708	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08		39877708	62653684	36	21683											
ADCY9	115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4165079	4165079	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr16:4165079T>C	ENST00000294016.3	-	2	903	c.365A>G	c.(364-366)tAc>tGc	p.Y122C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	122					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.Y122C(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAAGCCGATGTAGAAGAGCGC	0.627																																																1	Substitution - Missense(1)	kidney(1)											62	69	67					16																	4165079		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.365A>G	16.37:g.4165079T>C	ENSP00000294016:p.Tyr122Cys		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.232572	0.58777	.	.	ENSG00000162104	ENST00000294016	T	0.76316	-1.01	5.44	4.32	0.51571	.	0.069256	0.64402	D	0.000014	D	0.85388	0.5685	M	0.73217	2.22	0.58432	D	0.999994	D	0.89917	1.0	D	0.67231	0.95	D	0.85797	0.1371	10	0.72032	D	0.01	.	11.711	0.51625	0.1326:0.0:0.0:0.8674	.	122	O60503	ADCY9_HUMAN	C	122	ENSP00000294016:Y122C	ENSP00000294016:Y122C	Y	-	2	0	ADCY9	4105080	1.000000	0.71417	0.790000	0.31976	0.954000	0.61252	6.134000	0.71689	0.880000	0.35969	0.454000	0.30748	TAC		0.627	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			C	4165079	T	C	4165079	3	2	392	1	0	0	0	0	1	0	0	0	301	1638	57	3	3736	3	ADCY9	16	4165079	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08		4165079	86189674	37	21684											
CDH1	999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68862136	68862136	+	Silent	SNP	C	C	T			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr16:68862136C>T	ENST00000261769.5	+	14	2415	c.2224C>T	c.(2224-2226)Ctg>Ttg	p.L742L	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Silent_p.L681L	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	742					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.L742L(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGAGCCCTTACTGCCCCCAGA	0.522			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	1	Substitution - coding silent(1)	kidney(1)											115	106	109					16																	68862136		2198	4300	6498	SO:0001819	synonymous_variant	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2224C>T	16.37:g.68862136C>T			A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	CCDS10869.1																																																																																				0.522	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		T	68862136	C	T	68862136	2	4	392	1	0	0	0	0	0	0	0	1	3097	564	20	2		2	CDH1	16	68862136	Silent	SNP	C	TCGA-BP-4977-01A-01D-1462-08	64697057	68862136	21492617	38	21685											
C16orf3	2622	hgsc.bcm.edu	37	16	90095596	90095597	+	Intron	DNP	AT	AT	GC	rs61118444|rs55742939|rs71137702	byFrequency	TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	A|T	A|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr16:90095596_90095597AT>GC	ENST00000268699.4	+	2	212				GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.I52A	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ggggcaggctatggggcagcct	0.663																																																0																																										SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	Exception_encountered	16.37:g.90095596_90095597delinsGC			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1																																																																																				0.663	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			GC	90095597	AT	GC	90095596	1	3	392	0	1	0	0	0	0	0	0	0	1814	449	16	3		3	C16orf3	16	90095596	Intron	DNP	AT	TCGA-BP-4977-01A-01D-1462-08	21233460	90095596	259157	39	21686											
OR3A1	4994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3195183	3195183	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr17:3195183G>A	ENST00000323404.1	-	1	693	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	232					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R232C(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TCTACAGAGCGAATTCGCAGG	0.493																																					GBM(20;287 516 18743 28660 36594)											2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											65	62	63					17																	3195183		2203	4300	6503	SO:0001583	missense	4994			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.694C>T	17.37:g.3195183G>A	ENSP00000313803:p.Arg232Cys		Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	G	6.027	0.373265	0.11409	.	.	ENSG00000180090	ENST00000323404	T	0.40225	1.04	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.127459	0.36374	N	0.002621	T	0.45155	0.1328	M	0.76938	2.355	0.09310	N	1	B	0.30439	0.279	B	0.29524	0.103	T	0.50074	-0.8870	10	0.66056	D	0.02	-11.7715	12.4902	0.55895	0.0:0.0:0.8329:0.1671	.	232	P47881	OR3A1_HUMAN	C	232	ENSP00000313803:R232C	ENSP00000313803:R232C	R	-	1	0	OR3A1	3141933	0.019000	0.18553	0.008000	0.14137	0.015000	0.08874	1.259000	0.32956	2.753000	0.94483	0.650000	0.86243	CGC		0.493	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			A	3195183	G	A	3195183	3	1	392	1	0	0	0	0	1	0	0	0	11039	1058	37	1	257	1	OR3A1	17	3195183	Missense_Mutation	SNP	G	TCGA-BP-4977-01A-01D-1462-08		3195183	78000027	40	21687											
SSH2	85464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27999019	27999019	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr17:27999019T>G	ENST00000269033.3	-	8	813	c.662A>C	c.(661-663)aAt>aCt	p.N221T	SSH2_ENST00000540801.1_Missense_Mutation_p.N248T|SSH2_ENST00000324677.7_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	221					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N221T(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTCCATTCATTGACTGAGGA	0.468																																																1	Substitution - Missense(1)	kidney(1)											243	201	216					17																	27999019		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.662A>C	17.37:g.27999019T>G	ENSP00000269033:p.Asn221Thr		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.920932	0.73213	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.38887	1.11;1.11	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.75615	2.305	0.80722	D	1	B;P;B	0.35575	0.118;0.51;0.03	B;B;B	0.39152	0.16;0.292;0.077	T	0.56117	-0.8032	10	0.87932	D	0	-17.4523	15.8991	0.79359	0.0:0.0:0.0:1.0	.	248;221;221	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	T	221;248;221	ENSP00000269033:N221T;ENSP00000444743:N248T	ENSP00000269033:N221T	N	-	2	0	SSH2	25023145	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.023000	0.88764	2.151000	0.67156	0.421000	0.28195	AAT		0.468	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		G	27999019	T	G	27999019	3	3	392	1	0	0	0	0	1	0	0	0	15190	1493	52	5	3641	5	SSH2	17	27999019	Missense_Mutation	SNP	T	TCGA-BP-4977-01A-01D-1462-08	24803836	27999019	53196191	41	21688											
SDK2	54549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	71429905	71429905	+	Silent	SNP	C	C	T	rs142980422		TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr17:71429905C>T	ENST00000392650.3	-	10	1278	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	SDK2_ENST00000388726.3_Silent_p.S426S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	426	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S426S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGGCGCCCCCGAGGTCTCAC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17326	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											48	37	41					17																	71429905		2203	4300	6503	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1278G>A	17.37:g.71429905C>T			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.20	1.283614	0.23392	.	.	ENSG00000069188	ENST00000416616	.	.	.	4.8	0.197	0.15164	.	.	.	.	.	T	0.42200	0.1192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24693	-1.0153	4	.	.	.	.	1.916	0.03297	0.1267:0.4259:0.1243:0.3231	.	.	.	.	R	331	.	.	G	-	1	0	SDK2	68941500	0.001000	0.12720	0.999000	0.59377	0.931000	0.56810	-1.934000	0.01552	0.181000	0.19994	-0.379000	0.06801	GGG		0.567	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		T	71429905	C	T	71429905	2	4	392	1	0	0	0	0	0	0	0	1	13975	639	23	1		1	SDK2	17	71429905	Silent	SNP	C	TCGA-BP-4977-01A-01D-1462-08	43430886	71429905	9765305	42	21689											
TMX3	54495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	66367641	66367641	+	Splice_Site	SNP	C	C	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr18:66367641C>A	ENST00000299608.2	-	6	709		c.e6+1		TMX3_ENST00000443099.2_Intron|TMX3_ENST00000562706.1_Splice_Site	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3						cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.?(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TAATAACTTACCCAGATACTC	0.264																																																1	Unknown(1)	kidney(1)											85	90	89					18																	66367641		2202	4286	6488	SO:0001630	splice_region_variant	54495			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.392+1G>T	18.37:g.66367641C>A			B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Splice_Site	SNP	ENST00000299608.2	37	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174217	0.78452	.	.	ENSG00000166479	ENST00000299608;ENST00000544714	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0212	0.92916	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMX3	64518621	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.719000	0.84751	2.843000	0.97960	0.591000	0.81541	.		0.264	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022	Intron	A	66367641	C	A	66367641	5	1	392	1	0	0	0	0	0	0	1	0	16273	521	18	4	1015	4	TMX3	18	66367641	Splice_Site	SNP	C	TCGA-BP-4977-01A-01D-1462-08		66367641	11709607	43	21690											
FXYD5	53827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35651641	35651641	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chr19:35651641C>A	ENST00000342879.3	+	4	1007	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	FXYD5_ENST00000541435.2_Missense_Mutation_p.Q77K|FXYD5_ENST00000423817.3_Missense_Mutation_p.Q77K|FXYD5_ENST00000590686.1_Missense_Mutation_p.Q77K|FXYD5_ENST00000543307.1_Missense_Mutation_p.Q77K|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392219.2_Missense_Mutation_p.Q77K|FXYD5_ENST00000588699.1_Missense_Mutation_p.Q77K			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	77					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)	p.Q77K(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCAGACCCAGCAACTGGAAGG	0.532																																																2	Substitution - Missense(2)	kidney(2)											165	162	163					19																	35651641		2203	4300	6503	SO:0001583	missense	53827			AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"dysadherin"	606669	"FXYD domain-containing ion transport regulator 5"				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.229C>A	19.37:g.35651641C>A	ENSP00000344254:p.Gln77Lys		B7WNZ8|Q6UW44|Q9HC34|Q9P039	Missense_Mutation	SNP	ENST00000342879.3	37	CCDS12447.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.322610	0.01320	.	.	ENSG00000089327	ENST00000543307;ENST00000392219;ENST00000541435;ENST00000342879;ENST00000423817	T;T;T;T;T	0.69561	-0.41;0.63;0.63;0.63;0.63	3.33	2.27	0.28462	.	2.151060	0.01915	N	0.040093	T	0.56775	0.2008	L	0.29908	0.895	0.09310	N	0.999991	B;B	0.18461	0.028;0.003	B;B	0.12837	0.008;0.004	T	0.41822	-0.9487	10	0.37606	T	0.19	2.3377	7.9036	0.29748	0.2454:0.7546:0.0:0.0	.	77;77	F5H4X8;Q96DB9	.;FXYD5_HUMAN	K	77	ENSP00000444839:Q77K;ENSP00000376053:Q77K;ENSP00000443390:Q77K;ENSP00000344254:Q77K;ENSP00000393848:Q77K	ENSP00000344254:Q77K	Q	+	1	0	FXYD5	40343481	0.006000	0.16342	0.013000	0.15412	0.012000	0.07955	0.699000	0.25586	0.961000	0.38030	0.561000	0.74099	CAA		0.532	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		A	35651641	C	A	35651641	3	1	392	1	0	0	0	0	1	0	0	0	6123	711	25	4	243	4	FXYD5	19	35651641	Missense_Mutation	SNP	C	TCGA-BP-4977-01A-01D-1462-08		35651641	23477342	44	21691											
TEX11	56159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	69825332	69825332	+	Silent	SNP	C	C	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chrX:69825332C>A	ENST00000395889.2	-	25	2186	c.2031G>T	c.(2029-2031)ctG>ctT	p.L677L	TEX11_ENST00000374333.2_Silent_p.L662L|TEX11_ENST00000344304.3_Silent_p.L677L|TEX11_ENST00000374320.2_Silent_p.L352L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	677					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.L662L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCGTGCAATCAGAATTACTT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											117	96	103					X																	69825332		2203	4300	6503	SO:0001819	synonymous_variant	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2031G>T	X.37:g.69825332C>A			A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	37	CCDS35323.1																																																																																				0.388	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			A	69825332	C	A	69825332	2	1	392	1	0	0	0	0	0	0	0	1	15779	813	29	4		4	TEX11	23	69825332	Silent	SNP	C	TCGA-BP-4977-01A-01D-1462-08		69825332	85445228	45	21692											
SLC7A3	84889	broad.mit.edu;hgsc.bcm.edu	37	X	70148386	70148386	+	Silent	SNP	G	G	A			TCGA-BP-4977-01A-01D-1462-08	TCGA-BP-4977-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c3bf7c1-07d9-4540-9a5e-614fd60b63ec	1a98cd70-7661-4e02-8d83-30b08d24ceac	g.chrX:70148386G>A	ENST00000374299.3	-	4	771	c.627C>T	c.(625-627)ttC>ttT	p.F209F	SLC7A3_ENST00000298085.4_Silent_p.F209F			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	209					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.F209F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCCCTTAACGAAGCCAGAGA	0.512																																																1	Substitution - coding silent(1)	kidney(1)											67	48	55					X																	70148386		2203	4300	6503	SO:0001819	synonymous_variant	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.627C>T	X.37:g.70148386G>A			D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	CCDS14404.1																																																																																				0.512	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		A	70148386	G	A	70148386	2	1	392	1	0	0	0	0	0	0	0	1	14704	1049	37	1		1	SLC7A3	23	70148386	Silent	SNP	G	TCGA-BP-4977-01A-01D-1462-08	323054	70148386	85122174	46	21693											
MKNK1	8569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	47028508	47028508	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr1:47028508G>C	ENST00000371946.4	-	11	939	c.776C>G	c.(775-777)tCt>tGt	p.S259C	MKNK1_ENST00000371944.4_Missense_Mutation_p.S123C|MKNK1_ENST00000371945.4_Missense_Mutation_p.S218C|MKNK1_ENST00000341183.5_Missense_Mutation_p.S218C|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000428112.2_Missense_Mutation_p.S218C	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S259C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GTATTCTGCAGAGCCACACTG	0.602																																																1	Substitution - Missense(1)	kidney(1)											37	33	34					1																	47028508		2203	4300	6503	SO:0001583	missense	8569			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.776C>G	1.37:g.47028508G>C	ENSP00000361014:p.Ser259Cys		D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	ENST00000371946.4	37	CCDS538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.316071|4.316071	0.81469|0.81469	.|.	.|.	ENSG00000079277|ENSG00000079277	ENST00000524749|ENST00000371946;ENST00000371945;ENST00000371944;ENST00000341183;ENST00000428112	.|T;T;T;T;T	.|0.69926	.|-0.44;-0.44;-0.44;-0.44;-0.44	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.055879	.|0.85682	.|D	.|0.000000	T|T	0.79598|0.79598	0.4473|0.4473	L|L	0.55834|0.55834	1.745|1.745	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.87578	.|0.998;0.997;0.998;0.997;0.996;0.997	T|T	0.80405|0.80405	-0.1396|-0.1396	5|10	.|0.87932	.|D	.|0	-28.4902|-28.4902	18.3905|18.3905	0.90481|0.90481	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|123;123;218;218;218;259	.|B4DQK5;Q7Z319;A8K341;Q9BUB5-3;Q9BUB5-2;Q9BUB5	.|.;.;.;.;.;MKNK1_HUMAN	V|C	11|259;218;123;218;218	.|ENSP00000361014:S259C;ENSP00000361013:S218C;ENSP00000361012:S123C;ENSP00000339573:S218C;ENSP00000411135:S218C	.|ENSP00000339573:S218C	L|S	-|-	1|2	2|0	MKNK1|MKNK1	46801095|46801095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.645000|0.645000	0.38454|0.38454	9.657000|9.657000	0.98554|0.98554	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	CTG|TCT		0.602	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		C	47028508	G	C	47028508	3	2	393	1	0	0	0	0	1	0	0	0	9606	942	33	4	637	4	MKNK1	1	47028508	Missense_Mutation	SNP	G	TCGA-BP-4981-01A-01D-1462-08		47028508	202222113	1	21694											
CYP4A11	1579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	47401233	47401233	+	Silent	SNP	C	C	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr1:47401233C>T	ENST00000310638.4	-	5	628	c.597G>A	c.(595-597)aaG>aaA	p.K199K	CYP4A11_ENST00000371905.1_Silent_p.K199K|CYP4A11_ENST00000371904.4_Silent_p.K199K|CYP4A11_ENST00000462347.1_Silent_p.K199K|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000457840.2_Silent_p.K95K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	199					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.K199K(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TGAAGGCACACTTCATGATGG	0.562																																																1	Substitution - coding silent(1)	kidney(1)											146	124	131					1																	47401233		2202	4299	6501	SO:0001819	synonymous_variant	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.597G>A	1.37:g.47401233C>T			Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	CCDS543.1																																																																																				0.562	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		T	47401233	C	T	47401233	2	4	393	1	0	0	0	0	0	0	0	1	4185	564	20	2		2	CYP4A11	1	47401233	Silent	SNP	C	TCGA-BP-4981-01A-01D-1462-08	372725	47401233	201849388	2	21695											
FLG	2312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152285874	152285874	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr1:152285874G>T	ENST00000368799.1	-	3	1523	c.1488C>A	c.(1486-1488)caC>caA	p.H496Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	496	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H496Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCTCGTGGTGCGATCCTT	0.607									Ichthyosis																																							1	Substitution - Missense(1)	kidney(1)											285	267	273					1																	152285874		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1488C>A	1.37:g.152285874G>T	ENSP00000357789:p.His496Gln		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	9.450	1.090341	0.20471	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01629	4.72	2.79	-0.123	0.13527	.	.	.	.	.	T	0.01029	0.0034	L	0.47190	1.495	0.09310	N	1	D	0.53151	0.958	P	0.55011	0.766	T	0.43605	-0.9381	9	0.12766	T	0.61	.	5.3133	0.15843	0.3995:0.0:0.6005:0.0	.	496	P20930	FILA_HUMAN	Q	496;28	ENSP00000357789:H496Q	ENSP00000357789:H496Q	H	-	3	2	FLG	150552498	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.522000	0.00950	-0.038000	0.13624	0.505000	0.49811	CAC		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152285874	G	T	152285874	3	4	393	1	0	0	0	0	1	0	0	0	5924	1252	44	4	10701	4	FLG	1	152285874	Missense_Mutation	SNP	G	TCGA-BP-4981-01A-01D-1462-08	104884641	152285874	96964747	3	21696											
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu	37	1	186017962	186017962	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr1:186017962A>C	ENST00000271588.4	+	42	6797	c.6568A>C	c.(6568-6570)Aac>Cac	p.N2190H	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2190H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2190	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.N2190H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTACAATGTCAACATTTGGGG	0.348																																																1	Substitution - Missense(1)	kidney(1)											86	88	87					1																	186017962		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6568A>C	1.37:g.186017962A>C	ENSP00000271588:p.Asn2190His		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457005	0.63401	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.041395	0.85682	D	0.000000	T	0.71592	0.3358	N	0.26042	0.785	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.70557	-0.4839	10	0.32370	T	0.25	.	15.4776	0.75497	1.0:0.0:0.0:0.0	.	2190	Q96RW7	HMCN1_HUMAN	H	2190	ENSP00000271588:N2190H;ENSP00000356462:N2190H	ENSP00000271588:N2190H	N	+	1	0	HMCN1	184284585	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.114000	0.77103	2.106000	0.64143	0.455000	0.32223	AAC		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		C	186017962	A	C	186017962	3	2	393	1	0	0	0	0	1	0	0	0	7222	130	5	5	6734	5	HMCN1	1	186017962	Missense_Mutation	SNP	A	TCGA-BP-4981-01A-01D-1462-08	33732088	186017962	63232659	4	21697											
KIF14	9928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200586908	200586908	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr1:200586908T>A	ENST00000367350.4	-	2	1382	c.944A>T	c.(943-945)cAa>cTa	p.Q315L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	315	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|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)|PDZ domain binding (GO:0030165)	p.Q315L(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTTTGGTCTTTGTTTAACTTG	0.403																																																1	Substitution - Missense(1)	kidney(1)											140	131	134					1																	200586908		2203	4300	6503	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.944A>T	1.37:g.200586908T>A	ENSP00000356319:p.Gln315Leu		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949036	0.53186	.	.	ENSG00000118193	ENST00000367350	T	0.73575	-0.76	5.12	-2.53	0.06326	.	0.611839	0.15458	N	0.261274	T	0.47783	0.1464	N	0.14661	0.345	0.09310	N	1	P	0.34462	0.454	B	0.24394	0.053	T	0.34204	-0.9838	10	0.28530	T	0.3	.	9.6537	0.39912	0.1124:0.0:0.4707:0.4169	.	315	Q15058	KIF14_HUMAN	L	315	ENSP00000356319:Q315L	ENSP00000356319:Q315L	Q	-	2	0	KIF14	198853531	0.001000	0.12720	0.005000	0.12908	0.497000	0.33675	0.226000	0.17776	-0.343000	0.08351	0.477000	0.44152	CAA		0.403	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		A	200586908	T	A	200586908	3	1	393	1	0	0	0	0	1	0	0	0	8278	1812	63	5	4118	5	KIF14	1	200586908	Missense_Mutation	SNP	T	TCGA-BP-4981-01A-01D-1462-08	14568946	200586908	48663713	5	21698											
ASXL2	55252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	25967152	25967152	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr2:25967152G>C	ENST00000435504.4	-	13	2347	c.2054C>G	c.(2053-2055)tCa>tGa	p.S685*	ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S657*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.S425*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.S425*			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	685					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.S425*(1)|p.S685*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCCAACTGAGGCGGCTGC	0.622																																																2	Substitution - Nonsense(2)	kidney(2)											52	55	54					2																	25967152		1873	4103	5976	SO:0001587	stop_gained	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2054C>G	2.37:g.25967152G>C	ENSP00000391447:p.Ser685*		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	G	46	12.587121	0.99680	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	.	.	.	5.94	5.94	0.96194	.	0.478549	0.17810	N	0.161223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-7.9616	18.9232	0.92534	0.0:0.0:1.0:0.0	.	.	.	.	X	685;657;425;425	.	ENSP00000272341:S425X	S	-	2	0	ASXL2	25820656	1.000000	0.71417	0.944000	0.38274	0.966000	0.64601	4.848000	0.62874	2.816000	0.96949	0.563000	0.77884	TCA		0.622	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		C	25967152	G	C	25967152	4	2	393	1	0	0	0	0	0	1	0	0	1067	1294	45	4	2257	4	ASXL2	2	25967152	Nonsense_Mutation	SNP	G	TCGA-BP-4981-01A-01D-1462-08		25967152	217232221	6	21699											
INO80B	83444	hgsc.bcm.edu	37	2	74684832	74684832	+	Silent	SNP	C	C	G			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr2:74684832C>G	ENST00000233331.7	+	5	1006	c.912C>G	c.(910-912)ggC>ggG	p.G304G	WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	304					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CCCCCTCAGGCCCGCCGCCGC	0.692																																																0													13	14	13					2																	74684832		2151	4237	6388	SO:0001819	synonymous_variant	83444			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.912C>G	2.37:g.74684832C>G				Silent	SNP	ENST00000233331.7	37	CCDS1942.2																																																																																				0.692	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		G	74684832	C	G	74684832	2	3	393	1	0	0	0	0	0	0	0	1	7749	726	26	4		4	INO80B	2	74684832	Silent	SNP	C	TCGA-BP-4981-01A-01D-1462-08	48717680	74684832	168514541	7	21700											
GCC2	9648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109103098	109103098	+	Silent	SNP	T	T	A			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr2:109103098T>A	ENST00000309863.6	+	16	4638	c.3924T>A	c.(3922-3924)gcT>gcA	p.A1308A		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1308					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.A1308A(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGTGCCGTGCTGCCAAGGTGC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											67	59	62					2																	109103098		2203	4300	6503	SO:0001819	synonymous_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3924T>A	2.37:g.109103098T>A			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	CCDS33268.1																																																																																				0.512	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		A	109103098	T	A	109103098	2	1	393	1	0	0	0	0	0	0	0	1	6288	1567	55	5		5	GCC2	2	109103098	Silent	SNP	T	TCGA-BP-4981-01A-01D-1462-08	34418266	109103098	134096275	8	21701											
GADL1	339896	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	30769765	30769765	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr3:30769765T>C	ENST00000282538.5	-	15	1685	c.1535A>G	c.(1534-1536)gAt>gGt	p.D512G	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	512					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.D328G(1)|p.D512G(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						GTCTATCTCATCCAGGAGGAA	0.537																																																2	Substitution - Missense(2)	kidney(2)											151	144	146					3																	30769765		2203	4300	6503	SO:0001583	missense	339896			AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1535A>G	3.37:g.30769765T>C	ENSP00000282538:p.Asp512Gly			Missense_Mutation	SNP	ENST00000282538.5	37	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357578	0.61293	.	.	ENSG00000144644	ENST00000282538	T	0.40756	1.02	5.91	5.91	0.95273	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.288857	0.32357	N	0.006205	T	0.43831	0.1265	L	0.54323	1.7	0.80722	D	1	B	0.24823	0.112	B	0.28638	0.092	T	0.31779	-0.9931	10	0.51188	T	0.08	-3.8191	16.3378	0.83071	0.0:0.0:0.0:1.0	.	512	Q6ZQY3	GADL1_HUMAN	G	512	ENSP00000282538:D512G	ENSP00000282538:D512G	D	-	2	0	GADL1	30744769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.694000	0.84235	2.255000	0.74692	0.533000	0.62120	GAT		0.537	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		C	30769765	T	C	30769765	3	2	393	1	0	0	0	0	1	0	0	0	6187	1435	50	3	34	3	GADL1	3	30769765	Missense_Mutation	SNP	T	TCGA-BP-4981-01A-01D-1462-08		30769765	167252665	9	21702											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52662911	52662911	+	Splice_Site	DEL	T	T	-			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr3:52662911delT	ENST00000296302.7	-	12	1443	c.1442delA	c.(1441-1443)cag>cg	p.Q481fs	PBRM1_ENST00000410007.1_Splice_Site_p.Q481fs|PBRM1_ENST00000409057.1_Splice_Site_p.Q481fs|PBRM1_ENST00000337303.4_Splice_Site_p.Q481fs|PBRM1_ENST00000356770.4_Splice_Site_p.Q449fs|PBRM1_ENST00000409767.1_Splice_Site_p.Q481fs|PBRM1_ENST00000394830.3_Splice_Site_p.Q481fs|PBRM1_ENST00000409114.3_Splice_Site_p.Q481fs			Q86U86	PB1_HUMAN	polybromo 1	481					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAATCACACCTGCATAACTTG	0.363			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													86	82	84					3																	52662911		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1443+1A>-	3.37:g.52662911delT			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Frame_Shift_Del	-	52662911	T	-	52662911	8	5	393	1	0	1	0	1	0	0	1	0	11493	1594	55	0	3534	0	PBRM1	3	52662911	Splice_Site	DEL	T	TCGA-BP-4981-01A-01D-1462-08	21893146	52662911	145359519	10	21703											
ZNF148	7707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	125032327	125032327	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr3:125032327G>T	ENST00000360647.4	-	4	643	c.158C>A	c.(157-159)cCt>cAt	p.P53H	ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.P53H|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.P53H|ZNF148_ENST00000485866.1_Missense_Mutation_p.P53H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	53					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P53H(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTCCTGGTGAGGCATACTTCG	0.453																																																1	Substitution - Missense(1)	kidney(1)											279	240	253					3																	125032327		2203	4300	6503	SO:0001583	missense	7707			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.158C>A	3.37:g.125032327G>T	ENSP00000353863:p.Pro53His		D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299713	0.40694	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574;ENST00000465763;ENST00000495019	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.0	5.0	0.66597	.	0.246709	0.40064	N	0.001200	T	0.08846	0.0219	N	0.14661	0.345	0.80722	D	1	P	0.44478	0.836	P	0.44518	0.452	T	0.21177	-1.0253	10	0.72032	D	0.01	-13.2603	18.5026	0.90887	0.0:0.0:1.0:0.0	.	53	Q9UQR1	ZN148_HUMAN	H	53	ENSP00000353863:P53H;ENSP00000420335:P53H;ENSP00000419322:P53H;ENSP00000420448:P53H	ENSP00000353863:P53H	P	-	2	0	ZNF148	126515017	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.873000	0.75541	2.582000	0.87167	0.650000	0.86243	CCT		0.453	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		T	125032327	G	T	125032327	3	4	393	1	0	0	0	0	1	0	0	0	17739	1000	35	4	2250	4	ZNF148	3	125032327	Missense_Mutation	SNP	G	TCGA-BP-4981-01A-01D-1462-08	72369416	125032327	72990103	11	21704											
MRPS22	56945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	139074556	139074556	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr3:139074556A>G	ENST00000495075.1	+	9	1343	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	MRPS22_ENST00000465056.1_Missense_Mutation_p.Y303C|MRPS22_ENST00000478464.1_Missense_Mutation_p.Y263C|MRPS22_ENST00000310776.4_Missense_Mutation_p.Y304C			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	304						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.Y304C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GTCCAGCTGTATCACGTGCTC	0.413																																																1	Substitution - Missense(1)	kidney(1)											78	76	77					3																	139074556		2203	4300	6503	SO:0001583	missense	56945			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"Mitochondrial ribosomal proteins / small subunits"	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.911A>G	3.37:g.139074556A>G	ENSP00000418008:p.Tyr304Cys		Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	CCDS3107.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.96|15.96	2.986808|2.986808	0.53934|0.53934	.|.	.|.	ENSG00000175110|ENSG00000184432	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000478464|ENST00000503326	D;D;D;D|.	0.83163|.	-1.69;-1.69;-1.69;-1.69|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.110083|0.110083	0.64402|0.64402	N|D	0.000006|0.000006	T|T	0.77994|0.77994	0.4214|0.4214	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79108|.	0.987;0.987;0.992|.	T|T	0.80137|0.80137	-0.1508|-0.1508	10|6	0.87932|.	D|.	0|.	-4.181|-4.181	15.7313|15.7313	0.77807|0.77807	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	263;303;304|.	G5E9W7;G5E9V5;P82650|.	.;.;RT22_HUMAN|.	C|H	304;304;303;263|107	ENSP00000418008:Y304C;ENSP00000310785:Y304C;ENSP00000418233:Y303C;ENSP00000419303:Y263C|.	ENSP00000310785:Y304C|.	Y|Y	+|-	2|1	0|0	MRPS22|COPB2	140557246|140557246	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.454000|0.454000	0.32378|0.32378	5.706000|5.706000	0.68362|0.68362	2.118000|2.118000	0.64928|0.64928	0.533000|0.533000	0.62120|0.62120	TAT|TAC		0.413	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		G	139074556	A	G	139074556	3	3	393	1	0	0	0	0	1	0	0	0	9835	449	16	3	937	3	MRPS22	3	139074556	Missense_Mutation	SNP	A	TCGA-BP-4981-01A-01D-1462-08	14042229	139074556	58947874	12	21705											
PLSCR5	389158	broad.mit.edu	37	3	146311927	146311927	+	Splice_Site	SNP	A	A	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr3:146311927A>C	ENST00000443512.1	-	4	1236	c.233T>G	c.(232-234)aTg>aGg	p.M78R	PLSCR5_ENST00000492200.1_Splice_Site_p.M78R|PLSCR5_ENST00000482567.1_Splice_Site_p.M66R	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	78								p.M78R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						ACCAAGTATCACTAATGGAAC	0.308																																																1	Substitution - Missense(1)	kidney(1)											83	79	80					3																	146311927		1799	4067	5866	SO:0001630	splice_region_variant	389158			AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.233-1T>G	3.37:g.146311927A>C			B2RXK5	Missense_Mutation	SNP	ENST00000443512.1	37	CCDS46931.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990038	0.35131	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.22945	1.93;1.93;1.93	5.45	5.45	0.79879	.	.	.	.	.	T	0.22205	0.0535	L	0.33485	1.01	0.36900	D	0.890336	B;B	0.27316	0.175;0.166	B;B	0.31337	0.077;0.128	T	0.17198	-1.0377	9	0.66056	D	0.02	.	10.3057	0.43678	0.9171:0.0:0.0829:0.0	.	66;78	B2RXK5;A0PG75	.;PLS5_HUMAN	R	78;66;78	ENSP00000417184:M78R;ENSP00000418626:M66R;ENSP00000390111:M78R	ENSP00000390111:M78R	M	-	2	0	PLSCR5	147794617	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.425000	0.66470	2.077000	0.62373	0.524000	0.50904	ATG		0.308	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670	Missense_Mutation	C	146311927	A	C	146311927	5	2	393	1	0	0	0	0	0	0	1	0	12115	173	6	5	598	5	PLSCR5	3	146311927	Splice_Site	SNP	A	TCGA-BP-4981-01A-01D-1462-08	7237371	146311927	51710503	13	21706											
KPNA4	3840	broad.mit.edu;ucsc.edu	37	3	160254590	160254590	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr3:160254590T>G	ENST00000334256.4	-	2	413	c.108A>C	c.(106-108)ttA>ttC	p.L36F		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	36	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.L36F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCACCTTCCTTAATTCAACTA	0.269																																																1	Substitution - Missense(1)	kidney(1)											144	150	148					3																	160254590		2199	4282	6481	SO:0001583	missense	3840			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"Importins", "Armadillo repeat containing"	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.108A>C	3.37:g.160254590T>G	ENSP00000334373:p.Leu36Phe		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022662	0.35701	.	.	ENSG00000186432	ENST00000334256	T	0.58210	0.35	6.07	3.65	0.41850	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.068471	0.64402	D	0.000019	T	0.72003	0.3407	M	0.90145	3.09	0.58432	D	0.999997	D	0.63046	0.992	D	0.70227	0.968	T	0.71307	-0.4632	10	0.87932	D	0	-2.1005	5.5826	0.17258	0.0:0.2016:0.1363:0.6621	.	36	O00629	IMA4_HUMAN	F	36	ENSP00000334373:L36F	ENSP00000334373:L36F	L	-	3	2	KPNA4	161737284	0.997000	0.39634	1.000000	0.80357	0.053000	0.15095	0.325000	0.19628	0.517000	0.28361	-0.323000	0.08544	TTA		0.269	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		G	160254590	T	G	160254590	3	3	393	1	0	0	0	0	1	0	0	0	8434	1751	61	5	1521	5	KPNA4	3	160254590	Missense_Mutation	SNP	T	TCGA-BP-4981-01A-01D-1462-08	13942663	160254590	37767840	14	21707											
FAM193A	8603	hgsc.bcm.edu	37	4	2664872	2664873	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr4:2664872_2664873insA	ENST00000324666.5	+	10	1414_1415	c.1063_1064insA	c.(1063-1065)gaafs	p.E355fs	FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.E355fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.E377fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.E355fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.E355fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	355										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAGTTCCTCAGAAGCTGATGAT	0.47																																																0																																										SO:0001589	frameshift_variant	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1065dupA	4.37:g.2664874_2664874dupA	ENSP00000324587:p.Glu355fs		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	CCDS58875.1																																																																																				0.47	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		A	2664873	-	A	2664872	7	5	393	1	0	1	1	0	0	0	0	0	5526	943	33	0	1093	0	FAM193A	4	2664872	Frame_Shift_Ins	INS	-	TCGA-BP-4981-01A-01D-1462-08		2664872	188489404	15	21708											
BOD1L	259282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	13602085	13602085	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr4:13602085T>C	ENST00000040738.5	-	10	6574	c.6439A>G	c.(6439-6441)Agc>Ggc	p.S2147G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2147						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S2147G(1)									TCCCCTATGCTTGTGGAAATC	0.502																																																1	Substitution - Missense(1)	kidney(1)											83	73	77					4																	13602085		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6439A>G	4.37:g.13602085T>C	ENSP00000040738:p.Ser2147Gly		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072314	0.76415	.	.	ENSG00000038219	ENST00000040738	T	0.16457	2.34	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.43411	0.1246	M	0.78456	2.415	0.40176	D	0.977236	D	0.76494	0.999	D	0.78314	0.991	T	0.47368	-0.9123	10	0.87932	D	0	-5.3309	14.1665	0.65480	0.0:0.0:0.0:1.0	.	2147	Q8NFC6	BOD1L_HUMAN	G	2147	ENSP00000040738:S2147G	ENSP00000040738:S2147G	S	-	1	0	BOD1L	13211183	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	4.896000	0.63222	2.083000	0.62718	0.454000	0.30748	AGC		0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		C	13602085	T	C	13602085	3	2	393	1	0	0	0	0	1	0	0	0	1483	1609	56	3	2784	3	BOD1L	4	13602085	Missense_Mutation	SNP	T	TCGA-BP-4981-01A-01D-1462-08	10937213	13602085	177552191	16	21709											
UTP3	57050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71555786	71555786	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr4:71555786A>C	ENST00000254803.2	+	1	1591	c.1392A>C	c.(1390-1392)gaA>gaC	p.E464D		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	464					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E464D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ATAGTGGTGAATTATCTGGCA	0.373																																																1	Substitution - Missense(1)	kidney(1)											138	143	141					4																	71555786		2203	4300	6503	SO:0001583	missense	57050			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1392A>C	4.37:g.71555786A>C	ENSP00000254803:p.Glu464Asp		Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584682	0.65992	.	.	ENSG00000132467	ENST00000254803	T	0.66995	-0.24	5.46	3.03	0.35002	Something about silencing protein 10 (Sas10), C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	H	0.96142	3.775	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86128	0.1573	10	0.72032	D	0.01	-17.3904	8.7849	0.34814	0.7462:0.0:0.2538:0.0	.	464	Q9NQZ2	SAS10_HUMAN	D	464	ENSP00000254803:E464D	ENSP00000254803:E464D	E	+	3	2	UTP3	71774650	0.985000	0.35326	0.995000	0.50966	0.986000	0.74619	1.715000	0.37971	1.004000	0.39156	0.533000	0.62120	GAA		0.373	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		C	71555786	A	C	71555786	3	2	393	1	0	0	0	0	1	0	0	0	17106	98	4	5	1394	5	UTP3	4	71555786	Missense_Mutation	SNP	A	TCGA-BP-4981-01A-01D-1462-08	57953701	71555786	119598490	17	21710											
HNRPDL	9987	broad.mit.edu	37	4	83350567	83350567	+	Missense_Mutation	SNP	T	T	C	rs368295854		TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr4:83350567T>C	ENST00000295470.5	-	1	452	c.277A>G	c.(277-279)Agc>Ggc	p.S93G	HNRNPDL_ENST00000502762.1_Missense_Mutation_p.S93G|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000514511.1_5'UTR|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000349655.4_5'UTR|ENOPH1_ENST00000509635.1_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	93					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)	p.S93G(1)									TGTATGGAGCTGGATTTAAAA	0.677																																																1	Substitution - Missense(1)	kidney(1)						T	GLY/SER,GLY/SER	0,4398		0,0,2199	28	35	33		277,277	-1.9	1	4		33	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	HNRPDL	NM_031372.3,NM_001207000.1	56,56	0,1,6496	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	93/421,93/364	83350567	1,12993	2199	4298	6497	SO:0001583	missense	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.277A>G	4.37:g.83350567T>C	ENSP00000295470:p.Ser93Gly		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	t	10.07	1.250232	0.22880	0.0	1.16E-4	ENSG00000152795	ENST00000295470;ENST00000502762	T;T	0.68903	-0.36;-0.36	5.44	-1.9	0.07665	.	0.870256	0.10045	N	0.722954	T	0.37046	0.0989	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16541	-1.0399	10	0.31617	T	0.26	.	1.8192	0.03107	0.157:0.3314:0.1162:0.3953	.	93	O14979	HNRDL_HUMAN	G	93	ENSP00000295470:S93G;ENSP00000422040:S93G	ENSP00000295470:S93G	S	-	1	0	HNRPDL	83569591	0.713000	0.27926	0.968000	0.41197	0.593000	0.36681	-0.186000	0.09670	-0.190000	0.10465	-1.055000	0.02315	AGC		0.677	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		C	83350567	T	C	83350567	3	2	393	1	0	0	0	0	1	0	0	0	7278	1580	55	3	1013	3	HNRPDL	4	83350567	Missense_Mutation	SNP	T	TCGA-BP-4981-01A-01D-1462-08	11794781	83350567	107803709	18	21711											
INTU	27152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	128605608	128605608	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr4:128605608A>T	ENST00000335251.6	+	7	1329	c.1226A>T	c.(1225-1227)cAa>cTa	p.Q409L		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	409					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)		p.Q409L(1)		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						AATGTCATCCAAACCTTAAAA	0.279																																																1	Substitution - Missense(1)	kidney(1)											100	98	99					4																	128605608		2202	4300	6502	SO:0001583	missense	27152			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.1226A>T	4.37:g.128605608A>T	ENSP00000334003:p.Gln409Leu		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	a	9.371	1.070387	0.20147	.	.	ENSG00000164066	ENST00000335251	T	0.29917	1.55	4.48	0.724	0.18236	.	0.358277	0.27393	N	0.019580	T	0.22322	0.0538	L	0.40543	1.245	0.58432	D	0.999999	B	0.27679	0.185	B	0.23852	0.049	T	0.05599	-1.0875	10	0.72032	D	0.01	0.0188	8.9797	0.35957	0.5106:0.0:0.4894:0.0	.	409	Q9ULD6	PDZD6_HUMAN	L	409	ENSP00000334003:Q409L	ENSP00000334003:Q409L	Q	+	2	0	INTU	128825058	0.998000	0.40836	0.824000	0.32777	0.242000	0.25591	1.016000	0.29976	-0.016000	0.14127	-0.332000	0.08345	CAA		0.279	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		T	128605608	A	T	128605608	3	4	393	1	0	0	0	0	1	0	0	0	7788	130	5	5	1252	5	INTU	4	128605608	Missense_Mutation	SNP	A	TCGA-BP-4981-01A-01D-1462-08	45255041	128605608	62548668	19	21712											
PCDHA12	56137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140255597	140255597	+	Silent	SNP	T	T	G			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr5:140255597T>G	ENST00000398631.2	+	1	540	c.540T>G	c.(538-540)ctT>ctG	p.L180L	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	180	Cadherin 2. {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)	p.L180L(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTGAGCTTAAAATAAAAA	0.373																																					Pancreas(113;759 1672 13322 24104 50104)											1	Substitution - coding silent(1)	kidney(1)											45	50	48					5																	140255597		1935	4168	6103	SO:0001819	synonymous_variant	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.540T>G	5.37:g.140255597T>G			O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																				0.373	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		G	140255597	T	G	140255597	2	3	393	1	0	0	0	0	0	0	0	1	11524	1741	61	5		5	PCDHA12	5	140255597	Silent	SNP	T	TCGA-BP-4981-01A-01D-1462-08		140255597	40659663	20	21713											
C5orf25	375484	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	175772242	175772242	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr5:175772242C>T	ENST00000443967.1	+	12	2820	c.2413C>T	c.(2413-2415)Ccc>Tcc	p.P805S	SIMC1_ENST00000341199.6_Missense_Mutation_p.P390S|SIMC1_ENST00000430704.2_Missense_Mutation_p.P390S|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'Flank|SIMC1_ENST00000332772.4_Missense_Mutation_p.P266S			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	805							SUMO polymer binding (GO:0032184)	p.P805S(1)									AAGGATTAAGCCCAAACCCCA	0.493																																																1	Substitution - Missense(1)	kidney(1)											109	106	107					5																	175772242		2203	4300	6503	SO:0001583	missense	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2413C>T	5.37:g.175772242C>T	ENSP00000406571:p.Pro805Ser		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37		.	.	.	.	.	.	.	.	.	.	C	22.9	4.350544	0.82132	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.32753	1.87;1.87;2.13;1.44	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000009	T	0.49729	0.1574	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.68353	0.935;0.943;0.957	T	0.42068	-0.9473	10	0.52906	T	0.07	-17.097	17.1367	0.86742	0.0:1.0:0.0:0.0	.	266;390;805	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	S	390;390;805;266	ENSP00000342075:P390S;ENSP00000409287:P390S;ENSP00000406571:P805S;ENSP00000331311:P266S	ENSP00000331311:P266S	P	+	1	0	C5orf25	175704848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.202000	0.42743	2.714000	0.92807	0.650000	0.86243	CCC		0.493	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		T	175772242	C	T	175772242	3	4	393	1	0	0	0	0	1	0	0	0	2290	739	26	2	1202	2	C5orf25	5	175772242	Missense_Mutation	SNP	C	TCGA-BP-4981-01A-01D-1462-08	35516645	175772242	5143018	21	21714											
MICA	100507436	broad.mit.edu;ucsc.edu	37	6	31379000	31379000	+	Missense_Mutation	SNP	G	G	T	rs576467210		TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr6:31379000G>T	ENST00000449934.2	+	3	531	c.477G>T	c.(475-477)caG>caT	p.Q159H	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A									p.Q159H(1)		breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CCAGAGCTCAGACCTTGGCCA	0.537																																																1	Substitution - Missense(1)	kidney(1)											103	89	93					6																	31379000		692	1591	2283	SO:0001583	missense	100507436			L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.477G>T	6.37:g.31379000G>T	ENSP00000413079:p.Gln159His			Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	N	4.185	0.032875	0.08101	.	.	ENSG00000204520	ENST00000364810;ENST00000399172;ENST00000449934	T	0.00724	5.78	1.41	0.518	0.17030	.	0.963342	0.08453	N	0.943601	T	0.00724	0.0024	M	0.90977	3.165	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.35301	-0.9794	10	0.87932	D	0	.	7.5396	0.27731	0.0:0.2701:0.7299:0.0	.	159	Q96QC4	.	H	159;116;159	ENSP00000413079:Q159H	ENSP00000365394:Q159H	Q	+	3	2	MICA	31486979	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.241000	0.18065	0.197000	0.20387	-0.702000	0.03669	CAG		0.537	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		T	31379000	G	T	31379000	3	4	393	1	0	0	0	0	1	0	0	0	9570	933	33	4	487	4	MICA	6	31379000	Missense_Mutation	SNP	G	TCGA-BP-4981-01A-01D-1462-08		31379000	139736067	22	21715											
TINAG	27283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	54212217	54212217	+	Silent	SNP	T	T	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr6:54212217T>C	ENST00000259782.4	+	6	897	c.801T>C	c.(799-801)aaT>aaC	p.N267N		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	267					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.N267N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ACACGGCCAATCTATCCCCTC	0.433																																																1	Substitution - coding silent(1)	kidney(1)											111	103	106					6																	54212217		2203	4300	6503	SO:0001819	synonymous_variant	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.801T>C	6.37:g.54212217T>C			Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	CCDS4955.1																																																																																				0.433	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		C	54212217	T	C	54212217	2	2	393	1	0	0	0	0	0	0	0	1	15926	1432	50	3		3	TINAG	6	54212217	Silent	SNP	T	TCGA-BP-4981-01A-01D-1462-08	22833217	54212217	116902850	23	21716											
TNS3	64759	broad.mit.edu;ucsc.edu	37	7	47384579	47384579	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr7:47384579T>C	ENST00000398879.1	-	19	2875	c.2509A>G	c.(2509-2511)Agc>Ggc	p.S837G	TNS3_ENST00000311160.9_Missense_Mutation_p.S837G|TNS3_ENST00000355730.3_Missense_Mutation_p.S597G			Q68CZ2	TENS3_HUMAN	tensin 3	837					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.S837G(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GACTCCTTGCTACTTAAAATT	0.483																																																1	Substitution - Missense(1)	kidney(1)											103	99	101					7																	47384579		1997	4174	6171	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2509A>G	7.37:g.47384579T>C	ENSP00000381854:p.Ser837Gly		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.784339	0.00628	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93488	-2.8;-2.8;-3.23;-2.86	5.68	-3.91	0.04168	.	1.386370	0.04102	N	0.313117	D	0.86318	0.5904	N	0.19112	0.55	0.27364	N	0.955899	B	0.02656	0.0	B	0.01281	0.0	T	0.74067	-0.3784	10	0.08837	T	0.75	-2.3439	14.0763	0.64891	0.0:0.7645:0.0:0.2355	.	837	Q68CZ2	TENS3_HUMAN	G	837;947;837;597;293;940	ENSP00000312143:S837G;ENSP00000381854:S837G;ENSP00000347968:S597G;ENSP00000414358:S940G	ENSP00000312143:S837G	S	-	1	0	TNS3	47351104	0.000000	0.05858	0.003000	0.11579	0.147000	0.21601	0.204000	0.17335	-0.803000	0.04415	-1.098000	0.02139	AGC		0.483	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		C	47384579	T	C	47384579	3	2	393	1	0	0	0	0	1	0	0	0	16349	1522	53	3	1880	3	TNS3	7	47384579	Missense_Mutation	SNP	T	TCGA-BP-4981-01A-01D-1462-08		47384579	111754084	24	21717											
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48313955	48313955	+	Silent	SNP	C	C	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr7:48313955C>T	ENST00000435803.1	+	17	4716	c.4692C>T	c.(4690-4692)aaC>aaT	p.N1564N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1564					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.N1564N(1)|p.N1509N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTACTTTAACATCCTGGAAA	0.313																																																2	Substitution - coding silent(2)	kidney(2)											63	65	64					7																	48313955		1801	4063	5864	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4692C>T	7.37:g.48313955C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48313955	C	T	48313955	2	4	393	1	0	0	0	0	0	0	0	1	31	477	17	2		2	ABCA13	7	48313955	Silent	SNP	C	TCGA-BP-4981-01A-01D-1462-08	929376	48313955	110824708	25	21718											
ASPH	444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	62588827	62588827	+	Intron	SNP	A	A	G			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr8:62588827A>G	ENST00000379454.4	-	3	510				ASPH_ENST00000379449.6_Missense_Mutation_p.L140P|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000517661.1_Missense_Mutation_p.L111P|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000541428.1_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						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)	p.L140P(1)		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)	TAAAATATTAAGGACTTCCTC	0.348																																																1	Substitution - Missense(1)	kidney(1)											52	46	48					8																	62588827		1568	3581	5149	SO:0001627	intron_variant	444			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.322+4699T>C	8.37:g.62588827A>G			A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336881	0.60963	.	.	ENSG00000198363	ENST00000379449;ENST00000517661	T;T	0.80123	-1.34;-1.34	5.95	5.95	0.96441	.	.	.	.	.	T	0.77618	0.4157	N	0.05280	-0.08	0.80722	D	1	D	0.61697	0.99	D	0.64877	0.93	T	0.78365	-0.2232	9	0.25106	T	0.35	.	16.1057	0.81220	1.0:0.0:0.0:0.0	.	140	Q6NXR7	.	P	140;111	ENSP00000368762:L140P;ENSP00000428060:L111P	ENSP00000368762:L140P	L	-	2	0	ASPH	62751381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.281000	0.76405	0.528000	0.53228	CTT		0.348	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		G	62588827	A	G	62588827	1	3	393	0	1	0	0	0	0	0	0	0	1053	72	3	3		3	ASPH	8	62588827	Intron	SNP	A	TCGA-BP-4981-01A-01D-1462-08		62588827	83775195	26	21719											
HRCT1	646962	hgsc.bcm.edu	37	9	35906601	35906601	+	Missense_Mutation	SNP	C	C	A	rs565823201|rs112212538		TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr9:35906601C>A	ENST00000354323.2	+	1	413	c.317C>A	c.(316-318)cCc>cAc	p.P106H	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	106	His-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccacccccaccgccac	0.677																																																0													6	6	6					9																	35906601		1795	3578	5373	SO:0001583	missense	646962				CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.317C>A	9.37:g.35906601C>A	ENSP00000346283:p.Pro106His		B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	CCDS35012.1	337	0.1543040293040293	82	0.16666666666666666	47	0.1298342541436464	45	0.07867132867132867	163	0.21503957783641162	C	1.568	-0.535019	0.04082	.	.	ENSG00000196196	ENST00000354323	.	.	.	0.571	-1.14	0.09741	.	2.262810	0.02394	N	0.080002	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	P	0.36944	0.574	B	0.32465	0.146	T	0.09751	-1.0660	7	0.87932	D	0	-19.8215	.	.	.	.	106	Q6UXD1	HRCT1_HUMAN	H	106	.	ENSP00000346283:P106H	P	+	2	0	HRCT1	35896601	0.000000	0.05858	0.011000	0.14972	0.341000	0.28922	-0.113000	0.10774	-1.188000	0.02705	-0.718000	0.03613	CCC		0.677	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		A	35906601	C	A	35906601	3	1	393	1	0	0	0	0	1	0	0	0	7355	623	22	4	319	4	HRCT1	9	35906601	Missense_Mutation	SNP	C	TCGA-BP-4981-01A-01D-1462-08		35906601	105306830	27	21720											
UCK1	83549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	134405914	134405914	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr9:134405914T>G	ENST00000372215.4	-	2	320	c.227A>C	c.(226-228)aAg>aCg	p.K76T	UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372211.3_Missense_Mutation_p.K81T|UCK1_ENST00000372208.3_Missense_Mutation_p.K76T|UCK1_ENST00000372210.3_Missense_Mutation_p.K67T	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	76					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)	p.K76T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GGCCTTGGCCTTCTGCTCTGC	0.577																																					Melanoma(42;523 1129 28385 43975 48113)											1	Substitution - Missense(1)	kidney(1)											224	185	198					9																	134405914		2203	4300	6503	SO:0001583	missense	83549			AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.227A>C	9.37:g.134405914T>G	ENSP00000361289:p.Lys76Thr		Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Missense_Mutation	SNP	ENST00000372215.4	37	CCDS6944.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095464	0.56075	.	.	ENSG00000130717	ENST00000372215;ENST00000372208;ENST00000372211;ENST00000372210	.	.	.	4.2	4.2	0.49525	Phosphoribulokinase/uridine kinase (1);	0.052940	0.64402	D	0.000001	T	0.62011	0.2393	M	0.70595	2.14	0.80722	D	1	B;B;B	0.24721	0.097;0.11;0.097	B;B;B	0.30495	0.116;0.075;0.116	T	0.61302	-0.7090	9	0.33940	T	0.23	-36.7497	12.6214	0.56605	0.0:0.0:0.0:1.0	.	67;76;76	Q5JT10;Q9HA47-2;Q9HA47	.;.;UCK1_HUMAN	T	76;76;81;67	.	ENSP00000361282:K76T	K	-	2	0	UCK1	133395735	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.010000	0.70753	1.768000	0.52137	0.459000	0.35465	AAG		0.577	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432		G	134405914	T	G	134405914	3	3	393	1	0	0	0	0	1	0	0	0	16928	1609	56	5	630	5	UCK1	9	134405914	Missense_Mutation	SNP	T	TCGA-BP-4981-01A-01D-1462-08	98499313	134405914	6807517	28	21721											
C9orf96	169436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136260828	136260828	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr9:136260828A>C	ENST00000371957.3	+	9	911	c.804A>C	c.(802-804)gaA>gaC	p.E268D	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.E268D(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CGGATGTGGAAACCTTCAGGA	0.542																																																2	Substitution - Missense(2)	kidney(2)											89	93	91					9																	136260828		2203	4300	6503	SO:0001583	missense	169436																														ENST00000371957.3:c.804A>C	9.37:g.136260828A>C	ENSP00000361025:p.Glu268Asp		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	A	4.787	0.146388	0.09134	.	.	ENSG00000198870	ENST00000371957	T	0.67345	-0.26	4.86	-9.71	0.00518	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.524580	0.03689	N	0.246812	T	0.36331	0.0963	N	0.11284	0.12	0.09310	N	0.999993	B	0.09022	0.002	B	0.09377	0.004	T	0.23619	-1.0183	10	0.14252	T	0.57	-0.6546	3.7366	0.08512	0.102:0.4173:0.3138:0.167	.	268	Q8NE28	SGK71_HUMAN	D	268	ENSP00000361025:E268D	ENSP00000361025:E268D	E	+	3	2	C9orf96	135250649	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.260000	0.01177	-3.021000	0.00269	-0.464000	0.05259	GAA		0.542	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			C	136260828	A	C	136260828	3	2	393	1	0	0	0	0	1	0	0	0	2510	11	1	5	838	5	C9orf96	9	136260828	Missense_Mutation	SNP	A	TCGA-BP-4981-01A-01D-1462-08	1854914	136260828	4952603	29	21722											
ERCC6	2074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	50738880	50738880	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr10:50738880A>C	ENST00000355832.5	-	3	507	c.429T>G	c.(427-429)tgT>tgG	p.C143W	PGBD3_ENST00000603152.1_Missense_Mutation_p.C143W|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.C143W|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.C143W	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	143					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.C143W(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGGATGTCGTACATGACCTGA	0.338								Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	kidney(1)											139	129	133					10																	50738880		2202	4299	6501	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.429T>G	10.37:g.50738880A>C	ENSP00000348089:p.Cys143Trp		D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.023909	0.54683	.	.	ENSG00000225830;ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000462247;ENST00000515869;ENST00000447839	D;T;T;T	0.85088	-1.94;0.5;2.83;2.83	5.43	3.04	0.35103	.	.	.	.	.	D	0.89536	0.6743	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.67103	0.949;0.907	D	0.87601	0.2497	9	0.59425	D	0.04	-19.9252	8.9739	0.35924	0.7858:0.0:0.2142:0.0	.	143;143	E7EV46;Q03468	.;ERCC6_HUMAN	W	143	ENSP00000348089:C143W;ENSP00000422827:C143W;ENSP00000423550:C143W;ENSP00000387966:C143W	ENSP00000348089:C143W	C	-	3	2	ERCC6;RP11-123B3.6	50408886	1.000000	0.71417	0.977000	0.42913	0.868000	0.49771	1.260000	0.32968	0.349000	0.23975	0.455000	0.32223	TGT		0.338	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		C	50738880	A	C	50738880	3	2	393	1	0	0	0	0	1	0	0	0	5219	389	14	5	4128	5	ERCC6	10	50738880	Missense_Mutation	SNP	A	TCGA-BP-4981-01A-01D-1462-08		50738880	84795867	30	21723											
VCL	7414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75860838	75860838	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr10:75860838C>G	ENST00000211998.4	+	14	2099	c.2005C>G	c.(2005-2007)Cga>Gga	p.R669G	VCL_ENST00000478896.2_3'UTR|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.R669G	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	669	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.R669G(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GAAGACGGCCCGAGAACTCAC	0.458																																																1	Substitution - Missense(1)	kidney(1)											51	48	49					10																	75860838		2203	4300	6503	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2005C>G	10.37:g.75860838C>G	ENSP00000211998:p.Arg669Gly		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199427	0.79015	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.38722	1.12;1.12;1.12	5.44	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.994	D;D;D	0.79108	0.992;0.929;0.988	T	0.56505	-0.7968	10	0.62326	D	0.03	.	11.2684	0.49124	0.3882:0.6118:0.0:0.0	.	596;669;669	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	G	669;669;576;596;341	ENSP00000361841:R669G;ENSP00000211998:R669G;ENSP00000415489:R341G	ENSP00000211998:R669G	R	+	1	2	VCL	75530844	1.000000	0.71417	0.888000	0.34837	0.960000	0.62799	6.257000	0.72480	2.715000	0.92844	0.655000	0.94253	CGA		0.458	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		G	75860838	C	G	75860838	3	3	393	1	0	0	0	0	1	0	0	0	17144	644	23	4	2059	4	VCL	10	75860838	Missense_Mutation	SNP	C	TCGA-BP-4981-01A-01D-1462-08	25121958	75860838	59673909	31	21724											
SMPD1	322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6415569	6415569	+	IGR	SNP	A	A	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr11:6415569A>T	ENST00000609360.1	-	0	2642				SMPD1_ENST00000299397.3_Missense_Mutation_p.E499V|SMPD1_ENST00000356761.2_Missense_Mutation_p.E487V|SMPD1_ENST00000342245.4_Missense_Mutation_p.E543V|SMPD1_ENST00000527275.1_Missense_Mutation_p.E542V|APBB1_ENST00000526240.1_5'Flank	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E543V(1)|p.E499V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGGCTCGAGAAACCTATGGG	0.557																																					GBM(147;1810 2556 5672 39622)											2	Substitution - Missense(2)	kidney(2)											92	84	87					11																	6415569		2201	4296	6497	SO:0001628	intergenic_variant	6609			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6415569A>T			A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.39|16.39	3.108861|3.108861	0.56398|0.56398	.|.	.|.	ENSG00000166311|ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275|ENST00000526280	D;D;D;D|.	0.90844|.	-2.74;-2.74;-2.74;-2.74|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75982|.	0.3924|.	M|M	0.84219|0.84219	2.685|2.685	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P|.	0.54772|.	0.968;0.958;0.881|.	P;P;P|.	0.51487|.	0.656;0.671;0.471|.	T|.	0.78620|.	-0.2133|.	10|.	0.66056|.	D|.	0.02|.	-14.1781|-14.1781	12.4918|12.4918	0.55905|0.55905	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	542;499;541|.	E9PKS3;G3XAB5;P17405|.	.;.;ASM_HUMAN|.	V|X	499;487;543;542|229	ENSP00000299397:E499V;ENSP00000349203:E487V;ENSP00000340409:E543V;ENSP00000435350:E542V|.	ENSP00000299397:E499V|.	E|K	+|+	2|1	0|0	SMPD1|SMPD1	6372145|6372145	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.164000|0.164000	0.22412|0.22412	6.772000|6.772000	0.75001|0.75001	2.052000|2.052000	0.61016|0.61016	0.379000|0.379000	0.24179|0.24179	GAA|AAA		0.557	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		T	6415569	A	T	6415569	1	4	393	0	1	0	0	0	0	0	0	0	14810	246	9	5		5	SMPD1	11	6415569	IGR	SNP	A	TCGA-BP-4981-01A-01D-1462-08		6415569	128590947	32	21725											
MTCH2	23788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47652589	47652589	+	Splice_Site	SNP	A	A	G			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr11:47652589A>G	ENST00000302503.3	-	7	635	c.478T>C	c.(478-480)Tgt>Cgt	p.C160R	MTCH2_ENST00000542981.1_Splice_Site_p.C12R|MTCH2_ENST00000534074.1_5'Flank	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	160					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.C160R(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AATACTTACCAGTACTTGGAT	0.348																																																1	Substitution - Missense(1)	kidney(1)											82	80	81					11																	47652589		2201	4298	6499	SO:0001630	splice_region_variant	23788			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.479+1T>C	11.37:g.47652589A>G			B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.833514	0.50951	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428;ENST00000530558	T;T;T	0.77489	0.76;-1.1;0.76	5.28	5.28	0.74379	Mitochondrial carrier domain (2);	0.041854	0.85682	D	0.000000	T	0.38878	0.1057	N	0.00204	-1.855	0.58432	D	0.999996	B	0.14012	0.009	B	0.14023	0.01	T	0.46091	-0.9216	10	0.14252	T	0.57	.	8.4327	0.32769	0.7197:0.0:0.0:0.2803	.	160	Q9Y6C9	MTCH2_HUMAN	R	160;12;151;139	ENSP00000303222:C160R;ENSP00000439013:C12R;ENSP00000432043:C151R	ENSP00000303222:C160R	C	-	1	0	MTCH2	47609165	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.556000	0.60775	1.999000	0.58509	0.402000	0.26972	TGT		0.348	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342	Missense_Mutation	G	47652589	A	G	47652589	5	3	393	1	0	0	0	0	0	0	1	0	9916	202	7	3	461	3	MTCH2	11	47652589	Splice_Site	SNP	A	TCGA-BP-4981-01A-01D-1462-08	41237020	47652589	87353927	33	21726											
KDM5A	5927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	442728	442728	+	Silent	SNP	A	A	G			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr12:442728A>G	ENST00000399788.2	-	12	1940	c.1578T>C	c.(1576-1578)ttT>ttC	p.F526F	KDM5A_ENST00000382815.4_Silent_p.F526F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	526	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.F526F(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCTGGGATTCAAATAACTCGG	0.507			T	NUP98	AML																																		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	2	Substitution - coding silent(2)	kidney(2)											133	136	135					12																	442728		1985	4170	6155	SO:0001819	synonymous_variant	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1578T>C	12.37:g.442728A>G			A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	CCDS41736.1																																																																																				0.507	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		G	442728	A	G	442728	2	3	393	1	0	0	0	0	0	0	0	1	8135	127	5	3		3	KDM5A	12	442728	Silent	SNP	A	TCGA-BP-4981-01A-01D-1462-08		442728	133409167	34	21727											
PKP2	5318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32949147	32949147	+	Silent	SNP	G	G	A			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr12:32949147G>A	ENST00000070846.6	-	12	2409	c.2385C>T	c.(2383-2385)gcC>gcT	p.A795A	PKP2_ENST00000340811.4_Silent_p.A751A	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	795					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.A795A(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGTGTAACAGGCAGAGGCTG	0.443																																																1	Substitution - coding silent(1)	kidney(1)											144	123	130					12																	32949147		2203	4300	6503	SO:0001819	synonymous_variant	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2385C>T	12.37:g.32949147G>A			A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	37	CCDS8731.1																																																																																				0.443	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		A	32949147	G	A	32949147	2	1	393	1	0	0	0	0	0	0	0	1	11987	987	35	2		2	PKP2	12	32949147	Silent	SNP	G	TCGA-BP-4981-01A-01D-1462-08	32506419	32949147	100902748	35	21728											
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53682952	53682952	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr12:53682952T>C	ENST00000257934.4	+	21	4878	c.4787T>C	c.(4786-4788)cTc>cCc	p.L1596P	ESPL1_ENST00000552462.1_Missense_Mutation_p.L1596P	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1596					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.L1596P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTAGTGGGCTCTATGCCCAC	0.567																																					Colon(53;1069 1201 2587 5382)											1	Substitution - Missense(1)	kidney(1)											111	106	108					12																	53682952		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4787T>C	12.37:g.53682952T>C	ENSP00000257934:p.Leu1596Pro			Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395541	0.83011	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.25085	1.82;1.82	5.41	5.41	0.78517	.	0.059700	0.64402	D	0.000002	T	0.40040	0.1101	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.24476	-1.0159	10	0.72032	D	0.01	.	14.566	0.68176	0.0:0.0:0.0:1.0	.	1596	Q14674	ESPL1_HUMAN	P	1596;1271;1596	ENSP00000257934:L1596P;ENSP00000449831:L1596P	ENSP00000257934:L1596P	L	+	2	0	ESPL1	51969219	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.474000	0.73578	2.272000	0.75746	0.460000	0.39030	CTC		0.567	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		C	53682952	T	C	53682952	3	2	393	1	0	0	0	0	1	0	0	0	5255	1551	54	3	4865	3	ESPL1	12	53682952	Missense_Mutation	SNP	T	TCGA-BP-4981-01A-01D-1462-08	20733805	53682952	80168943	36	21729											
RDH16	8608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57346629	57346629	+	Missense_Mutation	SNP	C	C	T	rs368973096		TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr12:57346629C>T	ENST00000398138.3	-	3	1574	c.718G>A	c.(718-720)Gag>Aag	p.E240K	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	240					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)	p.E240K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						ACAAACTTCTCGCCATAGGCC	0.502																																					GBM(179;741 2921 43105 45298)											1	Substitution - Missense(1)	kidney(1)						C	LYS/GLU	0,4036		0,0,2018	101	104	103		718	-2.2	0.3	12		103	1,8313		0,1,4156	no	missense	RDH16	NM_003708.3	56	0,1,6174	TT,TC,CC		0.012,0.0,0.0081	benign	240/318	57346629	1,12349	2018	4157	6175	SO:0001583	missense	8608				CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29674	protein-coding gene	gene with protein product	"microsomal NAD+ dependent retinol dehydrogenase 4", "short chain dehydrogenase/reductase family 9C, member 8"		"retinol dehydrogenase 16 (all-trans and 13-cis)"			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.718G>A	12.37:g.57346629C>T	ENSP00000381206:p.Glu240Lys		Q9UNV2	Missense_Mutation	SNP	ENST00000398138.3	37	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871574	0.33069	0.0	1.2E-4	ENSG00000139547	ENST00000398138	D	0.92911	-3.13	5.17	-2.23	0.06930	NAD(P)-binding domain (1);	0.514499	0.18590	N	0.136761	D	0.85155	0.5632	L	0.50333	1.59	0.09310	N	1	P;B	0.44006	0.824;0.128	B;B	0.36989	0.238;0.033	T	0.77923	-0.2406	10	0.56958	D	0.05	.	7.1005	0.25333	0.0:0.2748:0.4631:0.2622	.	116;240	Q59FX7;O75452	.;RDH16_HUMAN	K	240	ENSP00000381206:E240K	ENSP00000353980:E116K	E	-	1	0	RDH16	55632896	0.000000	0.05858	0.313000	0.25210	0.002000	0.02628	-0.690000	0.05138	-0.225000	0.09913	-0.885000	0.02943	GAG		0.502	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		T	57346629	C	T	57346629	3	4	393	1	0	0	0	0	1	0	0	0	13200	893	31	1	243	1	RDH16	12	57346629	Missense_Mutation	SNP	C	TCGA-BP-4981-01A-01D-1462-08	3663677	57346629	76505266	37	21730											
P2RX2	22953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133198270	133198270	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr12:133198270G>T	ENST00000389110.3	+	11	1165	c.1128G>T	c.(1126-1128)aaG>aaT	p.K376N	P2RX2_ENST00000449132.2_Missense_Mutation_p.K342N|P2RX2_ENST00000350048.5_Missense_Mutation_p.K352N|P2RX2_ENST00000343948.4_Missense_Mutation_p.K402N|P2RX2_ENST00000352418.4_Missense_Mutation_p.K304N|P2RX2_ENST00000348800.5_Missense_Mutation_p.K376N|P2RX2_ENST00000351222.4_Missense_Mutation_p.K284N	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	376					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.K402N(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		ACAGCCATAAGAAATTTGACA	0.587																																																1	Substitution - Missense(1)	kidney(1)											69	70	70					12																	133198270		2203	4300	6503	SO:0001583	missense	22953			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.1128G>T	12.37:g.133198270G>T	ENSP00000373762:p.Lys376Asn		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	CCDS31931.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452766	0.63290	.	.	ENSG00000187848	ENST00000389110;ENST00000449132;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800	T;T;T;T;T;T;T	0.10573	3.49;3.49;2.86;3.49;3.49;3.49;3.49	4.67	3.7	0.42460	.	0.102365	0.64402	D	0.000005	T	0.28200	0.0696	M	0.79475	2.455	0.39070	D	0.960692	D;D;D;D;D;D;P	0.76494	0.971;0.999;0.999;0.995;0.984;0.98;0.95	P;D;D;P;P;P;P	0.65573	0.856;0.933;0.936;0.903;0.818;0.816;0.72	T	0.02698	-1.1122	10	0.56958	D	0.05	-18.4703	9.401	0.38433	0.093:0.1522:0.7547:0.0	.	342;284;304;352;402;376;376	Q9UBL9-7;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.;.;.;.;.;P2RX2_HUMAN;.	N	376;342;402;304;352;284;376	ENSP00000373762:K376N;ENSP00000405531:K342N;ENSP00000343339:K402N;ENSP00000341419:K304N;ENSP00000343904:K352N;ENSP00000344502:K284N;ENSP00000345095:K376N	ENSP00000343339:K402N	K	+	3	2	P2RX2	131708343	0.994000	0.37717	1.000000	0.80357	0.968000	0.65278	1.062000	0.30555	2.434000	0.82447	0.561000	0.74099	AAG		0.587	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			T	133198270	G	T	133198270	3	4	393	1	0	0	0	0	1	0	0	0	11342	933	33	4	1244	4	P2RX2	12	133198270	Missense_Mutation	SNP	G	TCGA-BP-4981-01A-01D-1462-08	75851641	133198270	653625	38	21731											
PCID2	55795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	113854792	113854792	+	Silent	SNP	A	A	G			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr13:113854792A>G	ENST00000337344.4	-	2	151	c.75T>C	c.(73-75)tgT>tgC	p.C25C	PCID2_ENST00000246505.5_Silent_p.C25C|PCID2_ENST00000375479.2_Silent_p.C25C|PCID2_ENST00000375477.1_Silent_p.C25C|PCID2_ENST00000375459.1_Silent_p.C23C|PCID2_ENST00000375457.2_Silent_p.C23C	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	25					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)			p.C25C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CCAACTCTGCACAAGATGCTC	0.423																																																1	Substitution - coding silent(1)	kidney(1)											126	126	126					13																	113854792		2203	4300	6503	SO:0001819	synonymous_variant	55795			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.75T>C	13.37:g.113854792A>G			A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	ENST00000337344.4	37	CCDS9532.2																																																																																				0.423	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		G	113854792	A	G	113854792	2	3	393	1	0	0	0	0	0	0	0	1	11581	157	6	3		3	PCID2	13	113854792	Silent	SNP	A	TCGA-BP-4981-01A-01D-1462-08		113854792	1315086	39	21732											
PRKCH	5583	broad.mit.edu	37	14	61789073	61789073	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr14:61789073C>T	ENST00000332981.5	+	1	639	c.254C>T	c.(253-255)gCc>gTc	p.A85V	RP11-902B17.1_ENST00000500036.2_RNA|PRKCH_ENST00000555082.1_5'Flank	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	85	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.A85V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTCGAGTTGGCCGTCTTCCAC	0.642																																					Melanoma(135;863 1779 8064 14443 26348)											2	Substitution - Missense(2)	kidney(2)											59	51	54					14																	61789073		2202	4299	6501	SO:0001583	missense	5583			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.254C>T	14.37:g.61789073C>T	ENSP00000329127:p.Ala85Val		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841361	0.91197	.	.	ENSG00000027075	ENST00000557294;ENST00000332981	T;T	0.69175	-0.38;-0.38	4.85	4.85	0.62838	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.108001	0.38436	N	0.001681	T	0.66096	0.2755	L	0.56396	1.775	0.80722	D	1	P	0.39809	0.689	P	0.45167	0.472	T	0.63265	-0.6676	10	0.05351	T	0.99	.	18.1711	0.89745	0.0:1.0:0.0:0.0	.	85	P24723	KPCL_HUMAN	V	85	ENSP00000452129:A85V;ENSP00000329127:A85V	ENSP00000329127:A85V	A	+	2	0	PRKCH	60858826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.518000	0.84900	0.655000	0.94253	GCC		0.642	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		T	61789073	C	T	61789073	3	4	393	1	0	0	0	0	1	0	0	0	12518	739	26	2	256	2	PRKCH	14	61789073	Missense_Mutation	SNP	C	TCGA-BP-4981-01A-01D-1462-08		61789073	45560467	40	21733											
HSP90AA1	3320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	102551690	102551690	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr14:102551690A>G	ENST00000216281.8	-	4	813	c.608T>C	c.(607-609)aTa>aCa	p.I203T	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.I24T|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.I325T	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	203					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.I325T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	AATCTCCTTTATTCTTCGTTC	0.363																																																1	Substitution - Missense(1)	kidney(1)											85	70	75					14																	102551690		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.608T>C	14.37:g.102551690A>G	ENSP00000216281:p.Ile203Thr		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	a	17.79	3.476183	0.63737	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	4.29	4.29	0.51040	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.123645	0.51477	U	0.000099	T	0.58750	0.2144	H	0.99825	4.815	0.58432	D	0.999999	B;P;P	0.39181	0.139;0.613;0.663	B;P;P	0.59595	0.144;0.745;0.86	T	0.74618	-0.3605	10	0.87932	D	0	-16.8308	13.7409	0.62847	1.0:0.0:0.0:0.0	.	24;325;203	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	T	203;325;24;134	ENSP00000216281:I203T;ENSP00000335153:I325T;ENSP00000396189:I24T;ENSP00000450712:I134T	ENSP00000216281:I203T	I	-	2	0	HSP90AA1	101621443	1.000000	0.71417	0.573000	0.28510	0.998000	0.95712	9.062000	0.93920	1.723000	0.51488	0.528000	0.53228	ATA		0.363	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		G	102551690	A	G	102551690	3	3	393	1	0	0	0	0	1	0	0	0	7403	449	16	3	1622	3	HSP90AA1	14	102551690	Missense_Mutation	SNP	A	TCGA-BP-4981-01A-01D-1462-08	40762617	102551690	4797850	41	21734											
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu	37	14	105410662	105410662	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr14:105410662C>T	ENST00000333244.5	-	7	11245	c.11126G>A	c.(11125-11127)gGc>gAc	p.G3709D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3709						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G3709D(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCACCTGGCCCTCCGGGAG	0.632																																																1	Substitution - Missense(1)	kidney(1)											102	111	108					14																	105410662		1869	4095	5964	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11126G>A	14.37:g.105410662C>T	ENSP00000353114:p.Gly3709Asp		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	15.19	2.758773	0.49468	.	.	ENSG00000185567	ENST00000333244	T	0.03272	3.99	4.0	-2.96	0.05547	.	.	.	.	.	T	0.05364	0.0142	M	0.86343	2.81	0.09310	N	1	B	0.17465	0.022	B	0.21360	0.034	T	0.47824	-0.9087	9	0.18276	T	0.48	.	1.4099	0.02289	0.4179:0.284:0.1105:0.1875	.	3709	Q8IVF2	AHNK2_HUMAN	D	3709	ENSP00000353114:G3709D	ENSP00000353114:G3709D	G	-	2	0	AHNAK2	104481707	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.171000	0.09883	-0.115000	0.11915	0.485000	0.47835	GGC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		T	105410662	C	T	105410662	3	4	393	1	0	0	0	0	1	0	0	0	415	739	26	2	6265	2	AHNAK2	14	105410662	Missense_Mutation	SNP	C	TCGA-BP-4981-01A-01D-1462-08	2858972	105410662	1938878	42	21735											
MSLN	10232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	816775	816775	+	Silent	SNP	C	C	G	rs201168564	byFrequency	TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr16:816775C>G	ENST00000382862.3	+	13	1457	c.1362C>G	c.(1360-1362)ccC>ccG	p.P454P	MSLN_ENST00000545450.2_Silent_p.P446P|MSLN_ENST00000566549.1_Silent_p.P446P|MSLN_ENST00000563941.1_Silent_p.P446P	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	454					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P454P(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCTCAGCCCCGAGGAGCTGA	0.647																																																2	Substitution - coding silent(2)	kidney(2)											65	66	66					16																	816775		2191	4289	6480	SO:0001819	synonymous_variant	10232			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1362C>G	16.37:g.816775C>G			D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	CCDS32356.1																																																																																				0.647	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			G	816775	C	G	816775	2	3	393	1	0	0	0	0	0	0	0	1	9883	639	23	4		4	MSLN	16	816775	Silent	SNP	C	TCGA-BP-4981-01A-01D-1462-08		816775	89537978	43	21736											
MYH11	4629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15872668	15872668	+	Silent	SNP	C	C	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr16:15872668C>T	ENST00000300036.5	-	7	868	c.759G>A	c.(757-759)acG>acA	p.T253T	MYH11_ENST00000452625.2_Silent_p.T260T|MYH11_ENST00000396324.3_Silent_p.T260T|MYH11_ENST00000576790.2_Silent_p.T253T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	253	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T260T(2)|p.T253T(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGATGTAACCCGTGACGTCGA	0.562			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	4	Substitution - coding silent(4)	lung(2)|kidney(2)											188	140	156					16																	15872668		2197	4300	6497	SO:0001819	synonymous_variant	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.759G>A	16.37:g.15872668C>T			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.562	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		T	15872668	C	T	15872668	2	4	393	1	0	0	0	0	0	0	0	1	10033	639	23	1		1	MYH11	16	15872668	Silent	SNP	C	TCGA-BP-4981-01A-01D-1462-08	15055893	15872668	74482085	44	21737											
NOMO3	408050	hgsc.bcm.edu	37	16	16374089	16374089	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr16:16374089delG	ENST00000399336.4	+	25	3101	c.2929delG	c.(2929-2931)gggfs	p.G977fs	NOMO3_ENST00000572932.1_3'UTR|NOMO3_ENST00000538468.1_Frame_Shift_Del_p.G810fs|NOMO3_ENST00000263012.6_Frame_Shift_Del_p.G977fs	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	977						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCCCGAACAAGGGGTTGCCAT	0.507																																																0													0	1	1					16																	16374089		0	1	1	SO:0001589	frameshift_variant	408050			AK125530	CCDS42123.1	16p13	2004-11-24				ENSG00000103226			25242	protein-coding gene	gene with protein product		609159				15257293	Standard	NM_001004067		Approved		uc002deq.3	P69849	OTTHUMG00000170525	ENST00000399336.4:c.2929delG	16.37:g.16374089delG	ENSP00000382274:p.Gly977fs			Frame_Shift_Del	DEL	ENST00000399336.4	37	CCDS42123.1																																																																																				0.507	NOMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409528.13	NM_001004067		-	16374089	G	-	16374089	7	5	393	1	0	1	0	1	0	0	0	0	10535	1000	35	0	3027	0	NOMO3	16	16374089	Frame_Shift_Del	DEL	G	TCGA-BP-4981-01A-01D-1462-08	501421	16374089	73980664	45	21738											
NOMO2	283820	hgsc.bcm.edu	37	16	18525759	18525759	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr16:18525759delC	ENST00000381474.3	-	25	2997	c.2932delG	c.(2932-2934)gttfs	p.V978fs	NOMO2_ENST00000330537.6_Frame_Shift_Del_p.V978fs|NOMO2_ENST00000543392.1_Frame_Shift_Del_p.V811fs	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	978						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TCCATGGCAACCCCTTGTTCG	0.507																																																0													1	1	1					16																	18525759		1	5	6	SO:0001589	frameshift_variant	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2932delG	16.37:g.18525759delC	ENSP00000370883:p.Val978fs		Q4G177	Frame_Shift_Del	DEL	ENST00000381474.3	37	CCDS32394.1																																																																																				0.507	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		-	18525759	C	-	18525759	7	5	393	1	0	1	0	1	0	0	0	0	10534	507	18	0	907	0	NOMO2	16	18525759	Frame_Shift_Del	DEL	C	TCGA-BP-4981-01A-01D-1462-08	2151670	18525759	71828994	46	21739											
METTL9	51108	broad.mit.edu;hgsc.bcm.edu	37	16	21611123	21611123	+	Silent	SNP	G	G	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr16:21611123G>C	ENST00000358154.3	+	1	327	c.69G>C	c.(67-69)acG>acC	p.T23T	METTL9_ENST00000396014.4_Silent_p.T23T	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	23								p.T23T(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		GGATGTGGACGCTGCGGAGCC	0.736																																																1	Substitution - coding silent(1)	kidney(1)											6	8	8					16																	21611123		1968	3965	5933	SO:0001819	synonymous_variant	51108			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.69G>C	16.37:g.21611123G>C			Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Silent	SNP	ENST00000358154.3	37	CCDS10598.2																																																																																				0.736	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		C	21611123	G	C	21611123	2	2	393	1	0	0	0	0	0	0	0	1	9510	1074	38	4		4	METTL9	16	21611123	Silent	SNP	G	TCGA-BP-4981-01A-01D-1462-08	3085364	21611123	68743630	47	21740											
CDH11	1009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	64984852	64984852	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr16:64984852G>A	ENST00000268603.4	-	12	2327	c.1712C>T	c.(1711-1713)cCc>cTc	p.P571L	CDH11_ENST00000566827.1_Missense_Mutation_p.P445L|CDH11_ENST00000394156.3_Missense_Mutation_p.P571L	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	571	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P571L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GATCACTATGGGCAGAAGGTA	0.617			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	1	Substitution - Missense(1)	kidney(1)											89	79	82					16																	64984852		2203	4300	6503	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1712C>T	16.37:g.64984852G>A	ENSP00000268603:p.Pro571Leu		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325077	0.95708	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.60171	2.18;0.21	5.55	5.55	0.83447	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.84349	0.0531	10	0.87932	D	0	.	18.497	0.90869	0.0:0.0:1.0:0.0	.	571;571	P55287-2;P55287	.;CAD11_HUMAN	L	571;571;554	ENSP00000268603:P571L;ENSP00000377711:P571L	ENSP00000268603:P571L	P	-	2	0	CDH11	63542353	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.751000	0.98889	2.594000	0.87642	0.655000	0.94253	CCC		0.617	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		A	64984852	G	A	64984852	3	1	393	1	0	0	0	0	1	0	0	0	3099	1232	43	2	686	2	CDH11	16	64984852	Missense_Mutation	SNP	G	TCGA-BP-4981-01A-01D-1462-08	43373729	64984852	25369901	48	21741											
TMEM49	81671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57915760	57915760	+	Splice_Site	SNP	T	T	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr17:57915760T>C	ENST00000262291.4	+	11	1387		c.e11+2		VMP1_ENST00000588617.1_Splice_Site|VMP1_ENST00000545362.1_Splice_Site|MIR21_ENST00000362134.1_RNA|VMP1_ENST00000537567.1_Splice_Site|VMP1_ENST00000536180.1_Splice_Site|VMP1_ENST00000539763.1_Splice_Site	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1						autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)		p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						ACACCACAGGTAAGACTTTAA	0.483																																																1	Unknown(1)	kidney(1)											74	67	69					17																	57915760		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1077+2T>C	17.37:g.57915760T>C			B4DVV9|Q9H0P4|Q9P089	Splice_Site	SNP	ENST00000262291.4	37	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377999	0.82682	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2539	0.82501	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	VMP1	55270542	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	7.841000	0.86834	2.244000	0.73946	0.528000	0.53228	.		0.483	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938	Intron	C	57915760	T	C	57915760	5	2	393	1	0	0	0	0	0	0	1	0	16178	1652	57	3	1117	3	TMEM49	17	57915760	Splice_Site	SNP	T	TCGA-BP-4981-01A-01D-1462-08		57915760	23279450	49	21742											
ANKRD12	23253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	9211598	9211598	+	Silent	SNP	T	T	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr18:9211598T>C	ENST00000262126.4	+	6	708	c.468T>C	c.(466-468)caT>caC	p.H156H	ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Silent_p.H133H|ANKRD12_ENST00000383440.2_Silent_p.H133H	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	156						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H156H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CACCAAATCATCCATCACAAA	0.333																																																1	Substitution - coding silent(1)	kidney(1)											63	65	64					18																	9211598		2203	4300	6503	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.468T>C	18.37:g.9211598T>C			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	CCDS11843.1																																																																																				0.333	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		C	9211598	T	C	9211598	2	2	393	1	0	0	0	0	0	0	0	1	640	1432	50	3		3	ANKRD12	18	9211598	Silent	SNP	T	TCGA-BP-4981-01A-01D-1462-08		9211598	68865650	50	21743											
THEG	51298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	375870	375870	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr19:375870C>T	ENST00000342640.4	-	1	143	c.101G>A	c.(100-102)aGc>aAc	p.S34N	THEG_ENST00000346878.2_Missense_Mutation_p.S34N	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	34					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.S34N(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACACAGAGCTCTGGAGGCC	0.667																																																1	Substitution - Missense(1)	kidney(1)											40	43	42					19																	375870		2203	4299	6502	SO:0001583	missense	51298			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.101G>A	19.37:g.375870C>T	ENSP00000340088:p.Ser34Asn		A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	2.988	-0.208838	0.06140	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.23348	2.05;1.91	3.16	0.883	0.19177	.	2.194380	0.02012	N	0.047081	T	0.17066	0.0410	N	0.19112	0.55	0.09310	N	1	B;B	0.32829	0.386;0.386	B;B	0.28139	0.086;0.086	T	0.21690	-1.0238	10	0.56958	D	0.05	-10.6092	5.3196	0.15874	0.202:0.6788:0.0:0.1191	.	34;34	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	N	34	ENSP00000340088:S34N;ENSP00000264820:S34N	ENSP00000340088:S34N	S	-	2	0	THEG	326870	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.561000	0.05957	0.321000	0.23259	0.561000	0.74099	AGC		0.667	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			T	375870	C	T	375870	3	4	393	1	0	0	0	0	1	0	0	0	15862	797	28	2	1070	2	THEG	19	375870	Missense_Mutation	SNP	C	TCGA-BP-4981-01A-01D-1462-08		375870	58753113	51	21744											
DOT1L	84444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2214517	2214517	+	Silent	SNP	G	G	A			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr19:2214517G>A	ENST00000398665.3	+	19	1881	c.1845G>A	c.(1843-1845)tcG>tcA	p.S615S	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	615					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.S615S(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGCTGTCGCTGGAGAAGC	0.647																																																2	Substitution - coding silent(2)	kidney(2)											35	40	38					19																	2214517		2125	4243	6368	SO:0001819	synonymous_variant	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1845G>A	19.37:g.2214517G>A			O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	5.939	0.357241	0.11239	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.69	-5.23	0.02798	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44128	-0.9348	4	.	.	.	-34.377	0.5912	0.00728	0.2848:0.1747:0.3038:0.2367	.	.	.	.	H	402	.	.	R	+	2	0	DOT1L	2165517	0.017000	0.18338	0.989000	0.46669	0.425000	0.31504	-0.905000	0.04075	-0.342000	0.08363	-1.103000	0.02113	CGC		0.647	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		A	2214517	G	A	2214517	2	1	393	1	0	0	0	0	0	0	0	1	4711	1074	38	1		1	DOT1L	19	2214517	Silent	SNP	G	TCGA-BP-4981-01A-01D-1462-08	1838647	2214517	56914466	52	21745											
VAV1	7409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6828883	6828883	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr19:6828883T>C	ENST00000602142.1	+	13	1319	c.1237T>C	c.(1237-1239)Tcg>Ccg	p.S413P	VAV1_ENST00000539284.1_Missense_Mutation_p.S316P|VAV1_ENST00000304076.2_Missense_Mutation_p.S413P|VAV1_ENST00000599806.1_Missense_Mutation_p.S358P|VAV1_ENST00000596764.1_Missense_Mutation_p.S381P	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	413	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S413P(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAAGATCACCTCGGTGGAACG	0.602																																																1	Substitution - Missense(1)	kidney(1)											60	49	53					19																	6828883		2203	4300	6503	SO:0001583	missense	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1237T>C	19.37:g.6828883T>C	ENSP00000472929:p.Ser413Pro		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617029	0.66672	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.78707	-1.2;-1.2	5.25	0.252	0.15545	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.452960	0.18935	N	0.127102	T	0.80670	0.4667	L	0.47190	1.495	0.29683	N	0.841583	P;D;D;D	0.59357	0.937;0.96;0.973;0.985	P;P;D;P	0.64321	0.543;0.741;0.924;0.89	T	0.76366	-0.2985	10	0.66056	D	0.02	.	10.8408	0.46715	0.7258:0.0:0.0:0.2742	.	316;413;358;413	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	P	413;316	ENSP00000302269:S413P;ENSP00000443242:S316P	ENSP00000302269:S413P	S	+	1	0	VAV1	6779883	0.000000	0.05858	0.428000	0.26697	0.915000	0.54546	0.523000	0.22925	-0.008000	0.14320	-0.480000	0.04831	TCG		0.602	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			C	6828883	T	C	6828883	3	2	393	1	0	0	0	0	1	0	0	0	17136	1551	54	3	1287	3	VAV1	19	6828883	Missense_Mutation	SNP	T	TCGA-BP-4981-01A-01D-1462-08	4614366	6828883	52300100	53	21746											
EMR3	84658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14749072	14749072	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr19:14749072G>T	ENST00000253673.5	-	11	1429	c.1329C>A	c.(1327-1329)caC>caA	p.H443Q	EMR3_ENST00000599900.1_Missense_Mutation_p.H228Q|EMR3_ENST00000344373.4_Missense_Mutation_p.H391Q|EMR3_ENST00000443157.2_Missense_Mutation_p.H317Q	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	443					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.H443Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TGAGGAAGAGGTGCACACCCT	0.562																																																1	Substitution - Missense(1)	kidney(1)											146	110	122					19																	14749072		2203	4300	6503	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1329C>A	19.37:g.14749072G>T	ENSP00000253673:p.His443Gln			Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	6.742	0.505719	0.12822	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.36699	1.24;1.24;1.24	4.44	1.11	0.20524	GPCR, family 2-like (1);	.	.	.	.	T	0.30978	0.0782	L	0.45352	1.415	0.25174	N	0.990254	P;P;B	0.36837	0.571;0.516;0.107	B;B;B	0.42163	0.378;0.26;0.088	T	0.20075	-1.0286	9	0.20046	T	0.44	.	7.9042	0.29752	0.2864:0.0:0.7136:0.0	.	317;391;443	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	Q	317;443;391	ENSP00000396208:H317Q;ENSP00000253673:H443Q;ENSP00000340758:H391Q	ENSP00000253673:H443Q	H	-	3	2	EMR3	14610072	0.991000	0.36638	0.651000	0.29564	0.012000	0.07955	0.044000	0.13992	0.516000	0.28340	-0.142000	0.14014	CAC		0.562	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		T	14749072	G	T	14749072	3	4	393	1	0	0	0	0	1	0	0	0	5108	1252	44	4	653	4	EMR3	19	14749072	Missense_Mutation	SNP	G	TCGA-BP-4981-01A-01D-1462-08	7920189	14749072	44379911	54	21747											
SIGLEC11	114132	broad.mit.edu;hgsc.bcm.edu	37	19	50461806	50461806	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr19:50461806G>A	ENST00000447370.2	-	8	1475	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	SIGLEC11_ENST00000426971.2_Intron|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	462					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P450L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGAGCAGGAGGGGCCCAGCAG	0.697																																																1	Substitution - Missense(1)	kidney(1)											16	19	18					19																	50461806		2195	4295	6490	SO:0001583	missense	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1385C>T	19.37:g.50461806G>A	ENSP00000412361:p.Pro462Leu			Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231639	0.58777	.	.	ENSG00000161640	ENST00000447370	D	0.85955	-2.05	2.86	2.86	0.33363	.	0.111688	0.41001	N	0.000962	D	0.90219	0.6942	M	0.83012	2.62	0.80722	D	1	D	0.56746	0.977	P	0.61722	0.893	D	0.90045	0.4145	9	.	.	.	.	9.8694	0.41164	0.0:0.0:1.0:0.0	.	462	Q96RL6	SIG11_HUMAN	L	462	ENSP00000412361:P462L	.	P	-	2	0	SIGLEC11	55153618	0.985000	0.35326	0.988000	0.46212	0.955000	0.61496	3.010000	0.49559	1.548000	0.49413	0.556000	0.70494	CCC		0.697	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		A	50461806	G	A	50461806	3	1	393	1	0	0	0	0	1	0	0	0	14313	1232	43	2	727	2	SIGLEC11	19	50461806	Missense_Mutation	SNP	G	TCGA-BP-4981-01A-01D-1462-08	35712734	50461806	8667177	55	21748											
CHGB	1114	broad.mit.edu;hgsc.bcm.edu	37	20	5903114	5903114	+	Silent	SNP	G	G	A			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr20:5903114G>A	ENST00000378961.4	+	4	528	c.324G>A	c.(322-324)ggG>ggA	p.G108G		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	108						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.G108G(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGCCCCAGGGGAGGAGGACA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											36	37	37					20																	5903114		2203	4300	6503	SO:0001819	synonymous_variant	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.324G>A	20.37:g.5903114G>A			A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	CCDS13092.1																																																																																				0.577	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		A	5903114	G	A	5903114	2	1	393	1	0	0	0	0	0	0	0	1	3341	1219	43	2		2	CHGB	20	5903114	Silent	SNP	G	TCGA-BP-4981-01A-01D-1462-08		5903114	57122406	56	21749											
PHF20	51230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34487450	34487450	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr20:34487450A>T	ENST00000374012.3	+	10	1570	c.1441A>T	c.(1441-1443)Aag>Tag	p.K481*	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	481					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K481*(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGGAATGGAGAAGTCACTGGA	0.493																																																1	Substitution - Nonsense(1)	kidney(1)											63	62	62					20																	34487450		2203	4300	6503	SO:0001587	stop_gained	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1441A>T	20.37:g.34487450A>T	ENSP00000363124:p.Lys481*		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Nonsense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	A	37	6.307182	0.97462	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	.	.	.	6.02	6.02	0.97574	.	0.298040	0.40469	N	0.001096	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	.	.	.	X	481	.	ENSP00000341900:K481X	K	+	1	0	PHF20	33950864	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.402000	0.73260	2.311000	0.77944	0.533000	0.62120	AAG		0.493	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		T	34487450	A	T	34487450	4	4	393	1	0	0	0	0	0	1	0	0	11833	247	9	5	1475	5	PHF20	20	34487450	Nonsense_Mutation	SNP	A	TCGA-BP-4981-01A-01D-1462-08	28584336	34487450	28538070	57	21750											
MC3R	4159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	54824097	54824097	+	Silent	SNP	C	C	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chr20:54824097C>T	ENST00000243911.2	+	1	310	c.198C>T	c.(196-198)aaC>aaT	p.N66N		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	66					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.N103N(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGGTCAGGAACGGCAACCTGC	0.562																																																2	Substitution - coding silent(2)	ovary(1)|kidney(1)											90	72	79					20																	54824097		2203	4300	6503	SO:0001819	synonymous_variant	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.198C>T	20.37:g.54824097C>T			Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	CCDS13449.2																																																																																				0.562	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			T	54824097	C	T	54824097	2	4	393	1	0	0	0	0	0	0	0	1	9367	535	19	1		1	MC3R	20	54824097	Silent	SNP	C	TCGA-BP-4981-01A-01D-1462-08	20336647	54824097	8201423	58	21751											
COL4A5	1287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107909822	107909822	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4981-01A-01D-1462-08	TCGA-BP-4981-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64a1f085-50cc-4129-a617-e0f691a58039	9e6bf5b2-d784-40eb-a221-80f2bf7894dd	g.chrX:107909822C>T	ENST00000361603.2	+	39	3795	c.3551C>T	c.(3550-3552)cCa>cTa	p.P1184L	COL4A5_ENST00000328300.6_Missense_Mutation_p.P1184L	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1184	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.P1184L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAGGGTGAACCAGGTGCTGTA	0.433									Alport syndrome with Diffuse Leiomyomatosis																																							1	Substitution - Missense(1)	kidney(1)											56	49	51					X																	107909822		2202	4300	6502	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3551C>T	X.37:g.107909822C>T	ENSP00000354505:p.Pro1184Leu		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661801	0.67700	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97731	-3.13;-4.51	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99878	1.1107	10	0.87932	D	0	.	18.4199	0.90587	0.0:1.0:0.0:0.0	.	1184;1184	E7EVY4;P29400	.;CO4A5_HUMAN	L	1184	ENSP00000331902:P1184L;ENSP00000354505:P1184L	ENSP00000331902:P1184L	P	+	2	0	COL4A5	107796478	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.556000	0.73932	2.290000	0.77057	0.600000	0.82982	CCA		0.433	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			T	107909822	C	T	107909822	3	4	393	1	0	0	0	0	1	0	0	0	3696	594	21	2	3705	2	COL4A5	23	107909822	Missense_Mutation	SNP	C	TCGA-BP-4981-01A-01D-1462-08		107909822	47360738	59	21752											
AGRN	375790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	970662	970662	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:970662C>A	ENST00000379370.2	+	3	519	c.469C>A	c.(469-471)Ccc>Acc	p.P157T	AGRN_ENST00000477585.1_3'UTR	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	157	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.P157T(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TCCAGATAAACCCGGGACCCA	0.612																																																1	Substitution - Missense(1)	kidney(1)											140	149	146					1																	970662		2203	4300	6503	SO:0001583	missense	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.469C>A	1.37:g.970662C>A	ENSP00000368678:p.Pro157Thr		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956833	0.34565	.	.	ENSG00000188157	ENST00000379370	T	0.41065	1.01	3.98	3.03	0.35002	Agrin NtA (2);Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.295883	0.22682	U	0.056927	T	0.37839	0.1018	N	0.24115	0.695	0.33608	D	0.603227	D	0.55385	0.971	P	0.53954	0.738	T	0.44498	-0.9324	10	0.22109	T	0.4	-1.4971	11.1594	0.48507	0.0:0.8126:0.1873:0.0	.	157	O00468	AGRIN_HUMAN	T	157	ENSP00000368678:P157T	ENSP00000368678:P157T	P	+	1	0	AGRN	960525	0.414000	0.25408	0.685000	0.30070	0.002000	0.02628	0.612000	0.24283	0.767000	0.33267	-0.508000	0.04489	CCC		0.612	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		A	970662	C	A	970662	3	1	394	1	0	0	0	0	1	0	0	0	397	507	18	4	479	4	AGRN	1	970662	Missense_Mutation	SNP	C	TCGA-BP-4982-01A-01D-1462-08		970662	248279959	1	21753											
ACADM	34	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	76205772	76205772	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:76205772A>G	ENST00000370841.4	+	7	1013	c.576A>G	c.(574-576)atA>atG	p.I192M	ACADM_ENST00000541113.1_Missense_Mutation_p.I156M|ACADM_ENST00000420607.2_Missense_Mutation_p.I196M|ACADM_ENST00000543667.1_Missense_Mutation_p.I3M|ACADM_ENST00000370834.5_Missense_Mutation_p.I225M	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	192					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.I192M(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGATGTGGATAACCAACGGAG	0.333																																																1	Substitution - Missense(1)	kidney(1)											108	111	110					1																	76205772		2203	4299	6502	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.576A>G	1.37:g.76205772A>G	ENSP00000359878:p.Ile192Met		Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.532238	0.64972	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.99319	-4.23;-4.23;-4.23;-5.74;-4.23	5.46	3.04	0.35103	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.042541	0.85682	D	0.000000	D	0.99468	0.9811	H	0.96691	3.865	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.99327	1.0908	10	0.87932	D	0	.	8.4721	0.32991	0.4086:0.469:0.0:0.1225	.	156;106;225;196;192	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	M	192;225;156;3;196	ENSP00000359878:I192M;ENSP00000359871:I225M;ENSP00000442324:I156M;ENSP00000446176:I3M;ENSP00000409612:I196M	ENSP00000359871:I225M	I	+	3	3	ACADM	75978360	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.409000	0.44583	0.321000	0.23259	0.528000	0.53228	ATA		0.333	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			G	76205772	A	G	76205772	3	3	394	1	0	0	0	0	1	0	0	0	113	352	13	3	614	3	ACADM	1	76205772	Missense_Mutation	SNP	A	TCGA-BP-4982-01A-01D-1462-08	75235110	76205772	173044849	2	21754											
CLCC1	23155	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109482394	109482394	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:109482394A>T	ENST00000369971.2	-	9	1034	c.905T>A	c.(904-906)gTt>gAt	p.V302D	CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000302500.4_Missense_Mutation_p.V181D|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.V252D|CLCC1_ENST00000415331.1_Missense_Mutation_p.V252D|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000369969.2_Missense_Mutation_p.V181D|CLCC1_ENST00000348264.2_Missense_Mutation_p.V117D|CLCC1_ENST00000356970.2_Missense_Mutation_p.V302D|CLCC1_ENST00000369968.2_Missense_Mutation_p.V117D	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	302						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)	p.V302D(1)|p.V252D(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GGTGAATGTAACTGCAAGTGC	0.388																																																2	Substitution - Missense(2)	kidney(2)											85	76	79					1																	109482394		2203	4300	6503	SO:0001583	missense	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.905T>A	1.37:g.109482394A>T	ENSP00000358988:p.Val302Asp		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390469	0.82902	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.17	5.17	0.71159	.	0.287716	0.34067	N	0.004294	T	0.60130	0.2245	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.997;0.996;0.997	D;D;P;D	0.72338	0.977;0.917;0.872;0.931	T	0.66384	-0.5937	10	0.72032	D	0.01	-19.6428	15.0035	0.71492	1.0:0.0:0.0:0.0	.	117;181;252;302	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	D	302;302;252;181;117;252;117;181	ENSP00000349456:V302D;ENSP00000358988:V302D;ENSP00000411591:V252D;ENSP00000358986:V181D;ENSP00000358985:V117D;ENSP00000358987:V252D;ENSP00000337243:V117D;ENSP00000306552:V181D	ENSP00000306552:V181D	V	-	2	0	CLCC1	109283917	0.862000	0.29867	0.999000	0.59377	0.977000	0.68977	6.819000	0.75262	1.939000	0.56221	0.443000	0.29094	GTT		0.388	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		T	109482394	A	T	109482394	3	4	394	1	0	0	0	0	1	0	0	0	3462	43	2	5	762	5	CLCC1	1	109482394	Missense_Mutation	SNP	A	TCGA-BP-4982-01A-01D-1462-08	33276622	109482394	139768227	3	21755											
UBL4B	164153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110655193	110655193	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:110655193T>A	ENST00000334179.3	+	1	132	c.37T>A	c.(37-39)Tgc>Agc	p.C13S	RP4-773N10.6_ENST00000554808.1_RNA	NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	13	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)		p.C13S(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGGCCAGAGATGCAGTCTGAA	0.592																																																1	Substitution - Missense(1)	kidney(1)											105	105	105					1																	110655193		2203	4300	6503	SO:0001583	missense	164153				CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.37T>A	1.37:g.110655193T>A	ENSP00000334044:p.Cys13Ser			Missense_Mutation	SNP	ENST00000334179.3	37	CCDS820.1	.	.	.	.	.	.	.	.	.	.	t	18.02	3.530028	0.64860	.	.	ENSG00000186150	ENST00000334179	T	0.72835	-0.69	4.17	4.17	0.49024	Ubiquitin supergroup (1);Ubiquitin (2);	0.132232	0.51477	U	0.000090	T	0.71813	0.3384	L	0.47078	1.49	0.39619	D	0.969995	D	0.76494	0.999	D	0.87578	0.998	T	0.76165	-0.3059	10	0.72032	D	0.01	-0.9326	10.8453	0.46739	0.0:0.0:0.0:1.0	.	13	Q8N7F7	UBL4B_HUMAN	S	13	ENSP00000334044:C13S	ENSP00000334044:C13S	C	+	1	0	UBL4B	110456716	1.000000	0.71417	0.996000	0.52242	0.749000	0.42624	3.511000	0.53400	1.747000	0.51819	0.529000	0.55759	TGC		0.592	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392303.1	NM_203412		A	110655193	T	A	110655193	3	1	394	1	0	0	0	0	1	0	0	0	16893	1464	51	5	39	5	UBL4B	1	110655193	Missense_Mutation	SNP	T	TCGA-BP-4982-01A-01D-1462-08	1172799	110655193	138595428	4	21756											
AP4B1	10717	broad.mit.edu;ucsc.edu	37	1	114439000	114439000	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:114439000C>A	ENST00000369569.1	-	8	1670	c.1390G>T	c.(1390-1392)Gtg>Ttg	p.V464L	AP4B1_ENST00000369567.1_Missense_Mutation_p.V296L|AP4B1_ENST00000256658.4_Missense_Mutation_p.V464L|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	464					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.V464L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCGACTTCACATTCTCAACA	0.478																																																1	Substitution - Missense(1)	kidney(1)											180	174	176					1																	114439000		2203	4300	6503	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1390G>T	1.37:g.114439000C>A	ENSP00000358582:p.Val464Leu		B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164426	0.38217	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.06768	3.26;3.26;3.26	6.04	6.04	0.98038	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.115297	0.64402	D	0.000012	T	0.02767	0.0083	N	0.19112	0.55	0.80722	D	1	B;B;B	0.17038	0.02;0.009;0.001	B;B;B	0.18871	0.023;0.02;0.005	T	0.35624	-0.9781	10	0.52906	T	0.07	-4.2682	10.8465	0.46746	0.0:0.861:0.0:0.139	.	296;464;365	B1ALD0;Q9Y6B7;B4DTG3	.;AP4B1_HUMAN;.	L	296;464;464	ENSP00000358580:V296L;ENSP00000358582:V464L;ENSP00000256658:V464L	ENSP00000256658:V464L	V	-	1	0	AP4B1	114240523	0.953000	0.32496	0.995000	0.50966	0.960000	0.62799	2.002000	0.40835	2.873000	0.98535	0.563000	0.77884	GTG		0.478	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		A	114439000	C	A	114439000	3	1	394	1	0	0	0	0	1	0	0	0	751	478	17	4	841	4	AP4B1	1	114439000	Missense_Mutation	SNP	C	TCGA-BP-4982-01A-01D-1462-08	3783807	114439000	134811621	5	21757											
C1orf65	164127	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223568377	223568377	+	Silent	SNP	C	C	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:223568377C>T	ENST00000366875.3	+	1	1663	c.1560C>T	c.(1558-1560)caC>caT	p.H520H		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		520								p.H520H(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCAGGAGTCACGTGCACAAGA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											101	112	108					1																	223568377		2202	4300	6502	SO:0001819	synonymous_variant	164127																														ENST00000366875.3:c.1560C>T	1.37:g.223568377C>T			Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	37	CCDS1537.1																																																																																				0.577	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			T	223568377	C	T	223568377	2	4	394	1	0	0	0	0	0	0	0	1	2057	535	19	1		1	C1orf65	1	223568377	Silent	SNP	C	TCGA-BP-4982-01A-01D-1462-08	109129377	223568377	25682244	6	21758											
PARP1	142	broad.mit.edu;ucsc.edu	37	1	226564845	226564845	+	Silent	SNP	G	G	C			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr1:226564845G>C	ENST00000366794.5	-	13	2048	c.1905C>G	c.(1903-1905)ccC>ccG	p.P635P		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	635					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P635P(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGAACTTTTTGGGATACTTCG	0.438								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								2	Substitution - coding silent(2)	lung(1)|kidney(1)											183	188	186					1																	226564845		2203	4300	6503	SO:0001819	synonymous_variant	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1905C>G	1.37:g.226564845G>C			B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	CCDS1554.1																																																																																				0.438	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		C	226564845	G	C	226564845	2	2	394	1	0	0	0	0	0	0	0	1	11456	1335	47	4		4	PARP1	1	226564845	Silent	SNP	G	TCGA-BP-4982-01A-01D-1462-08	2996468	226564845	22685776	7	21759											
PLB1	151056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	28752200	28752200	+	Silent	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr2:28752200C>A	ENST00000327757.5	+	7	386	c.342C>A	c.(340-342)atC>atA	p.I114I	PLB1_ENST00000422425.2_Silent_p.I114I	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	114	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.I114I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGACATCATCAGATATTTCA	0.502																																																2	Substitution - coding silent(2)	kidney(2)											196	171	180					2																	28752200		2203	4300	6503	SO:0001819	synonymous_variant	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.342C>A	2.37:g.28752200C>A			A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	2.378	-0.342666	0.05243	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.49	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.7514	9.2347	0.37459	0.0:0.9036:0.0:0.0964	.	.	.	.	X	113	.	.	S	+	2	0	PLB1	28605704	0.348000	0.24861	0.934000	0.37439	0.277000	0.26821	0.458000	0.21892	2.578000	0.87016	0.655000	0.94253	TCA		0.502	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			A	28752200	C	A	28752200	2	1	394	1	0	0	0	0	0	0	0	1	12026	816	29	4		4	PLB1	2	28752200	Silent	SNP	C	TCGA-BP-4982-01A-01D-1462-08		28752200	214447173	8	21760											
VHL	7428	broad.mit.edu	37	3	10183794	10183794	+	Nonsense_Mutation	SNP	G	G	A	rs119103277		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454;Illumina Miseq;PacBio			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:10183794G>A	ENST00000256474.2	+	1	1103	c.263G>A	c.(262-264)tGg>tAg	p.W88*	VHL_ENST00000345392.2_Nonsense_Mutation_p.W88*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	88			W -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|W -> S (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W88*(6)|p.W88L(3)|p.W88fs*71(3)|p.V87_W88del(2)|p.W88S(2)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGCCCGTATGGCTCAACTTC	0.726		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	19	Substitution - Nonsense(6)|Substitution - Missense(5)|Deletion - Frameshift(5)|Deletion - In frame(2)|Complex - deletion inframe(1)	kidney(17)|endometrium(1)|soft_tissue(1)	GRCh37	CM951277|HX971376	VHL	M|X	rs119103277						13	16	15					3																	10183794		2111	4166	6277	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.263G>A	3.37:g.10183794G>A	ENSP00000256474:p.Trp88*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.880416	0.97062	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5857	16.0203	0.80478	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000256474:W88X	W	+	2	0	VHL	10158794	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	5.961000	0.70356	2.368000	0.80403	0.479000	0.44913	TGG		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183794	G	A	10183794	4	1	394	1	0	0	0	0	0	1	0	0	17167	1357	47	2	265	2	VHL	3	10183794	Nonsense_Mutation	SNP	G	TCGA-BP-4982-01A-01D-1462-08		10183794	187838636	9	21761											
XPC	7508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	14188848	14188848	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:14188848T>G	ENST00000285021.7	-	15	2760	c.2546A>C	c.(2545-2547)aAg>aCg	p.K849T	AC093495.4_ENST00000428681.3_RNA|RP11-434D12.1_ENST00000608606.1_Intron|AC093495.4_ENST00000420253.1_RNA|RP11-434D12.1_ENST00000601399.1_Intron|XPC_ENST00000449060.2_Missense_Mutation_p.K812T	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	849	Interaction with CETN2.|Interaction with ERCC2 and GTF2H1.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.K849T(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCCAGCAACTTCCAGTTCCC	0.493			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"xeroderma pigmentosum, complementation group C"		E	1	Substitution - Missense(1)	kidney(1)											58	59	59					3																	14188848		1934	4143	6077	SO:0001583	missense	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2546A>C	3.37:g.14188848T>G	ENSP00000285021:p.Lys849Thr		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.833076	0.50951	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.39406	1.08;1.11	5.18	5.18	0.71444	.	0.114494	0.64402	D	0.000013	T	0.46386	0.1390	M	0.75615	2.305	0.51767	D	0.999935	P;P	0.42010	0.768;0.768	B;B	0.39379	0.298;0.298	T	0.53704	-0.8401	10	0.52906	T	0.07	-32.864	15.2016	0.73142	0.0:0.0:0.0:1.0	.	812;849	E9PH69;Q01831	.;XPC_HUMAN	T	849;812	ENSP00000285021:K849T;ENSP00000404002:K812T	ENSP00000285021:K849T	K	-	2	0	XPC	14163849	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.964000	0.63701	2.171000	0.68590	0.482000	0.46254	AAG		0.493	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		G	14188848	T	G	14188848	3	3	394	1	0	0	0	0	1	0	0	0	17446	1609	56	5	284	5	XPC	3	14188848	Missense_Mutation	SNP	T	TCGA-BP-4982-01A-01D-1462-08	4005054	14188848	183833582	10	21762											
SCAP	22937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47455554	47455554	+	Silent	SNP	T	T	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:47455554T>A	ENST00000265565.5	-	23	4042	c.3630A>T	c.(3628-3630)tcA>tcT	p.S1210S	SCAP_ENST00000441517.2_Silent_p.S954S|SCAP_ENST00000545718.1_Silent_p.S817S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1210	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.S1210S(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCAGGTTGTCTGAGATGACAC	0.542																																					Pancreas(149;978 1908 29304 37806 46700)											1	Substitution - coding silent(1)	kidney(1)											68	72	70					3																	47455554		2203	4300	6503	SO:0001819	synonymous_variant	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3630A>T	3.37:g.47455554T>A			Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	CCDS2755.2																																																																																				0.542	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		A	47455554	T	A	47455554	2	1	394	1	0	0	0	0	0	0	0	1	13883	1567	55	5		5	SCAP	3	47455554	Silent	SNP	T	TCGA-BP-4982-01A-01D-1462-08	33266706	47455554	150566876	11	21763											
NDUFAF3	25915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49059885	49059885	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:49059885A>G	ENST00000326925.6	+	2	1318	c.184A>G	c.(184-186)Agc>Ggc	p.S62G	MIR425_ENST00000362162.1_RNA|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.S5G|MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.S5G|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.S5G	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	62					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.S62G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GTACATCGACAGCTACAACAG	0.652																																																1	Substitution - Missense(1)	kidney(1)											22	23	23					3																	49059885		2200	4298	6498	SO:0001583	missense	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.184A>G	3.37:g.49059885A>G	ENSP00000323076:p.Ser62Gly			Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939286	0.52972	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.29	2.75	0.32379	.	0.163360	0.64402	D	0.000003	T	0.55337	0.1914	N	0.25485	0.75	0.37386	D	0.912252	B	0.25048	0.117	B	0.28011	0.085	T	0.50381	-0.8835	10	0.02654	T	1	-24.6886	9.8529	0.41068	0.7284:0.0:0.0:0.2716	.	62	Q9BU61	NDUF3_HUMAN	G	5;62;5;5	ENSP00000323003:S5G;ENSP00000323076:S62G;ENSP00000378843:S5G;ENSP00000402465:S5G	ENSP00000323003:S5G	S	+	1	0	NDUFAF3	49034889	0.992000	0.36948	1.000000	0.80357	0.851000	0.48451	2.460000	0.45031	0.825000	0.34637	-0.327000	0.08410	AGC		0.652	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		G	49059885	A	G	49059885	3	3	394	1	0	0	0	0	1	0	0	0	10278	188	7	3	190	3	NDUFAF3	3	49059885	Missense_Mutation	SNP	A	TCGA-BP-4982-01A-01D-1462-08	1604331	49059885	148962545	12	21764											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52702612	52702612	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:52702612T>A	ENST00000296302.7	-	3	287	c.286A>T	c.(286-288)Aaa>Taa	p.K96*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K96*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K96*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K96*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K96*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.K96*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K96*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K96*			Q86U86	PB1_HUMAN	polybromo 1	96	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K96*(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGTTGGATTTTCATCAAGTCA	0.308			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											77	71	73					3																	52702612		2203	4298	6501	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.286A>T	3.37:g.52702612T>A	ENSP00000296302:p.Lys96*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	23.6	4.432152	0.83776	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.651	15.906	0.79430	0.0:0.0:0.0:1.0	.	.	.	.	X	96;96;96;96;96;96;96;96;96;40;96;96;96	.	ENSP00000296302:K96X	K	-	1	0	PBRM1	52677652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.292000	0.78731	2.216000	0.71823	0.533000	0.62120	AAA		0.308	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52702612	T	A	52702612	4	1	394	1	0	0	0	0	0	1	0	0	11493	1792	62	5	4726	5	PBRM1	3	52702612	Nonsense_Mutation	SNP	T	TCGA-BP-4982-01A-01D-1462-08	3642727	52702612	145319818	13	21765											
NIT2	56954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	100059917	100059918	+	Splice_Site	DNP	GC	GC	TT			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr3:100059917_100059918GC>TT	ENST00000394140.4	+	4	339_340	c.248_249GC>TT	c.(247-249)gGC>gTT	p.G83V		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	83	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)	p.G83V(1)|p.G83G(1)|p.G83>?(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TCAATGAAAGGCTCTATCCCTG	0.371																																																3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001630	splice_region_variant	56954			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	Exception_encountered	3.37:g.100059917_100059918delinsTT			B2R9A3|D3DN47|Q8WUF0	Missense_Mutation|Silent	SNP	ENST00000394140.4	37	CCDS33806.1																																																																																				0.371	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	Missense_Mutation	TT	100059918	GC	TT	100059917	5	4	394	1	0	0	0	0	0	0	1	0	10436	1217	42	4	262	4	NIT2	3	100059917	Splice_Site	DNP	GC	TCGA-BP-4982-01A-01D-1462-08	47357305	100059917	97962513	14	21766											
SKIV2L2	23517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54618206	54618206	+	Silent	SNP	T	T	C			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr5:54618206T>C	ENST00000230640.5	+	2	440	c.186T>C	c.(184-186)aaT>aaC	p.N62N	SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	62					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.N62N(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATGGAAAAAATAAGAGAGATG	0.318																																					Melanoma(2;92 134 23744 29976 33782)											1	Substitution - coding silent(1)	kidney(1)											97	108	104					5																	54618206		2203	4300	6503	SO:0001819	synonymous_variant	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.186T>C	5.37:g.54618206T>C			Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																				0.318	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			C	54618206	T	C	54618206	2	2	394	1	0	0	0	0	0	0	0	1	14366	1403	49	3		3	SKIV2L2	5	54618206	Silent	SNP	T	TCGA-BP-4982-01A-01D-1462-08		54618206	126297054	15	21767											
OR2H2	7932	broad.mit.edu;hgsc.bcm.edu	37	6	29556320	29556320	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr6:29556320C>T	ENST00000383640.2	+	1	638	c.599C>T	c.(598-600)gCc>gTc	p.A200V	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	200					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A200V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GTGGCTGTTGCCAGTGTCTTC	0.532																																																1	Substitution - Missense(1)	kidney(1)											156	135	143					6																	29556320		1511	2708	4219	SO:0001583	missense	7932				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"GPCR / Class A : Olfactory receptors"	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.599C>T	6.37:g.29556320C>T	ENSP00000373136:p.Ala200Val		Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	C	0.285	-0.983717	0.02180	.	.	ENSG00000204657	ENST00000383640	T	0.00032	8.88	4.24	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.184697	0.26590	N	0.023524	T	0.00039	0.0001	N	0.05124	-0.11	0.09310	N	1	P	0.43287	0.802	P	0.49922	0.626	T	0.13737	-1.0498	10	0.02654	T	1	.	5.1115	0.14811	0.0:0.6335:0.1745:0.192	.	200	O95918	OR2H2_HUMAN	V	200	ENSP00000373136:A200V	ENSP00000373136:A200V	A	+	2	0	OR2H2	29664299	0.000000	0.05858	0.586000	0.28679	0.927000	0.56198	-0.082000	0.11304	0.413000	0.25759	0.585000	0.79938	GCC		0.532	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			T	29556320	C	T	29556320	3	4	394	1	0	0	0	0	1	0	0	0	11004	739	26	2	601	2	OR2H2	6	29556320	Missense_Mutation	SNP	C	TCGA-BP-4982-01A-01D-1462-08		29556320	141558747	16	21768											
TCP11	6954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35086135	35086135	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr6:35086135G>T	ENST00000512012.1	-	9	1579	c.1423C>A	c.(1423-1425)Cag>Aag	p.Q475K	TCP11_ENST00000444780.2_Missense_Mutation_p.Q483K|TCP11_ENST00000373974.4_Missense_Mutation_p.Q442K|TCP11_ENST00000373979.2_Missense_Mutation_p.Q413K|TCP11_ENST00000418521.2_Missense_Mutation_p.Q412K|TCP11_ENST00000244645.3_Missense_Mutation_p.Q413K|TCP11_ENST00000412155.2_Missense_Mutation_p.Q437K|TCP11_ENST00000311875.5_Missense_Mutation_p.Q488K			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	475					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q488K(1)|p.Q413K(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AACACCTGCTGATTGTGATGT	0.488																																																2	Substitution - Missense(2)	kidney(2)											168	162	164					6																	35086135		2203	4300	6503	SO:0001583	missense	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1423C>A	6.37:g.35086135G>T	ENSP00000425995:p.Gln475Lys		B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37		.	.	.	.	.	.	.	.	.	.	G	6.256	0.415428	0.11870	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012	T;T;T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87	5.32	5.32	0.75619	.	0.077795	0.49916	D	0.000128	T	0.03739	0.0106	L	0.37800	1.135	0.35387	D	0.790441	B;B;P;P;B;B	0.36222	0.294;0.294;0.544;0.544;0.294;0.036	B;B;B;B;B;B	0.36959	0.124;0.124;0.237;0.237;0.151;0.03	T	0.37454	-0.9705	10	0.12430	T	0.62	.	12.021	0.53344	0.0:0.0:0.7112:0.2888	.	442;437;483;548;475;413	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	K	413;437;413;488;483;442;412;475	ENSP00000363091:Q413K;ENSP00000402816:Q437K;ENSP00000244645:Q413K;ENSP00000308708:Q488K;ENSP00000404479:Q483K;ENSP00000363085:Q442K;ENSP00000415320:Q412K;ENSP00000425995:Q475K	ENSP00000244645:Q413K	Q	-	1	0	TCP11	35194113	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.272000	0.58908	2.480000	0.83734	0.563000	0.77884	CAG		0.488	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		T	35086135	G	T	35086135	3	4	394	1	0	0	0	0	1	0	0	0	15718	1299	45	4	92	4	TCP11	6	35086135	Missense_Mutation	SNP	G	TCGA-BP-4982-01A-01D-1462-08	5529815	35086135	136028932	17	21769											
CUX1	1523	broad.mit.edu;hgsc.bcm.edu	37	7	101813771	101813771	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr7:101813771C>A	ENST00000292535.7	+	10	807	c.769C>A	c.(769-771)Ctc>Atc	p.L257I	CUX1_ENST00000292538.4_Missense_Mutation_p.L268I|CUX1_ENST00000547394.2_Missense_Mutation_p.L252I|CUX1_ENST00000425244.2_Missense_Mutation_p.L222I|CUX1_ENST00000550008.2_Missense_Mutation_p.L257I|CUX1_ENST00000393824.3_Missense_Mutation_p.L231I|CUX1_ENST00000437600.4_Missense_Mutation_p.L268I|CUX1_ENST00000360264.3_Missense_Mutation_p.L268I|CUX1_ENST00000549414.2_Missense_Mutation_p.L257I|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Missense_Mutation_p.L257I|CUX1_ENST00000546411.2_Missense_Mutation_p.L257I	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	257					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.L268I(1)|p.L257I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGGGAACAGCTCTCATCGGC	0.577																																																2	Substitution - Missense(2)	kidney(2)											43	34	37					7																	101813771		2203	4299	6502	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.769C>A	7.37:g.101813771C>A	ENSP00000292535:p.Leu257Ile		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811462	0.70797	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.81247	0.93;0.93;0.93;2.19;0.8;0.93;-1.47;0.93;0.93;0.93	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.87156	0.6107	L	0.42487	1.325	0.80722	D	1	D;D;D;D;D;P;D	0.71674	0.997;0.997;0.997;0.958;0.997;0.825;0.998	P;D;D;P;P;B;D	0.77557	0.837;0.978;0.978;0.693;0.894;0.28;0.99	D	0.86936	0.2076	10	0.59425	D	0.04	-25.3176	20.0826	0.97783	0.0:1.0:0.0:0.0	.	231;257;222;252;268;268;268	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	I	268;252;268;222;268;257;257;257;257;257	ENSP00000292538:L268I;ENSP00000449371:L252I;ENSP00000353401:L268I;ENSP00000409745:L222I;ENSP00000414091:L268I;ENSP00000292535:L257I;ENSP00000446630:L257I;ENSP00000447373:L257I;ENSP00000450125:L257I;ENSP00000451558:L257I	ENSP00000292535:L257I	L	+	1	0	CUX1	101600491	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.999000	0.76283	2.746000	0.94184	0.655000	0.94253	CTC		0.577	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		A	101813771	C	A	101813771	3	1	394	1	0	0	0	0	1	0	0	0	4066	797	28	4	874	4	CUX1	7	101813771	Missense_Mutation	SNP	C	TCGA-BP-4982-01A-01D-1462-08		101813771	57324892	18	21770											
UBE2H	7328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129592346	129592346	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr7:129592346T>A	ENST00000355621.3	-	1	443	c.50A>T	c.(49-51)aAg>aTg	p.K17M	UBE2H_ENST00000473814.2_Missense_Mutation_p.K17M|Y_RNA_ENST00000362646.1_RNA|RP11-306G20.1_ENST00000587038.1_RNA	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	17					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.K17M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					AGGATACAGCTTGACCACGTC	0.687																																																1	Substitution - Missense(1)	kidney(1)											150	126	134					7																	129592346		2203	4300	6503	SO:0001583	missense	7328			BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12484	protein-coding gene	gene with protein product	"GID complex subunit 3, UBC8 homolog (S. cerevisiae)"	601082	"ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)", "ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.50A>T	7.37:g.129592346T>A	ENSP00000347836:p.Lys17Met		A4D1L6|C9JY93|P37286|Q7Z6F4	Missense_Mutation	SNP	ENST00000355621.3	37	CCDS5814.1	.	.	.	.	.	.	.	.	.	.	t	16.75	3.208265	0.58343	.	.	ENSG00000186591	ENST00000355621;ENST00000473814;ENST00000472396	T;T;T	0.75477	-0.26;-0.94;-0.8	3.45	3.45	0.39498	Ubiquitin-conjugating enzyme/RWD-like (1);	0.366263	0.28198	N	0.016231	T	0.77837	0.4190	M	0.83223	2.63	0.80722	D	1	B;P	0.50066	0.216;0.931	B;P	0.47981	0.243;0.563	T	0.80908	-0.1172	10	0.87932	D	0	.	8.6258	0.33888	0.0:0.0:0.0:1.0	.	17;17	A4D1L6;P62256	.;UBE2H_HUMAN	M	17	ENSP00000347836:K17M;ENSP00000419097:K17M;ENSP00000419689:K17M	ENSP00000347836:K17M	K	-	2	0	UBE2H	129379582	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.593000	0.61034	1.804000	0.52760	0.248000	0.18094	AAG		0.687	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349327.2	NM_003344		A	129592346	T	A	129592346	3	1	394	1	0	0	0	0	1	0	0	0	16863	1609	56	5	529	5	UBE2H	7	129592346	Missense_Mutation	SNP	T	TCGA-BP-4982-01A-01D-1462-08	27778575	129592346	29546317	19	21771											
WHSC1L1	54904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38173525	38173525	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr8:38173525T>C	ENST00000317025.8	-	10	2408	c.1891A>G	c.(1891-1893)Aag>Gag	p.K631E	WHSC1L1_ENST00000525081.1_5'Flank|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.K631E|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.K631E	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	631					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.K631E(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTCCTTTTCTTTAGAGGTTTA	0.383			T	NUP98	AML																																		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	1	Substitution - Missense(1)	kidney(1)											120	114	116					8																	38173525		2008	4180	6188	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1891A>G	8.37:g.38173525T>C	ENSP00000313983:p.Lys631Glu		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709083	0.89018	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.95656	-3.77;-3.77;-3.77	5.85	5.85	0.93711	.	0.000000	0.50627	U	0.000110	D	0.97228	0.9094	M	0.65975	2.015	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.80764	0.985;0.994;0.985	D	0.97604	1.0125	10	0.59425	D	0.04	.	16.236	0.82375	0.0:0.0:0.0:1.0	.	631;631;631	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	E	631;631;568;631	ENSP00000393284:K631E;ENSP00000313983:K631E;ENSP00000434730:K631E	ENSP00000313983:K631E	K	-	1	0	WHSC1L1	38292682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.666000	0.83877	2.237000	0.73441	0.528000	0.53228	AAG		0.383	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		C	38173525	T	C	38173525	3	2	394	1	0	0	0	0	1	0	0	0	17368	1850	64	3	2482	3	WHSC1L1	8	38173525	Missense_Mutation	SNP	T	TCGA-BP-4982-01A-01D-1462-08		38173525	108190497	20	21772											
SPAG8	4882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35810979	35810979	+	IGR	SNP	G	G	A	rs199668156		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr9:35810979G>A	ENST00000342694.2	+	0	3686				HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000484764.1_Missense_Mutation_p.R312W|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Missense_Mutation_p.R314W|SPAG8_ENST00000396638.2_Missense_Mutation_p.R314W|AL133410.1_ENST00000582432.1_RNA	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R314W(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGCAGTCCCCGGTGTCCGTGT	0.537																																																2	Substitution - Missense(2)	kidney(2)											151	153	153					9																	35810979		2203	4300	6503	SO:0001628	intergenic_variant	26206			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810979G>A			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135390	0.56828	.	.	ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638	T;T;T	0.35236	1.32;1.36;1.36	5.99	5.05	0.67936	.	0.612018	0.14265	N	0.330541	T	0.43897	0.1268	L	0.40543	1.245	0.26472	N	0.975264	D;D	0.71674	0.998;0.998	P;P	0.53649	0.731;0.731	T	0.32561	-0.9902	10	0.87932	D	0	-3.4433	14.0475	0.64714	0.0:0.1637:0.8363:0.0	.	314;314	E9PDV6;Q99932-2	.;.	W	314;312;314	ENSP00000340982:R314W;ENSP00000418072:R312W;ENSP00000379878:R314W	ENSP00000340982:R314W	R	-	1	2	SPAG8	35800979	0.986000	0.35501	0.989000	0.46669	0.734000	0.41952	2.049000	0.41288	2.840000	0.97914	0.655000	0.94253	CGG		0.537	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			A	35810979	G	A	35810979	1	1	394	0	1	0	0	0	0	0	0	0	14990	1115	39	1		1	SPAG8	9	35810979	IGR	SNP	G	TCGA-BP-4982-01A-01D-1462-08		35810979	105402452	21	21773											
SYT15	83849	broad.mit.edu;hgsc.bcm.edu	37	10	46968685	46968685	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr10:46968685T>G	ENST00000374321.4	-	3	317	c.251A>C	c.(250-252)cAa>cCa	p.Q84P	SYT15_ENST00000503753.1_Missense_Mutation_p.Q84P|SYT15_ENST00000374323.4_Missense_Mutation_p.Q137P|SYT15_ENST00000374325.3_Missense_Mutation_p.Q84P|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q84P(2)|p.Q136P(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						ATCTCGGCCTTGAAGGGTTGG	0.642																																					Ovarian(57;1152 1428 19651 37745)											3	Substitution - Missense(3)	kidney(3)											63	75	71					10																	46968685		2146	4252	6398	SO:0001583	missense	83849			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.251A>C	10.37:g.46968685T>G	ENSP00000363441:p.Gln84Pro		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	t	10.75	1.439203	0.25900	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374323;ENST00000374321	T;T;T;T	0.15017	2.46;2.46;2.78;2.69	4.37	1.93	0.25924	.	0.962198	0.08675	N	0.910301	T	0.17066	0.0410	M	0.65975	2.015	0.32766	N	0.504383	P;B	0.36535	0.557;0.019	B;B	0.30943	0.122;0.004	T	0.22765	-1.0207	10	0.46703	T	0.11	.	6.1608	0.20364	0.0:0.3466:0.0:0.6534	.	84;84	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	P	84;84;84;137;84	ENSP00000363445:Q84P;ENSP00000427607:Q84P;ENSP00000363443:Q137P;ENSP00000363441:Q84P	ENSP00000363441:Q84P	Q	-	2	0	SYT15	46388691	0.923000	0.31300	0.893000	0.35052	0.428000	0.31595	0.276000	0.18716	0.296000	0.22592	-0.375000	0.07067	CAA		0.642	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		G	46968685	T	G	46968685	3	3	394	1	0	0	0	0	1	0	0	0	15476	1812	63	5	1092	5	SYT15	10	46968685	Missense_Mutation	SNP	T	TCGA-BP-4982-01A-01D-1462-08		46968685	88566062	22	21774											
SUPV3L1	6832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70967647	70967647	+	Silent	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr10:70967647C>A	ENST00000359655.4	+	14	1935	c.1875C>A	c.(1873-1875)ctC>ctA	p.L625L		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	625					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.L625L(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTAAAGACCTCATGGATCTTG	0.418																																																1	Substitution - coding silent(1)	kidney(1)											174	161	166					10																	70967647		2203	4300	6503	SO:0001819	synonymous_variant	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1875C>A	10.37:g.70967647C>A			A8K301|O43630	Silent	SNP	ENST00000359655.4	37	CCDS7287.1																																																																																				0.418	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		A	70967647	C	A	70967647	2	1	394	1	0	0	0	0	0	0	0	1	15407	813	29	4		4	SUPV3L1	10	70967647	Silent	SNP	C	TCGA-BP-4982-01A-01D-1462-08	23998962	70967647	64567100	23	21775											
HPSE2	60495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	100481428	100481428	+	Silent	SNP	G	G	A	rs142810016		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr10:100481428G>A	ENST00000370552.3	-	5	1001	c.942C>T	c.(940-942)atC>atT	p.I314I	HPSE2_ENST00000370549.1_Silent_p.I256I|HPSE2_ENST00000370546.1_Silent_p.I314I|HPSE2_ENST00000404542.1_Silent_p.I202I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	314					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.I314I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CTAGGAGGGCGATGACATTCT	0.398																																																2	Substitution - coding silent(2)	kidney(2)											53	52	52					10																	100481428		2203	4300	6503	SO:0001819	synonymous_variant	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.942C>T	10.37:g.100481428G>A			Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	CCDS7477.1																																																																																				0.398	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		A	100481428	G	A	100481428	2	1	394	1	0	0	0	0	0	0	0	1	7347	1048	37	1		1	HPSE2	10	100481428	Silent	SNP	G	TCGA-BP-4982-01A-01D-1462-08	29513781	100481428	35053319	24	21776											
CCDC59	29080	hgsc.bcm.edu;ucsc.edu	37	12	82752142	82752143	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr12:82752142_82752143delCT	ENST00000256151.7	-	1	424_425	c.13_14delAG	c.(13-15)aggfs	p.R6fs	METTL25_ENST00000248306.3_5'Flank|CCDC59_ENST00000548126.1_Intron	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CGCGGACCGCCTCACCGGCGCC	0.574											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	29080			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.13_14delAG	12.37:g.82752142_82752143delCT	ENSP00000256151:p.Arg6fs	1216	Q9H2V5|Q9NW62	Frame_Shift_Del	DEL	ENST00000256151.7	37	CCDS9023.1																																																																																				0.574	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408186.1	NM_014167		-	82752143	CT	-	82752142	7	5	394	1	0	1	0	1	0	0	0	0	2831	681	24	0	727	0	CCDC59	12	82752142	Frame_Shift_Del	DEL	CT	TCGA-BP-4982-01A-01D-1462-08		82752142	51099753	25	21777											
ACIN1	22985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23549183	23549183	+	Missense_Mutation	SNP	T	T	A	rs112438189		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr14:23549183T>A	ENST00000262710.1	-	6	1862	c.1535A>T	c.(1534-1536)tAc>tTc	p.Y512F	ACIN1_ENST00000457657.1_Missense_Mutation_p.Y472F|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.Y454F|ACIN1_ENST00000555053.1_Missense_Mutation_p.Y512F	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	512					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y512F(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGGGCTGAGTAGTCAGCCAG	0.493																																																1	Substitution - Missense(1)	kidney(1)											107	113	111					14																	23549183		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1535A>T	14.37:g.23549183T>A	ENSP00000262710:p.Tyr512Phe		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	T	2.187	-0.386099	0.04966	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.18174	2.23;2.23;2.23	4.88	1.58	0.23477	.	1.058680	0.07538	N	0.913411	T	0.07548	0.0190	N	0.08118	0	0.09310	N	1	B;B;B	0.27316	0.175;0.109;0.109	B;B;B	0.26416	0.069;0.031;0.031	T	0.41466	-0.9507	10	0.10111	T	0.7	0.5527	5.1091	0.14800	0.0:0.2548:0.3439:0.4013	.	512;512;472	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	F	512;472;512	ENSP00000262710:Y512F;ENSP00000405677:Y472F;ENSP00000451328:Y512F	ENSP00000262710:Y512F	Y	-	2	0	ACIN1	22619023	1.000000	0.71417	0.805000	0.32314	0.780000	0.44128	0.832000	0.27490	0.102000	0.17638	0.528000	0.53228	TAC		0.493	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		A	23549183	T	A	23549183	3	1	394	1	0	0	0	0	1	0	0	0	142	1638	57	5	2693	5	ACIN1	14	23549183	Missense_Mutation	SNP	T	TCGA-BP-4982-01A-01D-1462-08		23549183	83800357	26	21778											
GLDN	342035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51696755	51696755	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr15:51696755C>A	ENST00000335449.6	+	10	1516	c.1460C>A	c.(1459-1461)aCc>aAc	p.T487N	GLDN_ENST00000396399.2_Missense_Mutation_p.T363N	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	487	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T487N(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GTCACAGACACCAAAGATATG	0.448																																																1	Substitution - Missense(1)	kidney(1)											167	149	155					15																	51696755		2196	4293	6489	SO:0001583	missense	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1460C>A	15.37:g.51696755C>A	ENSP00000335196:p.Thr487Asn		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048270	0.75846	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.90620	-2.7;-2.7	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.44688	D	0.000434	D	0.94679	0.8284	M	0.70595	2.14	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.94637	0.7827	10	0.66056	D	0.02	.	15.6492	0.77078	0.1377:0.8623:0.0:0.0	.	487	Q6ZMI3	GLDN_HUMAN	N	487;363;363	ENSP00000335196:T487N;ENSP00000379681:T363N	ENSP00000335196:T487N	T	+	2	0	GLDN	49484047	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.509000	0.60448	2.758000	0.94735	0.563000	0.77884	ACC		0.448	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		A	51696755	C	A	51696755	3	1	394	1	0	0	0	0	1	0	0	0	6436	507	18	4	1498	4	GLDN	15	51696755	Missense_Mutation	SNP	C	TCGA-BP-4982-01A-01D-1462-08		51696755	50834637	27	21779											
NDE1	54820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15761201	15761202	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr16:15761201_15761202GC>AG	ENST00000396353.2	+	4	968_969	c.142_143GC>AG	c.(142-144)GCt>AGt	p.A48S	NDE1_ENST00000342673.5_Missense_Mutation_p.A48S|NDE1_ENST00000396354.1_Missense_Mutation_p.A48S|NDE1_ENST00000396355.1_Missense_Mutation_p.A48S			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	48	Self-association. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)	p.A48>?(1)|p.A48G(1)|p.A48T(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGAATATGAAGCTGAATTGGAG	0.45																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	54820			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	Exception_encountered	16.37:g.15761201_15761202delinsAG	ENSP00000379641:p.Ala48Ser		Q49AQ2	Missense_Mutation	SNP	ENST00000396353.2	37																																																																																					0.45	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		AG	15761202	GC	AG	15761201	3	1	394	1	0	0	0	0	1	0	0	0	10245	971	34	2	148	2	NDE1	16	15761201	Missense_Mutation	DNP	GC	TCGA-BP-4982-01A-01D-1462-08		15761201	74593552	28	21780											
RABEP1	9135	hgsc.bcm.edu	37	17	5268432	5268432	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr17:5268432C>A	ENST00000546142.2	+	11	1871	c.1684C>A	c.(1684-1686)Ctg>Atg	p.L562M	RABEP1_ENST00000262477.6_Missense_Mutation_p.L562M|NUP88_ENST00000573169.1_Intron|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Missense_Mutation_p.L562M|RABEP1_ENST00000537505.1_Missense_Mutation_p.L519M|RABEP1_ENST00000341923.6_Missense_Mutation_p.L562M			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	562					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.L562M(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AAAACTACAGCTGATGCTAAG	0.323																																																1	Substitution - Missense(1)	kidney(1)											98	89	92					17																	5268432		1835	4091	5926	SO:0001583	missense	9135			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1684C>A	17.37:g.5268432C>A	ENSP00000437701:p.Leu562Met		B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274134	0.23221	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	4.96	0.54	0.17163	Rabaptin coiled-coil domain (1);	0.647173	0.15290	N	0.270214	T	0.13543	0.0328	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.31026	0.088;0.108;0.108;0.304;0.088	B;B;B;B;B	0.32022	0.086;0.139;0.139;0.139;0.046	T	0.08868	-1.0701	10	0.56958	D	0.05	-1.1748	3.8334	0.08883	0.0757:0.252:0.4066:0.2657	.	519;519;555;562;562	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	M	562;562;555;562;562;519	ENSP00000262477:L562M;ENSP00000386150:L562M;ENSP00000437701:L562M;ENSP00000339569:L562M;ENSP00000445408:L519M	ENSP00000262477:L562M	L	+	1	2	RABEP1	5209156	1.000000	0.71417	0.989000	0.46669	0.725000	0.41563	2.988000	0.49386	0.061000	0.16311	-1.113000	0.02065	CTG		0.323	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		A	5268432	C	A	5268432	3	1	394	1	0	0	0	0	1	0	0	0	12967	796	28	4	1726	4	RABEP1	17	5268432	Missense_Mutation	SNP	C	TCGA-BP-4982-01A-01D-1462-08		5268432	75926778	29	21781											
LUC7L3	51747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48818534	48818534	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr17:48818534T>G	ENST00000505658.1	+	4	467	c.278T>G	c.(277-279)cTt>cGt	p.L93R	LUC7L3_ENST00000393227.2_Missense_Mutation_p.L93R|LUC7L3_ENST00000544170.1_Missense_Mutation_p.L17R|LUC7L3_ENST00000240304.1_Missense_Mutation_p.L93R			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	93					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.L93R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						CAGAGCTTACTTGCAGAAGTA	0.408																																																1	Substitution - Missense(1)	kidney(1)											164	159	160					17																	48818534		2203	4300	6503	SO:0001583	missense	51747				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"cisplatin resistance associated overexpressed protein", "CRE-associated protein"	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.278T>G	17.37:g.48818534T>G	ENSP00000425092:p.Leu93Arg		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.540124	0.85917	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000505619;ENST00000544170;ENST00000510984	T;T;T;T;T	0.48836	1.39;1.39;1.39;0.82;0.8	5.95	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.73598	2.24	0.80722	D	1	D;P;D	0.63046	0.992;0.918;0.96	D;P;P	0.70227	0.968;0.761;0.857	T	0.70575	-0.4834	10	0.87932	D	0	-8.1058	12.5958	0.56468	0.1239:0.0:0.0:0.8761	.	17;93;93	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	R	93;93;93;93;142;17;17	ENSP00000425092:L93R;ENSP00000376919:L93R;ENSP00000240304:L93R;ENSP00000420933:L142R;ENSP00000444253:L17R	ENSP00000240304:L93R	L	+	2	0	LUC7L3	46173533	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.235000	0.72332	2.272000	0.75746	0.460000	0.39030	CTT		0.408	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		G	48818534	T	G	48818534	3	3	394	1	0	0	0	0	1	0	0	0	9086	1609	56	5	292	5	LUC7L3	17	48818534	Missense_Mutation	SNP	T	TCGA-BP-4982-01A-01D-1462-08	43550102	48818534	32376676	30	21782											
SETBP1	26040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	42531862	42531862	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr18:42531862C>A	ENST00000282030.5	+	4	2853	c.2557C>A	c.(2557-2559)Ctg>Atg	p.L853M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	853						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L799M(1)|p.L853M(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGAAATCACGCTGTCCCCTGT	0.562									Schinzel-Giedion syndrome																																							2	Substitution - Missense(2)	kidney(2)											87	59	68					18																	42531862		2203	4300	6503	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2557C>A	18.37:g.42531862C>A	ENSP00000282030:p.Leu853Met		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113307	0.37339	.	.	ENSG00000152217	ENST00000282030	D	0.90004	-2.6	6.17	3.7	0.42460	.	0.000000	0.64402	D	0.000002	D	0.89090	0.6616	N	0.19112	0.55	0.30631	N	0.757486	D	0.89917	1.0	D	0.85130	0.997	D	0.86304	0.1682	10	0.35671	T	0.21	.	13.5605	0.61786	0.0:0.8969:0.0:0.1031	.	853	Q9Y6X0	SETBP_HUMAN	M	853	ENSP00000282030:L853M	ENSP00000282030:L853M	L	+	1	2	SETBP1	40785860	0.845000	0.29573	0.850000	0.33497	0.996000	0.88848	1.695000	0.37763	0.551000	0.29008	0.655000	0.94253	CTG		0.562	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		A	42531862	C	A	42531862	3	1	394	1	0	0	0	0	1	0	0	0	14135	796	28	4	2760	4	SETBP1	18	42531862	Missense_Mutation	SNP	C	TCGA-BP-4982-01A-01D-1462-08		42531862	35545386	31	21783											
ST8SIA3	51046	broad.mit.edu;ucsc.edu	37	18	55020256	55020256	+	Splice_Site	SNP	G	G	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr18:55020256G>T	ENST00000324000.3	+	1	2213	c.179G>T	c.(178-180)cGg>cTg	p.R60L		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	60					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R60L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCGGGATTCCGGTGAGTGCGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											45	47	46					18																	55020256		2203	4300	6503	SO:0001630	splice_region_variant	51046			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.179+1G>T	18.37:g.55020256G>T			A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337878	0.81911	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.53206	0.63	4.69	4.69	0.59074	.	0.053076	0.64402	D	0.000001	T	0.45094	0.1325	L	0.58101	1.795	0.80722	D	1	B	0.31318	0.319	B	0.27262	0.078	T	0.44726	-0.9309	10	0.38643	T	0.18	-18.768	16.4126	0.83723	0.0:0.0:1.0:0.0	.	60	O43173	SIA8C_HUMAN	L	167;60	ENSP00000320431:R60L	ENSP00000320431:R60L	R	+	2	0	ST8SIA3	53171254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.798000	0.75155	2.158000	0.67659	0.591000	0.81541	CGG		0.597	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879	Missense_Mutation	T	55020256	G	T	55020256	5	4	394	1	0	0	0	0	0	0	1	0	15238	1130	39	4	181	4	ST8SIA3	18	55020256	Splice_Site	SNP	G	TCGA-BP-4982-01A-01D-1462-08	12488394	55020256	23056992	32	21784											
AZU1	566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	830861	830861	+	Missense_Mutation	SNP	G	G	A	rs145363133		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr19:830861G>A	ENST00000233997.2	+	4	535	c.514G>A	c.(514-516)Gtg>Atg	p.V172M		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	172	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)	p.V172M(1)		NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTTGTCAACGTGACTGTGAC	0.672																																																1	Substitution - Missense(1)	kidney(1)						G	MET/VAL	0,4406		0,0,2203	43	41	42		514	0.3	0	19	dbSNP_134	42	3,8597	3.0+/-9.4	0,3,4297	no	missense	AZU1	NM_001700.3	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	172/252	830861	3,13003	2203	4300	6503	SO:0001583	missense	566			X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.514G>A	19.37:g.830861G>A	ENSP00000233997:p.Val172Met		P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	37	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726736	0.30593	0.0	3.49E-4	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.90504	-2.68	1.51	0.348	0.16026	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93979	0.8072	M	0.84846	2.72	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84261	0.0483	9	0.48119	T	0.1	.	4.8025	0.13303	0.0:0.0:0.6386:0.3614	.	172	P20160	CAP7_HUMAN	M	186;172	ENSP00000233997:V172M	ENSP00000233997:V172M	V	+	1	0	AZU1	781861	0.070000	0.21116	0.001000	0.08648	0.006000	0.05464	1.046000	0.30354	0.148000	0.19059	0.561000	0.74099	GTG		0.672	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		A	830861	G	A	830861	3	1	394	1	0	0	0	0	1	0	0	0	1243	1145	40	1	528	1	AZU1	19	830861	Missense_Mutation	SNP	G	TCGA-BP-4982-01A-01D-1462-08		830861	58298122	33	21785											
ZNF283	284349	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44352476	44352476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr19:44352476G>T	ENST00000324461.7	+	7	2020	c.1723G>T	c.(1723-1725)Gaa>Taa	p.E575*	ZNF283_ENST00000588797.1_Nonsense_Mutation_p.E436*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E575*(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAAATGTAAGGAATGTGGGAA	0.418																																																1	Substitution - Nonsense(1)	kidney(1)											72	80	77					19																	44352476		2183	4291	6474	SO:0001587	stop_gained	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1723G>T	19.37:g.44352476G>T	ENSP00000327314:p.Glu575*		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Nonsense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	36	5.835000	0.97003	.	.	ENSG00000167637	ENST00000324461	.	.	.	2.53	-0.0345	0.13896	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.7684	0.18239	0.1256:0.0:0.6852:0.1892	.	.	.	.	X	575	.	ENSP00000327314:E575X	E	+	1	0	ZNF283	49044316	0.000000	0.05858	0.916000	0.36221	0.850000	0.48378	0.262000	0.18460	0.374000	0.24650	-0.251000	0.11542	GAA		0.418	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		T	44352476	G	T	44352476	4	4	394	1	0	0	0	0	0	1	0	0	17825	1175	41	4	1737	4	ZNF283	19	44352476	Nonsense_Mutation	SNP	G	TCGA-BP-4982-01A-01D-1462-08	43521615	44352476	14776507	34	21786											
FTL	2512	broad.mit.edu;hgsc.bcm.edu	37	19	49468842	49468842	+	Silent	SNP	G	G	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr19:49468842G>A	ENST00000331825.6	+	1	285	c.78G>A	c.(76-78)caG>caA	p.Q26Q	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	26	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)	p.Q26Q(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TGTACCTGCAGGCCTCCTACA	0.592																																																1	Substitution - coding silent(1)	kidney(1)											67	68	68					19																	49468842		2203	4300	6503	SO:0001819	synonymous_variant	2512			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3"	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.78G>A	19.37:g.49468842G>A			B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Silent	SNP	ENST00000331825.6	37	CCDS33070.1																																																																																				0.592	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146		A	49468842	G	A	49468842	2	1	394	1	0	0	0	0	0	0	0	1	6086	991	35	2		2	FTL	19	49468842	Silent	SNP	G	TCGA-BP-4982-01A-01D-1462-08	5116366	49468842	9660141	35	21787											
PSMF1	9491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	1144992	1144992	+	Silent	SNP	C	C	T	rs376298956		TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr20:1144992C>T	ENST00000335877.6	+	6	812	c.636C>T	c.(634-636)ccC>ccT	p.P212P	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Silent_p.P150P|PSMF1_ENST00000381898.4_Silent_p.P124P|PSMF1_ENST00000333082.3_Silent_p.P212P|PSMF1_ENST00000246015.4_Silent_p.P212P	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	212	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)	p.P212P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TTGTGGATCCCCTGAGATCTG	0.582																																																1	Substitution - coding silent(1)	kidney(1)											224	231	229					20																	1144992		2203	4300	6503	SO:0001819	synonymous_variant	9491			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.636C>T	20.37:g.1144992C>T			A0AVQ9|D3DVW3|Q9H4I1	Silent	SNP	ENST00000335877.6	37	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382197	0.24944	.	.	ENSG00000125818	ENST00000435720	T	0.69175	-0.38	5.95	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67741	-0.5592	7	0.87932	D	0	-9.9435	5.0687	0.14594	0.0:0.5131:0.2494:0.2375	.	.	.	.	S	54	ENSP00000396547:P54S	ENSP00000396547:P54S	P	+	1	0	PSMF1	1092992	0.568000	0.26635	1.000000	0.80357	0.998000	0.95712	-0.181000	0.09740	0.866000	0.35629	0.655000	0.94253	CCT		0.582	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		T	1144992	C	T	1144992	2	4	394	1	0	0	0	0	0	0	0	1	12715	610	22	2		2	PSMF1	20	1144992	Silent	SNP	C	TCGA-BP-4982-01A-01D-1462-08		1144992	61880528	36	21788											
BPI	671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	36946865	36946865	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr20:36946865C>A	ENST00000262865.4	+	6	752	c.663C>A	c.(661-663)ttC>ttA	p.F221L	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	221					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.F221L(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AACCTTATTTCCAGACTCTGC	0.502																																																1	Substitution - Missense(1)	kidney(1)											132	126	128					20																	36946865		2203	4300	6503	SO:0001583	missense	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.663C>A	20.37:g.36946865C>A	ENSP00000262865:p.Phe221Leu		B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.111|2.111	-0.403681|-0.403681	0.04832|0.04832	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000262865|ENST00000417318	T|.	0.01629|.	4.72|.	4.34|4.34	1.15|1.15	0.20763|0.20763	Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);|.	1.539860|.	0.03617|.	N|.	0.235753|.	T|T	0.07908|0.07908	0.0198|0.0198	N|N	0.00554|0.00554	-1.385|-1.385	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.37526|0.37526	-0.9702|-0.9702	10|5	0.02654|.	T|.	1|.	-5.993|-5.993	8.4718|8.4718	0.32991|0.32991	0.1665:0.5221:0.3114:0.0|0.1665:0.5221:0.3114:0.0	.|.	221|.	P17213|.	BPI_HUMAN|.	L|Y	221|47	ENSP00000262865:F221L|.	ENSP00000262865:F221L|.	F|S	+|+	3|2	2|0	BPI|BPI	36380279|36380279	0.408000|0.408000	0.25360|0.25360	0.001000|0.001000	0.08648|0.08648	0.413000|0.413000	0.31143|0.31143	0.642000|0.642000	0.24735|0.24735	0.150000|0.150000	0.19136|0.19136	0.555000|0.555000	0.69702|0.69702	TTC|TCC		0.502	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		A	36946865	C	A	36946865	3	1	394	1	0	0	0	0	1	0	0	0	1492	854	30	4	685	4	BPI	20	36946865	Missense_Mutation	SNP	C	TCGA-BP-4982-01A-01D-1462-08	35801873	36946865	26078655	37	21789											
KRTAP10-3	386682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	45978577	45978577	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4982-01A-01D-1462-08	TCGA-BP-4982-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84591a73-bed0-4ad5-9acd-8f31acf27af0	7e643798-5764-43b3-bd79-a92f2c34415b	g.chr21:45978577C>A	ENST00000391620.1	-	1	66	c.22G>T	c.(22-24)Gtc>Ttc	p.V8F	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	8						keratin filament (GO:0045095)		p.V8F(1)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						CTGGAGCAGACGGACATGGTA	0.662																																																1	Substitution - Missense(1)	kidney(1)											66	65	65					21																	45978577		2203	4300	6503	SO:0001583	missense	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.22G>T	21.37:g.45978577C>A	ENSP00000375478:p.Val8Phe		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	t	7.201	0.593557	0.13875	.	.	ENSG00000212935	ENST00000391620	T	0.12147	2.71	3.39	0.166	0.14999	.	.	.	.	.	T	0.19765	0.0475	M	0.83384	2.64	0.23677	N	0.997138	B	0.31193	0.312	B	0.30782	0.12	T	0.15752	-1.0426	9	0.72032	D	0.01	.	10.0969	0.42480	0.0:0.7943:0.0:0.2057	.	8	P60369	KR103_HUMAN	F	8	ENSP00000375478:V8F	ENSP00000375478:V8F	V	-	1	0	KRTAP10-3	44803005	0.005000	0.15991	0.630000	0.29268	0.142000	0.21351	-0.094000	0.11094	-0.033000	0.13736	-1.393000	0.01150	GTC		0.662	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			A	45978577	C	A	45978577	3	1	394	1	0	0	0	0	1	0	0	0	8512	536	19	4	647	4	KRTAP10-3	21	45978577	Missense_Mutation	SNP	C	TCGA-BP-4982-01A-01D-1462-08		45978577	2151318	38	21790											
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16256120	16256120	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:16256120G>A	ENST00000375759.3	+	11	3589	c.3385G>A	c.(3385-3387)Gtt>Att	p.V1129I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1129					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.V1129I(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGAGAAGACGTTAGGAAAAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											38	39	38					1																	16256120		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3385G>A	1.37:g.16256120G>A	ENSP00000364912:p.Val1129Ile		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	0.978	-0.698094	0.03279	.	.	ENSG00000065526	ENST00000375759	T	0.08193	3.12	5.2	3.03	0.35002	.	.	.	.	.	T	0.03263	0.0095	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	9	0.30078	T	0.28	2.9348	3.1774	0.06573	0.4964:0.2202:0.2834:0.0	.	1129	Q96T58	MINT_HUMAN	I	1129	ENSP00000364912:V1129I	ENSP00000364912:V1129I	V	+	1	0	SPEN	16128707	0.000000	0.05858	0.153000	0.22517	0.472000	0.32918	0.072000	0.14617	0.566000	0.29273	0.650000	0.86243	GTT		0.393	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		A	16256120	G	A	16256120	3	1	395	1	0	0	0	0	1	0	0	0	15043	1145	40	1	3427	1	SPEN	1	16256120	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08		16256120	232994501	1	21791											
EPHB2	2048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	23191446	23191446	+	Silent	SNP	C	C	T	rs561374198		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:23191446C>T	ENST00000400191.3	+	5	1062	c.1044C>T	c.(1042-1044)cgC>cgT	p.R348R	EPHB2_ENST00000374630.3_Silent_p.R348R|EPHB2_ENST00000374632.3_Silent_p.R348R|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.R342R|EPHB2_ENST00000544305.1_Silent_p.R348R|MIR4253_ENST00000581187.1_RNA	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	348	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.R348R(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCCTCCCCGCGACTCCGGAG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15216	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											62	69	67					1																	23191446		2203	4300	6503	SO:0001819	synonymous_variant	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1044C>T	1.37:g.23191446C>T			O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37																																																																																					0.652	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		T	23191446	C	T	23191446	2	4	395	1	0	0	0	0	0	0	0	1	5177	755	27	1		1	EPHB2	1	23191446	Silent	SNP	C	TCGA-BP-4983-01A-01D-1462-08	6935326	23191446	226059175	2	21792											
HIVEP3	59269	broad.mit.edu	37	1	41976454	41976454	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:41976454C>A	ENST00000372583.1	-	9	7774	c.6889G>T	c.(6889-6891)Ggg>Tgg	p.G2297W	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G2296W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2297W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2296W|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2297					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G2297W(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCAGGTGCCCCGGTCCCATGG	0.736																																																1	Substitution - Missense(1)	kidney(1)											13	17	16					1																	41976454		2193	4293	6486	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6889G>T	1.37:g.41976454C>A	ENSP00000361664:p.Gly2297Trp		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	2.826	-0.243748	0.05906	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06218	3.34;3.33;3.33;3.34	4.49	-2.08	0.07254	.	0.517265	0.14352	N	0.325026	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.003	T	0.37079	-0.9721	10	0.72032	D	0.01	-2.6273	5.3333	0.15944	0.0:0.3683:0.2486:0.3831	.	2296;2297	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	2296;2297;2297;2296	ENSP00000361665:G2296W;ENSP00000361664:G2297W;ENSP00000247584:G2297W;ENSP00000410828:G2296W	ENSP00000247584:G2297W	G	-	1	0	HIVEP3	41749041	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.407000	0.07178	-0.635000	0.05531	-0.258000	0.10820	GGG		0.736	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		A	41976454	C	A	41976454	3	1	395	1	0	0	0	0	1	0	0	0	7190	652	23	4	335	4	HIVEP3	1	41976454	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08	18785008	41976454	207274167	3	21793											
PTBP2	58155	broad.mit.edu;ucsc.edu	37	1	97236294	97236294	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:97236294G>C	ENST00000426398.2	+	5	362	c.319G>C	c.(319-321)Gct>Cct	p.A107P	PTBP2_ENST00000370198.1_Missense_Mutation_p.A107P|PTBP2_ENST00000609116.1_Missense_Mutation_p.A107P|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.A107P|PTBP2_ENST00000394184.3_Missense_Mutation_p.A118P|PTBP2_ENST00000541987.1_Missense_Mutation_p.A76P	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	107	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A107P(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CGAGGAAGCAGCTATTACTAT	0.308																																																1	Substitution - Missense(1)	kidney(1)											92	91	91					1																	97236294		2203	4298	6501	SO:0001583	missense	58155			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"RNA binding motif (RRM) containing"	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.319G>C	1.37:g.97236294G>C	ENSP00000412788:p.Ala107Pro		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	CCDS754.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208126	0.95033	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;D	0.91068	-0.88;-0.84;-0.85;-0.88;-0.86;-2.78	5.22	5.22	0.72569	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	H	0.95151	3.63	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.996;1.0;0.999;0.999	D;D;D;D;D;D;D	0.87578	0.995;0.998;0.996;0.991;0.991;0.991;0.997	D	0.97912	1.0309	10	0.87932	D	0	-3.4771	18.7903	0.91971	0.0:0.0:1.0:0.0	.	115;118;107;107;107;107;129	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3;Q59G43	.;.;.;PTBP2_HUMAN;.;.;.	P	107;107;107;107;118;76;97	ENSP00000236228:A107P;ENSP00000359217:A107P;ENSP00000359216:A107P;ENSP00000412788:A107P;ENSP00000377738:A118P;ENSP00000442475:A76P	ENSP00000236228:A107P	A	+	1	0	PTBP2	97008882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.750000	0.98875	2.430000	0.82344	0.655000	0.94253	GCT		0.308	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			C	97236294	G	C	97236294	3	2	395	1	0	0	0	0	1	0	0	0	12731	971	34	4	337	4	PTBP2	1	97236294	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	55259840	97236294	152014327	4	21794											
HCN3	57657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155252388	155252388	+	Silent	SNP	T	T	C	rs140564885		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:155252388T>C	ENST00000368358.3	+	2	473	c.465T>C	c.(463-465)gcT>gcC	p.A155A	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	155					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A155A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGAGGGTGCTGAGATCCTGC	0.562																																																1	Substitution - coding silent(1)	kidney(1)											110	93	98					1																	155252388		2203	4300	6503	SO:0001819	synonymous_variant	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.465T>C	1.37:g.155252388T>C			D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	CCDS1108.1																																																																																				0.562	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		C	155252388	T	C	155252388	2	2	395	1	0	0	0	0	0	0	0	1	7000	1567	55	3		3	HCN3	1	155252388	Silent	SNP	T	TCGA-BP-4983-01A-01D-1462-08	58016094	155252388	93998233	5	21795											
CADM3	57863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159170640	159170640	+	Silent	SNP	C	C	T	rs143855176		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:159170640C>T	ENST00000368125.4	+	9	1282	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.D409D|CADM3_ENST00000497636.1_3'UTR|DARC_ENST00000537147.1_5'Flank	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	375					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.D409D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ATGCTCCAGACGCGGACACGG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		11849	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						C	,	0,4406		0,0,2203	96	89	91		1125,1227	-7.6	0.9	1	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CADM3	NM_001127173.1,NM_021189.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	375/399,409/433	159170640	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57863			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1125C>T	1.37:g.159170640C>T			Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	CCDS44251.1																																																																																				0.582	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		T	159170640	C	T	159170640	2	4	395	1	0	0	0	0	0	0	0	1	2570	535	19	1		1	CADM3	1	159170640	Silent	SNP	C	TCGA-BP-4983-01A-01D-1462-08	3918252	159170640	90079981	6	21796											
C1orf129	80133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	170964596	170964596	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:170964596C>T	ENST00000367758.3	+	13	1360	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	MROH9_ENST00000367759.4_Missense_Mutation_p.P421S	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	421								p.P421S(2)									CCAGTATTTCCCCCAGCTCTT	0.473																																																2	Substitution - Missense(2)	kidney(2)											103	101	101					1																	170964596		1903	4113	6016	SO:0001583	missense	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1261C>T	1.37:g.170964596C>T	ENSP00000356732:p.Pro421Ser		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	CCDS41436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.853283|2.853283	0.51270|0.51270	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000426136|ENST00000367759;ENST00000367758	.|T;T	.|0.66638	.|-0.22;1.4	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000017|0.000017	T|T	0.76793|0.76793	0.4037|0.4037	M|M	0.69823|0.69823	2.125|2.125	0.39317|0.39317	D|D	0.965182|0.965182	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.79962|0.79962	-0.1582|-0.1582	6|10	.|0.87932	.|D	.|0	-20.3591|-20.3591	14.6158|14.6158	0.68547|0.68547	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|421;421	.|F5GWX6;Q5TGP6	.|.;CA129_HUMAN	L|S	27|421	.|ENSP00000356733:P421S;ENSP00000356732:P421S	.|ENSP00000356732:P421S	P|P	+|+	2|1	0|0	C1orf129|C1orf129	169231220|169231220	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.050000|0.050000	0.14768|0.14768	2.153000|2.153000	0.42282|0.42282	2.523000|2.523000	0.85059|0.85059	0.643000|0.643000	0.83706|0.83706	CCC|CCC		0.473	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		T	170964596	C	T	170964596	3	4	395	1	0	0	0	0	1	0	0	0	1998	623	22	2	1307	2	C1orf129	1	170964596	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08	11793956	170964596	78286025	7	21797											
CACNA1E	777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	181549889	181549889	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:181549889G>T	ENST00000367573.2	+	6	928	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	CACNA1E_ENST00000526775.1_Missense_Mutation_p.G310W|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G261W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G261W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G310W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G310W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	310					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.G310W(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACCATGGAAGGGTGGACCAC	0.527																																																2	Substitution - Missense(2)	kidney(2)											91	89	90					1																	181549889		2039	4219	6258	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.928G>T	1.37:g.181549889G>T	ENSP00000356545:p.Gly310Trp		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433646	0.83776	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99888	-7.54;-7.54;-7.54;-7.54;-7.54;-7.54;-7.54	4.81	4.81	0.61882	.	0.215037	0.48286	D	0.000198	D	0.99937	0.9972	H	0.99600	4.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95753	0.8793	10	0.87932	D	0	.	17.4621	0.87622	0.0:0.0:1.0:0.0	.	310;310	Q15878-2;Q15878-3	.;.	W	310;310;310;261;261;310;310	ENSP00000432038:G310W;ENSP00000356542:G310W;ENSP00000434814:G310W;ENSP00000350183:G261W;ENSP00000351101:G261W;ENSP00000353222:G310W;ENSP00000356545:G310W	ENSP00000350183:G261W	G	+	1	0	CACNA1E	179816512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.231000	0.72958	0.555000	0.69702	GGG		0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		T	181549889	G	T	181549889	3	4	395	1	0	0	0	0	1	0	0	0	2544	1000	35	4	950	4	CACNA1E	1	181549889	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	10585293	181549889	67700732	8	21798											
ASPM	259266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197087083	197087083	+	Silent	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:197087083A>G	ENST00000367409.4	-	17	4157	c.3901T>C	c.(3901-3903)Ttg>Ctg	p.L1301L	ASPM_ENST00000294732.7_Silent_p.L1301L|ASPM_ENST00000367408.1_Silent_p.L551L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1301					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.L1301L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTACAGCCAATTGAATAATT	0.313																																																1	Substitution - coding silent(1)	kidney(1)											99	111	107					1																	197087083		2199	4298	6497	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3901T>C	1.37:g.197087083A>G			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																				0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		G	197087083	A	G	197087083	2	3	395	1	0	0	0	0	0	0	0	1	1056	98	4	3		3	ASPM	1	197087083	Silent	SNP	A	TCGA-BP-4983-01A-01D-1462-08	15537194	197087083	52163538	9	21799											
GOLT1A	127845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204170926	204170926	+	Missense_Mutation	SNP	G	G	A	rs150924607		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:204170926G>A	ENST00000308302.3	-	3	316	c.131C>T	c.(130-132)aCg>aTg	p.T44M	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.T44M(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			GGACAGGCCCGTCAGGAACAG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18425	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											89	94	92					1																	204170926		2203	4300	6503	SO:0001583	missense	127845			BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.131C>T	1.37:g.204170926G>A	ENSP00000308535:p.Thr44Met			Missense_Mutation	SNP	ENST00000308302.3	37	CCDS1443.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.10	3.028585	0.54790	.	.	ENSG00000174567	ENST00000308302	T	0.42131	0.98	5.53	-0.356	0.12583	.	1.063270	0.07311	N	0.875775	T	0.50939	0.1645	L	0.49126	1.545	0.09310	N	1	D	0.58970	0.984	P	0.57425	0.82	T	0.48581	-0.9023	10	0.54805	T	0.06	-1.0292	9.6032	0.39617	0.1394:0.3417:0.5189:0.0	.	44	Q6ZVE7	GOT1A_HUMAN	M	44	ENSP00000308535:T44M	ENSP00000308535:T44M	T	-	2	0	GOLT1A	202437549	0.294000	0.24380	0.264000	0.24511	0.820000	0.46376	2.818000	0.48041	0.024000	0.15214	0.643000	0.83706	ACG		0.602	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		A	204170926	G	A	204170926	3	1	395	1	0	0	0	0	1	0	0	0	6572	1145	40	1	279	1	GOLT1A	1	204170926	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	7083843	204170926	45079695	10	21800											
OR2T4	127074	broad.mit.edu;hgsc.bcm.edu	37	1	248525256	248525256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:248525256C>A	ENST00000366475.1	+	1	374	c.374C>A	c.(373-375)tCa>tAa	p.S125*		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S125*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATAAGATCTCAGCCCCTGAG	0.488																																																1	Substitution - Nonsense(1)	kidney(1)											252	199	217					1																	248525256		2203	4300	6503	SO:0001587	stop_gained	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.374C>A	1.37:g.248525256C>A	ENSP00000355431:p.Ser125*		Q6IEZ8	Nonsense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773737	0.69992	.	.	ENSG00000196944	ENST00000366475	.	.	.	3.48	3.48	0.39840	.	0.000000	0.38959	N	0.001511	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6139	0.68534	0.0:1.0:0.0:0.0	.	.	.	.	X	125	.	ENSP00000355431:S125X	S	+	2	0	OR2T4	246591879	0.981000	0.34729	0.056000	0.19401	0.607000	0.37147	3.551000	0.53698	1.469000	0.48083	0.485000	0.47835	TCA		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		A	248525256	C	A	248525256	4	1	395	1	0	0	0	0	0	1	0	0	11029	838	29	4	376	4	OR2T4	1	248525256	Nonsense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08	44354330	248525256	725365	11	21801											
C2orf71	388939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29295510	29295510	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr2:29295510T>G	ENST00000331664.5	-	1	1617	c.1618A>C	c.(1618-1620)Atg>Ctg	p.M540L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	540					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.M540L(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCAGAATCATTTCCTGGGCC	0.552																																																1	Substitution - Missense(1)	kidney(1)											50	54	53					2																	29295510		1960	4140	6100	SO:0001583	missense	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1618A>C	2.37:g.29295510T>G	ENSP00000332809:p.Met540Leu			Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863203	0.71949	.	.	ENSG00000179270	ENST00000331664	T	0.28666	1.6	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	M	0.70275	2.135	0.37762	D	0.926362	P	0.40970	0.734	B	0.43478	0.421	T	0.50154	-0.8861	10	0.52906	T	0.07	-23.7948	15.0202	0.71624	0.0:0.0:0.0:1.0	.	540	A6NGG8	CB071_HUMAN	L	540	ENSP00000332809:M540L	ENSP00000332809:M540L	M	-	1	0	C2orf71	29149014	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.590000	0.61013	1.961000	0.56991	0.459000	0.35465	ATG		0.552	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		G	29295510	T	G	29295510	3	3	395	1	0	0	0	0	1	0	0	0	2193	1493	52	5	2256	5	C2orf71	2	29295510	Missense_Mutation	SNP	T	TCGA-BP-4983-01A-01D-1462-08		29295510	213903863	12	21802											
PCBP1	5093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	70315104	70315104	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr2:70315104G>T	ENST00000303577.5	+	1	520	c.229G>T	c.(229-231)Gac>Tac	p.D77Y	PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	77					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.D77Y(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TATGATCATCGACAAGCTGGA	0.597																																					Colon(85;1146 1307 3484 18706 25380)											1	Substitution - Missense(1)	kidney(1)											81	92	89					2																	70315104		2203	4300	6503	SO:0001583	missense	5093				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein E1"	601209	"poly(rC)-binding protein 1"			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.229G>T	2.37:g.70315104G>T	ENSP00000305556:p.Asp77Tyr		Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	0.493	-0.874326	0.02550	.	.	ENSG00000169564	ENST00000303577	T	0.47177	0.85	4.16	4.16	0.48862	K Homology (1);	0.060909	0.64402	U	0.000005	T	0.48786	0.1519	M	0.74467	2.265	0.50313	D	0.999865	B	0.19445	0.036	B	0.20767	0.031	T	0.48399	-0.9039	10	0.33141	T	0.24	.	14.8254	0.70107	0.0:0.0:1.0:0.0	.	77	Q15365	PCBP1_HUMAN	Y	77	ENSP00000305556:D77Y	ENSP00000305556:D77Y	D	+	1	0	PCBP1	70168608	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.629000	0.54266	2.623000	0.88846	0.585000	0.79938	GAC		0.597	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		T	70315104	G	T	70315104	3	4	395	1	0	0	0	0	1	0	0	0	11502	1058	37	4	231	4	PCBP1	2	70315104	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	41019594	70315104	172884269	13	21803											
FARP2	9855	hgsc.bcm.edu;ucsc.edu	37	2	242380935	242380935	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr2:242380935C>A	ENST00000264042.3	+	13	1545	c.1375C>A	c.(1375-1377)Cag>Aag	p.Q459K	FARP2_ENST00000545004.1_Missense_Mutation_p.Q459K|FARP2_ENST00000373287.4_Missense_Mutation_p.Q459K	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	459	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACCATCGGCCCAGCCCCTCGG	0.642																																																0													29	32	31					2																	242380935		2203	4299	6502	SO:0001583	missense	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1375C>A	2.37:g.242380935C>A	ENSP00000264042:p.Gln459Lys		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	C	5.119	0.207625	0.09704	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	T;T;T;T	0.81163	-0.86;-1.46;-1.46;-1.33	5.08	2.31	0.28768	.	5.122980	0.00166	N	0.000001	T	0.72269	0.3439	L	0.29908	0.895	0.09310	N	1	B;B;B	0.25904	0.137;0.137;0.012	B;B;B	0.25140	0.058;0.035;0.007	T	0.53788	-0.8389	10	0.20519	T	0.43	.	8.3709	0.32415	0.0:0.7564:0.0:0.2436	.	459;459;459	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	K	459;459;459;146	ENSP00000264042:Q459K;ENSP00000443876:Q459K;ENSP00000362384:Q459K;ENSP00000412772:Q146K	ENSP00000264042:Q459K	Q	+	1	0	FARP2	242029608	0.004000	0.15560	0.003000	0.11579	0.004000	0.04260	1.854000	0.39368	0.188000	0.20168	0.655000	0.94253	CAG		0.642	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			A	242380935	C	A	242380935	3	1	395	1	0	0	0	0	1	0	0	0	5679	595	21	4	1421	4	FARP2	2	242380935	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08	172065831	242380935	818438	14	21804											
PDCD6IP	10015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33905544	33905544	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:33905544C>T	ENST00000307296.3	+	16	2544	c.2167C>T	c.(2167-2169)Cct>Tct	p.P723S	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.P728S			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	723	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.P723S(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCCTTCAATTCCTACACCTGC	0.423																																																1	Substitution - Missense(1)	kidney(1)											86	82	83					3																	33905544		2203	4300	6503	SO:0001583	missense	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.2167C>T	3.37:g.33905544C>T	ENSP00000307387:p.Pro723Ser		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659998	0.47572	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.20598	2.06;2.06	5.95	5.95	0.96441	.	0.165843	0.53938	D	0.000057	T	0.17195	0.0413	L	0.28344	0.845	0.37712	D	0.924602	B;B;B	0.17667	0.023;0.007;0.007	B;B;B	0.14578	0.011;0.01;0.006	T	0.13575	-1.0504	10	0.09590	T	0.72	-14.1873	20.3802	0.98930	0.0:1.0:0.0:0.0	.	504;728;723	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	S	723;728	ENSP00000307387:P723S;ENSP00000411825:P728S	ENSP00000307387:P723S	P	+	1	0	PDCD6IP	33880548	0.997000	0.39634	0.943000	0.38184	0.980000	0.70556	4.556000	0.60775	2.822000	0.97130	0.563000	0.77884	CCT		0.423	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			T	33905544	C	T	33905544	3	4	395	1	0	0	0	0	1	0	0	0	11626	855	30	2	2244	2	PDCD6IP	3	33905544	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08		33905544	164116886	15	21805											
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47098412	47098413	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	-	-	-	AT	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:47098412_47098413insAT	ENST00000409792.3	-	15	6903_6904	c.6861_6862insAT	c.(6859-6864)tctcctfs	p.P2288fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2288	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GACTGTGCAGGAGAGTACTGCT	0.475			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6861_6862insAT	3.37:g.47098412_47098413insAT	ENSP00000386759:p.Pro2288fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	CCDS2749.2																																																																																				0.475	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		AT	47098413	-	AT	47098412	7	5	395	1	0	1	1	0	0	0	0	0	14137	1174	41	0	860	0	SETD2	3	47098412	Frame_Shift_Ins	INS	-	TCGA-BP-4983-01A-01D-1462-08	13192868	47098412	150924018	16	21806											
GNAI2	2771	broad.mit.edu;hgsc.bcm.edu	37	3	50290461	50290461	+	Silent	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:50290461C>T	ENST00000313601.6	+	4	693	c.309C>T	c.(307-309)gaC>gaT	p.D103D	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Silent_p.D87D|GNAI2_ENST00000536647.1_Silent_p.D22D|GNAI2_ENST00000422163.1_Silent_p.D87D|GNAI2_ENST00000451956.1_Silent_p.D66D|GNAI2_ENST00000440628.1_Silent_p.D51D	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	103					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.D103D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CCCAGGACGACGCCAGGCAGC	0.642																																																1	Substitution - coding silent(1)	kidney(1)											82	76	78					3																	50290461		2203	4300	6503	SO:0001819	synonymous_variant	2771			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.309C>T	3.37:g.50290461C>T			B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Silent	SNP	ENST00000313601.6	37	CCDS2813.1																																																																																				0.642	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		T	50290461	C	T	50290461	2	4	395	1	0	0	0	0	0	0	0	1	6507	535	19	1		1	GNAI2	3	50290461	Silent	SNP	C	TCGA-BP-4983-01A-01D-1462-08	3192049	50290461	147731969	17	21807											
FAM19A1	407738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	68466568	68466568	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:68466568A>G	ENST00000478136.1	+	3	747	c.257A>G	c.(256-258)gAt>gGt	p.D86G	FAM19A1_ENST00000496687.1_Missense_Mutation_p.D86G|FAM19A1_ENST00000491017.1_3'UTR	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	86						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.D86G(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TCTTGCGTCGATGGTAGGTAC	0.398																																																2	Substitution - Missense(2)	kidney(2)											151	147	148					3																	68466568		1880	4106	5986	SO:0001583	missense	407738			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.257A>G	3.37:g.68466568A>G	ENSP00000418575:p.Asp86Gly		A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.507622	0.64410	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.78456	2.415	0.52501	D	0.99995	D	0.69078	0.997	D	0.80764	0.994	T	0.82470	-0.0441	9	0.87932	D	0	.	15.9856	0.80151	1.0:0.0:0.0:0.0	.	86	Q7Z5A9	F19A1_HUMAN	G	86	.	ENSP00000418575:D86G	D	+	2	0	FAM19A1	68549258	1.000000	0.71417	0.932000	0.37286	0.005000	0.04900	9.283000	0.95860	2.230000	0.72887	0.482000	0.46254	GAT		0.398	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		G	68466568	A	G	68466568	3	3	395	1	0	0	0	0	1	0	0	0	5533	333	12	3	263	3	FAM19A1	3	68466568	Missense_Mutation	SNP	A	TCGA-BP-4983-01A-01D-1462-08	18176107	68466568	129555862	18	21808											
MCF2L2	23101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	183035915	183035915	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:183035915T>C	ENST00000328913.3	-	7	991	c.694A>G	c.(694-696)Agc>Ggc	p.S232G	MCF2L2_ENST00000473233.1_Missense_Mutation_p.S232G|MCF2L2_ENST00000447025.2_Missense_Mutation_p.S232G|MCF2L2_ENST00000414362.2_Missense_Mutation_p.S232G	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	232							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S232G(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GATAGCATGCTTCTGGGCAGC	0.582																																																1	Substitution - Missense(1)	kidney(1)											92	82	86					3																	183035915		2203	4300	6503	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.694A>G	3.37:g.183035915T>C	ENSP00000328118:p.Ser232Gly		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	T	9.166	1.020004	0.19433	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.27	2.28	0.28536	.	0.298435	0.34932	N	0.003566	T	0.23014	0.0556	N	0.14661	0.345	0.21386	N	0.999702	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.12837	0.008;0.005;0.001	T	0.15925	-1.0420	10	0.54805	T	0.06	.	6.3758	0.21507	0.1437:0.6827:0.0:0.1736	.	232;232;232	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	G	232	ENSP00000328118:S232G;ENSP00000420070:S232G;ENSP00000388190:S232G;ENSP00000414131:S232G	ENSP00000328118:S232G	S	-	1	0	MCF2L2	184518609	0.993000	0.37304	0.141000	0.22245	0.010000	0.07245	1.690000	0.37711	0.138000	0.18790	-0.242000	0.12053	AGC		0.582	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		C	183035915	T	C	183035915	3	2	395	1	0	0	0	0	1	0	0	0	9382	1609	56	3	2746	3	MCF2L2	3	183035915	Missense_Mutation	SNP	T	TCGA-BP-4983-01A-01D-1462-08	114569347	183035915	14986515	19	21809											
ABCC5	10057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	183669339	183669339	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:183669339G>A	ENST00000334444.6	-	20	3074	c.2834C>T	c.(2833-2835)tCc>tTc	p.S945F	ABCC5_ENST00000265586.6_Missense_Mutation_p.S945F	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	945	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.S945F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATGCAGCCGGGAGGAAGCTCG	0.577																																																1	Substitution - Missense(1)	kidney(1)											60	67	65					3																	183669339		2056	4215	6271	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2834C>T	3.37:g.183669339G>A	ENSP00000333926:p.Ser945Phe		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265534	0.95399	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	T;T	0.50813	0.73;0.73	5.83	5.83	0.93111	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.76002	2.32	0.80722	D	1	P;P	0.50156	0.932;0.886	P;P	0.56823	0.807;0.618	T	0.67635	-0.5620	10	0.59425	D	0.04	-22.7548	20.1252	0.97977	0.0:0.0:1.0:0.0	.	945;945	Q86UX3;O15440	.;MRP5_HUMAN	F	945	ENSP00000333926:S945F;ENSP00000265586:S945F	ENSP00000265586:S945F	S	-	2	0	ABCC5	185152033	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.741000	0.84997	2.758000	0.94735	0.591000	0.81541	TCC		0.577	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		A	183669339	G	A	183669339	3	1	395	1	0	0	0	0	1	0	0	0	56	1174	41	2	1523	2	ABCC5	3	183669339	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	633424	183669339	14353091	20	21810											
PDS5A	23244	broad.mit.edu;hgsc.bcm.edu	37	4	39851255	39851255	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr4:39851255A>G	ENST00000303538.8	-	27	3643	c.3104T>C	c.(3103-3105)cTt>cCt	p.L1035P		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.L1035P(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TAAAACTTCAAGCATGAACCA	0.358																																																1	Substitution - Missense(1)	kidney(1)											99	89	92					4																	39851255		1846	4110	5956	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3104T>C	4.37:g.39851255A>G	ENSP00000303427:p.Leu1035Pro			Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633180	0.87660	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.58	5.58	0.84498	Armadillo-like helical (1);	0.123149	0.56097	D	0.000029	T	0.78786	0.4338	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79780	-0.1659	8	.	.	.	-12.0054	15.7677	0.78141	1.0:0.0:0.0:0.0	.	1035	Q29RF7	PDS5A_HUMAN	P	1035	.	.	L	-	2	0	PDS5A	39527650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.224000	0.95209	2.112000	0.64535	0.533000	0.62120	CTT		0.358	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		G	39851255	A	G	39851255	3	3	395	1	0	0	0	0	1	0	0	0	11693	72	3	3	937	3	PDS5A	4	39851255	Missense_Mutation	SNP	A	TCGA-BP-4983-01A-01D-1462-08		39851255	151303021	21	21811											
UGT2B7	7364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	69962460	69962460	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr4:69962460T>G	ENST00000508661.1	+	1	249	c.222T>G	c.(220-222)atT>atG	p.I74M	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.I74M			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	74					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.I74M(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTCTTAAAATTGAAATTTATC	0.378																																																1	Substitution - Missense(1)	kidney(1)											62	68	66					4																	69962460		2203	4299	6502	SO:0001583	missense	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.222T>G	4.37:g.69962460T>G	ENSP00000427659:p.Ile74Met		B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		.	.	.	.	.	.	.	.	.	.	T	8.242	0.807034	0.16467	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60040	0.22;0.22	2.54	1.25	0.21368	.	0.401019	0.22584	U	0.058174	T	0.39091	0.1065	N	0.11756	0.17	0.09310	N	1	P;B	0.34629	0.46;0.008	B;B	0.42738	0.396;0.045	T	0.29150	-1.0021	9	.	.	.	.	6.7554	0.23510	0.0:0.0:0.2409:0.7591	.	74;74	E9PBP8;P16662	.;UD2B7_HUMAN	M	74	ENSP00000304811:I74M;ENSP00000427659:I74M	.	I	+	3	3	UGT2B7	69997049	0.750000	0.28316	0.008000	0.14137	0.005000	0.04900	0.849000	0.27723	0.189000	0.20188	0.260000	0.18958	ATT		0.378	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		G	69962460	T	G	69962460	3	3	395	1	0	0	0	0	1	0	0	0	16967	1800	63	5	224	5	UGT2B7	4	69962460	Missense_Mutation	SNP	T	TCGA-BP-4983-01A-01D-1462-08	30111205	69962460	121191816	22	21812											
BANK1	55024	hgsc.bcm.edu;ucsc.edu	37	4	102751231	102751231	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr4:102751231delA	ENST00000322953.4	+	2	611	c.337delA	c.(337-339)actfs	p.T113fs	BANK1_ENST00000428908.1_Intron|BANK1_ENST00000504592.1_Frame_Shift_Del_p.T98fs|BANK1_ENST00000444316.2_Frame_Shift_Del_p.T83fs|BANK1_ENST00000508653.1_Intron	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	113	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAGTGTAGTTACTTTGCTTTG	0.358																																																0													73	76	75					4																	102751231		2203	4300	6503	SO:0001589	frameshift_variant	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.337delA	4.37:g.102751231delA	ENSP00000320509:p.Thr113fs		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Frame_Shift_Del	DEL	ENST00000322953.4	37	CCDS34038.1																																																																																				0.358	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		-	102751231	A	-	102751231	7	5	395	1	0	1	0	1	0	0	0	0	1309	391	14	0	343	0	BANK1	4	102751231	Frame_Shift_Del	DEL	A	TCGA-BP-4983-01A-01D-1462-08	32788771	102751231	88403045	23	21813											
TTC29	83894	broad.mit.edu;hgsc.bcm.edu	37	4	147830304	147830304	+	Missense_Mutation	SNP	C	C	T	rs372436413		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr4:147830304C>T	ENST00000325106.4	-	5	500	c.274G>A	c.(274-276)Gat>Aat	p.D92N	TTC29_ENST00000513335.1_Missense_Mutation_p.D118N|TTC29_ENST00000398886.4_Missense_Mutation_p.D118N	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	92								p.D92N(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTCAGGGCATCCCACCGCTCC	0.527																																																2	Substitution - Missense(2)	kidney(1)|skin(1)						C	ASN/ASP	1,3849		0,1,1924	66	67	67		274	3.4	1	4		67	0,8272		0,0,4136	no	missense	TTC29	NM_031956.2	23	0,1,6060	TT,TC,CC		0.0,0.026,0.0082	benign	92/476	147830304	1,12121	1925	4136	6061	SO:0001583	missense	83894			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.274G>A	4.37:g.147830304C>T	ENSP00000316740:p.Asp92Asn		A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815959	0.32145	2.6E-4	0.0	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.23	3.39	0.38822	.	0.690269	0.14722	N	0.302249	T	0.08358	0.0208	N	0.17082	0.46	0.37016	D	0.895967	B;B;B	0.19583	0.013;0.037;0.013	B;B;B	0.18561	0.007;0.022;0.007	T	0.23332	-1.0191	10	0.12430	T	0.62	-6.6917	5.6533	0.17629	0.0:0.642:0.2019:0.1561	.	92;118;92	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	N	118;118;92;92;92	ENSP00000423505:D118N;ENSP00000381861:D118N;ENSP00000316740:D92N;ENSP00000425778:D92N	ENSP00000316740:D92N	D	-	1	0	TTC29	148049754	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	1.661000	0.37408	2.596000	0.87737	0.655000	0.94253	GAT		0.527	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		T	147830304	C	T	147830304	3	4	395	1	0	0	0	0	1	0	0	0	16701	855	30	2	1189	2	TTC29	4	147830304	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08	45079073	147830304	43323972	24	21814											
MUT	4594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	49419319	49419319	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr6:49419319T>C	ENST00000274813.3	-	6	1319	c.1192A>G	c.(1192-1194)Act>Gct	p.T398A		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	398					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.T398A(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTTTCACAGTTGGCAAACCC	0.423																																																1	Substitution - Missense(1)	kidney(1)											134	117	123					6																	49419319		2203	4300	6503	SO:0001583	missense	4594				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1192A>G	6.37:g.49419319T>C	ENSP00000274813:p.Thr398Ala		A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776589	0.90195	.	.	ENSG00000146085	ENST00000274813	D	0.98400	-4.91	5.49	5.49	0.81192	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.96547	3.84	0.80722	D	1	D	0.63880	0.993	D	0.73380	0.98	D	0.98891	1.0773	10	0.87932	D	0	-11.3919	14.7668	0.69646	0.0:0.0:0.0:1.0	.	398	P22033	MUTA_HUMAN	A	398	ENSP00000274813:T398A	ENSP00000274813:T398A	T	-	1	0	MUT	49527278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.078000	0.62432	0.383000	0.25322	ACT		0.423	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			C	49419319	T	C	49419319	3	2	395	1	0	0	0	0	1	0	0	0	9993	1725	60	3	1092	3	MUT	6	49419319	Missense_Mutation	SNP	T	TCGA-BP-4983-01A-01D-1462-08		49419319	121695748	25	21815											
PRDM13	59336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	100062550	100062550	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr6:100062550A>G	ENST00000369215.4	+	4	2344	c.2039A>G	c.(2038-2040)aAg>aGg	p.K680R		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	680					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.K680R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGGGATCCCAAGAGCGACGAC	0.687																																																1	Substitution - Missense(1)	kidney(1)											24	28	27					6																	100062550		1766	3868	5634	SO:0001583	missense	59336			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.2039A>G	6.37:g.100062550A>G	ENSP00000358217:p.Lys680Arg		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600258	0.87055	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.06608	3.28;3.29	5.8	5.8	0.92144	.	0.000000	0.43747	D	0.000536	T	0.07234	0.0183	L	0.32530	0.975	0.48452	D	0.999654	D	0.76494	0.999	D	0.80764	0.994	T	0.38222	-0.9671	10	0.08179	T	0.78	-20.1023	16.1461	0.81569	1.0:0.0:0.0:0.0	.	680	Q9H4Q3	PRD13_HUMAN	R	680;690	ENSP00000358217:K680R;ENSP00000358216:K690R	ENSP00000358216:K690R	K	+	2	0	PRDM13	100169271	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.742000	0.74843	2.219000	0.72066	0.533000	0.62120	AAG		0.687	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			G	100062550	A	G	100062550	3	3	395	1	0	0	0	0	1	0	0	0	12459	72	3	3	2053	3	PRDM13	6	100062550	Missense_Mutation	SNP	A	TCGA-BP-4983-01A-01D-1462-08	50643231	100062550	71052517	26	21816											
SDK1	221935	broad.mit.edu;hgsc.bcm.edu	37	7	4011189	4011189	+	Silent	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:4011189G>T	ENST00000404826.2	+	12	1945	c.1806G>T	c.(1804-1806)cgG>cgT	p.R602R	SDK1_ENST00000389531.3_Silent_p.R602R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	602	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R602R(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATGACCCCCGGGTTTCACTCC	0.527																																																1	Substitution - coding silent(1)	kidney(1)											70	58	62					7																	4011189		2203	4300	6503	SO:0001819	synonymous_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1806G>T	7.37:g.4011189G>T			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																				0.527	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4011189	G	T	4011189	2	4	395	1	0	0	0	0	0	0	0	1	13974	1219	43	4		4	SDK1	7	4011189	Silent	SNP	G	TCGA-BP-4983-01A-01D-1462-08		4011189	155127474	27	21817											
HDAC9	9734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	18625053	18625053	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:18625053C>A	ENST00000432645.2	+	2	172	c.172C>A	c.(172-174)Caa>Aaa	p.Q58K	HDAC9_ENST00000524023.1_Missense_Mutation_p.Q27K|HDAC9_ENST00000417496.2_Missense_Mutation_p.Q100K|HDAC9_ENST00000406072.1_Missense_Mutation_p.Q86K|HDAC9_ENST00000456174.2_Missense_Mutation_p.Q27K|HDAC9_ENST00000441542.2_Missense_Mutation_p.Q58K|HDAC9_ENST00000405010.3_Missense_Mutation_p.Q58K|HDAC9_ENST00000406451.4_Missense_Mutation_p.Q58K|HDAC9_ENST00000401921.1_Missense_Mutation_p.Q58K|HDAC9_ENST00000428307.2_Missense_Mutation_p.Q58K|HDAC9_ENST00000476135.1_3'UTR	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	58					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q58K(3)|p.Q100K(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCAGCAGCAACAAATCCAGAA	0.493																																																4	Substitution - Missense(4)	kidney(4)											62	64	63					7																	18625053		2003	4189	6192	SO:0001583	missense	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.172C>A	7.37:g.18625053C>A	ENSP00000410337:p.Gln58Lys		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310622	0.81358	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.62364	0.53;0.73;0.72;0.57;0.06;0.6;0.55;0.03;0.06;0.07;0.74;0.55;0.61	5.71	5.71	0.89125	Histone deacetylase, glutamine rich N-terminal domain (1);	0.108661	0.41194	D	0.000924	T	0.75671	0.3881	M	0.71206	2.165	0.80722	D	1	P;B;B;P;P;B;P;B;B;B;B;B;P	0.46578	0.503;0.021;0.447;0.88;0.503;0.071;0.59;0.447;0.165;0.052;0.447;0.449;0.503	B;B;B;P;B;B;B;B;B;B;B;B;B	0.54210	0.21;0.038;0.202;0.745;0.305;0.062;0.264;0.202;0.13;0.055;0.264;0.185;0.305	T	0.77424	-0.2593	10	0.87932	D	0	-15.0552	19.8505	0.96738	0.0:1.0:0.0:0.0	.	27;27;58;86;100;58;58;58;58;27;58;58;77	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	K	100;103;58;58;27;58;58;58;86;58;58;58;27;27;27;58	ENSP00000401669:Q100K;ENSP00000412497:Q58K;ENSP00000392564:Q58K;ENSP00000384382:Q58K;ENSP00000384657:Q58K;ENSP00000395655:Q58K;ENSP00000384017:Q86K;ENSP00000383912:Q58K;ENSP00000410337:Q58K;ENSP00000408617:Q58K;ENSP00000404763:Q27K;ENSP00000388568:Q27K;ENSP00000430036:Q27K	ENSP00000262069:Q103K	Q	+	1	0	HDAC9	18591578	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.688000	0.91661	0.655000	0.94253	CAA		0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			A	18625053	C	A	18625053	3	1	395	1	0	0	0	0	1	0	0	0	7016	479	17	4	178	4	HDAC9	7	18625053	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08	14613864	18625053	140513610	28	21818											
AMPH	273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	38530710	38530710	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:38530710T>A	ENST00000356264.2	-	5	551	c.336A>T	c.(334-336)aaA>aaT	p.K112N	AMPH_ENST00000428293.2_Missense_Mutation_p.K112N|AMPH_ENST00000325590.5_Missense_Mutation_p.K112N	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	112	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.K112N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CATCCACGAGTTTTTGATGGA	0.393																																																1	Substitution - Missense(1)	kidney(1)											157	154	155					7																	38530710		2203	4300	6503	SO:0001583	missense	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.336A>T	7.37:g.38530710T>A	ENSP00000348602:p.Lys112Asn		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.634658	0.67130	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.63255	-0.03;-0.03;-0.03	5.36	1.13	0.20643	BAR (3);	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.82923	2.615	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.74444	-0.3663	10	0.72032	D	0.01	-26.9253	7.9097	0.29782	0.0:0.498:0.0:0.502	.	112;112	P49418-2;P49418	.;AMPH_HUMAN	N	112	ENSP00000317441:K112N;ENSP00000348602:K112N;ENSP00000390734:K112N	ENSP00000317441:K112N	K	-	3	2	AMPH	38497235	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.663000	0.25053	0.220000	0.20860	0.377000	0.23210	AAA		0.393	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		A	38530710	T	A	38530710	3	1	395	1	0	0	0	0	1	0	0	0	588	1722	60	5	1819	5	AMPH	7	38530710	Missense_Mutation	SNP	T	TCGA-BP-4983-01A-01D-1462-08	19905657	38530710	120607953	29	21819											
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48314761	48314761	+	Missense_Mutation	SNP	G	G	A	rs374948280		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:48314761G>A	ENST00000435803.1	+	17	5522	c.5498G>A	c.(5497-5499)cGg>cAg	p.R1833Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1833					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1778Q(1)|p.R1833Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTGGATTTCGGCAGAATTCA	0.413																																																2	Substitution - Missense(2)	kidney(2)						G	GLN/ARG	1,3709		0,1,1854	52	50	51		5498	-2.7	0	7		51	1,8207		0,1,4103	no	missense	ABCA13	NM_152701.3	43	0,2,5957	AA,AG,GG		0.0122,0.027,0.0168	benign	1833/5059	48314761	2,11916	1855	4104	5959	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5498G>A	7.37:g.48314761G>A	ENSP00000411096:p.Arg1833Gln		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.463184	0.01062	2.7E-4	1.22E-4	ENSG00000179869	ENST00000435803	T	0.13307	2.6	5.9	-2.72	0.05968	.	0.727306	0.11901	N	0.518600	T	0.02267	0.0070	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44605	-0.9317	9	.	.	.	.	5.8619	0.18752	0.5465:0.0:0.3366:0.1169	.	1833	Q86UQ4	ABCAD_HUMAN	Q	1833	ENSP00000411096:R1833Q	.	R	+	2	0	ABCA13	48285307	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.216000	0.09266	-0.735000	0.04837	-0.295000	0.09555	CGG		0.413	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48314761	G	A	48314761	3	1	395	1	0	0	0	0	1	0	0	0	31	1116	39	1	5393	1	ABCA13	7	48314761	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	9784051	48314761	110823902	30	21820											
MOSPD3	64598	broad.mit.edu;hgsc.bcm.edu	37	7	100211116	100211116	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:100211116G>A	ENST00000393950.2	+	3	580	c.298G>A	c.(298-300)Gca>Aca	p.A100T	MOSPD3_ENST00000379527.2_Missense_Mutation_p.A100T|MOSPD3_ENST00000223054.4_Missense_Mutation_p.A100T|MOSPD3_ENST00000424091.2_Intron	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	100	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.A100T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCGCCATGTGGCACCCATTCC	0.572																																																1	Substitution - Missense(1)	kidney(1)											66	65	65					7																	100211116		2203	4300	6503	SO:0001583	missense	64598			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.298G>A	7.37:g.100211116G>A	ENSP00000377522:p.Ala100Thr		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183662	0.78677	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000393953	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	3.99	3.99	0.46301	PapD-like (2);	0.110120	0.38111	N	0.001814	T	0.69052	0.3068	L	0.39898	1.24	0.40698	D	0.982453	D	0.65815	0.995	D	0.66602	0.945	T	0.70274	-0.4917	10	0.46703	T	0.11	-18.1938	14.404	0.67068	0.0:0.0:1.0:0.0	.	100	O75425	MSPD3_HUMAN	T	100;100;100;100;86	ENSP00000223054:A100T;ENSP00000417276:A100T;ENSP00000368842:A100T;ENSP00000377522:A100T	ENSP00000223054:A100T	A	+	1	0	MOSPD3	100049052	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.064000	0.57506	2.526000	0.85167	0.462000	0.41574	GCA		0.572	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		A	100211116	G	A	100211116	3	1	395	1	0	0	0	0	1	0	0	0	9719	1203	42	2	308	2	MOSPD3	7	100211116	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	51896355	100211116	58927547	31	21821											
MUC17	140453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100681776	100681776	+	Missense_Mutation	SNP	C	C	A	rs143338962		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:100681776C>A	ENST00000306151.4	+	3	7143	c.7079C>A	c.(7078-7080)aCa>aAa	p.T2360K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2360	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T2360K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACTTTCTACAACTCCTGCT	0.463																																																1	Substitution - Missense(1)	kidney(1)											228	227	227					7																	100681776		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7079C>A	7.37:g.100681776C>A	ENSP00000302716:p.Thr2360Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.055	0.007906	0.07866	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	1.39	0.379	0.16213	.	.	.	.	.	T	0.02119	0.0066	L	0.32530	0.975	0.09310	N	1	P	0.47604	0.898	B	0.37346	0.247	T	0.49204	-0.8964	9	0.33141	T	0.24	.	5.4776	0.16704	0.0:0.7869:0.0:0.2131	.	2360	Q685J3	MUC17_HUMAN	K	2360	ENSP00000302716:T2360K	ENSP00000302716:T2360K	T	+	2	0	MUC17	100468496	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.052000	0.11865	-0.076000	0.12775	0.134000	0.15878	ACA		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100681776	C	A	100681776	3	1	395	1	0	0	0	0	1	0	0	0	9976	478	17	4	7089	4	MUC17	7	100681776	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08	470660	100681776	58456887	32	21822											
SND1	27044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127341301	127341301	+	Silent	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:127341301T>C	ENST00000354725.3	+	5	707	c.513T>C	c.(511-513)caT>caC	p.H171H		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	171					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.H171H(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ACGGTTCACATACTATCCGGG	0.483																																																1	Substitution - coding silent(1)	kidney(1)											157	140	145					7																	127341301		2203	4300	6503	SO:0001819	synonymous_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.513T>C	7.37:g.127341301T>C			Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	CCDS34747.1																																																																																				0.483	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		C	127341301	T	C	127341301	2	2	395	1	0	0	0	0	0	0	0	1	14850	1403	49	3		3	SND1	7	127341301	Silent	SNP	T	TCGA-BP-4983-01A-01D-1462-08	26659525	127341301	31797362	33	21823											
RBM33	155435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	155537939	155537939	+	Silent	SNP	T	T	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:155537939T>G	ENST00000401878.3	+	14	2820	c.2622T>G	c.(2620-2622)ctT>ctG	p.L874L	RBM33_ENST00000341148.3_5'Flank	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	874							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L874L(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGAACAGACTTCTTGTTAAAA	0.463																																																2	Substitution - coding silent(2)	kidney(2)											55	48	50					7																	155537939		2203	4300	6503	SO:0001819	synonymous_variant	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2622T>G	7.37:g.155537939T>G			A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	T	7.540	0.660408	0.14645	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.33	0.245	0.15512	.	.	.	.	.	T	0.53110	0.1776	.	.	.	0.46317	D	0.998989	.	.	.	.	.	.	T	0.40040	-0.9584	4	.	.	.	.	6.6322	0.22863	0.0:0.2747:0.3623:0.363	.	.	.	.	C	646	.	.	F	+	2	0	RBM33	155230700	0.915000	0.31059	0.997000	0.53966	0.988000	0.76386	-0.110000	0.10824	-0.187000	0.10516	0.533000	0.62120	TTC		0.463	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		G	155537939	T	G	155537939	2	3	395	1	0	0	0	0	0	0	0	1	13136	1770	62	5		5	RBM33	7	155537939	Silent	SNP	T	TCGA-BP-4983-01A-01D-1462-08	28196638	155537939	3600724	34	21824											
IL33	90865	hgsc.bcm.edu	37	9	6256088	6256088	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr9:6256088A>T	ENST00000381434.3	+	7	746	c.733A>T	c.(733-735)Aat>Tat	p.N245Y	IL33_ENST00000456383.2_Missense_Mutation_p.N203Y|IL33_ENST00000417746.2_Missense_Mutation_p.N119Y	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	245					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TGTAAAGGATAATCATCTTGC	0.383																																																0													146	143	144					9																	6256088		2203	4300	6503	SO:0001583	missense	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.733A>T	9.37:g.6256088A>T	ENSP00000370842:p.Asn245Tyr		B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381102	0.42207	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	T;T;T	0.58210	0.35;0.35;0.35	5.25	5.25	0.73442	.	0.116188	0.39341	N	0.001393	T	0.58736	0.2143	L	0.27053	0.805	0.37973	D	0.933335	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.989;0.993;0.993	T	0.65936	-0.6047	10	0.87932	D	0	-31.4594	11.7185	0.51668	1.0:0.0:0.0:0.0	.	119;203;245	B4DJ35;B4E1Q9;O95760	.;.;IL33_HUMAN	Y	119;203;245	ENSP00000394039:N119Y;ENSP00000414238:N203Y;ENSP00000370842:N245Y	ENSP00000370842:N245Y	N	+	1	0	IL33	6246088	0.478000	0.25917	0.247000	0.24249	0.251000	0.25915	2.451000	0.44952	2.326000	0.78906	0.533000	0.62120	AAT		0.383	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		T	6256088	A	T	6256088	3	4	395	1	0	0	0	0	1	0	0	0	7695	362	13	5	759	5	IL33	9	6256088	Missense_Mutation	SNP	A	TCGA-BP-4983-01A-01D-1462-08		6256088	134957343	35	21825											
C9orf93	203238	hgsc.bcm.edu	37	9	15744426	15744427	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr9:15744426_15744427insG	ENST00000380701.3	+	17	2533_2534	c.2205_2206insG	c.(2206-2208)ggtfs	p.G736fs	CCDC171_ENST00000297641.3_Frame_Shift_Ins_p.G736fs	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	736																	CATTAATGGCTGGTGCCTTATA	0.446																																																0																																										SO:0001589	frameshift_variant	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2207dupG	9.37:g.15744428_15744428dupG	ENSP00000370077:p.Gly736fs		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Frame_Shift_Ins	INS	ENST00000380701.3	37	CCDS6481.1																																																																																				0.446	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		G	15744427	-	G	15744426	7	5	395	1	0	1	1	0	0	0	0	0	2508	1567	55	0	2267	0	C9orf93	9	15744426	Frame_Shift_Ins	INS	-	TCGA-BP-4983-01A-01D-1462-08	9488338	15744426	125469005	36	21826											
KIF12	113220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116859632	116859632	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr9:116859632G>C	ENST00000374118.3	-	4	418	c.181C>G	c.(181-183)Cgg>Ggg	p.R61G	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	194	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R61G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCACCACCCGCAGCTGCTCC	0.622																																																1	Substitution - Missense(1)	kidney(1)											36	39	38					9																	116859632		2203	4300	6503	SO:0001583	missense	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.181C>G	9.37:g.116859632G>C	ENSP00000363232:p.Arg61Gly		Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023002	0.35701	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.75367	-0.93	5.44	4.47	0.54385	Kinesin, motor domain (4);	0.541938	0.17542	N	0.170484	T	0.67702	0.2921	L	0.38953	1.18	0.33760	D	0.621694	P	0.35139	0.486	B	0.40477	0.33	T	0.76854	-0.2805	10	0.66056	D	0.02	.	9.7522	0.40483	0.0:0.0:0.7429:0.2571	.	194	Q96FN5	KIF12_HUMAN	G	61;194	ENSP00000363232:R61G	ENSP00000259410:R194G	R	-	1	2	KIF12	115899453	0.188000	0.23250	0.999000	0.59377	0.410000	0.31052	2.192000	0.42649	2.533000	0.85409	0.555000	0.69702	CGG		0.622	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		C	116859632	G	C	116859632	3	2	395	1	0	0	0	0	1	0	0	0	8275	1086	38	4	1412	4	KIF12	9	116859632	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	101115206	116859632	24353799	37	21827											
RABGAP1	23637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125760994	125760994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr9:125760994G>A	ENST00000373647.4	+	10	1457	c.1323G>A	c.(1321-1323)tgG>tgA	p.W441*		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	441					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.W369*(1)|p.W441*(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GATTATTCTGGCCCTTCAGCA	0.373																																																2	Substitution - Nonsense(2)	kidney(2)											94	97	96					9																	125760994		2203	4300	6503	SO:0001587	stop_gained	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1323G>A	9.37:g.125760994G>A	ENSP00000362751:p.Trp441*		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Nonsense_Mutation	SNP	ENST00000373647.4	37	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	38	6.953348	0.97960	.	.	ENSG00000011454	ENST00000373647	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0202	17.5349	0.87827	0.0:0.0:1.0:0.0	.	.	.	.	X	441	.	ENSP00000362751:W441X	W	+	3	0	RABGAP1	124800815	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.202000	0.95026	2.349000	0.79799	0.655000	0.94253	TGG		0.373	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		A	125760994	G	A	125760994	4	1	395	1	0	0	0	0	0	1	0	0	12970	1212	42	2	1357	2	RABGAP1	9	125760994	Nonsense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	8901362	125760994	15452437	38	21828											
ACBD5	91452	broad.mit.edu	37	10	27529390	27529390	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr10:27529390G>A	ENST00000375888.1	-	1	97	c.33C>T	c.(31-33)agC>agT	p.S11S	ACBD5_ENST00000375905.4_5'UTR|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000396271.3_Silent_p.S13S|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000476758.1_5'UTR|RP11-85G18.6_ENST00000574842.1_lincRNA			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	11					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.S13S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGCAGCACCAGCTTTCCCAAG	0.627																																																1	Substitution - coding silent(1)	kidney(1)											54	57	56					10																	27529390		692	1591	2283	SO:0001819	synonymous_variant	91452			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.33C>T	10.37:g.27529390G>A			B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Silent	SNP	ENST00000375888.1	37																																																																																					0.627	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		A	27529390	G	A	27529390	2	1	395	1	0	0	0	0	0	0	0	1	125	962	34	2		2	ACBD5	10	27529390	Silent	SNP	G	TCGA-BP-4983-01A-01D-1462-08		27529390	108005357	39	21829											
RTKN2	219790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	63958099	63958099	+	Silent	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr10:63958099T>C	ENST00000373789.3	-	12	1494	c.1398A>G	c.(1396-1398)ttA>ttG	p.L466L	RTKN2_ENST00000315289.2_Silent_p.L268L|RTKN2_ENST00000395265.1_Silent_p.L487L	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	466					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.L466L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAGGAGGTGGTAAGGATTCTT	0.383																																																1	Substitution - coding silent(1)	kidney(1)											116	116	116					10																	63958099		2203	4300	6503	SO:0001819	synonymous_variant	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1398A>G	10.37:g.63958099T>C			Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																				0.383	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		C	63958099	T	C	63958099	2	2	395	1	0	0	0	0	0	0	0	1	13729	1635	57	3		3	RTKN2	10	63958099	Silent	SNP	T	TCGA-BP-4983-01A-01D-1462-08	36428709	63958099	71576648	40	21830											
LTBP3	4054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65318874	65318874	+	Splice_Site	SNP	G	G	A	rs200693646		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr11:65318874G>A	ENST00000301873.5	-	10	1888	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	LTBP3_ENST00000532932.1_5'Flank|LTBP3_ENST00000536982.1_Splice_Site_p.P166P|LTBP3_ENST00000322147.4_Splice_Site_p.P540P	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	540					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)	p.P540P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CCAGCTCACCGGGGTAGGGCC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											44	39	41					11																	65318874		2201	4297	6498	SO:0001630	splice_region_variant	4054			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1621+1C>T	11.37:g.65318874G>A			O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.579473	0.00879	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.56	-9.12	0.00707	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0425	0.01562	0.3569:0.2055:0.0933:0.3443	.	.	.	.	X	191	.	.	R	-	1	2	LTBP3	65075450	0.000000	0.05858	0.032000	0.17829	0.303000	0.27691	-5.036000	0.00158	-5.529000	0.00013	-3.566000	0.00030	CGA		0.627	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070	Silent	A	65318874	G	A	65318874	5	1	395	1	0	0	0	0	0	0	1	0	9077	1130	39	1	2367	1	LTBP3	11	65318874	Splice_Site	SNP	G	TCGA-BP-4983-01A-01D-1462-08		65318874	69687642	41	21831											
XRRA1	254225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	74555233	74555233	+	IGR	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr11:74555233A>G	ENST00000299563.4	+	0	7823				XRRA1_ENST00000527087.1_Missense_Mutation_p.Y580H|RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.Y392H|XRRA1_ENST00000340360.6_Missense_Mutation_p.Y667H	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)	p.Y667H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TTGTGAACATAGGGTTTCTGA	0.512																																																1	Substitution - Missense(1)	kidney(1)											275	275	275					11																	74555233		1985	4174	6159	SO:0001628	intergenic_variant	143570			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74555233A>G			Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.315944	0.40996	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.66815	0.15;0.9;-0.23	5.0	3.88	0.44766	.	0.496883	0.20221	N	0.096685	T	0.78489	0.4291	M	0.74881	2.28	0.09310	N	1	D;D;D;D;D;D;D	0.89917	0.994;1.0;1.0;0.994;0.999;0.999;0.999	P;D;D;D;D;D;D	0.74674	0.832;0.984;0.97;0.933;0.919;0.919;0.948	T	0.68284	-0.5449	10	0.87932	D	0	-3.2182	8.8575	0.35236	0.911:0.0:0.089:0.0	.	667;269;223;580;611;277;653	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	H	667;392;653;611;580	ENSP00000339918:Y667H;ENSP00000319303:Y392H;ENSP00000435838:Y580H	ENSP00000319303:Y392H	Y	-	1	0	XRRA1	74232881	0.849000	0.29639	0.054000	0.19295	0.279000	0.26890	3.762000	0.55250	1.050000	0.40346	0.402000	0.26972	TAT		0.512	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		G	74555233	A	G	74555233	1	3	395	0	1	0	0	0	0	0	0	0	17466	420	15	3		3	XRRA1	11	74555233	IGR	SNP	A	TCGA-BP-4983-01A-01D-1462-08	9236359	74555233	60451283	42	21832											
CACNA1C	775	broad.mit.edu	37	12	2800179	2800179	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr12:2800179G>A	ENST00000347598.4	+	49	6375	c.6375G>A	c.(6373-6375)gcG>gcA	p.A2125A	CACNA1C_ENST00000406454.3_Silent_p.A2148A|CACNA1C_ENST00000399629.1_Silent_p.A2094A|CACNA1C_ENST00000399606.1_Silent_p.A2097A|CACNA1C_ENST00000335762.5_Silent_p.A2102A|CACNA1C_ENST00000399634.1_Silent_p.A2148A|CACNA1C_ENST00000399591.1_Silent_p.A2085A|CACNA1C_ENST00000399601.1_Silent_p.A2077A|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000344100.3_Silent_p.A2118A|CACNA1C_ENST00000399655.1_Silent_p.A2077A|CACNA1C_ENST00000399603.1_Silent_p.A2077A|CACNA1C_ENST00000327702.7_Silent_p.A2112A|CACNA1C_ENST00000399641.1_Silent_p.A2077A|CACNA1C_ENST00000399644.1_Silent_p.A2077A|CACNA1C_ENST00000402845.3_Silent_p.A2096A|CACNA1C_ENST00000399621.1_Silent_p.A2096A|CACNA1C_ENST00000399597.1_Silent_p.A2077A|CACNA1C_ENST00000399649.1_Silent_p.A2083A|CACNA1C_ENST00000399637.1_Silent_p.A2096A|CACNA1C_ENST00000399595.1_Silent_p.A2085A|CACNA1C_ENST00000399638.1_Silent_p.A2105A|CACNA1C_ENST00000399617.1_Silent_p.A2112A	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2160					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A2190A(1)|p.A2118A(1)|p.A2112A(1)|p.A1612A(1)|p.A2125A(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGAGAGCGCGGCCGACAACA	0.652																																																5	Substitution - coding silent(5)	kidney(5)											12	15	14					12																	2800179		1983	4139	6122	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6375G>A	12.37:g.2800179G>A			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																				0.652	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2800179	G	A	2800179	2	1	395	1	0	0	0	0	0	0	0	1	2542	1103	39	1		1	CACNA1C	12	2800179	Silent	SNP	G	TCGA-BP-4983-01A-01D-1462-08		2800179	131051716	43	21833											
MLF2	8079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6859423	6859423	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr12:6859423C>T	ENST00000203630.5	-	6	963	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	MLF2_ENST00000542154.1_Missense_Mutation_p.V107I|MLF2_ENST00000435120.1_Missense_Mutation_p.V107I|MLF2_ENST00000539187.1_Missense_Mutation_p.V107I|MLF2_ENST00000564181.1_5'Flank			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	107					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V107I(1)		kidney(2)|large_intestine(3)|lung(4)	9						TAGGAGATGACAGTGGAAGAT	0.587																																																1	Substitution - Missense(1)	kidney(1)											157	154	155					12																	6859423		2203	4300	6503	SO:0001583	missense	8079			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.319G>A	12.37:g.6859423C>T	ENSP00000203630:p.Val107Ile			Missense_Mutation	SNP	ENST00000203630.5	37	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659926	0.96734	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187;ENST00000537126;ENST00000540710	.	.	.	5.57	5.57	0.84162	.	0.055338	0.64402	D	0.000001	T	0.61974	0.2390	L	0.55743	1.74	0.80722	D	1	P	0.46784	0.884	P	0.46110	0.504	T	0.62756	-0.6787	9	0.46703	T	0.11	-23.8357	19.5428	0.95281	0.0:1.0:0.0:0.0	.	107	Q15773	MLF2_HUMAN	I	107	.	ENSP00000203630:V107I	V	-	1	0	MLF2	6729684	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	7.346000	0.79347	2.610000	0.88304	0.561000	0.74099	GTC		0.587	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			T	6859423	C	T	6859423	3	4	395	1	0	0	0	0	1	0	0	0	9618	478	17	2	439	2	MLF2	12	6859423	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08	4059244	6859423	126992472	44	21834											
LRP1	4035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57600464	57600464	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr12:57600464G>A	ENST00000243077.3	+	76	12265	c.11799G>A	c.(11797-11799)gcG>gcA	p.A3933A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3933					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.A3933A(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCTGCTGCGCCTCCTACCA	0.612																																																1	Substitution - coding silent(1)	kidney(1)											110	73	86					12																	57600464		2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11799G>A	12.37:g.57600464G>A			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57600464	G	A	57600464	2	1	395	1	0	0	0	0	0	0	0	1	8953	1074	38	1		1	LRP1	12	57600464	Silent	SNP	G	TCGA-BP-4983-01A-01D-1462-08	50741041	57600464	76251431	45	21835											
LRRIQ1	84125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	85450294	85450294	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr12:85450294A>C	ENST00000393217.2	+	8	1784	c.1723A>C	c.(1723-1725)Atc>Ctc	p.I575L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	575								p.I575L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCAGAAAATAATCAAAGATAA	0.289																																																2	Substitution - Missense(2)	kidney(2)											35	38	37					12																	85450294		2195	4269	6464	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1723A>C	12.37:g.85450294A>C	ENSP00000376910:p.Ile575Leu		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	8.960	0.970225	0.18659	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.57436	0.4	5.02	-0.474	0.12108	.	0.573284	0.15133	N	0.278716	T	0.29684	0.0741	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.10753	-1.0616	10	0.37606	T	0.19	.	2.069	0.03609	0.4208:0.259:0.0705:0.2497	.	575;550	Q96JM4;C9JI57	LRIQ1_HUMAN;.	L	575;550;575	ENSP00000376910:I575L	ENSP00000256007:I575L	I	+	1	0	LRRIQ1	83974425	0.001000	0.12720	0.000000	0.03702	0.145000	0.21501	0.736000	0.26130	-0.255000	0.09486	-1.834000	0.00590	ATC		0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		C	85450294	A	C	85450294	3	2	395	1	0	0	0	0	1	0	0	0	9031	101	4	5	1749	5	LRRIQ1	12	85450294	Missense_Mutation	SNP	A	TCGA-BP-4983-01A-01D-1462-08	27849830	85450294	48401601	46	21836											
EP400	57634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	132491323	132491323	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr12:132491323C>T	ENST00000333577.4	+	16	3422	c.3313C>T	c.(3313-3315)Ctt>Ttt	p.L1105F	EP400_ENST00000389562.2_Missense_Mutation_p.L1068F|EP400_ENST00000330386.6_Missense_Mutation_p.L1069F|EP400_ENST00000389561.2_Missense_Mutation_p.L1069F|EP400_ENST00000332482.4_Missense_Mutation_p.L1032F			Q96L91	EP400_HUMAN	E1A binding protein p400	1105	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L1068F(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCTGGCCAAACTTTACAGGAA	0.438																																																1	Substitution - Missense(1)	kidney(1)											82	81	81					12																	132491323		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3313C>T	12.37:g.132491323C>T	ENSP00000333602:p.Leu1105Phe		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	6.487	0.458009	0.12342	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	5.71	4.81	0.61882	.	0.071421	0.64402	D	0.000018	D	0.98248	0.9420	H	0.99668	4.69	0.42002	D	0.990894	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.62298	0.9;0.9;0.9	D	0.99847	1.1067	10	0.72032	D	0.01	.	16.6371	0.85061	0.0:0.8698:0.1302:0.0	.	1069;1069;1068	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	F	1105;1069;1068;1032;1069;1069;1069	ENSP00000333602:L1105F;ENSP00000374212:L1069F;ENSP00000374213:L1068F;ENSP00000331737:L1032F;ENSP00000330620:L1069F	ENSP00000330620:L1069F	L	+	1	0	EP400	131057276	0.994000	0.37717	0.119000	0.21687	0.000000	0.00434	3.208000	0.51114	1.382000	0.46385	-0.291000	0.09656	CTT		0.438	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		T	132491323	C	T	132491323	3	4	395	1	0	0	0	0	1	0	0	0	5151	565	20	2	3256	2	EP400	12	132491323	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08	47041029	132491323	1360572	47	21837											
RALGAPA1	253959	broad.mit.edu;hgsc.bcm.edu	37	14	36096963	36096963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr14:36096963G>A	ENST00000389698.3	-	33	5062	c.4672C>T	c.(4672-4674)Cag>Tag	p.Q1558*	RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.Q1571*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.Q1558*|RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.Q1605*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1558	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.Q1558*(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						acaaagaactggaTATTTGGA	0.413																																																2	Substitution - Nonsense(2)	kidney(2)											54	51	52					14																	36096963		2203	4300	6503	SO:0001587	stop_gained	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4672C>T	14.37:g.36096963G>A	ENSP00000374348:p.Gln1558*		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	48	14.037515	0.99776	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.1932	19.8741	0.96863	0.0:0.0:1.0:0.0	.	.	.	.	X	1558;1558;1558;1605;196;1571;1605	.	ENSP00000258840:Q1605X	Q	-	1	0	RALGAPA1	35166714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.747000	0.98863	2.761000	0.94854	0.655000	0.94253	CAG		0.413	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		A	36096963	G	A	36096963	4	1	395	1	0	0	0	0	0	1	0	0	13019	1357	47	2	1623	2	RALGAPA1	14	36096963	Nonsense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08		36096963	71252577	48	21838											
NIN	51199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	51259502	51259502	+	Silent	SNP	A	A	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr14:51259502A>C	ENST00000382041.3	-	5	553	c.363T>G	c.(361-363)ccT>ccG	p.P121P	NIN_ENST00000530997.2_Silent_p.P121P|NIN_ENST00000382043.4_Silent_p.P121P|NIN_ENST00000453196.1_Silent_p.P121P|NIN_ENST00000324330.9_Silent_p.P121P|NIN_ENST00000389868.3_Silent_p.P121P|NIN_ENST00000245441.5_Silent_p.P121P|NIN_ENST00000486200.1_5'UTR	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	121					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.P121P(2)|p.P127P(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCGTCACTTCAGGAAACTCCT	0.547			T	PDGFRB	MPD																																		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	3	Substitution - coding silent(3)	kidney(3)											101	83	89					14																	51259502		2203	4300	6503	SO:0001819	synonymous_variant	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.363T>G	14.37:g.51259502A>C			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	CCDS32079.1																																																																																				0.547	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		C	51259502	A	C	51259502	2	2	395	1	0	0	0	0	0	0	0	1	10419	175	7	5		5	NIN	14	51259502	Silent	SNP	A	TCGA-BP-4983-01A-01D-1462-08	15162539	51259502	56090038	49	21839											
ATG2B	55102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	96789061	96789061	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr14:96789061T>C	ENST00000359933.4	-	17	3445	c.2552A>G	c.(2551-2553)aAa>aGa	p.K851R	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	851					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.K851R(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGGATTTATTTTCAGTACAAT	0.383																																																1	Substitution - Missense(1)	kidney(1)											103	95	98					14																	96789061		1852	4096	5948	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2552A>G	14.37:g.96789061T>C	ENSP00000353010:p.Lys851Arg		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918709	0.92249	.	.	ENSG00000066739	ENST00000359933	T	0.10668	2.85	5.67	5.67	0.87782	.	0.084363	0.45867	U	0.000337	T	0.24736	0.0600	L	0.51422	1.61	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	T	0.04811	-1.0925	10	0.11182	T	0.66	.	15.9086	0.79450	0.0:0.0:0.0:1.0	.	851	Q96BY7	ATG2B_HUMAN	R	851	ENSP00000353010:K851R	ENSP00000353010:K851R	K	-	2	0	ATG2B	95858814	1.000000	0.71417	0.978000	0.43139	0.921000	0.55340	5.773000	0.68898	2.164000	0.68074	0.533000	0.62120	AAA		0.383	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		C	96789061	T	C	96789061	3	2	395	1	0	0	0	0	1	0	0	0	1094	1841	64	3	3788	3	ATG2B	14	96789061	Missense_Mutation	SNP	T	TCGA-BP-4983-01A-01D-1462-08	45529559	96789061	10560479	50	21840											
HERC2	8924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	28501377	28501377	+	Silent	SNP	C	C	T	rs139718674		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr15:28501377C>T	ENST00000261609.7	-	18	2712	c.2604G>A	c.(2602-2604)acG>acA	p.T868T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.T868T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGTCACCACCGTCTGCTTCA	0.627																																																1	Substitution - coding silent(1)	kidney(1)											19	19	19					15																	28501377		2180	4213	6393	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2604G>A	15.37:g.28501377C>T				Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.627	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		T	28501377	C	T	28501377	2	4	395	1	0	0	0	0	0	0	0	1	7060	639	23	1		1	HERC2	15	28501377	Silent	SNP	C	TCGA-BP-4983-01A-01D-1462-08		28501377	74030015	51	21841											
RYR3	6263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	33988670	33988670	+	Silent	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr15:33988670T>C	ENST00000389232.4	+	39	6182	c.6112T>C	c.(6112-6114)Ttg>Ctg	p.L2038L	RYR3_ENST00000415757.3_Silent_p.L2038L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2038	4 X approximate repeats.				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)	p.L2038L(1)		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)		GGAAGAGGAGTTGCTCATGAT	0.517																																																1	Substitution - coding silent(1)	kidney(1)											97	103	101					15																	33988670		2090	4223	6313	SO:0001819	synonymous_variant	6263				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.6112T>C	15.37:g.33988670T>C			O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			C	33988670	T	C	33988670	2	2	395	1	0	0	0	0	0	0	0	1	13776	1722	60	3		3	RYR3	15	33988670	Silent	SNP	T	TCGA-BP-4983-01A-01D-1462-08	5487293	33988670	68542722	52	21842											
PLCB2	5330	broad.mit.edu;hgsc.bcm.edu	37	15	40594520	40594520	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr15:40594520T>A	ENST00000260402.3	-	5	652	c.403A>T	c.(403-405)Aaa>Taa	p.K135*	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Nonsense_Mutation_p.K135*|PLCB2_ENST00000456256.2_Nonsense_Mutation_p.K135*|PLCB2_ENST00000557821.1_Nonsense_Mutation_p.K135*	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	135					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.K135*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGCGGATGTTTGACTAGGGCC	0.647																																																2	Substitution - Nonsense(2)	kidney(2)											37	44	42					15																	40594520		2134	4228	6362	SO:0001587	stop_gained	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.403A>T	15.37:g.40594520T>A	ENSP00000260402:p.Lys135*		A8K6J2|B9EGH5	Nonsense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487740	0.84854	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	.	.	.	4.46	4.46	0.54185	.	0.265687	0.38164	N	0.001800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2176	0.48835	0.0:0.0:0.1643:0.8357	.	.	.	.	X	135	.	ENSP00000260402:K135X	K	-	1	0	PLCB2	38381812	0.620000	0.27068	1.000000	0.80357	0.483000	0.33249	1.377000	0.34317	2.008000	0.58898	0.459000	0.35465	AAA		0.647	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			A	40594520	T	A	40594520	4	1	395	1	0	0	0	0	0	1	0	0	12030	1821	63	5	3266	5	PLCB2	15	40594520	Nonsense_Mutation	SNP	T	TCGA-BP-4983-01A-01D-1462-08	6605850	40594520	61936872	53	21843											
DENND4A	10260	broad.mit.edu;hgsc.bcm.edu	37	15	65954291	65954291	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr15:65954291A>C	ENST00000431932.2	-	32	5698	c.5490T>G	c.(5488-5490)gaT>gaG	p.D1830E	DENND4A_ENST00000443035.3_Missense_Mutation_p.D1873E	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1830					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D1873E(1)|p.D1832E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTGTGAGACGATCGTATGCCA	0.363																																																2	Substitution - Missense(2)	kidney(2)											180	157	164					15																	65954291		1870	4112	5982	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5490T>G	15.37:g.65954291A>C	ENSP00000396830:p.Asp1830Glu		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	A	5.933	0.356201	0.11239	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04706	3.57;3.58	4.47	2.13	0.27403	.	0.000000	0.85682	D	0.000000	T	0.03053	0.0090	N	0.25825	0.765	0.41908	D	0.990458	B;B	0.22683	0.073;0.073	B;B	0.22880	0.039;0.042	T	0.50224	-0.8853	10	0.17832	T	0.49	.	4.3186	0.11005	0.5488:0.1674:0.2838:0.0	.	1873;1830	E7EPL3;Q7Z401	.;MYCPP_HUMAN	E	1873;1830	ENSP00000391167:D1873E;ENSP00000396830:D1830E	ENSP00000396830:D1830E	D	-	3	2	DENND4A	63741345	0.988000	0.35896	0.993000	0.49108	0.923000	0.55619	0.359000	0.20233	0.258000	0.21686	0.477000	0.44152	GAT		0.363	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		C	65954291	A	C	65954291	3	2	395	1	0	0	0	0	1	0	0	0	4435	330	12	5	105	5	DENND4A	15	65954291	Missense_Mutation	SNP	A	TCGA-BP-4983-01A-01D-1462-08	25359771	65954291	36577101	54	21844											
ACAN	176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89382103	89382103	+	Missense_Mutation	SNP	G	G	A	rs370626315		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr15:89382103G>A	ENST00000561243.1	+	2	280	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	ACAN_ENST00000559004.1_Missense_Mutation_p.V94M|ACAN_ENST00000558207.1_Missense_Mutation_p.V94M|ACAN_ENST00000439576.2_Missense_Mutation_p.V94M|ACAN_ENST00000352105.7_Missense_Mutation_p.V94M			P16112	PGCA_HUMAN	aggrecan	94	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.V94M(3)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAAGGGCGCGTGCGGGTCAA	0.622																																																3	Substitution - Missense(3)	kidney(2)|prostate(1)						G	MET/VAL,MET/VAL	0,4276		0,0,2138	134	157	149		280,280	5.4	0.9	15		149	1,8527		0,1,4263	no	missense,missense	ACAN	NM_001135.3,NM_013227.3	21,21	0,1,6401	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging,probably-damaging	94/2432,94/2531	89382103	1,12803	2138	4264	6402	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.280G>A	15.37:g.89382103G>A	ENSP00000453342:p.Val94Met		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034580	0.54896	0.0	1.17E-4	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.65549	-0.16;-0.16	5.36	5.36	0.76844	.	.	.	.	.	T	0.79034	0.4378	M	0.83384	2.64	0.37593	D	0.920267	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.986	D	0.83501	0.0075	9	0.72032	D	0.01	-17.7678	11.838	0.52338	0.0897:0.0:0.9103:0.0	.	94;94;94	E7ENV9;E7EX88;Q6PID9	.;.;.	M	94	ENSP00000387356:V94M;ENSP00000341615:V94M	ENSP00000268134:V94M	V	+	1	0	ACAN	87183107	1.000000	0.71417	0.850000	0.33497	0.789000	0.44602	5.568000	0.67385	2.689000	0.91719	0.591000	0.81541	GTG		0.622	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89382103	G	A	89382103	3	1	395	1	0	0	0	0	1	0	0	0	117	1145	40	1	286	1	ACAN	15	89382103	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	23427812	89382103	13149289	55	21845											
TPSAB1	7177	broad.mit.edu;hgsc.bcm.edu	37	16	1291647	1291647	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr16:1291647T>C	ENST00000338844.3	+	4	479	c.446T>C	c.(445-447)tTc>tCc	p.F149S	TPSAB1_ENST00000461509.2_Missense_Mutation_p.F156S	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	149	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.F149S(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TCAGAGACCTTCCCCCCGGGG	0.677																																																1	Substitution - Missense(1)	kidney(1)											45	38	40					16																	1291647		2199	4298	6497	SO:0001583	missense	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.446T>C	16.37:g.1291647T>C	ENSP00000343577:p.Phe149Ser		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022238	0.35701	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.88124	-2.34;-2.34	3.74	3.74	0.42951	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.45361	D	0.000373	D	0.89670	0.6782	L	0.42686	1.345	0.45066	D	0.99808	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89962	0.4087	10	0.87932	D	0	.	10.7423	0.46160	0.0:0.0:0.0:1.0	.	140;149	Q15661-2;Q15661	.;TRYB1_HUMAN	S	149;156	ENSP00000343577:F149S;ENSP00000418247:F156S	ENSP00000343577:F149S	F	+	2	0	TPSAB1	1231648	0.000000	0.05858	0.996000	0.52242	0.680000	0.39746	0.561000	0.23515	1.483000	0.48342	0.392000	0.25879	TTC		0.677	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		C	1291647	T	C	1291647	3	2	395	1	0	0	0	0	1	0	0	0	16428	1783	62	3	456	3	TPSAB1	16	1291647	Missense_Mutation	SNP	T	TCGA-BP-4983-01A-01D-1462-08		1291647	89063106	56	21846											
TRAF7	84231	broad.mit.edu;ucsc.edu	37	16	2225568	2225568	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr16:2225568G>A	ENST00000326181.6	+	17	1703	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	524					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R524Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CACTGGGTGCGGGCCCTGGTG	0.632																																																1	Substitution - Missense(1)	kidney(1)											67	67	67					16																	2225568		2198	4300	6498	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1571G>A	16.37:g.2225568G>A	ENSP00000318944:p.Arg524Gln		Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114223	0.94339	.	.	ENSG00000131653	ENST00000326181	T	0.62232	0.04	4.49	3.53	0.40419	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77883	0.4197	M	0.82132	2.575	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.79612	-0.1731	10	0.52906	T	0.07	-36.0301	12.0919	0.53730	0.0845:0.0:0.9155:0.0	.	524	Q6Q0C0	TRAF7_HUMAN	Q	524	ENSP00000318944:R524Q	ENSP00000318944:R524Q	R	+	2	0	TRAF7	2165569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.704000	0.91351	1.254000	0.44035	0.561000	0.74099	CGG		0.632	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		A	2225568	G	A	2225568	3	1	395	1	0	0	0	0	1	0	0	0	16451	1116	39	1	1633	1	TRAF7	16	2225568	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	933921	2225568	88129185	57	21847											
ZZEF1	23140	broad.mit.edu	37	17	3984690	3984690	+	Missense_Mutation	SNP	C	C	T	rs559335570		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:3984690C>T	ENST00000381638.2	-	18	2933	c.2809G>A	c.(2809-2811)Gtc>Atc	p.V937I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	937							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.V937I(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCAACAGAGACGAGAGTGTCC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		17457	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											138	122	127					17																	3984690		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2809G>A	17.37:g.3984690C>T	ENSP00000371051:p.Val937Ile		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.719868	0.48728	.	.	ENSG00000074755	ENST00000381638	T	0.19250	2.16	5.36	3.39	0.38822	.	0.215622	0.40554	N	0.001063	T	0.11110	0.0271	N	0.08118	0	0.19775	N	0.999957	B;B	0.12013	0.005;0.003	B;B	0.01281	0.0;0.0	T	0.22977	-1.0201	10	0.87932	D	0	-4.0113	10.367	0.44030	0.0736:0.1356:0.7908:0.0	.	938;937	O43149-3;O43149	.;ZZEF1_HUMAN	I	937	ENSP00000371051:V937I	ENSP00000371051:V937I	V	-	1	0	ZZEF1	3931439	1.000000	0.71417	0.594000	0.28785	0.789000	0.44602	4.945000	0.63568	0.649000	0.30751	-0.965000	0.02619	GTC		0.537	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		T	3984690	C	T	3984690	3	4	395	1	0	0	0	0	1	0	0	0	18260	536	19	1	6228	1	ZZEF1	17	3984690	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08		3984690	77210520	58	21848											
C17orf66	256957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34190111	34190111	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:34190111A>G	ENST00000311880.2	-	8	792	c.644T>C	c.(643-645)gTg>gCg	p.V215A	C17orf66_ENST00000587585.1_5'Flank|C17orf66_ENST00000592980.1_Missense_Mutation_p.V175A	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		215					hematopoietic progenitor cell differentiation (GO:0002244)			p.V215A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AGCCCGGATCACATGCTTATT	0.552																																																1	Substitution - Missense(1)	kidney(1)											126	121	123					17																	34190111		2203	4300	6503	SO:0001583	missense	256957																														ENST00000311880.2:c.644T>C	17.37:g.34190111A>G	ENSP00000309560:p.Val215Ala		B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879967	0.72294	.	.	ENSG00000172653	ENST00000311880	T	0.45668	0.89	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.44097	D	0.000487	T	0.46600	0.1401	L	0.34521	1.04	0.37039	D	0.897074	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.987	T	0.42103	-0.9471	10	0.06365	T	0.9	.	11.7106	0.51623	1.0:0.0:0.0:0.0	.	181;175;215	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	A	215	ENSP00000309560:V215A	ENSP00000309560:V215A	V	-	2	0	C17orf66	31214224	1.000000	0.71417	0.976000	0.42696	0.989000	0.77384	4.007000	0.57093	2.269000	0.75478	0.533000	0.62120	GTG		0.552	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			G	34190111	A	G	34190111	3	3	395	1	0	0	0	0	1	0	0	0	1876	159	6	3	1100	3	C17orf66	17	34190111	Missense_Mutation	SNP	A	TCGA-BP-4983-01A-01D-1462-08	30205421	34190111	47005099	59	21849											
CHAD	1101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48545894	48545894	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:48545894G>A	ENST00000508540.1	-	1	433	c.281C>T	c.(280-282)gCc>gTc	p.A94V	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A94V	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	94					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.A94V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCCGCGGAAGGCACCGGCGGC	0.617																																																1	Substitution - Missense(1)	kidney(1)											74	66	69					17																	48545894		2203	4300	6503	SO:0001583	missense	1101			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.281C>T	17.37:g.48545894G>A	ENSP00000423812:p.Ala94Val		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145513	0.94603	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.05081	3.5;3.5	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00920	-1.1514	10	0.62326	D	0.03	.	16.9843	0.86336	0.0:0.0:1.0:0.0	.	94	O15335	CHAD_HUMAN	V	94	ENSP00000423812:A94V;ENSP00000258969:A94V	ENSP00000258969:A94V	A	-	2	0	CHAD	45900893	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.577000	0.98196	2.232000	0.73038	0.462000	0.41574	GCC		0.617	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		A	48545894	G	A	48545894	3	1	395	1	0	0	0	0	1	0	0	0	3312	1203	42	2	810	2	CHAD	17	48545894	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	14355783	48545894	32649316	60	21850											
MRC2	9902	broad.mit.edu	37	17	60743545	60743545	+	Missense_Mutation	SNP	C	C	T	rs572758323	byFrequency	TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:60743545C>T	ENST00000303375.5	+	3	1013	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	204	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.T204M(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGCACCAGCACGGGCCGCGAG	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		18845	0.0		0.0	False		,,,				2504	0.002															1	Substitution - Missense(1)	kidney(1)											58	43	48					17																	60743545		2203	4300	6503	SO:0001583	missense	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.611C>T	17.37:g.60743545C>T	ENSP00000307513:p.Thr204Met		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740433	0.49045	.	.	ENSG00000011028	ENST00000303375	T	0.50548	0.74	4.67	4.67	0.58626	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.057093	0.64402	D	0.000001	T	0.34164	0.0888	L	0.33245	0.995	0.80722	D	1	P	0.45396	0.857	B	0.37047	0.24	T	0.21552	-1.0242	10	0.46703	T	0.11	-11.7791	12.225	0.54455	0.0:0.9184:0.0:0.0816	.	204	Q9UBG0	MRC2_HUMAN	M	204	ENSP00000307513:T204M	ENSP00000307513:T204M	T	+	2	0	MRC2	58097277	0.937000	0.31787	0.995000	0.50966	0.990000	0.78478	1.860000	0.39428	2.428000	0.82296	0.561000	0.74099	ACG		0.612	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			T	60743545	C	T	60743545	3	4	395	1	0	0	0	0	1	0	0	0	9760	536	19	1	621	1	MRC2	17	60743545	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08	12197651	60743545	20451665	61	21851											
CD79B	974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62009607	62009607	+	Silent	SNP	C	C	T	rs199930415		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:62009607C>T	ENST00000006750.3	-	1	107	c.15G>A	c.(13-15)gcG>gcA	p.A5A	CD79B_ENST00000392795.3_Silent_p.A5A|CD79B_ENST00000349817.2_Silent_p.A5A	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	5					B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.A5A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CAGGAGACAACGCCAGCCTGG	0.622			"Mis, O"		DLBCL																																		Dom	yes		17	17q23	974	"CD79b molecule, immunoglobulin-associated beta"		L	1	Substitution - coding silent(1)	kidney(1)											88	68	75					17																	62009607		2203	4300	6503	SO:0001819	synonymous_variant	974			L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.15G>A	17.37:g.62009607C>T			Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	CCDS11655.1																																																																																				0.622	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			T	62009607	C	T	62009607	2	4	395	1	0	0	0	0	0	0	0	1	3039	523	19	1		1	CD79B	17	62009607	Silent	SNP	C	TCGA-BP-4983-01A-01D-1462-08	1266062	62009607	19185603	62	21852											
SLC38A10	124565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79220707	79220707	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:79220707G>A	ENST00000374759.3	-	15	2603	c.2220C>T	c.(2218-2220)gaC>gaT	p.D740D		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	740					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D740D(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TATCCTCCTCGTCCTCCTGCC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											55	65	61					17																	79220707		2086	4205	6291	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2220C>T	17.37:g.79220707G>A			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																				0.647	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		A	79220707	G	A	79220707	2	1	395	1	0	0	0	0	0	0	0	1	14608	1136	40	1		1	SLC38A10	17	79220707	Silent	SNP	G	TCGA-BP-4983-01A-01D-1462-08	17211100	79220707	1974503	63	21853											
ELP2	55250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33750159	33750159	+	Splice_Site	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr18:33750159G>T	ENST00000358232.6	+	20	2273	c.2210G>T	c.(2209-2211)cGa>cTa	p.R737L	ELP2_ENST00000423854.2_Splice_Site_p.R667L|ELP2_ENST00000442325.2_Splice_Site_p.R802L|ELP2_ENST00000542824.1_Splice_Site_p.R667L|ELP2_ENST00000350494.6_Splice_Site_p.R732L|ELP2_ENST00000351393.6_Splice_Site_p.R711L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	737					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)		p.R737L(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CCTTCTCAACGGTCAGTCTCT	0.512																																																1	Substitution - Missense(1)	kidney(1)											128	109	116					18																	33750159		2203	4300	6503	SO:0001630	splice_region_variant	55250			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.2210+1G>T	18.37:g.33750159G>T			A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054885	0.36277	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.047294	0.85682	D	0.000000	T	0.80193	0.4578	M	0.77103	2.36	0.49687	D	0.999817	D;P;D;D;P;P	0.64830	0.994;0.955;0.994;0.975;0.817;0.914	P;P;P;P;P;P	0.60345	0.858;0.581;0.873;0.812;0.562;0.494	T	0.78301	-0.2257	10	0.27785	T	0.31	-11.1801	13.0019	0.58681	0.0:0.0:1.0:0.0	.	732;802;667;667;711;737	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	L	737;711;802;667;732;667	ENSP00000350967:R737L;ENSP00000257191:R711L;ENSP00000414851:R802L;ENSP00000391202:R667L;ENSP00000316051:R732L;ENSP00000443800:R667L	ENSP00000316051:R732L	R	+	2	0	ELP2	32004157	1.000000	0.71417	0.916000	0.36221	0.184000	0.23303	7.200000	0.77838	2.440000	0.82611	0.591000	0.81541	CGA		0.512	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255	Missense_Mutation	T	33750159	G	T	33750159	5	4	395	1	0	0	0	0	0	0	1	0	5082	1130	39	4	2288	4	ELP2	18	33750159	Splice_Site	SNP	G	TCGA-BP-4983-01A-01D-1462-08		33750159	44327089	64	21854											
CDH20	28316	broad.mit.edu;hgsc.bcm.edu	37	18	59195205	59195205	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr18:59195205G>A	ENST00000262717.4	+	7	1421	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	CDH20_ENST00000538374.1_Silent_p.L341L|CDH20_ENST00000536675.2_Silent_p.L341L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	341	Cadherin 3. {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)	p.L341L(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTCAGCCCCTGAGTTTTGAAA	0.438																																																1	Substitution - coding silent(1)	kidney(1)											64	61	62					18																	59195205		2203	4300	6503	SO:0001819	synonymous_variant	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1023G>A	18.37:g.59195205G>A			Q495S3	Silent	SNP	ENST00000262717.4	37	CCDS11977.1																																																																																				0.438	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		A	59195205	G	A	59195205	2	1	395	1	0	0	0	0	0	0	0	1	3108	1277	45	2		2	CDH20	18	59195205	Silent	SNP	G	TCGA-BP-4983-01A-01D-1462-08	25445046	59195205	18882043	65	21855											
CYP2B6	1555	broad.mit.edu;hgsc.bcm.edu	37	19	41515984	41515984	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr19:41515984C>T	ENST00000324071.4	+	6	915	c.908C>T	c.(907-909)aCc>aTc	p.T303I	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	303					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.T303I(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	ACTGAGACCACCAGCACCACT	0.562																																																1	Substitution - Missense(1)	kidney(1)											151	108	123					19																	41515984		2203	4299	6502	SO:0001583	missense	1555			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.908C>T	19.37:g.41515984C>T	ENSP00000324648:p.Thr303Ile		B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.005797	0.74932	.	.	ENSG00000197408	ENST00000324071	T	0.02606	4.23	4.58	3.54	0.40534	.	0.190375	0.45361	D	0.000376	T	0.07052	0.0179	L	0.59436	1.845	0.80722	D	1	P	0.48503	0.911	P	0.51016	0.656	T	0.14448	-1.0472	10	0.56958	D	0.05	.	10.7588	0.46253	0.0:0.9059:0.0:0.0941	.	303	P20813	CP2B6_HUMAN	I	303	ENSP00000324648:T303I	ENSP00000324648:T303I	T	+	2	0	CYP2B6	46207824	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	0.297000	0.19101	1.162000	0.42619	0.550000	0.68814	ACC		0.562	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		T	41515984	C	T	41515984	3	4	395	1	0	0	0	0	1	0	0	0	4166	507	18	2	930	2	CYP2B6	19	41515984	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08		41515984	17612999	66	21856											
ASXL1	171023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31023504	31023504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr20:31023504G>T	ENST00000375687.4	+	13	3413	c.2989G>T	c.(2989-2991)Gag>Tag	p.E997*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.E992*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	997					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E997*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCCTCACGGTGAGTCCACGGA	0.517			"F, N, Mis"		"MDS, CMML"																																		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Nonsense(1)	kidney(1)											97	81	86					20																	31023504		2203	4300	6503	SO:0001587	stop_gained	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2989G>T	20.37:g.31023504G>T	ENSP00000364839:p.Glu997*		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	43	10.454035	0.99408	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.76	4.76	0.60689	.	0.577829	0.18615	N	0.136021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.2652	16.5141	0.84294	0.0:0.0:1.0:0.0	.	.	.	.	X	997;997;997;918;992	.	ENSP00000305119:E992X	E	+	1	0	ASXL1	30487165	1.000000	0.71417	0.853000	0.33588	0.897000	0.52465	7.868000	0.87116	2.644000	0.89710	0.491000	0.48974	GAG		0.517	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		T	31023504	G	T	31023504	4	4	395	1	0	0	0	0	0	1	0	0	1066	1291	45	4	3045	4	ASXL1	20	31023504	Nonsense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08		31023504	32002016	67	21857											
LPIN3	64900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39987126	39987126	+	Silent	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr20:39987126C>T	ENST00000373257.3	+	19	2446	c.2355C>T	c.(2353-2355)ttC>ttT	p.F785F	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	785	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.F785F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CACGCATCTTCACAGTCAACC	0.607																																																1	Substitution - coding silent(1)	kidney(1)											75	80	78					20																	39987126		2203	4300	6503	SO:0001819	synonymous_variant	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2355C>T	20.37:g.39987126C>T			B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	CCDS33469.1																																																																																				0.607	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		T	39987126	C	T	39987126	2	4	395	1	0	0	0	0	0	0	0	1	8922	825	29	2		2	LPIN3	20	39987126	Silent	SNP	C	TCGA-BP-4983-01A-01D-1462-08	8963622	39987126	23038394	68	21858											
ZMYND8	23613	broad.mit.edu;hgsc.bcm.edu	37	20	45927547	45927547	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr20:45927547G>T	ENST00000311275.7	-	4	572	c.319C>A	c.(319-321)Ccc>Acc	p.P107T	ZMYND8_ENST00000540497.1_Missense_Mutation_p.P102T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P107T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P107T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P134T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P82T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P102T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P127T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P127T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P127T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P102T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P102T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P107T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	107					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.P127T(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TAAACCCGGGGACAGAGCTCA	0.507																																																1	Substitution - Missense(1)	kidney(1)											124	98	107					20																	45927547		2203	4300	6503	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.319C>A	20.37:g.45927547G>T	ENSP00000312237:p.Pro107Thr		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.048695|5.048695	0.93740|0.93740	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.40225|.	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04|.	6.11|6.11	6.11|6.11	0.99139|0.99139	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73016|0.73016	0.3533|0.3533	L|L	0.54863|0.54863	1.705|1.705	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.975;1.0;0.999;0.975;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.998;0.999;1.0;1.0;0.999;1.0;0.969;1.0;0.997;0.938;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999|.	T|T	0.66724|0.66724	-0.5851|-0.5851	10|5	0.72032|.	D|.	0.01|.	-9.5593|-9.5593	20.7342|20.7342	0.99715|0.99715	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	102;134;102;102;127;101;127;107;102;127;127;107;82;102;102;127;102;107|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q569J9;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	T|Y	102;107;102;107;127;127;107;134;107;82;127;102;102;82|33	ENSP00000354166:P102T;ENSP00000312237:P107T;ENSP00000392964:P102T;ENSP00000262975:P107T;ENSP00000420095:P127T;ENSP00000335537:P127T;ENSP00000379577:P107T;ENSP00000439800:P134T;ENSP00000348246:P107T;ENSP00000396725:P82T;ENSP00000418210:P127T;ENSP00000361093:P102T;ENSP00000443086:P102T;ENSP00000413727:P82T|.	ENSP00000262975:P107T|.	P|S	-|-	1|2	0|0	ZMYND8|ZMYND8	45360954|45360954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	9.869000|9.869000	0.99810|0.99810	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.507	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		T	45927547	G	T	45927547	3	4	395	1	0	0	0	0	1	0	0	0	17716	1174	41	4	3267	4	ZMYND8	20	45927547	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	5940421	45927547	17097973	69	21859											
GCFC1	94104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34117899	34117899	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr21:34117899A>C	ENST00000331923.4	-	12	2243	c.2054T>G	c.(2053-2055)cTt>cGt	p.L685R	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1_ENST00000290178.4_Missense_Mutation_p.L685R	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	685					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L685R(1)									TAGTTTAGGAAGAATCACCTT	0.363																																																1	Substitution - Missense(1)	kidney(1)											192	168	176					21																	34117899		2203	4300	6503	SO:0001583	missense	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2054T>G	21.37:g.34117899A>C	ENSP00000328992:p.Leu685Arg		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385675	0.82792	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.55588	0.51;0.51	5.52	5.52	0.82312	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	T	0.74898	0.3777	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.79296	-0.1862	10	0.87932	D	0	-17.7291	15.5932	0.76554	1.0:0.0:0.0:0.0	.	685;685;194	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	R	685	ENSP00000328992:L685R;ENSP00000290178:L685R	ENSP00000290178:L685R	L	-	2	0	GCFC1	33039770	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.225000	0.72522	0.459000	0.35465	CTT		0.363	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		C	34117899	A	C	34117899	3	2	395	1	0	0	0	0	1	0	0	0	6291	72	3	5	845	5	GCFC1	21	34117899	Missense_Mutation	SNP	A	TCGA-BP-4983-01A-01D-1462-08		34117899	14011996	70	21860											
OSBP2	23762	broad.mit.edu	37	22	31091334	31091334	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr22:31091334G>A	ENST00000332585.6	+	1	542	c.438G>A	c.(436-438)gcG>gcA	p.A146A	OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Silent_p.A146A|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Silent_p.A146A	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	146					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.A146A(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CGCTGCCAGCGTTAAAGCCCC	0.652																																																1	Substitution - coding silent(1)	kidney(1)											31	36	34					22																	31091334		2017	4165	6182	SO:0001819	synonymous_variant	23762				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.438G>A	22.37:g.31091334G>A			B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	CCDS43002.1																																																																																				0.652	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		A	31091334	G	A	31091334	2	1	395	1	0	0	0	0	0	0	0	1	11276	1132	40	1		1	OSBP2	22	31091334	Silent	SNP	G	TCGA-BP-4983-01A-01D-1462-08		31091334	20213232	71	21861											
TUBGCP6	85378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50660936	50660936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr22:50660936G>A	ENST00000248846.5	-	14	2460	c.2356C>T	c.(2356-2358)Cga>Tga	p.R786*	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Nonsense_Mutation_p.R786*			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	786					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.R786*(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTCTCCAGTCGGTGCCTCTGG	0.572																																																1	Substitution - Nonsense(1)	kidney(1)											76	69	71					22																	50660936		2203	4300	6503	SO:0001587	stop_gained	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2356C>T	22.37:g.50660936G>A	ENSP00000248846:p.Arg786*		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Nonsense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	43	10.059809	0.99327	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	.	.	.	4.9	-0.104	0.13605	.	0.428655	0.25750	N	0.028555	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.95	0.64111	0.0:0.0:0.4398:0.5602	.	.	.	.	X	786	.	ENSP00000248846:R786X	R	-	1	2	TUBGCP6	49003063	0.765000	0.28485	0.229000	0.23960	0.823000	0.46562	0.517000	0.22832	-0.283000	0.09115	0.561000	0.74099	CGA		0.572	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		A	50660936	G	A	50660936	4	1	395	1	0	0	0	0	0	1	0	0	16775	1124	39	1	3151	1	TUBGCP6	22	50660936	Nonsense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	19569602	50660936	643630	72	21862											
GPR174	84636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	78426732	78426732	+	Silent	SNP	C	C	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chrX:78426732C>A	ENST00000276077.1	+	1	264	c.228C>A	c.(226-228)atC>atA	p.I76I		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I76I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CACTGAGGATCTTCTACTACT	0.388										HNSCC(63;0.18)																																						1	Substitution - coding silent(1)	kidney(1)											128	97	108					X																	78426732		2203	4300	6503	SO:0001819	synonymous_variant	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.228C>A	X.37:g.78426732C>A			Q2M3F7	Silent	SNP	ENST00000276077.1	37	CCDS14443.1																																																																																				0.388	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		A	78426732	C	A	78426732	2	1	395	1	0	0	0	0	0	0	0	1	6674	903	32	4		4	GPR174	23	78426732	Silent	SNP	C	TCGA-BP-4983-01A-01D-1462-08		78426732	76843828	73	21863											
CYLC1	1538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	83128044	83128044	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chrX:83128044C>T	ENST00000329312.4	+	4	365	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	110					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L110F(1)|p.L109F(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAAACCCATCTTAAAAAAGC	0.368																																																2	Substitution - Missense(2)	kidney(2)											35	32	33					X																	83128044		2199	4292	6491	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.328C>T	X.37:g.83128044C>T	ENSP00000331556:p.Leu110Phe		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	1.184	-0.637392	0.03557	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.44482	0.92	4.58	0.598	0.17512	.	.	.	.	.	T	0.20740	0.0499	N	0.14661	0.345	0.09310	N	1	P;P	0.41080	0.737;0.737	B;B	0.41691	0.364;0.364	T	0.11616	-1.0580	9	0.09843	T	0.71	3.6038	3.6359	0.08148	0.0:0.4647:0.1876:0.3477	.	110;110	P35663;F5H4V5	CYLC1_HUMAN;.	F	110	ENSP00000331556:L110F	ENSP00000331556:L110F	L	+	1	0	CYLC1	83014700	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-2.047000	0.01408	-0.124000	0.11724	0.600000	0.82982	CTT		0.368	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		T	83128044	C	T	83128044	3	4	395	1	0	0	0	0	1	0	0	0	4143	913	32	2	342	2	CYLC1	23	83128044	Missense_Mutation	SNP	C	TCGA-BP-4983-01A-01D-1462-08	4701312	83128044	72142516	74	21864											
L1CAM	3897	broad.mit.edu	37	X	153130647	153130647	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chrX:153130647G>A	ENST00000370060.1	-	22	2957	c.2768C>T	c.(2767-2769)gCg>gTg	p.A923V	L1CAM_ENST00000361699.4_Missense_Mutation_p.A923V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A925V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A925V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A918V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A923V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A918V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	923	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.A923V(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTGCAACGCCTCGGGGTG	0.687																																																1	Substitution - Missense(1)	kidney(1)											31	28	29					X																	153130647		2194	4292	6486	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2768C>T	X.37:g.153130647G>A	ENSP00000359077:p.Ala923Val		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172724	0.38413	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.259005	0.27280	N	0.020088	T	0.39517	0.1081	L	0.42245	1.32	0.09310	N	1	B;P;B	0.35456	0.087;0.502;0.106	B;B;B	0.33521	0.033;0.165;0.033	T	0.24621	-1.0155	10	0.14656	T	0.56	.	8.8655	0.35282	0.1044:0.0:0.8956:0.0	.	918;923;923	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	923;925;923;925;918;918;923	ENSP00000359077:A923V;ENSP00000438430:A925V;ENSP00000359074:A923V;ENSP00000439645:A925V;ENSP00000354712:A918V;ENSP00000359072:A918V;ENSP00000355380:A923V	ENSP00000355380:A923V	A	-	2	0	L1CAM	152783841	0.991000	0.36638	0.648000	0.29521	0.798000	0.45092	2.749000	0.47492	2.147000	0.66899	0.529000	0.55759	GCG		0.687	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		A	153130647	G	A	153130647	3	1	395	1	0	0	0	0	1	0	0	0	8590	1087	38	1	1037	1	L1CAM	23	153130647	Missense_Mutation	SNP	G	TCGA-BP-4983-01A-01D-1462-08	70002603	153130647	2139913	75	21865											
GUCA2A	2980	hgsc.bcm.edu;ucsc.edu	37	1	42629119	42629119	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:42629119G>A	ENST00000357001.2	-	2	243	c.238C>T	c.(238-240)Cct>Tct	p.P80S		NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)	80						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	guanylate cyclase activator activity (GO:0030250)|hormone activity (GO:0005179)	p.P80S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGCAGAGAGGCTTGAGTTCT	0.562																																																1	Substitution - Missense(1)	kidney(1)											56	53	54					1																	42629119		2203	4300	6503	SO:0001583	missense	2980			X74322	CCDS465.1	1p35-p34	2014-01-30			ENSG00000197273	ENSG00000197273		"Endogenous ligands"	4682	protein-coding gene	gene with protein product	"prepro-guanylin"	139392		GUCA2		1327879, 7892222	Standard	NM_033553		Approved	STARA	uc001chd.1	Q02747	OTTHUMG00000007023	ENST00000357001.2:c.238C>T	1.37:g.42629119G>A	ENSP00000349493:p.Pro80Ser			Missense_Mutation	SNP	ENST00000357001.2	37	CCDS465.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604162	0.87157	.	.	ENSG00000197273	ENST00000357001	T	0.62232	0.04	5.79	2.81	0.32909	.	0.123966	0.56097	N	0.000039	T	0.65123	0.2661	M	0.87180	2.865	0.22728	N	0.998804	P	0.47484	0.896	P	0.44394	0.448	T	0.62248	-0.6894	10	0.66056	D	0.02	0.4501	6.1409	0.20259	0.1699:0.1536:0.6765:0.0	.	80	Q02747	GUC2A_HUMAN	S	80	ENSP00000349493:P80S	ENSP00000349493:P80S	P	-	1	0	GUCA2A	42401706	0.187000	0.23238	0.244000	0.24202	0.977000	0.68977	1.276000	0.33156	0.752000	0.32923	0.655000	0.94253	CCT		0.562	GUCA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018306.1	NM_033553		A	42629119	G	A	42629119	3	1	396	1	0	0	0	0	1	0	0	0	6893	1203	42	2	117	2	GUCA2A	1	42629119	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08		42629119	206621502	1	21866											
C1orf175	374977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	55166858	55166858	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:55166858C>T	ENST00000421030.2	+	19	3433	c.3148C>T	c.(3148-3150)Ctg>Ttg	p.L1050L	MROH7_ENST00000409996.1_Silent_p.L618L|MROH7-TTC4_ENST00000414150.2_Silent_p.L1050L|MROH7_ENST00000454855.2_Silent_p.L568L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1050						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L1047L(1)|p.L1050L(1)									GGTGAAGGGCCTGAAGAACAT	0.582																																																2	Substitution - coding silent(2)	kidney(2)											77	81	80					1																	55166858		2076	4215	6291	SO:0001819	synonymous_variant	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3148C>T	1.37:g.55166858C>T			A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	CCDS41342.2																																																																																				0.582	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		T	55166858	C	T	55166858	2	4	396	1	0	0	0	0	0	0	0	1	2018	680	24	2		2	C1orf175	1	55166858	Silent	SNP	C	TCGA-BP-4985-01A-01D-1462-08	12537739	55166858	194083763	2	21867											
OLFM3	118427	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	102302569	102302569	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:102302569G>C	ENST00000338858.5	-	2	141	c.142C>G	c.(142-144)Cct>Gct	p.P48A	OLFM3_ENST00000359814.3_Missense_Mutation_p.P48A|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.P28A|OLFM3_ENST00000536598.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	48					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.P28A(1)|p.P48A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CCTTCTTTAGGACTAATCTGA	0.448																																																2	Substitution - Missense(2)	kidney(2)											61	58	59					1																	102302569		2203	4300	6503	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.142C>G	1.37:g.102302569G>C	ENSP00000345192:p.Pro48Ala		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	G	22.2	4.260016	0.80246	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000359814	D;D;T	0.88896	-2.44;-2.44;0.87	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.93785	0.8013	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.83275	0.94;0.996	D	0.92911	0.6347	10	0.66056	D	0.02	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	28;48	Q5T3V6;Q96PB7	.;NOE3_HUMAN	A	28;48;48	ENSP00000359121:P28A;ENSP00000345192:P48A;ENSP00000352867:P48A	ENSP00000345192:P48A	P	-	1	0	OLFM3	102075157	1.000000	0.71417	0.998000	0.56505	0.729000	0.41735	9.561000	0.98142	2.937000	0.99478	0.650000	0.86243	CCT		0.448	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			C	102302569	G	C	102302569	3	2	396	1	0	0	0	0	1	0	0	0	10856	1174	41	4	1314	4	OLFM3	1	102302569	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	47135711	102302569	146948052	3	21868											
AHCYL1	10768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110553967	110553967	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:110553967A>C	ENST00000369799.5	+	3	731	c.364A>C	c.(364-366)Att>Ctt	p.I122L	AHCYL1_ENST00000393614.4_Missense_Mutation_p.I75L|AHCYL1_ENST00000359172.3_Missense_Mutation_p.I75L|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	122					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)	p.I122L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		GGAGATTGAGATTGCAGAGCA	0.488																																																1	Substitution - Missense(1)	kidney(1)											162	103	123					1																	110553967		2203	4300	6503	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.364A>C	1.37:g.110553967A>C	ENSP00000358814:p.Ile122Leu		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884218	0.72410	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.74632	-0.86;-0.86;-0.86	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.35288	1.05	0.80722	D	1	B	0.09022	0.002	B	0.28916	0.096	T	0.53634	-0.8411	10	0.19590	T	0.45	-11.0086	16.3756	0.83387	1.0:0.0:0.0:0.0	.	122	O43865	SAHH2_HUMAN	L	122;75;75	ENSP00000358814:I122L;ENSP00000352092:I75L;ENSP00000377238:I75L	ENSP00000352092:I75L	I	+	1	0	AHCYL1	110355490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.270000	0.75569	0.460000	0.39030	ATT		0.488	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			C	110553967	A	C	110553967	3	2	396	1	0	0	0	0	1	0	0	0	410	333	12	5	374	5	AHCYL1	1	110553967	Missense_Mutation	SNP	A	TCGA-BP-4985-01A-01D-1462-08	8251398	110553967	138696654	4	21869											
TMCO1	54499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	165712544	165712544	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:165712544C>T	ENST00000392129.6	-	6	478	c.328G>A	c.(328-330)Gat>Aat	p.D110N	TMCO1_ENST00000367881.5_Missense_Mutation_p.D161N|TMCO1_ENST00000464650.1_Missense_Mutation_p.D26N|TMCO1_ENST00000580248.1_Missense_Mutation_p.D26N	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	110						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D110N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ACTCTACCATCAAATCTAAAA	0.378																																																1	Substitution - Missense(1)	kidney(1)											53	57	56					1																	165712544		2203	4300	6503	SO:0001583	missense	54499			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.328G>A	1.37:g.165712544C>T	ENSP00000375975:p.Asp110Asn		B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	37		.	.	.	.	.	.	.	.	.	.	C	34	5.319670	0.95682	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	6.08	6.08	0.98989	.	0.045787	0.85682	N	0.000000	T	0.67183	0.2866	M	0.79258	2.445	0.49687	D	0.999811	P;P	0.46859	0.885;0.73	P;P	0.49477	0.612;0.544	T	0.69518	-0.5124	8	0.52906	T	0.07	.	18.1573	0.89696	0.0:1.0:0.0:0.0	.	98;110	B7Z591;Q9UM00	.;TMCO1_HUMAN	N	110;91	.	ENSP00000356856:D110N	D	-	1	0	TMCO1	163979168	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.396000	0.79891	2.894000	0.99253	0.655000	0.94253	GAT		0.378	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		T	165712544	C	T	165712544	3	4	396	1	0	0	0	0	1	0	0	0	16000	826	29	2	246	2	TMCO1	1	165712544	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	55158577	165712544	83538077	5	21870											
TOR1AIP2	163590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	179833916	179833916	+	Splice_Site	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:179833916C>A	ENST00000553856.1	-	1	395	c.396G>T	c.(394-396)taG>taT	p.*132Y	TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000609928.1_Intron	NM_022347.3	NP_071742.1	Q9H496	IFG15_HUMAN		0								p.*132Y(2)									ATTATAGAAGCTATTTGTTTT	0.363																																																2	Nonstop extension(2)	kidney(2)											85	85	85					1																	179833916		1806	4068	5874	SO:0001630	splice_region_variant	163590																														ENST00000553856.1:c.393+1G>T	1.37:g.179833916C>A			Q05BU2	Missense_Mutation	SNP	ENST00000553856.1	37	CCDS53439.1	.	.	.	.	.	.	.	.	.	.	C	6.912	0.537855	0.13188	.	.	ENSG00000258664	ENST00000553856	.	.	.	4.52	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.34494	D	0.705346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3525	0.21383	0.0:0.1116:0.0:0.8884	.	.	.	.	Y	132	.	.	X	-	3	2	AL359853.3	178100539	1.000000	0.71417	0.360000	0.25837	0.166000	0.22503	1.666000	0.37460	1.068000	0.40764	-0.302000	0.09304	TAG		0.363	IFRG15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Nonstop_Mutation	A	179833916	C	A	179833916	5	1	396	1	0	0	0	0	0	0	1	0	16378	808	28	4	1432	4	TOR1AIP2	1	179833916	Splice_Site	SNP	C	TCGA-BP-4985-01A-01D-1462-08	14121372	179833916	69416705	6	21871											
APOBEC4	403314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183617328	183617328	+	Missense_Mutation	SNP	C	C	A	rs576114883		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:183617328C>A	ENST00000308641.4	-	2	860	c.589G>T	c.(589-591)Gtt>Ttt	p.V197F	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	197					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.V197F(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						CTGTGGAGAACAGAATGCCAG	0.507																																																1	Substitution - Missense(1)	kidney(1)											63	65	64					1																	183617328		2203	4300	6503	SO:0001583	missense	403314			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.589G>T	1.37:g.183617328C>A	ENSP00000310622:p.Val197Phe		Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	C	7.565	0.665547	0.14710	.	.	ENSG00000173627	ENST00000308641	T	0.67345	-0.26	5.15	3.21	0.36854	.	0.242203	0.28225	N	0.016123	T	0.48822	0.1521	N	0.08118	0	0.26059	N	0.981374	B	0.24043	0.096	B	0.33890	0.172	T	0.49670	-0.8915	10	0.62326	D	0.03	-11.8308	10.4785	0.44678	0.0:0.2662:0.5924:0.1413	.	197	Q8WW27	ABEC4_HUMAN	F	197	ENSP00000310622:V197F	ENSP00000310622:V197F	V	-	1	0	APOBEC4	181883951	1.000000	0.71417	0.995000	0.50966	0.182000	0.23217	1.341000	0.33907	0.518000	0.28383	-0.147000	0.13772	GTT		0.507	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		A	183617328	C	A	183617328	3	1	396	1	0	0	0	0	1	0	0	0	796	478	17	4	518	4	APOBEC4	1	183617328	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	3783412	183617328	65633293	7	21872											
C1orf26	54823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	185259906	185259906	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:185259906T>C	ENST00000367500.4	+	19	2839	c.2674T>C	c.(2674-2676)Tgt>Cgt	p.C892R	SWT1_ENST00000367501.3_Missense_Mutation_p.C892R	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	892								p.C892R(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CAGGGGATGGTGTGAAGACAT	0.398																																																1	Substitution - Missense(1)	kidney(1)											95	93	94					1																	185259906		2203	4300	6503	SO:0001583	missense	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2674T>C	1.37:g.185259906T>C	ENSP00000356470:p.Cys892Arg		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968057	0.53507	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.18657	2.2;2.2	5.67	4.53	0.55603	.	0.390920	0.27513	N	0.019038	T	0.19327	0.0464	N	0.24115	0.695	0.54753	D	0.999989	P	0.51933	0.949	P	0.49752	0.621	T	0.01146	-1.1437	10	0.62326	D	0.03	.	8.7266	0.34474	0.0:0.148:0.0:0.852	.	892	Q5T5J6	SWT1_HUMAN	R	892	ENSP00000356471:C892R;ENSP00000356470:C892R	ENSP00000356470:C892R	C	+	1	0	SWT1	183526529	0.997000	0.39634	1.000000	0.80357	0.902000	0.53008	0.496000	0.22499	2.148000	0.66965	0.533000	0.62120	TGT		0.398	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		C	185259906	T	C	185259906	3	2	396	1	0	0	0	0	1	0	0	0	2037	1696	59	3	2744	3	C1orf26	1	185259906	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08	1642578	185259906	63990715	8	21873											
OR2T8	343172	broad.mit.edu	37	1	248084574	248084574	+	Silent	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:248084574C>A	ENST00000319968.4	+	1	255	c.255C>A	c.(253-255)acC>acA	p.T85T		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T85T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACTACTTGACCGGAAGTAAGG	0.582																																																1	Substitution - coding silent(1)	kidney(1)											32	32	32					1																	248084574		2161	4228	6389	SO:0001819	synonymous_variant	343172				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.255C>A	1.37:g.248084574C>A				Silent	SNP	ENST00000319968.4	37	CCDS31100.1																																																																																				0.582	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		A	248084574	C	A	248084574	2	1	396	1	0	0	0	0	0	0	0	1	11032	639	23	4		4	OR2T8	1	248084574	Silent	SNP	C	TCGA-BP-4985-01A-01D-1462-08	62824668	248084574	1166047	9	21874											
OR2T33	391195	broad.mit.edu;hgsc.bcm.edu	37	1	248436862	248436862	+	Silent	SNP	G	G	T	rs555852038	byFrequency	TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr1:248436862G>T	ENST00000318021.2	-	1	276	c.255C>A	c.(253-255)acC>acA	p.T85T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T85T(2)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTTACTTCCGGTCAAGTAGT	0.572																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											84	76	79					1																	248436862		2203	4296	6499	SO:0001819	synonymous_variant	391195				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.255C>A	1.37:g.248436862G>T			B2RNN0	Silent	SNP	ENST00000318021.2	37	CCDS31109.1																																																																																				0.572	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		T	248436862	G	T	248436862	2	4	396	1	0	0	0	0	0	0	0	1	11026	1103	39	4		4	OR2T33	1	248436862	Silent	SNP	G	TCGA-BP-4985-01A-01D-1462-08	352288	248436862	813759	10	21875											
HNRPLL	92906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	38797055	38797055	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:38797055T>C	ENST00000449105.3	-	9	1444	c.1105A>G	c.(1105-1107)Aag>Gag	p.K369E	HNRNPLL_ENST00000378915.3_Missense_Mutation_p.K335E|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.K364E|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.K335E|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.K369E			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	369	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K369E(1)									GGAATGGTCTTCATAAATTTT	0.338																																																1	Substitution - Missense(1)	kidney(1)											103	105	104					2																	38797055		2203	4298	6501	SO:0001583	missense	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.1105A>G	2.37:g.38797055T>C	ENSP00000390625:p.Lys369Glu		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37		.	.	.	.	.	.	.	.	.	.	T	27.5	4.834528	0.91036	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328	.	.	.	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	L	0.58583	1.82	0.80722	D	1	D;D;P	0.57257	0.979;0.979;0.701	D;D;B	0.67548	0.952;0.952;0.322	T	0.74478	-0.3652	9	0.41790	T	0.15	-15.0018	16.1668	0.81768	0.0:0.0:0.0:1.0	.	364;369;369	C9J9G0;D6W592;Q8WVV9	.;.;HNRLL_HUMAN	E	369;364;335;335	.	ENSP00000368195:K335E	K	-	1	0	HNRPLL	38650559	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.930000	0.87610	2.210000	0.71456	0.533000	0.62120	AAG		0.338	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		C	38797055	T	C	38797055	3	2	396	1	0	0	0	0	1	0	0	0	7279	1792	62	3	543	3	HNRPLL	2	38797055	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08		38797055	204402318	11	21876											
SOS1	6654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39250293	39250293	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:39250293G>T	ENST00000426016.1	-	11	1362	c.1276C>A	c.(1276-1278)Cag>Aag	p.Q426K	SOS1_ENST00000428721.2_3'UTR|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.Q426K|SOS1_ENST00000395038.2_Missense_Mutation_p.Q426K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	426					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q426K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATATTCTTCTGAATCTCGTTC	0.373									Noonan syndrome																																							1	Substitution - Missense(1)	kidney(1)											101	89	94					2																	39250293		2203	4300	6503	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1276C>A	2.37:g.39250293G>T	ENSP00000387784:p.Gln426Lys		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547701	0.86022	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.90732	-2.72;-2.72;-2.72	5.52	5.52	0.82312	Dbl homology (DH) domain (1);	0.059390	0.64402	D	0.000001	D	0.92044	0.7479	M	0.77313	2.365	0.80722	D	1	P;P	0.44877	0.819;0.845	B;B	0.42995	0.313;0.404	D	0.93031	0.6448	10	0.87932	D	0	.	19.7999	0.96502	0.0:0.0:1.0:0.0	.	158;426	F5GX06;Q07889	.;SOS1_HUMAN	K	426;426;158;426;426	ENSP00000387784:Q426K;ENSP00000384675:Q426K;ENSP00000378479:Q426K	ENSP00000263879:Q426K	Q	-	1	0	SOS1	39103797	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.672000	0.98629	2.753000	0.94483	0.557000	0.71058	CAG		0.373	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		T	39250293	G	T	39250293	3	4	396	1	0	0	0	0	1	0	0	0	14942	1299	45	4	2781	4	SOS1	2	39250293	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	453238	39250293	203949080	12	21877											
FAM136A	84908	broad.mit.edu;hgsc.bcm.edu	37	2	70529085	70529085	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:70529085A>T	ENST00000037869.3	-	1	137	c.59T>A	c.(58-60)cTg>cAg	p.L20Q	FAM136A_ENST00000430566.1_Missense_Mutation_p.L20Q|FAM136A_ENST00000450256.1_Missense_Mutation_p.L20Q|AC022201.5_ENST00000445084.1_RNA	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	20						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.L20Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CTCTCTTTCCAGACTCTTCAC	0.701											OREG0014676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											60	50	53					2																	70529085		2202	4299	6501	SO:0001583	missense	84908			BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"hypothetical protein FLJ14668"					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.59T>A	2.37:g.70529085A>T	ENSP00000037869:p.Leu20Gln	1123	Q96SS3	Missense_Mutation	SNP	ENST00000037869.3	37	CCDS1904.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223721	0.58668	.	.	ENSG00000035141	ENST00000037869;ENST00000450256;ENST00000430566;ENST00000438759	.	.	.	3.81	3.81	0.43845	.	0.077467	0.53938	D	0.000053	T	0.73560	0.3602	M	0.88310	2.945	0.28499	N	0.914084	D	0.69078	0.997	D	0.69142	0.962	T	0.70846	-0.4761	9	0.87932	D	0	.	11.798	0.52110	1.0:0.0:0.0:0.0	.	20	Q96C01	F136A_HUMAN	Q	20;20;20;5	.	ENSP00000037869:L20Q	L	-	2	0	FAM136A	70382589	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	7.793000	0.85851	1.724000	0.51502	0.164000	0.16699	CTG		0.701	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822		T	70529085	A	T	70529085	3	4	396	1	0	0	0	0	1	0	0	0	5452	188	7	5	369	5	FAM136A	2	70529085	Missense_Mutation	SNP	A	TCGA-BP-4985-01A-01D-1462-08	31278792	70529085	172670288	13	21878											
CTNNA2	1496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	80874879	80874879	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:80874879C>A	ENST00000402739.4	+	18	2749	c.2744C>A	c.(2743-2745)cCc>cAc	p.P915H	CTNNA2_ENST00000496558.1_Missense_Mutation_p.P867H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P822H|CTNNA2_ENST00000466387.1_Missense_Mutation_p.P867H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P901H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P867H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P546H	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	915					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.P867H(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGAAGAAGCCCCTTGTGAAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											154	155	155					2																	80874879		1879	4122	6001	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2744C>A	2.37:g.80874879C>A	ENSP00000384638:p.Pro915His		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.379410	0.82682	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.48201	0.96;0.96;0.93;0.82;0.96;0.84;2.19	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.68439	-0.5408	9	.	.	.	.	20.3658	0.98878	0.0:1.0:0.0:0.0	.	499;915;822;867	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	H	867;867;901;915;867;822;546	ENSP00000418191:P867H;ENSP00000419295:P867H;ENSP00000355398:P901H;ENSP00000384638:P915H;ENSP00000444675:P867H;ENSP00000441705:P822H;ENSP00000341500:P546H	.	P	+	2	0	CTNNA2	80728390	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	CCC		0.468	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		A	80874879	C	A	80874879	3	1	396	1	0	0	0	0	1	0	0	0	4015	623	22	4	2458	4	CTNNA2	2	80874879	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	10345794	80874879	162324494	14	21879											
RANBP2	5903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109379898	109379898	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:109379898A>G	ENST00000283195.6	+	20	3029	c.2903A>G	c.(2902-2904)cAg>cGg	p.Q968R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	968					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q968R(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AATGTTCAACAGACAAGCACA	0.428																																																2	Substitution - Missense(2)	kidney(2)											101	101	101					2																	109379898		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2903A>G	2.37:g.109379898A>G	ENSP00000283195:p.Gln968Arg		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.083292	0.36758	.	.	ENSG00000153201	ENST00000283195	T	0.26067	1.76	5.19	5.19	0.71726	.	.	.	.	.	T	0.36441	0.0967	L	0.32530	0.975	0.30701	N	0.750247	D	0.76494	0.999	D	0.63488	0.915	T	0.27400	-1.0075	9	0.54805	T	0.06	-11.3489	11.3691	0.49690	0.8485:0.1515:0.0:0.0	.	968	P49792	RBP2_HUMAN	R	968	ENSP00000283195:Q968R	ENSP00000283195:Q968R	Q	+	2	0	RANBP2	108746330	1.000000	0.71417	0.987000	0.45799	0.900000	0.52787	3.740000	0.55082	2.078000	0.62432	0.460000	0.39030	CAG		0.428	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109379898	A	G	109379898	3	3	396	1	0	0	0	0	1	0	0	0	13034	188	7	3	2981	3	RANBP2	2	109379898	Missense_Mutation	SNP	A	TCGA-BP-4985-01A-01D-1462-08	28505019	109379898	133819475	15	21880											
RIF1	55183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152318926	152318927	+	Splice_Site	DNP	GG	GG	TA			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:152318926_152318927GG>TA	ENST00000243326.5	+	28	3792_3793	c.3309_3310GG>TA	c.(3307-3312)atGGaa>atTAaa	p.1103_1104ME>IK	RIF1_ENST00000453091.2_Splice_Site_p.1103_1104ME>IK|RIF1_ENST00000428287.2_Splice_Site_p.1103_1104ME>IK|RIF1_ENST00000444746.2_Splice_Site_p.1103_1104ME>IK|RIF1_ENST00000430328.2_Splice_Site_p.1103_1104ME>IK			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.E1104K(1)|p.M1103>?(1)|p.M1103I(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		tttatttCAGGGAAATTCCTAC	0.287																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001630	splice_region_variant	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	Exception_encountered	2.37:g.152318926_152318927delinsTA			A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1																																																																																				0.287	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		Missense_Mutation	TA	152318927	GG	TA	152318926	5	4	396	1	0	0	0	0	0	0	1	0	13365	1246	43	4	3419	4	RIF1	2	152318926	Splice_Site	DNP	GG	TCGA-BP-4985-01A-01D-1462-08	42939028	152318926	90880447	16	21881											
TM4SF20	79853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228228665	228228665	+	Silent	SNP	A	A	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:228228665A>T	ENST00000304568.3	-	4	502	c.465T>A	c.(463-465)acT>acA	p.T155T		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T155T(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TATTGAAACCAGTAGGAGGTG	0.398																																																1	Substitution - coding silent(1)	kidney(1)											81	76	78					2																	228228665		2203	4300	6503	SO:0001819	synonymous_variant	79853			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.465T>A	2.37:g.228228665A>T			B2RP42|Q5U609|Q6UWS1|Q9H5X9	Silent	SNP	ENST00000304568.3	37	CCDS2466.1																																																																																				0.398	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		T	228228665	A	T	228228665	2	4	396	1	0	0	0	0	0	0	0	1	15974	175	7	5		5	TM4SF20	2	228228665	Silent	SNP	A	TCGA-BP-4985-01A-01D-1462-08	75909739	228228665	14970708	17	21882											
IQCA1	79781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	237300665	237300665	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr2:237300665T>G	ENST00000409907.3	-	11	1641	c.1367A>C	c.(1366-1368)gAc>gCc	p.D456A	AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000431676.2_Missense_Mutation_p.D415A|IQCA1_ENST00000465621.1_5'Flank|IQCA1_ENST00000309507.5_Missense_Mutation_p.D452A	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	456	Lys-rich.						ATP binding (GO:0005524)	p.D463A(1)|p.D456A(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CCTTTCTCTGTCCACAGCTAG	0.458																																																2	Substitution - Missense(2)	kidney(2)											180	185	183					2																	237300665		1882	4111	5993	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1367A>C	2.37:g.237300665T>G	ENSP00000387347:p.Asp456Ala		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.838894	0.51057	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.94184	-3.28;-3.27;-3.37	5.45	5.45	0.79879	.	0.328665	0.26217	N	0.025643	D	0.93739	0.7999	L	0.46947	1.48	0.37210	D	0.904774	P;D;P	0.54964	0.826;0.969;0.558	B;P;B	0.58172	0.303;0.834;0.314	D	0.93602	0.6931	10	0.27082	T	0.32	.	13.7718	0.63029	0.0:0.0:0.0:1.0	.	415;463;456	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	A	456;463;452;415;452	ENSP00000387347:D456A;ENSP00000311951:D452A;ENSP00000407213:D415A	ENSP00000254653:D456A	D	-	2	0	IQCA1	236965404	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.351000	0.59398	2.064000	0.61679	0.533000	0.62120	GAC		0.458	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		G	237300665	T	G	237300665	3	3	396	1	0	0	0	0	1	0	0	0	7804	1667	58	5	1137	5	IQCA1	2	237300665	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08	9072000	237300665	5898708	18	21883											
CLASP2	23122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33648252	33648252	+	Splice_Site	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:33648252T>C	ENST00000468888.2	-	16	1576		c.e16-2		CLASP2_ENST00000313350.6_Splice_Site|CLASP2_ENST00000399362.4_Splice_Site|CLASP2_ENST00000359576.5_Splice_Site|CLASP2_ENST00000487200.1_Splice_Site|CLASP2_ENST00000333778.6_Splice_Site|CLASP2_ENST00000539981.1_Splice_Site|CLASP2_ENST00000307312.7_Splice_Site|CLASP2_ENST00000461133.3_Splice_Site|CLASP2_ENST00000480013.1_Splice_Site			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2						axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATGTATGTCCTGTTAAAAAAA	0.343																																																2	Unknown(2)	kidney(2)											101	99	100					3																	33648252		1832	4078	5910	SO:0001630	splice_region_variant	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1530-2A>G	3.37:g.33648252T>C			Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Splice_Site	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	T	21.8	4.206931	0.79127	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0894	0.72180	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLASP2	33623256	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.698000	0.84413	2.022000	0.59522	0.533000	0.62120	.		0.343	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	Intron	C	33648252	T	C	33648252	5	2	396	1	0	0	0	0	0	0	1	0	3457	1594	55	3	3087	3	CLASP2	3	33648252	Splice_Site	SNP	T	TCGA-BP-4985-01A-01D-1462-08		33648252	164374178	19	21884											
MAP4	4134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47912403	47912403	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:47912403A>T	ENST00000360240.6	-	13	3277	c.2759T>A	c.(2758-2760)cTc>cAc	p.L920H	MAP4_ENST00000441748.2_Missense_Mutation_p.L72H|MAP4_ENST00000264724.11_Missense_Mutation_p.L655H|MAP4_ENST00000426837.2_Missense_Mutation_p.L2065H|MAP4_ENST00000383737.4_Missense_Mutation_p.L648H|MAP4_ENST00000420772.2_Missense_Mutation_p.L651H|MAP4_ENST00000395734.3_Missense_Mutation_p.L920H|MAP4_ENST00000462206.1_5'Flank	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	920					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.L920H(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CAGGCGGCTGAGCCGGGGGGT	0.612																																																2	Substitution - Missense(2)	kidney(2)											58	67	64					3																	47912403		2203	4300	6503	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2759T>A	3.37:g.47912403A>T	ENSP00000353375:p.Leu920His		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.549750	0.65311	.	.	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748;ENST00000383736	T;T;T;T;T;T;T;T	0.32023	3.04;1.47;3.19;3.21;3.17;2.22;2.18;1.5	5.13	1.49	0.22878	.	.	.	.	.	T	0.40979	0.1139	L	0.42245	1.32	0.22226	N	0.999274	D;D;D;D;D;D;D	0.76494	0.994;0.999;0.999;0.992;0.999;0.993;0.994	D;D;D;P;D;P;D	0.71414	0.973;0.973;0.967;0.827;0.94;0.628;0.971	T	0.14117	-1.0484	9	0.42905	T	0.14	0.0955	6.9394	0.24484	0.6434:0.0:0.3565:0.0	.	651;655;920;920;655;648;2065	F8W9U4;P27816-4;P27816-6;P27816;E9PGM5;B9ZVR1;E7EVA0	.;.;.;MAP4_HUMAN;.;.;.	H	648;655;920;2065;920;651;286;72;655	ENSP00000373243:L648H;ENSP00000264724:L655H;ENSP00000379083:L920H;ENSP00000407602:L2065H;ENSP00000353375:L920H;ENSP00000409731:L651H;ENSP00000334770:L286H;ENSP00000415130:L72H	ENSP00000264724:L655H	L	-	2	0	MAP4	47887407	0.144000	0.22641	0.995000	0.50966	0.843000	0.47879	0.098000	0.15189	0.436000	0.26393	0.533000	0.62120	CTC		0.612	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		T	47912403	A	T	47912403	3	4	396	1	0	0	0	0	1	0	0	0	9260	304	11	5	878	5	MAP4	3	47912403	Missense_Mutation	SNP	A	TCGA-BP-4985-01A-01D-1462-08	14264151	47912403	150110027	20	21885											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52623110	52623110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:52623110C>A	ENST00000296302.7	-	18	2942	c.2941G>T	c.(2941-2943)Gaa>Taa	p.E981*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E981*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E996*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E981*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E996*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E981*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E949*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E981*			Q86U86	PB1_HUMAN	polybromo 1	981	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E981*(2)|p.E949*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CACAGTCTTTCAATACAGACG	0.428			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											153	149	150					3																	52623110		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2941G>T	3.37:g.52623110C>A	ENSP00000296302:p.Glu981*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	41	8.705818	0.98922	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.8903	0.92397	0.0:1.0:0.0:0.0	.	.	.	.	X	949;981;981;981;981;981;996;996;980;939	.	ENSP00000296302:E981X	E	-	1	0	PBRM1	52598150	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.757000	0.85209	2.448000	0.82819	0.591000	0.81541	GAA		0.428	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52623110	C	A	52623110	4	1	396	1	0	0	0	0	0	1	0	0	11493	835	29	4	2011	4	PBRM1	3	52623110	Nonsense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	4710707	52623110	145399320	21	21886											
PARP14	54625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122433220	122433220	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:122433220T>C	ENST00000474629.2	+	12	4210	c.3944T>C	c.(3943-3945)tTg>tCg	p.L1315S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1315	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L1315S(1)|p.L1152S(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCCTCTGTTTTGCAGGAGTGT	0.408																																																2	Substitution - Missense(2)	kidney(2)											63	60	61					3																	122433220		1870	4100	5970	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3944T>C	3.37:g.122433220T>C	ENSP00000418194:p.Leu1315Ser		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898135	0.72639	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.37411	1.2	5.51	5.51	0.81932	Appr-1-p processing (3);	0.000000	0.53938	D	0.000048	T	0.71813	0.3384	H	0.96301	3.8	0.48762	D	0.999702	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81466	-0.0920	10	0.87932	D	0	.	14.5968	0.68413	0.0:0.0:0.0:1.0	.	1315;1315	Q460N5-4;Q460N5	.;PAR14_HUMAN	S	1315;1234;311	ENSP00000418194:L1315S	ENSP00000381224:L311S	L	+	2	0	PARP14	123915910	1.000000	0.71417	0.995000	0.50966	0.832000	0.47134	6.254000	0.72460	2.317000	0.78254	0.459000	0.35465	TTG		0.408	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		C	122433220	T	C	122433220	3	2	396	1	0	0	0	0	1	0	0	0	11460	1821	63	3	3990	3	PARP14	3	122433220	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08	69810110	122433220	75589210	22	21887											
IL1RAP	3556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	190366339	190366339	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:190366339G>A	ENST00000412504.2	+	11	1810	c.1558G>A	c.(1558-1560)Gtg>Atg	p.V520M	IL1RAP_ENST00000072516.3_Missense_Mutation_p.V520M|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.V520M|IL1RAP_ENST00000439062.1_Missense_Mutation_p.V520M			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	520	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)	p.V520M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GGCTAAGACGGTGCTCACGGT	0.488																																																1	Substitution - Missense(1)	kidney(1)											104	105	104					3																	190366339		2203	4300	6503	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1558G>A	3.37:g.190366339G>A	ENSP00000412053:p.Val520Met		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093537	0.76756	.	.	ENSG00000196083	ENST00000072516;ENST00000412504;ENST00000439062;ENST00000447382	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	6.03	5.15	0.70609	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.900963	0.09430	N	0.803149	T	0.19685	0.0473	L	0.33485	1.01	0.32573	N	0.529534	D	0.55385	0.971	P	0.62491	0.903	T	0.12915	-1.0529	10	0.36615	T	0.2	.	15.7602	0.78073	0.0:0.0:0.8627:0.1373	.	520	Q9NPH3	IL1AP_HUMAN	M	520	ENSP00000072516:V520M;ENSP00000412053:V520M;ENSP00000401132:V520M;ENSP00000390541:V520M	ENSP00000072516:V520M	V	+	1	0	IL1RAP	191849033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.540000	0.49301	0.557000	0.71058	GTG		0.488	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			A	190366339	G	A	190366339	3	1	396	1	0	0	0	0	1	0	0	0	7662	1261	44	2	1616	2	IL1RAP	3	190366339	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	67933119	190366339	7656091	23	21888											
ATP13A3	79572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	194177901	194177901	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr3:194177901C>T	ENST00000439040.1	-	7	1273	c.482G>A	c.(481-483)gGa>gAa	p.G161E	ATP13A3_ENST00000256031.4_Missense_Mutation_p.G161E			Q9H7F0	AT133_HUMAN	ATPase type 13A3	161						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.G161E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTCATCCAGTCCCCTAAATAA	0.333																																																1	Substitution - Missense(1)	kidney(1)											102	98	99					3																	194177901		1819	4069	5888	SO:0001583	missense	79572			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.482G>A	3.37:g.194177901C>T	ENSP00000416508:p.Gly161Glu		Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520863	0.64747	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.86030	-2.06;-2.06	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.85758	0.5771	M	0.66297	2.02	0.80722	D	1	P	0.46912	0.886	B	0.43194	0.411	D	0.83827	0.0250	10	0.26408	T	0.33	-13.622	19.8965	0.96963	0.0:1.0:0.0:0.0	.	161	Q9H7F0	AT133_HUMAN	E	161	ENSP00000416508:G161E;ENSP00000256031:G161E	ENSP00000256031:G161E	G	-	2	0	ATP13A3	195659190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.442000	0.73443	2.717000	0.92951	0.655000	0.94253	GGA		0.333	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		T	194177901	C	T	194177901	3	4	396	1	0	0	0	0	1	0	0	0	1125	855	30	2	3306	2	ATP13A3	3	194177901	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	3811562	194177901	3844529	24	21889											
ZNF141	7700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	367443	367443	+	Missense_Mutation	SNP	G	G	A	rs201015672		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:367443G>A	ENST00000240499.7	+	4	1366	c.1217G>A	c.(1216-1218)cGg>cAg	p.R406Q	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	406					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R406Q(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						GCCTTTAGACGGTCCACAGAT	0.403																																																1	Substitution - Missense(1)	kidney(1)											72	78	76					4																	367443		2203	4300	6503	SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1217G>A	4.37:g.367443G>A	ENSP00000240499:p.Arg406Gln		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	G	7.503	0.652978	0.14580	.	.	ENSG00000131127	ENST00000240499	T	0.07567	3.18	1.24	-2.11	0.07187	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.11023	0.085	0.09310	N	1	B	0.31730	0.337	B	0.17433	0.018	T	0.43360	-0.9396	8	.	.	.	.	1.9778	0.03419	0.469:0.0:0.2655:0.2654	.	406	Q15928	ZN141_HUMAN	Q	406	ENSP00000240499:R406Q	.	R	+	2	0	ZNF141	357443	0.000000	0.05858	0.089000	0.20774	0.970000	0.65996	0.358000	0.20216	-0.228000	0.09869	0.313000	0.20887	CGG		0.403	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		A	367443	G	A	367443	3	1	396	1	0	0	0	0	1	0	0	0	17735	1116	39	1	1231	1	ZNF141	4	367443	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08		367443	190786833	25	21890											
HTT	3064	broad.mit.edu;ucsc.edu	37	4	3208562	3208562	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:3208562G>T	ENST00000355072.5	+	44	6072	c.5927G>T	c.(5926-5928)tGc>tTc	p.C1976F		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1976					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.C1976F(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACTCTTCAGTGCTTGGAGGGG	0.458																																																1	Substitution - Missense(1)	kidney(1)											80	77	78					4																	3208562		1928	4146	6074	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5927G>T	4.37:g.3208562G>T	ENSP00000347184:p.Cys1976Phe		Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742150	0.49151	.	.	ENSG00000197386	ENST00000355072	T	0.07800	3.16	5.45	4.6	0.57074	.	0.094739	0.85682	D	0.000000	T	0.28665	0.0710	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.04017	-1.0984	10	0.87932	D	0	.	15.8943	0.79323	0.0:0.0:0.8634:0.1366	.	1976	P42858	HD_HUMAN	F	1976	ENSP00000347184:C1976F	ENSP00000347184:C1976F	C	+	2	0	HTT	3178360	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	9.724000	0.98775	1.416000	0.47057	-0.182000	0.12963	TGC		0.458	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		T	3208562	G	T	3208562	3	4	396	1	0	0	0	0	1	0	0	0	7459	1319	46	4	6101	4	HTT	4	3208562	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	2841119	3208562	187945714	26	21891											
GABRG1	2565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	46060386	46060386	+	Splice_Site	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:46060386C>T	ENST00000295452.4	-	7	931	c.764G>A	c.(763-765)gGg>gAg	p.G255E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	255					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G255E(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACATAATCCCCTGTAAGAAA	0.279																																																1	Substitution - Missense(1)	kidney(1)											73	77	76					4																	46060386		2203	4299	6502	SO:0001630	splice_region_variant	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.764-1G>A	4.37:g.46060386C>T			Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825871	0.90955	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.79454	-1.27	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92218	0.7532	H	0.96916	3.905	0.58432	D	0.999999	D	0.63046	0.992	D	0.65874	0.939	D	0.94194	0.7444	10	0.87932	D	0	.	19.1446	0.93459	0.0:1.0:0.0:0.0	.	255	Q8N1C3	GBRG1_HUMAN	E	255	ENSP00000295452:G255E	ENSP00000295452:G255E	G	-	2	0	GABRG1	45755143	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.705000	0.84606	2.771000	0.95319	0.644000	0.83932	GGG		0.279	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	Missense_Mutation	T	46060386	C	T	46060386	5	4	396	1	0	0	0	0	0	0	1	0	6173	637	22	2	645	2	GABRG1	4	46060386	Splice_Site	SNP	C	TCGA-BP-4985-01A-01D-1462-08	42851824	46060386	145093890	27	21892											
UGT2B7	7364	hgsc.bcm.edu;ucsc.edu	37	4	69962480	69962483	+	Frame_Shift_Del	DEL	TAAC	TAAC	-			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	TAAC	TAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:69962480_69962483delTAAC	ENST00000508661.1	+	1	269_272	c.242_245delTAAC	c.(241-246)ttaactfs	p.LT81fs	UGT2B7_ENST00000305231.7_Frame_Shift_Del_p.LT81fs|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	81					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCCACATCTTTAACTAAAACTGAG	0.368																																																0																																										SO:0001589	frameshift_variant	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.242_245delTAAC	4.37:g.69962480_69962483delTAAC	ENSP00000427659:p.Leu81fs		B2R810|Q6GTW0	Frame_Shift_Del	DEL	ENST00000508661.1	37																																																																																					0.368	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		-	69962483	TAAC	-	69962480	7	5	396	1	0	1	0	1	0	0	0	0	16967	1764	61	0	244	0	UGT2B7	4	69962480	Frame_Shift_Del	DEL	TAAC	TCGA-BP-4985-01A-01D-1462-08	23902094	69962480	121191796	28	21893											
AGXT2L1	64850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	109669293	109669293	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:109669293C>G	ENST00000296486.3	-	9	1104	c.950G>C	c.(949-951)tGt>tCt	p.C317S	ETNPPL_ENST00000510706.1_Missense_Mutation_p.C277S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.C259S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.C311S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	317						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.C317S(1)									ACCAACAGCACAAGATACTGG	0.363																																																1	Substitution - Missense(1)	kidney(1)											92	87	89					4																	109669293		2203	4300	6503	SO:0001583	missense	64850			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.950G>C	4.37:g.109669293C>G	ENSP00000296486:p.Cys317Ser		B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337629	0.60963	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.54	4.7	0.59300	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.138755	0.64402	N	0.000002	T	0.57286	0.2043	M	0.76838	2.35	0.80722	D	1	B;B;B	0.20550	0.013;0.01;0.046	B;B;B	0.37943	0.191;0.098;0.261	T	0.56092	-0.8036	9	.	.	.	-4.7763	14.9163	0.70801	0.0:0.8018:0.1982:0.0	.	259;311;317	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	S	317;311;259;277	ENSP00000296486:C317S;ENSP00000392269:C311S;ENSP00000427065:C259S;ENSP00000423240:C277S	.	C	-	2	0	AGXT2L1	109888742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.267000	0.72546	1.492000	0.48499	0.655000	0.94253	TGT		0.363	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		G	109669293	C	G	109669293	3	3	396	1	0	0	0	0	1	0	0	0	406	478	17	4	569	4	AGXT2L1	4	109669293	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	39706813	109669293	81484983	29	21894											
C4orf27	54969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	170663225	170663225	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr4:170663225C>T	ENST00000393381.2	-	5	606	c.531G>A	c.(529-531)acG>acA	p.T177T		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	177						nucleus (GO:0005634)		p.T177T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TCTTTTTATCCGTTATTTCTC	0.363																																																1	Substitution - coding silent(1)	kidney(1)											111	102	105					4																	170663225		2202	4300	6502	SO:0001819	synonymous_variant	54969			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.531G>A	4.37:g.170663225C>T				Silent	SNP	ENST00000393381.2	37	CCDS3813.1																																																																																				0.363	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		T	170663225	C	T	170663225	2	4	396	1	0	0	0	0	0	0	0	1	2260	639	23	1		1	C4orf27	4	170663225	Silent	SNP	C	TCGA-BP-4985-01A-01D-1462-08	60993932	170663225	20491051	30	21895											
C5orf42	65250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37165738	37165738	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr5:37165738T>C	ENST00000508244.1	-	35	7529	c.7436A>G	c.(7435-7437)aAa>aGa	p.K2479R	C5orf42_ENST00000274258.7_Missense_Mutation_p.K1359R|C5orf42_ENST00000425232.2_Missense_Mutation_p.K2479R			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2479						integral component of membrane (GO:0016021)		p.K2479R(1)|p.K1359R(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTCACATCTTTTTTCTTGCAG	0.318																																																2	Substitution - Missense(2)	kidney(2)											117	106	110					5																	37165738		2202	4300	6502	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7436A>G	5.37:g.37165738T>C	ENSP00000421690:p.Lys2479Arg		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	7.086	0.571177	0.13623	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26223	1.75;1.75;1.76;1.75	5.58	0.456	0.16655	.	0.971984	0.08433	N	0.946636	T	0.18002	0.0432	L	0.36672	1.1	0.09310	N	1	B;B	0.17667	0.012;0.023	B;B	0.18871	0.016;0.023	T	0.32745	-0.9895	10	0.31617	T	0.26	.	4.552	0.12117	0.0:0.25:0.157:0.593	.	2479;1359	E9PH94;Q9H799	.;CE042_HUMAN	R	2479;2479;1359;1527;1359	ENSP00000421690:K2479R;ENSP00000389014:K2479R;ENSP00000274258:K1359R;ENSP00000424223:K1527R	ENSP00000274258:K1359R	K	-	2	0	C5orf42	37201495	0.000000	0.05858	0.002000	0.10522	0.213000	0.24496	0.100000	0.15231	-0.136000	0.11475	0.460000	0.39030	AAA		0.318	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		C	37165738	T	C	37165738	3	2	396	1	0	0	0	0	1	0	0	0	2303	1841	64	3	2225	3	C5orf42	5	37165738	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08		37165738	143749522	31	21896											
PCDHB11	56125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140579545	140579545	+	Silent	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr5:140579545G>C	ENST00000354757.3	+	1	198	c.198G>C	c.(196-198)gtG>gtC	p.V66V	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V66V(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCTCGGGTGGTCTCTAATG	0.517																																																1	Substitution - coding silent(1)	kidney(1)											94	105	102					5																	140579545		2203	4300	6503	SO:0001819	synonymous_variant	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.198G>C	5.37:g.140579545G>C			B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	CCDS4253.1																																																																																				0.517	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		C	140579545	G	C	140579545	2	2	396	1	0	0	0	0	0	0	0	1	11538	1335	47	4		4	PCDHB11	5	140579545	Silent	SNP	G	TCGA-BP-4985-01A-01D-1462-08	103413807	140579545	40335715	32	21897											
LARS	51520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145524053	145524053	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr5:145524053C>T	ENST00000394434.2	-	17	1803	c.1637G>A	c.(1636-1638)tGc>tAc	p.C546Y	LARS_ENST00000545646.1_Missense_Mutation_p.C500Y|LARS_ENST00000510191.1_Missense_Mutation_p.C492Y|LARS_ENST00000274562.9_Missense_Mutation_p.C519Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	546					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.C546Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GTTCTTCAAGCACTGAGATGT	0.363																																																1	Substitution - Missense(1)	kidney(1)											165	157	160					5																	145524053		2203	4300	6503	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1637G>A	5.37:g.145524053C>T	ENSP00000377954:p.Cys546Tyr		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811307	0.32053	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.3	4.41	0.53225	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.260691	0.45361	D	0.000364	T	0.72269	0.3439	L	0.51853	1.615	0.39231	D	0.963679	B;D;B	0.54964	0.03;0.969;0.06	B;P;B	0.47827	0.026;0.558;0.026	T	0.70676	-0.4806	10	0.13108	T	0.6	-10.3869	16.1065	0.81225	0.0:0.8659:0.1341:0.0	.	519;500;546	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	Y	546;500;492;519	ENSP00000377954:C546Y;ENSP00000437791:C500Y;ENSP00000426005:C492Y;ENSP00000274562:C519Y	ENSP00000274562:C519Y	C	-	2	0	LARS	145504246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.169000	0.42434	1.332000	0.45431	0.491000	0.48974	TGC		0.363	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		T	145524053	C	T	145524053	3	4	396	1	0	0	0	0	1	0	0	0	8636	710	25	2	1957	2	LARS	5	145524053	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	4944508	145524053	35391207	33	21898											
TNXB	7148	broad.mit.edu;hgsc.bcm.edu	37	6	32047063	32047063	+	Silent	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr6:32047063G>A	ENST00000375244.3	-	11	4323	c.4122C>T	c.(4120-4122)ctC>ctT	p.L1374L	RNA5SP206_ENST00000516703.1_RNA|TNXB_ENST00000375247.2_Silent_p.L1374L			P22105	TENX_HUMAN	tenascin XB	1461	Fibronectin type-III 6. {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)	p.L1374L(1)|p.L1461L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTCCCCCAGGAGCGGCTCCT	0.637																																																2	Substitution - coding silent(2)	kidney(2)											59	66	64					6																	32047063		1184	2504	3688	SO:0001819	synonymous_variant	7148			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.4122C>T	6.37:g.32047063G>A			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																					0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32047063	G	A	32047063	2	1	396	1	0	0	0	0	0	0	0	1	16351	1161	41	2		2	TNXB	6	32047063	Silent	SNP	G	TCGA-BP-4985-01A-01D-1462-08		32047063	139068004	34	21899											
TCTE1	202500	broad.mit.edu;hgsc.bcm.edu	37	6	44255550	44255550	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr6:44255550C>T	ENST00000371505.4	-	2	135	c.13G>A	c.(13-15)Gta>Ata	p.V5I	TCTE1_ENST00000371504.1_5'Flank|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	5								p.V5I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATGTCGTTACGGTATCCTGC	0.562																																																1	Substitution - Missense(1)	kidney(1)											119	83	95					6																	44255550		2203	4300	6503	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.13G>A	6.37:g.44255550C>T	ENSP00000360560:p.Val5Ile		B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	3.619	-0.077965	0.07184	.	.	ENSG00000146221	ENST00000371505	T	0.20332	2.08	3.53	-6.93	0.01638	.	3.267970	0.01300	N	0.010274	T	0.02380	0.0073	N	0.22421	0.69	0.09310	N	0.999999	B	0.24368	0.102	B	0.10450	0.005	T	0.24548	-1.0157	10	0.15066	T	0.55	5.2089	2.1447	0.03784	0.3373:0.3573:0.1923:0.1131	.	5	Q5JU00	TCTE1_HUMAN	I	5	ENSP00000360560:V5I	ENSP00000360560:V5I	V	-	1	0	TCTE1	44363528	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.416000	0.02467	-1.850000	0.01169	-0.518000	0.04402	GTA		0.562	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		T	44255550	C	T	44255550	3	4	396	1	0	0	0	0	1	0	0	0	15722	536	19	1	1508	1	TCTE1	6	44255550	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	12208487	44255550	126859517	35	21900											
ELOVL4	6785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	80635976	80635976	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr6:80635976T>A	ENST00000369816.4	-	2	523	c.223A>T	c.(223-225)Atg>Ttg	p.M75L		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	75					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.M75L(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	ACTAGACGCATCTGAAAAGGT	0.388																																																1	Substitution - Missense(1)	kidney(1)											89	77	81					6																	80635976		2203	4300	6503	SO:0001583	missense	6785			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"cancer/testis antigen 118"	605512	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.223A>T	6.37:g.80635976T>A	ENSP00000358831:p.Met75Leu		B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	T	5.704	0.314403	0.10789	.	.	ENSG00000118402	ENST00000369816	T	0.13538	2.58	5.85	5.85	0.93711	.	0.044040	0.85682	D	0.000000	T	0.00552	0.0018	N	0.00020	-2.78	0.38604	D	0.950746	B	0.02656	0.0	B	0.04013	0.001	T	0.50004	-0.8878	10	0.02654	T	1	-31.7672	9.4335	0.38624	0.2489:0.0:0.0:0.7511	.	75	Q9GZR5	ELOV4_HUMAN	L	75	ENSP00000358831:M75L	ENSP00000358831:M75L	M	-	1	0	ELOVL4	80692695	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.859000	0.39418	2.222000	0.72286	0.533000	0.62120	ATG		0.388	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			A	80635976	T	A	80635976	3	1	396	1	0	0	0	0	1	0	0	0	5078	1435	50	5	741	5	ELOVL4	6	80635976	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08	36380426	80635976	90479091	36	21901											
IBTK	25998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	82925803	82925803	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr6:82925803G>A	ENST00000306270.7	-	11	2140	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	IBTK_ENST00000510291.1_Missense_Mutation_p.P531S|IBTK_ENST00000503631.1_Missense_Mutation_p.P531S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	531					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.P531S(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTTGTTTTAGGATCTGACTGC	0.348																																																1	Substitution - Missense(1)	kidney(1)											72	67	68					6																	82925803		2203	4300	6503	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1591C>T	6.37:g.82925803G>A	ENSP00000305721:p.Pro531Ser		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932379	0.92389	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.29142	1.82;1.58;1.83	6.06	6.06	0.98353	.	0.048348	0.85682	D	0.000000	T	0.48169	0.1485	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	0.961;1.0;1.0;1.0	P;D;D;D	0.91635	0.541;0.999;0.999;0.999	T	0.17018	-1.0383	10	0.15952	T	0.53	-17.1817	20.6397	0.99537	0.0:0.0:1.0:0.0	.	531;531;531;531	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	S	531	ENSP00000305721:P531S;ENSP00000422762:P531S;ENSP00000426405:P531S	ENSP00000305721:P531S	P	-	1	0	IBTK	82982522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.079000	0.94032	2.880000	0.98712	0.650000	0.86243	CCT		0.348	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		A	82925803	G	A	82925803	3	1	396	1	0	0	0	0	1	0	0	0	7478	1174	41	2	2546	2	IBTK	6	82925803	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	2289827	82925803	88189264	37	21902											
TAB2	23118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	149691195	149691195	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr6:149691195C>G	ENST00000367456.1	+	3	639	c.62C>G	c.(61-63)cCt>cGt	p.P21R	TAB2_ENST00000392282.1_Missense_Mutation_p.P21R|TAB2_ENST00000286332.5_Missense_Mutation_p.P21R|TAB2_ENST00000538427.1_Missense_Mutation_p.P21R|TAB2_ENST00000536230.1_Intron			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	21	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.P21R(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CAAAAATTCCCTGAAGTACCT	0.383																																																1	Substitution - Missense(1)	kidney(1)											138	128	132					6																	149691195		2203	4300	6503	SO:0001583	missense	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.62C>G	6.37:g.149691195C>G	ENSP00000356426:p.Pro21Arg		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043041	0.93685	.	.	ENSG00000055208	ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	D;D;D;D	0.92858	-2.63;-3.12;-3.12;-3.12	5.68	5.68	0.88126	Ubiquitin system component Cue (3);	0.046563	0.85682	D	0.000000	D	0.92469	0.7609	L	0.34521	1.04	0.80722	D	1	P	0.52577	0.954	P	0.60012	0.867	D	0.92898	0.6337	10	0.72032	D	0.01	-12.1195	20.1467	0.98079	0.0:1.0:0.0:0.0	.	21	Q9NYJ8	TAB2_HUMAN	R	21	ENSP00000376106:P21R;ENSP00000445752:P21R;ENSP00000356426:P21R;ENSP00000286332:P21R	ENSP00000286332:P21R	P	+	2	0	TAB2	149732888	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.418000	0.80167	2.838000	0.97847	0.655000	0.94253	CCT		0.383	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			G	149691195	C	G	149691195	3	3	396	1	0	0	0	0	1	0	0	0	15501	681	24	4	64	4	TAB2	6	149691195	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	66765392	149691195	21423872	38	21903											
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu	37	7	48312183	48312183	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:48312183G>A	ENST00000435803.1	+	17	2944	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	974					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E974K(1)|p.E919K(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATATATTTATGAATTATTGAA	0.294																																																2	Substitution - Missense(2)	kidney(2)											45	44	44					7																	48312183		1800	4065	5865	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2920G>A	7.37:g.48312183G>A	ENSP00000411096:p.Glu974Lys		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.727499	0.00694	.	.	ENSG00000179869	ENST00000435803	D	0.84146	-1.81	5.67	-7.69	0.01263	.	0.608667	0.14477	N	0.317184	T	0.46814	0.1412	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60031	-0.7342	10	0.02654	T	1	.	3.4868	0.07622	0.2587:0.3705:0.2774:0.0935	.	974	Q86UQ4	ABCAD_HUMAN	K	974	ENSP00000411096:E974K	ENSP00000411096:E974K	E	+	1	0	ABCA13	48282729	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.257000	0.08745	-1.076000	0.03125	0.655000	0.94253	GAA		0.294	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48312183	G	A	48312183	3	1	396	1	0	0	0	0	1	0	0	0	31	1291	45	2	2815	2	ABCA13	7	48312183	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08		48312183	110826480	39	21904											
SEMA3D	223117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	84694820	84694820	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:84694820G>C	ENST00000284136.6	-	6	681	c.638C>G	c.(637-639)aCt>aGt	p.T213S	SEMA3D_ENST00000444867.1_Missense_Mutation_p.T213S	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	213	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.T213S(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGTGAATGCAGTATCTTTGCC	0.423																																					Ovarian(63;442 1191 17318 29975 31528)											1	Substitution - Missense(1)	kidney(1)											133	116	122					7																	84694820		2203	4300	6503	SO:0001583	missense	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.638C>G	7.37:g.84694820G>C	ENSP00000284136:p.Thr213Ser		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	8.372	0.835559	0.16820	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.10860	2.83;2.83	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.045982	0.85682	D	0.000000	T	0.07324	0.0185	N	0.05608	-0.01	0.47374	D	0.999402	B;B	0.23735	0.09;0.009	B;B	0.26614	0.071;0.019	T	0.36792	-0.9733	10	0.09590	T	0.72	.	20.1739	0.98173	0.0:0.0:1.0:0.0	.	213;213	C9JYT6;O95025	.;SEM3D_HUMAN	S	213	ENSP00000284136:T213S;ENSP00000401366:T213S	ENSP00000284136:T213S	T	-	2	0	SEMA3D	84532756	1.000000	0.71417	0.152000	0.22495	0.175000	0.22909	7.223000	0.78033	2.774000	0.95407	0.585000	0.79938	ACT		0.423	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		C	84694820	G	C	84694820	3	2	396	1	0	0	0	0	1	0	0	0	14033	1029	36	4	1743	4	SEMA3D	7	84694820	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	36382637	84694820	74443843	40	21905											
IQUB	154865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123142671	123142671	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:123142671G>A	ENST00000466202.1	-	6	1579	c.1003C>T	c.(1003-1005)Cat>Tat	p.H335Y	IQUB_ENST00000434450.1_Missense_Mutation_p.H335Y|IQUB_ENST00000324698.6_Missense_Mutation_p.H335Y|IQUB_ENST00000488987.1_5'UTR	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	335					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.H335Y(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTTTGAGCATGGTATTCTGCT	0.353																																																1	Substitution - Missense(1)	kidney(1)											121	113	116					7																	123142671		2203	4300	6503	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1003C>T	7.37:g.123142671G>A	ENSP00000417769:p.His335Tyr		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996415	0.74818	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.48201	1.83;1.83;0.82	5.51	5.51	0.81932	.	0.050433	0.85682	D	0.000000	T	0.69369	0.3103	M	0.81497	2.545	0.49483	D	0.99979	D;D	0.69078	0.997;0.996	D;P	0.63033	0.91;0.816	T	0.68689	-0.5342	10	0.37606	T	0.19	.	19.427	0.94746	0.0:0.0:1.0:0.0	.	335;335	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	Y	335	ENSP00000417769:H335Y;ENSP00000324882:H335Y;ENSP00000388498:H335Y	ENSP00000324882:H335Y	H	-	1	0	IQUB	122929907	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.001000	0.70685	2.603000	0.88011	0.655000	0.94253	CAT		0.353	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		A	123142671	G	A	123142671	3	1	396	1	0	0	0	0	1	0	0	0	7822	1348	47	2	1404	2	IQUB	7	123142671	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	38447851	123142671	35995992	41	21906											
WASL	8976	broad.mit.edu;ucsc.edu	37	7	123346339	123346339	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:123346339C>G	ENST00000223023.4	-	4	760	c.428G>C	c.(427-429)aGg>aCg	p.R143T		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	143					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.R143T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCAGATTTCCTTTGTCGACG	0.353																																																1	Substitution - Missense(1)	kidney(1)											62	63	63					7																	123346339		2203	4300	6503	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.428G>C	7.37:g.123346339C>G	ENSP00000223023:p.Arg143Thr		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327136	0.81690	.	.	ENSG00000106299	ENST00000223023	D	0.99730	-6.56	5.77	5.77	0.91146	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99632	0.9865	M	0.65975	2.015	0.80722	D	1	P	0.52170	0.951	D	0.70935	0.971	D	0.98346	1.0541	10	0.72032	D	0.01	-14.0632	20.3627	0.98863	0.0:1.0:0.0:0.0	.	143	O00401	WASL_HUMAN	T	143	ENSP00000223023:R143T	ENSP00000223023:R143T	R	-	2	0	WASL	123133575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.223000	0.78033	2.885000	0.99019	0.655000	0.94253	AGG		0.353	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		G	123346339	C	G	123346339	3	3	396	1	0	0	0	0	1	0	0	0	17261	681	24	4	1121	4	WASL	7	123346339	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	203668	123346339	35792324	42	21907											
ZC3HAV1	56829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138764442	138764442	+	Silent	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:138764442G>A	ENST00000242351.5	-	4	1561	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G	ZC3HAV1_ENST00000471652.1_Silent_p.G415G|ZC3HAV1_ENST00000464606.1_Silent_p.G415G	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	415					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.G415G(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTCCACTTTTGCCATTGATGA	0.473																																																1	Substitution - coding silent(1)	kidney(1)											116	109	111					7																	138764442		2203	4300	6503	SO:0001819	synonymous_variant	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1245C>T	7.37:g.138764442G>A			A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	CCDS5851.1																																																																																				0.473	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		A	138764442	G	A	138764442	2	1	396	1	0	0	0	0	0	0	0	1	17580	1306	46	2		2	ZC3HAV1	7	138764442	Silent	SNP	G	TCGA-BP-4985-01A-01D-1462-08	15418103	138764442	20374221	43	21908											
TAS2R38	5726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	141672669	141672669	+	Missense_Mutation	SNP	C	C	T	rs139085046	byFrequency	TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr7:141672669C>T	ENST00000547270.1	-	1	904	c.821G>A	c.(820-822)cGc>cAc	p.R274H		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.R274H(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATTTTGTCGCGCCACAGAAT	0.502																																																1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77	74	75		821	0.7	0.4	7	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TAS2R38	NM_176817.4	29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	274/334	141672669	5,13001	2203	4300	6503	SO:0001583	missense	5726			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.821G>A	7.37:g.141672669C>T	ENSP00000448219:p.Arg274His		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	0.112	-1.137168	0.01742	2.27E-4	4.65E-4	ENSG00000257138	ENST00000547270	T	0.00745	5.75	4.35	0.706	0.18133	.	0.826911	0.10796	N	0.633258	T	0.00328	0.0010	N	0.00690	-1.25	0.09310	N	0.99999	B	0.06786	0.001	B	0.04013	0.001	T	0.41070	-0.9529	10	0.20046	T	0.44	.	6.29	0.21054	0.0:0.3047:0.0:0.6953	.	274	P59533	T2R38_HUMAN	H	274	ENSP00000448219:R274H	ENSP00000331291:R274H	R	-	2	0	TAS2R38	141319138	0.048000	0.20356	0.396000	0.26296	0.035000	0.12851	0.491000	0.22419	0.122000	0.18314	-1.004000	0.02495	CGC		0.502	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		T	141672669	C	T	141672669	3	4	396	1	0	0	0	0	1	0	0	0	15580	768	27	1	184	1	TAS2R38	7	141672669	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	2908227	141672669	17465994	44	21909											
IDO1	3620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	39775606	39775606	+	Splice_Site	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr8:39775606G>A	ENST00000518237.1	+	3	822		c.e3-1		RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Splice_Site|RP11-44K6.2_ENST00000520185.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1						cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.?(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	TTTGTTTTCAGTTAAACATGC	0.398																																																1	Unknown(1)	kidney(1)											124	117	119					8																	39775606		1992	4172	6164	SO:0001630	splice_region_variant	3620			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.184-1G>A	8.37:g.39775606G>A			Q540B4	Splice_Site	SNP	ENST00000518237.1	37	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176559	0.38413	.	.	ENSG00000131203	ENST00000518804;ENST00000519154;ENST00000522495;ENST00000518237	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2257	0.73348	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IDO1	39894763	1.000000	0.71417	0.498000	0.27564	0.026000	0.11368	5.547000	0.67249	2.667000	0.90743	0.585000	0.79938	.		0.398	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	Intron	A	39775606	G	A	39775606	5	1	396	1	0	0	0	0	0	0	1	0	7503	1043	36	2	193	2	IDO1	8	39775606	Splice_Site	SNP	G	TCGA-BP-4985-01A-01D-1462-08		39775606	106588416	45	21910											
SLC7A13	157724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87242198	87242198	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr8:87242198C>T	ENST00000297524.3	-	1	412	c.309G>A	c.(307-309)ctG>ctA	p.L103L	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.L103L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	103						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.L103L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CCCCTGACCCCAGAAACAAGG	0.473																																																2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											59	58	58					8																	87242198		2203	4300	6503	SO:0001819	synonymous_variant	157724			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.309G>A	8.37:g.87242198C>T			Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	CCDS34917.1																																																																																				0.473	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		T	87242198	C	T	87242198	2	4	396	1	0	0	0	0	0	0	0	1	14701	581	21	2		2	SLC7A13	8	87242198	Silent	SNP	C	TCGA-BP-4985-01A-01D-1462-08	47466592	87242198	59121824	46	21911											
VPS13B	157680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	100533198	100533198	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr8:100533198A>C	ENST00000358544.2	+	30	4891	c.4780A>C	c.(4780-4782)Aat>Cat	p.N1594H	VPS13B_ENST00000357162.2_Missense_Mutation_p.N1569H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1594					protein transport (GO:0015031)			p.N1594H(1)|p.N1569H(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCAGGCTGACAATCCCCTTGG	0.398																																					Colon(161;2205 2542 7338 31318)											2	Substitution - Missense(2)	kidney(2)											144	131	136					8																	100533198		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4780A>C	8.37:g.100533198A>C	ENSP00000351346:p.Asn1594His		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814457	0.70912	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.91011	-2.77;-2.76	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95360	0.8494	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.95891	0.8907	10	0.87932	D	0	.	15.8728	0.79136	1.0:0.0:0.0:0.0	.	1569;1594	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	1569;1594	ENSP00000349685:N1569H;ENSP00000351346:N1594H	ENSP00000349685:N1569H	N	+	1	0	VPS13B	100602374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.432000	0.90288	2.128000	0.65567	0.455000	0.32223	AAT		0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		C	100533198	A	C	100533198	3	2	396	1	0	0	0	0	1	0	0	0	17195	130	5	5	5088	5	VPS13B	8	100533198	Missense_Mutation	SNP	A	TCGA-BP-4985-01A-01D-1462-08	13291000	100533198	45830824	47	21912											
PLEC	5339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144995815	144995815	+	Missense_Mutation	SNP	G	G	A	rs371900885		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr8:144995815G>A	ENST00000322810.4	-	32	8754	c.8585C>T	c.(8584-8586)aCg>aTg	p.T2862M	PLEC_ENST00000527096.1_Missense_Mutation_p.T2748M|PLEC_ENST00000345136.3_Missense_Mutation_p.T2725M|PLEC_ENST00000356346.3_Missense_Mutation_p.T2711M|PLEC_ENST00000354958.2_Missense_Mutation_p.T2703M|PLEC_ENST00000436759.2_Missense_Mutation_p.T2752M|PLEC_ENST00000354589.3_Missense_Mutation_p.T2725M|PLEC_ENST00000398774.2_Missense_Mutation_p.T2693M|PLEC_ENST00000357649.2_Missense_Mutation_p.T2729M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2862	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.T2862K(1)|p.T2862M(1)|p.T2725K(1)|p.T2725M(1)|p.T2752M(1)|p.T2752K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATGAGGGCCGTGCCGGGACT	0.662																																																6	Substitution - Missense(6)	kidney(3)|endometrium(3)						G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4204		0,0,2102	29	34	33		8255,8132,8108,8585,8078,8174,8186,8174	4.3	0.9	8		33	1,8411		0,1,4205	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	81,81,81,81,81,81,81,81	0,1,6307	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2752/4575,2711/4534,2703/4526,2862/4685,2693/4516,2725/4548,2729/4552,2725/4548	144995815	1,12615	2102	4206	6308	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8585C>T	8.37:g.144995815G>A	ENSP00000323856:p.Thr2862Met		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829494	0.32329	0.0	1.19E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	4.3	4.3	0.51218	.	0.079870	0.47455	U	0.000233	D	0.87277	0.6137	M	0.85630	2.765	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.993;0.993;0.993;0.996;0.993;0.993;0.993;0.993	D	0.89068	0.3467	10	0.56958	D	0.05	.	16.8983	0.86106	0.0:0.0:1.0:0.0	.	2752;2711;2703;2862;2693;2725;2729;2725	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	2725;2729;2725;2693;2862;2703;2711;2752;2748	ENSP00000344848:T2725M;ENSP00000350277:T2729M;ENSP00000346602:T2725M;ENSP00000381756:T2693M;ENSP00000323856:T2862M;ENSP00000347044:T2703M;ENSP00000348702:T2711M;ENSP00000388180:T2752M;ENSP00000434583:T2748M	ENSP00000323856:T2862M	T	-	2	0	PLEC	145067803	1.000000	0.71417	0.944000	0.38274	0.641000	0.38312	5.423000	0.66458	2.404000	0.81709	0.448000	0.29417	ACG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144995815	G	A	144995815	3	1	396	1	0	0	0	0	1	0	0	0	12054	1145	40	1	5473	1	PLEC	8	144995815	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	44462617	144995815	1368207	48	21913											
KIAA1984	84960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139701099	139701099	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr9:139701099T>C	ENST00000338005.6	+	11	1288	c.1253T>C	c.(1252-1254)aTg>aCg	p.M418T	RABL6_ENST00000311502.7_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000357466.2_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000371663.4_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		418								p.M418T(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GTCCGGCTGATGGGCATTAAC	0.622																																																1	Substitution - Missense(1)	kidney(1)											34	40	38					9																	139701099		2087	4201	6288	SO:0001583	missense	84960																														ENST00000338005.6:c.1253T>C	9.37:g.139701099T>C	ENSP00000338013:p.Met418Thr		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	T	5.598	0.295056	0.10622	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.10668	2.85	5.07	2.52	0.30459	.	.	.	.	.	T	0.06280	0.0162	N	0.22421	0.69	0.09310	N	0.999996	B	0.21452	0.056	B	0.23018	0.043	T	0.44236	-0.9341	9	0.13470	T	0.59	0.0	5.1852	0.15180	0.1811:0.0:0.1887:0.6302	.	418	Q5T5S1	K1984_HUMAN	T	418	ENSP00000338013:M418T	ENSP00000338013:M418T	M	+	2	0	KIAA1984	138820920	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.188000	0.17018	0.744000	0.32741	-0.496000	0.04628	ATG		0.622	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			C	139701099	T	C	139701099	3	2	396	1	0	0	0	0	1	0	0	0	8268	1464	51	3	1295	3	KIAA1984	9	139701099	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08		139701099	1512332	49	21914											
ALOX5	240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	45935891	45935891	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:45935891C>T	ENST00000374391.2	+	8	1048	c.995C>T	c.(994-996)cCg>cTg	p.P332L	ALOX5_ENST00000542434.1_Missense_Mutation_p.P332L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	332	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.P332L(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	AACCAAATCCCGGGAGATGAG	0.483																																																1	Substitution - Missense(1)	kidney(1)											82	76	78					10																	45935891		2203	4300	6503	SO:0001583	missense	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.995C>T	10.37:g.45935891C>T	ENSP00000363512:p.Pro332Leu		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211419	0.79240	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.89681	-2.55;-2.55	6.06	6.06	0.98353	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95243	0.8353	10	0.66056	D	0.02	-13.4015	18.1182	0.89563	0.0:1.0:0.0:0.0	.	332;332;332	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	L	332	ENSP00000437634:P332L;ENSP00000363512:P332L	ENSP00000363512:P332L	P	+	2	0	ALOX5	45255897	1.000000	0.71417	0.996000	0.52242	0.444000	0.32077	7.818000	0.86416	2.879000	0.98667	0.650000	0.86243	CCG		0.483	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			T	45935891	C	T	45935891	3	4	396	1	0	0	0	0	1	0	0	0	540	652	23	1	1025	1	ALOX5	10	45935891	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08		45935891	89598856	50	21915											
MYPN	84665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	69881502	69881502	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:69881502G>C	ENST00000358913.5	+	2	795	c.307G>C	c.(307-309)Gat>Cat	p.D103H	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.D103H|MYPN_ENST00000540630.1_Missense_Mutation_p.D103H	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	103	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.D103H(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ACTTTCTCCTGATCAGATGAA	0.443																																																1	Substitution - Missense(1)	kidney(1)											50	49	49					10																	69881502		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.307G>C	10.37:g.69881502G>C	ENSP00000351790:p.Asp103His		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650081	0.47362	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.61627	0.46;0.44;0.09	6.03	6.03	0.97812	.	0.501051	0.22654	N	0.057282	T	0.68686	0.3028	L	0.51422	1.61	0.47994	D	0.999561	P;P	0.50617	0.937;0.8	P;B	0.55999	0.789;0.417	T	0.62756	-0.6787	9	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	103;103	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	H	103	ENSP00000351790:D103H;ENSP00000441668:D103H;ENSP00000362779:D103H	.	D	+	1	0	MYPN	69551508	1.000000	0.71417	0.987000	0.45799	0.952000	0.60782	3.832000	0.55783	2.861000	0.98227	0.655000	0.94253	GAT		0.443	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		C	69881502	G	C	69881502	3	2	396	1	0	0	0	0	1	0	0	0	10100	1290	45	4	309	4	MYPN	10	69881502	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	23945611	69881502	65653245	51	21916											
TET1	80312	hgsc.bcm.edu;ucsc.edu	37	10	70451380	70451382	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:70451380_70451382delAAG	ENST00000373644.4	+	12	6429_6431	c.6220_6222delAAG	c.(6220-6222)aagdel	p.K2074del		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2074					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TAAAGAAGCTAAGAATAAGAAAA	0.399																																																0																																										SO:0001651	inframe_deletion	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6220_6222delAAG	10.37:g.70451380_70451382delAAG	ENSP00000362748:p.Lys2074del		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	In_Frame_Del	DEL	ENST00000373644.4	37	CCDS7281.1																																																																																				0.399	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		-	70451382	AAG	-	70451380	7	5	396	1	0	1	0	1	0	0	0	0	15774	363	13	0	6262	0	TET1	10	70451380	In_Frame_Del	DEL	AAG	TCGA-BP-4985-01A-01D-1462-08	569878	70451380	65083367	52	21917											
PLAC9	219348	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	81904026	81904026	+	Silent	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:81904026G>C	ENST00000372263.3	+	3	252	c.210G>C	c.(208-210)ctG>ctC	p.L70L	PLAC9_ENST00000372270.2_Silent_p.L28L|PLAC9_ENST00000372267.2_Intron	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	placenta-specific 9	70						extracellular region (GO:0005576)		p.L70L(1)		kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			TGAAAGGCCTGCTGGGCCTGC	0.627											OREG0020321	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											71	64	66					10																	81904026		2203	4300	6503	SO:0001819	synonymous_variant	219348				CCDS31232.1	10q23.2	2008-02-04			ENSG00000189129	ENSG00000189129			19255	protein-coding gene	gene with protein product		612857					Standard	NM_001012973		Approved		uc001kbp.1	Q5JTB6	OTTHUMG00000018596	ENST00000372263.3:c.210G>C	10.37:g.81904026G>C		1209		Silent	SNP	ENST00000372263.3	37	CCDS31232.1																																																																																				0.627	PLAC9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049019.1	NM_001012973		C	81904026	G	C	81904026	2	2	396	1	0	0	0	0	0	0	0	1	12019	1306	46	4		4	PLAC9	10	81904026	Silent	SNP	G	TCGA-BP-4985-01A-01D-1462-08	11452646	81904026	53630721	53	21918											
MYOF	26509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	95148802	95148802	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:95148802C>A	ENST00000359263.4	-	18	1565	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	MYOF_ENST00000371501.4_Missense_Mutation_p.E522D|MYOF_ENST00000371502.4_Missense_Mutation_p.E522D|MYOF_ENST00000358334.5_Missense_Mutation_p.E509D	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	522					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.E522D(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGTATTCAGCTCATCATAGG	0.413																																																1	Substitution - Missense(1)	kidney(1)											163	149	153					10																	95148802		1850	4083	5933	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1566G>T	10.37:g.95148802C>A	ENSP00000352208:p.Glu522Asp		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	6.383	0.438736	0.12104	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83163	-1.69;-1.68;-1.69;-1.69	4.92	-4.07	0.03975	.	0.381500	0.28865	N	0.013898	T	0.53094	0.1775	N	0.05158	-0.105	0.27075	N	0.963233	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.001	T	0.49263	-0.8958	10	0.12430	T	0.62	-10.9185	3.297	0.06970	0.0908:0.2535:0.3679:0.2878	.	509;522	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	D	509;522;522;522	ENSP00000351094:E509D;ENSP00000352208:E522D;ENSP00000360556:E522D;ENSP00000360557:E522D	ENSP00000351094:E509D	E	-	3	2	MYOF	95138792	0.000000	0.05858	0.378000	0.26068	0.976000	0.68499	-3.939000	0.00330	-0.572000	0.06006	0.563000	0.77884	GAG		0.413	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		A	95148802	C	A	95148802	3	1	396	1	0	0	0	0	1	0	0	0	10091	796	28	4	4767	4	MYOF	10	95148802	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	13244776	95148802	40385945	54	21919											
DOCK1	1793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129202630	129202630	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr10:129202630C>T	ENST00000280333.6	+	40	4105	c.3996C>T	c.(3994-3996)atC>atT	p.I1332I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1332	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.I1332I(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCAAAGTGATCAGGCCCAAGC	0.438																																																1	Substitution - coding silent(1)	kidney(1)											63	64	64					10																	129202630		1866	4105	5971	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3996C>T	10.37:g.129202630C>T			A9Z1Z5	Silent	SNP	ENST00000280333.6	37																																																																																					0.438	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		T	129202630	C	T	129202630	2	4	396	1	0	0	0	0	0	0	0	1	4686	816	29	2		2	DOCK1	10	129202630	Silent	SNP	C	TCGA-BP-4985-01A-01D-1462-08	34053828	129202630	6332117	55	21920											
SCUBE2	57758	broad.mit.edu;ucsc.edu	37	11	9048918	9048918	+	Silent	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr11:9048918C>A	ENST00000309263.3	-	19	2679	c.2607G>T	c.(2605-2607)cgG>cgT	p.R869R	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Silent_p.R898R|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Silent_p.R841R			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	869	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R869R(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACAGGTTTTCCGCATCACCA	0.592																																																1	Substitution - coding silent(1)	kidney(1)											95	81	85					11																	9048918		2201	4296	6497	SO:0001819	synonymous_variant	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2607G>T	11.37:g.9048918C>A			Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.608|9.608	1.130587|1.130587	0.21041|0.21041	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000528651|ENST00000519202	.|.	.|.	.|.	5.34|5.34	4.43|4.43	0.53597|0.53597	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59004	.|0.2162	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56498	.|-0.7969	.|4	.|.	.|.	.|.	.|.	8.5466|8.5466	0.33426|0.33426	0.0:0.7783:0.0:0.2217|0.0:0.7783:0.0:0.2217	.|.	.|.	.|.	.|.	X|V	57|52	.|.	.|.	E|G	-|-	1|2	0|0	SCUBE2|SCUBE2	9005494|9005494	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.276000|0.276000	0.18716|0.18716	1.256000|1.256000	0.44068|0.44068	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.592	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		A	9048918	C	A	9048918	2	1	396	1	0	0	0	0	0	0	0	1	13951	842	30	4		4	SCUBE2	11	9048918	Silent	SNP	C	TCGA-BP-4985-01A-01D-1462-08		9048918	125957598	56	21921											
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62300776	62300776	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr11:62300776C>A	ENST00000378024.4	-	5	1387	c.1113G>T	c.(1111-1113)aaG>aaT	p.K371N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	371					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K371N(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGGGCCCTTCAGCTTCC	0.597																																																1	Substitution - Missense(1)	kidney(1)											49	46	47					11																	62300776		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1113G>T	11.37:g.62300776C>A	ENSP00000367263:p.Lys371Asn		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032176	0.54790	.	.	ENSG00000124942	ENST00000378024	T	0.01665	4.7	5.28	3.39	0.38822	.	0.000000	0.37178	U	0.002219	T	0.09024	0.0223	M	0.87547	2.89	0.27610	N	0.948699	D	0.64830	0.994	D	0.78314	0.991	T	0.06698	-1.0812	10	0.27082	T	0.32	-8.4656	7.6353	0.28264	0.0:0.6753:0.0:0.3247	.	371	Q09666	AHNK_HUMAN	N	371	ENSP00000367263:K371N	ENSP00000367263:K371N	K	-	3	2	AHNAK	62057352	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	-1.170000	0.03118	1.221000	0.43506	0.650000	0.86243	AAG		0.597	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62300776	C	A	62300776	3	1	396	1	0	0	0	0	1	0	0	0	414	680	24	4	16679	4	AHNAK	11	62300776	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	53251858	62300776	72705740	57	21922											
PCNXL3	399909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65386188	65386188	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr11:65386188G>A	ENST00000355703.3	+	6	1894	c.1355G>A	c.(1354-1356)tGc>tAc	p.C452Y		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	452	Ser-rich.					integral component of membrane (GO:0016021)		p.C333Y(2)|p.C452Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCTACTTCCTGCTACTCCCCT	0.647																																																3	Substitution - Missense(3)	kidney(3)											38	37	38					11																	65386188		1892	4109	6001	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.1355G>A	11.37:g.65386188G>A	ENSP00000347931:p.Cys452Tyr		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896333	0.72639	.	.	ENSG00000197136	ENST00000355703	T	0.01159	5.25	5.23	4.32	0.51571	.	0.000000	0.42964	D	0.000631	T	0.02848	0.0085	L	0.34521	1.04	0.40044	D	0.975698	D	0.65815	0.995	D	0.72982	0.979	T	0.67941	-0.5540	10	0.26408	T	0.33	.	9.8547	0.41079	0.0943:0.0:0.9057:0.0	.	452	Q9H6A9	PCX3_HUMAN	Y	452	ENSP00000347931:C452Y	ENSP00000347931:C452Y	C	+	2	0	PCNXL3	65142764	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	6.317000	0.72862	1.222000	0.43521	0.561000	0.74099	TGC		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		A	65386188	G	A	65386188	3	1	396	1	0	0	0	0	1	0	0	0	11595	1319	46	2	1377	2	PCNXL3	11	65386188	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	3085412	65386188	69620328	58	21923											
C11orf1	64776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111754535	111754535	+	Silent	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr11:111754535T>C	ENST00000260276.3	+	4	721	c.384T>C	c.(382-384)ccT>ccC	p.P128P	C11orf1_ENST00000528125.1_Silent_p.P82P|C11orf1_ENST00000529270.1_Silent_p.P168P|C11orf1_ENST00000530214.1_Missense_Mutation_p.L106P	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	128						nucleus (GO:0005634)		p.P128P(1)		kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		GACATCAACCTGAACTGGATC	0.408																																																1	Substitution - coding silent(1)	kidney(1)											120	117	118					11																	111754535		2201	4297	6498	SO:0001819	synonymous_variant	64776			AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.384T>C	11.37:g.111754535T>C			Q6I9X7|Q9NQC6	Silent	SNP	ENST00000260276.3	37	CCDS8350.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128024	0.37533	.	.	ENSG00000137720	ENST00000530214	T	0.23348	1.91	5.37	1.69	0.24217	.	.	.	.	.	T	0.21718	0.0523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08806	-1.0704	5	.	.	.	-19.8663	2.2251	0.03982	0.2665:0.0729:0.1387:0.5219	.	.	.	.	P	106	ENSP00000435864:L106P	.	L	+	2	0	C11orf1	111259745	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	0.904000	0.28491	0.117000	0.18138	-1.201000	0.01664	CTG		0.408	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	NM_022761		C	111754535	T	C	111754535	2	2	396	1	0	0	0	0	0	0	0	1	1631	1567	55	3		3	C11orf1	11	111754535	Silent	SNP	T	TCGA-BP-4985-01A-01D-1462-08	46368347	111754535	23251981	59	21924											
TREH	11181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118531943	118531943	+	Silent	SNP	G	G	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr11:118531943G>A	ENST00000529101.1	-	8	828	c.783C>T	c.(781-783)aaC>aaT	p.N261N	TREH_ENST00000264029.4_Silent_p.N261N|TREH_ENST00000397925.1_Silent_p.N230N|TREH_ENST00000525958.1_Silent_p.N230N|TREH_ENST00000530256.1_Silent_p.N138N			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	261					carbohydrate metabolic process (GO:0005975)|organ morphogenesis (GO:0009887)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|trehalose catabolic process (GO:0005993)|trehalose metabolic process (GO:0005991)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	alpha,alpha-trehalase activity (GO:0004555)	p.N138N(1)|p.N261N(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		AGACAGTCCTGTTCTTGGTCC	0.547																																																2	Substitution - coding silent(2)	kidney(2)											88	91	90					11																	118531943		1969	4154	6123	SO:0001819	synonymous_variant	11181			AB000824	CCDS73401.1, CCDS73402.1	11q23.3	2008-07-21				ENSG00000118094	3.2.1.28		12266	protein-coding gene	gene with protein product	"alpha,alpha-trehalase", "alpha,alpha-trehalose glucohydrolase"	275360				9427547	Standard	NM_007180		Approved	TRE, TREA, MGC129621	uc001pty.1	O43280		ENST00000529101.1:c.783C>T	11.37:g.118531943G>A			Q32MB9|Q53FY8	Silent	SNP	ENST00000529101.1	37																																																																																					0.547	TREH-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000389639.1	NM_007180		A	118531943	G	A	118531943	2	1	396	1	0	0	0	0	0	0	0	1	16474	1368	48	2		2	TREH	11	118531943	Silent	SNP	G	TCGA-BP-4985-01A-01D-1462-08	6777408	118531943	16474573	60	21925											
CLSTN3	9746	hgsc.bcm.edu;ucsc.edu	37	12	7295471	7295472	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr12:7295471_7295472insT	ENST00000266546.6	+	11	1997_1998	c.1547_1548insT	c.(1546-1551)cctttgfs	p.L517fs	CLSTN3_ENST00000537408.1_Frame_Shift_Ins_p.L529fs	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	517					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTAGGAGACCCTTTGTCGATCC	0.564											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1550dupT	12.37:g.7295474_7295474dupT	ENSP00000266546:p.Leu517fs	640	D3DUT6|O94831|Q2T9J5|Q5UE57	Frame_Shift_Ins	INS	ENST00000266546.6	37	CCDS8575.1																																																																																				0.564	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		T	7295472	-	T	7295471	7	5	396	1	0	1	1	0	0	0	0	0	3565	681	24	0	1589	0	CLSTN3	12	7295471	Frame_Shift_Ins	INS	-	TCGA-BP-4985-01A-01D-1462-08		7295471	126556424	61	21926											
A2ML1	144568	broad.mit.edu;hgsc.bcm.edu	37	12	8995734	8995734	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr12:8995734A>G	ENST00000299698.7	+	12	1433	c.1253A>G	c.(1252-1254)aAg>aGg	p.K418R	A2ML1_ENST00000539547.1_5'Flank	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.K418R(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCTCAGGGAAAGTTTCAAATG	0.448																																																1	Substitution - Missense(1)	kidney(1)											66	66	66					12																	8995734		1890	4120	6010	SO:0001583	missense	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1253A>G	12.37:g.8995734A>G	ENSP00000299698:p.Lys418Arg			Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.314479	0.01331	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.32272	1.46	4.24	-4.91	0.03085	.	3.675330	0.00757	N	0.001101	T	0.10208	0.0250	N	0.01352	-0.895	0.32268	N	0.569268	B	0.02656	0.0	B	0.01281	0.0	T	0.32955	-0.9887	10	0.12430	T	0.62	.	8.3133	0.32084	0.4047:0.0:0.4922:0.1031	.	418	A8K2U0	A2ML1_HUMAN	R	418	ENSP00000299698:K418R	ENSP00000299698:K418R	K	+	2	0	A2ML1	8887001	0.420000	0.25457	0.046000	0.18839	0.065000	0.16274	0.102000	0.15272	-1.118000	0.02961	-1.386000	0.01163	AAG		0.448	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		G	8995734	A	G	8995734	3	3	396	1	0	0	0	0	1	0	0	0	5	72	3	3	1299	3	A2ML1	12	8995734	Missense_Mutation	SNP	A	TCGA-BP-4985-01A-01D-1462-08	1700263	8995734	124856161	62	21927											
ALG10B	144245	broad.mit.edu;ucsc.edu	37	12	38710783	38710783	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr12:38710783G>T	ENST00000308742.4	+	1	404	c.88G>T	c.(88-90)Gcg>Tcg	p.A30S	ALG10B_ENST00000551464.1_Missense_Mutation_p.A30S	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	30					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.A30S(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTTCAGCCGGGCGCTGCGAGA	0.607											OREG0021733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											173	180	178					12																	38710783		2203	4300	6503	SO:0001583	missense	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.88G>T	12.37:g.38710783G>T	ENSP00000310120:p.Ala30Ser	880	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.060089	0.76074	.	.	ENSG00000175548	ENST00000308742;ENST00000551464	T;T	0.55760	0.5;0.5	3.64	3.64	0.41730	.	0.252575	0.39274	N	0.001412	T	0.44850	0.1313	L	0.47716	1.5	0.28784	N	0.899699	P	0.48998	0.918	P	0.46685	0.524	T	0.35919	-0.9769	10	0.07325	T	0.83	.	11.129	0.48336	0.0:0.0:1.0:0.0	.	30	Q5I7T1	AG10B_HUMAN	S	30	ENSP00000310120:A30S;ENSP00000448819:A30S	ENSP00000310120:A30S	A	+	1	0	ALG10B	36997050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.417000	0.52714	2.309000	0.77851	0.655000	0.94253	GCG		0.607	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		T	38710783	G	T	38710783	3	4	396	1	0	0	0	0	1	0	0	0	512	1203	42	4	90	4	ALG10B	12	38710783	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	29715049	38710783	95141112	63	21928											
C12orf64	283310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	80752068	80752068	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr12:80752068T>A	ENST00000547103.1	+	49	6003	c.5997T>A	c.(5995-5997)gaT>gaA	p.D1999E	OTOGL_ENST00000458043.2_Missense_Mutation_p.D2011E|OTOGL_ENST00000546620.1_Missense_Mutation_p.D30E			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1999	Cys-rich.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.D2011E(1)|p.D376E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TATGTCATGATGGGGAATTTC	0.338																																																2	Substitution - Missense(2)	kidney(2)											155	129	138					12																	80752068		2203	4300	6503	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5997T>A	12.37:g.80752068T>A	ENSP00000447211:p.Asp1999Glu		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.210|0.210	-1.037291|-1.037291	0.02013|0.02013	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182|ENST00000298820	T;T;T;T|.	0.27402|.	1.67;1.67;1.67;1.67|.	5.39|5.39	1.62|1.62	0.23740|0.23740	.|.	0.332375|.	0.27622|.	N|.	0.018546|.	T|T	0.09774|0.09774	0.0240|0.0240	N|N	0.04335|0.04335	-0.225|-0.225	0.23920|0.23920	N|N	0.996467|0.996467	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|T	0.23368|0.23368	-1.0190|-1.0190	10|5	0.02654|.	T|.	1|.	.|.	0.0939|0.0939	0.00042|0.00042	0.2642:0.1982:0.1739:0.3637|0.2642:0.1982:0.1739:0.3637	.|.	376|.	Q3ZCN5|.	OTOGL_HUMAN|.	E|K	1999;2011;30;28|454	ENSP00000447211:D1999E;ENSP00000400895:D2011E;ENSP00000449094:D30E;ENSP00000449641:D28E|.	ENSP00000400895:D2011E|.	D|M	+|+	3|2	2|0	OTOGL|OTOGL	79276199|79276199	0.119000|0.119000	0.22226|0.22226	0.965000|0.965000	0.40720|0.40720	0.336000|0.336000	0.28762|0.28762	-0.397000|-0.397000	0.07269|0.07269	0.308000|0.308000	0.22923|0.22923	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.338	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		A	80752068	T	A	80752068	3	1	396	1	0	0	0	0	1	0	0	0	1709	1461	51	5	6227	5	C12orf64	12	80752068	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08	42041285	80752068	53099827	64	21929											
TMTC2	160335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	83290181	83290181	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr12:83290181C>G	ENST00000321196.3	+	3	1946	c.1239C>G	c.(1237-1239)ttC>ttG	p.F413L	TMTC2_ENST00000549919.1_Missense_Mutation_p.F407L|TMTC2_ENST00000548305.1_Missense_Mutation_p.F413L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	413					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.F413L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACCTGTTTTTCTATGTCGGCT	0.418																																																1	Substitution - Missense(1)	kidney(1)											170	170	170					12																	83290181		2203	4300	6503	SO:0001583	missense	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1239C>G	12.37:g.83290181C>G	ENSP00000322300:p.Phe413Leu		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926756	0.73327	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.44482	0.92;0.92;0.92	5.86	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.74546	2.27	0.80722	D	1	D;D;D	0.76494	0.999;0.959;0.995	D;P;P	0.80764	0.994;0.882;0.814	T	0.63019	-0.6730	10	0.56958	D	0.05	-25.5984	11.4423	0.50105	0.0:0.8024:0.0:0.1976	.	413;168;413	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	L	413;413;407;168	ENSP00000322300:F413L;ENSP00000448292:F413L;ENSP00000447609:F407L	ENSP00000322300:F413L	F	+	3	2	TMTC2	81814312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.125000	0.50469	0.816000	0.34421	0.650000	0.86243	TTC		0.418	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		G	83290181	C	G	83290181	3	3	396	1	0	0	0	0	1	0	0	0	16266	912	32	4	1249	4	TMTC2	12	83290181	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	2538113	83290181	50561714	65	21930											
IRS2	8660	broad.mit.edu;hgsc.bcm.edu	37	13	110437883	110437883	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr13:110437883C>G	ENST00000375856.3	-	1	1032	c.518G>C	c.(517-519)gGc>gCc	p.G173A		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	173					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.G173A(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gccggcagagccgcccagggc	0.796																																					Melanoma(100;613 2409 40847)											1	Substitution - Missense(1)	kidney(1)											4	5	5					13																	110437883		1556	3145	4701	SO:0001583	missense	8660			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.518G>C	13.37:g.110437883C>G	ENSP00000365016:p.Gly173Ala		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	c	6.007	0.369610	0.11352	.	.	ENSG00000185950	ENST00000375856	T	0.47528	0.84	3.63	2.79	0.32731	.	.	.	.	.	T	0.25568	0.0622	N	0.19112	0.55	0.27425	N	0.954185	B	0.30793	0.295	B	0.26202	0.067	T	0.18023	-1.0350	9	0.05721	T	0.95	-11.0176	8.8	0.34903	0.0:0.885:0.0:0.115	.	173	Q9Y4H2	IRS2_HUMAN	A	173	ENSP00000365016:G173A	ENSP00000365016:G173A	G	-	2	0	IRS2	109235884	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	3.896000	0.56266	0.767000	0.33267	0.487000	0.48397	GGC		0.796	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		G	110437883	C	G	110437883	3	3	396	1	0	0	0	0	1	0	0	0	7843	739	26	4	3506	4	IRS2	13	110437883	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08		110437883	4731995	66	21931											
DCAF11	80344	broad.mit.edu;hgsc.bcm.edu	37	14	24590705	24590705	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr14:24590705T>A	ENST00000446197.3	+	13	2105	c.1378T>A	c.(1378-1380)Tgc>Agc	p.C460S	DCAF11_ENST00000559115.1_Missense_Mutation_p.C460S|DCAF11_ENST00000396936.1_Missense_Mutation_p.C360S|DCAF11_ENST00000396941.4_Missense_Mutation_p.C434S|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.L49Q	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	460					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.C460S(1)									CTACAGTGGCTGCTCCACTGG	0.567																																																1	Substitution - Missense(1)	kidney(1)											64	50	55					14																	24590705		2203	4300	6503	SO:0001583	missense	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1378T>A	14.37:g.24590705T>A	ENSP00000415556:p.Cys460Ser		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	t	14.68	2.609120	0.46527	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.01051	5.4;5.4	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.00608	0.0020	N	0.02368	-0.58	0.80722	D	1	P;P;B;B;P	0.48503	0.911;0.713;0.08;0.244;0.787	B;B;B;B;B	0.39027	0.288;0.225;0.024;0.213;0.241	T	0.67806	-0.5575	10	0.02654	T	1	-16.6493	13.8738	0.63638	0.0:0.0:0.0:1.0	.	383;434;360;460;460	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	S	460;434;360;434	ENSP00000380142:C360S;ENSP00000380146:C434S	ENSP00000323680:C460S	C	+	1	0	DCAF11	23660545	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.891000	0.75639	2.371000	0.80710	0.533000	0.62120	TGC		0.567	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			A	24590705	T	A	24590705	3	1	396	1	0	0	0	0	1	0	0	0	4264	1580	55	5	1424	5	DCAF11	14	24590705	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08		24590705	82758835	67	21932											
RIPK3	11035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24808452	24808452	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr14:24808452C>T	ENST00000216274.5	-	3	458	c.240G>A	c.(238-240)gaG>gaA	p.E80E	RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)	p.E80E(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		AGTTCACCTTCTCGATAACCC	0.577																																					Pancreas(58;918 1191 4668 13304 15331)											1	Substitution - coding silent(1)	kidney(1)											97	84	88					14																	24808452		2203	4300	6503	SO:0001819	synonymous_variant	11035			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.240G>A	14.37:g.24808452C>T			B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Silent	SNP	ENST00000216274.5	37	CCDS9628.1																																																																																				0.577	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		T	24808452	C	T	24808452	2	4	396	1	0	0	0	0	0	0	0	1	13388	912	32	2		2	RIPK3	14	24808452	Silent	SNP	C	TCGA-BP-4985-01A-01D-1462-08	217747	24808452	82541088	68	21933											
AQR	9716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	35196564	35196564	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr15:35196564C>T	ENST00000156471.5	-	19	2199	c.1974G>A	c.(1972-1974)agG>agA	p.R658R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	658					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R658R(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGGTTTTCTCCTCATTATTA	0.289																																																1	Substitution - coding silent(1)	kidney(1)											85	78	80					15																	35196564		1789	4057	5846	SO:0001819	synonymous_variant	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1974G>A	15.37:g.35196564C>T			A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	CCDS42013.1																																																																																				0.289	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		T	35196564	C	T	35196564	2	4	396	1	0	0	0	0	0	0	0	1	835	854	30	2		2	AQR	15	35196564	Silent	SNP	C	TCGA-BP-4985-01A-01D-1462-08		35196564	67334828	69	21934											
DISP2	85455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40662245	40662245	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr15:40662245A>C	ENST00000267889.3	+	8	4019	c.3932A>C	c.(3931-3933)gAt>gCt	p.D1311A	LINC00594_ENST00000561261.1_lincRNA|RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1311					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.D1311A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CGTGTACCAGATTCCGTGGGT	0.627																																																1	Substitution - Missense(1)	kidney(1)											93	93	93					15																	40662245		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3932A>C	15.37:g.40662245A>C	ENSP00000267889:p.Asp1311Ala		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236006	0.39498	.	.	ENSG00000140323	ENST00000267889	T	0.13778	2.56	5.2	5.2	0.72013	.	0.219158	0.39146	N	0.001460	T	0.15349	0.0370	N	0.24115	0.695	0.27025	N	0.964384	D	0.56287	0.975	P	0.48815	0.591	T	0.03545	-1.1026	10	0.66056	D	0.02	-9.855	15.2268	0.73357	1.0:0.0:0.0:0.0	.	1311	A7MBM2	DISP2_HUMAN	A	1311	ENSP00000267889:D1311A	ENSP00000267889:D1311A	D	+	2	0	DISP2	38449537	1.000000	0.71417	0.565000	0.28409	0.985000	0.73830	1.754000	0.38369	2.185000	0.69588	0.459000	0.35465	GAT		0.627	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		C	40662245	A	C	40662245	3	2	396	1	0	0	0	0	1	0	0	0	4542	333	12	5	3962	5	DISP2	15	40662245	Missense_Mutation	SNP	A	TCGA-BP-4985-01A-01D-1462-08	5465681	40662245	61869147	70	21935											
RCN2	5955	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	77241529	77241529	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr15:77241529T>G	ENST00000394885.3	+	7	1143	c.920T>G	c.(919-921)cTc>cGc	p.L307R	RCN2_ENST00000394883.3_Missense_Mutation_p.L206R|RCN2_ENST00000320963.5_Missense_Mutation_p.L325R	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	307						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)	p.L307R(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						GGCAGACAGCTCCATGATGAC	0.403																																																1	Substitution - Missense(1)	kidney(1)											113	114	114					15																	77241529		2196	4294	6490	SO:0001583	missense	5955			X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"EF-hand domain containing"	9935	protein-coding gene	gene with protein product	"Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.920T>G	15.37:g.77241529T>G	ENSP00000378349:p.Leu307Arg		A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	37	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288585	0.80914	.	.	ENSG00000117906	ENST00000394885;ENST00000320963;ENST00000394883	T;T;T	0.59772	0.24;0.24;0.24	5.91	5.91	0.95273	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81470	0.4829	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.998	D	0.85746	0.1340	10	0.87932	D	0	-13.6652	16.3472	0.83146	0.0:0.0:0.0:1.0	.	206;325;307	A8MXP8;F8WCY5;Q14257	.;.;RCN2_HUMAN	R	307;325;206	ENSP00000378349:L307R;ENSP00000319739:L325R;ENSP00000378347:L206R	ENSP00000319739:L325R	L	+	2	0	RCN2	75028584	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.393000	0.79851	2.266000	0.75297	0.454000	0.30748	CTC		0.403	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902		G	77241529	T	G	77241529	3	3	396	1	0	0	0	0	1	0	0	0	13186	1551	54	5	946	5	RCN2	15	77241529	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08	36579284	77241529	25289863	71	21936											
C15orf58	390637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90785079	90785079	+	Silent	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr15:90785079G>T	ENST00000558017.1	+	4	1359	c.939G>T	c.(937-939)ctG>ctT	p.L313L	GDPGP1_ENST00000329600.6_Silent_p.L313L	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	313					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)	p.L313L(1)									GAGTAATTCTGTGGGCCCGGA	0.552																																																1	Substitution - coding silent(1)	kidney(1)											88	87	87					15																	90785079		2199	4298	6497	SO:0001819	synonymous_variant	0				CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 58"	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.939G>T	15.37:g.90785079G>T				Silent	SNP	ENST00000558017.1	37	CCDS32327.1																																																																																				0.552	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		T	90785079	G	T	90785079	2	4	396	1	0	0	0	0	0	0	0	1	1808	1364	48	4		4	C15orf58	15	90785079	Silent	SNP	G	TCGA-BP-4985-01A-01D-1462-08	13543550	90785079	11746313	72	21937											
GRIN2A	2903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	9943692	9943692	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr16:9943692C>T	ENST00000396573.2	-	6	1558	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.V417I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V417I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V417I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V260I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V417I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	417					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V417I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCACGATGACGAATGGGGCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											179	141	154					16																	9943692		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1249G>A	16.37:g.9943692C>T	ENSP00000379818:p.Val417Ile		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005630	0.93287	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.21191	2.05;2.02;2.09;2.05;2.05	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	M	0.81614	2.55	0.80722	D	1	D;D;D	0.63880	0.993;0.987;0.992	D;P;P	0.63488	0.915;0.825;0.892	T	0.49679	-0.8914	9	.	.	.	.	17.7785	0.88516	0.0:1.0:0.0:0.0	.	260;417;417	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	417;417;260;417;417	ENSP00000379818:V417I;ENSP00000385872:V417I;ENSP00000441572:V260I;ENSP00000332549:V417I;ENSP00000379820:V417I	.	V	-	1	0	GRIN2A	9851193	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.684000	0.84104	2.430000	0.82344	0.655000	0.94253	GTC		0.577	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			T	9943692	C	T	9943692	3	4	396	1	0	0	0	0	1	0	0	0	6781	536	19	1	3181	1	GRIN2A	16	9943692	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08		9943692	80411061	73	21938											
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7681680	7681680	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:7681680A>G	ENST00000572933.1	+	35	6894	c.5434A>G	c.(5434-5436)Acc>Gcc	p.T1812A	DNAH2_ENST00000389173.2_Missense_Mutation_p.T1812A			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1812	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T1812A(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAAGACCGAGACCGTCAAGGA	0.577																																																1	Substitution - Missense(1)	kidney(1)											64	59	61					17																	7681680		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5434A>G	17.37:g.7681680A>G	ENSP00000458355:p.Thr1812Ala		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.957690	0.92726	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.39787	1.06	5.54	5.54	0.83059	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80815	-0.1214	10	0.87932	D	0	.	14.7985	0.69894	1.0:0.0:0.0:0.0	.	1812	Q9P225	DYH2_HUMAN	A	1812	ENSP00000373825:T1812A	ENSP00000353818:T1812A	T	+	1	0	DNAH2	7622405	1.000000	0.71417	0.993000	0.49108	0.915000	0.54546	8.968000	0.93407	2.330000	0.79161	0.528000	0.53228	ACC		0.577	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		G	7681680	A	G	7681680	3	3	396	1	0	0	0	0	1	0	0	0	4604	275	10	3	5568	3	DNAH2	17	7681680	Missense_Mutation	SNP	A	TCGA-BP-4985-01A-01D-1462-08		7681680	73513530	74	21939											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11593618	11593618	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:11593618G>C	ENST00000262442.4	+	20	4547	c.4479G>C	c.(4477-4479)gaG>gaC	p.E1493D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1493D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1493	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E1493D(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTTCTTGGAGGAGGTGTCGG	0.493																																																1	Substitution - Missense(1)	kidney(1)											119	116	117					17																	11593618		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4479G>C	17.37:g.11593618G>C	ENSP00000262442:p.Glu1493Asp		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267925	0.23136	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.61510	0.1;0.1	5.57	2.46	0.29980	Dynein heavy chain, domain-2 (1);	0.129151	0.51477	D	0.000085	T	0.39600	0.1084	N	0.25286	0.73	0.80722	D	1	B	0.14438	0.01	B	0.20384	0.029	T	0.13602	-1.0503	10	0.31617	T	0.26	.	8.758	0.34656	0.2961:0.0:0.7039:0.0	.	1493	Q9NYC9	DYH9_HUMAN	D	1493;1493;75	ENSP00000262442:E1493D;ENSP00000414874:E1493D	ENSP00000262442:E1493D	E	+	3	2	DNAH9	11534343	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	0.858000	0.27845	0.710000	0.31997	-0.136000	0.14681	GAG		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		C	11593618	G	C	11593618	3	2	396	1	0	0	0	0	1	0	0	0	4610	991	35	4	4557	4	DNAH9	17	11593618	Missense_Mutation	SNP	G	TCGA-BP-4985-01A-01D-1462-08	3911938	11593618	69601592	75	21940											
MPRIP	23164	broad.mit.edu;hgsc.bcm.edu	37	17	17078669	17078669	+	Silent	SNP	C	C	A	rs369573954		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:17078669C>A	ENST00000341712.4	+	19	2652	c.2652C>A	c.(2650-2652)ggC>ggA	p.G884G	MPRIP_ENST00000395804.3_Silent_p.G884G|MPRIP_ENST00000444976.1_Silent_p.G846G|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395811.5_Silent_p.G884G			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	884						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.G884G(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGGGGACGGCGGTGGGGAGG	0.627																																																1	Substitution - coding silent(1)	kidney(1)											42	37	39					17																	17078669		2203	4296	6499	SO:0001819	synonymous_variant	23164			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2652C>A	17.37:g.17078669C>A			Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	C	6.272	0.418373	0.11870	.	.	ENSG00000133030	ENST00000414263	.	.	.	5.77	-8.33	0.00992	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.19775	N	0.999959	.	.	.	.	.	.	T	0.22661	-1.0210	4	.	.	.	-11.5729	3.7501	0.08563	0.0776:0.285:0.2322:0.4052	.	.	.	.	E	950	.	.	A	+	2	0	MPRIP	17019394	0.012000	0.17670	0.000000	0.03702	0.736000	0.42039	-0.923000	0.04000	-1.411000	0.02032	-0.136000	0.14681	GCG		0.627	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		A	17078669	C	A	17078669	2	1	396	1	0	0	0	0	0	0	0	1	9745	755	27	4		4	MPRIP	17	17078669	Silent	SNP	C	TCGA-BP-4985-01A-01D-1462-08	5485051	17078669	64116541	76	21941											
CYTSB	92521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	20107798	20107798	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:20107798C>A	ENST00000261503.5	+	4	487	c.436C>A	c.(436-438)Cac>Aac	p.H146N	SPECC1_ENST00000395525.3_Missense_Mutation_p.H65N|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.H146N|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395522.2_Missense_Mutation_p.H65N|SPECC1_ENST00000395529.3_Missense_Mutation_p.H146N|SPECC1_ENST00000395530.2_Missense_Mutation_p.H65N	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	146					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.H146N(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCCTACGAAACACCTGAGGAC	0.527																																																1	Substitution - Missense(1)	kidney(1)											122	125	124					17																	20107798		2203	4300	6503	SO:0001583	missense	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.436C>A	17.37:g.20107798C>A	ENSP00000261503:p.His146Asn		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	7.212	0.595554	0.13875	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.62941	-0.01;2.98;2.99;2.99	4.73	2.7	0.31948	.	0.236287	0.50627	D	0.000102	T	0.46092	0.1375	L	0.41710	1.295	0.80722	D	1	B;B;B;B	0.29162	0.067;0.235;0.235;0.047	B;B;B;B	0.27380	0.079;0.079;0.079;0.012	T	0.29305	-1.0016	10	0.34782	T	0.22	-9.9946	4.8083	0.13331	0.1712:0.6401:0.0:0.1888	.	65;65;146;146	Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;CYTSB_HUMAN	N	146;146;146;65;65;65	ENSP00000261503:H146N;ENSP00000378900:H146N;ENSP00000378893:H65N;ENSP00000378896:H65N	ENSP00000261503:H146N	H	+	1	0	SPECC1	20048390	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	2.161000	0.42358	0.661000	0.30985	0.591000	0.81541	CAC		0.527	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		A	20107798	C	A	20107798	3	1	396	1	0	0	0	0	1	0	0	0	4212	478	17	4	490	4	CYTSB	17	20107798	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	3029129	20107798	61087412	77	21942											
PHF12	57649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27233901	27233901	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:27233901T>A	ENST00000332830.4	-	14	3463	c.2653A>T	c.(2653-2655)Att>Ttt	p.I885F	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.I885F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGGCAACAATACTGCTTGGG	0.522																																																1	Substitution - Missense(1)	kidney(1)											98	99	99					17																	27233901		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2653A>T	17.37:g.27233901T>A	ENSP00000329933:p.Ile885Phe			Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715226	0.48622	.	.	ENSG00000109118	ENST00000332830	D	0.94576	-3.46	4.99	4.99	0.66335	.	0.063665	0.64402	D	0.000003	D	0.92130	0.7505	L	0.50333	1.59	0.80722	D	1	P;P	0.43477	0.808;0.808	B;B	0.41299	0.353;0.353	D	0.91757	0.5417	10	0.41790	T	0.15	-19.5564	13.6498	0.62304	0.0:0.0:0.0:1.0	.	867;885	B4DFE2;Q96QT6	.;PHF12_HUMAN	F	885	ENSP00000329933:I885F	ENSP00000329933:I885F	I	-	1	0	PHF12	24258027	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.578000	0.60929	2.089000	0.63090	0.379000	0.24179	ATT		0.522	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		A	27233901	T	A	27233901	3	1	396	1	0	0	0	0	1	0	0	0	11825	1406	49	5	369	5	PHF12	17	27233901	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08	7126103	27233901	53961309	78	21943											
FZD2	2535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42636502	42636502	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:42636502C>T	ENST00000315323.3	+	1	1578	c.1446C>T	c.(1444-1446)taC>taT	p.Y482Y		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	482					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Y482Y(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTACTTCTACGAGCAGGCCT	0.652																																																1	Substitution - coding silent(1)	kidney(1)											59	49	53					17																	42636502		2203	4300	6503	SO:0001819	synonymous_variant	2535			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1446C>T	17.37:g.42636502C>T			Q0VG82	Silent	SNP	ENST00000315323.3	37	CCDS11484.1																																																																																				0.652	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		T	42636502	C	T	42636502	2	4	396	1	0	0	0	0	0	0	0	1	6132	547	19	1		1	FZD2	17	42636502	Silent	SNP	C	TCGA-BP-4985-01A-01D-1462-08	15402601	42636502	38558708	79	21944											
VEZF1	7716	broad.mit.edu;hgsc.bcm.edu	37	17	56058037	56058037	+	Silent	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:56058037G>T	ENST00000581208.1	-	4	943	c.903C>A	c.(901-903)atC>atA	p.I301I	VEZF1_ENST00000584396.1_Silent_p.I292I	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	301					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I301I(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGTGGCTGGTGATGTATGCTG	0.463																																																1	Substitution - coding silent(1)	kidney(1)											160	126	138					17																	56058037		2203	4298	6501	SO:0001819	synonymous_variant	7716			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.903C>A	17.37:g.56058037G>T				Silent	SNP	ENST00000581208.1	37	CCDS32687.1																																																																																				0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			T	56058037	G	T	56058037	2	4	396	1	0	0	0	0	0	0	0	1	17160	1280	45	4		4	VEZF1	17	56058037	Silent	SNP	G	TCGA-BP-4985-01A-01D-1462-08	13421535	56058037	25137173	80	21945											
LLGL2	3993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73565078	73565078	+	Missense_Mutation	SNP	C	C	T	rs201300652		TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr17:73565078C>T	ENST00000392550.3	+	13	1459	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	LLGL2_ENST00000167462.5_Missense_Mutation_p.R448W|LLGL2_ENST00000577200.1_Missense_Mutation_p.R448W	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	448					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.R448W(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGGCACGGTGCGGTTCTGGGA	0.662																																																2	Substitution - Missense(2)	kidney(2)											41	42	42					17																	73565078		2203	4300	6503	SO:0001583	missense	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1342C>T	17.37:g.73565078C>T	ENSP00000376333:p.Arg448Trp		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564370	0.27915	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.37584	1.19;1.19	5.33	-1.53	0.08611	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.054448	0.85682	D	0.000000	T	0.62841	0.2461	M	0.87547	2.89	0.45541	D	0.998499	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.924;0.988;0.98;0.988;0.993	T	0.75039	-0.3458	10	0.87932	D	0	-26.4431	18.1188	0.89565	0.593:0.407:0.0:0.0	.	75;437;437;448;448	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	W	448;448;437	ENSP00000167462:R448W;ENSP00000376333:R448W	ENSP00000167462:R448W	R	+	1	2	LLGL2	71076673	1.000000	0.71417	0.193000	0.23327	0.860000	0.49131	1.276000	0.33156	-0.049000	0.13379	-0.268000	0.10319	CGG		0.662	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		T	73565078	C	T	73565078	3	4	396	1	0	0	0	0	1	0	0	0	8836	759	27	1	1423	1	LLGL2	17	73565078	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	17507041	73565078	7630132	81	21946											
DTNA	1837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	32409025	32409025	+	Intron	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr18:32409025G>T	ENST00000399113.3	+	10	1094				DTNA_ENST00000599844.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.G372V|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.G369V|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000601125.1_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha						neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.G369V(2)|p.G372V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCTTTTGGTGGATGCGTCTAG	0.428																																																3	Substitution - Missense(3)	kidney(3)											220	201	207					18																	32409025		1893	4116	6009	SO:0001627	intron_variant	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1094+1385G>T	18.37:g.32409025G>T			A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416023	0.62511	.	.	ENSG00000134769	ENST00000315456;ENST00000556176	T	0.18810	2.19	5.35	4.4	0.53042	.	.	.	.	.	T	0.35970	0.0950	.	.	.	0.80722	D	1	D;D	0.62365	0.985;0.991	P;P	0.56514	0.636;0.8	T	0.05632	-1.0873	8	0.72032	D	0.01	.	10.8214	0.46606	0.098:0.0:0.902:0.0	.	369;372	Q9BS59;Q9Y4J8-7	.;.	V	372;369	ENSP00000322519:G372V	ENSP00000322519:G372V	G	+	2	0	DTNA	30663023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.342000	0.33919	2.808000	0.96608	0.650000	0.86243	GGA		0.428	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		T	32409025	G	T	32409025	1	4	396	0	1	0	0	0	0	0	0	0	4790	1174	41	4		4	DTNA	18	32409025	Intron	SNP	G	TCGA-BP-4985-01A-01D-1462-08		32409025	45668223	82	21947											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9067640	9067640	+	Silent	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:9067640A>G	ENST00000397910.4	-	3	20009	c.19806T>C	c.(19804-19806)tcT>tcC	p.S6602S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6604	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6602S(2)|p.S2235S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTCCTTTTCAGAAGTGGTGG	0.428																																																3	Substitution - coding silent(3)	kidney(3)											201	183	189					19																	9067640		1926	4134	6060	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19806T>C	19.37:g.9067640A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.428	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9067640	A	G	9067640	2	3	396	1	0	0	0	0	0	0	0	1	9975	175	7	3		3	MUC16	19	9067640	Silent	SNP	A	TCGA-BP-4985-01A-01D-1462-08		9067640	50061343	83	21948											
TYK2	7297	broad.mit.edu;hgsc.bcm.edu	37	19	10476537	10476537	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:10476537T>C	ENST00000525621.1	-	7	1148	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	TYK2_ENST00000524462.1_Missense_Mutation_p.I38V|TYK2_ENST00000529370.1_Missense_Mutation_p.I223V|TYK2_ENST00000264818.6_Missense_Mutation_p.I223V	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	223	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.I223V(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGCTGCCGGATATGCCGGCGG	0.667																																																1	Substitution - Missense(1)	kidney(1)											12	14	14					19																	10476537		2179	4262	6441	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.667A>G	19.37:g.10476537T>C	ENSP00000431885:p.Ile223Val		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.47|12.47	1.948775|1.948775	0.34377|0.34377	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000525220|ENST00000524462;ENST00000525621;ENST00000264818;ENST00000529370	.|D;T;T;T	.|0.84660	.|-1.88;1.03;1.03;1.03	4.66|4.66	3.63|3.63	0.41609|0.41609	.|FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.351107|0.351107	0.22570|0.22570	N|N	0.058345|0.058345	D|D	0.85894|0.85894	0.5803|0.5803	M|M	0.82323|0.82323	2.585|2.585	0.48236|0.48236	D|D	0.999618|0.999618	.|P;P	.|0.47350	.|0.696;0.894	.|B;B	.|0.43575	.|0.254;0.424	D|D	0.85641|0.85641	0.1276|0.1276	6|10	.|0.87932	.|D	.|0	-22.8|-22.8	9.7288|9.7288	0.40348|0.40348	0.0:0.0:0.1744:0.8256|0.0:0.0:0.1744:0.8256	.|.	.|223;223	.|E9PPF2;P29597	.|.;TYK2_HUMAN	M|V	1|38;223;223;223	.|ENSP00000433203:I38V;ENSP00000431885:I223V;ENSP00000264818:I223V;ENSP00000432728:I223V	.|ENSP00000264818:I223V	I|I	-|-	3|1	3|0	TYK2|TYK2	10337537|10337537	1.000000|1.000000	0.71417|0.71417	0.767000|0.767000	0.31495|0.31495	0.154000|0.154000	0.21943|0.21943	5.478000|5.478000	0.66806|0.66806	0.798000|0.798000	0.33994|0.33994	0.459000|0.459000	0.35465|0.35465	ATA|ATC		0.667	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			C	10476537	T	C	10476537	3	2	396	1	0	0	0	0	1	0	0	0	16815	1406	49	3	2972	3	TYK2	19	10476537	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08	1408897	10476537	48652446	84	21949											
LASS1	10715	broad.mit.edu	37	19	18990120	18990122	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	TCA	TCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:18990120_18990122delTCA	ENST00000427170.2	-	5	899_901	c.828_830delTGA	c.(826-831)cctgac>ccc	p.D277del	AC005197.2_ENST00000597769.1_RNA|GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000429504.2_In_Frame_Del_p.D277del|CERS1_ENST00000542296.2_In_Frame_Del_p.D179del	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	277	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular response to dithiothreitol (GO:0072721)|cellular response to drug (GO:0035690)|cellular response to mycotoxin (GO:0036146)|cellular response to UV-A (GO:0071492)|ceramide biosynthetic process (GO:0046513)|negative regulation of telomerase activity (GO:0051974)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	sphingosine N-acyltransferase activity (GO:0050291)			endometrium(3)|lung(2)	5						GAAGGGGATGTCAGGCACCGTGC	0.601																																																0																																										SO:0001651	inframe_deletion	2657			AF105005	CCDS46021.1	19p12	2011-07-08	2011-07-08	2011-07-08		ENSG00000223802			14253	protein-coding gene	gene with protein product		606919	"longevity assurance (LAG1, S. cerevisiae) homolog 1", "LAG1 longevity assurance homolog 1 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 1"	LASS1		9872981, 2034669	Standard	NM_198207		Approved	LAG1, UOG1	uc002nkj.3	P27544		ENST00000427170.2:c.828_830delTGA	19.37:g.18990120_18990122delTCA	ENSP00000402697:p.Asp277del			In_Frame_Del	DEL	ENST00000427170.2	37	CCDS46020.1																																																																																				0.601	CERS1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				-	18990122	TCA	-	18990120	7	5	396	1	0	1	0	1	0	0	0	0	8640	1667	58	0	238	0	LASS1	19	18990120	In_Frame_Del	DEL	TCA	TCGA-BP-4985-01A-01D-1462-08	8513583	18990120	40138863	85	21950											
POLR2I	5438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36605736	36605736	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:36605736T>A	ENST00000221859.4	-	1	512	c.23A>T	c.(22-24)gAg>gTg	p.E8V	TBCB_ENST00000589996.1_5'Flank|TBCB_ENST00000221855.3_5'Flank|TBCB_ENST00000585746.1_5'Flank|TBCB_ENST00000586868.1_5'Flank	NM_006233.4	NP_006224.1	P36954	RPB9_HUMAN	polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa	8					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|maintenance of transcriptional fidelity during DNA-templated transcription elongation from RNA polymerase II promoter (GO:0001193)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.E8V(1)		kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAAGCCCGGCTCGTAAGTCCC	0.687																																																1	Substitution - Missense(1)	kidney(1)											74	77	76					19																	36605736		2203	4300	6503	SO:0001583	missense	5438				CCDS12487.1	19q13.12	2013-10-17	2002-08-29		ENSG00000105258	ENSG00000105258	2.7.7.6	"RNA polymerase subunits"	9196	protein-coding gene	gene with protein product		180662	"polymerase (RNA) II (DNA directed) polypeptide I (14.5kD)"			8034326	Standard	NM_006233		Approved	RPB9, hRPB14.5	uc002ode.3	P36954	OTTHUMG00000181749	ENST00000221859.4:c.23A>T	19.37:g.36605736T>A	ENSP00000221859:p.Glu8Val		B2R5J2|Q6NW05	Missense_Mutation	SNP	ENST00000221859.4	37	CCDS12487.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563466	0.65651	.	.	ENSG00000105258	ENST00000221859	T	0.45668	0.89	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	L	0.29908	0.895	0.80722	D	1	B	0.22003	0.063	B	0.15052	0.012	T	0.07252	-1.0782	10	0.38643	T	0.18	-9.9224	13.6792	0.62474	0.0:0.0:0.0:1.0	.	8	P36954	RPB9_HUMAN	V	8	ENSP00000221859:E8V	ENSP00000221859:E8V	E	-	2	0	POLR2I	41297576	1.000000	0.71417	0.999000	0.59377	0.444000	0.32077	4.941000	0.63540	2.330000	0.79161	0.528000	0.53228	GAG		0.687	POLR2I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457442.1	NM_006233		A	36605736	T	A	36605736	3	1	396	1	0	0	0	0	1	0	0	0	12224	1551	54	5	378	5	POLR2I	19	36605736	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08	17615616	36605736	22523247	86	21951											
PTOV1	53635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50358129	50358129	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:50358129T>C	ENST00000601675.1	+	4	538	c.434T>C	c.(433-435)aTc>aCc	p.I145T	PTOV1_ENST00000391842.1_Missense_Mutation_p.I145T|PTOV1_ENST00000601638.1_Missense_Mutation_p.I113T|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000221557.9_Missense_Mutation_p.I113T|PTOV1_ENST00000600603.1_Missense_Mutation_p.I113T|AC018766.5_ENST00000593654.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000599732.1_Missense_Mutation_p.I145T|MIR4749_ENST00000578197.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.I145T(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ATGCAGCTGATCCCTCAGCAG	0.657																																																1	Substitution - Missense(1)	kidney(1)											34	36	35					19																	50358129		2203	4300	6503	SO:0001583	missense	53635			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.434T>C	19.37:g.50358129T>C	ENSP00000472816:p.Ile145Thr		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	37	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919040	0.52546	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.43	2.4	0.29515	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.522374	0.17885	N	0.158732	T	0.71358	0.3330	L	0.56769	1.78	0.46131	D	0.998881	P;B;B	0.34892	0.474;0.004;0.118	P;B;B	0.55923	0.787;0.03;0.29	T	0.70781	-0.4779	9	0.87932	D	0	-52.5191	7.3961	0.26938	0.0:0.1112:0.0:0.8888	.	113;145;113	B4DG17;Q86YD1;Q86YD1-2	.;PTOV1_HUMAN;.	T	113;145	.	ENSP00000221557:I113T	I	+	2	0	PTOV1	55049941	1.000000	0.71417	0.989000	0.46669	0.857000	0.48899	3.503000	0.53340	0.677000	0.31305	0.460000	0.39030	ATC		0.657	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		C	50358129	T	C	50358129	3	2	396	1	0	0	0	0	1	0	0	0	12775	1435	50	3	448	3	PTOV1	19	50358129	Missense_Mutation	SNP	T	TCGA-BP-4985-01A-01D-1462-08	13752393	50358129	8770854	87	21952											
ZNF665	79788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53668435	53668435	+	Silent	SNP	G	G	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr19:53668435G>T	ENST00000600412.1	-	2	1228	c.1113C>A	c.(1111-1113)ggC>ggA	p.G371G	ZNF665_ENST00000396424.3_Silent_p.G436G|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G371G(1)|p.G436G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TAAAGGCTTTGCCACACTCAT	0.408																																																2	Substitution - coding silent(2)	kidney(2)											83	87	86					19																	53668435		2203	4300	6503	SO:0001819	synonymous_variant	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1113C>A	19.37:g.53668435G>T			A8K5T8	Silent	SNP	ENST00000600412.1	37																																																																																					0.408	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		T	53668435	G	T	53668435	2	4	396	1	0	0	0	0	0	0	0	1	18078	1306	46	4		4	ZNF665	19	53668435	Silent	SNP	G	TCGA-BP-4985-01A-01D-1462-08	3310306	53668435	5460548	88	21953											
SLC4A11	83959	broad.mit.edu;ucsc.edu	37	20	3211240	3211240	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr20:3211240A>G	ENST00000380056.3	-	11	1431	c.1384T>C	c.(1384-1386)Tgg>Cgg	p.W462R	SLC4A11_ENST00000539553.2_Missense_Mutation_p.W446R|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Missense_Mutation_p.W489R	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	462	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.W462R(1)|p.W489R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGGCCCGTCCATGCGTAGAAG	0.567																																					NSCLC(190;922 2139 10266 10292 38692)											2	Substitution - Missense(2)	kidney(2)											102	104	104					20																	3211240		2203	4300	6503	SO:0001583	missense	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1384T>C	20.37:g.3211240A>G	ENSP00000369396:p.Trp462Arg		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739587	0.49045	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.81330	-1.48;-1.48;-1.48	4.91	4.91	0.64330	Bicarbonate transporter, C-terminal (1);	0.063363	0.64402	D	0.000002	D	0.90559	0.7041	M	0.89163	3.01	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.72982	0.949;0.979;0.97	D	0.92168	0.5741	10	0.62326	D	0.03	.	14.4966	0.67691	1.0:0.0:0.0:0.0	.	446;489;462	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	R	489;462;446	ENSP00000369399:W489R;ENSP00000369396:W462R;ENSP00000441370:W446R	ENSP00000369396:W462R	W	-	1	0	SLC4A11	3159240	1.000000	0.71417	0.926000	0.36857	0.326000	0.28443	7.105000	0.77031	1.968000	0.57251	0.460000	0.39030	TGG		0.567	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			G	3211240	A	G	3211240	3	3	396	1	0	0	0	0	1	0	0	0	14658	217	8	3	1327	3	SLC4A11	20	3211240	Missense_Mutation	SNP	A	TCGA-BP-4985-01A-01D-1462-08		3211240	59814280	89	21954											
DOPEY2	9980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37603371	37603371	+	Silent	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr21:37603371C>T	ENST00000399151.3	+	14	2374	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	763					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.F763F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTGCCACTTTCCCTGTCTACC	0.612																																																1	Substitution - coding silent(1)	kidney(1)											73	69	70					21																	37603371		2203	4299	6502	SO:0001819	synonymous_variant	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2289C>T	21.37:g.37603371C>T			D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	CCDS13643.1																																																																																				0.612	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		T	37603371	C	T	37603371	2	4	396	1	0	0	0	0	0	0	0	1	4710	854	30	2		2	DOPEY2	21	37603371	Silent	SNP	C	TCGA-BP-4985-01A-01D-1462-08		37603371	10526524	90	21955											
ZNF295	49854	broad.mit.edu;hgsc.bcm.edu	37	21	43413025	43413025	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr21:43413025C>T	ENST00000310826.5	-	3	1363	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T	ZBTB21_ENST00000398511.3_Missense_Mutation_p.A394T|ZBTB21_ENST00000398499.1_Missense_Mutation_p.A394T|ZBTB21_ENST00000398505.3_Missense_Mutation_p.A394T|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	394					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.A394T(1)									TCATCTAGGGCTGTTTTTTCA	0.488																																																1	Substitution - Missense(1)	kidney(1)											79	82	81					21																	43413025		2203	4300	6503	SO:0001583	missense	0			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.1180G>A	21.37:g.43413025C>T	ENSP00000308759:p.Ala394Thr		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778356	0.49786	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08634	3.39;3.07;3.07;3.07	5.95	4.16	0.48862	.	0.587641	0.17046	N	0.189140	T	0.10766	0.0263	L	0.57536	1.79	0.09310	N	1	B;B	0.19331	0.035;0.001	B;B	0.20184	0.028;0.003	T	0.15350	-1.0440	10	0.41790	T	0.15	-11.9161	10.7685	0.46308	0.0:0.798:0.0:0.202	.	394;394	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	T	394	ENSP00000381517:A394T;ENSP00000308759:A394T;ENSP00000381512:A394T;ENSP00000381523:A394T	ENSP00000308759:A394T	A	-	1	0	ZNF295	42286094	0.000000	0.05858	0.042000	0.18584	0.887000	0.51463	0.015000	0.13355	0.867000	0.35654	0.655000	0.94253	GCC		0.488	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		T	43413025	C	T	43413025	3	4	396	1	0	0	0	0	1	0	0	0	17832	797	28	2	2024	2	ZNF295	21	43413025	Missense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	5809654	43413025	4716870	91	21956											
MAPK8IP2	23542	broad.mit.edu	37	22	51042064	51042064	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chr22:51042064A>C	ENST00000329492.3	+	4	574	c.457A>C	c.(457-459)Aac>Cac	p.N153H	MAPK8IP2_ENST00000399912.1_5'UTR|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.N153H|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000008876.5_Intron	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	153	JNK-binding domain (JBD).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.N153H(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGACTCCCTAAACAACAACGG	0.667																																																2	Substitution - Missense(2)	kidney(2)											15	17	16					22																	51042064		2017	4164	6181	SO:0001583	missense	23542			AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.457A>C	22.37:g.51042064A>C	ENSP00000330572:p.Asn153His		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000329492.3	37		.	.	.	.	.	.	.	.	.	.	A	20.6	4.013715	0.75161	.	.	ENSG00000008735	ENST00000329492;ENST00000442429	T;T	0.69685	-0.02;-0.42	4.35	4.35	0.52113	.	0.051151	0.85682	D	0.000000	T	0.78368	0.4272	M	0.67397	2.05	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.995	T	0.80551	-0.1332	10	0.72032	D	0.01	-9.5918	11.8544	0.52429	1.0:0.0:0.0:0.0	.	126;153	E7EQG6;Q13387	.;JIP2_HUMAN	H	153	ENSP00000330572:N153H;ENSP00000404914:N153H	ENSP00000330572:N153H	N	+	1	0	MAPK8IP2	49388930	.	.	0.997000	0.53966	0.776000	0.43924	.	.	1.968000	0.57251	0.374000	0.22700	AAC		0.667	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012324		C	51042064	A	C	51042064	3	2	396	1	0	0	0	0	1	0	0	0	9287	14	1	5	561	5	MAPK8IP2	22	51042064	Missense_Mutation	SNP	A	TCGA-BP-4985-01A-01D-1462-08		51042064	262502	92	21957											
SLC6A14	11254	hgsc.bcm.edu	37	X	115572174	115572175	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chrX:115572174_115572175insG	ENST00000371900.4	+	3	343_344	c.255_256insG	c.(256-258)ggtfs	p.G86fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	86					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TAGCATTGGCTGGTTTACCTTT	0.406																																																0																																										SO:0001589	frameshift_variant	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.257dupG	X.37:g.115572176_115572176dupG	ENSP00000360967:p.Gly86fs		Q5H942	Frame_Shift_Ins	INS	ENST00000371900.4	37	CCDS14570.1																																																																																				0.406	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			G	115572175	-	G	115572174	7	5	396	1	0	1	1	0	0	0	0	0	14683	1567	55	0	265	0	SLC6A14	23	115572174	Frame_Shift_Ins	INS	-	TCGA-BP-4985-01A-01D-1462-08		115572174	39698386	93	21958											
STAG2	10735	broad.mit.edu;hgsc.bcm.edu	37	X	123197044	123197044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4985-01A-01D-1462-08	TCGA-BP-4985-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	e56acfea-aec6-4102-8fe0-25df396c10ae	3c2a1dd1-1800-482c-97c6-a20e014864c2	g.chrX:123197044C>T	ENST00000371160.1	+	19	2100	c.1810C>T	c.(1810-1812)Cga>Tga	p.R604*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R535*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R604*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R604*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R604*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R604*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	604					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R604*(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TACCACTGGACGATTAGAAAA	0.289																																																2	Substitution - Nonsense(2)	kidney(2)											56	54	54					X																	123197044		2203	4300	6503	SO:0001587	stop_gained	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1810C>T	X.37:g.123197044C>T	ENSP00000360202:p.Arg604*		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	39	7.657845	0.98415	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.41	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7315	13.1438	0.59450	0.2898:0.7102:0.0:0.0	.	.	.	.	X	604;535;604;604;604;604	.	ENSP00000218089:R604X	R	+	1	2	STAG2	123024725	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	2.023000	0.41040	1.030000	0.39839	0.544000	0.68410	CGA		0.289	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		T	123197044	C	T	123197044	4	4	396	1	0	0	0	0	0	1	0	0	15248	528	19	1	1876	1	STAG2	23	123197044	Nonsense_Mutation	SNP	C	TCGA-BP-4985-01A-01D-1462-08	7624870	123197044	32073516	94	21959											
ATAD3A	55210	broad.mit.edu;ucsc.edu	37	1	1459280	1459280	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr1:1459280G>A	ENST00000378755.5	+	10	1263	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	ATAD3A_ENST00000536055.1_Missense_Mutation_p.R263H|ATAD3A_ENST00000378756.3_Missense_Mutation_p.R342H	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	390					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.R390H(1)		endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		AAGAAGAACCGCAGCCTGTAC	0.627																																																1	Substitution - Missense(1)	kidney(1)											122	116	118					1																	1459280		2203	4300	6503	SO:0001583	missense	55210			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1169G>A	1.37:g.1459280G>A	ENSP00000368030:p.Arg390His		B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	CCDS31.1	.	.	.	.	.	.	.	.	.	.	g	5.448	0.267669	0.10294	.	.	ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055	T;T;T	0.79247	-1.25;-1.25;-1.25	4.7	-6.11	0.02131	.	0.705172	0.13304	N	0.398006	T	0.68961	0.3058	L	0.56769	1.78	0.09310	N	1	B;B	0.16166	0.006;0.016	B;B	0.13407	0.003;0.009	T	0.53669	-0.8406	10	0.40728	T	0.16	.	13.3235	0.60447	0.8635:0.0:0.1365:0.0	.	342;390	D2K8Q1;Q9NVI7	.;ATD3A_HUMAN	H	342;390;263	ENSP00000368031:R342H;ENSP00000368030:R390H;ENSP00000439290:R263H	ENSP00000368030:R390H	R	+	2	0	ATAD3A	1449143	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.106000	0.15354	-1.079000	0.03113	-0.471000	0.05019	CGC		0.627	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		A	1459280	G	A	1459280	3	1	397	1	0	0	0	0	1	0	0	0	1073	1087	38	1	1207	1	ATAD3A	1	1459280	Missense_Mutation	SNP	G	TCGA-BP-4986-01A-01D-1462-08		1459280	247791341	1	21960											
KLHDC7A	127707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	18807868	18807868	+	Silent	SNP	G	G	A			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr1:18807868G>A	ENST00000400664.1	+	1	445	c.393G>A	c.(391-393)tcG>tcA	p.S131S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	131						integral component of membrane (GO:0016021)		p.S131S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGGGCTCGGACTCTGAGC	0.632																																																1	Substitution - coding silent(1)	kidney(1)											25	31	29					1																	18807868		2030	4181	6211	SO:0001819	synonymous_variant	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.393G>A	1.37:g.18807868G>A			Q8N8W6	Silent	SNP	ENST00000400664.1	37	CCDS185.2																																																																																				0.632	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		A	18807868	G	A	18807868	2	1	397	1	0	0	0	0	0	0	0	1	8362	1103	39	1		1	KLHDC7A	1	18807868	Silent	SNP	G	TCGA-BP-4986-01A-01D-1462-08	17348588	18807868	230442753	2	21961											
PIGC	5279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	172411549	172411549	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr1:172411549A>T	ENST00000367728.1	-	1	1677	c.214T>A	c.(214-216)Tgg>Agg	p.W72R	PIGC_ENST00000344529.4_Missense_Mutation_p.W72R|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.W72R			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	72					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.W72R(1)		breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ATATACCACCAGATAACCACA	0.458																																																1	Substitution - Missense(1)	kidney(1)											108	110	109					1																	172411549		2203	4300	6503	SO:0001583	missense	5279			BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8960	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase"	601730	"phosphatidylinositol glycan, class C"			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.214T>A	1.37:g.172411549A>T	ENSP00000356702:p.Trp72Arg		O14491	Missense_Mutation	SNP	ENST00000367728.1	37	CCDS1302.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184581	0.78677	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.46451	0.87;0.87;0.87	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	M	0.66939	2.045	0.80722	D	1	P	0.35107	0.484	P	0.47786	0.557	T	0.50955	-0.8766	10	0.66056	D	0.02	-15.1063	13.8968	0.63778	1.0:0.0:0.0:0.0	.	72	Q92535	PIGC_HUMAN	R	72	ENSP00000356701:W72R;ENSP00000356702:W72R;ENSP00000258324:W72R	ENSP00000258324:W72R	W	-	1	0	PIGC	170678172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.793000	0.91862	1.970000	0.57323	0.533000	0.62120	TGG		0.458	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		T	172411549	A	T	172411549	3	4	397	1	0	0	0	0	1	0	0	0	11888	188	7	5	683	5	PIGC	1	172411549	Missense_Mutation	SNP	A	TCGA-BP-4986-01A-01D-1462-08	153603681	172411549	76839072	3	21962											
NCF2	4688	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183532672	183532672	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr1:183532672T>A	ENST00000367535.3	-	12	1326	c.1075A>T	c.(1075-1077)Aag>Tag	p.K359*	NCF2_ENST00000413720.1_Nonsense_Mutation_p.K314*|NCF2_ENST00000418089.1_Nonsense_Mutation_p.K278*|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000367536.1_Nonsense_Mutation_p.K359*	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	359	OPR.				aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.K359*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ACCGTGTACTTGTAGTGCACC	0.542																																																1	Substitution - Nonsense(1)	kidney(1)											125	109	115					1																	183532672		2203	4300	6503	SO:0001587	stop_gained	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1075A>T	1.37:g.183532672T>A	ENSP00000356505:p.Lys359*		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Nonsense_Mutation	SNP	ENST00000367535.3	37	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	T	40	7.952327	0.98580	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	.	.	.	5.74	5.74	0.90152	.	0.196194	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-59.1101	14.6438	0.68745	0.0:0.0:0.0:1.0	.	.	.	.	X	359;431;314;278;359;10;98	.	ENSP00000356505:K359X	K	-	1	0	NCF2	181799295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.266000	0.65525	2.202000	0.70862	0.529000	0.55759	AAG		0.542	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		A	183532672	T	A	183532672	4	1	397	1	0	0	0	0	0	1	0	0	10219	1821	63	5	521	5	NCF2	1	183532672	Nonsense_Mutation	SNP	T	TCGA-BP-4986-01A-01D-1462-08	11121123	183532672	65717949	4	21963											
DEGS1	8560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	224377767	224377767	+	Missense_Mutation	SNP	G	G	A	rs188450448		TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr1:224377767G>A	ENST00000323699.4	+	2	737	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	DEGS1_ENST00000391877.3_Missense_Mutation_p.V191M	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	191					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.V191M(1)		breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TATCAATACCGTGGCACAGGT	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		19389	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	MET/VAL	0,4406		0,0,2203	179	181	180		571	4	0	1		180	1,8599	1.2+/-3.3	0,1,4299	no	missense	DEGS1	NM_003676.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	191/324	224377767	1,13005	2203	4300	6503	SO:0001583	missense	8560			AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"Fatty acid desaturases"	13709	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 1", "dihydroceramide desaturase 1"	615843	"degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.571G>A	1.37:g.224377767G>A	ENSP00000316476:p.Val191Met			Missense_Mutation	SNP	ENST00000323699.4	37	CCDS1540.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.557	0.287687	0.10513	0.0	1.16E-4	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.18657	2.2;2.2;2.2	6.02	4.02	0.46733	Fatty acid desaturase, type 1 (1);	0.389827	0.28677	N	0.014514	T	0.21509	0.0518	L	0.57536	1.79	0.09310	N	1	P;B	0.34662	0.462;0.216	B;B	0.33254	0.16;0.058	T	0.14254	-1.0479	10	0.49607	T	0.09	.	11.3647	0.49664	0.0765:0.0:0.7567:0.1669	.	191;170	O15121;E7EMA0	DEGS1_HUMAN;.	M	170;191;191	ENSP00000400545:V170M;ENSP00000316476:V191M;ENSP00000375749:V191M	ENSP00000316476:V191M	V	+	1	0	DEGS1	222444390	0.000000	0.05858	0.016000	0.15963	0.003000	0.03518	0.035000	0.13797	1.566000	0.49654	0.549000	0.68633	GTG		0.393	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			A	224377767	G	A	224377767	3	1	397	1	0	0	0	0	1	0	0	0	4424	1145	40	1	577	1	DEGS1	1	224377767	Missense_Mutation	SNP	G	TCGA-BP-4986-01A-01D-1462-08	40845095	224377767	24872854	5	21964											
OR2T10	127069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	248756885	248756885	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr1:248756885A>C	ENST00000330500.2	-	1	215	c.185T>G	c.(184-186)tTt>tGt	p.F62C	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F62C(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGGTTTATAAAGAAGTACAT	0.408																																																1	Substitution - Missense(1)	kidney(1)											79	89	86					1																	248756885		2049	4235	6284	SO:0001583	missense	127069				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.185T>G	1.37:g.248756885A>C	ENSP00000329210:p.Phe62Cys		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	11.68	1.710242	0.30322	.	.	ENSG00000184022	ENST00000330500	T	0.14766	2.48	2.34	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30696	0.0773	H	0.95224	3.64	0.21256	N	0.999743	P	0.36577	0.558	B	0.41894	0.369	T	0.21930	-1.0231	9	0.87932	D	0	.	7.1223	0.25453	0.7695:0.2305:0.0:0.0	.	62	Q8NGZ9	O2T10_HUMAN	C	62	ENSP00000329210:F62C	ENSP00000329210:F62C	F	-	2	0	OR2T10	246823508	0.966000	0.33281	0.483000	0.27378	0.940000	0.58332	5.209000	0.65208	0.027000	0.15297	0.362000	0.22060	TTT		0.408	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		C	248756885	A	C	248756885	3	2	397	1	0	0	0	0	1	0	0	0	11019	14	1	5	756	5	OR2T10	1	248756885	Missense_Mutation	SNP	A	TCGA-BP-4986-01A-01D-1462-08	24379118	248756885	493736	6	21965											
CAD	790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27457500	27457500	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr2:27457500G>A	ENST00000403525.1	+	22	3688	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K	CAD_ENST00000264705.4_Missense_Mutation_p.E1245K			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.E1245K(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCATGGGGGAAGAAGTGGA	0.517																																																1	Substitution - Missense(1)	kidney(1)											111	105	107					2																	27457500		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3544G>A	2.37:g.27457500G>A	ENSP00000384510:p.Glu1182Lys		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	G	14.13	2.443227	0.43429	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	T;T	0.62364	0.03;0.03	5.43	5.43	0.79202	ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	N	0.25286	0.73	0.80722	D	1	B;P	0.44521	0.074;0.837	B;B	0.44315	0.064;0.446	T	0.45527	-0.9255	10	0.07813	T	0.8	-1.8425	18.1729	0.89752	0.0:0.0:1.0:0.0	.	1182;1245	F8VPD4;P27708	.;PYR1_HUMAN	K	1245;1182	ENSP00000264705:E1245K;ENSP00000384510:E1182K	ENSP00000264705:E1245K	E	+	1	0	CAD	27311004	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.231000	0.78106	2.696000	0.92011	0.655000	0.94253	GAA		0.517	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			A	27457500	G	A	27457500	3	1	397	1	0	0	0	0	1	0	0	0	2567	1175	41	2	3823	2	CAD	2	27457500	Missense_Mutation	SNP	G	TCGA-BP-4986-01A-01D-1462-08		27457500	215741873	7	21966											
PRKCE	5581	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	45879259	45879259	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr2:45879259T>A	ENST00000306156.3	+	1	347	c.20T>A	c.(19-21)cTt>cAt	p.L7H		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	7	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.L7H(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TTCAATGGCCTTCTTAAGATC	0.652																																																1	Substitution - Missense(1)	kidney(1)											36	41	39					2																	45879259		2201	4299	6500	SO:0001583	missense	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.20T>A	2.37:g.45879259T>A	ENSP00000306124:p.Leu7His		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.382690	0.42207	.	.	ENSG00000171132	ENST00000421201;ENST00000306156	T;T	0.10668	2.85;2.85	4.71	3.46	0.39613	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.789478	0.10990	N	0.611648	T	0.11537	0.0281	L	0.42245	1.32	0.80722	D	1	P	0.37158	0.585	B	0.40329	0.326	T	0.14699	-1.0463	10	0.15952	T	0.53	.	10.2021	0.43089	0.1486:0.0:0.0:0.8514	.	7	Q02156	KPCE_HUMAN	H	7	ENSP00000394574:L7H;ENSP00000306124:L7H	ENSP00000306124:L7H	L	+	2	0	PRKCE	45732763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.309000	0.51903	1.749000	0.51849	0.459000	0.35465	CTT		0.652	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			A	45879259	T	A	45879259	3	1	397	1	0	0	0	0	1	0	0	0	12516	1609	56	5	22	5	PRKCE	2	45879259	Missense_Mutation	SNP	T	TCGA-BP-4986-01A-01D-1462-08	18421759	45879259	197320114	8	21967											
VPS54	51542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	64160992	64160992	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr2:64160992T>C	ENST00000272322.4	-	12	1708	c.1554A>G	c.(1552-1554)atA>atG	p.I518M	VPS54_ENST00000409558.4_Missense_Mutation_p.I506M|VPS54_ENST00000354504.3_Missense_Mutation_p.I365M			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	518					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.I518M(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ATGCATCACTTATAAACATGC	0.423																																																1	Substitution - Missense(1)	kidney(1)											169	138	148					2																	64160992		2203	4300	6503	SO:0001583	missense	51542			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1554A>G	2.37:g.64160992T>C	ENSP00000272322:p.Ile518Met		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327728	0.41197	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.36878	1.23;1.32;1.32	4.97	2.49	0.30216	.	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	L	0.59436	1.845	0.53005	D	0.999968	P;P;P	0.46512	0.879;0.808;0.879	B;B;P	0.46253	0.441;0.312;0.509	T	0.16808	-1.0390	10	0.45353	T	0.12	.	8.5152	0.33242	0.1123:0.0:0.2064:0.6813	.	365;518;506	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	M	365;518;506;506;518	ENSP00000346499:I365M;ENSP00000272322:I518M;ENSP00000386980:I506M	ENSP00000272322:I518M	I	-	3	3	VPS54	64014496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.425000	0.34859	1.990000	0.58119	0.460000	0.39030	ATA		0.423	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		C	64160992	T	C	64160992	3	2	397	1	0	0	0	0	1	0	0	0	17221	1744	61	3	1427	3	VPS54	2	64160992	Missense_Mutation	SNP	T	TCGA-BP-4986-01A-01D-1462-08	18281733	64160992	179038381	9	21968											
STEAP3	55240	hgsc.bcm.edu	37	2	120003082	120003090	+	In_Frame_Del	DEL	GAGATGGAC	GAGATGGAC	-	rs149645383|rs202057547	byFrequency	TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	GAGATGGAC	GAGATGGAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr2:120003082_120003090delGAGATGGAC	ENST00000354888.5	+	3	514_522	c.10_18delGAGATGGAC	c.(10-18)gagatggacdel	p.EMD4del	STEAP3_ENST00000393106.2_In_Frame_Del_p.EMD4del|STEAP3_ENST00000393107.2_In_Frame_Del_p.EMD4del|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_In_Frame_Del_p.EMD4del|STEAP3_ENST00000393108.2_In_Frame_Del_p.EMD4del|STEAP3_ENST00000450943.2_In_Frame_Del_p.EMD4del|STEAP3_ENST00000393110.2_In_Frame_Del_p.EMD14del|STEAP3_ENST00000409811.1_In_Frame_Del_p.EMD4del	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	4					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						AATGCCAGAAGAGATGGACAAGCCACTGA	0.579																																																0																																										SO:0001651	inframe_deletion	55240			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.10_18delGAGATGGAC	2.37:g.120003082_120003090delGAGATGGAC	ENSP00000346961:p.Glu4_Asp6del		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	In_Frame_Del	DEL	ENST00000354888.5	37	CCDS2125.1																																																																																				0.579	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		-	120003090	GAGATGGAC	-	120003082	7	5	397	1	0	1	0	1	0	0	0	0	15284	943	33	0	46	0	STEAP3	2	120003082	In_Frame_Del	DEL	GAGATGGAC	TCGA-BP-4986-01A-01D-1462-08	55842090	120003082	123196291	10	21969											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179664360	179664360	+	Silent	SNP	C	C	T			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr2:179664360C>T	ENST00000591111.1	-	6	992	c.768G>A	c.(766-768)agG>agA	p.R256R	TTN_ENST00000342175.6_Silent_p.R256R|TTN_ENST00000589042.1_Silent_p.R256R|TTN_ENST00000342992.6_Silent_p.R256R|TTN_ENST00000359218.5_Silent_p.R256R|TTN_ENST00000460472.2_Silent_p.R256R|TTN_ENST00000360870.5_Silent_p.R256R			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.				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)	p.R256R(6)|p.R256_K260>K(1)		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)			TCGGAGGAATCCTGGGAGGTG	0.532																																																7	Substitution - coding silent(6)|Complex - deletion inframe(1)	kidney(6)|ovary(1)											121	114	116					2																	179664360		2203	4300	6503	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.768G>A	2.37:g.179664360C>T			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.532	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179664360	C	T	179664360	2	4	397	1	0	0	0	0	0	0	0	1	16740	854	30	2		2	TTN	2	179664360	Silent	SNP	C	TCGA-BP-4986-01A-01D-1462-08	59661278	179664360	63535013	11	21970											
VHL	7428	hgsc.bcm.edu	37	3	10188262	10188262	+	Missense_Mutation	SNP	A	A	T	rs119103278|rs397516442		TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr3:10188262A>T	ENST00000256474.2	+	2	1245	c.405A>T	c.(403-405)ttA>ttT	p.L135F	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	135	Involved in binding to CCT complex.		L -> F (in hemangioblastoma). {ECO:0000269|PubMed:8069849}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L135fs*24(3)|p.V137fs*7(3)|p.L135F(1)|p.?fs(1)|p.N131fs*7(1)|p.L135fs*7(1)|p.E134fs*7(1)|p.L135fs*9(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AAACTGAATTATTTGTGCCAT	0.433		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Deletion - Frameshift(6)|Insertion - Frameshift(5)|Substitution - Missense(1)	kidney(11)|soft_tissue(1)											214	199	204					3																	10188262		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.405A>T	3.37:g.10188262A>T	ENSP00000256474:p.Leu135Phe		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891757	0.72524	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99806	-6.84	5.07	-2.96	0.05547	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.254096	0.33290	N	0.005074	D	0.98400	0.9468	L	0.43152	1.355	0.58432	D	0.999998	P	0.44776	0.843	B	0.42851	0.4	D	0.94170	0.7422	10	0.72032	D	0.01	-2.9719	3.6055	0.08041	0.2483:0.1432:0.4687:0.1398	.	135	P40337	VHL_HUMAN	F	135;53	ENSP00000256474:L135F	ENSP00000256474:L135F	L	+	3	2	VHL	10163262	0.927000	0.31430	0.316000	0.25252	0.888000	0.51559	-0.134000	0.10436	-0.460000	0.07003	0.460000	0.39030	TTA		0.433	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188262	A	T	10188262	3	4	397	1	0	0	0	0	1	0	0	0	17167	446	16	5	411	5	VHL	3	10188262	Missense_Mutation	SNP	A	TCGA-BP-4986-01A-01D-1462-08		10188262	187834168	12	21971											
EPHA5	2044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	66213782	66213782	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr4:66213782G>C	ENST00000273854.3	-	15	3248	c.2648C>G	c.(2647-2649)aCc>aGc	p.T883S	EPHA5_ENST00000354839.4_Missense_Mutation_p.T861S|EPHA5_ENST00000432638.2_Missense_Mutation_p.T720S|EPHA5_ENST00000511294.1_Missense_Mutation_p.T884S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	883	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.T883S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCTTGATTGGTCATCTCCCA	0.398										TSP Lung(17;0.13)																																						1	Substitution - Missense(1)	kidney(1)											179	162	168					4																	66213782		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2648C>G	4.37:g.66213782G>C	ENSP00000273854:p.Thr883Ser		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	6.897	0.534950	0.13188	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.86	5.86	0.93980	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.32164	0.0820	N	0.02539	-0.55	0.46631	D	0.999135	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.09377	0.002;0.004;0.001;0.003	T	0.40757	-0.9546	10	0.02654	T	1	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	862;884;861;883	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	883;720;861;884	ENSP00000273854:T883S;ENSP00000389208:T720S;ENSP00000346899:T861S;ENSP00000427638:T884S	ENSP00000273854:T883S	T	-	2	0	EPHA5	65896377	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.278000	0.65592	2.771000	0.95319	0.650000	0.86243	ACC		0.398	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		C	66213782	G	C	66213782	3	2	397	1	0	0	0	0	1	0	0	0	5172	1261	44	4	481	4	EPHA5	4	66213782	Missense_Mutation	SNP	G	TCGA-BP-4986-01A-01D-1462-08		66213782	124940494	13	21972											
ENAM	10117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71510239	71510239	+	Silent	SNP	C	C	A			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr4:71510239C>A	ENST00000396073.3	+	9	3377	c.3096C>A	c.(3094-3096)ggC>ggA	p.G1032G	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1032					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.G1032G(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATCCAGAAGGCATCCAAAGTC	0.428																																																1	Substitution - coding silent(1)	kidney(1)											121	105	110					4																	71510239		2203	4300	6503	SO:0001819	synonymous_variant	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3096C>A	4.37:g.71510239C>A			Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	CCDS3544.2																																																																																				0.428	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		A	71510239	C	A	71510239	2	1	397	1	0	0	0	0	0	0	0	1	5114	697	25	4		4	ENAM	4	71510239	Silent	SNP	C	TCGA-BP-4986-01A-01D-1462-08	5296457	71510239	119644037	14	21973											
F11	2160	broad.mit.edu;hgsc.bcm.edu	37	4	187208887	187208887	+	Silent	SNP	C	C	T			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr4:187208887C>T	ENST00000403665.2	+	14	1978	c.1626C>T	c.(1624-1626)aaC>aaT	p.N542N	F11_ENST00000264692.4_Silent_p.N490N|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	542	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.N542N(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAGTGACCAACGAAGAGTGCC	0.403																																																2	Substitution - coding silent(2)	kidney(1)|central_nervous_system(1)											91	89	90					4																	187208887		2203	4300	6503	SO:0001819	synonymous_variant	2160			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1626C>T	4.37:g.187208887C>T			D3DP64|Q4W5C2|Q9Y495	Silent	SNP	ENST00000403665.2	37	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.528329	0.00959	.	.	ENSG00000088926	ENST00000264691	.	.	.	4.92	-3.09	0.05331	.	.	.	.	.	T	0.29288	0.0729	.	.	.	0.21184	N	0.999763	.	.	.	.	.	.	T	0.36040	-0.9764	4	.	.	.	.	7.9248	0.29867	0.1095:0.4067:0.0:0.4839	.	.	.	.	M	76	.	.	T	+	2	0	F11	187445881	0.004000	0.15560	0.030000	0.17652	0.019000	0.09904	-0.087000	0.11215	-0.367000	0.08052	-0.415000	0.06103	ACG		0.403	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			T	187208887	C	T	187208887	2	4	397	1	0	0	0	0	0	0	0	1	5339	535	19	1		1	F11	4	187208887	Silent	SNP	C	TCGA-BP-4986-01A-01D-1462-08	115698648	187208887	3945389	15	21974											
PAIP1	10605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43555964	43555964	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr5:43555964A>T	ENST00000306846.3	-	2	635	c.403T>A	c.(403-405)Ttt>Att	p.F135I	PAIP1_ENST00000514514.1_Missense_Mutation_p.F56I|PAIP1_ENST00000338972.4_Missense_Mutation_p.F23I|PAIP1_ENST00000436644.2_Missense_Mutation_p.F56I	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	135	PABPC1-interacting motif-2 (PAM2).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.F135I(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GAAGGGTAAAATTCAGGGGCA	0.418																																																1	Substitution - Missense(1)	kidney(1)											133	144	140					5																	43555964		2203	4300	6503	SO:0001583	missense	10605			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.403T>A	5.37:g.43555964A>T	ENSP00000302768:p.Phe135Ile		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.904676	0.92035	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000515338	T;T;T;T;T;T	0.56611	1.3;1.34;0.59;1.36;0.45;0.61	5.63	5.63	0.86233	Ataxin-2, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62816	0.2459	L	0.29908	0.895	0.48975	D	0.999738	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.996	T	0.66901	-0.5806	10	0.87932	D	0	-9.2022	15.8204	0.78638	1.0:0.0:0.0:0.0	.	56;135;56	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	I	135;56;23;56;23;23;23	ENSP00000302768:F135I;ENSP00000387729:F56I;ENSP00000339622:F23I;ENSP00000425084:F56I;ENSP00000425675:F23I;ENSP00000425736:F23I	ENSP00000302768:F135I	F	-	1	0	PAIP1	43591721	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.657000	0.74402	2.142000	0.66516	0.459000	0.35465	TTT		0.418	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		T	43555964	A	T	43555964	3	4	397	1	0	0	0	0	1	0	0	0	11398	101	4	5	1076	5	PAIP1	5	43555964	Missense_Mutation	SNP	A	TCGA-BP-4986-01A-01D-1462-08		43555964	137359296	16	21975											
PCDHA9	9752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140230078	140230078	+	Silent	SNP	G	G	A			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr5:140230078G>A	ENST00000532602.1	+	1	3031	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.L666L|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	666	Cadherin 6. {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)	p.L666L(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGTGCTGGTGTCGCTGG	0.687																																					Melanoma(55;1800 1972 14909)											2	Substitution - coding silent(2)	kidney(2)											43	47	46					5																	140230078		2197	4268	6465	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1998G>A	5.37:g.140230078G>A			O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.687	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		A	140230078	G	A	140230078	2	1	397	1	0	0	0	0	0	0	0	1	11533	1335	47	2		2	PCDHA9	5	140230078	Silent	SNP	G	TCGA-BP-4986-01A-01D-1462-08	96674114	140230078	40685182	17	21976											
SLC25A2	83884	broad.mit.edu;ucsc.edu	37	5	140682821	140682821	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr5:140682821T>G	ENST00000239451.4	-	1	791	c.612A>C	c.(610-612)aaA>aaC	p.K204N		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	204					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.K204N(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CTAGTTCATCTTTTGATCTCC	0.438																																																1	Substitution - Missense(1)	kidney(1)											109	109	109					5																	140682821		2203	4300	6503	SO:0001583	missense	83884			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.612A>C	5.37:g.140682821T>G	ENSP00000239451:p.Lys204Asn		Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.320553	0.41096	.	.	ENSG00000120329	ENST00000239451	T	0.78003	-1.14	3.78	2.64	0.31445	Mitochondrial carrier domain (2);	0.105430	0.64402	D	0.000006	T	0.68577	0.3016	L	0.58302	1.8	0.58432	D	0.999998	P	0.45672	0.864	B	0.40165	0.321	T	0.65105	-0.6249	10	0.42905	T	0.14	-22.3666	5.4373	0.16488	0.0:0.1807:0.0:0.8193	.	204	Q9BXI2	ORNT2_HUMAN	N	204	ENSP00000239451:K204N	ENSP00000239451:K204N	K	-	3	2	SLC25A2	140663005	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	1.211000	0.32382	0.826000	0.34661	0.528000	0.53228	AAA		0.438	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		G	140682821	T	G	140682821	3	3	397	1	0	0	0	0	1	0	0	0	14488	1606	56	5	297	5	SLC25A2	5	140682821	Missense_Mutation	SNP	T	TCGA-BP-4986-01A-01D-1462-08	452743	140682821	40232439	18	21977											
NKAPL	222698	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28227271	28227271	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr6:28227271C>T	ENST00000343684.3	+	1	174	c.122C>T	c.(121-123)tCc>tTc	p.S41F	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	41								p.S41F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GATGGCTGTTCCCGCTCTCAC	0.652																																																1	Substitution - Missense(1)	kidney(1)											44	45	45					6																	28227271		2203	4300	6503	SO:0001583	missense	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.122C>T	6.37:g.28227271C>T	ENSP00000345716:p.Ser41Phe		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414159	0.25465	.	.	ENSG00000189134	ENST00000343684	T	0.15372	2.43	4.11	0.367	0.16140	.	2.069380	0.02215	N	0.063533	T	0.05456	0.0144	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30387	-0.9980	10	0.39692	T	0.17	3.5053	3.6802	0.08308	0.0:0.4946:0.1919:0.3135	.	41	Q5M9Q1	NKAPL_HUMAN	F	41	ENSP00000345716:S41F	ENSP00000345716:S41F	S	+	2	0	NKAPL	28335250	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.051000	0.14141	-0.045000	0.13468	0.609000	0.83330	TCC		0.652	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			T	28227271	C	T	28227271	3	4	397	1	0	0	0	0	1	0	0	0	10442	855	30	2	124	2	NKAPL	6	28227271	Missense_Mutation	SNP	C	TCGA-BP-4986-01A-01D-1462-08		28227271	142887796	19	21978											
BRD2	6046	broad.mit.edu;hgsc.bcm.edu	37	6	32943251	32943251	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr6:32943251A>G	ENST00000374825.4	+	4	2125	c.424A>G	c.(424-426)Atg>Gtg	p.M142V	BRD2_ENST00000443797.2_Missense_Mutation_p.M22V|BRD2_ENST00000395289.2_Missense_Mutation_p.M142V|BRD2_ENST00000449085.2_Missense_Mutation_p.M95V|XXbac-BPG181M17.6_ENST00000580587.1_RNA|BRD2_ENST00000395287.1_Missense_Mutation_p.M142V|BRD2_ENST00000374831.4_Missense_Mutation_p.M142V	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	142	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.M142V(1)		central_nervous_system(3)|stomach(2)	5						TTCAGAGTGTATGCAAGATTT	0.333																																																1	Substitution - Missense(1)	kidney(1)											93	90	91					6																	32943251		1510	2709	4219	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.424A>G	6.37:g.32943251A>G	ENSP00000363958:p.Met142Val		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290775	0.59976	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.63	5.63	0.86233	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000008	T	0.08223	0.0205	N	0.03304	-0.355	0.80722	D	1	B;B	0.30870	0.298;0.124	B;B	0.35278	0.199;0.199	T	0.22417	-1.0217	10	0.29301	T	0.29	-21.5421	13.8401	0.63432	1.0:0.0:0.0:0.0	.	142;142	A2AAU0;P25440	.;BRD2_HUMAN	V	142;142;142;22;142;95	ENSP00000363958:M142V;ENSP00000363964:M142V;ENSP00000378704:M142V;ENSP00000413495:M22V;ENSP00000378702:M142V;ENSP00000409145:M95V	ENSP00000363958:M142V	M	+	1	0	BRD2	33051229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.093000	0.76937	2.363000	0.80096	0.523000	0.50628	ATG		0.333	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			G	32943251	A	G	32943251	3	3	397	1	0	0	0	0	1	0	0	0	1504	449	16	3	434	3	BRD2	6	32943251	Missense_Mutation	SNP	A	TCGA-BP-4986-01A-01D-1462-08	4715980	32943251	138171816	20	21979											
KIAA1009	22832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	84894950	84894950	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr6:84894950T>C	ENST00000403245.3	-	13	1732	c.1618A>G	c.(1618-1620)Aaa>Gaa	p.K540E	KIAA1009_ENST00000257766.4_Missense_Mutation_p.K464E|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.K540E(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTCAAGTTTTTGCTTTTTATA	0.348																																																1	Substitution - Missense(1)	kidney(1)											87	84	85					6																	84894950		2203	4300	6503	SO:0001583	missense	22832																														ENST00000403245.3:c.1618A>G	6.37:g.84894950T>C	ENSP00000385215:p.Lys540Glu			Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	T	3.444	-0.113421	0.06881	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.17528	2.27;2.27	5.34	4.02	0.46733	.	0.421904	0.24996	N	0.033941	T	0.04770	0.0129	L	0.37561	1.115	0.09310	N	1	B;B	0.18310	0.001;0.027	B;B	0.16289	0.002;0.015	T	0.20240	-1.0281	10	0.36615	T	0.2	-20.3598	7.2992	0.26411	0.0:0.1391:0.0:0.8609	.	540;540	Q5TB80;C9JFM9	QN1_HUMAN;.	E	464;540	ENSP00000257766:K464E;ENSP00000385215:K540E	ENSP00000257766:K464E	K	-	1	0	KIAA1009	84951669	0.706000	0.27856	0.457000	0.27056	0.007000	0.05969	1.244000	0.32778	2.150000	0.67090	0.519000	0.50382	AAA		0.348	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			C	84894950	T	C	84894950	3	2	397	1	0	0	0	0	1	0	0	0	8205	1821	63	3	2653	3	KIAA1009	6	84894950	Missense_Mutation	SNP	T	TCGA-BP-4986-01A-01D-1462-08	51951699	84894950	86220117	21	21980											
PNPLA8	50640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	108155092	108155092	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr7:108155092A>C	ENST00000422087.1	-	4	1250	c.844T>G	c.(844-846)Tca>Gca	p.S282A	PNPLA8_ENST00000388728.5_Missense_Mutation_p.S282A|PNPLA8_ENST00000426128.2_Missense_Mutation_p.S282A|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.S182A|PNPLA8_ENST00000436062.1_Missense_Mutation_p.S282A|PNPLA8_ENST00000257694.8_Missense_Mutation_p.S282A	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	282					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.S282A(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TGTTTAGTTGAAACTTGAAGA	0.433																																																1	Substitution - Missense(1)	kidney(1)											115	111	112					7																	108155092		2203	4300	6503	SO:0001583	missense	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.844T>G	7.37:g.108155092A>C	ENSP00000410804:p.Ser282Ala		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.336704	0.24253	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D;D	0.98531	-3.85;-4.98;-3.84;-4.98;-4.9;-4.98;-4.9	5.48	5.48	0.80851	.	0.107617	0.64402	D	0.000004	D	0.96867	0.8977	M	0.68952	2.095	0.49687	D	0.999818	P	0.34662	0.462	B	0.31946	0.138	D	0.96614	0.9454	10	0.36615	T	0.2	.	15.8623	0.79035	1.0:0.0:0.0:0.0	.	282	Q9NP80	PLPL8_HUMAN	A	282;282;282;282;182;282;182	ENSP00000394988:S282A;ENSP00000257694:S282A;ENSP00000373380:S282A;ENSP00000410804:S282A;ENSP00000387789:S182A;ENSP00000406779:S282A;ENSP00000402274:S182A	ENSP00000257694:S282A	S	-	1	0	PNPLA8	107942328	1.000000	0.71417	0.253000	0.24343	0.079000	0.17450	5.927000	0.70080	2.205000	0.71048	0.482000	0.46254	TCA		0.433	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		C	108155092	A	C	108155092	3	2	397	1	0	0	0	0	1	0	0	0	12173	246	9	5	1540	5	PNPLA8	7	108155092	Missense_Mutation	SNP	A	TCGA-BP-4986-01A-01D-1462-08		108155092	50983571	22	21981											
PLEC	5339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145007369	145007369	+	Missense_Mutation	SNP	G	G	A	rs559590378		TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr8:145007369G>A	ENST00000322810.4	-	13	1994	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	PLEC_ENST00000354958.2_Missense_Mutation_p.R450C|PLEC_ENST00000436759.2_Missense_Mutation_p.R499C|PLEC_ENST00000356346.3_Missense_Mutation_p.R458C|PLEC_ENST00000398774.2_Missense_Mutation_p.R440C|PLEC_ENST00000357649.2_Missense_Mutation_p.R476C|PLEC_ENST00000527096.1_Missense_Mutation_p.R495C|PLEC_ENST00000345136.3_Missense_Mutation_p.R472C|PLEC_ENST00000354589.3_Missense_Mutation_p.R472C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	609	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.R609C(1)|p.R472C(1)|p.R499C(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCCACCTGCGGTACATCTGC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		15123	0.001		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	kidney(3)											39	49	45					8																	145007369		2034	4158	6192	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1825C>T	8.37:g.145007369G>A	ENSP00000323856:p.Arg609Cys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453182	0.43531	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000016	D	0.94755	0.8307	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.996;0.996;0.996;0.991;0.996;0.996;0.996;0.996	D	0.94847	0.8010	10	0.72032	D	0.01	.	12.3656	0.55226	0.0:0.0:0.8311:0.1688	.	499;458;450;609;440;472;476;472	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	472;476;472;440;609;450;458;499;495;516	ENSP00000344848:R472C;ENSP00000350277:R476C;ENSP00000346602:R472C;ENSP00000381756:R440C;ENSP00000323856:R609C;ENSP00000347044:R450C;ENSP00000348702:R458C;ENSP00000388180:R499C;ENSP00000434583:R495C;ENSP00000437303:R516C	ENSP00000323856:R609C	R	-	1	0	PLEC	145079357	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.169000	0.42434	2.378000	0.81104	0.549000	0.68633	CGC		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	145007369	G	A	145007369	3	1	397	1	0	0	0	0	1	0	0	0	12054	1116	39	1	12309	1	PLEC	8	145007369	Missense_Mutation	SNP	G	TCGA-BP-4986-01A-01D-1462-08		145007369	1356653	23	21982											
IL2RA	3559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	6054846	6054846	+	Silent	SNP	T	T	G			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr10:6054846T>G	ENST00000379959.3	-	8	981	c.808A>C	c.(808-810)Aga>Cga	p.R270R	IL2RA_ENST00000256876.6_Silent_p.R261R|IL2RA_ENST00000379954.1_Silent_p.R198R	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	270					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)	p.R270R(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TAGATTGTTCTTCTACTCTTC	0.428																																																1	Substitution - coding silent(1)	kidney(1)											177	159	165					10																	6054846		2203	4300	6503	SO:0001819	synonymous_variant	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.808A>C	10.37:g.6054846T>G			Q5W007	Silent	SNP	ENST00000379959.3	37	CCDS7076.1																																																																																				0.428	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		G	6054846	T	G	6054846	2	3	397	1	0	0	0	0	0	0	0	1	7688	1617	56	5		5	IL2RA	10	6054846	Silent	SNP	T	TCGA-BP-4986-01A-01D-1462-08		6054846	129479901	24	21983											
ITIH5	80760	hgsc.bcm.edu	37	10	7608335	7608336	+	Frame_Shift_Ins	INS	-	-	G	rs543300408		TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr10:7608335_7608336insG	ENST00000256861.6	-	13	2262_2263	c.2184_2185insC	c.(2182-2187)cccgccfs	p.A729fs	ITIH5_ENST00000298441.6_Frame_Shift_Ins_p.A515fs|ITIH5_ENST00000446830.2_Frame_Shift_Ins_p.A511fs|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	729					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTTGGAGGGGCGGGTGCCCCAA	0.51																																																0																																										SO:0001589	frameshift_variant	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2185dupC	10.37:g.7608338_7608338dupG	ENSP00000256861:p.Ala729fs		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Frame_Shift_Ins	INS	ENST00000256861.6	37																																																																																					0.51	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		G	7608336	-	G	7608335	7	5	397	1	0	1	1	0	0	0	0	0	7909	768	27	0	693	0	ITIH5	10	7608335	Frame_Shift_Ins	INS	-	TCGA-BP-4986-01A-01D-1462-08	1553489	7608335	127926412	25	21984											
CHUK	1147	hgsc.bcm.edu;ucsc.edu	37	10	101961883	101961883	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr10:101961883delA	ENST00000370397.7	-	14	1617	c.1531delT	c.(1531-1533)tggfs	p.W511fs		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	511					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATTTCTTTCCATGCTTTTAGC	0.348																																					Ovarian(159;52 1904 10536 35305 37148)											0													197	176	183					10																	101961883		2202	4300	6502	SO:0001589	frameshift_variant	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1531delT	10.37:g.101961883delA	ENSP00000359424:p.Trp511fs		O14666|Q13132|Q5W0I4|Q92467	Frame_Shift_Del	DEL	ENST00000370397.7	37	CCDS7488.1																																																																																				0.348	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		-	101961883	A	-	101961883	7	5	397	1	0	1	0	1	0	0	0	0	3418	217	8	0	738	0	CHUK	10	101961883	Frame_Shift_Del	DEL	A	TCGA-BP-4986-01A-01D-1462-08	94353548	101961883	33572864	26	21985											
B4GALNT4	338707	broad.mit.edu	37	11	379656	379656	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr11:379656C>T	ENST00000329962.6	+	15	2443	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	815					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.R815C(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGGCCACTGCGCCTGGCCTG	0.721																																																1	Substitution - Missense(1)	kidney(1)											5	6	6					11																	379656		1964	4044	6008	SO:0001583	missense	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2443C>T	11.37:g.379656C>T	ENSP00000328277:p.Arg815Cys		Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	18.90	3.721125	0.68959	.	.	ENSG00000182272	ENST00000329962	T	0.35236	1.32	3.61	3.61	0.41365	.	0.731881	0.12265	N	0.484332	T	0.30135	0.0755	L	0.29908	0.895	0.30602	N	0.760399	B	0.34226	0.443	B	0.37780	0.258	T	0.32295	-0.9912	10	0.62326	D	0.03	-6.1776	10.1094	0.42552	0.3363:0.6637:0.0:0.0	.	815	Q76KP1	B4GN4_HUMAN	C	815	ENSP00000328277:R815C	ENSP00000328277:R815C	R	+	1	0	B4GALNT4	369656	0.011000	0.17503	0.994000	0.49952	0.969000	0.65631	0.570000	0.23653	2.022000	0.59522	0.555000	0.69702	CGC		0.721	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		T	379656	C	T	379656	3	4	397	1	0	0	0	0	1	0	0	0	1269	768	27	1	2501	1	B4GALNT4	11	379656	Missense_Mutation	SNP	C	TCGA-BP-4986-01A-01D-1462-08		379656	134626860	27	21986											
FREM2	341640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	39451280	39451280	+	Silent	SNP	T	T	C			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr13:39451280T>C	ENST00000280481.7	+	21	8787	c.8571T>C	c.(8569-8571)ttT>ttC	p.F2857F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2857					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F2857F(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGCTGAGTTTAGCTTGAACA	0.438																																																1	Substitution - coding silent(1)	kidney(1)											268	233	245					13																	39451280		2203	4300	6503	SO:0001819	synonymous_variant	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8571T>C	13.37:g.39451280T>C			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		C	39451280	T	C	39451280	2	2	397	1	0	0	0	0	0	0	0	1	6047	1751	61	3		3	FREM2	13	39451280	Silent	SNP	T	TCGA-BP-4986-01A-01D-1462-08		39451280	75718598	28	21987											
MGA	23269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42035185	42035185	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr15:42035185C>G	ENST00000570161.1	+	14	5027	c.5027C>G	c.(5026-5028)cCt>cGt	p.P1676R	MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.P1676R|MGA_ENST00000389936.4_Missense_Mutation_p.P1676R			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.P1725R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTGCTTTTCCTAAGTCTTTG	0.483																																																1	Substitution - Missense(1)	kidney(1)											167	156	159					15																	42035185		1968	4177	6145	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5027C>G	15.37:g.42035185C>G	ENSP00000457035:p.Pro1676Arg		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174318	0.38413	.	.	ENSG00000174197	ENST00000219905;ENST00000389936	D;D	0.85171	-1.91;-1.95	4.8	4.8	0.61643	.	0.245209	0.28706	N	0.014408	T	0.75213	0.3819	N	0.08118	0	0.80722	D	1	P;P	0.48911	0.917;0.736	P;B	0.46659	0.523;0.221	T	0.79902	-0.1607	10	0.87932	D	0	.	11.5201	0.50546	0.0:0.9179:0.0:0.0821	.	292;1676	B4DVS1;E7ENI0	.;.	R	1676	ENSP00000219905:P1676R;ENSP00000374586:P1676R	ENSP00000219905:P1676R	P	+	2	0	MGA	39822477	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.162000	0.50755	2.485000	0.83878	0.563000	0.77884	CCT		0.483	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		G	42035185	C	G	42035185	3	3	397	1	0	0	0	0	1	0	0	0	9542	681	24	4	5081	4	MGA	15	42035185	Missense_Mutation	SNP	C	TCGA-BP-4986-01A-01D-1462-08		42035185	60496207	29	21988											
MYO1E	4643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59506883	59506883	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr15:59506883A>G	ENST00000288235.4	-	11	1543	c.1144T>C	c.(1144-1146)Tac>Cac	p.Y382H	AC092756.1_ENST00000401164.1_RNA|RNU4-80P_ENST00000363200.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	382	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.Y382H(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCAATGTTGTATTCTTCATGG	0.423																																																1	Substitution - Missense(1)	kidney(1)											204	193	197					15																	59506883		2190	4290	6480	SO:0001583	missense	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1144T>C	15.37:g.59506883A>G	ENSP00000288235:p.Tyr382His		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565651	0.27915	.	.	ENSG00000157483	ENST00000288235	D	0.87256	-2.23	5.14	5.14	0.70334	Myosin head, motor domain (2);	0.164455	0.56097	D	0.000035	D	0.89298	0.6675	L	0.43598	1.365	0.48571	D	0.999671	D	0.55385	0.971	D	0.64687	0.928	D	0.86078	0.1542	10	0.16896	T	0.51	.	15.4162	0.74970	1.0:0.0:0.0:0.0	.	382	Q12965	MYO1E_HUMAN	H	382	ENSP00000288235:Y382H	ENSP00000288235:Y382H	Y	-	1	0	MYO1E	57294175	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.028000	0.76470	2.285000	0.76669	0.533000	0.62120	TAC		0.423	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		G	59506883	A	G	59506883	3	3	397	1	0	0	0	0	1	0	0	0	10074	449	16	3	2254	3	MYO1E	15	59506883	Missense_Mutation	SNP	A	TCGA-BP-4986-01A-01D-1462-08	17471698	59506883	43024509	30	21989											
NGRN	51335	hgsc.bcm.edu;ucsc.edu	37	15	90815002	90815005	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	CTTC	CTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr15:90815002_90815005delCTTC	ENST00000379095.3	+	3	866_869	c.858_861delCTTC	c.(856-861)aacttcfs	p.NF286fs	RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	286					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GCAACGGGAACTTCCTGTACAGAA	0.49																																																0																																										SO:0001589	frameshift_variant	51335			AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.858_861delCTTC	15.37:g.90815002_90815005delCTTC	ENSP00000368389:p.Asn286fs		B2R6M8|Q4V9L7|Q9HBL4	Frame_Shift_Del	DEL	ENST00000379095.3	37	CCDS32329.1																																																																																				0.49	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1			-	90815005	CTTC	-	90815002	7	5	397	1	0	1	0	1	0	0	0	0	10401	564	20	0	868	0	NGRN	15	90815002	Frame_Shift_Del	DEL	CTTC	TCGA-BP-4986-01A-01D-1462-08	31308119	90815002	11716390	31	21990			1	36		2	2	13	N	CTTC_A	1.666828e-05
NGRN	51335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90815014	90815014	+	Silent	SNP	A	A	G			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr15:90815014A>G	ENST00000379095.3	+	3	878	c.870A>G	c.(868-870)agA>agG	p.R290R	RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	290					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R218R(1)|p.R290R(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TCCTGTACAGAATTTGAGTCG	0.493																																																2	Substitution - coding silent(2)	kidney(2)											46	46	46					15																	90815014		2199	4298	6497	SO:0001819	synonymous_variant	51335			AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.870A>G	15.37:g.90815014A>G			B2R6M8|Q4V9L7|Q9HBL4	Silent	SNP	ENST00000379095.3	37	CCDS32329.1																																																																																				0.493	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1			G	90815014	A	G	90815014	2	3	397	1	0	0	0	0	0	0	0	1	10401	243	9	3		3	NGRN	15	90815014	Silent	SNP	A	TCGA-BP-4986-01A-01D-1462-08	12	90815014	11716378	32	21991			1	36		2	2	13	N	CTTC_A	1.666828e-05
SPNS3	201305	broad.mit.edu	37	17	4381896	4381896	+	Silent	SNP	G	G	C			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr17:4381896G>C	ENST00000355530.2	+	9	1423	c.1143G>C	c.(1141-1143)ctG>ctC	p.L381L	SPNS3_ENST00000333476.2_Silent_p.L254L	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	381					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.L381L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGCTGCTTCTGTCCTGCAACT	0.637																																																1	Substitution - coding silent(1)	kidney(1)											65	49	54					17																	4381896		2201	4300	6501	SO:0001819	synonymous_variant	201305				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1143G>C	17.37:g.4381896G>C			Q8IZ31	Silent	SNP	ENST00000355530.2	37	CCDS11045.1																																																																																				0.637	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		C	4381896	G	C	4381896	2	2	397	1	0	0	0	0	0	0	0	1	15081	1364	48	4		4	SPNS3	17	4381896	Silent	SNP	G	TCGA-BP-4986-01A-01D-1462-08		4381896	76813314	33	21992											
KCNJ12	3768	broad.mit.edu	37	17	21319528	21319528	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr17:21319528G>A	ENST00000583088.1	+	3	1769	c.874G>A	c.(874-876)Gac>Aac	p.D292N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D292N	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	292					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.D292N(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGAGACGGACGACTTTGAGAT	0.612										Prostate(3;0.18)																																						1	Substitution - Missense(1)	kidney(1)											96	88	91					17																	21319528		2203	4300	6503	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.874G>A	17.37:g.21319528G>A	ENSP00000463778:p.Asp292Asn		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454209	0.63290	.	.	ENSG00000184185	ENST00000331718	D	0.94793	-3.52	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.047559	0.85682	D	0.000000	D	0.92535	0.7629	L	0.48877	1.53	0.80722	D	1	B	0.19583	0.037	B	0.15052	0.012	D	0.88881	0.3339	10	0.49607	T	0.09	.	19.2719	0.94013	0.0:0.0:1.0:0.0	.	292	Q14500	IRK12_HUMAN	N	292	ENSP00000328150:D292N	ENSP00000328150:D292N	D	+	1	0	KCNJ12	21260121	1.000000	0.71417	0.962000	0.40283	0.867000	0.49689	9.698000	0.98700	2.561000	0.86390	0.561000	0.74099	GAC		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		A	21319528	G	A	21319528	3	1	397	1	0	0	0	0	1	0	0	0	8048	1058	37	1	876	1	KCNJ12	17	21319528	Missense_Mutation	SNP	G	TCGA-BP-4986-01A-01D-1462-08	16937632	21319528	59875682	34	21993											
TBC1D16	125058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	77926601	77926601	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr17:77926601C>G	ENST00000310924.2	-	4	911	c.796G>C	c.(796-798)Gac>Cac	p.D266H	TBC1D16_ENST00000340848.7_5'Flank|TBC1D16_ENST00000576768.1_5'Flank|TBC1D16_ENST00000570373.1_5'Flank|TBC1D16_ENST00000572862.1_5'Flank	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	266							Rab GTPase activator activity (GO:0005097)	p.D266H(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGGCCGGCGTCGGAGCTGGAC	0.672																																					Ovarian(14;397 562 4850 31922 49378)											1	Substitution - Missense(1)	kidney(1)											25	29	28					17																	77926601		2198	4283	6481	SO:0001583	missense	125058			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.796G>C	17.37:g.77926601C>G	ENSP00000309794:p.Asp266His		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660024	0.47572	.	.	ENSG00000167291	ENST00000310924	T	0.11604	2.76	5.3	3.28	0.37604	.	1.018550	0.07807	N	0.957539	T	0.21550	0.0519	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	P	0.56700	0.804	T	0.01940	-1.1243	10	0.46703	T	0.11	-38.1723	9.4216	0.38555	0.0:0.7744:0.0:0.2256	.	266	Q8TBP0	TBC16_HUMAN	H	266	ENSP00000309794:D266H	ENSP00000309794:D266H	D	-	1	0	TBC1D16	75541196	1.000000	0.71417	0.042000	0.18584	0.044000	0.14063	4.649000	0.61433	1.227000	0.43598	0.655000	0.94253	GAC		0.672	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		G	77926601	C	G	77926601	3	3	397	1	0	0	0	0	1	0	0	0	15610	884	31	4	1543	4	TBC1D16	17	77926601	Missense_Mutation	SNP	C	TCGA-BP-4986-01A-01D-1462-08	56607073	77926601	3268609	35	21994											
EPS15L1	58513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	16536069	16536069	+	Missense_Mutation	SNP	G	G	A	rs370990400		TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr19:16536069G>A	ENST00000248070.6	-	9	756	c.617C>T	c.(616-618)cCg>cTg	p.P206L	EPS15L1_ENST00000594975.1_Missense_Mutation_p.P206L|EPS15L1_ENST00000597937.1_Missense_Mutation_p.P206L|EPS15L1_ENST00000455140.2_Missense_Mutation_p.P206L|EPS15L1_ENST00000602009.1_Missense_Mutation_p.P52L|EPS15L1_ENST00000535753.2_Missense_Mutation_p.P206L	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	206	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P206L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GATGAGGGACGGGGGCAGGGC	0.652																																																1	Substitution - Missense(1)	kidney(1)						G	LEU/PRO	0,4406		0,0,2203	20	21	21		617	4.9	0.9	19		21	1,8597		0,1,4298	no	missense	EPS15L1	NM_021235.1	98	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	206/865	16536069	1,13003	2203	4299	6502	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.617C>T	19.37:g.16536069G>A	ENSP00000248070:p.Pro206Leu		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858819	0.32884	0.0	1.16E-4	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.33216	1.42;1.42;1.42	4.91	4.91	0.64330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.117673	0.64402	D	0.000014	T	0.38746	0.1052	M	0.73598	2.24	0.80722	D	1	B;B;B;B;B;B	0.32188	0.231;0.359;0.047;0.047;0.123;0.046	B;B;B;B;B;B	0.32465	0.146;0.103;0.016;0.024;0.077;0.03	T	0.42327	-0.9458	10	0.66056	D	0.02	.	17.2637	0.87079	0.0:0.0:1.0:0.0	.	206;206;205;206;206;206	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	L	206	ENSP00000393313:P206L;ENSP00000248070:P206L;ENSP00000440103:P206L	ENSP00000248070:P206L	P	-	2	0	EPS15L1	16397069	0.998000	0.40836	0.906000	0.35671	0.005000	0.04900	6.320000	0.72876	2.557000	0.86248	0.655000	0.94253	CCG		0.652	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		A	16536069	G	A	16536069	3	1	397	1	0	0	0	0	1	0	0	0	5195	1116	39	1	2037	1	EPS15L1	19	16536069	Missense_Mutation	SNP	G	TCGA-BP-4986-01A-01D-1462-08		16536069	42592914	36	21995											
ATP4A	495	broad.mit.edu	37	19	36046428	36046428	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr19:36046428C>G	ENST00000262623.3	-	14	2099	c.2071G>C	c.(2071-2073)Gag>Cag	p.E691Q		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	691					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.E691Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCAGGGCCTCGACCAGTTCC	0.652																																																1	Substitution - Missense(1)	kidney(1)											50	50	50					19																	36046428		2203	4300	6503	SO:0001583	missense	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2071G>C	19.37:g.36046428C>G	ENSP00000262623:p.Glu691Gln		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063056	0.76187	.	.	ENSG00000105675	ENST00000262623	D	0.93712	-3.27	4.87	4.87	0.63330	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.074209	0.51477	D	0.000091	D	0.92672	0.7671	N	0.13327	0.33	0.80722	D	1	D	0.53885	0.963	D	0.66084	0.941	D	0.93553	0.6888	10	0.54805	T	0.06	.	15.5367	0.76007	0.0:1.0:0.0:0.0	.	691	P20648	ATP4A_HUMAN	Q	691	ENSP00000262623:E691Q	ENSP00000262623:E691Q	E	-	1	0	ATP4A	40738268	1.000000	0.71417	0.974000	0.42286	0.702000	0.40608	7.443000	0.80521	2.537000	0.85549	0.462000	0.41574	GAG		0.652	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		G	36046428	C	G	36046428	3	3	397	1	0	0	0	0	1	0	0	0	1145	893	31	4	1072	4	ATP4A	19	36046428	Missense_Mutation	SNP	C	TCGA-BP-4986-01A-01D-1462-08	19510359	36046428	23082555	37	21996											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38985048	38985048	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr19:38985048G>A	ENST00000359596.3	+	39	6331	c.6331G>A	c.(6331-6333)Gtg>Atg	p.V2111M	RYR1_ENST00000355481.4_Missense_Mutation_p.V2111M|RYR1_ENST00000360985.3_Missense_Mutation_p.V2111M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2111	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.V2111M(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGAGGACTTCGTGCAGAGCCC	0.667																																																1	Substitution - Missense(1)	kidney(1)											39	35	37					19																	38985048		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6331G>A	19.37:g.38985048G>A	ENSP00000352608:p.Val2111Met		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933607	0.52866	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97016	-4.21;-4.21;-4.21	4.79	3.7	0.42460	.	0.088383	0.45126	U	0.000384	D	0.92987	0.7768	N	0.25647	0.755	0.35883	D	0.8291	D;D	0.59767	0.986;0.977	P;P	0.51833	0.681;0.483	D	0.92458	0.5975	10	0.59425	D	0.04	.	4.1571	0.10266	0.3105:0.0:0.6895:0.0	.	2111;2111	P21817-2;P21817	.;RYR1_HUMAN	M	2111	ENSP00000352608:V2111M;ENSP00000347667:V2111M;ENSP00000354254:V2111M	ENSP00000347667:V2111M	V	+	1	0	RYR1	43676888	1.000000	0.71417	0.978000	0.43139	0.869000	0.49853	3.809000	0.55606	2.477000	0.83638	0.313000	0.20887	GTG		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38985048	G	A	38985048	3	1	397	1	0	0	0	0	1	0	0	0	13774	1145	40	1	6485	1	RYR1	19	38985048	Missense_Mutation	SNP	G	TCGA-BP-4986-01A-01D-1462-08	2938620	38985048	20143935	38	21997											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu	37	19	39008218	39008218	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr19:39008218C>A	ENST00000359596.3	+	66	9905	c.9905C>A	c.(9904-9906)cCa>cAa	p.P3302Q	RYR1_ENST00000355481.4_Missense_Mutation_p.P3302Q|RYR1_ENST00000360985.3_Missense_Mutation_p.P3302Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3302					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.P3302Q(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCGCCCCCCCACCCTGCACA	0.652																																																1	Substitution - Missense(1)	kidney(1)											33	32	32					19																	39008218		2202	4300	6502	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9905C>A	19.37:g.39008218C>A	ENSP00000352608:p.Pro3302Gln		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	6.544	0.468685	0.12461	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96491	-4.02;-4.03;-4.02	3.54	3.54	0.40534	.	0.395517	0.21765	U	0.069442	D	0.92750	0.7695	L	0.48642	1.525	0.39161	D	0.962412	B;B;B	0.16396	0.002;0.017;0.01	B;B;B	0.12156	0.003;0.007;0.003	D	0.89436	0.3720	10	0.12430	T	0.62	.	12.6296	0.56649	0.0:1.0:0.0:0.0	.	3302;3302;3302	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	Q	3302;3302;3302;222	ENSP00000352608:P3302Q;ENSP00000347667:P3302Q;ENSP00000354254:P3302Q	ENSP00000347667:P3302Q	P	+	2	0	RYR1	43700058	0.007000	0.16637	0.557000	0.28306	0.405000	0.30901	1.104000	0.31074	1.826000	0.53198	0.205000	0.17691	CCA		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	39008218	C	A	39008218	3	1	397	1	0	0	0	0	1	0	0	0	13774	594	21	4	10167	4	RYR1	19	39008218	Missense_Mutation	SNP	C	TCGA-BP-4986-01A-01D-1462-08	23170	39008218	20120765	39	21998											
ZNF234	10780	broad.mit.edu;ucsc.edu	37	19	44660625	44660625	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr19:44660625G>C	ENST00000426739.2	+	6	714	c.456G>C	c.(454-456)gaG>gaC	p.E152D	ZNF234_ENST00000592437.1_Missense_Mutation_p.E152D	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E152D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AATGTGATGAGTACAAAAAAT	0.403																																																1	Substitution - Missense(1)	kidney(1)											62	66	65					19																	44660625		2193	4292	6485	SO:0001583	missense	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.456G>C	19.37:g.44660625G>C	ENSP00000400878:p.Glu152Asp		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	9.120	1.008753	0.19199	.	.	ENSG00000167380	ENST00000426739	T	0.30448	1.53	3.65	-5.72	0.02406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11153	0.0272	N	0.08118	0	0.09310	N	1	B	0.26512	0.151	B	0.25614	0.062	T	0.22941	-1.0202	9	0.46703	T	0.11	.	1.5839	0.02640	0.2075:0.1286:0.405:0.2588	.	152	Q14588	ZN234_HUMAN	D	152	ENSP00000400878:E152D	ENSP00000400878:E152D	E	+	3	2	ZNF226	49352465	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.802000	0.01741	-0.831000	0.04256	-0.302000	0.09304	GAG		0.403	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			C	44660625	G	C	44660625	3	2	397	1	0	0	0	0	1	0	0	0	17792	1020	36	4	470	4	ZNF234	19	44660625	Missense_Mutation	SNP	G	TCGA-BP-4986-01A-01D-1462-08	5652407	44660625	14468358	40	21999											
ZNF473	25888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50549932	50549932	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr19:50549932G>C	ENST00000595661.1	+	6	2727	c.2232G>C	c.(2230-2232)gaG>gaC	p.E744D	ZNF473_ENST00000445728.3_Missense_Mutation_p.E732D|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.E744D|ZNF473_ENST00000391821.2_Missense_Mutation_p.E744D|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	744					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E744D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGAGTGCTGAGCTTGTCCGCC	0.507											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											77	81	79					19																	50549932		2203	4300	6503	SO:0001583	missense	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2232G>C	19.37:g.50549932G>C	ENSP00000472808:p.Glu744Asp	970	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	1.795	-0.478649	0.04414	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.07567	3.18;3.18;3.18	4.23	-7.79	0.01218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.268860	0.05944	N	0.637605	T	0.02888	0.0086	N	0.01464	-0.85	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.48127	-0.9062	10	0.13853	T	0.58	-0.0183	14.9662	0.71196	0.1576:0.1076:0.7347:0.0	.	744	Q8WTR7	ZN473_HUMAN	D	744;744;732	ENSP00000270617:E744D;ENSP00000375697:E744D;ENSP00000388961:E732D	ENSP00000270617:E744D	E	+	3	2	ZNF473	55241744	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-6.149000	0.00078	-2.016000	0.00945	-0.355000	0.07637	GAG		0.507	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		C	50549932	G	C	50549932	3	2	397	1	0	0	0	0	1	0	0	0	17936	962	34	4	2246	4	ZNF473	19	50549932	Missense_Mutation	SNP	G	TCGA-BP-4986-01A-01D-1462-08	5889307	50549932	8579051	41	22000											
POLD1	5424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50905747	50905747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr19:50905747G>A	ENST00000440232.2	+	7	848	c.795G>A	c.(793-795)tgG>tgA	p.W265*	POLD1_ENST00000599857.1_Nonsense_Mutation_p.W265*|POLD1_ENST00000595904.1_Nonsense_Mutation_p.W265*	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	265					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.W265*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCTGCAACTGGCTGGAGCTCC	0.667								DNA polymerases (catalytic subunits)																																								2	Substitution - Nonsense(2)	kidney(2)											20	21	20					19																	50905747		2199	4298	6497	SO:0001587	stop_gained	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.795G>A	19.37:g.50905747G>A	ENSP00000406046:p.Trp265*		Q8NER3|Q96H98	Nonsense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.945684	0.97134	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	.	.	.	4.23	4.23	0.50019	.	0.265227	0.33753	N	0.004581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.9945	15.919	0.79544	0.0:0.0:1.0:0.0	.	.	.	.	X	265;266	.	ENSP00000366129:W266X	W	+	3	0	POLD1	55597559	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.488000	0.66869	2.365000	0.80145	0.491000	0.48974	TGG		0.667	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			A	50905747	G	A	50905747	4	1	397	1	0	0	0	0	0	1	0	0	12192	1212	42	2	817	2	POLD1	19	50905747	Nonsense_Mutation	SNP	G	TCGA-BP-4986-01A-01D-1462-08	355815	50905747	8223236	42	22001											
NF2	4771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30032866	30032867	+	Splice_Site	DEL	GT	GT	-			TCGA-BP-4986-01A-01D-1462-08	TCGA-BP-4986-11A-01D-1462-08	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4465171a-d048-4078-b1ae-021b2c635ff4	2ed78cfb-2ff0-4682-9c25-21174a4e4853	g.chr22:30032866_30032867delGT	ENST00000338641.4	+	2	681		c.e2+1		NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Intron|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000353887.4_Intron|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000334961.7_Intron|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000413209.2_Splice_Site|NF2_ENST00000361452.4_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(6)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGACAAGAAGGTTGGGCTAGAA	0.535			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	6	Unknown(6)	meninges(2)|stomach(1)|large_intestine(1)|lung(1)|soft_tissue(1)	GRCh37	CS930848|CS941518	NF2	S																																				SO:0001630	splice_region_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.240+1GT>-	22.37:g.30032866_30032867delGT			O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	37	CCDS13861.1																																																																																				0.535	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	-	30032867	GT	-	30032866	8	5	397	1	0	1	0	1	0	0	1	0	10359	1275	44	0	247	0	NF2	22	30032866	Splice_Site	DEL	GT	TCGA-BP-4986-01A-01D-1462-08		30032866	21271700	43	22002											
JAK1	3716	hgsc.bcm.edu;ucsc.edu	37	1	65310524	65310524	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr1:65310524delG	ENST00000342505.4	-	16	2412	c.2164delC	c.(2164-2166)ctgfs	p.L722fs	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	722	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCACGGGCCAGGAGGAGGTTT	0.527			Mis		ALL																																		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													96	109	105					1																	65310524		2064	4199	6263	SO:0001589	frameshift_variant	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2164delC	1.37:g.65310524delG	ENSP00000343204:p.Leu722fs		Q59GQ2|Q9UD26	Frame_Shift_Del	DEL	ENST00000342505.4	37	CCDS41346.1																																																																																				0.527	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		-	65310524	G	-	65310524	7	5	398	1	0	1	0	1	0	0	0	0	7939	991	35	0	1340	0	JAK1	1	65310524	Frame_Shift_Del	DEL	G	TCGA-BP-4987-01A-01D-1462-08		65310524	183940097	1	22003											
GBP6	163351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	89847441	89847441	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr1:89847441G>A	ENST00000370456.4	+	7	1153	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	GBP6_ENST00000535065.1_Missense_Mutation_p.D224N	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	354					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D354N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GGAGCTGCTGGACATGCATGC	0.547																																																1	Substitution - Missense(1)	kidney(1)											81	73	76					1																	89847441		2203	4300	6503	SO:0001583	missense	163351			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1060G>A	1.37:g.89847441G>A	ENSP00000359485:p.Asp354Asn		A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057609	0.19907	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.56776	0.44;0.44	4.75	2.43	0.29744	Guanylate-binding protein, C-terminal (3);	0.638563	0.15479	N	0.260217	T	0.17152	0.0412	L	0.31526	0.94	0.28781	N	0.899852	B	0.15473	0.013	B	0.20384	0.029	T	0.09618	-1.0666	10	0.42905	T	0.14	-2.3061	3.5711	0.07917	0.1056:0.1668:0.5568:0.1708	.	354	Q6ZN66	GBP6_HUMAN	N	325;354;224	ENSP00000359485:D354N;ENSP00000442530:D224N	ENSP00000359485:D354N	D	+	1	0	GBP6	89620029	0.935000	0.31712	0.818000	0.32626	0.145000	0.21501	1.156000	0.31712	0.964000	0.38108	-0.291000	0.09656	GAC		0.547	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		A	89847441	G	A	89847441	3	1	398	1	0	0	0	0	1	0	0	0	6280	1174	41	2	1082	2	GBP6	1	89847441	Missense_Mutation	SNP	G	TCGA-BP-4987-01A-01D-1462-08	24536917	89847441	159403180	2	22004											
CLK2	1196	hgsc.bcm.edu;ucsc.edu	37	1	155240724	155240729	+	In_Frame_Del	DEL	CCGGCT	CCGGCT	-			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	CCGGCT	CCGGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr1:155240724_155240729delCCGGCT	ENST00000368361.4	-	2	355_360	c.40_45delAGCCGG	c.(40-45)agccggdel	p.SR14del	CLK2_ENST00000361168.5_In_Frame_Del_p.SR14del|CLK2_ENST00000536801.1_In_Frame_Del_p.SR14del|CLK2_ENST00000355560.4_In_Frame_Del_p.SR14del|CLK2_ENST00000497188.1_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2	14					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R15L(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTAACTCCCCCGGCTGCCTCGCTCT	0.558								Other conserved DNA damage response genes																																								1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.40_45delAGCCGG	1.37:g.155240724_155240729delCCGGCT	ENSP00000357345:p.Ser14_Arg15del		B1AVS9|B5MBX6|Q96CQ0	In_Frame_Del	DEL	ENST00000368361.4	37																																																																																					0.558	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		-	155240729	CCGGCT	-	155240724	7	5	398	1	0	1	0	1	0	0	0	0	3539	610	22	0	1499	0	CLK2	1	155240724	In_Frame_Del	DEL	CCGGCT	TCGA-BP-4987-01A-01D-1462-08	65393283	155240724	94009897	3	22005											
SPAST	6683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32323916	32323916	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr2:32323916A>G	ENST00000315285.3	+	4	763	c.638A>G	c.(637-639)aAt>aGt	p.N213S	SPAST_ENST00000345662.1_Intron	NM_014946.3	NP_055761.2			spastin									p.N213S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GACGTCTATAATGACAGTACT	0.363																																																1	Substitution - Missense(1)	kidney(1)											85	80	82					2																	32323916		2203	4300	6503	SO:0001583	missense	6683			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"ATPases / AAA-type"	11233	protein-coding gene	gene with protein product		604277	"spastic paraplegia 4 (autosomal dominant; spastin)"	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.638A>G	2.37:g.32323916A>G	ENSP00000320885:p.Asn213Ser			Missense_Mutation	SNP	ENST00000315285.3	37	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	A	7.988	0.752659	0.15778	.	.	ENSG00000021574	ENST00000315285	D	0.92752	-3.1	5.56	5.56	0.83823	.	0.916639	0.09575	N	0.783662	T	0.81245	0.4782	N	0.08118	0	0.37191	D	0.903957	B	0.02656	0.0	B	0.04013	0.001	T	0.72301	-0.4334	10	0.07813	T	0.8	-38.2973	7.992	0.30246	0.8454:0.0:0.1546:0.0	.	213	Q9UBP0	SPAST_HUMAN	S	213	ENSP00000320885:N213S	ENSP00000320885:N213S	N	+	2	0	SPAST	32177420	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.894000	0.56250	2.113000	0.64589	0.477000	0.44152	AAT		0.363	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		G	32323916	A	G	32323916	3	3	398	1	0	0	0	0	1	0	0	0	15002	101	4	3	652	3	SPAST	2	32323916	Missense_Mutation	SNP	A	TCGA-BP-4987-01A-01D-1462-08		32323916	210875457	4	22006											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52712580	52712580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr3:52712580G>A	ENST00000296302.7	-	2	173	c.172C>T	c.(172-174)Cga>Tga	p.R58*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R58*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R58*			Q86U86	PB1_HUMAN	polybromo 1	58					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R58*(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTATAGTCTCGGATGGTATTA	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	7	Substitution - Nonsense(7)	kidney(6)|large_intestine(1)											130	118	122					3																	52712580		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.172C>T	3.37:g.52712580G>A	ENSP00000296302:p.Arg58*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.705422	0.96812	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	.	.	.	5.2	3.17	0.36434	.	0.056365	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.9834	8.9802	0.35961	0.0:0.1109:0.6405:0.2486	.	.	.	.	X	58;58;58;58;58;58;58;58;58;2;58;58;58;58	.	ENSP00000296302:R58X	R	-	1	2	PBRM1	52687620	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.452000	0.52971	1.160000	0.42584	0.460000	0.39030	CGA		0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52712580	G	A	52712580	4	1	398	1	0	0	0	0	0	1	0	0	11493	1124	39	1	4844	1	PBRM1	3	52712580	Nonsense_Mutation	SNP	G	TCGA-BP-4987-01A-01D-1462-08		52712580	145309850	5	22007											
GOLGB1	2804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121415221	121415221	+	Silent	SNP	T	T	C	rs202178297		TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr3:121415221T>C	ENST00000340645.5	-	13	4259	c.4134A>G	c.(4132-4134)caA>caG	p.Q1378Q	GOLGB1_ENST00000393667.3_Silent_p.Q1383Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1378					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q1378Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CAATTTGTAGTTGGCTGCTTT	0.403													T|||	1	0.000199681	0.0	0.0	5008	,	,		20445	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											158	164	162					3																	121415221		2203	4299	6502	SO:0001819	synonymous_variant	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4134A>G	3.37:g.121415221T>C			B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	CCDS3004.1																																																																																				0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		C	121415221	T	C	121415221	2	2	398	1	0	0	0	0	0	0	0	1	6567	1722	60	3		3	GOLGB1	3	121415221	Silent	SNP	T	TCGA-BP-4987-01A-01D-1462-08	68702641	121415221	76607209	6	22008											
PPARGC1A	10891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	23833232	23833232	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr4:23833232G>T	ENST00000264867.2	-	3	496	c.377C>A	c.(376-378)tCc>tAc	p.S126Y	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	126					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.S126Y(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGGCATGGAGGAAGGACTAGC	0.542																																					Esophageal Squamous(29;694 744 13796 34866 44181)											1	Substitution - Missense(1)	kidney(1)											339	268	292					4																	23833232		2203	4300	6503	SO:0001583	missense	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.377C>A	4.37:g.23833232G>T	ENSP00000264867:p.Ser126Tyr		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986703	0.93106	.	.	ENSG00000109819	ENST00000264867	T	0.24908	1.83	6.03	6.03	0.97812	.	0.048703	0.85682	D	0.000000	T	0.51075	0.1653	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.40232	-0.9574	10	0.62326	D	0.03	-6.9495	20.5568	0.99304	0.0:0.0:1.0:0.0	.	126	Q9UBK2	PRGC1_HUMAN	Y	126	ENSP00000264867:S126Y	ENSP00000264867:S126Y	S	-	2	0	PPARGC1A	23442330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	2.861000	0.98227	0.655000	0.94253	TCC		0.542	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		T	23833232	G	T	23833232	3	4	398	1	0	0	0	0	1	0	0	0	12302	1174	41	4	2063	4	PPARGC1A	4	23833232	Missense_Mutation	SNP	G	TCGA-BP-4987-01A-01D-1462-08		23833232	167321044	7	22009											
GRID2	2895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	94376877	94376877	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr4:94376877C>T	ENST00000282020.4	+	11	1868	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	GRID2_ENST00000510992.1_Missense_Mutation_p.T442M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	537					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.T537M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GTGGACTTTACGACACGTTAC	0.433																																																2	Substitution - Missense(2)	prostate(1)|kidney(1)											145	132	136					4																	94376877		2203	4300	6503	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1610C>T	4.37:g.94376877C>T	ENSP00000282020:p.Thr537Met		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944581	0.92593	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.16457	2.34;2.34	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64334	-0.6432	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	442;537	E9PH24;O43424	.;GRID2_HUMAN	M	537;442	ENSP00000282020:T537M;ENSP00000421257:T442M	ENSP00000282020:T537M	T	+	2	0	GRID2	94595900	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.947000	0.63583	2.836000	0.97738	0.655000	0.94253	ACG		0.433	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			T	94376877	C	T	94376877	3	4	398	1	0	0	0	0	1	0	0	0	6774	536	19	1	1652	1	GRID2	4	94376877	Missense_Mutation	SNP	C	TCGA-BP-4987-01A-01D-1462-08	70543645	94376877	96777399	8	22010											
PPP2R2B	5521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	146077636	146077636	+	Silent	SNP	G	G	A			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr5:146077636G>A	ENST00000394413.3	-	3	810	c.240C>T	c.(238-240)ttC>ttT	p.F80F	PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Silent_p.F80F|PPP2R2B_ENST00000394411.4_Silent_p.F80F|PPP2R2B_ENST00000356826.3_Silent_p.F80F|PPP2R2B_ENST00000394409.3_Silent_p.F138F|PPP2R2B_ENST00000508545.2_Silent_p.F69F|PPP2R2B_ENST00000504198.1_Silent_p.F86F|PPP2R2B_ENST00000394414.1_Silent_p.F146F|PPP2R2B_ENST00000336640.6_Silent_p.F83F|PPP2R2B_ENST00000394410.2_Silent_p.F69F			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	80					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.F69F(1)|p.F80F(1)|p.F83F(1)|p.F138F(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGGTAATCGAACTCGGGTT	0.383																																																4	Substitution - coding silent(4)	kidney(4)											128	135	132					5																	146077636		2203	4300	6503	SO:0001819	synonymous_variant	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.240C>T	5.37:g.146077636G>A			A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	CCDS4284.1																																																																																				0.383	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		A	146077636	G	A	146077636	2	1	398	1	0	0	0	0	0	0	0	1	12390	1049	37	1		1	PPP2R2B	5	146077636	Silent	SNP	G	TCGA-BP-4987-01A-01D-1462-08		146077636	34837624	9	22011											
PKD1L1	168507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	47897277	47897277	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr7:47897277G>C	ENST00000289672.2	-	28	4566	c.4516C>G	c.(4516-4518)Cag>Gag	p.Q1506E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1506	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.Q1506E(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATGGGCTCTGTGTCTCCGCC	0.547																																																1	Substitution - Missense(1)	kidney(1)											81	80	81					7																	47897277		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4516C>G	7.37:g.47897277G>C	ENSP00000289672:p.Gln1506Glu		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455045	0.26161	.	.	ENSG00000158683	ENST00000289672	T	0.18174	2.23	5.1	3.22	0.36961	Egg jelly receptor, REJ-like (1);	0.783877	0.11412	N	0.566676	T	0.16854	0.0405	L	0.60455	1.87	0.09310	N	1	D	0.54207	0.965	B	0.43950	0.437	T	0.16988	-1.0384	10	0.32370	T	0.25	-12.4309	3.1998	0.06646	0.0955:0.1769:0.5447:0.1828	.	1506	Q8TDX9	PK1L1_HUMAN	E	1506	ENSP00000289672:Q1506E	ENSP00000289672:Q1506E	Q	-	1	0	PKD1L1	47863802	0.001000	0.12720	0.005000	0.12908	0.041000	0.13682	0.699000	0.25586	1.084000	0.41184	0.563000	0.77884	CAG		0.547	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		C	47897277	G	C	47897277	3	2	398	1	0	0	0	0	1	0	0	0	11966	1386	48	4	4153	4	PKD1L1	7	47897277	Missense_Mutation	SNP	G	TCGA-BP-4987-01A-01D-1462-08		47897277	111241386	10	22012											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113243821	113243821	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr8:113243821C>A	ENST00000297405.5	-	69	11025	c.10781G>T	c.(10780-10782)gGa>gTa	p.G3594V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3554V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3425V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3524V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3594						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3594V(2)|p.G3554V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAATAAATCCTTGAAATAC	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						3	Substitution - Missense(3)	kidney(2)|lung(1)											124	133	130					8																	113243821		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10781G>T	8.37:g.113243821C>A	ENSP00000297405:p.Gly3594Val		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823913	0.90873	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.34667	1.7;1.69;1.77;1.35;1.74	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	T	0.61627	0.2362	M	0.73217	2.22	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.911	D;D;P	0.80764	0.994;0.987;0.646	T	0.63825	-0.6549	10	0.87932	D	0	.	19.1714	0.93580	0.0:1.0:0.0:0.0	.	3425;3594;3554	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3554;3594;2864;3425;3524	ENSP00000345799:G3554V;ENSP00000297405:G3594V;ENSP00000341558:G2864V;ENSP00000412263:G3425V;ENSP00000343124:G3524V	ENSP00000297405:G3594V	G	-	2	0	CSMD3	113312997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.494000	0.81503	2.843000	0.97960	0.585000	0.79938	GGA		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113243821	C	A	113243821	3	1	398	1	0	0	0	0	1	0	0	0	3948	855	30	4	354	4	CSMD3	8	113243821	Missense_Mutation	SNP	C	TCGA-BP-4987-01A-01D-1462-08		113243821	33120201	11	22013											
IFNA8	3445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	21409486	21409486	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr9:21409486T>A	ENST00000380205.1	+	1	341	c.311T>A	c.(310-312)cTt>cAt	p.L104H		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	104					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.L104H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		GATGAGACCCTTCTAGATGAA	0.502																																																1	Substitution - Missense(1)	kidney(1)											102	97	98					9																	21409486		2203	4300	6503	SO:0001583	missense	3445				CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"Interferons"	5429	protein-coding gene	gene with protein product	"interferon alpha-B''", "interferon alpha type 201"	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.311T>A	9.37:g.21409486T>A	ENSP00000369553:p.Leu104His		P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245875	0.39697	.	.	ENSG00000120242	ENST00000380205	T	0.05139	3.49	3.48	2.21	0.28008	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.757438	0.11887	N	0.519989	T	0.19485	0.0468	M	0.77712	2.385	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14643	-1.0465	10	0.87932	D	0	.	2.544	0.04732	0.2325:0.1293:0.0:0.6382	.	104	P32881	IFNA8_HUMAN	H	104	ENSP00000369553:L104H	ENSP00000369553:L104H	L	+	2	0	IFNA8	21399486	0.000000	0.05858	0.030000	0.17652	0.009000	0.06853	-0.130000	0.10498	1.593000	0.50029	0.402000	0.26972	CTT		0.502	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		A	21409486	T	A	21409486	3	1	398	1	0	0	0	0	1	0	0	0	7545	1609	56	5	313	5	IFNA8	9	21409486	Missense_Mutation	SNP	T	TCGA-BP-4987-01A-01D-1462-08		21409486	119803945	12	22014											
INPPL1	3636	hgsc.bcm.edu;ucsc.edu	37	11	71939276	71939278	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr11:71939276_71939278delAGA	ENST00000298229.2	+	2	429_431	c.225_227delAGA	c.(223-228)ggagaa>gga	p.E76del	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	76	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCCTGATGGAGAAGATTTCTTG	0.586																																																0																																										SO:0001651	inframe_deletion	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.225_227delAGA	11.37:g.71939279_71939281delAGA	ENSP00000298229:p.Glu76del		B2RTX5|Q13577|Q13578	In_Frame_Del	DEL	ENST00000298229.2	37	CCDS8213.1																																																																																				0.586	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		-	71939278	AGA	-	71939276	7	5	398	1	0	1	0	1	0	0	0	0	7763	291	11	0	231	0	INPPL1	11	71939276	In_Frame_Del	DEL	AGA	TCGA-BP-4987-01A-01D-1462-08		71939276	63067240	13	22015											
RIC8B	55188	hgsc.bcm.edu;ucsc.edu	37	12	107254049	107254053	+	Frame_Shift_Del	DEL	ATAGT	ATAGT	-			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	ATAGT	ATAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr12:107254049_107254053delATAGT	ENST00000392839.2	+	8	1416_1420	c.1310_1314delATAGT	c.(1309-1314)gatagtfs	p.DS437fs	RIC8B_ENST00000392837.4_Frame_Shift_Del_p.DS437fs|RIC8B_ENST00000549643.1_5'UTR|RIC8B_ENST00000355478.2_Frame_Shift_Del_p.DS397fs	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	437					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TTTGCAGTGGATAGTCTGCTGAAAT	0.473																																																0																																										SO:0001589	frameshift_variant	55188			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1310_1314delATAGT	12.37:g.107254049_107254053delATAGT	ENSP00000376583:p.Asp437fs		A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Frame_Shift_Del	DEL	ENST00000392839.2	37	CCDS9109.2																																																																																				0.473	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		-	107254053	ATAGT	-	107254049	7	5	398	1	0	1	0	1	0	0	0	0	13362	333	12	0	1340	0	RIC8B	12	107254049	Frame_Shift_Del	DEL	ATAGT	TCGA-BP-4987-01A-01D-1462-08		107254049	26597846	14	22016											
NOC4L	79050	broad.mit.edu	37	12	132633361	132633361	+	Silent	SNP	G	G	T			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr12:132633361G>T	ENST00000330579.1	+	9	863	c.822G>T	c.(820-822)ctG>ctT	p.L274L	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	274					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L274L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		AGGTGCTGCTGATTGTGCATG	0.726																																																1	Substitution - coding silent(1)	kidney(1)											26	22	23					12																	132633361		2189	4292	6481	SO:0001819	synonymous_variant	79050				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.822G>T	12.37:g.132633361G>T			Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	37	CCDS9277.1																																																																																				0.726	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		T	132633361	G	T	132633361	2	4	398	1	0	0	0	0	0	0	0	1	10517	1277	45	4		4	NOC4L	12	132633361	Silent	SNP	G	TCGA-BP-4987-01A-01D-1462-08	25379312	132633361	1218534	15	22017											
ATP7B	540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	52539025	52539025	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr13:52539025T>C	ENST00000242839.4	-	5	2008	c.1852A>G	c.(1852-1854)Att>Gtt	p.I618V	ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.I618V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.I618V|ATP7B_ENST00000400366.3_Missense_Mutation_p.I507V|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.I618V|ATP7B_ENST00000417240.2_5'Flank	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	618	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.I618V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATTTTGATAATATCCCGTGGA	0.358									Wilson disease																																							1	Substitution - Missense(1)	kidney(1)											75	74	74					13																	52539025		1865	4096	5961	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1852A>G	13.37:g.52539025T>C	ENSP00000242839:p.Ile618Val		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736564	0.49045	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	5.95	4.77	0.60923	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.132624	0.64402	N	0.000003	D	0.93187	0.7830	M	0.70275	2.135	0.80722	D	1	P;P;B;P;D;B	0.63046	0.76;0.947;0.361;0.785;0.992;0.217	P;P;B;P;D;B	0.78314	0.621;0.755;0.219;0.723;0.991;0.326	D	0.92850	0.6296	10	0.56958	D	0.05	-15.8759	12.0589	0.53550	0.0:0.067:0.0:0.933	.	618;618;618;507;618;618	E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;ATP7B_HUMAN	V	618;507;618;618;618	ENSP00000242839:I618V;ENSP00000383217:I507V;ENSP00000342559:I618V;ENSP00000416738:I618V;ENSP00000393343:I618V	ENSP00000242839:I618V	I	-	1	0	ATP7B	51437026	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.508000	0.45450	1.075000	0.40932	0.533000	0.62120	ATT		0.358	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		C	52539025	T	C	52539025	3	2	398	1	0	0	0	0	1	0	0	0	1191	1406	49	3	2613	3	ATP7B	13	52539025	Missense_Mutation	SNP	T	TCGA-BP-4987-01A-01D-1462-08		52539025	62630853	16	22018											
RPGRIP1	57096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21771589	21771589	+	Silent	SNP	C	C	T			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr14:21771589C>T	ENST00000400017.2	+	5	687	c.687C>T	c.(685-687)agC>agT	p.S229S	RPGRIP1_ENST00000206660.6_Silent_p.S229S|RPGRIP1_ENST00000556336.1_Silent_p.S202S|RPGRIP1_ENST00000557771.1_Silent_p.S202S	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	229					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.S229S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCATGGCCAGCAATACCATGC	0.443																																																1	Substitution - coding silent(1)	kidney(1)											69	67	67					14																	21771589		1928	4152	6080	SO:0001819	synonymous_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.687C>T	14.37:g.21771589C>T			Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	CCDS45080.1																																																																																				0.443	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		T	21771589	C	T	21771589	2	4	398	1	0	0	0	0	0	0	0	1	13555	709	25	2		2	RPGRIP1	14	21771589	Silent	SNP	C	TCGA-BP-4987-01A-01D-1462-08		21771589	85577951	17	22019											
SYNE2	23224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64447732	64447732	+	Silent	SNP	G	G	A			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr14:64447732G>A	ENST00000344113.4	+	16	1889	c.1677G>A	c.(1675-1677)caG>caA	p.Q559Q	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.Q559Q|SYNE2_ENST00000554584.1_Silent_p.Q559Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	559					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Q559Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTAATAAACAGTATATGATGG	0.264																																																1	Substitution - coding silent(1)	kidney(1)											81	85	84					14																	64447732		1788	4059	5847	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1677G>A	14.37:g.64447732G>A			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.264	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		A	64447732	G	A	64447732	2	1	398	1	0	0	0	0	0	0	0	1	15451	1020	36	2		2	SYNE2	14	64447732	Silent	SNP	G	TCGA-BP-4987-01A-01D-1462-08	42676143	64447732	42901808	18	22020											
ITGB3	3690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	45377874	45377874	+	Silent	SNP	G	G	C			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr17:45377874G>C	ENST00000559488.1	+	12	1960	c.1944G>C	c.(1942-1944)cgG>cgC	p.R648R	RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000435993.2_Silent_p.R601R|RP11-290H9.4_ENST00000576345.1_RNA|ITGB3_ENST00000560629.1_Missense_Mutation_p.G637R	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	648					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R601R(1)|p.R648R(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	AGTTTGACCGGGGAGCCCTAC	0.483																																																2	Substitution - coding silent(2)	kidney(2)											142	117	126					17																	45377874		2203	4300	6503	SO:0001819	synonymous_variant	3690				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1944G>C	17.37:g.45377874G>C			A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Silent	SNP	ENST00000559488.1	37	CCDS11511.1																																																																																				0.483	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		C	45377874	G	C	45377874	2	2	398	1	0	0	0	0	0	0	0	1	7897	1219	43	4		4	ITGB3	17	45377874	Silent	SNP	G	TCGA-BP-4987-01A-01D-1462-08		45377874	35817336	19	22021											
STAP2	55620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4325497	4325497	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr19:4325497G>T	ENST00000594605.1	-	10	998	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	STAP2_ENST00000600324.1_Missense_Mutation_p.S292Y|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	292	Pro-rich.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S292Y(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTGGCTAGACGCAGGTGA	0.587																																																1	Substitution - Missense(1)	kidney(1)											87	93	91					19																	4325497		2203	4300	6503	SO:0001583	missense	55620			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.875C>A	19.37:g.4325497G>T	ENSP00000471052:p.Ser292Tyr		A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	G	9.601	1.128731	0.21041	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	3.02	3.02	0.34903	.	2.073350	0.02964	U	0.143494	T	0.43211	0.1237	L	0.36672	1.1	0.09310	N	1	D;P	0.54207	0.965;0.924	P;P	0.51135	0.563;0.66	T	0.41645	-0.9497	9	0.87932	D	0	-17.7188	9.8099	0.40817	0.0:0.0:1.0:0.0	.	292;292	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	Y	292	.	ENSP00000317912:S292Y	S	-	2	0	STAP2	4276497	0.519000	0.26242	0.004000	0.12327	0.050000	0.14768	2.641000	0.46587	2.013000	0.59113	0.479000	0.44913	TCT		0.587	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		T	4325497	G	T	4325497	3	4	398	1	0	0	0	0	1	0	0	0	15258	942	33	4	490	4	STAP2	19	4325497	Missense_Mutation	SNP	G	TCGA-BP-4987-01A-01D-1462-08		4325497	54803486	20	22022											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38985140	38985140	+	Silent	SNP	G	G	A			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr19:38985140G>A	ENST00000359596.3	+	39	6423	c.6423G>A	c.(6421-6423)gcG>gcA	p.A2141A	RYR1_ENST00000355481.4_Silent_p.A2141A|RYR1_ENST00000360985.3_Silent_p.A2141A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2141	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A2141A(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCCGCGGGCGTACACCATCT	0.677																																																1	Substitution - coding silent(1)	kidney(1)											58	53	55					19																	38985140		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6423G>A	19.37:g.38985140G>A			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.677	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38985140	G	A	38985140	2	1	398	1	0	0	0	0	0	0	0	1	13774	1132	40	1		1	RYR1	19	38985140	Silent	SNP	G	TCGA-BP-4987-01A-01D-1462-08	34659643	38985140	20143843	21	22023											
DEFB123	245936	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30037860	30037860	+	Nonsense_Mutation	SNP	T	T	A	rs377702716		TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr20:30037860T>A	ENST00000376309.3	+	2	267	c.87T>A	c.(85-87)taT>taA	p.Y29*		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	29					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.Y29*(1)|p.Y29Y(1)		kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGAATCTTTATGGCAAATGCC	0.428																																																2	Substitution - Nonsense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											152	150	151					20																	30037860		2203	4300	6503	SO:0001587	stop_gained	245936			AA933749	CCDS13180.1	20q11.1	2008-07-17			ENSG00000180424	ENSG00000180424		"Defensins, beta"	18103	protein-coding gene	gene with protein product	"beta defensin 23"					11854508	Standard	NM_153324		Approved	DEFB-23	uc002wvy.3	Q8N688	OTTHUMG00000032170	ENST00000376309.3:c.87T>A	20.37:g.30037860T>A	ENSP00000365486:p.Tyr29*			Nonsense_Mutation	SNP	ENST00000376309.3	37	CCDS13180.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.350383	0.41599	.	.	ENSG00000180424	ENST00000376309	.	.	.	4.52	-1.97	0.07503	.	0.652135	0.13716	N	0.367726	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-0.3934	3.1092	0.06352	0.3405:0.3221:0.0:0.3374	.	.	.	.	X	29	.	ENSP00000365486:Y29X	Y	+	3	2	DEFB123	29501521	0.082000	0.21442	0.589000	0.28718	0.395000	0.30598	-0.744000	0.04839	-0.368000	0.08040	0.533000	0.62120	TAT		0.428	DEFB123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078510.2	NM_153324		A	30037860	T	A	30037860	4	1	398	1	0	0	0	0	0	1	0	0	4411	1471	51	5	93	5	DEFB123	20	30037860	Nonsense_Mutation	SNP	T	TCGA-BP-4987-01A-01D-1462-08		30037860	32987660	22	22024											
PI4KA	5297	broad.mit.edu;hgsc.bcm.edu	37	22	21104191	21104191	+	Splice_Site	SNP	A	A	G			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chr22:21104191A>G	ENST00000572273.1	-	28	3300		c.e28+1		PI4KA_ENST00000255882.6_Splice_Site			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.?(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGTTTCAAGTACCTGCAGGTG	0.483																																					GBM(136;1332 1831 3115 23601 50806)											2	Unknown(2)	kidney(2)											98	84	88					22																	21104191		2203	4300	6503	SO:0001630	splice_region_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3069+1T>C	22.37:g.21104191A>G			Q7Z625|Q9UPG2	Splice_Site	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	A	22.9	4.344991	0.82022	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8319	0.70153	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PI4KA	19434191	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.134000	0.94467	2.102000	0.63906	0.533000	0.62120	.		0.483	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	Intron	G	21104191	A	G	21104191	5	3	398	1	0	0	0	0	0	0	1	0	11875	405	14	3	3175	3	PI4KA	22	21104191	Splice_Site	SNP	A	TCGA-BP-4987-01A-01D-1462-08		21104191	30200375	23	22025											
SHROOM4	57477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	50376678	50376678	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chrX:50376678T>A	ENST00000289292.7	-	4	2678	c.2395A>T	c.(2395-2397)Act>Tct	p.T799S	SHROOM4_ENST00000376020.2_Missense_Mutation_p.T799S|SHROOM4_ENST00000460112.3_Missense_Mutation_p.T683S			Q9ULL8	SHRM4_HUMAN	shroom family member 4	799					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.T799S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGGTAAAAGTCTTGTTGCTA	0.433																																																1	Substitution - Missense(1)	kidney(1)											112	106	108					X																	50376678		2203	4300	6503	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2395A>T	X.37:g.50376678T>A	ENSP00000289292:p.Thr799Ser		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.367939	0.24771	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.87650	-2.28;-2.28;-2.28	5.92	0.712	0.18167	.	0.607699	0.16818	N	0.198262	T	0.71728	0.3374	N	0.24115	0.695	0.19575	N	0.999961	B	0.30406	0.278	B	0.25140	0.058	T	0.56685	-0.7938	10	0.10111	T	0.7	.	7.2264	0.26018	0.0:0.1641:0.4391:0.3968	.	799	Q9ULL8	SHRM4_HUMAN	S	799;799;683	ENSP00000289292:T799S;ENSP00000365188:T799S;ENSP00000421450:T683S	ENSP00000289292:T799S	T	-	1	0	SHROOM4	50393418	0.970000	0.33590	0.984000	0.44739	0.968000	0.65278	0.780000	0.26760	-0.001000	0.14495	-0.360000	0.07572	ACT		0.433	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		A	50376678	T	A	50376678	3	1	398	1	0	0	0	0	1	0	0	0	14302	1667	58	5	2110	5	SHROOM4	23	50376678	Missense_Mutation	SNP	T	TCGA-BP-4987-01A-01D-1462-08		50376678	104893882	24	22026											
MED12	9968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	70342188	70342188	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4987-01A-01D-1462-08	TCGA-BP-4987-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7924f8ff-8e78-4910-9dc5-db14d5ee7011	10d7ba85-b3b5-4a53-a686-70be8848a041	g.chrX:70342188A>G	ENST00000374080.3	+	8	1272	c.1240A>G	c.(1240-1242)Act>Gct	p.T414A	MED12_ENST00000333646.6_Missense_Mutation_p.T414A|MED12_ENST00000374102.1_Missense_Mutation_p.T414A			Q93074	MED12_HUMAN	mediator complex subunit 12	414					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.T414A(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGTGCCTTCACTCAGCAGGT	0.483			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	2	Substitution - Missense(2)	kidney(2)											111	98	102					X																	70342188		2018	4164	6182	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1240A>G	X.37:g.70342188A>G	ENSP00000363193:p.Thr414Ala		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	17.81	3.480955	0.63849	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.04	5.04	0.67666	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.052768	0.85682	D	0.000000	T	0.36054	0.0953	L	0.38175	1.15	0.53688	D	0.999979	B;P;P;B	0.38280	0.336;0.625;0.532;0.387	B;B;P;P	0.48089	0.356;0.315;0.535;0.566	T	0.12293	-1.0553	10	0.44086	T	0.13	-11.8934	13.9873	0.64343	1.0:0.0:0.0:0.0	.	414;261;414;414	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	A	414;414;414;414;382	ENSP00000333125:T414A;ENSP00000363215:T414A;ENSP00000363193:T414A;ENSP00000414203:T382A	ENSP00000333125:T414A	T	+	1	0	MED12	70258913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.497000	0.90488	1.877000	0.54381	0.478000	0.44815	ACT		0.483	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		G	70342188	A	G	70342188	3	3	398	1	0	0	0	0	1	0	0	0	9430	159	6	3	1270	3	MED12	23	70342188	Missense_Mutation	SNP	A	TCGA-BP-4987-01A-01D-1462-08	19965510	70342188	84928372	25	22027											
DNAJC11	55735	broad.mit.edu;ucsc.edu	37	1	6741001	6741001	+	Nonsense_Mutation	SNP	G	G	A	rs201724546		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr1:6741001G>A	ENST00000377577.5	-	2	292	c.169C>T	c.(169-171)Cga>Tga	p.R57*	DNAJC11_ENST00000542246.1_Nonsense_Mutation_p.R19*|DNAJC11_ENST00000349363.6_Nonsense_Mutation_p.R19*|DNAJC11_ENST00000377573.5_De_novo_Start_OutOfFrame|DNAJC11_ENST00000294401.7_Nonsense_Mutation_p.R57*	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	57	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.R57*(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TTAAACAGTCGTTCCGCCTGT	0.498																																																2	Substitution - Nonsense(2)	kidney(2)											178	163	168					1																	6741001		2203	4300	6503	SO:0001587	stop_gained	55735			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.169C>T	1.37:g.6741001G>A	ENSP00000366800:p.Arg57*		Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Nonsense_Mutation	SNP	ENST00000377577.5	37	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110672	0.94292	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000426784	.	.	.	5.48	4.56	0.56223	.	0.167013	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-0.7373	14.8445	0.70251	0.0:0.0:0.8556:0.1444	.	.	.	.	X	57;33;19;57;19;57	.	ENSP00000294401:R57X	R	-	1	2	DNAJC11	6663588	1.000000	0.71417	0.020000	0.16555	0.196000	0.23810	7.517000	0.81783	1.296000	0.44742	0.655000	0.94253	CGA		0.498	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		A	6741001	G	A	6741001	4	1	399	1	0	0	0	0	0	1	0	0	4632	1153	40	1	1570	1	DNAJC11	1	6741001	Nonsense_Mutation	SNP	G	TCGA-BP-4988-01A-01D-1462-08		6741001	242509620	1	22028											
KIAA2013	90231	hgsc.bcm.edu	37	1	11985493	11985494	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr1:11985493_11985494delTC	ENST00000376572.3	-	1	986_987	c.801_802delGA	c.(799-804)aagaagfs	p.KK267fs	KIAA2013_ENST00000376576.3_Frame_Shift_Del_p.KK267fs	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	267						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACCAGCTTCTTGGCGGCCA	0.634																																																0																																										SO:0001589	frameshift_variant	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.801_802delGA	1.37:g.11985493_11985494delTC	ENSP00000365756:p.Lys267fs		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Frame_Shift_Del	DEL	ENST00000376572.3	37	CCDS141.1																																																																																				0.634	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		-	11985494	TC	-	11985493	7	5	399	1	0	1	0	1	0	0	0	0	8269	1792	62	0	1114	0	KIAA2013	1	11985493	Frame_Shift_Del	DEL	TC	TCGA-BP-4988-01A-01D-1462-08	5244492	11985493	237265128	2	22029											
CYP4X1	260293	broad.mit.edu;ucsc.edu	37	1	47498916	47498916	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr1:47498916A>C	ENST00000371901.3	+	4	618	c.368A>C	c.(367-369)aAa>aCa	p.K123T	CYP4X1_ENST00000538609.1_Missense_Mutation_p.K122T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	123						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.K123T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCTCAAGGAAAAGGACTAGCG	0.448																																																1	Substitution - Missense(1)	kidney(1)											75	69	71					1																	47498916		2203	4300	6503	SO:0001583	missense	260293			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.368A>C	1.37:g.47498916A>C	ENSP00000360968:p.Lys123Thr		G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	CCDS544.1	.	.	.	.	.	.	.	.	.	.	A	4.733	0.136362	0.09032	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.70164	-0.46;-0.35	5.91	3.56	0.40772	.	0.874252	0.10466	N	0.671402	T	0.47210	0.1433	N	0.11560	0.145	0.20563	N	0.999889	B;B	0.17038	0.009;0.02	B;B	0.20577	0.029;0.03	T	0.33624	-0.9861	10	0.27785	T	0.31	.	9.6907	0.40127	0.8551:0.0:0.1449:0.0	.	123;122	Q8N118;G3V1U1	CP4X1_HUMAN;.	T	122;123	ENSP00000445965:K122T;ENSP00000360968:K123T	ENSP00000360968:K123T	K	+	2	0	CYP4X1	47271503	0.934000	0.31675	0.599000	0.28851	0.048000	0.14542	4.317000	0.59184	0.479000	0.27511	0.482000	0.46254	AAA		0.448	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		C	47498916	A	C	47498916	3	2	399	1	0	0	0	0	1	0	0	0	4195	14	1	5	382	5	CYP4X1	1	47498916	Missense_Mutation	SNP	A	TCGA-BP-4988-01A-01D-1462-08	35513423	47498916	201751705	3	22030											
RALGPS2	55103	broad.mit.edu	37	1	178753614	178753614	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr1:178753614C>A	ENST00000367635.3	+	3	457	c.119C>A	c.(118-120)gCt>gAt	p.A40D	RALGPS2_ENST00000367634.2_Missense_Mutation_p.A40D	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	40					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A40D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGCTTTGATGCTGTGGTATTC	0.388																																																1	Substitution - Missense(1)	kidney(1)											135	126	129					1																	178753614		2203	4300	6503	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.119C>A	1.37:g.178753614C>A	ENSP00000356607:p.Ala40Asp		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667479	0.88348	.	.	ENSG00000116191	ENST00000367635;ENST00000367634	T;T	0.30182	1.54;1.54	5.32	4.39	0.52855	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.984;0.996	P;D	0.65233	0.808;0.933	T	0.39396	-0.9616	10	0.31617	T	0.26	.	14.9151	0.70789	0.0:0.8556:0.1444:0.0	.	40;40	B7Z7B1;Q86X27	.;RGPS2_HUMAN	D	40	ENSP00000356607:A40D;ENSP00000356606:A40D	ENSP00000356606:A40D	A	+	2	0	RALGPS2	177020237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.049000	0.76613	1.218000	0.43458	0.467000	0.42956	GCT		0.388	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		A	178753614	C	A	178753614	3	1	399	1	0	0	0	0	1	0	0	0	13024	797	28	4	125	4	RALGPS2	1	178753614	Missense_Mutation	SNP	C	TCGA-BP-4988-01A-01D-1462-08	131254698	178753614	70497007	4	22031											
SCCPDH	51097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	246923346	246923346	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr1:246923346A>T	ENST00000366510.3	+	8	1277	c.901A>T	c.(901-903)Agg>Tgg	p.R301W		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	301						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.R301W(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GTTCTTTGTGAGGTTTGGAAT	0.323																																																1	Substitution - Missense(1)	kidney(1)											255	232	240					1																	246923346		2203	4300	6503	SO:0001583	missense	51097				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.901A>T	1.37:g.246923346A>T	ENSP00000355467:p.Arg301Trp		Q8TAR0|Q9Y363	Missense_Mutation	SNP	ENST00000366510.3	37	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492797	0.84962	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.44881	0.91	5.43	5.43	0.79202	.	0.444509	0.28730	N	0.014339	T	0.56949	0.2020	L	0.51914	1.62	0.37490	D	0.916363	D	0.56035	0.974	P	0.61940	0.896	T	0.64210	-0.6461	10	0.72032	D	0.01	.	15.4512	0.75274	1.0:0.0:0.0:0.0	.	301	Q8NBX0	SCPDL_HUMAN	W	301;132	ENSP00000355467:R301W	ENSP00000355466:R132W	R	+	1	2	SCCPDH	244989969	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	5.330000	0.65899	2.179000	0.69175	0.533000	0.62120	AGG		0.323	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002		T	246923346	A	T	246923346	3	4	399	1	0	0	0	0	1	0	0	0	13891	295	11	5	931	5	SCCPDH	1	246923346	Missense_Mutation	SNP	A	TCGA-BP-4988-01A-01D-1462-08	68169732	246923346	2327275	5	22032											
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61571006	61571006	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr2:61571006T>C	ENST00000398571.2	-	16	2520	c.2444A>G	c.(2443-2445)cAc>cGc	p.H815R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	815					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.H815R(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGTTGGAGGTGAGATGTCAG	0.363																																																1	Substitution - Missense(1)	kidney(1)											153	144	147					2																	61571006		1928	4134	6062	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2444A>G	2.37:g.61571006T>C	ENSP00000381577:p.His815Arg		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892678	0.91889	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03553	3.89	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.03477	0.0100	N	0.22421	0.69	0.58432	D	0.999997	P	0.37466	0.596	B	0.32211	0.142	T	0.58086	-0.7698	10	0.39692	T	0.17	.	15.9112	0.79475	0.0:0.0:0.0:1.0	.	815	Q70CQ2	UBP34_HUMAN	R	663;663;815	ENSP00000381577:H815R	ENSP00000263989:H663R	H	-	2	0	USP34	61424510	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.026000	0.88783	2.161000	0.67846	0.491000	0.48974	CAC		0.363	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			C	61571006	T	C	61571006	3	2	399	1	0	0	0	0	1	0	0	0	17070	1696	59	3	8456	3	USP34	2	61571006	Missense_Mutation	SNP	T	TCGA-BP-4988-01A-01D-1462-08		61571006	181628367	6	22033											
LCT	3938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	136566891	136566891	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr2:136566891G>T	ENST00000264162.2	-	8	3036	c.3026C>A	c.(3025-3027)gCa>gAa	p.A1009E	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1009	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.A1009E(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GATGTTGCTTGCCACCAAGCC	0.493																																																1	Substitution - Missense(1)	kidney(1)											62	65	64					2																	136566891		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3026C>A	2.37:g.136566891G>T	ENSP00000264162:p.Ala1009Glu		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	5.877	0.346011	0.11126	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.49720	0.77	5.78	2.89	0.33648	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.280226	0.45361	N	0.000373	T	0.32346	0.0826	N	0.25647	0.755	0.38209	D	0.94042	B	0.15141	0.012	B	0.26969	0.075	T	0.21999	-1.0229	10	0.02654	T	1	-3.2144	14.4858	0.67616	0.0:0.0:0.4743:0.5257	.	1009	P09848	LPH_HUMAN	E	1009;441	ENSP00000264162:A1009E	ENSP00000264162:A1009E	A	-	2	0	LCT	136283361	0.939000	0.31865	0.893000	0.35052	0.721000	0.41392	2.114000	0.41911	0.300000	0.22699	0.563000	0.77884	GCA		0.493	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		T	136566891	G	T	136566891	3	4	399	1	0	0	0	0	1	0	0	0	8695	1319	46	4	2797	4	LCT	2	136566891	Missense_Mutation	SNP	G	TCGA-BP-4988-01A-01D-1462-08	74995885	136566891	106632482	7	22034											
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170060531	170060531	+	Nonsense_Mutation	SNP	C	C	A	rs201403741		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr2:170060531C>A	ENST00000263816.3	-	42	8251	c.7966G>T	c.(7966-7968)Gaa>Taa	p.E2656*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2656	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E2656*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTAAACTGTTCACAAGGATTG	0.443																																																1	Substitution - Nonsense(1)	kidney(1)											128	128	128					2																	170060531		2203	4300	6503	SO:0001587	stop_gained	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7966G>T	2.37:g.170060531C>A	ENSP00000263816:p.Glu2656*		O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	50	16.852907	0.99873	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.58	1.3	0.21679	.	0.635407	0.17209	N	0.182812	.	.	.	.	.	.	0.35175	D	0.771902	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	8.3968	0.32561	0.0:0.3407:0.0:0.6593	.	.	.	.	X	2656	.	ENSP00000263816:E2656X	E	-	1	0	LRP2	169768777	0.714000	0.27936	0.095000	0.20976	0.931000	0.56810	0.886000	0.28241	-0.003000	0.14444	0.655000	0.94253	GAA		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170060531	C	A	170060531	4	1	399	1	0	0	0	0	0	1	0	0	8958	835	29	4	6153	4	LRP2	2	170060531	Nonsense_Mutation	SNP	C	TCGA-BP-4988-01A-01D-1462-08	33493640	170060531	73138842	8	22035											
CNTN6	27255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	1363473	1363473	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr3:1363473A>G	ENST00000446702.2	+	8	1528	c.901A>G	c.(901-903)Aac>Gac	p.N301D	CNTN6_ENST00000350110.2_Missense_Mutation_p.N301D|CNTN6_ENST00000539053.1_Missense_Mutation_p.N229D			Q9UQ52	CNTN6_HUMAN	contactin 6	301	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.N301D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATTGCAAGCAACCTTCGAGG	0.388																																																1	Substitution - Missense(1)	kidney(1)											113	118	116					3																	1363473		2203	4299	6502	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.901A>G	3.37:g.1363473A>G	ENSP00000407822:p.Asn301Asp		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840071	0.91117	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	D;D;D	0.84660	-1.88;-1.88;-1.88	5.9	5.9	0.94986	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.64402	D	0.000003	D	0.95503	0.8539	H	0.98276	4.19	0.58432	D	0.999997	D	0.69078	0.997	D	0.79784	0.993	D	0.97152	0.9832	10	0.87932	D	0	.	14.9032	0.70696	1.0:0.0:0.0:0.0	.	301	Q9UQ52	CNTN6_HUMAN	D	301;229;301	ENSP00000407822:N301D;ENSP00000442791:N229D;ENSP00000341882:N301D	ENSP00000341882:N301D	N	+	1	0	CNTN6	1338473	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.487000	0.90454	2.251000	0.74343	0.528000	0.53228	AAC		0.388	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		G	1363473	A	G	1363473	3	3	399	1	0	0	0	0	1	0	0	0	3647	130	5	3	927	3	CNTN6	3	1363473	Missense_Mutation	SNP	A	TCGA-BP-4988-01A-01D-1462-08		1363473	196658957	9	22036											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191480	10191481	+	Missense_Mutation	DNP	TG	TG	CC	rs121913346		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr3:10191480_10191481TG>CC	ENST00000256474.2	+	3	1313_1314	c.473_474TG>CC	c.(472-474)cTG>cCC	p.L158P	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.L117P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158Q(6)|p.L158P(5)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.K159fs*10(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158>?(1)|p.L158fs*15(1)|p.L158L(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGTATACTCTGAAAGAGCGAT	0.505		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	26	Substitution - Missense(12)|Deletion - Frameshift(7)|Deletion - In frame(3)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)|Substitution - coding silent(1)	kidney(26)	GRCh37	CI024083|CI962364|CM941379|CX071477	VHL	I|M|X	rs121913346																																			SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	Exception_encountered	3.37:g.10191480_10191481delinsCC	ENSP00000256474:p.Leu158Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation|Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.505	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		CC	10191481	TG	CC	10191480	3	2	399	1	0	0	0	0	1	0	0	0	17167	1580	55	3	483	3	VHL	3	10191480	Missense_Mutation	DNP	TG	TCGA-BP-4988-01A-01D-1462-08	8828007	10191480	187830950	10	22037											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643348	52643348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr3:52643348G>A	ENST00000296302.7	-	16	2549	c.2548C>T	c.(2548-2550)Cga>Tga	p.R850*	PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R850*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R865*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R850*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R850*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R818*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R850*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R865*			Q86U86	PB1_HUMAN	polybromo 1	850	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R850*(4)|p.R818*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTCTTGCTCGTTCCAATACT	0.333			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											65	65	65					3																	52643348		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2548C>T	3.37:g.52643348G>A	ENSP00000296302:p.Arg850*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	39	7.754433	0.98471	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.08	3.64	0.41730	.	0.042238	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.3202	14.3827	0.66921	0.0:0.0:0.495:0.5049	.	.	.	.	X	818;850;850;850;850;850;865;865;850;809	.	ENSP00000296302:R850X	R	-	1	2	PBRM1	52618388	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.755000	0.47540	0.509000	0.28195	-0.266000	0.10368	CGA		0.333	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52643348	G	A	52643348	4	1	399	1	0	0	0	0	0	1	0	0	11493	1153	40	1	2412	1	PBRM1	3	52643348	Nonsense_Mutation	SNP	G	TCGA-BP-4988-01A-01D-1462-08	42451868	52643348	145379082	11	22038											
CHRD	8646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184102984	184102984	+	Silent	SNP	G	G	T	rs202079204		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr3:184102984G>T	ENST00000204604.1	+	14	2022	c.1776G>T	c.(1774-1776)acG>acT	p.T592T	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.T222T|CHRD_ENST00000348986.3_Silent_p.T552T|CHRD_ENST00000450923.1_Silent_p.T592T	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	592	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.T592T(1)|p.T305T(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCCTGGAACGCCAGGGCCTC	0.567																																																2	Substitution - coding silent(2)	kidney(2)											67	71	70					3																	184102984		2203	4300	6503	SO:0001819	synonymous_variant	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1776G>T	3.37:g.184102984G>T			O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	37	CCDS3266.1																																																																																				0.567	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		T	184102984	G	T	184102984	2	4	399	1	0	0	0	0	0	0	0	1	3374	1074	38	4		4	CHRD	3	184102984	Silent	SNP	G	TCGA-BP-4988-01A-01D-1462-08	131459636	184102984	13919446	12	22039											
ATP13A4	84239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	193188727	193188727	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr3:193188727C>A	ENST00000342695.4	-	9	1186	c.864G>T	c.(862-864)ttG>ttT	p.L288F	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L288F|ATP13A4_ENST00000295548.3_Missense_Mutation_p.L288F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	288						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L288F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGTTCCCTGTCAAAATTAATA	0.488																																																1	Substitution - Missense(1)	kidney(1)											170	160	164					3																	193188727		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.864G>T	3.37:g.193188727C>A	ENSP00000339182:p.Leu288Phe		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721227	0.68959	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.91237	-2.81;-2.81;-2.81	5.44	4.56	0.56223	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.49916	D	0.000138	D	0.94241	0.8151	M	0.78637	2.42	0.40096	D	0.976311	D;D	0.76494	0.999;0.999	D;D	0.80764	0.991;0.994	D	0.94199	0.7448	10	0.62326	D	0.03	-13.1536	9.6873	0.40107	0.0:0.8424:0.0:0.1576	.	288;288	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	F	288	ENSP00000376238:L288F;ENSP00000339182:L288F;ENSP00000295548:L288F	ENSP00000295548:L288F	L	-	3	2	ATP13A4	194671421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.452000	0.35156	1.288000	0.44600	0.650000	0.86243	TTG		0.488	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		A	193188727	C	A	193188727	3	1	399	1	0	0	0	0	1	0	0	0	1126	825	29	4	2814	4	ATP13A4	3	193188727	Missense_Mutation	SNP	C	TCGA-BP-4988-01A-01D-1462-08	9085743	193188727	4833703	13	22040											
LETM1	3954	hgsc.bcm.edu	37	4	1823987	1823988	+	Frame_Shift_Ins	INS	-	-	C	rs143969650		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr4:1823987_1823988insC	ENST00000302787.2	-	10	1824_1825	c.1528_1529insG	c.(1528-1530)gagfs	p.E510fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	510					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGGCTGTGGCTCGGTCCCCGGC	0.604																																																0										5,4261		0,5,2128						2.4	0.1			60	17,8235		0,17,4109	no	frameshift	LETM1	NM_012318.2		0,22,6237	A1A1,A1R,RR		0.206,0.1172,0.1757				22,12496				SO:0001589	frameshift_variant	3954			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1529dupG	4.37:g.1823988_1823988dupC	ENSP00000305653:p.Glu510fs		B4DED2|Q9UF65	Frame_Shift_Ins	INS	ENST00000302787.2	37	CCDS3355.1																																																																																				0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			C	1823988	-	C	1823987	7	5	399	1	0	1	1	0	0	0	0	0	8736	1551	54	0	710	0	LETM1	4	1823987	Frame_Shift_Ins	INS	-	TCGA-BP-4988-01A-01D-1462-08		1823987	189330289	14	22041											
BOD1L	259282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	13605133	13605133	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr4:13605133C>T	ENST00000040738.5	-	10	3526	c.3391G>A	c.(3391-3393)Gtg>Atg	p.V1131M		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1131						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V1131M(1)									ACTTCAAACACATTTTCAACA	0.388																																																1	Substitution - Missense(1)	kidney(1)											116	124	121					4																	13605133		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3391G>A	4.37:g.13605133C>T	ENSP00000040738:p.Val1131Met		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880559	0.17467	.	.	ENSG00000038219	ENST00000040738	T	0.09445	2.98	5.35	1.54	0.23209	.	0.707032	0.12241	N	0.486488	T	0.09512	0.0234	L	0.50333	1.59	0.09310	N	0.999999	P	0.44877	0.845	B	0.39840	0.311	T	0.23048	-1.0199	10	0.48119	T	0.1	-0.9646	3.9503	0.09366	0.2927:0.4825:0.0:0.2249	.	1131	Q8NFC6	BOD1L_HUMAN	M	1131	ENSP00000040738:V1131M	ENSP00000040738:V1131M	V	-	1	0	BOD1L	13214231	0.036000	0.19791	0.328000	0.25416	0.575000	0.36095	0.600000	0.24104	0.207000	0.20607	0.655000	0.94253	GTG		0.388	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		T	13605133	C	T	13605133	3	4	399	1	0	0	0	0	1	0	0	0	1483	478	17	2	5832	2	BOD1L	4	13605133	Missense_Mutation	SNP	C	TCGA-BP-4988-01A-01D-1462-08	11781146	13605133	177549143	15	22042											
GABRB1	2560	broad.mit.edu;ucsc.edu	37	4	47033947	47033947	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr4:47033947A>C	ENST00000295454.3	+	2	389	c.97A>C	c.(97-99)Aac>Cac	p.N33H	GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	33					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.N33H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGAACCCAGCAACATGTCATA	0.458																																																1	Substitution - Missense(1)	kidney(1)											226	221	223					4																	47033947		2203	4300	6503	SO:0001583	missense	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.97A>C	4.37:g.47033947A>C	ENSP00000295454:p.Asn33His		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.561555	0.45590	.	.	ENSG00000163288	ENST00000295454	D	0.81821	-1.54	4.42	3.24	0.37175	.	0.000000	0.64402	D	0.000014	T	0.80491	0.4633	L	0.27053	0.805	0.80722	D	1	D;P	0.89917	1.0;0.7	D;B	0.87578	0.998;0.383	T	0.77112	-0.2708	10	0.39692	T	0.17	-17.8862	8.0813	0.30746	0.9029:0.0:0.0971:0.0	.	33;33	B4DJD0;P18505	.;GBRB1_HUMAN	H	33	ENSP00000295454:N33H	ENSP00000295454:N33H	N	+	1	0	GABRB1	46728704	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	8.744000	0.91596	0.750000	0.32877	-0.266000	0.10368	AAC		0.458	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			C	47033947	A	C	47033947	3	2	399	1	0	0	0	0	1	0	0	0	6168	130	5	5	103	5	GABRB1	4	47033947	Missense_Mutation	SNP	A	TCGA-BP-4988-01A-01D-1462-08	33428814	47033947	144120329	16	22043											
UGT2A1	10941	broad.mit.edu	37	4	70455274	70455274	+	Missense_Mutation	SNP	C	C	T	rs150861593	byFrequency	TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr4:70455274C>T	ENST00000503640.1	-	6	1455	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	UGT2A1_ENST00000512704.1_Missense_Mutation_p.R423H|UGT2A1_ENST00000502343.1_5'Flank|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R633H|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R467H|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R476H	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	467					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R476H(1)|p.R467H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCCTTTGTGGCGCATGACAAA	0.478													C|||	2	0.000399361	0.0	0.0	5008	,	,		15047	0.0		0.002	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)						C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135	132	133		1427,1400	3.8	1	4	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UGT2A1,UGT2A2	NM_001105677.2,NM_006798.2	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	476/537,467/528	70455274	2,13004	2203	4300	6503	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1400G>A	4.37:g.70455274C>T	ENSP00000424478:p.Arg467His		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	17.60	3.430418	0.62844	2.27E-4	1.16E-4	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	4.65	3.81	0.43845	.	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	M	0.84082	2.675	.	.	.	D;P;D;D;D	0.89917	1.0;0.854;1.0;0.999;1.0	D;B;D;P;D	0.87578	0.998;0.33;0.98;0.897;0.963	D	0.88284	0.2938	9	0.66056	D	0.02	.	11.5837	0.50906	0.0:0.9092:0.0:0.0908	.	633;633;423;476;467	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	H	476;467;423;633;467	ENSP00000387888:R476H;ENSP00000424478:R467H;ENSP00000421432:R423H;ENSP00000425497:R633H;ENSP00000286604:R467H	ENSP00000286604:R467H	R	-	2	0	UGT2A1	70489863	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.704000	0.61831	1.277000	0.44412	0.579000	0.79373	CGC		0.478	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		T	70455274	C	T	70455274	3	4	399	1	0	0	0	0	1	0	0	0	16958	768	27	1	187	1	UGT2A1	4	70455274	Missense_Mutation	SNP	C	TCGA-BP-4988-01A-01D-1462-08	23421327	70455274	120699002	17	22044											
PCDH10	57575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	134071487	134071487	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr4:134071487A>C	ENST00000264360.5	+	1	1018	c.192A>C	c.(190-192)ttA>ttC	p.L64F	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	64	Cadherin 1. {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)	p.L64F(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCTTACTTAGACCTCAACC	0.532																																																1	Substitution - Missense(1)	kidney(1)											90	94	93					4																	134071487		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.192A>C	4.37:g.134071487A>C	ENSP00000264360:p.Leu64Phe		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.320365	0.41096	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.31510	1.49	4.77	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.36703	N	0.002446	T	0.31358	0.0794	N	0.05608	-0.01	0.58432	D	0.999999	D;B	0.89917	1.0;0.287	D;B	0.87578	0.998;0.311	T	0.11591	-1.0581	10	0.31617	T	0.26	.	10.7305	0.46093	0.1:0.0:0.9:0.0	.	64;64	Q9P2E7;Q96SF0	PCD10_HUMAN;.	F	64	ENSP00000264360:L64F	ENSP00000264360:L64F	L	+	3	2	PCDH10	134290937	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.439000	0.59968	1.107000	0.41642	0.454000	0.30748	TTA		0.532	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		C	134071487	A	C	134071487	3	2	399	1	0	0	0	0	1	0	0	0	11509	417	15	5	194	5	PCDH10	4	134071487	Missense_Mutation	SNP	A	TCGA-BP-4988-01A-01D-1462-08	63616213	134071487	57082789	18	22045											
ST8SIA4	7903	hgsc.bcm.edu;ucsc.edu	37	5	100147701	100147701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr5:100147701delT	ENST00000231461.5	-	5	1240	c.930delA	c.(928-930)aaafs	p.K310fs		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	310					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATTTGACCGCTTTTCCATTTA	0.378																																																0													82	76	78					5																	100147701		2203	4300	6503	SO:0001589	frameshift_variant	7903			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.930delA	5.37:g.100147701delT	ENSP00000231461:p.Lys310fs		A8KA07|G3V104|Q8N1F4|Q92693	Frame_Shift_Del	DEL	ENST00000231461.5	37	CCDS4091.1																																																																																				0.378	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		-	100147701	T	-	100147701	7	5	399	1	0	1	0	1	0	0	0	0	15239	1606	56	0	153	0	ST8SIA4	5	100147701	Frame_Shift_Del	DEL	T	TCGA-BP-4988-01A-01D-1462-08		100147701	80767559	19	22046											
CSNK1G3	1456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	122911473	122911473	+	Silent	SNP	A	A	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr5:122911473A>G	ENST00000361991.2	+	5	519	c.489A>G	c.(487-489)gtA>gtG	p.V163V	CSNK1G3_ENST00000360683.2_Silent_p.V163V|CSNK1G3_ENST00000511130.2_Silent_p.V50V|CSNK1G3_ENST00000395412.1_Silent_p.V163V|CSNK1G3_ENST00000512718.3_Silent_p.V88V|CSNK1G3_ENST00000395411.1_Silent_p.V163V|CSNK1G3_ENST00000345990.4_Silent_p.V163V|CSNK1G3_ENST00000510842.2_Silent_p.V163V|CSNK1G3_ENST00000521364.1_Silent_p.V163V			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V163V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ACAGAGATGTAAAACCTGAGA	0.348																																					Pancreas(187;2868 2964 4353 6297)											1	Substitution - coding silent(1)	kidney(1)											66	67	67					5																	122911473		2203	4300	6503	SO:0001819	synonymous_variant	1456			AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.489A>G	5.37:g.122911473A>G			A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Silent	SNP	ENST00000361991.2	37	CCDS4135.1																																																																																				0.348	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		G	122911473	A	G	122911473	2	3	399	1	0	0	0	0	0	0	0	1	3958	349	13	3		3	CSNK1G3	5	122911473	Silent	SNP	A	TCGA-BP-4988-01A-01D-1462-08	22763772	122911473	58003787	20	22047											
NSD1	64324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176637818	176637818	+	Silent	SNP	A	A	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr5:176637818A>C	ENST00000439151.2	+	5	2463	c.2418A>C	c.(2416-2418)atA>atC	p.I806I	NSD1_ENST00000361032.4_Silent_p.I703I|NSD1_ENST00000354179.4_Silent_p.I537I|NSD1_ENST00000347982.4_Silent_p.I537I	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	806					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.I806I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCCAGTTATAAATGAGGAGT	0.408			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - coding silent(2)	kidney(2)											52	52	52					5																	176637818		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2418A>C	5.37:g.176637818A>C			Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	CCDS4412.1																																																																																				0.408	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		C	176637818	A	C	176637818	2	2	399	1	0	0	0	0	0	0	0	1	10671	352	13	5		5	NSD1	5	176637818	Silent	SNP	A	TCGA-BP-4988-01A-01D-1462-08	53726345	176637818	4277442	21	22048											
BAI3	577	broad.mit.edu	37	6	69349081	69349081	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr6:69349081T>C	ENST00000370598.1	+	3	1335	c.514T>C	c.(514-516)Tgt>Cgt	p.C172R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	172					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C172R(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCATGTATTATGTACTTGGTT	0.413																																																1	Substitution - Missense(1)	kidney(1)											77	78	78					6																	69349081		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.514T>C	6.37:g.69349081T>C	ENSP00000359630:p.Cys172Arg		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233008	0.58777	.	.	ENSG00000135298	ENST00000370598	T	0.47177	0.85	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	L	0.57536	1.79	0.80722	D	1	D	0.57571	0.98	D	0.71656	0.974	T	0.62831	-0.6771	10	0.87932	D	0	.	15.4128	0.74941	0.0:0.0:0.0:1.0	.	172	O60242	BAI3_HUMAN	R	172	ENSP00000359630:C172R	ENSP00000359630:C172R	C	+	1	0	BAI3	69405802	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.655000	0.83696	2.109000	0.64355	0.533000	0.62120	TGT		0.413	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			C	69349081	T	C	69349081	3	2	399	1	0	0	0	0	1	0	0	0	1300	1464	51	3	516	3	BAI3	6	69349081	Missense_Mutation	SNP	T	TCGA-BP-4988-01A-01D-1462-08		69349081	101765986	22	22049											
KIAA0146	23514	broad.mit.edu;ucsc.edu	37	8	48309113	48309113	+	Silent	SNP	T	T	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr8:48309113T>C	ENST00000297423.4	+	6	1087	c.703T>C	c.(703-705)Ttg>Ctg	p.L235L	SPIDR_ENST00000541342.1_Silent_p.L165L|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Silent_p.L175L	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	235	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.L235L(1)									AGAGACCATTTTGCATACACC	0.398																																																1	Substitution - coding silent(1)	kidney(1)											155	152	153					8																	48309113		1863	4112	5975	SO:0001819	synonymous_variant	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.703T>C	8.37:g.48309113T>C			B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	CCDS43737.1																																																																																				0.398	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		C	48309113	T	C	48309113	2	2	399	1	0	0	0	0	0	0	0	1	8159	1838	64	3		3	KIAA0146	8	48309113	Silent	SNP	T	TCGA-BP-4988-01A-01D-1462-08		48309113	98054909	23	22050											
DCAF4L2	138009	broad.mit.edu;ucsc.edu	37	8	88885732	88885732	+	Silent	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr8:88885732G>A	ENST00000319675.3	-	1	564	c.468C>T	c.(466-468)gcC>gcT	p.A156A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	156								p.A156A(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGAGCAGCACGGCACAGCTTG	0.552																																																1	Substitution - coding silent(1)	kidney(1)											97	90	93					8																	88885732		2203	4300	6503	SO:0001819	synonymous_variant	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.468C>T	8.37:g.88885732G>A				Silent	SNP	ENST00000319675.3	37	CCDS6245.1																																																																																				0.552	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		A	88885732	G	A	88885732	2	1	399	1	0	0	0	0	0	0	0	1	4274	1103	39	1		1	DCAF4L2	8	88885732	Silent	SNP	G	TCGA-BP-4988-01A-01D-1462-08	40576619	88885732	57478290	24	22051											
TRAPPC9	83696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141415691	141415691	+	Silent	SNP	A	A	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr8:141415691A>G	ENST00000438773.2	-	6	1126	c.993T>C	c.(991-993)atT>atC	p.I331I	TRAPPC9_ENST00000389327.3_Silent_p.I322I|TRAPPC9_ENST00000389328.4_Silent_p.I429I	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	331					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.I429I(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TGTAATAGGAAATCGCCTCTT	0.398																																																1	Substitution - coding silent(1)	kidney(1)											146	126	133					8																	141415691		2203	4300	6503	SO:0001819	synonymous_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.993T>C	8.37:g.141415691A>G			Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344219	0.24339	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.7	-6.36	0.01969	.	.	.	.	.	T	0.53834	0.1821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57476	-0.7805	4	.	.	.	.	12.0366	0.53429	0.3019:0.1139:0.5842:0.0	.	.	.	.	L	175	.	.	F	-	1	0	TRAPPC9	141484873	1.000000	0.71417	0.633000	0.29310	0.956000	0.61745	0.966000	0.29331	-1.594000	0.01615	0.533000	0.62120	TTC		0.398	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		G	141415691	A	G	141415691	2	3	399	1	0	0	0	0	0	0	0	1	16470	10	1	3		3	TRAPPC9	8	141415691	Silent	SNP	A	TCGA-BP-4988-01A-01D-1462-08	52529959	141415691	4948331	25	22052											
FLJ46321	389763	broad.mit.edu;hgsc.bcm.edu	37	9	84607804	84607804	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr9:84607804A>T	ENST00000344803.2	+	4	2466	c.2419A>T	c.(2419-2421)Act>Tct	p.T807S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	807					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T807S(2)									AGACCTAGAAACTCATATGAT	0.468																																																2	Substitution - Missense(2)	kidney(2)											74	72	73					9																	84607804		1872	4091	5963	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2419A>T	9.37:g.84607804A>T	ENSP00000341988:p.Thr807Ser			Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.192413	0.00302	.	.	ENSG00000214929	ENST00000344803	T	0.05786	3.39	2.74	-5.48	0.02592	.	17.996800	0.00166	N	0.000000	T	0.01320	0.0043	N	0.00275	-1.725	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.33979	-0.9847	10	0.02654	T	1	1.7005	5.0752	0.14628	0.183:0.0:0.4146:0.4024	.	807	Q6ZQQ2	F75D1_HUMAN	S	807	ENSP00000341988:T807S	ENSP00000341988:T807S	T	+	1	0	FAM75D1	83797624	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.806000	0.04525	-2.695000	0.00402	-0.400000	0.06385	ACT		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84607804	A	T	84607804	3	4	399	1	0	0	0	0	1	0	0	0	5934	43	2	5	2433	5	FLJ46321	9	84607804	Missense_Mutation	SNP	A	TCGA-BP-4988-01A-01D-1462-08		84607804	56605627	26	22053											
NUP214	8021	broad.mit.edu;hgsc.bcm.edu	37	9	134077067	134077067	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr9:134077067G>C	ENST00000359428.5	+	30	5699	c.5555G>C	c.(5554-5556)gGt>gCt	p.G1852A	NUP214_ENST00000451030.1_Missense_Mutation_p.G1853A|NUP214_ENST00000483497.2_Missense_Mutation_p.G678A|NUP214_ENST00000411637.2_Missense_Mutation_p.G1842A			P35658	NU214_HUMAN	nucleoporin 214kDa	1852	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.G1852A(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCTGTGTTTGGTCAAGCAGCC	0.353			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	1	Substitution - Missense(1)	kidney(1)											196	172	180					9																	134077067		2203	4300	6503	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5555G>C	9.37:g.134077067G>C	ENSP00000352400:p.Gly1852Ala		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649994	0.87958	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.67171	0.31;0.33;0.31;-0.25	5.81	5.81	0.92471	.	0.000000	0.43260	D	0.000581	T	0.68229	0.2978	N	0.08118	0	0.53005	D	0.999969	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.979;0.979	T	0.71758	-0.4496	10	0.38643	T	0.18	-20.7052	19.0807	0.93180	0.0:0.0:1.0:0.0	.	678;1446;1842;1852	B7ZAV2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	A	1852;1842;1853;1831;1446;1281;678	ENSP00000352400:G1852A;ENSP00000396576:G1842A;ENSP00000405014:G1853A;ENSP00000436793:G678A	ENSP00000352400:G1852A	G	+	2	0	NUP214	133066888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.714000	0.74692	2.756000	0.94617	0.557000	0.71058	GGT		0.353	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		C	134077067	G	C	134077067	3	2	399	1	0	0	0	0	1	0	0	0	10764	1261	44	4	5673	4	NUP214	9	134077067	Missense_Mutation	SNP	G	TCGA-BP-4988-01A-01D-1462-08	49469263	134077067	7136364	27	22054											
TRIM6	117854	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5624933	5624933	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr11:5624933T>G	ENST00000278302.5	+	2	531	c.391T>G	c.(391-393)Ttc>Gtc	p.F131V	HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000380097.3_Missense_Mutation_p.F159V|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000380107.1_Missense_Mutation_p.F105V|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_5'UTR|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.F159V|TRIM6_ENST00000507320.1_5'UTR	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	131					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.F159V(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCACCACACGTTCCTCGTGGA	0.532																																																2	Substitution - Missense(2)	kidney(2)											97	91	93					11																	5624933		2201	4297	6498	SO:0001583	missense	117854			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.391T>G	11.37:g.5624933T>G	ENSP00000278302:p.Phe131Val		A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.566753	0.45694	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000380107;ENST00000380097;ENST00000396867;ENST00000337072;ENST00000354852	T;T;T;T	0.53857	0.6;0.6;0.6;1.62	4.09	2.93	0.34026	Zinc finger, B-box (2);	.	.	.	.	T	0.20618	0.0496	N	0.01242	-0.935	0.09310	N	1	B;B;B;B	0.33379	0.0;0.41;0.021;0.008	B;B;B;B	0.37091	0.001;0.241;0.009;0.015	T	0.22730	-1.0208	9	0.10636	T	0.68	.	4.2431	0.10658	0.0:0.1047:0.2088:0.6865	.	105;159;159;131	E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;TRIM6_HUMAN	V	131;105;159;38;159;159	ENSP00000278302:F131V;ENSP00000369450:F105V;ENSP00000369440:F159V;ENSP00000346916:F159V	ENSP00000278302:F131V	F	+	1	0	TRIM34;TRIM6;TRIM6-TRIM34	5581509	0.000000	0.05858	0.973000	0.42090	0.990000	0.78478	-0.640000	0.05440	0.869000	0.35703	0.533000	0.62120	TTC		0.532	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		G	5624933	T	G	5624933	3	3	399	1	0	0	0	0	1	0	0	0	16538	1725	60	5	481	5	TRIM6	11	5624933	Missense_Mutation	SNP	T	TCGA-BP-4988-01A-01D-1462-08		5624933	129381583	28	22055											
OR56A5	0	broad.mit.edu	37	11	5988973	5988973	+	IGR	SNP	A	A	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr11:5988973A>G								OR56A3 (19382 upstream) : OR52L1 (18148 downstream)																							GAAGAAGAGGATGAGGATGAA	0.483																																																0													163	158	160					11																	5988973		692	1591	2283	SO:0001628	intergenic_variant	390084																															11.37:g.5988973A>G				Missense_Mutation	SNP		37																																																																																				0	0.483									G	5988973	A	G	5988973	1	3	399	0	1	0	0	0	0	0	0	0	11138	333	12	3		3	OR56A5	11	5988973	IGR	SNP	A	TCGA-BP-4988-01A-01D-1462-08	364040	5988973	129017543	29	22056											
GLS2	27165	broad.mit.edu	37	12	56865561	56865561	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr12:56865561C>A	ENST00000311966.4	-	17	1926	c.1648G>T	c.(1648-1650)Gac>Tac	p.D550Y	MIP_ENST00000555551.1_5'Flank|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	550					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.D550Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CCTCACCTGTCCTTGGCAAAA	0.493																																																1	Substitution - Missense(1)	kidney(1)											163	157	159					12																	56865561		2203	4300	6503	SO:0001583	missense	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1648G>T	12.37:g.56865561C>A	ENSP00000310447:p.Asp550Tyr		B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483289	0.84854	.	.	ENSG00000135423	ENST00000311966	T	0.45668	0.89	4.81	4.81	0.61882	Ankyrin repeat-containing domain (4);	0.049158	0.85682	D	0.000000	T	0.72938	0.3523	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80759	-0.1239	10	0.87932	D	0	.	15.6448	0.77039	0.0:1.0:0.0:0.0	.	550	Q9UI32	GLSL_HUMAN	Y	550	ENSP00000310447:D550Y	ENSP00000310447:D550Y	D	-	1	0	GLS2	55151828	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.288000	0.78691	2.597000	0.87782	0.563000	0.77884	GAC		0.493	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		A	56865561	C	A	56865561	3	1	399	1	0	0	0	0	1	0	0	0	6466	855	30	4	168	4	GLS2	12	56865561	Missense_Mutation	SNP	C	TCGA-BP-4988-01A-01D-1462-08		56865561	76986334	30	22057											
GCN1L1	10985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120586152	120586152	+	Splice_Site	SNP	T	T	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr12:120586152T>C	ENST00000300648.6	-	37	4559		c.e37-2			NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.?(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCACTGACCCTGTGGATAGCA	0.562																																																1	Unknown(1)	kidney(1)											55	60	58					12																	120586152		2134	4234	6368	SO:0001630	splice_region_variant	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4547-2A>G	12.37:g.120586152T>C			A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Splice_Site	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.886759	0.33348	.	.	ENSG00000089154	ENST00000300648	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0421	0.71799	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCN1L1	119070535	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	7.777000	0.85628	1.971000	0.57363	0.260000	0.18958	.		0.562	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		Intron	C	120586152	T	C	120586152	5	2	399	1	0	0	0	0	0	0	1	0	6301	1594	55	3	3558	3	GCN1L1	12	120586152	Splice_Site	SNP	T	TCGA-BP-4988-01A-01D-1462-08	63720591	120586152	13265743	31	22058											
RNF219	79596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	79212988	79212988	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr13:79212988T>G	ENST00000282003.6	-	4	577	c.519A>C	c.(517-519)aaA>aaC	p.K173N		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	173							zinc ion binding (GO:0008270)	p.K173N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CATCTTTCACTTTTTCATAGA	0.313																																																1	Substitution - Missense(1)	kidney(1)											151	145	147					13																	79212988		2202	4299	6501	SO:0001583	missense	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.519A>C	13.37:g.79212988T>G	ENSP00000282003:p.Lys173Asn		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.542474	0.65198	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.71	2.02	0.26589	.	0.047601	0.85682	D	0.000000	T	0.38665	0.1049	L	0.34521	1.04	0.46927	D	0.999255	P	0.47191	0.891	B	0.40375	0.327	T	0.18304	-1.0341	9	0.72032	D	0.01	-1.617	9.1821	0.37148	0.0:0.2035:0.0:0.7965	.	173	Q5W0B1	RN219_HUMAN	N	173	.	ENSP00000282003:K173N	K	-	3	2	RNF219	78110989	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.237000	0.51344	0.127000	0.18452	-0.899000	0.02877	AAA		0.313	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		G	79212988	T	G	79212988	3	3	399	1	0	0	0	0	1	0	0	0	13488	1606	56	5	1673	5	RNF219	13	79212988	Missense_Mutation	SNP	T	TCGA-BP-4988-01A-01D-1462-08		79212988	35956890	32	22059											
ACIN1	22985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23533399	23533399	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr14:23533399G>C	ENST00000262710.1	-	12	3011	c.2684C>G	c.(2683-2685)tCt>tGt	p.S895C	ACIN1_ENST00000338631.6_Missense_Mutation_p.S168C|ACIN1_ENST00000357481.2_Missense_Mutation_p.S137C|ACIN1_ENST00000457657.1_Missense_Mutation_p.S855C|ACIN1_ENST00000557515.1_Missense_Mutation_p.S136C|ACIN1_ENST00000605057.1_Missense_Mutation_p.S837C|ACIN1_ENST00000555053.1_Missense_Mutation_p.S882C|ACIN1_ENST00000397341.3_Missense_Mutation_p.S137C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	895					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S895C(1)|p.S168C(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGAGATGCGAGAGTCATCAGC	0.562																																																2	Substitution - Missense(2)	kidney(2)											112	102	106					14																	23533399		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2684C>G	14.37:g.23533399G>C	ENSP00000262710:p.Ser895Cys		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660361	0.67586	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T;T	0.16196	3.35;3.35;3.35;2.36;2.37;3.35;3.34	5.4	5.4	0.78164	.	0.000000	0.40554	N	0.001066	T	0.33177	0.0854	L	0.36672	1.1	0.39497	D	0.96813	D;D;D;D;D	0.67145	0.996;0.994;0.994;0.993;0.991	D;D;D;P;P	0.69479	0.964;0.922;0.922;0.842;0.793	T	0.02464	-1.1155	10	0.62326	D	0.03	-7.7786	18.1114	0.89537	0.0:0.0:1.0:0.0	.	882;895;855;168;137	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	C	136;168;137;895;855;137;882;125	ENSP00000451138:S136C;ENSP00000345541:S168C;ENSP00000350073:S137C;ENSP00000262710:S895C;ENSP00000405677:S855C;ENSP00000380502:S137C;ENSP00000451328:S882C	ENSP00000262710:S895C	S	-	2	0	ACIN1	22603239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.048000	0.64238	2.814000	0.96858	0.563000	0.77884	TCT		0.562	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		C	23533399	G	C	23533399	3	2	399	1	0	0	0	0	1	0	0	0	142	942	33	4	1373	4	ACIN1	14	23533399	Missense_Mutation	SNP	G	TCGA-BP-4988-01A-01D-1462-08		23533399	83816141	33	22060											
THSD4	79875	broad.mit.edu;ucsc.edu	37	15	72039333	72039333	+	Silent	SNP	C	C	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr15:72039333C>T	ENST00000355327.3	+	13	2327	c.2193C>T	c.(2191-2193)tgC>tgT	p.C731C	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.C731C|THSD4_ENST00000357769.4_Silent_p.C371C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	731	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.C731C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCAGCACCTGCCAACTCAAGA	0.657																																																1	Substitution - coding silent(1)	kidney(1)											26	33	31					15																	72039333		2135	4236	6371	SO:0001819	synonymous_variant	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2193C>T	15.37:g.72039333C>T			B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	CCDS10238.2																																																																																				0.657	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		T	72039333	C	T	72039333	2	4	399	1	0	0	0	0	0	0	0	1	15883	747	26	2		2	THSD4	15	72039333	Silent	SNP	C	TCGA-BP-4988-01A-01D-1462-08		72039333	30492059	34	22061											
ANKS4B	257629	broad.mit.edu;ucsc.edu	37	16	21261470	21261470	+	Missense_Mutation	SNP	G	G	A	rs373521474		TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr16:21261470G>A	ENST00000311620.5	+	2	656	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	195					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)		p.G195R(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGCACATTCGGGTCACTATC	0.498																																																1	Substitution - Missense(1)	kidney(1)						G	ARG/GLY	1,3921		0,1,1960	94	96	95		583	5.8	1	16		95	1,8315		0,1,4157	no	missense	ANKS4B	NM_145865.2	125	0,2,6117	AA,AG,GG		0.012,0.0255,0.0163	probably-damaging	195/418	21261470	2,12236	1961	4158	6119	SO:0001583	missense	257629			AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.583G>A	16.37:g.21261470G>A	ENSP00000308772:p.Gly195Arg			Missense_Mutation	SNP	ENST00000311620.5	37	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388081	0.42308	2.55E-4	1.2E-4	ENSG00000175311	ENST00000311620	T	0.44482	0.92	5.77	5.77	0.91146	.	0.054082	0.64402	D	0.000001	T	0.51329	0.1668	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	P	0.54460	0.753	T	0.45086	-0.9285	10	0.20519	T	0.43	-24.2696	10.4529	0.44533	0.1485:0.0:0.8515:0.0	.	195	Q8N8V4	ANS4B_HUMAN	R	195	ENSP00000308772:G195R	ENSP00000308772:G195R	G	+	1	0	ANKS4B	21168971	1.000000	0.71417	0.992000	0.48379	0.243000	0.25628	4.037000	0.57311	2.726000	0.93360	0.591000	0.81541	GGG		0.498	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		A	21261470	G	A	21261470	3	1	399	1	0	0	0	0	1	0	0	0	691	1116	39	1	589	1	ANKS4B	16	21261470	Missense_Mutation	SNP	G	TCGA-BP-4988-01A-01D-1462-08		21261470	69093283	35	22062											
XYLT2	64132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48433278	48433278	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr17:48433278G>A	ENST00000017003.2	+	6	1274	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	XYLT2_ENST00000507602.1_Missense_Mutation_p.V409M	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	409					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.V409M(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACGCAGCTTTGTGGAGTATGT	0.602																																																1	Substitution - Missense(1)	kidney(1)											91	82	85					17																	48433278		2203	4300	6503	SO:0001583	missense	64132			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1225G>A	17.37:g.48433278G>A	ENSP00000017003:p.Val409Met		Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836723	0.71373	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.15487	2.42;2.42	4.39	4.39	0.52855	.	0.066012	0.64402	D	0.000013	T	0.38772	0.1053	M	0.70595	2.14	0.80722	D	1	P	0.46064	0.872	P	0.58077	0.832	T	0.29549	-1.0008	10	0.66056	D	0.02	-20.0872	17.2236	0.86963	0.0:0.0:1.0:0.0	.	409	Q9H1B5	XYLT2_HUMAN	M	409	ENSP00000017003:V409M;ENSP00000426501:V409M	ENSP00000017003:V409M	V	+	1	0	XYLT2	45788277	1.000000	0.71417	0.988000	0.46212	0.749000	0.42624	9.636000	0.98440	2.293000	0.77203	0.508000	0.49915	GTG		0.602	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		A	48433278	G	A	48433278	3	1	399	1	0	0	0	0	1	0	0	0	17469	1377	48	2	1247	2	XYLT2	17	48433278	Missense_Mutation	SNP	G	TCGA-BP-4988-01A-01D-1462-08		48433278	32761932	36	22063											
ITGB4	3691	broad.mit.edu;hgsc.bcm.edu	37	17	73729634	73729634	+	Silent	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr17:73729634G>A	ENST00000200181.3	+	13	1705	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E	ITGB4_ENST00000339591.3_Silent_p.E506E|ITGB4_ENST00000450894.3_Silent_p.E506E|ITGB4_ENST00000579662.1_Silent_p.E506E|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Silent_p.E506E	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	506	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.E506E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGCGGGAGGGCGAGGACA	0.637																																																1	Substitution - coding silent(1)	kidney(1)											51	44	46					17																	73729634		2203	4300	6503	SO:0001819	synonymous_variant	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1518G>A	17.37:g.73729634G>A			A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	CCDS11727.1																																																																																				0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			A	73729634	G	A	73729634	2	1	399	1	0	0	0	0	0	0	0	1	7899	991	35	2		2	ITGB4	17	73729634	Silent	SNP	G	TCGA-BP-4988-01A-01D-1462-08	25296356	73729634	7465576	37	22064											
SEC14L1	6397	broad.mit.edu	37	17	75209464	75209464	+	Silent	SNP	C	C	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr17:75209464C>T	ENST00000413679.2	+	16	2235	c.1932C>T	c.(1930-1932)tgC>tgT	p.C644C	SEC14L1_ENST00000392476.2_Silent_p.C644C|SEC14L1_ENST00000443798.4_Silent_p.C644C|SEC14L1_ENST00000585618.1_Silent_p.C644C|SEC14L1_ENST00000591437.1_Silent_p.C610C|SEC14L1_ENST00000430767.4_Silent_p.C644C|SEC14L1_ENST00000436233.4_Silent_p.C644C|SEC14L1_ENST00000431431.2_Silent_p.C610C	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	644	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.C644C(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGCCTGCGTGCGCCGCCAGCA	0.607																																																1	Substitution - coding silent(1)	kidney(1)											56	44	48					17																	75209464		2203	4300	6503	SO:0001819	synonymous_variant	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1932C>T	17.37:g.75209464C>T			A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	CCDS11752.1																																																																																				0.607	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		T	75209464	C	T	75209464	2	4	399	1	0	0	0	0	0	0	0	1	13987	776	27	1		1	SEC14L1	17	75209464	Silent	SNP	C	TCGA-BP-4988-01A-01D-1462-08	1479830	75209464	5985746	38	22065											
CTDP1	9150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	77477938	77477938	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr18:77477938A>T	ENST00000299543.7	+	10	2486	c.2339A>T	c.(2338-2340)aAg>aTg	p.K780M	CTDP1_ENST00000075430.7_Missense_Mutation_p.K780M	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	780					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.K780M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AACACGGGGAAGCTCATCAGG	0.697																																																1	Substitution - Missense(1)	kidney(1)											38	45	43					18																	77477938		2203	4298	6501	SO:0001583	missense	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2339A>T	18.37:g.77477938A>T	ENSP00000299543:p.Lys780Met		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.958663	0.53400	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.59224	0.28;0.28	5.07	5.07	0.68467	FCP1-like phosphatase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.78375	-0.2228	10	0.87932	D	0	-54.9563	14.831	0.70149	1.0:0.0:0.0:0.0	.	661;780;780	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	M	780	ENSP00000299543:K780M;ENSP00000075430:K780M	ENSP00000075430:K780M	K	+	2	0	CTDP1	75578926	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	4.425000	0.59875	1.886000	0.54624	0.460000	0.39030	AAG		0.697	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		T	77477938	A	T	77477938	3	4	399	1	0	0	0	0	1	0	0	0	4004	72	3	5	2377	5	CTDP1	18	77477938	Missense_Mutation	SNP	A	TCGA-BP-4988-01A-01D-1462-08		77477938	599310	39	22066			1	37		2	2	19	N	C_A	2.616519e-05
CTDP1	9150	broad.mit.edu	37	18	77477956	77477956	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr18:77477956C>T	ENST00000299543.7	+	10	2504	c.2357C>T	c.(2356-2358)gCc>gTc	p.A786V	CTDP1_ENST00000075430.7_Missense_Mutation_p.A786V	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	786					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.A786V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGGACGGGCGCCCGGGGGCCC	0.677																																																1	Substitution - Missense(1)	kidney(1)											33	41	38					18																	77477956		2203	4299	6502	SO:0001583	missense	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2357C>T	18.37:g.77477956C>T	ENSP00000299543:p.Ala786Val		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373923	0.24857	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.47869	0.83;0.83	5.07	4.2	0.49525	FCP1-like phosphatase, C-terminal (1);	0.545064	0.21754	N	0.069630	T	0.36496	0.0969	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17852	0.003;0.024;0.007	B;B;B	0.14023	0.004;0.01;0.01	T	0.24048	-1.0171	10	0.41790	T	0.15	-0.4073	13.0924	0.59172	0.0:0.9223:0.0:0.0777	.	667;786;786	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	V	786	ENSP00000299543:A786V;ENSP00000075430:A786V	ENSP00000075430:A786V	A	+	2	0	CTDP1	75578944	0.028000	0.19301	0.001000	0.08648	0.049000	0.14656	3.170000	0.50816	1.109000	0.41680	0.563000	0.77884	GCC		0.677	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		T	77477956	C	T	77477956	3	4	399	1	0	0	0	0	1	0	0	0	4004	739	26	2	2395	2	CTDP1	18	77477956	Missense_Mutation	SNP	C	TCGA-BP-4988-01A-01D-1462-08	18	77477956	599292	40	22067			1	37		2	2	19	N	C_A	2.616519e-05
ZNF136	7695	broad.mit.edu	37	19	12298092	12298092	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr19:12298092G>A	ENST00000343979.4	+	4	1039	c.899G>A	c.(898-900)aGa>aAa	p.R300K	ZNF136_ENST00000398616.2_Missense_Mutation_p.R234K	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	300					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R300K(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						ATACATGAAAGAACCCATACT	0.423																																																1	Substitution - Missense(1)	kidney(1)											69	68	69					19																	12298092		2203	4300	6503	SO:0001583	missense	7695			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"Zinc fingers, C2H2-type", "-"	12920	protein-coding gene	gene with protein product		604078	"zinc finger protein 136 (clone pHZ-20)"			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.899G>A	19.37:g.12298092G>A	ENSP00000344162:p.Arg300Lys			Missense_Mutation	SNP	ENST00000343979.4	37	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528057	0.64860	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.18338	2.22;2.22	1.37	-1.08	0.09936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.20483	0.58	0.25408	N	0.988385	B	0.24043	0.096	B	0.23419	0.046	T	0.39542	-0.9609	8	.	.	.	.	4.3957	0.11362	0.1474:0.0:0.634:0.2186	.	300	P52737	ZN136_HUMAN	K	300;234	ENSP00000344162:R300K;ENSP00000381617:R234K	.	R	+	2	0	ZNF136	12159092	0.000000	0.05858	0.001000	0.08648	0.961000	0.63080	-0.941000	0.03925	-0.246000	0.09611	0.650000	0.86243	AGA		0.423	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		A	12298092	G	A	12298092	3	1	399	1	0	0	0	0	1	0	0	0	17731	942	33	2	913	2	ZNF136	19	12298092	Missense_Mutation	SNP	G	TCGA-BP-4988-01A-01D-1462-08		12298092	46830891	41	22068											
ZNF44	51710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12383395	12383395	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr19:12383395G>A	ENST00000356109.5	-	5	1937	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	ZNF44_ENST00000355684.5_Missense_Mutation_p.P559S	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P559S(1)		ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CATTCATAGGGTCTTTCTCCA	0.438																																																1	Substitution - Missense(1)	kidney(1)											57	61	60					19																	12383395		2202	4300	6502	SO:0001583	missense	51710			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"Zinc fingers, C2H2-type", "-"	13110	protein-coding gene	gene with protein product		194542	"zinc finger protein 58", "zinc finger protein 44 (KOX 7)", "zinc finger protein 55"	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1819C>T	19.37:g.12383395G>A	ENSP00000348419:p.Pro607Ser		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535174	0.45176	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.28454	1.61;1.61;1.61	1.1	-0.0889	0.13671	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26304	0.0642	L	0.58510	1.815	.	.	.	B;B	0.29481	0.245;0.082	B;B	0.24269	0.052;0.016	T	0.24154	-1.0168	8	0.54805	T	0.06	.	8.1025	0.30865	0.0:0.255:0.745:0.0	.	607;559	P15621;F8W7T7	ZNF44_HUMAN;.	S	607;607;559;559	ENSP00000377008:P607S;ENSP00000348419:P607S;ENSP00000347910:P559S	ENSP00000347910:P559S	P	-	1	0	ZNF44	12244395	0.039000	0.19947	0.003000	0.11579	0.957000	0.61999	0.774000	0.26675	0.034000	0.15491	0.305000	0.20034	CCC		0.438	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		A	12383395	G	A	12383395	3	1	399	1	0	0	0	0	1	0	0	0	17917	1261	44	2	176	2	ZNF44	19	12383395	Missense_Mutation	SNP	G	TCGA-BP-4988-01A-01D-1462-08	85303	12383395	46745588	42	22069											
RYR1	6261	hgsc.bcm.edu	37	19	38990455	38990455	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr19:38990455G>A	ENST00000359596.3	+	44	7208	c.7208G>A	c.(7207-7209)cGc>cAc	p.R2403H	RYR1_ENST00000360985.3_Missense_Mutation_p.R2403H|RYR1_ENST00000355481.4_Missense_Mutation_p.R2403H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2403	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GACCGGCGGCGCGAGCAGTGA	0.701																																																0													16	19	18					19																	38990455		2197	4296	6493	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7208G>A	19.37:g.38990455G>A	ENSP00000352608:p.Arg2403His		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193677	0.38707	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97772	-4.53;-4.53;-4.53	3.74	3.74	0.42951	.	0.224065	0.27415	U	0.019480	D	0.97977	0.9334	M	0.66939	2.045	0.32531	N	0.534891	D;D	0.67145	0.986;0.996	P;P	0.62740	0.578;0.906	D	0.98897	1.0775	10	0.45353	T	0.12	.	14.5272	0.67897	0.0:0.0:1.0:0.0	.	2403;2403	P21817-2;P21817	.;RYR1_HUMAN	H	2403	ENSP00000352608:R2403H;ENSP00000347667:R2403H;ENSP00000354254:R2403H	ENSP00000347667:R2403H	R	+	2	0	RYR1	43682295	1.000000	0.71417	0.952000	0.39060	0.613000	0.37349	6.731000	0.74785	1.927000	0.55829	0.289000	0.19496	CGC		0.701	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38990455	G	A	38990455	3	1	399	1	0	0	0	0	1	0	0	0	13774	1087	38	1	7382	1	RYR1	19	38990455	Missense_Mutation	SNP	G	TCGA-BP-4988-01A-01D-1462-08	26607060	38990455	20138528	43	22070											
CBR1	873	broad.mit.edu	37	21	37444758	37444758	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chr21:37444758G>A	ENST00000290349.6	+	3	587	c.412G>A	c.(412-414)Gta>Ata	p.V138I	AP000688.14_ENST00000535199.1_RNA|SETD4_ENST00000399201.1_Intron|CBR1_ENST00000399191.3_3'UTR|CBR1_ENST00000530908.1_3'UTR	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	138					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)	p.V138I(1)		endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	AGTGGTGAACGTATCTAGCAT	0.507																																																1	Substitution - Missense(1)	kidney(1)											78	75	76					21																	37444758		2203	4300	6503	SO:0001583	missense	873				CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1548	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 1"	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.412G>A	21.37:g.37444758G>A	ENSP00000290349:p.Val138Ile		B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455410	0.26161	.	.	ENSG00000159228	ENST00000290349	D	0.87571	-2.27	5.45	4.56	0.56223	NAD(P)-binding domain (1);	0.053970	0.64402	N	0.000001	T	0.80401	0.4616	N	0.17872	0.535	0.80722	D	1	B	0.24258	0.1	B	0.24701	0.055	T	0.71820	-0.4477	10	0.35671	T	0.21	-20.2404	17.3494	0.87318	0.0667:0.0:0.9333:0.0	.	138	P16152	CBR1_HUMAN	I	138	ENSP00000290349:V138I	ENSP00000290349:V138I	V	+	1	0	CBR1	36366628	1.000000	0.71417	0.934000	0.37439	0.174000	0.22865	5.719000	0.68462	0.681000	0.31386	-1.134000	0.01955	GTA		0.507	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2			A	37444758	G	A	37444758	3	1	399	1	0	0	0	0	1	0	0	0	2710	1145	40	1	422	1	CBR1	21	37444758	Missense_Mutation	SNP	G	TCGA-BP-4988-01A-01D-1462-08		37444758	10685137	44	22071											
ZMYM3	9203	broad.mit.edu	37	X	70472956	70472956	+	Silent	SNP	A	A	G			TCGA-BP-4988-01A-01D-1462-08	TCGA-BP-4988-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	792c9867-ceea-4520-bbb7-5dabe290664f	c9ae8ce7-d59d-4ddc-a305-066ac8b6a0c2	g.chrX:70472956A>G	ENST00000353904.2	-	2	337	c.150T>C	c.(148-150)ccT>ccC	p.P50P	ZMYM3_ENST00000373988.1_Silent_p.P50P|ZMYM3_ENST00000373978.1_Silent_p.P50P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Silent_p.P50P|ZMYM3_ENST00000373982.1_Silent_p.P50P|ZMYM3_ENST00000373998.1_Silent_p.P50P|ZMYM3_ENST00000373984.3_Silent_p.P50P|ZMYM3_ENST00000314425.5_Silent_p.P50P	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	50					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P50P(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGGATGGAGAAGGGCCAGGGG	0.612											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											12	13	13					X																	70472956		2178	4247	6425	SO:0001819	synonymous_variant	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.150T>C	X.37:g.70472956A>G		1122	D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	CCDS14409.1																																																																																				0.612	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		G	70472956	A	G	70472956	2	3	399	1	0	0	0	0	0	0	0	1	17706	59	3	3		3	ZMYM3	23	70472956	Silent	SNP	A	TCGA-BP-4988-01A-01D-1462-08		70472956	84797604	45	22072											
ATP1B1	481	broad.mit.edu	37	1	169076145	169076145	+	Silent	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr1:169076145C>T	ENST00000367816.1	+	2	607	c.78C>T	c.(76-78)ggC>ggT	p.G26G	ATP1B1_ENST00000499679.3_5'Flank|RP5-1018K9.1_ENST00000415637.1_RNA|ATP1B1_ENST00000367815.4_Silent_p.G26G			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	26					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.G26G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AGTTTCTGGGCAGGACCGGTG	0.662																																																1	Substitution - coding silent(1)	kidney(1)											50	56	54					1																	169076145		2203	4300	6503	SO:0001819	synonymous_variant	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.78C>T	1.37:g.169076145C>T			Q5TGZ3	RNA	SNP	ENST00000367816.1	37	CCDS1276.1																																																																																				0.662	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			T	169076145	C	T	169076145	2	4	400	1	0	0	0	0	0	0	0	1	1132	697	25	2		2	ATP1B1	1	169076145	Silent	SNP	C	TCGA-BP-4989-01A-01D-1462-08		169076145	80174476	1	22073											
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	168101917	168101917	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:168101917A>T	ENST00000409195.1	+	9	4104	c.4015A>T	c.(4015-4017)Aaa>Taa	p.K1339*	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.K1117*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.K1339*|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1164					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.K1339*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACAGTTAAAAAAGAAGAGGT	0.383																																																1	Substitution - Nonsense(1)	kidney(1)											83	76	78					2																	168101917		1854	4103	5957	SO:0001587	stop_gained	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4015A>T	2.37:g.168101917A>T	ENSP00000386840:p.Lys1339*		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	43	10.515002	0.99419	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9402	15.7714	0.78173	1.0:0.0:0.0:0.0	.	.	.	.	X	1339;1339;1117	.	ENSP00000295237:K1339X	K	+	1	0	XIRP2	167810163	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.942000	0.92970	2.215000	0.71742	0.460000	0.39030	AAA		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168101917	A	T	168101917	4	4	400	1	0	0	0	0	0	1	0	0	17435	15	1	5	4045	5	XIRP2	2	168101917	Nonsense_Mutation	SNP	A	TCGA-BP-4989-01A-01D-1462-08		168101917	75097456	2	22074											
MYO3B	140469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	171243748	171243748	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:171243748A>G	ENST00000408978.4	+	14	1650	c.1507A>G	c.(1507-1509)Act>Gct	p.T503A	MYO3B_ENST00000334231.6_Missense_Mutation_p.T512A|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.T503A	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	503	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.T503A(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GTTTACACCAACTGGAGTTGT	0.433																																																2	Substitution - Missense(2)	kidney(2)											92	88	89					2																	171243748		1876	4126	6002	SO:0001583	missense	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1507A>G	2.37:g.171243748A>G	ENSP00000386213:p.Thr503Ala		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021821	0.35701	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.9	5.9	0.94986	Myosin head, motor domain (2);	0.044045	0.85682	D	0.000000	T	0.79353	0.4431	N	0.20401	0.57	0.54753	D	0.999989	B;B;B	0.24882	0.036;0.113;0.044	B;B;B	0.26517	0.016;0.07;0.058	T	0.74583	-0.3617	10	0.17369	T	0.5	.	16.3245	0.82970	1.0:0.0:0.0:0.0	.	503;503;503	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	A	503;503;502;512;512	ENSP00000386497:T503A;ENSP00000386213:T503A;ENSP00000446237:T512A;ENSP00000335100:T512A	ENSP00000314213:T502A	T	+	1	0	MYO3B	170951994	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	6.288000	0.72679	2.254000	0.74563	0.460000	0.39030	ACT		0.433	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			G	171243748	A	G	171243748	3	3	400	1	0	0	0	0	1	0	0	0	10079	43	2	3	1561	3	MYO3B	2	171243748	Missense_Mutation	SNP	A	TCGA-BP-4989-01A-01D-1462-08	3141831	171243748	71955625	3	22075											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179484439	179484439	+	Silent	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:179484439T>C	ENST00000591111.1	-	200	41906	c.41682A>G	c.(41680-41682)cgA>cgG	p.R13894R	TTN_ENST00000342992.6_Silent_p.R12967R|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342175.6_Silent_p.R6662R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.R15535R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.R6470R|TTN_ENST00000359218.5_Silent_p.R6595R			Q8WZ42	TITIN_HUMAN	titin	13894					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)	p.R12967R(2)|p.R6595R(1)|p.R6662R(1)|p.R6470R(1)		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)			AAATCTGTAGTCGATGTATCT	0.423																																																5	Substitution - coding silent(5)	kidney(5)											219	216	217					2																	179484439		1905	4110	6015	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41682A>G	2.37:g.179484439T>C			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179484439	T	C	179484439	2	2	400	1	0	0	0	0	0	0	0	1	16740	1654	58	3		3	TTN	2	179484439	Silent	SNP	T	TCGA-BP-4989-01A-01D-1462-08	8240691	179484439	63714934	4	22076											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179504809	179504809	+	Silent	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:179504809G>A	ENST00000591111.1	-	172	36053	c.35829C>T	c.(35827-35829)ctC>ctT	p.L11943L	TTN_ENST00000342992.6_Silent_p.L11016L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Silent_p.L4711L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.L13584L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.L4519L|TTN_ENST00000359218.5_Silent_p.L4644L			Q8WZ42	TITIN_HUMAN	titin	11943	Pro-rich.				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)	p.L11016L(2)|p.L4644L(1)|p.L4519L(1)|p.L4711L(1)		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)			CAGGTGCAGGGAGAGGTATTG	0.388																																																5	Substitution - coding silent(5)	kidney(5)											169	163	165					2																	179504809		1892	4110	6002	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35829C>T	2.37:g.179504809G>A			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	Silent	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	5.215	0.225174	0.09916	.	.	ENSG00000155657	ENST00000426232	.	.	.	5.02	-0.0462	0.13848	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35748	-0.9776	4	.	.	.	.	4.9414	0.13967	0.3151:0.2678:0.417:0.0	.	.	.	.	S	239	.	.	P	-	1	0	TTN	179213054	0.997000	0.39634	0.996000	0.52242	0.641000	0.38312	0.175000	0.16762	-0.005000	0.14395	0.454000	0.30748	CCC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179504809	G	A	179504809	2	1	400	1	0	0	0	0	0	0	0	1	16740	1161	41	2		2	TTN	2	179504809	Silent	SNP	G	TCGA-BP-4989-01A-01D-1462-08	20370	179504809	63694564	5	22077											
FN1	2335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	216262451	216262451	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:216262451T>C	ENST00000359671.1	-	22	3734	c.3469A>G	c.(3469-3471)Aga>Gga	p.R1157G	FN1_ENST00000345488.5_Missense_Mutation_p.R1157G|FN1_ENST00000357867.4_Missense_Mutation_p.R1157G|FN1_ENST00000336916.4_Missense_Mutation_p.R1157G|FN1_ENST00000346544.3_Missense_Mutation_p.R1157G|FN1_ENST00000357009.2_Missense_Mutation_p.R1157G|FN1_ENST00000446046.1_Missense_Mutation_p.R1157G|FN1_ENST00000421182.1_Missense_Mutation_p.R1157G|FN1_ENST00000356005.4_Missense_Mutation_p.R1157G|FN1_ENST00000443816.1_Missense_Mutation_p.R1157G|FN1_ENST00000354785.4_Missense_Mutation_p.R1157G|FN1_ENST00000323926.6_Missense_Mutation_p.R1157G|FN1_ENST00000432072.2_Missense_Mutation_p.R1157G			P02751	FINC_HUMAN	fibronectin 1	1157	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.R1157G(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGTCCATCTCTCAGGACTTGG	0.438																																																2	Substitution - Missense(2)	kidney(2)											181	165	171					2																	216262451		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3469A>G	2.37:g.216262451T>C	ENSP00000352696:p.Arg1157Gly		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	T	10.61	1.398398	0.25205	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.78	3.21	0.36854	.	0.312835	0.30473	N	0.009550	T	0.41419	0.1158	N	0.08118	0	0.23889	N	0.996558	P;B;P;B;P;B;P;B;B;P	0.48911	0.917;0.125;0.756;0.101;0.786;0.209;0.772;0.119;0.202;0.523	P;B;P;B;P;B;P;B;B;B	0.52217	0.693;0.133;0.583;0.131;0.602;0.236;0.464;0.185;0.185;0.273	T	0.33828	-0.9853	10	0.25751	T	0.34	.	13.3425	0.60553	0.0:0.0:0.2442:0.7558	.	1157;1157;1157;1157;1157;1157;1157;1157;1157;1157	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	G	1157	ENSP00000394423:R1157G;ENSP00000323534:R1157G;ENSP00000338200:R1157G;ENSP00000350534:R1157G;ENSP00000346839:R1157G;ENSP00000352696:R1157G;ENSP00000265312:R1157G;ENSP00000273049:R1157G;ENSP00000349509:R1157G;ENSP00000410422:R1157G;ENSP00000415018:R1157G;ENSP00000399538:R1157G;ENSP00000348285:R1157G	ENSP00000265313:R1157G	R	-	1	2	FN1	215970696	0.683000	0.27633	0.783000	0.31826	0.437000	0.31866	1.984000	0.40658	1.086000	0.41228	0.482000	0.46254	AGA		0.438	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		C	216262451	T	C	216262451	3	2	400	1	0	0	0	0	1	0	0	0	5964	1559	54	3	4064	3	FN1	2	216262451	Missense_Mutation	SNP	T	TCGA-BP-4989-01A-01D-1462-08	36757642	216262451	26936922	6	22078											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188202	10188202	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:10188202delC	ENST00000256474.2	+	2	1185	c.345delC	c.(343-345)cacfs	p.H115fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	115	Involved in binding to CCT complex.		H -> Q (in VHLD; type II). {ECO:0000269|PubMed:9829912}.|H -> R (in VHLD; type II; dbSNP:rs5030812).|H -> Y (in VHLD; type I; dbSNP:rs5030811). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(3)|p.H115fs*41(1)|p.L116fs*16(1)|p.H115fs*42(1)|p.H115fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGATAGGTCACCTTTGGCTCT	0.527		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Unknown(3)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	kidney(7)	GRCh37	CI994275|CM023998|CM951285	VHL	I|M							172	159	163					3																	10188202		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.345delC	3.37:g.10188202delC	ENSP00000256474:p.His115fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188202	C	-	10188202	7	5	400	1	0	1	0	1	0	0	0	0	17167	506	18	0	351	0	VHL	3	10188202	Frame_Shift_Del	DEL	C	TCGA-BP-4989-01A-01D-1462-08		10188202	187834228	7	22079											
LRRC3B	116135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	26751684	26751684	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:26751684C>A	ENST00000396641.2	+	2	1113	c.521C>A	c.(520-522)aCg>aAg	p.T174K	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.T174K|LRRC3B_ENST00000417744.1_Missense_Mutation_p.T174K	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	174	LRRCT.					integral component of membrane (GO:0016021)		p.T174K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						ATCTGTAAAACGTCCGTGTTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											74	61	65					3																	26751684		2203	4300	6503	SO:0001583	missense	116135			AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.521C>A	3.37:g.26751684C>A	ENSP00000379880:p.Thr174Lys		Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359670	0.61403	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	D;D;D	0.90261	-2.64;-2.64;-2.64	6.17	6.17	0.99709	.	0.042026	0.85682	D	0.000000	D	0.93242	0.7847	L	0.46819	1.47	0.58432	D	0.999992	D	0.67145	0.996	P	0.61132	0.884	D	0.92681	0.6158	10	0.56958	D	0.05	-17.1217	19.8676	0.96824	0.0:1.0:0.0:0.0	.	174	Q96PB8	LRC3B_HUMAN	K	174	ENSP00000379880:T174K;ENSP00000406370:T174K;ENSP00000394940:T174K	ENSP00000379880:T174K	T	+	2	0	LRRC3B	26726688	1.000000	0.71417	0.973000	0.42090	0.716000	0.41182	6.334000	0.72944	2.941000	0.99782	0.655000	0.94253	ACG		0.498	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		A	26751684	C	A	26751684	3	1	400	1	0	0	0	0	1	0	0	0	8998	536	19	4	523	4	LRRC3B	3	26751684	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08	16563482	26751684	171270746	8	22080											
PLXNB1	5364	broad.mit.edu;hgsc.bcm.edu	37	3	48461035	48461035	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:48461035A>G	ENST00000358536.4	-	11	2929	c.2660T>C	c.(2659-2661)cTc>cCc	p.L887P	PLXNB1_ENST00000358459.4_Missense_Mutation_p.L704P|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L704P|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L887P|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	887					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.L887P(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGGACGGGAGGATGAGGGG	0.667																																																1	Substitution - Missense(1)	kidney(1)											19	24	22					3																	48461035		2173	4251	6424	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2660T>C	3.37:g.48461035A>G	ENSP00000351338:p.Leu887Pro		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329483	0.41197	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03607	3.87;3.91;3.87;3.91	4.8	4.8	0.61643	.	0.208570	0.32703	N	0.005746	T	0.05181	0.0138	N	0.08118	0	0.80722	D	1	B;D	0.59767	0.067;0.986	B;P	0.56865	0.031;0.808	T	0.54227	-0.8325	10	0.66056	D	0.02	.	12.0888	0.53713	1.0:0.0:0.0:0.0	.	887;704	O43157;O43157-2	PLXB1_HUMAN;.	P	887;704;887;704	ENSP00000296440:L887P;ENSP00000351242:L704P;ENSP00000351338:L887P;ENSP00000414199:L704P	ENSP00000296440:L887P	L	-	2	0	PLXNB1	48436039	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.322000	0.43814	1.781000	0.52344	0.379000	0.24179	CTC		0.667	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		G	48461035	A	G	48461035	3	3	400	1	0	0	0	0	1	0	0	0	12125	304	11	3	3859	3	PLXNB1	3	48461035	Missense_Mutation	SNP	A	TCGA-BP-4989-01A-01D-1462-08	21709351	48461035	149561395	9	22081											
PBRM1	55193	hgsc.bcm.edu	37	3	52610639	52610640	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:52610639_52610640delCT	ENST00000296302.7	-	22	3609_3610	c.3608_3609delAG	c.(3607-3609)gagfs	p.E1203fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.E1171fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E1218fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E1203fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E1218fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E1178fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E1178fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E1203fs|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1203	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGGGCTCATGCTCTGTTTCTTC	0.381			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3608_3609delAG	3.37:g.52610641_52610642delCT	ENSP00000296302:p.Glu1203fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.381	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52610640	CT	-	52610639	7	5	400	1	0	1	0	1	0	0	0	0	11493	796	28	0	1327	0	PBRM1	3	52610639	Frame_Shift_Del	DEL	CT	TCGA-BP-4989-01A-01D-1462-08	4149604	52610639	145411791	10	22082											
ROBO1	6091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	78706388	78706388	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:78706388T>C	ENST00000464233.1	-	18	2587	c.2474A>G	c.(2473-2475)cAc>cGc	p.H825R	ROBO1_ENST00000436010.2_Missense_Mutation_p.H786R|ROBO1_ENST00000467549.1_Missense_Mutation_p.H789R|ROBO1_ENST00000495273.1_Missense_Mutation_p.H789R	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	825	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.H802R(1)|p.H825R(1)|p.H789R(1)|p.H829R(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTTGTTGATGTGGTATCGAGT	0.453																																																4	Substitution - Missense(4)	kidney(4)											76	75	75					3																	78706388		1951	4168	6119	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2474A>G	3.37:g.78706388T>C	ENSP00000420321:p.His825Arg		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436513	0.62955	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.04	6.04	0.98038	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.087524	0.85682	D	0.000000	T	0.64940	0.2644	L	0.53617	1.68	0.80722	D	1	D;D;D;D;P	0.89917	0.989;0.998;1.0;0.996;0.938	D;D;D;D;P	0.91635	0.985;0.992;0.999;0.978;0.614	T	0.62685	-0.6802	9	.	.	.	.	16.6244	0.84952	0.0:0.0:0.0:1.0	.	789;825;789;789;786	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	R	786;789;825;789;789;829	ENSP00000406043:H786R;ENSP00000420321:H825R;ENSP00000420637:H789R;ENSP00000417992:H789R	.	H	-	2	0	ROBO1	78789078	1.000000	0.71417	0.996000	0.52242	0.274000	0.26718	8.040000	0.89188	2.323000	0.78572	0.529000	0.55759	CAC		0.453	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		C	78706388	T	C	78706388	3	2	400	1	0	0	0	0	1	0	0	0	13519	1696	59	3	2537	3	ROBO1	3	78706388	Missense_Mutation	SNP	T	TCGA-BP-4989-01A-01D-1462-08	26095749	78706388	119316042	11	22083	167	2									
ROBO1	6091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	78706390	78706390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:78706390G>T	ENST00000464233.1	-	18	2585	c.2472C>A	c.(2470-2472)taC>taA	p.Y824*	ROBO1_ENST00000436010.2_Nonsense_Mutation_p.Y785*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Y788*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Y788*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	824	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.Y824*(1)|p.Y828*(1)|p.Y801*(1)|p.Y788*(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTTGATGTGGTATCGAGTTT	0.453																																																4	Substitution - Nonsense(4)	kidney(4)											75	74	74					3																	78706390		1954	4169	6123	SO:0001587	stop_gained	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2472C>A	3.37:g.78706390G>T	ENSP00000420321:p.Tyr824*		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	38	7.197875	0.98129	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.	.	.	6.04	3.28	0.37604	.	0.109062	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5048	0.33181	0.3601:0.0:0.6399:0.0	.	.	.	.	X	785;788;824;788;788;828	.	.	Y	-	3	2	ROBO1	78789080	1.000000	0.71417	0.993000	0.49108	0.352000	0.29268	1.120000	0.31271	0.439000	0.26476	0.650000	0.86243	TAC		0.453	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		T	78706390	G	T	78706390	4	4	400	1	0	0	0	0	0	1	0	0	13519	1256	44	4	2539	4	ROBO1	3	78706390	Nonsense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	2	78706390	119316040	12	22084	167	2									
WDR5B	54554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122134164	122134164	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:122134164T>C	ENST00000330689.4	-	1	718	c.212A>G	c.(211-213)tAt>tGt	p.Y71C	RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	71								p.Y71C(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTTTCCATCATATGCTCCCCA	0.413																																																1	Substitution - Missense(1)	kidney(1)											144	146	145					3																	122134164		2203	4300	6503	SO:0001583	missense	54554			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.212A>G	3.37:g.122134164T>C	ENSP00000330381:p.Tyr71Cys		B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.567440	0.28003	.	.	ENSG00000196981	ENST00000330689	T	0.81247	-1.47	4.64	2.28	0.28536	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.111354	0.64402	N	0.000006	T	0.66954	0.2842	N	0.25380	0.74	0.80722	D	1	B	0.13145	0.007	B	0.16289	0.015	T	0.59456	-0.7451	10	0.54805	T	0.06	.	8.3014	0.32017	0.0:0.1324:0.0:0.8676	.	71	Q86VZ2	WDR5B_HUMAN	C	71	ENSP00000330381:Y71C	ENSP00000330381:Y71C	Y	-	2	0	WDR5B	123616854	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	2.750000	0.47500	0.395000	0.25257	0.379000	0.24179	TAT		0.413	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		C	122134164	T	C	122134164	3	2	400	1	0	0	0	0	1	0	0	0	17314	1406	49	3	784	3	WDR5B	3	122134164	Missense_Mutation	SNP	T	TCGA-BP-4989-01A-01D-1462-08	43427774	122134164	75888266	13	22085											
DHX36	170506	hgsc.bcm.edu;ucsc.edu	37	3	153994678	153994678	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:153994678T>C	ENST00000496811.1	-	24	2779	c.2699A>G	c.(2698-2700)tAt>tGt	p.Y900C	DHX36_ENST00000544526.1_Missense_Mutation_p.Y886C|DHX36_ENST00000308361.6_Missense_Mutation_p.Y871C|DHX36_ENST00000329463.5_Missense_Mutation_p.Y886C	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	900					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.Y900C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGTGCAGTCATACAAGTATAT	0.328																																																1	Substitution - Missense(1)	kidney(1)											67	69	68					3																	153994678		2203	4300	6503	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2699A>G	3.37:g.153994678T>C	ENSP00000417078:p.Tyr900Cys		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207756	0.79240	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;T;T	0.03358	4.13;4.07;3.96;3.96	5.88	5.88	0.94601	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.976;0.973;0.99	T	0.00161	-1.1972	10	0.46703	T	0.11	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	886;871;900	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	C	900;871;886;886	ENSP00000417078:Y900C;ENSP00000309296:Y871C;ENSP00000444247:Y886C;ENSP00000330113:Y886C	ENSP00000309296:Y871C	Y	-	2	0	DHX36	155477372	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.587000	0.82613	2.243000	0.73865	0.533000	0.62120	TAT		0.328	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		C	153994678	T	C	153994678	3	2	400	1	0	0	0	0	1	0	0	0	4511	1406	49	3	335	3	DHX36	3	153994678	Missense_Mutation	SNP	T	TCGA-BP-4989-01A-01D-1462-08	31860514	153994678	44027752	14	22086											
DGKG	1608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	185882703	185882703	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:185882703C>T	ENST00000265022.3	-	23	2739	c.2200G>A	c.(2200-2202)Gcc>Acc	p.A734T	DGKG_ENST00000344484.4_Missense_Mutation_p.A709T|DGKG_ENST00000382164.4_Missense_Mutation_p.A695T|DGKG_ENST00000544847.1_Missense_Mutation_p.A675T|DGKG_ENST00000447054.1_5'UTR	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	734					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.A734T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTGACAGAGGCGCACTGGGCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											117	97	104					3																	185882703		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.2200G>A	3.37:g.185882703C>T	ENSP00000265022:p.Ala734Thr		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	c	14.23	2.474392	0.43942	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.46	1.42	0.22433	Diacylglycerol kinase, accessory domain (2);	0.246207	0.41823	N	0.000814	T	0.21962	0.0529	N	0.12746	0.255	0.28612	N	0.908625	B;B;B;B	0.22414	0.004;0.012;0.008;0.069	B;B;B;B	0.17098	0.006;0.01;0.003;0.017	T	0.15925	-1.0420	10	0.87932	D	0	.	7.4415	0.27185	0.6299:0.1271:0.0:0.2431	.	675;709;695;734	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	T	734;709;695;675	ENSP00000265022:A734T;ENSP00000339777:A709T;ENSP00000371599:A695T;ENSP00000440507:A675T	ENSP00000265022:A734T	A	-	1	0	DGKG	187365397	0.990000	0.36364	0.998000	0.56505	0.975000	0.68041	1.006000	0.29847	0.434000	0.26340	-0.259000	0.10710	GCC		0.577	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			T	185882703	C	T	185882703	3	4	400	1	0	0	0	0	1	0	0	0	4471	768	27	1	187	1	DGKG	3	185882703	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08	31888025	185882703	12139727	15	22087											
FAM193A	8603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2674032	2674032	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr4:2674032T>C	ENST00000324666.5	+	11	1742	c.1391T>C	c.(1390-1392)gTt>gCt	p.V464A	FAM193A_ENST00000502458.1_Missense_Mutation_p.V486A|FAM193A_ENST00000545951.1_Missense_Mutation_p.V464A|FAM193A_ENST00000505311.1_Missense_Mutation_p.V464A|FAM193A_ENST00000382839.3_Missense_Mutation_p.V464A	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	464								p.V464A(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTGCACACTGTTCCACACCTG	0.562																																																1	Substitution - Missense(1)	kidney(1)											150	103	119					4																	2674032		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1391T>C	4.37:g.2674032T>C	ENSP00000324587:p.Val464Ala		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030669	0.75504	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.36878	1.24;1.66;1.23;1.24;1.24	4.82	4.82	0.62117	.	0.291939	0.31358	N	0.007791	T	0.29061	0.0722	L	0.29908	0.895	0.32063	N	0.595484	B;P;P;B;B	0.39181	0.341;0.604;0.663;0.218;0.218	B;B;B;B;B	0.37943	0.12;0.258;0.261;0.088;0.088	T	0.43988	-0.9357	10	0.59425	D	0.04	-17.0978	13.8593	0.63550	0.0:0.0:0.0:1.0	.	464;486;464;486;464	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	A	464;464;464;486;318	ENSP00000372290:V464A;ENSP00000324587:V464A;ENSP00000443617:V464A;ENSP00000427505:V486A;ENSP00000427260:V318A	ENSP00000324587:V464A	V	+	2	0	FAM193A	2643830	1.000000	0.71417	0.875000	0.34327	0.927000	0.56198	5.624000	0.67764	1.920000	0.55613	0.528000	0.53228	GTT		0.562	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		C	2674032	T	C	2674032	3	2	400	1	0	0	0	0	1	0	0	0	5526	1725	60	3	1425	3	FAM193A	4	2674032	Missense_Mutation	SNP	T	TCGA-BP-4989-01A-01D-1462-08		2674032	188480244	16	22088											
GPR78	27201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8584304	8584304	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr4:8584304G>A	ENST00000382487.4	+	2	1132	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	239					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A239P(1)|p.A239T(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCGCCACCGCGCCACCAGGAA	0.622																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											129	108	115					4																	8584304		2203	4300	6503	SO:0001583	missense	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.715G>A	4.37:g.8584304G>A	ENSP00000371927:p.Ala239Thr		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882525	0.72294	.	.	ENSG00000155269	ENST00000382487	T	0.38077	1.16	2.33	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000002	T	0.51432	0.1674	L	0.56199	1.76	0.47407	D	0.999418	D	0.89917	1.0	D	0.79784	0.993	T	0.55108	-0.8192	10	0.87932	D	0	.	11.6225	0.51126	0.0:0.0:1.0:0.0	.	239	Q96P69	GPR78_HUMAN	T	239	ENSP00000371927:A239T	ENSP00000371927:A239T	A	+	1	0	GPR78	8635204	1.000000	0.71417	0.002000	0.10522	0.006000	0.05464	7.291000	0.78721	1.118000	0.41863	0.563000	0.77884	GCC		0.622	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			A	8584304	G	A	8584304	3	1	400	1	0	0	0	0	1	0	0	0	6712	1087	38	1	721	1	GPR78	4	8584304	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	5910272	8584304	182569972	17	22089											
SEC24B	10427	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	110402835	110402835	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr4:110402835G>A	ENST00000265175.5	+	4	1118	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	SEC24B_ENST00000504968.2_Missense_Mutation_p.V386M|SEC24B_ENST00000399100.2_Intron	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	355					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.V355M(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTTTACAGGCGTGCAGTATGG	0.413																																																1	Substitution - Missense(1)	kidney(1)											200	188	192					4																	110402835		1931	4155	6086	SO:0001583	missense	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1063G>A	4.37:g.110402835G>A	ENSP00000265175:p.Val355Met		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	1.665	-0.510370	0.04231	.	.	ENSG00000138802	ENST00000504968;ENST00000265175	T;T	0.77620	-0.96;-1.11	5.56	3.07	0.35406	.	0.688387	0.14930	N	0.290132	T	0.49983	0.1589	N	0.01576	-0.805	0.22280	N	0.999236	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.002	T	0.36383	-0.9750	10	0.23302	T	0.38	-8.8589	10.3278	0.43805	0.8649:0.0:0.1351:0.0	.	386;355	B7ZKM8;O95487	.;SC24B_HUMAN	M	386;355	ENSP00000428564:V386M;ENSP00000265175:V355M	ENSP00000265175:V355M	V	+	1	0	SEC24B	110622284	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.609000	0.54117	0.373000	0.24621	-0.295000	0.09555	GTG		0.413	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			A	110402835	G	A	110402835	3	1	400	1	0	0	0	0	1	0	0	0	14001	1145	40	1	1077	1	SEC24B	4	110402835	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	101818531	110402835	80751441	18	22090											
PCDH10	57575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	134072133	134072133	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr4:134072133G>A	ENST00000264360.5	+	1	1664	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	280	Cadherin 3. {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)	p.G280S(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCGGACGAGGGCCAGAACGG	0.632																																																1	Substitution - Missense(1)	kidney(1)											72	71	71					4																	134072133		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.838G>A	4.37:g.134072133G>A	ENSP00000264360:p.Gly280Ser		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793191	0.50102	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.49139	0.79	4.33	3.48	0.39840	Cadherin (4);Cadherin-like (1);	0.150615	0.31010	N	0.008435	T	0.73666	0.3616	M	0.92169	3.28	0.58432	D	0.999999	D;D	0.89917	0.996;1.0	D;D	0.87578	0.953;0.998	T	0.79701	-0.1693	10	0.87932	D	0	.	12.2677	0.54686	0.0843:0.0:0.9157:0.0	.	280;280	Q9P2E7;Q96SF0	PCD10_HUMAN;.	S	280	ENSP00000264360:G280S	ENSP00000264360:G280S	G	+	1	0	PCDH10	134291583	1.000000	0.71417	0.990000	0.47175	0.214000	0.24535	9.588000	0.98232	1.001000	0.39076	0.511000	0.50034	GGC		0.632	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		A	134072133	G	A	134072133	3	1	400	1	0	0	0	0	1	0	0	0	11509	1232	43	2	840	2	PCDH10	4	134072133	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	23669298	134072133	57082143	19	22091											
ODZ3	55714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	183714119	183714119	+	Silent	SNP	C	C	G	rs369904663		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr4:183714119C>G	ENST00000511685.1	+	26	6417	c.6294C>G	c.(6292-6294)ctC>ctG	p.L2098L	TENM3_ENST00000406950.2_Silent_p.L2098L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2098					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L2098L(1)									TCAGGTCGCTCATGTACTGGA	0.393																																																1	Substitution - coding silent(1)	kidney(1)											49	46	47					4																	183714119		1888	4106	5994	SO:0001819	synonymous_variant	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6294C>G	4.37:g.183714119C>G			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																				0.393	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			G	183714119	C	G	183714119	2	3	400	1	0	0	0	0	0	0	0	1	10838	813	29	4		4	ODZ3	4	183714119	Silent	SNP	C	TCGA-BP-4989-01A-01D-1462-08	49641986	183714119	7440157	20	22092											
EDIL3	10085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	83356228	83356228	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:83356228G>A	ENST00000296591.5	-	9	1446	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.T333M	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	343	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.T343M(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CATGTTGAGCGTTCTGAAGAT	0.483																																																1	Substitution - Missense(1)	kidney(1)											146	131	136					5																	83356228		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1028C>T	5.37:g.83356228G>A	ENSP00000296591:p.Thr343Met		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216198	0.79352	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98264	-4.83;-4.83	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.998	P;D;D	0.87578	0.715;0.998;0.962	D	0.99814	1.1043	10	0.87932	D	0	-23.5323	20.422	0.99049	0.0:0.0:1.0:0.0	.	120;333;343	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	M	343;333	ENSP00000296591:T343M;ENSP00000369483:T333M	ENSP00000296591:T343M	T	-	2	0	EDIL3	83391984	1.000000	0.71417	0.961000	0.40146	0.547000	0.35210	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	ACG		0.483	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		A	83356228	G	A	83356228	3	1	400	1	0	0	0	0	1	0	0	0	4917	1145	40	1	426	1	EDIL3	5	83356228	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08		83356228	97559032	21	22093											
PCDHA3	56145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140182765	140182765	+	Silent	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:140182765C>A	ENST00000522353.2	+	1	1983	c.1983C>A	c.(1981-1983)gcC>gcA	p.A661A	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.A661A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	661	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A661A(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGACCGCCACGGCCACTG	0.697																																																2	Substitution - coding silent(2)	kidney(2)											56	58	57					5																	140182765		2203	4300	6503	SO:0001819	synonymous_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1983C>A	5.37:g.140182765C>A			O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																				0.697	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		A	140182765	C	A	140182765	2	1	400	1	0	0	0	0	0	0	0	1	11527	581	21	4		4	PCDHA3	5	140182765	Silent	SNP	C	TCGA-BP-4989-01A-01D-1462-08	56826537	140182765	40732495	22	22094											
PCDHA7	56141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140216218	140216218	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:140216218C>A	ENST00000525929.1	+	1	2250	c.2250C>A	c.(2248-2250)ttC>ttA	p.F750L	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.F750L|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	750					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F750L(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTCATTCTCCCAGCAGA	0.632																																					NSCLC(160;258 2013 5070 22440 28951)											2	Substitution - Missense(2)	kidney(2)											54	53	53					5																	140216218		2203	4300	6503	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2250C>A	5.37:g.140216218C>A	ENSP00000436426:p.Phe750Leu		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120603	0.20877	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.11277	2.79;2.79	3.67	0.665	0.17896	.	0.847430	0.09233	U	0.830258	T	0.06508	0.0167	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38607	-0.9653	10	0.46703	T	0.11	.	6.9411	0.24492	0.0:0.5621:0.2883:0.1496	.	750;750	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	L	750	ENSP00000436426:F750L;ENSP00000367365:F750L	ENSP00000367365:F750L	F	+	3	2	PCDHA7	140196402	0.028000	0.19301	0.154000	0.22540	0.359000	0.29487	0.274000	0.18680	0.287000	0.22375	0.462000	0.41574	TTC		0.632	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		A	140216218	C	A	140216218	3	1	400	1	0	0	0	0	1	0	0	0	11531	912	32	4	2252	4	PCDHA7	5	140216218	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08	33453	140216218	40699042	23	22095											
MFAP3	4238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	153432673	153432673	+	Silent	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:153432673C>T	ENST00000436816.1	+	3	708	c.489C>T	c.(487-489)ctC>ctT	p.L163L	MFAP3_ENST00000322602.5_Silent_p.L163L|MFAP3_ENST00000439768.2_Silent_p.L17L	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	163					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L163L(1)		breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CAATCACACTCATCTTGAATG	0.458																																																1	Substitution - coding silent(1)	kidney(1)											129	107	114					5																	153432673		2203	4300	6503	SO:0001819	synonymous_variant	4238				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"Immunoglobulin superfamily / I-set domain containing"	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.489C>T	5.37:g.153432673C>T			B2RDK0|B4DKA1|Q9NXA7	Silent	SNP	ENST00000436816.1	37	CCDS4324.1																																																																																				0.458	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		T	153432673	C	T	153432673	2	4	400	1	0	0	0	0	0	0	0	1	9517	813	29	2		2	MFAP3	5	153432673	Silent	SNP	C	TCGA-BP-4989-01A-01D-1462-08	13216455	153432673	27482587	24	22096											
SLIT3	6586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	168114104	168114104	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:168114104C>T	ENST00000519560.1	-	30	3613	c.3194G>A	c.(3193-3195)gGc>gAc	p.G1065D	SLIT3_ENST00000404867.3_Missense_Mutation_p.G1065D|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1072D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1065	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G1065D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCGCTGTAGCCAGGGACACA	0.602																																					Ovarian(29;311 847 10864 17279 24903)											1	Substitution - Missense(1)	kidney(1)											60	55	57					5																	168114104		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3194G>A	5.37:g.168114104C>T	ENSP00000430333:p.Gly1065Asp		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655897	0.88056	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.98192	-4.78;-4.78;-4.78	4.45	4.45	0.53987	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.047315	0.85682	D	0.000000	D	0.99158	0.9709	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99229	1.0881	10	0.87932	D	0	.	16.4627	0.84069	0.0:1.0:0.0:0.0	.	1065	O75094	SLIT3_HUMAN	D	1065;1072;1065	ENSP00000430333:G1065D;ENSP00000332164:G1072D;ENSP00000384890:G1065D	ENSP00000332164:G1072D	G	-	2	0	SLIT3	168046682	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.794000	0.85869	2.181000	0.69327	0.462000	0.41574	GGC		0.602	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168114104	C	T	168114104	3	4	400	1	0	0	0	0	1	0	0	0	14747	739	26	2	1405	2	SLIT3	5	168114104	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08	14681431	168114104	12801156	25	22097											
FLT4	2324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180056415	180056415	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:180056415T>G	ENST00000261937.6	-	7	907	c.829A>C	c.(829-831)Aag>Cag	p.K277Q	FLT4_ENST00000393347.3_Missense_Mutation_p.K277Q|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.K277Q	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	277	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.K277Q(2)|p.K87Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCACCCACTTACCCCGCTCT	0.677																																					Colon(97;1075 1466 27033 27547 35871)											3	Substitution - Missense(3)	kidney(3)											102	92	96					5																	180056415		2201	4298	6499	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.829A>C	5.37:g.180056415T>G	ENSP00000261937:p.Lys277Gln		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.523616	0.27299	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.26957	1.7;1.7;1.7	4.74	3.49	0.39957	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.16642	0.0400	L	0.34521	1.04	0.09310	N	1	B;B;B	0.20887	0.049;0.004;0.004	B;B;B	0.20384	0.029;0.016;0.016	T	0.13656	-1.0501	9	0.27082	T	0.32	.	4.1276	0.10134	0.0:0.138:0.2077:0.6542	.	277;277;277	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	Q	277;277;277;87	ENSP00000261937:K277Q;ENSP00000377016:K277Q;ENSP00000426057:K277Q	ENSP00000261937:K277Q	K	-	1	0	FLT4	179989021	0.009000	0.17119	0.996000	0.52242	0.978000	0.69477	0.650000	0.24858	1.910000	0.55303	0.459000	0.35465	AAG		0.677	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			G	180056415	T	G	180056415	3	3	400	1	0	0	0	0	1	0	0	0	5946	1763	61	5	3366	5	FLT4	5	180056415	Missense_Mutation	SNP	T	TCGA-BP-4989-01A-01D-1462-08	11942311	180056415	858845	26	22098											
KIF13A	63971	broad.mit.edu;ucsc.edu	37	6	17898399	17898399	+	Splice_Site	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:17898399C>T	ENST00000259711.6	-	3	264	c.159G>A	c.(157-159)aaG>aaA	p.K53K	KIF13A_ENST00000378816.5_Intron|KIF13A_ENST00000378843.2_Splice_Site_p.K53K|KIF13A_ENST00000378826.2_Splice_Site_p.K53K|KIF13A_ENST00000378814.5_Splice_Site_p.K53K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	53	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K53K(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TAGTGCTTACCTTGGGAGGTT	0.403																																																1	Substitution - coding silent(1)	kidney(1)											97	94	95					6																	17898399		1846	4093	5939	SO:0001630	splice_region_variant	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.159+1G>A	6.37:g.17898399C>T			A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	CCDS47381.1																																																																																				0.403	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		Silent	T	17898399	C	T	17898399	5	4	400	1	0	0	0	0	0	0	1	0	8276	695	24	2	5431	2	KIF13A	6	17898399	Splice_Site	SNP	C	TCGA-BP-4989-01A-01D-1462-08		17898399	153216668	27	22099											
FAM135A	57579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	71186969	71186969	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:71186969T>G	ENST00000418814.2	+	8	1090	c.476T>G	c.(475-477)tTc>tGc	p.F159C	FAM135A_ENST00000505769.1_Missense_Mutation_p.F159C|FAM135A_ENST00000361499.3_Missense_Mutation_p.F159C|FAM135A_ENST00000457062.2_Missense_Mutation_p.F116C|FAM135A_ENST00000505868.1_Missense_Mutation_p.F159C|FAM135A_ENST00000370479.3_Missense_Mutation_p.F116C	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	159								p.F116C(1)|p.F159C(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTTGATTACTTCCACCTTTCT	0.378																																																2	Substitution - Missense(2)	kidney(2)											185	163	171					6																	71186969		2203	4300	6503	SO:0001583	missense	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.476T>G	6.37:g.71186969T>G	ENSP00000410768:p.Phe159Cys		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351902	0.82132	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.29917	1.77;1.92;1.55;1.92;1.9;1.76	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	M	0.70275	2.135	0.49299	D	0.999774	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.52866	-0.8518	10	0.72032	D	0.01	.	15.7056	0.77577	0.0:0.0:0.0:1.0	.	159;159;159;116	D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	C	159;116;159;159;116;159;159	ENSP00000410768:F159C;ENSP00000359510:F116C;ENSP00000423785:F159C;ENSP00000409201:F116C;ENSP00000354913:F159C;ENSP00000423307:F159C	ENSP00000354913:F159C	F	+	2	0	FAM135A	71243690	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.015000	0.88690	2.120000	0.65058	0.377000	0.23210	TTC		0.378	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		G	71186969	T	G	71186969	3	3	400	1	0	0	0	0	1	0	0	0	5450	1783	62	5	494	5	FAM135A	6	71186969	Missense_Mutation	SNP	T	TCGA-BP-4989-01A-01D-1462-08	53288570	71186969	99928098	28	22100											
GABRR1	2569	hgsc.bcm.edu	37	6	89888680	89888680	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:89888680C>G	ENST00000454853.2	-	10	1359	c.1249G>C	c.(1249-1251)Gga>Cga	p.G417R	GABRR1_ENST00000435811.1_Missense_Mutation_p.G400R|GABRR1_ENST00000369451.3_Missense_Mutation_p.G330R	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	417					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G411R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GGCTTCTCTCCATTCTCTGGC	0.567																																																1	Substitution - Missense(1)	kidney(1)											176	157	163					6																	89888680		2203	4300	6503	SO:0001583	missense	2569				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1249G>C	6.37:g.89888680C>G	ENSP00000412673:p.Gly417Arg		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984996	0.53934	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.84589	-1.87;-1.87;-1.87	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.047742	0.85682	D	0.000000	D	0.83427	0.5252	L	0.38175	1.15	0.80722	D	1	P;P	0.50443	0.935;0.91	P;P	0.54431	0.565;0.752	T	0.81459	-0.0923	9	.	.	.	-11.2033	19.7272	0.96168	0.0:1.0:0.0:0.0	.	400;417	P24046-2;P24046	.;GBRR1_HUMAN	R	417;400;330;330	ENSP00000412673:G417R;ENSP00000394687:G400R;ENSP00000358463:G330R	.	G	-	1	0	GABRR1	89945399	1.000000	0.71417	0.226000	0.23910	0.068000	0.16541	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	GGA		0.567	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			G	89888680	C	G	89888680	3	3	400	1	0	0	0	0	1	0	0	0	6178	603	21	4	194	4	GABRR1	6	89888680	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08	18701711	89888680	81226387	29	22101											
FBXL4	26235	broad.mit.edu;hgsc.bcm.edu	37	6	99365256	99365256	+	Silent	SNP	A	A	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:99365256A>C	ENST00000369244.2	-	5	1280	c.852T>G	c.(850-852)ccT>ccG	p.P284P	FBXL4_ENST00000229971.1_Silent_p.P284P	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	284	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.P284P(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTACCTCATAAGGTAGTTTAT	0.353																																																1	Substitution - coding silent(1)	kidney(1)											92	86	88					6																	99365256		2203	4299	6502	SO:0001819	synonymous_variant	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.852T>G	6.37:g.99365256A>C			B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	ENST00000369244.2	37	CCDS5041.1																																																																																				0.353	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			C	99365256	A	C	99365256	2	2	400	1	0	0	0	0	0	0	0	1	5723	59	3	5		5	FBXL4	6	99365256	Silent	SNP	A	TCGA-BP-4989-01A-01D-1462-08	9476576	99365256	71749811	30	22102											
MED23	9439	broad.mit.edu	37	6	131931276	131931276	+	Silent	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:131931276G>T	ENST00000368068.3	-	11	1166	c.987C>A	c.(985-987)ctC>ctA	p.L329L	MED23_ENST00000368053.4_Silent_p.L335L|MED23_ENST00000368060.3_Silent_p.L329L|MED23_ENST00000540546.1_Silent_p.L335L|MED23_ENST00000368058.1_Silent_p.L335L|MED23_ENST00000354577.4_Silent_p.L335L|MED23_ENST00000403834.3_Silent_p.L335L|MED23_ENST00000545957.1_Silent_p.L18L|MED23_ENST00000539158.1_Silent_p.L329L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	329					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.L335L(1)|p.L329L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCTGCCACAGGAGTTGGCTTG	0.483																																																2	Substitution - coding silent(2)	kidney(2)											128	123	125					6																	131931276		2203	4300	6503	SO:0001819	synonymous_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.987C>A	6.37:g.131931276G>T			B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	CCDS5147.1																																																																																				0.483	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			T	131931276	G	T	131931276	2	4	400	1	0	0	0	0	0	0	0	1	9443	1161	41	4		4	MED23	6	131931276	Silent	SNP	G	TCGA-BP-4989-01A-01D-1462-08	32566020	131931276	39183791	31	22103											
LATS1	9113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150004564	150004564	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:150004564C>T	ENST00000543571.1	-	4	2208	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.G554E|LATS1_ENST00000253339.5_Missense_Mutation_p.G554E	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.G554E(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGGTGGTGGTCCTTGATAGTT	0.493																																																2	Substitution - Missense(2)	kidney(2)											190	156	168					6																	150004564		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1661G>A	6.37:g.150004564C>T	ENSP00000437550:p.Gly554Glu			Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747386	0.69533	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.51071	0.72;0.72;3.27	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000014	T	0.60753	0.2293	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.979;1.0;0.979	T	0.55179	-0.8181	9	.	.	.	.	19.8134	0.96556	0.0:1.0:0.0:0.0	.	406;554;554	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	E	554	ENSP00000437550:G554E;ENSP00000253339:G554E;ENSP00000444678:G554E	.	G	-	2	0	LATS1	150046257	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	7.252000	0.78309	2.767000	0.95098	0.655000	0.94253	GGA		0.493	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		T	150004564	C	T	150004564	3	4	400	1	0	0	0	0	1	0	0	0	8648	855	30	2	1751	2	LATS1	6	150004564	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08	18073288	150004564	21110503	32	22104											
MLL5	55904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	104719411	104719411	+	Splice_Site	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr7:104719411G>A	ENST00000311117.3	+	12	1793		c.e12+1		KMT2E_ENST00000334877.4_Splice_Site|KMT2E_ENST00000334914.7_Splice_Site|KMT2E_ENST00000257745.4_Splice_Site|KMT2E_ENST00000476671.1_Splice_Site	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.?(1)									CAATGCAGAGGTAAGCTTATA	0.443																																																1	Unknown(1)	kidney(1)											88	85	86					7																	104719411		2203	4300	6503	SO:0001630	splice_region_variant	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1248+1G>A	7.37:g.104719411G>A			B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Splice_Site	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677332	0.88445	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7557	0.96287	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLL5	104506647	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.869000	0.99810	2.681000	0.91329	0.313000	0.20887	.		0.443	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		Intron	A	104719411	G	A	104719411	5	1	400	1	0	0	0	0	0	0	1	0	9626	1275	44	2	1287	2	MLL5	7	104719411	Splice_Site	SNP	G	TCGA-BP-4989-01A-01D-1462-08		104719411	54419252	33	22105											
PRKACG	5568	broad.mit.edu;hgsc.bcm.edu	37	9	71628614	71628614	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr9:71628614C>T	ENST00000377276.2	-	1	425	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.R132H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCGCTGTAGGCGGGAGAACAT	0.582																																					Esophageal Squamous(110;2236 2623 32146)											1	Substitution - Missense(1)	kidney(1)											96	77	84					9																	71628614		2203	4300	6503	SO:0001583	missense	5568			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.395G>A	9.37:g.71628614C>T	ENSP00000366488:p.Arg132His		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.784970	0.00628	.	.	ENSG00000165059	ENST00000377276	T	0.64991	-0.13	1.49	-2.98	0.05513	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.249513	0.20097	N	0.099306	T	0.29850	0.0746	N	0.11927	0.2	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.24621	-1.0155	10	0.09338	T	0.73	.	2.6917	0.05122	0.203:0.3142:0.0:0.4828	.	132	P22612	KAPCG_HUMAN	H	132	ENSP00000366488:R132H	ENSP00000366488:R132H	R	-	2	0	PRKACG	70818434	0.997000	0.39634	0.000000	0.03702	0.000000	0.00434	2.210000	0.42816	-2.153000	0.00793	-1.832000	0.00591	CGC		0.582	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			T	71628614	C	T	71628614	3	4	400	1	0	0	0	0	1	0	0	0	12504	768	27	1	664	1	PRKACG	9	71628614	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08		71628614	69584817	34	22106											
NR4A3	8013	broad.mit.edu	37	9	102591255	102591255	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr9:102591255G>A	ENST00000395097.2	+	3	1660	c.931G>A	c.(931-933)Ggc>Agc	p.G311S	NR4A3_ENST00000338488.4_Missense_Mutation_p.G311S|NR4A3_ENST00000330847.1_Missense_Mutation_p.G322S	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	311					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.G322S(1)|p.G311S(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AACCTGCGAGGGCTGCAAGGG	0.677			T	EWSR1	extraskeletal myxoid chondrosarcoma																																		Dom	yes		9	9q22	8013	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"		M	2	Substitution - Missense(2)	kidney(2)											8	8	8					9																	102591255		2112	4147	6259	SO:0001583	missense	8013			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.931G>A	9.37:g.102591255G>A	ENSP00000378531:p.Gly311Ser		A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230343	0.95207	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000395096;ENST00000330847	D;D;D	0.96913	-4.17;-4.17;-4.17	4.89	3.99	0.46301	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.148182	0.64402	D	0.000009	D	0.97757	0.9264	M	0.79614	2.46	0.80722	D	1	B;D;D	0.89917	0.053;1.0;0.992	B;D;P	0.91635	0.101;0.999;0.888	D	0.98258	1.0497	10	0.87932	D	0	.	13.6529	0.62320	0.0761:0.0:0.9239:0.0	.	322;311;311	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	S	311;311;135;322	ENSP00000378531:G311S;ENSP00000340301:G311S;ENSP00000333122:G322S	ENSP00000333122:G322S	G	+	1	0	NR4A3	101631076	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.723000	0.98772	1.168000	0.42723	0.557000	0.71058	GGC		0.677	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			A	102591255	G	A	102591255	3	1	400	1	0	0	0	0	1	0	0	0	10636	1232	43	2	970	2	NR4A3	9	102591255	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	30962641	102591255	38622176	35	22107											
RGS3	5998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116299108	116299108	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr9:116299108C>G	ENST00000374140.2	+	20	2156	c.1947C>G	c.(1945-1947)caC>caG	p.H649Q	RGS3_ENST00000343817.5_Missense_Mutation_p.H368Q|RGS3_ENST00000350696.5_Missense_Mutation_p.H649Q|RGS3_ENST00000462143.1_5'UTR|RGS3_ENST00000317613.6_Missense_Mutation_p.H537Q|RGS3_ENST00000374136.1_Missense_Mutation_p.H275Q|RGS3_ENST00000394646.3_Missense_Mutation_p.H368Q	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	649					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.H545Q(1)|p.H649Q(1)|p.H537Q(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGAAGCGCACTCGCAGGAGC	0.592																																																3	Substitution - Missense(3)	kidney(3)											139	127	131					9																	116299108		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1947C>G	9.37:g.116299108C>G	ENSP00000363255:p.His649Gln		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.160112|4.160112	0.78226|0.78226	.|.	.|.	ENSG00000138835|ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136|ENST00000496113	T;T;T;T;T;T|.	0.61742|.	0.08;0.08;0.08;0.08;0.08;0.08|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Pleckstrin homology-type (1);|.	0.144148|.	0.48286|.	D|.	0.000197|.	T|T	0.69495|0.69495	0.3117|0.3117	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;P;D;D;P;D|.	0.56521|.	0.261;0.61;0.976;0.96;0.919;0.974|.	B;B;P;B;P;P|.	0.49597|.	0.047;0.346;0.561;0.358;0.616;0.603|.	T|T	0.66709|0.66709	-0.5855|-0.5855	10|5	0.72032|.	D|.	0.01|.	.|.	16.0054|16.0054	0.80359|0.80359	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	368;275;368;539;537;649|.	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796|.	.;.;.;.;.;RGS3_HUMAN|.	Q|V	649;649;537;368;368;275|104	ENSP00000363255:H649Q;ENSP00000259406:H649Q;ENSP00000312844:H537Q;ENSP00000340284:H368Q;ENSP00000378141:H368Q;ENSP00000363251:H275Q|.	ENSP00000312844:H537Q|.	H|L	+|+	3|1	2|0	RGS3|RGS3	115338929|115338929	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.649000|3.649000	0.54417|0.54417	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	CAC|CTC		0.592	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		G	116299108	C	G	116299108	3	3	400	1	0	0	0	0	1	0	0	0	13312	564	20	4	2162	4	RGS3	9	116299108	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08	13707853	116299108	24914323	36	22108											
ABO	28	hgsc.bcm.edu	37	9	136131622	136131622	+	RNA	DEL	T	T	-	rs563704490	byFrequency	TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr9:136131622delT	ENST00000453660.2	-	0	506				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TGCCGACCGGTCCCCAGCGTC	0.662													T|T|-|deletion	16	0.00319489	0.0	0.0014	5008	,	,		15463	0.0		0.002	False		,,,				2504	0.0133															0										5,3859		1,3,1928	23	25	24			-5.8	0	9	dbSNP_129	24	21,7925		2,17,3954	no	frameshift	ABO	NM_020469.2		3,20,5882	A1A1,A1R,RR		0.2643,0.1294,0.2202			136131622	26,11784	2011	4161	6172			28			AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131622delT			B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Frame_Shift_Del	DEL	ENST00000453660.2	37																																																																																					0.662	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		-	136131622	T	-	136131622	6	5	400	0	1	1	0	1	0	0	0	0	97	1667	58	0		0	ABO	9	136131622	RNA	DEL	T	TCGA-BP-4989-01A-01D-1462-08	19832514	136131622	5081809	37	22109											
KIAA1217	56243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	24834980	24834980	+	Silent	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr10:24834980C>A	ENST00000376454.3	+	21	5589	c.5559C>A	c.(5557-5559)ctC>ctA	p.L1853L	KIAA1217_ENST00000376462.1_Silent_p.L1174L|KIAA1217_ENST00000458595.1_Silent_p.L1259L|KIAA1217_ENST00000376452.3_Silent_p.L1284L|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1853	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.L1853L(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGCCTCCCTCATCCCTTCTG	0.502																																																1	Substitution - coding silent(1)	kidney(1)											173	177	176					10																	24834980		2203	4300	6503	SO:0001819	synonymous_variant	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5559C>A	10.37:g.24834980C>A			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	CCDS31165.1																																																																																				0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		A	24834980	C	A	24834980	2	1	400	1	0	0	0	0	0	0	0	1	8218	813	29	4		4	KIAA1217	10	24834980	Silent	SNP	C	TCGA-BP-4989-01A-01D-1462-08		24834980	110699767	38	22110											
ZNF438	220929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	31138528	31138528	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr10:31138528A>G	ENST00000361310.3	-	6	1135	c.806T>C	c.(805-807)aTg>aCg	p.M269T	ZNF438_ENST00000538351.2_Missense_Mutation_p.M220T|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000436087.2_Missense_Mutation_p.M269T|ZNF438_ENST00000452305.1_Missense_Mutation_p.M259T|ZNF438_ENST00000444692.2_Missense_Mutation_p.M259T|ZNF438_ENST00000413025.1_Missense_Mutation_p.M269T|ZNF438_ENST00000331737.6_Missense_Mutation_p.M259T|ZNF438_ENST00000442986.1_Missense_Mutation_p.M269T			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	269					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M269T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TAAATTGGTCATGGTTTTTGC	0.403																																																1	Substitution - Missense(1)	kidney(1)											197	186	190					10																	31138528		2203	4300	6503	SO:0001583	missense	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.806T>C	10.37:g.31138528A>G	ENSP00000354663:p.Met269Thr		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	A	9.788	1.177189	0.21787	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19	5.25	1.37	0.22104	.	0.507066	0.24618	N	0.036982	T	0.06962	0.0177	L	0.44542	1.39	0.09310	N	1	B;B	0.16802	0.011;0.019	B;B	0.12156	0.003;0.007	T	0.29274	-1.0017	10	0.66056	D	0.02	-0.8102	5.0088	0.14302	0.7188:0.0:0.1493:0.1319	.	269;259	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	T	259;269;269;269;269;259;259;220	ENSP00000333571:M259T;ENSP00000354663:M269T;ENSP00000406934:M269T;ENSP00000412363:M269T;ENSP00000387546:M269T;ENSP00000413060:M259T;ENSP00000410898:M259T;ENSP00000445461:M220T	ENSP00000333571:M259T	M	-	2	0	ZNF438	31178534	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.862000	0.27899	-0.016000	0.14127	0.533000	0.62120	ATG		0.403	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		G	31138528	A	G	31138528	3	3	400	1	0	0	0	0	1	0	0	0	17915	217	8	3	1688	3	ZNF438	10	31138528	Missense_Mutation	SNP	A	TCGA-BP-4989-01A-01D-1462-08	6303548	31138528	104396219	39	22111											
PLAU	414236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75673067	75673067	+	Intron	SNP	C	C	T	rs375029894		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr10:75673067C>T	ENST00000409178.1	-	3	268				PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Nonsense_Mutation_p.R113*|PLAU_ENST00000372762.4_Nonsense_Mutation_p.R94*|PLAU_ENST00000372764.3_Nonsense_Mutation_p.R130*	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.R130*(1)		endometrium(1)	1	Prostate(51;0.0112)					CAACCGGAGGCGACCCTGGTG	0.572																																																1	Substitution - Nonsense(1)	kidney(1)						C	,stop/ARG,stop/ARG	0,4406		0,0,2203	110	112	111		,337,388	-6.9	0	10		111	1,8599	1.2+/-3.3	0,1,4299	no	intron,stop-gained,stop-gained	PLAU,C10orf55	NM_001001791.2,NM_001145031.1,NM_002658.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,113/415,130/432	75673067	1,13005	2203	4300	6503	SO:0001627	intron_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-234G>A	10.37:g.75673067C>T			Q3KRG4|Q8NAK4	Nonsense_Mutation	SNP	ENST00000409178.1	37	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131813	0.37630	0.0	1.16E-4	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	.	.	.	5.47	-6.86	0.01676	.	0.609153	0.16615	N	0.206730	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5284	0.16970	0.5129:0.2238:0.0:0.2634	.	.	.	.	X	113;130;94;94	.	ENSP00000361847:R94X	R	+	1	2	PLAU	75343073	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	-0.670000	0.05256	-0.998000	0.03446	0.650000	0.86243	CGA		0.572	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		T	75673067	C	T	75673067	1	4	400	0	1	0	0	0	0	0	0	0	12024	760	27	1		1	PLAU	10	75673067	Intron	SNP	C	TCGA-BP-4989-01A-01D-1462-08	44534539	75673067	59861680	40	22112											
ZFYVE27	118813	broad.mit.edu;hgsc.bcm.edu	37	10	99512825	99512825	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr10:99512825G>A	ENST00000393677.4	+	10	1132	c.928G>A	c.(928-930)Gag>Aag	p.E310K	ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E217K|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.E210K|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E303K|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E303K|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E271K|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.E185K|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E315K	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	310					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)	p.E315K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GTGCCCAGCAGAGGATGAGCT	0.647																																																1	Substitution - Missense(1)	kidney(1)											35	26	29					10																	99512825		2202	4300	6502	SO:0001583	missense	118813			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.928G>A	10.37:g.99512825G>A	ENSP00000377282:p.Glu310Lys		B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519165	0.96416	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T;T	0.48201	0.82;0.88;1.41;1.32;1.39;1.43;1.43	5.62	5.62	0.85841	Zinc finger, FYVE/PHD-type (1);	0.153029	0.64402	D	0.000013	T	0.52964	0.1767	L	0.29908	0.895	0.58432	D	0.999995	P;P;D;P;D;P;P	0.61697	0.859;0.917;0.976;0.591;0.99;0.913;0.952	P;P;P;B;P;P;P	0.55391	0.601;0.524;0.724;0.399;0.721;0.775;0.53	T	0.47935	-0.9078	10	0.38643	T	0.18	-25.3466	19.6574	0.95849	0.0:0.0:1.0:0.0	.	271;210;185;217;315;303;310	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	K	271;217;185;210;310;303;303;315;293	ENSP00000337993:E271K;ENSP00000359642:E210K;ENSP00000377282:E310K;ENSP00000401580:E303K;ENSP00000353069:E303K;ENSP00000348593:E315K;ENSP00000409594:E293K	ENSP00000337993:E271K	E	+	1	0	ZFYVE27	99502815	1.000000	0.71417	0.974000	0.42286	0.979000	0.70002	9.121000	0.94375	2.645000	0.89757	0.462000	0.41574	GAG		0.647	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		A	99512825	G	A	99512825	3	1	400	1	0	0	0	0	1	0	0	0	17674	943	33	2	977	2	ZFYVE27	10	99512825	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	23839758	99512825	36021922	41	22113											
OR51D1	390038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4661302	4661302	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr11:4661302G>T	ENST00000357605.2	+	1	358	c.282G>T	c.(280-282)atG>atT	p.M94I		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M94I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCCAAGATGGCCAGTCTTT	0.532																																																1	Substitution - Missense(1)	kidney(1)											148	114	126					11																	4661302		2201	4298	6499	SO:0001583	missense	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.282G>T	11.37:g.4661302G>T	ENSP00000350222:p.Met94Ile		B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	G	5.345	0.248912	0.10130	.	.	ENSG00000197428	ENST00000357605	T	0.05513	3.43	4.62	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.07052	0.0179	L	0.39633	1.23	0.35560	D	0.804636	B	0.20887	0.049	B	0.22880	0.042	T	0.12811	-1.0533	10	0.52906	T	0.07	.	11.8043	0.52145	0.0867:0.0:0.9133:0.0	.	94	Q8NGF3	O51D1_HUMAN	I	94	ENSP00000350222:M94I	ENSP00000350222:M94I	M	+	3	0	OR51D1	4617878	0.597000	0.26874	0.905000	0.35620	0.000000	0.00434	1.516000	0.35856	1.290000	0.44636	-0.251000	0.11542	ATG		0.532	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		T	4661302	G	T	4661302	3	4	400	1	0	0	0	0	1	0	0	0	11095	1348	47	4	284	4	OR51D1	11	4661302	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08		4661302	130345214	42	22114											
PAAF1	80227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73638349	73638349	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr11:73638349A>T	ENST00000310571.3	+	12	1174	c.1121A>T	c.(1120-1122)cAg>cTg	p.Q374L	PAAF1_ENST00000536003.1_Missense_Mutation_p.Q357L|PAAF1_ENST00000544909.1_Missense_Mutation_p.Q375L|PAAF1_ENST00000535604.1_Missense_Mutation_p.Q259L|PAAF1_ENST00000541951.1_Missense_Mutation_p.Q259L|RP11-707G14.7_ENST00000535936.1_lincRNA|PAAF1_ENST00000376384.5_Missense_Mutation_p.Q357L|PAAF1_ENST00000544552.1_Missense_Mutation_p.Q357L	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	374					viral process (GO:0016032)	proteasome complex (GO:0000502)		p.Q374L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGGGAGAAGCAGATCTACACA	0.458																																																1	Substitution - Missense(1)	kidney(1)											157	134	142					11																	73638349		2200	4293	6493	SO:0001583	missense	80227			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"WD repeat domain containing"	25687	protein-coding gene	gene with protein product			"WD repeat domain 71"	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.1121A>T	11.37:g.73638349A>T	ENSP00000311665:p.Gln374Leu		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256935	0.22965	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.213933	0.34025	N	0.004339	T	0.20129	0.0484	N	0.17474	0.49	0.37050	D	0.897541	P;P	0.48294	0.908;0.851	D;P	0.64144	0.922;0.775	T	0.12016	-1.0564	10	0.11485	T	0.65	-7.2406	11.1165	0.48264	1.0:0.0:0.0:0.0	.	357;374	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	L	259;374;259;357;357;357;375	ENSP00000441333:Q259L;ENSP00000311665:Q374L;ENSP00000438789:Q259L;ENSP00000438124:Q357L;ENSP00000441494:Q357L;ENSP00000365564:Q357L;ENSP00000438071:Q375L	ENSP00000311665:Q374L	Q	+	2	0	PAAF1	73315997	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.763000	0.55257	2.193000	0.70182	0.528000	0.53228	CAG		0.458	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		T	73638349	A	T	73638349	3	4	400	1	0	0	0	0	1	0	0	0	11364	188	7	5	1167	5	PAAF1	11	73638349	Missense_Mutation	SNP	A	TCGA-BP-4989-01A-01D-1462-08	68977047	73638349	61368167	43	22115											
ALG8	79053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77812070	77812070	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr11:77812070C>A	ENST00000299626.5	-	13	1592	c.1521G>T	c.(1519-1521)tgG>tgT	p.W507C	ALG8_ENST00000532552.2_5'Flank|ALG8_ENST00000376156.3_3'UTR	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	507					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.W507C(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			ACAGTTTGAACCAAGCATATG	0.388																																																1	Substitution - Missense(1)	kidney(1)											146	138	140					11																	77812070		2200	4292	6492	SO:0001583	missense	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1521G>T	11.37:g.77812070C>A	ENSP00000299626:p.Trp507Cys		A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	CCDS8258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.03|16.03	3.006109|3.006109	0.54361|0.54361	.|.	.|.	ENSG00000159063|ENSG00000159063	ENST00000530608|ENST00000299626;ENST00000526849	.|D;D	.|0.84873	.|-1.91;-1.91	4.95|4.95	4.04|4.04	0.47022|0.47022	.|.	.|0.111353	.|0.64402	.|D	.|0.000004	D|D	0.91922|0.91922	0.7442|0.7442	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	.|P;D	.|0.76494	.|0.937;0.999	.|P;D	.|0.74348	.|0.646;0.983	D|D	0.92530|0.92530	0.6032|0.6032	5|10	.|0.54805	.|T	.|0.06	-5.4079|-5.4079	13.6777|13.6777	0.62465|0.62465	0.0:0.9257:0.0:0.0743|0.0:0.9257:0.0:0.0743	.|.	.|507;507	.|B3KQL8;Q9BVK2	.|.;ALG8_HUMAN	V|C	209|507;178	.|ENSP00000299626:W507C;ENSP00000434388:W178C	.|ENSP00000299626:W507C	G|W	-|-	2|3	0|0	ALG8|ALG8	77489718|77489718	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	3.767000|3.767000	0.55288|0.55288	1.449000|1.449000	0.47699|0.47699	0.563000|0.563000	0.77884|0.77884	GGT|TGG		0.388	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079		A	77812070	C	A	77812070	3	1	400	1	0	0	0	0	1	0	0	0	523	508	18	4	63	4	ALG8	11	77812070	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08	4173721	77812070	57194446	44	22116											
CHD4	1108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6688041	6688041	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:6688041T>G	ENST00000357008.2	-	34	5115	c.4952A>C	c.(4951-4953)gAt>gCt	p.D1651A	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.D1644A|CHD4_ENST00000544484.1_Missense_Mutation_p.D1676A|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000309577.6_Missense_Mutation_p.D1679A	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1651	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.D1651A(1)|p.D1679A(1)		central_nervous_system(2)	2						AGGGGTCAGATCTATTGCTGA	0.438																																					Colon(32;586 792 4568 16848 45314)											2	Substitution - Missense(2)	kidney(2)											168	143	151					12																	6688041		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4952A>C	12.37:g.6688041T>G	ENSP00000349508:p.Asp1651Ala		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013881	0.54468	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.65	5.7	5.7	0.88788	.	0.310798	0.34932	N	0.003567	D	0.87728	0.6250	L	0.53249	1.67	0.47511	D	0.999441	B;B;B	0.33612	0.419;0.141;0.221	B;B;B	0.31614	0.133;0.063;0.133	D	0.86170	0.1599	10	0.36615	T	0.2	.	14.1997	0.65693	0.0:0.0:0.0:1.0	.	1679;1651;1644	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	A	1676;1644;1679;1651;1625	ENSP00000440392:D1676A;ENSP00000440542:D1644A;ENSP00000312419:D1679A;ENSP00000349508:D1651A	ENSP00000312419:D1679A	D	-	2	0	CHD4	6558302	0.988000	0.35896	0.994000	0.49952	0.957000	0.61999	4.757000	0.62213	2.183000	0.69458	0.533000	0.62120	GAT		0.438	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		G	6688041	T	G	6688041	3	3	400	1	0	0	0	0	1	0	0	0	3329	1435	50	5	814	5	CHD4	12	6688041	Missense_Mutation	SNP	T	TCGA-BP-4989-01A-01D-1462-08		6688041	127163854	45	22117											
PLEKHA5	54477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	19410396	19410396	+	Silent	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:19410396T>C	ENST00000299275.6	+	6	468	c.462T>C	c.(460-462)aaT>aaC	p.N154N	PLEKHA5_ENST00000429027.2_Silent_p.N154N|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000538714.1_Silent_p.N154N|PLEKHA5_ENST00000355397.3_Silent_p.N154N|PLEKHA5_ENST00000309364.4_Silent_p.N154N|PLEKHA5_ENST00000543806.1_Silent_p.N46N|PLEKHA5_ENST00000317589.4_Silent_p.N154N|PLEKHA5_ENST00000424268.1_Silent_p.N46N|PLEKHA5_ENST00000359180.3_Silent_p.N154N	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	154					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.N154N(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGTTCATAATTTTGGAAAGA	0.318																																					Pancreas(196;329 2193 11246 14234 19524)											2	Substitution - coding silent(2)	kidney(2)											79	90	86					12																	19410396		2203	4300	6503	SO:0001819	synonymous_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.462T>C	12.37:g.19410396T>C			A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	ENST00000299275.6	37	CCDS8682.1																																																																																				0.318	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		C	19410396	T	C	19410396	2	2	400	1	0	0	0	0	0	0	0	1	12061	1490	52	3		3	PLEKHA5	12	19410396	Silent	SNP	T	TCGA-BP-4989-01A-01D-1462-08	12722355	19410396	114441499	46	22118											
OR8S1	341568	broad.mit.edu	37	12	48921863	48921863	+	Missense_Mutation	SNP	G	G	A	rs545295453		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:48921863G>A	ENST00000310194.1	+	2	1057	c.1057G>A	c.(1057-1059)Gcg>Acg	p.A353T	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	353						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A353T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CGCGCTGCGCGCGGCGCCCAC	0.662																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	341568				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.1057G>A	12.37:g.48921863G>A	ENSP00000310632:p.Ala353Thr			Missense_Mutation	SNP	ENST00000310194.1	37	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	G	5.482	0.273913	0.10403	.	.	ENSG00000197376	ENST00000310194	T	0.03689	3.84	0.158	-0.317	0.12736	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.08055	0.003	T	0.46275	-0.9203	8	0.66056	D	0.02	.	.	.	.	.	353	Q8NH09	OR8S1_HUMAN	T	353	ENSP00000310632:A353T	ENSP00000310632:A353T	A	+	1	0	OR8S1	47208130	0.725000	0.28048	0.024000	0.17045	0.025000	0.11179	-0.727000	0.04931	-1.055000	0.03209	-1.048000	0.02349	GCG		0.662	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			A	48921863	G	A	48921863	3	1	400	1	0	0	0	0	1	0	0	0	11248	1087	38	1	1063	1	OR8S1	12	48921863	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	29511467	48921863	84930032	47	22119											
KRT85	3891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52756641	52756641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:52756641G>T	ENST00000257901.3	-	6	1149	c.1074C>A	c.(1072-1074)tgC>tgA	p.C358*	KRT85_ENST00000544265.1_Nonsense_Mutation_p.C146*	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	358	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.C358*(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCCACCTGGCACTTGGCAT	0.597																																																1	Substitution - Nonsense(1)	kidney(1)											134	111	119					12																	52756641		2203	4300	6503	SO:0001587	stop_gained	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1074C>A	12.37:g.52756641G>T	ENSP00000257901:p.Cys358*		Q9NSB1	Nonsense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307723	0.81247	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	.	.	.	4.49	2.6	0.31112	.	0.092556	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	2.4354	0.04481	0.225:0.1309:0.5098:0.1343	.	.	.	.	X	358;146	.	ENSP00000257901:C358X	C	-	3	2	KRT85	51042908	0.011000	0.17503	1.000000	0.80357	0.959000	0.62525	0.094000	0.15107	1.117000	0.41842	0.561000	0.74099	TGC		0.597	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		T	52756641	G	T	52756641	4	4	400	1	0	0	0	0	0	1	0	0	8501	1195	42	4	465	4	KRT85	12	52756641	Nonsense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	3834778	52756641	81095254	48	22120											
KRT1	3848	broad.mit.edu;ucsc.edu	37	12	53069018	53069018	+	Missense_Mutation	SNP	C	C	T	rs532003323		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:53069018C>T	ENST00000252244.3	-	9	1952	c.1894G>A	c.(1894-1896)Gtg>Atg	p.V632M		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	632	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.V632M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ACAAACTTCACGCTGGAACTG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		13550	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											93	102	99					12																	53069018		2203	4300	6503	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1894G>A	12.37:g.53069018C>T	ENSP00000252244:p.Val632Met		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	5.184	0.219543	0.09863	.	.	ENSG00000167768	ENST00000252244	D	0.83992	-1.79	3.52	2.62	0.31277	.	.	.	.	.	T	0.67297	0.2878	N	0.08118	0	0.27696	N	0.945938	D	0.58268	0.982	B	0.44085	0.44	T	0.61123	-0.7126	9	0.66056	D	0.02	.	6.9173	0.24367	0.0:0.777:0.0:0.223	.	632	P04264	K2C1_HUMAN	M	632	ENSP00000252244:V632M	ENSP00000252244:V632M	V	-	1	0	KRT1	51355285	.	.	0.989000	0.46669	0.453000	0.32348	.	.	0.830000	0.34757	0.313000	0.20887	GTG		0.557	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		T	53069018	C	T	53069018	3	4	400	1	0	0	0	0	1	0	0	0	8449	536	19	1	44	1	KRT1	12	53069018	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08	312377	53069018	80782877	49	22121											
ERBB3	2065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56487573	56487573	+	Silent	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:56487573A>G	ENST00000267101.3	+	13	1946	c.1506A>G	c.(1504-1506)ccA>ccG	p.P502P	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Silent_p.P443P|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	502					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)	p.P502P(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGTGTGACCCACTGTGCTCCT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											85	87	86					12																	56487573		2203	4300	6503	SO:0001819	synonymous_variant	2065			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.1506A>G	12.37:g.56487573A>G			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	CCDS31833.1																																																																																				0.567	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			G	56487573	A	G	56487573	2	3	400	1	0	0	0	0	0	0	0	1	5210	146	6	3		3	ERBB3	12	56487573	Silent	SNP	A	TCGA-BP-4989-01A-01D-1462-08	3418555	56487573	77364322	50	22122											
TSPAN19	144448	broad.mit.edu;ucsc.edu	37	12	85421790	85421790	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:85421790G>A	ENST00000532498.2	-	4	231	c.151C>T	c.(151-153)Cac>Tac	p.H51Y	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	51						integral component of membrane (GO:0016021)		p.H51Y(1)		ovary(1)	1						ACTATGAAGTGATTATTTTCA	0.269																																																1	Substitution - Missense(1)	kidney(1)											52	49	50					12																	85421790		1799	4066	5865	SO:0001583	missense	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.151C>T	12.37:g.85421790G>A	ENSP00000433816:p.His51Tyr			Missense_Mutation	SNP	ENST00000532498.2	37	CCDS44949.1	.	.	.	.	.	.	.	.	.	.	G	3.817	-0.038592	0.07497	.	.	ENSG00000231738	ENST00000532498;ENST00000547836	T;T	0.78924	-1.22;-1.22	4.4	3.49	0.39957	.	.	.	.	.	T	0.66867	0.2833	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	D	0.63192	0.912	T	0.58612	-0.7606	9	0.02654	T	1	.	7.3205	0.26526	0.1155:0.0:0.8845:0.0	.	51	P0C672	TSN19_HUMAN	Y	51	ENSP00000433816:H51Y;ENSP00000446898:H51Y	ENSP00000433816:H51Y	H	-	1	0	TSPAN19	83945921	0.627000	0.27129	0.040000	0.18447	0.003000	0.03518	0.582000	0.23834	2.379000	0.81126	0.655000	0.94253	CAC		0.269	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		A	85421790	G	A	85421790	3	1	400	1	0	0	0	0	1	0	0	0	16648	1290	45	2	619	2	TSPAN19	12	85421790	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	28934217	85421790	48430105	51	22123											
SLC7A1	6541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	30091722	30091722	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr13:30091722T>C	ENST00000380752.5	-	10	1884	c.1498A>G	c.(1498-1500)Acc>Gcc	p.T500A	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	500					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.T500A(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGAGGCTGGTTGAAATGTTC	0.498																																																1	Substitution - Missense(1)	kidney(1)											152	150	151					13																	30091722		2203	4300	6503	SO:0001583	missense	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1498A>G	13.37:g.30091722T>C	ENSP00000370128:p.Thr500Ala		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	T	0.651	-0.809634	0.02798	.	.	ENSG00000139514	ENST00000380752	D	0.85955	-2.05	5.24	2.96	0.34315	.	0.347254	0.33401	N	0.004946	T	0.61022	0.2314	N	0.04508	-0.205	0.35248	D	0.77839	B	0.02656	0.0	B	0.04013	0.001	T	0.55749	-0.8092	10	0.05525	T	0.97	.	6.2119	0.20633	0.0:0.43:0.0:0.57	.	500	P30825	CTR1_HUMAN	A	500	ENSP00000370128:T500A	ENSP00000370128:T500A	T	-	1	0	SLC7A1	28989722	0.139000	0.22563	0.996000	0.52242	0.678000	0.39670	0.285000	0.18883	0.486000	0.27676	0.533000	0.62120	ACC		0.498	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		C	30091722	T	C	30091722	3	2	400	1	0	0	0	0	1	0	0	0	14698	1725	60	3	407	3	SLC7A1	13	30091722	Missense_Mutation	SNP	T	TCGA-BP-4989-01A-01D-1462-08		30091722	85078156	52	22124											
PCDH9	5101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	67205519	67205519	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr13:67205519G>A	ENST00000377865.2	-	3	3297	c.3163C>T	c.(3163-3165)Ctc>Ttc	p.L1055F	PCDH9_ENST00000544246.1_Missense_Mutation_p.L1055F|PCDH9_ENST00000328454.5_Missense_Mutation_p.L1021F|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.L1021F			Q9HC56	PCDH9_HUMAN	protocadherin 9	1055					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1055F(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCATCAGGGAGATGAAACGTA	0.502																																																1	Substitution - Missense(1)	kidney(1)											87	76	80					13																	67205519		2203	4300	6503	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3163C>T	13.37:g.67205519G>A	ENSP00000367096:p.Leu1055Phe		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295964	0.81025	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.63255	-0.03;-0.03;0.01;0.01	5.63	4.79	0.61399	.	0.000000	0.37955	N	0.001876	T	0.60830	0.2299	L	0.46157	1.445	0.37594	D	0.920287	P;P	0.52842	0.799;0.956	B;P	0.45971	0.371;0.499	T	0.69862	-0.5030	10	0.72032	D	0.01	.	14.3982	0.67025	0.0709:0.0:0.9291:0.0	.	1021;1055	Q9HC56-2;Q9HC56	.;PCDH9_HUMAN	F	1055;1055;1021;1021	ENSP00000442186:L1055F;ENSP00000367096:L1055F;ENSP00000401699:L1021F;ENSP00000332060:L1021F	ENSP00000332060:L1021F	L	-	1	0	PCDH9	66103520	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.476000	0.97823	1.385000	0.46445	0.655000	0.94253	CTC		0.502	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		A	67205519	G	A	67205519	3	1	400	1	0	0	0	0	1	0	0	0	11520	942	33	2	558	2	PCDH9	13	67205519	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	37113797	67205519	47964359	53	22125											
FAM158A	51016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24608257	24608257	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr14:24608257G>C	ENST00000419198.2	-	5	869	c.589C>G	c.(589-591)Cag>Gag	p.Q197E	EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000560403.1_Missense_Mutation_p.Q123E|EMC9_ENST00000216799.4_Missense_Mutation_p.Q197E|RP11-468E2.5_ENST00000558478.1_lincRNA			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	197						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)		p.Q197E(1)									CCAACCCACTGGGTGATTTGA	0.562																																																1	Substitution - Missense(1)	kidney(1)											65	62	63					14																	24608257		2203	4300	6503	SO:0001583	missense	0			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 122", "family with sequence similarity 158, member A"	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.589C>G	14.37:g.24608257G>C	ENSP00000403210:p.Gln197Glu		D3DS60|Q9BUM3	Missense_Mutation	SNP	ENST00000419198.2	37	CCDS9613.1	.	.	.	.	.	.	.	.	.	.	g	2.106	-0.405009	0.04832	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.40476	1.03;1.03	4.92	4.92	0.64577	.	0.117840	0.56097	D	0.000021	T	0.19327	0.0464	N	0.02736	-0.51	0.40044	D	0.975693	B	0.10296	0.003	B	0.12837	0.008	T	0.12344	-1.0551	10	0.07644	T	0.81	-26.615	15.645	0.77042	0.0:0.0:1.0:0.0	.	197	Q9Y3B6	F158A_HUMAN	E	197	ENSP00000403210:Q197E;ENSP00000216799:Q197E	ENSP00000216799:Q197E	Q	-	1	0	FAM158A	23678097	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	4.646000	0.61411	2.550000	0.86006	0.655000	0.94253	CAG		0.562	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071917.4	NM_016049		C	24608257	G	C	24608257	3	2	400	1	0	0	0	0	1	0	0	0	5469	1357	47	4	41	4	FAM158A	14	24608257	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08		24608257	82741283	54	22126											
KLC1	3831	hgsc.bcm.edu;ucsc.edu	37	14	104129226	104129226	+	Silent	SNP	C	C	T	rs200653403		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr14:104129226C>T	ENST00000348520.6	+	5	1078	c.759C>T	c.(757-759)gaC>gaT	p.D253D	KLC1_ENST00000389744.4_Silent_p.D253D|KLC1_ENST00000445352.4_Silent_p.D253D|RP11-73M18.2_ENST00000472726.2_Silent_p.D425D|KLC1_ENST00000557575.1_Silent_p.D253D|KLC1_ENST00000334553.6_Silent_p.D253D|KLC1_ENST00000557450.1_Silent_p.D253D|KLC1_ENST00000554280.1_Silent_p.D253D|KLC1_ENST00000553286.1_Silent_p.D253D|KLC1_ENST00000380038.3_Silent_p.D253D|KLC1_ENST00000555836.1_Silent_p.D253D|KLC1_ENST00000452929.2_Silent_p.D253D|KLC1_ENST00000347839.6_Silent_p.D253D|KLC1_ENST00000246489.7_Silent_p.D253D	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	253					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D253D(2)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				ACCACCCGGACGTGGCCACCA	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14765	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)											48	37	41					14																	104129226		2203	4300	6503	SO:0001819	synonymous_variant	3831			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"Tetratricopeptide (TTC) repeat domain containing"	6387	protein-coding gene	gene with protein product		600025	"kinesin 2 60/70kDa", "kinesin 2"	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.759C>T	14.37:g.104129226C>T			A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Silent	SNP	ENST00000348520.6	37	CCDS41996.1																																																																																				0.542	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		T	104129226	C	T	104129226	2	4	400	1	0	0	0	0	0	0	0	1	8335	535	19	1		1	KLC1	14	104129226	Silent	SNP	C	TCGA-BP-4989-01A-01D-1462-08	79520969	104129226	3220314	55	22127											
MAN2C1	4123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75650634	75650634	+	Missense_Mutation	SNP	C	C	G	rs150703780		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr15:75650634C>G	ENST00000267978.5	-	21	2501	c.2455G>C	c.(2455-2457)Gtg>Ctg	p.V819L	RP11-817O13.6_ENST00000563660.1_lincRNA|MAN2C1_ENST00000569482.1_Missense_Mutation_p.V819L|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V720L|MAN2C1_ENST00000565683.1_Missense_Mutation_p.V836L	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	819					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V819L(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GAACTCCGCACGCGAGCAGGG	0.577																																																1	Substitution - Missense(1)	kidney(1)						C	LEU/VAL	0,4394		0,0,2197	102	86	92		2455	4.8	0.9	15	dbSNP_134	92	1,8587	1.2+/-3.3	0,1,4293	no	missense	MAN2C1	NM_006715.2	32	0,1,6490	GG,GC,CC		0.0116,0.0,0.0077	benign	819/1041	75650634	1,12981	2197	4294	6491	SO:0001583	missense	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2455G>C	15.37:g.75650634C>G	ENSP00000267978:p.Val819Leu		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366012	0.61513	0.0	1.16E-4	ENSG00000140400	ENST00000267978	T	0.77489	-1.1	5.72	4.79	0.61399	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.111425	0.64402	D	0.000012	T	0.77772	0.4180	M	0.63428	1.95	0.50171	D	0.99985	B;B	0.23591	0.052;0.088	B;B	0.33750	0.075;0.169	T	0.74490	-0.3648	10	0.39692	T	0.17	-20.172	14.245	0.65983	0.0:0.9272:0.0:0.0728	.	819;819	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	L	819	ENSP00000267978:V819L	ENSP00000267978:V819L	V	-	1	0	MAN2C1	73437687	0.994000	0.37717	0.920000	0.36463	0.702000	0.40608	3.179000	0.50887	1.391000	0.46566	0.561000	0.74099	GTG		0.577	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			G	75650634	C	G	75650634	3	3	400	1	0	0	0	0	1	0	0	0	9220	536	19	4	691	4	MAN2C1	15	75650634	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08		75650634	26880758	56	22128											
IL16	3603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	81589274	81589274	+	Silent	SNP	G	G	A	rs374086303		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr15:81589274G>A	ENST00000302987.4	+	12	1908	c.1908G>A	c.(1906-1908)gcG>gcA	p.A636A	IL16_ENST00000394652.2_5'UTR|IL16_ENST00000394660.2_Silent_p.A636A			Q14005	IL16_HUMAN	interleukin 16	636					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A636A(1)|p.A590A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACAGGAAGCGAGAGAGCTGC	0.567																																																2	Substitution - coding silent(2)	kidney(2)						C	,,	0,3892		0,0,1946	21	26	24		1908,,1908	2.5	1	15		24	1,8295		0,1,4147	no	coding-synonymous,utr-5,coding-synonymous	IL16	NM_001172128.1,NM_004513.5,NM_172217.3	,,	0,1,6093	AA,AG,GG		0.0121,0.0,0.0082	,,	636/1332,,636/1333	81589274	1,12187	1946	4148	6094	SO:0001819	synonymous_variant	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1908G>A	15.37:g.81589274G>A			A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	CCDS42069.1																																																																																				0.567	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		A	81589274	G	A	81589274	2	1	400	1	0	0	0	0	0	0	0	1	7635	1045	37	1		1	IL16	15	81589274	Silent	SNP	G	TCGA-BP-4989-01A-01D-1462-08	5938640	81589274	20942118	57	22129											
AXIN1	8312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	396290	396291	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr16:396290_396291CC>TT	ENST00000262320.3	-	2	1106_1107	c.735_736GG>AA	c.(733-738)gaGGaa>gaAAaa	p.E246K	AXIN1_ENST00000354866.3_Missense_Mutation_p.E246K|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	246	Interaction with TP53. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.E245E(1)|p.E246K(1)|p.E245>?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CACTTCCATTCCTCATCTTCAT	0.584																																																3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	8312			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.735_736delinsTT	16.37:g.396290_396291delinsTT	ENSP00000262320:p.Glu246Lys		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation|Silent	SNP	ENST00000262320.3	37	CCDS10405.1																																																																																				0.584	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			TT	396291	CC	TT	396290	3	4	400	1	0	0	0	0	1	0	0	0	1236	864	30	2	1892	2	AXIN1	16	396290	Missense_Mutation	DNP	CC	TCGA-BP-4989-01A-01D-1462-08		396290	89958463	58	22130											
SEC14L5	9717	broad.mit.edu	37	16	5050877	5050877	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr16:5050877G>A	ENST00000251170.7	+	10	1261	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	361	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.G361R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAACGAGGAAGGACAGAAGCG	0.627																																																1	Substitution - Missense(1)	kidney(1)											25	29	27					16																	5050877		2099	4237	6336	SO:0001583	missense	9717			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1081G>A	16.37:g.5050877G>A	ENSP00000251170:p.Gly361Arg			Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579337	0.65878	.	.	ENSG00000103184	ENST00000251170	T	0.75938	-0.98	4.3	4.3	0.51218	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.092126	0.46145	D	0.000302	T	0.81607	0.4858	M	0.70903	2.155	0.80722	D	1	P	0.46512	0.879	P	0.53549	0.729	T	0.81726	-0.0801	10	0.38643	T	0.18	-16.9817	17.3174	0.87228	0.0:0.0:1.0:0.0	.	361	O43304	S14L5_HUMAN	R	361	ENSP00000251170:G361R	ENSP00000251170:G361R	G	+	1	0	SEC14L5	4990878	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	9.099000	0.94207	2.398000	0.81561	0.563000	0.77884	GGA		0.627	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			A	5050877	G	A	5050877	3	1	400	1	0	0	0	0	1	0	0	0	13991	1001	35	2	1115	2	SEC14L5	16	5050877	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	4654587	5050877	85303876	59	22131											
ABCC6	368	broad.mit.edu;ucsc.edu	37	16	16244592	16244592	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr16:16244592G>T	ENST00000205557.7	-	30	4275	c.4246C>A	c.(4246-4248)Ctt>Att	p.L1416I		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1416	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L1416I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TTCCGGAGAAGGGCACGTGCC	0.612																																																1	Substitution - Missense(1)	kidney(1)											45	39	41					16																	16244592		2197	4300	6497	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4246C>A	16.37:g.16244592G>T	ENSP00000205557:p.Leu1416Ile		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115725	0.77323	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.95137	-3.62	4.36	4.36	0.52297	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.38548	U	0.001641	D	0.96150	0.8745	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96914	0.9669	10	0.87932	D	0	.	16.8809	0.86062	0.0:0.0:1.0:0.0	.	1416;1416	O95255;A8Y988	MRP6_HUMAN;.	I	1416;354	ENSP00000205557:L1416I	ENSP00000205557:L1416I	L	-	1	0	ABCC6	16152093	1.000000	0.71417	0.938000	0.37757	0.947000	0.59692	3.019000	0.49635	2.154000	0.67381	0.549000	0.68633	CTT		0.612	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			T	16244592	G	T	16244592	3	4	400	1	0	0	0	0	1	0	0	0	57	1000	35	4	273	4	ABCC6	16	16244592	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	11193715	16244592	74110161	60	22132											
GINS3	64785	hgsc.bcm.edu	37	16	58438630	58438630	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr16:58438630delC	ENST00000318129.5	+	3	856	c.648delC	c.(646-648)gacfs	p.D216fs	GINS3_ENST00000426538.2_Frame_Shift_Del_p.D255fs|GINS3_ENST00000328514.7_Frame_Shift_Del_p.D138fs	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	216					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						ATATGGAAGACTGAAAGCCGG	0.478																																																0													31	30	30					16																	58438630		2198	4300	6498	SO:0001589	frameshift_variant	64785			BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.648delC	16.37:g.58438630delC	ENSP00000318196:p.Asp216fs		B2RDP3|E9PB21|Q9H870	Frame_Shift_Del	DEL	ENST00000318129.5	37	CCDS10796.1																																																																																				0.478	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	NM_022770		-	58438630	C	-	58438630	7	5	400	1	0	1	0	1	0	0	0	0	6391	564	20	0	779	0	GINS3	16	58438630	Frame_Shift_Del	DEL	C	TCGA-BP-4989-01A-01D-1462-08	42194038	58438630	31916123	61	22133											
HOXB1	3211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46608210	46608210	+	Silent	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr17:46608210G>T	ENST00000239174.6	-	1	149	c.57C>A	c.(55-57)ccC>ccA	p.P19P	HOXB1_ENST00000577092.1_Silent_p.P19P	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	19					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.P19P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTAGGCGCTGGGTCCCCGGT	0.632																																																1	Substitution - coding silent(1)	kidney(1)											62	72	69					17																	46608210		2203	4300	6503	SO:0001819	synonymous_variant	3211				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.57C>A	17.37:g.46608210G>T			Q4VB03	Silent	SNP	ENST00000239174.6	37	CCDS32675.1																																																																																				0.632	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			T	46608210	G	T	46608210	2	4	400	1	0	0	0	0	0	0	0	1	7301	1335	47	4		4	HOXB1	17	46608210	Silent	SNP	G	TCGA-BP-4989-01A-01D-1462-08		46608210	34587000	62	22134											
KIF2B	84643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	51900736	51900736	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr17:51900736A>C	ENST00000268919.4	+	1	498	c.342A>C	c.(340-342)aaA>aaC	p.K114N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	114					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K114N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCGCCACGAAATGGGTTGCGA	0.597																																																1	Substitution - Missense(1)	kidney(1)											75	80	79					17																	51900736		2203	4300	6503	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.342A>C	17.37:g.51900736A>C	ENSP00000268919:p.Lys114Asn		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	0.037	-1.302257	0.01353	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74002	-0.8	5.11	-3.14	0.05250	.	1.354900	0.05622	N	0.580075	T	0.50803	0.1637	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.29305	-1.0016	10	0.10111	T	0.7	.	1.1922	0.01867	0.3503:0.2517:0.2696:0.1283	.	114	Q8N4N8	KIF2B_HUMAN	N	114;37	ENSP00000268919:K114N	ENSP00000268919:K114N	K	+	3	2	KIF2B	49255735	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.227000	0.09126	-0.213000	0.10094	-0.242000	0.12053	AAA		0.597	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		C	51900736	A	C	51900736	3	2	400	1	0	0	0	0	1	0	0	0	8300	98	4	5	344	5	KIF2B	17	51900736	Missense_Mutation	SNP	A	TCGA-BP-4989-01A-01D-1462-08	5292526	51900736	29294474	63	22135											
TTYH2	94015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72249930	72249930	+	Silent	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr17:72249930C>T	ENST00000269346.4	+	13	1556	c.1482C>T	c.(1480-1482)taC>taT	p.Y494Y	TTYH2_ENST00000441391.2_Silent_p.Y173Y|TTYH2_ENST00000529107.1_Silent_p.Y473Y	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	494						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.Y494Y(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ACCCACGCTACGAGAACGTGC	0.562																																																1	Substitution - coding silent(1)	kidney(1)											164	132	143					17																	72249930		2203	4300	6503	SO:0001819	synonymous_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1482C>T	17.37:g.72249930C>T			B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	CCDS32717.1																																																																																				0.562	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			T	72249930	C	T	72249930	2	4	400	1	0	0	0	0	0	0	0	1	16745	547	19	1		1	TTYH2	17	72249930	Silent	SNP	C	TCGA-BP-4989-01A-01D-1462-08	20349194	72249930	8945280	64	22136											
ILF3	3609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10799269	10799269	+	Silent	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr19:10799269C>T	ENST00000590261.1	+	18	2466	c.2466C>T	c.(2464-2466)ggC>ggT	p.G822G	ILF3_ENST00000318511.3_Silent_p.G822G|ILF3_ENST00000449870.1_Silent_p.G826G|ILF3_ENST00000588657.1_Silent_p.G826G|ILF3_ENST00000586544.1_3'UTR			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	822	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G822G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACAGCTACGGCTCAGGCGGGG	0.647																																																1	Substitution - coding silent(1)	kidney(1)											55	66	63					19																	10799269		2203	4300	6503	SO:0001819	synonymous_variant	3609			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2466C>T	19.37:g.10799269C>T			A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	CCDS12246.1																																																																																				0.647	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			T	10799269	C	T	10799269	2	4	400	1	0	0	0	0	0	0	0	1	7714	784	28	2		2	ILF3	19	10799269	Silent	SNP	C	TCGA-BP-4989-01A-01D-1462-08		10799269	48329714	65	22137											
DHX34	9704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47856562	47856562	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr19:47856562C>T	ENST00000328771.4	+	2	624	c.275C>T	c.(274-276)gCg>gTg	p.A92V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	92					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.A92V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCATCCCAGCGCTGGCCGAC	0.582																																																1	Substitution - Missense(1)	kidney(1)											110	108	109					19																	47856562		2203	4300	6503	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.275C>T	19.37:g.47856562C>T	ENSP00000331907:p.Ala92Val		B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	9.612	1.131600	0.21041	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02787	4.16	5.84	5.84	0.93424	.	0.000000	0.50627	D	0.000105	T	0.03739	0.0106	L	0.50333	1.59	0.34473	D	0.703007	B;B	0.27380	0.173;0.177	B;B	0.17433	0.012;0.018	T	0.35525	-0.9785	10	0.26408	T	0.33	-19.4914	12.2699	0.54700	0.0:0.9212:0.0:0.0788	.	92;92	Q14147;B4E3G3	DHX34_HUMAN;.	V	92	ENSP00000331907:A92V	ENSP00000257252:A92V	A	+	2	0	DHX34	52548402	0.698000	0.27777	0.171000	0.22900	0.124000	0.20399	1.777000	0.38604	2.770000	0.95276	0.555000	0.69702	GCG		0.582	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		T	47856562	C	T	47856562	3	4	400	1	0	0	0	0	1	0	0	0	4509	768	27	1	277	1	DHX34	19	47856562	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08	37057293	47856562	11272421	66	22138											
ZFP28	140612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57065721	57065721	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr19:57065721C>A	ENST00000301318.3	+	8	1638	c.1567C>A	c.(1567-1569)Cac>Aac	p.H523N	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H523N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GCTTAATCAACACAGGAGAAT	0.423																																					Ovarian(124;554 1662 19430 21141 52494)											1	Substitution - Missense(1)	kidney(1)											67	59	62					19																	57065721		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1567C>A	19.37:g.57065721C>A	ENSP00000301318:p.His523Asn		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702564	0.68501	.	.	ENSG00000196867	ENST00000301318	D	0.86865	-2.18	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000202	D	0.95316	0.8480	H	0.95712	3.71	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	D	0.96705	0.9521	10	0.87932	D	0	.	16.0454	0.80717	0.0:1.0:0.0:0.0	.	523	Q8NHY6	ZFP28_HUMAN	N	523	ENSP00000301318:H523N	ENSP00000301318:H523N	H	+	1	0	ZFP28	61757533	0.998000	0.40836	0.913000	0.36048	0.994000	0.84299	4.136000	0.58004	2.390000	0.81377	0.650000	0.86243	CAC		0.423	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		A	57065721	C	A	57065721	3	1	400	1	0	0	0	0	1	0	0	0	17647	478	17	4	1597	4	ZFP28	19	57065721	Missense_Mutation	SNP	C	TCGA-BP-4989-01A-01D-1462-08	9209159	57065721	2063262	67	22139											
FLRT3	23767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	14307334	14307334	+	Silent	SNP	G	G	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr20:14307334G>C	ENST00000378053.3	-	2	1075	c.819C>G	c.(817-819)ctC>ctG	p.L273L	FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.L273L|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	273					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.L273L(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CCAGTCGATAGAGCTGCCTTA	0.403																																																1	Substitution - coding silent(1)	kidney(1)											48	50	50					20																	14307334		2203	4300	6503	SO:0001819	synonymous_variant	23767			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.819C>G	20.37:g.14307334G>C			D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	CCDS13121.1																																																																																				0.403	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		C	14307334	G	C	14307334	2	2	400	1	0	0	0	0	0	0	0	1	5942	929	33	4		4	FLRT3	20	14307334	Silent	SNP	G	TCGA-BP-4989-01A-01D-1462-08		14307334	48718186	68	22140											
BACH1	571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	30693729	30693729	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr21:30693729A>G	ENST00000399921.1	+	2	371	c.128A>G	c.(127-129)cAg>cGg	p.Q43R	BACH1_ENST00000286800.3_Missense_Mutation_p.Q43R	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q43R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GTGGAGGGACAGCGGTTCCGC	0.522																																																1	Substitution - Missense(1)	kidney(1)											147	119	129					21																	30693729		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.128A>G	21.37:g.30693729A>G	ENSP00000382805:p.Gln43Arg		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097814	0.37048	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.33	-2.55	0.06288	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.413864	0.25324	N	0.031496	T	0.37839	0.1018	N	0.05050	-0.12	0.26454	N	0.975565	B	0.16802	0.019	B	0.19666	0.026	T	0.28073	-1.0055	9	.	.	.	-3.6442	10.9707	0.47438	0.5912:0.0:0.4088:0.0	.	43	O14867	BACH1_HUMAN	R	43	ENSP00000286800:Q43R;ENSP00000382805:Q43R;ENSP00000400576:Q43R;ENSP00000408605:Q43R;ENSP00000392202:Q43R	.	Q	+	2	0	BACH1	29615600	0.017000	0.18338	0.113000	0.21522	0.754000	0.42855	0.492000	0.22435	-0.378000	0.07918	0.455000	0.32223	CAG		0.522	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		G	30693729	A	G	30693729	3	3	400	1	0	0	0	0	1	0	0	0	1283	188	7	3	130	3	BACH1	21	30693729	Missense_Mutation	SNP	A	TCGA-BP-4989-01A-01D-1462-08		30693729	17436166	69	22141											
KRTAP13-2	337959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	31744251	31744251	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr21:31744251G>A	ENST00000399889.2	-	1	306	c.281C>T	c.(280-282)aCg>aTg	p.T94M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	94	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.T94M(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGAGTAAGTCGTCTTGCAAGG	0.617																																																1	Substitution - Missense(1)	kidney(1)											62	61	62					21																	31744251		2203	4300	6503	SO:0001583	missense	337959			AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"Keratin associated proteins"	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.281C>T	21.37:g.31744251G>A	ENSP00000382777:p.Thr94Met			Missense_Mutation	SNP	ENST00000399889.2	37	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504543	0.44558	.	.	ENSG00000182816	ENST00000399889	T	0.03663	3.85	4.57	-5.79	0.02354	.	0.716625	0.11867	N	0.521762	T	0.04363	0.0120	M	0.64997	1.995	0.09310	N	1	D	0.56035	0.974	P	0.46237	0.508	T	0.02966	-1.1088	10	0.59425	D	0.04	.	1.8824	0.03231	0.3431:0.3485:0.1882:0.1202	.	94	Q52LG2	KR132_HUMAN	M	94	ENSP00000382777:T94M	ENSP00000382777:T94M	T	-	2	0	KRTAP13-2	30666122	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-0.412000	0.07132	-1.134000	0.02899	0.655000	0.94253	ACG		0.617	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			A	31744251	G	A	31744251	3	1	400	1	0	0	0	0	1	0	0	0	8525	1145	40	1	250	1	KRTAP13-2	21	31744251	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08	1050522	31744251	16385644	70	22142											
BRWD1	54014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	40590148	40590148	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr21:40590148A>G	ENST00000333229.2	-	31	3916	c.3589T>C	c.(3589-3591)Tac>Cac	p.Y1197H	BRWD1_ENST00000380800.3_Missense_Mutation_p.Y1197H|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000342449.3_Missense_Mutation_p.Y1197H	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1197	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y1197H(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAGTACAGTACTTCGGGTAT	0.373																																					Melanoma(170;988 1986 4794 16843 39731)											2	Substitution - Missense(2)	kidney(2)											111	109	109					21																	40590148		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3589T>C	21.37:g.40590148A>G	ENSP00000330753:p.Tyr1197His		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.545764|4.545764	0.86022|0.86022	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.69685	.|-0.42;-0.42;-0.42	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Bromodomain (5);	.|0.000000	.|0.64402	.|D	.|0.000008	D|D	0.89670|0.89670	0.6782|0.6782	H|H	0.99347|0.99347	4.525|4.525	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.97110	.|1.0;0.983;1.0	D|D	0.93976|0.93976	0.7254|0.7254	5|10	.|0.87932	.|D	.|0	-4.6286|-4.6286	15.7049|15.7049	0.77569|0.77569	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1197;1197;1197	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	A|H	182|1197;1197;1197;201	.|ENSP00000330753:Y1197H;ENSP00000344333:Y1197H;ENSP00000370178:Y1197H	.|ENSP00000330753:Y1197H	V|Y	-|-	2|1	0|0	BRWD1|BRWD1	39512018|39512018	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.823000|0.823000	0.46562|0.46562	8.792000|8.792000	0.91856|0.91856	2.120000|2.120000	0.65058|0.65058	0.379000|0.379000	0.24179|0.24179	GTA|TAC		0.373	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		G	40590148	A	G	40590148	3	3	400	1	0	0	0	0	1	0	0	0	1527	391	14	3	3660	3	BRWD1	21	40590148	Missense_Mutation	SNP	A	TCGA-BP-4989-01A-01D-1462-08	8845897	40590148	7539747	71	22143											
OTUD6A	139562	broad.mit.edu	37	X	69282742	69282742	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chrX:69282742G>T	ENST00000338352.2	+	1	402	c.368G>T	c.(367-369)gGc>gTc	p.G123V		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	123					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.G123V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CACCTGGCCGGCTTCAAGCGC	0.637																																																1	Substitution - Missense(1)	kidney(1)											24	19	21					X																	69282742		2180	4270	6450	SO:0001583	missense	139562			AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"OTU domain containing"	32312	protein-coding gene	gene with protein product		300714	"OTU domain containing 6A"			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.368G>T	X.37:g.69282742G>T	ENSP00000339389:p.Gly123Val		B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589266	0.46214	.	.	ENSG00000189401	ENST00000338352	T	0.46063	0.88	4.2	1.36	0.22044	.	0.487586	0.23219	N	0.050590	T	0.41073	0.1143	L	0.57536	1.79	0.23336	N	0.997883	P	0.49358	0.923	P	0.47376	0.545	T	0.25779	-1.0122	10	0.52906	T	0.07	.	6.9802	0.24698	0.1024:0.3377:0.56:0.0	.	123	Q7L8S5	OTU6A_HUMAN	V	123	ENSP00000339389:G123V	ENSP00000339389:G123V	G	+	2	0	OTUD6A	69199467	0.196000	0.23350	0.000000	0.03702	0.000000	0.00434	2.386000	0.44380	0.157000	0.19338	-0.283000	0.09986	GGC		0.637	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		T	69282742	G	T	69282742	3	4	400	1	0	0	0	0	1	0	0	0	11318	1203	42	4	370	4	OTUD6A	23	69282742	Missense_Mutation	SNP	G	TCGA-BP-4989-01A-01D-1462-08		69282742	85987818	72	22144											
MORC4	79710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	106186437	106186437	+	Splice_Site	SNP	T	T	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chrX:106186437T>A	ENST00000355610.4	-	15	1960		c.e15-2		MORC4_ENST00000255495.7_Splice_Site|MORC4_ENST00000535534.1_Splice_Site	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4							nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.?(2)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TTGTACTTACTGCAAGAAGAG	0.423																																																2	Unknown(2)	kidney(2)											61	63	63					X																	106186437		2200	4295	6495	SO:0001630	splice_region_variant	79710			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1686-2A>T	X.37:g.106186437T>A			A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Splice_Site	SNP	ENST00000355610.4	37	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	T	13.93	2.382494	0.42207	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4803	0.44689	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MORC4	106073093	1.000000	0.71417	0.947000	0.38551	0.883000	0.51084	4.026000	0.57232	1.743000	0.51761	0.441000	0.28932	.		0.423	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657	Intron	A	106186437	T	A	106186437	5	1	400	1	0	0	0	0	0	0	1	0	9706	1594	55	5	1141	5	MORC4	23	106186437	Splice_Site	SNP	T	TCGA-BP-4989-01A-01D-1462-08	36903695	106186437	49084123	73	22145											
LONRF3	79836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	118140161	118140161	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chrX:118140161A>G	ENST00000371628.3	+	6	1524	c.1493A>G	c.(1492-1494)aAc>aGc	p.N498S	LONRF3_ENST00000304778.7_Missense_Mutation_p.N457S|LONRF3_ENST00000422289.2_Missense_Mutation_p.N242S|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	498							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.N457S(1)|p.N498S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTAGATCACAACGCAAAGTGT	0.348																																																2	Substitution - Missense(2)	kidney(2)											225	208	214					X																	118140161		2203	4300	6503	SO:0001583	missense	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1493A>G	X.37:g.118140161A>G	ENSP00000360690:p.Asn498Ser		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.346669	0.41599	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.68	5.68	0.88126	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.07683	0.0193	N	0.02685	-0.53	0.49130	D	0.999755	B;B;P	0.42123	0.392;0.094;0.771	B;B;B	0.41135	0.241;0.108;0.348	T	0.29518	-1.0009	10	0.06625	T	0.88	-38.807	13.9895	0.64357	1.0:0.0:0.0:0.0	.	242;457;498	B3KUN7;Q496Y0-2;Q496Y0	.;.;LONF3_HUMAN	S	457;457;498;242	ENSP00000360691:N457S;ENSP00000307732:N457S;ENSP00000360690:N498S;ENSP00000408894:N242S	ENSP00000307732:N457S	N	+	2	0	LONRF3	118024189	1.000000	0.71417	0.889000	0.34880	0.983000	0.72400	6.118000	0.71583	1.901000	0.55032	0.481000	0.45027	AAC		0.348	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		G	118140161	A	G	118140161	3	3	400	1	0	0	0	0	1	0	0	0	8898	43	2	3	1515	3	LONRF3	23	118140161	Missense_Mutation	SNP	A	TCGA-BP-4989-01A-01D-1462-08	11953724	118140161	37130399	74	22146											
FRMD7	90167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	131212433	131212433	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chrX:131212433T>G	ENST00000298542.4	-	12	1787	c.1612A>C	c.(1612-1614)Atc>Ctc	p.I538L	FRMD7_ENST00000464296.1_Missense_Mutation_p.I523L|FRMD7_ENST00000370879.1_Missense_Mutation_p.I418L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	538					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.I538L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTCATTCTGATATTCCTTGGG	0.483																																																1	Substitution - Missense(1)	kidney(1)											168	162	164					X																	131212433		2203	4300	6503	SO:0001583	missense	90167			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1612A>C	X.37:g.131212433T>G	ENSP00000298542:p.Ile538Leu		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	8.655	0.899060	0.17686	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.85955	-2.05;-1.71;-1.82	5.27	-1.15	0.09709	.	0.848079	0.10574	N	0.658813	T	0.67674	0.2918	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.50693	-0.8798	10	0.23891	T	0.37	.	1.9857	0.03436	0.1103:0.1884:0.2222:0.4791	.	523;538	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	L	418;538;523	ENSP00000359916:I418L;ENSP00000298542:I538L;ENSP00000417996:I523L	ENSP00000298542:I538L	I	-	1	0	FRMD7	131040114	0.000000	0.05858	0.754000	0.31244	0.951000	0.60555	-0.826000	0.04429	0.057000	0.16193	0.486000	0.48141	ATC		0.483	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		G	131212433	T	G	131212433	3	3	400	1	0	0	0	0	1	0	0	0	6057	1406	49	5	536	5	FRMD7	23	131212433	Missense_Mutation	SNP	T	TCGA-BP-4989-01A-01D-1462-08	13072272	131212433	24058127	75	22147											
NOL9	79707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	6592628	6592628	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:6592628G>T	ENST00000377705.5	-	8	1462	c.1430C>A	c.(1429-1431)gCt>gAt	p.A477D		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	477					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)	p.A477D(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AAATTCCAAAGCATCTGCAAA	0.413																																																1	Substitution - Missense(1)	kidney(1)											151	154	153					1																	6592628		2203	4300	6503	SO:0001583	missense	79707			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1430C>A	1.37:g.6592628G>T	ENSP00000366934:p.Ala477Asp		Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547811	0.45383	.	.	ENSG00000162408	ENST00000377705	T	0.46063	0.88	5.67	-10.6	0.00265	Pre-mRNA cleavage complex II Clp1 (1);	1.072830	0.07152	N	0.849205	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.13872	-1.0493	10	0.15952	T	0.53	-5.2342	7.314	0.26491	0.0845:0.5151:0.1793:0.221	.	477	Q5SY16	NOL9_HUMAN	D	477	ENSP00000366934:A477D	ENSP00000366934:A477D	A	-	2	0	NOL9	6515215	0.000000	0.05858	0.000000	0.03702	0.442000	0.32017	-2.121000	0.01322	-2.016000	0.00945	-0.397000	0.06425	GCT		0.413	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		T	6592628	G	T	6592628	3	4	401	1	0	0	0	0	1	0	0	0	10530	971	34	4	698	4	NOL9	1	6592628	Missense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08		6592628	242657993	1	22148											
RNF19B	127544	hgsc.bcm.edu;ucsc.edu	37	1	33402518	33402518	+	Frame_Shift_Del	DEL	G	G	-	rs201577562		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:33402518delG	ENST00000373456.7	-	9	2087	c.2088delC	c.(2086-2088)cccfs	p.P696fs	RNF19B_ENST00000235150.4_Frame_Shift_Del_p.P695fs|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	696					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGGGGTCGAGGGGCAGGCTG	0.592																																																0																																										SO:0001589	frameshift_variant	127544			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.2088delC	1.37:g.33402518delG	ENSP00000362555:p.Pro696fs		B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Frame_Shift_Del	DEL	ENST00000373456.7	37	CCDS372.2																																																																																				0.592	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		-	33402518	G	-	33402518	7	5	401	1	0	1	0	1	0	0	0	0	13477	987	35	0	114	0	RNF19B	1	33402518	Frame_Shift_Del	DEL	G	TCGA-BP-4991-01A-01D-1462-08	26809890	33402518	215848103	2	22149											
GJA5	2702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	147230622	147230622	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:147230622C>T	ENST00000271348.2	-	2	886	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	GJA5_ENST00000369237.1_Missense_Mutation_p.R242Q|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	242					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.R242Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CATGTGCTGCCGCGGTTTGAC	0.572																																																1	Substitution - Missense(1)	kidney(1)											57	61	59					1																	147230622		2203	4300	6503	SO:0001583	missense	2702				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.725G>A	1.37:g.147230622C>T	ENSP00000271348:p.Arg242Gln		Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	6.210	0.406812	0.11754	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97811	-4.51;-4.51;-4.55	5.68	-5.09	0.02920	.	3.468090	0.00447	N	0.000087	D	0.86543	0.5958	L	0.29908	0.895	0.09310	N	1	B	0.18741	0.03	B	0.08055	0.003	D	0.87961	0.2730	10	0.13470	T	0.59	.	6.819	0.23847	0.0:0.4313:0.1955:0.3732	.	242	P36382	CXA5_HUMAN	Q	242	ENSP00000271348:R242Q;ENSP00000358240:R242Q;ENSP00000407645:R242Q	ENSP00000271348:R242Q	R	-	2	0	GJA5	145697246	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.121000	0.10643	-1.401000	0.02058	0.563000	0.77884	CGG		0.572	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		T	147230622	C	T	147230622	3	4	401	1	0	0	0	0	1	0	0	0	6406	652	23	1	355	1	GJA5	1	147230622	Missense_Mutation	SNP	C	TCGA-BP-4991-01A-01D-1462-08	113828104	147230622	102019999	3	22150											
FCRL1	115350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157767975	157767975	+	Missense_Mutation	SNP	G	G	T	rs150869330		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:157767975G>T	ENST00000368176.3	-	8	1157	c.1090C>A	c.(1090-1092)Cag>Aag	p.Q364K	FCRL1_ENST00000358292.3_Missense_Mutation_p.Q325K|FCRL1_ENST00000491942.1_Missense_Mutation_p.Q364K|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	364						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q364K(1)|p.Q325K(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCTGTAGCTGCCCTGGGGTA	0.498																																					GBM(54;482 1003 11223 30131 35730)											2	Substitution - Missense(2)	kidney(2)											102	97	98					1																	157767975		2203	4300	6503	SO:0001583	missense	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1090C>A	1.37:g.157767975G>T	ENSP00000357158:p.Gln364Lys		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316426	0.23908	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.41400	1.0;1.26;1.27	4.79	1.62	0.23740	.	1.737650	0.04129	N	0.317616	T	0.17408	0.0418	M	0.65975	2.015	0.09310	N	1	B;B;B	0.22146	0.037;0.065;0.022	B;B;B	0.17433	0.018;0.017;0.008	T	0.11817	-1.0572	10	0.22706	T	0.39	.	2.9404	0.05828	0.0986:0.1801:0.5353:0.1859	.	325;364;364	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	K	325;364;364	ENSP00000351039:Q325K;ENSP00000357158:Q364K;ENSP00000418130:Q364K	ENSP00000351039:Q325K	Q	-	1	0	FCRL1	156034599	0.148000	0.22702	0.001000	0.08648	0.001000	0.01503	1.540000	0.36115	0.703000	0.31848	0.591000	0.81541	CAG		0.498	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		T	157767975	G	T	157767975	3	4	401	1	0	0	0	0	1	0	0	0	5796	1328	46	4	281	4	FCRL1	1	157767975	Missense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08	10537353	157767975	91482646	4	22151											
DSTYK	25778	hgsc.bcm.edu;ucsc.edu	37	1	205129247	205129247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:205129247delA	ENST00000367162.3	-	8	2130	c.2100delT	c.(2098-2100)tatfs	p.Y700fs	DSTYK_ENST00000367161.3_Frame_Shift_Del_p.Y700fs|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	700	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CCCACCTCATATAGTGAAATT	0.473																																																0													142	144	143					1																	205129247		2203	4300	6503	SO:0001589	frameshift_variant	25778			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2100delT	1.37:g.205129247delA	ENSP00000356130:p.Tyr700fs		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Frame_Shift_Del	DEL	ENST00000367162.3	37	CCDS1451.1																																																																																				0.473	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		-	205129247	A	-	205129247	7	5	401	1	0	1	0	1	0	0	0	0	4787	456	16	0	713	0	DSTYK	1	205129247	Frame_Shift_Del	DEL	A	TCGA-BP-4991-01A-01D-1462-08	47361272	205129247	44121374	5	22152											
WDR26	80232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	224599175	224599175	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr1:224599175G>T	ENST00000414423.2	-	7	1305	c.1112C>A	c.(1111-1113)gCa>gAa	p.A371E	WDR26_ENST00000295024.6_Missense_Mutation_p.A224E|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	371						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A371E(1)|p.A224E(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TGATCCTGTTGCTAGTTTAGT	0.368																																																2	Substitution - Missense(2)	kidney(2)											147	127	134					1																	224599175		2203	4300	6503	SO:0001583	missense	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1112C>A	1.37:g.224599175G>T	ENSP00000408108:p.Ala371Glu		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.327773|5.327773	0.95733|0.95733	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	T;T|.	0.70399|.	-0.48;-0.48|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90762|0.90762	0.7100|0.7100	H|H	0.97962|0.97962	4.115|4.115	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93819|0.93819	0.7117|0.7117	10|5	0.87932|.	D|.	0|.	.|.	19.5912|19.5912	0.95511|0.95511	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	355|.	Q9H7D7-2|.	.|.	E|R	371;224|4	ENSP00000408108:A371E;ENSP00000295024:A224E|.	ENSP00000295024:A224E|.	A|S	-|-	2|3	0|2	WDR26|WDR26	222665798|222665798	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.809000|9.809000	0.99208|0.99208	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.368	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		T	224599175	G	T	224599175	3	4	401	1	0	0	0	0	1	0	0	0	17288	1319	46	4	905	4	WDR26	1	224599175	Missense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08	19469928	224599175	24651446	6	22153											
RGPD3	653489	broad.mit.edu	37	2	107049575	107049575	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr2:107049575C>T	ENST00000409886.3	-	16	2459	c.2372G>A	c.(2371-2373)aGt>aAt	p.S791N	RGPD3_ENST00000304514.7_Missense_Mutation_p.S791N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	791					protein targeting to Golgi (GO:0000042)			p.S791N(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTAACTTTTACTTGGTGATAG	0.303																																																2	Substitution - Missense(2)	kidney(2)											1	2	2					2																	107049575		470	1073	1543	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2372G>A	2.37:g.107049575C>T	ENSP00000386588:p.Ser791Asn		B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	2.330	-0.353601	0.05173	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	1.43	0.22495	.	.	.	.	.	T	0.14227	0.0344	N	0.17474	0.49	0.22666	N	0.998874	B	0.09022	0.002	B	0.06405	0.002	T	0.24799	-1.0150	9	0.37606	T	0.19	-2.9208	6.7807	0.23643	0.0:0.8425:0.0:0.1575	.	791	A6NKT7	RGPD3_HUMAN	N	791;549;791	ENSP00000386588:S791N;ENSP00000303659:S791N	ENSP00000303659:S791N	S	-	2	0	RGPD3	106416007	0.982000	0.34865	0.998000	0.56505	0.121000	0.20230	0.145000	0.16157	0.315000	0.23110	0.173000	0.16961	AGT		0.303	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		T	107049575	C	T	107049575	3	4	401	1	0	0	0	0	1	0	0	0	13293	565	20	2	2936	2	RGPD3	2	107049575	Missense_Mutation	SNP	C	TCGA-BP-4991-01A-01D-1462-08		107049575	136149798	7	22154											
GLI2	2736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	121742131	121742131	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr2:121742131G>T	ENST00000452319.1	+	12	1828	c.1768G>T	c.(1768-1770)Ggc>Tgc	p.G590C	GLI2_ENST00000361492.4_Missense_Mutation_p.G590C|GLI2_ENST00000314490.11_Missense_Mutation_p.G262C|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2									p.G590C(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AACGGTCCACGGCCCAGATGC	0.597																																																1	Substitution - Missense(1)	kidney(1)											145	135	139					2																	121742131		2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1768G>T	2.37:g.121742131G>T	ENSP00000390436:p.Gly590Cys			Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717933	0.89205	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.21361	2.01;2.01;4.38	4.75	4.75	0.60458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.994	T	0.55630	-0.8111	10	0.87932	D	0	.	17.9464	0.89040	0.0:0.0:1.0:0.0	.	590;573;245;245;262	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	C	590;590;262	ENSP00000390436:G590C;ENSP00000354586:G590C;ENSP00000312694:G262C	ENSP00000312694:G262C	G	+	1	0	GLI2	121458601	1.000000	0.71417	0.992000	0.48379	0.876000	0.50452	9.648000	0.98483	2.451000	0.82905	0.561000	0.74099	GGC		0.597	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		T	121742131	G	T	121742131	3	4	401	1	0	0	0	0	1	0	0	0	6440	1116	39	4	1810	4	GLI2	2	121742131	Missense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08	14692556	121742131	121457242	8	22155											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188215	10188226	+	In_Frame_Del	DEL	AGAGATGCAGGG	AGAGATGCAGGG	-	rs5030832		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	AGAGATGCAGGG	AGAGATGCAGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr3:10188215_10188226delAGAGATGCAGGG	ENST00000256474.2	+	2	1198_1209	c.358_369delAGAGATGCAGGG	c.(358-369)agagatgcagggdel	p.RDAG120del	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	120	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.D121Y(6)|p.D121G(3)|p.T124fs*35(2)|p.D121fs*38(2)|p.D121E(2)|p.A122E(2)|p.T124_H125>H(1)|p.G123fs*8(1)|p.R120G(1)|p.?(1)|p.D121_A122del(1)|p.G123W(1)|p.R120S(1)|p.F119fs*11(1)|p.A122fs*7(1)|p.D121*(1)|p.R120fs*38(1)|p.R120fs*39(1)|p.R120*(1)|p.R120fs*34(1)|p.R120fs*10(1)|p.L118_G123>P(1)|p.D121D(1)|p.D121fs*11(1)|p.D121fs*10(1)|p.D121fs*35(1)|p.D121fs*12(1)|p.W117fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTGGCTCTTCAGAGATGCAGGGACACACGATG	0.509		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	39	Substitution - Missense(16)|Deletion - Frameshift(14)|Insertion - Frameshift(2)|Substitution - Nonsense(2)|Complex - deletion inframe(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	kidney(36)|adrenal_gland(1)|lung(1)|pancreas(1)	GRCh37	CD003110|CD962176|CI951985|CM014753|CM056724|CM941374|CP025188	VHL	D|I|M|X	rs5030832																																			SO:0001651	inframe_deletion	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.358_369delAGAGATGCAGGG	3.37:g.10188215_10188226delAGAGATGCAGGG	ENSP00000256474:p.Arg120_Gly123del		B2RE45|Q13599|Q6PDA9	In_Frame_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.509	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188226	AGAGATGCAGGG	-	10188215	7	5	401	1	0	1	0	1	0	0	0	0	17167	180	7	0	364	0	VHL	3	10188215	In_Frame_Del	DEL	AGAGATGCAGGG	TCGA-BP-4991-01A-01D-1462-08		10188215	187834215	9	22156											
CC2D2A	57545	broad.mit.edu;hgsc.bcm.edu	37	4	15511767	15511767	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr4:15511767G>A	ENST00000503292.1	+	8	624	c.444G>A	c.(442-444)ggG>ggA	p.G148G	CC2D2A_ENST00000424120.1_Silent_p.G148G|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Silent_p.G99G|CC2D2A_ENST00000413206.1_Silent_p.G148G	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	148					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.G99G(1)|p.G148G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TATAGCCAGGGAAAGAGGTAG	0.408																																																2	Substitution - coding silent(2)	kidney(2)											90	82	85					4																	15511767		1845	4090	5935	SO:0001819	synonymous_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.444G>A	4.37:g.15511767G>A			A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	CCDS47026.1																																																																																				0.408	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		A	15511767	G	A	15511767	2	1	401	1	0	0	0	0	0	0	0	1	2730	1161	41	2		2	CC2D2A	4	15511767	Silent	SNP	G	TCGA-BP-4991-01A-01D-1462-08		15511767	175642509	10	22157											
SLC7A11	23657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	139100476	139100476	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr4:139100476G>T	ENST00000280612.5	-	11	1618	c.1339C>A	c.(1339-1341)Cca>Aca	p.P447T	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	447					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)	p.P447T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GTACTAAATGGGTCCGAATAG	0.443																																																1	Substitution - Missense(1)	kidney(1)											97	91	93					4																	139100476		2203	4300	6503	SO:0001583	missense	23657			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1339C>A	4.37:g.139100476G>T	ENSP00000280612:p.Pro447Thr		A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073274	0.36566	.	.	ENSG00000151012	ENST00000280612	D	0.89343	-2.5	5.27	5.27	0.74061	.	0.050519	0.85682	D	0.000000	D	0.93986	0.8074	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.93055	0.6469	10	0.37606	T	0.19	.	18.8964	0.92424	0.0:0.0:1.0:0.0	.	447	Q9UPY5	XCT_HUMAN	T	447	ENSP00000280612:P447T	ENSP00000280612:P447T	P	-	1	0	SLC7A11	139319926	1.000000	0.71417	0.874000	0.34290	0.243000	0.25628	9.456000	0.97628	2.443000	0.82685	0.655000	0.94253	CCA		0.443	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			T	139100476	G	T	139100476	3	4	401	1	0	0	0	0	1	0	0	0	14700	1232	43	4	174	4	SLC7A11	4	139100476	Missense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08	123588709	139100476	52053800	11	22158											
HEATR7B2	133558	hgsc.bcm.edu	37	5	41052635	41052635	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr5:41052635C>G	ENST00000399564.4	-	12	1612	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	388																	TCCCGAGCTTCAATATAGGAC	0.408																																																0													92	86	88					5																	41052635		1873	4097	5970	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1162G>C	5.37:g.41052635C>G	ENSP00000382476:p.Glu388Gln		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367638	0.82463	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.08984	3.03	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.53938	D	0.000046	T	0.27629	0.0679	M	0.72118	2.19	0.35063	D	0.761749	D	0.76494	0.999	D	0.83275	0.996	T	0.15694	-1.0428	10	0.38643	T	0.18	.	14.9502	0.71067	0.0:1.0:0.0:0.0	.	388	Q7Z745	HTRB2_HUMAN	Q	92;388	ENSP00000382476:E388Q	ENSP00000296803:E92Q	E	-	1	0	HEATR7B2	41088392	0.988000	0.35896	0.992000	0.48379	0.993000	0.82548	3.525000	0.53502	2.586000	0.87340	0.655000	0.94253	GAA		0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		G	41052635	C	G	41052635	3	3	401	1	0	0	0	0	1	0	0	0	7037	835	29	4	3719	4	HEATR7B2	5	41052635	Missense_Mutation	SNP	C	TCGA-BP-4991-01A-01D-1462-08		41052635	139862625	12	22159											
SLC27A6	28965	broad.mit.edu;hgsc.bcm.edu	37	5	128302249	128302249	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr5:128302249G>T	ENST00000262462.4	+	1	1429	c.419G>T	c.(418-420)cGc>cTc	p.R140L	SLC27A6_ENST00000395266.1_Missense_Mutation_p.R140L|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R140L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	140					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R140L(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ACCAACATTCGCTCCAACTCC	0.597																																																1	Substitution - Missense(1)	kidney(1)											63	44	51					5																	128302249		2203	4300	6503	SO:0001583	missense	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.419G>T	5.37:g.128302249G>T	ENSP00000262462:p.Arg140Leu		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587273	0.46110	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.50813	0.73;0.73;0.73	4.18	2.38	0.29361	AMP-dependent synthetase/ligase (1);	0.207319	0.47455	D	0.000230	T	0.66257	0.2771	M	0.92219	3.285	0.30861	N	0.733568	P	0.42010	0.768	P	0.52217	0.693	T	0.71344	-0.4621	10	0.87932	D	0	-3.9701	9.5221	0.39143	0.0764:0.0:0.7811:0.1425	.	140	Q9Y2P4	S27A6_HUMAN	L	140	ENSP00000262462:R140L;ENSP00000378684:R140L;ENSP00000421024:R140L	ENSP00000262462:R140L	R	+	2	0	SLC27A6	128330148	0.771000	0.28555	0.006000	0.13384	0.290000	0.27261	1.636000	0.37144	0.704000	0.31869	0.561000	0.74099	CGC		0.597	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		T	128302249	G	T	128302249	3	4	401	1	0	0	0	0	1	0	0	0	14536	1087	38	4	421	4	SLC27A6	5	128302249	Missense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08	87249614	128302249	52613011	13	22160											
ADAMTS19	171019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	129070698	129070698	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr5:129070698G>T	ENST00000274487.4	+	22	3513	c.3368G>T	c.(3367-3369)gGa>gTa	p.G1123V	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1123	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G1123V(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGAAGACATGGAAATGAATGT	0.408																																																1	Substitution - Missense(1)	kidney(1)											117	116	116					5																	129070698		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3368G>T	5.37:g.129070698G>T	ENSP00000274487:p.Gly1123Val			Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481122	0.84747	.	.	ENSG00000145808	ENST00000274487	T	0.65178	-0.14	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000011	T	0.76637	0.4015	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76069	-0.3094	9	.	.	.	.	17.9861	0.89156	0.0:0.0:1.0:0.0	.	1123	Q8TE59	ATS19_HUMAN	V	1123	ENSP00000274487:G1123V	.	G	+	2	0	ADAMTS19	129098597	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.915000	0.92740	2.661000	0.90470	0.585000	0.79938	GGA		0.408	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		T	129070698	G	T	129070698	3	4	401	1	0	0	0	0	1	0	0	0	264	1174	41	4	3454	4	ADAMTS19	5	129070698	Missense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08	768449	129070698	51844562	14	22161											
SGCD	6444	broad.mit.edu;ucsc.edu	37	5	156074477	156074477	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr5:156074477C>T	ENST00000435422.3	+	6	990	c.503C>T	c.(502-504)gCg>gTg	p.A168V	SGCD_ENST00000447401.1_Missense_Mutation_p.A169V|SGCD_ENST00000337851.4_Missense_Mutation_p.A169V|SGCD_ENST00000517913.1_Missense_Mutation_p.A169V	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	168					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.A169V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTACAGGAGCGGAGGGCACA	0.433																																																1	Substitution - Missense(1)	kidney(1)											95	89	91					5																	156074477		1927	4133	6060	SO:0001583	missense	6444			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.503C>T	5.37:g.156074477C>T	ENSP00000403003:p.Ala168Val		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636998	0.67130	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.71	5.71	0.89125	.	0.101427	0.64402	D	0.000002	D	0.95124	0.8420	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	0.994;0.992;1.0	P;P;D	0.80764	0.734;0.615;0.994	D	0.93986	0.7262	10	0.30854	T	0.27	-12.6482	18.0384	0.89312	0.0:1.0:0.0:0.0	.	168;169;169	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	V	169;168;169;169	ENSP00000429378:A169V;ENSP00000403003:A168V;ENSP00000338343:A169V;ENSP00000408324:A169V	ENSP00000338343:A169V	A	+	2	0	SGCD	156007055	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	5.557000	0.67313	2.687000	0.91594	0.655000	0.94253	GCG		0.433	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			T	156074477	C	T	156074477	3	4	401	1	0	0	0	0	1	0	0	0	14207	768	27	1	528	1	SGCD	5	156074477	Missense_Mutation	SNP	C	TCGA-BP-4991-01A-01D-1462-08	27003779	156074477	24840783	15	22162											
C6orf47	57827	broad.mit.edu;hgsc.bcm.edu	37	6	31627292	31627292	+	Silent	SNP	A	A	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr6:31627292A>G	ENST00000375911.1	-	1	1257	c.433T>C	c.(433-435)Ttg>Ctg	p.L145L	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	145						cytoplasm (GO:0005737)		p.L145L(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						GGTTTCTCCAATGGGGCTCCT	0.627																																																1	Substitution - coding silent(1)	kidney(1)											59	69	66					6																	31627292		1510	2709	4219	SO:0001819	synonymous_variant	57827			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.433T>C	6.37:g.31627292A>G			B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Silent	SNP	ENST00000375911.1	37	CCDS34399.1																																																																																				0.627	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		G	31627292	A	G	31627292	2	3	401	1	0	0	0	0	0	0	0	1	2366	98	4	3		3	C6orf47	6	31627292	Silent	SNP	A	TCGA-BP-4991-01A-01D-1462-08		31627292	139487775	16	22163											
TRRAP	8295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	98547298	98547298	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr7:98547298G>T	ENST00000359863.4	+	36	5157	c.4948G>T	c.(4948-4950)Gtg>Ttg	p.V1650L	TRRAP_ENST00000446306.3_Missense_Mutation_p.V1631L|TRRAP_ENST00000355540.3_Missense_Mutation_p.V1632L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1650					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.V1632L(1)|p.V1650L(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCATTATAGTGAAAAACGA	0.527																																																2	Substitution - Missense(2)	kidney(2)											41	44	43					7																	98547298		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4948G>T	7.37:g.98547298G>T	ENSP00000352925:p.Val1650Leu		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.48|16.48	3.136400|3.136400	0.56936|0.56936	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.64618|.	-0.11;-0.11|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.065125|.	0.64402|.	D|.	0.000011|.	T|.	0.58133|.	0.2101|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28082|.	0.2;0.039;0.033|.	B;B;B|.	0.21360|.	0.034;0.012;0.015|.	T|.	0.50725|.	-0.8794|.	10|.	0.20519|.	T|.	0.43|.	.|.	19.8413|19.8413	0.96690|0.96690	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1632;1371;1650|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	L|Y	1650;1632;1630|1371	ENSP00000352925:V1650L;ENSP00000347733:V1632L|.	ENSP00000347733:V1632L|.	V|X	+|+	1|3	0|2	TRRAP|TRRAP	98385234|98385234	1.000000|1.000000	0.71417|0.71417	0.481000|0.481000	0.27354|0.27354	0.830000|0.830000	0.47004|0.47004	9.807000|9.807000	0.99171|0.99171	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GTG|TAG		0.527	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		T	98547298	G	T	98547298	3	4	401	1	0	0	0	0	1	0	0	0	16606	1029	36	4	5028	4	TRRAP	7	98547298	Missense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08		98547298	60591365	17	22164											
SPAM1	6677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123594289	123594289	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr7:123594289C>T	ENST00000439500.1	+	4	1278	c.665C>T	c.(664-666)cCg>cTg	p.P222L	SPAM1_ENST00000223028.7_Missense_Mutation_p.P222L|SPAM1_ENST00000460182.1_Missense_Mutation_p.P222L|SPAM1_ENST00000402183.2_Missense_Mutation_p.P222L|SPAM1_ENST00000340011.5_Missense_Mutation_p.P222L	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	222					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.P222L(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TATCTTTTTCCGGATTGTTAC	0.363																																																2	Substitution - Missense(2)	kidney(2)											81	86	84					7																	123594289		2203	4300	6503	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.665C>T	7.37:g.123594289C>T	ENSP00000402123:p.Pro222Leu		Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424301	0.96111	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87273	0.6136	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90270	0.4307	9	.	.	.	-52.5414	19.8676	0.96824	0.0:1.0:0.0:0.0	.	222;222	Q8TC30;P38567	.;HYALP_HUMAN	L	222	ENSP00000386028:P222L;ENSP00000417934:P222L;ENSP00000345849:P222L;ENSP00000402123:P222L;ENSP00000223028:P222L	.	P	+	2	0	SPAM1	123381525	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCG		0.363	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			T	123594289	C	T	123594289	3	4	401	1	0	0	0	0	1	0	0	0	14992	652	23	1	667	1	SPAM1	7	123594289	Missense_Mutation	SNP	C	TCGA-BP-4991-01A-01D-1462-08	25046991	123594289	35544374	18	22165											
CNGB3	54714	hgsc.bcm.edu;ucsc.edu	37	8	87683239	87683244	+	In_Frame_Del	DEL	TCTTTG	TCTTTG	-			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	TCTTTG	TCTTTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr8:87683239_87683244delTCTTTG	ENST00000320005.5	-	4	468_473	c.421_426delCAAAGA	c.(421-426)caaagadel	p.QR141del		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	141					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Q141K(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGAGGGCTGTTCTTTGACGCATTCTT	0.466																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.421_426delCAAAGA	8.37:g.87683239_87683244delTCTTTG	ENSP00000316605:p.Gln141_Arg142del		C9JA51|Q9NRE9	In_Frame_Del	DEL	ENST00000320005.5	37	CCDS6244.1																																																																																				0.466	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		-	87683244	TCTTTG	-	87683239	7	5	401	1	0	1	0	1	0	0	0	0	3603	1780	62	0	2063	0	CNGB3	8	87683239	In_Frame_Del	DEL	TCTTTG	TCGA-BP-4991-01A-01D-1462-08		87683239	58680783	19	22166											
MEGF9	1955	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123476115	123476115	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr9:123476115G>A	ENST00000373930.3	-	1	633	c.522C>T	c.(520-522)acC>acT	p.T174T	MEGF9_ENST00000426959.1_Silent_p.T166T	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	174	Pro-rich.					integral component of membrane (GO:0016021)		p.T166T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GGAGATCGGGGGTCGGGGTCC	0.731																																																1	Substitution - coding silent(1)	kidney(1)											14	19	18					9																	123476115		1840	4041	5881	SO:0001819	synonymous_variant	1955			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.522C>T	9.37:g.123476115G>A			B7Z315|O75098	Silent	SNP	ENST00000373930.3	37	CCDS48010.2																																																																																				0.731	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		A	123476115	G	A	123476115	2	1	401	1	0	0	0	0	0	0	0	1	9466	1219	43	2		2	MEGF9	9	123476115	Silent	SNP	G	TCGA-BP-4991-01A-01D-1462-08		123476115	17737316	20	22167											
CREM	1390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	35495906	35495906	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr10:35495906G>A	ENST00000395895.2	+	9	1027	c.865G>A	c.(865-867)Gga>Aga	p.G289R	CREM_ENST00000484283.1_Missense_Mutation_p.G147R|CREM_ENST00000487763.1_Missense_Mutation_p.G49R|CREM_ENST00000474931.1_Missense_Mutation_p.G41R|CREM_ENST00000473940.1_Missense_Mutation_p.G49R|CREM_ENST00000479070.1_Missense_Mutation_p.G240R|CREM_ENST00000356917.5_Missense_Mutation_p.G37R|CREM_ENST00000439705.1_Missense_Mutation_p.G214R|CREM_ENST00000342105.3_Missense_Mutation_p.G173R|CREM_ENST00000474362.1_Missense_Mutation_p.G24R|CREM_ENST00000374721.3_Missense_Mutation_p.G198R|CREM_ENST00000463314.1_Missense_Mutation_p.G66R|CREM_ENST00000344351.5_Missense_Mutation_p.G24R|CREM_ENST00000488741.1_Missense_Mutation_p.G31R|CREM_ENST00000348787.2_Missense_Mutation_p.G149R|CREM_ENST00000374728.3_Missense_Mutation_p.G149R|CREM_ENST00000488328.1_Missense_Mutation_p.G37R|CREM_ENST00000463960.1_Missense_Mutation_p.G122R|CREM_ENST00000460270.1_Missense_Mutation_p.G24R|CREM_ENST00000354759.3_Missense_Mutation_p.G177R|CREM_ENST00000429130.3_Missense_Mutation_p.G273R|CREM_ENST00000395887.3_Missense_Mutation_p.G210R|CREM_ENST00000468236.1_Missense_Mutation_p.G53R|CREM_ENST00000333809.8_Missense_Mutation_p.G277R|CREM_ENST00000490511.1_Missense_Mutation_p.G41R|CREM_ENST00000345491.3_Missense_Mutation_p.G228R|CREM_ENST00000374734.3_Missense_Mutation_p.G165R|CREM_ENST00000337656.4_Missense_Mutation_p.G228R|CREM_ENST00000361599.4_Missense_Mutation_p.G198R			Q03060	CREM_HUMAN	cAMP responsive element modulator	289					cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G228R(1)|p.G210R(1)|p.G41R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TGCATCGCCCGGAAGTTTGCA	0.527																																																3	Substitution - Missense(3)	kidney(3)											109	107	108					10																	35495906		2203	4300	6503	SO:0001583	missense	1390				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"basic leucine zipper proteins"	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.865G>A	10.37:g.35495906G>A	ENSP00000379232:p.Gly289Arg		A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Missense_Mutation	SNP	ENST00000395895.2	37		.	.	.	.	.	.	.	.	.	.	G	15.89	2.965995	0.53507	.	.	ENSG00000095794	ENST00000474362;ENST00000460270;ENST00000354759;ENST00000345491;ENST00000395895;ENST00000374728;ENST00000487132;ENST00000333809;ENST00000439705;ENST00000374734;ENST00000337656;ENST00000479070;ENST00000462058;ENST00000429130;ENST00000489627;ENST00000493508;ENST00000490263;ENST00000374721;ENST00000348787;ENST00000374722;ENST00000361599;ENST00000484283;ENST00000395887;ENST00000494479;ENST00000463314;ENST00000342105;ENST00000463960;ENST00000487763;ENST00000473940;ENST00000488328;ENST00000356917;ENST00000488741;ENST00000474931;ENST00000468236;ENST00000344351;ENST00000490511	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58210	1.45;1.45;0.37;0.75;0.74;0.76;0.43;0.35;0.36;0.35;0.35;0.76;0.75;0.76;0.75;0.37;0.72;1.43;1.34;0.78;0.4;1.34;1.35;1.37;1.4;1.42;1.38;1.33;1.45;1.36	5.83	4.93	0.64822	.	0.217039	0.47455	D	0.000231	T	0.64170	0.2574	L	0.53249	1.67	0.50171	D	0.999858	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.89917	0.983;0.999;0.997;1.0;0.995;0.969;0.998;1.0;0.995;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.807	P;D;P;D;D;P;D;D;P;D;D;D;P;D;D;D;B	0.97110	0.579;0.928;0.854;1.0;0.918;0.552;0.952;0.977;0.791;1.0;0.995;0.996;0.895;0.986;1.0;1.0;0.356	T	0.61008	-0.7149	10	0.27082	T	0.32	-10.6775	10.4413	0.44466	0.0694:0.135:0.7956:0.0	.	41;41;31;37;37;49;49;277;289;173;147;198;165;228;149;228;177	A8K014;E9PAR4;A8K6A1;A8K3J7;Q03060-11;Q5W1B2;Q03060-10;Q03060-1;Q03060;Q03060-7;Q03060-13;Q03060-12;A8MPQ2;E9PHM1;Q5W1A7;Q03060-16;Q5W1B0	.;.;.;.;.;.;.;.;CREM_HUMAN;.;.;.;.;.;.;.;.	R	24;24;177;228;289;149;149;277;214;165;228;240;198;273;133;82;198;261;149;261;198;147;210;107;66;173;122;49;49;37;37;31;41;53;24;41	ENSP00000419018:G24R;ENSP00000420437:G24R;ENSP00000346804:G177R;ENSP00000265372:G228R;ENSP00000379232:G289R;ENSP00000363860:G149R;ENSP00000418798:G149R;ENSP00000333055:G277R;ENSP00000409220:G214R;ENSP00000363866:G165R;ENSP00000337138:G228R;ENSP00000420511:G240R;ENSP00000393538:G273R;ENSP00000345384:G149R;ENSP00000354593:G198R;ENSP00000417165:G147R;ENSP00000379225:G210R;ENSP00000417399:G107R;ENSP00000418336:G66R;ENSP00000341875:G173R;ENSP00000419684:G122R;ENSP00000417807:G49R;ENSP00000420681:G49R;ENSP00000417460:G37R;ENSP00000349387:G37R;ENSP00000419075:G31R;ENSP00000417562:G41R;ENSP00000419810:G53R;ENSP00000344365:G24R;ENSP00000417327:G41R	ENSP00000333055:G277R	G	+	1	0	CREM	35535912	1.000000	0.71417	0.612000	0.29024	0.204000	0.24138	5.149000	0.64863	1.451000	0.47736	0.655000	0.94253	GGA		0.527	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		A	35495906	G	A	35495906	3	1	401	1	0	0	0	0	1	0	0	0	3870	1117	39	1	956	1	CREM	10	35495906	Missense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08		35495906	100038841	21	22168											
FRMPD2	143162	broad.mit.edu;hgsc.bcm.edu	37	10	49420020	49420021	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr10:49420020_49420021CC>GT	ENST00000374201.3	-	13	1889_1890	c.1587_1588GG>AC	c.(1585-1590)gaGGat>gaACat	p.D530H	FRMPD2_ENST00000407470.4_Missense_Mutation_p.D498H|FRMPD2_ENST00000305531.3_Missense_Mutation_p.D505H	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	530	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.D530H(2)|p.E529E(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGCTCAGCATCCTCTCCCCACA	0.554																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1587_1588delinsGT	10.37:g.49420020_49420021delinsGT	ENSP00000363317:p.Asp530His		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation|Silent	SNP	ENST00000374201.3	37	CCDS31195.1																																																																																				0.554	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		GT	49420021	CC	GT	49420020	3	3	401	1	0	0	0	0	1	0	0	0	6060	855	30	4	2409	4	FRMPD2	10	49420020	Missense_Mutation	DNP	CC	TCGA-BP-4991-01A-01D-1462-08	13924114	49420020	86114727	22	22169											
OR51E1	143503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4674482	4674482	+	Silent	SNP	T	T	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr11:4674482T>G	ENST00000396952.5	+	2	1376	c.726T>G	c.(724-726)acT>acG	p.T242T	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T241T(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTTGGCACTTGCGTCTCTC	0.502																																																1	Substitution - coding silent(1)	kidney(1)											246	230	235					11																	4674482		2201	4298	6499	SO:0001819	synonymous_variant	143503			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.726T>G	11.37:g.4674482T>G			A8KAM6|Q5S4P5|Q66X57|Q6IF93	Silent	SNP	ENST00000396952.5	37	CCDS31358.2																																																																																				0.502	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		G	4674482	T	G	4674482	2	3	401	1	0	0	0	0	0	0	0	1	11096	1596	56	5		5	OR51E1	11	4674482	Silent	SNP	T	TCGA-BP-4991-01A-01D-1462-08		4674482	130332034	23	22170											
DSCAML1	57453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117352764	117352764	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr11:117352764C>A	ENST00000321322.6	-	12	2654	c.2653G>T	c.(2653-2655)Ggg>Tgg	p.G885W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G615W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	825	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.G885W(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACTGTGTCCCCCTTCTCCCAG	0.627																																																1	Substitution - Missense(1)	kidney(1)											171	120	137					11																	117352764		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2653G>T	11.37:g.117352764C>A	ENSP00000315465:p.Gly885Trp		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408663	0.83340	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.42131	0.98;0.98	3.89	3.89	0.44902	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56630	0.1998	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.62101	-0.6925	9	0.72032	D	0.01	.	16.1057	0.81220	0.0:1.0:0.0:0.0	.	825	Q8TD84	DSCL1_HUMAN	W	615;885;592	ENSP00000434335:G615W;ENSP00000315465:G885W	ENSP00000315465:G885W	G	-	1	0	DSCAML1	116857974	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.645000	0.83430	2.000000	0.58554	0.485000	0.47835	GGG		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		A	117352764	C	A	117352764	3	1	401	1	0	0	0	0	1	0	0	0	4771	623	22	4	3776	4	DSCAML1	11	117352764	Missense_Mutation	SNP	C	TCGA-BP-4991-01A-01D-1462-08	112678282	117352764	17653752	24	22171											
PLXNC1	10154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	94642074	94642074	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr12:94642074A>C	ENST00000258526.4	+	14	2913	c.2664A>C	c.(2662-2664)caA>caC	p.Q888H		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	888					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.Q888H(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAAATGGGCAATTAAATTGCA	0.333																																																1	Substitution - Missense(1)	kidney(1)											49	52	51					12																	94642074		2203	4300	6503	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2664A>C	12.37:g.94642074A>C	ENSP00000258526:p.Gln888His		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180267	0.38511	.	.	ENSG00000136040	ENST00000258526	T	0.08102	3.13	5.65	-1.04	0.10068	Cell surface receptor IPT/TIG (1);	1.597280	0.03013	N	0.149728	T	0.07098	0.0180	N	0.22421	0.69	0.09310	N	0.999999	B	0.33448	0.412	B	0.34722	0.188	T	0.36962	-0.9726	10	0.54805	T	0.06	.	5.7528	0.18156	0.3258:0.284:0.3901:0.0	.	888	O60486	PLXC1_HUMAN	H	888	ENSP00000258526:Q888H	ENSP00000258526:Q888H	Q	+	3	2	PLXNC1	93166205	0.000000	0.05858	0.258000	0.24420	0.912000	0.54170	0.023000	0.13533	0.141000	0.18875	0.528000	0.53228	CAA		0.333	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			C	94642074	A	C	94642074	3	2	401	1	0	0	0	0	1	0	0	0	12128	98	4	5	2718	5	PLXNC1	12	94642074	Missense_Mutation	SNP	A	TCGA-BP-4991-01A-01D-1462-08		94642074	39209821	25	22172											
SLC25A3	5250	hgsc.bcm.edu;ucsc.edu	37	12	98995243	98995244	+	Frame_Shift_Ins	INS	-	-	C	rs369550906		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr12:98995243_98995244insC	ENST00000228318.3	+	8	1146_1147	c.1026_1027insC	c.(1027-1029)cctfs	p.P343fs	SLC25A3_ENST00000552981.1_Frame_Shift_Ins_p.P342fs|SLC25A3_ENST00000551917.1_Frame_Shift_Ins_p.P343fs|SLC25A3_ENST00000401722.3_Frame_Shift_Ins_p.P342fs|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Frame_Shift_Ins_p.P342fs|SLC25A3_ENST00000549338.1_Frame_Shift_Ins_p.P342fs|SLC25A3_ENST00000548847.1_Frame_Shift_Ins_p.P305fs	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	343					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		ACTTCAGACTTCCTCGCCCTCC	0.475																																																0																																										SO:0001589	frameshift_variant	5250				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.1028dupC	12.37:g.98995245_98995245dupC	ENSP00000228318:p.Pro343fs		B3KS34|Q7Z7N7|Q96A03	Frame_Shift_Ins	INS	ENST00000228318.3	37	CCDS9066.1																																																																																				0.475	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		C	98995244	-	C	98995243	7	5	401	1	0	1	1	0	0	0	0	0	14499	1770	62	0	1178	0	SLC25A3	12	98995243	Frame_Shift_Ins	INS	-	TCGA-BP-4991-01A-01D-1462-08	4353169	98995243	34856652	26	22173											
HTR2A	3356	broad.mit.edu	37	13	47470003	47470003	+	Silent	SNP	T	T	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr13:47470003T>A	ENST00000378688.4	-	1	170	c.39A>T	c.(37-39)tcA>tcT	p.S13S	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Silent_p.S13S			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	13					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S13S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGTTCGTAGTTGAGCTCAAAG	0.398																																																1	Substitution - coding silent(1)	kidney(1)											94	93	93					13																	47470003		2203	4300	6503	SO:0001819	synonymous_variant	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.39A>T	13.37:g.47470003T>A			B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	CCDS9405.1																																																																																				0.398	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		A	47470003	T	A	47470003	2	1	401	1	0	0	0	0	0	0	0	1	7443	1799	63	5		5	HTR2A	13	47470003	Silent	SNP	T	TCGA-BP-4991-01A-01D-1462-08		47470003	67699875	27	22174											
SLC7A8	23428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23608686	23608686	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr14:23608686A>G	ENST00000316902.7	-	6	1584	c.859T>C	c.(859-861)Tat>Cat	p.Y287H	SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Missense_Mutation_p.Y84H|SLC7A8_ENST00000422941.2_Missense_Mutation_p.Y63H|SLC7A8_ENST00000529705.2_Missense_Mutation_p.Y182H|SLC7A8_ENST00000532568.1_5'UTR	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	287					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.Y287H(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GCAGTGACATAAGCGACATTG	0.527																																																1	Substitution - Missense(1)	kidney(1)											147	128	135					14																	23608686		2203	4300	6503	SO:0001583	missense	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.859T>C	14.37:g.23608686A>G	ENSP00000320378:p.Tyr287His		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768690	0.90020	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000453702;ENST00000529705;ENST00000422941;ENST00000206514	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	5.06	5.06	0.68205	Amino acid permease domain (1);	0.126095	0.56097	D	0.000029	D	0.97005	0.9022	H	0.97635	4.045	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98276	1.0506	10	0.87932	D	0	.	14.5021	0.67729	1.0:0.0:0.0:0.0	.	182;63;287	B4DKT4;B4DTV6;Q9UHI5	.;.;LAT2_HUMAN	H	287;84;84;182;63;84	ENSP00000320378:Y287H;ENSP00000391577:Y84H;ENSP00000434345:Y182H;ENSP00000416398:Y63H	ENSP00000206514:Y84H	Y	-	1	0	SLC7A8	22678526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.505000	0.90515	2.207000	0.71202	0.533000	0.62120	TAT		0.527	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			G	23608686	A	G	23608686	3	3	401	1	0	0	0	0	1	0	0	0	14710	362	13	3	772	3	SLC7A8	14	23608686	Missense_Mutation	SNP	A	TCGA-BP-4991-01A-01D-1462-08		23608686	83740854	28	22175											
SERPINA1	5265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94844895	94844895	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr14:94844895G>T	ENST00000448921.1	-	7	1720	c.1148C>A	c.(1147-1149)tCt>tAt	p.S383Y	SERPINA1_ENST00000449399.3_Missense_Mutation_p.S383Y|SERPINA1_ENST00000393087.4_Missense_Mutation_p.S383Y|SERPINA1_ENST00000393088.4_Missense_Mutation_p.S383Y|SERPINA1_ENST00000355814.4_Missense_Mutation_p.S383Y|SERPINA1_ENST00000437397.1_Missense_Mutation_p.S383Y|SERPINA1_ENST00000440909.1_Missense_Mutation_p.S383Y|SERPINA1_ENST00000404814.4_Missense_Mutation_p.S383Y	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	383	RCL.	Reactive bond.			acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S383Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGGGGGGATAGACATGGGTAT	0.507																																																1	Substitution - Missense(1)	kidney(1)											114	107	109					14																	94844895		2203	4300	6503	SO:0001583	missense	5265			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1148C>A	14.37:g.94844895G>T	ENSP00000416066:p.Ser383Tyr		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438925	0.43326	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399	D;D;D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	4.78	1.92	0.25849	Serpin domain (3);	0.945959	0.08701	N	0.906470	D	0.92401	0.7588	M	0.93150	3.385	0.09310	N	0.999994	P	0.36125	0.538	P	0.44597	0.454	T	0.83054	-0.0151	10	0.51188	T	0.08	.	4.9987	0.14253	0.2547:0.1543:0.591:0.0	.	383	P01009	A1AT_HUMAN	Y	383	ENSP00000390299:S383Y;ENSP00000416066:S383Y;ENSP00000408474:S383Y;ENSP00000348068:S383Y;ENSP00000376802:S383Y;ENSP00000376803:S383Y;ENSP00000385960:S383Y;ENSP00000416354:S383Y	ENSP00000348068:S383Y	S	-	2	0	SERPINA1	93914648	0.036000	0.19791	0.000000	0.03702	0.001000	0.01503	1.394000	0.34509	0.231000	0.21079	0.655000	0.94253	TCT		0.507	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		T	94844895	G	T	94844895	3	4	401	1	0	0	0	0	1	0	0	0	14092	942	33	4	112	4	SERPINA1	14	94844895	Missense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08	71236209	94844895	12504645	29	22176											
APBA2	321	broad.mit.edu;hgsc.bcm.edu	37	15	29346935	29346935	+	Missense_Mutation	SNP	C	C	T	rs199985120		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr15:29346935C>T	ENST00000558402.1	+	5	1447	c.848C>T	c.(847-849)tCg>tTg	p.S283L	APBA2_ENST00000558259.1_Missense_Mutation_p.S283L|APBA2_ENST00000558330.1_Missense_Mutation_p.S283L|APBA2_ENST00000411764.1_Missense_Mutation_p.S283L|APBA2_ENST00000561069.1_Missense_Mutation_p.S283L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	283					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.S283L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGCCCAAGTCGCTGAACCTC	0.672																																																1	Substitution - Missense(1)	kidney(1)											22	25	24					15																	29346935		2203	4299	6502	SO:0001583	missense	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.848C>T	15.37:g.29346935C>T	ENSP00000453293:p.Ser283Leu		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746657	0.89663	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.60424	0.19	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.74898	0.3777	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.943;0.995;0.943	T	0.75880	-0.3161	10	0.45353	T	0.12	.	17.2277	0.86975	0.0:1.0:0.0:0.0	.	283;283;283	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	L	283	ENSP00000409312:S283L	ENSP00000219865:S283L	S	+	2	0	APBA2	27134227	1.000000	0.71417	0.973000	0.42090	0.897000	0.52465	5.469000	0.66749	2.280000	0.76307	0.650000	0.86243	TCG		0.672	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		T	29346935	C	T	29346935	3	4	401	1	0	0	0	0	1	0	0	0	757	893	31	1	850	1	APBA2	15	29346935	Missense_Mutation	SNP	C	TCGA-BP-4991-01A-01D-1462-08		29346935	73184457	30	22177											
TM6SF1	53346	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	83805262	83805262	+	Silent	SNP	T	T	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr15:83805262T>A	ENST00000322019.9	+	10	1225	c.951T>A	c.(949-951)ctT>ctA	p.L317L	TM6SF1_ENST00000565774.1_Silent_p.L286L|TM6SF1_ENST00000379386.4_Silent_p.L320L|TM6SF1_ENST00000379390.6_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	317						integral component of membrane (GO:0016021)		p.L317L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GTGCATCTCTTCATGCTAGAA	0.378																																																1	Substitution - coding silent(1)	kidney(1)											87	84	85					15																	83805262		2203	4300	6503	SO:0001819	synonymous_variant	53346			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.951T>A	15.37:g.83805262T>A			A8K7T5|H3BU56|Q4U0U5	Silent	SNP	ENST00000322019.9	37	CCDS10323.1																																																																																				0.378	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		A	83805262	T	A	83805262	2	1	401	1	0	0	0	0	0	0	0	1	15977	1770	62	5		5	TM6SF1	15	83805262	Silent	SNP	T	TCGA-BP-4991-01A-01D-1462-08	54458327	83805262	18726130	31	22178											
MFGE8	4240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89449935	89449935	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr15:89449935G>A	ENST00000566497.1	-	4	523	c.462C>T	c.(460-462)taC>taT	p.Y154Y	MFGE8_ENST00000542878.1_Silent_p.Y110Y|MFGE8_ENST00000268151.7_Silent_p.Y154Y|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Silent_p.Y154Y|MFGE8_ENST00000539437.1_Silent_p.Y146Y			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	154	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)	p.Y154Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGGCCTTCAGGTACTCATGAC	0.537																																																1	Substitution - coding silent(1)	kidney(1)											105	92	96					15																	89449935		2200	4299	6499	SO:0001819	synonymous_variant	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.462C>T	15.37:g.89449935G>A			B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	ENST00000566497.1	37	CCDS10347.1																																																																																				0.537	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		A	89449935	G	A	89449935	2	1	401	1	0	0	0	0	0	0	0	1	9522	1256	44	2		2	MFGE8	15	89449935	Silent	SNP	G	TCGA-BP-4991-01A-01D-1462-08	5644673	89449935	13081457	32	22179											
RHOT2	89941	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	722787	722787	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr16:722787G>A	ENST00000315082.4	+	17	1603	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	RHBDL1_ENST00000352681.3_5'Flank	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	497	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D497N(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TGATGGCAGTGACCCAAAGTC	0.627																																																1	Substitution - Missense(1)	kidney(1)											97	94	95					16																	722787		2199	4299	6498	SO:0001583	missense	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1489G>A	16.37:g.722787G>A	ENSP00000321971:p.Asp497Asn		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	0.745	-0.774932	0.02951	.	.	ENSG00000140983	ENST00000315082	T	0.23348	1.91	4.65	0.26	0.15588	Mitochondrial Rho-like (1);MIRO (1);	0.046195	0.85682	N	0.000000	T	0.19446	0.0467	L	0.61036	1.89	0.53688	D	0.999972	B	0.13145	0.007	B	0.20384	0.029	T	0.19484	-1.0304	10	0.07325	T	0.83	-0.8209	7.1493	0.25601	0.1539:0.2594:0.5867:0.0	.	497	Q8IXI1	MIRO2_HUMAN	N	497	ENSP00000321971:D497N	ENSP00000321971:D497N	D	+	1	0	RHOT2	662788	0.989000	0.36119	0.316000	0.25252	0.383000	0.30230	1.992000	0.40737	-0.175000	0.10725	-0.802000	0.03209	GAC		0.627	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		A	722787	G	A	722787	3	1	401	1	0	0	0	0	1	0	0	0	13350	1290	45	2	1555	2	RHOT2	16	722787	Missense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08		722787	89631966	33	22180											
DNAH3	55567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21151927	21151927	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr16:21151927A>C	ENST00000261383.3	-	5	625	c.626T>G	c.(625-627)cTc>cGc	p.L209R	DNAH3_ENST00000415178.1_Missense_Mutation_p.L209R|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	209	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.L209R(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATGACATCGAGCTGCTGTTC	0.483																																																2	Substitution - Missense(2)	kidney(2)											269	216	234					16																	21151927		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.626T>G	16.37:g.21151927A>C	ENSP00000261383:p.Leu209Arg		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276614	0.40294	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.23754	1.89;2.07	5.17	5.17	0.71159	.	0.439260	0.23369	N	0.048938	T	0.22820	0.0551	L	0.39898	1.24	0.31067	N	0.713423	B;B	0.28233	0.0;0.204	B;B	0.27380	0.001;0.079	T	0.12344	-1.0551	10	0.32370	T	0.25	.	14.1454	0.65347	1.0:0.0:0.0:0.0	.	209;180	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	R	209;209;180	ENSP00000261383:L209R;ENSP00000394245:L209R	ENSP00000261383:L209R	L	-	2	0	DNAH3	21059428	0.956000	0.32656	0.710000	0.30468	0.766000	0.43426	6.778000	0.75043	2.168000	0.68352	0.533000	0.62120	CTC		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		C	21151927	A	C	21151927	3	2	401	1	0	0	0	0	1	0	0	0	4605	304	11	5	11955	5	DNAH3	16	21151927	Missense_Mutation	SNP	A	TCGA-BP-4991-01A-01D-1462-08	20429140	21151927	69202826	34	22181											
SLC12A4	6560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67980916	67980916	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr16:67980916T>G	ENST00000316341.3	-	17	2305	c.2165A>C	c.(2164-2166)aAg>aCg	p.K722T	SLC12A4_ENST00000572037.1_Missense_Mutation_p.K674T|SLC12A4_ENST00000422611.2_Missense_Mutation_p.K724T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K716T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K722T|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000541864.2_Missense_Mutation_p.K691T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K722T|LCAT_ENST00000264005.5_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	722					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.K722T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGTCAGGCCCTTGCCAGCCTT	0.632																																																1	Substitution - Missense(1)	kidney(1)											40	39	39					16																	67980916		2198	4300	6498	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2165A>C	16.37:g.67980916T>G	ENSP00000318557:p.Lys722Thr		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	T	33	5.215446	0.95104	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.992;0.999;0.994;0.994;0.991	D	0.98463	1.0597	10	0.66056	D	0.02	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	724;722;691;716;722;722	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	T	724;691;716;722;722	ENSP00000395983:K724T;ENSP00000438334:K691T;ENSP00000445962:K716T;ENSP00000343374:K722T;ENSP00000318557:K722T	ENSP00000318557:K722T	K	-	2	0	SLC12A4	66538417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.206000	0.71126	0.533000	0.62120	AAG		0.632	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		G	67980916	T	G	67980916	3	3	401	1	0	0	0	0	1	0	0	0	14391	1609	56	5	1124	5	SLC12A4	16	67980916	Missense_Mutation	SNP	T	TCGA-BP-4991-01A-01D-1462-08	46828989	67980916	22373837	35	22182											
EFCAB5	374786	broad.mit.edu;hgsc.bcm.edu	37	17	28405489	28405489	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:28405489G>A	ENST00000394835.3	+	15	3186	c.2994G>A	c.(2992-2994)ccG>ccA	p.P998P	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.P874P	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	998							calcium ion binding (GO:0005509)	p.P998P(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCCTAGAGCCGGTGTATAGTG	0.483																																																1	Substitution - coding silent(1)	kidney(1)											40	41	41					17																	28405489		1952	4142	6094	SO:0001819	synonymous_variant	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2994G>A	17.37:g.28405489G>A			B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	CCDS11254.2																																																																																				0.483	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		A	28405489	G	A	28405489	2	1	401	1	0	0	0	0	0	0	0	1	4940	1103	39	1		1	EFCAB5	17	28405489	Silent	SNP	G	TCGA-BP-4991-01A-01D-1462-08		28405489	52789721	36	22183											
KRT35	3886	broad.mit.edu;hgsc.bcm.edu	37	17	39635602	39635602	+	Silent	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:39635602C>T	ENST00000393989.1	-	3	750	c.708G>A	c.(706-708)gaG>gaA	p.E236E	KRT35_ENST00000246639.2_Silent_p.E206E	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	236	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E236E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				tgctcacctccTCATGGTTCT	0.592																																																1	Substitution - coding silent(1)	kidney(1)											88	85	86					17																	39635602		2203	4300	6503	SO:0001819	synonymous_variant	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.708G>A	17.37:g.39635602C>T			O76012|Q92651	Silent	SNP	ENST00000393989.1	37	CCDS11394.2																																																																																				0.592	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		T	39635602	C	T	39635602	2	4	401	1	0	0	0	0	0	0	0	1	8474	680	24	2		2	KRT35	17	39635602	Silent	SNP	C	TCGA-BP-4991-01A-01D-1462-08	11230113	39635602	41559608	37	22184											
HOXB13	10481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46805884	46805884	+	Silent	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:46805884C>T	ENST00000290295.7	-	1	656	c.72G>A	c.(70-72)ggG>ggA	p.G24G		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	24					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.G24G(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCAGATTCCGCCCCCCTCCCG	0.657																																																1	Substitution - coding silent(1)	kidney(1)											20	23	22					17																	46805884		2203	4296	6499	SO:0001819	synonymous_variant	10481			U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"Homeoboxes / ANTP class : HOXL subclass"	5112	protein-coding gene	gene with protein product		604607	"homeo box B13"			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.72G>A	17.37:g.46805884C>T			B2R878|Q96QM4|Q99810	Silent	SNP	ENST00000290295.7	37	CCDS11536.1																																																																																				0.657	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		T	46805884	C	T	46805884	2	4	401	1	0	0	0	0	0	0	0	1	7302	726	26	2		2	HOXB13	17	46805884	Silent	SNP	C	TCGA-BP-4991-01A-01D-1462-08	7170282	46805884	34389326	38	22185											
TOB1	10140	hgsc.bcm.edu;ucsc.edu	37	17	48940796	48940797	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:48940796_48940797delTA	ENST00000268957.3	-	3	1010_1011	c.582_583delTA	c.(580-585)aatagtfs	p.NS194fs	TOB1_ENST00000499247.2_Frame_Shift_Del_p.NS194fs|TOB1_ENST00000509385.1_5'UTR	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	194					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTACGGCCACTATTCTTCATTT	0.5											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(144;643 1919 24513 29423 40686)											0																																										SO:0001589	frameshift_variant	10140			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.582_583delTA	17.37:g.48940796_48940797delTA	ENSP00000268957:p.Asn194fs	958	B2R9T0|D3DTY3|Q4KMQ0	Frame_Shift_Del	DEL	ENST00000268957.3	37	CCDS11576.1																																																																																				0.5	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			-	48940797	TA	-	48940796	7	5	401	1	0	1	0	1	0	0	0	0	16352	1522	53	0	458	0	TOB1	17	48940796	Frame_Shift_Del	DEL	TA	TCGA-BP-4991-01A-01D-1462-08	2134912	48940796	32254414	39	22186											
TRIM25	7706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	54985850	54985850	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:54985850T>G	ENST00000316881.4	-	2	721	c.672A>C	c.(670-672)agA>agC	p.R224S	TRIM25_ENST00000537230.1_Missense_Mutation_p.R224S	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	224	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R224S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCTGCCTGTTTCTCACATCAT	0.592																																																1	Substitution - Missense(1)	kidney(1)											138	101	113					17																	54985850		2203	4300	6503	SO:0001583	missense	7706			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.672A>C	17.37:g.54985850T>G	ENSP00000323889:p.Arg224Ser			Missense_Mutation	SNP	ENST00000316881.4	37	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	T	8.198	0.797505	0.16327	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.68331	-0.32;-0.32	4.38	0.922	0.19408	.	0.457377	0.20425	N	0.092587	T	0.60117	0.2244	M	0.73962	2.25	0.09310	N	1	B	0.24368	0.102	B	0.24006	0.05	T	0.51631	-0.8681	10	0.37606	T	0.19	.	6.0519	0.19790	0.0:0.0953:0.1639:0.7407	.	224	Q14258	TRI25_HUMAN	S	224	ENSP00000323889:R224S;ENSP00000445961:R224S	ENSP00000323889:R224S	R	-	3	2	TRIM25	52340849	0.493000	0.26035	0.064000	0.19789	0.100000	0.18952	0.624000	0.24462	0.105000	0.17753	-1.122000	0.02009	AGA		0.592	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		G	54985850	T	G	54985850	3	3	401	1	0	0	0	0	1	0	0	0	16504	1780	62	5	1252	5	TRIM25	17	54985850	Missense_Mutation	SNP	T	TCGA-BP-4991-01A-01D-1462-08	6045054	54985850	26209360	40	22187											
MPO	4353	broad.mit.edu	37	17	56350261	56350261	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:56350261A>G	ENST00000225275.3	-	10	1816	c.1640T>C	c.(1639-1641)cTc>cCc	p.L547P	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.L579P	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	547					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L547P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GAGGCCCCGGAGGATGGGGTC	0.567																																																1	Substitution - Missense(1)	kidney(1)											93	101	98					17																	56350261		2203	4300	6503	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1640T>C	17.37:g.56350261A>G	ENSP00000225275:p.Leu547Pro		A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243384	0.79912	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.73789	-0.78;-0.78	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	D	0.85635	0.5742	H	0.97214	3.96	0.80722	D	1	P	0.44776	0.843	P	0.45099	0.469	D	0.90252	0.4294	10	0.87932	D	0	-26.5272	14.0657	0.64826	1.0:0.0:0.0:0.0	.	547	P05164	PERM_HUMAN	P	579;547	ENSP00000344419:L579P;ENSP00000225275:L547P	ENSP00000225275:L547P	L	-	2	0	MPO	53705260	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.310000	0.96267	1.909000	0.55274	0.459000	0.35465	CTC		0.567	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			G	56350261	A	G	56350261	3	3	401	1	0	0	0	0	1	0	0	0	9734	304	11	3	609	3	MPO	17	56350261	Missense_Mutation	SNP	A	TCGA-BP-4991-01A-01D-1462-08	1364411	56350261	24844949	41	22188											
POLG2	11232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62474074	62474074	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:62474074A>T	ENST00000539111.2	-	8	1391	c.1324T>A	c.(1324-1326)Ttg>Atg	p.L442M	POLG2_ENST00000582501.1_5'Flank	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	442					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.L442M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TCAGTAACCAAAACTGTGAAG	0.333																																					Colon(3;18 21 435 17652 48887)											1	Substitution - Missense(1)	kidney(1)											94	86	89					17																	62474074		2203	4298	6501	SO:0001583	missense	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.1324T>A	17.37:g.62474074A>T	ENSP00000442563:p.Leu442Met		O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.797483	0.31777	.	.	ENSG00000256525	ENST00000539111	D	0.82984	-1.67	5.76	0.394	0.16299	Anticodon-binding (3);	0.079563	0.49305	D	0.000160	D	0.83138	0.5189	L	0.48877	1.53	0.42305	D	0.992195	P	0.51933	0.949	P	0.55615	0.78	T	0.82012	-0.0668	10	0.72032	D	0.01	-12.4569	11.1013	0.48177	0.4512:0.0:0.5488:0.0	.	442	Q9UHN1	DPOG2_HUMAN	M	442	ENSP00000442563:L442M	ENSP00000442563:L442M	L	-	1	2	POLG2	59904536	0.991000	0.36638	0.082000	0.20525	0.054000	0.15201	0.451000	0.21779	0.029000	0.15352	0.372000	0.22366	TTG		0.333	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		T	62474074	A	T	62474074	3	4	401	1	0	0	0	0	1	0	0	0	12203	11	1	5	137	5	POLG2	17	62474074	Missense_Mutation	SNP	A	TCGA-BP-4991-01A-01D-1462-08	6123813	62474074	18721136	42	22189											
FASN	2194	broad.mit.edu;hgsc.bcm.edu	37	17	80046746	80046746	+	Silent	SNP	G	G	A	rs202206277		TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr17:80046746G>A	ENST00000306749.2	-	15	2529	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	771	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L771L(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCACGCTTCAGGACAGCCTGG	0.672																																					Colon(59;314 1043 11189 28578 32273)											1	Substitution - coding silent(1)	kidney(1)											33	33	33					17																	80046746		2201	4297	6498	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2311C>T	17.37:g.80046746G>A			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	CCDS11801.1																																																																																				0.672	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		A	80046746	G	A	80046746	2	1	401	1	0	0	0	0	0	0	0	1	5685	991	35	2		2	FASN	17	80046746	Silent	SNP	G	TCGA-BP-4991-01A-01D-1462-08	17572672	80046746	1148464	43	22190											
COL5A3	50509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10071471	10071471	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr19:10071471G>T	ENST00000264828.3	-	66	5032	c.4947C>A	c.(4945-4947)taC>taA	p.Y1649*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1649	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.Y1649*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTGGCAGGAGTAGGTGAAGT	0.592																																																1	Substitution - Nonsense(1)	kidney(1)											86	76	79					19																	10071471		2203	4300	6503	SO:0001587	stop_gained	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4947C>A	19.37:g.10071471G>T	ENSP00000264828:p.Tyr1649*		Q9NZQ6	Nonsense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	42	9.625954	0.99223	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.03	4.03	0.46877	.	0.401526	0.23077	U	0.052198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5211	0.27629	0.1163:0.0:0.8837:0.0	.	.	.	.	X	1649	.	ENSP00000264828:Y1649X	Y	-	3	2	COL5A3	9932471	1.000000	0.71417	0.718000	0.30602	0.575000	0.36095	3.180000	0.50895	2.092000	0.63282	0.462000	0.41574	TAC		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10071471	G	T	10071471	4	4	401	1	0	0	0	0	0	1	0	0	3700	1024	36	4	298	4	COL5A3	19	10071471	Nonsense_Mutation	SNP	G	TCGA-BP-4991-01A-01D-1462-08		10071471	49057512	44	22191											
ECSIT	51295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11618640	11618640	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr19:11618640G>A	ENST00000270517.7	-	6	957	c.822C>T	c.(820-822)gcC>gcT	p.A274A	CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000591104.1_Intron|ECSIT_ENST00000592312.1_Missense_Mutation_p.P205L|ECSIT_ENST00000417981.2_Silent_p.A60A|ZNF653_ENST00000593191.1_5'Flank|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000252440.7_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	274					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.A274A(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GGGCCAGGGCGGCCTGCTGAT	0.637																																																1	Substitution - coding silent(1)	kidney(1)											30	33	32					19																	11618640		2203	4300	6503	SO:0001819	synonymous_variant	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.822C>T	19.37:g.11618640G>A			E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	ENST00000270517.7	37	CCDS12262.1																																																																																				0.637	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		A	11618640	G	A	11618640	2	1	401	1	0	0	0	0	0	0	0	1	4902	1103	39	1		1	ECSIT	19	11618640	Silent	SNP	G	TCGA-BP-4991-01A-01D-1462-08	1547169	11618640	47510343	45	22192											
GGT1	2678	broad.mit.edu;hgsc.bcm.edu	37	22	25010806	25010806	+	Silent	SNP	G	G	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chr22:25010806G>A	ENST00000400382.1	+	6	983	c.228G>A	c.(226-228)ggG>ggA	p.G76G	GGT1_ENST00000248923.4_Silent_p.G76G|GGT1_ENST00000400380.1_Silent_p.G76G|GGT1_ENST00000400383.1_Silent_p.G76G|GGT1_ENST00000406383.2_Silent_p.G76G			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	76					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.G76G(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TGTGTGTGGGGCTCATGAATG	0.617																																																1	Substitution - coding silent(1)	kidney(1)											35	38	37					22																	25010806		2034	4166	6200	SO:0001819	synonymous_variant	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.228G>A	22.37:g.25010806G>A			Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	CCDS42992.1																																																																																				0.617	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		A	25010806	G	A	25010806	2	1	401	1	0	0	0	0	0	0	0	1	6363	1190	42	2		2	GGT1	22	25010806	Silent	SNP	G	TCGA-BP-4991-01A-01D-1462-08		25010806	26293760	46	22193											
HUWE1	10075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53612105	53612105	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chrX:53612105C>A	ENST00000342160.3	-	39	5325	c.4868G>T	c.(4867-4869)cGc>cTc	p.R1623L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1623L|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1623L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1623	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R1623L(1)|p.R1486L(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACGCCCAGAGCGATCATCAAA	0.428																																																2	Substitution - Missense(2)	kidney(2)											164	133	144					X																	53612105		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4868G>T	X.37:g.53612105C>A	ENSP00000340648:p.Arg1623Leu		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871625	0.91587	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.44083	0.93;0.93;1.53	5.61	5.61	0.85477	WWE domain (2);	0.129286	0.52532	D	0.000067	T	0.47154	0.1430	M	0.61703	1.905	0.80722	D	1	P;P	0.42827	0.649;0.791	B;B	0.42112	0.34;0.376	T	0.49908	-0.8889	10	0.52906	T	0.07	.	17.3373	0.87285	0.0:1.0:0.0:0.0	.	1623;1623	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	L	1623	ENSP00000340648:R1623L;ENSP00000262854:R1623L;ENSP00000218328:R1623L	ENSP00000218328:R1623L	R	-	2	0	HUWE1	53628830	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.441000	0.80485	2.361000	0.80049	0.600000	0.82982	CGC		0.428	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53612105	C	A	53612105	3	1	401	1	0	0	0	0	1	0	0	0	7463	768	27	4	8436	4	HUWE1	23	53612105	Missense_Mutation	SNP	C	TCGA-BP-4991-01A-01D-1462-08		53612105	101658455	47	22194											
MSN	4478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	64959702	64959702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chrX:64959702C>T	ENST00000360270.5	+	13	1853	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	561					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.Q561*(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GACCCTGCGCCAGATCCGGCA	0.552			T	ALK	ALCL																																		Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Substitution - Nonsense(1)	kidney(1)											124	99	107					X																	64959702		2203	4300	6503	SO:0001587	stop_gained	4478			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1681C>T	X.37:g.64959702C>T	ENSP00000353408:p.Gln561*			Nonsense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	C	41	8.545476	0.98857	.	.	ENSG00000147065	ENST00000360270	.	.	.	5.67	5.67	0.87782	.	0.050126	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	17.135	0.86737	0.0:1.0:0.0:0.0	.	.	.	.	X	561	.	ENSP00000353408:Q561X	Q	+	1	0	MSN	64876427	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.734000	0.84928	2.368000	0.80403	0.594000	0.82650	CAG		0.552	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		T	64959702	C	T	64959702	4	4	401	1	0	0	0	0	0	1	0	0	9887	595	21	2	1731	2	MSN	23	64959702	Nonsense_Mutation	SNP	C	TCGA-BP-4991-01A-01D-1462-08	11347597	64959702	90310858	48	22195											
GUCY2F	2986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	108636245	108636245	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4991-01A-01D-1462-08	TCGA-BP-4991-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d54c714e-b1c4-4669-986d-5e13d2fc3cc3	11980286-4f68-4660-88d1-949a55304a45	g.chrX:108636245C>A	ENST00000218006.2	-	13	2755	c.2464G>T	c.(2464-2466)Gat>Tat	p.D822Y		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	822					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.D822Y(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGCATAGAATCAATAATATTG	0.358																																																1	Substitution - Missense(1)	kidney(1)											129	120	123					X																	108636245		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2464G>T	X.37:g.108636245C>A	ENSP00000218006:p.Asp822Tyr		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.736950	0.69304	.	.	ENSG00000101890	ENST00000218006	T	0.62105	0.05	4.39	4.39	0.52855	Protein kinase-like domain (1);	0.051837	0.85682	D	0.000000	T	0.81777	0.4894	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85626	0.1267	10	0.87932	D	0	.	13.7657	0.62992	0.0:1.0:0.0:0.0	.	822	P51841	GUC2F_HUMAN	Y	822	ENSP00000218006:D822Y	ENSP00000218006:D822Y	D	-	1	0	GUCY2F	108522901	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.593000	0.82686	2.418000	0.82041	0.513000	0.50165	GAT		0.358	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		A	108636245	C	A	108636245	3	1	401	1	0	0	0	0	1	0	0	0	6900	826	29	4	890	4	GUCY2F	23	108636245	Missense_Mutation	SNP	C	TCGA-BP-4991-01A-01D-1462-08	43676543	108636245	46634315	49	22196											
VHL	7428	hgsc.bcm.edu	37	3	10183830	10183831	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-BP-4992-01A-01D-1392-10	TCGA-BP-4992-11A-01D-1392-10	CG	CG	CG	-	CG	CG	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	d5f862a5-be33-4943-8746-41a354bbf03f	af086602-7697-47db-9386-999d8ab33c5a	g.chr3:10183830_10183831delCG	ENST00000256474.2	+	1	1139_1140	c.299_300delCG	c.(298-300)acgfs	p.T100fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Del_p.T100fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	100	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.T100fs*32(1)|p.P97fs*59(1)|p.T100_G106>S(1)|p.L101fs*30(1)|p.Y98fs*27(1)|p.L101fs*58(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCTACCCAACGCTGCCGCCTG	0.688		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	6	Deletion - Frameshift(3)|Complex - frameshift(1)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(6)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.299_300delCG	3.37:g.10183830_10183831delCG	ENSP00000256474:p.Thr100fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.688	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183831	CG	-	10183830	7	5	402	1	0	1	0	1	0	0	0	0	17167	536	19	0	301	0	VHL	3	10183830	Frame_Shift_Del	DEL	CG	TCGA-BP-4992-01A-01D-1392-10		10183830	187838600	1	22197	168	2									
VHL	7428	hgsc.bcm.edu	37	3	10183832	10183833	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-BP-4992-01A-01D-1392-10	TCGA-BP-4992-11A-01D-1392-10	CT	CT	CT	AA	CT	CT	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	d5f862a5-be33-4943-8746-41a354bbf03f	af086602-7697-47db-9386-999d8ab33c5a	g.chr3:10183832_10183833CT>AA	ENST00000256474.2	+	1	1141_1142	c.301_302CT>AA	c.(301-303)CTg>AAg	p.L101K	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.L101K	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	101	Involved in binding to CCT complex.		L -> G (in VHLD; type I; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:9829911}.|L -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L101P(2)|p.L101L(2)|p.L101_P102del(1)|p.L101del(1)|p.L101Q(1)|p.L101fs*57(1)|p.T100_G106>S(1)|p.L101fs*30(1)|p.Y98fs*27(1)|p.L101fs*58(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTACCCAACGCTGCCGCCTGGC	0.688		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Deletion - Frameshift(3)|Substitution - Missense(3)|Deletion - In frame(2)|Substitution - coding silent(2)|Complex - frameshift(1)|Complex - deletion inframe(1)	kidney(11)|autonomic_ganglia(1)	GRCh37	CM961421|CX984038	VHL	M|X																																				SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	Exception_encountered	3.37:g.10183832_10183833delinsAA	ENSP00000256474:p.Leu101Lys		B2RE45|Q13599|Q6PDA9	Missense_Mutation	DNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.688	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		AA	10183833	CT	AA	10183832	3	1	402	1	0	0	0	0	1	0	0	0	17167	796	28	4	303	4	VHL	3	10183832	Missense_Mutation	DNP	CT	TCGA-BP-4992-01A-01D-1392-10	2	10183832	187838598	2	22198	168	2									
MYOM3	127294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24419478	24419478	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr1:24419478G>A	ENST00000374434.3	-	10	1211	c.1049C>T	c.(1048-1050)cCc>cTc	p.P350L	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.P350L|MYOM3_ENST00000330966.7_Missense_Mutation_p.P351L	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	350	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.P350L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGGTCCGAAGGGCGAGGGCAC	0.647																																																1	Substitution - Missense(1)	kidney(1)											29	34	32					1																	24419478		1986	4139	6125	SO:0001583	missense	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1049C>T	1.37:g.24419478G>A	ENSP00000363557:p.Pro350Leu		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	5.916	0.353105	0.11182	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.66815	-0.23;-0.23;-0.23	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.863614	0.10789	N	0.633947	T	0.55242	0.1908	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.11235	0.004;0.0;0.002	B;B;B	0.10450	0.005;0.005;0.002	T	0.42085	-0.9472	10	0.39692	T	0.17	.	11.6706	0.51399	0.0:0.0:0.8231:0.1769	.	7;350;350	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	L	350;351;350	ENSP00000363557:P350L;ENSP00000332670:P351L;ENSP00000328415:P350L	ENSP00000328415:P350L	P	-	2	0	MYOM3	24292065	0.185000	0.23213	0.016000	0.15963	0.003000	0.03518	2.455000	0.44988	2.512000	0.84698	0.650000	0.86243	CCC		0.647	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		A	24419478	G	A	24419478	3	1	403	1	0	0	0	0	1	0	0	0	10095	1232	43	2	3376	2	MYOM3	1	24419478	Missense_Mutation	SNP	G	TCGA-BP-4992-01A-01D-1462-08		24419478	224831143	1	22199											
TAF1B	9014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	10051037	10051037	+	Silent	SNP	C	C	T	rs369161786		TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr2:10051037C>T	ENST00000263663.5	+	10	1316	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	TAF1B_ENST00000396242.3_Silent_p.F121F	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	376					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.F376F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGACAGTTTCGAGTGGTAAG	0.328																																																1	Substitution - coding silent(1)	kidney(1)											174	135	148					2																	10051037		2203	4300	6503	SO:0001819	synonymous_variant	9014			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1128C>T	2.37:g.10051037C>T			B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	ENST00000263663.5	37	CCDS33143.1																																																																																				0.328	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		T	10051037	C	T	10051037	2	4	403	1	0	0	0	0	0	0	0	1	15525	883	31	1		1	TAF1B	2	10051037	Silent	SNP	C	TCGA-BP-4992-01A-01D-1462-08		10051037	233148336	2	22200											
PDIA6	10130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	10931989	10931989	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr2:10931989C>G	ENST00000272227.3	-	6	663	c.516G>C	c.(514-516)aaG>aaC	p.K172N	PDIA6_ENST00000404824.2_Missense_Mutation_p.K220N|PDIA6_ENST00000540494.1_Missense_Mutation_p.K169N|PDIA6_ENST00000381611.4_Missense_Mutation_p.K177N|PDIA6_ENST00000404371.2_Missense_Mutation_p.K224N	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	172	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)	p.K172N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CCAGAACATTCTTATCAAAGC	0.403																																					GBM(73;509 1219 34219 41343 41551)											1	Substitution - Missense(1)	kidney(1)											279	207	231					2																	10931989		2203	4300	6503	SO:0001583	missense	10130			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.516G>C	2.37:g.10931989C>G	ENSP00000272227:p.Lys172Asn		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	C	9.126	1.010170	0.19277	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.63	2.53	0.30540	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.515963	0.23120	N	0.051704	T	0.30603	0.0770	L	0.28344	0.845	0.49582	D	0.999807	B;B;B;B	0.19200	0.009;0.034;0.015;0.014	B;B;B;B	0.31245	0.037;0.091;0.091;0.126	T	0.08785	-1.0705	10	0.56958	D	0.05	.	7.0862	0.25259	0.0:0.6298:0.1398:0.2304	.	169;220;224;172	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	N	172;224;220;169;177	ENSP00000272227:K172N;ENSP00000385385:K224N;ENSP00000384459:K220N;ENSP00000438778:K169N;ENSP00000371024:K177N	ENSP00000272227:K172N	K	-	3	2	PDIA6	10849440	1.000000	0.71417	0.033000	0.17914	0.083000	0.17756	1.505000	0.35736	0.340000	0.23745	-0.150000	0.13652	AAG		0.403	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		G	10931989	C	G	10931989	3	3	403	1	0	0	0	0	1	0	0	0	11674	912	32	4	838	4	PDIA6	2	10931989	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08	880952	10931989	232267384	3	22201											
TET3	200424	broad.mit.edu	37	2	74328533	74328533	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr2:74328533G>T	ENST00000409262.3	+	9	4213	c.4213G>T	c.(4213-4215)Ggg>Tgg	p.G1405W		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1405					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.G682W(1)|p.G1405W(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTGGGGGCAGGGGATTTCAA	0.637																																																2	Substitution - Missense(2)	kidney(2)											29	35	33					2																	74328533		1879	4104	5983	SO:0001583	missense	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4213G>T	2.37:g.74328533G>T	ENSP00000386869:p.Gly1405Trp		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	8.327	0.825556	0.16749	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.12361	2.69	4.24	3.35	0.38373	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.369547	0.26079	N	0.026468	T	0.11793	0.0287	L	0.36672	1.1	0.09310	N	1	P	0.46020	0.871	B	0.43536	0.423	T	0.11542	-1.0583	10	0.62326	D	0.03	.	7.682	0.28520	0.097:0.1706:0.7324:0.0	.	1405	O43151	TET3_HUMAN	W	1405	ENSP00000386869:G1405W	ENSP00000233310:G1405W	G	+	1	0	TET3	74182041	0.992000	0.36948	0.867000	0.34043	0.537000	0.34900	2.216000	0.42871	2.382000	0.81193	0.655000	0.94253	GGG		0.637	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			T	74328533	G	T	74328533	3	4	403	1	0	0	0	0	1	0	0	0	15776	1000	35	4	4247	4	TET3	2	74328533	Missense_Mutation	SNP	G	TCGA-BP-4992-01A-01D-1462-08	63396544	74328533	168870840	4	22202											
ITPRIPL1	150771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	96993809	96993809	+	Silent	SNP	C	C	T			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr2:96993809C>T	ENST00000439118.2	+	3	1691	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	ITPRIPL1_ENST00000542887.1_Silent_p.F472F|ITPRIPL1_ENST00000536814.1_Silent_p.F472F|ITPRIPL1_ENST00000361124.4_Silent_p.F488F	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	480						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.F488F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCTCTGGTTCTTGGGCCGTG	0.527																																																1	Substitution - coding silent(1)	kidney(1)											87	86	86					2																	96993809		2203	4300	6503	SO:0001819	synonymous_variant	150771				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"KIAA1754-like", "inositol 1,4,5-triphosphate receptor interacting protein-like 1"	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1440C>T	2.37:g.96993809C>T			F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250589	0.10130	.	.	ENSG00000198885	ENST00000420728	.	.	.	5.49	2.76	0.32466	.	.	.	.	.	T	0.53738	0.1815	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43750	-0.9372	4	.	.	.	-19.8919	5.6201	0.17453	0.0:0.6222:0.1435:0.2343	.	.	.	.	F	512	.	.	S	+	2	0	ITPRIPL1	96357536	0.933000	0.31639	0.991000	0.47740	0.996000	0.88848	0.806000	0.27126	0.450000	0.26774	0.655000	0.94253	TCT		0.527	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		T	96993809	C	T	96993809	2	4	403	1	0	0	0	0	0	0	0	1	7926	912	32	2		2	ITPRIPL1	2	96993809	Silent	SNP	C	TCGA-BP-4992-01A-01D-1462-08	22665276	96993809	146205564	5	22203											
SH3RF3	344558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	110053415	110053415	+	Silent	SNP	G	G	T			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr2:110053415G>T	ENST00000309415.6	+	7	1641	c.1641G>T	c.(1639-1641)ggG>ggT	p.G547G		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	547							zinc ion binding (GO:0008270)	p.G547G(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TGGCCAAAGGGATAACCACAA	0.637																																																1	Substitution - coding silent(1)	kidney(1)											45	61	55					2																	110053415		2106	4212	6318	SO:0001819	synonymous_variant	344558			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1641G>T	2.37:g.110053415G>T			A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37																																																																																					0.637	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		T	110053415	G	T	110053415	2	4	403	1	0	0	0	0	0	0	0	1	14266	1161	41	4		4	SH3RF3	2	110053415	Silent	SNP	G	TCGA-BP-4992-01A-01D-1462-08	13059606	110053415	133145958	6	22204											
BZW1	9689	broad.mit.edu;hgsc.bcm.edu	37	2	201682967	201682967	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr2:201682967C>G	ENST00000409600.1	+	8	1125	c.670C>G	c.(670-672)Caa>Gaa	p.Q224E	BZW1_ENST00000452790.2_Missense_Mutation_p.Q256E|BZW1_ENST00000409226.1_Missense_Mutation_p.Q228E	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q256E(1)|p.Q224E(1)		breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGCCAATAAGCAAAGTGTTGA	0.348																																																2	Substitution - Missense(2)	kidney(2)											20	19	19					2																	201682967		1786	4051	5837	SO:0001583	missense	9689			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.670C>G	2.37:g.201682967C>G	ENSP00000386474:p.Gln224Glu		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	ENST00000409600.1	37	CCDS56156.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582002	0.65992	.	.	ENSG00000082153	ENST00000410110;ENST00000409600;ENST00000431249;ENST00000409226;ENST00000452790	T;T;T;T	0.77750	0.91;-1.09;-1.09;-1.12	5.87	5.87	0.94306	.	0.058066	0.64402	D	0.000001	T	0.74222	0.3688	L	0.44542	1.39	0.58432	D	0.999997	B;B;B	0.30068	0.267;0.19;0.139	B;B;B	0.27500	0.08;0.036;0.05	T	0.71510	-0.4571	10	0.56958	D	0.05	-0.7475	20.5827	0.99408	0.0:1.0:0.0:0.0	.	228;256;224	B4DWF7;B4DLZ8;Q7L1Q6	.;.;BZW1_HUMAN	E	224;224;140;228;256	ENSP00000387086:Q224E;ENSP00000386474:Q224E;ENSP00000386837:Q228E;ENSP00000394316:Q256E	ENSP00000386837:Q228E	Q	+	1	0	BZW1	201391212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.890000	0.69774	2.941000	0.99782	0.655000	0.94253	CAA		0.348	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		G	201682967	C	G	201682967	3	3	403	1	0	0	0	0	1	0	0	0	1580	711	25	4	696	4	BZW1	2	201682967	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08	91629552	201682967	41516406	7	22205											
AQP12A	375318	broad.mit.edu;hgsc.bcm.edu	37	2	241631411	241631411	+	Silent	SNP	C	C	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr2:241631411C>A	ENST00000337801.4	+	1	150	c.81C>A	c.(79-81)gcC>gcA	p.A27A	AC011298.2_ENST00000407635.2_lincRNA|AQP12A_ENST00000429564.1_Silent_p.A27A	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	27						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.A27A(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCTCCAAGGCCCTGCTCCCAG	0.687																																																1	Substitution - coding silent(1)	kidney(1)											41	49	46					2																	241631411		2183	4285	6468	SO:0001819	synonymous_variant	375318			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.81C>A	2.37:g.241631411C>A				Silent	SNP	ENST00000337801.4	37																																																																																					0.687	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		A	241631411	C	A	241631411	2	1	403	1	0	0	0	0	0	0	0	1	824	610	22	4		4	AQP12A	2	241631411	Silent	SNP	C	TCGA-BP-4992-01A-01D-1462-08	39948444	241631411	1567962	8	22206											
MYL5	4636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	674308	674308	+	Silent	SNP	C	C	T	rs367674993		TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr4:674308C>T	ENST00000400159.2	+	5	408	c.303C>T	c.(301-303)gcC>gcT	p.A101A	MYL5_ENST00000506838.1_Silent_p.A60A|MYL5_ENST00000511290.1_Silent_p.A60A|MYL5_ENST00000505477.1_Silent_p.A60A	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	101	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of muscle contraction (GO:0006937)	muscle myosin complex (GO:0005859)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.A101A(1)		endometrium(1)|kidney(1)|lung(1)	3						GTACCGACGCCGAGGAGACCA	0.657																																																1	Substitution - coding silent(1)	kidney(1)						C		1,3897		0,1,1948	72	79	77		303	-7	0	4		77	1,8271		0,1,4135	no	coding-synonymous	MYL5	NM_002477.1		0,2,6083	TT,TC,CC		0.0121,0.0257,0.0164		101/174	674308	2,12168	1949	4136	6085	SO:0001819	synonymous_variant	4636				CCDS43197.1	4p16	2013-01-10	2006-09-29		ENSG00000215375	ENSG00000215375		"Myosins / Light chain", "EF-hand domain containing"	7586	protein-coding gene	gene with protein product		160782	"myosin, light polypeptide 5, regulatory"			1284596	Standard	NM_002477		Approved		uc003gav.3	Q02045	OTTHUMG00000159971	ENST00000400159.2:c.303C>T	4.37:g.674308C>T			Q8IXL8	Silent	SNP	ENST00000400159.2	37	CCDS43197.1																																																																																				0.657	MYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358570.2	NM_002477		T	674308	C	T	674308	2	4	403	1	0	0	0	0	0	0	0	1	10052	639	23	1		1	MYL5	4	674308	Silent	SNP	C	TCGA-BP-4992-01A-01D-1462-08		674308	190479968	9	22207											
BOD1L	259282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	13604991	13604992	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr4:13604991_13604992GC>CT	ENST00000040738.5	-	10	3667_3668	c.3532_3533GC>AG	c.(3532-3534)GCt>AGt	p.A1178S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1178						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A1178T(1)|p.A1178G(1)|p.A1178S(1)									ATAAGCTGGAGCTGTTGCTTTT	0.391																																																3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3532_3533delinsCT	4.37:g.13604991_13604992delinsCT	ENSP00000040738:p.Ala1178Ser		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.391	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		CT	13604992	GC	CT	13604991	3	2	403	1	0	0	0	0	1	0	0	0	1483	971	34	4	5690	4	BOD1L	4	13604991	Missense_Mutation	DNP	GC	TCGA-BP-4992-01A-01D-1462-08	12930683	13604991	177549285	10	22208											
FAM134B	54463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	16475310	16475310	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr5:16475310C>A	ENST00000306320.9	-	9	1120	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I	FAM134B_ENST00000399793.2_Missense_Mutation_p.R204I	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	345					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R345I(1)|p.R204I(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TGAAAGATCTCTAGAGAAAAC	0.388																																																2	Substitution - Missense(2)	kidney(2)											57	54	55					5																	16475310		1848	4089	5937	SO:0001583	missense	54463			BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.1034G>T	5.37:g.16475310C>A	ENSP00000304642:p.Arg345Ile		Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803271	0.90623	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	T;T	0.53423	0.69;0.62	6.03	6.03	0.97812	.	0.243006	0.40554	N	0.001061	T	0.70911	0.3278	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.942;0.974	T	0.71361	-0.4616	10	0.72032	D	0.01	-4.8177	20.5568	0.99304	0.0:1.0:0.0:0.0	rs34790415	345;204	Q9H6L5;Q9H6L5-2	F134B_HUMAN;.	I	204;345	ENSP00000382691:R204I;ENSP00000304642:R345I	ENSP00000304642:R345I	R	-	2	0	FAM134B	16528310	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.479000	0.53165	2.861000	0.98227	0.655000	0.94253	AGA		0.388	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		A	16475310	C	A	16475310	3	1	403	1	0	0	0	0	1	0	0	0	5448	913	32	4	463	4	FAM134B	5	16475310	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08		16475310	164439950	11	22209											
PCDHA12	56137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140257019	140257019	+	Silent	SNP	C	C	T			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr5:140257019C>T	ENST00000398631.2	+	1	1962	c.1962C>T	c.(1960-1962)caC>caT	p.H654H	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	654	Cadherin 6. {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)	p.H654H(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGACCACGGTGAGCCCG	0.692																																					Pancreas(113;759 1672 13322 24104 50104)											1	Substitution - coding silent(1)	kidney(1)											90	91	90					5																	140257019		2203	4299	6502	SO:0001819	synonymous_variant	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1962C>T	5.37:g.140257019C>T			O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																				0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		T	140257019	C	T	140257019	2	4	403	1	0	0	0	0	0	0	0	1	11524	535	19	1		1	PCDHA12	5	140257019	Silent	SNP	C	TCGA-BP-4992-01A-01D-1462-08	123781709	140257019	40658241	12	22210											
RNF130	55819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179382657	179382657	+	Silent	SNP	A	A	G			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr5:179382657A>G	ENST00000521389.1	-	9	1672	c.1257T>C	c.(1255-1257)ttT>ttC	p.F419F	RNF130_ENST00000261947.4_3'UTR|RNF130_ENST00000520564.1_5'UTR|RNF130_ENST00000522208.2_Intron	NM_018434.4	NP_060904.2			ring finger protein 130									p.F419F(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTTCTTCAAAACCATTCTA	0.338																																					GBM(24;432 554 38471 39699 51728)											1	Substitution - coding silent(1)	kidney(1)											65	68	67					5																	179382657		2202	4300	6502	SO:0001819	synonymous_variant	55819			AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000521389.1:c.1257T>C	5.37:g.179382657A>G				Silent	SNP	ENST00000521389.1	37	CCDS4451.1																																																																																				0.338	RNF130-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253499.3	NM_018434		G	179382657	A	G	179382657	2	3	403	1	0	0	0	0	0	0	0	1	13444	11	1	3		3	RNF130	5	179382657	Silent	SNP	A	TCGA-BP-4992-01A-01D-1462-08	39125638	179382657	1532603	13	22211											
C7orf25	79020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	42949681	42949681	+	Silent	SNP	C	C	T			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr7:42949681C>T	ENST00000350427.4	-	2	1094	c.819G>A	c.(817-819)gaG>gaA	p.E273E	C7orf25_ENST00000431882.2_Silent_p.E331E|C7orf25_ENST00000438029.1_Silent_p.E273E|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Silent_p.E273E			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	273								p.E273E(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TGAGCACTTTCTCTTTGAAAA	0.428																																																1	Substitution - coding silent(1)	kidney(1)											109	106	107					7																	42949681		2203	4300	6503	SO:0001819	synonymous_variant	79020			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.819G>A	7.37:g.42949681C>T			A4D1V2|J3KR36|Q9H779	Silent	SNP	ENST00000350427.4	37	CCDS5466.1																																																																																				0.428	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		T	42949681	C	T	42949681	2	4	403	1	0	0	0	0	0	0	0	1	2382	912	32	2		2	C7orf25	7	42949681	Silent	SNP	C	TCGA-BP-4992-01A-01D-1462-08		42949681	116188982	14	22212											
ATP6V0A4	50617	broad.mit.edu;hgsc.bcm.edu	37	7	138417644	138417644	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr7:138417644T>C	ENST00000310018.2	-	17	2168	c.1886A>G	c.(1885-1887)aAc>aGc	p.N629S	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.N629S|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.N629S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	629					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.N629S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAGGGGTGCGTTGGAAGAGTC	0.373																																																1	Substitution - Missense(1)	kidney(1)											103	99	100					7																	138417644		2203	4300	6503	SO:0001583	missense	50617			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1886A>G	7.37:g.138417644T>C	ENSP00000308122:p.Asn629Ser		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	T	9.940	1.217136	0.22373	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.84298	-1.83;-1.83;-1.83	5.88	4.73	0.59995	.	0.063541	0.64402	N	0.000005	T	0.77370	0.4120	L	0.37800	1.135	0.31792	N	0.629538	B	0.26363	0.147	B	0.28305	0.088	T	0.71813	-0.4479	10	0.15066	T	0.55	-27.936	11.6624	0.51354	0.0:0.0688:0.0:0.9312	.	629	Q9HBG4	VPP4_HUMAN	S	629	ENSP00000308122:N629S;ENSP00000376774:N629S;ENSP00000253856:N629S	ENSP00000308122:N629S	N	-	2	0	ATP6V0A4	138068184	0.546000	0.26457	0.013000	0.15412	0.013000	0.08279	0.969000	0.29370	1.055000	0.40461	0.533000	0.62120	AAC		0.373	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		C	138417644	T	C	138417644	3	2	403	1	0	0	0	0	1	0	0	0	1170	1725	60	3	660	3	ATP6V0A4	7	138417644	Missense_Mutation	SNP	T	TCGA-BP-4992-01A-01D-1462-08	95467963	138417644	20721019	15	22213											
PRSS37	136242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	141540818	141540818	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr7:141540818G>A	ENST00000350549.3	-	1	403	c.32C>T	c.(31-33)gCt>gTt	p.A11V	PRSS37_ENST00000438520.1_Missense_Mutation_p.A11V	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	11					binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.A11V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTACATACCAGCGAGGACACC	0.473																																																1	Substitution - Missense(1)	kidney(1)											168	140	150					7																	141540818		2203	4300	6503	SO:0001583	missense	136242				CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"Serine peptidases / Serine peptidases"	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.32C>T	7.37:g.141540818G>A	ENSP00000297767:p.Ala11Val		B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	G	8.663	0.900969	0.17760	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	D;D	0.92495	-3.05;-3.05	4.68	2.9	0.33743	Peptidase S1/S6, chymotrypsin/Hap (1);	0.713363	0.13383	N	0.391996	D	0.84669	0.5523	N	0.22421	0.69	0.25531	N	0.987273	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.75903	-0.3153	10	0.62326	D	0.03	.	7.3014	0.26422	0.1891:0.0:0.8109:0.0	.	11;11	B7ZMK3;A4D1T9	.;PRS37_HUMAN	V	11	ENSP00000297767:A11V;ENSP00000414461:A11V	ENSP00000297767:A11V	A	-	2	0	PRSS37	141187287	0.999000	0.42202	0.995000	0.50966	0.028000	0.11728	1.381000	0.34362	0.906000	0.36621	0.655000	0.94253	GCT		0.473	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270		A	141540818	G	A	141540818	3	1	403	1	0	0	0	0	1	0	0	0	12631	971	34	2	695	2	PRSS37	7	141540818	Missense_Mutation	SNP	G	TCGA-BP-4992-01A-01D-1462-08	3123174	141540818	17597845	16	22214											
RHEB	6009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151188050	151188050	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr7:151188050A>T	ENST00000262187.5	-	2	515	c.103T>A	c.(103-105)Tac>Aac	p.Y35N	RHEB_ENST00000496004.1_5'UTR|RHEB_ENST00000472642.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	35					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.Y35N(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GTTGGATCGTAGGAGTCCACA	0.358																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)											1	Substitution - Missense(1)	kidney(1)											103	100	101					7																	151188050		2203	4300	6503	SO:0001583	missense	6009			D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"Ras homolog enriched in brain 2"	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.103T>A	7.37:g.151188050A>T	ENSP00000262187:p.Tyr35Asn		B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	37	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708820	0.89018	.	.	ENSG00000106615	ENST00000262187	T	0.81247	-1.47	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93659	0.6980	10	0.87932	D	0	.	13.3975	0.60863	1.0:0.0:0.0:0.0	.	35	Q15382	RHEB_HUMAN	N	35	ENSP00000262187:Y35N	ENSP00000262187:Y35N	Y	-	1	0	RHEB	150818983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.143000	0.89621	2.051000	0.60960	0.533000	0.62120	TAC		0.358	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2	NM_005614		T	151188050	A	T	151188050	3	4	403	1	0	0	0	0	1	0	0	0	13334	420	15	5	479	5	RHEB	7	151188050	Missense_Mutation	SNP	A	TCGA-BP-4992-01A-01D-1462-08	9647232	151188050	7950613	17	22215											
MTAP	4507	broad.mit.edu;hgsc.bcm.edu	37	9	21818193	21818193	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr9:21818193C>G	ENST00000460874.2	+	4	615	c.390C>G	c.(388-390)ttC>ttG	p.F130L	MTAP_ENST00000580900.1_Missense_Mutation_p.F113L|MTAP_ENST00000427788.2_3'UTR|RP11-145E5.5_ENST00000404796.2_Missense_Mutation_p.F113L|MTAP_ENST00000380172.4_Missense_Mutation_p.F113L					methylthioadenosine phosphorylase									p.F113L(1)|p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		TTGATCAGTTCATTGACAGGT	0.488																																																3	Whole gene deletion(2)|Substitution - Missense(1)	lung(2)|kidney(1)											80	71	74					9																	21818193		2203	4300	6503	SO:0001583	missense	4507			AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"S-methyl-5'-thioadenosine phosphorylase"	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.390C>G	9.37:g.21818193C>G	ENSP00000461932:p.Phe130Leu			Missense_Mutation	SNP	ENST00000460874.2	37		.	.	.	.	.	.	.	.	.	.	C	17.24	3.339273	0.60963	.	.	ENSG00000099810	ENST00000380172	D	0.86366	-2.11	5.1	2.84	0.33178	Nucleoside phosphorylase domain (1);	0.136544	0.64402	D	0.000002	D	0.83225	0.5208	L	0.41961	1.31	0.80722	D	1	B;P;B	0.50528	0.241;0.936;0.242	B;P;B	0.48189	0.209;0.57;0.191	T	0.81351	-0.0972	10	0.48119	T	0.1	-7.5744	7.2994	0.26411	0.0:0.6805:0.0:0.3195	.	130;113;113	B4DUC8;F2Z2F3;Q13126	.;.;MTAP_HUMAN	L	113	ENSP00000369519:F113L	ENSP00000369519:F113L	F	+	3	2	MTAP	21808193	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	2.340000	0.43974	1.275000	0.44379	0.557000	0.71058	TTC		0.488	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451		G	21818193	C	G	21818193	3	3	403	1	0	0	0	0	1	0	0	0	9913	825	29	4	353	4	MTAP	9	21818193	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08		21818193	119395238	18	22216											
ABCA1	19	broad.mit.edu;hgsc.bcm.edu	37	9	107558674	107558674	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr9:107558674A>C	ENST00000374736.3	-	38	5547	c.5153T>G	c.(5152-5154)aTt>aGt	p.I1718S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1718					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.I1718S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GAAGATGATAATGACCAGTGT	0.433																																																1	Substitution - Missense(1)	kidney(1)											118	101	107					9																	107558674		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5153T>G	9.37:g.107558674A>C	ENSP00000363868:p.Ile1718Ser		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759217	0.69763	.	.	ENSG00000165029	ENST00000374736	D	0.88509	-2.39	5.67	4.52	0.55395	.	0.245187	0.47093	D	0.000252	D	0.90099	0.6907	M	0.75150	2.29	0.80722	D	1	B	0.23377	0.084	B	0.37239	0.244	D	0.88069	0.2799	10	0.87932	D	0	.	11.684	0.51474	0.9305:0.0:0.0695:0.0	.	1718	O95477	ABCA1_HUMAN	S	1718	ENSP00000363868:I1718S	ENSP00000363868:I1718S	I	-	2	0	ABCA1	106598495	1.000000	0.71417	0.910000	0.35882	0.998000	0.95712	7.481000	0.81124	1.074000	0.40909	0.533000	0.62120	ATT		0.433	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		C	107558674	A	C	107558674	3	2	403	1	0	0	0	0	1	0	0	0	28	101	4	5	1684	5	ABCA1	9	107558674	Missense_Mutation	SNP	A	TCGA-BP-4992-01A-01D-1462-08	85740481	107558674	33654757	19	22217											
FKBP15	23307	broad.mit.edu	37	9	115973865	115973865	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr9:115973865A>C	ENST00000238256.3	-	2	178	c.61T>G	c.(61-63)Ttg>Gtg	p.L21V		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	21					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.L21V(1)|p.L46V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AGTGAGGCCAATCTGGCACTG	0.423																																																2	Substitution - Missense(2)	kidney(2)											60	57	58					9																	115973865		1863	4114	5977	SO:0001583	missense	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.61T>G	9.37:g.115973865A>C	ENSP00000238256:p.Leu21Val		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278531	0.59758	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.72615	-0.43;-0.41;-0.67	5.23	2.92	0.33932	.	.	.	.	.	T	0.81983	0.4938	M	0.83603	2.65	0.35616	D	0.80901	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.994	T	0.83229	-0.0064	9	0.87932	D	0	-5.7272	6.586	0.22620	0.7306:0.0:0.2694:0.0	.	21;21;21	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	V	46;21;46	ENSP00000416158:L46V;ENSP00000238256:L21V;ENSP00000415733:L46V	ENSP00000238256:L21V	L	-	1	2	FKBP15	115013686	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	0.873000	0.28052	0.345000	0.23873	0.460000	0.39030	TTG		0.423	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		C	115973865	A	C	115973865	3	2	403	1	0	0	0	0	1	0	0	0	5907	98	4	5	3706	5	FKBP15	9	115973865	Missense_Mutation	SNP	A	TCGA-BP-4992-01A-01D-1462-08	8415191	115973865	25239566	20	22218											
WAC	51322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	28906668	28906668	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr10:28906668C>A	ENST00000354911.4	+	13	1990	c.1829C>A	c.(1828-1830)tCt>tAt	p.S610Y	WAC_ENST00000375664.4_Missense_Mutation_p.S565Y|WAC_ENST00000347934.4_Missense_Mutation_p.S507Y|WAC_ENST00000375646.1_Missense_Mutation_p.S458Y	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	610					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.S610Y(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AATTTAAGATCTTTAGTCCGA	0.318																																																1	Substitution - Missense(1)	kidney(1)											33	35	34					10																	28906668		2203	4298	6501	SO:0001583	missense	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1829C>A	10.37:g.28906668C>A	ENSP00000346986:p.Ser610Tyr		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113250	0.94339	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.995	D;D;D	0.83275	0.994;0.996;0.986	T	0.77011	-0.2746	10	0.87932	D	0	-10.7596	19.5403	0.95271	0.0:1.0:0.0:0.0	.	565;507;610	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	Y	565;458;507;610	ENSP00000364816:S565Y;ENSP00000364797:S458Y;ENSP00000311106:S507Y;ENSP00000346986:S610Y	ENSP00000311106:S507Y	S	+	2	0	WAC	28946674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.619000	0.88677	0.655000	0.94253	TCT		0.318	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		A	28906668	C	A	28906668	3	1	403	1	0	0	0	0	1	0	0	0	17252	913	32	4	1879	4	WAC	10	28906668	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08		28906668	106628079	21	22219											
INPP5A	3632	broad.mit.edu;ucsc.edu	37	10	134523924	134523924	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr10:134523924G>A	ENST00000368594.3	+	8	888	c.611G>A	c.(610-612)gGa>gAa	p.G204E	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Missense_Mutation_p.G204E	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	204					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)	p.G204E(2)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GTGTACTCGGGAATCCGGCAC	0.572																																					Pancreas(63;823 1267 11107 20380 51626)											2	Substitution - Missense(2)	kidney(2)											86	67	73					10																	134523924		2203	4300	6503	SO:0001583	missense	3632			X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.611G>A	10.37:g.134523924G>A	ENSP00000357583:p.Gly204Glu		D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728008	0.48833	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000536599;ENST00000432898;ENST00000423490	T;T;T	0.80653	-1.4;-1.4;1.47	4.56	4.56	0.56223	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.172208	0.50627	D	0.000105	T	0.81772	0.4893	L	0.31207	0.915	0.58432	D	0.999992	P;D;D	0.89917	0.594;1.0;0.961	B;D;P	0.85130	0.39;0.997;0.768	T	0.75485	-0.3301	10	0.02654	T	1	-10.2444	17.7848	0.88534	0.0:0.0:1.0:0.0	.	204;204;204	F5GWM1;Q14642;Q5T1B5	.;I5P1_HUMAN;.	E	204;204;204;141;121;127	ENSP00000357583:G204E;ENSP00000357582:G204E;ENSP00000390936:G127E	ENSP00000357582:G204E	G	+	2	0	INPP5A	134373914	1.000000	0.71417	0.866000	0.34008	0.976000	0.68499	4.685000	0.61693	2.281000	0.76405	0.650000	0.86243	GGA		0.572	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		A	134523924	G	A	134523924	3	1	403	1	0	0	0	0	1	0	0	0	7756	1174	41	2	641	2	INPP5A	10	134523924	Missense_Mutation	SNP	G	TCGA-BP-4992-01A-01D-1462-08	105617256	134523924	1010823	22	22220											
MICALCL	84953	broad.mit.edu	37	11	12316358	12316358	+	Silent	SNP	T	T	C			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr11:12316358T>C	ENST00000256186.2	+	3	1671	c.1380T>C	c.(1378-1380)ccT>ccC	p.P460P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	460	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.P460P(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ctcctcctcctcctcctcctc	0.587																																																1	Substitution - coding silent(1)	kidney(1)											11	12	12					11																	12316358		1930	4076	6006	SO:0001819	synonymous_variant	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1380T>C	11.37:g.12316358T>C			Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	CCDS41620.1																																																																																				0.587	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		C	12316358	T	C	12316358	2	2	403	1	0	0	0	0	0	0	0	1	9574	1538	54	3		3	MICALCL	11	12316358	Silent	SNP	T	TCGA-BP-4992-01A-01D-1462-08		12316358	122690158	23	22221											
BTG1	694	hgsc.bcm.edu;ucsc.edu	37	12	92539248	92539249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr12:92539248_92539249insG	ENST00000256015.3	-	1	424_425	c.63_64insC	c.(61-66)ttcatcfs	p.I22fs	RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000546975.1_5'Flank|C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	22					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				AACTTGGAGATGAAGGACACGG	0.703			T	MYC	BCLL																																		Dom	yes		12	12q22	694	"B-cell translocation gene 1, anti-proliferative"		L	0																																										SO:0001589	frameshift_variant	694				CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.64dupC	12.37:g.92539249_92539249dupG	ENSP00000256015:p.Ile22fs		P31607	Frame_Shift_Ins	INS	ENST00000256015.3	37	CCDS9043.1																																																																																				0.703	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			G	92539249	-	G	92539248	7	5	403	1	0	1	1	0	0	0	0	0	1555	1464	51	0	459	0	BTG1	12	92539248	Frame_Shift_Ins	INS	-	TCGA-BP-4992-01A-01D-1462-08		92539248	41312647	24	22222											
KIAA1033	23325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	105538583	105538583	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr12:105538583A>C	ENST00000332180.5	+	22	2354	c.2267A>C	c.(2266-2268)aAc>aCc	p.N756T		NM_015275.1	NP_056090.1			KIAA1033									p.N756T(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAGATGAGAAACTTAGCTACT	0.388																																																1	Substitution - Missense(1)	kidney(1)											138	131	133					12																	105538583		1917	4139	6056	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2267A>C	12.37:g.105538583A>C	ENSP00000328062:p.Asn756Thr			Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.376429	0.61735	.	.	ENSG00000136051	ENST00000332180	T	0.43688	0.94	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.53561	1.675	0.80722	D	1	B;B	0.15930	0.015;0.015	B;B	0.12837	0.008;0.008	T	0.19745	-1.0296	10	0.40728	T	0.16	.	15.9674	0.79985	1.0:0.0:0.0:0.0	.	757;756	B7ZKT9;Q2M389	.;WASH7_HUMAN	T	756	ENSP00000328062:N756T	ENSP00000328062:N756T	N	+	2	0	KIAA1033	104062713	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.283000	0.95860	2.170000	0.68504	0.477000	0.44152	AAC		0.388	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		C	105538583	A	C	105538583	3	2	403	1	0	0	0	0	1	0	0	0	8208	43	2	5	2353	5	KIAA1033	12	105538583	Missense_Mutation	SNP	A	TCGA-BP-4992-01A-01D-1462-08	12999335	105538583	28313312	25	22223											
CDC16	8881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	115007656	115007656	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr13:115007656C>A	ENST00000356221.3	+	6	550	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	CDC16_ENST00000375308.1_Missense_Mutation_p.L54M|CDC16_ENST00000252458.6_Missense_Mutation_p.L54M|MIR548AR_ENST00000582191.1_RNA|CDC16_ENST00000252457.5_Missense_Mutation_p.L147M|CDC16_ENST00000375310.1_Missense_Mutation_p.L54M|CDC16_ENST00000375312.3_Missense_Mutation_p.L54M|CDC16_ENST00000360383.3_Missense_Mutation_p.L148M			Q13042	CDC16_HUMAN	cell division cycle 16	148					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)		p.L147M(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TAACCGAACCCTGGCTACCTA	0.398																																																1	Substitution - Missense(1)	kidney(1)											137	138	137					13																	115007656		2203	4300	6503	SO:0001583	missense	8881			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.442C>A	13.37:g.115007656C>A	ENSP00000348554:p.Leu148Met		A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181064	0.38511	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T;T;T;T	0.74315	1.15;-0.83;1.15;1.15;-0.83	5.96	1.79	0.24919	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	L	0.35341	1.055	0.46028	D	0.998829	D;D;P;P	0.76494	0.999;0.967;0.936;0.883	D;P;P;P	0.83275	0.996;0.491;0.596;0.718	T	0.71636	-0.4533	9	.	.	.	-23.806	10.7718	0.46327	0.0:0.6526:0.0:0.3474	.	148;147;147;148	B4DK74;Q13042-3;Q13042-2;Q13042	.;.;.;CDC16_HUMAN	M	148;54;148;54;147;54;54	ENSP00000353549:L148M;ENSP00000364461:L54M;ENSP00000348554:L148M;ENSP00000252457:L147M;ENSP00000252458:L54M	.	L	+	1	2	CDC16	114025758	0.705000	0.27846	0.644000	0.29465	0.345000	0.29048	1.366000	0.34193	0.414000	0.25790	-0.140000	0.14226	CTG		0.398	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		A	115007656	C	A	115007656	3	1	403	1	0	0	0	0	1	0	0	0	3060	680	24	4	464	4	CDC16	13	115007656	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08		115007656	162222	26	22224											
SGK269	79834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	77406695	77406695	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr15:77406695G>A	ENST00000560626.2	-	7	5519	c.5044C>T	c.(5044-5046)Cct>Tct	p.P1682S	PEAK1_ENST00000312493.4_Missense_Mutation_p.P1682S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1682					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.P1682S(2)									ACTAGGCTAGGGCAGGCGGTG	0.552																																																2	Substitution - Missense(2)	kidney(2)											89	92	91					15																	77406695		1934	4127	6061	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.5044C>T	15.37:g.77406695G>A	ENSP00000452796:p.Pro1682Ser		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	0.545	-0.852028	0.02651	.	.	ENSG00000173517	ENST00000312493	T	0.67345	-0.26	5.57	-1.53	0.08611	.	0.391858	0.22617	U	0.057742	T	0.19765	0.0475	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	10	0.11182	T	0.66	-3.372	0.4347	0.00477	0.2199:0.2874:0.219:0.2737	.	1682	Q9H792	PEAK1_HUMAN	S	1682	ENSP00000309230:P1682S	ENSP00000309230:P1682S	P	-	1	0	AC087465.1	75193750	0.691000	0.27709	0.018000	0.16275	0.056000	0.15407	0.180000	0.16860	-0.001000	0.14495	-0.314000	0.08810	CCT		0.552	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			A	77406695	G	A	77406695	3	1	403	1	0	0	0	0	1	0	0	0	14217	1232	43	2	200	2	SGK269	15	77406695	Missense_Mutation	SNP	G	TCGA-BP-4992-01A-01D-1462-08		77406695	25124697	27	22225											
BNC1	646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	83935682	83935682	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr15:83935682C>T	ENST00000345382.2	-	3	426	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R107Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	114					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R114Q(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGAAGAGCCGGTCCAGTAG	0.502																																																1	Substitution - Missense(1)	kidney(1)											125	117	119					15																	83935682		2203	4300	6503	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.341G>A	15.37:g.83935682C>T	ENSP00000307041:p.Arg114Gln		Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	36	5.872996	0.97049	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.03635	3.86	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.00036	-1.2257	10	0.87932	D	0	-26.078	19.614	0.95622	0.0:1.0:0.0:0.0	.	107;114	F5GY04;Q01954	.;BNC1_HUMAN	Q	114;107	ENSP00000307041:R114Q	ENSP00000307041:R114Q	R	-	2	0	BNC1	81726686	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.573000	0.82421	2.873000	0.98535	0.561000	0.74099	CGG		0.502	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		T	83935682	C	T	83935682	3	4	403	1	0	0	0	0	1	0	0	0	1474	652	23	1	2655	1	BNC1	15	83935682	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08	6528987	83935682	18595710	28	22226											
MMP25	64386	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3100517	3100517	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr16:3100517G>A	ENST00000336577.4	+	4	868	c.631G>A	c.(631-633)Gat>Aat	p.D211N	RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	220					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D135N(1)|p.D211N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	TCACTTTGACGATGAGGAGAC	0.532																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)											2	Substitution - Missense(2)	kidney(2)											43	46	45					16																	3100517		2197	4300	6497	SO:0001583	missense	64386			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.631G>A	16.37:g.3100517G>A	ENSP00000337816:p.Asp211Asn		Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016733	0.75161	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.23950	1.88	5.08	4.11	0.48088	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.125962	0.35525	N	0.003156	T	0.46889	0.1416	M	0.67953	2.075	0.42892	D	0.994207	D;P	0.89917	1.0;0.846	D;B	0.77004	0.989;0.379	T	0.47535	-0.9110	10	0.66056	D	0.02	.	11.5972	0.50981	0.0899:0.0:0.9101:0.0	.	135;211	O43923;Q9NPA2	.;MMP25_HUMAN	N	211;138	ENSP00000337816:D211N	ENSP00000324953:D138N	D	+	1	0	MMP25	3040518	0.053000	0.20554	0.974000	0.42286	0.986000	0.74619	2.216000	0.42871	1.115000	0.41800	0.655000	0.94253	GAT		0.532	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		A	3100517	G	A	3100517	3	1	403	1	0	0	0	0	1	0	0	0	9664	1058	37	1	645	1	MMP25	16	3100517	Missense_Mutation	SNP	G	TCGA-BP-4992-01A-01D-1462-08		3100517	87254236	29	22227											
NOD2	64127	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	50733767	50733767	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr16:50733767C>T	ENST00000300589.2	+	2	547	c.442C>T	c.(442-444)Cat>Tat	p.H148Y	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	148	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.H148Y(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTCCACAGCCATGTGGAGAA	0.612																																																1	Substitution - Missense(1)	kidney(1)											60	56	57					16																	50733767		2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.442C>T	16.37:g.50733767C>T	ENSP00000300589:p.His148Tyr		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876181	0.51801	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.20200	2.44;2.09	5.29	5.29	0.74685	DEATH-like (2);Caspase Recruitment (2);	0.119241	0.37304	N	0.002142	T	0.42944	0.1225	L	0.59436	1.845	0.35652	D	0.811819	D	0.76494	0.999	D	0.83275	0.996	T	0.53599	-0.8416	10	0.72032	D	0.01	.	14.4281	0.67230	0.0:1.0:0.0:0.0	.	148	Q9HC29	NOD2_HUMAN	Y	121;121;148	ENSP00000431681:H121Y;ENSP00000300589:H148Y	ENSP00000300589:H148Y	H	+	1	0	NOD2	49291268	0.975000	0.34042	0.998000	0.56505	0.410000	0.31052	2.400000	0.44504	2.482000	0.83794	0.591000	0.81541	CAT		0.612	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		T	50733767	C	T	50733767	3	4	403	1	0	0	0	0	1	0	0	0	10519	594	21	2	448	2	NOD2	16	50733767	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08	47633250	50733767	39620986	30	22228											
KIAA0664	23277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	2596082	2596082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr17:2596082G>A	ENST00000570628.2	-	20	3292	c.3187C>T	c.(3187-3189)Cag>Tag	p.Q1063*	CLUH_ENST00000435359.1_Nonsense_Mutation_p.Q1063*|CLUH_ENST00000538975.1_Nonsense_Mutation_p.Q1063*			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1063					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.Q1064*(2)									ACGTATTCCTGGATGGTGTTG	0.697																																																2	Substitution - Nonsense(2)	kidney(2)											44	50	48					17																	2596082		2116	4218	6334	SO:0001587	stop_gained	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3187C>T	17.37:g.2596082G>A	ENSP00000458986:p.Gln1063*		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Nonsense_Mutation	SNP	ENST00000570628.2	37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	G	42	9.796768	0.99266	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	17.9685	0.89106	0.0:0.0:1.0:0.0	.	.	.	.	X	1063;1064;1063	.	ENSP00000320468:Q1064X	Q	-	1	0	KIAA0664	2542832	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.004000	0.88535	2.494000	0.84150	0.561000	0.74099	CAG		0.697	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		A	2596082	G	A	2596082	4	1	403	1	0	0	0	0	0	1	0	0	8191	1357	47	2	770	2	KIAA0664	17	2596082	Nonsense_Mutation	SNP	G	TCGA-BP-4992-01A-01D-1462-08		2596082	78599128	31	22229											
ACE	1636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61555382	61555382	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr17:61555382G>A	ENST00000290866.4	+	2	364	c.340G>A	c.(340-342)Gac>Aac	p.D114N	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.D114N|ACE_ENST00000538928.1_Missense_Mutation_p.D114N	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	114	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.D114N(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAACTTCACGGACCCGCAGCT	0.647																																																1	Substitution - Missense(1)	kidney(1)											35	31	32					17																	61555382		2201	4300	6501	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.340G>A	17.37:g.61555382G>A	ENSP00000290866:p.Asp114Asn		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890847	0.33348	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.37235	1.21;1.21;1.21	5.37	3.37	0.38596	.	0.314439	0.36703	N	0.002448	T	0.35248	0.0925	L	0.39514	1.22	0.80722	D	1	B;B;B	0.27971	0.005;0.021;0.196	B;B;B	0.39503	0.005;0.029;0.301	T	0.10359	-1.0633	10	0.30854	T	0.27	-31.9186	12.08	0.53665	0.1408:0.0:0.8592:0.0	.	114;114;114	F5H1K1;B4DU66;P12821	.;.;ACE_HUMAN	N	114	ENSP00000439591:D114N;ENSP00000290866:D114N;ENSP00000397593:D114N	ENSP00000290866:D114N	D	+	1	0	ACE	58909114	0.994000	0.37717	0.318000	0.25279	0.429000	0.31625	2.423000	0.44705	0.747000	0.32809	0.561000	0.74099	GAC		0.647	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			A	61555382	G	A	61555382	3	1	403	1	0	0	0	0	1	0	0	0	136	1174	41	2	346	2	ACE	17	61555382	Missense_Mutation	SNP	G	TCGA-BP-4992-01A-01D-1462-08	58959300	61555382	19639828	32	22230											
ZNF407	55628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72346181	72346181	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr18:72346181A>C	ENST00000299687.5	+	1	3206	c.3206A>C	c.(3205-3207)aAg>aCg	p.K1069T	ZNF407_ENST00000582337.1_Missense_Mutation_p.K1069T|ZNF407_ENST00000309902.6_Missense_Mutation_p.K1069T|ZNF407_ENST00000577538.1_Missense_Mutation_p.K1069T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1069					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K1069T(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCAACAGAGAAGCACAAAATG	0.428																																																2	Substitution - Missense(2)	kidney(2)											73	72	72					18																	72346181		2036	4206	6242	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3206A>C	18.37:g.72346181A>C	ENSP00000299687:p.Lys1069Thr		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311999	0.81358	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.27104	1.78;1.69	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.062073	0.64402	D	0.000008	T	0.42449	0.1203	L	0.32530	0.975	0.40056	D	0.975834	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.02037	-1.1225	10	0.33940	T	0.23	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1069;1069;1069	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	T	1069	ENSP00000299687:K1069T;ENSP00000310359:K1069T	ENSP00000299687:K1069T	K	+	2	0	ZNF407	70475169	1.000000	0.71417	0.973000	0.42090	0.934000	0.57294	7.165000	0.77544	-0.633000	0.05545	-1.148000	0.01847	AAG		0.428	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		C	72346181	A	C	72346181	3	2	403	1	0	0	0	0	1	0	0	0	17892	72	3	5	3208	5	ZNF407	18	72346181	Missense_Mutation	SNP	A	TCGA-BP-4992-01A-01D-1462-08		72346181	5731067	33	22231											
MYO1F	4542	broad.mit.edu;hgsc.bcm.edu	37	19	8606866	8606866	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr19:8606866C>T	ENST00000338257.8	-	15	1801	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	512	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D512N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCGCTGACGTCGTAGGAGACC	0.612																																																1	Substitution - Missense(1)	kidney(1)											44	48	47					19																	8606866		2082	4226	6308	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1534G>A	19.37:g.8606866C>T	ENSP00000344871:p.Asp512Asn		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	9.796	1.179359	0.21787	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95171	-3.63	4.95	1.59	0.23543	Myosin head, motor domain (2);	0.208574	0.38959	N	0.001506	D	0.84665	0.5522	N	0.16016	0.355	0.48341	D	0.999635	B	0.15473	0.013	B	0.15052	0.012	T	0.70385	-0.4886	10	0.21014	T	0.42	.	4.7157	0.12894	0.1493:0.6008:0.0:0.2499	.	512	O00160	MYO1F_HUMAN	N	557;512	ENSP00000344871:D512N	ENSP00000304899:D557N	D	-	1	0	MYO1F	8512866	0.941000	0.31946	0.760000	0.31359	0.984000	0.73092	2.090000	0.41682	0.139000	0.18822	0.462000	0.41574	GAC		0.612	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			T	8606866	C	T	8606866	3	4	403	1	0	0	0	0	1	0	0	0	10075	884	31	1	1818	1	MYO1F	19	8606866	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08		8606866	50522117	34	22232											
SMARCA4	6597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11143976	11143976	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr19:11143976C>G	ENST00000429416.3	+	27	3838	c.3557C>G	c.(3556-3558)gCg>gGg	p.A1186G	SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1186G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1186G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1186G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1186G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1186G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1186G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1186G|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A1186G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1186	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A1186G(2)|p.A1186V(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACCTGCAAGCGCAGGACCGA	0.622			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	4	Substitution - Missense(3)|Unknown(1)	kidney(2)|large_intestine(1)|lung(1)											46	47	47					19																	11143976		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3557C>G	19.37:g.11143976C>G	ENSP00000395654:p.Ala1186Gly		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302270	0.81136	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.124305	0.53938	D	0.000056	D	0.93530	0.7935	H	0.99525	4.61	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.986;0.996;1.0;0.986	D	0.96338	0.9249	10	0.87932	D	0	-24.4926	16.7067	0.85374	0.0:1.0:0.0:0.0	.	1186;1186;1186;1186;1186;406;1186	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	G	1186;1186;1250;1186;1186;1186;1186;1186	ENSP00000395654:A1186G;ENSP00000350720:A1186G;ENSP00000343896:A1186G;ENSP00000445036:A1186G;ENSP00000392837:A1186G;ENSP00000397783:A1186G;ENSP00000414727:A1186G	ENSP00000343896:A1186G	A	+	2	0	SMARCA4	11004976	1.000000	0.71417	0.904000	0.35570	0.891000	0.51852	7.383000	0.79741	2.488000	0.83962	0.558000	0.71614	GCG		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		G	11143976	C	G	11143976	3	3	403	1	0	0	0	0	1	0	0	0	14776	768	27	4	3655	4	SMARCA4	19	11143976	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08	2537110	11143976	47985007	35	22233											
KCNN1	3780	broad.mit.edu	37	19	18104303	18104303	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr19:18104303C>T	ENST00000222249.9	+	10	1631	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	438	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.R455W(2)		endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CCACAGGCTCCGGAGTGTGAA	0.647																																																2	Substitution - Missense(2)	kidney(2)											36	38	37					19																	18104303		1917	4121	6038	SO:0001583	missense	3780			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1312C>T	19.37:g.18104303C>T	ENSP00000476519:p.Arg438Trp		Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37		.	.	.	.	.	.	.	.	.	.	C	18.57	3.652665	0.67472	.	.	ENSG00000105642	ENST00000222249	.	.	.	4.52	2.19	0.27852	Calmodulin-binding domain (2);	0.057260	0.64402	D	0.000002	T	0.78892	0.4355	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80888	-0.1181	9	0.87932	D	0	-24.5256	10.471	0.44638	0.4004:0.5996:0.0:0.0	.	438	Q92952	KCNN1_HUMAN	W	455	.	ENSP00000222249:R455W	R	+	1	2	KCNN1	17965303	0.192000	0.23301	0.998000	0.56505	0.866000	0.49608	0.082000	0.14847	0.850000	0.35239	0.462000	0.41574	CGG		0.647	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		T	18104303	C	T	18104303	3	4	403	1	0	0	0	0	1	0	0	0	8080	643	23	1	1342	1	KCNN1	19	18104303	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08	6960327	18104303	41024680	36	22234											
C19orf55	148137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36258775	36258775	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr19:36258775C>A	ENST00000544099.1	+	9	1091	c.1028C>A	c.(1027-1029)cCt>cAt	p.P343H	C19orf55_ENST00000396908.4_Missense_Mutation_p.P343H|AC002398.13_ENST00000589397.1_RNA			Q2NL68	PRSR3_HUMAN		343								p.P343H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAAGCCACTCCTTCCCCTGGA	0.657																																																1	Substitution - Missense(1)	kidney(1)											17	21	20					19																	36258775		1947	4137	6084	SO:0001583	missense	148137																														ENST00000544099.1:c.1028C>A	19.37:g.36258775C>A	ENSP00000467267:p.Pro343His		Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37		.	.	.	.	.	.	.	.	.	.	C	15.26	2.779441	0.49891	.	.	ENSG00000167595	ENST00000396908	T	0.48201	0.82	3.46	-0.495	0.12030	.	.	.	.	.	T	0.51363	0.1670	M	0.64997	1.995	0.09310	N	1	D	0.61697	0.99	P	0.53450	0.726	T	0.43814	-0.9368	9	0.87932	D	0	-4.1379	6.0603	0.19835	0.0:0.4144:0.4677:0.1179	.	343	E5RFB9	.	H	343	ENSP00000380116:P343H	ENSP00000380116:P343H	P	+	2	0	C19orf55	40950615	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.260000	0.08708	0.034000	0.15491	0.563000	0.77884	CCT		0.657	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			A	36258775	C	A	36258775	3	1	403	1	0	0	0	0	1	0	0	0	1939	681	24	4	1062	4	C19orf55	19	36258775	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08	18154472	36258775	22870208	37	22235											
PNKP	11284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50364761	50364761	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr19:50364761C>G	ENST00000322344.3	-	16	1502	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	PNKP_ENST00000600573.1_Missense_Mutation_p.E434Q|PNKP_ENST00000596014.1_Missense_Mutation_p.E465Q|AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000593654.1_RNA|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000599259.1_RNA|PNKP_ENST00000600910.1_Missense_Mutation_p.R428T	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	465	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.E465Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TCCGTCATCTCTCGAAACTGT	0.657								Other BER factors																																								2	Substitution - Missense(2)	kidney(2)											78	73	75					19																	50364761		2203	4300	6503	SO:0001583	missense	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1393G>C	19.37:g.50364761C>G	ENSP00000323511:p.Glu465Gln		Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727617	0.48833	.	.	ENSG00000039650	ENST00000322344	T	0.45276	0.9	4.18	4.18	0.49190	.	0.314836	0.28504	N	0.015120	T	0.48370	0.1496	L	0.59436	1.845	0.58432	D	0.999997	P;D	0.52996	0.839;0.957	P;P	0.52159	0.599;0.691	T	0.40515	-0.9559	10	0.33940	T	0.23	-18.7202	12.1991	0.54315	0.0:1.0:0.0:0.0	.	426;465	Q9BUL2;Q96T60	.;PNKP_HUMAN	Q	465	ENSP00000323511:E465Q	ENSP00000323511:E465Q	E	-	1	0	PNKP	55056573	0.928000	0.31464	0.999000	0.59377	0.056000	0.15407	1.833000	0.39161	2.345000	0.79718	0.563000	0.77884	GAG		0.657	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		G	50364761	C	G	50364761	3	3	403	1	0	0	0	0	1	0	0	0	12149	922	32	4	180	4	PNKP	19	50364761	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08	14105986	50364761	8764222	38	22236											
ZNF473	25888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50550275	50550275	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr19:50550275C>G	ENST00000595661.1	+	6	3070	c.2575C>G	c.(2575-2577)Cgc>Ggc	p.R859G	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.R859G|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.R859G|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.R847G			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	859					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R859G(1)|p.R859C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAGCCTCAGCCGCCATCAGCG	0.532											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(1)|skin(1)											36	39	38					19																	50550275		2177	4277	6454	SO:0001583	missense	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2575C>G	19.37:g.50550275C>G	ENSP00000472808:p.Arg859Gly	970	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.715093	0.30413	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.30714	1.52;1.52;1.52	4.38	-3.87	0.04218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.191019	0.25047	N	0.033560	T	0.21590	0.0520	L	0.60845	1.875	0.09310	N	1	B	0.26602	0.154	B	0.16289	0.015	T	0.25257	-1.0137	10	0.21540	T	0.41	-7.3368	10.2893	0.43586	0.7169:0.1751:0.108:0.0	.	859	Q8WTR7	ZN473_HUMAN	G	859;859;847	ENSP00000270617:R859G;ENSP00000375697:R859G;ENSP00000388961:R847G	ENSP00000270617:R859G	R	+	1	0	ZNF473	55242087	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.903000	0.00703	-0.533000	0.06323	0.655000	0.94253	CGC		0.532	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		G	50550275	C	G	50550275	3	3	403	1	0	0	0	0	1	0	0	0	17936	652	23	4	2589	4	ZNF473	19	50550275	Missense_Mutation	SNP	C	TCGA-BP-4992-01A-01D-1462-08	185514	50550275	8578708	39	22237											
SLC13A3	64849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	45239178	45239178	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr20:45239178T>C	ENST00000279027.4	-	3	466	c.448A>G	c.(448-450)Atg>Gtg	p.M150V	SLC13A3_ENST00000413164.2_Missense_Mutation_p.M150V|SLC13A3_ENST00000339636.3_Missense_Mutation_p.M150V|SLC13A3_ENST00000495082.1_Missense_Mutation_p.M103V|SLC13A3_ENST00000472148.1_Missense_Mutation_p.M103V|SLC13A3_ENST00000372121.1_Missense_Mutation_p.M150V|SLC13A3_ENST00000417157.2_Missense_Mutation_p.M103V|SLC13A3_ENST00000396360.1_Missense_Mutation_p.M103V|SLC13A3_ENST00000290317.5_Missense_Mutation_p.M103V|SLC13A3_ENST00000435032.1_5'UTR	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	150					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.M150V(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGAAGCATCATGGCAGTGGAG	0.547																																																2	Substitution - Missense(2)	kidney(2)											195	177	183					20																	45239178		2203	4300	6503	SO:0001583	missense	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.448A>G	20.37:g.45239178T>C	ENSP00000279027:p.Met150Val		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624257	0.66901	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121;ENST00000417157;ENST00000339636	T;T;T;T;T;T;T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07	5.63	5.63	0.86233	.	0.039081	0.85682	D	0.000000	T	0.19485	0.0468	M	0.79258	2.445	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.991;0.999	D;D;D;D;D	0.85130	0.996;0.994;0.997;0.989;0.996	T	0.00149	-1.1987	10	0.87932	D	0	-35.3871	16.1297	0.81418	0.0:0.0:0.0:1.0	.	150;103;103;103;150	B4DIR8;Q8WWT9-3;F6WI18;C9J4A3;Q8WWT9	.;.;.;.;S13A3_HUMAN	V	103;103;150;103;150;103;103;113;150;103;150	ENSP00000290317:M103V;ENSP00000379648:M103V;ENSP00000279027:M150V;ENSP00000420177:M103V;ENSP00000415852:M150V;ENSP00000419621:M103V;ENSP00000417784:M103V;ENSP00000395095:M113V;ENSP00000361193:M150V;ENSP00000397955:M103V;ENSP00000344912:M150V	ENSP00000279027:M150V	M	-	1	0	SLC13A3	44672585	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.997000	0.88414	2.270000	0.75569	0.460000	0.39030	ATG		0.547	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			C	45239178	T	C	45239178	3	2	403	1	0	0	0	0	1	0	0	0	14399	1464	51	3	1404	3	SLC13A3	20	45239178	Missense_Mutation	SNP	T	TCGA-BP-4992-01A-01D-1462-08		45239178	17786342	40	22238											
FBLN1	2192	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45960802	45960802	+	Intron	SNP	G	G	A	rs564987976		TCGA-BP-4992-01A-01D-1462-08	TCGA-BP-4992-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39df0e80-84d8-4ed8-9273-4743b14ee408	576f56ed-b2c7-4c79-ab0a-5bdc6b472431	g.chr22:45960802G>A	ENST00000327858.6	+	15	1792				FBLN1_ENST00000442170.2_Missense_Mutation_p.G579E|FBLN1_ENST00000348697.2_Missense_Mutation_p.G579E	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.G579E(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ACCCCAGCGGGATCAAGTAAA	0.532																																																1	Substitution - Missense(1)	kidney(1)											118	103	108					22																	45960802		2203	4300	6503	SO:0001627	intron_variant	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1698-9589G>A	22.37:g.45960802G>A			B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	4.934	0.173525	0.09391	.	.	ENSG00000077942	ENST00000348697;ENST00000442170	D;D	0.82526	-1.52;-1.62	1.58	0.469	0.16741	.	.	.	.	.	T	0.62986	0.2473	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44726	-0.9309	9	0.18710	T	0.47	.	3.21	0.06678	0.7285:0.0:0.2715:0.0	.	579	B1AHL4	.	E	579	ENSP00000262723:G579E;ENSP00000393812:G579E	ENSP00000262723:G579E	G	+	2	0	FBLN1	44339466	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.059000	0.14322	0.087000	0.17167	-0.373000	0.07131	GGA		0.532	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		A	45960802	G	A	45960802	1	1	403	0	1	0	0	0	0	0	0	0	5700	1174	41	2		2	FBLN1	22	45960802	Intron	SNP	G	TCGA-BP-4992-01A-01D-1462-08		45960802	5343764	41	22239											
GNB1	2782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1749311	1749311	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:1749311C>A	ENST00000378609.4	-	4	392	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	21					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.A21S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTTTCCTGGCGTCCTGGGAA	0.507																																																1	Substitution - Missense(1)	kidney(1)											87	76	79					1																	1749311		2203	4300	6503	SO:0001583	missense	2782			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.61G>T	1.37:g.1749311C>A	ENSP00000367872:p.Ala21Ser		B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546916	0.27652	.	.	ENSG00000078369	ENST00000378609;ENST00000378606;ENST00000434686;ENST00000437146	T;T;T	0.01323	5.01;5.01;5.01	4.92	4.92	0.64577	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.03827	0.0108	M	0.86953	2.85	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.40001	-0.9586	10	0.15952	T	0.53	-12.7427	16.6803	0.85290	0.0:1.0:0.0:0.0	.	21	P62873	GBB1_HUMAN	S	21	ENSP00000367872:A21S;ENSP00000392765:A21S;ENSP00000416651:A21S	ENSP00000367869:A21S	A	-	1	0	GNB1	1739171	1.000000	0.71417	0.994000	0.49952	0.674000	0.39518	7.189000	0.77747	2.284000	0.76573	0.655000	0.94253	GCC		0.507	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		A	1749311	C	A	1749311	3	1	404	1	0	0	0	0	1	0	0	0	6517	768	27	4	993	4	GNB1	1	1749311	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08		1749311	247501310	1	22240											
NPPB	4879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11918438	11918438	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:11918438G>A	ENST00000376468.3	-	2	318	c.221C>T	c.(220-222)aCa>aTa	p.T74I		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	74					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.T74I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	CCAGACACCTGTGGGACGGGG	0.632																																																1	Substitution - Missense(1)	kidney(1)											31	34	33					1																	11918438		2203	4300	6503	SO:0001583	missense	4879			BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"Endogenous ligands"	7940	protein-coding gene	gene with protein product		600295	"natriuretic peptide precursor B"			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.221C>T	1.37:g.11918438G>A	ENSP00000365651:p.Thr74Ile		B0ZBE9|Q6FGY0|Q9P2Q7	Missense_Mutation	SNP	ENST00000376468.3	37	CCDS140.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472840	0.26423	.	.	ENSG00000120937	ENST00000376468	T	0.23552	1.9	4.31	-0.575	0.11734	.	.	.	.	.	T	0.14485	0.0350	L	0.40543	1.245	0.09310	N	1	P	0.35077	0.483	B	0.27608	0.081	T	0.18053	-1.0349	9	0.41790	T	0.15	.	2.3771	0.04345	0.1063:0.1562:0.4195:0.3179	.	74	P16860	ANFB_HUMAN	I	74	ENSP00000365651:T74I	ENSP00000365651:T74I	T	-	2	0	NPPB	11841025	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.052000	0.14163	0.033000	0.15463	0.561000	0.74099	ACA		0.632	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		A	11918438	G	A	11918438	3	1	404	1	0	0	0	0	1	0	0	0	10594	1377	48	2	191	2	NPPB	1	11918438	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08	10169127	11918438	237332183	2	22241											
ECE1	1889	broad.mit.edu;hgsc.bcm.edu	37	1	21616586	21616586	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:21616586C>T	ENST00000374893.6	-	2	189	c.115G>A	c.(115-117)Gac>Aac	p.D39N	ECE1_ENST00000415912.2_Missense_Mutation_p.D23N|ECE1_ENST00000436918.2_Missense_Mutation_p.D39N|ECE1_ENST00000264205.6_Missense_Mutation_p.D36N	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	39					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.D39N(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGGTATGCGTCGCCCTCGGAG	0.731																																																1	Substitution - Missense(1)	kidney(1)											33	30	31					1																	21616586		2201	4297	6498	SO:0001583	missense	1889			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.115G>A	1.37:g.21616586C>T	ENSP00000364028:p.Asp39Asn		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127090	0.37533	.	.	ENSG00000117298	ENST00000415912;ENST00000374893;ENST00000436918;ENST00000264205;ENST00000481130;ENST00000527991	D;D;D;D;D	0.92446	-1.57;-1.56;-1.5;-1.56;-3.04	4.8	4.8	0.61643	.	0.715819	0.13836	N	0.359379	D	0.87485	0.6189	L	0.40543	1.245	0.45676	D	0.998594	P;P;P;P	0.38745	0.645;0.491;0.491;0.625	B;B;B;B	0.35039	0.058;0.095;0.095;0.194	D	0.84565	0.0652	10	0.17369	T	0.5	-7.7932	15.7117	0.77631	0.0:1.0:0.0:0.0	.	39;23;39;36	B4DKB2;Q2Z2K8;P42892;P42892-4	.;.;ECE1_HUMAN;.	N	23;39;39;36;25;22	ENSP00000405088:D23N;ENSP00000364028:D39N;ENSP00000388439:D39N;ENSP00000264205:D36N;ENSP00000436633:D25N	ENSP00000264205:D36N	D	-	1	0	ECE1	21489173	1.000000	0.71417	0.988000	0.46212	0.123000	0.20343	6.185000	0.72013	2.373000	0.80994	0.555000	0.69702	GAC		0.731	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		T	21616586	C	T	21616586	3	4	404	1	0	0	0	0	1	0	0	0	4891	884	31	1	2371	1	ECE1	1	21616586	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	9698148	21616586	227634035	3	22242											
LUZP1	7798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	23418890	23418890	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:23418890G>A	ENST00000302291.4	-	4	2666	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L	LUZP1_ENST00000374623.3_Missense_Mutation_p.S622L|LUZP1_ENST00000418342.1_Missense_Mutation_p.S622L|LUZP1_ENST00000314174.5_Missense_Mutation_p.S622L			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	622					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.S622L(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCTTTATGTGAGGTTGAAAA	0.473																																																1	Substitution - Missense(1)	kidney(1)											167	168	168					1																	23418890		2203	4300	6503	SO:0001583	missense	7798			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1865C>T	1.37:g.23418890G>A	ENSP00000303758:p.Ser622Leu		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	1.381	-0.583511	0.03827	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.12879	2.87;2.87;2.87;2.64	5.88	3.69	0.42338	.	0.630291	0.14125	N	0.339767	T	0.04815	0.0130	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37979	-0.9682	10	0.22706	T	0.39	.	7.3549	0.26713	0.3065:0.0:0.6935:0.0	.	622;622	Q86V48-2;Q86V48	.;LUZP1_HUMAN	L	622	ENSP00000393460:S622L;ENSP00000363752:S622L;ENSP00000303758:S622L;ENSP00000313705:S622L	ENSP00000303758:S622L	S	-	2	0	LUZP1	23291477	0.015000	0.18098	0.008000	0.14137	0.151000	0.21798	0.693000	0.25497	1.509000	0.48786	0.650000	0.86243	TCA		0.473	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		A	23418890	G	A	23418890	3	1	404	1	0	0	0	0	1	0	0	0	9088	1294	45	2	1373	2	LUZP1	1	23418890	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08	1802304	23418890	225831731	4	22243											
OPRD1	4985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29189406	29189406	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:29189406C>T	ENST00000234961.2	+	3	972	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	244					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)	p.R244C(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GCGCAGTGTGCGCCTGCTGTC	0.642																																																1	Substitution - Missense(1)	kidney(1)											88	69	76					1																	29189406		2203	4300	6503	SO:0001583	missense	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.730C>T	1.37:g.29189406C>T	ENSP00000234961:p.Arg244Cys		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993130	0.74703	.	.	ENSG00000116329	ENST00000234961	T	0.40225	1.04	4.54	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.058991	0.64402	D	0.000001	T	0.64103	0.2568	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.63932	-0.6525	10	0.72032	D	0.01	.	6.7912	0.23701	0.1755:0.7297:0.0:0.0949	.	244	P41143	OPRD_HUMAN	C	244	ENSP00000234961:R244C	ENSP00000234961:R244C	R	+	1	0	OPRD1	29061993	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.601000	0.82783	0.497000	0.27926	0.462000	0.41574	CGC		0.642	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		T	29189406	C	T	29189406	3	4	404	1	0	0	0	0	1	0	0	0	10886	768	27	1	740	1	OPRD1	1	29189406	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	5770516	29189406	220061215	5	22244											
EIF2C4	192670	hgsc.bcm.edu;ucsc.edu	37	1	36290935	36290935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:36290935delC	ENST00000373210.3	+	4	573	c.328delC	c.(328-330)ccafs	p.P110fs		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	110					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GGTGACTCTTCCAGGCGAGGG	0.408																																																0													207	203	205					1																	36290935		2203	4300	6503	SO:0001589	frameshift_variant	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.328delC	1.37:g.36290935delC	ENSP00000362306:p.Pro110fs		A7MD27	Frame_Shift_Del	DEL	ENST00000373210.3	37	CCDS397.1																																																																																				0.408	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		-	36290935	C	-	36290935	7	5	404	1	0	1	0	1	0	0	0	0	5010	855	30	0	342	0	EIF2C4	1	36290935	Frame_Shift_Del	DEL	C	TCGA-BP-4993-01A-02D-1421-08	7101529	36290935	212959686	6	22245											
NEGR1	257194	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	72748110	72748110	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:72748110C>T	ENST00000357731.5	-	1	307	c.68G>A	c.(67-69)aGc>aAc	p.S23N	NEGR1_ENST00000434200.1_Missense_Mutation_p.S21N	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	23					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S23N(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCAGCACAGGCTGAGGAGCAC	0.627																																																1	Substitution - Missense(1)	kidney(1)											83	69	74					1																	72748110		2203	4300	6503	SO:0001583	missense	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.68G>A	1.37:g.72748110C>T	ENSP00000350364:p.Ser23Asn		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260309	0.59431	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.72725	0.59;-0.68	5.25	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.19112	0.55	0.38063	D	0.936135	B;B	0.30482	0.221;0.281	B;B	0.27076	0.027;0.076	T	0.28170	-1.0052	10	0.25751	T	0.34	-6.3905	13.6553	0.62336	0.0:0.8436:0.1564:0.0	.	21;23	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	N	23;21	ENSP00000350364:S23N;ENSP00000413294:S21N	ENSP00000350364:S23N	S	-	2	0	NEGR1	72520698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.916000	0.56416	1.192000	0.43071	0.561000	0.74099	AGC		0.627	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		T	72748110	C	T	72748110	3	4	404	1	0	0	0	0	1	0	0	0	10319	797	28	2	1024	2	NEGR1	1	72748110	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	36457175	72748110	176502511	7	22246											
WDR63	126820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	85546974	85546974	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:85546974G>A	ENST00000294664.6	+	4	341	c.161G>A	c.(160-162)tGc>tAc	p.C54Y	WDR63_ENST00000370596.1_Missense_Mutation_p.C54Y|WDR63_ENST00000326813.8_Missense_Mutation_p.C54Y	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	54								p.C54Y(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATATTTAACTGCCGAATAGAT	0.363																																																1	Substitution - Missense(1)	kidney(1)											108	107	107					1																	85546974		2203	4300	6503	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.161G>A	1.37:g.85546974G>A	ENSP00000294664:p.Cys54Tyr		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919629	0.73098	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000528899	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.84	4.91	0.64330	.	0.088427	0.85682	D	0.000000	T	0.64193	0.2576	M	0.83012	2.62	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.72567	-0.4254	10	0.87932	D	0	-5.2247	15.0757	0.72074	0.0:0.0:0.7425:0.2575	.	54;54	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	Y	54;54;54;41	ENSP00000359628:C54Y;ENSP00000317463:C54Y;ENSP00000294664:C54Y;ENSP00000435102:C41Y	ENSP00000294664:C54Y	C	+	2	0	WDR63	85319562	1.000000	0.71417	0.992000	0.48379	0.928000	0.56348	6.096000	0.71446	1.415000	0.47037	0.650000	0.86243	TGC		0.363	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		A	85546974	G	A	85546974	3	1	404	1	0	0	0	0	1	0	0	0	17319	1319	46	2	171	2	WDR63	1	85546974	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08	12798864	85546974	163703647	8	22247											
CDC14A	8556	broad.mit.edu	37	1	100964716	100964716	+	Silent	SNP	A	A	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:100964716A>T	ENST00000336454.3	+	15	2008	c.1653A>T	c.(1651-1653)ccA>ccT	p.P551P	CDC14A_ENST00000544534.1_Silent_p.P551P|CDC14A_ENST00000542213.1_Silent_p.P493P|CDC14A_ENST00000361544.6_Silent_p.P551P|CDC14A_ENST00000370125.2_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	551					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P551P(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		ACAGCCCCCCAGGCCCCCACA	0.562																																																1	Substitution - coding silent(1)	kidney(1)											86	94	91					1																	100964716		2203	4300	6503	SO:0001819	synonymous_variant	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1653A>T	1.37:g.100964716A>T			A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	CCDS769.1																																																																																				0.562	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		T	100964716	A	T	100964716	2	4	404	1	0	0	0	0	0	0	0	1	3058	175	7	5		5	CDC14A	1	100964716	Silent	SNP	A	TCGA-BP-4993-01A-02D-1421-08	15417742	100964716	148285905	9	22248											
PRPF3	9129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150310685	150310685	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:150310685C>G	ENST00000324862.6	+	8	1250	c.1085C>G	c.(1084-1086)aCa>aGa	p.T362R	PRPF3_ENST00000414970.2_Missense_Mutation_p.T313R|PRPF3_ENST00000543398.1_Missense_Mutation_p.T227R|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	362					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.T362R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GCTCGAAAAACAGGCATCCAT	0.418																																					Ovarian(168;1070 2670 5178 20729)											1	Substitution - Missense(1)	kidney(1)											126	115	119					1																	150310685		2203	4300	6503	SO:0001583	missense	9129			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1085C>G	1.37:g.150310685C>G	ENSP00000315379:p.Thr362Arg		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	CCDS951.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928547	0.92389	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	D;D;D	0.85861	-2.04;-2.04;-2.04	6.07	6.07	0.98685	Pre-mRNA-splicing factor 3 (1);	0.043260	0.85682	D	0.000000	D	0.92309	0.7560	M	0.80508	2.5	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75020	0.985;0.979	D	0.91319	0.5080	10	0.56958	D	0.05	-11.6329	20.6439	0.99570	0.0:1.0:0.0:0.0	.	313;362	E7EVD1;O43395	.;PRPF3_HUMAN	R	362;313;227	ENSP00000315379:T362R;ENSP00000387844:T313R;ENSP00000445421:T227R	ENSP00000315379:T362R	T	+	2	0	PRPF3	148577309	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.521000	0.81832	2.890000	0.99128	0.650000	0.86243	ACA		0.418	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		G	150310685	C	G	150310685	3	3	404	1	0	0	0	0	1	0	0	0	12570	478	17	4	1111	4	PRPF3	1	150310685	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	49345969	150310685	98939936	10	22249											
ATP1A2	477	broad.mit.edu;ucsc.edu	37	1	160093040	160093040	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:160093040G>T	ENST00000361216.3	+	4	304	c.215G>T	c.(214-216)cGa>cTa	p.R72L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R72L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	72					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R72L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTTCTGGCTCGAGATGGGCCC	0.642																																																1	Substitution - Missense(1)	kidney(1)											115	113	113					1																	160093040		2203	4300	6503	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.215G>T	1.37:g.160093040G>T	ENSP00000354490:p.Arg72Leu		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081522	0.36758	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	T;T	0.79653	-1.29;-1.29	5.1	5.1	0.69264	ATPase, P-type cation-transporter, N-terminal (2);	0.164660	0.40554	N	0.001076	T	0.71796	0.3382	M	0.75615	2.305	0.47778	D	0.999517	B	0.06786	0.001	B	0.17433	0.018	T	0.74551	-0.3628	10	0.72032	D	0.01	.	10.9404	0.47270	0.0861:0.0:0.9139:0.0	.	72	P50993	AT1A2_HUMAN	L	72	ENSP00000354490:R72L;ENSP00000376066:R72L	ENSP00000354490:R72L	R	+	2	0	ATP1A2	158359664	0.945000	0.32115	1.000000	0.80357	0.123000	0.20343	2.399000	0.44495	2.644000	0.89710	0.561000	0.74099	CGA		0.642	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		T	160093040	G	T	160093040	3	4	404	1	0	0	0	0	1	0	0	0	1129	1058	37	4	229	4	ATP1A2	1	160093040	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08	9782355	160093040	89157581	11	22250											
ZNF672	79894	broad.mit.edu;hgsc.bcm.edu	37	1	249142695	249142695	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr1:249142695C>A	ENST00000306562.3	+	4	1968	c.1222C>A	c.(1222-1224)Cgc>Agc	p.R408S		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R408S(1)		endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGCCACAGCCGCTCGCTGTC	0.697																																																1	Substitution - Missense(1)	kidney(1)											12	12	12					1																	249142695		2169	4244	6413	SO:0001583	missense	79894			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.1222C>A	1.37:g.249142695C>A	ENSP00000421915:p.Arg408Ser		Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	C	8.027	0.760949	0.15914	.	.	ENSG00000171161	ENST00000306562	T	0.07114	3.22	3.83	0.806	0.18708	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31392	U	0.007731	T	0.04137	0.0115	N	0.24115	0.695	0.22989	N	0.998465	B	0.23377	0.084	B	0.18263	0.021	T	0.39418	-0.9615	9	.	.	.	.	2.9954	0.05996	0.194:0.4817:0.0:0.3243	.	408	Q499Z4	ZN672_HUMAN	S	408	ENSP00000421915:R408S	.	R	+	1	0	ZNF672	247109318	0.000000	0.05858	0.767000	0.31495	0.931000	0.56810	-2.315000	0.01124	0.070000	0.16634	0.561000	0.74099	CGC		0.697	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		A	249142695	C	A	249142695	3	1	404	1	0	0	0	0	1	0	0	0	18084	652	23	4	1224	4	ZNF672	1	249142695	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	89049655	249142695	107926	12	22251											
ADCY3	109	hgsc.bcm.edu	37	2	25061418	25061419	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr2:25061418_25061419insG	ENST00000260600.5	-	7	2279_2280	c.1428_1429insC	c.(1426-1431)ggcagcfs	p.S477fs	ADCY3_ENST00000405392.1_Frame_Shift_Ins_p.S110fs	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	477					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCACAGCGGCTGCCCCCATCGC	0.559																																																0																																										SO:0001589	frameshift_variant	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1429dupC	2.37:g.25061419_25061419dupG	ENSP00000260600:p.Ser477fs		B3KT86|Q53T54|Q9UDB1	Frame_Shift_Ins	INS	ENST00000260600.5	37	CCDS1715.1																																																																																				0.559	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			G	25061419	-	G	25061418	7	5	404	1	0	1	1	0	0	0	0	0	295	1580	55	0	2065	0	ADCY3	2	25061418	Frame_Shift_Ins	INS	-	TCGA-BP-4993-01A-02D-1421-08		25061418	218137955	13	22252											
TET3	200424	hgsc.bcm.edu;ucsc.edu	37	2	74328262	74328263	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr2:74328262_74328263insA	ENST00000409262.3	+	9	3942_3943	c.3942_3943insA	c.(3943-3945)aacfs	p.N1315fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1315					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAAGAGGACTAACGGTGTGGG	0.604																																																0																																										SO:0001589	frameshift_variant	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3944dupA	2.37:g.74328264_74328264dupA	ENSP00000386869:p.Asn1315fs		A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Ins	INS	ENST00000409262.3	37	CCDS46339.1																																																																																				0.604	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			A	74328263	-	A	74328262	7	5	404	1	0	1	1	0	0	0	0	0	15776	1509	53	0	3976	0	TET3	2	74328262	Frame_Shift_Ins	INS	-	TCGA-BP-4993-01A-02D-1421-08	49266844	74328262	168871111	14	22253											
RANBP2	5903	broad.mit.edu;hgsc.bcm.edu	37	2	109365421	109365421	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr2:109365421A>C	ENST00000283195.6	+	9	1235	c.1109A>C	c.(1108-1110)aAa>aCa	p.K370T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	370					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K370T(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATTTTTTAAAAGAGATTGTT	0.343																																																2	Substitution - Missense(2)	kidney(2)											213	224	220					2																	109365421		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1109A>C	2.37:g.109365421A>C	ENSP00000283195:p.Lys370Thr		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	6.732	0.503840	0.12822	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29142	1.58	5.53	3.14	0.36123	.	.	.	.	.	T	0.27489	0.0675	L	0.57536	1.79	0.19775	N	0.999951	P	0.43094	0.799	B	0.35859	0.212	T	0.10520	-1.0626	9	0.66056	D	0.02	-16.8491	9.1092	0.36716	0.7265:0.0:0.2735:0.0	.	370	P49792	RBP2_HUMAN	T	370	ENSP00000283195:K370T	ENSP00000283195:K370T	K	+	2	0	RANBP2	108731853	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	1.742000	0.38248	0.468000	0.27243	-1.011000	0.02470	AAA		0.343	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		C	109365421	A	C	109365421	3	2	404	1	0	0	0	0	1	0	0	0	13034	14	1	5	1143	5	RANBP2	2	109365421	Missense_Mutation	SNP	A	TCGA-BP-4993-01A-02D-1421-08	35037159	109365421	133833952	15	22254											
AGXT	189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	241808356	241808356	+	Missense_Mutation	SNP	T	T	C	rs180177262		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr2:241808356T>C	ENST00000307503.3	+	1	461	c.74T>C	c.(73-75)cTg>cCg	p.L25P		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	25					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)	p.L25P(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	AACCAGCTCCTGCTGGGGCCT	0.647																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM072846	AGXT	M							34	40	38					2																	241808356		2203	4300	6503	SO:0001583	missense	189			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.74T>C	2.37:g.241808356T>C	ENSP00000302620:p.Leu25Pro		Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424865	0.43020	.	.	ENSG00000172482	ENST00000307503	D	0.96913	-4.17	4.42	4.42	0.53409	Pyridoxal phosphate-dependent transferase, major domain (1);	0.198290	0.41938	D	0.000781	D	0.98645	0.9546	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99552	1.0966	10	0.87932	D	0	-17.1239	13.6788	0.62472	0.0:0.0:0.0:1.0	.	25;25	B7Z548;P21549	.;SPYA_HUMAN	P	25	ENSP00000302620:L25P	ENSP00000302620:L25P	L	+	2	0	AGXT	241457029	1.000000	0.71417	0.938000	0.37757	0.015000	0.08874	6.871000	0.75531	1.639000	0.50556	0.397000	0.26171	CTG		0.647	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		C	241808356	T	C	241808356	3	2	404	1	0	0	0	0	1	0	0	0	404	1580	55	3	76	3	AGXT	2	241808356	Missense_Mutation	SNP	T	TCGA-BP-4993-01A-02D-1421-08	132442935	241808356	1391017	16	22255											
ANO10	55129	broad.mit.edu	37	3	43474215	43474215	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr3:43474215G>A	ENST00000292246.3	-	12	1972	c.1802C>T	c.(1801-1803)gCa>gTa	p.A601V	ANO10_ENST00000350459.4_Missense_Mutation_p.A411V|ANO10_ENST00000414522.2_Intron|ANO10_ENST00000451430.2_Missense_Mutation_p.A490V|ANO10_ENST00000396091.3_Missense_Mutation_p.A535V	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	601					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.A601V(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AGCCAGGAGTGCGTGCTGAAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											85	80	82					3																	43474215		2203	4300	6503	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1802C>T	3.37:g.43474215G>A	ENSP00000292246:p.Ala601Val		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	CCDS2710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.108|1.108	-0.659174|-0.659174	0.03454|0.03454	.|.	.|.	ENSG00000160746|ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000451430|ENST00000448045	T;T;T;T|.	0.61040|.	0.14;0.14;0.14;0.14|.	5.49|5.49	3.72|3.72	0.42706|0.42706	.|.	0.405226|.	0.22842|.	N|.	0.054975|.	T|T	0.08980|0.08980	0.0222|0.0222	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.17465|.	0.001;0.022;0.0;0.0|.	B;B;B;B|.	0.15484|.	0.001;0.013;0.002;0.001|.	T|T	0.30268|0.30268	-0.9984|-0.9984	10|5	0.02654|.	T|.	1|.	.|.	8.5526|8.5526	0.33460|0.33460	0.2918:0.0:0.7082:0.0|0.2918:0.0:0.7082:0.0	.|.	490;411;535;601|.	Q9NW15-4;Q9NW15-2;Q9NW15-3;Q9NW15|.	.;.;.;ANO10_HUMAN|.	V|Y	601;411;535;490|129	ENSP00000292246:A601V;ENSP00000327767:A411V;ENSP00000379398:A535V;ENSP00000394119:A490V|.	ENSP00000292246:A601V|.	A|H	-|-	2|1	0|0	ANO10|ANO10	43449219|43449219	0.101000|0.101000	0.21875|0.21875	0.140000|0.140000	0.22221|0.22221	0.898000|0.898000	0.52572|0.52572	2.041000|2.041000	0.41213|0.41213	0.704000|0.704000	0.31869|0.31869	-0.225000|-0.225000	0.12378|0.12378	GCA|CAC		0.368	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		A	43474215	G	A	43474215	3	1	404	1	0	0	0	0	1	0	0	0	696	1319	46	2	188	2	ANO10	3	43474215	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08		43474215	154548215	17	22256											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643348	52643348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr3:52643348G>A	ENST00000296302.7	-	16	2549	c.2548C>T	c.(2548-2550)Cga>Tga	p.R850*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R850*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R850*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R865*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R850*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R850*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R818*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R865*			Q86U86	PB1_HUMAN	polybromo 1	850	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R850*(4)|p.R818*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTCTTGCTCGTTCCAATACT	0.333			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											65	65	65					3																	52643348		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2548C>T	3.37:g.52643348G>A	ENSP00000296302:p.Arg850*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	39	7.754433	0.98471	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.08	3.64	0.41730	.	0.042238	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.3202	14.3827	0.66921	0.0:0.0:0.495:0.5049	.	.	.	.	X	818;850;850;850;850;850;865;865;850;809	.	ENSP00000296302:R850X	R	-	1	2	PBRM1	52618388	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.755000	0.47540	0.509000	0.28195	-0.266000	0.10368	CGA		0.333	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52643348	G	A	52643348	4	1	404	1	0	0	0	0	0	1	0	0	11493	1153	40	1	2412	1	PBRM1	3	52643348	Nonsense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08	9169133	52643348	145379082	18	22257											
ADCY5	111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	123005537	123005537	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr3:123005537T>C	ENST00000462833.1	-	20	4864	c.3652A>G	c.(3652-3654)Atc>Gtc	p.I1218V	ADCY5_ENST00000309879.5_Missense_Mutation_p.I868V|RP11-797D24.4_ENST00000608436.1_RNA|ADCY5_ENST00000491190.1_Missense_Mutation_p.I876V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1218					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.I1218V(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCACCTGGATGCGGTCGGGT	0.632											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											169	126	140					3																	123005537		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3652A>G	3.37:g.123005537T>C	ENSP00000419361:p.Ile1218Val	1523	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854527	0.91355	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.81415	-1.49;-1.49;-1.49	5.15	5.15	0.70609	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.85150	0.5631	L	0.56769	1.78	0.80722	D	1	P;P	0.51933	0.949;0.47	P;P	0.56434	0.798;0.642	D	0.86144	0.1583	10	0.54805	T	0.06	.	15.1539	0.72723	0.0:0.0:0.0:1.0	.	1218;876	O95622;B3KWA8	ADCY5_HUMAN;.	V	1218;876;868	ENSP00000419361:I1218V;ENSP00000418537:I876V;ENSP00000308685:I868V	ENSP00000308685:I868V	I	-	1	0	ADCY5	124488227	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.868000	0.87116	2.163000	0.67991	0.460000	0.39030	ATC		0.632	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		C	123005537	T	C	123005537	3	2	404	1	0	0	0	0	1	0	0	0	297	1464	51	3	141	3	ADCY5	3	123005537	Missense_Mutation	SNP	T	TCGA-BP-4993-01A-02D-1421-08	70362189	123005537	75016893	19	22258											
C4orf14	84273	hgsc.bcm.edu	37	4	57842813	57842813	+	Silent	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr4:57842813C>T	ENST00000264230.4	-	1	2176	c.939G>A	c.(937-939)gtG>gtA	p.V313V	POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	313	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										TGATCAGCCGCACGTCCCTGA	0.652																																																0													60	55	57					4																	57842813		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.939G>A	4.37:g.57842813C>T			Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	CCDS3510.1																																																																																				0.652	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		T	57842813	C	T	57842813	2	4	404	1	0	0	0	0	0	0	0	1	2253	697	25	2		2	C4orf14	4	57842813	Silent	SNP	C	TCGA-BP-4993-01A-02D-1421-08		57842813	133311463	20	22259											
PDHA2	5161	hgsc.bcm.edu	37	4	96761930	96761949	+	Frame_Shift_Del	DEL	CTTTATGGAAATTACCTTGT	CTTTATGGAAATTACCTTGT	-	rs74554473		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	CTTTATGGAAATTACCTTGT	CTTTATGGAAATTACCTTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr4:96761930_96761949delCTTTATGGAAATTACCTTGT	ENST00000295266.4	+	1	692_711	c.629_648delCTTTATGGAAATTACCTTGT	c.(628-648)gctttatggaaattaccttgtfs	p.ALWKLPC210fs		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	210					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AATATGGCAGCTTTATGGAAATTACCTTGTGTTTTCATCT	0.445																																																0																																										SO:0001589	frameshift_variant	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.629_648delCTTTATGGAAATTACCTTGT	4.37:g.96761930_96761949delCTTTATGGAAATTACCTTGT	ENSP00000295266:p.Ala210fs		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Frame_Shift_Del	DEL	ENST00000295266.4	37	CCDS3644.1																																																																																				0.445	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			-	96761949	CTTTATGGAAATTACCTTGT	-	96761930	7	5	404	1	0	1	0	1	0	0	0	0	11667	797	28	0	631	0	PDHA2	4	96761930	Frame_Shift_Del	DEL	CTTTATGGAAATTACCTTGT	TCGA-BP-4993-01A-02D-1421-08	38919117	96761930	94392346	21	22260											
PCDH10	57575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	134071517	134071517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr4:134071517C>A	ENST00000264360.5	+	1	1048	c.222C>A	c.(220-222)taC>taA	p.Y74*	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	74	Cadherin 1. {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)	p.Y74*(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGTGCTGTACGTGAACGAGA	0.547																																																1	Substitution - Nonsense(1)	kidney(1)											81	87	85					4																	134071517		2203	4300	6503	SO:0001587	stop_gained	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.222C>A	4.37:g.134071517C>A	ENSP00000264360:p.Tyr74*		Q4W5F6|Q96SF0	Nonsense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	43	10.048889	0.99325	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	4.66	1.81	0.25067	.	0.000000	0.41001	D	0.000974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	9.8178	0.40862	0.0:0.7763:0.0:0.2237	.	.	.	.	X	74	.	ENSP00000264360:Y74X	Y	+	3	2	PCDH10	134290967	0.946000	0.32159	1.000000	0.80357	0.978000	0.69477	0.109000	0.15417	0.517000	0.28361	0.555000	0.69702	TAC		0.547	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		A	134071517	C	A	134071517	4	1	404	1	0	0	0	0	0	1	0	0	11509	547	19	4	224	4	PCDH10	4	134071517	Nonsense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	37309587	134071517	57082759	22	22261											
MAML3	55534	hgsc.bcm.edu;ucsc.edu	37	4	140641167	140641167	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr4:140641167delA	ENST00000509479.2	-	5	3583	c.2727delT	c.(2725-2727)gttfs	p.V909fs	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCACCATTCCAACCCCCTGCC	0.562																																																0													180	183	182					4																	140641167		1999	4182	6181	SO:0001589	frameshift_variant	55534			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2727delT	4.37:g.140641167delA	ENSP00000421180:p.Val909fs			Frame_Shift_Del	DEL	ENST00000509479.2	37	CCDS54805.1																																																																																				0.562	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			-	140641167	A	-	140641167	7	5	404	1	0	1	0	1	0	0	0	0	9209	117	5	0	693	0	MAML3	4	140641167	Frame_Shift_Del	DEL	A	TCGA-BP-4993-01A-02D-1421-08	6569650	140641167	50513109	23	22262											
CLCN3	1182	hgsc.bcm.edu;ucsc.edu	37	4	170618812	170618815	+	Frame_Shift_Del	DEL	ATTC	ATTC	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	ATTC	ATTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr4:170618812_170618815delATTC	ENST00000513761.1	+	9	2049_2052	c.1490_1493delATTC	c.(1489-1494)tattcafs	p.YS497fs	CLCN3_ENST00000347613.4_Frame_Shift_Del_p.YS497fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.YS470fs|CLCN3_ENST00000504131.2_Frame_Shift_Del_p.YS480fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	497					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATTGGAGTATATTCAGCTATATGG	0.407																																																0																																										SO:0001589	frameshift_variant	1182			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1490_1493delATTC	4.37:g.170618812_170618815delATTC	ENSP00000424603:p.Tyr497fs		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Frame_Shift_Del	DEL	ENST00000513761.1	37	CCDS34101.1																																																																																				0.407	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			-	170618815	ATTC	-	170618812	7	5	404	1	0	1	0	1	0	0	0	0	3466	449	16	0	1520	0	CLCN3	4	170618812	Frame_Shift_Del	DEL	ATTC	TCGA-BP-4993-01A-02D-1421-08	29977645	170618812	20535464	24	22263											
MCCC2	64087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	70930789	70930789	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr5:70930789C>G	ENST00000340941.6	+	9	952	c.823C>G	c.(823-825)Cac>Gac	p.H275D	MCCC2_ENST00000323375.8_Missense_Mutation_p.H237D|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Missense_Mutation_p.H275D	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	275	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.H275D(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGTAAGTGACCACTGGGCTTT	0.373																																																1	Substitution - Missense(1)	kidney(1)											110	106	108					5																	70930789		2203	4300	6503	SO:0001583	missense	64087			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.823C>G	5.37:g.70930789C>G	ENSP00000343657:p.His275Asp		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292313	0.40594	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375;ENST00000509539	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.65	1.7	0.24286	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.144593	0.64402	D	0.000007	D	0.98789	0.9592	H	0.97390	3.995	0.58432	D	0.999999	D;D;D	0.67145	0.995;0.996;0.973	D;D;D	0.83275	0.967;0.996;0.991	D	0.98061	1.0393	10	0.87932	D	0	-7.3144	9.9718	0.41759	0.0:0.7185:0.0:0.2815	.	275;144;275	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	D	275;275;237;50	ENSP00000343657:H275D;ENSP00000420994:H275D;ENSP00000327308:H237D;ENSP00000425474:H50D	ENSP00000327308:H237D	H	+	1	0	MCCC2	70966545	1.000000	0.71417	0.997000	0.53966	0.182000	0.23217	1.966000	0.40481	0.014000	0.14944	-0.214000	0.12660	CAC		0.373	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			G	70930789	C	G	70930789	3	3	404	1	0	0	0	0	1	0	0	0	9377	594	21	4	857	4	MCCC2	5	70930789	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08		70930789	109984471	25	22264											
SFXN1	94081	hgsc.bcm.edu;ucsc.edu	37	5	174940584	174940584	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr5:174940584C>T	ENST00000321442.5	+	7	969	c.715C>T	c.(715-717)Cct>Tct	p.P239S		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	239					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CATGGCAGCCCCTGGCATGGG	0.512																																																0													87	80	83					5																	174940584		2203	4300	6503	SO:0001583	missense	94081			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"Sideroflexins"	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.715C>T	5.37:g.174940584C>T	ENSP00000316905:p.Pro239Ser		B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	37	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003003	0.93287	.	.	ENSG00000164466	ENST00000321442	T	0.63096	-0.02	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91202	0.4992	10	0.87932	D	0	-18.9499	17.5333	0.87820	0.0:1.0:0.0:0.0	.	239	Q9H9B4	SFXN1_HUMAN	S	239	ENSP00000316905:P239S	ENSP00000316905:P239S	P	+	1	0	SFXN1	174873190	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.572000	0.82409	2.434000	0.82447	0.462000	0.41574	CCT		0.512	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		T	174940584	C	T	174940584	3	4	404	1	0	0	0	0	1	0	0	0	14200	623	22	2	737	2	SFXN1	5	174940584	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	104009795	174940584	5974676	26	22265											
SYNCRIP	10492	broad.mit.edu;hgsc.bcm.edu	37	6	86324828	86324828	+	Silent	SNP	A	A	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr6:86324828A>G	ENST00000369622.3	-	11	2018	c.1518T>C	c.(1516-1518)gcT>gcC	p.A506A	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.L42P|SYNCRIP_ENST00000355238.6_Silent_p.A506A	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	506	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A506A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TGGATGGAGCAGCACCCCTTG	0.532																																																1	Substitution - coding silent(1)	kidney(1)											70	67	68					6																	86324828		2203	4300	6503	SO:0001819	synonymous_variant	10492			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1518T>C	6.37:g.86324828A>G			E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	CCDS5005.1																																																																																				0.532	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		G	86324828	A	G	86324828	2	3	404	1	0	0	0	0	0	0	0	1	15449	175	7	3		3	SYNCRIP	6	86324828	Silent	SNP	A	TCGA-BP-4993-01A-02D-1421-08		86324828	84790239	27	22266											
OPRM1	4988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	154412549	154412549	+	Missense_Mutation	SNP	G	G	A	rs199984546		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr6:154412549G>A	ENST00000330432.7	+	3	1343	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	OPRM1_ENST00000518759.1_Missense_Mutation_p.R288H|OPRM1_ENST00000524163.1_Missense_Mutation_p.R369H|OPRM1_ENST00000419506.2_Missense_Mutation_p.R369H|OPRM1_ENST00000522555.1_Missense_Mutation_p.R269H|OPRM1_ENST00000434900.2_Missense_Mutation_p.R462H|OPRM1_ENST00000360422.4_Missense_Mutation_p.R369H|OPRM1_ENST00000520708.1_Missense_Mutation_p.R269H|OPRM1_ENST00000522236.1_Missense_Mutation_p.R269H|OPRM1_ENST00000414028.2_Missense_Mutation_p.R369H|OPRM1_ENST00000428397.2_Missense_Mutation_p.R369H|OPRM1_ENST00000229768.5_Missense_Mutation_p.R369H|OPRM1_ENST00000337049.4_Missense_Mutation_p.R369H|OPRM1_ENST00000435918.2_Missense_Mutation_p.R369H|OPRM1_ENST00000452687.2_Missense_Mutation_p.R369H	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	369					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.R369H(2)|p.R462H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ACTCGAATTCGTCAGAACACT	0.438																																																3	Substitution - Missense(3)	kidney(3)											54	53	54					6																	154412549		1915	4123	6038	SO:0001583	missense	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1106G>A	6.37:g.154412549G>A	ENSP00000328264:p.Arg369His		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237880	0.79800	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	6.16	6.16	0.99307	.	0.048138	0.85682	D	0.000000	T	0.57140	0.2033	M	0.76170	2.325	0.80722	D	1	D;B;B;D;P;B;B;P;B;P;P;B	0.76494	0.998;0.187;0.187;0.999;0.713;0.025;0.014;0.738;0.364;0.815;0.738;0.187	D;B;B;D;B;B;B;B;B;B;B;B	0.66716	0.909;0.118;0.118;0.946;0.211;0.013;0.009;0.19;0.055;0.22;0.19;0.118	T	0.57429	-0.7813	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	369;369;369;369;462;288;269;369;369;369;369;369	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	H	462;269;288;369;369;369;369;369;369;369;369;369;369;269;269	ENSP00000394624:R462H;ENSP00000430876:R269H;ENSP00000430260:R288H;ENSP00000328264:R369H;ENSP00000353598:R369H;ENSP00000411903:R369H;ENSP00000410497:R369H;ENSP00000229768:R369H;ENSP00000403549:R369H;ENSP00000430097:R369H;ENSP00000399359:R369H;ENSP00000413752:R369H;ENSP00000338381:R369H;ENSP00000429719:R269H;ENSP00000429373:R269H	ENSP00000229768:R369H	R	+	2	0	OPRM1	154454242	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CGT		0.438	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		A	154412549	G	A	154412549	3	1	404	1	0	0	0	0	1	0	0	0	10889	1145	40	1	1450	1	OPRM1	6	154412549	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08	68087721	154412549	16702518	28	22267											
SAMD9	54809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92731889	92731889	+	Silent	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr7:92731889C>T	ENST00000379958.2	-	3	3791	c.3522G>A	c.(3520-3522)gaG>gaA	p.E1174E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1174						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.E1174E(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCACTTCATACTCTCTATCTT	0.378																																																1	Substitution - coding silent(1)	kidney(1)											222	223	222					7																	92731889		2203	4300	6503	SO:0001819	synonymous_variant	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3522G>A	7.37:g.92731889C>T			A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	CCDS34680.1																																																																																				0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		T	92731889	C	T	92731889	2	4	404	1	0	0	0	0	0	0	0	1	13832	564	20	2		2	SAMD9	7	92731889	Silent	SNP	C	TCGA-BP-4993-01A-02D-1421-08		92731889	66406774	29	22268											
CNGB3	54714	broad.mit.edu	37	8	87588236	87588236	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr8:87588236T>A	ENST00000320005.5	-	18	2273	c.2226A>T	c.(2224-2226)aaA>aaT	p.K742N		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	742					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.K742N(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCTCTCTTCCTTTATCTTTAt	0.363																																																1	Substitution - Missense(1)	kidney(1)											226	228	227					8																	87588236		2203	4300	6503	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2226A>T	8.37:g.87588236T>A	ENSP00000316605:p.Lys742Asn		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.206231	0.39003	.	.	ENSG00000170289	ENST00000320005	T	0.61510	0.1	3.67	3.67	0.42095	.	0.088090	0.46442	D	0.000287	T	0.52709	0.1751	L	0.29908	0.895	0.31318	N	0.686389	P;P	0.50528	0.936;0.808	P;B	0.53401	0.725;0.382	T	0.54906	-0.8223	10	0.26408	T	0.33	.	10.105	0.42528	0.0:0.0:0.0:1.0	.	737;742	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	N	742	ENSP00000316605:K742N	ENSP00000316605:K742N	K	-	3	2	CNGB3	87657352	0.426000	0.25506	0.986000	0.45419	0.290000	0.27261	1.371000	0.34250	1.437000	0.47472	0.260000	0.18958	AAA		0.363	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		A	87588236	T	A	87588236	3	1	404	1	0	0	0	0	1	0	0	0	3603	1606	56	5	207	5	CNGB3	8	87588236	Missense_Mutation	SNP	T	TCGA-BP-4993-01A-02D-1421-08		87588236	58775786	30	22269											
LYPD2	137797	broad.mit.edu;hgsc.bcm.edu	37	8	143832568	143832568	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr8:143832568C>G	ENST00000359228.3	-	2	161	c.79G>C	c.(79-81)Gtc>Ctc	p.V27L		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	27	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.V27L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCGGACAGACGTAGCAGCGC	0.642																																																1	Substitution - Missense(1)	kidney(1)											170	135	147					8																	143832568		2203	4300	6503	SO:0001583	missense	137797			AY358432	CCDS6388.1	8q24.3	2005-08-30		2005-08-30	ENSG00000197353	ENSG00000197353			25215	protein-coding gene	gene with protein product				LYPDC2		12975309	Standard	NM_205545		Approved	RGTR430, UNQ430	uc003ywz.3	Q6UXB3	OTTHUMG00000164686	ENST00000359228.3:c.79G>C	8.37:g.143832568C>G	ENSP00000352163:p.Val27Leu		A8K2R6|Q0VD64|Q0VF31	Missense_Mutation	SNP	ENST00000359228.3	37	CCDS6388.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419225	0.42918	.	.	ENSG00000197353	ENST00000359228	T	0.69806	-0.43	5.0	-5.46	0.02608	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.705702	0.13399	N	0.390781	T	0.48114	0.1482	L	0.39245	1.2	0.09310	N	1	B	0.19817	0.039	B	0.23716	0.048	T	0.42783	-0.9431	10	0.72032	D	0.01	.	3.8716	0.09039	0.287:0.3628:0.0:0.3502	.	27	Q6UXB3	LYPD2_HUMAN	L	27	ENSP00000352163:V27L	ENSP00000352163:V27L	V	-	1	0	LYPD2	143829570	0.000000	0.05858	0.070000	0.20053	0.036000	0.12997	-1.463000	0.02361	-0.704000	0.05042	-0.459000	0.05422	GTC		0.642	LYPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379742.1	NM_205545		G	143832568	C	G	143832568	3	3	404	1	0	0	0	0	1	0	0	0	9112	536	19	4	306	4	LYPD2	8	143832568	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	56244332	143832568	2531454	31	22270											
C8orf73	642475	broad.mit.edu	37	8	144654816	144654816	+	Silent	SNP	T	T	C	rs200279480		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr8:144654816T>C	ENST00000398882.3	-	1	325	c.69A>G	c.(67-69)gcA>gcG	p.A23A	NAPRT1_ENST00000460623.1_5'Flank|MROH6_ENST00000533679.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	23								p.A23A(2)									CTTCAGTCAGTGCTGTCAGGG	0.711																																																2	Substitution - coding silent(2)	kidney(2)											8	11	10					8																	144654816		1861	4087	5948	SO:0001819	synonymous_variant	0			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.69A>G	8.37:g.144654816T>C			A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																				0.711	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		C	144654816	T	C	144654816	2	2	404	1	0	0	0	0	0	0	0	1	2437	1683	59	3		3	C8orf73	8	144654816	Silent	SNP	T	TCGA-BP-4993-01A-02D-1421-08	822248	144654816	1709206	32	22271											
AGTPBP1	23287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	88207597	88207597	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr9:88207597C>T	ENST00000357081.3	-	19	2590	c.2446G>A	c.(2446-2448)Gtt>Att	p.V816I	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V828I|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V776I			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	816					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.V776I(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCTGCAGCAACTGAACTTCTT	0.318																																																1	Substitution - Missense(1)	kidney(1)											155	163	160					9																	88207597		2203	4298	6501	SO:0001583	missense	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2446G>A	9.37:g.88207597C>T	ENSP00000349592:p.Val816Ile		B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	C	6.416	0.444919	0.12164	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.17528	2.29;2.28;2.27	5.87	3.93	0.45458	.	0.225496	0.43110	N	0.000604	T	0.04092	0.0114	N	0.00538	-1.39	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.26950	-1.0088	10	0.27785	T	0.31	-10.4597	5.7096	0.17927	0.0:0.6142:0.0:0.3858	.	828;816;776	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	I	816;776;828	ENSP00000349592:V816I;ENSP00000365251:V776I;ENSP00000365277:V828I	ENSP00000349592:V816I	V	-	1	0	AGTPBP1	87397417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.630000	0.46494	1.376000	0.46267	0.591000	0.81541	GTT		0.318	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		T	88207597	C	T	88207597	3	4	404	1	0	0	0	0	1	0	0	0	400	565	20	2	1266	2	AGTPBP1	9	88207597	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08		88207597	53005834	33	22272											
SYK	6850	broad.mit.edu;ucsc.edu	37	9	93624627	93624627	+	Splice_Site	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr9:93624627G>A	ENST00000375754.4	+	4	865		c.e4+1		SYK_ENST00000375747.1_Splice_Site|SYK_ENST00000375751.4_Splice_Site|SYK_ENST00000375746.1_Splice_Site	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase						activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.?(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCTCTGGCAGGTACCCAGCCT	0.582			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	2	Unknown(2)	kidney(2)											81	71	74					9																	93624627		2203	4300	6503	SO:0001630	splice_region_variant	6850			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.717+1G>A	9.37:g.93624627G>A				Splice_Site	SNP	ENST00000375754.4	37	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017381	0.75161	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9994	0.86378	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYK	92664448	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	8.643000	0.91040	2.555000	0.86185	0.643000	0.83706	.		0.582	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1		Intron	A	93624627	G	A	93624627	5	1	404	1	0	0	0	0	0	0	1	0	15443	1275	44	2	728	2	SYK	9	93624627	Splice_Site	SNP	G	TCGA-BP-4993-01A-02D-1421-08	5417030	93624627	47588804	34	22273											
SMC2	10592	broad.mit.edu;hgsc.bcm.edu	37	9	106877025	106877025	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr9:106877025T>C	ENST00000286398.7	+	13	1874	c.1586T>C	c.(1585-1587)cTg>cCg	p.L529P	SMC2_ENST00000374793.3_Missense_Mutation_p.L529P|SMC2_ENST00000303219.8_Missense_Mutation_p.L529P|SMC2_ENST00000374787.3_Missense_Mutation_p.L529P	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	529	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.L529P(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GTGGCTTCTCTGATTAGTGTG	0.353																																																2	Substitution - Missense(2)	kidney(2)											97	97	97					9																	106877025		2203	4300	6503	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1586T>C	9.37:g.106877025T>C	ENSP00000286398:p.Leu529Pro		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409195	0.83340	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.45	5.45	0.79879	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.069788	0.64402	D	0.000020	D	0.97037	0.9032	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98266	1.0501	10	0.87932	D	0	-7.1109	14.4917	0.67654	0.0:0.0:0.0:1.0	.	529;529	O95347;Q2KQ72	SMC2_HUMAN;.	P	529	ENSP00000286398:L529P;ENSP00000363925:L529P;ENSP00000306152:L529P;ENSP00000363919:L529P	ENSP00000286398:L529P	L	+	2	0	SMC2	105916846	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.771000	0.68881	2.288000	0.76882	0.533000	0.62120	CTG		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			C	106877025	T	C	106877025	3	2	404	1	0	0	0	0	1	0	0	0	14789	1580	55	3	1632	3	SMC2	9	106877025	Missense_Mutation	SNP	T	TCGA-BP-4993-01A-02D-1421-08	13252398	106877025	34336406	35	22274											
FKTN	2218	hgsc.bcm.edu;ucsc.edu	37	9	108377609	108377609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr9:108377609delA	ENST00000223528.2	+	7	955	c.831delA	c.(829-831)gcafs	p.A277fs	FKTN_ENST00000357998.5_Frame_Shift_Del_p.A277fs|FKTN_ENST00000602661.1_Frame_Shift_Del_p.A277fs|FKTN_ENST00000540160.1_Intron|FKTN_ENST00000448551.2_Frame_Shift_Del_p.A277fs	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	277					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GGAAGAGTGCAAAGGAATTAC	0.398																																																0													131	122	125					9																	108377609		2203	4300	6503	SO:0001589	frameshift_variant	2218				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.831delA	9.37:g.108377609delA	ENSP00000223528:p.Ala277fs		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Frame_Shift_Del	DEL	ENST00000223528.2	37	CCDS6766.1																																																																																				0.398	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		-	108377609	A	-	108377609	7	5	404	1	0	1	0	1	0	0	0	0	5921	117	5	0	853	0	FKTN	9	108377609	Frame_Shift_Del	DEL	A	TCGA-BP-4993-01A-02D-1421-08	1500584	108377609	32835822	36	22275											
CAMK1D	57118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12595350	12595350	+	Silent	SNP	G	G	T	rs56079552		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr10:12595350G>T	ENST00000378847.3	+	2	556	c.219G>T	c.(217-219)ctG>ctT	p.L73L	CAMK1D_ENST00000378845.1_Silent_p.L73L|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L73L(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TAGCCGTCCTGAGAAAGTAAG	0.577																																																2	Substitution - coding silent(2)	kidney(2)											105	95	98					10																	12595350		2203	4300	6503	SO:0001819	synonymous_variant	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.219G>T	10.37:g.12595350G>T			B0YIY0|Q9HD31	Silent	SNP	ENST00000378847.3	37	CCDS7091.1																																																																																				0.577	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		T	12595350	G	T	12595350	2	4	404	1	0	0	0	0	0	0	0	1	2599	1277	45	4		4	CAMK1D	10	12595350	Silent	SNP	G	TCGA-BP-4993-01A-02D-1421-08		12595350	122939397	37	22276											
NOX4	50507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	89075257	89075257	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr11:89075257A>C	ENST00000263317.4	-	14	1560	c.1322T>G	c.(1321-1323)aTa>aGa	p.I441R	NOX4_ENST00000413594.2_Missense_Mutation_p.I462R|NOX4_ENST00000542487.1_Missense_Mutation_p.I417R|NOX4_ENST00000343727.5_Missense_Mutation_p.I417R|NOX4_ENST00000527956.1_Missense_Mutation_p.I417R|NOX4_ENST00000528341.1_Missense_Mutation_p.I416R|NOX4_ENST00000527626.1_Missense_Mutation_p.I275R|NOX4_ENST00000424319.1_Missense_Mutation_p.I417R|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000535633.1_Missense_Mutation_p.I417R|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000375979.3_Missense_Mutation_p.I134R|NOX4_ENST00000532825.1_Intron|NOX4_ENST00000534731.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	441	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.I441R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGTGTTGAGTATTGATGCAAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											90	82	85					11																	89075257		2201	4299	6500	SO:0001583	missense	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1322T>G	11.37:g.89075257A>C	ENSP00000263317:p.Ile441Arg		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305008	0.81247	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000263317;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000375979	D;D;D;D;D;D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69	5.18	5.18	0.71444	Ferric reductase, NAD binding (1);	0.109105	0.64402	D	0.000010	D	0.97676	0.9238	M	0.86740	2.835	0.58432	D	0.999999	D;D;D;D	0.62365	0.978;0.988;0.991;0.981	P;P;P;D	0.66979	0.83;0.878;0.807;0.948	D	0.98185	1.0459	9	.	.	.	-16.0825	14.6857	0.69047	1.0:0.0:0.0:0.0	.	275;416;134;441	E9PR43;E9PPP2;Q9NPH5-4;Q9NPH5	.;.;.;NOX4_HUMAN	R	417;417;417;441;417;417;275;416;462;134	ENSP00000412446:I417R;ENSP00000440172:I417R;ENSP00000344747:I417R;ENSP00000263317:I441R;ENSP00000433797:I417R;ENSP00000439373:I417R;ENSP00000436093:I275R;ENSP00000436970:I416R;ENSP00000405705:I462R;ENSP00000365146:I134R	.	I	-	2	0	NOX4	88714905	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.578000	0.90777	1.945000	0.56424	0.379000	0.24179	ATA		0.368	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		C	89075257	A	C	89075257	3	2	404	1	0	0	0	0	1	0	0	0	10560	449	16	5	434	5	NOX4	11	89075257	Missense_Mutation	SNP	A	TCGA-BP-4993-01A-02D-1421-08		89075257	45931259	38	22277											
HEPHL1	341208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	93797666	93797666	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr11:93797666C>A	ENST00000315765.9	+	4	806	c.798C>A	c.(796-798)aaC>aaA	p.N266K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	266	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.N267K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGAGGAGTAACAAAATGCATG	0.383																																																1	Substitution - Missense(1)	kidney(1)											107	94	99					11																	93797666		1866	4090	5956	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.798C>A	11.37:g.93797666C>A	ENSP00000313699:p.Asn266Lys		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387033	0.61956	.	.	ENSG00000181333	ENST00000315765	D	0.99388	-5.81	4.98	2.1	0.27182	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99266	0.9744	M	0.87758	2.905	0.42825	D	0.994007	D	0.89917	1.0	D	0.91635	0.999	D	0.99260	1.0890	10	0.49607	T	0.09	.	8.9189	0.35599	0.0:0.6993:0.0:0.3007	.	266	Q6MZM0	HPHL1_HUMAN	K	266	ENSP00000313699:N266K	ENSP00000313699:N266K	N	+	3	2	HEPHL1	93437314	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.116000	0.31221	0.165000	0.19558	0.655000	0.94253	AAC		0.383	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		A	93797666	C	A	93797666	3	1	404	1	0	0	0	0	1	0	0	0	7057	477	17	4	812	4	HEPHL1	11	93797666	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	4722409	93797666	41208850	39	22278											
CD4	920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6923323	6923323	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:6923323A>T	ENST00000011653.4	+	4	488	c.230A>T	c.(229-231)aAt>aTt	p.N77I	CD4_ENST00000541982.1_Missense_Mutation_p.N22I|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	77	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)	p.N77I(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TCCAAGCTGAATGATCGCGCT	0.512																																																1	Substitution - Missense(1)	kidney(1)											125	124	124					12																	6923323		2203	4300	6503	SO:0001583	missense	920			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	protein-coding gene	gene with protein product		186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.230A>T	12.37:g.6923323A>T	ENSP00000011653:p.Asn77Ile		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	a	7.779	0.709078	0.15239	.	.	ENSG00000010610	ENST00000011653;ENST00000541982	T;T	0.65364	-0.15;0.94	5.21	-10.4	0.00318	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	4.516590	0.00397	N	0.000048	T	0.29491	0.0735	N	0.02916	-0.46	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.001	T	0.29518	-1.0009	10	0.39692	T	0.17	-22.0952	3.6812	0.08310	0.3784:0.1766:0.3571:0.0879	.	22;77	F5H480;P01730	.;CD4_HUMAN	I	77;22	ENSP00000011653:N77I;ENSP00000445167:N22I	ENSP00000011653:N77I	N	+	2	0	CD4	6793584	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.325000	0.01115	-2.601000	0.00451	-2.864000	0.00100	AAT		0.512	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		T	6923323	A	T	6923323	3	4	404	1	0	0	0	0	1	0	0	0	3016	101	4	5	240	5	CD4	12	6923323	Missense_Mutation	SNP	A	TCGA-BP-4993-01A-02D-1421-08		6923323	126928572	40	22279											
KLRC2	3822	hgsc.bcm.edu	37	12	10586422	10586422	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:10586422delT	ENST00000381902.2	-	4	457	c.451delA	c.(451-453)agtfs	p.S151fs	KLRC2_ENST00000536833.2_Frame_Shift_Del_p.S92fs|KLRC2_ENST00000381901.1_Frame_Shift_Del_p.S151fs|NKG2-E_ENST00000539033.1_Intron	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	151	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GAAAGCAGACTGGAGTTCTTC	0.348																																																0													90	102	98					12																	10586422		2065	4146	6211	SO:0001589	frameshift_variant	3822			X54869	CCDS31745.1	12p13	2009-12-03				ENSG00000205809		"Killer cell lectin-like receptors", "CD molecules"	6375	protein-coding gene	gene with protein product		602891				9598306	Standard	NM_002260		Approved	NKG2-C, CD159c		P26717		ENST00000381902.2:c.451delA	12.37:g.10586422delT	ENSP00000371327:p.Ser151fs		O43802|Q52M74|Q9NR42	Frame_Shift_Del	DEL	ENST00000381902.2	37	CCDS31745.1																																																																																				0.348	KLRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400111.1	NM_002260		-	10586422	T	-	10586422	7	5	404	1	0	1	0	1	0	0	0	0	8418	1580	55	0	256	0	KLRC2	12	10586422	Frame_Shift_Del	DEL	T	TCGA-BP-4993-01A-02D-1421-08	3663099	10586422	123265473	41	22280											
GPR19	2842	broad.mit.edu;ucsc.edu	37	12	12815272	12815272	+	Silent	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:12815272G>A	ENST00000540510.1	-	2	303	c.111C>T	c.(109-111)agC>agT	p.S37S	GPR19_ENST00000332427.2_Silent_p.S37S			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S37S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TCAGGTATTGGCTTGGCAGAG	0.502																																																1	Substitution - coding silent(1)	kidney(1)											137	124	128					12																	12815272		2203	4300	6503	SO:0001819	synonymous_variant	2842				CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.111C>T	12.37:g.12815272G>A			A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000540510.1	37	CCDS8652.1																																																																																				0.502	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		A	12815272	G	A	12815272	2	1	404	1	0	0	0	0	0	0	0	1	6681	1194	42	2		2	GPR19	12	12815272	Silent	SNP	G	TCGA-BP-4993-01A-02D-1421-08	2228850	12815272	121036623	42	22281											
CS	1431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56668847	56668847	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:56668847T>A	ENST00000351328.3	-	8	1047	c.857A>T	c.(856-858)tAc>tTc	p.Y286F	CS_ENST00000548567.1_Missense_Mutation_p.Y220F|CS_ENST00000542324.2_Missense_Mutation_p.Y273F	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	286					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)	p.Y286F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		AAAGGACAGGTAAGGGTCGGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											94	97	96					12																	56668847		2203	4300	6503	SO:0001583	missense	1431				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.857A>T	12.37:g.56668847T>A	ENSP00000342056:p.Tyr286Phe		Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123425	0.77436	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324	.	.	.	5.55	5.55	0.83447	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.72120	0.3421	L	0.60067	1.865	0.80722	D	1	B;B;B	0.34264	0.446;0.22;0.446	P;B;P	0.51777	0.453;0.32;0.679	T	0.68236	-0.5462	9	0.27785	T	0.31	-10.1698	14.9892	0.71374	0.0:0.0:0.0:1.0	.	273;241;286	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	F	220;286;273	.	ENSP00000342056:Y286F	Y	-	2	0	CS	54955114	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.088000	0.71371	2.253000	0.74438	0.454000	0.30748	TAC		0.522	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		A	56668847	T	A	56668847	3	1	404	1	0	0	0	0	1	0	0	0	3926	1638	57	5	559	5	CS	12	56668847	Missense_Mutation	SNP	T	TCGA-BP-4993-01A-02D-1421-08	43853575	56668847	77183048	43	22282											
C12orf51	283450	broad.mit.edu;hgsc.bcm.edu	37	12	112673071	112673071	+	Splice_Site	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:112673071C>A	ENST00000430131.2	-	36	5605		c.e36-1		HECTD4_ENST00000550722.1_Splice_Site|HECTD4_ENST00000377560.5_Splice_Site			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)									GTCTGACATCCTTTAAGCAAA	0.403																																																2	Unknown(2)	kidney(2)											58	57	57					12																	112673071		1887	4136	6023	SO:0001630	splice_region_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4460-1G>T	12.37:g.112673071C>A			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Splice_Site	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	28.7	4.945292	0.92593	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf51	111157454	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.400000	0.79949	2.854000	0.98071	0.655000	0.94253	.		0.403	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	Intron	A	112673071	C	A	112673071	5	1	404	1	0	0	0	0	0	0	1	0	1698	695	24	4	7691	4	C12orf51	12	112673071	Splice_Site	SNP	C	TCGA-BP-4993-01A-02D-1421-08	56004224	112673071	21178824	44	22283											
CIT	11113	broad.mit.edu	37	12	120151395	120151395	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr12:120151395C>A	ENST00000261833.7	-	33	4291	c.4239G>T	c.(4237-4239)ttG>ttT	p.L1413F	CIT_ENST00000537607.1_5'UTR|MIR1178_ENST00000408396.1_RNA|CIT_ENST00000392521.2_Missense_Mutation_p.L1455F	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1413					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L1413F(1)|p.L1441F(1)|p.L1455F(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATTCAGCAGGCAAGCCGCAGG	0.577																																																3	Substitution - Missense(3)	kidney(3)											88	75	79					12																	120151395		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4239G>T	12.37:g.120151395C>A	ENSP00000261833:p.Leu1413Phe		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.82|18.82	3.704577|3.704577	0.68615|0.68615	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|D;D	.|0.84873	.|-1.91;-1.91	6.07|6.07	5.17|5.17	0.71159|0.71159	.|.	.|0.079054	.|0.52532	.|D	.|0.000073	D|D	0.89040|0.89040	0.6602|0.6602	M|M	0.72894|0.72894	2.215|2.215	0.53005|0.53005	D|D	0.999967|0.999967	.|D;D;D	.|0.56746	.|0.961;0.961;0.977	.|P;P;P	.|0.56648	.|0.541;0.541;0.803	D|D	0.89813|0.89813	0.3983|0.3983	5|10	.|0.87932	.|D	.|0	.|.	11.2011|11.2011	0.48741|0.48741	0.0:0.8061:0.1269:0.067|0.0:0.8061:0.1269:0.067	.|.	.|1455;1413;931	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	F|F	1026|1455;1413	.|ENSP00000376306:L1455F;ENSP00000261833:L1413F	.|ENSP00000261833:L1413F	C|L	-|-	2|3	0|2	CIT|CIT	118635778|118635778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	1.939000|1.939000	0.40213|0.40213	1.549000|1.549000	0.49425|0.49425	0.655000|0.655000	0.94253|0.94253	TGC|TTG		0.577	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		A	120151395	C	A	120151395	3	1	404	1	0	0	0	0	1	0	0	0	3440	709	25	4	1904	4	CIT	12	120151395	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	7478324	120151395	13700500	45	22284											
ACOT2	10965	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74036025	74036025	+	Silent	SNP	C	C	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr14:74036025C>G	ENST00000238651.5	+	1	263	c.81C>G	c.(79-81)gtC>gtG	p.V27V	ACOT2_ENST00000538782.1_5'UTR	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	27					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.V27V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CTCCTGCTGTCCTTCGAGCGT	0.557																																																1	Substitution - coding silent(1)	kidney(1)											171	155	160					14																	74036025		2203	4300	6503	SO:0001819	synonymous_variant	10965			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"Acyl CoA thioesterases"	18431	protein-coding gene	gene with protein product	"mitochondrial acyl-CoA thioesterase 1"	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.81C>G	14.37:g.74036025C>G			Q3I5F8|Q53EK4|Q9NUX4	Silent	SNP	ENST00000238651.5	37	CCDS9816.1																																																																																				0.557	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		G	74036025	C	G	74036025	2	3	404	1	0	0	0	0	0	0	0	1	152	842	30	4		4	ACOT2	14	74036025	Silent	SNP	C	TCGA-BP-4993-01A-02D-1421-08		74036025	33313515	46	22285											
C14orf148	122945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77880341	77880341	+	Silent	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr14:77880341C>T	ENST00000380835.2	-	2	451	c.285G>A	c.(283-285)ctG>ctA	p.L95L	NOXRED1_ENST00000298358.3_Silent_p.L95L|FKSG61_ENST00000595520.1_5'Flank	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	95					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)	p.L95L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CAAGCTGCAGCAGTGTGCCAG	0.572																																																2	Substitution - coding silent(2)	kidney(2)											50	45	47					14																	77880341		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 148"	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.285G>A	14.37:g.77880341C>T			B3KQ47|O95435	Silent	SNP	ENST00000380835.2	37	CCDS45142.1																																																																																				0.572	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		T	77880341	C	T	77880341	2	4	404	1	0	0	0	0	0	0	0	1	1753	697	25	2		2	C14orf148	14	77880341	Silent	SNP	C	TCGA-BP-4993-01A-02D-1421-08	3844316	77880341	29469199	47	22286											
RYR3	6263	broad.mit.edu	37	15	34113725	34113725	+	Splice_Site	SNP	T	T	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr15:34113725T>G	ENST00000389232.4	+	80	10987	c.10917T>G	c.(10915-10917)ggT>ggG	p.G3639G	RYR3_ENST00000415757.3_Splice_Site_p.G3634G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3639					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)	p.G3638G(1)		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)		CCATGGCAGGTGAGATGAGCC	0.517																																																1	Substitution - coding silent(1)	kidney(1)											74	77	76					15																	34113725		2082	4218	6300	SO:0001630	splice_region_variant	6263				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.10916-1T>G	15.37:g.34113725T>G			O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Silent	G	34113725	T	G	34113725	5	3	404	1	0	0	0	0	0	0	1	0	13776	1710	59	5	11235	5	RYR3	15	34113725	Splice_Site	SNP	T	TCGA-BP-4993-01A-02D-1421-08		34113725	68417667	48	22287											
RPAP1	26015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41813028	41813028	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr15:41813028C>T	ENST00000304330.4	-	22	3472	c.3356G>A	c.(3355-3357)gGa>gAa	p.G1119E	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1119	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.G1119E(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGAGAGAGTCCCGAGGGGGT	0.662																																																1	Substitution - Missense(1)	kidney(1)											36	36	36					15																	41813028		2203	4300	6503	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3356G>A	15.37:g.41813028C>T	ENSP00000306123:p.Gly1119Glu		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.965352	0.00461	.	.	ENSG00000103932	ENST00000304330	T	0.68181	-0.31	5.31	3.27	0.37495	.	0.402146	0.29884	N	0.010956	T	0.43299	0.1241	N	0.14661	0.345	0.25210	N	0.989986	B	0.02656	0.0	B	0.04013	0.001	T	0.32188	-0.9916	10	0.87932	D	0	-10.3781	3.3013	0.06984	0.0:0.482:0.2097:0.3083	.	1119	Q9BWH6	RPAP1_HUMAN	E	1119	ENSP00000306123:G1119E	ENSP00000306123:G1119E	G	-	2	0	RPAP1	39600320	0.493000	0.26035	0.017000	0.16124	0.047000	0.14425	2.889000	0.48601	1.446000	0.47643	0.563000	0.77884	GGA		0.662	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		T	41813028	C	T	41813028	3	4	404	1	0	0	0	0	1	0	0	0	13547	855	30	2	841	2	RPAP1	15	41813028	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	7699303	41813028	60718364	49	22288											
DUOXA1	90527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45412823	45412824	+	Missense_Mutation	DNP	CG	CG	AA	rs147223934	byFrequency	TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr15:45412823_45412824CG>AA	ENST00000560572.1	-	4	525_526	c.520_521CG>TT	c.(520-522)CGc>TTc	p.R174F	DUOXA1_ENST00000558422.1_Missense_Mutation_p.R129F|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R174F|DUOXA1_ENST00000267803.4_Missense_Mutation_p.R174F|DUOXA1_ENST00000430224.2_Missense_Mutation_p.R129F|DUOXA1_ENST00000558996.1_Missense_Mutation_p.R129F	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	174					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R174C(1)|p.R174L(1)|p.R174S(1)|p.R174>?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		TCCCGCCAGGCGGTACTGGCGG	0.574																																																4	Substitution - Missense(3)|Complex(1)	kidney(3)|lung(1)																																								SO:0001583	missense	90527			BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.520_521delinsAA	15.37:g.45412823_45412824delinsAA	ENSP00000454084:p.Arg174Phe		Q8N6K9|Q96MI4	Missense_Mutation	SNP	ENST00000560572.1	37																																																																																					0.574	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		AA	45412824	CG	AA	45412823	3	1	404	1	0	0	0	0	1	0	0	0	4804	768	27	4	950	4	DUOXA1	15	45412823	Missense_Mutation	DNP	CG	TCGA-BP-4993-01A-02D-1421-08	3599795	45412823	57118569	50	22289											
CASKIN1	57524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2233883	2233883	+	Silent	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:2233883G>A	ENST00000343516.6	-	15	1568	c.1476C>T	c.(1474-1476)aaC>aaT	p.N492N	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	492	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.N492N(1)|p.N321N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CGCTGATGAAGTTGGGGGCGT	0.672																																																2	Substitution - coding silent(2)	kidney(2)											41	52	48					16																	2233883		2156	4271	6427	SO:0001819	synonymous_variant	57524			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1476C>T	16.37:g.2233883G>A			Q9P2P0	Silent	SNP	ENST00000343516.6	37	CCDS42103.1																																																																																				0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		A	2233883	G	A	2233883	2	1	404	1	0	0	0	0	0	0	0	1	2668	1020	36	2		2	CASKIN1	16	2233883	Silent	SNP	G	TCGA-BP-4993-01A-02D-1421-08		2233883	88120870	51	22290											
ARHGAP17	55114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24942263	24942263	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:24942263G>T	ENST00000289968.6	-	19	2426	c.2357C>A	c.(2356-2358)aCt>aAt	p.T786N	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.T708N|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	786	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.T786N(1)|p.T708N(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGGCTGTGCAGTTTCAGGGTT	0.637																																																2	Substitution - Missense(2)	kidney(2)											72	81	78					16																	24942263		2197	4300	6497	SO:0001583	missense	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2357C>A	16.37:g.24942263G>T	ENSP00000289968:p.Thr786Asn		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	5.740	0.320912	0.10845	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.20738	2.05;2.12	5.52	0.598	0.17512	.	0.526148	0.16016	N	0.233534	T	0.24160	0.0585	L	0.43152	1.355	0.09310	N	1	B;B;D;P;B	0.56035	0.145;0.09;0.974;0.578;0.144	B;B;P;B;B	0.53146	0.054;0.024;0.719;0.088;0.087	T	0.08269	-1.0730	10	0.42905	T	0.14	.	7.4494	0.27229	0.1689:0.2626:0.5685:0.0	.	708;786;319;619;347	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9;B4DVF3	.;RHG17_HUMAN;.;.;.	N	786;708;786	ENSP00000289968:T786N;ENSP00000303130:T708N	ENSP00000289968:T786N	T	-	2	0	ARHGAP17	24849764	0.002000	0.14202	0.008000	0.14137	0.001000	0.01503	0.905000	0.28504	0.248000	0.21435	-0.172000	0.13284	ACT		0.637	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		T	24942263	G	T	24942263	3	4	404	1	0	0	0	0	1	0	0	0	867	1029	36	4	296	4	ARHGAP17	16	24942263	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08	22708380	24942263	65412490	52	22291											
TOX3	27324	hgsc.bcm.edu	37	16	52478206	52478206	+	Silent	SNP	C	C	T	rs3743796	byFrequency	TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:52478206C>T	ENST00000219746.9	-	6	1253	c.969G>A	c.(967-969)agG>agA	p.R323R	TOX3_ENST00000407228.3_Silent_p.R318R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	323					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.R323R(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CGAGGCTGGCCCTGTATGCCG	0.468													C|||	506	0.101038	0.0522	0.0749	5008	,	,		15347	0.1488		0.0984	False		,,,				2504	0.1391															1	Substitution - coding silent(1)	stomach(1)						C	,	206,3442		5,196,1623	46	45	45		969,954	3	1	16	dbSNP_107	45	614,7562		26,562,3500	no	coding-synonymous,coding-synonymous	TOX3	NM_001080430.2,NM_001146188.1	,	31,758,5123	TT,TC,CC		7.5098,5.6469,6.935	,	323/577,318/572	52478206	820,11004	1824	4088	5912	SO:0001819	synonymous_variant	27324			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.969G>A	16.37:g.52478206C>T			B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	CCDS54009.1																																																																																				0.468	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		T	52478206	C	T	52478206	2	4	404	1	0	0	0	0	0	0	0	1	16384	622	22	2		2	TOX3	16	52478206	Silent	SNP	C	TCGA-BP-4993-01A-02D-1421-08	27535943	52478206	37876547	53	22292	169	2									
TOX3	27324	hgsc.bcm.edu	37	16	52478215	52478215	+	Silent	SNP	C	C	T	rs3743797	byFrequency	TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:52478215C>T	ENST00000219746.9	-	6	1244	c.960G>A	c.(958-960)gcG>gcA	p.A320A	TOX3_ENST00000407228.3_Silent_p.A315A	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	320					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.A320A(2)|p.A315A(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CCCTGTATGCCGCCAGGGCCT	0.463													C|||	506	0.101038	0.0522	0.0749	5008	,	,		15360	0.1488		0.0984	False		,,,				2504	0.1391															3	Substitution - coding silent(3)	prostate(2)|stomach(1)						C	,	208,3428		4,200,1614	49	47	48		960,945	-5.3	0.6	16	dbSNP_107	48	623,7555		26,571,3492	yes	coding-synonymous,coding-synonymous	TOX3	NM_001080430.2,NM_001146188.1	,	30,771,5106	TT,TC,CC		7.618,5.7206,7.034	,	320/577,315/572	52478215	831,10983	1818	4089	5907	SO:0001819	synonymous_variant	27324			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.960G>A	16.37:g.52478215C>T			B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	CCDS54009.1																																																																																				0.463	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		T	52478215	C	T	52478215	2	4	404	1	0	0	0	0	0	0	0	1	16384	639	23	1		1	TOX3	16	52478215	Silent	SNP	C	TCGA-BP-4993-01A-02D-1421-08	9	52478215	37876538	54	22293	169	2									
CHD9	80205	broad.mit.edu	37	16	53308192	53308192	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	G	G	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:53308192G>A	ENST00000398510.3	+	23	5032	c.4945G>A	c.(4945-4947)Gta>Ata	p.V1649I	CHD9_ENST00000447540.1_Missense_Mutation_p.V1649I|CHD9_ENST00000564845.1_Missense_Mutation_p.V1649I|CHD9_ENST00000566029.1_Missense_Mutation_p.V1649I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1649					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.V1649I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GTGTCAGAAAGTATTTGATGG	0.353																																																1	Substitution - Missense(1)	kidney(1)											126	108	114					16																	53308192		1842	4096	5938	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4945G>A	16.37:g.53308192G>A	ENSP00000381522:p.Val1649Ile		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	G	10.18	1.278145	0.23307	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.84298	-1.83;-1.83	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000097	T	0.74839	0.3769	N	0.13198	0.31	0.58432	D	0.999996	B;B;B;B	0.30146	0.096;0.189;0.176;0.27	B;B;B;B	0.32533	0.021;0.111;0.07;0.147	T	0.71324	-0.4627	10	0.07175	T	0.84	-13.9647	19.2099	0.93749	0.0:0.0:1.0:0.0	.	17;1649;1649;1649	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	I	1649;1649;17	ENSP00000396345:V1649I;ENSP00000381522:V1649I	ENSP00000381522:V1649I	V	+	1	0	CHD9	51865693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.317000	0.65822	2.644000	0.89710	0.563000	0.77884	GTA		0.353	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		A	53308192	G	A	53308192	3	1	404	1	0	0	0	0	1	0	0	0	3334	1029	36	2	5035	2	CHD9	16	53308192	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08	829977	53308192	37046561	55	22294											
THAP11	57215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67877045	67877045	+	Silent	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr16:67877045T>C	ENST00000303596.1	+	1	833	c.588T>C	c.(586-588)ttT>ttC	p.F196F	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F196F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		AAGTGGAGTTTGCAGCCGCAG	0.662																																																1	Substitution - coding silent(1)	kidney(1)											53	65	61					16																	67877045		2197	4300	6497	SO:0001819	synonymous_variant	57215			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.588T>C	16.37:g.67877045T>C			A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	CCDS10847.1																																																																																				0.662	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		C	67877045	T	C	67877045	2	2	404	1	0	0	0	0	0	0	0	1	15848	1809	63	3		3	THAP11	16	67877045	Silent	SNP	T	TCGA-BP-4993-01A-02D-1421-08	14568853	67877045	22477708	56	22295											
DULLARD	23399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7147938	7147938	+	Silent	SNP	G	G	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:7147938G>T	ENST00000573600.1	-	8	1027	c.606C>A	c.(604-606)atC>atA	p.I202I	GABARAP_ENST00000571129.1_5'Flank|GABARAP_ENST00000577035.1_5'Flank|CTDNEP1_ENST00000574322.1_Silent_p.I202I|GABARAP_ENST00000302386.5_5'Flank|CTDNEP1_ENST00000318988.6_Silent_p.I202I|GABARAP_ENST00000571253.1_5'Flank|CTDNEP1_ENST00000572043.1_Silent_p.I69I|CTD-2545G14.7_ENST00000570760.2_Nonsense_Mutation_p.S6*|GABARAP_ENST00000573928.1_5'Flank			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	202	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)	p.I202I(1)		central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCAGGATTTGATGGGGATGG	0.498																																																1	Substitution - coding silent(1)	kidney(1)											56	54	54					17																	7147938		2203	4300	6503	SO:0001819	synonymous_variant	23399			AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	19085	protein-coding gene	gene with protein product	"C-terminal domain nuclear envelope phosphatase 1"	610684	"dullard homolog (Xenopus laevis)"	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.606C>A	17.37:g.7147938G>T			D3DTN7|Q96GQ9	Silent	SNP	ENST00000573600.1	37	CCDS11093.1																																																																																				0.498	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		T	7147938	G	T	7147938	2	4	404	1	0	0	0	0	0	0	0	1	4801	1280	45	4		4	DULLARD	17	7147938	Silent	SNP	G	TCGA-BP-4993-01A-02D-1421-08		7147938	74047272	57	22296											
FXR2	9513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7508978	7508978	+	Silent	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:7508978T>C	ENST00000250113.7	-	3	547	c.213A>G	c.(211-213)gaA>gaG	p.E71E		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	71						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E71E(1)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTTCATCCCCTTCTGTGATCT	0.448																																																2	Unknown(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)											59	57	58					17																	7508978		1885	4120	6005	SO:0001819	synonymous_variant	9513			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.213A>G	17.37:g.7508978T>C			B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	CCDS45604.1																																																																																				0.448	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			C	7508978	T	C	7508978	2	2	404	1	0	0	0	0	0	0	0	1	6118	1606	56	3		3	FXR2	17	7508978	Silent	SNP	T	TCGA-BP-4993-01A-02D-1421-08	361040	7508978	73686232	58	22297											
LHX1	3975	broad.mit.edu	37	17	35299577	35299577	+	Silent	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:35299577C>T	ENST00000254457.5	+	4	2167	c.756C>T	c.(754-756)ttC>ttT	p.F252F	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	252					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.F252F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACGCCTTCTTCCGCAGTCCGC	0.711																																																1	Substitution - coding silent(1)	kidney(1)											10	13	12					17																	35299577		2163	4231	6394	SO:0001819	synonymous_variant	3975			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.756C>T	17.37:g.35299577C>T			Q3MIW0	Silent	SNP	ENST00000254457.5	37	CCDS11316.1																																																																																				0.711	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		T	35299577	C	T	35299577	2	4	404	1	0	0	0	0	0	0	0	1	8772	854	30	2		2	LHX1	17	35299577	Silent	SNP	C	TCGA-BP-4993-01A-02D-1421-08	27790599	35299577	45895633	59	22298											
ITGA3	3675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48148238	48148238	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:48148238G>T	ENST00000320031.8	+	5	1025	c.695G>T	c.(694-696)tGg>tTg	p.W232L	ITGA3_ENST00000007722.7_Missense_Mutation_p.W232L|ITGA3_ENST00000544892.1_Missense_Mutation_p.W7L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	232					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)	p.W232L(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CGCAAGGAGTGGGACTTATCT	0.493																																																2	Substitution - Missense(2)	kidney(2)											203	209	207					17																	48148238		2203	4300	6503	SO:0001583	missense	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.695G>T	17.37:g.48148238G>T	ENSP00000315190:p.Trp232Leu		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556816	0.86231	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.61274	0.12;0.12;0.12	5.69	5.69	0.88448	.	0.397394	0.30134	N	0.010332	T	0.58595	0.2133	L	0.43598	1.365	0.40621	D	0.981763	P;P	0.51653	0.947;0.847	P;B	0.52386	0.697;0.367	T	0.51718	-0.8670	10	0.11485	T	0.65	.	15.3058	0.73990	0.0:0.0:1.0:0.0	.	232;232	P26006-1;P26006	.;ITA3_HUMAN	L	7;232;218;232	ENSP00000446133:W7L;ENSP00000007722:W232L;ENSP00000315190:W232L	ENSP00000007722:W232L	W	+	2	0	ITGA3	45503237	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.342000	0.65970	2.682000	0.91365	0.655000	0.94253	TGG		0.493	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		T	48148238	G	T	48148238	3	4	404	1	0	0	0	0	1	0	0	0	7879	1357	47	4	713	4	ITGA3	17	48148238	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08	12848661	48148238	33046972	60	22299											
MARCH10	162333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60802312	60802312	+	Silent	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:60802312C>A	ENST00000311269.5	-	7	2365	c.2091G>T	c.(2089-2091)gtG>gtT	p.V697V	MARCH10_ENST00000456609.2_Silent_p.V697V|MARCH10_ENST00000583600.1_Silent_p.V735V|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000544856.2_Silent_p.V696V|RP11-156L14.1_ENST00000577270.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	697					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V697V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ATGTTATTTTCACTTTCAGCC	0.547																																																1	Substitution - coding silent(1)	kidney(1)											141	143	142					17																	60802312		2203	4300	6503	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.2091G>T	17.37:g.60802312C>A			D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	CCDS11635.1																																																																																				0.547	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		A	60802312	C	A	60802312	2	1	404	1	0	0	0	0	0	0	0	1	9301	813	29	4		4	MARCH10	17	60802312	Silent	SNP	C	TCGA-BP-4993-01A-02D-1421-08	12654074	60802312	20392898	61	22300											
DDX5	1655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62496043	62496043	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr17:62496043A>G	ENST00000225792.5	-	13	2244	c.1843T>C	c.(1843-1845)Taa>Caa	p.*615Q	POLG2_ENST00000539111.2_5'Flank|DDX5_ENST00000580026.1_5'Flank|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Nonstop_Mutation_p.*536Q|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Nonstop_Mutation_p.*615Q	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	0					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)	p.*615Q(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTAAAGTCTTATTGGGAATAT	0.353			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	2	Nonstop extension(2)	kidney(2)											82	71	74					17																	62496043		2203	4300	6503	SO:0001578	stop_lost	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1843T>C	17.37:g.62496043A>G	ENSP00000225792:p.*615Gluext*24		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.063753	0.76187	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2813	0.82687	1.0:0.0:0.0:0.0	.	.	.	.	Q	615;545;604	.	.	X	-	1	0	DDX5	59926505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.462000	0.90374	2.244000	0.73946	0.533000	0.62120	TAA		0.353	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		G	62496043	A	G	62496043	4	3	404	1	0	0	0	0	0	0	0	0	4369	462	16	3	5	3	DDX5	17	62496043	Nonstop_Mutation	SNP	A	TCGA-BP-4993-01A-02D-1421-08	1693731	62496043	18699167	62	22301											
RIOK3	8780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	21059323	21059323	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr18:21059323G>A	ENST00000339486.3	+	12	2004	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	RIOK3_ENST00000577501.1_Missense_Mutation_p.E460K|RIOK3_ENST00000581585.1_Missense_Mutation_p.E447K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	463	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E463K(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TAGTGAACGAGAACTCTTCAA	0.373																																																1	Substitution - Missense(1)	kidney(1)											119	107	111					18																	21059323		2203	4300	6503	SO:0001583	missense	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1387G>A	18.37:g.21059323G>A	ENSP00000341874:p.Glu463Lys		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158355	0.57368	.	.	ENSG00000101782	ENST00000339486	T	0.08008	3.14	5.75	4.88	0.63580	RIO kinase (1);Protein kinase-like domain (1);	0.151580	0.64402	D	0.000020	T	0.16428	0.0395	M	0.77486	2.375	0.80722	D	1	P;B;B;B	0.37548	0.599;0.003;0.01;0.006	B;B;B;B	0.37833	0.259;0.02;0.021;0.029	T	0.01869	-1.1257	10	0.87932	D	0	-14.5628	16.9176	0.86155	0.0:0.128:0.872:0.0	.	207;447;460;463	E7ESK5;B4E1Q4;O14730-2;O14730	.;.;.;RIOK3_HUMAN	K	463	ENSP00000341874:E463K	ENSP00000341874:E463K	E	+	1	0	RIOK3	19313321	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.787000	0.85759	1.428000	0.47296	0.551000	0.68910	GAA		0.373	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		A	21059323	G	A	21059323	3	1	404	1	0	0	0	0	1	0	0	0	13385	943	33	2	1433	2	RIOK3	18	21059323	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08		21059323	57017925	63	22302											
ZNF532	55205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	56587466	56587466	+	Silent	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr18:56587466T>C	ENST00000336078.4	+	4	2723	c.1947T>C	c.(1945-1947)tgT>tgC	p.C649C	ZNF532_ENST00000591230.1_Silent_p.C649C|ZNF532_ENST00000591083.1_Silent_p.C649C|ZNF532_ENST00000589288.1_Silent_p.C649C|ZNF532_ENST00000591808.1_Silent_p.C649C	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C649C(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCAACCATTGTACAAAGAACC	0.483																																																1	Substitution - coding silent(1)	kidney(1)											80	66	71					18																	56587466		2203	4300	6503	SO:0001819	synonymous_variant	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1947T>C	18.37:g.56587466T>C			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	CCDS11969.1																																																																																				0.483	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		C	56587466	T	C	56587466	2	2	404	1	0	0	0	0	0	0	0	1	17977	1644	57	3		3	ZNF532	18	56587466	Silent	SNP	T	TCGA-BP-4993-01A-02D-1421-08	35528143	56587466	21489782	64	22303											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9076252	9076252	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr19:9076252A>T	ENST00000397910.4	-	3	11397	c.11194T>A	c.(11194-11196)Tct>Act	p.S3732T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3733	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S3732T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGACAGAGAATCAAACAGA	0.493																																																2	Substitution - Missense(2)	kidney(2)											128	127	127					19																	9076252		1985	4174	6159	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11194T>A	19.37:g.9076252A>T	ENSP00000381008:p.Ser3732Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	4.217	0.039063	0.08148	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	1.76	-0.461	0.12172	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	.	.	.	D	0.55172	0.97	P	0.53146	0.719	T	0.45731	-0.9241	8	0.87932	D	0	.	4.3051	0.10942	0.663:0.0:0.337:0.0	.	3732	B5ME49	.	T	3732	ENSP00000381008:S3732T	ENSP00000381008:S3732T	S	-	1	0	MUC16	8937252	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-0.391000	0.07323	-0.204000	0.10235	0.260000	0.18958	TCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9076252	A	T	9076252	3	4	404	1	0	0	0	0	1	0	0	0	9975	246	9	5	32657	5	MUC16	19	9076252	Missense_Mutation	SNP	A	TCGA-BP-4993-01A-02D-1421-08		9076252	50052731	65	22304											
LRFN3	79414	broad.mit.edu	37	19	36435683	36435683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr19:36435683C>A	ENST00000588831.1	+	4	2703	c.1649C>A	c.(1648-1650)tCg>tAg	p.S550*	LRFN3_ENST00000246529.3_Nonsense_Mutation_p.S550*|AF038458.3_ENST00000592518.1_lincRNA			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	550					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S550*(1)|p.S550L(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCGTAGCCTCGGTACTGGTC	0.667																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	upper_aerodigestive_tract(1)|kidney(1)											41	29	33					19																	36435683		2203	4300	6503	SO:0001587	stop_gained	79414			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1649C>A	19.37:g.36435683C>A	ENSP00000466989:p.Ser550*		Q6UY10	Nonsense_Mutation	SNP	ENST00000588831.1	37	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	C	41	8.617035	0.98886	.	.	ENSG00000126243	ENST00000246529	.	.	.	5.08	5.08	0.68730	.	0.000000	0.32655	N	0.005801	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9413	0.79756	0.0:1.0:0.0:0.0	.	.	.	.	X	550	.	ENSP00000246529:S550X	S	+	2	0	LRFN3	41127523	1.000000	0.71417	0.848000	0.33437	0.456000	0.32438	7.745000	0.85046	2.359000	0.80004	0.591000	0.81541	TCG		0.667	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		A	36435683	C	A	36435683	4	1	404	1	0	0	0	0	0	1	0	0	8941	893	31	4	1655	4	LRFN3	19	36435683	Nonsense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08	27359431	36435683	22693300	66	22305											
ZFP112	7771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44833609	44833609	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr19:44833609A>G	ENST00000337401.4	-	5	807	c.719T>C	c.(718-720)aTc>aCc	p.I240T	ZNF112_ENST00000536500.1_Missense_Mutation_p.I257T|ZNF112_ENST00000354340.4_Missense_Mutation_p.I234T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I234T(1)|p.I240T(1)									TACCTTCATGATATCTTCTCC	0.408																																																2	Substitution - Missense(2)	kidney(2)											117	115	116					19																	44833609		2203	4300	6503	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.719T>C	19.37:g.44833609A>G	ENSP00000337081:p.Ile240Thr		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	A	4.564	0.104780	0.08731	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.05786	3.39;3.4;3.4	4.85	-3.02	0.05446	.	0.481213	0.15374	N	0.265715	T	0.04998	0.0134	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.27262	-1.0079	10	0.59425	D	0.04	2.7364	11.7994	0.52118	0.4905:0.0:0.5095:0.0	.	239;257;240	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	T	240;240;234;257;239	ENSP00000337081:I240T;ENSP00000346305:I234T;ENSP00000441990:I257T	ENSP00000253426:I239T	I	-	2	0	ZNF285	49525449	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.515000	0.06290	-0.795000	0.04462	-0.379000	0.06801	ATC		0.408	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		G	44833609	A	G	44833609	3	3	404	1	0	0	0	0	1	0	0	0	17643	333	12	3	2026	3	ZFP112	19	44833609	Missense_Mutation	SNP	A	TCGA-BP-4993-01A-02D-1421-08	8397926	44833609	14295374	67	22306											
CCDC8	83987	hgsc.bcm.edu	37	19	46914620	46914620	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr19:46914620delG	ENST00000307522.3	-	1	2221	c.1448delC	c.(1447-1449)cctfs	p.P483fs		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	483					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AAAGCGTCCAGGGGTCTGGAA	0.622																																																0													59	63	62					19																	46914620		2203	4300	6503	SO:0001589	frameshift_variant	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1448delC	19.37:g.46914620delG	ENSP00000303158:p.Pro483fs		Q8TB26	Frame_Shift_Del	DEL	ENST00000307522.3	37	CCDS12685.1																																																																																				0.622	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		-	46914620	G	-	46914620	7	5	404	1	0	1	0	1	0	0	0	0	2855	1000	35	0	172	0	CCDC8	19	46914620	Frame_Shift_Del	DEL	G	TCGA-BP-4993-01A-02D-1421-08	2081011	46914620	12214363	68	22307											
NLRP7	199713	broad.mit.edu;hgsc.bcm.edu	37	19	55450880	55450880	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr19:55450880T>C	ENST00000590030.1	-	3	1347	c.1307A>G	c.(1306-1308)gAa>gGa	p.E436G	NLRP7_ENST00000588756.1_Missense_Mutation_p.E436G|NLRP7_ENST00000448121.2_Missense_Mutation_p.E436G|NLRP7_ENST00000340844.2_Missense_Mutation_p.E436G|NLRP7_ENST00000328092.5_Missense_Mutation_p.E436G|NLRP7_ENST00000592784.1_Missense_Mutation_p.E436G|NLRP7_ENST00000446217.1_Missense_Mutation_p.E464G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	436	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.E436G(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCCGAGCCTTTCCAGGTCCTC	0.677																																																2	Substitution - Missense(2)	kidney(2)											40	35	37					19																	55450880		2203	4299	6502	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1307A>G	19.37:g.55450880T>C	ENSP00000465520:p.Glu436Gly		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	4.042	0.005414	0.07866	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.75050	-0.83;-0.83;-0.9;-0.87	2.06	-4.13	0.03904	.	3.343310	0.01252	N	0.008903	T	0.61489	0.2351	L	0.35593	1.075	0.09310	N	1	B;B;B;B	0.19583	0.022;0.022;0.022;0.037	B;B;B;B	0.22880	0.019;0.019;0.019;0.042	T	0.41627	-0.9498	10	0.40728	T	0.16	.	4.1695	0.10322	0.1661:0.2449:0.0:0.589	.	464;436;436;436	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	G	436;436;436;464;203	ENSP00000329568:E436G;ENSP00000409137:E436G;ENSP00000339491:E436G;ENSP00000414273:E464G	ENSP00000329568:E436G	E	-	2	0	NLRP7	60142692	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.772000	0.01787	-1.625000	0.01554	-0.464000	0.05259	GAA		0.677	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		C	55450880	T	C	55450880	3	2	404	1	0	0	0	0	1	0	0	0	10484	1783	62	3	1838	3	NLRP7	19	55450880	Missense_Mutation	SNP	T	TCGA-BP-4993-01A-02D-1421-08	8536260	55450880	3678103	69	22308											
PANK2	80025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3899360	3899360	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr20:3899360A>C	ENST00000316562.4	+	6	1585	c.1579A>C	c.(1579-1581)Aat>Cat	p.N527H	MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000610179.1_Missense_Mutation_p.N404H|PANK2_ENST00000497424.1_Missense_Mutation_p.N236H	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	527					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.N527H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTGAGAATTAATACGATCGC	0.378																																																1	Substitution - Missense(1)	kidney(1)											172	174	173					20																	3899360		2203	4300	6503	SO:0001583	missense	80025			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1579A>C	20.37:g.3899360A>C	ENSP00000313377:p.Asn527His		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062927	0.76187	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.99494	-6.01;-6.01	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.98102	0.9374	N	0.25825	0.765	0.54753	D	0.999984	P	0.41475	0.751	P	0.48677	0.586	D	0.98818	1.0746	10	0.13108	T	0.6	.	12.9199	0.58226	1.0:0.0:0.0:0.0	.	527	Q9BZ23	PANK2_HUMAN	H	236;527;343	ENSP00000417609:N236H;ENSP00000313377:N527H	ENSP00000313377:N527H	N	+	1	0	PANK2	3847360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.107000	0.94261	2.148000	0.66965	0.533000	0.62120	AAT		0.378	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		C	3899360	A	C	3899360	3	2	404	1	0	0	0	0	1	0	0	0	11419	362	13	5	1601	5	PANK2	20	3899360	Missense_Mutation	SNP	A	TCGA-BP-4993-01A-02D-1421-08		3899360	59126160	70	22309											
SMOX	54498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	4164251	4164251	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr20:4164251G>A	ENST00000305958.4	+	6	1705	c.1480G>A	c.(1480-1482)Gtg>Atg	p.V494M	SMOX_ENST00000339123.6_Missense_Mutation_p.V441M|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.V494M|SMOX_ENST00000278795.3_Missense_Mutation_p.V441M	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	494					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.V441M(1)|p.V494M(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CGGGGCGGATGTGGAGAAGCT	0.597																																																2	Substitution - Missense(2)	kidney(2)											38	42	41					20																	4164251		2203	4300	6503	SO:0001583	missense	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1480G>A	20.37:g.4164251G>A	ENSP00000307252:p.Val494Met		A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061077	0.36373	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.22	5.22	0.72569	Amine oxidase (1);	0.213068	0.38111	N	0.001816	D	0.90556	0.7040	N	0.21142	0.635	0.48135	D	0.999593	B;D;B;P;P	0.53151	0.295;0.958;0.093;0.941;0.771	B;P;B;P;P	0.53809	0.22;0.724;0.235;0.735;0.632	D	0.90473	0.4454	10	0.39692	T	0.17	-16.5482	16.284	0.82710	0.0:0.0:1.0:0.0	.	418;494;494;441;441	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	M	441;494;441;494;351	ENSP00000344595:V441M;ENSP00000307252:V494M;ENSP00000278795:V441M;ENSP00000368773:V494M;ENSP00000407269:V351M	ENSP00000278795:V441M	V	+	1	0	SMOX	4112251	1.000000	0.71417	0.949000	0.38748	0.727000	0.41649	5.359000	0.66074	2.435000	0.82474	0.655000	0.94253	GTG		0.597	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		A	4164251	G	A	4164251	3	1	404	1	0	0	0	0	1	0	0	0	14809	1377	48	2	1498	2	SMOX	20	4164251	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08	264891	4164251	58861269	71	22310											
PAK7	57144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	9520140	9520140	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr20:9520140A>T	ENST00000378429.3	-	11	2675	c.2129T>A	c.(2128-2130)gTc>gAc	p.V710D	PAK7_ENST00000353224.5_Missense_Mutation_p.V710D|PAK7_ENST00000378423.1_Missense_Mutation_p.V710D	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	710					apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V710D(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CATGAGGGGGACGATGCAAGA	0.493																																																1	Substitution - Missense(1)	kidney(1)											237	218	224					20																	9520140		2203	4300	6503	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.2129T>A	20.37:g.9520140A>T	ENSP00000367686:p.Val710Asp		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.885211	0.91814	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.75260	-0.92;-0.92;-0.92	5.48	5.48	0.80851	.	0.054780	0.64402	D	0.000001	T	0.75997	0.3926	L	0.57536	1.79	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.48166	0.569;0.569	T	0.76605	-0.2898	9	.	.	.	.	15.5739	0.76359	1.0:0.0:0.0:0.0	.	710;710	B0AZM9;Q9P286	.;PAK7_HUMAN	D	710;710;710;571	ENSP00000367686:V710D;ENSP00000322957:V710D;ENSP00000367679:V710D	.	V	-	2	0	PAK7	9468140	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.339000	0.96797	2.099000	0.63709	0.533000	0.62120	GTC		0.493	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			T	9520140	A	T	9520140	3	4	404	1	0	0	0	0	1	0	0	0	11407	275	10	5	34	5	PAK7	20	9520140	Missense_Mutation	SNP	A	TCGA-BP-4993-01A-02D-1421-08	5355889	9520140	53505380	72	22311											
DEFB116	245930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	29891069	29891069	+	Silent	SNP	G	G	A	rs552225179		TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr20:29891069G>A	ENST00000400549.1	-	2	254	c.255C>T	c.(253-255)taC>taT	p.Y85Y		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	85					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.Y85Y(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGTTAGAGTCGTAATCCTCCT	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22292	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											290	264	272					20																	29891069		1860	4104	5964	SO:0001819	synonymous_variant	245930			DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"Defensins, beta"	18097	protein-coding gene	gene with protein product	"defensin, beta 16"					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.255C>T	20.37:g.29891069G>A				Silent	SNP	ENST00000400549.1	37	CCDS42860.1																																																																																				0.378	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731		A	29891069	G	A	29891069	2	1	404	1	0	0	0	0	0	0	0	1	4407	1140	40	1		1	DEFB116	20	29891069	Silent	SNP	G	TCGA-BP-4993-01A-02D-1421-08	20370929	29891069	33134451	73	22312											
MCM3AP	8888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47692476	47692476	+	Splice_Site	SNP	T	T	A			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr21:47692476T>A	ENST00000397708.1	-	9	2718	c.2464A>T	c.(2464-2466)Aga>Tga	p.R822*	MCM3AP_ENST00000291688.1_Splice_Site_p.R822*			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	822	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.R822*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAAATTCACCTTAGGATGTCT	0.488																																																1	Substitution - Nonsense(1)	kidney(1)											122	110	114					21																	47692476		2203	4300	6503	SO:0001630	splice_region_variant	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2465+1A>T	21.37:g.47692476T>A			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Nonsense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	39	7.494183	0.98319	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	.	.	.	5.59	5.59	0.84812	.	0.086330	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9855	15.7868	0.78310	0.0:0.0:0.0:1.0	.	.	.	.	X	822	.	ENSP00000291688:R822X	R	-	1	2	MCM3AP	46516904	1.000000	0.71417	0.988000	0.46212	0.268000	0.26511	6.240000	0.72363	2.140000	0.66376	0.460000	0.39030	AGA		0.488	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906	Nonsense_Mutation	A	47692476	T	A	47692476	5	1	404	1	0	0	0	0	0	0	1	0	9390	1623	56	5	3562	5	MCM3AP	21	47692476	Splice_Site	SNP	T	TCGA-BP-4993-01A-02D-1421-08		47692476	437419	74	22313											
MN1	4330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	28192794	28192794	+	Silent	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chr22:28192794C>T	ENST00000302326.4	-	1	4692	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1246					intramembranous ossification (GO:0001957)			p.A1246A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCTCCCAGGGCGCCAACGTCT	0.622			T	ETV6	"AML, meningioma"																																		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	1	Substitution - coding silent(1)	kidney(1)											95	101	99					22																	28192794		2123	4221	6344	SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3738G>A	22.37:g.28192794C>T			A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.622	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		T	28192794	C	T	28192794	2	4	404	1	0	0	0	0	0	0	0	1	9675	755	27	1		1	MN1	22	28192794	Silent	SNP	C	TCGA-BP-4993-01A-02D-1421-08		28192794	23111772	75	22314											
MAP7D3	79649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135314179	135314179	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chrX:135314179C>T	ENST00000316077.9	-	8	1157	c.937G>A	c.(937-939)Gta>Ata	p.V313I	MAP7D3_ENST00000370663.5_Missense_Mutation_p.V295I|MAP7D3_ENST00000370661.1_Missense_Mutation_p.V278I	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	313					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.V610I(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTGCAGAATACTTCCACATTC	0.547																																																1	Substitution - Missense(1)	kidney(1)											172	173	173					X																	135314179		2114	4201	6315	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.937G>A	X.37:g.135314179C>T	ENSP00000318086:p.Val313Ile		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	0.554	-0.848003	0.02651	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.0	0.131	0.14755	.	.	.	.	.	T	0.03564	0.0102	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.14012	0.005;0.009;0.005;0.003	B;B;B;B	0.12837	0.004;0.008;0.002;0.004	T	0.46898	-0.9158	9	0.11794	T	0.64	0.5114	4.3233	0.11027	0.1784:0.5634:0.0:0.2582	.	295;272;313;278	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	I	278;313;295;272	ENSP00000359695:V278I;ENSP00000318086:V313I;ENSP00000359697:V295I;ENSP00000359694:V272I	ENSP00000318086:V313I	V	-	1	0	MAP7D3	135141845	0.011000	0.17503	0.000000	0.03702	0.048000	0.14542	1.943000	0.40253	-0.079000	0.12707	0.499000	0.49734	GTA		0.547	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			T	135314179	C	T	135314179	3	4	404	1	0	0	0	0	1	0	0	0	9271	565	20	2	1737	2	MAP7D3	23	135314179	Missense_Mutation	SNP	C	TCGA-BP-4993-01A-02D-1421-08		135314179	19956381	76	22315											
MAGEC1	9947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	140993825	140993825	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4993-01A-02D-1421-08	TCGA-BP-4993-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	34315bea-6ef2-42ec-b17e-c73eed40647f	e592ee8d-8949-4639-a397-3035c7ab07ad	g.chrX:140993825G>C	ENST00000285879.4	+	4	921	c.635G>C	c.(634-636)aGt>aCt	p.S212T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	212								p.S212T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTATTGAGTATTTTCCAG	0.502										HNSCC(15;0.026)																																						1	Substitution - Missense(1)	kidney(1)											128	135	133					X																	140993825		2203	4298	6501	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.635G>C	X.37:g.140993825G>C	ENSP00000285879:p.Ser212Thr		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	1.008	-0.688882	0.03328	.	.	ENSG00000155495	ENST00000285879	T	0.02197	4.4	.	.	.	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.33961	D	0.645686	P	0.38110	0.618	B	0.25884	0.064	T	0.55566	-0.8121	8	0.87932	D	0	.	5.8503	0.18689	9.0E-4:0.0:0.9991:0.0	.	212	O60732	MAGC1_HUMAN	T	212	ENSP00000285879:S212T	ENSP00000285879:S212T	S	+	2	0	MAGEC1	140821491	0.997000	0.39634	0.193000	0.23327	0.193000	0.23685	0.039000	0.13884	0.054000	0.16065	0.054000	0.15206	AGT		0.502	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		C	140993825	G	C	140993825	3	2	404	1	0	0	0	0	1	0	0	0	9182	1029	36	4	641	4	MAGEC1	23	140993825	Missense_Mutation	SNP	G	TCGA-BP-4993-01A-02D-1421-08	5679646	140993825	14276735	77	22316											
ATP1A1	476	broad.mit.edu	37	1	116939279	116939281	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr1:116939279_116939281delCAT	ENST00000295598.5	+	14	2148_2150	c.1896_1898delCAT	c.(1894-1899)ggcatc>ggc	p.I634del	ATP1A1_ENST00000369496.4_In_Frame_Del_p.I603del|ATP1A1_ENST00000537345.1_In_Frame_Del_p.I634del	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	634					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AAGGTGTGGGCATCATCTCAGAA	0.493																																																0																																										SO:0001651	inframe_deletion	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1896_1898delCAT	1.37:g.116939282_116939284delCAT	ENSP00000295598:p.Ile634del		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	In_Frame_Del	DEL	ENST00000295598.5	37	CCDS887.1																																																																																				0.493	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		-	116939281	CAT	-	116939279	7	5	405	1	0	1	0	1	0	0	0	0	1128	697	25	0	1966	0	ATP1A1	1	116939279	In_Frame_Del	DEL	CAT	TCGA-BP-4994-01A-01D-1462-08		116939279	132311342	1	22317											
MRPL9	65005	broad.mit.edu	37	1	151735551	151735551	+	Silent	SNP	C	C	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr1:151735551C>T	ENST00000368830.3	-	2	309	c.225G>A	c.(223-225)cgG>cgA	p.R75R	RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000315067.8_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000453029.2_5'Flank|MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Silent_p.R75R|OAZ3_ENST00000479764.1_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	75					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGCGATGTCGCCGGTGCAGGC	0.657																																																0													49	52	51					1																	151735551		2203	4300	6503	SO:0001819	synonymous_variant	65005			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"Mitochondrial ribosomal proteins / large subunits"	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.225G>A	1.37:g.151735551C>T			B2RD99|Q5SZR2|Q9BSW8	Silent	SNP	ENST00000368830.3	37	CCDS1003.1																																																																																				0.657	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		T	151735551	C	T	151735551	2	4	405	1	0	0	0	0	0	0	0	1	9822	726	26	2		2	MRPL9	1	151735551	Silent	SNP	C	TCGA-BP-4994-01A-01D-1462-08	34796272	151735551	97515070	2	22318											
FCRLB	127943	broad.mit.edu	37	1	161695855	161695855	+	Silent	SNP	T	T	C			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr1:161695855T>C	ENST00000367948.2	+	6	767	c.552T>C	c.(550-552)gcT>gcC	p.A184A	FCRLB_ENST00000367945.1_Silent_p.A177A|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367946.3_Silent_p.A184A|FCRLB_ENST00000392158.1_Silent_p.A184A|FCRLB_ENST00000367944.3_Silent_p.A177A|FCRLB_ENST00000336830.5_Silent_p.A184A			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	184	Ig-like C2-type 2.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGTTCTCCGCTAAGGTGGCTG	0.622											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													34	37	36					1																	161695855		2203	4300	6503	SO:0001819	synonymous_variant	127943			AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.552T>C	1.37:g.161695855T>C		1818	A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Silent	SNP	ENST00000367948.2	37	CCDS30927.1																																																																																				0.622	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		C	161695855	T	C	161695855	2	2	405	1	0	0	0	0	0	0	0	1	5803	1509	53	3		3	FCRLB	1	161695855	Silent	SNP	T	TCGA-BP-4994-01A-01D-1462-08	9960304	161695855	87554766	3	22319											
CYP1B1	1545	broad.mit.edu	37	2	38297920	38297920	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr2:38297920A>G	ENST00000260630.3	-	3	1978	c.1577T>C	c.(1576-1578)aTg>aCg	p.M526T	CYP1B1_ENST00000407341.1_Missense_Mutation_p.M526T|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	526					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	AAGGAGCTCCATGGACTCTCT	0.403																																																0													100	103	102					2																	38297920		2203	4300	6503	SO:0001583	missense	1545			U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"Cytochrome P450s"	2597	protein-coding gene	gene with protein product		601771	"cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1577T>C	2.37:g.38297920A>G	ENSP00000260630:p.Met526Thr		Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	A	9.487	1.099557	0.20552	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.69806	-0.43;-0.43	5.84	5.84	0.93424	.	0.221574	0.53938	D	0.000053	T	0.52869	0.1761	L	0.38838	1.175	0.29887	N	0.825499	B	0.17667	0.023	B	0.17979	0.02	T	0.44421	-0.9329	10	0.02654	T	1	.	14.1689	0.65495	1.0:0.0:0.0:0.0	.	526	Q53TK1	.	T	526	ENSP00000260630:M526T;ENSP00000384972:M526T	ENSP00000260630:M526T	M	-	2	0	CYP1B1	38151424	0.998000	0.40836	1.000000	0.80357	0.947000	0.59692	3.928000	0.56506	2.223000	0.72356	0.533000	0.62120	ATG		0.403	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		G	38297920	A	G	38297920	3	3	405	1	0	0	0	0	1	0	0	0	4153	217	8	3	58	3	CYP1B1	2	38297920	Missense_Mutation	SNP	A	TCGA-BP-4994-01A-01D-1462-08		38297920	204901453	4	22320											
ATG7	10533	broad.mit.edu	37	3	11383734	11383734	+	Missense_Mutation	SNP	A	A	G	rs149127802		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr3:11383734A>G	ENST00000354449.3	+	11	1131	c.1106A>G	c.(1105-1107)aAt>aGt	p.N369S	ATG7_ENST00000446450.2_Missense_Mutation_p.N330S|ATG7_ENST00000354956.5_Missense_Mutation_p.N369S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	369					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTGGGTTGCAATGTAGCTAGG	0.468																																																0								A	SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	176	168	170		1106,989,1106	4.7	1	3	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ATG7	NM_001136031.2,NM_001144912.1,NM_006395.2	46,46,46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	369/677,330/624,369/704	11383734	1,13005	2203	4300	6503	SO:0001583	missense	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1106A>G	3.37:g.11383734A>G	ENSP00000346437:p.Asn369Ser		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563932	0.45694	0.0	1.16E-4	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.29142	1.58;1.58;1.58	5.87	4.73	0.59995	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.098980	0.64402	D	0.000002	T	0.27241	0.0668	L	0.52011	1.625	0.48696	D	0.999693	B;B;B	0.30563	0.136;0.092;0.285	B;B;B	0.35859	0.099;0.053;0.212	T	0.06552	-1.0820	10	0.23302	T	0.38	-25.9376	7.1315	0.25504	0.8385:0.0:0.1615:0.0	.	330;369;369	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	S	330;369;369	ENSP00000412580:N330S;ENSP00000347042:N369S;ENSP00000346437:N369S	ENSP00000346437:N369S	N	+	2	0	ATG7	11358734	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	5.311000	0.65786	2.248000	0.74166	0.533000	0.62120	AAT		0.468	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		G	11383734	A	G	11383734	3	3	405	1	0	0	0	0	1	0	0	0	1101	101	4	3	1144	3	ATG7	3	11383734	Missense_Mutation	SNP	A	TCGA-BP-4994-01A-01D-1462-08		11383734	186638696	5	22321											
MST1R	4486	broad.mit.edu	37	3	49924839	49924839	+	Silent	SNP	C	C	G	rs371877454		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr3:49924839C>G	ENST00000296474.3	-	20	4131	c.4104G>C	c.(4102-4104)tcG>tcC	p.S1368S	MST1R_ENST00000344206.4_Silent_p.S1319S	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1368					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCATCTCATGCGAGGTGCTGG	0.597																																																0													129	116	120					3																	49924839		2203	4300	6503	SO:0001819	synonymous_variant	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4104G>C	3.37:g.49924839C>G			B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	CCDS2807.1																																																																																				0.597	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			G	49924839	C	G	49924839	2	3	405	1	0	0	0	0	0	0	0	1	9893	755	27	4		4	MST1R	3	49924839	Silent	SNP	C	TCGA-BP-4994-01A-01D-1462-08	38541105	49924839	148097591	6	22322											
DTX3L	151636	broad.mit.edu	37	3	122289368	122289371	+	Frame_Shift_Del	DEL	AAGG	AAGG	-	rs9868175|rs181955910	byFrequency	TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr3:122289368_122289371delAAGG	ENST00000296161.4	+	4	2191_2194	c.2002_2005delAAGG	c.(2002-2007)aaggaafs	p.KE668fs	DTX3L_ENST00000383661.3_Frame_Shift_Del_p.KE156fs	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	668			K -> M (in dbSNP:rs9868175).		cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GCCTGATAATAAGGAAGGAAGGAA	0.426																																																0																																										SO:0001589	frameshift_variant	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.2002_2005delAAGG	3.37:g.122289376_122289379delAAGG	ENSP00000296161:p.Lys668fs		B3KWH6|Q53ZZ3|Q5MJP7	Frame_Shift_Del	DEL	ENST00000296161.4	37	CCDS3015.1																																																																																				0.426	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		-	122289371	AAGG	-	122289368	7	5	405	1	0	1	0	1	0	0	0	0	4798	363	13	0	2016	0	DTX3L	3	122289368	Frame_Shift_Del	DEL	AAGG	TCGA-BP-4994-01A-01D-1462-08	72364529	122289368	75733062	7	22323											
RUFY3	22902	broad.mit.edu	37	4	71634338	71634338	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr4:71634338A>T	ENST00000226328.4	+	5	1219	c.656A>T	c.(655-657)gAt>gTt	p.D219V	RUFY3_ENST00000536664.1_Missense_Mutation_p.D203V|RUFY3_ENST00000502653.1_Missense_Mutation_p.D166V|RUFY3_ENST00000417478.2_Missense_Mutation_p.D279V|RUFY3_ENST00000381006.3_Missense_Mutation_p.D219V	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	219	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AATGTCATTGATGCCAATTTC	0.453																																																0													212	200	204					4																	71634338		2203	4300	6503	SO:0001583	missense	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.656A>T	4.37:g.71634338A>T	ENSP00000226328:p.Asp219Val		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.016697	0.93404	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.63	5.63	0.86233	RUN (3);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.997	D;D;D;D	0.97110	1.0;0.997;0.997;0.988	T	0.56980	-0.7889	10	0.87932	D	0	-14.6897	15.8371	0.78808	1.0:0.0:0.0:0.0	.	203;219;219;279	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	V	155;279;219;219;203;155;166	ENSP00000426734:D155V;ENSP00000399771:D279V;ENSP00000370394:D219V;ENSP00000226328:D219V;ENSP00000443652:D203V;ENSP00000425574:D155V;ENSP00000425400:D166V	ENSP00000226328:D219V	D	+	2	0	RUFY3	71853202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.142000	0.94618	2.144000	0.66660	0.455000	0.32223	GAT		0.453	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		T	71634338	A	T	71634338	3	4	405	1	0	0	0	0	1	0	0	0	13746	333	12	5	1036	5	RUFY3	4	71634338	Missense_Mutation	SNP	A	TCGA-BP-4994-01A-01D-1462-08		71634338	119519938	8	22324											
GFM2	84340	broad.mit.edu	37	5	74021464	74021464	+	Splice_Site	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr5:74021464C>A	ENST00000296805.3	-	19	2486		c.e19+1		GFM2_ENST00000345239.2_Splice_Site|GFM2_ENST00000509430.1_Splice_Site|RNU6-658P_ENST00000384606.1_RNA|GFM2_ENST00000515125.1_Intron	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TAGTTCTATACCTTTTGCACG	0.423																																																0													102	93	96					5																	74021464		2203	4300	6503	SO:0001630	splice_region_variant	84340			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.2028+1G>T	5.37:g.74021464C>A				Splice_Site	SNP	ENST00000296805.3	37	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268929	0.80469	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GFM2	74057220	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.841000	0.75374	2.758000	0.94735	0.563000	0.77884	.		0.423	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	Intron	A	74021464	C	A	74021464	5	1	405	1	0	0	0	0	0	0	1	0	6344	521	18	4	322	4	GFM2	5	74021464	Splice_Site	SNP	C	TCGA-BP-4994-01A-01D-1462-08		74021464	106893796	9	22325											
PCDHA10	56139	broad.mit.edu	37	5	140236489	140236489	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr5:140236489C>G	ENST00000307360.5	+	1	856	c.856C>G	c.(856-858)Ccc>Gcc	p.P286A	PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286A|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGGTCCCACCCACGATAAG	0.358																																																0													72	71	71					5																	140236489		2196	4269	6465	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.856C>G	5.37:g.140236489C>G	ENSP00000304234:p.Pro286Ala		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.104971	0.00356	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.60920	0.15;0.15	4.29	-1.26	0.09376	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37732	0.1014	L	0.43554	1.36	0.09310	N	1	B;B;B	0.13594	0.008;0.006;0.001	B;B;B	0.15484	0.01;0.013;0.004	T	0.23368	-1.0190	9	0.11182	T	0.66	.	1.3387	0.02150	0.1654:0.308:0.2892:0.2374	.	286;286;286	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	A	286	ENSP00000421030:P286A;ENSP00000304234:P286A	ENSP00000304234:P286A	P	+	1	0	PCDHA10	140216673	0.000000	0.05858	0.000000	0.03702	0.396000	0.30629	-4.188000	0.00277	-0.066000	0.12998	0.561000	0.74099	CCC		0.358	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		G	140236489	C	G	140236489	3	3	405	1	0	0	0	0	1	0	0	0	11522	507	18	4	858	4	PCDHA10	5	140236489	Missense_Mutation	SNP	C	TCGA-BP-4994-01A-01D-1462-08	66215025	140236489	40678771	10	22326											
PCDHA1	9752	broad.mit.edu	37	5	140362135	140362135	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr5:140362135C>A	ENST00000532602.1	+	3	3562	c.2529C>A	c.(2527-2529)tcC>tcA	p.S843S	PCDHAC2_ENST00000289269.5_Silent_p.S900S|PCDHA1_ENST00000504120.2_Silent_p.S843S|PCDHAC1_ENST00000253807.2_Silent_p.S856S|PCDHA3_ENST00000522353.2_Silent_p.S843S|PCDHA5_ENST00000529859.1_Silent_p.S829S|PCDHA6_ENST00000529310.1_Silent_p.S843S|PCDHA6_ENST00000527624.1_Silent_p.S579S|PCDHA4_ENST00000530339.1_Silent_p.S840S|PCDHA11_ENST00000398640.2_Silent_p.S842S|PCDHA13_ENST00000289272.2_Silent_p.S843S|PCDHA4_ENST00000512229.2_Silent_p.S840S|PCDHA2_ENST00000526136.1_Silent_p.S841S|PCDHA10_ENST00000506939.2_Silent_p.S578S|PCDHA10_ENST00000307360.5_Silent_p.S841S|PCDHA5_ENST00000529619.1_Silent_p.S829S|PCDHA7_ENST00000525929.1_Silent_p.S830S|PCDHA12_ENST00000398631.2_Silent_p.S834S|PCDHA13_ENST00000409494.1_Silent_p.S843S|PCDHA1_ENST00000394633.3_Silent_p.S579S|PCDHA8_ENST00000531613.1_Silent_p.S843S	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	843	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAGTATCCAGTGCAACAC	0.498																																					Melanoma(55;1800 1972 14909)											0													110	101	104					5																	140362135		2203	4300	6503	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2529C>A	5.37:g.140362135C>A			O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.498	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		A	140362135	C	A	140362135	2	1	405	1	0	0	0	0	0	0	0	1	11521	581	21	4		4	PCDHA1	5	140362135	Silent	SNP	C	TCGA-BP-4994-01A-01D-1462-08	125646	140362135	40553125	11	22327											
DOPEY1	23033	broad.mit.edu	37	6	83845475	83845475	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr6:83845475delA	ENST00000349129.2	+	20	3268	c.3008delA	c.(3007-3009)catfs	p.H1003fs	DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.H994fs|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.H984fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1003					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTCCTGCTTCATCCAAAAACT	0.453																																																0													164	147	152					6																	83845475		2203	4299	6502	SO:0001589	frameshift_variant	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3008delA	6.37:g.83845475delA	ENSP00000195654:p.His1003fs		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Frame_Shift_Del	DEL	ENST00000349129.2	37	CCDS4996.1																																																																																				0.453	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		-	83845475	A	-	83845475	7	5	405	1	0	1	0	1	0	0	0	0	4709	217	8	0	3078	0	DOPEY1	6	83845475	Frame_Shift_Del	DEL	A	TCGA-BP-4994-01A-01D-1462-08		83845475	87269592	12	22328											
CARD11	84433	broad.mit.edu	37	7	2977611	2977611	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr7:2977611C>G	ENST00000396946.4	-	8	1476	c.1073G>C	c.(1072-1074)tGt>tCt	p.C358S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	358					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTACATTTCACAGTCCTTTCC	0.572			Mis		DLBCL																																		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													148	120	130					7																	2977611		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1073G>C	7.37:g.2977611C>G	ENSP00000380150:p.Cys358Ser		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214602	0.79352	.	.	ENSG00000198286	ENST00000396946	T	0.32515	1.45	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	N	0.25201	0.72	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.11518	-1.0584	10	0.33141	T	0.24	-23.901	13.0816	0.59117	0.0:0.8388:0.1612:0.0	.	358	Q9BXL7	CAR11_HUMAN	S	358	ENSP00000380150:C358S	ENSP00000380150:C358S	C	-	2	0	CARD11	2944137	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.780000	0.68956	2.318000	0.78349	0.591000	0.81541	TGT		0.572	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		G	2977611	C	G	2977611	3	3	405	1	0	0	0	0	1	0	0	0	2647	478	17	4	2463	4	CARD11	7	2977611	Missense_Mutation	SNP	C	TCGA-BP-4994-01A-01D-1462-08		2977611	156161052	13	22329											
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502																																																1	Substitution - Missense(1)	ovary(1)						C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116	121	119		13,13,13	4	0	7	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	5/728,5/728,5/728	37382282	2,13004	2203	4300	6503	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.13G>A	7.37:g.37382282C>T	ENSP00000312185:p.Ala5Thr		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533964	0.64972	4.54E-4	0.0	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.44881	2.53;2.53;2.53;1.53;1.52;0.94;0.91	4.94	4.03	0.46877	.	0.200167	0.41823	D	0.000804	T	0.27594	0.0678	N	0.19112	0.55	0.44323	D	0.997201	B	0.14012	0.009	B	0.14578	0.011	T	0.04635	-1.0937	10	0.25106	T	0.35	.	12.5184	0.56046	0.1731:0.8269:0.0:0.0	.	5	Q92556	ELMO1_HUMAN	T	5	ENSP00000312185:A5T;ENSP00000406952:A5T;ENSP00000394458:A5T;ENSP00000406610:A5T;ENSP00000416090:A5T;ENSP00000391734:A5T;ENSP00000397857:A5T	ENSP00000312185:A5T	A	-	1	0	ELMO1	37348807	0.961000	0.32948	0.033000	0.17914	0.945000	0.59286	2.373000	0.44266	1.166000	0.42689	0.655000	0.94253	GCG		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		T	37382282	C	T	37382282	3	4	405	1	0	0	0	0	1	0	0	0	5067	768	27	1	2254	1	ELMO1	7	37382282	Missense_Mutation	SNP	C	TCGA-BP-4994-01A-01D-1462-08	34404671	37382282	121756381	14	22330											
ABCA1	19	broad.mit.edu	37	9	107581907	107581907	+	Silent	SNP	G	G	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr9:107581907G>A	ENST00000374736.3	-	22	3595	c.3201C>T	c.(3199-3201)tcC>tcT	p.S1067S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1067	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TTCCCCTGCGGGAGTAAGGGT	0.512																																																0													111	115	113					9																	107581907		2203	4300	6503	SO:0001819	synonymous_variant	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3201C>T	9.37:g.107581907G>A			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	CCDS6762.1																																																																																				0.512	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		A	107581907	G	A	107581907	2	1	405	1	0	0	0	0	0	0	0	1	28	1219	43	2		2	ABCA1	9	107581907	Silent	SNP	G	TCGA-BP-4994-01A-01D-1462-08		107581907	33631524	15	22331											
ATP6V1G1	9550	broad.mit.edu	37	9	117354865	117354865	+	Missense_Mutation	SNP	A	A	C	rs72752535	byFrequency	TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr9:117354865A>C	ENST00000374050.3	+	2	209	c.116A>C	c.(115-117)gAa>gCa	p.E39A	ATP6V1G1_ENST00000473413.1_3'UTR	NM_004888.3	NP_004879.1	O75348	VATG1_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1	39					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5						GCCAAAGAAGAAGCTCAGGCT	0.463													A|||	6	0.00119808	0.0	0.0014	5008	,	,		18424	0.001		0.003	False		,,,				2504	0.001															0								A	ALA/GLU	4,4390		0,4,2193	55	54	55		116	4.5	1	9	dbSNP_130	55	31,8559		0,31,4264	yes	missense	ATP6V1G1	NM_004888.3	107	0,35,6457	CC,CA,AA		0.3609,0.091,0.2696	benign	39/119	117354865	35,12949	2197	4295	6492	SO:0001583	missense	9550			AF038954	CCDS6807.1	9q33.1	2010-04-21	2006-01-13	2002-05-10	ENSG00000136888	ENSG00000136888		"ATPases / V-type"	864	protein-coding gene	gene with protein product		607296	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1"	ATP6J, ATP6G1		9653160	Standard	NM_004888		Approved	ATP6GL, Vma10, ATP6G, DKFZp547P234	uc004bjc.3	O75348	OTTHUMG00000021023	ENST00000374050.3:c.116A>C	9.37:g.117354865A>C	ENSP00000363162:p.Glu39Ala		Q6IB33	Missense_Mutation	SNP	ENST00000374050.3	37	CCDS6807.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	16.00	2.998943	0.54147	9.1E-4	0.003609	ENSG00000136888	ENST00000374050	T	0.55930	0.49	5.68	4.54	0.55810	.	0.148106	0.64402	N	0.000010	T	0.51568	0.1682	M	0.75085	2.285	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.50668	-0.8801	10	0.49607	T	0.09	.	10.1267	0.42654	0.9236:0.0:0.0764:0.0	.	39	O75348	VATG1_HUMAN	A	39	ENSP00000363162:E39A	ENSP00000363162:E39A	E	+	2	0	ATP6V1G1	116394686	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.709000	0.91379	1.091000	0.41335	0.528000	0.53228	GAA		0.463	ATP6V1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055454.1	NM_004888		C	117354865	A	C	117354865	3	2	405	1	0	0	0	0	1	0	0	0	1186	246	9	5	122	5	ATP6V1G1	9	117354865	Missense_Mutation	SNP	A	TCGA-BP-4994-01A-01D-1462-08	9772958	117354865	23858566	16	22332											
CACNA1B	774	broad.mit.edu	37	9	140809200	140809200	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr9:140809200C>A	ENST00000371372.1	+	5	862	c.717C>A	c.(715-717)atC>atA	p.I239I	CACNA1B_ENST00000371363.1_Silent_p.I239I|CACNA1B_ENST00000277551.2_Silent_p.I239I|CACNA1B_ENST00000371355.4_Silent_p.I239I|CACNA1B_ENST00000371357.1_Silent_p.I239I|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	239					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.I239I(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTTTGCCATCATTGGCCTGG	0.567																																																1	Substitution - coding silent(1)	lung(1)											115	113	113					9																	140809200		2132	4252	6384	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.717C>A	9.37:g.140809200C>A			B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																				0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		A	140809200	C	A	140809200	2	1	405	1	0	0	0	0	0	0	0	1	2541	816	29	4		4	CACNA1B	9	140809200	Silent	SNP	C	TCGA-BP-4994-01A-01D-1462-08	23454335	140809200	404231	17	22333											
SLK	9748	broad.mit.edu	37	10	105780244	105780244	+	Splice_Site	SNP	A	A	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr10:105780244A>G	ENST00000369755.3	+	17	3866		c.e17-1		SLK_ENST00000335753.4_Splice_Site	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase						apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTTATTTATAGTTTGCTGCA	0.333																																					NSCLC(111;540 1651 1927 4474 17706)											0													49	51	50					10																	105780244		2203	4300	6503	SO:0001630	splice_region_variant	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3322-1A>G	10.37:g.105780244A>G			D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Splice_Site	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.151182	0.78001	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.195	0.73081	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLK	105770234	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	9.339000	0.96797	1.981000	0.57761	0.528000	0.53228	.		0.333	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	Intron	G	105780244	A	G	105780244	5	3	405	1	0	0	0	0	0	0	1	0	14754	434	15	3	3386	3	SLK	10	105780244	Splice_Site	SNP	A	TCGA-BP-4994-01A-01D-1462-08		105780244	29754503	18	22334											
MOB2	81532	broad.mit.edu	37	11	1491713	1491713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr11:1491713C>A	ENST00000329957.6	-	5	685	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	135					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						CTGGGGAATTCTCTGCCTGGG	0.622																																																0													65	71	69					11																	1491713		2052	4183	6235	SO:0001587	stop_gained	81532				CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"MOB kinase activators"	24904	protein-coding gene	gene with protein product	"MOB2 Mps One Binder homolog (yeast)"	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.496G>T	11.37:g.1491713C>A	ENSP00000328694:p.Glu166*		B4DKP3|Q96M67	Nonsense_Mutation	SNP	ENST00000329957.6	37	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	C	37	6.183755	0.97357	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.05	4.05	0.47172	.	0.119013	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-19.9214	16.4005	0.83639	0.0:1.0:0.0:0.0	.	.	.	.	X	166	.	ENSP00000328694:E166X	E	-	1	0	AC091196.1	1448289	1.000000	0.71417	0.987000	0.45799	0.932000	0.56968	7.146000	0.77373	2.106000	0.64143	0.462000	0.41574	GAA		0.622	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		A	1491713	C	A	1491713	4	1	405	1	0	0	0	0	0	1	0	0	9683	922	32	4	314	4	MOB2	11	1491713	Nonsense_Mutation	SNP	C	TCGA-BP-4994-01A-01D-1462-08		1491713	133514803	19	22335											
SYT8	90019	broad.mit.edu	37	11	1858203	1858203	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr11:1858203C>A	ENST00000381968.3	+	8	977	c.849C>A	c.(847-849)gtC>gtA	p.V283V	TNNI2_ENST00000252898.7_5'Flank|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381906.1_5'Flank|TNNI2_ENST00000381911.1_5'Flank|SYT8_ENST00000341958.3_Silent_p.V269V	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	283	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACGTGAAGGTCCAGCTCATGC	0.617																																																0													75	87	83					11																	1858203		2202	4299	6501	SO:0001819	synonymous_variant	90019			AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.849C>A	11.37:g.1858203C>A			A6NFJ4|Q9NSV9	Silent	SNP	ENST00000381968.3	37	CCDS7726.2	.	.	.	.	.	.	.	.	.	.	c	7.638	0.680184	0.14907	.	.	ENSG00000149043	ENST00000381978	.	.	.	3.17	-1.26	0.09376	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28364	-1.0046	4	.	.	.	.	0.7611	0.01007	0.2535:0.1585:0.3472:0.2408	.	.	.	.	T	282	.	.	P	+	1	0	SYT8	1814779	0.000000	0.05858	0.997000	0.53966	0.759000	0.43091	-2.122000	0.01321	-0.145000	0.11294	0.491000	0.48974	CCA		0.617	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			A	1858203	C	A	1858203	2	1	405	1	0	0	0	0	0	0	0	1	15485	842	30	4		4	SYT8	11	1858203	Silent	SNP	C	TCGA-BP-4994-01A-01D-1462-08	366490	1858203	133148313	20	22336											
PLCZ1	89869	broad.mit.edu	37	12	18858244	18858244	+	Silent	SNP	A	A	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr12:18858244A>T	ENST00000266505.7	-	7	983	c.720T>A	c.(718-720)tcT>tcA	p.S240S	PLCZ1_ENST00000541695.1_Silent_p.S103S|PLCZ1_ENST00000538330.1_Intron|PLCZ1_ENST00000539875.1_Silent_p.S47S|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000435379.1_Silent_p.S45S|PLCZ1_ENST00000447925.2_Silent_p.S238S					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTGGGTAGTCAGATGTCTAAA	0.343																																																0													96	96	96					12																	18858244		2203	4300	6503	SO:0001819	synonymous_variant	89869			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.720T>A	12.37:g.18858244A>T				Silent	SNP	ENST00000266505.7	37	CCDS8680.1																																																																																				0.343	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123		T	18858244	A	T	18858244	2	4	405	1	0	0	0	0	0	0	0	1	12046	175	7	5		5	PLCZ1	12	18858244	Silent	SNP	A	TCGA-BP-4994-01A-01D-1462-08		18858244	114993651	21	22337											
ADAMTS20	80070	broad.mit.edu	37	12	43771210	43771210	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr12:43771210G>T	ENST00000389420.3	-	32	4952	c.4953C>A	c.(4951-4953)agC>agA	p.S1651R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1651	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATGCAAACAGCTGTTAATGC	0.408																																																0													102	92	96					12																	43771210		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4953C>A	12.37:g.43771210G>T	ENSP00000374071:p.Ser1651Arg		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	3.790	-0.043875	0.07452	.	.	ENSG00000173157	ENST00000389420	T	0.58940	0.3	4.99	2.05	0.26809	.	0.347848	0.24513	N	0.037873	T	0.41949	0.1181	L	0.51422	1.61	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.13388	-1.0511	10	0.17369	T	0.5	.	2.7268	0.05216	0.2266:0.1267:0.5178:0.1289	.	1651	P59510	ATS20_HUMAN	R	1651	ENSP00000374071:S1651R	ENSP00000374071:S1651R	S	-	3	2	ADAMTS20	42057477	0.005000	0.15991	0.687000	0.30102	0.744000	0.42396	-0.200000	0.09478	0.318000	0.23185	0.655000	0.94253	AGC		0.408	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		T	43771210	G	T	43771210	3	4	405	1	0	0	0	0	1	0	0	0	266	962	34	4	810	4	ADAMTS20	12	43771210	Missense_Mutation	SNP	G	TCGA-BP-4994-01A-01D-1462-08	24912966	43771210	90080685	22	22338											
PIP4K2C	79837	broad.mit.edu	37	12	57995053	57995053	+	Silent	SNP	C	C	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr12:57995053C>T	ENST00000354947.5	+	9	1123	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	PIP4K2C_ENST00000550465.1_Silent_p.F351F|PIP4K2C_ENST00000422156.3_Silent_p.F321F|PIP4K2C_ENST00000540759.2_Silent_p.F369F			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	369	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGTCTACTTCATGGGCCTCA	0.468																																																0													82	84	83					12																	57995053		2203	4300	6503	SO:0001819	synonymous_variant	79837			AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.1107C>T	12.37:g.57995053C>T			B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	CCDS8946.1																																																																																				0.468	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		T	57995053	C	T	57995053	2	4	405	1	0	0	0	0	0	0	0	1	11940	825	29	2		2	PIP4K2C	12	57995053	Silent	SNP	C	TCGA-BP-4994-01A-01D-1462-08	14223843	57995053	75856842	23	22339											
NIN	51199	broad.mit.edu	37	14	51237587	51237587	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr14:51237587C>A	ENST00000382041.3	-	11	1432	c.1242G>T	c.(1240-1242)cgG>cgT	p.R414R	NIN_ENST00000453196.1_Silent_p.R414R|NIN_ENST00000389868.3_Silent_p.R414R|NIN_ENST00000324330.9_Silent_p.R414R|NIN_ENST00000245441.5_Silent_p.R414R|NIN_ENST00000382043.4_Silent_p.R414R|NIN_ENST00000530997.2_Silent_p.R414R	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	414					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTACTCATTCCGCCGCTCTA	0.592			T	PDGFRB	MPD																																		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													69	58	62					14																	51237587		2203	4300	6503	SO:0001819	synonymous_variant	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1242G>T	14.37:g.51237587C>A			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	CCDS32079.1																																																																																				0.592	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		A	51237587	C	A	51237587	2	1	405	1	0	0	0	0	0	0	0	1	10419	842	30	4		4	NIN	14	51237587	Silent	SNP	C	TCGA-BP-4994-01A-01D-1462-08		51237587	56111953	24	22340											
ZKSCAN2	342357	broad.mit.edu	37	16	25268247	25268247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr16:25268247C>A	ENST00000328086.7	-	1	1005	c.202G>T	c.(202-204)Gaa>Taa	p.E68*		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	68	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CAGCAAAGTTCCCAGAGTTTA	0.483											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													60	63	62					16																	25268247		2197	4300	6497	SO:0001587	stop_gained	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.202G>T	16.37:g.25268247C>A	ENSP00000331626:p.Glu68*	777	A1L3B4|Q6ZN77	Nonsense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	41	8.949625	0.99014	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-21.2272	14.0873	0.64964	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000331626:E68X	E	-	1	0	ZKSCAN2	25175748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.698000	0.47068	2.693000	0.91896	0.650000	0.86243	GAA		0.483	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		A	25268247	C	A	25268247	4	1	405	1	0	0	0	0	0	1	0	0	17692	864	30	4	2729	4	ZKSCAN2	16	25268247	Nonsense_Mutation	SNP	C	TCGA-BP-4994-01A-01D-1462-08		25268247	65086506	25	22341											
CDH8	1006	broad.mit.edu	37	16	61935267	61935267	+	Silent	SNP	T	T	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr16:61935267T>G	ENST00000577390.1	-	3	1317	c.363A>C	c.(361-363)atA>atC	p.I121I	CDH8_ENST00000299345.6_Silent_p.I121I|CDH8_ENST00000577730.1_Silent_p.I121I|CDH8_ENST00000584337.1_Silent_p.I121I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAAGTCTTTTTATAGCATGGA	0.428																																																0													121	119	120					16																	61935267		2203	4300	6503	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.363A>C	16.37:g.61935267T>G			B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		G	61935267	T	G	61935267	2	3	405	1	0	0	0	0	0	0	0	1	3118	1744	61	5		5	CDH8	16	61935267	Silent	SNP	T	TCGA-BP-4994-01A-01D-1462-08	36667020	61935267	28419486	26	22342											
PLCG2	5336	broad.mit.edu	37	16	81944242	81944242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr16:81944242delC	ENST00000359376.3	+	18	2065	c.1851delC	c.(1849-1851)tacfs	p.Y617fs		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	617	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCAGCACTACCGCGAGACGC	0.627																																																0													168	184	179					16																	81944242		2159	4267	6426	SO:0001589	frameshift_variant	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1851delC	16.37:g.81944242delC	ENSP00000352336:p.Tyr617fs		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Frame_Shift_Del	DEL	ENST00000359376.3	37	CCDS42204.1																																																																																				0.627	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			-	81944242	C	-	81944242	7	5	405	1	0	1	0	1	0	0	0	0	12038	518	18	0	1917	0	PLCG2	16	81944242	Frame_Shift_Del	DEL	C	TCGA-BP-4994-01A-01D-1462-08	20008975	81944242	8410511	27	22343											
PFAS	5198	broad.mit.edu	37	17	8169634	8169634	+	Silent	SNP	C	C	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr17:8169634C>T	ENST00000314666.6	+	22	2917	c.2784C>T	c.(2782-2784)tgC>tgT	p.C928C	PFAS_ENST00000545834.1_Silent_p.C504C	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	928					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CTGGAAATTGCGGGCTACAGG	0.597																																																0													118	96	104					17																	8169634		2203	4300	6503	SO:0001819	synonymous_variant	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2784C>T	17.37:g.8169634C>T			A6H8V8	Silent	SNP	ENST00000314666.6	37	CCDS11136.1																																																																																				0.597	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			T	8169634	C	T	8169634	2	4	405	1	0	0	0	0	0	0	0	1	11756	776	27	1		1	PFAS	17	8169634	Silent	SNP	C	TCGA-BP-4994-01A-01D-1462-08		8169634	73025576	28	22344											
TBCD	6904	broad.mit.edu	37	17	80772758	80772758	+	Silent	SNP	G	G	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr17:80772758G>A	ENST00000355528.4	+	13	1396	c.1266G>A	c.(1264-1266)gcG>gcA	p.A422A	TBCD_ENST00000397466.2_Silent_p.A36A|TBCD_ENST00000539345.2_Silent_p.A422A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	422					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GATGTCTGGCGCTGGCAGAGC	0.612																																																0													66	72	70					17																	80772758		2161	4267	6428	SO:0001819	synonymous_variant	6904			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1266G>A	17.37:g.80772758G>A			O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	CCDS45818.1																																																																																				0.612	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		A	80772758	G	A	80772758	2	1	405	1	0	0	0	0	0	0	0	1	15638	1074	38	1		1	TBCD	17	80772758	Silent	SNP	G	TCGA-BP-4994-01A-01D-1462-08	72603124	80772758	422452	29	22345											
POLI	11201	broad.mit.edu	37	18	51820612	51820612	+	Silent	SNP	A	A	G	rs201355805	byFrequency	TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr18:51820612A>G	ENST00000579534.1	+	10	2141	c.1998A>G	c.(1996-1998)caA>caG	p.Q666Q	POLI_ENST00000217800.5_Silent_p.Q540Q|POLI_ENST00000579434.1_Silent_p.Q563Q|POLI_ENST00000406285.3_Silent_p.Q587Q	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	666					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGAGTGAGCAACTTTTCTCCA	0.403								DNA polymerases (catalytic subunits)					A|||	5	0.000998403	0.0	0.0	5008	,	,		18022	0.005		0.0	False		,,,				2504	0.0															0													67	67	67					18																	51820612		2203	4300	6503	SO:0001819	synonymous_variant	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1998A>G	18.37:g.51820612A>G			Q8N590|Q9H0S1|Q9NYH6	Silent	SNP	ENST00000579534.1	37	CCDS11954.2																																																																																				0.403	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		G	51820612	A	G	51820612	2	3	405	1	0	0	0	0	0	0	0	1	12205	40	2	3		3	POLI	18	51820612	Silent	SNP	A	TCGA-BP-4994-01A-01D-1462-08		51820612	26256636	30	22346											
TSHZ1	10194	broad.mit.edu	37	18	72999255	72999255	+	Silent	SNP	G	G	A	rs145239521		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr18:72999255G>A	ENST00000580243.1	+	2	2241	c.1893G>A	c.(1891-1893)ccG>ccA	p.P631P	TSHZ1_ENST00000322038.5_Silent_p.P586P			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	631					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGCCCCCACCGCACAAGAGCA	0.632																																																0								G		1,4401	2.1+/-5.4	0,1,2200	62	52	56		1758	-4.8	1	18	dbSNP_134	56	0,8590		0,0,4295	no	coding-synonymous	TSHZ1	NM_005786.4		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		586/1033	72999255	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1893G>A	18.37:g.72999255G>A			O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37																																																																																					0.632	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		A	72999255	G	A	72999255	2	1	405	1	0	0	0	0	0	0	0	1	16628	1074	38	1		1	TSHZ1	18	72999255	Silent	SNP	G	TCGA-BP-4994-01A-01D-1462-08	21178643	72999255	5077993	31	22347											
FBN3	84467	broad.mit.edu	37	19	8188389	8188389	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:8188389G>T	ENST00000600128.1	-	24	3455	c.3041C>A	c.(3040-3042)gCg>gAg	p.A1014E	FBN3_ENST00000270509.2_Missense_Mutation_p.A1014E|FBN3_ENST00000601739.1_Missense_Mutation_p.A1014E			Q75N90	FBN3_HUMAN	fibrillin 3	1014	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGCCCCCCGCACAGGCGCA	0.612																																																0													57	56	56					19																	8188389		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3041C>A	19.37:g.8188389G>T	ENSP00000470498:p.Ala1014Glu		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	3.829	-0.036103	0.07497	.	.	ENSG00000142449	ENST00000270509	D	0.91577	-2.87	3.48	0.692	0.18050	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.551331	0.18436	U	0.141278	T	0.71476	0.3344	N	0.03999	-0.3	0.19575	N	0.999968	B	0.30526	0.283	B	0.33690	0.168	T	0.64394	-0.6418	10	0.06625	T	0.88	.	2.3769	0.04344	0.1283:0.3474:0.3854:0.1389	.	1014	Q75N90	FBN3_HUMAN	E	1014	ENSP00000270509:A1014E	ENSP00000270509:A1014E	A	-	2	0	FBN3	8094389	0.000000	0.05858	0.088000	0.20740	0.048000	0.14542	0.693000	0.25497	0.591000	0.29711	-0.336000	0.08194	GCG		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		T	8188389	G	T	8188389	3	4	405	1	0	0	0	0	1	0	0	0	5706	1087	38	4	5552	4	FBN3	19	8188389	Missense_Mutation	SNP	G	TCGA-BP-4994-01A-01D-1462-08		8188389	50940594	32	22348											
ZNF45	7596	broad.mit.edu	37	19	44417765	44417765	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:44417765C>A	ENST00000269973.5	-	10	2913	c.1823G>T	c.(1822-1824)gGa>gTa	p.G608V	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.G608V	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	608					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGGTCTCTCTCCTGTGTGGAC	0.488																																																0													194	178	183					19																	44417765		2203	4300	6503	SO:0001583	missense	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1823G>T	19.37:g.44417765C>A	ENSP00000269973:p.Gly608Val		P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825241	0.71143	.	.	ENSG00000124459	ENST00000269973	T	0.23552	1.9	3.45	3.45	0.39498	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51958	0.1705	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60717	-0.7208	9	0.72032	D	0.01	-10.0796	14.181	0.65574	0.0:1.0:0.0:0.0	.	608	Q02386	ZNF45_HUMAN	V	608	ENSP00000269973:G608V	ENSP00000269973:G608V	G	-	2	0	ZNF45	49109605	0.911000	0.30947	0.988000	0.46212	0.992000	0.81027	2.819000	0.48049	1.929000	0.55896	0.455000	0.32223	GGA		0.488	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		A	44417765	C	A	44417765	3	1	405	1	0	0	0	0	1	0	0	0	17926	855	30	4	229	4	ZNF45	19	44417765	Missense_Mutation	SNP	C	TCGA-BP-4994-01A-01D-1462-08	36229376	44417765	14711218	33	22349											
ZNF766	90321	broad.mit.edu	37	19	52786650	52786650	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:52786650C>G	ENST00000439461.1	+	3	301	c.258C>G	c.(256-258)atC>atG	p.I86M	ZNF766_ENST00000600821.1_Missense_Mutation_p.I81M|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Missense_Mutation_p.I101M|ZNF766_ENST00000599581.1_Missense_Mutation_p.I86M|ZNF766_ENST00000359102.4_Missense_Mutation_p.I101M|MIR643_ENST00000385267.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GGGAAGGTATCAAAGATATCA	0.418																																																0													65	62	63					19																	52786650		1923	4157	6080	SO:0001583	missense	90321			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.258C>G	19.37:g.52786650C>G	ENSP00000409652:p.Ile86Met		B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	C	2.072	-0.412757	0.04799	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.06768	3.26;3.5	2.11	-1.78	0.07957	.	.	.	.	.	T	0.05227	0.0139	N	0.17082	0.46	0.09310	N	1	B;B;B	0.19583	0.037;0.022;0.022	B;B;B	0.14023	0.004;0.01;0.001	T	0.38243	-0.9670	9	0.45353	T	0.12	.	9.7262	0.40333	0.0:0.3555:0.6445:0.0	.	101;101;86	G3XAE0;B3KUR0;Q5HY98	.;.;ZN766_HUMAN	M	86;101	ENSP00000409652:I86M;ENSP00000352005:I101M	ENSP00000352005:I101M	I	+	3	3	ZNF766	57478462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.434000	0.06939	-0.322000	0.08615	-0.913000	0.02753	ATC		0.418	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		G	52786650	C	G	52786650	3	3	405	1	0	0	0	0	1	0	0	0	18145	816	29	4	268	4	ZNF766	19	52786650	Missense_Mutation	SNP	C	TCGA-BP-4994-01A-01D-1462-08	8368885	52786650	6342333	34	22350											
LILRB2	10288	broad.mit.edu	37	19	54783387	54783387	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:54783387C>A	ENST00000391749.4	-	5	742	c.471G>T	c.(469-471)aaG>aaT	p.K157N	LILRB2_ENST00000391746.1_Missense_Mutation_p.K157N|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Missense_Mutation_p.K41N|LILRB2_ENST00000314446.5_Missense_Mutation_p.K157N|LILRB2_ENST00000391748.1_Missense_Mutation_p.K157N|MIR4752_ENST00000579672.1_RNA	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	157	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTTCTCCTTCCTTACACAGAA	0.622																																																0													112	108	110					19																	54783387		2203	4300	6503	SO:0001583	missense	10288			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.471G>T	19.37:g.54783387C>A	ENSP00000375629:p.Lys157Asn		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182748	0.38511	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.01084	5.36;5.36;5.36;5.36;5.36	2.41	-2.24	0.06909	Immunoglobulin-like fold (1);	0.973573	0.08404	N	0.951022	T	0.08179	0.0204	H	0.96111	3.77	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.77557	0.976;0.99;0.975	T	0.11470	-1.0586	10	0.72032	D	0.01	.	2.768	0.05325	0.2169:0.4924:0.0:0.2907	.	157;174;157	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	N	157;157;157;157;41	ENSP00000375628:K157N;ENSP00000319960:K157N;ENSP00000375629:K157N;ENSP00000375626:K157N;ENSP00000410117:K41N	ENSP00000319960:K157N	K	-	3	2	LILRB2	59475199	0.001000	0.12720	0.002000	0.10522	0.056000	0.15407	-0.088000	0.11198	-0.476000	0.06842	0.289000	0.19496	AAG		0.622	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			A	54783387	C	A	54783387	3	1	405	1	0	0	0	0	1	0	0	0	8793	680	24	4	1365	4	LILRB2	19	54783387	Missense_Mutation	SNP	C	TCGA-BP-4994-01A-01D-1462-08	1996737	54783387	4345596	35	22351											
BRSK1	84446	broad.mit.edu	37	19	55816167	55816167	+	Silent	SNP	G	G	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:55816167G>T	ENST00000309383.1	+	14	1873	c.1596G>T	c.(1594-1596)ccG>ccT	p.P532P	BRSK1_ENST00000326848.7_Silent_p.P227P|BRSK1_ENST00000590333.1_Silent_p.P548P|BRSK1_ENST00000588584.1_3'UTR	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	532	Pro-rich.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCGGGACCCCGGGGACAACAC	0.751																																																0													4	5	5					19																	55816167		2056	3998	6054	SO:0001819	synonymous_variant	84446			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1596G>T	19.37:g.55816167G>T			F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	CCDS12921.1																																																																																				0.751	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		T	55816167	G	T	55816167	2	4	405	1	0	0	0	0	0	0	0	1	1525	1103	39	4		4	BRSK1	19	55816167	Silent	SNP	G	TCGA-BP-4994-01A-01D-1462-08	1032780	55816167	3312816	36	22352											
CHD6	84181	broad.mit.edu	37	20	40080534	40080535	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr20:40080534_40080535delTT	ENST00000373233.3	-	22	3631_3632	c.3454_3455delAA	c.(3454-3456)aagfs	p.K1152fs	CHD6_ENST00000309279.7_Frame_Shift_Del_p.K635fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1152					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATGAAACTCTTGATCTTCTCG	0.52																																																0																																										SO:0001589	frameshift_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3454_3455delAA	20.37:g.40080534_40080535delTT	ENSP00000362330:p.Lys1152fs		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Frame_Shift_Del	DEL	ENST00000373233.3	37	CCDS13317.1																																																																																				0.52	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			-	40080535	TT	-	40080534	7	5	405	1	0	1	0	1	0	0	0	0	3331	1609	56	0	4756	0	CHD6	20	40080534	Frame_Shift_Del	DEL	TT	TCGA-BP-4994-01A-01D-1462-08		40080534	22944986	37	22353											
BTG3	10950	broad.mit.edu	37	21	18977201	18977201	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr21:18977201C>A	ENST00000348354.6	-	3	544	c.288G>T	c.(286-288)gtG>gtT	p.V96V	BTG3_ENST00000339775.6_Silent_p.V96V	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	96					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CACATGGGTCCACCCAGAGAG	0.468																																																0													101	90	94					21																	18977201		2203	4300	6503	SO:0001819	synonymous_variant	10950			D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.288G>T	21.37:g.18977201C>A			D3DSC4|Q53XV1|Q96ET7	Silent	SNP	ENST00000348354.6	37	CCDS13569.1																																																																																				0.468	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		A	18977201	C	A	18977201	2	1	405	1	0	0	0	0	0	0	0	1	1557	581	21	4		4	BTG3	21	18977201	Silent	SNP	C	TCGA-BP-4994-01A-01D-1462-08		18977201	29152694	38	22354											
ATP7A	538	broad.mit.edu	37	X	77244942	77244942	+	Missense_Mutation	SNP	A	A	G	rs368147403		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chrX:77244942A>G	ENST00000341514.6	+	4	979	c.824A>G	c.(823-825)aAt>aGt	p.N275S	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.N275S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	275					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCATATACCAATGATTCAACA	0.388																																																0								A	SER/ASN	1,3834		0,1,1631,571	155	137	143		824	-8.9	0	X		143	0,6723		0,0,2427,1869	no	missense	ATP7A	NM_000052.4	46	0,1,4058,2440	GG,GA,AA,A		0.0,0.0261,0.0095	benign	275/1501	77244942	1,10557	2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.824A>G	X.37:g.77244942A>G	ENSP00000345728:p.Asn275Ser		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.786007	0.00078	2.61E-4	0.0	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.87029	-2.2;-2.2	5.12	-8.92	0.00774	Heavy metal-associated domain, HMA (1);	2.302070	0.01701	N	0.027171	T	0.68091	0.2963	N	0.04245	-0.25	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.64736	-0.6337	10	0.07990	T	0.79	-19.7912	10.8456	0.46741	0.24:0.0854:0.5896:0.085	.	275;285	Q04656;Q59HD1	ATP7A_HUMAN;.	S	275;275;285	ENSP00000343026:N275S;ENSP00000345728:N275S	ENSP00000345728:N275S	N	+	2	0	ATP7A	77131598	0.000000	0.05858	0.002000	0.10522	0.228000	0.25075	-0.481000	0.06552	-2.452000	0.00542	-1.051000	0.02340	AAT		0.388	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		G	77244942	A	G	77244942	3	3	405	1	0	0	0	0	1	0	0	0	1190	101	4	3	834	3	ATP7A	23	77244942	Missense_Mutation	SNP	A	TCGA-BP-4994-01A-01D-1462-08		77244942	78025618	39	22355											
LRP8	7804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53741419	53741419	+	Missense_Mutation	SNP	C	C	T	rs149347479		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:53741419C>T	ENST00000306052.6	-	6	991	c.890G>A	c.(889-891)gGc>gAc	p.G297D	LRP8_ENST00000354412.3_Missense_Mutation_p.G168D|LRP8_ENST00000347547.2_Intron|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.G297D	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	297					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.G297D(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ACGGCAGGTGCCCAGTGCTGC	0.592																																																1	Substitution - Missense(1)	kidney(1)						C	ASP/GLY,ASP/GLY,ASP/GLY,	1,4405	2.1+/-5.4	0,1,2202	100	71	81		890,890,503,	1.9	0	1	dbSNP_134	81	0,8600		0,0,4300	no	missense,missense,missense,intron	LRP8	NM_001018054.2,NM_004631.4,NM_017522.4,NM_033300.3	94,94,94,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,	297/905,297/964,168/701,	53741419	1,13005	2203	4300	6503	SO:0001583	missense	7804			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.890G>A	1.37:g.53741419C>T	ENSP00000303634:p.Gly297Asp		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	CCDS578.1	.	.	.	.	.	.	.	.	.	.	C	9.130	1.011267	0.19277	2.27E-4	0.0	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000354412	D;D;D	0.91295	-2.82;-2.82;-2.82	4.05	1.89	0.25635	.	.	.	.	.	D	0.88403	0.6427	L	0.49126	1.545	0.25374	N	0.988676	P;P;B	0.48640	0.843;0.913;0.402	B;P;B	0.52109	0.362;0.69;0.425	T	0.77327	-0.2629	9	0.12430	T	0.62	.	5.9146	0.19048	0.3075:0.4196:0.2729:0.0	.	168;297;297	Q14114-2;Q14114-3;Q14114	.;.;LRP8_HUMAN	D	297;297;168	ENSP00000303634:G297D;ENSP00000360509:G297D;ENSP00000346391:G168D	ENSP00000303634:G297D	G	-	2	0	LRP8	53514007	0.019000	0.18553	0.019000	0.16419	0.934000	0.57294	1.298000	0.33412	0.876000	0.35872	0.462000	0.41574	GGC		0.592	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		T	53741419	C	T	53741419	3	4	406	1	0	0	0	0	1	0	0	0	8965	739	26	2	2057	2	LRP8	1	53741419	Missense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08		53741419	195509202	1	22356											
PTGFR	5737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78958841	78958841	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:78958841C>G	ENST00000370757.3	+	2	650	c.413C>G	c.(412-414)aCa>aGa	p.T138R	PTGFR_ENST00000370756.3_Missense_Mutation_p.T138R|PTGFR_ENST00000370758.1_Missense_Mutation_p.T138R	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	138					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.T138R(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	ATTGGAGTCACAAAACCAATA	0.408																																																2	Substitution - Missense(2)	kidney(2)											161	154	156					1																	78958841		2203	4300	6503	SO:0001583	missense	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.413C>G	1.37:g.78958841C>G	ENSP00000359793:p.Thr138Arg		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874686	0.72180	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.37752	1.18;1.18;1.18	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.35542	1.07	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.13845	-1.0494	10	0.41790	T	0.15	-16.8512	20.5471	0.99284	0.0:1.0:0.0:0.0	.	138;138	P43088;P43088-2	PF2R_HUMAN;.	R	138	ENSP00000359794:T138R;ENSP00000359793:T138R;ENSP00000359792:T138R	ENSP00000359792:T138R	T	+	2	0	PTGFR	78731429	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.558000	0.60789	2.941000	0.99782	0.655000	0.94253	ACA		0.408	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		G	78958841	C	G	78958841	3	3	406	1	0	0	0	0	1	0	0	0	12755	478	17	4	415	4	PTGFR	1	78958841	Missense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08	25217422	78958841	170291780	2	22357											
UBE2Q1	55585	broad.mit.edu;ucsc.edu	37	1	154522941	154522941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:154522941C>T	ENST00000292211.4	-	13	1321	c.1242G>A	c.(1240-1242)tgG>tgA	p.W414*	UBE2Q1_ENST00000497453.1_5'Flank	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	414					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.W414*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGTGTGTACCAGCCTGCAA	0.537																																																1	Substitution - Nonsense(1)	kidney(1)											227	198	208					1																	154522941		2203	4300	6503	SO:0001587	stop_gained	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1242G>A	1.37:g.154522941C>T	ENSP00000292211:p.Trp414*		B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Nonsense_Mutation	SNP	ENST00000292211.4	37	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539018	0.96474	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.31	5.31	0.75309	.	0.236509	0.41500	D	0.000871	.	.	.	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2075	17.7137	0.88330	0.0:1.0:0.0:0.0	.	.	.	.	X	414	.	ENSP00000292211:W414X	W	-	3	0	UBE2Q1	152789565	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.406000	0.80017	2.759000	0.94783	0.561000	0.74099	TGG		0.537	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		T	154522941	C	T	154522941	4	4	406	1	0	0	0	0	0	1	0	0	16874	508	18	2	30	2	UBE2Q1	1	154522941	Nonsense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08	75564100	154522941	94727680	3	22358											
LY9	4063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160769615	160769615	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:160769615C>G	ENST00000263285.6	+	2	227	c.197C>G	c.(196-198)cCc>cGc	p.P66R	LY9_ENST00000341032.4_Missense_Mutation_p.P66R|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368037.5_Missense_Mutation_p.P66R|LY9_ENST00000368041.2_Missense_Mutation_p.P26R|LY9_ENST00000368039.2_Missense_Mutation_p.P66R|LY9_ENST00000392203.4_Missense_Mutation_p.P66R			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	66	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P66R(2)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGACTCTCCCCCTAAACATC	0.498																																																2	Substitution - Missense(2)	kidney(2)											83	81	82					1																	160769615		2203	4300	6503	SO:0001583	missense	4063			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.197C>G	1.37:g.160769615C>G	ENSP00000263285:p.Pro66Arg		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490155	0.44249	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037	T;T;T	0.67345	1.96;1.96;-0.26	4.04	2.11	0.27256	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.786440	0.02870	N	0.131428	T	0.71719	0.3373	M	0.86651	2.83	0.19300	N	0.999973	D;P;D;D;D;D	0.59357	0.97;0.845;0.985;0.982;0.969;0.985	P;B;P;P;P;P	0.61070	0.859;0.367;0.832;0.815;0.658;0.883	T	0.35301	-0.9794	10	0.87932	D	0	0.0546	4.8695	0.13625	0.2103:0.6774:0.0:0.1122	.	66;26;66;66;66;66	B4E0J5;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;LY9_HUMAN;.	R	66;66;66;66;66;26;26	ENSP00000342921:P66R;ENSP00000263285:P66R;ENSP00000357018:P66R	ENSP00000263285:P66R	P	+	2	0	LY9	159036239	0.008000	0.16893	0.011000	0.14972	0.071000	0.16799	1.131000	0.31406	0.445000	0.26639	0.563000	0.77884	CCC		0.498	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		G	160769615	C	G	160769615	3	3	406	1	0	0	0	0	1	0	0	0	9103	623	22	4	203	4	LY9	1	160769615	Missense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08	6246674	160769615	88481006	4	22359											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201009799	201009799	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:201009799A>T	ENST00000362061.3	-	42	5403	c.5177T>A	c.(5176-5178)cTg>cAg	p.L1726Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1707Q|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1726					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L1726Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTGGGTCAGCAGTCCCTT	0.617																																																1	Substitution - Missense(1)	kidney(1)											56	51	53					1																	201009799		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5177T>A	1.37:g.201009799A>T	ENSP00000355192:p.Leu1726Gln		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.630153	0.28978	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96619	-4.07;-4.01	4.79	-5.3	0.02738	.	4.183880	0.00397	N	0.000042	D	0.87669	0.6235	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81077	-0.1096	10	0.27785	T	0.31	.	1.3313	0.02136	0.3332:0.2596:0.2793:0.1278	.	1726	Q13698	CAC1S_HUMAN	Q	1726;1707	ENSP00000355192:L1726Q;ENSP00000356307:L1707Q	ENSP00000355192:L1726Q	L	-	2	0	CACNA1S	199276422	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.268000	0.08607	-0.877000	0.04012	0.477000	0.44152	CTG		0.617	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201009799	A	T	201009799	3	4	406	1	0	0	0	0	1	0	0	0	2549	188	7	5	456	5	CACNA1S	1	201009799	Missense_Mutation	SNP	A	TCGA-BP-4995-01A-01D-1462-08	40240184	201009799	48240822	5	22360											
CDC42BPA	8476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227227835	227227835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:227227835C>A	ENST00000366769.3	-	23	4382	c.3091G>T	c.(3091-3093)Gaa>Taa	p.E1031*	CDC42BPA_ENST00000366766.2_Nonsense_Mutation_p.E1066*|CDC42BPA_ENST00000366767.3_Nonsense_Mutation_p.E950*|CDC42BPA_ENST00000334218.5_Nonsense_Mutation_p.E1031*|CDC42BPA_ENST00000535525.1_Nonsense_Mutation_p.E1011*|CDC42BPA_ENST00000366764.2_Nonsense_Mutation_p.E1003*|CDC42BPA_ENST00000366765.3_Nonsense_Mutation_p.E1044*	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.E1066*(1)|p.E950*(1)|p.E1031*(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTCTTACCTTCACATGAACAG	0.338																																																3	Substitution - Nonsense(3)	kidney(3)											105	99	101					1																	227227835		2203	4300	6503	SO:0001587	stop_gained	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3091G>T	1.37:g.227227835C>A	ENSP00000355731:p.Glu1031*			Nonsense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.146392|5.146392	0.94603|0.94603	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000441725	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.59425|.	D|.	0.04|.	.|.	19.622|19.622	0.95660|0.95660	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1031;950;1031;1066;1003;346;1011;1044|233;359;255	.|.	ENSP00000335341:E1031X|.	E|X	-|-	1|2	0|2	CDC42BPA|CDC42BPA	225294458|225294458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.676000|0.676000	0.39594|0.39594	7.667000|7.667000	0.83888|0.83888	2.702000|2.702000	0.92279|0.92279	0.591000|0.591000	0.81541|0.81541	GAA|TGA		0.338	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		A	227227835	C	A	227227835	4	1	406	1	0	0	0	0	0	1	0	0	3074	835	29	4	2124	4	CDC42BPA	1	227227835	Nonsense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08	26218036	227227835	22022786	6	22361											
ACTN2	88	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	236924371	236924371	+	Silent	SNP	C	C	A	rs202204431		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:236924371C>A	ENST00000366578.4	+	20	2590	c.2424C>A	c.(2422-2424)acC>acA	p.T808T	ACTN2_ENST00000546208.1_Silent_p.T302T|ACTN2_ENST00000542672.1_Silent_p.T808T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	808	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.T808T(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGCAAGGCACCGTCACCTTCC	0.542																																																1	Substitution - coding silent(1)	kidney(1)											176	144	155					1																	236924371		2203	4300	6503	SO:0001819	synonymous_variant	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2424C>A	1.37:g.236924371C>A			B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	CCDS1613.1																																																																																				0.542	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		A	236924371	C	A	236924371	2	1	406	1	0	0	0	0	0	0	0	1	205	639	23	4		4	ACTN2	1	236924371	Silent	SNP	C	TCGA-BP-4995-01A-01D-1462-08	9696536	236924371	12326250	7	22362											
RSAD2	91543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	7023597	7023597	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr2:7023597C>T	ENST00000382040.3	+	2	578	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	RSAD2_ENST00000541728.1_Missense_Mutation_p.R41W	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.R148W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGTAGAGTTGCGGCTGCCCAG	0.512																																																1	Substitution - Missense(1)	kidney(1)											109	102	104					2																	7023597		2203	4300	6503	SO:0001583	missense	91543			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.442C>T	2.37:g.7023597C>T	ENSP00000371471:p.Arg148Trp			Missense_Mutation	SNP	ENST00000382040.3	37	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633729	0.47049	.	.	ENSG00000134321	ENST00000442639;ENST00000382040;ENST00000541728	D;D;D	0.91996	-2.95;-2.95;-2.95	6.04	-7.55	0.01327	Elongator protein 3/MiaB/NifB (1);Radical SAM (1);	2.567660	0.01184	N	0.007165	D	0.85902	0.5805	N	0.19112	0.55	0.09310	N	1	D	0.61080	0.989	P	0.49301	0.606	T	0.79811	-0.1646	10	0.36615	T	0.2	0.4973	5.3499	0.16030	0.2756:0.1198:0.4739:0.1307	.	148	Q8WXG1	RSAD2_HUMAN	W	80;148;41	ENSP00000406427:R80W;ENSP00000371471:R148W;ENSP00000440859:R41W	ENSP00000371471:R148W	R	+	1	2	RSAD2	6941048	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.377000	0.20552	-1.111000	0.02988	0.563000	0.77884	CGG		0.512	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		T	7023597	C	T	7023597	3	4	406	1	0	0	0	0	1	0	0	0	13701	759	27	1	448	1	RSAD2	2	7023597	Missense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08		7023597	236175776	8	22363											
UGGT1	56886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128927889	128927889	+	Silent	SNP	G	G	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr2:128927889G>T	ENST00000259253.6	+	27	2996	c.2949G>T	c.(2947-2949)ggG>ggT	p.G983G	UGGT1_ENST00000375990.3_Silent_p.G959G	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	983					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.G983G(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGAAGGAAGGGGAGACATACT	0.443																																																1	Substitution - coding silent(1)	kidney(1)											154	123	133					2																	128927889		2203	4300	6503	SO:0001819	synonymous_variant	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2949G>T	2.37:g.128927889G>T			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	CCDS2154.1																																																																																				0.443	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		T	128927889	G	T	128927889	2	4	406	1	0	0	0	0	0	0	0	1	16946	1219	43	4		4	UGGT1	2	128927889	Silent	SNP	G	TCGA-BP-4995-01A-01D-1462-08	121904292	128927889	114271484	9	22364											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179454614	179454614	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr2:179454614T>A	ENST00000591111.1	-	254	57139	c.56915A>T	c.(56914-56916)cAg>cTg	p.Q18972L	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q20613L|TTN_ENST00000342992.6_Missense_Mutation_p.Q18045L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q11548L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q11740L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q11673L|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18972	Fibronectin type-III 37. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q18043L(1)|p.Q11548L(1)|p.Q11673L(1)|p.Q11740L(1)|p.Q18045L(1)		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)			CCAGCCTTTCTGGTTTGGTTT	0.373																																																5	Substitution - Missense(5)	kidney(5)											142	128	132					2																	179454614		1847	4097	5944	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56915A>T	2.37:g.179454614T>A	ENSP00000465570:p.Gln18972Leu		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	9.784	1.176187	0.21704	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.1	4.94	0.65067	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38532	0.1044	N	0.16266	0.395	0.46954	D	0.999261	B;B;B;B	0.20671	0.047;0.047;0.047;0.047	B;B;B;B	0.21917	0.037;0.037;0.037;0.037	T	0.22977	-1.0201	9	0.87932	D	0	.	12.3151	0.54951	0.0:0.0658:0.0:0.9342	.	11548;11673;11740;18972	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	18045;11548;11740;11673;11546	ENSP00000343764:Q18045L;ENSP00000434586:Q11548L;ENSP00000340554:Q11740L;ENSP00000352154:Q11673L	ENSP00000340554:Q11740L	Q	-	2	0	TTN	179162860	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.131000	0.64751	1.123000	0.41961	0.528000	0.53228	CAG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179454614	T	A	179454614	3	1	406	1	0	0	0	0	1	0	0	0	16740	1580	55	5	46377	5	TTN	2	179454614	Missense_Mutation	SNP	T	TCGA-BP-4995-01A-01D-1462-08	50526725	179454614	63744759	10	22365											
PIKFYVE	200576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	209169642	209169642	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr2:209169642C>A	ENST00000264380.4	+	12	1699	c.1541C>A	c.(1540-1542)tCt>tAt	p.S514Y	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S514Y|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S428Y|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S417Y	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	514					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.S514Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCAGCCGCTTCTATCAGCCTG	0.517																																																1	Substitution - Missense(1)	kidney(1)											126	118	121					2																	209169642		2203	4300	6503	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1541C>A	2.37:g.209169642C>A	ENSP00000264380:p.Ser514Tyr		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806004	0.70682	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862	T;T	0.68331	1.5;-0.32	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.995;0.994	D;D;D;D	0.80764	0.991;0.994;0.979;0.989	T	0.68808	-0.5311	10	0.27082	T	0.32	-17.8392	20.009	0.97446	0.0:1.0:0.0:0.0	.	514;428;514;417	Q9Y2I7;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.	Y	417;514;514;428	ENSP00000264380:S514Y;ENSP00000384356:S514Y	ENSP00000264380:S514Y	S	+	2	0	PIKFYVE	208877887	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	7.818000	0.86416	2.733000	0.93635	0.563000	0.77884	TCT		0.517	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		A	209169642	C	A	209169642	3	1	406	1	0	0	0	0	1	0	0	0	11926	913	32	4	1583	4	PIKFYVE	2	209169642	Missense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08	29715028	209169642	34029731	11	22366											
VHL	7428	broad.mit.edu	37	3	10183734	10183734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr3:10183734C>A	ENST00000256474.2	+	1	1043	c.203C>A	c.(202-204)tCg>tAg	p.S68*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCGGTGAACTCGCGCGAGCCC	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Nonsense(15)|Deletion - Frameshift(3)|Complex - frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(24)	GRCh37	CM003058|CM971566	VHL	M							8	11	10					3																	10183734		2146	4213	6359	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.203C>A	3.37:g.10183734C>A	ENSP00000256474:p.Ser68*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088584	0.94100	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.45	4.53	0.55603	.	0.369470	0.28203	N	0.016215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8236	13.5532	0.61745	0.0:0.7597:0.2403:0.0	.	.	.	.	X	68	.	ENSP00000256474:S68X	S	+	2	0	VHL	10158734	0.146000	0.22672	0.981000	0.43875	0.672000	0.39443	0.351000	0.20096	2.567000	0.86603	0.550000	0.68814	TCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183734	C	A	10183734	4	1	406	1	0	0	0	0	0	1	0	0	17167	893	31	4	205	4	VHL	3	10183734	Nonsense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08		10183734	187838696	12	22367											
OXSM	54995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	25832713	25832713	+	Missense_Mutation	SNP	G	G	C	rs202016313		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr3:25832713G>C	ENST00000280701.3	+	2	301	c.202G>C	c.(202-204)Gga>Cga	p.G68R	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Missense_Mutation_p.G68R	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	68					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.G68R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCGTCTTATCGGAGGAGAGAG	0.463																																																1	Substitution - Missense(1)	kidney(1)											167	153	158					3																	25832713		2203	4300	6503	SO:0001583	missense	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"beta-ketoacyl synthase"	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.202G>C	3.37:g.25832713G>C	ENSP00000280701:p.Gly68Arg			Missense_Mutation	SNP	ENST00000280701.3	37	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	1.031	-0.681817	0.03353	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	5.14	4.26	0.50523	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.922420	0.09398	N	0.807610	T	0.28101	0.0693	N	0.08118	0	0.18873	N	0.999981	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.19192	-1.0313	9	0.33141	T	0.24	0.296	15.6746	0.77307	0.0:0.738:0.262:0.0	.	68;68	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	R	68	.	ENSP00000280701:G68R	G	+	1	0	OXSM	25807717	0.075000	0.21258	0.638000	0.29380	0.129000	0.20672	1.898000	0.39809	1.391000	0.46566	-0.270000	0.10280	GGA		0.463	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		C	25832713	G	C	25832713	3	2	406	1	0	0	0	0	1	0	0	0	11337	1117	39	4	204	4	OXSM	3	25832713	Missense_Mutation	SNP	G	TCGA-BP-4995-01A-01D-1462-08	15648979	25832713	172189717	13	22368											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52620685	52620685	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr3:52620685G>C	ENST00000296302.7	-	20	3144	c.3143C>G	c.(3142-3144)cCa>cGa	p.P1048R	PBRM1_ENST00000356770.4_Missense_Mutation_p.P1016R|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1023R|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1023R|PBRM1_ENST00000337303.4_Missense_Mutation_p.P1048R|PBRM1_ENST00000409767.1_Missense_Mutation_p.P1063R|PBRM1_ENST00000409057.1_Missense_Mutation_p.P1048R|PBRM1_ENST00000409114.3_Missense_Mutation_p.P1063R			Q86U86	PB1_HUMAN	polybromo 1	1048	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P1048R(2)|p.P1016R(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAAGTTTTCTGGGCATAACTT	0.363			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											55	60	58					3																	52620685		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3143C>G	3.37:g.52620685G>C	ENSP00000296302:p.Pro1048Arg		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	18.52	3.642717	0.67244	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	D;D;D;D;D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.24	5.24	0.73138	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.93776	0.8010	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94767	0.7941	10	0.87932	D	0	.	18.8065	0.92040	0.0:0.0:1.0:0.0	.	1023;1047;1023;1048;1063;1063;1048;1016;1048	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	R	1016;1023;1048;1048;1048;1023;1063;1063;1047;1006	ENSP00000349213:P1016R;ENSP00000378307:P1023R;ENSP00000296302:P1048R;ENSP00000338302:P1048R;ENSP00000386593:P1048R;ENSP00000386529:P1023R;ENSP00000386643:P1063R;ENSP00000386601:P1063R;ENSP00000387775:P1047R;ENSP00000397662:P1006R	ENSP00000296302:P1048R	P	-	2	0	PBRM1	52595725	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.410000	0.97335	2.435000	0.82474	0.555000	0.69702	CCA		0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52620685	G	C	52620685	3	2	406	1	0	0	0	0	1	0	0	0	11493	1348	47	4	1801	4	PBRM1	3	52620685	Missense_Mutation	SNP	G	TCGA-BP-4995-01A-01D-1462-08	26787972	52620685	145401745	14	22369											
COL6A6	131873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130289957	130289957	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr3:130289957C>T	ENST00000358511.6	+	6	2728	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	COL6A6_ENST00000453409.2_Silent_p.F899F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	899	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.F899F(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCACATGTTCACTGAAGCCC	0.537																																																1	Substitution - coding silent(1)	kidney(1)											42	44	44					3																	130289957		1893	4099	5992	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2697C>T	3.37:g.130289957C>T			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.537	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		T	130289957	C	T	130289957	2	4	406	1	0	0	0	0	0	0	0	1	3705	825	29	2		2	COL6A6	3	130289957	Silent	SNP	C	TCGA-BP-4995-01A-01D-1462-08	77669272	130289957	67732473	15	22370											
NCEH1	57552	broad.mit.edu;hgsc.bcm.edu	37	3	172365895	172365895	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr3:172365895T>A	ENST00000475381.1	-	2	381	c.148A>T	c.(148-150)Atc>Ttc	p.I50F	NCEH1_ENST00000538775.1_Missense_Mutation_p.I82F|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Missense_Mutation_p.I82F			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	50					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)	p.I82F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGGTAGTGGATCAGGTTACTC	0.512																																																1	Substitution - Missense(1)	kidney(1)											57	59	58					3																	172365895		2203	4300	6503	SO:0001583	missense	57552			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.148A>T	3.37:g.172365895T>A	ENSP00000418571:p.Ile50Phe		B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.902|8.902	0.956491|0.956491	0.18507|0.18507	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512|ENST00000424772	T;T;T|.	0.04406|.	3.66;3.63;3.63|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.540708|.	0.20437|.	N|.	0.092343|.	T|.	0.58807|.	0.2148|.	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;B|.	0.38767|.	0.646;0.242|.	B;B|.	0.38562|.	0.276;0.074|.	T|.	0.58482|.	-0.7629|.	10|.	0.17369|.	T|.	0.5|.	-12.4547|-12.4547	8.5685|8.5685	0.33554|0.33554	0.0:0.1429:0.0:0.8571|0.0:0.1429:0.0:0.8571	.|.	82;50|.	F5H7K4;Q6PIU2|.	.;NCEH1_HUMAN|.	F|C	50;82;82|72	ENSP00000418571:I50F;ENSP00000442464:I82F;ENSP00000273512:I82F|.	ENSP00000273512:I82F|.	I|X	-|-	1|3	0|0	NCEH1|NCEH1	173848589|173848589	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.717000|0.717000	0.41224|0.41224	2.009000|2.009000	0.40903|0.40903	2.238000|2.238000	0.73509|0.73509	0.533000|0.533000	0.62120|0.62120	ATC|TGA		0.512	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		A	172365895	T	A	172365895	3	1	406	1	0	0	0	0	1	0	0	0	10217	1435	50	5	1118	5	NCEH1	3	172365895	Missense_Mutation	SNP	T	TCGA-BP-4995-01A-01D-1462-08	42075938	172365895	25656535	16	22371											
TEC	7006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	48147523	48147523	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr4:48147523C>A	ENST00000381501.3	-	13	1312	c.1155G>T	c.(1153-1155)agG>agT	p.R385S	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R385S(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATTTGCCAAGCCTCACCACTC	0.458																																																1	Substitution - Missense(1)	kidney(1)											156	136	143					4																	48147523		2203	4300	6503	SO:0001583	missense	100124696			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1155G>T	4.37:g.48147523C>A	ENSP00000370912:p.Arg385Ser		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331700	0.41297	.	.	ENSG00000135605	ENST00000381501	T	0.62105	0.05	5.62	3.65	0.41850	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	N	0.22421	0.69	0.44619	D	0.997598	D	0.56521	0.976	P	0.60286	0.872	T	0.54417	-0.8297	10	0.21540	T	0.41	.	1.2784	0.02035	0.2444:0.4213:0.1413:0.193	.	385	P42680	TEC_HUMAN	S	385	ENSP00000370912:R385S	ENSP00000370912:R385S	R	-	3	2	TEC	47842280	0.762000	0.28451	1.000000	0.80357	0.992000	0.81027	0.088000	0.14979	0.547000	0.28938	0.491000	0.48974	AGG		0.458	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			A	48147523	C	A	48147523	3	1	406	1	0	0	0	0	1	0	0	0	15747	738	26	4	764	4	TEC	4	48147523	Missense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08		48147523	143006753	17	22372											
ANK2	287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	114277953	114277953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr4:114277953C>T	ENST00000357077.4	+	38	8232	c.8179C>T	c.(8179-8181)Cag>Tag	p.Q2727*	ANK2_ENST00000264366.6_Nonsense_Mutation_p.Q2694*|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2727					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q2727*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAGATACTCAGGAAGAGCC	0.423																																																1	Substitution - Nonsense(1)	kidney(1)											73	73	73					4																	114277953		2203	4300	6503	SO:0001587	stop_gained	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8179C>T	4.37:g.114277953C>T	ENSP00000349588:p.Gln2727*		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	47	13.584009	0.99751	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	.	.	.	5.88	3.22	0.36961	.	0.904573	0.09315	N	0.819085	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5672	0.17177	0.218:0.4841:0.2329:0.065	.	.	.	.	X	2727;2694	.	.	Q	+	1	0	ANK2	114497402	0.012000	0.17670	0.001000	0.08648	0.014000	0.08584	1.400000	0.34577	0.375000	0.24679	-0.165000	0.13383	CAG		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114277953	C	T	114277953	4	4	406	1	0	0	0	0	0	1	0	0	621	827	29	2	8394	2	ANK2	4	114277953	Nonsense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08	66130430	114277953	76876323	18	22373											
TLR2	7097	hgsc.bcm.edu	37	4	154626180	154626188	+	In_Frame_Del	DEL	TGTGAAGAG	TGTGAAGAG	-	rs5743705	byFrequency	TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	TGTGAAGAG	TGTGAAGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr4:154626180_154626188delTGTGAAGAG	ENST00000260010.6	+	1	3529_3537	c.2121_2129delTGTGAAGAG	c.(2119-2130)tttgtgaagagt>ttt	p.VKS708del		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	708	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CTGAAAACTTTGTGAAGAGTGAGTGGTGC	0.407																																																0																																										SO:0001651	inframe_deletion	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.2121_2129delTGTGAAGAG	4.37:g.154626180_154626188delTGTGAAGAG	ENSP00000260010:p.Val708_Ser710del		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	In_Frame_Del	DEL	ENST00000260010.6	37	CCDS3784.1																																																																																				0.407	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			-	154626188	TGTGAAGAG	-	154626180	7	5	406	1	0	1	0	1	0	0	0	0	15956	1809	63	0	2123	0	TLR2	4	154626180	In_Frame_Del	DEL	TGTGAAGAG	TCGA-BP-4995-01A-01D-1462-08	40348227	154626180	36528096	19	22374											
DCHS2	54798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	155253991	155253991	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr4:155253991C>T	ENST00000357232.4	-	9	1871	c.1872G>A	c.(1870-1872)tcG>tcA	p.S624S	DCHS2_ENST00000339452.1_Silent_p.S1123S|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	624	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)	p.S1123S(1)|p.S624S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGTTCCAGCGAGTACCTAA	0.527																																																2	Substitution - coding silent(2)	kidney(2)											51	52	51					4																	155253991		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1872G>A	4.37:g.155253991C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.527	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		T	155253991	C	T	155253991	2	4	406	1	0	0	0	0	0	0	0	1	4290	755	27	1		1	DCHS2	4	155253991	Silent	SNP	C	TCGA-BP-4995-01A-01D-1462-08	627811	155253991	35900285	20	22375											
PCDHA5	56143	hgsc.bcm.edu	37	5	140202821	140202821	+	Silent	SNP	C	C	G	rs80008076	byFrequency	TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr5:140202821C>G	ENST00000529859.1	+	1	1461	c.1461C>G	c.(1459-1461)gcC>gcG	p.A487A	PCDHA5_ENST00000378126.3_Silent_p.A487A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A487A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A487A(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACGCCCTGGTGTCCT	0.667													.|||	72	0.014377	0.0537	0.0014	5008	,	,		18355	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	lung(2)						G	,,,,,,	227,4179	797.7+/-415.4	9,209,1985	68	73	71		,,,,1461,,1461	2	1	5	dbSNP_131	71	1,8599	814.7+/-407.0	0,1,4299	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	9,210,6284	GG,GC,CC		0.0116,5.1521,1.753	,,,,,,	,,,,487/937,,487/817	140202821	228,12778	2203	4300	6503	SO:0001819	synonymous_variant	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1461C>G	5.37:g.140202821C>G			O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	CCDS54917.1																																																																																				0.667	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		G	140202821	C	G	140202821	2	3	406	1	0	0	0	0	0	0	0	1	11529	610	22	4		4	PCDHA5	5	140202821	Silent	SNP	C	TCGA-BP-4995-01A-01D-1462-08		140202821	40712439	21	22376											
PCDHB7	56129	broad.mit.edu;hgsc.bcm.edu	37	5	140553991	140553991	+	Silent	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr5:140553991G>A	ENST00000231137.3	+	1	1749	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	525	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)	p.Q525Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTGCAGGCGTTCGAGT	0.706																																																1	Substitution - coding silent(1)	kidney(1)											65	70	69					5																	140553991		2203	4300	6503	SO:0001819	synonymous_variant	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1575G>A	5.37:g.140553991G>A			A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		A	140553991	G	A	140553991	2	1	406	1	0	0	0	0	0	0	0	1	11549	991	35	2		2	PCDHB7	5	140553991	Silent	SNP	G	TCGA-BP-4995-01A-01D-1462-08	351170	140553991	40361269	22	22377											
GRK6	2870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176860405	176860405	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr5:176860405T>A	ENST00000355472.5	+	7	759	c.591T>A	c.(589-591)ttT>ttA	p.F197L	GRK6_ENST00000507633.1_Missense_Mutation_p.F197L|GRK6_ENST00000355958.5_Missense_Mutation_p.F197L|GRK6_ENST00000528793.1_Missense_Mutation_p.F197L|GRK6_ENST00000393576.3_Missense_Mutation_p.F197L	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.F197L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGTGGCTTTGGGGAGGTGA	0.617																																																1	Substitution - Missense(1)	kidney(1)											57	60	59					5																	176860405		2203	4300	6503	SO:0001583	missense	2870				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.591T>A	5.37:g.176860405T>A	ENSP00000347655:p.Phe197Leu		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358223	0.82243	.	.	ENSG00000198055	ENST00000506296;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T	0.34275	2.68;1.37;1.37;1.37;1.37;1.37	5.4	4.25	0.50352	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	H	0.94222	3.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.83275	0.996;0.996;0.993;0.994	T	0.75758	-0.3205	10	0.87932	D	0	-25.5002	10.6658	0.45731	0.0:0.0745:0.0:0.9255	.	197;167;197;197	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	L	165;197;197;197;197;197	ENSP00000421055:F165L;ENSP00000347655:F197L;ENSP00000427581:F197L;ENSP00000377204:F197L;ENSP00000348230:F197L;ENSP00000433511:F197L	ENSP00000347655:F197L	F	+	3	2	GRK6	176793011	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	1.229000	0.32600	2.052000	0.61016	0.459000	0.35465	TTT		0.617	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		A	176860405	T	A	176860405	3	1	406	1	0	0	0	0	1	0	0	0	6795	1809	63	5	617	5	GRK6	5	176860405	Missense_Mutation	SNP	T	TCGA-BP-4995-01A-01D-1462-08	36306414	176860405	4054855	23	22378											
RREB1	6239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7231266	7231266	+	Silent	SNP	T	T	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr6:7231266T>A	ENST00000349384.6	+	10	3248	c.2934T>A	c.(2932-2934)tcT>tcA	p.S978S	RREB1_ENST00000334984.6_Silent_p.S978S|RREB1_ENST00000379938.2_Silent_p.S978S|RREB1_ENST00000379933.3_Silent_p.S978S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	978	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S978S(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCGGCCCTTCTCTTCCTGTAA	0.682																																																2	Substitution - coding silent(2)	kidney(2)											19	22	21					6																	7231266		2203	4300	6503	SO:0001819	synonymous_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2934T>A	6.37:g.7231266T>A			A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																				0.682	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			A	7231266	T	A	7231266	2	1	406	1	0	0	0	0	0	0	0	1	13685	1538	54	5		5	RREB1	6	7231266	Silent	SNP	T	TCGA-BP-4995-01A-01D-1462-08		7231266	163883801	24	22379											
CYP3A7	1551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99313483	99313483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr7:99313483C>A	ENST00000336374.2	-	7	570	c.568G>T	c.(568-570)Gga>Tga	p.G190*	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	190					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.G190*(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ATGCTCACTCCAAATGATGTG	0.423																																																1	Substitution - Nonsense(1)	kidney(1)											192	172	179					7																	99313483		2203	4300	6503	SO:0001587	stop_gained	1551			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.568G>T	7.37:g.99313483C>A	ENSP00000337450:p.Gly190*		A4D288|Q9H241	Nonsense_Mutation	SNP	ENST00000336374.2	37	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698995	0.68501	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	.	.	.	4.1	4.1	0.47936	.	0.046375	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.1324	0.31035	0.0:0.8848:0.0:0.1152	.	.	.	.	X	190	.	ENSP00000292414:G190X	G	-	1	0	CYP3A7	99151419	1.000000	0.71417	0.987000	0.45799	0.695000	0.40330	1.920000	0.40025	1.967000	0.57214	0.555000	0.69702	GGA		0.423	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			A	99313483	C	A	99313483	4	1	406	1	0	0	0	0	0	1	0	0	4183	603	21	4	971	4	CYP3A7	7	99313483	Nonsense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08		99313483	59825180	25	22380											
SPAM1	6677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123593857	123593857	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr7:123593857G>A	ENST00000439500.1	+	4	846	c.233G>A	c.(232-234)aGc>aAc	p.S78N	SPAM1_ENST00000402183.2_Missense_Mutation_p.S78N|SPAM1_ENST00000460182.1_Missense_Mutation_p.S78N|SPAM1_ENST00000223028.7_Missense_Mutation_p.S78N|SPAM1_ENST00000340011.5_Missense_Mutation_p.S78N	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	78					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.S78N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCATAGGAAGCCCCCGAATA	0.428																																																2	Substitution - Missense(2)	kidney(2)											46	44	45					7																	123593857		2203	4300	6503	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.233G>A	7.37:g.123593857G>A	ENSP00000402123:p.Ser78Asn		Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313784	0.60414	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	6.03	3.2	0.36748	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.139520	0.64402	D	0.000004	T	0.26448	0.0646	L	0.38175	1.15	0.31847	N	0.622745	P;P	0.46578	0.88;0.88	P;P	0.50659	0.647;0.647	T	0.16837	-1.0389	10	0.19590	T	0.45	-16.6087	10.5211	0.44920	0.0675:0.3785:0.5541:0.0	.	78;78	Q8TC30;P38567	.;HYALP_HUMAN	N	78	ENSP00000386028:S78N;ENSP00000391491:S78N;ENSP00000417934:S78N;ENSP00000345849:S78N;ENSP00000402123:S78N;ENSP00000223028:S78N	ENSP00000223028:S78N	S	+	2	0	SPAM1	123381093	0.022000	0.18835	0.992000	0.48379	0.344000	0.29017	0.387000	0.20718	0.401000	0.25424	0.655000	0.94253	AGC		0.428	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123593857	G	A	123593857	3	1	406	1	0	0	0	0	1	0	0	0	14992	971	34	2	235	2	SPAM1	7	123593857	Missense_Mutation	SNP	G	TCGA-BP-4995-01A-01D-1462-08	24280374	123593857	35544806	26	22381											
C8orf42	157695	broad.mit.edu	37	8	442623	442623	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr8:442623G>A	ENST00000324079.6	-	3	574	c.334C>T	c.(334-336)Cca>Tca	p.P112S	TDRP_ENST00000427263.2_Missense_Mutation_p.P112S|TDRP_ENST00000523656.1_Missense_Mutation_p.P112S|TDRP_ENST00000524229.1_5'Flank			Q86YL5	TDRP_HUMAN	testis development related protein	112					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P112S(1)									GCAAGTTTTGGAGGCTCCCAA	0.478																																																1	Substitution - Missense(1)	kidney(1)											76	83	81					8																	442623		1856	4097	5953	SO:0001583	missense	157695			AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 42"	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.334C>T	8.37:g.442623G>A	ENSP00000315111:p.Pro112Ser		B6VF03|B9EG53	Missense_Mutation	SNP	ENST00000324079.6	37	CCDS47759.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677681	0.88445	.	.	ENSG00000180190	ENST00000324079;ENST00000523656;ENST00000427263	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	L	0.61218	1.895	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78445	-0.2201	9	0.87932	D	0	-27.4368	18.1586	0.89701	0.0:0.0:1.0:0.0	.	112;112	B6VF03;Q86YL5	.;CH042_HUMAN	S	112	.	ENSP00000315111:P112S	P	-	1	0	C8orf42	432623	1.000000	0.71417	0.976000	0.42696	0.932000	0.56968	6.208000	0.72165	2.890000	0.99128	0.655000	0.94253	CCA		0.478	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1	NM_175075		A	442623	G	A	442623	3	1	406	1	0	0	0	0	1	0	0	0	2430	1174	41	2	227	2	C8orf42	8	442623	Missense_Mutation	SNP	G	TCGA-BP-4995-01A-01D-1462-08		442623	145921399	27	22382											
SLC7A2	6542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	17412117	17412117	+	Silent	SNP	G	G	A	rs1134978		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr8:17412117G>A	ENST00000494857.1	+	8	1322	c.1104G>A	c.(1102-1104)gcG>gcA	p.A368A	SLC7A2_ENST00000522656.1_Silent_p.A368A|SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000004531.10_Silent_p.A408A|SLC7A2_ENST00000470360.1_Intron	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	368					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.A368A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGCTATGGCGGAGGATGGGT	0.413																																																1	Substitution - coding silent(1)	kidney(1)						G	,,	0,4406		0,0,2203	200	186	191		1104,1224,	4.7	1	8		191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	SLC7A2	NM_001008539.3,NM_001164771.1,NM_003046.5	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	368/659,408/699,	17412117	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1104G>A	8.37:g.17412117G>A			B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	CCDS34852.1																																																																																				0.413	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		A	17412117	G	A	17412117	2	1	406	1	0	0	0	0	0	0	0	1	14703	1103	39	1		1	SLC7A2	8	17412117	Silent	SNP	G	TCGA-BP-4995-01A-01D-1462-08	16969494	17412117	128951905	28	22383											
CHMP7	91782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	23118090	23118090	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr8:23118090A>C	ENST00000397677.1	+	11	1988	c.1340A>C	c.(1339-1341)gAa>gCa	p.E447A	CHMP7_ENST00000313219.7_Missense_Mutation_p.E447A	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	447					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.E447A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGCAATTGGAACCGACTCTA	0.423																																																1	Substitution - Missense(1)	kidney(1)											115	112	113					8																	23118090		2203	4300	6503	SO:0001583	missense	91782			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1340A>C	8.37:g.23118090A>C	ENSP00000380794:p.Glu447Ala		B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553302	0.65425	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.61510	0.1;0.1	6.07	3.61	0.41365	.	0.470194	0.24748	N	0.035935	T	0.39279	0.1072	N	0.24115	0.695	0.38899	D	0.957275	B	0.25667	0.131	B	0.24541	0.054	T	0.21008	-1.0258	10	0.44086	T	0.13	-6.4291	6.4841	0.22079	0.6195:0.304:0.0765:0.0	.	447	Q8WUX9	CHMP7_HUMAN	A	447	ENSP00000380794:E447A;ENSP00000324491:E447A	ENSP00000324491:E447A	E	+	2	0	CHMP7	23174035	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.013000	0.40942	0.491000	0.27793	-0.313000	0.08912	GAA		0.423	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		C	23118090	A	C	23118090	3	2	406	1	0	0	0	0	1	0	0	0	3363	246	9	5	1378	5	CHMP7	8	23118090	Missense_Mutation	SNP	A	TCGA-BP-4995-01A-01D-1462-08	5705973	23118090	123245932	29	22384											
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113212507	113212507	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr9:113212507T>C	ENST00000401783.2	-	24	4271	c.3935A>G	c.(3934-3936)cAg>cGg	p.Q1312R	SVEP1_ENST00000374469.1_Missense_Mutation_p.Q1289R|SVEP1_ENST00000302728.8_Missense_Mutation_p.Q1312R|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1312	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.Q1312R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGGTTTGACTGGCATTCATT	0.458																																																1	Substitution - Missense(1)	kidney(1)											124	116	119					9																	113212507		1886	4111	5997	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3935A>G	9.37:g.113212507T>C	ENSP00000384917:p.Gln1312Arg		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.478185	0.26511	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;D	0.87412	-0.98;-0.99;-2.25	5.74	4.6	0.57074	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.423925	0.25981	N	0.027070	T	0.75975	0.3923	N	0.17631	0.505	0.24982	N	0.991591	P;B	0.43231	0.801;0.239	B;B	0.40741	0.339;0.07	T	0.64761	-0.6331	10	0.13470	T	0.59	.	9.6949	0.40152	0.42:0.0:0.0:0.58	.	1312;1312	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	R	1312;1289;1312	ENSP00000384917:Q1312R;ENSP00000363593:Q1289R;ENSP00000304118:Q1312R	ENSP00000304118:Q1312R	Q	-	2	0	SVEP1	112252328	0.998000	0.40836	0.987000	0.45799	0.907000	0.53573	2.767000	0.47637	0.984000	0.38629	-0.414000	0.06135	CAG		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113212507	T	C	113212507	3	2	406	1	0	0	0	0	1	0	0	0	15425	1580	55	3	6880	3	SVEP1	9	113212507	Missense_Mutation	SNP	T	TCGA-BP-4995-01A-01D-1462-08		113212507	28000924	30	22385											
ZNF438	220929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	31134199	31134199	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr10:31134199C>T	ENST00000361310.3	-	7	2507	c.2178G>A	c.(2176-2178)ctG>ctA	p.L726L	ZNF438_ENST00000444692.2_Silent_p.L716L|ZNF438_ENST00000413025.1_Silent_p.L726L|ZNF438_ENST00000452305.1_Silent_p.L716L|ZNF438_ENST00000375311.1_Silent_p.L290L|ZNF438_ENST00000442986.1_Silent_p.L726L|ZNF438_ENST00000436087.2_Silent_p.L726L|ZNF438_ENST00000538351.2_Silent_p.L677L|ZNF438_ENST00000331737.6_Silent_p.L716L			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	726					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L726L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GCTGCCTTTTCAGTCTTGGAC	0.547																																																1	Substitution - coding silent(1)	kidney(1)											94	93	93					10																	31134199		2203	4300	6503	SO:0001819	synonymous_variant	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2178G>A	10.37:g.31134199C>T			A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	CCDS7168.1																																																																																				0.547	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		T	31134199	C	T	31134199	2	4	406	1	0	0	0	0	0	0	0	1	17915	813	29	2		2	ZNF438	10	31134199	Silent	SNP	C	TCGA-BP-4995-01A-01D-1462-08		31134199	104400548	31	22386											
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61815520	61815520	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr10:61815520A>T	ENST00000280772.2	-	42	13152	c.12961T>A	c.(12961-12963)Tgt>Agt	p.C4321S	ANK3_ENST00000373827.2_Missense_Mutation_p.C1805S|ANK3_ENST00000503366.1_Missense_Mutation_p.C1812S|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000355288.2_Missense_Mutation_p.C945S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4321					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.C4321S(1)|p.C945S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACAGGCACACAGGGTTTAGTC	0.463																																																2	Substitution - Missense(2)	kidney(2)											278	261	267					10																	61815520		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12961T>A	10.37:g.61815520A>T	ENSP00000280772:p.Cys4321Ser		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769971	0.49680	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.72725	0.17;0.09;-0.68;1.16;0.79;0.07	6.03	6.03	0.97812	.	0.162420	0.29646	N	0.011570	T	0.45236	0.1332	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B	0.27932	0.0;0.0;0.0;0.194;0.0;0.0;0.002	B;B;B;B;B;B;B	0.24541	0.0;0.0;0.0;0.054;0.001;0.0;0.001	T	0.52631	-0.8550	10	0.02654	T	1	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	1812;945;1805;4321;1046;945;344	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	S	4321;1805;403;93;945;1812;1791;1046	ENSP00000280772:C4321S;ENSP00000362933:C1805S;ENSP00000362926:C403S;ENSP00000423057:C93S;ENSP00000347436:C945S;ENSP00000425236:C1812S	ENSP00000280772:C4321S	C	-	1	0	ANK3	61485526	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.865000	0.56033	2.313000	0.78055	0.454000	0.30748	TGT		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61815520	A	T	61815520	3	4	406	1	0	0	0	0	1	0	0	0	622	188	7	5	180	5	ANK3	10	61815520	Missense_Mutation	SNP	A	TCGA-BP-4995-01A-01D-1462-08	30681321	61815520	73719227	32	22387											
DLG5	9231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	79553777	79553777	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr10:79553777C>G	ENST00000372391.2	-	31	5650	c.5645G>C	c.(5644-5646)aGg>aCg	p.R1882T	DLG5_ENST00000372388.2_Missense_Mutation_p.R1542T|RP13-39P12.3_ENST00000601701.1_RNA|DLG5_ENST00000459739.1_5'UTR|RP13-39P12.3_ENST00000434097.2_RNA	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1882	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.R1882T(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGTGAAGTACCTGCTGTACTC	0.577																																																1	Substitution - Missense(1)	kidney(1)											229	182	198					10																	79553777		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5645G>C	10.37:g.79553777C>G	ENSP00000361467:p.Arg1882Thr		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702525	0.68501	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.41400	1.0;1.0;1.0	5.72	0.839	0.18907	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.178894	0.27420	N	0.019453	T	0.36303	0.0962	L	0.36672	1.1	0.35633	D	0.810343	B;P	0.45768	0.173;0.866	B;P	0.48598	0.139;0.583	T	0.43605	-0.9381	10	0.59425	D	0.04	.	7.4516	0.27242	0.0:0.3324:0.0:0.6676	.	1882;1542	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	T	1882;843;1542	ENSP00000361467:R1882T;ENSP00000394797:R843T;ENSP00000361464:R1542T	ENSP00000361464:R1542T	R	-	2	0	DLG5	79223783	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.939000	0.40213	0.254000	0.21573	0.655000	0.94253	AGG		0.577	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			G	79553777	C	G	79553777	3	3	406	1	0	0	0	0	1	0	0	0	4560	681	24	4	122	4	DLG5	10	79553777	Missense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08	17738257	79553777	55980970	33	22388											
FANCF	2188	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22646844	22646844	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr11:22646844C>T	ENST00000327470.3	-	1	543	c.513G>A	c.(511-513)ctG>ctA	p.L171L	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	171					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.L171L(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GCAGACGCTCCAGCAGCAGCT	0.612			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										yes	Rec		Fanconi anaemia F	11	11p15	2188	"Fanconi anemia, complementation group F"		L	1	Substitution - coding silent(1)	kidney(1)											70	86	80					11																	22646844		2203	4299	6502	SO:0001819	synonymous_variant	2188	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.513G>A	11.37:g.22646844C>T		757	Q52LM0	Silent	SNP	ENST00000327470.3	37	CCDS7857.1																																																																																				0.612	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		T	22646844	C	T	22646844	2	4	406	1	0	0	0	0	0	0	0	1	5669	581	21	2		2	FANCF	11	22646844	Silent	SNP	C	TCGA-BP-4995-01A-01D-1462-08		22646844	112359672	34	22389											
CHRM4	1132	broad.mit.edu	37	11	46407571	46407571	+	Silent	SNP	C	C	A	rs202091776		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr11:46407571C>A	ENST00000433765.2	-	1	536	c.537G>T	c.(535-537)acG>acT	p.T179T		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	179					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.T179T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGTCGGGCACCGTCCGCTTAC	0.582																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)											1	Substitution - coding silent(1)	kidney(1)											37	42	41					11																	46407571		2164	4286	6450	SO:0001819	synonymous_variant	1132			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.537G>T	11.37:g.46407571C>A			B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	CCDS44581.1																																																																																				0.582	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		A	46407571	C	A	46407571	2	1	406	1	0	0	0	0	0	0	0	1	3381	639	23	4		4	CHRM4	11	46407571	Silent	SNP	C	TCGA-BP-4995-01A-01D-1462-08	23760727	46407571	88598945	35	22390											
MTA2	9219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62366080	62366080	+	Silent	SNP	C	C	G			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr11:62366080C>G	ENST00000278823.2	-	4	611	c.222G>C	c.(220-222)ggG>ggC	p.G74G	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	74	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G74G(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GCTCAGACACCCCTGGCTGCT	0.483																																																1	Substitution - coding silent(1)	kidney(1)											133	141	138					11																	62366080		2202	4299	6501	SO:0001819	synonymous_variant	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.222G>C	11.37:g.62366080C>G			Q68DB1|Q9UQB5	Silent	SNP	ENST00000278823.2	37	CCDS8022.1																																																																																				0.483	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		G	62366080	C	G	62366080	2	3	406	1	0	0	0	0	0	0	0	1	9911	610	22	4		4	MTA2	11	62366080	Silent	SNP	C	TCGA-BP-4995-01A-01D-1462-08	15958509	62366080	72640436	36	22391											
TPCN2	219931	broad.mit.edu	37	11	68853399	68853399	+	Splice_Site	SNP	G	G	A	rs145113932		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr11:68853399G>A	ENST00000294309.3	+	22	2104		c.e22+1		TPCN2_ENST00000442692.2_Splice_Site|TPCN2_ENST00000542467.1_Intron|MIR3164_ENST00000581178.1_RNA	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACTCAGGCCCGTGAGTCCTCG	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18178	0.0		0.0	False		,,,				2504	0.0															1	Unknown(1)	kidney(1)						G		1,4399	2.1+/-5.4	0,1,2199	111	93	99			3.4	1	11	dbSNP_134	99	0,8588		0,0,4294	no	splice-5	TPCN2	NM_139075.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077			68853399	1,12987	2200	4294	6494	SO:0001630	splice_region_variant	219931			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2003+1G>A	11.37:g.68853399G>A			Q9NT82	Splice_Site	SNP	ENST00000294309.3	37	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031015	0.35797	2.27E-4	0.0	ENSG00000162341	ENST00000294309	.	.	.	4.29	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8047	0.52147	0.0882:0.0:0.9118:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68609975	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	6.311000	0.72835	0.937000	0.37394	0.491000	0.48974	.		0.637	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	Intron	A	68853399	G	A	68853399	5	1	406	1	0	0	0	0	0	0	1	0	16401	1159	40	1	2090	1	TPCN2	11	68853399	Splice_Site	SNP	G	TCGA-BP-4995-01A-01D-1462-08	6487319	68853399	66153117	37	22392											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92087535	92087535	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr11:92087535G>A	ENST00000298047.6	+	1	2274	c.2257G>A	c.(2257-2259)Gcc>Acc	p.A753T	FAT3_ENST00000409404.2_Missense_Mutation_p.A753T|FAT3_ENST00000541502.1_Missense_Mutation_p.A753T|FAT3_ENST00000525166.1_Missense_Mutation_p.A603T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	753	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A753T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCCTATGATGCCGACTCTGG	0.403										TCGA Ovarian(4;0.039)																																						2	Substitution - Missense(2)	kidney(2)											133	136	135					11																	92087535		1911	4128	6039	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2257G>A	11.37:g.92087535G>A	ENSP00000298047:p.Ala753Thr		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	7.200	0.593198	0.13875	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.77	2.75	0.32379	.	.	.	.	.	T	0.50086	0.1595	M	0.80183	2.485	0.35727	D	0.817625	P	0.36465	0.554	B	0.34242	0.178	T	0.54476	-0.8288	9	0.13853	T	0.58	.	11.7719	0.51965	0.0:0.4403:0.4335:0.1262	.	753	Q8TDW7-3	.	T	753;753;753;603	ENSP00000298047:A753T;ENSP00000387040:A753T;ENSP00000443786:A753T;ENSP00000432586:A603T	ENSP00000298047:A753T	A	+	1	0	FAT3	91727183	1.000000	0.71417	0.673000	0.29887	0.941000	0.58515	4.412000	0.59787	0.278000	0.22164	0.467000	0.42956	GCC		0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92087535	G	A	92087535	3	1	406	1	0	0	0	0	1	0	0	0	5693	1319	46	2	2259	2	FAT3	11	92087535	Missense_Mutation	SNP	G	TCGA-BP-4995-01A-01D-1462-08	23234136	92087535	42918981	38	22393											
VEZT	55591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	95694240	95694240	+	Missense_Mutation	SNP	C	C	T	rs373340086		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr12:95694240C>T	ENST00000436874.1	+	12	2236	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.P663S	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	711					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.P711S(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GACCACTGCCCCTCCAACTCC	0.507																																																2	Substitution - Missense(2)	kidney(2)						C	SER/PRO	0,4002		0,0,2001	57	58	58		2131	3.7	0	12		58	1,8325		0,1,4162	no	missense	VEZT	NM_017599.3	74	0,1,6163	TT,TC,CC		0.012,0.0,0.0081	benign	711/780	95694240	1,12327	2001	4163	6164	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2131C>T	12.37:g.95694240C>T	ENSP00000410083:p.Pro711Ser		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.546612	0.00926	0.0	1.2E-4	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.13657	2.57;2.57;2.57	5.51	3.69	0.42338	.	0.870454	0.10728	N	0.640964	T	0.11367	0.0277	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37911	-0.9685	10	0.18276	T	0.48	-12.6324	9.682	0.40076	0.0:0.8009:0.0:0.1991	.	711	Q9HBM0	VEZA_HUMAN	S	711;663;667;711	ENSP00000410083:P711S;ENSP00000261219:P663S;ENSP00000380894:P667S	ENSP00000261219:P663S	P	+	1	0	VEZT	94218371	0.000000	0.05858	0.007000	0.13788	0.019000	0.09904	0.680000	0.25306	0.690000	0.31570	0.650000	0.86243	CCT		0.507	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		T	95694240	C	T	95694240	3	4	406	1	0	0	0	0	1	0	0	0	17161	623	22	2	2177	2	VEZT	12	95694240	Missense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08		95694240	38157655	39	22394											
KIAA0564	23078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42440166	42440166	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr13:42440166C>T	ENST00000379310.3	-	11	1287	c.1219G>A	c.(1219-1221)Gcc>Acc	p.A407T	VWA8_ENST00000281496.6_Missense_Mutation_p.A407T	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	407						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A407T(1)									CTGGTCCCGGCTGGCACCTAT	0.488																																																1	Substitution - Missense(1)	kidney(1)											68	70	69					13																	42440166		2203	4300	6503	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1219G>A	13.37:g.42440166C>T	ENSP00000368612:p.Ala407Thr		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276105	0.40294	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.12361	2.9;2.69	5.29	4.39	0.52855	.	0.000000	0.64402	D	0.000001	T	0.16642	0.0400	M	0.68317	2.08	0.48696	D	0.999699	P	0.37423	0.594	B	0.39185	0.293	T	0.03287	-1.1052	10	0.08381	T	0.77	.	15.0153	0.71578	0.143:0.857:0.0:0.0	.	407	A3KMH1	K0564_HUMAN	T	311;407;407;407	ENSP00000368612:A407T;ENSP00000281496:A407T	ENSP00000251030:A311T	A	-	1	0	KIAA0564	41338166	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.912000	0.39946	2.626000	0.88956	0.557000	0.71058	GCC		0.488	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		T	42440166	C	T	42440166	3	4	406	1	0	0	0	0	1	0	0	0	8187	797	28	2	4642	2	KIAA0564	13	42440166	Missense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08		42440166	72729712	40	22395											
SLC8A3	6547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	70634851	70634851	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr14:70634851G>A	ENST00000381269.2	-	2	1042	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	SLC8A3_ENST00000357887.3_Missense_Mutation_p.R97C|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R97C|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R97C|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R97C	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	97					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.R97C(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCATGAAGCGGTCAGCAATG	0.488																																																2	Substitution - Missense(2)	kidney(2)											87	76	80					14																	70634851		2203	4300	6503	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.289C>T	14.37:g.70634851G>A	ENSP00000370669:p.Arg97Cys		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477613	0.63849	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	4.96	4.96	0.65561	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.84745	0.5540	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.995;0.997	D	0.88596	0.3146	10	0.66056	D	0.02	.	18.3961	0.90499	0.0:0.0:1.0:0.0	.	97;97;97;97	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	C	97	ENSP00000349392:R97C;ENSP00000370669:R97C;ENSP00000350560:R97C;ENSP00000436688:R97C;ENSP00000433531:R97C	ENSP00000349392:R97C	R	-	1	0	SLC8A3	69704604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.648000	0.98483	2.573000	0.86826	0.650000	0.86243	CGC		0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			A	70634851	G	A	70634851	3	1	406	1	0	0	0	0	1	0	0	0	14714	1116	39	1	2633	1	SLC8A3	14	70634851	Missense_Mutation	SNP	G	TCGA-BP-4995-01A-01D-1462-08		70634851	36714689	41	22396											
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	105418040	105418040	+	Nonsense_Mutation	SNP	G	G	A	rs374370326		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr14:105418040G>A	ENST00000333244.5	-	7	3867	c.3748C>T	c.(3748-3750)Cag>Tag	p.Q1250*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1250						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.Q1250*(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTAGGCATCTGCACCTTGGGC	0.622																																																1	Substitution - Nonsense(1)	kidney(1)											86	70	76					14																	105418040		1800	3238	5038	SO:0001587	stop_gained	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3748C>T	14.37:g.105418040G>A	ENSP00000353114:p.Gln1250*		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	39	7.608854	0.98387	.	.	ENSG00000185567	ENST00000333244	.	.	.	4.42	-1.38	0.09027	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9814	0.30185	0.0:0.3331:0.2406:0.4263	.	.	.	.	X	1250	.	ENSP00000353114:Q1250X	Q	-	1	0	AHNAK2	104489085	0.000000	0.05858	0.060000	0.19600	0.017000	0.09413	-0.316000	0.08071	-0.245000	0.09625	-1.621000	0.00791	CAG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		A	105418040	G	A	105418040	4	1	406	1	0	0	0	0	0	1	0	0	415	1328	46	2	13643	2	AHNAK2	14	105418040	Nonsense_Mutation	SNP	G	TCGA-BP-4995-01A-01D-1462-08	34783189	105418040	1931500	42	22397											
RAD51	5888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41011016	41011016	+	Missense_Mutation	SNP	G	G	A	rs121917739	byFrequency	TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr15:41011016G>A	ENST00000267868.3	+	6	717	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	RAD51_ENST00000557850.1_Intron|RAD51_ENST00000423169.2_Missense_Mutation_p.R150Q|RAD51_ENST00000382643.3_Missense_Mutation_p.R151Q|RAD51_ENST00000532743.1_Missense_Mutation_p.R151Q	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	150			R -> Q (in BC; familial; dbSNP:rs121917739). {ECO:0000269|PubMed:10807537}.		ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.R150Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		CCCATTGACCGGGGTGGAGGT	0.453								Homologous recombination					G|||	4	0.000798722	0.003	0.0	5008	,	,		17833	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)	GRCh37	CM002094	RAD51	M	rs121917739	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	18,4388	25.3+/-52.1	1,16,2186	136	127	130	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	452,449,449,452	5.6	1	15	dbSNP_133	130	0,8600		0,0,4300	yes	missense,missense,missense,missense	RAD51	NM_001164269.1,NM_001164270.1,NM_002875.4,NM_133487.3	43,43,43,43	1,16,6486	AA,AG,GG		0.0,0.4085,0.1384	benign,benign,benign,benign	151/341,150/281,150/340,151/341	41011016	18,12988	2203	4300	6503	SO:0001583	missense	5888			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.449G>A	15.37:g.41011016G>A	ENSP00000267868:p.Arg150Gln		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	CCDS10062.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	9.975	1.226462	0.22542	0.004085	0.0	ENSG00000051180	ENST00000527860;ENST00000423169;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.63	5.63	0.86233	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.059789	0.64402	D	0.000002	T	0.09158	0.0226	N	0.00661	-1.28	0.54753	A	0.999988	B;B;B	0.17038	0.02;0.009;0.0	B;B;B	0.12156	0.003;0.007;0.004	T	0.26538	-1.0100	9	0.06236	T	0.91	-7.0689	19.2722	0.94015	0.0:0.0:1.0:0.0	.	150;151;150	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	Q	150;150;150;151;151	ENSP00000432759:R150Q;ENSP00000406602:R150Q;ENSP00000267868:R150Q;ENSP00000433924:R151Q;ENSP00000372088:R151Q	ENSP00000267868:R150Q	R	+	2	0	RAD51	38798308	1.000000	0.71417	0.993000	0.49108	0.872000	0.50106	4.573000	0.60893	2.656000	0.90262	0.655000	0.94253	CGG		0.453	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		A	41011016	G	A	41011016	3	1	406	1	0	0	0	0	1	0	0	0	12991	1116	39	1	592	1	RAD51	15	41011016	Missense_Mutation	SNP	G	TCGA-BP-4995-01A-01D-1462-08		41011016	61520376	43	22398											
PLA2G4D	283748	broad.mit.edu	37	15	42363002	42363002	+	Silent	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr15:42363002G>A	ENST00000290472.3	-	18	2050	c.1956C>T	c.(1954-1956)atC>atT	p.I652I		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	652	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.I652I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCTGGTGTTGATGAAGTAGG	0.632																																																1	Substitution - coding silent(1)	kidney(1)											78	72	74					15																	42363002		2202	4299	6501	SO:0001819	synonymous_variant	283748			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1956C>T	15.37:g.42363002G>A			Q8N176	Silent	SNP	ENST00000290472.3	37	CCDS32203.1																																																																																				0.632	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		A	42363002	G	A	42363002	2	1	406	1	0	0	0	0	0	0	0	1	12006	1280	45	2		2	PLA2G4D	15	42363002	Silent	SNP	G	TCGA-BP-4995-01A-01D-1462-08	1351986	42363002	60168390	44	22399											
MAP1A	4130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43821933	43821933	+	Silent	SNP	T	T	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr15:43821933T>A	ENST00000300231.5	+	5	8571	c.8121T>A	c.(8119-8121)gcT>gcA	p.A2707A	MAP1A_ENST00000382031.1_Silent_p.A2945A|MAP1A_ENST00000399453.1_Silent_p.A2707A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2707					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.A2707A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCAAGACTGCTGACCTTGACT	0.572																																																1	Substitution - coding silent(1)	kidney(1)											134	135	135					15																	43821933		2116	4248	6364	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.8121T>A	15.37:g.43821933T>A			O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	CCDS42031.1																																																																																				0.572	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		A	43821933	T	A	43821933	2	1	406	1	0	0	0	0	0	0	0	1	9229	1567	55	5		5	MAP1A	15	43821933	Silent	SNP	T	TCGA-BP-4995-01A-01D-1462-08	1458931	43821933	58709459	45	22400											
NMRAL1	57407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4519369	4519369	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr16:4519369C>T	ENST00000574733.1	-	3	867	c.138G>A	c.(136-138)gaG>gaA	p.E46E	NMRAL1_ENST00000574425.1_Silent_p.E46E|NMRAL1_ENST00000404295.3_Silent_p.E46E|NMRAL1_ENST00000572391.1_Intron|NMRAL1_ENST00000283429.6_Silent_p.E46E			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	46						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E46E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GCAGCCTCAGCTCCTTTGCTG	0.582																																																1	Substitution - coding silent(1)	kidney(1)											310	235	261					16																	4519369		2197	4300	6497	SO:0001819	synonymous_variant	57407			AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"Short chain dehydrogenase/reductase superfamily / Atypical members"	24987	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 48A, member 1"					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.138G>A	16.37:g.4519369C>T				Silent	SNP	ENST00000574733.1	37	CCDS10516.1																																																																																				0.582	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		T	4519369	C	T	4519369	2	4	406	1	0	0	0	0	0	0	0	1	10503	796	28	2		2	NMRAL1	16	4519369	Silent	SNP	C	TCGA-BP-4995-01A-01D-1462-08		4519369	85835384	46	22401											
ABCC1	4363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	16108476	16108476	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr16:16108476C>T	ENST00000399410.3	+	4	655	c.480C>T	c.(478-480)gcC>gcT	p.A160A	ABCC1_ENST00000345148.5_Silent_p.A160A|ABCC1_ENST00000399408.2_Silent_p.A160A|ABCC1_ENST00000351154.5_Silent_p.A160A|ABCC1_ENST00000346370.5_Silent_p.A160A|ABCC1_ENST00000349029.5_Silent_p.A160A	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	160					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A160A(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TTATGACAGCCTTAAAAGAGG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											117	112	114					16																	16108476		1997	4168	6165	SO:0001819	synonymous_variant	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.480C>T	16.37:g.16108476C>T			A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																				0.522	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		T	16108476	C	T	16108476	2	4	406	1	0	0	0	0	0	0	0	1	49	668	24	2		2	ABCC1	16	16108476	Silent	SNP	C	TCGA-BP-4995-01A-01D-1462-08	11589107	16108476	74246277	47	22402											
GALNS	2588	broad.mit.edu	37	16	88893182	88893182	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr16:88893182G>A	ENST00000268695.5	-	10	1155	c.1067C>T	c.(1066-1068)aCg>aTg	p.T356M	GALNS_ENST00000542788.1_Missense_Mutation_p.T281M|AC092384.1_ENST00000593752.1_5'Flank	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	356	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.T356M(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GCTGGGCGGCGTCAGGCCCGC	0.657																																					GBM(129;1929 2344 25209 33204)											1	Substitution - Missense(1)	kidney(1)											33	30	31					16																	88893182		2191	4293	6484	SO:0001583	missense	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1067C>T	16.37:g.88893182G>A	ENSP00000268695:p.Thr356Met		Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	G	8.782	0.928431	0.18131	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.94000	-3.33;-3.33	5.43	3.16	0.36331	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.998292	0.08115	N	0.995603	D	0.92443	0.7601	L	0.55213	1.73	0.09310	N	1	P;D	0.55605	0.903;0.972	P;P	0.44897	0.463;0.463	T	0.82076	-0.0636	10	0.56958	D	0.05	.	13.0067	0.58710	0.0:0.0:0.4284:0.5716	.	356;356	B2R6P1;P34059	.;GALNS_HUMAN	M	356;281	ENSP00000268695:T356M;ENSP00000438197:T281M	ENSP00000268695:T356M	T	-	2	0	GALNS	87420683	0.001000	0.12720	0.027000	0.17364	0.004000	0.04260	0.464000	0.21988	0.459000	0.27016	-0.271000	0.10264	ACG		0.657	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			A	88893182	G	A	88893182	3	1	406	1	0	0	0	0	1	0	0	0	6208	1145	40	1	521	1	GALNS	16	88893182	Missense_Mutation	SNP	G	TCGA-BP-4995-01A-01D-1462-08	72784706	88893182	1461571	48	22403											
DDX5	1655	hgsc.bcm.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	ACAG	ACAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000450599.2_Intron|MIR5047_ENST00000579212.1_RNA|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs|DDX5_ENST00000580026.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0																																										SO:0001630	splice_region_variant	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG			B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Frame_Shift_Del	DEL	ENST00000225792.5	37	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Frame_Shift_Del	-	62500102	ACAG	-	62500099	8	5	406	1	0	1	0	1	0	0	1	0	4369	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-BP-4995-01A-01D-1462-08		62500099	18695111	49	22404											
ZNF521	25925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	22804557	22804557	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr18:22804557C>T	ENST00000361524.3	-	4	3473	c.3325G>A	c.(3325-3327)Gtc>Atc	p.V1109I	ZNF521_ENST00000538137.2_Missense_Mutation_p.V1109I|ZNF521_ENST00000584787.1_Missense_Mutation_p.V889I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1109					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.V1109I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCGGGAGGGACGTTAATGCCT	0.547			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - Missense(1)	kidney(1)											106	95	99					18																	22804557		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3325G>A	18.37:g.22804557C>T	ENSP00000354794:p.Val1109Ile		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	8.598	0.886081	0.17540	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08102	3.15;3.13	5.98	-10.6	0.00265	.	0.906780	0.09669	N	0.771322	T	0.02494	0.0076	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.46247	-0.9205	10	0.17832	T	0.49	-6.518	10.3168	0.43743	0.0:0.4136:0.2971:0.2893	.	1109	Q96K83	ZN521_HUMAN	I	1109;1143;1109	ENSP00000354794:V1109I;ENSP00000382352:V1109I	ENSP00000354794:V1109I	V	-	1	0	ZNF521	21058555	0.818000	0.29161	0.001000	0.08648	0.707000	0.40811	-0.039000	0.12124	-2.089000	0.00860	-0.312000	0.09012	GTC		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		T	22804557	C	T	22804557	3	4	406	1	0	0	0	0	1	0	0	0	17970	536	19	1	630	1	ZNF521	18	22804557	Missense_Mutation	SNP	C	TCGA-BP-4995-01A-01D-1462-08		22804557	55272691	50	22405											
CDH20	28316	broad.mit.edu;hgsc.bcm.edu	37	18	59221899	59221899	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr18:59221899G>A	ENST00000262717.4	+	12	2775	c.2377G>A	c.(2377-2379)Gcg>Acg	p.A793T	CDH20_ENST00000538374.1_Missense_Mutation_p.A793T|CDH20_ENST00000536675.2_Missense_Mutation_p.A793T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	793					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A793T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GCTCTACGGGGCGTCGGAGGG	0.692																																																1	Substitution - Missense(1)	kidney(1)											5	6	6					18																	59221899		2036	4034	6070	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2377G>A	18.37:g.59221899G>A	ENSP00000262717:p.Ala793Thr		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958500	0.53400	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.76578	-1.03;-1.03;-1.03	5.64	5.64	0.86602	Cadherin, cytoplasmic domain (1);	0.219893	0.47455	D	0.000226	T	0.65719	0.2718	N	0.16130	0.375	0.43890	D	0.996517	B	0.02656	0.0	B	0.06405	0.002	T	0.59182	-0.7502	10	0.39692	T	0.17	.	18.2467	0.89988	0.0:0.0:1.0:0.0	.	793	Q9HBT6	CAD20_HUMAN	T	793	ENSP00000444767:A793T;ENSP00000442226:A793T;ENSP00000262717:A793T	ENSP00000262717:A793T	A	+	1	0	CDH20	57372879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.679000	0.74513	2.826000	0.97356	0.561000	0.74099	GCG		0.692	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		A	59221899	G	A	59221899	3	1	406	1	0	0	0	0	1	0	0	0	3108	1203	42	2	2419	2	CDH20	18	59221899	Missense_Mutation	SNP	G	TCGA-BP-4995-01A-01D-1462-08	36417342	59221899	18855349	51	22406											
PRMT1	3276	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50185319	50185319	+	Silent	SNP	C	C	T	rs143554083	byFrequency	TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr19:50185319C>T	ENST00000391851.4	+	3	420	c.291C>T	c.(289-291)atC>atT	p.I97I	PRMT1_ENST00000454376.2_Silent_p.I115I|MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Silent_p.I69I	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	105	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.I91I(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GCAAGGTCATCGGGGTGAGTC	0.667																																																1	Substitution - coding silent(1)	kidney(1)						C	,,	2,4402	4.2+/-10.8	0,2,2200	35	39	38		291,345,291	-6.4	0.9	19	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PRMT1	NM_001207042.1,NM_001536.4,NM_198318.3	,,	0,3,6499	TT,TC,CC		0.0116,0.0454,0.0231	,,	97/286,115/372,97/354	50185319	3,13001	2202	4300	6502	SO:0001819	synonymous_variant	3276			D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.291C>T	19.37:g.50185319C>T			B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Silent	SNP	ENST00000391851.4	37	CCDS42592.1	.	.	.	.	.	.	.	.	.	.	C	5.956	0.360454	0.11296	4.54E-4	1.16E-4	ENSG00000126457	ENST00000524771	.	.	.	5.04	-6.41	0.01938	.	.	.	.	.	T	0.60038	0.2238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63435	-0.6638	4	.	.	.	-0.5276	13.4751	0.61303	0.0:0.3661:0.0:0.6339	.	.	.	.	L	125	.	.	S	+	2	0	PRMT1	54877131	0.017000	0.18338	0.924000	0.36721	0.407000	0.30961	-1.009000	0.03660	-0.914000	0.03827	-1.214000	0.01621	TCG		0.667	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		T	50185319	C	T	50185319	2	4	406	1	0	0	0	0	0	0	0	1	12540	874	31	1		1	PRMT1	19	50185319	Silent	SNP	C	TCGA-BP-4995-01A-01D-1462-08		50185319	8943664	52	22407											
CTRC	11330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	15771156	15771156	+	Silent	SNP	C	C	T	rs554399153		TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr1:15771156C>T	ENST00000375949.4	+	6	575	c.549C>T	c.(547-549)caC>caT	p.H183H	CTRC_ENST00000483406.1_Intron|CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	183	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.H183H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGGATCACGCCACGTGCT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19440	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											73	67	69					1																	15771156		2203	4300	6503	SO:0001819	synonymous_variant	11330			BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"elastase 4"	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.549C>T	1.37:g.15771156C>T			A8K082|O00765|Q9NUH5	Silent	SNP	ENST00000375949.4	37	CCDS156.1																																																																																				0.632	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		T	15771156	C	T	15771156	2	4	407	1	0	0	0	0	0	0	0	1	4029	535	19	1		1	CTRC	1	15771156	Silent	SNP	C	TCGA-BP-4998-01A-01D-1462-08		15771156	233479465	1	22408											
IRF2BP2	359948	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234743247	234743247	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr1:234743247C>A	ENST00000366609.3	-	2	1430	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R451I|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R467I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCCCAGCCTTCTTTGGTTCAT	0.612																																																1	Substitution - Missense(1)	kidney(1)											108	116	113					1																	234743247		2203	4300	6503	SO:0001583	missense	359948			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1400G>T	1.37:g.234743247C>A	ENSP00000355568:p.Arg467Ile		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799014	0.90538	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.35421	1.31;1.32	5.64	5.64	0.86602	.	0.048540	0.85682	D	0.000000	T	0.53433	0.1796	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.942;0.974	T	0.50651	-0.8803	10	0.54805	T	0.06	-7.1961	19.6878	0.95987	0.0:1.0:0.0:0.0	.	467;451	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	I	451;467	ENSP00000355569:R451I;ENSP00000355568:R467I	ENSP00000355568:R467I	R	-	2	0	IRF2BP2	232809870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.852000	0.75430	2.670000	0.90874	0.655000	0.94253	AGA		0.612	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		A	234743247	C	A	234743247	3	1	407	1	0	0	0	0	1	0	0	0	7832	913	32	4	367	4	IRF2BP2	1	234743247	Missense_Mutation	SNP	C	TCGA-BP-4998-01A-01D-1462-08	218972091	234743247	14507374	2	22409											
SNX17	9784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27598749	27598749	+	Missense_Mutation	SNP	C	C	T	rs377585045		TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr2:27598749C>T	ENST00000233575.2	+	11	1237	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	SNX17_ENST00000542478.1_Missense_Mutation_p.R125W|SNX17_ENST00000543024.1_Missense_Mutation_p.R125W|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.R314W	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	339	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)	p.R339W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCCAGGCCGGGGCCGGGG	0.607																																																1	Substitution - Missense(1)	kidney(1)						C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	46	49	48		1015	5.9	1	2		48	0,8600		0,0,4300	no	missense	SNX17	NM_014748.2	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	339/471	27598749	3,13003	2203	4300	6503	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1015C>T	2.37:g.27598749C>T	ENSP00000233575:p.Arg339Trp		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391040	0.42410	6.81E-4	0.0	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.32753	1.85;1.46;1.44;1.46	5.9	5.9	0.94986	.	0.474898	0.24238	N	0.040286	T	0.27798	0.0684	N	0.14661	0.345	0.37211	D	0.904818	P;P;D;P	0.63880	0.915;0.915;0.993;0.95	B;B;P;P	0.49226	0.329;0.425;0.539;0.603	T	0.17137	-1.0379	10	0.59425	D	0.04	-6.6117	15.258	0.73599	0.0:0.8592:0.1408:0.0	.	314;327;319;339	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	W	339;125;314;125	ENSP00000233575:R339W;ENSP00000441779:R125W;ENSP00000439208:R314W;ENSP00000442567:R125W	ENSP00000233575:R339W	R	+	1	2	SNX17	27452253	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.857000	0.55972	2.786000	0.95864	0.561000	0.74099	CGG		0.607	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		T	27598749	C	T	27598749	3	4	407	1	0	0	0	0	1	0	0	0	14894	643	23	1	1057	1	SNX17	2	27598749	Missense_Mutation	SNP	C	TCGA-BP-4998-01A-01D-1462-08		27598749	215600624	3	22410											
NPHP1	4867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	110919218	110919218	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr2:110919218C>T	ENST00000393272.3	-	10	1178	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	NPHP1_ENST00000417665.1_Missense_Mutation_p.A305T|NPHP1_ENST00000316534.4_Missense_Mutation_p.A362T|NPHP1_ENST00000445609.2_Missense_Mutation_p.A306T|NPHP1_ENST00000355301.4_Missense_Mutation_p.A243T	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	361					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.A362T(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TCTCTGAAGGCCAGTTGTGAA	0.358																																																1	Substitution - Missense(1)	kidney(1)											91	88	89					2																	110919218		2203	4300	6503	SO:0001583	missense	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1081G>A	2.37:g.110919218C>T	ENSP00000376953:p.Ala361Thr		O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028498	0.54790	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.32	3.5	0.40072	.	0.116998	0.64402	D	0.000018	T	0.80121	0.4565	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.69078	0.966;0.994;0.98;0.997;0.98;0.996	P;P;P;P;P;D	0.64776	0.577;0.874;0.758;0.874;0.758;0.929	T	0.78831	-0.2049	10	0.66056	D	0.02	-4.9014	8.4764	0.33016	0.153:0.765:0.0:0.082	.	305;305;243;361;306;362	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	T	362;306;361;243;305	ENSP00000313169:A362T;ENSP00000389879:A306T;ENSP00000376953:A361T;ENSP00000347452:A243T;ENSP00000402176:A305T	ENSP00000313169:A362T	A	-	1	0	NPHP1	110276507	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	3.605000	0.54088	0.609000	0.30018	-0.319000	0.08680	GCC		0.358	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		T	110919218	C	T	110919218	3	4	407	1	0	0	0	0	1	0	0	0	10581	739	26	2	1161	2	NPHP1	2	110919218	Missense_Mutation	SNP	C	TCGA-BP-4998-01A-01D-1462-08	83320469	110919218	132280155	4	22411											
SLC4A10	57282	broad.mit.edu;hgsc.bcm.edu	37	2	162730485	162730485	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr2:162730485A>C	ENST00000446997.1	+	8	1011	c.918A>C	c.(916-918)gaA>gaC	p.E306D	SLC4A10_ENST00000375514.5_Intron|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E306D|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Intron|SLC4A10_ENST00000535165.1_Missense_Mutation_p.E306D|SLC4A10_ENST00000272716.5_Intron	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	306					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.E306D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AAAGGCATGAAAAAGGACCTC	0.478																																																1	Substitution - Missense(1)	kidney(1)											33	29	30					2																	162730485		876	1991	2867	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.918A>C	2.37:g.162730485A>C	ENSP00000393066:p.Glu306Asp		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334291	0.24253	.	.	ENSG00000144290	ENST00000535165;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T	0.79454	-1.27;-1.27;-1.27	5.79	2.05	0.26809	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.469748	0.21521	N	0.073215	T	0.55970	0.1954	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.29640	-1.0005	10	0.23891	T	0.37	.	5.5782	0.17235	0.6949:0.1498:0.1553:0.0	.	306;306	E7EW28;Q6U841	.;S4A10_HUMAN	D	306;306;306;305	ENSP00000437527:E306D;ENSP00000393066:E306D;ENSP00000404486:E306D	ENSP00000387716:E305D	E	+	3	2	SLC4A10	162438731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.200000	0.32247	0.105000	0.17753	0.482000	0.46254	GAA		0.478	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		C	162730485	A	C	162730485	3	2	407	1	0	0	0	0	1	0	0	0	14657	11	1	5	1033	5	SLC4A10	2	162730485	Missense_Mutation	SNP	A	TCGA-BP-4998-01A-01D-1462-08	51811267	162730485	80468888	5	22412											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179598118	179598118	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr2:179598118A>T	ENST00000591111.1	-	52	15175	c.14951T>A	c.(14950-14952)tTg>tAg	p.L4984*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.L5301*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.L4057*|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12363	Ig-like 30.				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)	p.L4057*(1)		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)			ACTGGCGACCAAGGGTCTCCC	0.478																																																1	Substitution - Nonsense(1)	kidney(1)											122	120	121					2																	179598118		1866	4117	5983	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14951T>A	2.37:g.179598118A>T	ENSP00000465570:p.Leu4984*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	55	23.886511	0.99957	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.254	0.82501	1.0:0.0:0.0:0.0	.	.	.	.	X	4057	.	ENSP00000343764:L4057X	L	-	2	0	TTN	179306363	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.335000	0.96500	2.232000	0.73038	0.533000	0.62120	TTG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179598118	A	T	179598118	4	4	407	1	0	0	0	0	0	1	0	0	16740	131	5	5	88863	5	TTN	2	179598118	Nonsense_Mutation	SNP	A	TCGA-BP-4998-01A-01D-1462-08	16867633	179598118	63601255	6	22413											
WNT10A	80326	hgsc.bcm.edu	37	2	219746998	219746998	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr2:219746998C>T	ENST00000258411.3	+	2	862	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	77					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R77C(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGTGTGTGCGTCACCCTGA	0.612																																																1	Substitution - Missense(1)	lung(1)											94	87	90					2																	219746998		2203	4300	6503	SO:0001583	missense	80326			AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"Wingless-type MMTV integration sites"	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.229C>T	2.37:g.219746998C>T	ENSP00000258411:p.Arg77Cys		Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	CCDS2426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.973432|3.973432	0.74246|0.74246	.|.	.|.	ENSG00000135925|ENSG00000135925	ENST00000458582|ENST00000258411	.|T	.|0.77098	.|-1.07	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90645|0.90645	0.7066|0.7066	M|M	0.92412|0.92412	3.305|3.305	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	D|D	0.93041|0.93041	0.6457|0.6457	5|10	.|0.72032	.|D	.|0.01	.|.	16.8977|16.8977	0.86105|0.86105	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|77	.|Q9GZT5	.|WN10A_HUMAN	V|C	39|77	.|ENSP00000258411:R77C	.|ENSP00000258411:R77C	A|R	+|+	2|1	0|0	WNT10A|WNT10A	219455242|219455242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	3.423000|3.423000	0.52756|0.52756	2.230000|2.230000	0.72887|0.72887	0.462000|0.462000	0.41574|0.41574	GCG|CGT		0.612	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		T	219746998	C	T	219746998	3	4	407	1	0	0	0	0	1	0	0	0	17387	768	27	1	235	1	WNT10A	2	219746998	Missense_Mutation	SNP	C	TCGA-BP-4998-01A-01D-1462-08	40148880	219746998	23452375	7	22414											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188315	10188315	+	Missense_Mutation	SNP	T	T	C	rs193922611		TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr3:10188315T>C	ENST00000256474.2	+	2	1298	c.458T>C	c.(457-459)cTg>cCg	p.L153P	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	153	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L153P(5)|p.?(2)|p.L153fs*4(1)|p.?fs(1)|p.P154fs*2(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AATATCACACTGCCAGGTACT	0.403		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Substitution - Missense(5)|Deletion - Frameshift(2)|Insertion - Frameshift(2)|Unknown(2)	kidney(11)											182	172	175					3																	10188315		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.458T>C	3.37:g.10188315T>C	ENSP00000256474:p.Leu153Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930995	0.73327	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99848	-7.14	4.79	4.79	0.61399	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000001	D	0.99715	0.9890	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97136	0.9821	10	0.72032	D	0.01	0.5194	12.5822	0.56397	0.0:0.0:0.0:1.0	.	153	P40337	VHL_HUMAN	P	153;71	ENSP00000256474:L153P	ENSP00000256474:L153P	L	+	2	0	VHL	10163315	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.968000	0.70413	1.928000	0.55862	0.460000	0.39030	CTG		0.403	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10188315	T	C	10188315	3	2	407	1	0	0	0	0	1	0	0	0	17167	1580	55	3	464	3	VHL	3	10188315	Missense_Mutation	SNP	T	TCGA-BP-4998-01A-01D-1462-08		10188315	187834115	8	22415											
NBEAL2	23218	broad.mit.edu	37	3	47043759	47043759	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr3:47043759G>A	ENST00000450053.3	+	31	5311	c.5132G>A	c.(5131-5133)cGc>cAc	p.R1711H	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1527H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1711					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R1088H(1)|p.R1711H(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGAATGGCGCCACTTCATC	0.627																																																2	Substitution - Missense(2)	kidney(2)											34	33	33					3																	47043759		1973	4159	6132	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5132G>A	3.37:g.47043759G>A	ENSP00000415034:p.Arg1711His		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.983673|3.983673	0.74474|0.74474	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	.|T;T	.|0.58210	.|0.37;0.35	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	.|0.139864	.|0.47093	.|D	.|0.000258	T|T	0.66479|0.66479	0.2793|0.2793	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.997	.|P;P	.|0.61722	.|0.847;0.893	T|T	0.69738|0.69738	-0.5064|-0.5064	5|10	.|0.54805	.|T	.|0.06	.|.	15.6046|15.6046	0.76652|0.76652	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1527;1711	.|Q6ZNJ1-2;Q6ZNJ1	.|.;NBEL2_HUMAN	T|H	999|1527;1711	.|ENSP00000292309:R1527H;ENSP00000415034:R1711H	.|ENSP00000292309:R1527H	A|R	+|+	1|2	0|0	NBEAL2|NBEAL2	47018763|47018763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.172000|4.172000	0.58243|0.58243	2.257000|2.257000	0.74773|0.74773	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		A	47043759	G	A	47043759	3	1	407	1	0	0	0	0	1	0	0	0	10191	1087	38	1	5254	1	NBEAL2	3	47043759	Missense_Mutation	SNP	G	TCGA-BP-4998-01A-01D-1462-08	36855444	47043759	150978671	9	22416											
ALAS1	211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52236547	52236547	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr3:52236547T>C	ENST00000394965.2	+	4	584	c.224T>C	c.(223-225)gTc>gCc	p.V75A	ALAS1_ENST00000310271.2_Missense_Mutation_p.V75A|ALAS1_ENST00000469224.1_Missense_Mutation_p.V75A|ALAS1_ENST00000484952.1_Missense_Mutation_p.V75A	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	75					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.V75A(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AAGGCCAAGGTCCAACAGACT	0.493																																																1	Substitution - Missense(1)	kidney(1)											70	72	71					3																	52236547		2203	4300	6503	SO:0001583	missense	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.224T>C	3.37:g.52236547T>C	ENSP00000378416:p.Val75Ala			Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	T	8.607	0.888150	0.17540	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000441729;ENST00000310271;ENST00000484952	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.09	-1.79	0.07932	.	0.861284	0.10187	N	0.705160	D	0.90397	0.6994	N	0.22421	0.69	0.23331	N	0.997896	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80291	-0.1444	10	0.10377	T	0.69	-3.7532	5.2087	0.15304	0.0:0.3225:0.2739:0.4036	.	92;75	B4DVA0;P13196	.;HEM1_HUMAN	A	75	ENSP00000417719:V75A;ENSP00000378416:V75A;ENSP00000309259:V75A;ENSP00000418779:V75A	ENSP00000309259:V75A	V	+	2	0	ALAS1	52211587	0.388000	0.25197	0.050000	0.19076	0.987000	0.75469	0.129000	0.15830	-0.313000	0.08728	0.533000	0.62120	GTC		0.493	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			C	52236547	T	C	52236547	3	2	407	1	0	0	0	0	1	0	0	0	484	1667	58	3	230	3	ALAS1	3	52236547	Missense_Mutation	SNP	T	TCGA-BP-4998-01A-01D-1462-08	5192788	52236547	145785883	10	22417											
KNG1	3827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186459690	186459690	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr3:186459690G>A	ENST00000265023.4	+	10	1717	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	502	His-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.G502D(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CATGGTCATGGCCACGGAAAA	0.423																																																1	Substitution - Missense(1)	kidney(1)											54	51	52					3																	186459690		1974	4148	6122	SO:0001583	missense	3827				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1505G>A	3.37:g.186459690G>A	ENSP00000265023:p.Gly502Asp		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714753	0.30413	.	.	ENSG00000113889	ENST00000265023	T	0.50277	0.75	5.33	2.54	0.30619	.	0.454556	0.18855	N	0.129299	T	0.39384	0.1076	M	0.68952	2.095	0.80722	D	1	B	0.32829	0.386	B	0.25884	0.064	T	0.12268	-1.0554	9	.	.	.	-1.6955	7.8129	0.29241	0.2652:0.0:0.7348:0.0	.	502	P01042	KNG1_HUMAN	D	502	ENSP00000265023:G502D	.	G	+	2	0	KNG1	187942384	1.000000	0.71417	0.091000	0.20842	0.100000	0.18952	3.506000	0.53364	0.329000	0.23460	0.655000	0.94253	GGC		0.423	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		A	186459690	G	A	186459690	3	1	407	1	0	0	0	0	1	0	0	0	8429	1203	42	2	1543	2	KNG1	3	186459690	Missense_Mutation	SNP	G	TCGA-BP-4998-01A-01D-1462-08	134223143	186459690	11562740	11	22418											
RREB1	6239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7230362	7230362	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr6:7230362A>T	ENST00000349384.6	+	10	2344	c.2030A>T	c.(2029-2031)gAc>gTc	p.D677V	RREB1_ENST00000379938.2_Missense_Mutation_p.D677V|RREB1_ENST00000379933.3_Missense_Mutation_p.D677V|RREB1_ENST00000334984.6_Missense_Mutation_p.D677V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	677					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D677V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AACATCTGCGACTACATCGCC	0.637																																																2	Substitution - Missense(2)	kidney(2)											53	49	50					6																	7230362		2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2030A>T	6.37:g.7230362A>T	ENSP00000305560:p.Asp677Val		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464308	0.63513	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000004	T	0.29914	0.0748	L	0.58969	1.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.988	T	0.03981	-1.0987	10	0.87932	D	0	-65.0206	15.3726	0.74577	1.0:0.0:0.0:0.0	.	677;677;677	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	677	ENSP00000369265:D677V;ENSP00000369270:D677V;ENSP00000305560:D677V;ENSP00000335574:D677V;ENSP00000419511:D677V	ENSP00000335574:D677V	D	+	2	0	RREB1	7175361	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.572000	0.67411	2.209000	0.71365	0.533000	0.62120	GAC		0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			T	7230362	A	T	7230362	3	4	407	1	0	0	0	0	1	0	0	0	13685	275	10	5	2056	5	RREB1	6	7230362	Missense_Mutation	SNP	A	TCGA-BP-4998-01A-01D-1462-08		7230362	163884705	12	22419											
C6orf62	81688	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24714642	24714642	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr6:24714642C>T	ENST00000378119.4	-	3	2500	c.333G>A	c.(331-333)atG>atA	p.M111I	C6orf62_ENST00000378102.3_Missense_Mutation_p.M82I|C6orf62_ENST00000540769.1_Missense_Mutation_p.M53I	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	111						intracellular (GO:0005622)		p.M111I(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GAATGAAATCCATCTCCTGAG	0.348																																																1	Substitution - Missense(1)	kidney(1)											70	72	71					6																	24714642		2203	4300	6503	SO:0001583	missense	81688			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"HBV X-transactivated protein 12"					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.333G>A	6.37:g.24714642C>T	ENSP00000367359:p.Met111Ile		Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402264	0.62288	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.28255	1.62;1.62;1.62	5.78	4.86	0.63082	.	0.033597	0.85682	D	0.000000	T	0.11239	0.0274	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03068	-1.1076	10	0.41790	T	0.15	-12.8086	16.6587	0.85235	0.0:0.8705:0.1295:0.0	.	111	Q9GZU0	CF062_HUMAN	I	111;53;82	ENSP00000367359:M111I;ENSP00000446225:M53I;ENSP00000367342:M82I	ENSP00000367342:M82I	M	-	3	0	C6orf62	24822621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.968000	0.70413	2.894000	0.99253	0.591000	0.81541	ATG		0.348	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		T	24714642	C	T	24714642	3	4	407	1	0	0	0	0	1	0	0	0	2370	594	21	2	368	2	C6orf62	6	24714642	Missense_Mutation	SNP	C	TCGA-BP-4998-01A-01D-1462-08	17484280	24714642	146400425	13	22420											
TDRD6	221400	broad.mit.edu;ucsc.edu	37	6	46657418	46657418	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr6:46657418G>T	ENST00000316081.6	+	1	1553	c.1553G>T	c.(1552-1554)aGg>aTg	p.R518M	RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.R518M|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	518					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.R518M(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGCTGATGAGGAGAATGTGT	0.418																																																1	Substitution - Missense(1)	kidney(1)											128	122	124					6																	46657418		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1553G>T	6.37:g.46657418G>T	ENSP00000346065:p.Arg518Met		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697019	0.30142	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10763	2.84;2.84	5.88	1.97	0.26223	Maternal tudor protein (1);	0.758186	0.13349	N	0.394549	T	0.09862	0.0242	L	0.45581	1.43	0.09310	N	1	D;D	0.58970	0.98;0.984	P;P	0.62649	0.804;0.905	T	0.14282	-1.0478	10	0.48119	T	0.1	-11.4376	8.7561	0.34645	0.5691:0.0:0.4309:0.0	.	518;518	F5H5M3;O60522	.;TDRD6_HUMAN	M	518	ENSP00000443299:R518M;ENSP00000346065:R518M	ENSP00000346065:R518M	R	+	2	0	TDRD6	46765377	0.113000	0.22115	0.011000	0.14972	0.799000	0.45148	0.711000	0.25764	0.066000	0.16515	0.655000	0.94253	AGG		0.418	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		T	46657418	G	T	46657418	3	4	407	1	0	0	0	0	1	0	0	0	15739	1000	35	4	1555	4	TDRD6	6	46657418	Missense_Mutation	SNP	G	TCGA-BP-4998-01A-01D-1462-08	21942776	46657418	124457649	14	22421											
PHF3	23469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	64416765	64416765	+	Splice_Site	SNP	A	A	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr6:64416765A>G	ENST00000262043.3	+	13	4050	c.3710A>G	c.(3709-3711)gAg>gGg	p.E1237G	PHF3_ENST00000393387.1_Splice_Site_p.E1237G			Q92576	PHF3_HUMAN	PHD finger protein 3	1237					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E1237G(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TACCTGACAGAGGTACTGTGA	0.373																																					GBM(135;136 1820 29512 34071 46235)											1	Substitution - Missense(1)	kidney(1)											111	106	108					6																	64416765		2203	4300	6503	SO:0001630	splice_region_variant	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3711+1A>G	6.37:g.64416765A>G			A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.46|19.46	3.830846|3.830846	0.71258|0.71258	.|.	.|.	ENSG00000118482|ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387|ENST00000505138	T;T;T;T|.	0.50277|.	1.93;0.75;2.02;2.02|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Spen paralogue and orthologue SPOC, C-terminal (1);|.	0.000000|.	0.40144|.	N|.	0.001168|.	T|T	0.62901|0.62901	0.2466|0.2466	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.81914|.	0.995|.	T|T	0.62695|0.62695	-0.6800|-0.6800	10|5	0.72032|.	D|.	0.01|.	-18.1909|-18.1909	16.1304|16.1304	0.81428|0.81428	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1237|.	Q92576|.	PHF3_HUMAN|.	G|G	1051;506;1237;1237|26	ENSP00000424694:E1051G;ENSP00000425338:E506G;ENSP00000262043:E1237G;ENSP00000377048:E1237G|.	ENSP00000262043:E1237G|.	E|R	+|+	2|1	0|2	PHF3|PHF3	64474724|64474724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.370000|7.370000	0.79589|0.79589	2.202000|2.202000	0.70862|0.70862	0.482000|0.482000	0.46254|0.46254	GAG|AGG		0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		Missense_Mutation	G	64416765	A	G	64416765	5	3	407	1	0	0	0	0	0	0	1	0	11838	318	11	3	3756	3	PHF3	6	64416765	Splice_Site	SNP	A	TCGA-BP-4998-01A-01D-1462-08	17759347	64416765	106698302	15	22422											
LRP11	84918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150174138	150174138	+	Splice_Site	SNP	C	C	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr6:150174138C>A	ENST00000239367.2	-	2	777		c.e2+1		LRP11_ENST00000367368.2_Splice_Site|LRP11_ENST00000546019.1_Splice_Site|RP11-350J20.12_ENST00000472053.2_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11							integral component of membrane (GO:0016021)		p.?(1)		cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		ACATGCGTTACCTTCATGTCC	0.522																																																1	Unknown(1)	kidney(1)											88	80	83					6																	150174138		2203	4300	6503	SO:0001630	splice_region_variant	84918			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.771+1G>T	6.37:g.150174138C>A			Q5VYC0|Q96SN6	Splice_Site	SNP	ENST00000239367.2	37	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187334	0.78789	.	.	ENSG00000120256	ENST00000239367;ENST00000546019;ENST00000367368	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2004	0.82067	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP11	150215831	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	6.968000	0.76086	2.562000	0.86427	0.591000	0.81541	.		0.522	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832	Intron	A	150174138	C	A	150174138	5	1	407	1	0	0	0	0	0	0	1	0	8955	521	18	4	754	4	LRP11	6	150174138	Splice_Site	SNP	C	TCGA-BP-4998-01A-01D-1462-08	85757373	150174138	20940929	16	22423											
PPP1R3A	5506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	113559039	113559039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr7:113559039C>A	ENST00000284601.3	-	1	81	c.13G>T	c.(13-15)Gaa>Taa	p.E5*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	5					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.E5*(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTAGGTACTTCAGAAGGCTCC	0.363																																																1	Substitution - Nonsense(1)	kidney(1)											34	35	35					7																	113559039		2016	4202	6218	SO:0001587	stop_gained	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.13G>T	7.37:g.113559039C>A	ENSP00000284601:p.Glu5*		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	38	6.664742	0.97747	.	.	ENSG00000154415	ENST00000284601	.	.	.	6.17	5.29	0.74685	.	0.111362	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.327	0.74172	0.0:0.9337:0.0:0.0663	.	.	.	.	X	5	.	ENSP00000284601:E5X	E	-	1	0	PPP1R3A	113346275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.137000	0.58010	1.620000	0.50308	0.655000	0.94253	GAA		0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113559039	C	A	113559039	4	1	407	1	0	0	0	0	0	1	0	0	12376	835	29	4	3371	4	PPP1R3A	7	113559039	Nonsense_Mutation	SNP	C	TCGA-BP-4998-01A-01D-1462-08		113559039	45579624	17	22424											
PARP12	64761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	139724549	139724549	+	Silent	SNP	G	G	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr7:139724549G>C	ENST00000263549.3	-	12	2790	c.1917C>G	c.(1915-1917)gcC>gcG	p.A639A		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	639	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.A639A(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AGCCCTCCTTGGCCGGCGGAC	0.582																																																1	Substitution - coding silent(1)	kidney(1)											114	97	103					7																	139724549		2203	4300	6503	SO:0001819	synonymous_variant	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1917C>G	7.37:g.139724549G>C			Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	CCDS5857.1																																																																																				0.582	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		C	139724549	G	C	139724549	2	2	407	1	0	0	0	0	0	0	0	1	11459	1335	47	4		4	PARP12	7	139724549	Silent	SNP	G	TCGA-BP-4998-01A-01D-1462-08	26165510	139724549	19414114	18	22425											
NKAIN3	286183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	63492147	63492147	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr8:63492147C>G	ENST00000523211.1	+	2	236	c.104C>G	c.(103-105)gCg>gGg	p.A35G	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.A35G	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A35G(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TTCCAGTGGGCGCCTATTCTT	0.383																																																1	Substitution - Missense(1)	kidney(1)											174	169	170					8																	63492147		1839	4089	5928	SO:0001583	missense	286183			AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"Na+/K+ transporting ATPase interacting"	26829	protein-coding gene	gene with protein product		612872	"family with sequence similarity 77, member D"	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.104C>G	8.37:g.63492147C>G	ENSP00000429073:p.Ala35Gly			Missense_Mutation	SNP	ENST00000523211.1	37	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219086	0.39201	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000524201;ENST00000328472	T;T;T	0.19669	2.13;2.13;2.13	6.01	4.21	0.49690	.	0.000000	0.64402	D	0.000001	T	0.27832	0.0685	M	0.77313	2.365	0.58432	D	0.999994	P	0.36392	0.551	B	0.36922	0.236	T	0.04650	-1.0936	10	0.56958	D	0.05	-23.7165	11.3653	0.49668	0.0:0.8055:0.1266:0.0679	.	35	Q8N8D7	NKAI3_HUMAN	G	35	ENSP00000429073:A35G;ENSP00000429393:A35G;ENSP00000333627:A35G	ENSP00000333627:A35G	A	+	2	0	NKAIN3	63654701	1.000000	0.71417	0.737000	0.30932	0.014000	0.08584	7.805000	0.86005	0.870000	0.35726	-0.181000	0.13052	GCG		0.383	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		G	63492147	C	G	63492147	3	3	407	1	0	0	0	0	1	0	0	0	10439	768	27	4	110	4	NKAIN3	8	63492147	Missense_Mutation	SNP	C	TCGA-BP-4998-01A-01D-1462-08		63492147	82871875	19	22426											
ABL1	25	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133760875	133760875	+	Silent	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr9:133760875C>T	ENST00000318560.5	+	11	3579	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1066	F-actin-binding.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.F1066F(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCTACACGTTCTGCGTGAGCT	0.552			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Substitution - coding silent(1)	kidney(1)											80	82	82					9																	133760875		2203	4300	6503	SO:0001819	synonymous_variant	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3198C>T	9.37:g.133760875C>T			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																				0.552	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		T	133760875	C	T	133760875	2	4	407	1	0	0	0	0	0	0	0	1	92	912	32	2		2	ABL1	9	133760875	Silent	SNP	C	TCGA-BP-4998-01A-01D-1462-08		133760875	7452556	20	22427											
ANO9	338440	broad.mit.edu;ucsc.edu	37	11	430378	430378	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr11:430378G>T	ENST00000332826.6	-	8	649	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	189					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.L189M(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ACGAAGTACAGGGCCACCTTT	0.632																																																1	Substitution - Missense(1)	kidney(1)											22	25	24					11																	430378		2192	4291	6483	SO:0001583	missense	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.565C>A	11.37:g.430378G>T	ENSP00000332788:p.Leu189Met		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480414	0.44044	.	.	ENSG00000185101	ENST00000332826	T	0.67171	-0.25	4.21	3.29	0.37713	.	0.105490	0.36854	N	0.002363	T	0.76300	0.3968	M	0.64404	1.975	0.34141	D	0.666381	D	0.76494	0.999	D	0.72338	0.977	T	0.81470	-0.0918	10	0.46703	T	0.11	.	11.7486	0.51835	0.1468:0.0:0.8532:0.0	.	189	A1A5B4	ANO9_HUMAN	M	189	ENSP00000332788:L189M	ENSP00000332788:L189M	L	-	1	2	ANO9	420378	0.921000	0.31238	0.975000	0.42487	0.452000	0.32318	1.395000	0.34520	2.379000	0.81126	0.479000	0.44913	CTG		0.632	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		T	430378	G	T	430378	3	4	407	1	0	0	0	0	1	0	0	0	704	991	35	4	1847	4	ANO9	11	430378	Missense_Mutation	SNP	G	TCGA-BP-4998-01A-01D-1462-08		430378	134576138	21	22428											
OSBP	5007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	59361486	59361486	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr11:59361486T>G	ENST00000263847.1	-	8	2033	c.1554A>C	c.(1552-1554)gaA>gaC	p.E518D	MIR3162_ENST00000581818.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	518					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)	p.E518D(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTTTACCTGTTCACAGAGGG	0.463																																																1	Substitution - Missense(1)	kidney(1)											47	47	47					11																	59361486		2201	4295	6496	SO:0001583	missense	5007			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1554A>C	11.37:g.59361486T>G	ENSP00000263847:p.Glu518Asp		Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	t	21.2	4.117427	0.77323	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	D	0.96427	-4.01	5.91	1.84	0.25277	Oxysterol-binding protein, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97934	1.0322	10	0.87932	D	0	-27.1622	10.0943	0.42466	0.0:0.7052:0.0:0.2948	.	518	P22059	OSBP1_HUMAN	D	518;118	ENSP00000263847:E518D	ENSP00000263847:E518D	E	-	3	2	OSBP	59118062	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	0.811000	0.27198	0.368000	0.24481	-1.158000	0.01797	GAA		0.463	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			G	59361486	T	G	59361486	3	3	407	1	0	0	0	0	1	0	0	0	11275	1722	60	5	897	5	OSBP	11	59361486	Missense_Mutation	SNP	T	TCGA-BP-4998-01A-01D-1462-08	58931108	59361486	75645030	22	22429											
CASC1	55259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	25264775	25264775	+	Silent	SNP	A	A	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr12:25264775A>T	ENST00000320267.9	-	13	1773	c.1692T>A	c.(1690-1692)gcT>gcA	p.A564A	CASC1_ENST00000557684.1_5'Flank|CASC1_ENST00000395990.2_Silent_p.A524A|CASC1_ENST00000537577.1_Silent_p.A452A|CASC1_ENST00000395987.3_Silent_p.A570A|CASC1_ENST00000545133.1_Silent_p.A505A|CASC1_ENST00000354189.5_Silent_p.A628A	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	564								p.A628A(1)|p.A570A(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CTTCTTTCAAAGCAATAATGA	0.328																																																2	Substitution - coding silent(2)	kidney(2)											86	86	86					12																	25264775		2203	4296	6499	SO:0001819	synonymous_variant	55259			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1692T>A	12.37:g.25264775A>T			B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Silent	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	A	2.342	-0.350847	0.05173	.	.	ENSG00000118307	ENST00000556006	.	.	.	5.09	-1.51	0.08664	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.27706	-1.0066	4	.	.	.	-15.2884	1.0466	0.01571	0.4619:0.1498:0.2439:0.1443	.	.	.	.	I	401	.	.	F	-	1	0	CASC1	25156042	0.834000	0.29399	0.456000	0.27044	0.225000	0.24961	0.704000	0.25661	-0.186000	0.10533	0.528000	0.53228	TTT		0.328	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		T	25264775	A	T	25264775	2	4	407	1	0	0	0	0	0	0	0	1	2662	59	3	5		5	CASC1	12	25264775	Silent	SNP	A	TCGA-BP-4998-01A-01D-1462-08		25264775	108587120	23	22430											
RPLP0	6175	broad.mit.edu;hgsc.bcm.edu	37	12	120636946	120636946	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr12:120636946A>C	ENST00000551150.1	-	3	608	c.293T>G	c.(292-294)aTc>aGc	p.I98S	PXN-AS1_ENST00000542314.1_RNA|RPLP0_ENST00000228306.4_Missense_Mutation_p.I98S|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000552292.1_5'Flank|RPLP0_ENST00000546989.1_Missense_Mutation_p.I98S|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000392514.4_Missense_Mutation_p.I98S|RPLP0_ENST00000313104.5_Missense_Mutation_p.I98S|RPLP0_ENST00000550296.1_5'UTR			P05388	RLA0_HUMAN	ribosomal protein, large, P0	98					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.I98S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATGTCCCTGATCTCAGTGAG	0.473																																																1	Substitution - Missense(1)	kidney(1)											98	95	96					12																	120636946		2203	4300	6503	SO:0001583	missense	6175			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.293T>G	12.37:g.120636946A>C	ENSP00000449328:p.Ile98Ser		Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.926632	0.92319	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000313104;ENST00000546989;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856;ENST00000547191;ENST00000550423;ENST00000551914	T;T;T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.34	5.34	0.76211	.	0.159245	0.44285	U	0.000476	T	0.72708	0.3494	M	0.89095	3.005	0.48571	D	0.999672	D;D	0.69078	0.997;0.994	D;D	0.68483	0.957;0.958	T	0.79329	-0.1848	10	0.87932	D	0	.	15.3337	0.74234	1.0:0.0:0.0:0.0	.	98;98	Q3B7A4;P05388	.;RLA0_HUMAN	S	98;98;98;98;98;98;78;98;84;84;98	ENSP00000376299:I98S;ENSP00000449328:I98S;ENSP00000366471:I98S;ENSP00000449205:I98S;ENSP00000339027:I98S;ENSP00000447311:I98S;ENSP00000449854:I78S;ENSP00000448046:I98S;ENSP00000450121:I84S;ENSP00000449765:I84S;ENSP00000448223:I98S	ENSP00000339027:I98S	I	-	2	0	RPLP0	119121329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.249000	0.95470	2.030000	0.59900	0.533000	0.62120	ATC		0.473	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		C	120636946	A	C	120636946	3	2	407	1	0	0	0	0	1	0	0	0	13610	333	12	5	680	5	RPLP0	12	120636946	Missense_Mutation	SNP	A	TCGA-BP-4998-01A-01D-1462-08	95372171	120636946	13214949	24	22431											
CENPJ	55835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25466970	25466970	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr13:25466970A>T	ENST00000381884.4	-	10	3212	c.3027T>A	c.(3025-3027)gaT>gaA	p.D1009E	CENPJ_ENST00000545981.1_Missense_Mutation_p.D1009E	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1009					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.D1009E(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCTTTTCAAATCTTCCCGTA	0.343																																																1	Substitution - Missense(1)	kidney(1)											155	151	152					13																	25466970		2203	4300	6503	SO:0001583	missense	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3027T>A	13.37:g.25466970A>T	ENSP00000371308:p.Asp1009Glu		Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.881|9.881	1.201581|1.201581	0.22121|0.22121	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729|ENST00000418179	T;T|.	0.30182|.	1.54;2.16|.	5.22|5.22	-2.21|-2.21	0.06973|0.06973	.|.	0.150048|.	0.64402|.	N|.	0.000013|.	T|T	0.20251|0.20251	0.0487|0.0487	N|N	0.25380|0.25380	0.74|0.74	0.25848|0.25848	N|N	0.983976|0.983976	B;B|.	0.17852|.	0.024;0.005|.	B;B|.	0.16722|.	0.016;0.008|.	T|T	0.28138|0.28138	-1.0053|-1.0053	10|5	0.02654|.	T|.	1|.	.|.	2.7311|2.7311	0.05227|0.05227	0.342:0.1328:0.3957:0.1296|0.342:0.1328:0.3957:0.1296	.|.	90;1009|.	Q5T6R6;Q9HC77|.	.;CENPJ_HUMAN|.	E|I	1009|91	ENSP00000371308:D1009E;ENSP00000441090:D1009E|.	ENSP00000371308:D1009E|.	D|F	-|-	3|1	2|0	CENPJ|CENPJ	24364970|24364970	0.152000|0.152000	0.22762|0.22762	0.963000|0.963000	0.40424|0.40424	0.984000|0.984000	0.73092|0.73092	0.494000|0.494000	0.22467|0.22467	-0.154000|-0.154000	0.11118|0.11118	0.454000|0.454000	0.30748|0.30748	GAT|TTT		0.343	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		T	25466970	A	T	25466970	3	4	407	1	0	0	0	0	1	0	0	0	3236	98	4	5	1021	5	CENPJ	13	25466970	Missense_Mutation	SNP	A	TCGA-BP-4998-01A-01D-1462-08		25466970	89702908	25	22432											
SLC12A6	9990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	34544539	34544539	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr15:34544539C>T	ENST00000354181.3	-	10	1657	c.1165G>A	c.(1165-1167)Gtt>Att	p.V389I	SLC12A6_ENST00000397707.2_Missense_Mutation_p.V374I|SLC12A6_ENST00000558589.1_Missense_Mutation_p.V380I|SLC12A6_ENST00000451844.2_Missense_Mutation_p.V201I|SLC12A6_ENST00000560164.1_Missense_Mutation_p.V201I|SLC12A6_ENST00000458406.2_Missense_Mutation_p.V330I|SLC12A6_ENST00000560611.1_Missense_Mutation_p.V389I|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558667.1_Missense_Mutation_p.V389I|SLC12A6_ENST00000397702.2_Missense_Mutation_p.V330I|SLC12A6_ENST00000290209.5_Missense_Mutation_p.V338I			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	389					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.V338I(1)|p.V380I(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TTAGAGCAAACGTCAATGTGT	0.393																																																2	Substitution - Missense(2)	kidney(2)											151	138	143					15																	34544539		2201	4298	6499	SO:0001583	missense	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1165G>A	15.37:g.34544539C>T	ENSP00000346112:p.Val389Ile		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	6.288	0.421233	0.11928	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.36	-4.89	0.03103	.	1.295740	0.05093	N	0.485635	T	0.47248	0.1435	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.10296	0.002;0.001;0.003;0.001	B;B;B;B	0.13407	0.009;0.002;0.001;0.001	T	0.41197	-0.9522	10	0.12430	T	0.62	.	15.134	0.72549	0.0:0.647:0.0:0.353	.	374;389;338;201	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	I	338;374;380;330;330;201	ENSP00000290209:V338I;ENSP00000380819:V374I;ENSP00000380814:V330I;ENSP00000387725:V330I;ENSP00000390199:V201I	ENSP00000290209:V338I	V	-	1	0	SLC12A6	32331831	0.000000	0.05858	0.003000	0.11579	0.960000	0.62799	-1.566000	0.02148	-1.214000	0.02614	-0.982000	0.02568	GTT		0.393	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		T	34544539	C	T	34544539	3	4	407	1	0	0	0	0	1	0	0	0	14393	536	19	1	2355	1	SLC12A6	15	34544539	Missense_Mutation	SNP	C	TCGA-BP-4998-01A-01D-1462-08		34544539	67986853	26	22433											
EID1	399694	broad.mit.edu	37	15	49170496	49170496	+	Intron	SNP	C	C	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr15:49170496C>A	ENST00000332408.4	-	4	1269				EID1_ENST00000558295.1_Intron|SHC4_ENST00000537958.1_5'Flank|SHC4_ENST00000396535.3_5'Flank|EID1_ENST00000530028.2_Silent_p.S41S|EID1_ENST00000560490.1_Intron	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.S41S(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GGGAGCTATCCCTGCGTCCCT	0.662																																																1	Substitution - coding silent(1)	kidney(1)											50	54	53					15																	49170496		2035	4173	6208	SO:0001627	intron_variant	23741			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.840+5948G>T	15.37:g.49170496C>A			Q6UXQ3|Q8IYW3	Silent	SNP	ENST00000332408.4	37	CCDS10130.1																																																																																				0.662	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		A	49170496	C	A	49170496	1	1	407	0	1	0	0	0	0	0	0	0	4988	610	22	4		4	EID1	15	49170496	Intron	SNP	C	TCGA-BP-4998-01A-01D-1462-08	14625957	49170496	53360896	27	22434											
SRRM2	23524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2817282	2817282	+	Silent	SNP	A	A	T	rs111703345		TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr16:2817282A>T	ENST00000301740.8	+	11	7302	c.6753A>T	c.(6751-6753)ccA>ccT	p.P2251P	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2251	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.P2251P(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTGCCATTCCAACAGCAGTGA	0.622																																																1	Substitution - coding silent(1)	kidney(1)											63	66	65					16																	2817282		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6753A>T	16.37:g.2817282A>T			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2817282	A	T	2817282	2	4	407	1	0	0	0	0	0	0	0	1	15174	117	5	5		5	SRRM2	16	2817282	Silent	SNP	A	TCGA-BP-4998-01A-01D-1462-08		2817282	87537471	28	22435											
BRCA1	672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41197795	41197795	+	Missense_Mutation	SNP	G	G	A	rs80357582|rs587782778		TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr17:41197795G>A	ENST00000357654.3	-	23	5610	c.5492C>T	c.(5491-5493)cCt>cTt	p.P1831L	BRCA1_ENST00000346315.3_Missense_Mutation_p.P1592L|BRCA1_ENST00000491747.2_Missense_Mutation_p.P727L|BRCA1_ENST00000591534.1_Missense_Mutation_p.P322L|BRCA1_ENST00000351666.3_Missense_Mutation_p.P648L|BRCA1_ENST00000352993.3_Missense_Mutation_p.P689L|BRCA1_ENST00000591849.1_Missense_Mutation_p.P64L|BRCA1_ENST00000309486.4_Missense_Mutation_p.P1535L|BRCA1_ENST00000354071.3_Missense_Mutation_p.P1566L|BRCA1_ENST00000468300.1_3'UTR|BRCA1_ENST00000471181.2_Missense_Mutation_p.P1852L|BRCA1_ENST00000586385.1_Missense_Mutation_p.P141L|BRCA1_ENST00000493795.1_Missense_Mutation_p.P1784L	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1831	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P1831L(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGTCACCACAGGTGCCTCACA	0.532			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Missense(1)	kidney(1)	GRCh37	CD992736	BRCA1	D	rs80357582						100	84	89					17																	41197795		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5492C>T	17.37:g.41197795G>A	ENSP00000350283:p.Pro1831Leu		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	9.738	1.164166	0.21538	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747	D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.32	4.33	0.51752	BRCT (4);	0.255410	0.28225	N	0.016122	T	0.81898	0.4920	L	0.27053	0.805	0.30792	N	0.740831	P;B;D;D;D;D	0.71674	0.945;0.003;0.994;0.998;0.998;0.997	P;B;P;D;D;D	0.70227	0.6;0.002;0.902;0.968;0.968;0.946	T	0.81180	-0.1050	10	0.66056	D	0.02	.	11.5356	0.50634	0.0:0.1884:0.8116:0.0	.	680;141;726;1853;1831;1831	B4DES0;C6YB45;E7ETR2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	L	1831;1852;1566;689;1592;648;1535;680;1853;1784;726	ENSP00000350283:P1831L;ENSP00000326002:P1566L;ENSP00000312236:P689L;ENSP00000246907:P1592L;ENSP00000338007:P648L;ENSP00000310938:P1535L;ENSP00000377294:P680L;ENSP00000418775:P1784L	ENSP00000310938:P1535L	P	-	2	0	BRCA1	38451321	0.021000	0.18746	0.461000	0.27105	0.960000	0.62799	1.164000	0.31810	1.438000	0.47492	0.563000	0.77884	CCT		0.532	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		A	41197795	G	A	41197795	3	1	407	1	0	0	0	0	1	0	0	0	1500	1000	35	2	103	2	BRCA1	17	41197795	Missense_Mutation	SNP	G	TCGA-BP-4998-01A-01D-1462-08		41197795	39997415	29	22436											
AZI1	22994	broad.mit.edu;ucsc.edu	37	17	79180636	79180636	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr17:79180636A>T	ENST00000269392.4	-	5	670	c.423T>A	c.(421-423)aaT>aaA	p.N141K	AZI1_ENST00000450824.2_Missense_Mutation_p.N141K|AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000575907.1_Missense_Mutation_p.N141K|AZI1_ENST00000374782.3_Missense_Mutation_p.N141K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		141					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.N141K(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AACTCCGGGCATTGGATGGCA	0.637																																																2	Substitution - Missense(2)	kidney(2)											62	72	68					17																	79180636		2203	4300	6503	SO:0001583	missense	22994																														ENST00000269392.4:c.423T>A	17.37:g.79180636A>T	ENSP00000269392:p.Asn141Lys		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37		.	.	.	.	.	.	.	.	.	.	a	17.92	3.506408	0.64410	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.13901	2.55;2.55;2.55	4.52	-8.54	0.00912	.	0.797754	0.10715	N	0.642464	T	0.05914	0.0154	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.25169	0.0;0.0;0.0;0.119	B;B;B;B	0.21917	0.001;0.001;0.001;0.037	T	0.28554	-1.0040	10	0.40728	T	0.16	-6.3254	4.4472	0.11604	0.5073:0.0965:0.2988:0.0974	.	141;141;141;141	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	141	ENSP00000393583:N141K;ENSP00000363914:N141K;ENSP00000269392:N141K	ENSP00000269392:N141K	N	-	3	2	AZI1	76795231	0.000000	0.05858	0.000000	0.03702	0.692000	0.40212	-0.596000	0.05720	-1.379000	0.02118	0.316000	0.21350	AAT		0.637	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			T	79180636	A	T	79180636	3	4	407	1	0	0	0	0	1	0	0	0	1240	214	8	5	2907	5	AZI1	17	79180636	Missense_Mutation	SNP	A	TCGA-BP-4998-01A-01D-1462-08	37982841	79180636	2014574	30	22437											
C3	718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6681963	6681963	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr19:6681963A>G	ENST00000245907.6	-	35	4431	c.4339T>C	c.(4339-4341)Tac>Cac	p.Y1447H	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1447	Properdin-binding.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.Y1447H(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TTGTCCAGGTAGATGATGAGG	0.527																																																1	Substitution - Missense(1)	kidney(1)											179	164	169					19																	6681963		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4339T>C	19.37:g.6681963A>G	ENSP00000245907:p.Tyr1447His		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391608	0.83011	.	.	ENSG00000125730	ENST00000245907	T	0.56275	0.47	5.71	5.71	0.89125	Alpha-macroglobulin, receptor-binding (3);	0.238434	0.44285	D	0.000468	T	0.78207	0.4247	M	0.91561	3.22	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	T	0.83200	-0.0079	10	0.66056	D	0.02	.	14.9604	0.71153	1.0:0.0:0.0:0.0	.	1447	P01024	CO3_HUMAN	H	1447	ENSP00000245907:Y1447H	ENSP00000245907:Y1447H	Y	-	1	0	C3	6632963	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.767000	0.68850	2.176000	0.68965	0.478000	0.44815	TAC		0.527	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		G	6681963	A	G	6681963	3	3	407	1	0	0	0	0	1	0	0	0	2206	420	15	3	680	3	C3	19	6681963	Missense_Mutation	SNP	A	TCGA-BP-4998-01A-01D-1462-08		6681963	52447020	31	22438											
PGPEP1	54858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18466813	18466813	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr19:18466813A>G	ENST00000269919.6	+	3	291	c.196A>G	c.(196-198)Agt>Ggt	p.S66G	PGPEP1_ENST00000595066.1_Missense_Mutation_p.S66G|PGPEP1_ENST00000252813.5_5'UTR|PGPEP1_ENST00000597431.2_Missense_Mutation_p.S66G|PGPEP1_ENST00000604499.2_Missense_Mutation_p.S66G	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	66						cytosol (GO:0005829)	cysteine-type peptidase activity (GO:0008234)|pyroglutamyl-peptidase activity (GO:0016920)	p.S66G(1)									GGAGAAGCACAGTCCACAGGT	0.567																																																1	Substitution - Missense(1)	kidney(1)											116	91	99					19																	18466813		2203	4300	6503	SO:0001583	missense	54858			AJ278828	CCDS12375.1, CCDS74314.1	19p13.11	2012-07-25				ENSG00000130517	3.4.19.3		13568	protein-coding gene	gene with protein product	"pyroglutamyl aminopeptidase"	610694					Standard	XM_006722783		Approved	PGP-I, Pcp, PGP, PGPI	uc002nis.1	Q9NXJ5		ENST00000269919.6:c.196A>G	19.37:g.18466813A>G	ENSP00000269919:p.Ser66Gly		A8K1Q3|Q8IVT1	Missense_Mutation	SNP	ENST00000269919.6	37	CCDS12375.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102921	0.37145	.	.	ENSG00000130517	ENST00000269919	T	0.43294	0.95	5.36	5.36	0.76844	.	0.252011	0.47455	D	0.000232	T	0.27629	0.0679	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.05517	-1.0880	10	0.48119	T	0.1	-35.7158	14.1527	0.65398	1.0:0.0:0.0:0.0	.	66	Q9NXJ5	PGPI_HUMAN	G	66	ENSP00000269919:S66G	ENSP00000269919:S66G	S	+	1	0	PGPEP1	18327813	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.671000	0.46842	2.037000	0.60232	0.402000	0.26972	AGT		0.567	PGPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466327.3	NM_017712		G	18466813	A	G	18466813	3	3	407	1	0	0	0	0	1	0	0	0	11805	188	7	3	206	3	PGPEP1	19	18466813	Missense_Mutation	SNP	A	TCGA-BP-4998-01A-01D-1462-08	11784850	18466813	40662170	32	22439											
SNX5	27131	broad.mit.edu;ucsc.edu	37	20	17930825	17930825	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr20:17930825C>T	ENST00000377768.3	-	9	1054	c.742G>A	c.(742-744)Gca>Aca	p.A248T	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.A248T	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	248	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)	p.A248T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						AAGCAGGCTGCGGTGTGGATA	0.448																																																1	Substitution - Missense(1)	kidney(1)											98	89	92					20																	17930825		2203	4300	6503	SO:0001583	missense	27131			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"Sorting nexins"	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.742G>A	20.37:g.17930825C>T	ENSP00000366998:p.Ala248Thr		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527004	0.64860	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.39406	1.08;1.08;1.08;1.87	5.74	4.69	0.59074	Vps5 C-terminal (1);	0.047598	0.85682	D	0.000000	T	0.36690	0.0976	L	0.46157	1.445	0.49687	D	0.999812	B;B	0.13145	0.007;0.002	B;B	0.16289	0.015;0.009	T	0.24261	-1.0165	10	0.72032	D	0.01	-2.3823	11.728	0.51720	0.3659:0.6341:0.0:0.0	.	269;248	B7Z476;Q9Y5X3	.;SNX5_HUMAN	T	248;248;211;213	ENSP00000366998:A248T;ENSP00000366988:A248T;ENSP00000404448:A211T;ENSP00000406731:A213T	ENSP00000366988:A248T	A	-	1	0	SNX5	17878825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.340000	0.59328	2.873000	0.98535	0.561000	0.74099	GCA		0.448	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			T	17930825	C	T	17930825	3	4	407	1	0	0	0	0	1	0	0	0	14911	768	27	1	496	1	SNX5	20	17930825	Missense_Mutation	SNP	C	TCGA-BP-4998-01A-01D-1462-08		17930825	45094695	33	22440											
REM1	28954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30064360	30064360	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr20:30064360T>G	ENST00000201979.2	+	2	405	c.112T>G	c.(112-114)Tcc>Gcc	p.S38A	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	38					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.S38A(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACAGTGCCTTCCACTCAATC	0.647																																																1	Substitution - Missense(1)	kidney(1)											83	88	86					20																	30064360		2203	4300	6503	SO:0001583	missense	28954			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.112T>G	20.37:g.30064360T>G	ENSP00000201979:p.Ser38Ala		E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	T	1.304	-0.603971	0.03717	.	.	ENSG00000088320	ENST00000201979	T	0.64991	-0.13	4.53	-1.29	0.09288	.	0.701573	0.12775	N	0.440167	T	0.34366	0.0895	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20672	-1.0268	10	0.07325	T	0.83	.	3.4533	0.07506	0.1806:0.3671:0.0:0.4523	.	38	O75628	REM1_HUMAN	A	38	ENSP00000201979:S38A	ENSP00000201979:S38A	S	+	1	0	REM1	29528021	0.000000	0.05858	0.000000	0.03702	0.623000	0.37688	-0.294000	0.08309	-0.112000	0.11979	0.460000	0.39030	TCC		0.647	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		G	30064360	T	G	30064360	3	3	407	1	0	0	0	0	1	0	0	0	13228	1783	62	5	114	5	REM1	20	30064360	Missense_Mutation	SNP	T	TCGA-BP-4998-01A-01D-1462-08	12133535	30064360	32961160	34	22441											
COL6A2	1292	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47542435	47542435	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr21:47542435G>A	ENST00000300527.4	+	20	1702	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	COL6A2_ENST00000397763.1_Missense_Mutation_p.R533H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R533H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R533H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R533H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	533	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.R533H(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCGGCCCACGCGGCCCCGAG	0.632																																																3	Substitution - Missense(3)	kidney(3)											47	52	51					21																	47542435		2203	4299	6502	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1598G>A	21.37:g.47542435G>A	ENSP00000300527:p.Arg533His		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407706	0.11754	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.2	4.33	-5.84	0.02318	.	1.813920	0.03590	N	0.231715	D	0.91683	0.7371	M	0.68317	2.08	0.09310	N	1	P;P;B	0.48407	0.91;0.726;0.423	B;B;B	0.42593	0.392;0.131;0.131	D	0.86561	0.1841	10	0.54805	T	0.06	0.1811	11.5228	0.50562	0.1615:0.6056:0.2329:0.0	.	533;533;533	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	533;533;533;533;533;74	ENSP00000300527:R533H;ENSP00000350497:R533H;ENSP00000312529:R533H;ENSP00000387115:R533H;ENSP00000380870:R533H;ENSP00000395751:R74H	ENSP00000300527:R533H	R	+	2	0	COL6A2	46366863	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-1.061000	0.03472	-0.966000	0.03587	-0.339000	0.08088	CGC		0.632	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			A	47542435	G	A	47542435	3	1	407	1	0	0	0	0	1	0	0	0	3702	1087	38	1	1672	1	COL6A2	21	47542435	Missense_Mutation	SNP	G	TCGA-BP-4998-01A-01D-1462-08		47542435	587460	35	22442											
PHF8	23133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54048718	54048718	+	Silent	SNP	T	T	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chrX:54048718T>C	ENST00000357988.5	-	4	733	c.375A>G	c.(373-375)agA>agG	p.R125R	PHF8_ENST00000338154.6_Silent_p.R89R|PHF8_ENST00000338946.6_Silent_p.R89R|PHF8_ENST00000322659.8_Silent_p.R89R	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	125					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R89R(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCCGGAGCTCTCTGACGAACG	0.537																																																2	Substitution - coding silent(2)	kidney(2)											133	113	120					X																	54048718		2203	4300	6503	SO:0001819	synonymous_variant	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.375A>G	X.37:g.54048718T>C			B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	CCDS55420.1																																																																																				0.537	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		C	54048718	T	C	54048718	2	2	407	1	0	0	0	0	0	0	0	1	11842	1548	54	3		3	PHF8	23	54048718	Silent	SNP	T	TCGA-BP-4998-01A-01D-1462-08		54048718	101221842	36	22443											
RCC2	55920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17747210	17747210	+	Splice_Site	SNP	C	C	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr1:17747210C>G	ENST00000375436.4	-	7	1046	c.859G>C	c.(859-861)Gga>Cga	p.G287R	RCC2_ENST00000375433.3_Splice_Site_p.G287R	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	287					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)	p.G287R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ACTTCCATACCCAGCTGACCA	0.423																																																1	Substitution - Missense(1)	kidney(1)											64	65	65					1																	17747210		2203	4300	6503	SO:0001630	splice_region_variant	55920				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.859+1G>C	1.37:g.17747210C>G			Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297057	0.95574	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.98747	-5.11;-5.11	5.45	5.45	0.79879	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99504	0.9823	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98171	1.0452	9	.	.	.	-19.3109	18.2081	0.89861	0.0:1.0:0.0:0.0	.	287	Q9P258	RCC2_HUMAN	R	287	ENSP00000364585:G287R;ENSP00000364582:G287R	.	G	-	1	0	RCC2	17619797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.720000	0.93068	0.655000	0.94253	GGA		0.423	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715	Missense_Mutation	G	17747210	C	G	17747210	5	3	408	1	0	0	0	0	0	0	1	0	13180	637	22	4	737	4	RCC2	1	17747210	Splice_Site	SNP	C	TCGA-BP-4999-01A-01D-1462-08		17747210	231503411	1	22444											
TEKT2	27285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36552420	36552420	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr1:36552420A>G	ENST00000207457.3	+	5	731	c.604A>G	c.(604-606)Aag>Gag	p.K202E	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	202					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.K202E(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATCTCGCTGAAGGTTGACCC	0.547																																																1	Substitution - Missense(1)	kidney(1)											158	133	142					1																	36552420		2203	4300	6503	SO:0001583	missense	27285			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.604A>G	1.37:g.36552420A>G	ENSP00000207457:p.Lys202Glu		A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	CCDS401.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.512128	0.64522	.	.	ENSG00000092850	ENST00000207457	T	0.02763	4.17	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.17066	0.0410	M	0.86953	2.85	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.02398	-1.1165	10	0.32370	T	0.25	.	15.8542	0.78965	1.0:0.0:0.0:0.0	.	202	Q9UIF3	TEKT2_HUMAN	E	202	ENSP00000207457:K202E	ENSP00000207457:K202E	K	+	1	0	TEKT2	36325007	1.000000	0.71417	0.998000	0.56505	0.170000	0.22686	9.187000	0.94912	2.144000	0.66660	0.460000	0.39030	AAG		0.547	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		G	36552420	A	G	36552420	3	3	408	1	0	0	0	0	1	0	0	0	15758	247	9	3	618	3	TEKT2	1	36552420	Missense_Mutation	SNP	A	TCGA-BP-4999-01A-01D-1462-08	18805210	36552420	212698201	2	22445											
USP33	23032	hgsc.bcm.edu;ucsc.edu	37	1	78167136	78167136	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr1:78167136delT	ENST00000370793.1	-	23	2866	c.2520delA	c.(2518-2520)aaafs	p.K840fs	USP33_ENST00000370794.3_Frame_Shift_Del_p.K809fs|USP33_ENST00000357428.1_Frame_Shift_Del_p.K840fs	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	840	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GAGAGTCCTCTTTTTGGAACG	0.383																																					Melanoma(152;72 1870 11110 26780 42647)											0													106	114	111					1																	78167136		2203	4300	6503	SO:0001589	frameshift_variant	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2520delA	1.37:g.78167136delT	ENSP00000359829:p.Lys840fs		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Frame_Shift_Del	DEL	ENST00000370793.1	37	CCDS678.1																																																																																				0.383	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		-	78167136	T	-	78167136	7	5	408	1	0	1	0	1	0	0	0	0	17069	1606	56	0	320	0	USP33	1	78167136	Frame_Shift_Del	DEL	T	TCGA-BP-4999-01A-01D-1462-08	41614716	78167136	171083485	3	22446											
SSX2IP	117178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	85117618	85117618	+	Silent	SNP	G	G	T			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr1:85117618G>T	ENST00000342203.3	-	12	1715	c.1452C>A	c.(1450-1452)acC>acA	p.T484T	SSX2IP_ENST00000437941.2_Silent_p.T457T|SSX2IP_ENST00000370612.4_Silent_p.T484T|SSX2IP_ENST00000603677.1_Silent_p.T3T|SSX2IP_ENST00000605755.1_Silent_p.T457T	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	484					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.T484T(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GGTGGTCAAAGGTAGTCATAT	0.328																																																1	Substitution - coding silent(1)	kidney(1)											137	130	132					1																	85117618		2203	4300	6503	SO:0001819	synonymous_variant	117178				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1452C>A	1.37:g.85117618G>T			A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Silent	SNP	ENST00000342203.3	37	CCDS699.1																																																																																				0.328	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		T	85117618	G	T	85117618	2	4	408	1	0	0	0	0	0	0	0	1	15209	987	35	4		4	SSX2IP	1	85117618	Silent	SNP	G	TCGA-BP-4999-01A-01D-1462-08	6950482	85117618	164133003	4	22447											
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu	37	1	144931029	144931029	+	Intron	SNP	G	G	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr1:144931029G>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P227L|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.P227L|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.P227L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCATCTGGGGGTACCTTTGT	0.552			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Substitution - Missense(1)	kidney(1)											97	99	99					1																	144931029		2203	4300	6503	SO:0001627	intron_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7208C>T	1.37:g.144931029G>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375941	0.42105	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.12569	2.67;2.67	5.28	4.32	0.51571	.	.	.	.	.	T	0.07548	0.0190	L	0.47716	1.5	0.51767	D	0.999939	B	0.15930	0.015	B	0.18871	0.023	T	0.04255	-1.0965	9	0.66056	D	0.02	.	13.0409	0.58899	0.0:0.0:0.8388:0.1612	.	227	Q5VU43-2	.	L	227	ENSP00000316434:P227L;ENSP00000433392:P227L	ENSP00000316434:P227L	P	-	2	0	PDE4DIP	143642386	0.004000	0.15560	0.939000	0.37840	0.994000	0.84299	1.455000	0.35190	2.470000	0.83445	0.491000	0.48974	CCC		0.552	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144931029	G	A	144931029	1	1	408	0	1	0	0	0	0	0	0	0	11645	1232	43	2		2	PDE4DIP	1	144931029	Intron	SNP	G	TCGA-BP-4999-01A-01D-1462-08	59813411	144931029	104319592	5	22448											
CD84	8832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160523749	160523749	+	Silent	SNP	C	C	T			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr1:160523749C>T	ENST00000311224.4	-	3	642	c.576G>A	c.(574-576)acG>acA	p.T192T	CD84_ENST00000368051.3_Silent_p.T192T|CD84_ENST00000368054.3_Silent_p.T192T|CD84_ENST00000368048.3_Silent_p.T192T|CD84_ENST00000534968.1_Silent_p.T78T|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	192	Ig-like C2-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T192T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGCTGTACACGTGTAAGTCA	0.507																																																1	Substitution - coding silent(1)	kidney(1)											177	162	167					1																	160523749		2203	4300	6503	SO:0001819	synonymous_variant	8832			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.576G>A	1.37:g.160523749C>T			B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Silent	SNP	ENST00000311224.4	37	CCDS53396.1																																																																																				0.507	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		T	160523749	C	T	160523749	2	4	408	1	0	0	0	0	0	0	0	1	3044	523	19	1		1	CD84	1	160523749	Silent	SNP	C	TCGA-BP-4999-01A-01D-1462-08	15592720	160523749	88726872	6	22449											
TPR	7175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186324584	186324584	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr1:186324584T>C	ENST00000367478.4	-	17	2425	c.2129A>G	c.(2128-2130)cAa>cGa	p.Q710R	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	710					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.Q711R(1)|p.Q710R(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTGGTATTTTGTGATCGCAA	0.274			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - Missense(2)	kidney(2)											130	120	123					1																	186324584		1798	4065	5863	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2129A>G	1.37:g.186324584T>C	ENSP00000356448:p.Gln710Arg		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018212	0.75275	.	.	ENSG00000047410	ENST00000367478	T	0.17054	2.3	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.22589	0.0545	M	0.63428	1.95	0.58432	D	0.999994	P	0.52842	0.956	B	0.41764	0.366	T	0.02766	-1.1113	10	0.62326	D	0.03	.	15.9669	0.79979	0.0:0.0:0.0:1.0	.	710	P12270	TPR_HUMAN	R	710	ENSP00000356448:Q710R	ENSP00000356448:Q710R	Q	-	2	0	TPR	184591207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.612000	0.82975	2.236000	0.73375	0.533000	0.62120	CAA		0.274	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		C	186324584	T	C	186324584	3	2	408	1	0	0	0	0	1	0	0	0	16421	1812	63	3	5102	3	TPR	1	186324584	Missense_Mutation	SNP	T	TCGA-BP-4999-01A-01D-1462-08	25800835	186324584	62926037	7	22450											
HHIPL2	79802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222721137	222721137	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr1:222721137C>G	ENST00000343410.6	-	1	308	c.250G>C	c.(250-252)Gac>Cac	p.D84H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	84					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.D84H(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCATGATGTCCCAGTACCGG	0.522																																																1	Substitution - Missense(1)	kidney(1)											66	67	67					1																	222721137		1978	4150	6128	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.250G>C	1.37:g.222721137C>G	ENSP00000342118:p.Asp84His		Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	6.377	0.437623	0.12104	.	.	ENSG00000143512	ENST00000343410	T	0.41758	0.99	4.93	4.93	0.64822	Folate receptor-like (1);	0.391477	0.27126	N	0.020809	T	0.42539	0.1207	M	0.61703	1.905	0.36699	D	0.879994	B	0.15141	0.012	B	0.21546	0.035	T	0.48917	-0.8992	10	0.45353	T	0.12	-30.4453	13.1658	0.59571	0.1597:0.8403:0.0:0.0	.	84	Q6UWX4	HIPL2_HUMAN	H	84	ENSP00000342118:D84H	ENSP00000342118:D84H	D	-	1	0	HHIPL2	220787760	0.279000	0.24239	0.993000	0.49108	0.063000	0.16089	0.685000	0.25378	2.250000	0.74265	0.655000	0.94253	GAC		0.522	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		G	222721137	C	G	222721137	3	3	408	1	0	0	0	0	1	0	0	0	7096	855	30	4	1960	4	HHIPL2	1	222721137	Missense_Mutation	SNP	C	TCGA-BP-4999-01A-01D-1462-08	36396553	222721137	26529484	8	22451											
DNMT3A	1788	hgsc.bcm.edu;ucsc.edu	37	2	25467027	25467027	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr2:25467027delT	ENST00000264709.3	-	15	2185	c.1848delA	c.(1846-1848)gaafs	p.E616fs	DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.E427fs|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.E393fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.E616fs|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	616					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTCACAAATTCCTGGTCGT	0.642			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													32	37	36					2																	25467027		2203	4300	6503	SO:0001589	frameshift_variant	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1848delA	2.37:g.25467027delT	ENSP00000264709:p.Glu616fs		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	ENST00000264709.3	37	CCDS33157.1																																																																																				0.642	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		-	25467027	T	-	25467027	7	5	408	1	0	1	0	1	0	0	0	0	4678	1490	52	0	926	0	DNMT3A	2	25467027	Frame_Shift_Del	DEL	T	TCGA-BP-4999-01A-01D-1462-08		25467027	217732346	9	22452											
ALMS1	7840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73717074	73717074	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr2:73717074A>G	ENST00000264448.6	+	10	8096	c.7985A>G	c.(7984-7986)aAa>aGa	p.K2662R	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.K2620R	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2662					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.K2662R(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GATGAATTCAAAATCAGCAAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											108	102	104					2																	73717074		1825	4076	5901	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7985A>G	2.37:g.73717074A>G	ENSP00000264448:p.Lys2662Arg		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.269945	0.23221	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07567	3.18;3.18	4.45	3.29	0.37713	.	0.382752	0.22672	N	0.057042	T	0.04634	0.0126	N	0.17082	0.46	0.80722	D	1	B;B;B	0.27679	0.185;0.073;0.073	B;B;B	0.22601	0.04;0.04;0.04	T	0.44892	-0.9298	10	0.33141	T	0.24	.	6.2788	0.20995	0.8832:0.0:0.1168:0.0	.	2662;2620;2662	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	R	2620;2662	ENSP00000386627:K2620R;ENSP00000264448:K2662R	ENSP00000264448:K2662R	K	+	2	0	ALMS1	73570582	0.998000	0.40836	0.999000	0.59377	0.836000	0.47400	1.210000	0.32370	1.010000	0.39314	0.528000	0.53228	AAA		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		G	73717074	A	G	73717074	3	3	408	1	0	0	0	0	1	0	0	0	535	14	1	3	8023	3	ALMS1	2	73717074	Missense_Mutation	SNP	A	TCGA-BP-4999-01A-01D-1462-08	48250047	73717074	169482299	10	22453											
TMBIM1	64114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219140333	219140333	+	Silent	SNP	G	G	A	rs377618088		TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr2:219140333G>A	ENST00000444881.1	-	13	1526	c.801C>T	c.(799-801)taC>taT	p.Y267Y	TMBIM1_ENST00000258412.3_Silent_p.Y267Y|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000445635.1_Silent_p.Y93Y|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000396809.2_Silent_p.Y267Y			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	267					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)	p.Y267Y(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGTGTGTCGTAAGCCAGGA	0.527																																																1	Substitution - coding silent(1)	kidney(1)						G	,	0,4406		0,0,2203	159	135	143		,801	-10.6	0.1	2		143	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	PNKD,TMBIM1	NM_015488.4,NM_022152.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,267/312	219140333	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64114			BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.801C>T	2.37:g.219140333G>A			B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Silent	SNP	ENST00000444881.1	37	CCDS2412.1																																																																																				0.527	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338559.1	NM_022152		A	219140333	G	A	219140333	2	1	408	1	0	0	0	0	0	0	0	1	15986	1140	40	1		1	TMBIM1	2	219140333	Silent	SNP	G	TCGA-BP-4999-01A-01D-1462-08	145423259	219140333	24059040	11	22454											
ZFAND2B	130617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220073738	220073738	+	Silent	SNP	G	G	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr2:220073738G>A	ENST00000289528.5	+	8	891	c.696G>A	c.(694-696)ctG>ctA	p.L232L	ZFAND2B_ENST00000409097.1_3'UTR|ZFAND2B_ENST00000409336.1_Silent_p.L232L|ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000444522.2_3'UTR	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	232						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)	p.L232L(1)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAAGCACTGTCAGCCAGTG	0.488																																																1	Substitution - coding silent(1)	kidney(1)											91	88	89					2																	220073738		2203	4300	6503	SO:0001819	synonymous_variant	130617			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.696G>A	2.37:g.220073738G>A			Q8NB98	Silent	SNP	ENST00000289528.5	37	CCDS2435.1																																																																																				0.488	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		A	220073738	G	A	220073738	2	1	408	1	0	0	0	0	0	0	0	1	17633	1364	48	2		2	ZFAND2B	2	220073738	Silent	SNP	G	TCGA-BP-4999-01A-01D-1462-08	933405	220073738	23125635	12	22455											
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183763	10183763	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq;PacBio			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr3:10183763A>G	ENST00000256474.2	+	1	1072	c.232A>G	c.(232-234)Aat>Gat	p.N78D	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.N78D	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	78			N -> H (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|N -> S (in VHLD; type I; common mutation; dbSNP:rs5030804). {ECO:0000269|PubMed:8956040}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N78D(3)|p.F76fs*80(2)|p.F76fs*81(2)|p.N78Y(2)|p.N78H(2)|p.S72_V87>L(1)|p.C77_N78>Y(1)|p.R60fs*35(1)|p.V74fs*51(1)|p.C77fs*53(1)|p.V74fs*77(1)|p.N78fs*54(1)|p.C77_R79del(1)|p.N78fs*53(1)|p.C77*(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CATCTTCTGCAATCGCAGTCC	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	21	Deletion - Frameshift(8)|Substitution - Missense(7)|Complex - frameshift(2)|Complex - deletion inframe(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(19)|soft_tissue(2)	GRCh37	CM941365	VHL	M							12	15	14					3																	10183763		2175	4240	6415	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.232A>G	3.37:g.10183763A>G	ENSP00000256474:p.Asn78Asp		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	35	5.555516	0.96514	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99960	-9.15;-9.15	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.043720	0.85682	D	0.000000	D	0.99951	0.9979	M	0.84773	2.715	0.42535	D	0.993053	D;D	0.65815	0.994;0.995	D;P	0.63703	0.917;0.866	D	0.94627	0.7818	10	0.87932	D	0	-4.0134	13.5016	0.61459	1.0:0.0:0.0:0.0	.	78;78	P40337-2;P40337	.;VHL_HUMAN	D	78	ENSP00000256474:N78D;ENSP00000344757:N78D	ENSP00000256474:N78D	N	+	1	0	VHL	10158763	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.728000	0.68531	2.069000	0.61940	0.450000	0.29827	AAT		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183763	A	G	10183763	3	3	408	1	0	0	0	0	1	0	0	0	17167	130	5	3	234	3	VHL	3	10183763	Missense_Mutation	SNP	A	TCGA-BP-4999-01A-01D-1462-08		10183763	187838667	13	22456											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52663035	52663035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr3:52663035G>A	ENST00000296302.7	-	12	1319	c.1318C>T	c.(1318-1320)Caa>Taa	p.Q440*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q440*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q440*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q440*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q440*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q440*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q408*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q440*			Q86U86	PB1_HUMAN	polybromo 1	440	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q440*(3)|p.Q408*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATATTCTTGATTCTTCAGT	0.328			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	4	Substitution - Nonsense(4)	kidney(4)											65	60	62					3																	52663035		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1318C>T	3.37:g.52663035G>A	ENSP00000296302:p.Gln440*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.669622	0.96754	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.38	5.38	0.77491	.	0.173757	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-18.944	14.8112	0.69996	0.0:0.0:0.8554:0.1446	.	.	.	.	X	408;440;440;440;440;440;440;440;440;384	.	ENSP00000296302:Q440X	Q	-	1	0	PBRM1	52638075	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.054000	0.49908	2.532000	0.85374	0.467000	0.42956	CAA		0.328	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52663035	G	A	52663035	4	1	408	1	0	0	0	0	0	1	0	0	11493	1299	45	2	3658	2	PBRM1	3	52663035	Nonsense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08	42479272	52663035	145359395	14	22457											
APBB2	323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	40829224	40829224	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr4:40829224G>A	ENST00000295974.8	-	14	2283	c.1654C>T	c.(1654-1656)Cgg>Tgg	p.R552W	RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Missense_Mutation_p.R531W|APBB2_ENST00000508593.1_Missense_Mutation_p.R553W|APBB2_ENST00000513140.1_Missense_Mutation_p.R531W|APBB2_ENST00000543538.1_Missense_Mutation_p.R4W|APBB2_ENST00000502841.1_Missense_Mutation_p.R4W|Y_RNA_ENST00000384466.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.R4W	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	552	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.R531W(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCATTCTTCCGTTCAGCCATA	0.507																																					Ovarian(3;20 75 16686 49997)											1	Substitution - Missense(1)	kidney(1)											136	137	137					4																	40829224		1978	4153	6131	SO:0001583	missense	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1654C>T	4.37:g.40829224G>A	ENSP00000295974:p.Arg552Trp		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.047503|4.047503	0.75846|0.75846	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305;ENST00000512510;ENST00000510670;ENST00000514920;ENST00000513516|ENST00000513611	T;T;T;T;T;T;T;T|.	0.54279|.	2.08;0.58;2.08;2.08;0.58;2.08;0.58;2.08|.	5.89|5.89	4.04|4.04	0.47022|0.47022	Phosphotyrosine interaction domain (3);|.	0.058204|.	0.64402|.	D|.	0.000001|.	T|T	0.72969|0.72969	0.3527|0.3527	M|M	0.76574|0.76574	2.34|2.34	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D|.	0.63046|.	0.986;0.983;0.992|.	P;P;P|.	0.56088|.	0.791;0.686;0.791|.	T|T	0.74553|0.74553	-0.3627|-0.3627	10|5	0.87932|.	D|.	0|.	-22.8575|-22.8575	13.6062|13.6062	0.62048|0.62048	0.0:0.0:0.5999:0.4001|0.0:0.0:0.5999:0.4001	.|.	553;531;552|.	E9PG87;Q92870-2;Q92870|.	.;.;APBB2_HUMAN|.	W|M	552;551;4;531;553;4;531;4;66;4;4;4|521	ENSP00000295974:R552W;ENSP00000439357:R4W;ENSP00000426018:R531W;ENSP00000427211:R553W;ENSP00000425802:R4W;ENSP00000421539:R531W;ENSP00000423765:R4W;ENSP00000426429:R66W|.	ENSP00000295974:R552W|.	R|T	-|-	1|2	2|0	APBB2|APBB2	40523981|40523981	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.841000|0.841000	0.47740|0.47740	2.511000|2.511000	0.45476|0.45476	1.460000|1.460000	0.47911|0.47911	0.563000|0.563000	0.77884|0.77884	CGG|ACG		0.507	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		A	40829224	G	A	40829224	3	1	408	1	0	0	0	0	1	0	0	0	761	1144	40	1	642	1	APBB2	4	40829224	Missense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08		40829224	150325052	15	22458											
CNGA1	1259	broad.mit.edu;hgsc.bcm.edu	37	4	47939840	47939840	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr4:47939840A>C	ENST00000514170.1	-	11	990	c.671T>G	c.(670-672)cTa>cGa	p.L224R	CNGA1_ENST00000358519.4_Missense_Mutation_p.L224R|CNGA1_ENST00000420489.2_Missense_Mutation_p.L224R|CNGA1_ENST00000544810.1_Missense_Mutation_p.L224R|CNGA1_ENST00000402813.3_Missense_Mutation_p.L293R			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	224					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.L224R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCCTTGTTCTAGGTAACCTAA	0.299																																																1	Substitution - Missense(1)	kidney(1)											49	52	51					4																	47939840		1799	4059	5858	SO:0001583	missense	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.671T>G	4.37:g.47939840A>C	ENSP00000426862:p.Leu224Arg		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493572	0.64186	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89	5.53	5.53	0.82687	Ion transport (1);	0.149549	0.46145	D	0.000314	D	0.98302	0.9437	M	0.93062	3.375	0.53688	D	0.999973	B;B	0.34255	0.445;0.445	B;B	0.37015	0.239;0.239	D	0.99320	1.0906	10	0.87932	D	0	.	15.7336	0.77825	1.0:0.0:0.0:0.0	.	224;224	Q4W5E3;P29973	.;CNGA1_HUMAN	R	293;224;224;224;224	ENSP00000384264:L293R;ENSP00000426862:L224R;ENSP00000443401:L224R;ENSP00000351320:L224R;ENSP00000389881:L224R	ENSP00000351320:L224R	L	-	2	0	CNGA1	47634597	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	8.962000	0.93254	2.113000	0.64589	0.529000	0.55759	CTA		0.299	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		C	47939840	A	C	47939840	3	2	408	1	0	0	0	0	1	0	0	0	3598	420	15	5	1405	5	CNGA1	4	47939840	Missense_Mutation	SNP	A	TCGA-BP-4999-01A-01D-1462-08	7110616	47939840	143214436	16	22459											
CLPTM1L	81037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	1330417	1330417	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr5:1330417G>A	ENST00000320895.5	-	9	1315	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	CLPTM1L_ENST00000320927.6_Intron|CLPTM1L_ENST00000507807.1_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	353					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A353V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TCCAACACCCGCCGGGACCAG	0.627																																																1	Substitution - Missense(1)	kidney(1)											75	70	72					5																	1330417		2202	4294	6496	SO:0001583	missense	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1058C>T	5.37:g.1330417G>A	ENSP00000313854:p.Ala353Val		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245658	0.59103	.	.	ENSG00000049656	ENST00000320895	T	0.41400	1.0	4.84	4.84	0.62591	.	0.051372	0.85682	D	0.000000	T	0.26304	0.0642	N	0.21194	0.64	0.80722	D	1	P	0.47034	0.889	B	0.39503	0.301	T	0.13980	-1.0489	10	0.02654	T	1	-30.2174	16.7303	0.85433	0.0:0.0:1.0:0.0	.	353	Q96KA5	CLP1L_HUMAN	V	353	ENSP00000313854:A353V	ENSP00000313854:A353V	A	-	2	0	CLPTM1L	1383417	1.000000	0.71417	0.041000	0.18516	0.050000	0.14768	9.124000	0.94394	2.213000	0.71641	0.655000	0.94253	GCG		0.627	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		A	1330417	G	A	1330417	3	1	408	1	0	0	0	0	1	0	0	0	3557	1087	38	1	594	1	CLPTM1L	5	1330417	Missense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08		1330417	179584843	17	22460											
NSUN2	54888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	6600260	6600260	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr5:6600260G>C	ENST00000264670.6	-	19	2394	c.2083C>G	c.(2083-2085)Cgg>Ggg	p.R695G	NSUN2_ENST00000539938.1_Missense_Mutation_p.R459G|NSUN2_ENST00000506139.1_Missense_Mutation_p.R660G	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	695					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.R695G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TAATGAAGCCGTTCATTCTTG	0.517																																																1	Substitution - Missense(1)	kidney(1)											86	87	87					5																	6600260		2203	4300	6503	SO:0001583	missense	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.2083C>G	5.37:g.6600260G>C	ENSP00000264670:p.Arg695Gly		A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122018	0.77436	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.66099	-0.19;-0.19;-0.19	5.43	4.51	0.55191	.	0.047371	0.85682	D	0.000000	T	0.77665	0.4164	M	0.82823	2.61	0.52501	D	0.999959	D;D;D	0.89917	1.0;0.959;0.98	D;P;P	0.75484	0.986;0.867;0.9	T	0.76686	-0.2868	10	0.33940	T	0.23	-35.7651	11.5708	0.50832	0.0:0.0:0.6463:0.3537	.	660;695;695	B4DQW2;Q08J23;A8K529	.;NSUN2_HUMAN;.	G	695;459;660	ENSP00000264670:R695G;ENSP00000444338:R459G;ENSP00000420957:R660G	ENSP00000264670:R695G	R	-	1	2	NSUN2	6653260	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	1.914000	0.39966	2.532000	0.85374	0.563000	0.77884	CGG		0.517	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		C	6600260	G	C	6600260	3	2	408	1	0	0	0	0	1	0	0	0	10680	1144	40	4	224	4	NSUN2	5	6600260	Missense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08	5269843	6600260	174315000	18	22461											
MCC	4163	hgsc.bcm.edu	37	5	112399691	112399692	+	Frame_Shift_Ins	INS	-	-	G	rs143092740		TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr5:112399691_112399692insG	ENST00000302475.4	-	12	2195_2196	c.1632_1633insC	c.(1630-1635)aacagcfs	p.S545fs	MCC_ENST00000408903.3_Frame_Shift_Ins_p.S735fs|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Frame_Shift_Ins_p.S482fs	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	545					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTGGTGTGGCTGTTGGAGGAAA	0.629																																																0																																										SO:0001589	frameshift_variant	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1633dupC	5.37:g.112399692_112399692dupG	ENSP00000305617:p.Ser545fs		D3DT05|Q6ZR04	Frame_Shift_Ins	INS	ENST00000302475.4	37	CCDS4111.1																																																																																				0.629	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		G	112399692	-	G	112399691	7	5	408	1	0	1	1	0	0	0	0	0	9375	1580	55	0	880	0	MCC	5	112399691	Frame_Shift_Ins	INS	-	TCGA-BP-4999-01A-01D-1462-08	105799431	112399691	68515569	19	22462											
RELL2	285613	hgsc.bcm.edu;ucsc.edu	37	5	141019628	141019628	+	Silent	SNP	G	G	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr5:141019628G>A	ENST00000297164.3	+	5	1845	c.645G>A	c.(643-645)ggG>ggA	p.G215G	RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Silent_p.G149G|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000521367.1_Silent_p.G149G|RELL2_ENST00000444782.1_Silent_p.G215G	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	215					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGCAGGGATGCCTGCCA	0.677																																																0													27	30	29					5																	141019628		2203	4299	6502	SO:0001819	synonymous_variant	285613			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"chromosome 5 open reading frame 16"	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.645G>A	5.37:g.141019628G>A			D3DQE2|Q6P4E7|Q6UXY2	Silent	SNP	ENST00000297164.3	37	CCDS4265.1																																																																																				0.677	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		A	141019628	G	A	141019628	2	1	408	1	0	0	0	0	0	0	0	1	13225	1161	41	2		2	RELL2	5	141019628	Silent	SNP	G	TCGA-BP-4999-01A-01D-1462-08	28619937	141019628	39895632	20	22463											
HLA-DPA1	3113	broad.mit.edu;hgsc.bcm.edu	37	6	33036464	33036464	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr6:33036464C>T	ENST00000419277.1	-	5	875	c.746G>A	c.(745-747)cGt>cAt	p.R249H	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.R249H|HLA-DPA1_ENST00000463066.1_5'Flank	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	249					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.R249H(1)		kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						ATGGCCAGAACGCAGAGACTT	0.567																																																1	Substitution - Missense(1)	kidney(1)											92	118	109					6																	33036464		1511	2709	4220	SO:0001583	missense	3113			X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.746G>A	6.37:g.33036464C>T	ENSP00000393566:p.Arg249His		A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	C	7.584	0.669437	0.14776	.	.	ENSG00000231389	ENST00000419277;ENST00000428995	T;T	0.02032	4.49;4.49	3.4	0.452	0.16634	.	0.689522	0.12134	N	0.496516	T	0.00967	0.0032	L	0.56769	1.78	0.09310	N	0.999991	B	0.09022	0.002	B	0.10450	0.005	T	0.42882	-0.9425	10	0.59425	D	0.04	.	5.7911	0.18361	0.0:0.5859:0.0:0.4141	.	249	P20036	DPA1_HUMAN	H	249	ENSP00000393566:R249H;ENSP00000402872:R249H	ENSP00000393566:R249H	R	-	2	0	HLA-DPA1	33144442	0.000000	0.05858	0.032000	0.17829	0.349000	0.29174	-1.173000	0.03108	-0.066000	0.12998	-0.148000	0.13756	CGT		0.567	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		T	33036464	C	T	33036464	3	4	408	1	0	0	0	0	1	0	0	0	7204	536	19	1	40	1	HLA-DPA1	6	33036464	Missense_Mutation	SNP	C	TCGA-BP-4999-01A-01D-1462-08		33036464	138078603	21	22464											
MYO6	4646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	76591436	76591436	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr6:76591436G>A	ENST00000369977.3	+	23	2456	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N	MYO6_ENST00000369985.4_Missense_Mutation_p.D773N|MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369981.3_Missense_Mutation_p.D773N|MYO6_ENST00000369975.1_Missense_Mutation_p.D773N	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	773					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.D773N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CATGAAGTCTGACCCTGACCA	0.373																																																1	Substitution - Missense(1)	kidney(1)											119	113	115					6																	76591436		2203	4300	6503	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2317G>A	6.37:g.76591436G>A	ENSP00000358994:p.Asp773Asn		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	36	5.634745	0.96682	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.91635	0.999;0.987	D	0.85316	0.1081	10	0.62326	D	0.03	.	19.4895	0.95044	0.0:0.0:1.0:0.0	.	773;773	Q9UM54-2;Q9UM54-1	.;.	N	773	ENSP00000358998:D773N;ENSP00000359002:D773N;ENSP00000358994:D773N;ENSP00000358992:D773N	ENSP00000358992:D773N	D	+	1	0	MYO6	76648156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.447000	0.97595	2.596000	0.87737	0.655000	0.94253	GAC		0.373	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		A	76591436	G	A	76591436	3	1	408	1	0	0	0	0	1	0	0	0	10083	1290	45	2	2403	2	MYO6	6	76591436	Missense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08	43554972	76591436	94523631	22	22465											
MICALL2	79778	broad.mit.edu;ucsc.edu	37	7	1474748	1474748	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr7:1474748A>G	ENST00000297508.7	-	16	2802	c.2627T>C	c.(2626-2628)aTt>aCt	p.I876T	MICALL2_ENST00000471899.1_Intron|MICALL2_ENST00000405088.4_Missense_Mutation_p.I664T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	876	Mediates interaction with RAB13 and is required for transition from the closed to the opened conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.I876T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CAGCTTCTCAATCATGTCCCG	0.657																																																1	Substitution - Missense(1)	kidney(1)											105	98	100					7																	1474748		2202	4299	6501	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2627T>C	7.37:g.1474748A>G	ENSP00000297508:p.Ile876Thr		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	A	5.697	0.313055	0.10789	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.73469	2.11;-0.75	3.91	3.91	0.45181	.	0.204244	0.24260	N	0.040082	T	0.73705	0.3621	N	0.20986	0.625	0.34595	D	0.715937	D;B	0.69078	0.997;0.009	P;B	0.60682	0.878;0.005	T	0.81887	-0.0726	10	0.87932	D	0	.	11.772	0.51965	1.0:0.0:0.0:0.0	.	876;664	Q8IY33;D3YTD2	MILK2_HUMAN;.	T	664;876	ENSP00000385928:I664T;ENSP00000297508:I876T	ENSP00000297508:I876T	I	-	2	0	MICALL2	1441274	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	2.921000	0.48852	1.644000	0.50603	0.449000	0.29647	ATT		0.657	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		G	1474748	A	G	1474748	3	3	408	1	0	0	0	0	1	0	0	0	9576	101	4	3	95	3	MICALL2	7	1474748	Missense_Mutation	SNP	A	TCGA-BP-4999-01A-01D-1462-08		1474748	157663915	23	22466											
GPNMB	10457	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23307604	23307604	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr7:23307604G>A	ENST00000381990.2	+	8	1414	c.1253G>A	c.(1252-1254)gGg>gAg	p.G418E	GPNMB_ENST00000453162.2_Missense_Mutation_p.G360E|GPNMB_ENST00000258733.4_Missense_Mutation_p.G406E|GPNMB_ENST00000539136.1_Missense_Mutation_p.G307E	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	418					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.G418E(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACCTGCCAAGGGAGGTGAGTA	0.493																																																1	Substitution - Missense(1)	kidney(1)											118	114	116					7																	23307604		2203	4300	6503	SO:0001583	missense	10457			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1253G>A	7.37:g.23307604G>A	ENSP00000371420:p.Gly418Glu		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075668	0.76415	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.64438	0.07;-0.03;0.15;-0.1	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.83059	0.5172	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85343	0.1097	10	0.87932	D	0	-20.3965	19.7831	0.96426	0.0:0.0:1.0:0.0	.	307;360;418;406	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	E	406;453;418;301;307;360	ENSP00000258733:G406E;ENSP00000371420:G418E;ENSP00000445266:G307E;ENSP00000405586:G360E	ENSP00000258733:G406E	G	+	2	0	GPNMB	23274129	1.000000	0.71417	0.897000	0.35233	0.346000	0.29079	7.443000	0.80521	2.687000	0.91594	0.561000	0.74099	GGG		0.493	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		A	23307604	G	A	23307604	3	1	408	1	0	0	0	0	1	0	0	0	6622	1232	43	2	1283	2	GPNMB	7	23307604	Missense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08	21832856	23307604	135831059	24	22467											
ESYT2	57488	hgsc.bcm.edu;ucsc.edu	37	7	158557475	158557475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr7:158557475delC	ENST00000251527.5	-	9	1203	c.1138delG	c.(1138-1140)gtcfs	p.V380fs		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	408	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTTCCCTTGACAAGTCCCTTA	0.418																																																0													140	130	133					7																	158557475		2203	4300	6503	SO:0001589	frameshift_variant	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1138delG	7.37:g.158557475delC	ENSP00000251527:p.Val380fs		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Frame_Shift_Del	DEL	ENST00000251527.5	37	CCDS34791.1																																																																																				0.418	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		-	158557475	C	-	158557475	7	5	408	1	0	1	0	1	0	0	0	0	5267	478	17	0	1599	0	ESYT2	7	158557475	Frame_Shift_Del	DEL	C	TCGA-BP-4999-01A-01D-1462-08	135249871	158557475	581188	25	22468											
RP1	6101	hgsc.bcm.edu;ucsc.edu	37	8	55539690	55539695	+	In_Frame_Del	DEL	TACCAG	TACCAG	-			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	TACCAG	TACCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr8:55539690_55539695delTACCAG	ENST00000220676.1	+	4	3396_3401	c.3248_3253delTACCAG	c.(3247-3255)ttaccagtc>ttc	p.1083_1085LPV>F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1083					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAGACCTCTTACCAGTCCTGATGCT	0.422																																					Colon(91;1014 1389 7634 14542 40420)											0																																										SO:0001651	inframe_deletion	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3248_3253delTACCAG	8.37:g.55539690_55539695delTACCAG	ENSP00000220676:p.Leu1083_Val1085delinsPhe			In_Frame_Del	DEL	ENST00000220676.1	37	CCDS6160.1																																																																																				0.422	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		-	55539695	TACCAG	-	55539690	7	5	408	1	0	1	0	1	0	0	0	0	13538	1764	61	0	3258	0	RP1	8	55539690	In_Frame_Del	DEL	TACCAG	TCGA-BP-4999-01A-01D-1462-08		55539690	90824332	26	22469											
ZNF658	26149	broad.mit.edu	37	9	40772750	40772750	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr9:40772750C>T	ENST00000602553.1	-	5	2819	c.2525G>A	c.(2524-2526)tGt>tAt	p.C842Y	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.C842Y			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	842					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C842Y(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGATGTGCACAGAGGTGTGT	0.428																																																1	Substitution - Missense(1)	kidney(1)											21	20	20					9																	40772750		2200	4277	6477	SO:0001583	missense	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2525G>A	9.37:g.40772750C>T	ENSP00000473484:p.Cys842Tyr		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	7.958	0.746301	0.15710	.	.	ENSG00000196409	ENST00000377626	T	0.00986	5.47	1.97	-1.51	0.08664	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00412	0.0013	N	0.03050	-0.425	0.09310	N	1	P	0.36171	0.541	B	0.35688	0.208	T	0.35425	-0.9789	9	0.10111	T	0.7	.	0.9006	0.01273	0.3981:0.2619:0.1969:0.1431	.	842	Q5TYW1	ZN658_HUMAN	Y	842	ENSP00000366853:C842Y	ENSP00000366853:C842Y	C	-	2	0	ZNF658	40762750	0.000000	0.05858	0.001000	0.08648	0.990000	0.78478	-1.369000	0.02578	-0.364000	0.08088	0.518000	0.50308	TGT		0.428	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		T	40772750	C	T	40772750	3	4	408	1	0	0	0	0	1	0	0	0	18074	478	17	2	658	2	ZNF658	9	40772750	Missense_Mutation	SNP	C	TCGA-BP-4999-01A-01D-1462-08		40772750	100440681	27	22470											
PRDM12	59335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133543580	133543580	+	Silent	SNP	C	C	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr9:133543580C>A	ENST00000253008.2	+	3	510	c.450C>A	c.(448-450)atC>atA	p.I150I		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	150	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.I150I(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GCTACTTCATCGATGCCAGCC	0.567																																																1	Substitution - coding silent(1)	kidney(1)											176	130	146					9																	133543580		2203	4300	6503	SO:0001819	synonymous_variant	59335			AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.450C>A	9.37:g.133543580C>A			A3KFK9	Silent	SNP	ENST00000253008.2	37	CCDS6934.1																																																																																				0.567	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		A	133543580	C	A	133543580	2	1	408	1	0	0	0	0	0	0	0	1	12458	874	31	4		4	PRDM12	9	133543580	Silent	SNP	C	TCGA-BP-4999-01A-01D-1462-08	92770830	133543580	7669851	28	22471											
HHEX	3087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	94454334	94454334	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr10:94454334C>G	ENST00000282728.5	+	4	2421	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V	HHEX_ENST00000472590.2_Missense_Mutation_p.L36V|HHEX_ENST00000492654.2_Missense_Mutation_p.L36V	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	208					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L208V(1)		kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AAAAGAAGAACTGGAAAGTTT	0.403																																																1	Substitution - Missense(1)	kidney(1)											77	80	79					10																	94454334		2203	4300	6503	SO:0001583	missense	3087			Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.622C>G	10.37:g.94454334C>G	ENSP00000282728:p.Leu208Val		B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727497	0.30593	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91011	-2.77;-1.67;-1.67	5.34	3.33	0.38152	.	0.636443	0.14858	N	0.294221	T	0.78799	0.4340	N	0.19112	0.55	0.25072	N	0.990985	B	0.10296	0.003	B	0.09377	0.004	T	0.62348	-0.6873	10	0.30078	T	0.28	-6.1972	0.7976	0.01069	0.1684:0.3846:0.1895:0.2575	.	208	Q03014	HHEX_HUMAN	V	208;36;36	ENSP00000282728:L208V;ENSP00000450017:L36V;ENSP00000447953:L36V	ENSP00000282728:L208V	L	+	1	2	HHEX	94444314	0.988000	0.35896	1.000000	0.80357	0.985000	0.73830	0.698000	0.25571	1.467000	0.48044	0.655000	0.94253	CTG		0.403	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			G	94454334	C	G	94454334	3	3	408	1	0	0	0	0	1	0	0	0	7093	564	20	4	636	4	HHEX	10	94454334	Missense_Mutation	SNP	C	TCGA-BP-4999-01A-01D-1462-08		94454334	41080413	29	22472											
TALDO1	6888	broad.mit.edu	37	11	747520	747520	+	Silent	SNP	C	C	T			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr11:747520C>T	ENST00000319006.3	+	1	192	c.39C>T	c.(37-39)tcC>tcT	p.S13S	TALDO1_ENST00000528097.1_Silent_p.S13S			P37837	TALDO_HUMAN	transaldolase 1	13					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)	p.S13S(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GGATGGAGTCCGCGCTGGACC	0.736																																																1	Substitution - coding silent(1)	kidney(1)											22	20	20					11																	747520		2193	4289	6482	SO:0001819	synonymous_variant	6888				CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.39C>T	11.37:g.747520C>T			B2R8M2|O00751|Q8WV32|Q8WZ45	Silent	SNP	ENST00000319006.3	37	CCDS7712.1																																																																																				0.736	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		T	747520	C	T	747520	2	4	408	1	0	0	0	0	0	0	0	1	15548	639	23	1		1	TALDO1	11	747520	Silent	SNP	C	TCGA-BP-4999-01A-01D-1462-08		747520	134258996	30	22473											
EIF4G2	1982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	10825853	10825853	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr11:10825853G>C	ENST00000526148.1	-	6	974	c.464C>G	c.(463-465)cCa>cGa	p.P155R	SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P155R|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P155R|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P155R|EIF4G2_ENST00000525995.1_5'Flank	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.P155R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTTCTGTCCTGGTTGACCCTC	0.428																																																1	Substitution - Missense(1)	kidney(1)											151	139	143					11																	10825853		2201	4294	6495	SO:0001583	missense	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.464C>G	11.37:g.10825853G>C	ENSP00000433664:p.Pro155Arg			Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425881	0.62733	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082;ENST00000524932;ENST00000527419	T;T;T;T;T;T;T;T	0.41400	2.13;2.13;2.13;2.13;1.83;1.89;1.87;1.0	5.67	5.67	0.87782	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.150571	0.64402	D	0.000010	T	0.43743	0.1261	L	0.61036	1.89	0.40073	D	0.976040	P;P	0.38677	0.491;0.642	B;B	0.36378	0.124;0.223	T	0.38373	-0.9664	9	0.22706	T	0.39	-1.5291	20.1358	0.98028	0.0:0.0:1.0:0.0	.	155;228	P78344;B4DZF2	IF4G2_HUMAN;.	R	155;155;155;155;228;155;155;155;86	ENSP00000433664:P155R;ENSP00000433371:P155R;ENSP00000340281:P155R;ENSP00000379778:P155R;ENSP00000431583:P155R;ENSP00000433121:P155R;ENSP00000435523:P155R;ENSP00000434940:P86R	ENSP00000340281:P155R	P	-	2	0	EIF4G2	10782429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.709000	0.74665	2.833000	0.97629	0.585000	0.79938	CCA		0.428	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		C	10825853	G	C	10825853	3	2	408	1	0	0	0	0	1	0	0	0	5039	1348	47	4	2327	4	EIF4G2	11	10825853	Missense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08	10078333	10825853	124180663	31	22474											
ACTN3	89	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66322058	66322058	+	RNA	SNP	C	C	T	rs370740496		TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr11:66322058C>T	ENST00000502692.1	+	0	766				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.P173L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AAGACAGCACCGTACCGCAAC	0.587																																																1	Substitution - Missense(1)	kidney(1)						C	LEU/PRO	1,4265		0,1,2132	67	75	73		521	4.7	0.1	11		73	0,8522		0,0,4261	no	missense	ACTN3	NM_001104.1	98	0,1,6393	TT,TC,CC		0.0,0.0234,0.0078	probably-damaging	174/902	66322058	1,12787	2133	4261	6394			89			M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"actinin, alpha 3"			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66322058C>T			A6NP77|Q4KKV2	Missense_Mutation	SNP	ENST00000502692.1	37																																																																																					0.587	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		T	66322058	C	T	66322058	1	4	408	0	1	0	0	0	0	0	0	0	206	652	23	1		1	ACTN3	11	66322058	RNA	SNP	C	TCGA-BP-4999-01A-01D-1462-08	55496205	66322058	68684458	32	22475											
INPPL1	3636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	71948448	71948448	+	Missense_Mutation	SNP	C	C	G	rs374103936		TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr11:71948448C>G	ENST00000298229.2	+	26	3364	c.3160C>G	c.(3160-3162)Cca>Gca	p.P1054A	INPPL1_ENST00000541756.1_Missense_Mutation_p.P812A|INPPL1_ENST00000538751.1_Missense_Mutation_p.P812A|PHOX2A_ENST00000544057.1_5'Flank	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1054	Pro-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.P1054A(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCAGACTTTCCACCTCCACC	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17184	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	ALA/PRO	1,4399	2.1+/-5.4	0,1,2199	56	57	56		3160	4.8	1	11		56	0,8586		0,0,4293	no	missense	INPPL1	NM_001567.3	27	0,1,6492	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging	1054/1259	71948448	1,12985	2200	4293	6493	SO:0001583	missense	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3160C>G	11.37:g.71948448C>G	ENSP00000298229:p.Pro1054Ala		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	13.55	2.272065	0.40194	2.27E-4	0.0	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751;ENST00000541752	D;D;D;T	0.96967	-3.05;-4.19;-4.19;-0.06	4.85	4.85	0.62838	.	0.070851	0.56097	D	0.000028	D	0.91513	0.7320	N	0.24115	0.695	0.51012	D	0.999906	P	0.46987	0.888	B	0.41374	0.355	D	0.90289	0.4321	10	0.10636	T	0.68	.	15.505	0.75731	0.0:1.0:0.0:0.0	.	1054	O15357	SHIP2_HUMAN	A	1054;812;812;67	ENSP00000298229:P1054A;ENSP00000446360:P812A;ENSP00000444619:P812A;ENSP00000441094:P67A	ENSP00000298229:P1054A	P	+	1	0	INPPL1	71626096	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	4.834000	0.62774	2.513000	0.84729	0.563000	0.77884	CCA		0.662	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		G	71948448	C	G	71948448	3	3	408	1	0	0	0	0	1	0	0	0	7763	855	30	4	3262	4	INPPL1	11	71948448	Missense_Mutation	SNP	C	TCGA-BP-4999-01A-01D-1462-08	5626390	71948448	63058068	33	22476											
THY1	7070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119290972	119290972	+	Silent	SNP	C	C	G	rs199847788		TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr11:119290972C>G	ENST00000284240.5	-	3	1201	c.162G>C	c.(160-162)ctG>ctC	p.L54L	USP2-AS1_ENST00000498979.2_RNA|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000528522.1_Silent_p.L54L|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|RP11-334E6.12_ENST00000578216.1_RNA|THY1_ENST00000580275.1_Silent_p.L37L|THY1_ENST00000527590.1_5'UTR	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	54	Ig-like V-type.			LT -> AP (in Ref. 5). {ECO:0000305}.	angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)	p.L54L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		TCTCACGGGTCAGGCTGAACT	0.562																																																1	Substitution - coding silent(1)	kidney(1)											214	189	197					11																	119290972		2199	4295	6494	SO:0001819	synonymous_variant	7070			M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.162G>C	11.37:g.119290972C>G			Q16008|Q9NSP1	Silent	SNP	ENST00000284240.5	37	CCDS8424.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221554	0.22457	.	.	ENSG00000154096	ENST00000527590	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.557	11.8965	0.52659	0.0:0.8091:0.1909:0.0	.	.	.	.	S	62	.	.	X	-	2	2	THY1	118796182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.675000	0.37555	2.302000	0.77476	0.591000	0.81541	TGA		0.562	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		G	119290972	C	G	119290972	2	3	408	1	0	0	0	0	0	0	0	1	15890	813	29	4		4	THY1	11	119290972	Silent	SNP	C	TCGA-BP-4999-01A-01D-1462-08	47342524	119290972	15715544	34	22477											
RAB21	23011	hgsc.bcm.edu;ucsc.edu	37	12	72164429	72164431	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr12:72164429_72164431delAAT	ENST00000261263.3	+	3	533_535	c.277_279delAAT	c.(277-279)aatdel	p.N93del		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	93					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)	6						CAGAGATTCAAATGGAGCGATTT	0.335																																																0																																										SO:0001651	inframe_deletion	23011			AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"RAB, member RAS oncogene"	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.277_279delAAT	12.37:g.72164429_72164431delAAT	ENSP00000261263:p.Asn93del		Q14466|Q569H3	In_Frame_Del	DEL	ENST00000261263.3	37	CCDS9003.1																																																																																				0.335	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404855.1			-	72164431	AAT	-	72164429	7	5	408	1	0	1	0	1	0	0	0	0	12914	14	1	0	287	0	RAB21	12	72164429	In_Frame_Del	DEL	AAT	TCGA-BP-4999-01A-01D-1462-08		72164429	61687466	35	22478											
CLIP1	6249	hgsc.bcm.edu	37	12	122845659	122845660	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr12:122845659_122845660insG	ENST00000540338.1	-	4	892_893	c.851_852insC	c.(850-852)cctfs	p.P284fs	CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.P284fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P284fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P284fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P284fs|CLIP1_ENST00000545889.1_5'UTR			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	284					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTGTAGTGGAAGGGAAGCCAAT	0.5																																																0																																										SO:0001589	frameshift_variant	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.852dupC	12.37:g.122845662_122845662dupG	ENSP00000439093:p.Pro284fs		A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	CCDS58285.1																																																																																				0.5	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		G	122845660	-	G	122845659	7	5	408	1	0	1	1	0	0	0	0	0	3534	59	3	0	3515	0	CLIP1	12	122845659	Frame_Shift_Ins	INS	-	TCGA-BP-4999-01A-01D-1462-08	50681230	122845659	11006236	36	22479											
PDS5B	23047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33222938	33222938	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr13:33222938A>C	ENST00000315596.10	+	2	215	c.29A>C	c.(28-30)gAt>gCt	p.D10A		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	10					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.D10A(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGGACCAATGATGGAAAAATT	0.328																																																1	Substitution - Missense(1)	kidney(1)											119	118	118					13																	33222938		1828	4068	5896	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.29A>C	13.37:g.33222938A>C	ENSP00000313851:p.Asp10Ala		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722486	0.89298	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	L	0.51422	1.61	0.80722	D	1	D;D;P	0.63880	0.993;0.971;0.951	D;P;P	0.62955	0.909;0.641;0.702	T	0.63616	-0.6597	9	0.23891	T	0.37	-3.5545	15.508	0.75757	1.0:0.0:0.0:0.0	.	10;10;10	Q9NTI5;Q9NTI5-3;Q9NTI5-4	PDS5B_HUMAN;.;.	A	10	.	ENSP00000313851:D10A	D	+	2	0	PDS5B	32120938	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.134000	0.94467	2.060000	0.61445	0.482000	0.46254	GAT		0.328	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		C	33222938	A	C	33222938	3	2	408	1	0	0	0	0	1	0	0	0	11694	333	12	5	31	5	PDS5B	13	33222938	Missense_Mutation	SNP	A	TCGA-BP-4999-01A-01D-1462-08		33222938	81946940	37	22480											
PDS5B	23047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33316758	33316758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr13:33316758G>A	ENST00000315596.10	+	23	2691	c.2505G>A	c.(2503-2505)tgG>tgA	p.W835*		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	835					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.W835*(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TGGTTCGATGGCTACTTGGAA	0.328																																																1	Substitution - Nonsense(1)	kidney(1)											122	112	115					13																	33316758		1842	4094	5936	SO:0001587	stop_gained	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2505G>A	13.37:g.33316758G>A	ENSP00000313851:p.Trp835*		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Nonsense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	40	8.437184	0.98810	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-14.1014	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	X	835	.	ENSP00000313851:W835X	W	+	3	0	PDS5B	32214758	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.814000	0.96858	0.591000	0.81541	TGG		0.328	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		A	33316758	G	A	33316758	4	1	408	1	0	0	0	0	0	1	0	0	11694	1212	42	2	2591	2	PDS5B	13	33316758	Nonsense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08	93820	33316758	81853120	38	22481											
OR10G3	26533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	22038804	22038804	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr14:22038804C>A	ENST00000303532.1	-	1	71	c.72G>T	c.(70-72)agG>agT	p.R24S		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R24S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AAAAGAGTGTCCTTAGCCTGA	0.443																																																1	Substitution - Missense(1)	kidney(1)											80	79	80					14																	22038804		2203	4300	6503	SO:0001583	missense	26533				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.72G>T	14.37:g.22038804C>A	ENSP00000302437:p.Arg24Ser		Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	C	2.858	-0.236705	0.05944	.	.	ENSG00000169208	ENST00000303532	T	0.02737	4.18	4.33	-1.65	0.08291	.	0.000000	0.52532	D	0.000079	T	0.02929	0.0087	L	0.46157	1.445	0.09310	N	0.999998	B	0.12630	0.006	B	0.12156	0.007	T	0.36768	-0.9734	10	0.48119	T	0.1	-10.9123	9.1233	0.36799	0.0:0.3889:0.0:0.6111	.	24	Q8NGC4	O10G3_HUMAN	S	24	ENSP00000302437:R24S	ENSP00000302437:R24S	R	-	3	2	OR10G3	21108644	0.000000	0.05858	0.166000	0.22797	0.091000	0.18340	-0.907000	0.04067	-0.294000	0.08973	-0.237000	0.12165	AGG		0.443	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			A	22038804	C	A	22038804	3	1	408	1	0	0	0	0	1	0	0	0	10902	854	30	4	872	4	OR10G3	14	22038804	Missense_Mutation	SNP	C	TCGA-BP-4999-01A-01D-1462-08		22038804	85310736	39	22482											
RDH11	51109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68151872	68151872	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr14:68151872T>A	ENST00000381346.4	-	6	824	c.714A>T	c.(712-714)gaA>gaT	p.E238D	RP11-1012A1.4_ENST00000554493.1_5'UTR|RP11-1012A1.4_ENST00000553306.1_Missense_Mutation_p.N69I|RDH11_ENST00000553384.1_Missense_Mutation_p.E225D|RDH11_ENST00000428130.2_Missense_Mutation_p.E168D	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	238					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.E238D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GCCGAACCAGTTCAGATTGGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											94	78	84					14																	68151872		2203	4300	6503	SO:0001583	missense	51109			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	17964	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 1", "androgen-regulated short-chain dehydrogenase/reductase 1"	607849	"retinol dehydrogenase 11 (all-trans and 9-cis)"			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.714A>T	14.37:g.68151872T>A	ENSP00000370750:p.Glu238Asp		A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	37	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336356	0.60963	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035;ENST00000557273;ENST00000557726	D;D;D;D;D;T	0.89415	-2.51;-2.51;-2.51;-2.51;-2.26;1.99	5.07	1.12	0.20585	NAD(P)-binding domain (1);	0.099482	0.64402	D	0.000002	T	0.77054	0.4074	N	0.25890	0.77	0.18873	N	0.999986	B;B;B	0.14805	0.011;0.008;0.004	B;B;B	0.15870	0.012;0.014;0.006	T	0.61855	-0.6977	10	0.33940	T	0.23	.	3.7489	0.08559	0.2361:0.2277:0.0:0.5362	.	168;225;238	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	D	238;225;168;124;151;186	ENSP00000370750:E238D;ENSP00000452079:E225D;ENSP00000416395:E168D;ENSP00000450802:E124D;ENSP00000450651:E151D;ENSP00000450435:E186D	ENSP00000370750:E238D	E	-	3	2	RDH11	67221625	0.274000	0.24191	0.054000	0.19295	0.887000	0.51463	-0.331000	0.07914	0.381000	0.24851	0.482000	0.46254	GAA		0.522	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			A	68151872	T	A	68151872	3	1	408	1	0	0	0	0	1	0	0	0	13196	1722	60	5	250	5	RDH11	14	68151872	Missense_Mutation	SNP	T	TCGA-BP-4999-01A-01D-1462-08	46113068	68151872	39197668	40	22483											
RYR3	6263	broad.mit.edu	37	15	34119402	34119402	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr15:34119402delT	ENST00000389232.4	+	85	11318	c.11248delT	c.(11248-11250)tttfs	p.F3750fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.F3745fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3750					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)		GCTCTCAGACTTTCAGAACTT	0.557																																																0													49	53	52					15																	34119402		1983	3988	5971	SO:0001589	frameshift_variant	6263				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.11248delT	15.37:g.34119402delT	ENSP00000373884:p.Phe3750fs		O15175|Q15412	Frame_Shift_Del	DEL	ENST00000389232.4	37	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			-	34119402	T	-	34119402	7	5	408	1	0	1	0	1	0	0	0	0	13776	1609	56	0	11586	0	RYR3	15	34119402	Frame_Shift_Del	DEL	T	TCGA-BP-4999-01A-01D-1462-08		34119402	68411990	41	22484											
ZFYVE19	84936	broad.mit.edu;hgsc.bcm.edu	37	15	41105065	41105065	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr15:41105065G>T	ENST00000355341.4	+	7	1496	c.995G>T	c.(994-996)cGa>cTa	p.R332L	ZFYVE19_ENST00000299173.10_Intron|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.R157L|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.R309L|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.R322L	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	332					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)	p.R332L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGGCCAAGCGACTAGCCATG	0.627																																																1	Substitution - Missense(1)	kidney(1)											54	64	61					15																	41105065		2057	4190	6247	SO:0001583	missense	84936			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.995G>T	15.37:g.41105065G>T	ENSP00000347498:p.Arg332Leu		B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Missense_Mutation	SNP	ENST00000355341.4	37	CCDS42025.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013066	0.75161	.	.	ENSG00000166140	ENST00000355341;ENST00000336455	T;T	0.25579	1.79;1.79	5.41	4.49	0.54785	.	0.097794	0.64402	D	0.000002	T	0.49966	0.1588	M	0.78456	2.415	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.951;0.974	T	0.52983	-0.8502	10	0.62326	D	0.03	-18.7505	13.4047	0.60906	0.0788:0.0:0.9212:0.0	.	322;332	Q96K21-2;Q96K21	.;ZFY19_HUMAN	L	332;322	ENSP00000347498:R332L;ENSP00000337824:R322L	ENSP00000337824:R322L	R	+	2	0	ZFYVE19	38892357	1.000000	0.71417	0.985000	0.45067	0.310000	0.27922	5.327000	0.65881	2.534000	0.85438	0.555000	0.69702	CGA		0.627	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		T	41105065	G	T	41105065	3	4	408	1	0	0	0	0	1	0	0	0	17670	1058	37	4	1021	4	ZFYVE19	15	41105065	Missense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08	6985663	41105065	61426327	42	22485											
RFX7	64864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56390306	56390306	+	Silent	SNP	A	A	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr15:56390306A>G	ENST00000559447.2	-	8	1060	c.789T>C	c.(787-789)gtT>gtC	p.V263V	RFX7_ENST00000317318.6_Silent_p.V360V|RFX7_ENST00000423270.1_Silent_p.V360V|RFX7_ENST00000422057.1_Silent_p.V263V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	263					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V360V(1)|p.V263V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAGCTGCCACAACGATACCAA	0.398																																																2	Substitution - coding silent(2)	kidney(2)											91	87	88					15																	56390306		1864	4094	5958	SO:0001819	synonymous_variant	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.789T>C	15.37:g.56390306A>G			Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37																																																																																					0.398	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		G	56390306	A	G	56390306	2	3	408	1	0	0	0	0	0	0	0	1	13274	117	5	3		3	RFX7	15	56390306	Silent	SNP	A	TCGA-BP-4999-01A-01D-1462-08	15285241	56390306	46141086	43	22486											
ZC3H7A	29066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	11873154	11873154	+	Silent	SNP	A	A	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr16:11873154A>G	ENST00000396516.2	-	3	371	c.174T>C	c.(172-174)gaT>gaC	p.D58D	ZC3H7A_ENST00000355758.4_Silent_p.D58D|ZC3H7A_ENST00000575170.1_5'UTR			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	58						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D58D(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AGTTGTTCCAATCATGTTCCC	0.333																																																1	Substitution - coding silent(1)	kidney(1)											137	143	141					16																	11873154		2196	4300	6496	SO:0001819	synonymous_variant	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.174T>C	16.37:g.11873154A>G			D3DUG5|Q9NPE9	Silent	SNP	ENST00000396516.2	37	CCDS10550.1																																																																																				0.333	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		G	11873154	A	G	11873154	2	3	408	1	0	0	0	0	0	0	0	1	17577	98	4	3		3	ZC3H7A	16	11873154	Silent	SNP	A	TCGA-BP-4999-01A-01D-1462-08		11873154	78481599	44	22487											
SETD1A	9739	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30977377	30977377	+	Silent	SNP	C	C	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr16:30977377C>G	ENST00000262519.8	+	8	2861	c.2175C>G	c.(2173-2175)gcC>gcG	p.A725A		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	725					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A725A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGAGGCAGCCTACGGCTTGC	0.677																																																1	Substitution - coding silent(1)	kidney(1)											38	43	41					16																	30977377		2178	4271	6449	SO:0001819	synonymous_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2175C>G	16.37:g.30977377C>G			A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	CCDS32435.1																																																																																				0.677	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		G	30977377	C	G	30977377	2	3	408	1	0	0	0	0	0	0	0	1	14136	668	24	4		4	SETD1A	16	30977377	Silent	SNP	C	TCGA-BP-4999-01A-01D-1462-08	19104223	30977377	59377376	45	22488											
CCT6B	10693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33269618	33269618	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr17:33269618T>A	ENST00000314144.5	-	7	885	c.770A>T	c.(769-771)gAg>gTg	p.E257V	CCT6B_ENST00000421975.3_Missense_Mutation_p.E220V|CCT6B_ENST00000436961.3_Missense_Mutation_p.E212V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	257					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)	p.E257V(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TACCAATTTCTCTTTCTCTTC	0.323																																																1	Substitution - Missense(1)	kidney(1)											64	61	62					17																	33269618		2203	4297	6500	SO:0001583	missense	10693			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.770A>T	17.37:g.33269618T>A	ENSP00000327191:p.Glu257Val		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.324065	0.60634	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.80033	-1.33;-1.33;-1.33	4.06	4.06	0.47325	.	0.094349	0.64402	D	0.000001	D	0.92133	0.7506	H	0.97611	4.04	0.80722	D	1	P;P;P	0.52061	0.925;0.927;0.95	P;P;D	0.64410	0.865;0.905;0.925	D	0.93697	0.7012	10	0.72032	D	0.01	-8.4011	11.2674	0.49118	0.0:0.0:0.0:1.0	.	212;220;257	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	V	220;257;212	ENSP00000398044:E220V;ENSP00000327191:E257V;ENSP00000400917:E212V	ENSP00000327191:E257V	E	-	2	0	CCT6B	30293731	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	7.230000	0.78097	1.801000	0.52704	0.482000	0.46254	GAG		0.323	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		A	33269618	T	A	33269618	3	1	408	1	0	0	0	0	1	0	0	0	2960	1551	54	5	854	5	CCT6B	17	33269618	Missense_Mutation	SNP	T	TCGA-BP-4999-01A-01D-1462-08		33269618	47925592	46	22489											
KRT24	192666	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38859430	38859430	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr17:38859430G>C	ENST00000264651.2	-	1	572	c.516C>G	c.(514-516)atC>atG	p.I172M		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	172	Coil 1A.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)	p.I172M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ACCACTCCTTGATTTTGTTCT	0.463																																					GBM(61;380 1051 14702 23642 31441)											1	Substitution - Missense(1)	kidney(1)											191	188	189					17																	38859430		2203	4300	6503	SO:0001583	missense	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.516C>G	17.37:g.38859430G>C	ENSP00000264651:p.Ile172Met		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854315	0.71719	.	.	ENSG00000167916	ENST00000264651	D	0.90197	-2.63	5.6	3.63	0.41609	Filament (1);	.	.	.	.	D	0.96873	0.8979	H	0.98849	4.35	0.45515	D	0.998478	D	0.89917	1.0	D	0.97110	1.0	D	0.95785	0.8820	9	0.87932	D	0	.	8.8096	0.34959	0.2279:0.0:0.7721:0.0	.	172	Q2M2I5	K1C24_HUMAN	M	172	ENSP00000264651:I172M	ENSP00000264651:I172M	I	-	3	3	KRT24	36112956	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.082000	0.57635	0.847000	0.35167	0.655000	0.94253	ATC		0.463	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		C	38859430	G	C	38859430	3	2	408	1	0	0	0	0	1	0	0	0	8463	1280	45	4	1093	4	KRT24	17	38859430	Missense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08	5589812	38859430	42335780	47	22490											
APOH	350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	64216834	64216834	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr17:64216834G>T	ENST00000205948.6	-	5	479	c.442C>A	c.(442-444)Cct>Act	p.P148T		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	148	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.P148T(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCAAACGTAGGTATGGATGGT	0.383																																					Melanoma(155;624 1882 16869 48804 51309)											1	Substitution - Missense(1)	kidney(1)											99	98	98					17																	64216834		2203	4300	6503	SO:0001583	missense	350				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.442C>A	17.37:g.64216834G>T	ENSP00000205948:p.Pro148Thr		B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	g	3.353	-0.132105	0.06753	.	.	ENSG00000091583	ENST00000205948	T	0.64803	-0.12	5.42	5.42	0.78866	Complement control module (2);Sushi/SCR/CCP (3);	0.051779	0.85682	D	0.000000	T	0.79828	0.4513	M	0.90650	3.135	0.41720	D	0.989508	D	0.71674	0.998	D	0.66716	0.946	T	0.80034	-0.1551	10	0.27785	T	0.31	.	12.1587	0.54091	0.0833:0.0:0.9167:0.0	.	148	P02749	APOH_HUMAN	T	148	ENSP00000205948:P148T	ENSP00000205948:P148T	P	-	1	0	APOH	61647296	0.998000	0.40836	0.179000	0.23059	0.004000	0.04260	3.065000	0.49994	2.543000	0.85770	0.563000	0.77884	CCT		0.383	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		T	64216834	G	T	64216834	3	4	408	1	0	0	0	0	1	0	0	0	804	1261	44	4	611	4	APOH	17	64216834	Missense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08	25357404	64216834	16978376	48	22491											
COG1	9382	hgsc.bcm.edu;ucsc.edu	37	17	71197678	71197678	+	Frame_Shift_Del	DEL	G	G	-	rs141750466	byFrequency	TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr17:71197678delG	ENST00000299886.4	+	7	1792	c.1712delG	c.(1711-1713)cggfs	p.R571fs		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	571					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGATGCTGCGGACTCAGTCC	0.567																																																0													94	78	84					17																	71197678		2203	4300	6503	SO:0001589	frameshift_variant	9382				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1712delG	17.37:g.71197678delG	ENSP00000299886:p.Arg571fs		Q9NPV9|Q9P2G6	Frame_Shift_Del	DEL	ENST00000299886.4	37	CCDS11692.1																																																																																				0.567	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			-	71197678	G	-	71197678	7	5	408	1	0	1	0	1	0	0	0	0	3659	1116	39	0	1738	0	COG1	17	71197678	Frame_Shift_Del	DEL	G	TCGA-BP-4999-01A-01D-1462-08	6980844	71197678	9997532	49	22492											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9070296	9070296	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr19:9070296T>G	ENST00000397910.4	-	3	17353	c.17150A>C	c.(17149-17151)aAc>aCc	p.N5717T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5719	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.N5717T(2)|p.N1350T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTGCAGTGTTTGTATGCAT	0.498																																																3	Substitution - Missense(3)	kidney(3)											160	156	157					19																	9070296		2099	4224	6323	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17150A>C	19.37:g.9070296T>G	ENSP00000381008:p.Asn5717Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.328	-0.137256	0.06711	.	.	ENSG00000181143	ENST00000397910	T	0.26067	1.76	1.54	1.54	0.23209	.	.	.	.	.	T	0.15262	0.0368	L	0.39898	1.24	.	.	.	P	0.50710	0.938	B	0.34931	0.192	T	0.23691	-1.0181	8	0.87932	D	0	.	5.1848	0.15178	0.0:0.0:0.0:1.0	.	5717	B5ME49	.	T	5717	ENSP00000381008:N5717T	ENSP00000381008:N5717T	N	-	2	0	MUC16	8931296	0.017000	0.18338	0.001000	0.08648	0.002000	0.02628	-0.820000	0.04457	0.983000	0.38602	0.379000	0.24179	AAC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9070296	T	G	9070296	3	3	408	1	0	0	0	0	1	0	0	0	9975	1725	60	5	26701	5	MUC16	19	9070296	Missense_Mutation	SNP	T	TCGA-BP-4999-01A-01D-1462-08		9070296	50058687	50	22493											
TMEM59L	25789	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18724826	18724826	+	Splice_Site	SNP	G	G	C			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr19:18724826G>C	ENST00000600490.1	+	3	501	c.316G>C	c.(316-318)Gcc>Ccc	p.A106P	TMEM59L_ENST00000262817.3_Splice_Site_p.A106P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	106						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A106P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GTGTGAAGCAGGTGAGGGCCC	0.667																																																1	Substitution - Missense(1)	kidney(1)											35	39	38					19																	18724826		2203	4300	6503	SO:0001630	splice_region_variant	25789			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 4"	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.316+1G>C	19.37:g.18724826G>C				Missense_Mutation	SNP	ENST00000600490.1	37	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111816	0.94339	.	.	ENSG00000105696	ENST00000262817	T	0.54071	0.59	4.48	4.48	0.54585	.	0.054327	0.64402	D	0.000001	T	0.70491	0.3230	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74870	-0.3517	10	0.72032	D	0.01	-25.4767	15.7214	0.77713	0.0:0.0:1.0:0.0	.	106	Q9UK28	TM59L_HUMAN	P	106	ENSP00000262817:A106P	ENSP00000262817:A106P	A	+	1	0	TMEM59L	18585826	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.055000	0.57441	2.020000	0.59435	0.561000	0.74099	GCC		0.667	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2		Missense_Mutation	C	18724826	G	C	18724826	5	2	408	1	0	0	0	0	0	0	1	0	16191	1014	35	4	322	4	TMEM59L	19	18724826	Splice_Site	SNP	G	TCGA-BP-4999-01A-01D-1462-08	9654530	18724826	40404157	51	22494											
ZNF607	84775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38190552	38190552	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr19:38190552A>T	ENST00000355202.4	-	5	1075	c.480T>A	c.(478-480)caT>caA	p.H160Q	ZNF607_ENST00000395835.3_Missense_Mutation_p.H159Q|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H160Q(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TAATTTTCTGATGCTTTCTAA	0.388																																																1	Substitution - Missense(1)	kidney(1)											127	119	122					19																	38190552		2203	4300	6503	SO:0001583	missense	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.480T>A	19.37:g.38190552A>T	ENSP00000347338:p.His160Gln		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.327932	0.60743	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	D;D	0.86865	-2.18;-2.18	2.07	2.07	0.26955	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93462	0.7914	M	0.90595	3.13	0.24387	N	0.994761	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84219	0.0460	9	0.62326	D	0.03	.	8.8596	0.35249	1.0:0.0:0.0:0.0	.	160;159	Q96SK3;F5H141	ZN607_HUMAN;.	Q	160;159	ENSP00000347338:H160Q;ENSP00000438015:H159Q	ENSP00000347338:H160Q	H	-	3	2	ZNF607	42882392	0.006000	0.16342	0.024000	0.17045	0.643000	0.38383	0.047000	0.14056	0.942000	0.37525	0.402000	0.26972	CAT		0.388	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		T	38190552	A	T	38190552	3	4	408	1	0	0	0	0	1	0	0	0	18038	330	12	5	1614	5	ZNF607	19	38190552	Missense_Mutation	SNP	A	TCGA-BP-4999-01A-01D-1462-08	19465726	38190552	20938431	52	22495											
MZF1	7593	broad.mit.edu	37	19	59073897	59073897	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr19:59073897T>C	ENST00000215057.2	-	6	2307	c.1747A>G	c.(1747-1749)Acg>Gcg	p.T583A	MZF1_ENST00000599369.1_Missense_Mutation_p.T583A|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	583					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T583A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TGCGTGAGCGTAGGCCGCTGG	0.687																																																1	Substitution - Missense(1)	kidney(1)											20	19	19					19																	59073897		2202	4298	6500	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1747A>G	19.37:g.59073897T>C	ENSP00000215057:p.Thr583Ala		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.148775	0.37923	.	.	ENSG00000099326	ENST00000215057	T	0.06849	3.25	3.45	2.43	0.29744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.190605	0.25909	N	0.027505	T	0.02571	0.0078	N	0.01202	-0.96	0.19775	N	0.99995	B	0.12013	0.005	B	0.12156	0.007	T	0.44003	-0.9356	10	0.27785	T	0.31	-6.6904	7.137	0.25533	0.0:0.1144:0.0:0.8856	.	583	P28698	MZF1_HUMAN	A	583	ENSP00000215057:T583A	ENSP00000215057:T583A	T	-	1	0	MZF1	63765709	0.000000	0.05858	0.999000	0.59377	0.965000	0.64279	-0.250000	0.08830	0.690000	0.31570	0.379000	0.24179	ACG		0.687	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		C	59073897	T	C	59073897	3	2	408	1	0	0	0	0	1	0	0	0	10110	1638	57	3	461	3	MZF1	19	59073897	Missense_Mutation	SNP	T	TCGA-BP-4999-01A-01D-1462-08	20883345	59073897	55086	53	22496											
PYGB	5834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	25249816	25249816	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr20:25249816G>T	ENST00000216962.4	+	3	507	c.397G>T	c.(397-399)Ggg>Tgg	p.G133W		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	133					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)	p.G133W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TGCTGGCCTTGGGAATGGAGG	0.542																																																1	Substitution - Missense(1)	kidney(1)											84	91	88					20																	25249816		2203	4300	6503	SO:0001583	missense	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.397G>T	20.37:g.25249816G>T	ENSP00000216962:p.Gly133Trp		Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477873	0.84747	.	.	ENSG00000100994	ENST00000216962	D	0.97303	-4.33	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98669	1.0687	10	0.87932	D	0	-30.3435	16.6438	0.85155	0.0:0.0:1.0:0.0	.	133	P11216	PYGB_HUMAN	W	133	ENSP00000216962:G133W	ENSP00000216962:G133W	G	+	1	0	PYGB	25197816	1.000000	0.71417	0.859000	0.33776	0.988000	0.76386	9.486000	0.97944	2.314000	0.78098	0.484000	0.47621	GGG		0.542	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		T	25249816	G	T	25249816	3	4	408	1	0	0	0	0	1	0	0	0	12866	1348	47	4	407	4	PYGB	20	25249816	Missense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08		25249816	37775704	54	22497											
MYH9	4627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	36693020	36693020	+	Silent	SNP	C	C	T			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chr22:36693020C>T	ENST00000216181.5	-	25	3371	c.3141G>A	c.(3139-3141)gaG>gaA	p.E1047E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1047					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E1047E(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGCGGGTCTTCTCCAGCTCCT	0.632			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	1	Substitution - coding silent(1)	kidney(1)											54	53	53					22																	36693020		2203	4300	6503	SO:0001819	synonymous_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3141G>A	22.37:g.36693020C>T			A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	CCDS13927.1																																																																																				0.632	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		T	36693020	C	T	36693020	2	4	408	1	0	0	0	0	0	0	0	1	10044	912	32	2		2	MYH9	22	36693020	Silent	SNP	C	TCGA-BP-4999-01A-01D-1462-08		36693020	14611546	55	22498											
MAGEA4	4103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151092616	151092616	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4999-01A-01D-1462-08	TCGA-BP-4999-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	86ffb814-7c65-426b-b7b5-7250322c4d01	5f731fb4-2c74-4c8b-b498-7e5d036658a8	g.chrX:151092616G>T	ENST00000360243.2	+	3	747	c.480G>T	c.(478-480)aaG>aaT	p.K160N	MAGEA4_ENST00000276344.2_Missense_Mutation_p.K160N|MAGEA4_ENST00000370335.1_Missense_Mutation_p.K160N|MAGEA4_ENST00000370340.3_Missense_Mutation_p.K160N|MAGEA4_ENST00000393920.1_Missense_Mutation_p.K160N|MAGEA4_ENST00000393921.1_Missense_Mutation_p.K160N|MAGEA4_ENST00000370337.4_Missense_Mutation_p.K160N	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	160	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.K160N(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCCTGAAGATGATCTTTG	0.522																																																1	Substitution - Missense(1)	kidney(1)											107	105	106					X																	151092616		2203	4300	6503	SO:0001583	missense	4103				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.480G>T	X.37:g.151092616G>T	ENSP00000353379:p.Lys160Asn		Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403286	0.42613	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48	2.37	0.494	0.16884	.	0.614911	0.17092	N	0.187337	T	0.06645	0.0170	L	0.46157	1.445	0.09310	N	1	P	0.42161	0.772	B	0.43838	0.433	T	0.25187	-1.0139	10	0.66056	D	0.02	.	2.6101	0.04889	0.1745:0.0:0.5433:0.2822	.	160	P43358	MAGA4_HUMAN	N	160	ENSP00000387777:K160N;ENSP00000276344:K160N;ENSP00000391904:K160N;ENSP00000377498:K160N;ENSP00000394149:K160N;ENSP00000359362:K160N;ENSP00000402624:K160N;ENSP00000377497:K160N;ENSP00000359365:K160N;ENSP00000394073:K160N;ENSP00000400900:K160N;ENSP00000402186:K160N;ENSP00000359360:K160N;ENSP00000353379:K160N;ENSP00000390096:K160N	ENSP00000276344:K160N	K	+	3	2	MAGEA4	150843272	0.000000	0.05858	0.000000	0.03702	0.453000	0.32348	0.123000	0.15708	0.018000	0.15052	0.292000	0.19580	AAG		0.522	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		T	151092616	G	T	151092616	3	4	408	1	0	0	0	0	1	0	0	0	9170	933	33	4	482	4	MAGEA4	23	151092616	Missense_Mutation	SNP	G	TCGA-BP-4999-01A-01D-1462-08		151092616	4177944	56	22499											
SAMD11	148398	broad.mit.edu	37	1	878409	878409	+	Missense_Mutation	SNP	C	C	T	rs181205550		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:878409C>T	ENST00000342066.3	+	11	1618	c.1535C>T	c.(1534-1536)cCt>cTt	p.P512L		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	512					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)		p.P512L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTGGGCTTCCCTTATGCCGTC	0.677																																																1	Substitution - Missense(1)	kidney(1)											7	8	8					1																	878409		1969	3988	5957	SO:0001583	missense	148398			BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"Sterile alpha motif (SAM) domain containing"	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1535C>T	1.37:g.878409C>T	ENSP00000342313:p.Pro512Leu		A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	CCDS2.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	16.44|16.44	3.123829|3.123829	0.56613|0.56613	.|.	.|.	ENSG00000187634|ENSG00000187634	ENST00000341065;ENST00000455979|ENST00000342066	.|.	.|.	.|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	.|0.134612	.|0.50627	.|D	.|0.000106	T|T	0.77638|0.77638	0.4160|0.4160	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.80679|0.80679	-0.1275|-0.1275	5|9	.|0.72032	.|D	.|0.01	-10.5405|-10.5405	16.7273|16.7273	0.85426|0.85426	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|496;512	.|Q96NU1-1;Q96NU1	.|.;SAM11_HUMAN	F|L	420;339|512	.|.	.|ENSP00000342313:P512L	L|P	+|+	1|2	0|0	SAMD11|SAMD11	868272|868272	0.447000|0.447000	0.25673|0.25673	0.990000|0.990000	0.47175|0.47175	0.582000|0.582000	0.36321|0.36321	2.540000|2.540000	0.45727|0.45727	2.282000|2.282000	0.76494|0.76494	0.306000|0.306000	0.20318|0.20318	CTT|CCT		0.677	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		T	878409	C	T	878409	3	4	409	1	0	0	0	0	1	0	0	0	13822	681	24	2	1573	2	SAMD11	1	878409	Missense_Mutation	SNP	C	TCGA-BP-5000-01A-01D-1462-08		878409	248372212	1	22500											
CDCP2	200008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54605450	54605450	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:54605450C>T	ENST00000371330.1	-	4	1940	c.1093G>A	c.(1093-1095)Ggc>Agc	p.G365S	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	365	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.G365S(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACAGAGAAGCCCCTGCGGGTG	0.622																																																1	Substitution - Missense(1)	kidney(1)											48	52	51					1																	54605450		2203	4300	6503	SO:0001583	missense	200008				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.1093G>A	1.37:g.54605450C>T	ENSP00000360381:p.Gly365Ser		Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	CCDS588.2	.	.	.	.	.	.	.	.	.	.	C	35	5.586439	0.96578	.	.	ENSG00000157211	ENST00000371330	T	0.33438	1.41	5.59	5.59	0.84812	CUB (5);	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81540	-0.0886	10	0.72032	D	0.01	-30.0741	19.6574	0.95849	0.0:1.0:0.0:0.0	.	365	Q5VXM1	CDCP2_HUMAN	S	365	ENSP00000360381:G365S	ENSP00000360381:G365S	G	-	1	0	CDCP2	54378038	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.620000	0.83070	2.651000	0.90000	0.456000	0.33151	GGC		0.622	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		T	54605450	C	T	54605450	3	4	409	1	0	0	0	0	1	0	0	0	3096	623	22	2	260	2	CDCP2	1	54605450	Missense_Mutation	SNP	C	TCGA-BP-5000-01A-01D-1462-08	53727041	54605450	194645171	2	22501											
SPAG17	200162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	118581935	118581935	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:118581935T>G	ENST00000336338.5	-	23	3364	c.3299A>C	c.(3298-3300)gAg>gCg	p.E1100A		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1100						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E1100A(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTTTGTTCCTCATCTCCTTC	0.373																																																1	Substitution - Missense(1)	kidney(1)											146	147	147					1																	118581935		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3299A>C	1.37:g.118581935T>G	ENSP00000337804:p.Glu1100Ala		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	7.472	0.646933	0.14516	.	.	ENSG00000155761	ENST00000336338	T	0.27557	1.66	5.04	-0.324	0.12706	.	0.959087	0.08635	N	0.916410	T	0.08582	0.0213	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.40701	-0.9549	10	0.54805	T	0.06	.	7.4432	0.27196	0.0:0.0758:0.4245:0.4997	.	1100	Q6Q759	SPG17_HUMAN	A	1100	ENSP00000337804:E1100A	ENSP00000337804:E1100A	E	-	2	0	SPAG17	118383458	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.451000	0.06795	-0.214000	0.10078	0.533000	0.62120	GAG		0.373	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		G	118581935	T	G	118581935	3	3	409	1	0	0	0	0	1	0	0	0	14985	1551	54	5	3476	5	SPAG17	1	118581935	Missense_Mutation	SNP	T	TCGA-BP-5000-01A-01D-1462-08	63976485	118581935	130668686	3	22502											
ADAM15	8751	hgsc.bcm.edu;ucsc.edu	37	1	155028946	155028946	+	Splice_Site	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:155028946G>A	ENST00000356955.2	+	10	1100	c.999G>A	c.(997-999)atG>atA	p.M333I	ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Splice_Site_p.M343I|ADAM15_ENST00000355956.2_Splice_Site_p.M333I|ADAM15_ENST00000368412.3_Splice_Site_p.M333I|ADAM15_ENST00000447332.3_Splice_Site_p.M317I|ADAM15_ENST00000271836.6_Splice_Site_p.M333I|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000359280.4_Splice_Site_p.M333I|ADAM15_ENST00000360674.4_Splice_Site_p.M333I|ADAM15_ENST00000449910.2_Splice_Site_p.M333I	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	333	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.M333I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGTGAACATGGTGAGTTATT	0.512																																																1	Substitution - Missense(1)	kidney(1)											112	100	104					1																	155028946		2203	4300	6503	SO:0001630	splice_region_variant	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.999+1G>A	1.37:g.155028946G>A			B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872863	0.72180	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99	5.11	5.11	0.69529	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.117378	0.38720	N	0.001592	T	0.16428	0.0395	L	0.48877	1.53	0.80722	D	1	P;P;P;P;D;P;P;P;D;P;P	0.56968	0.792;0.792;0.792;0.619;0.978;0.753;0.753;0.753;0.978;0.67;0.792	B;B;P;B;P;B;B;B;P;P;B	0.61003	0.411;0.411;0.516;0.381;0.882;0.288;0.288;0.288;0.832;0.516;0.411	T	0.00260	-1.1869	10	0.72032	D	0.01	.	16.0708	0.80928	0.0:0.0:1.0:0.0	.	343;350;317;333;333;333;333;333;333;333;330	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	I	333;333;333;333;333;333;333;343	ENSP00000349436:M333I;ENSP00000403843:M333I;ENSP00000352226:M333I;ENSP00000353892:M333I;ENSP00000357397:M333I;ENSP00000348227:M333I;ENSP00000271836:M333I;ENSP00000432927:M343I	ENSP00000271836:M333I	M	+	3	0	ADAM15	153295570	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.020000	0.76419	2.659000	0.90383	0.655000	0.94253	ATG		0.512	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815	Missense_Mutation	A	155028946	G	A	155028946	5	1	409	1	0	0	0	0	0	0	1	0	237	1362	47	2	1037	2	ADAM15	1	155028946	Splice_Site	SNP	G	TCGA-BP-5000-01A-01D-1462-08	36447011	155028946	94221675	4	22503											
RUSC1	23623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155291906	155291906	+	Silent	SNP	C	C	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:155291906C>A	ENST00000368352.5	+	2	493	c.342C>A	c.(340-342)ccC>ccA	p.P114P	RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Silent_p.P114P|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368347.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	114					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.P114P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ATCTTAGCCCCGATGAGTCCC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											49	52	51					1																	155291906		2054	4197	6251	SO:0001819	synonymous_variant	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.342C>A	1.37:g.155291906C>A			B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																				0.627	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			A	155291906	C	A	155291906	2	1	409	1	0	0	0	0	0	0	0	1	13756	639	23	4		4	RUSC1	1	155291906	Silent	SNP	C	TCGA-BP-5000-01A-01D-1462-08	262960	155291906	93958715	5	22504											
TTC24	164118	hgsc.bcm.edu	37	1	156553232	156553232	+	Frame_Shift_Del	DEL	C	C	-	rs140853435	byFrequency	TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:156553232delC	ENST00000368237.3	+	4	1142	c.1142delC	c.(1141-1143)gccfs	p.A381fs	TTC24_ENST00000478081.1_Intron|TTC24_ENST00000368236.3_Frame_Shift_Del_p.A381fs			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	381										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGCACTGGCCCAGTGTCAG	0.592											OREG0013875	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CCC|CCC|CC|deletion	295	0.0589058	0.0908	0.0418	5008	,	,		14776	0.0258		0.0417	False		,,,				2504	0.0798															0										415,3445		32,351,1547	24	29	27			3.2	0.9	1	dbSNP_134	29	240,7734		7,226,3754	no	frameshift	TTC24	NM_001105669.2		39,577,5301	A1A1,A1R,RR		3.0098,10.7513,5.5349			156553232	655,11179	2000	4169	6169	SO:0001589	frameshift_variant	164118				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1142delC	1.37:g.156553232delC	ENSP00000357220:p.Ala381fs	1779	Q5T3H7	Frame_Shift_Del	DEL	ENST00000368237.3	37	CCDS53379.1																																																																																				0.592	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		-	156553232	C	-	156553232	7	5	409	1	0	1	0	1	0	0	0	0	16697	739	26	0	1156	0	TTC24	1	156553232	Frame_Shift_Del	DEL	C	TCGA-BP-5000-01A-01D-1462-08	1261326	156553232	92697389	6	22505											
RNPEP	6051	hgsc.bcm.edu;ucsc.edu	37	1	201970845	201970845	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:201970845delA	ENST00000295640.4	+	8	1419	c.1376delA	c.(1375-1377)tacfs	p.Y459fs	RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Frame_Shift_Del_p.Y420fs	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	459					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CTGGACTTCTACTTGGAATAT	0.453																																					GBM(19;39 479 7473 13131 19462)											0													133	134	134					1																	201970845		2203	4300	6503	SO:0001589	frameshift_variant	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1376delA	1.37:g.201970845delA	ENSP00000295640:p.Tyr459fs		Q9BVM9|Q9H1D4|Q9NPT7	Frame_Shift_Del	DEL	ENST00000295640.4	37	CCDS1418.1																																																																																				0.453	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		-	201970845	A	-	201970845	7	5	409	1	0	1	0	1	0	0	0	0	13515	391	14	0	1406	0	RNPEP	1	201970845	Frame_Shift_Del	DEL	A	TCGA-BP-5000-01A-01D-1462-08	45417613	201970845	47279776	7	22506											
LBR	3930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	225599096	225599096	+	Silent	SNP	T	T	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:225599096T>A	ENST00000338179.2	-	9	1256	c.1131A>T	c.(1129-1131)cgA>cgT	p.R377R	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Silent_p.R377R	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	377					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.R377R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AAGTACCAATTCGAGGGTTTA	0.393																																																1	Substitution - coding silent(1)	kidney(1)											115	122	119					1																	225599096		2203	4300	6503	SO:0001819	synonymous_variant	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1131A>T	1.37:g.225599096T>A			B2R5P3|Q14740|Q53GU7|Q59FE6	Silent	SNP	ENST00000338179.2	37	CCDS1545.1																																																																																				0.393	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		A	225599096	T	A	225599096	2	1	409	1	0	0	0	0	0	0	0	1	8654	1770	62	5		5	LBR	1	225599096	Silent	SNP	T	TCGA-BP-5000-01A-01D-1462-08	23628251	225599096	23651525	8	22507											
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152548582	152548582	+	Silent	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr2:152548582T>C	ENST00000172853.10	-	22	2244	c.2097A>G	c.(2095-2097)caA>caG	p.Q699Q	NEB_ENST00000603639.1_Silent_p.Q699Q|NEB_ENST00000427231.2_Silent_p.Q699Q|NEB_ENST00000604864.1_Silent_p.Q699Q|NEB_ENST00000397345.3_Silent_p.Q699Q|NEB_ENST00000409198.1_Silent_p.Q699Q			P20929	NEBU_HUMAN	nebulin	699					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q699Q(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATCACTGTTTTGAGCTGCAA	0.373																																																2	Substitution - coding silent(2)	kidney(2)											176	165	168					2																	152548582		1978	4166	6144	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2097A>G	2.37:g.152548582T>C			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.373	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152548582	T	C	152548582	2	2	409	1	0	0	0	0	0	0	0	1	10304	1838	64	3		3	NEB	2	152548582	Silent	SNP	T	TCGA-BP-5000-01A-01D-1462-08		152548582	90650791	9	22508											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179643760	179643760	+	Missense_Mutation	SNP	C	C	T	rs539470256		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr2:179643760C>T	ENST00000591111.1	-	24	4273	c.4049G>A	c.(4048-4050)cGt>cAt	p.R1350H	TTN_ENST00000342992.6_Missense_Mutation_p.R1350H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R1350H|TTN_ENST00000589042.1_Missense_Mutation_p.R1350H|TTN_ENST00000460472.2_Missense_Mutation_p.R1304H|TTN_ENST00000359218.5_Missense_Mutation_p.R1304H|TTN_ENST00000342175.6_Missense_Mutation_p.R1304H			Q8WZ42	TITIN_HUMAN	titin	33546	Ig-like 5.		R -> H (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.R1304H(4)|p.R1350H(3)		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)			AACAGGTATACGCAGACTAGC	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		20801	0.001		0.0	False		,,,				2504	0.0															7	Substitution - Missense(7)	kidney(6)|stomach(1)											141	123	129					2																	179643760		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4049G>A	2.37:g.179643760C>T	ENSP00000465570:p.Arg1350His		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.82	3.483763	0.63962	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71091	0.3299	N	0.12569	0.235	0.46981	D	0.999277	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.76852	-0.2806	9	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1304;1304;1304;1350;1350	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1350;1304;1304;1304;1304;1350	ENSP00000343764:R1350H;ENSP00000434586:R1304H;ENSP00000340554:R1304H;ENSP00000352154:R1304H;ENSP00000354117:R1350H	ENSP00000340554:R1304H	R	-	2	0	TTN	179352005	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.936000	0.63506	2.711000	0.92665	0.655000	0.94253	CGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179643760	C	T	179643760	3	4	409	1	0	0	0	0	1	0	0	0	16740	536	19	1	107295	1	TTN	2	179643760	Missense_Mutation	SNP	C	TCGA-BP-5000-01A-01D-1462-08	27095178	179643760	63555613	10	22509											
UGT1A6	54578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234602164	234602164	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr2:234602164A>G	ENST00000305139.6	+	1	653	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|AC114812.8_ENST00000439336.1_RNA	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	172					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R172G(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GTACCTCTTCAGGGGTTTTCC	0.498																																																1	Substitution - Missense(1)	kidney(1)											145	136	139					2																	234602164		2203	4300	6503	SO:0001583	missense	54578			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.514A>G	2.37:g.234602164A>G	ENSP00000303174:p.Arg172Gly		A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357967	0.61403	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.64260	-0.09;-0.09	5.31	0.12	0.14691	.	.	.	.	.	T	0.76814	0.4040	M	0.89095	3.005	0.80722	D	1	P;B	0.46859	0.885;0.046	P;B	0.53360	0.724;0.139	D	0.83892	0.0285	9	0.72032	D	0.01	.	17.0147	0.86415	0.356:0.644:0.0:0.0	.	172;172	B8K289;P19224	.;UD16_HUMAN	G	172	ENSP00000389637:R172G;ENSP00000303174:R172G	ENSP00000303174:R172G	R	+	1	2	UGT1A6	234266903	0.000000	0.05858	1.000000	0.80357	0.779000	0.44077	-0.100000	0.10990	0.117000	0.18138	0.533000	0.62120	AGG		0.498	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		G	234602164	A	G	234602164	3	3	409	1	0	0	0	0	1	0	0	0	16954	179	7	3	516	3	UGT1A6	2	234602164	Missense_Mutation	SNP	A	TCGA-BP-5000-01A-01D-1462-08	54958404	234602164	8597209	11	22510											
RAMP1	10267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238820196	238820196	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr2:238820196C>T	ENST00000254661.4	+	3	350	c.218C>T	c.(217-219)aCc>aTc	p.T73I	RAMP1_ENST00000409726.1_Missense_Mutation_p.T51I|RAMP1_ENST00000404910.2_Missense_Mutation_p.T51I|RAMP1_ENST00000403885.1_Missense_Mutation_p.T51I	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	73					angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|intracellular protein transport (GO:0006886)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein glycosylation (GO:0060050)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcitonin receptor activity (GO:0004948)|calcitonin receptor binding (GO:0031716)|coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.T73I(1)		kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	GCCGACTGCACCTGGCACATG	0.657																																					NSCLC(177;211 2889 43936 50767)											1	Substitution - Missense(1)	kidney(1)											44	39	41					2																	238820196		2203	4300	6503	SO:0001583	missense	10267			AJ001014	CCDS2522.1	2q36-q37.1	2008-02-05	2006-11-21		ENSG00000132329	ENSG00000132329		"Receptor (G protein-coupled) activity modifying proteins"	9843	protein-coding gene	gene with protein product		605153	"receptor activity modifying protein 1", "receptor (calcitonin) activity modifying protein 1"				Standard	NM_005855		Approved		uc002vxj.3	O60894	OTTHUMG00000133337	ENST00000254661.4:c.218C>T	2.37:g.238820196C>T	ENSP00000254661:p.Thr73Ile		Q6FGS5	Missense_Mutation	SNP	ENST00000254661.4	37	CCDS2522.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177486	0.57692	.	.	ENSG00000132329	ENST00000404910;ENST00000254661;ENST00000409726;ENST00000403885	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.65	4.65	0.58169	.	0.046335	0.85682	D	0.000000	T	0.69753	0.3146	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75001	-0.3471	10	0.72032	D	0.01	-51.9269	15.4548	0.75305	0.0:1.0:0.0:0.0	.	73	O60894	RAMP1_HUMAN	I	51;73;51;51	ENSP00000384688:T51I;ENSP00000254661:T73I;ENSP00000386720:T51I;ENSP00000386046:T51I	ENSP00000254661:T73I	T	+	2	0	RAMP1	238484935	1.000000	0.71417	0.879000	0.34478	0.026000	0.11368	5.673000	0.68109	2.311000	0.77944	0.650000	0.86243	ACC		0.657	RAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257166.2	NM_005855		T	238820196	C	T	238820196	3	4	409	1	0	0	0	0	1	0	0	0	13027	507	18	2	228	2	RAMP1	2	238820196	Missense_Mutation	SNP	C	TCGA-BP-5000-01A-01D-1462-08	4218032	238820196	4379177	12	22511											
PRSS50	29122	broad.mit.edu	37	3	46753884	46753884	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr3:46753884C>A	ENST00000460241.1	-	11	2680	c.1010G>T	c.(1009-1011)aGc>aTc	p.S337I	PRSS50_ENST00000315170.7_Missense_Mutation_p.S337I			Q9UI38	TSP50_HUMAN	protease, serine, 50	337	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.S337I(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGGGGCCTCGCTCTTCTGGCA	0.642																																					Pancreas(41;915 1239 11561 17469)											1	Substitution - Missense(1)	kidney(1)											66	59	61					3																	46753884		2203	4300	6503	SO:0001583	missense	29122			AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.1010G>T	3.37:g.46753884C>A	ENSP00000418875:p.Ser337Ile			Missense_Mutation	SNP	ENST00000460241.1	37	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	9.688	1.151214	0.21371	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	D;D	0.88741	-2.42;-2.42	4.08	0.343	0.16001	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.688458	0.13344	N	0.394956	D	0.85725	0.5763	L	0.31371	0.925	0.09310	N	1	D	0.56521	0.976	P	0.54706	0.759	T	0.75755	-0.3206	10	0.52906	T	0.07	.	6.2946	0.21079	0.0:0.5692:0.0:0.4308	.	337	Q9UI38	TSP50_HUMAN	I	251;337;337	ENSP00000326598:S337I;ENSP00000418875:S337I	ENSP00000326598:S337I	S	-	2	0	PRSS50	46728888	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-2.310000	0.01129	0.037000	0.15575	-0.140000	0.14226	AGC		0.642	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			A	46753884	C	A	46753884	3	1	409	1	0	0	0	0	1	0	0	0	12636	797	28	4	151	4	PRSS50	3	46753884	Missense_Mutation	SNP	C	TCGA-BP-5000-01A-01D-1462-08		46753884	151268546	13	22512											
RNF123	63891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49734822	49734822	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr3:49734822T>C	ENST00000327697.6	+	5	418	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	92	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S92P(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCTTGGCCCATCCACTGTGGT	0.607																																																1	Substitution - Missense(1)	kidney(1)											54	52	53					3																	49734822		2203	4300	6503	SO:0001583	missense	63891			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.274T>C	3.37:g.49734822T>C	ENSP00000328287:p.Ser92Pro		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014630	0.75161	.	.	ENSG00000164068	ENST00000327697;ENST00000389066	T	0.61040	0.14	6.17	3.72	0.42706	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.197614	0.44097	D	0.000492	T	0.35856	0.0946	N	0.14661	0.345	0.80722	D	1	P	0.47409	0.895	B	0.37943	0.261	T	0.05666	-1.0871	10	0.22706	T	0.39	-26.611	12.6372	0.56689	0.0:0.0:0.2612:0.7387	.	92	Q5XPI4	RN123_HUMAN	P	92	ENSP00000328287:S92P	ENSP00000328287:S92P	S	+	1	0	RNF123	49709826	0.991000	0.36638	0.934000	0.37439	0.997000	0.91878	2.353000	0.44089	0.522000	0.28464	0.533000	0.62120	TCC		0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		C	49734822	T	C	49734822	3	2	409	1	0	0	0	0	1	0	0	0	13439	1435	50	3	288	3	RNF123	3	49734822	Missense_Mutation	SNP	T	TCGA-BP-5000-01A-01D-1462-08	2980938	49734822	148287608	14	22513											
HTT	3064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	3208255	3208255	+	Silent	SNP	G	G	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr4:3208255G>T	ENST00000355072.5	+	43	5896	c.5751G>T	c.(5749-5751)acG>acT	p.T1917T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1917					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.T1917T(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCACTTAACGTGGCTCATTG	0.453																																																1	Substitution - coding silent(1)	kidney(1)											102	98	99					4																	3208255		1965	4160	6125	SO:0001819	synonymous_variant	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5751G>T	4.37:g.3208255G>T			Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.453	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		T	3208255	G	T	3208255	2	4	409	1	0	0	0	0	0	0	0	1	7459	1132	40	4		4	HTT	4	3208255	Silent	SNP	G	TCGA-BP-5000-01A-01D-1462-08		3208255	187946021	15	22514											
AASDH	132949	broad.mit.edu;hgsc.bcm.edu	37	4	57204599	57204599	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr4:57204599C>T	ENST00000205214.6	-	15	3446	c.3266G>A	c.(3265-3267)tGt>tAt	p.C1089Y	AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.C989Y|AASDH_ENST00000434343.2_Missense_Mutation_p.C604Y	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1089					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.C1089Y(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TAAATCCAGACAATAAACATA	0.318																																																1	Substitution - Missense(1)	kidney(1)											61	66	64					4																	57204599		2203	4299	6502	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.3266G>A	4.37:g.57204599C>T	ENSP00000205214:p.Cys1089Tyr		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677789	0.68042	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343	T;T;T	0.57107	0.42;0.42;0.42	6.04	5.19	0.71726	Quinonprotein alcohol dehydrogenase-like (2);	0.133902	0.64402	D	0.000001	T	0.75968	0.3922	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.81037	-0.1114	10	0.72032	D	0.01	-16.483	17.3805	0.87403	0.0:0.8751:0.1249:0.0	.	1089	Q4L235	ACSF4_HUMAN	Y	1089;989;604	ENSP00000205214:C1089Y;ENSP00000423760:C989Y;ENSP00000392158:C604Y	ENSP00000205214:C1089Y	C	-	2	0	AASDH	56899356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.624000	0.61254	1.551000	0.49450	0.650000	0.86243	TGT		0.318	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		T	57204599	C	T	57204599	3	4	409	1	0	0	0	0	1	0	0	0	22	478	17	2	34	2	AASDH	4	57204599	Missense_Mutation	SNP	C	TCGA-BP-5000-01A-01D-1462-08	53996344	57204599	133949677	16	22515											
IPO11	51194	broad.mit.edu;ucsc.edu	37	5	61779841	61779841	+	Silent	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr5:61779841C>T	ENST00000325324.6	+	11	1195	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Silent_p.S382S	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	342					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.S342S(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TTCTAGATAGCAGCCCTGAAA	0.318																																																1	Substitution - coding silent(1)	kidney(1)											61	64	63					5																	61779841		2203	4296	6499	SO:0001819	synonymous_variant	51194			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1026C>T	5.37:g.61779841C>T			A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Silent	SNP	ENST00000325324.6	37	CCDS34167.1																																																																																				0.318	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		T	61779841	C	T	61779841	2	4	409	1	0	0	0	0	0	0	0	1	7795	709	25	2		2	IPO11	5	61779841	Silent	SNP	C	TCGA-BP-5000-01A-01D-1462-08		61779841	119135419	17	22516											
PCDHB7	56129	broad.mit.edu;hgsc.bcm.edu	37	5	140553992	140553992	+	Missense_Mutation	SNP	G	G	T	rs146429251	byFrequency	TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr5:140553992G>T	ENST00000231137.3	+	1	1750	c.1576G>T	c.(1576-1578)Gcg>Tcg	p.A526S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	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)	p.A526S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCTGCAGGCGTTCGAGTT	0.706																																																1	Substitution - Missense(1)	kidney(1)											64	70	68					5																	140553992		2203	4300	6503	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1576G>T	5.37:g.140553992G>T	ENSP00000231137:p.Ala526Ser		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	g	10.28	1.306552	0.23736	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.03094	4.05	4.34	3.44	0.39384	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.04679	0.0127	N	0.11427	0.14	0.09310	N	1	P	0.49559	0.925	P	0.56648	0.803	T	0.50634	-0.8805	9	0.22706	T	0.39	.	9.7108	0.40245	0.0868:0.1448:0.7684:0.0	.	526	Q9Y5E2	PCDB7_HUMAN	S	526;309	ENSP00000231137:A526S	ENSP00000231137:A526S	A	+	1	0	PCDHB7	140534176	0.005000	0.15991	0.402000	0.26371	0.628000	0.37860	1.344000	0.33941	2.112000	0.64535	0.552000	0.68991	GCG		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		T	140553992	G	T	140553992	3	4	409	1	0	0	0	0	1	0	0	0	11549	1203	42	4	1578	4	PCDHB7	5	140553992	Missense_Mutation	SNP	G	TCGA-BP-5000-01A-01D-1462-08	78774151	140553992	40361268	18	22517											
PHF1	5252	hgsc.bcm.edu;ucsc.edu	37	6	33382506	33382507	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr6:33382506_33382507insT	ENST00000374516.3	+	11	1220_1221	c.949_950insT	c.(949-951)attfs	p.I317fs	PHF1_ENST00000374512.3_Frame_Shift_Ins_p.I317fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	317					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCCAGTTTCATTTCAGGGAGA	0.49											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	5252			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.952dupT	6.37:g.33382509_33382509dupT	ENSP00000363640:p.Ile317fs	839	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Ins	INS	ENST00000374516.3	37	CCDS4777.1																																																																																				0.49	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			T	33382507	-	T	33382506	7	5	409	1	0	1	1	0	0	0	0	0	11822	217	8	0	987	0	PHF1	6	33382506	Frame_Shift_Ins	INS	-	TCGA-BP-5000-01A-01D-1462-08		33382506	137732561	19	22518											
PRIM2	5558	broad.mit.edu;hgsc.bcm.edu	37	6	57498975	57498975	+	3'UTR	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr6:57498975T>C	ENST00000389488.2	+	0	1326				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.D413D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGATTTTGGATTTAGTAAAGG	0.294																																																1	Substitution - coding silent(1)	kidney(1)											76	70	72					6																	57498975		1835	4083	5918	SO:0001624	3_prime_UTR_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1323T>C	6.37:g.57498975T>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000389488.2	37																																																																																					0.294	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		C	57498975	T	C	57498975	1	2	409	0	1	0	0	0	0	0	0	0	12496	1490	52	3		3	PRIM2	6	57498975	3'UTR	SNP	T	TCGA-BP-5000-01A-01D-1462-08	24116469	57498975	113616092	20	22519											
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21789334	21789334	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr7:21789334G>C	ENST00000409508.3	+	53	8743	c.8712G>C	c.(8710-8712)aaG>aaC	p.K2904N	DNAH11_ENST00000328843.6_Missense_Mutation_p.K2911N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2911	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K2911N(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGAGCCAAGAACATGCCCA	0.468									Kartagener syndrome																																							1	Substitution - Missense(1)	kidney(1)											113	111	111					7																	21789334		2067	4220	6287	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8712G>C	7.37:g.21789334G>C	ENSP00000475939:p.Lys2904Asn		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	19.69	3.874721	0.72180	.	.	ENSG00000105877	ENST00000328843	T	0.56103	0.48	5.43	3.6	0.41247	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.090124	0.85682	D	0.000000	T	0.69459	0.3113	.	.	.	0.51233	D	0.999916	D	0.69078	0.997	D	0.66602	0.945	T	0.70868	-0.4755	9	0.52906	T	0.07	.	12.5797	0.56383	0.1241:0.0:0.8759:0.0	.	2911	Q96DT5	DYH11_HUMAN	N	2911	ENSP00000330671:K2911N	ENSP00000330671:K2911N	K	+	3	2	DNAH11	21755859	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.591000	0.67536	0.640000	0.30582	0.655000	0.94253	AAG		0.468	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		C	21789334	G	C	21789334	3	2	409	1	0	0	0	0	1	0	0	0	4601	933	33	4	8944	4	DNAH11	7	21789334	Missense_Mutation	SNP	G	TCGA-BP-5000-01A-01D-1462-08		21789334	137349329	21	22520											
C7orf29	113763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150027696	150027696	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr7:150027696G>A	ENST00000343855.4	+	1	759	c.203G>A	c.(202-204)cGc>cAc	p.R68H	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	68								p.R68H(1)									CTCTTCTACCGCGAGGAGTTT	0.622																																																1	Substitution - Missense(1)	kidney(1)											93	93	93					7																	150027696		2203	4300	6503	SO:0001583	missense	113763			BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"chromosome 7 open reading frame 29"	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.203G>A	7.37:g.150027696G>A	ENSP00000343242:p.Arg68His			Missense_Mutation	SNP	ENST00000343855.4	37	CCDS5900.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861353	0.32884	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.75	-2.48	0.06423	.	4.453540	0.01642	U	0.024125	T	0.27731	0.0682	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.14578	0.011	T	0.24584	-1.0156	9	0.38643	T	0.18	.	9.4051	0.38457	0.5655:0.0:0.4345:0.0	.	68	Q96FA7	CG029_HUMAN	H	68	.	ENSP00000343242:R68H	R	+	2	0	C7orf29	149658629	0.047000	0.20315	0.014000	0.15608	0.611000	0.37282	0.178000	0.16820	-0.483000	0.06772	-0.484000	0.04775	CGC		0.622	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350702.1	NM_138434		A	150027696	G	A	150027696	3	1	409	1	0	0	0	0	1	0	0	0	2387	1087	38	1	205	1	C7orf29	7	150027696	Missense_Mutation	SNP	G	TCGA-BP-5000-01A-01D-1462-08	128238362	150027696	9110967	22	22521											
C8orf34	116328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	69351861	69351861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr8:69351861G>A	ENST00000539993.1	+	2	746	c.197G>A	c.(196-198)tGg>tAg	p.W66*	C8orf34_ENST00000348340.2_Nonsense_Mutation_p.W66*|C8orf34_ENST00000337103.4_Nonsense_Mutation_p.W41*|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.W152*|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000523686.1_Nonsense_Mutation_p.W66*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	66								p.W66*(1)|p.W41*(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GCAGCTCTATGGGCAGAAAGT	0.368																																																2	Substitution - Nonsense(2)	kidney(2)											72	70	71					8																	69351861		2203	4300	6503	SO:0001587	stop_gained	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.197G>A	8.37:g.69351861G>A	ENSP00000438159:p.Trp66*		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Nonsense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	G	43	10.369597	0.99392	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000523686;ENST00000348340;ENST00000337103	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.3956	20.2189	0.98312	0.0:0.0:1.0:0.0	.	.	.	.	X	152;66;66;66;41	.	.	W	+	2	0	C8orf34	69514415	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.402000	0.97298	2.779000	0.95612	0.650000	0.86243	TGG		0.368	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		A	69351861	G	A	69351861	4	1	409	1	0	0	0	0	0	1	0	0	2424	1357	47	2	124	2	C8orf34	8	69351861	Nonsense_Mutation	SNP	G	TCGA-BP-5000-01A-01D-1462-08		69351861	77012161	23	22522											
TATDN1	83940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125500921	125500921	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr8:125500921T>C	ENST00000276692.6	-	12	845	c.808A>G	c.(808-810)Atg>Gtg	p.M270V	TATDN1_ENST00000519548.1_Missense_Mutation_p.M223V|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	270					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.M270V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTGCTGACATTATCTCCAAT	0.284																																																1	Substitution - Missense(1)	kidney(1)											53	56	55					8																	125500921		2200	4280	6480	SO:0001583	missense	83940			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.808A>G	8.37:g.125500921T>C	ENSP00000276692:p.Met270Val		B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.909836	0.52439	.	.	ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810	.	.	.	5.5	4.33	0.51752	.	0.075735	0.85682	D	0.000000	T	0.24967	0.0606	N	0.03608	-0.345	0.80722	D	1	B;B	0.14438	0.004;0.01	B;B	0.12156	0.007;0.004	T	0.17745	-1.0359	9	0.02654	T	1	-23.5456	12.2447	0.54563	0.0:0.0:0.2685:0.7315	.	306;270	E5RG17;Q6P1N9	.;TATD1_HUMAN	V	270;223;306	.	ENSP00000276692:M270V	M	-	1	0	TATDN1	125570102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.523000	0.53488	1.011000	0.39340	0.533000	0.62120	ATG		0.284	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		C	125500921	T	C	125500921	3	2	409	1	0	0	0	0	1	0	0	0	15596	1493	52	3	89	3	TATDN1	8	125500921	Missense_Mutation	SNP	T	TCGA-BP-5000-01A-01D-1462-08	56149060	125500921	20863101	24	22523											
ANKRD20A4	728747	hgsc.bcm.edu	37	9	69393857	69393860	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	TACT	TACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr9:69393857_69393860delTACT	ENST00000357336.3	+	6	1054_1057	c.773_776delTACT	c.(772-777)atacttfs	p.IL258fs	RNU6-1193P_ENST00000459461.1_RNA	NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	258										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AAAAAGAAGATACTTAAAAAGGAG	0.25																																																0																																										SO:0001589	frameshift_variant	728747				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"Ankyrin repeat domain containing"	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.773_776delTACT	9.37:g.69393857_69393860delTACT	ENSP00000349891:p.Ile258fs			Frame_Shift_Del	DEL	ENST00000357336.3	37	CCDS43828.1																																																																																				0.25	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3	NM_001098805		-	69393860	TACT	-	69393857	7	5	409	1	0	1	0	1	0	0	0	0	650	1406	49	0	795	0	ANKRD20A4	9	69393857	Frame_Shift_Del	DEL	TACT	TCGA-BP-5000-01A-01D-1462-08		69393857	71819574	25	22524											
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12009405	12009405	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr10:12009405G>T	ENST00000356352.2	-	9	2475	c.2002C>A	c.(2002-2004)Cgt>Agt	p.R668S	UPF2_ENST00000397053.2_Missense_Mutation_p.R668S|UPF2_ENST00000357604.5_Missense_Mutation_p.R668S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	668	MIF4G 2.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R668S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CCTATAAAACGAACAGTTTTA	0.289																																																1	Substitution - Missense(1)	kidney(1)											114	109	110					10																	12009405		2200	4298	6498	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2002C>A	10.37:g.12009405G>T	ENSP00000348708:p.Arg668Ser		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570774	0.65765	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.30714	1.52;1.52;1.52	4.75	4.75	0.60458	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	M	0.89414	3.03	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.65768	-0.6088	10	0.56958	D	0.05	.	12.0709	0.53616	0.0:0.0:0.714:0.286	.	668	Q9HAU5	RENT2_HUMAN	S	668	ENSP00000348708:R668S;ENSP00000350221:R668S;ENSP00000380244:R668S	ENSP00000348708:R668S	R	-	1	0	UPF2	12049411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.458000	0.53014	2.363000	0.80096	0.585000	0.79938	CGT		0.289	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			T	12009405	G	T	12009405	3	4	409	1	0	0	0	0	1	0	0	0	17009	1058	37	4	1868	4	UPF2	10	12009405	Missense_Mutation	SNP	G	TCGA-BP-5000-01A-01D-1462-08		12009405	123525342	26	22525											
KIAA0913	23053	broad.mit.edu	37	10	75551975	75551975	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr10:75551975C>A	ENST00000605216.1	+	10	1895	c.1678C>A	c.(1678-1680)Cag>Aag	p.Q560K	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.Q560K|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.Q560K|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.Q560K|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.Q560K	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	560	Gly-rich.						zinc ion binding (GO:0008270)	p.Q560K(2)									CCCCTCATCACAGCGGGGTCC	0.662																																																2	Substitution - Missense(2)	kidney(2)											16	18	17					10																	75551975		1823	3975	5798	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.1678C>A	10.37:g.75551975C>A	ENSP00000474748:p.Gln560Lys		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.2|21.2|21.2	4.105986|4.105986|4.105986	0.77096|0.77096|0.77096	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000431225|ENST00000398706|ENST00000433366	.|T|.	.|0.44881|.	.|0.91|.	5.55|5.55|5.55	5.55|5.55|5.55	0.83447|0.83447|0.83447	.|.|.	.|0.945278|.	.|0.08616|.	.|U|.	.|0.919167|.	T|T|T	0.56455|0.56455|0.56455	0.1986|0.1986|0.1986	N|N|N	0.22421|0.22421|0.22421	0.69|0.69|0.69	0.44409|0.44409|0.44409	D|D|D	0.997325|0.997325|0.997325	.|B;B;B|.	.|0.31290|.	.|0.318;0.318;0.318|.	.|B;B;B|.	.|0.35278|.	.|0.142;0.199;0.142|.	T|T|T	0.48186|0.48186|0.48186	-0.9057|-0.9057|-0.9057	5|10|5	.|0.17369|.	.|T|.	.|0.5|.	-6.9219|-6.9219|-6.9219	19.6982|19.6982|19.6982	0.96039|0.96039|0.96039	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|560;560;560|.	.|A7E2V4;A7E2V4-5;A7E2V4-4|.	.|K0913_HUMAN;.;.|.	Q|K|K	56|560|282	.|ENSP00000381693:Q560K|.	.|ENSP00000381693:Q560K|.	H|Q|T	+|+|+	3|1|2	2|0|0	KIAA0913|KIAA0913|KIAA0913	75221981|75221981|75221981	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.972000|0.972000|0.972000	0.41901|0.41901|0.41901	0.897000|0.897000|0.897000	0.52465|0.52465|0.52465	5.770000|5.770000|5.770000	0.68873|0.68873|0.68873	2.894000|2.894000|2.894000	0.99253|0.99253|0.99253	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CAC|CAG|ACA		0.662	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		A	75551975	C	A	75551975	3	1	409	1	0	0	0	0	1	0	0	0	8202	479	17	4	1716	4	KIAA0913	10	75551975	Missense_Mutation	SNP	C	TCGA-BP-5000-01A-01D-1462-08	63542570	75551975	59982772	27	22526											
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu	37	11	62288165	62288165	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr11:62288165T>G	ENST00000378024.4	-	5	13998	c.13724A>C	c.(13723-13725)aAa>aCa	p.K4575T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4575					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K4575T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCCTTCAGTTTCCCTTCTGG	0.468																																																1	Substitution - Missense(1)	kidney(1)											90	90	90					11																	62288165		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13724A>C	11.37:g.62288165T>G	ENSP00000367263:p.Lys4575Thr		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158320	0.57368	.	.	ENSG00000124942	ENST00000378024	T	0.01665	4.7	5.22	5.22	0.72569	.	0.126176	0.53938	D	0.000056	T	0.17238	0.0414	H	0.97940	4.11	0.44946	D	0.99796	D	0.69078	0.997	D	0.79784	0.993	T	0.12268	-1.0554	10	0.33940	T	0.23	.	11.6876	0.51497	0.0:0.0:0.1477:0.8523	.	4575	Q09666	AHNK_HUMAN	T	4575	ENSP00000367263:K4575T	ENSP00000367263:K4575T	K	-	2	0	AHNAK	62044741	0.557000	0.26546	0.995000	0.50966	0.950000	0.60333	1.199000	0.32235	1.972000	0.57404	0.519000	0.50382	AAA		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		G	62288165	T	G	62288165	3	3	409	1	0	0	0	0	1	0	0	0	414	1841	64	5	4068	5	AHNAK	11	62288165	Missense_Mutation	SNP	T	TCGA-BP-5000-01A-01D-1462-08		62288165	72718351	28	22527											
SLC22A12	116085	broad.mit.edu;hgsc.bcm.edu	37	11	64360346	64360346	+	Silent	SNP	C	C	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr11:64360346C>A	ENST00000377574.1	+	2	1245	c.498C>A	c.(496-498)gcC>gcA	p.A166A	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Silent_p.A166A|SLC22A12_ENST00000377572.1_Silent_p.A166A|SLC22A12_ENST00000377567.2_Silent_p.A166A	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	166					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.A166A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GCGGCCCTGCCTCAGACAGGT	0.622																																																1	Substitution - coding silent(1)	kidney(1)											89	77	81					11																	64360346		2201	4297	6498	SO:0001819	synonymous_variant	116085			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.498C>A	11.37:g.64360346C>A			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	CCDS8075.1																																																																																				0.622	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		A	64360346	C	A	64360346	2	1	409	1	0	0	0	0	0	0	0	1	14449	668	24	4		4	SLC22A12	11	64360346	Silent	SNP	C	TCGA-BP-5000-01A-01D-1462-08	2072181	64360346	70646170	29	22528											
C2CD3	26005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73825591	73825591	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr11:73825591T>C	ENST00000334126.7	-	10	1794	c.1568A>G	c.(1567-1569)cAa>cGa	p.Q523R	C2CD3_ENST00000313663.7_Missense_Mutation_p.Q523R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	523					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.Q523R(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGTCATCGTTTGGGCATCTTC	0.453																																																2	Substitution - Missense(2)	kidney(2)											169	141	150					11																	73825591		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1568A>G	11.37:g.73825591T>C	ENSP00000334379:p.Gln523Arg		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	T	9.576	1.122433	0.20877	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.09911	2.93;2.94	6.07	3.58	0.41010	.	0.448897	0.24691	N	0.036381	T	0.09024	0.0223	L	0.47716	1.5	0.09310	N	0.999992	P;P	0.38767	0.514;0.646	B;B	0.35353	0.068;0.201	T	0.24764	-1.0151	10	0.23302	T	0.38	-0.164	8.472	0.32991	0.0:0.0673:0.1748:0.7579	.	523;523	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	R	523	ENSP00000334379:Q523R;ENSP00000323339:Q523R	ENSP00000323339:Q523R	Q	-	2	0	C2CD3	73503239	0.899000	0.30636	0.770000	0.31555	0.251000	0.25915	1.227000	0.32576	0.407000	0.25591	0.528000	0.53228	CAA		0.453	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		C	73825591	T	C	73825591	3	2	409	1	0	0	0	0	1	0	0	0	2156	1812	63	3	4411	3	C2CD3	11	73825591	Missense_Mutation	SNP	T	TCGA-BP-5000-01A-01D-1462-08	9465245	73825591	61180925	30	22529											
TMED2	10959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124069276	124069276	+	Silent	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr12:124069276G>A	ENST00000262225.3	+	1	199	c.93G>A	c.(91-93)gaG>gaA	p.E31E	RP11-486O12.2_ENST00000498967.2_lincRNA|TMED2_ENST00000509052.2_5'Flank	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	31	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)		p.E31E(1)		kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		ATGCTGAAGAGTGCTTCTTTG	0.627																																																1	Substitution - coding silent(1)	kidney(1)											70	64	66					12																	124069276		2203	4300	6503	SO:0001819	synonymous_variant	10959			X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.93G>A	12.37:g.124069276G>A				Silent	SNP	ENST00000262225.3	37	CCDS9250.1																																																																																				0.627	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400606.1	NM_006815		A	124069276	G	A	124069276	2	1	409	1	0	0	0	0	0	0	0	1	16009	1020	36	2		2	TMED2	12	124069276	Silent	SNP	G	TCGA-BP-5000-01A-01D-1462-08		124069276	9782619	31	22530											
NDFIP2	54602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	80094986	80094986	+	Silent	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr13:80094986G>A	ENST00000218652.7	+	2	415	c.363G>A	c.(361-363)gaG>gaA	p.E121E	NDFIP2_ENST00000494647.1_3'UTR	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	121					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.E121E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		CGGCTATAGAGCAGCCACCTA	0.383																																																1	Substitution - coding silent(1)	kidney(1)											84	78	80					13																	80094986		2203	4300	6503	SO:0001819	synonymous_variant	54602			AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.363G>A	13.37:g.80094986G>A			Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Silent	SNP	ENST00000218652.7	37	CCDS31998.1																																																																																				0.383	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			A	80094986	G	A	80094986	2	1	409	1	0	0	0	0	0	0	0	1	10248	962	34	2		2	NDFIP2	13	80094986	Silent	SNP	G	TCGA-BP-5000-01A-01D-1462-08		80094986	35074892	32	22531											
CLYBL	171425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	100511253	100511253	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr13:100511253C>A	ENST00000376360.1	+	3	415	c.388C>A	c.(388-390)Cct>Act	p.P130T	CLYBL_ENST00000376354.1_Missense_Mutation_p.P130T|CLYBL_ENST00000339105.4_Missense_Mutation_p.P130T|CLYBL_ENST00000376355.3_Missense_Mutation_p.P130T|CLYBL_ENST00000444838.2_Missense_Mutation_p.P130T			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	130						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.P130T(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGGGTCCTTCCTTCCAGCCT	0.498																																																1	Substitution - Missense(1)	kidney(1)											72	67	69					13																	100511253		2203	4300	6503	SO:0001583	missense	171425			AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.388C>A	13.37:g.100511253C>A	ENSP00000365538:p.Pro130Thr		Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827894	0.90955	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105;ENST00000416504;ENST00000443887	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.91	5.91	0.95273	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69975	-0.4999	10	0.72032	D	0.01	9.0E-4	20.2985	0.98592	0.0:1.0:0.0:0.0	.	130;130;130	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	T	130;130;130;130;130;47;47	ENSP00000365533:P130T;ENSP00000365538:P130T;ENSP00000404768:P130T;ENSP00000365532:P130T;ENSP00000342991:P130T;ENSP00000403408:P47T;ENSP00000401586:P47T	ENSP00000342991:P130T	P	+	1	0	CLYBL	99309254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	CCT		0.498	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			A	100511253	C	A	100511253	3	1	409	1	0	0	0	0	1	0	0	0	3575	855	30	4	398	4	CLYBL	13	100511253	Missense_Mutation	SNP	C	TCGA-BP-5000-01A-01D-1462-08	20416267	100511253	14658625	33	22532											
ADCY4	196883	broad.mit.edu;hgsc.bcm.edu	37	14	24801009	24801009	+	Silent	SNP	G	G	C	rs146843899		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr14:24801009G>C	ENST00000310677.4	-	5	767	c.654C>G	c.(652-654)acC>acG	p.T218T	ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Silent_p.T218T|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000554068.2_Silent_p.T218T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	218					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.T218T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCTTCTTCTCGGTGTCCAGCC	0.637																																																1	Substitution - coding silent(1)	kidney(1)											23	26	25					14																	24801009		2203	4300	6503	SO:0001819	synonymous_variant	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.654C>G	14.37:g.24801009G>C			B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	CCDS9627.1																																																																																				0.637	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			C	24801009	G	C	24801009	2	2	409	1	0	0	0	0	0	0	0	1	296	1103	39	4		4	ADCY4	14	24801009	Silent	SNP	G	TCGA-BP-5000-01A-01D-1462-08		24801009	82548531	34	22533											
RPL4	6124	hgsc.bcm.edu	37	15	66791809	66791809	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr15:66791809G>A	ENST00000307961.6	-	10	1312	c.1220C>T	c.(1219-1221)cCa>cTa	p.P407L	SNAPC5_ENST00000316634.5_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.P313L|SNAPC5_ENST00000395589.2_5'Flank|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000563480.2_5'Flank|SNAPC5_ENST00000566658.1_5'Flank|SNAPC5_ENST00000307979.7_5'Flank	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	407	Lys-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.P407L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TTCAGGGGCTGGTTTCTTGGT	0.438																																																1	Substitution - Missense(1)	kidney(1)											51	52	51					15																	66791809		2200	4299	6499	SO:0001583	missense	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1220C>T	15.37:g.66791809G>A	ENSP00000311430:p.Pro407Leu		A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617613	0.28801	.	.	ENSG00000174444	ENST00000307961	.	.	.	4.89	3.96	0.45880	.	0.363501	0.22605	N	0.057919	T	0.25005	0.0607	N	0.14661	0.345	0.26451	N	0.975612	B	0.09022	0.002	B	0.06405	0.002	T	0.11616	-1.0580	9	0.48119	T	0.1	-0.8887	9.5915	0.39548	0.0974:0.0:0.9026:0.0	.	407	P36578	RL4_HUMAN	L	407	.	ENSP00000311430:P407L	P	-	2	0	RPL4	64578863	0.995000	0.38212	0.237000	0.24090	0.240000	0.25518	2.716000	0.47219	2.244000	0.73946	0.655000	0.94253	CCA		0.438	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		A	66791809	G	A	66791809	3	1	409	1	0	0	0	0	1	0	0	0	13601	1348	47	2	67	2	RPL4	15	66791809	Missense_Mutation	SNP	G	TCGA-BP-5000-01A-01D-1462-08		66791809	35739583	35	22534											
AGBL1	123624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	86940775	86940775	+	Silent	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr15:86940775C>T	ENST00000441037.2	+	17	2510	c.2415C>T	c.(2413-2415)ggC>ggT	p.G805G	AGBL1_ENST00000389298.3_Silent_p.G536G|AGBL1_ENST00000421325.2_Silent_p.G805G	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	805					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.G805G(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCATCAACGGCAAGTATGTCA	0.512																																																1	Substitution - coding silent(1)	kidney(1)											142	138	139					15																	86940775		2073	4190	6263	SO:0001819	synonymous_variant	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2415C>T	15.37:g.86940775C>T			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																				0.512	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		T	86940775	C	T	86940775	2	4	409	1	0	0	0	0	0	0	0	1	375	697	25	2		2	AGBL1	15	86940775	Silent	SNP	C	TCGA-BP-5000-01A-01D-1462-08	20148966	86940775	15590617	36	22535											
FBXL19	54620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30939867	30939867	+	Missense_Mutation	SNP	C	C	T	rs202132610		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr16:30939867C>T	ENST00000380310.2	+	6	925	c.767C>T	c.(766-768)cCg>cTg	p.P256L	FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000562319.1_Missense_Mutation_p.P236L|FBXL19_ENST00000338343.4_Missense_Mutation_p.P236L|FBXL19_ENST00000565690.1_Intron	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	256	Pro-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P256L(1)		breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCAGGCGGCCCGGGCCTGCTG	0.667													c|||	1	0.000199681	0.0	0.0014	5008	,	,		11352	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											19	23	22					16																	30939867		1881	4106	5987	SO:0001583	missense	54620			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.767C>T	16.37:g.30939867C>T	ENSP00000369666:p.Pro256Leu		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	CCDS45465.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	18.32	3.597016	0.66332	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.21734	1.99;2.31	5.03	5.03	0.67393	.	1.074330	0.07294	N	0.872948	T	0.12178	0.0296	N	0.08118	0	0.38427	D	0.946341	P	0.37083	0.581	B	0.30316	0.114	T	0.19943	-1.0290	10	0.28530	T	0.3	-10.173	13.8779	0.63665	0.0:1.0:0.0:0.0	.	256	Q6PCT2	FXL19_HUMAN	L	236;256	ENSP00000339712:P236L;ENSP00000369666:P256L	ENSP00000339712:P236L	P	+	2	0	FBXL19	30847368	0.158000	0.22850	0.957000	0.39632	0.982000	0.71751	0.764000	0.26532	2.344000	0.79699	0.479000	0.44913	CCG		0.667	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		T	30939867	C	T	30939867	3	4	409	1	0	0	0	0	1	0	0	0	5717	652	23	1	789	1	FBXL19	16	30939867	Missense_Mutation	SNP	C	TCGA-BP-5000-01A-01D-1462-08		30939867	59414886	37	22536											
MYST1	84148	broad.mit.edu;hgsc.bcm.edu	37	16	31141808	31141808	+	Silent	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr16:31141808C>T	ENST00000543774.2	+	10	1373	c.1038C>T	c.(1036-1038)gtC>gtT	p.V346V	KAT8_ENST00000448516.2_Silent_p.V346V|RP11-388M20.2_ENST00000563605.1_RNA|KAT8_ENST00000219797.4_Silent_p.V346V			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	346	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.V346V(1)									AGAGCACAGTCGGCTCCCCGG	0.627																																																1	Substitution - coding silent(1)	kidney(1)											29	31	31					16																	31141808		2197	4300	6497	SO:0001819	synonymous_variant	0			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17933	protein-coding gene	gene with protein product		609912	"MYST histone acetyltransferase 1"	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.1038C>T	16.37:g.31141808C>T			A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Silent	SNP	ENST00000543774.2	37	CCDS10706.1																																																																																				0.627	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		T	31141808	C	T	31141808	2	4	409	1	0	0	0	0	0	0	0	1	10104	871	31	1		1	MYST1	16	31141808	Silent	SNP	C	TCGA-BP-5000-01A-01D-1462-08	201941	31141808	59212945	38	22537											
ZNF257	113835	broad.mit.edu;hgsc.bcm.edu	37	19	22271484	22271484	+	Missense_Mutation	SNP	C	C	T	rs368126672		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr19:22271484C>T	ENST00000594947.1	+	4	1076	c.932C>T	c.(931-933)aCt>aTt	p.T311I		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T311I(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAATTCATACTGGAGAGAAA	0.408																																																1	Substitution - Missense(1)	kidney(1)						C	ILE/THR	0,4284		0,0,2142	48	52	51		932	1.1	0.5	19		51	1,8539		0,1,4269	no	missense	ZNF257	NM_033468.2	89	0,1,6411	TT,TC,CC		0.0117,0.0,0.0078	benign	311/564	22271484	1,12823	2142	4270	6412	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.932C>T	19.37:g.22271484C>T	ENSP00000470209:p.Thr311Ile		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287851	0.40494	0.0	1.17E-4	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44435	0.1293	M	0.84948	2.725	0.29091	N	0.88209	P	0.42871	0.792	B	0.40940	0.344	T	0.49679	-0.8914	8	0.87932	D	0	.	4.6449	0.12566	0.0:0.7701:0.0:0.2299	.	311	Q9Y2Q1	ZN257_HUMAN	I	311;283	.	ENSP00000380312:T283I	T	+	2	0	ZNF257	22063324	0.007000	0.16637	0.484000	0.27391	0.183000	0.23260	0.342000	0.19926	0.518000	0.28383	0.313000	0.20887	ACT		0.408	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			T	22271484	C	T	22271484	3	4	409	1	0	0	0	0	1	0	0	0	17805	565	20	2	946	2	ZNF257	19	22271484	Missense_Mutation	SNP	C	TCGA-BP-5000-01A-01D-1462-08		22271484	36857499	39	22538											
ZNF528	84436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52918813	52918813	+	Silent	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr19:52918813T>C	ENST00000360465.3	+	7	1134	c.708T>C	c.(706-708)acT>acC	p.T236T	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T236T(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAATGCATACTGGAGAGAAGC	0.393																																																1	Substitution - coding silent(1)	kidney(1)											89	86	87					19																	52918813		2203	4300	6503	SO:0001819	synonymous_variant	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.708T>C	19.37:g.52918813T>C			B3KPN4|Q86T88|Q96JK0	Silent	SNP	ENST00000360465.3	37	CCDS33091.1																																																																																				0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		C	52918813	T	C	52918813	2	2	409	1	0	0	0	0	0	0	0	1	17974	1567	55	3		3	ZNF528	19	52918813	Silent	SNP	T	TCGA-BP-5000-01A-01D-1462-08	30647329	52918813	6210170	40	22539											
EMILIN3	90187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39990048	39990048	+	Silent	SNP	T	T	G			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr20:39990048T>G	ENST00000332312.3	-	4	2353	c.2161A>C	c.(2161-2163)Aga>Cga	p.R721R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	721						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.R721R(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGGCCCTCTCTGGGCCTCAGT	0.667																																																1	Substitution - coding silent(1)	kidney(1)											35	28	31					20																	39990048		2203	4300	6503	SO:0001819	synonymous_variant	90187			AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.2161A>C	20.37:g.39990048T>G			Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	CCDS13316.1																																																																																				0.667	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		G	39990048	T	G	39990048	2	3	409	1	0	0	0	0	0	0	0	1	5097	1588	55	5		5	EMILIN3	20	39990048	Silent	SNP	T	TCGA-BP-5000-01A-01D-1462-08		39990048	23035472	41	22540											
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu	37	X	53227751	53227751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chrX:53227751G>A	ENST00000375401.3	-	17	2969	c.2437C>T	c.(2437-2439)Cag>Tag	p.Q813*	KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.Q746*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.Q772*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.Q812*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.Q813*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	813					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.Q746*(1)|p.Q813*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTTAGTTGCTGCAGCAGCTCA	0.552			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Nonsense(2)	kidney(2)											41	35	37					X																	53227751		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2437C>T	X.37:g.53227751G>A	ENSP00000364550:p.Gln813*		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	45	11.894446	0.99615	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	4.84	4.84	0.62591	.	0.055368	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-22.3792	14.6993	0.69145	0.0:0.0:1.0:0.0	.	.	.	.	X	746;813;812;813;772	.	ENSP00000364528:Q813X	Q	-	1	0	KDM5C	53244476	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.755000	0.55197	2.140000	0.66376	0.594000	0.82650	CAG		0.552	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53227751	G	A	53227751	4	1	409	1	0	0	0	0	0	1	0	0	8137	1328	46	2	2383	2	KDM5C	23	53227751	Nonsense_Mutation	SNP	G	TCGA-BP-5000-01A-01D-1462-08		53227751	102042809	42	22541											
BCORL1	63035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129146951	129146951	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chrX:129146951G>C	ENST00000218147.7	+	4	400	c.203G>C	c.(202-204)gGc>gCc	p.G68A	BCORL1_ENST00000303743.5_Missense_Mutation_p.G68A|BCORL1_ENST00000540052.1_Missense_Mutation_p.G68A|BCORL1_ENST00000359304.2_Missense_Mutation_p.G68A			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	68					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G68A(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTTGGAAGTGGCAGCAATGCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											70	71	70					X																	129146951		2189	4266	6455	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.203G>C	X.37:g.129146951G>C	ENSP00000218147:p.Gly68Ala		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146753	0.37923	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.56275	0.49;0.85;0.47;0.49	5.28	5.28	0.74379	.	0.000000	0.36034	N	0.002832	T	0.35038	0.0918	N	0.19112	0.55	0.29738	N	0.837365	P	0.43024	0.798	B	0.36244	0.22	T	0.42515	-0.9447	10	0.52906	T	0.07	-16.0229	11.6018	0.51008	0.0837:0.0:0.9163:0.0	.	68	Q5H9F3	BCORL_HUMAN	A	68	ENSP00000218147:G68A;ENSP00000307541:G68A;ENSP00000352253:G68A;ENSP00000437775:G68A	ENSP00000218147:G68A	G	+	2	0	BCORL1	128974632	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	4.834000	0.62774	2.203000	0.70933	0.529000	0.55759	GGC		0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		C	129146951	G	C	129146951	3	2	409	1	0	0	0	0	1	0	0	0	1387	1203	42	4	213	4	BCORL1	23	129146951	Missense_Mutation	SNP	G	TCGA-BP-5000-01A-01D-1462-08	75919200	129146951	26123609	43	22542											
VHL	7428	hgsc.bcm.edu	37	3	10183811	10183811	+	Nonsense_Mutation	SNP	G	G	T	rs5030829		TCGA-BP-5001-01A-01D-1392-10	TCGA-BP-5001-11A-01D-1392-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	b2427ca6-bcd0-4ab1-8e6d-3f48f7ff3a37	971f136c-e7eb-442a-a028-7491d68f3e57	g.chr3:10183811G>T	ENST00000256474.2	+	1	1120	c.280G>T	c.(280-282)Gag>Tag	p.E94*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.E94*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	94			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E94fs*39(1)|p.E94*(1)|p.F91fs*64(1)|p.R60fs*35(1)|p.P95fs*38(1)|p.E94fs*37(1)|p.V84_E94>E(1)|p.E94fs*66(1)|p.D92fs*65(1)|p.N90fs*38(1)|p.F91_E94del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTTCGACGGCGAGCCGCAGCC	0.701		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Deletion - Frameshift(4)|Insertion - Frameshift(3)|Deletion - In frame(1)|Substitution - Nonsense(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	kidney(11)	GRCh37	CM941369	VHL	M	rs5030829						13	15	14					3																	10183811		1937	3914	5851	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.280G>T	3.37:g.10183811G>T	ENSP00000256474:p.Glu94*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.874820	0.97055	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.16	4.23	0.50019	.	0.770667	0.12658	N	0.449860	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-3.4053	14.9261	0.70878	0.0:0.1572:0.8428:0.0	rs5030829	.	.	.	X	94	.	ENSP00000256474:E94X	E	+	1	0	VHL	10158811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.161000	0.42358	2.416000	0.81992	0.550000	0.68814	GAG		0.701	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183811	G	T	10183811	4	4	410	1	0	0	0	0	0	1	0	0	17167	1059	37	4	282	4	VHL	3	10183811	Nonsense_Mutation	SNP	G	TCGA-BP-5001-01A-01D-1392-10		10183811	187838619	1	22543											
SKI	6497	broad.mit.edu;hgsc.bcm.edu	37	1	2234822	2234822	+	Silent	SNP	G	G	A	rs374138016		TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:2234822G>A	ENST00000378536.4	+	3	1266	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	398					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P398P(1)		central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CACACCTCCCGGCCCTCATCC	0.642																																					Ovarian(177;144 1678 13697 20086 27838 40755)											1	Substitution - coding silent(1)	kidney(1)								1,4405	2.1+/-5.4	0,1,2202	79	81	80		1194	-7.9	0.9	1		80	0,8600		0,0,4300	no	coding-synonymous	SKI	NM_003036.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		398/729	2234822	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6497			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1194G>A	1.37:g.2234822G>A			Q5SYT7	Silent	SNP	ENST00000378536.4	37	CCDS39.1																																																																																				0.642	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		A	2234822	G	A	2234822	2	1	411	1	0	0	0	0	0	0	0	1	14363	1103	39	1		1	SKI	1	2234822	Silent	SNP	G	TCGA-BP-5001-01A-01D-1462-08		2234822	247015799	1	22544											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11227530	11227530	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:11227530A>G	ENST00000361445.4	-	29	4374	c.4298T>C	c.(4297-4299)tTa>tCa	p.L1433S	snoU13_ENST00000607349.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1433	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L1433S(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGCATATTCTAACACTCCGGC	0.473																																																2	Substitution - Missense(2)	breast(1)|kidney(1)											137	142	140					1																	11227530		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4298T>C	1.37:g.11227530A>G	ENSP00000354558:p.Leu1433Ser		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675763	0.67928	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.68181	-0.31	5.79	5.79	0.91817	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	D	0.85729	0.5764	M	0.92169	3.28	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	D	0.89228	0.3575	10	0.87932	D	0	-13.8768	16.1299	0.81422	1.0:0.0:0.0:0.0	.	1433	P42345	MTOR_HUMAN	S	1433	ENSP00000354558:L1433S	ENSP00000354558:L1433S	L	-	2	0	MTOR	11150117	1.000000	0.71417	0.832000	0.32986	0.992000	0.81027	8.370000	0.90120	2.215000	0.71742	0.528000	0.53228	TTA		0.473	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11227530	A	G	11227530	3	3	411	1	0	0	0	0	1	0	0	0	9956	372	13	3	3471	3	MTOR	1	11227530	Missense_Mutation	SNP	A	TCGA-BP-5001-01A-01D-1462-08	8992708	11227530	238023091	2	22545											
EIF4G3	8672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21133885	21133885	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:21133885C>T	ENST00000264211.8	-	31	4879	c.4685G>A	c.(4684-4686)gGc>gAc	p.G1562D	EIF4G3_ENST00000537738.1_Missense_Mutation_p.G1052D|EIF4G3_ENST00000602326.1_Missense_Mutation_p.G1568D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G1568D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G1562D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G1282D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.G1166D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1562	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.G1562D(1)|p.G1568D(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGAGCCACGCCCTTCCCATT	0.473																																																2	Substitution - Missense(2)	kidney(2)											192	192	192					1																	21133885		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4685G>A	1.37:g.21133885C>T	ENSP00000264211:p.Gly1562Asp		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824570	0.90955	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.6	5.6	0.85130	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.89213	0.6651	L	0.46614	1.455	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.99;1.0;0.994	D	0.89729	0.3925	10	0.87932	D	0	-12.9911	19.6136	0.95619	0.0:1.0:0.0:0.0	.	1757;1282;1166;1568;1562	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	1562;1758;1562;1282;1052;1568;1166	ENSP00000264211:G1562D;ENSP00000383274:G1562D;ENSP00000364071:G1282D;ENSP00000442010:G1052D;ENSP00000364073:G1568D;ENSP00000444693:G1166D	ENSP00000264211:G1562D	G	-	2	0	EIF4G3	21006472	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.792000	0.85828	2.641000	0.89580	0.585000	0.79938	GGC		0.473	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		T	21133885	C	T	21133885	3	4	411	1	0	0	0	0	1	0	0	0	5040	739	26	2	76	2	EIF4G3	1	21133885	Missense_Mutation	SNP	C	TCGA-BP-5001-01A-01D-1462-08	9906355	21133885	228116736	3	22546											
FCRL5	83416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157494128	157494128	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:157494128C>T	ENST00000361835.3	-	10	2337	c.2180G>A	c.(2179-2181)tGt>tAt	p.C727Y	FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368190.3_Missense_Mutation_p.C727Y|FCRL5_ENST00000368191.3_Missense_Mutation_p.C642Y|FCRL5_ENST00000356953.4_Missense_Mutation_p.C727Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	727	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.C727Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTCTGCCTCACAGGAGTAGAT	0.547																																																1	Substitution - Missense(1)	kidney(1)											61	66	65					1																	157494128		2203	4300	6503	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2180G>A	1.37:g.157494128C>T	ENSP00000354691:p.Cys727Tyr		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014076	0.54468	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80259	0.4590	H	0.98542	4.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.999;0.999	D	0.86630	0.1885	9	0.87932	D	0	.	13.5998	0.62013	0.0:1.0:0.0:0.0	.	642;727;727;727	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	Y	727;727;727;642	ENSP00000354691:C727Y;ENSP00000349434:C727Y;ENSP00000357173:C727Y;ENSP00000357174:C642Y	ENSP00000349434:C727Y	C	-	2	0	FCRL5	155760752	0.977000	0.34250	0.825000	0.32803	0.498000	0.33706	3.482000	0.53186	2.664000	0.90586	0.650000	0.86243	TGT		0.547	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		T	157494128	C	T	157494128	3	4	411	1	0	0	0	0	1	0	0	0	5800	478	17	2	785	2	FCRL5	1	157494128	Missense_Mutation	SNP	C	TCGA-BP-5001-01A-01D-1462-08	136360243	157494128	91756493	4	22547											
SPTA1	6708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158582607	158582607	+	Splice_Site	SNP	C	C	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:158582607C>A	ENST00000368147.4	-	51	7314	c.7134G>T	c.(7132-7134)caG>caT	p.Q2378H	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2378	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q2378H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGAATCGGACCTGCTTCATGT	0.458																																																1	Substitution - Missense(1)	kidney(1)											133	130	131					1																	158582607		1930	4128	6058	SO:0001630	splice_region_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7134+1G>T	1.37:g.158582607C>A			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815393	0.90790	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.43688	0.94;0.94	5.09	5.09	0.68999	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.30809	N	0.008838	T	0.47875	0.1469	L	0.46614	1.455	0.51482	D	0.999922	P	0.51147	0.942	P	0.59595	0.86	T	0.43212	-0.9405	10	0.62326	D	0.03	.	17.5944	0.88007	0.0:1.0:0.0:0.0	.	2378	P02549	SPTA1_HUMAN	H	2378;2375	ENSP00000357130:Q2378H;ENSP00000357129:Q2375H	ENSP00000357129:Q2375H	Q	-	3	2	SPTA1	156849231	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.312000	0.51927	2.795000	0.96236	0.655000	0.94253	CAG		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	A	158582607	C	A	158582607	5	1	411	1	0	0	0	0	0	0	1	0	15121	695	24	4	133	4	SPTA1	1	158582607	Splice_Site	SNP	C	TCGA-BP-5001-01A-01D-1462-08	1088479	158582607	90668014	5	22548											
CEP170	9859	hgsc.bcm.edu	37	1	243328392	243328393	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:243328392_243328393delTT	ENST00000366542.1	-	13	2920_2921	c.2869_2870delAA	c.(2869-2871)aagfs	p.K957fs	CEP170_ENST00000366544.1_Frame_Shift_Del_p.K859fs|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Frame_Shift_Del_p.K859fs	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	957	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AGTGAAACTCTTTCGCTTTTGG	0.376																																																0																																										SO:0001589	frameshift_variant	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2869_2870delAA	1.37:g.243328392_243328393delTT	ENSP00000355500:p.Lys957fs		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Frame_Shift_Del	DEL	ENST00000366542.1	37	CCDS44339.1																																																																																				0.376	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		-	243328393	TT	-	243328392	7	5	411	1	0	1	0	1	0	0	0	0	3252	1609	56	0	1946	0	CEP170	1	243328392	Frame_Shift_Del	DEL	TT	TCGA-BP-5001-01A-01D-1462-08	84745785	243328392	5922229	6	22549											
SDCCAG8	10806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	243581287	243581287	+	Silent	SNP	T	T	C			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr1:243581287T>C	ENST00000366541.3	+	15	1880	c.1762T>C	c.(1762-1764)Ttg>Ctg	p.L588L	SDCCAG8_ENST00000343783.6_Silent_p.L443L|SDCCAG8_ENST00000355875.4_Silent_p.L545L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	588	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.L588L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ACAGTATTTGTTGCTGACCTC	0.373																																																1	Substitution - coding silent(1)	kidney(1)											109	110	110					1																	243581287		2203	4300	6503	SO:0001819	synonymous_variant	10806			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1762T>C	1.37:g.243581287T>C			O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	CCDS31075.1																																																																																				0.373	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		C	243581287	T	C	243581287	2	2	411	1	0	0	0	0	0	0	0	1	13965	1722	60	3		3	SDCCAG8	1	243581287	Silent	SNP	T	TCGA-BP-5001-01A-01D-1462-08	252895	243581287	5669334	7	22550											
PLEKHH2	130271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43973091	43973091	+	Silent	SNP	A	A	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr2:43973091A>T	ENST00000282406.4	+	24	3752	c.3642A>T	c.(3640-3642)acA>acT	p.T1214T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1214	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.T1214T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCGTCTGACATACAAAAACA	0.378																																																1	Substitution - coding silent(1)	kidney(1)											70	64	66					2																	43973091		2203	4300	6503	SO:0001819	synonymous_variant	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3642A>T	2.37:g.43973091A>T			Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	CCDS1812.1																																																																																				0.378	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		T	43973091	A	T	43973091	2	4	411	1	0	0	0	0	0	0	0	1	12079	204	8	5		5	PLEKHH2	2	43973091	Silent	SNP	A	TCGA-BP-5001-01A-01D-1462-08		43973091	199226282	8	22551											
IL1RL1	9173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	102956734	102956734	+	Splice_Site	SNP	T	T	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr2:102956734T>G	ENST00000233954.1	+	4	718		c.e4+2		IL1RL1_ENST00000409584.1_Splice_Site|IL1RL1_ENST00000404917.2_Splice_Site|IL1RL1_ENST00000393393.3_Splice_Site|IL1RL1_ENST00000311734.2_Splice_Site	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.?(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGGTTTAAGGTAAGAAGAAAT	0.383																																																2	Unknown(2)	kidney(2)											51	52	52					2																	102956734		2203	4300	6503	SO:0001630	splice_region_variant	9173			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.447+2T>G	2.37:g.102956734T>G			A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Splice_Site	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	t	18.69	3.677549	0.68042	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000404917;ENST00000311734;ENST00000409584	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2036	0.59782	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL1RL1	102323166	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	4.061000	0.57485	2.100000	0.63781	0.460000	0.39030	.		0.383	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232	Intron	G	102956734	T	G	102956734	5	3	411	1	0	0	0	0	0	0	1	0	7665	1652	57	5	459	5	IL1RL1	2	102956734	Splice_Site	SNP	T	TCGA-BP-5001-01A-01D-1462-08	58983643	102956734	140242639	9	22552											
KCNH7	90134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	163279898	163279898	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr2:163279898T>G	ENST00000332142.5	-	9	2201	c.2102A>C	c.(2101-2103)gAa>gCa	p.E701A	KCNH7_ENST00000328032.4_Missense_Mutation_p.E694A	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	701					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E694A(1)|p.E701A(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAAATATTCTTCAAGACGTTG	0.453																																					GBM(196;1492 2208 17507 24132 45496)											2	Substitution - Missense(2)	kidney(2)											249	232	238					2																	163279898		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2102A>C	2.37:g.163279898T>G	ENSP00000331727:p.Glu701Ala		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805213	0.90623	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96554	-4.05;-4.05	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97971	0.9332	M	0.81341	2.54	0.80722	D	1	D;P	0.89917	1.0;0.781	D;B	0.87578	0.998;0.41	D	0.97844	1.0270	10	0.34782	T	0.22	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	694;701	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	A	701;694	ENSP00000331727:E701A;ENSP00000333781:E694A	ENSP00000333781:E694A	E	-	2	0	KCNH7	162988144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	GAA		0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		G	163279898	T	G	163279898	3	3	411	1	0	0	0	0	1	0	0	0	8039	1783	62	5	1586	5	KCNH7	2	163279898	Missense_Mutation	SNP	T	TCGA-BP-5001-01A-01D-1462-08	60323164	163279898	79919475	10	22553											
SATB2	23314	broad.mit.edu;hgsc.bcm.edu	37	2	200193631	200193631	+	Silent	SNP	T	T	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr2:200193631T>A	ENST00000417098.1	-	8	1992	c.1176A>T	c.(1174-1176)ggA>ggT	p.G392G	SATB2_ENST00000260926.5_Silent_p.G392G|SATB2_ENST00000443023.1_Silent_p.G333G|SATB2_ENST00000457245.1_Silent_p.G392G|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000428695.1_Silent_p.G274G	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	392					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.G392G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGACAACAATCCCTGATTAA	0.463																																					Colon(30;262 767 11040 24421 36230)											1	Substitution - coding silent(1)	kidney(1)											49	48	48					2																	200193631		2203	4300	6503	SO:0001819	synonymous_variant	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1176A>T	2.37:g.200193631T>A			A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	CCDS2327.1																																																																																				0.463	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		A	200193631	T	A	200193631	2	1	411	1	0	0	0	0	0	0	0	1	13860	1422	50	5		5	SATB2	2	200193631	Silent	SNP	T	TCGA-BP-5001-01A-01D-1462-08	36913733	200193631	43005742	11	22554											
ATG16L1	55054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234178666	234178666	+	Silent	SNP	G	G	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr2:234178666G>T	ENST00000392017.4	+	6	917	c.660G>T	c.(658-660)ctG>ctT	p.L220L	ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392020.4_Silent_p.L220L|ATG16L1_ENST00000373525.5_Silent_p.L76L|ATG16L1_ENST00000392018.1_Silent_p.L220L|ATG16L1_ENST00000347464.5_Silent_p.L76L	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	220	WIPI2-binding. {ECO:0000269|PubMed:24954904}.				autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)	p.L220L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AAGCCCGGCTGCAGAAAGAGC	0.443																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											73	87	82					2																	234178666		2203	4300	6503	SO:0001819	synonymous_variant	55054			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"WD repeat domain containing"	21498	protein-coding gene	gene with protein product		610767	"APG16 autophagy 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like 1 (S. cerevisiae)"	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.660G>T	2.37:g.234178666G>T			A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	37	CCDS2503.2																																																																																				0.443	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		T	234178666	G	T	234178666	2	4	411	1	0	0	0	0	0	0	0	1	1091	1306	46	4		4	ATG16L1	2	234178666	Silent	SNP	G	TCGA-BP-5001-01A-01D-1462-08	33985035	234178666	9020707	12	22555											
ITIH3	3699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52842629	52842629	+	Missense_Mutation	SNP	G	G	A	rs199755994	byFrequency	TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr3:52842629G>A	ENST00000449956.2	+	22	2611	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I	ITIH3_ENST00000416872.2_Missense_Mutation_p.V677I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	869					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V869I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGCTGGTTCGTCCACAACAA	0.537													G|||	5	0.000998403	0.0	0.0014	5008	,	,		19429	0.0		0.0	False		,,,				2504	0.0041															2	Substitution - Missense(2)	lung(1)|kidney(1)						G	ILE/VAL	1,4115		0,1,2057	110	109	110		2605	4.8	1	3		110	0,8380		0,0,4190	no	missense	ITIH3	NM_002217.3	29	0,1,6247	AA,AG,GG		0.0,0.0243,0.0080	possibly-damaging	869/891	52842629	1,12495	2058	4190	6248	SO:0001583	missense	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2605G>A	3.37:g.52842629G>A	ENSP00000415769:p.Val869Ile		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.36	3.369890	0.61624	2.43E-4	0.0	ENSG00000162267	ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.15603	2.41;2.41	5.65	4.77	0.60923	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.189856	0.46145	N	0.000311	T	0.33469	0.0864	L	0.54323	1.7	0.29241	N	0.872638	D;P	0.76494	0.999;0.86	D;B	0.79784	0.993;0.28	T	0.12218	-1.0556	10	0.30078	T	0.28	-32.0456	11.5653	0.50802	0.0839:0.0:0.9161:0.0	.	677;869	E7ET33;Q06033	.;ITIH3_HUMAN	I	864;677;869	ENSP00000413922:V677I;ENSP00000415769:V869I	ENSP00000273291:V864I	V	+	1	0	ITIH3	52817669	0.964000	0.33143	0.995000	0.50966	0.833000	0.47200	1.484000	0.35508	1.395000	0.46643	0.655000	0.94253	GTC		0.537	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		A	52842629	G	A	52842629	3	1	411	1	0	0	0	0	1	0	0	0	7907	1145	40	1	2691	1	ITIH3	3	52842629	Missense_Mutation	SNP	G	TCGA-BP-5001-01A-01D-1462-08		52842629	145179801	13	22556											
MYNN	55892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	169502437	169502437	+	Missense_Mutation	SNP	G	G	T	rs368467500		TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr3:169502437G>T	ENST00000349841.5	+	7	2174	c.1511G>T	c.(1510-1512)tGt>tTt	p.C504F	MYNN_ENST00000356716.4_Missense_Mutation_p.C504F|MYNN_ENST00000544106.1_Intron	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C504F(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGCGAATTATGTGGAAATTCT	0.264																																																1	Substitution - Missense(1)	kidney(1)											44	51	49					3																	169502437		2193	4271	6464	SO:0001583	missense	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1511G>T	3.37:g.169502437G>T	ENSP00000326240:p.Cys504Phe		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703198	0.88924	.	.	ENSG00000085274	ENST00000356716;ENST00000349841	D;D	0.85861	-2.04;-2.04	5.89	5.89	0.94794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95590	0.8654	10	0.87932	D	0	.	20.2361	0.98357	0.0:0.0:1.0:0.0	.	504	Q9NPC7	MYNN_HUMAN	F	504	ENSP00000349150:C504F;ENSP00000326240:C504F	ENSP00000326240:C504F	C	+	2	0	MYNN	170985131	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.357000	0.90088	2.791000	0.96007	0.591000	0.81541	TGT		0.264	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		T	169502437	G	T	169502437	3	4	411	1	0	0	0	0	1	0	0	0	10063	1377	48	4	1533	4	MYNN	3	169502437	Missense_Mutation	SNP	G	TCGA-BP-5001-01A-01D-1462-08	116659808	169502437	28519993	14	22557											
SH3BP2	6452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2833702	2833702	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr4:2833702A>G	ENST00000356331.5	+	10	1664	c.1403A>G	c.(1402-1404)gAa>gGa	p.E468G	SH3BP2_ENST00000452765.2_Missense_Mutation_p.E468G|SH3BP2_ENST00000511747.1_Missense_Mutation_p.E468G|SH3BP2_ENST00000503393.2_Missense_Mutation_p.E525G|SH3BP2_ENST00000442312.2_Missense_Mutation_p.E496G|SH3BP2_ENST00000435136.2_Missense_Mutation_p.E468G	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	468	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)	p.E468G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGCGAAGTGGAAAGGTCAGCA	0.612									Cherubism																																							1	Substitution - Missense(1)	kidney(1)											96	73	81					4																	2833702		2203	4300	6503	SO:0001583	missense	6452	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.1403A>G	4.37:g.2833702A>G	ENSP00000348685:p.Glu468Gly		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295469	0.81025	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	L	0.44542	1.39	0.80722	D	1	D;P;D;P;P	0.76494	0.986;0.941;0.999;0.747;0.658	P;P;D;B;P	0.71656	0.901;0.507;0.974;0.371;0.612	D	0.94130	0.7387	10	0.66056	D	0.02	-18.0486	13.2792	0.60205	1.0:0.0:0.0:0.0	.	496;443;443;525;468	B4DT04;Q6ZVU3;Q6ZTK4;D6R919;P78314	.;.;.;.;3BP2_HUMAN	G	468;496;468;468;525;468	ENSP00000409746:E468G;ENSP00000388152:E496G;ENSP00000403231:E468G;ENSP00000424846:E468G;ENSP00000422168:E525G;ENSP00000348685:E468G	ENSP00000348685:E468G	E	+	2	0	SH3BP2	2803500	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.303000	0.78871	1.953000	0.56701	0.533000	0.62120	GAA		0.612	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		G	2833702	A	G	2833702	3	3	411	1	0	0	0	0	1	0	0	0	14251	246	9	3	1696	3	SH3BP2	4	2833702	Missense_Mutation	SNP	A	TCGA-BP-5001-01A-01D-1462-08		2833702	188320574	15	22558											
GUCY1B3	2983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	156723600	156723600	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr4:156723600G>A	ENST00000264424.8	+	10	1364	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	GUCY1B3_ENST00000505764.1_Missense_Mutation_p.V408M|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.V360M|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.V450M|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.V395M|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.V360M|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.V403M	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	428	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.V428M(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TAGTGGCATTGTGGGCTTCAA	0.498																																																1	Substitution - Missense(1)	kidney(1)											109	108	108					4																	156723600		2078	4210	6288	SO:0001583	missense	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1282G>A	4.37:g.156723600G>A	ENSP00000264424:p.Val428Met		B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024826	0.93518	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.9	5.9	0.94986	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.996;0.999;0.995;0.988	T	0.82180	-0.0585	10	0.56958	D	0.05	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	408;450;403;395;428	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	M	360;450;408;403;428;395;360	ENSP00000427226:V360M;ENSP00000426786:V450M;ENSP00000426319:V408M;ENSP00000422313:V403M;ENSP00000264424:V428M;ENSP00000420842:V395M;ENSP00000425065:V360M	ENSP00000264424:V428M	V	+	1	0	GUCY1B3	156943050	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.869000	0.99810	2.788000	0.95919	0.650000	0.86243	GTG		0.498	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			A	156723600	G	A	156723600	3	1	411	1	0	0	0	0	1	0	0	0	6897	1377	48	2	1320	2	GUCY1B3	4	156723600	Missense_Mutation	SNP	G	TCGA-BP-5001-01A-01D-1462-08	153889898	156723600	34430676	16	22559											
PCDHGA2	56113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140718869	140718869	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr5:140718869G>T	ENST00000394576.2	+	1	331	c.331G>T	c.(331-333)Gag>Tag	p.E111*	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	111	Cadherin 1. {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)	p.E111*(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCTGCTGGAGGATAAATT	0.473																																																2	Substitution - Nonsense(2)	kidney(2)											56	59	58					5																	140718869		2203	4300	6503	SO:0001587	stop_gained	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.331G>T	5.37:g.140718869G>T	ENSP00000378077:p.Glu111*		Q52LL6|Q9Y5D5	Nonsense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	12.18	1.859934	0.32884	.	.	ENSG00000081853	ENST00000394576	.	.	.	5.26	4.35	0.52113	.	0.000000	0.41938	U	0.000792	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.8848	0.58038	0.0845:0.0:0.9155:0.0	.	.	.	.	X	111	.	ENSP00000378077:E111X	E	+	1	0	PCDHGA2	140699053	0.998000	0.40836	0.998000	0.56505	0.085000	0.17905	2.662000	0.46766	1.268000	0.44264	-0.345000	0.07892	GAG		0.473	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		T	140718869	G	T	140718869	4	4	411	1	0	0	0	0	0	1	0	0	11556	1175	41	4	333	4	PCDHGA2	5	140718869	Nonsense_Mutation	SNP	G	TCGA-BP-5001-01A-01D-1462-08		140718869	40196391	17	22560											
LAMA4	3910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	112513053	112513053	+	Splice_Site	SNP	C	C	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr6:112513053C>G	ENST00000230538.7	-	6	901		c.e6-1		LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site|LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000524032.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.?(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGGAGCACATCTGAAGAGGAA	0.363																																																2	Unknown(2)	lung(1)|kidney(1)											49	47	47					6																	112513053		2203	4300	6503	SO:0001630	splice_region_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.504-1G>C	6.37:g.112513053C>G			Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Splice_Site	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771307	0.69992	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6753	0.95930	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA4	112619746	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.452000	0.80683	2.648000	0.89879	0.563000	0.77884	.		0.363	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	Intron	G	112513053	C	G	112513053	5	3	411	1	0	0	0	0	0	0	1	0	8610	927	32	4	5104	4	LAMA4	6	112513053	Splice_Site	SNP	C	TCGA-BP-5001-01A-01D-1462-08		112513053	58602014	18	22561											
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu	37	7	21639512	21639512	+	Silent	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr7:21639512C>T	ENST00000409508.3	+	15	2806	c.2775C>T	c.(2773-2775)caC>caT	p.H925H	DNAH11_ENST00000328843.6_Silent_p.H925H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	925	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H925H(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTATAATGCACGACTTAGACT	0.398									Kartagener syndrome																																							1	Substitution - coding silent(1)	kidney(1)											88	82	84					7																	21639512		1847	4089	5936	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2775C>T	7.37:g.21639512C>T			Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21639512	C	T	21639512	2	4	411	1	0	0	0	0	0	0	0	1	4601	535	19	1		1	DNAH11	7	21639512	Silent	SNP	C	TCGA-BP-5001-01A-01D-1462-08		21639512	137499151	19	22562											
KIAA0196	9897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	126075842	126075842	+	Missense_Mutation	SNP	T	T	C	rs369756799		TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr8:126075842T>C	ENST00000318410.7	-	11	1679	c.1330A>G	c.(1330-1332)Aaa>Gaa	p.K444E	KIAA0196_ENST00000517845.1_Missense_Mutation_p.K296E	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	444					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)		p.K444E(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAACCCTCTTTCTTGTAATGC	0.388																																																1	Substitution - Missense(1)	kidney(1)						T	GLU/LYS	0,4406		0,0,2203	120	111	114		1330	4.7	1	8		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0196	NM_014846.3	56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	444/1160	126075842	1,13005	2203	4300	6503	SO:0001583	missense	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1330A>G	8.37:g.126075842T>C	ENSP00000318016:p.Lys444Glu		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906974	0.52333	0.0	1.16E-4	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.85773	-2.03;-2.03	5.83	4.69	0.59074	.	0.175379	0.64402	D	0.000011	T	0.79299	0.4422	L	0.45698	1.435	0.52501	D	0.999957	B;B	0.14012	0.002;0.009	B;B	0.19391	0.008;0.025	T	0.72858	-0.4165	10	0.21014	T	0.42	-16.8086	11.3095	0.49356	0.0:0.0704:0.0:0.9296	.	296;444	E7EQI7;Q12768	.;STRUM_HUMAN	E	444;296	ENSP00000318016:K444E;ENSP00000429676:K296E	ENSP00000318016:K444E	K	-	1	0	KIAA0196	126145024	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.197000	0.58413	2.231000	0.72958	0.459000	0.35465	AAA		0.388	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		C	126075842	T	C	126075842	3	2	411	1	0	0	0	0	1	0	0	0	8163	1792	62	3	2225	3	KIAA0196	8	126075842	Missense_Mutation	SNP	T	TCGA-BP-5001-01A-01D-1462-08		126075842	20288180	20	22563											
PTCH1	5727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	98209386	98209386	+	Silent	SNP	C	C	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr9:98209386C>G	ENST00000331920.6	-	23	4451	c.4152G>C	c.(4150-4152)ccG>ccC	p.P1384P	PTCH1_ENST00000375274.2_Silent_p.P1383P|PTCH1_ENST00000437951.1_Silent_p.P1318P|PTCH1_ENST00000418258.1_Silent_p.P1233P|PTCH1_ENST00000421141.1_Silent_p.P1233P|PTCH1_ENST00000429896.2_Silent_p.P1233P|PTCH1_ENST00000430669.2_Silent_p.P1318P	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1384					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.P1383P(2)|p.P1384P(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAGGGACAGGCGGCGGGTGCA	0.692																																																3	Substitution - coding silent(3)	kidney(3)											30	36	34					9																	98209386		2202	4297	6499	SO:0001819	synonymous_variant	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4152G>C	9.37:g.98209386C>G			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				0.692	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		G	98209386	C	G	98209386	2	3	411	1	0	0	0	0	0	0	0	1	12735	755	27	4		4	PTCH1	9	98209386	Silent	SNP	C	TCGA-BP-5001-01A-01D-1462-08		98209386	43004045	21	22564											
WAC	51322	hgsc.bcm.edu;ucsc.edu	37	10	28878756	28878756	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr10:28878756delA	ENST00000354911.4	+	5	634	c.473delA	c.(472-474)gaafs	p.E158fs	WAC_ENST00000347934.4_Frame_Shift_Del_p.E158fs|WAC_ENST00000375646.1_Frame_Shift_Del_p.E113fs|WAC_ENST00000375664.4_Frame_Shift_Del_p.E113fs|WAC_ENST00000428935.1_Frame_Shift_Del_p.E113fs	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	158	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCACAATGGGAAAAACCAAAA	0.338																																																0													76	82	80					10																	28878756		2203	4300	6503	SO:0001589	frameshift_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.473delA	10.37:g.28878756delA	ENSP00000346986:p.Glu158fs		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Frame_Shift_Del	DEL	ENST00000354911.4	37	CCDS7159.1																																																																																				0.338	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		-	28878756	A	-	28878756	7	5	411	1	0	1	0	1	0	0	0	0	17252	246	9	0	491	0	WAC	10	28878756	Frame_Shift_Del	DEL	A	TCGA-BP-5001-01A-01D-1462-08		28878756	106655991	22	22565											
DDX50	79009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70695795	70695795	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr10:70695795A>G	ENST00000373585.3	+	11	1662	c.1555A>G	c.(1555-1557)Aca>Gca	p.T519A	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	519	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.T519A(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TGTTCCTTCTACAATGGATTT	0.294																																																1	Substitution - Missense(1)	kidney(1)											69	65	67					10																	70695795		2202	4299	6501	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1555A>G	10.37:g.70695795A>G	ENSP00000362687:p.Thr519Ala		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	A	3.443	-0.113651	0.06881	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.17528	2.27	5.46	4.25	0.50352	Helicase, C-terminal (1);	0.253274	0.47852	D	0.000212	T	0.03827	0.0108	N	0.01015	-1.05	0.30204	N	0.798349	B	0.09022	0.002	B	0.06405	0.002	T	0.34925	-0.9809	10	0.07813	T	0.8	-12.7394	3.8747	0.09051	0.5936:0.0:0.0919:0.3145	.	519	Q9BQ39	DDX50_HUMAN	A	519	ENSP00000362687:T519A	ENSP00000362687:T519A	T	+	1	0	DDX50	70365801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.873000	0.56093	2.200000	0.70718	0.482000	0.46254	ACA		0.294	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		G	70695795	A	G	70695795	3	3	411	1	0	0	0	0	1	0	0	0	4370	391	14	3	1597	3	DDX50	10	70695795	Missense_Mutation	SNP	A	TCGA-BP-5001-01A-01D-1462-08	41817039	70695795	64838952	23	22566											
VWA2	340706	broad.mit.edu	37	10	116045700	116045700	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr10:116045700C>A	ENST00000392982.3	+	11	1250	c.1000C>A	c.(1000-1002)Ctg>Atg	p.L334M	VWA2_ENST00000603594.1_Missense_Mutation_p.L334M			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	334					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.L334M(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CCCCGCAGCCCTGAAGCTGAG	0.617																																																1	Substitution - Missense(1)	kidney(1)											55	46	49					10																	116045700		2203	4300	6503	SO:0001583	missense	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1000C>A	10.37:g.116045700C>A	ENSP00000376708:p.Leu334Met		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	C	15.14	2.743963	0.49151	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.78707	-1.2	5.8	4.89	0.63831	.	0.117006	0.64402	D	0.000015	T	0.76300	0.3968	L	0.37697	1.125	0.26957	N	0.965907	P;P;P	0.49358	0.904;0.874;0.923	P;B;P	0.50440	0.563;0.438;0.641	T	0.70230	-0.4929	10	0.44086	T	0.13	.	14.2607	0.66083	0.0:0.9279:0.0:0.0721	.	30;334;334	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	M	334	ENSP00000376708:L334M	ENSP00000298715:L334M	L	+	1	2	VWA2	116035690	1.000000	0.71417	0.988000	0.46212	0.475000	0.33008	5.517000	0.67061	1.442000	0.47568	0.557000	0.71058	CTG		0.617	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		A	116045700	C	A	116045700	3	1	411	1	0	0	0	0	1	0	0	0	17244	680	24	4	1038	4	VWA2	10	116045700	Missense_Mutation	SNP	C	TCGA-BP-5001-01A-01D-1462-08	45349905	116045700	19489047	24	22567											
C11orf30	56946	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	76261122	76261122	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr11:76261122G>A	ENST00000529032.1	+	20	3901	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N	C11orf30_ENST00000525038.1_Missense_Mutation_p.D1302N|C11orf30_ENST00000343878.3_Missense_Mutation_p.D1134N|C11orf30_ENST00000533248.1_Missense_Mutation_p.D1210N|C11orf30_ENST00000334736.3_Missense_Mutation_p.D1301N|C11orf30_ENST00000525919.1_Missense_Mutation_p.D1302N|C11orf30_ENST00000524767.1_Missense_Mutation_p.D1316N|C11orf30_ENST00000524490.1_Missense_Mutation_p.D1203N			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1301					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D1301N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AATGGAGCAGGACATAGACAG	0.507																																																1	Substitution - Missense(1)	kidney(1)											109	103	105					11																	76261122		2200	4292	6492	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3901G>A	11.37:g.76261122G>A	ENSP00000432327:p.Asp1301Asn		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391175	0.82902	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000532719	.	.	.	5.18	5.18	0.71444	.	0.048857	0.85682	D	0.000000	T	0.63896	0.2550	N	0.19112	0.55	0.38015	D	0.934673	D;P;P;D;P;D	0.61697	0.99;0.948;0.948;0.958;0.9;0.958	D;P;P;B;B;B	0.67900	0.954;0.533;0.533;0.395;0.307;0.395	T	0.70037	-0.4982	9	0.59425	D	0.04	-5.1911	18.8829	0.92364	0.0:0.0:1.0:0.0	.	1210;1302;1316;1302;1203;1301	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	N	1203;1301;1134;983;1316;1210;1302;1302;1301;274	.	ENSP00000334130:D1301N	D	+	1	0	C11orf30	75938770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.996000	0.93539	2.705000	0.92388	0.650000	0.86243	GAC		0.507	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		A	76261122	G	A	76261122	3	1	411	1	0	0	0	0	1	0	0	0	1638	1174	41	2	3979	2	C11orf30	11	76261122	Missense_Mutation	SNP	G	TCGA-BP-5001-01A-01D-1462-08		76261122	58745394	25	22568											
CHD4	1108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6701634	6701634	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr12:6701634A>T	ENST00000357008.2	-	19	3036	c.2873T>A	c.(2872-2874)cTc>cAc	p.L958H	CHD4_ENST00000309577.6_Missense_Mutation_p.L958H|CHD4_ENST00000544040.1_Missense_Mutation_p.L951H|CHD4_ENST00000544484.1_Missense_Mutation_p.L955H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	958					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.L958H(2)		central_nervous_system(2)	2						ATCGGCTTTGAGCCGCCGCAA	0.502																																					Colon(32;586 792 4568 16848 45314)											2	Substitution - Missense(2)	kidney(2)											83	83	83					12																	6701634		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2873T>A	12.37:g.6701634A>T	ENSP00000349508:p.Leu958His		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916518	0.73098	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.4	5.4	0.78164	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97315	0.9122	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.98278	1.0507	10	0.87932	D	0	.	15.4307	0.75092	1.0:0.0:0.0:0.0	.	958;958;951	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	955;951;958;958;932	ENSP00000440392:L955H;ENSP00000440542:L951H;ENSP00000312419:L958H;ENSP00000349508:L958H	ENSP00000312419:L958H	L	-	2	0	CHD4	6571895	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	9.307000	0.96226	2.047000	0.60756	0.460000	0.39030	CTC		0.502	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		T	6701634	A	T	6701634	3	4	411	1	0	0	0	0	1	0	0	0	3329	304	11	5	2953	5	CHD4	12	6701634	Missense_Mutation	SNP	A	TCGA-BP-5001-01A-01D-1462-08		6701634	127150261	26	22569											
SLCO1A2	6579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21454187	21454187	+	Silent	SNP	T	T	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr12:21454187T>A	ENST00000307378.6	-	8	1326	c.606A>T	c.(604-606)ggA>ggT	p.G202G	SLCO1A2_ENST00000458504.1_Silent_p.G70G|SLCO1A2_ENST00000452078.1_Silent_p.G202G|SLCO1A2_ENST00000390670.3_Silent_p.G200G|SLCO1A2_ENST00000537524.1_Silent_p.G70G	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	202					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.G202G(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CAATAATAGCTCCTGTTTCTA	0.333																																																1	Substitution - coding silent(1)	kidney(1)											61	56	58					12																	21454187		2203	4298	6501	SO:0001819	synonymous_variant	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.606A>T	12.37:g.21454187T>A			Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	CCDS8686.1																																																																																				0.333	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		A	21454187	T	A	21454187	2	1	411	1	0	0	0	0	0	0	0	1	14728	1538	54	5		5	SLCO1A2	12	21454187	Silent	SNP	T	TCGA-BP-5001-01A-01D-1462-08	14752553	21454187	112397708	27	22570											
PCBP2	5094	broad.mit.edu;hgsc.bcm.edu	37	12	53853119	53853119	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr12:53853119G>A	ENST00000439930.3	+	5	329	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Missense_Mutation_p.V103M|PCBP2_ENST00000552296.2_Missense_Mutation_p.V103M|PCBP2_ENST00000546463.1_Missense_Mutation_p.V103M|PCBP2_ENST00000548933.1_Missense_Mutation_p.V103M|PCBP2_ENST00000359462.5_Missense_Mutation_p.V103M|PCBP2_ENST00000552819.1_Missense_Mutation_p.V103M|PCBP2_ENST00000437231.1_Missense_Mutation_p.V103M|PCBP2_ENST00000359282.5_Missense_Mutation_p.V103M|PCBP2_ENST00000549863.1_Missense_Mutation_p.V103M|PCBP2_ENST00000447282.1_Missense_Mutation_p.V103M|PCBP2_ENST00000603815.1_Missense_Mutation_p.V103M|PCBP2_ENST00000455667.3_Missense_Mutation_p.V103M			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	103	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)	p.V103M(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CCTGAGGCTGGTGGTCCCTGC	0.478																																																1	Substitution - Missense(1)	kidney(1)											126	121	123					12																	53853119		2203	4300	6503	SO:0001583	missense	5094			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.307G>A	12.37:g.53853119G>A	ENSP00000408949:p.Val103Met		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239272	0.79800	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000551104;ENST00000550520;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000546652;ENST00000379777	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.83	4.83	0.62350	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.059764	0.64402	D	0.000003	T	0.45875	0.1364	L	0.39397	1.21	0.80722	D	1	P;P;P;P;P;P;B;D;P	0.56287	0.951;0.931;0.933;0.56;0.888;0.917;0.344;0.975;0.784	P;P;P;P;P;P;B;D;P	0.63597	0.852;0.709;0.829;0.517;0.616;0.738;0.412;0.916;0.723	T	0.42189	-0.9466	10	0.66056	D	0.02	.	16.8303	0.85942	0.0:0.0:1.0:0.0	.	103;64;103;103;103;103;103;103;103	B4DLC0;F8VRG9;Q15366;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.	M	103;103;103;103;103;103;103;45;103;103;95;103;64;103;103;103;84;65	ENSP00000446130:V103M;ENSP00000352228:V103M;ENSP00000394116:V103M;ENSP00000390304:V103M;ENSP00000408949:V103M;ENSP00000447670:V103M;ENSP00000352438:V103M;ENSP00000448762:V103M;ENSP00000446601:V103M;ENSP00000448847:V95M;ENSP00000448927:V103M;ENSP00000449070:V103M;ENSP00000388008:V103M;ENSP00000449062:V103M	ENSP00000352228:V103M	V	+	1	0	PCBP2	52139386	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	9.436000	0.97532	2.487000	0.83934	0.655000	0.94253	GTG		0.478	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		A	53853119	G	A	53853119	3	1	411	1	0	0	0	0	1	0	0	0	11503	1261	44	2	325	2	PCBP2	12	53853119	Missense_Mutation	SNP	G	TCGA-BP-5001-01A-01D-1462-08	32398932	53853119	79998776	28	22571											
GAS2L3	283431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	101017385	101017385	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr12:101017385G>A	ENST00000539410.1	+	9	1188	c.802G>A	c.(802-804)Gat>Aat	p.D268N	GAS2L3_ENST00000537247.1_Missense_Mutation_p.D164N|GAS2L3_ENST00000547754.1_Missense_Mutation_p.D268N|GAS2L3_ENST00000266754.5_Missense_Mutation_p.D268N			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	268	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)	p.D268N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGGAGGCTGGGATACTCTTCA	0.368																																																1	Substitution - Missense(1)	kidney(1)											152	153	152					12																	101017385		2203	4300	6503	SO:0001583	missense	283431			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.802G>A	12.37:g.101017385G>A	ENSP00000439672:p.Asp268Asn		B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483025	0.96307	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.30182	1.55;1.55;1.54;1.55	5.56	5.56	0.83823	Growth-arrest-specific protein 2 domain (4);	0.158234	0.53938	D	0.000042	T	0.53626	0.1808	L	0.52905	1.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.49418	-0.8942	10	0.51188	T	0.08	-22.1207	19.5451	0.95291	0.0:0.0:1.0:0.0	.	268	Q86XJ1	GA2L3_HUMAN	N	268;268;164;268	ENSP00000266754:D268N;ENSP00000448955:D268N;ENSP00000442406:D164N;ENSP00000439672:D268N	ENSP00000266754:D268N	D	+	1	0	GAS2L3	99541516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.629000	0.89072	0.655000	0.94253	GAT		0.368	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		A	101017385	G	A	101017385	3	1	411	1	0	0	0	0	1	0	0	0	6250	1174	41	2	832	2	GAS2L3	12	101017385	Missense_Mutation	SNP	G	TCGA-BP-5001-01A-01D-1462-08	47164266	101017385	32834510	29	22572											
GCN1L1	10985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120622633	120622633	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr12:120622633C>T	ENST00000300648.6	-	3	191	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	60					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.R60Q(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACCTATATCGATGCAGAGT	0.483																																																1	Substitution - Missense(1)	kidney(1)											92	88	89					12																	120622633		1902	4134	6036	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.179G>A	12.37:g.120622633C>T	ENSP00000300648:p.Arg60Gln		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378011	0.82682	.	.	ENSG00000089154	ENST00000300648	T	0.00664	5.92	5.87	4.97	0.65823	.	0.129899	0.51477	N	0.000092	T	0.01835	0.0058	L	0.29908	0.895	0.52501	D	0.999958	D	0.76494	0.999	P	0.58970	0.849	T	0.78532	-0.2168	10	0.26408	T	0.33	-9.5365	16.9644	0.86281	0.0:0.8723:0.1277:0.0	.	60	Q92616	GCN1L_HUMAN	Q	60	ENSP00000300648:R60Q	ENSP00000300648:R60Q	R	-	2	0	GCN1L1	119107016	1.000000	0.71417	0.999000	0.59377	0.447000	0.32167	6.179000	0.71974	1.457000	0.47850	0.456000	0.33151	CGA		0.483	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			T	120622633	C	T	120622633	3	4	411	1	0	0	0	0	1	0	0	0	6301	884	31	1	8060	1	GCN1L1	12	120622633	Missense_Mutation	SNP	C	TCGA-BP-5001-01A-01D-1462-08	19605248	120622633	13229262	30	22573											
FLRT2	23768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	86088842	86088842	+	Silent	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr14:86088842C>T	ENST00000330753.4	+	2	1751	c.984C>T	c.(982-984)atC>atT	p.I328I	FLRT2_ENST00000554746.1_Silent_p.I328I	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	328	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.I328I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCAAATATATCCCTTCATCTC	0.458																																																1	Substitution - coding silent(1)	kidney(1)											149	158	155					14																	86088842		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.984C>T	14.37:g.86088842C>T			A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.458	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			T	86088842	C	T	86088842	2	4	411	1	0	0	0	0	0	0	0	1	5941	845	30	2		2	FLRT2	14	86088842	Silent	SNP	C	TCGA-BP-5001-01A-01D-1462-08		86088842	21260698	31	22574											
TRADD	8717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67190505	67190505	+	Missense_Mutation	SNP	T	T	C	rs201153612		TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr16:67190505T>C	ENST00000345057.4	-	2	527	c.59A>G	c.(58-60)gAg>gGg	p.E20G	TRADD_ENST00000486556.1_5'Flank|TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	20					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)	p.E20G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCGAGGACTCCACAAACAG	0.607											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											204	155	172					16																	67190505		2198	4300	6498	SO:0001583	missense	8717			L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.59A>G	16.37:g.67190505T>C	ENSP00000341268:p.Glu20Gly	1097	B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	37	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366163	0.82463	.	.	ENSG00000102871	ENST00000345057	.	.	.	4.63	4.63	0.57726	TRADD, N-terminal (3);	0.341623	0.31199	N	0.008077	T	0.69169	0.3081	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.68443	-0.5407	9	0.40728	T	0.16	-26.8092	10.3546	0.43956	0.0:0.0:0.0:1.0	.	20;20	B4DWM0;Q15628	.;TRADD_HUMAN	G	20	.	ENSP00000341268:E20G	E	-	2	0	TRADD	65748006	1.000000	0.71417	0.986000	0.45419	0.960000	0.62799	2.388000	0.44398	1.961000	0.56991	0.379000	0.24179	GAG		0.607	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			C	67190505	T	C	67190505	3	2	411	1	0	0	0	0	1	0	0	0	16441	1551	54	3	895	3	TRADD	16	67190505	Missense_Mutation	SNP	T	TCGA-BP-5001-01A-01D-1462-08		67190505	23164248	32	22575											
ATMIN	23300	hgsc.bcm.edu	37	16	81069751	81069751	+	Silent	SNP	C	C	G	rs150799758	byFrequency	TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr16:81069751C>G	ENST00000299575.4	+	1	300	c.276C>G	c.(274-276)ggC>ggG	p.G92G	RP11-303E16.3_ENST00000561808.1_RNA|RP11-303E16.3_ENST00000566390.1_RNA|ATMIN_ENST00000564241.1_5'Flank	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	92					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCGGCTGCGGCAAGATCCTGC	0.746																																																0								C		0,3984		0,0,1992	12	12	12		276	3.1	1	16	dbSNP_134	12	11,7985		0,11,3987	no	coding-synonymous	ATMIN	NM_015251.2		0,11,5979	GG,GC,CC		0.1376,0.0,0.0918		92/824	81069751	11,11969	1992	3998	5990	SO:0001819	synonymous_variant	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.276C>G	16.37:g.81069751C>G			A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	CCDS32494.1																																																																																				0.746	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		G	81069751	C	G	81069751	2	3	411	1	0	0	0	0	0	0	0	1	1110	697	25	4		4	ATMIN	16	81069751	Silent	SNP	C	TCGA-BP-5001-01A-01D-1462-08	13879246	81069751	9285002	33	22576											
CHAD	1101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48543170	48543170	+	Missense_Mutation	SNP	C	C	T	rs142146358		TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr17:48543170C>T	ENST00000508540.1	-	2	988	c.836G>A	c.(835-837)cGc>cAc	p.R279H	CHAD_ENST00000258969.4_Missense_Mutation_p.R279H|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	279					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.R279H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CTGGTTCAAGCGGTTGTTCTC	0.587																																																1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	209	177	187		836,	5	1	17	dbSNP_134	187	2,8598	2.2+/-6.3	0,2,4298	yes	missense,intron	CHAD,ACSF2	NM_001267.2,NM_025149.4	29,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,	279/360,	48543170	3,13003	2203	4300	6503	SO:0001583	missense	1101			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.836G>A	17.37:g.48543170C>T	ENSP00000423812:p.Arg279His		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307290	0.60305	2.27E-4	2.33E-4	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.04706	3.57;3.57	4.97	4.97	0.65823	.	0.068094	0.64402	D	0.000009	T	0.09686	0.0238	L	0.43923	1.385	0.40179	D	0.97727	D	0.60575	0.988	P	0.55667	0.781	T	0.02358	-1.1171	10	0.48119	T	0.1	.	9.1725	0.37091	0.0:0.8407:0.0:0.1593	.	279	O15335	CHAD_HUMAN	H	279	ENSP00000423812:R279H;ENSP00000258969:R279H	ENSP00000258969:R279H	R	-	2	0	CHAD	45898169	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	1.403000	0.34612	2.578000	0.87016	0.655000	0.94253	CGC		0.587	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		T	48543170	C	T	48543170	3	4	411	1	0	0	0	0	1	0	0	0	3312	768	27	1	251	1	CHAD	17	48543170	Missense_Mutation	SNP	C	TCGA-BP-5001-01A-01D-1462-08		48543170	32652040	34	22577											
GRIN3B	116444	broad.mit.edu	37	19	1003373	1003374	+	Frame_Shift_Ins	INS	-	-	G	rs368703396|rs34585248	byFrequency	TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr19:1003373_1003374insG	ENST00000234389.3	+	2	690_691	c.671_672insG	c.(670-675)gcgccafs	p.P225fs	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	225					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGATGGCGGCGCCAGTGGGGG	0.743																																																0																																										SO:0001589	frameshift_variant	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.672dupG	19.37:g.1003374_1003374dupG	ENSP00000234389:p.Pro225fs		Q5EAK7|Q7RTW9	Frame_Shift_Ins	INS	ENST00000234389.3	37	CCDS32861.1																																																																																				0.743	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			G	1003374	-	G	1003373	7	5	411	1	0	1	1	0	0	0	0	0	6786	768	27	0	677	0	GRIN3B	19	1003373	Frame_Shift_Ins	INS	-	TCGA-BP-5001-01A-01D-1462-08		1003373	58125610	35	22578											
PTPRS	5802	broad.mit.edu	37	19	5231368	5231368	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr19:5231368C>A	ENST00000587303.1	-	13	2207	c.2108G>T	c.(2107-2109)gGa>gTa	p.G703V	PTPRS_ENST00000357368.4_Missense_Mutation_p.G703V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.G699V|PTPRS_ENST00000588012.1_Missense_Mutation_p.G690V|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000372412.4_Missense_Mutation_p.G704V|PTPRS_ENST00000348075.2_Missense_Mutation_p.G690V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	703	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G703V(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGGCCCTGGTCCCACCTCTGT	0.697																																																1	Substitution - Missense(1)	kidney(1)											56	52	53					19																	5231368		2203	4300	6503	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2108G>T	19.37:g.5231368C>A	ENSP00000467537:p.Gly703Val		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.250567	0.80135	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	3.9	3.9	0.45041	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000005	D	0.88310	0.6402	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93118	0.6522	10	0.87932	D	0	.	16.0475	0.80731	0.0:1.0:0.0:0.0	.	690;703	Q13332-6;Q13332	.;PTPRS_HUMAN	V	704;703;703;703;699;690	ENSP00000361489:G704V;ENSP00000349932:G703V;ENSP00000262963:G699V;ENSP00000269907:G690V	ENSP00000262963:G699V	G	-	2	0	PTPRS	5182368	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.191000	0.77763	1.996000	0.58369	0.556000	0.70494	GGA		0.697	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5231368	C	A	5231368	3	1	411	1	0	0	0	0	1	0	0	0	12817	855	30	4	3838	4	PTPRS	19	5231368	Missense_Mutation	SNP	C	TCGA-BP-5001-01A-01D-1462-08	4227995	5231368	53897615	36	22579											
PLEKHG2	64857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39915872	39915872	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr19:39915872A>G	ENST00000409794.3	+	19	4949	c.4099A>G	c.(4099-4101)Aca>Gca	p.T1367A	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.T1338A|PLEKHG2_ENST00000458508.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000409797.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1367					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1325A(1)|p.T1367A(1)|p.?(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTTGGCCTCCACACAGGAATC	0.632																																																3	Substitution - Missense(2)|Unknown(1)	kidney(3)											19	22	21					19																	39915872		2177	4247	6424	SO:0001583	missense	64857			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.4099A>G	19.37:g.39915872A>G	ENSP00000386733:p.Thr1367Ala		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	A	4.502	0.093130	0.08632	.	.	ENSG00000090924	ENST00000409794;ENST00000425673	T;T	0.67171	-0.24;-0.25	5.23	-1.36	0.09085	.	0.571782	0.14666	N	0.305649	T	0.43233	0.1238	L	0.28274	0.84	0.43814	D	0.996376	B;B	0.23937	0.094;0.015	B;B	0.24269	0.052;0.01	T	0.11036	-1.0604	9	.	.	.	.	2.8516	0.05560	0.2947:0.4559:0.0933:0.1561	.	1338;1367	Q9H7P9-3;Q9H7P9	.;PKHG2_HUMAN	A	1367;1338	ENSP00000386733:T1367A;ENSP00000392906:T1338A	.	T	+	1	0	PLEKHG2	44607712	0.005000	0.15991	0.437000	0.26809	0.313000	0.28021	-0.395000	0.07287	-0.002000	0.14469	0.533000	0.62120	ACA		0.632	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		G	39915872	A	G	39915872	3	3	411	1	0	0	0	0	1	0	0	0	12071	159	6	3	4169	3	PLEKHG2	19	39915872	Missense_Mutation	SNP	A	TCGA-BP-5001-01A-01D-1462-08	34684504	39915872	19213111	37	22580											
C20orf11	54994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	61574871	61574871	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chr20:61574871C>T	ENST00000266069.3	+	4	487	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	114	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cell junction (GO:0030054)|nucleus (GO:0005634)		p.R114C(1)									CGAGCTGATCCGCCAGCGGGA	0.622																																																1	Substitution - Missense(1)	kidney(1)											33	33	33					20																	61574871		2201	4299	6500	SO:0001583	missense	0			AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"chromosome 20 open reading frame 11", "GID complex subunit 8 homolog (S. cerevisiae)"	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.340C>T	20.37:g.61574871C>T	ENSP00000266069:p.Arg114Cys		E1P5I3|Q8N5M5	Missense_Mutation	SNP	ENST00000266069.3	37	CCDS13510.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771325	0.90108	.	.	ENSG00000101193	ENST00000266069	.	.	.	5.36	3.23	0.37069	CTLH, C-terminal LisH motif (2);	0.044648	0.85682	D	0.000000	T	0.73156	0.3551	M	0.76838	2.35	0.80722	D	1	D	0.56746	0.977	P	0.55011	0.766	T	0.78851	-0.2041	9	0.72032	D	0.01	-14.1046	13.9913	0.64369	0.2753:0.7247:0.0:0.0	.	114	Q9NWU2	CT011_HUMAN	C	114	.	ENSP00000266069:R114C	R	+	1	0	C20orf11	61045316	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.549000	0.60726	1.352000	0.45808	0.561000	0.74099	CGC		0.622	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080097.2	NM_017896		T	61574871	C	T	61574871	3	4	411	1	0	0	0	0	1	0	0	0	2081	652	23	1	350	1	C20orf11	20	61574871	Missense_Mutation	SNP	C	TCGA-BP-5001-01A-01D-1462-08		61574871	1450649	38	22581											
RNF113A	7737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	119004755	119004755	+	Silent	SNP	G	G	A			TCGA-BP-5001-01A-01D-1462-08	TCGA-BP-5001-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35f1f66f-e018-489c-915f-a12d7a15dc72	f3051a5d-409a-44db-8ad3-2cf4b12da802	g.chrX:119004755G>A	ENST00000371442.2	-	1	1036	c.822C>T	c.(820-822)gtC>gtT	p.V274V	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	274							zinc ion binding (GO:0008270)	p.V274V(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TGCACTTGGTGACAACTGGGT	0.498																																																1	Substitution - coding silent(1)	kidney(1)											138	120	126					X																	119004755		2203	4300	6503	SO:0001819	synonymous_variant	7737			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.822C>T	X.37:g.119004755G>A			B2RBR7	Silent	SNP	ENST00000371442.2	37	CCDS14589.1																																																																																				0.498	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		A	119004755	G	A	119004755	2	1	411	1	0	0	0	0	0	0	0	1	13433	1277	45	2		2	RNF113A	23	119004755	Silent	SNP	G	TCGA-BP-5001-01A-01D-1462-08		119004755	36265805	39	22582											
SYT11	23208	hgsc.bcm.edu;ucsc.edu	37	1	155829566	155829566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr1:155829566delC	ENST00000368324.4	+	1	267	c.14delC	c.(13-15)accfs	p.T5fs	GON4L_ENST00000361040.5_5'Flank|GON4L_ENST00000271883.5_5'Flank|GON4L_ENST00000437809.1_5'Flank|GON4L_ENST00000368331.1_5'Flank|SYT11_ENST00000539162.1_5'UTR|GON4L_ENST00000471341.1_5'Flank	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	5					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GCTGAGATCACCAATATCCGA	0.527																																																0													218	182	194					1																	155829566		2203	4300	6503	SO:0001589	frameshift_variant	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.14delC	1.37:g.155829566delC	ENSP00000357307:p.Thr5fs		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Frame_Shift_Del	DEL	ENST00000368324.4	37	CCDS1122.1																																																																																				0.527	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		-	155829566	C	-	155829566	7	5	412	1	0	1	0	1	0	0	0	0	15472	507	18	0	16	0	SYT11	1	155829566	Frame_Shift_Del	DEL	C	TCGA-BP-5004-01A-01D-1462-08		155829566	93421055	1	22583											
MEMO1	51072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32117195	32117195	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:32117195T>G	ENST00000295065.5	-	6	755	c.446A>C	c.(445-447)gAt>gCt	p.D149A	DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000379383.3_Missense_Mutation_p.D152A|MEMO1_ENST00000426310.2_Missense_Mutation_p.D126A|MEMO1_ENST00000404530.1_Missense_Mutation_p.D149A	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	149					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.D149A(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GGTAAACTCATCCTTATGGCT	0.328																																																1	Substitution - Missense(1)	kidney(1)											63	67	66					2																	32117195		2203	4300	6503	SO:0001583	missense	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"chromosome 2 open reading frame 4"	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.446A>C	2.37:g.32117195T>G	ENSP00000295065:p.Asp149Ala		B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.606410	0.46527	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	L	0.48877	1.53	0.80722	D	1	B;P	0.39696	0.321;0.683	B;B	0.38755	0.281;0.166	T	0.54043	-0.8352	9	0.39692	T	0.17	-6.2036	15.6821	0.77376	0.0:0.0:0.0:1.0	.	126;149	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	A	149;152;149;126	.	ENSP00000295065:D149A	D	-	2	0	MEMO1	31970699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.905000	0.87416	2.179000	0.69175	0.482000	0.46254	GAT		0.328	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		G	32117195	T	G	32117195	3	3	412	1	0	0	0	0	1	0	0	0	9473	1435	50	5	463	5	MEMO1	2	32117195	Missense_Mutation	SNP	T	TCGA-BP-5004-01A-01D-1462-08		32117195	211082178	2	22584											
CCDC75	253635	broad.mit.edu;ucsc.edu	37	2	37319307	37319307	+	Splice_Site	SNP	G	G	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:37319307G>C	ENST00000608836.1	+	6	582		c.e6-1		GPATCH11_ENST00000409774.1_Splice_Site|GPATCH11_ENST00000281932.5_Splice_Site	NM_174931.2	NP_777591.3	Q8N954	GPT11_HUMAN	G patch domain containing 11								nucleic acid binding (GO:0003676)	p.?(2)									CTTTCAATTAGAATGCGACTT	0.358																																																2	Unknown(2)	kidney(2)											33	37	36					2																	37319307		2203	4300	6503	SO:0001630	splice_region_variant	253635			AK095667	CCDS1785.2, CCDS62891.1, CCDS1785.3	2p22.2	2013-11-05	2013-01-28	2013-01-28	ENSG00000152133	ENSG00000152133		"G patch domain containing"	26768	protein-coding gene	gene with protein product	"centromere protein Y"		"coiled-coil domain containing 75"	CCDC75			Standard	NM_001278505		Approved	FLJ38348, CENPY, CENP-Y	uc010ezz.3	Q8N954	OTTHUMG00000128469	ENST00000608836.1:c.438-1G>C	2.37:g.37319307G>C			A8K0D9|B7Z2G4|B8ZZ44	Splice_Site	SNP	ENST00000608836.1	37	CCDS1785.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297453	0.81025	.	.	ENSG00000152133	ENST00000409774;ENST00000281932	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4777	0.90799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC75	37172811	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	8.938000	0.92943	2.596000	0.87737	0.655000	0.94253	.		0.358	GPATCH11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_174931	Intron	C	37319307	G	C	37319307	5	2	412	1	0	0	0	0	0	0	1	0	2851	956	33	4	455	4	CCDC75	2	37319307	Splice_Site	SNP	G	TCGA-BP-5004-01A-01D-1462-08	5202112	37319307	205880066	3	22585											
KIF5C	3800	broad.mit.edu;hgsc.bcm.edu	37	2	149793902	149793902	+	Splice_Site	SNP	G	G	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:149793902G>T	ENST00000435030.1	+	4	764	c.396G>T	c.(394-396)aaG>aaT	p.K132N	KIF5C_ENST00000414838.2_Splice_Site_p.K37N			O60282	KIF5C_HUMAN	kinesin family member 5C	132	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K132N(1)|p.K35N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TTCACATAAAGGTACGTATTA	0.443																																																2	Substitution - Missense(2)	kidney(2)											44	42	43					2																	149793902		1944	4172	6116	SO:0001630	splice_region_variant	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.396+1G>T	2.37:g.149793902G>T			O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	G	18.68	3.676305	0.67928	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436	T;T	0.75938	-0.98;-0.98	4.57	4.57	0.56435	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88838	0.3310	9	0.87932	D	0	.	17.5302	0.87811	0.0:0.0:1.0:0.0	.	132	O60282	KIF5C_HUMAN	N	132;37;35	ENSP00000393379:K132N;ENSP00000410115:K37N	ENSP00000334176:K35N	K	+	3	2	KIF5C	149502148	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	5.257000	0.65473	2.512000	0.84698	0.563000	0.77884	AAG		0.443	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	Missense_Mutation	T	149793902	G	T	149793902	5	4	412	1	0	0	0	0	0	0	1	0	8309	1014	35	4	332	4	KIF5C	2	149793902	Splice_Site	SNP	G	TCGA-BP-5004-01A-01D-1462-08	112474595	149793902	93405471	4	22586											
TTC30A	92104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178482340	178482340	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:178482340C>T	ENST00000355689.5	-	1	1354	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	364					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.A364T(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GTGATCAGGGCATCTAAGAAG	0.473																																																1	Substitution - Missense(1)	kidney(1)											125	130	128					2																	178482340		2203	4300	6503	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1090G>A	2.37:g.178482340C>T	ENSP00000347915:p.Ala364Thr		A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030564	0.54790	.	.	ENSG00000197557	ENST00000355689	T	0.32753	1.44	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.74478	-0.3652	10	0.87932	D	0	.	20.3829	0.98937	0.0:1.0:0.0:0.0	.	364	Q86WT1	TT30A_HUMAN	T	364	ENSP00000347915:A364T	ENSP00000347915:A364T	A	-	1	0	TTC30A	178190586	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	5.310000	0.65780	2.823000	0.97156	0.644000	0.83932	GCC		0.473	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		T	178482340	C	T	178482340	3	4	412	1	0	0	0	0	1	0	0	0	16703	710	25	2	911	2	TTC30A	2	178482340	Missense_Mutation	SNP	C	TCGA-BP-5004-01A-01D-1462-08	28688438	178482340	64717033	5	22587											
TNS1	7145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	218713105	218713105	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:218713105C>A	ENST00000171887.4	-	17	2212	c.1760G>T	c.(1759-1761)gGt>gTt	p.G587V	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_Missense_Mutation_p.G587V|TNS1_ENST00000430930.1_Missense_Mutation_p.G587V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	587					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.G712V(1)|p.G587V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCCAGCTAAACCCTCCTGTGC	0.667																																																2	Substitution - Missense(2)	kidney(2)											39	38	39					2																	218713105		2203	4299	6502	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1760G>T	2.37:g.218713105C>A	ENSP00000171887:p.Gly587Val		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770355	0.31320	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93763	-2.76;-2.76;-2.77;-3.28	4.57	3.68	0.42216	.	0.547984	0.19133	N	0.121895	D	0.86802	0.6020	L	0.36672	1.1	0.41043	D	0.985243	B;B;B;P;P	0.42123	0.048;0.303;0.357;0.771;0.612	B;B;B;B;B	0.37943	0.006;0.12;0.094;0.261;0.203	D	0.84444	0.0584	10	0.72032	D	0.01	.	3.6063	0.08043	0.0:0.5524:0.233:0.2146	.	587;641;587;587;587	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	V	587;587;587;712	ENSP00000171887:G587V;ENSP00000408724:G587V;ENSP00000406016:G587V;ENSP00000405460:G712V	ENSP00000171887:G587V	G	-	2	0	TNS1	218421350	0.001000	0.12720	0.990000	0.47175	0.981000	0.71138	0.838000	0.27572	1.120000	0.41904	0.561000	0.74099	GGT		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		A	218713105	C	A	218713105	3	1	412	1	0	0	0	0	1	0	0	0	16348	507	18	4	3515	4	TNS1	2	218713105	Missense_Mutation	SNP	C	TCGA-BP-5004-01A-01D-1462-08	40230765	218713105	24486268	6	22588											
VHL	7428	hgsc.bcm.edu	37	3	10183833	10183833	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr3:10183833T>C	ENST00000256474.2	+	1	1142	c.302T>C	c.(301-303)cTg>cCg	p.L101P	VHL_ENST00000345392.2_Missense_Mutation_p.L101P|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	101	Involved in binding to CCT complex.		L -> G (in VHLD; type I; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:9829911}.|L -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L101P(2)|p.L101_P102del(1)|p.L101del(1)|p.L101Q(1)|p.L101fs*57(1)|p.T100_G106>S(1)|p.Y98fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TACCCAACGCTGCCGCCTGGC	0.687		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Substitution - Missense(3)|Deletion - Frameshift(2)|Deletion - In frame(2)|Complex - deletion inframe(1)	kidney(7)|autonomic_ganglia(1)	GRCh37	CM961421	VHL	M							11	13	12					3																	10183833		1636	3490	5126	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.302T>C	3.37:g.10183833T>C	ENSP00000256474:p.Leu101Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430030	0.83776	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99886	-7.52;-7.52	5.17	4.01	0.46588	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.164670	0.40908	D	0.000999	D	0.99557	0.9841	M	0.80332	2.49	0.58432	D	0.999995	B;B	0.29671	0.18;0.254	B;B	0.29440	0.063;0.102	D	0.99421	1.0933	10	0.87932	D	0	-0.7535	9.2783	0.37714	0.0:0.0862:0.0:0.9138	.	101;101	P40337-2;P40337	.;VHL_HUMAN	P	101	ENSP00000256474:L101P;ENSP00000344757:L101P	ENSP00000256474:L101P	L	+	2	0	VHL	10158833	1.000000	0.71417	0.988000	0.46212	0.923000	0.55619	5.001000	0.63946	0.814000	0.34374	0.393000	0.25936	CTG		0.687	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10183833	T	C	10183833	3	2	412	1	0	0	0	0	1	0	0	0	17167	1580	55	3	304	3	VHL	3	10183833	Missense_Mutation	SNP	T	TCGA-BP-5004-01A-01D-1462-08		10183833	187838597	7	22589											
GNAT1	2779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	50231595	50231595	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr3:50231595A>G	ENST00000433068.1	+	6	705	c.649A>G	c.(649-651)Atc>Gtc	p.I217V	GNAT1_ENST00000232461.3_Missense_Mutation_p.I217V|GNAT1_ENST00000481246.1_3'UTR	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	217					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.I217V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGTGACCTGCATCATCTTCAT	0.672																																																1	Substitution - Missense(1)	kidney(1)											64	58	60					3																	50231595		2203	4300	6503	SO:0001583	missense	2779				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.649A>G	3.37:g.50231595A>G	ENSP00000387555:p.Ile217Val		Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717996	0.89205	.	.	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.90504	-2.68;-2.68	4.7	4.7	0.59300	.	0.048654	0.85682	D	0.000000	D	0.89044	0.6603	L	0.31294	0.92	0.58432	D	0.999999	P	0.35192	0.489	P	0.46208	0.507	D	0.89946	0.4076	10	0.87932	D	0	.	13.2999	0.60319	1.0:0.0:0.0:0.0	.	217	P11488	GNAT1_HUMAN	V	217	ENSP00000232461:I217V;ENSP00000387555:I217V	ENSP00000232461:I217V	I	+	1	0	GNAT1	50206599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.894000	0.92506	1.995000	0.58328	0.459000	0.35465	ATC		0.672	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		G	50231595	A	G	50231595	3	3	412	1	0	0	0	0	1	0	0	0	6513	217	8	3	671	3	GNAT1	3	50231595	Missense_Mutation	SNP	A	TCGA-BP-5004-01A-01D-1462-08	40047762	50231595	147790835	8	22590											
SFMBT1	51460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52940142	52940142	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr3:52940142delA	ENST00000394752.3	-	20	2829	c.2447delT	c.(2446-2448)atafs	p.I816fs	SFMBT1_ENST00000296295.6_Intron|SFMBT1_ENST00000394750.1_Frame_Shift_Del_p.I816fs|SFMBT1_ENST00000358080.2_Frame_Shift_Del_p.I816fs	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	816	SAM.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GTCTAGGAATATTCTTGCTAA	0.383																																																0													111	102	105					3																	52940142		2203	4300	6503	SO:0001589	frameshift_variant	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2447delT	3.37:g.52940142delA	ENSP00000378235:p.Ile816fs		Q402F7|Q96C73|Q9Y4Q9	Frame_Shift_Del	DEL	ENST00000394752.3	37	CCDS2867.1																																																																																				0.383	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		-	52940142	A	-	52940142	7	5	412	1	0	1	0	1	0	0	0	0	14163	449	16	0	161	0	SFMBT1	3	52940142	Frame_Shift_Del	DEL	A	TCGA-BP-5004-01A-01D-1462-08	2708547	52940142	145082288	9	22591											
C3orf37	56941	broad.mit.edu;hgsc.bcm.edu	37	3	129023468	129023468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr3:129023468C>T	ENST00000383463.4	+	7	954	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	HMCES_ENST00000417226.2_Nonsense_Mutation_p.Q247*|HMCES_ENST00000502878.2_Nonsense_Mutation_p.Q289*|HMCES_ENST00000389735.3_Nonsense_Mutation_p.Q289*	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	289							DNA binding (GO:0003677)|peptidase activity (GO:0008233)	p.Q289*(1)									GAGGATGTTGCAGTGGTTGGC	0.483																																																1	Substitution - Nonsense(1)	kidney(1)											138	135	136					3																	129023468		2203	4300	6503	SO:0001587	stop_gained	56941			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"SOS response associated peptidase domain containing 1"		"chromosome 3 open reading frame 37"	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.865C>T	3.37:g.129023468C>T	ENSP00000372955:p.Gln289*		A6NJR9|Q96G34|Q9NRP3	Nonsense_Mutation	SNP	ENST00000383463.4	37	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319822	0.95682	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735	.	.	.	4.02	3.13	0.36017	.	6.728470	0.00166	N	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-10.0228	9.617	0.39698	0.2095:0.7905:0.0:0.0	.	.	.	.	X	241;289;247;289;289	.	ENSP00000372955:Q289X	Q	+	1	0	C3orf37	130506158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.814000	0.27239	0.975000	0.38392	0.591000	0.81541	CAG		0.483	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		T	129023468	C	T	129023468	4	4	412	1	0	0	0	0	0	1	0	0	2229	711	25	2	887	2	C3orf37	3	129023468	Nonsense_Mutation	SNP	C	TCGA-BP-5004-01A-01D-1462-08	76083326	129023468	68998962	10	22592											
ATP13A4	84239	hgsc.bcm.edu;ucsc.edu	37	3	193159265	193159267	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr3:193159265_193159267delAGG	ENST00000342695.4	-	20	2749_2751	c.2427_2429delCCT	c.(2425-2430)agccta>aga	p.809_810SL>R	ATP13A4_ENST00000392443.3_In_Frame_Del_p.790_791SL>R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	809						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTTGGCAGTAGGCTGCTGAAAT	0.384																																																0																																										SO:0001651	inframe_deletion	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2427_2429delCCT	3.37:g.193159265_193159267delAGG	ENSP00000339182:p.Ser809_Leu810delinsArg		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	In_Frame_Del	DEL	ENST00000342695.4	37	CCDS3304.2																																																																																				0.384	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		-	193159267	AGG	-	193159265	7	5	412	1	0	1	0	1	0	0	0	0	1126	420	15	0	1205	0	ATP13A4	3	193159265	In_Frame_Del	DEL	AGG	TCGA-BP-5004-01A-01D-1462-08	64135797	193159265	4863165	11	22593											
NDUFC1	4717	hgsc.bcm.edu;ucsc.edu	37	4	140216207	140216209	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr4:140216207_140216209delAAG	ENST00000544855.1	-	4	988_990	c.159_161delCTT	c.(157-162)ttcttg>ttg	p.F53del	NDUFC1_ENST00000539002.1_In_Frame_Del_p.F53del|NDUFC1_ENST00000394228.1_In_Frame_Del_p.F53del|NDUFC1_ENST00000539387.1_In_Frame_Del_p.F53del|NDUFC1_ENST00000394223.1_In_Frame_Del_p.F53del|NDUFC1_ENST00000265500.4_In_Frame_Del_p.F53del|NDUFC1_ENST00000507764.1_5'Flank|NDUFC1_ENST00000505036.1_In_Frame_Del_p.F53del	NM_001184986.1	NP_001171915.1	O43677	NDUC1_HUMAN	NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa	53					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)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|upper_aerodigestive_tract(1)	2	all_hematologic(180;0.162)					ATAGATCCACAAGAAGACAGTGG	0.488											OREG0016331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001651	inframe_deletion	4717			AF047184	CCDS3746.1	4q31.1	2011-07-04	2002-08-29		ENSG00000109390	ENSG00000109390		"Mitochondrial respiratory chain complex / Complex I"	7705	protein-coding gene	gene with protein product	"complex I KFYI subunit"	603844	"NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1 (6kD, KFYI)"			9425316, 9763677	Standard	NM_001184986		Approved	KFYI	uc021xsa.1	O43677	OTTHUMG00000133387	ENST00000544855.1:c.159_161delCTT	4.37:g.140216210_140216212delAAG	ENSP00000441126:p.Phe53del	1654	A8K532|Q3MIJ9	In_Frame_Del	DEL	ENST00000544855.1	37	CCDS3746.1																																																																																				0.488	NDUFC1-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257237.1	NM_002494		-	140216209	AAG	-	140216207	7	5	412	1	0	1	0	1	0	0	0	0	10291	131	5	0	77	0	NDUFC1	4	140216207	In_Frame_Del	DEL	AAG	TCGA-BP-5004-01A-01D-1462-08		140216207	50938069	12	22594											
DHX29	54505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54585151	54585151	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr5:54585151G>A	ENST00000251636.5	-	8	1161	c.1013C>T	c.(1012-1014)gCa>gTa	p.A338V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	338						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.A338V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AAAATTCAATGCACTTTCTCC	0.343																																																1	Substitution - Missense(1)	kidney(1)											58	59	59					5																	54585151		2202	4299	6501	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1013C>T	5.37:g.54585151G>A	ENSP00000251636:p.Ala338Val		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861837	0.51482	.	.	ENSG00000067248	ENST00000251636	T	0.51817	0.69	5.8	5.8	0.92144	.	0.394431	0.27976	N	0.017088	T	0.38081	0.1027	N	0.22421	0.69	0.35101	D	0.765248	B	0.06786	0.001	B	0.04013	0.001	T	0.32955	-0.9887	10	0.24483	T	0.36	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	338	Q7Z478	DHX29_HUMAN	V	338	ENSP00000251636:A338V	ENSP00000251636:A338V	A	-	2	0	DHX29	54620908	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.783000	0.55409	2.732000	0.93576	0.650000	0.86243	GCA		0.343	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		A	54585151	G	A	54585151	3	1	412	1	0	0	0	0	1	0	0	0	4505	1319	46	2	3176	2	DHX29	5	54585151	Missense_Mutation	SNP	G	TCGA-BP-5004-01A-01D-1462-08		54585151	126330109	13	22595											
PCDHA10	56139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140236546	140236546	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr5:140236546G>A	ENST00000307360.5	+	1	913	c.913G>A	c.(913-915)Gat>Aat	p.D305N	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D305N|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D305N(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGTAAATGATGCTATTGA	0.383																																																2	Substitution - Missense(2)	kidney(2)											92	89	90					5																	140236546		2196	4270	6466	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.913G>A	5.37:g.140236546G>A	ENSP00000304234:p.Asp305Asn		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225876	0.39300	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.51071	4.68;0.72	4.29	4.29	0.51040	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37625	0.1010	N	0.16066	0.365	0.09310	N	1	B;B;P	0.37708	0.011;0.008;0.606	B;B;B	0.41271	0.014;0.008;0.352	T	0.38200	-0.9672	9	0.66056	D	0.02	.	14.5539	0.68086	0.0:0.1466:0.8534:0.0	.	305;305;305	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	N	305	ENSP00000421030:D305N;ENSP00000304234:D305N	ENSP00000304234:D305N	D	+	1	0	PCDHA10	140216730	0.969000	0.33509	0.018000	0.16275	0.994000	0.84299	5.302000	0.65733	2.383000	0.81215	0.561000	0.74099	GAT		0.383	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		A	140236546	G	A	140236546	3	1	412	1	0	0	0	0	1	0	0	0	11522	1290	45	2	915	2	PCDHA10	5	140236546	Missense_Mutation	SNP	G	TCGA-BP-5004-01A-01D-1462-08	85651395	140236546	40678714	14	22596											
MYO6	4646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	76570739	76570739	+	Splice_Site	SNP	G	G	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr6:76570739G>C	ENST00000369977.3	+	15	1612		c.e15-1		MYO6_ENST00000369981.3_Splice_Site|MYO6_ENST00000369975.1_Splice_Site|MYO6_ENST00000369985.4_Splice_Site	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI						actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTCATTTTTAGGAACAAGAAC	0.313																																																1	Unknown(1)	kidney(1)											134	132	133					6																	76570739		2203	4296	6499	SO:0001630	splice_region_variant	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1474-1G>C	6.37:g.76570739G>C			A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Splice_Site	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644508	0.87859	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO6	76627459	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.150000	0.94667	2.865000	0.98341	0.655000	0.94253	.		0.313	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	Intron	C	76570739	G	C	76570739	5	2	412	1	0	0	0	0	0	0	1	0	10083	1014	35	4	1527	4	MYO6	6	76570739	Splice_Site	SNP	G	TCGA-BP-5004-01A-01D-1462-08		76570739	94544328	15	22597											
MLLT4	4301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	168363200	168363200	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr6:168363200C>T	ENST00000447894.2	+	30	4900	c.4900C>T	c.(4900-4902)Cgc>Tgc	p.R1634C	MLLT4_ENST00000366806.2_Missense_Mutation_p.R1634C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1634					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.R1634C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAGGAAGAGCGCCGGCGGCA	0.547			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	1	Substitution - Missense(1)	kidney(1)											89	112	104					6																	168363200		2029	4170	6199	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4900C>T	6.37:g.168363200C>T	ENSP00000404595:p.Arg1634Cys		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	C	13.30	2.195144	0.38806	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.58210	3.56;0.66;3.55;0.66;0.66;0.35;0.66	4.06	3.16	0.36331	.	0.083308	0.45606	D	0.000348	T	0.54191	0.1843	L	0.57536	1.79	0.43255	D	0.995184	D;D;P	0.57571	0.966;0.98;0.95	B;P;P	0.59948	0.402;0.606;0.866	T	0.61197	-0.7111	10	0.87932	D	0	-3.5836	13.5002	0.61449	0.0:0.8355:0.1645:0.0	.	1634;1644;1632	P55196;P55196-5;P55196-6	AFAD_HUMAN;.;.	C	1646;1641;1632;1634;1617;1646;1644;1634	ENSP00000341118:R1646C;ENSP00000252692:R1641C;ENSP00000375956:R1632C;ENSP00000355771:R1634C;ENSP00000375960:R1617C;ENSP00000383623:R1644C;ENSP00000404595:R1634C	ENSP00000345834:R1646C	R	+	1	0	MLLT4	168106049	1.000000	0.71417	0.502000	0.27614	0.018000	0.09664	2.359000	0.44142	0.771000	0.33359	0.591000	0.81541	CGC		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		T	168363200	C	T	168363200	3	4	412	1	0	0	0	0	1	0	0	0	9631	768	27	1	5130	1	MLLT4	6	168363200	Missense_Mutation	SNP	C	TCGA-BP-5004-01A-01D-1462-08	91792461	168363200	2751867	16	22598											
USP42	84132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6190120	6190120	+	Silent	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr7:6190120C>T	ENST00000306177.5	+	14	2342	c.2184C>T	c.(2182-2184)ggC>ggT	p.G728G		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	728					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.G856G(1)|p.G728G(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AACTGAAAGGCTCGACGGATG	0.428																																																2	Substitution - coding silent(2)	kidney(2)											92	93	93					7																	6190120		1894	4115	6009	SO:0001819	synonymous_variant	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2184C>T	7.37:g.6190120C>T			A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	CCDS47535.1																																																																																				0.428	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		T	6190120	C	T	6190120	2	4	412	1	0	0	0	0	0	0	0	1	17078	784	28	2		2	USP42	7	6190120	Silent	SNP	C	TCGA-BP-5004-01A-01D-1462-08		6190120	152948543	17	22599											
GLI3	2737	broad.mit.edu;hgsc.bcm.edu	37	7	42006052	42006052	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr7:42006052G>T	ENST00000395925.3	-	15	2703	c.2619C>A	c.(2617-2619)agC>agA	p.S873R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	873					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S873R(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGAGCGGCGGCTGGAGAAGC	0.687									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							1	Substitution - Missense(1)	kidney(1)											20	21	21					7																	42006052		2153	4227	6380	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2619C>A	7.37:g.42006052G>T	ENSP00000379258:p.Ser873Arg		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586697	0.66105	.	.	ENSG00000106571	ENST00000395925	D	0.94000	-3.33	4.85	4.85	0.62838	.	0.076269	0.85682	D	0.000000	D	0.96244	0.8775	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96213	0.9154	10	0.87932	D	0	.	8.9462	0.35760	0.1659:0.0:0.8341:0.0	.	873	P10071	GLI3_HUMAN	R	873	ENSP00000379258:S873R	ENSP00000379258:S873R	S	-	3	2	GLI3	41972577	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.289000	0.33307	2.214000	0.71695	0.462000	0.41574	AGC		0.687	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		T	42006052	G	T	42006052	3	4	412	1	0	0	0	0	1	0	0	0	6441	1194	42	4	2127	4	GLI3	7	42006052	Missense_Mutation	SNP	G	TCGA-BP-5004-01A-01D-1462-08	35815932	42006052	117132611	18	22600											
CCDC146	57639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	76916144	76916144	+	Silent	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr7:76916144C>T	ENST00000285871.4	+	16	2305	c.2178C>T	c.(2176-2178)gaC>gaT	p.D726D	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Silent_p.D440D	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	726								p.D726D(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GAATTAAAGACCTGGAGAAAC	0.368																																																1	Substitution - coding silent(1)	kidney(1)											94	104	100					7																	76916144		2203	4300	6503	SO:0001819	synonymous_variant	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2178C>T	7.37:g.76916144C>T			A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	37	CCDS34671.1																																																																																				0.368	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		T	76916144	C	T	76916144	2	4	412	1	0	0	0	0	0	0	0	1	2782	506	18	2		2	CCDC146	7	76916144	Silent	SNP	C	TCGA-BP-5004-01A-01D-1462-08	34910092	76916144	82222519	19	22601											
C7orf51	222950	hgsc.bcm.edu;ucsc.edu	37	7	100086161	100086161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr7:100086161delG	ENST00000300179.2	+	4	976	c.817delG	c.(817-819)gggfs	p.G273fs	NYAP1_ENST00000454988.1_Frame_Shift_Del_p.G216fs|NYAP1_ENST00000423930.1_Frame_Shift_Del_p.G273fs	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	273					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGAAGAGGCTGGGGAAGGCCG	0.677																																																0													33	40	38					7																	100086161		2200	4295	6495	SO:0001589	frameshift_variant	0			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.817delG	7.37:g.100086161delG	ENSP00000300179:p.Gly273fs		Q6U9Y3|Q8N1V0	Frame_Shift_Del	DEL	ENST00000300179.2	37	CCDS5696.1																																																																																				0.677	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		-	100086161	G	-	100086161	7	5	412	1	0	1	0	1	0	0	0	0	2402	1348	47	0	827	0	C7orf51	7	100086161	Frame_Shift_Del	DEL	G	TCGA-BP-5004-01A-01D-1462-08	23170017	100086161	59052502	20	22602											
RNF148	378925	broad.mit.edu;hgsc.bcm.edu	37	7	122342196	122342196	+	Silent	SNP	G	G	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr7:122342196G>C	ENST00000434824.1	-	1	825	c.609C>G	c.(607-609)gcC>gcG	p.A203A	RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|RNF133_ENST00000340112.2_5'Flank|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	203						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A203A(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AGTAAAAGTAGGCAATTGTGG	0.438																																																2	Substitution - coding silent(2)	kidney(2)											117	115	115					7																	122342196		2000	4177	6177	SO:0001819	synonymous_variant	378925			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"RING-type (C3HC4) zinc fingers"	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.609C>G	7.37:g.122342196G>C			A4D0X4|Q8N308	Silent	SNP	ENST00000434824.1	37	CCDS47692.1																																																																																				0.438	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		C	122342196	G	C	122342196	2	2	412	1	0	0	0	0	0	0	0	1	13455	987	35	4		4	RNF148	7	122342196	Silent	SNP	G	TCGA-BP-5004-01A-01D-1462-08	22256035	122342196	36796467	21	22603											
SH2D3C	10044	hgsc.bcm.edu;ucsc.edu	37	9	130502552	130502552	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr9:130502552delG	ENST00000314830.8	-	10	2298	c.2185delC	c.(2185-2187)ctcfs	p.L729fs	SH2D3C_ENST00000373277.4_Frame_Shift_Del_p.L572fs|SH2D3C_ENST00000373276.3_Frame_Shift_Del_p.L661fs|SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000429553.1_Frame_Shift_Del_p.L375fs|SH2D3C_ENST00000420366.1_Frame_Shift_Del_p.L571fs|SH2D3C_ENST00000373274.3_Frame_Shift_Del_p.L569fs	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	729	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCTCGTTGAGGCTCTTGAGA	0.572																																																0													137	107	117					9																	130502552		2203	4300	6503	SO:0001589	frameshift_variant	10044			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2185delC	9.37:g.130502552delG	ENSP00000317817:p.Leu729fs		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Frame_Shift_Del	DEL	ENST00000314830.8	37	CCDS6877.1																																																																																				0.572	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		-	130502552	G	-	130502552	7	5	412	1	0	1	0	1	0	0	0	0	14240	1000	35	0	409	0	SH2D3C	9	130502552	Frame_Shift_Del	DEL	G	TCGA-BP-5004-01A-01D-1462-08		130502552	10710879	22	22604											
COL5A1	1289	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	137623935	137623935	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr9:137623935G>A	ENST00000371817.3	+	9	1765	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	451	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.E451K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCTCGGGGCGAGAAAGGCCA	0.542																																																1	Substitution - Missense(1)	kidney(1)											112	100	104					9																	137623935		2203	4300	6503	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1351G>A	9.37:g.137623935G>A	ENSP00000360882:p.Glu451Lys		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063080	0.55432	.	.	ENSG00000130635	ENST00000371817	D	0.96587	-4.06	4.53	4.53	0.55603	.	0.000000	0.85682	U	0.000000	D	0.94085	0.8104	M	0.62723	1.935	0.58432	D	0.999991	D	0.52996	0.957	B	0.36666	0.23	D	0.94452	0.7668	10	0.52906	T	0.07	.	16.2528	0.82494	0.0:0.0:1.0:0.0	.	451	P20908	CO5A1_HUMAN	K	451	ENSP00000360882:E451K	ENSP00000360882:E451K	E	+	1	0	COL5A1	136763756	1.000000	0.71417	0.998000	0.56505	0.538000	0.34931	6.781000	0.75068	2.044000	0.60594	0.462000	0.41574	GAG		0.542	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		A	137623935	G	A	137623935	3	1	412	1	0	0	0	0	1	0	0	0	3698	1059	37	1	1385	1	COL5A1	9	137623935	Missense_Mutation	SNP	G	TCGA-BP-5004-01A-01D-1462-08	7121383	137623935	3589496	23	22605											
BEND7	222389	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	13523079	13523079	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr10:13523079A>G	ENST00000396900.2	-	6	882	c.883T>C	c.(883-885)Tct>Cct	p.S295P	BEND7_ENST00000341083.3_Missense_Mutation_p.S243P|BEND7_ENST00000378605.3_Missense_Mutation_p.S256P|BEND7_ENST00000396898.2_Missense_Mutation_p.S308P			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	295	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					extracellular vesicular exosome (GO:0070062)		p.S256P(1)|p.S243P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCCAGCTGAGATTTAGGCATA	0.393																																																2	Substitution - Missense(2)	kidney(2)											121	116	118					10																	13523079		2203	4300	6503	SO:0001583	missense	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.883T>C	10.37:g.13523079A>G	ENSP00000380108:p.Ser295Pro		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37		.	.	.	.	.	.	.	.	.	.	A	20.7	4.029643	0.75504	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.53640	0.61;0.61;0.66;0.67	5.97	5.97	0.96955	BEN domain (1);	0.047277	0.85682	D	0.000000	T	0.49795	0.1578	N	0.08118	0	0.47659	D	0.999486	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.68943	0.937;0.914;0.961	T	0.61153	-0.7120	10	0.72032	D	0.01	-14.8497	16.4608	0.84044	1.0:0.0:0.0:0.0	.	308;295;243	E5RFC0;Q8N7W2;Q8N7W2-3	.;BEND7_HUMAN;.	P	295;243;308;256	ENSP00000380108:S295P;ENSP00000345773:S243P;ENSP00000380107:S308P;ENSP00000367868:S256P	ENSP00000345773:S243P	S	-	1	0	BEND7	13563085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.855000	0.75445	2.288000	0.76882	0.533000	0.62120	TCT		0.393	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		G	13523079	A	G	13523079	3	3	412	1	0	0	0	0	1	0	0	0	1403	333	12	3	707	3	BEND7	10	13523079	Missense_Mutation	SNP	A	TCGA-BP-5004-01A-01D-1462-08		13523079	122011668	24	22606											
TNNT3	7140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1955173	1955173	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr11:1955173G>A	ENST00000397301.1	+	12	342	c.334G>A	c.(334-336)Gca>Aca	p.A112T	TNNT3_ENST00000278317.6_Missense_Mutation_p.A101T|TNNT3_ENST00000381549.3_Missense_Mutation_p.A93T|TNNT3_ENST00000381589.3_Missense_Mutation_p.A99T|TNNT3_ENST00000397304.2_Missense_Mutation_p.A82T|TNNT3_ENST00000446240.1_Missense_Mutation_p.A82T|TNNT3_ENST00000381561.4_Missense_Mutation_p.A104T|TNNT3_ENST00000381579.3_Missense_Mutation_p.A93T|TNNT3_ENST00000360603.3_Missense_Mutation_p.A95T|TNNT3_ENST00000381548.3_Missense_Mutation_p.A103T|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381558.1_Missense_Mutation_p.A93T			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	112					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.A101T(1)|p.A99T(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCGCCGTGCAGAGAGAGC	0.652																																																2	Substitution - Missense(2)	kidney(2)											40	42	41					11																	1955173		2200	4297	6497	SO:0001583	missense	7140			M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"troponin-T3, skeletal, fast"	600692	"troponin T3, skeletal, fast"			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.334G>A	11.37:g.1955173G>A	ENSP00000380468:p.Ala112Thr		A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37		.	.	.	.	.	.	.	.	.	.	.	15.60	2.881286	0.51801	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	4.14	4.14	0.48551	.	0.120985	0.53938	D	0.000041	D	0.92093	0.7494	M	0.66439	2.03	0.58432	D	0.999993	P;P;P;P	0.50156	0.932;0.932;0.932;0.932	P;P;P;P	0.45856	0.495;0.495;0.495;0.495	D	0.93130	0.6532	10	0.56958	D	0.05	-12.1919	16.9606	0.86271	0.0:0.0:1.0:0.0	.	101;93;99;93	P45378-2;P45378-7;P45378-6;P45378-4	.;.;.;.	T	101;113;104;103;95;93;99;93;87;82;104;88;93;112;82;82	ENSP00000278317:A101T;ENSP00000370973:A104T;ENSP00000370960:A103T;ENSP00000353815:A95T;ENSP00000370961:A93T;ENSP00000371001:A99T;ENSP00000370991:A93T;ENSP00000370969:A87T;ENSP00000415614:A82T;ENSP00000370975:A104T;ENSP00000344870:A88T;ENSP00000370970:A93T;ENSP00000380468:A112T;ENSP00000380471:A82T;ENSP00000413203:A82T	ENSP00000278317:A101T	A	+	1	0	TNNT3	1911749	1.000000	0.71417	0.020000	0.16555	0.300000	0.27592	4.199000	0.58426	2.314000	0.78098	0.313000	0.20887	GCA		0.652	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		A	1955173	G	A	1955173	3	1	412	1	0	0	0	0	1	0	0	0	16337	1319	46	2	380	2	TNNT3	11	1955173	Missense_Mutation	SNP	G	TCGA-BP-5004-01A-01D-1462-08		1955173	133051343	25	22607											
FADS2	9415	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61608124	61608124	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr11:61608124A>C	ENST00000278840.4	+	4	1175	c.545A>C	c.(544-546)tAt>tCt	p.Y182S	FADS2_ENST00000257261.6_Missense_Mutation_p.Y160S|FADS2_ENST00000521849.1_Missense_Mutation_p.Y182S|FADS2_ENST00000522056.1_Missense_Mutation_p.Y151S	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	182					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.Y182S(1)|p.Y160S(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CAACATGATTATGGCCACCTG	0.547																																																2	Substitution - Missense(2)	kidney(2)											199	181	187					11																	61608124		2202	4299	6501	SO:0001583	missense	9415			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.545A>C	11.37:g.61608124A>C	ENSP00000278840:p.Tyr182Ser		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304513	0.40795	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000518606;ENST00000278840;ENST00000517312;ENST00000521849	T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31	4.81	1.02	0.19986	Fatty acid desaturase, type 1 (1);	0.131436	0.34110	N	0.004241	T	0.16642	0.0400	N	0.20685	0.6	0.33831	D	0.630262	P;P;B;B	0.45212	0.853;0.853;0.058;0.217	P;P;B;B	0.53760	0.734;0.646;0.138;0.138	T	0.18745	-1.0327	10	0.21540	T	0.41	-25.1084	11.197	0.48719	0.3068:0.0:0.0:0.6932	.	151;182;182;160	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	S	160;151;60;182;60;182	ENSP00000257261:Y160S;ENSP00000429500:Y151S;ENSP00000430054:Y60S;ENSP00000278840:Y182S;ENSP00000430225:Y60S;ENSP00000431091:Y182S	ENSP00000257261:Y160S	Y	+	2	0	FADS2	61364700	0.960000	0.32886	0.001000	0.08648	0.809000	0.45718	2.489000	0.45285	-0.002000	0.14469	0.482000	0.46254	TAT		0.547	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		C	61608124	A	C	61608124	3	2	412	1	0	0	0	0	1	0	0	0	5368	449	16	5	559	5	FADS2	11	61608124	Missense_Mutation	SNP	A	TCGA-BP-5004-01A-01D-1462-08	59652951	61608124	73398392	26	22608											
PPFIA1	8500	hgsc.bcm.edu;ucsc.edu	37	11	70172880	70172888	+	In_Frame_Del	DEL	AAATCTGAA	AAATCTGAA	-	rs374865980		TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	AAATCTGAA	AAATCTGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr11:70172880_70172888delAAATCTGAA	ENST00000253925.7	+	7	1101_1109	c.886_894delAAATCTGAA	c.(886-894)aaatctgaadel	p.KSE296del	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_In_Frame_Del_p.KSE296del|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	296					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGATCTCATCAAATCTGAAGAAATGAACA	0.411																																																0																																										SO:0001651	inframe_deletion	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.886_894delAAATCTGAA	11.37:g.70172880_70172888delAAATCTGAA	ENSP00000253925:p.Lys296_Glu298del		A6NLE3|Q13135|Q14567|Q8N4I2	In_Frame_Del	DEL	ENST00000253925.7	37	CCDS31627.1																																																																																				0.411	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		-	70172888	AAATCTGAA	-	70172880	7	5	412	1	0	1	0	1	0	0	0	0	12311	131	5	0	908	0	PPFIA1	11	70172880	In_Frame_Del	DEL	AAATCTGAA	TCGA-BP-5004-01A-01D-1462-08	8564756	70172880	64833636	27	22609											
DEFB108B	245911	broad.mit.edu;hgsc.bcm.edu	37	11	71548458	71548458	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr11:71548458C>G	ENST00000328698.1	+	2	72	c.72C>G	c.(70-72)ttC>ttG	p.F24L	DEFB108B_ENST00000529157.1_3'UTR	NM_001002035.1	NP_001002035.1	Q8NET1	D108B_HUMAN	defensin, beta 108B	24					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.F24L(1)		endometrium(1)|kidney(1)|lung(2)|skin(1)	5						GGGGCAAATTCAAGGAGATCT	0.453																																																1	Substitution - Missense(1)	kidney(1)											114	116	115					11																	71548458		2200	4293	6493	SO:0001583	missense	245911			AF529416	CCDS31631.1	11q13.4	2011-03-29			ENSG00000184276	ENSG00000184276		"Defensins, beta"	29966	protein-coding gene	gene with protein product							Standard	NM_001002035		Approved		uc010rqr.2	Q8NET1	OTTHUMG00000167533	ENST00000328698.1:c.72C>G	11.37:g.71548458C>G	ENSP00000333234:p.Phe24Leu			Missense_Mutation	SNP	ENST00000328698.1	37	CCDS31631.1	.	.	.	.	.	.	.	.	.	.	.	8.401	0.841883	0.16963	.	.	ENSG00000184276	ENST00000328698	T	0.12465	2.68	1.49	0.449	0.16619	.	0.219660	0.23364	N	0.048981	T	0.08223	0.0205	.	.	.	0.09310	N	0.999995	B	0.06786	0.001	B	0.01281	0.0	T	0.24440	-1.0160	9	0.41790	T	0.15	.	5.4201	0.16396	0.0:0.6406:0.3594:0.0	.	24	Q8NET1	D108B_HUMAN	L	24	ENSP00000333234:F24L	ENSP00000333234:F24L	F	+	3	2	DEFB108B	71226106	0.888000	0.30383	0.404000	0.26397	0.650000	0.38633	0.506000	0.22658	0.168000	0.19655	0.385000	0.25706	TTC		0.453	DEFB108B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394945.1	NM_001002035		G	71548458	C	G	71548458	3	3	412	1	0	0	0	0	1	0	0	0	4401	825	29	4	78	4	DEFB108B	11	71548458	Missense_Mutation	SNP	C	TCGA-BP-5004-01A-01D-1462-08	1375578	71548458	63458058	28	22610											
UVRAG	7405	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	75852292	75852292	+	Silent	SNP	A	A	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr11:75852292A>T	ENST00000356136.3	+	15	2176	c.1935A>T	c.(1933-1935)tcA>tcT	p.S645S	UVRAG_ENST00000528420.1_Silent_p.S544S|UVRAG_ENST00000532130.1_Silent_p.S273S|UVRAG_ENST00000538870.1_Silent_p.S201S|UVRAG_ENST00000539288.1_Silent_p.S273S|UVRAG_ENST00000531818.1_Silent_p.S273S|UVRAG_ENST00000533454.1_Silent_p.S273S	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	645					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.S645S(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTTTCGCCTCAGGTGATCAGC	0.517																																																1	Substitution - coding silent(1)	kidney(1)											81	81	81					11																	75852292		2200	4292	6492	SO:0001819	synonymous_variant	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1935A>T	11.37:g.75852292A>T			B3KTC1|O00392	Silent	SNP	ENST00000356136.3	37	CCDS8241.1																																																																																				0.517	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		T	75852292	A	T	75852292	2	4	412	1	0	0	0	0	0	0	0	1	17113	175	7	5		5	UVRAG	11	75852292	Silent	SNP	A	TCGA-BP-5004-01A-01D-1462-08	4303834	75852292	59154224	29	22611											
DIP2B	57609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51127944	51127944	+	Silent	SNP	T	T	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr12:51127944T>C	ENST00000301180.5	+	33	4042	c.4008T>C	c.(4006-4008)acT>acC	p.T1336T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1336						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.T1336T(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ATCCGACTACTGTGTATGTGG	0.363																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											245	217	227					12																	51127944		2203	4300	6503	SO:0001819	synonymous_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4008T>C	12.37:g.51127944T>C			Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																				0.363	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		C	51127944	T	C	51127944	2	2	412	1	0	0	0	0	0	0	0	1	4530	1567	55	3		3	DIP2B	12	51127944	Silent	SNP	T	TCGA-BP-5004-01A-01D-1462-08		51127944	82723951	30	22612											
UNC119B	84747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121154504	121154504	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr12:121154504C>G	ENST00000344651.4	+	3	472	c.432C>G	c.(430-432)ttC>ttG	p.F144L		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	144					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)	p.F144L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTATCAGTTCACACCGGCAT	0.532																																																1	Substitution - Missense(1)	kidney(1)											276	251	259					12																	121154504		2203	4300	6503	SO:0001583	missense	84747				CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"POC7 centriolar protein homolog B (Chlamydomonas)"		"unc119 (C.elegans) homolog B"				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	ENST00000344651.4:c.432C>G	12.37:g.121154504C>G	ENSP00000344942:p.Phe144Leu			Missense_Mutation	SNP	ENST00000344651.4	37	CCDS31914.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221797	0.79464	.	.	ENSG00000175970	ENST00000344651;ENST00000537794	.	.	.	5.82	5.82	0.92795	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	M	0.84082	2.675	0.80722	D	1	P	0.50369	0.934	P	0.51833	0.681	T	0.75841	-0.3175	9	0.49607	T	0.09	-15.9391	13.3128	0.60390	0.0:0.9281:0.0:0.0719	.	144	A6NIH7	U119B_HUMAN	L	144	.	ENSP00000344942:F144L	F	+	3	2	UNC119B	119638887	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.156000	0.42310	2.752000	0.94435	0.655000	0.94253	TTC		0.532	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533		G	121154504	C	G	121154504	3	3	412	1	0	0	0	0	1	0	0	0	16988	825	29	4	442	4	UNC119B	12	121154504	Missense_Mutation	SNP	C	TCGA-BP-5004-01A-01D-1462-08	70026560	121154504	12697391	31	22613											
FAM70B	348013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	114469231	114469231	+	Splice_Site	SNP	G	G	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr13:114469231G>T	ENST00000375353.3	+	2	216		c.e2+1			NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B							integral component of membrane (GO:0016021)		p.?(1)									AGGGATCATTGTGAGTGCGCC	0.672																																																1	Unknown(1)	kidney(1)											70	63	66					13																	114469231		2203	4300	6503	SO:0001630	splice_region_variant	0			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.189+1G>T	13.37:g.114469231G>T				Splice_Site	SNP	ENST00000375353.3	37	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	.	10.44	1.351539	0.24512	.	.	ENSG00000184497	ENST00000375353	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8064	0.78517	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM70B	113644712	1.000000	0.71417	0.826000	0.32828	0.007000	0.05969	8.119000	0.89579	2.008000	0.58898	0.313000	0.20887	.		0.672	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614	Intron	T	114469231	G	T	114469231	5	4	412	1	0	0	0	0	0	0	1	0	5608	1391	48	4	196	4	FAM70B	13	114469231	Splice_Site	SNP	G	TCGA-BP-5004-01A-01D-1462-08		114469231	700647	32	22614											
RNASE3	6037	hgsc.bcm.edu;ucsc.edu	37	14	21359893	21359893	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr14:21359893delG	ENST00000304639.3	+	2	106	c.48delG	c.(46-48)ttgfs	p.L16fs		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	16					antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TTCTTCTGTTGGGGCTTATGG	0.507																																																0													102	118	113					14																	21359893		2193	4300	6493	SO:0001589	frameshift_variant	6037			X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"Ribonucleases, RNase A"	10046	protein-coding gene	gene with protein product	"eosinophil cationic protein"	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.48delG	14.37:g.21359893delG	ENSP00000302324:p.Leu16fs		Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Frame_Shift_Del	DEL	ENST00000304639.3	37	CCDS9560.1																																																																																				0.507	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		-	21359893	G	-	21359893	7	5	412	1	0	1	0	1	0	0	0	0	13411	1339	47	0	50	0	RNASE3	14	21359893	Frame_Shift_Del	DEL	G	TCGA-BP-5004-01A-01D-1462-08		21359893	85989647	33	22615											
NUMB	8650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	73759584	73759584	+	Splice_Site	SNP	T	T	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr14:73759584T>C	ENST00000355058.3	-	8	588		c.e8-2		NUMB_ENST00000454166.4_Splice_Site|NUMB_ENST00000359560.3_Splice_Site|NUMB_ENST00000555238.1_Splice_Site|NUMB_ENST00000559312.1_Splice_Site|NUMB_ENST00000535282.1_Splice_Site|NUMB_ENST00000544991.3_Splice_Site|NUMB_ENST00000557597.1_Splice_Site|NUMB_ENST00000556772.1_Splice_Site|NUMB_ENST00000555738.2_Splice_Site|NUMB_ENST00000555394.1_Splice_Site|NUMB_ENST00000554546.1_Splice_Site|NUMB_ENST00000560335.1_Splice_Site|NUMB_ENST00000356296.4_Splice_Site|NUMB_ENST00000554521.2_Splice_Site			P49757	NUMB_HUMAN	numb homolog (Drosophila)						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TATGAGGTCCTAGAAAATACG	0.413																																																1	Unknown(1)	kidney(1)											78	75	76					14																	73759584		2203	4300	6503	SO:0001630	splice_region_variant	8650			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.310-2A>G	14.37:g.73759584T>C			B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Splice_Site	SNP	ENST00000355058.3	37	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438088	0.83885	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282;ENST00000326018;ENST00000555859;ENST00000555307;ENST00000554394	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1484	0.81586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUMB	72829337	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.040000	0.89188	2.226000	0.72624	0.459000	0.35465	.		0.413	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1		Intron	C	73759584	T	C	73759584	5	2	412	1	0	0	0	0	0	0	1	0	10753	1536	53	3	1671	3	NUMB	14	73759584	Splice_Site	SNP	T	TCGA-BP-5004-01A-01D-1462-08	52399691	73759584	33589956	34	22616											
TP53BP1	7158	hgsc.bcm.edu;ucsc.edu	37	15	43724668	43724668	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr15:43724668delC	ENST00000263801.3	-	17	3636	c.3384delG	c.(3382-3384)cagfs	p.Q1128fs	TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.Q1133fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.Q1133fs|TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.Q1133fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1128					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTCCTTCTTTCTGGTCTTCTA	0.468								Other conserved DNA damage response genes																																								0													137	127	131					15																	43724668		2201	4298	6499	SO:0001589	frameshift_variant	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3384delG	15.37:g.43724668delC	ENSP00000263801:p.Gln1128fs		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Del	DEL	ENST00000263801.3	37	CCDS10096.1																																																																																				0.468	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			-	43724668	C	-	43724668	7	5	412	1	0	1	0	1	0	0	0	0	16388	912	32	0	2582	0	TP53BP1	15	43724668	Frame_Shift_Del	DEL	C	TCGA-BP-5004-01A-01D-1462-08		43724668	58806724	35	22617											
TLN2	83660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63030474	63030474	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr15:63030474A>T	ENST00000561311.1	+	29	3859	c.3629A>T	c.(3628-3630)gAt>gTt	p.D1210V	TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.D1210V			Q9Y4G6	TLN2_HUMAN	talin 2	1210					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D1210V(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGGCAGAAGGATGTGGACGTG	0.507																																																1	Substitution - Missense(1)	kidney(1)											151	136	141					15																	63030474		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3629A>T	15.37:g.63030474A>T	ENSP00000453508:p.Asp1210Val		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	32	5.178945	0.94846	.	.	ENSG00000171914	ENST00000306829	T	0.71934	-0.61	5.5	5.5	0.81552	.	0.042308	0.85682	D	0.000000	D	0.85120	0.5624	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86936	0.2076	10	0.59425	D	0.04	-17.8953	15.9002	0.79369	1.0:0.0:0.0:0.0	.	1210	Q9Y4G6	TLN2_HUMAN	V	1210	ENSP00000303476:D1210V	ENSP00000303476:D1210V	D	+	2	0	TLN2	60817766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.219000	0.72066	0.533000	0.62120	GAT		0.507	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			T	63030474	A	T	63030474	3	4	412	1	0	0	0	0	1	0	0	0	15953	333	12	5	3735	5	TLN2	15	63030474	Missense_Mutation	SNP	A	TCGA-BP-5004-01A-01D-1462-08	19305806	63030474	39500918	36	22618											
SEPX1	51734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1990864	1990864	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr16:1990864C>G	ENST00000361871.3	-	3	403	c.234G>C	c.(232-234)ttG>ttC	p.L78F	MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000399753.2_Missense_Mutation_p.G200R|MSRB1_ENST00000564908.1_Missense_Mutation_p.G125R	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN	methionine sulfoxide reductase B1	78					actin filament polymerization (GO:0030041)|innate immune response (GO:0045087)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|methionine-R-sulfoxide reductase activity (GO:0070191)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)	p.L78F(1)								L-Methionine(DB00134)	ACTCGTGGCCCAACCCATTGC	0.567																																																1	Substitution - Missense(1)	kidney(1)											45	47	47					16																	1990864		1989	4179	6168	SO:0001583	missense	0			AF166124	CCDS42100.1	16p13.3	2012-05-22	2012-03-01	2012-03-01	ENSG00000198736	ENSG00000198736			14133	protein-coding gene	gene with protein product		606216	"selenoprotein X, 1"	SEPX1		10608886, 20634897	Standard	NM_016332		Approved	SelR, SepR, SelX	uc021tam.1	Q9NZV6	OTTHUMG00000129143	ENST00000361871.3:c.234G>C	16.37:g.1990864C>G	ENSP00000355084:p.Leu78Phe		Q96RX6|Q9BTV2|Q9P0B1	Missense_Mutation	SNP	ENST00000361871.3	37	CCDS42100.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.70|14.70	2.612921|2.612921	0.46631|0.46631	.|.	.|.	ENSG00000198736|ENSG00000198736	ENST00000399753|ENST00000361871	D|D	0.82984|0.86030	-1.67|-2.06	4.61|4.61	2.58|2.58	0.30949|0.30949	.|Mss4-like (1);Methionine sulphoxide reductase B (2);	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.93805|0.93805	0.8019|0.8019	H|H	0.97077|0.97077	3.935|3.935	0.28348|0.28348	N|N	0.921015|0.921015	.|D	.|0.76494	.|0.999	.|D	.|0.71870	.|0.975	D|D	0.86400|0.86400	0.1741|0.1741	8|9	0.87932|0.87932	D|D	0|0	.|.	8.117|8.117	0.30948|0.30948	0.0:0.7476:0.1619:0.0905|0.0:0.7476:0.1619:0.0905	.|.	.|78	.|Q9NZV6	.|MSRB1_HUMAN	R|F	200|78	ENSP00000382657:G200R|ENSP00000355084:L78F	ENSP00000382657:G200R|ENSP00000355084:L78F	G|L	-|-	1|3	0|2	SEPX1|SEPX1	1930865|1930865	0.996000|0.996000	0.38824|0.38824	0.992000|0.992000	0.48379|0.48379	0.878000|0.878000	0.50629|0.50629	0.446000|0.446000	0.21694|0.21694	0.882000|0.882000	0.36016|0.36016	0.650000|0.650000	0.86243|0.86243	GGG|TTG		0.567	MSRB1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000251203.1	NM_016332		G	1990864	C	G	1990864	3	3	412	1	0	0	0	0	1	0	0	0	14079	593	21	4	124	4	SEPX1	16	1990864	Missense_Mutation	SNP	C	TCGA-BP-5004-01A-01D-1462-08		1990864	88363889	37	22619											
ALDOA	226	hgsc.bcm.edu;ucsc.edu	37	16	30078964	30078964	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr16:30078964delC	ENST00000566897.1	+	6	1458	c.306delC	c.(304-306)ggcfs	p.G103fs	ALDOA_ENST00000564595.2_Frame_Shift_Del_p.G157fs|ALDOA_ENST00000395240.3_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000564546.1_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000412304.2_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000563060.2_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000338110.5_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000569798.1_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000395248.1_Frame_Shift_Del_p.G157fs|ALDOA_ENST00000569545.1_Frame_Shift_Del_p.G103fs			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	103					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						AATCCAAGGGCGGTGTTGTGG	0.557																																																0													65	70	68					16																	30078964		2197	4300	6497	SO:0001589	frameshift_variant	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.306delC	16.37:g.30078964delC	ENSP00000455724:p.Gly103fs		B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Frame_Shift_Del	DEL	ENST00000566897.1	37	CCDS10668.1																																																																																				0.557	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		-	30078964	C	-	30078964	7	5	412	1	0	1	0	1	0	0	0	0	507	755	27	0	312	0	ALDOA	16	30078964	Frame_Shift_Del	DEL	C	TCGA-BP-5004-01A-01D-1462-08	28088100	30078964	60275789	38	22620											
PRPF8	10594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1586888	1586888	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr17:1586888T>G	ENST00000572621.1	-	2	473	c.208A>C	c.(208-210)Att>Ctt	p.I70L	PRPF8_ENST00000304992.6_Missense_Mutation_p.I70L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	70					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.I70L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGGTCTCGAATGATCTTCCTG	0.473																																																1	Substitution - Missense(1)	kidney(1)											212	181	191					17																	1586888		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.208A>C	17.37:g.1586888T>G	ENSP00000460348:p.Ile70Leu		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110803	0.77210	.	.	ENSG00000174231	ENST00000304992	T	0.46451	0.87	5.41	4.31	0.51392	Pre-mRNA-processing-splicing factor 8 (2);	0.053046	0.64402	D	0.000001	T	0.36663	0.0975	L	0.43646	1.37	0.80722	D	1	B	0.12013	0.005	B	0.24269	0.052	T	0.11941	-1.0567	10	0.45353	T	0.12	.	11.6091	0.51049	0.1335:0.0:0.0:0.8665	.	70	Q6P2Q9	PRP8_HUMAN	L	70	ENSP00000304350:I70L	ENSP00000304350:I70L	I	-	1	0	PRPF8	1533638	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	7.466000	0.80914	0.846000	0.35142	0.383000	0.25322	ATT		0.473	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			G	1586888	T	G	1586888	3	3	412	1	0	0	0	0	1	0	0	0	12580	1464	51	5	6963	5	PRPF8	17	1586888	Missense_Mutation	SNP	T	TCGA-BP-5004-01A-01D-1462-08		1586888	79608322	39	22621											
C17orf66	256957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34185482	34185482	+	Silent	SNP	G	G	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr17:34185482G>T	ENST00000311880.2	-	10	1135	c.987C>A	c.(985-987)gtC>gtA	p.V329V	C17orf66_ENST00000592980.1_Silent_p.V289V	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		329					hematopoietic progenitor cell differentiation (GO:0002244)			p.V329V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGGCCTTGATGACTGGGGCTG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											125	84	98					17																	34185482		2203	4300	6503	SO:0001819	synonymous_variant	256957																														ENST00000311880.2:c.987C>A	17.37:g.34185482G>T			B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	CCDS11299.1																																																																																				0.572	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			T	34185482	G	T	34185482	2	4	412	1	0	0	0	0	0	0	0	1	1876	1277	45	4		4	C17orf66	17	34185482	Silent	SNP	G	TCGA-BP-5004-01A-01D-1462-08	32598594	34185482	47009728	40	22622											
PPP1R1B	84152	broad.mit.edu	37	17	37785438	37785438	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr17:37785438C>G	ENST00000254079.4	+	2	566	c.97C>G	c.(97-99)Cca>Gca	p.P33A	PPP1R1B_ENST00000394267.2_5'UTR|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.P33A|PPP1R1B_ENST00000394265.1_5'UTR|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.P33A	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	33					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)	p.P33A(1)		kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCGCAGGAGACCAACGCCTGC	0.642																																																1	Substitution - Missense(1)	kidney(1)											52	49	50					17																	37785438		2203	4300	6503	SO:0001583	missense	84152			AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9287	protein-coding gene	gene with protein product	"dopamine and cAMP regulated phosphoprotein"	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.97C>G	17.37:g.37785438C>G	ENSP00000254079:p.Pro33Ala		Q547V9|Q547W0|Q9H7G1	Missense_Mutation	SNP	ENST00000254079.4	37	CCDS11339.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402260	0.42613	.	.	ENSG00000131771	ENST00000254079;ENST00000357165;ENST00000394271	T	0.67523	-0.27	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.80644	0.4662	M	0.71206	2.165	0.51233	D	0.999911	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.82526	-0.0413	10	0.87932	D	0	-20.4407	14.7042	0.69176	0.0:1.0:0.0:0.0	.	33;33;33	B3KVQ9;E7ENN5;Q9UD71	.;.;PPR1B_HUMAN	A	33	ENSP00000254079:P33A	ENSP00000254079:P33A	P	+	1	0	PPP1R1B	35038964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.513000	0.60476	2.533000	0.85409	0.561000	0.74099	CCA		0.642	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		G	37785438	C	G	37785438	3	3	412	1	0	0	0	0	1	0	0	0	12373	507	18	4	103	4	PPP1R1B	17	37785438	Missense_Mutation	SNP	C	TCGA-BP-5004-01A-01D-1462-08	3599956	37785438	43409772	41	22623											
LRRC59	55379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48470252	48470252	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr17:48470252A>T	ENST00000225972.7	-	3	407	c.172T>A	c.(172-174)Ttc>Atc	p.F58I		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	58						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F58I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGCCACAGAAATCCGACTAG	0.502																																																1	Substitution - Missense(1)	kidney(1)											69	65	66					17																	48470252		2203	4300	6503	SO:0001583	missense	55379			AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.172T>A	17.37:g.48470252A>T	ENSP00000225972:p.Phe58Ile		B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	37	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	A	34	5.354055	0.95830	.	.	ENSG00000108829	ENST00000225972	T	0.28069	1.63	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	N	0.05158	-0.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32322	-0.9911	10	0.18710	T	0.47	.	15.8953	0.79329	1.0:0.0:0.0:0.0	.	58	Q96AG4	LRC59_HUMAN	I	58	ENSP00000225972:F58I	ENSP00000225972:F58I	F	-	1	0	LRRC59	45825251	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.258000	0.95555	2.211000	0.71520	0.459000	0.35465	TTC		0.502	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509		T	48470252	A	T	48470252	3	4	412	1	0	0	0	0	1	0	0	0	9017	14	1	5	771	5	LRRC59	17	48470252	Missense_Mutation	SNP	A	TCGA-BP-5004-01A-01D-1462-08	10684814	48470252	32724958	42	22624											
SERPINB4	6318	broad.mit.edu;hgsc.bcm.edu	37	18	61310791	61310791	+	Silent	SNP	G	G	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr18:61310791G>C	ENST00000341074.5	-	2	136	c.21C>G	c.(19-21)gcC>gcG	p.A7A	SERPINB4_ENST00000356424.6_Silent_p.A7A	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	7					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A7A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ACTTGGTGTTGGCTTCACTGA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											238	222	227					18																	61310791		2203	4300	6503	SO:0001819	synonymous_variant	6318			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.21C>G	18.37:g.61310791G>C			A8K847	Silent	SNP	ENST00000341074.5	37	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	3.006	-0.204945	0.06180	.	.	ENSG00000206073	ENST00000413673	.	.	.	3.77	-7.54	0.01332	.	.	.	.	.	T	0.19327	0.0464	.	.	.	0.21822	N	0.999528	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	.	5.0282	0.14396	0.0969:0.2153:0.5002:0.1876	.	.	.	.	R	9	.	.	P	-	2	0	SERPINB4	59461771	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.484000	0.06528	-2.010000	0.00953	-0.360000	0.07572	CCA		0.398	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		C	61310791	G	C	61310791	2	2	412	1	0	0	0	0	0	0	0	1	14109	1335	47	4		4	SERPINB4	18	61310791	Silent	SNP	G	TCGA-BP-5004-01A-01D-1462-08		61310791	16766457	43	22625											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9062883	9062883	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr19:9062883G>A	ENST00000397910.4	-	3	24766	c.24563C>T	c.(24562-24564)aCc>aTc	p.T8188I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8190	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T8188I(2)|p.T3821I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGCTGGAGGTAGGGAGTCT	0.473																																																3	Substitution - Missense(3)	kidney(3)											119	113	115					19																	9062883		2059	4206	6265	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24563C>T	19.37:g.9062883G>A	ENSP00000381008:p.Thr8188Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.496	0.459742	0.12342	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	3.31	-2.94	0.05581	.	.	.	.	.	T	0.02047	0.0064	N	0.24115	0.695	.	.	.	B	0.24823	0.112	B	0.17722	0.019	T	0.41305	-0.9516	8	0.87932	D	0	.	6.1534	0.20324	0.2453:0.5179:0.2368:0.0	.	8188	B5ME49	.	I	8188	ENSP00000381008:T8188I	ENSP00000381008:T8188I	T	-	2	0	MUC16	8923883	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.498000	0.06420	-0.311000	0.08754	0.508000	0.49915	ACC		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9062883	G	A	9062883	3	1	412	1	0	0	0	0	1	0	0	0	9975	1261	44	2	19288	2	MUC16	19	9062883	Missense_Mutation	SNP	G	TCGA-BP-5004-01A-01D-1462-08		9062883	50066100	44	22626											
ZNF492	57615	broad.mit.edu;hgsc.bcm.edu	37	19	22836216	22836216	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr19:22836216C>A	ENST00000456783.2	+	2	259	c.15C>A	c.(13-15)taC>taA	p.Y5*		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	5	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y5*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TAGAGAACTACAGAAACCTGG	0.378																																																1	Substitution - Nonsense(1)	kidney(1)											131	154	146					19																	22836216		2203	4300	6503	SO:0001587	stop_gained	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.15C>A	19.37:g.22836216C>A	ENSP00000413660:p.Tyr5*		Q08EI7|Q08EI8	Nonsense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	15.01	2.705385	0.48412	.	.	ENSG00000229676	ENST00000456783	.	.	.	1.23	-1.48	0.08745	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9139	0.09214	0.0:0.4623:0.0:0.5377	.	.	.	.	X	5	.	ENSP00000413660:Y5X	Y	+	3	2	ZNF492	22628056	0.063000	0.20901	0.052000	0.19188	0.035000	0.12851	-0.109000	0.10840	-0.189000	0.10482	-0.459000	0.05422	TAC		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		A	22836216	C	A	22836216	4	1	412	1	0	0	0	0	0	1	0	0	17948	489	17	4	17	4	ZNF492	19	22836216	Nonsense_Mutation	SNP	C	TCGA-BP-5004-01A-01D-1462-08	13773333	22836216	36292767	45	22627											
LILRA6	79168	broad.mit.edu	37	19	54746128	54746128	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr19:54746128G>C	ENST00000396365.2	-	3	168	c.129C>G	c.(127-129)agC>agG	p.S43R	LILRA6_ENST00000419410.2_Missense_Mutation_p.S43R|LILRB3_ENST00000407860.2_Missense_Mutation_p.S43R|LILRA6_ENST00000440558.2_Missense_Mutation_p.S43R|LILRA6_ENST00000245621.5_Missense_Mutation_p.S43R|LILRA6_ENST00000270464.5_Missense_Mutation_p.S43R|LILRA6_ENST00000391735.3_Missense_Mutation_p.S43R	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	43					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.S43R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGTCACGGGGCTCCCCCAGC	0.602																																																2	Substitution - Missense(2)	kidney(2)											105	112	109					19																	54746128		2203	4300	6503	SO:0001583	missense	11025			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.129C>G	19.37:g.54746128G>C	ENSP00000379651:p.Ser43Arg			Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528820	0.27387	.	.	ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91;2.91;2.91	3.4	-2.67	0.06059	Immunoglobulin-like fold (1);	1.626640	0.02971	N	0.144362	T	0.14960	0.0361	L	0.42686	1.345	0.09310	N	1	P;B;P;B;P;P;B;P;D;D	0.59357	0.862;0.067;0.528;0.146;0.931;0.836;0.087;0.935;0.985;0.985	P;B;P;B;P;B;B;P;P;P	0.56278	0.482;0.055;0.454;0.149;0.658;0.413;0.038;0.795;0.499;0.751	T	0.25328	-1.0135	10	0.23891	T	0.37	.	1.7958	0.03061	0.1134:0.1712:0.3791:0.3364	.	43;43;43;43;43;43;43;43;43;43	C9JFH3;Q6PI73-2;B5MCX0;B5ME96;Q6PI73;F8WCY4;F8WD89;D3YTC4;F8W6G6;O75022-2	.;.;.;.;LIRA6_HUMAN;.;.;.;.;.	R	43	ENSP00000384274:S43R;ENSP00000390120:S43R;ENSP00000270464:S43R;ENSP00000411227:S43R;ENSP00000375615:S43R;ENSP00000379651:S43R;ENSP00000245621:S43R	ENSP00000245621:S43R	S	-	3	2	LILRB3;LILRA6	59437940	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.833000	0.00355	-0.409000	0.07553	-1.207000	0.01640	AGC		0.602	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		C	54746128	G	C	54746128	3	2	412	1	0	0	0	0	1	0	0	0	8791	1194	42	4	1340	4	LILRA6	19	54746128	Missense_Mutation	SNP	G	TCGA-BP-5004-01A-01D-1462-08	31909912	54746128	4382855	46	22628											
EEF1A2	1917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62122020	62122020	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr20:62122020C>T	ENST00000298049.7	-	5	911	c.841G>A	c.(841-843)Gcg>Acg	p.A281T	EEF1A2_ENST00000217182.3_Missense_Mutation_p.A281T			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	281					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.A281T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TTCACTGGCGCAAAGGTCACC	0.637																																																1	Substitution - Missense(1)	kidney(1)											61	56	57					20																	62122020		2197	4287	6484	SO:0001583	missense	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.841G>A	20.37:g.62122020C>T	ENSP00000298049:p.Ala281Thr		B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467345	0.63625	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.64618	-0.11;-0.11	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.060894	0.64402	D	0.000005	D	0.84042	0.5385	H	0.94345	3.525	0.80722	D	1	D;B	0.60160	0.987;0.064	D;B	0.75020	0.985;0.221	D	0.89481	0.3750	10	0.72032	D	0.01	-14.6002	16.0768	0.80974	0.0:1.0:0.0:0.0	.	257;281	Q59GP5;Q05639	.;EF1A2_HUMAN	T	281	ENSP00000298049:A281T;ENSP00000217182:A281T	ENSP00000217182:A281T	A	-	1	0	EEF1A2	61592464	1.000000	0.71417	0.433000	0.26760	0.057000	0.15508	7.626000	0.83164	1.847000	0.53656	0.556000	0.70494	GCG		0.637	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		T	62122020	C	T	62122020	3	4	412	1	0	0	0	0	1	0	0	0	4926	710	25	2	562	2	EEF1A2	20	62122020	Missense_Mutation	SNP	C	TCGA-BP-5004-01A-01D-1462-08		62122020	903500	47	22629											
CHAF1B	8208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37783835	37783835	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr21:37783835A>G	ENST00000314103.5	+	11	1145	c.994A>G	c.(994-996)Acc>Gcc	p.T332A		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	332					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)	p.T332A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TCTGTATGACACCCAGCAGTC	0.522																																																1	Substitution - Missense(1)	kidney(1)											252	219	230					21																	37783835		2203	4300	6503	SO:0001583	missense	8208			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.994A>G	21.37:g.37783835A>G	ENSP00000315700:p.Thr332Ala		Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626842	0.87560	.	.	ENSG00000159259	ENST00000314103	T	0.65178	-0.14	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048019	0.85682	D	0.000000	D	0.83704	0.5312	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86643	0.1893	10	0.42905	T	0.14	-21.6497	15.2762	0.73742	1.0:0.0:0.0:0.0	.	332	Q13112	CAF1B_HUMAN	A	332	ENSP00000315700:T332A	ENSP00000315700:T332A	T	+	1	0	CHAF1B	36705705	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.035000	0.76517	2.007000	0.58848	0.460000	0.39030	ACC		0.522	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		G	37783835	A	G	37783835	3	3	412	1	0	0	0	0	1	0	0	0	3314	159	6	3	1032	3	CHAF1B	21	37783835	Missense_Mutation	SNP	A	TCGA-BP-5004-01A-01D-1462-08		37783835	10346060	48	22630											
GPN1	79635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27851883	27851883	+	5'Flank	SNP	C	C	A			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr2:27851883C>A	ENST00000324364.3	-	0	0				RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000264718.3_De_novo_Start_InFrame|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000515877.1_Intron|CCDC121_ENST00000394775.3_5'Flank|GPN1_ENST00000407583.3_Intron|GPN1_ENST00000424214.1_Intron|GPN1_ENST00000458167.2_Intron|ZNF512_ENST00000556601.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121											breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TTTCTCTACCCATGCGGTGTC	0.647																																																0													31	35	34					2																	27851883		2202	4300	6502	SO:0001631	upstream_gene_variant	11321			AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427		2.37:g.27851883C>A	Exception_encountered		B3KW66|J3KQZ8|Q9H8G6	RNA	SNP	ENST00000324364.3	37	CCDS1759.1																																																																																				0.647	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		A	27851883	C	A	27851883	1	1	413	0	1	0	0	0	0	0	0	0	6619	609	21	4		4	GPN1	2	27851883	5'Flank	SNP	C	TCGA-BP-5006-01A-01D-1462-08		27851883	215347490	1	22631											
FABP1	2168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	88425757	88425757	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr2:88425757G>C	ENST00000295834.3	-	2	276	c.178C>G	c.(178-180)Caa>Gaa	p.Q60E	FABP1_ENST00000393750.3_Missense_Mutation_p.Q60E|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	60					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)	p.Q60E(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						AATTCGTTTTGGATCACTTTG	0.517																																																1	Substitution - Missense(1)	kidney(1)											326	276	293					2																	88425757		2203	4300	6503	SO:0001583	missense	2168			M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"Fatty acid binding protein family"	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.178C>G	2.37:g.88425757G>C	ENSP00000295834:p.Gln60Glu			Missense_Mutation	SNP	ENST00000295834.3	37	CCDS2001.1	.	.	.	.	.	.	.	.	.	.	G	1.443	-0.567064	0.03910	.	.	ENSG00000163586	ENST00000295834;ENST00000393750	T;T	0.13196	2.61;2.61	5.81	1.67	0.24075	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.295960	0.04477	N	0.377066	T	0.07279	0.0184	N	0.04063	-0.285	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.37244	-0.9714	10	0.17832	T	0.49	.	9.3455	0.38107	0.0:0.1466:0.4296:0.4238	.	60;60	A8MW49;P07148	.;FABPL_HUMAN	E	60	ENSP00000295834:Q60E;ENSP00000377351:Q60E	ENSP00000295834:Q60E	Q	-	1	0	FABP1	88206872	0.000000	0.05858	0.141000	0.22245	0.028000	0.11728	-0.544000	0.06077	0.321000	0.23259	-0.269000	0.10298	CAA		0.517	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		C	88425757	G	C	88425757	3	2	413	1	0	0	0	0	1	0	0	0	5357	1357	47	4	217	4	FABP1	2	88425757	Missense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08	60573874	88425757	154773616	2	22632											
C2orf69	205327	hgsc.bcm.edu;ucsc.edu	37	2	200790244	200790244	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr2:200790244delA	ENST00000319974.5	+	2	976	c.793delA	c.(793-795)aaafs	p.K265fs	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	265						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						TGGATTCAGTAAAGGTTGTGT	0.348																																																0													79	80	80					2																	200790244		1849	4092	5941	SO:0001589	frameshift_variant	205327				CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"hypothetical protein FLJ38973"					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.793delA	2.37:g.200790244delA	ENSP00000312770:p.Lys265fs		Q8NE30	Frame_Shift_Del	DEL	ENST00000319974.5	37	CCDS46482.1																																																																																				0.348	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689		-	200790244	A	-	200790244	7	5	413	1	0	1	0	1	0	0	0	0	2190	363	13	0	799	0	C2orf69	2	200790244	Frame_Shift_Del	DEL	A	TCGA-BP-5006-01A-01D-1462-08	112364487	200790244	42409129	3	22633											
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183788	10183788	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr3:10183788C>T	ENST00000256474.2	+	1	1097	c.257C>T	c.(256-258)cCc>cTc	p.P86L	VHL_ENST00000345392.2_Missense_Mutation_p.P86L|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	86			P -> A (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|P -> H (in VHLD).|P -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|P -> R (in VHLD; type I). {ECO:0000269|PubMed:9829911}.|P -> S (in VHLD). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P86L(4)|p.P86H(3)|p.P86fs*72(2)|p.S72_V87>L(1)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V87fs*45(1)|p.V84fs*69(1)|p.P86R(1)|p.L85fs*44(1)|p.V84fs*72(1)|p.V84_P86del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCGTGCTGCCCGTATGGCTC	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	18	Substitution - Missense(8)|Deletion - Frameshift(6)|Complex - deletion inframe(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(17)|soft_tissue(1)	GRCh37	CM951275|CM982001	VHL	M							13	16	15					3																	10183788		2148	4203	6351	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.257C>T	3.37:g.10183788C>T	ENSP00000256474:p.Pro86Leu		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249919	0.95305	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99841	-7.09;-7.09	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	L	0.34521	1.04	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99793	1.1032	10	0.18710	T	0.47	-10.9244	16.8166	0.85735	0.0:1.0:0.0:0.0	.	86;86	P40337-2;P40337	.;VHL_HUMAN	L	86	ENSP00000256474:P86L;ENSP00000344757:P86L	ENSP00000256474:P86L	P	+	2	0	VHL	10158788	0.997000	0.39634	0.957000	0.39632	0.776000	0.43924	4.782000	0.62396	2.558000	0.86282	0.550000	0.68814	CCC		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183788	C	T	10183788	3	4	413	1	0	0	0	0	1	0	0	0	17167	623	22	2	259	2	VHL	3	10183788	Missense_Mutation	SNP	C	TCGA-BP-5006-01A-01D-1462-08		10183788	187838642	4	22634											
SETD2	29072	broad.mit.edu	37	3	47161671	47161671	+	Splice_Site	SNP	C	C	G			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr3:47161671C>G	ENST00000409792.3	-	3	4497		c.e3+1			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.?(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATTAGACTTACCTTTCTGTTA	0.323			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Unknown(2)	kidney(2)											52	53	52					3																	47161671		2203	4298	6501	SO:0001630	splice_region_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4454+1G>C	3.37:g.47161671C>G			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454497	0.84209	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.871	0.92315	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47136675	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.651000	0.83577	2.690000	0.91761	0.563000	0.77884	.		0.323	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Intron	G	47161671	C	G	47161671	5	3	413	1	0	0	0	0	0	0	1	0	14137	521	18	4	3315	4	SETD2	3	47161671	Splice_Site	SNP	C	TCGA-BP-5006-01A-01D-1462-08	36977883	47161671	150860759	5	22635											
SEC61A1	29927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	127785928	127785928	+	Silent	SNP	C	C	T			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr3:127785928C>T	ENST00000243253.3	+	9	1093	c.909C>T	c.(907-909)gtC>gtT	p.V303V	SEC61A1_ENST00000424880.2_Silent_p.V183V|SEC61A1_ENST00000464451.1_Silent_p.V309V|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	303					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)	p.V303V(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						ACCTTTATGTCATCTCCCAAA	0.537																																																1	Substitution - coding silent(1)	kidney(1)											231	185	201					3																	127785928		2203	4300	6503	SO:0001819	synonymous_variant	29927			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.909C>T	3.37:g.127785928C>T			P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	ENST00000243253.3	37	CCDS3046.1																																																																																				0.537	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		T	127785928	C	T	127785928	2	4	413	1	0	0	0	0	0	0	0	1	14006	813	29	2		2	SEC61A1	3	127785928	Silent	SNP	C	TCGA-BP-5006-01A-01D-1462-08	80624257	127785928	70236502	6	22636											
NMNAT3	349565	hgsc.bcm.edu;ucsc.edu	37	3	139279902	139279902	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr3:139279902delT	ENST00000296202.7	-	6	1090	c.709delA	c.(709-711)agtfs	p.S237fs	NMNAT3_ENST00000413939.2_Frame_Shift_Del_p.S148fs|NMNAT3_ENST00000511444.1_3'UTR|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000339837.5_Frame_Shift_Del_p.S200fs|NMNAT3_ENST00000406164.1_Frame_Shift_Del_p.S200fs|NMNAT3_ENST00000406824.1_Frame_Shift_Del_p.S127fs|NMNAT3_ENST00000507242.1_5'Flank|RP11-319G6.1_ENST00000515247.1_RNA			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	237					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TTCCAGGTACTGCCCTTGGTG	0.572																																																0													218	179	192					3																	139279902		2203	4300	6503	SO:0001589	frameshift_variant	349565			AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.709delA	3.37:g.139279902delT	ENSP00000296202:p.Ser237fs		B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Frame_Shift_Del	DEL	ENST00000296202.7	37																																																																																					0.572	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177		-	139279902	T	-	139279902	7	5	413	1	0	1	0	1	0	0	0	0	10502	1580	55	0	53	0	NMNAT3	3	139279902	Frame_Shift_Del	DEL	T	TCGA-BP-5006-01A-01D-1462-08	11493974	139279902	58742528	7	22637											
P2RY14	9934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	150931635	150931635	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr3:150931635A>G	ENST00000309170.3	-	3	782	c.470T>C	c.(469-471)aTt>aCt	p.I157T	P2RY14_ENST00000424796.2_Missense_Mutation_p.I157T|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	157					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)	p.I157T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGAGAATAATATTTGGAAC	0.413																																																1	Substitution - Missense(1)	kidney(1)											133	122	126					3																	150931635		2203	4300	6503	SO:0001583	missense	9934			D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	16442	protein-coding gene	gene with protein product		610116	"G protein-coupled receptor 105"	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.470T>C	3.37:g.150931635A>G	ENSP00000308361:p.Ile157Thr		Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	A	7.678	0.688403	0.14973	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.37235	1.21;1.21	5.9	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.386006	0.26255	N	0.025439	T	0.30696	0.0773	L	0.36672	1.1	0.33045	D	0.532048	B	0.18968	0.032	B	0.20955	0.032	T	0.34378	-0.9831	10	0.72032	D	0.01	-5.3761	13.3185	0.60421	0.6243:0.3757:0.0:0.0	.	157	Q15391	P2Y14_HUMAN	T	157	ENSP00000308361:I157T;ENSP00000408733:I157T	ENSP00000308361:I157T	I	-	2	0	P2RY14	152414325	0.930000	0.31532	0.575000	0.28536	0.121000	0.20230	2.110000	0.41873	0.456000	0.26937	0.528000	0.53228	ATT		0.413	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		G	150931635	A	G	150931635	3	3	413	1	0	0	0	0	1	0	0	0	11353	101	4	3	550	3	P2RY14	3	150931635	Missense_Mutation	SNP	A	TCGA-BP-5006-01A-01D-1462-08	11651733	150931635	47090795	8	22638											
ARHGAP10	79658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	148861016	148861016	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr4:148861016T>A	ENST00000336498.3	+	14	1508	c.1269T>A	c.(1267-1269)agT>agA	p.S423R	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.S72R	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1188					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.S423R(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TGGGGGTGAGTTCAAAGGTCC	0.353																																																1	Substitution - Missense(1)	kidney(1)											246	248	248					4																	148861016		2203	4300	6503	SO:0001583	missense	79658			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1269T>A	4.37:g.148861016T>A	ENSP00000336923:p.Ser423Arg		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	CCDS34075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.195472|4.195472	0.78902|0.78902	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000507661|ENST00000336498;ENST00000414545	.|T;T	.|0.18174	.|2.23;2.23	5.58|5.58	4.4|4.4	0.53042|0.53042	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.076080	.|0.85682	.|D	.|0.000000	T|T	0.35248|0.35248	0.0925|0.0925	L|L	0.55481|0.55481	1.735|1.735	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.76494	.|0.999;0.971	.|D;P	.|0.83275	.|0.996;0.893	T|T	0.05162|0.05162	-1.0902|-1.0902	5|10	.|0.87932	.|D	.|0	.|.	11.2722|11.2722	0.49147|0.49147	0.0:0.0717:0.0:0.9283|0.0:0.0717:0.0:0.9283	.|.	.|72;423	.|E7EUW5;A1A4S6	.|.;RHG10_HUMAN	I|R	101|423;72	.|ENSP00000336923:S423R;ENSP00000406624:S72R	.|ENSP00000336923:S423R	F|S	+|+	1|3	0|2	ARHGAP10|ARHGAP10	149080466|149080466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.845000|3.845000	0.55880|0.55880	0.956000|0.956000	0.37904|0.37904	0.533000|0.533000	0.62120|0.62120	TTC|AGT		0.353	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		A	148861016	T	A	148861016	3	1	413	1	0	0	0	0	1	0	0	0	862	1722	60	5	1323	5	ARHGAP10	4	148861016	Missense_Mutation	SNP	T	TCGA-BP-5006-01A-01D-1462-08		148861016	42293260	9	22639											
GRIA2	2891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	158257620	158257620	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr4:158257620C>G	ENST00000264426.9	+	11	1844	c.1565C>G	c.(1564-1566)tCt>tGt	p.S522C	GRIA2_ENST00000393815.2_Missense_Mutation_p.S475C|GRIA2_ENST00000296526.7_Missense_Mutation_p.S522C|GRIA2_ENST00000449365.1_Missense_Mutation_p.S475C|GRIA2_ENST00000507898.1_Missense_Mutation_p.S475C	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	522					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.S522C(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTCGGGATATCTATCATGATC	0.418																																																2	Substitution - Missense(2)	kidney(2)											202	197	198					4																	158257620		2203	4300	6503	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1565C>G	4.37:g.158257620C>G	ENSP00000264426:p.Ser522Cys		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111810	0.77210	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.46	5.46	0.80206	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.70552	0.3237	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.947;0.999;0.987	T	0.74870	-0.3517	10	0.87932	D	0	.	19.6635	0.95885	0.0:1.0:0.0:0.0	.	522;522;475	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	C	475;475;522;522;475	ENSP00000426845:S475C;ENSP00000377403:S475C;ENSP00000296526:S522C;ENSP00000264426:S522C;ENSP00000389837:S475C	ENSP00000264426:S522C	S	+	2	0	GRIA2	158477070	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.776000	0.85560	2.720000	0.93068	0.655000	0.94253	TCT		0.418	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			G	158257620	C	G	158257620	3	3	413	1	0	0	0	0	1	0	0	0	6770	913	32	4	1607	4	GRIA2	4	158257620	Missense_Mutation	SNP	C	TCGA-BP-5006-01A-01D-1462-08	9396604	158257620	32896656	10	22640											
IL31RA	133396	broad.mit.edu;hgsc.bcm.edu	37	5	55203210	55203210	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr5:55203210T>C	ENST00000447346.2	+	10	1341	c.1276T>C	c.(1276-1278)Tat>Cat	p.Y426H	IL31RA_ENST00000396834.1_Missense_Mutation_p.Y407H|IL31RA_ENST00000490985.1_Missense_Mutation_p.Y284H|IL31RA_ENST00000354961.4_Missense_Mutation_p.Y407H|IL31RA_ENST00000297015.3_Missense_Mutation_p.Y284H|IL31RA_ENST00000359040.5_Missense_Mutation_p.Y426H|IL31RA_ENST00000396836.2_Missense_Mutation_p.Y426H	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	394	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)	p.Y426H(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTCTGGTGCTATAACATCTC	0.423																																																1	Substitution - Missense(1)	kidney(1)											91	85	87					5																	55203210		2203	4300	6503	SO:0001583	missense	133396			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1276T>C	5.37:g.55203210T>C	ENSP00000415900:p.Tyr426His		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	T	22.4	4.286168	0.80803	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.87	5.87	0.94306	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90823	0.7118	M	0.81341	2.54	0.49798	D	0.999829	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	D	0.91793	0.5445	10	0.87932	D	0	-1.7349	12.9575	0.58438	0.0:0.0:0.0:1.0	.	394;426;407;426;426	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	H	426;407;426;426;284;284;407	ENSP00000380048:Y426H;ENSP00000380046:Y407H;ENSP00000415900:Y426H;ENSP00000351935:Y426H;ENSP00000297015:Y284H;ENSP00000427533:Y284H;ENSP00000347047:Y407H	ENSP00000297015:Y284H	Y	+	1	0	IL31RA	55238967	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.284000	0.58983	2.371000	0.80710	0.533000	0.62120	TAT		0.423	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		C	55203210	T	C	55203210	3	2	413	1	0	0	0	0	1	0	0	0	7693	1522	53	3	1314	3	IL31RA	5	55203210	Missense_Mutation	SNP	T	TCGA-BP-5006-01A-01D-1462-08		55203210	125712050	11	22641											
GALNT10	55568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	153796478	153796478	+	Silent	SNP	G	G	A			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr5:153796478G>A	ENST00000297107.6	+	12	1895	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Silent_p.Q524Q|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Silent_p.Q259Q	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	586	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Q586Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCACCCAGCAGTGGCTGTTTG	0.537																																																1	Substitution - coding silent(1)	kidney(1)											149	137	141					5																	153796478		2203	4300	6503	SO:0001819	synonymous_variant	55568			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1758G>A	5.37:g.153796478G>A			B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	CCDS4325.1																																																																																				0.537	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		A	153796478	G	A	153796478	2	1	413	1	0	0	0	0	0	0	0	1	6210	1020	36	2		2	GALNT10	5	153796478	Silent	SNP	G	TCGA-BP-5006-01A-01D-1462-08	98593268	153796478	27118782	12	22642											
AGXT2L2	85007	hgsc.bcm.edu	37	5	177649405	177649406	+	Frame_Shift_Ins	INS	-	-	G	rs147023998		TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr5:177649405_177649406insG	ENST00000308158.5	-	8	1111_1112	c.877_878insC	c.(877-879)cagfs	p.Q293fs	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	293						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CGCCACAGGCTGGGTTGCGGCC	0.594																																																0																																										SO:0001589	frameshift_variant	85007			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.878dupC	5.37:g.177649408_177649408dupG	ENSP00000310978:p.Gln293fs		A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Frame_Shift_Ins	INS	ENST00000308158.5	37	CCDS4434.1																																																																																				0.594	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		G	177649406	-	G	177649405	7	5	413	1	0	1	1	0	0	0	0	0	407	1580	55	0	494	0	AGXT2L2	5	177649405	Frame_Shift_Ins	INS	-	TCGA-BP-5006-01A-01D-1462-08	23852927	177649405	3265855	13	22643											
SYCP2L	221711	broad.mit.edu;ucsc.edu	37	6	10898272	10898272	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr6:10898272G>A	ENST00000283141.6	+	5	661	c.365G>A	c.(364-366)gGa>gAa	p.G122E	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	122						nucleus (GO:0005634)		p.G122E(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGAACAACAGGAATTCTGACC	0.418																																																1	Substitution - Missense(1)	kidney(1)											110	107	108					6																	10898272		1899	4126	6025	SO:0001583	missense	221711			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.365G>A	6.37:g.10898272G>A	ENSP00000283141:p.Gly122Glu		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.237403	0.01493	.	.	ENSG00000153157	ENST00000283141	T	0.14893	2.47	5.36	2.56	0.30785	.	1.347960	0.04580	N	0.394777	T	0.03564	0.0102	L	0.38953	1.18	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.39143	-0.9628	10	0.12766	T	0.61	-1.8107	4.0784	0.09914	0.346:0.0:0.5008:0.1531	.	122	Q5T4T6	SYC2L_HUMAN	E	122	ENSP00000283141:G122E	ENSP00000283141:G122E	G	+	2	0	SYCP2L	11006258	0.000000	0.05858	0.014000	0.15608	0.021000	0.10359	-0.804000	0.04535	0.219000	0.20840	-0.262000	0.10625	GGA		0.418	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		A	10898272	G	A	10898272	3	1	413	1	0	0	0	0	1	0	0	0	15438	1174	41	2	383	2	SYCP2L	6	10898272	Missense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08		10898272	160216795	14	22644											
GTPBP2	54676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43592645	43592645	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr6:43592645A>T	ENST00000307126.5	-	6	859	c.860T>A	c.(859-861)gTc>gAc	p.V287D	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.V199D	NM_019096.3	NP_061969.3			GTP binding protein 2									p.V287D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTTGGCACTGACGAGGAGCAG	0.572																																					GBM(116;405 1620 28302 32150 44768)											1	Substitution - Missense(1)	kidney(1)											164	132	143					6																	43592645		2203	4300	6503	SO:0001583	missense	54676			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.860T>A	6.37:g.43592645A>T	ENSP00000303997:p.Val287Asp			Missense_Mutation	SNP	ENST00000307126.5	37	CCDS4903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.528792|4.528792	0.85706|0.85706	.|.	.|.	ENSG00000172432|ENSG00000172432	ENST00000442748|ENST00000307126;ENST00000307114	.|T;T	.|0.77877	.|-1.13;-1.13	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Protein synthesis factor, GTP-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91222|0.91222	0.7234|0.7234	H|H	0.97587|0.97587	4.035|4.035	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.997	.|D;D	.|0.77004	.|0.989;0.959	D|D	0.94314|0.94314	0.7548|0.7548	5|10	.|0.87932	.|D	.|0	-22.8167|-22.8167	15.4369|15.4369	0.75155|0.75155	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|279;287	.|Q9BX10-4;Q9BX10	.|.;GTPB2_HUMAN	T|D	253|287;199	.|ENSP00000303997:V287D;ENSP00000304893:V199D	.|ENSP00000304893:V199D	S|V	-|-	1|2	0|0	GTPBP2|GTPBP2	43700623|43700623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.518000|7.518000	0.81795|0.81795	2.039000|2.039000	0.60335|0.60335	0.454000|0.454000	0.30748|0.30748	TCA|GTC		0.572	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			T	43592645	A	T	43592645	3	4	413	1	0	0	0	0	1	0	0	0	6882	275	10	5	976	5	GTPBP2	6	43592645	Missense_Mutation	SNP	A	TCGA-BP-5006-01A-01D-1462-08	32694373	43592645	127522422	15	22645											
AIM1	202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	107009363	107009363	+	Silent	SNP	T	T	C			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr6:107009363T>C	ENST00000369066.3	+	18	5389	c.4902T>C	c.(4900-4902)tgT>tgC	p.C1634C	AIM1_ENST00000535438.1_Silent_p.C453C	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.C1634C(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAGAAGGATGTATCAAATGCA	0.453																																																1	Substitution - coding silent(1)	kidney(1)											96	99	98					6																	107009363		2203	4300	6503	SO:0001819	synonymous_variant	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4902T>C	6.37:g.107009363T>C			Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	CCDS34506.1																																																																																				0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			C	107009363	T	C	107009363	2	2	413	1	0	0	0	0	0	0	0	1	430	1644	57	3		3	AIM1	6	107009363	Silent	SNP	T	TCGA-BP-5006-01A-01D-1462-08	63416718	107009363	64105704	16	22646											
TYW1	55253	broad.mit.edu;hgsc.bcm.edu	37	7	66703498	66703498	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr7:66703498G>T	ENST00000359626.5	+	16	2345	c.2181G>T	c.(2179-2181)aaG>aaT	p.K727N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	727					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.K727N(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACAAATCAAAGGCTATTTCTG	0.423																																																1	Substitution - Missense(1)	kidney(1)											60	57	58					7																	66703498		2203	4298	6501	SO:0001583	missense	55253			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.2181G>T	7.37:g.66703498G>T	ENSP00000352645:p.Lys727Asn		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994261	0.54041	.	.	ENSG00000198874	ENST00000359626	T	0.21361	2.01	3.74	1.89	0.25635	.	0.074394	0.52532	U	0.000064	T	0.30696	0.0773	M	0.76727	2.345	0.44652	D	0.997633	P	0.48640	0.913	P	0.50352	0.638	T	0.03784	-1.1004	10	0.72032	D	0.01	.	7.2557	0.26175	0.2273:0.0:0.7727:0.0	.	727	Q9NV66	TYW1_HUMAN	N	727	ENSP00000352645:K727N	ENSP00000352645:K727N	K	+	3	2	TYW1	66340933	1.000000	0.71417	0.203000	0.23512	0.839000	0.47603	2.290000	0.43531	0.259000	0.21709	0.405000	0.27470	AAG		0.423	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		T	66703498	G	T	66703498	3	4	413	1	0	0	0	0	1	0	0	0	16823	991	35	4	2243	4	TYW1	7	66703498	Missense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08		66703498	92435165	17	22647											
WASL	8976	hgsc.bcm.edu	37	7	123332871	123332871	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr7:123332871G>A	ENST00000223023.4	-	9	1209	c.877C>T	c.(877-879)Cct>Tct	p.P293S		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	293	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ttgtgtggagggggaggagga	0.577																																																0													47	52	50					7																	123332871		2197	4293	6490	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.877C>T	7.37:g.123332871G>A	ENSP00000223023:p.Pro293Ser		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245855	0.59103	.	.	ENSG00000106299	ENST00000223023	D	0.96265	-3.96	5.39	5.39	0.77823	Wiscott-Aldrich syndrome, C-terminal (1);	0.053823	0.85682	D	0.000000	D	0.93703	0.7988	N	0.20574	0.59	0.80722	D	1	D	0.55172	0.97	P	0.51895	0.683	D	0.90981	0.4827	10	0.02654	T	1	-1.297	19.209	0.93747	0.0:0.0:1.0:0.0	.	293	O00401	WASL_HUMAN	S	293	ENSP00000223023:P293S	ENSP00000223023:P293S	P	-	1	0	WASL	123120107	1.000000	0.71417	0.932000	0.37286	0.973000	0.67179	8.725000	0.91468	2.528000	0.85240	0.644000	0.83932	CCT		0.577	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		A	123332871	G	A	123332871	3	1	413	1	0	0	0	0	1	0	0	0	17261	1232	43	2	652	2	WASL	7	123332871	Missense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08	56629373	123332871	35805792	18	22648											
KLHDC10	23008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129761893	129761893	+	Splice_Site	SNP	G	G	A			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr7:129761893G>A	ENST00000335420.5	+	5	764		c.e5-1			NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10							cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TTGTTATCCAGGCTATGGCCA	0.393																																																1	Unknown(1)	kidney(1)											98	79	85					7																	129761893		2203	4300	6503	SO:0001630	splice_region_variant	23008				CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"scruin like at the midline homolog (Drosophila)"	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.631-1G>A	7.37:g.129761893G>A			Q86Y99|Q92554	Splice_Site	SNP	ENST00000335420.5	37	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644885	0.67358	.	.	ENSG00000128607	ENST00000335420;ENST00000468226	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3173	0.90225	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHDC10	129549129	1.000000	0.71417	0.998000	0.56505	0.545000	0.35147	9.841000	0.99482	2.553000	0.86117	0.655000	0.94253	.		0.393	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2		Intron	A	129761893	G	A	129761893	5	1	413	1	0	0	0	0	0	0	1	0	8357	1014	35	2	648	2	KLHDC10	7	129761893	Splice_Site	SNP	G	TCGA-BP-5006-01A-01D-1462-08	6429022	129761893	29376770	19	22649											
MFHAS1	9258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	8747924	8747924	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr8:8747924A>G	ENST00000276282.6	-	1	3231	c.2645T>C	c.(2644-2646)aTt>aCt	p.I882T		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	882								p.I882T(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCTATATTCAATCTGCAACTG	0.483																																					Melanoma(103;1201 2045 17515 28966)											1	Substitution - Missense(1)	kidney(1)											70	67	68					8																	8747924		2203	4300	6503	SO:0001583	missense	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2645T>C	8.37:g.8747924A>G	ENSP00000276282:p.Ile882Thr		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637319	0.47049	.	.	ENSG00000147324	ENST00000276282	T	0.46063	0.88	5.04	3.87	0.44632	.	0.062122	0.64402	D	0.000011	T	0.40015	0.1100	L	0.56769	1.78	0.54753	D	0.999984	B	0.18013	0.025	B	0.24394	0.053	T	0.30208	-0.9986	10	0.56958	D	0.05	.	10.6114	0.45423	0.8562:0.0:0.0:0.1437	.	882	Q9Y4C4	MFHA1_HUMAN	T	882	ENSP00000276282:I882T	ENSP00000276282:I882T	I	-	2	0	MFHAS1	8785334	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.870000	0.75526	0.934000	0.37316	0.533000	0.62120	ATT		0.483	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		G	8747924	A	G	8747924	3	3	413	1	0	0	0	0	1	0	0	0	9523	101	4	3	525	3	MFHAS1	8	8747924	Missense_Mutation	SNP	A	TCGA-BP-5006-01A-01D-1462-08		8747924	137616098	20	22650											
CHD7	55636	broad.mit.edu;ucsc.edu	37	8	61768568	61768568	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr8:61768568G>A	ENST00000423902.2	+	33	7450	c.6971G>A	c.(6970-6972)tGt>tAt	p.C2324Y	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2324					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.C2324Y(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GACAACATCTGTGAAGCAGTG	0.433																																																2	Substitution - Missense(2)	kidney(2)											39	38	39					8																	61768568		1860	4103	5963	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6971G>A	8.37:g.61768568G>A	ENSP00000392028:p.Cys2324Tyr		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027672	0.93518	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.90676	-2.71	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	M	0.80332	2.49	0.80722	D	1	P	0.38922	0.651	B	0.43575	0.424	D	0.93302	0.6677	10	0.87932	D	0	-10.5943	20.1013	0.97878	0.0:0.0:1.0:0.0	.	2324	Q9P2D1	CHD7_HUMAN	Y	2324	ENSP00000392028:C2324Y	ENSP00000307304:C2324Y	C	+	2	0	CHD7	61931122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.748000	0.94277	0.655000	0.94253	TGT		0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61768568	G	A	61768568	3	1	413	1	0	0	0	0	1	0	0	0	3332	1377	48	2	7097	2	CHD7	8	61768568	Missense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08	53020644	61768568	84595454	21	22651											
CDK5RAP2	55755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123292386	123292386	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr9:123292386C>G	ENST00000349780.4	-	8	874	c.695G>C	c.(694-696)aGc>aCc	p.S232T	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S232T|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S232T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S232T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	232					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.S232T(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGCTTCTTTGCTCTTCAAAGA	0.413																																																1	Substitution - Missense(1)	kidney(1)											118	106	110					9																	123292386		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.695G>C	9.37:g.123292386C>G	ENSP00000343818:p.Ser232Thr		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227696	0.39399	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.03951	3.87;3.75;3.84;3.75	5.3	3.19	0.36642	.	0.287956	0.29995	N	0.010667	T	0.05960	0.0155	L	0.33485	1.01	0.34313	D	0.685692	D;P;B;P	0.54207	0.965;0.932;0.03;0.941	P;P;B;P	0.50970	0.655;0.655;0.03;0.453	T	0.45056	-0.9287	10	0.22109	T	0.4	.	6.8224	0.23864	0.0:0.6793:0.0:0.3207	.	33;232;232;232	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	T	232;232;232;232;234	ENSP00000354065:S232T;ENSP00000352258:S232T;ENSP00000343818:S232T;ENSP00000353317:S232T	ENSP00000341695:S234T	S	-	2	0	CDK5RAP2	122332207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.872000	0.39549	1.220000	0.43490	0.563000	0.77884	AGC		0.413	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		G	123292386	C	G	123292386	3	3	413	1	0	0	0	0	1	0	0	0	3148	797	28	4	5110	4	CDK5RAP2	9	123292386	Missense_Mutation	SNP	C	TCGA-BP-5006-01A-01D-1462-08		123292386	17921045	22	22652											
PLXDC2	84898	broad.mit.edu;hgsc.bcm.edu	37	10	20465933	20465933	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr10:20465933C>G	ENST00000377252.4	+	8	1730	c.889C>G	c.(889-891)Cga>Gga	p.R297G	PLXDC2_ENST00000377242.3_Missense_Mutation_p.R248G|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	297					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R297G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCTAGATGTTCGAAGAAGAAC	0.323																																																1	Substitution - Missense(1)	kidney(1)											75	78	77					10																	20465933		2203	4300	6503	SO:0001583	missense	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.889C>G	10.37:g.20465933C>G	ENSP00000366460:p.Arg297Gly		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843534	0.71488	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.76448	-1.02;-1.02	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.86736	0.6004	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.968	D	0.85916	0.1443	10	0.48119	T	0.1	.	18.7065	0.91640	0.0:1.0:0.0:0.0	.	248;297	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	G	297;248;160;283	ENSP00000366460:R297G;ENSP00000366450:R248G	ENSP00000366446:R160G	R	+	1	2	PLXDC2	20505939	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	3.420000	0.52735	2.703000	0.92315	0.655000	0.94253	CGA		0.323	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		G	20465933	C	G	20465933	3	3	413	1	0	0	0	0	1	0	0	0	12120	876	31	4	919	4	PLXDC2	10	20465933	Missense_Mutation	SNP	C	TCGA-BP-5006-01A-01D-1462-08		20465933	115068814	23	22653											
H2AFY2	55506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	71868913	71868913	+	Silent	SNP	G	G	A	rs41277966	byFrequency	TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr10:71868913G>A	ENST00000373255.4	+	8	1167	c.903G>A	c.(901-903)gcG>gcA	p.A301A	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	301	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)	p.A301A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TGTCAGCGGCGGAGGACAAGA	0.532													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18732	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	74	68	70		903	-11.9	0.1	10	dbSNP_127	70	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	H2AFY2	NM_018649.2		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		301/373	71868913	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	55506			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"Histones / Replication-independent"	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.903G>A	10.37:g.71868913G>A			Q5SQT2	Silent	SNP	ENST00000373255.4	37	CCDS7296.1																																																																																				0.532	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		A	71868913	G	A	71868913	2	1	413	1	0	0	0	0	0	0	0	1	6932	1103	39	1		1	H2AFY2	10	71868913	Silent	SNP	G	TCGA-BP-5006-01A-01D-1462-08	51402980	71868913	63665834	24	22654											
PCGF6	84108	broad.mit.edu	37	10	105110747	105110747	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr10:105110747G>T	ENST00000369847.3	-	1	144	c.77C>A	c.(76-78)cCg>cAg	p.P26Q	PCGF6_ENST00000337211.4_Missense_Mutation_p.P26Q|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	26	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P26Q(2)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		gacaggaggcggaggcggCAA	0.741																																																2	Substitution - Missense(2)	kidney(2)											6	8	7					10																	105110747		1558	3107	4665	SO:0001583	missense	84108			AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	21156	protein-coding gene	gene with protein product		607816	"ring finger protein 134"	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.77C>A	10.37:g.105110747G>T	ENSP00000358862:p.Pro26Gln		A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	37	CCDS31275.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402044	0.25291	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.33438	1.48;1.41	4.14	4.14	0.48551	.	0.000000	0.45606	D	0.000357	T	0.21062	0.0507	N	0.19112	0.55	0.09310	N	1	B;B	0.19445	0.036;0.021	B;B	0.20184	0.028;0.012	T	0.22417	-1.0217	10	0.72032	D	0.01	.	12.1078	0.53821	0.0:0.0:1.0:0.0	.	26;26	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	Q	26	ENSP00000358862:P26Q;ENSP00000338845:P26Q	ENSP00000338845:P26Q	P	-	2	0	PCGF6	105100737	0.982000	0.34865	0.087000	0.20705	0.033000	0.12548	2.341000	0.43983	2.300000	0.77407	0.491000	0.48974	CCG		0.741	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154		T	105110747	G	T	105110747	3	4	413	1	0	0	0	0	1	0	0	0	11580	1116	39	4	1015	4	PCGF6	10	105110747	Missense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08	33241834	105110747	30424000	25	22655											
DPPA3	359787	broad.mit.edu;hgsc.bcm.edu	37	12	7869602	7869602	+	Missense_Mutation	SNP	G	G	A	rs571145972		TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr12:7869602G>A	ENST00000345088.2	+	4	526	c.409G>A	c.(409-411)Gtg>Atg	p.V137M		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	137					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.V137M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAGTTTCTGCGTGTCTAATGG	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											92	97	95					12																	7869602		2203	4300	6503	SO:0001583	missense	359787			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.409G>A	12.37:g.7869602G>A	ENSP00000339250:p.Val137Met		Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	G	2.024	-0.423942	0.04734	.	.	ENSG00000187569	ENST00000345088	T	0.45276	0.9	2.45	-0.626	0.11544	.	.	.	.	.	T	0.28764	0.0713	N	0.14661	0.345	0.09310	N	1	D	0.63880	0.993	P	0.49683	0.619	T	0.16482	-1.0401	9	0.41790	T	0.15	.	5.7928	0.18369	0.1712:0.5325:0.2963:0.0	.	137	Q6W0C5	DPPA3_HUMAN	M	137	ENSP00000339250:V137M	ENSP00000339250:V137M	V	+	1	0	DPPA3	7760869	0.022000	0.18835	0.000000	0.03702	0.008000	0.06430	-0.121000	0.10643	-0.160000	0.11002	-0.448000	0.05591	GTG		0.378	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		A	7869602	G	A	7869602	3	1	413	1	0	0	0	0	1	0	0	0	4737	1145	40	1	423	1	DPPA3	12	7869602	Missense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08		7869602	125982293	26	22656											
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53662902	53662902	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr12:53662902A>G	ENST00000257934.4	+	3	267	c.176A>G	c.(175-177)cAg>cGg	p.Q59R	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q59R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	59					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.Q59R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTTGCAACCAGCAGCTGACT	0.577																																					Colon(53;1069 1201 2587 5382)											1	Substitution - Missense(1)	kidney(1)											87	81	83					12																	53662902		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.176A>G	12.37:g.53662902A>G	ENSP00000257934:p.Gln59Arg			Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.882674	0.91740	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.14640	2.49;2.49	4.81	4.81	0.61882	.	0.139417	0.49305	D	0.000158	T	0.28995	0.0720	M	0.70595	2.14	0.37850	D	0.929346	D	0.57257	0.979	P	0.54270	0.747	T	0.19679	-1.0298	10	0.72032	D	0.01	.	13.7716	0.63029	1.0:0.0:0.0:0.0	.	59	Q14674	ESPL1_HUMAN	R	59	ENSP00000257934:Q59R;ENSP00000449831:Q59R	ENSP00000257934:Q59R	Q	+	2	0	ESPL1	51949169	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.936000	0.75892	2.147000	0.66899	0.533000	0.62120	CAG		0.577	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		G	53662902	A	G	53662902	3	3	413	1	0	0	0	0	1	0	0	0	5255	188	7	3	182	3	ESPL1	12	53662902	Missense_Mutation	SNP	A	TCGA-BP-5006-01A-01D-1462-08	45793300	53662902	80188993	27	22657											
C12orf64	283310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	80650146	80650146	+	Silent	SNP	A	A	C			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr12:80650146A>C	ENST00000547103.1	+	16	1596	c.1590A>C	c.(1588-1590)atA>atC	p.I530I	OTOGL_ENST00000458043.2_Silent_p.I530I			Q3ZCN5	OTOGL_HUMAN	otogelin-like	530	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.I530I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTCAGTCTATAACTCTGATTC	0.428																																																1	Substitution - coding silent(1)	kidney(1)											88	79	81					12																	80650146		1861	4103	5964	SO:0001819	synonymous_variant	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1590A>C	12.37:g.80650146A>C			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37																																																																																					0.428	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		C	80650146	A	C	80650146	2	2	413	1	0	0	0	0	0	0	0	1	1709	352	13	5		5	C12orf64	12	80650146	Silent	SNP	A	TCGA-BP-5006-01A-01D-1462-08	26987244	80650146	53201749	28	22658											
HSPH1	10808	broad.mit.edu	37	13	31712675	31712675	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr13:31712675C>T	ENST00000320027.5	-	17	2583	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	HSPH1_ENST00000445273.2_Missense_Mutation_p.E749K|HSPH1_ENST00000429785.2_Missense_Mutation_p.E566K|HSPH1_ENST00000380406.5_Missense_Mutation_p.E706K|HSPH1_ENST00000380405.4_Missense_Mutation_p.E703K	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	747					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.E747K(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTTTTCATTTCAGACTCATCA	0.343																																																1	Substitution - Missense(1)	kidney(1)											160	150	154					13																	31712675		2203	4300	6503	SO:0001583	missense	10808			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2239G>A	13.37:g.31712675C>T	ENSP00000318687:p.Glu747Lys		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	36	5.747833	0.96882	.	.	ENSG00000120694	ENST00000435381;ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000380363;ENST00000429785	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	6.08	6.08	0.98989	.	0.065748	0.64402	D	0.000006	T	0.48295	0.1492	M	0.73962	2.25	0.80722	D	1	P;D;P;P;P	0.55172	0.864;0.97;0.864;0.837;0.864	P;P;P;P;P	0.61201	0.597;0.885;0.52;0.642;0.52	T	0.38929	-0.9638	10	0.87932	D	0	-34.4847	20.6721	0.99693	0.0:1.0:0.0:0.0	.	566;706;749;703;747	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	K	11;747;703;706;749;33;566	ENSP00000408991:E11K;ENSP00000318687:E747K;ENSP00000369768:E703K;ENSP00000369769:E706K;ENSP00000396090:E749K;ENSP00000388778:E566K	ENSP00000318687:E747K	E	-	1	0	HSPH1	30610675	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GAA		0.343	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			T	31712675	C	T	31712675	3	4	413	1	0	0	0	0	1	0	0	0	7433	835	29	2	345	2	HSPH1	13	31712675	Missense_Mutation	SNP	C	TCGA-BP-5006-01A-01D-1462-08		31712675	83457203	29	22659											
KIAA0564	23078	hgsc.bcm.edu	37	13	42273315	42273324	+	Frame_Shift_Del	DEL	GTCCACAAAG	GTCCACAAAG	-	rs76787766		TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	GTCCACAAAG	GTCCACAAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr13:42273315_42273324delGTCCACAAAG	ENST00000379310.3	-	29	3515_3524	c.3447_3456delCTTTGTGGAC	c.(3445-3456)ttctttgtggacfs	p.FFVD1149fs		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1149						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D1152Y(1)									TATCAAAAAAGTCCACAAAGAAGCCACTTT	0.433																																																1	Substitution - Missense(1)	endometrium(1)																																								SO:0001589	frameshift_variant	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3447_3456delCTTTGTGGAC	13.37:g.42273315_42273324delGTCCACAAAG	ENSP00000368612:p.Phe1149fs		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Frame_Shift_Del	DEL	ENST00000379310.3	37	CCDS41881.1																																																																																				0.433	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		-	42273324	GTCCACAAAG	-	42273315	7	5	413	1	0	1	0	1	0	0	0	0	8187	1020	36	0	2329	0	KIAA0564	13	42273315	Frame_Shift_Del	DEL	GTCCACAAAG	TCGA-BP-5006-01A-01D-1462-08	10560640	42273315	72896563	30	22660											
FNDC3A	22862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	49776041	49776041	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr13:49776041A>T	ENST00000492622.2	+	24	3398	c.3093A>T	c.(3091-3093)gaA>gaT	p.E1031D	FNDC3A_ENST00000398316.3_Missense_Mutation_p.E975D|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E1031D	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1031	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.E1031D(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGCTGGGGAAGGTCCCCTCT	0.358																																																1	Substitution - Missense(1)	kidney(1)											83	85	84					13																	49776041		2203	4300	6503	SO:0001583	missense	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3093A>T	13.37:g.49776041A>T	ENSP00000417257:p.Glu1031Asp		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.344323	0.61073	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.54675	0.56;0.56;0.56	6.16	3.74	0.42951	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.44891	0.1315	L	0.60957	1.885	0.58432	D	0.999998	P;P	0.40794	0.729;0.592	B;B	0.40134	0.32;0.241	T	0.23762	-1.0179	10	0.15499	T	0.54	-21.3373	8.4645	0.32947	0.7912:0.0:0.2088:0.0	.	975;1031	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	D	1031;967;1031;975	ENSP00000417257:E1031D;ENSP00000441831:E1031D;ENSP00000381362:E975D	ENSP00000338579:E967D	E	+	3	2	FNDC3A	48674042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.537000	0.53590	0.563000	0.29222	-0.297000	0.09499	GAA		0.358	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		T	49776041	A	T	49776041	3	4	413	1	0	0	0	0	1	0	0	0	5971	69	3	5	3194	5	FNDC3A	13	49776041	Missense_Mutation	SNP	A	TCGA-BP-5006-01A-01D-1462-08	7502726	49776041	65393837	31	22661											
NALCN	259232	broad.mit.edu;hgsc.bcm.edu	37	13	101720364	101720364	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr13:101720364G>A	ENST00000251127.6	-	39	4433	c.4352C>T	c.(4351-4353)tCc>tTc	p.S1451F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1451					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S1451F(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATAAAACAAGGAGAAATTCTC	0.318																																																1	Substitution - Missense(1)	kidney(1)											93	91	92					13																	101720364		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4352C>T	13.37:g.101720364G>A	ENSP00000251127:p.Ser1451Phe		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468153	0.84533	.	.	ENSG00000102452	ENST00000251127	D	0.97831	-4.56	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.98378	0.9461	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99505	1.0954	10	0.87932	D	0	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	1451	Q8IZF0	NALCN_HUMAN	F	1451	ENSP00000251127:S1451F	ENSP00000251127:S1451F	S	-	2	0	NALCN	100518365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.788000	0.95919	0.650000	0.86243	TCC		0.318	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	101720364	G	A	101720364	3	1	413	1	0	0	0	0	1	0	0	0	10150	1174	41	2	888	2	NALCN	13	101720364	Missense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08	51944323	101720364	13449514	32	22662											
CDC42BPB	9578	broad.mit.edu	37	14	103418834	103418834	+	Splice_Site	SNP	C	C	A			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr14:103418834C>A	ENST00000361246.2	-	24	3461		c.e24+1			NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACGACACTCACCCTCGCAGGC	0.637																																																1	Unknown(1)	kidney(1)											76	67	70					14																	103418834		2202	4298	6500	SO:0001630	splice_region_variant	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3172+1G>T	14.37:g.103418834C>A				Splice_Site	SNP	ENST00000361246.2	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	30	5.049847	0.93740	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.108	0.97899	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC42BPB	102488587	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.681000	0.84073	2.828000	0.97474	0.655000	0.94253	.		0.637	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	Intron	A	103418834	C	A	103418834	5	1	413	1	0	0	0	0	0	0	1	0	3075	521	18	4	2018	4	CDC42BPB	14	103418834	Splice_Site	SNP	C	TCGA-BP-5006-01A-01D-1462-08		103418834	3930706	33	22663											
SCNN1B	6338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	23359975	23359975	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr16:23359975G>A	ENST00000343070.2	+	2	231	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	SCNN1B_ENST00000307331.5_Missense_Mutation_p.G64S|SCNN1B_ENST00000568085.1_Missense_Mutation_p.G19S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.G19S|SCNN1B_ENST00000569789.1_3'UTR	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	19					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.G19S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GAAGGGCCCCGGCTACACGTA	0.602																																																1	Substitution - Missense(1)	kidney(1)											56	49	51					16																	23359975		2197	4300	6497	SO:0001583	missense	6338			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.55G>A	16.37:g.23359975G>A	ENSP00000345751:p.Gly19Ser		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917948	0.92249	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.69435	-0.36;-0.4	4.91	4.91	0.64330	.	0.159872	0.43416	D	0.000568	T	0.72423	0.3458	N	0.22421	0.69	0.50039	D	0.999846	D	0.89917	1.0	D	0.91635	0.999	T	0.76796	-0.2827	10	0.66056	D	0.02	-11.2674	17.0902	0.86620	0.0:0.0:1.0:0.0	.	19	P51168	SCNNB_HUMAN	S	19;64	ENSP00000345751:G19S;ENSP00000302874:G64S	ENSP00000302874:G64S	G	+	1	0	SCNN1B	23267476	1.000000	0.71417	0.959000	0.39883	0.987000	0.75469	5.507000	0.66999	2.258000	0.74832	0.561000	0.74099	GGC		0.602	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			A	23359975	G	A	23359975	3	1	413	1	0	0	0	0	1	0	0	0	13934	1116	39	1	57	1	SCNN1B	16	23359975	Missense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08		23359975	66994778	34	22664											
FASN	2194	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80039936	80039936	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr17:80039936T>G	ENST00000306749.2	-	36	6330	c.6112A>C	c.(6112-6114)Aat>Cat	p.N2038H	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2038	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N2038H(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	ATGGCGGAATTGGCAAAGCCG	0.647																																					Colon(59;314 1043 11189 28578 32273)											1	Substitution - Missense(1)	kidney(1)											90	89	89					17																	80039936		2202	4298	6500	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6112A>C	17.37:g.80039936T>G	ENSP00000304592:p.Asn2038His		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892760	0.52121	.	.	ENSG00000169710	ENST00000306749	T	0.46451	0.87	4.6	4.6	0.57074	Polyketide synthase/Fatty acid synthase, KR (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.78272	0.4257	H	0.99312	4.51	0.80722	D	1	D	0.64830	0.994	D	0.71414	0.973	D	0.87401	0.2369	10	0.87932	D	0	-48.3797	13.9596	0.64170	0.0:0.0:0.0:1.0	.	2038	P49327	FAS_HUMAN	H	2038	ENSP00000304592:N2038H	ENSP00000304592:N2038H	N	-	1	0	FASN	77633225	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.469000	0.80959	1.707000	0.51288	0.260000	0.18958	AAT		0.647	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		G	80039936	T	G	80039936	3	3	413	1	0	0	0	0	1	0	0	0	5685	1812	63	5	1455	5	FASN	17	80039936	Missense_Mutation	SNP	T	TCGA-BP-5006-01A-01D-1462-08		80039936	1155274	35	22665											
METTL4	64863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	2547514	2547514	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr18:2547514G>C	ENST00000574538.1	-	6	1689	c.914C>G	c.(913-915)tCa>tGa	p.S305*	METTL4_ENST00000319888.6_Nonsense_Mutation_p.S305*	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	305					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.S305*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TTGCAGGGGTGACAAATAACT	0.383																																																1	Substitution - Nonsense(1)	kidney(1)											52	50	51					18																	2547514		2203	4300	6503	SO:0001587	stop_gained	64863				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.914C>G	18.37:g.2547514G>C	ENSP00000458290:p.Ser305*		B2RNA1|Q2TAA7|Q9H5U9	Nonsense_Mutation	SNP	ENST00000574538.1	37	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171650	0.94807	.	.	ENSG00000101574	ENST00000319888	.	.	.	5.57	5.57	0.84162	.	0.060753	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	1.583	19.9024	0.96993	0.0:0.0:1.0:0.0	.	.	.	.	X	305	.	ENSP00000320349:S305X	S	-	2	0	METTL4	2537514	1.000000	0.71417	0.985000	0.45067	0.919000	0.55068	6.911000	0.75746	2.775000	0.95449	0.650000	0.86243	TCA		0.383	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		C	2547514	G	C	2547514	4	2	413	1	0	0	0	0	0	1	0	0	9504	1294	45	4	520	4	METTL4	18	2547514	Nonsense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08		2547514	75529734	36	22666											
UNC13A	23025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17760372	17760372	+	Silent	SNP	G	G	A	rs551065041		TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr19:17760372G>A	ENST00000519716.2	-	13	1463	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	UNC13A_ENST00000551649.1_Silent_p.I488I|UNC13A_ENST00000550896.1_Silent_p.I488I|UNC13A_ENST00000252773.7_Silent_p.I488I|UNC13A_ENST00000552293.1_Silent_p.I488I|UNC13A_ENST00000428389.2_Silent_p.I576I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	488					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.I488I(1)|p.I576I(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCATGCTGTCGATGATGATGA	0.567																																																2	Substitution - coding silent(2)	kidney(2)											147	152	150					19																	17760372		2107	4228	6335	SO:0001819	synonymous_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1464C>T	19.37:g.17760372G>A			E5RHY9	Silent	SNP	ENST00000519716.2	37	CCDS46013.2																																																																																				0.567	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		A	17760372	G	A	17760372	2	1	413	1	0	0	0	0	0	0	0	1	16989	1048	37	1		1	UNC13A	19	17760372	Silent	SNP	G	TCGA-BP-5006-01A-01D-1462-08		17760372	41368611	37	22667											
RINL	126432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39360226	39360226	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr19:39360226C>G	ENST00000591812.1	-	10	1547	c.1461G>C	c.(1459-1461)gaG>gaC	p.E487D	CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Missense_Mutation_p.E373D|RINL_ENST00000340740.3_Missense_Mutation_p.E373D|RINL_ENST00000602238.1_5'Flank			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	487	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E373D(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						CTCCCCGCAGCTCATCTGGAT	0.627											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											53	59	57					19																	39360226		2203	4300	6503	SO:0001583	missense	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1461G>C	19.37:g.39360226C>G	ENSP00000467107:p.Glu487Asp	885	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887887	0.52014	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.29655	1.56	5.27	0.784	0.18578	Vacuolar sorting protein 9 (2);	0.058285	0.64402	D	0.000002	T	0.38585	0.1046	L	0.47716	1.5	0.27208	N	0.959993	D;D	0.71674	0.998;0.995	D;D	0.79108	0.992;0.949	T	0.20438	-1.0275	10	0.21540	T	0.41	-31.0686	6.8674	0.24100	0.0:0.6261:0.0:0.3739	.	487;373	B4DPG5;Q6ZS11	.;RINL_HUMAN	D	373	ENSP00000340369:E373D	ENSP00000340369:E373D	E	-	3	2	RINL	44052066	0.991000	0.36638	0.846000	0.33378	0.800000	0.45204	0.313000	0.19415	0.320000	0.23234	0.462000	0.41574	GAG		0.627	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		G	39360226	C	G	39360226	3	3	413	1	0	0	0	0	1	0	0	0	13381	796	28	4	251	4	RINL	19	39360226	Missense_Mutation	SNP	C	TCGA-BP-5006-01A-01D-1462-08	21599854	39360226	19768757	38	22668											
ZNF428	126299	broad.mit.edu	37	19	44112165	44112165	+	Missense_Mutation	SNP	G	G	T	rs151333697		TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr19:44112165G>T	ENST00000300811.3	-	3	617	c.171C>A	c.(169-171)gaC>gaA	p.D57E	SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	57	Glu-rich.						metal ion binding (GO:0046872)	p.D57E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				ATTCAGGATCGTCAGTGGTct	0.637																																																1	Substitution - Missense(1)	kidney(1)											28	20	23					19																	44112165		2169	4256	6425	SO:0001583	missense	126299			AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"Zinc fingers, C2H2-type"	20804	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 37"	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.171C>A	19.37:g.44112165G>T	ENSP00000300811:p.Asp57Glu		O95054|Q6X3Y3	Missense_Mutation	SNP	ENST00000300811.3	37	CCDS12626.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780521	0.70222	.	.	ENSG00000131116	ENST00000300811;ENST00000391964	.	.	.	4.77	-1.52	0.08637	.	0.000000	0.50627	D	0.000101	T	0.41949	0.1181	N	0.19112	0.55	0.27300	N	0.957598	D	0.61080	0.989	D	0.74674	0.984	T	0.42103	-0.9471	9	0.87932	D	0	0.8071	9.2458	0.37525	0.4979:0.0:0.5021:0.0	.	57	Q96B54	ZN428_HUMAN	E	57	.	ENSP00000300811:D57E	D	-	3	2	ZNF428	48804005	0.630000	0.27155	0.947000	0.38551	0.930000	0.56654	-0.635000	0.05471	-0.522000	0.06417	-0.440000	0.05779	GAC		0.637	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463349.1	NM_182498		T	44112165	G	T	44112165	3	4	413	1	0	0	0	0	1	0	0	0	17906	1136	40	4	399	4	ZNF428	19	44112165	Missense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08	4751939	44112165	15016818	39	22669											
C20orf185	359710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31657707	31657707	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chr20:31657707G>A	ENST00000375494.3	+	11	1163	c.1163G>A	c.(1162-1164)cGt>cAt	p.R388H		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	388					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.R388H(1)									ATGACTGTGCGTGCCCAGCTG	0.577																																																1	Substitution - Missense(1)	kidney(1)											251	226	234					20																	31657707		2203	4300	6503	SO:0001583	missense	0			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1163G>A	20.37:g.31657707G>A	ENSP00000364643:p.Arg388His		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	7.398	0.632221	0.14322	.	.	ENSG00000186190	ENST00000375494	T	0.06933	3.24	4.34	2.07	0.26955	.	0.456780	0.20154	N	0.098085	T	0.04770	0.0129	N	0.22421	0.69	0.20975	N	0.999811	P	0.36438	0.553	B	0.33392	0.163	T	0.35649	-0.9780	10	0.44086	T	0.13	-1.5609	4.9289	0.13907	0.7064:0.0:0.2936:0.0	.	388	P59826	BPIB3_HUMAN	H	388	ENSP00000364643:R388H	ENSP00000364643:R388H	R	+	2	0	BPIFB3	31121368	0.805000	0.28982	0.589000	0.28718	0.006000	0.05464	0.840000	0.27600	0.318000	0.23185	0.591000	0.81541	CGT		0.577	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		A	31657707	G	A	31657707	3	1	413	1	0	0	0	0	1	0	0	0	2099	1145	40	1	1205	1	C20orf185	20	31657707	Missense_Mutation	SNP	G	TCGA-BP-5006-01A-01D-1462-08		31657707	31367813	40	22670											
SPIN3	169981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	57020792	57020794	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chrX:57020792_57020794delGAG	ENST00000374919.3	-	2	909_911	c.587_589delCTC	c.(586-591)cctctg>ctg	p.P196del		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	196					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CTCTCTGCCAGAGGAGAATCATT	0.448																																																0																																										SO:0001651	inframe_deletion	169981			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.587_589delCTC	X.37:g.57020795_57020797delGAG	ENSP00000364054:p.Pro196del		B2RUW3|B7Z8W2|Q8N5D9	In_Frame_Del	DEL	ENST00000374919.3	37	CCDS43963.1																																																																																				0.448	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		-	57020794	GAG	-	57020792	7	5	413	1	0	1	0	1	0	0	0	0	15060	933	33	0	191	0	SPIN3	23	57020792	In_Frame_Del	DEL	GAG	TCGA-BP-5006-01A-01D-1462-08		57020792	98249768	41	22671											
GPR112	139378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135441605	135441605	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chrX:135441605delA	ENST00000394143.1	+	11	7426	c.7135delA	c.(7135-7137)aaafs	p.K2380fs	GPR112_ENST00000370652.1_Frame_Shift_Del_p.K2380fs|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Frame_Shift_Del_p.K2175fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.K2175fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2380					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CGTTGCAGTGAAAAAACTAGG	0.333																																																0													84	74	78					X																	135441605		2203	4300	6503	SO:0001589	frameshift_variant	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7135delA	X.37:g.135441605delA	ENSP00000377699:p.Lys2380fs		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Del	DEL	ENST00000394143.1	37	CCDS35409.1																																																																																				0.333	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			-	135441605	A	-	135441605	7	5	413	1	0	1	0	1	0	0	0	0	6631	247	9	0	7165	0	GPR112	23	135441605	Frame_Shift_Del	DEL	A	TCGA-BP-5006-01A-01D-1462-08	78420813	135441605	19828955	42	22672											
FLNA	2316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153594983	153594983	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5006-01A-01D-1462-08	TCGA-BP-5006-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	11fb962b-b4b8-46f4-bde4-3f87309e94f3	bab0bd83-abc3-4e81-a927-e65cf576777d	g.chrX:153594983T>G	ENST00000369850.3	-	7	1248	c.1012A>C	c.(1012-1014)Aag>Cag	p.K338Q	FLNA_ENST00000344736.4_Missense_Mutation_p.K338Q|FLNA_ENST00000422373.1_Missense_Mutation_p.K338Q|FLNA_ENST00000360319.4_Missense_Mutation_p.K338Q	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	338					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.K338Q(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGCGGTTCTTGTCGTTATTG	0.622																																																1	Substitution - Missense(1)	kidney(1)											104	112	109					X																	153594983		2044	4156	6200	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1012A>C	X.37:g.153594983T>G	ENSP00000358866:p.Lys338Gln		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.392830	0.25118	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	5.01	5.01	0.66863	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90601	0.7053	M	0.71036	2.16	0.80722	D	1	D;B	0.59357	0.985;0.319	D;P	0.63957	0.92;0.457	D	0.91621	0.5311	10	0.87932	D	0	.	13.5606	0.61786	0.0:0.0:0.0:1.0	.	338;338	P21333-2;P21333	.;FLNA_HUMAN	Q	338;311;338;338;338	ENSP00000353467:K338Q;ENSP00000416926:K338Q;ENSP00000358866:K338Q;ENSP00000358863:K338Q	ENSP00000358863:K338Q	K	-	1	0	FLNA	153248177	1.000000	0.71417	0.998000	0.56505	0.129000	0.20672	7.855000	0.86950	1.661000	0.50771	0.427000	0.28365	AAG		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			G	153594983	T	G	153594983	3	3	413	1	0	0	0	0	1	0	0	0	5935	1821	63	5	7099	5	FLNA	23	153594983	Missense_Mutation	SNP	T	TCGA-BP-5006-01A-01D-1462-08	18153378	153594983	1675577	43	22673											
VHL	7428	hgsc.bcm.edu	37	3	10183809	10183809	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5007-01A-01D-1392-10	TCGA-BP-5007-11A-01D-1392-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	1e0b2622-e2ea-4abe-a70c-a248b11fd937	3c7e187c-b62f-430d-9f0c-f16b2b73186a	g.chr3:10183809G>T	ENST00000256474.2	+	1	1118	c.278G>T	c.(277-279)gGc>gTc	p.G93V	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.G93V	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	93			G -> C (in pheochromocytoma and VHLD; type II; dbSNP:rs5030808). {ECO:0000269|PubMed:12000816, ECO:0000269|Ref.41}.|G -> D (in VHLD).|G -> S (in pheochromocytoma and VHLD; type II; dbSNP:rs5030808). {ECO:0000269|PubMed:12000816}.|Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G93fs*66(1)|p.F91fs*64(1)|p.R60fs*35(1)|p.V84_E94>E(1)|p.D92fs*38(1)|p.D92fs*65(1)|p.N90fs*38(1)|p.F91_E94del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AACTTCGACGGCGAGCCGCAG	0.711		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Deletion - Frameshift(5)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	kidney(8)	GRCh37	CD941807|CM951279	VHL	D|M							12	14	14					3																	10183809		1979	3983	5962	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.278G>T	3.37:g.10183809G>T	ENSP00000256474:p.Gly93Val		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193602	0.94960	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99856	-7.21;-7.21	5.16	5.16	0.70880	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.051570	0.85682	D	0.000000	D	0.99849	0.9930	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96457	0.9338	10	0.87932	D	0	-7.9664	16.2277	0.82311	0.0:0.0:1.0:0.0	.	93;93	P40337-2;P40337	.;VHL_HUMAN	V	93	ENSP00000256474:G93V;ENSP00000344757:G93V	ENSP00000256474:G93V	G	+	2	0	VHL	10158809	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.404000	0.66344	2.416000	0.81992	0.550000	0.68814	GGC		0.711	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183809	G	T	10183809	3	4	414	1	0	0	0	0	1	0	0	0	17167	1203	42	4	280	4	VHL	3	10183809	Missense_Mutation	SNP	G	TCGA-BP-5007-01A-01D-1392-10		10183809	187838621	1	22674											
MTOR	2475	broad.mit.edu	37	1	11217230	11217230	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr1:11217230C>A	ENST00000361445.4	-	30	4524	c.4448G>T	c.(4447-4449)tGc>tTc	p.C1483F		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1483	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.C1483F(2)|p.C1483Y(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGCCTCGAGGCAGCGCATGCG	0.527																																																3	Substitution - Missense(3)	kidney(3)											191	177	182					1																	11217230		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4448G>T	1.37:g.11217230C>A	ENSP00000354558:p.Cys1483Phe		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600766	0.87055	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.69806	-0.43	5.32	5.32	0.75619	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82047	0.4952	M	0.91920	3.255	0.80722	D	1	D	0.59357	0.985	P	0.52627	0.704	D	0.86849	0.2022	10	0.87932	D	0	-11.9694	19.0009	0.92834	0.0:1.0:0.0:0.0	.	1483	P42345	MTOR_HUMAN	F	1483	ENSP00000354558:C1483F	ENSP00000354558:C1483F	C	-	2	0	MTOR	11139817	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.414000	0.80117	2.486000	0.83907	0.655000	0.94253	TGC		0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		A	11217230	C	A	11217230	3	1	415	1	0	0	0	0	1	0	0	0	9956	710	25	4	3317	4	MTOR	1	11217230	Missense_Mutation	SNP	C	TCGA-BP-5007-01A-01D-1462-08		11217230	238033391	1	22675											
GPN2	63906	broad.mit.edu;hgsc.bcm.edu	37	1	27216524	27216524	+	IGR	SNP	T	T	C			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr1:27216524T>C	ENST00000361720.5	-	0	2123				GPN2_ENST00000374135.4_Missense_Mutation_p.K22E|GPN2_ENST00000461282.1_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)	p.K22E(1)		endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TACGTGGTCTTCCCTGAGCCC	0.731																																																1	Substitution - Missense(1)	kidney(1)											11	13	12					1																	27216524		2170	4269	6439	SO:0001628	intergenic_variant	54707			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27216524T>C			Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	CCDS290.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.807764	0.90623	.	.	ENSG00000142751	ENST00000374135;ENST00000374131;ENST00000431781	T	0.81163	-1.46	4.8	4.8	0.61643	.	0.102660	0.64402	D	0.000004	D	0.93530	0.7935	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95606	0.8667	10	0.66056	D	0.02	-20.9288	14.1803	0.65568	0.0:0.0:0.0:1.0	.	22	Q9H9Y4	GPN2_HUMAN	E	22	ENSP00000363250:K22E	ENSP00000363246:K22E	K	-	1	0	GPN2	27089111	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.778000	0.85637	2.018000	0.59344	0.533000	0.62120	AAG		0.731	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		C	27216524	T	C	27216524	1	2	415	0	1	0	0	0	0	0	0	0	6620	1792	62	3		3	GPN2	1	27216524	IGR	SNP	T	TCGA-BP-5007-01A-01D-1462-08	15999294	27216524	222034097	2	22676											
MYSM1	114803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	59125681	59125681	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr1:59125681T>A	ENST00000472487.1	-	20	2514	c.2475A>T	c.(2473-2475)gaA>gaT	p.E825D	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	825			E -> K (in dbSNP:rs232777).		chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E825D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACATTAACAATTCCTTTGTAC	0.299																																																1	Substitution - Missense(1)	kidney(1)											78	76	76					1																	59125681		1805	4073	5878	SO:0001583	missense	114803			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2475A>T	1.37:g.59125681T>A	ENSP00000418734:p.Glu825Asp		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845827	0.51164	.	.	ENSG00000162601	ENST00000472487	T	0.26223	1.75	5.46	3.11	0.35812	.	0.862293	0.10295	N	0.691878	T	0.21674	0.0522	L	0.44542	1.39	0.09310	N	1	P	0.37781	0.608	B	0.32980	0.156	T	0.13019	-1.0525	10	0.66056	D	0.02	-8.4071	9.6639	0.39972	0.0:0.1612:0.0:0.8388	.	825	Q5VVJ2	MYSM1_HUMAN	D	825	ENSP00000418734:E825D	ENSP00000418734:E825D	E	-	3	2	MYSM1	58898269	0.005000	0.15991	0.588000	0.28705	0.989000	0.77384	-0.042000	0.12063	1.078000	0.41014	0.482000	0.46254	GAA		0.299	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		A	59125681	T	A	59125681	3	1	415	1	0	0	0	0	1	0	0	0	10103	1490	52	5	15	5	MYSM1	1	59125681	Missense_Mutation	SNP	T	TCGA-BP-5007-01A-01D-1462-08	31909157	59125681	190124940	3	22677											
SUPT7L	9913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27880496	27880497	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr2:27880496_27880497delAG	ENST00000337768.5	-	4	1028_1029	c.459_460delCT	c.(457-462)tcctgtfs	p.C154fs	SUPT7L_ENST00000464789.2_Frame_Shift_Del_p.C152fs|SUPT7L_ENST00000405491.1_Frame_Shift_Del_p.C152fs|SUPT7L_ENST00000406540.1_Frame_Shift_Del_p.C152fs|SUPT7L_ENST00000404798.2_Frame_Shift_Del_p.C19fs	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	154					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					AGCTGCCGACAGGAGTGCCAGC	0.55																																																0																																										SO:0001589	frameshift_variant	9913			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.459_460delCT	2.37:g.27880496_27880497delAG	ENSP00000336750:p.Cys154fs		B4E3W3|Q6IB21|Q9H2T6	Frame_Shift_Del	DEL	ENST00000337768.5	37	CCDS42667.1																																																																																				0.55	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		-	27880497	AG	-	27880496	7	5	415	1	0	1	0	1	0	0	0	0	15406	188	7	0	796	0	SUPT7L	2	27880496	Frame_Shift_Del	DEL	AG	TCGA-BP-5007-01A-01D-1462-08		27880496	215318877	4	22678											
HAPLN1	1404	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	82948369	82948369	+	Silent	SNP	G	G	T			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr5:82948369G>T	ENST00000274341.4	-	3	1225	c.375C>A	c.(373-375)gtC>gtA	p.V125V	HAPLN1_ENST00000514416.1_Silent_p.V125V	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	125	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.V125V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GGTCTGTGATGACCAGAGAAG	0.433																																																1	Substitution - coding silent(1)	kidney(1)											157	151	153					5																	82948369		2203	4300	6503	SO:0001819	synonymous_variant	1404				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.375C>A	5.37:g.82948369G>T			B2R9A9	Silent	SNP	ENST00000274341.4	37	CCDS4061.1																																																																																				0.433	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		T	82948369	G	T	82948369	2	4	415	1	0	0	0	0	0	0	0	1	6956	1277	45	4		4	HAPLN1	5	82948369	Silent	SNP	G	TCGA-BP-5007-01A-01D-1462-08		82948369	97966891	5	22679											
SLC17A4	10050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	25770630	25770630	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr6:25770630C>G	ENST00000377905.4	+	5	669	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	184					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.Q184E(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATTAACTGGTCAGTATTCAAT	0.438																																																1	Substitution - Missense(1)	kidney(1)											142	152	149					6																	25770630		2203	4300	6503	SO:0001583	missense	10050			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.550C>G	6.37:g.25770630C>G	ENSP00000367137:p.Gln184Glu		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723121	0.48728	.	.	ENSG00000146039	ENST00000377905	T	0.57436	0.4	5.37	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.417225	0.20553	N	0.090079	T	0.31544	0.0800	M	0.75085	2.285	0.21064	N	0.999794	B	0.15473	0.013	B	0.21151	0.033	T	0.22765	-1.0207	10	0.23891	T	0.37	.	10.0524	0.42223	0.0:0.8973:0.0:0.1027	.	184	Q9Y2C5	S17A4_HUMAN	E	184	ENSP00000367137:Q184E	ENSP00000367137:Q184E	Q	+	1	0	SLC17A4	25878609	0.003000	0.15002	0.497000	0.27552	0.736000	0.42039	0.845000	0.27668	1.248000	0.43934	0.563000	0.77884	CAG		0.438	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			G	25770630	C	G	25770630	3	3	415	1	0	0	0	0	1	0	0	0	14425	827	29	4	564	4	SLC17A4	6	25770630	Missense_Mutation	SNP	C	TCGA-BP-5007-01A-01D-1462-08		25770630	145344437	6	22680											
ZSCAN16	80345	hgsc.bcm.edu;ucsc.edu	37	6	28093441	28093441	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr6:28093441delT	ENST00000340487.4	+	2	369	c.220delT	c.(220-222)tgcfs	p.C74fs	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GAGGCCAGAATGCCACACCAA	0.542																																																0													142	135	137					6																	28093441		2203	4300	6503	SO:0001589	frameshift_variant	80345			AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"-", "Zinc fingers, C2H2-type"	20813	protein-coding gene	gene with protein product			"zinc finger protein 392", "zinc finger protein 435"	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.220delT	6.37:g.28093441delT	ENSP00000366527:p.Cys74fs		Q9H6K2	Frame_Shift_Del	DEL	ENST00000340487.4	37	CCDS4644.1																																																																																				0.542	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		-	28093441	T	-	28093441	7	5	415	1	0	1	0	1	0	0	0	0	18234	1464	51	0	222	0	ZSCAN16	6	28093441	Frame_Shift_Del	DEL	T	TCGA-BP-5007-01A-01D-1462-08	2322811	28093441	143021626	7	22681											
AKR1B15	441282	broad.mit.edu;hgsc.bcm.edu	37	7	134254201	134254201	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr7:134254201A>C	ENST00000457545.2	+	5	615	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q	AKR1B15_ENST00000423958.1_Missense_Mutation_p.K91Q	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	119							oxidoreductase activity (GO:0016491)	p.K91Q(1)|p.K97Q(1)|p.K119Q(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CCTTGTGAGGAAAGCCTTTGA	0.473																																																3	Substitution - Missense(3)	kidney(3)											135	127	129					7																	134254201		2203	4300	6503	SO:0001583	missense	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.355A>C	7.37:g.134254201A>C	ENSP00000389289:p.Lys119Gln		C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	9.268	1.044995	0.19748	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.26067	1.76;1.76	2.72	-5.44	0.02624	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.15132	0.0365	L	0.33189	0.99	0.09310	N	1	B;B;B	0.21821	0.001;0.009;0.061	B;B;B	0.22152	0.002;0.006;0.038	T	0.34775	-0.9815	9	0.52906	T	0.07	.	4.6982	0.12815	0.4363:0.0:0.4189:0.1448	.	91;119;97	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	Q	119;91	ENSP00000389289:K119Q;ENSP00000397009:K91Q	ENSP00000397009:K91Q	K	+	1	0	AKR1B15	133904741	0.084000	0.21492	0.000000	0.03702	0.023000	0.10783	0.214000	0.17541	-0.765000	0.04645	-0.540000	0.04249	AAA		0.473	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			C	134254201	A	C	134254201	3	2	415	1	0	0	0	0	1	0	0	0	468	247	9	5	365	5	AKR1B15	7	134254201	Missense_Mutation	SNP	A	TCGA-BP-5007-01A-01D-1462-08		134254201	24884462	8	22682											
DOLPP1	57171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131851258	131851258	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr9:131851258A>C	ENST00000372546.4	+	8	721	c.689A>C	c.(688-690)cAa>cCa	p.Q230P	DOLPP1_ENST00000406974.3_Missense_Mutation_p.Q187P|DOLPP1_ENST00000540102.1_Missense_Mutation_p.Q89P	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	230					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)	p.Q230P(1)		endometrium(3)|kidney(2)|lung(7)|skin(1)	13						AGGAACAGACAACGCAAGCTG	0.582																																																1	Substitution - Missense(1)	kidney(1)											142	104	117					9																	131851258		2203	4300	6503	SO:0001583	missense	57171			BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"linked to Surfeit genes in Fugu rubripes 2"	614516	"dolichyl pyrophosphate phosphatase 1"			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.689A>C	9.37:g.131851258A>C	ENSP00000361625:p.Gln230Pro		A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Missense_Mutation	SNP	ENST00000372546.4	37	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.964159	0.53507	.	.	ENSG00000167130	ENST00000372546;ENST00000406974;ENST00000540102	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	L	0.40543	1.245	0.80722	D	1	P;D	0.53151	0.949;0.958	B;P	0.45232	0.368;0.474	T	0.46428	-0.9192	9	0.37606	T	0.19	-15.6381	14.5546	0.68091	1.0:0.0:0.0:0.0	.	187;230	B0QZG4;Q86YN1	.;DOPP1_HUMAN	P	230;187;89	.	ENSP00000361625:Q230P	Q	+	2	0	DOLPP1	130891079	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	8.894000	0.92506	2.117000	0.64856	0.459000	0.35465	CAA		0.582	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438		C	131851258	A	C	131851258	3	2	415	1	0	0	0	0	1	0	0	0	4706	130	5	5	719	5	DOLPP1	9	131851258	Missense_Mutation	SNP	A	TCGA-BP-5007-01A-01D-1462-08		131851258	9362173	9	22683											
DDX31	64794	hgsc.bcm.edu	37	9	135545604	135545607	+	Frame_Shift_Del	DEL	TGAA	TGAA	-			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	TGAA	TGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr9:135545604_135545607delTGAA	ENST00000372159.3	-	1	181_184	c.30_33delTTCA	c.(28-33)cattcafs	p.HS10fs	GTF3C4_ENST00000483873.2_5'UTR|DDX31_ENST00000372153.1_Frame_Shift_Del_p.HS10fs|GTF3C4_ENST00000372146.4_5'UTR|DDX31_ENST00000310532.2_Frame_Shift_Del_p.HS10fs|DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000480876.1_5'UTR	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	10						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GGAAGCTCTCTGAATGCCTCTGAG	0.627																																																0									,	1,4189		0,1,2094					,	-2.9	0			23	0,8076		0,0,4038	no	frameshift,frameshift	DDX31	NM_138620.1,NM_022779.7	,	0,1,6132	A1A1,A1R,RR		0.0,0.0239,0.0082	,	,		1,12265				SO:0001589	frameshift_variant	64794			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.30_33delTTCA	9.37:g.135545604_135545607delTGAA	ENSP00000361232:p.His10fs		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Frame_Shift_Del	DEL	ENST00000372159.3	37	CCDS6951.1																																																																																				0.627	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		-	135545607	TGAA	-	135545604	7	5	415	1	0	1	0	1	0	0	0	0	4358	1567	55	0	2609	0	DDX31	9	135545604	Frame_Shift_Del	DEL	TGAA	TCGA-BP-5007-01A-01D-1462-08	3694346	135545604	5667827	10	22684											
RUFY2	55680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70140991	70140991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr10:70140991G>A	ENST00000602465.1	-	11	1205	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Nonsense_Mutation_p.Q311*|RUFY2_ENST00000388768.2_Nonsense_Mutation_p.Q404*|RUFY2_ENST00000399200.2_Nonsense_Mutation_p.Q335*			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	418						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.Q404*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATCCTTACCTGCAACTTTTGA	0.318																																																1	Substitution - Nonsense(1)	kidney(1)											126	115	118					10																	70140991		1822	4081	5903	SO:0001587	stop_gained	55680			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"Zinc fingers, FYVE domain containing"	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1105C>T	10.37:g.70140991G>A	ENSP00000473462:p.Gln369*		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Nonsense_Mutation	SNP	ENST00000602465.1	37		.	.	.	.	.	.	.	.	.	.	G	38	6.868091	0.97897	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	.	.	.	5.29	5.29	0.74685	.	0.110486	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	14.8186	0.70052	0.0:0.0:0.8556:0.1444	.	.	.	.	X	404;335;311	.	ENSP00000373420:Q404X	Q	-	1	0	RUFY2	69810997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.008000	0.70739	2.757000	0.94681	0.585000	0.79938	CAG		0.318	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		A	70140991	G	A	70140991	4	1	415	1	0	0	0	0	0	1	0	0	13745	1328	46	2	860	2	RUFY2	10	70140991	Nonsense_Mutation	SNP	G	TCGA-BP-5007-01A-01D-1462-08		70140991	65393756	11	22685											
IFIT3	3437	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	91099779	91099779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr10:91099779delT	ENST00000371818.4	+	2	1547	c.1367delT	c.(1366-1368)attfs	p.I456fs	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Frame_Shift_Del_p.I456fs|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	456					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						ATAGGCAGTATTTTCCTGTCA	0.517																																																0													75	77	76					10																	91099779		2203	4300	6503	SO:0001589	frameshift_variant	3437			U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"Tetratricopeptide (TTC) repeat domain containing"	5411	protein-coding gene	gene with protein product		604650	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1367delT	10.37:g.91099779delT	ENSP00000360883:p.Ile456fs		Q99634|Q9BSK7	Frame_Shift_Del	DEL	ENST00000371818.4	37	CCDS7402.1																																																																																				0.517	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		-	91099779	T	-	91099779	7	5	415	1	0	1	0	1	0	0	0	0	7526	1493	52	0	1382	0	IFIT3	10	91099779	Frame_Shift_Del	DEL	T	TCGA-BP-5007-01A-01D-1462-08	20958788	91099779	44434968	12	22686											
C10orf118	55088	broad.mit.edu;hgsc.bcm.edu	37	10	115885644	115885644	+	Splice_Site	SNP	C	C	A			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr10:115885644C>A	ENST00000369287.3	-	15	2880		c.e15+1		C10orf118_ENST00000543782.1_Intron	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN										p.?(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AACACAAATACCTTCAAAGTA	0.388																																																1	Unknown(1)	kidney(1)											60	61	61					10																	115885644		2203	4300	6503	SO:0001630	splice_region_variant	55088																														ENST00000369287.3:c.2613+1G>T	10.37:g.115885644C>A			Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Splice_Site	SNP	ENST00000369287.3	37	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729883	0.89390	.	.	ENSG00000165813	ENST00000369287;ENST00000430353	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3258	0.90254	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf118	115875634	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.699000	0.84547	2.748000	0.94277	0.650000	0.86243	.		0.388	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1		Intron	A	115885644	C	A	115885644	5	1	415	1	0	0	0	0	0	0	1	0	1589	521	18	4	90	4	C10orf118	10	115885644	Splice_Site	SNP	C	TCGA-BP-5007-01A-01D-1462-08	24785865	115885644	19649103	13	22687											
MS4A12	54860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60265014	60265014	+	Missense_Mutation	SNP	C	C	G	rs146116909		TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr11:60265014C>G	ENST00000016913.4	+	2	280	c.223C>G	c.(223-225)Cca>Gca	p.P75A	MS4A12_ENST00000537076.1_Missense_Mutation_p.P75A|MS4A12_ENST00000525951.1_3'UTR	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	75						integral component of membrane (GO:0016021)		p.P75A(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						AATGATAAATCCAAGTGTGGG	0.438																																																1	Substitution - Missense(1)	kidney(1)						C	ALA/PRO,ALA/PRO	0,4406		0,0,2203	55	54	54		223,223	-4.7	0	11	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	MS4A12	NM_001164470.1,NM_017716.2	27,27	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	benign,benign	75/222,75/268	60265014	2,13004	2203	4300	6503	SO:0001583	missense	54860			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.223C>G	11.37:g.60265014C>G	ENSP00000016913:p.Pro75Ala		F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	C	9.856	1.194925	0.22037	0.0	2.33E-4	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913;ENST00000530007	T;T;T;T	0.70282	0.36;-0.47;3.33;0.73	4.83	-4.68	0.03309	.	.	.	.	.	T	0.55417	0.1919	L	0.29908	0.895	0.09310	N	1	P;B	0.34639	0.461;0.197	B;B	0.39562	0.303;0.036	T	0.51942	-0.8641	9	0.40728	T	0.16	.	6.889	0.24218	0.0:0.2687:0.1351:0.5962	.	75;75	E9PNI3;Q9NXJ0	.;M4A12_HUMAN	A	75	ENSP00000440424:P75A;ENSP00000431959:P75A;ENSP00000016913:P75A;ENSP00000434783:P75A	ENSP00000016913:P75A	P	+	1	0	MS4A12	60021590	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-1.063000	0.03465	-0.783000	0.04534	0.462000	0.41574	CCA		0.438	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			G	60265014	C	G	60265014	3	3	415	1	0	0	0	0	1	0	0	0	9858	855	30	4	225	4	MS4A12	11	60265014	Missense_Mutation	SNP	C	TCGA-BP-5007-01A-01D-1462-08		60265014	74741502	14	22688											
DAGLA	747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61495757	61495757	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr11:61495757G>A	ENST00000257215.5	+	7	885	c.769G>A	c.(769-771)Gag>Aag	p.E257K		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	257					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.E257K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGTGCTGGACGAGGTGAGCAC	0.662																																																1	Substitution - Missense(1)	kidney(1)											96	84	88					11																	61495757		2202	4299	6501	SO:0001583	missense	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.769G>A	11.37:g.61495757G>A	ENSP00000257215:p.Glu257Lys		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260765	0.59431	.	.	ENSG00000134780	ENST00000257215	T	0.22945	1.93	4.74	4.74	0.60224	.	0.057271	0.64402	D	0.000001	T	0.12987	0.0315	N	0.08118	0	0.58432	D	0.999998	P	0.38711	0.643	B	0.27887	0.084	T	0.11518	-1.0584	10	0.35671	T	0.21	-28.9157	18.1135	0.89543	0.0:0.0:1.0:0.0	.	257	Q9Y4D2	DGLA_HUMAN	K	257	ENSP00000257215:E257K	ENSP00000257215:E257K	E	+	1	0	DAGLA	61252333	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.144000	0.77357	2.341000	0.79615	0.555000	0.69702	GAG		0.662	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		A	61495757	G	A	61495757	3	1	415	1	0	0	0	0	1	0	0	0	4228	1059	37	1	791	1	DAGLA	11	61495757	Missense_Mutation	SNP	G	TCGA-BP-5007-01A-01D-1462-08	1230743	61495757	73510759	15	22689											
HOXC8	3224	broad.mit.edu;ucsc.edu	37	12	54403161	54403161	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr12:54403161C>A	ENST00000040584.4	+	1	330	c.93C>A	c.(91-93)agC>agA	p.S31R	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	31					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S31R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						TCCCTCAGAGCGTGGGCAGGA	0.632																																					GBM(197;701 2226 7002 18822 41696)											1	Substitution - Missense(1)	kidney(1)											73	87	82					12																	54403161		2203	4300	6503	SO:0001583	missense	3224			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"Homeoboxes / ANTP class : HOXL subclass"	5129	protein-coding gene	gene with protein product		142970	"homeo box C8"	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.93C>A	12.37:g.54403161C>A	ENSP00000040584:p.Ser31Arg		A8K4J4|O15221|O15362	Missense_Mutation	SNP	ENST00000040584.4	37	CCDS8870.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813935	0.32053	.	.	ENSG00000037965	ENST00000040584	T	0.49720	0.77	4.01	1.05	0.20165	.	0.103275	0.64402	D	0.000006	T	0.50616	0.1626	M	0.73598	2.24	0.48185	D	0.999601	D	0.55385	0.971	P	0.49561	0.615	T	0.51434	-0.8706	10	0.66056	D	0.02	.	7.1537	0.25624	0.0:0.5126:0.0:0.4874	.	31	P31273	HXC8_HUMAN	R	31	ENSP00000040584:S31R	ENSP00000040584:S31R	S	+	3	2	HOXC8	52689428	1.000000	0.71417	0.987000	0.45799	0.016000	0.09150	1.851000	0.39338	0.288000	0.22398	-0.350000	0.07774	AGC		0.632	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2			A	54403161	C	A	54403161	3	1	415	1	0	0	0	0	1	0	0	0	7318	767	27	4	95	4	HOXC8	12	54403161	Missense_Mutation	SNP	C	TCGA-BP-5007-01A-01D-1462-08		54403161	79448734	16	22690											
VEZT	55591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	95645766	95645766	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr12:95645766A>T	ENST00000436874.1	+	2	192	c.87A>T	c.(85-87)gaA>gaT	p.E29D	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	29					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.E29D(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CAGACTTTGAAATATGTTCTT	0.358																																																2	Substitution - Missense(2)	kidney(2)											126	121	122					12																	95645766		1852	4087	5939	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.87A>T	12.37:g.95645766A>T	ENSP00000410083:p.Glu29Asp		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347105	0.82022	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000552821;ENST00000397796	T;T;T	0.64438	1.46;0.16;-0.1	5.76	4.58	0.56647	.	0.000000	0.85682	U	0.000000	T	0.73682	0.3618	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.70016	0.918;0.967	T	0.71663	-0.4525	10	0.36615	T	0.2	-35.9006	10.4615	0.44583	0.9243:0.0:0.0757:0.0	.	29;29	C9J154;Q9HBM0	.;VEZA_HUMAN	D	29;29;48;20;29	ENSP00000410083:E29D;ENSP00000449591:E29D;ENSP00000449701:E48D	ENSP00000380898:E29D	E	+	3	2	VEZT	94169897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.950000	0.56676	0.962000	0.38057	0.533000	0.62120	GAA		0.358	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		T	95645766	A	T	95645766	3	4	415	1	0	0	0	0	1	0	0	0	17161	11	1	5	93	5	VEZT	12	95645766	Missense_Mutation	SNP	A	TCGA-BP-5007-01A-01D-1462-08	41242605	95645766	38206129	17	22691											
GPC5	2262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	92345764	92345764	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr13:92345764A>T	ENST00000377067.3	+	3	1021	c.649A>T	c.(649-651)Agg>Tgg	p.R217W		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	217					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R217W(2)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACAGATGGGGAGGTCCCTGCT	0.522																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											49	47	48					13																	92345764		2203	4300	6503	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.649A>T	13.37:g.92345764A>T	ENSP00000366267:p.Arg217Trp		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511943	0.64522	.	.	ENSG00000179399	ENST00000377067	T	0.62364	0.03	5.07	2.57	0.30868	.	0.212839	0.47852	D	0.000203	T	0.76399	0.3982	M	0.77313	2.365	0.30884	N	0.731073	D	0.69078	0.997	D	0.73380	0.98	T	0.77046	-0.2733	10	0.87932	D	0	.	11.281	0.49195	0.6792:0.3208:0.0:0.0	.	217	P78333	GPC5_HUMAN	W	217	ENSP00000366267:R217W	ENSP00000366267:R217W	R	+	1	2	GPC5	91143765	0.348000	0.24861	0.997000	0.53966	0.886000	0.51366	1.181000	0.32017	0.247000	0.21414	0.383000	0.25322	AGG		0.522	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		T	92345764	A	T	92345764	3	4	415	1	0	0	0	0	1	0	0	0	6603	295	11	5	659	5	GPC5	13	92345764	Missense_Mutation	SNP	A	TCGA-BP-5007-01A-01D-1462-08		92345764	22824114	18	22692											
FAM179B	23116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45537687	45537687	+	Silent	SNP	C	C	T			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr14:45537687C>T	ENST00000361577.3	+	17	4865	c.4651C>T	c.(4651-4653)Ctg>Ttg	p.L1551L	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Silent_p.L1604L	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1551								p.L1551L(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCTGGTGGCTCTGGAAACAAT	0.299																																																1	Substitution - coding silent(1)	kidney(1)											75	76	76					14																	45537687		2203	4300	6503	SO:0001819	synonymous_variant	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4651C>T	14.37:g.45537687C>T			Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	CCDS9681.1																																																																																				0.299	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		T	45537687	C	T	45537687	2	4	415	1	0	0	0	0	0	0	0	1	5508	912	32	2		2	FAM179B	14	45537687	Silent	SNP	C	TCGA-BP-5007-01A-01D-1462-08		45537687	61811853	19	22693											
WDR72	256764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	53908347	53908347	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr15:53908347G>C	ENST00000396328.1	-	15	2295	c.2056C>G	c.(2056-2058)Ctg>Gtg	p.L686V	WDR72_ENST00000360509.5_Missense_Mutation_p.L686V|WDR72_ENST00000557913.1_Missense_Mutation_p.L683V|WDR72_ENST00000559418.1_Missense_Mutation_p.L696V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	686								p.L686V(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGGTTTTCCAGATCAAATAGA	0.423																																																1	Substitution - Missense(1)	kidney(1)											81	76	78					15																	53908347		2194	4291	6485	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2056C>G	15.37:g.53908347G>C	ENSP00000379619:p.Leu686Val		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	9.238	1.037449	0.19669	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35421	1.31;1.31	5.23	4.31	0.51392	.	0.000000	0.56097	D	0.000032	T	0.44286	0.1286	L	0.36672	1.1	0.34779	D	0.734491	D	0.76494	0.999	D	0.80764	0.994	T	0.45716	-0.9242	10	0.08837	T	0.75	.	12.7416	0.57255	0.0799:0.0:0.9201:0.0	.	686	Q3MJ13	WDR72_HUMAN	V	686	ENSP00000379619:L686V;ENSP00000353699:L686V	ENSP00000353699:L686V	L	-	1	2	WDR72	51695639	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.258000	0.32944	1.187000	0.43000	0.313000	0.20887	CTG		0.423	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		C	53908347	G	C	53908347	3	2	415	1	0	0	0	0	1	0	0	0	17327	933	33	4	1276	4	WDR72	15	53908347	Missense_Mutation	SNP	G	TCGA-BP-5007-01A-01D-1462-08		53908347	48623045	20	22694											
PIF1	80119	hgsc.bcm.edu	37	15	65114501	65114502	+	Frame_Shift_Ins	INS	-	-	G	rs138942444		TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr15:65114501_65114502insG	ENST00000268043.4	-	4	874_875	c.780_781insC	c.(778-783)gcctgcfs	p.C261fs	PIF1_ENST00000333425.6_Frame_Shift_Ins_p.C261fs|PIF1_ENST00000559239.1_Frame_Shift_Ins_p.C261fs					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CCGATGTGGCAGGCTGCCACCC	0.619																																																0																																										SO:0001589	frameshift_variant	80119			AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.781dupC	15.37:g.65114503_65114503dupG	ENSP00000268043:p.Cys261fs			Frame_Shift_Ins	INS	ENST00000268043.4	37	CCDS10195.2																																																																																				0.619	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		G	65114502	-	G	65114501	7	5	415	1	0	1	1	0	0	0	0	0	11885	188	7	0	1184	0	PIF1	15	65114501	Frame_Shift_Ins	INS	-	TCGA-BP-5007-01A-01D-1462-08	11206154	65114501	37416891	21	22695											
IFT140	9742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1639724	1639724	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr16:1639724C>T	ENST00000426508.2	-	7	1055	c.692G>A	c.(691-693)aGc>aAc	p.S231N	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	231					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.S231N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CTGAATCGTGCTGTCTGCGGA	0.572																																																1	Substitution - Missense(1)	kidney(1)											149	107	121					16																	1639724		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.692G>A	16.37:g.1639724C>T	ENSP00000406012:p.Ser231Asn		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	6.305	0.424337	0.11928	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.30714	1.52	4.87	4.87	0.63330	WD40 repeat-like-containing domain (1);	0.193191	0.56097	D	0.000040	T	0.25865	0.0630	L	0.48877	1.53	0.50632	D	0.999888	B	0.16166	0.016	B	0.09377	0.004	T	0.05289	-1.0894	10	0.18276	T	0.48	.	12.5427	0.56182	0.0:0.9154:0.0:0.0846	.	231	Q96RY7	IF140_HUMAN	N	231	ENSP00000406012:S231N	ENSP00000380562:S231N	S	-	2	0	IFT140	1579725	1.000000	0.71417	0.030000	0.17652	0.027000	0.11550	5.486000	0.66856	2.247000	0.74100	0.313000	0.20887	AGC		0.572	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		T	1639724	C	T	1639724	3	4	415	1	0	0	0	0	1	0	0	0	7558	797	28	2	3796	2	IFT140	16	1639724	Missense_Mutation	SNP	C	TCGA-BP-5007-01A-01D-1462-08		1639724	88715029	22	22696											
TBC1D10B	26000	broad.mit.edu	37	16	30380671	30380671	+	Silent	SNP	C	C	T			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr16:30380671C>T	ENST00000409939.3	-	1	914	c.834G>A	c.(832-834)ggG>ggA	p.G278G		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	278					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.G278G(1)|p.G3G(1)		endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			ACTCCAAGGTCCCAGACATGA	0.617																																																2	Substitution - coding silent(2)	kidney(2)											37	29	31					16																	30380671		2197	4300	6497	SO:0001819	synonymous_variant	26000			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.834G>A	16.37:g.30380671C>T			B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Silent	SNP	ENST00000409939.3	37	CCDS10676.2																																																																																				0.617	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		T	30380671	C	T	30380671	2	4	415	1	0	0	0	0	0	0	0	1	15604	842	30	2		2	TBC1D10B	16	30380671	Silent	SNP	C	TCGA-BP-5007-01A-01D-1462-08	28740947	30380671	59974082	23	22697											
KIF19	124602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72340956	72340956	+	Silent	SNP	C	C	A	rs564644989		TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr17:72340956C>A	ENST00000389916.4	+	7	777	c.639C>A	c.(637-639)gcC>gcA	p.A213A		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	213	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.A213A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCACGGCCGCCAACCAGACGT	0.672																																																1	Substitution - coding silent(1)	kidney(1)											37	40	39					17																	72340956		2201	4298	6499	SO:0001819	synonymous_variant	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.639C>A	17.37:g.72340956C>A			A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	CCDS32718.2																																																																																				0.672	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72340956	C	A	72340956	2	1	415	1	0	0	0	0	0	0	0	1	8284	581	21	4		4	KIF19	17	72340956	Silent	SNP	C	TCGA-BP-5007-01A-01D-1462-08		72340956	8854254	24	22698											
LMAN1	3998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	57026429	57026429	+	Silent	SNP	C	C	T			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr18:57026429C>T	ENST00000251047.5	-	1	765	c.48G>A	c.(46-48)ctG>ctA	p.L16L	RP11-27G24.1_ENST00000591331.1_lincRNA	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	16					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.L16L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AGGCGCAGAACAGCGGCCGAA	0.672																																																1	Substitution - coding silent(1)	kidney(1)											54	64	60					18																	57026429		2203	4300	6503	SO:0001819	synonymous_variant	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.48G>A	18.37:g.57026429C>T			Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Silent	SNP	ENST00000251047.5	37	CCDS11974.1																																																																																				0.672	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		T	57026429	C	T	57026429	2	4	415	1	0	0	0	0	0	0	0	1	8838	465	17	2		2	LMAN1	18	57026429	Silent	SNP	C	TCGA-BP-5007-01A-01D-1462-08		57026429	21050819	25	22699											
C19orf26	255057	broad.mit.edu;hgsc.bcm.edu	37	19	1234610	1234610	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr19:1234610T>C	ENST00000382477.2	-	6	921	c.647A>G	c.(646-648)cAc>cGc	p.H216R	C19orf26_ENST00000215376.6_Missense_Mutation_p.H190R|C19orf26_ENST00000590083.1_Missense_Mutation_p.H196R			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	216						integral component of membrane (GO:0016021)		p.H190R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGCCGGGTGGGGCGTGGT	0.682										HNSCC(14;0.022)																																						1	Substitution - Missense(1)	kidney(1)											60	52	55					19																	1234610		2193	4294	6487	SO:0001583	missense	255057			BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.647A>G	19.37:g.1234610T>C	ENSP00000371917:p.His216Arg		O43385	Missense_Mutation	SNP	ENST00000382477.2	37		.	.	.	.	.	.	.	.	.	.	T	0.006	-2.090645	0.00367	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.06	2.04	0.26737	.	0.433800	0.21195	N	0.078564	T	0.13756	0.0333	N	0.12746	0.255	0.22996	N	0.998453	B	0.06786	0.001	B	0.09377	0.004	T	0.29579	-1.0007	9	0.05721	T	0.95	0.5935	4.3315	0.11066	0.0:0.1583:0.0:0.8417	.	190	Q8N350-2	.	R	216;190	.	ENSP00000215376:H190R	H	-	2	0	C19orf26	1185610	1.000000	0.71417	0.521000	0.27850	0.059000	0.15707	2.454000	0.44979	1.407000	0.46875	0.459000	0.35465	CAC		0.682	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		C	1234610	T	C	1234610	3	2	415	1	0	0	0	0	1	0	0	0	1918	1696	59	3	790	3	C19orf26	19	1234610	Missense_Mutation	SNP	T	TCGA-BP-5007-01A-01D-1462-08		1234610	57894373	26	22700											
DOT1L	84444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2223398	2223398	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr19:2223398G>A	ENST00000398665.3	+	25	3545	c.3509G>A	c.(3508-3510)cGg>cAg	p.R1170Q		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1170					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.R1170Q(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAAGGAGCGGCCTCTGAGC	0.657																																																2	Substitution - Missense(2)	kidney(2)											59	68	65					19																	2223398		1990	4162	6152	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3509G>A	19.37:g.2223398G>A	ENSP00000381657:p.Arg1170Gln		O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.651998|4.651998	0.88056|0.88056	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000440640|ENST00000398665;ENST00000221482;ENST00000457590	.|T;T	.|0.37584	.|1.51;1.19	5.01|5.01	3.99|3.99	0.46301|0.46301	.|.	.|0.130189	.|0.50627	.|D	.|0.000105	T|T	0.19005|0.19005	0.0456|0.0456	L|L	0.34521|0.34521	1.04|1.04	0.28952|0.28952	N|N	0.890337|0.890337	.|P;P	.|0.48640	.|0.913;0.733	.|B;B	.|0.31495	.|0.091;0.131	T|T	0.30765|0.30765	-0.9967|-0.9967	5|10	.|0.87932	.|D	.|0	-20.7251|-20.7251	4.6411|4.6411	0.12548|0.12548	0.7964:0.0:0.2036:0.0|0.7964:0.0:0.2036:0.0	.|.	.|1170;1170	.|Q8TEK3;Q8TEK3-2	.|DOT1L_HUMAN;.	S|Q	957|1170;1170;50	.|ENSP00000381657:R1170Q;ENSP00000407411:R50Q	.|ENSP00000221482:R1170Q	G|R	+|+	1|2	0|0	DOT1L|DOT1L	2174398|2174398	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.559000|3.559000	0.53756|0.53756	0.921000|0.921000	0.36994|0.36994	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.657	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		A	2223398	G	A	2223398	3	1	415	1	0	0	0	0	1	0	0	0	4711	1116	39	1	3607	1	DOT1L	19	2223398	Missense_Mutation	SNP	G	TCGA-BP-5007-01A-01D-1462-08	988788	2223398	56905585	27	22701											
ZNF100	163227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	21909595	21909595	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr19:21909595G>T	ENST00000358296.6	-	5	1717	c.1519C>A	c.(1519-1521)Cat>Aat	p.H507N	ZNF100_ENST00000305570.6_Missense_Mutation_p.H443N	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H507N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TCTCCAGTATGAGTTATCTTA	0.373																																																1	Substitution - Missense(1)	kidney(1)											61	69	67					19																	21909595		2197	4291	6488	SO:0001583	missense	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1519C>A	19.37:g.21909595G>T	ENSP00000351042:p.His507Asn		Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	8.078	0.771846	0.16051	.	.	ENSG00000197020	ENST00000358296	T	0.28895	1.59	0.867	0.867	0.19085	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57519	0.2059	M	0.91612	3.225	0.30950	N	0.724897	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;0.997	T	0.57963	-0.7720	9	0.87932	D	0	.	6.4243	0.21760	0.0:0.3102:0.6898:0.0	.	507;561	Q8IYN0;Q4G131	ZN100_HUMAN;.	N	507	ENSP00000351042:H507N	ENSP00000351042:H507N	H	-	1	0	ZNF100	21701435	1.000000	0.71417	0.080000	0.20451	0.078000	0.17371	3.867000	0.56047	0.284000	0.22305	0.289000	0.19496	CAT		0.373	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		T	21909595	G	T	21909595	3	4	415	1	0	0	0	0	1	0	0	0	17718	1290	45	4	113	4	ZNF100	19	21909595	Missense_Mutation	SNP	G	TCGA-BP-5007-01A-01D-1462-08	19686197	21909595	37219388	28	22702											
PARD6B	84612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	49366663	49366664	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	AA	AA	AA	-	AA	AA	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr20:49366663_49366664delAA	ENST00000371610.2	+	3	1000_1001	c.757_758delAA	c.(757-759)aatfs	p.N254fs	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	254					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AAACCAGAGGAATAATGTTGTG	0.465																																																0																																										SO:0001589	frameshift_variant	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.757_758delAA	20.37:g.49366663_49366664delAA	ENSP00000360672:p.Asn254fs		A2A2A7|Q9Y510	Frame_Shift_Del	DEL	ENST00000371610.2	37	CCDS33485.1																																																																																				0.465	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		-	49366664	AA	-	49366663	7	5	415	1	0	1	0	1	0	0	0	0	11448	246	9	0	767	0	PARD6B	20	49366663	Frame_Shift_Del	DEL	AA	TCGA-BP-5007-01A-01D-1462-08		49366663	13658857	29	22703											
SFRS15	57466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33066569	33066569	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5007-01A-01D-1462-08	TCGA-BP-5007-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	830e29e4-acf5-4247-b2d4-c19ad859820f	42a08dce-9507-40d4-80f8-9b0f18ddd0c4	g.chr21:33066569C>T	ENST00000286835.7	-	11	1652	c.1270G>A	c.(1270-1272)Gtt>Att	p.V424I	SCAF4_ENST00000434667.3_Missense_Mutation_p.V409I|SCAF4_ENST00000399804.1_Missense_Mutation_p.V424I	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	424						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V424I(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGTCGCTTAACCTCTTGAATA	0.318																																																1	Substitution - Missense(1)	kidney(1)											78	74	76					21																	33066569		2203	4298	6501	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1270G>A	21.37:g.33066569C>T	ENSP00000286835:p.Val424Ile		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481876	0.44147	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.30981	4.29;4.29;1.51	6.17	3.25	0.37280	Nucleotide-binding, alpha-beta plait (1);	0.860921	0.10482	N	0.669426	T	0.20495	0.0493	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.19817	0.011;0.039;0.019;0.011	B;B;B;B	0.17722	0.008;0.015;0.019;0.008	T	0.13124	-1.0521	10	0.37606	T	0.19	-10.6533	4.9483	0.14000	0.1184:0.6107:0.1155:0.1554	.	409;424;424;424	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	I	409;424;424	ENSP00000402377:V409I;ENSP00000286835:V424I;ENSP00000382703:V424I	ENSP00000286835:V424I	V	-	1	0	SCAF4	31988440	0.444000	0.25649	0.935000	0.37517	0.985000	0.73830	1.266000	0.33039	1.612000	0.50221	0.655000	0.94253	GTT		0.318	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		T	33066569	C	T	33066569	3	4	415	1	0	0	0	0	1	0	0	0	14177	507	18	2	2213	2	SFRS15	21	33066569	Missense_Mutation	SNP	C	TCGA-BP-5007-01A-01D-1462-08		33066569	15063326	30	22704											
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	A	rs5030807		TCGA-BP-5008-01A-01D-1392-10	TCGA-BP-5008-11A-01D-1392-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	70d9fb04-75b3-445f-8c8a-0004211428e3	053cd8bf-5805-41a8-ac61-78e77051a4d6	g.chr3:10183797T>A	ENST00000256474.2	+	1	1106	c.266T>A	c.(265-267)cTc>cAc	p.L89H	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.L89H	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13	16	15					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>A	3.37:g.10183797T>A	ENSP00000256474:p.Leu89His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986585	0.93106	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99576	0.9847	L	0.41492	1.28	0.33129	D	0.542832	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.957	D	0.97755	1.0217	10	0.87932	D	0	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	.	89;89	P40337-2;P40337	.;VHL_HUMAN	H	89	ENSP00000256474:L89H;ENSP00000344757:L89H	ENSP00000256474:L89H	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183797	T	A	10183797	3	1	416	1	0	0	0	0	1	0	0	0	17167	1551	54	5	268	5	VHL	3	10183797	Missense_Mutation	SNP	T	TCGA-BP-5008-01A-01D-1392-10		10183797	187838633	1	22705											
AIM1L	55057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26663759	26663759	+	Silent	SNP	G	G	A			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr1:26663759G>A	ENST00000308182.5	-	9	1050	c.621C>T	c.(619-621)ctC>ctT	p.L207L	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000527815.1_Silent_p.L378L			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	207	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)	p.L207L(1)|p.L378L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGATGACCCGGAGGGAGGTCA	0.592																																																2	Substitution - coding silent(2)	kidney(2)											93	85	87					1																	26663759		2203	4300	6503	SO:0001819	synonymous_variant	55057					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.621C>T	1.37:g.26663759G>A			B2RNG3|Q5T137|Q5T150	Silent	SNP	ENST00000308182.5	37		.	.	.	.	.	.	.	.	.	.	G	8.991	0.977716	0.18812	.	.	ENSG00000176092	ENST00000429942	.	.	.	4.88	3.03	0.35002	.	.	.	.	.	T	0.46658	0.1404	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	.	3.3293	0.07079	0.2822:0.3542:0.2836:0.08	.	.	.	.	S	145	.	.	P	-	1	0	AIM1L	26536346	0.976000	0.34144	1.000000	0.80357	0.937000	0.57800	0.069000	0.14552	0.672000	0.31204	-0.823000	0.03104	CCG		0.592	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		A	26663759	G	A	26663759	2	1	417	1	0	0	0	0	0	0	0	1	431	1161	41	2		2	AIM1L	1	26663759	Silent	SNP	G	TCGA-BP-5008-01A-01D-1462-08		26663759	222586862	1	22706											
C1orf198	84886	broad.mit.edu	37	1	230979640	230979640	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr1:230979640A>T	ENST00000366663.5	-	3	527	c.387T>A	c.(385-387)agT>agA	p.S129R	C1orf198_ENST00000470540.1_Missense_Mutation_p.S91R|C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000523410.1_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	129						cytoplasm (GO:0005737)		p.S129R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ACTCCATCTGACTCTAGGGTG	0.572																																																1	Substitution - Missense(1)	kidney(1)											73	83	80					1																	230979640		2172	4240	6412	SO:0001583	missense	84886			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.387T>A	1.37:g.230979640A>T	ENSP00000355623:p.Ser129Arg		A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910788	0.52439	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000522201	T;T	0.69175	-0.38;-0.38	4.29	1.9	0.25705	.	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76305	-0.3008	10	0.87932	D	0	-8.9005	7.3718	0.26806	0.7483:0.0:0.2517:0.0	.	129	Q9H425	CA198_HUMAN	R	129;91;86	ENSP00000355623:S129R;ENSP00000428172:S91R	ENSP00000355623:S129R	S	-	3	2	C1orf198	229046263	0.999000	0.42202	1.000000	0.80357	0.409000	0.31022	0.700000	0.25601	0.194000	0.20326	0.379000	0.24179	AGT		0.572	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		T	230979640	A	T	230979640	3	4	417	1	0	0	0	0	1	0	0	0	2028	272	10	5	604	5	C1orf198	1	230979640	Missense_Mutation	SNP	A	TCGA-BP-5008-01A-01D-1462-08	204315881	230979640	18270981	2	22707											
ROCK2	9475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11361380	11361380	+	Silent	SNP	T	T	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr2:11361380T>C	ENST00000315872.6	-	9	1651	c.1203A>G	c.(1201-1203)aaA>aaG	p.K401K	ROCK2_ENST00000401753.1_Silent_p.K158K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	401	AGC-kinase C-terminal.|Interaction with NPM1.|Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.K401K(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAACAAAAGCTTTAGGAATTG	0.358																																																2	Substitution - coding silent(2)	kidney(2)											134	132	132					2																	11361380		1851	4097	5948	SO:0001819	synonymous_variant	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1203A>G	2.37:g.11361380T>C			Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	CCDS42654.1																																																																																				0.358	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			C	11361380	T	C	11361380	2	2	417	1	0	0	0	0	0	0	0	1	13524	1606	56	3		3	ROCK2	2	11361380	Silent	SNP	T	TCGA-BP-5008-01A-01D-1462-08		11361380	231837993	3	22708											
PLEKHH2	130271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43924441	43924441	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr2:43924441A>C	ENST00000282406.4	+	7	744	c.634A>C	c.(634-636)Atg>Ctg	p.M212L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	212					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.M212L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATCTGAGGAAATGAGCAAGAT	0.408																																																1	Substitution - Missense(1)	kidney(1)											98	96	96					2																	43924441		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.634A>C	2.37:g.43924441A>C	ENSP00000282406:p.Met212Leu		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	4.669	0.124386	0.08931	.	.	ENSG00000152527	ENST00000282406	T	0.10192	2.9	5.14	0.153	0.14897	.	1.026730	0.07652	N	0.932159	T	0.05868	0.0153	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45991	-0.9223	10	0.17369	T	0.5	0.1672	6.5296	0.22320	0.4911:0.1316:0.3773:0.0	.	212;212	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	L	212	ENSP00000282406:M212L	ENSP00000282406:M212L	M	+	1	0	PLEKHH2	43777945	0.014000	0.17966	0.197000	0.23402	0.890000	0.51754	0.150000	0.16263	0.028000	0.15324	0.528000	0.53228	ATG		0.408	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		C	43924441	A	C	43924441	3	2	417	1	0	0	0	0	1	0	0	0	12079	101	4	5	656	5	PLEKHH2	2	43924441	Missense_Mutation	SNP	A	TCGA-BP-5008-01A-01D-1462-08	32563061	43924441	199274932	4	22709											
DBI	1622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	120129819	120129819	+	Splice_Site	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr2:120129819A>T	ENST00000355857.3	+	4	321		c.e4-1		DBI_ENST00000393103.2_Splice_Site|DBI_ENST00000409094.1_Splice_Site|DBI_ENST00000535617.1_Splice_Site|DBI_ENST00000311521.4_Splice_Site|DBI_ENST00000460901.1_Splice_Site|DBI_ENST00000535757.1_Splice_Site|DBI_ENST00000542275.1_Splice_Site	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)						hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)	p.?(1)		kidney(1)|lung(4)|skin(1)	6						GATTCCTTACAGGGACTTCCA	0.473																																																1	Unknown(1)	kidney(1)											130	122	125					2																	120129819		2203	4300	6503	SO:0001630	splice_region_variant	1622			L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"endozepine"	125950	"diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.191-1A>T	2.37:g.120129819A>T			B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Splice_Site	SNP	ENST00000355857.3	37	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860103	0.51482	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9958	0.53201	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DBI	119846289	1.000000	0.71417	0.984000	0.44739	0.458000	0.32498	6.820000	0.75267	2.326000	0.78906	0.533000	0.62120	.		0.473	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548	Intron	T	120129819	A	T	120129819	5	4	417	1	0	0	0	0	0	0	1	0	4253	202	7	5	509	5	DBI	2	120129819	Splice_Site	SNP	A	TCGA-BP-5008-01A-01D-1462-08	76205378	120129819	123069554	5	22710											
DNAH7	56171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	196837108	196837108	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr2:196837108A>C	ENST00000312428.6	-	16	2016	c.1916T>G	c.(1915-1917)cTc>cGc	p.L639R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	639	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L639R(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATACTCGATGAGGAAGGCGAG	0.393																																																1	Substitution - Missense(1)	kidney(1)											183	165	171					2																	196837108		1867	4115	5982	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1916T>G	2.37:g.196837108A>C	ENSP00000311273:p.Leu639Arg		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.707112	0.48412	.	.	ENSG00000118997	ENST00000312428	T	0.30182	1.54	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000009	T	0.60196	0.2250	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.68735	-0.5330	10	0.87932	D	0	.	14.2145	0.65783	1.0:0.0:0.0:0.0	.	639	Q8WXX0	DYH7_HUMAN	R	639	ENSP00000311273:L639R	ENSP00000311273:L639R	L	-	2	0	DNAH7	196545353	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	7.933000	0.87642	1.904000	0.55121	0.455000	0.32223	CTC		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		C	196837108	A	C	196837108	3	2	417	1	0	0	0	0	1	0	0	0	4608	304	11	5	10358	5	DNAH7	2	196837108	Missense_Mutation	SNP	A	TCGA-BP-5008-01A-01D-1462-08	76707289	196837108	46362265	6	22711											
RASSF6	166824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	74459276	74459276	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr4:74459276A>C	ENST00000342081.3	-	4	405	c.275T>G	c.(274-276)cTg>cGg	p.L92R	RASSF6_ENST00000395777.2_Missense_Mutation_p.L60R|RASSF6_ENST00000335049.5_Missense_Mutation_p.L48R|RASSF6_ENST00000307439.5_Missense_Mutation_p.L60R	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	92					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)			p.L60R(1)|p.L92R(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAAAATGTCCAGCATTCCTTC	0.353																																																2	Substitution - Missense(2)	kidney(2)											109	111	110					4																	74459276		2203	4300	6503	SO:0001583	missense	166824			AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.275T>G	4.37:g.74459276A>C	ENSP00000340578:p.Leu92Arg		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	37	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863396	0.71949	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.42	5.42	0.78866	.	0.082163	0.53938	D	0.000050	T	0.72366	0.3451	M	0.80847	2.515	0.46478	D	0.999067	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.76512	-0.2932	10	0.87932	D	0	-9.9148	11.8484	0.52397	1.0:0.0:0.0:0.0	.	48;60;92	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	R	60;92;60;48	ENSP00000303877:L60R;ENSP00000340578:L92R;ENSP00000379123:L60R;ENSP00000335582:L48R	ENSP00000303877:L60R	L	-	2	0	RASSF6	74678140	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.908000	0.69916	2.071000	0.62044	0.443000	0.29094	CTG		0.353	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		C	74459276	A	C	74459276	3	2	417	1	0	0	0	0	1	0	0	0	13096	188	7	5	866	5	RASSF6	4	74459276	Missense_Mutation	SNP	A	TCGA-BP-5008-01A-01D-1462-08		74459276	116695000	7	22712											
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	126389800	126389801	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr4:126389800_126389801GC>CA	ENST00000394329.3	+	11	12046_12047	c.12033_12034GC>CA	c.(12031-12036)ttGCtt>ttCAtt	p.4011_4012LL>FI	FAT4_ENST00000335110.5_Missense_Mutation_p.2274_2275LL>FI	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4011	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L4011>?(1)|p.L4011F(1)|p.L3977I(1)|p.L3976F(1)|p.L4012I(1)|p.L3976>?(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGCCTTATTGCTTTACAACTA	0.391																																																6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	Exception_encountered	4.37:g.126389800_126389801delinsCA	ENSP00000377862:p.L4011_L4012delinsFI		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.391	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		CA	126389801	GC	CA	126389800	3	2	417	1	0	0	0	0	1	0	0	0	5694	1310	46	4	12075	4	FAT4	4	126389800	Missense_Mutation	DNP	GC	TCGA-BP-5008-01A-01D-1462-08	51930524	126389800	64764476	8	22713											
FBXO38	81545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	147781573	147781573	+	Silent	SNP	A	A	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr5:147781573A>G	ENST00000340253.5	+	4	459	c.291A>G	c.(289-291)ctA>ctG	p.L97L	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Silent_p.L97L|FBXO38_ENST00000513826.1_Silent_p.L97L|FBXO38_ENST00000394370.3_Silent_p.L97L			Q6PIJ6	FBX38_HUMAN	F-box protein 38	97	Interaction with KLF7. {ECO:0000250}.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L97L(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTAACACTATTAAAGAAGA	0.428																																																1	Substitution - coding silent(1)	kidney(1)											104	104	104					5																	147781573		2203	4299	6502	SO:0001819	synonymous_variant	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.291A>G	5.37:g.147781573A>G			Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37																																																																																					0.428	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		G	147781573	A	G	147781573	2	3	417	1	0	0	0	0	0	0	0	1	5748	436	16	3		3	FBXO38	5	147781573	Silent	SNP	A	TCGA-BP-5008-01A-01D-1462-08		147781573	33133687	9	22714											
ADAMTS2	9509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178579193	178579193	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr5:178579193T>G	ENST00000251582.7	-	10	1680	c.1579A>C	c.(1579-1581)Aag>Cag	p.K527Q	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.K527Q	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	527	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K527Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTCTTGGTCTTGCAAAAGTAG	0.597																																																1	Substitution - Missense(1)	kidney(1)											74	68	70					5																	178579193		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1579A>C	5.37:g.178579193T>G	ENSP00000251582:p.Lys527Gln			Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571119	0.86542	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.68624	-0.34;-0.34	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000015	T	0.72526	0.3471	L	0.31120	0.905	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.73219	-0.4052	10	0.42905	T	0.14	.	14.5676	0.68188	0.0:0.0:0.0:1.0	.	527;527	O95450-2;O95450	.;ATS2_HUMAN	Q	527	ENSP00000251582:K527Q;ENSP00000274609:K527Q	ENSP00000251582:K527Q	K	-	1	0	ADAMTS2	178511799	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.832000	0.86757	2.033000	0.60031	0.454000	0.30748	AAG		0.597	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		G	178579193	T	G	178579193	3	3	417	1	0	0	0	0	1	0	0	0	265	1821	63	5	2183	5	ADAMTS2	5	178579193	Missense_Mutation	SNP	T	TCGA-BP-5008-01A-01D-1462-08	30797620	178579193	2336067	10	22715											
SCAND3	114821	broad.mit.edu;ucsc.edu	37	6	28542935	28542935	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr6:28542935T>A	ENST00000452236.2	-	3	2164	c.1547A>T	c.(1546-1548)cAg>cTg	p.Q516L	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.Q516L(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ACATGGAGTCTGTTGCATGCT	0.418																																																1	Substitution - Missense(1)	kidney(1)											134	131	132					6																	28542935		2203	4300	6503	SO:0001583	missense	114821																														ENST00000452236.2:c.1547A>T	6.37:g.28542935T>A	ENSP00000395259:p.Gln516Leu			Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.907746	0.33721	.	.	ENSG00000232040	ENST00000452236	T	0.38401	1.14	3.41	3.41	0.39046	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.25717	0.0626	M	0.64997	1.995	0.27728	N	0.944898	D	0.53885	0.963	P	0.47402	0.546	T	0.06445	-1.0826	9	0.72032	D	0.01	.	8.4296	0.32750	0.0:0.0:0.0:1.0	.	516	Q6R2W3	SCND3_HUMAN	L	516	ENSP00000395259:Q516L	ENSP00000395259:Q516L	Q	-	2	0	SCAND3	28650914	0.001000	0.12720	0.958000	0.39756	0.569000	0.35902	0.186000	0.16978	1.558000	0.49541	0.460000	0.39030	CAG		0.418	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			A	28542935	T	A	28542935	3	1	417	1	0	0	0	0	1	0	0	0	13882	1580	55	5	2438	5	SCAND3	6	28542935	Missense_Mutation	SNP	T	TCGA-BP-5008-01A-01D-1462-08		28542935	142572132	11	22716											
PLEKHG1	57480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	151153138	151153138	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr6:151153138T>C	ENST00000358517.2	+	15	3102	c.2891T>C	c.(2890-2892)cTg>cCg	p.L964P	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.L964P			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	964							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L964P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AACCCTGACCTGGGGATGGAG	0.483																																																1	Substitution - Missense(1)	kidney(1)											124	138	133					6																	151153138		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2891T>C	6.37:g.151153138T>C	ENSP00000351318:p.Leu964Pro		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	T	0.069	-1.205543	0.01568	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.25579	1.79;1.79	5.57	1.65	0.23941	.	0.739096	0.13812	N	0.361041	T	0.01454	0.0047	N	0.00246	-1.78	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.46871	-0.9160	10	0.29301	T	0.29	.	4.9102	0.13818	0.1625:0.4594:0.0:0.3781	.	771;964;964	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	P	964	ENSP00000356297:L964P;ENSP00000351318:L964P	ENSP00000351318:L964P	L	+	2	0	PLEKHG1	151194831	0.000000	0.05858	0.001000	0.08648	0.819000	0.46315	0.493000	0.22451	0.318000	0.23185	-0.959000	0.02639	CTG		0.483	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			C	151153138	T	C	151153138	3	2	417	1	0	0	0	0	1	0	0	0	12070	1580	55	3	2945	3	PLEKHG1	6	151153138	Missense_Mutation	SNP	T	TCGA-BP-5008-01A-01D-1462-08	122610203	151153138	19961929	12	22717											
HECW1	23072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	43400541	43400541	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr7:43400541A>T	ENST00000395891.2	+	6	1122	c.517A>T	c.(517-519)Acc>Tcc	p.T173S	HECW1_ENST00000453890.1_Missense_Mutation_p.T173S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	173					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T152S(1)|p.T173S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTGCGAGCAACCACCCCCAG	0.458																																																2	Substitution - Missense(2)	kidney(2)											104	109	108					7																	43400541		1960	4126	6086	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.517A>T	7.37:g.43400541A>T	ENSP00000379228:p.Thr173Ser		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463517	0.84425	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.36878	1.28;1.23	5.44	5.44	0.79542	.	0.329226	0.21438	U	0.074523	T	0.59266	0.2181	M	0.71581	2.175	0.50632	D	0.999889	D;P;D	0.69078	0.997;0.904;0.997	D;P;D	0.75020	0.985;0.86;0.985	T	0.62676	-0.6804	10	0.72032	D	0.01	.	14.479	0.67567	1.0:0.0:0.0:0.0	.	173;205;173	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	S	173;173;172	ENSP00000379228:T173S;ENSP00000407774:T173S	ENSP00000265522:T172S	T	+	1	0	HECW1	43367066	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.455000	0.73497	2.063000	0.61619	0.533000	0.62120	ACC		0.458	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		T	43400541	A	T	43400541	3	4	417	1	0	0	0	0	1	0	0	0	7044	43	2	5	531	5	HECW1	7	43400541	Missense_Mutation	SNP	A	TCGA-BP-5008-01A-01D-1462-08		43400541	115738122	13	22718											
ZNF862	643641	broad.mit.edu	37	7	149544912	149544912	+	Silent	SNP	C	C	A			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr7:149544912C>A	ENST00000223210.4	+	4	575	c.330C>A	c.(328-330)gcC>gcA	p.A110A		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A110A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGAAGAAAGCCTACCTTTCCC	0.542																																																1	Substitution - coding silent(1)	kidney(1)											43	46	45					7																	149544912		1953	4139	6092	SO:0001819	synonymous_variant	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.330C>A	7.37:g.149544912C>A			A0AUL8	Silent	SNP	ENST00000223210.4	37	CCDS47741.1																																																																																				0.542	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		A	149544912	C	A	149544912	2	1	417	1	0	0	0	0	0	0	0	1	18200	668	24	4		4	ZNF862	7	149544912	Silent	SNP	C	TCGA-BP-5008-01A-01D-1462-08	106144371	149544912	9593751	14	22719											
RPL30	6156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	99054939	99054939	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr8:99054939T>C	ENST00000521291.1	-	3	378	c.232A>G	c.(232-234)Aat>Gat	p.N78D	SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000523172.1_Missense_Mutation_p.N14D|RPL30_ENST00000287038.3_Missense_Mutation_p.N78D|RPL30_ENST00000518164.1_Intron|RPL30_ENST00000396070.2_Missense_Mutation_p.N59D|KB-1208A12.3_ENST00000501016.2_RNA			P62888	RL30_HUMAN	ribosomal protein L30	78					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.N78D(1)		kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			AGTTCAATATTATTGCCACTG	0.368																																																1	Substitution - Missense(1)	kidney(1)											114	102	106					8																	99054939		2203	4300	6503	SO:0001583	missense	6156				CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"L ribosomal proteins"	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.232A>G	8.37:g.99054939T>C	ENSP00000428085:p.Asn78Asp		B2R591|P04645|Q502Z6	Missense_Mutation	SNP	ENST00000521291.1	37	CCDS34928.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698878	0.88830	.	.	ENSG00000156482	ENST00000521291;ENST00000396070;ENST00000287038;ENST00000523172;ENST00000521726	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	4.94	4.94	0.65067	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	H	0.99225	4.475	0.80722	D	1	P	0.36837	0.571	P	0.49387	0.609	D	0.87534	0.2454	10	0.87932	D	0	-7.257	13.4746	0.61301	0.0:0.0:0.0:1.0	.	78	P62888	RL30_HUMAN	D	78;59;78;14;78	ENSP00000428085:N78D;ENSP00000287038:N78D;ENSP00000430506:N14D;ENSP00000429483:N78D	ENSP00000287038:N78D	N	-	1	0	RPL30	99124115	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.831000	0.86748	1.982000	0.57802	0.533000	0.62120	AAT		0.368	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380450.1			C	99054939	T	C	99054939	3	2	417	1	0	0	0	0	1	0	0	0	13586	1754	61	3	123	3	RPL30	8	99054939	Missense_Mutation	SNP	T	TCGA-BP-5008-01A-01D-1462-08		99054939	47309083	15	22720											
IFNA5	3442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	21304871	21304871	+	Missense_Mutation	SNP	C	C	G	rs370988896		TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr9:21304871C>G	ENST00000259555.4	-	1	441	c.385G>C	c.(385-387)Gtg>Ctg	p.V129L		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	129					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.V129L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTGTCTTCCACTCCAACCTCC	0.443																																																1	Substitution - Missense(1)	kidney(1)											153	152	152					9																	21304871		2203	4300	6503	SO:0001583	missense	3442				CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"Interferons"	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.385G>C	9.37:g.21304871C>G	ENSP00000259555:p.Val129Leu		Q52LX3	Missense_Mutation	SNP	ENST00000259555.4	37	CCDS6502.1	.	.	.	.	.	.	.	.	.	.	C	5.799	0.331655	0.10956	.	.	ENSG00000147873	ENST00000259555	T	0.03301	3.98	4.16	-5.83	0.02325	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.718250	0.02674	N	0.108958	T	0.03608	0.0103	L	0.45470	1.425	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.43750	-0.9372	10	0.26408	T	0.33	.	3.9098	0.09197	0.1268:0.1866:0.5017:0.1849	.	129	P01569	IFNA5_HUMAN	L	129	ENSP00000259555:V129L	ENSP00000259555:V129L	V	-	1	0	IFNA5	21294871	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.778000	0.00775	-0.627000	0.05589	-0.311000	0.09066	GTG		0.443	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051893.1	NM_002169		G	21304871	C	G	21304871	3	3	417	1	0	0	0	0	1	0	0	0	7542	565	20	4	188	4	IFNA5	9	21304871	Missense_Mutation	SNP	C	TCGA-BP-5008-01A-01D-1462-08		21304871	119908560	16	22721											
ABCA1	19	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	107564349	107564349	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr9:107564349G>T	ENST00000374736.3	-	34	5078	c.4684C>A	c.(4684-4686)Cta>Ata	p.L1562I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1562					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.L1562I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCCAGCTTTAGGTGTTTCTTC	0.423																																																1	Substitution - Missense(1)	kidney(1)											157	144	148					9																	107564349		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4684C>A	9.37:g.107564349G>T	ENSP00000363868:p.Leu1562Ile		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399355	0.62177	.	.	ENSG00000165029	ENST00000374736	D	0.89485	-2.52	5.78	2.21	0.28008	.	0.173853	0.50627	D	0.000119	D	0.87354	0.6156	L	0.53249	1.67	0.80722	D	1	B	0.26635	0.155	B	0.39339	0.297	T	0.81801	-0.0766	10	0.56958	D	0.05	.	8.2396	0.31652	0.6925:0.0:0.3075:0.0	.	1562	O95477	ABCA1_HUMAN	I	1562	ENSP00000363868:L1562I	ENSP00000363868:L1562I	L	-	1	2	ABCA1	106604170	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	4.089000	0.57685	0.199000	0.20427	-0.302000	0.09304	CTA		0.423	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107564349	G	T	107564349	3	4	417	1	0	0	0	0	1	0	0	0	28	991	35	4	2169	4	ABCA1	9	107564349	Missense_Mutation	SNP	G	TCGA-BP-5008-01A-01D-1462-08	86259478	107564349	33649082	17	22722											
SLC29A3	55315	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73111405	73111405	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr10:73111405C>G	ENST00000373189.5	+	4	522	c.470C>G	c.(469-471)aCt>aGt	p.T157S		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	157					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)	p.T157S(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						AAGGTGGACACTTCCTCCTGG	0.577																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)											1	Substitution - Missense(1)	kidney(1)											221	162	182					10																	73111405		2203	4300	6503	SO:0001583	missense	55315			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.470C>G	10.37:g.73111405C>G	ENSP00000362285:p.Thr157Ser		B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926792	0.73327	.	.	ENSG00000198246	ENST00000373189	T	0.58358	0.34	5.53	4.6	0.57074	.	0.232262	0.45867	D	0.000337	T	0.49440	0.1557	L	0.56280	1.765	0.41341	D	0.987304	P	0.34462	0.454	B	0.37601	0.254	T	0.57435	-0.7812	9	0.21014	T	0.42	-44.3286	14.1649	0.65471	0.15:0.8499:0.0:0.0	.	157	Q9BZD2	S29A3_HUMAN	S	157	ENSP00000362285:T157S	ENSP00000362285:T157S	T	+	2	0	SLC29A3	72781411	1.000000	0.71417	0.975000	0.42487	0.852000	0.48524	3.688000	0.54699	1.430000	0.47334	0.555000	0.69702	ACT		0.577	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		G	73111405	C	G	73111405	3	3	417	1	0	0	0	0	1	0	0	0	14542	565	20	4	484	4	SLC29A3	10	73111405	Missense_Mutation	SNP	C	TCGA-BP-5008-01A-01D-1462-08		73111405	62423342	18	22723											
MYST4	23522	broad.mit.edu	37	10	76789332	76789332	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr10:76789332A>T	ENST00000287239.4	+	18	5239	c.4750A>T	c.(4750-4752)Att>Ttt	p.I1584F	KAT6B_ENST00000372725.1_Missense_Mutation_p.I1292F|KAT6B_ENST00000372724.1_Missense_Mutation_p.I1292F|KAT6B_ENST00000372711.1_Missense_Mutation_p.I1401F|KAT6B_ENST00000372714.1_Missense_Mutation_p.I1292F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1584	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I1584F(1)									AAGTCCACAGATTGCCACCAC	0.567																																																1	Substitution - Missense(1)	kidney(1)											119	110	113					10																	76789332		2203	4300	6503	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4750A>T	10.37:g.76789332A>T	ENSP00000287239:p.Ile1584Phe		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	6.115	0.389534	0.11581	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78364	-1.16;-1.16;-1.17;-1.16;-1.16	4.77	3.63	0.41609	.	0.000000	0.50627	D	0.000110	T	0.79323	0.4426	L	0.40543	1.245	0.42164	D	0.991614	P;D;B	0.53462	0.902;0.96;0.417	P;D;B	0.66979	0.602;0.948;0.15	T	0.76252	-0.3027	10	0.44086	T	0.13	-1.9108	6.4274	0.21778	0.7613:0.1574:0.0813:0.0	.	1401;1292;1584	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	F	1292;1292;1584;1292;1401	ENSP00000361810:I1292F;ENSP00000361809:I1292F;ENSP00000287239:I1584F;ENSP00000361799:I1292F;ENSP00000361796:I1401F	ENSP00000287239:I1584F	I	+	1	0	KAT6B	76459338	1.000000	0.71417	0.573000	0.28510	0.309000	0.27889	2.818000	0.48041	0.681000	0.31386	-0.371000	0.07208	ATT		0.567	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		T	76789332	A	T	76789332	3	4	417	1	0	0	0	0	1	0	0	0	10107	333	12	5	4812	5	MYST4	10	76789332	Missense_Mutation	SNP	A	TCGA-BP-5008-01A-01D-1462-08	3677927	76789332	58745415	19	22724											
BTAF1	9044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93695500	93695500	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr10:93695500A>T	ENST00000265990.6	+	2	409	c.101A>T	c.(100-102)aAg>aTg	p.K34M		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	34					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K34M(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGTGGTGAAGCTTCATCCC	0.358																																																1	Substitution - Missense(1)	kidney(1)											119	107	111					10																	93695500		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.101A>T	10.37:g.93695500A>T	ENSP00000265990:p.Lys34Met		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190636	0.78789	.	.	ENSG00000095564	ENST00000265990	T	0.67698	-0.28	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.87487	0.2424	10	0.87932	D	0	-1.8126	15.2191	0.73296	1.0:0.0:0.0:0.0	.	34	O14981	BTAF1_HUMAN	M	34	ENSP00000265990:K34M	ENSP00000265990:K34M	K	+	2	0	BTAF1	93685480	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.475000	0.81041	2.052000	0.61016	0.533000	0.62120	AAG		0.358	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		T	93695500	A	T	93695500	3	4	417	1	0	0	0	0	1	0	0	0	1538	72	3	5	107	5	BTAF1	10	93695500	Missense_Mutation	SNP	A	TCGA-BP-5008-01A-01D-1462-08	16906168	93695500	41839247	20	22725											
LOXL4	84171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	100015482	100015482	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr10:100015482C>G	ENST00000260702.3	-	10	1593	c.1443G>C	c.(1441-1443)tgG>tgC	p.W481C	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	481	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.W481C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCGTCCCCGACCAGAACCAGG	0.632																																																1	Substitution - Missense(1)	kidney(1)											60	53	55					10																	100015482		2203	4300	6503	SO:0001583	missense	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1443G>C	10.37:g.100015482C>G	ENSP00000260702:p.Trp481Cys		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922194	0.52653	.	.	ENSG00000138131	ENST00000260702	T	0.28454	1.61	5.25	5.25	0.73442	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64462	-0.6402	10	0.87932	D	0	.	18.8572	0.92257	0.0:1.0:0.0:0.0	.	481	Q96JB6	LOXL4_HUMAN	C	481	ENSP00000260702:W481C	ENSP00000260702:W481C	W	-	3	0	LOXL4	100005472	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	5.920000	0.70017	2.456000	0.83038	0.561000	0.74099	TGG		0.632	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		G	100015482	C	G	100015482	3	3	417	1	0	0	0	0	1	0	0	0	8904	508	18	4	851	4	LOXL4	10	100015482	Missense_Mutation	SNP	C	TCGA-BP-5008-01A-01D-1462-08	6319982	100015482	35519265	21	22726											
SLCO1B1	10599	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21353532	21353532	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr12:21353532G>A	ENST00000256958.2	+	9	1157	c.1061G>A	c.(1060-1062)gGt>gAt	p.G354D		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	354					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G354D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	AGCTATATTGGTGCTTTTACT	0.348																																																1	Substitution - Missense(1)	kidney(1)											114	105	108					12																	21353532		2202	4298	6500	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1061G>A	12.37:g.21353532G>A	ENSP00000256958:p.Gly354Asp		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632357	0.46944	.	.	ENSG00000134538	ENST00000256958	T	0.61859	0.07	3.34	3.34	0.38264	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.053610	0.85682	D	0.000000	T	0.80396	0.4615	H	0.94222	3.51	0.36769	D	0.883675	D	0.62365	0.991	D	0.72625	0.978	D	0.87724	0.2575	10	0.87932	D	0	.	12.0129	0.53297	0.0:0.0:1.0:0.0	.	354	Q9Y6L6	SO1B1_HUMAN	D	354	ENSP00000256958:G354D	ENSP00000256958:G354D	G	+	2	0	SLCO1B1	21244799	1.000000	0.71417	0.313000	0.25210	0.079000	0.17450	3.995000	0.57001	1.846000	0.53633	0.491000	0.48974	GGT		0.348	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		A	21353532	G	A	21353532	3	1	417	1	0	0	0	0	1	0	0	0	14729	1261	44	2	1091	2	SLCO1B1	12	21353532	Missense_Mutation	SNP	G	TCGA-BP-5008-01A-01D-1462-08		21353532	112498363	22	22727											
C12orf10	60314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53700821	53700822	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr12:53700821_53700822GC>AA	ENST00000267103.5	+	7	1071_1072	c.1019_1020GC>AA	c.(1018-1020)tGC>tAA	p.C340*	C12orf10_ENST00000549488.1_Nonsense_Mutation_p.C177*|AAAS_ENST00000549983.1_5'Flank|C12orf10_ENST00000548632.1_Nonsense_Mutation_p.C265*	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	340					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.C340>?(1)|p.C340Y(1)|p.C340*(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						ATCCCTGGCTGCATCTTCGTCC	0.663																																																3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex(1)	kidney(3)																																								SO:0001587	stop_gained	60314			AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	Exception_encountered	12.37:g.53700821_53700822delinsAA	ENSP00000267103:p.Cys340*			Missense_Mutation|Nonsense_Mutation	SNP	ENST00000267103.5	37	CCDS31810.1																																																																																				0.663	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		AA	53700822	GC	AA	53700821	4	1	417	1	0	0	0	0	0	1	0	0	1676	1319	46	2	1045	2	C12orf10	12	53700821	Nonsense_Mutation	DNP	GC	TCGA-BP-5008-01A-01D-1462-08	32347289	53700821	80151074	23	22728											
CS	1431	broad.mit.edu;hgsc.bcm.edu	37	12	56669791	56669791	+	Silent	SNP	G	G	A	rs146737473		TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr12:56669791G>A	ENST00000351328.3	-	7	967	c.777C>T	c.(775-777)ctC>ctT	p.L259L	CS_ENST00000548567.1_Silent_p.L193L|CS_ENST00000542324.2_Silent_p.L246L	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	259					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)	p.L259L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TGTGGATGGTGAGGTACAGGC	0.463																																																1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	119	104	109		777	4.5	1	12	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CS	NM_004077.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		259/467	56669791	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1431				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.777C>T	12.37:g.56669791G>A			Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Silent	SNP	ENST00000351328.3	37	CCDS8913.1																																																																																				0.463	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		A	56669791	G	A	56669791	2	1	417	1	0	0	0	0	0	0	0	1	3926	1277	45	2		2	CS	12	56669791	Silent	SNP	G	TCGA-BP-5008-01A-01D-1462-08	2968970	56669791	77182104	24	22729											
DIAPH3	81624	broad.mit.edu;hgsc.bcm.edu	37	13	60584726	60584726	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr13:60584726A>T	ENST00000400324.4	-	8	1069	c.849T>A	c.(847-849)aaT>aaA	p.N283K	DIAPH3_ENST00000400319.1_Missense_Mutation_p.N213K|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000377908.2_Missense_Mutation_p.N272K|DIAPH3_ENST00000400320.1_Missense_Mutation_p.N237K|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3_ENST00000267215.4_Missense_Mutation_p.N283K|DIAPH3_ENST00000400330.1_Missense_Mutation_p.N283K	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	283	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N283K(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGTCATCATATTGGGGTGTC	0.378																																																1	Substitution - Missense(1)	kidney(1)											51	53	52					13																	60584726		1866	4107	5973	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.849T>A	13.37:g.60584726A>T	ENSP00000383178:p.Asn283Lys		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	A	7.435	0.639433	0.14386	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.81	-4.62	0.03370	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.910122	0.09609	N	0.779100	T	0.79770	0.4503	L	0.39898	1.24	0.09310	N	0.999998	B;B;B;B;B	0.30584	0.286;0.219;0.219;0.183;0.056	B;B;B;B;B	0.32928	0.155;0.155;0.155;0.062;0.05	T	0.65651	-0.6116	10	0.02654	T	1	.	11.2097	0.48790	0.2743:0.0:0.6237:0.102	.	213;237;272;20;283	A8MYX0;C9JL55;C9JDG1;Q9NSV4-1;Q9NSV4	.;.;.;.;DIAP3_HUMAN	K	283;283;272;237;213;272;213;237;283;20;283	ENSP00000383178:N283K;ENSP00000383184:N283K;ENSP00000367141:N272K;ENSP00000383173:N213K;ENSP00000383174:N237K;ENSP00000267215:N283K	ENSP00000267214:N20K	N	-	3	2	DIAPH3	59482727	0.008000	0.16893	0.002000	0.10522	0.470000	0.32858	0.144000	0.16135	-1.063000	0.03177	-0.326000	0.08463	AAT		0.378	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		T	60584726	A	T	60584726	3	4	417	1	0	0	0	0	1	0	0	0	4522	446	16	5	2836	5	DIAPH3	13	60584726	Missense_Mutation	SNP	A	TCGA-BP-5008-01A-01D-1462-08		60584726	54585152	25	22730											
RALGAPA1	253959	broad.mit.edu;hgsc.bcm.edu	37	14	36133906	36133906	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr14:36133906A>G	ENST00000389698.3	-	26	4142	c.3752T>C	c.(3751-3753)cTg>cCg	p.L1251P	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.L1264P|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.L1251P|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.L1298P	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1251					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L1251P(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGAGAAGGCAGTTCACAATA	0.338																																																2	Substitution - Missense(2)	kidney(2)											68	68	68					14																	36133906		2203	4297	6500	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3752T>C	14.37:g.36133906A>G	ENSP00000374348:p.Leu1251Pro		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447287	0.84101	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.83	5.83	0.93111	.	0.065893	0.64402	D	0.000009	T	0.81564	0.4849	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.997	D;D;D;D	0.91635	0.999;0.963;0.988;0.921	T	0.83076	-0.0140	10	0.72032	D	0.01	-5.4169	16.2005	0.82071	1.0:0.0:0.0:0.0	.	1298;1264;1251;1251	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	P	1251;1251;1251;1298;1264;1298	ENSP00000374348:L1251P;ENSP00000302647:L1251P;ENSP00000258840:L1298P;ENSP00000371803:L1264P;ENSP00000451877:L1298P	ENSP00000258840:L1298P	L	-	2	0	RALGAPA1	35203657	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.108000	0.94275	2.231000	0.72958	0.455000	0.32223	CTG		0.338	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		G	36133906	A	G	36133906	3	3	417	1	0	0	0	0	1	0	0	0	13019	188	7	3	2571	3	RALGAPA1	14	36133906	Missense_Mutation	SNP	A	TCGA-BP-5008-01A-01D-1462-08		36133906	71215634	26	22731											
HAGH	3029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1866929	1866929	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr16:1866929T>C	ENST00000397356.3	-	7	1118	c.712A>G	c.(712-714)Aat>Gat	p.N238D	HAGH_ENST00000397353.2_Missense_Mutation_p.N190D|HAGH_ENST00000566709.1_Missense_Mutation_p.N190D|HAGH_ENST00000455446.2_Silent_p.A201A	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	238					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)	p.N190D(1)		kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	ATGGCGGCATTGCCGGGCTCC	0.642																																					Pancreas(55;1048 1176 25227 40124 41333)											1	Substitution - Missense(1)	kidney(1)											89	75	80					16																	1866929		2199	4300	6499	SO:0001583	missense	3029			X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.712A>G	16.37:g.1866929T>C	ENSP00000380514:p.Asn238Asp		A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741653	0.69304	.	.	ENSG00000063854	ENST00000397356;ENST00000397353	D;D	0.95788	-3.81;-3.81	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	D	0.98440	1.0586	10	0.87932	D	0	.	13.849	0.63485	0.0:0.0:0.0:1.0	.	190;238	Q16775-2;Q16775	.;GLO2_HUMAN	D	238;190	ENSP00000380514:N238D;ENSP00000380511:N190D	ENSP00000380511:N190D	N	-	1	0	HAGH	1806930	1.000000	0.71417	0.095000	0.20976	0.315000	0.28087	7.603000	0.82811	1.876000	0.54355	0.533000	0.62120	AAT		0.642	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		C	1866929	T	C	1866929	3	2	417	1	0	0	0	0	1	0	0	0	6947	1812	63	3	226	3	HAGH	16	1866929	Missense_Mutation	SNP	T	TCGA-BP-5008-01A-01D-1462-08		1866929	88487824	27	22732											
ACSM3	6296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20796410	20796410	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr16:20796410G>T	ENST00000289416.5	+	8	1599	c.1124G>T	c.(1123-1125)gGa>gTa	p.G375V	ACSM3_ENST00000440284.2_Missense_Mutation_p.G375V|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|RNU6-944P_ENST00000364023.1_RNA|ACSM3_ENST00000450120.2_Missense_Mutation_p.G367V	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	375					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.G375V(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATCTACGAAGGATATGGACAG	0.428																																																2	Substitution - Missense(2)	kidney(2)											134	118	124					16																	20796410		2201	4300	6501	SO:0001583	missense	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1124G>T	16.37:g.20796410G>T	ENSP00000289416:p.Gly375Val		O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271931	0.80469	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.47177	0.85;0.85;0.85	5.34	5.34	0.76211	AMP-dependent synthetase/ligase (1);	0.060811	0.64402	D	0.000005	T	0.67795	0.2931	M	0.83384	2.64	0.80722	D	1	P;P;D	0.54047	0.833;0.932;0.964	P;P;P	0.55577	0.6;0.708;0.779	T	0.71237	-0.4652	10	0.52906	T	0.07	-40.131	19.3973	0.94612	0.0:0.0:1.0:0.0	.	367;375;375	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	V	375;375;367	ENSP00000289416:G375V;ENSP00000394565:G375V;ENSP00000395297:G367V	ENSP00000289416:G375V	G	+	2	0	ACSM3	20703911	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.123000	0.64703	2.660000	0.90430	0.655000	0.94253	GGA		0.428	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		T	20796410	G	T	20796410	3	4	417	1	0	0	0	0	1	0	0	0	185	1174	41	4	1150	4	ACSM3	16	20796410	Missense_Mutation	SNP	G	TCGA-BP-5008-01A-01D-1462-08	18929481	20796410	69558343	28	22733											
FAM108A1	81926	broad.mit.edu	37	19	1881411	1881411	+	Missense_Mutation	SNP	G	G	T	rs532663864		TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr19:1881411G>T	ENST00000292577.7	-	2	588	c.155C>A	c.(154-156)cCc>cAc	p.P52H	ABHD17A_ENST00000590661.1_Missense_Mutation_p.P52H|ABHD17A_ENST00000250974.9_Missense_Mutation_p.P52H	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	52						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.P52H(1)									GGTCCCCAAGGGGGCGGCCCC	0.746																																																1	Substitution - Missense(1)	kidney(1)											8	11	10					19																	1881411		1876	3937	5813	SO:0001583	missense	81926			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.155C>A	19.37:g.1881411G>T	ENSP00000292577:p.Pro52His		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	ENST00000292577.7	37	CCDS45902.1	.	.	.	.	.	.	.	.	.	.	g	11.38	1.620433	0.28801	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.32023	1.47;1.52	3.69	3.69	0.42338	.	0.866127	0.10186	N	0.705218	T	0.42131	0.1189	L	0.46157	1.445	0.09310	N	1	P;P;P;P	0.44195	0.571;0.828;0.474;0.824	B;P;B;P	0.56127	0.264;0.792;0.333;0.621	T	0.18524	-1.0334	10	0.54805	T	0.06	-41.7049	8.6941	0.34284	0.0:0.0:0.7728:0.2272	.	52;52;52;52	Q96GS6;Q96GS6-2;Q96GS6-3;Q96GS6-4	F18A1_HUMAN;.;.;.	H	52	ENSP00000250974:P52H;ENSP00000292577:P52H	ENSP00000250974:P52H	P	-	2	0	FAM108A1	1832411	0.001000	0.12720	0.213000	0.23690	0.176000	0.22953	1.102000	0.31050	2.071000	0.62044	0.561000	0.74099	CCC		0.746	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		T	1881411	G	T	1881411	3	4	417	1	0	0	0	0	1	0	0	0	5393	1232	43	4	950	4	FAM108A1	19	1881411	Missense_Mutation	SNP	G	TCGA-BP-5008-01A-01D-1462-08		1881411	57247572	29	22734											
DAPK3	1613	hgsc.bcm.edu	37	19	3964978	3964984	+	Frame_Shift_Del	DEL	GCAAACT	GCAAACT	-			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	GCAAACT	GCAAACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr19:3964978_3964984delGCAAACT	ENST00000545797.2	-	3	311_317	c.68_74delAGTTTGC	c.(67-75)cagtttgcgfs	p.QFA23fs	DAPK3_ENST00000301264.3_Frame_Shift_Del_p.QFA23fs			O43293	DAPK3_HUMAN	death-associated protein kinase 3	23	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCACGATCGCAAACTGGCCGCtgga	0.671																																																0																																										SO:0001589	frameshift_variant	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.68_74delAGTTTGC	19.37:g.3964978_3964984delGCAAACT	ENSP00000442973:p.Gln23fs		A0AVN4|B3KQE2|Q05JY4	Frame_Shift_Del	DEL	ENST00000545797.2	37	CCDS12116.1																																																																																				0.671	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		-	3964984	GCAAACT	-	3964978	7	5	417	1	0	1	0	1	0	0	0	0	4239	1087	38	0	1318	0	DAPK3	19	3964978	Frame_Shift_Del	DEL	GCAAACT	TCGA-BP-5008-01A-01D-1462-08	2083567	3964978	55164005	30	22735											
PRODH2	58510	broad.mit.edu	37	19	36304176	36304176	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr19:36304176G>T	ENST00000301175.3	-	1	25	c.8C>A	c.(7-9)cCc>cAc	p.P3H		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	3					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.P3H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			gactaccctgggcgacatagt	0.463																																																1	Substitution - Missense(1)	kidney(1)											38	34	35					19																	36304176		2196	4288	6484	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.8C>A	19.37:g.36304176G>T	ENSP00000301175:p.Pro3His			Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	3.455	-0.111270	0.06881	.	.	ENSG00000250799	ENST00000301175	T	0.07327	3.2	0.36	-0.721	0.11189	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	P	0.48834	0.916	B	0.28553	0.091	T	0.42032	-0.9475	8	0.87932	D	0	.	.	.	.	.	3	Q9UF12	PROD2_HUMAN	H	3	ENSP00000301175:P3H	ENSP00000301175:P3H	P	-	2	0	PRODH2	40996016	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-0.387000	0.07809	-0.385000	0.06624	CCC		0.463	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		T	36304176	G	T	36304176	3	4	417	1	0	0	0	0	1	0	0	0	12554	1232	43	4	1646	4	PRODH2	19	36304176	Missense_Mutation	SNP	G	TCGA-BP-5008-01A-01D-1462-08	32339198	36304176	22824807	31	22736											
DHX35	60625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37632409	37632409	+	Silent	SNP	T	T	A			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr20:37632409T>A	ENST00000252011.3	+	11	903	c.870T>A	c.(868-870)gtT>gtA	p.V290V	DHX35_ENST00000373325.2_Silent_p.V290V|DHX35_ENST00000373323.4_Silent_p.V259V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	290	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.V290V(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TAGAAACTGTTGTGTCGATGC	0.448																																																1	Substitution - coding silent(1)	kidney(1)											145	137	140					20																	37632409		2203	4300	6503	SO:0001819	synonymous_variant	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.870T>A	20.37:g.37632409T>A			A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	CCDS13310.1																																																																																				0.448	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		A	37632409	T	A	37632409	2	1	417	1	0	0	0	0	0	0	0	1	4510	1799	63	5		5	DHX35	20	37632409	Silent	SNP	T	TCGA-BP-5008-01A-01D-1462-08		37632409	25393111	32	22737											
CECR2	27443	broad.mit.edu	37	22	18021869	18021869	+	Silent	SNP	C	C	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr22:18021869C>T	ENST00000400585.2	+	16	1986	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	CECR2_ENST00000400573.5_Silent_p.L657L|CECR2_ENST00000262608.8_Silent_p.L658L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	699	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.L657L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TTAACAGCCTCCGAGGACCCA	0.547																																																1	Substitution - coding silent(1)	kidney(1)											33	33	33					22																	18021869		1971	4160	6131	SO:0001819	synonymous_variant	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1548C>T	22.37:g.18021869C>T			A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37																																																																																					0.547	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		T	18021869	C	T	18021869	2	4	417	1	0	0	0	0	0	0	0	1	3208	842	30	2		2	CECR2	22	18021869	Silent	SNP	C	TCGA-BP-5008-01A-01D-1462-08		18021869	33282697	33	22738											
CELSR1	9620	hgsc.bcm.edu;ucsc.edu	37	22	46930036	46930036	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr22:46930036delT	ENST00000262738.3	-	1	3031	c.3032delA	c.(3031-3033)aacfs	p.N1012fs	CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Frame_Shift_Del_p.N1012fs	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1012	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CACTGGGTTGTTCTCCTCAAC	0.522																																																0													98	98	98					22																	46930036		2203	4300	6503	SO:0001589	frameshift_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3032delA	22.37:g.46930036delT	ENSP00000262738:p.Asn1012fs		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Del	DEL	ENST00000262738.3	37	CCDS14076.1																																																																																				0.522	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		-	46930036	T	-	46930036	7	5	417	1	0	1	0	1	0	0	0	0	3223	1725	60	0	6152	0	CELSR1	22	46930036	Frame_Shift_Del	DEL	T	TCGA-BP-5008-01A-01D-1462-08	28908167	46930036	4374530	34	22739											
CLCN5	1184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	49840554	49840554	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chrX:49840554A>G	ENST00000307367.2	+	4	601	c.310A>G	c.(310-312)Aac>Gac	p.N104D	CLCN5_ENST00000376091.3_Missense_Mutation_p.N174D|CLCN5_ENST00000376088.3_Missense_Mutation_p.N174D|CLCN5_ENST00000376108.3_Missense_Mutation_p.N104D			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	104					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.N104D(1)|p.N174D(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TTGTTGCTGGAACTCTGAGCA	0.428																																																2	Substitution - Missense(2)	kidney(2)											161	133	143					X																	49840554		2203	4300	6503	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.310A>G	X.37:g.49840554A>G	ENSP00000304257:p.Asn104Asp		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.984529	0.35036	.	.	ENSG00000171365	ENST00000376088;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.89415	-2.51;-2.51;-2.5;-2.5	5.0	2.59	0.31030	Chloride channel, core (1);	0.295036	0.36740	N	0.002432	T	0.77778	0.4181	N	0.16602	0.42	0.36186	D	0.849766	B;B	0.22146	0.0;0.065	B;B	0.19946	0.001;0.027	T	0.70425	-0.4875	10	0.48119	T	0.1	-12.1912	7.0805	0.25229	0.7263:0.0:0.2737:0.0	.	104;174	P51795;P51795-2	CLCN5_HUMAN;.	D	174;174;104;104	ENSP00000365256:N174D;ENSP00000365259:N174D;ENSP00000365276:N104D;ENSP00000304257:N104D	ENSP00000304257:N104D	N	+	1	0	CLCN5	49727294	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.302000	0.59092	0.212000	0.20703	0.430000	0.28490	AAC		0.428	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			G	49840554	A	G	49840554	3	3	417	1	0	0	0	0	1	0	0	0	3468	246	9	3	538	3	CLCN5	23	49840554	Missense_Mutation	SNP	A	TCGA-BP-5008-01A-01D-1462-08		49840554	105430006	35	22740											
KLF8	11279	broad.mit.edu	37	X	56291625	56291625	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chrX:56291625G>T	ENST00000468660.1	+	3	382	c.94G>T	c.(94-96)Gtt>Ttt	p.V32F	KLF8_ENST00000374928.3_Missense_Mutation_p.V32F	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V32F(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CACTGCTTCTGTTCGGAACAG	0.398																																																1	Substitution - Missense(1)	kidney(1)											30	26	28					X																	56291625		2203	4300	6503	SO:0001583	missense	11279			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.94G>T	X.37:g.56291625G>T	ENSP00000417303:p.Val32Phe		B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	9.751	1.167453	0.21621	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T	0.08282	3.11	4.47	1.67	0.24075	.	0.265226	0.26394	N	0.024637	T	0.09247	0.0228	L	0.27053	0.805	0.09310	N	0.999993	P;P;P	0.51351	0.9;0.944;0.622	P;P;B	0.53722	0.553;0.733;0.119	T	0.14643	-1.0465	10	0.87932	D	0	.	4.4479	0.11606	0.3093:0.1645:0.5262:0.0	.	32;32;32	E7EQQ8;B4DJN3;O95600	.;.;KLF8_HUMAN	F	32	ENSP00000417303:V32F	ENSP00000431911:V32F	V	+	1	0	KLF8	56308350	0.016000	0.18221	0.087000	0.20705	0.016000	0.09150	0.387000	0.20718	0.098000	0.17522	0.594000	0.82650	GTT		0.398	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		T	56291625	G	T	56291625	3	4	417	1	0	0	0	0	1	0	0	0	8354	1377	48	4	104	4	KLF8	23	56291625	Missense_Mutation	SNP	G	TCGA-BP-5008-01A-01D-1462-08	6451071	56291625	98978935	36	22741											
SLC30A2	7780	broad.mit.edu;hgsc.bcm.edu	37	1	26370857	26370857	+	Intron	SNP	C	C	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:26370857C>G	ENST00000374278.3	-	2	488				SLC30A2_ENST00000374276.3_Missense_Mutation_p.S117T|SLC30A2_ENST00000498060.1_5'UTR	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2						positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)	p.S117T(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGAAGAGGCTGATGAGCAT	0.587																																																1	Substitution - Missense(1)	kidney(1)											92	75	81					1																	26370857		2203	4300	6503	SO:0001627	intron_variant	7780			AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"Solute carriers"	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.271+630G>C	1.37:g.26370857C>G			Q71RC8	Missense_Mutation	SNP	ENST00000374278.3	37	CCDS272.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584020	0.86748	.	.	ENSG00000158014	ENST00000374276	T	0.63096	-0.02	5.72	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.78553	0.4301	M	0.77313	2.365	0.58432	D	0.999999	D	0.76494	0.999	D	0.72075	0.976	T	0.80600	-0.1310	10	0.52906	T	0.07	-21.0455	14.7854	0.69800	0.1456:0.8544:0.0:0.0	.	117	Q9BRI3-2	.	T	117	ENSP00000363394:S117T	ENSP00000363394:S117T	S	-	2	0	SLC30A2	26243444	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.770000	0.85390	1.369000	0.46134	0.655000	0.94253	AGC		0.587	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		G	26370857	C	G	26370857	1	3	418	0	1	0	0	0	0	0	0	0	14561	797	28	4		4	SLC30A2	1	26370857	Intron	SNP	C	TCGA-BP-5009-01A-01D-1462-08		26370857	222879764	1	22742											
JUN	3725	hgsc.bcm.edu	37	1	59248076	59248076	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:59248076G>C	ENST00000371222.2	-	1	1709	c.667C>G	c.(667-669)Cag>Gag	p.Q223E	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	223					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	TTCAGGGCCTGCAGCCGCGGG	0.716			A		sarcoma																																		Dom	yes		1	1p32-p31	3725	jun oncogene		M	0													17	20	19					1																	59248076		2173	4265	6438	SO:0001583	missense	3725			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.667C>G	1.37:g.59248076G>C	ENSP00000360266:p.Gln223Glu		Q6FHM7|Q96G93	Missense_Mutation	SNP	ENST00000371222.2	37	CCDS610.1	.	.	.	.	.	.	.	.	.	.	G	8.185	0.794638	0.16327	.	.	ENSG00000177606	ENST00000371222	T	0.29655	1.56	4.05	4.05	0.47172	Jun-like transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.363846	0.26220	U	0.025632	T	0.37046	0.0989	M	0.72118	2.19	0.46798	D	0.999203	B	0.32862	0.387	B	0.41135	0.348	T	0.23476	-1.0187	10	0.06099	T	0.92	1.8893	16.4242	0.83809	0.0:0.0:1.0:0.0	.	223	P05412	JUN_HUMAN	E	223	ENSP00000360266:Q223E	ENSP00000360266:Q223E	Q	-	1	0	JUN	59020664	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.040000	0.64191	2.098000	0.63641	0.561000	0.74099	CAG		0.716	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		C	59248076	G	C	59248076	3	2	418	1	0	0	0	0	1	0	0	0	7971	1328	46	4	332	4	JUN	1	59248076	Missense_Mutation	SNP	G	TCGA-BP-5009-01A-01D-1462-08	32877219	59248076	190002545	2	22743											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201030579	201030579	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:201030579A>T	ENST00000362061.3	-	25	3297	c.3071T>A	c.(3070-3072)aTa>aAa	p.I1024K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I1024K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1024	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I1024K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATTGGAGTCTATGGCCTTGTA	0.542																																																1	Substitution - Missense(1)	kidney(1)											120	108	112					1																	201030579		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3071T>A	1.37:g.201030579A>T	ENSP00000355192:p.Ile1024Lys		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.538314	0.85917	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98617	-5.03;-5.03	5.21	5.21	0.72293	Ion transport (1);	0.043838	0.85682	D	0.000000	D	0.99318	0.9761	M	0.94063	3.49	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.98839	1.0754	10	0.87932	D	0	.	15.3483	0.74359	1.0:0.0:0.0:0.0	.	1024	Q13698	CAC1S_HUMAN	K	1024	ENSP00000355192:I1024K;ENSP00000356307:I1024K	ENSP00000355192:I1024K	I	-	2	0	CACNA1S	199297202	1.000000	0.71417	0.976000	0.42696	0.811000	0.45836	9.267000	0.95665	2.087000	0.62958	0.459000	0.35465	ATA		0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201030579	A	T	201030579	3	4	418	1	0	0	0	0	1	0	0	0	2549	449	16	5	2630	5	CACNA1S	1	201030579	Missense_Mutation	SNP	A	TCGA-BP-5009-01A-01D-1462-08	141782503	201030579	48220042	3	22744											
NAV1	89796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201687817	201687817	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:201687817C>A	ENST00000367296.4	+	3	1580	c.1160C>A	c.(1159-1161)tCc>tAc	p.S387Y	NAV1_ENST00000367300.3_Missense_Mutation_p.S387Y|NAV1_ENST00000295624.6_Missense_Mutation_p.S387Y|NAV1_ENST00000367297.4_Missense_Mutation_p.S387Y|MIR5191_ENST00000577455.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.S400Y|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	387					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S387Y(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GACCTCAAGTCCGGCTACATG	0.607																																																1	Substitution - Missense(1)	kidney(1)											126	114	118					1																	201687817		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1160C>A	1.37:g.201687817C>A	ENSP00000356265:p.Ser387Tyr		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210993	0.79240	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.58	5.58	0.84498	.	0.136380	0.50627	D	0.000110	T	0.52092	0.1713	L	0.53249	1.67	0.37343	D	0.910469	P	0.45212	0.853	P	0.51777	0.679	T	0.60209	-0.7308	10	0.87932	D	0	-20.3142	14.7457	0.69488	0.0:0.8554:0.1446:0.0	.	387	Q8NEY1-3	.	Y	400;387;387;387;387	ENSP00000356271:S400Y;ENSP00000356265:S387Y;ENSP00000295624:S387Y;ENSP00000356266:S387Y;ENSP00000356269:S387Y	ENSP00000295624:S387Y	S	+	2	0	NAV1	199954440	0.962000	0.33011	0.994000	0.49952	0.993000	0.82548	2.268000	0.43338	2.610000	0.88304	0.563000	0.77884	TCC		0.607	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		A	201687817	C	A	201687817	3	1	418	1	0	0	0	0	1	0	0	0	10185	855	30	4	1170	4	NAV1	1	201687817	Missense_Mutation	SNP	C	TCGA-BP-5009-01A-01D-1462-08	657238	201687817	47562804	4	22745											
LAMB3	3914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	209799337	209799337	+	Silent	SNP	C	C	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:209799337C>T	ENST00000356082.4	-	14	1766	c.1632G>A	c.(1630-1632)ccG>ccA	p.P544P	LAMB3_ENST00000367030.3_Silent_p.P544P|LAMB3_ENST00000391911.1_Silent_p.P544P|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	544	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.P544P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGTCGCAGCCCGGGCCCTCTG	0.627																																																1	Substitution - coding silent(1)	kidney(1)											24	29	27					1																	209799337		2203	4300	6503	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1632G>A	1.37:g.209799337C>T			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	CCDS1487.1																																																																																				0.627	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		T	209799337	C	T	209799337	2	4	418	1	0	0	0	0	0	0	0	1	8614	639	23	1		1	LAMB3	1	209799337	Silent	SNP	C	TCGA-BP-5009-01A-01D-1462-08	8111520	209799337	39451284	5	22746											
CDC42BPA	8476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227216801	227216801	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:227216801A>G	ENST00000366769.3	-	29	5175	c.3884T>C	c.(3883-3885)cTg>cCg	p.L1295P	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L1267P|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L1308P|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L1214P|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L1275P|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L1330P|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L1295P	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.L1214P(1)|p.L1330P(1)|p.L1295P(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AGTTTCTGACAGCTTGTAAAA	0.468																																																3	Substitution - Missense(3)	kidney(3)											63	52	56					1																	227216801		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3884T>C	1.37:g.227216801A>G	ENSP00000355731:p.Leu1295Pro			Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141030	0.77775	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14;3.14	5.32	5.32	0.75619	.	0.070494	0.64402	D	0.000018	T	0.28732	0.0712	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.995;0.999;0.993;0.996;0.996;0.996;0.998	D;P;D;D;D;D;D;D	0.79108	0.929;0.904;0.992;0.976;0.97;0.945;0.956;0.982	T	0.01484	-1.1343	10	0.87932	D	0	.	15.5874	0.76495	1.0:0.0:0.0:0.0	.	1275;1267;610;192;1214;1295;1330;497	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.;.	P	1295;1214;1295;1330;1267;610;1275;1308	ENSP00000355731:L1295P;ENSP00000355729:L1214P;ENSP00000335341:L1295P;ENSP00000355728:L1330P;ENSP00000355726:L1267P;ENSP00000443275:L1275P;ENSP00000355727:L1308P	ENSP00000335341:L1295P	L	-	2	0	CDC42BPA	225283424	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.153000	0.67306	0.477000	0.44152	CTG		0.468	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		G	227216801	A	G	227216801	3	3	418	1	0	0	0	0	1	0	0	0	3074	188	7	3	1307	3	CDC42BPA	1	227216801	Missense_Mutation	SNP	A	TCGA-BP-5009-01A-01D-1462-08	17417464	227216801	22033820	6	22747											
AKT3	10000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	243859016	243859016	+	Missense_Mutation	SNP	C	C	T	rs397514606		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:243859016C>T	ENST00000366539.1	-	3	249	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	AKT3_ENST00000263826.5_Missense_Mutation_p.E17K|AKT3_ENST00000366540.1_Missense_Mutation_p.E17K|AKT3_ENST00000336199.5_Missense_Mutation_p.E17K			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	17	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in MPPH2 and melanoma; results in activation of AKT). {ECO:0000269|PubMed:18813315, ECO:0000269|PubMed:22500628, ECO:0000269|PubMed:22729223}.		mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E17K(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TTTATATATTCTCCTACATGA	0.348																																																4	Substitution - Missense(4)	kidney(3)|skin(1)											62	64	64					1																	243859016		2202	4298	6500	SO:0001583	missense	10000			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"Pleckstrin homology (PH) domain containing"	393	protein-coding gene	gene with protein product	"protein kinase B, gamma"	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.49G>A	1.37:g.243859016C>T	ENSP00000355497:p.Glu17Lys		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013029	0.93346	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.66	4.75	0.60458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048205	0.85682	N	0.000000	T	0.59473	0.2196	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.64466	-0.6401	10	0.72032	D	0.01	.	14.8844	0.70557	0.0:0.931:0.0:0.069	.	17;17	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	K	17	ENSP00000336943:E17K;ENSP00000355498:E17K;ENSP00000355497:E17K;ENSP00000263826:E17K;ENSP00000447820:E17K	ENSP00000263826:E17K	E	-	1	0	AKT3	241925639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.817000	0.86213	1.535000	0.49220	0.655000	0.94253	GAA		0.348	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		T	243859016	C	T	243859016	3	4	418	1	0	0	0	0	1	0	0	0	481	922	32	2	1486	2	AKT3	1	243859016	Missense_Mutation	SNP	C	TCGA-BP-5009-01A-01D-1462-08	16642215	243859016	5391605	7	22748											
TPO	7173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1499872	1499872	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr2:1499872G>A	ENST00000345913.4	+	12	2209	c.2118G>A	c.(2116-2118)atG>atA	p.M706I	TPO_ENST00000337415.3_Missense_Mutation_p.M706I|TPO_ENST00000346956.3_Missense_Mutation_p.M706I|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.M533I|TPO_ENST00000329066.4_Missense_Mutation_p.M706I|TPO_ENST00000382201.3_Missense_Mutation_p.M649I|TPO_ENST00000349624.3_Missense_Mutation_p.M533I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	706			M -> V (in dbSNP:rs13431173).		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.M706I(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGTGCCCATGGATGCCTTCC	0.562																																																1	Substitution - Missense(1)	kidney(1)											69	64	66					2																	1499872		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2118G>A	2.37:g.1499872G>A	ENSP00000318820:p.Met706Ile		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.748|2.748	-0.260800|-0.260800	0.05791|0.05791	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607|ENST00000446278	T;T;T;T;T;T;T;T;T|.	0.68181|.	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31|.	4.52|4.52	-8.77|-8.77	0.00827|0.00827	.|.	3.908730|.	0.00357|.	N|.	0.000035|.	T|.	0.09818|.	0.0241|.	N|N	0.00621|0.00621	-1.32|-1.32	0.58432|0.58432	D|D	0.999992|0.999992	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|.	0.27468|.	-1.0073|.	10|.	0.26408|.	T|.	0.33|.	3.0E-4|3.0E-4	2.1807|2.1807	0.03874|0.03874	0.1765:0.1778:0.3898:0.2559|0.1765:0.1778:0.3898:0.2559	.|.	706;533;649;706|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	I|X	706;706;706;533;706;649;533;635;180|181	ENSP00000337263:M706I;ENSP00000318820:M706I;ENSP00000263886:M706I;ENSP00000332044:M533I;ENSP00000329869:M706I;ENSP00000371636:M649I;ENSP00000371633:M533I;ENSP00000405788:M635I;ENSP00000419461:M180I|.	ENSP00000329869:M706I|.	M|W	+|+	3|2	0|0	TPO|TPO	1478879|1478879	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-3.481000|-3.481000	0.00456|0.00456	-2.172000|-2.172000	0.00774|0.00774	-0.270000|-0.270000	0.10280|0.10280	ATG|TGG		0.562	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		A	1499872	G	A	1499872	3	1	418	1	0	0	0	0	1	0	0	0	16415	1348	47	2	2160	2	TPO	2	1499872	Missense_Mutation	SNP	G	TCGA-BP-5009-01A-01D-1462-08		1499872	241699501	8	22749											
SDC1	6382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	20403634	20403634	+	Silent	SNP	C	C	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr2:20403634C>T	ENST00000254351.4	-	3	811	c.567G>A	c.(565-567)gaG>gaA	p.E189E	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000381150.1_Silent_p.E189E	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	189					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.E189E(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CAGCAGCCCTCTCGGTGGCAG	0.612																																																1	Substitution - coding silent(1)	kidney(1)											75	74	75					2																	20403634		2203	4300	6503	SO:0001819	synonymous_variant	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.567G>A	2.37:g.20403634C>T			D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	CCDS1697.1																																																																																				0.612	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		T	20403634	C	T	20403634	2	4	418	1	0	0	0	0	0	0	0	1	13957	912	32	2		2	SDC1	2	20403634	Silent	SNP	C	TCGA-BP-5009-01A-01D-1462-08	18903762	20403634	222795739	9	22750											
GALNT14	79623	hgsc.bcm.edu;ucsc.edu	37	2	31165110	31165110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr2:31165110delC	ENST00000349752.5	-	9	1527	c.888delG	c.(886-888)gggfs	p.G296fs	GALNT14_ENST00000324589.5_Frame_Shift_Del_p.G301fs|GALNT14_ENST00000356174.3_Frame_Shift_Del_p.G263fs|GALNT14_ENST00000406653.1_Frame_Shift_Del_p.G276fs|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Frame_Shift_Del_p.G261fs	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	296	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TATCATATTTCCCCAGGTAAT	0.493																																																0													145	132	136					2																	31165110		2203	4300	6503	SO:0001589	frameshift_variant	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.888delG	2.37:g.31165110delC	ENSP00000288988:p.Gly296fs		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Frame_Shift_Del	DEL	ENST00000349752.5	37	CCDS1773.2																																																																																				0.493	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		-	31165110	C	-	31165110	7	5	418	1	0	1	0	1	0	0	0	0	6214	842	30	0	798	0	GALNT14	2	31165110	Frame_Shift_Del	DEL	C	TCGA-BP-5009-01A-01D-1462-08	10761476	31165110	212034263	10	22751											
FN1	2335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	216245654	216245654	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr2:216245654C>G	ENST00000359671.1	-	32	5306	c.5041G>C	c.(5041-5043)Gat>Cat	p.D1681H	FN1_ENST00000490833.1_5'UTR|FN1_ENST00000336916.4_Missense_Mutation_p.D1681H|FN1_ENST00000346544.3_Missense_Mutation_p.D1681H|FN1_ENST00000357009.2_Missense_Mutation_p.D1681H|FN1_ENST00000421182.1_Intron|FN1_ENST00000345488.5_Missense_Mutation_p.D1681H|FN1_ENST00000446046.1_Missense_Mutation_p.D1681H|FN1_ENST00000443816.1_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000354785.4_Missense_Mutation_p.D1772H|FN1_ENST00000323926.6_Missense_Mutation_p.D1772H|FN1_ENST00000357867.4_Intron|FN1_ENST00000432072.2_Intron			P02751	FINC_HUMAN	fibronectin 1	1681	Fibronectin type-III 12; extra domain. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.D1681H(1)|p.D1772H(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCTTCACCATCAGGTGCAGGG	0.542																																																2	Substitution - Missense(2)	kidney(2)											116	106	110					2																	216245654		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5041G>C	2.37:g.216245654C>G	ENSP00000352696:p.Asp1681His		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	16.15	3.041010	0.55003	.	.	ENSG00000115414	ENST00000323926;ENST00000336916;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046	T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	6.03	6.03	0.97812	.	0.231334	0.37761	N	0.001947	T	0.61825	0.2378	N	0.17872	0.535	0.38677	D	0.952455	D;B;D;B;D;D	0.71674	0.998;0.002;0.997;0.018;0.995;0.984	D;B;D;B;D;P	0.80764	0.994;0.014;0.972;0.021;0.934;0.894	T	0.63444	-0.6636	10	0.45353	T	0.12	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1681;1772;1681;1681;1682;1772	F8W7G7;P02751-7;E9PE77;P02751-3;E7ERA1;P02751-15	.;.;.;.;.;.	H	1772;1681;1772;1682;1681;1681;1681;1681;1681	ENSP00000323534:D1772H;ENSP00000338200:D1681H;ENSP00000346839:D1772H;ENSP00000352696:D1681H;ENSP00000265312:D1681H;ENSP00000273049:D1681H;ENSP00000349509:D1681H;ENSP00000410422:D1681H	ENSP00000265313:D1682H	D	-	1	0	FN1	215953899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.700000	0.54786	2.854000	0.98071	0.655000	0.94253	GAT		0.542	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		G	216245654	C	G	216245654	3	3	418	1	0	0	0	0	1	0	0	0	5964	826	29	4	2175	4	FN1	2	216245654	Missense_Mutation	SNP	C	TCGA-BP-5009-01A-01D-1462-08	185080544	216245654	26953719	11	22752											
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183763	10183763	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq;PacBio			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr3:10183763A>T	ENST00000256474.2	+	1	1072	c.232A>T	c.(232-234)Aat>Tat	p.N78Y	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.N78Y	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	78			N -> H (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|N -> S (in VHLD; type I; common mutation; dbSNP:rs5030804). {ECO:0000269|PubMed:8956040}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N78D(3)|p.F76fs*80(2)|p.F76fs*81(2)|p.N78Y(2)|p.N78H(2)|p.S72_V87>L(1)|p.C77_N78>Y(1)|p.R60fs*35(1)|p.V74fs*51(1)|p.C77fs*53(1)|p.V74fs*77(1)|p.N78fs*54(1)|p.C77_R79del(1)|p.N78fs*53(1)|p.C77*(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CATCTTCTGCAATCGCAGTCC	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	21	Deletion - Frameshift(8)|Substitution - Missense(7)|Complex - frameshift(2)|Complex - deletion inframe(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(19)|soft_tissue(2)	GRCh37	CM941365	VHL	M							12	15	14					3																	10183763		2175	4240	6415	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.232A>T	3.37:g.10183763A>T	ENSP00000256474:p.Asn78Tyr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	33	5.203176	0.95033	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99960	-9.2;-9.2	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.043720	0.85682	D	0.000000	D	0.99955	0.9981	M	0.84773	2.715	0.46774	D	0.999198	D;D	0.89917	1.0;1.0	D;D	0.80764	0.982;0.994	D	0.94777	0.7950	10	0.87932	D	0	-4.0134	13.5016	0.61459	1.0:0.0:0.0:0.0	.	78;78	P40337-2;P40337	.;VHL_HUMAN	Y	78	ENSP00000256474:N78Y;ENSP00000344757:N78Y	ENSP00000256474:N78Y	N	+	1	0	VHL	10158763	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.728000	0.68531	2.069000	0.61940	0.450000	0.29827	AAT		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183763	A	T	10183763	3	4	418	1	0	0	0	0	1	0	0	0	17167	130	5	5	234	5	VHL	3	10183763	Missense_Mutation	SNP	A	TCGA-BP-5009-01A-01D-1462-08		10183763	187838667	12	22753											
CELSR3	1951	broad.mit.edu	37	3	48682540	48682540	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr3:48682540G>A	ENST00000164024.4	-	25	8180	c.7900C>T	c.(7900-7902)Cca>Tca	p.P2634S	CELSR3_ENST00000544264.1_Missense_Mutation_p.P2639S|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2634					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P2634S(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGTTGCGTGGCTCAACCTGC	0.652																																																1	Substitution - Missense(1)	kidney(1)											54	52	53					3																	48682540		2202	4300	6502	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7900C>T	3.37:g.48682540G>A	ENSP00000164024:p.Pro2634Ser		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744461	0.49151	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.60920	0.15;0.15	5.24	4.35	0.52113	GPCR, family 2-like (1);	.	.	.	.	T	0.44052	0.1275	N	0.13198	0.31	0.28638	N	0.907295	B;B	0.30146	0.131;0.27	B;B	0.34931	0.145;0.192	T	0.44711	-0.9310	9	0.49607	T	0.09	.	12.3393	0.55085	0.0:0.432:0.568:0.0	.	2634;2731	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	2634;2639	ENSP00000164024:P2634S;ENSP00000445694:P2639S	ENSP00000164024:P2634S	P	-	1	0	CELSR3	48657544	1.000000	0.71417	0.975000	0.42487	0.919000	0.55068	3.629000	0.54266	2.450000	0.82876	0.561000	0.74099	CCA		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		A	48682540	G	A	48682540	3	1	418	1	0	0	0	0	1	0	0	0	3225	1203	42	2	2082	2	CELSR3	3	48682540	Missense_Mutation	SNP	G	TCGA-BP-5009-01A-01D-1462-08	38498777	48682540	149339890	13	22754											
PROS1	5627	broad.mit.edu	37	3	93643109	93643109	+	Splice_Site	SNP	C	C	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr3:93643109C>A	ENST00000394236.3	-	3	551		c.e3-1		PROS1_ENST00000407433.1_Splice_Site	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AAAAATAATCCTAGAAAGAAG	0.244																																																1	Unknown(1)	kidney(1)											31	33	32					3																	93643109		2182	4267	6449	SO:0001630	splice_region_variant	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.235-1G>T	3.37:g.93643109C>A			A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Splice_Site	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589784	0.66105	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9153	0.79512	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PROS1	95125799	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.787000	0.62432	2.416000	0.81992	0.549000	0.68633	.		0.244	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	Intron	A	93643109	C	A	93643109	5	1	418	1	0	0	0	0	0	0	1	0	12563	695	24	4	1848	4	PROS1	3	93643109	Splice_Site	SNP	C	TCGA-BP-5009-01A-01D-1462-08	44960569	93643109	104379321	14	22755											
ADD1	118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2906737	2906737	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr4:2906737A>G	ENST00000398129.1	+	9	1428	c.1408A>G	c.(1408-1410)Act>Gct	p.T470A	ADD1_ENST00000398123.2_Missense_Mutation_p.T470A|ADD1_ENST00000398125.1_Missense_Mutation_p.T470A|ADD1_ENST00000355842.3_Missense_Mutation_p.T470A|ADD1_ENST00000446856.1_Missense_Mutation_p.T470A|ADD1_ENST00000503455.2_Missense_Mutation_p.T470A|ADD1_ENST00000264758.7_Missense_Mutation_p.T470A|ADD1_ENST00000513328.2_Missense_Mutation_p.T470A			P35611	ADDA_HUMAN	adducin 1 (alpha)	470					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)	p.T470A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAGTCGAAGACTAAGGTGTG	0.542																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											1	Substitution - Missense(1)	kidney(1)											127	100	109					4																	2906737		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1408A>G	4.37:g.2906737A>G	ENSP00000381197:p.Thr470Ala		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332701	0.81801	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.55	5.55	0.83447	.	0.047229	0.85682	D	0.000000	T	0.45175	0.1329	M	0.79926	2.475	0.80722	D	1	P;P;P;D;P;P	0.58268	0.632;0.715;0.753;0.982;0.571;0.857	B;B;B;P;B;P	0.58577	0.314;0.403;0.265;0.841;0.124;0.493	T	0.47509	-0.9112	10	0.54805	T	0.06	-24.8559	15.6886	0.77430	1.0:0.0:0.0:0.0	.	470;470;470;470;470;470	B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;ADDA_HUMAN;.;.;.	A	470	ENSP00000264758:T470A;ENSP00000399828:T470A;ENSP00000381193:T470A;ENSP00000421907:T470A;ENSP00000423024:T470A;ENSP00000348100:T470A;ENSP00000381191:T470A;ENSP00000381197:T470A	ENSP00000264758:T470A	T	+	1	0	ADD1	2876535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.929000	0.70096	2.110000	0.64415	0.533000	0.62120	ACT		0.542	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		G	2906737	A	G	2906737	3	3	418	1	0	0	0	0	1	0	0	0	304	275	10	3	1442	3	ADD1	4	2906737	Missense_Mutation	SNP	A	TCGA-BP-5009-01A-01D-1462-08		2906737	188247539	15	22756											
SLIT2	9353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	20550708	20550708	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr4:20550708A>C	ENST00000504154.1	+	24	2698	c.2446A>C	c.(2446-2448)Att>Ctt	p.I816L	SLIT2_ENST00000503823.1_Missense_Mutation_p.I808L|SLIT2_ENST00000503837.1_Missense_Mutation_p.I812L|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Missense_Mutation_p.I820L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	816					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.I816L(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTGAGATGTATTCCTCCTCG	0.353																																																1	Substitution - Missense(1)	kidney(1)											132	122	125					4																	20550708		2202	4299	6501	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2446A>C	4.37:g.20550708A>C	ENSP00000422591:p.Ile816Leu		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636708	0.67130	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.77	3.26	0.37387	.	0.043953	0.85682	N	0.000000	T	0.56920	0.2018	N	0.17312	0.475	0.58432	D	0.999997	B;B	0.30824	0.064;0.296	B;P	0.60345	0.267;0.873	T	0.50118	-0.8865	10	0.15952	T	0.53	.	12.978	0.58547	0.7447:0.2552:0.0:0.0	.	808;816	O94813-3;O94813	.;SLIT2_HUMAN	L	808;816;820;812;812;17	ENSP00000427548:I808L;ENSP00000422591:I816L;ENSP00000273739:I820L;ENSP00000422261:I812L;ENSP00000421975:I17L	ENSP00000273739:I820L	I	+	1	0	SLIT2	20159806	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.439000	0.59968	0.506000	0.28125	-0.446000	0.05623	ATT		0.353	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			C	20550708	A	C	20550708	3	2	418	1	0	0	0	0	1	0	0	0	14746	449	16	5	2540	5	SLIT2	4	20550708	Missense_Mutation	SNP	A	TCGA-BP-5009-01A-01D-1462-08	17643971	20550708	170603568	16	22757											
PTPN13	5783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87692395	87692395	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr4:87692395G>C	ENST00000411767.2	+	31	4938	c.4875G>C	c.(4873-4875)gaG>gaC	p.E1625D	PTPN13_ENST00000511467.1_Missense_Mutation_p.E1630D|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1606D|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1434D|PTPN13_ENST00000436978.1_Missense_Mutation_p.E1630D			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1625			E -> K (in dbSNP:rs12500797).		peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.E1630D(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CATGTGTGGAGCAAAGCACCA	0.443																																																1	Substitution - Missense(1)	kidney(1)											33	32	32					4																	87692395		1981	4167	6148	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4875G>C	4.37:g.87692395G>C	ENSP00000407249:p.Glu1625Asp		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	7.548	0.662043	0.14645	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.50548	0.74;0.77;0.83;0.74;0.77	5.32	2.49	0.30216	.	0.134693	0.33217	N	0.005151	T	0.29556	0.0737	L	0.38531	1.155	0.29629	N	0.845573	B;B;B;B	0.11235	0.004;0.0;0.0;0.0	B;B;B;B	0.15484	0.013;0.005;0.002;0.005	T	0.13072	-1.0523	10	0.15499	T	0.54	.	4.1206	0.10104	0.2584:0.0:0.4913:0.2503	.	1434;1606;1625;1630	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	D	1606;1630;1434;1625;1630;1574	ENSP00000408368:E1606D;ENSP00000394794:E1630D;ENSP00000322675:E1434D;ENSP00000407249:E1625D;ENSP00000426626:E1630D	ENSP00000322675:E1434D	E	+	3	2	PTPN13	87911419	0.993000	0.37304	0.998000	0.56505	0.855000	0.48748	0.412000	0.21131	0.741000	0.32674	0.655000	0.94253	GAG		0.443	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			C	87692395	G	C	87692395	3	2	418	1	0	0	0	0	1	0	0	0	12788	962	34	4	5008	4	PTPN13	4	87692395	Missense_Mutation	SNP	G	TCGA-BP-5009-01A-01D-1462-08	67141687	87692395	103461881	17	22758											
ANK2	287	hgsc.bcm.edu;ucsc.edu	37	4	114277376	114277376	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr4:114277376delC	ENST00000357077.4	+	38	7655	c.7602delC	c.(7600-7602)agcfs	p.S2534fs	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.S2501fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2534					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGGGAAGAGCCCCCTTTCTC	0.532																																																0													100	104	103					4																	114277376		2203	4300	6503	SO:0001589	frameshift_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7602delC	4.37:g.114277376delC	ENSP00000349588:p.Ser2534fs		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL	ENST00000357077.4	37	CCDS3702.1																																																																																				0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		-	114277376	C	-	114277376	7	5	418	1	0	1	0	1	0	0	0	0	621	738	26	0	7817	0	ANK2	4	114277376	Frame_Shift_Del	DEL	C	TCGA-BP-5009-01A-01D-1462-08	26584981	114277376	76876900	18	22759											
AGA	175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	178352921	178352921	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr4:178352921A>T	ENST00000264595.2	-	9	1109	c.982T>A	c.(982-984)Ttc>Atc	p.F328I	AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	328					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)	p.F328I(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TAAACCATGAAACTAAACTGA	0.343																																																1	Substitution - Missense(1)	kidney(1)											99	97	97					4																	178352921		2203	4300	6503	SO:0001583	missense	175			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.982T>A	4.37:g.178352921A>T	ENSP00000264595:p.Phe328Ile		B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	A	34	5.296474	0.95574	.	.	ENSG00000038002	ENST00000264595	D	0.87256	-2.23	5.76	5.76	0.90799	.	0.131276	0.64402	D	0.000001	D	0.93452	0.7911	M	0.88105	2.93	0.80722	D	1	D	0.54772	0.968	P	0.58970	0.849	D	0.93978	0.7255	10	0.52906	T	0.07	-30.6081	16.0247	0.80536	1.0:0.0:0.0:0.0	.	328	P20933	ASPG_HUMAN	I	328	ENSP00000264595:F328I	ENSP00000264595:F328I	F	-	1	0	AGA	178589915	1.000000	0.71417	0.930000	0.37139	0.993000	0.82548	8.185000	0.89704	2.324000	0.78689	0.533000	0.62120	TTC		0.343	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		T	178352921	A	T	178352921	3	4	418	1	0	0	0	0	1	0	0	0	365	14	1	5	62	5	AGA	4	178352921	Missense_Mutation	SNP	A	TCGA-BP-5009-01A-01D-1462-08	64075545	178352921	12801355	19	22760											
TERT	7015	broad.mit.edu;hgsc.bcm.edu	37	5	1294723	1294723	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr5:1294723G>A	ENST00000310581.5	-	2	335	c.278C>T	c.(277-279)gCg>gTg	p.A93V	TERT_ENST00000296820.5_Missense_Mutation_p.A93V|TERT_ENST00000522877.1_5'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.A93V|TERT_ENST00000508104.2_Missense_Mutation_p.A93V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	93	GQ motif.|RNA-interacting domain 1.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.A93V(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CACGTTCTTCGCGCCGCGCTC	0.726									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																							2	Substitution - Missense(2)	kidney(2)											7	8	8					5																	1294723		2005	4090	6095	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.278C>T	5.37:g.1294723G>A	ENSP00000309572:p.Ala93Val		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741876	0.49151	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	3.59	0.994	0.19832	.	0.479797	0.21632	N	0.071478	D	0.88592	0.6478	L	0.36672	1.1	0.23645	N	0.99722	D;D;D	0.69078	0.989;0.981;0.997	P;B;P	0.50378	0.581;0.377;0.639	T	0.80808	-0.1217	10	0.38643	T	0.18	-18.4864	9.0209	0.36200	0.0:0.0:0.3333:0.6667	.	93;93;93	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	V	93	ENSP00000309572:A93V;ENSP00000296820:A93V;ENSP00000334346:A93V;ENSP00000426042:A93V	ENSP00000296820:A93V	A	-	2	0	TERT	1347723	0.002000	0.14202	0.863000	0.33907	0.752000	0.42762	0.573000	0.23699	0.554000	0.29061	0.462000	0.41574	GCG		0.726	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			A	1294723	G	A	1294723	3	1	418	1	0	0	0	0	1	0	0	0	15769	1087	38	1	3180	1	TERT	5	1294723	Missense_Mutation	SNP	G	TCGA-BP-5009-01A-01D-1462-08		1294723	179620537	20	22761											
PKD2L2	27039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137230170	137230170	+	Silent	SNP	T	T	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr5:137230170T>G	ENST00000508883.1	+	4	422	c.396T>G	c.(394-396)cgT>cgG	p.R132R	PKD2L2_ENST00000508638.1_Silent_p.R132R|PKD2L2_ENST00000502810.1_Silent_p.R132R|PKD2L2_ENST00000290431.5_Silent_p.R132R|PKD2L2_ENST00000350250.4_Silent_p.R98R			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	132					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.R132R(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCAGAGTTCGTCAACTAAAAG	0.373																																																1	Substitution - coding silent(1)	kidney(1)											117	113	114					5																	137230170		1854	4092	5946	SO:0001819	synonymous_variant	27039			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.396T>G	5.37:g.137230170T>G			A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	37																																																																																					0.373	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		G	137230170	T	G	137230170	2	3	418	1	0	0	0	0	0	0	0	1	11970	1654	58	5		5	PKD2L2	5	137230170	Silent	SNP	T	TCGA-BP-5009-01A-01D-1462-08	135935447	137230170	43685090	21	22762											
TUBB	203068	broad.mit.edu;hgsc.bcm.edu	37	6	30692126	30692126	+	Silent	SNP	C	C	A	rs146810731		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr6:30692126C>A	ENST00000327892.8	+	4	1593	c.1287C>A	c.(1285-1287)acC>acA	p.T429T	TUBB_ENST00000330914.3_Silent_p.T357T|TUBB_ENST00000396384.1_Silent_p.T357T|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000435534.1_Silent_p.T228T|TUBB_ENST00000396389.1_Silent_p.T411T	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	429					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T429T(1)		breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	AGGATGCCACCGCAGAAGAGG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											46	41	43					6																	30692126		2202	4298	6500	SO:0001819	synonymous_variant	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.1287C>A	6.37:g.30692126C>A			P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	CCDS4687.1																																																																																				0.572	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		A	30692126	C	A	30692126	2	1	418	1	0	0	0	0	0	0	0	1	16757	639	23	4		4	TUBB	6	30692126	Silent	SNP	C	TCGA-BP-5009-01A-01D-1462-08		30692126	140422941	22	22763											
HIVEP2	3097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	143094139	143094139	+	Silent	SNP	T	T	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr6:143094139T>A	ENST00000367604.1	-	4	2376	c.1737A>T	c.(1735-1737)ccA>ccT	p.P579P	HIVEP2_ENST00000012134.2_Silent_p.P579P|HIVEP2_ENST00000367603.2_Silent_p.P579P			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P579P(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCACGGTCCCTGGATAGAATA	0.507																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											1	Substitution - coding silent(1)	kidney(1)											85	84	84					6																	143094139		1951	4148	6099	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1737A>T	6.37:g.143094139T>A			Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.507	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			A	143094139	T	A	143094139	2	1	418	1	0	0	0	0	0	0	0	1	7189	1567	55	5		5	HIVEP2	6	143094139	Silent	SNP	T	TCGA-BP-5009-01A-01D-1462-08	112402013	143094139	28020928	23	22764											
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21657267	21657267	+	Missense_Mutation	SNP	G	G	A	rs531283952		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr7:21657267G>A	ENST00000409508.3	+	23	4157	c.4126G>A	c.(4126-4128)Gtc>Atc	p.V1376I	DNAH11_ENST00000328843.6_Missense_Mutation_p.V1381I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1381	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1381F(1)|p.V1381I(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAAGTCCGCGTCTGGGATGC	0.483									Kartagener syndrome				G|||	1	0.000199681	0.0	0.0014	5008	,	,		19599	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											55	55	55					7																	21657267		1887	4106	5993	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4126G>A	7.37:g.21657267G>A	ENSP00000475939:p.Val1376Ile		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	5.366	0.252759	0.10185	.	.	ENSG00000105877	ENST00000328843	T	0.60672	0.17	5.48	2.44	0.29823	Dynein heavy chain, domain-2 (1);	0.624196	0.14824	N	0.296281	T	0.41766	0.1173	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31336	-0.9947	9	0.49607	T	0.09	.	4.7959	0.13272	0.0847:0.1064:0.573:0.2359	.	1381	Q96DT5	DYH11_HUMAN	I	1381	ENSP00000330671:V1381I	ENSP00000330671:V1381I	V	+	1	0	DNAH11	21623792	0.000000	0.05858	0.055000	0.19348	0.034000	0.12701	0.206000	0.17375	0.705000	0.31890	-1.303000	0.01326	GTC		0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		A	21657267	G	A	21657267	3	1	418	1	0	0	0	0	1	0	0	0	4601	1145	40	1	4231	1	DNAH11	7	21657267	Missense_Mutation	SNP	G	TCGA-BP-5009-01A-01D-1462-08		21657267	137481396	24	22765											
NCAPG2	54892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	158472689	158472689	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr7:158472689A>C	ENST00000409423.1	-	12	1281	c.1109T>G	c.(1108-1110)aTg>aGg	p.M370R	NCAPG2_ENST00000356309.3_Missense_Mutation_p.M370R|NCAPG2_ENST00000449727.2_Missense_Mutation_p.M370R|NCAPG2_ENST00000409339.3_Missense_Mutation_p.M370R|NCAPG2_ENST00000275830.10_Missense_Mutation_p.M162R	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	370					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.M370R(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TTCACTATCCATTTCAATAGC	0.393																																																1	Substitution - Missense(1)	kidney(1)											151	143	145					7																	158472689		1908	4120	6028	SO:0001583	missense	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1109T>G	7.37:g.158472689A>C	ENSP00000386569:p.Met370Arg		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.82|11.82	1.753420|1.753420	0.31046|0.31046	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727|ENST00000441982	T;T;T;T;T|.	0.31769|.	1.49;1.49;1.54;1.48;1.48|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.077587|.	0.85682|.	D|.	0.000000|.	T|T	0.60248|0.60248	0.2254|0.2254	L|L	0.47716|0.47716	1.5|1.5	0.46167|0.46167	D|D	0.998903|0.998903	D;D;D|.	0.64830|.	0.994;0.974;0.99|.	P;P;P|.	0.62382|.	0.901;0.601;0.798|.	T|T	0.58200|0.58200	-0.7678|-0.7678	10|5	0.21540|.	T|.	0.41|.	-44.2334|-44.2334	11.794|11.794	0.52088|0.52088	0.9326:0.0:0.0674:0.0|0.9326:0.0:0.0674:0.0	.|.	370;162;370|.	Q86XI2-2;E7EUH9;Q86XI2|.	.;.;CNDG2_HUMAN|.	R|G	370;370;162;370;370|172	ENSP00000348657:M370R;ENSP00000386569:M370R;ENSP00000275830:M162R;ENSP00000387007:M370R;ENSP00000388326:M370R|.	ENSP00000275830:M162R|.	M|W	-|-	2|1	0|0	NCAPG2|NCAPG2	158165450|158165450	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.070000|0.070000	0.16714|0.16714	4.468000|4.468000	0.60162|0.60162	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATG|TGG		0.393	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		C	158472689	A	C	158472689	3	2	418	1	0	0	0	0	1	0	0	0	10210	217	8	5	2394	5	NCAPG2	7	158472689	Missense_Mutation	SNP	A	TCGA-BP-5009-01A-01D-1462-08	136815422	158472689	665974	25	22766											
OR52B4	143496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4388624	4388624	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:4388624A>G	ENST00000408920.2	-	1	992	c.902T>C	c.(901-903)aTc>aCc	p.I301T		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	301					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I301T(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTTCCTGGATTTGCTTGGT	0.403																																																1	Substitution - Missense(1)	kidney(1)											62	61	61					11																	4388624		1871	4113	5984	SO:0001583	missense	143496			AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"GPCR / Class A : Olfactory receptors"	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.902T>C	11.37:g.4388624A>G	ENSP00000386160:p.Ile301Thr		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	A	9.793	1.178397	0.21787	.	.	ENSG00000221996	ENST00000408920	T	0.39406	1.08	4.97	3.85	0.44370	.	0.000000	0.53938	D	0.000045	T	0.72120	0.3421	H	0.97611	4.04	0.23923	N	0.996455	D	0.69078	0.997	D	0.64687	0.928	T	0.68823	-0.5307	10	0.87932	D	0	.	9.5971	0.39580	0.9168:0.0:0.0832:0.0	.	301	Q8NGK2	O52B4_HUMAN	T	301	ENSP00000386160:I301T	ENSP00000386160:I301T	I	-	2	0	OR52B4	4345200	1.000000	0.71417	0.019000	0.16419	0.005000	0.04900	6.606000	0.74159	0.935000	0.37341	0.459000	0.35465	ATC		0.403	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		G	4388624	A	G	4388624	3	3	418	1	0	0	0	0	1	0	0	0	11114	333	12	3	46	3	OR52B4	11	4388624	Missense_Mutation	SNP	A	TCGA-BP-5009-01A-01D-1462-08		4388624	130617892	26	22767											
SLC17A6	57084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22397548	22397548	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:22397548C>G	ENST00000263160.3	+	10	1632	c.1195C>G	c.(1195-1197)Ctg>Gtg	p.L399V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	399					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.L399V(1)|p.L399M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGAAGCCACACTGCTCCTGGT	0.388																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)											161	165	164					11																	22397548		2203	4300	6503	SO:0001583	missense	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1195C>G	11.37:g.22397548C>G	ENSP00000263160:p.Leu399Val		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966593	0.53507	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58797	0.31	6.17	-0.244	0.13031	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.64170	1.965	0.46149	D	0.99889	B	0.23540	0.087	B	0.30572	0.117	T	0.51624	-0.8682	10	0.52906	T	0.07	.	11.0429	0.47842	0.0:0.6473:0.0:0.3527	.	399	Q9P2U8	VGLU2_HUMAN	V	399;287	ENSP00000263160:L399V	ENSP00000263160:L399V	L	+	1	2	SLC17A6	22354124	0.039000	0.19947	0.149000	0.22428	0.845000	0.48019	0.510000	0.22723	-0.050000	0.13356	-0.140000	0.14226	CTG		0.388	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		G	22397548	C	G	22397548	3	3	418	1	0	0	0	0	1	0	0	0	14427	564	20	4	1233	4	SLC17A6	11	22397548	Missense_Mutation	SNP	C	TCGA-BP-5009-01A-01D-1462-08	18008924	22397548	112608968	27	22768											
OR5M8	219484	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56258042	56258042	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:56258042G>A	ENST00000327216.2	-	1	829	c.805C>T	c.(805-807)Cag>Tag	p.Q269*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q269*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					ATTTTACCCTGTTCAACAGAT	0.368																																																1	Substitution - Nonsense(1)	kidney(1)											44	50	48					11																	56258042		2201	4295	6496	SO:0001587	stop_gained	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.805C>T	11.37:g.56258042G>A	ENSP00000323354:p.Gln269*		B2RNM5|Q6IEW3|Q96RB8	Nonsense_Mutation	SNP	ENST00000327216.2	37	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	7.570	0.666611	0.14710	.	.	ENSG00000181371	ENST00000327216	.	.	.	4.26	2.13	0.27403	.	0.000000	0.36519	U	0.002558	.	.	.	.	.	.	0.53005	D	0.999968	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-15.1631	7.1433	0.25568	0.0:0.3271:0.4959:0.1769	.	.	.	.	X	269	.	ENSP00000323354:Q269X	Q	-	1	0	OR5M8	56014618	0.000000	0.05858	0.858000	0.33744	0.145000	0.21501	-0.405000	0.07196	0.894000	0.36317	0.567000	0.79289	CAG		0.368	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		A	56258042	G	A	56258042	4	1	418	1	0	0	0	0	0	1	0	0	11178	1386	48	2	134	2	OR5M8	11	56258042	Nonsense_Mutation	SNP	G	TCGA-BP-5009-01A-01D-1462-08	33860494	56258042	78748474	28	22769	170	2									
OR5M8	219484	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56258050	56258050	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:56258050G>C	ENST00000327216.2	-	1	821	c.797C>G	c.(796-798)tCt>tGt	p.S266C		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S266C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CTGTTCAACAGATTCCTTTGA	0.378																																																1	Substitution - Missense(1)	kidney(1)											43	48	46					11																	56258050		2201	4295	6496	SO:0001583	missense	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.797C>G	11.37:g.56258050G>C	ENSP00000323354:p.Ser266Cys		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	7.562	0.664920	0.14710	.	.	ENSG00000181371	ENST00000327216	T	0.00279	8.33	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	U	0.001820	T	0.00468	0.0015	M	0.91663	3.23	0.09310	N	1	B	0.21071	0.051	B	0.30029	0.11	T	0.18840	-1.0324	10	0.87932	D	0	-28.1087	14.6945	0.69110	0.0:0.0:1.0:0.0	.	266	Q8NGP6	OR5M8_HUMAN	C	266	ENSP00000323354:S266C	ENSP00000323354:S266C	S	-	2	0	OR5M8	56014626	0.004000	0.15560	0.891000	0.34965	0.128000	0.20619	1.076000	0.30729	2.104000	0.64026	0.567000	0.79289	TCT		0.378	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		C	56258050	G	C	56258050	3	2	418	1	0	0	0	0	1	0	0	0	11178	942	33	4	142	4	OR5M8	11	56258050	Missense_Mutation	SNP	G	TCGA-BP-5009-01A-01D-1462-08	8	56258050	78748466	29	22770	170	2									
C11orf24	53838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68029933	68029933	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:68029933G>A	ENST00000304271.6	-	4	932	c.530C>T	c.(529-531)aCc>aTc	p.T177I	C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'UTR	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	177						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T177I(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						AGTGGACGGGGTCCGCCCTGT	0.627																																					NSCLC(21;855 905 4198 36694)											1	Substitution - Missense(1)	kidney(1)											48	49	49					11																	68029933		2200	4294	6494	SO:0001583	missense	53838			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.530C>T	11.37:g.68029933G>A	ENSP00000307264:p.Thr177Ile		Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093720	0.36952	.	.	ENSG00000171067	ENST00000304271	T	0.34072	1.38	4.38	2.46	0.29980	.	0.975373	0.08333	N	0.962069	T	0.28797	0.0714	L	0.43152	1.355	0.22305	N	0.999214	P	0.36837	0.571	B	0.30029	0.11	T	0.17107	-1.0380	10	0.52906	T	0.07	4.5661	9.358	0.38179	0.0867:0.148:0.7653:0.0	.	177	Q96F05	CK024_HUMAN	I	177	ENSP00000307264:T177I	ENSP00000307264:T177I	T	-	2	0	C11orf24	67786509	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	1.408000	0.34668	0.971000	0.38288	-0.378000	0.06908	ACC		0.627	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		A	68029933	G	A	68029933	3	1	418	1	0	0	0	0	1	0	0	0	1637	1261	44	2	823	2	C11orf24	11	68029933	Missense_Mutation	SNP	G	TCGA-BP-5009-01A-01D-1462-08	11771883	68029933	66976583	30	22771											
RPS3	6188	broad.mit.edu;hgsc.bcm.edu	37	11	75113456	75113456	+	Missense_Mutation	SNP	C	C	T	rs528039603		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:75113456C>T	ENST00000531188.1	+	4	378	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000527446.1_Missense_Mutation_p.R106C|RPS3_ENST00000526608.1_Missense_Mutation_p.R94C|RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000524851.1_Missense_Mutation_p.R106C|RPS3_ENST00000530164.1_Missense_Mutation_p.R106C|RPS3_ENST00000278572.6_Missense_Mutation_p.R122C|SNORD15A_ENST00000384214.1_RNA	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	106					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)	p.R106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						AGAGTCTCTGCGTTACAAACT	0.473													c|||	1	0.000199681	0.0008	0.0	5008	,	,		21714	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											113	106	108					11																	75113456		2200	4293	6493	SO:0001583	missense	6188				CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"S ribosomal proteins"	10420	protein-coding gene	gene with protein product	"IMR-90 ribosomal protein S3", "40S ribosomal protein S3"	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.316C>T	11.37:g.75113456C>T	ENSP00000434643:p.Arg106Cys		B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	CCDS8236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.497806|4.497806	0.85069|0.85069	.|.	.|.	ENSG00000149273|ENSG00000149273	ENST00000527273|ENST00000531188;ENST00000530164;ENST00000530689;ENST00000278572;ENST00000527446;ENST00000526608;ENST00000524851	.|.	.|.	.|.	5.17|5.17	4.26|4.26	0.50523|0.50523	.|K Homology (1);Ribosomal protein S3, C-terminal (3);	.|0.046705	.|0.85682	.|D	.|0.000000	T|T	0.77294|0.77294	0.4109|0.4109	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	.|B	.|0.30914	.|0.3	.|B	.|0.38378	.|0.272	T|T	0.80538|0.80538	-0.1338|-0.1338	6|9	0.51188|0.66056	T|D	0.08|0.02	-0.3795|-0.3795	13.6035|13.6035	0.62033|0.62033	0.0:0.8434:0.1566:0.0|0.0:0.8434:0.1566:0.0	.|.	.|106	.|P23396	.|RS3_HUMAN	V|C	87|106;106;106;122;106;94;106	.|.	ENSP00000435457:A87V|ENSP00000278572:R122C	A|R	+|+	2|1	0|0	RPS3|RPS3	74791104|74791104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	5.919000|5.919000	0.70005|0.70005	1.404000|1.404000	0.46819|0.46819	-0.165000|-0.165000	0.13383|0.13383	GCG|CGT		0.473	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		T	75113456	C	T	75113456	3	4	418	1	0	0	0	0	1	0	0	0	13649	768	27	1	330	1	RPS3	11	75113456	Missense_Mutation	SNP	C	TCGA-BP-5009-01A-01D-1462-08	7083523	75113456	59893060	31	22772											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92533045	92533045	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:92533045A>G	ENST00000298047.6	+	9	6883	c.6866A>G	c.(6865-6867)cAg>cGg	p.Q2289R	FAT3_ENST00000525166.1_Missense_Mutation_p.Q2139R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q2289R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2289	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q2289R(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTTTCGATCAGCCTACATAC	0.413										TCGA Ovarian(4;0.039)																																						2	Substitution - Missense(2)	kidney(2)											100	88	92					11																	92533045		1910	4125	6035	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6866A>G	11.37:g.92533045A>G	ENSP00000298047:p.Gln2289Arg		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	11.90	1.777294	0.31411	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.59906	0.23;0.23;0.23	5.94	5.94	0.96194	.	.	.	.	.	T	0.54127	0.1839	L	0.60904	1.88	0.80722	D	1	B	0.25486	0.127	B	0.27076	0.076	T	0.53215	-0.8470	9	0.42905	T	0.14	.	11.4841	0.50344	0.866:0.0:0.0:0.134	.	2289	Q8TDW7-3	.	R	2289;2289;2139	ENSP00000298047:Q2289R;ENSP00000387040:Q2289R;ENSP00000432586:Q2139R	ENSP00000298047:Q2289R	Q	+	2	0	FAT3	92172693	0.995000	0.38212	0.408000	0.26446	0.937000	0.57800	6.081000	0.71309	2.275000	0.75901	0.528000	0.53228	CAG		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92533045	A	G	92533045	3	3	418	1	0	0	0	0	1	0	0	0	5693	188	7	3	6900	3	FAT3	11	92533045	Missense_Mutation	SNP	A	TCGA-BP-5009-01A-01D-1462-08	17419589	92533045	42473471	32	22773											
PIWIL4	143689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94308185	94308185	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:94308185G>C	ENST00000299001.6	+	3	398	c.187G>C	c.(187-189)Ggt>Cgt	p.G63R	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	63					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.G63R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATATCTTCTGGTGATGCTGG	0.348																																																1	Substitution - Missense(1)	kidney(1)											104	99	100					11																	94308185		2201	4298	6499	SO:0001583	missense	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.187G>C	11.37:g.94308185G>C	ENSP00000299001:p.Gly63Arg		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.669498	0.29693	.	.	ENSG00000134627	ENST00000299001	T	0.04758	3.56	4.6	2.74	0.32292	.	0.093784	0.44688	D	0.000421	T	0.12603	0.0306	M	0.66378	2.025	0.80722	D	1	D	0.57571	0.98	P	0.59595	0.86	T	0.03829	-1.1000	10	0.31617	T	0.26	-24.1606	8.4005	0.32583	0.0826:0.0:0.7632:0.1542	.	63	Q7Z3Z4	PIWL4_HUMAN	R	63	ENSP00000299001:G63R	ENSP00000299001:G63R	G	+	1	0	PIWIL4	93947833	1.000000	0.71417	0.032000	0.17829	0.003000	0.03518	2.581000	0.46077	0.573000	0.29400	-0.158000	0.13435	GGT		0.348	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		C	94308185	G	C	94308185	3	2	418	1	0	0	0	0	1	0	0	0	11962	1348	47	4	197	4	PIWIL4	11	94308185	Missense_Mutation	SNP	G	TCGA-BP-5009-01A-01D-1462-08	1775140	94308185	40698331	33	22774											
MMP20	9313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	102482517	102482517	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:102482517T>G	ENST00000260228.2	-	3	504	c.492A>C	c.(490-492)gaA>gaC	p.E164D	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	167					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E164D(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TAATATCCGCTTCTCCTGAGT	0.453																																																1	Substitution - Missense(1)	kidney(1)											70	69	70					11																	102482517		2203	4299	6502	SO:0001583	missense	9313			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.492A>C	11.37:g.102482517T>G	ENSP00000260228:p.Glu164Asp		D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.519940	0.44866	.	.	ENSG00000137674	ENST00000260228	T	0.22539	1.95	5.35	4.22	0.49857	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.423937	0.30043	N	0.010557	T	0.12774	0.0310	N	0.12961	0.28	0.42879	D	0.994166	B	0.14012	0.009	B	0.22880	0.042	T	0.10109	-1.0644	10	0.25751	T	0.34	.	11.0715	0.48006	0.0:0.0733:0.0:0.9267	.	164	O60882	MMP20_HUMAN	D	164	ENSP00000260228:E164D	ENSP00000260228:E164D	E	-	3	2	MMP20	101987727	0.547000	0.26465	1.000000	0.80357	0.965000	0.64279	-0.213000	0.09305	1.042000	0.40150	0.533000	0.62120	GAA		0.453	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			G	102482517	T	G	102482517	3	3	418	1	0	0	0	0	1	0	0	0	9661	1606	56	5	991	5	MMP20	11	102482517	Missense_Mutation	SNP	T	TCGA-BP-5009-01A-01D-1462-08	8174332	102482517	32523999	34	22775											
KCNJ8	3764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21918783	21918783	+	Silent	SNP	G	G	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr12:21918783G>T	ENST00000240662.2	-	3	1494	c.1149C>A	c.(1147-1149)cgC>cgA	p.R383R	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	383					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.R383R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TCATGGAGTTGCGCTTCCTCA	0.458																																																1	Substitution - coding silent(1)	kidney(1)											164	162	163					12																	21918783		2203	4300	6503	SO:0001819	synonymous_variant	3764			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1149C>A	12.37:g.21918783G>T			O00657	Silent	SNP	ENST00000240662.2	37	CCDS8692.1																																																																																				0.458	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		T	21918783	G	T	21918783	2	4	418	1	0	0	0	0	0	0	0	1	8058	1306	46	4		4	KCNJ8	12	21918783	Silent	SNP	G	TCGA-BP-5009-01A-01D-1462-08		21918783	111933112	35	22776											
RAN	5901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	131357432	131357432	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr12:131357432C>T	ENST00000543796.1	+	3	346	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	RAN_ENST00000392369.2_Missense_Mutation_p.H30Y|RAN_ENST00000392367.3_Missense_Mutation_p.H30Y|RAN_ENST00000541630.1_5'UTR|RAN_ENST00000254675.3_5'UTR			P62826	RAN_HUMAN	RAN, member RAS oncogene family	30					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.H30Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		CGTGAAACGTCATTTGACTGG	0.403																																																1	Substitution - Missense(1)	kidney(1)											340	325	330					12																	131357432		2203	4300	6503	SO:0001583	missense	5901			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.88C>T	12.37:g.131357432C>T	ENSP00000446215:p.His30Tyr		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	ENST00000543796.1	37	CCDS9271.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789647	0.50102	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000392369;ENST00000535090;ENST00000392367	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	3.72	3.72	0.42706	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	N	0.13140	0.3	0.80722	D	1	B;B	0.32350	0.366;0.366	B;B	0.30179	0.112;0.112	T	0.61802	-0.6988	10	0.66056	D	0.02	-14.7063	14.8201	0.70065	0.0:1.0:0.0:0.0	.	30;30	A8K3Z8;P62826	.;RAN_HUMAN	Y	30;48;30;26;30	ENSP00000446215:H30Y;ENSP00000396127:H48Y;ENSP00000376176:H30Y;ENSP00000444042:H26Y;ENSP00000376174:H30Y	ENSP00000376174:H30Y	H	+	1	0	RAN	129923385	1.000000	0.71417	0.056000	0.19401	0.219000	0.24729	6.785000	0.75089	1.792000	0.52537	0.511000	0.50034	CAT		0.403	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259441.2	NM_006325		T	131357432	C	T	131357432	3	4	418	1	0	0	0	0	1	0	0	0	13030	826	29	2	94	2	RAN	12	131357432	Missense_Mutation	SNP	C	TCGA-BP-5009-01A-01D-1462-08	109438649	131357432	2494463	36	22777											
C14orf135	64430	hgsc.bcm.edu	37	14	60592395	60592396	+	In_Frame_Ins	INS	-	-	TAT	rs201595102	byFrequency	TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr14:60592395_60592396insTAT	ENST00000406854.1	+	10	3675_3676	c.3121_3122insTAT	c.(3121-3123)cca>cTATca	p.1041_1041P>LS	PCNXL4_ENST00000404681.2_In_Frame_Ins_p.1041_1041P>LS|PCNXL4_ENST00000317623.4_In_Frame_Ins_p.807_807P>LS|PCNXL4_ENST00000535349.1_In_Frame_Ins_p.248_248P>LS|PCNXL4_ENST00000406949.1_In_Frame_Ins_p.807_807P>LS			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1041						integral component of membrane (GO:0016021)											AAGTTTAGGTCCAATAGAAGAC	0.317														121	0.0241613	0.0847	0.0058	5008	,	,		17078	0.0		0.001	False		,,,				2504	0.0041															0										318,3946		10,298,1824						4.1	1			54	20,8228		0,20,4104	no	coding	C14orf135	NM_022495.5		10,318,5928	A1A1,A1R,RR		0.2425,7.4578,2.7014				338,12174				SO:0001652	inframe_insertion	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	Exception_encountered	14.37:g.60592395_60592396insTAT	ENSP00000384801:p.Pro1041delinsLeuSer		A8MXM2|Q9BQG8|Q9H9F2	In_Frame_Ins	INS	ENST00000406854.1	37																																																																																					0.317	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		TAT	60592396	-	TAT	60592395	7	5	418	1	0	1	1	0	0	0	0	0	1747	855	30	0	2449	0	C14orf135	14	60592395	In_Frame_Ins	INS	-	TCGA-BP-5009-01A-01D-1462-08		60592395	46757145	37	22778											
CSK	1445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75092775	75092775	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr15:75092775G>A	ENST00000220003.9	+	6	1214	c.485G>A	c.(484-486)gGa>gAa	p.G162E	CSK_ENST00000439220.2_Missense_Mutation_p.G162E|CSK_ENST00000309470.9_Missense_Mutation_p.G162E|CSK_ENST00000567571.1_Missense_Mutation_p.G162E	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	162	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)	p.G162E(1)		central_nervous_system(1)|lung(2)	3						GACGCAGATGGACTCTGTACG	0.617											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											113	94	101					15																	75092775		2197	4296	6493	SO:0001583	missense	1445				CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.485G>A	15.37:g.75092775G>A	ENSP00000220003:p.Gly162Glu	1157	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336389	0.95758	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.29655	1.56;1.56;1.56	5.44	5.44	0.79542	SH2 motif (3);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76132	-0.3071	10	0.87932	D	0	-14.6834	19.0554	0.93062	0.0:0.0:1.0:0.0	.	162	P41240	CSK_HUMAN	E	162;162;111;162	ENSP00000220003:G162E;ENSP00000414764:G162E;ENSP00000438808:G162E	ENSP00000220003:G162E	G	+	2	0	CSK	72879828	1.000000	0.71417	0.968000	0.41197	0.992000	0.81027	7.304000	0.78882	2.837000	0.97791	0.655000	0.94253	GGA		0.617	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		A	75092775	G	A	75092775	3	1	418	1	0	0	0	0	1	0	0	0	3945	1174	41	2	503	2	CSK	15	75092775	Missense_Mutation	SNP	G	TCGA-BP-5009-01A-01D-1462-08		75092775	27438617	38	22779											
PRSS36	146547	broad.mit.edu;hgsc.bcm.edu	37	16	31160816	31160816	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr16:31160816A>G	ENST00000268281.4	-	3	135	c.77T>C	c.(76-78)cTc>cCc	p.L26P	PRSS36_ENST00000418068.2_Missense_Mutation_p.L26P|PRSS36_ENST00000569305.1_Missense_Mutation_p.L26P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	26						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.L26P(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGTAGGACTGAGAGCTGGGAG	0.592																																																1	Substitution - Missense(1)	kidney(1)											73	68	70					16																	31160816		2197	4300	6497	SO:0001583	missense	146547			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.77T>C	16.37:g.31160816A>G	ENSP00000268281:p.Leu26Pro		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010378	0.35511	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.82167	-1.58;-1.58	4.87	2.61	0.31194	.	.	.	.	.	T	0.66056	0.2751	N	0.12182	0.205	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.51687	-0.8674	9	0.30078	T	0.28	.	6.6914	0.23174	0.8061:0.0:0.1939:0.0	.	26;26;26	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	P	26	ENSP00000268281:L26P;ENSP00000407160:L26P	ENSP00000268281:L26P	L	-	2	0	PRSS36	31068317	0.000000	0.05858	0.001000	0.08648	0.553000	0.35397	0.044000	0.13992	0.308000	0.22923	0.366000	0.22137	CTC		0.592	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		G	31160816	A	G	31160816	3	3	418	1	0	0	0	0	1	0	0	0	12630	304	11	3	2542	3	PRSS36	16	31160816	Missense_Mutation	SNP	A	TCGA-BP-5009-01A-01D-1462-08		31160816	59193937	39	22780											
WDR81	124997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1633775	1633775	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr17:1633775T>C	ENST00000409644.1	+	2	3769	c.3769T>C	c.(3769-3771)Tat>Cat	p.Y1257H	WDR81_ENST00000309182.5_Missense_Mutation_p.Y206H|WDR81_ENST00000419248.1_Missense_Mutation_p.Y30H|WDR81_ENST00000437219.2_Missense_Mutation_p.Y54H|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_5'UTR|WDR81_ENST00000446363.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1257					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.Y206H(1)|p.Y1257H(1)|p.Y54H(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACGTCTTGTTATGTTGGTAA	0.642																																																3	Substitution - Missense(3)	kidney(3)											37	34	35					17																	1633775		2203	4297	6500	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3769T>C	17.37:g.1633775T>C	ENSP00000386609:p.Tyr1257His		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	T	32	5.169662	0.94768	.	.	ENSG00000167716	ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644	T;T;T;T;T	0.44482	2.09;2.09;2.09;0.92;2.09	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.975;0.996;0.994	T	0.69851	-0.5033	10	0.87932	D	0	.	15.5549	0.76184	0.0:0.0:0.0:1.0	.	54;384;206	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	H	54;54;206;30;1257	ENSP00000395226:Y54H;ENSP00000391074:Y54H;ENSP00000312074:Y206H;ENSP00000407845:Y30H;ENSP00000386609:Y1257H	ENSP00000312074:Y206H	Y	+	1	0	WDR81	1580525	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.686000	0.84128	2.082000	0.62665	0.450000	0.29827	TAT		0.642	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		C	1633775	T	C	1633775	3	2	418	1	0	0	0	0	1	0	0	0	17335	1754	61	3	3837	3	WDR81	17	1633775	Missense_Mutation	SNP	T	TCGA-BP-5009-01A-01D-1462-08		1633775	79561435	40	22781											
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7680805	7680805	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr17:7680805C>A	ENST00000572933.1	+	33	6560	c.5100C>A	c.(5098-5100)aaC>aaA	p.N1700K	DNAH2_ENST00000389173.2_Missense_Mutation_p.N1700K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1700	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N1700K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAGGGGGAACTTGACCAAGA	0.493																																																1	Substitution - Missense(1)	kidney(1)											305	298	301					17																	7680805		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5100C>A	17.37:g.7680805C>A	ENSP00000458355:p.Asn1700Lys		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113480	0.20795	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.21734	1.99	5.51	3.5	0.40072	.	0.054606	0.64402	D	0.000001	T	0.11110	0.0271	L	0.28014	0.82	0.80722	D	1	B	0.25563	0.129	B	0.20184	0.028	T	0.07443	-1.0772	10	0.02654	T	1	.	9.6106	0.39661	0.0:0.7699:0.0:0.2301	.	1700	Q9P225	DYH2_HUMAN	K	1700	ENSP00000373825:N1700K	ENSP00000353818:N1700K	N	+	3	2	DNAH2	7621530	0.969000	0.33509	1.000000	0.80357	0.998000	0.95712	0.523000	0.22925	1.327000	0.45338	0.585000	0.79938	AAC		0.493	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7680805	C	A	7680805	3	1	418	1	0	0	0	0	1	0	0	0	4604	564	20	4	5226	4	DNAH2	17	7680805	Missense_Mutation	SNP	C	TCGA-BP-5009-01A-01D-1462-08	6047030	7680805	73514405	41	22782											
JUP	3728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39927930	39927930	+	Silent	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr17:39927930G>A	ENST00000393931.3	-	2	295	c.177C>T	c.(175-177)acC>acT	p.T59T	JUP_ENST00000393930.1_Silent_p.T59T|JUP_ENST00000540235.1_Silent_p.T59T|JUP_ENST00000310706.5_Silent_p.T59T	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	59					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.T59T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGGTGTAAGTGGTGGTTTTCT	0.632																																					Colon(16;42 520 6044 17852 28530)											1	Substitution - coding silent(1)	kidney(1)											78	80	79					17																	39927930		2203	4300	6503	SO:0001819	synonymous_variant	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.177C>T	17.37:g.39927930G>A			Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	CCDS11407.1																																																																																				0.632	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			A	39927930	G	A	39927930	2	1	418	1	0	0	0	0	0	0	0	1	7974	1335	47	2		2	JUP	17	39927930	Silent	SNP	G	TCGA-BP-5009-01A-01D-1462-08	32247125	39927930	41267280	42	22783											
SLC4A1	6521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42338113	42338113	+	Missense_Mutation	SNP	C	C	T	rs372860708		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr17:42338113C>T	ENST00000262418.6	-	5	394	c.239G>A	c.(238-240)cGc>cAc	p.R80H	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	80	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.R80H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGCACCCAGCGCGCCGCCTC	0.617																																																1	Substitution - Missense(1)	kidney(1)											67	63	64					17																	42338113		2203	4300	6503	SO:0001583	missense	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.239G>A	17.37:g.42338113C>T	ENSP00000262418:p.Arg80His		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.282679	0.40394	.	.	ENSG00000004939	ENST00000262418	D	0.85773	-2.03	5.51	-9.83	0.00482	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.327353	0.32314	N	0.006266	T	0.81143	0.4761	L	0.49455	1.56	0.44067	D	0.996811	B;D	0.67145	0.179;0.996	B;P	0.53988	0.033;0.739	D	0.86023	0.1508	10	0.51188	T	0.08	.	11.0118	0.47667	0.0893:0.2239:0.0:0.6868	.	80;80	E2RVJ0;P02730	.;B3AT_HUMAN	H	80	ENSP00000262418:R80H	ENSP00000262418:R80H	R	-	2	0	SLC4A1	39693639	0.848000	0.29623	0.027000	0.17364	0.197000	0.23852	-0.028000	0.12350	-1.676000	0.01457	-1.165000	0.01757	CGC		0.617	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		T	42338113	C	T	42338113	3	4	418	1	0	0	0	0	1	0	0	0	14656	768	27	1	2560	1	SLC4A1	17	42338113	Missense_Mutation	SNP	C	TCGA-BP-5009-01A-01D-1462-08	2410183	42338113	38857097	43	22784											
CALCOCO2	10241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46928942	46928944	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	GAT	GAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr17:46928942_46928944delGAT	ENST00000258947.3	+	7	755_757	c.654_656delGAT	c.(652-657)aagatg>aag	p.M219del	CALCOCO2_ENST00000448105.2_In_Frame_Del_p.M243del|CALCOCO2_ENST00000508679.1_In_Frame_Del_p.M147del|CALCOCO2_ENST00000509507.1_In_Frame_Del_p.M240del|CALCOCO2_ENST00000416445.2_In_Frame_Del_p.M177del	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	219					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AAAACCAGAAGATGTCCTCAGAA	0.419																																																0																																										SO:0001651	inframe_deletion	10241			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.654_656delGAT	17.37:g.46928942_46928944delGAT	ENSP00000258947:p.Met219del		B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	In_Frame_Del	DEL	ENST00000258947.3	37	CCDS11538.1																																																																																				0.419	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		-	46928944	GAT	-	46928942	7	5	418	1	0	1	0	1	0	0	0	0	2580	933	33	0	676	0	CALCOCO2	17	46928942	In_Frame_Del	DEL	GAT	TCGA-BP-5009-01A-01D-1462-08	4590829	46928942	34266268	44	22785											
ECSIT	51295	hgsc.bcm.edu	37	19	11618629	11618630	+	Frame_Shift_Ins	INS	-	-	G	rs34803265|rs536766936|rs145047143	byFrequency	TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr19:11618629_11618630insG	ENST00000270517.7	-	6	967_968	c.832_833insC	c.(832-834)cgcfs	p.R278fs	ECSIT_ENST00000591352.1_5'UTR|CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000592312.1_Frame_Shift_Ins_p.A209fs|ECSIT_ENST00000417981.2_Frame_Shift_Ins_p.R64fs|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000252440.7_Intron|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	278			R -> C (in dbSNP:rs34803265). {ECO:0000269|Ref.1}.		BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TGGATTGTGGCGGGCCAGGGCG	0.629																																																0																																										SO:0001589	frameshift_variant	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.833dupC	19.37:g.11618632_11618632dupG	ENSP00000270517:p.Arg278fs		E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Frame_Shift_Ins	INS	ENST00000270517.7	37	CCDS12262.1																																																																																				0.629	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		G	11618630	-	G	11618629	7	5	418	1	0	1	1	0	0	0	0	0	4902	768	27	0	474	0	ECSIT	19	11618629	Frame_Shift_Ins	INS	-	TCGA-BP-5009-01A-01D-1462-08		11618629	47510354	45	22786											
ZNF564	163050	hgsc.bcm.edu;ucsc.edu	37	19	12637642	12637643	+	Frame_Shift_Ins	INS	-	-	CA	rs370399489		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr19:12637642_12637643insCA	ENST00000339282.7	-	4	1475_1476	c.1279_1280insTG	c.(1279-1281)gggfs	p.G427fs	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GAAGGCTTTCCCACATACCTGA	0.396																																																0																																										SO:0001589	frameshift_variant	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1278_1279dupTG	19.37:g.12637645_12637646dupCA	ENSP00000340004:p.Gly427fs		B9EGT4|Q6P1K6	Frame_Shift_Ins	INS	ENST00000339282.7	37	CCDS42505.1																																																																																				0.396	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		CA	12637643	-	CA	12637642	7	5	418	1	0	1	1	0	0	0	0	0	18000	623	22	0	385	0	ZNF564	19	12637642	Frame_Shift_Ins	INS	-	TCGA-BP-5009-01A-01D-1462-08	1019013	12637642	46491341	46	22787											
EML2	24139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46136177	46136177	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr19:46136177T>C	ENST00000245925.3	-	6	502	c.452A>G	c.(451-453)cAc>cGc	p.H151R	EML2_ENST00000589876.1_Missense_Mutation_p.H151R|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000587152.1_Missense_Mutation_p.H352R|EML2_ENST00000536630.1_Missense_Mutation_p.H298R	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	151	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.H151R(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCCCAGCACGTGTAAGGTGGA	0.622																																																1	Substitution - Missense(1)	kidney(1)											108	91	97					19																	46136177		2203	4300	6503	SO:0001583	missense	24139			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.452A>G	19.37:g.46136177T>C	ENSP00000245925:p.His151Arg		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455809	0.84209	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.38560	1.13;1.13;5.09	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	L	0.32530	0.975	0.80722	D	1	D;P;D;D;P	0.89917	1.0;0.928;0.999;1.0;0.928	D;P;D;D;P	0.87578	0.998;0.742;0.991;0.996;0.609	T	0.33033	-0.9884	10	0.11485	T	0.65	-30.8838	12.649	0.56751	0.0:0.0:0.0:1.0	.	151;317;298;309;151	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	R	298;151;352;309	ENSP00000442365:H298R;ENSP00000245925:H151R;ENSP00000382503:H309R	ENSP00000245925:H151R	H	-	2	0	EML2	50828017	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.416000	0.80143	2.075000	0.62263	0.460000	0.39030	CAC		0.622	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		C	46136177	T	C	46136177	3	2	418	1	0	0	0	0	1	0	0	0	5099	1696	59	3	1553	3	EML2	19	46136177	Missense_Mutation	SNP	T	TCGA-BP-5009-01A-01D-1462-08	33498535	46136177	12992806	47	22788											
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57327329	57327329	+	Silent	SNP	T	T	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr19:57327329T>C	ENST00000326441.9	-	10	2844	c.2481A>G	c.(2479-2481)ggA>ggG	p.G827G	PEG3_ENST00000593695.1_Silent_p.G701G|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.G827G|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.G703G|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	827					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G827G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGTATTCCCTTCCTTCAGAGG	0.453																																																2	Substitution - coding silent(2)	kidney(2)											117	112	114					19																	57327329		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2481A>G	19.37:g.57327329T>C			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			C	57327329	T	C	57327329	2	2	418	1	0	0	0	0	0	0	0	1	11722	1770	62	3		3	PEG3	19	57327329	Silent	SNP	T	TCGA-BP-5009-01A-01D-1462-08	11191152	57327329	1801654	48	22789											
CHM	1121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	85213896	85213896	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chrX:85213896A>C	ENST00000357749.2	-	6	818	c.789T>G	c.(787-789)atT>atG	p.I263M	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.I115M	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	263					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.I263M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GAAATGCAAGAATCCTGGTAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											90	81	84					X																	85213896		2203	4300	6503	SO:0001583	missense	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.789T>G	X.37:g.85213896A>C	ENSP00000350386:p.Ile263Met		A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987103	0.53934	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85861	-2.04;-2.04	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.83012	2.62	0.46478	D	0.999067	D	0.89917	1.0	D	0.87578	0.998	D	0.91589	0.5285	10	0.54805	T	0.06	-3.9815	9.6703	0.40008	0.8424:0.0:0.0:0.1576	.	263	P24386	RAE1_HUMAN	M	263;115	ENSP00000350386:I263M;ENSP00000441728:I115M	ENSP00000350386:I263M	I	-	3	3	CHM	85100552	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.856000	0.27818	1.605000	0.50152	0.345000	0.21793	ATT		0.353	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		C	85213896	A	C	85213896	3	2	418	1	0	0	0	0	1	0	0	0	3352	242	9	5	1212	5	CHM	23	85213896	Missense_Mutation	SNP	A	TCGA-BP-5009-01A-01D-1462-08		85213896	70056664	49	22790											
CLSTN1	22883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	9801267	9801267	+	Silent	SNP	C	C	T	rs149205224		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:9801267C>T	ENST00000377298.4	-	10	2196	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	CLSTN1_ENST00000377288.3_Silent_p.P468P|CLSTN1_ENST00000361311.4_Silent_p.P458P	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	468					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.P468P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAGTCACACTCGGGAATTCTA	0.527																																																1	Substitution - coding silent(1)	kidney(1)						C	,	0,4406		0,0,2203	155	140	145		1404,1374	-10.7	0	1	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CLSTN1	NM_001009566.1,NM_014944.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	468/982,458/972	9801267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1404G>A	1.37:g.9801267C>T			A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	CCDS30580.1																																																																																				0.527	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			T	9801267	C	T	9801267	2	4	419	1	0	0	0	0	0	0	0	1	3563	871	31	1		1	CLSTN1	1	9801267	Silent	SNP	C	TCGA-BP-5010-01A-02D-1421-08		9801267	239449354	1	22791											
EIF4G3	8672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21221941	21221941	+	Silent	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:21221941G>A	ENST00000264211.8	-	11	2079	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L	EIF4G3_ENST00000602326.1_Silent_p.L635L|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000537738.1_Silent_p.L82L|EIF4G3_ENST00000374937.3_Silent_p.L635L|EIF4G3_ENST00000400422.1_Silent_p.L629L|EIF4G3_ENST00000544689.1_Silent_p.L172L|EIF4G3_ENST00000374935.3_Silent_p.L349L|EIF4G3_ENST00000536266.1_Silent_p.L233L	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	629	EIF4E-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L629L(1)|p.L635L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGTCCAGCAGAAACTCCCTG	0.458																																																2	Substitution - coding silent(2)	kidney(2)											112	111	111					1																	21221941		2203	4300	6503	SO:0001819	synonymous_variant	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1885C>T	1.37:g.21221941G>A			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																				0.458	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		A	21221941	G	A	21221941	2	1	419	1	0	0	0	0	0	0	0	1	5040	933	33	2		2	EIF4G3	1	21221941	Silent	SNP	G	TCGA-BP-5010-01A-02D-1421-08	11420674	21221941	228028680	2	22792											
ZSCAN20	7579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33956856	33956856	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:33956856C>A	ENST00000361328.3	+	6	1151	c.998C>A	c.(997-999)aCt>aAt	p.T333N	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.T279N	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	333					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T333N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGACCAAGACTTTCCTGGCA	0.517																																																1	Substitution - Missense(1)	kidney(1)											60	67	65					1																	33956856		2009	4207	6216	SO:0001583	missense	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.998C>A	1.37:g.33956856C>A	ENSP00000355053:p.Thr333Asn		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213592	0.79352	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.46451	0.87	5.74	5.74	0.90152	SANT domain, DNA binding (1);	0.090974	0.48286	D	0.000187	T	0.68622	0.3021	M	0.88512	2.96	0.38752	D	0.954126	D;D;D	0.69078	0.996;0.989;0.997	D;P;D	0.65323	0.925;0.836;0.934	T	0.76019	-0.3112	10	0.87932	D	0	-10.5363	15.8024	0.78463	0.0:1.0:0.0:0.0	.	333;279;333	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	N	279;333;279;267;267	ENSP00000362512:T279N	ENSP00000324450:T333N	T	+	2	0	ZSCAN20	33729443	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	4.237000	0.58681	2.884000	0.98904	0.655000	0.94253	ACT		0.517	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		A	33956856	C	A	33956856	3	1	419	1	0	0	0	0	1	0	0	0	18237	565	20	4	1016	4	ZSCAN20	1	33956856	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	12734915	33956856	215293765	3	22793											
DENND2C	163259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	115144173	115144173	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:115144173A>C	ENST00000393274.1	-	13	2396	c.1771T>G	c.(1771-1773)Tac>Gac	p.Y591D	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.Y591D|DENND2C_ENST00000393276.3_Missense_Mutation_p.Y534D	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	591	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Y534D(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCATGCAGTATACCTCAGGG	0.363																																																1	Substitution - Missense(1)	kidney(1)											191	203	199					1																	115144173		2203	4300	6503	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1771T>G	1.37:g.115144173A>C	ENSP00000376955:p.Tyr591Asp		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135730	0.77662	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.13089	2.62;2.62;2.62	5.54	5.54	0.83059	DENN (3);	0.055869	0.64402	D	0.000001	T	0.33147	0.0853	M	0.89214	3.015	0.54753	D	0.999986	P;P	0.49559	0.848;0.925	P;P	0.60682	0.875;0.878	T	0.32929	-0.9888	10	0.87932	D	0	.	15.73	0.77794	1.0:0.0:0.0:0.0	.	591;534	Q68D51;Q68D51-3	DEN2C_HUMAN;.	D	534;591;591;591	ENSP00000376957:Y534D;ENSP00000376955:Y591D;ENSP00000376958:Y591D	ENSP00000358553:Y591D	Y	-	1	0	DENND2C	114945696	1.000000	0.71417	0.943000	0.38184	0.841000	0.47740	4.696000	0.61774	2.129000	0.65627	0.477000	0.44152	TAC		0.363	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		C	115144173	A	C	115144173	3	2	419	1	0	0	0	0	1	0	0	0	4432	449	16	5	1051	5	DENND2C	1	115144173	Missense_Mutation	SNP	A	TCGA-BP-5010-01A-02D-1421-08	81187317	115144173	134106448	4	22794											
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	144912241	144912241	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:144912241C>A	ENST00000369354.3	-	15	2223	c.2034G>T	c.(2032-2034)caG>caT	p.Q678H	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q744H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q465H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.Q841H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q815H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q815H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q678H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q678H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q678H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q841H|PDE4DIP_ENST00000524974.1_5'Flank			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	678					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.Q678H(2)|p.Q841H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCGCAGGGCCTGTAATTCTG	0.433			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	3	Substitution - Missense(3)	kidney(3)											82	80	81					1																	144912241		2203	4300	6503	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2034G>T	1.37:g.144912241C>A	ENSP00000358360:p.Gln678His		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514556	0.27123	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.17213	4.29;4.36;4.36;4.4;4.39;3.4;3.41;2.32;2.33;2.29	5.53	3.67	0.42095	.	.	.	.	.	T	0.20251	0.0487	L	0.56769	1.78	0.80722	D	1	D;B;B;B;P;B	0.76494	0.999;0.088;0.01;0.151;0.64;0.036	D;B;B;B;B;B	0.65874	0.939;0.056;0.012;0.133;0.148;0.01	T	0.01420	-1.1359	9	0.56958	D	0.05	.	8.2974	0.31993	0.0:0.8191:0.0:0.1809	.	841;465;678;841;744;678	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	744;678;678;841;815;815;678;678;841;841;465	ENSP00000327209:Q744H;ENSP00000358360:Q678H;ENSP00000358363:Q678H;ENSP00000435654:Q815H;ENSP00000358366:Q815H;ENSP00000358357:Q678H;ENSP00000358355:Q678H;ENSP00000316434:Q841H;ENSP00000433392:Q841H;ENSP00000436791:Q465H	ENSP00000327209:Q744H	Q	-	3	2	PDE4DIP	143623598	0.897000	0.30589	1.000000	0.80357	0.416000	0.31233	0.168000	0.16622	0.722000	0.32252	-0.142000	0.14014	CAG		0.433	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		A	144912241	C	A	144912241	3	1	419	1	0	0	0	0	1	0	0	0	11645	680	24	4	5136	4	PDE4DIP	1	144912241	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	29768068	144912241	104338380	5	22795											
OAZ3	51686	broad.mit.edu;hgsc.bcm.edu	37	1	151740624	151740624	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:151740624T>G	ENST00000321531.5	+	4	426	c.259T>G	c.(259-261)Tct>Gct	p.S87A	RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000479764.1_Intron|OAZ3_ENST00000453029.2_Missense_Mutation_p.S100A|RP11-98D18.16_ENST00000596133.1_RNA|OAZ3_ENST00000315067.8_Missense_Mutation_p.S87A|RP11-98D18.3_ENST00000512280.1_RNA			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	132					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489)	p.S131A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CTCCCAGACCTCTGCCCATTG	0.567																																																1	Substitution - Missense(1)	kidney(1)											91	91	91					1																	151740624		1984	4146	6130	SO:0001583	missense	51686			AF175296	CCDS58028.1	1q21.3	2008-02-05			ENSG00000143450	ENSG00000143450			8097	protein-coding gene	gene with protein product		605138				10781085	Standard	NM_016178		Approved		uc010pdm.2	Q9UMX2	OTTHUMG00000013061	ENST00000321531.5:c.259T>G	1.37:g.151740624T>G	ENSP00000313922:p.Ser87Ala		E7EUE7|Q6GMR0	Missense_Mutation	SNP	ENST00000321531.5	37	CCDS58028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.77|12.77	2.038644|2.038644	0.35989|0.35989	.|.	.|.	ENSG00000143450|ENSG00000143450	ENST00000453029|ENST00000315067;ENST00000321531	.|T;T	.|0.46819	.|0.86;0.91	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Acyl-CoA N-acyltransferase (1);	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.40767|0.40767	0.1130|0.1130	L|L	0.50333|0.50333	1.59|1.59	0.31146|0.31146	N|N	0.7061|0.7061	.|D;P	.|0.56746	.|0.977;0.951	.|P;P	.|0.57152	.|0.814;0.76	T|T	0.34850|0.34850	-0.9812|-0.9812	5|10	.|0.16420	.|T	.|0.52	-12.3982|-12.3982	13.214|13.214	0.59844|0.59844	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|67;84	.|D3DV23;Q9UMX2	.|.;OAZ3_HUMAN	R|A	56|87;131	.|ENSP00000357820:S87A;ENSP00000313922:S131A	.|ENSP00000357820:S87A	L|S	+|+	2|1	0|0	OAZ3|OAZ3	150007248|150007248	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.154000|0.154000	0.21943|0.21943	2.616000|2.616000	0.46376|0.46376	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.567	OAZ3-004	KNOWN	non_canonical_other|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276842.3	NM_016178		G	151740624	T	G	151740624	3	3	419	1	0	0	0	0	1	0	0	0	10808	1551	54	5	441	5	OAZ3	1	151740624	Missense_Mutation	SNP	T	TCGA-BP-5010-01A-02D-1421-08	6828383	151740624	97509997	6	22796											
MEF2D	4209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156446973	156446973	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:156446973C>T	ENST00000348159.4	-	7	1166	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	MEF2D_ENST00000368240.2_Missense_Mutation_p.R229Q|MEF2D_ENST00000353795.3_Missense_Mutation_p.R183Q|MEF2D_ENST00000340875.5_Missense_Mutation_p.R228Q|MEF2D_ENST00000360595.3_Missense_Mutation_p.R229Q|MEF2D_ENST00000464356.2_Missense_Mutation_p.R228Q	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	229					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R229Q(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGGAAGCCCGAGCACTGAC	0.552																																																1	Substitution - Missense(1)	kidney(1)											63	58	60					1																	156446973		2203	4300	6503	SO:0001583	missense	4209			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.686G>A	1.37:g.156446973C>T	ENSP00000271555:p.Arg229Gln		D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	C	36	5.647066	0.96714	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.61627	0.1;0.12;0.09;0.48;0.09;0.1	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.977;0.998	D;P;D	0.83275	0.996;0.556;0.951	T	0.79027	-0.1971	10	0.87932	D	0	-21.4834	17.7854	0.88536	0.0:1.0:0.0:0.0	.	234;229;229	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	Q	229;228;229;183;229;228	ENSP00000271555:R229Q;ENSP00000343159:R228Q;ENSP00000357223:R229Q;ENSP00000344705:R183Q;ENSP00000353803:R229Q;ENSP00000388505:R228Q	ENSP00000343159:R228Q	R	-	2	0	MEF2D	154713597	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.298000	0.78815	2.544000	0.85801	0.655000	0.94253	CGG		0.552	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		T	156446973	C	T	156446973	3	4	419	1	0	0	0	0	1	0	0	0	9460	652	23	1	903	1	MEF2D	1	156446973	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	4706349	156446973	92803648	7	22797											
SIPA1L2	57568	broad.mit.edu;hgsc.bcm.edu	37	1	232651061	232651061	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:232651061C>A	ENST00000366630.1	-	2	383	c.25G>T	c.(25-27)Gaa>Taa	p.E9*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.E9*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	9					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.E9*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGCTTCTCTTCTTGTGACTGC	0.453																																																1	Substitution - Nonsense(1)	kidney(1)											49	49	49					1																	232651061		1889	4123	6012	SO:0001587	stop_gained	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.25G>T	1.37:g.232651061C>A	ENSP00000355589:p.Glu9*		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	40	8.286598	0.98742	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	.	.	.	5.4	4.49	0.54785	.	0.488680	0.23263	N	0.050102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-21.9117	14.0936	0.65006	0.0:0.9283:0.0:0.0717	.	.	.	.	X	9	.	ENSP00000262861:E9X	E	-	1	0	SIPA1L2	230717684	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.733000	0.55029	1.515000	0.48885	0.555000	0.69702	GAA		0.453	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		A	232651061	C	A	232651061	4	1	419	1	0	0	0	0	0	1	0	0	14336	922	32	4	5227	4	SIPA1L2	1	232651061	Nonsense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	76204088	232651061	16599560	8	22798											
PFN4	375189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	24338472	24338472	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr2:24338472A>T	ENST00000313213.4	-	5	742	c.371T>A	c.(370-372)cTa>cAa	p.L124Q	PFN4_ENST00000465360.1_5'UTR	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	124					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)	p.L124Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTTTTCTTAGGTAGTCTCC	0.299																																																1	Substitution - Missense(1)	kidney(1)											91	86	88					2																	24338472		2202	4299	6501	SO:0001583	missense	375189			BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.371T>A	2.37:g.24338472A>T	ENSP00000322170:p.Leu124Gln		Q53TL9	Missense_Mutation	SNP	ENST00000313213.4	37	CCDS1709.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543059	0.65198	.	.	ENSG00000176732	ENST00000313213	D	0.95238	-3.65	4.08	4.08	0.47627	.	0.126886	0.35838	N	0.002949	D	0.96074	0.8721	M	0.83774	2.66	0.40752	D	0.982927	P	0.51791	0.948	P	0.57548	0.823	D	0.96340	0.9250	10	0.87932	D	0	-4.5942	9.734	0.40377	1.0:0.0:0.0:0.0	.	124	Q8NHR9	PROF4_HUMAN	Q	124	ENSP00000322170:L124Q	ENSP00000322170:L124Q	L	-	2	0	PFN4	24191976	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.473000	0.53122	2.073000	0.62155	0.482000	0.46254	CTA		0.299	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2	NM_199346		T	24338472	A	T	24338472	3	4	419	1	0	0	0	0	1	0	0	0	11772	420	15	5	22	5	PFN4	2	24338472	Missense_Mutation	SNP	A	TCGA-BP-5010-01A-02D-1421-08		24338472	218860901	9	22799											
XPO1	7514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61706022	61706022	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr2:61706022T>C	ENST00000401558.2	-	25	3876	c.3149A>G	c.(3148-3150)cAt>cGt	p.H1050R	RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.H1050R|XPO1_ENST00000406957.1_Missense_Mutation_p.H1050R|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	1050					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.H1050R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTGACGTTTATGTTTCTCTTC	0.378			Mis		CLL																																	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	1	Substitution - Missense(1)	kidney(1)											156	154	155					2																	61706022		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.3149A>G	2.37:g.61706022T>C	ENSP00000384863:p.His1050Arg		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	T	1.822	-0.471939	0.04445	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	N	0.00152	-1.975	0.54753	D	0.999983	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43637	-0.9379	9	0.02654	T	1	-20.0408	15.9952	0.80234	0.0:0.0:0.0:1.0	.	697;1050	B3KWD0;O14980	.;XPO1_HUMAN	R	1050	.	ENSP00000384863:H1050R	H	-	2	0	XPO1	61559526	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.256000	0.72473	2.172000	0.68678	0.533000	0.62120	CAT		0.378	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		C	61706022	T	C	61706022	3	2	419	1	0	0	0	0	1	0	0	0	17450	1464	51	3	70	3	XPO1	2	61706022	Missense_Mutation	SNP	T	TCGA-BP-5010-01A-02D-1421-08	37367550	61706022	181493351	10	22800											
CNOT10	25904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	32750281	32750281	+	Silent	SNP	T	T	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr3:32750281T>A	ENST00000328834.5	+	4	715	c.399T>A	c.(397-399)ggT>ggA	p.G133G	CNOT10_ENST00000331889.6_Silent_p.G133G|CNOT10_ENST00000538368.1_5'UTR|CNOT10_ENST00000454516.2_Silent_p.G193G	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	133					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G133G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TATCAGTTGGTGAAAAACTTT	0.353																																																1	Substitution - coding silent(1)	kidney(1)											112	109	110					3																	32750281		2203	4300	6503	SO:0001819	synonymous_variant	25904			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.399T>A	3.37:g.32750281T>A			B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Silent	SNP	ENST00000328834.5	37	CCDS2655.1																																																																																				0.353	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		A	32750281	T	A	32750281	2	1	419	1	0	0	0	0	0	0	0	1	3620	1683	59	5		5	CNOT10	3	32750281	Silent	SNP	T	TCGA-BP-5010-01A-02D-1421-08		32750281	165272149	11	22801											
SCN10A	6336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38798548	38798548	+	Silent	SNP	G	G	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr3:38798548G>T	ENST00000449082.2	-	8	1052	c.1053C>A	c.(1051-1053)cgC>cgA	p.R351R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	351					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R351R(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTGTCATGAGGCGGAACAGTG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											80	81	80					3																	38798548		2203	4300	6503	SO:0001819	synonymous_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1053C>A	3.37:g.38798548G>T			A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.522	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		T	38798548	G	T	38798548	2	4	419	1	0	0	0	0	0	0	0	1	13918	1190	42	4		4	SCN10A	3	38798548	Silent	SNP	G	TCGA-BP-5010-01A-02D-1421-08	6048267	38798548	159223882	12	22802											
TWF2	11344	broad.mit.edu;ucsc.edu	37	3	52273016	52273016	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr3:52273016C>T	ENST00000305533.5	-	1	260	c.17G>A	c.(16-18)gGc>gAc	p.G6D	TWF2_ENST00000499914.2_Missense_Mutation_p.G6D|TLR9_ENST00000597542.1_5'UTR|RP5-1157M23.2_ENST00000464958.1_RNA|RP5-1157M23.2_ENST00000483834.1_RNA	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	6	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)	p.G6D(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCGTGGATGCCCGTTTGGTG	0.751																																																1	Substitution - Missense(1)	kidney(1)											11	12	12					3																	52273016		2015	4017	6032	SO:0001583	missense	11344			Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"protein tyrosine kinase 9-like (A6-related protein)", "PTK9L protein tyrosine kinase 9-like (A6-related protein)", "twinfilin, actin-binding protein, homolog 2 (Drosophila)"	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.17G>A	3.37:g.52273016C>T	ENSP00000303908:p.Gly6Asp		Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250815	0.95305	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.41400	1.0;1.0	4.66	4.66	0.58398	Actin-binding, cofilin/tropomyosin type (1);	.	.	.	.	T	0.69424	0.3109	M	0.89601	3.045	0.51012	D	0.999908	D;D	0.71674	0.998;0.988	D;D	0.74348	0.983;0.91	T	0.76852	-0.2806	9	0.87932	D	0	.	14.3845	0.66934	0.0:1.0:0.0:0.0	.	6;6	D6RG15;Q6IBS0	.;TWF2_HUMAN	D	6	ENSP00000303908:G6D;ENSP00000426464:G6D	ENSP00000303908:G6D	G	-	2	0	TWF2	52248056	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.109000	0.57824	2.419000	0.82065	0.561000	0.74099	GGC		0.751	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			T	52273016	C	T	52273016	3	4	419	1	0	0	0	0	1	0	0	0	16787	739	26	2	1068	2	TWF2	3	52273016	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	13474468	52273016	145749414	13	22803											
CCDC80	151887	hgsc.bcm.edu;ucsc.edu	37	3	112357355	112357356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr3:112357355_112357356insT	ENST00000206423.3	-	2	2350_2351	c.1397_1398insA	c.(1396-1398)aacfs	p.N466fs	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Frame_Shift_Ins_p.N466fs	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	466					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TGTCCATGCGGTTGTCCCGGAA	0.609																																																0																																										SO:0001589	frameshift_variant	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1398dupA	3.37:g.112357357_112357357dupT	ENSP00000206423:p.Asn466fs		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Frame_Shift_Ins	INS	ENST00000206423.3	37	CCDS2968.1																																																																																				0.609	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		T	112357356	-	T	112357355	7	5	419	1	0	1	1	0	0	0	0	0	2856	1252	44	0	1482	0	CCDC80	3	112357355	Frame_Shift_Ins	INS	-	TCGA-BP-5010-01A-02D-1421-08	60084339	112357355	85665075	14	22804											
KLF3	51274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	38698861	38698861	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr4:38698861A>G	ENST00000261438.5	+	6	1320	c.1015A>G	c.(1015-1017)Agg>Ggg	p.R339G		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	339					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R339G(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TGCCCTCCATAGGAAACGCCA	0.522																																																1	Substitution - Missense(1)	kidney(1)											210	178	189					4																	38698861		2203	4300	6503	SO:0001583	missense	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.1015A>G	4.37:g.38698861A>G	ENSP00000261438:p.Arg339Gly		Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.903817	0.52333	.	.	ENSG00000109787	ENST00000261438	T	0.70164	-0.46	5.61	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	L	0.44542	1.39	0.80722	D	1	P	0.51791	0.948	B	0.43783	0.431	T	0.64356	-0.6427	10	0.72032	D	0.01	.	12.9378	0.58325	0.8649:0.1351:0.0:0.0	.	339	P57682	KLF3_HUMAN	G	339	ENSP00000261438:R339G	ENSP00000261438:R339G	R	+	1	2	KLF3	38375256	1.000000	0.71417	0.849000	0.33467	0.985000	0.73830	2.775000	0.47702	0.922000	0.37019	0.528000	0.53228	AGG		0.522	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			G	38698861	A	G	38698861	3	3	419	1	0	0	0	0	1	0	0	0	8349	411	15	3	1033	3	KLF3	4	38698861	Missense_Mutation	SNP	A	TCGA-BP-5010-01A-02D-1421-08		38698861	152455415	15	22805											
KDR	3791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	55955623	55955623	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr4:55955623C>A	ENST00000263923.4	-	25	3617	c.3322G>T	c.(3322-3324)Ggg>Tgg	p.G1108W	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G1108W(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCTTTACCCCAGGATATGGA	0.383			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - Missense(1)	kidney(1)											66	64	65					4																	55955623		2203	4300	6503	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3322G>T	4.37:g.55955623C>A	ENSP00000263923:p.Gly1108Trp		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019273	0.75275	.	.	ENSG00000128052	ENST00000263923	D	0.91180	-2.8	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95316	0.8480	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95622	0.8682	10	0.87932	D	0	.	15.851	0.78930	0.1362:0.8638:0.0:0.0	.	1108	P35968	VGFR2_HUMAN	W	1108	ENSP00000263923:G1108W	ENSP00000263923:G1108W	G	-	1	0	KDR	55650380	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.818000	0.86416	2.611000	0.88343	0.467000	0.42956	GGG		0.383	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			A	55955623	C	A	55955623	3	1	419	1	0	0	0	0	1	0	0	0	8141	594	21	4	772	4	KDR	4	55955623	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	17256762	55955623	135198653	16	22806											
CD180	4064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66481767	66481767	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr5:66481767A>C	ENST00000256447.4	-	2	326	c.169T>G	c.(169-171)Ttt>Gtt	p.F57V		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	57					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F57V(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AATTCCAAAAATTCTGTTGTG	0.338																																																1	Substitution - Missense(1)	kidney(1)											89	93	92					5																	66481767		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.169T>G	5.37:g.66481767A>C	ENSP00000256447:p.Phe57Val		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	A	8.231	0.804708	0.16467	.	.	ENSG00000134061	ENST00000256447	T	0.78816	-1.21	5.54	-7.89	0.01174	.	1.033940	0.07673	N	0.935740	T	0.56819	0.2011	L	0.27053	0.805	0.23936	N	0.996417	B	0.02656	0.0	B	0.01281	0.0	T	0.43310	-0.9399	10	0.14252	T	0.57	.	8.6937	0.34282	0.1474:0.4345:0.0:0.4181	.	57	Q99467	CD180_HUMAN	V	57	ENSP00000256447:F57V	ENSP00000256447:F57V	F	-	1	0	CD180	66517523	0.073000	0.21202	0.892000	0.35008	0.471000	0.32888	-1.005000	0.03674	-0.986000	0.03498	-0.527000	0.04329	TTT		0.338	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		C	66481767	A	C	66481767	3	2	419	1	0	0	0	0	1	0	0	0	2974	101	4	5	1824	5	CD180	5	66481767	Missense_Mutation	SNP	A	TCGA-BP-5010-01A-02D-1421-08		66481767	114433493	17	22807											
RAD17	5884	hgsc.bcm.edu;ucsc.edu	37	5	68682089	68682090	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr5:68682089_68682090delTT	ENST00000509734.1	+	9	1492_1493	c.814_815delTT	c.(814-816)tttfs	p.F272fs	RAD17_ENST00000305138.4_Frame_Shift_Del_p.F261fs|RAD17_ENST00000354312.3_Frame_Shift_Del_p.F261fs|RAD17_ENST00000345306.6_Frame_Shift_Del_p.F261fs|RAD17_ENST00000354868.5_Frame_Shift_Del_p.F261fs|RAD17_ENST00000282891.6_Frame_Shift_Del_p.F175fs|RAD17_ENST00000521422.1_Frame_Shift_Del_p.F96fs|RAD17_ENST00000380774.3_Frame_Shift_Del_p.F272fs|RAD17_ENST00000358030.2_Frame_Shift_Del_p.F96fs|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000361732.2_Frame_Shift_Del_p.F261fs			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	272					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AAGGTTATTGTTTCCCAAAGAA	0.292								Other conserved DNA damage response genes																																								0																																										SO:0001589	frameshift_variant	5884			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.814_815delTT	5.37:g.68682089_68682090delTT	ENSP00000426191:p.Phe272fs		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Frame_Shift_Del	DEL	ENST00000509734.1	37	CCDS4003.1																																																																																				0.292	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		-	68682090	TT	-	68682089	7	5	419	1	0	1	0	1	0	0	0	0	12985	1725	60	0	853	0	RAD17	5	68682089	Frame_Shift_Del	DEL	TT	TCGA-BP-5010-01A-02D-1421-08	2200322	68682089	112233171	18	22808											
RASGRF2	5924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	80511696	80511696	+	Splice_Site	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr5:80511696C>A	ENST00000265080.4	+	24	3423	c.3356C>A	c.(3355-3357)aCa>aAa	p.T1119K	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1119	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.|Responsible of the affinity for farnesylated versus geranylgeranylated Ras. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1119K(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTTTTTAGACAAAAGCTCTA	0.299																																																1	Substitution - Missense(1)	kidney(1)											14	16	15					5																	80511696		2114	4219	6333	SO:0001630	splice_region_variant	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3355-1C>A	5.37:g.80511696C>A			B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537077	0.85812	.	.	ENSG00000113319	ENST00000265080	T	0.30714	1.52	5.96	5.96	0.96718	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.213645	0.47455	D	0.000224	T	0.41305	0.1153	L	0.52573	1.65	0.80722	D	1	P	0.37141	0.584	P	0.45343	0.477	T	0.02743	-1.1116	10	0.31617	T	0.26	.	20.0324	0.97544	0.0:1.0:0.0:0.0	.	1119	O14827	RGRF2_HUMAN	K	1119	ENSP00000265080:T1119K	ENSP00000265080:T1119K	T	+	2	0	RASGRF2	80547452	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	ACA		0.299	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	Missense_Mutation	A	80511696	C	A	80511696	5	1	419	1	0	0	0	0	0	0	1	0	13079	492	17	4	3450	4	RASGRF2	5	80511696	Splice_Site	SNP	C	TCGA-BP-5010-01A-02D-1421-08	11829607	80511696	100403564	19	22809											
PCDHB11	56125	hgsc.bcm.edu;ucsc.edu	37	5	140580451	140580453	+	In_Frame_Del	DEL	TAG	TAG	-	rs371620966	byFrequency	TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	TAG	TAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr5:140580451_140580453delTAG	ENST00000354757.3	+	1	1104_1106	c.1104_1106delTAG	c.(1102-1107)tttagt>ttt	p.S369del	PCDHB11_ENST00000536699.1_In_Frame_Del_p.S4del	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	369	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATGGTTTTTAGTATCCAAGAT	0.414																																																0																																										SO:0001651	inframe_deletion	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1104_1106delTAG	5.37:g.140580451_140580453delTAG	ENSP00000346802:p.Ser369del		B4DSF7|Q2M223	In_Frame_Del	DEL	ENST00000354757.3	37	CCDS4253.1																																																																																				0.414	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		-	140580453	TAG	-	140580451	7	5	419	1	0	1	0	1	0	0	0	0	11538	1751	61	0	1106	0	PCDHB11	5	140580451	In_Frame_Del	DEL	TAG	TCGA-BP-5010-01A-02D-1421-08	60068755	140580451	40334809	20	22810											
CAGE1	285782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7373333	7373333	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:7373333C>T	ENST00000512086.1	-	5	1921	c.1719G>A	c.(1717-1719)gaG>gaA	p.E573E	CAGE1_ENST00000502583.1_Silent_p.E573E|CAGE1_ENST00000338150.4_Silent_p.E573E|CAGE1_ENST00000379918.4_Silent_p.E573E|CAGE1_ENST00000296742.7_Silent_p.E437E|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	573								p.E573E(2)|p.E437E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TCAAGACTTCCTCTAATTGAT	0.348																																																3	Substitution - coding silent(3)	kidney(3)											124	107	112					6																	7373333		1850	4084	5934	SO:0001819	synonymous_variant	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1719G>A	6.37:g.7373333C>T			D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Silent	SNP	ENST00000512086.1	37																																																																																					0.348	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		T	7373333	C	T	7373333	2	4	419	1	0	0	0	0	0	0	0	1	2574	680	24	2		2	CAGE1	6	7373333	Silent	SNP	C	TCGA-BP-5010-01A-02D-1421-08		7373333	163741734	21	22811											
GPLD1	2822	hgsc.bcm.edu;ucsc.edu	37	6	24473886	24473886	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:24473886G>A	ENST00000230036.1	-	6	561	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	151					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TAGGAGCCGTGAAAATCAATC	0.398																																																0													47	46	47					6																	24473886		2203	4300	6503	SO:0001583	missense	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.451C>T	6.37:g.24473886G>A	ENSP00000230036:p.His151Tyr		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920305	0.33908	.	.	ENSG00000112293	ENST00000230036;ENST00000378243	T	0.38240	1.15	5.04	4.16	0.48862	.	0.157646	0.44097	N	0.000499	T	0.11580	0.0282	L	0.35793	1.09	0.30262	N	0.793078	B;B	0.22541	0.002;0.071	B;B	0.25759	0.002;0.063	T	0.15549	-1.0433	10	0.27082	T	0.32	-15.2608	8.155	0.31162	0.1897:0.0:0.8103:0.0	.	151;151	P80108-2;P80108	.;PHLD_HUMAN	Y	151	ENSP00000230036:H151Y	ENSP00000230036:H151Y	H	-	1	0	GPLD1	24581865	1.000000	0.71417	0.973000	0.42090	0.736000	0.42039	3.712000	0.54875	1.072000	0.40860	0.557000	0.71058	CAC		0.398	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		A	24473886	G	A	24473886	3	1	419	1	0	0	0	0	1	0	0	0	6616	1290	45	2	2192	2	GPLD1	6	24473886	Missense_Mutation	SNP	G	TCGA-BP-5010-01A-02D-1421-08	17100553	24473886	146641181	22	22812											
TTBK1	84630	broad.mit.edu;hgsc.bcm.edu	37	6	43252048	43252048	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:43252048C>A	ENST00000259750.4	+	14	3653	c.3570C>A	c.(3568-3570)agC>agA	p.S1190R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1190				S -> SS (in Ref. 5; AAH36764). {ECO:0000305}.	substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S1190R(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCATCACCAGCAGGTGAGAAA	0.667																																																1	Substitution - Missense(1)	kidney(1)											10	13	12					6																	43252048		1579	3191	4770	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3570C>A	6.37:g.43252048C>A	ENSP00000259750:p.Ser1190Arg		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217190	0.39201	.	.	ENSG00000146216	ENST00000259750	T	0.52983	0.64	5.3	4.42	0.53409	.	0.245550	0.28834	N	0.013994	T	0.44705	0.1306	L	0.54323	1.7	0.80722	D	1	D	0.59357	0.985	P	0.55055	0.767	T	0.44097	-0.9350	10	0.54805	T	0.06	.	10.5064	0.44836	0.0:0.9087:0.0:0.0913	.	1190	Q5TCY1	TTBK1_HUMAN	R	1190	ENSP00000259750:S1190R	ENSP00000259750:S1190R	S	+	3	2	TTBK1	43360026	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.770000	0.55310	2.488000	0.83962	0.561000	0.74099	AGC		0.667	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			A	43252048	C	A	43252048	3	1	419	1	0	0	0	0	1	0	0	0	16681	709	25	4	3620	4	TTBK1	6	43252048	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	18778162	43252048	127863019	23	22813											
CYP39A1	51302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46563727	46563727	+	Silent	SNP	A	A	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:46563727A>T	ENST00000275016.2	-	8	1265	c.1062T>A	c.(1060-1062)atT>atA	p.I354I		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	354					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)	p.I354I(1)	EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AGCTTACCAAAATTTCCACAG	0.338																																																1	Substitution - coding silent(1)	kidney(1)											97	103	101					6																	46563727		2203	4300	6503	SO:0001819	synonymous_variant	51302			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1062T>A	6.37:g.46563727A>T			Q5VTT0|Q96FW5	Silent	SNP	ENST00000275016.2	37	CCDS4916.1																																																																																				0.338	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			T	46563727	A	T	46563727	2	4	419	1	0	0	0	0	0	0	0	1	4179	10	1	5		5	CYP39A1	6	46563727	Silent	SNP	A	TCGA-BP-5010-01A-02D-1421-08	3311679	46563727	124551340	24	22814											
C6orf138	442213	broad.mit.edu;ucsc.edu	37	6	48035980	48035980	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:48035980C>A	ENST00000339488.4	-	1	445	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L	PTCHD4_ENST00000543600.1_Missense_Mutation_p.V121L	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	138						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.V138L(1)									ATTTCCAGCACGGCTCGGTGG	0.498																																																1	Substitution - Missense(1)	kidney(1)											89	93	92					6																	48035980		1867	4105	5972	SO:0001583	missense	0				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.412G>T	6.37:g.48035980C>A	ENSP00000341914:p.Val138Leu		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.26|15.26	2.782215|2.782215	0.49891|0.49891	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000398738|ENST00000339488;ENST00000543600	.|D;T	.|0.93763	.|-3.28;0.32	5.13|5.13	4.27|4.27	0.50696|0.50696	.|.	.|0.067843	.|0.64402	.|D	.|0.000011	D|D	0.87485|0.87485	0.6189|0.6189	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|P;B	.|0.49447	.|0.924;0.186	.|P;B	.|0.48840	.|0.592;0.071	D|D	0.86811|0.86811	0.1998|0.1998	5|10	.|0.08599	.|T	.|0.76	.|.	15.8072|15.8072	0.78524|0.78524	0.0:0.8634:0.1366:0.0|0.0:0.8634:0.1366:0.0	.|.	.|138;121	.|Q6ZW05;B0QZ29	.|CF138_HUMAN;.	L|L	137|138;121	.|ENSP00000341914:V138L;ENSP00000439864:V121L	.|ENSP00000341914:V138L	R|V	-|-	2|1	0|0	C6orf138|C6orf138	48143939|48143939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.401000|7.401000	0.79962|0.79962	1.160000|1.160000	0.42584|0.42584	-0.216000|-0.216000	0.12614|0.12614	CGT|GTG		0.498	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		A	48035980	C	A	48035980	3	1	419	1	0	0	0	0	1	0	0	0	2334	536	19	4	2140	4	C6orf138	6	48035980	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	1472253	48035980	123079087	25	22815											
KLHL31	401265	broad.mit.edu;hgsc.bcm.edu	37	6	53520057	53520057	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:53520057T>A	ENST00000407079.1	-	1	13	c.14A>T	c.(13-15)aAg>aTg	p.K5M	KLHL31_ENST00000370905.3_Missense_Mutation_p.K5M			Q9H511	KLH31_HUMAN	kelch-like family member 31	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.K5M(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GACAATCTTCTTTTTGGGTGC	0.358																																																1	Substitution - Missense(1)	kidney(1)											81	73	76					6																	53520057		2202	4300	6502	SO:0001583	missense	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.14A>T	6.37:g.53520057T>A	ENSP00000384644:p.Lys5Met		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.397265	0.62177	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.72835	-0.69;-0.69	6.16	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.36672	1.1	0.49915	D	0.999837	D	0.67145	0.996	P	0.54499	0.754	T	0.67749	-0.5590	10	0.62326	D	0.03	.	12.1753	0.54182	0.0:0.066:0.0:0.934	.	5	Q9H511	KLH31_HUMAN	M	5	ENSP00000359942:K5M;ENSP00000384644:K5M	ENSP00000359942:K5M	K	-	2	0	KLHL31	53628016	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	1.157000	0.42530	0.528000	0.53228	AAG		0.358	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		A	53520057	T	A	53520057	3	1	419	1	0	0	0	0	1	0	0	0	8387	1609	56	5	1898	5	KLHL31	6	53520057	Missense_Mutation	SNP	T	TCGA-BP-5010-01A-02D-1421-08	5484077	53520057	117595010	26	22816											
COX7A2	1347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	75947673	75947673	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:75947673C>T	ENST00000230459.4	-	4	418	c.225G>A	c.(223-225)gtG>gtA	p.V75V	COX7A2_ENST00000460985.1_Silent_p.V45V|COX7A2_ENST00000472311.2_Nonsense_Mutation_p.W47*|COX7A2_ENST00000509698.1_Silent_p.V83V|COX7A2_ENST00000370081.2_Silent_p.V107V|COX7A2_ENST00000370089.2_Silent_p.V107V	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	75						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.V75V(1)		kidney(2)|lung(1)	3						GAAATGAAGCCACAGCCAGCT	0.358																																																1	Substitution - coding silent(1)	kidney(1)											50	48	49					6																	75947673		2203	4300	6503	SO:0001819	synonymous_variant	1347			X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.225G>A	6.37:g.75947673C>T			B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Silent	SNP	ENST00000230459.4	37		.	.	.	.	.	.	.	.	.	.	C	13.88	2.368645	0.42003	.	.	ENSG00000112695	ENST00000472311	.	.	.	5.7	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6781	8.1006	0.30854	0.1595:0.7598:0.0:0.0807	.	.	.	.	X	47	.	ENSP00000423432:W47X	W	-	2	0	COX7A2	76004393	0.404000	0.25328	0.996000	0.52242	0.591000	0.36615	0.417000	0.21214	2.678000	0.91216	0.655000	0.94253	TGG		0.358	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001865		T	75947673	C	T	75947673	2	4	419	1	0	0	0	0	0	0	0	1	3782	581	21	2		2	COX7A2	6	75947673	Silent	SNP	C	TCGA-BP-5010-01A-02D-1421-08	22427616	75947673	95167394	27	22817											
MICAL1	64780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	109774523	109774523	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:109774523C>G	ENST00000358807.3	-	4	825	c.514G>C	c.(514-516)Ggg>Cgg	p.G172R	MICAL1_ENST00000358577.3_Missense_Mutation_p.G172R|MICAL1_ENST00000368952.4_Missense_Mutation_p.G191R|MICAL1_ENST00000483856.1_5'Flank	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	172	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G172R(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ATTTCCACCCCCAGCAGCAAT	0.577																																																1	Substitution - Missense(1)	kidney(1)											62	63	63					6																	109774523		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.514G>C	6.37:g.109774523C>G	ENSP00000351664:p.Gly172Arg		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008354	0.93346	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.80847	2.515	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.64228	-0.6457	10	0.56958	D	0.05	.	17.4359	0.87552	0.0:1.0:0.0:0.0	.	191;172;172	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	R	172;191;172;172	ENSP00000351664:G172R;ENSP00000357948:G191R;ENSP00000351385:G172R;ENSP00000407075:G172R	ENSP00000351385:G172R	G	-	1	0	MICAL1	109881216	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.023000	0.70848	2.714000	0.92807	0.561000	0.74099	GGG		0.577	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		G	109774523	C	G	109774523	3	3	419	1	0	0	0	0	1	0	0	0	9571	623	22	4	2777	4	MICAL1	6	109774523	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	33826850	109774523	61340544	28	22818											
RFX6	222546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	117241586	117241586	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:117241586C>T	ENST00000332958.2	+	12	1312	c.1296C>T	c.(1294-1296)agC>agT	p.S432S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	432					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.S432S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCAGGCAGCACAGACACTG	0.408																																																1	Substitution - coding silent(1)	kidney(1)											196	173	181					6																	117241586		2203	4300	6503	SO:0001819	synonymous_variant	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1296C>T	6.37:g.117241586C>T			Q5T6B3	Silent	SNP	ENST00000332958.2	37	CCDS5113.1																																																																																				0.408	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		T	117241586	C	T	117241586	2	4	419	1	0	0	0	0	0	0	0	1	13273	709	25	2		2	RFX6	6	117241586	Silent	SNP	C	TCGA-BP-5010-01A-02D-1421-08	7467063	117241586	53873481	29	22819											
MAS1	4142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160328147	160328147	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:160328147C>A	ENST00000252660.4	+	1	174	c.160C>A	c.(160-162)Ctc>Atc	p.L54I		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	54					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)	p.L54I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TGGGATTCTCCTCTGGTTCCT	0.502																																																1	Substitution - Missense(1)	kidney(1)											226	219	221					6																	160328147		2203	4300	6503	SO:0001583	missense	4142			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"GPCR / Class A : Orphans"	6899	protein-coding gene	gene with protein product		165180	"MAS1 oncogene"				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.160C>A	6.37:g.160328147C>A	ENSP00000252660:p.Leu54Ile		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121306	0.20877	.	.	ENSG00000130368	ENST00000252660	T	0.70749	-0.51	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.134110	0.33834	N	0.004518	T	0.35248	0.0925	N	0.20445	0.575	0.42982	D	0.99446	B	0.31879	0.344	B	0.33392	0.163	T	0.38585	-0.9654	10	0.02654	T	1	.	13.7792	0.63073	0.1533:0.8467:0.0:0.0	.	54	P04201	MAS_HUMAN	I	54	ENSP00000252660:L54I	ENSP00000252660:L54I	L	+	1	0	MAS1	160248137	0.949000	0.32298	0.998000	0.56505	0.761000	0.43186	1.532000	0.36029	2.701000	0.92244	0.655000	0.94253	CTC		0.502	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		A	160328147	C	A	160328147	3	1	419	1	0	0	0	0	1	0	0	0	9322	681	24	4	162	4	MAS1	6	160328147	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	43086561	160328147	10786920	30	22820											
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu	37	7	48634311	48634311	+	Silent	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr7:48634311G>A	ENST00000435803.1	+	58	14670	c.14646G>A	c.(14644-14646)gaG>gaA	p.E4882E	ABCA13_ENST00000544596.1_Silent_p.E612E	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4882	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E4882E(1)|p.E4827E(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAGGATGAGCCCAGCTCTG	0.493																																																2	Substitution - coding silent(2)	kidney(2)											119	117	118					7																	48634311		1934	4146	6080	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14646G>A	7.37:g.48634311G>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48634311	G	A	48634311	2	1	419	1	0	0	0	0	0	0	0	1	31	962	34	2		2	ABCA13	7	48634311	Silent	SNP	G	TCGA-BP-5010-01A-02D-1421-08		48634311	110504352	31	22821											
FBXL13	222235	hgsc.bcm.edu;ucsc.edu	37	7	102517966	102517966	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr7:102517966delT	ENST00000313221.4	-	16	2009	c.1583delA	c.(1582-1584)aacfs	p.N528fs	FBXL13_ENST00000379308.3_Frame_Shift_Del_p.N528fs|FBXL13_ENST00000393772.2_Frame_Shift_Del_p.N528fs|FBXL13_ENST00000436908.1_Frame_Shift_Del_p.N528fs|FBXL13_ENST00000455112.2_Frame_Shift_Del_p.N528fs|FBXL13_ENST00000379305.3_Frame_Shift_Del_p.N528fs|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	528										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GGAAAAGATGTTTACAATATA	0.303																																																0													77	80	79					7																	102517966		2203	4294	6497	SO:0001589	frameshift_variant	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1583delA	7.37:g.102517966delT	ENSP00000321927:p.Asn528fs		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Frame_Shift_Del	DEL	ENST00000313221.4	37	CCDS5726.1																																																																																				0.303	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		-	102517966	T	-	102517966	7	5	419	1	0	1	0	1	0	0	0	0	5711	1725	60	0	644	0	FBXL13	7	102517966	Frame_Shift_Del	DEL	T	TCGA-BP-5010-01A-02D-1421-08	53883655	102517966	56620697	32	22822											
NUP205	23165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	135298932	135298932	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr7:135298932C>T	ENST00000285968.6	+	23	3247	c.3221C>T	c.(3220-3222)tCt>tTt	p.S1074F		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1074					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.S1074F(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGTGCATGCTCTGATACATCT	0.358																																																1	Substitution - Missense(1)	kidney(1)											176	162	167					7																	135298932		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3221C>T	7.37:g.135298932C>T	ENSP00000285968:p.Ser1074Phe		A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126255	0.77549	.	.	ENSG00000155561	ENST00000285968	T	0.31247	1.5	5.69	4.8	0.61643	.	0.151857	0.64402	D	0.000009	T	0.36717	0.0977	L	0.52573	1.65	0.80722	D	1	P	0.46656	0.882	P	0.45343	0.477	T	0.28106	-1.0054	10	0.72032	D	0.01	-6.7408	16.6616	0.85242	0.0:0.8701:0.1299:0.0	.	1074	Q92621	NU205_HUMAN	F	1074	ENSP00000285968:S1074F	ENSP00000285968:S1074F	S	+	2	0	NUP205	134949472	1.000000	0.71417	0.987000	0.45799	0.943000	0.58893	7.416000	0.80143	1.389000	0.46526	-0.302000	0.09304	TCT		0.358	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			T	135298932	C	T	135298932	3	4	419	1	0	0	0	0	1	0	0	0	10761	913	32	2	3311	2	NUP205	7	135298932	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	32780966	135298932	23839731	33	22823											
CDCA2	157313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	25327412	25327412	+	Splice_Site	SNP	A	A	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr8:25327412A>G	ENST00000330560.3	+	7	1213	c.736A>G	c.(736-738)Ata>Gta	p.I246V	CDCA2_ENST00000380665.3_Splice_Site_p.I231V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	246					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I246V(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTCCCCAAGATATCATCTAA	0.333																																																1	Substitution - Missense(1)	kidney(1)											88	90	89					8																	25327412		2203	4300	6503	SO:0001630	splice_region_variant	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.736-1A>G	8.37:g.25327412A>G			Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	A	4.761	0.141447	0.09083	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.29655	1.56;1.56	4.9	2.57	0.30868	.	0.424216	0.22692	N	0.056809	T	0.12646	0.0307	N	0.08118	0	0.19775	N	0.999952	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22765	-1.0207	9	.	.	.	-14.3889	5.9811	0.19407	0.7988:0.0:0.2012:0.0	.	246;231;246	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	V	246;231	ENSP00000328228:I246V;ENSP00000370040:I231V	.	I	+	1	0	CDCA2	25383329	1.000000	0.71417	0.931000	0.37212	0.117000	0.20001	1.117000	0.31234	1.003000	0.39130	0.528000	0.53228	ATA		0.333	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562	Missense_Mutation	G	25327412	A	G	25327412	5	3	419	1	0	0	0	0	0	0	1	0	3088	347	12	3	758	3	CDCA2	8	25327412	Splice_Site	SNP	A	TCGA-BP-5010-01A-02D-1421-08		25327412	121036610	34	22824											
PCMTD1	115294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	52746175	52746175	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr8:52746175C>T	ENST00000360540.5	-	5	891	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	PCMTD1_ENST00000522514.1_Missense_Mutation_p.R162Q|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R86Q	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	162						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R162Q(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ACAATAAATTCGATCATACTG	0.363																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											144	129	134					8																	52746175		2203	4300	6503	SO:0001583	missense	115294				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.485G>A	8.37:g.52746175C>T	ENSP00000353739:p.Arg162Gln		Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836588|4.836588	0.91117|0.91117	.|.	.|.	ENSG00000168300|ENSG00000168300	ENST00000519554|ENST00000360540;ENST00000544451;ENST00000522514	.|T;T;T	.|0.41400	.|1.0;1.0;1.0	5.2|5.2	3.38|3.38	0.38709|0.38709	.|.	.|0.124846	.|0.56097	.|D	.|0.000034	T|T	0.68118|0.68118	0.2966|0.2966	M|M	0.89534|0.89534	3.04|3.04	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;P;D	.|0.89917	.|0.998;0.998;0.545;1.0	.|D;D;B;D	.|0.97110	.|0.992;0.992;0.039;1.0	T|T	0.74200|0.74200	-0.3742|-0.3742	5|10	.|0.59425	.|D	.|0.04	-42.8563|-42.8563	12.0488|12.0488	0.53495|0.53495	0.0:0.8575:0.0:0.1425|0.0:0.8575:0.0:0.1425	.|.	.|79;32;86;162	.|Q658R8;B4E2B4;F5H1M8;Q96MG8	.|.;.;.;PCMD1_HUMAN	K|Q	54|162;86;162	.|ENSP00000353739:R162Q;ENSP00000444026:R86Q;ENSP00000428099:R162Q	.|ENSP00000353739:R162Q	E|R	-|-	1|2	0|0	PCMTD1|PCMTD1	52908728|52908728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	6.060000|6.060000	0.71141|0.71141	1.195000|1.195000	0.43115|0.43115	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.363	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		T	52746175	C	T	52746175	3	4	419	1	0	0	0	0	1	0	0	0	11588	884	31	1	600	1	PCMTD1	8	52746175	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	27418763	52746175	93617847	35	22825											
CREB3	57704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35736114	35736114	+	IGR	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr9:35736114C>T	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000353704.2_Silent_p.S227S|CREB3_ENST00000486056.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.S227S(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCAGCAGCAGCACCTGCA	0.498											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											172	152	159					9																	35736114		2203	4300	6503	SO:0001628	intergenic_variant	10488			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736114C>T		857	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	CCDS6589.1																																																																																				0.498	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		T	35736114	C	T	35736114	1	4	419	0	1	0	0	0	0	0	0	0	3857	709	25	2		2	CREB3	9	35736114	IGR	SNP	C	TCGA-BP-5010-01A-02D-1421-08		35736114	105477317	36	22826											
INVS	27130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	103002449	103002449	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr9:103002449C>T	ENST00000262457.2	+	6	908	c.723C>T	c.(721-723)acC>acT	p.T241T	INVS_ENST00000262456.2_Silent_p.T241T|INVS_ENST00000541287.1_Silent_p.T145T	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	241					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.T241T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				ATGTCTTGACCTCATATGAAA	0.443																																																1	Substitution - coding silent(1)	kidney(1)											153	125	135					9																	103002449		2203	4300	6503	SO:0001819	synonymous_variant	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.723C>T	9.37:g.103002449C>T			A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	ENST00000262457.2	37	CCDS6746.1																																																																																				0.443	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		T	103002449	C	T	103002449	2	4	419	1	0	0	0	0	0	0	0	1	7789	668	24	2		2	INVS	9	103002449	Silent	SNP	C	TCGA-BP-5010-01A-02D-1421-08	67266335	103002449	38210982	37	22827											
PTEN	5728	hgsc.bcm.edu	37	10	89711969	89711970	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr10:89711969_89711970insC	ENST00000371953.3	+	6	1944_1945	c.587_588insC	c.(586-591)cacaagfs	p.K197fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	197	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.H196fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTGTTGTTTCACAAGATGATGT	0.396		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	53	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(4)|Deletion - In frame(1)|Insertion - Frameshift(1)	prostate(16)|central_nervous_system(14)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)																																								SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.588dupC	10.37:g.89711970_89711970dupC	ENSP00000361021:p.Lys197fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	CCDS31238.1																																																																																				0.396	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		C	89711970	-	C	89711969	7	5	419	1	0	1	1	0	0	0	0	0	12743	159	6	0	609	0	PTEN	10	89711969	Frame_Shift_Ins	INS	-	TCGA-BP-5010-01A-02D-1421-08		89711969	45822778	38	22828											
OR9G1	390174	hgsc.bcm.edu	37	11	56468235	56468235	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr11:56468235C>T	ENST00000312153.1	+	1	372	c.372C>T	c.(370-372)gcC>gcT	p.A124A		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GCTACGTGGCCATCTCCAAGC	0.522																																																0													152	139	144					11																	56468235		2201	4296	6497	SO:0001819	synonymous_variant	390174			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.372C>T	11.37:g.56468235C>T			Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	CCDS31536.1																																																																																				0.522	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		T	56468235	C	T	56468235	2	4	419	1	0	0	0	0	0	0	0	1	11252	581	21	2		2	OR9G1	11	56468235	Silent	SNP	C	TCGA-BP-5010-01A-02D-1421-08		56468235	78538281	39	22829											
BBS1	582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66291217	66291217	+	Missense_Mutation	SNP	A	A	C	rs199986163		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr11:66291217A>C	ENST00000318312.7	+	11	1025	c.974A>C	c.(973-975)cAg>cCg	p.Q325P	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Intron|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.Q362P|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Missense_Mutation_p.Q228P	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	325					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.Q325P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						TGGACAGTGCAGATGCCCGCA	0.617									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)											1	Substitution - Missense(1)	kidney(1)											50	43	45					11																	66291217		2200	4295	6495	SO:0001583	missense	582	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.974A>C	11.37:g.66291217A>C	ENSP00000317469:p.Gln325Pro		Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.520597	0.27211	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748	T;T;T	0.57273	0.41;0.41;0.41	5.53	2.86	0.33363	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	T	0.28433	0.0703	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.001;0.0;0.001	T	0.03139	-1.1068	9	0.30078	T	0.28	.	12.3305	0.55038	0.3692:0.6308:0.0:0.0	.	228;213;325;362	E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	P	362;325;228	ENSP00000398526:Q362P;ENSP00000317469:Q325P;ENSP00000405764:Q228P	ENSP00000317469:Q325P	Q	+	2	0	BBS1;CTD-3074O7.11	66047793	0.008000	0.16893	1.000000	0.80357	0.995000	0.86356	0.162000	0.16501	0.355000	0.24131	0.533000	0.62120	CAG		0.617	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			C	66291217	A	C	66291217	3	2	419	1	0	0	0	0	1	0	0	0	1335	188	7	5	1016	5	BBS1	11	66291217	Missense_Mutation	SNP	A	TCGA-BP-5010-01A-02D-1421-08	9822982	66291217	68715299	40	22830											
PAH	5053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	103306603	103306603	+	Missense_Mutation	SNP	A	A	T	rs199475640|rs199475628		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr12:103306603A>T	ENST00000553106.1	-	2	606	c.134T>A	c.(133-135)gTt>gAt	p.V45D	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.V40D	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	45	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.		V -> A (in PKU). {ECO:0000269|PubMed:22513348}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.V45D(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CAATGCACCAACTTCTTCTTT	0.368																																																1	Substitution - Missense(1)	kidney(1)											231	197	208					12																	103306603		2203	4300	6503	SO:0001583	missense	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.134T>A	12.37:g.103306603A>T	ENSP00000448059:p.Val45Asp		Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177429	0.78564	.	.	ENSG00000171759	ENST00000553106;ENST00000307000;ENST00000551337;ENST00000546844	D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5	5.46	5.46	0.80206	Amino acid-binding ACT (1);	0.059412	0.64402	D	0.000003	D	0.98868	0.9617	M	0.87381	2.88	0.80722	D	1	P;D	0.53462	0.902;0.96	P;P	0.50825	0.6;0.651	D	0.98985	1.0806	10	0.62326	D	0.03	-20.8024	13.057	0.58986	1.0:0.0:0.0:0.0	.	45;45	B4DPN2;P00439	.;PH4H_HUMAN	D	45;40;45;45	ENSP00000448059:V45D;ENSP00000303500:V40D;ENSP00000447620:V45D;ENSP00000446658:V45D	ENSP00000303500:V40D	V	-	2	0	PAH	101830733	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.592000	0.67543	2.058000	0.61347	0.528000	0.53228	GTT		0.368	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			T	103306603	A	T	103306603	3	4	419	1	0	0	0	0	1	0	0	0	11396	43	2	5	1272	5	PAH	12	103306603	Missense_Mutation	SNP	A	TCGA-BP-5010-01A-02D-1421-08		103306603	30545292	41	22831											
TMEM132D	121256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	130184668	130184668	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr12:130184668G>T	ENST00000422113.2	-	2	981	c.655C>A	c.(655-657)Ccg>Acg	p.P219T	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	219					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P219T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCCCCTCCGGCTGGTCCACG	0.687																																																1	Substitution - Missense(1)	kidney(1)											37	40	39					12																	130184668		2203	4300	6503	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.655C>A	12.37:g.130184668G>T	ENSP00000408581:p.Pro219Thr		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.495352	0.01009	.	.	ENSG00000151952	ENST00000422113	T	0.11604	2.76	5.35	0.645	0.17782	.	0.521615	0.18832	N	0.129936	T	0.08758	0.0217	L	0.60455	1.87	0.09310	N	1	B	0.18610	0.029	B	0.10450	0.005	T	0.28902	-1.0029	9	.	.	.	-7.5313	2.4855	0.04597	0.1323:0.3664:0.3417:0.1596	.	219	Q14C87	T132D_HUMAN	T	219	ENSP00000408581:P219T	.	P	-	1	0	TMEM132D	128750621	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.173000	0.09854	0.192000	0.20272	-0.188000	0.12872	CCG		0.687	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		T	130184668	G	T	130184668	3	4	419	1	0	0	0	0	1	0	0	0	16052	1203	42	4	2676	4	TMEM132D	12	130184668	Missense_Mutation	SNP	G	TCGA-BP-5010-01A-02D-1421-08	26878065	130184668	3667227	42	22832											
RBM26	64062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	79911406	79911406	+	Missense_Mutation	SNP	C	C	G	rs140188767		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr13:79911406C>G	ENST00000438737.2	-	19	3004	c.2564G>C	c.(2563-2565)cGg>cCg	p.R855P	RBM26_ENST00000438724.1_Missense_Mutation_p.R831P|RBM26_ENST00000267229.7_Missense_Mutation_p.R828P			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	855					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R855P(1)|p.R828P(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCCTCTGCCCCGACCAGATGA	0.532																																																2	Substitution - Missense(2)	kidney(2)											96	86	89					13																	79911406		2203	4300	6503	SO:0001583	missense	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2564G>C	13.37:g.79911406C>G	ENSP00000387531:p.Arg855Pro		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37		.	.	.	.	.	.	.	.	.	.	C	26.2	4.715585	0.89112	.	.	ENSG00000139746	ENST00000449987;ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	D;D	0.95272	-3.66;-3.66	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.97207	0.9087	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.995;0.997	D;P;P;P	0.81914	0.995;0.899;0.795;0.899	D	0.97222	0.9878	9	.	.	.	-8.7052	18.4403	0.90664	0.0:1.0:0.0:0.0	.	212;831;855;828	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	P	41;828;856;855;831	ENSP00000267229:R828P;ENSP00000390222:R831P	.	R	-	2	0	RBM26	78809407	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.421000	0.82119	0.650000	0.86243	CGG		0.532	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		G	79911406	C	G	79911406	3	3	419	1	0	0	0	0	1	0	0	0	13132	652	23	4	475	4	RBM26	13	79911406	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08		79911406	35258472	43	22833											
STRN3	29966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	31404443	31404443	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr14:31404443A>T	ENST00000357479.5	-	7	1110	c.914T>A	c.(913-915)tTt>tAt	p.F305Y	STRN3_ENST00000355683.5_Missense_Mutation_p.F305Y|STRN3_ENST00000366206.2_5'Flank	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	305					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F305Y(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TAAAAAATCAAATTCTTTCAG	0.418																																																2	Substitution - Missense(2)	kidney(2)											109	107	108					14																	31404443		2203	4300	6503	SO:0001583	missense	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.914T>A	14.37:g.31404443A>T	ENSP00000350071:p.Phe305Tyr		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	A	32	5.141287	0.94560	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000554991	T;T	0.70045	-0.45;2.21	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.80183	2.485	0.80722	D	1	D;D	0.71674	0.998;0.981	D;D	0.65684	0.937;0.931	T	0.78160	-0.2312	10	0.18710	T	0.47	0.0844	15.9178	0.79535	1.0:0.0:0.0:0.0	.	305;305	Q13033-2;Q13033	.;STRN3_HUMAN	Y	305;305;23	ENSP00000347909:F305Y;ENSP00000350071:F305Y	ENSP00000347909:F305Y	F	-	2	0	STRN3	30474194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.953000	0.93041	2.162000	0.67917	0.459000	0.35465	TTT		0.418	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		T	31404443	A	T	31404443	3	4	419	1	0	0	0	0	1	0	0	0	15335	14	1	5	1527	5	STRN3	14	31404443	Missense_Mutation	SNP	A	TCGA-BP-5010-01A-02D-1421-08		31404443	75945097	44	22834											
TTLL5	23093	hgsc.bcm.edu;ucsc.edu	37	14	76349240	76349240	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr14:76349240delT	ENST00000298832.9	+	30	3940	c.3735delT	c.(3733-3735)gctfs	p.A1245fs	TTLL5_ENST00000556893.1_Frame_Shift_Del_p.A796fs|TTLL5_ENST00000557636.1_Frame_Shift_Del_p.A1260fs|TTLL5_ENST00000554510.1_Frame_Shift_Del_p.A754fs	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1245					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGAAAGCTTCCAAGTAAG	0.428																																																0													79	93	88					14																	76349240		2203	4300	6503	SO:0001589	frameshift_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3735delT	14.37:g.76349240delT	ENSP00000298832:p.Ala1245fs		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Frame_Shift_Del	DEL	ENST00000298832.9	37	CCDS32124.1																																																																																				0.428	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		-	76349240	T	-	76349240	7	5	419	1	0	1	0	1	0	0	0	0	16735	1596	56	0	3849	0	TTLL5	14	76349240	Frame_Shift_Del	DEL	T	TCGA-BP-5010-01A-02D-1421-08	44944797	76349240	31000300	45	22835											
AQR	9716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	35196663	35196663	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr15:35196663A>T	ENST00000156471.5	-	19	2100	c.1875T>A	c.(1873-1875)ttT>ttA	p.F625L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	625					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F625L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAAACACTCTAAATGTCCTTG	0.308																																																1	Substitution - Missense(1)	kidney(1)											97	89	91					15																	35196663		1813	4075	5888	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1875T>A	15.37:g.35196663A>T	ENSP00000156471:p.Phe625Leu		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	39	7.308871	0.98203	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.92647	-3.08	5.26	4.13	0.48395	.	0.139866	0.64402	D	0.000004	T	0.81408	0.4816	N	0.21282	0.65	0.40236	D	0.977902	B	0.15473	0.013	B	0.18871	0.023	T	0.71580	-0.4550	10	0.02654	T	1	-19.8143	6.6416	0.22913	0.7755:0.0:0.2245:0.0	.	625	O60306	AQR_HUMAN	L	625	ENSP00000156471:F625L	ENSP00000156471:F625L	F	-	3	2	AQR	32983955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.635000	0.46537	2.117000	0.64856	0.533000	0.62120	TTT		0.308	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		T	35196663	A	T	35196663	3	4	419	1	0	0	0	0	1	0	0	0	835	359	13	5	2650	5	AQR	15	35196663	Missense_Mutation	SNP	A	TCGA-BP-5010-01A-02D-1421-08		35196663	67334729	46	22836											
SPG11	80208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	44877930	44877930	+	Silent	SNP	A	A	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr15:44877930A>T	ENST00000261866.7	-	29	5041	c.5025T>A	c.(5023-5025)tcT>tcA	p.S1675S	SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000427534.2_Silent_p.S1675S|SPG11_ENST00000535302.2_Silent_p.S1675S|SPG11_ENST00000558319.1_Silent_p.S1675S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1675					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.S1675S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTTCCAAAATAGATCTACATT	0.393																																																1	Substitution - coding silent(1)	kidney(1)											137	134	135					15																	44877930		2198	4298	6496	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5025T>A	15.37:g.44877930A>T			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.393	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			T	44877930	A	T	44877930	2	4	419	1	0	0	0	0	0	0	0	1	15046	407	15	5		5	SPG11	15	44877930	Silent	SNP	A	TCGA-BP-5010-01A-02D-1421-08	9681267	44877930	57653462	47	22837											
CYP1A2	1544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75042328	75042328	+	Silent	SNP	G	G	A	rs17861153	byFrequency	TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr15:75042328G>A	ENST00000343932.4	+	2	312	c.249G>A	c.(247-249)acG>acA	p.T83T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	83			T -> M (in allele CYP1A2*9). {ECO:0000269|PubMed:14563787}.		alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.T83T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	TTGGCTCCACGCCCGTGCTGG	0.667																																																1	Substitution - coding silent(1)	kidney(1)						G		2,4392	4.2+/-10.8	0,2,2195	51	46	47		249	-9.9	0	15	dbSNP_123	47	13,8579	9.8+/-36.6	0,13,4283	no	coding-synonymous	CYP1A2	NM_000761.3		0,15,6478	AA,AG,GG		0.1513,0.0455,0.1155		83/517	75042328	15,12971	2197	4296	6493	SO:0001819	synonymous_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.249G>A	15.37:g.75042328G>A			Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	CCDS32293.1																																																																																				0.667	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		A	75042328	G	A	75042328	2	1	419	1	0	0	0	0	0	0	0	1	4152	1074	38	1		1	CYP1A2	15	75042328	Silent	SNP	G	TCGA-BP-5010-01A-02D-1421-08	30164398	75042328	27489064	48	22838											
SNX33	257364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75942230	75942230	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr15:75942230G>A	ENST00000308527.5	+	1	1984	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	263	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.V263I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TGCCTCACCCGTCTACCGGCG	0.542																																																1	Substitution - Missense(1)	kidney(1)											150	136	141					15																	75942230		2197	4294	6491	SO:0001583	missense	257364			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.787G>A	15.37:g.75942230G>A	ENSP00000311427:p.Val263Ile		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922349	0.33908	.	.	ENSG00000173548	ENST00000308527	T	0.40476	1.03	5.42	5.42	0.78866	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.80422	2.495	0.80722	D	1	D	0.65815	0.995	D	0.68353	0.957	T	0.71279	-0.4640	10	0.72032	D	0.01	-18.5012	17.7863	0.88539	0.0:0.0:1.0:0.0	.	263	Q8WV41	SNX33_HUMAN	I	263	ENSP00000311427:V263I	ENSP00000311427:V263I	V	+	1	0	SNX33	73729285	1.000000	0.71417	0.952000	0.39060	0.527000	0.34593	9.867000	0.99620	2.543000	0.85770	0.561000	0.74099	GTC		0.542	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		A	75942230	G	A	75942230	3	1	419	1	0	0	0	0	1	0	0	0	14909	1145	40	1	789	1	SNX33	15	75942230	Missense_Mutation	SNP	G	TCGA-BP-5010-01A-02D-1421-08	899902	75942230	26589162	49	22839											
TARSL2	123283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	102261432	102261432	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr15:102261432T>A	ENST00000335968.3	-	3	679	c.463A>T	c.(463-465)Aag>Tag	p.K155*		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	155					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.K155*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTATCCCCCTTTTTTCCATAA	0.408																																																1	Substitution - Nonsense(1)	kidney(1)											227	208	214					15																	102261432		2203	4300	6503	SO:0001587	stop_gained	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.463A>T	15.37:g.102261432T>A	ENSP00000338093:p.Lys155*		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Nonsense_Mutation	SNP	ENST00000335968.3	37	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.148403	0.78001	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	4.1	2.96	0.34315	.	0.347464	0.33457	N	0.004887	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-16.1715	3.9015	0.09164	0.0:0.115:0.2204:0.6645	.	.	.	.	X	155	.	ENSP00000329291:K155X	K	-	1	0	TARSL2	100078955	.	.	0.011000	0.14972	0.092000	0.18411	.	.	1.642000	0.50584	0.455000	0.32223	AAG		0.408	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		A	102261432	T	A	102261432	4	1	419	1	0	0	0	0	0	1	0	0	15566	1850	64	5	2013	5	TARSL2	15	102261432	Nonsense_Mutation	SNP	T	TCGA-BP-5010-01A-02D-1421-08	26319202	102261432	269960	50	22840											
CACNA1H	8912	broad.mit.edu	37	16	1257814	1257814	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr16:1257814C>T	ENST00000348261.5	+	15	3356	c.3108C>T	c.(3106-3108)gtC>gtT	p.V1036V	CACNA1H_ENST00000358590.4_Silent_p.V1036V|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Silent_p.V1036V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1036					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.V1036V(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGACGTCGGTCCACTTCGAGG	0.622																																																2	Substitution - coding silent(2)	kidney(2)											60	62	61					16																	1257814		2078	4187	6265	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3108C>T	16.37:g.1257814C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.622	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		T	1257814	C	T	1257814	2	4	419	1	0	0	0	0	0	0	0	1	2547	842	30	2		2	CACNA1H	16	1257814	Silent	SNP	C	TCGA-BP-5010-01A-02D-1421-08		1257814	89096939	51	22841											
PDILT	204474	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20380853	20380853	+	Silent	SNP	G	G	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr16:20380853G>T	ENST00000302451.4	-	8	1325	c.1077C>A	c.(1075-1077)ctC>ctA	p.L359L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	359					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.L359L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CAAATTTCTTGAGGCTTTCGT	0.443																																																1	Substitution - coding silent(1)	kidney(1)											171	171	171					16																	20380853		2203	4300	6503	SO:0001819	synonymous_variant	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1077C>A	16.37:g.20380853G>T			Q8IVQ5	Silent	SNP	ENST00000302451.4	37	CCDS10584.1																																																																																				0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		T	20380853	G	T	20380853	2	4	419	1	0	0	0	0	0	0	0	1	11676	1277	45	4		4	PDILT	16	20380853	Silent	SNP	G	TCGA-BP-5010-01A-02D-1421-08	19123039	20380853	69973900	52	22842											
SCNN1G	6340	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	23203706	23203706	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr16:23203706A>G	ENST00000300061.2	+	4	795	c.652A>G	c.(652-654)Acc>Gcc	p.T218A	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	218					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.T218A(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGCCACCTACACCTTCAGCTC	0.483																																																1	Substitution - Missense(1)	kidney(1)											152	132	139					16																	23203706		2197	4300	6497	SO:0001583	missense	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.652A>G	16.37:g.23203706A>G	ENSP00000300061:p.Thr218Ala		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	a	20.5	4.002255	0.74932	.	.	ENSG00000166828	ENST00000300061	T	0.71103	-0.54	5.2	5.2	0.72013	.	0.217751	0.40554	N	0.001062	T	0.80869	0.4706	L	0.59912	1.85	0.31785	N	0.630429	D	0.89917	1.0	D	0.87578	0.998	T	0.82444	-0.0454	10	0.41790	T	0.15	-9.7279	14.5462	0.68032	1.0:0.0:0.0:0.0	.	218	P51170	SCNNG_HUMAN	A	218	ENSP00000300061:T218A	ENSP00000300061:T218A	T	+	1	0	SCNN1G	23111207	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.006000	0.57083	2.095000	0.63458	0.454000	0.30748	ACC		0.483	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		G	23203706	A	G	23203706	3	3	419	1	0	0	0	0	1	0	0	0	13936	159	6	3	662	3	SCNN1G	16	23203706	Missense_Mutation	SNP	A	TCGA-BP-5010-01A-02D-1421-08	2822853	23203706	67151047	53	22843											
CPNE7	27132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89657544	89657544	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr16:89657544G>A	ENST00000268720.5	+	15	1533	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D	CPNE7_ENST00000319518.8_Missense_Mutation_p.G393D	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	468	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.G468D(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGCATCCAGGGCGTGGTGGAG	0.706																																																1	Substitution - Missense(1)	kidney(1)											25	27	26					16																	89657544		2196	4296	6492	SO:0001583	missense	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1403G>A	16.37:g.89657544G>A	ENSP00000268720:p.Gly468Asp			Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252622	0.80135	.	.	ENSG00000178773	ENST00000319518;ENST00000268720;ENST00000529800	T;T;T	0.25579	1.79;1.79;1.79	3.9	3.9	0.45041	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72377	-0.4312	10	0.87932	D	0	-0.0078	15.8474	0.78903	0.0:0.0:1.0:0.0	.	393;468	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	D	393;468;113	ENSP00000317374:G393D;ENSP00000268720:G468D;ENSP00000435876:G113D	ENSP00000268720:G468D	G	+	2	0	CPNE7	88185045	1.000000	0.71417	0.969000	0.41365	0.804000	0.45430	7.324000	0.79115	1.885000	0.54596	0.556000	0.70494	GGC		0.706	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			A	89657544	G	A	89657544	3	1	419	1	0	0	0	0	1	0	0	0	3819	1203	42	2	1461	2	CPNE7	16	89657544	Missense_Mutation	SNP	G	TCGA-BP-5010-01A-02D-1421-08	66453838	89657544	697209	54	22844											
CD300LG	146894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41926061	41926061	+	Missense_Mutation	SNP	G	G	A	rs373847576		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr17:41926061G>A	ENST00000317310.4	+	2	220	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CD300LG_ENST00000539718.1_Missense_Mutation_p.R60H|CD300LG_ENST00000586233.1_Missense_Mutation_p.R60H|CD300LG_ENST00000588884.1_Missense_Mutation_p.R60H|CD300LG_ENST00000377203.4_Missense_Mutation_p.R60H|CD300LG_ENST00000293396.8_Missense_Mutation_p.R60H	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	60	Ig-like V-type.				immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R60H(1)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CTCTTCTCTCGCTGCTCTGGC	0.592																																																1	Substitution - Missense(1)	kidney(1)											91	75	80					17																	41926061		2203	4300	6503	SO:0001583	missense	146894			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.179G>A	17.37:g.41926061G>A	ENSP00000321005:p.Arg60His		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459212	0.26248	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	4.89	0.623	0.17654	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324515	0.22782	N	0.055706	T	0.03348	0.0097	L	0.38692	1.165	0.09310	N	1	B;P;P;B;P;B	0.44478	0.125;0.836;0.49;0.078;0.836;0.424	B;B;B;B;B;B	0.34536	0.052;0.177;0.099;0.038;0.177;0.185	T	0.42582	-0.9443	10	0.52906	T	0.07	-0.2003	7.5241	0.27645	0.3599:0.0:0.6401:0.0	.	60;60;60;60;60;60	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2;B4DNY5	.;.;.;CLM9_HUMAN;.;.	H	60	ENSP00000321005:R60H;ENSP00000442368:R60H;ENSP00000366408:R60H;ENSP00000293396:R60H	ENSP00000293396:R60H	R	+	2	0	CD300LG	39281587	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	0.130000	0.15850	-0.019000	0.14055	-0.136000	0.14681	CGC		0.592	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		A	41926061	G	A	41926061	3	1	419	1	0	0	0	0	1	0	0	0	3004	1087	38	1	185	1	CD300LG	17	41926061	Missense_Mutation	SNP	G	TCGA-BP-5010-01A-02D-1421-08		41926061	39269149	55	22845											
HNRNPM	4670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8528506	8528506	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr19:8528506T>A	ENST00000325495.4	+	5	415	c.374T>A	c.(373-375)aTg>aAg	p.M125K	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M125K	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	125	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.M125K(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAAGAGAGCATGAAAAAAGCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											153	127	136					19																	8528506		2203	4300	6503	SO:0001583	missense	4670			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.374T>A	19.37:g.8528506T>A	ENSP00000325376:p.Met125Lys		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.813686	0.70912	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.74421	-0.84;2.31	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.81269	0.4787	L	0.46157	1.445	0.80722	D	1	P;D;P;D	0.61697	0.93;0.988;0.832;0.99	P;P;P;P	0.62089	0.889;0.674;0.686;0.898	T	0.82659	-0.0348	10	0.72032	D	0.01	.	15.6463	0.77055	0.0:0.0:0.0:1.0	.	125;125;125;25	P52272;P52272-2;B4DEG4;Q59ES8	HNRPM_HUMAN;.;.;.	K	125;125;25	ENSP00000325376:M125K;ENSP00000325732:M125K	ENSP00000325376:M125K	M	+	2	0	HNRNPM	8434506	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	ATG		0.413	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			A	8528506	T	A	8528506	3	1	419	1	0	0	0	0	1	0	0	0	7273	1464	51	5	392	5	HNRNPM	19	8528506	Missense_Mutation	SNP	T	TCGA-BP-5010-01A-02D-1421-08		8528506	50600477	56	22846											
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu	37	19	31768802	31768802	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr19:31768802C>A	ENST00000240587.4	-	2	2224	c.1897G>T	c.(1897-1899)Ggg>Tgg	p.G633W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	633					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G633W(1)|p.G450W(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAAAGCTTCCCATCCGGCTCC	0.582																																																2	Substitution - Missense(2)	kidney(2)											38	42	40					19																	31768802		2203	4299	6502	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1897G>T	19.37:g.31768802C>A	ENSP00000240587:p.Gly633Trp		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691420	0.48097	.	.	ENSG00000121297	ENST00000240587	T	0.51574	0.7	5.3	4.24	0.50183	.	0.230323	0.43579	D	0.000542	T	0.44180	0.1281	N	0.08118	0	0.58432	D	0.999998	D	0.63046	0.992	P	0.58577	0.841	T	0.54990	-0.8210	10	0.72032	D	0.01	-19.4077	14.3026	0.66362	0.0:0.9273:0.0:0.0727	.	633	Q63HK5	TSH3_HUMAN	W	633	ENSP00000240587:G633W	ENSP00000240587:G633W	G	-	1	0	TSHZ3	36460642	0.995000	0.38212	0.831000	0.32960	0.482000	0.33219	3.626000	0.54245	1.192000	0.43071	0.585000	0.79938	GGG		0.582	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		A	31768802	C	A	31768802	3	1	419	1	0	0	0	0	1	0	0	0	16630	594	21	4	1352	4	TSHZ3	19	31768802	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	23240296	31768802	27360181	57	22847											
RUVBL2	10856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49517740	49517740	+	Splice_Site	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr19:49517740G>A	ENST00000595090.1	+	12	1465		c.e12-1		RUVBL2_ENST00000601968.1_Splice_Site|RUVBL2_ENST00000413176.2_Splice_Site	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2						ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)	p.?(1)		large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTCTTCCTCAGAATCCGGGGC	0.607																																																1	Unknown(1)	kidney(1)											50	55	53					19																	49517740		1996	4165	6161	SO:0001630	splice_region_variant	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.1002-1G>A	19.37:g.49517740G>A			B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Splice_Site	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968061	0.74131	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5784	0.84707	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RUVBL2	54209552	1.000000	0.71417	0.847000	0.33407	0.322000	0.28314	5.806000	0.69150	2.595000	0.87683	0.561000	0.74099	.		0.607	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1		Intron	A	49517740	G	A	49517740	5	1	419	1	0	0	0	0	0	0	1	0	13759	956	33	2	1047	2	RUVBL2	19	49517740	Splice_Site	SNP	G	TCGA-BP-5010-01A-02D-1421-08	17748938	49517740	9611243	58	22848											
ZNF415	55786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53612726	53612726	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr19:53612726T>C	ENST00000500065.4	-	4	905	c.572A>G	c.(571-573)aAt>aGt	p.N191S	ZNF415_ENST00000455735.2_Missense_Mutation_p.N239S|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.N191S|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.N239S|ZNF415_ENST00000421033.1_Missense_Mutation_p.N203S|ZNF415_ENST00000440291.1_Missense_Mutation_p.N178S|ZNF415_ENST00000595193.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N191S(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCCATATTTATTAGAAACATG	0.358																																																1	Substitution - Missense(1)	kidney(1)											99	93	95					19																	53612726		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.572A>G	19.37:g.53612726T>C	ENSP00000439435:p.Asn191Ser		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.958082	0.34565	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	2.74	-1.18	0.09617	.	.	.	.	.	T	0.17450	0.0419	L	0.39467	1.215	0.09310	N	1	B;B;B;B;B;D	0.58970	0.058;0.402;0.127;0.058;0.058;0.984	B;B;B;B;B;P	0.58454	0.017;0.171;0.014;0.017;0.042;0.839	T	0.13575	-1.0504	9	0.44086	T	0.13	.	3.8949	0.09135	0.0:0.144:0.4541:0.4019	.	191;239;239;191;178;203	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	S	191;191;239;203;239;178	ENSP00000243643:N191S;ENSP00000439435:N191S;ENSP00000396492:N239S;ENSP00000395055:N203S;ENSP00000388787:N239S;ENSP00000414601:N178S	ENSP00000243643:N191S	N	-	2	0	ZNF415	58304538	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.406000	0.07187	-0.501000	0.06605	0.260000	0.18958	AAT		0.358	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		C	53612726	T	C	53612726	3	2	419	1	0	0	0	0	1	0	0	0	17897	1493	52	3	1099	3	ZNF415	19	53612726	Missense_Mutation	SNP	T	TCGA-BP-5010-01A-02D-1421-08	4094986	53612726	5516257	59	22849											
SALL4	57167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	50406800	50406800	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr20:50406800A>G	ENST00000217086.4	-	2	2333	c.2222T>C	c.(2221-2223)tTt>tCt	p.F741S	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	741					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F741S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCAGGTTAAAAGGGGCAGG	0.592																																																1	Substitution - Missense(1)	kidney(1)											50	45	46					20																	50406800		2203	4300	6503	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2222T>C	20.37:g.50406800A>G	ENSP00000217086:p.Phe741Ser		A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	A	7.201	0.593432	0.13875	.	.	ENSG00000101115	ENST00000217086	T	0.08102	3.13	5.67	3.38	0.38709	.	0.863177	0.09658	N	0.772768	T	0.05364	0.0142	N	0.08118	0	0.47621	D	0.999479	B	0.14438	0.01	B	0.13407	0.009	T	0.26916	-1.0089	10	0.59425	D	0.04	-1.415	8.6165	0.33835	0.8026:0.13:0.0674:0.0	.	741	Q9UJQ4	SALL4_HUMAN	S	741	ENSP00000217086:F741S	ENSP00000217086:F741S	F	-	2	0	SALL4	49840207	0.776000	0.28616	0.005000	0.12908	0.096000	0.18686	6.237000	0.72345	0.394000	0.25230	0.533000	0.62120	TTT		0.592	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			G	50406800	A	G	50406800	3	3	419	1	0	0	0	0	1	0	0	0	13819	14	1	3	951	3	SALL4	20	50406800	Missense_Mutation	SNP	A	TCGA-BP-5010-01A-02D-1421-08		50406800	12618720	60	22850											
N6AMT1	29104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	30255320	30255320	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr21:30255320G>T	ENST00000303775.5	-	2	233	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	N6AMT1_ENST00000351429.3_Missense_Mutation_p.Q70K	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	70					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)	p.Q70K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TACAAAGCCTGAGGGCCTATC	0.343																																																1	Substitution - Missense(1)	kidney(1)											92	85	88					21																	30255320		2203	4300	6503	SO:0001583	missense	29104			AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"chromosome 21 open reading frame 127", "HemK methyltransferase family member 2"	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.208C>A	21.37:g.30255320G>T	ENSP00000303584:p.Gln70Lys		Q96F73	Missense_Mutation	SNP	ENST00000303775.5	37	CCDS33526.1	.	.	.	.	.	.	.	.	.	.	G	4.220	0.039666	0.08148	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.20881	2.59;2.04	5.34	5.34	0.76211	Methyltransferase small (1);	0.698726	0.14737	N	0.301410	T	0.11580	0.0282	N	0.17564	0.495	0.24522	N	0.994156	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.23868	-1.0176	10	0.05833	T	0.94	-6.3943	11.3879	0.49796	0.0:0.0:0.7284:0.2716	.	70;70	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	K	70	ENSP00000303584:Q70K;ENSP00000286764:Q70K	ENSP00000303584:Q70K	Q	-	1	0	N6AMT1	29177191	1.000000	0.71417	0.970000	0.41538	0.969000	0.65631	3.005000	0.49521	2.781000	0.95711	0.650000	0.86243	CAG		0.343	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240		T	30255320	G	T	30255320	3	4	419	1	0	0	0	0	1	0	0	0	10116	1299	45	4	456	4	N6AMT1	21	30255320	Missense_Mutation	SNP	G	TCGA-BP-5010-01A-02D-1421-08		30255320	17874575	61	22851											
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	41450747	41450747	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr21:41450747C>A	ENST00000400454.1	-	26	5055	c.4578G>T	c.(4576-4578)agG>agT	p.R1526S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1526	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R1526S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGAGAGAGGTCCTCTGAGCTG	0.582																																					Melanoma(134;970 1778 1785 21664 32388)											1	Substitution - Missense(1)	kidney(1)											53	60	58					21																	41450747		2121	4241	6362	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4578G>T	21.37:g.41450747C>A	ENSP00000383303:p.Arg1526Ser		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044390	0.36085	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57107	0.42;0.42	4.85	-1.67	0.08238	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058825	0.64402	D	0.000001	T	0.31513	0.0799	L	0.47190	1.495	0.38686	D	0.952655	P	0.40578	0.722	B	0.37015	0.239	T	0.22068	-1.0227	10	0.15499	T	0.54	.	2.0431	0.03554	0.1075:0.337:0.2134:0.3421	.	1526	O60469	DSCAM_HUMAN	S	1526;1278	ENSP00000383303:R1526S;ENSP00000385342:R1278S	ENSP00000383303:R1526S	R	-	3	2	DSCAM	40372617	0.439000	0.25610	0.992000	0.48379	0.886000	0.51366	-0.280000	0.08468	-0.291000	0.09012	-0.251000	0.11542	AGG		0.582	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41450747	C	A	41450747	3	1	419	1	0	0	0	0	1	0	0	0	4770	854	30	4	1492	4	DSCAM	21	41450747	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	11195427	41450747	6679148	62	22852											
MYO18B	84700	broad.mit.edu;hgsc.bcm.edu	37	22	26422488	26422488	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr22:26422488A>G	ENST00000407587.2	+	43	6720	c.6551A>G	c.(6550-6552)cAc>cGc	p.H2184R	MYO18B_ENST00000335473.7_Missense_Mutation_p.H2183R|MYO18B_ENST00000536101.1_Missense_Mutation_p.H2183R			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2183						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.H2184R(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCAATGTCCACAGCAAGACC	0.552																																																1	Substitution - Missense(1)	kidney(1)											77	85	82					22																	26422488		1972	4156	6128	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6551A>G	22.37:g.26422488A>G	ENSP00000386096:p.His2184Arg		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.050|0.050	-1.252861|-1.252861	0.01457|0.01457	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.86164|.	-2.06;-2.06;-2.08|.	5.11|5.11	-10.2|-10.2	0.00374|0.00374	.|.	4.491930|.	0.00597|.	N|.	0.000372|.	T|T	0.25938|0.25938	0.0632|0.0632	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|T	0.34254|0.34254	-0.9836|-0.9836	10|5	0.02654|.	T|.	1|.	.|.	12.7708|12.7708	0.57419|0.57419	0.4959:0.4113:0.0928:0.0|0.4959:0.4113:0.0928:0.0	.|.	1696;2185;2183;2184;2183|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	R|A	2183;2183;2184|133	ENSP00000441229:H2183R;ENSP00000334563:H2183R;ENSP00000386096:H2184R|.	ENSP00000334563:H2183R|.	H|T	+|+	2|1	0|0	MYO18B|MYO18B	24752488|24752488	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-2.169000|-2.169000	0.01269|0.01269	-2.857000|-2.857000	0.00329|0.00329	-0.930000|-0.930000	0.02707|0.02707	CAC|ACA		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		G	26422488	A	G	26422488	3	3	419	1	0	0	0	0	1	0	0	0	10068	159	6	3	6714	3	MYO18B	22	26422488	Missense_Mutation	SNP	A	TCGA-BP-5010-01A-02D-1421-08		26422488	24882078	63	22853											
C22orf9	23313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45607978	45607978	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr22:45607978C>G	ENST00000336156.5	-	2	140	c.75G>C	c.(73-75)aaG>aaC	p.K25N	KIAA0930_ENST00000492273.1_Missense_Mutation_p.K30N|KIAA0930_ENST00000496226.1_Missense_Mutation_p.K34N|KIAA0930_ENST00000251993.7_Missense_Mutation_p.K30N|KIAA0930_ENST00000443310.3_Missense_Mutation_p.K7N|KIAA0930_ENST00000391627.2_5'UTR	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	25								p.K30N(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCGGTCATCCTTGAAGCACC	0.602																																																1	Substitution - Missense(1)	kidney(1)											52	50	51					22																	45607978		2202	4300	6502	SO:0001583	missense	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.75G>C	22.37:g.45607978C>G	ENSP00000336720:p.Lys25Asn		B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820947	0.71028	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000443310;ENST00000424508	.	.	.	5.33	2.08	0.27032	.	0.146272	0.64402	D	0.000013	T	0.55433	0.1920	L	0.50333	1.59	0.54753	D	0.99998	B;P;B;B	0.39717	0.049;0.684;0.277;0.324	B;P;B;B	0.46049	0.057;0.502;0.155;0.241	T	0.56956	-0.7893	9	0.87932	D	0	-20.0148	8.875	0.35340	0.0:0.6376:0.0:0.3624	.	7;25;30;96	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	N	25;30;7;7	.	ENSP00000251993:K30N	K	-	3	2	KIAA0930	43986642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.947000	0.29082	0.637000	0.30526	0.561000	0.74099	AAG		0.602	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		G	45607978	C	G	45607978	3	3	419	1	0	0	0	0	1	0	0	0	2153	680	24	4	1175	4	C22orf9	22	45607978	Missense_Mutation	SNP	C	TCGA-BP-5010-01A-02D-1421-08	19185490	45607978	5696588	64	22854											
ZFX	7543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	24197791	24197791	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chrX:24197791G>A	ENST00000379177.1	+	6	977	c.550G>A	c.(550-552)Gac>Aac	p.D184N	ZFX_ENST00000379188.3_Missense_Mutation_p.D184N|ZFX_ENST00000338565.3_Missense_Mutation_p.D184N|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.D184N|ZFX_ENST00000540034.1_Missense_Mutation_p.D223N|ZFX_ENST00000459724.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	184					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.D184N(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATTGGTAGCAGACTGTGCCTC	0.453																																					Esophageal Squamous(20;306 562 7346 32868 37983)											1	Substitution - Missense(1)	kidney(1)											185	164	171					X																	24197791		2203	4300	6503	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.550G>A	X.37:g.24197791G>A	ENSP00000368475:p.Asp184Asn		B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759133	0.49468	.	.	ENSG00000005889	ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.97	4.22	0.49857	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000001	T	0.55226	0.1907	L	0.35593	1.075	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.995;0.999	T	0.49224	-0.8962	9	.	.	.	-36.5484	11.9816	0.53123	0.1426:0.0:0.8574:0.0	.	223;184;184;188	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	N	184;184;184;184;223;184	ENSP00000368486:D184N;ENSP00000368475:D184N;ENSP00000304985:D184N;ENSP00000441382:D223N;ENSP00000343384:D184N	.	D	+	1	0	ZFX	24107712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.094000	0.64523	0.668000	0.31126	0.600000	0.82982	GAC		0.453	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		A	24197791	G	A	24197791	3	1	419	1	0	0	0	0	1	0	0	0	17666	942	33	2	556	2	ZFX	23	24197791	Missense_Mutation	SNP	G	TCGA-BP-5010-01A-02D-1421-08		24197791	131072769	65	22855											
STAG2	10735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123179198	123179198	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chrX:123179198G>A	ENST00000371160.1	+	8	937	c.647G>A	c.(646-648)cGa>cAa	p.R216Q	STAG2_ENST00000218089.9_Missense_Mutation_p.R216Q|STAG2_ENST00000371145.3_Missense_Mutation_p.R216Q|STAG2_ENST00000371157.3_Missense_Mutation_p.R216Q|STAG2_ENST00000371144.3_Missense_Mutation_p.R216Q|STAG2_ENST00000354548.5_Missense_Mutation_p.R147Q|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	216					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R216Q(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGAGCATTTCGACATACAAGC	0.343																																																2	Substitution - Missense(2)	kidney(2)											130	124	126					X																	123179198		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.647G>A	X.37:g.123179198G>A	ENSP00000360202:p.Arg216Gln		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530868	0.96446	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	4.95	4.95	0.65309	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86653	0.5984	H	0.94542	3.55	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.71184	0.972;0.965	D	0.90921	0.4783	10	0.87932	D	0	-0.371	17.5808	0.87968	0.0:0.0:1.0:0.0	.	216;216	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	Q	216;216;147;216;216;216;216	ENSP00000218089:R216Q;ENSP00000397265:R216Q;ENSP00000346555:R147Q;ENSP00000360202:R216Q;ENSP00000360199:R216Q;ENSP00000360187:R216Q;ENSP00000360186:R216Q	ENSP00000218089:R216Q	R	+	2	0	STAG2	123006879	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.958000	0.87877	2.167000	0.68274	0.422000	0.28245	CGA		0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		A	123179198	G	A	123179198	3	1	419	1	0	0	0	0	1	0	0	0	15248	1058	37	1	669	1	STAG2	23	123179198	Missense_Mutation	SNP	G	TCGA-BP-5010-01A-02D-1421-08	98981407	123179198	32091362	66	22856											
C1orf128	57095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24106410	24106410	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:24106410C>G	ENST00000246151.4	+	3	410	c.299C>G	c.(298-300)tCa>tGa	p.S100*	RP5-886K2.3_ENST00000427796.1_RNA	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	100	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.					nucleus (GO:0005634)		p.S100*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						GATGATGACTCACACCCCTCT	0.418																																																1	Substitution - Nonsense(1)	kidney(1)											96	94	94					1																	24106410		2203	4300	6503	SO:0001587	stop_gained	0				CCDS240.1	1p36.11	2011-02-21	2011-02-21	2011-02-21	ENSG00000057757	ENSG00000057757			25022	protein-coding gene	gene with protein product	"TXNL1 C-terminal like"		"chromosome 1 open reading frame 128"	C1orf128		12477932	Standard	NM_020362		Approved	HT014, TXNL1CL	uc001bhq.3	Q9GZP4	OTTHUMG00000002960	ENST00000246151.4:c.299C>G	1.37:g.24106410C>G	ENSP00000246151:p.Ser100*		B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8	Nonsense_Mutation	SNP	ENST00000246151.4	37	CCDS240.1	.	.	.	.	.	.	.	.	.	.	C	38	6.931285	0.97944	.	.	ENSG00000057757	ENST00000246151;ENST00000415372	.	.	.	6.06	6.06	0.98353	.	0.255560	0.41294	D	0.000908	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.3263	20.6227	0.99507	0.0:1.0:0.0:0.0	.	.	.	.	X	100;7	.	ENSP00000246151:S100X	S	+	2	0	PITHD1	23978997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.129000	0.77225	2.885000	0.99019	0.643000	0.83706	TCA		0.418	PITHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008243.1	NM_020362		G	24106410	C	G	24106410	4	3	420	1	0	0	0	0	0	1	0	0	1997	838	29	4	309	4	C1orf128	1	24106410	Nonsense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08		24106410	225144211	1	22857											
BSDC1	55108	hgsc.bcm.edu;ucsc.edu	37	1	32842305	32842306	+	Frame_Shift_Del	DEL	CT	CT	-	rs376431699		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:32842305_32842306delCT	ENST00000455895.2	-	9	746_747	c.713_714delAG	c.(712-714)gagfs	p.E238fs	BSDC1_ENST00000446293.2_Frame_Shift_Del_p.E255fs|BSDC1_ENST00000526031.1_Frame_Shift_Del_p.E143fs|BSDC1_ENST00000341071.7_Frame_Shift_Del_p.E255fs|BSDC1_ENST00000449308.1_Frame_Shift_Del_p.E238fs|BSDC1_ENST00000419121.2_Frame_Shift_Del_p.E182fs|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000413080.1_Frame_Shift_Del_p.E177fs	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	238										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAACCTTTGCCTCTTTTGGAGA	0.52																																																0																																										SO:0001589	frameshift_variant	55108			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.713_714delAG	1.37:g.32842307_32842308delCT	ENSP00000412173:p.Glu238fs		B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Frame_Shift_Del	DEL	ENST00000455895.2	37	CCDS363.2																																																																																				0.52	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		-	32842306	CT	-	32842305	7	5	420	1	0	1	0	1	0	0	0	0	1530	680	24	0	590	0	BSDC1	1	32842305	Frame_Shift_Del	DEL	CT	TCGA-BP-5168-01A-01D-1421-08	8735895	32842305	216408316	2	22858											
MYCBP	26292	broad.mit.edu	37	1	39338699	39338700	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:39338699_39338700delGC	ENST00000397572.2	-	2	877_878	c.78_79delGC	c.(76-81)acgctgfs	p.L27fs	RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_3'UTR	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN	MYC binding protein	27					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				CCCTTGGTCAGCGTGTCCAGCA	0.688																																					Esophageal Squamous(155;912 1855 21572 25911 44247)											0																																										SO:0001589	frameshift_variant	26292			AB007191	CCDS431.1	1p33-p32.2	2013-07-09	2013-07-09		ENSG00000214114	ENSG00000214114			7554	protein-coding gene	gene with protein product	"associate of myc-1"	606535	"c-myc binding protein"			9797456	Standard	NM_012333		Approved	AMY-1	uc001ccs.3	Q99417	OTTHUMG00000000484	ENST00000397572.2:c.78_79delGC	1.37:g.39338699_39338700delGC	ENSP00000380702:p.Leu27fs		B2R4N0|Q5TA64|Q96HE2	Frame_Shift_Del	DEL	ENST00000397572.2	37	CCDS431.1																																																																																				0.688	MYCBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001209.1	NM_012333		-	39338700	GC	-	39338699	7	5	420	1	0	1	0	1	0	0	0	0	10019	962	34	0	248	0	MYCBP	1	39338699	Frame_Shift_Del	DEL	GC	TCGA-BP-5168-01A-01D-1421-08	6496394	39338699	209911922	3	22859											
LRRC8B	23507	broad.mit.edu;ucsc.edu	37	1	90048980	90048980	+	Silent	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:90048980A>G	ENST00000330947.2	+	5	1131	c.771A>G	c.(769-771)gtA>gtG	p.V257V	LRRC8B_ENST00000439853.1_Silent_p.V257V|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Silent_p.V257V	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	257					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V257V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTTATAGAGTATATCTGAAAC	0.383																																																1	Substitution - coding silent(1)	kidney(1)											96	94	95					1																	90048980		2203	4300	6503	SO:0001819	synonymous_variant	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.771A>G	1.37:g.90048980A>G			D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	CCDS724.1																																																																																				0.383	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		G	90048980	A	G	90048980	2	3	420	1	0	0	0	0	0	0	0	1	9024	436	16	3		3	LRRC8B	1	90048980	Silent	SNP	A	TCGA-BP-5168-01A-01D-1421-08	50710281	90048980	159201641	4	22860											
CCDC76	54482	hgsc.bcm.edu;ucsc.edu	37	1	100613814	100613814	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:100613814delT	ENST00000370141.2	+	10	1188	c.1182delT	c.(1180-1182)aatfs	p.N394fs		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	394					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ATAATCAGAATGATGATAGTG	0.408																																																0													130	125	127					1																	100613814		2203	4300	6503	SO:0001589	frameshift_variant	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.1182delT	1.37:g.100613814delT	ENSP00000359160:p.Asn394fs		Q5VVL0|Q9NW65	Frame_Shift_Del	DEL	ENST00000370141.2	37	CCDS765.1																																																																																				0.408	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		-	100613814	T	-	100613814	7	5	420	1	0	1	0	1	0	0	0	0	2852	1461	51	0	1220	0	CCDC76	1	100613814	Frame_Shift_Del	DEL	T	TCGA-BP-5168-01A-01D-1421-08	10564834	100613814	148636807	5	22861											
CACYBP	27101	hgsc.bcm.edu;ucsc.edu	37	1	174977836	174977836	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:174977836delA	ENST00000367679.2	+	5	972	c.524delA	c.(523-525)gaafs	p.E175fs	CACYBP_ENST00000405362.1_Frame_Shift_Del_p.E132fs|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000367681.2_Frame_Shift_Del_p.E132fs	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	175	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						GAGTGCAAAGAAAAAGAGTGA	0.333																																																0													70	68	69					1																	174977836		2203	4300	6503	SO:0001589	frameshift_variant	27101			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.524delA	1.37:g.174977836delA	ENSP00000356652:p.Glu175fs		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Frame_Shift_Del	DEL	ENST00000367679.2	37	CCDS1315.1																																																																																				0.333	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		-	174977836	A	-	174977836	7	5	420	1	0	1	0	1	0	0	0	0	2566	246	9	0	542	0	CACYBP	1	174977836	Frame_Shift_Del	DEL	A	TCGA-BP-5168-01A-01D-1421-08	74364022	174977836	74272785	6	22862											
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186151399	186151399	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:186151399A>T	ENST00000271588.4	+	105	16623	c.16394A>T	c.(16393-16395)cAc>cTc	p.H5465L	HMCN1_ENST00000367492.2_Missense_Mutation_p.H5348L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5465	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.H5465L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAACTCACACACAATGGAAAG	0.383																																																1	Substitution - Missense(1)	kidney(1)											116	108	111					1																	186151399		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16394A>T	1.37:g.186151399A>T	ENSP00000271588:p.His5465Leu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	9.797	1.179366	0.21787	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.94232	-3.38;-3.38;-3.38	5.42	3.07	0.35406	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.414610	0.28544	N	0.014964	T	0.81635	0.4864	N	0.14661	0.345	0.18873	N	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.64313	-0.6437	10	0.17832	T	0.49	.	1.4411	0.02354	0.3128:0.2744:0.0:0.4128	.	5465	Q96RW7	HMCN1_HUMAN	L	5465;5348;140	ENSP00000271588:H5465L;ENSP00000356462:H5348L;ENSP00000406205:H140L	ENSP00000271588:H5465L	H	+	2	0	HMCN1	184418022	0.988000	0.35896	1.000000	0.80357	0.984000	0.73092	2.613000	0.46351	0.882000	0.36016	-0.389000	0.06534	CAC		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186151399	A	T	186151399	3	4	420	1	0	0	0	0	1	0	0	0	7222	159	6	5	16812	5	HMCN1	1	186151399	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	11173563	186151399	63099222	7	22863											
TAF1A	9015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222750908	222750908	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:222750908C>G	ENST00000352967.4	-	5	671	c.483G>C	c.(481-483)gaG>gaC	p.E161D	TAF1A_ENST00000350027.4_Missense_Mutation_p.E161D|TAF1A_ENST00000366890.1_Missense_Mutation_p.E47D|TAF1A_ENST00000391882.1_Missense_Mutation_p.E47D|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Missense_Mutation_p.E161D	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	161					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.E161D(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		GTCTCCATGTCTCTGCCTCAC	0.383																																																1	Substitution - Missense(1)	kidney(1)											152	147	149					1																	222750908		2203	4300	6503	SO:0001583	missense	9015			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.483G>C	1.37:g.222750908C>G	ENSP00000327072:p.Glu161Asp		B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875114	0.72180	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T	0.52295	0.7;0.7;0.69;0.67	6.08	2.8	0.32819	.	0.092366	0.85682	D	0.000000	T	0.61640	0.2363	M	0.69248	2.105	0.40200	D	0.977504	D;D	0.89917	1.0;0.993	D;P	0.83275	0.996;0.879	T	0.62558	-0.6829	10	0.59425	D	0.04	-1.6033	8.0917	0.30805	0.0:0.6752:0.0:0.3248	.	161;161	B4DS21;Q15573	.;TAF1A_HUMAN	D	47;161;161;47;123;123;161	ENSP00000339976:E161D;ENSP00000327072:E161D;ENSP00000375755:E123D;ENSP00000437725:E161D	ENSP00000339976:E161D	E	-	3	2	TAF1A	220817531	0.998000	0.40836	1.000000	0.80357	0.804000	0.45430	0.324000	0.19610	0.908000	0.36671	-0.140000	0.14226	GAG		0.383	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		G	222750908	C	G	222750908	3	3	420	1	0	0	0	0	1	0	0	0	15524	912	32	4	897	4	TAF1A	1	222750908	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	36599509	222750908	26499713	8	22864											
OBSCN	84033	hgsc.bcm.edu	37	1	228505318	228505318	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:228505318G>T	ENST00000422127.1	+	52	13759	c.13715G>T	c.(13714-13716)tGc>tTc	p.C4572F	OBSCN_ENST00000366709.4_Missense_Mutation_p.C1691F|OBSCN_ENST00000570156.2_Missense_Mutation_p.C5529F|OBSCN_ENST00000284548.11_Missense_Mutation_p.C4572F|OBSCN_ENST00000366707.4_Missense_Mutation_p.C2206F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4572	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCGGCTGTGCCACGAGCTG	0.682																																																0													24	30	28					1																	228505318		2098	4210	6308	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13715G>T	1.37:g.228505318G>T	ENSP00000409493:p.Cys4572Phe		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.345606	0.82022	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.51	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.066826	0.64402	D	0.000015	T	0.72011	0.3408	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.67929	-0.5543	10	0.09843	T	0.71	.	17.4347	0.87548	0.0:0.0:1.0:0.0	.	4572;4572	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	F	4572;4572;2206;1691	ENSP00000284548:C4572F;ENSP00000409493:C4572F;ENSP00000355668:C2206F;ENSP00000355670:C1691F	ENSP00000284548:C4572F	C	+	2	0	OBSCN	226571941	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.314000	0.78988	2.368000	0.80403	0.479000	0.44913	TGC		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228505318	G	T	228505318	3	4	420	1	0	0	0	0	1	0	0	0	10814	1319	46	4	13917	4	OBSCN	1	228505318	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	5754410	228505318	20745303	9	22865											
OBSCN	84033	broad.mit.edu;hgsc.bcm.edu	37	1	228559759	228559759	+	Silent	SNP	T	T	C	rs369928421		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:228559759T>C	ENST00000422127.1	+	94	21324	c.21280T>C	c.(21280-21282)Ttg>Ctg	p.L7094L	OBSCN_ENST00000570156.2_Silent_p.L8051L|OBSCN_ENST00000366707.4_Silent_p.L4728L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7094	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L7676L(1)|p.L7806L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGCCCCCCATTGGACTCTAA	0.632													T|||	1	0.000199681	0.0008	0.0	5008	,	,		14890	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)						T		0,3632		0,0,1816	21	23	22		21280	-0.7	0	1		22	2,8158		0,2,4078	no	coding-synonymous	OBSCN	NM_001098623.1		0,2,5894	CC,CT,TT		0.0245,0.0,0.017		7094/7969	228559759	2,11790	1816	4080	5896	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21280T>C	1.37:g.228559759T>C			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.332683	0.24167	0.0	2.45E-4	ENSG00000154358	ENST00000441106	.	.	.	4.63	-0.701	0.11269	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28332	-1.0047	4	.	.	.	.	4.8224	0.13398	0.0:0.4943:0.1487:0.357	.	.	.	.	T	1710	.	.	I	+	2	0	OBSCN	226626382	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.934000	0.01552	-0.036000	0.13669	-0.253000	0.11424	ATT		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228559759	T	C	228559759	2	2	420	1	0	0	0	0	0	0	0	1	10814	1490	52	3		3	OBSCN	1	228559759	Silent	SNP	T	TCGA-BP-5168-01A-01D-1421-08	54441	228559759	20690862	10	22866											
RRM2	6241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	10269379	10269379	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:10269379C>T	ENST00000304567.5	+	10	1105	c.1036C>T	c.(1036-1038)Cca>Tca	p.P346S	RRM2_ENST00000360566.2_Missense_Mutation_p.P406S	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	346					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.P406S(1)|p.P346S(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	AGTAGAGAACCCATTTGACTT	0.383																																																2	Substitution - Missense(2)	kidney(2)											70	71	70					2																	10269379		2203	4300	6503	SO:0001583	missense	6241				CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"ribonucleotide reductase M2 polypeptide"				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.1036C>T	2.37:g.10269379C>T	ENSP00000302955:p.Pro346Ser		B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212239	0.79240	.	.	ENSG00000171848	ENST00000360566;ENST00000304567	D;D	0.99735	-6.58;-6.58	5.67	4.8	0.61643	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.96722	0.9533	10	0.87932	D	0	-22.5664	14.3723	0.66849	0.0:0.9293:0.0:0.0707	.	346	P31350	RIR2_HUMAN	S	406;346	ENSP00000353770:P406S;ENSP00000302955:P346S	ENSP00000302955:P346S	P	+	1	0	RRM2	10186830	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.631000	0.83237	1.401000	0.46761	0.557000	0.71058	CCA		0.383	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			T	10269379	C	T	10269379	3	4	420	1	0	0	0	0	1	0	0	0	13688	623	22	2	1254	2	RRM2	2	10269379	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08		10269379	232929994	11	22867											
ITSN2	50618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	24535240	24535240	+	Silent	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:24535240A>G	ENST00000355123.4	-	5	636	c.193T>C	c.(193-195)Tta>Cta	p.L65L	ITSN2_ENST00000406921.3_Silent_p.L65L|ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Silent_p.L65L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	65	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.L65L(1)|p.L64L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCTGATAAAGCCCTAAAA	0.423																																																2	Substitution - coding silent(2)	kidney(2)											174	145	155					2																	24535240		2203	4300	6503	SO:0001819	synonymous_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.193T>C	2.37:g.24535240A>G			O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	CCDS1710.2																																																																																				0.423	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		G	24535240	A	G	24535240	2	3	420	1	0	0	0	0	0	0	0	1	7929	11	1	3		3	ITSN2	2	24535240	Silent	SNP	A	TCGA-BP-5168-01A-01D-1421-08	14265861	24535240	218664133	12	22868											
KHK	3795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27320383	27320383	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:27320383T>C	ENST00000260599.6	+	5	943	c.430T>C	c.(430-432)Tcg>Ccg	p.S144P	KHK_ENST00000260598.5_Missense_Mutation_p.S144P|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	144					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)	p.S144P(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGAACGCATCGGAGCAGGT	0.622																																																2	Substitution - Missense(2)	kidney(2)											59	53	55					2																	27320383		2203	4300	6503	SO:0001583	missense	3795				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.430T>C	2.37:g.27320383T>C	ENSP00000260599:p.Ser144Pro		Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	T	8.897	0.955415	0.18507	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.78707	-1.2;-1.2;-0.06	5.93	1.9	0.25705	Carbohydrate/purine kinase (1);	0.395065	0.27068	N	0.021082	T	0.67627	0.2913	L	0.40543	1.245	0.09310	N	0.999993	B;B;P;B	0.38280	0.005;0.186;0.625;0.186	B;B;B;B	0.36885	0.009;0.235;0.137;0.235	T	0.58109	-0.7694	10	0.39692	T	0.17	-17.2928	12.5392	0.56158	0.0:0.0:0.5705:0.4295	.	144;144;144;144	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	P	144;144;189	ENSP00000260599:S144P;ENSP00000260598:S144P;ENSP00000404741:S189P	ENSP00000260598:S144P	S	+	1	0	KHK	27173887	0.633000	0.27181	0.004000	0.12327	0.046000	0.14306	2.695000	0.47043	0.447000	0.26695	-0.313000	0.08912	TCG		0.622	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			C	27320383	T	C	27320383	3	2	420	1	0	0	0	0	1	0	0	0	8151	1435	50	3	587	3	KHK	2	27320383	Missense_Mutation	SNP	T	TCGA-BP-5168-01A-01D-1421-08	2785143	27320383	215878990	13	22869											
ABCG5	64240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44065039	44065039	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:44065039G>C	ENST00000260645.1	-	2	338	c.199C>G	c.(199-201)Cag>Gag	p.Q67E	ABCG8_ENST00000272286.2_5'Flank|ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	67	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.Q67E(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TTGAGGATCTGCCTGGTCCAC	0.552																																																1	Substitution - Missense(1)	kidney(1)											112	100	104					2																	44065039		2203	4300	6503	SO:0001583	missense	64240			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.199C>G	2.37:g.44065039G>C	ENSP00000260645:p.Gln67Glu		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	G	8.494	0.862616	0.17178	.	.	ENSG00000138075	ENST00000260645	T	0.38722	1.12	4.63	2.71	0.32032	ABC transporter-like (1);	0.094343	0.43260	D	0.000588	T	0.17492	0.0420	N	0.13235	0.315	0.80722	D	1	P	0.48294	0.908	B	0.35607	0.206	T	0.21518	-1.0243	10	0.02654	T	1	.	11.1958	0.48711	0.0:0.1371:0.7207:0.1422	.	67	Q9H222	ABCG5_HUMAN	E	67	ENSP00000260645:Q67E	ENSP00000260645:Q67E	Q	-	1	0	ABCG5	43918543	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	5.605000	0.67634	1.143000	0.42306	0.650000	0.86243	CAG		0.552	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		C	44065039	G	C	44065039	3	2	420	1	0	0	0	0	1	0	0	0	71	1328	46	4	1804	4	ABCG5	2	44065039	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	16744656	44065039	199134334	14	22870											
CNRIP1	25927	broad.mit.edu	37	2	68546472	68546472	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:68546472C>A	ENST00000263655.3	-	1	666	c.61G>T	c.(61-63)Ggc>Tgc	p.G21C	CNRIP1_ENST00000409559.3_Missense_Mutation_p.G21C|CNRIP1_ENST00000409862.1_Missense_Mutation_p.G21C|CNRIP1_ENST00000481714.1_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	21								p.G21C(2)		kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						AAGACCGGGCCGTCATTAGGC	0.662																																																2	Substitution - Missense(2)	kidney(2)											42	33	36					2																	68546472		2181	4279	6460	SO:0001583	missense	25927			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 32"	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.61G>T	2.37:g.68546472C>A	ENSP00000263655:p.Gly21Cys		B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	ENST00000263655.3	37	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104686	0.77096	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	4.83	3.02	0.34903	.	0.213804	0.43579	D	0.000556	T	0.66587	0.2804	L	0.54323	1.7	0.52501	D	0.999957	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.70487	0.969;0.958;0.951	T	0.65734	-0.6096	9	0.72032	D	0.01	-4.7061	8.0598	0.30627	0.1572:0.7621:0.0:0.0807	.	21;21;21	B8ZZB8;Q96F85;Q96F85-2	.;CNRP1_HUMAN;.	C	21	.	ENSP00000263655:G21C	G	-	1	0	CNRIP1	68399976	1.000000	0.71417	0.676000	0.29932	0.961000	0.63080	4.289000	0.59013	0.623000	0.30267	0.491000	0.48974	GGC		0.662	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		A	68546472	C	A	68546472	3	1	420	1	0	0	0	0	1	0	0	0	3635	652	23	4	506	4	CNRIP1	2	68546472	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	24481433	68546472	174652901	15	22871											
NCAPH	23397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	97024901	97024901	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:97024901G>C	ENST00000240423.4	+	10	1370	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	NCAPH_ENST00000427946.1_Missense_Mutation_p.D307H|NCAPH_ENST00000455200.1_Missense_Mutation_p.D432H	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	443					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.D443H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGCTGGCCCGGATCACTGGCG	0.488																																																1	Substitution - Missense(1)	kidney(1)											117	113	114					2																	97024901		2203	4300	6503	SO:0001583	missense	23397			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1327G>C	2.37:g.97024901G>C	ENSP00000240423:p.Asp443His		B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705050	0.88924	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.85	5.85	0.93711	.	0.145914	0.64402	D	0.000009	T	0.67021	0.2849	M	0.72118	2.19	0.50313	D	0.999861	D;D;D;D	0.64830	0.989;0.989;0.96;0.994	D;P;D;P	0.62955	0.909;0.908;0.909;0.908	T	0.67628	-0.5622	10	0.59425	D	0.04	-12.24	17.6572	0.88181	0.0:0.0:1.0:0.0	.	419;432;432;443	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	H	443;307;432;432	ENSP00000240423:D443H;ENSP00000400774:D307H;ENSP00000405237:D432H;ENSP00000407308:D432H	ENSP00000240423:D443H	D	+	1	0	NCAPH	96388628	1.000000	0.71417	0.977000	0.42913	0.929000	0.56500	9.028000	0.93712	2.773000	0.95371	0.655000	0.94253	GAT		0.488	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		C	97024901	G	C	97024901	3	2	420	1	0	0	0	0	1	0	0	0	10211	1174	41	4	1365	4	NCAPH	2	97024901	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	28478429	97024901	146174472	16	22872											
FASTKD2	22868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	207639092	207639092	+	Silent	SNP	C	C	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:207639092C>A	ENST00000236980.6	+	7	1746	c.1398C>A	c.(1396-1398)ctC>ctA	p.L466L	FASTKD2_ENST00000402774.3_Silent_p.L466L|FASTKD2_ENST00000403094.3_Silent_p.L466L	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	466					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.L466L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		ACTCTTCTCTCAATCATGTCT	0.303																																																1	Substitution - coding silent(1)	kidney(1)											108	112	110					2																	207639092		2202	4298	6500	SO:0001819	synonymous_variant	22868			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1398C>A	2.37:g.207639092C>A			Q9NVX6|Q9Y2H7	Silent	SNP	ENST00000236980.6	37	CCDS2371.1																																																																																				0.303	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		A	207639092	C	A	207639092	2	1	420	1	0	0	0	0	0	0	0	1	5688	813	29	4		4	FASTKD2	2	207639092	Silent	SNP	C	TCGA-BP-5168-01A-01D-1421-08	110614191	207639092	35560281	17	22873											
SLC16A14	151473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	230910577	230910577	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:230910577delA	ENST00000295190.4	-	4	1723	c.1265delT	c.(1264-1266)ttcfs	p.F422fs		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	422						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CATTAGGGAGAAATAACCACT	0.498																																																0													82	75	77					2																	230910577		2203	4300	6503	SO:0001589	frameshift_variant	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1265delT	2.37:g.230910577delA	ENSP00000295190:p.Phe422fs		A8KA08|Q53R92|Q96NI7	Frame_Shift_Del	DEL	ENST00000295190.4	37	CCDS2473.1																																																																																				0.498	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		-	230910577	A	-	230910577	7	5	420	1	0	1	0	1	0	0	0	0	14413	246	9	0	275	0	SLC16A14	2	230910577	Frame_Shift_Del	DEL	A	TCGA-BP-5168-01A-01D-1421-08	23271485	230910577	12288796	18	22874											
ASB1	51665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	239353054	239353054	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:239353054C>T	ENST00000264607.4	+	4	813	c.566C>T	c.(565-567)aCc>aTc	p.T189I	ASB1_ENST00000409297.1_Missense_Mutation_p.T88I	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	189					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)		p.T189I(1)		breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGGCGGCTCACCTCCTTGGTG	0.602																																																1	Substitution - Missense(1)	kidney(1)											62	50	54					2																	239353054		2203	4300	6503	SO:0001583	missense	51665			AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"Ankyrin repeat domain containing"	16011	protein-coding gene	gene with protein product		605758	"ankyrin repeat and SOCS box-containing 1"				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.566C>T	2.37:g.239353054C>T	ENSP00000264607:p.Thr189Ile		A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331645	0.81690	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	T;T	0.58060	0.36;0.57	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.146153	0.64402	D	0.000011	T	0.75273	0.3827	M	0.79926	2.475	0.58432	D	0.999999	D	0.89917	1.0	D	0.70487	0.969	T	0.74627	-0.3602	9	.	.	.	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	189	Q9Y576	ASB1_HUMAN	I	189;88	ENSP00000264607:T189I;ENSP00000387025:T88I	.	T	+	2	0	ASB1	239017793	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.441000	0.59981	2.793000	0.96121	0.655000	0.94253	ACC		0.602	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		T	239353054	C	T	239353054	3	4	420	1	0	0	0	0	1	0	0	0	1013	507	18	2	580	2	ASB1	2	239353054	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	8442477	239353054	3846319	19	22875											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52623262	52623262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:52623262delT	ENST00000296302.7	-	18	2790	c.2789delA	c.(2788-2790)aagfs	p.K930fs	PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K930fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.K898fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K945fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K930fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K945fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K930fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K930fs			Q86U86	PB1_HUMAN	polybromo 1	930					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATCTTCACTCTTTTCAGCTTC	0.398			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													93	94	94					3																	52623262		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2789delA	3.37:g.52623262delT	ENSP00000296302:p.Lys930fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52623262	T	-	52623262	7	5	420	1	0	1	0	1	0	0	0	0	11493	1609	56	0	2163	0	PBRM1	3	52623262	Frame_Shift_Del	DEL	T	TCGA-BP-5168-01A-01D-1421-08		52623262	145399168	20	22876	171	2									
PBRM1	55193	hgsc.bcm.edu	37	3	52623267	52623267	+	Silent	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:52623267A>G	ENST00000296302.7	-	18	2785	c.2784T>C	c.(2782-2784)gcT>gcC	p.A928A	PBRM1_ENST00000410007.1_Silent_p.A928A|PBRM1_ENST00000356770.4_Silent_p.A896A|PBRM1_ENST00000409114.3_Silent_p.A943A|PBRM1_ENST00000394830.3_Silent_p.A928A|PBRM1_ENST00000409767.1_Silent_p.A943A|PBRM1_ENST00000409057.1_Silent_p.A928A|PBRM1_ENST00000337303.4_Silent_p.A928A			Q86U86	PB1_HUMAN	polybromo 1	928					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CACTCTTTTCAGCTTCTTAGG	0.398			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													83	85	84					3																	52623267		2203	4300	6503	SO:0001819	synonymous_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2784T>C	3.37:g.52623267A>G			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																					0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		G	52623267	A	G	52623267	2	3	420	1	0	0	0	0	0	0	0	1	11493	175	7	3		3	PBRM1	3	52623267	Silent	SNP	A	TCGA-BP-5168-01A-01D-1421-08	5	52623267	145399163	21	22877	171	2									
CADM2	253559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	85851226	85851226	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:85851226A>G	ENST00000407528.2	+	2	153	c.91A>G	c.(91-93)Aat>Gat	p.N31D	CADM2_ENST00000405615.2_Missense_Mutation_p.N33D|CADM2_ENST00000383699.3_Missense_Mutation_p.N40D|CADM2-AS2_ENST00000467225.1_RNA	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	31	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.N33D(1)|p.N40D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACTAACACAGAATGTAACCGT	0.403																																																2	Substitution - Missense(2)	kidney(2)											100	86	91					3																	85851226		2203	4300	6503	SO:0001583	missense	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.91A>G	3.37:g.85851226A>G	ENSP00000384575:p.Asn31Asp		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753540	0.31046	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.26223	1.75;1.75;1.75	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.099543	0.64402	D	0.000003	T	0.27559	0.0677	N	0.12887	0.27	0.58432	D	0.99999	B;D;D	0.60575	0.006;0.985;0.988	B;D;D	0.75020	0.023;0.966;0.985	T	0.03641	-1.1017	10	0.02654	T	1	.	15.1442	0.72637	1.0:0.0:0.0:0.0	.	33;40;31	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	D	40;31;33	ENSP00000373200:N40D;ENSP00000384575:N31D;ENSP00000384193:N33D	ENSP00000373200:N40D	N	+	1	0	CADM2	85933916	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.910000	0.92685	2.037000	0.60232	0.445000	0.29226	AAT		0.403	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		G	85851226	A	G	85851226	3	3	420	1	0	0	0	0	1	0	0	0	2569	246	9	3	168	3	CADM2	3	85851226	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	33227959	85851226	112171204	22	22878											
PVRL3	25945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	110837735	110837735	+	Silent	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:110837735T>A	ENST00000485303.1	+	3	1010	c.735T>A	c.(733-735)acT>acA	p.T245T	PVRL3_ENST00000493615.1_Silent_p.T222T|PVRL3_ENST00000319792.3_Silent_p.T245T	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	245	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.T245T(1)|p.T222T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GGCGAATTACTTGTGTTGTAA	0.353																																																2	Substitution - coding silent(2)	kidney(2)											76	74	75					3																	110837735		2203	4300	6503	SO:0001819	synonymous_variant	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.735T>A	3.37:g.110837735T>A			E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Silent	SNP	ENST00000485303.1	37	CCDS2957.1																																																																																				0.353	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		A	110837735	T	A	110837735	2	1	420	1	0	0	0	0	0	0	0	1	12847	1596	56	5		5	PVRL3	3	110837735	Silent	SNP	T	TCGA-BP-5168-01A-01D-1421-08	24986509	110837735	87184695	23	22879											
GRAMD1C	54762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113627861	113627861	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:113627861delA	ENST00000358160.4	+	9	1338	c.846delA	c.(844-846)ccafs	p.P282fs	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Frame_Shift_Del_p.P77fs|GRAMD1C_ENST00000472026.1_Frame_Shift_Del_p.P115fs	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	282						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTCTCTTACCAACTTTGGAAA	0.363																																																0													79	84	82					3																	113627861		2203	4300	6503	SO:0001589	frameshift_variant	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.846delA	3.37:g.113627861delA	ENSP00000350881:p.Pro282fs		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Frame_Shift_Del	DEL	ENST00000358160.4	37	CCDS33826.1																																																																																				0.363	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		-	113627861	A	-	113627861	7	5	420	1	0	1	0	1	0	0	0	0	6751	117	5	0	880	0	GRAMD1C	3	113627861	Frame_Shift_Del	DEL	A	TCGA-BP-5168-01A-01D-1421-08	2790126	113627861	84394569	24	22880											
DRD3	1814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113858392	113858392	+	Silent	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:113858392T>A	ENST00000460779.1	-	6	967	c.678A>T	c.(676-678)cgA>cgT	p.R226R	DRD3_ENST00000383673.2_Silent_p.R226R|DRD3_ENST00000467632.1_Silent_p.R226R|DRD3_ENST00000295881.7_Silent_p.R226R	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	226					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.R226R(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GACTGTTCTGTCGAGTGAGGA	0.527																																																1	Substitution - coding silent(1)	kidney(1)											192	189	190					3																	113858392		2203	4300	6503	SO:0001819	synonymous_variant	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.678A>T	3.37:g.113858392T>A			A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	CCDS2978.1																																																																																				0.527	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		A	113858392	T	A	113858392	2	1	420	1	0	0	0	0	0	0	0	1	4760	1654	58	5		5	DRD3	3	113858392	Silent	SNP	T	TCGA-BP-5168-01A-01D-1421-08	230531	113858392	84164038	25	22881											
LRRIQ4	344657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	169555371	169555371	+	Silent	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:169555371A>G	ENST00000340806.6	+	5	1635	c.1635A>G	c.(1633-1635)aaA>aaG	p.K545K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	545								p.K545K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAGATAAGAAAGGAAAGAAGG	0.373																																																1	Substitution - coding silent(1)	kidney(1)											51	47	48					3																	169555371		1816	4083	5899	SO:0001819	synonymous_variant	344657				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1635A>G	3.37:g.169555371A>G				Silent	SNP	ENST00000340806.6	37	CCDS46951.1																																																																																				0.373	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		G	169555371	A	G	169555371	2	3	420	1	0	0	0	0	0	0	0	1	9033	69	3	3		3	LRRIQ4	3	169555371	Silent	SNP	A	TCGA-BP-5168-01A-01D-1421-08	55696979	169555371	28467059	26	22882											
WDR19	57728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	39206807	39206807	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:39206807T>A	ENST00000399820.3	+	8	791	c.637T>A	c.(637-639)Ttt>Att	p.F213I	WDR19_ENST00000506503.1_Missense_Mutation_p.F213I|WDR19_ENST00000288634.7_Missense_Mutation_p.F53I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	213					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.F213I(1)		large_intestine(1)	1						AACTTTGTTTTTTTTAAATCT	0.358																																																1	Substitution - Missense(1)	kidney(1)											89	77	81					4																	39206807		1822	4074	5896	SO:0001583	missense	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.637T>A	4.37:g.39206807T>A	ENSP00000382717:p.Phe213Ile		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595574	0.28445	.	.	ENSG00000157796	ENST00000399820;ENST00000288634;ENST00000506503;ENST00000399836	T;T;T	0.61980	3.66;0.06;3.66	5.65	3.95	0.45737	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.057116	0.64402	D	0.000001	T	0.39655	0.1086	N	0.05078	-0.115	0.27423	N	0.954243	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.32877	-0.9890	10	0.52906	T	0.07	-7.4625	10.6487	0.45636	0.0:0.7933:0.0:0.2067	.	213;213	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	I	213;53;213;212	ENSP00000382717:F213I;ENSP00000288634:F53I;ENSP00000423491:F213I	ENSP00000288634:F53I	F	+	1	0	WDR19	38883202	1.000000	0.71417	0.985000	0.45067	0.025000	0.11179	2.776000	0.47709	0.744000	0.32741	-1.059000	0.02297	TTT		0.358	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			A	39206807	T	A	39206807	3	1	420	1	0	0	0	0	1	0	0	0	17284	1841	64	5	667	5	WDR19	4	39206807	Missense_Mutation	SNP	T	TCGA-BP-5168-01A-01D-1421-08		39206807	151947469	27	22883											
TMPRSS11D	9407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	68692994	68692994	+	Missense_Mutation	SNP	C	C	T	rs370881465		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:68692994C>T	ENST00000283916.6	-	8	1035	c.937G>A	c.(937-939)Gct>Act	p.A313T	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A196T|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	313	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A313T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TATTCTTGAGCGCCCCATCCT	0.378																																																1	Substitution - Missense(1)	kidney(1)						C	THR/ALA	1,4405		0,1,2202	107	106	106		937	3	0	4		106	2,8596	2.2+/-6.3	0,2,4297	no	missense	TMPRSS11D	NM_004262.2	58	0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231	benign	313/419	68692994	3,13001	2203	4299	6502	SO:0001583	missense	9407			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.937G>A	4.37:g.68692994C>T	ENSP00000283916:p.Ala313Thr		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	9.351	1.065640	0.20067	2.27E-4	2.33E-4	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88124	-2.34;-2.34	5.38	2.99	0.34606	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.119039	0.38326	N	0.001729	T	0.66607	0.2806	N	0.12422	0.21	0.09310	N	1	P	0.48162	0.906	B	0.30716	0.119	T	0.60627	-0.7226	10	0.27785	T	0.31	.	7.1451	0.25579	0.6816:0.1897:0.0:0.1288	.	313	O60235	TM11D_HUMAN	T	313;196	ENSP00000283916:A313T;ENSP00000442045:A196T	ENSP00000283916:A313T	A	-	1	0	TMPRSS11D	68375589	0.952000	0.32445	0.012000	0.15200	0.002000	0.02628	1.927000	0.40094	0.446000	0.26666	-0.181000	0.13052	GCT		0.378	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		T	68692994	C	T	68692994	3	4	420	1	0	0	0	0	1	0	0	0	16246	768	27	1	331	1	TMPRSS11D	4	68692994	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	29486187	68692994	122461282	28	22884											
PTPN13	5783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87679432	87679432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:87679432G>A	ENST00000411767.2	+	21	3306	c.3243G>A	c.(3241-3243)tgG>tgA	p.W1081*	PTPN13_ENST00000427191.2_Nonsense_Mutation_p.W1062*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.W1081*|PTPN13_ENST00000316707.6_Nonsense_Mutation_p.W890*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.W1081*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1081					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.W1081*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAAAAGATGGAGCATAGTAT	0.348																																																1	Substitution - Nonsense(1)	kidney(1)											88	82	84					4																	87679432		1857	4092	5949	SO:0001587	stop_gained	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3243G>A	4.37:g.87679432G>A	ENSP00000407249:p.Trp1081*		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	45	12.068237	0.99632	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.57	5.57	0.84162	.	0.313092	0.23474	N	0.047793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	12.8376	0.57782	0.0746:0.0:0.9254:0.0	.	.	.	.	X	1062;1081;890;1081;1081;1030	.	ENSP00000322675:W890X	W	+	3	0	PTPN13	87898456	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	1.704000	0.37857	2.604000	0.88044	0.650000	0.86243	TGG		0.348	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			A	87679432	G	A	87679432	4	1	420	1	0	0	0	0	0	1	0	0	12788	1183	41	2	3321	2	PTPN13	4	87679432	Nonsense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	18986438	87679432	103474844	29	22885											
NPNT	255743	broad.mit.edu;ucsc.edu	37	4	106861265	106861265	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:106861265G>T	ENST00000379987.2	+	6	755	c.539G>T	c.(538-540)tGc>tTc	p.C180F	NPNT_ENST00000453617.2_Missense_Mutation_p.C197F|NPNT_ENST00000305572.8_Missense_Mutation_p.C180F|NPNT_ENST00000427316.2_Missense_Mutation_p.C210F|NPNT_ENST00000514622.1_Missense_Mutation_p.C180F|NPNT_ENST00000506666.1_Missense_Mutation_p.C210F	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	180	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.C180F(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGAGCCTCCTGCCCTAGATTT	0.398																																																1	Substitution - Missense(1)	kidney(1)											167	143	151					4																	106861265		2203	4300	6503	SO:0001583	missense	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.539G>T	4.37:g.106861265G>T	ENSP00000369323:p.Cys180Phe		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177879	0.57692	.	.	ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	D;D;D;D;D;D;D	0.99445	-5.14;-5.14;-5.91;-5.14;-5.14;-5.91;-5.91	5.44	5.44	0.79542	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	M	0.93808	3.46	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	0.999;1.0;1.0;1.0;1.0;0.999;0.999	D	0.97698	1.0183	10	0.87932	D	0	.	19.2495	0.93917	0.0:0.0:1.0:0.0	.	180;210;210;197;227;180;180	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9	.;.;.;.;.;.;NPNT_HUMAN	F	180;197;210;180;180;210;227	ENSP00000369323:C180F;ENSP00000402884:C197F;ENSP00000389252:C210F;ENSP00000422044:C180F;ENSP00000302557:C180F;ENSP00000422474:C210F;ENSP00000426146:C227F	ENSP00000302557:C180F	C	+	2	0	NPNT	107080714	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	9.357000	0.97099	2.553000	0.86117	0.655000	0.94253	TGC		0.398	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		T	106861265	G	T	106861265	3	4	420	1	0	0	0	0	1	0	0	0	10592	1319	46	4	710	4	NPNT	4	106861265	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	19181833	106861265	84293011	30	22886											
OTUD4	54726	hgsc.bcm.edu	37	4	146076739	146076739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:146076739delA	ENST00000447906.2	-	9	977	c.790delT	c.(790-792)tggfs	p.W264fs	OTUD4_ENST00000454497.2_Frame_Shift_Del_p.W199fs|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	264					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GACTTCAGCCAAATTTCATAT	0.348																																																0													99	99	99					4																	146076739		2203	4300	6503	SO:0001589	frameshift_variant	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.790delT	4.37:g.146076739delA	ENSP00000395487:p.Trp264fs		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Frame_Shift_Del	DEL	ENST00000447906.2	37																																																																																					0.348	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		-	146076739	A	-	146076739	7	5	420	1	0	1	0	1	0	0	0	0	11316	130	5	0	2606	0	OTUD4	4	146076739	Frame_Shift_Del	DEL	A	TCGA-BP-5168-01A-01D-1421-08	39215474	146076739	45077537	31	22887											
MFAP3L	9848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	170913100	170913100	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:170913100G>T	ENST00000361618.3	-	3	966	c.659C>A	c.(658-660)gCc>gAc	p.A220D	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.A117D	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A220D(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GGTGACTTTGGCAAGCTCTAG	0.527																																																1	Substitution - Missense(1)	kidney(1)											95	103	100					4																	170913100		2203	4300	6503	SO:0001583	missense	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.659C>A	4.37:g.170913100G>T	ENSP00000354583:p.Ala220Asp		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441727	0.83993	.	.	ENSG00000198948	ENST00000393704;ENST00000361618;ENST00000512698	D;D;D	0.99232	-5.6;-2.78;-5.24	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99850	1.1070	10	0.87932	D	0	-23.5052	19.1622	0.93537	0.0:0.0:1.0:0.0	.	220	O75121	MFA3L_HUMAN	D	117;220;117	ENSP00000377307:A117D;ENSP00000354583:A220D;ENSP00000422791:A117D	ENSP00000354583:A220D	A	-	2	0	MFAP3L	171149675	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.869000	0.99810	2.522000	0.85027	0.555000	0.69702	GCC		0.527	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		T	170913100	G	T	170913100	3	4	420	1	0	0	0	0	1	0	0	0	9518	1203	42	4	574	4	MFAP3L	4	170913100	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	24836361	170913100	20241176	32	22888											
FYB	2533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	39202847	39202847	+	Silent	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:39202847T>C	ENST00000351578.6	-	2	406	c.216A>G	c.(214-216)gaA>gaG	p.E72E	FYB_ENST00000512982.1_Silent_p.E72E|FYB_ENST00000515010.1_Silent_p.E72E|FYB_ENST00000505428.1_Silent_p.E72E|FYB_ENST00000540520.1_Silent_p.E82E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	72					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.E72E(3)|p.E82E(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTCAGGCTTTTCCTCAGAAG	0.557																																																4	Substitution - coding silent(4)	kidney(4)											48	45	46					5																	39202847		1869	4115	5984	SO:0001819	synonymous_variant	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.216A>G	5.37:g.39202847T>C			A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	CCDS47200.1																																																																																				0.557	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		C	39202847	T	C	39202847	2	2	420	1	0	0	0	0	0	0	0	1	6126	1838	64	3		3	FYB	5	39202847	Silent	SNP	T	TCGA-BP-5168-01A-01D-1421-08		39202847	141712413	33	22889											
SKIV2L2	23517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54701366	54701366	+	Silent	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:54701366T>A	ENST00000230640.5	+	22	2849	c.2595T>A	c.(2593-2595)acT>acA	p.T865T	SKIV2L2_ENST00000545714.1_Silent_p.T764T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	865					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.T865T(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GATTTGCTACTTCTTCTGATG	0.348																																					Melanoma(2;92 134 23744 29976 33782)											1	Substitution - coding silent(1)	kidney(1)											144	146	145					5																	54701366		2203	4300	6503	SO:0001819	synonymous_variant	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2595T>A	5.37:g.54701366T>A			Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																				0.348	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			A	54701366	T	A	54701366	2	1	420	1	0	0	0	0	0	0	0	1	14366	1596	56	5		5	SKIV2L2	5	54701366	Silent	SNP	T	TCGA-BP-5168-01A-01D-1421-08	15498519	54701366	126213894	34	22890											
TTC37	9652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	94860289	94860289	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:94860289C>G	ENST00000358746.2	-	16	1630	c.1332G>C	c.(1330-1332)caG>caC	p.Q444H		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	444						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.Q444H(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CAAGAGCTCTCTGAAAACTAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											85	85	85					5																	94860289		2203	4300	6503	SO:0001583	missense	9652			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1332G>C	5.37:g.94860289C>G	ENSP00000351596:p.Gln444His		O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854700	0.51376	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.60672	0.17;0.17	5.78	1.9	0.25705	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.132175	0.52532	D	0.000063	T	0.66247	0.2770	L	0.57536	1.79	0.29963	N	0.819206	D;D	0.76494	0.999;0.998	D;D	0.70935	0.951;0.971	T	0.62709	-0.6797	10	0.59425	D	0.04	.	7.2502	0.26146	0.0:0.5719:0.2252:0.203	.	396;444	D6RCE2;Q6PGP7	.;TTC37_HUMAN	H	444;396	ENSP00000351596:Q444H;ENSP00000423742:Q396H	ENSP00000351596:Q444H	Q	-	3	2	TTC37	94886045	0.989000	0.36119	0.730000	0.30809	0.928000	0.56348	1.746000	0.38288	0.054000	0.16065	0.650000	0.86243	CAG		0.368	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		G	94860289	C	G	94860289	3	3	420	1	0	0	0	0	1	0	0	0	16710	912	32	4	3474	4	TTC37	5	94860289	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	40158923	94860289	86054971	35	22891											
PCDHB13	56123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140596070	140596070	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:140596070A>G	ENST00000341948.4	+	1	2562	c.2375A>G	c.(2374-2376)aAc>aGc	p.N792S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	792					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N792S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCCCAATAACTTTGGGTTC	0.413																																																1	Substitution - Missense(1)	kidney(1)											77	83	81					5																	140596070		2203	4300	6503	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2375A>G	5.37:g.140596070A>G	ENSP00000345491:p.Asn792Ser		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	0.018	-1.479416	0.01035	.	.	ENSG00000187372	ENST00000341948;ENST00000419217	T	0.43688	0.94	4.21	-3.71	0.04424	.	.	.	.	.	T	0.07143	0.0181	N	0.00135	-2.02	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29119	-1.0022	9	0.02654	T	1	.	5.7633	0.18213	0.2969:0.3681:0.335:0.0	.	792	Q9Y5F0	PCDBD_HUMAN	S	792;738	ENSP00000345491:N792S	ENSP00000345491:N792S	N	+	2	0	PCDHB13	140576254	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.367000	0.20382	-1.062000	0.03181	-0.736000	0.03550	AAC		0.413	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		G	140596070	A	G	140596070	3	3	420	1	0	0	0	0	1	0	0	0	11540	43	2	3	2377	3	PCDHB13	5	140596070	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	45735781	140596070	40319190	36	22892											
LARP1	23367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154191178	154191185	+	Frame_Shift_Del	DEL	GTCTTGAA	GTCTTGAA	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	GTCTTGAA	GTCTTGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:154191178_154191185delGTCTTGAA	ENST00000336314.4	+	18	2852_2859	c.2828_2835delGTCTTGAA	c.(2827-2835)cgtcttgaafs	p.RLE943fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1020					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATTCCGACGTCTTGAAGACTTCCGAG	0.447											OREG0016971	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2828_2835delGTCTTGAA	5.37:g.154191178_154191185delGTCTTGAA	ENSP00000336721:p.Arg943fs	1761	O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																				0.447	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		-	154191185	GTCTTGAA	-	154191178	7	5	420	1	0	1	0	1	0	0	0	0	8630	1145	40	0	2898	0	LARP1	5	154191178	Frame_Shift_Del	DEL	GTCTTGAA	TCGA-BP-5168-01A-01D-1421-08	13595108	154191178	26724082	37	22893											
MAML1	9794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179193308	179193308	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:179193308A>T	ENST00000292599.3	+	2	1560	c.1297A>T	c.(1297-1299)Acg>Tcg	p.T433S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.T470S(1)|p.T433S(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGCAGCAGACGGGGCCCTC	0.607																																																2	Substitution - Missense(2)	kidney(2)											75	88	84					5																	179193308		2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1297A>T	5.37:g.179193308A>T	ENSP00000292599:p.Thr433Ser			Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	A	6.826	0.521590	0.13005	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.21734	1.99	4.89	-3.24	0.05094	.	0.426911	0.23960	N	0.042874	T	0.03011	0.0089	N	0.00583	-1.355	0.24401	N	0.994706	B;B	0.15141	0.012;0.001	B;B	0.12837	0.008;0.001	T	0.38373	-0.9664	10	0.05351	T	0.99	-0.8574	2.9265	0.05786	0.1951:0.1025:0.4481:0.2543	.	470;433	Q59GH4;Q92585	.;MAML1_HUMAN	S	433;470	ENSP00000292599:T433S	ENSP00000292599:T433S	T	+	1	0	MAML1	179125914	0.227000	0.23707	0.978000	0.43139	0.692000	0.40212	0.064000	0.14437	-0.133000	0.11537	0.260000	0.18958	ACG		0.607	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		T	179193308	A	T	179193308	3	4	420	1	0	0	0	0	1	0	0	0	9207	275	10	5	1303	5	MAML1	5	179193308	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	25002130	179193308	1721952	38	22894											
BMP6	654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7727745	7727745	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr6:7727745G>T	ENST00000283147.6	+	1	716	c.557G>T	c.(556-558)aGc>aTc	p.S186I		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	186					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.S186I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					AACCGCAAGAGCCTTCTGGCC	0.716																																																1	Substitution - Missense(1)	kidney(1)											8	10	9					6																	7727745		2084	4090	6174	SO:0001583	missense	654			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.557G>T	6.37:g.7727745G>T	ENSP00000283147:p.Ser186Ile		Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261819	0.23051	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.73363	-0.74	3.63	2.75	0.32379	Transforming growth factor-beta, N-terminal (1);	0.287491	0.32357	N	0.006218	T	0.50565	0.1623	L	0.50333	1.59	0.35290	D	0.782117	B	0.14012	0.009	B	0.15484	0.013	T	0.48990	-0.8985	10	0.45353	T	0.12	.	9.685	0.40094	0.1081:0.0:0.8919:0.0	.	186	P22004	BMP6_HUMAN	I	108;186;149	ENSP00000283147:S186I	ENSP00000283147:S186I	S	+	2	0	BMP6	7672744	.	.	0.680000	0.29994	0.058000	0.15608	.	.	0.708000	0.31955	0.455000	0.32223	AGC		0.716	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		T	7727745	G	T	7727745	3	4	420	1	0	0	0	0	1	0	0	0	1464	971	34	4	559	4	BMP6	6	7727745	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08		7727745	163387322	39	22895											
PPP1R10	5514	broad.mit.edu;hgsc.bcm.edu	37	6	30569885	30569885	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr6:30569885G>A	ENST00000376511.2	-	19	3093	c.2541C>T	c.(2539-2541)ccC>ccT	p.P847P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	847	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)	p.P847P(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GGCCTTCATGGGGACGATGTC	0.677																																																1	Substitution - coding silent(1)	kidney(1)											85	87	86					6																	30569885		1508	2708	4216	SO:0001819	synonymous_variant	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2541C>T	6.37:g.30569885G>A			O00405	Silent	SNP	ENST00000376511.2	37	CCDS4681.1																																																																																				0.677	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		A	30569885	G	A	30569885	2	1	420	1	0	0	0	0	0	0	0	1	12357	1219	43	2		2	PPP1R10	6	30569885	Silent	SNP	G	TCGA-BP-5168-01A-01D-1421-08	22842140	30569885	140545182	40	22896											
C6orf58	352999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	127901450	127901450	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr6:127901450G>A	ENST00000329722.7	+	3	441	c.429G>A	c.(427-429)gcG>gcA	p.A143A		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	143						extracellular vesicular exosome (GO:0070062)		p.A143A(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTCTTGCTGCGGTTGATTCTG	0.368																																																1	Substitution - coding silent(1)	kidney(1)											163	153	157					6																	127901450		2203	4299	6502	SO:0001819	synonymous_variant	352999			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.429G>A	6.37:g.127901450G>A			B4E1I0|Q5VUP2	Silent	SNP	ENST00000329722.7	37	CCDS34533.1																																																																																				0.368	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		A	127901450	G	A	127901450	2	1	420	1	0	0	0	0	0	0	0	1	2369	1103	39	1		1	C6orf58	6	127901450	Silent	SNP	G	TCGA-BP-5168-01A-01D-1421-08	97331565	127901450	43213617	41	22897											
VNN2	8875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	133065439	133065439	+	Silent	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr6:133065439C>T	ENST00000326499.6	-	7	1687	c.1563G>A	c.(1561-1563)taG>taA	p.*521*	VNN2_ENST00000525270.1_Silent_p.*468*|VNN2_ENST00000525289.1_Silent_p.*300*	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	0					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.*521*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AAGAGACGCCCTATAACATTA	0.368																																																1	Substitution - coding silent(1)	kidney(1)											85	92	89					6																	133065439		2203	4300	6503	SO:0001819	synonymous_variant	8875			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1563G>A	6.37:g.133065439C>T			A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	CCDS5161.1																																																																																				0.368	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			T	133065439	C	T	133065439	2	4	420	1	0	0	0	0	0	0	0	1	17188	692	24	2		2	VNN2	6	133065439	Silent	SNP	C	TCGA-BP-5168-01A-01D-1421-08	5163989	133065439	38049628	42	22898											
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152757208	152757208	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr6:152757208G>A	ENST00000367255.5	-	33	4779	c.4178C>T	c.(4177-4179)gCa>gTa	p.A1393V	SYNE1_ENST00000448038.1_Missense_Mutation_p.A1400V|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1393V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1459V|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1383V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1393V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1400V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1393V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1393					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A1393V(2)|p.A1400V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCCTGGACTGCAATACTTTC	0.398										HNSCC(10;0.0054)																																						3	Substitution - Missense(3)	kidney(3)											106	98	101					6																	152757208		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4178C>T	6.37:g.152757208G>A	ENSP00000356224:p.Ala1393Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340196	0.60963	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88046	0.6;0.6;0.5;0.59;0.65;-2.23;-2.33;-2.33	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000026	D	0.87565	0.6209	L	0.55103	1.725	0.80722	D	1	D;B;B;P;B;B	0.71674	0.998;0.101;0.162;0.566;0.101;0.162	P;B;B;B;B;B	0.62649	0.905;0.028;0.058;0.138;0.028;0.102	T	0.82938	-0.0209	10	0.06757	T	0.87	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	1376;1393;1383;1393;1393;1400	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	V	1393;1400;1393;1400;1459;1393;1383;1393	ENSP00000356224:A1393V;ENSP00000396024:A1400V;ENSP00000265368:A1393V;ENSP00000390975:A1400V;ENSP00000341887:A1459V;ENSP00000356222:A1393V;ENSP00000356217:A1383V;ENSP00000414510:A1393V	ENSP00000265368:A1393V	A	-	2	0	SYNE1	152798901	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.536000	0.73842	2.805000	0.96524	0.460000	0.39030	GCA		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152757208	G	A	152757208	3	1	420	1	0	0	0	0	1	0	0	0	15450	1319	46	2	22744	2	SYNE1	6	152757208	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	19691769	152757208	18357859	43	22899											
RBAK	57786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	5104366	5104366	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:5104366A>G	ENST00000353796.3	+	6	1603	c.1279A>G	c.(1279-1281)Aag>Gag	p.K427E	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.K427E	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	427	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K427E(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CACGGGAGAGAAGCCCTATCA	0.403																																																1	Substitution - Missense(1)	kidney(1)											56	54	54					7																	5104366		2203	4300	6503	SO:0001583	missense	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1279A>G	7.37:g.5104366A>G	ENSP00000275423:p.Lys427Glu		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874811	0.72180	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.27104	1.69;1.69	3.76	3.76	0.43208	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000075	T	0.50905	0.1643	M	0.82630	2.6	0.32936	D	0.517770	D	0.55605	0.972	D	0.75484	0.986	T	0.65516	-0.6149	8	.	.	.	.	11.0559	0.47918	1.0:0.0:0.0:0.0	.	427	Q9NYW8	RBAK_HUMAN	E	427	ENSP00000275423:K427E;ENSP00000380120:K427E	.	K	+	1	0	RBAK	5070892	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.641000	0.74324	1.931000	0.55961	0.454000	0.30748	AAG		0.403	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		G	5104366	A	G	5104366	3	3	420	1	0	0	0	0	1	0	0	0	13106	247	9	3	1293	3	RBAK	7	5104366	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08		5104366	154034297	44	22900											
DFNA5	1687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	24738852	24738852	+	Silent	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:24738852T>C	ENST00000342947.3	-	10	1709	c.1284A>G	c.(1282-1284)gtA>gtG	p.V428V	DFNA5_ENST00000545231.1_Silent_p.V264V|DFNA5_ENST00000409970.1_Silent_p.V264V|DFNA5_ENST00000409775.3_Silent_p.V428V|DFNA5_ENST00000419307.1_Silent_p.V264V	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	428					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)		p.V428V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CAAGATCAGATACTCCATCAT	0.408																																					GBM(78;184 1250 20134 20900 23600)											1	Substitution - coding silent(1)	kidney(1)											61	57	58					7																	24738852		2203	4300	6503	SO:0001819	synonymous_variant	1687			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1284A>G	7.37:g.24738852T>C			A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	CCDS5389.1																																																																																				0.408	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		C	24738852	T	C	24738852	2	2	420	1	0	0	0	0	0	0	0	1	4456	1393	49	3		3	DFNA5	7	24738852	Silent	SNP	T	TCGA-BP-5168-01A-01D-1421-08	19634486	24738852	134399811	45	22901											
MLXIPL	51085	broad.mit.edu	37	7	73011708	73011708	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:73011708delG	ENST00000313375.3	-	9	1454	c.1407delC	c.(1405-1407)cccfs	p.P469fs	MLXIPL_ENST00000354613.1_Frame_Shift_Del_p.P469fs|MLXIPL_ENST00000434326.1_Frame_Shift_Del_p.P376fs|MLXIPL_ENST00000395189.1_Frame_Shift_Del_p.P376fs|MLXIPL_ENST00000414749.2_Frame_Shift_Del_p.P469fs|MLXIPL_ENST00000429400.2_Frame_Shift_Del_p.P469fs	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	469					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTATGGGGAAGGGGGTGGGGG	0.677																																																0													2	3	3					7																	73011708		1738	3511	5249	SO:0001589	frameshift_variant	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1407delC	7.37:g.73011708delG	ENSP00000320886:p.Pro469fs		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Frame_Shift_Del	DEL	ENST00000313375.3	37	CCDS5553.1																																																																																				0.677	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		-	73011708	G	-	73011708	7	5	420	1	0	1	0	1	0	0	0	0	9639	987	35	0	1187	0	MLXIPL	7	73011708	Frame_Shift_Del	DEL	G	TCGA-BP-5168-01A-01D-1421-08	48272856	73011708	86126955	46	22902											
PEX1	5189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92132412	92132414	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:92132412_92132414delAAC	ENST00000248633.4	-	13	2262_2264	c.2167_2169delGTT	c.(2167-2169)gttdel	p.V723del	PEX1_ENST00000438045.1_In_Frame_Del_p.V401del|PEX1_ENST00000428214.1_In_Frame_Del_p.V666del|PEX1_ENST00000541751.1_In_Frame_Del_p.V140del	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	723					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTGAGCAGAAACAAGTAAAGGA	0.384																																																0																																										SO:0001651	inframe_deletion	5189			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2167_2169delGTT	7.37:g.92132412_92132414delAAC	ENSP00000248633:p.Val723del		A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	In_Frame_Del	DEL	ENST00000248633.4	37	CCDS5627.1																																																																																				0.384	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		-	92132414	AAC	-	92132412	7	5	420	1	0	1	0	1	0	0	0	0	11737	1	1	0	1730	0	PEX1	7	92132412	In_Frame_Del	DEL	AAC	TCGA-BP-5168-01A-01D-1421-08	19120704	92132412	67006251	47	22903											
THAP5	168451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	108205177	108205177	+	Missense_Mutation	SNP	G	G	T	rs192004311		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:108205177G>T	ENST00000415914.3	-	3	799	c.646C>A	c.(646-648)Cat>Aat	p.H216N	THAP5_ENST00000313516.5_Missense_Mutation_p.H174N|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	216					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)	p.H216N(1)|p.H54N(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AAAGATTGATGAATACTTTCT	0.333																																																2	Substitution - Missense(2)	kidney(2)											52	52	52					7																	108205177		2202	4295	6497	SO:0001583	missense	168451			AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"THAP (C2CH-type zinc finger) domain containing"	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.646C>A	7.37:g.108205177G>T	ENSP00000400500:p.His216Asn			Missense_Mutation	SNP	ENST00000415914.3	37	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	G	0.251	-1.006632	0.02112	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.95980	-3.87;-2.38	4.6	2.73	0.32206	.	3.332770	0.01460	N	0.015825	D	0.88507	0.6455	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.80455	-0.1375	9	.	.	.	.	4.5126	0.11919	0.0884:0.1444:0.5977:0.1694	.	216	Q7Z6K1	THAP5_HUMAN	N	216;174	ENSP00000400500:H216N;ENSP00000322440:H174N	.	H	-	1	0	THAP5	107992413	0.003000	0.15002	0.181000	0.23098	0.308000	0.27856	0.350000	0.20079	1.048000	0.40298	0.650000	0.86243	CAT		0.333	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		T	108205177	G	T	108205177	3	4	420	1	0	0	0	0	1	0	0	0	15852	1290	45	4	545	4	THAP5	7	108205177	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	16072765	108205177	50933486	48	22904											
CAPZA2	830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116538867	116538867	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:116538867A>G	ENST00000361183.3	+	4	336	c.197A>G	c.(196-198)aAa>aGa	p.K66R	CAPZA2_ENST00000490693.1_Missense_Mutation_p.K66R|CAPZA2_ENST00000458284.2_Missense_Mutation_p.K66R	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	66					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.K66R(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			ACTCCAGTAAAAATTGAAGGT	0.289																																																1	Substitution - Missense(1)	kidney(1)											90	96	94					7																	116538867		2202	4295	6497	SO:0001583	missense	830				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"F-actin capping protein alpha-2 subunit"	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.197A>G	7.37:g.116538867A>G	ENSP00000354947:p.Lys66Arg		B4DG50	Missense_Mutation	SNP	ENST00000361183.3	37	CCDS5768.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.119221	0.56505	.	.	ENSG00000198898	ENST00000361183;ENST00000458284;ENST00000490693	.	.	.	5.66	5.66	0.87406	.	0.093057	0.64402	D	0.000001	T	0.70176	0.3194	M	0.83223	2.63	0.80722	D	1	B	0.09022	0.002	B	0.19148	0.024	T	0.67070	-0.5763	8	.	.	.	-8.3349	15.8862	0.79251	1.0:0.0:0.0:0.0	.	66	P47755	CAZA2_HUMAN	R	66	.	.	K	+	2	0	CAPZA2	116326103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.748000	0.91615	2.140000	0.66376	0.460000	0.39030	AAA		0.289	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136		G	116538867	A	G	116538867	3	3	420	1	0	0	0	0	1	0	0	0	2643	14	1	3	211	3	CAPZA2	7	116538867	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	8333690	116538867	42599796	49	22905											
PTPRN2	5799	broad.mit.edu;hgsc.bcm.edu	37	7	157985188	157985188	+	Splice_Site	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:157985188C>T	ENST00000389418.4	-	5	390		c.e5-1		PTPRN2_ENST00000389416.4_Splice_Site|PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000389413.3_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2						negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTTTGAGGGCCTGAAAAAGCA	0.632																																																1	Unknown(1)	kidney(1)											47	54	52					7																	157985188		2203	4299	6502	SO:0001630	splice_region_variant	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.381-1G>A	7.37:g.157985188C>T			E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Splice_Site	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.375737	0.42105	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7262	0.57173	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRN2	157677949	0.993000	0.37304	0.818000	0.32626	0.019000	0.09904	3.062000	0.49971	2.245000	0.73994	0.591000	0.81541	.		0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		Intron	T	157985188	C	T	157985188	5	4	420	1	0	0	0	0	0	0	1	0	12814	695	24	2	2743	2	PTPRN2	7	157985188	Splice_Site	SNP	C	TCGA-BP-5168-01A-01D-1421-08	41446321	157985188	1153475	50	22906											
CSMD1	64478	hgsc.bcm.edu;ucsc.edu	37	8	3141831	3141831	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:3141831delC	ENST00000520002.1	-	27	4546	c.3991delG	c.(3991-3993)gacfs	p.D1331fs	CSMD1_ENST00000542608.1_Frame_Shift_Del_p.D1330fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.D1331fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.D1331fs|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.D1331fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.D1330fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.D1330fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1331	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGAGGATGTCGTGAGCCATC	0.572											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													85	90	88					8																	3141831		2120	4227	6347	SO:0001589	frameshift_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3991delG	8.37:g.3141831delC	ENSP00000430733:p.Asp1331fs	608	Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	ENST00000520002.1	37																																																																																					0.572	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		-	3141831	C	-	3141831	7	5	420	1	0	1	0	1	0	0	0	0	3946	884	31	0	6886	0	CSMD1	8	3141831	Frame_Shift_Del	DEL	C	TCGA-BP-5168-01A-01D-1421-08		3141831	143222191	51	22907											
PLAT	5327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	42036456	42036456	+	Missense_Mutation	SNP	G	G	C	rs538933951	byFrequency	TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:42036456G>C	ENST00000220809.4	-	13	1745	c.1489C>G	c.(1489-1491)Cgg>Ggg	p.R497G	PLAT_ENST00000270189.6_3'UTR|PLAT_ENST00000524009.1_Missense_Mutation_p.R408G|PLAT_ENST00000429710.2_Missense_Mutation_p.R371G|PLAT_ENST00000429089.2_Missense_Mutation_p.R497G|PLAT_ENST00000352041.3_Missense_Mutation_p.R451G|PLAT_ENST00000519510.1_Missense_Mutation_p.R434G	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	497	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.R497G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CCGCCGCTCCGAGTGTCTCCA	0.597																																																1	Substitution - Missense(1)	kidney(1)											83	83	83					8																	42036456		2203	4300	6503	SO:0001583	missense	5327				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1489C>G	8.37:g.42036456G>C	ENSP00000220809:p.Arg497Gly		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331591	0.41297	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.89196	-2.32;-2.32;-2.48;-2.32;-2.34;-2.32	5.5	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.87188	0.6115	N	0.05199	-0.095	0.80722	D	1	D;D;D;P;B;D	0.89917	0.997;0.974;1.0;0.649;0.39;0.995	D;P;D;B;B;D	0.97110	0.939;0.751;1.0;0.408;0.114;0.981	D	0.88943	0.3381	10	0.62326	D	0.03	.	13.4424	0.61121	0.0:0.0:0.7685:0.2315	.	371;408;434;497;451;497	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	G	497;497;451;434;371;408	ENSP00000392045:R497G;ENSP00000220809:R497G;ENSP00000270188:R451G;ENSP00000428886:R434G;ENSP00000407861:R371G;ENSP00000429401:R408G	ENSP00000220809:R497G	R	-	1	2	PLAT	42155613	0.592000	0.26832	0.021000	0.16686	0.001000	0.01503	2.598000	0.46223	2.735000	0.93741	0.655000	0.94253	CGG		0.597	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		C	42036456	G	C	42036456	3	2	420	1	0	0	0	0	1	0	0	0	12023	1057	37	4	207	4	PLAT	8	42036456	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	38894625	42036456	104327566	52	22908											
NCOA2	10499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	71050557	71050557	+	Silent	SNP	T	T	C	rs377408628		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:71050557T>C	ENST00000452400.2	-	15	3220	c.3039A>G	c.(3037-3039)gaA>gaG	p.E1013E	NCOA2_ENST00000267974.4_Silent_p.E101E	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1013					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.E1013E(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCATCTCTAATTCAGATGGCC	0.418			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	1	Substitution - coding silent(1)	kidney(1)											82	77	79					8																	71050557		1825	4082	5907	SO:0001819	synonymous_variant	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3039A>G	8.37:g.71050557T>C			Q14CD2	Silent	SNP	ENST00000452400.2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	T	8.666	0.901604	0.17760	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.88	0.389	0.16269	.	.	.	.	.	T	0.57844	0.2081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51973	-0.8637	4	.	.	.	.	10.0974	0.42484	0.0:0.4051:0.0:0.5949	.	.	.	.	S	114	.	.	N	-	2	0	NCOA2	71213111	0.980000	0.34600	0.990000	0.47175	0.988000	0.76386	0.764000	0.26532	0.048000	0.15891	0.533000	0.62120	AAT		0.418	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			C	71050557	T	C	71050557	2	2	420	1	0	0	0	0	0	0	0	1	10231	1490	52	3		3	NCOA2	8	71050557	Silent	SNP	T	TCGA-BP-5168-01A-01D-1421-08	29014101	71050557	75313465	53	22909											
OTUD6B	51633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	92083453	92083453	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:92083453A>C	ENST00000285420.4	+	2	359	c.260A>C	c.(259-261)aAa>aCa	p.K87T	GS1-251I9.4_ENST00000522817.1_RNA|OTUD6B_ENST00000404789.3_5'UTR|GS1-251I9.4_ENST00000524003.1_RNA	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	57							cysteine-type peptidase activity (GO:0008234)	p.K87T(1)|p.K57T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAGTTGGAAAAAGAAATGGAA	0.413																																																2	Substitution - Missense(2)	kidney(2)											136	131	133					8																	92083453		2203	4300	6503	SO:0001583	missense	51633				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.260A>C	8.37:g.92083453A>C	ENSP00000285420:p.Lys87Thr		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	A	5.527	0.282178	0.10458	.	.	ENSG00000155100	ENST00000285420	D	0.95588	-3.75	5.73	-0.134	0.13481	.	0.514651	0.22646	N	0.057397	D	0.84995	0.5596	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.71427	-0.4596	10	0.14656	T	0.56	-1.6563	13.2838	0.60230	0.1157:0.6023:0.282:0.0	.	57	Q8N6M0	OTU6B_HUMAN	T	87	ENSP00000285420:K87T	ENSP00000285420:K87T	K	+	2	0	OTUD6B	92152629	1.000000	0.71417	0.989000	0.46669	0.002000	0.02628	1.843000	0.39259	0.019000	0.15079	-0.466000	0.05196	AAA		0.413	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		C	92083453	A	C	92083453	3	2	420	1	0	0	0	0	1	0	0	0	11319	14	1	5	266	5	OTUD6B	8	92083453	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	21032896	92083453	54280569	54	22910											
TMEM67	91147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	94821184	94821184	+	Splice_Site	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:94821184G>A	ENST00000453321.3	+	24	2614	c.2556G>A	c.(2554-2556)agG>agA	p.R852R	TMEM67_ENST00000409623.3_Splice_Site_p.R771R	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	852					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)	p.R852R(1)|p.R842R(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CACTAATAAGGGTTTGTATAA	0.318																																																2	Substitution - coding silent(2)	kidney(2)											56	54	55					8																	94821184		2203	4300	6503	SO:0001630	splice_region_variant	91147			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2556+1G>A	8.37:g.94821184G>A			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	37	CCDS6258.2																																																																																				0.318	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704	Silent	A	94821184	G	A	94821184	5	1	420	1	0	0	0	0	0	0	1	0	16201	1246	43	2	2788	2	TMEM67	8	94821184	Splice_Site	SNP	G	TCGA-BP-5168-01A-01D-1421-08	2737731	94821184	51542838	55	22911											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu	37	8	113421242	113421242	+	Silent	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:113421242T>C	ENST00000297405.5	-	33	5659	c.5415A>G	c.(5413-5415)gtA>gtG	p.V1805V	CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Silent_p.V1765V|CSMD3_ENST00000455883.2_Silent_p.V1701V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1805	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V1805V(1)|p.V1765V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGGAAAAATACAAACTGGC	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - coding silent(2)	kidney(2)											132	121	125					8																	113421242		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5415A>G	8.37:g.113421242T>C			Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		C	113421242	T	C	113421242	2	2	420	1	0	0	0	0	0	0	0	1	3948	1393	49	3		3	CSMD3	8	113421242	Silent	SNP	T	TCGA-BP-5168-01A-01D-1421-08	18600058	113421242	32942780	56	22912											
COLEC10	10584	broad.mit.edu;hgsc.bcm.edu	37	8	120101991	120101991	+	Splice_Site	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:120101991G>A	ENST00000332843.2	+	2	261		c.e2+1		COLEC10_ENST00000521788.1_Splice_Site	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)							collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.?(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGGCCGAAAGGTAACTAAAAT	0.423																																																1	Unknown(1)	kidney(1)											114	99	104					8																	120101991		2203	4300	6503	SO:0001630	splice_region_variant	10584			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.220+1G>A	8.37:g.120101991G>A			Q3SYH6|Q6UW19	Splice_Site	SNP	ENST00000332843.2	37	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052535	0.36181	.	.	ENSG00000184374	ENST00000332843	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7986	0.78433	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COLEC10	120171172	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	5.095000	0.64529	2.793000	0.96121	0.655000	0.94253	.		0.423	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1		Intron	A	120101991	G	A	120101991	5	1	420	1	0	0	0	0	0	0	1	0	3712	1275	44	2	227	2	COLEC10	8	120101991	Splice_Site	SNP	G	TCGA-BP-5168-01A-01D-1421-08	6680749	120101991	26262031	57	22913											
FLJ43860	389690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	142445230	142445230	+	RNA	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:142445230G>C	ENST00000606664.1	+	0	586				MROH5_ENST00000430863.1_RNA																							CTCTCACCAGGCAGGTCCAGA	0.682																																																0													21	27	25					8																	142445230		2005	4154	6159			0																															8.37:g.142445230G>C				Missense_Mutation	SNP	ENST00000606664.1	37																																																																																					0.682	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			C	142445230	G	C	142445230	1	2	420	0	1	0	0	0	0	0	0	0	5932	1195	42	4		4	FLJ43860	8	142445230	RNA	SNP	G	TCGA-BP-5168-01A-01D-1421-08	22343239	142445230	3918792	58	22914											
TOP1MT	116447	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144411529	144411529	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:144411529G>A	ENST00000329245.4	-	3	385	c.351C>T	c.(349-351)gaC>gaT	p.D117D	TOP1MT_ENST00000521193.1_Silent_p.D19D|TOP1MT_ENST00000519148.1_Silent_p.D19D|TOP1MT_ENST00000523676.1_Silent_p.D19D	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	117					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)	p.D117D(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CCTTTCGCCAGTCATTGAAGA	0.567																																																1	Substitution - coding silent(1)	kidney(1)											150	134	140					8																	144411529		2203	4300	6503	SO:0001819	synonymous_variant	116447			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.351C>T	8.37:g.144411529G>A			B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	ENST00000329245.4	37	CCDS6400.1																																																																																				0.567	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		A	144411529	G	A	144411529	2	1	420	1	0	0	0	0	0	0	0	1	16369	1020	36	2		2	TOP1MT	8	144411529	Silent	SNP	G	TCGA-BP-5168-01A-01D-1421-08	1966299	144411529	1952493	59	22915											
SCRIB	23513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144874929	144874929	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:144874929G>A	ENST00000320476.3	-	30	4132	c.4126C>T	c.(4126-4128)Cgc>Tgc	p.R1376C	RP11-429J17.8_ENST00000532625.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.R1295C|SCRIB_ENST00000546337.1_5'UTR|RP11-429J17.8_ENST00000534089.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.R1376C|RP11-429J17.8_ENST00000527139.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1376					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.R1376C(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGGACACGCGCTTAGGGGGG	0.697																																					Pancreas(51;966 1133 10533 14576 29674)											2	Substitution - Missense(2)	kidney(2)											18	17	17					8																	144874929		2197	4291	6488	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4126C>T	8.37:g.144874929G>A	ENSP00000322938:p.Arg1376Cys		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.47|15.47	2.843139|2.843139	0.51057|0.51057	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000526832|ENST00000356994;ENST00000320476;ENST00000377533	.|T;T;T	.|0.48201	.|1.03;0.98;0.82	4.71|4.71	2.64|2.64	0.31445|0.31445	.|.	.|.	.|.	.|.	.|.	T|T	0.64472|0.64472	0.2601|0.2601	M|M	0.74258|0.74258	2.255|2.255	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.993;0.966;0.997	T|T	0.65940|0.65940	-0.6046|-0.6046	5|9	.|0.72032	.|D	.|0.01	.|.	9.3159|9.3159	0.37934|0.37934	0.0896:0.0:0.7562:0.1542|0.0896:0.0:0.7562:0.1542	.|.	.|1376;1376;1295	.|Q14160;Q14160-3;Q14160-2	.|SCRIB_HUMAN;.;.	V|C	371|1376;1376;1295	.|ENSP00000349486:R1376C;ENSP00000322938:R1376C;ENSP00000366756:R1295C	.|ENSP00000322938:R1376C	A|R	-|-	2|1	0|0	SCRIB|SCRIB	144946917|144946917	1.000000|1.000000	0.71417|0.71417	0.789000|0.789000	0.31954|0.31954	0.205000|0.205000	0.24178|0.24178	3.774000|3.774000	0.55341|0.55341	0.976000|0.976000	0.38417|0.38417	0.491000|0.491000	0.48974|0.48974	GCG|CGC		0.697	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		A	144874929	G	A	144874929	3	1	420	1	0	0	0	0	1	0	0	0	13943	1087	38	1	873	1	SCRIB	8	144874929	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	463400	144874929	1489093	60	22916											
ACO1	48	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32425989	32425989	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:32425989G>C	ENST00000309951.6	+	11	1480	c.1342G>C	c.(1342-1344)Ggg>Cgg	p.G448R	ACO1_ENST00000379923.1_Missense_Mutation_p.G448R|ACO1_ENST00000541043.1_Missense_Mutation_p.G349R	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	448					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.G448R(2)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGTGATGTTAGGGGCAGGTAA	0.483																																																2	Substitution - Missense(2)	kidney(2)											155	114	128					9																	32425989		2203	4300	6503	SO:0001583	missense	48			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1342G>C	9.37:g.32425989G>C	ENSP00000309477:p.Gly448Arg		D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085792	0.94100	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.18016	2.24;2.24;2.24	5.74	5.74	0.90152	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.045466	0.85682	D	0.000000	T	0.34366	0.0895	L	0.35414	1.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02190	-1.1198	10	0.87932	D	0	-19.3598	19.0685	0.93123	0.0:0.0:1.0:0.0	.	484;448	Q59FI0;P21399	.;ACOC_HUMAN	R	484;448;448;349	ENSP00000309477:G448R;ENSP00000369255:G448R;ENSP00000438733:G349R	ENSP00000309477:G448R	G	+	1	0	ACO1	32415989	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.929000	0.87595	2.873000	0.98535	0.563000	0.77884	GGG		0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		C	32425989	G	C	32425989	3	2	420	1	0	0	0	0	1	0	0	0	146	1000	35	4	1380	4	ACO1	9	32425989	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08		32425989	108787442	61	22917											
C9orf84	158401	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	114518734	114518734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:114518734C>A	ENST00000318737.4	-	6	669	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	C9orf84_ENST00000394777.4_Nonsense_Mutation_p.E142*|C9orf84_ENST00000394779.3_Nonsense_Mutation_p.E142*|C9orf84_ENST00000374283.5_Nonsense_Mutation_p.E245*|C9orf84_ENST00000374287.3_Nonsense_Mutation_p.E181*	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	181								p.E181*(1)|p.E142*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTAAGAATTCATACTCAATA	0.313																																																2	Substitution - Nonsense(2)	kidney(2)											60	63	62					9																	114518734		2202	4294	6496	SO:0001587	stop_gained	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.541G>T	9.37:g.114518734C>A	ENSP00000322108:p.Glu181*		A2A2V3|Q2M1H8|Q96M73	Nonsense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632110	0.67015	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	.	.	.	5.77	3.9	0.45041	.	0.350989	0.24681	N	0.036479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-6.8572	8.6411	0.33978	0.0:0.8158:0.0:0.1842	.	.	.	.	X	142;142;181;181;245	.	ENSP00000322108:E181X	E	-	1	0	C9orf84	113558555	0.993000	0.37304	0.551000	0.28230	0.014000	0.08584	1.310000	0.33551	1.415000	0.47037	0.655000	0.94253	GAA		0.313	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		A	114518734	C	A	114518734	4	1	420	1	0	0	0	0	0	1	0	0	2502	835	29	4	3877	4	C9orf84	9	114518734	Nonsense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	82092745	114518734	26694697	62	22918											
OR1B1	347169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125391234	125391234	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:125391234G>A	ENST00000304833.3	-	1	618	c.581C>T	c.(580-582)tCt>tTt	p.S194F	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S194F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTCAGAACAAGAGGCTCGCAG	0.527																																																1	Substitution - Missense(1)	kidney(1)											47	46	46					9																	125391234		2203	4300	6503	SO:0001583	missense	347169			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"GPCR / Class A : Olfactory receptors"	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.581C>T	9.37:g.125391234G>A	ENSP00000303151:p.Ser194Phe		Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888409	0.72524	.	.	ENSG00000171484	ENST00000304833	T	0.00299	8.22	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000475	T	0.00815	0.0027	M	0.85945	2.785	0.34928	D	0.749083	D	0.89917	1.0	D	0.83275	0.996	T	0.63765	-0.6563	10	0.72032	D	0.01	-14.1575	16.7882	0.85579	0.0:0.0:1.0:0.0	.	194	Q8NGR6	OR1B1_HUMAN	F	194	ENSP00000303151:S194F	ENSP00000303151:S194F	S	-	2	0	OR1B1	124431055	0.062000	0.20869	0.941000	0.38009	0.914000	0.54420	2.348000	0.44045	2.549000	0.85964	0.650000	0.86243	TCT		0.527	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		A	125391234	G	A	125391234	3	1	420	1	0	0	0	0	1	0	0	0	10953	942	33	2	378	2	OR1B1	9	125391234	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	10872500	125391234	15822197	63	22919											
FPGS	2356	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130575544	130575544	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:130575544C>G	ENST00000373247.2	+	15	1475	c.1425C>G	c.(1423-1425)aaC>aaG	p.N475K	FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000460181.1_3'UTR|RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000373225.3_Missense_Mutation_p.N425K|FPGS_ENST00000393706.2_Missense_Mutation_p.N449K	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	475					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)	p.N475K(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	AGCACTGGAACCACCTGGACG	0.652																																																1	Substitution - Missense(1)	kidney(1)											52	47	49					9																	130575544		2203	4300	6503	SO:0001583	missense	2356				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1425C>G	9.37:g.130575544C>G	ENSP00000362344:p.Asn475Lys		B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	C	1.294	-0.606795	0.03717	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.12672	3.07;3.07;2.66	5.03	3.18	0.36537	.	0.463106	0.25211	N	0.032306	T	0.07458	0.0188	L	0.28274	0.84	0.58432	D	0.999992	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.22871	-1.0204	10	0.13853	T	0.58	-10.8719	4.3001	0.10920	0.0:0.5418:0.1877:0.2705	.	449;475	Q05932-4;Q05932	.;FOLC_HUMAN	K	475;449;425	ENSP00000362344:N475K;ENSP00000377309:N449K;ENSP00000362322:N425K	ENSP00000362322:N425K	N	+	3	2	FPGS	129615365	0.000000	0.05858	0.894000	0.35097	0.785000	0.44390	0.055000	0.14229	1.117000	0.41842	0.555000	0.69702	AAC		0.652	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			G	130575544	C	G	130575544	3	3	420	1	0	0	0	0	1	0	0	0	6038	506	18	4	1483	4	FPGS	9	130575544	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	5184310	130575544	10637887	64	22920											
LAMC3	10319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133914405	133914405	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:133914405G>A	ENST00000361069.4	+	5	1264	c.1131G>A	c.(1129-1131)cgG>cgA	p.R377R	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	377	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.R377R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGGACCCGCGGATGCCATGCC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											41	43	42					9																	133914405		2203	4300	6503	SO:0001819	synonymous_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1131G>A	9.37:g.133914405G>A			B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																				0.647	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		A	133914405	G	A	133914405	2	1	420	1	0	0	0	0	0	0	0	1	8618	1161	41	2		2	LAMC3	9	133914405	Silent	SNP	G	TCGA-BP-5168-01A-01D-1421-08	3338861	133914405	7299026	65	22921											
ADAMTS13	11093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136290722	136290722	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:136290722C>T	ENST00000371929.3	+	4	848	c.404C>T	c.(403-405)aCa>aTa	p.T135I	ADAMTS13_ENST00000371916.1_Missense_Mutation_p.T135I|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.T135I|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.T135I|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.T135I	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	135	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T135I(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTCATTCTGACAGAGCCTGAG	0.572																																																1	Substitution - Missense(1)	kidney(1)											68	50	56					9																	136290722		2203	4299	6502	SO:0001583	missense	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.404C>T	9.37:g.136290722C>T	ENSP00000360997:p.Thr135Ile		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575687	0.28092	.	.	ENSG00000160323	ENST00000371929;ENST00000371916;ENST00000355699;ENST00000356589;ENST00000371911;ENST00000338351	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	4.57	2.69	0.31865	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.90700	0.7082	M	0.80982	2.52	0.80722	D	1	D;D;P;D	0.67145	0.989;0.987;0.951;0.996	D;P;P;P	0.64687	0.928;0.844;0.675;0.894	D	0.87316	0.2315	9	0.49607	T	0.09	.	4.6847	0.12752	0.1546:0.6082:0.1501:0.0871	.	135;135;135;135	Q76LX8;Q76LX8-3;Q76LX8-2;E7EV88	ATS13_HUMAN;.;.;.	I	135;135;135;135;135;5	ENSP00000360997:T135I;ENSP00000360984:T135I;ENSP00000347927:T135I;ENSP00000348997:T135I;ENSP00000360979:T135I	ENSP00000345120:T5I	T	+	2	0	ADAMTS13	135280543	0.995000	0.38212	0.011000	0.14972	0.047000	0.14425	3.266000	0.51569	0.354000	0.24105	-0.534000	0.04291	ACA		0.572	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		T	136290722	C	T	136290722	3	4	420	1	0	0	0	0	1	0	0	0	258	478	17	2	418	2	ADAMTS13	9	136290722	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	2376317	136290722	4922709	66	22922											
IDI2	91734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	1066837	1066837	+	Splice_Site	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr10:1066837C>G	ENST00000277517.1	-	4	300	c.236G>C	c.(235-237)gGg>gCg	p.G79A	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	79	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)	p.G79A(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GGTAAAATACCCTGGAAAAAA	0.443																																																1	Substitution - Missense(1)	kidney(1)											89	86	87					10																	1066837		2203	4300	6503	SO:0001630	splice_region_variant	91734			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.236-1G>C	10.37:g.1066837C>G				Missense_Mutation	SNP	ENST00000277517.1	37	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869926	0.33069	.	.	ENSG00000148377	ENST00000277517	T	0.11495	2.77	3.93	3.01	0.34805	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.054535	0.64402	U	0.000001	T	0.26882	0.0658	M	0.77103	2.36	0.45318	D	0.998317	D	0.89917	1.0	D	0.74023	0.982	T	0.02821	-1.1106	10	0.26408	T	0.33	.	7.668	0.28443	0.0:0.7331:0.0:0.2669	.	79	Q9BXS1	IDI2_HUMAN	A	79	ENSP00000277517:G79A	ENSP00000277517:G79A	G	-	2	0	IDI2	1056837	0.984000	0.35163	0.396000	0.26296	0.231000	0.25187	2.520000	0.45554	0.763000	0.33175	0.185000	0.17295	GGG		0.443	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261	Missense_Mutation	G	1066837	C	G	1066837	5	3	420	1	0	0	0	0	0	0	1	0	7502	637	22	4	455	4	IDI2	10	1066837	Splice_Site	SNP	C	TCGA-BP-5168-01A-01D-1421-08		1066837	134467910	67	22923											
TACR2	6865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	71166878	71166878	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr10:71166878G>A	ENST00000373306.4	-	4	1443	c.900C>T	c.(898-900)acC>acT	p.T300T	TACR2_ENST00000373307.1_Silent_p.T88T	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	300					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)	p.T300T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GATTGTACATGGTAGAGCTCA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											229	192	205					10																	71166878		2203	4300	6503	SO:0001819	synonymous_variant	6865				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"GPCR / Class A : Tachykinin receptors"	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.900C>T	10.37:g.71166878G>A			A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	ENST00000373306.4	37	CCDS7293.1																																																																																				0.587	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			A	71166878	G	A	71166878	2	1	420	1	0	0	0	0	0	0	0	1	15511	1335	47	2		2	TACR2	10	71166878	Silent	SNP	G	TCGA-BP-5168-01A-01D-1421-08	70100041	71166878	64367869	68	22924											
IDE	3416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	94297189	94297189	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr10:94297189T>A	ENST00000265986.6	-	2	273	c.217A>T	c.(217-219)Atc>Ttc	p.I73F		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	73					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.I73F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	AGTACTTTGATACCATTGGCC	0.403																																																1	Substitution - Missense(1)	kidney(1)											230	204	213					10																	94297189		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.217A>T	10.37:g.94297189T>A	ENSP00000265986:p.Ile73Phe		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508438	0.64410	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.31247	1.5;1.5	5.58	5.58	0.84498	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.066143	0.64402	D	0.000004	T	0.24470	0.0593	N	0.19112	0.55	0.80722	D	1	B	0.29627	0.252	B	0.30401	0.115	T	0.07770	-1.0755	10	0.87932	D	0	-10.4466	15.7482	0.77962	0.0:0.0:0.0:1.0	.	73	P14735	IDE_HUMAN	F	73;59	ENSP00000265986:I73F;ENSP00000408850:I59F	ENSP00000265986:I73F	I	-	1	0	IDE	94287169	1.000000	0.71417	0.922000	0.36590	0.960000	0.62799	6.163000	0.71880	2.120000	0.65058	0.533000	0.62120	ATC		0.403	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		A	94297189	T	A	94297189	3	1	420	1	0	0	0	0	1	0	0	0	7495	1406	49	5	2938	5	IDE	10	94297189	Missense_Mutation	SNP	T	TCGA-BP-5168-01A-01D-1421-08	23130311	94297189	41237558	69	22925											
ZDHHC16	84287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99213291	99213292	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr10:99213291_99213292GC>TA	ENST00000370854.3	+	6	750_751	c.561_562GC>TA	c.(559-564)tgGCta>tgTAta	p.187_188WL>CI	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.122_123WL>CI|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.187_188WL>CI|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.187_188WL>CI|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.187_188WL>CI|ZDHHC16_ENST00000353979.3_Intron	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	187					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.W187>?(1)|p.L188I(1)|p.W187C(1)		kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		AACCAGCCTGGCTAAACAATTG	0.475																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	84287			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	Exception_encountered	10.37:g.99213291_99213292delinsTA	ENSP00000359891:p.W187_L188delinsCI		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	CCDS7460.1																																																																																				0.475	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		TA	99213292	GC	TA	99213291	3	4	420	1	0	0	0	0	1	0	0	0	17611	1212	42	4	579	4	ZDHHC16	10	99213291	Missense_Mutation	DNP	GC	TCGA-BP-5168-01A-01D-1421-08	4916102	99213291	36321456	70	22926											
HPS6	79803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103827518	103827518	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr10:103827518G>T	ENST00000299238.5	+	1	2372	c.2287G>T	c.(2287-2289)Gac>Tac	p.D763Y		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	763					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)	p.D763Y(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CATCCTATGGGACCCCAGCAC	0.607									Hermansky-Pudlak syndrome																																							1	Substitution - Missense(1)	kidney(1)											37	40	39					10																	103827518		2194	4275	6469	SO:0001583	missense	79803	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.2287G>T	10.37:g.103827518G>T	ENSP00000299238:p.Asp763Tyr		Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	8.052	0.766173	0.15983	.	.	ENSG00000166189	ENST00000299238	T	0.81415	-1.49	4.98	4.09	0.47781	.	0.338109	0.31156	N	0.008158	D	0.82761	0.5107	L	0.57536	1.79	0.27572	N	0.949852	P	0.39940	0.696	P	0.51355	0.667	T	0.77043	-0.2734	10	0.72032	D	0.01	-11.436	9.2782	0.37711	0.17:0.0:0.83:0.0	.	763	Q86YV9	HPS6_HUMAN	Y	763	ENSP00000299238:D763Y	ENSP00000299238:D763Y	D	+	1	0	HPS6	103817508	1.000000	0.71417	0.512000	0.27736	0.005000	0.04900	3.491000	0.53252	1.333000	0.45449	-0.137000	0.14449	GAC		0.607	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		T	103827518	G	T	103827518	3	4	420	1	0	0	0	0	1	0	0	0	7345	1174	41	4	2289	4	HPS6	10	103827518	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	4614227	103827518	31707229	71	22927											
EPS8L2	64787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	710481	710481	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:710481G>C	ENST00000533256.1	+	5	535	c.160G>C	c.(160-162)Gtc>Ctc	p.V54L	EPS8L2_ENST00000318562.8_Missense_Mutation_p.V54L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.V54L|EPS8L2_ENST00000526198.1_Missense_Mutation_p.V54L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	54	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)	p.V54L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGTACCACGTCCAGGTAAG	0.577																																																1	Substitution - Missense(1)	kidney(1)											148	122	131					11																	710481		2203	4300	6503	SO:0001583	missense	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.160G>C	11.37:g.710481G>C	ENSP00000435585:p.Val54Leu		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988391	0.93106	.	.	ENSG00000177106	ENST00000524763;ENST00000318562;ENST00000533256;ENST00000534755;ENST00000533500;ENST00000531348;ENST00000530636;ENST00000526198	T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	3.89	3.89	0.44902	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.71048	0.3294	M	0.78801	2.425	0.58432	D	0.999999	D;D;D	0.76494	0.993;0.999;0.991	P;D;P	0.71184	0.883;0.972;0.787	T	0.74438	-0.3665	10	0.48119	T	0.1	-45.7822	15.1795	0.72945	0.0:0.0:1.0:0.0	.	54;82;54	B7ZKL3;B4DFD2;Q9H6S3	.;.;ES8L2_HUMAN	L	54	ENSP00000435128:V54L;ENSP00000320828:V54L;ENSP00000435585:V54L;ENSP00000432923:V54L;ENSP00000433223:V54L;ENSP00000432765:V54L;ENSP00000436035:V54L;ENSP00000436230:V54L	ENSP00000320828:V54L	V	+	1	0	EPS8L2	700481	1.000000	0.71417	0.974000	0.42286	0.723000	0.41478	8.574000	0.90763	2.187000	0.69744	0.555000	0.69702	GTC		0.577	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		C	710481	G	C	710481	3	2	420	1	0	0	0	0	1	0	0	0	5198	1145	40	4	170	4	EPS8L2	11	710481	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08		710481	134296035	72	22928											
MUC6	4588	broad.mit.edu;hgsc.bcm.edu	37	11	1017614	1017614	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:1017614G>A	ENST00000421673.2	-	31	5237	c.5187C>T	c.(5185-5187)acC>acT	p.T1729T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1729	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1729T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCCACTGGTGGTCACTGTCA	0.537																																																2	Substitution - coding silent(2)	kidney(2)											426	437	433					11																	1017614		2178	4264	6442	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5187C>T	11.37:g.1017614G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1017614	G	A	1017614	2	1	420	1	0	0	0	0	0	0	0	1	9982	1335	47	2		2	MUC6	11	1017614	Silent	SNP	G	TCGA-BP-5168-01A-01D-1421-08	307133	1017614	133988902	73	22929											
OR51A2	401667	broad.mit.edu;hgsc.bcm.edu	37	11	4976107	4976107	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:4976107A>C	ENST00000380371.1	-	1	836	c.837T>G	c.(835-837)aaT>aaG	p.N279K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N279K(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGGAGAACATTTGCCATGA	0.438																																																1	Substitution - Missense(1)	kidney(1)											91	73	79					11																	4976107		2076	3808	5884	SO:0001583	missense	401667			AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.837T>G	11.37:g.4976107A>C	ENSP00000369729:p.Asn279Lys			Missense_Mutation	SNP	ENST00000380371.1	37	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	12.11	1.838187	0.32513	.	.	ENSG00000205496	ENST00000380371	T	0.37915	1.17	3.26	0.866	0.19079	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.44953	0.1318	M	0.88512	2.96	0.09310	N	1	P	0.37731	0.607	B	0.42692	0.395	T	0.47142	-0.9140	9	0.72032	D	0.01	.	3.0609	0.06199	0.4607:0.0:0.3451:0.1942	.	279	Q8NGJ7	O51A2_HUMAN	K	279	ENSP00000369729:N279K	ENSP00000369729:N279K	N	-	3	2	OR51A2	4932683	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.302000	0.02746	0.057000	0.16193	0.412000	0.27726	AAT		0.438	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		C	4976107	A	C	4976107	3	2	420	1	0	0	0	0	1	0	0	0	11088	214	8	5	106	5	OR51A2	11	4976107	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	3958493	4976107	130030409	74	22930											
TMEM179B	374395	broad.mit.edu;ucsc.edu	37	11	62557433	62557433	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:62557433A>G	ENST00000333449.4	+	5	579	c.574A>G	c.(574-576)Acc>Gcc	p.T192A	TMEM223_ENST00000527073.1_Intron|NXF1_ENST00000533048.1_5'Flank|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000525631.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	192						integral component of membrane (GO:0016021)		p.T192A(1)		kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTCTGAAGCCACCCCATACCG	0.552																																																1	Substitution - Missense(1)	kidney(1)											147	142	144					11																	62557433		2201	4299	6500	SO:0001583	missense	374395			BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.574A>G	11.37:g.62557433A>G	ENSP00000333697:p.Thr192Ala			Missense_Mutation	SNP	ENST00000333449.4	37	CCDS8036.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.684838	0.29872	.	.	ENSG00000185475	ENST00000333449	.	.	.	5.71	-2.93	0.05598	.	0.926326	0.09282	N	0.823529	T	0.35885	0.0947	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31613	-0.9937	9	0.38643	T	0.18	.	6.1055	0.20071	0.3258:0.3323:0.3419:0.0	.	192	Q7Z7N9	T179B_HUMAN	A	192	.	ENSP00000333697:T192A	T	+	1	0	TMEM179B	62314009	0.000000	0.05858	0.000000	0.03702	0.979000	0.70002	-0.561000	0.05957	-0.413000	0.07507	0.459000	0.35465	ACC		0.552	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337		G	62557433	A	G	62557433	3	3	420	1	0	0	0	0	1	0	0	0	16102	159	6	3	592	3	TMEM179B	11	62557433	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	57581326	62557433	72449083	75	22931											
B3GNT6	192134	broad.mit.edu;hgsc.bcm.edu	37	11	76751055	76751055	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:76751055C>T	ENST00000533140.1	+	2	598	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F	B3GNT6_ENST00000354301.5_Missense_Mutation_p.L154F|B3GNT6_ENST00000421061.1_Missense_Mutation_p.L65F			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)	p.L154F(1)		central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						AGTGCGCCGCCTCTTTCTATT	0.746																																																1	Substitution - Missense(1)	kidney(1)											5	6	6					11																	76751055		1639	3692	5331	SO:0001583	missense	192134			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"Beta 3-glycosyltransferases"	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.460C>T	11.37:g.76751055C>T	ENSP00000435352:p.Leu154Phe		Q4TTN0	Missense_Mutation	SNP	ENST00000533140.1	37	CCDS53681.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.140792	0.37825	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000421061	T;T;T	0.50001	0.76;0.76;0.76	3.28	2.33	0.28932	.	0.218991	0.38326	N	0.001725	T	0.54255	0.1847	L	0.55103	1.725	0.30748	N	0.745409	D	0.57257	0.979	D	0.65233	0.933	T	0.53173	-0.8476	10	0.40728	T	0.16	.	5.9007	0.18965	0.2222:0.5615:0.2162:0.0	.	154	Q6ZMB0	B3GN6_HUMAN	F	154;154;65	ENSP00000435352:L154F;ENSP00000346256:L154F;ENSP00000403463:L65F	ENSP00000346256:L154F	L	+	1	0	B3GNT6	76428703	0.000000	0.05858	1.000000	0.80357	0.180000	0.23129	-0.374000	0.07484	0.892000	0.36259	0.462000	0.41574	CTC		0.746	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		T	76751055	C	T	76751055	3	4	420	1	0	0	0	0	1	0	0	0	1261	681	24	2	462	2	B3GNT6	11	76751055	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	14193622	76751055	58255461	76	22932											
MLL	4297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118352713	118352713	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:118352713G>A	ENST00000389506.5	+	7	3918	c.3918G>A	c.(3916-3918)ccG>ccA	p.P1306P	KMT2A_ENST00000534358.1_Silent_p.P1306P|KMT2A_ENST00000354520.4_Silent_p.P1306P|KMT2A_ENST00000420751.2_3'UTR			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1306					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.P1306P(2)									TGGTCATCCCGCCTCAGCCAC	0.562																																																2	Substitution - coding silent(2)	kidney(2)											48	49	49					11																	118352713		2200	4296	6496	SO:0001819	synonymous_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3918G>A	11.37:g.118352713G>A			E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																				0.562	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		A	118352713	G	A	118352713	2	1	420	1	0	0	0	0	0	0	0	1	9622	1074	38	1		1	MLL	11	118352713	Silent	SNP	G	TCGA-BP-5168-01A-01D-1421-08	41601658	118352713	16653803	77	22933											
OR8G2	0	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124095984	124095984	+	IGR	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:124095984C>T								OR10D3 (39032 upstream) : OR8G1 (24438 downstream)																							GATCTCTTCCCTCTCTTGGGG	0.428																																																0													174	178	177					11																	124095984		1955	4174	6129	SO:0001628	intergenic_variant	26492																															11.37:g.124095984C>T				Missense_Mutation	SNP		37																																																																																				0	0.428									T	124095984	C	T	124095984	1	4	420	0	1	0	0	0	0	0	0	0	11237	681	24	2		2	OR8G2	11	124095984	IGR	SNP	C	TCGA-BP-5168-01A-01D-1421-08	5743271	124095984	10910532	78	22934											
LPCAT3	10162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7086391	7086391	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:7086391A>T	ENST00000261407.4	-	12	1466	c.1381T>A	c.(1381-1383)Ttc>Atc	p.F461I	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	461					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)	p.F461I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						CTCAGGAAGAAGATGTGGCCA	0.433																																																1	Substitution - Missense(1)	kidney(1)											91	92	92					12																	7086391		2203	4300	6503	SO:0001583	missense	10162			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1381T>A	12.37:g.7086391A>T	ENSP00000261407:p.Phe461Ile		B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.264168	0.59431	.	.	ENSG00000111684	ENST00000261407	T	0.69806	-0.43	4.77	3.59	0.41128	.	0.105263	0.64402	D	0.000003	T	0.38081	0.1027	N	0.05078	-0.115	0.54753	D	0.999986	P	0.35077	0.483	B	0.30943	0.122	T	0.26258	-1.0108	10	0.07990	T	0.79	-11.4778	11.4817	0.50328	0.8493:0.1507:0.0:0.0	.	461	Q6P1A2	MBOA5_HUMAN	I	461	ENSP00000261407:F461I	ENSP00000261407:F461I	F	-	1	0	LPCAT3	6956652	0.994000	0.37717	1.000000	0.80357	0.932000	0.56968	1.453000	0.35167	0.822000	0.34565	0.459000	0.35465	TTC		0.433	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		T	7086391	A	T	7086391	3	4	420	1	0	0	0	0	1	0	0	0	8914	72	3	5	86	5	LPCAT3	12	7086391	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08		7086391	126765504	79	22935											
CLEC12A	160364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10132016	10132016	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:10132016T>C	ENST00000304361.4	+	3	454	c.272T>C	c.(271-273)cTa>cCa	p.L91P	CLEC12A_ENST00000434319.2_Missense_Mutation_p.L91P|CLEC12A_ENST00000350667.4_Missense_Mutation_p.L58P|CLEC12A_ENST00000355690.4_Missense_Mutation_p.L101P	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.L101P(1)|p.L91P(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						AATATTTCTCTACAACTGATG	0.348																																					Melanoma(197;1487 2125 16611 22221 34855)											2	Substitution - Missense(2)	kidney(2)											68	63	64					12																	10132016		2203	4300	6503	SO:0001583	missense	160364			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.272T>C	12.37:g.10132016T>C	ENSP00000302804:p.Leu91Pro		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.037260	0.35893	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T;T	0.08193	4.44;3.12;4.45;3.88;4.37	4.62	3.43	0.39272	C-type lectin-like (1);	.	.	.	.	T	0.23649	0.0572	M	0.75447	2.3	0.20489	N	0.999894	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.95;0.977	T	0.06250	-1.0837	9	0.32370	T	0.25	.	7.8021	0.29180	0.1859:0.0:0.0:0.8141	.	58;91;101	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	P	101;91;91;91;58	ENSP00000347916:L101P;ENSP00000379764:L91P;ENSP00000302804:L91P;ENSP00000405244:L91P;ENSP00000345448:L58P	ENSP00000302804:L91P	L	+	2	0	CLEC12A	10023283	0.001000	0.12720	0.003000	0.11579	0.040000	0.13550	0.824000	0.27379	0.830000	0.34757	0.528000	0.53228	CTA		0.348	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		C	10132016	T	C	10132016	3	2	420	1	0	0	0	0	1	0	0	0	3499	1522	53	3	282	3	CLEC12A	12	10132016	Missense_Mutation	SNP	T	TCGA-BP-5168-01A-01D-1421-08	3045625	10132016	123719879	80	22936											
CLEC12A	160364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10132045	10132045	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:10132045A>T	ENST00000304361.4	+	3	483	c.301A>T	c.(301-303)Aac>Tac	p.N101Y	CLEC12A_ENST00000434319.2_Missense_Mutation_p.N101Y|CLEC12A_ENST00000350667.4_Missense_Mutation_p.N68Y|CLEC12A_ENST00000355690.4_Missense_Mutation_p.N111Y	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.N101Y(1)|p.N111Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						GAATATCTCCAACAAGATCAG	0.358																																					Melanoma(197;1487 2125 16611 22221 34855)											2	Substitution - Missense(2)	kidney(2)											83	75	78					12																	10132045		2203	4300	6503	SO:0001583	missense	160364			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.301A>T	12.37:g.10132045A>T	ENSP00000302804:p.Asn101Tyr		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775678	0.49786	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	4.41	-8.82	0.00810	C-type lectin-like (1);	.	.	.	.	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	D;D;D	0.57899	0.981;0.968;0.981	P;B;P	0.48454	0.578;0.374;0.578	T	0.46638	-0.9177	9	0.54805	T	0.06	.	9.1077	0.36707	0.5304:0.3697:0.0999:0.0	.	68;101;111	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	Y	111;101;101;101;68	ENSP00000347916:N111Y;ENSP00000379764:N101Y;ENSP00000302804:N101Y;ENSP00000405244:N101Y;ENSP00000345448:N68Y	ENSP00000302804:N101Y	N	+	1	0	CLEC12A	10023312	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	-2.591000	0.00899	-2.899000	0.00312	0.528000	0.53228	AAC		0.358	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		T	10132045	A	T	10132045	3	4	420	1	0	0	0	0	1	0	0	0	3499	130	5	5	311	5	CLEC12A	12	10132045	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	29	10132045	123719850	81	22937											
ATF7IP	55729	hgsc.bcm.edu;ucsc.edu	37	12	14650805	14650805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:14650805delA	ENST00000540793.1	+	14	3766	c.3611delA	c.(3610-3612)gaafs	p.E1204fs	ATF7IP_ENST00000544627.1_Frame_Shift_Del_p.E1212fs|ATF7IP_ENST00000261168.4_Frame_Shift_Del_p.E1204fs|ATF7IP_ENST00000536444.1_Frame_Shift_Del_p.E1203fs			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1204	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Interaction with MBD1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TACCATGAGGAACCCAGTGCC	0.498																																																0													186	140	156					12																	14650805		2203	4300	6503	SO:0001589	frameshift_variant	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3611delA	12.37:g.14650805delA	ENSP00000444589:p.Glu1204fs		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Frame_Shift_Del	DEL	ENST00000540793.1	37	CCDS8663.1																																																																																				0.498	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		-	14650805	A	-	14650805	7	5	420	1	0	1	0	1	0	0	0	0	1087	246	9	0	3665	0	ATF7IP	12	14650805	Frame_Shift_Del	DEL	A	TCGA-BP-5168-01A-01D-1421-08	4518760	14650805	119201090	82	22938											
H3F3C	440093	broad.mit.edu;hgsc.bcm.edu	37	12	31944927	31944927	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:31944927G>A	ENST00000340398.3	-	1	248	c.174C>T	c.(172-174)acC>acT	p.T58T		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	58					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)	p.T58T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TGAGCAGCTCGGTCGACTTCT	0.607										HNSCC(67;0.2)																																						1	Substitution - coding silent(1)	kidney(1)											79	73	75					12																	31944927		2203	4298	6501	SO:0001819	synonymous_variant	440093			BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"Histones / Replication-independent"	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.174C>T	12.37:g.31944927G>A			E9P281	Silent	SNP	ENST00000340398.3	37	CCDS31769.1																																																																																				0.607	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		A	31944927	G	A	31944927	2	1	420	1	0	0	0	0	0	0	0	1	6937	1103	39	1		1	H3F3C	12	31944927	Silent	SNP	G	TCGA-BP-5168-01A-01D-1421-08	17294122	31944927	101906968	83	22939											
SFRS2IP	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46322466	46322466	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:46322466T>A	ENST00000369367.3	-	11	1251	c.1018A>T	c.(1018-1020)Ata>Tta	p.I340L	SCAF11_ENST00000549162.1_Missense_Mutation_p.I148L|SCAF11_ENST00000465950.1_Missense_Mutation_p.I25L|SCAF11_ENST00000419565.2_Missense_Mutation_p.I340L	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	340					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I340L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGTCTGATATTGGGGATCTC	0.458																																																1	Substitution - Missense(1)	kidney(1)											191	189	190					12																	46322466		2203	4300	6503	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1018A>T	12.37:g.46322466T>A	ENSP00000358374:p.Ile340Leu		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	10.69	1.421961	0.25639	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.42900	1.56;2.3;1.56;2.3;0.96	5.92	2.41	0.29592	.	0.594244	0.16140	N	0.227793	T	0.22589	0.0545	N	0.19112	0.55	0.09310	N	1	B;B	0.18968	0.032;0.01	B;B	0.12837	0.008;0.002	T	0.13124	-1.0521	10	0.26408	T	0.33	-1.958	4.2999	0.10920	0.0:0.3094:0.1943:0.4964	.	148;340	F8VXG7;Q99590	.;SCAFB_HUMAN	L	25;340;148;340;280	ENSP00000449812:I25L;ENSP00000358374:I340L;ENSP00000448864:I148L;ENSP00000413036:I340L;ENSP00000446746:I280L	ENSP00000358374:I340L	I	-	1	0	SCAF11	44608733	0.015000	0.18098	0.208000	0.23602	0.680000	0.39746	0.251000	0.18257	0.688000	0.31529	-0.334000	0.08254	ATA		0.458	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		A	46322466	T	A	46322466	3	1	420	1	0	0	0	0	1	0	0	0	14183	1493	52	5	3393	5	SFRS2IP	12	46322466	Missense_Mutation	SNP	T	TCGA-BP-5168-01A-01D-1421-08	14377539	46322466	87529429	84	22940											
LMBR1L	55716	broad.mit.edu	37	12	49496928	49496928	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:49496928A>G	ENST00000267102.8	-	7	919	c.577T>C	c.(577-579)Tat>Cat	p.Y193H	LMBR1L_ENST00000395141.4_Missense_Mutation_p.Y188H|LMBR1L_ENST00000553204.1_5'Flank|LMBR1L_ENST00000547382.1_Missense_Mutation_p.Y193H	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	193					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y193H(1)|p.Y188H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAGGGGAGATAGTACTCCCAA	0.527																																																2	Substitution - Missense(2)	kidney(2)											79	75	76					12																	49496928		2203	4300	6503	SO:0001583	missense	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.577T>C	12.37:g.49496928A>G	ENSP00000267102:p.Tyr193His		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	ENST00000267102.8	37	CCDS8780.2	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428743	0.83667	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141	T;T;T	0.33438	1.41;1.41;1.41	6.06	6.06	0.98353	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.998;0.996;0.999;0.998	T	0.38564	-0.9655	10	0.25106	T	0.35	.	15.5919	0.76537	1.0:0.0:0.0:0.0	.	191;193;193;193;188	Q6UX01-2;Q6UX01-5;Q6UX01-3;Q6UX01;Q6UX01-4	.;.;.;LMBRL_HUMAN;.	H	193;193;188	ENSP00000267102:Y193H;ENSP00000447329:Y193H;ENSP00000378573:Y188H	ENSP00000267102:Y193H	Y	-	1	0	LMBR1L	47783195	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.090000	0.94144	2.324000	0.78689	0.533000	0.62120	TAT		0.527	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		G	49496928	A	G	49496928	3	3	420	1	0	0	0	0	1	0	0	0	8843	420	15	3	936	3	LMBR1L	12	49496928	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	3174462	49496928	84354967	85	22941											
SUOX	6821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56396036	56396036	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:56396036A>G	ENST00000394109.3	+	1	755	c.31A>G	c.(31-33)Agg>Ggg	p.R11G	SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.R11G|SUOX_ENST00000551841.2_Missense_Mutation_p.R11G|SUOX_ENST00000394115.2_Missense_Mutation_p.R11G|SUOX_ENST00000548274.1_Missense_Mutation_p.R11G|SUOX_ENST00000266971.3_Missense_Mutation_p.R11G			P51687	SUOX_HUMAN	sulfite oxidase	11					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)	p.R11G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TGTGGTCCTCAGGCTCCAACA	0.542																																																1	Substitution - Missense(1)	kidney(1)											84	77	79					12																	56396036		2203	4300	6503	SO:0001583	missense	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.31A>G	12.37:g.56396036A>G	ENSP00000377668:p.Arg11Gly			Missense_Mutation	SNP	ENST00000394109.3	37	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	A	10.53	1.375644	0.24857	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000547586;ENST00000552258;ENST00000548274;ENST00000546833;ENST00000551841;ENST00000394109	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	4.41	0.322	0.15888	.	1.256650	0.05702	N	0.594292	T	0.75867	0.3908	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62807	-0.6776	10	0.19590	T	0.45	-1.5852	4.4705	0.11710	0.2859:0.1797:0.5344:0.0	.	11;11	F8VRK9;P51687	.;SUOX_HUMAN	G	11	ENSP00000348440:R11G;ENSP00000266971:R11G;ENSP00000377674:R11G;ENSP00000450245:R11G;ENSP00000377668:R11G	ENSP00000266971:R11G	R	+	1	2	SUOX	54682303	0.001000	0.12720	0.000000	0.03702	0.665000	0.39181	0.701000	0.25616	-0.039000	0.13602	-0.353000	0.07706	AGG		0.542	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		G	56396036	A	G	56396036	3	3	420	1	0	0	0	0	1	0	0	0	15400	179	7	3	33	3	SUOX	12	56396036	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	6899108	56396036	77455859	86	22942											
TRHDE	29953	broad.mit.edu;ucsc.edu	37	12	72956769	72956769	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:72956769T>A	ENST00000261180.4	+	9	1952	c.1856T>A	c.(1855-1857)tTt>tAt	p.F619Y	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	619					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F619Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAACAGCATTTTATCTATGAT	0.318																																																1	Substitution - Missense(1)	kidney(1)											87	93	91					12																	72956769		2203	4295	6498	SO:0001583	missense	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1856T>A	12.37:g.72956769T>A	ENSP00000261180:p.Phe619Tyr		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	32	5.144281	0.94603	.	.	ENSG00000072657	ENST00000261180	T	0.02158	4.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.00157	-1.1977	10	0.56958	D	0.05	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	619	Q9UKU6	TRHDE_HUMAN	Y	619	ENSP00000261180:F619Y	ENSP00000261180:F619Y	F	+	2	0	TRHDE	71243036	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.306000	0.72810	2.371000	0.80710	0.533000	0.62120	TTT		0.318	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		A	72956769	T	A	72956769	3	1	420	1	0	0	0	0	1	0	0	0	16484	1841	64	5	1890	5	TRHDE	12	72956769	Missense_Mutation	SNP	T	TCGA-BP-5168-01A-01D-1421-08	16560733	72956769	60895126	87	22943											
MYBPC1	4604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	102067221	102067221	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:102067221A>T	ENST00000550270.1	+	24	2609	c.2609A>T	c.(2608-2610)gAa>gTa	p.E870V	MYBPC1_ENST00000545503.2_Missense_Mutation_p.E852V|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E833V|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E753V|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E870V|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E877V|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E826V|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E877V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E852V|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E840V|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E839V|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E838V|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E870V|MYBPC1_ENST00000549145.1_Missense_Mutation_p.E883V|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E870V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	870	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E870V(1)|p.E877V(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCAAGACCAGAATTAACTTGG	0.358																																																2	Substitution - Missense(2)	kidney(2)											107	113	111					12																	102067221		2203	4300	6503	SO:0001583	missense	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2609A>T	12.37:g.102067221A>T	ENSP00000449702:p.Glu870Val		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312513	0.40895	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123330	0.36234	N	0.002711	T	0.54838	0.1883	N	0.02665	-0.54	0.48087	D	0.99958	B;P;B;B;B;B;P;P;B;B	0.39044	0.018;0.656;0.001;0.008;0.325;0.014;0.454;0.65;0.002;0.007	B;P;B;B;B;B;P;P;B;B	0.51550	0.039;0.609;0.012;0.02;0.342;0.032;0.474;0.673;0.007;0.026	T	0.60337	-0.7283	10	0.20519	T	0.43	.	16.0506	0.80760	1.0:0.0:0.0:0.0	.	833;840;870;852;839;826;852;870;877;877	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	V	826;870;870;870;839;838;877;883;852;852;833;840;877;753;870	ENSP00000448175:E826V;ENSP00000400908:E870V;ENSP00000388989:E870V;ENSP00000353822:E870V;ENSP00000376665:E839V;ENSP00000447362:E838V;ENSP00000354845:E877V;ENSP00000447660:E883V;ENSP00000447900:E852V;ENSP00000440034:E852V;ENSP00000446128:E833V;ENSP00000442847:E840V;ENSP00000354849:E877V;ENSP00000447116:E753V;ENSP00000449702:E870V	ENSP00000353822:E870V	E	+	2	0	MYBPC1	100591352	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.065000	0.76727	2.189000	0.69895	0.454000	0.30748	GAA		0.358	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			T	102067221	A	T	102067221	3	4	420	1	0	0	0	0	1	0	0	0	10013	246	9	5	2786	5	MYBPC1	12	102067221	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	29110452	102067221	31784674	88	22944											
ACAD10	80724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112167663	112167663	+	Nonsense_Mutation	SNP	G	G	T	rs200769692	byFrequency	TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:112167663G>T	ENST00000313698.4	+	10	1452	c.1297G>T	c.(1297-1299)Gaa>Taa	p.E433*	ACAD10_ENST00000455480.2_Nonsense_Mutation_p.E464*|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Nonsense_Mutation_p.E433*|ACAD10_ENST00000392636.2_Nonsense_Mutation_p.E35*	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	433						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.E433*(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TCGAGCTTCCGAAACTAGCAC	0.542																																																1	Substitution - Nonsense(1)	kidney(1)											85	75	78					12																	112167663		2203	4300	6503	SO:0001587	stop_gained	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1297G>T	12.37:g.112167663G>T	ENSP00000325137:p.Glu433*		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Nonsense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	42	9.800932	0.99267	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698	.	.	.	5.37	5.37	0.77165	.	0.112601	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	18.6848	0.91559	0.0:0.0:1.0:0.0	.	.	.	.	X	35;433;433;464;433	.	ENSP00000325137:E433X	E	+	1	0	ACAD10	110652046	1.000000	0.71417	0.751000	0.31187	0.067000	0.16453	7.073000	0.76784	2.499000	0.84300	0.655000	0.94253	GAA		0.542	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		T	112167663	G	T	112167663	4	4	420	1	0	0	0	0	0	1	0	0	108	1059	37	4	1428	4	ACAD10	12	112167663	Nonsense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	10100442	112167663	21684232	89	22945											
RPH3A	22895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113285641	113285641	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:113285641G>A	ENST00000389385.4	+	5	721	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	RPH3A_ENST00000551052.1_Missense_Mutation_p.R71Q|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000415485.3_Missense_Mutation_p.R75Q|RPH3A_ENST00000420983.2_Missense_Mutation_p.R75Q|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000543106.2_Missense_Mutation_p.R75Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	75	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.R71Q(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GAGCAGGAGCGAATCGGGTGA	0.562																																																1	Substitution - Missense(1)	kidney(1)											78	62	68					12																	113285641		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.224G>A	12.37:g.113285641G>A	ENSP00000374036:p.Arg75Gln		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309726	0.95629	.	.	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000420983	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.07	5.07	0.68467	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.56097	D	0.000021	D	0.93792	0.8015	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93909	0.7195	9	.	.	.	.	17.5808	0.87968	0.0:0.0:1.0:0.0	.	75;75;71	B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	Q	75;75;75;75;75;75;75;75;75;75;75;8;75;71;75;75;75	ENSP00000446570:R75Q;ENSP00000449705:R75Q;ENSP00000440384:R75Q;ENSP00000446780:R75Q;ENSP00000447306:R75Q;ENSP00000446556:R75Q;ENSP00000450382:R75Q;ENSP00000449613:R75Q;ENSP00000447505:R75Q;ENSP00000449650:R75Q;ENSP00000374036:R75Q;ENSP00000448100:R8Q;ENSP00000447083:R75Q;ENSP00000448297:R71Q;ENSP00000405357:R75Q;ENSP00000450216:R75Q;ENSP00000408889:R75Q	.	R	+	2	0	RPH3A	111770024	1.000000	0.71417	0.939000	0.37840	0.969000	0.65631	8.797000	0.91882	2.492000	0.84095	0.655000	0.94253	CGA		0.562	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		A	113285641	G	A	113285641	3	1	420	1	0	0	0	0	1	0	0	0	13557	1058	37	1	234	1	RPH3A	12	113285641	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	1117978	113285641	20566254	90	22946											
CLIP1	6249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122826194	122826194	+	Silent	SNP	T	T	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:122826194T>G	ENST00000540338.1	-	10	1598	c.1557A>C	c.(1555-1557)ctA>ctC	p.L519L	CLIP1_ENST00000361654.4_Silent_p.L473L|CLIP1_ENST00000545889.1_Silent_p.L209L|CLIP1_ENST00000537178.1_Silent_p.L473L|CLIP1_ENST00000302528.7_Silent_p.L508L|CLIP1_ENST00000358808.2_Silent_p.L508L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	519					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.L508L(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTCTCAATGCTAGGTCTTTCT	0.408																																																1	Substitution - coding silent(1)	kidney(1)											128	130	129					12																	122826194		2203	4300	6503	SO:0001819	synonymous_variant	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1557A>C	12.37:g.122826194T>G			A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	CCDS58285.1																																																																																				0.408	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		G	122826194	T	G	122826194	2	3	420	1	0	0	0	0	0	0	0	1	3534	1509	53	5		5	CLIP1	12	122826194	Silent	SNP	T	TCGA-BP-5168-01A-01D-1421-08	9540553	122826194	11025701	91	22947											
FAM101A	144347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124798830	124798830	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:124798830C>T	ENST00000389727.3	+	3	410	c.410C>T	c.(409-411)aCc>aTc	p.T137I	FAM101A_ENST00000324038.3_Missense_Mutation_p.T56I|FAM101A_ENST00000546355.1_Missense_Mutation_p.T56I|FAM101A_ENST00000338359.4_Missense_Mutation_p.T56I			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	137								p.T56I(1)		endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		TACAGCGAGACCATCGTGGCA	0.632																																																1	Substitution - Missense(1)	kidney(1)											104	91	95					12																	124798830		2203	4300	6503	SO:0001583	missense	144347				CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.410C>T	12.37:g.124798830C>T	ENSP00000374377:p.Thr137Ile		A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37		.	.	.	.	.	.	.	.	.	.	C	18.11	3.551183	0.65311	.	.	ENSG00000178882	ENST00000324038;ENST00000541200;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84257	0.0481	9	0.87932	D	0	-0.6572	17.6136	0.88061	0.0:1.0:0.0:0.0	.	137	Q6ZTI6	F101A_HUMAN	I	56;56;137;56;56	.	ENSP00000315626:T56I	T	+	2	0	FAM101A	123364783	1.000000	0.71417	0.977000	0.42913	0.084000	0.17831	7.361000	0.79497	2.148000	0.66965	0.555000	0.69702	ACC		0.632	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		T	124798830	C	T	124798830	3	4	420	1	0	0	0	0	1	0	0	0	5382	507	18	2	173	2	FAM101A	12	124798830	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	1972636	124798830	9053065	92	22948											
SACS	26278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	23909182	23909182	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr13:23909182G>T	ENST00000382292.3	-	9	9106	c.8833C>A	c.(8833-8835)Cag>Aag	p.Q2945K	SACS_ENST00000382298.3_Missense_Mutation_p.Q2945K|SACS_ENST00000402364.1_Missense_Mutation_p.Q2195K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2945					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.Q2798K(1)|p.Q2945K(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGGTGTTCTGTAACACTGAT	0.348																																																2	Substitution - Missense(2)	kidney(2)											108	108	108					13																	23909182		2203	4300	6503	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8833C>A	13.37:g.23909182G>T	ENSP00000371729:p.Gln2945Lys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841921	0.91197	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87103	-2.06;-2.21;-2.06	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.85168	0.5635	L	0.46157	1.445	0.49130	D	0.999757	D	0.54207	0.965	B	0.43990	0.438	T	0.82540	-0.0406	10	0.19590	T	0.45	.	19.7024	0.96060	0.0:0.0:1.0:0.0	.	2945	Q9NZJ4	SACS_HUMAN	K	2945;2195;2945	ENSP00000371729:Q2945K;ENSP00000385844:Q2195K;ENSP00000371735:Q2945K	ENSP00000371729:Q2945K	Q	-	1	0	SACS	22807182	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.476000	0.97823	2.653000	0.90120	0.555000	0.69702	CAG		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		T	23909182	G	T	23909182	3	4	420	1	0	0	0	0	1	0	0	0	13810	1386	48	4	4910	4	SACS	13	23909182	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08		23909182	91260696	93	22949											
COL4A1	1282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	110835582	110835582	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr13:110835582G>A	ENST00000375820.4	-	27	2060	c.1939C>T	c.(1939-1941)Ccc>Tcc	p.P647S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	647	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P647S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCTCCAGGGGGGCCTGGTAAA	0.537																																																1	Substitution - Missense(1)	kidney(1)											26	27	27					13																	110835582		2203	4300	6503	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1939C>T	13.37:g.110835582G>A	ENSP00000364979:p.Pro647Ser		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	8.441	0.850762	0.17034	.	.	ENSG00000187498	ENST00000375820	D	0.98649	-5.05	4.17	4.17	0.49024	.	0.119516	0.56097	D	0.000021	D	0.97626	0.9222	L	0.45422	1.42	0.80722	D	1	D	0.65815	0.995	P	0.59012	0.85	D	0.96304	0.9223	10	0.07030	T	0.85	.	12.9944	0.58638	0.0:0.0:0.8382:0.1618	.	647	P02462	CO4A1_HUMAN	S	647	ENSP00000364979:P647S	ENSP00000364979:P647S	P	-	1	0	COL4A1	109633583	1.000000	0.71417	0.827000	0.32855	0.118000	0.20060	6.192000	0.72069	2.328000	0.79073	0.561000	0.74099	CCC		0.537	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			A	110835582	G	A	110835582	3	1	420	1	0	0	0	0	1	0	0	0	3691	1232	43	2	3174	2	COL4A1	13	110835582	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	86926400	110835582	4334296	94	22950											
TUBGCP3	10426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	113242269	113242269	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr13:113242269G>A	ENST00000261965.3	-	1	212	c.26C>T	c.(25-27)cCg>cTg	p.P9L	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.P9L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	9					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.P9L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAGAACGTTCGGCGACTTCTG	0.736																																																1	Substitution - Missense(1)	kidney(1)											29	28	29					13																	113242269		2203	4299	6502	SO:0001583	missense	10426			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.26C>T	13.37:g.113242269G>A	ENSP00000261965:p.Pro9Leu		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	g	34	5.376285	0.95945	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.37584	1.24;1.19	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.91635	0.874;0.999;0.999;0.999	T	0.67814	-0.5573	10	0.72032	D	0.01	-26.4943	17.023	0.86439	0.0:0.0:1.0:0.0	.	9;9;9;9	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	L	9	ENSP00000261965:P9L;ENSP00000364821:P9L	ENSP00000261965:P9L	P	-	2	0	TUBGCP3	112290270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.001000	0.58596	0.479000	0.44913	CCG		0.736	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		A	113242269	G	A	113242269	3	1	420	1	0	0	0	0	1	0	0	0	16772	1116	39	1	2785	1	TUBGCP3	13	113242269	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	2406687	113242269	1927609	95	22951											
DHRS4L2	317749	broad.mit.edu;hgsc.bcm.edu	37	14	24459472	24459472	+	Silent	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr14:24459472C>T	ENST00000335125.6	+	2	336	c.210C>T	c.(208-210)gaC>gaT	p.D70D	DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000397071.1_Silent_p.D70D|DHRS4L2_ENST00000382755.4_Silent_p.D68D|DHRS4L2_ENST00000537912.1_Silent_p.D70D|DHRS4L2_ENST00000545240.1_Silent_p.D70D|DHRS4L2_ENST00000558753.1_Silent_p.D70D	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	68						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.D70D(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		AGAATGTGGACCAGGCGGTGG	0.677																																																1	Substitution - coding silent(1)	kidney(1)											42	46	45					14																	24459472		2202	4299	6501	SO:0001819	synonymous_variant	317749				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.210C>T	14.37:g.24459472C>T			Q3YLD4	Silent	SNP	ENST00000335125.6	37	CCDS9606.2																																																																																				0.677	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			T	24459472	C	T	24459472	2	4	420	1	0	0	0	0	0	0	0	1	4496	506	18	2		2	DHRS4L2	14	24459472	Silent	SNP	C	TCGA-BP-5168-01A-01D-1421-08		24459472	82890068	96	22952											
RABGGTA	5875	hgsc.bcm.edu;ucsc.edu	37	14	24740082	24740084	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr14:24740082_24740084delCAG	ENST00000399409.3	-	2	556_558	c.73_75delCTG	c.(73-75)ctgdel	p.L25del	RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000560777.1_5'Flank|RABGGTA_ENST00000216840.6_In_Frame_Del_p.L25del	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	25					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGTATAGCTTCAGCTTCTGCTCT	0.576																																																0																																										SO:0001651	inframe_deletion	5875				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"Prenyltransferase alpha subunit repeat containing"	9795	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 3"	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.73_75delCTG	14.37:g.24740082_24740084delCAG	ENSP00000382341:p.Leu25del		A8K5N2|D3DS69	In_Frame_Del	DEL	ENST00000399409.3	37	CCDS45088.1																																																																																				0.576	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		-	24740084	CAG	-	24740082	7	5	420	1	0	1	0	1	0	0	0	0	12973	813	29	0	1688	0	RABGGTA	14	24740082	In_Frame_Del	DEL	CAG	TCGA-BP-5168-01A-01D-1421-08	280610	24740082	82609458	97	22953											
NID2	22795	broad.mit.edu;hgsc.bcm.edu	37	14	52534720	52534720	+	Silent	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr14:52534720G>C	ENST00000216286.5	-	2	389	c.390C>G	c.(388-390)ccC>ccG	p.P130P	NID2_ENST00000541773.1_Silent_p.P77P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	130	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.P130P(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCAGCACTGCGGGGGAGGTGT	0.682																																																1	Substitution - coding silent(1)	kidney(1)											28	33	31					14																	52534720		2202	4300	6502	SO:0001819	synonymous_variant	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.390C>G	14.37:g.52534720G>C			A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	CCDS9706.1																																																																																				0.682	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			C	52534720	G	C	52534720	2	2	420	1	0	0	0	0	0	0	0	1	10417	1103	39	4		4	NID2	14	52534720	Silent	SNP	G	TCGA-BP-5168-01A-01D-1421-08	27794638	52534720	54814820	98	22954											
PACS2	23241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	105843253	105843253	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr14:105843253C>G	ENST00000325438.8	+	9	1454	c.950C>G	c.(949-951)cCg>cGg	p.P317R	PACS2_ENST00000447393.1_Missense_Mutation_p.P317R|PACS2_ENST00000430725.2_Missense_Mutation_p.P242R|PACS2_ENST00000458164.2_Missense_Mutation_p.P317R|PACS2_ENST00000547217.1_Missense_Mutation_p.P287R			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	317					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)		p.P317R(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACCCCCAAGCCGAAGCTGCGG	0.662																																																1	Substitution - Missense(1)	kidney(1)											49	49	49					14																	105843253		2202	4300	6502	SO:0001583	missense	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.950C>G	14.37:g.105843253C>G	ENSP00000321834:p.Pro317Arg		A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011072	0.54361	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.8	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.996	T	0.40942	-0.9536	10	0.87932	D	0	-16.708	11.6847	0.51479	0.0:0.912:0.0:0.088	.	317;317;317;318	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	R	242;317;317;317;287	ENSP00000393524:P242R;ENSP00000321834:P317R;ENSP00000399732:P317R;ENSP00000393559:P317R;ENSP00000449525:P287R	ENSP00000321834:P317R	P	+	2	0	PACS2	104914298	1.000000	0.71417	0.881000	0.34555	0.177000	0.22998	7.657000	0.83745	1.010000	0.39314	0.467000	0.42956	CCG		0.662	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		G	105843253	C	G	105843253	3	3	420	1	0	0	0	0	1	0	0	0	11375	652	23	4	984	4	PACS2	14	105843253	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	53308533	105843253	1506287	99	22955											
CCNDBP1	23582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43482264	43482264	+	Silent	SNP	A	A	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr15:43482264A>C	ENST00000300213.4	+	5	585	c.343A>C	c.(343-345)Aga>Cga	p.R115R	CCNDBP1_ENST00000356633.5_Intron|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	115	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R115R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GATCACCCTGAGAAAGCTGGT	0.507																																																1	Substitution - coding silent(1)	kidney(1)											73	66	69					15																	43482264		2203	4299	6502	SO:0001819	synonymous_variant	23582			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"D-type cyclin-interacting protein 1", "MAID protein", "HHM Protein", "grap2 cyclin interacting protein"	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.343A>C	15.37:g.43482264A>C			A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Silent	SNP	ENST00000300213.4	37	CCDS10092.1																																																																																				0.507	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142		C	43482264	A	C	43482264	2	2	420	1	0	0	0	0	0	0	0	1	2921	296	11	5		5	CCNDBP1	15	43482264	Silent	SNP	A	TCGA-BP-5168-01A-01D-1421-08		43482264	59049128	100	22956											
MYO5C	55930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52521378	52521378	+	Silent	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr15:52521378A>T	ENST00000261839.7	-	25	3320	c.3159T>A	c.(3157-3159)acT>acA	p.T1053T		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1053						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T1053T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGCCATCAGAAGTGACGTGCT	0.517																																																1	Substitution - coding silent(1)	kidney(1)											131	130	131					15																	52521378		1933	4121	6054	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3159T>A	15.37:g.52521378A>T			Q6P1W8	Silent	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.517	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		T	52521378	A	T	52521378	2	4	420	1	0	0	0	0	0	0	0	1	10082	59	3	5		5	MYO5C	15	52521378	Silent	SNP	A	TCGA-BP-5168-01A-01D-1421-08	9039114	52521378	50010014	101	22957											
LACTB	114294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63419762	63419762	+	Silent	SNP	C	C	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr15:63419762C>A	ENST00000261893.4	+	4	898	c.826C>A	c.(826-828)Cgg>Agg	p.R276R	LACTB_ENST00000413507.2_Silent_p.R276R|RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	276						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.R276R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AGCCAAATGCCGGAATTCAAA	0.303																																					Melanoma(85;443 1381 6215 27308 35583)											1	Substitution - coding silent(1)	kidney(1)											39	43	42					15																	63419762		2197	4298	6495	SO:0001819	synonymous_variant	114294			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.826C>A	15.37:g.63419762C>A			P83096	Silent	SNP	ENST00000261893.4	37	CCDS10182.1																																																																																				0.303	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		A	63419762	C	A	63419762	2	1	420	1	0	0	0	0	0	0	0	1	8599	643	23	4		4	LACTB	15	63419762	Silent	SNP	C	TCGA-BP-5168-01A-01D-1421-08	10898384	63419762	39111630	102	22958											
ABCC1	4363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	16149977	16149977	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr16:16149977G>A	ENST00000399410.3	+	12	1677	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	ABCC1_ENST00000349029.5_Missense_Mutation_p.R501Q|ABCC1_ENST00000351154.5_Missense_Mutation_p.R501Q|ABCC1_ENST00000345148.5_Missense_Mutation_p.R501Q|ABCC1_ENST00000399408.2_Missense_Mutation_p.R501Q|ABCC1_ENST00000346370.5_Missense_Mutation_p.R501Q	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	501	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R501Q(2)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AAAGACAATCGGATCAAGCTG	0.522																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											105	104	104					16																	16149977		2007	4182	6189	SO:0001583	missense	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1502G>A	16.37:g.16149977G>A	ENSP00000382342:p.Arg501Gln		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424589	0.96111	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	H	0.94582	3.555	0.54753	D	0.999981	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	0.997;0.996;1.0;0.999;0.996;0.999;0.999	D	0.97842	1.0269	10	0.87932	D	0	-30.289	18.0003	0.89196	0.0:0.0:1.0:0.0	.	501;501;501;501;501;501;501	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	Q	501;501;501;501;501;501;175	ENSP00000382342:R501Q;ENSP00000382340:R501Q;ENSP00000263019:R501Q;ENSP00000263017:R501Q;ENSP00000263014:R501Q;ENSP00000263016:R501Q	ENSP00000263014:R501Q	R	+	2	0	ABCC1	16057478	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.426000	0.97469	2.479000	0.83701	0.561000	0.74099	CGG		0.522	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		A	16149977	G	A	16149977	3	1	420	1	0	0	0	0	1	0	0	0	49	1116	39	1	1548	1	ABCC1	16	16149977	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08		16149977	74204776	103	22959											
GTF3C1	2975	hgsc.bcm.edu;ucsc.edu	37	16	27500985	27500986	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr16:27500985_27500986insT	ENST00000356183.4	-	20	3245_3246	c.3230_3231insA	c.(3229-3231)gagfs	p.E1077fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.E1077fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1077					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGCTCTCCTGCTCCTTCTGCAG	0.653																																																0																																										SO:0001589	frameshift_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3231dupA	16.37:g.27500986_27500986dupT	ENSP00000348510:p.Glu1077fs		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Ins	INS	ENST00000356183.4	37	CCDS32414.1																																																																																				0.653	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		T	27500986	-	T	27500985	7	5	420	1	0	1	1	0	0	0	0	0	6874	796	28	0	3170	0	GTF3C1	16	27500985	Frame_Shift_Ins	INS	-	TCGA-BP-5168-01A-01D-1421-08	11351008	27500985	62853768	104	22960											
EDC4	23644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67912713	67912713	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr16:67912713T>C	ENST00000358933.5	+	11	1497	c.1258T>C	c.(1258-1260)Tac>Cac	p.Y420H	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	420					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Y420H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTCAGCAGAATACCTGATTCT	0.557																																																1	Substitution - Missense(1)	kidney(1)											124	130	128					16																	67912713		2198	4300	6498	SO:0001583	missense	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1258T>C	16.37:g.67912713T>C	ENSP00000351811:p.Tyr420His		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034917	0.75617	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.07021	3.23	6.17	6.17	0.99709	.	0.117339	0.64402	D	0.000011	T	0.20780	0.0500	L	0.47190	1.495	0.48040	D	0.999573	D;D;D	0.71674	0.998;0.983;0.996	P;P;P	0.62014	0.897;0.773;0.853	T	0.00380	-1.1776	10	0.34782	T	0.22	-11.138	16.4837	0.84171	0.0:0.0:0.0:1.0	.	352;39;420	B7Z7V8;Q6P2E9-2;Q6P2E9	.;.;EDC4_HUMAN	H	420;352	ENSP00000351811:Y420H	ENSP00000351811:Y420H	Y	+	1	0	EDC4	66470214	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	7.662000	0.83803	2.371000	0.80710	0.533000	0.62120	TAC		0.557	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		C	67912713	T	C	67912713	3	2	420	1	0	0	0	0	1	0	0	0	4910	1406	49	3	1300	3	EDC4	16	67912713	Missense_Mutation	SNP	T	TCGA-BP-5168-01A-01D-1421-08	40411728	67912713	22442040	105	22961											
WDR81	124997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1634217	1634217	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr17:1634217A>T	ENST00000409644.1	+	3	3944	c.3944A>T	c.(3943-3945)tAc>tTc	p.Y1315F	WDR81_ENST00000437219.2_Missense_Mutation_p.Y112F|WDR81_ENST00000419248.1_Missense_Mutation_p.Y88F|WDR81_ENST00000309182.5_Missense_Mutation_p.Y264F|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000545662.1_Missense_Mutation_p.T10S	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1315					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.Y1315F(1)|p.Y264F(1)|p.Y112F(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCTACCAGTACCTGCCCTAC	0.667																																																3	Substitution - Missense(3)	kidney(3)											66	66	66					17																	1634217		2203	4300	6503	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3944A>T	17.37:g.1634217A>T	ENSP00000386609:p.Tyr1315Phe		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.652831|5.652831	0.96724|0.96724	.|.	.|.	ENSG00000167716|ENSG00000167716	ENST00000545662|ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644;ENST00000354680	T|T;T;T;T	0.53640|0.73152	0.61|1.11;0.95;1.17;-0.72	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83815|0.83815	0.5336|0.5336	M|M	0.75085|0.75085	2.285|2.285	0.31991|0.31991	N|N	0.604627|0.604627	P|D;D;D	0.52692|0.76494	0.955|0.999;0.997;0.999	P|D;D;D	0.48952|0.80764	0.596|0.991;0.985;0.994	D|D	0.87195|0.87195	0.2237|0.2237	9|10	0.02654|0.72032	T|D	1|0.01	.|.	16.1864|16.1864	0.81955|0.81955	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	10|112;442;264	B7Z6V3|B7Z579;Q8TEL1;Q562E7	.|.;.;WDR81_HUMAN	S|F	10|112;112;264;88;1315;66	ENSP00000442726:T10S|ENSP00000391074:Y112F;ENSP00000312074:Y264F;ENSP00000407845:Y88F;ENSP00000386609:Y1315F	ENSP00000442726:T10S|ENSP00000312074:Y264F	T|Y	+|+	1|2	0|0	WDR81|WDR81	1580967|1580967	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.193000|9.193000	0.94954|0.94954	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	ACC|TAC		0.667	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		T	1634217	A	T	1634217	3	4	420	1	0	0	0	0	1	0	0	0	17335	391	14	5	4016	5	WDR81	17	1634217	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08		1634217	79560993	106	22962											
BLMH	642	hgsc.bcm.edu;ucsc.edu	37	17	28599644	28599655	+	Splice_Site	DEL	AGCCTAGAAACA	AGCCTAGAAACA	-	rs576860161	byFrequency	TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	AGCCTAGAAACA	AGCCTAGAAACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr17:28599644_28599655delAGCCTAGAAACA	ENST00000261714.6	-	9	1135_1137	c.961_963delTGTTTCTAGGCT	c.(961-963)tgtdel	p.C321del	BLMH_ENST00000394819.3_Splice_Site_p.C234del|BLMH_ENST00000582669.1_5'Flank	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	321					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	CAAACCACACAGCCTAGAAACAGAAGAAAGAG	0.382																																					Pancreas(127;628 1772 12912 33293 36203)											0																																										SO:0001630	splice_region_variant	642			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.961-1TGTTTCTAGGCT>-	17.37:g.28599644_28599655delAGCCTAGAAACA			B2R796|Q53F86|Q9UER9	Frame_Shift_Del	DEL	ENST00000261714.6	37	CCDS32604.1																																																																																				0.382	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386	In_Frame_Del	-	28599655	AGCCTAGAAACA	-	28599644	8	5	420	1	0	1	0	1	0	0	1	0	1446	175	7	0	420	0	BLMH	17	28599644	Splice_Site	DEL	AGCCTAGAAACA	TCGA-BP-5168-01A-01D-1421-08	26965427	28599644	52595566	107	22963											
SUZ12	23512	hgsc.bcm.edu	37	17	30310087	30310088	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr17:30310087_30310088insA	ENST00000322652.5	+	9	1216_1217	c.987_988insA	c.(988-990)aaafs	p.K330fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.K307fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	330					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAATAAGCAAGAAAAGAGCAAC	0.381			T	JAZF1	endometrial stromal tumours																																		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0																																										SO:0001589	frameshift_variant	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.991dupA	17.37:g.30310091_30310091dupA	ENSP00000316578:p.Lys330fs		Q96BD9	Frame_Shift_Ins	INS	ENST00000322652.5	37	CCDS11270.1																																																																																				0.381	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		A	30310088	-	A	30310087	7	5	420	1	0	1	1	0	0	0	0	0	15421	933	33	0	1021	0	SUZ12	17	30310087	Frame_Shift_Ins	INS	-	TCGA-BP-5168-01A-01D-1421-08	1710443	30310087	50885123	108	22964											
MSL1	339287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38285875	38285875	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr17:38285875T>A	ENST00000398532.4	+	3	1685	c.1370T>A	c.(1369-1371)gTa>gAa	p.V457E	MSL1_ENST00000579565.1_Missense_Mutation_p.V194E|MSL1_ENST00000577454.1_Missense_Mutation_p.V457E|MSL1_ENST00000578648.1_Missense_Mutation_p.V457E	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	457					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V256E(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAGGAGACTGTAGCAAGTAAG	0.463																																																1	Substitution - Missense(1)	kidney(1)											17	17	17					17																	38285875		1910	4119	6029	SO:0001583	missense	339287				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1370T>A	17.37:g.38285875T>A	ENSP00000381543:p.Val457Glu		Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37		.	.	.	.	.	.	.	.	.	.	T	10.85	1.466345	0.26335	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75921	-0.3147	9	0.87932	D	0	-3.6199	16.2619	0.82550	0.0:0.0:0.0:1.0	.	457	Q68DK7	MSL1_HUMAN	E	194;457	.	ENSP00000341409:V194E	V	+	2	0	MSL1	35539401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	GTA		0.463	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		A	38285875	T	A	38285875	3	1	420	1	0	0	0	0	1	0	0	0	9879	1638	57	5	587	5	MSL1	17	38285875	Missense_Mutation	SNP	T	TCGA-BP-5168-01A-01D-1421-08	7975788	38285875	42909335	109	22965											
NXPH3	11248	hgsc.bcm.edu;ucsc.edu	37	17	47656509	47656509	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr17:47656509delC	ENST00000328741.5	+	2	968	c.606delC	c.(604-606)gacfs	p.D202fs	NXPH3_ENST00000513748.1_Frame_Shift_Del_p.D202fs|RP5-1029K10.4_ENST00000503624.1_RNA	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	202	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					GCTCCCGAGACCACGCTCAGA	0.602																																																0													81	79	80					17																	47656509		2203	4300	6503	SO:0001589	frameshift_variant	11248			AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.606delC	17.37:g.47656509delC	ENSP00000329295:p.Asp202fs		Q8NDC3|Q8TBF6|Q9ULR1	Frame_Shift_Del	DEL	ENST00000328741.5	37	CCDS11550.1																																																																																				0.602	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1			-	47656509	C	-	47656509	7	5	420	1	0	1	0	1	0	0	0	0	10794	506	18	0	612	0	NXPH3	17	47656509	Frame_Shift_Del	DEL	C	TCGA-BP-5168-01A-01D-1421-08	9370634	47656509	33538701	110	22966											
KIAA1543	57662	hgsc.bcm.edu	37	19	7675454	7675455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:7675454_7675455insG	ENST00000160298.4	+	6	954_955	c.853_854insG	c.(853-855)tgcfs	p.C285fs	CAMSAP3_ENST00000446248.2_Frame_Shift_Ins_p.C312fs	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	285	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TCCTCGTGGCTGCCCCCTGTCC	0.649																																																0																																										SO:0001589	frameshift_variant	0			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.854dupG	19.37:g.7675455_7675455dupG	ENSP00000160298:p.Cys285fs		Q8NDF1	Frame_Shift_Ins	INS	ENST00000160298.4	37	CCDS42489.1																																																																																				0.649	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		G	7675455	-	G	7675454	7	5	420	1	0	1	1	0	0	0	0	0	8245	1580	55	0	964	0	KIAA1543	19	7675454	Frame_Shift_Ins	INS	-	TCGA-BP-5168-01A-01D-1421-08		7675454	51453529	111	22967											
ZNF561	93134	broad.mit.edu;hgsc.bcm.edu	37	19	9724746	9724746	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:9724746G>A	ENST00000302851.3	-	5	638	c.275C>T	c.(274-276)tCa>tTa	p.S92L	ZNF561_ENST00000424629.1_Missense_Mutation_p.S23L|ZNF561_ENST00000354661.4_Intron|ZNF561_ENST00000326044.5_Intron|ZNF561_ENST00000495503.1_5'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	92	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S23L(1)|p.S92L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CTGCTGAAGTGATGACCGTTT	0.318																																																2	Substitution - Missense(2)	kidney(2)											131	131	131					19																	9724746		2203	4300	6503	SO:0001583	missense	93134			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"Zinc fingers, C2H2-type", "-"	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.275C>T	19.37:g.9724746G>A	ENSP00000303915:p.Ser92Leu		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	G	7.898	0.733722	0.15574	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000444611	T;T;T	0.08193	3.12;5.79;5.79	1.69	0.528	0.17089	Krueppel-associated box (3);	.	.	.	.	T	0.08980	0.0222	N	0.20357	0.565	0.09310	N	1	D	0.54601	0.967	P	0.60789	0.879	T	0.21690	-1.0238	9	0.08837	T	0.75	.	5.6974	0.17863	0.0:0.3454:0.6546:0.0	.	92	Q8N587	ZN561_HUMAN	L	23;92;98	ENSP00000393074:S23L;ENSP00000303915:S92L;ENSP00000392013:S98L	ENSP00000303915:S92L	S	-	2	0	ZNF561	9585746	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.076000	0.11412	0.234000	0.21139	0.313000	0.20887	TCA		0.318	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		A	9724746	G	A	9724746	3	1	420	1	0	0	0	0	1	0	0	0	17997	1294	45	2	1193	2	ZNF561	19	9724746	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	2049292	9724746	49404237	112	22968											
NFIX	4784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	13192531	13192531	+	Silent	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:13192531C>T	ENST00000592199.1	+	8	1116	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P	NFIX_ENST00000585575.1_Silent_p.P364P|NFIX_ENST00000358552.3_Silent_p.P330P|NFIX_ENST00000588228.1_Silent_p.P325P|NFIX_ENST00000397661.2_Silent_p.P372P|NFIX_ENST00000360105.4_Silent_p.P334P|NFIX_ENST00000587260.1_Silent_p.P371P|NFIX_ENST00000587760.1_Silent_p.P364P			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	372					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P372P(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TGCACTTCCCCTCCACGTCCA	0.637																																																2	Substitution - coding silent(2)	kidney(2)											57	67	64					19																	13192531		2154	4242	6396	SO:0001819	synonymous_variant	4784			U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1116C>T	19.37:g.13192531C>T			B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP	ENST00000592199.1	37																																																																																					0.637	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		T	13192531	C	T	13192531	2	4	420	1	0	0	0	0	0	0	0	1	10376	668	24	2		2	NFIX	19	13192531	Silent	SNP	C	TCGA-BP-5168-01A-01D-1421-08	3467785	13192531	45936452	113	22969											
MAP1S	55201	broad.mit.edu	37	19	17838751	17838751	+	Missense_Mutation	SNP	C	C	A	rs138807804		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:17838751C>A	ENST00000324096.4	+	5	2709	c.2558C>A	c.(2557-2559)gCa>gAa	p.A853E	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A827E|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	853	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.A853E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCCAAGACAGCACGGCAAACG	0.677																																																1	Substitution - Missense(1)	kidney(1)											22	21	22					19																	17838751		2203	4300	6503	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2558C>A	19.37:g.17838751C>A	ENSP00000325313:p.Ala853Glu		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.679944	0.29783	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.24151	1.87;1.87	4.67	2.1	0.27182	.	0.742942	0.11422	N	0.565673	T	0.17238	0.0414	N	0.25647	0.755	0.09310	N	1	P;P	0.42518	0.782;0.782	B;B	0.43701	0.428;0.117	T	0.03335	-1.1047	10	0.05525	T	0.97	-6.0916	9.6911	0.40129	0.0:0.7881:0.0:0.2119	.	827;853	B4DH53;Q66K74	.;MAP1S_HUMAN	E	853;827	ENSP00000325313:A853E;ENSP00000439243:A827E	ENSP00000325313:A853E	A	+	2	0	MAP1S	17699751	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.987000	0.29603	0.949000	0.37715	-0.150000	0.13652	GCA		0.677	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		A	17838751	C	A	17838751	3	1	420	1	0	0	0	0	1	0	0	0	9236	710	25	4	2576	4	MAP1S	19	17838751	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	4646220	17838751	41290232	114	22970											
ZNF492	57615	broad.mit.edu	37	19	22847963	22847963	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:22847963A>T	ENST00000456783.2	+	4	1736	c.1492A>T	c.(1492-1494)Att>Ttt	p.I498F	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I498F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACATAAGATGATTCATACTGG	0.353																																																1	Substitution - Missense(1)	kidney(1)											12	16	15					19																	22847963		1842	4125	5967	SO:0001583	missense	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1492A>T	19.37:g.22847963A>T	ENSP00000413660:p.Ile498Phe		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	7.571	0.666770	0.14710	.	.	ENSG00000229676	ENST00000456783	T	0.07567	3.18	1.06	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21307	0.0513	M	0.76433	2.335	0.27487	N	0.952404	D	0.63046	0.992	D	0.63703	0.917	T	0.06127	-1.0844	9	0.66056	D	0.02	.	5.6717	0.17725	1.0:0.0:0.0:0.0	.	498	Q9P255	ZN492_HUMAN	F	498	ENSP00000413660:I498F	ENSP00000413660:I498F	I	+	1	0	ZNF492	22639803	0.000000	0.05858	0.673000	0.29887	0.706000	0.40770	-0.780000	0.04654	0.129000	0.18514	0.128000	0.15822	ATT		0.353	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		T	22847963	A	T	22847963	3	4	420	1	0	0	0	0	1	0	0	0	17948	333	12	5	1502	5	ZNF492	19	22847963	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	5009212	22847963	36281020	115	22971											
VRK3	51231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50512604	50512604	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:50512604G>C	ENST00000599538.1	-	4	842	c.178C>G	c.(178-180)Cct>Gct	p.P60A	VRK3_ENST00000377011.2_Intron|VRK3_ENST00000594948.1_Missense_Mutation_p.P60A|VRK3_ENST00000594092.1_Missense_Mutation_p.P60A|VRK3_ENST00000593919.1_Missense_Mutation_p.P60A|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000316763.3_Missense_Mutation_p.P60A|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000424804.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	60					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.P60A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		ACTTTCTTAGGAGAGGTTTCA	0.488																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)											1	Substitution - Missense(1)	kidney(1)											148	139	142					19																	50512604		2203	4300	6503	SO:0001583	missense	51231			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.178C>G	19.37:g.50512604G>C	ENSP00000469880:p.Pro60Ala		A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369563	0.24771	.	.	ENSG00000105053	ENST00000316763;ENST00000424804	T	0.29142	1.58	4.54	-0.401	0.12407	.	0.596473	0.18151	N	0.150095	T	0.17365	0.0417	L	0.48362	1.52	0.22330	N	0.999199	P;B;B	0.37061	0.58;0.4;0.278	B;B;B	0.31946	0.138;0.121;0.084	T	0.12016	-1.0564	10	0.22706	T	0.39	-2.7533	2.9407	0.05829	0.381:0.0:0.4245:0.1945	.	60;60;60	E7EMG6;Q8IV63-2;Q8IV63	.;.;VRK3_HUMAN	A	60	ENSP00000324636:P60A	ENSP00000324636:P60A	P	-	1	0	VRK3	55204416	0.243000	0.23878	0.099000	0.21106	0.060000	0.15804	0.166000	0.16583	0.026000	0.15269	0.655000	0.94253	CCT		0.488	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		C	50512604	G	C	50512604	3	2	420	1	0	0	0	0	1	0	0	0	17226	1174	41	4	1290	4	VRK3	19	50512604	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	27664641	50512604	8616379	116	22972											
ZNF677	342926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53740381	53740381	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:53740381G>C	ENST00000598513.1	-	5	1749	c.1599C>G	c.(1597-1599)caC>caG	p.H533Q	ZNF677_ENST00000333952.4_Missense_Mutation_p.H533Q	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H533Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GTATTTTCTGGTGTCTAGTGA	0.318																																																1	Substitution - Missense(1)	kidney(1)											134	127	130					19																	53740381		2203	4299	6502	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1599C>G	19.37:g.53740381G>C	ENSP00000469391:p.His533Gln			Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.836855	0.32421	.	.	ENSG00000197928	ENST00000333952	T	0.77489	-1.1	2.12	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35207	N	0.003365	D	0.86468	0.5940	M	0.92077	3.27	0.23862	N	0.99663	D	0.76494	0.999	P	0.62298	0.9	T	0.77446	-0.2585	10	0.87932	D	0	.	5.5362	0.17013	0.7129:0.0:0.2871:0.0	.	533	Q86XU0	ZN677_HUMAN	Q	533	ENSP00000334394:H533Q	ENSP00000334394:H533Q	H	-	3	2	ZNF677	58432193	0.450000	0.25697	0.391000	0.26233	0.866000	0.49608	0.540000	0.23191	-0.068000	0.12953	-0.332000	0.08345	CAC		0.318	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		C	53740381	G	C	53740381	3	2	420	1	0	0	0	0	1	0	0	0	18089	1252	44	4	159	4	ZNF677	19	53740381	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08	3227777	53740381	5388602	117	22973											
ZCCHC3	85364	hgsc.bcm.edu	37	20	278733	278734	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:278733_278734GC>AT	ENST00000382352.3	+	1	997_998	c.506_507GC>AT	c.(505-507)cGC>cAT	p.R169H		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	169							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TTCCTCGTCCGCATCTGTTTCC	0.733																																																0																																										SO:0001583	missense	85364			AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"Zinc fingers, CCHC domain containing"	16230	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 99"	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	Exception_encountered	20.37:g.278733_278734delinsAT	ENSP00000371789:p.Arg169His		Q3B7J3|Q6NT79	Missense_Mutation|Silent	SNP	ENST00000382352.3	37	CCDS42844.1																																																																																				0.733	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			AT	278734	GC	AT	278733	3	1	420	1	0	0	0	0	1	0	0	0	17594	1087	38	1	508	1	ZCCHC3	20	278733	Missense_Mutation	DNP	GC	TCGA-BP-5168-01A-01D-1421-08		278733	62746787	118	22974											
SCRT2	85508	broad.mit.edu	37	20	656174	656174	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:656174G>A	ENST00000246104.6	-	1	649	c.72C>T	c.(70-72)acC>acT	p.T24T	RP5-850E9.3_ENST00000488788.2_Silent_p.T24T	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	24					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.T24T(1)		kidney(1)|liver(1)|ovary(1)	3						AGGGGTGGTAGGTGGGGGCCG	0.731																																																1	Substitution - coding silent(1)	kidney(1)											6	9	8					20																	656174		2142	4197	6339	SO:0001819	synonymous_variant	85508				CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"Zinc fingers, C2H2-type"	15952	protein-coding gene	gene with protein product			"scratch (drosophila homolog) 2, zinc finger protein", "scratch homolog 2, zinc finger protein (Drosophila)"			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.72C>T	20.37:g.656174G>A				Silent	SNP	ENST00000246104.6	37	CCDS13006.1																																																																																				0.731	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2	NM_033129		A	656174	G	A	656174	2	1	420	1	0	0	0	0	0	0	0	1	13948	987	35	2		2	SCRT2	20	656174	Silent	SNP	G	TCGA-BP-5168-01A-01D-1421-08	377441	656174	62369346	119	22975											
CPXM1	56265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2775211	2775211	+	Silent	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:2775211C>T	ENST00000380605.2	-	13	1999	c.1935G>A	c.(1933-1935)gtG>gtA	p.V645V		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	645					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.V645V(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TAATCCCATCCACGGCAATGA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											170	113	132					20																	2775211		2203	4300	6503	SO:0001819	synonymous_variant	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1935G>A	20.37:g.2775211C>T			Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	CCDS13033.1																																																																																				0.577	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		T	2775211	C	T	2775211	2	4	420	1	0	0	0	0	0	0	0	1	3839	581	21	2		2	CPXM1	20	2775211	Silent	SNP	C	TCGA-BP-5168-01A-01D-1421-08	2119037	2775211	60250309	120	22976											
NKX2-2	4821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	21494259	21494259	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:21494259C>G	ENST00000377142.4	-	1	405	c.49G>C	c.(49-51)Gac>Cac	p.D17H	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	17					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D17H(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCGGCAGGTCTAAGATGTCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											62	62	62					20																	21494259		2203	4300	6503	SO:0001583	missense	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.49G>C	20.37:g.21494259C>G	ENSP00000366347:p.Asp17His			Missense_Mutation	SNP	ENST00000377142.4	37	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810574	0.70797	.	.	ENSG00000125820	ENST00000377142	D	0.91740	-2.9	4.75	3.79	0.43588	.	0.296749	0.37393	N	0.002111	D	0.93969	0.8069	L	0.55481	1.735	0.58432	D	0.999994	D	0.76494	0.999	D	0.64042	0.921	D	0.93779	0.7082	10	0.56958	D	0.05	.	14.481	0.67582	0.0:0.8517:0.1483:0.0	.	17	O95096	NKX22_HUMAN	H	17	ENSP00000366347:D17H	ENSP00000366347:D17H	D	-	1	0	NKX2-2	21442259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.687000	0.68219	0.969000	0.38237	0.563000	0.77884	GAC		0.577	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			G	21494259	C	G	21494259	3	3	420	1	0	0	0	0	1	0	0	0	10452	913	32	4	780	4	NKX2-2	20	21494259	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	18719048	21494259	41531261	121	22977											
CPNE1	8904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34219486	34219486	+	Silent	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:34219486A>G	ENST00000317619.3	-	10	1036	c.642T>C	c.(640-642)gaT>gaC	p.D214D	CPNE1_ENST00000397442.1_Silent_p.D214D|CPNE1_ENST00000397443.1_Silent_p.D214D|CPNE1_ENST00000397446.1_Silent_p.D214D|CPNE1_ENST00000317677.5_Silent_p.D219D|CPNE1_ENST00000397445.1_Silent_p.D214D|CPNE1_ENST00000352393.4_Silent_p.D214D			Q99829	CPNE1_HUMAN	copine I	214	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.D214D(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CACTGTCATAATCGGAGCATT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											69	50	57					20																	34219486		2203	4300	6503	SO:0001819	synonymous_variant	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.642T>C	20.37:g.34219486A>G			E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Silent	SNP	ENST00000317619.3	37	CCDS13260.1																																																																																				0.567	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		G	34219486	A	G	34219486	2	3	420	1	0	0	0	0	0	0	0	1	3813	98	4	3		3	CPNE1	20	34219486	Silent	SNP	A	TCGA-BP-5168-01A-01D-1421-08	12725227	34219486	28806034	122	22978											
GDAP1L1	78997	hgsc.bcm.edu	37	20	42876070	42876070	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:42876070C>G	ENST00000342560.5	+	1	184	c.96C>G	c.(94-96)gaC>gaG	p.D32E	GDAP1L1_ENST00000372952.3_Missense_Mutation_p.D32E|GDAP1L1_ENST00000537864.1_5'UTR	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	32										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGCCCCCGACGCTCCCGAGG	0.692																																																0													9	10	10					20																	42876070		2176	4271	6447	SO:0001583	missense	78997				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.96C>G	20.37:g.42876070C>G	ENSP00000341782:p.Asp32Glu		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	CCDS13328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.349|7.349	0.622532|0.622532	0.14193|0.14193	.|.	.|.	ENSG00000124194|ENSG00000124194	ENST00000342560;ENST00000372946;ENST00000438466;ENST00000372952|ENST00000372947;ENST00000545149	D;D;T|.	0.98792|.	-5.14;-4.64;-0.92|.	4.2|4.2	2.12|2.12	0.27331|0.27331	Thioredoxin-like fold (1);|.	0.771673|.	0.12273|.	N|.	0.483612|.	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.04508|0.04508	-0.205|-0.205	0.80722|0.80722	D|D	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.0;0.0;0.001|.	T|T	0.04522|0.04522	-1.0945|-1.0945	10|6	0.02654|0.22109	T|T	1|0.4	.|.	2.1183|2.1183	0.03719|0.03719	0.287:0.3632:0.2495:0.1002|0.287:0.3632:0.2495:0.1002	.|.	32;32;32|.	B7Z1I3;B7Z621;Q96MZ0|.	.;.;GD1L1_HUMAN|.	E|G	32|32;3	ENSP00000341782:D32E;ENSP00000392881:D32E;ENSP00000362043:D32E|.	ENSP00000341782:D32E|ENSP00000362038:R32G	D|R	+|+	3|1	2|0	GDAP1L1|GDAP1L1	42309484|42309484	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.407000|0.407000	0.21049|0.21049	0.991000|0.991000	0.38814|0.38814	0.462000|0.462000	0.41574|0.41574	GAC|CGC		0.692	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		G	42876070	C	G	42876070	3	3	420	1	0	0	0	0	1	0	0	0	6310	535	19	4	98	4	GDAP1L1	20	42876070	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	8656584	42876070	20149450	123	22979											
SON	6651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34925507	34925507	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr21:34925507G>C	ENST00000356577.4	+	3	4445	c.3970G>C	c.(3970-3972)Gaa>Caa	p.E1324Q	SON_ENST00000290239.6_Missense_Mutation_p.E1324Q|SON_ENST00000381679.4_Missense_Mutation_p.E1324Q|SON_ENST00000300278.4_Missense_Mutation_p.E1324Q|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1324					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E1324Q(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTGCCTCAGAAGTATCTAC	0.502																																																2	Substitution - Missense(2)	kidney(2)											72	61	65					21																	34925507		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3970G>C	21.37:g.34925507G>C	ENSP00000348984:p.Glu1324Gln		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.087|8.087	0.773718|0.773718	0.16051|0.16051	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.13420|.	2.77;2.77;2.76;2.59|.	5.48|5.48	4.59|4.59	0.56863|0.56863	.|.	0.226713|.	0.31156|.	N|.	0.008155|.	T|T	0.37265|0.37265	0.0997|0.0997	L|L	0.27053|0.27053	0.805|0.805	0.24281|0.24281	N|N	0.995208|0.995208	P;P;B;P;P|.	0.39181|.	0.663;0.533;0.037;0.663;0.663|.	B;B;B;B;B|.	0.37888|.	0.172;0.123;0.022;0.26;0.243|.	T|T	0.24476|0.24476	-1.0159|-1.0159	10|5	0.49607|.	T|.	0.09|.	.|.	14.1418|14.1418	0.65325|0.65325	0.0:0.151:0.849:0.0|0.0:0.151:0.849:0.0	.|.	1324;1324;1005;1324;1324|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	Q|H	1324|318	ENSP00000348984:E1324Q;ENSP00000290239:E1324Q;ENSP00000300278:E1324Q;ENSP00000371095:E1324Q|.	ENSP00000290239:E1324Q|.	E|Q	+|+	1|3	0|2	SON|SON	33847377|33847377	0.992000|0.992000	0.36948|0.36948	0.746000|0.746000	0.31095|0.31095	0.090000|0.090000	0.18270|0.18270	3.072000|3.072000	0.50049|0.50049	1.533000|1.533000	0.49186|0.49186	0.609000|0.609000	0.83330|0.83330	GAA|CAG		0.502	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34925507	G	C	34925507	3	2	420	1	0	0	0	0	1	0	0	0	14932	943	33	4	3980	4	SON	21	34925507	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08		34925507	13204388	124	22980											
SETD4	54093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37418054	37418054	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr21:37418054A>T	ENST00000399215.1	-	5	1924	c.552T>A	c.(550-552)ttT>ttA	p.F184L	SETD4_ENST00000332131.4_Missense_Mutation_p.F184L|SETD4_ENST00000399212.1_Missense_Mutation_p.F160L|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399205.1_Missense_Mutation_p.F160L|SETD4_ENST00000399207.1_Missense_Mutation_p.F184L|SETD4_ENST00000399208.2_Missense_Mutation_p.F184L|SETD4_ENST00000399201.1_Missense_Mutation_p.F160L			Q9NVD3	SETD4_HUMAN	SET domain containing 4	184	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)	p.F184L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CAGCCTCCGCAAACAGAGGCT	0.542																																																1	Substitution - Missense(1)	kidney(1)											65	72	69					21																	37418054		2203	4300	6503	SO:0001583	missense	54093			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.552T>A	21.37:g.37418054A>T	ENSP00000382163:p.Phe184Leu		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948020	0.34377	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207;ENST00000424303;ENST00000429161	T;T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	4.96	1.23	0.21249	SET domain (1);	0.108055	0.64402	N	0.000004	T	0.13586	0.0329	L	0.59912	1.85	0.46849	D	0.999227	B;B;B;B	0.31730	0.077;0.337;0.146;0.276	B;B;B;B	0.35114	0.196;0.162;0.058;0.137	T	0.07908	-1.0748	10	0.25106	T	0.35	-5.6889	8.7436	0.34571	0.7771:0.0:0.2229:0.0	.	160;184;160;184	A8MTS1;C9JWV5;Q9NVD3-3;Q9NVD3	.;.;.;SETD4_HUMAN	L	184;160;184;160;184;160;184;184;184	ENSP00000382163:F184L;ENSP00000382161:F160L;ENSP00000329189:F184L;ENSP00000382156:F160L;ENSP00000382159:F184L;ENSP00000382152:F160L;ENSP00000382158:F184L;ENSP00000399998:F184L;ENSP00000396837:F184L	ENSP00000329189:F184L	F	-	3	2	SETD4	36339924	0.340000	0.24792	0.606000	0.28943	0.780000	0.44128	0.833000	0.27504	0.315000	0.23110	0.533000	0.62120	TTT		0.542	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		T	37418054	A	T	37418054	3	4	420	1	0	0	0	0	1	0	0	0	14139	127	5	5	817	5	SETD4	21	37418054	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	2492547	37418054	10711841	125	22981											
MMP11	4320	hgsc.bcm.edu;ucsc.edu	37	22	24121517	24121517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr22:24121517delC	ENST00000215743.3	+	2	304	c.252delC	c.(250-252)gacfs	p.D84fs	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	84					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	GCGTGCCCGACCCATCTGATG	0.697																																																0													20	21	21					22																	24121517		2203	4300	6503	SO:0001589	frameshift_variant	4320				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.252delC	22.37:g.24121517delC	ENSP00000215743:p.Asp84fs		Q5FX24|Q6PEZ6|Q9UC26	Frame_Shift_Del	DEL	ENST00000215743.3	37	CCDS13816.1																																																																																				0.697	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		-	24121517	C	-	24121517	7	5	420	1	0	1	0	1	0	0	0	0	9652	506	18	0	258	0	MMP11	22	24121517	Frame_Shift_Del	DEL	C	TCGA-BP-5168-01A-01D-1421-08		24121517	27183049	126	22982											
CSF2RA	1438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1422842	1422842	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chrX:1422842G>C	ENST00000381524.3	+	11	1159	c.973G>C	c.(973-975)Gtg>Ctg	p.V325L	CSF2RA_ENST00000501036.2_Missense_Mutation_p.V192L|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V359L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V325L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V325L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V325L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	325					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.V325L(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCTCGGCTCTGTGTACATTTA	0.512																																					Esophageal Squamous(131;723 1707 25334 40494 41806)											2	Substitution - Missense(2)	kidney(2)											484	427	447					X																	1422842		2203	4296	6499	SO:0001583	missense	1438			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.973G>C	X.37:g.1422842G>C	ENSP00000370935:p.Val325Leu		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	1.670	-0.509166	0.04231	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000417535	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	0.806	0.806	0.18708	.	2.056800	0.03791	U	0.262831	T	0.18173	0.0436	.	.	.	0.19300	N	0.999975	B;B;B	0.21225	0.045;0.031;0.053	B;B;B	0.14023	0.01;0.008;0.01	T	0.18650	-1.0330	8	.	.	.	.	4.8831	0.13690	0.0:0.0:1.0:0.0	.	325;359;325	P15509-2;A7J003;P15509	.;.;CSF2R_HUMAN	L	325;325;192;325;325;359	ENSP00000370940:V325L;ENSP00000416437:V325L;ENSP00000440491:V192L;ENSP00000370935:V325L;ENSP00000370920:V325L;ENSP00000394227:V359L	.	V	+	1	0	CSF2RA	1382842	0.000000	0.05858	0.004000	0.12327	0.070000	0.16714	-0.100000	0.10990	0.736000	0.32559	0.100000	0.15512	GTG		0.512	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			C	1422842	G	C	1422842	3	2	420	1	0	0	0	0	1	0	0	0	3936	1377	48	4	1113	4	CSF2RA	23	1422842	Missense_Mutation	SNP	G	TCGA-BP-5168-01A-01D-1421-08		1422842	153847718	127	22983											
ARHGAP6	395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	11204520	11204520	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chrX:11204520A>T	ENST00000337414.4	-	5	1981	c.1109T>A	c.(1108-1110)cTt>cAt	p.L370H	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.L195H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.L370H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L167H|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.L179H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.L402H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L167H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	370					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.L370H(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATTGTCATCAAGATCGGTGAT	0.453																																																1	Substitution - Missense(1)	kidney(1)											128	118	121					X																	11204520		2203	4300	6503	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1109T>A	X.37:g.11204520A>T	ENSP00000338967:p.Leu370His		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540924	0.85917	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.27720	1.68;1.65;1.65;1.65;1.68;1.66;1.75;1.79	5.51	5.51	0.81932	.	0.000000	0.47852	D	0.000204	T	0.51295	0.1666	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.988;0.992;0.994;0.997;0.998	T	0.53308	-0.8457	10	0.72032	D	0.01	.	14.6981	0.69136	1.0:0.0:0.0:0.0	.	179;167;370;370;370	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	H	195;167;167;370;206;370;179;402	ENSP00000438135:L195H;ENSP00000370112:L167H;ENSP00000302312:L167H;ENSP00000338967:L370H;ENSP00000370093:L206H;ENSP00000370094:L370H;ENSP00000389394:L179H;ENSP00000370108:L402H	ENSP00000302312:L167H	L	-	2	0	ARHGAP6	11114441	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.716000	0.91420	1.852000	0.53769	0.486000	0.48141	CTT		0.453	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		T	11204520	A	T	11204520	3	4	420	1	0	0	0	0	1	0	0	0	887	72	3	5	1973	5	ARHGAP6	23	11204520	Missense_Mutation	SNP	A	TCGA-BP-5168-01A-01D-1421-08	9781678	11204520	144066040	128	22984											
USP9X	8239	broad.mit.edu;hgsc.bcm.edu	37	X	41088595	41088595	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chrX:41088595C>A	ENST00000324545.8	+	42	7784	c.7151C>A	c.(7150-7152)gCa>gAa	p.A2384E	USP9X_ENST00000378308.2_Missense_Mutation_p.A2384E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2384					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.A2377E(1)|p.A2384E(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAAAAAGAGCATACCAGTGT	0.363																																					Ovarian(172;1807 2695 35459 49286)											2	Substitution - Missense(2)	kidney(2)											39	36	37					X																	41088595		2096	4253	6349	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7151C>A	X.37:g.41088595C>A	ENSP00000316357:p.Ala2384Glu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742964	0.89573	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03745	3.83;3.82	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65233	0.933;0.859	T	0.00379	-1.1777	10	0.49607	T	0.09	.	18.153	0.89682	0.0:1.0:0.0:0.0	.	2384;2384	Q93008-1;Q93008	.;USP9X_HUMAN	E	2384	ENSP00000367558:A2384E;ENSP00000316357:A2384E	ENSP00000316357:A2384E	A	+	2	0	USP9X	40973539	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	7.356000	0.79445	2.311000	0.77944	0.600000	0.82982	GCA		0.363	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	41088595	C	A	41088595	3	1	420	1	0	0	0	0	1	0	0	0	17095	710	25	4	7313	4	USP9X	23	41088595	Missense_Mutation	SNP	C	TCGA-BP-5168-01A-01D-1421-08	29884075	41088595	114181965	129	22985											
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10363881	10363881	+	Intron	SNP	G	G	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr1:10363881G>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.A880S|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377093.4_Missense_Mutation_p.A880S			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.A880S(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTGTTGGTGCTGGTGTTAG	0.438																																																1	Substitution - Missense(1)	kidney(1)											45	49	48					1																	10363881		2203	4300	6503	SO:0001627	intron_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6577G>T	1.37:g.10363881G>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	0.188	-1.055978	0.01965	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.72942	-0.7;-0.7	5.47	3.58	0.41010	.	.	.	.	.	T	0.56688	0.2002	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51741	-0.8667	8	0.26408	T	0.33	.	12.2836	0.54779	0.1249:0.0:0.8751:0.0	.	880	O60333-3	.	S	880	ENSP00000366297:A880S;ENSP00000366287:A880S	ENSP00000366287:A880S	A	+	1	0	KIF1B	10286468	0.998000	0.40836	0.064000	0.19789	0.032000	0.12392	3.947000	0.56652	2.553000	0.86117	0.655000	0.94253	GCT		0.438	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			T	10363881	G	T	10363881	1	4	421	0	1	0	0	0	0	0	0	0	8286	1319	46	4		4	KIF1B	1	10363881	Intron	SNP	G	TCGA-BP-5169-01A-01D-1429-08		10363881	238886740	1	22986											
MTHFR	4524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11855302	11855302	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr1:11855302C>A	ENST00000376592.1	-	5	1012	c.884G>T	c.(883-885)cGc>cTc	p.R295L	MTHFR_ENST00000376585.1_Missense_Mutation_p.R336L|MTHFR_ENST00000376590.3_Missense_Mutation_p.R295L|MTHFR_ENST00000376583.3_Missense_Mutation_p.R336L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	295					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.R295L(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GCCATAGTTGCGGATGGCAGC	0.582																																																1	Substitution - Missense(1)	kidney(1)											107	99	101					1																	11855302		2203	4300	6503	SO:0001583	missense	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.884G>T	1.37:g.11855302C>A	ENSP00000365777:p.Arg295Leu		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892619	0.91889	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	4.97	4.06	0.47325	.	0.049455	0.85682	D	0.000000	D	0.95667	0.8591	M	0.87971	2.92	0.58432	D	0.999993	P;D	0.55172	0.948;0.97	P;P	0.62184	0.887;0.899	D	0.95912	0.8924	10	0.87932	D	0	.	12.5744	0.56355	0.0:0.9192:0.0:0.0808	.	295;336	P42898;Q5SNW6	MTHR_HUMAN;.	L	295;336;295;336	ENSP00000365777:R295L;ENSP00000365767:R336L;ENSP00000365775:R295L;ENSP00000365770:R336L	ENSP00000365767:R336L	R	-	2	0	MTHFR	11777889	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.399000	0.66314	1.222000	0.43521	0.462000	0.41574	CGC		0.582	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		A	11855302	C	A	11855302	3	1	421	1	0	0	0	0	1	0	0	0	9933	768	27	4	1114	4	MTHFR	1	11855302	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	1491421	11855302	237395319	2	22987											
HSPG2	3339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22168731	22168731	+	Splice_Site	SNP	C	C	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr1:22168731C>T	ENST00000374695.3	-	68	9132		c.e68+1			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.?(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCCATACTCACGGTAGGAAGA	0.652																																																1	Unknown(1)	kidney(1)											54	52	53					1																	22168731		2203	4300	6503	SO:0001630	splice_region_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9052+1G>A	1.37:g.22168731C>T			Q16287|Q5SZI3|Q9H3V5	Splice_Site	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580352	0.46006	.	.	ENSG00000142798	ENST00000374695	.	.	.	4.95	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4558	0.61197	0.0:0.8417:0.1583:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22041318	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	4.215000	0.58534	2.276000	0.75962	0.462000	0.41574	.		0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	Intron	T	22168731	C	T	22168731	5	4	421	1	0	0	0	0	0	0	1	0	7432	550	19	1	4242	1	HSPG2	1	22168731	Splice_Site	SNP	C	TCGA-BP-5169-01A-01D-1429-08	10313429	22168731	227081890	3	22988											
ZMYM4	9202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35857906	35857906	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr1:35857906G>C	ENST00000314607.6	+	16	2761	c.2681G>C	c.(2680-2682)aGt>aCt	p.S894T	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S805T	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	894					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S894T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATTGGCAAGTGCCCCTGCT	0.433																																																1	Substitution - Missense(1)	kidney(1)											80	73	75					1																	35857906		2203	4300	6503	SO:0001583	missense	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2681G>C	1.37:g.35857906G>C	ENSP00000322915:p.Ser894Thr		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.72|13.72	2.320135|2.320135	0.41096|0.41096	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	.|T;T	.|0.23147	.|1.92;1.95	4.79|4.79	3.87|3.87	0.44632|0.44632	.|.	.|0.207606	.|0.50627	.|D	.|0.000109	T|T	0.25494|0.25494	0.0620|0.0620	L|L	0.51422|0.51422	1.61|1.61	0.45097|0.45097	D|D	0.99811|0.99811	.|B	.|0.14438	.|0.01	.|B	.|0.17098	.|0.017	T|T	0.05053|0.05053	-1.0909|-1.0909	5|10	.|0.49607	.|T	.|0.09	-6.579|-6.579	13.104|13.104	0.59237|0.59237	0.0787:0.0:0.9213:0.0|0.0787:0.0:0.9213:0.0	.|.	.|894	.|Q5VZL5	.|ZMYM4_HUMAN	N|T	553|894;805	.|ENSP00000322915:S894T;ENSP00000362394:S805T	.|ENSP00000322915:S894T	K|S	+|+	3|2	2|0	ZMYM4|ZMYM4	35630493|35630493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.102000|5.102000	0.64572|0.64572	1.133000|1.133000	0.42147|0.42147	0.591000|0.591000	0.81541|0.81541	AAG|AGT		0.433	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		C	35857906	G	C	35857906	3	2	421	1	0	0	0	0	1	0	0	0	17707	1029	36	4	2743	4	ZMYM4	1	35857906	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	13689175	35857906	213392715	4	22989											
SELE	6401	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169697008	169697008	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr1:169697008G>A	ENST00000333360.7	-	9	1479	c.1340C>T	c.(1339-1341)cCt>cTt	p.P447L	SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.P384L|SELE_ENST00000367776.1_Missense_Mutation_p.P384L|SELE_ENST00000367775.1_Missense_Mutation_p.P322L|SELE_ENST00000367777.1_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.P322L	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	447	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.P447L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TTCTCCAATAGGGGAATGAGC	0.488																																																1	Substitution - Missense(1)	kidney(1)											100	95	97					1																	169697008		2203	4300	6503	SO:0001583	missense	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1340C>T	1.37:g.169697008G>A	ENSP00000331736:p.Pro447Leu		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874730	0.51695	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.9	2.94	0.34122	Complement control module (2);Sushi/SCR/CCP (3);	1.436570	0.04558	N	0.391037	T	0.45438	0.1342	L	0.54908	1.71	0.20563	N	0.999884	P	0.36909	0.573	B	0.34590	0.186	T	0.35549	-0.9784	10	0.32370	T	0.25	-1.3324	6.956	0.24572	0.081:0.0:0.5874:0.3316	.	447	P16581	LYAM2_HUMAN	L	384;322;447;322;384	ENSP00000356755:P384L;ENSP00000356754:P322L;ENSP00000331736:P447L;ENSP00000356749:P322L;ENSP00000356750:P384L	ENSP00000331736:P447L	P	-	2	0	SELE	167963632	0.000000	0.05858	0.006000	0.13384	0.539000	0.34962	0.053000	0.14184	0.345000	0.23873	0.650000	0.86243	CCT		0.488	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		A	169697008	G	A	169697008	3	1	421	1	0	0	0	0	1	0	0	0	14019	1000	35	2	512	2	SELE	1	169697008	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	133839102	169697008	79553613	5	22990											
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32689778	32689778	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr2:32689778G>T	ENST00000421745.2	+	25	5277	c.5143G>T	c.(5143-5145)Gca>Tca	p.A1715S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1715					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A1687S(1)|p.A1715S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACCCAATGAAGCAGTTTCCGT	0.458																																					Pancreas(94;175 1509 16028 18060 45422)											2	Substitution - Missense(2)	kidney(2)											144	136	139					2																	32689778		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5143G>T	2.37:g.32689778G>T	ENSP00000393596:p.Ala1715Ser		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597866	0.66332	.	.	ENSG00000115760	ENST00000421745	T	0.74737	-0.87	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	L	0.42245	1.32	0.58432	D	0.999999	P	0.37466	0.596	B	0.29785	0.107	T	0.70375	-0.4889	10	0.54805	T	0.06	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	1715	Q9NR09	BIRC6_HUMAN	S	1715	ENSP00000393596:A1715S	ENSP00000393596:A1715S	A	+	1	0	BIRC6	32543282	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.876000	0.87215	2.760000	0.94817	0.655000	0.94253	GCA		0.458	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32689778	G	T	32689778	3	4	421	1	0	0	0	0	1	0	0	0	1438	971	34	4	5241	4	BIRC6	2	32689778	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08		32689778	210509595	6	22991											
SLC9A4	389015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	103120167	103120167	+	Splice_Site	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr2:103120167G>A	ENST00000295269.4	+	3	1437		c.e3+1			NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4						epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCATCCTGGCGTGAGTACAAA	0.433																																																1	Unknown(1)	kidney(1)											102	100	100					2																	103120167		2203	4300	6503	SO:0001630	splice_region_variant	389015				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.980+1G>A	2.37:g.103120167G>A			Q69YK0	Splice_Site	SNP	ENST00000295269.4	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510328	0.85389	.	.	ENSG00000180251	ENST00000295269	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC9A4	102486599	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.813000	0.99286	2.793000	0.96121	0.655000	0.94253	.		0.433	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	Intron	A	103120167	G	A	103120167	5	1	421	1	0	0	0	0	0	0	1	0	14722	1159	40	1	991	1	SLC9A4	2	103120167	Splice_Site	SNP	G	TCGA-BP-5169-01A-01D-1429-08	70430389	103120167	140079206	7	22992											
IWS1	55677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128252517	128252517	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr2:128252517A>C	ENST00000295321.4	-	8	1989	c.1730T>G	c.(1729-1731)tTg>tGg	p.L577W	IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	577	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L577W(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTGATTGTTCAACTGTCTGTC	0.259																																																1	Substitution - Missense(1)	kidney(1)											77	82	80					2																	128252517		2201	4292	6493	SO:0001583	missense	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1730T>G	2.37:g.128252517A>C	ENSP00000295321:p.Leu577Trp		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406193	0.83230	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.52526	0.66	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	M	0.83774	2.66	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.74682	-0.3583	10	0.52906	T	0.07	-3.9598	16.1809	0.81898	1.0:0.0:0.0:0.0	.	577	Q96ST2	IWS1_HUMAN	W	577;530	ENSP00000295321:L577W	ENSP00000295321:L577W	L	-	2	0	IWS1	127968987	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.281000	0.95811	2.229000	0.72834	0.383000	0.25322	TTG		0.259	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		C	128252517	A	C	128252517	3	2	421	1	0	0	0	0	1	0	0	0	7933	131	5	5	757	5	IWS1	2	128252517	Missense_Mutation	SNP	A	TCGA-BP-5169-01A-01D-1429-08	25132350	128252517	114946856	8	22993											
SLC23A3	151295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220033819	220033819	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr2:220033819G>A	ENST00000409878.3	-	4	456	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	SLC23A3_ENST00000295738.7_Missense_Mutation_p.L142F|SLC23A3_ENST00000455516.2_Missense_Mutation_p.L150F|SLC23A3_ENST00000396775.3_Missense_Mutation_p.L84F	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	142					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.L150F(1)|p.L142F(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCAGCATGAGGGAGGCTAGG	0.562																																																2	Substitution - Missense(2)	kidney(2)											82	85	84					2																	220033819		2035	4193	6228	SO:0001583	missense	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.424C>T	2.37:g.220033819G>A	ENSP00000386473:p.Leu142Phe		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843270	0.51057	.	.	ENSG00000213901	ENST00000396775;ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	T;T;T;T;T	0.50277	0.75;2.13;2.11;0.75;2.13	5.0	3.19	0.36642	.	0.850231	0.10280	N	0.693664	T	0.51568	0.1682	L	0.32530	0.975	0.30783	N	0.741769	P;P;D	0.69078	0.873;0.873;0.997	B;B;P	0.62184	0.419;0.419;0.899	T	0.47289	-0.9129	9	.	.	.	.	7.7013	0.28625	0.0882:0.165:0.7468:0.0	.	142;150;142	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	F	84;142;142;150;142;97	ENSP00000295738:L142F;ENSP00000386473:L142F;ENSP00000406546:L150F;ENSP00000386989:L142F;ENSP00000388907:L97F	.	L	-	1	0	SLC23A3	219742063	0.016000	0.18221	0.978000	0.43139	0.727000	0.41649	0.422000	0.21296	0.693000	0.31634	0.655000	0.94253	CTC		0.562	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		A	220033819	G	A	220033819	3	1	421	1	0	0	0	0	1	0	0	0	14470	1000	35	2	1444	2	SLC23A3	2	220033819	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	91781302	220033819	23165554	9	22994											
PAX3	5077	broad.mit.edu;hgsc.bcm.edu	37	2	223066808	223066808	+	Silent	SNP	C	C	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr2:223066808C>A	ENST00000350526.4	-	8	1411	c.1275G>T	c.(1273-1275)gtG>gtT	p.V425V	PAX3_ENST00000392069.2_Silent_p.V425V|PAX3_ENST00000409551.3_Silent_p.V424V|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000392070.2_Silent_p.V425V	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	425					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V425V(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGCCGACACCGTGGTGG	0.572			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																Dom	yes		2	2q35	5077	paired box gene 3	yes	M	1	Substitution - coding silent(1)	kidney(1)											101	90	94					2																	223066808		2203	4300	6503	SO:0001819	synonymous_variant	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1275G>T	2.37:g.223066808C>A			G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	CCDS42826.1																																																																																				0.572	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			A	223066808	C	A	223066808	2	1	421	1	0	0	0	0	0	0	0	1	11482	465	17	4		4	PAX3	2	223066808	Silent	SNP	C	TCGA-BP-5169-01A-01D-1429-08	3032989	223066808	20132565	10	22995											
HJURP	55355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234749963	234749963	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr2:234749963G>A	ENST00000411486.2	-	8	1528	c.1463C>T	c.(1462-1464)cCt>cTt	p.P488L	HJURP_ENST00000432087.1_Missense_Mutation_p.P434L|HJURP_ENST00000441687.1_Missense_Mutation_p.P403L|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	488					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.P488L(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTTGCTGGAAGGTAAACTCAG	0.527																																																1	Substitution - Missense(1)	kidney(1)											84	87	86					2																	234749963		2203	4300	6503	SO:0001583	missense	55355				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1463C>T	2.37:g.234749963G>A	ENSP00000414109:p.Pro488Leu		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138904	0.37728	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.28069	1.83;1.88;1.86;1.63	4.53	1.79	0.24919	.	1.134810	0.06472	N	0.731406	T	0.21631	0.0521	N	0.24115	0.695	0.09310	N	1	B;B;B	0.23735	0.09;0.09;0.054	B;B;B	0.23419	0.046;0.046;0.021	T	0.30179	-0.9987	10	0.44086	T	0.13	-0.4596	6.6315	0.22859	0.2866:0.0:0.7134:0.0	.	403;434;488	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	L	488;434;403;403	ENSP00000414109:P488L;ENSP00000407208:P434L;ENSP00000401944:P403L;ENSP00000393253:P403L	ENSP00000414109:P488L	P	-	2	0	HJURP	234414702	0.001000	0.12720	0.001000	0.08648	0.107000	0.19398	0.625000	0.24477	0.423000	0.26033	0.655000	0.94253	CCT		0.527	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		A	234749963	G	A	234749963	3	1	421	1	0	0	0	0	1	0	0	0	7191	1000	35	2	791	2	HJURP	2	234749963	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	11683155	234749963	8449410	11	22996											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10188200	10188200	+	Missense_Mutation	SNP	C	C	T	rs5030812|rs5030811		TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr3:10188200C>T	ENST00000256474.2	+	2	1183	c.343C>T	c.(343-345)Cac>Tac	p.H115Y	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	115	Involved in binding to CCT complex.		H -> Q (in VHLD; type II). {ECO:0000269|PubMed:9829912}.|H -> R (in VHLD; type II; dbSNP:rs5030812).|H -> Y (in VHLD; type I; dbSNP:rs5030811). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.H115N(7)|p.H115Y(5)|p.?(3)|p.H115fs*15(1)|p.H115D(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.H115fs*44(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGATAGGTCACCTTTGGCT	0.532		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	20	Substitution - Missense(13)|Deletion - Frameshift(4)|Unknown(3)	kidney(19)|pancreas(1)	GRCh37	CM961423|CM982005	VHL	M	rs5030811						167	155	159					3																	10188200		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.343C>T	3.37:g.10188200C>T	ENSP00000256474:p.His115Tyr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188235	0.57909	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99963	-9.62	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99966	0.9987	M	0.84511	2.7	0.80722	D	1	D	0.69078	0.997	D	0.67231	0.95	D	0.95010	0.8151	10	0.66056	D	0.02	0.1733	16.3181	0.82935	0.0:1.0:0.0:0.0	rs5030811	115	P40337	VHL_HUMAN	Y	115;33	ENSP00000256474:H115Y	ENSP00000256474:H115Y	H	+	1	0	VHL	10163200	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	5.806000	0.69150	2.530000	0.85305	0.563000	0.77884	CAC		0.532	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188200	C	T	10188200	3	4	421	1	0	0	0	0	1	0	0	0	17167	826	29	2	349	2	VHL	3	10188200	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08		10188200	187834230	12	22997											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47125380	47125380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr3:47125380C>A	ENST00000409792.3	-	12	5932	c.5890G>T	c.(5890-5892)Gag>Tag	p.E1964*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1964					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E1461*(1)|p.E1964*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCGTTGCTCTCTTTGGGCTCT	0.443			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											257	220	233					3																	47125380		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5890G>T	3.37:g.47125380C>A	ENSP00000386759:p.Glu1964*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	47	13.198478	0.99726	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.69	4.81	0.61882	.	0.213333	0.32593	N	0.005889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.8476	0.70272	0.0:0.9308:0.0:0.0692	.	.	.	.	X	1964	.	ENSP00000386759:E1964X	E	-	1	0	SETD2	47100384	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.691000	0.47010	1.387000	0.46486	0.650000	0.86243	GAG		0.443	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47125380	C	A	47125380	4	1	421	1	0	0	0	0	0	1	0	0	14137	922	32	4	1844	4	SETD2	3	47125380	Nonsense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	36937180	47125380	150897050	13	22998											
LAMB2	3913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49160288	49160288	+	Silent	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr3:49160288G>A	ENST00000418109.1	-	28	4586	c.4422C>T	c.(4420-4422)ctC>ctT	p.L1474L	USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank|LAMB2_ENST00000305544.4_Silent_p.L1474L|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000398888.2_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1474	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.L1474L(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCACTCTGCTGAGGATGCTAC	0.662																																																1	Substitution - coding silent(1)	kidney(1)											62	62	62					3																	49160288		2203	4300	6503	SO:0001819	synonymous_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4422C>T	3.37:g.49160288G>A			Q16321	Silent	SNP	ENST00000418109.1	37	CCDS2789.1																																																																																				0.662	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		A	49160288	G	A	49160288	2	1	421	1	0	0	0	0	0	0	0	1	8613	1277	45	2		2	LAMB2	3	49160288	Silent	SNP	G	TCGA-BP-5169-01A-01D-1429-08	2034908	49160288	148862142	14	22999											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52595787	52595787	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr3:52595787A>C	ENST00000296302.7	-	25	4285	c.4284T>G	c.(4282-4284)taT>taG	p.Y1428*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y1428*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y1443*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y1443*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y1428*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Y1396*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y1403*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y1376*|RNU6ATAC16P_ENST00000408591.1_RNA|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1428					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y1428*(2)|p.Y1396*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTTACCTTCATATTCTGCTT	0.498			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											265	270	268					3																	52595787		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4284T>G	3.37:g.52595787A>C	ENSP00000296302:p.Tyr1428*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	42	9.572483	0.99208	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.89	2.25	0.28309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4144	8.4849	0.33065	0.72:0.0:0.28:0.0	.	.	.	.	X	1396;1376;1428;1428;1428;1403;1443;1443;1427	.	ENSP00000296302:Y1428X	Y	-	3	2	PBRM1	52570827	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.286000	0.43496	0.477000	0.27464	0.455000	0.32223	TAT		0.498	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52595787	A	C	52595787	4	2	421	1	0	0	0	0	0	1	0	0	11493	224	8	5	640	5	PBRM1	3	52595787	Nonsense_Mutation	SNP	A	TCGA-BP-5169-01A-01D-1429-08	3435499	52595787	145426643	15	23000											
ACAD11	84129	broad.mit.edu;hgsc.bcm.edu	37	3	132323956	132323956	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr3:132323956C>G	ENST00000264990.6	-	12	2479	c.1508G>C	c.(1507-1509)tGc>tCc	p.C503S	ACAD11_ENST00000355458.3_Missense_Mutation_p.C503S|ACAD11_ENST00000545291.1_Missense_Mutation_p.C28S	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	503					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.C503S(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CATACAGAAGCAAGAGGTAAT	0.453																																																1	Substitution - Missense(1)	kidney(1)											163	150	154					3																	132323956		2203	4300	6503	SO:0001583	missense	84129			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1508G>C	3.37:g.132323956C>G	ENSP00000264990:p.Cys503Ser		Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529205	0.64860	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.95272	-3.66;-3.66;-3.66	4.95	0.811	0.18739	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	.	.	.	.	D	0.91915	0.7440	L	0.42487	1.325	0.80722	D	1	P	0.42123	0.771	P	0.44623	0.455	D	0.87620	0.2509	9	0.52906	T	0.07	.	11.4652	0.50235	0.1291:0.5342:0.3366:0.0	.	503	Q709F0	ACD11_HUMAN	S	503;503;28	ENSP00000347636:C503S;ENSP00000264990:C503S;ENSP00000446263:C28S	ENSP00000264990:C503S	C	-	2	0	ACAD11	133806646	1.000000	0.71417	0.514000	0.27761	0.979000	0.70002	1.625000	0.37029	-0.161000	0.10983	0.655000	0.94253	TGC		0.453	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		G	132323956	C	G	132323956	3	3	421	1	0	0	0	0	1	0	0	0	109	710	25	4	870	4	ACAD11	3	132323956	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	79728169	132323956	65698474	16	23001											
FBXL21	3950	hgsc.bcm.edu	37	5	135276202	135276204	+	5'UTR	DEL	GTT	GTT	-	rs553770840|rs1160982|rs568134250	byFrequency	TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	GTT	GTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr5:135276202_135276204delGTT	ENST00000471827.1	-	0	557_559				FBXL21_ENST00000297158.9_RNA|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000522943.1_Intron			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)			large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCACTTACAGTTGTTTTTATCA	0.291														3677	0.734225	0.6437	0.7637	5008	,	,		15660	0.7817		0.7078	False		,,,				2504	0.8139															0										2327,1203		774,779,212						-5.4	1		dbSNP_87	50	5563,2261		2004,1555,353	no	coding	FBXL21	NM_012159.4		2778,2334,565	A1A1,A1R,RR		28.8983,34.0793,30.5091				7890,3464				SO:0001623	5_prime_UTR_variant	26223			AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000471827.1:c.-255AAC>-	5.37:g.135276205_135276207delGTT			B2RA90|O14565|Q52M49	In_Frame_Del	DEL	ENST00000471827.1	37																																																																																					0.291	LECT2-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000342497.1	NM_002302		-	135276204	GTT	-	135276202	6	5	421	0	1	1	0	1	0	0	0	0	5720	1029	36	0		0	FBXL21	5	135276202	5'UTR	DEL	GTT	TCGA-BP-5169-01A-01D-1429-08		135276202	45639058	17	23002											
CLINT1	9685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	157232998	157232998	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr5:157232998G>T	ENST00000411809.2	-	7	1022	c.818C>A	c.(817-819)aCc>aAc	p.T273N	CLINT1_ENST00000523094.1_Missense_Mutation_p.T255N|CLINT1_ENST00000530742.1_Missense_Mutation_p.T255N|CLINT1_ENST00000296951.5_Missense_Mutation_p.T255N|CLINT1_ENST00000523908.1_Missense_Mutation_p.T273N	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	273					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.T255N(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGTGTCTGGTTGTGGTGGT	0.478																																					Colon(22;427 587 2170 6147 14291)											2	Substitution - Missense(2)	kidney(2)											263	266	265					5																	157232998		2150	4244	6394	SO:0001583	missense	9685			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.818C>A	5.37:g.157232998G>T	ENSP00000388340:p.Thr273Asn		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735753	0.69189	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.49139	0.8;0.8;0.83;0.8;0.79	5.63	5.63	0.86233	.	0.043535	0.85682	D	0.000000	T	0.41026	0.1141	L	0.55990	1.75	0.51012	D	0.999909	B;P	0.40794	0.28;0.729	B;B	0.39258	0.156;0.295	T	0.17623	-1.0363	10	0.17369	T	0.5	-13.1452	11.12	0.48284	0.0709:0.1302:0.7989:0.0	.	273;273	B7Z6F8;Q14677	.;EPN4_HUMAN	N	255;255;273;255;273	ENSP00000429345:T255N;ENSP00000433419:T255N;ENSP00000388340:T273N;ENSP00000296951:T255N;ENSP00000429824:T273N	ENSP00000296951:T255N	T	-	2	0	CLINT1	157165576	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.189000	0.58358	2.656000	0.90262	0.557000	0.71058	ACC		0.478	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		T	157232998	G	T	157232998	3	4	421	1	0	0	0	0	1	0	0	0	3533	1261	44	4	1083	4	CLINT1	5	157232998	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	21956796	157232998	23682262	18	23003											
PRDM13	59336	broad.mit.edu	37	6	100057184	100057184	+	Splice_Site	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr6:100057184G>A	ENST00000369215.4	+	3	702		c.e3+1			NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GACGAGAAAGGTACCCATTCC	0.532																																																1	Unknown(1)	kidney(1)											56	62	60					6																	100057184		2135	4259	6394	SO:0001630	splice_region_variant	59336			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.397+1G>A	6.37:g.100057184G>A			Q5TGC1|Q5TGC2	Splice_Site	SNP	ENST00000369215.4	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015793	0.54468	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9252	0.92541	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRDM13	100163905	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	9.430000	0.97488	2.579000	0.87056	0.558000	0.71614	.		0.532	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2		Intron	A	100057184	G	A	100057184	5	1	421	1	0	0	0	0	0	0	1	0	12459	1275	44	2	408	2	PRDM13	6	100057184	Splice_Site	SNP	G	TCGA-BP-5169-01A-01D-1429-08		100057184	71057883	19	23004											
AIM1	202	ucsc.edu	37	6	106960877	106960877	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	.	WXS	454	.		Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr6:106960877G>T	ENST00000369066.3	+	1	1148	c.661G>T	c.(661-663)Ggc>Tgc	p.G221C		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0			Missing (in OCA4). {ECO:0000269|PubMed:14722913}.		developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.G221C(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAACCATTTCGGCGTGGGCAG	0.657																																																1	Substitution - Missense(1)	kidney(1)											14	17	16					6																	106960877		2199	4294	6493	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.661G>T	6.37:g.106960877G>T	ENSP00000358062:p.Gly221Cys		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472751	0.63737	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.74002	-0.8	5.09	5.09	0.68999	.	0.465636	0.16044	N	0.232290	T	0.81240	0.4781	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82540	-0.0406	10	0.72032	D	0.01	.	15.6621	0.77197	0.0:0.0:1.0:0.0	.	221	Q9Y4K1	AIM1_HUMAN	C	629;221	ENSP00000358062:G221C	ENSP00000285105:G629C	G	+	1	0	AIM1	107067570	1.000000	0.71417	0.310000	0.25168	0.474000	0.32979	5.630000	0.67805	2.365000	0.80145	0.655000	0.94253	GGC		0.657	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106960877	G	T	106960877	3	4	421	1	0	0	0	0	1	0	0	0	430	1116	39	4	663	4	AIM1	6	106960877	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	6903693	106960877	64154190	20	23005											
TPST1	8460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	65705680	65705680	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr7:65705680G>T	ENST00000304842.5	+	2	693	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	90					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.D90Y(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGCCATGCTGGACGCACATCC	0.502																																																1	Substitution - Missense(1)	kidney(1)											99	91	93					7																	65705680		2203	4300	6503	SO:0001583	missense	8460			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.268G>T	7.37:g.65705680G>T	ENSP00000302413:p.Asp90Tyr		A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510621	0.85389	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	T;T	0.46451	0.87;0.87	5.93	5.93	0.95920	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.75177	0.3814	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80605	-0.1308	10	0.66056	D	0.02	-22.6521	19.3279	0.94270	0.0:0.0:1.0:0.0	.	90;90	F5H7U7;O60507	.;TPST1_HUMAN	Y	90	ENSP00000302413:D90Y;ENSP00000391338:D90Y	ENSP00000302413:D90Y	D	+	1	0	TPST1	65343115	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	8.786000	0.91826	2.803000	0.96430	0.585000	0.79938	GAC		0.502	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		T	65705680	G	T	65705680	3	4	421	1	0	0	0	0	1	0	0	0	16432	1174	41	4	270	4	TPST1	7	65705680	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08		65705680	93432983	21	23006											
ZNF3	7551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99668973	99668973	+	Silent	SNP	G	G	C			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr7:99668973G>C	ENST00000424697.1	-	6	1440	c.1134C>G	c.(1132-1134)acC>acG	p.T378T	ZNF3_ENST00000299667.4_Silent_p.T378T|ZNF3_ENST00000303915.6_Silent_p.T378T|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	378				GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019). {ECO:0000305}.	cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.T378T(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CTGAACTGTAGGTAAACTTTC	0.502																																																1	Substitution - coding silent(1)	kidney(1)											106	115	112					7																	99668973		2202	4300	6502	SO:0001819	synonymous_variant	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.1134C>G	7.37:g.99668973G>C			D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Silent	SNP	ENST00000424697.1	37	CCDS43619.1																																																																																				0.502	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		C	99668973	G	C	99668973	2	2	421	1	0	0	0	0	0	0	0	1	17834	987	35	4		4	ZNF3	7	99668973	Silent	SNP	G	TCGA-BP-5169-01A-01D-1429-08	33963293	99668973	59469690	22	23007											
AGFG2	3268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100160277	100160277	+	Silent	SNP	C	C	T	rs146791629		TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr7:100160277C>T	ENST00000300176.4	+	8	1181	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	353					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G353G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCGGCGGCGGCGGCAGCAGCA	0.657																																																1	Substitution - coding silent(1)	kidney(1)						C		2,4402	4.2+/-10.8	0,2,2200	25	27	26		1059	-0.8	0	7	dbSNP_134	26	0,8600		0,0,4300	no	coding-synonymous	AGFG2	NM_006076.4		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		353/482	100160277	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	3268			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1059C>T	7.37:g.100160277C>T			O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	37	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	C	5.664	0.307043	0.10733	4.54E-4	0.0	ENSG00000106351	ENST00000429987	.	.	.	0.377	-0.753	0.11068	.	.	.	.	.	T	0.23492	0.0568	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	3	.	.	.	-65.4676	.	.	.	.	.	.	.	V	95	.	.	A	+	2	0	AGFG2	99998213	0.025000	0.19082	0.003000	0.11579	0.316000	0.28119	0.342000	0.19926	-0.370000	0.08016	0.271000	0.19318	GCG		0.657	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		T	100160277	C	T	100160277	2	4	421	1	0	0	0	0	0	0	0	1	381	755	27	1		1	AGFG2	7	100160277	Silent	SNP	C	TCGA-BP-5169-01A-01D-1429-08	491304	100160277	58978386	23	23008											
SSPO	23145	broad.mit.edu	37	7	149482073	149482073	+	RNA	SNP	G	G	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr7:149482073G>T	ENST00000378016.2	+	0	2861							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.A290S(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGTACTGATGGCTGTGTCTGT	0.627																																																1	Substitution - Missense(1)	kidney(1)											27	30	29					7																	149482073		2084	4202	6286			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482073G>T			Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				T	149482073	G	T	149482073	1	4	421	0	1	0	0	0	0	0	0	0	15194	1203	42	4		4	SSPO	7	149482073	RNA	SNP	G	TCGA-BP-5169-01A-01D-1429-08	49321796	149482073	9656590	24	23009											
ZNF572	137209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125989952	125989952	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr8:125989952C>G	ENST00000319286.5	+	3	1596	c.1442C>G	c.(1441-1443)gCc>gGc	p.A481G		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A481G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGCAGAAGTGCCTACCTCAGT	0.468										HNSCC(60;0.17)																																						1	Substitution - Missense(1)	kidney(1)											133	138	137					8																	125989952		2203	4300	6503	SO:0001583	missense	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1442C>G	8.37:g.125989952C>G	ENSP00000319305:p.Ala481Gly		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635844	0.47049	.	.	ENSG00000180938	ENST00000319286	T	0.60424	0.19	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.140255	0.32836	N	0.005585	T	0.46718	0.1407	L	0.27053	0.805	0.24529	N	0.994125	B	0.17465	0.022	B	0.14023	0.01	T	0.48514	-0.9029	10	0.66056	D	0.02	-1.8627	15.6104	0.76713	0.0:1.0:0.0:0.0	.	481	Q7Z3I7	ZN572_HUMAN	G	481	ENSP00000319305:A481G	ENSP00000319305:A481G	A	+	2	0	ZNF572	126059133	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.720000	0.25896	2.543000	0.85770	0.563000	0.77884	GCC		0.468	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		G	125989952	C	G	125989952	3	3	421	1	0	0	0	0	1	0	0	0	18009	739	26	4	1448	4	ZNF572	8	125989952	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08		125989952	20374070	25	23010											
CALHM1	255022	hgsc.bcm.edu	37	10	105218252	105218259	+	Frame_Shift_Del	DEL	AGCGGCCG	AGCGGCCG	-	rs4918016|rs576980684|rs386747134|rs151031063|rs2986017	byFrequency	TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	AGCGGCCG	AGCGGCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr10:105218252_105218259delAGCGGCCG	ENST00000329905.5	-	1	386_393	c.250_257delCGGCCGCT	c.(250-258)cggccgctgfs	p.RPL84fs	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	84					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CCGGCGGCCCAGCGGCCGCTTCCACTCT	0.663																																																0			GRCh37	CM082516	CALHM1	M																																				SO:0001589	frameshift_variant	255022			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.250_257delCGGCCGCT	10.37:g.105218252_105218259delAGCGGCCG	ENSP00000329926:p.Arg84fs		Q5W091	Frame_Shift_Del	DEL	ENST00000329905.5	37	CCDS7550.1																																																																																				0.663	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		-	105218259	AGCGGCCG	-	105218252	7	5	421	1	0	1	0	1	0	0	0	0	2584	188	7	0	791	0	CALHM1	10	105218252	Frame_Shift_Del	DEL	AGCGGCCG	TCGA-BP-5169-01A-01D-1429-08		105218252	30316495	26	23011											
OR5I1	10798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55703464	55703464	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr11:55703464A>C	ENST00000301532.3	-	1	412	c.413T>G	c.(412-414)aTg>aGg	p.M138R		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	138					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M138R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCCCCTAGACATCACAACTGT	0.438																																																1	Substitution - Missense(1)	kidney(1)											76	79	78					11																	55703464		2201	4295	6496	SO:0001583	missense	10798			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.413T>G	11.37:g.55703464A>C	ENSP00000301532:p.Met138Arg		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630392	0.46944	.	.	ENSG00000167825	ENST00000301532	T	0.00601	6.29	4.94	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.04634	0.0126	H	0.97852	4.09	0.36041	D	0.840122	D	0.55800	0.973	D	0.66196	0.942	T	0.01269	-1.1400	10	0.87932	D	0	.	9.1148	0.36750	0.9113:0.0:0.0887:0.0	.	138	Q13606	OR5I1_HUMAN	R	138	ENSP00000301532:M138R	ENSP00000301532:M138R	M	-	2	0	OR5I1	55460040	1.000000	0.71417	0.828000	0.32881	0.456000	0.32438	4.590000	0.61013	0.819000	0.34492	0.519000	0.50382	ATG		0.438	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		C	55703464	A	C	55703464	3	2	421	1	0	0	0	0	1	0	0	0	11166	217	8	5	534	5	OR5I1	11	55703464	Missense_Mutation	SNP	A	TCGA-BP-5169-01A-01D-1429-08		55703464	79303052	27	23012											
OR10W1	81341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	58034733	58034733	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr11:58034733C>T	ENST00000395079.2	-	1	999	c.598G>A	c.(598-600)Gtg>Atg	p.V200M		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V200M(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AAGAAAGGCACAGCAATGGCT	0.547																																																1	Substitution - Missense(1)	kidney(1)											105	88	93					11																	58034733		2201	4295	6496	SO:0001583	missense	81341			AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"GPCR / Class A : Olfactory receptors"	15139	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily W, member 1 pseudogene"	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.598G>A	11.37:g.58034733C>T	ENSP00000378516:p.Val200Met		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	c	12.45	1.941847	0.34283	.	.	ENSG00000172772	ENST00000395079	T	0.40225	1.04	5.86	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.575172	0.14732	N	0.301707	T	0.37865	0.1019	L	0.60845	1.875	0.09310	N	1	B	0.31125	0.309	B	0.33620	0.167	T	0.38394	-0.9663	10	0.66056	D	0.02	.	8.1651	0.31222	0.0:0.6231:0.1774:0.1996	.	200	Q8NGF6	O10W1_HUMAN	M	200	ENSP00000378516:V200M	ENSP00000378516:V200M	V	-	1	0	OR10W1	57791309	0.000000	0.05858	0.897000	0.35233	0.931000	0.56810	-1.527000	0.02227	0.833000	0.34828	-0.126000	0.14955	GTG		0.547	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		T	58034733	C	T	58034733	3	4	421	1	0	0	0	0	1	0	0	0	10923	478	17	2	323	2	OR10W1	11	58034733	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	2331269	58034733	76971783	28	23013											
PPFIA1	8500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	70218604	70218604	+	Silent	SNP	T	T	C			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr11:70218604T>C	ENST00000253925.7	+	23	3278	c.3063T>C	c.(3061-3063)atT>atC	p.I1021I	PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Silent_p.I1021I|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000500185.2_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1021	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.I1021I(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGTGTGGAATTATGTGCCTGA	0.323																																																1	Substitution - coding silent(1)	kidney(1)											91	96	95					11																	70218604		2200	4294	6494	SO:0001819	synonymous_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3063T>C	11.37:g.70218604T>C			A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	CCDS31627.1																																																																																				0.323	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		C	70218604	T	C	70218604	2	2	421	1	0	0	0	0	0	0	0	1	12311	1742	61	3		3	PPFIA1	11	70218604	Silent	SNP	T	TCGA-BP-5169-01A-01D-1429-08	12183871	70218604	64787912	29	23014											
CCDC89	220388	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	85396828	85396828	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr11:85396828C>T	ENST00000316398.3	-	1	492	c.346G>A	c.(346-348)Ggt>Agt	p.G116S	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	116						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G116S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTGTACTCACCCTGGGCCTTG	0.532																																																1	Substitution - Missense(1)	kidney(1)											114	89	98					11																	85396828		2203	4299	6502	SO:0001583	missense	220388			AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.346G>A	11.37:g.85396828C>T	ENSP00000320649:p.Gly116Ser			Missense_Mutation	SNP	ENST00000316398.3	37	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.437215	0.01098	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.44	-1.58	0.08479	.	0.907596	0.09432	N	0.802917	T	0.08802	0.0218	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30851	-0.9964	8	.	.	.	6.566	2.3695	0.04327	0.2379:0.0675:0.2473:0.4473	.	116	Q8N998	CCD89_HUMAN	S	116	.	.	G	-	1	0	CCDC89	85074476	0.600000	0.26899	0.001000	0.08648	0.003000	0.03518	0.852000	0.27764	-0.566000	0.06054	-1.087000	0.02190	GGT		0.532	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		T	85396828	C	T	85396828	3	4	421	1	0	0	0	0	1	0	0	0	2868	623	22	2	782	2	CCDC89	11	85396828	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	15178224	85396828	49609688	30	23015											
DDX25	29118	broad.mit.edu	37	11	125786947	125786947	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr11:125786947C>T	ENST00000263576.6	+	9	994	c.839C>T	c.(838-840)gCa>gTa	p.A280V	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	280	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.A280V(1)|p.A166V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		CTCTTTTCAGCAACCTTTGAG	0.493																																																2	Substitution - Missense(2)	kidney(2)											102	100	101					11																	125786947		2069	4206	6275	SO:0001583	missense	29118			AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.839C>T	11.37:g.125786947C>T	ENSP00000263576:p.Ala280Val		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	37	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650195	0.67472	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T;T	0.32272	1.46;2.58	5.79	5.79	0.91817	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	H	0.95780	3.72	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.50352	0.638;0.638	T	0.74598	-0.3612	10	0.87932	D	0	-7.6423	19.6367	0.95736	0.0:1.0:0.0:0.0	.	280;280	B4DHI6;Q9UHL0	.;DDX25_HUMAN	V	166;280;146	ENSP00000263576:A280V;ENSP00000436087:A146V	ENSP00000263576:A280V	A	+	2	0	DDX25	125292157	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.412000	0.80091	2.735000	0.93741	0.655000	0.94253	GCA		0.493	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		T	125786947	C	T	125786947	3	4	421	1	0	0	0	0	1	0	0	0	4354	710	25	2	873	2	DDX25	11	125786947	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	40390119	125786947	9219569	31	23016											
VWF	7450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6219564	6219564	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr12:6219564C>T	ENST00000261405.5	-	5	762	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	VWF_ENST00000572068.1_Missense_Mutation_p.E207K	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	170	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.E170K(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AAGTCATCTTCAGCAAAGATG	0.453																																																1	Substitution - Missense(1)	kidney(1)											151	152	151					12																	6219564		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.508G>A	12.37:g.6219564C>T	ENSP00000261405:p.Glu170Lys		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	26.5	4.748577	0.89753	.	.	ENSG00000110799	ENST00000261405	T	0.59906	0.23	5.81	5.81	0.92471	von Willebrand factor, type D domain (3);	0.457882	0.17387	N	0.176069	T	0.72843	0.3511	L	0.56280	1.765	0.58432	D	0.999999	P;P;D	0.64830	0.685;0.872;0.994	B;P;D	0.78314	0.26;0.615;0.991	T	0.65709	-0.6102	10	0.27785	T	0.31	.	19.0435	0.93011	0.0:1.0:0.0:0.0	.	170;207;170	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	K	170	ENSP00000261405:E170K	ENSP00000261405:E170K	E	-	1	0	VWF	6089825	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	6.355000	0.73041	2.753000	0.94483	0.655000	0.94253	GAA		0.453	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6219564	C	T	6219564	3	4	421	1	0	0	0	0	1	0	0	0	17251	835	29	2	8125	2	VWF	12	6219564	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08		6219564	127632331	32	23017											
LRRK2	120892	hgsc.bcm.edu;ucsc.edu	37	12	40702937	40702937	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr12:40702937C>A	ENST00000298910.7	+	30	4277	c.4219C>A	c.(4219-4221)Cat>Aat	p.H1407N		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1407	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.H1407N(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TACTCATCCCCATTTTATGAC	0.378																																																2	Substitution - Missense(2)	kidney(2)											96	92	93					12																	40702937		2203	4300	6503	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4219C>A	12.37:g.40702937C>A	ENSP00000298910:p.His1407Asn		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380267	0.61845	.	.	ENSG00000188906	ENST00000298910	T	0.80304	-1.36	5.63	5.63	0.86233	ROC GTPase (1);Small GTP-binding protein domain (1);Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	D	0.86314	0.5903	L	0.41632	1.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.84484	0.0607	10	0.36615	T	0.2	.	19.6816	0.95965	0.0:1.0:0.0:0.0	.	1407;1407	Q17RV3;Q5S007	.;LRRK2_HUMAN	N	1407	ENSP00000298910:H1407N	ENSP00000298910:H1407N	H	+	1	0	LRRK2	38989204	1.000000	0.71417	0.998000	0.56505	0.806000	0.45545	7.335000	0.79234	2.654000	0.90174	0.655000	0.94253	CAT		0.378	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40702937	C	A	40702937	3	1	421	1	0	0	0	0	1	0	0	0	9035	594	21	4	4337	4	LRRK2	12	40702937	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	34483373	40702937	93148958	33	23018											
CDK17	5128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96683053	96683053	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr12:96683053G>A	ENST00000261211.3	-	11	1613	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.A284V|CDK17_ENST00000543119.2_Missense_Mutation_p.A337V	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.A337V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AACTGACTTGGCTCGGGCTAG	0.443																																																1	Substitution - Missense(1)	kidney(1)											183	158	167					12																	96683053		2203	4300	6503	SO:0001583	missense	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1010C>T	12.37:g.96683053G>A	ENSP00000261211:p.Ala337Val		A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	G	35	5.523989	0.96431	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.64991	-0.13;-0.13;-0.13	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67646	0.2915	N	0.17901	0.54	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65323	0.934;0.934	T	0.72750	-0.4199	10	0.87932	D	0	-6.3589	19.2862	0.94072	0.0:0.0:1.0:0.0	.	337;337	A8K1U6;Q00537	.;CDK17_HUMAN	V	337;337;284	ENSP00000261211:A337V;ENSP00000444459:A337V;ENSP00000442926:A284V	ENSP00000261211:A337V	A	-	2	0	CDK17	95207184	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.813000	0.99286	2.621000	0.88768	0.563000	0.77884	GCC		0.443	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		A	96683053	G	A	96683053	3	1	421	1	0	0	0	0	1	0	0	0	3135	1203	42	2	627	2	CDK17	12	96683053	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	55980116	96683053	37168842	34	23019											
BCL7A	605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122492742	122492742	+	Silent	SNP	G	G	C			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr12:122492742G>C	ENST00000261822.4	+	5	677	c.471G>C	c.(469-471)tcG>tcC	p.S157S	BCL7A_ENST00000538010.1_Silent_p.S157S	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	157					negative regulation of transcription, DNA-templated (GO:0045892)			p.S157S(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CACAGTCCTCGATGGAACATT	0.552			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(17;197 467 16477 23242 44349)		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	1	Substitution - coding silent(1)	kidney(1)											125	132	130					12																	122492742		2203	4300	6503	SO:0001819	synonymous_variant	605			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.471G>C	12.37:g.122492742G>C		1519	B4DJN6|B7ZB21|Q13843|Q14CT7	Silent	SNP	ENST00000261822.4	37	CCDS53841.1																																																																																				0.552	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			C	122492742	G	C	122492742	2	2	421	1	0	0	0	0	0	0	0	1	1378	1045	37	4		4	BCL7A	12	122492742	Silent	SNP	G	TCGA-BP-5169-01A-01D-1429-08	25809689	122492742	11359153	35	23020											
C13orf23	80209	hgsc.bcm.edu;ucsc.edu	37	13	39587067	39587067	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr13:39587067delG	ENST00000352251.3	-	11	3155	c.2322delC	c.(2320-2322)ttcfs	p.F774fs	PROSER1_ENST00000350125.3_Frame_Shift_Del_p.F752fs|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	774	Ser-rich.																GAGTAACAGAGAAAAGTGAGG	0.527																																																0													119	125	123					13																	39587067		2203	4300	6503	SO:0001589	frameshift_variant	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2322delC	13.37:g.39587067delG	ENSP00000332034:p.Phe774fs		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Frame_Shift_Del	DEL	ENST00000352251.3	37	CCDS9368.2																																																																																				0.527	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		-	39587067	G	-	39587067	7	5	421	1	0	1	0	1	0	0	0	0	1723	933	33	0	524	0	C13orf23	13	39587067	Frame_Shift_Del	DEL	G	TCGA-BP-5169-01A-01D-1429-08		39587067	75582811	36	23021											
HOMEZ	57594	hgsc.bcm.edu	37	14	23745517	23745518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr14:23745517_23745518insG	ENST00000357460.5	-	2	1083_1084	c.919_920insC	c.(919-921)cagfs	p.Q307fs	HOMEZ_ENST00000431326.2_Frame_Shift_Ins_p.Q309fs|HOMEZ_ENST00000561013.1_Frame_Shift_Ins_p.Q309fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCCTAGTGGCTGGAGGGGTTTA	0.54																																																0																																										SO:0001589	frameshift_variant	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.920dupC	14.37:g.23745519_23745519dupG	ENSP00000350049:p.Gln307fs		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Frame_Shift_Ins	INS	ENST00000357460.5	37	CCDS45085.1																																																																																				0.54	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		G	23745518	-	G	23745517	7	5	421	1	0	1	1	0	0	0	0	0	7283	1580	55	0	736	0	HOMEZ	14	23745517	Frame_Shift_Ins	INS	-	TCGA-BP-5169-01A-01D-1429-08		23745517	83604023	37	23022											
GALK2	2585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49611861	49611861	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr15:49611861T>C	ENST00000560031.1	+	9	1335	c.1028T>C	c.(1027-1029)cTc>cCc	p.L343P	GALK2_ENST00000327171.3_Missense_Mutation_p.L332P|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000543495.1_3'UTR|GALK2_ENST00000544523.1_Missense_Mutation_p.L319P|GALK2_ENST00000396509.2_Missense_Mutation_p.L319P|GALK2_ENST00000559454.1_Missense_Mutation_p.L319P			Q01415	GALK2_HUMAN	galactokinase 2	343					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.L332P(1)|p.L343P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GCGCGAGTGCTCCAGTTTAAG	0.507																																																2	Substitution - Missense(2)	kidney(2)											92	84	87					15																	49611861		2196	4295	6491	SO:0001583	missense	2585				CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.1028T>C	15.37:g.49611861T>C	ENSP00000453129:p.Leu343Pro		Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550791	0.45383	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.87256	-2.23;-2.22	5.89	5.89	0.94794	.	0.119478	0.64402	D	0.000017	D	0.93288	0.7861	M	0.85859	2.78	0.80722	D	1	D;B	0.63880	0.993;0.185	P;B	0.60886	0.88;0.089	D	0.94056	0.7322	10	0.66056	D	0.02	-17.8486	16.3043	0.82842	0.0:0.0:0.0:1.0	.	343;332	Q01415;Q7Z4Q4	GALK2_HUMAN;.	P	332;343;319	ENSP00000316632:L332P;ENSP00000440312:L319P	ENSP00000316632:L332P	L	+	2	0	GALK2	47399153	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.070000	0.57548	2.231000	0.72958	0.533000	0.62120	CTC		0.507	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			C	49611861	T	C	49611861	3	2	421	1	0	0	0	0	1	0	0	0	6206	1551	54	3	1086	3	GALK2	15	49611861	Missense_Mutation	SNP	T	TCGA-BP-5169-01A-01D-1429-08		49611861	52919531	38	23023											
A2BP1	54715	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	7568337	7568337	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr16:7568337C>A	ENST00000550418.1	+	5	1204	c.216C>A	c.(214-216)caC>caA	p.H72Q	RBFOX1_ENST00000547338.1_Missense_Mutation_p.H72Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.H72Q|RBFOX1_ENST00000311745.5_Missense_Mutation_p.H92Q|RBFOX1_ENST00000535565.2_Missense_Mutation_p.H108Q|RBFOX1_ENST00000552089.1_Missense_Mutation_p.H108Q|RBFOX1_ENST00000355637.4_Missense_Mutation_p.H92Q|RBFOX1_ENST00000547372.1_Missense_Mutation_p.H115Q|RBFOX1_ENST00000422070.4_Missense_Mutation_p.H115Q|RBFOX1_ENST00000436368.2_Missense_Mutation_p.H92Q|RBFOX1_ENST00000340209.4_Missense_Mutation_p.H77Q	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	72					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.H92Q(2)|p.H72Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCAGACGCACTCCGAGCAGA	0.652																																					Ovarian(157;934 2567 15163 39509)											3	Substitution - Missense(3)	kidney(3)											111	106	107					16																	7568337		2197	4300	6497	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.216C>A	16.37:g.7568337C>A	ENSP00000450031:p.His72Gln		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158469	0.57368	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.30182	2.05;1.54;1.91;1.84;1.86;1.95;1.54;1.68;1.86;1.86;1.54	4.67	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.66939	2.045	0.52099	D	0.999944	P;D;P;D;B;D;B;P;P	0.76494	0.913;0.998;0.93;0.999;0.389;0.987;0.389;0.643;0.562	B;D;B;D;B;D;B;B;P	0.85130	0.391;0.969;0.351;0.997;0.198;0.981;0.343;0.318;0.544	T	0.49716	-0.8910	10	0.37606	T	0.19	-13.1793	13.6593	0.62357	0.0:0.9099:0.0:0.0901	.	92;108;115;92;92;92;72;72;115	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	Q	72;72;72;115;115;108;108;72;72;92;92;92;92;77	ENSP00000450402:H72Q;ENSP00000450031:H72Q;ENSP00000447753:H72Q;ENSP00000446842:H115Q;ENSP00000391269:H115Q;ENSP00000447281:H72Q;ENSP00000447717:H72Q;ENSP00000402745:H92Q;ENSP00000309117:H92Q;ENSP00000347855:H92Q;ENSP00000344196:H77Q	ENSP00000309117:H92Q	H	+	3	2	RBFOX1	7508338	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.370000	0.52372	2.129000	0.65627	0.557000	0.71058	CAC		0.652	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		A	7568337	C	A	7568337	3	1	421	1	0	0	0	0	1	0	0	0	3	564	20	4	313	4	A2BP1	16	7568337	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08		7568337	82786416	39	23024											
USP31	57478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	23079995	23079995	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr16:23079995G>T	ENST00000219689.7	-	16	3430	c.3431C>A	c.(3430-3432)cCt>cAt	p.P1144H	USP31_ENST00000567975.1_Missense_Mutation_p.P437H	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.P1144H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCTCTTCCCAGGTGGGAAAGG	0.587																																																1	Substitution - Missense(1)	kidney(1)											63	66	65					16																	23079995		2197	4300	6497	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3431C>A	16.37:g.23079995G>T	ENSP00000219689:p.Pro1144His		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251433	0.22880	.	.	ENSG00000103404	ENST00000219689	T	0.07444	3.19	5.8	2.64	0.31445	.	1.584560	0.03865	N	0.274686	T	0.08403	0.0209	N	0.14661	0.345	0.09310	N	1	B;B	0.33448	0.412;0.25	B;B	0.39379	0.125;0.298	T	0.41484	-0.9506	10	0.49607	T	0.09	-2.3607	8.0573	0.30612	0.1434:0.1313:0.7253:0.0	.	1144;437	Q70CQ4;B3KS48	UBP31_HUMAN;.	H	1144	ENSP00000219689:P1144H	ENSP00000219689:P1144H	P	-	2	0	USP31	22987496	0.348000	0.24861	0.265000	0.24526	0.736000	0.42039	3.376000	0.52417	0.801000	0.34066	0.655000	0.94253	CCT		0.587	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		T	23079995	G	T	23079995	3	4	421	1	0	0	0	0	1	0	0	0	17067	1000	35	4	631	4	USP31	16	23079995	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	15511658	23079995	67274758	40	23025											
ABCC12	94160	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	48173117	48173117	+	Missense_Mutation	SNP	G	G	A	rs141109408		TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr16:48173117G>A	ENST00000311303.3	-	5	1133	c.788C>T	c.(787-789)gCt>gTt	p.A263V	ABCC12_ENST00000416054.1_Missense_Mutation_p.A263V|ABCC12_ENST00000448542.1_Missense_Mutation_p.A263V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	263	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A263V(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCCGATGAGAGCTGTGGGCCC	0.473																																																1	Substitution - Missense(1)	kidney(1)											132	121	125					16																	48173117		2201	4300	6501	SO:0001583	missense	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.788C>T	16.37:g.48173117G>A	ENSP00000311030:p.Ala263Val		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065508	0.93898	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000416054	D;D;D	0.89196	-2.48;-2.48;-2.48	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	M	0.68952	2.095	0.80722	D	1	D;D	0.64830	0.994;0.989	D;D	0.66602	0.919;0.945	D	0.90907	0.4773	10	0.25751	T	0.34	.	18.6963	0.91601	0.0:0.0:1.0:0.0	.	263;263	Q96J65-2;Q96J65	.;MRP9_HUMAN	V	263	ENSP00000311030:A263V;ENSP00000401855:A263V;ENSP00000413046:A263V	ENSP00000311030:A263V	A	-	2	0	ABCC12	46730618	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.446000	0.80609	2.683000	0.91414	0.655000	0.94253	GCT		0.473	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		A	48173117	G	A	48173117	3	1	421	1	0	0	0	0	1	0	0	0	52	971	34	2	3391	2	ABCC12	16	48173117	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	25093122	48173117	42181636	41	23026											
CES7	221223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	55907817	55907817	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr16:55907817G>A	ENST00000290567.9	-	2	327	c.206C>T	c.(205-207)tCc>tTc	p.S69F	CES5A_ENST00000518005.1_5'UTR|CES5A_ENST00000520435.1_Missense_Mutation_p.S69F|CES5A_ENST00000521992.1_Missense_Mutation_p.S98F|CES5A_ENST00000319165.9_Missense_Mutation_p.S69F|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	69						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.S69F(1)|p.S98F(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAATCGCAGGGATCCCAGCGG	0.602																																																2	Substitution - Missense(2)	kidney(2)											78	72	74					16																	55907817		2198	4300	6498	SO:0001583	missense	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.206C>T	16.37:g.55907817G>A	ENSP00000290567:p.Ser69Phe		B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094575	0.56075	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000290567;ENST00000520435	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	5.7	1.21	0.21127	Carboxylesterase, type B (1);	0.768149	0.11565	N	0.551350	T	0.08802	0.0218	L	0.49571	1.57	0.09310	N	1	P;B	0.35894	0.526;0.396	B;B	0.37304	0.246;0.155	T	0.29397	-1.0013	10	0.87932	D	0	.	4.6796	0.12729	0.1634:0.0:0.4245:0.4121	.	69;69	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	F	98;69;69;69	ENSP00000428864:S98F;ENSP00000324271:S69F;ENSP00000290567:S69F;ENSP00000428887:S69F	ENSP00000290567:S69F	S	-	2	0	CES5A	54465318	0.073000	0.21202	0.001000	0.08648	0.111000	0.19643	2.064000	0.41432	0.411000	0.25702	0.655000	0.94253	TCC		0.602	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		A	55907817	G	A	55907817	3	1	421	1	0	0	0	0	1	0	0	0	3274	1174	41	2	1569	2	CES7	16	55907817	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	7734700	55907817	34446936	42	23027											
BCAR1	9564	broad.mit.edu;hgsc.bcm.edu	37	16	75269312	75269312	+	Missense_Mutation	SNP	C	C	A	rs540154029	byFrequency	TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr16:75269312C>A	ENST00000162330.5	-	5	1611	c.1485G>T	c.(1483-1485)gaG>gaT	p.E495D	BCAR1_ENST00000546196.1_Missense_Mutation_p.E466D|BCAR1_ENST00000535626.2_Missense_Mutation_p.E347D|BCAR1_ENST00000542031.2_Missense_Mutation_p.E493D|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.E513D|BCAR1_ENST00000538440.2_Missense_Mutation_p.E495D|BCAR1_ENST00000418647.3_Missense_Mutation_p.E541D|BCAR1_ENST00000393422.2_Missense_Mutation_p.E513D|BCAR1_ENST00000393420.6_Missense_Mutation_p.E513D	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	495	Ser-rich.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.E495D(1)|p.E513D(1)|p.E541D(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTCCTGTGGCTCAGAGGGGC	0.697													C|||	4	0.000798722	0.0	0.0	5008	,	,		15049	0.0		0.0	False		,,,				2504	0.0041															3	Substitution - Missense(3)	kidney(3)											14	17	16					16																	75269312		2176	4266	6442	SO:0001583	missense	9564			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1485G>T	16.37:g.75269312C>A	ENSP00000162330:p.Glu495Asp		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	7.230	0.599057	0.13939	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	3.97	1.76	0.24704	Serine rich protein interaction (1);	0.253027	0.30732	N	0.008993	T	0.26159	0.0638	L	0.31420	0.93	0.26936	N	0.966368	P;P;P;P;P;P;P;P;P	0.45044	0.849;0.557;0.849;0.818;0.609;0.849;0.557;0.849;0.612	D;P;D;D;P;D;P;D;P	0.70935	0.971;0.532;0.971;0.95;0.516;0.971;0.607;0.971;0.642	T	0.25572	-1.0128	10	0.07030	T	0.85	-24.3624	3.0456	0.06152	0.1807:0.5367:0.1763:0.1064	.	513;347;541;493;513;513;495;495;285	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	D	495;513;513;495;541;347;513;493;466	ENSP00000162330:E495D;ENSP00000377074:E513D;ENSP00000392708:E513D;ENSP00000443841:E495D;ENSP00000391669:E541D;ENSP00000440370:E347D;ENSP00000377072:E513D;ENSP00000440415:E493D;ENSP00000442161:E466D	ENSP00000162330:E495D	E	-	3	2	BCAR1	73826813	0.991000	0.36638	0.882000	0.34594	0.030000	0.12068	0.569000	0.23638	0.775000	0.33450	-0.514000	0.04452	GAG		0.697	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		A	75269312	C	A	75269312	3	1	421	1	0	0	0	0	1	0	0	0	1348	796	28	4	1139	4	BCAR1	16	75269312	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	19361495	75269312	15085441	43	23028											
TNK1	8711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7291994	7291994	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr17:7291994G>T	ENST00000576812.1	+	11	2131	c.1762G>T	c.(1762-1764)Gat>Tat	p.D588Y	TNK1_ENST00000570896.1_Missense_Mutation_p.D583Y|TNK1_ENST00000311668.2_Missense_Mutation_p.D583Y	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1									p.D588Y(1)|p.D588N(1)		central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCTCTTGTCCGATCCTGAGTT	0.592																																																2	Substitution - Missense(2)	kidney(2)											39	43	42					17																	7291994		1920	4147	6067	SO:0001583	missense	8711			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1762G>T	17.37:g.7291994G>T	ENSP00000459799:p.Asp588Tyr			Missense_Mutation	SNP	ENST00000576812.1	37	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598696	0.28445	.	.	ENSG00000174292	ENST00000311668	T	0.78595	-1.19	5.0	0.96	0.19631	.	0.414645	0.20788	N	0.085680	D	0.82360	0.5020	L	0.54323	1.7	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72401	-0.4305	10	0.72032	D	0.01	.	8.7905	0.34848	0.274:0.0:0.726:0.0	.	583;588	Q13470-2;Q13470	.;TNK1_HUMAN	Y	583	ENSP00000312309:D583Y	ENSP00000312309:D583Y	D	+	1	0	TNK1	7232718	0.908000	0.30866	0.003000	0.11579	0.358000	0.29455	1.707000	0.37888	0.014000	0.14944	-0.302000	0.09304	GAT		0.592	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		T	7291994	G	T	7291994	3	4	421	1	0	0	0	0	1	0	0	0	16322	1058	37	4	1785	4	TNK1	17	7291994	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08		7291994	73903216	44	23029											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11757612	11757612	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr17:11757612C>A	ENST00000262442.4	+	50	9868	c.9800C>A	c.(9799-9801)tCc>tAc	p.S3267Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.S3267Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3267	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S3267Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCCTCTGCTCCTGGGTCATC	0.547																																																1	Substitution - Missense(1)	kidney(1)											119	117	118					17																	11757612		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9800C>A	17.37:g.11757612C>A	ENSP00000262442:p.Ser3267Tyr		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406725	0.62399	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80304	-1.36;-1.36	5.55	5.55	0.83447	Dynein heavy chain, coiled coil stalk (1);	0.121587	0.56097	D	0.000022	D	0.92414	0.7592	M	0.92691	3.335	0.80722	D	1	D	0.63880	0.993	D	0.72075	0.976	D	0.93406	0.6764	10	0.87932	D	0	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	3267	Q9NYC9	DYH9_HUMAN	Y	3267;3267;1849	ENSP00000262442:S3267Y;ENSP00000414874:S3267Y	ENSP00000262442:S3267Y	S	+	2	0	DNAH9	11698337	1.000000	0.71417	0.983000	0.44433	0.281000	0.26958	7.278000	0.78587	2.885000	0.99019	0.655000	0.94253	TCC		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11757612	C	A	11757612	3	1	421	1	0	0	0	0	1	0	0	0	4610	855	30	4	9998	4	DNAH9	17	11757612	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	4465618	11757612	69437598	45	23030											
SDK2	54549	broad.mit.edu;hgsc.bcm.edu	37	17	71344797	71344797	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr17:71344797G>A	ENST00000392650.3	-	44	6106	c.6106C>T	c.(6106-6108)Ctc>Ttc	p.L2036F	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.L2017F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2036					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L2036F(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCAGGGATGAGGTCGTTGTAT	0.647																																																1	Substitution - Missense(1)	kidney(1)											76	66	69					17																	71344797		2203	4299	6502	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6106C>T	17.37:g.71344797G>A	ENSP00000376421:p.Leu2036Phe		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372943	0.82573	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.59772	0.24;0.26;1.52	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000006	T	0.54532	0.1864	L	0.44542	1.39	0.58432	D	0.999998	P;P	0.44281	0.74;0.831	B;P	0.45998	0.304;0.5	T	0.49390	-0.8945	10	0.13853	T	0.58	.	16.6634	0.85247	0.0:0.0:1.0:0.0	.	2036;2017	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	F	1660;2036;2017;1193;2036;377	ENSP00000376421:L2036F;ENSP00000373378:L2017F;ENSP00000407098:L1193F	ENSP00000324967:L2036F	L	-	1	0	SDK2	68856392	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.067000	0.71193	2.204000	0.70986	0.563000	0.77884	CTC		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71344797	G	A	71344797	3	1	421	1	0	0	0	0	1	0	0	0	13975	1000	35	2	420	2	SDK2	17	71344797	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	59587185	71344797	9850413	46	23031											
UBE2O	63893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74392798	74392798	+	Silent	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr17:74392798G>A	ENST00000319380.7	-	14	2284	c.2220C>T	c.(2218-2220)agC>agT	p.S740S	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	740					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S740S(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCGTCTCCCAGCTGTCACTAT	0.587																																																2	Substitution - coding silent(2)	kidney(2)											125	111	116					17																	74392798		2203	4300	6503	SO:0001819	synonymous_variant	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2220C>T	17.37:g.74392798G>A			A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	CCDS32742.1																																																																																				0.587	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		A	74392798	G	A	74392798	2	1	421	1	0	0	0	0	0	0	0	1	16873	962	34	2		2	UBE2O	17	74392798	Silent	SNP	G	TCGA-BP-5169-01A-01D-1429-08	3048001	74392798	6802412	47	23032											
KIAA0802	23255	broad.mit.edu	37	18	8786001	8786001	+	Missense_Mutation	SNP	G	G	T	rs373511257		TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr18:8786001G>T	ENST00000306329.11	+	6	2879	c.2879G>T	c.(2878-2880)cGc>cTc	p.R960L	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.R600L|SOGA2_ENST00000400050.3_Missense_Mutation_p.R600L|SOGA2_ENST00000359865.3_Missense_Mutation_p.R600L														p.R600L(1)									GAGAGCCTGCGCCTCCGAGCC	0.692																																																1	Substitution - Missense(1)	kidney(1)											14	16	16					18																	8786001		2190	4266	6456	SO:0001583	missense	0																														ENST00000306329.11:c.2879G>T	18.37:g.8786001G>T	ENSP00000305027:p.Arg960Leu			Missense_Mutation	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	G	8.706	0.910787	0.17833	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.39997	1.05;1.05;1.05	5.29	1.18	0.20946	.	0.583503	0.15639	N	0.251969	T	0.25865	0.0630	L	0.29908	0.895	0.26514	N	0.974546	P;P	0.42620	0.678;0.785	B;B	0.37346	0.125;0.247	T	0.12319	-1.0552	10	0.21540	T	0.41	-2.3846	9.2781	0.37711	0.5502:0.0:0.4498:0.0	.	621;600	A8MQ54;Q9Y4B5-3	.;.	L	621;600;600;600	ENSP00000429556:R600L;ENSP00000352927:R600L;ENSP00000382924:R600L	ENSP00000305027:R621L	R	+	2	0	CCDC165	8776001	0.013000	0.17824	0.000000	0.03702	0.105000	0.19272	0.808000	0.27154	-0.088000	0.12506	-0.150000	0.13652	CGC		0.692	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			T	8786001	G	T	8786001	3	4	421	1	0	0	0	0	1	0	0	0	8196	1087	38	4	1817	4	KIAA0802	18	8786001	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08		8786001	69291247	48	23033											
ALPK2	115701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	56202373	56202373	+	Silent	SNP	T	T	C			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr18:56202373T>C	ENST00000361673.3	-	5	5259	c.5046A>G	c.(5044-5046)aaA>aaG	p.K1682K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1682						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K1043K(1)|p.K1682K(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCCTGGACTTTTTCGCACAGC	0.547																																																2	Substitution - coding silent(2)	kidney(2)											71	76	74					18																	56202373		2203	4300	6503	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5046A>G	18.37:g.56202373T>C			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																				0.547	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		C	56202373	T	C	56202373	2	2	421	1	0	0	0	0	0	0	0	1	545	1838	64	3		3	ALPK2	18	56202373	Silent	SNP	T	TCGA-BP-5169-01A-01D-1429-08	47416372	56202373	21874875	49	23034											
GRIN3B	116444	hgsc.bcm.edu	37	19	1007860	1007861	+	Frame_Shift_Ins	INS	-	-	C	rs545736648	byFrequency	TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr19:1007860_1007861insC	ENST00000234389.3	+	5	2223_2224	c.2204_2205insC	c.(2203-2208)gaccccfs	p.DP735fs		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	735					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGCAGGAGCGACCCCCCCAAGC	0.708													|||unknown(ALL_OTHER_Ns)	3	0.000599042	0.0	0.0	5008	,	,		5748	0.0		0.003	False		,,,				2504	0.0															0										21,4213		0,21,2096						3.2	1			17	12,8192		0,12,4090	no	frameshift	GRIN3B	NM_138690.1		0,33,6186	A1A1,A1R,RR		0.1463,0.496,0.2653				33,12405				SO:0001589	frameshift_variant	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2211dupC	19.37:g.1007867_1007867dupC	ENSP00000234389:p.Asp735fs		Q5EAK7|Q7RTW9	Frame_Shift_Ins	INS	ENST00000234389.3	37	CCDS32861.1																																																																																				0.708	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			C	1007861	-	C	1007860	7	5	421	1	0	1	1	0	0	0	0	0	6786	275	10	0	2222	0	GRIN3B	19	1007860	Frame_Shift_Ins	INS	-	TCGA-BP-5169-01A-01D-1429-08		1007860	58121123	50	23035											
MUC16	94025	broad.mit.edu	37	19	9067792	9067792	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr19:9067792T>C	ENST00000397910.4	-	3	19857	c.19654A>G	c.(19654-19656)Acc>Gcc	p.T6552A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6554	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T6552A(2)|p.T2185A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATATCTGTGGTCTTCACTAGG	0.478																																																3	Substitution - Missense(3)	kidney(3)											88	78	81					19																	9067792		1920	4118	6038	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19654A>G	19.37:g.9067792T>C	ENSP00000381008:p.Thr6552Ala		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.068	0.198141	0.09652	.	.	ENSG00000181143	ENST00000397910	T	0.27104	1.69	1.47	1.47	0.22746	.	.	.	.	.	T	0.20659	0.0497	L	0.52573	1.65	.	.	.	B	0.24368	0.102	B	0.18263	0.021	T	0.22243	-1.0222	8	0.87932	D	0	.	5.0941	0.14723	0.0:0.0:0.0:1.0	.	6552	B5ME49	.	A	6552	ENSP00000381008:T6552A	ENSP00000381008:T6552A	T	-	1	0	MUC16	8928792	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	-0.001000	0.12947	0.944000	0.37579	0.149000	0.16113	ACC		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9067792	T	C	9067792	3	2	421	1	0	0	0	0	1	0	0	0	9975	1667	58	3	24197	3	MUC16	19	9067792	Missense_Mutation	SNP	T	TCGA-BP-5169-01A-01D-1429-08	8059932	9067792	50061191	51	23036											
YIF1B	90522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38799931	38799931	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr19:38799931T>A	ENST00000339413.6	-	3	380	c.335A>T	c.(334-336)tAc>tTc	p.Y112F	YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000591784.1_Missense_Mutation_p.Y81F|YIF1B_ENST00000392124.3_Missense_Mutation_p.Y81F|YIF1B_ENST00000591755.1_Missense_Mutation_p.Y109F|YIF1B_ENST00000329420.8_Missense_Mutation_p.Y97F|YIF1B_ENST00000592694.1_Missense_Mutation_p.Y81F|YIF1B_ENST00000592246.1_Intron|YIF1B_ENST00000337679.8_Missense_Mutation_p.Y109F	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	112						integral component of membrane (GO:0016021)		p.Y109F(1)|p.Y112F(1)|p.Y81F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CACAGCAAAGTAATACTTGAG	0.592																																																3	Substitution - Missense(3)	kidney(3)											173	169	170					19																	38799931		2203	4300	6503	SO:0001583	missense	90522			AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.335A>T	19.37:g.38799931T>A	ENSP00000343435:p.Tyr112Phe		H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP	ENST00000339413.6	37	CCDS33010.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.482954	0.63962	.	.	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000392124;ENST00000337679	T;T;T;T	0.74106	-0.41;-0.35;-0.26;-0.81	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	L	0.55213	1.73	0.58432	D	0.999999	D;D;D;D;P	0.76494	0.998;0.981;0.998;0.999;0.495	D;P;D;D;B	0.85130	0.987;0.86;0.994;0.997;0.389	T	0.82587	-0.0383	10	0.51188	T	0.08	-12.3006	12.3334	0.55051	0.0:0.0:0.0:1.0	.	81;109;109;112;109	Q5BJH7-2;Q5BJH7-5;Q5BJH7-4;Q5BJH7;Q5BJH7-3	.;.;.;YIF1B_HUMAN;.	F	112;97;81;109	ENSP00000343435:Y112F;ENSP00000329559:Y97F;ENSP00000375971:Y81F;ENSP00000337411:Y109F	ENSP00000329559:Y97F	Y	-	2	0	YIF1B	43491771	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.645000	0.61404	1.813000	0.52934	0.334000	0.21626	TAC		0.592	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557		A	38799931	T	A	38799931	3	1	421	1	0	0	0	0	1	0	0	0	17481	1638	57	5	714	5	YIF1B	19	38799931	Missense_Mutation	SNP	T	TCGA-BP-5169-01A-01D-1429-08	29732139	38799931	20329052	52	23037											
ARHGAP35	2909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47424189	47424189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr19:47424189C>T	ENST00000404338.3	+	1	2257	c.2257C>T	c.(2257-2259)Caa>Taa	p.Q753*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	753					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.Q753*(2)									GCAAATCAGTCAAGTTTTGAA	0.428																																																2	Substitution - Nonsense(2)	kidney(2)											90	87	88					19																	47424189		1944	4153	6097	SO:0001587	stop_gained	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2257C>T	19.37:g.47424189C>T	ENSP00000385720:p.Gln753*		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	39	7.511961	0.98329	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.39	5.39	0.77823	.	0.054276	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-17.1931	18.2664	0.90053	0.0:1.0:0.0:0.0	.	.	.	.	X	753	.	ENSP00000324820:Q753X	Q	+	1	0	ARHGAP35	52116029	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.920000	0.63390	2.684000	0.91462	0.655000	0.94253	CAA		0.428	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		T	47424189	C	T	47424189	4	4	421	1	0	0	0	0	0	1	0	0	6797	827	29	2	2259	2	ARHGAP35	19	47424189	Nonsense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	8624258	47424189	11704794	53	23038											
TPX2	22974	broad.mit.edu;ucsc.edu	37	20	30365398	30365398	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr20:30365398A>C	ENST00000300403.6	+	9	1367	c.839A>C	c.(838-840)gAa>gCa	p.E280A	TPX2_ENST00000340513.4_Missense_Mutation_p.E280A	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	280					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.E280A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GAATATAAGGAAGTGAACTTT	0.388																																																1	Substitution - Missense(1)	kidney(1)											132	109	117					20																	30365398		2203	4300	6503	SO:0001583	missense	22974			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.839A>C	20.37:g.30365398A>C	ENSP00000300403:p.Glu280Ala		Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.092255	0.55968	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.37752	1.18	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	L	0.46157	1.445	0.80722	D	1	P;P	0.49862	0.816;0.929	B;B	0.39299	0.1;0.296	T	0.07139	-1.0788	10	0.20046	T	0.44	-9.3842	14.841	0.70223	1.0:0.0:0.0:0.0	.	280;280	Q96RR5;Q9ULW0	.;TPX2_HUMAN	A	280	ENSP00000341145:E280A	ENSP00000300403:E280A	E	+	2	0	TPX2	29829059	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.027000	0.76463	2.161000	0.67846	0.533000	0.62120	GAA		0.388	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			C	30365398	A	C	30365398	3	2	421	1	0	0	0	0	1	0	0	0	16437	246	9	5	865	5	TPX2	20	30365398	Missense_Mutation	SNP	A	TCGA-BP-5169-01A-01D-1429-08		30365398	32660122	54	23039											
MYL9	10398	broad.mit.edu	37	20	35177531	35177531	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr20:35177531G>A	ENST00000279022.2	+	4	502	c.398G>A	c.(397-399)cGc>cAc	p.R133H	RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.R79H|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	133	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.R133H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATGGGTGACCGCTTCACAGAT	0.572																																																1	Substitution - Missense(1)	kidney(1)											102	88	93					20																	35177531		2203	4300	6503	SO:0001583	missense	10398			J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"Myosins / Light chain", "EF-hand domain containing"	15754	protein-coding gene	gene with protein product	"myosin regulatory light chain 2, smooth muscle isoform", "myosin regulatory light chain 1"	609905	"myosin, light polypeptide 9, regulatory"			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.398G>A	20.37:g.35177531G>A	ENSP00000279022:p.Arg133His		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	ENST00000279022.2	37	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516496	0.85495	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	T;T	0.79141	-1.24;-1.18	4.7	4.7	0.59300	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79627	0.4478	M	0.84156	2.68	0.80722	D	1	B;B	0.26775	0.001;0.159	B;B	0.20184	0.0;0.028	T	0.80830	-0.1207	10	0.66056	D	0.02	.	16.5838	0.84722	0.0:0.0:1.0:0.0	.	79;133	Q9BUF9;P24844	.;MYL9_HUMAN	H	133;79	ENSP00000279022:R133H;ENSP00000217313:R79H	ENSP00000279022:R133H	R	+	2	0	MYL9	34610945	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.759000	0.98931	2.317000	0.78254	0.655000	0.94253	CGC		0.572	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		A	35177531	G	A	35177531	3	1	421	1	0	0	0	0	1	0	0	0	10056	1087	38	1	408	1	MYL9	20	35177531	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	4812133	35177531	27847989	55	23040											
NTSR1	4923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	61341142	61341142	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr20:61341142G>A	ENST00000370501.3	+	1	954	c.583G>A	c.(583-585)Gcc>Acc	p.A195T		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	195					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.A195T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CATCTGGCTCGCCTCGGCCCT	0.667																																					GBM(37;400 780 6403 19663 35669)											2	Substitution - Missense(2)	lung(1)|kidney(1)											67	55	59					20																	61341142		2203	4300	6503	SO:0001583	missense	4923				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.583G>A	20.37:g.61341142G>A	ENSP00000359532:p.Ala195Thr		Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575434	0.45902	.	.	ENSG00000101188	ENST00000370501	T	0.72835	-0.69	5.15	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.272196	0.33732	N	0.004601	T	0.58466	0.2124	L	0.48642	1.525	0.36981	D	0.894291	B	0.20368	0.044	B	0.16722	0.016	T	0.57154	-0.7860	10	0.30078	T	0.28	-34.4698	7.1983	0.25866	0.0773:0.13:0.6743:0.1185	.	195	P30989	NTR1_HUMAN	T	195	ENSP00000359532:A195T	ENSP00000359532:A195T	A	+	1	0	NTSR1	60811587	0.994000	0.37717	0.995000	0.50966	0.995000	0.86356	2.210000	0.42816	1.170000	0.42753	0.561000	0.74099	GCC		0.667	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			A	61341142	G	A	61341142	3	1	421	1	0	0	0	0	1	0	0	0	10712	1087	38	1	585	1	NTSR1	20	61341142	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08	26163611	61341142	1684378	56	23041											
IL17RA	23765	hgsc.bcm.edu	37	22	17589955	17589955	+	Missense_Mutation	SNP	G	G	A	rs375421722		TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr22:17589955G>A	ENST00000319363.6	+	13	1979	c.1846G>A	c.(1846-1848)Ggc>Agc	p.G616S		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	616					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCCGGGAACCGGCATCGTGAA	0.647																																																0								G	SER/GLY	0,4364		0,0,2182	10	9	9		1846	3	0	22		9	1,8547		0,1,4273	no	missense	IL17RA	NM_014339.5	56	0,1,6455	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	616/867	17589955	1,12911	2182	4274	6456	SO:0001583	missense	23765			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1846G>A	22.37:g.17589955G>A	ENSP00000320936:p.Gly616Ser		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332649	0.60853	0.0	1.17E-4	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.08102	3.13	5.1	2.97	0.34412	.	0.421756	0.26383	N	0.024681	T	0.16041	0.0386	M	0.67953	2.075	0.09310	N	1	D;D	0.69078	0.997;0.991	P;P	0.56088	0.791;0.627	T	0.07233	-1.0783	10	0.30854	T	0.27	-25.8352	6.8933	0.24243	0.1455:0.0:0.7146:0.14	.	564;616	D3YTB4;Q96F46	.;I17RA_HUMAN	S	564;616	ENSP00000320936:G616S	ENSP00000320936:G616S	G	+	1	0	IL17RA	15969955	0.698000	0.27777	0.010000	0.14722	0.043000	0.13939	1.202000	0.32271	0.636000	0.30508	0.561000	0.74099	GGC		0.647	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		A	17589955	G	A	17589955	3	1	421	1	0	0	0	0	1	0	0	0	7641	1116	39	1	1896	1	IL17RA	22	17589955	Missense_Mutation	SNP	G	TCGA-BP-5169-01A-01D-1429-08		17589955	33714611	57	23042											
C22orf9	23313	hgsc.bcm.edu	37	22	45601731	45601731	+	Silent	SNP	C	C	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chr22:45601731C>A	ENST00000336156.5	-	3	344	c.279G>T	c.(277-279)ctG>ctT	p.L93L	KIAA0930_ENST00000443310.3_Silent_p.L75L|KIAA0930_ENST00000251993.7_Silent_p.L98L|KIAA0930_ENST00000391627.2_Silent_p.L59L	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	93								p.L98L(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CAGGGTCTCCCAGGCCTGGCA	0.647																																																1	Substitution - coding silent(1)	kidney(1)											59	53	55					22																	45601731		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.279G>T	22.37:g.45601731C>A			B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Silent	SNP	ENST00000336156.5	37	CCDS33665.1																																																																																				0.647	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		A	45601731	C	A	45601731	2	1	421	1	0	0	0	0	0	0	0	1	2153	581	21	4		4	C22orf9	22	45601731	Silent	SNP	C	TCGA-BP-5169-01A-01D-1429-08	28011776	45601731	5702835	58	23043											
GSPT2	23708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	51488138	51488138	+	Silent	SNP	T	T	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chrX:51488138T>A	ENST00000340438.4	+	1	1658	c.1416T>A	c.(1414-1416)gtT>gtA	p.V472V		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	472					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.V472V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATGTAGAAGTTCTTGGAATAC	0.433																																																1	Substitution - coding silent(1)	kidney(1)											64	56	59					X																	51488138		2203	4300	6503	SO:0001819	synonymous_variant	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1416T>A	X.37:g.51488138T>A			Q9H909|Q9NVY0|Q9NY44	Silent	SNP	ENST00000340438.4	37	CCDS14336.1																																																																																				0.433	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			A	51488138	T	A	51488138	2	1	421	1	0	0	0	0	0	0	0	1	6829	1770	62	5		5	GSPT2	23	51488138	Silent	SNP	T	TCGA-BP-5169-01A-01D-1429-08		51488138	103782422	59	23044											
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53228213	53228213	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chrX:53228213C>A	ENST00000375401.3	-	15	2721	c.2189G>T	c.(2188-2190)tGc>tTc	p.C730F	KDM5C_ENST00000404049.3_Missense_Mutation_p.C729F|KDM5C_ENST00000375379.3_Missense_Mutation_p.C730F|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375383.3_Missense_Mutation_p.C689F|KDM5C_ENST00000452825.3_Missense_Mutation_p.C663F	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	730					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.C663F(1)|p.C730F(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GTGGGAAAGGCAGACAAGGCC	0.572			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Missense(2)	kidney(2)											141	107	118					X																	53228213		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2189G>T	X.37:g.53228213C>A	ENSP00000364550:p.Cys730Phe		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.219087	0.79464	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.99791	-6.76;-6.76;-6.76;-6.76;-6.76	4.69	4.69	0.59074	Zinc finger, C5HC2-type (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	M	0.92738	3.34	0.80722	D	1	D;D;D	0.61697	0.99;0.973;0.973	D;D;D	0.69824	0.943;0.966;0.966	D	0.96827	0.9608	10	0.87932	D	0	-4.307	14.2463	0.65990	0.0:1.0:0.0:0.0	.	663;729;730	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	F	663;730;729;730;689	ENSP00000445176:C663F;ENSP00000364550:C730F;ENSP00000385394:C729F;ENSP00000364528:C730F;ENSP00000364532:C689F	ENSP00000364528:C730F	C	-	2	0	KDM5C	53244938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.716000	0.84723	1.935000	0.56089	0.519000	0.50382	TGC		0.572	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53228213	C	A	53228213	3	1	421	1	0	0	0	0	1	0	0	0	8137	710	25	4	2639	4	KDM5C	23	53228213	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	1740075	53228213	102042347	60	23045											
FAM122C	159091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	133941717	133941717	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5169-01A-01D-1429-08	TCGA-BP-5169-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3527b21e-972b-4c31-b5de-8c394ce0e500	5ea7625d-1eb6-45d7-add0-a91070f4ebcb	g.chrX:133941717C>A	ENST00000370784.4	+	1	495	c.89C>A	c.(88-90)gCc>gAc	p.A30D	FAM122C_ENST00000475361.1_3'UTR|FAM122C_ENST00000414371.2_Missense_Mutation_p.A66D|FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370785.3_Missense_Mutation_p.A30D	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	30								p.A30D(2)		endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					GTCAACAGTGCCCCTTTGATC	0.532																																																2	Substitution - Missense(2)	kidney(2)											80	68	72					X																	133941717		2203	4300	6503	SO:0001583	missense	159091			BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.89C>A	X.37:g.133941717C>A	ENSP00000359820:p.Ala30Asp		F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037388	0.54896	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.58060	0.36;0.36;0.36	4.44	-1.26	0.09376	.	0.296367	0.36200	N	0.002727	T	0.41719	0.1171	L	0.58510	1.815	0.19775	N	0.999952	B;B;B;B	0.27679	0.185;0.185;0.185;0.185	B;B;B;B	0.29716	0.106;0.106;0.106;0.106	T	0.37384	-0.9708	10	0.87932	D	0	.	3.9335	0.09296	0.1659:0.4001:0.0:0.434	.	66;30;30;30	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	D	66;30;30	ENSP00000402477:A66D;ENSP00000359820:A30D;ENSP00000359821:A30D	ENSP00000359820:A30D	A	+	2	0	FAM122C	133769383	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.231000	0.09069	-0.562000	0.06086	-0.232000	0.12228	GCC		0.532	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		A	133941717	C	A	133941717	3	1	421	1	0	0	0	0	1	0	0	0	5423	739	26	4	203	4	FAM122C	23	133941717	Missense_Mutation	SNP	C	TCGA-BP-5169-01A-01D-1429-08	80713504	133941717	21328843	61	23046											
CLSPN	63967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36230187	36230187	+	Missense_Mutation	SNP	T	T	A	rs201606744		TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr1:36230187T>A	ENST00000318121.3	-	3	319	c.262A>T	c.(262-264)Aat>Tat	p.N88Y	CLSPN_ENST00000251195.5_Missense_Mutation_p.N88Y|CLSPN_ENST00000520551.1_Missense_Mutation_p.N88Y|CLSPN_ENST00000373220.3_Missense_Mutation_p.N88Y	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	88					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.N88Y(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCTCTTTATTTTCCTCCTCG	0.373																																																2	Substitution - Missense(2)	kidney(2)											77	80	79					1																	36230187		2201	4300	6501	SO:0001583	missense	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.262A>T	1.37:g.36230187T>A	ENSP00000312995:p.Asn88Tyr		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253626	0.59212	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.24908	1.84;1.85;1.83;1.84	6.03	0.9	0.19278	.	0.581949	0.18576	N	0.137182	T	0.29556	0.0737	L	0.43152	1.355	0.21445	N	0.999689	P;D	0.57571	0.955;0.98	P;P	0.53593	0.66;0.73	T	0.09796	-1.0658	10	0.62326	D	0.03	-5.332	8.509	0.33206	0.0:0.4713:0.0:0.5287	.	88;88	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Y	88	ENSP00000251195:N88Y;ENSP00000312995:N88Y;ENSP00000362317:N88Y;ENSP00000428848:N88Y	ENSP00000251195:N88Y	N	-	1	0	CLSPN	36002774	0.951000	0.32395	0.866000	0.34008	0.952000	0.60782	0.043000	0.13971	0.125000	0.18397	0.533000	0.62120	AAT		0.373	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		A	36230187	T	A	36230187	3	1	422	1	0	0	0	0	1	0	0	0	3562	1841	64	5	3849	5	CLSPN	1	36230187	Missense_Mutation	SNP	T	TCGA-BP-5170-01A-01D-1429-08		36230187	213020434	1	23047											
TSPAN1	10103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46646810	46646810	+	Missense_Mutation	SNP	A	A	G	rs184135661		TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr1:46646810A>G	ENST00000372003.1	+	3	495	c.31A>G	c.(31-33)Atg>Gtg	p.M11V	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	11					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.M11V(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TAAGACCATGATGATCCTCTT	0.522													A|||	1	0.000199681	0.0	0.0	5008	,	,		21832	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											190	150	163					1																	46646810		2203	4300	6503	SO:0001583	missense	10103			BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"Tetraspanins"	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.31A>G	1.37:g.46646810A>G	ENSP00000361072:p.Met11Val		D3DQ14|O60745|Q5VST0	Missense_Mutation	SNP	ENST00000372003.1	37	CCDS530.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	A	20.4	3.987690	0.74589	.	.	ENSG00000117472	ENST00000372003	T	0.75938	-0.98	4.86	4.86	0.63082	.	.	.	.	.	T	0.81912	0.4923	M	0.73430	2.235	0.54753	D	0.999985	D	0.54047	0.964	P	0.55577	0.779	D	0.83669	0.0165	9	0.52906	T	0.07	.	13.7825	0.63091	1.0:0.0:0.0:0.0	.	11	O60635	TSN1_HUMAN	V	11	ENSP00000361072:M11V	ENSP00000361072:M11V	M	+	1	0	TSPAN1	46419397	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	8.136000	0.89610	2.046000	0.60703	0.379000	0.24179	ATG		0.522	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020135.1	NM_005727		G	46646810	A	G	46646810	3	3	422	1	0	0	0	0	1	0	0	0	16638	333	12	3	33	3	TSPAN1	1	46646810	Missense_Mutation	SNP	A	TCGA-BP-5170-01A-01D-1429-08	10416623	46646810	202603811	2	23048											
IL12RB2	3595	hgsc.bcm.edu;ucsc.edu	37	1	67845752	67845761	+	Frame_Shift_Del	DEL	CTGACAGCTG	CTGACAGCTG	-			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	CTGACAGCTG	CTGACAGCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr1:67845752_67845761delCTGACAGCTG	ENST00000262345.1	+	13	2441_2450	c.1801_1810delCTGACAGCTG	c.(1801-1812)ctgacagctgctfs	p.LTAA601fs	IL12RB2_ENST00000544434.1_Frame_Shift_Del_p.LTAA515fs|IL12RB2_ENST00000371000.1_Frame_Shift_Del_p.LTAA601fs|IL12RB2_ENST00000541374.1_Frame_Shift_Del_p.LTAA601fs|IL12RB2_ENST00000465396.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	601	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GATGACAGCTCTGACAGCTGCTGGTGAAAG	0.481																																																0																																										SO:0001589	frameshift_variant	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1801_1810delCTGACAGCTG	1.37:g.67845752_67845761delCTGACAGCTG	ENSP00000262345:p.Leu601fs		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Frame_Shift_Del	DEL	ENST00000262345.1	37	CCDS638.1																																																																																				0.481	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		-	67845761	CTGACAGCTG	-	67845752	7	5	422	1	0	1	0	1	0	0	0	0	7629	912	32	0	1847	0	IL12RB2	1	67845752	Frame_Shift_Del	DEL	CTGACAGCTG	TCGA-BP-5170-01A-01D-1429-08	21198942	67845752	181404869	3	23049											
ABCD3	5825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94953300	94953300	+	Silent	SNP	T	T	C			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr1:94953300T>C	ENST00000370214.4	+	12	1042	c.1018T>C	c.(1018-1020)Ttg>Ctg	p.L340L	ABCD3_ENST00000536817.1_Silent_p.L267L|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Silent_p.L364L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	340	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.L340L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTCTTAGATTTGTCTCATCC	0.358																																																1	Substitution - coding silent(1)	kidney(1)											169	150	157					1																	94953300		2203	4300	6503	SO:0001819	synonymous_variant	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1018T>C	1.37:g.94953300T>C			D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	CCDS749.1																																																																																				0.358	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		C	94953300	T	C	94953300	2	2	422	1	0	0	0	0	0	0	0	1	62	1838	64	3		3	ABCD3	1	94953300	Silent	SNP	T	TCGA-BP-5170-01A-01D-1429-08	27107548	94953300	154297321	4	23050											
S100A5	6276	hgsc.bcm.edu;ucsc.edu	37	1	153509895	153509895	+	Silent	SNP	G	G	A	rs3795395	byFrequency	TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr1:153509895G>A	ENST00000368718.1	-	4	437	c.156C>T	c.(154-156)atC>atT	p.I52I	S100A6_ENST00000368720.2_5'Flank|S100A6_ENST00000496817.1_5'Flank|S100A5_ENST00000368717.2_Silent_p.I52I|BX470102.3_ENST00000420695.1_RNA|S100A6_ENST00000368719.4_5'Flank|S100A5_ENST00000359215.1_Silent_p.I70I	NM_002962.1	NP_002953.2	P33763	S10A5_HUMAN	S100 calcium binding protein A5	52	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					neuronal cell body (GO:0043025)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAAGTCATCGATGCTGCTCT	0.572													G|||	47	0.00938498	0.0	0.0	5008	,	,		20524	0.0456		0.0	False		,,,				2504	0.001															0													235	195	209					1																	153509895		2203	4300	6503	SO:0001819	synonymous_variant	6276			Z18954	CCDS1041.1, CCDS1041.2	1q21	2013-01-10	2001-11-28		ENSG00000196420	ENSG00000196420		"S100 calcium binding proteins", "EF-hand domain containing"	10495	protein-coding gene	gene with protein product		176991	"S100 calcium-binding protein A5"	S100D		8341667	Standard	NM_002962		Approved		uc001fbx.3	P33763	OTTHUMG00000013547	ENST00000368718.1:c.156C>T	1.37:g.153509895G>A			Q52LE7|Q5RHS3	Silent	SNP	ENST00000368718.1	37	CCDS1041.2																																																																																				0.572	S100A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037719.1	NM_002962		A	153509895	G	A	153509895	2	1	422	1	0	0	0	0	0	0	0	1	13787	1048	37	1		1	S100A5	1	153509895	Silent	SNP	G	TCGA-BP-5170-01A-01D-1429-08	58556595	153509895	95740726	5	23051											
ISG20L2	81875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156697247	156697247	+	Silent	SNP	C	C	T	rs61742814	byFrequency	TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr1:156697247C>T	ENST00000313146.6	-	1	980	c.198G>A	c.(196-198)acG>acA	p.T66T	RRNAD1_ENST00000368216.4_5'Flank|ISG20L2_ENST00000368219.1_Silent_p.T66T|RRNAD1_ENST00000368218.4_5'Flank|RRNAD1_ENST00000524343.1_5'Flank|ISG20L2_ENST00000472824.2_5'Flank	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	66					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)	p.T66T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCCATCGACCGTAGGAGTTT	0.512													C|||	3	0.000599042	0.0	0.0	5008	,	,		17950	0.0		0.0	False		,,,				2504	0.0031															1	Substitution - coding silent(1)	kidney(1)											66	74	72					1																	156697247		2203	4300	6503	SO:0001819	synonymous_variant	81875			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.198G>A	1.37:g.156697247C>T			D3DVC6|Q64KA2	Silent	SNP	ENST00000313146.6	37	CCDS1153.1																																																																																				0.512	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		T	156697247	C	T	156697247	2	4	422	1	0	0	0	0	0	0	0	1	7857	639	23	1		1	ISG20L2	1	156697247	Silent	SNP	C	TCGA-BP-5170-01A-01D-1429-08	3187352	156697247	92553374	6	23052											
APOB	338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	21225774	21225774	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr2:21225774C>T	ENST00000233242.1	-	29	12647	c.12520G>A	c.(12520-12522)Ggc>Agc	p.G4174S	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4174					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G4174S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTACCAAGCCATCAAACACG	0.463																																																1	Substitution - Missense(1)	kidney(1)											82	78	79					2																	21225774		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12520G>A	2.37:g.21225774C>T	ENSP00000233242:p.Gly4174Ser		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	3.919	-0.018444	0.07681	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00649	5.98	5.99	-5.58	0.02512	.	1.083110	0.06948	N	0.813996	T	0.00210	0.0006	N	0.00729	-1.24	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.45948	-0.9226	10	0.02654	T	1	.	4.5665	0.12189	0.1116:0.4764:0.1136:0.2983	.	4174	P04114	APOB_HUMAN	S	4174	ENSP00000233242:G4174S	ENSP00000233242:G4174S	G	-	1	0	APOB	21079279	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.268000	0.08607	-0.433000	0.07286	-0.290000	0.09829	GGC		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21225774	C	T	21225774	3	4	422	1	0	0	0	0	1	0	0	0	785	594	21	2	1175	2	APOB	2	21225774	Missense_Mutation	SNP	C	TCGA-BP-5170-01A-01D-1429-08		21225774	221973599	7	23053											
RANBP2	5903	broad.mit.edu;hgsc.bcm.edu	37	2	109384150	109384150	+	Silent	SNP	A	A	G			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr2:109384150A>G	ENST00000283195.6	+	20	7281	c.7155A>G	c.(7153-7155)agA>agG	p.R2385R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2385	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R2385R(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAATCACAGAATAACTCCAG	0.363																																																2	Substitution - coding silent(2)	kidney(2)											125	142	136					2																	109384150		2153	4171	6324	SO:0001819	synonymous_variant	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7155A>G	2.37:g.109384150A>G			Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	CCDS2079.1																																																																																				0.363	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		G	109384150	A	G	109384150	2	3	422	1	0	0	0	0	0	0	0	1	13034	243	9	3		3	RANBP2	2	109384150	Silent	SNP	A	TCGA-BP-5170-01A-01D-1429-08	88158376	109384150	133815223	8	23054											
SCG2	7857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	224463043	224463043	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr2:224463043C>A	ENST00000305409.2	-	2	1190	c.958G>T	c.(958-960)Gct>Tct	p.A320S		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.A320S(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTTCCTGCAGCATTTACTAAC	0.433																																																1	Substitution - Missense(1)	kidney(1)											132	135	134					2																	224463043		2203	4300	6503	SO:0001583	missense	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.958G>T	2.37:g.224463043C>A	ENSP00000304133:p.Ala320Ser		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	5.032	0.191501	0.09547	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01745	4.66	5.6	4.7	0.59300	.	0.332965	0.31760	N	0.007111	T	0.01189	0.0039	N	0.16478	0.41	0.20563	N	0.999884	B	0.18610	0.029	B	0.14023	0.01	T	0.48559	-0.9025	10	0.09338	T	0.73	.	7.0092	0.24853	0.0:0.698:0.1531:0.1489	.	320	P13521	SCG2_HUMAN	S	320;180	ENSP00000304133:A320S	ENSP00000304133:A320S	A	-	1	0	SCG2	224171287	0.046000	0.20272	0.704000	0.30370	0.937000	0.57800	1.862000	0.39448	1.323000	0.45263	0.650000	0.86243	GCT		0.433	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		A	224463043	C	A	224463043	3	1	422	1	0	0	0	0	1	0	0	0	13897	710	25	4	899	4	SCG2	2	224463043	Missense_Mutation	SNP	C	TCGA-BP-5170-01A-01D-1429-08	115078893	224463043	18736330	9	23055											
VHL	7428	ucsc.edu	37	3	10188190	10188196	+	Splice_Site	DEL	CCCGATA	CCCGATA	-	rs372340900|rs191201783	byFrequency	TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	CCCGATA	CCCGATA	CCCGATA	-	CCCGATA	CCCGATA	Unknown	Valid	Somatic	.	WXS	PGM	.		Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr3:10188190_10188196delCCCGATA	ENST00000256474.2	+	2	1180		c.e2-1		VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(9)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTTTGCTTGTCCCGATAGGTCACCTTT	0.541		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Unknown(9)	kidney(9)	GRCh37	CS071275	VHL	S																																				SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.341-1CCCGATA>-	3.37:g.10188190_10188196delCCCGATA			B2RE45|Q13599|Q6PDA9	Splice_Site	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.541	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	-	10188196	CCCGATA	-	10188190	8	5	422	1	0	1	0	1	0	0	1	0	17167	870	30	0		0	VHL	3	10188190	Splice_Site	DEL	CCCGATA	TCGA-BP-5170-01A-01D-1429-08		10188190	187834240	10	23056											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52668655	52668655	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr3:52668655G>A	ENST00000296302.7	-	11	1265	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q390*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q422*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q422*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q422*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q422*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q422*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q422*			Q86U86	PB1_HUMAN	polybromo 1	422	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q422*(2)|p.Q390*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTAATTTGCTGGTAATAATCA	0.363			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											156	178	171					3																	52668655		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1264C>T	3.37:g.52668655G>A	ENSP00000296302:p.Gln422*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	38	6.808166	0.97853	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.68	5.68	0.88126	.	0.130229	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-41.2192	19.7907	0.96456	0.0:0.0:1.0:0.0	.	.	.	.	X	390;422;422;422;422;422;422;422;422;366	.	ENSP00000296302:Q422X	Q	-	1	0	PBRM1	52643695	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.686000	0.91538	0.491000	0.48974	CAG		0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52668655	G	A	52668655	4	1	422	1	0	0	0	0	0	1	0	0	11493	1357	47	2	3716	2	PBRM1	3	52668655	Nonsense_Mutation	SNP	G	TCGA-BP-5170-01A-01D-1429-08	42480465	52668655	145353775	11	23057											
CACNA1D	776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53844188	53844188	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr3:53844188C>A	ENST00000350061.5	+	47	6566	c.6055C>A	c.(6055-6057)Ctg>Atg	p.L2019M	CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000288139.4_Missense_Mutation_p.L2039M|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1995M	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2019					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.L2039M(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTGCCGTCCCTGCACCGCAG	0.627																																																1	Substitution - Missense(1)	kidney(1)											56	55	56					3																	53844188		2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6055C>A	3.37:g.53844188C>A	ENSP00000288133:p.Leu2019Met		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146377	0.57044	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.34	4.45	0.53987	.	0.209202	0.29900	N	0.010915	T	0.47801	0.1465	L	0.57536	1.79	0.80722	D	1	B;B;P;B	0.40909	0.319;0.107;0.732;0.264	B;B;B;B	0.40165	0.066;0.027;0.321;0.045	T	0.43988	-0.9357	10	0.35671	T	0.21	.	10.3675	0.44033	0.0:0.8316:0.0:0.1684	.	1995;1712;2019;2039	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	M	2019;2039;1995;1712	ENSP00000288133:L2019M;ENSP00000288139:L2039M;ENSP00000409174:L1995M;ENSP00000418014:L1712M	ENSP00000288139:L2039M	L	+	1	2	CACNA1D	53819228	0.965000	0.33210	1.000000	0.80357	0.775000	0.43874	1.204000	0.32296	2.672000	0.90937	0.557000	0.71058	CTG		0.627	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		A	53844188	C	A	53844188	3	1	422	1	0	0	0	0	1	0	0	0	2543	680	24	4	6413	4	CACNA1D	3	53844188	Missense_Mutation	SNP	C	TCGA-BP-5170-01A-01D-1429-08	1175533	53844188	144178242	12	23058											
PIK3R4	30849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130454821	130454821	+	Silent	SNP	T	T	C			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr3:130454821T>C	ENST00000356763.3	-	3	1316	c.759A>G	c.(757-759)acA>acG	p.T253T		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T253T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTACACCTTCTGTAAAAAGCT	0.318																																																1	Substitution - coding silent(1)	kidney(1)											102	109	107					3																	130454821		2203	4299	6502	SO:0001819	synonymous_variant	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.759A>G	3.37:g.130454821T>C			Q2TBF4	Silent	SNP	ENST00000356763.3	37	CCDS3067.1																																																																																				0.318	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		C	130454821	T	C	130454821	2	2	422	1	0	0	0	0	0	0	0	1	11923	1567	55	3		3	PIK3R4	3	130454821	Silent	SNP	T	TCGA-BP-5170-01A-01D-1429-08	76610633	130454821	67567609	13	23059											
TBC1D19	55296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	26741524	26741524	+	Silent	SNP	T	T	C			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr4:26741524T>C	ENST00000264866.4	+	17	1434	c.1156T>C	c.(1156-1158)Ttg>Ctg	p.L386L	TBC1D19_ENST00000511789.1_Silent_p.L321L	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	386	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.L386L(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				ACCTTCCAAATTGTATCAGAT	0.303																																																1	Substitution - coding silent(1)	kidney(1)											192	181	185					4																	26741524		2202	4299	6501	SO:0001819	synonymous_variant	55296			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1156T>C	4.37:g.26741524T>C			B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	CCDS3439.1																																																																																				0.303	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		C	26741524	T	C	26741524	2	2	422	1	0	0	0	0	0	0	0	1	15612	1490	52	3		3	TBC1D19	4	26741524	Silent	SNP	T	TCGA-BP-5170-01A-01D-1429-08		26741524	164412752	14	23060											
DCTD	1635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	183836682	183836682	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr4:183836682C>T	ENST00000438320.2	-	2	330	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	DCTD_ENST00000510370.1_Missense_Mutation_p.E14K|DCTD_ENST00000357067.3_Missense_Mutation_p.E25K|DCTD_ENST00000513383.1_5'UTR	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	14					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)	p.E14K(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	TCTGGCCATTCCAAATAGTCG	0.403																																																1	Substitution - Missense(1)	kidney(1)											126	139	135					4																	183836682		2203	4300	6503	SO:0001583	missense	1635			L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.40G>A	4.37:g.183836682C>T	ENSP00000398194:p.Glu14Lys		B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	ENST00000438320.2	37	CCDS3831.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883453	0.72410	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182;ENST00000510307;ENST00000512766;ENST00000514754;ENST00000503820;ENST00000503988;ENST00000508994	T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.7	3.85	0.44370	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.048716	0.85682	D	0.000000	T	0.25975	0.0633	N	0.05414	-0.055	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.004	T	0.07347	-1.0777	10	0.62326	D	0.03	-29.3648	15.2677	0.73675	0.0:0.8591:0.1409:0.0	.	25;14	P32321-2;P32321	.;DCTD_HUMAN	K	25;14;14;14;14;14;14;14;14;14	ENSP00000349576:E25K;ENSP00000398194:E14K;ENSP00000424017:E14K;ENSP00000422662:E14K;ENSP00000424050:E14K;ENSP00000423182:E14K;ENSP00000423894:E14K;ENSP00000421792:E14K;ENSP00000422729:E14K	ENSP00000349576:E25K	E	-	1	0	DCTD	184073676	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.565000	0.67365	1.317000	0.45149	0.655000	0.94253	GAA		0.403	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2			T	183836682	C	T	183836682	3	4	422	1	0	0	0	0	1	0	0	0	4307	864	30	2	516	2	DCTD	4	183836682	Missense_Mutation	SNP	C	TCGA-BP-5170-01A-01D-1429-08	157095158	183836682	7317594	15	23061											
ZNF622	90441	hgsc.bcm.edu;ucsc.edu	37	5	16465400	16465400	+	Missense_Mutation	SNP	C	C	G	rs113566156	byFrequency	TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr5:16465400C>G	ENST00000308683.2	-	1	501	c.375G>C	c.(373-375)aaG>aaC	p.K125N		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	125					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K125N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCATGGCATCCTTGTCCACAC	0.577																																																1	Substitution - Missense(1)	kidney(1)											162	148	153					5																	16465400		2203	4300	6503	SO:0001583	missense	90441			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.375G>C	5.37:g.16465400C>G	ENSP00000310042:p.Lys125Asn			Missense_Mutation	SNP	ENST00000308683.2	37	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676684	0.47886	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.88	4.02	0.46733	.	0.202317	0.51477	D	0.000088	T	0.46600	0.1401	M	0.74881	2.28	0.54753	D	0.999982	P	0.43094	0.799	B	0.38562	0.276	T	0.43442	-0.9391	9	0.30854	T	0.27	-10.0841	5.555	0.17111	0.0:0.6678:0.0:0.3322	.	125	Q969S3	ZN622_HUMAN	N	125	.	ENSP00000310042:K125N	K	-	3	2	ZNF622	16518400	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.743000	0.26231	1.278000	0.44430	0.650000	0.86243	AAG		0.577	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		G	16465400	C	G	16465400	3	3	422	1	0	0	0	0	1	0	0	0	18051	680	24	4	1082	4	ZNF622	5	16465400	Missense_Mutation	SNP	C	TCGA-BP-5170-01A-01D-1429-08		16465400	164449860	16	23062											
PRR16	51334	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	120021872	120021872	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr5:120021872G>T	ENST00000407149.2	+	2	592	c.383G>T	c.(382-384)aGg>aTg	p.R128M	PRR16_ENST00000446965.1_Missense_Mutation_p.R58M|PRR16_ENST00000505123.1_Missense_Mutation_p.R58M|PRR16_ENST00000379551.2_Missense_Mutation_p.R105M			Q569H4	LARGN_HUMAN	proline rich 16	128	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.R105M(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCTCCTCCAAGGTTGACACCT	0.517																																																1	Substitution - Missense(1)	kidney(1)											122	105	111					5																	120021872		2203	4300	6503	SO:0001583	missense	51334			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.383G>T	5.37:g.120021872G>T	ENSP00000385118:p.Arg128Met		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37		.	.	.	.	.	.	.	.	.	.	G	22.2	4.259174	0.80246	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	L	0.59436	1.845	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.964	T	0.62586	-0.6823	9	.	.	.	-5.1224	18.6986	0.91611	0.0:0.0:1.0:0.0	.	128;105	Q569H4;Q569H4-3	PRR16_HUMAN;.	M	128;105;58;58;58	ENSP00000385118:R128M;ENSP00000368869:R105M;ENSP00000421256:R58M;ENSP00000423446:R58M;ENSP00000405491:R58M	.	R	+	2	0	PRR16	120049771	1.000000	0.71417	0.966000	0.40874	0.978000	0.69477	9.111000	0.94308	2.709000	0.92574	0.644000	0.83932	AGG		0.517	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		T	120021872	G	T	120021872	3	4	422	1	0	0	0	0	1	0	0	0	12594	1000	35	4	320	4	PRR16	5	120021872	Missense_Mutation	SNP	G	TCGA-BP-5170-01A-01D-1429-08	103556472	120021872	60893388	17	23063											
RNF145	153830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	158603687	158603687	+	Silent	SNP	A	A	G			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr5:158603687A>G	ENST00000424310.2	-	5	933	c.574T>C	c.(574-576)Ttg>Ctg	p.L192L	RNF145_ENST00000520638.1_Silent_p.L206L|RNF145_ENST00000521606.2_Silent_p.L209L|RNF145_ENST00000518802.1_Silent_p.L222L|RNF145_ENST00000519865.1_Silent_p.L192L|RNF145_ENST00000274542.2_Silent_p.L220L	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	192						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L220L(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAGGTACCAAAAGATTAGAC	0.343																																																1	Substitution - coding silent(1)	kidney(1)											62	61	62					5																	158603687		2203	4300	6503	SO:0001819	synonymous_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.574T>C	5.37:g.158603687A>G			B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	CCDS56390.1																																																																																				0.343	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		G	158603687	A	G	158603687	2	3	422	1	0	0	0	0	0	0	0	1	13453	11	1	3		3	RNF145	5	158603687	Silent	SNP	A	TCGA-BP-5170-01A-01D-1429-08	38581815	158603687	22311573	18	23064											
UIMC1	51720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176332369	176332369	+	Silent	SNP	A	A	G			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr5:176332369A>G	ENST00000377227.4	-	15	2206	c.2074T>C	c.(2074-2076)Tta>Cta	p.L692L	UIMC1_ENST00000511320.1_Silent_p.L692L|UIMC1_ENST00000377219.2_Silent_p.L693L|UIMC1_ENST00000506128.1_Silent_p.L526L			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	692					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.L692L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGTCCACTAAGCAATCTGTG	0.463																																																1	Substitution - coding silent(1)	kidney(1)											96	100	99					5																	176332369		2203	4300	6503	SO:0001819	synonymous_variant	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.2074T>C	5.37:g.176332369A>G			A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Silent	SNP	ENST00000377227.4	37	CCDS4408.1																																																																																				0.463	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		G	176332369	A	G	176332369	2	3	422	1	0	0	0	0	0	0	0	1	16976	69	3	3		3	UIMC1	5	176332369	Silent	SNP	A	TCGA-BP-5170-01A-01D-1429-08	17728682	176332369	4582891	19	23065											
RREB1	6239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7231393	7231393	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr6:7231393T>A	ENST00000349384.6	+	10	3375	c.3061T>A	c.(3061-3063)Tca>Aca	p.S1021T	RREB1_ENST00000334984.6_Missense_Mutation_p.S1021T|RREB1_ENST00000379938.2_Missense_Mutation_p.S1021T|RREB1_ENST00000379933.3_Missense_Mutation_p.S1021T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1021	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1021T(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AATCTACTCCTCAGCCCTGGT	0.687																																																2	Substitution - Missense(2)	kidney(2)											23	27	26					6																	7231393		2201	4288	6489	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3061T>A	6.37:g.7231393T>A	ENSP00000305560:p.Ser1021Thr		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885299	0.51908	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.10477	2.99;2.95;2.99;2.87	5.59	3.16	0.36331	.	0.240037	0.27782	N	0.017873	T	0.02610	0.0079	L	0.57536	1.79	0.24058	N	0.996029	P;P;P	0.41848	0.729;0.682;0.763	B;B;B	0.35770	0.21;0.142;0.153	T	0.37337	-0.9710	10	0.13853	T	0.58	-12.8381	4.7674	0.13139	0.0:0.4532:0.0:0.5468	.	1021;1021;1021	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	T	1021	ENSP00000369265:S1021T;ENSP00000369270:S1021T;ENSP00000305560:S1021T;ENSP00000335574:S1021T	ENSP00000335574:S1021T	S	+	1	0	RREB1	7176392	0.998000	0.40836	0.148000	0.22405	0.932000	0.56968	3.551000	0.53698	0.903000	0.36546	0.533000	0.62120	TCA		0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			A	7231393	T	A	7231393	3	1	422	1	0	0	0	0	1	0	0	0	13685	1551	54	5	3087	5	RREB1	6	7231393	Missense_Mutation	SNP	T	TCGA-BP-5170-01A-01D-1429-08		7231393	163883674	20	23066											
MOXD1	26002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132643865	132643865	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr6:132643865T>C	ENST00000367963.3	-	8	1376	c.1258A>G	c.(1258-1260)Aat>Gat	p.N420D	MOXD1_ENST00000336749.3_Missense_Mutation_p.N352D|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	420						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.N420D(1)|p.N352D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCCTGGAAATTGAAGTCAAAA	0.383																																																2	Substitution - Missense(2)	kidney(2)											118	121	120					6																	132643865		2203	4300	6503	SO:0001583	missense	26002			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1258A>G	6.37:g.132643865T>C	ENSP00000356940:p.Asn420Asp		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245859	0.80024	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.76839	-1.05;-1.05	5.78	5.78	0.91487	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	L	0.49571	1.57	0.80722	D	1	P;D	0.71674	0.867;0.998	P;D	0.80764	0.874;0.994	T	0.80379	-0.1407	10	0.36615	T	0.2	-31.5304	16.1008	0.81169	0.0:0.0:0.0:1.0	.	420;352	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	D	420;352	ENSP00000356940:N420D;ENSP00000336998:N352D	ENSP00000336998:N352D	N	-	1	0	MOXD1	132685558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.742000	0.74843	2.206000	0.71126	0.533000	0.62120	AAT		0.383	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		C	132643865	T	C	132643865	3	2	422	1	0	0	0	0	1	0	0	0	9722	1812	63	3	603	3	MOXD1	6	132643865	Missense_Mutation	SNP	T	TCGA-BP-5170-01A-01D-1429-08	125412472	132643865	38471202	21	23067											
CDK6	1021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92252376	92252376	+	Silent	SNP	A	A	G			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr7:92252376A>G	ENST00000265734.4	-	6	1083	c.672T>C	c.(670-672)gaT>gaC	p.D224D	CDK6_ENST00000424848.2_Silent_p.D224D	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.D224D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GTTGATCAACATCTGAACTTC	0.299			T	MLLT10	ALL																																		Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	1	Substitution - coding silent(1)	kidney(1)											51	52	52					7																	92252376		2198	4296	6494	SO:0001819	synonymous_variant	1021				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"Cyclin-dependent kinases"	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.672T>C	7.37:g.92252376A>G			A4D1G0	Silent	SNP	ENST00000265734.4	37	CCDS5628.1																																																																																				0.299	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2			G	92252376	A	G	92252376	2	3	422	1	0	0	0	0	0	0	0	1	3150	214	8	3		3	CDK6	7	92252376	Silent	SNP	A	TCGA-BP-5170-01A-01D-1429-08		92252376	66886287	22	23068											
FOXP2	93986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	114282567	114282567	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr7:114282567C>T	ENST00000393494.2	+	7	1157	c.878C>T	c.(877-879)aCt>aTt	p.T293I	FOXP2_ENST00000350908.4_Missense_Mutation_p.T293I|FOXP2_ENST00000393500.3_Missense_Mutation_p.T218I|FOXP2_ENST00000393489.3_Missense_Mutation_p.T201I|FOXP2_ENST00000378237.3_Missense_Mutation_p.T293I|FOXP2_ENST00000390668.3_Missense_Mutation_p.T317I|FOXP2_ENST00000408937.3_Missense_Mutation_p.T318I|FOXP2_ENST00000393498.2_Missense_Mutation_p.T272I|FOXP2_ENST00000360232.4_Missense_Mutation_p.T293I|FOXP2_ENST00000403559.4_Missense_Mutation_p.T310I|FOXP2_ENST00000393491.3_Missense_Mutation_p.T201I			O15409	FOXP2_HUMAN	forkhead box P2	293				DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439). {ECO:0000305}.	camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T318I(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GACCTCACTACTAACAATTCC	0.443																																																1	Substitution - Missense(1)	kidney(1)											240	209	220					7																	114282567		2203	4300	6503	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.878C>T	7.37:g.114282567C>T	ENSP00000377132:p.Thr293Ile		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686127	0.88639	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000393495;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.32;1.21;1.21;1.32;1.32;1.32;1.32;1.21;1.32	4.86	4.86	0.63082	.	0.090253	0.85682	D	0.000000	T	0.60077	0.2241	M	0.65975	2.015	0.80722	D	1	D;D;D;P;D;D;D	0.69078	0.995;0.995;0.984;0.936;0.997;0.995;0.997	D;D;D;P;D;D;D	0.75484	0.969;0.969;0.969;0.55;0.986;0.969;0.986	T	0.64170	-0.6470	10	0.72032	D	0.01	.	18.3604	0.90372	0.0:1.0:0.0:0.0	.	292;310;201;293;317;293;318	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	I	218;293;318;310;293;270;293;201;293;150;317;201	ENSP00000377137:T218I;ENSP00000377132:T293I;ENSP00000386200:T318I;ENSP00000385069:T310I;ENSP00000265436:T293I;ENSP00000367482:T293I;ENSP00000377129:T201I;ENSP00000353367:T293I;ENSP00000375084:T317I;ENSP00000377130:T201I	ENSP00000265436:T293I	T	+	2	0	FOXP2	114069803	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.442000	0.80503	2.410000	0.81850	0.460000	0.39030	ACT		0.443	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		T	114282567	C	T	114282567	3	4	422	1	0	0	0	0	1	0	0	0	6029	565	20	2	1034	2	FOXP2	7	114282567	Missense_Mutation	SNP	C	TCGA-BP-5170-01A-01D-1429-08	22030191	114282567	44856096	23	23069											
ADAM9	8754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38899622	38899622	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr8:38899622T>A	ENST00000487273.2	+	12	1366	c.1288T>A	c.(1288-1290)Tgt>Agt	p.C430S		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	430	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.C430S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGAGTGTGACTGTGGTACTCC	0.413																																																1	Substitution - Missense(1)	kidney(1)											96	92	93					8																	38899622		2203	4300	6503	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1288T>A	8.37:g.38899622T>A	ENSP00000419446:p.Cys430Ser		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.897234	0.91962	.	.	ENSG00000168615	ENST00000487273	T	0.15487	2.42	6.16	6.16	0.99307	Blood coagulation inhibitor, Disintegrin (4);	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72033	-0.4412	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	430	Q13443	ADAM9_HUMAN	S	430	ENSP00000419446:C430S	ENSP00000369249:C430S	C	+	1	0	ADAM9	39018779	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.904000	0.87408	2.367000	0.80283	0.528000	0.53228	TGT		0.413	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			A	38899622	T	A	38899622	3	1	422	1	0	0	0	0	1	0	0	0	253	1580	55	5	1334	5	ADAM9	8	38899622	Missense_Mutation	SNP	T	TCGA-BP-5170-01A-01D-1429-08		38899622	107464400	24	23070											
DCAF13	25879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	104438314	104438314	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr8:104438314A>G	ENST00000297579.5	+	4	1142	c.865A>G	c.(865-867)Aaa>Gaa	p.K289E	DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000519682.1_Missense_Mutation_p.K133E|DCAF13_ENST00000521971.1_Missense_Mutation_p.K97E	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	137					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.K289E(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GAAGCAGTGGAAAATGGATGG	0.348																																																1	Substitution - Missense(1)	kidney(1)											77	79	78					8																	104438314		2203	4300	6503	SO:0001583	missense	25879			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.865A>G	8.37:g.104438314A>G	ENSP00000297579:p.Lys289Glu		Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790738	0.50102	.	.	ENSG00000164934	ENST00000297579;ENST00000521971;ENST00000519682	T;T;T	0.60299	0.2;5.03;0.2	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.152104	0.64402	D	0.000011	T	0.44329	0.1288	N	0.25245	0.725	0.58432	D	0.999999	B;B	0.20368	0.003;0.044	B;B	0.24974	0.017;0.057	T	0.37911	-0.9685	10	0.44086	T	0.13	-25.3125	11.0094	0.47654	0.861:0.0:0.0:0.1389	.	137;137	B3KME9;Q9NV06	.;DCA13_HUMAN	E	289;97;133	ENSP00000297579:K289E;ENSP00000430883:K97E;ENSP00000430411:K133E	ENSP00000297579:K289E	K	+	1	0	DCAF13	104507490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.839000	0.62810	2.147000	0.66899	0.533000	0.62120	AAA		0.348	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		G	104438314	A	G	104438314	3	3	422	1	0	0	0	0	1	0	0	0	4268	247	9	3	879	3	DCAF13	8	104438314	Missense_Mutation	SNP	A	TCGA-BP-5170-01A-01D-1429-08	65538692	104438314	41925708	25	23071											
ERP44	23071	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	102822388	102822388	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr9:102822388delT	ENST00000262455.6	-	2	323	c.124delA	c.(124-126)attfs	p.I42fs		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	42	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TTACTTAAAATTTCATCTATA	0.249																																																0													23	25	24					9																	102822388		2156	4247	6403	SO:0001589	frameshift_variant	23071			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"Protein disulfide isomerases"	18311	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 10"	609170	"thioredoxin domain containing 4 (endoplasmic reticulum)"	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.124delA	9.37:g.102822388delT	ENSP00000262455:p.Ile42fs		O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Frame_Shift_Del	DEL	ENST00000262455.6	37	CCDS35082.1																																																																																				0.249	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476		-	102822388	T	-	102822388	7	5	422	1	0	1	0	1	0	0	0	0	5245	1493	52	0	1140	0	ERP44	9	102822388	Frame_Shift_Del	DEL	T	TCGA-BP-5170-01A-01D-1429-08		102822388	38391043	26	23072											
C10orf2	56652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102749574	102749574	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr10:102749574C>T	ENST00000311916.2	+	2	1602	c.1417C>T	c.(1417-1419)Cac>Tac	p.H473Y	MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.H473Y|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|C10orf2_ENST00000473656.1_3'UTR|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	473	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.H473Y(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAAATATGATCACTGGGCTGA	0.532																																																1	Substitution - Missense(1)	kidney(1)											137	134	135					10																	102749574		2203	4300	6503	SO:0001583	missense	56652			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1417C>T	10.37:g.102749574C>T	ENSP00000309595:p.His473Tyr		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.488527	0.01018	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.94232	-3.38;-3.38	6.04	4.18	0.49190	Circadian clock protein KaiC/DNA repair protein RadA (1);DNA helicase, DnaB-like, C-terminal (1);	0.351848	0.35207	N	0.003378	D	0.82879	0.5133	N	0.03608	-0.345	0.26361	N	0.977045	B;B	0.11235	0.004;0.0	B;B	0.15870	0.014;0.0	T	0.73142	-0.4076	10	0.35671	T	0.21	-33.1849	11.1615	0.48518	0.0713:0.1328:0.7959:0.0	.	473;473	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	Y	473	ENSP00000309595:H473Y;ENSP00000359248:H473Y	ENSP00000309595:H473Y	H	+	1	0	C10orf2	102739564	0.999000	0.42202	0.934000	0.37439	0.426000	0.31534	2.692000	0.47018	1.565000	0.49641	-0.344000	0.07964	CAC		0.532	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		T	102749574	C	T	102749574	3	4	422	1	0	0	0	0	1	0	0	0	1599	826	29	2	1423	2	C10orf2	10	102749574	Missense_Mutation	SNP	C	TCGA-BP-5170-01A-01D-1429-08		102749574	32785173	27	23073											
PLA2G16	11145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63357820	63357820	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr11:63357820C>T	ENST00000323646.5	-	3	493	c.139G>A	c.(139-141)Gca>Aca	p.A47T	PLA2G16_ENST00000415826.1_Missense_Mutation_p.A47T|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	47					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)	p.A47T(1)		kidney(2)|lung(1)|ovary(1)|skin(1)	5						ACACTGGCTGCACCAGCTCCT	0.582																																																1	Substitution - Missense(1)	kidney(1)											116	83	94					11																	63357820		2201	4298	6499	SO:0001583	missense	11145			X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"adipose-specific PLA2"	613867	"HRAS-like suppressor 3"	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.139G>A	11.37:g.63357820C>T	ENSP00000320337:p.Ala47Thr		B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Missense_Mutation	SNP	ENST00000323646.5	37	CCDS8047.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440034	0.43326	.	.	ENSG00000176485	ENST00000323646;ENST00000415826	T;T	0.22539	1.95;1.95	5.58	3.71	0.42584	.	0.249831	0.39341	N	0.001399	T	0.12008	0.0292	N	0.24115	0.695	0.09310	N	1	B;B	0.18610	0.029;0.006	B;B	0.24394	0.053;0.021	T	0.32719	-0.9896	10	0.16420	T	0.52	-0.5815	6.24	0.20785	0.0:0.6823:0.1519:0.1658	.	78;47	Q3MI98;P53816	.;PAG16_HUMAN	T	47	ENSP00000320337:A47T;ENSP00000389124:A47T	ENSP00000320337:A47T	A	-	1	0	PLA2G16	63114396	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	0.030000	0.13688	0.720000	0.32209	0.551000	0.68910	GCA		0.582	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396632.1	NM_001128203		T	63357820	C	T	63357820	3	4	422	1	0	0	0	0	1	0	0	0	11995	710	25	2	357	2	PLA2G16	11	63357820	Missense_Mutation	SNP	C	TCGA-BP-5170-01A-01D-1429-08		63357820	71648696	28	23074											
CEP164	22897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117265695	117265695	+	Silent	SNP	C	C	T			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr11:117265695C>T	ENST00000278935.3	+	22	2967	c.2820C>T	c.(2818-2820)gcC>gcT	p.A940A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	940	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.A940A(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ATGTCAAGGCCAGATTGGCTC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											137	139	138					11																	117265695		2201	4296	6497	SO:0001819	synonymous_variant	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2820C>T	11.37:g.117265695C>T			Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	CCDS31683.1																																																																																				0.512	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		T	117265695	C	T	117265695	2	4	422	1	0	0	0	0	0	0	0	1	3251	581	21	2		2	CEP164	11	117265695	Silent	SNP	C	TCGA-BP-5170-01A-01D-1429-08	53907875	117265695	17740821	29	23075											
MLL	4297	hgsc.bcm.edu;ucsc.edu	37	11	118372561	118372561	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr11:118372561T>A	ENST00000389506.5	+	26	6485	c.6485T>A	c.(6484-6486)tTg>tAg	p.L2162*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.L2124*|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.L2165*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2162					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGTCGACCGTTGCCTTCTGCA	0.438																																																0													79	79	79					11																	118372561		2200	4296	6496	SO:0001587	stop_gained	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6485T>A	11.37:g.118372561T>A	ENSP00000374157:p.Leu2162*		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	T	46	12.721034	0.99691	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.53	5.53	0.82687	.	0.136740	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6946	0.62569	0.0:0.0:0.0:1.0	.	.	.	.	X	2165;2162;2124;1072	.	ENSP00000346516:L2124X	L	+	2	0	MLL	117877771	1.000000	0.71417	0.965000	0.40720	0.589000	0.36550	5.534000	0.67167	2.219000	0.72066	0.482000	0.46254	TTG		0.438	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		A	118372561	T	A	118372561	4	1	422	1	0	0	0	0	0	1	0	0	9622	1821	63	5	6587	5	MLL	11	118372561	Nonsense_Mutation	SNP	T	TCGA-BP-5170-01A-01D-1429-08	1106866	118372561	16633955	30	23076											
SLC6A12	6539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	318976	318976	+	Silent	SNP	G	G	C			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr12:318976G>C	ENST00000428720.1	-	3	920	c.177C>G	c.(175-177)gtC>gtG	p.V59V	SLC6A12_ENST00000397296.2_Silent_p.V59V|SLC6A12_ENST00000536824.1_Silent_p.V59V|SLC6A12_ENST00000359674.4_Silent_p.V59V|SLC6A12_ENST00000424061.2_Silent_p.V59V	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	59					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V59V(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GAAACCTCCAGACATTGCCCA	0.562																																																1	Substitution - coding silent(1)	kidney(1)											201	167	178					12																	318976		2203	4300	6503	SO:0001819	synonymous_variant	6539			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.177C>G	12.37:g.318976G>C			A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	CCDS8501.1																																																																																				0.562	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		C	318976	G	C	318976	2	2	422	1	0	0	0	0	0	0	0	1	14681	929	33	4		4	SLC6A12	12	318976	Silent	SNP	G	TCGA-BP-5170-01A-01D-1429-08		318976	133532919	31	23077											
PARP4	143	broad.mit.edu;hgsc.bcm.edu	37	13	25008976	25008976	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr13:25008976G>T	ENST00000381989.3	-	31	4408	c.4303C>A	c.(4303-4305)Ccc>Acc	p.P1435T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1435					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.P1435T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGAAGCTGGGGAGAATCCAGC	0.512																																																1	Substitution - Missense(1)	kidney(1)											26	28	27					13																	25008976		2203	4299	6502	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4303C>A	13.37:g.25008976G>T	ENSP00000371419:p.Pro1435Thr		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	g	7.101	0.574150	0.13623	.	.	ENSG00000102699	ENST00000381989	T	0.01933	4.55	2.78	0.935	0.19483	.	.	.	.	.	T	0.01730	0.0055	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.46748	-0.9169	9	0.62326	D	0.03	-1.0482	3.4596	0.07528	0.1461:0.0:0.6068:0.2471	.	1435	Q9UKK3	PARP4_HUMAN	T	1435	ENSP00000371419:P1435T	ENSP00000371419:P1435T	P	-	1	0	PARP4	23906976	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.176000	0.09811	0.058000	0.16222	0.462000	0.41574	CCC		0.512	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		T	25008976	G	T	25008976	3	4	422	1	0	0	0	0	1	0	0	0	11465	1174	41	4	887	4	PARP4	13	25008976	Missense_Mutation	SNP	G	TCGA-BP-5170-01A-01D-1429-08		25008976	90160902	32	23078											
SNW1	22938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	78217740	78217740	+	Silent	SNP	A	A	G			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr14:78217740A>G	ENST00000261531.7	-	3	314	c.252T>C	c.(250-252)aaT>aaC	p.N84N	SNW1_ENST00000555761.1_Silent_p.N84N|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	84					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.N84N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGGCCAGCGCATTCGACATTT	0.423																																																1	Substitution - coding silent(1)	kidney(1)											114	129	124					14																	78217740		2203	4300	6503	SO:0001819	synonymous_variant	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.252T>C	14.37:g.78217740A>G			A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	ENST00000261531.7	37	CCDS9867.1																																																																																				0.423	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		G	78217740	A	G	78217740	2	3	422	1	0	0	0	0	0	0	0	1	14885	214	8	3		3	SNW1	14	78217740	Silent	SNP	A	TCGA-BP-5170-01A-01D-1429-08		78217740	29131800	33	23079											
RPS2	6187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2012906	2012906	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr16:2012906A>T	ENST00000343262.4	-	5	436	c.380T>A	c.(379-381)tTt>tAt	p.F127Y	RPS2_ENST00000526522.1_Intron|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000529806.1_Missense_Mutation_p.F97Y|RPS2_ENST00000530225.1_Missense_Mutation_p.F127Y|SNORA64_ENST00000384674.1_RNA|SNHG9_ENST00000459373.1_lincRNA	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	127	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.F127Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GATAGCAACAAATGCCTGCGA	0.607																																																1	Substitution - Missense(1)	kidney(1)											63	61	62					16																	2012906		2144	4157	6301	SO:0001583	missense	6187			AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"S ribosomal proteins"	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.380T>A	16.37:g.2012906A>T	ENSP00000341885:p.Phe127Tyr		B2R5G0|D3DU82|Q3MIB1	Missense_Mutation	SNP	ENST00000343262.4	37	CCDS10452.1	.	.	.	.	.	.	.	.	.	.	a	21.9	4.212997	0.79352	.	.	ENSG00000140988	ENST00000533186;ENST00000530225;ENST00000343262;ENST00000529806;ENST00000527302	.	.	.	4.38	4.38	0.52667	Ribosomal protein S5, N-terminal, conserved site (1);Ribosomal protein S5, N-terminal (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	U	0.000000	T	0.68906	0.3052	M	0.80746	2.51	0.80722	D	1	B	0.21071	0.051	B	0.24848	0.056	T	0.70691	-0.4802	9	0.62326	D	0.03	.	12.9348	0.58307	1.0:0.0:0.0:0.0	.	127	P15880	RS2_HUMAN	Y	29;127;127;97;127	.	ENSP00000341885:F127Y	F	-	2	0	RPS2	1952907	1.000000	0.71417	0.834000	0.33040	0.600000	0.36913	9.100000	0.94213	1.645000	0.50612	0.524000	0.50904	TTT		0.607	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		T	2012906	A	T	2012906	3	4	422	1	0	0	0	0	1	0	0	0	13637	14	1	5	513	5	RPS2	16	2012906	Missense_Mutation	SNP	A	TCGA-BP-5170-01A-01D-1429-08		2012906	88341847	34	23080											
ZFP3	124961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4995604	4995604	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr17:4995604A>C	ENST00000318833.3	+	2	1141	c.805A>C	c.(805-807)Att>Ctt	p.I269L		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I269L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TTCACAGCTTATTCAGCATCA	0.393																																																1	Substitution - Missense(1)	kidney(1)											63	61	62					17																	4995604		2203	4300	6503	SO:0001583	missense	124961			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"Zinc fingers, C2H2-type"	12861	protein-coding gene	gene with protein product		194480	"zinc finger protein homologous to Zfp-3 in mouse", "zinc finger protein 3 homolog (mouse)"				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.805A>C	17.37:g.4995604A>C	ENSP00000320347:p.Ile269Leu		A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.923969	0.34002	.	.	ENSG00000180787	ENST00000318833	T	0.14766	2.48	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002288	T	0.22898	0.0553	L	0.56199	1.76	0.24652	N	0.993515	D	0.53462	0.96	P	0.61592	0.891	T	0.05022	-1.0911	10	0.29301	T	0.29	-12.6766	6.1079	0.20084	0.8882:0.0:0.1118:0.0	.	269	Q96NJ6	ZFP3_HUMAN	L	269	ENSP00000320347:I269L	ENSP00000320347:I269L	I	+	1	0	ZFP3	4936328	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	1.617000	0.36943	2.011000	0.59026	0.460000	0.39030	ATT		0.393	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		C	4995604	A	C	4995604	3	2	422	1	0	0	0	0	1	0	0	0	17648	449	16	5	807	5	ZFP3	17	4995604	Missense_Mutation	SNP	A	TCGA-BP-5170-01A-01D-1429-08		4995604	76199606	35	23081											
CD300LG	146894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41931245	41931246	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr17:41931245_41931246GC>TA	ENST00000317310.4	+	4	593_594	c.552_553GC>TA	c.(550-555)ttGCca>ttTAca	p.184_185LP>FT	CD300LG_ENST00000377203.4_Missense_Mutation_p.150_151LP>FT|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000293396.8_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.184_185LP>FT	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	184					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L184F(1)|p.P185T(1)|p.L184>?(1)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCCCTCCATTGCCAGGGACTTC	0.619																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	146894			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		Exception_encountered	17.37:g.41931245_41931246delinsTA	ENSP00000321005:p.L184_P185delinsFT		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	CCDS11470.1																																																																																				0.619	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		TA	41931246	GC	TA	41931245	3	4	422	1	0	0	0	0	1	0	0	0	3004	1310	46	4	566	4	CD300LG	17	41931245	Missense_Mutation	DNP	GC	TCGA-BP-5170-01A-01D-1429-08	36935641	41931245	39263965	36	23082											
C17orf71	55181	hgsc.bcm.edu;ucsc.edu	37	17	57292221	57292225	+	Frame_Shift_Del	DEL	CCCTT	CCCTT	-	rs141773415		TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	CCCTT	CCCTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr17:57292221_57292225delCCCTT	ENST00000543872.2	+	5	3098_3102	c.2834_2838delCCCTT	c.(2833-2838)acccttfs	p.TL945fs	SMG8_ENST00000300917.5_Frame_Shift_Del_p.TL945fs|CTD-2510F5.6_ENST00000577660.1_Frame_Shift_Del_p.TL64fs			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	945					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CAAGAAATCACCCTTCCACCTGATG	0.424																																																0																																										SO:0001589	frameshift_variant	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2834_2838delCCCTT	17.37:g.57292221_57292225delCCCTT	ENSP00000438748:p.Thr945fs		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Frame_Shift_Del	DEL	ENST00000543872.2	37	CCDS11615.1																																																																																				0.424	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		-	57292225	CCCTT	-	57292221	7	5	422	1	0	1	0	1	0	0	0	0	1880	507	18	0	2848	0	C17orf71	17	57292221	Frame_Shift_Del	DEL	CCCTT	TCGA-BP-5170-01A-01D-1429-08	15360976	57292221	23902989	37	23083											
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	6983136	6983136	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr18:6983136C>A	ENST00000389658.3	-	40	5851	c.5758G>T	c.(5758-5760)Gcc>Tcc	p.A1920S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1920	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.A1920S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCATCTCTGGCCAGTTCCTCC	0.498																																																1	Substitution - Missense(1)	kidney(1)											110	102	105					18																	6983136		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5758G>T	18.37:g.6983136C>A	ENSP00000374309:p.Ala1920Ser			Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105685	0.56291	.	.	ENSG00000101680	ENST00000389658	T	0.28895	1.59	5.87	5.87	0.94306	.	0.134719	0.48767	D	0.000177	T	0.49304	0.1549	L	0.52759	1.655	0.34916	D	0.747927	D	0.89917	1.0	D	0.68353	0.957	T	0.57100	-0.7869	10	0.51188	T	0.08	.	15.7747	0.78204	0.1368:0.8632:0.0:0.0	.	1920	P25391	LAMA1_HUMAN	S	1920	ENSP00000374309:A1920S	ENSP00000374309:A1920S	A	-	1	0	LAMA1	6973136	1.000000	0.71417	0.499000	0.27577	0.137000	0.21094	3.906000	0.56340	2.774000	0.95407	0.650000	0.86243	GCC		0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	6983136	C	A	6983136	3	1	422	1	0	0	0	0	1	0	0	0	8607	739	26	4	3565	4	LAMA1	18	6983136	Missense_Mutation	SNP	C	TCGA-BP-5170-01A-01D-1429-08		6983136	71094112	38	23084											
CATSPERG	57828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38853135	38853135	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr19:38853135C>A	ENST00000409235.3	+	19	2392	c.2277C>A	c.(2275-2277)ttC>ttA	p.F759L	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.F719L	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	759					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.F399L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGCGCATTTTCCTGGACAAGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											66	63	64					19																	38853135		2203	4300	6503	SO:0001583	missense	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2277C>A	19.37:g.38853135C>A	ENSP00000386962:p.Phe759Leu		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079438	0.55753	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.32753	1.44;1.44	4.61	3.57	0.40892	.	0.260548	0.27482	N	0.019179	T	0.44705	0.1306	M	0.67953	2.075	0.80722	D	1	D;D	0.63880	0.987;0.993	P;P	0.57720	0.722;0.826	T	0.39396	-0.9616	10	0.66056	D	0.02	-31.5841	8.8883	0.35418	0.0:0.894:0.0:0.106	.	759;719	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	L	719;759;759	ENSP00000387057:F719L;ENSP00000386962:F759L	ENSP00000386962:F759L	F	+	3	2	CATSPERG	43544975	1.000000	0.71417	0.995000	0.50966	0.419000	0.31324	2.335000	0.43929	0.933000	0.37291	-0.448000	0.05591	TTC		0.607	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		A	38853135	C	A	38853135	3	1	422	1	0	0	0	0	1	0	0	0	2694	854	30	4	2347	4	CATSPERG	19	38853135	Missense_Mutation	SNP	C	TCGA-BP-5170-01A-01D-1429-08		38853135	20275848	39	23085											
ZNF611	81856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53209367	53209367	+	Missense_Mutation	SNP	C	C	A	rs144132013	byFrequency	TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr19:53209367C>A	ENST00000319783.1	-	7	1257	c.941G>T	c.(940-942)cGt>cTt	p.R314L	ZNF611_ENST00000543227.1_Missense_Mutation_p.R314L|ZNF611_ENST00000540744.1_Missense_Mutation_p.R314L|ZNF611_ENST00000595798.1_Missense_Mutation_p.R245L|ZNF611_ENST00000453741.2_Missense_Mutation_p.R245L|ZNF611_ENST00000602162.1_Missense_Mutation_p.R245L|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R314L(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ACAATTGTAACGTTTTACTCC	0.398																																																1	Substitution - Missense(1)	kidney(1)											144	134	137					19																	53209367		2203	4300	6503	SO:0001583	missense	81856			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.941G>T	19.37:g.53209367C>A	ENSP00000322427:p.Arg314Leu		B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	11.62	1.693321	0.30052	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	1.72	0.591	0.17465	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08403	0.0209	N	0.04686	-0.185	0.23271	N	0.998002	B	0.02656	0.0	B	0.08055	0.003	T	0.32295	-0.9912	9	0.56958	D	0.05	.	8.8864	0.35406	0.0:0.2353:0.7647:0.0	.	314	Q8N823	ZN611_HUMAN	L	314;314;245;314	ENSP00000437616:R314L;ENSP00000439211:R314L;ENSP00000443505:R245L;ENSP00000322427:R314L	ENSP00000322427:R314L	R	-	2	0	ZNF611	57901179	0.004000	0.15560	0.002000	0.10522	0.006000	0.05464	1.133000	0.31430	0.076000	0.16826	-0.686000	0.03744	CGT		0.398	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		A	53209367	C	A	53209367	3	1	422	1	0	0	0	0	1	0	0	0	18042	536	19	4	1180	4	ZNF611	19	53209367	Missense_Mutation	SNP	C	TCGA-BP-5170-01A-01D-1429-08	14356232	53209367	5919616	40	23086											
PAX1	5075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	21689243	21689243	+	Missense_Mutation	SNP	G	G	A	rs202103929	byFrequency	TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chr20:21689243G>A	ENST00000398485.2	+	3	1018	c.964G>A	c.(964-966)Gac>Aac	p.D322N	PAX1_ENST00000444366.2_Missense_Mutation_p.D298N|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	322					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D322N(1)|p.D228N(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CAAGATGGAAGACTGGGCCGG	0.602													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17560	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)											56	65	62					20																	21689243		2203	4300	6503	SO:0001583	missense	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.964G>A	20.37:g.21689243G>A	ENSP00000381499:p.Asp322Asn		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	CCDS13146.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	24.1	4.498082	0.85069	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98419	-4.49;-4.92	5.3	5.3	0.74995	.	0.107994	0.64402	D	0.000008	D	0.98302	0.9437	M	0.75447	2.3	0.58432	D	0.999996	B;B;D	0.59767	0.2;0.321;0.986	B;B;P	0.53266	0.089;0.105;0.722	D	0.98465	1.0598	10	0.44086	T	0.13	.	18.5491	0.91057	0.0:0.0:1.0:0.0	.	298;228;322	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	N	322;298	ENSP00000381499:D322N;ENSP00000410355:D298N	ENSP00000381499:D322N	D	+	1	0	PAX1	21637243	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	9.277000	0.95755	2.474000	0.83562	0.455000	0.32223	GAC		0.602	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			A	21689243	G	A	21689243	3	1	422	1	0	0	0	0	1	0	0	0	11480	942	33	2	974	2	PAX1	20	21689243	Missense_Mutation	SNP	G	TCGA-BP-5170-01A-01D-1429-08		21689243	41336277	41	23087											
CXorf21	80231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	30578381	30578381	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5170-01A-01D-1429-08	TCGA-BP-5170-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68761b2c-66b9-4adf-9b60-955f79ed0f11	bd5e01bf-68f5-4812-be2b-ccf301ca6b1b	g.chrX:30578381T>C	ENST00000378962.3	-	3	414	c.92A>G	c.(91-93)aAg>aGg	p.K31R		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	31								p.K31R(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CTCCTCTTCCTTTTCCCCAGC	0.458																																																1	Substitution - Missense(1)	kidney(1)											95	80	85					X																	30578381		2202	4300	6502	SO:0001583	missense	80231			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.92A>G	X.37:g.30578381T>C	ENSP00000368245:p.Lys31Arg			Missense_Mutation	SNP	ENST00000378962.3	37	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	T	5.388	0.256885	0.10185	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.0	1.23	0.21249	.	0.518270	0.19077	N	0.123349	T	0.28499	0.0705	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20371	-1.0277	9	0.13853	T	0.58	-8.3278	4.4701	0.11708	0.1629:0.4105:0.0:0.4266	.	31	Q9HAI6	CX021_HUMAN	R	31	.	ENSP00000368245:K31R	K	-	2	0	CXorf21	30488302	0.081000	0.21417	0.003000	0.11579	0.388000	0.30384	0.471000	0.22100	0.248000	0.21435	-0.443000	0.05667	AAG		0.458	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		C	30578381	T	C	30578381	3	2	422	1	0	0	0	0	1	0	0	0	4103	1609	56	3	817	3	CXorf21	23	30578381	Missense_Mutation	SNP	T	TCGA-BP-5170-01A-01D-1429-08		30578381	124692179	42	23088											
DNASE2B	58511	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	84864297	84864297	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr1:84864297T>C	ENST00000370665.3	+	1	83	c.50T>C	c.(49-51)cTc>cCc	p.L17P		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	17					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)	p.L17P(1)		endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TTTGCTTTGCTCTTCCTTGGC	0.453																																					Pancreas(54;788 1175 11852 16034 30034)											1	Substitution - Missense(1)	kidney(1)											227	233	231					1																	84864297		1998	4176	6174	SO:0001583	missense	58511			AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.50T>C	1.37:g.84864297T>C	ENSP00000359699:p.Leu17Pro		Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	CCDS44167.1	.	.	.	.	.	.	.	.	.	.	T	8.112	0.779071	0.16120	.	.	ENSG00000137976	ENST00000370665	T	0.17854	2.25	5.23	5.23	0.72850	.	0.332317	0.28098	N	0.016616	T	0.17280	0.0415	M	0.72894	2.215	0.80722	D	1	P	0.46395	0.877	P	0.46718	0.525	T	0.01235	-1.1410	10	0.87932	D	0	-1.2509	11.6871	0.51492	0.0:0.0:0.0:1.0	.	17	Q8WZ79	DNS2B_HUMAN	P	17	ENSP00000359699:L17P	ENSP00000359699:L17P	L	+	2	0	DNASE2B	84636885	0.947000	0.32204	0.128000	0.21923	0.008000	0.06430	2.811000	0.47986	2.324000	0.78689	0.533000	0.62120	CTC		0.453	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		C	84864297	T	C	84864297	3	2	423	1	0	0	0	0	1	0	0	0	4667	1551	54	3	52	3	DNASE2B	1	84864297	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08		84864297	164386324	1	23089											
HIPK1	204851	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	114483183	114483183	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr1:114483183C>A	ENST00000369558.1	+	2	410	c.178C>A	c.(178-180)Cac>Aac	p.H60N	HIPK1_ENST00000369559.4_Missense_Mutation_p.H60N|HIPK1_ENST00000369554.2_Missense_Mutation_p.H60N|HIPK1_ENST00000369561.4_Missense_Mutation_p.H60N|HIPK1_ENST00000426820.2_Missense_Mutation_p.H60N|HIPK1_ENST00000369555.2_Missense_Mutation_p.H60N			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	60					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H60N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAACTCCTCTCACCAGGTAGC	0.537																																																2	Substitution - Missense(2)	kidney(2)											207	209	208					1																	114483183		2203	4300	6503	SO:0001583	missense	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.178C>A	1.37:g.114483183C>A	ENSP00000358571:p.His60Asn		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.030038	0.35797	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.85;0.88;0.86;0.86;0.88;0.86;0.96;0.95	5.22	4.29	0.51040	.	0.083034	0.50627	D	0.000114	T	0.15003	0.0362	N	0.08118	0	0.80722	D	1	B;B	0.31817	0.231;0.341	B;B	0.32762	0.034;0.152	T	0.06445	-1.0826	10	0.27785	T	0.31	.	14.9969	0.71439	0.1435:0.8565:0.0:0.0	.	60;60	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	N	131;60;60;60;60;60;60;60;60	ENSP00000407442:H131N;ENSP00000358572:H60N;ENSP00000409673:H60N;ENSP00000358567:H60N;ENSP00000358568:H60N;ENSP00000358571:H60N;ENSP00000358574:H60N;ENSP00000422322:H60N;ENSP00000426695:H60N	ENSP00000358567:H60N	H	+	1	0	HIPK1	114284706	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.882000	0.63121	1.151000	0.42436	0.650000	0.86243	CAC		0.537	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		A	114483183	C	A	114483183	3	1	423	1	0	0	0	0	1	0	0	0	7118	826	29	4	180	4	HIPK1	1	114483183	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	29618886	114483183	134767438	2	23090											
SNX27	81609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151665946	151665946	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr1:151665946A>G	ENST00000458013.2	+	11	1685	c.1565A>G	c.(1564-1566)aAg>aGg	p.K522R	SNX27_ENST00000368838.1_Missense_Mutation_p.K429R|SNX27_ENST00000368843.3_Missense_Mutation_p.K522R			Q96L92	SNX27_HUMAN	sorting nexin family member 27	522	FERM-like region F3.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.K522R(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCGAGCTCAAGTGGAGAAAA	0.423																																					Colon(46;291 966 40145 41237 41888)											1	Substitution - Missense(1)	kidney(1)											187	173	178					1																	151665946		2203	4300	6503	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1565A>G	1.37:g.151665946A>G	ENSP00000400333:p.Lys522Arg		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37		.	.	.	.	.	.	.	.	.	.	A	20.6	4.021988	0.75275	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.54675	0.61;0.56;0.77	5.93	5.93	0.95920	.	0.049039	0.85682	D	0.000000	T	0.35128	0.0921	M	0.68952	2.095	0.58432	D	0.999993	B;B	0.27853	0.072;0.191	B;B	0.29942	0.075;0.109	T	0.25984	-1.0116	10	0.16896	T	0.51	.	12.7735	0.57434	1.0:0.0:0.0:0.0	.	522;522	Q96L92;Q96L92-3	SNX27_HUMAN;.	R	522;522;429	ENSP00000400333:K522R;ENSP00000357836:K522R;ENSP00000357831:K429R	ENSP00000357831:K429R	K	+	2	0	SNX27	149932570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.686000	0.74548	2.261000	0.74972	0.460000	0.39030	AAG		0.423	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		G	151665946	A	G	151665946	3	3	423	1	0	0	0	0	1	0	0	0	14903	72	3	3	1607	3	SNX27	1	151665946	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08	37182763	151665946	97584675	3	23091											
DDR2	4921	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	162749936	162749936	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr1:162749936C>T	ENST00000367922.3	+	19	2906	c.2468C>T	c.(2467-2469)tCt>tTt	p.S823F	DDR2_ENST00000367921.3_Missense_Mutation_p.S823F|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	823	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S823F(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TGTCCTGACTCTGTGTATAAG	0.453																																					NSCLC(161;314 2006 8283 19651 23192)											1	Substitution - Missense(1)	kidney(1)											209	202	205					1																	162749936		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2468C>T	1.37:g.162749936C>T	ENSP00000356899:p.Ser823Phe		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469834	0.63625	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.83250	-1.7;-1.7	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.259980	0.41500	D	0.000861	T	0.63534	0.2519	N	0.21545	0.675	0.42680	D	0.993548	P	0.37636	0.603	B	0.34873	0.191	T	0.73512	-0.3959	9	0.66056	D	0.02	.	13.9968	0.64407	0.0:0.8485:0.1515:0.0	.	823	Q16832	DDR2_HUMAN	F	823	ENSP00000356899:S823F;ENSP00000356898:S823F	ENSP00000356898:S823F	S	+	2	0	DDR2	161016560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.529000	0.53532	2.671000	0.90904	0.650000	0.86243	TCT		0.453	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		T	162749936	C	T	162749936	3	4	423	1	0	0	0	0	1	0	0	0	4339	913	32	2	2530	2	DDR2	1	162749936	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	11083990	162749936	86500685	4	23092											
C1orf112	55732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169811586	169811586	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr1:169811586T>A	ENST00000286031.6	+	18	2454	c.1754T>A	c.(1753-1755)gTa>gAa	p.V585E	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.V585E	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	585								p.V585E(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGCTTGCAGTATGTAATTCT	0.408																																																1	Substitution - Missense(1)	kidney(1)											161	153	156					1																	169811586		2203	4300	6503	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1754T>A	1.37:g.169811586T>A	ENSP00000286031:p.Val585Glu		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.536811	0.45176	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.47869	0.83;0.83	5.18	5.18	0.71444	.	0.226336	0.45361	D	0.000379	T	0.45296	0.1335	M	0.75447	2.3	0.28209	N	0.927003	P;P	0.42584	0.784;0.784	P;P	0.51615	0.675;0.675	T	0.50890	-0.8774	10	0.72032	D	0.01	-5.6691	8.0737	0.30704	0.0:0.0911:0.0:0.9089	.	527;585	B4DGF2;Q9NSG2	.;CA112_HUMAN	E	585	ENSP00000352276:V585E;ENSP00000286031:V585E	ENSP00000286031:V585E	V	+	2	0	C1orf112	168078210	0.931000	0.31567	0.044000	0.18714	0.402000	0.30811	3.606000	0.54095	2.081000	0.62600	0.533000	0.62120	GTA		0.408	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		A	169811586	T	A	169811586	3	1	423	1	0	0	0	0	1	0	0	0	1987	1638	57	5	1816	5	C1orf112	1	169811586	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08	7061650	169811586	79439035	5	23093											
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186147782	186147782	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr1:186147782A>T	ENST00000271588.4	+	104	16407	c.16178A>T	c.(16177-16179)cAt>cTt	p.H5393L	HMCN1_ENST00000367492.2_Intron|GS1-174L6.4_ENST00000428391.1_RNA	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5393					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.H5393L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTACTCACATCTCTACAGC	0.453																																																1	Substitution - Missense(1)	kidney(1)											199	192	194					1																	186147782		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16178A>T	1.37:g.186147782A>T	ENSP00000271588:p.His5393Leu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845303	0.32606	.	.	ENSG00000143341	ENST00000271588	T	0.63255	-0.03	5.56	4.44	0.53790	Growth factor, receptor (1);	0.606540	0.18885	N	0.128474	T	0.40171	0.1106	N	0.08118	0	0.80722	D	1	B	0.21520	0.057	B	0.14023	0.01	T	0.19516	-1.0303	10	0.39692	T	0.17	.	10.1308	0.42678	0.9243:0.0:0.0757:0.0	.	5393	Q96RW7	HMCN1_HUMAN	L	5393	ENSP00000271588:H5393L	ENSP00000271588:H5393L	H	+	2	0	HMCN1	184414405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.425000	0.66470	1.052000	0.40392	0.533000	0.62120	CAT		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186147782	A	T	186147782	3	4	423	1	0	0	0	0	1	0	0	0	7222	217	8	5	16592	5	HMCN1	1	186147782	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08	16336196	186147782	63102839	6	23094											
B3GALT2	8707	hgsc.bcm.edu;ucsc.edu	37	1	193149452	193149452	+	Frame_Shift_Del	DEL	C	C	-	rs373501556		TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr1:193149452delC	ENST00000367434.4	-	2	1996	c.1241delG	c.(1240-1242)ggcfs	p.G414fs	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	414					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						GCGATACCTGCCTGCCTTTTC	0.363																																																0													122	117	119					1																	193149452		2203	4300	6503	SO:0001589	frameshift_variant	8707			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"Beta 3-glycosyltransferases"	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.1241delG	1.37:g.193149452delC	ENSP00000356404:p.Gly414fs		B2RAB1|Q9BZQ9	Frame_Shift_Del	DEL	ENST00000367434.4	37	CCDS1383.1																																																																																				0.363	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		-	193149452	C	-	193149452	7	5	423	1	0	1	0	1	0	0	0	0	1248	739	26	0	31	0	B3GALT2	1	193149452	Frame_Shift_Del	DEL	C	TCGA-BP-5173-01A-01D-1429-08	7001670	193149452	56101169	7	23095											
DUSP10	11221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	221912420	221912420	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr1:221912420C>T	ENST00000366899.3	-	2	905	c.667G>A	c.(667-669)Gac>Aac	p.D223N	DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000544095.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	223	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D223N(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TTGAAAGAGTCCTTGCCTTCC	0.473																																																1	Substitution - Missense(1)	kidney(1)											68	73	71					1																	221912420		2203	4300	6503	SO:0001583	missense	11221			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.667G>A	1.37:g.221912420C>T	ENSP00000355866:p.Asp223Asn		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934207	0.73442	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.43688	0.94	5.44	5.44	0.79542	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.46157	1.445	0.80722	D	1	B	0.33964	0.434	B	0.41036	0.346	T	0.37033	-0.9723	10	0.40728	T	0.16	.	19.2863	0.94072	0.0:1.0:0.0:0.0	.	223	Q9Y6W6	DUS10_HUMAN	N	223;168	ENSP00000355866:D223N	ENSP00000355866:D223N	D	-	1	0	DUSP10	219979043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	2.558000	0.86282	0.591000	0.81541	GAC		0.473	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		T	221912420	C	T	221912420	3	4	423	1	0	0	0	0	1	0	0	0	4812	855	30	2	793	2	DUSP10	1	221912420	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	28762968	221912420	27338201	8	23096											
TARBP1	6894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234565028	234565028	+	Missense_Mutation	SNP	T	T	A	rs576184554		TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr1:234565028T>A	ENST00000040877.1	-	17	2913	c.2914A>T	c.(2914-2916)Atg>Ttg	p.M972L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	972					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.M972L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTCCACGCCATGTCAAAAGAC	0.338																																																1	Substitution - Missense(1)	kidney(1)											61	64	63					1																	234565028		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2914A>T	1.37:g.234565028T>A	ENSP00000040877:p.Met972Leu		Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	2.655	-0.281178	0.05642	.	.	ENSG00000059588	ENST00000040877	T	0.04454	3.62	5.58	-2.81	0.05805	Armadillo-type fold (1);	0.693428	0.15678	N	0.250071	T	0.02610	0.0079	L	0.35414	1.06	0.20403	N	0.999904	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	10	0.18276	T	0.48	-26.7065	1.2904	0.02059	0.1341:0.2775:0.1956:0.3928	.	972	Q13395	TARB1_HUMAN	L	972	ENSP00000040877:M972L	ENSP00000040877:M972L	M	-	1	0	TARBP1	232631651	0.001000	0.12720	0.792000	0.32020	0.911000	0.54048	-1.413000	0.02473	-0.412000	0.07519	-0.316000	0.08728	ATG		0.338	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		A	234565028	T	A	234565028	3	1	423	1	0	0	0	0	1	0	0	0	15560	1464	51	5	2007	5	TARBP1	1	234565028	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08	12652608	234565028	14685593	9	23097											
TTC32	130502	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	20101521	20101521	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr2:20101521G>A	ENST00000333610.3	-	1	226	c.95C>T	c.(94-96)tCc>tTc	p.S32F	TTC32_ENST00000402414.1_Missense_Mutation_p.S32F|RP11-79O8.1_ENST00000607190.1_lincRNA	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	32								p.S32F(1)		kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGTAAGCGGAGTACAGTGC	0.647																																																1	Substitution - Missense(1)	kidney(1)											107	99	102					2																	20101521		2203	4300	6503	SO:0001583	missense	130502			BC057850	CCDS33151.1	2p24.1	2013-01-10			ENSG00000183891	ENSG00000183891		"Tetratricopeptide (TTC) repeat domain containing"	32954	protein-coding gene	gene with protein product							Standard	NM_001008237		Approved		uc002rdg.3	Q5I0X7	OTTHUMG00000151776	ENST00000333610.3:c.95C>T	2.37:g.20101521G>A	ENSP00000333018:p.Ser32Phe			Missense_Mutation	SNP	ENST00000333610.3	37	CCDS33151.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404457	0.42613	.	.	ENSG00000183891	ENST00000402414;ENST00000333610	T;T	0.74947	-0.09;-0.89	5.09	5.09	0.68999	Tetratricopeptide-like helical (1);	0.352957	0.28641	N	0.014628	T	0.81847	0.4909	M	0.64997	1.995	0.42547	D	0.993099	D	0.53151	0.958	P	0.59546	0.859	D	0.83562	0.0107	10	0.72032	D	0.01	-8.4125	13.8614	0.63561	0.0:0.0:1.0:0.0	.	32	Q5I0X7	TTC32_HUMAN	F	32	ENSP00000385708:S32F;ENSP00000333018:S32F	ENSP00000333018:S32F	S	-	2	0	TTC32	19965002	0.993000	0.37304	0.995000	0.50966	0.051000	0.14879	2.606000	0.46291	2.638000	0.89438	0.655000	0.94253	TCC		0.647	TTC32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323868.1	NM_001008237		A	20101521	G	A	20101521	3	1	423	1	0	0	0	0	1	0	0	0	16706	1174	41	2	372	2	TTC32	2	20101521	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08		20101521	223097852	10	23098											
C2orf77	129881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170506866	170506866	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr2:170506866T>G	ENST00000447353.1	-	7	1230	c.1125A>C	c.(1123-1125)aaA>aaC	p.K375N		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	375								p.K369N(1)									CTGCAATTGTTTTTAATTCTG	0.318																																																1	Substitution - Missense(1)	kidney(1)											104	89	94					2																	170506866		1809	4068	5877	SO:0001583	missense	0			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1125A>C	2.37:g.170506866T>G	ENSP00000391504:p.Lys375Asn		Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767586	0.31320	.	.	ENSG00000154479	ENST00000447353	T	0.09538	2.97	5.42	3.01	0.34805	.	.	.	.	.	T	0.10637	0.0260	L	0.54323	1.7	0.28917	N	0.892378	B	0.10296	0.003	B	0.12837	0.008	T	0.20739	-1.0266	9	0.40728	T	0.16	.	4.9924	0.14220	0.1758:0.0873:0.0:0.7369	.	375	Q0VFZ6	CB077_HUMAN	N	375	ENSP00000391504:K375N	ENSP00000391504:K375N	K	-	3	2	C2orf77	170215112	0.974000	0.33945	0.897000	0.35233	0.936000	0.57629	0.439000	0.21575	0.358000	0.24211	0.456000	0.33151	AAA		0.318	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		G	170506866	T	G	170506866	3	3	423	1	0	0	0	0	1	0	0	0	2196	1838	64	5	545	5	C2orf77	2	170506866	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08	150405345	170506866	72692507	11	23099											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179485254	179485254	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr2:179485254G>T	ENST00000591111.1	-	198	41295	c.41071C>A	c.(41071-41073)Ctg>Atg	p.L13691M	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L6459M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L15332M|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L6392M|TTN_ENST00000460472.2_Missense_Mutation_p.L6267M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L12764M|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13691	Ig-like 93.				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)	p.L12764M(2)|p.L6392M(1)|p.L6267M(1)|p.L6459M(1)		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)			GTCCACTTCAGTGTTACATTG	0.398																																																5	Substitution - Missense(5)	kidney(5)											132	124	127					2																	179485254		1928	4127	6055	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41071C>A	2.37:g.179485254G>T	ENSP00000465570:p.Leu13691Met		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	8.346	0.829697	0.16749	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.7	2.96	0.34315	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70386	0.3218	L	0.41824	1.3	0.29971	N	0.818511	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.68039	0.939;0.939;0.939;0.955	T	0.64736	-0.6337	9	0.87932	D	0	.	6.6887	0.23160	0.2064:0.1275:0.666:0.0	.	6267;6392;6459;13691	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	12764;6267;6459;6392;6267	ENSP00000343764:L12764M;ENSP00000434586:L6267M;ENSP00000340554:L6459M;ENSP00000352154:L6392M	ENSP00000340554:L6459M	L	-	1	2	TTN	179193499	0.931000	0.31567	0.973000	0.42090	0.914000	0.54420	1.385000	0.34408	0.355000	0.24131	-0.244000	0.11960	CTG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179485254	G	T	179485254	3	4	423	1	0	0	0	0	1	0	0	0	16740	1020	36	4	62159	4	TTN	2	179485254	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	8978388	179485254	63714119	12	23100											
ZNF804A	91752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	185801482	185801482	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr2:185801482T>G	ENST00000302277.6	+	4	1953	c.1359T>G	c.(1357-1359)atT>atG	p.I453M		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	453							metal ion binding (GO:0046872)	p.I453M(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACCATCAATTTCCTATAGCT	0.348																																																1	Substitution - Missense(1)	kidney(1)											92	93	93					2																	185801482		2203	4300	6503	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1359T>G	2.37:g.185801482T>G	ENSP00000303252:p.Ile453Met		A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087817	0.55968	.	.	ENSG00000170396	ENST00000302277	T	0.14893	2.47	5.6	0.173	0.15036	.	0.225703	0.31347	N	0.007802	T	0.21347	0.0514	M	0.65975	2.015	0.31989	N	0.604832	D	0.54047	0.964	P	0.52031	0.688	T	0.25984	-1.0116	10	0.87932	D	0	-9.3222	1.3791	0.02227	0.1343:0.2164:0.1319:0.5174	.	453	Q7Z570	Z804A_HUMAN	M	453	ENSP00000303252:I453M	ENSP00000303252:I453M	I	+	3	3	ZNF804A	185509727	0.999000	0.42202	0.992000	0.48379	0.989000	0.77384	0.435000	0.21510	-0.190000	0.10465	0.482000	0.46254	ATT		0.348	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		G	185801482	T	G	185801482	3	3	423	1	0	0	0	0	1	0	0	0	18175	1829	64	5	1373	5	ZNF804A	2	185801482	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08	6316228	185801482	57397891	13	23101											
OBFC2A	64859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	192550402	192550402	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr2:192550402A>C	ENST00000425611.2	+	6	606	c.523A>C	c.(523-525)Ata>Cta	p.I175L	NABP1_ENST00000409510.1_Missense_Mutation_p.I95L|NABP1_ENST00000410026.2_Missense_Mutation_p.I95L	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	175					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.I175L(1)									CCGGGGACTTATAAATCCACA	0.428																																																1	Substitution - Missense(1)	kidney(1)											98	91	93					2																	192550402		2203	4300	6503	SO:0001583	missense	0			BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"single-stranded DNA-binding protein 2", "sensor of single-strand DNA complex subunit B2"	612103	"oligonucleotide/oligosaccharide-binding fold containing 2A"	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.523A>C	2.37:g.192550402A>C	ENSP00000403683:p.Ile175Leu		Q658Y8|Q9H5X6	Missense_Mutation	SNP	ENST00000425611.2	37	CCDS33352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.391|0.391	-0.923321|-0.923321	0.02377|0.02377	.|.	.|.	ENSG00000173559|ENSG00000173559	ENST00000410026;ENST00000409510;ENST00000425611|ENST00000435931	T;T;T|T	0.40476|0.43688	1.03;1.03;1.03|0.94	5.35|5.35	-4.17|-4.17	0.03857|0.03857	.|.	0.568928|.	0.18897|.	N|.	0.128137|.	T|T	0.29389|0.29389	0.0732|0.0732	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.37934|0.37934	-0.9684|-0.9684	10|7	0.08381|0.15499	T|T	0.77|0.54	.|.	8.8305|8.8305	0.35080|0.35080	0.2292:0.2602:0.5107:0.0|0.2292:0.2602:0.5107:0.0	.|.	95;175|.	Q96AH0-2;Q96AH0|.	.;SOSB2_HUMAN|.	L|F	95;95;175|138	ENSP00000387243:I95L;ENSP00000386605:I95L;ENSP00000403683:I175L|ENSP00000397041:L138F	ENSP00000386605:I95L|ENSP00000397041:L138F	I|L	+|+	1|3	0|2	OBFC2A|OBFC2A	192258647|192258647	0.985000|0.985000	0.35326|0.35326	0.005000|0.005000	0.12908|0.12908	0.125000|0.125000	0.20455|0.20455	0.278000|0.278000	0.18753|0.18753	-0.567000|-0.567000	0.06046|0.06046	0.533000|0.533000	0.62120|0.62120	ATA|TTA		0.428	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837		C	192550402	A	C	192550402	3	2	423	1	0	0	0	0	1	0	0	0	10810	449	16	5	545	5	OBFC2A	2	192550402	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08	6748920	192550402	50648971	14	23102											
NBEAL1	65065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	204002984	204002984	+	Silent	SNP	A	A	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr2:204002984A>T	ENST00000449802.1	+	29	4911	c.4578A>T	c.(4576-4578)atA>atT	p.I1526I		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1526								p.I1526I(1)|p.I236I(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCTGATCATACAGGACTTTC	0.378																																																2	Substitution - coding silent(2)	kidney(2)											92	85	87					2																	204002984		1858	4090	5948	SO:0001819	synonymous_variant	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4578A>T	2.37:g.204002984A>T			A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	CCDS46495.1																																																																																				0.378	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			T	204002984	A	T	204002984	2	4	423	1	0	0	0	0	0	0	0	1	10190	381	14	5		5	NBEAL1	2	204002984	Silent	SNP	A	TCGA-BP-5173-01A-01D-1429-08	11452582	204002984	39196389	15	23103											
SPHKAP	80309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228886626	228886626	+	Missense_Mutation	SNP	G	G	T	rs546485834		TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr2:228886626G>T	ENST00000392056.3	-	6	544	c.498C>A	c.(496-498)aaC>aaA	p.N166K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.N166K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	166						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.N166K(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTTGGTACTGTTTGGTCTGT	0.438																																																2	Substitution - Missense(2)	kidney(2)											120	106	111					2																	228886626		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.498C>A	2.37:g.228886626G>T	ENSP00000375909:p.Asn166Lys		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514301	0.64522	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11821	2.75;2.74	5.79	1.01	0.19927	.	0.198535	0.51477	D	0.000081	T	0.19248	0.0462	L	0.27053	0.805	0.35614	D	0.808894	D;D	0.62365	0.976;0.991	P;D	0.66847	0.622;0.947	T	0.06679	-1.0813	10	0.48119	T	0.1	.	9.7469	0.40453	0.3294:0.0:0.6706:0.0	.	166;166	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	166	ENSP00000375909:N166K;ENSP00000339886:N166K	ENSP00000339886:N166K	N	-	3	2	SPHKAP	228594870	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	1.859000	0.39418	-0.082000	0.12640	-0.140000	0.14226	AAC		0.438	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		T	228886626	G	T	228886626	3	4	423	1	0	0	0	0	1	0	0	0	15053	1368	48	4	4632	4	SPHKAP	2	228886626	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	24883642	228886626	14312747	16	23104											
TRIP12	9320	broad.mit.edu;ucsc.edu	37	2	230650536	230650536	+	Silent	SNP	C	C	A	rs189366062	byFrequency	TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr2:230650536C>A	ENST00000283943.5	-	33	4984	c.4806G>T	c.(4804-4806)gcG>gcT	p.A1602A	TRIP12_ENST00000389044.4_Silent_p.A1650A|TRIP12_ENST00000389045.3_Silent_p.A1332A	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1602					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.A1602A(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCACAGACTCCGCCTGTTTCA	0.463																																																1	Substitution - coding silent(1)	kidney(1)											111	112	111					2																	230650536		2203	4300	6503	SO:0001819	synonymous_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4806G>T	2.37:g.230650536C>A			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	CCDS33391.1																																																																																				0.463	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		A	230650536	C	A	230650536	2	1	423	1	0	0	0	0	0	0	0	1	16561	639	23	4		4	TRIP12	2	230650536	Silent	SNP	C	TCGA-BP-5173-01A-01D-1429-08	1763910	230650536	12548837	17	23105											
VHL	7428	broad.mit.edu	37	3	10183739	10183739	+	Nonsense_Mutation	SNP	G	G	T	rs5030802		TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr3:10183739G>T	ENST00000256474.2	+	1	1048	c.208G>T	c.(208-210)Gag>Tag	p.E70*	VHL_ENST00000345392.2_Nonsense_Mutation_p.E70*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	70			E -> K (in VHLD; type I). {ECO:0000269|PubMed:9829912}.|Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E70*(8)|p.R69_E70>Q(2)|p.E70fs*85(1)|p.N67fs*59(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.P61fs*61(1)|p.E70fs*90(1)|p.R69fs*89(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GAACTCGCGCGAGCCCTCCCA	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Substitution - Nonsense(8)|Deletion - Frameshift(5)|Complex - deletion inframe(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(17)	GRCh37	CM951268|CM984688	VHL	M	rs5030802						9	12	11					3																	10183739		2147	4221	6368	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.208G>T	3.37:g.10183739G>T	ENSP00000256474:p.Glu70*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.756512	0.96898	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.43	4.56	0.56223	.	0.306262	0.36002	N	0.002852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-6.2728	7.9439	0.29974	0.0857:0.1607:0.7536:0.0	rs5030802	.	.	.	X	70	.	ENSP00000256474:E70X	E	+	1	0	VHL	10158739	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.129000	0.42055	1.304000	0.44892	0.550000	0.68814	GAG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183739	G	T	10183739	4	4	423	1	0	0	0	0	0	1	0	0	17167	1059	37	4	210	4	VHL	3	10183739	Nonsense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08		10183739	187838691	18	23106											
C3orf58	205428	broad.mit.edu	37	3	143691724	143691724	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr3:143691724G>T	ENST00000315691.3	+	1	1085	c.550G>T	c.(550-552)Gcg>Tcg	p.A184S	C3orf58_ENST00000493396.1_3'UTR|C3orf58_ENST00000441925.2_5'Flank|C3orf58_ENST00000495414.1_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	184					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.A184S(1)|p.A184>?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCGCCGCTACGCGGAGACCAA	0.697																																																2	Substitution - Missense(1)|Complex(1)	kidney(2)											8	8	8					3																	143691724		2144	4198	6342	SO:0001583	missense	205428			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.550G>T	3.37:g.143691724G>T	ENSP00000320081:p.Ala184Ser		B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448247	0.84101	.	.	ENSG00000181744	ENST00000315691	T	0.33438	1.41	3.41	3.41	0.39046	.	0.000000	0.85682	U	0.000000	T	0.42245	0.1194	L	0.61387	1.9	0.80722	D	1	D	0.60575	0.988	P	0.53450	0.726	T	0.35176	-0.9799	10	0.28530	T	0.3	.	15.0174	0.71597	0.0:0.0:1.0:0.0	.	184	Q8NDZ4	CC058_HUMAN	S	184	ENSP00000320081:A184S	ENSP00000320081:A184S	A	+	1	0	C3orf58	145174414	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.701000	0.91331	1.752000	0.51891	0.561000	0.74099	GCG		0.697	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		T	143691724	G	T	143691724	3	4	423	1	0	0	0	0	1	0	0	0	2238	1087	38	4	552	4	C3orf58	3	143691724	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	133507985	143691724	54330706	19	23107											
ATP10D	57205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	47527622	47527622	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr4:47527622A>T	ENST00000273859.3	+	5	1008	c.739A>T	c.(739-741)Agc>Tgc	p.S247C	ATP10D_ENST00000504445.1_Missense_Mutation_p.S247C	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	247					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S247C(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGAATGTGAAAGCCCAAACAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											101	101	101					4																	47527622		2203	4300	6503	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.739A>T	4.37:g.47527622A>T	ENSP00000273859:p.Ser247Cys		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.598033	0.87055	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.76578	-1.03;-1.03	5.66	5.66	0.87406	ATPase, P-type, ATPase-associated domain (1);	0.203558	0.51477	D	0.000089	D	0.85431	0.5695	M	0.67397	2.05	0.30399	N	0.780207	P;P	0.44659	0.84;0.711	P;P	0.58520	0.84;0.704	D	0.84982	0.0889	10	0.62326	D	0.03	-9.5839	15.3685	0.74541	1.0:0.0:0.0:0.0	.	247;247	Q9P241;Q6PEW3	AT10D_HUMAN;.	C	247	ENSP00000273859:S247C;ENSP00000420909:S247C	ENSP00000273859:S247C	S	+	1	0	ATP10D	47222379	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.426000	0.80270	2.270000	0.75569	0.533000	0.62120	AGC		0.363	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		T	47527622	A	T	47527622	3	4	423	1	0	0	0	0	1	0	0	0	1118	72	3	5	753	5	ATP10D	4	47527622	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08		47527622	143626654	20	23108											
CXCL11	6373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	76956490	76956490	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr4:76956490G>T	ENST00000503860.1	-	3	445	c.67C>A	c.(67-69)Ccc>Acc	p.P23T	CXCL11_ENST00000306621.3_Missense_Mutation_p.P23T|ART3_ENST00000341029.5_Intron			O14625	CXL11_HUMAN	chemokine (C-X-C motif) ligand 11	23					cell-cell signaling (GO:0007267)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)	p.P23T(1)		kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGAACATGGGGAAGCCTAGA	0.423																																					Pancreas(31;57 931 1690 18027 37686)											1	Substitution - Missense(1)	kidney(1)											70	66	67					4																	76956490		2203	4300	6503	SO:0001583	missense	6373			U66096	CCDS3574.1	4q21	2013-02-25	2002-08-22	2002-08-23	ENSG00000169248	ENSG00000169248		"Endogenous ligands"	10638	protein-coding gene	gene with protein product		604852	"small inducible cytokine subfamily B (Cys-X-Cys), member 11"	SCYB9B, SCYB11		9730616	Standard	NM_005409		Approved	H174, b-R1, I-TAC, IP-9	uc003hjm.3	O14625	OTTHUMG00000130101	ENST00000503860.1:c.67C>A	4.37:g.76956490G>T	ENSP00000425819:p.Pro23Thr		Q53YA3|Q92840	Missense_Mutation	SNP	ENST00000503860.1	37	CCDS3574.1	.	.	.	.	.	.	.	.	.	.	G	7.502	0.652924	0.14580	.	.	ENSG00000169248	ENST00000306621;ENST00000503860	T;T	0.42900	0.96;0.96	5.37	3.59	0.41128	Chemokine interleukin-8-like domain (1);	0.322125	0.24438	N	0.038527	T	0.25121	0.0610	.	.	.	0.21719	N	0.999573	P	0.46987	0.888	B	0.37601	0.254	T	0.08785	-1.0705	9	0.27785	T	0.31	-1.5064	8.1616	0.31202	0.0894:0.162:0.7486:0.0	.	23	O14625	CXL11_HUMAN	T	23	ENSP00000306884:P23T;ENSP00000425819:P23T	ENSP00000306884:P23T	P	-	1	0	CXCL11	77175514	0.995000	0.38212	0.538000	0.28064	0.178000	0.23041	0.944000	0.29043	1.364000	0.46038	0.557000	0.71058	CCC		0.423	CXCL11-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362816.1			T	76956490	G	T	76956490	3	4	423	1	0	0	0	0	1	0	0	0	4081	1232	43	4	229	4	CXCL11	4	76956490	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	29428868	76956490	114197786	21	23109											
C4orf37	285555	hgsc.bcm.edu	37	4	99064290	99064290	+	Silent	SNP	C	C	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr4:99064290C>A	ENST00000295268.3	-	1	101	c.12G>T	c.(10-12)cgG>cgT	p.R4R		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	4																	GGCGGGGAGCCCGATCATACA	0.572											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													33	28	30					4																	99064290		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.12G>T	4.37:g.99064290C>A		1340		Silent	SNP	ENST00000295268.3	37	CCDS3645.1																																																																																				0.572	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		A	99064290	C	A	99064290	2	1	423	1	0	0	0	0	0	0	0	1	2269	610	22	4		4	C4orf37	4	99064290	Silent	SNP	C	TCGA-BP-5173-01A-01D-1429-08	22107800	99064290	92089986	22	23110											
SYNPO2	171024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	119947951	119947951	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr4:119947951G>C	ENST00000429713.2	+	3	609	c.427G>C	c.(427-429)Gct>Cct	p.A143P	SYNPO2_ENST00000434046.2_Missense_Mutation_p.A143P|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.A143P	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	143						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.A143P(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGTTCCCCTAGCTGAGAACCA	0.547																																																2	Substitution - Missense(2)	kidney(2)											45	47	46					4																	119947951		2203	4300	6503	SO:0001583	missense	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.427G>C	4.37:g.119947951G>C	ENSP00000395143:p.Ala143Pro		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.611|9.611	1.131176|1.131176	0.21041|0.21041	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.08720|.	3.07;3.06;3.06|.	5.29|5.29	2.47|2.47	0.30058|0.30058	.|.	0.554792|.	0.16194|.	N|.	0.225231|.	T|T	0.38321|0.38321	0.1036|0.1036	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	0.999991|0.999991	B;B;B;B|.	0.09022|.	0.0;0.001;0.002;0.002|.	B;B;B;B|.	0.08055|.	0.0;0.002;0.003;0.002|.	T|T	0.23655|0.23655	-1.0182|-1.0182	10|5	0.36615|.	T|.	0.2|.	-4.2263|-4.2263	6.7595|6.7595	0.23532|0.23532	0.1598:0.1439:0.6963:0.0|0.1598:0.1439:0.6963:0.0	.|.	143;143;143;143|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	P|T	143|94	ENSP00000306015:A143P;ENSP00000395143:A143P;ENSP00000390965:A143P|.	ENSP00000306015:A143P|.	A|S	+|+	1|2	0|0	SYNPO2|SYNPO2	120167399|120167399	0.941000|0.941000	0.31946|0.31946	0.453000|0.453000	0.27007|0.27007	0.517000|0.517000	0.34286|0.34286	1.397000|1.397000	0.34543|0.34543	0.590000|0.590000	0.29694|0.29694	0.557000|0.557000	0.71058|0.71058	GCT|AGC		0.547	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			C	119947951	G	C	119947951	3	2	423	1	0	0	0	0	1	0	0	0	15462	971	34	4	437	4	SYNPO2	4	119947951	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	20883661	119947951	71206325	23	23111	172	2									
SYNPO2	171024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	119947953	119947953	+	Silent	SNP	T	T	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr4:119947953T>A	ENST00000429713.2	+	3	611	c.429T>A	c.(427-429)gcT>gcA	p.A143A	SYNPO2_ENST00000434046.2_Silent_p.A143A|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Silent_p.A143A	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	143						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.A143A(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTCCCCTAGCTGAGAACCAAA	0.547																																																2	Substitution - coding silent(2)	kidney(2)											44	46	46					4																	119947953		2203	4300	6503	SO:0001819	synonymous_variant	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.429T>A	4.37:g.119947953T>A			B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	T	6.091	0.385118	0.11524	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.29	-0.0133	0.13985	.	.	.	.	.	.	.	.	.	.	.	0.32797	N	0.500358	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.2263	1.353	0.02177	0.1456:0.2677:0.133:0.4538	.	.	.	.	R	95	.	.	X	+	1	0	SYNPO2	120167401	0.933000	0.31639	0.792000	0.32020	0.495000	0.33615	0.117000	0.15583	0.355000	0.24131	0.455000	0.32223	TGA		0.547	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			A	119947953	T	A	119947953	2	1	423	1	0	0	0	0	0	0	0	1	15462	1567	55	5		5	SYNPO2	4	119947953	Silent	SNP	T	TCGA-BP-5173-01A-01D-1429-08	2	119947953	71206323	24	23112	172	2									
USP53	54532	broad.mit.edu;ucsc.edu	37	4	120182905	120182905	+	Silent	SNP	T	T	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr4:120182905T>C	ENST00000274030.6	+	12	2037	c.858T>C	c.(856-858)aaT>aaC	p.N286N	USP53_ENST00000450251.1_Silent_p.N286N	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53									p.N285N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATGCCAAAAATAGTGAACTTA	0.313																																																1	Substitution - coding silent(1)	kidney(1)											102	94	97					4																	120182905		1828	4082	5910	SO:0001819	synonymous_variant	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.858T>C	4.37:g.120182905T>C				Silent	SNP	ENST00000274030.6	37	CCDS43265.1																																																																																				0.313	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		C	120182905	T	C	120182905	2	2	423	1	0	0	0	0	0	0	0	1	17089	1403	49	3		3	USP53	4	120182905	Silent	SNP	T	TCGA-BP-5173-01A-01D-1429-08	234952	120182905	70971371	25	23113											
TMEM184C	55751	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	148555356	148555356	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr4:148555356T>G	ENST00000296582.3	+	10	1662	c.1088T>G	c.(1087-1089)tTt>tGt	p.F363C	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	363						integral component of membrane (GO:0016021)		p.F363C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						AAAAAATTGTTTCCCGAGGAT	0.348																																																1	Substitution - Missense(1)	kidney(1)											56	55	55					4																	148555356		2203	4300	6503	SO:0001583	missense	55751			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1088T>G	4.37:g.148555356T>G	ENSP00000296582:p.Phe363Cys		D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.074953	0.76415	.	.	ENSG00000164168	ENST00000296582	.	.	.	5.74	5.74	0.90152	.	0.048414	0.85682	D	0.000000	T	0.75265	0.3826	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	T	0.74922	-0.3499	9	0.38643	T	0.18	-25.9685	16.3305	0.83010	0.0:0.0:0.0:1.0	.	363	Q9NVA4	T184C_HUMAN	C	363	.	ENSP00000296582:F363C	F	+	2	0	TMEM184C	148774806	1.000000	0.71417	0.805000	0.32314	0.710000	0.40934	4.225000	0.58600	2.317000	0.78254	0.459000	0.35465	TTT		0.348	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		G	148555356	T	G	148555356	3	3	423	1	0	0	0	0	1	0	0	0	16111	1841	64	5	1126	5	TMEM184C	4	148555356	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08	28372451	148555356	42598920	26	23114											
GALNT7	51809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	174219381	174219381	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr4:174219381C>A	ENST00000265000.4	+	6	1164	c.1081C>A	c.(1081-1083)Ctc>Atc	p.L361I	GALNT7_ENST00000512285.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	361					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L361I(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TTGGAGTATGCTCTGGAAACG	0.438																																																1	Substitution - Missense(1)	kidney(1)											85	85	85					4																	174219381		2203	4300	6503	SO:0001583	missense	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1081C>A	4.37:g.174219381C>A	ENSP00000265000:p.Leu361Ile		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893909	0.91889	.	.	ENSG00000109586	ENST00000265000	T	0.60040	0.22	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	L	0.54863	1.705	0.80722	D	1	D	0.59357	0.985	D	0.63283	0.913	T	0.64927	-0.6292	10	0.28530	T	0.3	.	19.7775	0.96400	0.0:1.0:0.0:0.0	.	361	Q86SF2	GALT7_HUMAN	I	361	ENSP00000265000:L361I	ENSP00000265000:L361I	L	+	1	0	GALNT7	174455956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.680000	0.91292	0.655000	0.94253	CTC		0.438	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		A	174219381	C	A	174219381	3	1	423	1	0	0	0	0	1	0	0	0	6220	797	28	4	1103	4	GALNT7	4	174219381	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	25664025	174219381	16934895	27	23115											
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89971958	89971958	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr5:89971958T>A	ENST00000405460.2	+	25	5471	c.5375T>A	c.(5374-5376)aTc>aAc	p.I1792N	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1792	Calx-beta 12. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I1792N(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCATAAACATCACTGATAAT	0.299																																																1	Substitution - Missense(1)	kidney(1)											40	39	39					5																	89971958		1804	4058	5862	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5375T>A	5.37:g.89971958T>A	ENSP00000384582:p.Ile1792Asn		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337936	0.81911	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.41400	1.0	5.78	5.78	0.91487	Na-Ca exchanger/integrin-beta4 (2);	0.046152	0.85682	D	0.000000	T	0.75191	0.3816	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83396	0.0020	10	0.87932	D	0	.	15.7732	0.78187	0.0:0.0:0.0:1.0	.	1792	Q8WXG9	GPR98_HUMAN	N	1792	ENSP00000384582:I1792N	ENSP00000296619:I1792N	I	+	2	0	GPR98	90007714	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.875000	0.87205	2.199000	0.70637	0.533000	0.62120	ATC		0.299	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89971958	T	A	89971958	3	1	423	1	0	0	0	0	1	0	0	0	6723	1435	50	5	5473	5	GPR98	5	89971958	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08		89971958	90943302	28	23116											
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127782277	127782277	+	Silent	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr5:127782277G>A	ENST00000508053.1	-	13	1823	c.849C>T	c.(847-849)atC>atT	p.I283I	FBN2_ENST00000508989.1_Silent_p.I250I|FBN2_ENST00000262464.4_Silent_p.I283I			P35556	FBN2_HUMAN	fibrillin 2	283	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I283I(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATATCCCTGGGATAGCCTGGC	0.383																																																4	Substitution - coding silent(4)	prostate(2)|kidney(2)											120	111	114					5																	127782277		2203	4300	6503	SO:0001819	synonymous_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.849C>T	5.37:g.127782277G>A			B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.383	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		A	127782277	G	A	127782277	2	1	423	1	0	0	0	0	0	0	0	1	5705	1164	41	2		2	FBN2	5	127782277	Silent	SNP	G	TCGA-BP-5173-01A-01D-1429-08	37810319	127782277	53132983	29	23117											
CHSY3	337876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	129520380	129520380	+	Silent	SNP	G	G	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr5:129520380G>T	ENST00000305031.4	+	3	1903	c.1545G>T	c.(1543-1545)cgG>cgT	p.R515R		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	515					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.R515R(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GCAGAGGACGGCTCATTGACT	0.463																																																1	Substitution - coding silent(1)	kidney(1)											68	65	66					5																	129520380		2203	4300	6503	SO:0001819	synonymous_variant	337876			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1545G>T	5.37:g.129520380G>T			B2RP97|Q76L22|Q86Y52	Silent	SNP	ENST00000305031.4	37	CCDS34223.1																																																																																				0.463	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		T	129520380	G	T	129520380	2	4	423	1	0	0	0	0	0	0	0	1	3415	1190	42	4		4	CHSY3	5	129520380	Silent	SNP	G	TCGA-BP-5173-01A-01D-1429-08	1738103	129520380	51394880	30	23118											
BRD8	10902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137503709	137503709	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr5:137503709A>T	ENST00000254900.5	-	9	1072	c.701T>A	c.(700-702)cTg>cAg	p.L234Q	BRD8_ENST00000455658.2_Missense_Mutation_p.L193Q|BRD8_ENST00000230901.5_Missense_Mutation_p.L307Q|BRD8_ENST00000411594.2_Missense_Mutation_p.L307Q|BRD8_ENST00000402931.1_Missense_Mutation_p.L234Q	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	234					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.L234Q(1)|p.L307Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCTACCTCCAGGAGGACACC	0.522																																																2	Substitution - Missense(2)	kidney(2)											104	96	99					5																	137503709		2203	4300	6503	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.701T>A	5.37:g.137503709A>T	ENSP00000254900:p.Leu234Gln		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.27|12.27	1.888876|1.888876	0.33348|0.33348	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000453824|ENST00000441656	T;T;T;T;T;T;T|.	0.36157|.	1.8;1.51;1.27;1.61;1.59;1.28;1.57|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.305616|.	0.31554|.	N|.	0.007452|.	T|T	0.50343|0.50343	0.1610|0.1610	N|N	0.19112|0.19112	0.55|0.55	0.49051|0.49051	D|D	0.999741|0.999741	D;D;D;P;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.952;0.99;0.985;0.971;1.0|.	D;D;D;P;P;P;P;D|.	0.76575|.	0.988;0.972;0.972;0.694;0.775;0.878;0.839;0.981|.	T|T	0.46871|0.46871	-0.9160|-0.9160	10|5	0.30078|.	T|.	0.28|.	-6.1165|-6.1165	14.7615|14.7615	0.69610|0.69610	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	193;218;193;307;307;167;307;234|.	F8W820;B4DN43;B4DEG9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9|.	.;.;.;.;.;.;.;BRD8_HUMAN|.	Q|R	234;302;302;307;234;307;167;193;122|298	ENSP00000254900:L234Q;ENSP00000398067:L302Q;ENSP00000398873:L302Q;ENSP00000230901:L307Q;ENSP00000384845:L234Q;ENSP00000394330:L307Q;ENSP00000408396:L193Q|.	ENSP00000230901:L307Q|.	L|W	-|-	2|1	0|0	BRD8|BRD8	137531608|137531608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.208000|6.208000	0.72165|0.72165	2.273000|2.273000	0.75805|0.75805	0.482000|0.482000	0.46254|0.46254	CTG|TGG		0.522	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		T	137503709	A	T	137503709	3	4	423	1	0	0	0	0	1	0	0	0	1508	188	7	5	3146	5	BRD8	5	137503709	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08	7983329	137503709	43411551	31	23119											
PCDHB8	56128	broad.mit.edu;hgsc.bcm.edu	37	5	140559268	140559268	+	Silent	SNP	G	G	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr5:140559268G>T	ENST00000239444.2	+	1	1898	c.1653G>T	c.(1651-1653)ctG>ctT	p.L551L	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	551	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)	p.L551L(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGCGTGCTGGTGCTGGACG	0.716																																																1	Substitution - coding silent(1)	kidney(1)											29	51	44					5																	140559268		2194	4290	6484	SO:0001819	synonymous_variant	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1653G>T	5.37:g.140559268G>T			B9EGV1	Silent	SNP	ENST00000239444.2	37	CCDS4250.1																																																																																				0.716	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		T	140559268	G	T	140559268	2	4	423	1	0	0	0	0	0	0	0	1	11550	1335	47	4		4	PCDHB8	5	140559268	Silent	SNP	G	TCGA-BP-5173-01A-01D-1429-08	3055559	140559268	40355992	32	23120											
POLH	5429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43571729	43571729	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr6:43571729C>A	ENST00000372236.4	+	7	1160	c.865C>A	c.(865-867)Cat>Aat	p.H289N	POLH_ENST00000535400.1_Missense_Mutation_p.H227N|POLH_ENST00000372226.1_Missense_Mutation_p.H289N	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.H289N(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GCTCCAGAGTCATTTTGGGGA	0.398								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																																							1	Substitution - Missense(1)	kidney(1)											100	99	99					6																	43571729		2203	4300	6503	SO:0001583	missense	5429	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.865C>A	6.37:g.43571729C>A	ENSP00000361310:p.His289Asn		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860468	0.91433	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.70869	-0.52;-0.52;-0.52	5.62	5.62	0.85841	DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	T	0.78065	0.4225	M	0.63843	1.955	0.80722	D	1	D;D	0.60160	0.987;0.972	D;D	0.68943	0.961;0.943	T	0.73097	-0.4090	10	0.28530	T	0.3	-16.4276	19.2537	0.93935	0.0:1.0:0.0:0.0	.	227;289	B4DG64;Q9Y253	.;POLH_HUMAN	N	289;227;289	ENSP00000361310:H289N;ENSP00000442102:H227N;ENSP00000361300:H289N	ENSP00000361300:H289N	H	+	1	0	POLH	43679707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.135000	0.77276	2.638000	0.89438	0.591000	0.81541	CAT		0.398	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		A	43571729	C	A	43571729	3	1	423	1	0	0	0	0	1	0	0	0	12204	826	29	4	887	4	POLH	6	43571729	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08		43571729	127543338	33	23121											
GJA10	84694	hgsc.bcm.edu	37	6	90604514	90604514	+	Silent	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr6:90604514G>A	ENST00000369352.1	+	1	327	c.327G>A	c.(325-327)agG>agA	p.R109R		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	109					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ACAGGCAGAGGAAAAAGTCAC	0.463																																																0													76	72	74					6																	90604514		2203	4300	6503	SO:0001819	synonymous_variant	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.327G>A	6.37:g.90604514G>A			B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000369352.1	37	CCDS5025.1																																																																																				0.463	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		A	90604514	G	A	90604514	2	1	423	1	0	0	0	0	0	0	0	1	6403	1165	41	2		2	GJA10	6	90604514	Silent	SNP	G	TCGA-BP-5173-01A-01D-1429-08	47032785	90604514	80510553	34	23122											
PLG	5340	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	161152841	161152841	+	Silent	SNP	A	A	G	rs150227219		TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr6:161152841A>G	ENST00000308192.9	+	12	1566	c.1503A>G	c.(1501-1503)ccA>ccG	p.P501P		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	501	Kringle 5. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P501P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTGGGACGCCATGCCAGGACT	0.502																																																1	Substitution - coding silent(1)	kidney(1)											99	104	102					6																	161152841		2203	4300	6503	SO:0001819	synonymous_variant	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1503A>G	6.37:g.161152841A>G			Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																				0.502	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		G	161152841	A	G	161152841	2	3	423	1	0	0	0	0	0	0	0	1	12088	204	8	3		3	PLG	6	161152841	Silent	SNP	A	TCGA-BP-5173-01A-01D-1429-08	70548327	161152841	9962226	35	23123											
COBL	23242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	51094361	51094361	+	Splice_Site	SNP	G	G	A	rs375317019		TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr7:51094361G>A	ENST00000265136.7	-	11	3551	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	COBL_ENST00000395542.2_Splice_Site_p.T1211M	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1129	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.T1129M(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTGTTCTGCCGTCTAGAATAT	0.557																																					NSCLC(189;2119 2138 12223 30818 34679)											1	Substitution - Missense(1)	kidney(1)						G	MET/THR	0,4406		0,0,2203	127	113	118		3386	2.3	0.2	7		118	2,8598	2.2+/-6.3	0,2,4298	no	missense-near-splice	COBL	NM_015198.3	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1129/1262	51094361	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3385-1C>T	7.37:g.51094361G>A			A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	4.368	0.067849	0.08436	0.0	2.33E-4	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.16	2.29	0.28610	Actin-binding WH2 (3);	0.494861	0.17127	N	0.185980	T	0.58623	0.2135	L	0.50333	1.59	0.22435	N	0.999104	D;B;B;B;B	0.76494	0.999;0.246;0.101;0.246;0.294	P;B;B;B;B	0.61397	0.888;0.043;0.04;0.043;0.094	T	0.47812	-0.9088	10	0.51188	T	0.08	.	7.2793	0.26302	0.3767:0.0:0.6233:0.0	.	1129;1186;1129;1211;671	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	M	1129;1021;1014;1211	ENSP00000265136:T1129M;ENSP00000401204:T1021M;ENSP00000413498:T1014M;ENSP00000378912:T1211M	ENSP00000265136:T1129M	T	-	2	0	COBL	51061855	0.035000	0.19736	0.214000	0.23707	0.008000	0.06430	0.117000	0.15583	0.157000	0.19338	-0.251000	0.11542	ACG		0.557	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	Missense_Mutation	A	51094361	G	A	51094361	5	1	423	1	0	0	0	0	0	0	1	0	3655	1159	40	1	411	1	COBL	7	51094361	Splice_Site	SNP	G	TCGA-BP-5173-01A-01D-1429-08		51094361	108044302	36	23124											
MUC17	140453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100680818	100680818	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr7:100680818G>A	ENST00000306151.4	+	3	6185	c.6121G>A	c.(6121-6123)Gaa>Aaa	p.E2041K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2041	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.E2041K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAACGGACCAC	0.498																																																1	Substitution - Missense(1)	kidney(1)											179	170	173					7																	100680818		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6121G>A	7.37:g.100680818G>A	ENSP00000302716:p.Glu2041Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.840	-0.034066	0.07543	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.512	0.512	0.16994	.	.	.	.	.	T	0.01287	0.0042	N	0.14661	0.345	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.41197	-0.9522	9	0.07482	T	0.82	.	6.9006	0.24281	2.0E-4:0.0:0.9998:0.0	.	2041	Q685J3	MUC17_HUMAN	K	2041	ENSP00000302716:E2041K	ENSP00000302716:E2041K	E	+	1	0	MUC17	100467538	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.230000	0.09083	0.551000	0.29008	0.134000	0.15878	GAA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100680818	G	A	100680818	3	1	423	1	0	0	0	0	1	0	0	0	9976	1291	45	2	6131	2	MUC17	7	100680818	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	49586457	100680818	58457845	37	23125											
SLC13A1	6561	hgsc.bcm.edu;ucsc.edu	37	7	122757654	122757654	+	Silent	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr7:122757654G>A	ENST00000194130.2	-	14	1560	c.1521C>T	c.(1519-1521)gcC>gcT	p.A507A	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	507					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.A507A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TCACATGAATGGCTTCGGCCT	0.358																																																1	Substitution - coding silent(1)	kidney(1)											84	81	82					7																	122757654		2203	4300	6503	SO:0001819	synonymous_variant	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1521C>T	7.37:g.122757654G>A			Q9H5Z0	Silent	SNP	ENST00000194130.2	37	CCDS5786.1																																																																																				0.358	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		A	122757654	G	A	122757654	2	1	423	1	0	0	0	0	0	0	0	1	14397	1335	47	2		2	SLC13A1	7	122757654	Silent	SNP	G	TCGA-BP-5173-01A-01D-1429-08	22076836	122757654	36381009	38	23126											
HIPK2	28996	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	139415959	139415959	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr7:139415959T>C	ENST00000406875.3	-	2	969	c.875A>G	c.(874-876)aAg>aGg	p.K292R	HIPK2_ENST00000342645.6_Missense_Mutation_p.K292R|HIPK2_ENST00000428878.2_Missense_Mutation_p.K292R	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	292	Interaction with DAXX.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.K292R(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGGCTAAACTTGTTTTGCTT	0.507																																																2	Substitution - Missense(2)	kidney(2)											149	134	138					7																	139415959		1568	3582	5150	SO:0001583	missense	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.875A>G	7.37:g.139415959T>C	ENSP00000385571:p.Lys292Arg		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37		.	.	.	.	.	.	.	.	.	.	T	22.2	4.255474	0.80135	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.65549	-0.16;-0.16;-0.16	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.79799	0.4508	.	.	.	0.53688	D	0.999972	D;D	0.76494	0.999;0.982	D;P	0.81914	0.995;0.831	T	0.82782	-0.0287	8	0.66056	D	0.02	.	15.211	0.73225	0.0:0.0:0.0:1.0	.	292;292	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	R	292	ENSP00000385571:K292R;ENSP00000413724:K292R;ENSP00000343108:K292R	ENSP00000343108:K292R	K	-	2	0	HIPK2	139062445	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.040000	0.89188	1.986000	0.57962	0.482000	0.46254	AAG		0.507	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		C	139415959	T	C	139415959	3	2	423	1	0	0	0	0	1	0	0	0	7119	1609	56	3	2777	3	HIPK2	7	139415959	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08	16658305	139415959	19722704	39	23127											
CNTNAP2	26047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	146829477	146829477	+	Silent	SNP	T	T	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr7:146829477T>C	ENST00000361727.3	+	8	1740	c.1224T>C	c.(1222-1224)ggT>ggC	p.G408G		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	408	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.G408G(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCCCAATGGTCTCCTGGTCT	0.483										HNSCC(39;0.1)																																						1	Substitution - coding silent(1)	kidney(1)											130	117	121					7																	146829477		2203	4300	6503	SO:0001819	synonymous_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1224T>C	7.37:g.146829477T>C			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.483	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			C	146829477	T	C	146829477	2	2	423	1	0	0	0	0	0	0	0	1	3649	1654	58	3		3	CNTNAP2	7	146829477	Silent	SNP	T	TCGA-BP-5173-01A-01D-1429-08	7413518	146829477	12309186	40	23128											
DAPK1	1612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	90321652	90321652	+	Silent	SNP	C	C	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr9:90321652C>T	ENST00000408954.3	+	26	4001	c.3666C>T	c.(3664-3666)gtC>gtT	p.V1222V	DAPK1_ENST00000491893.1_Silent_p.V1156V|DAPK1_ENST00000472284.1_Silent_p.V1222V|DAPK1_ENST00000469640.2_Silent_p.V1247V|DAPK1_ENST00000358077.5_Silent_p.V1222V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1222					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V1222V(1)|p.V1223V(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTGAGAACGTCATGGCCACCA	0.637									Chronic Lymphocytic Leukemia, Familial Clustering of																																							2	Substitution - coding silent(2)	kidney(2)											34	39	37					9																	90321652		2176	4281	6457	SO:0001819	synonymous_variant	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3666C>T	9.37:g.90321652C>T			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																				0.637	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		T	90321652	C	T	90321652	2	4	423	1	0	0	0	0	0	0	0	1	4237	813	29	2		2	DAPK1	9	90321652	Silent	SNP	C	TCGA-BP-5173-01A-01D-1429-08		90321652	50891779	41	23129											
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113276281	113276281	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr9:113276281G>A	ENST00000401783.2	-	4	1406	c.1070C>T	c.(1069-1071)cCt>cTt	p.P357L	SVEP1_ENST00000374461.1_Missense_Mutation_p.P334L|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P334L|SVEP1_ENST00000302728.8_Missense_Mutation_p.P357L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	357					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.P357L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACAGTCTTCAGGGGATGTGCT	0.498																																																1	Substitution - Missense(1)	kidney(1)											67	67	67					9																	113276281		1991	4177	6168	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1070C>T	9.37:g.113276281G>A	ENSP00000384917:p.Pro357Leu		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	6.713	0.500293	0.12762	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	5.88	4.98	0.66077	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.558812	0.18076	N	0.152450	D	0.93197	0.7833	L	0.40543	1.245	0.18873	N	0.999988	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.08055	0.003;0.003;0.003;0.002	D	0.83909	0.0294	10	0.23891	T	0.37	.	6.9233	0.24401	0.2879:0.0:0.7121:0.0	.	357;357;357;357	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	L	357;334;357;334	ENSP00000384917:P357L;ENSP00000363593:P334L;ENSP00000304118:P357L;ENSP00000363585:P334L	ENSP00000304118:P357L	P	-	2	0	SVEP1	112316102	0.028000	0.19301	0.366000	0.25914	0.932000	0.56968	2.033000	0.41136	1.481000	0.48307	0.650000	0.86243	CCT		0.498	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	113276281	G	A	113276281	3	1	423	1	0	0	0	0	1	0	0	0	15425	1000	35	2	9825	2	SVEP1	9	113276281	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	22954629	113276281	27937150	42	23130											
DBH	1621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136522203	136522203	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr9:136522203A>G	ENST00000393056.2	+	11	1586	c.1574A>G	c.(1573-1575)gAg>gGg	p.E525G	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	525					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.E525G(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TTCAACAACGAGGATGTCTGC	0.612																																																1	Substitution - Missense(1)	kidney(1)											135	100	112					9																	136522203		2203	4300	6503	SO:0001583	missense	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1574A>G	9.37:g.136522203A>G	ENSP00000376776:p.Glu525Gly		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	A	6.736	0.504652	0.12822	.	.	ENSG00000123454	ENST00000393056	T	0.51071	0.72	5.07	2.71	0.32032	PHM/PNGase F domain (1);	0.481200	0.25280	N	0.031813	T	0.38983	0.1061	L	0.51422	1.61	0.36972	D	0.893867	B	0.11235	0.004	B	0.06405	0.002	T	0.28618	-1.0038	10	0.36615	T	0.2	-7.4821	9.2405	0.37493	0.8515:0.0:0.1485:0.0	.	525	P09172	DOPO_HUMAN	G	525	ENSP00000376776:E525G	ENSP00000376776:E525G	E	+	2	0	DBH	135512024	1.000000	0.71417	0.284000	0.24805	0.010000	0.07245	2.203000	0.42752	0.282000	0.22254	-0.415000	0.06103	GAG		0.612	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		G	136522203	A	G	136522203	3	3	423	1	0	0	0	0	1	0	0	0	4252	304	11	3	1616	3	DBH	9	136522203	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08	23245922	136522203	4691228	43	23131											
SEC16A	9919	broad.mit.edu;hgsc.bcm.edu	37	9	139370322	139370322	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr9:139370322C>A	ENST00000371706.3	-	1	1245	c.1212G>T	c.(1210-1212)caG>caT	p.Q404H	SEC16A_ENST00000313050.7_Missense_Mutation_p.Q582H|SEC16A_ENST00000431893.2_Missense_Mutation_p.Q404H|SEC16A_ENST00000290037.6_Missense_Mutation_p.Q404H			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	404					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Q582H(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CACGGTAATTCTGGCTCACAG	0.478																																																2	Substitution - Missense(2)	kidney(2)											29	33	31					9																	139370322		2101	4241	6342	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1212G>T	9.37:g.139370322C>A	ENSP00000360771:p.Gln404His		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	C	12.96	2.094173	0.36952	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.26373	1.75;1.75;1.74;1.74	5.42	0.0998	0.14504	.	0.278543	0.35555	N	0.003140	T	0.33294	0.0858	M	0.67953	2.075	0.19575	N	0.999962	D;D;D;D	0.62365	0.991;0.986;0.986;0.976	P;P;P;P	0.59288	0.72;0.855;0.855;0.556	T	0.11941	-1.0567	10	0.41790	T	0.15	-5.1675	2.4359	0.04483	0.1329:0.5153:0.1289:0.2229	.	582;404;404;209	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	H	582;404;404;404;209	ENSP00000325827:Q582H;ENSP00000360771:Q404H;ENSP00000290037:Q404H;ENSP00000387583:Q404H	ENSP00000290037:Q404H	Q	-	3	2	SEC16A	138490143	0.284000	0.24287	0.130000	0.21974	0.356000	0.29392	0.426000	0.21363	0.040000	0.15660	0.655000	0.94253	CAG		0.478	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		A	139370322	C	A	139370322	3	1	423	1	0	0	0	0	1	0	0	0	13992	912	32	4	5447	4	SEC16A	9	139370322	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	2848119	139370322	1843109	44	23132											
DIP2C	22982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	445051	445051	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr10:445051T>A	ENST00000280886.6	-	10	1345	c.1258A>T	c.(1258-1260)Aag>Tag	p.K420*	DIP2C_ENST00000381496.3_Nonsense_Mutation_p.K313*	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	420						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.K420*(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCCTTACCTTCCTGGTGAGC	0.622																																																1	Substitution - Nonsense(1)	kidney(1)											68	58	62					10																	445051		2203	4300	6503	SO:0001587	stop_gained	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1258A>T	10.37:g.445051T>A	ENSP00000280886:p.Lys420*		B4DPI5|Q5SS78	Nonsense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	t	41	8.972987	0.99021	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.3845	15.4178	0.74983	0.0:0.0:0.0:1.0	.	.	.	.	X	420;313	.	ENSP00000280886:K420X	K	-	1	0	DIP2C	435051	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	7.785000	0.85724	2.119000	0.64992	0.456000	0.33151	AAG		0.622	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		A	445051	T	A	445051	4	1	423	1	0	0	0	0	0	1	0	0	4531	1792	62	5	3524	5	DIP2C	10	445051	Nonsense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08		445051	135089696	45	23133											
IL2RA	3559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	6067802	6067802	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr10:6067802C>T	ENST00000379959.3	-	2	424	c.251G>A	c.(250-252)aGc>aAc	p.S84N	RP11-536K7.5_ENST00000440436.1_RNA|IL2RA_ENST00000256876.6_Missense_Mutation_p.S84N|IL2RA_ENST00000379954.1_Missense_Mutation_p.S84N	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	84	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)	p.S84N(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTTACCAGAGCTTGTGCATTG	0.468																																																1	Substitution - Missense(1)	kidney(1)											108	102	104					10																	6067802		2203	4300	6503	SO:0001583	missense	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.251G>A	10.37:g.6067802C>T	ENSP00000369293:p.Ser84Asn		Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	CCDS7076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.74|13.74	2.326183|2.326183	0.41197|0.41197	.|.	.|.	ENSG00000134460|ENSG00000134460	ENST00000447847|ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	.|T;T;T	.|0.46451	.|1.48;0.87;1.47	4.61|4.61	1.46|1.46	0.22682|0.22682	.|Complement control module (1);Sushi/SCR/CCP (1);	.|0.778944	.|0.12201	.|N	.|0.490268	T|T	0.37945|0.37945	0.1022|0.1022	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	.|B;P;P	.|0.50066	.|0.172;0.905;0.931	.|B;P;B	.|0.44359	.|0.015;0.447;0.398	T|T	0.22730|0.22730	-1.0208|-1.0208	5|10	.|0.49607	.|T	.|0.09	-38.0083|-38.0083	4.8998|4.8998	0.13769|0.13769	0.3762:0.5224:0.0:0.1014|0.3762:0.5224:0.0:0.1014	.|.	.|84;70;84	.|Q5W005;E9PF94;P01589	.|.;.;IL2RA_HUMAN	T|N	55|84;70;84;84	.|ENSP00000369293:S84N;ENSP00000369287:S84N;ENSP00000256876:S84N	.|ENSP00000256876:S84N	A|S	-|-	1|2	0|0	IL2RA|IL2RA	6107808|6107808	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	0.152000|0.152000	0.16302|0.16302	0.635000|0.635000	0.30488|0.30488	0.585000|0.585000	0.79938|0.79938	GCT|AGC		0.468	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		T	6067802	C	T	6067802	3	4	423	1	0	0	0	0	1	0	0	0	7688	797	28	2	595	2	IL2RA	10	6067802	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	5622751	6067802	129466945	46	23134											
OGDHL	55753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	50947858	50947858	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr10:50947858C>T	ENST00000374103.4	-	17	2253	c.2168G>A	c.(2167-2169)aGc>aAc	p.S723N	OGDHL_ENST00000490844.1_5'Flank|OGDHL_ENST00000419399.1_Missense_Mutation_p.S666N|OGDHL_ENST00000432695.1_Missense_Mutation_p.S514N	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	723					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.S723N(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGCATTGGGGCTGGCCATGGC	0.567																																																1	Substitution - Missense(1)	kidney(1)											66	60	62					10																	50947858		2203	4300	6503	SO:0001583	missense	55753			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2168G>A	10.37:g.50947858C>T	ENSP00000363216:p.Ser723Asn		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	9.664	1.144942	0.21288	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.91124	-2.79;-2.79;-2.79	4.61	4.61	0.57282	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.78691	0.4323	N	0.02736	-0.51	0.54753	D	0.999982	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.003;0.001;0.006	T	0.73480	-0.3969	10	0.15952	T	0.53	.	17.4702	0.87643	0.0:1.0:0.0:0.0	.	666;514;723	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	N	723;666;514	ENSP00000363216:S723N;ENSP00000401356:S666N;ENSP00000390240:S514N	ENSP00000363216:S723N	S	-	2	0	OGDHL	50617864	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.689000	0.61723	2.127000	0.65507	0.446000	0.29264	AGC		0.567	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		T	50947858	C	T	50947858	3	4	423	1	0	0	0	0	1	0	0	0	10842	797	28	2	892	2	OGDHL	10	50947858	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	44880056	50947858	84586889	47	23135											
LCOR	84458	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	98715214	98715214	+	Silent	SNP	A	A	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr10:98715214A>G	ENST00000371097.4	+	8	1383	c.837A>G	c.(835-837)gtA>gtG	p.V279V	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000540664.1_Silent_p.V279V|LCOR_ENST00000371103.3_Silent_p.V279V|LCOR_ENST00000356016.3_Silent_p.V279V			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	279					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V279V(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GCTCTTTGGTAATGGGTTCAC	0.428																																																1	Substitution - coding silent(1)	kidney(1)											73	76	75					10																	98715214		2203	4300	6503	SO:0001819	synonymous_variant	84458				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.837A>G	10.37:g.98715214A>G			D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Silent	SNP	ENST00000371097.4	37	CCDS7451.1																																																																																				0.428	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			G	98715214	A	G	98715214	2	3	423	1	0	0	0	0	0	0	0	1	8691	349	13	3		3	LCOR	10	98715214	Silent	SNP	A	TCGA-BP-5173-01A-01D-1429-08	47767356	98715214	36819533	48	23136											
FAM178A	55719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102719193	102719193	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr10:102719193C>A	ENST00000238961.4	+	19	3968	c.3426C>A	c.(3424-3426)gaC>gaA	p.D1142E	FAM178A_ENST00000370269.3_Missense_Mutation_p.D1142E	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1142						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.D1142E(1)									AGGTGAAAGACTTGGTCGCCA	0.358																																																1	Substitution - Missense(1)	kidney(1)											188	196	193					10																	102719193		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3426C>A	10.37:g.102719193C>A	ENSP00000238961:p.Asp1142Glu		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445987	0.84101	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.40756	1.03;1.02	5.98	4.99	0.66335	.	0.245484	0.40064	N	0.001183	T	0.50137	0.1598	M	0.62723	1.935	0.44880	D	0.997897	D;D	0.65815	0.991;0.995	P;P	0.55713	0.782;0.782	T	0.52449	-0.8574	10	0.72032	D	0.01	-12.5499	7.0266	0.24944	0.0:0.8615:0.0:0.1385	.	1142;1142	Q8IX21;B1AL17	F178A_HUMAN;.	E	1142	ENSP00000238961:D1142E;ENSP00000359292:D1142E	ENSP00000238961:D1142E	D	+	3	2	FAM178A	102709183	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.744000	0.26245	2.838000	0.97847	0.591000	0.81541	GAC		0.358	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			A	102719193	C	A	102719193	3	1	423	1	0	0	0	0	1	0	0	0	5505	564	20	4	3500	4	FAM178A	10	102719193	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	4003979	102719193	32815554	49	23137											
EBF3	253738	broad.mit.edu;hgsc.bcm.edu	37	10	131761928	131761928	+	Silent	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr10:131761928G>A	ENST00000355311.5	-	1	177	c.105C>T	c.(103-105)ggC>ggT	p.G35G	EBF3_ENST00000368648.3_Silent_p.G35G			Q9H4W6	COE3_HUMAN	early B-cell factor 3	35					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G35G(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CGTCCACCACGCCCGCCGTGT	0.761																																																2	Substitution - coding silent(2)	kidney(2)											22	26	25					10																	131761928		2187	4283	6470	SO:0001819	synonymous_variant	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.105C>T	10.37:g.131761928G>A			A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37																																																																																					0.761	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		A	131761928	G	A	131761928	2	1	423	1	0	0	0	0	0	0	0	1	4884	1074	38	1		1	EBF3	10	131761928	Silent	SNP	G	TCGA-BP-5173-01A-01D-1429-08	29042735	131761928	3772819	50	23138											
CREBZF	58487	broad.mit.edu;ucsc.edu	37	11	85374911	85374911	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr11:85374911A>C	ENST00000527447.1	-	1	1235	c.1009T>G	c.(1009-1011)Tcg>Gcg	p.S337A	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.S255A	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	337					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S337A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AACTCCACCGACACCTTATCC	0.562											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)											1	Substitution - Missense(1)	kidney(1)											89	98	95					11																	85374911		1995	4155	6150	SO:0001583	missense	58487			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.1009T>G	11.37:g.85374911A>C	ENSP00000433459:p.Ser337Ala	1236	B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094571	0.76870	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	5.43	5.43	0.79202	.	0.314863	0.21915	N	0.067260	T	0.75042	0.3796	L	0.59436	1.845	0.49798	D	0.999826	D	0.64830	0.994	D	0.70716	0.97	T	0.74153	-0.3757	8	.	.	.	-19.0833	15.3001	0.73940	1.0:0.0:0.0:0.0	.	337	Q9NS37	ZHANG_HUMAN	A	255;337	.	.	S	-	1	0	CREBZF	85052559	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.310000	0.89971	2.279000	0.76181	0.533000	0.62120	TCG		0.562	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		C	85374911	A	C	85374911	3	2	423	1	0	0	0	0	1	0	0	0	3865	275	10	5	59	5	CREBZF	11	85374911	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08		85374911	49631605	51	23139											
FOLH1B	219595	broad.mit.edu;hgsc.bcm.edu	37	11	89429850	89429850	+	RNA	SNP	G	G	C	rs141697840		TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr11:89429850G>C	ENST00000532352.1	+	0	1859							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.A366P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCTGGAAAGAGCATTTATTGA	0.308																																																1	Substitution - Missense(1)	kidney(1)											102	97	98					11																	89429850		2201	4298	6499			219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89429850G>C				Missense_Mutation	SNP	ENST00000532352.1	37																																																																																					0.308	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		C	89429850	G	C	89429850	1	2	423	0	1	0	0	0	0	0	0	0	5982	971	34	4		4	FOLH1B	11	89429850	RNA	SNP	G	TCGA-BP-5173-01A-01D-1429-08	4054939	89429850	45576666	52	23140											
ATM	472	hgsc.bcm.edu	37	11	108206572	108206572	+	Splice_Site	SNP	G	G	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr11:108206572G>C	ENST00000452508.2	+	57	8341	c.8152G>C	c.(8152-8154)Ggc>Cgc	p.G2718R	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Splice_Site_p.G2718R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2718	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G2718R(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TATTCTGAAGGGCCGTGATGA	0.383			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	2	Substitution - Missense(2)	kidney(2)											84	78	80					11																	108206572		2201	4298	6499	SO:0001630	splice_region_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8152-1G>C	11.37:g.108206572G>C			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005966	0.93287	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.94330	-3.4;-3.4	5.47	5.47	0.80525	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97771	1.0226	9	.	.	.	.	19.3096	0.94182	0.0:0.0:1.0:0.0	.	2718	Q13315	ATM_HUMAN	R	2718	ENSP00000278616:G2718R;ENSP00000388058:G2718R	.	G	+	1	0	ATM	107711782	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.262000	0.95591	2.583000	0.87209	0.591000	0.81541	GGC		0.383	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Missense_Mutation	C	108206572	G	C	108206572	5	2	423	1	0	0	0	0	0	0	1	0	1109	1246	43	4	8370	4	ATM	11	108206572	Splice_Site	SNP	G	TCGA-BP-5173-01A-01D-1429-08	18776722	108206572	26799944	53	23141											
SDHD	6392	broad.mit.edu;hgsc.bcm.edu	37	11	111959648	111959648	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr11:111959648T>A	ENST00000375549.3	+	3	362	c.227T>A	c.(226-228)cTc>cAc	p.L76H	TIMM8B_ENST00000541231.1_5'Flank|SDHD_ENST00000528048.1_Intron|SDHD_ENST00000532699.1_Missense_Mutation_p.L76H|SDHD_ENST00000528021.1_Missense_Mutation_p.L76H|SDHD_ENST00000525291.1_Missense_Mutation_p.L37H|TIMM8B_ENST00000507614.1_5'Flank|SDHD_ENST00000528182.1_Missense_Mutation_p.L76H|TIMM8B_ENST00000504148.2_5'Flank|SDHD_ENST00000526592.1_Missense_Mutation_p.L76H	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	76					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)	p.L76H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	AGTGTTTTGCTCCTGGGTCTG	0.498			"Mis, N, F, S"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													yes	Rec		Familial paraganglioma	11	11q23	6392	"succinate dehydrogenase complex, subunit D, integral membrane protein"		O	1	Substitution - Missense(1)	kidney(1)											79	77	77					11																	111959648		2201	4294	6495	SO:0001583	missense	6392	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"Mitochondrial respiratory chain complex / Complex II"	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.227T>A	11.37:g.111959648T>A	ENSP00000364699:p.Leu76His		A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Missense_Mutation	SNP	ENST00000375549.3	37	CCDS31678.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546346	0.86022	.	.	ENSG00000204370	ENST00000375549;ENST00000528182;ENST00000528021;ENST00000526592;ENST00000525291	D;D;D;D;D	0.99304	-5.72;-5.72;-5.72;-5.72;-5.72	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	D	0.99521	0.9829	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98162	1.0447	10	0.87932	D	0	-3.599	14.7676	0.69651	0.0:0.0:0.0:1.0	.	76	O14521	DHSD_HUMAN	H	76;76;76;76;37	ENSP00000364699:L76H;ENSP00000435475:L76H;ENSP00000432465:L76H;ENSP00000432005:L76H;ENSP00000436669:L37H	ENSP00000436395:L76H	L	+	2	0	SDHD	111464858	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.504000	0.81646	1.893000	0.54813	0.477000	0.44152	CTC		0.498	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392351.1	NM_003002		A	111959648	T	A	111959648	3	1	423	1	0	0	0	0	1	0	0	0	13973	1551	54	5	237	5	SDHD	11	111959648	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08	3753076	111959648	23046868	54	23142											
OR10G9	219870	broad.mit.edu;hgsc.bcm.edu	37	11	123894277	123894277	+	Silent	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr11:123894277G>A	ENST00000375024.1	+	1	558	c.558G>A	c.(556-558)ctG>ctA	p.L186L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L186L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCTGAAACTGGCCTGTGCAG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											254	221	232					11																	123894277		2201	4297	6498	SO:0001819	synonymous_variant	219870			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.558G>A	11.37:g.123894277G>A				Silent	SNP	ENST00000375024.1	37	CCDS31703.1																																																																																				0.522	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		A	123894277	G	A	123894277	2	1	423	1	0	0	0	0	0	0	0	1	10906	1335	47	2		2	OR10G9	11	123894277	Silent	SNP	G	TCGA-BP-5173-01A-01D-1429-08	11934629	123894277	11112239	55	23143											
VWA5A	4013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123988558	123988558	+	Silent	SNP	A	A	G	rs150034934	byFrequency	TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr11:123988558A>G	ENST00000456829.2	+	4	473	c.222A>G	c.(220-222)gtA>gtG	p.V74V	VWA5A_ENST00000361352.5_Silent_p.V74V|VWA5A_ENST00000449321.1_Silent_p.V74V|VWA5A_ENST00000360334.4_Silent_p.V74V|VWA5A_ENST00000392748.1_Silent_p.V74V|VWA5A_ENST00000392744.4_Silent_p.V90V	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	74	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.							p.V74V(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGAAAATTGTAGCAGAATTAC	0.413																																																1	Substitution - coding silent(1)	kidney(1)						A	,,	5,4397	9.9+/-24.2	0,5,2196	99	103	102		222,222,222	1.1	1	11	dbSNP_134	102	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	VWA5A	NM_001130142.1,NM_014622.4,NM_198315.2	,,	0,5,6495	GG,GA,AA		0.0,0.1136,0.0385	,,	74/787,74/787,74/416	123988558	5,12995	2201	4299	6500	SO:0001819	synonymous_variant	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.222A>G	11.37:g.123988558A>G			Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	ENST00000456829.2	37	CCDS8444.1																																																																																				0.413	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		G	123988558	A	G	123988558	2	3	423	1	0	0	0	0	0	0	0	1	17247	407	15	3		3	VWA5A	11	123988558	Silent	SNP	A	TCGA-BP-5173-01A-01D-1429-08	94281	123988558	11017958	56	23144											
GLIPR1L1	256710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	75737689	75737689	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr12:75737689T>G	ENST00000378695.4	+	2	481	c.391T>G	c.(391-393)Tgc>Ggc	p.C131G	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.C131G			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	131	SCP.				binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)		p.C131G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TAGTCTATCATGCTCCAGAGT	0.328																																																1	Substitution - Missense(1)	kidney(1)											87	86	86					12																	75737689		2203	4300	6503	SO:0001583	missense	256710			BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.391T>G	12.37:g.75737689T>G	ENSP00000367967:p.Cys131Gly		Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37		.	.	.	.	.	.	.	.	.	.	T	18.19	3.568958	0.65765	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.06687	3.27;3.27	4.69	4.69	0.59074	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	M	0.81179	2.53	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.01935	-1.1244	10	0.40728	T	0.16	.	11.96	0.53003	0.0:0.0:0.0:1.0	.	131;131	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	G	131	ENSP00000367967:C131G;ENSP00000310770:C131G	ENSP00000310770:C131G	C	+	1	0	GLIPR1L1	74023956	1.000000	0.71417	0.367000	0.25926	0.270000	0.26580	5.165000	0.64959	1.876000	0.54355	0.459000	0.35465	TGC		0.328	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		G	75737689	T	G	75737689	3	3	423	1	0	0	0	0	1	0	0	0	6444	1464	51	5	397	5	GLIPR1L1	12	75737689	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08		75737689	58114206	57	23145											
MGAT4C	25834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	86373140	86373140	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr12:86373140C>T	ENST00000604798.1	-	8	2568	c.1364G>A	c.(1363-1365)tGt>tAt	p.C455Y	MGAT4C_ENST00000552808.2_Missense_Mutation_p.C455Y|MGAT4C_ENST00000549405.2_Missense_Mutation_p.C455Y|MGAT4C_ENST00000393205.2_Missense_Mutation_p.C484Y|MGAT4C_ENST00000548651.1_Missense_Mutation_p.C455Y|MGAT4C_ENST00000332156.1_Missense_Mutation_p.C455Y			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	455					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.C455Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TATCCTCATACAATGTATATC	0.308																																																1	Substitution - Missense(1)	kidney(1)											78	78	78					12																	86373140		2203	4300	6503	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1364G>A	12.37:g.86373140C>T	ENSP00000474896:p.Cys455Tyr		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764773	0.69878	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	T;T;T;T;T	0.36340	1.3;1.26;1.3;1.3;1.3	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69495	-0.5130	10	0.72032	D	0.01	-10.3016	19.9607	0.97248	0.0:1.0:0.0:0.0	.	484;455	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	Y	455;484;455;455;455;455	ENSP00000331664:C455Y;ENSP00000376900:C484Y;ENSP00000449022:C455Y;ENSP00000446647:C455Y;ENSP00000447253:C455Y	ENSP00000331664:C455Y	C	-	2	0	MGAT4C	84897271	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	TGT		0.308	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		T	86373140	C	T	86373140	3	4	423	1	0	0	0	0	1	0	0	0	9549	478	17	2	76	2	MGAT4C	12	86373140	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	10635451	86373140	47478755	58	23146											
UBE3B	89910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109967774	109967774	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr12:109967774T>A	ENST00000342494.3	+	25	3302	c.2707T>A	c.(2707-2709)Ttc>Atc	p.F903I	UBE3B_ENST00000535089.1_5'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.F903I	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	903	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F903I(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CATTAGCGGATTCCGTTCCAT	0.443																																																1	Substitution - Missense(1)	kidney(1)											182	157	165					12																	109967774		2203	4300	6503	SO:0001583	missense	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2707T>A	12.37:g.109967774T>A	ENSP00000340596:p.Phe903Ile		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	T	34	5.387734	0.95988	.	.	ENSG00000151148	ENST00000434735;ENST00000342494;ENST00000538070	T;T	0.60548	0.18;0.18	5.95	5.95	0.96441	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.81914	0.851;0.995	T	0.81758	-0.0786	10	0.45353	T	0.12	-2.5936	15.5904	0.76523	0.0:0.0:0.0:1.0	.	198;903	F5H2J2;Q7Z3V4	.;UBE3B_HUMAN	I	903;903;198	ENSP00000391529:F903I;ENSP00000340596:F903I	ENSP00000340596:F903I	F	+	1	0	UBE3B	108452157	1.000000	0.71417	0.934000	0.37439	0.988000	0.76386	7.614000	0.82996	2.276000	0.75962	0.460000	0.39030	TTC		0.443	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		A	109967774	T	A	109967774	3	1	423	1	0	0	0	0	1	0	0	0	16885	1493	52	5	2797	5	UBE3B	12	109967774	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08	23594634	109967774	23884121	59	23147											
OR4K13	390433	broad.mit.edu;ucsc.edu	37	14	20502565	20502565	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr14:20502565A>G	ENST00000315693.2	-	1	354	c.353T>C	c.(352-354)aTg>aCg	p.M118T	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M118T(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTCTATTGCCATGGCTACAAG	0.493																																																1	Substitution - Missense(1)	kidney(1)											102	99	100					14																	20502565		2203	4300	6503	SO:0001583	missense	390433				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.353T>C	14.37:g.20502565A>G	ENSP00000319322:p.Met118Thr		Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	10.87	1.471762	0.26423	.	.	ENSG00000176253	ENST00000315693	T	0.01145	5.27	3.6	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	U	0.000235	T	0.04048	0.0113	H	0.97186	3.955	0.30516	N	0.768964	P	0.39883	0.693	B	0.38500	0.275	T	0.02596	-1.1136	10	0.72032	D	0.01	.	7.789	0.29108	0.8937:0.0:0.1063:0.0	.	118	Q8NH42	OR4KD_HUMAN	T	118	ENSP00000319322:M118T	ENSP00000319322:M118T	M	-	2	0	OR4K13	19572405	1.000000	0.71417	0.968000	0.41197	0.031000	0.12232	7.843000	0.86859	0.462000	0.27095	0.416000	0.27883	ATG		0.493	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			G	20502565	A	G	20502565	3	3	423	1	0	0	0	0	1	0	0	0	11070	217	8	3	563	3	OR4K13	14	20502565	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08		20502565	86846975	60	23148											
PDIA3	2923	broad.mit.edu;hgsc.bcm.edu	37	15	44060741	44060741	+	Silent	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr15:44060741G>A	ENST00000300289.5	+	9	1231	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	PDIA3_ENST00000538521.1_Silent_p.L341L	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	361	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.L361L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ATGGCAATCTGAAGAGATACC	0.488																																																1	Substitution - coding silent(1)	kidney(1)											118	118	118					15																	44060741		2198	4296	6494	SO:0001819	synonymous_variant	2923				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.1083G>A	15.37:g.44060741G>A			Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	ENST00000300289.5	37	CCDS10101.1																																																																																				0.488	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		A	44060741	G	A	44060741	2	1	423	1	0	0	0	0	0	0	0	1	11671	1277	45	2		2	PDIA3	15	44060741	Silent	SNP	G	TCGA-BP-5173-01A-01D-1429-08		44060741	58470651	61	23149											
SPATA5L1	79029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45706846	45706846	+	Silent	SNP	T	T	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr15:45706846T>C	ENST00000305560.6	+	4	1611	c.1512T>C	c.(1510-1512)taT>taC	p.Y504Y	SPATA5L1_ENST00000559860.1_Silent_p.Y504Y	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	504						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.Y504Y(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TTCTCCTCTATGGGCCCCCTG	0.498																																																1	Substitution - coding silent(1)	kidney(1)											80	75	77					15																	45706846		2198	4298	6496	SO:0001819	synonymous_variant	79029			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1512T>C	15.37:g.45706846T>C			C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	CCDS10123.1																																																																																				0.498	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		C	45706846	T	C	45706846	2	2	423	1	0	0	0	0	0	0	0	1	15017	1471	51	3		3	SPATA5L1	15	45706846	Silent	SNP	T	TCGA-BP-5173-01A-01D-1429-08	1646105	45706846	56824546	62	23150											
PRTG	283659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56032778	56032778	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr15:56032778G>A	ENST00000561292.1	-	2	357	c.199C>T	c.(199-201)Cct>Tct	p.P67S	PRTG_ENST00000389286.4_Missense_Mutation_p.P67S					protogenin									p.P67S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACCTTAATAGGAACTTCTCCG	0.423																																																1	Substitution - Missense(1)	kidney(1)											141	137	138					15																	56032778		1845	4093	5938	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.199C>T	15.37:g.56032778G>A	ENSP00000453335:p.Pro67Ser			Missense_Mutation	SNP	ENST00000561292.1	37		.	.	.	.	.	.	.	.	.	.	G	24.2	4.503011	0.85176	.	.	ENSG00000166450	ENST00000389286	T	0.66638	-0.22	5.82	5.82	0.92795	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000003	T	0.76793	0.4037	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71919	-0.4447	10	0.29301	T	0.29	-14.6247	18.6661	0.91491	0.0:0.0:1.0:0.0	.	67	Q2VWP7	PRTG_HUMAN	S	67	ENSP00000373937:P67S	ENSP00000373937:P67S	P	-	1	0	PRTG	53820070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.739000	0.93911	0.655000	0.94253	CCT		0.423	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419360.1	NM_173814		A	56032778	G	A	56032778	3	1	423	1	0	0	0	0	1	0	0	0	12643	1174	41	2	3329	2	PRTG	15	56032778	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	10325932	56032778	46498614	63	23151											
GLCE	26035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	69561171	69561171	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr15:69561171C>G	ENST00000261858.2	+	5	1670	c.1442C>G	c.(1441-1443)tCt>tGt	p.S481C	GLCE_ENST00000559420.2_Missense_Mutation_p.S417C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	481					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)	p.S481C(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						AAGTTTCTATCTGAGCAGCAT	0.378																																																1	Substitution - Missense(1)	kidney(1)											57	64	62					15																	69561171		2200	4298	6498	SO:0001583	missense	26035			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1442C>G	15.37:g.69561171C>G	ENSP00000261858:p.Ser481Cys		Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278551	0.40294	.	.	ENSG00000138604	ENST00000261858	T	0.48201	0.82	5.01	5.01	0.66863	.	0.061993	0.64402	D	0.000002	T	0.67571	0.2907	M	0.75777	2.31	0.80722	D	1	D	0.65815	0.995	D	0.64321	0.924	T	0.71842	-0.4470	10	0.72032	D	0.01	-16.3884	17.2305	0.86983	0.0:1.0:0.0:0.0	.	481	O94923	GLCE_HUMAN	C	481	ENSP00000261858:S481C	ENSP00000261858:S481C	S	+	2	0	GLCE	67348225	1.000000	0.71417	0.277000	0.24703	0.125000	0.20455	7.663000	0.83820	2.479000	0.83701	0.557000	0.71058	TCT		0.378	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		G	69561171	C	G	69561171	3	3	423	1	0	0	0	0	1	0	0	0	6434	913	32	4	1452	4	GLCE	15	69561171	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	13528393	69561171	32970221	64	23152											
LASS3	204219	broad.mit.edu;hgsc.bcm.edu	37	15	100943022	100943022	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr15:100943022C>G	ENST00000394113.1	-	14	1738	c.1048G>C	c.(1048-1050)Gaa>Caa	p.E350Q	CERS3_ENST00000538112.2_Missense_Mutation_p.E350Q|CERS3_ENST00000284382.4_Missense_Mutation_p.E350Q|RP11-168G16.2_ENST00000560718.1_RNA|RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000560944.1_5'UTR			Q8IU89	CERS3_HUMAN	ceramide synthase 3	350	Poly-Glu.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.E350Q(1)									tcttcctcttcctcttcctct	0.483																																																1	Substitution - Missense(1)	kidney(1)											115	86	96					15																	100943022		2203	4300	6503	SO:0001583	missense	0				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.1048G>C	15.37:g.100943022C>G	ENSP00000377672:p.Glu350Gln		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	1.860	-0.462969	0.04476	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.08193	3.12;3.12	3.29	2.36	0.29203	.	0.560003	0.16831	N	0.197775	T	0.14874	0.0359	M	0.83483	2.645	0.09310	N	1	P	0.51933	0.949	P	0.46825	0.528	T	0.10064	-1.0646	10	0.37606	T	0.19	.	6.6584	0.23000	0.0:0.8624:0.0:0.1376	.	350	Q8IU89	CERS3_HUMAN	Q	350;361;350	ENSP00000284382:E350Q;ENSP00000437640:E350Q	ENSP00000284382:E350Q	E	-	1	0	CERS3	98760545	0.032000	0.19561	0.235000	0.24058	0.001000	0.01503	1.263000	0.33004	0.696000	0.31696	-0.157000	0.13467	GAA		0.483	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		G	100943022	C	G	100943022	3	3	423	1	0	0	0	0	1	0	0	0	8642	864	30	4	107	4	LASS3	15	100943022	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	31381851	100943022	1588370	65	23153											
CHST4	10164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71570904	71570904	+	Silent	SNP	C	C	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr16:71570904C>A	ENST00000338482.5	+	3	667	c.324C>A	c.(322-324)gtC>gtA	p.V108V	CHST4_ENST00000572450.1_Silent_p.V108V|CHST4_ENST00000539698.3_Silent_p.V108V|RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	108					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.V108V(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACATGAGCGTCTTTGATGCCT	0.592																																																1	Substitution - coding silent(1)	kidney(1)											86	89	88					16																	71570904		2198	4300	6498	SO:0001819	synonymous_variant	10164			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.324C>A	16.37:g.71570904C>A			Q8IV46|Q9Y5R3	Silent	SNP	ENST00000338482.5	37	CCDS10902.1																																																																																				0.592	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		A	71570904	C	A	71570904	2	1	423	1	0	0	0	0	0	0	0	1	3408	900	32	4		4	CHST4	16	71570904	Silent	SNP	C	TCGA-BP-5173-01A-01D-1429-08		71570904	18783849	66	23154											
CHST5	23563	hgsc.bcm.edu	37	16	75564068	75564068	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr16:75564068C>T	ENST00000336257.3	-	3	1609	c.215G>A	c.(214-216)cGc>cAc	p.R72H	CHST5_ENST00000541075.1_Missense_Mutation_p.R78H|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	72					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TGAGCCCGAGCGCCACGAGGA	0.667																																																0													43	38	40					16																	75564068		2198	4300	6498	SO:0001583	missense	23563			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.215G>A	16.37:g.75564068C>T	ENSP00000338783:p.Arg72His		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986655	0.53934	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.39406	1.08;1.08	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	M	0.90870	3.155	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77094	-0.2715	10	0.87932	D	0	.	12.3965	0.55389	0.0:1.0:0.0:0.0	.	78;72	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	H	72;78	ENSP00000338783:R72H;ENSP00000441220:R78H	ENSP00000338783:R72H	R	-	2	0	CHST5	74121569	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	5.644000	0.67902	1.514000	0.48869	0.313000	0.20887	CGC		0.667	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		T	75564068	C	T	75564068	3	4	423	1	0	0	0	0	1	0	0	0	3409	768	27	1	1024	1	CHST5	16	75564068	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	3993164	75564068	14790685	67	23155											
MAF	4094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	79633710	79633710	+	Silent	SNP	A	A	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr16:79633710A>G	ENST00000393350.1	-	1	901	c.90T>C	c.(88-90)ttT>ttC	p.F30F	MAF_ENST00000326043.4_Silent_p.F30F|MAF_ENST00000569649.1_Silent_p.F30F	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	30					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F30F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		TTTTCACTTCAAACTTCATCA	0.582			T	IGH@	MM																																		Dom	yes		16	16q22-q23	4094	v-maf musculoaponeurotic fibrosarcoma oncogene homolog		L	1	Substitution - coding silent(1)	kidney(1)											36	43	41					16																	79633710		2198	4299	6497	SO:0001819	synonymous_variant	4094				CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.90T>C	16.37:g.79633710A>G			Q66I47|Q9UP93	Silent	SNP	ENST00000393350.1	37	CCDS42198.1																																																																																				0.582	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			G	79633710	A	G	79633710	2	3	423	1	0	0	0	0	0	0	0	1	9157	127	5	3		3	MAF	16	79633710	Silent	SNP	A	TCGA-BP-5173-01A-01D-1429-08	4069642	79633710	10721043	68	23156											
OR1D2	4991	broad.mit.edu;hgsc.bcm.edu	37	17	2996190	2996190	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr17:2996190A>G	ENST00000331459.1	-	1	100	c.101T>C	c.(100-102)aTg>aCg	p.M34T		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	34					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M34T(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GACCAGGTACATGGACAGGAA	0.557																																																1	Substitution - Missense(1)	kidney(1)											116	109	111					17																	2996190		2203	4300	6503	SO:0001583	missense	4991			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.101T>C	17.37:g.2996190A>G	ENSP00000327585:p.Met34Thr		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356050	0.24598	.	.	ENSG00000184166	ENST00000331459	T	0.00433	7.43	3.42	3.42	0.39159	.	.	.	.	.	T	0.00356	0.0011	L	0.49350	1.555	0.25155	N	0.990397	B	0.33103	0.397	B	0.28011	0.085	T	0.46020	-0.9221	9	0.62326	D	0.03	.	10.8068	0.46522	1.0:0.0:0.0:0.0	.	34	P34982	OR1D2_HUMAN	T	34	ENSP00000327585:M34T	ENSP00000327585:M34T	M	-	2	0	OR1D2	2942940	0.251000	0.23961	0.996000	0.52242	0.539000	0.34962	3.790000	0.55461	1.407000	0.46875	0.443000	0.29094	ATG		0.557	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		G	2996190	A	G	2996190	3	3	423	1	0	0	0	0	1	0	0	0	10955	217	8	3	840	3	OR1D2	17	2996190	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08		2996190	78199020	69	23157											
C17orf98	388381	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36997521	36997521	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr17:36997521G>A	ENST00000398575.4	-	1	187	c.122C>T	c.(121-123)cCg>cTg	p.P41L		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	41								p.P41L(2)		endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						GTTGTAGGGCGGAATCGCCGA	0.617																																																2	Substitution - Missense(2)	prostate(1)|kidney(1)											54	55	55					17																	36997521		1998	4178	6176	SO:0001583	missense	388381			AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.122C>T	17.37:g.36997521G>A	ENSP00000381580:p.Pro41Leu			Missense_Mutation	SNP	ENST00000398575.4	37	CCDS42310.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108975	0.77096	.	.	ENSG00000214556	ENST00000398575	T	0.51574	0.7	5.16	5.16	0.70880	.	0.000000	0.39020	U	0.001482	T	0.68192	0.2974	M	0.71036	2.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.71080	-0.4696	10	0.87932	D	0	-17.5062	16.1916	0.81992	0.0:0.0:1.0:0.0	.	41	A8MV24	CQ098_HUMAN	L	41	ENSP00000381580:P41L	ENSP00000381580:P41L	P	-	2	0	C17orf98	34251047	1.000000	0.71417	0.984000	0.44739	0.484000	0.33280	6.015000	0.70791	2.687000	0.91594	0.462000	0.41574	CCG		0.617	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255469.2	NM_001080465		A	36997521	G	A	36997521	3	1	423	1	0	0	0	0	1	0	0	0	1895	1116	39	1	354	1	C17orf98	17	36997521	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	34001331	36997521	44197689	70	23158											
C17orf53	78995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42232723	42232723	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr17:42232723T>A	ENST00000319977.4	+	8	1954	c.1717T>A	c.(1717-1719)Tac>Aac	p.Y573N	C17orf53_ENST00000245382.6_Missense_Mutation_p.Y497N|C17orf53_ENST00000585683.1_Missense_Mutation_p.Y572N	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	573								p.Y573N(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGTCCATATTTACAGCCCGGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											119	104	109					17																	42232723		2203	4300	6503	SO:0001583	missense	78995			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1717T>A	17.37:g.42232723T>A	ENSP00000313500:p.Tyr573Asn		A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.968011	0.92855	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.59772	0.24;0.49	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.76328	2.33	0.51767	D	0.99993	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.992;0.999	T	0.78974	-0.1992	10	0.87932	D	0	-13.2721	15.4388	0.75168	0.0:0.0:0.0:1.0	.	572;497;573	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	N	573;497	ENSP00000313500:Y573N;ENSP00000245382:Y497N	ENSP00000245382:Y497N	Y	+	1	0	C17orf53	39588249	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	7.483000	0.81158	2.289000	0.77006	0.459000	0.35465	TAC		0.522	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		A	42232723	T	A	42232723	3	1	423	1	0	0	0	0	1	0	0	0	1864	1754	61	5	1747	5	C17orf53	17	42232723	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08	5235202	42232723	38962487	71	23159											
ZNF652	22834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	47388778	47388778	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr17:47388778G>T	ENST00000362063.2	-	5	1523	c.1205C>A	c.(1204-1206)tCc>tAc	p.S402Y	ZNF652_ENST00000430262.2_Missense_Mutation_p.S402Y	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S402Y(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GCTCATGTGGGAGCGTAGCTG	0.453																																																1	Substitution - Missense(1)	kidney(1)											278	241	253					17																	47388778		2203	4300	6503	SO:0001583	missense	22834			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1205C>A	17.37:g.47388778G>T	ENSP00000354686:p.Ser402Tyr		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756447	0.89843	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08008	3.14;3.14	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	L	0.43923	1.385	0.58432	D	0.999999	D	0.69078	0.997	D	0.65573	0.936	T	0.00093	-1.2081	10	0.54805	T	0.06	-15.9998	19.2339	0.93850	0.0:0.0:1.0:0.0	.	402	Q9Y2D9	ZN652_HUMAN	Y	402	ENSP00000354686:S402Y;ENSP00000416305:S402Y	ENSP00000354686:S402Y	S	-	2	0	ZNF652	44743777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.696000	0.84270	2.642000	0.89623	0.650000	0.86243	TCC		0.453	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		T	47388778	G	T	47388778	3	4	423	1	0	0	0	0	1	0	0	0	18070	1174	41	4	623	4	ZNF652	17	47388778	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	5156055	47388778	33806432	72	23160											
BZRAP1	9256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56395795	56395796	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr17:56395795_56395796CC>TT	ENST00000343736.4	-	14	1880_1881	c.1717_1718GG>AA	c.(1717-1719)GGc>AAc	p.G573N	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G513N|BZRAP1_ENST00000355701.3_Missense_Mutation_p.G573N			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	573						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.G573D(2)|p.G573S(2)|p.G573>?(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCAGGGGAGCCCGGCGGGAGG	0.624																																																6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1717_1718delinsTT	17.37:g.56395795_56395796delinsTT	ENSP00000345824:p.Gly573Asn		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1																																																																																				0.624	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		TT	56395796	CC	TT	56395795	3	4	423	1	0	0	0	0	1	0	0	0	1579	739	26	2	3927	2	BZRAP1	17	56395795	Missense_Mutation	DNP	CC	TCGA-BP-5173-01A-01D-1429-08	9007017	56395795	24799415	73	23161											
COG1	9382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	71197742	71197742	+	Silent	SNP	T	T	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr17:71197742T>C	ENST00000299886.4	+	7	1856	c.1776T>C	c.(1774-1776)atT>atC	p.I592I		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	592					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.I592I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TACAGAGCATTGAAGAGGGTG	0.587																																																1	Substitution - coding silent(1)	kidney(1)											81	65	70					17																	71197742		2203	4300	6503	SO:0001819	synonymous_variant	9382				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1776T>C	17.37:g.71197742T>C			Q9NPV9|Q9P2G6	Silent	SNP	ENST00000299886.4	37	CCDS11692.1																																																																																				0.587	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			C	71197742	T	C	71197742	2	2	423	1	0	0	0	0	0	0	0	1	3659	1800	63	3		3	COG1	17	71197742	Silent	SNP	T	TCGA-BP-5173-01A-01D-1429-08	14801947	71197742	9997468	74	23162											
THOC1	9984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	214641	214641	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr18:214641A>C	ENST00000261600.6	-	21	1966	c.1959T>G	c.(1957-1959)aaT>aaG	p.N653K		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	653	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.N653K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TATTTGTCTCATTGTCATTAG	0.348																																																1	Substitution - Missense(1)	kidney(1)											81	76	78					18																	214641		1844	4086	5930	SO:0001583	missense	9984			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1959T>G	18.37:g.214641A>C	ENSP00000261600:p.Asn653Lys		B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	A	4.028	0.002698	0.07866	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.03	3.7	0.42460	Death (2);	0.377447	0.29307	N	0.012524	T	0.14743	0.0356	N	0.02539	-0.55	0.27466	N	0.953008	B	0.12013	0.005	B	0.19391	0.025	T	0.16335	-1.0406	9	0.27785	T	0.31	-12.9865	8.9537	0.35805	0.7922:0.0:0.2078:0.0	.	653	Q96FV9	THOC1_HUMAN	K	653	.	ENSP00000261600:N653K	N	-	3	2	THOC1	204641	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.461000	0.21940	1.102000	0.41551	0.533000	0.62120	AAT		0.348	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		C	214641	A	C	214641	3	2	423	1	0	0	0	0	1	0	0	0	15869	214	8	5	18	5	THOC1	18	214641	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08		214641	77862607	75	23163											
MYO5B	4645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	47463681	47463681	+	Silent	SNP	G	G	A	rs577718838		TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr18:47463681G>A	ENST00000285039.7	-	15	2138	c.1839C>T	c.(1837-1839)agC>agT	p.S613S		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	613	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.S613S(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGAACGGACGCTGATCTTCG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18484	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	kidney(1)											97	97	97					18																	47463681		1984	4172	6156	SO:0001819	synonymous_variant	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1839C>T	18.37:g.47463681G>A			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																				0.547	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			A	47463681	G	A	47463681	2	1	423	1	0	0	0	0	0	0	0	1	10081	1078	38	1		1	MYO5B	18	47463681	Silent	SNP	G	TCGA-BP-5173-01A-01D-1429-08	47249040	47463681	30613567	76	23164											
SERPINB5	5268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61154236	61154236	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr18:61154236G>A	ENST00000382771.4	+	3	518	c.226G>A	c.(226-228)Gat>Aat	p.D76N	RP11-635N19.3_ENST00000602456.1_RNA|SERPINB5_ENST00000489441.1_Missense_Mutation_p.D76N	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	76					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D76N(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AGTAACATCGGATGTAAACAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											108	107	107					18																	61154236		2203	4299	6502	SO:0001583	missense	5268			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.226G>A	18.37:g.61154236G>A	ENSP00000372221:p.Asp76Asn		B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523709	0.85600	.	.	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.84223	-1.82;-1.82	5.32	5.32	0.75619	Serpin domain (3);	0.000000	0.64402	D	0.000001	D	0.88808	0.6537	L	0.51422	1.61	0.54753	D	0.999984	D;B	0.60160	0.987;0.072	P;B	0.58210	0.835;0.037	D	0.88718	0.3227	10	0.51188	T	0.08	.	18.1356	0.89618	0.0:0.0:1.0:0.0	.	76;76	P36952;P36952-2	SPB5_HUMAN;.	N	76	ENSP00000372221:D76N;ENSP00000408821:D76N	ENSP00000372221:D76N	D	+	1	0	SERPINB5	59305216	1.000000	0.71417	0.908000	0.35775	0.820000	0.46376	5.984000	0.70548	2.659000	0.90383	0.650000	0.86243	GAT		0.353	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		A	61154236	G	A	61154236	3	1	423	1	0	0	0	0	1	0	0	0	14110	1174	41	2	232	2	SERPINB5	18	61154236	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	13690555	61154236	16923012	77	23165											
TMEM146	257062	hgsc.bcm.edu;ucsc.edu	37	19	5749189	5749191	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	ATC	ATC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr19:5749189_5749191delATC	ENST00000381624.3	+	11	1043_1045	c.982_984delATC	c.(982-984)atcdel	p.I328del	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	328					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											AAGTTCCATAATCAAAGTAGGTA	0.468																																																0																																										SO:0001651	inframe_deletion	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.982_984delATC	19.37:g.5749189_5749191delATC	ENSP00000371037:p.Ile328del		Q6ZRP1	In_Frame_Del	DEL	ENST00000381624.3	37	CCDS12149.2																																																																																				0.468	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		-	5749191	ATC	-	5749189	7	5	423	1	0	1	0	1	0	0	0	0	16065	101	4	0	1024	0	TMEM146	19	5749189	In_Frame_Del	DEL	ATC	TCGA-BP-5173-01A-01D-1429-08		5749189	53379794	78	23166											
ZNF560	147741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9578114	9578114	+	Silent	SNP	A	A	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr19:9578114A>C	ENST00000301480.4	-	10	1722	c.1509T>G	c.(1507-1509)ctT>ctG	p.L503L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L503L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AATGAGCAAAAAGAGATGAGA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											123	130	128					19																	9578114		2203	4300	6503	SO:0001819	synonymous_variant	147741			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1509T>G	19.37:g.9578114A>C			Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	CCDS12214.1																																																																																				0.408	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		C	9578114	A	C	9578114	2	2	423	1	0	0	0	0	0	0	0	1	17996	1	1	5		5	ZNF560	19	9578114	Silent	SNP	A	TCGA-BP-5173-01A-01D-1429-08	3828925	9578114	49550869	79	23167											
PLVAP	83483	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17487791	17487791	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr19:17487791G>T	ENST00000252590.4	-	1	368	c.307C>A	c.(307-309)Ctg>Atg	p.L103M		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	103					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.L103M(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGAGCATTCAGCCACATCTGC	0.627																																																1	Substitution - Missense(1)	kidney(1)											115	99	105					19																	17487791		2203	4300	6503	SO:0001583	missense	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.307C>A	19.37:g.17487791G>T	ENSP00000252590:p.Leu103Met		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078539	0.36662	.	.	ENSG00000130300	ENST00000252590	T	0.31510	1.49	4.77	-9.02	0.00741	.	2.797130	0.01103	N	0.005439	T	0.17916	0.0430	N	0.19112	0.55	0.09310	N	1	P	0.41710	0.76	B	0.41440	0.357	T	0.39820	-0.9595	10	0.45353	T	0.12	-9.4517	5.8504	0.18689	0.0809:0.5311:0.1759:0.2121	.	103	Q9BX97	PLVAP_HUMAN	M	103	ENSP00000252590:L103M	ENSP00000252590:L103M	L	-	1	2	PLVAP	17348791	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.638000	0.24674	-0.802000	0.04421	-0.311000	0.09066	CTG		0.627	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		T	17487791	G	T	17487791	3	4	423	1	0	0	0	0	1	0	0	0	12118	962	34	4	1045	4	PLVAP	19	17487791	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	7909677	17487791	41641192	80	23168											
MAP1S	55201	broad.mit.edu	37	19	17836823	17836823	+	Silent	SNP	C	C	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr19:17836823C>T	ENST00000324096.4	+	5	781	c.630C>T	c.(628-630)ttC>ttT	p.F210F	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.F184F|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	210	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.F210F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGTGCGAATTCCTGGAGTACG	0.711																																																1	Substitution - coding silent(1)	kidney(1)											24	25	25					19																	17836823		2201	4299	6500	SO:0001819	synonymous_variant	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.630C>T	19.37:g.17836823C>T			B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	CCDS32954.1																																																																																				0.711	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		T	17836823	C	T	17836823	2	4	423	1	0	0	0	0	0	0	0	1	9236	854	30	2		2	MAP1S	19	17836823	Silent	SNP	C	TCGA-BP-5173-01A-01D-1429-08	349032	17836823	41292160	81	23169											
KIAA1683	80726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18376414	18376414	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr19:18376414G>C	ENST00000600328.3	-	3	2129	c.1936C>G	c.(1936-1938)Cac>Gac	p.H646D	KIAA1683_ENST00000600359.3_Missense_Mutation_p.H600D|KIAA1683_ENST00000392413.4_Missense_Mutation_p.H646D			Q9H0B3	K1683_HUMAN	KIAA1683	646						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.H646D(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACATACACGTGAGGTGGCTTG	0.577																																																2	Substitution - Missense(2)	kidney(2)											74	66	69					19																	18376414		2203	4300	6503	SO:0001583	missense	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1936C>G	19.37:g.18376414G>C	ENSP00000470780:p.His646Asp		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	8.230	0.804509	0.16467	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634	T;T;T	0.03689	3.92;3.92;3.84	4.36	0.919	0.19392	.	1.105830	0.07154	N	0.849612	T	0.03095	0.0091	L	0.36672	1.1	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.12837	0.008;0.008	T	0.49762	-0.8905	10	0.12766	T	0.61	-2.006	3.265	0.06861	0.2263:0.0:0.556:0.2177	.	646;646	E9PDE0;Q9H0B3	.;K1683_HUMAN	D	646;646;600	ENSP00000376213:H646D;ENSP00000352774:H646D;ENSP00000404501:H600D	ENSP00000352774:H646D	H	-	1	0	KIAA1683	18237414	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.948000	0.29096	0.359000	0.24239	-0.136000	0.14681	CAC		0.577	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			C	18376414	G	C	18376414	3	2	423	1	0	0	0	0	1	0	0	0	8253	1290	45	4	2175	4	KIAA1683	19	18376414	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	539591	18376414	40752569	82	23170											
DPY19L3	147991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	32968514	32968514	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr19:32968514A>G	ENST00000342179.5	+	17	1999	c.1784A>G	c.(1783-1785)aAc>aGc	p.N595S	DPY19L3_ENST00000392250.2_Missense_Mutation_p.N595S|DPY19L3_ENST00000586987.1_Missense_Mutation_p.N595S	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	595						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.N595S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					ACCCTAACCAACCACCCGCAC	0.582																																																1	Substitution - Missense(1)	kidney(1)											125	107	113					19																	32968514		2203	4300	6503	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1784A>G	19.37:g.32968514A>G	ENSP00000344937:p.Asn595Ser		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.741810	0.69304	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.58506	0.33;0.33	5.4	5.4	0.78164	.	0.112895	0.64402	D	0.000016	T	0.72220	0.3433	M	0.62209	1.925	0.53688	D	0.999978	D	0.89917	1.0	D	0.87578	0.998	T	0.69702	-0.5074	10	0.27785	T	0.31	-16.2025	15.4079	0.74893	1.0:0.0:0.0:0.0	.	595	Q6ZPD9	D19L3_HUMAN	S	595	ENSP00000376081:N595S;ENSP00000344937:N595S	ENSP00000344937:N595S	N	+	2	0	DPY19L3	37660354	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.310000	0.72830	2.046000	0.60703	0.460000	0.39030	AAC		0.582	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		G	32968514	A	G	32968514	3	3	423	1	0	0	0	0	1	0	0	0	4744	43	2	3	1846	3	DPY19L3	19	32968514	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08	14592100	32968514	26160469	83	23171											
ARHGAP33	115703	hgsc.bcm.edu;ucsc.edu	37	19	36275074	36275074	+	Splice_Site	SNP	G	G	A	rs62112163	byFrequency	TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr19:36275074G>A	ENST00000007510.4	+	16	1566	c.1422G>A	c.(1420-1422)cgG>cgA	p.R474R	ARHGAP33_ENST00000378944.5_Splice_Site_p.R338R|ARHGAP33_ENST00000314737.5_Splice_Site_p.R474R			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	474	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.R474R(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCCCACCCAGGTCCATGGAGC	0.652													G|||	918	0.183307	0.0862	0.1715	5008	,	,		12087	0.1518		0.1829	False		,,,				2504	0.3558															1	Substitution - coding silent(1)	stomach(1)						G	,	443,3963	211.8+/-231.9	13,417,1773	122	113	116		1014,1422	3.8	1	19	dbSNP_129	116	1631,6967	300.1+/-304.8	146,1339,2814	no	coding-synonymous-near-splice,coding-synonymous-near-splice	ARHGAP33	NM_001172630.1,NM_052948.3	,	159,1756,4587	AA,AG,GG		18.9695,10.0545,15.9489	,	338/1124,474/1127	36275074	2074,10930	2203	4299	6502	SO:0001630	splice_region_variant	115703			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1422-1G>A	19.37:g.36275074G>A			O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37																																																																																					0.652	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948	Silent	A	36275074	G	A	36275074	5	1	423	1	0	0	0	0	0	0	1	0	882	1275	44	2	1484	2	ARHGAP33	19	36275074	Splice_Site	SNP	G	TCGA-BP-5173-01A-01D-1429-08	3306560	36275074	22853909	84	23172											
ZNF761	388561	broad.mit.edu;hgsc.bcm.edu	37	19	53958116	53958116	+	RNA	SNP	T	T	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr19:53958116T>A	ENST00000454407.1	+	0	808							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L65M(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AATCAAAAAGTTGACAGGTAT	0.368																																																1	Substitution - Missense(1)	kidney(1)											88	88	88					19																	53958116		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958116T>A			Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37																																																																																					0.368	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		A	53958116	T	A	53958116	1	1	423	0	1	0	0	0	0	0	0	0	18141	1722	60	5		5	ZNF761	19	53958116	RNA	SNP	T	TCGA-BP-5173-01A-01D-1429-08	17683042	53958116	5170867	85	23173											
LILRB3	11025	hgsc.bcm.edu	37	19	54726241	54726241	+	Missense_Mutation	SNP	C	C	T	rs77279742	byFrequency	TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr19:54726241C>T	ENST00000391750.1	-	4	400	c.264G>A	c.(262-264)atG>atA	p.M88I	LILRB3_ENST00000245620.9_Missense_Mutation_p.M88I|LILRB3_ENST00000424807.1_Missense_Mutation_p.M88I|LILRA6_ENST00000391735.3_Intron|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.M88I|LILRB3_ENST00000469273.1_5'Flank|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	88	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGCTCTGTCATGGATGGGA	0.562													.|||	2272	0.453674	0.5325	0.4265	5008	,	,		12679	0.4871		0.4046	False		,,,				2504	0.3824															0								C	ILE/MET,ILE/MET	2307,1735		841,625,555	85	121	109		264,264	0.8	0	19	dbSNP_131	109	3530,4528		697,2136,1196	no	missense,missense	LILRB3	NM_001081450.1,NM_006864.2	10,10	1538,2761,1751	TT,TC,CC		43.8074,42.9243,48.2397	benign,benign	88/633,88/632	54726241	5837,6263	2021	4029	6050	SO:0001583	missense	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.264G>A	19.37:g.54726241C>T	ENSP00000375630:p.Met88Ile		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	930	0.4258241758241758	254	0.516260162601626	141	0.38950276243093923	263	0.4597902097902098	272	0.35883905013192613	C	4.046	0.006136	0.07866	0.570757	0.438074	ENSG00000204577	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000445347	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	3.08	0.77	0.18497	Immunoglobulin-like fold (1);	0.442058	0.21614	N	0.071749	T	0.00012	0.0000	M	0.75884	2.315	0.80722	P	0.0	P;B	0.43352	0.804;0.06	B;B	0.35655	0.087;0.207	T	0.38993	-0.9635	9	0.23891	T	0.37	.	8.9029	0.35505	0.0:0.5451:0.4549:0.0	.	88;88	O75022;O75022-3	LIRB3_HUMAN;.	I	88	ENSP00000375630:M88I;ENSP00000412771:M88I;ENSP00000345184:M88I;ENSP00000245620:M88I;ENSP00000388199:M88I	ENSP00000245620:M88I	M	-	3	0	LILRB3	59418053	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.092000	0.15066	0.300000	0.22699	0.573000	0.79308	ATG		0.562	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		T	54726241	C	T	54726241	3	4	423	1	0	0	0	0	1	0	0	0	8794	826	29	2	1678	2	LILRB3	19	54726241	Missense_Mutation	SNP	C	TCGA-BP-5173-01A-01D-1429-08	768125	54726241	4402742	86	23174											
HMOX1	3162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	35783139	35783139	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr22:35783139G>T	ENST00000216117.8	+	3	945	c.606G>T	c.(604-606)gaG>gaT	p.E202D		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	202					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.E202D(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	TGATAGAAGAGGCCAAGACTG	0.602																																																1	Substitution - Missense(1)	kidney(1)											51	48	49					22																	35783139		2203	4300	6503	SO:0001583	missense	3162				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.606G>T	22.37:g.35783139G>T	ENSP00000216117:p.Glu202Asp			Missense_Mutation	SNP	ENST00000216117.8	37	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014498	0.54468	.	.	ENSG00000100292	ENST00000216117	T	0.34859	1.34	5.71	3.6	0.41247	Haem oxygenase-like, multi-helical (2);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	H	0.96547	3.84	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.76487	-0.2941	10	0.87932	D	0	-39.4503	10.1113	0.42563	0.2652:0.0:0.7348:0.0	.	202	P09601	HMOX1_HUMAN	D	202	ENSP00000216117:E202D	ENSP00000216117:E202D	E	+	3	2	HMOX1	34113139	1.000000	0.71417	0.999000	0.59377	0.046000	0.14306	1.900000	0.39828	1.417000	0.47077	0.655000	0.94253	GAG		0.602	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			T	35783139	G	T	35783139	3	4	423	1	0	0	0	0	1	0	0	0	7245	991	35	4	616	4	HMOX1	22	35783139	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08		35783139	15521427	87	23175											
FBLN1	2192	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45938163	45938163	+	Splice_Site	SNP	G	G	A			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chr22:45938163G>A	ENST00000327858.6	+	10	1290	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000402984.3_Splice_Site_p.D437N|FBLN1_ENST00000340923.5_Splice_Site_p.D399N|FBLN1_ENST00000442170.2_Splice_Site_p.D399N|FBLN1_ENST00000348697.2_Splice_Site_p.D399N|FBLN1_ENST00000262722.7_Splice_Site_p.D399N	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	399	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.D399N(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GATGTGTGTCGGTGCGTGGGG	0.612																																																3	Substitution - Missense(3)	kidney(3)											52	56	55					22																	45938163		2203	4300	6503	SO:0001630	splice_region_variant	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1195+1G>A	22.37:g.45938163G>A			B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204492	0.95033	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.88975	-2.25;-2.45;-2.45;-2.3;-2.45;-2.45	5.33	5.33	0.75918	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95695	0.8600	M	0.89658	3.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;1.0;0.999	D	0.96234	0.9170	10	0.87932	D	0	.	18.9792	0.92748	0.0:0.0:1.0:0.0	.	437;399;399;399	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	N	399;437;399;399;399;399	ENSP00000262723:D399N;ENSP00000385521:D437N;ENSP00000262722:D399N;ENSP00000331544:D399N;ENSP00000393812:D399N;ENSP00000342212:D399N	ENSP00000262722:D399N	D	+	1	0	FBLN1	44316827	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	9.294000	0.96088	2.644000	0.89710	0.655000	0.94253	GAT		0.612	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	Missense_Mutation	A	45938163	G	A	45938163	5	1	423	1	0	0	0	0	0	0	1	0	5700	1130	39	1	1233	1	FBLN1	22	45938163	Splice_Site	SNP	G	TCGA-BP-5173-01A-01D-1429-08	10155024	45938163	5366403	88	23176											
SAT1	6303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	23803813	23803814	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chrX:23803813_23803814GG>AA	ENST00000379270.4	+	6	535_536	c.356_357GG>AA	c.(355-357)aGG>aAA	p.R119K	SAT1_ENST00000379254.1_Missense_Mutation_p.R91K|SAT1_ENST00000489394.1_3'UTR|RP13-314C10.5_ENST00000366134.2_RNA	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.R119R(1)|p.R119K(1)|p.R119>?(1)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10						GTTGCAATGAGGTGTCGCTGCA	0.411																																																3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	6303			M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"diamine N-acetyltransferase 1"	313020	"spermidine/spermine N1-acetyltransferase"	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	Exception_encountered	X.37:g.23803813_23803814delinsAA	ENSP00000368572:p.Arg119Lys		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation|Silent	SNP	ENST00000379270.4	37	CCDS14207.1																																																																																				0.411	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056056.1	NM_002970		AA	23803814	GG	AA	23803813	3	1	423	1	0	0	0	0	1	0	0	0	13857	1000	35	2	378	2	SAT1	23	23803813	Missense_Mutation	DNP	GG	TCGA-BP-5173-01A-01D-1429-08		23803813	131466747	89	23177											
HDAC6	10013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48674583	48674583	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chrX:48674583T>C	ENST00000334136.5	+	18	1707	c.1529T>C	c.(1528-1530)aTc>aCc	p.I510T	HDAC6_ENST00000376619.2_Missense_Mutation_p.I510T|HDAC6_ENST00000444343.2_Missense_Mutation_p.I524T			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	510	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.I510T(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ATCTTGCGGATCATGTGCCGT	0.647																																					Pancreas(112;205 1675 2305 8976 15959)											1	Substitution - Missense(1)	kidney(1)											90	72	78					X																	48674583		2203	4300	6503	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1529T>C	X.37:g.48674583T>C	ENSP00000334061:p.Ile510Thr		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368102	0.61513	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72282	-0.64;-0.64;-0.64	5.85	5.85	0.93711	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.85701	0.1313	10	0.87932	D	0	-26.025	12.8912	0.58071	0.0:0.0:0.0:1.0	.	500;158;510	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	T	524;510;510;510	ENSP00000398566:I524T;ENSP00000334061:I510T;ENSP00000365804:I510T	ENSP00000334061:I510T	I	+	2	0	HDAC6	48559527	1.000000	0.71417	0.135000	0.22099	0.323000	0.28346	5.194000	0.65125	1.952000	0.56665	0.481000	0.45027	ATC		0.647	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		C	48674583	T	C	48674583	3	2	423	1	0	0	0	0	1	0	0	0	7013	1435	50	3	1595	3	HDAC6	23	48674583	Missense_Mutation	SNP	T	TCGA-BP-5173-01A-01D-1429-08	24870770	48674583	106595977	90	23178											
OGT	8473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	70756094	70756094	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chrX:70756094G>T	ENST00000373719.3	+	2	321	c.104G>T	c.(103-105)gGa>gTa	p.G35V	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Missense_Mutation_p.G25V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	35					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.G35V(1)|p.G25V(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TATCAGGCAGGAGATTTTGAG	0.453																																																2	Substitution - Missense(2)	kidney(2)											104	87	93					X																	70756094		2203	4300	6503	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.104G>T	X.37:g.70756094G>T	ENSP00000362824:p.Gly35Val		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.156000	0.57259	.	.	ENSG00000147162	ENST00000373719;ENST00000373701;ENST00000444774	T;T;T	0.73469	0.56;-0.75;0.67	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	L	0.47190	1.495	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.646	D;D;B	0.91635	0.974;0.999;0.227	D	0.84169	0.0433	10	0.62326	D	0.03	-6.7002	18.1204	0.89569	0.0:0.0:1.0:0.0	.	35;25;35	B4DTL6;O15294-3;O15294	.;.;OGT1_HUMAN	V	35;25;18	ENSP00000362824:G35V;ENSP00000362805:G25V;ENSP00000399729:G18V	ENSP00000362805:G25V	G	+	2	0	OGT	70672819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.551000	0.98112	2.471000	0.83476	0.600000	0.82982	GGA		0.453	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		T	70756094	G	T	70756094	3	4	423	1	0	0	0	0	1	0	0	0	10849	1174	41	4	110	4	OGT	23	70756094	Missense_Mutation	SNP	G	TCGA-BP-5173-01A-01D-1429-08	22081511	70756094	84514466	91	23179											
FLNA	2316	broad.mit.edu	37	X	153599613	153599613	+	Start_Codon_Del	DEL	T	T	-			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chrX:153599613delT	ENST00000369850.3	-	0	237				FLNA_ENST00000344736.4_Start_Codon_Del|FLNA_ENST00000360319.4_Start_Codon_Del|FLNA_ENST00000422373.1_Start_Codon_Del	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha						actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGCTACTCATTTTGAGGCGC	0.716											OREG0003594	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													5	7	6					X																	153599613		1749	3748	5497	SO:0001582	initiator_codon_variant	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712		X.37:g.153599613delT		1756	E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	ENST00000369850.3	37	CCDS48194.1																																																																																				0.716	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			-	153599613	T	-	153599613	7	5	423	1	0	1	0	1	0	0	0	0	5935	1493	52	0	8130	0	FLNA	23	153599613	Start_Codon_Del	DEL	T	TCGA-BP-5173-01A-01D-1429-08	82843519	153599613	1670947	92	23180											
F8	2157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	154157680	154157680	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5173-01A-01D-1429-08	TCGA-BP-5173-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ce0a5fc-09ae-412a-8a5b-56d9a44433aa	e8cec496-e3ba-4927-8c01-cb8ad45b56b6	g.chrX:154157680A>T	ENST00000360256.4	-	14	4585	c.4385T>A	c.(4384-4386)cTt>cAt	p.L1462H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1462	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.L1462H(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGCTAAAGAAAGGTTATTTTT	0.418																																																2	Substitution - Missense(2)	kidney(2)											85	82	83					X																	154157680		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4385T>A	X.37:g.154157680A>T	ENSP00000353393:p.Leu1462His		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	a	10.11	1.261110	0.23051	.	.	ENSG00000185010	ENST00000360256	D	0.99259	-5.64	5.03	-4.28	0.03732	.	1.107720	0.06756	N	0.780974	D	0.98419	0.9474	M	0.72118	2.19	0.09310	N	1	D	0.63880	0.993	P	0.53185	0.72	D	0.96969	0.9707	10	0.27785	T	0.31	-0.0219	5.6814	0.17778	0.3008:0.4283:0.2709:0.0	.	1462	P00451	FA8_HUMAN	H	1462	ENSP00000353393:L1462H	ENSP00000353393:L1462H	L	-	2	0	F8	153810874	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.081000	0.14823	-0.660000	0.05352	-0.318000	0.08688	CTT		0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			T	154157680	A	T	154157680	3	4	423	1	0	0	0	0	1	0	0	0	5352	72	3	5	2750	5	F8	23	154157680	Missense_Mutation	SNP	A	TCGA-BP-5173-01A-01D-1429-08	558067	154157680	1112880	93	23181											
MFAP2	4237	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17303611	17303611	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:17303611G>C	ENST00000375535.3	-	3	409	c.120C>G	c.(118-120)gaC>gaG	p.D40E	RP1-37C10.3_ENST00000446261.1_RNA|MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000375534.3_Missense_Mutation_p.D39E|MFAP2_ENST00000438542.1_Missense_Mutation_p.D39E			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	40					extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)		p.D40E(1)		kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TACCGATCTGGTCGCTATAGT	0.647																																																1	Substitution - Missense(1)	kidney(1)											48	39	42					1																	17303611		2203	4300	6503	SO:0001583	missense	4237			BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.120C>G	1.37:g.17303611G>C	ENSP00000364685:p.Asp40Glu		Q53X60|Q5JXY0	Missense_Mutation	SNP	ENST00000375535.3	37	CCDS174.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486532	0.44249	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	4.33	3.4	0.38934	.	0.167958	0.27223	N	0.020344	T	0.42314	0.1197	L	0.44542	1.39	0.32183	N	0.580072	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.47509	-0.9112	9	0.33940	T	0.23	-9.7942	10.4793	0.44684	0.0:0.1982:0.8018:0.0	.	39;40	Q5JXY0;P55001	.;MFAP2_HUMAN	E	40;39;39	.	ENSP00000364684:D39E	D	-	3	2	MFAP2	17176198	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	1.313000	0.33585	0.934000	0.37316	0.462000	0.41574	GAC		0.647	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1	NM_002403		C	17303611	G	C	17303611	3	2	424	1	0	0	0	0	1	0	0	0	9516	1252	44	4	459	4	MFAP2	1	17303611	Missense_Mutation	SNP	G	TCGA-BP-5174-01A-01D-1429-08		17303611	231947010	1	23182											
GRHL3	57822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24666207	24666207	+	Silent	SNP	C	C	G			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:24666207C>G	ENST00000350501.5	+	8	1129	c.1002C>G	c.(1000-1002)gcC>gcG	p.A334A	GRHL3_ENST00000356046.2_Silent_p.A288A|GRHL3_ENST00000361548.4_Silent_p.A334A|GRHL3_ENST00000236255.4_Silent_p.A339A|GRHL3_ENST00000342072.4_Silent_p.A241A	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	334					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A339A(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AGGAGGTGGCCTATAATGCAC	0.527																																																1	Substitution - coding silent(1)	kidney(1)											267	243	251					1																	24666207		2203	4300	6503	SO:0001819	synonymous_variant	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1002C>G	1.37:g.24666207C>G			A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	ENST00000350501.5	37	CCDS252.2																																																																																				0.527	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		G	24666207	C	G	24666207	2	3	424	1	0	0	0	0	0	0	0	1	6767	668	24	4		4	GRHL3	1	24666207	Silent	SNP	C	TCGA-BP-5174-01A-01D-1429-08	7362596	24666207	224584414	2	23183											
TMEM39B	55116	broad.mit.edu	37	1	32557586	32557586	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:32557586G>T	ENST00000336294.5	+	6	1047	c.901G>T	c.(901-903)Gcc>Tcc	p.A301S	TMEM39B_ENST00000427288.1_Missense_Mutation_p.A186S|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.A102S	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	301						integral component of membrane (GO:0016021)		p.A301S(1)|p.A174S(1)		endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTACTATGTGGCCTTTGTGCC	0.572																																																2	Substitution - Missense(2)	kidney(2)											82	73	76					1																	32557586		2203	4300	6503	SO:0001583	missense	55116			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.901G>T	1.37:g.32557586G>T	ENSP00000338165:p.Ala301Ser		B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	CCDS351.2	.	.	.	.	.	.	.	.	.	.	G	31	5.103836	0.94245	.	.	ENSG00000121775	ENST00000336294;ENST00000373634;ENST00000427288	.	.	.	4.95	4.95	0.65309	.	0.108232	0.64402	D	0.000006	T	0.79052	0.4381	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.979	P;D;P	0.87578	0.908;0.998;0.795	T	0.80600	-0.1310	9	0.56958	D	0.05	-16.4137	18.5641	0.91111	0.0:0.0:1.0:0.0	.	301;186;174	Q9GZU3;B4DTN8;Q9NW51	TM39B_HUMAN;.;.	S	301;102;186	.	ENSP00000338165:A301S	A	+	1	0	TMEM39B	32330173	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.329000	0.96413	2.462000	0.83206	0.462000	0.41574	GCC		0.572	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		T	32557586	G	T	32557586	3	4	424	1	0	0	0	0	1	0	0	0	16167	1203	42	4	923	4	TMEM39B	1	32557586	Missense_Mutation	SNP	G	TCGA-BP-5174-01A-01D-1429-08	7891379	32557586	216693035	3	23184											
PIGK	10026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	77627328	77627328	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:77627328G>T	ENST00000370812.3	-	7	676	c.653C>A	c.(652-654)cCt>cAt	p.P218H	PIGK_ENST00000359130.1_Missense_Mutation_p.P218H|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000445065.1_Missense_Mutation_p.P124H|PIGK_ENST00000370813.5_Missense_Mutation_p.P142H	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	218					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)	p.P218H(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						CATTATGTTAGGAGAATAAAA	0.378																																																1	Substitution - Missense(1)	kidney(1)											113	104	107					1																	77627328		2203	4300	6503	SO:0001583	missense	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"Phosphatidylinositol glycan anchor biosynthesis"	8965	protein-coding gene	gene with protein product	"GPI transamidase subunit"	605087	"phosphatidylinositol glycan, class K"			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.653C>A	1.37:g.77627328G>T	ENSP00000359848:p.Pro218His		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	CCDS674.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428330	0.83667	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.996;0.996	T	0.76953	-0.2768	10	0.87932	D	0	-19.2516	17.6359	0.88122	0.0:0.0:1.0:0.0	.	142;124;218;218	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	H	218;124;142;218	ENSP00000359848:P218H;ENSP00000388854:P124H;ENSP00000359849:P142H;ENSP00000352041:P218H	ENSP00000352041:P218H	P	-	2	0	PIGK	77399916	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.396000	0.79891	2.454000	0.82982	0.650000	0.86243	CCT		0.378	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		T	77627328	G	T	77627328	3	4	424	1	0	0	0	0	1	0	0	0	11892	1000	35	4	554	4	PIGK	1	77627328	Missense_Mutation	SNP	G	TCGA-BP-5174-01A-01D-1429-08	45069742	77627328	171623293	4	23185											
SASS6	163786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100571393	100571393	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:100571393G>T	ENST00000287482.5	-	13	1615	c.1475C>A	c.(1474-1476)cCt>cAt	p.P492H	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.P325H	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	492					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.P492H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		AGTAGTAGAAGGTCCCAATAC	0.363																																																1	Substitution - Missense(1)	kidney(1)											175	153	161					1																	100571393		2203	4300	6503	SO:0001583	missense	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1475C>A	1.37:g.100571393G>T	ENSP00000287482:p.Pro492His		D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	G	7.525	0.657525	0.14645	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.50813	2.31;0.73	5.05	2.1	0.27182	.	0.530450	0.18574	N	0.137227	T	0.16471	0.0396	L	0.42245	1.32	0.22552	N	0.998999	B	0.33512	0.415	B	0.33392	0.163	T	0.09443	-1.0674	10	0.35671	T	0.21	-0.0472	5.1637	0.15075	0.1775:0.0:0.6566:0.1659	.	492	Q6UVJ0	SAS6_HUMAN	H	492;465;325	ENSP00000287482:P492H;ENSP00000440169:P325H	ENSP00000287482:P492H	P	-	2	0	SASS6	100343981	0.012000	0.17670	0.441000	0.26858	0.005000	0.04900	1.419000	0.34793	0.496000	0.27904	-0.444000	0.05651	CCT		0.363	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		T	100571393	G	T	100571393	3	4	424	1	0	0	0	0	1	0	0	0	13856	1000	35	4	518	4	SASS6	1	100571393	Missense_Mutation	SNP	G	TCGA-BP-5174-01A-01D-1429-08	22944065	100571393	148679228	5	23186											
ZNF687	5298	broad.mit.edu	37	1	151262327	151262328	+	IGR	INS	-	-	C			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:151262327_151262328insC	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Frame_Shift_Ins_p.P937fs			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCCCCTGAGCCCCCCCGTCC	0.649																																					Colon(154;765 1838 9854 28443 37492)											0																																										SO:0001628	intergenic_variant	57592			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262334_151262334dupC			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Frame_Shift_Ins	INS	ENST00000368873.1	37																																																																																					0.649	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		C	151262328	-	C	151262327	6	5	424	0	1	1	1	0	0	0	0	0	18097	962	34	0		0	ZNF687	1	151262327	IGR	INS	-	TCGA-BP-5174-01A-01D-1429-08	50690934	151262327	97988294	6	23187											
DISC1	27185	broad.mit.edu;hgsc.bcm.edu	37	1	231829671	231829671	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr1:231829671T>A	ENST00000602281.1	+	2	220	c.167T>A	c.(166-168)tTc>tAc	p.F56Y	DISC1_ENST00000366633.3_Missense_Mutation_p.F56Y|DISC1_ENST00000539444.1_Missense_Mutation_p.F56Y|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.F56Y|DISC1_ENST00000537876.1_Missense_Mutation_p.F56Y|DISC1_ENST00000317586.4_Missense_Mutation_p.F56Y|DISC1_ENST00000366636.4_Missense_Mutation_p.F56Y|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Missense_Mutation_p.F56Y	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	56	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.F56Y(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGGATCGGGTTCCTTTCCCCA	0.662																																																4	Substitution - Missense(4)	kidney(4)											44	41	42					1																	231829671		2203	4300	6503	SO:0001583	missense	27185			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.167T>A	1.37:g.231829671T>A	ENSP00000473425:p.Phe56Tyr		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357397	0.41801	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	4.88	2.52	0.30459	.	0.505078	0.19298	N	0.117706	T	0.39279	0.1072	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.998;0.998;0.999;0.998;0.999;0.999;0.999;0.999;0.997;0.998;0.998;0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.997	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.81914	0.918;0.96;0.937;0.995;0.96;0.937;0.96;0.96;0.96;0.96;0.918;0.995;0.995;0.96;0.96;0.96;0.995;0.96;0.96;0.96;0.918	T	0.06716	-1.0811	10	0.87932	D	0	-10.2503	6.208	0.20613	0.0:0.0937:0.1738:0.7325	.	56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56;56	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	Y	56	ENSP00000403888:F56Y;ENSP00000320784:F56Y;ENSP00000355596:F56Y;ENSP00000443996:F56Y;ENSP00000440909:F56Y;ENSP00000355593:F56Y;ENSP00000440953:F56Y;ENSP00000295051:F56Y;ENSP00000441193:F56Y	ENSP00000295051:F56Y	F	+	2	0	DISC1	229896294	0.943000	0.32029	0.113000	0.21522	0.229000	0.25112	1.681000	0.37618	0.901000	0.36495	0.533000	0.62120	TTC		0.662	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		A	231829671	T	A	231829671	3	1	424	1	0	0	0	0	1	0	0	0	4540	1783	62	5	173	5	DISC1	1	231829671	Missense_Mutation	SNP	T	TCGA-BP-5174-01A-01D-1429-08	80567344	231829671	17420950	7	23188											
TEKT4	150483	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	95537442	95537442	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr2:95537442C>A	ENST00000295201.4	+	1	255	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	TEKT4_ENST00000427593.2_Missense_Mutation_p.L40M|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	40					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.L40M(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTCCAAGTACCTGCTGGAGGA	0.677																																																1	Substitution - Missense(1)	kidney(1)											33	38	36					2																	95537442		2154	4201	6355	SO:0001583	missense	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.118C>A	2.37:g.95537442C>A	ENSP00000295201:p.Leu40Met			Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.582041	0.28180	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.10960	3.9;2.82	1.97	1.97	0.26223	.	0.451628	0.21397	N	0.075214	T	0.09774	0.0240	N	0.08118	0	0.35738	D	0.818444	D	0.63880	0.993	P	0.55161	0.77	T	0.33650	-0.9860	10	0.59425	D	0.04	-2.9295	9.5816	0.39490	0.0:1.0:0.0:0.0	.	40	Q8WW24	TEKT4_HUMAN	M	40	ENSP00000295201:L40M;ENSP00000407596:L40M	ENSP00000295201:L40M	L	+	1	2	TEKT4	94901169	0.889000	0.30405	0.998000	0.56505	0.088000	0.18126	1.466000	0.35310	1.094000	0.41399	0.558000	0.71614	CTG		0.677	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		A	95537442	C	A	95537442	3	1	424	1	0	0	0	0	1	0	0	0	15760	680	24	4	120	4	TEKT4	2	95537442	Missense_Mutation	SNP	C	TCGA-BP-5174-01A-01D-1429-08		95537442	147661931	8	23189											
ORC4L	5000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	148693265	148693265	+	Silent	SNP	A	A	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr2:148693265A>T	ENST00000392857.5	-	14	1232	c.1125T>A	c.(1123-1125)gcT>gcA	p.A375A	ORC4_ENST00000536575.1_Silent_p.A291A|ORC4_ENST00000488761.1_5'Flank|ORC4_ENST00000392858.1_Silent_p.A375A|ORC4_ENST00000540442.1_Silent_p.A301A|ORC4_ENST00000542387.1_Silent_p.A158A|ORC4_ENST00000535373.1_Silent_p.A375A|ORC4_ENST00000264169.2_Silent_p.A375A	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	375					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.A375A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						AGTGTTCAAAAGCCTGAAAGA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											76	79	78					2																	148693265		2202	4300	6502	SO:0001819	synonymous_variant	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"ATPases / AAA-type"	8490	protein-coding gene	gene with protein product		603056	"origin recognition complex, subunit 4 (yeast homolog)-like", "origin recognition complex, subunit 4-like (yeast)", "origin recognition complex, subunit 4-like (S. cerevisiae)", "origin recognition complex, subunit 4 homolog (S. cerevisiae)"	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.1125T>A	2.37:g.148693265A>T			B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Silent	SNP	ENST00000392857.5	37	CCDS2187.1																																																																																				0.398	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		T	148693265	A	T	148693265	2	4	424	1	0	0	0	0	0	0	0	1	11266	59	3	5		5	ORC4L	2	148693265	Silent	SNP	A	TCGA-BP-5174-01A-01D-1429-08	53155823	148693265	94506108	9	23190											
DNAJC10	54431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	183601013	183601013	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr2:183601013C>T	ENST00000264065.7	+	11	1302	c.887C>T	c.(886-888)aCc>aTc	p.T296I	DNAJC10_ENST00000537515.1_Missense_Mutation_p.T296I	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	296	Trxb 1.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.T296I(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GACTGTGCCACCCAGGATAAC	0.358																																					Pancreas(56;860 1183 25669 35822 48585)											1	Substitution - Missense(1)	kidney(1)											122	118	120					2																	183601013		2203	4300	6503	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.887C>T	2.37:g.183601013C>T	ENSP00000264065:p.Thr296Ile		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409103	0.25378	.	.	ENSG00000077232	ENST00000264065;ENST00000537515	T;T	0.39406	1.08;1.08	5.44	0.532	0.17114	Thioredoxin-like fold (1);	0.747715	0.13487	N	0.384247	T	0.27933	0.0688	L	0.33485	1.01	0.19775	N	0.999952	B	0.06786	0.001	B	0.06405	0.002	T	0.18085	-1.0348	10	0.48119	T	0.1	.	5.8991	0.18955	0.0:0.5925:0.1263:0.2813	.	296	Q8IXB1	DJC10_HUMAN	I	296	ENSP00000264065:T296I;ENSP00000441560:T296I	ENSP00000264065:T296I	T	+	2	0	DNAJC10	183309258	0.098000	0.21812	0.302000	0.25058	0.670000	0.39368	0.589000	0.23939	-0.110000	0.12022	-0.834000	0.03071	ACC		0.358	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		T	183601013	C	T	183601013	3	4	424	1	0	0	0	0	1	0	0	0	4631	507	18	2	921	2	DNAJC10	2	183601013	Missense_Mutation	SNP	C	TCGA-BP-5174-01A-01D-1429-08	34907748	183601013	59598360	10	23191											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188204	10188219	+	Frame_Shift_Del	DEL	TTTGGCTCTTCAGAGA	TTTGGCTCTTCAGAGA	-	rs5030830|rs5030832		TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	TTTGGCTCTTCAGAGA	TTTGGCTCTTCAGAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr3:10188204_10188219delTTTGGCTCTTCAGAGA	ENST00000256474.2	+	2	1187_1202	c.347_362delTTTGGCTCTTCAGAGA	c.(346-363)ctttggctcttcagagatfs	p.LWLFRD116fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W117*(7)|p.D121Y(6)|p.W117R(5)|p.L118P(5)|p.W117C(4)|p.D121G(3)|p.W117fs*42(3)|p.F119L(3)|p.?(2)|p.W117fs*14(2)|p.D121fs*38(2)|p.W117L(2)|p.W117G(2)|p.L116L(1)|p.L118fs*14(1)|p.R120fs*38(1)|p.W117fs*40(1)|p.R120G(1)|p.D121_A122del(1)|p.H115fs*15(1)|p.R120S(1)|p.F119fs*11(1)|p.A122fs*7(1)|p.D121*(1)|p.R120fs*39(1)|p.R120*(1)|p.R120fs*34(1)|p.R120fs*10(1)|p.L118_G123>P(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.D121fs*11(1)|p.D121fs*10(1)|p.D121fs*35(1)|p.D121fs*12(1)|p.L118H(1)|p.W117fs*1(1)|p.F119fs*40(1)|p.W117S(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACA	0.519		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	72	Substitution - Missense(34)|Deletion - Frameshift(21)|Substitution - Nonsense(9)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Substitution - coding silent(1)	kidney(66)|large_intestine(3)|upper_aerodigestive_tract(1)|adrenal_gland(1)|pancreas(1)	GRCh37	CD962176|CI951985|CI983254|CM014753|CM056724|CM056725|CM941373|CM941374|CM951286|CM951287|CM952202|CM961425|CM961426|HM971481	VHL	D|I|M	rs5030830|rs5030832																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.347_362delTTTGGCTCTTCAGAGA	3.37:g.10188204_10188219delTTTGGCTCTTCAGAGA	ENSP00000256474:p.Leu116fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.519	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188219	TTTGGCTCTTCAGAGA	-	10188204	7	5	424	1	0	1	0	1	0	0	0	0	17167	1609	56	0	353	0	VHL	3	10188204	Frame_Shift_Del	DEL	TTTGGCTCTTCAGAGA	TCGA-BP-5174-01A-01D-1429-08		10188204	187834226	11	23192											
BAP1	8314	broad.mit.edu	37	3	52436397	52436397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr3:52436397delC	ENST00000460680.1	-	17	2568	c.2097delG	c.(2095-2097)cggfs	p.R701fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.R683fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q694fs*14(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTTGGCGCCGCCGCACGGAGA	0.657			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	eye(1)											19	20	20					3																	52436397		2189	4287	6476	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2097delG	3.37:g.52436397delC	ENSP00000417132:p.Arg701fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																				0.657	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52436397	C	-	52436397	7	5	424	1	0	1	0	1	0	0	0	0	1311	726	26	0	96	0	BAP1	3	52436397	Frame_Shift_Del	DEL	C	TCGA-BP-5174-01A-01D-1429-08	42248193	52436397	145586033	12	23193											
TRAT1	50852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	108572551	108572551	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr3:108572551C>A	ENST00000295756.6	+	6	618	c.388C>A	c.(388-390)Cat>Aat	p.H130N	TRAT1_ENST00000426646.1_Missense_Mutation_p.H93N	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	130					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H130N(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACAGAATACTCATTTCTCAGA	0.463																																																1	Substitution - Missense(1)	kidney(1)											114	100	105					3																	108572551		2203	4300	6503	SO:0001583	missense	50852			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.388C>A	3.37:g.108572551C>A	ENSP00000295756:p.His130Asn		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	4.701	0.130365	0.08981	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.34472	1.36;1.63	5.41	-2.88	0.05682	.	1.620550	0.03290	N	0.187400	T	0.13670	0.0331	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.15464	-1.0436	10	0.02654	T	1	-8.1012	1.8172	0.03102	0.1226:0.3839:0.2302:0.2632	.	93;130	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	N	130;93	ENSP00000295756:H130N;ENSP00000410097:H93N	ENSP00000295756:H130N	H	+	1	0	TRAT1	110055241	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.573000	0.05874	-0.640000	0.05495	0.655000	0.94253	CAT		0.463	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		A	108572551	C	A	108572551	3	1	424	1	0	0	0	0	1	0	0	0	16471	826	29	4	410	4	TRAT1	3	108572551	Missense_Mutation	SNP	C	TCGA-BP-5174-01A-01D-1429-08	56136154	108572551	89449879	13	23194											
DHX36	170506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	154022915	154022915	+	Silent	SNP	T	T	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr3:154022915T>A	ENST00000496811.1	-	7	1016	c.936A>T	c.(934-936)acA>acT	p.T312T	DHX36_ENST00000329463.5_Silent_p.T312T|DHX36_ENST00000308361.6_Silent_p.T312T|DHX36_ENST00000544526.1_Silent_p.T312T	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	312	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.T312T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGATGATTCCTGTTGTACAGT	0.338																																																1	Substitution - coding silent(1)	kidney(1)											78	73	75					3																	154022915		2203	4300	6503	SO:0001819	synonymous_variant	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.936A>T	3.37:g.154022915T>A			B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	ENST00000496811.1	37	CCDS3171.1																																																																																				0.338	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		A	154022915	T	A	154022915	2	1	424	1	0	0	0	0	0	0	0	1	4511	1567	55	5		5	DHX36	3	154022915	Silent	SNP	T	TCGA-BP-5174-01A-01D-1429-08	45450364	154022915	43999515	14	23195											
SH3TC1	54436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8217896	8217896	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr4:8217896G>T	ENST00000245105.3	+	6	607	c.540G>T	c.(538-540)ttG>ttT	p.L180F	SH3TC1_ENST00000539824.1_Missense_Mutation_p.L104F	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	180								p.L180F(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCTGCTCTTGCCCAGTGAGG	0.602																																					NSCLC(145;2298 2623 35616 37297)											1	Substitution - Missense(1)	kidney(1)											87	70	76					4																	8217896		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.540G>T	4.37:g.8217896G>T	ENSP00000245105:p.Leu180Phe		Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	8.669	0.902382	0.17760	.	.	ENSG00000125089	ENST00000509119;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.76186	-1.0;-0.99	4.19	-4.87	0.03123	.	0.263305	0.31772	N	0.007086	T	0.51398	0.1672	N	0.22421	0.69	0.09310	N	1	B	0.22146	0.065	B	0.14578	0.011	T	0.36648	-0.9739	10	0.54805	T	0.06	9.0E-4	7.7628	0.28961	0.2923:0.5239:0.1838:0.0	.	180	Q8TE82	S3TC1_HUMAN	F	104;180;104;9	ENSP00000245105:L180F;ENSP00000441045:L104F	ENSP00000245105:L180F	L	+	3	2	SH3TC1	8268796	0.000000	0.05858	0.001000	0.08648	0.711000	0.40976	-2.368000	0.01077	-0.667000	0.05303	-0.300000	0.09419	TTG		0.602	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		T	8217896	G	T	8217896	3	4	424	1	0	0	0	0	1	0	0	0	14267	1310	46	4	558	4	SH3TC1	4	8217896	Missense_Mutation	SNP	G	TCGA-BP-5174-01A-01D-1429-08		8217896	182936380	15	23196											
C4orf37	285555	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	98902354	98902354	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr4:98902354C>T	ENST00000295268.3	-	6	817	c.728G>A	c.(727-729)aGt>aAt	p.S243N		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	243								p.S243N(1)									TCGAACAGCACTTTGACCAAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											192	190	191					4																	98902354		2203	4300	6503	SO:0001583	missense	0			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.728G>A	4.37:g.98902354C>T	ENSP00000295268:p.Ser243Asn			Missense_Mutation	SNP	ENST00000295268.3	37	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696334	0.30052	.	.	ENSG00000163116	ENST00000295268	T	0.12361	2.69	5.58	-0.988	0.10245	.	0.722269	0.13259	N	0.401429	T	0.12902	0.0313	L	0.51422	1.61	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.27606	-1.0069	10	0.56958	D	0.05	-33.5351	10.3051	0.43676	0.0:0.3062:0.5456:0.1482	.	243	Q8N412	CD037_HUMAN	N	243	ENSP00000295268:S243N	ENSP00000295268:S243N	S	-	2	0	C4orf37	99121377	0.169000	0.23002	0.264000	0.24511	0.723000	0.41478	0.188000	0.17018	0.039000	0.15632	-0.217000	0.12591	AGT		0.383	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		T	98902354	C	T	98902354	3	4	424	1	0	0	0	0	1	0	0	0	2269	565	20	2	675	2	C4orf37	4	98902354	Missense_Mutation	SNP	C	TCGA-BP-5174-01A-01D-1429-08	90684458	98902354	92251922	16	23197											
TACR3	6870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	104512654	104512654	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr4:104512654G>T	ENST00000304883.2	-	4	1215	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	359					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.L359M(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTTTTATTCAGACAGCAGTAG	0.398																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											159	165	163					4																	104512654		2203	4300	6503	SO:0001583	missense	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1075C>A	4.37:g.104512654G>T	ENSP00000303325:p.Leu359Met		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311583	0.40895	.	.	ENSG00000169836	ENST00000304883	T	0.38401	1.14	5.21	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.65320	2	0.46061	D	0.998844	D	0.89917	1.0	D	0.79108	0.992	T	0.37454	-0.9705	10	0.22706	T	0.39	.	9.4264	0.38583	0.2345:0.0:0.7655:0.0	.	359	P29371	NK3R_HUMAN	M	359	ENSP00000303325:L359M	ENSP00000303325:L359M	L	-	1	2	TACR3	104732103	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.191000	0.65110	0.287000	0.22375	-0.140000	0.14226	CTG		0.398	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		T	104512654	G	T	104512654	3	4	424	1	0	0	0	0	1	0	0	0	15512	933	33	4	330	4	TACR3	4	104512654	Missense_Mutation	SNP	G	TCGA-BP-5174-01A-01D-1429-08	5610300	104512654	86641622	17	23198											
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	126328192	126328192	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr4:126328192C>T	ENST00000394329.3	+	3	5478	c.5465C>T	c.(5464-5466)tCc>tTc	p.S1822F	FAT4_ENST00000335110.5_Missense_Mutation_p.S120F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1822	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1822F(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTCTTCAGTCCTCGGATATG	0.468																																																2	Substitution - Missense(2)	kidney(2)											158	147	150					4																	126328192		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5465C>T	4.37:g.126328192C>T	ENSP00000377862:p.Ser1822Phe		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901468	0.52227	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01871	4.59;4.59	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.000000	0.34386	U	0.004017	T	0.08935	0.0221	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.29119	-1.0022	10	0.41790	T	0.15	.	19.1712	0.93578	0.0:1.0:0.0:0.0	.	120;1822	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	F	1822;120	ENSP00000377862:S1822F;ENSP00000335169:S120F	ENSP00000335169:S120F	S	+	2	0	FAT4	126547642	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.428000	0.80296	2.582000	0.87167	0.650000	0.86243	TCC		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126328192	C	T	126328192	3	4	424	1	0	0	0	0	1	0	0	0	5694	855	30	2	5475	2	FAT4	4	126328192	Missense_Mutation	SNP	C	TCGA-BP-5174-01A-01D-1429-08	21815538	126328192	64826084	18	23199											
SLC35A4	113829	broad.mit.edu;ucsc.edu	37	5	139947164	139947164	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr5:139947164G>T	ENST00000514199.1	+	2	2096	c.410G>T	c.(409-411)cGc>cTc	p.R137L	APBB3_ENST00000357560.4_5'Flank|SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137L|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	137	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)	p.R137L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCACCGCCTCTCTGTG	0.592																																																1	Substitution - Missense(1)	kidney(1)											41	42	42					5																	139947164		2203	4300	6503	SO:0001583	missense	113829			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"Solute carriers"	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.410G>T	5.37:g.139947164G>T	ENSP00000424566:p.Arg137Leu		A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077120	0.76415	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.49432	0.78;0.78	5.11	4.23	0.50019	.	0.062145	0.64402	D	0.000009	T	0.61949	0.2388	M	0.72894	2.215	0.54753	D	0.999985	D	0.56968	0.978	P	0.59115	0.852	T	0.64097	-0.6487	9	.	.	.	.	13.2176	0.59869	0.0774:0.0:0.9226:0.0	.	137	Q96G79	S35A4_HUMAN	L	137	ENSP00000327133:R137L;ENSP00000424566:R137L	.	R	+	2	0	SLC35A4	139927348	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.395000	0.79876	1.381000	0.46364	0.514000	0.50259	CGC		0.592	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		T	139947164	G	T	139947164	3	4	424	1	0	0	0	0	1	0	0	0	14579	1087	38	4	412	4	SLC35A4	5	139947164	Missense_Mutation	SNP	G	TCGA-BP-5174-01A-01D-1429-08		139947164	40968096	19	23200											
RSPH9	221421	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43613007	43613007	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr6:43613007T>C	ENST00000372163.4	+	1	225	c.172T>C	c.(172-174)Tac>Cac	p.Y58H	RSPH9_ENST00000372165.4_Missense_Mutation_p.Y58H	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	58					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.Y58H(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CGCCGATTACTACATCGCGCA	0.642									Kartagener syndrome																																							2	Substitution - Missense(2)	kidney(2)											44	44	44					6																	43613007		2197	4291	6488	SO:0001583	missense	221421	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"mitochondrial ribosomal protein S18A-like 1", "chromosome 6 open reading frame 206"	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.172T>C	6.37:g.43613007T>C	ENSP00000361236:p.Tyr58His		A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	CCDS4905.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.487070	0.26686	.	.	ENSG00000172426	ENST00000372165;ENST00000372163;ENST00000372154	T	0.49139	0.79	4.85	4.85	0.62838	.	0.068264	0.64402	D	0.000011	T	0.22627	0.0546	L	0.45352	1.415	0.39781	D	0.972302	B;B	0.22003	0.063;0.004	B;B	0.17433	0.018;0.004	T	0.08269	-1.0730	10	0.30854	T	0.27	.	10.8172	0.46583	0.0:0.0:0.0:1.0	.	58;58	Q96NH9;Q9H1X1	.;RSPH9_HUMAN	H	58;58;26	ENSP00000361236:Y58H	ENSP00000361227:Y26H	Y	+	1	0	RSPH9	43720985	1.000000	0.71417	0.991000	0.47740	0.056000	0.15407	5.202000	0.65169	1.795000	0.52594	0.460000	0.39030	TAC		0.642	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		C	43613007	T	C	43613007	3	2	424	1	0	0	0	0	1	0	0	0	13714	1522	53	3	174	3	RSPH9	6	43613007	Missense_Mutation	SNP	T	TCGA-BP-5174-01A-01D-1429-08		43613007	127502060	20	23201											
SNX14	57231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	86258029	86258029	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr6:86258029A>G	ENST00000314673.3	-	9	1033	c.857T>C	c.(856-858)cTa>cCa	p.L286P	SNX14_ENST00000346348.3_Missense_Mutation_p.L242P|SNX14_ENST00000505648.1_Missense_Mutation_p.L234P|SNX14_ENST00000369627.2_Missense_Mutation_p.L286P|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.L286P	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	286	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.L286P(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TGGATCAGCTAGGAAATCCAA	0.269																																																1	Substitution - Missense(1)	kidney(1)											46	52	50					6																	86258029		2203	4296	6499	SO:0001583	missense	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.857T>C	6.37:g.86258029A>G	ENSP00000313121:p.Leu286Pro		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308694	0.60305	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.54479	0.84;0.91;0.57;0.95;0.94;1.02	4.51	4.51	0.55191	Phox-associated domain (2);	0.074629	0.53938	D	0.000047	T	0.65322	0.2680	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.997;0.998	D;D;D;D	0.70935	0.929;0.929;0.958;0.971	T	0.72178	-0.4369	10	0.87932	D	0	-8.8694	14.1438	0.65336	1.0:0.0:0.0:0.0	.	286;242;286;234	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	P	242;286;286;234;286;213	ENSP00000257769:L242P;ENSP00000313121:L286P;ENSP00000420938:L286P;ENSP00000427380:L234P;ENSP00000358641:L286P;ENSP00000425630:L213P	ENSP00000313121:L286P	L	-	2	0	SNX14	86314748	1.000000	0.71417	0.997000	0.53966	0.583000	0.36354	8.901000	0.92560	1.801000	0.52704	0.260000	0.18958	CTA		0.269	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		G	86258029	A	G	86258029	3	3	424	1	0	0	0	0	1	0	0	0	14891	420	15	3	2067	3	SNX14	6	86258029	Missense_Mutation	SNP	A	TCGA-BP-5174-01A-01D-1429-08	42645022	86258029	84857038	21	23202											
SLC22A16	85413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	110763477	110763477	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr6:110763477C>T	ENST00000368919.3	-	4	1219	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000439654.1_Missense_Mutation_p.G385S|SLC22A16_ENST00000330550.4_Missense_Mutation_p.G351S	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	385					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.G385S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TATTCATTGCCTCCTAAGTTA	0.388																																																1	Substitution - Missense(1)	kidney(1)											71	69	69					6																	110763477		2203	4300	6503	SO:0001583	missense	85413				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1153G>A	6.37:g.110763477C>T	ENSP00000357915:p.Gly385Ser		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602488	0.87157	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.72394	-0.63;-0.63;-0.63;-0.63;-0.63;-0.65	4.89	4.01	0.46588	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.240344	0.43747	D	0.000539	T	0.77772	0.4180	M	0.79011	2.435	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.66847	0.947;0.913	T	0.80979	-0.1140	10	0.59425	D	0.04	.	13.182	0.59660	0.0:0.9218:0.0:0.0782	.	385;351	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	S	385;302;351;385;215;342	ENSP00000357915:G385S;ENSP00000395642:G302S;ENSP00000328583:G351S;ENSP00000408799:G385S;ENSP00000409306:G215S;ENSP00000416310:G342S	ENSP00000328583:G351S	G	-	1	0	SLC22A16	110870170	1.000000	0.71417	0.543000	0.28128	0.951000	0.60555	4.285000	0.58989	1.175000	0.42826	0.655000	0.94253	GGC		0.388	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		T	110763477	C	T	110763477	3	4	424	1	0	0	0	0	1	0	0	0	14453	681	24	2	600	2	SLC22A16	6	110763477	Missense_Mutation	SNP	C	TCGA-BP-5174-01A-01D-1429-08	24505448	110763477	60351590	22	23203											
PKD1L1	168507	broad.mit.edu;hgsc.bcm.edu	37	7	47869026	47869026	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr7:47869026T>G	ENST00000289672.2	-	44	6782	c.6732A>C	c.(6730-6732)gaA>gaC	p.E2244D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2244					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.E2244D(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTTTTACTTTTTCAACCTCGC	0.413																																																1	Substitution - Missense(1)	kidney(1)											65	71	69					7																	47869026		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6732A>C	7.37:g.47869026T>G	ENSP00000289672:p.Glu2244Asp		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.892223	0.33442	.	.	ENSG00000158683	ENST00000289672	T	0.19669	2.13	4.11	1.73	0.24493	.	1.614660	0.03691	N	0.247120	T	0.20333	0.0489	L	0.59436	1.845	0.09310	N	1	P	0.48764	0.915	B	0.36922	0.236	T	0.25882	-1.0119	10	0.44086	T	0.13	-3.216	5.2395	0.15464	0.0:0.2441:0.0:0.7559	.	2244	Q8TDX9	PK1L1_HUMAN	D	2244	ENSP00000289672:E2244D	ENSP00000289672:E2244D	E	-	3	2	PKD1L1	47835551	0.001000	0.12720	0.003000	0.11579	0.168000	0.22595	-0.018000	0.12568	0.186000	0.20125	0.460000	0.39030	GAA		0.413	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		G	47869026	T	G	47869026	3	3	424	1	0	0	0	0	1	0	0	0	11966	1838	64	5	1873	5	PKD1L1	7	47869026	Missense_Mutation	SNP	T	TCGA-BP-5174-01A-01D-1429-08		47869026	111269637	23	23204											
TMEM168	64418	hgsc.bcm.edu;ucsc.edu	37	7	112412960	112412960	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr7:112412960delA	ENST00000312814.6	-	4	1982	c.1422delT	c.(1420-1422)tttfs	p.F474fs	TMEM168_ENST00000454074.1_Frame_Shift_Del_p.F474fs|TMEM168_ENST00000480969.1_5'Flank	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	474						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCAGAGTATCAAATGACAGTC	0.408																																																0													120	110	113					7																	112412960		2203	4300	6503	SO:0001589	frameshift_variant	64418				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1422delT	7.37:g.112412960delA	ENSP00000323068:p.Phe474fs		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Frame_Shift_Del	DEL	ENST00000312814.6	37	CCDS5757.1																																																																																				0.408	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		-	112412960	A	-	112412960	7	5	424	1	0	1	0	1	0	0	0	0	16088	127	5	0	679	0	TMEM168	7	112412960	Frame_Shift_Del	DEL	A	TCGA-BP-5174-01A-01D-1429-08	64543934	112412960	46725703	24	23205											
RBM28	55131	broad.mit.edu;hgsc.bcm.edu	37	7	127979814	127979814	+	Silent	SNP	G	G	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr7:127979814G>A	ENST00000223073.2	-	2	264	c.150C>T	c.(148-150)gtC>gtT	p.V50V	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	50	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V50V(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGAAAAAGTGACATAGCCAA	0.483																																																1	Substitution - coding silent(1)	kidney(1)											92	85	88					7																	127979814		2203	4300	6503	SO:0001819	synonymous_variant	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.150C>T	7.37:g.127979814G>A			A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP	ENST00000223073.2	37	CCDS5801.1																																																																																				0.483	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		A	127979814	G	A	127979814	2	1	424	1	0	0	0	0	0	0	0	1	13134	1277	45	2		2	RBM28	7	127979814	Silent	SNP	G	TCGA-BP-5174-01A-01D-1429-08	15566854	127979814	31158849	25	23206											
AKR1B15	441282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134261744	134261744	+	Missense_Mutation	SNP	T	T	G	rs375543873		TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr7:134261744T>G	ENST00000457545.2	+	10	1115	c.855T>G	c.(853-855)aaT>aaG	p.N285K	AKR1B15_ENST00000423958.1_Missense_Mutation_p.N257K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	285							oxidoreductase activity (GO:0016491)	p.N303K(1)|p.N257K(1)|p.N285K(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TCCAGAGGAATGTGACAGTGA	0.488																																																3	Substitution - Missense(3)	kidney(3)											192	187	189					7																	134261744		2203	4300	6503	SO:0001583	missense	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.855T>G	7.37:g.134261744T>G	ENSP00000389289:p.Asn285Lys		C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	T	9.214	1.031567	0.19590	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.16897	2.31;2.31	3.51	-5.4	0.02656	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.11153	0.0272	L	0.38953	1.18	0.41436	D	0.987891	B;P	0.42941	0.055;0.794	B;B	0.41374	0.126;0.355	T	0.33343	-0.9872	9	0.46703	T	0.11	.	6.719	0.23321	0.2231:0.5377:0.0:0.2391	.	257;285	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	K	285;257	ENSP00000389289:N285K;ENSP00000397009:N257K	ENSP00000397009:N257K	N	+	3	2	AKR1B15	133912284	0.790000	0.28787	0.656000	0.29637	0.177000	0.22998	-0.157000	0.10085	-0.702000	0.05056	0.333000	0.21579	AAT		0.488	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			G	134261744	T	G	134261744	3	3	424	1	0	0	0	0	1	0	0	0	468	1461	51	5	885	5	AKR1B15	7	134261744	Missense_Mutation	SNP	T	TCGA-BP-5174-01A-01D-1429-08	6281930	134261744	24876919	26	23207											
PTPRN2	5799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	157475557	157475557	+	Missense_Mutation	SNP	C	C	G	rs144004975		TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr7:157475557C>G	ENST00000389418.4	-	13	1870	c.1861G>C	c.(1861-1863)Gtc>Ctc	p.V621L	PTPRN2_ENST00000409483.1_Missense_Mutation_p.V583L|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V604L|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V644L|PTPRN2_ENST00000389413.3_Missense_Mutation_p.V592L	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	621					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V621L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCGAGGGAGACCAGGGTGAGC	0.587																																																1	Substitution - Missense(1)	kidney(1)											112	115	114					7																	157475557		2203	4300	6503	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1861G>C	7.37:g.157475557C>G	ENSP00000374069:p.Val621Leu		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	6.312	0.425640	0.11987	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03358	3.97;3.97;3.97;3.97;3.96	4.73	1.46	0.22682	.	0.516966	0.14107	N	0.340972	T	0.03095	0.0091	L	0.37561	1.115	0.27760	N	0.943868	B;B;B;B;B	0.16802	0.019;0.004;0.007;0.001;0.004	B;B;B;B;B	0.17098	0.017;0.008;0.017;0.001;0.008	T	0.40997	-0.9533	10	0.37606	T	0.19	.	3.2471	0.06801	0.1028:0.1124:0.4045:0.3803	.	644;583;592;604;621	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	L	583;592;604;621;644	ENSP00000387114:V583L;ENSP00000374064:V592L;ENSP00000374067:V604L;ENSP00000374069:V621L;ENSP00000385464:V644L	ENSP00000374064:V592L	V	-	1	0	PTPRN2	157168318	0.141000	0.22595	0.165000	0.22776	0.623000	0.37688	0.047000	0.14056	0.005000	0.14708	0.655000	0.94253	GTC		0.587	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			G	157475557	C	G	157475557	3	3	424	1	0	0	0	0	1	0	0	0	12814	507	18	4	1230	4	PTPRN2	7	157475557	Missense_Mutation	SNP	C	TCGA-BP-5174-01A-01D-1429-08	23213813	157475557	1663106	27	23208											
DPYS	1807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	105456595	105456595	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr8:105456595A>G	ENST00000351513.2	-	4	806	c.674T>C	c.(673-675)gTg>gCg	p.V225A		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	225					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.V225A(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCTGCCTCCACTGCCTCTGG	0.542																																																1	Substitution - Missense(1)	kidney(1)											76	69	71					8																	105456595		2203	4300	6503	SO:0001583	missense	1807			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.674T>C	8.37:g.105456595A>G	ENSP00000276651:p.Val225Ala			Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	A	32	5.169308	0.94768	.	.	ENSG00000147647	ENST00000351513	D	0.88975	-2.45	5.89	5.89	0.94794	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.90696	0.7081	N	0.20766	0.605	0.80722	D	1	P	0.37731	0.607	P	0.61800	0.894	D	0.91689	0.5364	10	0.66056	D	0.02	-27.2405	16.3127	0.82898	1.0:0.0:0.0:0.0	.	225	Q14117	DPYS_HUMAN	A	225	ENSP00000276651:V225A	ENSP00000276651:V225A	V	-	2	0	DPYS	105525771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.991000	0.76232	2.246000	0.74042	0.533000	0.62120	GTG		0.542	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		G	105456595	A	G	105456595	3	3	424	1	0	0	0	0	1	0	0	0	4748	159	6	3	909	3	DPYS	8	105456595	Missense_Mutation	SNP	A	TCGA-BP-5174-01A-01D-1429-08		105456595	40907427	28	23209											
APBA1	320	broad.mit.edu	37	9	72131197	72131197	+	Silent	SNP	G	G	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr9:72131197G>A	ENST00000265381.4	-	2	1152	c.930C>T	c.(928-930)cgC>cgT	p.R310R		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	310	Munc-18-1 binding.|Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R310R(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ggctgtcggggcgacccccgg	0.761																																																1	Substitution - coding silent(1)	kidney(1)											5	5	5					9																	72131197		2058	4064	6122	SO:0001819	synonymous_variant	320			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.930C>T	9.37:g.72131197G>A			O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	CCDS6630.1																																																																																				0.761	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		A	72131197	G	A	72131197	2	1	424	1	0	0	0	0	0	0	0	1	756	1190	42	2		2	APBA1	9	72131197	Silent	SNP	G	TCGA-BP-5174-01A-01D-1429-08		72131197	69082234	29	23210											
SMC5	23137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	72897437	72897437	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr9:72897437A>C	ENST00000361138.5	+	7	977	c.919A>C	c.(919-921)Aca>Cca	p.T307P		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	307					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.T307P(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GATTCCTGTAACATGTCGAAT	0.363																																																1	Substitution - Missense(1)	kidney(1)											93	90	91					9																	72897437		2203	4300	6503	SO:0001583	missense	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.919A>C	9.37:g.72897437A>C	ENSP00000354957:p.Thr307Pro		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.550352	0.45383	.	.	ENSG00000198887	ENST00000361138	T	0.18502	2.21	5.61	3.26	0.37387	RecF/RecN/SMC (1);	0.368055	0.30920	N	0.008605	T	0.27313	0.0670	L	0.47716	1.5	0.09310	N	1	D	0.61697	0.99	P	0.61800	0.894	T	0.04840	-1.0923	10	0.35671	T	0.21	-6.3819	9.587	0.39524	0.7948:0.0:0.2052:0.0	.	307	Q8IY18	SMC5_HUMAN	P	307	ENSP00000354957:T307P	ENSP00000354957:T307P	T	+	1	0	SMC5	72087257	0.018000	0.18449	0.036000	0.18154	0.635000	0.38103	1.479000	0.35453	0.500000	0.27991	0.528000	0.53228	ACA		0.363	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		C	72897437	A	C	72897437	3	2	424	1	0	0	0	0	1	0	0	0	14792	43	2	5	945	5	SMC5	9	72897437	Missense_Mutation	SNP	A	TCGA-BP-5174-01A-01D-1429-08	766240	72897437	68315994	30	23211											
FAM188A	80013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	15879243	15879243	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr10:15879243A>G	ENST00000277632.3	-	6	756	c.536T>C	c.(535-537)tTt>tCt	p.F179S	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	179					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.F179S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CAATACTCCAAATTTATTTCC	0.333																																					Pancreas(159;946 1953 2111 4475 22008)											1	Substitution - Missense(1)	kidney(1)											156	160	159					10																	15879243		2203	4298	6501	SO:0001583	missense	80013			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"caspase recruitment domain containing pro-apoptotic protein", "CARD-containing protein"	611649	"chromosome 10 open reading frame 97"	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.536T>C	10.37:g.15879243A>G	ENSP00000277632:p.Phe179Ser		Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742862	0.49151	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	T;T;T	0.27557	1.66;1.66;1.66	5.82	5.82	0.92795	.	0.140920	0.64402	D	0.000002	T	0.33206	0.0855	L	0.43152	1.355	0.80722	D	1	P	0.37914	0.611	P	0.46049	0.502	T	0.07046	-1.0793	10	0.22109	T	0.4	-19.2014	11.2768	0.49172	0.8638:0.0:0.0:0.1362	.	179	Q9H8M7	F188A_HUMAN	S	179;19;32	ENSP00000277632:F179S;ENSP00000388661:F19S;ENSP00000389883:F32S	ENSP00000277632:F179S	F	-	2	0	FAM188A	15919249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.023000	0.57211	2.217000	0.71921	0.482000	0.46254	TTT		0.333	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		G	15879243	A	G	15879243	3	3	424	1	0	0	0	0	1	0	0	0	5516	14	1	3	841	3	FAM188A	10	15879243	Missense_Mutation	SNP	A	TCGA-BP-5174-01A-01D-1429-08		15879243	119655504	31	23212											
MICAL2	9645	hgsc.bcm.edu	37	11	12243299	12243299	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr11:12243299G>A	ENST00000256194.4	+	10	1603	c.1315G>A	c.(1315-1317)Gct>Act	p.A439T	MICAL2_ENST00000342902.5_Missense_Mutation_p.A439T|MICAL2_ENST00000527546.1_Missense_Mutation_p.A439T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A439T|MICAL2_ENST00000537344.1_Missense_Mutation_p.A439T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	439	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.A439T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGAGCTGCTGGCTGAAAGGTG	0.622																																																1	Substitution - Missense(1)	kidney(1)											62	57	58					11																	12243299		2201	4294	6495	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1315G>A	11.37:g.12243299G>A	ENSP00000256194:p.Ala439Thr		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642899	0.87859	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74	4.93	4.93	0.64822	Calponin homology domain (1);	0.061993	0.64402	D	0.000006	T	0.43344	0.1243	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.992;0.998;0.999;0.999	D;P;D;D;D	0.75020	0.985;0.809;0.927;0.951;0.964	T	0.49624	-0.8920	10	0.87932	D	0	.	17.9297	0.88993	0.0:0.0:1.0:0.0	.	439;439;439;439;439	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	T	439	ENSP00000441689:A439T;ENSP00000256194:A439T;ENSP00000433965:A439T;ENSP00000344894:A439T;ENSP00000368932:A439T	ENSP00000256194:A439T	A	+	1	0	MICAL2	12199875	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.671000	0.83941	2.555000	0.86185	0.655000	0.94253	GCT		0.622	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		A	12243299	G	A	12243299	3	1	424	1	0	0	0	0	1	0	0	0	9572	1203	42	2	1345	2	MICAL2	11	12243299	Missense_Mutation	SNP	G	TCGA-BP-5174-01A-01D-1429-08		12243299	122763217	32	23213											
C11orf41	25758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	33566837	33566837	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr11:33566837C>T	ENST00000321505.4	+	2	2587	c.2407C>T	c.(2407-2409)Cct>Tct	p.P803S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P809S|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P809S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	803						integral component of membrane (GO:0016021)		p.P809S(1)|p.P803S(1)									TGCTGTCCTTCCTGCTGCATC	0.562																																																2	Substitution - Missense(2)	kidney(2)											47	56	53					11																	33566837		2170	4270	6440	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2407C>T	11.37:g.33566837C>T	ENSP00000315295:p.Pro803Ser		B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	4.807	0.150067	0.09185	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.69	2.58	0.30949	.	0.783527	0.12130	N	0.496856	T	0.29882	0.0747	L	0.54323	1.7	0.09310	N	1	P;P	0.42296	0.483;0.775	B;B	0.39660	0.122;0.306	T	0.19516	-1.0303	9	0.45353	T	0.12	-1.7004	3.5515	0.07848	0.2349:0.4031:0.2815:0.0804	.	809;809	E9PAT2;Q6ZVL6-2	.;.	S	803;809;809;642	.	ENSP00000265654:P809S	P	+	1	0	C11orf41	33523413	0.003000	0.15002	0.008000	0.14137	0.011000	0.07611	1.085000	0.30840	0.721000	0.32231	0.549000	0.68633	CCT		0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		T	33566837	C	T	33566837	3	4	424	1	0	0	0	0	1	0	0	0	1642	855	30	2	2431	2	C11orf41	11	33566837	Missense_Mutation	SNP	C	TCGA-BP-5174-01A-01D-1429-08	21323538	33566837	101439679	33	23214											
ELK3	2004	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96640767	96640767	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr12:96640767C>A	ENST00000228741.3	+	3	583	c.257C>A	c.(256-258)tCt>tAt	p.S86Y	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	86					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S86Y(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					AAGTTTGTCTCTTTCCCGGAG	0.527																																																1	Substitution - Missense(1)	kidney(1)											82	86	85					12																	96640767		2203	4300	6503	SO:0001583	missense	2004			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.257C>A	12.37:g.96640767C>A	ENSP00000228741:p.Ser86Tyr		B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255550	0.80135	.	.	ENSG00000111145	ENST00000228741;ENST00000547860	T;T	0.56275	0.47;0.47	5.74	5.74	0.90152	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (2);	0.098116	0.64402	D	0.000001	T	0.72906	0.3519	M	0.76002	2.32	0.80722	D	1	D	0.59767	0.986	D	0.64321	0.924	T	0.74962	-0.3485	10	0.87932	D	0	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	86	P41970	ELK3_HUMAN	Y	86	ENSP00000228741:S86Y;ENSP00000447857:S86Y	ENSP00000228741:S86Y	S	+	2	0	ELK3	95164898	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.686000	0.68211	2.716000	0.92895	0.561000	0.74099	TCT		0.527	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		A	96640767	C	A	96640767	3	1	424	1	0	0	0	0	1	0	0	0	5062	913	32	4	263	4	ELK3	12	96640767	Missense_Mutation	SNP	C	TCGA-BP-5174-01A-01D-1429-08		96640767	37211128	34	23215											
MYH7	4625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23894489	23894489	+	Splice_Site	SNP	A	A	T	rs111726379		TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr14:23894489A>T	ENST00000355349.3	-	21	2586		c.e21+1			NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta						adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.?(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGATCTCTCACCTACGTTCC	0.552																																																1	Unknown(1)	kidney(1)											98	79	85					14																	23894489		2203	4300	6503	SO:0001630	splice_region_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2423+1T>A	14.37:g.23894489A>T			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Splice_Site	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028407	0.75390	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0021	0.64439	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH7	22964329	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	8.369000	0.90118	1.964000	0.57103	0.460000	0.39030	.		0.552	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	Intron	T	23894489	A	T	23894489	5	4	424	1	0	0	0	0	0	0	1	0	10041	173	6	5	3462	5	MYH7	14	23894489	Splice_Site	SNP	A	TCGA-BP-5174-01A-01D-1429-08		23894489	83455051	35	23216											
SLC38A8	146167	hgsc.bcm.edu;ucsc.edu	37	16	84066953	84066953	+	Missense_Mutation	SNP	G	G	C	rs142587413	byFrequency	TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr16:84066953G>C	ENST00000299709.3	-	3	509	c.510C>G	c.(508-510)atC>atG	p.I170M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	170					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.I170M(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTGGAAGGCGATCTCCCGCG	0.657																																																1	Substitution - Missense(1)	kidney(1)											88	101	96					16																	84066953		2200	4300	6500	SO:0001583	missense	146167				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.510C>G	16.37:g.84066953G>C	ENSP00000299709:p.Ile170Met			Missense_Mutation	SNP	ENST00000299709.3	37	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781426	0.49891	.	.	ENSG00000166558	ENST00000299709	T	0.02472	4.28	4.77	1.6	0.23607	.	0.111276	0.64402	D	0.000014	T	0.12178	0.0296	M	0.77820	2.39	0.51482	D	0.999925	D	0.89917	1.0	D	0.97110	1.0	T	0.00337	-1.1807	10	0.48119	T	0.1	-7.5969	9.8714	0.41177	0.2316:0.0:0.7684:0.0	.	170	A6NNN8	S38A8_HUMAN	M	170	ENSP00000299709:I170M	ENSP00000299709:I170M	I	-	3	3	SLC38A8	82624454	0.004000	0.15560	0.982000	0.44146	0.648000	0.38561	-0.049000	0.11924	0.156000	0.19299	0.643000	0.83706	ATC		0.657	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		C	84066953	G	C	84066953	3	2	424	1	0	0	0	0	1	0	0	0	14616	1048	37	4	829	4	SLC38A8	16	84066953	Missense_Mutation	SNP	G	TCGA-BP-5174-01A-01D-1429-08		84066953	6287800	36	23217											
LILRA2	11027	broad.mit.edu	37	19	55086976	55086976	+	Silent	SNP	C	C	T	rs200182124		TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr19:55086976C>T	ENST00000251377.3	+	6	1042	c.909C>T	c.(907-909)tcC>tcT	p.S303S	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.S291S|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRA2_ENST00000251376.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	303	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S303S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCTCTCCTCCGAGTGGTCGG	0.672																																																1	Substitution - coding silent(1)	kidney(1)											45	49	47					19																	55086976		2203	4299	6502	SO:0001819	synonymous_variant	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.909C>T	19.37:g.55086976C>T			O75020	Silent	SNP	ENST00000251377.3	37	CCDS46179.1																																																																																				0.672	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			T	55086976	C	T	55086976	2	4	424	1	0	0	0	0	0	0	0	1	8787	639	23	1		1	LILRA2	19	55086976	Silent	SNP	C	TCGA-BP-5174-01A-01D-1429-08		55086976	4042007	37	23218											
ADIG	149685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37214721	37214721	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr20:37214721C>A	ENST00000537425.1	+	2	230	c.159C>A	c.(157-159)agC>agA	p.S53R		NM_001018082.1	NP_001018092.1			adipogenin									p.S53R(2)		endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				AGCCCTGGAGCAAAGGCCCAG	0.582																																																2	Substitution - Missense(2)	kidney(2)											38	42	41					20																	37214721		1984	4163	6147	SO:0001583	missense	149685			BC029594	CCDS54461.1	20q11.23	2014-02-12	2007-03-29		ENSG00000182035	ENSG00000182035			28606	protein-coding gene	gene with protein product	"small adipocyte factor 1"	611396	"adipogenesis associated"			15567149, 16132694	Standard	NM_001018082		Approved	MGC39724, SMAF1, RP5-1100H13.2	uc002xjb.1	Q0VDE8	OTTHUMG00000032451	ENST00000537425.1:c.159C>A	20.37:g.37214721C>A	ENSP00000440331:p.Ser53Arg			Missense_Mutation	SNP	ENST00000537425.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.05|19.05	3.751067|3.751067	0.69533|0.69533	.|.	.|.	ENSG00000182035|ENSG00000182035	ENST00000416116|ENST00000537425	.|.	.|.	.|.	3.98|3.98	3.98|3.98	0.46160|0.46160	.|.	.|0.000000	.|0.39475	.|U	.|0.001350	T|T	0.57725|0.57725	0.2073|0.2073	.|.	.|.	.|.	0.29943|0.29943	N|N	0.820889|0.820889	.|D	.|0.57257	.|0.979	.|P	.|0.56563	.|0.801	T|T	0.60551|0.60551	-0.7241|-0.7241	4|8	.|0.87932	.|D	.|0	-1.9079|-1.9079	11.7364|11.7364	0.51767|0.51767	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|58	.|Q0VDE8	.|ADIG_HUMAN	E|R	40|53	.|.	.|ENSP00000434385:S58R	A|S	+|+	2|3	0|2	ADIG|ADIG	36648135|36648135	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.836000|0.836000	0.47400|0.47400	2.941000|2.941000	0.49011|0.49011	2.218000|2.218000	0.71995|0.71995	0.462000|0.462000	0.41574|0.41574	GCA|AGC		0.582	ADIG-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001018082		A	37214721	C	A	37214721	3	1	424	1	0	0	0	0	1	0	0	0	316	709	25	4	180	4	ADIG	20	37214721	Missense_Mutation	SNP	C	TCGA-BP-5174-01A-01D-1429-08		37214721	25810799	38	23219											
C20orf108	116151	hgsc.bcm.edu;ucsc.edu	37	20	54941313	54941314	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr20:54941313_54941314insT	ENST00000371384.3	+	3	640_641	c.549_550insT	c.(550-552)tttfs	p.F184fs		NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B	184	DUF1279.					integral component of membrane (GO:0016021)											GAAAAGTGGGATTTTTTAAACC	0.406																																																0																																										SO:0001589	frameshift_variant	0			AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"hypothetical protein LOC116151"		"chromosome 20 open reading frame 108"	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793	ENST00000371384.3:c.555dupT	20.37:g.54941319_54941319dupT	ENSP00000360437:p.Phe184fs		B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Frame_Shift_Ins	INS	ENST00000371384.3	37	CCDS13450.1																																																																																				0.406	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		T	54941314	-	T	54941313	7	5	424	1	0	1	1	0	0	0	0	0	2080	320	12	0	559	0	C20orf108	20	54941313	Frame_Shift_Ins	INS	-	TCGA-BP-5174-01A-01D-1429-08	17726592	54941313	8084207	39	23220											
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	41385099	41385099	+	Silent	SNP	G	G	A			TCGA-BP-5174-01A-01D-1429-08	TCGA-BP-5174-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	53b5cf8d-f3cf-4e7e-91ec-b0c907d1c13f	7ad1d38e-234e-42e5-8518-258dc6c72e00	g.chr21:41385099G>A	ENST00000400454.1	-	33	6378	c.5901C>T	c.(5899-5901)gcC>gcT	p.A1967A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1967				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A1967A(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGTGGCCACGGCCCCCGGCT	0.652																																					Melanoma(134;970 1778 1785 21664 32388)											3	Substitution - coding silent(3)	lung(1)|kidney(1)|endometrium(1)											27	29	28					21																	41385099		1931	4140	6071	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5901C>T	21.37:g.41385099G>A			O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.652	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41385099	G	A	41385099	2	1	424	1	0	0	0	0	0	0	0	1	4770	1103	39	1		1	DSCAM	21	41385099	Silent	SNP	G	TCGA-BP-5174-01A-01D-1429-08		41385099	6744796	40	23221											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11217299	11217299	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr1:11217299A>G	ENST00000361445.4	-	30	4455	c.4379T>C	c.(4378-4380)cTt>cCt	p.L1460P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1460	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L1460P(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATAGGCCACAAGGGCATCCTC	0.547																																																2	Substitution - Missense(2)	kidney(2)											165	135	145					1																	11217299		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4379T>C	1.37:g.11217299A>G	ENSP00000354558:p.Leu1460Pro		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926312	0.73327	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	D	0.81659	-1.52	5.69	4.55	0.56014	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.83862	0.5346	M	0.91406	3.205	0.80722	D	1	P	0.48407	0.91	B	0.41271	0.352	D	0.85851	0.1404	10	0.87932	D	0	.	12.0845	0.53690	0.8709:0.0:0.0:0.1291	.	1460	P42345	MTOR_HUMAN	P	1460	ENSP00000354558:L1460P	ENSP00000354558:L1460P	L	-	2	0	MTOR	11139886	1.000000	0.71417	0.028000	0.17463	0.806000	0.45545	8.871000	0.92346	0.955000	0.37878	0.533000	0.62120	CTT		0.547	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11217299	A	G	11217299	3	3	425	1	0	0	0	0	1	0	0	0	9956	72	3	3	3386	3	MTOR	1	11217299	Missense_Mutation	SNP	A	TCGA-BP-5175-01A-01D-1429-08		11217299	238033322	1	23222											
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19455528	19455528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr1:19455528G>A	ENST00000375254.3	-	61	8974	c.8947C>T	c.(8947-8949)Cag>Tag	p.Q2983*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q2959*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q2976*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.Q2983*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2983					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q2983*(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCAGGGTCTGCAGTAATCTC	0.493																																																1	Substitution - Nonsense(1)	kidney(1)											139	115	123					1																	19455528		2203	4300	6503	SO:0001587	stop_gained	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8947C>T	1.37:g.19455528G>A	ENSP00000364403:p.Gln2983*		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	44	10.935574	0.99491	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.115	0.93334	0.0:0.0:1.0:0.0	.	.	.	.	X	2983;2983;2976;2959;591;1669	.	ENSP00000364365:Q2976X	Q	-	1	0	UBR4	19328115	1.000000	0.71417	0.994000	0.49952	0.926000	0.56050	9.093000	0.94163	2.607000	0.88179	0.563000	0.77884	CAG		0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19455528	G	A	19455528	4	1	425	1	0	0	0	0	0	1	0	0	16909	1328	46	2	6788	2	UBR4	1	19455528	Nonsense_Mutation	SNP	G	TCGA-BP-5175-01A-01D-1429-08	8238229	19455528	229795093	2	23223											
COL24A1	255631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	86453338	86453338	+	Splice_Site	SNP	C	C	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr1:86453338C>A	ENST00000370571.2	-	20	2677		c.e20-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGGAAAACCCTAGGGAATAT	0.358																																																1	Unknown(1)	kidney(1)											57	56	56					1																	86453338		1805	4070	5875	SO:0001630	splice_region_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2311-1G>T	1.37:g.86453338C>A			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.842102	0.71488	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8327	0.70159	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	86225926	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.104000	0.57790	2.561000	0.86390	0.591000	0.81541	.		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Intron	A	86453338	C	A	86453338	5	1	425	1	0	0	0	0	0	0	1	0	3685	695	24	4	2998	4	COL24A1	1	86453338	Splice_Site	SNP	C	TCGA-BP-5175-01A-01D-1429-08	66997810	86453338	162797283	3	23224											
GPATCH4	54865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156565621	156565621	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr1:156565621G>T	ENST00000438976.2	-	8	542	c.512C>A	c.(511-513)aCa>aAa	p.T171K	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000368232.4_Missense_Mutation_p.T166K			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	166							poly(A) RNA binding (GO:0044822)	p.T166K(1)		autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCTTCATTGTGATCCCAAG	0.597																																																1	Substitution - Missense(1)	kidney(1)											21	22	22					1																	156565621		2171	4257	6428	SO:0001583	missense	54865			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.512C>A	1.37:g.156565621G>T	ENSP00000396441:p.Thr171Lys		Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584118	0.65992	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976;ENST00000415314	T;T;T	0.42513	0.97;0.97;0.97	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	L	0.35542	1.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.29792	-1.0000	10	0.38643	T	0.18	-20.5267	18.6835	0.91556	0.0:0.0:1.0:0.0	.	171;166	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	K	166;166;171;137	ENSP00000357215:T166K;ENSP00000396441:T171K;ENSP00000412620:T137K	ENSP00000357212:T166K	T	-	2	0	GPATCH4	154832245	1.000000	0.71417	0.840000	0.33206	0.779000	0.44077	5.900000	0.69853	2.757000	0.94681	0.655000	0.94253	ACA		0.597	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		T	156565621	G	T	156565621	3	4	425	1	0	0	0	0	1	0	0	0	6595	1377	48	4	619	4	GPATCH4	1	156565621	Missense_Mutation	SNP	G	TCGA-BP-5175-01A-01D-1429-08	70112283	156565621	92685000	4	23225											
DEDD	9191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161093979	161093979	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr1:161093979T>A	ENST00000368006.3	-	3	488	c.274A>T	c.(274-276)Atc>Ttc	p.I92F	DEDD_ENST00000392188.1_Missense_Mutation_p.I92F|DEDD_ENST00000458050.2_Missense_Mutation_p.I92F|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000368005.1_Missense_Mutation_p.I92F|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000490843.2_Missense_Mutation_p.I92F|DEDD_ENST00000545495.1_Missense_Mutation_p.I92F	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	92	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)	p.I92F(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGGCGAGTGATGATGCGCAGC	0.577																																																1	Substitution - Missense(1)	kidney(1)											82	75	77					1																	161093979		2203	4300	6503	SO:0001583	missense	9191			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"death effector domain-containing"			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.274A>T	1.37:g.161093979T>A	ENSP00000356985:p.Ile92Phe		D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	37	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.148729	0.78001	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.66	3.21	0.36854	DEATH-like (2);Death effector (3);	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.46157	1.445	0.80722	D	1	P;D;D	0.69078	0.926;0.997;0.986	B;D;P	0.64321	0.423;0.924;0.757	T	0.57388	-0.7820	9	0.72032	D	0.01	.	6.6393	0.22901	0.0:0.082:0.1546:0.7633	.	49;92;92	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	F	92;92;92;92;92;92;49	.	ENSP00000356984:I92F	I	-	1	0	DEDD	159360603	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.589000	0.67523	0.980000	0.38523	-0.256000	0.11100	ATC		0.577	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	NM_004216		A	161093979	T	A	161093979	3	1	425	1	0	0	0	0	1	0	0	0	4386	1464	51	5	698	5	DEDD	1	161093979	Missense_Mutation	SNP	T	TCGA-BP-5175-01A-01D-1429-08	4528358	161093979	88156642	5	23226											
PCP4L1	654790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161254256	161254256	+	Frame_Shift_Del	DEL	G	G	-	rs116246087	byFrequency	TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr1:161254256delG	ENST00000504449.1	+	3	440	c.192delG	c.(190-192)aagfs	p.K64fs		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	64	IQ.									endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAAGGAAAAAGGATCCCAGCT	0.517																																																0													56	59	58					1																	161254256		1947	4142	6089	SO:0001589	frameshift_variant	654790			BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"purkinje cell protein 4 like 1"				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.192delG	1.37:g.161254256delG	ENSP00000426296:p.Lys64fs		B2RV24|B9EJG4	Frame_Shift_Del	DEL	ENST00000504449.1	37	CCDS53412.1																																																																																				0.517	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			-	161254256	G	-	161254256	7	5	425	1	0	1	0	1	0	0	0	0	11601	991	35	0	202	0	PCP4L1	1	161254256	Frame_Shift_Del	DEL	G	TCGA-BP-5175-01A-01D-1429-08	160277	161254256	87996365	6	23227											
KIDINS220	57498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	8953448	8953448	+	Silent	SNP	A	A	C			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr2:8953448A>C	ENST00000256707.3	-	5	505	c.324T>G	c.(322-324)ctT>ctG	p.L108L	KIDINS220_ENST00000473731.1_Silent_p.L108L|KIDINS220_ENST00000427284.1_Silent_p.L108L|KIDINS220_ENST00000319688.5_Silent_p.L108L|KIDINS220_ENST00000418530.1_Silent_p.L66L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	108					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.L108L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGCCCACATAAGAGCTGTCC	0.378																																																1	Substitution - coding silent(1)	kidney(1)											146	134	138					2																	8953448		1888	4127	6015	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.324T>G	2.37:g.8953448A>C			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	CCDS42650.1																																																																																				0.378	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		C	8953448	A	C	8953448	2	2	425	1	0	0	0	0	0	0	0	1	8273	349	13	5		5	KIDINS220	2	8953448	Silent	SNP	A	TCGA-BP-5175-01A-01D-1429-08		8953448	234245925	7	23228											
C2orf49	79074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	105959481	105959481	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr2:105959481G>A	ENST00000258457.2	+	3	672	c.443G>A	c.(442-444)aGt>aAt	p.S148N	C2orf49_ENST00000437250.2_Intron|C2orf49_ENST00000410049.1_Intron			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	148					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)		p.S148N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						TCCTCTTCGAGTGTTTCACCC	0.393																																																1	Substitution - Missense(1)	kidney(1)											115	113	114					2																	105959481		2203	4300	6503	SO:0001583	missense	79074			BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"ashwin"					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.443G>A	2.37:g.105959481G>A	ENSP00000258457:p.Ser148Asn		B3KXN3|B4E2G9	Missense_Mutation	SNP	ENST00000258457.2	37	CCDS2068.1	.	.	.	.	.	.	.	.	.	.	G	5.842	0.339498	0.11069	.	.	ENSG00000135974	ENST00000258457	T	0.48836	0.8	4.6	-2.37	0.06643	.	1.437920	0.03884	N	0.277570	T	0.26919	0.0659	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11891	-1.0569	10	0.02654	T	1	0.9307	0.7941	0.01063	0.4283:0.1363:0.1607:0.2748	.	148	Q9BVC5	ASHWN_HUMAN	N	148	ENSP00000258457:S148N	ENSP00000258457:S148N	S	+	2	0	C2orf49	105325913	0.861000	0.29849	0.153000	0.22517	0.985000	0.73830	0.532000	0.23067	-0.351000	0.08249	0.650000	0.86243	AGT		0.393	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253353.2	NM_024093		A	105959481	G	A	105959481	3	1	425	1	0	0	0	0	1	0	0	0	2173	1029	36	2	453	2	C2orf49	2	105959481	Missense_Mutation	SNP	G	TCGA-BP-5175-01A-01D-1429-08	97006033	105959481	137239892	8	23229											
GPR17	2840	broad.mit.edu	37	2	128407597	128407597	+	Missense_Mutation	SNP	G	G	A	rs200450704	byFrequency	TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr2:128407597G>A	ENST00000272644.3	+	2	85	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	LIMS2_ENST00000410038.1_5'Flank|GPR17_ENST00000393018.3_Missense_Mutation_p.R4Q|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409254.1_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.R4Q|GPR17_ENST00000486700.1_Intron|LIMS2_ENST00000409455.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	4					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.R4Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		ATGTCCAAACGGAGTTGGTGG	0.547											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	3	0.000599042	0.0	0.0	5008	,	,		19487	0.0		0.0	False		,,,				2504	0.0031															1	Substitution - Missense(1)	kidney(1)											49	44	46					2																	128407597		2203	4299	6502	SO:0001583	missense	2840				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"GPCR / Class A : Orphans"	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.11G>A	2.37:g.128407597G>A	ENSP00000272644:p.Arg4Gln	1564	A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	g	2.933	-0.220651	0.06061	.	.	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000423019;ENST00000393018	T;T;T;T	0.66280	-0.2;-0.2;0.21;-0.2	2.5	-5.01	0.02991	.	7.205300	0.01126	U	0.005883	T	0.42653	0.1212	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41197	-0.9522	10	0.49607	T	0.09	.	11.0809	0.48059	0.7823:0.0:0.2177:0.0	.	4	Q13304	GPR17_HUMAN	Q	4	ENSP00000442982:R4Q;ENSP00000272644:R4Q;ENSP00000387970:R4Q;ENSP00000376741:R4Q	ENSP00000272644:R4Q	R	+	2	0	GPR17	128124067	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.117000	0.03283	-1.899000	0.01098	-0.948000	0.02665	CGG		0.547	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			A	128407597	G	A	128407597	3	1	425	1	0	0	0	0	1	0	0	0	6669	1116	39	1	13	1	GPR17	2	128407597	Missense_Mutation	SNP	G	TCGA-BP-5175-01A-01D-1429-08	22448116	128407597	114791776	9	23230											
ZNF804A	91752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	185802977	185802977	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr2:185802977T>C	ENST00000302277.6	+	4	3448	c.2854T>C	c.(2854-2856)Ttt>Ctt	p.F952L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	952							metal ion binding (GO:0046872)	p.F952L(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCAAATTCCTTTTCAGGTGCC	0.388																																																1	Substitution - Missense(1)	kidney(1)											75	74	74					2																	185802977		2203	4300	6503	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2854T>C	2.37:g.185802977T>C	ENSP00000303252:p.Phe952Leu		A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	2.974	-0.211832	0.06140	.	.	ENSG00000170396	ENST00000302277	T	0.05513	3.43	5.26	-0.313	0.12754	.	0.648512	0.14267	N	0.330415	T	0.02970	0.0088	N	0.13043	0.29	0.22521	N	0.999023	B	0.02656	0.0	B	0.01281	0.0	T	0.48375	-0.9041	10	0.07990	T	0.79	-0.5286	6.8567	0.24044	0.0:0.2767:0.1159:0.6075	.	952	Q7Z570	Z804A_HUMAN	L	952	ENSP00000303252:F952L	ENSP00000303252:F952L	F	+	1	0	ZNF804A	185511222	0.970000	0.33590	0.970000	0.41538	0.335000	0.28730	0.089000	0.15002	-0.661000	0.05345	-1.773000	0.00660	TTT		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		C	185802977	T	C	185802977	3	2	425	1	0	0	0	0	1	0	0	0	18175	1841	64	3	2868	3	ZNF804A	2	185802977	Missense_Mutation	SNP	T	TCGA-BP-5175-01A-01D-1429-08	57395380	185802977	57396396	10	23231											
CUL3	8452	hgsc.bcm.edu;ucsc.edu	37	2	225370726	225370727	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr2:225370726_225370727delGA	ENST00000264414.4	-	8	1490_1491	c.1152_1153delTC	c.(1150-1155)tctcctfs	p.P385fs	CUL3_ENST00000409096.1_Frame_Shift_Del_p.P361fs|CUL3_ENST00000409777.1_Frame_Shift_Del_p.P361fs|CUL3_ENST00000344951.4_Frame_Shift_Del_p.P319fs	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	385					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AGGTATTCAGGAGACCTGGAGT	0.356																																																0																																										SO:0001589	frameshift_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1152_1153delTC	2.37:g.225370728_225370729delGA	ENSP00000264414:p.Pro385fs		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Frame_Shift_Del	DEL	ENST00000264414.4	37	CCDS2462.1																																																																																				0.356	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			-	225370727	GA	-	225370726	7	5	425	1	0	1	0	1	0	0	0	0	4058	1174	41	0	1189	0	CUL3	2	225370726	Frame_Shift_Del	DEL	GA	TCGA-BP-5175-01A-01D-1429-08	39567749	225370726	17828647	11	23232											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10183752	10183752	+	Missense_Mutation	SNP	T	T	A	rs5030803		TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr3:10183752T>A	ENST00000256474.2	+	1	1061	c.221T>A	c.(220-222)gTc>gAc	p.V74D	VHL_ENST00000345392.2_Missense_Mutation_p.V74D|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	74			V -> G (in VHLD; type I-II; dbSNP:rs5030803). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V74D(8)|p.V74A(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.P71fs*56(1)|p.V74>?(1)|p.V74fs*77(1)|p.V74fs*82(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCTCCCAGGTCATCTTCTGC	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	18	Substitution - Missense(9)|Deletion - Frameshift(6)|Complex - deletion inframe(1)|Deletion - In frame(1)|Complex(1)	kidney(17)|soft_tissue(1)	GRCh37	CM961417	VHL	M	rs5030803						10	14	12					3																	10183752		2163	4233	6396	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.221T>A	3.37:g.10183752T>A	ENSP00000256474:p.Val74Asp		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.947597	0.92593	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99842	-7.1;-7.1	5.34	4.16	0.48862	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.120953	0.56097	D	0.000027	D	0.99697	0.9885	M	0.73962	2.25	0.53688	D	0.999978	D;D	0.76494	0.998;0.999	D;D	0.70935	0.944;0.971	D	0.97903	1.0304	10	0.87932	D	0	-6.556	10.613	0.45434	0.0:0.0:0.1618:0.8382	.	74;74	P40337-2;P40337	.;VHL_HUMAN	D	74	ENSP00000256474:V74D;ENSP00000344757:V74D	ENSP00000256474:V74D	V	+	2	0	VHL	10158752	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.431000	0.52814	0.851000	0.35264	0.450000	0.29827	GTC		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183752	T	A	10183752	3	1	425	1	0	0	0	0	1	0	0	0	17167	1667	58	5	223	5	VHL	3	10183752	Missense_Mutation	SNP	T	TCGA-BP-5175-01A-01D-1429-08		10183752	187838678	12	23233											
OXSR1	9943	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38287677	38287677	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr3:38287677C>G	ENST00000446845.1	+	13	1594	c.1222C>G	c.(1222-1224)Ctc>Gtc	p.L408V	OXSR1_ENST00000311806.3_Missense_Mutation_p.L408V					oxidative stress responsive 1									p.L408V(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCAAGTCTCTCTCCCACCCAC	0.493																																																1	Substitution - Missense(1)	kidney(1)											117	108	111					3																	38287677		2203	4300	6503	SO:0001583	missense	9943			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.1222C>G	3.37:g.38287677C>G	ENSP00000415851:p.Leu408Val			Missense_Mutation	SNP	ENST00000446845.1	37		.	.	.	.	.	.	.	.	.	.	C	11.26	1.587511	0.28268	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.71698	-0.59;-0.57	5.72	-0.076	0.13724	.	0.711400	0.14848	N	0.294896	T	0.39733	0.1089	N	0.02539	-0.55	0.22199	N	0.999295	B	0.02656	0.0	B	0.01281	0.0	T	0.27088	-1.0084	10	0.27082	T	0.32	-1.4678	8.0484	0.30564	0.1002:0.386:0.4455:0.0683	.	408	O95747	OXSR1_HUMAN	V	408	ENSP00000415851:L408V;ENSP00000311713:L408V	ENSP00000311713:L408V	L	+	1	0	OXSR1	38262681	0.899000	0.30636	0.743000	0.31040	0.975000	0.68041	0.727000	0.25999	0.102000	0.17638	-0.156000	0.13503	CTC		0.493	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		G	38287677	C	G	38287677	3	3	425	1	0	0	0	0	1	0	0	0	11338	913	32	4	1272	4	OXSR1	3	38287677	Missense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08	28103925	38287677	159734753	13	23234											
FBXO40	51725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121340772	121340772	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr3:121340772G>T	ENST00000338040.4	+	3	910	c.496G>T	c.(496-498)Gtg>Ttg	p.V166L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	166					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V166L(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TGAAACCAGTGTGGAGGAAAT	0.483																																																1	Substitution - Missense(1)	kidney(1)											115	123	121					3																	121340772		2203	4300	6503	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.496G>T	3.37:g.121340772G>T	ENSP00000337510:p.Val166Leu		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.740529	0.00675	.	.	ENSG00000163833	ENST00000338040	T	0.40225	1.04	4.93	1.18	0.20946	.	0.806546	0.11880	N	0.520569	T	0.12817	0.0311	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	10	0.10377	T	0.69	-0.6131	5.6164	0.17434	0.0:0.0917:0.3473:0.561	.	166	Q9UH90	FBX40_HUMAN	L	166	ENSP00000337510:V166L	ENSP00000337510:V166L	V	+	1	0	FBXO40	122823462	0.631000	0.27164	0.124000	0.21820	0.000000	0.00434	1.358000	0.34102	0.056000	0.16144	-1.036000	0.02392	GTG		0.483	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		T	121340772	G	T	121340772	3	4	425	1	0	0	0	0	1	0	0	0	5751	1377	48	4	502	4	FBXO40	3	121340772	Missense_Mutation	SNP	G	TCGA-BP-5175-01A-01D-1429-08	83053095	121340772	76681658	14	23235											
GPR78	27201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8584302	8584302	+	Missense_Mutation	SNP	G	G	A	rs202089891		TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr4:8584302G>A	ENST00000382487.4	+	2	1130	c.713G>A	c.(712-714)cGc>cAc	p.R238H	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	238					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R238H(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGCCGCCACCGCGCCACCAGG	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18078	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											124	104	111					4																	8584302		2203	4300	6503	SO:0001583	missense	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.713G>A	4.37:g.8584302G>A	ENSP00000371927:p.Arg238His		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	CCDS3403.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.69	2.909159	0.52439	.	.	ENSG00000155269	ENST00000382487	T	0.43688	0.94	2.33	-0.039	0.13878	GPCR, rhodopsin-like superfamily (1);	0.075120	0.46758	U	0.000269	T	0.48370	0.1496	L	0.54323	1.7	0.09310	N	1	D	0.64830	0.994	P	0.60541	0.876	T	0.42481	-0.9449	10	0.87932	D	0	.	6.6738	0.23083	0.2798:0.0:0.7202:0.0	.	238	Q96P69	GPR78_HUMAN	H	238	ENSP00000371927:R238H	ENSP00000371927:R238H	R	+	2	0	GPR78	8635202	0.098000	0.21812	0.000000	0.03702	0.001000	0.01503	1.431000	0.34925	-0.451000	0.07097	-0.253000	0.11424	CGC		0.627	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			A	8584302	G	A	8584302	3	1	425	1	0	0	0	0	1	0	0	0	6712	1087	38	1	719	1	GPR78	4	8584302	Missense_Mutation	SNP	G	TCGA-BP-5175-01A-01D-1429-08		8584302	182569974	15	23236											
UBA6	55236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	68514833	68514833	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr4:68514833C>T	ENST00000322244.5	-	14	1260	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	401					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.E401K(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTCAATACTTCTTGGCTGGCA	0.418																																																1	Substitution - Missense(1)	kidney(1)											92	99	97					4																	68514833		2203	4300	6503	SO:0001583	missense	55236			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1201G>A	4.37:g.68514833C>T	ENSP00000313454:p.Glu401Lys		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398995	0.96030	.	.	ENSG00000033178	ENST00000322244	T	0.71934	-0.61	5.22	5.22	0.72569	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89399	0.6704	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92357	0.5894	10	0.87932	D	0	-19.2896	19.1348	0.93422	0.0:1.0:0.0:0.0	.	401	A0AVT1	UBA6_HUMAN	K	401	ENSP00000313454:E401K	ENSP00000313454:E401K	E	-	1	0	UBA6	68197428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.002000	0.76304	2.594000	0.87642	0.585000	0.79938	GAA		0.418	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		T	68514833	C	T	68514833	3	4	425	1	0	0	0	0	1	0	0	0	16837	922	32	2	2037	2	UBA6	4	68514833	Missense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08	59930531	68514833	122639443	16	23237											
NDST4	64579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	115858556	115858556	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr4:115858556C>T	ENST00000264363.2	-	5	2003	c.1325G>A	c.(1324-1326)gGt>gAt	p.G442D		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	442	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.G442D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACTTGAATACCCCAGACCTT	0.498																																																1	Substitution - Missense(1)	kidney(1)											177	164	169					4																	115858556		2203	4300	6503	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1325G>A	4.37:g.115858556C>T	ENSP00000264363:p.Gly442Asp		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904959	0.33628	.	.	ENSG00000138653	ENST00000264363	T	0.35789	1.29	5.77	3.98	0.46160	.	0.548102	0.21526	N	0.073127	T	0.25195	0.0612	L	0.34521	1.04	0.33592	D	0.601162	B	0.06786	0.001	B	0.15052	0.012	T	0.20405	-1.0276	10	0.37606	T	0.19	.	6.6905	0.23169	0.0:0.5641:0.0:0.4359	.	442	Q9H3R1	NDST4_HUMAN	D	442	ENSP00000264363:G442D	ENSP00000264363:G442D	G	-	2	0	NDST4	116078005	0.945000	0.32115	1.000000	0.80357	0.993000	0.82548	0.595000	0.24029	0.699000	0.31761	-0.140000	0.14226	GGT		0.498	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		T	115858556	C	T	115858556	3	4	425	1	0	0	0	0	1	0	0	0	10260	507	18	2	1333	2	NDST4	4	115858556	Missense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08	47343723	115858556	75295720	17	23238											
BRD9	65980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	864640	864640	+	Silent	SNP	G	G	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr5:864640G>T	ENST00000467963.1	-	16	1903	c.1737C>A	c.(1735-1737)acC>acA	p.T579T	BRD9_ENST00000483173.1_Silent_p.T526T|BRD9_ENST00000323510.4_Silent_p.T483T|BRD9_ENST00000388890.4_Silent_p.T463T	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	579					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.T483T(1)|p.T579T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGGGGTCGTGGGTGACGTCTG	0.512																																																2	Substitution - coding silent(2)	kidney(2)											74	77	76					5																	864640		2203	4300	6503	SO:0001819	synonymous_variant	65980			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1737C>A	5.37:g.864640G>T			A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	CCDS34127.2																																																																																				0.512	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		T	864640	G	T	864640	2	4	425	1	0	0	0	0	0	0	0	1	1509	1219	43	4		4	BRD9	5	864640	Silent	SNP	G	TCGA-BP-5175-01A-01D-1429-08		864640	180050620	18	23239											
CDH12	1010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	21783501	21783501	+	Silent	SNP	C	C	T	rs371565243		TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr5:21783501C>T	ENST00000382254.1	-	11	2445	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Silent_p.A413A|CDH12_ENST00000504376.2_Silent_p.A453A	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A453A(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AATTATACTGCGCAGTGCTTT	0.373										HNSCC(59;0.17)																																						1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	183	179	181		1359	-10.9	0	5		181	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH12	NM_004061.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		453/795	21783501	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1359G>A	5.37:g.21783501C>T			B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	CCDS3890.1																																																																																				0.373	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		T	21783501	C	T	21783501	2	4	425	1	0	0	0	0	0	0	0	1	3100	755	27	1		1	CDH12	5	21783501	Silent	SNP	C	TCGA-BP-5175-01A-01D-1429-08	20918861	21783501	159131759	19	23240											
PDZD2	23037	broad.mit.edu;hgsc.bcm.edu	37	5	32088233	32088233	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr5:32088233C>T	ENST00000438447.1	+	20	5067	c.4679C>T	c.(4678-4680)tCt>tTt	p.S1560F	PDZD2_ENST00000282493.3_Missense_Mutation_p.S1560F			O15018	PDZD2_HUMAN	PDZ domain containing 2	1560					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.S1560F(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GATTCTTCTTCTGACCCTGAG	0.557																																																1	Substitution - Missense(1)	kidney(1)											72	71	71					5																	32088233		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4679C>T	5.37:g.32088233C>T	ENSP00000402033:p.Ser1560Phe		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452175	0.63290	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.31510	1.49;1.49	5.36	5.36	0.76844	.	0.000000	0.51477	D	0.000095	T	0.55178	0.1904	M	0.65498	2.005	0.36437	D	0.865251	D	0.76494	0.999	D	0.83275	0.996	T	0.64533	-0.6385	10	0.87932	D	0	.	16.5934	0.84781	0.0:1.0:0.0:0.0	.	1560	O15018	PDZD2_HUMAN	F	1560;1361;1560	ENSP00000402033:S1560F;ENSP00000282493:S1560F	ENSP00000282493:S1560F	S	+	2	0	PDZD2	32123990	0.998000	0.40836	0.084000	0.20598	0.498000	0.33706	5.359000	0.66074	2.520000	0.84964	0.655000	0.94253	TCT		0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32088233	C	T	32088233	3	4	425	1	0	0	0	0	1	0	0	0	11703	913	32	2	4753	2	PDZD2	5	32088233	Missense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08	10304732	32088233	148827027	20	23241	173	2									
PDZD2	23037	broad.mit.edu;hgsc.bcm.edu	37	5	32088238	32088238	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr5:32088238C>T	ENST00000438447.1	+	20	5072	c.4684C>T	c.(4684-4686)Cct>Tct	p.P1562S	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1562S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1562					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.P1562S(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTCTTCTGACCCTGAGTCACT	0.562																																																1	Substitution - Missense(1)	kidney(1)											73	72	72					5																	32088238		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4684C>T	5.37:g.32088238C>T	ENSP00000402033:p.Pro1562Ser		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494425	0.44352	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.34472	1.36;1.36	5.36	2.57	0.30868	.	0.246858	0.29342	N	0.012430	T	0.33265	0.0857	L	0.49350	1.555	0.32878	D	0.510142	P	0.48503	0.911	P	0.46940	0.532	T	0.47749	-0.9093	10	0.66056	D	0.02	.	4.4746	0.11729	0.1569:0.5956:0.0:0.2475	.	1562	O15018	PDZD2_HUMAN	S	1562;1363;1562	ENSP00000402033:P1562S;ENSP00000282493:P1562S	ENSP00000282493:P1562S	P	+	1	0	PDZD2	32123995	0.575000	0.26692	0.998000	0.56505	0.448000	0.32197	0.055000	0.14229	0.641000	0.30601	-0.181000	0.13052	CCT		0.562	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32088238	C	T	32088238	3	4	425	1	0	0	0	0	1	0	0	0	11703	623	22	2	4758	2	PDZD2	5	32088238	Missense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08	5	32088238	148827022	21	23242	173	2									
PDZD2	23037	broad.mit.edu;hgsc.bcm.edu	37	5	32090571	32090571	+	Silent	SNP	C	C	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr5:32090571C>T	ENST00000438447.1	+	20	7405	c.7017C>T	c.(7015-7017)atC>atT	p.I2339I	PDZD2_ENST00000282493.3_Silent_p.I2339I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2339					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.I2339I(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCAGCGGATCAAGTCTTTTG	0.527																																																1	Substitution - coding silent(1)	kidney(1)											55	54	54					5																	32090571		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7017C>T	5.37:g.32090571C>T			Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32090571	C	T	32090571	2	4	425	1	0	0	0	0	0	0	0	1	11703	816	29	2		2	PDZD2	5	32090571	Silent	SNP	C	TCGA-BP-5175-01A-01D-1429-08	2333	32090571	148824689	22	23243											
PDE6A	5145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149240511	149240511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr5:149240511C>A	ENST00000255266.5	-	22	2649	c.2530G>T	c.(2530-2532)Gga>Tga	p.G844*		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	844					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.G844*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CTGGGGTTTCCCCCCGGCTGA	0.572																																																1	Substitution - Nonsense(1)	kidney(1)											59	54	56					5																	149240511		2203	4300	6503	SO:0001587	stop_gained	5145				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2530G>T	5.37:g.149240511C>A	ENSP00000255266:p.Gly844*		Q0P638	Nonsense_Mutation	SNP	ENST00000255266.5	37	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	37	6.052914	0.97241	.	.	ENSG00000132915	ENST00000255266	.	.	.	4.78	3.92	0.45320	.	1.992370	0.02207	N	0.062844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.3187	0.37950	0.0:0.8995:0.0:0.1005	.	.	.	.	X	844	.	ENSP00000255266:G844X	G	-	1	0	PDE6A	149220704	0.127000	0.22367	0.006000	0.13384	0.019000	0.09904	1.860000	0.39428	1.137000	0.42214	0.561000	0.74099	GGA		0.572	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			A	149240511	C	A	149240511	4	1	425	1	0	0	0	0	0	1	0	0	11647	632	22	4	56	4	PDE6A	5	149240511	Nonsense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08	117149940	149240511	31674749	23	23244											
TNXB	7148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	32065169	32065169	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr6:32065169C>T	ENST00000479795.1	-	3	601	c.461G>A	c.(460-462)tGc>tAc	p.C154Y	TNXB_ENST00000375244.3_Missense_Mutation_p.C154Y|TNXB_ENST00000375247.2_Missense_Mutation_p.C154Y			P22105	TENX_HUMAN	tenascin XB	154					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)	p.C154Y(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGAACAGGTGCAGCGGCTCAG	0.627																																																2	Substitution - Missense(2)	kidney(2)											43	46	45					6																	32065169		2096	4225	6321	SO:0001583	missense	7148			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	ENST00000479795.1:c.461G>A	6.37:g.32065169C>T	ENSP00000418248:p.Cys154Tyr		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37		.	.	.	.	.	.	.	.	.	.	C	17.86	3.492603	0.64074	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.66099	4.02;4.02;-0.19	4.41	4.41	0.53225	.	0.000000	0.52532	D	0.000069	T	0.75729	0.3889	M	0.84082	2.675	0.39383	D	0.96628	D	0.76494	0.999	D	0.85130	0.997	T	0.80500	-0.1355	10	0.87932	D	0	.	14.0336	0.64632	0.0:1.0:0.0:0.0	.	154	P22105-3	.	Y	154	ENSP00000364393:C154Y;ENSP00000364396:C154Y;ENSP00000418248:C154Y	ENSP00000364393:C154Y	C	-	2	0	TNXB	32173147	.	.	0.997000	0.53966	0.920000	0.55202	.	.	2.254000	0.74563	0.655000	0.94253	TGC		0.627	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		T	32065169	C	T	32065169	3	4	425	1	0	0	0	0	1	0	0	0	16351	710	25	2	14420	2	TNXB	6	32065169	Missense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08		32065169	139049898	24	23245											
MRPS18A	55168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43642986	43642986	+	Silent	SNP	A	A	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr6:43642986A>T	ENST00000372133.3	-	5	410	c.399T>A	c.(397-399)ccT>ccA	p.P133P	MRPS18A_ENST00000372116.1_Intron	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	133					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.P133P(1)		kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			CAGGAAGCCGAGGCCTGTGAT	0.562																																																1	Substitution - coding silent(1)	kidney(1)											112	106	108					6																	43642986		2203	4300	6503	SO:0001819	synonymous_variant	55168			AB049952	CCDS4906.1, CCDS55006.1	6p21.3	2012-09-13			ENSG00000096080	ENSG00000096080		"Mitochondrial ribosomal proteins / small subunits"	14515	protein-coding gene	gene with protein product		611981				11279123, 11543634	Standard	NM_018135		Approved	FLJ10548, MRPS18-3	uc003ovy.2	Q9NVS2	OTTHUMG00000014750	ENST00000372133.3:c.399T>A	6.37:g.43642986A>T			A6XND3|Q5QPA4	Silent	SNP	ENST00000372133.3	37	CCDS4906.1																																																																																				0.562	MRPS18A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040697.1	NM_018135		T	43642986	A	T	43642986	2	4	425	1	0	0	0	0	0	0	0	1	9830	291	11	5		5	MRPS18A	6	43642986	Silent	SNP	A	TCGA-BP-5175-01A-01D-1429-08	11577817	43642986	127472081	25	23246											
ANKRD6	22881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90338835	90338835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr6:90338835delC	ENST00000522441.1	+	15	2131	c.1490delC	c.(1489-1491)tccfs	p.S497fs	ANKRD6_ENST00000369408.5_Frame_Shift_Del_p.S462fs|ANKRD6_ENST00000447838.2_Frame_Shift_Del_p.S497fs|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000339746.4_Frame_Shift_Del_p.S497fs|ANKRD6_ENST00000520793.1_Frame_Shift_Del_p.S438fs	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	497					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TTTAAGATATCCTTGGTGGAT	0.358																																																0													55	54	55					6																	90338835		1803	4072	5875	SO:0001589	frameshift_variant	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1490delC	6.37:g.90338835delC	ENSP00000430985:p.Ser497fs		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Frame_Shift_Del	DEL	ENST00000522441.1	37	CCDS56441.1																																																																																				0.358	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			-	90338835	C	-	90338835	7	5	425	1	0	1	0	1	0	0	0	0	685	855	30	0	1544	0	ANKRD6	6	90338835	Frame_Shift_Del	DEL	C	TCGA-BP-5175-01A-01D-1429-08	46695849	90338835	80776232	26	23247											
RUNX1T1	862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	92982925	92982925	+	Silent	SNP	G	G	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr8:92982925G>A	ENST00000523629.1	-	11	1954	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D	RUNX1T1_ENST00000265814.3_Silent_p.D500D|RUNX1T1_ENST00000436581.2_Silent_p.D511D|RUNX1T1_ENST00000518844.1_Silent_p.D473D|RUNX1T1_ENST00000396218.1_Silent_p.D473D|RUNX1T1_ENST00000422361.2_Silent_p.D463D|RUNX1T1_ENST00000360348.2_Silent_p.D463D|RUNX1T1_ENST00000520724.1_Silent_p.D463D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	500					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D511D(1)|p.D500D(1)|p.D463D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGCCAGTGCGTCCTCCGCCG	0.547																																																3	Substitution - coding silent(3)	kidney(3)											66	59	61					8																	92982925		2203	4300	6503	SO:0001819	synonymous_variant	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1500C>T	8.37:g.92982925G>A			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																				0.547	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		A	92982925	G	A	92982925	2	1	425	1	0	0	0	0	0	0	0	1	13753	1136	40	1		1	RUNX1T1	8	92982925	Silent	SNP	G	TCGA-BP-5175-01A-01D-1429-08		92982925	53381097	27	23248											
SYT15	83849	broad.mit.edu;hgsc.bcm.edu	37	10	46968694	46968694	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr10:46968694G>A	ENST00000374321.4	-	3	308	c.242C>T	c.(241-243)cCa>cTa	p.P81L	SYT15_ENST00000503753.1_Missense_Mutation_p.P81L|SYT15_ENST00000374323.4_Missense_Mutation_p.P134L|SYT15_ENST00000374325.3_Missense_Mutation_p.P81L|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P81L(2)|p.P133L(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TTGAAGGGTTGGGGGCACCAC	0.632																																					Ovarian(57;1152 1428 19651 37745)											3	Substitution - Missense(3)	kidney(3)											66	78	74					10																	46968694		2157	4258	6415	SO:0001583	missense	83849			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.242C>T	10.37:g.46968694G>A	ENSP00000363441:p.Pro81Leu		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.134169	0.77662	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374323;ENST00000374321	T;T;T;T	0.21191	2.02;2.02;2.39;2.37	4.38	4.38	0.52667	.	0.068413	0.64402	D	0.000020	T	0.34745	0.0908	M	0.74258	2.255	0.58432	D	0.999999	P;D	0.58620	0.926;0.983	P;P	0.54544	0.454;0.755	T	0.18085	-1.0348	10	0.08837	T	0.75	.	14.8135	0.70013	0.0:0.0:1.0:0.0	.	81;81	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	L	81;81;81;134;81	ENSP00000363445:P81L;ENSP00000427607:P81L;ENSP00000363443:P134L;ENSP00000363441:P81L	ENSP00000363441:P81L	P	-	2	0	SYT15	46388700	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	2.691000	0.47010	2.456000	0.83038	0.561000	0.74099	CCA		0.632	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		A	46968694	G	A	46968694	3	1	425	1	0	0	0	0	1	0	0	0	15476	1348	47	2	1101	2	SYT15	10	46968694	Missense_Mutation	SNP	G	TCGA-BP-5175-01A-01D-1429-08		46968694	88566053	28	23249											
KNDC1	85442	broad.mit.edu;hgsc.bcm.edu	37	10	135012532	135012532	+	Silent	SNP	G	G	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr10:135012532G>A	ENST00000304613.3	+	14	2541	c.2520G>A	c.(2518-2520)ccG>ccA	p.P840P	KNDC1_ENST00000368572.2_Silent_p.P840P|KNDC1_ENST00000368571.2_Silent_p.P775P			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	840	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.P840P(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCGAGCGCCCGGGCCAGGAGC	0.766																																																1	Substitution - coding silent(1)	kidney(1)											4	6	5					10																	135012532		1953	3892	5845	SO:0001819	synonymous_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2520G>A	10.37:g.135012532G>A			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																				0.766	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		A	135012532	G	A	135012532	2	1	425	1	0	0	0	0	0	0	0	1	8428	1103	39	1		1	KNDC1	10	135012532	Silent	SNP	G	TCGA-BP-5175-01A-01D-1429-08	88043838	135012532	522215	29	23250											
MUC2	4583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1078457	1078457	+	Splice_Site	SNP	G	G	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr11:1078457G>A	ENST00000441003.2	+	6	692	c.665G>A	c.(664-666)cGc>cAc	p.R222H	MUC2_ENST00000359061.5_Splice_Site_p.R222H	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	222	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.R222H(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTCCCCAGCGCGCCGAGTGT	0.697																																																2	Substitution - Missense(2)	kidney(2)											15	21	19					11																	1078457		2021	4166	6187	SO:0001630	splice_region_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.664-1G>A	11.37:g.1078457G>A			Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	G	12.89	2.072269	0.36566	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.77098	-1.07;-1.07	3.7	2.72	0.32119	.	1.098560	0.07055	N	0.832595	T	0.78953	0.4365	L	0.52759	1.655	0.25922	N	0.983105	P	0.44816	0.844	P	0.48738	0.588	T	0.66948	-0.5794	10	0.29301	T	0.29	.	12.3647	0.55222	0.0:0.0:0.8311:0.1689	.	222	E7EUV1	.	H	222	ENSP00000415183:R222H;ENSP00000351956:R222H	ENSP00000351956:R222H	R	+	2	0	MUC2	1068457	0.958000	0.32768	0.980000	0.43619	0.483000	0.33249	1.698000	0.37794	1.908000	0.55244	0.561000	0.74099	CGC		0.697	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	Missense_Mutation	A	1078457	G	A	1078457	5	1	425	1	0	0	0	0	0	0	1	0	9977	1101	38	1	687	1	MUC2	11	1078457	Splice_Site	SNP	G	TCGA-BP-5175-01A-01D-1429-08		1078457	133928059	30	23251											
WT1	7490	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32417899	32417899	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr11:32417899T>A	ENST00000379079.2	-	7	790	c.517A>T	c.(517-519)Acc>Tcc	p.T173S	WT1_ENST00000332351.3_Missense_Mutation_p.T385S|WT1_ENST00000448076.3_Missense_Mutation_p.T385S|WT1_ENST00000530998.1_Missense_Mutation_p.T156S	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	317					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L310fs*63(1)|p.T173S(1)|p.P308fs*67(1)|p.T317S(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TTCTCACTGGTCTCAGATGCC	0.522			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	4	Substitution - Missense(2)|Complex - frameshift(2)	kidney(3)|haematopoietic_and_lymphoid_tissue(1)											129	111	117					11																	32417899		2202	4299	6501	SO:0001583	missense	7490	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.517A>T	11.37:g.32417899T>A	ENSP00000368370:p.Thr173Ser		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.24|14.24	2.475648|2.475648	0.44044|0.44044	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	.|D;D;D;D;D	.|0.83673	.|-1.75;-1.75;-1.75;-1.75;-1.75	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Wilm&apos (1);s tumour protein, N-terminal (1);	.|0.075116	.|0.50627	.|U	.|0.000101	T|T	0.70979|0.70979	0.3286|0.3286	N|N	0.26042|0.26042	0.785|0.785	0.40926|0.40926	D|D	0.984359|0.984359	.|B;B;B;B;B	.|0.13145	.|0.004;0.003;0.007;0.002;0.002	.|B;B;B;B;B	.|0.19148	.|0.019;0.023;0.024;0.01;0.012	T|T	0.65393|0.65393	-0.6179|-0.6179	5|10	.|0.18710	.|T	.|0.47	.|.	8.9722|8.9722	0.35912|0.35912	0.0:0.1365:0.0:0.8635|0.0:0.1365:0.0:0.8635	.|.	.|373;317;390;156;173	.|P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.|.;WT1_HUMAN;.;.;.	V|S	75|173;385;156;368;385	.|ENSP00000368370:T173S;ENSP00000331327:T385S;ENSP00000435307:T156S;ENSP00000415516:T368S;ENSP00000413452:T385S	.|ENSP00000331327:T385S	D|T	-|-	2|1	0|0	WT1|WT1	32374475|32374475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.170000|2.170000	0.42443|0.42443	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAC|ACC		0.522	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		A	32417899	T	A	32417899	3	1	425	1	0	0	0	0	1	0	0	0	17413	1667	58	5	416	5	WT1	11	32417899	Missense_Mutation	SNP	T	TCGA-BP-5175-01A-01D-1429-08	31339442	32417899	102588617	31	23252											
MAPK8IP1	9479	broad.mit.edu;hgsc.bcm.edu	37	11	45925587	45925587	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr11:45925587C>A	ENST00000241014.2	+	7	1711	c.1541C>A	c.(1540-1542)cCt>cAt	p.P514H	RP11-618K13.2_ENST00000533218.1_RNA|MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.P504H	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	514	Interaction with VRK2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.P514H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GTGGATGACCCTCTGCTAGTG	0.577																																																1	Substitution - Missense(1)	kidney(1)											126	112	117					11																	45925587		2203	4299	6502	SO:0001583	missense	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1541C>A	11.37:g.45925587C>A	ENSP00000241014:p.Pro514His		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146342	0.94603	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.49139	0.79;0.79	5.25	5.25	0.73442	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69525	-0.5122	10	0.87932	D	0	-17.4084	19.2152	0.93774	0.0:1.0:0.0:0.0	.	514	Q9UQF2	JIP1_HUMAN	H	514;504	ENSP00000241014:P514H;ENSP00000378991:P504H	ENSP00000241014:P514H	P	+	2	0	MAPK8IP1	45882163	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	7.776000	0.85560	2.616000	0.88540	0.561000	0.74099	CCT		0.577	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		A	45925587	C	A	45925587	3	1	425	1	0	0	0	0	1	0	0	0	9286	681	24	4	1567	4	MAPK8IP1	11	45925587	Missense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08	13507688	45925587	89080929	32	23253											
SSRP1	6749	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57099909	57099909	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr11:57099909T>G	ENST00000278412.2	-	7	1086	c.820A>C	c.(820-822)Atc>Ctc	p.I274L		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	274					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.I274L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AAGAGGAGGATCAGGAAGTGG	0.488																																					Colon(89;1000 1340 6884 23013 41819)											1	Substitution - Missense(1)	kidney(1)											221	180	193					11																	57099909		2201	4296	6497	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.820A>C	11.37:g.57099909T>G	ENSP00000278412:p.Ile274Leu		Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	T	31	5.058241	0.93846	.	.	ENSG00000149136	ENST00000278412;ENST00000526696	T;T	0.42900	0.96;0.96	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	L	0.46157	1.445	0.58432	D	0.999998	P	0.44946	0.846	P	0.55667	0.781	T	0.51140	-0.8743	10	0.49607	T	0.09	-21.3708	15.4767	0.75485	0.0:0.0:0.0:1.0	.	274	Q08945	SSRP1_HUMAN	L	274;177	ENSP00000278412:I274L;ENSP00000431154:I177L	ENSP00000278412:I274L	I	-	1	0	SSRP1	56856485	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.396000	0.79891	2.319000	0.78375	0.533000	0.62120	ATC		0.488	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		G	57099909	T	G	57099909	3	3	425	1	0	0	0	0	1	0	0	0	15199	1435	50	5	1353	5	SSRP1	11	57099909	Missense_Mutation	SNP	T	TCGA-BP-5175-01A-01D-1429-08	11174322	57099909	77906607	33	23254											
MS4A10	341116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60561455	60561455	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr11:60561455G>A	ENST00000308287.1	+	5	467	c.371G>A	c.(370-372)tGc>tAc	p.C124Y		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	124						integral component of membrane (GO:0016021)		p.C124Y(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						AAGATGTTGTGCCTGATGACA	0.512																																																1	Substitution - Missense(1)	kidney(1)											144	128	133					11																	60561455		2203	4299	6502	SO:0001583	missense	341116			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.371G>A	11.37:g.60561455G>A	ENSP00000311862:p.Cys124Tyr		B2RP45|Q96PG3	Missense_Mutation	SNP	ENST00000308287.1	37	CCDS7992.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209239	0.39003	.	.	ENSG00000172689	ENST00000308287	T	0.02280	4.36	4.87	3.9	0.45041	.	0.000000	0.41938	D	0.000784	T	0.08179	0.0204	L	0.51422	1.61	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03268	-1.1054	10	0.54805	T	0.06	-13.3821	11.9582	0.52993	0.0:0.1922:0.8078:0.0	.	124	Q96PG2	M4A10_HUMAN	Y	124	ENSP00000311862:C124Y	ENSP00000311862:C124Y	C	+	2	0	MS4A10	60318031	0.006000	0.16342	0.284000	0.24805	0.004000	0.04260	1.324000	0.33712	2.246000	0.74042	0.655000	0.94253	TGC		0.512	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395619.1	NM_206893		A	60561455	G	A	60561455	3	1	425	1	0	0	0	0	1	0	0	0	9857	1319	46	2	385	2	MS4A10	11	60561455	Missense_Mutation	SNP	G	TCGA-BP-5175-01A-01D-1429-08	3461546	60561455	74445061	34	23255											
SLC22A8	9376	hgsc.bcm.edu;ucsc.edu	37	11	62782211	62782211	+	Frame_Shift_Del	DEL	G	G	-	rs370233107		TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr11:62782211delG	ENST00000336232.2	-	2	355	c.220delC	c.(220-222)ctcfs	p.L74fs	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Frame_Shift_Del_p.L74fs|SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000311438.8_Frame_Shift_Del_p.L74fs	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	74					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACAAAACGGAGGCACCTCTCA	0.637																																																0													175	181	179					11																	62782211		2201	4298	6499	SO:0001589	frameshift_variant	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.220delC	11.37:g.62782211delG	ENSP00000337335:p.Leu74fs		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Frame_Shift_Del	DEL	ENST00000336232.2	37	CCDS8042.1																																																																																				0.637	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		-	62782211	G	-	62782211	7	5	425	1	0	1	0	1	0	0	0	0	14466	1000	35	0	1448	0	SLC22A8	11	62782211	Frame_Shift_Del	DEL	G	TCGA-BP-5175-01A-01D-1429-08	2220756	62782211	72224305	35	23256											
PCNXL3	399909	broad.mit.edu;hgsc.bcm.edu	37	11	65402821	65402821	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr11:65402821C>T	ENST00000355703.3	+	31	5625	c.5086C>T	c.(5086-5088)Ccc>Tcc	p.P1696S	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1696						integral component of membrane (GO:0016021)		p.P1696S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CAGCAACACGCCCTCCCTGCT	0.617																																																1	Substitution - Missense(1)	kidney(1)											23	24	23					11																	65402821		2082	4195	6277	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5086C>T	11.37:g.65402821C>T	ENSP00000347931:p.Pro1696Ser		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946359	0.73672	.	.	ENSG00000197136	ENST00000355703	T	0.51817	0.69	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.90252	3.1	0.49130	D	0.999751	P;D	0.58268	0.754;0.982	P;P	0.57720	0.493;0.826	T	0.77112	-0.2708	10	0.66056	D	0.02	.	13.7058	0.62639	0.0:1.0:0.0:0.0	.	583;1696	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	S	1696	ENSP00000347931:P1696S	ENSP00000347931:P1696S	P	+	1	0	PCNXL3	65159397	1.000000	0.71417	0.972000	0.41901	0.738000	0.42128	5.388000	0.66249	2.097000	0.63578	0.462000	0.41574	CCC		0.617	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		T	65402821	C	T	65402821	3	4	425	1	0	0	0	0	1	0	0	0	11595	739	26	2	5208	2	PCNXL3	11	65402821	Missense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08	2620610	65402821	69603695	36	23257											
OR6C3	254786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55725604	55725604	+	Silent	SNP	G	G	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr12:55725604G>T	ENST00000379667.1	+	1	120	c.120G>T	c.(118-120)ctG>ctT	p.L40L		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	40					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)	p.L40L(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CTGGAAACCTGACTATCATCA	0.393																																																1	Substitution - coding silent(1)	kidney(1)											154	168	163					12																	55725604		2203	4300	6503	SO:0001819	synonymous_variant	254786			AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.120G>T	12.37:g.55725604G>T				Silent	SNP	ENST00000379667.1	37	CCDS31819.1																																																																																				0.393	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			T	55725604	G	T	55725604	2	4	425	1	0	0	0	0	0	0	0	1	11194	1277	45	4		4	OR6C3	12	55725604	Silent	SNP	G	TCGA-BP-5175-01A-01D-1429-08		55725604	78126291	37	23258											
OR5AU1	390445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21623848	21623848	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr14:21623848G>A	ENST00000304418.3	-	1	374	c.337C>T	c.(337-339)Ctc>Ttc	p.L113F		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L113F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CTCTTCAGGAGGGAGTACATG	0.542																																																1	Substitution - Missense(1)	kidney(1)											95	77	83					14																	21623848		2203	4300	6503	SO:0001583	missense	390445			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.337C>T	14.37:g.21623848G>A	ENSP00000302057:p.Leu113Phe		B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.082496	0.00371	.	.	ENSG00000169327	ENST00000304418	T	0.00848	5.62	4.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	N	0.01482	-0.84	0.27768	N	0.943596	B	0.15719	0.014	B	0.10450	0.005	T	0.42085	-0.9472	9	0.02654	T	1	.	4.8526	0.13543	0.3594:0.0:0.6405:0.0	.	113	Q8NGC0	O5AU1_HUMAN	F	113	ENSP00000302057:L113F	ENSP00000302057:L113F	L	-	1	0	OR5AU1	20693688	0.648000	0.27313	1.000000	0.80357	0.257000	0.26127	1.056000	0.30480	1.064000	0.40671	-0.339000	0.08088	CTC		0.542	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			A	21623848	G	A	21623848	3	1	425	1	0	0	0	0	1	0	0	0	11149	1000	35	2	754	2	OR5AU1	14	21623848	Missense_Mutation	SNP	G	TCGA-BP-5175-01A-01D-1429-08		21623848	85725692	38	23259											
MYH7	4625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23894068	23894068	+	Silent	SNP	T	T	C			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr14:23894068T>C	ENST00000355349.3	-	22	2751	c.2589A>G	c.(2587-2589)ctA>ctG	p.L863L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	863					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.L863L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGGACTTCTCTAGCGCCTCTT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											89	84	86					14																	23894068		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2589A>G	14.37:g.23894068T>C			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.567	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		C	23894068	T	C	23894068	2	2	425	1	0	0	0	0	0	0	0	1	10041	1509	53	3		3	MYH7	14	23894068	Silent	SNP	T	TCGA-BP-5175-01A-01D-1429-08	2270220	23894068	83455472	39	23260											
PTGER2	5732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	52782081	52782081	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr14:52782081C>T	ENST00000245457.5	+	1	969	c.815C>T	c.(814-816)aCc>aTc	p.T272I	PTGER2_ENST00000557436.1_Missense_Mutation_p.T17I	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	272					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.T272I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	ATGACCATCACCTTCGCCGTC	0.647																																																1	Substitution - Missense(1)	kidney(1)											45	51	49					14																	52782081		2202	4298	6500	SO:0001583	missense	5732				CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	9594	protein-coding gene	gene with protein product		176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.815C>T	14.37:g.52782081C>T	ENSP00000245457:p.Thr272Ile		D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	C	4.006	-0.001538	0.07819	.	.	ENSG00000125384	ENST00000557436;ENST00000245457	T;T	0.72051	-0.62;-0.62	5.05	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.051159	0.85682	D	0.000000	T	0.46852	0.1414	N	0.13098	0.295	0.35334	D	0.785857	B	0.26147	0.143	B	0.28849	0.095	T	0.48917	-0.8992	10	0.02654	T	1	-31.36	8.073	0.30699	0.0:0.8151:0.0:0.1849	.	272	P43116	PE2R2_HUMAN	I	17;272	ENSP00000450933:T17I;ENSP00000245457:T272I	ENSP00000245457:T272I	T	+	2	0	PTGER2	51851831	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.086000	0.30853	1.276000	0.44395	0.511000	0.50034	ACC		0.647	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			T	52782081	C	T	52782081	3	4	425	1	0	0	0	0	1	0	0	0	12749	507	18	2	817	2	PTGER2	14	52782081	Missense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08	28888013	52782081	54567459	40	23261											
CLEC16A	23274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	11217730	11217730	+	Silent	SNP	C	C	G			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr16:11217730C>G	ENST00000409790.1	+	21	2630	c.2400C>G	c.(2398-2400)cgC>cgG	p.R800R	CLEC16A_ENST00000381822.2_5'Flank|CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Silent_p.R782R	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)|p.R800R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACCACATCCGCTGCATCATCG	0.612																																																2	Whole gene deletion(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)											49	54	52					16																	11217730		2110	4237	6347	SO:0001819	synonymous_variant	23274			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2400C>G	16.37:g.11217730C>G				Silent	SNP	ENST00000409790.1	37	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515943	0.27123	.	.	ENSG00000038532	ENST00000428742	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.74642	0.3743	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72903	-0.4151	4	.	.	.	-23.0326	18.5026	0.90887	0.0:1.0:0.0:0.0	.	.	.	.	G	44	.	.	A	+	2	0	CLEC16A	11125231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.933000	0.56545	2.618000	0.88619	0.655000	0.94253	GCT		0.612	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		G	11217730	C	G	11217730	2	3	425	1	0	0	0	0	0	0	0	1	3502	784	28	4		4	CLEC16A	16	11217730	Silent	SNP	C	TCGA-BP-5175-01A-01D-1429-08		11217730	79137023	41	23262											
NKD1	85407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	50583388	50583388	+	Silent	SNP	C	C	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr16:50583388C>T	ENST00000268459.3	+	3	338	c.114C>T	c.(112-114)atC>atT	p.I38I	NKD1_ENST00000564336.1_3'UTR|RP11-401P9.1_ENST00000569940.2_RNA	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	38					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I38I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGGAGTGGATCGGGAGACAGC	0.692																																																1	Substitution - coding silent(1)	kidney(1)											29	31	30					16																	50583388		2198	4300	6498	SO:0001819	synonymous_variant	85407			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.114C>T	16.37:g.50583388C>T			B2RC39|Q8WZ08	Silent	SNP	ENST00000268459.3	37	CCDS10743.1																																																																																				0.692	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			T	50583388	C	T	50583388	2	4	425	1	0	0	0	0	0	0	0	1	10443	874	31	1		1	NKD1	16	50583388	Silent	SNP	C	TCGA-BP-5175-01A-01D-1429-08	39365658	50583388	39771365	42	23263											
SYNRG	11276	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35946642	35946642	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr17:35946642C>T	ENST00000339208.6	-	4	396	c.256G>A	c.(256-258)Gga>Aga	p.G86R	SYNRG_ENST00000585472.1_Missense_Mutation_p.G85R|SYNRG_ENST00000345615.4_Missense_Mutation_p.G86R|SYNRG_ENST00000346661.4_Missense_Mutation_p.G86R|SYNRG_ENST00000394378.2_Missense_Mutation_p.G86R|SYNRG_ENST00000591288.1_Missense_Mutation_p.G86R|SYNRG_ENST00000502449.2_Missense_Mutation_p.G86R	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	86					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.G86R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCATTGGTCCCATTGGTATT	0.453																																																1	Substitution - Missense(1)	kidney(1)											131	131	131					17																	35946642		2203	4300	6503	SO:0001583	missense	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.256G>A	17.37:g.35946642C>T	ENSP00000343610:p.Gly86Arg		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732900	0.89482	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.74	4.74	0.60224	.	0.112402	0.64402	D	0.000012	T	0.53948	0.1828	M	0.63843	1.955	0.80722	D	1	D;P;P;P;P;D;D	0.89917	1.0;0.846;0.933;0.933;0.933;1.0;1.0	D;P;P;P;P;D;D	0.97110	0.999;0.563;0.563;0.68;0.563;1.0;1.0	T	0.53906	-0.8372	10	0.45353	T	0.12	-1.2399	18.0705	0.89404	0.0:1.0:0.0:0.0	.	86;86;86;86;86;86;86	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	R	86	ENSP00000005279:G86R;ENSP00000343610:G86R;ENSP00000315722:G86R;ENSP00000424893:G86R;ENSP00000377903:G86R	ENSP00000343610:G86R	G	-	1	0	SYNRG	33020755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.382000	0.79729	2.316000	0.78162	0.591000	0.81541	GGA		0.453	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		T	35946642	C	T	35946642	3	4	425	1	0	0	0	0	1	0	0	0	15465	632	22	2	3837	2	SYNRG	17	35946642	Missense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08		35946642	45248568	43	23264											
ITGA3	3675	broad.mit.edu	37	17	48148756	48148756	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr17:48148756T>C	ENST00000320031.8	+	6	1163	c.833T>C	c.(832-834)aTg>aCg	p.M278T	ITGA3_ENST00000007722.7_Missense_Mutation_p.M278T|ITGA3_ENST00000544892.1_Missense_Mutation_p.M53T	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	278					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)	p.M278T(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CACCGACATATGGGCGCGGTG	0.612																																																2	Substitution - Missense(2)	kidney(2)											51	49	50					17																	48148756		2203	4300	6503	SO:0001583	missense	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.833T>C	17.37:g.48148756T>C	ENSP00000315190:p.Met278Thr		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	T	3.229	-0.157785	0.06544	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.10573	2.86;2.86;2.86	5.59	3.24	0.37175	.	0.821148	0.11530	N	0.554752	T	0.02380	0.0073	N	0.00637	-1.305	0.26866	N	0.96784	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42699	-0.9436	10	0.17369	T	0.5	.	0.3521	0.00351	0.2225:0.1478:0.2315:0.3982	.	278;278	P26006-1;P26006	.;ITA3_HUMAN	T	53;278;264;278	ENSP00000446133:M53T;ENSP00000007722:M278T;ENSP00000315190:M278T	ENSP00000007722:M278T	M	+	2	0	ITGA3	45503755	0.037000	0.19845	0.911000	0.35937	0.540000	0.34992	0.708000	0.25719	0.921000	0.36994	0.533000	0.62120	ATG		0.612	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		C	48148756	T	C	48148756	3	2	425	1	0	0	0	0	1	0	0	0	7879	1464	51	3	855	3	ITGA3	17	48148756	Missense_Mutation	SNP	T	TCGA-BP-5175-01A-01D-1429-08	12202114	48148756	33046454	44	23265											
CACNG5	27091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	64880873	64880873	+	Intron	SNP	A	A	G			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr17:64880873A>G	ENST00000533854.1	+	5	807				CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000169565.3_Missense_Mutation_p.Q222R			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.Q222R(1)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GACATTCCACAACCATTTTGG	0.592																																																1	Substitution - Missense(1)	kidney(1)											112	100	104					17																	64880873		2203	4300	6503	SO:0001627	intron_variant	27091			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.570+95A>G	17.37:g.64880873A>G			A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	A	8.861	0.946981	0.18356	.	.	ENSG00000075429	ENST00000169565	T	0.50548	0.74	2.49	-1.39	0.08997	.	0.593291	0.17569	N	0.169547	T	0.28896	0.0717	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15037	-1.0451	6	.	.	.	.	2.9214	0.05770	0.4482:0.2455:0.3062:0.0	.	.	.	.	R	222	ENSP00000169565:Q222R	.	Q	+	2	0	CACNG5	62311335	0.288000	0.24324	0.000000	0.03702	0.004000	0.04260	0.940000	0.28992	-0.353000	0.08224	-0.487000	0.04747	CAA		0.592	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		G	64880873	A	G	64880873	1	3	425	0	1	0	0	0	0	0	0	0	2562	130	5	3		3	CACNG5	17	64880873	Intron	SNP	A	TCGA-BP-5175-01A-01D-1429-08	16732117	64880873	16314337	45	23266											
HMHA1	23526	hgsc.bcm.edu	37	19	1067422	1067422	+	Silent	SNP	A	A	G	rs76139012	byFrequency	TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr19:1067422A>G	ENST00000313093.2	+	1	249	c.18A>G	c.(16-18)aaA>aaG	p.K6K	HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000586866.1_5'Flank|HMHA1_ENST00000590214.1_Silent_p.K6K|HMHA1_ENST00000539243.2_Intron	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	6					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGAAGAAACGAGAGCTCA	0.697													A|||	71	0.0141773	0.0023	0.0274	5008	,	,		10370	0.0		0.0378	False		,,,				2504	0.0112															0								A		30,4338		0,30,2154	12	13	13		18	-0.1	1	19	dbSNP_131	13	348,8198		6,336,3931	no	coding-synonymous	HMHA1	NM_012292.2		6,366,6085	GG,GA,AA		4.0721,0.6868,2.9271		6/1137	1067422	378,12536	2184	4273	6457	SO:0001819	synonymous_variant	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.18A>G	19.37:g.1067422A>G			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	CCDS32863.1																																																																																				0.697	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			G	1067422	A	G	1067422	2	3	425	1	0	0	0	0	0	0	0	1	7242	40	2	3		3	HMHA1	19	1067422	Silent	SNP	A	TCGA-BP-5175-01A-01D-1429-08		1067422	58061561	46	23267											
ZNF347	84671	broad.mit.edu;ucsc.edu	37	19	53656986	53656986	+	Splice_Site	SNP	C	C	G			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr19:53656986C>G	ENST00000334197.7	-	2	83	c.15G>C	c.(13-15)caG>caC	p.Q5H	ZNF347_ENST00000452676.2_Splice_Site_p.Q5H|ZNF347_ENST00000601469.2_Splice_Site_p.Q5H|ZNF347_ENST00000601804.1_5'UTR	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q5H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ATTACCTTACCTGGGTGAGAG	0.408																																					Melanoma(64;205 1597 17324 45721)											1	Substitution - Missense(1)	kidney(1)											203	182	189					19																	53656986		2203	4300	6503	SO:0001630	splice_region_variant	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.15+1G>C	19.37:g.53656986C>G			B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109169	0.20714	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.01059	5.39;5.39	1.83	1.83	0.25207	Krueppel-associated box (1);	.	.	.	.	T	0.04003	0.0112	M	0.79258	2.445	0.09310	N	1	D;P	0.65815	0.995;0.939	P;B	0.57204	0.815;0.36	T	0.31724	-0.9933	8	.	.	.	.	7.1562	0.25639	0.0:1.0:0.0:0.0	.	5;5	G5E9N4;Q96SE7	.;ZN347_HUMAN	H	5	ENSP00000334146:Q5H;ENSP00000405218:Q5H	.	Q	-	3	2	ZNF347	58348798	0.271000	0.24162	0.188000	0.23233	0.020000	0.10135	2.184000	0.42575	1.357000	0.45904	0.491000	0.48974	CAG		0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	Missense_Mutation	G	53656986	C	G	53656986	5	3	425	1	0	0	0	0	0	0	1	0	17866	695	24	4	2523	4	ZNF347	19	53656986	Splice_Site	SNP	C	TCGA-BP-5175-01A-01D-1429-08	52589564	53656986	5471997	47	23268											
ACSS1	84532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	25011448	25011448	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr20:25011448G>A	ENST00000323482.4	-	3	657	c.578C>T	c.(577-579)aCa>aTa	p.T193I	ACSS1_ENST00000432802.2_Missense_Mutation_p.T193I|ACSS1_ENST00000537502.1_Missense_Mutation_p.T110I|ACSS1_ENST00000542618.1_Missense_Mutation_p.T72I	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	193					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.T193I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAAGATGACTGTGTGGACAGC	0.597																																																1	Substitution - Missense(1)	kidney(1)											111	89	97					20																	25011448		2203	4300	6503	SO:0001583	missense	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.578C>T	20.37:g.25011448G>A	ENSP00000316924:p.Thr193Ile		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543470	0.65198	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.95	2.85	0.33270	AMP-dependent synthetase/ligase (1);	0.336722	0.33854	N	0.004488	T	0.54615	0.1869	L	0.43152	1.355	0.58432	D	0.999996	D;P;P;P	0.76494	0.999;0.839;0.867;0.843	D;P;P;P	0.71184	0.972;0.642;0.756;0.702	T	0.56032	-0.8046	10	0.87932	D	0	-38.6297	14.2405	0.65954	0.0:0.0:0.6103:0.3897	.	193;193;193;110	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	I	193;193;110;193;72	ENSP00000316924:T193I;ENSP00000439304:T110I;ENSP00000388793:T193I;ENSP00000437657:T72I	ENSP00000316924:T193I	T	-	2	0	ACSS1	24959448	0.971000	0.33674	0.394000	0.26270	0.918000	0.54935	1.648000	0.37271	0.364000	0.24374	0.655000	0.94253	ACA		0.597	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		A	25011448	G	A	25011448	3	1	425	1	0	0	0	0	1	0	0	0	188	1377	48	2	1539	2	ACSS1	20	25011448	Missense_Mutation	SNP	G	TCGA-BP-5175-01A-01D-1429-08		25011448	38014072	48	23269											
MYH7B	57644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33575921	33575921	+	Silent	SNP	C	C	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr20:33575921C>A	ENST00000262873.7	+	17	1661	c.1569C>A	c.(1567-1569)atC>atA	p.I523I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	481	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I523M(1)|p.I523I(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCTGTGCATCAACTTCACCA	0.562																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	breast(1)|kidney(1)											84	85	85					20																	33575921		2203	4300	6503	SO:0001819	synonymous_variant	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1569C>A	20.37:g.33575921C>A			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	CCDS42869.1																																																																																				0.562	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		A	33575921	C	A	33575921	2	1	425	1	0	0	0	0	0	0	0	1	10042	816	29	4		4	MYH7B	20	33575921	Silent	SNP	C	TCGA-BP-5175-01A-01D-1429-08	8564473	33575921	29449599	49	23270											
EDN3	1908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	57876745	57876745	+	Silent	SNP	C	C	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr20:57876745C>T	ENST00000337938.2	+	2	719	c.333C>T	c.(331-333)tgC>tgT	p.C111C	EDN3_ENST00000395654.3_Silent_p.C111C|EDN3_ENST00000311585.7_Silent_p.C111C|EDN3_ENST00000371025.3_Silent_p.C111C|EDN3_ENST00000371028.2_Silent_p.C111C	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	111					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.C111C(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TCTACTATTGCCACCTGGACA	0.607																																																2	Substitution - coding silent(2)	kidney(2)											163	126	138					20																	57876745		2203	4300	6503	SO:0001819	synonymous_variant	1908			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"Endogenous ligands"	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.333C>T	20.37:g.57876745C>T			E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP	ENST00000337938.2	37	CCDS13477.1																																																																																				0.607	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		T	57876745	C	T	57876745	2	4	425	1	0	0	0	0	0	0	0	1	4920	747	26	2		2	EDN3	20	57876745	Silent	SNP	C	TCGA-BP-5175-01A-01D-1429-08	24300824	57876745	5148775	50	23271											
MED15	51586	broad.mit.edu	37	22	20920819	20920819	+	Silent	SNP	G	G	A	rs535773989|rs368721341	byFrequency	TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr22:20920819G>A	ENST00000263205.7	+	7	825	c.756G>A	c.(754-756)caG>caA	p.Q252Q	MED15_ENST00000292733.7_Silent_p.Q252Q|MED15_ENST00000406969.1_Silent_p.Q226Q|MED15_ENST00000382974.2_Silent_p.Q181Q|MED15_ENST00000542773.1_Silent_p.Q57Q|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000425759.2_Silent_p.Q141Q|MED15_ENST00000541476.1_Silent_p.Q226Q	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	252	Poly-Gln.			Missing (in Ref. 3; BAB85034). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q252Q(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			agcaacagcagcagcagcagc	0.597																																																2	Substitution - coding silent(2)	kidney(2)						-	,	0,4240		0,0,2120	20	26	24		756,756	0.4	0.9	22		24	1,8273		0,1,4136	no	coding-synonymous,coding-synonymous	MED15	NM_001003891.1,NM_015889.3	,	0,1,6256	AA,AG,GG		0.0121,0.0,0.0080	,	252/789,252/749	20920819	1,12513	2120	4137	6257	SO:0001819	synonymous_variant	51586			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.756G>A	22.37:g.20920819G>A			D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	4.642	0.119392	0.08881	0.0	1.21E-4	ENSG00000099917	ENST00000423862	.	.	.	1.57	0.371	0.16168	.	.	.	.	.	T	0.45558	0.1348	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	.	4.2386	0.10637	0.2665:0.0:0.7335:0.0	.	.	.	.	T	193	.	.	A	+	1	0	MED15	19250819	0.943000	0.32029	0.949000	0.38748	0.705000	0.40729	0.021000	0.13489	-0.062000	0.13088	0.550000	0.68814	GCA		0.597	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		A	20920819	G	A	20920819	2	1	425	1	0	0	0	0	0	0	0	1	9435	962	34	2		2	MED15	22	20920819	Silent	SNP	G	TCGA-BP-5175-01A-01D-1429-08		20920819	30383747	51	23272											
BRD1	23774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50187702	50187702	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr22:50187702C>A	ENST00000216267.8	-	6	2825	c.2339G>T	c.(2338-2340)gGg>gTg	p.G780V	BRD1_ENST00000542442.1_Missense_Mutation_p.G468V|BRD1_ENST00000404760.1_Missense_Mutation_p.G780V|BRD1_ENST00000457780.2_Missense_Mutation_p.G780V|BRD1_ENST00000342989.5_Missense_Mutation_p.G375V|BRD1_ENST00000404034.1_Missense_Mutation_p.G780V	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	780					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.G780V(1)|p.G375V(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGCCTCCGGCCCCAGCGCAGC	0.662																																																2	Substitution - Missense(2)	kidney(2)											32	36	34					22																	50187702		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2339G>T	22.37:g.50187702C>A	ENSP00000216267:p.Gly780Val		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123765	0.20959	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.29397	2.55;2.55;2.62;2.4;1.57;2.04	5.4	1.76	0.24704	.	0.904569	0.09766	N	0.758684	T	0.20373	0.0490	L	0.32530	0.975	0.09310	N	0.999998	B;B;B;B	0.18610	0.012;0.029;0.02;0.02	B;B;B;B	0.12837	0.006;0.006;0.006;0.008	T	0.27400	-1.0075	10	0.35671	T	0.21	.	3.9573	0.09395	0.0:0.1847:0.4516:0.3637	.	780;375;780;780	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	V	780;780;780;780;468;375;240	ENSP00000216267:G780V;ENSP00000384076:G780V;ENSP00000385858:G780V;ENSP00000410042:G780V;ENSP00000437514:G468V;ENSP00000345886:G375V	ENSP00000216267:G780V	G	-	2	0	BRD1	48573706	0.805000	0.28982	0.435000	0.26784	0.374000	0.29953	1.078000	0.30754	0.180000	0.19960	0.655000	0.94253	GGG		0.662	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		A	50187702	C	A	50187702	3	1	425	1	0	0	0	0	1	0	0	0	1503	623	22	4	865	4	BRD1	22	50187702	Missense_Mutation	SNP	C	TCGA-BP-5175-01A-01D-1429-08	29266883	50187702	1116864	52	23273											
PLXNB2	23654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50724518	50724518	+	Silent	SNP	G	G	T			TCGA-BP-5175-01A-01D-1429-08	TCGA-BP-5175-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	30e58a1e-e7db-43ce-a7e8-a1fd21f4438e	7859fd3d-1bb7-4c19-ae09-58763723a5b9	g.chr22:50724518G>T	ENST00000449103.1	-	10	2027	c.1887C>A	c.(1885-1887)tcC>tcA	p.S629S	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Silent_p.S629S			O15031	PLXB2_HUMAN	plexin B2	629					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.S672S(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCACGCAGGAGATGCACC	0.667																																																1	Substitution - coding silent(1)	kidney(1)											43	52	49					22																	50724518		2104	4191	6295	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1887C>A	22.37:g.50724518G>T			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1																																																																																				0.667	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		T	50724518	G	T	50724518	2	4	425	1	0	0	0	0	0	0	0	1	12126	987	35	4		4	PLXNB2	22	50724518	Silent	SNP	G	TCGA-BP-5175-01A-01D-1429-08	536816	50724518	580048	53	23274											
PER3	8863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	7886603	7886603	+	Nonsense_Mutation	SNP	C	C	A	rs370974877		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:7886603C>A	ENST00000361923.2	+	16	2172	c.1997C>A	c.(1996-1998)tCg>tAg	p.S666*	PER3_ENST00000377532.3_Nonsense_Mutation_p.S674*|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	666	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.S666*(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTGACCTCGGAAGAATTT	0.483																																																1	Substitution - Nonsense(1)	kidney(1)											60	57	58					1																	7886603		2203	4300	6503	SO:0001587	stop_gained	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1997C>A	1.37:g.7886603C>A	ENSP00000355031:p.Ser666*		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Nonsense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	38	7.131528	0.98085	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	.	.	.	4.62	1.67	0.24075	.	0.651072	0.14467	N	0.317835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.246	0.26121	0.0:0.7031:0.1398:0.1571	.	.	.	.	X	674;666	.	ENSP00000355031:S666X	S	+	2	0	PER3	7809190	0.051000	0.20477	0.001000	0.08648	0.001000	0.01503	2.437000	0.44828	0.178000	0.19917	-0.878000	0.02970	TCG		0.483	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		A	7886603	C	A	7886603	4	1	426	1	0	0	0	0	0	1	0	0	11733	893	31	4	2059	4	PER3	1	7886603	Nonsense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08		7886603	241364018	1	23275											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11217303	11217303	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:11217303C>G	ENST00000361445.4	-	30	4451	c.4375G>C	c.(4375-4377)Gcc>Ccc	p.A1459P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1459	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A1459P(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCCACAAGGGCATCCTCCCAC	0.542																																																1	Substitution - Missense(1)	kidney(1)											163	132	143					1																	11217303		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4375G>C	1.37:g.11217303C>G	ENSP00000354558:p.Ala1459Pro		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684303	0.88639	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.68331	-0.32	5.69	4.79	0.61399	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	M	0.92268	3.29	0.80722	D	1	P	0.45348	0.856	B	0.40444	0.329	T	0.82104	-0.0622	10	0.87932	D	0	.	14.6201	0.68579	0.0:0.93:0.0:0.07	.	1459	P42345	MTOR_HUMAN	P	1459	ENSP00000354558:A1459P	ENSP00000354558:A1459P	A	-	1	0	MTOR	11139890	1.000000	0.71417	0.827000	0.32855	0.934000	0.57294	7.414000	0.80117	1.405000	0.46838	0.655000	0.94253	GCC		0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11217303	C	G	11217303	3	3	426	1	0	0	0	0	1	0	0	0	9956	710	25	4	3390	4	MTOR	1	11217303	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	3330700	11217303	238033318	2	23276											
PRDM2	7799	hgsc.bcm.edu;ucsc.edu	37	1	14108935	14108935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:14108935delT	ENST00000235372.7	+	8	5501	c.4645delT	c.(4645-4647)tcafs	p.S1550fs	PRDM2_ENST00000311066.5_Frame_Shift_Del_p.S1550fs|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Frame_Shift_Del_p.S1349fs|PRDM2_ENST00000343137.4_Frame_Shift_Del_p.S1349fs|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACTTCCCTCCTCATCCTTCAG	0.537																																																0													63	68	66					1																	14108935		2203	4300	6503	SO:0001589	frameshift_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4645delT	1.37:g.14108935delT	ENSP00000235372:p.Ser1550fs		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Frame_Shift_Del	DEL	ENST00000235372.7	37	CCDS150.1																																																																																				0.537	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		-	14108935	T	-	14108935	7	5	426	1	0	1	0	1	0	0	0	0	12463	1551	54	0	4671	0	PRDM2	1	14108935	Frame_Shift_Del	DEL	T	TCGA-BP-5176-01A-01D-1429-08	2891632	14108935	235141686	3	23277											
MYOM3	127294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24434560	24434560	+	Silent	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:24434560T>C	ENST00000374434.3	-	3	327	c.165A>G	c.(163-165)gaA>gaG	p.E55E	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.E56E|MYOM3_ENST00000329601.7_Silent_p.E55E	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	55						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.E55E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CATGCTCTTCTTCGCTGCTCC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											42	48	46					1																	24434560		2025	4159	6184	SO:0001819	synonymous_variant	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.165A>G	1.37:g.24434560T>C			A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	CCDS41281.1																																																																																				0.627	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		C	24434560	T	C	24434560	2	2	426	1	0	0	0	0	0	0	0	1	10095	1606	56	3		3	MYOM3	1	24434560	Silent	SNP	T	TCGA-BP-5176-01A-01D-1429-08	10325625	24434560	224816061	4	23278											
NOTCH2	4853	hgsc.bcm.edu;ucsc.edu	37	1	120458462	120458463	+	Frame_Shift_Ins	INS	-	-	TATA			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:120458462_120458463insTATA	ENST00000256646.2	-	34	7101_7102	c.6882_6883insTATA	c.(6880-6885)ataaccfs	p.T2295fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2295					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGGGGTGGTTATGTGCTTCC	0.599			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0																																										SO:0001589	frameshift_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6882_6883insTATA	1.37:g.120458462_120458463insTATA	ENSP00000256646:p.Thr2295fs		Q5T3X7|Q99734|Q9H240	Frame_Shift_Ins	INS	ENST00000256646.2	37	CCDS908.1																																																																																				0.599	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		TATA	120458463	-	TATA	120458462	7	5	426	1	0	1	1	0	0	0	0	0	10550	1725	60	0	536	0	NOTCH2	1	120458462	Frame_Shift_Ins	INS	-	TCGA-BP-5176-01A-01D-1429-08	96023902	120458462	128792159	5	23279											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201013477	201013477	+	Silent	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:201013477C>G	ENST00000362061.3	-	39	5002	c.4776G>C	c.(4774-4776)gcG>gcC	p.A1592A	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Silent_p.A1573A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1592					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1592A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCCTCCATCGCAGCCTCCA	0.622																																																1	Substitution - coding silent(1)	kidney(1)											86	71	76					1																	201013477		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4776G>C	1.37:g.201013477C>G			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.622	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		G	201013477	C	G	201013477	2	3	426	1	0	0	0	0	0	0	0	1	2549	871	31	4		4	CACNA1S	1	201013477	Silent	SNP	C	TCGA-BP-5176-01A-01D-1429-08	80555015	201013477	48237144	6	23280											
SIPA1L2	57568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	232650976	232650976	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:232650976T>A	ENST00000366630.1	-	2	468	c.110A>T	c.(109-111)aAa>aTa	p.K37I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K37I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	37					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.K37I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGCTTTAAATTTCCGAGCAAA	0.473																																																1	Substitution - Missense(1)	kidney(1)											71	70	71					1																	232650976		1871	4102	5973	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.110A>T	1.37:g.232650976T>A	ENSP00000355589:p.Lys37Ile		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806773	0.70682	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.80738	-1.41;-1.41	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	L	0.56769	1.78	0.58432	D	0.999993	D	0.69078	0.997	D	0.66847	0.947	D	0.88185	0.2873	10	0.66056	D	0.02	-35.3825	15.4025	0.74852	0.0:0.0:0.0:1.0	.	37	Q9P2F8	SI1L2_HUMAN	I	37	ENSP00000355589:K37I;ENSP00000262861:K37I	ENSP00000262861:K37I	K	-	2	0	SIPA1L2	230717599	1.000000	0.71417	0.981000	0.43875	0.839000	0.47603	7.525000	0.81892	2.232000	0.73038	0.528000	0.53228	AAA		0.473	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		A	232650976	T	A	232650976	3	1	426	1	0	0	0	0	1	0	0	0	14336	1841	64	5	5142	5	SIPA1L2	1	232650976	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	31637499	232650976	16599645	7	23281											
PCNXL2	80003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	233296143	233296143	+	Missense_Mutation	SNP	C	C	A	rs548517254		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:233296143C>A	ENST00000258229.9	-	19	3637	c.3403G>T	c.(3403-3405)Gcc>Tcc	p.A1135S	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A268S|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1135						integral component of membrane (GO:0016021)		p.A1135S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AACCCCACGGCTCCAGCCAAG	0.493																																																1	Substitution - Missense(1)	kidney(1)											74	73	73					1																	233296143		1955	4159	6114	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3403G>T	1.37:g.233296143C>A	ENSP00000258229:p.Ala1135Ser		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422335	0.25639	.	.	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.08370	3.1	4.72	-9.44	0.00603	.	.	.	.	.	T	0.04998	0.0134	L	0.28115	0.83	0.09310	N	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.38564	-0.9655	9	0.42905	T	0.14	.	9.461	0.38785	0.1656:0.0919:0.0:0.7425	.	1135	A6NKB5	PCX2_HUMAN	S	1135;268	ENSP00000258229:A1135S	ENSP00000258229:A1135S	A	-	1	0	PCNXL2	231362766	0.025000	0.19082	0.000000	0.03702	0.417000	0.31264	0.407000	0.21049	-2.226000	0.00723	-1.105000	0.02106	GCC		0.493	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		A	233296143	C	A	233296143	3	1	426	1	0	0	0	0	1	0	0	0	11594	797	28	4	3074	4	PCNXL2	1	233296143	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	645167	233296143	15954478	8	23282											
GTF3C2	2976	hgsc.bcm.edu;ucsc.edu	37	2	27550049	27550049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:27550049delG	ENST00000359541.2	-	18	2941	c.2512delC	c.(2512-2514)catfs	p.H838fs	GTF3C2_ENST00000264720.3_Frame_Shift_Del_p.H838fs|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	838					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTACCTTATGAATAGCCTCC	0.527																																																0													68	57	61					2																	27550049		2203	4300	6503	SO:0001589	frameshift_variant	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2512delC	2.37:g.27550049delG	ENSP00000352536:p.His838fs		D6W557|Q16632|Q9BWI7	Frame_Shift_Del	DEL	ENST00000359541.2	37	CCDS1749.1																																																																																				0.527	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			-	27550049	G	-	27550049	7	5	426	1	0	1	0	1	0	0	0	0	6875	1290	45	0	231	0	GTF3C2	2	27550049	Frame_Shift_Del	DEL	G	TCGA-BP-5176-01A-01D-1429-08		27550049	215649324	9	23283											
OTX1	5013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63283120	63283120	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:63283120G>A	ENST00000282549.2	+	5	1010	c.734G>A	c.(733-735)gGc>gAc	p.G245D	OTX1_ENST00000366671.3_Missense_Mutation_p.G245D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	245					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G245D(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					TACTTTGGCGGCGTGGACTGC	0.657																																																1	Substitution - Missense(1)	kidney(1)											89	84	86					2																	63283120		2203	4300	6503	SO:0001583	missense	5013				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.734G>A	2.37:g.63283120G>A	ENSP00000282549:p.Gly245Asp		A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059285	0.76074	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.89746	-2.56;-2.56	3.61	3.61	0.41365	Transcription factor Otx, C-terminal (1);	0.276456	0.34725	N	0.003737	D	0.94437	0.8210	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95253	0.8361	10	0.72032	D	0.01	.	14.5134	0.67804	0.0:0.0:1.0:0.0	.	245	P32242	OTX1_HUMAN	D	245	ENSP00000355631:G245D;ENSP00000282549:G245D	ENSP00000282549:G245D	G	+	2	0	OTX1	63136624	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.500000	0.97977	2.008000	0.58898	0.462000	0.41574	GGC		0.657	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			A	63283120	G	A	63283120	3	1	426	1	0	0	0	0	1	0	0	0	11322	1203	42	2	744	2	OTX1	2	63283120	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	35733071	63283120	179916253	10	23284											
RNF103	7844	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	86831681	86831681	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:86831681T>A	ENST00000237455.4	-	4	2311	c.1343A>T	c.(1342-1344)aAt>aTt	p.N448I	AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'Flank|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	448					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N448I(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTTATTGGCATTGACTTCATC	0.418																																																1	Substitution - Missense(1)	kidney(1)											125	124	125					2																	86831681		2203	4300	6503	SO:0001583	missense	7844			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1343A>T	2.37:g.86831681T>A	ENSP00000237455:p.Asn448Ile		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722675	0.48728	.	.	ENSG00000239305	ENST00000237455	T	0.46451	0.87	5.59	5.59	0.84812	.	0.044753	0.85682	D	0.000000	T	0.61476	0.2350	L	0.60455	1.87	0.54753	D	0.999988	D	0.76494	0.999	D	0.80764	0.994	T	0.64002	-0.6509	10	0.66056	D	0.02	-16.2147	15.7662	0.78128	0.0:0.0:0.0:1.0	.	448	O00237	RN103_HUMAN	I	448	ENSP00000237455:N448I	ENSP00000237455:N448I	N	-	2	0	RNF103	86685192	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	3.609000	0.54117	2.133000	0.65898	0.377000	0.23210	AAT		0.418	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		A	86831681	T	A	86831681	3	1	426	1	0	0	0	0	1	0	0	0	13429	1493	52	5	718	5	RNF103	2	86831681	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	23548561	86831681	156367692	11	23285											
BAZ2B	29994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160268963	160268963	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:160268963G>T	ENST00000392783.2	-	14	3055	c.2560C>A	c.(2560-2562)Caa>Aaa	p.Q854K	BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q820K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q754K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q818K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	854	Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q854K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTGCTCGTTGTCTATCTGGA	0.458																																																1	Substitution - Missense(1)	kidney(1)											248	218	228					2																	160268963		1954	4163	6117	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2560C>A	2.37:g.160268963G>T	ENSP00000376534:p.Gln854Lys		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.47|16.47	3.133264|3.133264	0.56828|0.56828	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000441143	T;D;T;D|.	0.95821|.	0.4;-3.82;0.4;-3.82|.	5.69|5.69	5.69|5.69	0.88448|0.88448	DNA-binding, integrase-type (1);|.	0.233794|.	0.21671|.	U|.	0.070862|.	T|T	0.56761|0.56761	0.2007|0.2007	N|N	0.24115|0.24115	0.695|0.695	0.54753|0.54753	D|D	0.999982|0.999982	P;P;B;P|.	0.52692|.	0.486;0.955;0.449;0.925|.	B;P;B;P|.	0.46026|.	0.333;0.501;0.145;0.48|.	T|T	0.49986|0.49986	-0.8880|-0.8880	10|5	0.20046|.	T|.	0.44|.	-2.2151|-2.2151	19.8022|19.8022	0.96513|0.96513	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	658;754;818;854|.	Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8|.	.;.;.;BAZ2B_HUMAN|.	K|K	818;854;820;754|187	ENSP00000376533:Q818K;ENSP00000376534:Q854K;ENSP00000348087:Q820K;ENSP00000339670:Q754K|.	ENSP00000339670:Q754K|.	Q|T	-|-	1|2	0|0	BAZ2B|BAZ2B	159977209|159977209	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.976000|0.976000	0.68499|0.68499	9.283000|9.283000	0.95860|0.95860	2.674000|2.674000	0.91012|0.91012	0.650000|0.650000	0.86243|0.86243	CAA|ACA		0.458	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			T	160268963	G	T	160268963	3	4	426	1	0	0	0	0	1	0	0	0	1332	1386	48	4	4042	4	BAZ2B	2	160268963	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	73437282	160268963	82930410	12	23286											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179613182	179613182	+	Intron	DEL	T	T	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:179613182delT	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Frame_Shift_Del_p.I4649fs|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			GGGCTAGGAATTTTTTCTTTA	0.363																																																0													82	92	88					2																	179613182		2203	4298	6501	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4668A>-	2.37:g.179613182delT			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	ENST00000591111.1	37																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179613182	T	-	179613182	6	5	426	0	1	1	0	1	0	0	0	0	16740	1493	52	0		0	TTN	2	179613182	Intron	DEL	T	TCGA-BP-5176-01A-01D-1429-08	19344219	179613182	63586191	13	23287											
FAM171B	165215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	187615886	187615886	+	Silent	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:187615886T>C	ENST00000304698.5	+	5	953	c.750T>C	c.(748-750)ccT>ccC	p.P250P		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	250						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.P250P(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATTGACTCCTCTTGCTGCAA	0.308																																																1	Substitution - coding silent(1)	kidney(1)											104	117	113					2																	187615886		2203	4300	6503	SO:0001819	synonymous_variant	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.750T>C	2.37:g.187615886T>C			Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	CCDS33347.1																																																																																				0.308	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		C	187615886	T	C	187615886	2	2	426	1	0	0	0	0	0	0	0	1	5493	1538	54	3		3	FAM171B	2	187615886	Silent	SNP	T	TCGA-BP-5176-01A-01D-1429-08	8002704	187615886	55583487	14	23288											
ABCB6	10058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220075171	220075171	+	Missense_Mutation	SNP	A	A	C	rs151051476	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:220075171A>C	ENST00000265316.3	-	17	2599	c.2283T>G	c.(2281-2283)aaT>aaG	p.N761K	ABCB6_ENST00000439002.2_Missense_Mutation_p.N715K	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	761	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.N761K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCCTCTCATTAGATGTAT	0.572																																																1	Substitution - Missense(1)	kidney(1)											71	65	67					2																	220075171		2203	4300	6503	SO:0001583	missense	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2283T>G	2.37:g.220075171A>C	ENSP00000265316:p.Asn761Lys		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.56|15.56	2.868310|2.868310	0.51588|0.51588	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.83914	.|-1.78;-1.78	5.66|5.66	-4.34|-4.34	0.03666|0.03666	.|ATPase, AAA+ type, core (1);ABC transporter-like (1);	.|0.050522	.|0.85682	.|D	.|0.000000	T|T	0.71195|0.71195	0.3311|0.3311	L|L	0.59912|0.59912	1.85|1.85	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33748	.|0.423;0.298	.|B;B	.|0.31290	.|0.127;0.06	T|T	0.56691|0.56691	-0.7937|-0.7937	5|10	.|0.87932	.|D	.|0	-9.2869|-9.2869	3.8108|3.8108	0.08796|0.08796	0.3803:0.1142:0.3946:0.1109|0.3803:0.1142:0.3946:0.1109	.|.	.|715;761	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	R|K	609|761;715	.|ENSP00000265316:N761K;ENSP00000394333:N715K	.|ENSP00000265316:N761K	M|N	-|-	2|3	0|2	ABCB6|ABCB6	219783415|219783415	0.000000|0.000000	0.05858|0.05858	0.145000|0.145000	0.22337|0.22337	0.997000|0.997000	0.91878|0.91878	-2.933000|-2.933000	0.00687|0.00687	-0.676000|-0.676000	0.05238|0.05238	0.528000|0.528000	0.53228|0.53228	ATG|AAT		0.572	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		C	220075171	A	C	220075171	3	2	426	1	0	0	0	0	1	0	0	0	45	214	8	5	257	5	ABCB6	2	220075171	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08	32459285	220075171	23124202	15	23289											
SP100	6672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	231407658	231407658	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:231407658T>G	ENST00000340126.4	+	29	2686	c.2655T>G	c.(2653-2655)atT>atG	p.I885M	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.I885M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAATGTTTATTTAGCCATTCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											75	70	71					2																	231407658		1870	4112	5982	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2655T>G	2.37:g.231407658T>G	ENSP00000343023:p.Ile885Met		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	6.285|6.285	0.420760|0.420760	0.11928|0.11928	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000340126;ENST00000414648|ENST00000431952	T|.	0.60920|.	0.15|.	3.46|3.46	-6.93|-6.93	0.01638|0.01638	.|.	.|.	.|.	.|.	.|.	T|T	0.15435|0.15435	0.0372|0.0372	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.15930|.	0.003;0.015|.	B;B|.	0.14578|.	0.003;0.011|.	T|T	0.09164|0.09164	-1.0687|-1.0687	9|5	0.40728|.	T|.	0.16|.	.|.	0.573|0.573	0.00699|0.00699	0.3688:0.221:0.1159:0.2943|0.3688:0.221:0.1159:0.2943	.|.	355;885|.	E9PHN1;P23497-4|.	.;.|.	M|V	885;355|259	ENSP00000343023:I885M|.	ENSP00000343023:I885M|.	I|L	+|+	3|1	3|2	SP100|SP100	231115902|231115902	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.268000|-2.268000	0.01169|0.01169	-3.501000|-3.501000	0.00151|0.00151	-0.333000|-0.333000	0.08304|0.08304	ATT|TTA		0.413	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113		G	231407658	T	G	231407658	3	3	426	1	0	0	0	0	1	0	0	0	14966	1829	64	5	3319	5	SP100	2	231407658	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	11332487	231407658	11791715	16	23290											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191571	10191572	+	Nonsense_Mutation	DNP	GG	GG	TT	rs121913345		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:10191571_10191572GG>TT	ENST00000256474.2	+	3	1404_1405	c.564_565GG>TT	c.(562-567)ctGGaa>ctTTaa	p.E189*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.E148*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	189					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E189K(3)|p.E189*(2)|p.E189fs*12(1)|p.D187fs*14(1)|p.E189fs*27(1)|p.E189fs*25(1)|p.Y185fs*11(1)|p.E189fs*13(1)|p.L188L(1)|p.L188>?(1)|p.D187_N193del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACGAAGATCTGGAAGACCACCC	0.5		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	14	Deletion - Frameshift(5)|Substitution - Missense(3)|Substitution - Nonsense(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex(1)|Substitution - coding silent(1)	kidney(14)	GRCh37	CD983007	VHL	D																																				SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	Exception_encountered	3.37:g.10191571_10191572delinsTT	ENSP00000256474:p.Glu189*		B2RE45|Q13599|Q6PDA9	Silent|Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.5	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		TT	10191572	GG	TT	10191571	4	4	426	1	0	0	0	0	0	1	0	0	17167	1335	47	4	574	4	VHL	3	10191571	Nonsense_Mutation	DNP	GG	TCGA-BP-5176-01A-01D-1429-08		10191571	187830859	17	23291											
RRP9	9136	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	51971260	51971260	+	Silent	SNP	G	G	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:51971260G>T	ENST00000232888.6	-	6	538	c.465C>A	c.(463-465)acC>acA	p.T155T		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	155					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.T155T(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		AGTCATCGGGGGTGACGACCA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											131	127	128					3																	51971260		2203	4300	6503	SO:0001819	synonymous_variant	9136			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.465C>A	3.37:g.51971260G>T			B2R996|Q8IZ30	Silent	SNP	ENST00000232888.6	37	CCDS2837.1																																																																																				0.602	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704		T	51971260	G	T	51971260	2	4	426	1	0	0	0	0	0	0	0	1	13697	1219	43	4		4	RRP9	3	51971260	Silent	SNP	G	TCGA-BP-5176-01A-01D-1429-08	41779689	51971260	146051170	18	23292											
RAB43	339122	broad.mit.edu;hgsc.bcm.edu	37	3	128813982	128813982	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:128813982G>A	ENST00000315150.5	-	2	535	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	RAB43_ENST00000393307.1_Missense_Mutation_p.R79W|RAB43_ENST00000476465.1_Missense_Mutation_p.R79W|RAB43_ENST00000393304.1_Missense_Mutation_p.R79W|RAB43_ENST00000393305.1_Missense_Mutation_p.R79W|ISY1-RAB43_ENST00000418265.1_Silent_p.S294S|RAB43_ENST00000393308.1_Missense_Mutation_p.R79W	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	79					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R79W(1)		kidney(2)|liver(1)|lung(2)|skin(1)	6						GTGCGGAACCGCTCCTGGCCG	0.592																																																1	Substitution - Missense(1)	kidney(1)											57	56	56					3																	128813982		2203	4300	6503	SO:0001583	missense	339122			AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"RAB, member RAS oncogene"	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.235C>T	3.37:g.128813982G>A	ENSP00000319781:p.Arg79Trp		A8K4P9|E9PBQ0	Missense_Mutation	SNP	ENST00000315150.5	37	CCDS33850.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770795	0.49680	.	.	ENSG00000172780	ENST00000315150;ENST00000393304;ENST00000393308;ENST00000393307;ENST00000393305;ENST00000476465;ENST00000457077	T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	4.55	2.71	0.32032	Small GTP-binding protein domain (1);	.	.	.	.	T	0.74023	0.3662	.	.	.	0.80722	D	1	P;B	0.49635	0.926;0.213	P;B	0.46825	0.528;0.04	T	0.70927	-0.4739	8	0.66056	D	0.02	.	5.55	0.17086	0.0952:0.0:0.5583:0.3464	.	79;79	E9PBQ0;Q86YS6	.;RAB43_HUMAN	W	79	ENSP00000319781:R79W;ENSP00000376981:R79W;ENSP00000376985:R79W;ENSP00000376984:R79W;ENSP00000376982:R79W;ENSP00000427632:R79W;ENSP00000390782:R79W	ENSP00000319781:R79W	R	-	1	2	RAB43	130296672	0.995000	0.38212	0.922000	0.36590	0.963000	0.63663	0.545000	0.23268	0.340000	0.23745	0.467000	0.42956	CGG		0.592	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714		A	128813982	G	A	128813982	3	1	426	1	0	0	0	0	1	0	0	0	12951	1086	38	1	411	1	RAB43	3	128813982	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	76842722	128813982	69208448	19	23293											
CDV3	55573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	133306843	133306843	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:133306843T>C	ENST00000264993.3	+	5	1045	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	CDV3_ENST00000515421.1_Intron|CDV3_ENST00000508481.1_Missense_Mutation_p.Y142H|CDV3_ENST00000420115.2_3'UTR	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	244					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.Y244H(1)		kidney(3)|lung(1)|prostate(1)	5						AGACAACCAATATGCTGTGCT	0.408																																																1	Substitution - Missense(1)	kidney(1)											85	88	87					3																	133306843		2203	4300	6503	SO:0001583	missense	55573			AK096865	CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1	3q22.1	2008-02-05			ENSG00000091527	ENSG00000091527			26928	protein-coding gene	gene with protein product						10497265	Standard	NM_017548		Approved	H41	uc003epq.3	Q9UKY7	OTTHUMG00000159764	ENST00000264993.3:c.730T>C	3.37:g.133306843T>C	ENSP00000264993:p.Tyr244His		B3KUC2|Q96IP9	Missense_Mutation	SNP	ENST00000264993.3	37	CCDS3079.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482247	0.84747	.	.	ENSG00000091527	ENST00000264993;ENST00000508481	.	.	.	5.51	5.51	0.81932	.	0.057844	0.64402	D	0.000001	T	0.79323	0.4426	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.82354	-0.0499	9	0.87932	D	0	.	15.6247	0.76845	0.0:0.0:0.0:1.0	.	244	Q9UKY7	CDV3_HUMAN	H	244;142	.	ENSP00000264993:Y244H	Y	+	1	0	CDV3	134789533	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.356000	0.79445	2.106000	0.64143	0.528000	0.53228	TAT		0.408	CDV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357203.1	NM_017548		C	133306843	T	C	133306843	3	2	426	1	0	0	0	0	1	0	0	0	3183	1406	49	3	768	3	CDV3	3	133306843	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	4492861	133306843	64715587	20	23294											
GPR171	29909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	150916820	150916820	+	Silent	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:150916820G>A	ENST00000309180.5	-	3	584	c.354C>T	c.(352-354)caC>caT	p.H118H	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	118					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H118H(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTGCAGCTGTGTGTCAGCT	0.408																																																1	Substitution - coding silent(1)	kidney(1)											70	70	70					3																	150916820		2203	4300	6503	SO:0001819	synonymous_variant	29909			AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"GPCR / Class A : Orphans"	30057	protein-coding gene	gene with protein product	"platelet activating receptor homolog"					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.354C>T	3.37:g.150916820G>A			D3DNJ4|Q8IV06	Silent	SNP	ENST00000309180.5	37	CCDS3155.1																																																																																				0.408	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		A	150916820	G	A	150916820	2	1	426	1	0	0	0	0	0	0	0	1	6670	1368	48	2		2	GPR171	3	150916820	Silent	SNP	G	TCGA-BP-5176-01A-01D-1429-08	17609977	150916820	47105610	21	23295											
KCNAB1	7881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	156249255	156249255	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:156249255A>T	ENST00000490337.1	+	13	1203	c.1139A>T	c.(1138-1140)gAa>gTa	p.E380V	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Missense_Mutation_p.E369V|KCNAB1_ENST00000389636.5_Missense_Mutation_p.E351V|KCNAB1_ENST00000389634.5_Missense_Mutation_p.E333V|KCNAB1_ENST00000302490.8_Missense_Mutation_p.E362V	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	380					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.E362V(1)|p.E380V(1)|p.E369V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCACTCCTGAACAACTCATT	0.502																																																3	Substitution - Missense(3)	kidney(3)											234	199	211					3																	156249255		2203	4300	6503	SO:0001583	missense	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.1139A>T	3.37:g.156249255A>T	ENSP00000419952:p.Glu380Val		A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	a	15.79	2.938221	0.52972	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.96	4.96	0.65561	NADP-dependent oxidoreductase domain (3);	0.127419	0.56097	D	0.000028	T	0.58250	0.2109	M	0.84433	2.695	0.58432	D	0.999995	B;B;B;B;B	0.32893	0.389;0.086;0.018;0.034;0.042	B;B;B;B;B	0.38921	0.285;0.192;0.124;0.069;0.113	T	0.64202	-0.6463	10	0.56958	D	0.05	-4.4342	14.6307	0.68653	1.0:0.0:0.0:0.0	.	351;333;362;369;380	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	V	380;351;369;362;333	ENSP00000419952:E380V;ENSP00000374287:E351V;ENSP00000418956:E369V;ENSP00000305858:E362V;ENSP00000374285:E333V	ENSP00000305858:E362V	E	+	2	0	KCNAB1	157731949	0.968000	0.33430	0.679000	0.29978	0.880000	0.50808	2.574000	0.46016	1.843000	0.53566	0.375000	0.23000	GAA		0.502	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		T	156249255	A	T	156249255	3	4	426	1	0	0	0	0	1	0	0	0	8011	246	9	5	1660	5	KCNAB1	3	156249255	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08	5332435	156249255	41773175	22	23296											
KIAA0226	9711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	197410178	197410178	+	Splice_Site	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:197410178C>T	ENST00000296343.5	-	13	1979	c.1980G>A	c.(1978-1980)aaG>aaA	p.K660K	KIAA0226_ENST00000389665.5_Splice_Site_p.K685K|KIAA0226_ENST00000273582.5_Splice_Site_p.K615K	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	660					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.K615K(1)|p.K660K(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AAGGACCTACCTTCTGAGGGG	0.592																																					Esophageal Squamous(3;167 355 3763 15924)											2	Substitution - coding silent(2)	kidney(2)											63	67	65					3																	197410178		1987	4155	6142	SO:0001630	splice_region_variant	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1980+1G>A	3.37:g.197410178C>T			Q96CK5	Silent	SNP	ENST00000296343.5	37	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.312604|1.312604	0.23908|0.23908	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000415452	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|.	.|.	.|.	.|.	T|T	0.69151|0.69151	0.3079|0.3079	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67333|0.67333	-0.5697|-0.5697	4|4	.|.	.|.	.|.	.|.	13.5933|13.5933	0.61971|0.61971	0.0:0.9257:0.0:0.0743|0.0:0.9257:0.0:0.0743	.|.	.|.	.|.	.|.	T|N	622|444	.|.	.|.	A|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198894575|198894575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.218000|0.218000	0.24690|0.24690	6.051000|6.051000	0.71072|0.71072	2.585000|2.585000	0.87301|0.87301	0.591000|0.591000	0.81541|0.81541	GCT|AGC		0.592	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	Silent	T	197410178	C	T	197410178	5	4	426	1	0	0	0	0	0	0	1	0	8164	695	24	2	970	2	KIAA0226	3	197410178	Splice_Site	SNP	C	TCGA-BP-5176-01A-01D-1429-08	41160923	197410178	612252	23	23297											
FAM114A1	92689	hgsc.bcm.edu;ucsc.edu	37	4	38924467	38924467	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr4:38924467T>C	ENST00000358869.2	+	9	1198	c.1022T>C	c.(1021-1023)aTc>aCc	p.I341T	FAM114A1_ENST00000515037.1_Missense_Mutation_p.I134T	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	341						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATTAAAGACATCTTTGCAGCC	0.338																																																0													94	94	94					4																	38924467		2203	4300	6503	SO:0001583	missense	92689				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.1022T>C	4.37:g.38924467T>C	ENSP00000351740:p.Ile341Thr		A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547782	0.65311	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.25250	1.81;2.75	5.8	5.8	0.92144	.	0.044592	0.85682	D	0.000000	T	0.33118	0.0852	L	0.53729	1.69	0.58432	D	0.999999	P	0.48089	0.905	P	0.47528	0.549	T	0.02758	-1.1114	10	0.25106	T	0.35	-17.22	16.1464	0.81575	0.0:0.0:0.0:1.0	.	341	Q8IWE2	NXP20_HUMAN	T	134;341;134	ENSP00000424115:I134T;ENSP00000351740:I341T	ENSP00000347569:I134T	I	+	2	0	FAM114A1	38600862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.739000	0.55075	2.220000	0.72140	0.383000	0.25322	ATC		0.338	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		C	38924467	T	C	38924467	3	2	426	1	0	0	0	0	1	0	0	0	5405	1435	50	3	1048	3	FAM114A1	4	38924467	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08		38924467	152229809	24	23298											
SCARB2	950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77082897	77082897	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr4:77082897G>A	ENST00000264896.2	-	12	1755	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	SCARB2_ENST00000452464.2_Missense_Mutation_p.A326V	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	469					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)	p.A469V(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TCTTTCATCCGCTGTTCCCTG	0.493																																																1	Substitution - Missense(1)	kidney(1)											165	145	152					4																	77082897		2203	4300	6503	SO:0001583	missense	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1406C>T	4.37:g.77082897G>A	ENSP00000264896:p.Ala469Val		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469845	0.43839	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;D	0.90563	-0.33;-2.69	5.23	5.23	0.72850	.	0.485690	0.22422	N	0.060261	T	0.82006	0.4943	N	0.24115	0.695	0.30186	N	0.799991	B;B	0.33135	0.399;0.074	B;B	0.16289	0.015;0.006	T	0.79047	-0.1963	10	0.33940	T	0.23	.	14.6832	0.69033	0.0:0.0:1.0:0.0	.	326;469	E7EM68;Q14108	.;SCRB2_HUMAN	V	469;326	ENSP00000264896:A469V;ENSP00000399154:A326V	ENSP00000264896:A469V	A	-	2	0	SCARB2	77301921	0.386000	0.25180	0.987000	0.45799	0.820000	0.46376	2.158000	0.42329	2.596000	0.87737	0.655000	0.94253	GCG		0.493	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		A	77082897	G	A	77082897	3	1	426	1	0	0	0	0	1	0	0	0	13888	1087	38	1	34	1	SCARB2	4	77082897	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	38158430	77082897	114071379	25	23299											
RASGEF1B	153020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	82380577	82380577	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr4:82380577C>T	ENST00000264400.2	-	2	237	c.86G>A	c.(85-87)gGa>gAa	p.G29E	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.G29E|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.G29E|RASGEF1B_ENST00000436139.2_Missense_Mutation_p.G29E|RASGEF1B_ENST00000514889.1_5'Flank	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	29					positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.G29E(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ATACAACCCTCCACAGCTGTC	0.453																																																1	Substitution - Missense(1)	kidney(1)											100	95	97					4																	82380577		2203	4300	6503	SO:0001583	missense	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.86G>A	4.37:g.82380577C>T	ENSP00000264400:p.Gly29Glu		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594575	0.46214	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000436139;ENST00000395570	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.26	4.34	0.51931	Ras guanine nucleotide exchange factor, domain (1);	0.465275	0.23325	N	0.049420	T	0.08891	0.0220	N	0.04636	-0.2	0.32583	N	0.528216	B;B;B;B	0.20368	0.001;0.044;0.001;0.0	B;B;B;B	0.19666	0.007;0.026;0.004;0.002	T	0.27191	-1.0081	10	0.02654	T	1	.	6.8234	0.23870	0.0:0.6896:0.1736:0.1368	.	29;29;29;29	Q0VAM2-2;Q8N437;Q0VAM2-3;Q0VAM2	.;.;.;RGF1B_HUMAN	E	29	ENSP00000425393:G29E;ENSP00000264400:G29E;ENSP00000338437:G29E;ENSP00000398763:G29E	ENSP00000264400:G29E	G	-	2	0	RASGEF1B	82599601	0.709000	0.27886	1.000000	0.80357	0.986000	0.74619	0.913000	0.28611	2.742000	0.94016	0.591000	0.81541	GGA		0.453	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		T	82380577	C	T	82380577	3	4	426	1	0	0	0	0	1	0	0	0	13076	855	30	2	1387	2	RASGEF1B	4	82380577	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	5297680	82380577	108773699	26	23300											
IL15	3600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	142651079	142651079	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr4:142651079T>G	ENST00000296545.7	+	7	1164	c.320T>G	c.(319-321)aTt>aGt	p.I107S	IL15_ENST00000394159.1_Missense_Mutation_p.I80S|IL15_ENST00000320650.4_Missense_Mutation_p.I107S|IL15_ENST00000529613.1_Missense_Mutation_p.I107S|IL15_ENST00000514653.1_Missense_Mutation_p.I80S|IL15_ENST00000477265.1_Missense_Mutation_p.I80S			P40933	IL15_HUMAN	interleukin 15	107					aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I107S(1)		kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					GATGCAAGTATTCATGATACA	0.358																																					Pancreas(10;184 986 25902)											1	Substitution - Missense(1)	kidney(1)											116	115	115					4																	142651079		2203	4299	6502	SO:0001583	missense	3600			U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"Interleukins and interleukin receptors"	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.320T>G	4.37:g.142651079T>G	ENSP00000296545:p.Ile107Ser		D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Missense_Mutation	SNP	ENST00000296545.7	37	CCDS3755.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003818	0.54254	.	.	ENSG00000164136	ENST00000320650;ENST00000296545;ENST00000514653;ENST00000529613;ENST00000477265;ENST00000394159	.	.	.	5.5	5.5	0.81552	.	0.485509	0.20410	N	0.092876	T	0.55768	0.1941	M	0.75447	2.3	0.09310	N	1	P	0.42757	0.789	P	0.46362	0.514	T	0.57118	-0.7866	9	0.59425	D	0.04	-3.7769	12.2854	0.54789	0.0:0.0:0.0:1.0	.	107	P40933	IL15_HUMAN	S	107;107;80;107;80;80	.	ENSP00000296545:I107S	I	+	2	0	IL15	142870529	0.045000	0.20229	0.004000	0.12327	0.001000	0.01503	3.595000	0.54016	2.224000	0.72417	0.533000	0.62120	ATT		0.358	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257278.2	NM_172175		G	142651079	T	G	142651079	3	3	426	1	0	0	0	0	1	0	0	0	7633	1493	52	5	338	5	IL15	4	142651079	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	60270502	142651079	48503197	27	23301											
ACCN5	51802	hgsc.bcm.edu;ucsc.edu	37	4	156787340	156787340	+	Splice_Site	DEL	G	G	-	rs6848883	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr4:156787340delG	ENST00000537611.2	-	1	85	c.39delC	c.(37-39)aac>aa	p.N13fs		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	13					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.N13N(1)									TTTACTCACCGTTCTCAGCAT	0.348																																																1	Substitution - coding silent(1)	prostate(1)											155	141	146					4																	156787340		2203	4299	6502	SO:0001630	splice_region_variant	0			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.40+1C>-	4.37:g.156787340delG				Frame_Shift_Del	DEL	ENST00000537611.2	37	CCDS3793.1																																																																																				0.348	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1		Frame_Shift_Del	-	156787340	G	-	156787340	8	5	426	1	0	1	0	1	0	0	1	0	132	1159	40	0	1518	0	ACCN5	4	156787340	Splice_Site	DEL	G	TCGA-BP-5176-01A-01D-1429-08	14136261	156787340	34366936	28	23302											
SLCO4C1	353189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	101631681	101631681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:101631681G>A	ENST00000310954.6	-	1	572	c.286C>T	c.(286-288)Caa>Taa	p.Q96*		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.Q96*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGAGACATTGAGGATGGAAG	0.592																																																1	Substitution - Nonsense(1)	kidney(1)											75	75	75					5																	101631681		2203	4300	6503	SO:0001587	stop_gained	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.286C>T	5.37:g.101631681G>A	ENSP00000309741:p.Gln96*			Nonsense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594267	0.86953	.	.	ENSG00000173930	ENST00000310954	.	.	.	4.32	1.55	0.23275	.	2.100700	0.02746	N	0.116906	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.7205	0.02911	0.1124:0.3296:0.2848:0.2732	.	.	.	.	X	96	.	ENSP00000309741:Q96X	Q	-	1	0	SLCO4C1	101659580	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	0.008000	0.13197	0.097000	0.17492	0.591000	0.81541	CAA		0.592	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		A	101631681	G	A	101631681	4	1	426	1	0	0	0	0	0	1	0	0	14736	1299	45	2	1940	2	SLCO4C1	5	101631681	Nonsense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08		101631681	79283579	29	23303											
SPOCK1	6695	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	136328254	136328254	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:136328254G>A	ENST00000394945.1	-	7	794	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	SPOCK1_ENST00000282223.7_Missense_Mutation_p.R209W	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	209					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R209W(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCTTCAGCCGGGAGGCAAGG	0.527																																																2	Substitution - Missense(2)	stomach(1)|kidney(1)											126	117	120					5																	136328254		2203	4300	6503	SO:0001583	missense	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.625C>T	5.37:g.136328254G>A	ENSP00000378401:p.Arg209Trp		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608372	0.87258	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000510689	T;T;T	0.66995	0.21;0.21;-0.24	5.89	5.89	0.94794	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.066318	0.64402	D	0.000009	D	0.84032	0.5383	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86146	0.1584	10	0.87932	D	0	.	15.6298	0.76899	0.0:0.0:0.8623:0.1377	.	209	Q08629	TICN1_HUMAN	W	209;209;64	ENSP00000378401:R209W;ENSP00000282223:R209W;ENSP00000421677:R64W	ENSP00000282223:R209W	R	-	1	2	SPOCK1	136356153	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.742000	0.68646	2.794000	0.96219	0.655000	0.94253	CGG		0.527	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		A	136328254	G	A	136328254	3	1	426	1	0	0	0	0	1	0	0	0	15084	1115	39	1	714	1	SPOCK1	5	136328254	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	34696573	136328254	44587006	30	23304											
PCDHGA8	9708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140773214	140773214	+	Silent	SNP	A	A	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:140773214A>G	ENST00000398604.2	+	1	834	c.834A>G	c.(832-834)gcA>gcG	p.A278A	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	278	Cadherin 3. {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)	p.A278A(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTGGCATACAAATTCC	0.423																																																1	Substitution - coding silent(1)	kidney(1)											71	75	74					5																	140773214		1847	4096	5943	SO:0001819	synonymous_variant	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.834A>G	5.37:g.140773214A>G			A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	CCDS47291.1																																																																																				0.423	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		G	140773214	A	G	140773214	2	3	426	1	0	0	0	0	0	0	0	1	11562	204	8	3		3	PCDHGA8	5	140773214	Silent	SNP	A	TCGA-BP-5176-01A-01D-1429-08	4444960	140773214	40142046	31	23305											
FAT2	2196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150901058	150901058	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:150901058A>T	ENST00000261800.5	-	18	11108	c.11096T>A	c.(11095-11097)cTa>cAa	p.L3699Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3699					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3699Q(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGGATGCTAGCTCCTGAAA	0.582																																																1	Substitution - Missense(1)	kidney(1)											73	71	72					5																	150901058		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11096T>A	5.37:g.150901058A>T	ENSP00000261800:p.Leu3699Gln		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633397	0.47049	.	.	ENSG00000086570	ENST00000261800	T	0.50548	0.74	5.66	4.47	0.54385	.	0.000000	0.48286	D	0.000196	T	0.66597	0.2805	M	0.73962	2.25	0.31746	N	0.635207	D;D	0.89917	1.0;0.998	D;D	0.71184	0.972;0.915	T	0.74399	-0.3678	10	0.87932	D	0	.	12.773	0.57432	0.8629:0.1371:0.0:0.0	.	3699;890	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	Q	3699	ENSP00000261800:L3699Q	ENSP00000261800:L3699Q	L	-	2	0	FAT2	150881251	0.925000	0.31364	0.697000	0.30258	0.609000	0.37215	4.972000	0.63756	0.940000	0.37473	0.459000	0.35465	CTA		0.582	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150901058	A	T	150901058	3	4	426	1	0	0	0	0	1	0	0	0	5692	420	15	5	1977	5	FAT2	5	150901058	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08	10127844	150901058	30014202	32	23306											
CNOT8	9337	hgsc.bcm.edu;ucsc.edu	37	5	154254886	154254899	+	Frame_Shift_Del	DEL	TGTGGGCGGCTCTA	TGTGGGCGGCTCTA	-	rs199732823		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	TGTGGGCGGCTCTA	TGTGGGCGGCTCTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:154254886_154254899delTGTGGGCGGCTCTA	ENST00000517876.1	+	8	1242_1255	c.766_779delTGTGGGCGGCTCTA	c.(766-780)tgtgggcggctctatfs	p.CGRLY256fs	CNOT8_ENST00000285896.6_Frame_Shift_Del_p.CGRLY256fs|CNOT8_ENST00000521450.1_Frame_Shift_Del_p.CGRLY150fs|CNOT8_ENST00000524105.1_Frame_Shift_Del_p.CGRLY92fs|CNOT8_ENST00000521583.1_Frame_Shift_Del_p.CGRLY150fs|CNOT8_ENST00000519404.1_Frame_Shift_Del_p.CGRLY202fs|CNOT8_ENST00000403027.2_Frame_Shift_Del_p.CGRLY256fs|CNOT8_ENST00000523698.1_Frame_Shift_Del_p.CGRLY150fs|CNOT8_ENST00000520671.1_Frame_Shift_Del_p.CGRLY150fs			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	256					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCCAAGTACTGTGGGCGGCTCTATGGCTTAGGC	0.472																																					NSCLC(140;1804 1895 27149 29895 35312)											0																																										SO:0001589	frameshift_variant	9337			AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"PGK promoter directed over production"	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.766_779delTGTGGGCGGCTCTA	5.37:g.154254886_154254899delTGTGGGCGGCTCTA	ENSP00000430493:p.Cys256fs		B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Frame_Shift_Del	DEL	ENST00000517876.1	37	CCDS4329.1																																																																																				0.472	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1	NM_004779		-	154254899	TGTGGGCGGCTCTA	-	154254886	7	5	426	1	0	1	0	1	0	0	0	0	3627	1580	55	0	788	0	CNOT8	5	154254886	Frame_Shift_Del	DEL	TGTGGGCGGCTCTA	TCGA-BP-5176-01A-01D-1429-08	3353828	154254886	26660374	33	23307											
ZNF354C	30832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178506605	178506605	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:178506605G>A	ENST00000315475.6	+	5	1478	c.1172G>A	c.(1171-1173)aGa>aAa	p.R391K		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R391K(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GAATGTGGGAGAACCTTCACA	0.428																																																1	Substitution - Missense(1)	kidney(1)											135	125	128					5																	178506605		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1172G>A	5.37:g.178506605G>A	ENSP00000324064:p.Arg391Lys		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	6.247	0.413659	0.11812	.	.	ENSG00000177932	ENST00000315475	T	0.07114	3.22	4.04	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02193	0.0068	N	0.01417	-0.88	0.32127	N	0.587265	B	0.20671	0.047	B	0.23852	0.049	T	0.37197	-0.9716	9	0.02654	T	1	-19.3226	5.4894	0.16767	0.2211:0.0:0.7789:0.0	.	391	Q86Y25	Z354C_HUMAN	K	391	ENSP00000324064:R391K	ENSP00000324064:R391K	R	+	2	0	ZNF354C	178439211	0.969000	0.33509	1.000000	0.80357	0.978000	0.69477	1.574000	0.36482	2.226000	0.72624	0.591000	0.81541	AGA		0.428	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			A	178506605	G	A	178506605	3	1	426	1	0	0	0	0	1	0	0	0	17871	942	33	2	1186	2	ZNF354C	5	178506605	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	24251719	178506605	2408655	34	23308											
BTNL9	153579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180483000	180483001	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:180483000_180483001GC>TG	ENST00000327705.9	+	9	1171_1172	c.940_941GC>TG	c.(940-942)GCt>TGt	p.A314C	BTNL9_ENST00000376842.3_Missense_Mutation_p.A315C|BTNL9_ENST00000376841.2_Missense_Mutation_p.A314C	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	314	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.A314>?(1)|p.A314G(1)|p.A314S(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGAGACGGGCTGAAGGCCAG	0.53																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	153579			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	Exception_encountered	5.37:g.180483000_180483001delinsTG	ENSP00000330200:p.Ala314Cys		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2																																																																																				0.53	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		TG	180483001	GC	TG	180483000	3	4	426	1	0	0	0	0	1	0	0	0	1570	1203	42	4	970	4	BTNL9	5	180483000	Missense_Mutation	DNP	GC	TCGA-BP-5176-01A-01D-1429-08	1976395	180483000	432260	35	23309											
ABCF1	23	hgsc.bcm.edu	37	6	30558477	30558478	+	Stop_Codon_Ins	INS	-	-	A	rs76018112|rs548415581	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:30558477_30558478insA	ENST00000326195.8	+	0	2649_2650				ABCF1_ENST00000376545.3_Stop_Codon_Ins|ABCF1_ENST00000396515.4_Stop_Codon_Ins	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1						inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CCCCGAGAGTGAGCTTTCCTTC	0.564													A|A|AA|insertion	3576	0.714058	0.73	0.5937	5008	,	,		19175	0.6736		0.6789	False		,,,				2504	0.8558															0									,	2545,933		984,577,178					,	5.4	1		dbSNP_130	106	4558,2170		1686,1186,492	no	frameshift,frameshift	ABCF1	NM_001090.2,NM_001025091.1	,	2670,1763,670	A1A1,A1R,RR		32.2533,26.8258,30.4037	,	,		7103,3103				SO:0001567	stop_retained_variant	23			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2536dupA	6.37:g.30558478_30558478dupA			A2BF75|O14897|Q69YP6	Frame_Shift_Ins	INS	ENST00000326195.8	37	CCDS34380.1																																																																																				0.564	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			A	30558478	-	A	30558477	7	5	426	1	0	1	1	0	0	0	0	0	65	1285	45	0	2635	0	ABCF1	6	30558477	Stop_Codon_Ins	INS	-	TCGA-BP-5176-01A-01D-1429-08		30558477	140556590	36	23310											
TULP1	7287	broad.mit.edu;hgsc.bcm.edu	37	6	35471404	35471404	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:35471404G>A	ENST00000229771.6	-	13	1334	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	TULP1_ENST00000322263.4_Missense_Mutation_p.R366W	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	419					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R419W(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCATGCGCCGGGGGCCACGG	0.662																																					GBM(55;1027 1091 11115 23439)											1	Substitution - Missense(1)	kidney(1)											21	22	22					6																	35471404		2201	4298	6499	SO:0001583	missense	7287			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1255C>T	6.37:g.35471404G>A	ENSP00000229771:p.Arg419Trp		O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028662	0.75390	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.98313	-4.86;-4.86	5.09	3.26	0.37387	Tubby, C-terminal (4);	0.120124	0.56097	D	0.000038	D	0.99366	0.9777	H	0.99225	4.475	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98563	1.0642	10	0.87932	D	0	-26.0536	13.8854	0.63706	0.0:0.0:0.7218:0.2782	.	366;419	O00294-2;O00294	.;TULP1_HUMAN	W	419;366	ENSP00000229771:R419W;ENSP00000319414:R366W	ENSP00000229771:R419W	R	-	1	2	TULP1	35579382	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	2.120000	0.41968	0.509000	0.28195	-0.448000	0.05591	CGG		0.662	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			A	35471404	G	A	35471404	3	1	426	1	0	0	0	0	1	0	0	0	16778	1115	39	1	385	1	TULP1	6	35471404	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	4912927	35471404	135643663	37	23311											
GPR111	222611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	47650019	47650019	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:47650019C>T	ENST00000296862.1	+	6	1724	c.1724C>T	c.(1723-1725)gCt>gTt	p.A575V	GPR111_ENST00000398742.2_Missense_Mutation_p.A507V|GPR111_ENST00000507065.1_Missense_Mutation_p.A507V			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	575					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A507V(1)|p.A575V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTGGCCATTGCTGCCATCACT	0.517																																																2	Substitution - Missense(2)	kidney(2)											70	71	71					6																	47650019		2076	4213	6289	SO:0001583	missense	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1724C>T	6.37:g.47650019C>T	ENSP00000296862:p.Ala575Val		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37		.	.	.	.	.	.	.	.	.	.	C	19.47	3.833453	0.71258	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.29142	1.58;1.58;1.58	5.52	5.52	0.82312	GPCR, family 2-like (1);	0.096990	0.45361	D	0.000370	T	0.28632	0.0709	N	0.25992	0.78	0.46416	D	0.999035	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.02567	-1.1140	10	0.09338	T	0.73	.	18.4157	0.90568	0.0:1.0:0.0:0.0	.	507;575	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	V	507;575;507	ENSP00000422934:A507V;ENSP00000296862:A575V;ENSP00000381727:A507V	ENSP00000296862:A575V	A	+	2	0	GPR111	47757978	1.000000	0.71417	0.960000	0.40013	0.239000	0.25481	6.042000	0.70996	2.592000	0.87571	0.655000	0.94253	GCT		0.517	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		T	47650019	C	T	47650019	3	4	426	1	0	0	0	0	1	0	0	0	6630	797	28	2	1538	2	GPR111	6	47650019	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	12178615	47650019	123465048	38	23312											
PM20D2	135293	hgsc.bcm.edu	37	6	89855893	89855893	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:89855893A>C	ENST00000275072.4	+	1	125	c.30A>C	c.(28-30)gaA>gaC	p.E10D		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	10						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GGCCCGTGGAAGGGGGCGCGT	0.756																																																0													6	7	7					6																	89855893		1893	3883	5776	SO:0001583	missense	135293			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"&#946;-alanyl-lysine dipeptidase"	615913	"aminoacylase 1-like 2"	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.30A>C	6.37:g.89855893A>C	ENSP00000275072:p.Glu10Asp		B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	a	12.23	1.875984	0.33162	.	.	ENSG00000146281	ENST00000275072	T	0.44083	0.93	4.43	-5.07	0.02938	.	1.073720	0.07330	N	0.879103	T	0.08670	0.0215	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.25572	-1.0128	10	0.31617	T	0.26	0.0893	3.4267	0.07413	0.2791:0.3895:0.2383:0.0931	.	10	Q8IYS1	P20D2_HUMAN	D	10	ENSP00000275072:E10D	ENSP00000275072:E10D	E	+	3	2	PM20D2	89912612	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	-0.054000	0.11826	-1.012000	0.03387	-0.433000	0.05886	GAA		0.756	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		C	89855893	A	C	89855893	3	2	426	1	0	0	0	0	1	0	0	0	12131	69	3	5	32	5	PM20D2	6	89855893	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08	42205874	89855893	81259174	39	23313											
UTRN	7402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	144768773	144768773	+	Silent	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:144768773A>T	ENST00000367545.3	+	15	1758	c.1758A>T	c.(1756-1758)acA>acT	p.T586T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	586	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.T586T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCGTCAAACATTGGATCAGC	0.393																																																1	Substitution - coding silent(1)	kidney(1)											129	125	126					6																	144768773		2203	4300	6503	SO:0001819	synonymous_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1758A>T	6.37:g.144768773A>T			Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	CCDS34547.1																																																																																				0.393	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			T	144768773	A	T	144768773	2	4	426	1	0	0	0	0	0	0	0	1	17108	204	8	5		5	UTRN	6	144768773	Silent	SNP	A	TCGA-BP-5176-01A-01D-1429-08	54912880	144768773	26346294	40	23314											
SERAC1	84947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	158541585	158541585	+	Silent	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:158541585T>C	ENST00000367104.3	-	11	1169	c.1038A>G	c.(1036-1038)gaA>gaG	p.E346E	SERAC1_ENST00000367102.2_Silent_p.E346E|SERAC1_ENST00000367101.1_Silent_p.E346E	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	346					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)	p.E346E(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATTTCATTGCTTCTGCCATGA	0.448																																																1	Substitution - coding silent(1)	kidney(1)											116	106	109					6																	158541585		2203	4300	6503	SO:0001819	synonymous_variant	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1038A>G	6.37:g.158541585T>C			Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	CCDS5255.1																																																																																				0.448	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		C	158541585	T	C	158541585	2	2	426	1	0	0	0	0	0	0	0	1	14080	1606	56	3		3	SERAC1	6	158541585	Silent	SNP	T	TCGA-BP-5176-01A-01D-1429-08	13772812	158541585	12573482	41	23315											
TBL2	26608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	72985071	72985071	+	Silent	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr7:72985071C>A	ENST00000305632.5	-	7	1351	c.1110G>T	c.(1108-1110)cgG>cgT	p.R370R	TBL2_ENST00000432538.1_Silent_p.R334R|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	370							poly(A) RNA binding (GO:0044822)	p.R370R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCCATGGACCCGCTCAAAGC	0.607																																																1	Substitution - coding silent(1)	kidney(1)											77	81	80					7																	72985071		2203	4300	6503	SO:0001819	synonymous_variant	26608			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.1110G>T	7.37:g.72985071C>A			Q9UQE2	Silent	SNP	ENST00000305632.5	37	CCDS5551.1																																																																																				0.607	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		A	72985071	C	A	72985071	2	1	426	1	0	0	0	0	0	0	0	1	15647	610	22	4		4	TBL2	7	72985071	Silent	SNP	C	TCGA-BP-5176-01A-01D-1429-08		72985071	86153592	42	23316											
HGF	3082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	81346622	81346622	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr7:81346622T>G	ENST00000222390.5	-	11	1557	c.1331A>C	c.(1330-1332)gAt>gCt	p.D444A	HGF_ENST00000457544.2_Missense_Mutation_p.D439A	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	444	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.D444A(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGCATCATCATCTGGATTTCG	0.448																																																1	Substitution - Missense(1)	kidney(1)											261	196	218					7																	81346622		2203	4300	6503	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1331A>C	7.37:g.81346622T>G	ENSP00000222390:p.Asp444Ala		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285563	0.80803	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.73363	-0.74;-0.74	6.02	6.02	0.97574	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88224	0.6379	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90055	0.4152	10	0.87932	D	0	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	439;444	P14210-3;P14210	.;HGF_HUMAN	A	444;439	ENSP00000222390:D444A;ENSP00000391238:D439A	ENSP00000222390:D444A	D	-	2	0	HGF	81184558	1.000000	0.71417	0.999000	0.59377	0.821000	0.46438	6.904000	0.75708	2.299000	0.77371	0.528000	0.53228	GAT		0.448	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		G	81346622	T	G	81346622	3	3	426	1	0	0	0	0	1	0	0	0	7087	1435	50	5	887	5	HGF	7	81346622	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	8361551	81346622	77792041	43	23317											
KCND2	3751	broad.mit.edu;ucsc.edu	37	7	119914961	119914961	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr7:119914961T>C	ENST00000331113.4	+	1	1240	c.275T>C	c.(274-276)tTc>tCc	p.F92S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	92					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.F92S(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCAGACATCTTCCGCCACATC	0.512																																																1	Substitution - Missense(1)	kidney(1)											136	139	138					7																	119914961		2203	4300	6503	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.275T>C	7.37:g.119914961T>C	ENSP00000333496:p.Phe92Ser		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.340712	0.81911	.	.	ENSG00000184408	ENST00000331113	T	0.76448	-1.02	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.94278	0.8162	H	0.99881	4.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97127	0.9815	9	.	.	.	.	15.9958	0.80243	0.0:0.0:0.0:1.0	.	92	Q9NZV8	KCND2_HUMAN	S	92	ENSP00000333496:F92S	.	F	+	2	0	KCND2	119702197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.188000	0.69820	0.533000	0.62120	TTC		0.512	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		C	119914961	T	C	119914961	3	2	426	1	0	0	0	0	1	0	0	0	8021	1783	62	3	277	3	KCND2	7	119914961	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	38568339	119914961	39223702	44	23318											
ZNF862	643641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	149559035	149559035	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr7:149559035T>C	ENST00000223210.4	+	7	3031	c.2786T>C	c.(2785-2787)aTt>aCt	p.I929T	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	929					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.I929T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CTGACGGGGATTGAGTACCTC	0.582																																																1	Substitution - Missense(1)	kidney(1)											111	117	115					7																	149559035		2045	4191	6236	SO:0001583	missense	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2786T>C	7.37:g.149559035T>C	ENSP00000223210:p.Ile929Thr		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	T	1.494	-0.553949	0.03996	.	.	ENSG00000106479	ENST00000223210	T	0.01099	5.34	5.39	3.04	0.35103	.	1.039550	0.07652	N	0.932109	T	0.01189	0.0039	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49457	-0.8938	10	0.52906	T	0.07	-16.9606	6.4739	0.22024	0.0:0.1965:0.0:0.8035	.	929	O60290	ZN862_HUMAN	T	929	ENSP00000223210:I929T	ENSP00000223210:I929T	I	+	2	0	ZNF862	149189968	0.000000	0.05858	0.001000	0.08648	0.247000	0.25773	0.401000	0.20948	0.380000	0.24823	0.533000	0.62120	ATT		0.582	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		C	149559035	T	C	149559035	3	2	426	1	0	0	0	0	1	0	0	0	18200	1493	52	3	2812	3	ZNF862	7	149559035	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	29644074	149559035	9579628	45	23319											
ABP1	26	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150558103	150558103	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr7:150558103C>G	ENST00000493429.1	+	7	2646	c.2062C>G	c.(2062-2064)Cct>Gct	p.P688A	AOC1_ENST00000467291.1_Missense_Mutation_p.P688A|AOC1_ENST00000360937.4_Missense_Mutation_p.P688A|AOC1_ENST00000416793.2_Missense_Mutation_p.P707A|AOC1_ENST00000480582.1_3'UTR			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	688					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.P688A(1)								Amiloride(DB00594)	CACAGCCACACCTGGGAACTC	0.622																																																1	Substitution - Missense(1)	kidney(1)											62	75	70					7																	150558103		2068	4206	6274	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2062C>G	7.37:g.150558103C>G	ENSP00000418614:p.Pro688Ala		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.462852	0.26248	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	5.01	5.01	0.66863	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	L	0.39397	1.21	0.58432	D	0.999999	B;D	0.59767	0.178;0.986	B;P	0.56865	0.129;0.808	T	0.12578	-1.0542	10	0.12103	T	0.63	-64.0508	15.8232	0.78676	0.0:1.0:0.0:0.0	.	707;688	C9J690;P19801	.;ABP1_HUMAN	A	688;688;688;707;564	ENSP00000418614:P688A;ENSP00000418328:P688A;ENSP00000354193:P688A;ENSP00000411613:P707A	ENSP00000354193:P688A	P	+	1	0	ABP1	150189036	0.000000	0.05858	0.826000	0.32828	0.985000	0.73830	1.078000	0.30754	2.323000	0.78572	0.484000	0.47621	CCT		0.622	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		G	150558103	C	G	150558103	3	3	426	1	0	0	0	0	1	0	0	0	98	507	18	4	2076	4	ABP1	7	150558103	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	999068	150558103	8580560	46	23320											
MYOM2	9172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	2020501	2020501	+	Silent	SNP	G	G	A	rs137913055		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:2020501G>A	ENST00000262113.4	+	9	1011	c.870G>A	c.(868-870)agG>agA	p.R290R	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	290	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R290R(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTTCAGGAGGGAAGGCGAGA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											87	72	77					8																	2020501		2203	4300	6503	SO:0001819	synonymous_variant	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.870G>A	8.37:g.2020501G>A			Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.587	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		A	2020501	G	A	2020501	2	1	426	1	0	0	0	0	0	0	0	1	10094	1223	43	2		2	MYOM2	8	2020501	Silent	SNP	G	TCGA-BP-5176-01A-01D-1429-08		2020501	144343521	47	23321											
EBF2	64641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	25744310	25744310	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:25744310G>C	ENST00000520164.1	-	10	1507	c.970C>G	c.(970-972)Cag>Gag	p.Q324E	EBF2_ENST00000535548.1_Missense_Mutation_p.Q55E|EBF2_ENST00000408929.3_Missense_Mutation_p.Q176E	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	324	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q324E(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGCAGAACTGTTTAGATTTA	0.488																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											2	Substitution - Missense(2)	kidney(2)											101	98	99					8																	25744310		1872	4110	5982	SO:0001583	missense	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.970C>G	8.37:g.25744310G>C	ENSP00000430241:p.Gln324Glu		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826047	0.90955	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.76448	-1.02;-1.02;1.04	5.58	5.58	0.84498	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	M	0.69358	2.11	0.80722	D	1	P	0.44044	0.825	P	0.47645	0.553	D	0.83658	0.0159	10	0.59425	D	0.04	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	324	Q9HAK2	COE2_HUMAN	E	324;176;55	ENSP00000430241:Q324E;ENSP00000386178:Q176E;ENSP00000437909:Q55E	ENSP00000386178:Q176E	Q	-	1	0	EBF2	25800227	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.641000	0.89580	0.563000	0.77884	CAG		0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		C	25744310	G	C	25744310	3	2	426	1	0	0	0	0	1	0	0	0	4883	1386	48	4	785	4	EBF2	8	25744310	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	23723809	25744310	120619712	48	23322											
ZNF703	80139	broad.mit.edu;hgsc.bcm.edu	37	8	37556057	37556057	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:37556057C>A	ENST00000331569.4	+	2	1867	c.1638C>A	c.(1636-1638)caC>caA	p.H546Q		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	546					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.H546Q(1)	FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GCCGGTACCACCCCTATGGCA	0.682																																																1	Substitution - Missense(1)	kidney(1)											19	19	19					8																	37556057		2200	4295	6495	SO:0001583	missense	80139			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1638C>A	8.37:g.37556057C>A	ENSP00000332325:p.His546Gln		Q5XG76	Missense_Mutation	SNP	ENST00000331569.4	37	CCDS6094.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829110	0.50845	.	.	ENSG00000183779	ENST00000331569;ENST00000397235	T	0.74947	-0.89	3.7	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.81192	0.4771	M	0.68317	2.08	0.53688	D	0.999978	D	0.71674	0.998	D	0.73708	0.981	T	0.79933	-0.1594	10	0.87932	D	0	-12.4579	6.7268	0.23361	0.0:0.7065:0.0:0.2935	.	546	Q9H7S9	ZN703_HUMAN	Q	546;119	ENSP00000332325:H546Q	ENSP00000332325:H546Q	H	+	3	2	ZNF703	37675215	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.886000	0.28241	0.757000	0.33036	0.313000	0.20887	CAC		0.682	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		A	37556057	C	A	37556057	3	1	426	1	0	0	0	0	1	0	0	0	18111	506	18	4	1644	4	ZNF703	8	37556057	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	11811747	37556057	108807965	49	23323											
ADAM2	2515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	39624434	39624434	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:39624434A>C	ENST00000265708.4	-	14	1543	c.1440T>G	c.(1438-1440)aaT>aaG	p.N480K	ADAM2_ENST00000379853.2_Missense_Mutation_p.N354K|ADAM2_ENST00000347580.4_Missense_Mutation_p.N461K|ADAM2_ENST00000521880.1_Missense_Mutation_p.N480K	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	480	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N480K(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGATCCATTGATTCAGTCCAC	0.403																																																1	Substitution - Missense(1)	kidney(1)											157	147	150					8																	39624434		2203	4300	6503	SO:0001583	missense	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1440T>G	8.37:g.39624434A>C	ENSP00000265708:p.Asn480Lys		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	2.456	-0.325245	0.05350	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.08	-0.0421	0.13865	ADAM, cysteine-rich (2);	.	.	.	.	T	0.26629	0.0651	M	0.74389	2.26	0.09310	N	1	B;P;B;B	0.48089	0.126;0.905;0.049;0.06	B;P;B;B	0.47827	0.145;0.558;0.09;0.145	T	0.13656	-1.0501	8	.	.	.	.	3.7446	0.08542	0.5725:0.1891:0.2385:0.0	.	480;354;461;480	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	K	461;354;480;480	ENSP00000343854:N461K;ENSP00000369182:N354K;ENSP00000265708:N480K;ENSP00000429352:N480K	.	N	-	3	2	ADAM2	39743591	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.995000	0.03712	-0.093000	0.12396	-0.408000	0.06270	AAT		0.403	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		C	39624434	A	C	39624434	3	2	426	1	0	0	0	0	1	0	0	0	241	330	12	5	795	5	ADAM2	8	39624434	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08	2068377	39624434	106739588	50	23324											
C8orf45	157777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67790811	67790811	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:67790811T>A	ENST00000422365.2	+	6	655	c.484T>A	c.(484-486)Ttt>Att	p.F162I	MCMDC2_ENST00000313616.5_Missense_Mutation_p.F162I|MCMDC2_ENST00000492775.1_Missense_Mutation_p.F162I|MCMDC2_ENST00000396592.3_Missense_Mutation_p.F162I|MCMDC2_ENST00000541540.1_Missense_Mutation_p.F99I|MCMDC2_ENST00000469823.1_3'UTR	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	162					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.F162I(2)|p.F157I(1)		endometrium(2)|kidney(2)|lung(5)	9						TCTTTCAGGATTTCAGTATAT	0.303																																																3	Substitution - Missense(3)	kidney(3)											122	125	124					8																	67790811		2203	4298	6501	SO:0001583	missense	0			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.484T>A	8.37:g.67790811T>A	ENSP00000413632:p.Phe162Ile		B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892884	0.91889	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.27104	3.77;3.77;3.77;3.77;1.69	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	M	0.64997	1.995	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.85130	0.997;0.994;0.994;0.997	T	0.31392	-0.9945	10	0.17369	T	0.5	-18.1314	15.3374	0.74269	0.0:0.0:0.0:1.0	.	99;162;162;162	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	I	34;162;162;162;162;99	ENSP00000379837:F162I;ENSP00000413632:F162I;ENSP00000428037:F162I;ENSP00000317234:F162I;ENSP00000445629:F99I	ENSP00000317234:F162I	F	+	1	0	C8orf45	67953365	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.323000	0.79105	2.017000	0.59298	0.482000	0.46254	TTT		0.303	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		A	67790811	T	A	67790811	3	1	426	1	0	0	0	0	1	0	0	0	2432	1493	52	5	502	5	C8orf45	8	67790811	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	28166377	67790811	78573211	51	23325											
PEX2	5828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	77896064	77896064	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:77896064T>A	ENST00000419564.2	-	4	815	c.351A>T	c.(349-351)gaA>gaT	p.E117D	PEX2_ENST00000522527.1_Missense_Mutation_p.E117D|PEX2_ENST00000520103.1_Missense_Mutation_p.E117D|PEX2_ENST00000357039.4_Missense_Mutation_p.E117D	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	117					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)	p.E117D(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						AGCATCGTTCTTCTAACCACC	0.378																																																1	Substitution - Missense(1)	kidney(1)											78	73	75					8																	77896064		2203	4300	6503	SO:0001583	missense	5828			M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"RING-type (C3HC4) zinc fingers"	9717	protein-coding gene	gene with protein product	"Zellweger syndrome", "peroxin 2"	170993	"peroxisomal membrane protein 3 (35kD, Zellweger syndrome)", "peroxisomal membrane protein 3, 35kDa"	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.351A>T	8.37:g.77896064T>A	ENSP00000400984:p.Glu117Asp		Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141302	0.57044	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527;ENST00000518986	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.19	1.53	0.23141	Pex, N-terminal (1);	0.202182	0.48286	D	0.000195	T	0.78253	0.4254	L	0.48362	1.52	0.43255	D	0.995188	P	0.47545	0.897	P	0.45946	0.498	T	0.73129	-0.4080	10	0.42905	T	0.14	-20.8953	9.3725	0.38264	0.0:0.3599:0.0:0.6401	.	117	P28328	PEX2_HUMAN	D	117	ENSP00000349543:E117D;ENSP00000400984:E117D;ENSP00000428590:E117D;ENSP00000428638:E117D;ENSP00000429304:E117D	ENSP00000349543:E117D	E	-	3	2	PEX2	78058619	0.939000	0.31865	0.989000	0.46669	0.971000	0.66376	-0.001000	0.12947	0.121000	0.18284	0.456000	0.33151	GAA		0.378	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		A	77896064	T	A	77896064	3	1	426	1	0	0	0	0	1	0	0	0	11747	1606	56	5	570	5	PEX2	8	77896064	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	10105253	77896064	68467958	52	23326											
EPPK1	83481	hgsc.bcm.edu	37	8	144940723	144940725	+	In_Frame_Del	DEL	GGC	GGC	-	rs535733157|rs201442886		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:144940723_144940725delGGC	ENST00000525985.1	-	2	6768_6770	c.6697_6699delGCC	c.(6697-6699)gccdel	p.A2233del				P58107	EPIPL_HUMAN	epiplakin 1	2233						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGGTCCTTGGCGGGCACCAGG	0.695																																																0										0,4148		0,0,2074						-1.4	0			67	18,8064		0,18,4023	no	coding	EPPK1	NM_031308.1		0,18,6097	A1A1,A1R,RR		0.2227,0.0,0.1472				18,12212				SO:0001651	inframe_deletion	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6697_6699delGCC	8.37:g.144940723_144940725delGGC	ENSP00000436337:p.Ala2233del		Q76E58|Q9NSU9	In_Frame_Del	DEL	ENST00000525985.1	37																																																																																					0.695	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		-	144940725	GGC	-	144940723	7	5	426	1	0	1	0	1	0	0	0	0	5192	1335	47	0	567	0	EPPK1	8	144940723	In_Frame_Del	DEL	GGC	TCGA-BP-5176-01A-01D-1429-08	67044659	144940723	1423299	53	23327											
IFNA21	3452	broad.mit.edu	37	9	21166125	21166125	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:21166125C>A	ENST00000380225.1	-	1	534	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	163					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.A163S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACCTCCCAGGCACAAGGGCTG	0.413																																																1	Substitution - Missense(1)	kidney(1)											212	213	213					9																	21166125		2203	4298	6501	SO:0001583	missense	3452				CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"Interferons"	5424	protein-coding gene	gene with protein product	"leukocyte interferon protein"	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.487G>T	9.37:g.21166125C>A	ENSP00000369574:p.Ala163Ser		Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	20.4	3.990299	0.74589	.	.	ENSG00000137080	ENST00000380225	T	0.17528	2.27	4.02	4.02	0.46733	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.126331	0.52532	D	0.000075	T	0.54127	0.1839	M	0.93638	3.44	0.33547	D	0.595677	B	0.31125	0.309	P	0.58928	0.848	T	0.69323	-0.5175	10	0.72032	D	0.01	.	13.2705	0.60157	0.0:1.0:0.0:0.0	.	163	P01568	IFN21_HUMAN	S	163	ENSP00000369574:A163S	ENSP00000369574:A163S	A	-	1	0	IFNA21	21156125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.876000	0.39588	2.080000	0.62538	0.644000	0.83932	GCC		0.413	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		A	21166125	C	A	21166125	3	1	426	1	0	0	0	0	1	0	0	0	7540	710	25	4	86	4	IFNA21	9	21166125	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08		21166125	120047306	54	23328											
UNC13B	10497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35396577	35396577	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:35396577G>C	ENST00000378495.3	+	26	3388	c.3166G>C	c.(3166-3168)Ggg>Cgg	p.G1056R	UNC13B_ENST00000378496.4_Missense_Mutation_p.G1056R|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Missense_Mutation_p.G1068R	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1056	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.G1056R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGTCCTCCAGGGGCAGGTGCC	0.547																																																1	Substitution - Missense(1)	kidney(1)											95	83	87					9																	35396577		2203	4300	6503	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3166G>C	9.37:g.35396577G>C	ENSP00000367756:p.Gly1056Arg		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314887	0.60524	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.84516	-1.74;-1.66;-1.86	5.66	4.76	0.60689	Munc13 homology 1 (1);	0.308460	0.39909	N	0.001222	D	0.88415	0.6430	L	0.50333	1.59	0.58432	D	0.999999	D;P	0.64830	0.994;0.883	P;B	0.60682	0.878;0.381	D	0.88936	0.3376	10	0.66056	D	0.02	-20.5587	14.0282	0.64599	0.0721:0.0:0.9279:0.0	.	1056;1056	F8W8M9;O14795	.;UN13B_HUMAN	R	1068;1056;1056;643	ENSP00000380006:G1068R;ENSP00000367756:G1056R;ENSP00000367757:G1056R	ENSP00000367756:G1056R	G	+	1	0	UNC13B	35386577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.160000	0.50739	2.662000	0.90505	0.557000	0.71058	GGG		0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		C	35396577	G	C	35396577	3	2	426	1	0	0	0	0	1	0	0	0	16990	1232	43	4	3268	4	UNC13B	9	35396577	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	14230452	35396577	105816854	55	23329											
FAM166B	730112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35563218	35563218	+	Silent	SNP	T	T	G	rs535237280		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:35563218T>G	ENST00000399742.2	-	2	301	c.231A>C	c.(229-231)ctA>ctC	p.L77L	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	77								p.L77L(2)		kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						GCCTGACAGGTAGACTCTCCC	0.607																																																2	Substitution - coding silent(2)	kidney(2)											134	138	137					9																	35563218		2092	4218	6310	SO:0001819	synonymous_variant	730112			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.231A>C	9.37:g.35563218T>G			A1L3B2|B7ZBJ0	Silent	SNP	ENST00000399742.2	37	CCDS56572.1																																																																																				0.607	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		G	35563218	T	G	35563218	2	3	426	1	0	0	0	0	0	0	0	1	5484	1625	57	5		5	FAM166B	9	35563218	Silent	SNP	T	TCGA-BP-5176-01A-01D-1429-08	166641	35563218	105650213	56	23330	174	2									
FAM166B	730112	broad.mit.edu;ucsc.edu	37	9	35563221	35563221	+	Silent	SNP	A	A	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:35563221A>G	ENST00000399742.2	-	2	298	c.228T>C	c.(226-228)agT>agC	p.S76S	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	76								p.S76S(2)		kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TGACAGGTAGACTCTCCCTGG	0.612																																																2	Substitution - coding silent(2)	kidney(2)											133	138	136					9																	35563221		2086	4215	6301	SO:0001819	synonymous_variant	730112			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.228T>C	9.37:g.35563221A>G			A1L3B2|B7ZBJ0	Silent	SNP	ENST00000399742.2	37	CCDS56572.1																																																																																				0.612	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		G	35563221	A	G	35563221	2	3	426	1	0	0	0	0	0	0	0	1	5484	272	10	3		3	FAM166B	9	35563221	Silent	SNP	A	TCGA-BP-5176-01A-01D-1429-08	3	35563221	105650210	57	23331	174	2									
ZNF658	26149	broad.mit.edu	37	9	40772272	40772272	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:40772272delT	ENST00000602553.1	-	5	3297	c.3003delA	c.(3001-3003)aaafs	p.K1001fs	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Frame_Shift_Del_p.K1001fs			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	1001					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGCAAAAGCTTTTCCGCATT	0.433																																																0													38	57	52					9																	40772272		1418	3698	5116	SO:0001589	frameshift_variant	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.3003delA	9.37:g.40772272delT	ENSP00000473484:p.Lys1001fs		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Frame_Shift_Del	DEL	ENST00000602553.1	37	CCDS35023.1																																																																																				0.433	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		-	40772272	T	-	40772272	7	5	426	1	0	1	0	1	0	0	0	0	18074	1606	56	0	180	0	ZNF658	9	40772272	Frame_Shift_Del	DEL	T	TCGA-BP-5176-01A-01D-1429-08	5209051	40772272	100441159	58	23332											
C9orf125	84302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104238257	104238257	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:104238257T>A	ENST00000374851.1	-	4	2265	c.1118A>T	c.(1117-1119)aAg>aTg	p.K373M	TMEM246_ENST00000374848.3_Missense_Mutation_p.K373M|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.K373M|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	373						integral component of membrane (GO:0016021)		p.K373M(1)									CCTCTCTCCCTTGGCCCTCAA	0.602																																																1	Substitution - Missense(1)	kidney(1)											87	79	82					9																	104238257		2203	4300	6503	SO:0001583	missense	0			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1118A>T	9.37:g.104238257T>A	ENSP00000363984:p.Lys373Met		Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349779	0.61183	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.55	5.55	0.83447	.	0.173838	0.49916	D	0.000133	T	0.60495	0.2273	L	0.47716	1.5	0.43317	D	0.995331	D	0.53151	0.958	P	0.54026	0.74	T	0.62623	-0.6815	9	0.52906	T	0.07	-26.9278	9.3921	0.38378	0.0:0.0791:0.0:0.9209	.	373	Q9BRR3	CI125_HUMAN	M	373	.	ENSP00000363980:K373M	K	-	2	0	C9orf125	103278078	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.134000	0.64770	2.118000	0.64928	0.460000	0.39030	AAG		0.602	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		A	104238257	T	A	104238257	3	1	426	1	0	0	0	0	1	0	0	0	2456	1609	56	5	97	5	C9orf125	9	104238257	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	63465985	104238257	36975174	59	23333											
SEC16A	9919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139360547	139360547	+	Nonsense_Mutation	SNP	G	G	T	rs375846646	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:139360547G>T	ENST00000371706.3	-	6	3669	c.3636C>A	c.(3634-3636)taC>taA	p.Y1212*	SEC16A_ENST00000431893.2_Nonsense_Mutation_p.Y1212*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.Y1212*|SEC16A_ENST00000313050.7_Nonsense_Mutation_p.Y1390*			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1212	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Y1390*(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCGGGGCCTCGTAGGAACCGG	0.532																																																2	Substitution - Nonsense(2)	kidney(2)											40	50	46					9																	139360547		2014	4186	6200	SO:0001587	stop_gained	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3636C>A	9.37:g.139360547G>T	ENSP00000360771:p.Tyr1212*		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	G	39	7.828355	0.98513	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	.	.	.	5.52	-4.57	0.03421	.	0.189951	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1767	16.389	0.83525	0.8744:0.0:0.1256:0.0	.	.	.	.	X	1390;112;1212;1212;1212;780;314	.	ENSP00000290037:Y1212X	Y	-	3	2	SEC16A	138480368	0.929000	0.31497	0.318000	0.25279	0.435000	0.31806	-0.082000	0.11304	-1.004000	0.03421	-0.150000	0.13652	TAC		0.532	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		T	139360547	G	T	139360547	4	4	426	1	0	0	0	0	0	1	0	0	13992	1140	40	4	3003	4	SEC16A	9	139360547	Nonsense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	35122290	139360547	1852884	60	23334											
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	16979763	16979763	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr10:16979763A>C	ENST00000377833.4	-	39	5819	c.5754T>G	c.(5752-5754)atT>atG	p.I1918M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1918	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.I1918M(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCGGGCGTGAATGCTAGGCC	0.348																																																1	Substitution - Missense(1)	kidney(1)											58	61	60					10																	16979763		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5754T>G	10.37:g.16979763A>C	ENSP00000367064:p.Ile1918Met		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.596973	0.28445	.	.	ENSG00000107611	ENST00000377833	T	0.17691	2.26	5.14	2.75	0.32379	CUB (5);	0.615629	0.13370	N	0.393014	T	0.24236	0.0587	L	0.52011	1.625	0.80722	D	1	P	0.48016	0.904	P	0.55615	0.78	T	0.07009	-1.0795	10	0.46703	T	0.11	.	3.6059	0.08042	0.6538:0.139:0.0738:0.1334	.	1918	O60494	CUBN_HUMAN	M	1918	ENSP00000367064:I1918M	ENSP00000367064:I1918M	I	-	3	3	CUBN	17019769	0.178000	0.23122	0.300000	0.25030	0.126000	0.20510	0.676000	0.25247	0.864000	0.35578	0.482000	0.46254	ATT		0.348	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	16979763	A	C	16979763	3	2	426	1	0	0	0	0	1	0	0	0	4053	242	9	5	5233	5	CUBN	10	16979763	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08		16979763	118554984	61	23335											
NSUN6	221078	hgsc.bcm.edu;ucsc.edu	37	10	18874976	18874977	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr10:18874976_18874977insT	ENST00000377304.4	-	8	1241_1242	c.823_824insA	c.(823-825)atcfs	p.I275fs		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	275							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						ATTCTGTTTGATTTTTTCTACT	0.342																																																0																																										SO:0001589	frameshift_variant	221078			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.824dupA	10.37:g.18874982_18874982dupT	ENSP00000366519:p.Ile275fs		B0YJ54	Frame_Shift_Ins	INS	ENST00000377304.4	37	CCDS7130.1																																																																																				0.342	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		T	18874977	-	T	18874976	7	5	426	1	0	1	1	0	0	0	0	0	10684	333	12	0	601	0	NSUN6	10	18874976	Frame_Shift_Ins	INS	-	TCGA-BP-5176-01A-01D-1429-08	1895213	18874976	116659771	62	23336											
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61829377	61829377	+	Silent	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr10:61829377T>C	ENST00000280772.2	-	37	11453	c.11262A>G	c.(11260-11262)ggA>ggG	p.G3754G	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3754					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G3754G(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CATTTTCTAATCCCTGACAAC	0.368																																																1	Substitution - coding silent(1)	kidney(1)											130	139	136					10																	61829377		2203	4300	6503	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11262A>G	10.37:g.61829377T>C			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.368	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61829377	T	C	61829377	2	2	426	1	0	0	0	0	0	0	0	1	622	1422	50	3		3	ANK3	10	61829377	Silent	SNP	T	TCGA-BP-5176-01A-01D-1429-08	42954401	61829377	73705370	63	23337											
GOT1	2805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	101163595	101163595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr10:101163595G>A	ENST00000370508.5	-	6	706	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	GOT1_ENST00000543866.1_Nonsense_Mutation_p.Q206*	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	227					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.Q227E(1)|p.Q227*(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GCGAAGCCCTGATAGGCTGAG	0.542																																					Melanoma(173;770 3544 21601)											2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(1)|kidney(1)											63	67	66					10																	101163595		2203	4300	6503	SO:0001587	stop_gained	2805			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.679C>T	10.37:g.101163595G>A	ENSP00000359539:p.Gln227*		B2R6R7|B7Z7E9|Q5VW80	Nonsense_Mutation	SNP	ENST00000370508.5	37	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	G	40	8.035063	0.98621	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	.	.	.	5.6	5.6	0.85130	.	0.117523	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.5058	19.6558	0.95837	0.0:0.0:1.0:0.0	.	.	.	.	X	227;180;206	.	ENSP00000359539:Q227X	Q	-	1	0	GOT1	101153585	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.869000	0.99810	2.647000	0.89833	0.558000	0.71614	CAG		0.542	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		A	101163595	G	A	101163595	4	1	426	1	0	0	0	0	0	1	0	0	6581	1299	45	2	578	2	GOT1	10	101163595	Nonsense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	39334218	101163595	34371152	64	23338											
TH	7054	hgsc.bcm.edu;ucsc.edu	37	11	2185540	2185540	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:2185540delG	ENST00000381178.1	-	14	1528	c.1510delC	c.(1510-1512)cagfs	p.Q504fs	TH_ENST00000381175.1_Frame_Shift_Del_p.Q500fs|INS_ENST00000381330.4_5'Flank|TH_ENST00000333684.5_Frame_Shift_Del_p.Q383fs|TH_ENST00000352909.3_Frame_Shift_Del_p.Q473fs	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	504					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CGCACGGCCTGGGGGCTGTCC	0.677																																																0													59	52	55					11																	2185540		2200	4297	6497	SO:0001589	frameshift_variant	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1510delC	11.37:g.2185540delG	ENSP00000370571:p.Gln504fs		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Frame_Shift_Del	DEL	ENST00000381178.1	37	CCDS7731.1																																																																																				0.677	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		-	2185540	G	-	2185540	7	5	426	1	0	1	0	1	0	0	0	0	15843	1357	47	0	80	0	TH	11	2185540	Frame_Shift_Del	DEL	G	TCGA-BP-5176-01A-01D-1429-08		2185540	132820976	65	23339											
STK33	65975	hgsc.bcm.edu	37	11	8414087	8414088	+	In_Frame_Ins	INS	-	-	CCAGAA			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:8414087_8414088insCCAGAA	ENST00000447869.1	-	12	2432_2433	c.1514_1515insTTCTGG	c.(1513-1515)ggc>ggTTCTGGc	p.505_505G>GSG	STK33_ENST00000396672.1_In_Frame_Ins_p.505_505G>GSG|STK33_ENST00000534493.1_In_Frame_Ins_p.464_464G>GSG|STK33_ENST00000358872.3_In_Frame_Ins_p.318_318G>GSG|STK33_ENST00000315204.1_In_Frame_Ins_p.505_505G>GSG|STK33_ENST00000396673.1_In_Frame_Ins_p.439_439G>GSG|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	505					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGGACAGGGCGCCGGATTTAGC	0.48																																																0										26,4238		0,26,2106						-0.2	0			208	143,8111		0,143,3984	no	coding	STK33	NM_030906.2		0,169,6090	A1A1,A1R,RR		1.7325,0.6098,1.3501				169,12349				SO:0001652	inframe_insertion	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1514_1515insTTCTGG	11.37:g.8414087_8414088insCCAGAA	ENSP00000416750:p.SerGly505dup		Q658S6|Q8NEF5	In_Frame_Ins	INS	ENST00000447869.1	37	CCDS7789.1																																																																																				0.48	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		CCAGAA	8414088	-	CCAGAA	8414087	7	5	426	1	0	1	1	0	0	0	0	0	15305	1074	38	0	33	0	STK33	11	8414087	In_Frame_Ins	INS	-	TCGA-BP-5176-01A-01D-1429-08	6228547	8414087	126592429	66	23340											
C11orf46	120534	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	30352900	30352900	+	Silent	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:30352900G>A	ENST00000282032.3	+	2	620	c.405G>A	c.(403-405)caG>caA	p.Q135Q		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	135						cytoplasm (GO:0005737)		p.Q135Q(1)									AAGACCGCCAGAAAAGGAAAC	0.358																																																1	Substitution - coding silent(1)	kidney(1)											107	111	110					11																	30352900		2202	4299	6501	SO:0001819	synonymous_variant	0			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"chromosome 11 open reading frame 46"	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.405G>A	11.37:g.30352900G>A			Q5HYH9	Silent	SNP	ENST00000282032.3	37	CCDS7869.1																																																																																				0.358	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		A	30352900	G	A	30352900	2	1	426	1	0	0	0	0	0	0	0	1	1645	933	33	2		2	C11orf46	11	30352900	Silent	SNP	G	TCGA-BP-5176-01A-01D-1429-08	21938813	30352900	104653616	67	23341											
NPAS4	266743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66191067	66191067	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:66191067T>G	ENST00000311034.2	+	6	1003	c.827T>G	c.(826-828)aTt>aGt	p.I276S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	276					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.I276S(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGTGGAGATATTCAGGCAGAG	0.532																																																1	Substitution - Missense(1)	kidney(1)											89	79	82					11																	66191067		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.827T>G	11.37:g.66191067T>G	ENSP00000311196:p.Ile276Ser		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	T	4.781	0.145248	0.09134	.	.	ENSG00000174576	ENST00000311034	T	0.17370	2.28	5.0	3.85	0.44370	PAS fold-3 (1);	0.237105	0.30185	N	0.010201	T	0.05227	0.0139	N	0.03608	-0.345	0.35760	D	0.820099	B	0.14012	0.009	B	0.16289	0.015	T	0.28713	-1.0035	10	0.07030	T	0.85	-8.0585	4.1186	0.10094	0.0:0.1092:0.2135:0.6773	.	276	Q8IUM7	NPAS4_HUMAN	S	276	ENSP00000311196:I276S	ENSP00000311196:I276S	I	+	2	0	NPAS4	65947643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.228000	0.32588	2.084000	0.62774	0.533000	0.62120	ATT		0.532	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		G	66191067	T	G	66191067	3	3	426	1	0	0	0	0	1	0	0	0	10567	1493	52	5	849	5	NPAS4	11	66191067	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	35838167	66191067	68815449	68	23342											
RNF169	254225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	74546695	74546695	+	Silent	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:74546695A>T	ENST00000299563.4	+	6	1060	c.1047A>T	c.(1045-1047)ctA>ctT	p.L349L		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	349					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)	p.L349L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						AAAAGCGTCTACCCTTCAGCT	0.512																																																1	Substitution - coding silent(1)	kidney(1)											127	130	129					11																	74546695		2026	4184	6210	SO:0001819	synonymous_variant	254225			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1047A>T	11.37:g.74546695A>T			Q6N015	Silent	SNP	ENST00000299563.4	37	CCDS41691.1																																																																																				0.512	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		T	74546695	A	T	74546695	2	4	426	1	0	0	0	0	0	0	0	1	13466	378	14	5		5	RNF169	11	74546695	Silent	SNP	A	TCGA-BP-5176-01A-01D-1429-08	8355628	74546695	60459821	69	23343											
DLAT	1737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111930750	111930750	+	Silent	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:111930750C>G	ENST00000280346.6	+	12	2297	c.1638C>G	c.(1636-1638)acC>acG	p.T546T	DLAT_ENST00000537636.1_Silent_p.T317T|DLAT_ENST00000393051.1_Silent_p.T441T	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	546	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.T546T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CTTTAGCAACCAAAGCAAGAG	0.358																																																1	Substitution - coding silent(1)	kidney(1)											140	121	128					11																	111930750		2201	4297	6498	SO:0001819	synonymous_variant	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1638C>G	11.37:g.111930750C>G			Q16783|Q53EP3	Silent	SNP	ENST00000280346.6	37	CCDS8354.1																																																																																				0.358	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		G	111930750	C	G	111930750	2	3	426	1	0	0	0	0	0	0	0	1	4551	581	21	4		4	DLAT	11	111930750	Silent	SNP	C	TCGA-BP-5176-01A-01D-1429-08	37384055	111930750	23075766	70	23344											
SORL1	6653	hgsc.bcm.edu	37	11	121416109	121416109	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:121416109C>A	ENST00000260197.7	+	14	2151	c.2022C>A	c.(2020-2022)aaC>aaA	p.N674K	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	674					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.N674K(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCGTGTCCAACTGCTCCTGCA	0.522																																																1	Substitution - Missense(1)	kidney(1)											86	76	79					11																	121416109		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2022C>A	11.37:g.121416109C>A	ENSP00000260197:p.Asn674Lys		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884190	0.72410	.	.	ENSG00000137642	ENST00000260197	T	0.35605	1.3	5.63	2.75	0.32379	VPS10 (1);	0.099352	0.64402	D	0.000002	T	0.45736	0.1357	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.48422	-0.9037	10	0.06365	T	0.9	.	10.1272	0.42656	0.0:0.7301:0.0:0.2699	.	674	Q92673	SORL_HUMAN	K	674	ENSP00000260197:N674K	ENSP00000260197:N674K	N	+	3	2	SORL1	120921319	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.150000	0.42254	0.744000	0.32741	-0.137000	0.14449	AAC		0.522	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		A	121416109	C	A	121416109	3	1	426	1	0	0	0	0	1	0	0	0	14940	564	20	4	2076	4	SORL1	11	121416109	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	9485359	121416109	13590407	71	23345											
OR8B12	219858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124413531	124413531	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:124413531G>A	ENST00000306842.2	-	1	44	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S7F(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CTCTGTCACAGAAGAGTTTTT	0.517																																																1	Substitution - Missense(1)	kidney(1)											25	29	28					11																	124413531		2176	4271	6447	SO:0001583	missense	219858				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.20C>T	11.37:g.124413531G>A	ENSP00000307159:p.Ser7Phe		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	G	3.012	-0.203648	0.06180	.	.	ENSG00000170953	ENST00000306842	T	0.54675	0.56	3.89	2.98	0.34508	.	0.000000	0.56097	D	0.000037	T	0.44540	0.1298	L	0.50919	1.6	0.09310	N	1	B	0.17852	0.024	B	0.21151	0.033	T	0.36335	-0.9752	10	0.36615	T	0.2	.	10.3136	0.43723	0.096:0.0:0.904:0.0	.	7	Q8NGG6	OR8BC_HUMAN	F	7	ENSP00000307159:S7F	ENSP00000307159:S7F	S	-	2	0	OR8B12	123918741	0.000000	0.05858	0.029000	0.17559	0.078000	0.17371	0.155000	0.16362	1.222000	0.43521	0.650000	0.86243	TCT		0.517	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			A	124413531	G	A	124413531	3	1	426	1	0	0	0	0	1	0	0	0	11228	942	33	2	914	2	OR8B12	11	124413531	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	2997422	124413531	10592985	72	23346											
NCAPD3	23310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	134029917	134029917	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:134029917T>C	ENST00000534548.2	-	29	3801	c.3737A>G	c.(3736-3738)aAa>aGa	p.K1246R		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1246					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.K1246R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGCCAGCTGTTTGTCAACTGC	0.488																																																1	Substitution - Missense(1)	kidney(1)											139	123	128					11																	134029917		2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3737A>G	11.37:g.134029917T>C	ENSP00000433681:p.Lys1246Arg		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933139	0.34096	.	.	ENSG00000151503	ENST00000534548;ENST00000527944	T	0.25085	1.82	5.36	2.98	0.34508	Armadillo-type fold (1);	0.143011	0.64402	N	0.000006	T	0.14917	0.0360	L	0.28115	0.83	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.004;0.009	T	0.09037	-1.0693	10	0.09084	T	0.74	-17.4543	9.9481	0.41623	0.0:0.1399:0.0:0.8601	.	1246;306	P42695;Q96FA6	CNDD3_HUMAN;.	R	1246;151	ENSP00000433681:K1246R	ENSP00000432532:K151R	K	-	2	0	NCAPD3	133535127	1.000000	0.71417	0.981000	0.43875	0.949000	0.60115	3.500000	0.53318	0.396000	0.25283	0.533000	0.62120	AAA		0.488	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		C	134029917	T	C	134029917	3	2	426	1	0	0	0	0	1	0	0	0	10208	1841	64	3	787	3	NCAPD3	11	134029917	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	9616386	134029917	976599	73	23347											
ETNK1	55500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	22812052	22812052	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:22812052T>A	ENST00000266517.4	+	3	877	c.788T>A	c.(787-789)aTt>aAt	p.I263N		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	263					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.I263N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCTCTCTCATTCCCACAGGA	0.343																																					Esophageal Squamous(42;87 913 3224 6226 43339)											1	Substitution - Missense(1)	kidney(1)											82	79	80					12																	22812052		2203	4300	6503	SO:0001583	missense	55500			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.788T>A	12.37:g.22812052T>A	ENSP00000266517:p.Ile263Asn		G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	CCDS8698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.518187|4.518187	0.85495|0.85495	.|.	.|.	ENSG00000139163|ENSG00000139163	ENST00000538218;ENST00000541247|ENST00000266517;ENST00000381409	.|T	.|0.59083	.|0.29	5.23|5.23	5.23|5.23	0.72850|0.72850	.|Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	.|0.056341	.|0.64402	.|D	.|0.000001	T|T	0.70657|0.70657	0.3249|0.3249	L|L	0.58510|0.58510	1.815|1.815	0.80722|0.80722	D|D	1|1	.|D;P	.|0.63046	.|0.992;0.953	.|D;P	.|0.67900	.|0.954;0.863	T|T	0.73059|0.73059	-0.4102|-0.4102	5|10	.|0.59425	.|D	.|0.04	-14.5496|-14.5496	13.6824|13.6824	0.62493|0.62493	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|263;263	.|E9PD44;Q9HBU6	.|.;EKI1_HUMAN	I|N	254;143|263	.|ENSP00000266517:I263N	.|ENSP00000266517:I263N	F|I	+|+	1|2	0|0	ETNK1|ETNK1	22703319|22703319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.312000|7.312000	0.78968|0.78968	1.987000|1.987000	0.57996|0.57996	0.397000|0.397000	0.26171|0.26171	TTC|ATT		0.343	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		A	22812052	T	A	22812052	3	1	426	1	0	0	0	0	1	0	0	0	5275	1493	52	5	896	5	ETNK1	12	22812052	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08		22812052	111039843	74	23348											
FAM113B	91523	broad.mit.edu;hgsc.bcm.edu	37	12	47629733	47629733	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:47629733C>A	ENST00000546455.1	+	4	1618	c.887C>A	c.(886-888)tCc>tAc	p.S296Y	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.S296Y			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	296	Pro-rich.						hydrolase activity (GO:0016787)	p.S296Y(1)									cccttaccttcccccacatac	0.637																																																1	Substitution - Missense(1)	kidney(1)											25	28	27					12																	47629733		2203	4299	6502	SO:0001583	missense	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.887C>A	12.37:g.47629733C>A	ENSP00000446688:p.Ser296Tyr		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606346	0.28623	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T	0.31769	1.48;1.48	4.38	-0.977	0.10282	.	5.542930	0.00397	N	0.000050	T	0.14614	0.0353	N	0.08118	0	0.09310	N	1	B	0.32283	0.362	B	0.28139	0.086	T	0.08371	-1.0725	10	0.27082	T	0.32	.	4.1104	0.10057	0.0:0.3484:0.3361:0.3156	.	296	Q96HM7	F113B_HUMAN	Y	296;296;176;176	ENSP00000446688:S296Y;ENSP00000396040:S296Y	ENSP00000328560:S176Y	S	+	2	0	FAM113B	45916000	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.305000	0.08188	-0.174000	0.10743	0.655000	0.94253	TCC		0.637	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		A	47629733	C	A	47629733	3	1	426	1	0	0	0	0	1	0	0	0	5404	855	30	4	889	4	FAM113B	12	47629733	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	24817681	47629733	86222162	75	23349											
LRP1	4035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57589705	57589705	+	Missense_Mutation	SNP	C	C	A	rs148336699		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:57589705C>A	ENST00000243077.3	+	54	9086	c.8620C>A	c.(8620-8622)Cgc>Agc	p.R2874S	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2874	LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.R2874S(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTGAGCTCCCGCCAGTGGGA	0.652																																																1	Substitution - Missense(1)	kidney(1)											57	62	60					12																	57589705		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8620C>A	12.37:g.57589705C>A	ENSP00000243077:p.Arg2874Ser		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	8.887	0.953000	0.18431	.	.	ENSG00000123384	ENST00000243077	D	0.89552	-2.53	5.22	5.22	0.72569	.	0.478162	0.18922	N	0.127444	T	0.70727	0.3257	N	0.02011	-0.69	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.67461	-0.5665	10	0.10111	T	0.7	.	11.3138	0.49379	0.2932:0.7068:0.0:0.0	.	2874	Q07954	LRP1_HUMAN	S	2874	ENSP00000243077:R2874S	ENSP00000243077:R2874S	R	+	1	0	LRP1	55875972	0.911000	0.30947	1.000000	0.80357	0.955000	0.61496	1.802000	0.38853	2.434000	0.82447	0.561000	0.74099	CGC		0.652	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57589705	C	A	57589705	3	1	426	1	0	0	0	0	1	0	0	0	8953	652	23	4	8834	4	LRP1	12	57589705	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	9959972	57589705	76262190	76	23350											
NUDT4	11163	broad.mit.edu;hgsc.bcm.edu	37	12	93793101	93793101	+	Silent	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:93793101T>C	ENST00000415493.2	+	5	916	c.489T>C	c.(487-489)aaT>aaC	p.N163N	NUDT4_ENST00000549992.1_Silent_p.N111N|NUDT4_ENST00000337179.5_Silent_p.N164N|NUDT4_ENST00000548662.1_Silent_p.N111N|NUDT4_ENST00000547014.1_Silent_p.N112N	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	163					calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)	p.N164N(1)		endometrium(2)|kidney(1)|lung(2)	5						CGGATAATAATGCCTTGTTTG	0.488																																																1	Substitution - coding silent(1)	kidney(1)											189	192	191					12																	93793101		2203	4300	6503	SO:0001819	synonymous_variant	11163			AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"Nudix motif containing"	8051	protein-coding gene	gene with protein product	"diphosphoinositol polyphosphate phosphohydrolase type 2"	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.489T>C	12.37:g.93793101T>C			B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Silent	SNP	ENST00000415493.2	37	CCDS44952.1																																																																																				0.488	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094		C	93793101	T	C	93793101	2	2	426	1	0	0	0	0	0	0	0	1	10743	1461	51	3		3	NUDT4	12	93793101	Silent	SNP	T	TCGA-BP-5176-01A-01D-1429-08	36203396	93793101	40058794	77	23351											
TPCN1	53373	broad.mit.edu;ucsc.edu	37	12	113727990	113727990	+	Silent	SNP	C	C	A	rs150639944		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:113727990C>A	ENST00000335509.6	+	22	2168	c.1854C>A	c.(1852-1854)acC>acA	p.T618T	TPCN1_ENST00000541517.1_Silent_p.T690T|TPCN1_ENST00000392569.4_Silent_p.T550T|TPCN1_ENST00000550785.1_Silent_p.T690T	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	618					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.T618T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GCAACAGGACCGTGGTGGAGG	0.562																																																1	Substitution - coding silent(1)	kidney(1)											117	88	98					12																	113727990		2203	4300	6503	SO:0001819	synonymous_variant	53373			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1854C>A	12.37:g.113727990C>A			A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	CCDS31908.1																																																																																				0.562	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		A	113727990	C	A	113727990	2	1	426	1	0	0	0	0	0	0	0	1	16400	639	23	4		4	TPCN1	12	113727990	Silent	SNP	C	TCGA-BP-5176-01A-01D-1429-08	19934889	113727990	20123905	78	23352											
NOS1	4842	broad.mit.edu;ucsc.edu	37	12	117665305	117665305	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:117665305T>G	ENST00000338101.4	-	23	3653	c.3649A>C	c.(3649-3651)Agc>Cgc	p.S1217R	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.S1183R			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.S1183R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGGGAGGAGCTGATGGAATAG	0.617																																					Esophageal Squamous(162;1748 2599 51982 52956)											1	Substitution - Missense(1)	kidney(1)											74	87	83					12																	117665305		2101	4230	6331	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3649A>C	12.37:g.117665305T>G	ENSP00000337459:p.Ser1217Arg			Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878918	0.91740	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.52526	0.66;0.66	4.95	4.95	0.65309	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85677	0.1298	10	0.87932	D	0	-40.9531	14.77	0.69668	0.0:0.0:0.0:1.0	.	1183	P29475	NOS1_HUMAN	R	1078;1183;1183;1217	ENSP00000320758:S1183R;ENSP00000337459:S1217R	ENSP00000320758:S1183R	S	-	1	0	NOS1	116149688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.812000	0.86109	2.067000	0.61834	0.482000	0.46254	AGC		0.617	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			G	117665305	T	G	117665305	3	3	426	1	0	0	0	0	1	0	0	0	10543	1580	55	5	785	5	NOS1	12	117665305	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	3937315	117665305	16186590	79	23353											
RNF10	9921	broad.mit.edu;ucsc.edu	37	12	121013684	121013684	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:121013684T>C	ENST00000325954.4	+	16	2751	c.2290T>C	c.(2290-2292)Tcc>Ccc	p.S764P	RNF10_ENST00000413266.2_Missense_Mutation_p.S769P|RNF10_ENST00000542701.1_3'UTR	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	764					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S764P(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTCAAAATTCCTTCAGCCA	0.507																																																1	Substitution - Missense(1)	kidney(1)											184	187	186					12																	121013684		2203	4300	6503	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2290T>C	12.37:g.121013684T>C	ENSP00000322242:p.Ser764Pro		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.025905	0.93518	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000538254	D;D	0.90788	-2.73;-2.73	5.63	5.63	0.86233	.	0.056017	0.64402	D	0.000001	D	0.94604	0.8261	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	D	0.95051	0.8187	10	0.72032	D	0.01	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	769;764	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	P	764;764;769;99	ENSP00000322242:S764P;ENSP00000415682:S769P	ENSP00000322242:S764P	S	+	1	0	RNF10	119498067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.486000	0.81215	2.145000	0.66743	0.533000	0.62120	TCC		0.507	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			C	121013684	T	C	121013684	3	2	426	1	0	0	0	0	1	0	0	0	13428	1783	62	3	2352	3	RNF10	12	121013684	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	3348379	121013684	12838211	80	23354											
AKAP11	11215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42891796	42891796	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr13:42891796A>T	ENST00000025301.2	+	12	5712	c.5537A>T	c.(5536-5538)cAt>cTt	p.H1846L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1846					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.H1846L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTTTATTTTCATGACTCTGCA	0.408																																																1	Substitution - Missense(1)	kidney(1)											101	87	92					13																	42891796		2203	4300	6503	SO:0001583	missense	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5537A>T	13.37:g.42891796A>T	ENSP00000025301:p.His1846Leu		O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909274	0.33721	.	.	ENSG00000023516	ENST00000025301	T	0.13657	2.57	5.79	3.45	0.39498	.	0.331506	0.27027	N	0.021297	T	0.09468	0.0233	L	0.51422	1.61	0.22127	N	0.999343	P	0.38078	0.617	B	0.33960	0.173	T	0.16041	-1.0416	10	0.13853	T	0.58	.	5.6084	0.17392	0.7079:0.0:0.1625:0.1296	.	1846	Q9UKA4	AKA11_HUMAN	L	1846	ENSP00000025301:H1846L	ENSP00000025301:H1846L	H	+	2	0	AKAP11	41789796	0.980000	0.34600	1.000000	0.80357	0.992000	0.81027	1.676000	0.37565	2.200000	0.70718	0.455000	0.32223	CAT		0.408	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		T	42891796	A	T	42891796	3	4	426	1	0	0	0	0	1	0	0	0	447	217	8	5	5575	5	AKAP11	13	42891796	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08		42891796	72278082	81	23355											
PRMT5	10419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23393369	23393369	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:23393369T>A	ENST00000324366.8	-	12	1446	c.1223A>T	c.(1222-1224)gAa>gTa	p.E408V	PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.E391V|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.E302V|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.E347V|PRMT5_ENST00000553897.1_Missense_Mutation_p.E364V|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000553641.1_5'Flank|PRMT5_ENST00000397440.4_Missense_Mutation_p.E237V|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	408	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.E391V(1)|p.E408V(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GCTTCCCCATTCTTCAAACTG	0.468																																																2	Substitution - Missense(2)	kidney(2)											86	78	80					14																	23393369		2203	4300	6503	SO:0001583	missense	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1223A>T	14.37:g.23393369T>A	ENSP00000319169:p.Glu408Val		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404896	0.42613	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000555454;ENST00000538452;ENST00000553897	T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	L	0.58583	1.82	0.80722	D	1	B;B;B;P;B	0.41232	0.371;0.146;0.274;0.743;0.242	B;B;B;B;B	0.34242	0.099;0.105;0.115;0.178;0.159	T	0.03148	-1.1067	10	0.30854	T	0.27	-13.0785	14.467	0.67490	0.0:0.0:0.0:1.0	.	364;347;237;408;391	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	V	408;391;237;347;7;302;364	ENSP00000319169:E408V;ENSP00000380583:E391V;ENSP00000380582:E237V;ENSP00000216350:E347V;ENSP00000451245:E7V;ENSP00000444915:E302V;ENSP00000452555:E364V	ENSP00000216350:E347V	E	-	2	0	PRMT5	22463209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.304000	0.78882	2.250000	0.74265	0.454000	0.30748	GAA		0.468	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			A	23393369	T	A	23393369	3	1	426	1	0	0	0	0	1	0	0	0	12544	1783	62	5	714	5	PRMT5	14	23393369	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08		23393369	83956171	82	23356											
AKAP6	9472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	33292170	33292170	+	Silent	SNP	G	G	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:33292170G>C	ENST00000280979.4	+	13	5321	c.5151G>C	c.(5149-5151)tcG>tcC	p.S1717S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1717					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.S1717S(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGAATGCATCGTTCAGGAAGC	0.468																																					Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - coding silent(1)	kidney(1)											169	144	153					14																	33292170		2203	4300	6503	SO:0001819	synonymous_variant	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5151G>C	14.37:g.33292170G>C			A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		C	33292170	G	C	33292170	2	2	426	1	0	0	0	0	0	0	0	1	455	1132	40	4		4	AKAP6	14	33292170	Silent	SNP	G	TCGA-BP-5176-01A-01D-1429-08	9898801	33292170	74057370	83	23357											
RALGAPA1	253959	hgsc.bcm.edu	37	14	36096435	36096436	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:36096435_36096436insT	ENST00000389698.3	-	33	5589_5590	c.5199_5200insA	c.(5197-5202)aaagaafs	p.E1734fs	RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.E1747fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.E1734fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Ins_p.E1781fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1734	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAACAAATTCTTTTTCTTCTG	0.332																																																0																																										SO:0001589	frameshift_variant	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5200dupA	14.37:g.36096440_36096440dupT	ENSP00000374348:p.Glu1734fs		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Ins	INS	ENST00000389698.3	37	CCDS32065.1																																																																																				0.332	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		T	36096436	-	T	36096435	7	5	426	1	0	1	1	0	0	0	0	0	13019	922	32	0	1095	0	RALGAPA1	14	36096435	Frame_Shift_Ins	INS	-	TCGA-BP-5176-01A-01D-1429-08	2804265	36096435	71253105	84	23358											
ATP5S	27109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	50790719	50790719	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:50790719G>A	ENST00000311459.7	+	4	798	c.418G>A	c.(418-420)Gac>Aac	p.D140N	ATP5S_ENST00000554438.1_3'UTR|RP11-247L20.4_ENST00000555403.1_lincRNA|ATP5S_ENST00000245448.6_Intron|ATP5S_ENST00000358473.1_Missense_Mutation_p.D112N	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	140					ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)	p.D112N(2)|p.D140N(1)		breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TATCGAGGATGACTGTTTGCT	0.373																																																3	Substitution - Missense(3)	kidney(3)											106	101	102					14																	50790719		2203	4300	6503	SO:0001583	missense	27109			U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.418G>A	14.37:g.50790719G>A	ENSP00000308334:p.Asp140Asn		A8K1U3|D9N156|Q8WWX3|Q96F77	Missense_Mutation	SNP	ENST00000311459.7	37	CCDS32075.1	.	.	.	.	.	.	.	.	.	.	G	8.663	0.900945	0.17760	.	.	ENSG00000125375;ENSG00000125375;ENSG00000258447	ENST00000311459;ENST00000358473;ENST00000553905	T;T	0.17370	2.28;2.28	5.92	2.59	0.31030	.	0.737577	0.14087	N	0.342298	T	0.07279	0.0184	N	0.05383	-0.06	0.24816	N	0.99262	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.001	T	0.42430	-0.9452	10	0.15499	T	0.54	-0.0922	5.7988	0.18401	0.2541:0.1328:0.6131:0.0	.	112;140	Q8WXQ4;Q99766	.;ATP5S_HUMAN	N	140;112;112	ENSP00000308334:D140N;ENSP00000351258:D112N	ENSP00000308334:D140N	D	+	1	0	RP11-247L20.2;ATP5S	49860469	0.010000	0.17322	0.388000	0.26195	0.896000	0.52359	1.093000	0.30939	0.217000	0.20800	0.585000	0.79938	GAC		0.373	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410761.1	NM_015684		A	50790719	G	A	50790719	3	1	426	1	0	0	0	0	1	0	0	0	1163	1290	45	2	482	2	ATP5S	14	50790719	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	14694284	50790719	56558821	85	23359											
OTX2	5015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	57271023	57271023	+	Silent	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:57271023C>A	ENST00000555006.1	-	3	540	c.132G>T	c.(130-132)acG>acT	p.T44T	OTX2_ENST00000339475.5_Silent_p.T52T|OTX2_ENST00000408990.3_Silent_p.T44T|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000554559.1_Intron			P32243	OTX2_HUMAN	orthodenticle homeobox 2	44					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T52T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCCGAGTGAACGTCGTCCTCT	0.597																																																1	Substitution - coding silent(1)	kidney(1)											59	53	55					14																	57271023		2203	4300	6503	SO:0001819	synonymous_variant	5015			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.132G>T	14.37:g.57271023C>A			B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Silent	SNP	ENST00000555006.1	37	CCDS41960.1																																																																																				0.597	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		A	57271023	C	A	57271023	2	1	426	1	0	0	0	0	0	0	0	1	11323	523	19	4		4	OTX2	14	57271023	Silent	SNP	C	TCGA-BP-5176-01A-01D-1429-08	6480304	57271023	50078517	86	23360											
DICER1	23405	broad.mit.edu;ucsc.edu	37	14	95557550	95557550	+	Silent	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:95557550C>A	ENST00000526495.1	-	27	5808	c.5517G>T	c.(5515-5517)cgG>cgT	p.R1839R	DICER1_ENST00000556045.1_Silent_p.R737R|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Silent_p.R1839R|DICER1_ENST00000527414.1_Silent_p.R1839R|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000343455.3_Silent_p.R1839R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1839					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.R1839R(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTATTAGTGGCCGCATCATGG	0.398			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	1	Substitution - coding silent(1)	kidney(1)											156	161	159					14																	95557550		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5517G>T	14.37:g.95557550C>A			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	CCDS9931.1																																																																																				0.398	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			A	95557550	C	A	95557550	2	1	426	1	0	0	0	0	0	0	0	1	4523	726	26	4		4	DICER1	14	95557550	Silent	SNP	C	TCGA-BP-5176-01A-01D-1429-08	38286527	95557550	11791990	87	23361											
CDC42BPB	9578	hgsc.bcm.edu;ucsc.edu	37	14	103416228	103416229	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:103416228_103416229delGT	ENST00000361246.2	-	26	3610_3611	c.3322_3323delAC	c.(3322-3324)acgfs	p.T1108fs		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTTCACCCCCGTGGGCTTTGGG	0.559																																																0																																										SO:0001589	frameshift_variant	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3322_3323delAC	14.37:g.103416228_103416229delGT	ENSP00000355237:p.Thr1108fs			Frame_Shift_Del	DEL	ENST00000361246.2	37	CCDS9978.1																																																																																				0.559	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		-	103416229	GT	-	103416228	7	5	426	1	0	1	0	1	0	0	0	0	3075	1145	40	0	1860	0	CDC42BPB	14	103416228	Frame_Shift_Del	DEL	GT	TCGA-BP-5176-01A-01D-1429-08	7858678	103416228	3933312	88	23362											
PPP1R13B	23368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	104208276	104208276	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:104208276G>A	ENST00000202556.9	-	11	1955	c.1673C>T	c.(1672-1674)gCt>gTt	p.A558V	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	558	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A558V(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CCCTTTATCAGCCAGGAAAGG	0.567																																																1	Substitution - Missense(1)	kidney(1)											135	143	141					14																	104208276		1974	4155	6129	SO:0001583	missense	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1673C>T	14.37:g.104208276G>A	ENSP00000202556:p.Ala558Val		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073227	0.94000	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	T	0.50548	0.74	5.77	5.77	0.91146	.	0.093078	0.85682	D	0.000000	T	0.65616	0.2708	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	P	0.62740	0.906	T	0.65405	-0.6176	10	0.62326	D	0.03	.	19.982	0.97329	0.0:0.0:1.0:0.0	.	558	Q96KQ4	ASPP1_HUMAN	V	558;425	ENSP00000202556:A558V	ENSP00000202556:A558V	A	-	2	0	PPP1R13B	103278029	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.476000	0.97823	2.737000	0.93849	0.561000	0.74099	GCT		0.567	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		A	104208276	G	A	104208276	3	1	426	1	0	0	0	0	1	0	0	0	12362	971	34	2	1627	2	PPP1R13B	14	104208276	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	792048	104208276	3141264	89	23363											
ACTC1	70	broad.mit.edu;hgsc.bcm.edu	37	15	35085454	35085454	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr15:35085454C>T	ENST00000290378.4	-	3	1101	c.446G>A	c.(445-447)cGt>cAt	p.R149H	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	149					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.R149H(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACCTGTGGTACGGCCAGAAGC	0.517																																																1	Substitution - Missense(1)	kidney(1)											84	78	80					15																	35085454		2201	4298	6499	SO:0001583	missense	70			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.446G>A	15.37:g.35085454C>T	ENSP00000290378:p.Arg149His		P04270	Missense_Mutation	SNP	ENST00000290378.4	37	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309046	0.60414	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.98455	-4.94	5.63	5.63	0.86233	.	0.000000	0.51477	U	0.000100	D	0.99290	0.9752	H	0.95114	3.625	0.80722	D	1	D	0.53462	0.96	D	0.64042	0.921	D	0.98877	1.0768	10	0.87932	D	0	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	149	P68032	ACTC_HUMAN	H	149;114	ENSP00000290378:R149H	ENSP00000290378:R149H	R	-	2	0	ACTC1	32872746	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.070000	0.71220	2.814000	0.96858	0.655000	0.94253	CGT		0.517	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		T	35085454	C	T	35085454	3	4	426	1	0	0	0	0	1	0	0	0	195	536	19	1	707	1	ACTC1	15	35085454	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08		35085454	67445938	90	23364											
INO80	54617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41364204	41364204	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr15:41364204G>T	ENST00000361937.3	-	12	1872	c.1448C>A	c.(1447-1449)gCa>gAa	p.A483E	INO80_ENST00000401393.3_Missense_Mutation_p.A483E			Q9ULG1	INO80_HUMAN	INO80 complex subunit	483	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.A483E(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTTGTTTGCTGCCCGTAGGGC	0.418																																																2	Substitution - Missense(2)	kidney(2)											73	81	78					15																	41364204		2203	4300	6503	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1448C>A	15.37:g.41364204G>T	ENSP00000355205:p.Ala483Glu		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	7.160	0.585418	0.13749	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90788	-2.73;-2.73	4.94	4.94	0.65067	.	0.057614	0.64402	D	0.000001	T	0.78547	0.4300	N	0.24115	0.695	0.53688	D	0.999979	P	0.35155	0.487	B	0.30646	0.118	T	0.76002	-0.3118	10	0.02654	T	1	.	9.173	0.37093	0.1591:0.0:0.8409:0.0	.	483	Q9ULG1	INO80_HUMAN	E	483	ENSP00000355205:A483E;ENSP00000384686:A483E	ENSP00000355205:A483E	A	-	2	0	INO80	39151496	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.757000	0.55212	2.593000	0.87608	0.650000	0.86243	GCA		0.418	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		T	41364204	G	T	41364204	3	4	426	1	0	0	0	0	1	0	0	0	7748	1319	46	4	3322	4	INO80	15	41364204	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	6278750	41364204	61167188	91	23365											
SLTM	79811	hgsc.bcm.edu;ucsc.edu	37	15	59205785	59205786	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr15:59205785_59205786delTA	ENST00000380516.2	-	4	512_513	c.425_426delTA	c.(424-426)ttafs	p.L143fs	SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	143	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCAGAGAGTAACTCCTTGGA	0.381																																																0																																										SO:0001589	frameshift_variant	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.425_426delTA	15.37:g.59205785_59205786delTA	ENSP00000369887:p.Leu143fs		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	CCDS10168.2																																																																																				0.381	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		-	59205786	TA	-	59205785	7	5	426	1	0	1	0	1	0	0	0	0	14760	1635	57	0	2750	0	SLTM	15	59205785	Frame_Shift_Del	DEL	TA	TCGA-BP-5176-01A-01D-1429-08	17841581	59205785	43325607	92	23366											
HERC1	8925	broad.mit.edu	37	15	63944712	63944712	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr15:63944712T>G	ENST00000443617.2	-	52	10406	c.10319A>C	c.(10318-10320)aAa>aCa	p.K3440T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3440					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K3440T(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAAAAGACCTTTTTTATTACA	0.348																																																2	Substitution - Missense(2)	kidney(2)											93	86	89					15																	63944712		1889	4114	6003	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10319A>C	15.37:g.63944712T>G	ENSP00000390158:p.Lys3440Thr		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.929608	0.92389	.	.	ENSG00000103657	ENST00000443617	T	0.60040	0.22	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	N	0.17564	0.495	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68135	-0.5489	10	0.56958	D	0.05	.	16.4622	0.84064	0.0:0.0:0.0:1.0	.	3440	Q15751	HERC1_HUMAN	T	3440	ENSP00000390158:K3440T	ENSP00000390158:K3440T	K	-	2	0	HERC1	61731765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.884000	0.87274	2.289000	0.77006	0.533000	0.62120	AAA		0.348	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		G	63944712	T	G	63944712	3	3	426	1	0	0	0	0	1	0	0	0	7059	1841	64	5	4374	5	HERC1	15	63944712	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	4738927	63944712	38586680	93	23367											
USP7	7874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	9010986	9010986	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:9010986C>T	ENST00000344836.4	-	7	946	c.748G>A	c.(748-750)Gat>Aat	p.D250N	USP7_ENST00000535863.1_Missense_Mutation_p.D151N|USP7_ENST00000381886.4_Missense_Mutation_p.D234N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	250	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D250N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GACGAATCATCCCCCTCGGTT	0.343																																																1	Substitution - Missense(1)	kidney(1)											148	149	149					16																	9010986		2197	4300	6497	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.748G>A	16.37:g.9010986C>T	ENSP00000343535:p.Asp250Asn		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460148	0.84317	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.30714	1.52;1.52;1.52	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.51593	-0.8686	10	0.40728	T	0.16	.	19.9801	0.97322	0.0:1.0:0.0:0.0	.	250;234	Q93009;B7Z815	UBP7_HUMAN;.	N	250;258;151;151;192	ENSP00000343535:D250N;ENSP00000443646:D151N;ENSP00000439272:D192N	ENSP00000343535:D250N	D	-	1	0	USP7	8918487	1.000000	0.71417	0.548000	0.28192	0.299000	0.27559	7.684000	0.84104	2.808000	0.96608	0.650000	0.86243	GAT		0.343	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			T	9010986	C	T	9010986	3	4	426	1	0	0	0	0	1	0	0	0	17093	855	30	2	2660	2	USP7	16	9010986	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08		9010986	81343767	94	23368											
ACSM1	116285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20651789	20651789	+	Silent	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:20651789C>T	ENST00000307493.4	-	7	1177	c.1110G>A	c.(1108-1110)tcG>tcA	p.S370S	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.S370S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	370					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.S370S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTACCGTTTCCGACTGCCCAT	0.493																																																1	Substitution - coding silent(1)	kidney(1)											121	93	102					16																	20651789		2201	4300	6501	SO:0001819	synonymous_variant	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1110G>A	16.37:g.20651789C>T			Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	C	0.670	-0.802347	0.02841	.	.	ENSG00000166743	ENST00000524149	.	.	.	4.74	-4.9	0.03094	.	.	.	.	.	T	0.62036	0.2395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60546	-0.7242	4	.	.	.	.	13.8347	0.63402	0.0:0.5663:0.0:0.4337	.	.	.	.	Q	76	.	.	R	-	2	0	ACSM1	20559290	0.198000	0.23374	0.640000	0.29408	0.034000	0.12701	-1.710000	0.01888	-1.675000	0.01459	-1.243000	0.01532	CGG		0.493	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		T	20651789	C	T	20651789	2	4	426	1	0	0	0	0	0	0	0	1	182	639	23	1		1	ACSM1	16	20651789	Silent	SNP	C	TCGA-BP-5176-01A-01D-1429-08	11640803	20651789	69702964	95	23369											
DNAH3	55567	hgsc.bcm.edu;ucsc.edu	37	16	20998759	20998759	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:20998759delT	ENST00000261383.3	-	47	6893	c.6894delA	c.(6892-6894)aaafs	p.K2298fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2298					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCGGATACATTTTTCTACAT	0.423																																																0													68	67	67					16																	20998759		2201	4300	6501	SO:0001589	frameshift_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6894delA	16.37:g.20998759delT	ENSP00000261383:p.Lys2298fs		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Del	DEL	ENST00000261383.3	37	CCDS10594.1																																																																																				0.423	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		-	20998759	T	-	20998759	7	5	426	1	0	1	0	1	0	0	0	0	4605	1490	52	0	5519	0	DNAH3	16	20998759	Frame_Shift_Del	DEL	T	TCGA-BP-5176-01A-01D-1429-08	346970	20998759	69355994	96	23370											
CD19	930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28944420	28944420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:28944420C>T	ENST00000324662.3	+	3	588	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	CD19_ENST00000538922.1_Nonsense_Mutation_p.Q182*|CD19_ENST00000567541.1_Nonsense_Mutation_p.Q182*			P15391	CD19_HUMAN	CD19 molecule	182	Ig-like C2-type 2.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.Q182*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CAGCCTGAACCAGAGCCTCAG	0.617																																																1	Substitution - Nonsense(1)	kidney(1)											36	32	33					16																	28944420		2197	4300	6497	SO:0001587	stop_gained	930				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.544C>T	16.37:g.28944420C>T	ENSP00000313419:p.Gln182*		A0N0P9|F5H635|Q96S68|Q9BRD6	Nonsense_Mutation	SNP	ENST00000324662.3	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535800	0.64972	.	.	ENSG00000177455	ENST00000538922;ENST00000324662;ENST00000537306	.	.	.	5.16	0.647	0.17796	.	1.070300	0.07309	N	0.875550	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.1732	9.523	0.39147	0.1525:0.4032:0.4443:0.0	.	.	.	.	X	182;182;31	.	ENSP00000313419:Q182X	Q	+	1	0	CD19	28851921	0.456000	0.25744	0.002000	0.10522	0.014000	0.08584	0.465000	0.22004	-0.101000	0.12219	-0.538000	0.04264	CAG		0.617	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			T	28944420	C	T	28944420	4	4	426	1	0	0	0	0	0	1	0	0	2975	595	21	2	554	2	CD19	16	28944420	Nonsense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	7945661	28944420	61410333	97	23371											
ZNF423	23090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	49557609	49557609	+	Missense_Mutation	SNP	C	C	A	rs552839268		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:49557609C>A	ENST00000561648.1	-	7	3804	c.3751G>T	c.(3751-3753)Gtg>Ttg	p.V1251L	ZNF423_ENST00000563137.2_Missense_Mutation_p.V1191L|ZNF423_ENST00000562871.1_Missense_Mutation_p.V1191L|ZNF423_ENST00000562520.1_Missense_Mutation_p.V1191L|ZNF423_ENST00000262383.2_Missense_Mutation_p.V1251L|ZNF423_ENST00000567169.1_Missense_Mutation_p.V1134L|ZNF423_ENST00000535559.1_Missense_Mutation_p.V1134L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1251					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1251L(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGCCCGTGCACGGCAAAGATG	0.602																																																2	Substitution - Missense(2)	kidney(2)											168	116	134					16																	49557609		2199	4300	6499	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3751G>T	16.37:g.49557609C>A	ENSP00000455426:p.Val1251Leu		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958044	0.73902	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.78924	1.66;-1.22	5.41	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000003	T	0.74711	0.3752	N	0.20610	0.595	0.40258	D	0.978148	P	0.52061	0.95	P	0.55749	0.783	T	0.74054	-0.3788	9	.	.	.	-20.4406	14.3112	0.66416	0.0:0.9282:0.0:0.0718	.	1251	Q2M1K9	ZN423_HUMAN	L	1251;1134	ENSP00000262383:V1251L;ENSP00000442321:V1134L	.	V	-	1	0	ZNF423	48115110	1.000000	0.71417	0.965000	0.40720	0.997000	0.91878	7.480000	0.81109	1.278000	0.44430	0.561000	0.74099	GTG		0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		A	49557609	C	A	49557609	3	1	426	1	0	0	0	0	1	0	0	0	17903	536	19	4	111	4	ZNF423	16	49557609	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	20613189	49557609	40797144	98	23372											
HERPUD1	9709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	56974151	56974151	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:56974151T>C	ENST00000439977.2	+	6	1096	c.899T>C	c.(898-900)aTg>aCg	p.M300T	RP11-325K4.2_ENST00000570210.1_RNA|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Missense_Mutation_p.M299T|HERPUD1_ENST00000379792.2_Missense_Mutation_p.M275T|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	300					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.M300T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						ACCGTTGTTATGTACCTGTAA	0.398			T	ERG	prostate																																		Dom	yes		16	16q12.2-q13	9709	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"		E	1	Substitution - Missense(1)	kidney(1)											128	122	124					16																	56974151		2198	4300	6498	SO:0001583	missense	9709			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.899T>C	16.37:g.56974151T>C	ENSP00000409555:p.Met300Thr		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248855	0.80024	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T	0.19938	2.11	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;P	0.79784	0.982;0.993;0.878	T	0.46062	-0.9218	10	0.72032	D	0.01	-10.7537	15.2162	0.73267	0.0:0.0:0.0:1.0	.	275;299;300	E9PGD1;Q15011-2;Q15011	.;.;HERP1_HUMAN	T	299;275;300	ENSP00000369118:M275T	ENSP00000300302:M300T	M	+	2	0	HERPUD1	55531652	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	7.793000	0.85851	2.186000	0.69663	0.533000	0.62120	ATG		0.398	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			C	56974151	T	C	56974151	3	2	426	1	0	0	0	0	1	0	0	0	7065	1464	51	3	921	3	HERPUD1	16	56974151	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	7416542	56974151	33380602	99	23373											
C16orf3	2622	hgsc.bcm.edu	37	16	90095596	90095597	+	Intron	DNP	AT	AT	GC	rs61118444|rs55742939|rs71137702	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A|T	A|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:90095596_90095597AT>GC	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.I52A|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ggggcaggctatggggcagcct	0.663																																																0																																										SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	Exception_encountered	16.37:g.90095596_90095597delinsGC			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1																																																																																				0.663	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			GC	90095597	AT	GC	90095596	1	3	426	0	1	0	0	0	0	0	0	0	1814	449	16	3		3	C16orf3	16	90095596	Intron	DNP	AT	TCGA-BP-5176-01A-01D-1429-08	33121445	90095596	259157	100	23374											
SLC47A2	146802	broad.mit.edu;hgsc.bcm.edu	37	17	19582221	19582221	+	Splice_Site	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr17:19582221T>C	ENST00000325411.5	-	17	1639		c.e17-2		SLC47A2_ENST00000463318.1_Splice_Site|SLC47A2_ENST00000350657.5_Splice_Site	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)	p.?(2)		endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CTGTAGCCACTGCGGAAGCAA	0.547																																																2	Unknown(2)	kidney(2)											21	18	20					17																	19582221		2195	4291	6486	SO:0001630	splice_region_variant	146802			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1589-2A>G	17.37:g.19582221T>C			A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Splice_Site	SNP	ENST00000325411.5	37	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	T	7.780	0.709325	0.15239	.	.	ENSG00000180638	ENST00000350657;ENST00000325411	.	.	.	5.0	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6822	0.28520	0.3385:0.0:0.0:0.6615	.	.	.	.	.	-1	.	.	.	-	.	.	SLC47A2	19522813	1.000000	0.71417	0.958000	0.39756	0.026000	0.11368	2.114000	0.41911	0.705000	0.31890	0.460000	0.39030	.		0.547	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908	Intron	C	19582221	T	C	19582221	5	2	426	1	0	0	0	0	0	0	1	0	14654	1594	55	3	225	3	SLC47A2	17	19582221	Splice_Site	SNP	T	TCGA-BP-5176-01A-01D-1429-08		19582221	61612989	101	23375											
MAP2K3	5606	hgsc.bcm.edu	37	17	21207813	21207813	+	Missense_Mutation	SNP	T	T	G	rs74575904	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr17:21207813T>G	ENST00000342679.4	+	8	893	c.644T>G	c.(643-645)tTg>tGg	p.L215W	MAP2K3_ENST00000361818.5_Missense_Mutation_p.L186W|MAP2K3_ENST00000316920.6_Missense_Mutation_p.L186W	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> V (in colon cancer). {ECO:0000269|PubMed:11414763}.		activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AGTGGCTACTTGGTGGACTCT	0.597																																																0													276	193	221					17																	21207813		2203	4300	6503	SO:0001583	missense	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.644T>G	17.37:g.21207813T>G	ENSP00000345083:p.Leu215Trp		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629605	0.87660	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.48201	0.82;0.82	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000058	T	0.76863	0.4047	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84230	0.0466	10	0.87932	D	0	-23.6514	14.7002	0.69150	0.0:0.0:0.0:1.0	.	215	P46734	MP2K3_HUMAN	W	215;186;186;219	ENSP00000345083:L215W;ENSP00000355081:L186W	ENSP00000319139:L219W	L	+	2	0	MAP2K3	21148406	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	7.898000	0.87363	1.877000	0.54381	0.460000	0.39030	TTG		0.597	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		G	21207813	T	G	21207813	3	3	426	1	0	0	0	0	1	0	0	0	9240	1821	63	5	674	5	MAP2K3	17	21207813	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	1625592	21207813	59987397	102	23376											
TP53I13	90313	broad.mit.edu;hgsc.bcm.edu	37	17	27896080	27896080	+	Silent	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr17:27896080G>A	ENST00000301057.7	+	2	232	c.117G>A	c.(115-117)gaG>gaA	p.E39E	RP11-68I3.4_ENST00000579050.1_RNA|ABHD15_ENST00000307201.4_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	39						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E39E(1)		NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		ATTGTCCCGAGAGCCTGTGGC	0.687																																																1	Substitution - coding silent(1)	kidney(1)											11	15	13					17																	27896080		1987	4152	6139	SO:0001819	synonymous_variant	90313			AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.117G>A	17.37:g.27896080G>A			Q7L5U3	Silent	SNP	ENST00000301057.7	37	CCDS42289.1																																																																																				0.687	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	NM_138349		A	27896080	G	A	27896080	2	1	426	1	0	0	0	0	0	0	0	1	16391	933	33	2		2	TP53I13	17	27896080	Silent	SNP	G	TCGA-BP-5176-01A-01D-1429-08	6688267	27896080	53299130	103	23377											
NF1	4763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29684022	29684022	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr17:29684022A>G	ENST00000358273.4	+	53	8166	c.7783A>G	c.(7783-7785)Aaa>Gaa	p.K2595E	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.K388E|NF1_ENST00000356175.3_Missense_Mutation_p.K2574E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2595					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.K2595E(2)|p.K2595fs*5(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATTTACGTAAAGTTTCAGT	0.418			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)|Deletion - Frameshift(1)	soft_tissue(8)|kidney(2)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											198	188	191					17																	29684022		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7783A>G	17.37:g.29684022A>G	ENSP00000351015:p.Lys2595Glu		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748440	0.89753	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.51071	3.13;3.26;2.96;0.72	5.87	5.87	0.94306	Armadillo-type fold (1);	0.104881	0.64402	D	0.000004	T	0.60650	0.2285	L	0.47716	1.5	0.80722	D	1	D;D;P	0.64830	0.994;0.974;0.956	D;D;D	0.70487	0.934;0.969;0.931	T	0.53599	-0.8416	10	0.20519	T	0.43	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	388;2574;2595	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	E	2595;2574;2240;388	ENSP00000351015:K2595E;ENSP00000348498:K2574E;ENSP00000389907:K2240E;ENSP00000396481:K388E	ENSP00000348498:K2574E	K	+	1	0	NF1	26708148	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.398000	0.90195	2.371000	0.80710	0.533000	0.62120	AAA		0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		G	29684022	A	G	29684022	3	3	426	1	0	0	0	0	1	0	0	0	10358	363	13	3	8054	3	NF1	17	29684022	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08	1787942	29684022	51511188	104	23378											
TMEM92	162461	broad.mit.edu;hgsc.bcm.edu	37	17	48356271	48356271	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr17:48356271T>A	ENST00000300433.3	+	5	390	c.280T>A	c.(280-282)Tgc>Agc	p.C94S	RP11-893F2.9_ENST00000508851.1_RNA|TMEM92_ENST00000507382.1_Missense_Mutation_p.C94S|TMEM92_ENST00000511882.1_3'UTR	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	94	Pro-rich.					integral component of membrane (GO:0016021)		p.C94S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCCAGTGGATTGCCGGGGGCC	0.607																																																1	Substitution - Missense(1)	kidney(1)											64	75	71					17																	48356271		2203	4300	6503	SO:0001583	missense	162461				CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.280T>A	17.37:g.48356271T>A	ENSP00000300433:p.Cys94Ser		Q8NBF0	Missense_Mutation	SNP	ENST00000300433.3	37	CCDS11562.1	.	.	.	.	.	.	.	.	.	.	T	7.562	0.664943	0.14710	.	.	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.05081	3.5;3.5	3.96	1.94	0.25998	.	2.114960	0.02256	N	0.067141	T	0.05364	0.0142	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.39961	-0.9588	10	0.17369	T	0.5	-0.9091	5.4058	0.16320	0.0:0.7285:0.0:0.2715	.	94	Q6UXU6	TMM92_HUMAN	S	94	ENSP00000300433:C94S;ENSP00000425144:C94S	ENSP00000300433:C94S	C	+	1	0	TMEM92	45711270	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.076000	0.14712	0.337000	0.23665	-0.464000	0.05259	TGC		0.607	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		A	48356271	T	A	48356271	3	1	426	1	0	0	0	0	1	0	0	0	16226	1812	63	5	294	5	TMEM92	17	48356271	Missense_Mutation	SNP	T	TCGA-BP-5176-01A-01D-1429-08	18672249	48356271	32838939	105	23379											
SMAD2	4087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	45395769	45395769	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr18:45395769C>A	ENST00000402690.2	-	4	759	c.365G>T	c.(364-366)gGa>gTa	p.G122V	SMAD2_ENST00000591214.1_Missense_Mutation_p.G92V|SMAD2_ENST00000356825.4_Missense_Mutation_p.G92V|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000586040.1_Missense_Mutation_p.G92V|SMAD2_ENST00000262160.6_Missense_Mutation_p.G122V	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	122	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.G122V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ATGTGGCAATCCTTTTCGATG	0.403																																																1	Substitution - Missense(1)	kidney(1)											87	79	82					18																	45395769		2203	4300	6503	SO:0001583	missense	4087			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"SMADs"	6768	protein-coding gene	gene with protein product		601366	"MAD, mothers against decapentaplegic homolog 2 (Drosophila)", "SMAD, mothers against DPP homolog 2 (Drosophila)"	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.365G>T	18.37:g.45395769C>A	ENSP00000384449:p.Gly122Val			Missense_Mutation	SNP	ENST00000402690.2	37	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987783	0.74589	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	T;T;T	0.71934	-0.61;-0.61;-0.61	5.17	5.17	0.71159	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	L	0.48174	1.505	0.80722	D	1	P;P;P	0.50156	0.932;0.902;0.635	P;P;P	0.59546	0.859;0.549;0.612	T	0.80162	-0.1497	10	0.62326	D	0.03	.	19.0248	0.92929	0.0:1.0:0.0:0.0	.	92;92;122	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	V	122;92;122	ENSP00000262160:G122V;ENSP00000349282:G92V;ENSP00000384449:G122V	ENSP00000262160:G122V	G	-	2	0	SMAD2	43649767	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.776000	0.85560	2.566000	0.86566	0.591000	0.81541	GGA		0.403	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		A	45395769	C	A	45395769	3	1	426	1	0	0	0	0	1	0	0	0	14764	855	30	4	1070	4	SMAD2	18	45395769	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08		45395769	32681479	106	23380											
ALPK2	115701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	56204268	56204268	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr18:56204268A>G	ENST00000361673.3	-	5	3364	c.3151T>C	c.(3151-3153)Ttt>Ctt	p.F1051L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1051						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F412L(1)|p.F1051L(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGGAAGGAAATTGGGAAACC	0.498																																																2	Substitution - Missense(2)	kidney(2)											111	102	105					18																	56204268		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3151T>C	18.37:g.56204268A>G	ENSP00000354991:p.Phe1051Leu		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	2.489	-0.317794	0.05386	.	.	ENSG00000198796	ENST00000361673	T	0.28666	1.6	5.7	-1.8	0.07907	.	2.334980	0.01288	N	0.009928	T	0.13030	0.0316	N	0.02315	-0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38802	-0.9644	10	0.02654	T	1	3.5805	13.0636	0.59020	0.2454:0.0:0.7546:0.0	.	1046;1051	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	L	1051	ENSP00000354991:F1051L	ENSP00000354991:F1051L	F	-	1	0	ALPK2	54355248	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.515000	0.22801	-0.250000	0.09555	0.482000	0.46254	TTT		0.498	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		G	56204268	A	G	56204268	3	3	426	1	0	0	0	0	1	0	0	0	545	101	4	3	3397	3	ALPK2	18	56204268	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08	10808499	56204268	21872980	107	23381											
SOCS6	9306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	67992983	67992983	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr18:67992983C>T	ENST00000397942.3	+	2	1395	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	SOCS6_ENST00000582322.1_Missense_Mutation_p.S360L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	360					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)		p.S360L(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GTTTATGACTCAGTGCAAAGT	0.493																																					Melanoma(84;1024 1361 24382 36583 42651)											1	Substitution - Missense(1)	kidney(1)											82	79	80					18																	67992983		2203	4300	6503	SO:0001583	missense	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1079C>T	18.37:g.67992983C>T	ENSP00000381034:p.Ser360Leu		Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544220	0.65198	.	.	ENSG00000170677	ENST00000397942	T	0.25085	1.82	5.34	5.34	0.76211	.	0.086330	0.48767	D	0.000173	T	0.19967	0.0480	L	0.27053	0.805	0.80722	D	1	P	0.35656	0.514	B	0.27887	0.084	T	0.03597	-1.1021	10	0.54805	T	0.06	-8.8137	19.0707	0.93134	0.0:1.0:0.0:0.0	.	360	O14544	SOCS6_HUMAN	L	360	ENSP00000381034:S360L	ENSP00000381034:S360L	S	+	2	0	SOCS6	66143963	1.000000	0.71417	0.955000	0.39395	0.978000	0.69477	7.613000	0.82986	2.507000	0.84556	0.561000	0.74099	TCA		0.493	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			T	67992983	C	T	67992983	3	4	426	1	0	0	0	0	1	0	0	0	14924	838	29	2	1081	2	SOCS6	18	67992983	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	11788715	67992983	10084265	108	23382											
FAM69C	125704	hgsc.bcm.edu;ucsc.edu	37	18	72109246	72109246	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr18:72109246delA	ENST00000343998.6	-	3	990	c.982delT	c.(982-984)tcafs	p.S328fs	FAM69C_ENST00000400291.2_Frame_Shift_Del_p.S29fs	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	328						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						TCACATCTTGAAAAACAGTCA	0.478																																																0													107	111	110					18																	72109246		1947	4138	6085	SO:0001589	frameshift_variant	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"chromosome 18 open reading frame 51"	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.982delT	18.37:g.72109246delA	ENSP00000344331:p.Ser328fs			Frame_Shift_Del	DEL	ENST00000343998.6	37	CCDS42445.2																																																																																				0.478	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346971.2	XM_058931		-	72109246	A	-	72109246	7	5	426	1	0	1	0	1	0	0	0	0	5606	246	9	0	285	0	FAM69C	18	72109246	Frame_Shift_Del	DEL	A	TCGA-BP-5176-01A-01D-1429-08	4116263	72109246	5968002	109	23383											
ZNF407	55628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72346444	72346444	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr18:72346444A>C	ENST00000299687.5	+	1	3469	c.3469A>C	c.(3469-3471)Aat>Cat	p.N1157H	ZNF407_ENST00000577538.1_Missense_Mutation_p.N1157H|ZNF407_ENST00000582337.1_Missense_Mutation_p.N1157H|ZNF407_ENST00000309902.6_Missense_Mutation_p.N1157H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.N1157H(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAAGAATCTAATTTCAATGA	0.388																																																2	Substitution - Missense(2)	kidney(2)											63	64	64					18																	72346444		1881	4135	6016	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3469A>C	18.37:g.72346444A>C	ENSP00000299687:p.Asn1157His		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.678824	0.29783	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10288	2.89;3.33	5.86	1.72	0.24424	.	0.703433	0.13928	N	0.353110	T	0.08088	0.0202	L	0.32530	0.975	0.09310	N	1	B;B;B	0.21071	0.051;0.051;0.03	B;B;B	0.21917	0.037;0.025;0.011	T	0.35025	-0.9805	10	0.30854	T	0.27	.	7.1397	0.25548	0.6838:0.1219:0.1943:0.0	.	1157;1157;1157	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	H	1157	ENSP00000299687:N1157H;ENSP00000310359:N1157H	ENSP00000299687:N1157H	N	+	1	0	ZNF407	70475432	0.002000	0.14202	0.067000	0.19924	0.420000	0.31355	0.767000	0.26575	0.478000	0.27488	-0.256000	0.11100	AAT		0.388	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		C	72346444	A	C	72346444	3	2	426	1	0	0	0	0	1	0	0	0	17892	362	13	5	3471	5	ZNF407	18	72346444	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08	237198	72346444	5730804	110	23384											
ZFR2	23217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3813874	3813874	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr19:3813874delT	ENST00000262961.4	-	14	2196	c.2186delA	c.(2185-2187)cagfs	p.Q729fs		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	729	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TATGGTGACCTGCATCCTGGG	0.587																																																0													93	104	101					19																	3813874		2109	4213	6322	SO:0001589	frameshift_variant	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2186delA	19.37:g.3813874delT	ENSP00000262961:p.Gln729fs			Frame_Shift_Del	DEL	ENST00000262961.4	37	CCDS45921.1																																																																																				0.587	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		-	3813874	T	-	3813874	7	5	426	1	0	1	0	1	0	0	0	0	17665	1580	55	0	657	0	ZFR2	19	3813874	Frame_Shift_Del	DEL	T	TCGA-BP-5176-01A-01D-1429-08		3813874	55315109	111	23385											
DNAJB1	3337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14627690	14627690	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr19:14627690A>C	ENST00000254322.2	-	2	450	c.380T>G	c.(379-381)aTt>aGt	p.I127S	DNAJB1_ENST00000396969.4_Missense_Mutation_p.I27S	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	127					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.I127S(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TGGGTCATCAATGTCCATGCC	0.557																																																1	Substitution - Missense(1)	kidney(1)											84	73	77					19																	14627690		2203	4300	6503	SO:0001583	missense	3337			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.380T>G	19.37:g.14627690A>C	ENSP00000254322:p.Ile127Ser		B4DX52	Missense_Mutation	SNP	ENST00000254322.2	37	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	a	13.10	2.137123	0.37728	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	T;T	0.58506	0.33;1.55	4.83	4.83	0.62350	.	0.243679	0.41294	D	0.000914	T	0.29423	0.0733	N	0.04090	-0.28	0.51767	D	0.999932	B	0.24618	0.107	B	0.14578	0.011	T	0.13602	-1.0503	10	0.21540	T	0.41	.	7.2228	0.25997	0.8998:0.0:0.1002:0.0	.	127	P25685	DNJB1_HUMAN	S	127;27	ENSP00000254322:I127S;ENSP00000444212:I27S	ENSP00000254322:I127S	I	-	2	0	DNAJB1	14488690	0.945000	0.32115	0.753000	0.31225	0.980000	0.70556	2.488000	0.45276	1.799000	0.52666	0.459000	0.35465	ATT		0.557	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		C	14627690	A	C	14627690	3	2	426	1	0	0	0	0	1	0	0	0	4617	101	4	5	650	5	DNAJB1	19	14627690	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08	10813816	14627690	44501293	112	23386											
SYDE1	85360	hgsc.bcm.edu;ucsc.edu	37	19	15224541	15224561	+	In_Frame_Del	DEL	GGGCGGGACTTCCTGCCCTGT	GGGCGGGACTTCCTGCCCTGT	-	rs61732043|rs375316079		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	GGGCGGGACTTCCTGCCCTGT	GGGCGGGACTTCCTGCCCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr19:15224541_15224561delGGGCGGGACTTCCTGCCCTGT	ENST00000342784.2	+	8	2006_2026	c.1975_1995delGGGCGGGACTTCCTGCCCTGT	c.(1975-1995)gggcgggacttcctgccctgtdel	p.GRDFLPC659del	SYDE1_ENST00000600440.1_In_Frame_Del_p.GRDFLPC592del|SYDE1_ENST00000600252.1_In_Frame_Del_p.GRDFLPC316del	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	659					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)	p.R660L(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GAGCGTTTGCGGGCGGGACTTCCTGCCCTGTGGGCGGGATT	0.706																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	85360			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.1975_1995delGGGCGGGACTTCCTGCCCTGT	19.37:g.15224541_15224561delGGGCGGGACTTCCTGCCCTGT	ENSP00000341489:p.Gly659_Cys665del		Q7L2I8|Q8N6J2|Q9H8K4	In_Frame_Del	DEL	ENST00000342784.2	37	CCDS12324.1																																																																																				0.706	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		-	15224561	GGGCGGGACTTCCTGCCCTGT	-	15224541	7	5	426	1	0	1	0	1	0	0	0	0	15440	1116	39	0	2005	0	SYDE1	19	15224541	In_Frame_Del	DEL	GGGCGGGACTTCCTGCCCTGT	TCGA-BP-5176-01A-01D-1429-08	596851	15224541	43904442	113	23387											
CDS2	8760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	5154171	5154171	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr20:5154171G>T	ENST00000460006.1	+	2	367	c.60G>T	c.(58-60)gaG>gaT	p.E20D	CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	20					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)	p.E20D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CCACTTAGGAGTCAGAGTCAG	0.517																																																1	Substitution - Missense(1)	kidney(1)											118	119	119					20																	5154171		2203	4300	6503	SO:0001583	missense	8760			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.60G>T	20.37:g.5154171G>T	ENSP00000419879:p.Glu20Asp		B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183224	0.21870	.	.	ENSG00000101290	ENST00000460006	T	0.45276	0.9	5.14	-0.387	0.12463	.	0.255011	0.39544	N	0.001334	T	0.26882	0.0658	L	0.38531	1.155	0.54753	D	0.99998	B	0.10296	0.003	B	0.09377	0.004	T	0.10019	-1.0648	10	0.17832	T	0.49	.	9.5102	0.39071	0.5033:0.0:0.4967:0.0	.	20	O95674	CDS2_HUMAN	D	20	ENSP00000419879:E20D	ENSP00000419879:E20D	E	+	3	2	CDS2	5102171	0.937000	0.31787	0.880000	0.34516	0.549000	0.35272	0.205000	0.17356	-0.223000	0.09943	-0.136000	0.14681	GAG		0.517	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			T	5154171	G	T	5154171	3	4	426	1	0	0	0	0	1	0	0	0	3180	1020	36	4	66	4	CDS2	20	5154171	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08		5154171	57871349	114	23388											
SLC12A5	57468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44684805	44684805	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr20:44684805A>T	ENST00000454036.2	+	22	2922	c.2873A>T	c.(2872-2874)gAt>gTt	p.D958V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.D935V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	958					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.D935V(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTATCACAGATGAGTCACGA	0.552																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											73	60	64					20																	44684805		2203	4300	6503	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2873A>T	20.37:g.44684805A>T	ENSP00000387694:p.Asp958Val		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	8.685	0.906046	0.17760	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.87412	-2.25;-2.25	4.8	3.71	0.42584	.	0.123411	0.53938	D	0.000053	D	0.84750	0.5541	M	0.77313	2.365	0.80722	D	1	P;B	0.41313	0.745;0.08	B;B	0.35971	0.215;0.045	D	0.83879	0.0278	10	0.66056	D	0.02	.	9.6702	0.40008	0.9181:0.0:0.0819:0.0	.	958;935	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	958;935	ENSP00000387694:D958V;ENSP00000243964:D935V	ENSP00000243964:D935V	D	+	2	0	SLC12A5	44118212	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	8.761000	0.91691	0.874000	0.35823	-0.379000	0.06801	GAT		0.552	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			T	44684805	A	T	44684805	3	4	426	1	0	0	0	0	1	0	0	0	14392	333	12	5	3015	5	SLC12A5	20	44684805	Missense_Mutation	SNP	A	TCGA-BP-5176-01A-01D-1429-08	39530634	44684805	18340715	115	23389											
PPP1R3D	5509	broad.mit.edu;hgsc.bcm.edu	37	20	58514505	58514505	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr20:58514505G>A	ENST00000370996.3	-	1	847	c.482C>T	c.(481-483)cCg>cTg	p.P161L	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	161					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.P161L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CTCGACGGGCGGCGGGAAATC	0.677																																																1	Substitution - Missense(1)	kidney(1)											14	17	16					20																	58514505		2158	4227	6385	SO:0001583	missense	5509			Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9294	protein-coding gene	gene with protein product		603326	"protein phosphatase 1, regulatory (inhibitor) subunit 3D"	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.482C>T	20.37:g.58514505G>A	ENSP00000360035:p.Pro161Leu		Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685314	0.68157	.	.	ENSG00000132825	ENST00000370996	T	0.55052	0.54	5.05	4.03	0.46877	.	0.088646	0.44902	D	0.000406	T	0.33469	0.0864	L	0.46157	1.445	0.58432	D	0.999995	P	0.49961	0.93	B	0.27076	0.076	T	0.20874	-1.0262	10	0.21014	T	0.42	-26.1352	10.3538	0.43952	0.0:0.0:0.548:0.452	.	161	O95685	PPR3D_HUMAN	L	161	ENSP00000360035:P161L	ENSP00000360035:P161L	P	-	2	0	PPP1R3D	57947900	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	3.473000	0.53122	2.338000	0.79540	0.462000	0.41574	CCG		0.677	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		A	58514505	G	A	58514505	3	1	426	1	0	0	0	0	1	0	0	0	12379	1116	39	1	421	1	PPP1R3D	20	58514505	Missense_Mutation	SNP	G	TCGA-BP-5176-01A-01D-1429-08	13829700	58514505	4511015	116	23390											
GABPA	2551	broad.mit.edu	37	21	27141472	27141472	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr21:27141472C>A	ENST00000354828.3	+	10	1821	c.1294C>A	c.(1294-1296)Cat>Aat	p.H432N	GABPA_ENST00000400075.3_Missense_Mutation_p.H432N	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	432					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.H432N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GATGCAGCTCCATGGAATTGC	0.473																																																1	Substitution - Missense(1)	kidney(1)											35	39	38					21																	27141472		2203	4294	6497	SO:0001583	missense	2551				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"human nuclear respiratory factor-2 subunit alpha", "nuclear respiratory factor 2 alpha subunit"	600609	"GA-binding protein transcription factor, alpha subunit (60kD)"			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1294C>A	21.37:g.27141472C>A	ENSP00000346886:p.His432Asn		Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046103	0.55110	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.11712	2.75;2.75	5.61	5.61	0.85477	.	0.302405	0.35772	N	0.002984	T	0.09423	0.0232	N	0.24115	0.695	0.80722	D	1	P	0.34662	0.462	B	0.27887	0.084	T	0.12553	-1.0543	10	0.62326	D	0.03	.	19.2097	0.93748	0.0:1.0:0.0:0.0	.	432	Q06546	GABPA_HUMAN	N	432	ENSP00000346886:H432N;ENSP00000382948:H432N	ENSP00000346886:H432N	H	+	1	0	GABPA	26063343	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.393000	0.79851	2.649000	0.89929	0.585000	0.79938	CAT		0.473	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		A	27141472	C	A	27141472	3	1	426	1	0	0	0	0	1	0	0	0	6159	594	21	4	1328	4	GABPA	21	27141472	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08		27141472	20988423	117	23391											
IFNAR1	3454	broad.mit.edu;hgsc.bcm.edu	37	21	34721421	34721421	+	Silent	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr21:34721421A>T	ENST00000270139.3	+	7	965	c.813A>T	c.(811-813)ggA>ggT	p.G271G	IFNAR1_ENST00000442357.2_Silent_p.G271G|IFNAR1_ENST00000416947.2_Silent_p.G202G	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	271	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)	p.G271G(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	GGAATCCTGGAAACCATTTGT	0.313																																					Esophageal Squamous(73;817 1211 32990 35667 42746)											1	Substitution - coding silent(1)	kidney(1)											67	73	71					21																	34721421		2203	4300	6503	SO:0001819	synonymous_variant	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.813A>T	21.37:g.34721421A>T			B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Silent	SNP	ENST00000270139.3	37	CCDS13624.1																																																																																				0.313	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			T	34721421	A	T	34721421	2	4	426	1	0	0	0	0	0	0	0	1	7546	233	9	5		5	IFNAR1	21	34721421	Silent	SNP	A	TCGA-BP-5176-01A-01D-1429-08	7579949	34721421	13408474	118	23392											
CABIN1	23523	broad.mit.edu;hgsc.bcm.edu	37	22	24451598	24451598	+	Silent	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr22:24451598C>T	ENST00000398319.2	+	9	1454	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	CABIN1_ENST00000405822.2_Silent_p.L307L|CABIN1_ENST00000263119.5_Silent_p.L357L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	357					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.L357L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGTCCTGGTCTGTTGGAGAC	0.617																																																1	Substitution - coding silent(1)	kidney(1)											55	52	53					22																	24451598		2203	4300	6503	SO:0001819	synonymous_variant	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1069C>T	22.37:g.24451598C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	CCDS13823.1																																																																																				0.617	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		T	24451598	C	T	24451598	2	4	426	1	0	0	0	0	0	0	0	1	2530	912	32	2		2	CABIN1	22	24451598	Silent	SNP	C	TCGA-BP-5176-01A-01D-1429-08		24451598	26852968	119	23393											
SFI1	9814	hgsc.bcm.edu;ucsc.edu	37	22	31927108	31927108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr22:31927108delA	ENST00000400288.2	+	4	436	c.331delA	c.(331-333)aaafs	p.K111fs	SFI1_ENST00000540643.1_Intron|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000432498.1_Frame_Shift_Del_p.K111fs|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000414585.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	111	Interaction with CETN2.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ATTTCCCTCTAAAGCCAGGTA	0.323																																																0													105	98	100					22																	31927108		1826	4080	5906	SO:0001589	frameshift_variant	9814			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.331delA	22.37:g.31927108delA	ENSP00000383145:p.Lys111fs		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Frame_Shift_Del	DEL	ENST00000400288.2	37	CCDS43004.1																																																																																				0.323	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		-	31927108	A	-	31927108	7	5	426	1	0	1	0	1	0	0	0	0	14162	363	13	0	341	0	SFI1	22	31927108	Frame_Shift_Del	DEL	A	TCGA-BP-5176-01A-01D-1429-08	7475510	31927108	19377458	120	23394											
ASMTL	8623	hgsc.bcm.edu	37	X	1522164	1522164	+	Stop_Codon_Del	DEL	A	A	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chrX:1522164delA	ENST00000381317.3	-	0	1896				ASMTL_ENST00000534940.1_Stop_Codon_Del|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL_ENST00000416733.2_Stop_Codon_Del|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000443929.1_RNA|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000381333.4_Stop_Codon_Del	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like							cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGGCTTCAGGGGGCCACT	0.607													a|A|-|deletion	385	0.076877	0.025	0.1427	5008	,	,		16677	0.0635		0.1074	False		,,,				2504	0.0828															0									,,	176,3578		9,158,1710	47	49	49		,,	0.8	0	X		52	1024,6896		69,886,3005	no	frameshift,frameshift,frameshift	ASMTL	NM_004192.3,NM_001173474.1,NM_001173473.1	,,	78,1044,4715	A1A1,A1R,RR		12.9293,4.6883,10.2793	,,	,,	1522164	1200,10474	1952	4068	6020	SO:0001567	stop_retained_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	Exception_encountered	X.37:g.1522164delA	Exception_encountered		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	In_Frame_Del	DEL	ENST00000381317.3	37	CCDS43917.1																																																																																				0.607	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		-	1522164	A	-	1522164	7	5	426	1	0	1	0	1	0	0	0	0	1046	201	7	0	5	0	ASMTL	23	1522164	Stop_Codon_Del	DEL	A	TCGA-BP-5176-01A-01D-1429-08		1522164	153748396	121	23395											
DMD	1756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	31792262	31792262	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chrX:31792262C>G	ENST00000357033.4	-	51	7563	c.7357G>C	c.(7357-7359)Gaa>Caa	p.E2453Q	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2449Q|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2453					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E1112Q(1)|p.E2453Q(1)|p.E2449Q(1)|p.E2448Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGGCAGTTTCCTTAGTAACC	0.413																																																4	Substitution - Missense(4)	kidney(4)											80	65	70					X																	31792262		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7357G>C	X.37:g.31792262C>G	ENSP00000354923:p.Glu2453Gln		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.193211|2.193211	0.38707|0.38707	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280|ENST00000465285	T;T;T|.	0.61040|.	4.06;0.14;0.14|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.38111|.	U|.	0.001819|.	T|T	0.57154|0.57154	0.2034|0.2034	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.61697|.	0.978;0.98;0.98;0.99;0.99|.	P;P;P;P;P|.	0.54238|.	0.731;0.611;0.611;0.746;0.746|.	T|T	0.53830|0.53830	-0.8383|-0.8383	10|5	0.37606|.	T|.	0.19|.	.|.	17.6536|17.6536	0.88171|0.88171	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2445;2453;2449;1112;1109|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6|.	.;DMD_HUMAN;.;.;.|.	Q|A	2445;1112;1109;149;2449;2453;2453;2330|181	ENSP00000350765:E149Q;ENSP00000367948:E2449Q;ENSP00000354923:E2453Q|.	ENSP00000354923:E2453Q|.	E|G	-|-	1|2	0|0	DMD|DMD	31702183|31702183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.677000|5.677000	0.68142|0.68142	2.096000|2.096000	0.63516|0.63516	0.594000|0.594000	0.82650|0.82650	GAA|GGA		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		G	31792262	C	G	31792262	3	3	426	1	0	0	0	0	1	0	0	0	4582	864	30	4	3964	4	DMD	23	31792262	Missense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	30270098	31792262	123478298	122	23396											
TBC1D8B	54885	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	106109183	106109183	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chrX:106109183C>G	ENST00000357242.5	+	16	2756	c.2582C>G	c.(2581-2583)tCa>tGa	p.S861*	TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.S855*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	861	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.S861*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATAAAGACTCACTAGCTTTA	0.393																																																1	Substitution - Nonsense(1)	kidney(1)											126	109	115					X																	106109183		2203	4300	6503	SO:0001587	stop_gained	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2582C>G	X.37:g.106109183C>G	ENSP00000349781:p.Ser861*		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Nonsense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	41	9.058757	0.99051	.	.	ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972	.	.	.	5.71	3.84	0.44239	.	0.551411	0.18948	N	0.126748	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-0.5282	11.073	0.48014	0.0:0.7768:0.1399:0.0833	.	.	.	.	X	861;855;123	.	ENSP00000276175:S855X	S	+	2	0	TBC1D8B	105995839	0.991000	0.36638	0.973000	0.42090	0.978000	0.69477	2.901000	0.48695	1.169000	0.42739	0.594000	0.82650	TCA		0.393	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		G	106109183	C	G	106109183	4	3	426	1	0	0	0	0	0	1	0	0	15631	838	29	4	2710	4	TBC1D8B	23	106109183	Nonsense_Mutation	SNP	C	TCGA-BP-5176-01A-01D-1429-08	74316921	106109183	49161377	123	23397											
ODZ1	10178	hgsc.bcm.edu;ucsc.edu	37	X	124097394	124097394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chrX:124097394delG	ENST00000371130.3	-	1	272	c.209delC	c.(208-210)tctfs	p.S70fs	TENM1_ENST00000422452.2_Frame_Shift_Del_p.S70fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	70	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACCTTGAGTAGATTTTTCTAC	0.338																																																0													166	155	159					X																	124097394		2203	4300	6503	SO:0001589	frameshift_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.209delC	X.37:g.124097394delG	ENSP00000360171:p.Ser70fs		B2RTR5|Q5JZ17	Frame_Shift_Del	DEL	ENST00000371130.3	37	CCDS14609.1																																																																																				0.338	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		-	124097394	G	-	124097394	7	5	426	1	0	1	0	1	0	0	0	0	10836	942	33	0	8117	0	ODZ1	23	124097394	Frame_Shift_Del	DEL	G	TCGA-BP-5176-01A-01D-1429-08	17988211	124097394	31173166	124	23398											
PTCHD2	57540	broad.mit.edu;ucsc.edu	37	1	11579432	11579432	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr1:11579432G>A	ENST00000294484.6	+	8	2048	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R637Q	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	637					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.R854Q(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AATTGCAGCCGGAAGACCTCC	0.647																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											110	122	118					1																	11579432		1992	4165	6157	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1910G>A	1.37:g.11579432G>A	ENSP00000294484:p.Arg637Gln		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	g	12.95	2.091474	0.36952	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.85702	-2.02;-2.02	5.42	-0.844	0.10741	.	0.696678	0.13806	N	0.361480	T	0.76256	0.3962	L	0.43152	1.355	0.09310	N	0.999998	B	0.16166	0.016	B	0.15870	0.014	T	0.59910	-0.7365	10	0.27082	T	0.32	-8.9728	9.2024	0.37268	0.5809:0.0:0.4191:0.0	.	637	Q9P2K9	PTHD2_HUMAN	Q	637	ENSP00000294484:R637Q;ENSP00000374226:R637Q	ENSP00000294484:R637Q	R	+	2	0	PTCHD2	11502019	0.010000	0.17322	0.685000	0.30070	0.374000	0.29953	0.712000	0.25779	-0.185000	0.10550	-0.130000	0.14895	CGG		0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		A	11579432	G	A	11579432	3	1	427	1	0	0	0	0	1	0	0	0	12738	1116	39	1	1936	1	PTCHD2	1	11579432	Missense_Mutation	SNP	G	TCGA-BP-5177-01A-01D-1429-08		11579432	237671189	1	23399											
ANKRD13C	81573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70766485	70766485	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr1:70766485C>A	ENST00000370944.4	-	7	1196	c.883G>T	c.(883-885)Gac>Tac	p.D295Y	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.D260Y	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	295					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.D295Y(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TGTTCATTGTCTAATACTACA	0.363																																																1	Substitution - Missense(1)	kidney(1)											62	58	60					1																	70766485		2203	4300	6503	SO:0001583	missense	81573				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.883G>T	1.37:g.70766485C>A	ENSP00000359982:p.Asp295Tyr		B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	CCDS648.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746961	0.89663	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.55052	0.54;0.54	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.91038	3.17	0.80722	D	1	D;P	0.57899	0.981;0.762	P;P	0.60682	0.878;0.869	T	0.80476	-0.1366	10	0.87932	D	0	.	18.9114	0.92487	0.0:1.0:0.0:0.0	.	260;295	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	Y	295;260	ENSP00000359982:D295Y;ENSP00000262346:D260Y	ENSP00000262346:D260Y	D	-	1	0	ANKRD13C	70539073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.656000	0.83736	2.479000	0.83701	0.557000	0.71058	GAC		0.363	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		A	70766485	C	A	70766485	3	1	427	1	0	0	0	0	1	0	0	0	643	913	32	4	770	4	ANKRD13C	1	70766485	Missense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08	59187053	70766485	178484136	2	23400											
CLCA2	9635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	86913358	86913358	+	Silent	SNP	T	T	C			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr1:86913358T>C	ENST00000370565.4	+	11	2043	c.1881T>C	c.(1879-1881)aaT>aaC	p.N627N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	627					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.N627N(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TTTATGCCAATGTGAAACAGG	0.507																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											1	Substitution - coding silent(1)	kidney(1)											134	127	130					1																	86913358		2203	4300	6503	SO:0001819	synonymous_variant	9635				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1881T>C	1.37:g.86913358T>C			A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	CCDS708.1																																																																																				0.507	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		C	86913358	T	C	86913358	2	2	427	1	0	0	0	0	0	0	0	1	3460	1461	51	3		3	CLCA2	1	86913358	Silent	SNP	T	TCGA-BP-5177-01A-01D-1429-08	16146873	86913358	162337263	3	23401											
RBM8A	9939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	145508564	145508564	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr1:145508564A>C	ENST00000330165.8	+	4	364	c.295A>C	c.(295-297)Att>Ctt	p.I99L	RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.I98L|RP11-315I20.1_ENST00000599626.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	99	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I99L(1)		kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATATGGGGAAATTAAAAACAT	0.438																																																1	Substitution - Missense(1)	kidney(1)											115	108	111					1																	145508564		2203	4300	6503	SO:0001583	missense	9939			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"RNA binding motif (RRM) containing"	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.295A>C	1.37:g.145508564A>C	ENSP00000333001:p.Ile99Leu		B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	37	CCDS916.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638114	0.87760	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.78246	-1.16;-1.16	4.32	4.32	0.51571	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	M	0.69823	2.125	0.58432	D	0.999998	P;P	0.36974	0.521;0.576	P;P	0.46419	0.479;0.516	T	0.78237	-0.2282	10	0.59425	D	0.04	-14.3008	9.7896	0.40697	1.0:0.0:0.0:0.0	.	98;99	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	L	99;98	ENSP00000333001:I99L;ENSP00000358313:I98L	ENSP00000333001:I99L	I	+	1	0	RBM8A	144219921	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.028000	0.88798	1.835000	0.53391	0.459000	0.35465	ATT		0.438	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105		C	145508564	A	C	145508564	3	2	427	1	0	0	0	0	1	0	0	0	13152	101	4	5	309	5	RBM8A	1	145508564	Missense_Mutation	SNP	A	TCGA-BP-5177-01A-01D-1429-08	58595206	145508564	103742057	4	23402											
KCNN3	3782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154705482	154705482	+	Silent	SNP	G	G	A			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr1:154705482G>A	ENST00000271915.4	-	4	1902	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	KCNN3_ENST00000361147.4_Silent_p.I224I|KCNN3_ENST00000358505.2_Silent_p.I216I	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	534					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.I224I(1)|p.I529I(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TACTCACCATGATGCCAGTGA	0.532																																																2	Substitution - coding silent(2)	kidney(2)											122	95	104					1																	154705482		2203	4300	6503	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1587C>T	1.37:g.154705482G>A			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	CCDS30880.1																																																																																				0.532	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		A	154705482	G	A	154705482	2	1	427	1	0	0	0	0	0	0	0	1	8082	1280	45	2		2	KCNN3	1	154705482	Silent	SNP	G	TCGA-BP-5177-01A-01D-1429-08	9196918	154705482	94545139	5	23403											
RFWD2	64326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	176055007	176055007	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr1:176055007T>C	ENST00000367669.3	-	10	1560	c.1046A>G	c.(1045-1047)tAt>tGt	p.Y349C	RFWD2_ENST00000308769.8_Missense_Mutation_p.Y325C	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	349					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.Y349C(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CGTGCTATTATACCAAGGCTG	0.338																																					Ovarian(134;1413 1765 5706 35534 51541)											1	Substitution - Missense(1)	kidney(1)											106	98	101					1																	176055007		2203	4300	6503	SO:0001583	missense	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1046A>G	1.37:g.176055007T>C	ENSP00000356641:p.Tyr349Cys		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	CCDS30944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.3|23.3	4.401069|4.401069	0.83120|0.83120	.|.	.|.	ENSG00000143207|ENSG00000143207	ENST00000459744|ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306	.|T;T;T	.|0.12361	.|2.69;2.69;2.69	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26376|0.26376	0.0644|0.0644	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;P;D;D	.|0.76494	.|0.987;0.997;0.95;0.999;0.997	.|P;P;P;D;P	.|0.66602	.|0.857;0.712;0.722;0.945;0.844	T|T	0.00790|0.00790	-1.1565|-1.1565	5|10	.|0.38643	.|T	.|0.18	-15.2247|-15.2247	15.1669|15.1669	0.72837|0.72837	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|124;109;325;349;349	.|Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.|.;.;.;RFWD2_HUMAN;.	V|C	69|124;349;184;325;188	.|ENSP00000356641:Y349C;ENSP00000356638:Y184C;ENSP00000310943:Y325C	.|ENSP00000310943:Y325C	I|Y	-|-	1|2	0|0	RFWD2|RFWD2	174321630|174321630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.486000|7.486000	0.81215|0.81215	2.226000|2.226000	0.72624|0.72624	0.528000|0.528000	0.53228|0.53228	ATA|TAT		0.338	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		C	176055007	T	C	176055007	3	2	427	1	0	0	0	0	1	0	0	0	13266	1406	49	3	1193	3	RFWD2	1	176055007	Missense_Mutation	SNP	T	TCGA-BP-5177-01A-01D-1429-08	21349525	176055007	73195614	6	23404											
NAV1	89796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201751584	201751584	+	Silent	SNP	C	C	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr1:201751584C>T	ENST00000367296.4	+	6	2364	c.1944C>T	c.(1942-1944)agC>agT	p.S648S	NAV1_ENST00000367302.1_Silent_p.S661S|NAV1_ENST00000295624.6_Silent_p.S648S|NAV1_ENST00000367295.1_Silent_p.S257S|NAV1_ENST00000367297.4_Silent_p.S648S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Silent_p.S648S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	648					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S648S(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCAAGACTAGCTTAGATGTTT	0.552																																																1	Substitution - coding silent(1)	kidney(1)											84	87	86					1																	201751584		2203	4300	6503	SO:0001819	synonymous_variant	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1944C>T	1.37:g.201751584C>T			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	8.504	0.864856	0.17250	.	.	ENSG00000134369	ENST00000430015	.	.	.	5.8	2.93	0.34026	.	.	.	.	.	T	0.59500	0.2198	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52917	-0.8511	4	.	.	.	-31.1504	10.3196	0.43758	0.0:0.7898:0.0:0.2102	.	.	.	.	F	206	.	.	L	+	1	0	NAV1	200018207	0.994000	0.37717	0.089000	0.20774	0.990000	0.78478	1.484000	0.35508	0.373000	0.24621	0.655000	0.94253	CTT		0.552	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		T	201751584	C	T	201751584	2	4	427	1	0	0	0	0	0	0	0	1	10185	796	28	2		2	NAV1	1	201751584	Silent	SNP	C	TCGA-BP-5177-01A-01D-1429-08	25696577	201751584	47499037	7	23405											
NCKAP5	344148	broad.mit.edu;ucsc.edu	37	2	133540492	133540492	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr2:133540492G>A	ENST00000409261.1	-	14	4265	c.3892C>T	c.(3892-3894)Cgc>Tgc	p.R1298C	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1298C	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1298								p.R1298C(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATCTGAGTGCGGACTTTGCCT	0.562																																																1	Substitution - Missense(1)	kidney(1)											85	86	85					2																	133540492		1963	4160	6123	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3892C>T	2.37:g.133540492G>A	ENSP00000387128:p.Arg1298Cys		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539279	0.65085	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.29917	1.55;1.55	5.5	5.5	0.81552	.	0.000000	0.33075	U	0.005314	T	0.47021	0.1423	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41360	-0.9513	10	0.87932	D	0	.	17.7704	0.88490	0.0:0.0:1.0:0.0	.	1298	O14513	NCKP5_HUMAN	C	1298	ENSP00000387128:R1298C;ENSP00000380603:R1298C	ENSP00000380603:R1298C	R	-	1	0	NCKAP5	133256962	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.549000	0.53681	2.854000	0.98071	0.655000	0.94253	CGC		0.562	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		A	133540492	G	A	133540492	3	1	427	1	0	0	0	0	1	0	0	0	10225	1116	39	1	1865	1	NCKAP5	2	133540492	Missense_Mutation	SNP	G	TCGA-BP-5177-01A-01D-1429-08		133540492	109658881	8	23406											
HOXD4	3233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	177016412	177016412	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr2:177016412C>G	ENST00000306324.3	+	1	463	c.51C>G	c.(49-51)ttC>ttG	p.F17L	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	17					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F17L(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACCCCAAGTTCCCTCCGTGCG	0.542																																																1	Substitution - Missense(1)	kidney(1)											48	52	50					2																	177016412		2187	4235	6422	SO:0001583	missense	3233				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.51C>G	2.37:g.177016412C>G	ENSP00000302548:p.Phe17Leu		B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447955	0.63178	.	.	ENSG00000170166	ENST00000306324	T	0.59772	0.24	5.12	-1.86	0.07760	.	0.249724	0.40728	N	0.001026	T	0.76364	0.3977	M	0.91717	3.235	0.53005	D	0.999968	D	0.89917	1.0	D	0.83275	0.996	T	0.78540	-0.2165	10	0.87932	D	0	.	11.2747	0.49159	0.0:0.3812:0.0:0.6188	.	17	P09016	HXD4_HUMAN	L	17	ENSP00000302548:F17L	ENSP00000302548:F17L	F	+	3	2	HOXD4	176724658	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	2.070000	0.41491	-0.223000	0.09943	0.655000	0.94253	TTC		0.542	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			G	177016412	C	G	177016412	3	3	427	1	0	0	0	0	1	0	0	0	7326	854	30	4	53	4	HOXD4	2	177016412	Missense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08	43475920	177016412	66182961	9	23407											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188246	10188246	+	Missense_Mutation	SNP	T	T	A	rs200131013		TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr3:10188246T>A	ENST00000256474.2	+	2	1229	c.389T>A	c.(388-390)gTt>gAt	p.V130D	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	130	Involved in binding to CCT complex.		V -> L (in ECYT2 and VHLD; type I). {ECO:0000269|PubMed:12393546, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V130D(2)|p.V130fs*28(1)|p.V130G(1)|p.V130fs*29(1)|p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGGCTTCTGGTTAACCAAACT	0.468		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	6	Substitution - Missense(3)|Deletion - Frameshift(3)	kidney(5)|adrenal_gland(1)											206	190	195					3																	10188246		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.389T>A	3.37:g.10188246T>A	ENSP00000256474:p.Val130Asp		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867600	0.72065	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99859	-7.24	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96589	0.9436	10	0.87932	D	0	-11.5971	13.0887	0.59156	0.0:0.0:0.0:1.0	.	130	P40337	VHL_HUMAN	D	130;48	ENSP00000256474:V130D	ENSP00000256474:V130D	V	+	2	0	VHL	10163246	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	4.319000	0.59197	2.047000	0.60756	0.460000	0.39030	GTT		0.468	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10188246	T	A	10188246	3	1	427	1	0	0	0	0	1	0	0	0	17167	1725	60	5	395	5	VHL	3	10188246	Missense_Mutation	SNP	T	TCGA-BP-5177-01A-01D-1429-08		10188246	187834184	10	23408											
SKIV2L	6499	broad.mit.edu;hgsc.bcm.edu	37	6	31928014	31928014	+	Missense_Mutation	SNP	C	C	T	rs146717555	byFrequency	TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr6:31928014C>T	ENST00000375394.2	+	4	367	c.254C>T	c.(253-255)aCg>aTg	p.T85M	NELFE_ENST00000375429.3_5'Flank|SKIV2L_ENST00000544581.1_Intron|NELFE_ENST00000444811.2_5'Flank|NELFE_ENST00000375425.5_5'Flank|SKIV2L_ENST00000488648.1_3'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	85					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.T85M(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAGAGGAAGACGGATCCCTGG	0.517													C|||	6	0.00119808	0.0015	0.0	5008	,	,		19617	0.004		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	MET/THR	1,3021		0,1,1510	135	167	155		254	2.7	1	6	dbSNP_134	155	0,5418		0,0,2709	yes	missense	SKIV2L	NM_006929.4	81	0,1,4219	TT,TC,CC		0.0,0.0331,0.0118	probably-damaging	85/1247	31928014	1,8439	1511	2709	4220	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.254C>T	6.37:g.31928014C>T	ENSP00000364543:p.Thr85Met		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	7.870	0.727989	0.15507	3.31E-4	0.0	ENSG00000204351	ENST00000375394	T	0.47177	0.85	4.61	2.73	0.32206	.	0.536612	0.18871	N	0.128829	T	0.16769	0.0403	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06162	-1.0842	10	0.32370	T	0.25	-3.7804	4.2799	0.10827	0.2668:0.5125:0.0:0.2207	.	85	Q15477	SKIV2_HUMAN	M	85	ENSP00000364543:T85M	ENSP00000364543:T85M	T	+	2	0	SKIV2L	32035993	0.001000	0.12720	0.967000	0.41034	0.928000	0.56348	-0.272000	0.08560	0.156000	0.19299	-0.797000	0.03246	ACG		0.517	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			T	31928014	C	T	31928014	3	4	427	1	0	0	0	0	1	0	0	0	14365	536	19	1	268	1	SKIV2L	6	31928014	Missense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08		31928014	139187053	11	23409											
AIM1	202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	106968602	106968602	+	Silent	SNP	G	G	A	rs200098719	byFrequency	TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr6:106968602G>A	ENST00000369066.3	+	2	2782	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.P765P(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAATGTCACCGGCTTTACATT	0.453													G|||	2	0.000399361	0.0	0.0	5008	,	,		20845	0.0		0.0	False		,,,				2504	0.002															1	Substitution - coding silent(1)	kidney(1)											75	75	75					6																	106968602		2203	4300	6503	SO:0001819	synonymous_variant	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2295G>A	6.37:g.106968602G>A			Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	CCDS34506.1																																																																																				0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			A	106968602	G	A	106968602	2	1	427	1	0	0	0	0	0	0	0	1	430	1103	39	1		1	AIM1	6	106968602	Silent	SNP	G	TCGA-BP-5177-01A-01D-1429-08	75040588	106968602	64146465	12	23410											
KIAA1244	57221	hgsc.bcm.edu;ucsc.edu	37	6	138601236	138601236	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr6:138601236delT	ENST00000251691.4	+	14	2562	c.2396delT	c.(2395-2397)cttfs	p.L799fs		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGAACATGCTTGGAGAGGCT	0.572																																																0													103	89	94					6																	138601236		2203	4300	6503	SO:0001589	frameshift_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2396delT	6.37:g.138601236delT	ENSP00000251691:p.Leu799fs			Frame_Shift_Del	DEL	ENST00000251691.4	37	CCDS5189.2																																																																																				0.572	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		-	138601236	T	-	138601236	7	5	427	1	0	1	0	1	0	0	0	0	8219	1609	56	0	2450	0	KIAA1244	6	138601236	Frame_Shift_Del	DEL	T	TCGA-BP-5177-01A-01D-1429-08	31632634	138601236	32513831	13	23411											
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21639591	21639591	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr7:21639591C>T	ENST00000409508.3	+	15	2885	c.2854C>T	c.(2854-2856)Cct>Tct	p.P952S	DNAH11_ENST00000328843.6_Missense_Mutation_p.P952S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	952	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P952S(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATCTTGTTGCCTCCTGAGAT	0.393									Kartagener syndrome																																							1	Substitution - Missense(1)	kidney(1)											82	78	79					7																	21639591		1846	4091	5937	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2854C>T	7.37:g.21639591C>T	ENSP00000475939:p.Pro952Ser		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	4.360	0.066314	0.08388	.	.	ENSG00000105877	ENST00000328843	T	0.21031	2.03	5.72	4.79	0.61399	.	0.336972	0.30930	N	0.008599	T	0.08179	0.0204	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.39272	-0.9622	9	0.09590	T	0.72	.	4.2519	0.10698	0.1321:0.5497:0.2321:0.0861	.	952	Q96DT5	DYH11_HUMAN	S	952	ENSP00000330671:P952S	ENSP00000330671:P952S	P	+	1	0	DNAH11	21606116	0.000000	0.05858	0.998000	0.56505	0.807000	0.45602	0.594000	0.24014	2.865000	0.98341	0.655000	0.94253	CCT		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		T	21639591	C	T	21639591	3	4	427	1	0	0	0	0	1	0	0	0	4601	739	26	2	2912	2	DNAH11	7	21639591	Missense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08		21639591	137499072	14	23412											
KCTD7	154881	hgsc.bcm.edu;ucsc.edu	37	7	66103415	66103415	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr7:66103415A>G	ENST00000275532.3	+	3	674	c.490A>G	c.(490-492)Aaa>Gaa	p.K164E	KCTD7_ENST00000443322.1_Missense_Mutation_p.K164E	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	164					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCCTATTACAAAGGTGAGGG	0.577																																																0													77	64	69					7																	66103415		2203	4300	6503	SO:0001583	missense	154881			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.490A>G	7.37:g.66103415A>G	ENSP00000275532:p.Lys164Glu		A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	CCDS5534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	19.16|19.16	3.773324|3.773324	0.69992|0.69992	.|.	.|.	ENSG00000243335|ENSG00000243335	ENST00000275532;ENST00000443322|ENST00000449064	T;T|.	0.77877|.	-1.13;-1.13|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.38058	.|N	.|0.001839	T|T	0.62672|0.62672	0.2447|0.2447	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	B|.	0.16802|.	0.019|.	B|.	0.11329|.	0.006|.	T|T	0.66440|0.66440	-0.5923|-0.5923	9|7	0.11485|0.87932	T|D	0.65|0	.|.	14.3083|14.3083	0.66397|0.66397	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	164|.	Q96MP8|.	KCTD7_HUMAN|.	E|R	164|107	ENSP00000275532:K164E;ENSP00000411624:K164E|.	ENSP00000275532:K164E|ENSP00000388463:Q107R	K|Q	+|+	1|2	0|0	KCTD7|KCTD7	65740850|65740850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	6.684000|6.684000	0.74538|0.74538	2.164000|2.164000	0.68074|0.68074	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.577	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		G	66103415	A	G	66103415	3	3	427	1	0	0	0	0	1	0	0	0	8116	131	5	3	500	3	KCTD7	7	66103415	Missense_Mutation	SNP	A	TCGA-BP-5177-01A-01D-1429-08	44463824	66103415	93035248	15	23413											
NOL8	55035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95077535	95077535	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr9:95077535C>T	ENST00000535387.1	-	6	1371	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	NOL8_ENST00000358855.4_Missense_Mutation_p.D390N|NOL8_ENST00000442668.2_Missense_Mutation_p.D458N|NOL8_ENST00000545558.1_Missense_Mutation_p.D458N|NOL8_ENST00000542053.1_Missense_Mutation_p.D390N					nucleolar protein 8									p.D460N(1)|p.D458N(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GAATCAGCATCTTCACTGCTA	0.393																																																2	Substitution - Missense(2)	kidney(2)											62	59	60					9																	95077535		1912	4133	6045	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1372G>A	9.37:g.95077535C>T	ENSP00000441300:p.Asp458Asn			Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257743	0.39896	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.19669	2.39;2.39;2.39;2.62;2.39;2.13	5.25	1.3	0.21679	.	0.837401	0.10918	N	0.619806	T	0.13543	0.0328	L	0.27053	0.805	0.09310	N	1	B	0.20780	0.048	B	0.18561	0.022	T	0.29518	-1.0009	10	0.33940	T	0.23	-5.6827	7.1807	0.25770	0.0:0.4071:0.0:0.5929	.	458	Q76FK4	NOL8_HUMAN	N	458;460;390;458;458;390;458	ENSP00000401177:D458N;ENSP00000351723:D390N;ENSP00000441140:D458N;ENSP00000441300:D458N;ENSP00000440709:D390N;ENSP00000414112:D458N	ENSP00000351723:D390N	D	-	1	0	NOL8	94117356	0.008000	0.16893	0.035000	0.18076	0.955000	0.61496	1.292000	0.33342	0.303000	0.22785	0.655000	0.94253	GAT		0.393	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		T	95077535	C	T	95077535	3	4	427	1	0	0	0	0	1	0	0	0	10529	913	32	2	2175	2	NOL8	9	95077535	Missense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08		95077535	46135896	16	23414											
BMS1	9790	hgsc.bcm.edu	37	10	43315792	43315792	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr10:43315792delT	ENST00000374518.5	+	16	2752	c.2689delT	c.(2689-2691)tttfs	p.F897fs		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	897					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCCTGTGAATTTGTGCAGAA	0.478																																																0													106	104	105					10																	43315792		2203	4300	6503	SO:0001589	frameshift_variant	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2689delT	10.37:g.43315792delT	ENSP00000363642:p.Phe897fs		Q5QPT5|Q86XJ9	Frame_Shift_Del	DEL	ENST00000374518.5	37	CCDS7199.1																																																																																				0.478	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		-	43315792	T	-	43315792	7	5	427	1	0	1	0	1	0	0	0	0	1472	1493	52	0	2747	0	BMS1	10	43315792	Frame_Shift_Del	DEL	T	TCGA-BP-5177-01A-01D-1429-08		43315792	92218955	17	23415											
EPS8L2	64787	broad.mit.edu	37	11	726936	726936	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr11:726936G>C	ENST00000533256.1	+	22	2478	c.2103G>C	c.(2101-2103)atG>atC	p.M701I	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.M701I|EPS8L2_ENST00000530636.1_Missense_Mutation_p.M701I|EPS8L2_ENST00000534449.1_Intron|EPS8L2_ENST00000526198.1_Missense_Mutation_p.M717I			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	701					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)	p.M701I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGAACTCATGAACAAGTTTC	0.627																																																1	Substitution - Missense(1)	kidney(1)											40	38	39					11																	726936		2202	4300	6502	SO:0001583	missense	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.2103G>C	11.37:g.726936G>C	ENSP00000435585:p.Met701Ile		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.985410	0.53934	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.14	4.14	0.48551	.	0.138296	0.42821	U	0.000657	T	0.13927	0.0337	L	0.46819	1.47	0.40909	D	0.984215	B;B	0.10296	0.003;0.002	B;B	0.08055	0.002;0.003	T	0.04294	-1.0962	10	0.62326	D	0.03	-43.5183	12.3108	0.54927	0.0:0.0:1.0:0.0	.	717;701	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	I	701;701;701;717	ENSP00000320828:M701I;ENSP00000435585:M701I;ENSP00000436035:M701I;ENSP00000436230:M717I	ENSP00000320828:M701I	M	+	3	0	EPS8L2	716936	0.993000	0.37304	0.989000	0.46669	0.978000	0.69477	1.230000	0.32612	2.034000	0.60081	0.561000	0.74099	ATG		0.627	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		C	726936	G	C	726936	3	2	427	1	0	0	0	0	1	0	0	0	5198	1290	45	4	2181	4	EPS8L2	11	726936	Missense_Mutation	SNP	G	TCGA-BP-5177-01A-01D-1429-08		726936	134279580	18	23416											
GNG3	2785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62475843	62475843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr11:62475843G>T	ENST00000294117.5	+	2	335	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	BSCL2_ENST00000278893.7_5'Flank|BSCL2_ENST00000405837.1_Intron|BSCL2_ENST00000421906.1_5'Flank|BSCL2_ENST00000433053.1_Intron|HNRNPUL2-BSCL2_ENST00000403734.2_Intron|BSCL2_ENST00000537604.1_5'Flank|BSCL2_ENST00000403550.1_5'Flank|BSCL2_ENST00000360796.5_5'Flank|BSCL2_ENST00000407022.3_5'Flank	NM_012202.4	NP_036334.1	P63215	GBG3_HUMAN	guanine nucleotide binding protein (G protein), gamma 3	26					activation of MAPK activity (GO:0000187)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.E26*(1)		kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						GCTTAAGATTGAAGCCAGCTT	0.522																																																1	Substitution - Nonsense(1)	kidney(1)											148	137	141					11																	62475843		2202	4299	6501	SO:0001587	stop_gained	2785			AF075042	CCDS8032.1	11p11	2008-07-18				ENSG00000162188			4405	protein-coding gene	gene with protein product	"guanine nucleotide-binding protein gamma-3 subunit", "NBP gamma-3"	608941				10644457	Standard	NM_012202		Approved		uc001nuv.4	P63215		ENST00000294117.5:c.76G>T	11.37:g.62475843G>T	ENSP00000294117:p.Glu26*		B2R4S7|P29798|Q61014	Nonsense_Mutation	SNP	ENST00000294117.5	37	CCDS8032.1	.	.	.	.	.	.	.	.	.	.	G	37	6.163708	0.97338	.	.	ENSG00000162188	ENST00000294117	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.4826	16.5279	0.84336	0.0:0.0:1.0:0.0	.	.	.	.	X	26	.	ENSP00000294117:E26X	E	+	1	0	GNG3	62232419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.200000	0.95010	2.559000	0.86315	0.558000	0.71614	GAA		0.522	GNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395020.1	NM_012202		T	62475843	G	T	62475843	4	4	427	1	0	0	0	0	0	1	0	0	6530	1291	45	4	78	4	GNG3	11	62475843	Nonsense_Mutation	SNP	G	TCGA-BP-5177-01A-01D-1429-08	61748907	62475843	72530673	19	23417											
NXPH4	11247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57619419	57619419	+	Silent	SNP	G	G	A			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr12:57619419G>A	ENST00000349394.5	+	2	991	c.816G>A	c.(814-816)aaG>aaA	p.K272K	Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	272	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.K272K(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TCTGTGCCAAGCCCTTCAAAG	0.577																																																2	Substitution - coding silent(2)	kidney(2)											58	64	62					12																	57619419		2203	4300	6503	SO:0001819	synonymous_variant	11247			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.816G>A	12.37:g.57619419G>A			A8K4I4|Q7Z6L3|Q8N462	Silent	SNP	ENST00000349394.5	37	CCDS8933.1																																																																																				0.577	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		A	57619419	G	A	57619419	2	1	427	1	0	0	0	0	0	0	0	1	10795	962	34	2		2	NXPH4	12	57619419	Silent	SNP	G	TCGA-BP-5177-01A-01D-1429-08		57619419	76232476	20	23418											
SRGAP1	57522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	64377783	64377783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr12:64377783C>T	ENST00000355086.3	+	2	648	c.124C>T	c.(124-126)Cga>Tga	p.R42*	SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.R42*|SRGAP1_ENST00000543397.1_Nonsense_Mutation_p.R2*	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	42	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.R42*(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AACGGAGATGCGAGTTCAGCT	0.408																																																1	Substitution - Nonsense(1)	kidney(1)											100	105	103					12																	64377783		2203	4300	6503	SO:0001587	stop_gained	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.124C>T	12.37:g.64377783C>T	ENSP00000347198:p.Arg42*		Q9H8A3|Q9P2P2	Nonsense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	50	16.112195	0.99854	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	.	.	.	4.89	1.77	0.24775	.	0.000000	0.31323	U	0.007858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.134	0.59399	0.6616:0.3384:0.0:0.0	.	.	.	.	X	42;42;2	.	.	R	+	1	2	SRGAP1	62664050	0.996000	0.38824	1.000000	0.80357	0.974000	0.67602	0.482000	0.22276	0.566000	0.29273	0.585000	0.79938	CGA		0.408	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			T	64377783	C	T	64377783	4	4	427	1	0	0	0	0	0	1	0	0	15150	760	27	1	130	1	SRGAP1	12	64377783	Nonsense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08	6758364	64377783	69474112	21	23419											
ADPRHL1	113622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	114107552	114107552	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr13:114107552C>G	ENST00000375418.3	-	1	287	c.201G>C	c.(199-201)gaG>gaC	p.E67D		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	67					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)	p.E67D(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGGTGAGGGCCTCGGCGGTTG	0.642																																																1	Substitution - Missense(1)	kidney(1)											102	85	90					13																	114107552		2203	4300	6503	SO:0001583	missense	113622			AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.201G>C	13.37:g.114107552C>G	ENSP00000364567:p.Glu67Asp		Q5JUG2|Q96GD1	Missense_Mutation	SNP	ENST00000375418.3	37	CCDS9535.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030951	0.54790	.	.	ENSG00000153531	ENST00000375418	T	0.34667	1.35	5.73	3.99	0.46301	.	0.302391	0.34700	N	0.003745	T	0.27594	0.0678	L	0.47716	1.5	0.33353	D	0.571372	P	0.36354	0.549	B	0.34536	0.185	T	0.34976	-0.9807	10	0.23302	T	0.38	-14.1943	8.6898	0.34260	0.0:0.7116:0.0:0.2884	.	67	Q8NDY3	ARHL1_HUMAN	D	67	ENSP00000364567:E67D	ENSP00000364567:E67D	E	-	3	2	ADPRHL1	113155553	1.000000	0.71417	0.616000	0.29078	0.649000	0.38597	1.577000	0.36515	0.753000	0.32945	0.655000	0.94253	GAG		0.642	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		G	114107552	C	G	114107552	3	3	427	1	0	0	0	0	1	0	0	0	332	680	24	4	891	4	ADPRHL1	13	114107552	Missense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08		114107552	1062326	22	23420											
SMOC1	64093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	70459140	70459140	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr14:70459140G>A	ENST00000381280.4	+	6	786	c.533G>A	c.(532-534)gGg>gAg	p.G178E	SMOC1_ENST00000361956.3_Missense_Mutation_p.G178E	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	178					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.G178E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TCAGATGACGGGTCTAAGCCG	0.443																																																1	Substitution - Missense(1)	kidney(1)											152	150	151					14																	70459140		2203	4300	6503	SO:0001583	missense	64093			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.533G>A	14.37:g.70459140G>A	ENSP00000370680:p.Gly178Glu		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.565983	0.86439	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.57595	0.39;0.4	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	L	0.29908	0.895	0.80722	D	1	B;D	0.89917	0.176;1.0	B;D	0.87578	0.122;0.998	T	0.58352	-0.7651	10	0.27785	T	0.31	-20.4292	18.9222	0.92529	0.0:0.0:1.0:0.0	.	178;178	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	E	178	ENSP00000355110:G178E;ENSP00000370680:G178E	ENSP00000355110:G178E	G	+	2	0	SMOC1	69528893	1.000000	0.71417	0.936000	0.37596	0.900000	0.52787	9.714000	0.98744	2.483000	0.83821	0.561000	0.74099	GGG		0.443	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			A	70459140	G	A	70459140	3	1	427	1	0	0	0	0	1	0	0	0	14807	1232	43	2	555	2	SMOC1	14	70459140	Missense_Mutation	SNP	G	TCGA-BP-5177-01A-01D-1429-08		70459140	36890400	23	23421											
UBR7	55148	hgsc.bcm.edu;ucsc.edu	37	14	93686659	93686659	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr14:93686659delA	ENST00000013070.6	+	9	1261	c.1025delA	c.(1024-1026)gaafs	p.E342fs	UBR7_ENST00000416753.1_Frame_Shift_Del_p.E266fs	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	342							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						CTGGCTTATGAAAACAAAGGG	0.408																																																0													134	135	135					14																	93686659		2203	4300	6503	SO:0001589	frameshift_variant	55148			AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"Ubiquitin protein ligase E3 component n-recognins"	20344	protein-coding gene	gene with protein product		613816	"chromosome 14 open reading frame 130"	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.1025delA	14.37:g.93686659delA	ENSP00000013070:p.Glu342fs		Q86U21|Q86UA9|Q96BY0|Q9NVV6	Frame_Shift_Del	DEL	ENST00000013070.6	37	CCDS9909.1																																																																																				0.408	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		-	93686659	A	-	93686659	7	5	427	1	0	1	0	1	0	0	0	0	16911	246	9	0	1059	0	UBR7	14	93686659	Frame_Shift_Del	DEL	A	TCGA-BP-5177-01A-01D-1429-08	23227519	93686659	13662881	24	23422											
TECPR2	9895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	102901086	102901086	+	Silent	SNP	C	C	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr14:102901086C>T	ENST00000359520.7	+	9	2158	c.1932C>T	c.(1930-1932)ctC>ctT	p.L644L	TECPR2_ENST00000558678.1_Silent_p.L644L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	644					autophagy (GO:0006914)|cell death (GO:0008219)			p.L644L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AAGTCCCCCTCCTGAACTCAC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											41	37	39					14																	102901086		2203	4300	6503	SO:0001819	synonymous_variant	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1932C>T	14.37:g.102901086C>T			A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	CCDS32162.1																																																																																				0.592	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		T	102901086	C	T	102901086	2	4	427	1	0	0	0	0	0	0	0	1	15749	842	30	2		2	TECPR2	14	102901086	Silent	SNP	C	TCGA-BP-5177-01A-01D-1429-08	9214427	102901086	4448454	25	23423											
MAPKBP1	23005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42108803	42108803	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr15:42108803C>A	ENST00000456763.2	+	14	1754	c.1558C>A	c.(1558-1560)Cat>Aat	p.H520N	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.H353N|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.H397N|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.H514N|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.H514N	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	520								p.H514N(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGTGGAGGCCCATGACTCTGA	0.577																																																1	Substitution - Missense(1)	kidney(1)											90	74	80					15																	42108803		2203	4300	6503	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1558C>A	15.37:g.42108803C>A	ENSP00000393099:p.His520Asn		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	35	5.505908	0.96371	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.72394	0.77;0.77;0.51;-0.65;0.51	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90397	0.6994	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.999;0.998;1.0;1.0	D	0.92745	0.6211	10	0.87932	D	0	-12.4383	20.2985	0.98592	0.0:1.0:0.0:0.0	.	353;397;514;520;514	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	N	514;397;353;520;514	ENSP00000397570:H514N;ENSP00000221214:H397N;ENSP00000260357:H353N;ENSP00000393099:H520N;ENSP00000426154:H514N	ENSP00000221214:H397N	H	+	1	0	MAPKBP1	39896095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.623000	0.83113	2.793000	0.96121	0.655000	0.94253	CAT		0.577	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		A	42108803	C	A	42108803	3	1	427	1	0	0	0	0	1	0	0	0	9294	594	21	4	1608	4	MAPKBP1	15	42108803	Missense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08		42108803	60422589	26	23424											
PLA2G4F	255189	broad.mit.edu;hgsc.bcm.edu	37	15	42446347	42446347	+	Silent	SNP	G	G	A			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr15:42446347G>A	ENST00000382396.4	-	4	479	c.393C>T	c.(391-393)gaC>gaT	p.D131D	PLA2G4F_ENST00000397272.3_Silent_p.D131D			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	131	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.D131D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGCTTCTCAGGTCAAACAGGA	0.612																																																1	Substitution - coding silent(1)	kidney(1)											96	88	91					15																	42446347		2203	4299	6502	SO:0001819	synonymous_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.393C>T	15.37:g.42446347G>A			Q6ZMC8	Silent	SNP	ENST00000382396.4	37	CCDS32204.1																																																																																				0.612	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		A	42446347	G	A	42446347	2	1	427	1	0	0	0	0	0	0	0	1	12008	1252	44	2		2	PLA2G4F	15	42446347	Silent	SNP	G	TCGA-BP-5177-01A-01D-1429-08	337544	42446347	60085045	27	23425											
TBC1D24	57465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2546654	2546654	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr16:2546654A>G	ENST00000293970.5	+	2	638	c.505A>G	c.(505-507)Atc>Gtc	p.I169V	TBC1D24_ENST00000434757.2_Missense_Mutation_p.I169V|TBC1D24_ENST00000567020.1_Missense_Mutation_p.I169V|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.I169V	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	169	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)	p.I169V(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CAGGAGGCTGATCGACCAGAG	0.637																																																1	Substitution - Missense(1)	kidney(1)											29	33	32					16																	2546654		2172	4271	6443	SO:0001583	missense	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.505A>G	16.37:g.2546654A>G	ENSP00000293970:p.Ile169Val		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	A	4.276	0.050325	0.08243	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.10860	2.83;2.83	5.41	-1.19	0.09585	Rab-GAP/TBC domain (2);	0.531595	0.21026	N	0.081438	T	0.05135	0.0137	N	0.20685	0.6	0.09310	N	0.999998	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.15052	0.009;0.012;0.007	T	0.42599	-0.9442	10	0.15499	T	0.54	-14.3859	6.4451	0.21871	0.4478:0.1417:0.4106:0.0	.	169;169;169	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	V	169	ENSP00000293970:I169V;ENSP00000390106:I169V	ENSP00000293970:I169V	I	+	1	0	TBC1D24	2486655	0.001000	0.12720	0.001000	0.08648	0.356000	0.29392	0.022000	0.13511	-0.178000	0.10672	-0.304000	0.09214	ATC		0.637	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		G	2546654	A	G	2546654	3	3	427	1	0	0	0	0	1	0	0	0	15619	333	12	3	507	3	TBC1D24	16	2546654	Missense_Mutation	SNP	A	TCGA-BP-5177-01A-01D-1429-08		2546654	87808099	28	23426											
TOB1	10140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48941286	48941286	+	Silent	SNP	T	T	C			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr17:48941286T>C	ENST00000268957.3	-	3	521	c.93A>G	c.(91-93)gaA>gaG	p.E31E	TOB1_ENST00000499247.2_Silent_p.E31E|TOB1-AS1_ENST00000416263.3_RNA|TOB1_ENST00000509385.1_5'UTR|TOB1-AS1_ENST00000523470.1_RNA	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	31					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)	p.E31E(1)|p.R22fs*5(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GTCTTTCAAGTTCTTCACCAA	0.383																																					NSCLC(144;643 1919 24513 29423 40686)											2	Deletion - Frameshift(1)|Substitution - coding silent(1)	liver(1)|kidney(1)											102	105	104					17																	48941286		2203	4300	6503	SO:0001819	synonymous_variant	10140			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.93A>G	17.37:g.48941286T>C			B2R9T0|D3DTY3|Q4KMQ0	Silent	SNP	ENST00000268957.3	37	CCDS11576.1																																																																																				0.383	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			C	48941286	T	C	48941286	2	2	427	1	0	0	0	0	0	0	0	1	16352	1722	60	3		3	TOB1	17	48941286	Silent	SNP	T	TCGA-BP-5177-01A-01D-1429-08		48941286	32253924	29	23427											
ABCA8	10351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	66881449	66881449	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr17:66881449A>G	ENST00000269080.2	-	25	3454	c.3317T>C	c.(3316-3318)gTa>gCa	p.V1106A	ABCA8_ENST00000586539.1_Missense_Mutation_p.V1146A|ABCA8_ENST00000430352.2_Missense_Mutation_p.V1146A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1106					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.V1106A(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CACAGAGAATACAGTGACCTA	0.353																																																1	Substitution - Missense(1)	kidney(1)											73	68	70					17																	66881449		2203	4300	6503	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3317T>C	17.37:g.66881449A>G	ENSP00000269080:p.Val1106Ala		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	8.494	0.862704	0.17178	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.83250	-1.7;-1.7	4.43	2.21	0.28008	.	1.892740	0.02715	N	0.113266	T	0.72724	0.3496	N	0.17082	0.46	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.005;0.001;0.008	T	0.59231	-0.7493	10	0.51188	T	0.08	.	6.0925	0.20003	0.7969:0.0:0.2031:0.0	.	1146;1146;1106	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	A	1106;1146	ENSP00000269080:V1106A;ENSP00000402814:V1146A	ENSP00000269080:V1106A	V	-	2	0	ABCA8	64393044	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.654000	0.24918	0.464000	0.27142	0.533000	0.62120	GTA		0.353	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		G	66881449	A	G	66881449	3	3	427	1	0	0	0	0	1	0	0	0	38	391	14	3	1484	3	ABCA8	17	66881449	Missense_Mutation	SNP	A	TCGA-BP-5177-01A-01D-1429-08	17940163	66881449	14313761	30	23428											
CABLES1	91768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	20716478	20716478	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr18:20716478C>T	ENST00000256925.7	+	1	752	c.752C>T	c.(751-753)gCc>gTc	p.A251V	CABLES1_ENST00000400473.2_Intron|AC105247.1_ENST00000411067.1_RNA	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	251	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.A251V(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGCCCATCGCCTTCTCCAGG	0.682																																																1	Substitution - Missense(1)	kidney(1)											17	20	19					18																	20716478		2001	4168	6169	SO:0001583	missense	91768			BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.752C>T	18.37:g.20716478C>T	ENSP00000256925:p.Ala251Val		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483455	0.44147	.	.	ENSG00000134508	ENST00000256925	T	0.50813	0.73	3.66	1.72	0.24424	.	0.214853	0.39146	N	0.001446	T	0.30696	0.0773	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06075	-1.0847	10	0.54805	T	0.06	-17.0022	8.7308	0.34498	0.0:0.7491:0.1529:0.098	.	251	Q8TDN4	CABL1_HUMAN	V	251	ENSP00000256925:A251V	ENSP00000256925:A251V	A	+	2	0	CABLES1	18970476	0.996000	0.38824	0.992000	0.48379	0.727000	0.41649	1.845000	0.39279	0.006000	0.14734	-1.598000	0.00824	GCC		0.682	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		T	20716478	C	T	20716478	3	4	427	1	0	0	0	0	1	0	0	0	2531	739	26	2	754	2	CABLES1	18	20716478	Missense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08		20716478	57360770	31	23429											
GALNT1	2589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33272259	33272259	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr18:33272259C>A	ENST00000269195.5	+	8	1377	c.1274C>A	c.(1273-1275)cCa>cAa	p.P425Q	GALNT1_ENST00000537549.1_Missense_Mutation_p.P365Q	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	425					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P425Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCTCAAATTCCACGTCACTAT	0.299																																																1	Substitution - Missense(1)	kidney(1)											108	105	106					18																	33272259		2203	4298	6501	SO:0001583	missense	2589				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1274C>A	18.37:g.33272259C>A	ENSP00000269195:p.Pro425Gln		Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795892	0.90453	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.65732	-0.17;-0.17	5.6	5.6	0.85130	Ricin B-related lectin (1);	0.000000	0.85682	D	0.000000	D	0.84474	0.5480	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.88117	0.2829	10	0.72032	D	0.01	.	17.1142	0.86684	0.0:1.0:0.0:0.0	.	425	Q10472	GALT1_HUMAN	Q	425;425;365	ENSP00000269195:P425Q;ENSP00000440910:P365Q	ENSP00000269195:P425Q	P	+	2	0	GALNT1	31526257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.636000	0.89361	0.655000	0.94253	CCA		0.299	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		A	33272259	C	A	33272259	3	1	427	1	0	0	0	0	1	0	0	0	6209	594	21	4	1304	4	GALNT1	18	33272259	Missense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08	12555781	33272259	44804989	32	23430											
TBXA2R	6915	broad.mit.edu	37	19	3600380	3600380	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr19:3600380C>T	ENST00000375190.4	-	2	646	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.V85M|TBXA2R_ENST00000589966.1_Missense_Mutation_p.V85M	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	85					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)	p.V85M(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TGGGACACCACGATGGTACCG	0.672																																																1	Substitution - Missense(1)	kidney(1)											37	50	45					19																	3600380		2160	4241	6401	SO:0001583	missense	6915				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.253G>A	19.37:g.3600380C>T	ENSP00000364336:p.Val85Met		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395871	0.62177	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.36157	1.27;1.27	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.62380	0.2423	M	0.86864	2.845	0.46336	D	0.998993	D;D	0.89917	1.0;1.0	D;D	0.81914	0.971;0.995	T	0.68330	-0.5437	10	0.72032	D	0.01	-40.3503	11.1733	0.48584	0.0:0.9071:0.0:0.0929	.	85;85	P21731;E2QRJ2	TA2R_HUMAN;.	M	85	ENSP00000393333:V85M;ENSP00000364336:V85M	ENSP00000364336:V85M	V	-	1	0	TBXA2R	3551380	1.000000	0.71417	0.934000	0.37439	0.275000	0.26752	3.809000	0.55606	2.296000	0.77279	0.313000	0.20887	GTG		0.672	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			T	3600380	C	T	3600380	3	4	427	1	0	0	0	0	1	0	0	0	15668	536	19	1	1031	1	TBXA2R	19	3600380	Missense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08		3600380	55528603	33	23431											
TIMM44	10469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7999040	7999040	+	Silent	SNP	C	C	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr19:7999040C>T	ENST00000270538.3	-	5	745	c.477G>A	c.(475-477)tcG>tcA	p.S159S	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	159					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.S159S(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CCGACTCGGCCGACTGCTTGG	0.607																																																1	Substitution - coding silent(1)	kidney(1)											83	90	88					19																	7999040		2203	4300	6503	SO:0001819	synonymous_variant	10469			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.477G>A	19.37:g.7999040C>T			A8K0R9|D6W664|Q8N193	Silent	SNP	ENST00000270538.3	37	CCDS12192.1																																																																																				0.607	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			T	7999040	C	T	7999040	2	4	427	1	0	0	0	0	0	0	0	1	15917	639	23	1		1	TIMM44	19	7999040	Silent	SNP	C	TCGA-BP-5177-01A-01D-1429-08	4398660	7999040	51129943	34	23432											
NCAN	1463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19329874	19329874	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr19:19329874G>T	ENST00000252575.6	+	3	323	c.224G>T	c.(223-225)cGg>cTg	p.R75L		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	75	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R89L(1)|p.R75L(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GATGCCCCTCGGATAAAGTGG	0.657																																																2	Substitution - Missense(2)	kidney(2)											49	45	46					19																	19329874		2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.224G>T	19.37:g.19329874G>T	ENSP00000252575:p.Arg75Leu		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369316	0.82463	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.66280	-0.2	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34750	N	0.003709	T	0.81235	0.4780	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85254	0.1046	10	0.87932	D	0	-26.0897	14.8061	0.69956	0.0:0.0:1.0:0.0	.	75	O14594	NCAN_HUMAN	L	89;75	ENSP00000252575:R75L	ENSP00000252575:R75L	R	+	2	0	NCAN	19190874	1.000000	0.71417	0.991000	0.47740	0.671000	0.39405	9.198000	0.94994	2.060000	0.61445	0.491000	0.48974	CGG		0.657	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		T	19329874	G	T	19329874	3	4	427	1	0	0	0	0	1	0	0	0	10206	1116	39	4	230	4	NCAN	19	19329874	Missense_Mutation	SNP	G	TCGA-BP-5177-01A-01D-1429-08	11330834	19329874	39799109	35	23433											
TSSK6	51079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19625999	19625999	+	5'Flank	SNP	C	C	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr19:19625999C>T	ENST00000507754.4	+	0	0				NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.E80K|YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.E80K			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.E80K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TTGCACACCTCGATGAACTCG	0.657																																																1	Substitution - Missense(1)	kidney(1)											58	53	55					19																	19625999		2203	4300	6503	SO:0001631	upstream_gene_variant	83983			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625999C>T	Exception_encountered		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728939	0.89390	.	.	ENSG00000178093	ENST00000360913	T	0.66460	-0.21	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41938	U	0.000788	T	0.71031	0.3292	M	0.65498	2.005	0.54753	D	0.999989	D	0.56968	0.978	P	0.49451	0.611	T	0.76189	-0.3050	10	0.87932	D	0	.	13.4981	0.61438	0.0:1.0:0.0:0.0	.	80	Q9BXA6	TSSK6_HUMAN	K	80	ENSP00000354168:E80K	ENSP00000354168:E80K	E	-	1	0	TSSK6	19486999	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	3.679000	0.54634	2.252000	0.74401	0.306000	0.20318	GAG		0.657	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		T	19625999	C	T	19625999	1	4	427	0	1	0	0	0	0	0	0	0	16677	893	31	1		1	TSSK6	19	19625999	5'Flank	SNP	C	TCGA-BP-5177-01A-01D-1429-08	296125	19625999	39502984	36	23434											
SPIB	6689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50926877	50926877	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr19:50926877G>A	ENST00000595883.1	+	5	380	c.355G>A	c.(355-357)Gca>Aca	p.A119T	SPIB_ENST00000597855.1_Intron|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.G253D|SPIB_ENST00000596074.1_Missense_Mutation_p.G47D|SPIB_ENST00000439922.2_Missense_Mutation_p.A28T|SPIB_ENST00000270632.7_Missense_Mutation_p.A119T	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	119					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A119T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGTTCCCCCGGCATATGCCCC	0.647																																																1	Substitution - Missense(1)	kidney(1)											60	51	54					19																	50926877		2203	4300	6503	SO:0001583	missense	6689				CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.355G>A	19.37:g.50926877G>A	ENSP00000471921:p.Ala119Thr		A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	8.542	0.873459	0.17322	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T;T	0.59502	0.26;1.9	3.99	2.95	0.34219	.	1.017170	0.07897	N	0.972034	T	0.65647	0.2711	L	0.51422	1.61	0.09310	N	1	B;P;D	0.63880	0.079;0.827;0.993	B;B;D	0.68192	0.025;0.342;0.956	T	0.51872	-0.8650	10	0.14656	T	0.56	-0.2949	7.6497	0.28342	0.1187:0.0:0.8813:0.0	.	28;119;119	B4DUG6;Q01892-2;Q01892	.;.;SPIB_HUMAN	T	119;28	ENSP00000270632:A119T;ENSP00000391877:A28T	ENSP00000270632:A119T	A	+	1	0	SPIB	55618689	0.498000	0.26075	0.024000	0.17045	0.198000	0.23893	2.489000	0.45285	1.015000	0.39444	0.462000	0.41574	GCA		0.647	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		A	50926877	G	A	50926877	3	1	427	1	0	0	0	0	1	0	0	0	15055	1203	42	2	373	2	SPIB	19	50926877	Missense_Mutation	SNP	G	TCGA-BP-5177-01A-01D-1429-08	31300878	50926877	8202106	37	23435											
ZNF480	147657	broad.mit.edu;hgsc.bcm.edu	37	19	52825621	52825621	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr19:52825621G>A	ENST00000595962.1	+	5	1184	c.1118G>A	c.(1117-1119)tGt>tAt	p.C373Y	ZNF480_ENST00000335090.6_Missense_Mutation_p.C296Y|ZNF480_ENST00000334564.7_Missense_Mutation_p.C330Y|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.C373Y(1)|p.C354Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CCTTACAAATGTAATGAATGT	0.378																																																2	Substitution - Missense(2)	kidney(2)											55	60	58					19																	52825621		2203	4300	6503	SO:0001583	missense	147657			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1118G>A	19.37:g.52825621G>A	ENSP00000471754:p.Cys373Tyr		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690571	0.29962	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	D;D;D	0.85088	-1.94;-1.94;-1.94	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92711	0.7683	M	0.90814	3.15	0.32937	D	0.517922	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93572	0.6905	9	0.87932	D	0	.	11.5389	0.50655	0.0:0.0:1.0:0.0	.	330;373	F8WEZ9;Q8WV37	.;ZN480_HUMAN	Y	373;330;296	ENSP00000417424:C373Y;ENSP00000334164:C330Y;ENSP00000335670:C296Y	ENSP00000334164:C330Y	C	+	2	0	ZNF480	57517433	1.000000	0.71417	0.112000	0.21494	0.042000	0.13812	4.726000	0.61986	1.225000	0.43566	0.461000	0.40582	TGT		0.378	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		A	52825621	G	A	52825621	3	1	427	1	0	0	0	0	1	0	0	0	17940	1377	48	2	1132	2	ZNF480	19	52825621	Missense_Mutation	SNP	G	TCGA-BP-5177-01A-01D-1429-08	1898744	52825621	6303362	38	23436											
ZNF304	57343	hgsc.bcm.edu;ucsc.edu	37	19	57865095	57865095	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr19:57865095delT	ENST00000282286.5	+	2	209	c.36delT	c.(34-36)agtfs	p.S12fs	CTC-444N24.13_ENST00000597973.1_RNA|ZNF304_ENST00000391705.3_Frame_Shift_Del_p.S12fs|ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000443917.2_Frame_Shift_Del_p.S12fs			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CATGGCAGAGTTGTGTGACCT	0.542																																																0													211	158	176					19																	57865095		2203	4300	6503	SO:0001589	frameshift_variant	57343			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.36delT	19.37:g.57865095delT	ENSP00000282286:p.Ser12fs			Frame_Shift_Del	DEL	ENST00000282286.5	37	CCDS12950.1																																																																																				0.542	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			-	57865095	T	-	57865095	7	5	427	1	0	1	0	1	0	0	0	0	17838	1722	60	0	42	0	ZNF304	19	57865095	Frame_Shift_Del	DEL	T	TCGA-BP-5177-01A-01D-1429-08	5039474	57865095	1263888	39	23437											
OGFR	11054	hgsc.bcm.edu	37	20	61444720	61444720	+	Missense_Mutation	SNP	A	A	C	rs79127826	byFrequency	TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr20:61444720A>C	ENST00000290291.6	+	7	1778	c.1753A>C	c.(1753-1755)Agc>Cgc	p.S585R	OGFR_ENST00000370461.1_Missense_Mutation_p.S533R	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	585	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CCCAGGCCCCAGCCCGGCAGG	0.746													A|||	22	0.00439297	0.0091	0.0029	5008	,	,		8761	0.005		0.001	False		,,,				2504	0.002															0								A	ARG/SER	6,3976		0,6,1985	6	13	11		1753	1.6	0	20	dbSNP_131	11	7,8255		0,7,4124	no	missense	OGFR	NM_007346.2	110	0,13,6109	CC,CA,AA		0.0847,0.1507,0.1062	benign	585/678	61444720	13,12231	1991	4131	6122	SO:0001583	missense	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1753A>C	20.37:g.61444720A>C	ENSP00000290291:p.Ser585Arg		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	N	5.084	0.201077	0.09652	0.001507	8.47E-4	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.13089	2.62;2.62	1.58	1.58	0.23477	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B;B;B	0.17465	0.022;0.022;0.022	B;B;B	0.11329	0.004;0.004;0.006	T	0.39057	-0.9632	9	0.28530	T	0.3	.	8.2141	0.31501	1.0:0.0:0.0:0.0	.	585;568;585	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	R	585;565;420;533	ENSP00000290291:S585R;ENSP00000359491:S533R	ENSP00000290291:S585R	S	+	1	0	OGFR	60915165	0.000000	0.05858	0.005000	0.12908	0.068000	0.16541	-2.717000	0.00813	0.680000	0.31366	0.076000	0.15429	AGC		0.746	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			C	61444720	A	C	61444720	3	2	427	1	0	0	0	0	1	0	0	0	10845	188	7	5	1779	5	OGFR	20	61444720	Missense_Mutation	SNP	A	TCGA-BP-5177-01A-01D-1429-08		61444720	1580800	40	23438											
WNT7B	7477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	46319160	46319160	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chr22:46319160C>T	ENST00000339464.4	-	4	1000	c.626G>A	c.(625-627)tGc>tAc	p.C209Y	WNT7B_ENST00000410089.1_Missense_Mutation_p.C193Y|WNT7B_ENST00000409496.3_Missense_Mutation_p.C213Y	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	209					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.C209Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TTTGGTGGTGCAGGAGCCAGA	0.647																																																1	Substitution - Missense(1)	kidney(1)											40	39	39					22																	46319160		2203	4300	6503	SO:0001583	missense	7477			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.626G>A	22.37:g.46319160C>T	ENSP00000341032:p.Cys209Tyr		B8A596|Q96Q12	Missense_Mutation	SNP	ENST00000339464.4	37	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635106	0.67130	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496	D;D;D	0.86865	-2.18;-2.18;-2.18	3.18	3.18	0.36537	Secreted growth factor Wnt protein, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.96005	0.8699	H	0.98951	4.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97274	0.9913	10	0.87932	D	0	.	13.6682	0.62409	0.0:1.0:0.0:0.0	.	213;209	A8K0G1;P56706	.;WNT7B_HUMAN	Y	209;193;213	ENSP00000341032:C209Y;ENSP00000386781:C193Y;ENSP00000386546:C213Y	ENSP00000341032:C209Y	C	-	2	0	WNT7B	44697824	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	7.529000	0.81952	1.493000	0.48517	0.305000	0.20034	TGC		0.647	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		T	46319160	C	T	46319160	3	4	427	1	0	0	0	0	1	0	0	0	17400	710	25	2	427	2	WNT7B	22	46319160	Missense_Mutation	SNP	C	TCGA-BP-5177-01A-01D-1429-08		46319160	4985406	41	23439											
CXorf26	51260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	75397644	75397644	+	Silent	SNP	A	A	G			TCGA-BP-5177-01A-01D-1429-08	TCGA-BP-5177-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad4cc7e3-c4d1-4cc0-9c93-33b47dadaaae	5b505dca-8443-4884-90a8-4514479783f8	g.chrX:75397644A>G	ENST00000373358.3	+	6	806	c.603A>G	c.(601-603)aaA>aaG	p.K201K	PBDC1_ENST00000373357.3_Missense_Mutation_p.K164R	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	201								p.K201K(1)									gagaagaaaaagaggaaggaa	0.403																																																1	Substitution - coding silent(1)	kidney(1)											114	109	111					X																	75397644		2203	4296	6499	SO:0001819	synonymous_variant	0			BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"chromosome X open reading frame 26"	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.603A>G	X.37:g.75397644A>G				Silent	SNP	ENST00000373358.3	37	CCDS14432.1	.	.	.	.	.	.	.	.	.	.	A	1.406	-0.576790	0.03854	.	.	ENSG00000102390	ENST00000373357	.	.	.	2.72	-1.98	0.07480	.	6.044570	0.00639	N	0.000504	T	0.35248	0.0925	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25187	-1.0139	6	0.66056	D	0.02	.	3.3976	0.07311	0.3652:0.2348:0.4:0.0	.	.	.	.	R	164	.	ENSP00000362455:K164R	K	+	2	0	CXorf26	75314047	1.000000	0.71417	0.261000	0.24466	0.188000	0.23474	1.497000	0.35649	-0.552000	0.06167	0.483000	0.47432	AAG		0.403	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057294.1	NM_016500		G	75397644	A	G	75397644	2	3	427	1	0	0	0	0	0	0	0	1	4106	69	3	3		3	CXorf26	23	75397644	Silent	SNP	A	TCGA-BP-5177-01A-01D-1429-08		75397644	79872916	42	23440											
TINAGL1	64129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32042883	32042883	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr1:32042883G>A	ENST00000271064.7	+	2	210	c.134G>A	c.(133-135)gGc>gAc	p.G45D	TINAGL1_ENST00000457433.2_Missense_Mutation_p.G45D|RP11-73M7.1_ENST00000435872.1_RNA|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_Missense_Mutation_p.G45D|TINAGL1_ENST00000441210.2_Missense_Mutation_p.G45D	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	45					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G45D(1)		breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GACGCGGGAGGCCGGTACTGC	0.706																																																1	Substitution - Missense(1)	kidney(1)											39	34	35					1																	32042883		2201	4298	6499	SO:0001583	missense	64129			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.134G>A	1.37:g.32042883G>A	ENSP00000271064:p.Gly45Asp		A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	35	5.506696	0.96386	.	.	ENSG00000142910	ENST00000457433;ENST00000441210;ENST00000271064;ENST00000537531;ENST00000403321	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.75929	-0.3144	10	0.87932	D	0	.	17.8316	0.88684	0.0:0.0:1.0:0.0	.	45;45;45	B4DPK6;E7EUP2;Q9GZM7	.;.;TINAL_HUMAN	D	45	ENSP00000395137:G45D;ENSP00000411798:G45D;ENSP00000271064:G45D;ENSP00000445392:G45D	ENSP00000271064:G45D	G	+	2	0	TINAGL1	31815470	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.146000	0.77373	2.618000	0.88619	0.655000	0.94253	GGC		0.706	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		A	32042883	G	A	32042883	3	1	428	1	0	0	0	0	1	0	0	0	15927	1203	42	2	136	2	TINAGL1	1	32042883	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08		32042883	217207738	1	23441											
KHDRBS1	10657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32504213	32504213	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr1:32504213A>T	ENST00000327300.7	+	7	1335	c.1168A>T	c.(1168-1170)Agt>Tgt	p.S390C	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.S351C|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1									p.S390C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTACAGCCAGAGTCAAGGGTG	0.408																																					Ovarian(173;401 1982 12359 31110 42403)											1	Substitution - Missense(1)	kidney(1)											125	110	115					1																	32504213		2203	4300	6503	SO:0001583	missense	10657			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"GAP-associated tyrosine phosphoprotein p62 (Sam68)"	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1168A>T	1.37:g.32504213A>T	ENSP00000313829:p.Ser390Cys			Missense_Mutation	SNP	ENST00000327300.7	37	CCDS350.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085225	0.76642	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.49432	0.78;0.79	5.33	4.04	0.47022	.	0.583053	0.20028	N	0.100765	T	0.48786	0.1519	L	0.50333	1.59	0.34601	D	0.716546	D;D	0.61697	0.983;0.99	B;P	0.53313	0.431;0.723	T	0.62798	-0.6778	10	0.72032	D	0.01	.	5.5018	0.16833	0.803:0.0:0.197:0.0	.	390;351	Q07666;Q07666-3	KHDR1_HUMAN;.	C	390;351;366	ENSP00000313829:S390C;ENSP00000417731:S351C	ENSP00000313829:S390C	S	+	1	0	KHDRBS1	32276800	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.170000	0.42443	2.157000	0.67596	0.533000	0.62120	AGT		0.408	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		T	32504213	A	T	32504213	3	4	428	1	0	0	0	0	1	0	0	0	8148	304	11	5	1194	5	KHDRBS1	1	32504213	Missense_Mutation	SNP	A	TCGA-BP-5178-01A-01D-1429-08	461330	32504213	216746408	2	23442											
COPA	1314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160302290	160302290	+	Missense_Mutation	SNP	G	G	C	rs375088629		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr1:160302290G>C	ENST00000241704.7	-	6	673	c.444C>G	c.(442-444)gaC>gaG	p.D148E	COPA_ENST00000368069.3_Missense_Mutation_p.D148E	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	148					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.D148E(2)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATACTACCAAGTCTTCTGTGG	0.468																																																2	Substitution - Missense(2)	kidney(2)						G	GLU/ASP,GLU/ASP	0,4406		0,0,2203	130	117	121		444,444	4.1	1	1		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COPA	NM_001098398.1,NM_004371.3	45,45	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	148/1234,148/1225	160302290	1,13005	2203	4300	6503	SO:0001583	missense	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.444C>G	1.37:g.160302290G>C	ENSP00000241704:p.Asp148Glu		Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505394	0.85282	0.0	1.16E-4	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.59364	0.27;0.27	5.05	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	N	0.12746	0.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.61267	-0.7097	10	0.87932	D	0	-20.7266	12.412	0.55471	0.0817:0.0:0.9183:0.0	.	148;148	P53621;P53621-2	COPA_HUMAN;.	E	148	ENSP00000357048:D148E;ENSP00000241704:D148E	ENSP00000241704:D148E	D	-	3	2	COPA	158568914	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.348000	0.73009	1.354000	0.45846	0.561000	0.74099	GAC		0.468	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		C	160302290	G	C	160302290	3	2	428	1	0	0	0	0	1	0	0	0	3729	1020	36	4	3369	4	COPA	1	160302290	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	127798077	160302290	88948331	3	23443											
KIF26B	55083	broad.mit.edu	37	1	245848753	245848753	+	Missense_Mutation	SNP	G	G	A	rs376166521		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr1:245848753G>A	ENST00000407071.2	+	12	2908	c.2468G>A	c.(2467-2469)cGc>cAc	p.R823H	KIF26B_ENST00000366518.4_Missense_Mutation_p.R442H	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	823					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R823H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAAGAAGGCCGCATGCGCAGG	0.647																																																2	Substitution - Missense(2)	kidney(2)						G	HIS/ARG	0,4364		0,0,2182	50	58	55		2468	5.8	0.5	1		55	1,8537		0,1,4268	no	missense	KIF26B	NM_018012.3	29	0,1,6450	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging	823/2109	245848753	1,12901	2182	4269	6451	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2468G>A	1.37:g.245848753G>A	ENSP00000385545:p.Arg823His		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743989	0.69418	0.0	1.17E-4	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.79247	-1.25;-1.22	5.84	5.84	0.93424	.	.	.	.	.	T	0.77103	0.4081	M	0.62266	1.93	0.46437	D	0.999048	P;P	0.42692	0.787;0.627	B;B	0.38106	0.198;0.265	T	0.77440	-0.2587	9	0.41790	T	0.15	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	442;823	B7WPD9;Q2KJY2	.;KI26B_HUMAN	H	823;442;439	ENSP00000385545:R823H;ENSP00000355475:R442H	ENSP00000355475:R442H	R	+	2	0	KIF26B	243915376	1.000000	0.71417	0.453000	0.27007	0.698000	0.40448	9.869000	0.99810	2.768000	0.95171	0.561000	0.74099	CGC		0.647	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		A	245848753	G	A	245848753	3	1	428	1	0	0	0	0	1	0	0	0	8297	1087	38	1	2514	1	KIF26B	1	245848753	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	85546463	245848753	3401868	4	23444											
GPR148	344561	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	131487497	131487497	+	Missense_Mutation	SNP	G	G	T	rs113110453		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr2:131487497G>T	ENST00000309926.4	+	1	855	c.773G>T	c.(772-774)cGg>cTg	p.R258L		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R258L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGCTATTCCCGGGCCAGGGGC	0.577																																																1	Substitution - Missense(1)	kidney(1)											119	112	114					2																	131487497		2203	4300	6503	SO:0001583	missense	344561			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.773G>T	2.37:g.131487497G>T	ENSP00000308908:p.Arg258Leu		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	15.04	2.714452	0.48622	.	.	ENSG00000173302	ENST00000309926	T	0.41758	0.99	2.87	-0.313	0.12754	GPCR, rhodopsin-like superfamily (1);	0.087538	0.41712	U	0.000825	T	0.35189	0.0923	N	0.24115	0.695	0.25094	N	0.990836	D	0.58268	0.982	P	0.56788	0.806	T	0.21415	-1.0246	10	0.72032	D	0.01	-7.6149	4.0145	0.09637	0.2374:0.0:0.578:0.1845	.	258	Q8TDV2	GP148_HUMAN	L	258	ENSP00000308908:R258L	ENSP00000308908:R258L	R	+	2	0	GPR148	131203967	1.000000	0.71417	0.001000	0.08648	0.848000	0.48234	2.781000	0.47750	-0.236000	0.09753	-0.521000	0.04368	CGG		0.577	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		T	131487497	G	T	131487497	3	4	428	1	0	0	0	0	1	0	0	0	6655	1116	39	4	775	4	GPR148	2	131487497	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08		131487497	111711876	5	23445											
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	142238027	142238027	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr2:142238027G>T	ENST00000389484.3	-	3	1252	c.281C>A	c.(280-282)tCc>tAc	p.S94Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	94	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S94Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCACAGCTGGGATAAATGAAC	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	kidney(1)											119	102	108					2																	142238027		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.281C>A	2.37:g.142238027G>T	ENSP00000374135:p.Ser94Tyr		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010424	0.54361	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95980	-3.87	5.51	5.51	0.81932	.	0.140035	0.48286	D	0.000188	D	0.96589	0.8887	M	0.73217	2.22	0.33736	D	0.618827	D	0.65815	0.995	D	0.63283	0.913	D	0.96344	0.9253	10	0.15499	T	0.54	.	15.2886	0.73849	0.0:0.1396:0.8604:0.0	.	94	Q9NZR2	LRP1B_HUMAN	Y	94;30	ENSP00000374135:S94Y	ENSP00000374135:S94Y	S	-	2	0	LRP1B	141954497	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	4.463000	0.60128	2.755000	0.94549	0.650000	0.86243	TCC		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	142238027	G	T	142238027	3	4	428	1	0	0	0	0	1	0	0	0	8957	1174	41	4	13874	4	LRP1B	2	142238027	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	10750530	142238027	100961346	6	23446											
NFE2L2	4780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178098956	178098956	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr2:178098956A>T	ENST00000397062.3	-	2	643	c.89T>A	c.(88-90)cTt>cAt	p.L30H	NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L30R(2)|p.L30H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTTACTCCAAGATCTATATC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	3	Substitution - Missense(3)	endometrium(2)|kidney(1)											68	61	63					2																	178098956		1839	4101	5940	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.89T>A	2.37:g.178098956A>T	ENSP00000380252:p.Leu30His		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.906080	0.72868	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.72959	-0.4133	10	0.87932	D	0	.	16.098	0.81144	1.0:0.0:0.0:0.0	.	14;14;14;30	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	14;30;14;14;14;14;14	ENSP00000380253:L14H;ENSP00000380252:L30H;ENSP00000411575:L14H;ENSP00000391590:L14H;ENSP00000400073:L14H;ENSP00000412191:L14H;ENSP00000410015:L14H	ENSP00000380252:L30H	L	-	2	0	NFE2L2	177807202	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.210000	0.71456	0.460000	0.39030	CTT		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		T	178098956	A	T	178098956	3	4	428	1	0	0	0	0	1	0	0	0	10370	72	3	5	1744	5	NFE2L2	2	178098956	Missense_Mutation	SNP	A	TCGA-BP-5178-01A-01D-1429-08	35860929	178098956	65100417	7	23447											
CPS1	1373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	211473212	211473212	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr2:211473212C>A	ENST00000233072.5	+	19	2516	c.2320C>A	c.(2320-2322)Ccc>Acc	p.P774T	CPS1_ENST00000451903.2_Missense_Mutation_p.P323T|CPS1_ENST00000430249.2_Missense_Mutation_p.P780T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	774			P -> L (in CPS1D; the enzyme is inactive). {ECO:0000269|PubMed:20578160}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.P780T(1)|p.P774T(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CACCAAGATTCCCCGCTGGGA	0.458																																																2	Substitution - Missense(2)	kidney(2)											134	128	130					2																	211473212		2203	4300	6503	SO:0001583	missense	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2320C>A	2.37:g.211473212C>A	ENSP00000233072:p.Pro774Thr		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194256	0.94960	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98876	-5.2;-5.2;-5.2	6.16	6.16	0.99307	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97994	1.0356	10	0.87932	D	0	-2.0161	20.8598	0.99761	0.0:1.0:0.0:0.0	.	784;774	Q59HF8;P31327	.;CPSM_HUMAN	T	780;782;774;323	ENSP00000402608:P780T;ENSP00000233072:P774T;ENSP00000406136:P323T	ENSP00000233072:P774T	P	+	1	0	CPS1	211181457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCC		0.458	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			A	211473212	C	A	211473212	3	1	428	1	0	0	0	0	1	0	0	0	3825	855	30	4	2416	4	CPS1	2	211473212	Missense_Mutation	SNP	C	TCGA-BP-5178-01A-01D-1429-08	33374256	211473212	31726161	8	23448											
SCG2	7857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	224463615	224463615	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr2:224463615G>A	ENST00000305409.2	-	2	618	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.P129L(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATTTTCTTTTGGTGCAGACTG	0.433																																																1	Substitution - Missense(1)	kidney(1)											165	164	165					2																	224463615		2203	4300	6503	SO:0001583	missense	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.386C>T	2.37:g.224463615G>A	ENSP00000304133:p.Pro129Leu		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	7.668	0.686303	0.14973	.	.	ENSG00000171951	ENST00000305409;ENST00000421386	T;T	0.01854	4.6;4.6	5.5	1.62	0.23740	.	0.512246	0.20377	N	0.093538	T	0.01558	0.0050	N	0.10972	0.075	0.09310	N	0.999995	B	0.06786	0.001	B	0.09377	0.004	T	0.47446	-0.9117	10	0.32370	T	0.25	.	11.335	0.49498	0.2611:0.0:0.7389:0.0	.	129	P13521	SCG2_HUMAN	L	129	ENSP00000304133:P129L;ENSP00000394702:P129L	ENSP00000304133:P129L	P	-	2	0	SCG2	224171859	0.001000	0.12720	0.011000	0.14972	0.899000	0.52679	0.449000	0.21744	0.365000	0.24400	0.585000	0.79938	CCA		0.433	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		A	224463615	G	A	224463615	3	1	428	1	0	0	0	0	1	0	0	0	13897	1348	47	2	1471	2	SCG2	2	224463615	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	12990403	224463615	18735758	9	23449											
STT3B	201595	hgsc.bcm.edu	37	3	31659455	31659456	+	Frame_Shift_Ins	INS	-	-	G	rs368102823		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr3:31659455_31659456insG	ENST00000295770.2	+	8	1356_1357	c.1147_1148insG	c.(1147-1149)aggfs	p.R383fs	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	383					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						ATGGAGTGGCAGGTTTTATTCA	0.307																																																0																																										SO:0001589	frameshift_variant	201595			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1149dupG	3.37:g.31659457_31659457dupG	ENSP00000295770:p.Arg383fs		Q96JZ4|Q96KY7	Frame_Shift_Ins	INS	ENST00000295770.2	37	CCDS2650.1																																																																																				0.307	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		G	31659456	-	G	31659455	7	5	428	1	0	1	1	0	0	0	0	0	15339	179	7	0	1177	0	STT3B	3	31659455	Frame_Shift_Ins	INS	-	TCGA-BP-5178-01A-01D-1429-08		31659455	166362975	10	23450											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47142967	47142967	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr3:47142967A>G	ENST00000409792.3	-	8	5038	c.4996T>C	c.(4996-4998)Tat>Cat	p.Y1666H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1666	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.Y1163H(1)|p.Y1666H(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGGAACTGATAGTCAAACGTT	0.378			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											164	167	166					3																	47142967		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4996T>C	3.37:g.47142967A>G	ENSP00000386759:p.Tyr1666His		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633677	0.87660	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.98958	-5.27	5.94	5.94	0.96194	SET domain (3);	0.000000	0.48767	D	0.000170	D	0.99632	0.9865	H	0.99783	4.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97217	0.9875	10	0.87932	D	0	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	1666;1666	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1666	ENSP00000386759:Y1666H	ENSP00000386759:Y1666H	Y	-	1	0	SETD2	47117971	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.238000	0.95380	2.275000	0.75901	0.528000	0.53228	TAT		0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47142967	A	G	47142967	3	3	428	1	0	0	0	0	1	0	0	0	14137	420	15	3	2754	3	SETD2	3	47142967	Missense_Mutation	SNP	A	TCGA-BP-5178-01A-01D-1429-08	15483512	47142967	150879463	11	23451											
SENP7	57337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	101060582	101060582	+	Silent	SNP	C	C	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr3:101060582C>A	ENST00000394095.2	-	15	2201	c.2148G>T	c.(2146-2148)ctG>ctT	p.L716L	SENP7_ENST00000358203.3_Silent_p.L552L|SENP7_ENST00000394091.1_Silent_p.L552L|SENP7_ENST00000314261.7_Silent_p.L650L|SENP7_ENST00000394094.2_Silent_p.L651L|SENP7_ENST00000348610.3_Silent_p.L683L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	716						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.L650L(1)|p.L716L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTGCTTCTGCAGGAAGGTGT	0.438																																																2	Substitution - coding silent(2)	kidney(2)											109	92	98					3																	101060582		2203	4300	6503	SO:0001819	synonymous_variant	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2148G>T	3.37:g.101060582C>A			A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	CCDS2941.2																																																																																				0.438	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		A	101060582	C	A	101060582	2	1	428	1	0	0	0	0	0	0	0	1	14057	697	25	4		4	SENP7	3	101060582	Silent	SNP	C	TCGA-BP-5178-01A-01D-1429-08	53917615	101060582	96961848	12	23452											
TP63	8626	broad.mit.edu;hgsc.bcm.edu	37	3	189586483	189586483	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr3:189586483G>C	ENST00000264731.3	+	8	1196	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	TP63_ENST00000449992.1_Missense_Mutation_p.K190N|TP63_ENST00000392463.2_Missense_Mutation_p.K275N|TP63_ENST00000354600.5_Missense_Mutation_p.K275N|TP63_ENST00000320472.5_Missense_Mutation_p.K369N|TP63_ENST00000437221.1_Missense_Mutation_p.K275N|TP63_ENST00000418709.2_Missense_Mutation_p.K369N|TP63_ENST00000392460.3_Missense_Mutation_p.K369N|TP63_ENST00000440651.2_Missense_Mutation_p.K369N|TP63_ENST00000392461.3_Missense_Mutation_p.K275N|TP63_ENST00000456148.1_Missense_Mutation_p.K275N|TP63_ENST00000382063.4_Missense_Mutation_p.K284N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	369	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.K369N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACAGTACAAAGAACGGTGATG	0.517										HNSCC(45;0.13)																																						1	Substitution - Missense(1)	kidney(1)											133	125	128					3																	189586483		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1107G>C	3.37:g.189586483G>C	ENSP00000264731:p.Lys369Asn		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249808	0.80024	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99737	-6.3;-6.56;-6.56;-6.56;-6.42;-6.58;-6.27;-6.5;-6.52;-6.52;-6.59;-6.37	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	L	0.57536	1.79	0.80722	D	1	D;D;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.588;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;B;D;D;D;D;D;D	0.97110	0.995;1.0;1.0;0.318;1.0;1.0;0.999;0.995;0.999;1.0	D	0.98567	1.0644	9	.	.	.	-14.4714	14.6053	0.68475	0.0696:0.0:0.9304:0.0	.	190;369;369;275;275;275;275;369;369;369	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	N	369;369;369;369;369;284;275;275;275;275;190;275	ENSP00000264731:K369N;ENSP00000407144:K369N;ENSP00000317510:K369N;ENSP00000376253:K369N;ENSP00000394337:K369N;ENSP00000371495:K284N;ENSP00000346614:K275N;ENSP00000392488:K275N;ENSP00000376256:K275N;ENSP00000376254:K275N;ENSP00000387839:K190N;ENSP00000389485:K275N	.	K	+	3	2	TP63	191069177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.256000	0.72473	1.552000	0.49463	0.655000	0.94253	AAG		0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		C	189586483	G	C	189586483	3	2	428	1	0	0	0	0	1	0	0	0	16397	933	33	4	1183	4	TP63	3	189586483	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	88525901	189586483	8435947	13	23453											
SEMA6A	57556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	115803361	115803361	+	Silent	SNP	C	C	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr5:115803361C>G	ENST00000343348.6	-	18	2599	c.1812G>C	c.(1810-1812)ctG>ctC	p.L604L	SEMA6A_ENST00000282394.6_Intron|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.L621L|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.L31L|SEMA6A_ENST00000510263.1_Silent_p.L604L|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	604					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.L604L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GCTTCCAGTCCAGCATTCCTC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											111	108	109					5																	115803361		2011	4174	6185	SO:0001819	synonymous_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1812G>C	5.37:g.115803361C>G			Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1																																																																																				0.512	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		G	115803361	C	G	115803361	2	3	428	1	0	0	0	0	0	0	0	1	14045	581	21	4		4	SEMA6A	5	115803361	Silent	SNP	C	TCGA-BP-5178-01A-01D-1429-08		115803361	65111899	14	23454											
DNAJC18	202052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138749940	138749940	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr5:138749940G>A	ENST00000302060.5	-	8	1054	c.974C>T	c.(973-975)gCa>gTa	p.A325V		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	325						integral component of membrane (GO:0016021)		p.A325V(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTATAATCCTGCCAAATTTGT	0.408																																																1	Substitution - Missense(1)	kidney(1)											192	170	177					5																	138749940		2203	4300	6503	SO:0001583	missense	202052			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"Heat shock proteins / DNAJ (HSP40)"	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.974C>T	5.37:g.138749940G>A	ENSP00000302843:p.Ala325Val			Missense_Mutation	SNP	ENST00000302060.5	37	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359425	0.82353	.	.	ENSG00000170464	ENST00000302060	T	0.59224	0.28	5.8	5.8	0.92144	Domain of unknown function DUF1977, DnaJ-like (1);	0.053627	0.85682	D	0.000000	T	0.78278	0.4258	M	0.85630	2.765	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	T	0.80984	-0.1138	10	0.72032	D	0.01	1.4034	16.7737	0.85545	0.0:0.0:1.0:0.0	.	325	Q9H819	DJC18_HUMAN	V	325	ENSP00000302843:A325V	ENSP00000302843:A325V	A	-	2	0	DNAJC18	138777839	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.439000	0.73430	2.748000	0.94277	0.655000	0.94253	GCA		0.408	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686		A	138749940	G	A	138749940	3	1	428	1	0	0	0	0	1	0	0	0	4639	1319	46	2	106	2	DNAJC18	5	138749940	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	22946579	138749940	42165320	15	23455											
PCDHGA1	56114	broad.mit.edu;hgsc.bcm.edu	37	5	140712520	140712520	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr5:140712520G>T	ENST00000517417.1	+	1	2269	c.2269G>T	c.(2269-2271)Gtc>Ttc	p.V757F	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V757F	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	757					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V757F(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCCACGAGGTCTCCCTCAC	0.597																																																2	Substitution - Missense(2)	kidney(2)											84	90	88					5																	140712520		2203	4296	6499	SO:0001583	missense	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2269G>T	5.37:g.140712520G>T	ENSP00000431083:p.Val757Phe		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	14.49	2.552118	0.45487	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.57273	0.57;0.41	3.89	2.04	0.26737	.	0.151802	0.30118	N	0.010380	T	0.57607	0.2065	M	0.83118	2.625	0.22858	N	0.998645	B;B	0.27765	0.188;0.046	B;B	0.36989	0.238;0.078	T	0.56655	-0.7943	10	0.59425	D	0.04	.	8.9695	0.35897	0.1784:0.0:0.8216:0.0	.	757;757	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	F	757	ENSP00000431083:V757F;ENSP00000367345:V757F	ENSP00000367345:V757F	V	+	1	0	PCDHGA1	140692704	0.179000	0.23135	0.984000	0.44739	0.918000	0.54935	1.555000	0.36277	0.401000	0.25424	0.585000	0.79938	GTC		0.597	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		T	140712520	G	T	140712520	3	4	428	1	0	0	0	0	1	0	0	0	11552	1261	44	4	2271	4	PCDHGA1	5	140712520	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	1962580	140712520	40202740	16	23456											
SLC35B3	51000	hgsc.bcm.edu;ucsc.edu	37	6	8417152	8417152	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr6:8417152A>T	ENST00000379660.4	-	9	1399	c.950T>A	c.(949-951)tTg>tAg	p.L317*		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	317					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.L317*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					AATTTTAATCAAAGCCAGAAC	0.348																																					Melanoma(83;700 1353 9357 11478 30548)											1	Substitution - Nonsense(1)	kidney(1)											72	80	77					6																	8417152		2203	4299	6502	SO:0001587	stop_gained	51000			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"Solute carriers"	21601	protein-coding gene	gene with protein product	"3' phosphoadenosine 5' phosphosulfate transporter 2"	610845	"chromosome 6 open reading frame 196", "solute carrier family 35, member B3"	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.950T>A	6.37:g.8417152A>T	ENSP00000368981:p.Leu317*		A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Nonsense_Mutation	SNP	ENST00000379660.4	37	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	A	41	9.053889	0.99050	.	.	ENSG00000124786	ENST00000379660	.	.	.	5.36	5.36	0.76844	.	0.157935	0.40818	N	0.001014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0454	15.6434	0.77025	1.0:0.0:0.0:0.0	.	.	.	.	X	317	.	.	L	-	2	0	SLC35B3	8362151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.157000	0.94714	2.153000	0.67306	0.528000	0.53228	TTG		0.348	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948		T	8417152	A	T	8417152	4	4	428	1	0	0	0	0	0	1	0	0	14583	131	5	5	267	5	SLC35B3	6	8417152	Nonsense_Mutation	SNP	A	TCGA-BP-5178-01A-01D-1429-08		8417152	162697915	17	23457											
C2	717	broad.mit.edu;hgsc.bcm.edu	37	6	31912529	31912529	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr6:31912529C>T	ENST00000299367.5	+	16	2204	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	CFB_ENST00000425368.2_5'Flank|C2_ENST00000452323.2_Missense_Mutation_p.S429F|CFB_ENST00000456570.1_Missense_Mutation_p.S490F|C2_ENST00000468407.1_3'UTR|C2_ENST00000442278.2_Missense_Mutation_p.S511F|C2_ENST00000469372.1_Missense_Mutation_p.S397F|CFB_ENST00000477310.1_Missense_Mutation_p.S414F|CFB_ENST00000556679.1_Missense_Mutation_p.S490F	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	643	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S643F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GAGGTTGTCTCCCAAGAAAAA	0.557																																																1	Substitution - Missense(1)	kidney(1)											100	97	98					6																	31912529		1511	2709	4220	SO:0001583	missense	717				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1928C>T	6.37:g.31912529C>T	ENSP00000299367:p.Ser643Phe		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.254014|3.254014	0.59212|0.59212	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000383177|ENST00000469372;ENST00000497706;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310	.|T;T;T;T;T;T;T;T	.|0.31510	.|1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.39|5.39	-0.559|-0.559	0.11792|0.11792	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|1.126680	.|0.06875	.|N	.|0.801497	T|T	0.28797|0.28797	0.0714|0.0714	M|M	0.76328|0.76328	2.33|2.33	0.09310|0.09310	N|N	1|1	.|B;D;D;P;P;P;P;P;D	.|0.61080	.|0.005;0.975;0.989;0.956;0.914;0.944;0.914;0.465;0.989	.|B;P;P;P;P;P;P;B;P	.|0.58172	.|0.007;0.703;0.834;0.61;0.616;0.481;0.616;0.344;0.781	T|T	0.09885|0.09885	-1.0654|-1.0654	5|10	.|0.54805	.|T	.|0.06	-2.1251|-2.1251	5.0187|5.0187	0.14350|0.14350	0.0:0.4428:0.1494:0.4078|0.0:0.4428:0.1494:0.4078	.|.	.|490;614;429;397;511;328;511;643;430	.|B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0	.|.;.;.;.;.;.;.;CO2_HUMAN;.	S|F	417|397;430;429;643;328;511;490;490;414	.|ENSP00000418923:S397F;ENSP00000417482:S430F;ENSP00000392322:S429F;ENSP00000299367:S643F;ENSP00000395683:S511F;ENSP00000451848:S490F;ENSP00000410815:S490F;ENSP00000418996:S414F	.|ENSP00000299367:S643F	P|S	+|+	1|2	0|0	C2|CFB;C2;XXbac-BPG116M5.17	32020508|32020508	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.175000|0.175000	0.22909|0.22909	0.061000|0.061000	0.14366|0.14366	0.015000|0.015000	0.14971|0.14971	0.563000|0.563000	0.77884|0.77884	CCC|TCC		0.557	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			T	31912529	C	T	31912529	3	4	428	1	0	0	0	0	1	0	0	0	2076	855	30	2	2067	2	C2	6	31912529	Missense_Mutation	SNP	C	TCGA-BP-5178-01A-01D-1429-08	23495377	31912529	139202538	18	23458											
GRIK2	2898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	102503298	102503298	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr6:102503298A>G	ENST00000421544.1	+	15	2895	c.2405A>G	c.(2404-2406)aAt>aGt	p.N802S	GRIK2_ENST00000413795.1_Missense_Mutation_p.N802S|GRIK2_ENST00000369137.3_Missense_Mutation_p.N726S|GRIK2_ENST00000369138.1_Missense_Mutation_p.N802S|GRIK2_ENST00000369134.4_Missense_Mutation_p.N753S|GRIK2_ENST00000318991.6_Missense_Mutation_p.N802S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	802					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N802S(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGGAGGGGCAATGGTTGCCCA	0.483																																																2	Substitution - Missense(2)	kidney(2)											106	108	108					6																	102503298		2203	4300	6503	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2405A>G	6.37:g.102503298A>G	ENSP00000397026:p.Asn802Ser		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242983	0.39697	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83	5.68	5.68	0.88126	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.01661	0.0053	N	0.01352	-0.895	0.51482	D	0.999926	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.49204	-0.8964	10	0.23891	T	0.37	.	15.9826	0.80125	1.0:0.0:0.0:0.0	.	802;802;802	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	S	802;802;802;726;802;753;577	ENSP00000397026:N802S;ENSP00000405596:N802S;ENSP00000358134:N802S;ENSP00000358133:N726S;ENSP00000313276:N802S;ENSP00000358130:N753S	ENSP00000313276:N802S	N	+	2	0	GRIK2	102609991	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.176000	0.68965	0.477000	0.44152	AAT		0.483	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			G	102503298	A	G	102503298	3	3	428	1	0	0	0	0	1	0	0	0	6776	101	4	3	2463	3	GRIK2	6	102503298	Missense_Mutation	SNP	A	TCGA-BP-5178-01A-01D-1429-08	70590769	102503298	68611769	19	23459											
ACHE	43	hgsc.bcm.edu;ucsc.edu	37	7	100490365	100490367	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	GTT	GTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr7:100490365_100490367delGTT	ENST00000412389.1	-	2	1296_1298	c.1141_1143delAAC	c.(1141-1143)aacdel	p.N381del	ACHE_ENST00000302913.4_In_Frame_Del_p.N381del|ACHE_ENST00000411582.1_In_Frame_Del_p.N381del|ACHE_ENST00000419336.2_Intron|ACHE_ENST00000241069.5_In_Frame_Del_p.N381del|ACHE_ENST00000428317.1_In_Frame_Del_p.N381del			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	381					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TGAGAGACTCGTTGTCTTTGCTG	0.631																																																0																																										SO:0001651	inframe_deletion	43				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1141_1143delAAC	7.37:g.100490365_100490367delGTT	ENSP00000394976:p.Asn381del		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	In_Frame_Del	DEL	ENST00000412389.1	37	CCDS5709.1																																																																																				0.631	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		-	100490367	GTT	-	100490365	7	5	428	1	0	1	0	1	0	0	0	0	141	1136	40	0	848	0	ACHE	7	100490365	In_Frame_Del	DEL	GTT	TCGA-BP-5178-01A-01D-1429-08		100490365	58648298	20	23460											
SMO	6608	broad.mit.edu	37	7	128852025	128852025	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr7:128852025T>G	ENST00000249373.3	+	12	2377	c.2097T>G	c.(2095-2097)agT>agG	p.S699R	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	699					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S699R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CTGCCCCCAGTACCATTCCTC	0.677			Mis		skin basal cell																																		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	1	Substitution - Missense(1)	kidney(1)											10	10	10					7																	128852025		2157	4209	6366	SO:0001583	missense	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2097T>G	7.37:g.128852025T>G	ENSP00000249373:p.Ser699Arg		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390020	0.25118	.	.	ENSG00000128602	ENST00000249373	D	0.81659	-1.52	5.41	-3.47	0.04753	.	0.213470	0.56097	D	0.000035	D	0.82884	0.5134	L	0.47716	1.5	0.29588	N	0.848661	D	0.61697	0.99	D	0.66497	0.944	T	0.81239	-0.1023	10	0.72032	D	0.01	.	14.6758	0.68978	0.0:0.6858:0.0:0.3142	.	699	Q99835	SMO_HUMAN	R	699	ENSP00000249373:S699R	ENSP00000249373:S699R	S	+	3	2	SMO	128639261	0.000000	0.05858	0.165000	0.22776	0.056000	0.15407	-0.850000	0.04317	-0.981000	0.03520	-0.353000	0.07706	AGT		0.677	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		G	128852025	T	G	128852025	3	3	428	1	0	0	0	0	1	0	0	0	14806	1635	57	5	2143	5	SMO	7	128852025	Missense_Mutation	SNP	T	TCGA-BP-5178-01A-01D-1429-08	28361660	128852025	30286638	21	23461											
RBM33	155435	broad.mit.edu	37	7	155465597	155465597	+	Silent	SNP	A	A	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr7:155465597A>T	ENST00000401878.3	+	3	357	c.159A>T	c.(157-159)ctA>ctT	p.L53L	RBM33_ENST00000287912.3_Silent_p.L53L|RBM33_ENST00000392759.3_Silent_p.L53L	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	53							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L53L(3)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAGATTTGCTATCTGGCAAAA	0.323																																																3	Substitution - coding silent(3)	kidney(3)											47	45	46					7																	155465597		1773	3970	5743	SO:0001819	synonymous_variant	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.159A>T	7.37:g.155465597A>T			A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	CCDS5941.2																																																																																				0.323	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		T	155465597	A	T	155465597	2	4	428	1	0	0	0	0	0	0	0	1	13136	436	16	5		5	RBM33	7	155465597	Silent	SNP	A	TCGA-BP-5178-01A-01D-1429-08	26613572	155465597	3673066	22	23462											
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106813670	106813670	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr8:106813670C>A	ENST00000407775.2	+	8	1610	c.1360C>A	c.(1360-1362)Cca>Aca	p.P454T	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P185T|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P322T|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P322T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	454					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P454T(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAACCAGAGACCAGAGATACA	0.458																																																1	Substitution - Missense(1)	kidney(1)											64	70	68					8																	106813670		1885	4111	5996	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1360C>A	8.37:g.106813670C>A	ENSP00000384179:p.Pro454Thr		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.928067	0.34002	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.18960	2.18;2.66;2.66;3.87	5.97	5.97	0.96955	.	0.163674	0.53938	D	0.000044	T	0.21387	0.0515	L	0.36672	1.1	0.54753	D	0.999987	B	0.28128	0.201	B	0.24541	0.054	T	0.01621	-1.1310	10	0.39692	T	0.17	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	454	Q8WW38	FOG2_HUMAN	T	454;322;322;185	ENSP00000384179:P454T;ENSP00000430757:P322T;ENSP00000428720:P322T;ENSP00000367733:P185T	ENSP00000367733:P185T	P	+	1	0	ZFPM2	106882846	1.000000	0.71417	0.996000	0.52242	0.717000	0.41224	6.146000	0.71777	2.836000	0.97738	0.655000	0.94253	CCA		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			A	106813670	C	A	106813670	3	1	428	1	0	0	0	0	1	0	0	0	17663	507	18	4	1390	4	ZFPM2	8	106813670	Missense_Mutation	SNP	C	TCGA-BP-5178-01A-01D-1429-08		106813670	39550352	23	23463											
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110476839	110476839	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr8:110476839A>T	ENST00000378402.5	+	49	7882	c.7778A>T	c.(7777-7779)gAt>gTt	p.D2593V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2593					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D2595V(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACCACCCTGATGGGCCATCC	0.453										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	kidney(1)											85	87	86					8																	110476839		1963	4167	6130	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7778A>T	8.37:g.110476839A>T	ENSP00000367655:p.Asp2593Val		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.576533	0.45902	.	.	ENSG00000205038	ENST00000378402	D	0.81659	-1.52	5.55	5.55	0.83447	Pectin lyase fold/virulence factor (1);	0.119923	0.53938	D	0.000047	T	0.79839	0.4515	L	0.58302	1.8	0.80722	D	1	P	0.40875	0.731	B	0.42188	0.379	T	0.81867	-0.0735	10	0.62326	D	0.03	.	13.6434	0.62265	1.0:0.0:0.0:0.0	.	2593	Q86WI1	PKHL1_HUMAN	V	2593	ENSP00000367655:D2593V	ENSP00000367655:D2593V	D	+	2	0	PKHD1L1	110546015	1.000000	0.71417	0.991000	0.47740	0.083000	0.17756	7.693000	0.84214	2.110000	0.64415	0.533000	0.62120	GAT		0.453	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110476839	A	T	110476839	3	4	428	1	0	0	0	0	1	0	0	0	11974	333	12	5	7972	5	PKHD1L1	8	110476839	Missense_Mutation	SNP	A	TCGA-BP-5178-01A-01D-1429-08	3663169	110476839	35887183	24	23464											
ZRANB1	54764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	126670374	126670374	+	Silent	SNP	A	A	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr10:126670374A>G	ENST00000359653.4	+	6	1895	c.1524A>G	c.(1522-1524)gcA>gcG	p.A508A	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	508	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A508A(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAGACTGGGCATTTATACTCT	0.398																																																1	Substitution - coding silent(1)	kidney(1)											132	134	133					10																	126670374		2203	4300	6503	SO:0001819	synonymous_variant	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1524A>G	10.37:g.126670374A>G			B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Silent	SNP	ENST00000359653.4	37	CCDS7642.1																																																																																				0.398	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		G	126670374	A	G	126670374	2	3	428	1	0	0	0	0	0	0	0	1	18227	204	8	3		3	ZRANB1	10	126670374	Silent	SNP	A	TCGA-BP-5178-01A-01D-1429-08		126670374	8864373	25	23465											
UEVLD	55293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18600293	18600293	+	Missense_Mutation	SNP	G	G	T	rs571963007		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr11:18600293G>T	ENST00000541984.1	-	2	167	c.105C>A	c.(103-105)ttC>ttA	p.F35L	UEVLD_ENST00000540666.1_Intron|UEVLD_ENST00000320750.6_Missense_Mutation_p.F35L|UEVLD_ENST00000543987.1_Missense_Mutation_p.F35L|UEVLD_ENST00000396197.3_Missense_Mutation_p.F35L|UEVLD_ENST00000379387.4_Missense_Mutation_p.F35L|UEVLD_ENST00000300038.7_Missense_Mutation_p.F35L|UEVLD_ENST00000535484.1_5'UTR	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains									p.F35L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGAATATTTGAAATGTGGGA	0.333																																																2	Substitution - Missense(2)	kidney(2)											114	109	111					11																	18600293		2199	4293	6492	SO:0001583	missense	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.105C>A	11.37:g.18600293G>T	ENSP00000437538:p.Phe35Leu			Missense_Mutation	SNP	ENST00000541984.1	37	CCDS58125.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526848	0.44969	.	.	ENSG00000151116	ENST00000543987;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000541984;ENST00000300038	T;T;D;T;T	0.81579	-1.12;-0.27;-1.51;-0.65;-0.4	5.83	1.72	0.24424	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.179830	0.64402	D	0.000012	T	0.58538	0.2129	N	0.05259	-0.085	0.41915	D	0.990485	B;B;P;B;B	0.46512	0.021;0.025;0.879;0.012;0.015	B;B;P;B;B	0.45639	0.012;0.011;0.488;0.004;0.011	T	0.60692	-0.7213	10	0.02654	T	1	-15.395	8.8215	0.35030	0.3057:0.0:0.6943:0.0	.	35;35;35;35;35	Q8IX04-5;B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;.;UEVLD_HUMAN	L	35	ENSP00000442974:F35L;ENSP00000379500:F35L;ENSP00000323353:F35L;ENSP00000368697:F35L;ENSP00000437538:F35L	ENSP00000300038:F35L	F	-	3	2	UEVLD	18556869	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	1.265000	0.33027	0.063000	0.16370	-0.367000	0.07326	TTC		0.333	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1	NM_018314		T	18600293	G	T	18600293	3	4	428	1	0	0	0	0	1	0	0	0	16938	1281	45	4	1354	4	UEVLD	11	18600293	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08		18600293	116406223	26	23466											
MS4A3	932	broad.mit.edu;hgsc.bcm.edu	37	11	59834429	59834429	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr11:59834429G>T	ENST00000278865.3	+	5	430	c.357G>T	c.(355-357)caG>caT	p.Q119H	MS4A3_ENST00000395032.2_5'UTR|MS4A3_ENST00000358152.2_Missense_Mutation_p.Q73H|MS4A3_ENST00000534744.1_Missense_Mutation_p.Q73H	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	119						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.Q119H(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TTTAGATACAGAACAGTTTTG	0.323																																																1	Substitution - Missense(1)	kidney(1)											58	54	55					11																	59834429		2201	4295	6496	SO:0001583	missense	932			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.357G>T	11.37:g.59834429G>T	ENSP00000278865:p.Gln119His		A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	6.915	0.538380	0.13250	.	.	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.02472	4.28;4.28;4.28	4.21	-6.75	0.01738	.	2.345970	0.02378	N	0.078586	T	0.06690	0.0171	L	0.54323	1.7	0.09310	N	1	P;D	0.54047	0.956;0.964	P;P	0.55785	0.678;0.784	T	0.30297	-0.9983	10	0.20046	T	0.44	-3.4145	8.7622	0.34680	0.2783:0.1494:0.5723:0.0	.	73;119	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	H	73;119;73	ENSP00000350872:Q73H;ENSP00000278865:Q119H;ENSP00000434117:Q73H	ENSP00000278865:Q119H	Q	+	3	2	MS4A3	59591005	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.583000	0.05807	-1.779000	0.01280	-0.511000	0.04467	CAG		0.323	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			T	59834429	G	T	59834429	3	4	428	1	0	0	0	0	1	0	0	0	9863	933	33	4	371	4	MS4A3	11	59834429	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	41234136	59834429	75172087	27	23467											
EHBP1L1	254102	broad.mit.edu	37	11	65346872	65346872	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr11:65346872C>T	ENST00000309295.4	+	3	488	c.223C>T	c.(223-225)Cct>Tct	p.P75S		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	75						membrane (GO:0016020)		p.P75S(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTGGATGGTACCTGAGAATGT	0.557																																																1	Substitution - Missense(1)	kidney(1)											37	40	39					11																	65346872		2037	4179	6216	SO:0001583	missense	254102			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.223C>T	11.37:g.65346872C>T	ENSP00000312671:p.Pro75Ser		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968257	0.92855	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;D	0.85484	-0.82;-1.99	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000003	D	0.91862	0.7424	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92695	0.6170	10	0.87932	D	0	.	14.1742	0.65529	0.0:1.0:0.0:0.0	.	75	Q8N3D4	EH1L1_HUMAN	S	75	ENSP00000312671:P75S;ENSP00000431996:P75S	ENSP00000312671:P75S	P	+	1	0	EHBP1L1	65103448	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	6.717000	0.74707	2.435000	0.82474	0.491000	0.48974	CCT		0.557	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		T	65346872	C	T	65346872	3	4	428	1	0	0	0	0	1	0	0	0	4978	507	18	2	233	2	EHBP1L1	11	65346872	Missense_Mutation	SNP	C	TCGA-BP-5178-01A-01D-1429-08	5512443	65346872	69659644	28	23468											
RSF1	51773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77412660	77412660	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr11:77412660T>G	ENST00000308488.6	-	6	1916	c.1614A>C	c.(1612-1614)gaA>gaC	p.E538D	RSF1_ENST00000360355.2_Missense_Mutation_p.E507D|RSF1_ENST00000480887.1_Missense_Mutation_p.E286D			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	538					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.E538D(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CAAGAGAAGTTTCCATTTCTG	0.413																																																1	Substitution - Missense(1)	kidney(1)											166	170	168					11																	77412660		2200	4292	6492	SO:0001583	missense	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1614A>C	11.37:g.77412660T>G	ENSP00000311513:p.Glu538Asp		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	8.563	0.878187	0.17395	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.87412	-2.15;-2.17;-2.15;-2.25;1.31	5.23	2.8	0.32819	.	0.214314	0.33180	N	0.005184	T	0.75148	0.3810	N	0.14661	0.345	0.36178	D	0.849243	B	0.06786	0.001	B	0.08055	0.003	T	0.68074	-0.5505	10	0.30854	T	0.27	-10.0621	11.6163	0.51092	0.0:0.0:0.2936:0.7064	.	538	Q96T23	RSF1_HUMAN	D	538;286;507;339;537	ENSP00000311513:E538D;ENSP00000434509:E286D;ENSP00000353511:E507D;ENSP00000432022:E339D;ENSP00000436408:E537D	ENSP00000311513:E538D	E	-	3	2	RSF1	77090308	0.155000	0.22806	0.917000	0.36280	0.449000	0.32228	0.325000	0.19628	0.402000	0.25451	0.533000	0.62120	GAA		0.413	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		G	77412660	T	G	77412660	3	3	428	1	0	0	0	0	1	0	0	0	13705	1838	64	5	2755	5	RSF1	11	77412660	Missense_Mutation	SNP	T	TCGA-BP-5178-01A-01D-1429-08	12065788	77412660	57593856	29	23469											
FLI1	2313	broad.mit.edu;ucsc.edu	37	11	128680490	128680490	+	Silent	SNP	C	C	T	rs200962985		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr11:128680490C>T	ENST00000527786.2	+	9	1455	c.966C>T	c.(964-966)ggC>ggT	p.G322G	FLI1_ENST00000344954.6_Silent_p.G289G|FLI1_ENST00000534087.2_Silent_p.G289G|FLI1_ENST00000525560.1_Silent_p.G129G|FLI1_ENST00000281428.8_Silent_p.G256G	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	322					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G322G(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGCGCTGGGGCGAGCGGAAAA	0.552			T	EWSR1	Ewing sarcoma																																		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	1	Substitution - coding silent(1)	kidney(1)						C	,	0,4390		0,0,2195	31	36	34		867,966	0	1	11		34	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	FLI1	NM_001167681.2,NM_002017.3	,	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	,	289/420,322/453	128680490	1,12983	2195	4297	6492	SO:0001819	synonymous_variant	2313			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.966C>T	11.37:g.128680490C>T			B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	CCDS44768.1																																																																																				0.552	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		T	128680490	C	T	128680490	2	4	428	1	0	0	0	0	0	0	0	1	5926	755	27	1		1	FLI1	11	128680490	Silent	SNP	C	TCGA-BP-5178-01A-01D-1429-08	51267830	128680490	6326026	30	23470											
ARNTL2	56938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	27529304	27529304	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr12:27529304delA	ENST00000266503.5	+	4	328	c.310delA	c.(310-312)aaafs	p.K104fs	ARNTL2_ENST00000546179.1_Intron|ARNTL2_ENST00000544915.1_Frame_Shift_Del_p.K70fs|ARNTL2_ENST00000542388.1_Intron|ARNTL2_ENST00000261178.5_Intron|ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000395901.2_Intron|ARNTL2_ENST00000311001.5_Intron			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	104	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACACCAAGTTAAAATGAAGGC	0.398																																																0													130	117	122					12																	27529304		2203	4300	6503	SO:0001589	frameshift_variant	56938			AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.310delA	12.37:g.27529304delA	ENSP00000266503:p.Lys104fs		B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Frame_Shift_Del	DEL	ENST00000266503.5	37	CCDS8712.1																																																																																				0.398	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		-	27529304	A	-	27529304	7	5	428	1	0	1	0	1	0	0	0	0	968	363	13	0	324	0	ARNTL2	12	27529304	Frame_Shift_Del	DEL	A	TCGA-BP-5178-01A-01D-1429-08		27529304	106322591	31	23471											
ADAMTS20	80070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	43777521	43777521	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr12:43777521G>A	ENST00000389420.3	-	31	4636	c.4637C>T	c.(4636-4638)tCa>tTa	p.S1546L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1546	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1546L(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTCTCACATGATGTTGAACA	0.343																																																1	Substitution - Missense(1)	kidney(1)											138	128	131					12																	43777521		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4637C>T	12.37:g.43777521G>A	ENSP00000374071:p.Ser1546Leu		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	31	5.061367	0.93846	.	.	ENSG00000173157	ENST00000389420	T	0.59638	0.25	4.7	4.7	0.59300	.	0.000000	0.42548	D	0.000693	T	0.65228	0.2671	L	0.54323	1.7	0.80722	D	1	D	0.56035	0.974	P	0.55615	0.78	T	0.67803	-0.5576	10	0.62326	D	0.03	.	13.4994	0.61445	0.0:0.0:0.8434:0.1566	.	1546	P59510	ATS20_HUMAN	L	1546	ENSP00000374071:S1546L	ENSP00000374071:S1546L	S	-	2	0	ADAMTS20	42063788	0.981000	0.34729	0.030000	0.17652	0.910000	0.53928	3.774000	0.55341	2.539000	0.85634	0.655000	0.94253	TCA		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43777521	G	A	43777521	3	1	428	1	0	0	0	0	1	0	0	0	266	1294	45	2	1130	2	ADAMTS20	12	43777521	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	16248217	43777521	90074374	32	23472											
MUCL1	118430	broad.mit.edu	37	12	55250594	55250594	+	Silent	SNP	T	T	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr12:55250594T>A	ENST00000308796.6	+	3	187	c.141T>A	c.(139-141)acT>acA	p.T47T	MUCL1_ENST00000546809.1_Silent_p.T42T|MUCL1_ENST00000547990.1_3'UTR	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	47	3 X 8 AA tandem repeat of T-T-A-A-[APS]- T-T-A.|Thr-rich.		Missing. {ECO:0000269|PubMed:15880534}.		cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|membrane (GO:0016020)		p.T47T(1)		breast(1)|kidney(1)|lung(1)	3						ctgaaaccactgctgctgcaa	0.502																																																1	Substitution - coding silent(1)	kidney(1)											129	101	111					12																	55250594		2203	4300	6503	SO:0001819	synonymous_variant	118430			AF414087	CCDS8885.1	12q13.2	2007-07-02							30588	protein-coding gene	gene with protein product	"small breast epithelial mucin"	610857				12019145	Standard	NM_058173		Approved	SBEM	uc001sgk.3	Q96DR8		ENST00000308796.6:c.141T>A	12.37:g.55250594T>A			Q0VG95|Q32ZB5	Silent	SNP	ENST00000308796.6	37	CCDS8885.1																																																																																				0.502	MUCL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406062.1	NM_058173		A	55250594	T	A	55250594	2	1	428	1	0	0	0	0	0	0	0	1	9984	1567	55	5		5	MUCL1	12	55250594	Silent	SNP	T	TCGA-BP-5178-01A-01D-1429-08	11473073	55250594	78601301	33	23473											
ERCC5	2073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	103520522	103520522	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr13:103520522G>A	ENST00000355739.4	+	12	4016	c.2593G>A	c.(2593-2595)Gga>Aga	p.G865R	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R1290K|ERCC5_ENST00000375954.1_Missense_Mutation_p.G98R	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	865	I-domain.			EGIPTVGCV -> GNTNCGLC (in Ref. 2; BAA03812). {ECO:0000305}.	DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.G865R(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTATACCGAAGGAATACCAAC	0.358			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	1	Substitution - Missense(1)	kidney(1)											84	91	89					13																	103520522		2203	4300	6503	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2593G>A	13.37:g.103520522G>A	ENSP00000347978:p.Gly865Arg		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006954	0.93287	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.73789	-0.78;-0.78	5.02	5.02	0.67125	-3&apos (1);Helix-hairpin-helix motif, class 2 (1); exonuclease, C-terminal domain (1);5&apos (1);	0.116204	0.64402	D	0.000012	D	0.88142	0.6357	M	0.92268	3.29	0.80722	D	1	D;D	0.71674	0.998;0.977	P;P	0.58970	0.849;0.633	D	0.91422	0.5159	10	0.87932	D	0	-13.2318	18.34	0.90302	0.0:0.0:1.0:0.0	.	865;1290	P28715;Q59FZ7	ERCC5_HUMAN;.	R	1290;865;697;98	ENSP00000347978:G865R;ENSP00000365121:G98R	ENSP00000347978:G865R	G	+	1	0	ERCC5	102318523	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.854000	0.86942	2.353000	0.79882	0.491000	0.48974	GGA		0.358	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			A	103520522	G	A	103520522	3	1	428	1	0	0	0	0	1	0	0	0	5218	1001	35	2	2639	2	ERCC5	13	103520522	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08		103520522	11649356	34	23474											
TEP1	7011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	20847178	20847178	+	Silent	SNP	G	G	A	rs138032035		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr14:20847178G>A	ENST00000262715.5	-	36	5254	c.5214C>T	c.(5212-5214)gaC>gaT	p.D1738D	TEP1_ENST00000556935.1_Silent_p.D1630D|TEP1_ENST00000545983.1_Silent_p.D76D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1738					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.D1738D(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCAGGAGCCCGTCGAAGGCAG	0.547																																																1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	86	86	86		5214	-7.8	0.7	14	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	TEP1	NM_007110.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1738/2628	20847178	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5214C>T	14.37:g.20847178G>A			A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																				0.547	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20847178	G	A	20847178	2	1	428	1	0	0	0	0	0	0	0	1	15764	1136	40	1		1	TEP1	14	20847178	Silent	SNP	G	TCGA-BP-5178-01A-01D-1429-08		20847178	86502362	35	23475											
C14orf101	54916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	57070637	57070637	+	Missense_Mutation	SNP	A	A	G	rs557113012		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr14:57070637A>G	ENST00000261556.6	+	4	571	c.449A>G	c.(448-450)aAt>aGt	p.N150S	TMEM260_ENST00000536419.1_Intron|TMEM260_ENST00000538838.1_Missense_Mutation_p.N150S	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	150						integral component of membrane (GO:0016021)		p.N150S(1)									AGCTTAAACAATCTCTTTGTG	0.443																																																1	Substitution - Missense(1)	kidney(1)											139	142	141					14																	57070637		2203	4300	6503	SO:0001583	missense	54916			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.449A>G	14.37:g.57070637A>G	ENSP00000261556:p.Asn150Ser		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	A	27.2	4.806847	0.90623	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.39997	1.65;1.05	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	L	0.37507	1.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.41787	-0.9489	10	0.12430	T	0.62	-20.4052	16.1506	0.81618	1.0:0.0:0.0:0.0	.	150	Q9NX78	CN101_HUMAN	S	150	ENSP00000261556:N150S;ENSP00000441934:N150S	ENSP00000261556:N150S	N	+	2	0	C14orf101	56140390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.903000	0.92573	2.206000	0.71126	0.528000	0.53228	AAT		0.443	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		G	57070637	A	G	57070637	3	3	428	1	0	0	0	0	1	0	0	0	1736	101	4	3	463	3	C14orf101	14	57070637	Missense_Mutation	SNP	A	TCGA-BP-5178-01A-01D-1429-08	36223459	57070637	50278903	36	23476											
C15orf60	283677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	73843391	73843391	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr15:73843391C>T	ENST00000331090.6	+	4	474	c.446C>T	c.(445-447)cCt>cTt	p.P149L	C15orf60_ENST00000560581.1_Missense_Mutation_p.P121L	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		149					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)			p.P149L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTGCAGGTGCCTGATGGAAAC	0.537																																																1	Substitution - Missense(1)	kidney(1)											60	63	62					15																	73843391		1973	4152	6125	SO:0001583	missense	283677																														ENST00000331090.6:c.446C>T	15.37:g.73843391C>T	ENSP00000328423:p.Pro149Leu			Missense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	C	7.774	0.708123	0.15239	.	.	ENSG00000183324	ENST00000331090	T	0.44083	0.93	5.47	2.46	0.29980	.	0.736082	0.12880	N	0.431490	T	0.44371	0.1290	L	0.56769	1.78	0.09310	N	1	P	0.50819	0.939	P	0.48425	0.577	T	0.22103	-1.0226	10	0.40728	T	0.16	-26.1938	8.3226	0.32138	0.0:0.6225:0.2967:0.0809	.	149	Q7Z4M0	CO060_HUMAN	L	149	ENSP00000328423:P149L	ENSP00000328423:P149L	P	+	2	0	C15orf60	71630444	0.003000	0.15002	0.000000	0.03702	0.085000	0.17905	1.696000	0.37773	0.229000	0.21039	0.609000	0.83330	CCT		0.537	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			T	73843391	C	T	73843391	3	4	428	1	0	0	0	0	1	0	0	0	1810	681	24	2	460	2	C15orf60	15	73843391	Missense_Mutation	SNP	C	TCGA-BP-5178-01A-01D-1429-08		73843391	28688001	37	23477											
ADAMTS17	170691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	100594117	100594117	+	Silent	SNP	T	T	C			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr15:100594117T>C	ENST00000268070.4	-	16	2385	c.2280A>G	c.(2278-2280)ctA>ctG	p.L760L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	760	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L760L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGTGCAGCGGTAGTTTGGTTG	0.532																																																1	Substitution - coding silent(1)	kidney(1)											302	287	292					15																	100594117		2203	4300	6503	SO:0001819	synonymous_variant	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2280A>G	15.37:g.100594117T>C			Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	CCDS10383.1																																																																																				0.532	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		C	100594117	T	C	100594117	2	2	428	1	0	0	0	0	0	0	0	1	262	1625	57	3		3	ADAMTS17	15	100594117	Silent	SNP	T	TCGA-BP-5178-01A-01D-1429-08	26750726	100594117	1937275	38	23478											
PDXDC1	23042	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15126793	15126793	+	Silent	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr16:15126793G>T	ENST00000396410.4	+	18	1744	c.1647G>T	c.(1645-1647)ctG>ctT	p.L549L	PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000563679.1_Silent_p.L567L|PDXDC1_ENST00000450288.2_Silent_p.L521L|PDXDC1_ENST00000447912.2_Silent_p.L458L|PDXDC1_ENST00000569715.1_Silent_p.L522L|PDXDC1_ENST00000325823.7_Silent_p.L534L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	549					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.L549L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGACTCCTGAAGAAGTTAA	0.413																																																1	Substitution - coding silent(1)	kidney(1)											94	100	98					16																	15126793		2197	4300	6497	SO:0001819	synonymous_variant	23042			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1647G>T	16.37:g.15126793G>T			B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Silent	SNP	ENST00000396410.4	37	CCDS32393.1																																																																																				0.413	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		T	15126793	G	T	15126793	2	4	428	1	0	0	0	0	0	0	0	1	11698	1277	45	4		4	PDXDC1	16	15126793	Silent	SNP	G	TCGA-BP-5178-01A-01D-1429-08		15126793	75227960	39	23479											
ZNF747	65988	broad.mit.edu	37	16	30545836	30545836	+	Silent	SNP	C	C	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr16:30545836C>A	ENST00000252799.3	-	1	832	c.165G>T	c.(163-165)cgG>cgT	p.R55R	ZNF747_ENST00000395094.3_Silent_p.R55R|AC002310.13_ENST00000568114.1_Intron|ZNF747_ENST00000569360.1_Silent_p.R55R|ZNF747_ENST00000568028.1_Silent_p.R55R|ZNF747_ENST00000535210.1_Silent_p.R55R|AC002310.12_ENST00000457283.3_RNA|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.R55R(1)		kidney(1)|lung(3)|prostate(1)	5						TCTGCGCGGGCCGCAGGCAGC	0.726																																																1	Substitution - coding silent(1)	kidney(1)											14	17	16					16																	30545836		2188	4288	6476	SO:0001819	synonymous_variant	65988			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"Zinc fingers, C2H2-type", "-"	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.165G>T	16.37:g.30545836C>A			A8K827|B7WNU3|Q59FB4|Q96NW0	Silent	SNP	ENST00000252799.3	37	CCDS10682.1																																																																																				0.726	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		A	30545836	C	A	30545836	2	1	428	1	0	0	0	0	0	0	0	1	18135	726	26	4		4	ZNF747	16	30545836	Silent	SNP	C	TCGA-BP-5178-01A-01D-1429-08	15419043	30545836	59808917	40	23480											
SLC9A5	6553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67290936	67290936	+	Silent	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr16:67290936C>T	ENST00000299798.11	+	7	1320	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	419					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.L419L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTCATCCTACTGGATAGGAC	0.557																																																1	Substitution - coding silent(1)	kidney(1)											89	92	91					16																	67290936		2005	4193	6198	SO:0001819	synonymous_variant	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1255C>T	16.37:g.67290936C>T			A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	CCDS42178.1																																																																																				0.557	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			T	67290936	C	T	67290936	2	4	428	1	0	0	0	0	0	0	0	1	14723	564	20	2		2	SLC9A5	16	67290936	Silent	SNP	C	TCGA-BP-5178-01A-01D-1429-08	36745100	67290936	23063817	41	23481											
MON1B	22879	hgsc.bcm.edu;ucsc.edu	37	16	77228407	77228409	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr16:77228407_77228409delCCT	ENST00000248248.3	+	4	1001_1003	c.651_653delCCT	c.(649-654)gacctc>gac	p.L218del	MON1B_ENST00000439557.2_In_Frame_Del_p.L109del|MON1B_ENST00000545553.1_In_Frame_Del_p.L72del|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	218										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						AGAACTATGACCTCCGCCGCCTG	0.631																																																0																																										SO:0001651	inframe_deletion	22879			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.651_653delCCT	16.37:g.77228407_77228409delCCT	ENSP00000248248:p.Leu218del		B4DDZ0|O94949	In_Frame_Del	DEL	ENST00000248248.3	37	CCDS10925.1																																																																																				0.631	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		-	77228409	CCT	-	77228407	7	5	428	1	0	1	0	1	0	0	0	0	9701	506	18	0	661	0	MON1B	16	77228407	In_Frame_Del	DEL	CCT	TCGA-BP-5178-01A-01D-1429-08	9937471	77228407	13126346	42	23482											
ZNF207	7756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30692370	30692370	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr17:30692370G>A	ENST00000321233.6	+	7	798	c.644G>A	c.(643-645)cGt>cAt	p.R215H	ZNF207_ENST00000577908.1_Missense_Mutation_p.R231H|ZNF207_ENST00000394670.4_Missense_Mutation_p.R231H|ZNF207_ENST00000341711.6_Missense_Mutation_p.R132H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R231H|ZNF207_ENST00000342555.6_Missense_Mutation_p.R234H	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	215					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R215H(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CCTGTTCCACGTCCTGGAATT	0.463																																																1	Substitution - Missense(1)	kidney(1)											85	82	83					17																	30692370		2203	4300	6503	SO:0001583	missense	7756			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.644G>A	17.37:g.30692370G>A	ENSP00000322777:p.Arg215His		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288249	0.95517	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.48201	0.88;0.82	5.87	5.87	0.94306	.	0.097054	0.64402	D	0.000001	T	0.42607	0.1210	L	0.29908	0.895	0.58432	D	0.999999	D;P;P;P;P	0.56287	0.975;0.914;0.914;0.914;0.914	P;P;P;P;P	0.45660	0.489;0.489;0.489;0.489;0.489	T	0.12372	-1.0550	10	0.13470	T	0.59	.	20.2119	0.98289	0.0:0.0:1.0:0.0	.	215;234;231;231;215	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	H	231;215;234;231;132;215	ENSP00000378165:R231H;ENSP00000344913:R132H	ENSP00000322777:R231H	R	+	2	0	ZNF207	27716483	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.788000	0.99064	2.784000	0.95788	0.585000	0.79938	CGT		0.463	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			A	30692370	G	A	30692370	3	1	428	1	0	0	0	0	1	0	0	0	17770	1145	40	1	722	1	ZNF207	17	30692370	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08		30692370	50502840	43	23483											
TOM1L1	10040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	53014035	53014035	+	Silent	SNP	T	T	C			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr17:53014035T>C	ENST00000575882.1	+	9	1233	c.880T>C	c.(880-882)Ttg>Ctg	p.L294L	TOM1L1_ENST00000572158.1_Silent_p.L287L|TOM1L1_ENST00000536554.1_Silent_p.L217L|TOM1L1_ENST00000570371.1_Silent_p.L294L|TOM1L1_ENST00000348161.4_Silent_p.L217L|TOM1L1_ENST00000540336.1_Silent_p.L182L|TOM1L1_ENST00000445275.2_Silent_p.L294L|TOM1L1_ENST00000575333.1_Silent_p.L294L	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	294					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.L294L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ACAAAGGATTTTGGAGCAAAA	0.274																																																1	Substitution - coding silent(1)	kidney(1)											59	60	60					17																	53014035		2203	4295	6498	SO:0001819	synonymous_variant	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.880T>C	17.37:g.53014035T>C			Q53G06|Q8N749	Silent	SNP	ENST00000575882.1	37	CCDS11582.1																																																																																				0.274	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		C	53014035	T	C	53014035	2	2	428	1	0	0	0	0	0	0	0	1	16357	1838	64	3		3	TOM1L1	17	53014035	Silent	SNP	T	TCGA-BP-5178-01A-01D-1429-08	22321665	53014035	28181175	44	23484											
EPX	8288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56277703	56277703	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr17:56277703G>A	ENST00000225371.5	+	10	1765	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	552					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.G552E(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	AGGAGGATTGGGCTGGACCTG	0.637											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											68	66	67					17																	56277703		2203	4300	6503	SO:0001583	missense	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1655G>A	17.37:g.56277703G>A	ENSP00000225371:p.Gly552Glu	1014	Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676386	0.88445	.	.	ENSG00000121053	ENST00000225371	T	0.75938	-0.98	5.66	5.66	0.87406	.	0.096332	0.64402	D	0.000001	D	0.90872	0.7132	H	0.96518	3.835	0.50039	D	0.999845	D	0.89917	1.0	D	0.97110	1.0	D	0.93123	0.6526	10	0.87932	D	0	-20.1905	17.6144	0.88064	0.0:0.0:1.0:0.0	.	552	P11678	PERE_HUMAN	E	552	ENSP00000225371:G552E	ENSP00000225371:G552E	G	+	2	0	EPX	53632702	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.739000	0.68622	2.832000	0.97577	0.655000	0.94253	GGG		0.637	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		A	56277703	G	A	56277703	3	1	428	1	0	0	0	0	1	0	0	0	5202	1232	43	2	1693	2	EPX	17	56277703	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	3263668	56277703	24917507	45	23485											
AZI1	22994	broad.mit.edu;hgsc.bcm.edu	37	17	79166553	79166553	+	Silent	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr17:79166553C>T	ENST00000269392.4	-	19	2668	c.2421G>A	c.(2419-2421)ctG>ctA	p.L807L	AZI1_ENST00000374782.3_Intron|AZI1_ENST00000450824.2_Silent_p.L804L|AZI1_ENST00000575907.1_Intron	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		807					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.L804L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCTGCTGGCCCAGCCGCTCCC	0.736																																																1	Substitution - coding silent(1)	kidney(1)											12	15	14					17																	79166553		2042	4155	6197	SO:0001819	synonymous_variant	22994																														ENST00000269392.4:c.2421G>A	17.37:g.79166553C>T			A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37																																																																																					0.736	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			T	79166553	C	T	79166553	2	4	428	1	0	0	0	0	0	0	0	1	1240	581	21	2		2	AZI1	17	79166553	Silent	SNP	C	TCGA-BP-5178-01A-01D-1429-08	22888850	79166553	2028657	46	23486											
B3GNTL1	146712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80915092	80915092	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr17:80915092T>G	ENST00000320865.3	-	10	908	c.895A>C	c.(895-897)Atc>Ctc	p.I299L	B3GNTL1_ENST00000576599.1_Missense_Mutation_p.I188L	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	299							transferase activity, transferring glycosyl groups (GO:0016757)	p.I299L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCTTTCCTGATCTTGTTCTCG	0.622																																																1	Substitution - Missense(1)	kidney(1)											176	161	166					17																	80915092		2203	4300	6503	SO:0001583	missense	146712			AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.895A>C	17.37:g.80915092T>G	ENSP00000319979:p.Ile299Leu		Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.941792	0.53079	.	.	ENSG00000175711	ENST00000320865	T	0.50548	0.74	3.67	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	M	0.78637	2.42	0.54753	D	0.999989	P	0.47545	0.897	B	0.41036	0.346	T	0.51601	-0.8685	9	.	.	.	-29.0067	8.8991	0.35484	0.0:0.0:0.0:1.0	.	299	Q67FW5	B3GNL_HUMAN	L	299	ENSP00000319979:I299L	.	I	-	1	0	B3GNTL1	78508381	1.000000	0.71417	0.997000	0.53966	0.510000	0.34073	2.809000	0.47971	1.654000	0.50703	0.533000	0.62120	ATC		0.622	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		G	80915092	T	G	80915092	3	3	428	1	0	0	0	0	1	0	0	0	1265	1435	50	5	202	5	B3GNTL1	17	80915092	Missense_Mutation	SNP	T	TCGA-BP-5178-01A-01D-1429-08	1748539	80915092	280118	47	23487											
REXO1	57455	broad.mit.edu;hgsc.bcm.edu	37	19	1827759	1827759	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:1827759C>A	ENST00000170168.4	-	2	1123	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	343						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)	p.Q343H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGTCGCACTGCACGGCCG	0.721																																																1	Substitution - Missense(1)	kidney(1)											10	12	12					19																	1827759		2167	4258	6425	SO:0001583	missense	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1029G>T	19.37:g.1827759C>A	ENSP00000170168:p.Gln343His		Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769983	0.49680	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.13901	2.55	4.12	3.04	0.35103	.	0.383769	0.26338	N	0.024957	T	0.32496	0.0831	M	0.71581	2.175	0.34831	D	0.739655	D;D	0.65815	0.994;0.995	D;P	0.78314	0.991;0.887	T	0.45498	-0.9257	10	0.72032	D	0.01	-37.3193	10.2611	0.43427	0.0:0.8341:0.0:0.1659	.	297;343	F5H016;Q8N1G1	.;REXO1_HUMAN	H	343;297	ENSP00000170168:Q343H	ENSP00000170168:Q343H	Q	-	3	2	REXO1	1778759	0.996000	0.38824	0.988000	0.46212	0.343000	0.28985	0.714000	0.25808	2.130000	0.65690	0.555000	0.69702	CAG		0.721	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		A	1827759	C	A	1827759	3	1	428	1	0	0	0	0	1	0	0	0	13247	564	20	4	2696	4	REXO1	19	1827759	Missense_Mutation	SNP	C	TCGA-BP-5178-01A-01D-1429-08		1827759	57301224	48	23488											
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	31769985	31769986	+	Missense_Mutation	DNP	AT	AT	TA			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A|T	A|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:31769985_31769986AT>TA	ENST00000240587.4	-	2	1040_1041	c.713_714AT>TA	c.(712-714)cAT>cTA	p.H238L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	238					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H238L(2)|p.H55L(2)|p.H238Q(1)|p.H55Q(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGTCGCGGTAATGCCCCGTCTC	0.594																																																6	Substitution - Missense(6)	kidney(6)																																								SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.713_714delinsTA	19.37:g.31769985_31769986delinsTA	ENSP00000240587:p.His238Leu		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.594	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		TA	31769986	AT	TA	31769985	3	4	428	1	0	0	0	0	1	0	0	0	16630	98	4	5	2535	5	TSHZ3	19	31769985	Missense_Mutation	DNP	AT	TCGA-BP-5178-01A-01D-1429-08	29942226	31769985	27358998	49	23489											
PLEKHG2	64857	hgsc.bcm.edu;ucsc.edu	37	19	39914662	39914671	+	Frame_Shift_Del	DEL	CCTCCAGGTG	CCTCCAGGTG	-			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	CCTCCAGGTG	CCTCCAGGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:39914662_39914671delCCTCCAGGTG	ENST00000409794.3	+	19	3739_3748	c.2889_2898delCCTCCAGGTG	c.(2887-2898)cacctccaggtgfs	p.HLQV963fs	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Frame_Shift_Del_p.HLQV904fs|PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Frame_Shift_Del_p.HLQV934fs	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	963					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L964L(1)|p.L905L(1)|p.L922L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCCCCTGCACCTCCAGGTGCCGGCTCTTA	0.562																																																3	Substitution - coding silent(3)	lung(3)																																								SO:0001589	frameshift_variant	64857			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2889_2898delCCTCCAGGTG	19.37:g.39914662_39914671delCCTCCAGGTG	ENSP00000386733:p.His963fs		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Frame_Shift_Del	DEL	ENST00000409794.3	37	CCDS33022.2																																																																																				0.562	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		-	39914671	CCTCCAGGTG	-	39914662	7	5	428	1	0	1	0	1	0	0	0	0	12071	506	18	0	2959	0	PLEKHG2	19	39914662	Frame_Shift_Del	DEL	CCTCCAGGTG	TCGA-BP-5178-01A-01D-1429-08	8144677	39914662	19214321	50	23490											
PRX	57716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40903260	40903260	+	Silent	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:40903260C>T	ENST00000324001.7	-	7	1269	c.999G>A	c.(997-999)gtG>gtA	p.V333V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	333					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V333V(1)		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)			GGTCCACCCCCACAGTCGGTG	0.667																																																1	Substitution - coding silent(1)	kidney(1)											16	18	17					19																	40903260		2135	4212	6347	SO:0001819	synonymous_variant	57716			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.999G>A	19.37:g.40903260C>T			Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	CCDS33028.1																																																																																				0.667	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		T	40903260	C	T	40903260	2	4	428	1	0	0	0	0	0	0	0	1	12647	581	21	2		2	PRX	19	40903260	Silent	SNP	C	TCGA-BP-5178-01A-01D-1429-08	988598	40903260	18225723	51	23491											
GIPR	2696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46174612	46174612	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:46174612G>A	ENST00000590918.1	+	4	341	c.242G>A	c.(241-243)cGt>cAt	p.R81H	GIPR_ENST00000304207.8_Intron|GIPR_ENST00000263281.3_Missense_Mutation_p.R81H	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	81					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)	p.R81H(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GCCACTGCCCGTGCGTCCTGC	0.662																																																1	Substitution - Missense(1)	kidney(1)											148	114	125					19																	46174612		2203	4300	6503	SO:0001583	missense	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.242G>A	19.37:g.46174612G>A	ENSP00000467494:p.Arg81His		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054920	0.75960	.	.	ENSG00000010310	ENST00000263281	T	0.53640	0.61	5.49	4.45	0.53987	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.123156	0.37530	N	0.002059	T	0.38825	0.1055	L	0.34521	1.04	0.80722	D	1	P;P	0.47409	0.895;0.784	B;B	0.42771	0.295;0.397	T	0.24799	-1.0150	10	0.48119	T	0.1	.	11.9643	0.53025	0.0848:0.0:0.9151:0.0	.	81;81	P48546;P48546-2	GIPR_HUMAN;.	H	81	ENSP00000263281:R81H	ENSP00000263281:R81H	R	+	2	0	GIPR	50866452	0.040000	0.19996	0.856000	0.33681	0.971000	0.66376	0.582000	0.23834	1.318000	0.45170	0.542000	0.68232	CGT		0.662	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			A	46174612	G	A	46174612	3	1	428	1	0	0	0	0	1	0	0	0	6397	1145	40	1	252	1	GIPR	19	46174612	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	5271352	46174612	12954371	52	23492											
KLK6	5653	broad.mit.edu;hgsc.bcm.edu	37	19	51462556	51462556	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:51462556G>A	ENST00000376851.3	-	6	1038	c.599C>T	c.(598-600)cCg>cTg	p.P200L	KLK6_ENST00000376853.4_Missense_Mutation_p.R72C|KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000594939.1_RNA|KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.P200L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ACATACCAGCGGACCCCCAGA	0.527																																																1	Substitution - Missense(1)	kidney(1)											130	120	124					19																	51462556		2203	4300	6503	SO:0001583	missense	5653			U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.599C>T	19.37:g.51462556G>A	ENSP00000366047:p.Pro200Leu		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	CCDS12811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	14.33|14.33	2.503903|2.503903	0.44558|0.44558	.|.	.|.	ENSG00000167755|ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750|ENST00000376853	D;D;D;D|D	0.98684|0.83506	-5.07;-5.07;-5.07;-5.07|-1.73	3.89|3.89	3.89|3.89	0.44902|0.44902	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	.|.	.|.	.|.	.|.	D|D	0.91334|0.91334	0.7267|0.7267	H|H	0.99498|0.99498	4.595|4.595	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.50710	1.0;1.0|0.938	D;D|P	0.97110|0.45099	0.996;1.0|0.469	D|D	0.94608|0.94608	0.7802|0.7802	9|9	0.87932|0.87932	D|D	0|0	.|.	13.7773|13.7773	0.63062|0.63062	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200;93|72	Q92876;Q92876-2|E7ETY0	KLK6_HUMAN;.|.	L|C	200;200;93;93|72	ENSP00000309148:P200L;ENSP00000366047:P200L;ENSP00000375684:P93L;ENSP00000409241:P93L|ENSP00000366049:R72C	ENSP00000309148:P200L|ENSP00000366049:R72C	P|R	-|-	2|1	0|0	KLK6|KLK6	56154368|56154368	1.000000|1.000000	0.71417|0.71417	0.341000|0.341000	0.25589|0.25589	0.018000|0.018000	0.09664|0.09664	8.539000|8.539000	0.90637|0.90637	2.156000|2.156000	0.67533|0.67533	0.645000|0.645000	0.84053|0.84053	CCG|CGC		0.527	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		A	51462556	G	A	51462556	3	1	428	1	0	0	0	0	1	0	0	0	8410	1116	39	1	139	1	KLK6	19	51462556	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	5287944	51462556	7666427	53	23493											
CACNG6	59285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54515324	54515324	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:54515324G>A	ENST00000252729.2	+	4	1254	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	CACNG6_ENST00000346968.2_Missense_Mutation_p.G176S|CACNG6_ENST00000352529.1_Missense_Mutation_p.G151S	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	222					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G222S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGGTCCCTGGGCTGCGGCGT	0.701																																																1	Substitution - Missense(1)	kidney(1)											24	29	28					19																	54515324		2196	4280	6476	SO:0001583	missense	59285			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.664G>A	19.37:g.54515324G>A	ENSP00000252729:p.Gly222Ser			Missense_Mutation	SNP	ENST00000252729.2	37	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372862	0.82573	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.69175	-0.38;1.56;1.56	3.76	3.76	0.43208	.	0.515069	0.18291	N	0.145712	T	0.68970	0.3059	L	0.29908	0.895	0.24229	N	0.995409	D;D;D	0.71674	0.998;0.997;0.99	D;D;D	0.70935	0.971;0.942;0.95	T	0.57400	-0.7818	10	0.32370	T	0.25	-3.403	11.4481	0.50136	0.0:0.0:1.0:0.0	.	151;176;222	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	S	222;151;176	ENSP00000252729:G222S;ENSP00000319135:G151S;ENSP00000319097:G176S	ENSP00000252729:G222S	G	+	1	0	CACNG6	59207136	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.278000	0.33179	2.421000	0.82119	0.558000	0.71614	GGC		0.701	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			A	54515324	G	A	54515324	3	1	428	1	0	0	0	0	1	0	0	0	2563	1232	43	2	678	2	CACNG6	19	54515324	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	3052768	54515324	4613659	54	23494											
PLCB1	23236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	8698474	8698474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr20:8698474G>T	ENST00000338037.6	+	14	1519	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*	PLCB1_ENST00000378637.2_Nonsense_Mutation_p.E498*|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Nonsense_Mutation_p.E498*	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	498					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.E498*(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAGCATGTTCGAGCCCTCATC	0.522																																																2	Substitution - Nonsense(2)	kidney(2)											50	43	45					20																	8698474		2203	4300	6503	SO:0001587	stop_gained	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1492G>T	20.37:g.8698474G>T	ENSP00000338185:p.Glu498*		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Nonsense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	45	11.782053	0.99602	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	.	.	.	5.95	5.95	0.96441	.	0.756820	0.13205	N	0.405609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	498;498;498;418;418	.	ENSP00000338185:E498X	E	+	1	0	PLCB1	8646474	1.000000	0.71417	0.993000	0.49108	0.862000	0.49288	9.569000	0.98170	2.824000	0.97209	0.655000	0.94253	GAG		0.522	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			T	8698474	G	T	8698474	4	4	428	1	0	0	0	0	0	1	0	0	12029	1059	37	4	1546	4	PLCB1	20	8698474	Nonsense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08		8698474	54327046	55	23495											
DIP2A	23181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47970565	47970565	+	Missense_Mutation	SNP	G	G	A	rs572074409		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr21:47970565G>A	ENST00000417564.2	+	23	2768	c.2747G>A	c.(2746-2748)cGc>cAc	p.R916H	DIP2A_ENST00000318711.7_Missense_Mutation_p.R917H|DIP2A_ENST00000400274.1_Missense_Mutation_p.R912H|DIP2A_ENST00000427143.2_Missense_Mutation_p.R852H			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	916					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R852H(1)|p.R917H(1)|p.R916H(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACCAAACAGCGCTTTCTGGAA	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21343	0.0		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	kidney(3)											77	77	77					21																	47970565		2037	4202	6239	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2747G>A	21.37:g.47970565G>A	ENSP00000392066:p.Arg916His		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154551	0.57259	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	N	0.22421	0.69	0.80722	D	1	B;B;B	0.18013	0.003;0.025;0.003	B;B;B	0.15870	0.002;0.014;0.004	T	0.06954	-1.0798	10	0.49607	T	0.09	-22.1421	11.6956	0.51542	0.0811:0.0:0.9189:0.0	.	917;852;916	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	H	912;852;917;916	ENSP00000383133:R912H;ENSP00000400528:R852H;ENSP00000323633:R917H;ENSP00000392066:R916H	ENSP00000323633:R917H	R	+	2	0	DIP2A	46794993	0.957000	0.32711	1.000000	0.80357	0.998000	0.95712	1.347000	0.33975	2.639000	0.89480	0.655000	0.94253	CGC		0.552	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		A	47970565	G	A	47970565	3	1	428	1	0	0	0	0	1	0	0	0	4529	1087	38	1	2919	1	DIP2A	21	47970565	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08		47970565	159330	56	23496											
NDUFA6	4700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42482196	42482196	+	Silent	SNP	G	G	A	rs150607291	byFrequency	TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr22:42482196G>A	ENST00000498737.2	-	3	588	c.456C>T	c.(454-456)caC>caT	p.H152H	NDUFA6_ENST00000602404.1_Silent_p.H126H|NDUFA6_ENST00000470753.1_Silent_p.H69H	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	152					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.H152H(1)		kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						TTCATGGATCGTGGCCAACAT	0.403													G|||	4	0.000798722	0.0008	0.0	5008	,	,		23465	0.0		0.001	False		,,,				2504	0.002															1	Substitution - coding silent(1)	kidney(1)						G		2,4404	4.2+/-10.8	0,2,2201	207	181	190		456	-11.5	0.2	22	dbSNP_134	190	15,8585	11.2+/-40.8	0,15,4285	no	coding-synonymous	NDUFA6	NM_002490.3		0,17,6486	AA,AG,GG		0.1744,0.0454,0.1307		152/155	42482196	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	4700			AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7690	protein-coding gene	gene with protein product	"complex I B14 subunit"	602138	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.456C>T	22.37:g.42482196G>A			B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Silent	SNP	ENST00000498737.2	37	CCDS33656.1																																																																																				0.403	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4	NM_002490		A	42482196	G	A	42482196	2	1	428	1	0	0	0	0	0	0	0	1	10271	1136	40	1		1	NDUFA6	22	42482196	Silent	SNP	G	TCGA-BP-5178-01A-01D-1429-08		42482196	8822370	57	23497											
CELSR1	9620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	46793698	46793698	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr22:46793698C>T	ENST00000262738.3	-	12	5573	c.5574G>A	c.(5572-5574)atG>atA	p.M1858I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1858	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.M1858I(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTGCGTTGTTCATGTTCAGGG	0.622																																																1	Substitution - Missense(1)	kidney(1)											130	80	97					22																	46793698		2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5574G>A	22.37:g.46793698C>T	ENSP00000262738:p.Met1858Ile		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	9.965	1.223771	0.22457	.	.	ENSG00000075275	ENST00000262738	T	0.68025	-0.3	3.98	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	U	0.000000	T	0.57533	0.2060	L	0.42245	1.32	0.80722	D	1	B;B	0.28998	0.23;0.012	B;B	0.24006	0.05;0.009	T	0.57021	-0.7882	10	0.28530	T	0.3	.	16.0314	0.80579	0.0:1.0:0.0:0.0	.	179;1858	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	I	1858	ENSP00000262738:M1858I	ENSP00000262738:M1858I	M	-	3	0	CELSR1	45172362	1.000000	0.71417	0.995000	0.50966	0.563000	0.35712	5.189000	0.65098	1.948000	0.56530	0.491000	0.48974	ATG		0.622	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46793698	C	T	46793698	3	4	428	1	0	0	0	0	1	0	0	0	3223	826	29	2	3566	2	CELSR1	22	46793698	Missense_Mutation	SNP	C	TCGA-BP-5178-01A-01D-1429-08	4311502	46793698	4510868	58	23498											
SBF1	6305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50893063	50893063	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr22:50893063G>A	ENST00000390679.3	-	35	5027	c.4843C>T	c.(4843-4845)Cct>Tct	p.P1615S	SBF1_ENST00000380817.3_Missense_Mutation_p.P1641S|SBF1_ENST00000348911.6_Missense_Mutation_p.P1616S|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1615					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P1641S(1)|p.P1615S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGGTTCAGGGGGCCCCTGG	0.667																																																2	Substitution - Missense(2)	kidney(2)											43	50	48					22																	50893063		1883	4084	5967	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4843C>T	22.37:g.50893063G>A	ENSP00000375097:p.Pro1615Ser		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.355|2.355	-0.348049|-0.348049	0.05208|0.05208	.|.	.|.	ENSG00000100241|ENSG00000100241	ENST00000418590|ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D|D;D;D	0.81659|0.85339	-1.52|-1.97;-1.97;-1.97	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	0.567885|0.567885	0.16522|0.16522	N|N	0.210741|0.210741	T|T	0.78717|0.78717	0.4327|0.4327	L|L	0.34521|0.34521	1.04|1.04	0.39911|0.39911	D|D	0.974036|0.974036	.|B;B;B	.|0.24043	.|0.0;0.096;0.0	.|B;B;B	.|0.21151	.|0.002;0.033;0.001	T|T	0.73936|0.73936	-0.3825|-0.3825	8|10	0.23891|0.18710	T|T	0.37|0.47	.|.	17.2455|17.2455	0.87027|0.87027	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1615;1641;162	.|O95248;O95248-4;A6PVG7	.|MTMR5_HUMAN;.;.	L|S	162|1641;1616;1651;1615	ENSP00000401538:P162L|ENSP00000370196:P1641S;ENSP00000252027:P1616S;ENSP00000375097:P1615S	ENSP00000401538:P162L|ENSP00000336522:P1651S	P|P	-|-	2|1	0|0	SBF1|SBF1	49239929|49239929	0.885000|0.885000	0.30320|0.30320	0.688000|0.688000	0.30117|0.30117	0.411000|0.411000	0.31082|0.31082	3.549000|3.549000	0.53681|0.53681	2.236000|2.236000	0.73375|0.73375	0.462000|0.462000	0.41574|0.41574	CCC|CCT		0.667	SBF1-201	KNOWN	basic	protein_coding	protein_coding				A	50893063	G	A	50893063	3	1	428	1	0	0	0	0	1	0	0	0	13864	1232	43	2	784	2	SBF1	22	50893063	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	4099365	50893063	411503	59	23499											
CA5B	11238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	15790716	15790716	+	Silent	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chrX:15790716C>T	ENST00000318636.3	+	4	574	c.438C>T	c.(436-438)gaC>gaT	p.D146D	CA5B_ENST00000454127.2_Silent_p.D146D	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	100						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.D146D(1)		endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					ACACCGTGGACAGCAAATGCT	0.478																																																1	Substitution - coding silent(1)	kidney(1)											157	145	149					X																	15790716		2203	4300	6503	SO:0001819	synonymous_variant	11238			AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"Carbonic anhydrases"	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.438C>T	X.37:g.15790716C>T			A6NEZ4	Silent	SNP	ENST00000318636.3	37	CCDS14171.1																																																																																				0.478	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		T	15790716	C	T	15790716	2	4	428	1	0	0	0	0	0	0	0	1	2522	477	17	2		2	CA5B	23	15790716	Silent	SNP	C	TCGA-BP-5178-01A-01D-1429-08		15790716	139479844	60	23500											
MED12	9968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	70341181	70341181	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chrX:70341181G>T	ENST00000374080.3	+	6	772	c.740G>T	c.(739-741)gGa>gTa	p.G247V	MED12_ENST00000374102.1_Missense_Mutation_p.G247V|MED12_ENST00000333646.6_Missense_Mutation_p.G247V			Q93074	MED12_HUMAN	mediator complex subunit 12	247					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G247V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCATAGGATGGAATGCTGGAC	0.488			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	2	Substitution - Missense(2)	kidney(2)											116	104	108					X																	70341181		1946	4125	6071	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.740G>T	X.37:g.70341181G>T	ENSP00000363193:p.Gly247Val		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.032206	0.75504	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.72282	-0.62;-0.61;-0.61;-0.64	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85008	0.5599	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.97110	0.998;0.998;1.0;0.995	D	0.86539	0.1827	10	0.87932	D	0	-8.3415	18.4857	0.90828	0.0:0.0:1.0:0.0	.	247;94;247;247	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	V	247;247;247;247;215	ENSP00000333125:G247V;ENSP00000363215:G247V;ENSP00000363193:G247V;ENSP00000414203:G215V	ENSP00000333125:G247V	G	+	2	0	MED12	70257906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.381000	0.97205	2.562000	0.86427	0.600000	0.82982	GGA		0.488	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		T	70341181	G	T	70341181	3	4	428	1	0	0	0	0	1	0	0	0	9430	1174	41	4	762	4	MED12	23	70341181	Missense_Mutation	SNP	G	TCGA-BP-5178-01A-01D-1429-08	54550465	70341181	84929379	61	23501											
NONO	4841	broad.mit.edu;hgsc.bcm.edu	37	X	70516749	70516749	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chrX:70516749T>G	ENST00000276079.8	+	7	1000	c.795T>G	c.(793-795)taT>taG	p.Y265*	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Nonsense_Mutation_p.Y265*|NONO_ENST00000373841.1_Nonsense_Mutation_p.Y265*|NONO_ENST00000535149.1_Nonsense_Mutation_p.Y176*	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	265	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y265*(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCTTTGAGTATGAATATGCCA	0.517			T	TFE3	papillary renal cancer																																		Dom	yes		X	Xq13.1	4841	"non-POU domain containing, octamer-binding"		E	1	Substitution - Nonsense(1)	kidney(1)											55	47	50					X																	70516749		2203	4300	6503	SO:0001587	stop_gained	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.795T>G	X.37:g.70516749T>G	ENSP00000276079:p.Tyr265*		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Nonsense_Mutation	SNP	ENST00000276079.8	37	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	33|33	5.280353|5.280353	0.95489|0.95489	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000418921|ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000413858	.|.	.|.	.|.	5.23|5.23	4.06|4.06	0.47325|0.47325	.|.	.|0.058004	.|0.64402	.|D	.|0.000001	T|.	0.17704|.	0.0425|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29882|.	-0.9997|.	3|.	.|0.02654	.|T	.|1	-6.2274|-6.2274	7.0077|7.0077	0.24846|0.24846	0.0:0.2505:0.0:0.7495|0.0:0.2505:0.0:0.7495	.|.	.|.	.|.	.|.	R|X	127|176;265;265;265;173	.|.	.|ENSP00000276079:Y265X	M|Y	+|+	2|3	0|2	NONO|NONO	70433474|70433474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.774000|0.774000	0.26675|0.26675	0.804000|0.804000	0.34136|0.34136	0.430000|0.430000	0.28490|0.28490	ATG|TAT		0.517	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		G	70516749	T	G	70516749	4	3	428	1	0	0	0	0	0	1	0	0	10536	1471	51	5	813	5	NONO	23	70516749	Nonsense_Mutation	SNP	T	TCGA-BP-5178-01A-01D-1429-08	175568	70516749	84753811	62	23502											
NIPAL3	57185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24766690	24766690	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr1:24766690T>A	ENST00000374399.4	+	3	490	c.122T>A	c.(121-123)aTc>aAc	p.I41N	NIPAL3_ENST00000358028.4_Missense_Mutation_p.I41N|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Missense_Mutation_p.I41N|NIPAL3_ENST00000339255.2_Missense_Mutation_p.I41N	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	41						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.I41N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CTCTTGGCGATCTTCGGGCAC	0.542																																																1	Substitution - Missense(1)	kidney(1)											106	93	97					1																	24766690		2203	4300	6503	SO:0001583	missense	57185			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.122T>A	1.37:g.24766690T>A	ENSP00000363520:p.Ile41Asn		A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471997	0.63737	.	.	ENSG00000001461	ENST00000374399;ENST00000358028;ENST00000339255;ENST00000428131	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.96194	0.8759	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.96873	0.9641	10	0.87932	D	0	-15.5	14.6822	0.69026	0.0:0.0:0.0:1.0	.	41;41;41	Q6P499-3;Q6P499;A6NN97	.;NPAL3_HUMAN;.	N	41	ENSP00000363520:I41N;ENSP00000350722:I41N;ENSP00000343549:I41N;ENSP00000406509:I41N	ENSP00000343549:I41N	I	+	2	0	NIPAL3	24639277	1.000000	0.71417	0.358000	0.25811	0.375000	0.29983	6.565000	0.73974	1.878000	0.54408	0.477000	0.44152	ATC		0.542	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		A	24766690	T	A	24766690	3	1	429	1	0	0	0	0	1	0	0	0	10428	1435	50	5	128	5	NIPAL3	1	24766690	Missense_Mutation	SNP	T	TCGA-BP-5180-01A-01D-1429-08		24766690	224483931	1	23503											
IPP	3652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46184982	46184983	+	Missense_Mutation	DNP	GT	GT	CA			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr1:46184982_46184983GT>CA	ENST00000396478.3	-	6	1180_1181	c.1078_1079AC>TG	c.(1078-1080)ACt>TGt	p.T360C		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	360						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.T360S(2)|p.T360C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ATAGCATTCAGTACAATCAAAA	0.371																																																3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1078_1079delinsCA	1.37:g.46184982_46184983delinsCA	ENSP00000379739:p.Thr360Cys		A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1																																																																																				0.371	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		CA	46184983	GT	CA	46184982	3	2	429	1	0	0	0	0	1	0	0	0	7802	1029	36	4	793	4	IPP	1	46184982	Missense_Mutation	DNP	GT	TCGA-BP-5180-01A-01D-1429-08	21418292	46184982	203065639	2	23504											
C2orf44	80304	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	24261024	24261024	+	Silent	SNP	G	G	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr2:24261024G>C	ENST00000295148.4	-	2	1398	c.1341C>G	c.(1339-1341)acC>acG	p.T447T	C2orf44_ENST00000406895.3_Silent_p.T447T	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	447								p.T447T(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTAGAGTAGGTAGTCTGGC	0.363			T	ALK	NSCLC																																		Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	1	Substitution - coding silent(1)	kidney(1)											108	114	112					2																	24261024		2203	4300	6503	SO:0001819	synonymous_variant	80304			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1341C>G	2.37:g.24261024G>C			D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	CCDS1705.1																																																																																				0.363	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		C	24261024	G	C	24261024	2	2	429	1	0	0	0	0	0	0	0	1	2170	987	35	4		4	C2orf44	2	24261024	Silent	SNP	G	TCGA-BP-5180-01A-01D-1429-08		24261024	218938349	3	23505											
SCN1A	6323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	166870294	166870294	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr2:166870294G>T	ENST00000303395.4	-	18	3664	c.3665C>A	c.(3664-3666)aCc>aAc	p.T1222N	SCN1A_ENST00000423058.2_Missense_Mutation_p.T1222N|SCN1A_ENST00000409050.1_Missense_Mutation_p.T1194N|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T1211N|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1222					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.T1211N(1)|p.T1222N(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACAATGAAGGTCTCAAACCA	0.388																																																2	Substitution - Missense(2)	kidney(2)											208	178	188					2																	166870294		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3665C>A	2.37:g.166870294G>T	ENSP00000303540:p.Thr1222Asn		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347138	0.82022	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.43	5.43	0.79202	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000008	D	0.95130	0.8422	M	0.88031	2.925	0.49213	D	0.999764	D;P;D	0.60575	0.988;0.611;0.974	P;B;P	0.62885	0.832;0.34;0.908	D	0.95713	0.8759	10	0.87932	D	0	.	19.2261	0.93819	0.0:0.0:1.0:0.0	.	1211;1194;1222	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	N	1222;1222;1211;1194	ENSP00000407030:T1222N;ENSP00000303540:T1222N;ENSP00000364554:T1211N;ENSP00000386312:T1194N	ENSP00000303540:T1222N	T	-	2	0	SCN1A	166578540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.571000	0.82399	2.538000	0.85594	0.650000	0.86243	ACC		0.388	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		T	166870294	G	T	166870294	3	4	429	1	0	0	0	0	1	0	0	0	13920	1261	44	4	2400	4	SCN1A	2	166870294	Missense_Mutation	SNP	G	TCGA-BP-5180-01A-01D-1429-08	142609270	166870294	76329079	4	23506											
CASP10	843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	202050621	202050621	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr2:202050621delT	ENST00000272879.5	+	2	305	c.121delT	c.(121-123)tttfs	p.F41fs	CASP10_ENST00000286186.6_Frame_Shift_Del_p.F41fs|CASP10_ENST00000374650.3_Frame_Shift_Del_p.F41fs|CASP10_ENST00000346817.5_Frame_Shift_Del_p.F41fs|CASP10_ENST00000360132.3_Frame_Shift_Del_p.F41fs|CASP10_ENST00000313728.7_Frame_Shift_Del_p.F41fs|CASP10_ENST00000448480.1_Frame_Shift_Del_p.F41fs|CASP10_ENST00000492363.1_3'UTR	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	41	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GAACCTCAAGTTTCTCTGCAT	0.448																																																0													59	61	61					2																	202050621		2203	4300	6503	SO:0001589	frameshift_variant	843			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.121delT	2.37:g.202050621delT	ENSP00000272879:p.Phe41fs		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Frame_Shift_Del	DEL	ENST00000272879.5	37	CCDS2338.1																																																																																				0.448	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		-	202050621	T	-	202050621	7	5	429	1	0	1	0	1	0	0	0	0	2671	1725	60	0	123	0	CASP10	2	202050621	Frame_Shift_Del	DEL	T	TCGA-BP-5180-01A-01D-1429-08	35180327	202050621	41148752	5	23507											
DOCK10	55619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225710302	225710302	+	Missense_Mutation	SNP	A	A	C	rs372387177		TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr2:225710302A>C	ENST00000258390.7	-	20	2360	c.2293T>G	c.(2293-2295)Tat>Gat	p.Y765D	DOCK10_ENST00000409592.3_Missense_Mutation_p.Y759D	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	765	DHR-1.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y765D(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GTGACGTGATAAAAAGAAAAC	0.403																																																1	Substitution - Missense(1)	kidney(1)											144	135	138					2																	225710302		1862	4103	5965	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2293T>G	2.37:g.225710302A>C	ENSP00000258390:p.Tyr765Asp		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669257	0.67814	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.15017	2.46;2.46	5.43	3.06	0.35304	.	0.120188	0.64402	D	0.000018	T	0.37433	0.1003	M	0.90977	3.165	0.45676	D	0.998596	P;P	0.51653	0.947;0.848	P;P	0.52909	0.711;0.713	T	0.28522	-1.0041	10	0.87932	D	0	.	8.3021	0.32021	0.784:0.0:0.216:0.0	.	765;759	Q96BY6;B3FL70	DOC10_HUMAN;.	D	759;765	ENSP00000386694:Y759D;ENSP00000258390:Y765D	ENSP00000258390:Y765D	Y	-	1	0	DOCK10	225418546	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	4.321000	0.59209	0.369000	0.24510	-0.264000	0.10439	TAT		0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			C	225710302	A	C	225710302	3	2	429	1	0	0	0	0	1	0	0	0	4687	362	13	5	4415	5	DOCK10	2	225710302	Missense_Mutation	SNP	A	TCGA-BP-5180-01A-01D-1429-08	23659681	225710302	17489071	6	23508											
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183747	10183748	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.|C	.|T	.|C	.|C	Unknown	Untested|Valid	Somatic	Phase_I	WXS	none|Illumina Miseq			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr3:10183747_10183748CC>AT	ENST00000256474.2	+	1	1056_1057	c.216_217CC>AT	c.(214-219)tcCCag>tcATag	p.Q73*	VHL_ENST00000345392.2_Nonsense_Mutation_p.Q73*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	73			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q73*(5)|p.Q73fs*86(2)|p.E70fs*85(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S72>?(1)|p.P71fs*56(1)|p.V74fs*58(1)|p.S72S(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCGAGCCCTCCCAGGTCATCTT	0.723		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Deletion - Frameshift(7)|Substitution - Nonsense(5)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)|Substitution - coding silent(1)	kidney(16)|soft_tissue(1)	GRCh37	CM951269|HD971372	VHL	D|M																																				SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	Exception_encountered	3.37:g.10183747_10183748delinsAT	ENSP00000256474:p.Gln73*		B2RE45|Q13599|Q6PDA9	Silent|Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.723	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		AT	10183748	CC	AT	10183747	4	1	429	1	0	0	0	0	0	1	0	0	17167	610	22	4	218	4	VHL	3	10183747	Nonsense_Mutation	DNP	CC	TCGA-BP-5180-01A-01D-1429-08		10183747	187838683	7	23509											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52637711	52637711	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr3:52637711G>A	ENST00000296302.7	-	17	2606	c.2605C>T	c.(2605-2607)Cag>Tag	p.Q869*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q884*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q869*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q869*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q869*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q869*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q837*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q884*			Q86U86	PB1_HUMAN	polybromo 1	869					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q869*(2)|p.Q837*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAAAACTGCTGAAGTTCTACT	0.338			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											59	56	57					3																	52637711		2203	4299	6502	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2605C>T	3.37:g.52637711G>A	ENSP00000296302:p.Gln869*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	41	8.591612	0.98877	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.72	4.83	0.62350	.	0.052873	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-23.7529	16.8561	0.86006	0.0:0.1286:0.8714:0.0	.	.	.	.	X	837;869;869;869;869;869;884;884;869;828	.	ENSP00000296302:Q869X	Q	-	1	0	PBRM1	52612751	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.893000	0.87330	1.507000	0.48752	0.650000	0.86243	CAG		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52637711	G	A	52637711	4	1	429	1	0	0	0	0	0	1	0	0	11493	1299	45	2	2351	2	PBRM1	3	52637711	Nonsense_Mutation	SNP	G	TCGA-BP-5180-01A-01D-1429-08	42453964	52637711	145384719	8	23510											
ROBO2	6092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	77666705	77666705	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr3:77666705C>G	ENST00000461745.1	+	22	4235	c.3335C>G	c.(3334-3336)aCt>aGt	p.T1112S	ROBO2_ENST00000332191.8_Missense_Mutation_p.T1112S|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Missense_Mutation_p.T1128S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1112					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.T1112S(1)|p.T1128S(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAGTACAAACTTACTTACAC	0.428																																																2	Substitution - Missense(2)	kidney(2)											129	117	121					3																	77666705		1975	4171	6146	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3335C>G	3.37:g.77666705C>G	ENSP00000417164:p.Thr1112Ser		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.35|14.35	2.507916|2.507916	0.44558|0.44558	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.62788	.|0.0;0.03;0.04	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.47093	.|D	.|0.000241	T|T	0.52948|0.52948	0.1766|0.1766	N|N	0.20845|0.20845	0.615|0.615	.|.	.|.	.|.	.|P;P;P	.|0.48230	.|0.801;0.907;0.816	.|B;P;B	.|0.46362	.|0.344;0.514;0.232	T|T	0.48581|0.48581	-0.9023|-0.9023	4|9	.|0.10377	.|T	.|0.69	.|.	19.5819|19.5819	0.95471|0.95471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1128;1112;1112	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	V|S	269|1128;1128;1112;1112	.|ENSP00000417335:T1128S;ENSP00000417164:T1112S;ENSP00000327536:T1112S	.|ENSP00000327536:T1112S	L|T	+|+	1|2	0|0	ROBO2|ROBO2	77749395|77749395	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.725000|0.725000	0.41563|0.41563	7.487000|7.487000	0.81328|0.81328	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	CTT|ACT		0.428	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		G	77666705	C	G	77666705	3	3	429	1	0	0	0	0	1	0	0	0	13520	565	20	4	3423	4	ROBO2	3	77666705	Missense_Mutation	SNP	C	TCGA-BP-5180-01A-01D-1429-08	25028994	77666705	120355725	9	23511											
DNAJC21	134218	hgsc.bcm.edu;ucsc.edu	37	5	34935891	34935892	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr5:34935891_34935892delCG	ENST00000342382.4	+	3	495_496	c.268_269delCG	c.(268-270)cgcfs	p.R90fs	DNAJC21_ENST00000303525.7_Frame_Shift_Del_p.R90fs|DNAJC21_ENST00000382021.2_Frame_Shift_Del_p.R90fs			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	90					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AGATTTGCTACGCTATTTCACC	0.361																																																0																																										SO:0001589	frameshift_variant	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.268_269delCG	5.37:g.34935891_34935892delCG	ENSP00000343728:p.Arg90fs		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Frame_Shift_Del	DEL	ENST00000342382.4	37	CCDS34144.1																																																																																				0.361	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		-	34935892	CG	-	34935891	7	5	429	1	0	1	0	1	0	0	0	0	4642	536	19	0	278	0	DNAJC21	5	34935891	Frame_Shift_Del	DEL	CG	TCGA-BP-5180-01A-01D-1429-08		34935891	145979369	10	23512											
KIF2A	3796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	61677018	61677018	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr5:61677018C>T	ENST00000401507.3	+	19	2284	c.1973C>T	c.(1972-1974)tCa>tTa	p.S658L	KIF2A_ENST00000407818.3_Missense_Mutation_p.S696L|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.S612L|KIF2A_ENST00000381103.2_Missense_Mutation_p.S638L	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S631L(1)|p.S696L(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GATGTCGATTCATATGCTACA	0.343																																																2	Substitution - Missense(2)	kidney(2)											166	179	175					5																	61677018		2203	4300	6503	SO:0001583	missense	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1973C>T	5.37:g.61677018C>T	ENSP00000385622:p.Ser658Leu		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372915	0.61624	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857	T;T;T;T	0.73789	-0.64;-0.63;-0.78;-0.64	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	N	0.08118	0	0.80722	D	1	B;B;B;B	0.25521	0.032;0.055;0.128;0.001	B;B;B;B	0.24701	0.025;0.055;0.043;0.004	T	0.54450	-0.8292	10	0.19590	T	0.45	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	696;696;658;638	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	L	658;638;696;612	ENSP00000385622:S658L;ENSP00000370493:S638L;ENSP00000385000:S696L;ENSP00000423772:S612L	ENSP00000370493:S638L	S	+	2	0	KIF2A	61712775	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.785000	0.95823	0.655000	0.94253	TCA		0.343	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		T	61677018	C	T	61677018	3	4	429	1	0	0	0	0	1	0	0	0	8299	838	29	2	2165	2	KIF2A	5	61677018	Missense_Mutation	SNP	C	TCGA-BP-5180-01A-01D-1429-08	26741127	61677018	119238242	11	23513											
PCDHA12	56137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140255906	140255906	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr5:140255906G>A	ENST00000398631.2	+	1	849	c.849G>A	c.(847-849)atG>atA	p.M283I	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	283	Cadherin 3. {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)	p.M283I(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCAAAATGATTTTGCCAG	0.363																																					Pancreas(113;759 1672 13322 24104 50104)											1	Substitution - Missense(1)	kidney(1)											107	113	111					5																	140255906		1851	4102	5953	SO:0001583	missense	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.849G>A	5.37:g.140255906G>A	ENSP00000381628:p.Met283Ile		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	9.059	0.993914	0.19043	.	.	ENSG00000251664	ENST00000398631	T	0.51071	0.72	5.07	2.07	0.26955	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16471	0.0396	N	0.01048	-1.04	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.11329	0.001;0.006	T	0.16512	-1.0400	9	0.66056	D	0.02	.	1.492	0.02459	0.1863:0.1706:0.467:0.1761	.	283;283	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	I	283	ENSP00000381628:M283I	ENSP00000381628:M283I	M	+	3	0	PCDHA12	140236090	0.000000	0.05858	0.779000	0.31741	0.924000	0.55760	-0.027000	0.12371	0.514000	0.28300	0.591000	0.81541	ATG		0.363	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		A	140255906	G	A	140255906	3	1	429	1	0	0	0	0	1	0	0	0	11524	1290	45	2	851	2	PCDHA12	5	140255906	Missense_Mutation	SNP	G	TCGA-BP-5180-01A-01D-1429-08	78578888	140255906	40659354	12	23514											
RAB32	10981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	146875689	146875689	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr6:146875689delT	ENST00000367495.3	+	3	805	c.626delT	c.(625-627)attfs	p.I209fs		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	209					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GTGGACAAAATTAAGCTAGAT	0.428																																																0													126	126	126					6																	146875689		2203	4300	6503	SO:0001589	frameshift_variant	10981			U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"RAB, member RAS oncogene", "A-kinase anchor proteins"	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.626delT	6.37:g.146875689delT	ENSP00000356465:p.Ile209fs			Frame_Shift_Del	DEL	ENST00000367495.3	37	CCDS5210.1																																																																																				0.428	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		-	146875689	T	-	146875689	7	5	429	1	0	1	0	1	0	0	0	0	12927	1493	52	0	636	0	RAB32	6	146875689	Frame_Shift_Del	DEL	T	TCGA-BP-5180-01A-01D-1429-08		146875689	24239378	13	23515											
PRKDC	5591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	48794597	48794597	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr8:48794597T>C	ENST00000314191.2	-	38	4891	c.4835A>G	c.(4834-4836)cAc>cGc	p.H1612R	PRKDC_ENST00000338368.3_Missense_Mutation_p.H1612R|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1613					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.H1613R(1)|p.H1612R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAGTCCTTGGTGTTTCTGGTT	0.453								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											2	Substitution - Missense(2)	kidney(2)											150	143	145					8																	48794597		1917	4132	6049	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4835A>G	8.37:g.48794597T>C	ENSP00000313420:p.His1612Arg		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	T	9.051	0.992089	0.18966	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02197	4.47;4.4	5.28	4.1	0.47936	Armadillo-like helical (1);Armadillo-type fold (1);	0.624544	0.17022	N	0.190089	T	0.03178	0.0093	L	0.44542	1.39	0.23946	N	0.996381	B;B	0.20459	0.045;0.045	B;B	0.21546	0.035;0.035	T	0.35201	-0.9798	10	0.49607	T	0.09	.	11.4471	0.50129	0.1352:0.0:0.0:0.8648	.	1612;1613	E7EUY0;P78527	.;PRKDC_HUMAN	R	1612	ENSP00000313420:H1612R;ENSP00000345182:H1612R	ENSP00000313420:H1612R	H	-	2	0	PRKDC	48957150	0.996000	0.38824	0.012000	0.15200	0.412000	0.31113	2.938000	0.48987	0.834000	0.34852	0.377000	0.23210	CAC		0.453	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		C	48794597	T	C	48794597	3	2	429	1	0	0	0	0	1	0	0	0	12526	1696	59	3	7748	3	PRKDC	8	48794597	Missense_Mutation	SNP	T	TCGA-BP-5180-01A-01D-1429-08		48794597	97569425	14	23516											
SULF1	23213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	70533276	70533276	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr8:70533276C>T	ENST00000260128.4	+	14	2101	c.1384C>T	c.(1384-1386)Caa>Taa	p.Q462*	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Nonsense_Mutation_p.Q462*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.Q462*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.Q462*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	462					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.Q462*(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGAAGTGGCAATGCATTGA	0.453																																																1	Substitution - Nonsense(1)	kidney(1)											74	77	76					8																	70533276		2203	4300	6503	SO:0001587	stop_gained	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1384C>T	8.37:g.70533276C>T	ENSP00000260128:p.Gln462*		Q86YV8|Q8NCA2|Q9UPS5	Nonsense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	46	12.849901	0.99701	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	.	.	.	5.95	5.95	0.96441	.	0.049007	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	462	.	ENSP00000260128:Q462X	Q	+	1	0	SULF1	70695830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.501000	0.81600	2.824000	0.97209	0.655000	0.94253	CAA		0.453	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		T	70533276	C	T	70533276	4	4	429	1	0	0	0	0	0	1	0	0	15375	711	25	2	1422	2	SULF1	8	70533276	Nonsense_Mutation	SNP	C	TCGA-BP-5180-01A-01D-1429-08	21738679	70533276	75830746	15	23517											
NCOA4	8031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	51582253	51582253	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr10:51582253G>A	ENST00000443446.1	+	6	780	c.551G>A	c.(550-552)tGt>tAt	p.C184Y	NCOA4_ENST00000438493.1_Missense_Mutation_p.C200Y|NCOA4_ENST00000430396.2_Missense_Mutation_p.C84Y|NCOA4_ENST00000452682.1_Missense_Mutation_p.C200Y|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.C184Y|NCOA4_ENST00000414907.2_Missense_Mutation_p.C18Y|NCOA4_ENST00000374087.4_Missense_Mutation_p.C184Y|NCOA4_ENST00000374082.1_Missense_Mutation_p.C184Y	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	184					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.C200Y(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AAGAGAGGCTGTATCTCCATG	0.353			T	RET	papillary thyroid																																		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	1	Substitution - Missense(1)	kidney(1)											106	104	105					10																	51582253		2203	4300	6503	SO:0001583	missense	8031			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.551G>A	10.37:g.51582253G>A	ENSP00000390713:p.Cys184Tyr		A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.538912	0.00143	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000330923;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.21734	2.56;2.55;2.29;2.56;1.99;2.56;2.28;2.56	5.87	-8.19	0.01049	.	1.641800	0.02578	N	0.098536	T	0.04907	0.0132	N	0.01289	-0.905	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.33624	-0.9861	10	0.02654	T	1	-18.8641	6.003	0.19531	0.302:0.1075:0.4852:0.1052	.	84;200;200;184	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	Y	200;200;84;184;184;18;184;184;184	ENSP00000405146:C200Y;ENSP00000395465:C200Y;ENSP00000393053:C84Y;ENSP00000363200:C184Y;ENSP00000411018:C18Y;ENSP00000344552:C184Y;ENSP00000363195:C184Y;ENSP00000390713:C184Y	ENSP00000332421:C184Y	C	+	2	0	NCOA4	51252259	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.150000	0.10189	-1.287000	0.02381	-1.021000	0.02439	TGT		0.353	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		A	51582253	G	A	51582253	3	1	429	1	0	0	0	0	1	0	0	0	10233	1377	48	2	621	2	NCOA4	10	51582253	Missense_Mutation	SNP	G	TCGA-BP-5180-01A-01D-1429-08		51582253	83952494	16	23518											
TRIM8	81603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	104404879	104404879	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr10:104404879T>C	ENST00000302424.7	+	1	627	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	169					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.Y169H(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTACTGCTGCTACTACAGCGG	0.667																																																1	Substitution - Missense(1)	kidney(1)											14	15	15					10																	104404879		1655	3272	4927	SO:0001583	missense	81603			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.505T>C	10.37:g.104404879T>C	ENSP00000302120:p.Tyr169His		A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834420	0.71373	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.56776	0.44	4.87	4.87	0.63330	.	0.114692	0.64402	N	0.000009	T	0.33265	0.0857	N	0.08118	0	0.54753	D	0.999984	P	0.51653	0.947	B	0.41374	0.355	T	0.25779	-1.0122	10	0.37606	T	0.19	.	14.4753	0.67541	0.0:0.0:0.0:1.0	.	169	Q9BZR9	TRIM8_HUMAN	H	169	ENSP00000302120:Y169H	ENSP00000302120:Y169H	Y	+	1	0	TRIM8	104394869	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.565000	0.82337	1.826000	0.53198	0.379000	0.24179	TAC		0.667	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		C	104404879	T	C	104404879	3	2	429	1	0	0	0	0	1	0	0	0	16553	1522	53	3	507	3	TRIM8	10	104404879	Missense_Mutation	SNP	T	TCGA-BP-5180-01A-01D-1429-08	52822626	104404879	31129868	17	23519											
GPR123	84435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	134910562	134910562	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr10:134910562C>T	ENST00000392607.3	+	3	524	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	GPR123_ENST00000607359.1_Missense_Mutation_p.L750F	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	30					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L30F(1)|p.L750F(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGTCATGCTGCTCTGCCTCCT	0.612																																																2	Substitution - Missense(2)	kidney(2)											151	116	128					10																	134910562		2203	4300	6503	SO:0001583	missense	84435			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.88C>T	10.37:g.134910562C>T	ENSP00000376384:p.Leu30Phe		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158554	0.57368	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.39787	1.06	3.85	3.85	0.44370	GPCR, family 2-like (1);	0.330102	0.20831	N	0.084884	T	0.52338	0.1728	M	0.74881	2.28	0.80722	D	1	B;P	0.41345	0.201;0.746	B;P	0.51170	0.236;0.661	T	0.55872	-0.8072	10	0.62326	D	0.03	-21.8247	7.7121	0.28684	0.0:0.8809:0.0:0.1191	.	30;750	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	F	750;750;30	ENSP00000376384:L30F	ENSP00000357566:L750F	L	+	1	0	GPR123	134760552	1.000000	0.71417	0.994000	0.49952	0.894000	0.52154	2.077000	0.41557	1.892000	0.54788	0.436000	0.28706	CTC		0.612	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			T	134910562	C	T	134910562	3	4	429	1	0	0	0	0	1	0	0	0	6639	797	28	2	94	2	GPR123	10	134910562	Missense_Mutation	SNP	C	TCGA-BP-5180-01A-01D-1429-08	30505683	134910562	624185	18	23520											
PHRF1	57661	broad.mit.edu;ucsc.edu	37	11	608267	608267	+	Silent	SNP	C	C	A	rs556043379		TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr11:608267C>A	ENST00000264555.5	+	14	2939	c.2811C>A	c.(2809-2811)ccC>ccA	p.P937P	PHRF1_ENST00000413872.2_Silent_p.P935P|PHRF1_ENST00000416188.2_Silent_p.P936P|PHRF1_ENST00000533464.1_Silent_p.P933P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	937					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.P937P(1)|p.P942P(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGCCATCCCCCCCAGAGCCCT	0.692																																																2	Substitution - coding silent(2)	kidney(2)											14	18	17					11																	608267		1937	4082	6019	SO:0001819	synonymous_variant	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2811C>A	11.37:g.608267C>A			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37																																																																																					0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		A	608267	C	A	608267	2	1	429	1	0	0	0	0	0	0	0	1	11863	610	22	4		4	PHRF1	11	608267	Silent	SNP	C	TCGA-BP-5180-01A-01D-1429-08		608267	134398249	19	23521											
CACNA1C	775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2711091	2711091	+	Silent	SNP	G	G	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr12:2711091G>T	ENST00000347598.4	+	23	2985	c.2985G>T	c.(2983-2985)ctG>ctT	p.L995L	CACNA1C_ENST00000399597.1_Silent_p.L975L|CACNA1C_ENST00000399638.1_Silent_p.L975L|CACNA1C_ENST00000480911.1_Silent_p.L975L|CACNA1C_ENST00000399634.1_Silent_p.L975L|CACNA1C_ENST00000399621.1_Silent_p.L975L|CACNA1C_ENST00000399591.1_Silent_p.L975L|CACNA1C_ENST00000399617.1_Silent_p.L975L|CACNA1C_ENST00000399641.1_Silent_p.L975L|CACNA1C_ENST00000399644.1_Silent_p.L975L|CACNA1C_ENST00000335762.5_Silent_p.L1000L|CACNA1C_ENST00000406454.3_Silent_p.L975L|CACNA1C_ENST00000399601.1_Silent_p.L975L|CACNA1C_ENST00000402845.3_Silent_p.L975L|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000344100.3_Silent_p.L975L|CACNA1C_ENST00000399655.1_Silent_p.L975L|CACNA1C_ENST00000399637.1_Silent_p.L975L|CACNA1C_ENST00000327702.7_Silent_p.L975L|CACNA1C_ENST00000399603.1_Silent_p.L975L|CACNA1C_ENST00000399649.1_Silent_p.L975L|CACNA1C_ENST00000399629.1_Silent_p.L975L|CACNA1C_ENST00000399606.1_Silent_p.L995L|CACNA1C_ENST00000399595.1_Silent_p.L975L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	995					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L975L(2)|p.L995L(1)|p.L1025L(1)|p.L510L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGACCTGCTGGTGGTCAGCG	0.572																																																5	Substitution - coding silent(5)	kidney(5)											134	135	134					12																	2711091		2203	4300	6503	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2985G>T	12.37:g.2711091G>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																				0.572	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2711091	G	T	2711091	2	4	429	1	0	0	0	0	0	0	0	1	2542	1335	47	4		4	CACNA1C	12	2711091	Silent	SNP	G	TCGA-BP-5180-01A-01D-1429-08		2711091	131140804	20	23522											
PRH1	11272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	11035696	11035696	+	Splice_Site	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr12:11035696C>T	ENST00000536668.1	-	6	639		c.e6-1		PRH1_ENST00000428168.2_Splice_Site	NR_037918.1		Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)						retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)		p.?(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						TGGCTGACATCTAGAAAAGAA	0.403																																																1	Unknown(1)	kidney(1)											142	141	141					12																	11035696		2203	4300	6503	SO:0001630	splice_region_variant	5554				CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000536668.1:c.917-1G>A	12.37:g.11035696C>T			A8KA69|F5H0D7|Q8NFB3	Splice_Site	SNP	ENST00000536668.1	37		.	.	.	.	.	.	.	.	.	.	C	0.403	-0.917402	0.02396	.	.	ENSG00000231887	ENST00000428168	.	.	.	1.1	0.156	0.14910	.	.	.	.	.	.	.	.	.	.	.	0.21740	N	0.999562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2655	0.06864	0.0:0.6964:0.0:0.3036	.	.	.	.	.	-1	.	.	.	-	.	.	PRH1	10926963	0.042000	0.20092	0.054000	0.19295	0.085000	0.17905	1.090000	0.30902	0.025000	0.15241	0.313000	0.20887	.		0.403	PRR4-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000400050.2	NM_007244	Intron	T	11035696	C	T	11035696	5	4	429	1	0	0	0	0	0	0	1	0	12487	927	32	2	448	2	PRH1	12	11035696	Splice_Site	SNP	C	TCGA-BP-5180-01A-01D-1429-08	8324605	11035696	122816199	21	23523											
ARID2	196528	hgsc.bcm.edu	37	12	46123828	46123828	+	Splice_Site	SNP	T	T	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr12:46123828T>A	ENST00000334344.6	+	2	266	c.94T>A	c.(94-96)Tcg>Acg	p.S32T	ARID2_ENST00000422737.1_5'UTR|LINC00938_ENST00000609803.1_lincRNA	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	32	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S32T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTCCCGCAGGTCGCCTTTTAA	0.657			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	kidney(1)											50	52	51					12																	46123828		2202	4300	6502	SO:0001630	splice_region_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.93-1T>A	12.37:g.46123828T>A			Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	3.016	-0.202778	0.06219	.	.	ENSG00000189079	ENST00000334344	T	0.61980	0.06	2.42	1.0	0.19881	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.53938	U	0.000057	T	0.46639	0.1403	N	0.04260	-0.245	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.52793	-0.8528	10	0.02654	T	1	.	6.8215	0.23859	0.2083:0.0:0.0:0.7917	.	32	Q68CP9	ARID2_HUMAN	T	32	ENSP00000335044:S32T	ENSP00000335044:S32T	S	+	1	0	ARID2	44410095	1.000000	0.71417	0.998000	0.56505	0.511000	0.34104	3.431000	0.52814	0.719000	0.32188	0.156000	0.16432	TCG		0.657	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	Missense_Mutation	A	46123828	T	A	46123828	5	1	429	1	0	0	0	0	0	0	1	0	915	1681	58	5	100	5	ARID2	12	46123828	Splice_Site	SNP	T	TCGA-BP-5180-01A-01D-1429-08	35088132	46123828	87728067	22	23524											
UHRF1BP1L	23074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100433380	100433380	+	Silent	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr12:100433380C>T	ENST00000279907.7	-	20	4481	c.4269G>A	c.(4267-4269)agG>agA	p.R1423R	UHRF1BP1L_ENST00000545232.2_Silent_p.R1073R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1423								p.R1423R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTACCTGTTCCCTAGTGAAGT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											96	84	88					12																	100433380		2203	4300	6503	SO:0001819	synonymous_variant	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4269G>A	12.37:g.100433380C>T			A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	6.616	0.482028	0.12581	.	.	ENSG00000111647	ENST00000548712	.	.	.	4.77	1.11	0.20524	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.48762	D	0.999701	.	.	.	.	.	.	T	0.42548	-0.9445	4	.	.	.	-4.3062	6.3354	0.21292	0.0:0.5837:0.0:0.4163	.	.	.	.	E	184	.	.	G	-	2	0	UHRF1BP1L	98957511	0.002000	0.14202	0.631000	0.29282	0.845000	0.48019	-1.024000	0.03603	0.242000	0.21303	0.650000	0.86243	GGG		0.388	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		T	100433380	C	T	100433380	2	4	429	1	0	0	0	0	0	0	0	1	16974	622	22	2		2	UHRF1BP1L	12	100433380	Silent	SNP	C	TCGA-BP-5180-01A-01D-1429-08	54309552	100433380	33418515	23	23525											
SKA3	221150	hgsc.bcm.edu	37	13	21746645	21746645	+	Splice_Site	SNP	T	T	G			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr13:21746645T>G	ENST00000314759.5	-	3	290		c.e3-2		SKA3_ENST00000400018.3_Splice_Site	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AACATCATCCTTTTATGAATA	0.249																																																0													29	30	30					13																	21746645		2171	4267	6438	SO:0001630	splice_region_variant	221150			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.166-2A>C	13.37:g.21746645T>G			A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Splice_Site	SNP	ENST00000314759.5	37	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108029	0.37242	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	.	.	.	5.61	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1546	0.36985	0.0:0.0834:0.0:0.9166	.	.	.	.	.	-1	.	.	.	-	.	.	SKA3	20644645	1.000000	0.71417	0.937000	0.37676	0.674000	0.39518	4.313000	0.59160	0.961000	0.38030	0.482000	0.46254	.		0.249	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061	Intron	G	21746645	T	G	21746645	5	3	429	1	0	0	0	0	0	0	1	0	14360	1623	56	5	1149	5	SKA3	13	21746645	Splice_Site	SNP	T	TCGA-BP-5180-01A-01D-1429-08		21746645	93423233	24	23526											
KIAA0564	23078	hgsc.bcm.edu;ucsc.edu	37	13	42461418	42461428	+	Frame_Shift_Del	DEL	GGCAAGCCCAA	GGCAAGCCCAA	-			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	GGCAAGCCCAA	GGCAAGCCCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr13:42461418_42461428delGGCAAGCCCAA	ENST00000379310.3	-	6	789_799	c.721_731delTTGGGCTTGCC	c.(721-732)ttgggcttgccafs	p.LGLP241fs	VWA8_ENST00000281496.6_Frame_Shift_Del_p.LGLP241fs	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	241						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CCTTGGCACTGGCAAGCCCAAGGCAATCACT	0.417																																																0																																										SO:0001589	frameshift_variant	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.721_731delTTGGGCTTGCC	13.37:g.42461418_42461428delGGCAAGCCCAA	ENSP00000368612:p.Leu241fs		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Frame_Shift_Del	DEL	ENST00000379310.3	37	CCDS41881.1																																																																																				0.417	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		-	42461428	GGCAAGCCCAA	-	42461418	7	5	429	1	0	1	0	1	0	0	0	0	8187	1348	47	0	5150	0	KIAA0564	13	42461418	Frame_Shift_Del	DEL	GGCAAGCCCAA	TCGA-BP-5180-01A-01D-1429-08	20714773	42461418	72708460	25	23527											
IPO4	79711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24655987	24655987	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr14:24655987T>G	ENST00000354464.6	-	9	943	c.767A>C	c.(766-768)aAt>aCt	p.N256T	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	256					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.N256T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGGGCCACATTTCTAGCTAC	0.512																																																1	Substitution - Missense(1)	kidney(1)											89	92	91					14																	24655987		2050	4209	6259	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.767A>C	14.37:g.24655987T>G	ENSP00000346453:p.Asn256Thr		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	T	8.981	0.975388	0.18736	.	.	ENSG00000196497	ENST00000354464	T	0.05717	3.4	4.96	3.74	0.42951	Armadillo-like helical (1);Armadillo-type fold (1);	0.122836	0.53938	D	0.000049	T	0.04543	0.0124	N	0.19112	0.55	0.36731	D	0.881709	P	0.41232	0.743	B	0.37833	0.259	T	0.52434	-0.8576	10	0.31617	T	0.26	-23.6676	11.4961	0.50408	0.0:0.0:0.1492:0.8507	.	256	Q8TEX9	IPO4_HUMAN	T	256	ENSP00000346453:N256T	ENSP00000346453:N256T	N	-	2	0	IPO4	23725827	0.994000	0.37717	0.105000	0.21289	0.177000	0.22998	4.388000	0.59633	2.207000	0.71202	0.533000	0.62120	AAT		0.512	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		G	24655987	T	G	24655987	3	3	429	1	0	0	0	0	1	0	0	0	7797	1493	52	5	2566	5	IPO4	14	24655987	Missense_Mutation	SNP	T	TCGA-BP-5180-01A-01D-1429-08		24655987	82693553	26	23528											
RASGRF1	5923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	79356851	79356851	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr15:79356851G>T	ENST00000419573.3	-	2	568	c.294C>A	c.(292-294)aaC>aaA	p.N98K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.N98K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	98	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N98K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATGGCTGAAGTTCACCGTGA	0.478																																																1	Substitution - Missense(1)	kidney(1)											290	236	254					15																	79356851		2196	4293	6489	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.294C>A	15.37:g.79356851G>T	ENSP00000405963:p.Asn98Lys		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602756	0.46423	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.41065	1.01	4.95	4.95	0.65309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.255252	0.40064	N	0.001183	T	0.35480	0.0933	N	0.25380	0.74	0.80722	D	1	B;B;B;B	0.23990	0.095;0.095;0.095;0.032	B;B;B;B	0.33121	0.102;0.158;0.102;0.062	T	0.12502	-1.0545	10	0.31617	T	0.26	.	15.7119	0.77635	0.0:0.0:1.0:0.0	.	98;98;98;98	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	K	98	ENSP00000405963:N98K	ENSP00000378224:N98K	N	-	3	2	RASGRF1	77143906	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.690000	0.37711	2.564000	0.86499	0.561000	0.74099	AAC		0.478	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		T	79356851	G	T	79356851	3	4	429	1	0	0	0	0	1	0	0	0	13078	1020	36	4	3635	4	RASGRF1	15	79356851	Missense_Mutation	SNP	G	TCGA-BP-5180-01A-01D-1429-08		79356851	23174541	27	23529											
AP3S2	10239	broad.mit.edu;ucsc.edu	37	15	90431758	90431758	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr15:90431758T>C	ENST00000336418.4	-	3	660	c.268A>G	c.(268-270)Atc>Gtc	p.I90V	AP3S2_ENST00000560940.1_Missense_Mutation_p.I90V|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.I291V|RNU6-1111P_ENST00000391118.1_RNA|AP3S2_ENST00000558011.1_Missense_Mutation_p.I90V|C15orf38-AP3S2_ENST00000560224.1_5'UTR	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	90					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)	p.I90V(1)		NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CATACCTGGATGAGGTCCAAG	0.453																																																1	Substitution - Missense(1)	kidney(1)											78	73	75					15																	90431758		2200	4299	6499	SO:0001583	missense	10239			X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.268A>G	15.37:g.90431758T>C	ENSP00000338777:p.Ile90Val		B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP	ENST00000336418.4	37	CCDS10357.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913510	0.92178	.	.	ENSG00000157823;ENSG00000157823;ENSG00000250021	ENST00000336418;ENST00000423566;ENST00000398333	T;T	0.62232	0.21;0.04	5.56	5.56	0.83823	Longin-like (1);AP complex, mu/sigma subunit (1);	0.059292	0.64402	D	0.000004	T	0.77226	0.4099	M	0.86864	2.845	0.33567	D	0.598148	P;P	0.39551	0.587;0.678	P;P	0.51833	0.45;0.681	D	0.85319	0.1083	10	0.51188	T	0.08	-12.3885	13.6945	0.62569	0.0:0.0:0.0:1.0	.	291;90	E2QRD5;P59780	.;AP3S2_HUMAN	V	90;90;291	ENSP00000338777:I90V;ENSP00000381377:I291V	ENSP00000338777:I90V	I	-	1	0	C15orf38-AP3S2;AP3S2	88232762	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.435000	0.80391	2.330000	0.79161	0.533000	0.62120	ATC		0.453	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1			C	90431758	T	C	90431758	3	2	429	1	0	0	0	0	1	0	0	0	750	1464	51	3	329	3	AP3S2	15	90431758	Missense_Mutation	SNP	T	TCGA-BP-5180-01A-01D-1429-08	11074907	90431758	12099634	28	23530											
HOXB3	3213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46628008	46628008	+	Silent	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr17:46628008C>T	ENST00000470495.1	-	2	2431	c.984G>A	c.(982-984)gaG>gaA	p.E328E	HOXB3_ENST00000485909.2_Silent_p.E196E|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Silent_p.E328E|HOXB3_ENST00000472863.1_Silent_p.E255E|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Silent_p.E255E|HOXB3_ENST00000490677.1_Silent_p.E194E|HOXB3_ENST00000476342.1_Silent_p.E328E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Silent_p.E328E|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.E196E			P14651	HXB3_HUMAN	homeobox B3	328					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E328E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCGGCTCATACTCGGGCGCCG	0.701											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											23	31	28					17																	46628008		2197	4292	6489	SO:0001819	synonymous_variant	3213				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.984G>A	17.37:g.46628008C>T		940	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	CCDS11528.1																																																																																				0.701	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			T	46628008	C	T	46628008	2	4	429	1	0	0	0	0	0	0	0	1	7304	564	20	2		2	HOXB3	17	46628008	Silent	SNP	C	TCGA-BP-5180-01A-01D-1429-08		46628008	34567202	29	23531											
ADAMTSL5	339366	broad.mit.edu	37	19	1508092	1508092	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:1508092C>G	ENST00000413997.2	-	7	535	c.536G>C	c.(535-537)gGg>gCg	p.G179A	CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.G169A|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_5'UTR			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	179						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G169A(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCAACAACCCATCACAGCC	0.672																																																1	Substitution - Missense(1)	kidney(1)											25	22	23					19																	1508092		2196	4295	6491	SO:0001583	missense	339366			BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"thrombospondin, type I, domain containing 6"	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.536G>C	19.37:g.1508092C>G	ENSP00000399364:p.Gly179Ala		B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37		.	.	.	.	.	.	.	.	.	.	C	10.72	1.430161	0.25726	.	.	ENSG00000185761	ENST00000413997;ENST00000330475	T;T	0.62364	0.03;0.03	4.76	3.73	0.42828	.	0.419372	0.24866	N	0.034961	T	0.57227	0.2039	M	0.82716	2.605	0.80722	D	1	B;P	0.36330	0.405;0.548	B;B	0.30401	0.073;0.115	T	0.54997	-0.8209	10	0.11182	T	0.66	.	10.5057	0.44832	0.0:0.9029:0.0:0.0971	.	179;169	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	A	179;169	ENSP00000399364:G179A;ENSP00000327608:G169A	ENSP00000327608:G169A	G	-	2	0	ADAMTSL5	1459092	0.968000	0.33430	0.971000	0.41717	0.608000	0.37181	2.336000	0.43938	0.993000	0.38866	0.455000	0.32223	GGG		0.672	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		G	1508092	C	G	1508092	3	3	429	1	0	0	0	0	1	0	0	0	278	623	22	4	933	4	ADAMTSL5	19	1508092	Missense_Mutation	SNP	C	TCGA-BP-5180-01A-01D-1429-08		1508092	57620891	30	23532											
ZNF77	58492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2933730	2933730	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:2933730T>A	ENST00000314531.4	-	4	1487	c.1395A>T	c.(1393-1395)gaA>gaT	p.E465D		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E465D(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTGATTACATTCGTACGGTT	0.498																																																1	Substitution - Missense(1)	kidney(1)											121	114	116					19																	2933730		2203	4300	6503	SO:0001583	missense	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1395A>T	19.37:g.2933730T>A	ENSP00000319053:p.Glu465Asp		Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025176	0.35701	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.22134	1.97	2.55	-1.23	0.09465	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18718	0.0449	L	0.31157	0.91	0.09310	N	1	D	0.56287	0.975	P	0.51918	0.684	T	0.12837	-1.0532	9	0.66056	D	0.02	.	3.5988	0.08016	0.0:0.2533:0.1974:0.5493	.	465	Q15935	ZNF77_HUMAN	D	259;465	ENSP00000319053:E465D	ENSP00000319053:E465D	E	-	3	2	ZNF77	2884730	0.000000	0.05858	0.000000	0.03702	0.380000	0.30137	-3.670000	0.00398	-0.557000	0.06126	0.397000	0.26171	GAA		0.498	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		A	2933730	T	A	2933730	3	1	429	1	0	0	0	0	1	0	0	0	18147	1490	52	5	246	5	ZNF77	19	2933730	Missense_Mutation	SNP	T	TCGA-BP-5180-01A-01D-1429-08	1425638	2933730	56195253	31	23533											
TLE6	79816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2987728	2987728	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:2987728G>A	ENST00000246112.4	+	9	766	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	TLE6_ENST00000452088.1_Missense_Mutation_p.E66K|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	189					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.E66K(1)|p.E189K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGGCAGGAAAGCAAGGC	0.597																																																2	Substitution - Missense(2)	kidney(2)											81	79	80					19																	2987728		2203	4300	6503	SO:0001583	missense	79816			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.565G>A	19.37:g.2987728G>A	ENSP00000246112:p.Glu189Lys		J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951253	0.53186	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.18338	2.22;2.27	2.89	1.82	0.25136	.	.	.	.	.	T	0.20618	0.0496	L	0.27053	0.805	0.09310	N	1	D;D;D	0.64830	0.994;0.974;0.994	P;P;P	0.60886	0.88;0.74;0.841	T	0.14952	-1.0454	9	0.27082	T	0.32	-13.8431	7.8485	0.29440	0.0:0.257:0.743:0.0	.	189;66;66	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	K	189;189;66;66	ENSP00000246112:E189K;ENSP00000406893:E66K	ENSP00000246112:E189K	E	+	1	0	TLE6	2938728	0.145000	0.22656	0.205000	0.23548	0.098000	0.18820	0.896000	0.28377	0.771000	0.33359	0.555000	0.69702	GAA		0.597	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		A	2987728	G	A	2987728	3	1	429	1	0	0	0	0	1	0	0	0	15947	1175	41	2	595	2	TLE6	19	2987728	Missense_Mutation	SNP	G	TCGA-BP-5180-01A-01D-1429-08	53998	2987728	56141255	32	23534											
MYO9B	4650	broad.mit.edu	37	19	17306197	17306197	+	Missense_Mutation	SNP	G	G	A	rs374157748		TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:17306197G>A	ENST00000594824.1	+	22	4108	c.3961G>A	c.(3961-3963)Gcc>Acc	p.A1321T	MYO9B_ENST00000397274.2_Missense_Mutation_p.A1321T|MYO9B_ENST00000595618.1_Missense_Mutation_p.A1321T			Q13459	MYO9B_HUMAN	myosin IXB	1321	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A1321T(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCTGGTGGCCGCCGCCAGCCC	0.716																																																2	Substitution - Missense(2)	kidney(2)						G	THR/ALA,THR/ALA	0,3848		0,0,1924	8	12	11		3961,3961	-2.7	0	19		11	1,8105		0,1,4052	no	missense,missense	MYO9B	NM_001130065.1,NM_004145.3	58,58	0,1,5976	AA,AG,GG		0.0123,0.0,0.0084	benign,benign	1321/2023,1321/2158	17306197	1,11953	1924	4053	5977	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3961G>A	19.37:g.17306197G>A	ENSP00000471367:p.Ala1321Thr		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	G	9.505	1.104290	0.20632	0.0	1.23E-4	ENSG00000099331	ENST00000397274	D	0.84298	-1.83	4.8	-2.7	0.06004	.	0.917773	0.09081	N	0.851247	T	0.67107	0.2858	N	0.10809	0.05	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.06405	0.002;0.002;0.002	T	0.50651	-0.8803	10	0.13470	T	0.59	.	9.8074	0.40801	0.4528:0.0:0.5472:0.0	.	1321;1321;1327	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	T	1321	ENSP00000380444:A1321T	ENSP00000380444:A1321T	A	+	1	0	MYO9B	17167197	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.721000	0.04963	-0.725000	0.04901	-1.449000	0.01048	GCC		0.716	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			A	17306197	G	A	17306197	3	1	429	1	0	0	0	0	1	0	0	0	10087	1087	38	1	4043	1	MYO9B	19	17306197	Missense_Mutation	SNP	G	TCGA-BP-5180-01A-01D-1429-08	14318469	17306197	41822786	33	23535											
ANO8	57719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17439020	17439020	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:17439020G>C	ENST00000159087.4	-	13	2335	c.2177C>G	c.(2176-2178)tCg>tGg	p.S726W		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	726					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.S726W(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GAGCTGGGGCGAGTGTTCCTC	0.697																																																1	Substitution - Missense(1)	kidney(1)											20	23	22					19																	17439020		2199	4299	6498	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2177C>G	19.37:g.17439020G>C	ENSP00000159087:p.Ser726Trp		A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	6.323	0.427604	0.11987	.	.	ENSG00000074855	ENST00000159087	T	0.65549	-0.16	5.04	4.0	0.46444	.	0.575183	0.18228	N	0.147669	T	0.75064	0.3799	M	0.66939	2.045	0.09310	N	0.999998	D	0.89917	1.0	D	0.74348	0.983	T	0.65717	-0.6100	10	0.72032	D	0.01	.	11.1987	0.48728	0.0908:0.0:0.9092:0.0	.	726	Q9HCE9	ANO8_HUMAN	W	726	ENSP00000159087:S726W	ENSP00000159087:S726W	S	-	2	0	ANO8	17300020	0.999000	0.42202	0.049000	0.19019	0.033000	0.12548	3.526000	0.53509	1.137000	0.42214	0.491000	0.48974	TCG		0.697	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		C	17439020	G	C	17439020	3	2	429	1	0	0	0	0	1	0	0	0	703	1059	37	4	1545	4	ANO8	19	17439020	Missense_Mutation	SNP	G	TCGA-BP-5180-01A-01D-1429-08	132823	17439020	41689963	34	23536											
SYT3	84258	broad.mit.edu;hgsc.bcm.edu	37	19	51135742	51135742	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:51135742G>T	ENST00000338916.4	-	2	1108	c.475C>A	c.(475-477)Ccc>Acc	p.P159T	SYT3_ENST00000544769.1_Missense_Mutation_p.P159T|SYT3_ENST00000600079.1_Missense_Mutation_p.P159T|SYT3_ENST00000593901.1_Missense_Mutation_p.P159T	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	159					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.P159T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AAGTAGGAGGGCTCAGGGGTG	0.652																																																1	Substitution - Missense(1)	kidney(1)											24	24	24					19																	51135742		2202	4299	6501	SO:0001583	missense	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.475C>A	19.37:g.51135742G>T	ENSP00000340914:p.Pro159Thr		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247180	0.59103	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.58358	0.34;0.34	4.59	4.59	0.56863	.	0.094029	0.42682	U	0.000676	T	0.29355	0.0731	N	0.14661	0.345	0.42109	D	0.991379	P	0.43477	0.808	B	0.33295	0.161	T	0.11542	-1.0583	10	0.23302	T	0.38	.	12.3749	0.55275	0.0:0.0:0.8306:0.1694	.	159	Q9BQG1	SYT3_HUMAN	T	159	ENSP00000340914:P159T;ENSP00000438883:P159T	ENSP00000340914:P159T	P	-	1	0	SYT3	55827554	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	5.415000	0.66411	2.536000	0.85505	0.563000	0.77884	CCC		0.652	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		T	51135742	G	T	51135742	3	4	429	1	0	0	0	0	1	0	0	0	15480	1203	42	4	1325	4	SYT3	19	51135742	Missense_Mutation	SNP	G	TCGA-BP-5180-01A-01D-1429-08	33696722	51135742	7993241	35	23537											
LIPI	149998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	15561671	15561671	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr21:15561671G>A	ENST00000536861.1	-	2	115	c.116C>T	c.(115-117)cCg>cTg	p.P39L	LIPI_ENST00000344577.2_Missense_Mutation_p.P60L			Q6XZB0	LIPI_HUMAN	lipase, member I	39					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.P60L(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTCTATTCTCGGAATAAATAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											93	95	94					21																	15561671		2203	4300	6503	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.116C>T	21.37:g.15561671G>A	ENSP00000440381:p.Pro39Leu		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	G	12.54	1.968873	0.34754	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.90324	-2.65;-2.65	5.3	4.39	0.52855	.	0.791124	0.10628	N	0.652514	D	0.92691	0.7677	M	0.73319	2.225	0.09310	N	1	D	0.54601	0.967	P	0.50860	0.652	D	0.84868	0.0823	10	0.45353	T	0.12	.	15.0753	0.72071	0.0:0.0:0.8568:0.1432	.	60	Q6XZB0-2	.	L	60;39	ENSP00000343331:P60L;ENSP00000440381:P39L	ENSP00000343331:P60L	P	-	2	0	LIPI	14483542	0.998000	0.40836	0.038000	0.18304	0.234000	0.25298	5.490000	0.66881	1.329000	0.45376	0.655000	0.94253	CCG		0.343	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		A	15561671	G	A	15561671	3	1	429	1	0	0	0	0	1	0	0	0	8827	1116	39	1	1302	1	LIPI	21	15561671	Missense_Mutation	SNP	G	TCGA-BP-5180-01A-01D-1429-08		15561671	32568224	36	23538											
CLIC6	54102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	36081739	36081739	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr21:36081739G>C	ENST00000360731.3	+	6	1856	c.1856G>C	c.(1855-1857)aGc>aCc	p.S619T	CLIC6_ENST00000349499.2_Missense_Mutation_p.S601T			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	619	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.S601T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GATGCCTACAGCACCGAGGAT	0.468																																																1	Substitution - Missense(1)	kidney(1)											116	107	110					21																	36081739		2203	4300	6503	SO:0001583	missense	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1856G>C	21.37:g.36081739G>C	ENSP00000353959:p.Ser619Thr		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		.	.	.	.	.	.	.	.	.	.	G	14.15	2.448129	0.43429	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.93906	-3.31;-3.31	6.17	6.17	0.99709	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.146348	0.64402	D	0.000012	D	0.96002	0.8698	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68483	0.937;0.958	D	0.94526	0.7731	10	0.41790	T	0.15	-1.401	20.8794	0.99867	0.0:0.0:1.0:0.0	.	619;601	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	T	619;601	ENSP00000353959:S619T;ENSP00000290332:S601T	ENSP00000290332:S601T	S	+	2	0	CLIC6	35003609	1.000000	0.71417	0.905000	0.35620	0.311000	0.27955	4.078000	0.57606	2.941000	0.99782	0.655000	0.94253	AGC		0.468	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			C	36081739	G	C	36081739	3	2	429	1	0	0	0	0	1	0	0	0	3532	971	34	4	1820	4	CLIC6	21	36081739	Missense_Mutation	SNP	G	TCGA-BP-5180-01A-01D-1429-08	20520068	36081739	12048156	37	23539											
OSBP2	23762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	31266569	31266569	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr22:31266569A>G	ENST00000332585.6	+	3	1111	c.1007A>G	c.(1006-1008)gAg>gGg	p.E336G	OSBP2_ENST00000403222.3_Missense_Mutation_p.E171G|OSBP2_ENST00000446658.2_Missense_Mutation_p.E336G|OSBP2_ENST00000382310.3_Missense_Mutation_p.E336G|OSBP2_ENST00000407373.1_Missense_Mutation_p.E163G|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000437268.2_Missense_Mutation_p.E78G	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	336					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.E336G(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TCCCTGACAGAGCTGGACGGC	0.562																																																1	Substitution - Missense(1)	kidney(1)											56	64	61					22																	31266569		2144	4239	6383	SO:0001583	missense	23762				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1007A>G	22.37:g.31266569A>G	ENSP00000332576:p.Glu336Gly		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.143697	0.77888	.	.	ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000437268	T;T;T;T;T;T	0.55234	0.72;0.73;1.31;1.2;1.31;0.53	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.991;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.76071	0.987;0.914;0.971;0.971;0.987;0.979	T	0.74780	-0.3549	10	0.40728	T	0.16	-17.0798	13.6784	0.62469	1.0:0.0:0.0:0.0	.	78;336;171;163;336;336	F5H2A3;B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;.;OSBP2_HUMAN	G	171;163;336;336;336;78	ENSP00000384213:E171G;ENSP00000385237:E163G;ENSP00000332576:E336G;ENSP00000371747:E336G;ENSP00000392080:E336G;ENSP00000389200:E78G	ENSP00000332576:E336G	E	+	2	0	OSBP2	29596569	1.000000	0.71417	0.986000	0.45419	0.607000	0.37147	8.933000	0.92911	1.905000	0.55150	0.460000	0.39030	GAG		0.562	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		G	31266569	A	G	31266569	3	3	429	1	0	0	0	0	1	0	0	0	11276	304	11	3	1017	3	OSBP2	22	31266569	Missense_Mutation	SNP	A	TCGA-BP-5180-01A-01D-1429-08		31266569	20037997	38	23540											
ARSD	414	hgsc.bcm.edu	37	X	2835999	2836007	+	In_Frame_Del	DEL	CCACGCCGG	CCACGCCGG	-	rs113556864|rs190767292		TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	CCACGCCGG	CCACGCCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chrX:2835999_2836007delCCACGCCGG	ENST00000381154.1	-	5	776_784	c.701_709delCCGGCGTGG	c.(700-711)gccggcgtgggc>ggc	p.AGV234del	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	234					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AACAGGCAGCCCACGCCGGCCATGCCGGT	0.593																																																0										451,3270		0,2,449,1590,88						-6.3	0		dbSNP_132	32	1416,5068		2,4,1408,2351,362	no	coding	ARSD	NM_001669.3		2,6,1857,3941,450	A1A1,A1R,A1,RR,R		21.8384,12.1204,18.295				1867,8338				SO:0001651	inframe_deletion	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.701_709delCCGGCGTGG	X.37:g.2835999_2836007delCCACGCCGG	ENSP00000370546:p.Ala234_Val236del		Q9UHJ8	In_Frame_Del	DEL	ENST00000381154.1	37	CCDS35196.1																																																																																				0.593	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			-	2836007	CCACGCCGG	-	2835999	7	5	429	1	0	1	0	1	0	0	0	0	989	623	22	0	1249	0	ARSD	23	2835999	In_Frame_Del	DEL	CCACGCCGG	TCGA-BP-5180-01A-01D-1429-08		2835999	152434561	39	23541											
RAP1GAP	5909	broad.mit.edu	37	1	21936673	21936673	+	Silent	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:21936673G>A	ENST00000374765.4	-	14	1139	c.939C>T	c.(937-939)ttC>ttT	p.F313F	RAP1GAP_ENST00000374761.2_Silent_p.F344F|RAP1GAP_ENST00000374763.2_Silent_p.F313F|RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000542643.2_Silent_p.F313F|RAP1GAP_ENST00000290101.4_Silent_p.F377F	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	313	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGGCATGCAGGAAGTTGGACG	0.632																																																0													95	72	80					1																	21936673		2203	4300	6503	SO:0001819	synonymous_variant	5909			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.939C>T	1.37:g.21936673G>A			J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	CCDS218.1																																																																																				0.632	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		A	21936673	G	A	21936673	2	1	430	1	0	0	0	0	0	0	0	1	13043	1165	41	2		2	RAP1GAP	1	21936673	Silent	SNP	G	TCGA-BP-5181-01A-01D-1429-08		21936673	227313948	1	23542			1	38		2	2	16	N	G_C	3.440226e-05
RAP1GAP	5909	broad.mit.edu	37	1	21936688	21936688	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:21936688C>T	ENST00000374765.4	-	14	1124	c.924G>A	c.(922-924)atG>atA	p.M308I	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.M339I|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.M308I|RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.M308I|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.M372I	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	308	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGACGCGATCATGTCGGGCA	0.632																																																0													108	83	91					1																	21936688		2203	4300	6503	SO:0001583	missense	5909			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.924G>A	1.37:g.21936688C>T	ENSP00000363897:p.Met308Ile		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	CCDS218.1	.	.	.	.	.	.	.	.	.	.	C	35	5.557941	0.96514	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	5.36	5.36	0.76844	Rap/ran-GAP (2);	0.041485	0.85682	D	0.000000	D	0.94042	0.8091	L	0.45137	1.4	0.80722	D	1	B;D;B;B	0.63046	0.005;0.992;0.011;0.01	B;P;B;B	0.56563	0.006;0.801;0.035;0.016	D	0.94549	0.7752	10	0.87932	D	0	-29.0809	16.9622	0.86275	0.0:1.0:0.0:0.0	.	308;308;338;308	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	I	372;339;308;308;338;308	ENSP00000290101:M372I;ENSP00000363893:M339I;ENSP00000441661:M308I;ENSP00000363897:M308I	ENSP00000290101:M372I	M	-	3	0	RAP1GAP	21809275	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	7.731000	0.84895	2.688000	0.91661	0.561000	0.74099	ATG		0.632	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		T	21936688	C	T	21936688	3	4	430	1	0	0	0	0	1	0	0	0	13043	826	29	2	1193	2	RAP1GAP	1	21936688	Missense_Mutation	SNP	C	TCGA-BP-5181-01A-01D-1429-08	15	21936688	227313933	2	23543			1	38		2	2	16	N	G_C	3.440226e-05
CCDC21	64793	broad.mit.edu	37	1	26584685	26584685	+	Silent	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:26584685G>A	ENST00000252992.4	+	6	1220	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	CEP85_ENST00000451429.2_Silent_p.L312L	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	363						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AGAGCGAACTGCAAGTCCACA	0.557																																																0													129	115	120					1																	26584685		2203	4300	6503	SO:0001819	synonymous_variant	64793			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1089G>A	1.37:g.26584685G>A			B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Silent	SNP	ENST00000252992.4	37	CCDS277.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.327071	0.24080	.	.	ENSG00000130695	ENST00000453146	.	.	.	6.04	-9.8	0.00490	.	.	.	.	.	T	0.43656	0.1257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52335	-0.8589	4	.	.	.	-4.3278	6.5728	0.22549	0.2034:0.0862:0.526:0.1845	.	.	.	.	Y	37	.	.	C	+	2	0	CEP85	26457272	0.992000	0.36948	0.857000	0.33713	0.900000	0.52787	0.323000	0.19593	-1.305000	0.02327	-0.471000	0.05019	TGC		0.557	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		A	26584685	G	A	26584685	2	1	430	1	0	0	0	0	0	0	0	1	2798	1306	46	2		2	CCDC21	1	26584685	Silent	SNP	G	TCGA-BP-5181-01A-01D-1429-08	4647997	26584685	222665936	3	23544											
DMRTB1	63948	broad.mit.edu	37	1	53925249	53925249	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:53925249C>T	ENST00000371445.3	+	1	178	c.123C>T	c.(121-123)taC>taT	p.Y41Y		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	41					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGAAGTGCTACCTGATCTCCG	0.657																																																0													22	21	21					1																	53925249		2203	4300	6503	SO:0001819	synonymous_variant	63948			AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.123C>T	1.37:g.53925249C>T			Q96SD2	Silent	SNP	ENST00000371445.3	37	CCDS581.1																																																																																				0.657	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			T	53925249	C	T	53925249	2	4	430	1	0	0	0	0	0	0	0	1	4592	518	18	2		2	DMRTB1	1	53925249	Silent	SNP	C	TCGA-BP-5181-01A-01D-1429-08	27340564	53925249	195325372	4	23545											
NTNG1	22854	broad.mit.edu	37	1	107691260	107691260	+	Silent	SNP	G	G	A	rs201986277		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:107691260G>A	ENST00000370068.1	+	2	891	c.45G>A	c.(43-45)acG>acA	p.T15T	NTNG1_ENST00000370067.1_Silent_p.T15T|NTNG1_ENST00000370073.2_Silent_p.T15T|NTNG1_ENST00000370070.2_Silent_p.T15T|NTNG1_ENST00000542803.1_Silent_p.T15T|NTNG1_ENST00000370066.1_Silent_p.T15T|NTNG1_ENST00000370071.2_Silent_p.T15T|NTNG1_ENST00000370072.3_Silent_p.T15T|NTNG1_ENST00000370061.3_Silent_p.T15T|NTNG1_ENST00000370065.1_Silent_p.T15T|NTNG1_ENST00000370074.4_Silent_p.T15T			Q9Y2I2	NTNG1_HUMAN	netrin G1	15					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTTGGGTTACGGTGTCCTCAG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19913	0.0		0.001	False		,,,				2504	0.0															0													211	190	197					1																	107691260		2203	4300	6503	SO:0001819	synonymous_variant	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.45G>A	1.37:g.107691260G>A			Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	CCDS44180.1																																																																																				0.413	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		A	107691260	G	A	107691260	2	1	430	1	0	0	0	0	0	0	0	1	10706	1103	39	1		1	NTNG1	1	107691260	Silent	SNP	G	TCGA-BP-5181-01A-01D-1429-08	53766011	107691260	141559361	5	23546											
SEMA6C	10500	broad.mit.edu	37	1	151105972	151105972	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:151105972G>C	ENST00000341697.3	-	19	3472	c.1781C>G	c.(1780-1782)cCa>cGa	p.P594R	RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	594					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCCGAGGCTGGGGGCAGGTC	0.721																																																0													10	11	11					1																	151105972		2131	4164	6295	SO:0001583	missense	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1781C>G	1.37:g.151105972G>C	ENSP00000344148:p.Pro594Arg		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	8.085	0.773288	0.16051	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.4	2.31	0.28768	.	1.669820	0.04155	U	0.321972	T	0.20333	0.0489	N	0.24115	0.695	0.09310	N	1	B;B;B	0.30361	0.277;0.062;0.181	B;B;B	0.32465	0.146;0.085;0.069	T	0.25257	-1.0137	10	0.16420	T	0.52	.	11.2825	0.49203	0.0:0.0:0.6766:0.3234	.	586;626;594	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	R	594;586;626;594	ENSP00000357910:P594R;ENSP00000357908:P586R;ENSP00000357909:P626R;ENSP00000344148:P594R	ENSP00000344148:P594R	P	-	2	0	SEMA6C	149372596	0.882000	0.30256	0.204000	0.23530	0.758000	0.43043	2.209000	0.42806	0.929000	0.37192	0.561000	0.74099	CCA		0.721	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		C	151105972	G	C	151105972	3	2	430	1	0	0	0	0	1	0	0	0	14047	1348	47	4	1015	4	SEMA6C	1	151105972	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08	43414712	151105972	98144649	6	23547											
NID1	4811	broad.mit.edu	37	1	236195855	236195856	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:236195855_236195856insT	ENST00000264187.6	-	6	1464_1465	c.1382_1383insA	c.(1381-1383)tacfs	p.Y461fs	NID1_ENST00000366595.3_Frame_Shift_Ins_p.Y461fs	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	461	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TCATTACTACGTAAGAGTGGAG	0.545																																																0																																										SO:0001589	frameshift_variant	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1383dupA	1.37:g.236195856_236195856dupT	ENSP00000264187:p.Tyr461fs		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Frame_Shift_Ins	INS	ENST00000264187.6	37	CCDS1608.1																																																																																				0.545	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		T	236195856	-	T	236195855	7	5	430	1	0	1	1	0	0	0	0	0	10416	1140	40	0	2420	0	NID1	1	236195855	Frame_Shift_Ins	INS	-	TCGA-BP-5181-01A-01D-1429-08	85089883	236195855	13054766	7	23548											
HNRNPU	3192	broad.mit.edu	37	1	245021386	245021386	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr1:245021386G>C	ENST00000283179.9	-	7	1584	c.1421C>G	c.(1420-1422)aCt>aGt	p.T474S	HNRNPU_ENST00000444376.2_Missense_Mutation_p.T455S|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	474					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTGGATGAAAGTATACTCTTC	0.418																																					NSCLC(33;911 1010 3329 23631 49995)											0													71	69	70					1																	245021386		2203	4300	6503	SO:0001583	missense	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1421C>G	1.37:g.245021386G>C	ENSP00000283179:p.Thr474Ser		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422547	0.62622	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.49139	0.79;0.8	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	L	0.43923	1.385	0.80722	D	1	D;B;P;D	0.63880	0.993;0.328;0.589;0.982	D;B;B;D	0.67548	0.935;0.316;0.298;0.952	T	0.50575	-0.8812	10	0.25751	T	0.34	-10.7236	20.5752	0.99366	0.0:0.0:1.0:0.0	.	399;455;474;198	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	S	455;474;399	ENSP00000393151:T455S;ENSP00000283179:T474S	ENSP00000283179:T474S	T	-	2	0	HNRNPU	243088009	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	5.717000	0.68446	2.868000	0.98415	0.557000	0.71058	ACT		0.418	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		C	245021386	G	C	245021386	3	2	430	1	0	0	0	0	1	0	0	0	7275	1029	36	4	1088	4	HNRNPU	1	245021386	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08	8825531	245021386	4229235	8	23549											
DNMT3A	1788	broad.mit.edu	37	2	25470606	25470606	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:25470606A>T	ENST00000264709.3	-	8	1205	c.868T>A	c.(868-870)Ttt>Att	p.F290I	DNMT3A_ENST00000380746.4_Missense_Mutation_p.F101I|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F290I|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F67I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	290	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAATGCCAAAGCCCCGGCCG	0.652			"Mis, F, N, S"		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													44	46	46					2																	25470606		2203	4300	6503	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.868T>A	2.37:g.25470606A>T	ENSP00000264709:p.Phe290Ile		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026845	0.75390	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	4.97	4.97	0.65823	PWWP (2);	0.000000	0.85682	D	0.000000	T	0.81626	0.4862	M	0.83603	2.65	0.80722	D	1	D;P	0.60575	0.988;0.922	P;P	0.57057	0.812;0.596	D	0.84890	0.0836	10	0.72032	D	0.01	-3.1685	13.6031	0.62031	1.0:0.0:0.0:0.0	.	290;101	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	I	101;290;290;67	ENSP00000370122:F101I;ENSP00000324375:F290I;ENSP00000264709:F290I;ENSP00000384237:F67I	ENSP00000264709:F290I	F	-	1	0	DNMT3A	25324110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.040000	0.93783	2.088000	0.63022	0.379000	0.24179	TTT		0.652	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		T	25470606	A	T	25470606	3	4	430	1	0	0	0	0	1	0	0	0	4678	72	3	5	1934	5	DNMT3A	2	25470606	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08		25470606	217728767	9	23550											
RGPD3	653489	broad.mit.edu	37	2	107052648	107052649	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:107052648_107052649insA	ENST00000409886.3	-	12	1775_1776	c.1688_1689insT	c.(1687-1689)ctafs	p.L563fs	RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.L563fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	563					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTGGGCTCTTAGAGTGTTTAT	0.342																																																0																																										SO:0001589	frameshift_variant	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.1689dupT	2.37:g.107052649_107052649dupA	ENSP00000386588:p.Leu563fs		B8ZZM4	Frame_Shift_Ins	INS	ENST00000409886.3	37	CCDS46379.1																																																																																				0.342	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		A	107052649	-	A	107052648	7	5	430	1	0	1	1	0	0	0	0	0	13293	1741	61	0	3635	0	RGPD3	2	107052648	Frame_Shift_Ins	INS	-	TCGA-BP-5181-01A-01D-1429-08	81582042	107052648	136146725	10	23551											
ARL6IP6	151188	broad.mit.edu	37	2	153591609	153591609	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:153591609C>T	ENST00000326446.5	+	3	1267	c.556C>T	c.(556-558)Cct>Tct	p.P186S	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	186						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AGGAATGTTTCCTCCTACTCC	0.368																																																0													135	130	132					2																	153591609		2202	4300	6502	SO:0001583	missense	151188			AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.556C>T	2.37:g.153591609C>T	ENSP00000315357:p.Pro186Ser		B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	37	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917872	0.92249	.	.	ENSG00000177917	ENST00000326446	.	.	.	5.87	5.87	0.94306	.	0.144790	0.45606	D	0.000344	T	0.79759	0.4501	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80567	-0.1325	9	0.87932	D	0	-19.3382	18.9906	0.92789	0.0:1.0:0.0:0.0	.	186;186	B3KMZ5;Q8N6S5	.;AR6P6_HUMAN	S	186	.	ENSP00000315357:P186S	P	+	1	0	ARL6IP6	153299855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.883000	0.69721	2.780000	0.95670	0.655000	0.94253	CCT		0.368	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		T	153591609	C	T	153591609	3	4	430	1	0	0	0	0	1	0	0	0	945	855	30	2	566	2	ARL6IP6	2	153591609	Missense_Mutation	SNP	C	TCGA-BP-5181-01A-01D-1429-08	46538961	153591609	89607764	11	23552											
SCN9A	6335	broad.mit.edu	37	2	167085470	167085470	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:167085470C>T	ENST00000409435.1	-	21	3936	c.3937G>A	c.(3937-3939)Gca>Aca	p.A1313T	SCN9A_ENST00000375387.4_Missense_Mutation_p.A1314T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.A1314T|SCN9A_ENST00000409672.1_Missense_Mutation_p.A1302T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1313					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTATGAGTGCATTCACAACG	0.358																																																0													99	98	98					2																	167085470		2077	4250	6327	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3937G>A	2.37:g.167085470C>T	ENSP00000386330:p.Ala1313Thr		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177532	0.94846	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000015	D	0.98785	0.9591	M	0.73319	2.225	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.99878	1.1108	10	0.87932	D	0	.	19.4918	0.95052	0.0:1.0:0.0:0.0	.	1302	E7EUN6	.	T	1302;1314;1314;1313	ENSP00000386306:A1302T;ENSP00000364536:A1314T;ENSP00000304748:A1314T;ENSP00000386330:A1313T	ENSP00000304748:A1314T	A	-	1	0	SCN9A	166793716	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.008000	0.70739	2.616000	0.88540	0.557000	0.71058	GCA		0.358	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		T	167085470	C	T	167085470	3	4	430	1	0	0	0	0	1	0	0	0	13931	710	25	2	2053	2	SCN9A	2	167085470	Missense_Mutation	SNP	C	TCGA-BP-5181-01A-01D-1429-08	13493861	167085470	76113903	12	23553											
COL5A2	1290	broad.mit.edu	37	2	189964840	189964840	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:189964840A>T	ENST00000374866.3	-	4	636	c.362T>A	c.(361-363)gTg>gAg	p.V121E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	121					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TACAACAGGCACTAATCCTGG	0.308																																																0													70	69	69					2																	189964840		2203	4298	6501	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.362T>A	2.37:g.189964840A>T	ENSP00000364000:p.Val121Glu		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.304960	0.81247	.	.	ENSG00000204262	ENST00000374866	D	0.96619	-4.07	5.44	5.44	0.79542	.	0.141721	0.31566	N	0.007437	D	0.95623	0.8577	L	0.42245	1.32	0.58432	D	0.999999	D	0.61080	0.989	P	0.53760	0.734	D	0.94783	0.7955	9	.	.	.	.	13.7057	0.62636	1.0:0.0:0.0:0.0	.	121	P05997	CO5A2_HUMAN	E	121	ENSP00000364000:V121E	.	V	-	2	0	COL5A2	189673085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.566000	0.73978	2.055000	0.61198	0.533000	0.62120	GTG		0.308	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		T	189964840	A	T	189964840	3	4	430	1	0	0	0	0	1	0	0	0	3699	159	6	5	4341	5	COL5A2	2	189964840	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08	22879370	189964840	53234533	13	23554											
COL4A3	1285	broad.mit.edu	37	2	228118844	228118844	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:228118844A>G	ENST00000396578.3	+	14	944	c.782A>G	c.(781-783)aAg>aGg	p.K261R	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	261	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGGGGAAAAGGGAGACAAG	0.433																																																0													102	109	107					2																	228118844		1888	4116	6004	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.782A>G	2.37:g.228118844A>G	ENSP00000379823:p.Lys261Arg		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515591	0.64634	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.88509	-2.39	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000023	D	0.90841	0.7123	L	0.39566	1.225	0.34362	D	0.691052	D;D;D;D	0.89917	0.996;0.998;1.0;0.997	D;D;D;D	0.78314	0.955;0.969;0.991;0.95	D	0.92550	0.6049	10	0.36615	T	0.2	.	11.9828	0.53129	1.0:0.0:0.0:0.0	.	261;261;261;261	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	R	261	ENSP00000379823:K261R	ENSP00000323334:K261R	K	+	2	0	COL4A3	227827088	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	4.247000	0.58750	2.088000	0.63022	0.383000	0.25322	AAG		0.433	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		G	228118844	A	G	228118844	3	3	430	1	0	0	0	0	1	0	0	0	3693	72	3	3	836	3	COL4A3	2	228118844	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08	38154004	228118844	15080529	14	23555											
DNER	92737	broad.mit.edu	37	2	230253114	230253114	+	Splice_Site	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr2:230253114T>G	ENST00000341772.4	-	11	1858		c.e11-2			NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing						central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACTCTTCACCTAGGGAGATAA	0.483																																																0													110	110	110					2																	230253114		2203	4300	6503	SO:0001630	splice_region_variant	92737			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1724-2A>C	2.37:g.230253114T>G			A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Splice_Site	SNP	ENST00000341772.4	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.418857	0.42918	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6101	0.76710	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNER	229961358	1.000000	0.71417	0.971000	0.41717	0.180000	0.23129	7.116000	0.77119	2.173000	0.68751	0.523000	0.50628	.		0.483	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	Intron	G	230253114	T	G	230253114	5	3	430	1	0	0	0	0	0	0	1	0	4669	1536	53	5	503	5	DNER	2	230253114	Splice_Site	SNP	T	TCGA-BP-5181-01A-01D-1429-08	2134270	230253114	12946259	15	23556											
VHL	7428	broad.mit.edu	37	3	10183805	10183809	+	Frame_Shift_Del	DEL	GACGG	GACGG	-	rs587780731|rs5030808		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:10183805_10183809delGACGG	ENST00000256474.2	+	1	1114_1118	c.274_278delGACGG	c.(274-279)gacggcfs	p.DG92fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Del_p.DG92fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	92			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G93fs*66(2)|p.G93R(2)|p.?_?ins?(1)|p.D92_G93>G(1)|p.D92fs*67(1)|p.F91fs*64(1)|p.R60fs*35(1)|p.N90fs*67(1)|p.D92Y(1)|p.V84_E94>E(1)|p.D92fs*68(1)|p.D92fs*38(1)|p.D92fs*65(1)|p.N90fs*38(1)|p.F91_E94del(1)|p.D92N(1)|p.G93S(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCTCAACTTCGACGGCGAGCCGCAG	0.717		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	19	Deletion - Frameshift(8)|Substitution - Missense(5)|Complex - deletion inframe(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - frameshift(1)	kidney(17)|adrenal_gland(1)|soft_tissue(1)	GRCh37	CD941807|CM011824|CM020978|CM951279|CM961419	VHL	D|M	rs5030808																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.274_278delGACGG	3.37:g.10183805_10183809delGACGG	ENSP00000256474:p.Asp92fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.717	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183809	GACGG	-	10183805	7	5	430	1	0	1	0	1	0	0	0	0	17167	1058	37	0	276	0	VHL	3	10183805	Frame_Shift_Del	DEL	GACGG	TCGA-BP-5181-01A-01D-1429-08		10183805	187838625	16	23557											
PBRM1	55193	broad.mit.edu	37	3	52712614	52712614	+	Splice_Site	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:52712614C>A	ENST00000296302.7	-	2	140		c.e2-1		PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACACGGCAATCTACACATTAG	0.393			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													97	89	92					3																	52712614		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.139-1G>T	3.37:g.52712614C>A			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	17.81	3.481403	0.63849	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7359	0.91755	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52687654	1.000000	0.71417	0.999000	0.59377	0.708000	0.40852	7.201000	0.77847	2.432000	0.82394	0.460000	0.39030	.		0.393	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	A	52712614	C	A	52712614	5	1	430	1	0	0	0	0	0	0	1	0	11493	927	32	4	4878	4	PBRM1	3	52712614	Splice_Site	SNP	C	TCGA-BP-5181-01A-01D-1429-08	42528809	52712614	145309816	17	23558											
CADPS	8618	broad.mit.edu	37	3	62498425	62498425	+	Splice_Site	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:62498425C>A	ENST00000383710.4	-	17	2949		c.e17+1		CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATTGGTTCACCTGCATCCTT	0.358																																																0													80	79	79					3																	62498425		1852	4092	5944	SO:0001630	splice_region_variant	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2599+1G>T	3.37:g.62498425C>A			A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Splice_Site	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636550	0.47049	.	.	ENSG00000163618	ENST00000383710;ENST00000491424	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8024	0.96513	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADPS	62473465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.551000	0.73909	2.752000	0.94435	0.655000	0.94253	.		0.358	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	Intron	A	62498425	C	A	62498425	5	1	430	1	0	0	0	0	0	0	1	0	2572	521	18	4	1517	4	CADPS	3	62498425	Splice_Site	SNP	C	TCGA-BP-5181-01A-01D-1429-08	9785811	62498425	135524005	18	23559											
ZBTB11	27107	broad.mit.edu	37	3	101378747	101378747	+	Silent	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:101378747A>T	ENST00000312938.4	-	6	2506	c.1926T>A	c.(1924-1926)tcT>tcA	p.S642S	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGCCCTTCTCAGATGATGTTC	0.423																																																0													147	135	139					3																	101378747		2203	4300	6503	SO:0001819	synonymous_variant	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1926T>A	3.37:g.101378747A>T			Q2NKP9	Silent	SNP	ENST00000312938.4	37	CCDS2943.1																																																																																				0.423	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		T	101378747	A	T	101378747	2	4	430	1	0	0	0	0	0	0	0	1	17529	175	7	5		5	ZBTB11	3	101378747	Silent	SNP	A	TCGA-BP-5181-01A-01D-1429-08	38880322	101378747	96643683	19	23560											
NPHP3	27031	broad.mit.edu	37	3	132432049	132432049	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr3:132432049T>A	ENST00000337331.5	-	6	1125	c.1039A>T	c.(1039-1041)Aat>Tat	p.N347Y	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000326682.8_Missense_Mutation_p.N347Y	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	347					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGTATTGATTTTCAACATCT	0.284																																																0													44	46	45					3																	132432049		2199	4273	6472	SO:0001583	missense	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1039A>T	3.37:g.132432049T>A	ENSP00000338766:p.Asn347Tyr		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.440784	0.63067	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91996	-2.95;-2.84	6.02	4.86	0.63082	.	0.247012	0.47852	D	0.000210	D	0.88362	0.6416	L	0.43152	1.355	0.80722	D	1	B	0.33857	0.429	B	0.33295	0.161	D	0.86332	0.1699	10	0.54805	T	0.06	-26.2459	12.3177	0.54966	0.0:0.0662:0.0:0.9338	.	347	Q7Z494	NPHP3_HUMAN	Y	347	ENSP00000319909:N347Y;ENSP00000338766:N347Y	ENSP00000319909:N347Y	N	-	1	0	NPHP3	133914739	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.148000	0.50647	1.087000	0.41251	0.482000	0.46254	AAT		0.284	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		A	132432049	T	A	132432049	3	1	430	1	0	0	0	0	1	0	0	0	10582	1841	64	5	3041	5	NPHP3	3	132432049	Missense_Mutation	SNP	T	TCGA-BP-5181-01A-01D-1429-08	31053302	132432049	65590381	20	23561											
IRX1	79192	broad.mit.edu	37	5	3601149	3601149	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr5:3601149G>A	ENST00000302006.3	+	4	1490	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	480					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTCCCGTCCGCCTGATTAAG	0.582																																																0													41	46	44					5																	3601149		2203	4297	6500	SO:0001583	missense	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1438G>A	5.37:g.3601149G>A	ENSP00000305244:p.Ala480Thr		Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061348	0.55432	.	.	ENSG00000170549	ENST00000302006	T	0.64438	-0.1	4.9	4.01	0.46588	.	0.000000	0.85682	U	0.000000	T	0.67382	0.2887	N	0.24115	0.695	0.47123	D	0.999322	D	0.89917	1.0	D	0.81914	0.995	T	0.71477	-0.4581	10	0.66056	D	0.02	.	15.0289	0.71691	0.0:0.1432:0.8568:0.0	.	480	P78414	IRX1_HUMAN	T	480	ENSP00000305244:A480T	ENSP00000305244:A480T	A	+	1	0	IRX1	3654149	1.000000	0.71417	0.844000	0.33320	0.733000	0.41908	7.738000	0.84966	1.016000	0.39470	0.655000	0.94253	GCC		0.582	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		A	3601149	G	A	3601149	3	1	430	1	0	0	0	0	1	0	0	0	7845	1087	38	1	1452	1	IRX1	5	3601149	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08		3601149	177314111	21	23562											
PCDHB3	56132	broad.mit.edu	37	5	140481574	140481574	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr5:140481574C>T	ENST00000231130.2	+	1	1341	c.1341C>T	c.(1339-1341)aaC>aaT	p.N447N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.562																																																0													100	94	96					5																	140481574		2203	4300	6503	SO:0001819	synonymous_variant	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1341C>T	5.37:g.140481574C>T			B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																				0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		T	140481574	C	T	140481574	2	4	430	1	0	0	0	0	0	0	0	1	11545	535	19	1		1	PCDHB3	5	140481574	Silent	SNP	C	TCGA-BP-5181-01A-01D-1429-08	136880425	140481574	40433686	22	23563											
G3BP1	10146	broad.mit.edu	37	5	151166239	151166239	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr5:151166239T>C	ENST00000394123.3	+	2	203	c.58T>C	c.(58-60)Tac>Cac	p.Y20H	G3BP1_ENST00000356245.3_Missense_Mutation_p.Y20H|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	20	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GAGACAGTATTACACACTGCT	0.458																																																0													139	131	134					5																	151166239		2203	4300	6503	SO:0001583	missense	10146			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.58T>C	5.37:g.151166239T>C	ENSP00000377681:p.Tyr20His		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959605	0.74016	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000274596;ENST00000520006	D;D	0.94046	-3.34;-3.34	5.05	2.64	0.31445	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96240	0.9175	10	0.87932	D	0	-9.1837	9.0531	0.36389	0.0:0.1511:0.0:0.8489	.	20;20	E5RJU8;Q13283	.;G3BP1_HUMAN	H	20	ENSP00000377681:Y20H;ENSP00000348578:Y20H	ENSP00000274596:Y20H	Y	+	1	0	G3BP1	151146432	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	7.629000	0.83207	0.363000	0.24346	0.402000	0.26972	TAC		0.458	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		C	151166239	T	C	151166239	3	2	430	1	0	0	0	0	1	0	0	0	6143	1754	61	3	60	3	G3BP1	5	151166239	Missense_Mutation	SNP	T	TCGA-BP-5181-01A-01D-1429-08	10684665	151166239	29749021	23	23564											
POU5F1	5460	broad.mit.edu	37	6	31138063	31138063	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr6:31138063G>C	ENST00000259915.8	-	1	407	c.335C>G	c.(334-336)cCg>cGg	p.P112R	POU5F1_ENST00000441888.3_Intron	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	112					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|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)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	GCAGGGCTCCGGGGAGGCCCC	0.657			T	EWSR1	sarcoma																																		Dom	yes		6	6p21.31	5460	"POU domain, class 5, transcription factor 1"		M	0													35	39	38					6																	31138063		1510	2708	4218	SO:0001583	missense	5460			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"Homeoboxes / POU class"	9221	protein-coding gene	gene with protein product		164177	"POU domain class 5, transcription factor 1"	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.335C>G	6.37:g.31138063G>C	ENSP00000259915:p.Pro112Arg		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	ENST00000259915.8	37	CCDS34391.1	.	.	.	.	.	.	.	.	.	.	G	9.963	1.223310	0.22457	.	.	ENSG00000204531	ENST00000259915	T	0.18657	2.2	3.96	3.96	0.45880	.	0.000000	0.40385	N	0.001114	T	0.10723	0.0262	L	0.46157	1.445	0.80722	D	1	P	0.49862	0.929	B	0.40134	0.32	T	0.03545	-1.1026	10	0.66056	D	0.02	.	11.6838	0.51474	0.0:0.0:1.0:0.0	.	112	Q01860	PO5F1_HUMAN	R	112	ENSP00000259915:P112R	ENSP00000259915:P112R	P	-	2	0	POU5F1	31246042	0.999000	0.42202	0.888000	0.34837	0.029000	0.11900	4.492000	0.60334	2.211000	0.71520	0.448000	0.29417	CCG		0.657	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701		C	31138063	G	C	31138063	3	2	430	1	0	0	0	0	1	0	0	0	12283	1116	39	4	767	4	POU5F1	6	31138063	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08		31138063	139977004	24	23565											
PHF1	5252	broad.mit.edu	37	6	33382565	33382565	+	Silent	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr6:33382565T>C	ENST00000374516.3	+	11	1279	c.1008T>C	c.(1006-1008)ccT>ccC	p.P336P	PHF1_ENST00000374512.3_Silent_p.P336P	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	336					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTCGGATGCCTCCCCCTGTGG	0.527											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													86	83	84					6																	33382565		2202	4299	6501	SO:0001819	synonymous_variant	5252			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1008T>C	6.37:g.33382565T>C		839	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	CCDS4777.1																																																																																				0.527	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			C	33382565	T	C	33382565	2	2	430	1	0	0	0	0	0	0	0	1	11822	1538	54	3		3	PHF1	6	33382565	Silent	SNP	T	TCGA-BP-5181-01A-01D-1429-08	2244502	33382565	137732502	25	23566											
REV3L	5980	broad.mit.edu	37	6	111697637	111697637	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr6:111697637G>T	ENST00000358835.3	-	14	2375	c.1921C>A	c.(1921-1923)Cat>Aat	p.H641N	REV3L_ENST00000435970.1_Missense_Mutation_p.H563N|REV3L_ENST00000368802.3_Missense_Mutation_p.H641N|REV3L_ENST00000368805.1_Missense_Mutation_p.H641N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	641					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTCTTTATGAGAATTTTCT	0.333								DNA polymerases (catalytic subunits)																																								0													52	56	54					6																	111697637		2198	4297	6495	SO:0001583	missense	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1921C>A	6.37:g.111697637G>T	ENSP00000351697:p.His641Asn		O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	9.757	1.168916	0.21621	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01474	4.94;4.94;4.94;4.85	5.31	5.31	0.75309	Ribonuclease H-like (1);	2.290650	0.01537	N	0.019075	T	0.01029	0.0034	L	0.32530	0.975	0.28832	N	0.897075	P	0.38922	0.651	B	0.30401	0.115	T	0.45687	-0.9244	10	0.62326	D	0.03	-9.7999	15.365	0.74513	0.0:0.1397:0.8603:0.0	.	641	O60673	DPOLZ_HUMAN	N	641;641;641;563	ENSP00000357792:H641N;ENSP00000357795:H641N;ENSP00000351697:H641N;ENSP00000402003:H563N	ENSP00000351697:H641N	H	-	1	0	REV3L	111804330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.078000	0.50096	2.491000	0.84063	0.563000	0.77884	CAT		0.333	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		T	111697637	G	T	111697637	3	4	430	1	0	0	0	0	1	0	0	0	13246	1290	45	4	7551	4	REV3L	6	111697637	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08	78315072	111697637	59417430	26	23567											
PION	54103	broad.mit.edu	37	7	76950057	76950057	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr7:76950057A>C	ENST00000257626.7	-	26	2152	c.2074T>G	c.(2074-2076)Tta>Gta	p.L692V	GSAP_ENST00000441833.2_Missense_Mutation_p.L13V|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	692					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GGCAGAGGTAAAAACAAACTG	0.388																																																0													75	72	73					7																	76950057		1866	4110	5976	SO:0001583	missense	54103				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2074T>G	7.37:g.76950057A>C	ENSP00000257626:p.Leu692Val		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173460	0.57584	.	.	ENSG00000186088	ENST00000257626;ENST00000441833;ENST00000415112	T;T;T	0.32988	1.43;1.43;1.43	5.82	0.916	0.19373	.	0.078615	0.52532	D	0.000079	T	0.25158	0.0611	M	0.64997	1.995	0.34674	D	0.724031	P	0.38078	0.617	B	0.36464	0.225	T	0.22417	-1.0217	10	0.59425	D	0.04	.	4.1567	0.10265	0.5207:0.0:0.3283:0.1509	.	692	A4D1B5	GSAP_HUMAN	V	692;13;145	ENSP00000257626:L692V;ENSP00000415402:L13V;ENSP00000396230:L145V	ENSP00000257626:L692V	L	-	1	2	PION	76787993	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	0.995000	0.29706	0.134000	0.18681	-0.250000	0.11733	TTA		0.388	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		C	76950057	A	C	76950057	3	2	430	1	0	0	0	0	1	0	0	0	11936	11	1	5	514	5	PION	7	76950057	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08		76950057	82188606	27	23568											
C8orf79	57604	broad.mit.edu	37	8	12879153	12879153	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:12879153A>G	ENST00000524591.2	+	5	1454	c.965A>G	c.(964-966)gAg>gGg	p.E322G	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	322							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAACACTTGGAGTGGCTGAGA	0.418																																																0													77	73	75					8																	12879153		1838	4102	5940	SO:0001583	missense	57604			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.965A>G	8.37:g.12879153A>G	ENSP00000432695:p.Glu322Gly		Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.253896	0.22965	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.11063	2.81	4.65	-0.448	0.12230	.	0.773939	0.12624	N	0.452730	T	0.08582	0.0213	L	0.42245	1.32	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31888	-0.9927	10	0.35671	T	0.21	-2.504	6.5774	0.22575	0.488:0.3706:0.1414:0.0	.	322	Q9P272	K1456_HUMAN	G	322;235	ENSP00000432695:E322G	ENSP00000432695:E322G	E	+	2	0	AC135352.2	12923524	0.403000	0.25319	0.002000	0.10522	0.058000	0.15608	2.018000	0.40991	-0.055000	0.13244	0.459000	0.35465	GAG		0.418	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		G	12879153	A	G	12879153	3	3	430	1	0	0	0	0	1	0	0	0	2440	304	11	3	975	3	C8orf79	8	12879153	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08		12879153	133484869	28	23569											
MYST3	7994	broad.mit.edu	37	8	41790405	41790405	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:41790405G>T	ENST00000396930.3	-	18	5876	c.5333C>A	c.(5332-5334)aCt>aAt	p.T1778N	KAT6A_ENST00000265713.2_Missense_Mutation_p.T1778N|KAT6A_ENST00000406337.1_Missense_Mutation_p.T1778N	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1778					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGCATAGGAAGTCACAGCAGG	0.532																																																0													241	233	236					8																	41790405		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5333C>A	8.37:g.41790405G>T	ENSP00000380136:p.Thr1778Asn		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596871	0.28445	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.66815	-0.23;-0.23;-0.23	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.66716	0.946	T	0.71613	-0.4540	10	0.33940	T	0.23	-17.1457	19.1646	0.93551	0.0:0.0:1.0:0.0	.	1778	Q92794	KAT6A_HUMAN	N	1778	ENSP00000265713:T1778N;ENSP00000385888:T1778N;ENSP00000380136:T1778N	ENSP00000265713:T1778N	T	-	2	0	KAT6A	41909562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.497000	0.84241	0.650000	0.86243	ACT		0.532	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		T	41790405	G	T	41790405	3	4	430	1	0	0	0	0	1	0	0	0	10106	1029	36	4	685	4	MYST3	8	41790405	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08	28911252	41790405	104573617	29	23570											
ZHX2	22882	broad.mit.edu	37	8	123965269	123965269	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:123965269G>A	ENST00000314393.4	+	3	2354	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	507					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAATCCCTTGCCAAAGACCA	0.567																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)											0													81	65	70					8																	123965269		2203	4300	6503	SO:0001583	missense	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1519G>A	8.37:g.123965269G>A	ENSP00000314709:p.Ala507Thr			Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148322	0.57151	.	.	ENSG00000178764	ENST00000314393	T	0.17854	2.25	5.7	5.7	0.88788	Homeodomain-like (1);	0.254929	0.38492	N	0.001674	T	0.14657	0.0354	L	0.27053	0.805	0.39220	D	0.963478	P	0.47106	0.89	B	0.43413	0.419	T	0.09684	-1.0663	10	0.15499	T	0.54	-21.94	16.1211	0.81357	0.0:0.1335:0.8665:0.0	.	507	Q9Y6X8	ZHX2_HUMAN	T	507	ENSP00000314709:A507T	ENSP00000314709:A507T	A	+	1	0	ZHX2	124034450	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.770000	0.62309	2.711000	0.92665	0.561000	0.74099	GCC		0.567	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		A	123965269	G	A	123965269	3	1	430	1	0	0	0	0	1	0	0	0	17681	1319	46	2	1521	2	ZHX2	8	123965269	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08	82174864	123965269	22398753	30	23571											
MTSS1	9788	broad.mit.edu	37	8	125603469	125603469	+	Silent	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr8:125603469G>T	ENST00000518547.1	-	4	689	c.216C>A	c.(214-216)acC>acA	p.T72T	MTSS1_ENST00000378017.3_Silent_p.T72T|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Silent_p.T72T	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	72	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATCTCCCTGGTCCCACCTG	0.498																																					Esophageal Squamous(160;622 1893 3862 8546 12509)											0													127	102	110					8																	125603469		2203	4300	6503	SO:0001819	synonymous_variant	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.216C>A	8.37:g.125603469G>T			J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	ENST00000518547.1	37	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	G	2.282	-0.364497	0.05103	.	.	ENSG00000170873	ENST00000522162	.	.	.	5.77	3.93	0.45458	.	.	.	.	.	T	0.63426	0.2510	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60105	-0.7328	4	.	.	.	-27.6392	12.5666	0.56314	0.0:0.1274:0.7398:0.1327	.	.	.	.	Q	67	.	.	P	-	2	0	MTSS1	125672650	0.999000	0.42202	0.870000	0.34147	0.247000	0.25773	1.259000	0.32956	0.752000	0.32923	0.650000	0.86243	CCA		0.498	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		T	125603469	G	T	125603469	2	4	430	1	0	0	0	0	0	0	0	1	9964	1335	47	4		4	MTSS1	8	125603469	Silent	SNP	G	TCGA-BP-5181-01A-01D-1429-08	1638200	125603469	20760553	31	23572											
UBQLN1	29979	broad.mit.edu	37	9	86292725	86292725	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:86292725G>T	ENST00000376395.4	-	6	1545	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	UBQLN1_ENST00000257468.7_Missense_Mutation_p.T341N	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	341					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GCCACCCACAGTGCTGGCAGT	0.522																																					Melanoma(186;1284 2073 12755 14558 18426)											0													81	74	77					9																	86292725		2203	4300	6503	SO:0001583	missense	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1022C>A	9.37:g.86292725G>T	ENSP00000365576:p.Thr341Asn		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877869	0.33162	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.79749	-1.3;-1.3;-1.3	5.82	4.9	0.64082	.	1.113020	0.06574	N	0.749131	T	0.65471	0.2694	N	0.04686	-0.185	0.09310	N	1	B;B	0.26002	0.016;0.139	B;B	0.24701	0.025;0.055	T	0.46978	-0.9152	10	0.16896	T	0.51	.	13.1784	0.59641	0.0:0.3832:0.6168:0.0	.	341;341	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	N	341;341;138	ENSP00000365576:T341N;ENSP00000257468:T341N;ENSP00000434194:T138N	ENSP00000257468:T341N	T	-	2	0	UBQLN1	85482545	0.486000	0.25980	0.048000	0.18961	0.917000	0.54804	4.533000	0.60615	2.756000	0.94617	0.561000	0.74099	ACT		0.522	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		T	86292725	G	T	86292725	3	4	430	1	0	0	0	0	1	0	0	0	16901	1029	36	4	771	4	UBQLN1	9	86292725	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08		86292725	54920706	32	23573											
SLC28A3	64078	broad.mit.edu	37	9	86900351	86900351	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr9:86900351T>G	ENST00000376238.4	-	14	1605	c.1556A>C	c.(1555-1557)gAa>gCa	p.E519A	SLC28A3_ENST00000537648.1_Missense_Mutation_p.E450A|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	519					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	AGCCACAAATTCATTGAAGAA	0.423																																					Ovarian(106;425 1539 34835 42413 43572)											0													104	104	104					9																	86900351		2203	4300	6503	SO:0001583	missense	64078			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1556A>C	9.37:g.86900351T>G	ENSP00000365413:p.Glu519Ala		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434756	0.83885	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.18338	2.22;2.22	5.74	4.59	0.56863	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	H	0.95850	3.73	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.67169	-0.5738	10	0.87932	D	0	-26.123	12.0651	0.53583	0.0:0.0675:0.0:0.9325	.	519	Q9HAS3	S28A3_HUMAN	A	519;450	ENSP00000365413:E519A;ENSP00000446438:E450A	ENSP00000365413:E519A	E	-	2	0	SLC28A3	86090171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.941000	0.87700	1.099000	0.41499	0.459000	0.35465	GAA		0.423	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		G	86900351	T	G	86900351	3	3	430	1	0	0	0	0	1	0	0	0	14539	1783	62	5	539	5	SLC28A3	9	86900351	Missense_Mutation	SNP	T	TCGA-BP-5181-01A-01D-1429-08	607626	86900351	54313080	33	23574											
PIP4K2A	5305	broad.mit.edu	37	10	23003251	23003251	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr10:23003251G>A	ENST00000376573.4	-	1	233	c.5C>T	c.(4-6)gCg>gTg	p.A2V	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	2					megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GCCGGGGGTCGCCATGGCCGC	0.687																																																0													55	51	52					10																	23003251		2203	4300	6503	SO:0001583	missense	5305			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.5C>T	10.37:g.23003251G>A	ENSP00000365757:p.Ala2Val		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	g	15.43	2.832583	0.50845	.	.	ENSG00000150867	ENST00000376573	T	0.26810	1.71	3.65	2.72	0.32119	.	0.170990	0.38897	U	0.001535	T	0.10337	0.0253	N	0.08118	0	0.80722	D	1	P	0.38745	0.645	B	0.22753	0.041	T	0.14952	-1.0454	10	0.72032	D	0.01	.	11.3059	0.49334	0.0:0.0:0.816:0.1839	.	2	P48426	PI42A_HUMAN	V	2	ENSP00000365757:A2V	ENSP00000365757:A2V	A	-	2	0	PIP4K2A	23043257	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	6.298000	0.72763	0.748000	0.32831	0.274000	0.19336	GCG		0.687	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		A	23003251	G	A	23003251	3	1	430	1	0	0	0	0	1	0	0	0	11938	1087	38	1	1255	1	PIP4K2A	10	23003251	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08		23003251	112531496	34	23575											
PBLD	64081	broad.mit.edu	37	10	70045112	70045112	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr10:70045112T>G	ENST00000358769.2	-	9	949	c.747A>C	c.(745-747)gaA>gaC	p.E249D	PBLD_ENST00000309049.4_Missense_Mutation_p.E249D|PBLD_ENST00000432941.1_Missense_Mutation_p.E249D|PBLD_ENST00000495025.2_Missense_Mutation_p.E249D|PBLD_ENST00000336578.1_Missense_Mutation_p.E216D	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	249					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TACCATGCATTTCTTTCTTCC	0.413																																																0													111	113	113					10																	70045112		2203	4300	6503	SO:0001583	missense	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.747A>C	10.37:g.70045112T>G	ENSP00000351619:p.Glu249Asp		A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387613	0.42308	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.31510	1.56;1.56;1.56;1.49	5.24	-5.29	0.02747	.	0.330284	0.30940	N	0.008567	T	0.12135	0.0295	L	0.28649	0.875	0.30356	N	0.784331	B;B	0.10296	0.003;0.0	B;B	0.17979	0.02;0.006	T	0.20638	-1.0269	10	0.14656	T	0.56	-0.2043	0.6303	0.00793	0.1857:0.2154:0.2333:0.3657	.	249;249	C9JIM0;P30039	.;PBLD_HUMAN	D	216;249;249;249	ENSP00000338041:E216D;ENSP00000351619:E249D;ENSP00000308466:E249D;ENSP00000395534:E249D	ENSP00000308466:E249D	E	-	3	2	PBLD	69715118	0.086000	0.21541	0.763000	0.31416	0.996000	0.88848	-1.125000	0.03257	-0.861000	0.04094	0.460000	0.39030	GAA		0.413	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		G	70045112	T	G	70045112	3	3	430	1	0	0	0	0	1	0	0	0	11491	1838	64	5	216	5	PBLD	10	70045112	Missense_Mutation	SNP	T	TCGA-BP-5181-01A-01D-1429-08	47041861	70045112	65489635	35	23576											
DDX21	9188	broad.mit.edu	37	10	70742529	70742529	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr10:70742529A>T	ENST00000354185.4	+	15	2411	c.2313A>T	c.(2311-2313)aaA>aaT	p.K771N		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	771					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCAAAACAAAGGCCAGAAGC	0.428																																																0													106	105	106					10																	70742529		2203	4300	6503	SO:0001583	missense	9188			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.2313A>T	10.37:g.70742529A>T	ENSP00000346120:p.Lys771Asn		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898971	0.52227	.	.	ENSG00000165732	ENST00000354185	T	0.16897	2.31	5.8	5.8	0.92144	.	2.643230	0.01047	N	0.004407	T	0.11750	0.0286	N	0.08118	0	0.32971	D	0.52239	B	0.28128	0.201	B	0.16722	0.016	T	0.13019	-1.0525	10	0.48119	T	0.1	-39.7758	8.663	0.34103	0.9155:0.0:0.0845:0.0	.	771	Q9NR30	DDX21_HUMAN	N	771	ENSP00000346120:K771N	ENSP00000346120:K771N	K	+	3	2	DDX21	70412535	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	1.630000	0.37081	2.219000	0.72066	0.533000	0.62120	AAA		0.428	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		T	70742529	A	T	70742529	3	4	430	1	0	0	0	0	1	0	0	0	4351	69	3	5	2371	5	DDX21	10	70742529	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08	697417	70742529	64792218	36	23577											
MICAL2	9645	broad.mit.edu	37	11	12248593	12248593	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:12248593G>T	ENST00000256194.4	+	15	2198	c.1910G>T	c.(1909-1911)gGa>gTa	p.G637V	MICAL2_ENST00000537344.1_Missense_Mutation_p.G637V|MICAL2_ENST00000379612.3_Missense_Mutation_p.G637V|MICAL2_ENST00000342902.5_Missense_Mutation_p.G637V|MICAL2_ENST00000527546.1_Missense_Mutation_p.G637V	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	637					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAAAACTATGGAGAAAATGCT	0.458																																																0													113	102	106					11																	12248593		2201	4294	6495	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1910G>T	11.37:g.12248593G>T	ENSP00000256194:p.Gly637Val		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	5.932	0.356035	0.11239	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.61510	0.14;0.1;0.14;0.1;0.23	4.88	1.98	0.26296	.	0.296575	0.32884	N	0.005531	T	0.47154	0.1430	L	0.50333	1.59	0.52501	D	0.999959	B;P;P;B;P;B	0.44946	0.105;0.789;0.846;0.037;0.684;0.002	B;B;B;B;B;B	0.41374	0.027;0.33;0.355;0.017;0.287;0.007	T	0.28459	-1.0043	10	0.33141	T	0.24	.	8.0645	0.30652	0.1465:0.1304:0.7231:0.0	.	170;637;637;637;637;637	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	V	637;170;637;637;637;637	ENSP00000441689:G637V;ENSP00000256194:G637V;ENSP00000433965:G637V;ENSP00000344894:G637V;ENSP00000368932:G637V	ENSP00000256194:G637V	G	+	2	0	MICAL2	12205169	1.000000	0.71417	0.983000	0.44433	0.257000	0.26127	2.662000	0.46766	0.261000	0.21753	-0.175000	0.13238	GGA		0.458	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		T	12248593	G	T	12248593	3	4	430	1	0	0	0	0	1	0	0	0	9572	1174	41	4	1960	4	MICAL2	11	12248593	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08		12248593	122757923	37	23578											
CD44	960	broad.mit.edu	37	11	35198275	35198275	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:35198275T>A	ENST00000428726.2	+	2	344	c.221T>A	c.(220-222)tTt>tAt	p.F74Y	CD44_ENST00000433354.2_Missense_Mutation_p.F74Y|CD44_ENST00000434472.2_Missense_Mutation_p.F74Y|CD44_ENST00000360158.4_Missense_Mutation_p.F74Y|CD44_ENST00000263398.6_Missense_Mutation_p.F74Y|CD44_ENST00000437706.2_Missense_Mutation_p.F74Y|CD44_ENST00000278386.6_Missense_Mutation_p.F74Y|CD44_ENST00000449691.2_Missense_Mutation_p.F74Y|CD44_ENST00000526025.1_Missense_Mutation_p.F74Y|CD44_ENST00000352818.4_Missense_Mutation_p.F74Y|CD44_ENST00000415148.2_Missense_Mutation_p.F74Y|CD44_ENST00000433892.2_Missense_Mutation_p.F74Y|CD44_ENST00000526669.2_Missense_Mutation_p.F74Y	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	74	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AGCATCGGATTTGAGACCTGC	0.592																																																0													47	45	45					11																	35198275		2202	4298	6500	SO:0001583	missense	960			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.221T>A	11.37:g.35198275T>A	ENSP00000398632:p.Phe74Tyr		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.288417|4.288417	0.80803|0.80803	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000263398;ENST00000526025;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000278386;ENST00000434472;ENST00000352818;ENST00000525211;ENST00000526669;ENST00000526000;ENST00000279452|ENST00000527889	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.08720|.	3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06;3.06|.	5.85|5.85	5.85|5.85	0.93711|0.93711	C-type lectin fold (1);Link (5);C-type lectin-like (1);|.	0.109676|.	0.64402|.	D|.	0.000005|.	T|T	0.69405|0.69405	0.3107|0.3107	L|L	0.56769|0.56769	1.78|1.78	0.46044|0.46044	D|D	0.99883|0.99883	D;D;D;D;D;P;P|.	0.89917|.	1.0;0.996;0.999;0.997;0.986;0.705;0.749|.	D;D;D;D;D;P;P|.	0.97110|.	1.0;0.998;0.998;0.998;0.995;0.904;0.865|.	T|T	0.67879|0.67879	-0.5556|-0.5556	10|5	0.72032|.	D|.	0.01|.	-3.2284|-3.2284	14.2004|14.2004	0.65699|0.65699	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	74;74;74;74;74;74;74|.	B6EAT9;P16070-11;O95370;P16070-12;P16070-10;P16070-4;P16070|.	.;.;.;.;.;.;CD44_HUMAN|.	Y|M	74;74;74;74;74;74;74;74;74;74;74;74;53;53;52;34|30	ENSP00000263398:F74Y;ENSP00000435377:F74Y;ENSP00000389830:F74Y;ENSP00000414567:F74Y;ENSP00000391008:F74Y;ENSP00000403990:F74Y;ENSP00000353280:F74Y;ENSP00000398632:F74Y;ENSP00000392331:F74Y;ENSP00000278386:F74Y;ENSP00000404447:F74Y;ENSP00000309732:F74Y;ENSP00000432405:F53Y;ENSP00000434465:F52Y;ENSP00000279452:F34Y|.	ENSP00000263398:F74Y|.	F|L	+|+	2|1	0|2	CD44|CD44	35154851|35154851	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.594000|0.594000	0.36715|0.36715	5.137000|5.137000	0.64789|0.64789	2.237000|2.237000	0.73441|0.73441	0.459000|0.459000	0.35465|0.35465	TTT|TTG		0.592	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		A	35198275	T	A	35198275	3	1	430	1	0	0	0	0	1	0	0	0	3019	1841	64	5	227	5	CD44	11	35198275	Missense_Mutation	SNP	T	TCGA-BP-5181-01A-01D-1429-08	22949682	35198275	99808241	38	23579											
C11orf67	28971	broad.mit.edu	37	11	77553573	77553573	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:77553573T>C	ENST00000526415.1	+	3	204	c.31T>C	c.(31-33)Tgg>Cgg	p.W11R	AAMDC_ENST00000525409.1_Missense_Mutation_p.W11R|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000525034.1_Missense_Mutation_p.W30R|AAMDC_ENST00000533193.1_Missense_Mutation_p.W11R|AAMDC_ENST00000304716.8_Missense_Mutation_p.W11R|AAMDC_ENST00000393427.2_Missense_Mutation_p.W11R|AAMDC_ENST00000527134.1_Missense_Mutation_p.W11R|AAMDC_ENST00000532481.1_Missense_Mutation_p.W11R			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	11	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											TTCCTTATCATGGGGGCAAAT	0.388																																																0													49	54	52					11																	77553573		2200	4292	6492	SO:0001583	missense	28971			BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 67"	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.31T>C	11.37:g.77553573T>C	ENSP00000431808:p.Trp11Arg		Q96AQ4|Q9Y6B1	Missense_Mutation	SNP	ENST00000526415.1	37	CCDS8254.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297767	0.81025	.	.	ENSG00000087884	ENST00000532481;ENST00000526415;ENST00000393427;ENST00000527134;ENST00000304716;ENST00000525409;ENST00000533193;ENST00000525034	T;T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;0.99;-0.99;-0.99	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.87410	0.2375	10	0.87932	D	0	-8.928	15.6986	0.77521	0.0:0.0:0.0:1.0	.	11;11;11	E9PLK9;Q9H7C9;Q9H7C9-3	.;CK067_HUMAN;.	R	11;11;11;11;11;11;11;30	ENSP00000433293:W11R;ENSP00000431808:W11R;ENSP00000377078:W11R;ENSP00000433281:W11R;ENSP00000307254:W11R;ENSP00000433956:W11R;ENSP00000436086:W11R;ENSP00000432830:W30R	ENSP00000307254:W11R	W	+	1	0	C11orf67	77231221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.788000	0.75105	2.371000	0.80710	0.533000	0.62120	TGG		0.388	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390976.1	NM_024684		C	77553573	T	C	77553573	3	2	430	1	0	0	0	0	1	0	0	0	1659	1464	51	3	33	3	C11orf67	11	77553573	Missense_Mutation	SNP	T	TCGA-BP-5181-01A-01D-1429-08	42355298	77553573	57452943	39	23580											
PICALM	8301	broad.mit.edu	37	11	85733457	85733457	+	Silent	SNP	T	T	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:85733457T>C	ENST00000393346.3	-	4	553	c.405A>G	c.(403-405)gcA>gcG	p.A135A	PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000532317.1_Silent_p.A135A|PICALM_ENST00000526033.1_Silent_p.A135A|PICALM_ENST00000356360.5_Silent_p.A135A|PICALM_ENST00000528398.1_Silent_p.A84A			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	135	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TGTATGAAACTGCTTTCTCAT	0.284			T	"MLLT10, MLL"	"TALL, AML, "																																		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													100	104	103					11																	85733457		2202	4294	6496	SO:0001819	synonymous_variant	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.405A>G	11.37:g.85733457T>C			B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	CCDS8272.1																																																																																				0.284	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		C	85733457	T	C	85733457	2	2	430	1	0	0	0	0	0	0	0	1	11882	1567	55	3		3	PICALM	11	85733457	Silent	SNP	T	TCGA-BP-5181-01A-01D-1429-08	8179884	85733457	49273059	40	23581											
CNTN5	53942	broad.mit.edu	37	11	100169931	100169931	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr11:100169931G>A	ENST00000524871.1	+	20	2713	c.2423G>A	c.(2422-2424)gGc>gAc	p.G808D	CNTN5_ENST00000418526.2_Missense_Mutation_p.G734D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G808D|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.G808D|CNTN5_ENST00000528682.1_Missense_Mutation_p.G808D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	808	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAGGCTTCGGCTATATTGTG	0.373																																																0													44	41	42					11																	100169931		1824	4079	5903	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2423G>A	11.37:g.100169931G>A	ENSP00000435637:p.Gly808Asp		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903641	0.92035	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87761	0.2598	10	0.87932	D	0	.	18.6488	0.91421	0.0:0.0:1.0:0.0	.	734;808	O94779-2;O94779	.;CNTN5_HUMAN	D	808;808;808;734;808	ENSP00000433575:G808D;ENSP00000436185:G808D;ENSP00000435637:G808D;ENSP00000393229:G734D;ENSP00000279463:G808D	ENSP00000279463:G808D	G	+	2	0	CNTN5	99675141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.725000	0.98778	2.660000	0.90430	0.650000	0.86243	GGC		0.373	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		A	100169931	G	A	100169931	3	1	430	1	0	0	0	0	1	0	0	0	3646	1203	42	2	2493	2	CNTN5	11	100169931	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08	14436474	100169931	34836585	41	23582											
PRKAG1	5571	broad.mit.edu	37	12	49397588	49397588	+	Missense_Mutation	SNP	T	T	C	rs201727373		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:49397588T>C	ENST00000548065.1	-	9	1111	c.655A>G	c.(655-657)Att>Gtt	p.I219V	RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.I168V|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.I187V|PRKAG1_ENST00000395170.3_Missense_Mutation_p.I135V|PRKAG1_ENST00000316299.5_Missense_Mutation_p.I228V|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	219	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	TGTACAAAAATCCCCAGAGCC	0.537																																																0													148	149	149					12																	49397588		2203	4300	6503	SO:0001583	missense	5571			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.655A>G	12.37:g.49397588T>C	ENSP00000447433:p.Ile219Val		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034516	0.35893	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000548950	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-2.87	4.97	4.97	0.65823	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	L	0.39514	1.22	0.58432	D	0.999996	B;B	0.12013	0.005;0.001	B;B	0.18561	0.014;0.022	D	0.85716	0.1322	10	0.30854	T	0.27	-14.3082	13.7721	0.63032	0.0:0.0:0.0:1.0	.	228;219	Q8N7V9;P54619	.;AAKG1_HUMAN	V	135;168;228;219;187;135	ENSP00000378599:I135V;ENSP00000448873:I168V;ENSP00000323867:I228V;ENSP00000447433:I219V;ENSP00000448972:I187V;ENSP00000450112:I135V	ENSP00000323867:I228V	I	-	1	0	PRKAG1	47683855	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.789000	0.85783	2.094000	0.63399	0.482000	0.46254	ATT		0.537	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		C	49397588	T	C	49397588	3	2	430	1	0	0	0	0	1	0	0	0	12505	1435	50	3	356	3	PRKAG1	12	49397588	Missense_Mutation	SNP	T	TCGA-BP-5181-01A-01D-1429-08		49397588	84454307	42	23583											
LMBR1L	55716	broad.mit.edu	37	12	49495053	49495053	+	Silent	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:49495053G>T	ENST00000267102.8	-	13	1404	c.1062C>A	c.(1060-1062)gtC>gtA	p.V354V	LMBR1L_ENST00000553204.1_5'Flank|LMBR1L_ENST00000547382.1_Intron|LMBR1L_ENST00000395141.4_Silent_p.V349V	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	354					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAACCTGAATGACGGCACCAA	0.532																																																0													129	112	118					12																	49495053		2203	4300	6503	SO:0001819	synonymous_variant	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.1062C>A	12.37:g.49495053G>T			Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	CCDS8780.2																																																																																				0.532	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		T	49495053	G	T	49495053	2	4	430	1	0	0	0	0	0	0	0	1	8843	1277	45	4		4	LMBR1L	12	49495053	Silent	SNP	G	TCGA-BP-5181-01A-01D-1429-08	97465	49495053	84356842	43	23584											
DIP2B	57609	broad.mit.edu	37	12	51077010	51077010	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:51077010A>G	ENST00000301180.5	+	10	1330	c.1296A>G	c.(1294-1296)atA>atG	p.I432M		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	432						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAGTGCCTATAGAGGTACCTC	0.433																																																0													154	144	147					12																	51077010		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1296A>G	12.37:g.51077010A>G	ENSP00000301180:p.Ile432Met		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308781	0.60305	.	.	ENSG00000066084	ENST00000301180	T	0.50001	0.76	4.98	2.46	0.29980	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	M	0.82056	2.57	0.53688	D	0.999973	D	0.60575	0.988	D	0.73708	0.981	T	0.61821	-0.6984	10	0.66056	D	0.02	-20.2665	6.2696	0.20947	0.5731:0.1462:0.0:0.2807	.	432	Q9P265	DIP2B_HUMAN	M	432	ENSP00000301180:I432M	ENSP00000301180:I432M	I	+	3	3	DIP2B	49363277	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.765000	0.26546	0.319000	0.23209	0.533000	0.62120	ATA		0.433	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		G	51077010	A	G	51077010	3	3	430	1	0	0	0	0	1	0	0	0	4530	410	15	3	1334	3	DIP2B	12	51077010	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08	1581957	51077010	82774885	44	23585											
PTPRR	5801	broad.mit.edu	37	12	71139699	71139699	+	Silent	SNP	G	G	T	rs191862927		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:71139699G>T	ENST00000283228.2	-	6	1358	c.906C>A	c.(904-906)gtC>gtA	p.V302V	PTPRR_ENST00000378778.1_Silent_p.V96V|PTPRR_ENST00000549308.1_Silent_p.V57V|PTPRR_ENST00000342084.4_Silent_p.V190V|PTPRR_ENST00000440835.2_Silent_p.V57V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	302					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAGGGTCCACGACAACATTCA	0.532																																																0													192	142	159					12																	71139699		2203	4300	6503	SO:0001819	synonymous_variant	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.906C>A	12.37:g.71139699G>T			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	CCDS8998.1																																																																																				0.532	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		T	71139699	G	T	71139699	2	4	430	1	0	0	0	0	0	0	0	1	12816	1045	37	4		4	PTPRR	12	71139699	Silent	SNP	G	TCGA-BP-5181-01A-01D-1429-08	20062689	71139699	62712196	45	23586											
CHPT1	56994	broad.mit.edu	37	12	102117531	102117531	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:102117531delT	ENST00000229266.3	+	7	1206	c.971delT	c.(970-972)cttfs	p.L324fs	CHPT1_ENST00000549872.1_Frame_Shift_Del_p.L324fs	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	324					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GAACTATATCTTCAAGACACT	0.299																																																0													82	81	82					12																	102117531		2201	4295	6496	SO:0001589	frameshift_variant	56994				CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"phosphatidylcholine synthesizing enzyme"					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.971delT	12.37:g.102117531delT	ENSP00000229266:p.Leu324fs		B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Frame_Shift_Del	DEL	ENST00000229266.3	37	CCDS9086.1																																																																																				0.299	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		-	102117531	T	-	102117531	7	5	430	1	0	1	0	1	0	0	0	0	3372	1609	56	0	997	0	CHPT1	12	102117531	Frame_Shift_Del	DEL	T	TCGA-BP-5181-01A-01D-1429-08	30977832	102117531	31734364	46	23587											
ACADS	35	broad.mit.edu	37	12	121175723	121175723	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr12:121175723A>G	ENST00000242592.4	+	5	707	c.556A>G	c.(556-558)Atc>Gtc	p.I186V	ACADS_ENST00000411593.2_Intron|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	186					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CAAAGCCTGGATCACCAATGC	0.637																																																0													66	65	65					12																	121175723		2203	4300	6503	SO:0001583	missense	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.556A>G	12.37:g.121175723A>G	ENSP00000242592:p.Ile186Val		P78331	Missense_Mutation	SNP	ENST00000242592.4	37	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829709	0.71258	.	.	ENSG00000122971	ENST00000242592	D	0.96136	-3.92	4.95	4.95	0.65309	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.93006	0.7774	N	0.13299	0.325	0.80722	D	1	B;B	0.29590	0.25;0.25	B;B	0.43360	0.417;0.417	D	0.92644	0.6127	10	0.72032	D	0.01	.	14.6059	0.68478	1.0:0.0:0.0:0.0	.	186;186	E5KSD5;P16219	.;ACADS_HUMAN	V	186	ENSP00000242592:I186V	ENSP00000242592:I186V	I	+	1	0	ACADS	119660106	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.900000	0.92551	1.855000	0.53841	0.379000	0.24179	ATC		0.637	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		G	121175723	A	G	121175723	3	3	430	1	0	0	0	0	1	0	0	0	114	333	12	3	574	3	ACADS	12	121175723	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08	19058192	121175723	12676172	47	23588											
KL	9365	broad.mit.edu	37	13	33635704	33635704	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr13:33635704G>A	ENST00000380099.3	+	4	2496	c.2488G>A	c.(2488-2490)Gtg>Atg	p.V830M	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	830	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTACCTAGAAGTGCAAGAAAT	0.458																																																0													86	86	86					13																	33635704		2203	4300	6503	SO:0001583	missense	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2488G>A	13.37:g.33635704G>A	ENSP00000369442:p.Val830Met		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835958	0.71373	.	.	ENSG00000133116	ENST00000380099	T	0.31769	1.48	5.91	5.06	0.68205	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.056187	0.64402	N	0.000001	T	0.56702	0.2003	M	0.82923	2.615	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.59974	-0.7353	10	0.45353	T	0.12	-23.0114	11.8389	0.52342	0.1396:0.0:0.8604:0.0	.	830	Q9UEF7	KLOT_HUMAN	M	830	ENSP00000369442:V830M	ENSP00000369442:V830M	V	+	1	0	KL	32533704	1.000000	0.71417	0.921000	0.36526	0.854000	0.48673	6.074000	0.71253	1.509000	0.48786	0.655000	0.94253	GTG		0.458	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			A	33635704	G	A	33635704	3	1	430	1	0	0	0	0	1	0	0	0	8333	1029	36	2	2502	2	KL	13	33635704	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08		33635704	81534174	48	23589	175	2									
KL	9365	broad.mit.edu	37	13	33635705	33635705	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr13:33635705T>A	ENST00000380099.3	+	4	2497	c.2489T>A	c.(2488-2490)gTg>gAg	p.V830E	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	830	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TACCTAGAAGTGCAAGAAATG	0.463																																																0													86	86	86					13																	33635705		2203	4300	6503	SO:0001583	missense	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2489T>A	13.37:g.33635705T>A	ENSP00000369442:p.Val830Glu		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524927	0.85600	.	.	ENSG00000133116	ENST00000380099	T	0.32988	1.43	5.91	5.91	0.95273	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.056187	0.64402	D	0.000001	T	0.58337	0.2115	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58154	-0.7686	10	0.35671	T	0.21	-23.0114	16.3436	0.83110	0.0:0.0:0.0:1.0	.	830	Q9UEF7	KLOT_HUMAN	E	830	ENSP00000369442:V830E	ENSP00000369442:V830E	V	+	2	0	KL	32533705	1.000000	0.71417	0.953000	0.39169	0.874000	0.50279	7.363000	0.79516	2.269000	0.75478	0.533000	0.62120	GTG		0.463	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			A	33635705	T	A	33635705	3	1	430	1	0	0	0	0	1	0	0	0	8333	1696	59	5	2503	5	KL	13	33635705	Missense_Mutation	SNP	T	TCGA-BP-5181-01A-01D-1429-08	1	33635705	81534173	49	23590	175	2									
KIAA1409	57578	broad.mit.edu	37	14	94044309	94044309	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr14:94044309A>C	ENST00000393151.2	+	18	2333	c.2333A>C	c.(2332-2334)aAt>aCt	p.N778T	UNC79_ENST00000553484.1_Missense_Mutation_p.N778T|UNC79_ENST00000256339.4_Missense_Mutation_p.N601T|UNC79_ENST00000555664.1_Missense_Mutation_p.N778T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	778					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTTTCAAGAATTTTGGACAC	0.433																																																0													199	185	190					14																	94044309		2203	4300	6503	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2333A>C	14.37:g.94044309A>C	ENSP00000376858:p.Asn778Thr		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	A	19.16	3.772995	0.69992	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19806	2.12;2.13;2.13;2.13	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	L	0.43152	1.355	0.53005	D	0.999965	B	0.33022	0.394	B	0.37650	0.255	T	0.04165	-1.0972	10	0.72032	D	0.01	-22.9357	15.2958	0.73906	1.0:0.0:0.0:0.0	.	778	C9JQL1	.	T	601;778;778;778;778	ENSP00000256339:N601T;ENSP00000450868:N778T;ENSP00000451360:N778T;ENSP00000376858:N778T	ENSP00000256339:N601T	N	+	2	0	KIAA1409	93114062	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.125000	0.64715	2.024000	0.59613	0.528000	0.53228	AAT		0.433	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		C	94044309	A	C	94044309	3	2	430	1	0	0	0	0	1	0	0	0	8232	101	4	5	1860	5	KIAA1409	14	94044309	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08		94044309	13305231	50	23591											
TSC2	7249	broad.mit.edu	37	16	2111908	2111908	+	Missense_Mutation	SNP	G	G	A	rs137854007|rs137854398		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:2111908G>A	ENST00000219476.3	+	12	1786	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	TSC2_ENST00000350773.4_Missense_Mutation_p.D386N|TSC2_ENST00000568454.1_Missense_Mutation_p.D397N|TSC2_ENST00000353929.4_Missense_Mutation_p.D386N|TSC2_ENST00000382538.6_Missense_Mutation_p.D337N|TSC2_ENST00000401874.2_Missense_Mutation_p.D386N|TSC2_ENST00000439673.2_Missense_Mutation_p.D349N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	386	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATCGTCCATGACCTGTTGAC	0.587			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													126	106	113					16																	2111908		2198	4300	6498	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1156G>A	16.37:g.2111908G>A	ENSP00000219476:p.Asp386Asn		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222075	0.58560	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.29	5.29	0.74685	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.101955	0.64402	D	0.000003	D	0.84732	0.5537	L	0.28115	0.83	0.50632	D	0.999883	B;B;B;B;B;D	0.76494	0.211;0.176;0.151;0.176;0.176;0.999	B;B;B;B;B;D	0.83275	0.147;0.132;0.1;0.132;0.103;0.996	D	0.85269	0.1055	10	0.52906	T	0.07	-33.7499	12.2945	0.54838	0.078:0.0:0.922:0.0	.	337;349;386;386;386;386	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	N	386;386;386;349;337;386	ENSP00000219476:D386N;ENSP00000384468:D386N;ENSP00000248099:D386N;ENSP00000399232:D349N;ENSP00000371978:D337N;ENSP00000344383:D386N	ENSP00000219476:D386N	D	+	1	0	TSC2	2051909	1.000000	0.71417	0.964000	0.40570	0.595000	0.36748	7.316000	0.79007	2.471000	0.83476	0.561000	0.74099	GAC		0.587	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		A	2111908	G	A	2111908	3	1	430	1	0	0	0	0	1	0	0	0	16611	1290	45	2	1198	2	TSC2	16	2111908	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08		2111908	88242845	51	23592											
NAGPA	51172	broad.mit.edu	37	16	5081819	5081819	+	Silent	SNP	C	C	A	rs138461608		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:5081819C>A	ENST00000312251.3	-	3	628	c.609G>T	c.(607-609)gtG>gtT	p.V203V	ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000381955.3_Silent_p.V203V|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'Flank	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	203					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GAATCAGCCACACGACCCCAC	0.557																																																0								C		1,4393	2.1+/-5.4	0,1,2196	197	169	178		609	1.3	1	16	dbSNP_134	178	0,8600		0,0,4300	no	coding-synonymous	NAGPA	NM_016256.3		0,1,6496	AA,AC,CC		0.0,0.0228,0.0077		203/516	5081819	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	51172			AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.609G>T	16.37:g.5081819C>A			B2RAS1|Q96EJ8	Silent	SNP	ENST00000312251.3	37	CCDS10527.1																																																																																				0.557	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		A	5081819	C	A	5081819	2	1	430	1	0	0	0	0	0	0	0	1	10146	465	17	4		4	NAGPA	16	5081819	Silent	SNP	C	TCGA-BP-5181-01A-01D-1429-08	2969911	5081819	85272934	52	23593											
VKORC1	79001	broad.mit.edu	37	16	31104693	31104693	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:31104693T>G	ENST00000394975.2	-	2	450	c.223A>C	c.(223-225)Atc>Ctc	p.I75L	VKORC1_ENST00000394971.3_Missense_Mutation_p.H106P|VKORC1_ENST00000300851.6_Missense_Mutation_p.H95P|VKORC1_ENST00000498155.1_Missense_Mutation_p.H107P|VKORC1_ENST00000354895.4_Intron|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.I75L|VKORC1_ENST00000319788.7_Missense_Mutation_p.I75L	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	75					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TGATTGAGGATGCTGTCCTGT	0.612																																																0													154	111	126					16																	31104693		2197	4300	6497	SO:0001583	missense	79001				CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"vitamin K dependent clotting factors deficiency 2"	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.223A>C	16.37:g.31104693T>G	ENSP00000378426:p.Ile75Leu		A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	37	CCDS10703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.31|14.31	2.498602|2.498602	0.44455|0.44455	.|.	.|.	ENSG00000167397|ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000300851;ENST00000394971;ENST00000498155|ENST00000319788;ENST00000394975;ENST00000529564	D|D;D;D	0.97620|0.98012	-4.46|-4.44;-4.66;-2.92	6.17|6.17	-10.4|-10.4	0.00318|0.00318	.|Vitamin K epoxide reductase (2);	.|0.960443	.|0.08629	.|N	.|0.917234	D|D	0.90314|0.90314	0.6970|0.6970	N|N	0.16066|0.16066	0.365|0.365	0.09310|0.09310	N|N	1|1	.|B;B	.|0.28850	.|0.225;0.041	.|B;B	.|0.23574	.|0.047;0.034	T|T	0.79145|0.79145	-0.1924|-0.1924	7|10	0.31617|0.05833	T|T	0.26|0.94	-0.6972|-0.6972	15.1369|15.1369	0.72576|0.72576	0.1468:0.6811:0.0:0.172|0.1468:0.6811:0.0:0.172	.|.	.|75;75	.|Q9BQB6-2;Q9BQB6	.|.;VKOR1_HUMAN	P|L	95;106;107|75	ENSP00000300851:H95P|ENSP00000326135:I75L;ENSP00000378426:I75L;ENSP00000431371:I75L	ENSP00000300851:H95P|ENSP00000431371:I75L	H|I	-|-	2|1	0|0	VKORC1|RP11-196G11.1;VKORC1	31012194|31012194	0.001000|0.001000	0.12720|0.12720	0.085000|0.085000	0.20634|0.20634	0.842000|0.842000	0.47809|0.47809	-1.349000|-1.349000	0.02627|0.02627	-1.711000|-1.711000	0.01395|0.01395	-0.290000|-0.290000	0.09829|0.09829	CAT|ATC		0.612	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	NM_024006		G	31104693	T	G	31104693	3	3	430	1	0	0	0	0	1	0	0	0	17177	1464	51	5	276	5	VKORC1	16	31104693	Missense_Mutation	SNP	T	TCGA-BP-5181-01A-01D-1429-08	26022874	31104693	59250060	53	23594											
C16orf78	123970	broad.mit.edu	37	16	49407969	49407969	+	Missense_Mutation	SNP	G	G	A	rs371310295		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:49407969G>A	ENST00000299191.3	+	1	236	c.119G>A	c.(118-120)cGg>cAg	p.R40Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	40						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGGCTGGAGCGGAGGCAGGGG	0.512																																																0								G	GLN/ARG	0,4398		0,0,2199	87	82	83		119	2.7	1	16		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	C16orf78	NM_144602.2	43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	40/266	49407969	1,12997	2199	4300	6499	SO:0001583	missense	123970			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.119G>A	16.37:g.49407969G>A	ENSP00000299191:p.Arg40Gln			Missense_Mutation	SNP	ENST00000299191.3	37	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510839	0.64522	0.0	1.16E-4	ENSG00000166152	ENST00000299191	T	0.60171	0.21	3.66	2.69	0.31865	.	0.162107	0.29165	N	0.012952	T	0.60689	0.2288	L	0.34521	1.04	0.27472	N	0.952843	D	0.89917	1.0	D	0.77004	0.989	T	0.50276	-0.8847	9	.	.	.	-39.3668	8.6951	0.34291	0.0:0.0:0.7744:0.2256	.	40	Q8WTQ4	CP078_HUMAN	Q	40	ENSP00000299191:R40Q	.	R	+	2	0	C16orf78	47965470	1.000000	0.71417	0.993000	0.49108	0.719000	0.41307	3.808000	0.55598	1.111000	0.41721	0.561000	0.74099	CGG		0.512	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		A	49407969	G	A	49407969	3	1	430	1	0	0	0	0	1	0	0	0	1837	1116	39	1	121	1	C16orf78	16	49407969	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08	18303276	49407969	40946784	54	23595											
CCDC102A	92922	broad.mit.edu	37	16	57559847	57559847	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr16:57559847C>G	ENST00000258214.2	-	3	1024	c.778G>C	c.(778-780)Gat>Cat	p.D260H		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	260										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TGGGACTCATCCAGCCGTAGC	0.687																																																0													36	31	32					16																	57559847		2198	4300	6498	SO:0001583	missense	92922			BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.778G>C	16.37:g.57559847C>G	ENSP00000258214:p.Asp260His		Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584710	0.86748	.	.	ENSG00000135736	ENST00000258214	T	0.53423	0.62	5.15	5.15	0.70609	.	0.113950	0.56097	D	0.000032	T	0.68366	0.2993	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.71820	-0.4477	10	0.66056	D	0.02	-29.7838	17.9948	0.89179	0.0:1.0:0.0:0.0	.	260	Q96A19	C102A_HUMAN	H	260	ENSP00000258214:D260H	ENSP00000258214:D260H	D	-	1	0	CCDC102A	56117348	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.425000	0.80255	2.573000	0.86826	0.467000	0.42956	GAT		0.687	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		G	57559847	C	G	57559847	3	3	430	1	0	0	0	0	1	0	0	0	2738	855	30	4	902	4	CCDC102A	16	57559847	Missense_Mutation	SNP	C	TCGA-BP-5181-01A-01D-1429-08	8151878	57559847	32794906	55	23596											
FBXO39	162517	broad.mit.edu	37	17	6690673	6690673	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:6690673G>A	ENST00000321535.4	+	4	1385	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	419										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GACCCTGCAGGAAATTTACAG	0.418																																																0													137	131	133					17																	6690673		2203	4300	6503	SO:0001583	missense	162517			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1255G>A	17.37:g.6690673G>A	ENSP00000321386:p.Glu419Lys			Missense_Mutation	SNP	ENST00000321535.4	37	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844500	0.51164	.	.	ENSG00000177294	ENST00000321535	T	0.13657	2.57	5.23	4.26	0.50523	.	0.281308	0.30714	N	0.009033	T	0.09949	0.0244	N	0.19112	0.55	0.34989	D	0.754796	B	0.26635	0.155	B	0.24155	0.051	T	0.13150	-1.0520	10	0.59425	D	0.04	-11.856	12.2999	0.54868	0.0:0.1703:0.8297:0.0	.	419	Q8N4B4	FBX39_HUMAN	K	419	ENSP00000321386:E419K	ENSP00000321386:E419K	E	+	1	0	FBXO39	6631397	0.999000	0.42202	1.000000	0.80357	0.904000	0.53231	2.239000	0.43079	1.348000	0.45733	0.555000	0.69702	GAA		0.418	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		A	6690673	G	A	6690673	3	1	430	1	0	0	0	0	1	0	0	0	5749	1175	41	2	1265	2	FBXO39	17	6690673	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08		6690673	74504537	56	23597											
SLC5A10	125206	broad.mit.edu	37	17	18916793	18916793	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:18916793C>T	ENST00000395645.3	+	10	1071	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	SLC5A10_ENST00000395647.2_Silent_p.I367I|SLC5A10_ENST00000395642.1_Silent_p.I284I|SLC5A10_ENST00000317977.6_Silent_p.I284I|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Silent_p.I324I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	351					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCTCCAACATCGCCTACCCCA	0.647																																																0													56	49	51					17																	18916793		2203	4300	6503	SO:0001819	synonymous_variant	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1053C>T	17.37:g.18916793C>T			A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																				0.647	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		T	18916793	C	T	18916793	2	4	430	1	0	0	0	0	0	0	0	1	14668	874	31	1		1	SLC5A10	17	18916793	Silent	SNP	C	TCGA-BP-5181-01A-01D-1429-08	12226120	18916793	62278417	57	23598											
DHRS7B	25979	broad.mit.edu	37	17	21087063	21087063	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:21087063G>T	ENST00000395511.3	+	4	786	c.466G>T	c.(466-468)Gtg>Ttg	p.V156L	DHRS7B_ENST00000579303.1_Missense_Mutation_p.V141L|DHRS7B_ENST00000581463.1_5'Flank	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	156						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GGACACCACAGTGGATGTGGA	0.473																																																0													143	116	125					17																	21087063		2203	4300	6503	SO:0001583	missense	25979			BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	24547	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 1"					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.466G>T	17.37:g.21087063G>T	ENSP00000378887:p.Val156Leu		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Missense_Mutation	SNP	ENST00000395511.3	37	CCDS11215.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385747	0.25031	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	D	0.87103	-2.21	5.63	-11.3	0.00108	NAD(P)-binding domain (1);	1.273900	0.05054	N	0.478656	T	0.61022	0.2314	N	0.01729	-0.75	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.57728	-0.7761	10	0.06494	T	0.89	.	11.7984	0.52112	0.2648:0.4303:0.3049:0.0	.	156	Q6IAN0	DRS7B_HUMAN	L	156	ENSP00000378887:V156L	ENSP00000320352:V156L	V	+	1	0	DHRS7B	21027655	0.000000	0.05858	0.000000	0.03702	0.989000	0.77384	-0.584000	0.05800	-1.606000	0.01591	-0.310000	0.09108	GTG		0.473	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510		T	21087063	G	T	21087063	3	4	430	1	0	0	0	0	1	0	0	0	4498	1029	36	4	480	4	DHRS7B	17	21087063	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08	2170270	21087063	60108147	58	23599											
COX11	1353	broad.mit.edu	37	17	53042201	53042201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr17:53042201C>A	ENST00000299335.3	-	2	517	c.379G>T	c.(379-381)Gga>Tga	p.G127*	COX11_ENST00000571584.1_Nonsense_Mutation_p.G127*	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	127					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						GCTGATCCTCCAAGTCCAGTA	0.328																																																0													86	78	81					17																	53042201		2203	4300	6503	SO:0001587	stop_gained	1353			AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"Mitochondrial respiratory chain complex assembly factors"	2261	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit 11", "cytochrome c oxidase assembly protein COX11"	603648	"COX11 (yeast) homolog, cytochrome c oxidase assembly protein", "COX11 cytochrome c oxidase assembly homolog (yeast)"			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.379G>T	17.37:g.53042201C>A	ENSP00000299335:p.Gly127*		D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Nonsense_Mutation	SNP	ENST00000299335.3	37	CCDS11583.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438814	0.96168	.	.	ENSG00000166260	ENST00000299335	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.7084	16.3986	0.83631	0.0:1.0:0.0:0.0	.	.	.	.	X	127	.	ENSP00000299335:G127X	G	-	1	0	COX11	50397200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.805000	0.96524	0.655000	0.94253	GGA		0.328	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375		A	53042201	C	A	53042201	4	1	430	1	0	0	0	0	0	1	0	0	3765	603	21	4	529	4	COX11	17	53042201	Nonsense_Mutation	SNP	C	TCGA-BP-5181-01A-01D-1429-08	31955138	53042201	28153009	59	23600											
CEP192	55125	broad.mit.edu	37	18	13056677	13056677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr18:13056677C>A	ENST00000325971.8	+	17	3893	c.2300C>A	c.(2299-2301)tCa>tAa	p.S767*	CEP192_ENST00000430049.2_Nonsense_Mutation_p.S888*|CEP192_ENST00000506447.1_Nonsense_Mutation_p.S1363*			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	767					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCATGGGATTCAGGAGTGACA	0.373																																																0													136	141	139					18																	13056677		2202	4300	6502	SO:0001587	stop_gained	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2300C>A	18.37:g.13056677C>A	ENSP00000317156:p.Ser767*		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Nonsense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	C	38	7.242864	0.98157	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	.	.	.	4.94	4.94	0.65067	.	0.161766	0.29956	N	0.010769	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3466	7.6708	0.28457	0.1658:0.7436:0.0:0.0906	.	.	.	.	X	1363;767;767;888	.	ENSP00000317156:S767X	S	+	2	0	CEP192	13046677	0.943000	0.32029	1.000000	0.80357	0.732000	0.41865	1.785000	0.38684	2.286000	0.76751	0.655000	0.94253	TCA		0.373	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		A	13056677	C	A	13056677	4	1	430	1	0	0	0	0	0	1	0	0	3253	838	29	4	4158	4	CEP192	18	13056677	Nonsense_Mutation	SNP	C	TCGA-BP-5181-01A-01D-1429-08		13056677	65020571	60	23601											
LRG1	116844	broad.mit.edu	37	19	4538076	4538079	+	Frame_Shift_Del	DEL	AGGT	AGGT	-			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:4538076_4538079delAGGT	ENST00000306390.6	-	2	1377_1380	c.917_920delACCT	c.(916-921)aacctgfs	p.NL306fs	PLIN5_ENST00000586133.1_5'Flank|PLIN5_ENST00000381848.3_5'Flank|LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	306	LRRCT.	Not glycosylated.			brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGTCGCTCAGGTTCTGGTCACA	0.608																																																0																																										SO:0001589	frameshift_variant	116844				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.917_920delACCT	19.37:g.4538076_4538079delAGGT	ENSP00000302621:p.Asn306fs		Q8N4F5|Q96QZ4	Frame_Shift_Del	DEL	ENST00000306390.6	37	CCDS12130.1																																																																																				0.608	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		-	4538079	AGGT	-	4538076	7	5	430	1	0	1	0	1	0	0	0	0	8944	188	7	0	127	0	LRG1	19	4538076	Frame_Shift_Del	DEL	AGGT	TCGA-BP-5181-01A-01D-1429-08		4538076	54590907	61	23602											
MLLT1	4298	broad.mit.edu	37	19	6216490	6216490	+	Silent	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:6216490G>C	ENST00000252674.7	-	8	1396	c.1233C>G	c.(1231-1233)tcC>tcG	p.S411S	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	411					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CGGACTCCTCGGACTGCAGGT	0.716			T	MLL	AL																																		Dom	yes		19	19p13.3	4298	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"		L	0													19	18	18					19																	6216490		2200	4296	6496	SO:0001819	synonymous_variant	4298				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1233C>G	19.37:g.6216490G>C			Q14768	Silent	SNP	ENST00000252674.7	37	CCDS12160.1																																																																																				0.716	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		C	6216490	G	C	6216490	2	2	430	1	0	0	0	0	0	0	0	1	9627	1103	39	4		4	MLLT1	19	6216490	Silent	SNP	G	TCGA-BP-5181-01A-01D-1429-08	1678414	6216490	52912493	62	23603											
RAB8A	4218	broad.mit.edu	37	19	16240402	16240402	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:16240402G>C	ENST00000300935.3	+	7	792	c.519G>C	c.(517-519)atG>atC	p.M173I	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.G167R|CTD-2231E14.8_ENST00000599676.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	173					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						AAGCAAAAATGGACAAAAAAT	0.517																																																0													148	146	147					19																	16240402		2203	4300	6503	SO:0001583	missense	4218				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"RAB, member RAS oncogene"	7007	protein-coding gene	gene with protein product		165040	"mel transforming oncogene (derived from cell line NK14)"	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.519G>C	19.37:g.16240402G>C	ENSP00000300935:p.Met173Ile		B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	ENST00000300935.3	37	CCDS12339.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149779	0.57151	.	.	ENSG00000167461	ENST00000300935	T	0.79141	-1.24	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	N	0.19112	0.55	0.34072	D	0.658591	B	0.02656	0.0	B	0.04013	0.001	T	0.71705	-0.4512	10	0.56958	D	0.05	.	15.9005	0.79373	0.0:0.0:1.0:0.0	.	173	P61006	RAB8A_HUMAN	I	173	ENSP00000300935:M173I	ENSP00000300935:M173I	M	+	3	0	RAB8A	16101402	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.611000	0.98342	2.087000	0.62958	0.491000	0.48974	ATG		0.517	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	NM_005370		C	16240402	G	C	16240402	3	2	430	1	0	0	0	0	1	0	0	0	12962	1348	47	4	545	4	RAB8A	19	16240402	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08	10023912	16240402	42888581	63	23604	176	2									
RAB8A	4218	broad.mit.edu	37	19	16240404	16240404	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:16240404A>T	ENST00000300935.3	+	7	794	c.521A>T	c.(520-522)gAc>gTc	p.D174V	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Silent_p.G167G|CTD-2231E14.8_ENST00000599676.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	174					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						GCAAAAATGGACAAAAAATTG	0.517																																																0													145	144	144					19																	16240404		2203	4300	6503	SO:0001583	missense	4218				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"RAB, member RAS oncogene"	7007	protein-coding gene	gene with protein product		165040	"mel transforming oncogene (derived from cell line NK14)"	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.521A>T	19.37:g.16240404A>T	ENSP00000300935:p.Asp174Val		B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	ENST00000300935.3	37	CCDS12339.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006486	0.54361	.	.	ENSG00000167461	ENST00000300935	T	0.78707	-1.2	4.56	4.56	0.56223	.	0.047497	0.85682	D	0.000000	T	0.65460	0.2693	N	0.19112	0.55	0.80722	D	1	B	0.16603	0.018	B	0.20955	0.032	T	0.64300	-0.6440	10	0.62326	D	0.03	.	12.7446	0.57273	1.0:0.0:0.0:0.0	.	174	P61006	RAB8A_HUMAN	V	174	ENSP00000300935:D174V	ENSP00000300935:D174V	D	+	2	0	RAB8A	16101404	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.097000	0.94193	1.696000	0.51158	0.402000	0.26972	GAC		0.517	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	NM_005370		T	16240404	A	T	16240404	3	4	430	1	0	0	0	0	1	0	0	0	12962	275	10	5	547	5	RAB8A	19	16240404	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08	2	16240404	42888579	64	23605	176	2									
SIPA1L3	23094	broad.mit.edu	37	19	38633283	38633283	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:38633283C>A	ENST00000222345.6	+	12	3975	c.3466C>A	c.(3466-3468)Cag>Aag	p.Q1156K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1156					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCTACCGACAGCCTTCTGG	0.577											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													208	201	204					19																	38633283		2203	4300	6503	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3466C>A	19.37:g.38633283C>A	ENSP00000222345:p.Gln1156Lys	879	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393345	0.42410	.	.	ENSG00000105738	ENST00000222345	T	0.75589	-0.95	4.82	4.82	0.62117	.	0.740820	0.12746	N	0.442635	T	0.64148	0.2572	L	0.29908	0.895	0.39787	D	0.97238	B	0.26318	0.146	B	0.19148	0.024	T	0.58719	-0.7587	10	0.21014	T	0.42	-31.0282	16.8295	0.85940	0.0:1.0:0.0:0.0	.	1156	O60292	SI1L3_HUMAN	K	1156	ENSP00000222345:Q1156K	ENSP00000222345:Q1156K	Q	+	1	0	SIPA1L3	43325123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.118000	0.50414	2.506000	0.84524	0.563000	0.77884	CAG		0.577	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		A	38633283	C	A	38633283	3	1	430	1	0	0	0	0	1	0	0	0	14337	479	17	4	3504	4	SIPA1L3	19	38633283	Missense_Mutation	SNP	C	TCGA-BP-5181-01A-01D-1429-08	22392879	38633283	20495700	65	23606											
CEACAM1	634	broad.mit.edu	37	19	43031337	43031337	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:43031337C>T	ENST00000161559.6	-	2	414	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	94	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCGCTGTTTGCGGGCCCTGGG	0.488																																																0													318	269	285					19																	43031337		2203	4300	6503	SO:0001583	missense	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.280G>A	19.37:g.43031337C>T	ENSP00000161559:p.Ala94Thr		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	c	17.48	3.399601	0.62177	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.41	1.97	0.26223	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75324	0.3834	M	0.83953	2.67	0.09310	N	1	D;D;B;P;P;P;P;P;D;P	0.59767	0.972;0.986;0.399;0.648;0.777;0.604;0.686;0.862;0.959;0.936	P;P;B;B;P;B;P;P;P;P	0.58210	0.593;0.835;0.241;0.296;0.506;0.407;0.597;0.628;0.689;0.745	T	0.65998	-0.6032	9	0.66056	D	0.02	.	11.6699	0.51395	0.0:0.5466:0.4534:0.0	.	94;94;94;94;94;94;94;94;94;94	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	T	94;94;94;121;54;94;94;94;54;94;94;94	ENSP00000161559:A94T;ENSP00000351165:A94T;ENSP00000325946:A94T;ENSP00000244291:A94T;ENSP00000384709:A94T;ENSP00000384083:A94T;ENSP00000312184:A54T	ENSP00000161559:A94T	A	-	1	0	CEACAM1	47723177	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.054000	0.11826	0.425000	0.26087	0.561000	0.74099	GCA		0.488	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		T	43031337	C	T	43031337	3	4	430	1	0	0	0	0	1	0	0	0	3189	768	27	1	1429	1	CEACAM1	19	43031337	Missense_Mutation	SNP	C	TCGA-BP-5181-01A-01D-1429-08	4398054	43031337	16097646	66	23607											
SIGLEC11	114132	broad.mit.edu	37	19	50453230	50453230	+	Silent	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr19:50453230C>T	ENST00000447370.2	-	11	2184	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K	CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA|SIGLEC11_ENST00000426971.2_Silent_p.K602K	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	698					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GACCTCTTCACTTTGGAACCA	0.567																																																0													27	24	25					19																	50453230		2201	4300	6501	SO:0001819	synonymous_variant	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.2094G>A	19.37:g.50453230C>T				Silent	SNP	ENST00000447370.2	37	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	1.794	-0.478883	0.04414	.	.	ENSG00000161640	ENST00000426971	.	.	.	2.67	0.319	0.15873	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25813	-1.0121	4	.	.	.	.	5.4789	0.16713	0.0:0.6911:0.0:0.3089	.	.	.	.	N	592	.	.	S	-	2	0	SIGLEC11	55145042	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.200000	0.09478	0.002000	0.14630	-0.140000	0.14226	AGT		0.567	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		T	50453230	C	T	50453230	2	4	430	1	0	0	0	0	0	0	0	1	14313	564	20	2		2	SIGLEC11	19	50453230	Silent	SNP	C	TCGA-BP-5181-01A-01D-1429-08	7421893	50453230	8675753	67	23608											
C20orf186	149954	broad.mit.edu	37	20	31671202	31671202	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr20:31671202C>T	ENST00000375483.3	+	3	199	c.199C>T	c.(199-201)Cat>Tat	p.H67Y		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	67						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CAATGACTTCCATGTCCGAGG	0.498																																																0													91	90	91					20																	31671202		2203	4300	6503	SO:0001583	missense	149954			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.199C>T	20.37:g.31671202C>T	ENSP00000364632:p.His67Tyr		Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	c	4.413	0.076346	0.08485	.	.	ENSG00000186191	ENST00000375483	T	0.01397	4.94	2.89	2.89	0.33648	.	0.232356	0.21589	U	0.072135	T	0.01222	0.0040	L	0.27053	0.805	0.19300	N	0.999971	B	0.31949	0.348	B	0.22152	0.038	T	0.50021	-0.8876	10	0.72032	D	0.01	-0.0891	9.3529	0.38149	0.0:1.0:0.0:0.0	.	67	P59827	BPIB4_HUMAN	Y	67	ENSP00000364632:H67Y	ENSP00000364632:H67Y	H	+	1	0	BPIFB4	31134863	0.908000	0.30866	0.597000	0.28824	0.005000	0.04900	3.146000	0.50631	1.607000	0.50170	0.306000	0.20318	CAT		0.498	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		T	31671202	C	T	31671202	3	4	430	1	0	0	0	0	1	0	0	0	2100	594	21	2	209	2	C20orf186	20	31671202	Missense_Mutation	SNP	C	TCGA-BP-5181-01A-01D-1429-08		31671202	31354318	68	23609											
ZMYND8	23613	broad.mit.edu	37	20	45905190	45905190	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr20:45905190G>A	ENST00000311275.7	-	11	1541	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425S	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	430					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGGAGCGCGGCATATCCGAC	0.597																																																0													77	66	70					20																	45905190		2203	4300	6503	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1288C>T	20.37:g.45905190G>A	ENSP00000312237:p.Pro430Ser		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151142|3.151142	0.57151|0.57151	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.96459	.|-3.03;-2.85;-2.93;-2.97;-2.91;-2.94;-3.0;-2.91;-2.88;-4.02;-3.0;-3.04;-1.76	5.51|5.51	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97294|0.97294	0.9115|0.9115	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999995|0.999995	.|D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	.|0.89917	.|0.998;0.909;1.0;1.0;1.0;1.0;0.997;1.0;0.997;0.995;1.0;1.0;1.0;1.0;1.0;0.767;0.998;0.998	.|D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;B;D;D	.|0.97110	.|0.984;0.863;1.0;1.0;1.0;1.0;0.98;0.999;0.973;0.98;0.999;1.0;1.0;1.0;1.0;0.359;0.984;0.994	D|D	0.96629|0.96629	0.9465|0.9465	5|10	.|0.33940	.|T	.|0.23	-16.235|-16.235	15.6606|15.6606	0.77186|0.77186	0.0:0.0:0.8617:0.1383|0.0:0.0:0.8617:0.1383	.|.	.|425;457;425;425;405;424;450;430;425;450;450;430;367;425;425;450;425;430	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	V|S	356|425;430;425;430;450;450;430;457;430;367;450;425;425	.|ENSP00000354166:P425S;ENSP00000312237:P430S;ENSP00000392964:P425S;ENSP00000262975:P430S;ENSP00000420095:P450S;ENSP00000335537:P450S;ENSP00000379577:P430S;ENSP00000439800:P457S;ENSP00000348246:P430S;ENSP00000396725:P367S;ENSP00000418210:P450S;ENSP00000361093:P425S;ENSP00000443086:P425S	.|ENSP00000262975:P430S	A|P	-|-	2|1	0|0	ZMYND8|ZMYND8	45338597|45338597	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.328000|0.328000	0.28507|0.28507	9.338000|9.338000	0.96553|0.96553	1.305000|1.305000	0.44909|0.44909	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.597	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		A	45905190	G	A	45905190	3	1	430	1	0	0	0	0	1	0	0	0	17716	1203	42	2	2270	2	ZMYND8	20	45905190	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08	14233988	45905190	17120330	69	23610											
PRDM15	63977	broad.mit.edu	37	21	43281766	43281766	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr21:43281766A>G	ENST00000269844.3	-	7	907	c.797T>C	c.(796-798)gTg>gCg	p.V266A	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000447207.2_5'Flank|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTGATTCCACACGCCCTCCAC	0.532																																																0													118	95	103					21																	43281766		2203	4300	6503	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.797T>C	21.37:g.43281766A>G	ENSP00000269844:p.Val266Ala		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	A	8.577	0.881402	0.17467	.	.	ENSG00000141956	ENST00000269844	T	0.10382	2.88	2.42	-0.328	0.12690	.	.	.	.	.	T	0.04724	0.0128	N	0.08118	0	0.09310	N	0.999991	B	0.09022	0.002	B	0.09377	0.004	T	0.38222	-0.9671	9	0.72032	D	0.01	.	2.9021	0.05709	0.4831:0.2619:0.0:0.255	.	266	P57071	PRD15_HUMAN	A	266	ENSP00000269844:V266A	ENSP00000269844:V266A	V	-	2	0	PRDM15	42154835	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.918000	0.04021	-0.060000	0.13132	0.459000	0.35465	GTG		0.532	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		G	43281766	A	G	43281766	3	3	430	1	0	0	0	0	1	0	0	0	12461	159	6	3	3826	3	PRDM15	21	43281766	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08		43281766	4848129	70	23611											
PCNT	5116	broad.mit.edu	37	21	47776974	47776974	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr21:47776974A>T	ENST00000359568.5	+	13	2129	c.2022A>T	c.(2020-2022)gaA>gaT	p.E674D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	674	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGGGTCTGGAAACTGAGCACA	0.498																																																0													67	70	69					21																	47776974		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2022A>T	21.37:g.47776974A>T	ENSP00000352572:p.Glu674Asp		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529561	0.44969	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.02280	4.36	4.83	4.83	0.62350	.	.	.	.	.	T	0.06142	0.0159	L	0.40543	1.245	0.26582	N	0.973364	D;D	0.64830	0.994;0.989	D;P	0.67103	0.949;0.89	T	0.37820	-0.9689	9	0.37606	T	0.19	.	7.3071	0.26453	0.9003:0.0:0.0997:0.0	.	556;674	O95613-2;O95613	.;PCNT_HUMAN	D	674;661	ENSP00000352572:E674D	ENSP00000338675:E661D	E	+	3	2	PCNT	46601402	0.985000	0.35326	0.532000	0.27989	0.112000	0.19704	2.146000	0.42216	1.810000	0.52873	0.459000	0.35465	GAA		0.498	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		T	47776974	A	T	47776974	3	4	430	1	0	0	0	0	1	0	0	0	11592	11	1	5	2072	5	PCNT	21	47776974	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08	4495208	47776974	352921	71	23612											
SREBF2	6721	broad.mit.edu	37	22	42294664	42294664	+	Missense_Mutation	SNP	A	A	G	rs375253567		TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr22:42294664A>G	ENST00000361204.4	+	15	2783	c.2617A>G	c.(2617-2619)Atc>Gtc	p.I873V	MIR33A_ENST00000385197.1_RNA|SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	873					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCCAGACATCATCTGTCGGTG	0.562																																																0								A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	134	112	119		2617	-2.6	0.2	22		119	2,8598	2.2+/-6.3	0,2,4298	no	missense	SREBF2	NM_004599.2	29	0,3,6500	GG,GA,AA		0.0233,0.0227,0.0231	benign	873/1142	42294664	3,13003	2203	4300	6503	SO:0001583	missense	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2617A>G	22.37:g.42294664A>G	ENSP00000354476:p.Ile873Val		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	A	1.898	-0.453800	0.04540	2.27E-4	2.33E-4	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.05786	3.39	5.42	-2.6	0.06190	.	0.439888	0.26704	N	0.022927	T	0.01976	0.0062	N	0.01874	-0.695	0.22050	N	0.99939	B	0.02656	0.0	B	0.04013	0.001	T	0.40136	-0.9579	10	0.02654	T	1	-13.3023	14.7967	0.69884	0.3964:0.0:0.6036:0.0	.	873	Q12772	SRBP2_HUMAN	V	873	ENSP00000354476:I873V	ENSP00000354476:I873V	I	+	1	0	SREBF2	40624610	0.845000	0.29573	0.188000	0.23233	0.994000	0.84299	0.243000	0.18106	-0.903000	0.03881	0.533000	0.62120	ATC		0.562	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		G	42294664	A	G	42294664	3	3	430	1	0	0	0	0	1	0	0	0	15147	217	8	3	2675	3	SREBF2	22	42294664	Missense_Mutation	SNP	A	TCGA-BP-5181-01A-01D-1429-08		42294664	9009902	72	23613											
TCF20	6942	broad.mit.edu	37	22	42605832	42605832	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5181-01A-01D-1429-08	TCGA-BP-5181-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae20006-17ea-4a07-8e85-4cfa213a0951	6d0ac19f-1246-4895-8592-cd25ce28cce6	g.chr22:42605832G>T	ENST00000359486.3	-	1	5616	c.5480C>A	c.(5479-5481)tCc>tAc	p.S1827Y	TCF20_ENST00000404876.1_Missense_Mutation_p.S128Y|TCF20_ENST00000335626.4_Missense_Mutation_p.S1827Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1827					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGGGCACGGAGGGCTTCGA	0.542																																																0													121	123	122					22																	42605832		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5480C>A	22.37:g.42605832G>T	ENSP00000352463:p.Ser1827Tyr		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622247	0.28889	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.69806	0.19;0.19;-0.43	6.07	5.05	0.67936	.	0.630562	0.15682	N	0.249856	T	0.68100	0.2964	L	0.47716	1.5	0.41198	D	0.986359	P;P	0.41265	0.744;0.628	P;B	0.45856	0.495;0.299	T	0.70226	-0.4930	10	0.62326	D	0.03	-1.1406	15.2306	0.73383	0.0:0.1558:0.8442:0.0	.	1827;1827	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	1827;1827;128	ENSP00000352463:S1827Y;ENSP00000335561:S1827Y;ENSP00000385531:S128Y	ENSP00000335561:S1827Y	S	-	2	0	TCF20	40935776	1.000000	0.71417	0.429000	0.26710	0.636000	0.38137	4.170000	0.58229	1.568000	0.49683	0.655000	0.94253	TCC		0.542	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		T	42605832	G	T	42605832	3	4	430	1	0	0	0	0	1	0	0	0	15695	1174	41	4	440	4	TCF20	22	42605832	Missense_Mutation	SNP	G	TCGA-BP-5181-01A-01D-1429-08	311168	42605832	8698734	73	23614											
SPSB1	80176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	9416147	9416147	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr1:9416147T>C	ENST00000328089.6	+	2	538	c.197T>C	c.(196-198)tTt>tCt	p.F66S	SPSB1_ENST00000377399.2_Missense_Mutation_p.F66S|SPSB1_ENST00000357898.3_Missense_Mutation_p.F66S	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	66	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.F66S(1)		breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CTCAATGTCTTTGTGAAGGAG	0.577																																																1	Substitution - Missense(1)	kidney(1)											174	168	170					1																	9416147		2203	4300	6503	SO:0001583	missense	80176				CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.197T>C	1.37:g.9416147T>C	ENSP00000330221:p.Phe66Ser		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Missense_Mutation	SNP	ENST00000328089.6	37	CCDS102.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056308	0.55325	.	.	ENSG00000171621	ENST00000328089;ENST00000450402;ENST00000357898;ENST00000377399	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.90650	3.135	0.80722	D	1	D	0.71674	0.998	P	0.60345	0.873	T	0.68812	-0.5310	10	0.23302	T	0.38	-12.0094	14.473	0.67529	0.0:0.0:0.0:1.0	.	66	Q96BD6	SPSB1_HUMAN	S	66	ENSP00000330221:F66S;ENSP00000409235:F66S;ENSP00000350573:F66S;ENSP00000366616:F66S	ENSP00000330221:F66S	F	+	2	0	SPSB1	9338734	1.000000	0.71417	0.979000	0.43373	0.497000	0.33675	6.237000	0.72345	2.011000	0.59026	0.533000	0.62120	TTT		0.577	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		C	9416147	T	C	9416147	3	2	431	1	0	0	0	0	1	0	0	0	15117	1841	64	3	199	3	SPSB1	1	9416147	Missense_Mutation	SNP	T	TCGA-BP-5182-01A-01D-1429-08		9416147	239834474	1	23615											
UBE4B	10277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10166557	10166557	+	Missense_Mutation	SNP	G	G	A	rs375249164		TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr1:10166557G>A	ENST00000343090.6	+	7	1187	c.1112G>A	c.(1111-1113)aGg>aAg	p.R371K	UBE4B_ENST00000253251.8_Intron|UBE4B_ENST00000377157.3_Intron	NM_001105562.2	NP_001099032.1			ubiquitination factor E4B									p.R371K(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCCAGACAGAGGCCCAGCAGC	0.657																																																1	Substitution - Missense(1)	kidney(1)						G	,LYS/ARG	0,4192		0,0,2096	51	61	58		,1112	4.5	1	1		58	1,8423		0,1,4211	no	intron,missense	UBE4B	NM_006048.4,NM_001105562.2	,26	0,1,6307	AA,AG,GG		0.0119,0.0,0.0079	,benign	,371/1303	10166557	1,12615	2096	4212	6308	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000343090.6:c.1112G>A	1.37:g.10166557G>A	ENSP00000343001:p.Arg371Lys			Missense_Mutation	SNP	ENST00000343090.6	37	CCDS41245.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516653	0.64634	0.0	1.19E-4	ENSG00000130939	ENST00000343090	T	0.46451	0.87	5.47	4.5	0.54988	.	0.132353	0.49305	D	0.000145	T	0.26521	0.0648	N	0.22421	0.69	0.80722	D	1	B	0.19200	0.034	B	0.14578	0.011	T	0.07635	-1.0762	10	0.02654	T	1	-17.1849	16.0805	0.81003	0.0:0.1338:0.8662:0.0	.	371	O95155	UBE4B_HUMAN	K	371	ENSP00000343001:R371K	ENSP00000343001:R371K	R	+	2	0	UBE4B	10089144	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.900000	0.56295	2.735000	0.93741	0.655000	0.94253	AGG		0.657	UBE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005016.1	NM_006048		A	10166557	G	A	10166557	3	1	431	1	0	0	0	0	1	0	0	0	16888	1000	35	2	1138	2	UBE4B	1	10166557	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	750410	10166557	239084064	2	23616											
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16199600	16199600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr1:16199600C>T	ENST00000375759.3	+	2	577	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	125	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R125*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACTTCATGCACGAGAAGGACG	0.463																																																1	Substitution - Nonsense(1)	kidney(1)											93	80	84					1																	16199600		2203	4300	6503	SO:0001587	stop_gained	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.373C>T	1.37:g.16199600C>T	ENSP00000364912:p.Arg125*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726429	0.96847	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1083	19.3121	0.94192	0.0:1.0:0.0:0.0	.	.	.	.	X	125	.	ENSP00000364912:R125X	R	+	1	2	SPEN	16072187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.983000	0.70540	2.578000	0.87016	0.555000	0.69702	CGA		0.463	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		T	16199600	C	T	16199600	4	4	431	1	0	0	0	0	0	1	0	0	15043	528	19	1	379	1	SPEN	1	16199600	Nonsense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08	6033043	16199600	233051021	3	23617											
USP48	84196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22032286	22032286	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr1:22032286G>A	ENST00000308271.9	-	19	2966	c.2318C>T	c.(2317-2319)gCt>gTt	p.A773V	USP48_ENST00000400301.1_Missense_Mutation_p.A773V|USP48_ENST00000529637.1_Missense_Mutation_p.A785V|USP48_ENST00000374732.3_Missense_Mutation_p.A311V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	773	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.A773V(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ACACAAAAGAGCACTGTTCCC	0.418																																																1	Substitution - Missense(1)	kidney(1)											71	74	73					1																	22032286		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2318C>T	1.37:g.22032286G>A	ENSP00000309262:p.Ala773Val		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682154	0.29872	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T	0.04758	3.56;3.56;3.56	5.7	5.7	0.88788	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.206931	0.46758	D	0.000268	T	0.04724	0.0128	L	0.44542	1.39	0.35103	D	0.765385	B;B;B;B;B	0.28933	0.177;0.012;0.228;0.146;0.225	B;B;B;B;B	0.26969	0.032;0.003;0.075;0.023;0.047	T	0.32375	-0.9909	10	0.11182	T	0.66	.	10.3321	0.43829	0.1493:0.0:0.8507:0.0	.	785;773;773;773;311	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	V	773;773;311;785	ENSP00000383157:A773V;ENSP00000309262:A773V;ENSP00000431949:A785V	ENSP00000309262:A773V	A	-	2	0	USP48	21904873	1.000000	0.71417	0.985000	0.45067	0.664000	0.39144	4.779000	0.62375	2.697000	0.92050	0.557000	0.71058	GCT		0.418	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		A	22032286	G	A	22032286	3	1	431	1	0	0	0	0	1	0	0	0	17084	971	34	2	825	2	USP48	1	22032286	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	5832686	22032286	227218335	4	23618											
DCDC2B	149069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32678141	32678141	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr1:32678141C>G	ENST00000409358.1	+	5	578	c.578C>G	c.(577-579)aCt>aGt	p.T193S		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	193	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)			p.T193S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAGCTGGTAACTGGCCATTAC	0.587																																																1	Substitution - Missense(1)	kidney(1)											68	74	72					1																	32678141		1985	4161	6146	SO:0001583	missense	149069			BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.578C>G	1.37:g.32678141C>G	ENSP00000386870:p.Thr193Ser		B7ZBC6	Missense_Mutation	SNP	ENST00000409358.1	37	CCDS44100.1	.	.	.	.	.	.	.	.	.	.	C	1.442	-0.567344	0.03910	.	.	ENSG00000222046	ENST00000409358	D	0.85702	-2.02	5.3	-6.0	0.02206	Doublecortin domain (5);	.	.	.	.	T	0.54711	0.1875	N	0.00823	-1.155	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.52808	-0.8526	9	0.16420	T	0.52	.	9.3293	0.38012	0.586:0.1844:0.2296:0.0	.	193	A2VCK2	DCD2B_HUMAN	S	193	ENSP00000386870:T193S	ENSP00000386870:T193S	T	+	2	0	DCDC2B	32450728	0.011000	0.17503	0.063000	0.19743	0.150000	0.21749	0.151000	0.16283	-0.996000	0.03455	-0.839000	0.03059	ACT		0.587	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		G	32678141	C	G	32678141	3	3	431	1	0	0	0	0	1	0	0	0	4288	565	20	4	596	4	DCDC2B	1	32678141	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08	10645855	32678141	216572480	5	23619											
DENND2D	79961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111734927	111734927	+	Silent	SNP	C	C	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr1:111734927C>T	ENST00000357640.4	-	8	1036	c.807G>A	c.(805-807)caG>caA	p.Q269Q	DENND2D_ENST00000473682.1_5'Flank|DENND2D_ENST00000369752.5_Silent_p.Q266Q	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	269	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q269Q(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CATGGATGCACTGAGACAAGG	0.622																																																1	Substitution - coding silent(1)	kidney(1)											62	53	56					1																	111734927		2203	4300	6503	SO:0001819	synonymous_variant	79961				CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.807G>A	1.37:g.111734927C>T			Q5T5V6|Q9BSU0	Silent	SNP	ENST00000357640.4	37	CCDS831.1																																																																																				0.622	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		T	111734927	C	T	111734927	2	4	431	1	0	0	0	0	0	0	0	1	4433	564	20	2		2	DENND2D	1	111734927	Silent	SNP	C	TCGA-BP-5182-01A-01D-1429-08	79056786	111734927	137515694	6	23620											
KIF14	9928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200562851	200562851	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr1:200562851C>T	ENST00000367350.4	-	15	3034	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	866	FHA.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|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)|PDZ domain binding (GO:0030165)	p.E866K(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTCTTTGCTTCCCCAACTGGG	0.328																																																1	Substitution - Missense(1)	kidney(1)											183	163	170					1																	200562851		2203	4300	6503	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2596G>A	1.37:g.200562851C>T	ENSP00000356319:p.Glu866Lys		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223010	0.58668	.	.	ENSG00000118193	ENST00000367350	D	0.85258	-1.96	5.15	5.15	0.70609	Forkhead-associated (FHA) domain (3);SMAD/FHA domain (1);	0.182120	0.47852	D	0.000219	D	0.83889	0.5352	L	0.52011	1.625	0.39754	D	0.971924	B	0.24618	0.107	B	0.29077	0.098	T	0.82242	-0.0554	10	0.51188	T	0.08	.	18.6098	0.91281	0.0:1.0:0.0:0.0	.	866	Q15058	KIF14_HUMAN	K	866	ENSP00000356319:E866K	ENSP00000356319:E866K	E	-	1	0	KIF14	198829474	1.000000	0.71417	0.942000	0.38095	0.754000	0.42855	4.812000	0.62613	2.374000	0.81015	0.563000	0.77884	GAA		0.328	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		T	200562851	C	T	200562851	3	4	431	1	0	0	0	0	1	0	0	0	8278	864	30	2	2414	2	KIF14	1	200562851	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08	88827924	200562851	48687770	7	23621											
KIF21B	23046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200959172	200959172	+	Splice_Site	SNP	C	C	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr1:200959172C>T	ENST00000422435.2	-	21	3347		c.e21-1		KIF21B_ENST00000461742.2_Splice_Site|KIF21B_ENST00000360529.5_Splice_Site|KIF21B_ENST00000332129.2_Splice_Site	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCAGCTCCTCCTAGGACCGGG	0.647																																																1	Unknown(1)	kidney(1)											55	54	55					1																	200959172		2203	4300	6503	SO:0001630	splice_region_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3031-1G>A	1.37:g.200959172C>T			B2RP62|B7ZMI0|Q5T4J3	Splice_Site	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458377	0.84317	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1472	0.89661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21B	199225795	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.688000	0.84153	2.280000	0.76307	0.655000	0.94253	.		0.647	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	Intron	T	200959172	C	T	200959172	5	4	431	1	0	0	0	0	0	0	1	0	8291	695	24	2	1900	2	KIF21B	1	200959172	Splice_Site	SNP	C	TCGA-BP-5182-01A-01D-1429-08	396321	200959172	48291449	8	23622											
TRAF5	7188	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	211545849	211545849	+	Silent	SNP	G	G	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr1:211545849G>A	ENST00000261464.5	+	11	1533	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K	TRAF5_ENST00000336184.2_Silent_p.K493K|TRAF5_ENST00000427925.2_Silent_p.K387K|TRAF5_ENST00000367004.3_Silent_p.K493K	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	493	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K493K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GTGGCAAAAAGAACATTATGG	0.507																																																1	Substitution - coding silent(1)	kidney(1)											97	87	90					1																	211545849		2203	4300	6503	SO:0001819	synonymous_variant	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1479G>A	1.37:g.211545849G>A			B4DIS9|B4E0A2|Q6FHY1	Silent	SNP	ENST00000261464.5	37	CCDS1497.1																																																																																				0.507	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		A	211545849	G	A	211545849	2	1	431	1	0	0	0	0	0	0	0	1	16449	933	33	2		2	TRAF5	1	211545849	Silent	SNP	G	TCGA-BP-5182-01A-01D-1429-08	10586677	211545849	37704772	9	23623											
ARHGAP25	9938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	69045086	69045086	+	Silent	SNP	C	C	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr2:69045086C>A	ENST00000295381.3	+	8	1379	c.960C>A	c.(958-960)ctC>ctA	p.L320L	ARHGAP25_ENST00000497079.1_Silent_p.L314L|ARHGAP25_ENST00000479844.1_Silent_p.L14L|ARHGAP25_ENST00000467265.1_Silent_p.L281L|ARHGAP25_ENST00000409220.1_Silent_p.L314L|ARHGAP25_ENST00000409202.3_Silent_p.L321L|ARHGAP25_ENST00000409030.3_Silent_p.L313L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	320	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L314L(1)|p.L321L(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGTGAATCTCATCAGGTCGA	0.473																																																2	Substitution - coding silent(2)	kidney(2)											174	157	163					2																	69045086		2203	4300	6503	SO:0001819	synonymous_variant	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.960C>A	2.37:g.69045086C>A			A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	C	10.18	1.278787	0.23307	.	.	ENSG00000163219	ENST00000497259	.	.	.	5.32	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1491	0.03795	0.1385:0.5058:0.1341:0.2216	.	.	.	.	X	180	.	.	S	+	2	0	ARHGAP25	68898590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.004000	0.29822	0.388000	0.25054	0.650000	0.86243	TCA		0.473	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		A	69045086	C	A	69045086	2	1	431	1	0	0	0	0	0	0	0	1	874	813	29	4		4	ARHGAP25	2	69045086	Silent	SNP	C	TCGA-BP-5182-01A-01D-1429-08		69045086	174154287	10	23624											
ARHGAP25	9938	hgsc.bcm.edu;ucsc.edu	37	2	69046267	69046267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr2:69046267delT	ENST00000295381.3	+	9	1432	c.1013delT	c.(1012-1014)atcfs	p.I338fs	ARHGAP25_ENST00000497079.1_Frame_Shift_Del_p.I332fs|ARHGAP25_ENST00000479844.1_Frame_Shift_Del_p.I32fs|ARHGAP25_ENST00000467265.1_Frame_Shift_Del_p.I299fs|ARHGAP25_ENST00000409220.1_Frame_Shift_Del_p.I332fs|ARHGAP25_ENST00000409202.3_Frame_Shift_Del_p.I339fs|ARHGAP25_ENST00000409030.3_Frame_Shift_Del_p.I331fs	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	338	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACTCCTCAGATCCAAAGAGTG	0.498																																																0													178	194	188					2																	69046267		2203	4300	6503	SO:0001589	frameshift_variant	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1013delT	2.37:g.69046267delT	ENSP00000295381:p.Ile338fs		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Frame_Shift_Del	DEL	ENST00000295381.3	37																																																																																					0.498	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		-	69046267	T	-	69046267	7	5	431	1	0	1	0	1	0	0	0	0	874	1435	50	0	1090	0	ARHGAP25	2	69046267	Frame_Shift_Del	DEL	T	TCGA-BP-5182-01A-01D-1429-08	1181	69046267	174153106	11	23625											
POLR1A	25885	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	86325787	86325787	+	Silent	SNP	G	G	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr2:86325787G>A	ENST00000263857.6	-	3	757	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	POLR1A_ENST00000409681.1_Silent_p.L127L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	127					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.L127L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCGACTTCCAGAACCCTCAGC	0.532																																																1	Substitution - coding silent(1)	kidney(1)											163	164	164					2																	86325787		1913	4124	6037	SO:0001819	synonymous_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.379C>T	2.37:g.86325787G>A			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	CCDS42706.1																																																																																				0.532	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		A	86325787	G	A	86325787	2	1	431	1	0	0	0	0	0	0	0	1	12211	933	33	2		2	POLR1A	2	86325787	Silent	SNP	G	TCGA-BP-5182-01A-01D-1429-08	17279520	86325787	156873586	12	23626											
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152551064	152551064	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr2:152551064G>T	ENST00000172853.10	-	19	1901	c.1754C>A	c.(1753-1755)gCc>gAc	p.A585D	NEB_ENST00000604864.1_Missense_Mutation_p.A585D|NEB_ENST00000427231.2_Missense_Mutation_p.A585D|NEB_ENST00000603639.1_Missense_Mutation_p.A585D|NEB_ENST00000409198.1_Missense_Mutation_p.A585D|NEB_ENST00000397345.3_Missense_Mutation_p.A585D			P20929	NEBU_HUMAN	nebulin	585					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A585D(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTGGCTTTGGCTGCCAGCAG	0.488																																																2	Substitution - Missense(2)	kidney(2)											100	95	97					2																	152551064		1931	4126	6057	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1754C>A	2.37:g.152551064G>T	ENSP00000172853:p.Ala585Asp		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	33	5.264928	0.95399	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.84938	0.5583	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86877	0.2039	10	0.72032	D	0.01	.	17.1936	0.86887	0.0:0.0:1.0:0.0	.	218;585	Q86TG3;P20929	.;NEBU_HUMAN	D	585;585;585;585;311	ENSP00000386259:A585D;ENSP00000380505:A585D;ENSP00000416578:A585D;ENSP00000172853:A585D	ENSP00000172853:A585D	A	-	2	0	NEB	152259310	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.064000	0.93933	2.797000	0.96272	0.655000	0.94253	GCC		0.488	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152551064	G	T	152551064	3	4	431	1	0	0	0	0	1	0	0	0	10304	1203	42	4	24588	4	NEB	2	152551064	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	66225277	152551064	90648309	13	23627											
AOX1	316	broad.mit.edu	37	2	201450857	201450857	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr2:201450857T>G	ENST00000374700.2	+	1	267	c.26T>G	c.(25-27)tTc>tGc	p.F9C		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	9	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.F9C(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAGCTGCTCTTCTACGTGAAC	0.716																																																1	Substitution - Missense(1)	kidney(1)											7	8	8					2																	201450857		2164	4209	6373	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.26T>G	2.37:g.201450857T>G	ENSP00000363832:p.Phe9Cys		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893772	0.52121	.	.	ENSG00000138356	ENST00000374700	T	0.35605	1.3	3.82	3.82	0.43975	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.060832	0.64402	D	0.000002	T	0.59985	0.2234	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65500	-0.6153	10	0.87932	D	0	-28.933	10.4705	0.44633	0.0:0.0:0.0:1.0	.	9	Q06278	ADO_HUMAN	C	9	ENSP00000363832:F9C	ENSP00000363832:F9C	F	+	2	0	AOX1	201159102	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	3.796000	0.55507	1.723000	0.51488	0.260000	0.18958	TTC		0.716	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		G	201450857	T	G	201450857	3	3	431	1	0	0	0	0	1	0	0	0	729	1783	62	5	28	5	AOX1	2	201450857	Missense_Mutation	SNP	T	TCGA-BP-5182-01A-01D-1429-08	48899793	201450857	41748516	14	23628											
CPS1	1373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	211441087	211441087	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr2:211441087C>G	ENST00000233072.5	+	3	450	c.254C>G	c.(253-255)aCt>aGt	p.T85S	CPS1_ENST00000430249.2_Missense_Mutation_p.T91S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	85	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.T85S(1)|p.T91S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GAAGCTATTACTGACCCTGCC	0.408																																																2	Substitution - Missense(2)	kidney(2)											177	162	167					2																	211441087		2203	4300	6503	SO:0001583	missense	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.254C>G	2.37:g.211441087C>G	ENSP00000233072:p.Thr85Ser		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854493	0.91355	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.96	5.96	0.96718	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97340	0.9956	10	0.51188	T	0.08	0.623	20.4192	0.99033	0.0:1.0:0.0:0.0	.	95;85	Q59HF8;P31327	.;CPSM_HUMAN	S	85;85;91;91;93;85;85	ENSP00000388496:T85S;ENSP00000430697:T85S;ENSP00000430644:T91S;ENSP00000402608:T91S;ENSP00000233072:T85S	ENSP00000233072:T85S	T	+	2	0	CPS1	211149332	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.262000	0.78410	2.831000	0.97527	0.650000	0.86243	ACT		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			G	211441087	C	G	211441087	3	3	431	1	0	0	0	0	1	0	0	0	3825	565	20	4	286	4	CPS1	2	211441087	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08	9990230	211441087	31758286	15	23629											
ACSL3	2181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	223795455	223795455	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr2:223795455G>A	ENST00000357430.3	+	14	2188	c.1657G>A	c.(1657-1659)Gat>Aat	p.D553N	ACSL3_ENST00000392066.3_Missense_Mutation_p.D553N|AC013476.1_ENST00000582868.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	553					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.D553N(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTCTTTGAAGATGAAAATGG	0.388			T	ETV1	prostate																																		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	2	Substitution - Missense(2)	kidney(2)											100	103	102					2																	223795455		2203	4300	6503	SO:0001583	missense	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1657G>A	2.37:g.223795455G>A	ENSP00000350012:p.Asp553Asn		Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447121	0.96205	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.12465	2.68;2.68	5.74	5.74	0.90152	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.42396	-0.9454	10	0.87932	D	0	-28.8823	19.9187	0.97077	0.0:0.0:1.0:0.0	.	553	O95573	ACSL3_HUMAN	N	553	ENSP00000350012:D553N;ENSP00000375918:D553N	ENSP00000350012:D553N	D	+	1	0	ACSL3	223503699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.702000	0.92279	0.591000	0.81541	GAT		0.388	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		A	223795455	G	A	223795455	3	1	431	1	0	0	0	0	1	0	0	0	178	942	33	2	1699	2	ACSL3	2	223795455	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	12354368	223795455	19403918	16	23630											
TRANK1	9881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	36872739	36872739	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr3:36872739C>A	ENST00000429976.2	-	21	8450	c.8203G>T	c.(8203-8205)Ggc>Tgc	p.G2735C	TRANK1_ENST00000428977.2_Missense_Mutation_p.G2185C|TRANK1_ENST00000301807.6_Missense_Mutation_p.G2185C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2735							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.G2185S(2)|p.G2178S(2)|p.G2735S(2)|p.G2735C(1)|p.G2185C(1)|p.G2178C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTCTGGGCCACGGGTAAAC	0.592																																																9	Substitution - Missense(9)	lung(6)|kidney(3)											63	65	64					3																	36872739		2012	4168	6180	SO:0001583	missense	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8203G>T	3.37:g.36872739C>A	ENSP00000416168:p.Gly2735Cys		Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	5.740	0.321053	0.10845	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32515	1.45;1.87;1.45	5.25	-2.72	0.05968	.	0.760679	0.12318	N	0.479586	T	0.14657	0.0354	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15037	-1.0451	10	0.38643	T	0.18	.	5.3267	0.15910	0.3262:0.1566:0.0:0.5172	.	2735	O15050	TRNK1_HUMAN	C	2185;2735;2185	ENSP00000416826:G2185C;ENSP00000416168:G2735C;ENSP00000301807:G2185C	ENSP00000301807:G2185C	G	-	1	0	TRANK1	36847743	0.001000	0.12720	0.000000	0.03702	0.370000	0.29829	-0.152000	0.10159	-0.827000	0.04278	-0.367000	0.07326	GGC		0.592	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		A	36872739	C	A	36872739	3	1	431	1	0	0	0	0	1	0	0	0	16459	594	21	4	586	4	TRANK1	3	36872739	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08		36872739	161149691	17	23631											
SNRK	54861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	43389698	43389698	+	Silent	SNP	C	C	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr3:43389698C>T	ENST00000296088.7	+	7	2251	c.1947C>T	c.(1945-1947)ctC>ctT	p.L649L	SNRK_ENST00000454177.1_Silent_p.L649L|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000437827.1_Silent_p.L443L|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000429705.2_Silent_p.L649L	NM_017719.4	NP_060189.3			SNF related kinase									p.L649L(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GCCTCAAACTCATGAGCCTCT	0.552																																																2	Substitution - coding silent(2)	kidney(2)											31	33	33					3																	43389698		1943	4142	6085	SO:0001819	synonymous_variant	54861			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1947C>T	3.37:g.43389698C>T				Silent	SNP	ENST00000296088.7	37	CCDS43075.1																																																																																				0.552	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		T	43389698	C	T	43389698	2	4	431	1	0	0	0	0	0	0	0	1	14857	813	29	2		2	SNRK	3	43389698	Silent	SNP	C	TCGA-BP-5182-01A-01D-1429-08	6516959	43389698	154632732	18	23632											
KLHDC8B	200942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49212294	49212294	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr3:49212294G>A	ENST00000332780.2	+	4	870	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	KLHDC8B_ENST00000476495.2_3'UTR|C3orf84_ENST00000443990.1_5'Flank	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	221						cytoplasm (GO:0005737)		p.E221K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGCCATGGCTGAAGGCAGCGT	0.602																																																1	Substitution - Missense(1)	kidney(1)											44	46	45					3																	49212294		2203	4300	6503	SO:0001583	missense	200942				CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.661G>A	3.37:g.49212294G>A	ENSP00000327468:p.Glu221Lys			Missense_Mutation	SNP	ENST00000332780.2	37	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010869	0.93346	.	.	ENSG00000185909	ENST00000332780	T	0.77620	-1.11	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.109565	0.64402	D	0.000013	T	0.76212	0.3956	L	0.34521	1.04	0.52501	D	0.999952	P;P	0.45634	0.839;0.863	B;P	0.46685	0.218;0.524	T	0.76369	-0.2984	10	0.49607	T	0.09	-25.9536	19.4161	0.94700	0.0:0.0:1.0:0.0	.	175;221	B4DFM2;Q8IXV7	.;KLD8B_HUMAN	K	221	ENSP00000327468:E221K	ENSP00000327468:E221K	E	+	1	0	KLHDC8B	49187298	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	6.702000	0.74628	2.837000	0.97791	0.655000	0.94253	GAA		0.602	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		A	49212294	G	A	49212294	3	1	431	1	0	0	0	0	1	0	0	0	8365	1291	45	2	671	2	KLHDC8B	3	49212294	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	5822596	49212294	148810136	19	23633											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443892	52443892	+	5'Flank	SNP	C	C	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr3:52443892C>T	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Start_Codon_SNP_p.M1I|BAP1_ENST00000460680.1_Start_Codon_SNP_p.M1I|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.M1I(2)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGCCCTTATTCATCTTCCCGC	0.766																																																2	Substitution - Missense(2)	kidney(2)											25	31	29					3																	52443892		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443892C>T	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044029	0.93685	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.41758	0.99;0.99	5.06	5.06	0.68205	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	.	.	.	0.80722	D	1	P	0.34699	0.464	B	0.37692	0.256	T	0.47898	-0.9081	9	0.72032	D	0.01	-3.8616	16.2289	0.82318	0.0:1.0:0.0:0.0	.	1	Q92560	BAP1_HUMAN	I	1	ENSP00000417132:M1I;ENSP00000296288:M1I	ENSP00000296288:M1I	M	-	3	0	BAP1	52418932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.256000	0.72473	2.359000	0.80004	0.655000	0.94253	ATG		0.766	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		T	52443892	C	T	52443892	1	4	431	0	1	0	0	0	0	0	0	0	1311	826	29	2		2	BAP1	3	52443892	5'Flank	SNP	C	TCGA-BP-5182-01A-01D-1429-08	3231598	52443892	145578538	20	23634											
ZBTB20	26137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	114058081	114058081	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr3:114058081A>G	ENST00000474710.1	-	5	2175	c.1997T>C	c.(1996-1998)aTc>aCc	p.I666T	ZBTB20_ENST00000393785.2_Missense_Mutation_p.I593T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.I593T|ZBTB20_ENST00000462705.1_Missense_Mutation_p.I593T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.I593T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.I593T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.I593T	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	666						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.I593T(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTTTTTGCAGATGTAGCACTC	0.592																																					NSCLC(69;748 1344 9802 11203 30933)											1	Substitution - Missense(1)	kidney(1)											170	154	159					3																	114058081		2203	4300	6503	SO:0001583	missense	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1997T>C	3.37:g.114058081A>G	ENSP00000419153:p.Ile666Thr		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.292109	0.59976	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053160	0.85682	D	0.000000	T	0.11495	0.0280	L	0.35593	1.075	0.80722	D	1	P	0.48089	0.905	P	0.47118	0.538	T	0.12426	-1.0548	10	0.30854	T	0.27	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	666	Q9HC78	ZBT20_HUMAN	T	593;593;593;593;666;593;593	ENSP00000420324:I593T;ENSP00000377375:I593T;ENSP00000418092:I593T;ENSP00000419902:I593T;ENSP00000419153:I666T;ENSP00000349803:I593T;ENSP00000417307:I593T	ENSP00000349803:I593T	I	-	2	0	ZBTB20	115540771	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.288000	0.76882	0.533000	0.62120	ATC		0.592	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		G	114058081	A	G	114058081	3	3	431	1	0	0	0	0	1	0	0	0	17534	333	12	3	232	3	ZBTB20	3	114058081	Missense_Mutation	SNP	A	TCGA-BP-5182-01A-01D-1429-08	61614189	114058081	83964349	21	23635											
CCDC48	79825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128753037	128753037	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr3:128753037G>T	ENST00000480450.1	+	5	1314	c.1314G>T	c.(1312-1314)atG>atT	p.M438I	EFCC1_ENST00000436022.2_Start_Codon_SNP_p.M1I			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	438							calcium ion binding (GO:0005509)	p.M1I(1)|p.M438I(1)									AGAAGCTCATGACTTACTTTG	0.622																																																2	Substitution - Missense(2)	kidney(2)											93	88	89					3																	128753037		2203	4300	6503	SO:0001583	missense	0			AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1314G>T	3.37:g.128753037G>T	ENSP00000420075:p.Met438Ile		A8MYE2	Missense_Mutation	SNP	ENST00000480450.1	37	CCDS3054.2	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815403	0.32053	.	.	ENSG00000114654	ENST00000480450;ENST00000436022	T;T	0.42900	0.96;0.99	4.47	2.65	0.31530	.	0.971917	0.08444	N	0.945043	T	0.36635	0.0974	L	0.46157	1.445	0.80722	D	1	B	0.15473	0.013	B	0.11329	0.006	T	0.13818	-1.0495	10	0.56958	D	0.05	.	7.1984	0.25866	0.2139:0.0:0.7861:0.0	.	438	Q9HA90	CCD48_HUMAN	I	438;1	ENSP00000420075:M438I;ENSP00000414597:M1I	ENSP00000414597:M1I	M	+	3	0	CCDC48	130235727	0.883000	0.30277	0.001000	0.08648	0.833000	0.47200	3.150000	0.50662	0.425000	0.26087	0.313000	0.20887	ATG		0.622	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		T	128753037	G	T	128753037	3	4	431	1	0	0	0	0	1	0	0	0	2821	1290	45	4	1332	4	CCDC48	3	128753037	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	14694956	128753037	69269393	22	23636											
TLR1	7096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	38799865	38799865	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr4:38799865G>T	ENST00000502213.2	-	3	817	c.588C>A	c.(586-588)ttC>ttA	p.F196L	TLR1_ENST00000308979.2_Missense_Mutation_p.F196L			Q15399	TLR1_HUMAN	toll-like receptor 1	196					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.F196L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGTTTGTGGGGAACACAATGT	0.393																																					GBM(5;216 373 40795 46382)											1	Substitution - Missense(1)	kidney(1)											63	63	63					4																	38799865		2203	4300	6503	SO:0001583	missense	7096			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.588C>A	4.37:g.38799865G>T	ENSP00000421259:p.Phe196Leu		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.252776	0.01469	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.01629	4.72;4.72	4.59	1.76	0.24704	.	0.085568	0.49916	D	0.000122	T	0.01627	0.0052	L	0.46670	1.46	0.21652	N	0.999607	B	0.06786	0.001	B	0.10450	0.005	T	0.49808	-0.8900	10	0.09084	T	0.74	.	5.3574	0.16069	0.3317:0.1355:0.5328:0.0	.	196	Q15399	TLR1_HUMAN	L	196	ENSP00000354932:F196L;ENSP00000421259:F196L	ENSP00000354932:F196L	F	-	3	2	TLR1	38476260	0.008000	0.16893	0.982000	0.44146	0.010000	0.07245	-0.850000	0.04317	0.210000	0.20664	-0.345000	0.07892	TTC		0.393	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			T	38799865	G	T	38799865	3	4	431	1	0	0	0	0	1	0	0	0	15954	1165	41	4	1776	4	TLR1	4	38799865	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08		38799865	152354411	23	23637											
AGXT2L1	64850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	109681436	109681436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr4:109681436G>T	ENST00000296486.3	-	2	237	c.83C>A	c.(82-84)tCg>tAg	p.S28*	ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000510706.1_5'UTR|ETNPPL_ENST00000411864.2_Nonsense_Mutation_p.S28*	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	28						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.S28*(1)									GATGGGATCCGATGCAAAGAA	0.428																																																1	Substitution - Nonsense(1)	kidney(1)											93	92	92					4																	109681436		2203	4300	6503	SO:0001587	stop_gained	64850			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.83C>A	4.37:g.109681436G>T	ENSP00000296486:p.Ser28*		B7Z1Y0|E9PBY0|Q9H174	Nonsense_Mutation	SNP	ENST00000296486.3	37	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703861	0.96812	.	.	ENSG00000164089	ENST00000296486;ENST00000411864	.	.	.	5.65	0.68	0.17980	.	0.543643	0.20194	N	0.097260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.8329	16.2984	0.82786	0.0:0.0:0.1917:0.8083	.	.	.	.	X	28	.	.	S	-	2	0	AGXT2L1	109900885	0.970000	0.33590	0.994000	0.49952	0.962000	0.63368	1.614000	0.36911	0.143000	0.18926	0.563000	0.77884	TCG		0.428	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		T	109681436	G	T	109681436	4	4	431	1	0	0	0	0	0	1	0	0	406	1059	37	4	1464	4	AGXT2L1	4	109681436	Nonsense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	70881571	109681436	81472840	24	23638											
NAF1	92345	broad.mit.edu;hgsc.bcm.edu	37	4	164087855	164087855	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr4:164087855C>A	ENST00000274054.2	-	1	218	c.25G>T	c.(25-27)Gct>Tct	p.A9S	NAF1_ENST00000422287.2_Missense_Mutation_p.A9S	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	9					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A9S(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCCAGCTGAGCGGCGGCGGCC	0.637																																																2	Substitution - Missense(2)	kidney(2)											17	23	21					4																	164087855		2083	4239	6322	SO:0001583	missense	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.25G>T	4.37:g.164087855C>A	ENSP00000274054:p.Ala9Ser		D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351057	0.61183	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.51071	0.74;0.72	2.81	2.81	0.32909	.	0.467249	0.19148	N	0.121532	T	0.49830	0.1580	L	0.32530	0.975	0.23795	N	0.996827	D;D	0.69078	0.997;0.992	D;D	0.74023	0.982;0.982	T	0.31779	-0.9931	10	0.15499	T	0.54	-20.5479	9.2868	0.37762	0.0:1.0:0.0:0.0	.	9;9	E9PAZ2;Q96HR8	.;NAF1_HUMAN	S	9	ENSP00000408963:A9S;ENSP00000274054:A9S	ENSP00000274054:A9S	A	-	1	0	NAF1	164307305	1.000000	0.71417	0.953000	0.39169	0.337000	0.28794	2.575000	0.46025	1.884000	0.54569	0.305000	0.20034	GCT		0.637	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		A	164087855	C	A	164087855	3	1	431	1	0	0	0	0	1	0	0	0	10142	768	27	4	1632	4	NAF1	4	164087855	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08	54406419	164087855	27066421	25	23639											
ENPP6	133121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	185138820	185138820	+	Silent	SNP	T	T	C	rs148715663	byFrequency	TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr4:185138820T>C	ENST00000296741.2	-	1	294	c.153A>G	c.(151-153)aaA>aaG	p.K51K		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	51					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)	p.K51K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCACAATCTCTTTGAAACCAG	0.498																																																1	Substitution - coding silent(1)	kidney(1)						T		0,4406		0,0,2203	81	76	78		153	0.1	0.6	4	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ENPP6	NM_153343.3		0,3,6500	CC,CT,TT		0.0349,0.0,0.0231		51/441	185138820	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	133121			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.153A>G	4.37:g.185138820T>C			Q4W5Q1|Q96M57	Silent	SNP	ENST00000296741.2	37	CCDS3834.1																																																																																				0.498	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		C	185138820	T	C	185138820	2	2	431	1	0	0	0	0	0	0	0	1	5136	1606	56	3		3	ENPP6	4	185138820	Silent	SNP	T	TCGA-BP-5182-01A-01D-1429-08	21050965	185138820	6015456	26	23640											
DDX46	9879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	134153324	134153324	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr5:134153324G>T	ENST00000354283.4	+	20	2884	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	DDX46_ENST00000452510.2_Nonsense_Mutation_p.E918*			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	917					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E917*(2)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGAAACAAGAAGAAGAGAG	0.408																																					Colon(13;391 453 4901 21675 24897)											2	Substitution - Nonsense(2)	lung(1)|kidney(1)											122	116	118					5																	134153324		2203	4300	6503	SO:0001587	stop_gained	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2749G>T	5.37:g.134153324G>T	ENSP00000346236:p.Glu917*		O94894|Q96EI0|Q9Y658	Nonsense_Mutation	SNP	ENST00000354283.4	37	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	41	8.627365	0.98890	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	.	.	.	5.8	5.8	0.92144	.	0.046318	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-25.8214	20.0706	0.97721	0.0:0.0:1.0:0.0	.	.	.	.	X	918;917	.	ENSP00000346236:E917X	E	+	1	0	DDX46	134181223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.744000	0.94065	0.655000	0.94253	GAA		0.408	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		T	134153324	G	T	134153324	4	4	431	1	0	0	0	0	0	1	0	0	4366	943	33	4	2827	4	DDX46	5	134153324	Nonsense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08		134153324	46761936	27	23641											
MGC29506	51237	broad.mit.edu	37	5	138724269	138724269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr5:138724269C>T	ENST00000302125.8	-	2	240	c.183G>A	c.(181-183)tgG>tgA	p.W61*	MZB1_ENST00000412103.2_Intron	NM_016459.3	NP_057543.2	Q8WU39	MZB1_HUMAN	marginal zone B and B1 cell-specific protein	61					apoptotic process (GO:0006915)|integrin activation (GO:0033622)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin biosynthetic process (GO:0002642)|regulation of B cell proliferation (GO:0030888)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.W61*(2)									CCAGATTTTGCCACATCTGGA	0.577																																																2	Substitution - Nonsense(2)	kidney(2)											33	35	34					5																	138724269		1909	4121	6030	SO:0001587	stop_gained	0			AF151024	CCDS47273.1	5q31.2	2012-09-27	2012-09-19		ENSG00000170476	ENSG00000170476			30125	protein-coding gene	gene with protein product	"plasma cell-induced ER protein 1", "proapoptotic caspase adaptor protein", "mesenteric oestrogen-dependent adipose gene- 7"	609447				22573353, 12573802, 11350957, 21093319, 21688198	Standard	NM_016459		Approved	PACAP, MGC29506, HSPC190, pERp1, MEDA-7	uc003lei.3	Q8WU39	OTTHUMG00000163390	ENST00000302125.8:c.183G>A	5.37:g.138724269C>T	ENSP00000303920:p.Trp61*		D2IYS0|Q7Z6N2|Q96RL5|Q9P0T3	Nonsense_Mutation	SNP	ENST00000302125.8	37	CCDS47273.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450797	0.43531	.	.	ENSG00000170476	ENST00000302125	.	.	.	4.69	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-2.454	11.1644	0.48535	0.0:0.8148:0.1852:0.0	.	.	.	.	X	61	.	ENSP00000303920:W61X	W	-	3	0	RP11-1280I22.1	138752168	0.849000	0.29639	0.997000	0.53966	0.427000	0.31564	1.074000	0.30703	1.325000	0.45301	0.462000	0.41574	TGG		0.577	MZB1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373055.1	NM_016459		T	138724269	C	T	138724269	4	4	431	1	0	0	0	0	0	1	0	0	9553	740	26	2	398	2	MGC29506	5	138724269	Nonsense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08	4570945	138724269	42190991	28	23642											
SKIV2L	6499	broad.mit.edu;hgsc.bcm.edu	37	6	31930533	31930533	+	Silent	SNP	G	G	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr6:31930533G>A	ENST00000375394.2	+	12	1367	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	SKIV2L_ENST00000544581.1_Silent_p.E225E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	418	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.E418E(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGGACCTGGAGTGGGTCATCT	0.572																																																1	Substitution - coding silent(1)	kidney(1)											142	132	135					6																	31930533		1510	2709	4219	SO:0001819	synonymous_variant	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1254G>A	6.37:g.31930533G>A			O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	CCDS4731.1																																																																																				0.572	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			A	31930533	G	A	31930533	2	1	431	1	0	0	0	0	0	0	0	1	14365	1020	36	2		2	SKIV2L	6	31930533	Silent	SNP	G	TCGA-BP-5182-01A-01D-1429-08		31930533	139184534	29	23643											
LRRC4	64101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127670481	127670481	+	Silent	SNP	C	C	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr7:127670481C>T	ENST00000249363.3	-	2	470	c.213G>A	c.(211-213)caG>caA	p.Q71Q	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	71	LRRNT.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.Q71Q(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGGGAATACCCTGCGGGACCT	0.647																																																1	Substitution - coding silent(1)	kidney(1)											158	161	160					7																	127670481		2203	4300	6503	SO:0001819	synonymous_variant	64101			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.213G>A	7.37:g.127670481C>T			A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	37	CCDS5799.1																																																																																				0.647	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		T	127670481	C	T	127670481	2	4	431	1	0	0	0	0	0	0	0	1	8999	680	24	2		2	LRRC4	7	127670481	Silent	SNP	C	TCGA-BP-5182-01A-01D-1429-08		127670481	31468182	30	23644											
FLNC	2318	hgsc.bcm.edu;ucsc.edu	37	7	128483008	128483008	+	Splice_Site	DEL	G	G	-			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr7:128483008delG	ENST00000325888.8	+	16	2811	c.2550delG	c.(2548-2550)cag>ca	p.Q850fs	FLNC_ENST00000346177.6_Splice_Site_p.Q850fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	850					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTGCCAACCAGGTACCTAAGC	0.562																																																0													48	52	51					7																	128483008		2104	4224	6328	SO:0001630	splice_region_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2550+1G>-	7.37:g.128483008delG			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Del	DEL	ENST00000325888.8	37	CCDS43644.1																																																																																				0.562	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		Frame_Shift_Del	-	128483008	G	-	128483008	8	5	431	1	0	1	0	1	0	0	1	0	5937	1014	35	0	2612	0	FLNC	7	128483008	Splice_Site	DEL	G	TCGA-BP-5182-01A-01D-1429-08	812527	128483008	30655655	31	23645											
ZMYND11	10771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	298337	298337	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr10:298337C>A	ENST00000397962.3	+	15	2164	c.1736C>A	c.(1735-1737)tCc>tAc	p.S579Y	ZMYND11_ENST00000602682.1_Missense_Mutation_p.S494Y|ZMYND11_ENST00000381607.4_Missense_Mutation_p.S485Y|ZMYND11_ENST00000381584.1_Missense_Mutation_p.S562Y|ZMYND11_ENST00000381591.1_Missense_Mutation_p.S579Y|ZMYND11_ENST00000381604.4_Missense_Mutation_p.S539Y|ZMYND11_ENST00000545619.1_Missense_Mutation_p.S459Y|ZMYND11_ENST00000535374.1_Missense_Mutation_p.S374Y|ZMYND11_ENST00000397959.3_Missense_Mutation_p.S494Y|ZMYND11_ENST00000403354.1_Missense_Mutation_p.S499Y|ZMYND11_ENST00000402736.1_Missense_Mutation_p.S548Y|ZMYND11_ENST00000309776.4_Missense_Mutation_p.S539Y			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	579					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S539Y(1)|p.S579Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGGAACACATCCTACTGCTCC	0.577																																																2	Substitution - Missense(2)	kidney(2)											146	141	142					10																	298337		2203	4300	6503	SO:0001583	missense	10771			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1736C>A	10.37:g.298337C>A	ENSP00000381053:p.Ser579Tyr		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451090	0.84209	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	.	.	.	5.29	4.38	0.52667	Zinc finger, MYND-type (2);	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	M	0.79805	2.47	0.48632	D	0.999682	D;D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.99;0.999;0.999	D;D;D;D;D;D;D	0.85130	0.997;0.994;0.956;0.997;0.974;0.997;0.996	D	0.84592	0.0667	8	0.72032	D	0.01	-14.1553	16.332	0.83039	0.0:0.8677:0.1323:0.0	.	539;494;524;579;499;508;525	Q15326;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD47	ZMY11_HUMAN;.;.;.;.;.;.	Y	579;539;494;579;499;485;548;539;562;459;374	.	ENSP00000309992:S539Y	S	+	2	0	ZMYND11	288337	1.000000	0.71417	0.427000	0.26684	0.986000	0.74619	7.760000	0.85248	1.341000	0.45600	0.561000	0.74099	TCC		0.577	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		A	298337	C	A	298337	3	1	431	1	0	0	0	0	1	0	0	0	17711	855	30	4	1811	4	ZMYND11	10	298337	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08		298337	135236410	32	23646											
ADAMTS14	140766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	72498659	72498659	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr10:72498659G>C	ENST00000373207.1	+	11	1661	c.1661G>C	c.(1660-1662)gGc>gCc	p.G554A	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.G557A	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	554	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G557A(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGGATGGAGGCTGGAGCTCC	0.627																																																1	Substitution - Missense(1)	kidney(1)											76	69	71					10																	72498659		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1661G>C	10.37:g.72498659G>C	ENSP00000362303:p.Gly554Ala		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795402	0.50208	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.60424	0.19;0.19	4.89	4.89	0.63831	.	0.177748	0.49305	D	0.000142	T	0.53190	0.1781	L	0.48642	1.525	0.44531	D	0.997481	B;B;B	0.25955	0.138;0.038;0.038	B;B;B	0.27500	0.049;0.04;0.08	T	0.49570	-0.8926	10	0.30078	T	0.28	.	17.8276	0.88671	0.0:0.0:1.0:0.0	.	487;554;557	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	A	557;554	ENSP00000362304:G557A;ENSP00000362303:G554A	ENSP00000362303:G554A	G	+	2	0	ADAMTS14	72168665	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.342000	0.65970	2.533000	0.85409	0.455000	0.32223	GGC		0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		C	72498659	G	C	72498659	3	2	431	1	0	0	0	0	1	0	0	0	259	1203	42	4	1712	4	ADAMTS14	10	72498659	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	72200322	72498659	63036088	33	23647											
TLL2	7093	broad.mit.edu;ucsc.edu	37	10	98182331	98182331	+	Silent	SNP	G	G	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr10:98182331G>T	ENST00000357947.3	-	6	1017	c.792C>A	c.(790-792)acC>acA	p.T264T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	264	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T264T(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCCTGATGATGGTGACATGTT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											185	144	158					10																	98182331		2203	4300	6503	SO:0001819	synonymous_variant	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.792C>A	10.37:g.98182331G>T			A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	CCDS7449.1																																																																																				0.567	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			T	98182331	G	T	98182331	2	4	431	1	0	0	0	0	0	0	0	1	15951	1335	47	4		4	TLL2	10	98182331	Silent	SNP	G	TCGA-BP-5182-01A-01D-1429-08	25683672	98182331	37352416	34	23648											
SEC31B	25956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102249094	102249094	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr10:102249094T>A	ENST00000370345.3	-	23	3183	c.3086A>T	c.(3085-3087)gAg>gTg	p.E1029V		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1029	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.E1029V(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCCTTGTAGCTCAGGGGTGAG	0.527																																																1	Substitution - Missense(1)	kidney(1)											80	86	84					10																	102249094		2203	4300	6503	SO:0001583	missense	25956			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3086A>T	10.37:g.102249094T>A	ENSP00000359370:p.Glu1029Val		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067363	0.55539	.	.	ENSG00000075826	ENST00000370345	T	0.53206	0.63	4.68	4.68	0.58851	.	0.241861	0.40222	N	0.001151	T	0.60919	0.2306	M	0.70275	2.135	0.80722	D	1	P;P	0.52463	0.953;0.922	P;P	0.55713	0.782;0.611	T	0.65138	-0.6241	10	0.56958	D	0.05	-6.9087	13.4654	0.61251	0.0:0.0:0.0:1.0	.	1028;1029	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	V	1029	ENSP00000359370:E1029V	ENSP00000359370:E1029V	E	-	2	0	SEC31B	102239084	1.000000	0.71417	0.689000	0.30133	0.189000	0.23516	6.744000	0.74854	1.980000	0.57719	0.459000	0.35465	GAG		0.527	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		A	102249094	T	A	102249094	3	1	431	1	0	0	0	0	1	0	0	0	14005	1551	54	5	469	5	SEC31B	10	102249094	Missense_Mutation	SNP	T	TCGA-BP-5182-01A-01D-1429-08	4066763	102249094	33285653	35	23649											
TAF5	6877	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105133273	105133273	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr10:105133273T>G	ENST00000369839.3	+	2	741	c.718T>G	c.(718-720)Ttt>Gtt	p.F240V	TAF5_ENST00000351396.4_Missense_Mutation_p.F240V	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	240					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F240V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GTCCCAACTTTTTTATCCTCT	0.383																																																1	Substitution - Missense(1)	kidney(1)											130	121	124					10																	105133273		2203	4300	6503	SO:0001583	missense	6877			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.718T>G	10.37:g.105133273T>G	ENSP00000358854:p.Phe240Val		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.788892	0.70337	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.55588	0.77;0.51	5.13	5.13	0.70059	TFIID subunit, WD40-associated region (1);	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	L	0.36672	1.1	0.80722	D	1	P;D	0.56521	0.925;0.976	B;P	0.51355	0.439;0.667	T	0.59327	-0.7475	10	0.72032	D	0.01	-10.9706	14.9325	0.70926	0.0:0.0:0.0:1.0	.	240;240	Q15542-2;Q15542	.;TAF5_HUMAN	V	240	ENSP00000358854:F240V;ENSP00000311024:F240V	ENSP00000311024:F240V	F	+	1	0	TAF5	105123263	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.698000	0.84413	1.936000	0.56123	0.454000	0.30748	TTT		0.383	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			G	105133273	T	G	105133273	3	3	431	1	0	0	0	0	1	0	0	0	15533	1841	64	5	724	5	TAF5	10	105133273	Missense_Mutation	SNP	T	TCGA-BP-5182-01A-01D-1429-08	2884179	105133273	30401474	36	23650											
CARS	833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	3039892	3039892	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr11:3039892T>G	ENST00000397111.5	-	12	1479	c.1234A>C	c.(1234-1236)Aaa>Caa	p.K412Q	CARS_ENST00000401769.3_Missense_Mutation_p.K425Q|CARS_ENST00000278224.9_Missense_Mutation_p.K412Q|CARS_ENST00000397114.3_Missense_Mutation_p.K402Q|CARS_ENST00000380525.4_Missense_Mutation_p.K495Q			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	412					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.K412Q(1)|p.K495Q(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATGAAGTTTTTTAGTGACTTT	0.478			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	2	Substitution - Missense(2)	kidney(2)											206	201	203					11																	3039892		2202	4298	6500	SO:0001583	missense	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1234A>C	11.37:g.3039892T>G	ENSP00000380300:p.Lys412Gln		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079960	0.76528	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.53640	0.61;0.62;0.61;0.62;0.61	4.71	4.71	0.59529	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.90814	3.15	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.999;0.995;0.997;0.993;0.995	T	0.80400	-0.1398	10	0.87932	D	0	-13.9732	14.1952	0.65667	0.0:0.0:0.0:1.0	.	425;495;412;412;495;402	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	Q	495;412;412;402;425	ENSP00000369897:K495Q;ENSP00000380300:K412Q;ENSP00000278224:K412Q;ENSP00000380303:K402Q;ENSP00000384069:K425Q	ENSP00000278224:K412Q	K	-	1	0	CARS	2996468	1.000000	0.71417	0.446000	0.26920	0.709000	0.40893	7.550000	0.82173	1.767000	0.52121	0.482000	0.46254	AAA		0.478	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		G	3039892	T	G	3039892	3	3	431	1	0	0	0	0	1	0	0	0	2659	1850	64	5	1064	5	CARS	11	3039892	Missense_Mutation	SNP	T	TCGA-BP-5182-01A-01D-1429-08		3039892	131966624	37	23651											
ARFGAP2	84364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47193064	47193064	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr11:47193064C>A	ENST00000524782.1	-	10	1082	c.854G>T	c.(853-855)cGt>cTt	p.R285L	ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.R178L|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.R149L|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.R16L	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	285	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R285L(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTCTTTCTTACGATCAATCTG	0.547																																																1	Substitution - Missense(1)	kidney(1)											221	215	217					11																	47193064		2201	4299	6500	SO:0001583	missense	84364			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.854G>T	11.37:g.47193064C>A	ENSP00000434442:p.Arg285Leu		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892203	0.72524	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701;ENST00000527927;ENST00000525398	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;0.986;1.0	D;P;D	0.91635	0.999;0.766;0.998	T	0.67872	-0.5558	10	0.56958	D	0.05	-17.9314	19.756	0.96291	0.0:1.0:0.0:0.0	.	178;149;285	B4DX29;G5E9L0;Q8N6H7	.;.;ARFG2_HUMAN	L	149;285;16;178;149;299	ENSP00000400226:R149L;ENSP00000434442:R285L;ENSP00000327309:R16L;ENSP00000389264:R178L;ENSP00000434433:R149L;ENSP00000431939:R299L	ENSP00000327309:R16L	R	-	2	0	ARFGAP2	47149640	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	5.452000	0.66638	2.665000	0.90641	0.655000	0.94253	CGT		0.547	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		A	47193064	C	A	47193064	3	1	431	1	0	0	0	0	1	0	0	0	850	536	19	4	739	4	ARFGAP2	11	47193064	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08	44153172	47193064	87813452	38	23652											
BBS1	582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66278152	66278152	+	Missense_Mutation	SNP	G	G	A	rs113994178		TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr11:66278152G>A	ENST00000318312.7	+	1	73	c.22G>A	c.(22-24)Gat>Aat	p.D8N	CTD-3074O7.11_ENST00000419755.3_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.D8N|BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Missense_Mutation_p.D8N	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	8					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.D8N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GTCCTCATCGGATTCCGACGC	0.662									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)											1	Substitution - Missense(1)	kidney(1)											35	36	36					11																	66278152		2200	4295	6495	SO:0001583	missense	582	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.22G>A	11.37:g.66278152G>A	ENSP00000317469:p.Asp8Asn		Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715371	0.48622	.	.	ENSG00000174483	ENST00000318312;ENST00000525809;ENST00000455748;ENST00000393994	D;D;D;D	0.97303	-4.33;-3.48;-4.24;-4.15	4.96	4.05	0.47172	.	.	.	.	.	D	0.92648	0.7664	L	0.29908	0.895	0.80722	D	1	B;B;B	0.13594	0.0;0.008;0.004	B;B;B	0.14578	0.003;0.011;0.007	D	0.88394	0.3010	9	0.19590	T	0.45	.	9.9881	0.41854	0.096:0.0:0.904:0.0	.	8;8;8	E7EQH1;Q32MM9;Q8NFJ9	.;.;BBS1_HUMAN	N	8	ENSP00000317469:D8N;ENSP00000431187:D8N;ENSP00000405764:D8N;ENSP00000377563:D8N	ENSP00000317469:D8N	D	+	1	0	BBS1	66034728	0.994000	0.37717	0.907000	0.35723	0.136000	0.21042	4.143000	0.58051	1.431000	0.47355	0.650000	0.86243	GAT		0.662	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			A	66278152	G	A	66278152	3	1	431	1	0	0	0	0	1	0	0	0	1335	1174	41	2	24	2	BBS1	11	66278152	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	19085088	66278152	68728364	39	23653											
EXPH5	23086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108383516	108383516	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr11:108383516G>T	ENST00000265843.4	-	6	2828	c.2718C>A	c.(2716-2718)ttC>ttA	p.F906L	EXPH5_ENST00000443411.1_Missense_Mutation_p.F718L|EXPH5_ENST00000428840.1_Missense_Mutation_p.F830L|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.F899L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	906					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.F906L(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCTCCTGGAGAACACTGTAG	0.428																																																1	Substitution - Missense(1)	kidney(1)											172	158	162					11																	108383516		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2718C>A	11.37:g.108383516G>T	ENSP00000265843:p.Phe906Leu		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900882	0.92035	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.10573	3.45;3.35;3.22;3.45;3.2;2.86	5.68	5.68	0.88126	.	0.385037	0.25555	N	0.029868	T	0.16981	0.0408	M	0.69823	2.125	0.37094	D	0.89956	B	0.23249	0.082	B	0.22386	0.039	T	0.02844	-1.1103	10	0.40728	T	0.16	-0.755	16.5316	0.84362	0.0:0.0:1.0:0.0	.	906	Q8NEV8	EXPH5_HUMAN	L	906;830;718;899;830;718	ENSP00000265843:F906L;ENSP00000391966:F830L;ENSP00000411390:F718L;ENSP00000432546:F899L;ENSP00000432683:F830L;ENSP00000446434:F718L	ENSP00000265843:F906L	F	-	3	2	EXPH5	107888726	0.343000	0.24818	0.641000	0.29422	0.812000	0.45895	1.011000	0.29911	2.687000	0.91594	0.563000	0.77884	TTC		0.428	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		T	108383516	G	T	108383516	3	4	431	1	0	0	0	0	1	0	0	0	5324	933	33	4	3255	4	EXPH5	11	108383516	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	42105364	108383516	26623000	40	23654											
MLL	4297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118375278	118375278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr11:118375278G>T	ENST00000389506.5	+	27	8662	c.8662G>T	c.(8662-8664)Gaa>Taa	p.E2888*	KMT2A_ENST00000534358.1_Nonsense_Mutation_p.E2891*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.E2850*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2888					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E2891*(1)|p.E2888*(1)									CAGTAATCGTGAAAAAGACAT	0.443																																																2	Substitution - Nonsense(2)	kidney(2)											175	166	169					11																	118375278		2200	4295	6495	SO:0001587	stop_gained	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8662G>T	11.37:g.118375278G>T	ENSP00000374157:p.Glu2888*		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	48	14.766935	0.99809	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	6.06	6.06	0.98353	.	0.320511	0.33691	N	0.004652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	.	.	.	X	2891;2888;2850;1798	.	ENSP00000346516:E2850X	E	+	1	0	MLL	117880488	1.000000	0.71417	0.955000	0.39395	0.995000	0.86356	5.643000	0.67895	2.871000	0.98454	0.655000	0.94253	GAA		0.443	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		T	118375278	G	T	118375278	4	4	431	1	0	0	0	0	0	1	0	0	9622	1291	45	4	8768	4	MLL	11	118375278	Nonsense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	9991762	118375278	16631238	41	23655											
FEZ1	9638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	125324081	125324081	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr11:125324081T>G	ENST00000278919.3	-	7	1199	c.965A>C	c.(964-966)aAc>aCc	p.N322T	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	322					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.N322T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTGCAGAATGTTGGAGATGCC	0.552																																					Melanoma(180;509 2033 10762 15939 24711)											1	Substitution - Missense(1)	kidney(1)											119	96	104					11																	125324081		2201	4299	6500	SO:0001583	missense	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.965A>C	11.37:g.125324081T>G	ENSP00000278919:p.Asn322Thr		O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656532	0.47467	.	.	ENSG00000149557	ENST00000278919	T	0.33438	1.41	5.63	0.215	0.15253	.	0.275955	0.45606	D	0.000358	T	0.22126	0.0533	L	0.47716	1.5	0.80722	D	1	B	0.30793	0.295	B	0.25759	0.063	T	0.04811	-1.0925	10	0.35671	T	0.21	-31.0359	9.6421	0.39846	0.0:0.3073:0.0:0.6927	.	322	Q99689	FEZ1_HUMAN	T	322	ENSP00000278919:N322T	ENSP00000278919:N322T	N	-	2	0	FEZ1	124829291	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.657000	0.24963	0.044000	0.15775	0.460000	0.39030	AAC		0.552	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		G	125324081	T	G	125324081	3	3	431	1	0	0	0	0	1	0	0	0	5825	1725	60	5	229	5	FEZ1	11	125324081	Missense_Mutation	SNP	T	TCGA-BP-5182-01A-01D-1429-08	6948803	125324081	9682435	42	23656											
PRIM1	5557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57139904	57139904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr12:57139904C>T	ENST00000338193.6	-	5	540	c.504G>A	c.(502-504)tgG>tgA	p.W168*	PRIM1_ENST00000552408.1_5'Flank	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	168					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.W168*(1)		kidney(1)|lung(6)|prostate(1)	8						CATCACAGACCCAACAATGAA	0.373																																																1	Substitution - Nonsense(1)	kidney(1)											117	106	110					12																	57139904		1860	4103	5963	SO:0001587	stop_gained	5557			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.504G>A	12.37:g.57139904C>T	ENSP00000350491:p.Trp168*			Nonsense_Mutation	SNP	ENST00000338193.6	37	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938946	0.73557	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7557	17.5123	0.87763	0.0:1.0:0.0:0.0	.	.	.	.	X	169;168;171	.	ENSP00000350491:W168X	W	-	3	0	PRIM1	55426171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.534000	0.82004	2.493000	0.84123	0.456000	0.33151	TGG		0.373	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946		T	57139904	C	T	57139904	4	4	431	1	0	0	0	0	0	1	0	0	12495	624	22	2	794	2	PRIM1	12	57139904	Nonsense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08		57139904	76711991	43	23657											
PTPRB	5787	broad.mit.edu;ucsc.edu	37	12	70970258	70970258	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr12:70970258delA	ENST00000261266.5	-	9	2121	c.2092delT	c.(2092-2094)tccfs	p.S698fs	PTPRB_ENST00000334414.6_Frame_Shift_Del_p.S916fs|PTPRB_ENST00000451516.2_Frame_Shift_Del_p.S608fs|PTPRB_ENST00000551525.1_Frame_Shift_Del_p.S915fs|PTPRB_ENST00000550857.1_Frame_Shift_Del_p.S608fs|PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000538708.1_Frame_Shift_Del_p.S698fs	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	698	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGCTGAAGGAACATTCTCTG	0.522																																																0													59	64	62					12																	70970258		2075	4215	6290	SO:0001589	frameshift_variant	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2092delT	12.37:g.70970258delA	ENSP00000261266:p.Ser698fs		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Frame_Shift_Del	DEL	ENST00000261266.5	37	CCDS44944.1																																																																																				0.522	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			-	70970258	A	-	70970258	7	5	431	1	0	1	0	1	0	0	0	0	12802	246	9	0	3997	0	PTPRB	12	70970258	Frame_Shift_Del	DEL	A	TCGA-BP-5182-01A-01D-1429-08	13830354	70970258	62881637	44	23658											
PSMB11	122706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23511526	23511526	+	Missense_Mutation	SNP	G	G	A	rs372195981		TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr14:23511526G>A	ENST00000408907.2	+	1	151	c.92G>A	c.(91-93)cGg>cAg	p.R31Q		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	31					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)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.R31Q(3)		endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GCTGTGCCCCGGGGTTGTGAC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17841	0.0		0.0	False		,,,				2504	0.001															3	Substitution - Missense(3)	kidney(3)											58	69	65					14																	23511526		2100	4220	6320	SO:0001583	missense	122706				CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.92G>A	14.37:g.23511526G>A	ENSP00000386212:p.Arg31Gln			Missense_Mutation	SNP	ENST00000408907.2	37	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466849	0.26335	.	.	ENSG00000222028	ENST00000408907	T	0.35048	1.33	5.53	0.283	0.15696	.	0.617780	0.14141	N	0.338696	T	0.27027	0.0662	L	0.52573	1.65	0.20926	N	0.999823	B	0.16396	0.017	B	0.09377	0.004	T	0.18587	-1.0332	10	0.33141	T	0.24	-1.8886	5.8511	0.18694	0.073:0.3777:0.4197:0.1296	.	31	A5LHX3	PSB11_HUMAN	Q	31	ENSP00000386212:R31Q	ENSP00000386212:R31Q	R	+	2	0	PSMB11	22581366	0.000000	0.05858	0.652000	0.29579	0.930000	0.56654	-0.321000	0.08018	0.044000	0.15775	0.655000	0.94253	CGG		0.652	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		A	23511526	G	A	23511526	3	1	431	1	0	0	0	0	1	0	0	0	12681	1116	39	1	94	1	PSMB11	14	23511526	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08		23511526	83838014	45	23659											
FNTB	2342	broad.mit.edu;ucsc.edu	37	14	65482387	65482387	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr14:65482387C>G	ENST00000246166.2	+	4	561	c.327C>G	c.(325-327)caC>caG	p.H109Q	CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.H144Q|AL139022.1_ENST00000577601.1_RNA|FNTB_ENST00000542227.1_Missense_Mutation_p.H63Q|FNTB_ENST00000447296.2_Missense_Mutation_p.H143Q|MAX_ENST00000341653.2_Intron|FNTB_ENST00000555742.1_3'UTR	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	109					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)	p.H109Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GGATCCTGCACAGCTTGGAAC	0.488																																																1	Substitution - Missense(1)	kidney(1)											124	108	114					14																	65482387		2203	4300	6503	SO:0001583	missense	2342				CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.327C>G	14.37:g.65482387C>G	ENSP00000246166:p.His109Gln		B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	CCDS9769.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289009	0.59976	.	.	ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000257365;ENSG00000257365	ENST00000542227;ENST00000549987;ENST00000447296;ENST00000553743;ENST00000246166;ENST00000555372	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.97	4.17	0.49024	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	L	0.54908	1.71	0.80722	D	1	P;D;D;D	0.65815	0.921;0.995;0.99;0.966	B;P;B;B	0.52386	0.258;0.697;0.402;0.361	T	0.29274	-1.0017	10	0.32370	T	0.25	-27.9278	7.9125	0.29800	0.0:0.6971:0.0:0.3029	.	112;63;143;109	Q86TX8;B4E1A0;B4DL54;P49356	.;.;.;FNTB_HUMAN	Q	63;144;143;67;109;109	ENSP00000443140:H63Q;ENSP00000447121:H144Q;ENSP00000406393:H143Q;ENSP00000246166:H109Q	ENSP00000246166:H109Q	H	+	3	2	FNTB;AL139022.1	64552140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.928000	0.40104	0.877000	0.35895	0.655000	0.94253	CAC		0.488	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		G	65482387	C	G	65482387	3	3	431	1	0	0	0	0	1	0	0	0	5980	477	17	4	341	4	FNTB	14	65482387	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08	41970861	65482387	41867153	46	23660											
TMEM87A	25963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42512318	42512318	+	Silent	SNP	T	T	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr15:42512318T>A	ENST00000389834.4	-	16	1683	c.1419A>T	c.(1417-1419)ccA>ccT	p.P473P	RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Silent_p.P412P	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	473						integral component of membrane (GO:0016021)		p.P473P(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CCTCAGACAATGGTGAAAAGG	0.318																																																1	Substitution - coding silent(1)	kidney(1)											96	103	101					15																	42512318		2203	4299	6502	SO:0001819	synonymous_variant	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1419A>T	15.37:g.42512318T>A			Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	ENST00000389834.4	37	CCDS32205.1																																																																																				0.318	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		A	42512318	T	A	42512318	2	1	431	1	0	0	0	0	0	0	0	1	16215	1451	51	5		5	TMEM87A	15	42512318	Silent	SNP	T	TCGA-BP-5182-01A-01D-1429-08		42512318	60019074	47	23661											
CCDC78	124093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	775560	775560	+	Silent	SNP	C	C	T	rs532009000		TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr16:775560C>T	ENST00000293889.6	-	4	393	c.288G>A	c.(286-288)cgG>cgA	p.R96R	HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	96					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)		p.R96R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GCTCCAGTACCCGGCTCTCCA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		18034	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	kidney(1)											39	40	39					16																	775560		2191	4295	6486	SO:0001819	synonymous_variant	124093			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.288G>A	16.37:g.775560C>T			B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Silent	SNP	ENST00000293889.6	37	CCDS32353.1																																																																																				0.657	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		T	775560	C	T	775560	2	4	431	1	0	0	0	0	0	0	0	1	2854	610	22	2		2	CCDC78	16	775560	Silent	SNP	C	TCGA-BP-5182-01A-01D-1429-08		775560	89579193	48	23662											
SRCAP	10847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30735820	30735820	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr16:30735820G>C	ENST00000262518.4	+	25	5460	c.5075G>C	c.(5074-5076)gGa>gCa	p.G1692A	SRCAP_ENST00000395059.2_Missense_Mutation_p.G1630A|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1534A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1692	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.G1692A(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCACTCTTGGAGGCTCATCT	0.562																																																1	Substitution - Missense(1)	kidney(1)											120	129	126					16																	30735820		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5075G>C	16.37:g.30735820G>C	ENSP00000262518:p.Gly1692Ala		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	6.628	0.484389	0.12641	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90004	-2.54;-2.59;-2.6	5.81	4.85	0.62838	.	0.126462	0.36778	N	0.002409	T	0.75339	0.3836	N	0.19112	0.55	0.22940	N	0.998531	B;B;B	0.18741	0.03;0.03;0.018	B;B;B	0.21151	0.033;0.033;0.015	T	0.59252	-0.7489	10	0.02654	T	1	-3.7491	6.8326	0.23919	0.0862:0.0:0.7381:0.1757	.	1534;1630;1692	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	A	1692;1630;1534	ENSP00000262518:G1692A;ENSP00000378499:G1630A;ENSP00000343042:G1534A	ENSP00000262518:G1692A	G	+	2	0	SRCAP	30643321	1.000000	0.71417	0.948000	0.38648	0.615000	0.37417	4.812000	0.62613	2.741000	0.93983	0.650000	0.86243	GGA		0.562	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		C	30735820	G	C	30735820	3	2	431	1	0	0	0	0	1	0	0	0	15140	1174	41	4	5165	4	SRCAP	16	30735820	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	29960260	30735820	59618933	49	23663											
PYDC1	260434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31228342	31228342	+	Missense_Mutation	SNP	G	G	C	rs546281460	byFrequency	TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr16:31228342G>C	ENST00000302964.3	-	1	338	c.8C>G	c.(7-9)aCg>aGg	p.T3R	PYDC1_ENST00000568383.1_5'Flank|TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	3	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)		p.T3M(1)|p.T3R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CTCGCGCTTCGTTCCCATGGC	0.647																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											45	38	40					16																	31228342		2197	4300	6497	SO:0001583	missense	260434				CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"pyrin domain containing 1"			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407	ENST00000302964.3:c.8C>G	16.37:g.31228342G>C	ENSP00000304336:p.Thr3Arg		B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	G	0.246	-1.010034	0.02095	.	.	ENSG00000169900	ENST00000302964	T	0.40756	1.02	3.63	-3.22	0.05125	Pyrin (1);DEATH-like (2);	2.334450	0.02566	N	0.097247	T	0.25306	0.0615	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09975	-1.0650	9	0.30078	T	0.28	.	4.4689	0.11703	0.0:0.3093:0.3388:0.3519	.	3	Q8WXC3	PYDC1_HUMAN	R	3	ENSP00000304336:T3R	ENSP00000304336:T3R	T	-	2	0	PYDC1	31135843	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.836000	0.01690	-0.510000	0.06523	-1.048000	0.02349	ACG		0.647	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		C	31228342	G	C	31228342	3	2	431	1	0	0	0	0	1	0	0	0	12864	1145	40	4	265	4	PYDC1	16	31228342	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	492522	31228342	59126411	50	23664											
HAS3	3038	broad.mit.edu;hgsc.bcm.edu	37	16	69149149	69149149	+	Silent	SNP	T	T	C	rs375357316		TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr16:69149149T>C	ENST00000306560.1	+	4	1798	c.1642T>C	c.(1642-1644)Ttg>Ctg	p.L548L	HAS3_ENST00000569188.1_Silent_p.L548L|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	548					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.L548L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GCAGTACAGCTTGGCTTTTGC	0.572																																																1	Substitution - coding silent(1)	kidney(1)						T	,,	0,4396		0,0,2198	45	48	47		1642,1642,	2.3	1	16		47	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,intron	HAS3	NM_001199280.1,NM_005329.2,NM_138612.2	,,	0,1,6497	CC,CT,TT		0.0116,0.0,0.0077	,,	548/554,548/554,	69149149	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	3038			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1642T>C	16.37:g.69149149T>C			A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	CCDS10871.1																																																																																				0.572	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		C	69149149	T	C	69149149	2	2	431	1	0	0	0	0	0	0	0	1	6965	1606	56	3		3	HAS3	16	69149149	Silent	SNP	T	TCGA-BP-5182-01A-01D-1429-08	37920807	69149149	21205604	51	23665											
KLHL36	79786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84691436	84691436	+	Frame_Shift_Del	DEL	G	G	-	rs367668625		TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr16:84691436delG	ENST00000564996.1	+	3	1164	c.1023delG	c.(1021-1023)gcgfs	p.A341fs	KLHL36_ENST00000258157.5_Frame_Shift_Del_p.A341fs	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	341					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACTGTGTCGCGGTGCTGGGGG	0.637																																																0													15	16	16					16																	84691436		2192	4285	6477	SO:0001589	frameshift_variant	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1023delG	16.37:g.84691436delG	ENSP00000456743:p.Ala341fs		Q8N5G6|Q9H9U6	Frame_Shift_Del	DEL	ENST00000564996.1	37	CCDS10948.1																																																																																				0.637	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			-	84691436	G	-	84691436	7	5	431	1	0	1	0	1	0	0	0	0	8391	1103	39	0	1029	0	KLHL36	16	84691436	Frame_Shift_Del	DEL	G	TCGA-BP-5182-01A-01D-1429-08	15542287	84691436	5663317	52	23666											
NUP88	4927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5322749	5322749	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr17:5322749T>A	ENST00000573584.1	-	1	731	c.222A>T	c.(220-222)gaA>gaT	p.E74D	RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	74					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.E74D(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						AGGAGCTGTCTTCTCCGTCCC	0.627																																																1	Substitution - Missense(1)	kidney(1)											59	62	61					17																	5322749		2203	4300	6503	SO:0001583	missense	4927			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.222A>T	17.37:g.5322749T>A	ENSP00000458954:p.Glu74Asp		D3DTM2|Q9BWE5	Silent	SNP	ENST00000573584.1	37	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208844	0.58343	.	.	ENSG00000108559	ENST00000225696	T	0.70282	-0.47	5.19	-1.04	0.10068	.	0.520122	0.21089	N	0.080358	T	0.44498	0.1296	N	0.22421	0.69	0.23936	N	0.996419	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.09952	-1.0651	10	0.20046	T	0.44	-11.143	1.5119	0.02497	0.1503:0.3636:0.2014:0.2847	.	74;74	B7Z5I6;Q99567	.;NUP88_HUMAN	D	74	ENSP00000225696:E74D	ENSP00000225696:E74D	E	-	3	2	NUP88	5263473	0.000000	0.05858	0.666000	0.29783	0.950000	0.60333	-0.673000	0.05239	-0.093000	0.12396	0.533000	0.62120	GAA		0.627	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		A	5322749	T	A	5322749	3	1	431	1	0	0	0	0	1	0	0	0	10773	1606	56	5	2071	5	NUP88	17	5322749	Missense_Mutation	SNP	T	TCGA-BP-5182-01A-01D-1429-08		5322749	75872461	53	23667											
GPR179	440435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36486397	36486397	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr17:36486397G>T	ENST00000342292.4	-	11	3075	c.3055C>A	c.(3055-3057)Cac>Aac	p.H1019N	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1019					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H1019N(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGGAGTGGTGGCCTCGCTCT	0.617																																																1	Substitution - Missense(1)	kidney(1)											47	50	49					17																	36486397		1938	4139	6077	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3055C>A	17.37:g.36486397G>T	ENSP00000345060:p.His1019Asn			Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.331103	0.00227	.	.	ENSG00000188888	ENST00000342292	T	0.48522	0.81	5.06	-8.35	0.00984	.	2.028210	0.01566	N	0.020368	T	0.23926	0.0579	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12630	-1.0540	10	0.18710	T	0.47	1.3496	9.9307	0.41521	0.0:0.2803:0.5362:0.1835	.	1019	Q6PRD1	GP179_HUMAN	N	1019	ENSP00000345060:H1019N	ENSP00000345060:H1019N	H	-	1	0	GPR179	33739923	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.966000	0.03825	-1.653000	0.01500	-0.521000	0.04368	CAC		0.617	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			T	36486397	G	T	36486397	3	4	431	1	0	0	0	0	1	0	0	0	6676	1348	47	4	4052	4	GPR179	17	36486397	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	31163648	36486397	44708813	54	23668											
EIF1	10209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39846142	39846142	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr17:39846142A>T	ENST00000469257.1	+	2	290	c.144A>T	c.(142-144)caA>caT	p.Q48H	JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_Intron|EIF1_ENST00000591776.1_Missense_Mutation_p.Q48H			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	48					dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.Q48H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTACTGTCCAAGGGATCGCTG	0.413											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(176;1692 2837 16734 17588)											1	Substitution - Missense(1)	kidney(1)											70	70	70					17																	39846142		2203	4299	6502	SO:0001583	missense	10209			AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.144A>T	17.37:g.39846142A>T	ENSP00000419449:p.Gln48His	13	Q9UNQ9	Missense_Mutation	SNP	ENST00000469257.1	37	CCDS11403.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293804	0.80914	.	.	ENSG00000173812	ENST00000469257	T	0.33654	1.4	5.18	1.67	0.24075	Translation initiation factor SUI1 (3);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	M	0.93462	3.42	0.51012	D	0.999906	P	0.39862	0.692	P	0.48598	0.583	T	0.58261	-0.7667	10	0.87932	D	0	3.6052	7.3761	0.26829	0.585:0.0:0.415:0.0	.	48	P41567	EIF1_HUMAN	H	48	ENSP00000419449:Q48H	ENSP00000419449:Q48H	Q	+	3	2	EIF1	37099668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.850000	0.55918	0.439000	0.26476	0.379000	0.24179	CAA		0.413	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257390.1	NM_005801		T	39846142	A	T	39846142	3	4	431	1	0	0	0	0	1	0	0	0	4992	69	3	5	150	5	EIF1	17	39846142	Missense_Mutation	SNP	A	TCGA-BP-5182-01A-01D-1429-08	3359745	39846142	41349068	55	23669											
L3MBTL4	91133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	6311557	6311557	+	Missense_Mutation	SNP	C	C	T	rs199766253	byFrequency	TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr18:6311557C>T	ENST00000284898.6	-	3	268	c.68G>A	c.(67-69)cGc>cAc	p.R23H	L3MBTL4_ENST00000400104.3_Missense_Mutation_p.R23H|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R23H|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R23H	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	23					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R23H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCTTACCAAGCGTCCGTCCTG	0.498													C|||	4	0.000798722	0.0	0.0	5008	,	,		16439	0.004		0.0	False		,,,				2504	0.0				Esophageal Squamous(41;748 902 17366 28959 43175)											1	Substitution - Missense(1)	kidney(1)											316	284	295					18																	6311557		2203	4300	6503	SO:0001583	missense	91133			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.68G>A	18.37:g.6311557C>T	ENSP00000284898:p.Arg23His		A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	CCDS11839.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	10.09	1.254862	0.22965	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.15017	2.46;2.46;2.46;2.68	4.8	3.92	0.45320	.	1.266020	0.05310	N	0.524614	T	0.09686	0.0238	N	0.08118	0	0.52099	D	0.999942	P	0.38370	0.628	B	0.28139	0.086	T	0.08411	-1.0723	10	0.46703	T	0.11	.	10.9859	0.47523	0.0:0.8118:0.1881:0.0	.	23	Q8NA19	LMBL4_HUMAN	H	23	ENSP00000382976:R23H;ENSP00000318543:R23H;ENSP00000284898:R23H;ENSP00000382975:R23H	ENSP00000284898:R23H	R	-	2	0	L3MBTL4	6301557	0.318000	0.24598	0.720000	0.30636	0.162000	0.22319	1.666000	0.37460	1.244000	0.43870	0.555000	0.69702	CGC		0.498	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		T	6311557	C	T	6311557	3	4	431	1	0	0	0	0	1	0	0	0	8596	768	27	1	1875	1	L3MBTL4	18	6311557	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08		6311557	71765691	56	23670											
APC2	10297	broad.mit.edu;hgsc.bcm.edu	37	19	1467881	1467881	+	Missense_Mutation	SNP	C	C	G	rs566223544		TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr19:1467881C>G	ENST00000535453.1	+	14	6294	c.4581C>G	c.(4579-4581)caC>caG	p.H1527Q	APC2_ENST00000238483.4_Missense_Mutation_p.H1253Q|APC2_ENST00000233607.2_Missense_Mutation_p.H1527Q|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)	p.H1527Q(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCAACCCACCGGCGCACAT	0.726													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11604	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											6	8	7					19																	1467881		1968	3934	5902	SO:0001583	missense	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.4581C>G	19.37:g.1467881C>G	ENSP00000442954:p.His1527Gln		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	1.490	-0.554927	0.03967	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.91996	-2.95;-2.59;-2.95	1.92	-3.84	0.04256	.	1.783850	0.03031	N	0.152113	T	0.80665	0.4666	N	0.08118	0	0.24938	N	0.991871	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.72537	-0.4263	10	0.11485	T	0.65	-2.4695	7.9079	0.29774	0.1561:0.2394:0.6045:0.0	.	1526;1527	O95996-3;O95996	.;APC2_HUMAN	Q	1527;1253;1527	ENSP00000233607:H1527Q;ENSP00000238483:H1253Q;ENSP00000442954:H1527Q	ENSP00000233607:H1527Q	H	+	3	2	APC2	1418881	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-2.278000	0.01159	-1.258000	0.02471	0.436000	0.28706	CAC		0.726	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		G	1467881	C	G	1467881	3	3	431	1	0	0	0	0	1	0	0	0	764	506	18	4	4635	4	APC2	19	1467881	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08		1467881	57661102	57	23671											
DNAJB1	3337	hgsc.bcm.edu;ucsc.edu	37	19	14627721	14627722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr19:14627721_14627722insA	ENST00000254322.2	-	2	418_419	c.348_349insT	c.(346-351)tttgggfs	p.G117fs	DNAJB1_ENST00000396969.4_Frame_Shift_Ins_p.G17fs	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	117					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TTCCGCTGCCCAAAAAAGGTGT	0.54																																																0																																										SO:0001589	frameshift_variant	3337			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"Heat shock proteins / DNAJ (HSP40)"	5270	protein-coding gene	gene with protein product	"radial spoke 16 homolog B (Chlamydomonas)"	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.349dupT	19.37:g.14627727_14627727dupA	ENSP00000254322:p.Gly117fs		B4DX52	Frame_Shift_Ins	INS	ENST00000254322.2	37	CCDS12312.1																																																																																				0.54	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		A	14627722	-	A	14627721	7	5	431	1	0	1	1	0	0	0	0	0	4617	594	21	0	681	0	DNAJB1	19	14627721	Frame_Shift_Ins	INS	-	TCGA-BP-5182-01A-01D-1429-08	13159840	14627721	44501262	58	23672											
OR7A10	390892	broad.mit.edu;hgsc.bcm.edu	37	19	14952548	14952548	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr19:14952548C>T	ENST00000248058.1	-	1	141	c.142G>A	c.(142-144)Gcc>Acc	p.A48T		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A48T(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GAGATTGTGGCCAGGATGATG	0.527																																																1	Substitution - Missense(1)	kidney(1)											73	68	70					19																	14952548		2203	4297	6500	SO:0001583	missense	390892				CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.142G>A	19.37:g.14952548C>T	ENSP00000248058:p.Ala48Thr		Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	c	7.491	0.650652	0.14516	.	.	ENSG00000127515	ENST00000248058	T	0.10288	2.89	2.79	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37393	U	0.002110	T	0.12220	0.0297	L	0.39085	1.19	0.09310	N	1	P	0.41947	0.766	P	0.47744	0.556	T	0.07271	-1.0781	10	0.54805	T	0.06	.	8.7414	0.34560	0.0:0.874:0.0:0.126	.	48	O76100	OR7AA_HUMAN	T	48	ENSP00000248058:A48T	ENSP00000248058:A48T	A	-	1	0	OR7A10	14813548	0.000000	0.05858	0.887000	0.34795	0.261000	0.26267	-1.816000	0.01720	0.435000	0.26365	-1.085000	0.02201	GCC		0.527	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		T	14952548	C	T	14952548	3	4	431	1	0	0	0	0	1	0	0	0	11216	739	26	2	791	2	OR7A10	19	14952548	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08	324827	14952548	44176435	59	23673											
JAK3	3718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17945490	17945490	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr19:17945490G>T	ENST00000527670.1	-	16	2269	c.2240C>A	c.(2239-2241)cCc>cAc	p.P747H	JAK3_ENST00000534444.1_Missense_Mutation_p.P747H|JAK3_ENST00000458235.1_Missense_Mutation_p.P747H			P52333	JAK3_HUMAN	Janus kinase 3	747	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.P747H(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGTCCACTTGGGGGCCGGCAG	0.587		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	2	Substitution - Missense(2)	kidney(2)											51	61	57					19																	17945490		2203	4300	6503	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2240C>A	19.37:g.17945490G>T	ENSP00000432511:p.Pro747His		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372305	0.61624	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.86627	-2.15;-2.15;-2.15	4.8	2.24	0.28232	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.294463	0.33161	N	0.005218	D	0.92371	0.7579	M	0.84683	2.71	0.36150	D	0.847383	D;D	0.89917	1.0;0.97	D;P	0.72982	0.979;0.866	D	0.93468	0.6816	10	0.87932	D	0	-22.8649	9.0831	0.36565	0.2304:0.0:0.7696:0.0	.	747;747	P52333-2;P52333	.;JAK3_HUMAN	H	747	ENSP00000391676:P747H;ENSP00000432511:P747H;ENSP00000436421:P747H	ENSP00000391676:P747H	P	-	2	0	JAK3	17806490	1.000000	0.71417	0.957000	0.39632	0.972000	0.66771	5.150000	0.64869	0.981000	0.38548	0.484000	0.47621	CCC		0.587	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		T	17945490	G	T	17945490	3	4	431	1	0	0	0	0	1	0	0	0	7941	1232	43	4	1166	4	JAK3	19	17945490	Missense_Mutation	SNP	G	TCGA-BP-5182-01A-01D-1429-08	2992942	17945490	41183493	60	23674											
ADARB1	104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	46642103	46642103	+	Silent	SNP	C	C	A	rs371097171		TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr21:46642103C>A	ENST00000360697.3	+	10	2232	c.2217C>A	c.(2215-2217)ctC>ctA	p.L739L	ADARB1_ENST00000348831.4_Silent_p.L699L|ADARB1_ENST00000539173.1_Silent_p.L739L|ADARB1_ENST00000389863.4_Intron|ADARB1_ENST00000437626.1_3'UTR			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	739					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L739L(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AGTTCTCACTCACGCCCTGAC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											27	24	25					21																	46642103		2200	4298	6498	SO:0001819	synonymous_variant	104			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.2217C>A	21.37:g.46642103C>A			A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	CCDS33589.1																																																																																				0.647	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		A	46642103	C	A	46642103	2	1	431	1	0	0	0	0	0	0	0	1	282	813	29	4		4	ADARB1	21	46642103	Silent	SNP	C	TCGA-BP-5182-01A-01D-1429-08		46642103	1487792	61	23675											
CLTCL1	8218	broad.mit.edu;hgsc.bcm.edu	37	22	19184099	19184099	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr22:19184099C>A	ENST00000263200.10	-	25	4014	c.3942G>T	c.(3940-3942)atG>atT	p.M1314I	CLTCL1_ENST00000353891.5_Missense_Mutation_p.M1314I|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Missense_Mutation_p.M1314I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1314	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.M1314I(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGAACATGCCCATGTGGGCCC	0.577			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	1	Substitution - Missense(1)	kidney(1)											40	43	42					22																	19184099		2088	4205	6293	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3942G>T	22.37:g.19184099C>A	ENSP00000445677:p.Met1314Ile		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862028	0.71949	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.19938	2.11;2.11;2.11	3.5	3.5	0.40072	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.109437	0.64402	D	0.000014	T	0.50990	0.1648	M	0.86343	2.81	0.80722	D	1	P;D;D;D	0.56287	0.847;0.975;0.975;0.975	P;D;D;D	0.80764	0.842;0.994;0.994;0.994	T	0.61987	-0.6949	10	0.59425	D	0.04	-8.993	15.1691	0.72854	0.0:1.0:0.0:0.0	.	1314;137;137;1314	P53675-2;B7Z1Z7;B7Z2Y4;P53675	.;.;.;CLH2_HUMAN	I	1314	ENSP00000439662:M1314I;ENSP00000445677:M1314I;ENSP00000441158:M1314I	ENSP00000445677:M1314I	M	-	3	0	CLTCL1	17564099	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	6.947000	0.75959	1.802000	0.52723	0.491000	0.48974	ATG		0.577	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		A	19184099	C	A	19184099	3	1	431	1	0	0	0	0	1	0	0	0	3569	594	21	4	1012	4	CLTCL1	22	19184099	Missense_Mutation	SNP	C	TCGA-BP-5182-01A-01D-1429-08		19184099	32120467	62	23676											
LIMK2	3985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	31674310	31674310	+	Silent	SNP	C	C	A			TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr22:31674310C>A	ENST00000331728.4	+	16	1914	c.1800C>A	c.(1798-1800)tcC>tcA	p.S600S	LIMK2_ENST00000333611.4_Silent_p.S579S|LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000444929.2_Silent_p.S354S	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.S600S(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TGGAGGACTCCTTTGAGGCCC	0.577																																																1	Substitution - coding silent(1)	kidney(1)											221	233	229					22																	31674310		2203	4300	6503	SO:0001819	synonymous_variant	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1800C>A	22.37:g.31674310C>A			A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	ENST00000331728.4	37	CCDS13891.1																																																																																				0.577	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		A	31674310	C	A	31674310	2	1	431	1	0	0	0	0	0	0	0	1	8804	668	24	4		4	LIMK2	22	31674310	Silent	SNP	C	TCGA-BP-5182-01A-01D-1429-08	12490211	31674310	19630256	63	23677											
H1F0	3005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38201647	38201647	+	Silent	SNP	C	C	T	rs151035348		TCGA-BP-5182-01A-01D-1429-08	TCGA-BP-5182-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	00523547-da1c-4bb1-a627-c0946849b376	24dc7a15-3446-419c-b2be-75107c669f93	g.chr22:38201647C>T	ENST00000340857.2	+	1	534	c.96C>T	c.(94-96)atC>atT	p.I32I	GCAT_ENST00000323205.6_5'Flank|GCAT_ENST00000248924.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	32	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.I32I(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CAGACATGATCGTGGCTGCCA	0.592																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)											1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	79	78	79		96	4.2	1	22	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	H1F0	NM_005318.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		32/195	38201647	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3005			X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"Histones / Replication-independent"	4714	protein-coding gene	gene with protein product	"H1.0, H1(0), H1-0"	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.96C>T	22.37:g.38201647C>T			B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Silent	SNP	ENST00000340857.2	37	CCDS13956.1																																																																																				0.592	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319453.1	NM_005318		T	38201647	C	T	38201647	2	4	431	1	0	0	0	0	0	0	0	1	6922	874	31	1		1	H1F0	22	38201647	Silent	SNP	C	TCGA-BP-5182-01A-01D-1429-08	6527337	38201647	13102919	64	23678											
SYF2	25949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	25549846	25549846	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr1:25549846T>A	ENST00000236273.4	-	7	668	c.643A>T	c.(643-645)Aat>Tat	p.N215Y	SYF2_ENST00000354361.3_Missense_Mutation_p.N173Y	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	215					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N215Y(1)		kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		AATTTGGCATTCCTTTCATTA	0.358																																																1	Substitution - Missense(1)	kidney(1)											187	192	190					1																	25549846		2203	4300	6503	SO:0001583	missense	25949			AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 29"	607090	"CCNDBP1 interactor", "SYF2 homolog, RNA splicing factor (S. cerevisiae)"	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.643A>T	1.37:g.25549846T>A	ENSP00000236273:p.Asn215Tyr		Q5TH73	Missense_Mutation	SNP	ENST00000236273.4	37	CCDS259.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.658003	0.47467	.	.	ENSG00000117614	ENST00000236273;ENST00000354361	D;D	0.86097	-2.07;-1.74	5.56	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.991	D	0.94191	0.7441	10	0.87932	D	0	-1.7055	10.6532	0.45659	0.0:0.0762:0.0:0.9238	.	215;215	B2RBX8;O95926	.;SYF2_HUMAN	Y	215;173	ENSP00000236273:N215Y;ENSP00000346330:N173Y	ENSP00000236273:N215Y	N	-	1	0	SYF2	25422433	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	7.617000	0.83032	1.049000	0.40321	-0.256000	0.11100	AAT		0.358	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484		A	25549846	T	A	25549846	3	1	432	1	0	0	0	0	1	0	0	0	15442	1783	62	5	92	5	SYF2	1	25549846	Missense_Mutation	SNP	T	TCGA-BP-5183-01A-01D-1429-08		25549846	223700775	1	23679											
CNKSR1	10256	broad.mit.edu;hgsc.bcm.edu	37	1	26514973	26514973	+	Silent	SNP	G	G	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr1:26514973G>A	ENST00000374253.5	+	18	1629	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E	CNKSR1_ENST00000531191.1_Silent_p.E265E|CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000361530.6_Silent_p.E523E	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	530					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.E523E(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CGGACGATGAGGCTGGGTCCC	0.617																																					NSCLC(180;1396 2109 28270 30756 34275)											1	Substitution - coding silent(1)	kidney(1)											17	18	18					1																	26514973		2200	4297	6497	SO:0001819	synonymous_variant	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1590G>A	1.37:g.26514973G>A			B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37																																																																																					0.617	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		A	26514973	G	A	26514973	2	1	432	1	0	0	0	0	0	0	0	1	3608	991	35	2		2	CNKSR1	1	26514973	Silent	SNP	G	TCGA-BP-5183-01A-01D-1429-08	965127	26514973	222735648	2	23680											
RABGGTB	5876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	76254935	76254935	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr1:76254935G>C	ENST00000319942.3	+	3	274	c.203G>C	c.(202-204)aGa>aCa	p.R68T	SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000496055.1_3'UTR|SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000535300.1_5'UTR|SNORD45C_ENST00000383893.1_RNA|RABGGTB_ENST00000370826.3_Missense_Mutation_p.R68T	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	68					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.R68T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CGCATGAATAGAGAAGAGATT	0.383																																																1	Substitution - Missense(1)	kidney(1)											158	148	151					1																	76254935		2203	4300	6503	SO:0001583	missense	5876			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.203G>C	1.37:g.76254935G>C	ENSP00000317473:p.Arg68Thr		Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	CCDS669.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346727	0.41599	.	.	ENSG00000137955	ENST00000319942;ENST00000370824;ENST00000370826	T;T	0.47528	0.84;0.84	4.79	2.86	0.33363	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.327957	0.34223	N	0.004149	T	0.23014	0.0556	L	0.58969	1.84	0.80722	D	1	B;B	0.12630	0.006;0.001	B;B	0.16722	0.011;0.016	T	0.12268	-1.0554	10	0.45353	T	0.12	-16.2955	5.2469	0.15502	0.4304:0.0:0.5696:0.0	.	68;68	Q59GT6;P53611	.;PGTB2_HUMAN	T	68	ENSP00000317473:R68T;ENSP00000359862:R68T	ENSP00000317473:R68T	R	+	2	0	RABGGTB	76027523	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.573000	0.36472	0.967000	0.38186	0.563000	0.77884	AGA		0.383	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		C	76254935	G	C	76254935	3	2	432	1	0	0	0	0	1	0	0	0	12974	942	33	4	213	4	RABGGTB	1	76254935	Missense_Mutation	SNP	G	TCGA-BP-5183-01A-01D-1429-08	49739962	76254935	172995686	3	23681											
NOS1AP	9722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	162324977	162324977	+	Splice_Site	SNP	G	G	T			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr1:162324977G>T	ENST00000361897.5	+	7	998	c.596G>T	c.(595-597)gGc>gTc	p.G199V	NOS1AP_ENST00000530878.1_Splice_Site_p.G194V	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	199					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.G199V(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GTTCCTGCAGGCCGCCAGCTC	0.557																																																2	Substitution - Missense(2)	kidney(2)											56	57	57					1																	162324977		2203	4300	6503	SO:0001630	splice_region_variant	9722			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.596-1G>T	1.37:g.162324977G>T			B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530852	0.45073	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.77098	-1.07;-1.07	5.41	4.47	0.54385	.	0.327097	0.31370	N	0.007767	T	0.53384	0.1793	L	0.46157	1.445	.	.	.	P;B;B	0.35077	0.483;0.02;0.02	B;B;B	0.27887	0.084;0.01;0.01	T	0.57100	-0.7869	8	.	.	.	.	11.1261	0.48320	0.0:0.2849:0.7151:0.0	.	194;194;199	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	V	194;199	ENSP00000431586:G194V;ENSP00000355133:G199V	.	G	+	2	0	NOS1AP	160591601	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.528000	0.35985	2.523000	0.85059	0.655000	0.94253	GGC		0.557	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697	Missense_Mutation	T	162324977	G	T	162324977	5	4	432	1	0	0	0	0	0	0	1	0	10544	1217	42	4	622	4	NOS1AP	1	162324977	Splice_Site	SNP	G	TCGA-BP-5183-01A-01D-1429-08	86070042	162324977	86925644	4	23682											
TPR	7175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186302399	186302399	+	Silent	SNP	T	T	C			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr1:186302399T>C	ENST00000367478.4	-	37	5606	c.5310A>G	c.(5308-5310)acA>acG	p.T1770T		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1770					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.T1770T(1)|p.T1771T(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTGTAGCCTGTGTTTGTTGCT	0.423			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - coding silent(2)	kidney(2)											159	153	155					1																	186302399		1922	4125	6047	SO:0001819	synonymous_variant	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5310A>G	1.37:g.186302399T>C			Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	CCDS41446.1																																																																																				0.423	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		C	186302399	T	C	186302399	2	2	432	1	0	0	0	0	0	0	0	1	16421	1683	59	3		3	TPR	1	186302399	Silent	SNP	T	TCGA-BP-5183-01A-01D-1429-08	23977422	186302399	62948222	5	23683											
RPS6KC1	26750	broad.mit.edu;hgsc.bcm.edu	37	1	213349818	213349818	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr1:213349818C>G	ENST00000366960.3	+	8	1177	c.1027C>G	c.(1027-1029)Ctt>Gtt	p.L343V	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L46V|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L331V|RPS6KC1_ENST00000543470.1_Intron|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	343					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.L343V(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTTCAGAGTCCTTGGGGTGAT	0.448																																																1	Substitution - Missense(1)	kidney(1)											129	125	126					1																	213349818		2203	4300	6503	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1027C>G	1.37:g.213349818C>G	ENSP00000355927:p.Leu343Val		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738593	0.69304	.	.	ENSG00000136643	ENST00000366960;ENST00000366959;ENST00000543354	T;T;T	0.52526	1.26;1.27;0.66	5.86	5.86	0.93980	.	0.068202	0.64402	D	0.000014	T	0.60625	0.2283	L	0.41632	1.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.48352	-0.9043	10	0.13853	T	0.58	-36.3423	20.1859	0.98214	0.0:1.0:0.0:0.0	.	343;331	Q96S38;B1APS8	KS6C1_HUMAN;.	V	343;331;46	ENSP00000355927:L343V;ENSP00000355926:L331V;ENSP00000439282:L46V	ENSP00000355926:L331V	L	+	1	0	RPS6KC1	211416441	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.649000	0.61433	2.777000	0.95525	0.591000	0.81541	CTT		0.448	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		G	213349818	C	G	213349818	3	3	432	1	0	0	0	0	1	0	0	0	13664	681	24	4	1057	4	RPS6KC1	1	213349818	Missense_Mutation	SNP	C	TCGA-BP-5183-01A-01D-1429-08	27047419	213349818	35900803	6	23684											
ARF1	375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	228285075	228285075	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr1:228285075A>C	ENST00000541182.1	+	3	443	c.181A>C	c.(181-183)Atc>Ctc	p.I61L	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.I61L|ARF1_ENST00000540651.1_Missense_Mutation_p.I61L|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	61					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.I61L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				GTACAAGAACATCAGCTTCAC	0.627																																																1	Substitution - Missense(1)	kidney(1)											94	91	92					1																	228285075		2203	4300	6503	SO:0001583	missense	375			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"ADP-ribosylation factors", "Endogenous ligands"	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.181A>C	1.37:g.228285075A>C	ENSP00000440005:p.Ile61Leu		P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151767	0.57151	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.61859	0.07;0.07;0.07	5.25	4.11	0.48088	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000012	T	0.47673	0.1458	L	0.31845	0.965	0.80722	D	1	B	0.06786	0.001	B	0.20577	0.03	T	0.44772	-0.9306	10	0.62326	D	0.03	-23.2715	12.645	0.56729	0.8617:0.1383:0.0:0.0	.	61	P84077	ARF1_HUMAN	L	61	ENSP00000272102:I61L;ENSP00000442980:I61L;ENSP00000440005:I61L	ENSP00000272102:I61L	I	+	1	0	ARF1	226351698	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.228000	0.78079	1.093000	0.41377	0.482000	0.46254	ATC		0.627	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		C	228285075	A	C	228285075	3	2	432	1	0	0	0	0	1	0	0	0	844	217	8	5	187	5	ARF1	1	228285075	Missense_Mutation	SNP	A	TCGA-BP-5183-01A-01D-1429-08	14935257	228285075	20965546	7	23685											
ZFP36L2	678	hgsc.bcm.edu	37	2	43452740	43452740	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr2:43452740G>A	ENST00000282388.3	-	2	496	c.203C>T	c.(202-204)gCg>gTg	p.A68V	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	68					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGGCTGGGCGCGGGGTGGGC	0.766																																																0													4	6	5					2																	43452740		1893	3795	5688	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.203C>T	2.37:g.43452740G>A	ENSP00000282388:p.Ala68Val		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821679	0.50633	.	.	ENSG00000152518	ENST00000282388	T	0.47177	0.85	5.13	3.1	0.35709	Tis11B-like protein, N-terminal (1);	0.694656	0.12501	N	0.463370	T	0.25419	0.0618	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.06534	-1.0821	10	0.14252	T	0.57	-9.0207	7.0806	0.25229	0.0979:0.0:0.6793:0.2228	.	68	P47974	TISD_HUMAN	V	68	ENSP00000282388:A68V	ENSP00000282388:A68V	A	-	2	0	ZFP36L2	43306244	0.809000	0.29036	1.000000	0.80357	0.934000	0.57294	1.496000	0.35638	1.151000	0.42436	0.462000	0.41574	GCG		0.766	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		A	43452740	G	A	43452740	3	1	432	1	0	0	0	0	1	0	0	0	17652	1087	38	1	1285	1	ZFP36L2	2	43452740	Missense_Mutation	SNP	G	TCGA-BP-5183-01A-01D-1429-08		43452740	199746633	8	23686											
XPO1	7514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61709537	61709537	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr2:61709537A>G	ENST00000401558.2	-	23	3677	c.2950T>C	c.(2950-2952)Tcg>Ccg	p.S984P	RP11-355B11.2_ENST00000603199.1_RNA|XPO1_ENST00000406957.1_Missense_Mutation_p.S984P|XPO1_ENST00000404992.2_Missense_Mutation_p.S984P|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000605437.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603652.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	984					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.S984P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GGGAAGGCCGACTTAAGGAGA	0.398			Mis		CLL																																	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	1	Substitution - Missense(1)	kidney(1)											131	132	132					2																	61709537		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2950T>C	2.37:g.61709537A>G	ENSP00000384863:p.Ser984Pro		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.409070	0.62399	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66638	-0.22;-0.22;-0.22	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.055426	0.85682	D	0.000000	T	0.67998	0.2953	M	0.75615	2.305	0.54753	D	0.999989	B;B	0.27882	0.192;0.124	B;B	0.25506	0.025;0.061	T	0.69544	-0.5117	10	0.66056	D	0.02	-16.6961	15.8252	0.78698	1.0:0.0:0.0:0.0	.	631;984	B3KWD0;O14980	.;XPO1_HUMAN	P	984	ENSP00000384863:S984P;ENSP00000385942:S984P;ENSP00000385559:S984P	ENSP00000384863:S984P	S	-	1	0	XPO1	61563041	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.312000	0.65792	2.197000	0.70478	0.482000	0.46254	TCG		0.398	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		G	61709537	A	G	61709537	3	3	432	1	0	0	0	0	1	0	0	0	17450	275	10	3	277	3	XPO1	2	61709537	Missense_Mutation	SNP	A	TCGA-BP-5183-01A-01D-1429-08	18256797	61709537	181489836	9	23687											
HOXD11	3237	broad.mit.edu	37	2	176972132	176972132	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr2:176972132C>T	ENST00000249504.5	+	1	119	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S	HOXD11_ENST00000498438.1_Intron|AC009336.1_ENST00000401374.2_RNA	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	17					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P17S(1)						OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CATGTACCTGCCGGGCTGCGC	0.637			T	NUP98	AML																																		Dom	yes		2	2q31-q32	3237	homeo box D11		L	1	Substitution - Missense(1)	kidney(1)											30	26	28					2																	176972132		2198	4292	6490	SO:0001583	missense	3237				CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"Homeoboxes / ANTP class : HOXL subclass"	5134	protein-coding gene	gene with protein product		142986	"homeo box D11"	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.49C>T	2.37:g.176972132C>T	ENSP00000249504:p.Pro17Ser		A6NIS4|Q9NS02	Missense_Mutation	SNP	ENST00000249504.5	37	CCDS2265.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290824	0.80914	.	.	ENSG00000128713	ENST00000249504;ENST00000392538	D	0.98474	-4.95	3.63	3.63	0.41609	.	0.000000	0.32328	U	0.006255	D	0.98937	0.9639	M	0.88450	2.955	0.54753	D	0.999987	D	0.89917	1.0	D	0.70227	0.968	D	0.99486	1.0949	10	0.87932	D	0	.	15.0743	0.72066	0.0:1.0:0.0:0.0	.	17	P31277	HXD11_HUMAN	S	17;4	ENSP00000249504:P17S	ENSP00000249504:P17S	P	+	1	0	HOXD11	176680378	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.921000	0.75805	1.860000	0.53959	0.400000	0.26472	CCG		0.637	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359250.2			T	176972132	C	T	176972132	3	4	432	1	0	0	0	0	1	0	0	0	7322	739	26	2	51	2	HOXD11	2	176972132	Missense_Mutation	SNP	C	TCGA-BP-5183-01A-01D-1429-08	115262595	176972132	66227241	10	23688											
ABI2	10152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	204281636	204281636	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr2:204281636G>T	ENST00000422511.2	+	10	1130	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y	ABI2_ENST00000430574.1_3'UTR|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.D394Y|ABI2_ENST00000295851.5_Missense_Mutation_p.D400Y|ABI2_ENST00000261017.5_Missense_Mutation_p.D362Y|ABI2_ENST00000430418.1_Missense_Mutation_p.D345Y|ABI2_ENST00000261016.6_Missense_Mutation_p.D288Y|ABI2_ENST00000261018.7_Missense_Mutation_p.D186Y			Q9NYB9	ABI2_HUMAN	abl-interactor 2	400	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)	p.D362Y(1)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CTTAGTTTCAGATACACCACC	0.458																																																1	Substitution - Missense(1)	kidney(1)											107	103	104					2																	204281636		2203	4300	6503	SO:0001583	missense	10152			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1099G>T	2.37:g.204281636G>T	ENSP00000396249:p.Asp367Tyr		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.238968|4.238968	0.79800|0.79800	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018|ENST00000454023	T;T;T;T;T;T;T;T|.	0.41400|.	1.12;1.04;1.32;1.13;1.01;1.27;1.12;1.0|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.333480|.	0.37761|.	N|.	0.001945|.	T|T	0.76212|0.76212	0.3956|0.3956	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	P;D;P;P;P;P;P;B|.	0.55385|.	0.897;0.971;0.823;0.925;0.799;0.946;0.877;0.313|.	P;P;P;P;B;P;P;B|.	0.56960|.	0.492;0.707;0.492;0.81;0.226;0.714;0.65;0.272|.	T|T	0.72394|0.72394	-0.4307|-0.4307	10|5	0.62326|.	D|.	0.03|.	-21.2947|-21.2947	20.5666|20.5666	0.99351|0.99351	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	264;125;277;394;345;288;400;362|.	B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2|.	.;.;.;.;.;.;ABI2_HUMAN;.|.	Y|H	400;362;345;394;288;400;367;186|179	ENSP00000295851:D400Y;ENSP00000261017:D362Y;ENSP00000408898:D345Y;ENSP00000391433:D394Y;ENSP00000261016:D288Y;ENSP00000414703:D400Y;ENSP00000396249:D367Y;ENSP00000261018:D186Y|.	ENSP00000261016:D288Y|.	D|Q	+|+	1|3	0|2	ABI2|ABI2	203989881|203989881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	7.366000|7.366000	0.79548|0.79548	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAT|CAG		0.458	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		T	204281636	G	T	204281636	3	4	432	1	0	0	0	0	1	0	0	0	89	942	33	4	1118	4	ABI2	2	204281636	Missense_Mutation	SNP	G	TCGA-BP-5183-01A-01D-1429-08	27309504	204281636	38917737	11	23689											
CAB39	51719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	231682474	231682474	+	Silent	SNP	C	C	T			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr2:231682474C>T	ENST00000258418.5	+	8	1128	c.699C>T	c.(697-699)ctC>ctT	p.L233L	CAB39_ENST00000410084.3_Silent_p.L233L|CAB39_ENST00000409788.3_Silent_p.L233L	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	233					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)	p.L233L(1)		central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CTCAGCTTCTCGGTGAACTAC	0.289																																																1	Substitution - coding silent(1)	kidney(1)											74	78	77					2																	231682474		2203	4300	6503	SO:0001819	synonymous_variant	51719			AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.699C>T	2.37:g.231682474C>T			A8K8L7	Silent	SNP	ENST00000258418.5	37	CCDS2478.1																																																																																				0.289	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289		T	231682474	C	T	231682474	2	4	432	1	0	0	0	0	0	0	0	1	2527	871	31	1		1	CAB39	2	231682474	Silent	SNP	C	TCGA-BP-5183-01A-01D-1429-08	27400838	231682474	11516899	12	23690											
SH3BP4	23677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	235949909	235949910	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr2:235949909_235949910delCA	ENST00000409212.1	+	4	1003_1004	c.496_497delCA	c.(496-498)cagfs	p.Q166fs	SH3BP4_ENST00000344528.4_Frame_Shift_Del_p.Q166fs|SH3BP4_ENST00000392011.2_Frame_Shift_Del_p.Q166fs			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	166					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GAATGGGGTCCAGACCAATCCA	0.505																																																0																																										SO:0001589	frameshift_variant	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.496_497delCA	2.37:g.235949909_235949910delCA	ENSP00000386862:p.Gln166fs		O95082|Q309A3|Q53QD0|Q53TD1	Frame_Shift_Del	DEL	ENST00000409212.1	37	CCDS2513.1																																																																																				0.505	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			-	235949910	CA	-	235949909	7	5	432	1	0	1	0	1	0	0	0	0	14252	595	21	0	502	0	SH3BP4	2	235949909	Frame_Shift_Del	DEL	CA	TCGA-BP-5183-01A-01D-1429-08	4267435	235949909	7249464	13	23691											
CXCR7	57007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	237489349	237489349	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr2:237489349T>A	ENST00000272928.3	+	2	551	c.241T>A	c.(241-243)Tgc>Agc	p.C81S		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	81					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.C81S(1)									TGACACGCACTGCTACATCTT	0.547																																																1	Substitution - Missense(1)	kidney(1)											176	145	155					2																	237489349		2203	4300	6503	SO:0001583	missense	57007			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.241T>A	2.37:g.237489349T>A	ENSP00000272928:p.Cys81Ser		A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642936	0.47153	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.71934	-0.61;-0.61	5.57	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.331373	0.31760	N	0.007107	T	0.46464	0.1394	N	0.08118	0	0.38843	D	0.956105	B	0.25007	0.116	B	0.28011	0.085	T	0.50432	-0.8829	10	0.59425	D	0.04	.	3.2466	0.06799	0.0:0.3479:0.0:0.6521	.	81	P25106	CXCR7_HUMAN	S	81	ENSP00000405945:C81S;ENSP00000272928:C81S	ENSP00000272928:C81S	C	+	1	0	CXCR7	237154088	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.052000	0.49893	2.117000	0.64856	0.460000	0.39030	TGC		0.547	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		A	237489349	T	A	237489349	3	1	432	1	0	0	0	0	1	0	0	0	4098	1580	55	5	243	5	CXCR7	2	237489349	Missense_Mutation	SNP	T	TCGA-BP-5183-01A-01D-1429-08	1539440	237489349	5710024	14	23692											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188248	10188248	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr3:10188248delA	ENST00000256474.2	+	2	1231	c.391delA	c.(391-393)aacfs	p.N131fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	131	Involved in binding to CCT complex.		N -> K (in VHLD; type I). {ECO:0000269|PubMed:9829912}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N131fs*28(2)|p.N131fs*2(2)|p.N131Y(2)|p.N131*(1)|p.H125fs*27(1)|p.?fs(1)|p.V130fs*28(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCTTCTGGTTAACCAAACTGA	0.458		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Deletion - Frameshift(5)|Insertion - Frameshift(3)|Substitution - Missense(2)	kidney(10)											206	190	195					3																	10188248		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.391delA	3.37:g.10188248delA	ENSP00000256474:p.Asn131fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.458	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188248	A	-	10188248	7	5	432	1	0	1	0	1	0	0	0	0	17167	362	13	0	397	0	VHL	3	10188248	Frame_Shift_Del	DEL	A	TCGA-BP-5183-01A-01D-1429-08		10188248	187834182	15	23693											
ITGA9	3680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	37821430	37821442	+	Frame_Shift_Del	DEL	ACTGTAACTTTAG	ACTGTAACTTTAG	-			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	ACTGTAACTTTAG	ACTGTAACTTTAG	ACTGTAACTTTAG	-	ACTGTAACTTTAG	ACTGTAACTTTAG	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr3:37821430_37821442delACTGTAACTTTAG	ENST00000264741.5	+	25	2961_2973	c.2705_2717delACTGTAACTTTAG	c.(2704-2718)cactgtaactttagtfs	p.HCNFS902fs	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	902					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTAACAGCACACTGTAACTTTAGTGCTCTTGCT	0.371																																																0																																										SO:0001589	frameshift_variant	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2705_2717delACTGTAACTTTAG	3.37:g.37821430_37821442delACTGTAACTTTAG	ENSP00000264741:p.His902fs		Q14638	Frame_Shift_Del	DEL	ENST00000264741.5	37	CCDS2669.1																																																																																				0.371	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		-	37821442	ACTGTAACTTTAG	-	37821430	7	5	432	1	0	1	0	1	0	0	0	0	7885	159	6	0	2803	0	ITGA9	3	37821430	Frame_Shift_Del	DEL	ACTGTAACTTTAG	TCGA-BP-5183-01A-01D-1429-08	27633182	37821430	160201000	16	23694											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52651382	52651383	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr3:52651382_52651383insA	ENST00000296302.7	-	14	1714_1715	c.1713_1714insT	c.(1711-1716)attgagfs	p.E572fs	PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.E587fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.E587fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.E572fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.E572fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.E572fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.E572fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.E540fs			Q86U86	PB1_HUMAN	polybromo 1	572	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E572fs*16(2)|p.E540fs*16(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTTATGCTCAATTATTTTCA	0.401			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Insertion - Frameshift(3)	kidney(3)																																								SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1714dupT	3.37:g.52651384_52651384dupA	ENSP00000296302:p.Glu572fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	INS	ENST00000296302.7	37																																																																																					0.401	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52651383	-	A	52651382	7	5	432	1	0	1	1	0	0	0	0	0	11493	835	29	0	3254	0	PBRM1	3	52651382	Frame_Shift_Ins	INS	-	TCGA-BP-5183-01A-01D-1429-08	14829952	52651382	145371048	17	23695											
RAPGEF6	51735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	130841087	130841087	+	Silent	SNP	T	T	G			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr5:130841087T>G	ENST00000509018.1	-	10	1276	c.1071A>C	c.(1069-1071)ggA>ggC	p.G357G	RAPGEF6_ENST00000510071.1_Silent_p.G357G|RAPGEF6_ENST00000512052.1_Silent_p.G72G|CTC-432M15.3_ENST00000514667.1_Silent_p.G407G|RAPGEF6_ENST00000296859.6_Silent_p.G357G|RAPGEF6_ENST00000307984.5_Silent_p.G357G|RAPGEF6_ENST00000507093.1_Silent_p.G357G|RAPGEF6_ENST00000308008.6_Silent_p.G357G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	357					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.G357G(3)|p.G407G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCCTGACAATTCCATGCATGT	0.383																																					Melanoma(168;435 1955 13113 13877 23213)											4	Substitution - coding silent(4)	kidney(4)											120	115	117					5																	130841087		2203	4300	6503	SO:0001819	synonymous_variant	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1071A>C	5.37:g.130841087T>G			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	CCDS34225.1																																																																																				0.383	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		G	130841087	T	G	130841087	2	3	432	1	0	0	0	0	0	0	0	1	13054	1770	62	5		5	RAPGEF6	5	130841087	Silent	SNP	T	TCGA-BP-5183-01A-01D-1429-08		130841087	50074173	18	23696											
TRERF1	55809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	42232448	42232448	+	Silent	SNP	G	G	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr6:42232448G>A	ENST00000372922.4	-	7	2191	c.1629C>T	c.(1627-1629)ctC>ctT	p.L543L	TRERF1_ENST00000354325.2_Silent_p.L543L|TRERF1_ENST00000372917.4_Silent_p.L543L|TRERF1_ENST00000340840.2_Silent_p.L543L|TRERF1_ENST00000541110.1_Silent_p.L543L	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	543	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L543L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TAACCTGTTTGAGGTTGGGGG	0.582																																																1	Substitution - coding silent(1)	kidney(1)											82	76	78					6																	42232448		2203	4300	6503	SO:0001819	synonymous_variant	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1629C>T	6.37:g.42232448G>A			Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	CCDS4867.1																																																																																				0.582	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		A	42232448	G	A	42232448	2	1	432	1	0	0	0	0	0	0	0	1	16480	1277	45	2		2	TRERF1	6	42232448	Silent	SNP	G	TCGA-BP-5183-01A-01D-1429-08		42232448	128882619	19	23697											
PGAM2	5224	hgsc.bcm.edu;ucsc.edu	37	7	44104731	44104735	+	Frame_Shift_Del	DEL	TAGTA	TAGTA	-			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	TAGTA	TAGTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr7:44104731_44104735delTAGTA	ENST00000297283.3	-	1	451_455	c.394_398delTACTA	c.(394-399)tactacfs	p.YY132fs	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	132					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						AATGGAGTTGTAGTAGGGGTGCTTC	0.634																																																0																																										SO:0001589	frameshift_variant	5224				CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.394_398delTACTA	7.37:g.44104731_44104735delTAGTA	ENSP00000297283:p.Tyr132fs			Frame_Shift_Del	DEL	ENST00000297283.3	37	CCDS34624.1																																																																																				0.634	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			-	44104735	TAGTA	-	44104731	7	5	432	1	0	1	0	1	0	0	0	0	11776	1638	57	0	375	0	PGAM2	7	44104731	Frame_Shift_Del	DEL	TAGTA	TCGA-BP-5183-01A-01D-1429-08		44104731	115033932	20	23698											
MCPH1	79648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	6302771	6302771	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr8:6302771T>G	ENST00000344683.5	+	8	1604	c.1528T>G	c.(1528-1530)Tgt>Ggt	p.C510G	MCPH1_ENST00000522905.1_Missense_Mutation_p.C462G|MCPH1_ENST00000519480.1_Missense_Mutation_p.C510G	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	510					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.C510G(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CCTAAGGTGTTGTAGACAGGC	0.493																																					Colon(95;1448 1467 8277 34473 35819)											1	Substitution - Missense(1)	kidney(1)											83	85	84					8																	6302771		1914	4122	6036	SO:0001583	missense	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1528T>G	8.37:g.6302771T>G	ENSP00000342924:p.Cys510Gly		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	T	4.410	0.075685	0.08485	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.14640	2.49;2.49;2.49	5.2	-10.4	0.00318	.	1.546610	0.03657	N	0.242057	T	0.06508	0.0167	N	0.16166	0.38	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.20577	0.003;0.03;0.002	T	0.19353	-1.0308	10	0.15952	T	0.53	5.2015	8.6649	0.34114	0.0:0.4232:0.33:0.2468	.	462;510;510	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	G	510;510;462	ENSP00000342924:C510G;ENSP00000430962:C510G;ENSP00000430768:C462G	ENSP00000342924:C510G	C	+	1	0	MCPH1	6290179	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.111000	0.01333	-2.533000	0.00490	-0.291000	0.09656	TGT		0.493	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		G	6302771	T	G	6302771	3	3	432	1	0	0	0	0	1	0	0	0	9400	1812	63	5	1558	5	MCPH1	8	6302771	Missense_Mutation	SNP	T	TCGA-BP-5183-01A-01D-1429-08		6302771	140061251	21	23699											
CTSB	1508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	11710155	11710155	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr8:11710155C>A	ENST00000353047.6	-	3	429	c.176G>T	c.(175-177)tGt>tTt	p.C59F	CTSB_ENST00000345125.3_Missense_Mutation_p.C59F|CTSB_ENST00000415599.2_Missense_Mutation_p.C59F|CTSB_ENST00000434271.1_Missense_Mutation_p.C59F|CTSB_ENST00000533455.1_Missense_Mutation_p.C59F|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000453527.2_Missense_Mutation_p.C59F|CTSB_ENST00000531089.1_Missense_Mutation_p.C59F|CTSB_ENST00000530640.2_Missense_Mutation_p.C59F|CTSB_ENST00000534510.1_Missense_Mutation_p.C59F	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	59					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.C59F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GAAGGTACCACATAGCCTCTT	0.597																																																1	Substitution - Missense(1)	kidney(1)											134	102	113					8																	11710155		2203	4300	6503	SO:0001583	missense	1508			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"Cathepsins"	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.176G>T	8.37:g.11710155C>A	ENSP00000345672:p.Cys59Phe		B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820223	0.71028	.	.	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000415599;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645;ENST00000530573;ENST00000505496;ENST00000524500;ENST00000531502;ENST00000527215;ENST00000532656;ENST00000534382	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.85	5.85	0.93711	Peptidase C1A, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69859	-0.5031	10	0.46703	T	0.11	.	19.1459	0.93467	0.0:1.0:0.0:0.0	.	59	P07858	CATB_HUMAN	F	59	ENSP00000415889:C59F;ENSP00000345672:C59F;ENSP00000435105:C59F;ENSP00000433215:C59F;ENSP00000409917:C59F;ENSP00000411254:C59F;ENSP00000342070:C59F;ENSP00000432244:C59F;ENSP00000434217:C59F;ENSP00000436159:C59F;ENSP00000433995:C59F;ENSP00000435074:C59F;ENSP00000436627:C59F;ENSP00000434725:C59F;ENSP00000436122:C59F;ENSP00000431518:C59F;ENSP00000435650:C59F;ENSP00000436074:C59F;ENSP00000435886:C59F;ENSP00000431143:C59F;ENSP00000435260:C59F	ENSP00000342070:C59F	C	-	2	0	CTSB	11747564	1.000000	0.71417	0.999000	0.59377	0.448000	0.32197	6.916000	0.75776	2.767000	0.95098	0.655000	0.94253	TGT		0.597	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		A	11710155	C	A	11710155	3	1	432	1	0	0	0	0	1	0	0	0	4032	478	17	4	875	4	CTSB	8	11710155	Missense_Mutation	SNP	C	TCGA-BP-5183-01A-01D-1429-08	5407384	11710155	134653867	22	23700											
DOCK5	80005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	25167945	25167945	+	Silent	SNP	C	C	G			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr8:25167945C>G	ENST00000276440.7	+	13	1259	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	405					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L405L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCTTGAAGCTCTTGCCCGGTG	0.403																																					Pancreas(145;34 1887 3271 10937 30165)											1	Substitution - coding silent(1)	kidney(1)											89	90	89					8																	25167945		2203	4300	6503	SO:0001819	synonymous_variant	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1215C>G	8.37:g.25167945C>G			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	4.442	0.081738	0.08533	.	.	ENSG00000147459	ENST00000444569	T	0.17370	2.28	6.08	-12.2	0.00006	.	0.000000	0.64402	D	0.000002	T	0.12050	0.0293	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65990	-0.6034	7	0.27082	T	0.32	.	6.7632	0.23552	0.0716:0.3212:0.3671:0.2401	.	.	.	.	V	177	ENSP00000414125:L177V	ENSP00000414125:L177V	L	+	1	0	DOCK5	25223862	0.000000	0.05858	0.001000	0.08648	0.751000	0.42716	-2.813000	0.00753	-4.535000	0.00043	-2.033000	0.00422	CTT		0.403	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		G	25167945	C	G	25167945	2	3	432	1	0	0	0	0	0	0	0	1	4692	900	32	4		4	DOCK5	8	25167945	Silent	SNP	C	TCGA-BP-5183-01A-01D-1429-08	13457790	25167945	121196077	23	23701											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113650949	113650949	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr8:113650949C>A	ENST00000297405.5	-	21	3746	c.3502G>T	c.(3502-3504)Gaa>Taa	p.E1168*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E1168*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.E1064*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E1128*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1168	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1168*(1)|p.E1128*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTAAATCCTTCATATGATATT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - Nonsense(2)	kidney(2)											51	53	53					8																	113650949		2202	4300	6502	SO:0001587	stop_gained	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3502G>T	8.37:g.113650949C>A	ENSP00000297405:p.Glu1168*		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	45	11.547935	0.99574	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.91	4.91	0.64330	.	0.149187	0.44902	D	0.000417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	18.4581	0.90728	0.0:1.0:0.0:0.0	.	.	.	.	X	1128;1168;508;1064;1168	.	ENSP00000297405:E1168X	E	-	1	0	CSMD3	113720125	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.772000	0.62324	2.448000	0.82819	0.491000	0.48974	GAA		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113650949	C	A	113650949	4	1	432	1	0	0	0	0	0	1	0	0	3948	835	29	4	7825	4	CSMD3	8	113650949	Nonsense_Mutation	SNP	C	TCGA-BP-5183-01A-01D-1429-08	88483004	113650949	32713073	24	23702											
FAM83A	84985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	124204063	124204063	+	Silent	SNP	T	T	C			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr8:124204063T>C	ENST00000518448.1	+	3	2515	c.501T>C	c.(499-501)gaT>gaC	p.D167D	FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000276699.6_Silent_p.D167D|FAM83A_ENST00000536633.1_Silent_p.D167D|FAM83A_ENST00000318462.6_Silent_p.D167D|FAM83A_ENST00000522648.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	167								p.D167D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCCTGATGGATGTGTTCACGG	0.557																																																1	Substitution - coding silent(1)	kidney(1)											218	197	204					8																	124204063		2203	4300	6503	SO:0001819	synonymous_variant	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.501T>C	8.37:g.124204063T>C			Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	37	CCDS6340.1																																																																																				0.557	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		C	124204063	T	C	124204063	2	2	432	1	0	0	0	0	0	0	0	1	5635	1461	51	3		3	FAM83A	8	124204063	Silent	SNP	T	TCGA-BP-5183-01A-01D-1429-08	10553114	124204063	22159959	25	23703											
FREM1	158326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	14748627	14748627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr9:14748627delA	ENST00000380880.3	-	31	6351	c.5568delT	c.(5566-5568)catfs	p.H1856fs	FREM1_ENST00000380881.4_Frame_Shift_Del_p.H1857fs|FREM1_ENST00000380894.1_Frame_Shift_Del_p.H392fs|FREM1_ENST00000422223.2_Frame_Shift_Del_p.H1856fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1856					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AATATGAAGGATGGCATTGTC	0.507																																																0													205	211	209					9																	14748627		2070	4215	6285	SO:0001589	frameshift_variant	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5568delT	9.37:g.14748627delA	ENSP00000370262:p.His1856fs		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Del	DEL	ENST00000380880.3	37	CCDS47952.1																																																																																				0.507	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		-	14748627	A	-	14748627	7	5	432	1	0	1	0	1	0	0	0	0	6046	330	12	0	999	0	FREM1	9	14748627	Frame_Shift_Del	DEL	A	TCGA-BP-5183-01A-01D-1429-08		14748627	126464804	26	23704											
C9orf114	51490	broad.mit.edu	37	9	131587330	131587330	+	Splice_Site	DEL	T	T	-			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr9:131587330delT	ENST00000361256.5	-	8	680		c.e8-2			NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114								poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						CTTCACCTCCTGGGGAGAAGC	0.617																																																0													19	19	19					9																	131587330		2195	4289	6484	SO:0001630	splice_region_variant	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.640-2A>-	9.37:g.131587330delT			Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Splice_Site	DEL	ENST00000361256.5	37	CCDS6913.1																																																																																				0.617	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390	Intron	-	131587330	T	-	131587330	8	5	432	1	0	1	0	1	0	0	1	0	2451	1594	55	0	512	0	C9orf114	9	131587330	Splice_Site	DEL	T	TCGA-BP-5183-01A-01D-1429-08	116838703	131587330	9626101	27	23705											
CHAT	1103	broad.mit.edu;hgsc.bcm.edu	37	10	50833615	50833615	+	Silent	SNP	C	C	T			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr10:50833615C>T	ENST00000337653.2	+	6	1002	c.849C>T	c.(847-849)ccC>ccT	p.P283P	CHAT_ENST00000455728.2_Silent_p.P165P|CHAT_ENST00000339797.1_Silent_p.P165P|CHAT_ENST00000395562.2_Silent_p.P201P|CHAT_ENST00000351556.3_Silent_p.P165P|CHAT_ENST00000395559.2_Silent_p.P165P	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	283					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.P283P(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	ACCGGCTCCCCGGCCATACCC	0.587																																																1	Substitution - coding silent(1)	kidney(1)											47	36	40					10																	50833615		2203	4300	6503	SO:0001819	synonymous_variant	1103			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.849C>T	10.37:g.50833615C>T			A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	CCDS7232.1																																																																																				0.587	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		T	50833615	C	T	50833615	2	4	432	1	0	0	0	0	0	0	0	1	3315	639	23	1		1	CHAT	10	50833615	Silent	SNP	C	TCGA-BP-5183-01A-01D-1429-08		50833615	84701132	28	23706											
VWA2	340706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	116038497	116038497	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr10:116038497delC	ENST00000392982.3	+	8	970	c.720delC	c.(718-720)cacfs	p.H240fs	VWA2_ENST00000603594.1_Frame_Shift_Del_p.H240fs			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	240					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TCGAGGCTCACCCCTGTGAGC	0.647																																																0													118	92	100					10																	116038497		2203	4300	6503	SO:0001589	frameshift_variant	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.720delC	10.37:g.116038497delC	ENSP00000376708:p.His240fs		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Frame_Shift_Del	DEL	ENST00000392982.3	37																																																																																					0.647	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		-	116038497	C	-	116038497	7	5	432	1	0	1	0	1	0	0	0	0	17244	506	18	0	746	0	VWA2	10	116038497	Frame_Shift_Del	DEL	C	TCGA-BP-5183-01A-01D-1429-08	65204882	116038497	19496250	29	23707											
LRP5	4041	broad.mit.edu;ucsc.edu	37	11	68181463	68181474	+	In_Frame_Del	DEL	GCAGCCGCAACT	GCAGCCGCAACT	-	rs369139308|rs376937882		TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	GCAGCCGCAACT	GCAGCCGCAACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr11:68181463_68181474delGCAGCCGCAACT	ENST00000294304.7	+	12	2916_2927	c.2810_2821delGCAGCCGCAACT	c.(2809-2823)agcagccgcaactgc>agc	p.SRNC938del		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	938	EGF-like 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGACCCCAGCAGCCGCAACTGCAGCCGTAA	0.627																																																0																																										SO:0001651	inframe_deletion	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2810_2821delGCAGCCGCAACT	11.37:g.68181463_68181474delGCAGCCGCAACT	ENSP00000294304:p.Ser938_Cys941del		Q96TD6|Q9UES7|Q9UP66	In_Frame_Del	DEL	ENST00000294304.7	37	CCDS8181.1																																																																																				0.627	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		-	68181474	GCAGCCGCAACT	-	68181463	7	5	432	1	0	1	0	1	0	0	0	0	8962	971	34	0	2856	0	LRP5	11	68181463	In_Frame_Del	DEL	GCAGCCGCAACT	TCGA-BP-5183-01A-01D-1429-08		68181463	66825053	30	23708											
NEK3	4752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	52709999	52709999	+	Splice_Site	SNP	C	C	T			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr13:52709999C>T	ENST00000400357.2	-	12	2417	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	NEK3_ENST00000378101.2_Splice_Site_p.G392D|NEK3_ENST00000339406.3_Splice_Site_p.G392D|NEK3_ENST00000452082.2_Splice_Site_p.G396D			P51956	NEK3_HUMAN	NIMA-related kinase 3	392					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.G392D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TACAGAACCACCTAGTTGCAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											107	99	101					13																	52709999		1823	4068	5891	SO:0001630	splice_region_variant	4752			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"serine/threonine-protein kinase NEK3", "phosphorylase B kinase kinase", "glycogen synthase A kinase", "hydroxyalkyl-protein kinase"	604044	"NIMA (never in mitosis gene a)-related kinase 3"			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1124-1G>A	13.37:g.52709999C>T			A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042210	0.35989	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.72167	-0.52;-0.52;-0.63;-0.51;-0.47	5.21	4.37	0.52481	.	0.359222	0.29616	N	0.011644	T	0.72803	0.3506	M	0.67953	2.075	0.38986	D	0.959054	D;P;P	0.58268	0.982;0.879;0.926	P;B;P	0.51701	0.677;0.418;0.622	T	0.71530	-0.4565	10	0.20519	T	0.43	.	10.5981	0.45349	0.0:0.845:0.0:0.155	.	392;396;369	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	D	392;392;375;396;369	ENSP00000339429:G392D;ENSP00000367341:G392D;ENSP00000383210:G375D;ENSP00000404197:G396D;ENSP00000448716:G369D	ENSP00000339429:G392D	G	-	2	0	NEK3	51608000	1.000000	0.71417	0.993000	0.49108	0.154000	0.21943	3.557000	0.53741	1.319000	0.45190	-0.136000	0.14681	GGT		0.353	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3		Missense_Mutation	T	52709999	C	T	52709999	5	4	432	1	0	0	0	0	0	0	1	0	10327	521	18	2	357	2	NEK3	13	52709999	Splice_Site	SNP	C	TCGA-BP-5183-01A-01D-1429-08		52709999	62459879	31	23709											
CLDN10	9071	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	96086287	96086287	+	Frame_Shift_Del	DEL	T	T	-	rs557844998	byFrequency	TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr13:96086287delT	ENST00000376873.3	+	1	430	c.200delT	c.(199-201)atcfs	p.I67fs		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	69					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			CATTTTACTATCTTCAAAGTA	0.488																																																0													87	86	87					13																	96086287		2203	4300	6503	SO:0001589	frameshift_variant	9071			U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"Claudins"	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000376873.3:c.200delT	13.37:g.96086287delT	ENSP00000366069:p.Ile67fs		Q6IBF9|Q96N78	Frame_Shift_Del	DEL	ENST00000376873.3	37	CCDS9475.1																																																																																				0.488	CLDN10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045483.3	NM_006984		-	96086287	T	-	96086287	7	5	432	1	0	1	0	1	0	0	0	0	3474	1435	50	0	202	0	CLDN10	13	96086287	Frame_Shift_Del	DEL	T	TCGA-BP-5183-01A-01D-1429-08	43376288	96086287	19083591	32	23710											
UACA	55075	hgsc.bcm.edu;ucsc.edu	37	15	70961379	70961380	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr15:70961379_70961380insTA	ENST00000322954.6	-	16	1828_1829	c.1643_1644insTA	c.(1642-1644)gacfs	p.D548fs	UACA_ENST00000379983.2_Frame_Shift_Ins_p.D535fs|UACA_ENST00000560441.1_Frame_Shift_Ins_p.D533fs|UACA_ENST00000539319.1_Frame_Shift_Ins_p.D439fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	548					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTACTTTCAAGTCTTTCAACTG	0.391																																																0																																										SO:0001589	frameshift_variant	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1643_1644insTA	15.37:g.70961379_70961380insTA	ENSP00000314556:p.Asp548fs		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Frame_Shift_Ins	INS	ENST00000322954.6	37	CCDS10235.1																																																																																				0.391	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			TA	70961380	-	TA	70961379	7	5	432	1	0	1	1	0	0	0	0	0	16829	1020	36	0	2622	0	UACA	15	70961379	Frame_Shift_Ins	INS	-	TCGA-BP-5183-01A-01D-1429-08		70961379	31570013	33	23711											
GP2	2813	broad.mit.edu;hgsc.bcm.edu	37	16	20331781	20331781	+	Nonsense_Mutation	SNP	G	G	A	rs538424340		TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr16:20331781G>A	ENST00000381362.4	-	6	746	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	GP2_ENST00000302555.5_Nonsense_Mutation_p.Q221*|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Nonsense_Mutation_p.Q77*|GP2_ENST00000341642.5_Nonsense_Mutation_p.Q74*	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	224	EGF-like.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.Q221*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCTGAGGCTGCAAACTGTGG	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21990	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Nonsense(1)	kidney(1)											46	42	43					16																	20331781		2203	4300	6503	SO:0001587	stop_gained	2813			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.670C>T	16.37:g.20331781G>A	ENSP00000370767:p.Gln224*		A6NFM9|A6NJA8|Q13338|Q9UIF1	Nonsense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855883	0.32791	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	.	.	.	5.43	0.977	0.19733	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-6.2708	8.5997	0.33736	0.0:0.1419:0.4192:0.4389	.	.	.	.	X	221;224;77;74;202	.	ENSP00000304044:Q221X	Q	-	1	0	GP2	20239282	1.000000	0.71417	0.788000	0.31933	0.155000	0.21991	0.862000	0.27899	-0.032000	0.13758	-0.182000	0.12963	CAG		0.532	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		A	20331781	G	A	20331781	4	1	432	1	0	0	0	0	0	1	0	0	6584	1328	46	2	971	2	GP2	16	20331781	Nonsense_Mutation	SNP	G	TCGA-BP-5183-01A-01D-1429-08		20331781	70022972	34	23712											
RLTPR	146206	hgsc.bcm.edu	37	16	67688684	67688685	+	Frame_Shift_Ins	INS	-	-	G	rs199924683|rs200968420		TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr16:67688684_67688685insG	ENST00000334583.6	+	32	3914_3915	c.3586_3587insG	c.(3586-3588)cggfs	p.R1196fs	RLTPR_ENST00000545661.1_Frame_Shift_Ins_p.R1160fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1196					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCCCTAGCGGCGGCCCCTGGAG	0.634																																																0										24,3654		2,20,1817						4.9	1		dbSNP_120	75	45,7823		0,45,3889	no	frameshift	RLTPR	NM_001013838.1		2,65,5706	A1A1,A1R,RR		0.5719,0.6525,0.5976				69,11477				SO:0001589	frameshift_variant	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3588dupG	16.37:g.67688686_67688686dupG	ENSP00000334958:p.Arg1196fs		B8X2Z3	Frame_Shift_Ins	INS	ENST00000334583.6	37	CCDS45513.1																																																																																				0.634	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		G	67688685	-	G	67688684	7	5	432	1	0	1	1	0	0	0	0	0	13400	759	27	0	3712	0	RLTPR	16	67688684	Frame_Shift_Ins	INS	-	TCGA-BP-5183-01A-01D-1429-08	47356903	67688684	22666069	35	23713											
POLR2A	5430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7416113	7416113	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr17:7416113G>A	ENST00000322644.6	+	28	5026	c.4627G>A	c.(4627-4629)Gca>Aca	p.A1543T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1543					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.A1543T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GACCCCAGGGGCAGCCGGCTT	0.637																																																1	Substitution - Missense(1)	kidney(1)											61	71	68					17																	7416113		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4627G>A	17.37:g.7416113G>A	ENSP00000314949:p.Ala1543Thr		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706483	0.30232	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.70749	-0.51	4.04	4.04	0.47022	.	0.000000	0.64402	D	0.000002	T	0.55321	0.1913	N	0.24115	0.695	0.80722	D	1	P	0.35328	0.495	B	0.28465	0.09	T	0.63193	-0.6692	10	0.56958	D	0.05	-8.6992	15.5284	0.75932	0.0:0.0:1.0:0.0	.	1543	P24928	RPB1_HUMAN	T	1499;442;1543	ENSP00000314949:A1543T	ENSP00000314949:A1543T	A	+	1	0	SLC35G6	7356837	1.000000	0.71417	0.945000	0.38365	0.345000	0.29048	8.299000	0.89946	2.242000	0.73789	0.456000	0.33151	GCA		0.637	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		A	7416113	G	A	7416113	3	1	432	1	0	0	0	0	1	0	0	0	12216	1203	42	2	4737	2	POLR2A	17	7416113	Missense_Mutation	SNP	G	TCGA-BP-5183-01A-01D-1429-08		7416113	73779097	36	23714											
POLR2A	5430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7416181	7416181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr17:7416181G>A	ENST00000322644.6	+	28	5094	c.4695G>A	c.(4693-4695)tgG>tgA	p.W1565*		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1565					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.W1565*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCCCTGCCTGGTCTCCCACAC	0.632																																																1	Substitution - Nonsense(1)	kidney(1)											56	67	63					17																	7416181		2203	4300	6503	SO:0001587	stop_gained	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4695G>A	17.37:g.7416181G>A	ENSP00000314949:p.Trp1565*		A6NN93|B9EH88|Q6NX41	Nonsense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	46	12.554086	0.99677	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	.	.	.	4.04	4.04	0.47022	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8045	15.5284	0.75932	0.0:0.0:1.0:0.0	.	.	.	.	X	1521;464;1565	.	ENSP00000314949:W1565X	W	+	3	0	SLC35G6	7356905	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.116000	0.71571	2.242000	0.73789	0.456000	0.33151	TGG		0.632	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		A	7416181	G	A	7416181	4	1	432	1	0	0	0	0	0	1	0	0	12216	1270	44	2	4805	2	POLR2A	17	7416181	Nonsense_Mutation	SNP	G	TCGA-BP-5183-01A-01D-1429-08	68	7416181	73779029	37	23715											
KRBA2	124751	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8273274	8273274	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr17:8273274T>A	ENST00000331336.2	-	2	662	c.657A>T	c.(655-657)aaA>aaT	p.K219N	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.K137N|RP11-849F2.5_ENST00000580537.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	219					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.K219N(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CATTCCCATATTTTCCTTGCA	0.433																																																1	Substitution - Missense(1)	kidney(1)											129	120	123					17																	8273274		2203	4300	6503	SO:0001583	missense	124751			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.657A>T	17.37:g.8273274T>A	ENSP00000328017:p.Lys219Asn		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.871552	0.51695	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.25414	1.81;1.8	2.64	2.64	0.31445	.	.	.	.	.	T	0.24392	0.0591	L	0.55481	1.735	0.25912	N	0.983221	B	0.22683	0.073	B	0.24269	0.052	T	0.21793	-1.0235	9	0.87932	D	0	.	7.1797	0.25765	0.0:0.0:0.0:1.0	.	219	Q6ZNG9	KRBA2_HUMAN	N	137;219	ENSP00000379565:K137N;ENSP00000328017:K219N	ENSP00000328017:K219N	K	-	3	2	KRBA2	8213999	0.997000	0.39634	0.973000	0.42090	0.987000	0.75469	0.781000	0.26774	1.474000	0.48178	0.528000	0.53228	AAA		0.433	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		A	8273274	T	A	8273274	3	1	432	1	0	0	0	0	1	0	0	0	8442	1490	52	5	825	5	KRBA2	17	8273274	Missense_Mutation	SNP	T	TCGA-BP-5183-01A-01D-1429-08	857093	8273274	72921936	38	23716											
STX8	9482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	9153958	9153958	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr17:9153958C>T	ENST00000306357.4	-	8	1075	c.648G>A	c.(646-648)atG>atA	p.M216I	STX8_ENST00000574431.1_Missense_Mutation_p.M105I	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	216					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.M216I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						TCACCATGATCATCCCTGGAA	0.458																																																1	Substitution - Missense(1)	kidney(1)											129	115	120					17																	9153958		2202	4299	6501	SO:0001583	missense	9482			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.648G>A	17.37:g.9153958C>T	ENSP00000305255:p.Met216Ile		O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476014	0.63737	.	.	ENSG00000170310	ENST00000306357	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.74881	2.28	0.80722	D	1	P	0.39116	0.66	B	0.35550	0.205	T	0.57562	-0.7790	9	0.25106	T	0.35	-23.8486	15.476	0.75481	0.0:1.0:0.0:0.0	.	216	Q9UNK0	STX8_HUMAN	I	216	.	ENSP00000305255:M216I	M	-	3	0	STX8	9094683	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.332000	0.65911	2.565000	0.86533	0.655000	0.94253	ATG		0.458	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853		T	9153958	C	T	9153958	3	4	432	1	0	0	0	0	1	0	0	0	15356	826	29	2	66	2	STX8	17	9153958	Missense_Mutation	SNP	C	TCGA-BP-5183-01A-01D-1429-08	880684	9153958	72041252	39	23717											
UBE2O	63893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74392558	74392558	+	Silent	SNP	G	G	T			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr17:74392558G>T	ENST00000319380.7	-	14	2524	c.2460C>A	c.(2458-2460)atC>atA	p.I820I	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	820					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.I820I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGCTCTCCAGGATCTTGATGG	0.617																																																2	Substitution - coding silent(2)	kidney(2)											119	126	124					17																	74392558		2203	4300	6503	SO:0001819	synonymous_variant	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2460C>A	17.37:g.74392558G>T			A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	CCDS32742.1																																																																																				0.617	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		T	74392558	G	T	74392558	2	4	432	1	0	0	0	0	0	0	0	1	16873	1164	41	4		4	UBE2O	17	74392558	Silent	SNP	G	TCGA-BP-5183-01A-01D-1429-08	65238600	74392558	6802652	40	23718											
TMX3	54495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	66348333	66348333	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr18:66348333G>A	ENST00000299608.2	-	14	1236	c.920C>T	c.(919-921)cCa>cTa	p.P307L		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	307					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.P307L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						AACTACAGTTGGGACTGTCAA	0.294																																																1	Substitution - Missense(1)	kidney(1)											95	96	96					18																	66348333		2203	4300	6503	SO:0001583	missense	54495			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.920C>T	18.37:g.66348333G>A	ENSP00000299608:p.Pro307Leu		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220212	0.79464	.	.	ENSG00000166479	ENST00000299608;ENST00000544714	T	0.77750	-1.12	5.81	5.81	0.92471	.	0.049959	0.85682	N	0.000000	D	0.86083	0.5848	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86510	0.1809	10	0.87932	D	0	.	19.0557	0.93064	0.0:0.0:1.0:0.0	.	307	Q96JJ7	TMX3_HUMAN	L	307	ENSP00000299608:P307L	ENSP00000299608:P307L	P	-	2	0	TMX3	64499313	1.000000	0.71417	0.945000	0.38365	0.922000	0.55478	8.831000	0.92068	2.755000	0.94549	0.655000	0.94253	CCA		0.294	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		A	66348333	G	A	66348333	3	1	432	1	0	0	0	0	1	0	0	0	16273	1348	47	2	456	2	TMX3	18	66348333	Missense_Mutation	SNP	G	TCGA-BP-5183-01A-01D-1429-08		66348333	11728915	41	23719											
ZFR2	23217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3813939	3813939	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr19:3813939C>G	ENST00000262961.4	-	14	2131	c.2121G>C	c.(2119-2121)gaG>gaC	p.E707D		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	707	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E707D(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGACCTCATACTCATCCTCGG	0.537																																																1	Substitution - Missense(1)	kidney(1)											67	72	70					19																	3813939		2079	4205	6284	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2121G>C	19.37:g.3813939C>G	ENSP00000262961:p.Glu707Asp			Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955059	0.53293	.	.	ENSG00000105278	ENST00000262961	T	0.06849	3.25	4.72	3.68	0.42216	DZF (2);	0.276201	0.29722	U	0.011362	T	0.07143	0.0181	N	0.14661	0.345	0.80722	D	1	B	0.34349	0.45	B	0.41723	0.365	T	0.37865	-0.9687	10	0.59425	D	0.04	-18.6146	8.9623	0.35854	0.0:0.8952:0.0:0.1048	.	707	Q9UPR6	ZFR2_HUMAN	D	707	ENSP00000262961:E707D	ENSP00000262961:E707D	E	-	3	2	ZFR2	3764939	1.000000	0.71417	0.715000	0.30552	0.799000	0.45148	2.779000	0.47734	0.967000	0.38186	0.591000	0.81541	GAG		0.537	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		G	3813939	C	G	3813939	3	3	432	1	0	0	0	0	1	0	0	0	17665	564	20	4	722	4	ZFR2	19	3813939	Missense_Mutation	SNP	C	TCGA-BP-5183-01A-01D-1429-08		3813939	55315044	42	23720	177	2									
ZFR2	23217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3813948	3813948	+	Silent	SNP	G	G	T	rs375016343		TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr19:3813948G>T	ENST00000262961.4	-	14	2122	c.2112C>A	c.(2110-2112)acC>acA	p.T704T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	704	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T704T(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTCATCCTCGGTCACCATCT	0.507																																																1	Substitution - coding silent(1)	kidney(1)											58	62	61					19																	3813948		2073	4205	6278	SO:0001819	synonymous_variant	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2112C>A	19.37:g.3813948G>T				Silent	SNP	ENST00000262961.4	37	CCDS45921.1																																																																																				0.507	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		T	3813948	G	T	3813948	2	4	432	1	0	0	0	0	0	0	0	1	17665	1103	39	4		4	ZFR2	19	3813948	Silent	SNP	G	TCGA-BP-5183-01A-01D-1429-08	9	3813948	55315035	43	23721	177	2									
ZNF266	10781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9525150	9525150	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr19:9525150delT	ENST00000592904.1	-	5	2527	c.451delA	c.(451-453)acafs	p.T151fs	ZNF266_ENST00000588933.1_Frame_Shift_Del_p.T151fs|ZNF266_ENST00000361151.1_Frame_Shift_Del_p.T151fs|ZNF266_ENST00000590306.1_Frame_Shift_Del_p.T151fs|ZNF266_ENST00000361451.2_Frame_Shift_Del_p.T151fs|ZNF266_ENST00000592292.1_Frame_Shift_Del_p.T151fs|ZNF266_ENST00000588221.1_Frame_Shift_Del_p.T151fs			Q14584	ZN266_HUMAN	zinc finger protein 266	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTCTCTCCTGTGCACGTTCTC	0.438																																																0													149	133	139					19																	9525150		2203	4300	6503	SO:0001589	frameshift_variant	10781			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"Zinc fingers, C2H2-type"	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.451delA	19.37:g.9525150delT	ENSP00000466714:p.Thr151fs		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Frame_Shift_Del	DEL	ENST00000592904.1	37	CCDS12213.1																																																																																				0.438	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			-	9525150	T	-	9525150	7	5	432	1	0	1	0	1	0	0	0	0	17810	1696	59	0	1202	0	ZNF266	19	9525150	Frame_Shift_Del	DEL	T	TCGA-BP-5183-01A-01D-1429-08	5711202	9525150	49603833	44	23722											
KEAP1	9817	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10602352	10602352	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr19:10602352A>G	ENST00000171111.5	-	3	1773	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T	KEAP1_ENST00000393623.2_Missense_Mutation_p.M409T|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	409					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.M409T(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGGCACGCTCATGGGGGCGCA	0.662																																																1	Substitution - Missense(1)	kidney(1)											34	29	30					19																	10602352		2202	4300	6502	SO:0001583	missense	9817			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1226T>C	19.37:g.10602352A>G	ENSP00000171111:p.Met409Thr		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.478332	0.44044	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.83992	-1.79;-1.79	5.77	4.76	0.60689	Kelch-type beta propeller (1);	0.038111	0.85682	D	0.000000	D	0.91280	0.7251	M	0.92122	3.275	0.58432	D	0.999998	P	0.44627	0.839	P	0.60789	0.879	D	0.89986	0.4104	10	0.33940	T	0.23	.	9.8842	0.41251	0.9196:0.0:0.0804:0.0	.	409	Q14145	KEAP1_HUMAN	T	409	ENSP00000171111:M409T;ENSP00000377245:M409T	ENSP00000171111:M409T	M	-	2	0	KEAP1	10463352	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.312000	0.78968	1.032000	0.39892	0.533000	0.62120	ATG		0.662	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		G	10602352	A	G	10602352	3	3	432	1	0	0	0	0	1	0	0	0	8143	217	8	3	664	3	KEAP1	19	10602352	Missense_Mutation	SNP	A	TCGA-BP-5183-01A-01D-1429-08	1077202	10602352	48526631	45	23723											
ZNF257	113835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	22270900	22270900	+	Silent	SNP	C	C	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr19:22270900C>A	ENST00000594947.1	+	4	492	c.348C>A	c.(346-348)ggC>ggA	p.G116G	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G116G(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGAAAGGGCTGTAAAAGTG	0.348																																																1	Substitution - coding silent(1)	kidney(1)											75	82	79					19																	22270900		2172	4279	6451	SO:0001819	synonymous_variant	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.348C>A	19.37:g.22270900C>A			B3KPS4|E9PG34|Q8NE34	Silent	SNP	ENST00000594947.1	37	CCDS46030.1																																																																																				0.348	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			A	22270900	C	A	22270900	2	1	432	1	0	0	0	0	0	0	0	1	17805	784	28	4		4	ZNF257	19	22270900	Silent	SNP	C	TCGA-BP-5183-01A-01D-1429-08	11668548	22270900	36858083	46	23724											
ZNF568	374900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37428114	37428114	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr19:37428114G>A	ENST00000333987.7	+	6	834	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ZNF568_ENST00000427117.1_Missense_Mutation_p.E110K|ZNF568_ENST00000455427.2_Missense_Mutation_p.E46K|ZNF568_ENST00000415168.1_Missense_Mutation_p.E46K	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	110	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E110K(1)|p.E46K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGGTGATGGAGGAAGAAAT	0.443																																																2	Substitution - Missense(2)	kidney(2)											101	105	104					19																	37428114		2106	4258	6364	SO:0001583	missense	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.328G>A	19.37:g.37428114G>A	ENSP00000334685:p.Glu110Lys		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155996	0.78114	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000415168;ENST00000444991;ENST00000455427	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.2	4.11	0.48088	Krueppel-associated box (1);	0.000000	0.37219	N	0.002183	T	0.59459	0.2195	L	0.41632	1.29	0.80722	D	1	D;D;D;P	0.71674	0.978;0.978;0.998;0.603	P;P;D;B	0.75484	0.714;0.714;0.986;0.232	T	0.50466	-0.8825	10	0.23302	T	0.38	.	11.7649	0.51924	0.0:0.1763:0.8237:0.0	.	46;46;110;110	E7ER33;B4DS92;C9JZ58;Q3ZCX4	.;.;.;ZN568_HUMAN	K	110;110;46;110;46	ENSP00000407012:E110K;ENSP00000334685:E110K;ENSP00000394514:E46K;ENSP00000389794:E110K;ENSP00000413396:E46K	ENSP00000334685:E110K	E	+	1	0	ZNF568	42119954	0.736000	0.28164	0.957000	0.39632	0.998000	0.95712	0.762000	0.26503	2.689000	0.91719	0.655000	0.94253	GAG		0.443	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		A	37428114	G	A	37428114	3	1	432	1	0	0	0	0	1	0	0	0	18004	1175	41	2	342	2	ZNF568	19	37428114	Missense_Mutation	SNP	G	TCGA-BP-5183-01A-01D-1429-08	15157214	37428114	21700869	47	23725											
PSG1	5669	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	43376181	43376181	+	Silent	SNP	G	G	A			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr19:43376181G>A	ENST00000436291.2	-	3	563	c.447C>T	c.(445-447)ccC>ccT	p.P149P	PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Silent_p.P149P|PSG1_ENST00000312439.6_Silent_p.P149P|PSG1_ENST00000244296.2_Silent_p.P149P|PSG1_ENST00000403380.3_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	149	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P149P(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGAGATGGAGGGCTTAGGAG	0.512																																																2	Substitution - coding silent(2)	kidney(2)											152	144	147					19																	43376181		2201	4299	6500	SO:0001819	synonymous_variant	5669				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.447C>T	19.37:g.43376181G>A			O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	CCDS54275.1																																																																																				0.512	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			A	43376181	G	A	43376181	2	1	432	1	0	0	0	0	0	0	0	1	12658	987	35	2		2	PSG1	19	43376181	Silent	SNP	G	TCGA-BP-5183-01A-01D-1429-08	5948067	43376181	15752802	48	23726											
SLC6A16	28968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49797187	49797187	+	Silent	SNP	C	C	T	rs368968956		TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr19:49797187C>T	ENST00000335875.4	-	9	1756	c.1515G>A	c.(1513-1515)ttG>ttA	p.L505L	SLC6A16_ENST00000454748.3_Silent_p.L505L	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	505					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.L505L(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CCATGGCCAGCAACATCAGGA	0.498																																																1	Substitution - coding silent(1)	kidney(1)											161	165	163					19																	49797187		2027	4188	6215	SO:0001819	synonymous_variant	28968			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1515G>A	19.37:g.49797187C>T			Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	CCDS42590.1																																																																																				0.498	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		T	49797187	C	T	49797187	2	4	432	1	0	0	0	0	0	0	0	1	14685	709	25	2		2	SLC6A16	19	49797187	Silent	SNP	C	TCGA-BP-5183-01A-01D-1429-08	6421006	49797187	9331796	49	23727											
NCOA3	8202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	46268421	46268421	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr20:46268421C>G	ENST00000371998.3	+	15	2999	c.2808C>G	c.(2806-2808)aaC>aaG	p.N936K	NCOA3_ENST00000372004.3_Missense_Mutation_p.N936K|NCOA3_ENST00000371997.3_Missense_Mutation_p.N931K|NCOA3_ENST00000341724.6_Missense_Mutation_p.N866K			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	936					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.N936K(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGAATTCAAACTCCATGGGAA	0.493																																																1	Substitution - Missense(1)	kidney(1)											124	132	129					20																	46268421		2203	4300	6503	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2808C>G	20.37:g.46268421C>G	ENSP00000361066:p.Asn936Lys		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	8.587	0.883618	0.17467	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.01933	4.56;4.73;4.73;4.55	5.89	-1.33	0.09172	.	1.049970	0.07366	N	0.884904	T	0.02455	0.0075	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.25486	0.022;0.127;0.004;0.046;0.003;0.002	B;B;B;B;B;B	0.27076	0.045;0.076;0.011;0.045;0.026;0.011	T	0.47058	-0.9146	10	0.52906	T	0.07	-3.8871	6.5507	0.22431	0.1483:0.1912:0.0:0.6605	.	936;931;940;936;936;936	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	K	936;866;936;936;931	ENSP00000342123:N866K;ENSP00000361073:N936K;ENSP00000361066:N936K;ENSP00000361065:N931K	ENSP00000345671:N936K	N	+	3	2	NCOA3	45701828	0.000000	0.05858	0.001000	0.08648	0.894000	0.52154	-0.159000	0.10056	-0.089000	0.12484	0.557000	0.71058	AAC		0.493	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		G	46268421	C	G	46268421	3	3	432	1	0	0	0	0	1	0	0	0	10232	564	20	4	2888	4	NCOA3	20	46268421	Missense_Mutation	SNP	C	TCGA-BP-5183-01A-01D-1429-08		46268421	16757099	50	23728											
ITSN1	6453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	35254745	35254745	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr21:35254745delA	ENST00000381318.3	+	35	4828	c.4540delA	c.(4540-4542)aaafs	p.K1514fs	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.K1453fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.K1509fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.K1514fs|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1514	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCTGCAGTATAAAATGTATAA	0.433																																																0													47	49	48					21																	35254745		2203	4300	6503	SO:0001589	frameshift_variant	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4540delA	21.37:g.35254745delA	ENSP00000370719:p.Lys1514fs		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Del	DEL	ENST00000381318.3	37	CCDS33545.1																																																																																				0.433	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		-	35254745	A	-	35254745	7	5	432	1	0	1	0	1	0	0	0	0	7928	363	13	0	4680	0	ITSN1	21	35254745	Frame_Shift_Del	DEL	A	TCGA-BP-5183-01A-01D-1429-08		35254745	12875150	51	23729											
DSCR6	53820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	38385914	38385914	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr21:38385914G>C	ENST00000329553.2	+	3	445	c.235G>C	c.(235-237)Gta>Cta	p.V79L	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	79	Ripply homology domain.				heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V79L(1)									TCAGCATCCTGTAAGGTAATA	0.388																																																1	Substitution - Missense(1)	kidney(1)											108	89	95					21																	38385914		2203	4300	6503	SO:0001583	missense	53820			AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.235G>C	21.37:g.38385914G>C	ENSP00000331734:p.Val79Leu			Missense_Mutation	SNP	ENST00000329553.2	37	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960838	0.74016	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.49	4.49	0.54785	.	0.184400	0.33005	N	0.005385	T	0.78666	0.4319	M	0.80332	2.49	0.45295	D	0.998292	D	0.76494	0.999	D	0.80764	0.994	T	0.81583	-0.0866	9	0.72032	D	0.01	-6.5541	13.4335	0.61071	0.0:0.0:1.0:0.0	.	79	P57055	DSCR6_HUMAN	L	79	.	ENSP00000331734:V79L	V	+	1	0	DSCR6	37307784	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.150000	0.50662	2.433000	0.82419	0.462000	0.41574	GTA		0.388	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			C	38385914	G	C	38385914	3	2	432	1	0	0	0	0	1	0	0	0	4775	1377	48	4	245	4	DSCR6	21	38385914	Missense_Mutation	SNP	G	TCGA-BP-5183-01A-01D-1429-08	3131169	38385914	9743981	52	23730											
CECR1	51816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	17690279	17690279	+	Nonsense_Mutation	SNP	G	G	A	rs370709874		TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr22:17690279G>A	ENST00000399839.1	-	2	559	c.289C>T	c.(289-291)Caa>Taa	p.Q97*	CECR1_ENST00000399837.2_Nonsense_Mutation_p.Q97*|CECR1_ENST00000449907.2_Nonsense_Mutation_p.Q55*|CECR1_ENST00000262607.3_Nonsense_Mutation_p.Q97*	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	97	Dimerization.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)	p.Q97*(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TTAAACACTTGACTTCTCTCA	0.483																																																1	Substitution - Nonsense(1)	kidney(1)											69	65	67					22																	17690279		2203	4300	6503	SO:0001587	stop_gained	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.289C>T	22.37:g.17690279G>A	ENSP00000382733:p.Gln97*		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Nonsense_Mutation	SNP	ENST00000399839.1	37	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805377	0.90623	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837;ENST00000543038;ENST00000441548	.	.	.	3.97	-2.36	0.06663	.	0.837550	0.10603	N	0.655387	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9986	0.41916	0.0:0.5231:0.3131:0.1637	.	.	.	.	X	97;97;55;97;97;97	.	ENSP00000262607:Q97X	Q	-	1	0	CECR1	16070279	0.000000	0.05858	0.002000	0.10522	0.463000	0.32649	-0.227000	0.09126	-0.108000	0.12066	0.561000	0.74099	CAA		0.483	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			A	17690279	G	A	17690279	4	1	432	1	0	0	0	0	0	1	0	0	3207	1299	45	2	1316	2	CECR1	22	17690279	Nonsense_Mutation	SNP	G	TCGA-BP-5183-01A-01D-1429-08		17690279	33614287	53	23731											
SEPT3	55964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42383654	42383654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-5183-01A-01D-1429-08	TCGA-BP-5183-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4c37c3-95f2-4612-b6a8-9d6d1dfb5fd4	3ac4a265-3777-4983-a7ce-c4a1674df004	g.chr22:42383654G>T	ENST00000396426.3	+	5	697	c.442G>T	c.(442-444)Gag>Tag	p.E148*	SEPT3_ENST00000406029.1_Nonsense_Mutation_p.E84*|SEPT3_ENST00000328414.8_Missense_Mutation_p.M77I|SEPT3_ENST00000396425.3_Nonsense_Mutation_p.E148*|SEPT3_ENST00000291236.11_Nonsense_Mutation_p.E84*	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	148	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.E148*(2)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GTACATCAATGAGCAGTACGA	0.507																																																2	Substitution - Nonsense(2)	kidney(2)											185	136	152					22																	42383654		2203	4300	6503	SO:0001587	stop_gained	55964			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"Septins"	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.442G>T	22.37:g.42383654G>T	ENSP00000379704:p.Glu148*		B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Nonsense_Mutation	SNP	ENST00000396426.3	37	CCDS14026.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.404019|5.404019	0.96051|0.96051	.|.	.|.	ENSG00000100167|ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236|ENST00000328414	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.62780	.|0.2456	.|.	.|.	.|.	0.27727|0.27727	N|N	0.944936|0.944936	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59936	.|-0.7360	.|5	0.46703|0.87932	T|D	0.11|0	.|.	19.1075|19.1075	0.93301|0.93301	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	135;148;84;148;84|77	.|.	ENSP00000291236:E84X|ENSP00000332866:M77I	E|M	+|+	1|3	0|0	SEPT3|SEPT3	40713600|40713600	1.000000|1.000000	0.71417|0.71417	0.825000|0.825000	0.32803|0.32803	0.989000|0.989000	0.77384|0.77384	9.787000|9.787000	0.99055|0.99055	2.590000|2.590000	0.87494|0.87494	0.563000|0.563000	0.77884|0.77884	GAG|ATG		0.507	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		T	42383654	G	T	42383654	4	4	432	1	0	0	0	0	0	1	0	0	14071	1291	45	4	460	4	SEPT3	22	42383654	Nonsense_Mutation	SNP	G	TCGA-BP-5183-01A-01D-1429-08	24693375	42383654	8920912	54	23732											
ELOVL1	64834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43829743	43829743	+	Silent	SNP	C	C	T			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr1:43829743C>T	ENST00000372458.3	-	8	801	c.684G>A	c.(682-684)caG>caA	p.Q228Q	ELOVL1_ENST00000413844.2_Silent_p.Q201Q|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	228					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)	p.Q228Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGACTGGGTACTGGTAGTTAC	0.473																																																1	Substitution - coding silent(1)	kidney(1)											118	102	108					1																	43829743		2203	4300	6503	SO:0001819	synonymous_variant	64834			AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.684G>A	1.37:g.43829743C>T			B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Silent	SNP	ENST00000372458.3	37	CCDS485.1																																																																																				0.473	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		T	43829743	C	T	43829743	2	4	433	1	0	0	0	0	0	0	0	1	5075	564	20	2		2	ELOVL1	1	43829743	Silent	SNP	C	TCGA-BP-5184-01A-01D-1429-08		43829743	205420878	1	23733											
CACHD1	57685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	65117974	65117974	+	Silent	SNP	T	T	C			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr1:65117974T>C	ENST00000371073.2	+	10	1521	c.1521T>C	c.(1519-1521)acT>acC	p.T507T	CACHD1_ENST00000290039.5_Silent_p.T456T|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	507	Cache 1.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.T456T(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTTCCTATACTTTTCTCATAG	0.343																																																1	Substitution - coding silent(1)	kidney(1)											174	148	157					1																	65117974		2203	4300	6503	SO:0001819	synonymous_variant	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1521T>C	1.37:g.65117974T>C			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37																																																																																					0.343	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		C	65117974	T	C	65117974	2	2	433	1	0	0	0	0	0	0	0	1	2539	1596	56	3		3	CACHD1	1	65117974	Silent	SNP	T	TCGA-BP-5184-01A-01D-1429-08	21288231	65117974	184132647	2	23734											
PMVK	10654	broad.mit.edu	37	1	154904889	154904889	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr1:154904889A>T	ENST00000368467.3	-	2	403	c.98T>A	c.(97-99)cTt>cAt	p.L33H		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	33					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)	p.L33H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATCAGCTCCAAGTCTGCAGGA	0.542																																																1	Substitution - Missense(1)	kidney(1)											98	88	92					1																	154904889		2203	4300	6503	SO:0001583	missense	10654			L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.98T>A	1.37:g.154904889A>T	ENSP00000357452:p.Leu33His		Q5TZW9	Missense_Mutation	SNP	ENST00000368467.3	37	CCDS1073.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284149	0.80803	.	.	ENSG00000163344	ENST00000368467	T	0.60548	0.18	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000002	T	0.69133	0.3077	M	0.83483	2.645	0.38190	D	0.939885	D	0.89917	1.0	D	0.75020	0.985	T	0.75241	-0.3387	10	0.72032	D	0.01	-16.4749	10.5455	0.45058	1.0:0.0:0.0:0.0	.	33	Q15126	PMVK_HUMAN	H	33	ENSP00000357452:L33H	ENSP00000357452:L33H	L	-	2	0	PMVK	153171513	0.998000	0.40836	0.082000	0.20525	0.784000	0.44337	5.638000	0.67861	2.053000	0.61076	0.459000	0.35465	CTT		0.542	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		T	154904889	A	T	154904889	3	4	433	1	0	0	0	0	1	0	0	0	12146	72	3	5	496	5	PMVK	1	154904889	Missense_Mutation	SNP	A	TCGA-BP-5184-01A-01D-1429-08	89786915	154904889	94345732	3	23735											
KCNH7	90134	broad.mit.edu;hgsc.bcm.edu	37	2	163253263	163253263	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr2:163253263T>G	ENST00000332142.5	-	11	2699	c.2600A>C	c.(2599-2601)cAt>cCt	p.H867P		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	867					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.H867P(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGCGCTCTCATGCCTTAGGTT	0.338																																					GBM(196;1492 2208 17507 24132 45496)											1	Substitution - Missense(1)	kidney(1)											67	64	65					2																	163253263		2202	4298	6500	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2600A>C	2.37:g.163253263T>G	ENSP00000331727:p.His867Pro		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006737	0.54361	.	.	ENSG00000184611	ENST00000332142	D	0.98567	-5.0	5.43	5.43	0.79202	RmlC-like jelly roll fold (1);	0.048232	0.85682	D	0.000000	D	0.94598	0.8259	N	0.08118	0	0.80722	D	1	B	0.20671	0.047	B	0.26614	0.071	D	0.92052	0.5649	10	0.62326	D	0.03	.	15.481	0.75528	0.0:0.0:0.0:1.0	.	867	Q9NS40	KCNH7_HUMAN	P	867	ENSP00000331727:H867P	ENSP00000331727:H867P	H	-	2	0	KCNH7	162961509	1.000000	0.71417	0.968000	0.41197	0.964000	0.63967	6.276000	0.72601	2.070000	0.61991	0.477000	0.44152	CAT		0.338	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		G	163253263	T	G	163253263	3	3	433	1	0	0	0	0	1	0	0	0	8039	1464	51	5	1014	5	KCNH7	2	163253263	Missense_Mutation	SNP	T	TCGA-BP-5184-01A-01D-1429-08		163253263	79946110	4	23736											
CHRNA1	1134	hgsc.bcm.edu;ucsc.edu	37	2	175614765	175614767	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr2:175614765_175614767delAAC	ENST00000261007.5	-	8	1050_1052	c.984_986delGTT	c.(982-987)gtgttc>gtc	p.F329del	CHRNA1_ENST00000409542.1_In_Frame_Del_p.F222del|CHRNA1_ENST00000409219.1_In_Frame_Del_p.F304del|CHRNA1_ENST00000348749.5_In_Frame_Del_p.F304del|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	329					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GGCAATGACGAACACCATGGTGA	0.532																																																0																																										SO:0001651	inframe_deletion	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.984_986delGTT	2.37:g.175614765_175614767delAAC	ENSP00000261007:p.Phe329del		B4DRV6|D3DPE8	In_Frame_Del	DEL	ENST00000261007.5	37	CCDS33331.1																																																																																				0.532	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			-	175614767	AAC	-	175614765	7	5	433	1	0	1	0	1	0	0	0	0	3383	246	9	0	474	0	CHRNA1	2	175614765	In_Frame_Del	DEL	AAC	TCGA-BP-5184-01A-01D-1429-08	12361502	175614765	67584608	5	23737											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188284	10188287	+	Frame_Shift_Del	DEL	GACG	GACG	-	rs372757722		TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	GACG	GACG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr3:10188284_10188287delGACG	ENST00000256474.2	+	2	1267_1270	c.427_430delGACG	c.(427-432)gacggafs	p.DG143fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	143	Involved in binding to CCT complex.		D -> E (in VHLD; type II). {ECO:0000269|PubMed:8825918}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G144fs*14(5)|p.G144*(3)|p.N141fs*16(2)|p.D143E(2)|p.D143fs*16(2)|p.V142fs*30(1)|p.G144R(1)|p.Q145fs*30(1)|p.G144fs*29(1)|p.D143fs*29(1)|p.N141fs*30(1)|p.S139fs*12(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCTCAATGTTGACGGACAGCCTAT	0.426		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	22	Deletion - Frameshift(15)|Substitution - Missense(3)|Substitution - Nonsense(3)|Insertion - Frameshift(1)	kidney(20)|adrenal_gland(1)|endometrium(1)	GRCh37	CD951875|CM982008	VHL	D|M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.427_430delGACG	3.37:g.10188284_10188287delGACG	ENSP00000256474:p.Asp143fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.426	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188287	GACG	-	10188284	7	5	433	1	0	1	0	1	0	0	0	0	17167	1290	45	0	433	0	VHL	3	10188284	Frame_Shift_Del	DEL	GACG	TCGA-BP-5184-01A-01D-1429-08		10188284	187834146	6	23738											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52613123	52613123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr3:52613123delA	ENST00000296302.7	-	21	3481	c.3480delT	c.(3478-3480)gttfs	p.V1160fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.V1135fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.V1160fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.V1128fs|SMIM4_ENST00000476842.1_3'UTR|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.V1160fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.V1175fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.V1135fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.V1175fs			Q86U86	PB1_HUMAN	polybromo 1	1160	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G1129fs*57(1)|p.G1161fs*57(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CACAGTCGCCAACCTTCAGCC	0.473			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	2	Deletion - Frameshift(2)	kidney(2)											183	152	163					3																	52613123		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3480delT	3.37:g.52613123delA	ENSP00000296302:p.Val1160fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.473	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52613123	A	-	52613123	7	5	433	1	0	1	0	1	0	0	0	0	11493	117	5	0	1460	0	PBRM1	3	52613123	Frame_Shift_Del	DEL	A	TCGA-BP-5184-01A-01D-1429-08	42424839	52613123	145409307	7	23739											
THAP9	79725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83839957	83839957	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr4:83839957T>A	ENST00000302236.5	+	5	2643	c.2592T>A	c.(2590-2592)gaT>gaA	p.D864E	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	864					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.D864E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGAGAACTGATATGAAAACTT	0.313																																																1	Substitution - Missense(1)	kidney(1)											47	51	50					4																	83839957		2201	4297	6498	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.2592T>A	4.37:g.83839957T>A	ENSP00000305533:p.Asp864Glu		B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.158924	0.00028	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.89681	-2.55	4.19	0.247	0.15521	.	0.829398	0.10130	N	0.712161	T	0.69949	0.3168	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57376	-0.7822	10	0.05959	T	0.93	-7.6645	3.4652	0.07548	0.617:0.0:0.2098:0.1732	.	864	Q9H5L6	THAP9_HUMAN	E	864	ENSP00000305533:D864E	ENSP00000305533:D864E	D	+	3	2	THAP9	84058981	0.022000	0.18835	0.002000	0.10522	0.007000	0.05969	1.143000	0.31553	0.052000	0.16007	-1.017000	0.02453	GAT		0.313	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		A	83839957	T	A	83839957	3	1	433	1	0	0	0	0	1	0	0	0	15856	1403	49	5	2610	5	THAP9	4	83839957	Missense_Mutation	SNP	T	TCGA-BP-5184-01A-01D-1429-08		83839957	107314319	8	23740											
HERC5	51191	broad.mit.edu;hgsc.bcm.edu	37	4	89425491	89425491	+	Silent	SNP	C	C	T			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr4:89425491C>T	ENST00000264350.3	+	21	2844	c.2691C>T	c.(2689-2691)atC>atT	p.I897I	HERC5_ENST00000508159.1_Silent_p.I535I	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	897	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.I897I(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAGACATTATCAAATTATTCC	0.328																																					Esophageal Squamous(39;887 1012 34045 50514)											1	Substitution - coding silent(1)	kidney(1)											81	83	82					4																	89425491		2203	4299	6502	SO:0001819	synonymous_variant	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2691C>T	4.37:g.89425491C>T			B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	CCDS3630.1																																																																																				0.328	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		T	89425491	C	T	89425491	2	4	433	1	0	0	0	0	0	0	0	1	7063	816	29	2		2	HERC5	4	89425491	Silent	SNP	C	TCGA-BP-5184-01A-01D-1429-08	5585534	89425491	101728785	9	23741											
NRG2	9542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139232130	139232130	+	Silent	SNP	G	G	A			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr5:139232130G>A	ENST00000361474.1	-	8	1655	c.1431C>T	c.(1429-1431)aaC>aaT	p.N477N	NRG2_ENST00000289409.4_Silent_p.N471N|NRG2_ENST00000545385.1_Silent_p.N479N|NRG2_ENST00000541337.1_Silent_p.N411N|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000340391.3_Silent_p.N274N|NRG2_ENST00000358522.3_Silent_p.N479N|NRG2_ENST00000289422.7_Silent_p.N485N|CTB-35F21.4_ENST00000504413.1_RNA	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	477					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.N477N(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTGGCACGTTCTTGGAAA	0.527																																																1	Substitution - coding silent(1)	kidney(1)											174	156	162					5																	139232130		2203	4300	6503	SO:0001819	synonymous_variant	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1431C>T	5.37:g.139232130G>A				Silent	SNP	ENST00000361474.1	37	CCDS4217.1																																																																																				0.527	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		A	139232130	G	A	139232130	2	1	433	1	0	0	0	0	0	0	0	1	10650	1136	40	1		1	NRG2	5	139232130	Silent	SNP	G	TCGA-BP-5184-01A-01D-1429-08		139232130	41683130	10	23742											
UTRN	7402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	145103091	145103091	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr6:145103091T>A	ENST00000367545.3	+	60	8666	c.8666T>A	c.(8665-8667)aTt>aAt	p.I2889N	UTRN_ENST00000367526.4_Missense_Mutation_p.I444N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2889	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.I2889N(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACAAATGAAATTTTCAAACAG	0.368																																																1	Substitution - Missense(1)	kidney(1)											99	95	96					6																	145103091		2203	4300	6503	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8666T>A	6.37:g.145103091T>A	ENSP00000356515:p.Ile2889Asn		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.032629	0.54790	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.66460	-0.21;-0.21	5.49	5.49	0.81192	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.289894	0.24409	N	0.038763	T	0.48677	0.1513	L	0.49126	1.545	0.29572	N	0.849855	B	0.13145	0.007	B	0.18871	0.023	T	0.52975	-0.8503	10	0.66056	D	0.02	.	15.5871	0.76491	0.0:0.0:0.0:1.0	.	2889	P46939	UTRO_HUMAN	N	2889;444	ENSP00000356515:I2889N;ENSP00000356496:I444N	ENSP00000356496:I444N	I	+	2	0	UTRN	145144784	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.137000	0.58010	2.087000	0.62958	0.455000	0.32223	ATT		0.368	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			A	145103091	T	A	145103091	3	1	433	1	0	0	0	0	1	0	0	0	17108	1493	52	5	8904	5	UTRN	6	145103091	Missense_Mutation	SNP	T	TCGA-BP-5184-01A-01D-1429-08		145103091	26011976	11	23743											
UNC93A	54346	broad.mit.edu;ucsc.edu	37	6	167721380	167721380	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr6:167721380T>C	ENST00000230256.3	+	7	1265	c.1090T>C	c.(1090-1092)Tgg>Cgg	p.W364R	UNC93A_ENST00000366829.2_Missense_Mutation_p.W322R	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	364						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W364R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGATGCCGTCTGGCAGACACA	0.607																																																1	Substitution - Missense(1)	kidney(1)											96	72	80					6																	167721380		2203	4300	6503	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1090T>C	6.37:g.167721380T>C	ENSP00000230256:p.Trp364Arg		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076773	0.36662	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.18016	2.24;2.24	4.56	3.37	0.38596	Major facilitator superfamily domain, general substrate transporter (1);	0.069159	0.64402	D	0.000006	T	0.34803	0.0910	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.73380	0.98;0.966	T	0.33574	-0.9863	10	0.66056	D	0.02	-11.5938	9.1931	0.37211	0.0:0.0904:0.0:0.9096	.	322;364	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	R	364;322	ENSP00000230256:W364R;ENSP00000355794:W322R	ENSP00000230256:W364R	W	+	1	0	UNC93A	167641370	1.000000	0.71417	0.817000	0.32601	0.040000	0.13550	5.012000	0.64017	1.692000	0.51112	0.460000	0.39030	TGG		0.607	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		C	167721380	T	C	167721380	3	2	433	1	0	0	0	0	1	0	0	0	17001	1580	55	3	1116	3	UNC93A	6	167721380	Missense_Mutation	SNP	T	TCGA-BP-5184-01A-01D-1429-08	22618289	167721380	3393687	12	23744											
ABCB1	5243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	87183102	87183102	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr7:87183102T>C	ENST00000265724.3	-	10	1391	c.974A>G	c.(973-975)gAa>gGa	p.E325G	ABCB1_ENST00000543898.1_Missense_Mutation_p.E261G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	325	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E325G(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AATAGAATATTCCCCTGAGAG	0.398																																																1	Substitution - Missense(1)	kidney(1)											117	110	112					7																	87183102		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.974A>G	7.37:g.87183102T>C	ENSP00000265724:p.Glu325Gly		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.769017	0.31320	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	T;T	0.79247	-1.25;-1.25	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.169280	0.52532	D	0.000063	T	0.68220	0.2977	L	0.31371	0.925	0.44966	D	0.997988	B;B	0.14805	0.006;0.011	B;B	0.26094	0.016;0.066	T	0.64774	-0.6328	10	0.42905	T	0.14	-17.4675	11.5283	0.50593	0.0:0.0:0.1496:0.8504	.	261;325	B5AK60;P08183	.;MDR1_HUMAN	G	106;325;261	ENSP00000265724:E325G;ENSP00000444095:E261G	ENSP00000265724:E325G	E	-	2	0	ABCB1	87021038	0.954000	0.32549	0.782000	0.31804	0.267000	0.26476	4.974000	0.63771	2.129000	0.65627	0.528000	0.53228	GAA		0.398	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		C	87183102	T	C	87183102	3	2	433	1	0	0	0	0	1	0	0	0	40	1783	62	3	2948	3	ABCB1	7	87183102	Missense_Mutation	SNP	T	TCGA-BP-5184-01A-01D-1429-08		87183102	71955561	13	23745											
CSPP1	79848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	68007701	68007701	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr8:68007701A>T	ENST00000262210.5	+	6	715	c.684A>T	c.(682-684)caA>caT	p.Q228H	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	263					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.Q228H(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATACCGACAACTAGATGATG	0.378																																																1	Substitution - Missense(1)	kidney(1)											103	95	98					8																	68007701		1828	4086	5914	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.684A>T	8.37:g.68007701A>T	ENSP00000262210:p.Gln228His		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504393	0.64410	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.76839	-1.05	5.95	3.61	0.41365	.	0.355647	0.14779	U	0.298919	T	0.75510	0.3859	L	0.46157	1.445	0.80722	D	1	P;P;P	0.42993	0.797;0.755;0.755	P;P;P	0.47470	0.548;0.465;0.465	T	0.71083	-0.4695	10	0.56958	D	0.05	-7.9518	8.1105	0.30911	0.6864:0.0:0.3136:0.0	.	228;263;263	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	H	228;263	ENSP00000262210:Q228H	ENSP00000262210:Q228H	Q	+	3	2	CSPP1	68170255	0.990000	0.36364	0.992000	0.48379	0.973000	0.67179	2.142000	0.42177	0.524000	0.28502	0.528000	0.53228	CAA		0.378	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		T	68007701	A	T	68007701	3	4	433	1	0	0	0	0	1	0	0	0	3964	40	2	5	819	5	CSPP1	8	68007701	Missense_Mutation	SNP	A	TCGA-BP-5184-01A-01D-1429-08		68007701	78356321	14	23746											
EBAG9	9166	broad.mit.edu;ucsc.edu	37	8	110567065	110567065	+	Silent	SNP	G	G	A			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr8:110567065G>A	ENST00000337573.5	+	4	570	c.270G>A	c.(268-270)ctG>ctA	p.L90L	EBAG9_ENST00000395785.2_Silent_p.L90L|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Silent_p.L90L	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	90					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)	p.L90L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TGGAACAACTGGAACCTGACT	0.383																																																1	Substitution - coding silent(1)	kidney(1)											142	128	133					8																	110567065		2203	4300	6503	SO:0001819	synonymous_variant	9166			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.270G>A	8.37:g.110567065G>A			A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Silent	SNP	ENST00000337573.5	37	CCDS6313.1																																																																																				0.383	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		A	110567065	G	A	110567065	2	1	433	1	0	0	0	0	0	0	0	1	4881	1335	47	2		2	EBAG9	8	110567065	Silent	SNP	G	TCGA-BP-5184-01A-01D-1429-08	42559364	110567065	35796957	15	23747											
TSNARE1	203062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	143412303	143412303	+	Silent	SNP	G	G	A			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr8:143412303G>A	ENST00000307180.3	-	6	969	c.852C>T	c.(850-852)tcC>tcT	p.S284S	TSNARE1_ENST00000520166.1_Silent_p.S284S|TSNARE1_ENST00000519651.1_Silent_p.S65S|TSNARE1_ENST00000524325.1_Silent_p.S284S	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	284					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.S284S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGTCCCTAAGGACTGAAGGC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											151	116	128					8																	143412303		2203	4300	6503	SO:0001819	synonymous_variant	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.852C>T	8.37:g.143412303G>A			B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	CCDS6384.1																																																																																				0.627	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		A	143412303	G	A	143412303	2	1	433	1	0	0	0	0	0	0	0	1	16635	987	35	2		2	TSNARE1	8	143412303	Silent	SNP	G	TCGA-BP-5184-01A-01D-1429-08	32845238	143412303	2951719	16	23748											
HBB	3043	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5247899	5247899	+	Missense_Mutation	SNP	C	C	A	rs33916541		TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr11:5247899C>A	ENST00000335295.4	-	2	272	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	75			G -> R (in Aalborg; unstable).|G -> V (in Bushwick; unstable).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.G75C(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	TGAGCCAGGCCATCACTAAAG	0.537									Sickle Cell Trait																																							1	Substitution - Missense(1)	kidney(1)											160	136	144					11																	5247899		2201	4298	6499	SO:0001583	missense	3043	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.223G>T	11.37:g.5247899C>A	ENSP00000333994:p.Gly75Cys		A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	c	16.13	3.036793	0.54896	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.92911	-3.13;-3.13	5.1	5.1	0.69264	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.94324	0.8176	L	0.45352	1.415	0.49299	D	0.999776	D	0.76494	0.999	D	0.81914	0.995	D	0.94657	0.7844	9	0.87932	D	0	-13.8604	17.6123	0.88058	0.0:1.0:0.0:0.0	.	75	P68871	HBB_HUMAN	C	75	ENSP00000333994:G75C;ENSP00000369671:G75C	ENSP00000333994:G75C	G	-	1	0	HBB	5204475	1.000000	0.71417	0.199000	0.23439	0.047000	0.14425	6.988000	0.76212	2.812000	0.96745	0.555000	0.69702	GGC		0.537	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		A	5247899	C	A	5247899	3	1	433	1	0	0	0	0	1	0	0	0	6980	594	21	4	228	4	HBB	11	5247899	Missense_Mutation	SNP	C	TCGA-BP-5184-01A-01D-1429-08		5247899	129758617	17	23749											
C11orf2	738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64875906	64875906	+	Silent	SNP	C	C	A			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr11:64875906C>A	ENST00000279281.3	+	5	1055	c.963C>A	c.(961-963)gcC>gcA	p.A321A	AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	321					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A321A(1)									TGGCGGCGGCCTACCAGGAGC	0.706																																																1	Substitution - coding silent(1)	kidney(1)											16	21	20					11																	64875906		2193	4290	6483	SO:0001819	synonymous_variant	0			AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.963C>A	11.37:g.64875906C>A			Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	ENST00000279281.3	37	CCDS8093.1																																																																																				0.706	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		A	64875906	C	A	64875906	2	1	433	1	0	0	0	0	0	0	0	1	1635	668	24	4		4	C11orf2	11	64875906	Silent	SNP	C	TCGA-BP-5184-01A-01D-1429-08	59628007	64875906	70130610	18	23750											
PCF11	51585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	82877723	82877723	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr11:82877723A>G	ENST00000298281.4	+	5	2236	c.1784A>G	c.(1783-1785)aAa>aGa	p.K595R		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	595					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.K595R(1)|p.K694R(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAGTCTGCCAAAAGATGGAAA	0.353																																																2	Substitution - Missense(2)	kidney(2)											73	74	74					11																	82877723		1755	3855	5610	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1784A>G	11.37:g.82877723A>G	ENSP00000298281:p.Lys595Arg		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254154	0.80135	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.52526	1.63;0.69;0.66	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000005	T	0.58293	0.2112	L	0.32530	0.975	0.45087	D	0.998109	D;D	0.69078	0.997;0.996	D;P	0.75020	0.985;0.874	T	0.54801	-0.8239	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	595;595	E9PQ01;O94913	.;PCF11_HUMAN	R	595	ENSP00000298281:K595R;ENSP00000434540:K595R;ENSP00000431567:K595R	.	K	+	2	0	PCF11	82555371	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.431000	0.90285	2.326000	0.78906	0.533000	0.62120	AAA		0.353	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82877723	A	G	82877723	3	3	433	1	0	0	0	0	1	0	0	0	11575	14	1	3	1802	3	PCF11	11	82877723	Missense_Mutation	SNP	A	TCGA-BP-5184-01A-01D-1429-08	18001817	82877723	52128793	19	23751											
GRIA4	2893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	105842733	105842733	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr11:105842733G>A	ENST00000530497.1	+	14	2387	c.2387G>A	c.(2386-2388)gGa>gAa	p.G796E	GRIA4_ENST00000533094.1_Intron|GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000282499.5_Missense_Mutation_p.G796E|RNU6-277P_ENST00000516272.1_RNA|GRIA4_ENST00000393127.2_Intron			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	796					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G796E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GGTGAATGTGGACCCAAGGAC	0.468																																																1	Substitution - Missense(1)	kidney(1)											112	111	112					11																	105842733		2201	4299	6500	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2387G>A	11.37:g.105842733G>A	ENSP00000435775:p.Gly796Glu		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886680	0.91814	.	.	ENSG00000152578	ENST00000282499;ENST00000530497	T;T	0.50548	0.74;0.74	5.55	5.55	0.83447	Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000007	T	0.51143	0.1657	N	0.20610	0.595	0.80722	D	1	P	0.51240	0.943	P	0.55391	0.775	T	0.53641	-0.8410	10	0.54805	T	0.06	.	19.5116	0.95144	0.0:0.0:1.0:0.0	.	796	P48058	GRIA4_HUMAN	E	796	ENSP00000282499:G796E;ENSP00000435775:G796E	ENSP00000282499:G796E	G	+	2	0	GRIA4	105347943	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.619000	0.88677	0.655000	0.94253	GGA		0.468	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			A	105842733	G	A	105842733	3	1	433	1	0	0	0	0	1	0	0	0	6772	1174	41	2	2597	2	GRIA4	11	105842733	Missense_Mutation	SNP	G	TCGA-BP-5184-01A-01D-1429-08	22965010	105842733	29163783	20	23752											
FDXACB1	91893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111749783	111749783	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr11:111749783T>C	ENST00000260257.4	-	1	121	c.74A>G	c.(73-75)gAt>gGt	p.D25G	ALG9_ENST00000527377.1_5'Flank|C11orf1_ENST00000528125.1_Intron|ALG9_ENST00000524880.1_Missense_Mutation_p.D25G|C11orf1_ENST00000530214.1_5'Flank|C11orf1_ENST00000529270.1_5'Flank|C11orf1_ENST00000260276.3_5'Flank|FDXACB1_ENST00000542429.1_5'UTR	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	25					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.D25G(4)		endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						AGTGCTCTGATCCAGGGTTTC	0.667											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				4	Substitution - Missense(4)	kidney(4)											29	39	36					11																	111749783		1988	4178	6166	SO:0001583	missense	91893				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.74A>G	11.37:g.111749783T>C	ENSP00000260257:p.Asp25Gly	1437	A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.345140	0.41498	.	.	ENSG00000086848;ENSG00000255561	ENST00000428306;ENST00000260257	T	0.27557	1.66	6.17	1.29	0.21616	Domain of unknown function DUF2431 (1);	0.531773	0.22239	N	0.062716	T	0.09291	0.0229	N	0.02665	-0.54	0.58432	D	0.999996	B	0.10296	0.003	B	0.08055	0.003	T	0.12426	-1.0548	10	0.19590	T	0.45	.	3.7088	0.08411	0.1574:0.2491:0.0:0.5934	.	25	Q9BRP7	FDXA1_HUMAN	G	25	ENSP00000260257:D25G	ENSP00000387627:D25G	D	-	2	0	FDXACB1;ALG9	111254993	0.008000	0.16893	0.366000	0.25914	0.040000	0.13550	0.676000	0.25247	0.520000	0.28426	0.533000	0.62120	GAT		0.667	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		C	111749783	T	C	111749783	3	2	433	1	0	0	0	0	1	0	0	0	5808	1435	50	3	1820	3	FDXACB1	11	111749783	Missense_Mutation	SNP	T	TCGA-BP-5184-01A-01D-1429-08	5907050	111749783	23256733	21	23753											
NCAPD3	23310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	134062791	134062791	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr11:134062791C>T	ENST00000534548.2	-	16	1902	c.1838G>A	c.(1837-1839)tGc>tAc	p.C613Y		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	613					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.C613Y(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GATCTGCACGCATCTAGGCTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											56	56	56					11																	134062791		2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1838G>A	11.37:g.134062791C>T	ENSP00000433681:p.Cys613Tyr		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	3.306	-0.141787	0.06669	.	.	ENSG00000151503	ENST00000534548	T	0.65549	-0.16	5.37	3.5	0.40072	Armadillo-like helical (1);Armadillo-type fold (1);	0.390189	0.32935	N	0.005465	T	0.45276	0.1334	L	0.47716	1.5	0.54753	D	0.999987	B	0.06786	0.001	B	0.04013	0.001	T	0.30060	-0.9991	10	0.02654	T	1	-4.4051	6.4937	0.22130	0.0:0.6555:0.1486:0.1958	.	613	P42695	CNDD3_HUMAN	Y	613	ENSP00000433681:C613Y	ENSP00000431612:C613Y	C	-	2	0	NCAPD3	133568001	0.855000	0.29742	0.167000	0.22817	0.053000	0.15095	2.072000	0.41510	0.752000	0.32923	-0.226000	0.12346	TGC		0.498	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		T	134062791	C	T	134062791	3	4	433	1	0	0	0	0	1	0	0	0	10208	710	25	2	2738	2	NCAPD3	11	134062791	Missense_Mutation	SNP	C	TCGA-BP-5184-01A-01D-1429-08	22313008	134062791	943725	22	23754											
TRPV4	59341	broad.mit.edu;hgsc.bcm.edu|hgsc.bcm.edu	37	12	110226511	110226512	+	Missense_Mutation	DNP	GG	GG	AC	rs576390203		TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr12:110226511_110226512GG>AC	ENST00000418703.2	-	12	1995_1996	c.1901_1902CC>GT	c.(1900-1902)tCC>tGT	p.S634C	TRPV4_ENST00000537083.1_Missense_Mutation_p.S574C|TRPV4_ENST00000536838.1_Missense_Mutation_p.S600C|TRPV4_ENST00000346520.2_Missense_Mutation_p.S574C|TRPV4_ENST00000544971.1_Missense_Mutation_p.S527C|TRPV4_ENST00000541794.1_Missense_Mutation_p.S587C|TRPV4_ENST00000392719.2_Missense_Mutation_p.S587C|TRPV4_ENST00000261740.2_Missense_Mutation_p.S634C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	634					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.S634C(1)|p.S634S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGTTCAGGAGGGAGACCAGGGC	0.579																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1901_1902delinsAC	12.37:g.110226511_110226512delinsAC	ENSP00000406191:p.Ser634Cys		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent|Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1																																																																																				0.579	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		AC	110226512	GG	AC	110226511	3	1	433	1	0	0	0	0	1	0	0	0	16603	1219	43	2	729	2	TRPV4	12	110226511	Missense_Mutation	DNP	GG	TCGA-BP-5184-01A-01D-1429-08		110226511	23625384	23	23755											
ZC3H13	23091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	46584527	46584527	+	Silent	SNP	A	A	G	rs374265880		TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr13:46584527A>G	ENST00000242848.4	-	7	1050	c.702T>C	c.(700-702)gaT>gaC	p.D234D	ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Silent_p.D234D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	234	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D234D(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATGTCTTCCTATCTTTCTTGC	0.423																																					Esophageal Squamous(187;747 2077 11056 31291 44172)											1	Substitution - coding silent(1)	kidney(1)						A		0,4406		0,0,2203	121	113	115		702	-5.5	0.9	13		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZC3H13	NM_015070.3		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		234/1565	46584527	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.702T>C	13.37:g.46584527A>G			A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37																																																																																					0.423	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		G	46584527	A	G	46584527	2	3	433	1	0	0	0	0	0	0	0	1	17570	446	16	3		3	ZC3H13	13	46584527	Silent	SNP	A	TCGA-BP-5184-01A-01D-1429-08		46584527	68585351	24	23756											
PRKD1	5587	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	30066775	30066775	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr14:30066775C>A	ENST00000331968.5	-	16	2585	c.2356G>T	c.(2356-2358)Gat>Tat	p.D786Y	PRKD1_ENST00000415220.2_Missense_Mutation_p.D794Y	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	786	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.D786Y(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATGTCTTCATCTTCATTAAAT	0.413																																																2	Substitution - Missense(2)	kidney(2)											152	142	146					14																	30066775		2203	4300	6503	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2356G>T	14.37:g.30066775C>A	ENSP00000333568:p.Asp786Tyr		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618655	0.87460	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.83673	-1.75;-1.75	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	M	0.77406	2.37	0.80722	D	1	D	0.63046	0.992	D	0.63597	0.916	D	0.91419	0.5157	10	0.87932	D	0	-20.7771	20.0303	0.97534	0.0:1.0:0.0:0.0	.	786	Q15139	KPCD1_HUMAN	Y	786;794	ENSP00000333568:D786Y;ENSP00000390535:D794Y	ENSP00000333568:D786Y	D	-	1	0	PRKD1	29136526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.794000	0.96219	0.650000	0.86243	GAT		0.413	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		A	30066775	C	A	30066775	3	1	433	1	0	0	0	0	1	0	0	0	12523	913	32	4	394	4	PRKD1	14	30066775	Missense_Mutation	SNP	C	TCGA-BP-5184-01A-01D-1429-08		30066775	77282765	25	23757											
ZNF592	9640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	85326331	85326331	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr15:85326331G>T	ENST00000560079.2	+	4	713	c.425G>T	c.(424-426)aGt>aTt	p.S142I	ZNF592_ENST00000299927.3_Missense_Mutation_p.S142I	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	142					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S142I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AACCAGTTCAGTCCAATCTCC	0.483																																																1	Substitution - Missense(1)	kidney(1)											112	120	117					15																	85326331		2203	4299	6502	SO:0001583	missense	9640			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.425G>T	15.37:g.85326331G>T	ENSP00000452877:p.Ser142Ile		Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405752	0.62288	.	.	ENSG00000166716	ENST00000299927	T	0.01252	5.1	6.06	6.06	0.98353	.	0.036447	0.85682	D	0.000000	T	0.06826	0.0174	L	0.52573	1.65	0.54753	D	0.999987	D	0.89917	1.0	D	0.74674	0.984	T	0.04427	-1.0952	10	0.87932	D	0	-13.8171	18.1147	0.89549	0.0:0.0:1.0:0.0	.	142	Q92610	ZN592_HUMAN	I	142	ENSP00000299927:S142I	ENSP00000299927:S142I	S	+	2	0	ZNF592	83127335	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.461000	0.80834	2.882000	0.98803	0.655000	0.94253	AGT		0.483	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		T	85326331	G	T	85326331	3	4	433	1	0	0	0	0	1	0	0	0	18027	1029	36	4	427	4	ZNF592	15	85326331	Missense_Mutation	SNP	G	TCGA-BP-5184-01A-01D-1429-08		85326331	17205061	26	23758											
ALPK2	115701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	56205081	56205081	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr18:56205081C>T	ENST00000361673.3	-	5	2551	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	780						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E780K(1)|p.E146K(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTGTGGGTTCAGGGGAAGCA	0.537																																																2	Substitution - Missense(2)	kidney(2)											155	140	145					18																	56205081		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2338G>A	18.37:g.56205081C>T	ENSP00000354991:p.Glu780Lys		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521097	0.64747	.	.	ENSG00000198796	ENST00000361673	T	0.47177	0.85	5.57	3.74	0.42951	.	1.540450	0.04021	N	0.299793	T	0.56441	0.1985	L	0.52573	1.65	0.09310	N	1	P;P	0.46912	0.886;0.728	P;B	0.48425	0.577;0.321	T	0.49380	-0.8946	10	0.72032	D	0.01	-0.617	12.4279	0.55557	0.0:0.6619:0.3381:0.0	.	780;780	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	K	780	ENSP00000354991:E780K	ENSP00000354991:E780K	E	-	1	0	ALPK2	54356061	0.026000	0.19158	0.003000	0.11579	0.016000	0.09150	1.316000	0.33620	0.680000	0.31366	0.591000	0.81541	GAA		0.537	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		T	56205081	C	T	56205081	3	4	433	1	0	0	0	0	1	0	0	0	545	835	29	2	4210	2	ALPK2	18	56205081	Missense_Mutation	SNP	C	TCGA-BP-5184-01A-01D-1429-08		56205081	21872167	27	23759											
OLFM2	93145	hgsc.bcm.edu;ucsc.edu	37	19	9968474	9968475	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr19:9968474_9968475insAT	ENST00000264833.4	-	3	461_462	c.276_277insAT	c.(274-279)tatgtafs	p.V93fs	OLFM2_ENST00000590841.1_Frame_Shift_Ins_p.V15fs	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	93					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ATGCCGCGTACATACTGGAGGT	0.619																																																0																																										SO:0001589	frameshift_variant	93145			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.275_276dupAT	19.37:g.9968475_9968476dupAT	ENSP00000264833:p.Val93fs		Q6IMJ3|Q96FC2	Frame_Shift_Ins	INS	ENST00000264833.4	37	CCDS12221.1																																																																																				0.619	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			AT	9968475	-	AT	9968474	7	5	433	1	0	1	1	0	0	0	0	0	10855	478	17	0	1103	0	OLFM2	19	9968474	Frame_Shift_Ins	INS	-	TCGA-BP-5184-01A-01D-1429-08		9968474	49160509	28	23760											
KCNN4	3783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44273604	44273604	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr19:44273604C>T	ENST00000262888.3	-	6	1434	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	347	Calmodulin-binding.				calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)	p.A347T(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	GCGTTGATGGCGGCCAGCAGC	0.587																																																1	Substitution - Missense(1)	kidney(1)											73	67	69					19																	44273604		2203	4300	6503	SO:0001583	missense	3783			AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.1039G>A	19.37:g.44273604C>T	ENSP00000262888:p.Ala347Thr		Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394349	0.96009	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	D	0.99886	-7.52	5.23	5.23	0.72850	Calmodulin-binding domain (2);	0.113604	0.64402	D	0.000015	D	0.99880	0.9943	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96218	0.9158	10	0.87932	D	0	-17.5868	16.6654	0.85252	0.0:1.0:0.0:0.0	.	347	O15554	KCNN4_HUMAN	T	347;215	ENSP00000262888:A347T	ENSP00000262888:A347T	A	-	1	0	KCNN4	48965444	0.999000	0.42202	0.992000	0.48379	0.969000	0.65631	4.254000	0.58798	2.612000	0.88384	0.655000	0.94253	GCC		0.587	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		T	44273604	C	T	44273604	3	4	433	1	0	0	0	0	1	0	0	0	8083	768	27	1	256	1	KCNN4	19	44273604	Missense_Mutation	SNP	C	TCGA-BP-5184-01A-01D-1429-08	34305130	44273604	14855379	29	23761											
CDK5RAP1	51654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31946924	31946924	+	Silent	SNP	G	G	A			TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chr20:31946924G>A	ENST00000357886.4	-	15	1884	c.1731C>T	c.(1729-1731)acC>acT	p.T577T	CDK5RAP1_ENST00000346416.2_Silent_p.T563T|CDK5RAP1_ENST00000339269.5_Silent_p.T486T|CDK5RAP1_ENST00000473997.1_Silent_p.T473T			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	577	CDK5R1-binding.|TRAM.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.T563T(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						AACTGGCTGAGGTGATCTGAA	0.502																																																1	Substitution - coding silent(1)	kidney(1)											107	98	101					20																	31946924		2203	4300	6503	SO:0001819	synonymous_variant	51654			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1731C>T	20.37:g.31946924G>A			A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	37		.	.	.	.	.	.	.	.	.	.	G	0.193	-1.051828	0.01981	.	.	ENSG00000101391	ENST00000427097	.	.	.	5.2	-3.18	0.05186	.	.	.	.	.	T	0.36248	0.0960	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33343	-0.9872	4	.	.	.	-10.4828	0.2082	0.00153	0.2949:0.2423:0.2332:0.2295	.	.	.	.	L	232	.	.	P	-	2	0	CDK5RAP1	31410585	0.907000	0.30839	0.701000	0.30321	0.038000	0.13279	-0.253000	0.08794	-0.629000	0.05575	-0.882000	0.02950	CCT		0.502	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		A	31946924	G	A	31946924	2	1	433	1	0	0	0	0	0	0	0	1	3147	987	35	2		2	CDK5RAP1	20	31946924	Silent	SNP	G	TCGA-BP-5184-01A-01D-1429-08		31946924	31078596	30	23762											
FGF13	2258	broad.mit.edu;ucsc.edu	37	X	137715047	137715047	+	Silent	SNP	G	G	A	rs371293414		TCGA-BP-5184-01A-01D-1429-08	TCGA-BP-5184-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddebed14-f47f-46e6-ac39-c74ed3363211	5d1f5125-65c2-4c47-843d-da1c531fdb04	g.chrX:137715047G>A	ENST00000315930.6	-	5	1363	c.702C>T	c.(700-702)aaC>aaT	p.N234N	FGF13_ENST00000541469.1_Silent_p.N188N|FGF13_ENST00000305414.4_Silent_p.N181N|FGF13_ENST00000441825.2_Silent_p.N215N|FGF13_ENST00000370603.3_Silent_p.N244N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	234					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.N244N(1)|p.N234N(1)|p.N181N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ATTTGCCTCCGTTCAGCACGC	0.527																																																3	Substitution - coding silent(3)	kidney(3)						G	,,,,,	0,3835		0,0,0,1632,571	230	177	195		564,732,645,645,702,543	-8.9	0.6	X		195	2,6726		0,1,1,2427,1871	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FGF13	NM_001139498.1,NM_001139500.1,NM_001139501.1,NM_001139502.1,NM_004114.3,NM_033642.2	,,,,,	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	,,,,,	188/200,244/256,215/227,215/227,234/246,181/193	137715047	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	2258			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.702C>T	X.37:g.137715047G>A			B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	ENST00000315930.6	37	CCDS14665.1																																																																																				0.527	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		A	137715047	G	A	137715047	2	1	433	1	0	0	0	0	0	0	0	1	5844	1136	40	1		1	FGF13	23	137715047	Silent	SNP	G	TCGA-BP-5184-01A-01D-1429-08		137715047	17555513	31	23763											
EPHA8	2046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22920016	22920016	+	Splice_Site	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:22920016G>C	ENST00000166244.3	+	7	1512		c.e7-1			NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.?(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCCGTGGCAGGACAAGGAGA	0.652																																																1	Unknown(1)	kidney(1)											35	33	34					1																	22920016		2201	4299	6500	SO:0001630	splice_region_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1441-1G>C	1.37:g.22920016G>C			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Splice_Site	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150926	0.78001	.	.	ENSG00000070886	ENST00000166244	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9826	0.71321	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA8	22792603	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.458000	0.97634	2.169000	0.68431	0.591000	0.81541	.		0.652	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	Intron	C	22920016	G	C	22920016	5	2	434	1	0	0	0	0	0	0	1	0	5175	1014	35	4	1639	4	EPHA8	1	22920016	Splice_Site	SNP	G	TCGA-BP-5185-01A-01D-1429-08		22920016	226330605	1	23764											
MED18	54797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28661113	28661113	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:28661113T>A	ENST00000373842.4	+	3	468	c.259T>A	c.(259-261)Tac>Aac	p.Y87N	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.Y87N	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	87						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Y87N(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		GCATCTGCGCTACCTGGGACA	0.577																																																2	Substitution - Missense(2)	kidney(2)											134	145	141					1																	28661113		2203	4300	6503	SO:0001583	missense	54797			BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.259T>A	1.37:g.28661113T>A	ENSP00000362948:p.Tyr87Asn		D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	37	CCDS322.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.859286	0.91433	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.75	5.75	0.90469	Mediator complex, subunit Med18, metazoa/fungi (1);	0.058184	0.64402	D	0.000001	T	0.76097	0.3940	M	0.78049	2.395	0.34823	D	0.738858	D	0.89917	1.0	D	0.91635	0.999	D	0.84736	0.0748	9	0.87932	D	0	-16.5637	13.9886	0.64350	0.0:0.0:0.0:1.0	.	87	Q9BUE0	MED18_HUMAN	N	87	.	ENSP00000362948:Y87N	Y	+	1	0	MED18	28533700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.645000	0.83430	2.202000	0.70862	0.533000	0.62120	TAC		0.577	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		A	28661113	T	A	28661113	3	1	434	1	0	0	0	0	1	0	0	0	9438	1522	53	5	265	5	MED18	1	28661113	Missense_Mutation	SNP	T	TCGA-BP-5185-01A-01D-1429-08	5741097	28661113	220589508	2	23765											
RNF19B	127544	broad.mit.edu	37	1	33415334	33415334	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:33415334A>G	ENST00000373456.7	-	2	676	c.677T>C	c.(676-678)cTa>cCa	p.L226P	RNF19B_ENST00000235150.4_Missense_Mutation_p.L226P|RNF19B_ENST00000356990.5_Missense_Mutation_p.L226P	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	226					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L35P(1)|p.L226P(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCACAAGTTAGCTTCGGGCA	0.478																																																2	Substitution - Missense(2)	kidney(2)											103	87	93					1																	33415334		2203	4300	6503	SO:0001583	missense	127544			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.677T>C	1.37:g.33415334A>G	ENSP00000362555:p.Leu226Pro		B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	CCDS372.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.025335	0.75390	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.81415	-1.49;-1.49;-1.49	5.13	5.13	0.70059	Zinc finger, C6HC-type (2);	0.000000	0.64402	D	0.000002	D	0.88658	0.6496	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.995	D;D;D	0.79784	0.947;0.993;0.966	D	0.90061	0.4156	10	0.87932	D	0	.	15.2408	0.73468	1.0:0.0:0.0:0.0	.	226;226;226	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	P	226;226;226;125	ENSP00000362555:L226P;ENSP00000349482:L226P;ENSP00000235150:L226P	ENSP00000235150:L226P	L	-	2	0	RNF19B	33187921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.334000	0.96470	2.066000	0.61787	0.383000	0.25322	CTA		0.478	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		G	33415334	A	G	33415334	3	3	434	1	0	0	0	0	1	0	0	0	13477	420	15	3	1579	3	RNF19B	1	33415334	Missense_Mutation	SNP	A	TCGA-BP-5185-01A-01D-1429-08	4754221	33415334	215835287	3	23766											
ATXN7L2	127002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110031529	110031529	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:110031529G>C	ENST00000369870.3	+	7	859	c.844G>C	c.(844-846)Gtg>Ctg	p.V282L		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	282	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.							p.V282L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGACGTGCTGGTGGCAGAGCT	0.617																																																1	Substitution - Missense(1)	kidney(1)											42	45	44					1																	110031529		2203	4300	6503	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.844G>C	1.37:g.110031529G>C	ENSP00000358886:p.Val282Leu			Missense_Mutation	SNP	ENST00000369870.3	37	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995501	0.35226	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.20069	2.1	5.72	5.72	0.89469	SCA7 domain (2);	0.000000	0.53938	D	0.000043	T	0.07007	0.0178	N	0.00879	-1.12	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	T	0.26018	-1.0115	10	0.02654	T	1	-10.3793	16.7934	0.85595	0.0:0.0:1.0:0.0	.	282	Q5T6C5	AT7L2_HUMAN	L	282	ENSP00000358886:V282L	ENSP00000358886:V282L	V	+	1	0	ATXN7L2	109833052	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.536000	0.67180	2.698000	0.92095	0.561000	0.74099	GTG		0.617	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		C	110031529	G	C	110031529	3	2	434	1	0	0	0	0	1	0	0	0	1217	1261	44	4	870	4	ATXN7L2	1	110031529	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	76616195	110031529	139219092	4	23767											
ZNF687	57592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151259347	151259347	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:151259347C>G	ENST00000368879.2	+	2	678	c.580C>G	c.(580-582)Cct>Gct	p.P194A		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	194	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P194A(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACCCCGCCTCCTTTCCCCTC	0.632																																																1	Substitution - Missense(1)	kidney(1)											40	44	43					1																	151259347		2203	4300	6503	SO:0001583	missense	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.580C>G	1.37:g.151259347C>G	ENSP00000357874:p.Pro194Ala		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37		.	.	.	.	.	.	.	.	.	.	C	7.062	0.566584	0.13560	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00776	5.71;5.71;6.04	4.41	-0.00881	0.14003	.	0.484865	0.15413	N	0.263661	T	0.00241	0.0007	L	0.27053	0.805	0.28882	N	0.894324	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.003	T	0.27839	-1.0062	9	.	.	.	.	6.6081	0.22735	0.0:0.5903:0.1386:0.2711	.	194;194;194	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	A	194	ENSP00000336620:P194A;ENSP00000319829:P194A;ENSP00000357874:P194A	.	P	+	1	0	ZNF687	149525971	0.062000	0.20869	0.991000	0.47740	0.731000	0.41821	-0.208000	0.09371	0.138000	0.18790	0.462000	0.41574	CCT		0.632	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		G	151259347	C	G	151259347	3	3	434	1	0	0	0	0	1	0	0	0	18097	855	30	4	582	4	ZNF687	1	151259347	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	41227818	151259347	97991274	5	23768											
FLG	2312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152286259	152286260	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:152286259_152286260delTG	ENST00000368799.1	-	3	1137_1138	c.1102_1103delCA	c.(1102-1104)cagfs	p.Q368fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	368	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATGCAGTCTGTCCACGAGAG	0.564									Ichthyosis																																							0																																										SO:0001589	frameshift_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1102_1103delCA	1.37:g.152286259_152286260delTG	ENSP00000357789:p.Gln368fs		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	CCDS30860.1																																																																																				0.564	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		-	152286260	TG	-	152286259	7	5	434	1	0	1	0	1	0	0	0	0	5924	1580	55	0	11086	0	FLG	1	152286259	Frame_Shift_Del	DEL	TG	TCGA-BP-5185-01A-01D-1429-08	1026912	152286259	96964362	6	23769	178	2									
FLG	2312	hgsc.bcm.edu	37	1	152286260	152286260	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:152286260G>C	ENST00000368799.1	-	3	1137	c.1102C>G	c.(1102-1104)Cag>Gag	p.Q368E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	368	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGCAGTCTGTCCACGAGAG	0.562									Ichthyosis																																							0													306	298	301					1																	152286260		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1102C>G	1.37:g.152286260G>C	ENSP00000357789:p.Gln368Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.40	1.340219	0.24339	.	.	ENSG00000143631	ENST00000368799	T	0.00691	5.84	3.5	-6.72	0.01755	.	.	.	.	.	T	0.00356	0.0011	M	0.63428	1.95	0.09310	N	1	P	0.52061	0.95	P	0.51355	0.667	T	0.50558	-0.8814	9	0.02654	T	1	-0.0284	2.2646	0.04076	0.0979:0.2708:0.2207:0.4106	.	368	P20930	FILA_HUMAN	E	368	ENSP00000357789:Q368E	ENSP00000357789:Q368E	Q	-	1	0	FLG	150552884	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.054000	0.11826	-0.860000	0.04099	0.400000	0.26472	CAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		C	152286260	G	C	152286260	3	2	434	1	0	0	0	0	1	0	0	0	5924	1386	48	4	11087	4	FLG	1	152286260	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	1	152286260	96964361	7	23770	178	2									
UBAP2L	9898	broad.mit.edu;ucsc.edu	37	1	154229659	154229659	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:154229659A>C	ENST00000361546.2	+	18	2320	c.2278A>C	c.(2278-2280)Agt>Cgt	p.S760R	UBAP2L_ENST00000343815.6_Missense_Mutation_p.S760R|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S760R|AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S771R			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	760					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.S760R(2)|p.S256R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAATAGTGGCAGTAGCCTGGG	0.552																																																3	Substitution - Missense(3)	kidney(3)											104	95	98					1																	154229659		2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2278A>C	1.37:g.154229659A>C	ENSP00000355343:p.Ser760Arg		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.90|17.90	3.503069|3.503069	0.64298|0.64298	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000433615;ENST00000428595|ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	.|T;T;T;T	.|0.44482	.|0.92;0.92;0.92;0.92	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.369337	.|0.32608	.|N	.|0.005880	T|T	0.33556|0.33556	0.0867|0.0867	L|L	0.34521|0.34521	1.04|1.04	0.44908|0.44908	D|D	0.997927|0.997927	.|D;D;D;D;D	.|0.60160	.|0.978;0.987;0.987;0.987;0.978	.|P;P;P;P;P	.|0.52343	.|0.5;0.696;0.696;0.696;0.5	T|T	0.23476|0.23476	-1.0187|-1.0187	5|10	.|0.72032	.|D	.|0.01	-9.1538|-9.1538	13.5535|13.5535	0.61747|0.61747	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|674;771;753;760;760	.|B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.|.;.;.;.;UBP2L_HUMAN	P|R	90;38|760;760;256;256;771;760	.|ENSP00000345308:S760R;ENSP00000389445:S760R;ENSP00000271877:S771R;ENSP00000355343:S760R	.|ENSP00000271877:S771R	Q|S	+|+	2|1	0|0	UBAP2L|UBAP2L	152496283|152496283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	2.120000|2.120000	0.41968|0.41968	2.326000|2.326000	0.78906|0.78906	0.528000|0.528000	0.53228|0.53228	CAG|AGT		0.552	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		C	154229659	A	C	154229659	3	2	434	1	0	0	0	0	1	0	0	0	16843	188	7	5	2348	5	UBAP2L	1	154229659	Missense_Mutation	SNP	A	TCGA-BP-5185-01A-01D-1429-08	1943399	154229659	95020962	8	23771											
CHI3L1	1116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203148901	203148901	+	Missense_Mutation	SNP	G	G	C	rs371844437		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:203148901G>C	ENST00000255409.3	-	9	1124	c.999C>G	c.(997-999)agC>agG	p.S333R		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	333	Important for AKT1 activation and IL8 production. {ECO:0000250}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S333R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGCTTTTGACGCTTTCCTGGT	0.587																																																1	Substitution - Missense(1)	kidney(1)											182	153	163					1																	203148901		2203	4300	6503	SO:0001583	missense	1116			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.999C>G	1.37:g.203148901G>C	ENSP00000255409:p.Ser333Arg		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	CCDS1435.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.46|11.46	1.644516|1.644516	0.29246|0.29246	.|.	.|.	ENSG00000133048|ENSG00000133048	ENST00000404436|ENST00000255409	.|T	.|0.10960	.|2.82	5.01|5.01	-4.14|-4.14	0.03892|0.03892	.|Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.43875|0.43875	0.1267|0.1267	H|H	0.98754|0.98754	4.32|4.32	0.36239|0.36239	D|D	0.853132|0.853132	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.997	T|T	0.62941|0.62941	-0.6747|-0.6747	5|10	.|0.87932	.|D	.|0	-28.971|-28.971	11.7425|11.7425	0.51801|0.51801	0.6438:0.0:0.3562:0.0|0.6438:0.0:0.3562:0.0	.|.	.|69;333	.|B3KTE6;P36222	.|.;CH3L1_HUMAN	G|R	102|333	.|ENSP00000255409:S333R	.|ENSP00000255409:S333R	R|S	-|-	1|3	0|2	CHI3L1|CHI3L1	201415524|201415524	0.999000|0.999000	0.42202|0.42202	0.003000|0.003000	0.11579|0.11579	0.008000|0.008000	0.06430|0.06430	0.657000|0.657000	0.24963|0.24963	-0.669000|-0.669000	0.05289|0.05289	-0.339000|-0.339000	0.08088|0.08088	CGT|AGC		0.587	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		C	203148901	G	C	203148901	3	2	434	1	0	0	0	0	1	0	0	0	3342	1078	38	4	160	4	CHI3L1	1	203148901	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	48919242	203148901	46101720	9	23772											
MYCN	4613	broad.mit.edu;hgsc.bcm.edu	37	2	16085629	16085629	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:16085629G>A	ENST00000281043.3	+	3	1102	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	269	Asp/Glu-rich (acidic).				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E269K(1)|p.E269*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			tgaagatgatgaagaggaaga	0.423			A		neuroblastoma																																		Dom	yes		2	2p24.1	4613	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"		O	2	Substitution - Missense(1)|Substitution - Nonsense(1)	urinary_tract(1)|kidney(1)											80	64	69					2																	16085629		2203	4300	6503	SO:0001583	missense	4613			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.805G>A	2.37:g.16085629G>A	ENSP00000281043:p.Glu269Lys		Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198005	0.79015	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.29655	1.56	4.61	4.61	0.57282	Transcription regulator Myc, N-terminal (1);	0.659654	0.14692	U	0.304088	T	0.56217	0.1970	M	0.81682	2.555	0.80722	D	1	D	0.61697	0.99	P	0.59487	0.858	T	0.62581	-0.6824	10	0.72032	D	0.01	-15.9156	17.4339	0.87546	0.0:0.0:1.0:0.0	.	269	P04198	MYCN_HUMAN	K	269;187	ENSP00000281043:E269K	ENSP00000281043:E269K	E	+	1	0	MYCN	16003080	1.000000	0.71417	0.598000	0.28837	0.935000	0.57460	9.276000	0.95745	2.301000	0.77427	0.561000	0.74099	GAA		0.423	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		A	16085629	G	A	16085629	3	1	434	1	0	0	0	0	1	0	0	0	10023	1291	45	2	811	2	MYCN	2	16085629	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08		16085629	227113744	10	23773											
PPM1B	5495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44428909	44428909	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:44428909C>A	ENST00000282412.4	+	2	983	c.571C>A	c.(571-573)Cgt>Agt	p.R191S	PPM1B_ENST00000409895.4_Missense_Mutation_p.R191S|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.R191S|PPM1B_ENST00000378551.2_Missense_Mutation_p.R191S	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	191					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.R191S(3)|p.R191C(1)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GATGATACAACGTGTTAATGG	0.468																																																4	Substitution - Missense(4)	kidney(3)|large_intestine(1)											182	169	173					2																	44428909		2203	4300	6503	SO:0001583	missense	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.571C>A	2.37:g.44428909C>A	ENSP00000282412:p.Arg191Ser		Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705892	0.68615	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.68	5.68	0.88126	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	H	0.99011	4.4	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998	D	0.85430	0.1148	10	0.87932	D	0	-14.9137	19.8002	0.96504	0.0:1.0:0.0:0.0	.	191;191;191;191;191	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	S	191	ENSP00000390087:R191S;ENSP00000387341:R191S;ENSP00000387287:R191S;ENSP00000282412:R191S;ENSP00000367813:R191S;ENSP00000386982:R191S	ENSP00000282412:R191S	R	+	1	0	PPM1B	44282413	1.000000	0.71417	0.948000	0.38648	0.900000	0.52787	3.804000	0.55568	2.674000	0.91012	0.655000	0.94253	CGT		0.468	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		A	44428909	C	A	44428909	3	1	434	1	0	0	0	0	1	0	0	0	12341	536	19	4	573	4	PPM1B	2	44428909	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	28343280	44428909	198770464	11	23774											
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141643767	141643767	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:141643767G>A	ENST00000389484.3	-	24	4875	c.3904C>T	c.(3904-3906)Ctt>Ttt	p.L1302F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1302					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L1302F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCAATAAAGTAAACTTTGA	0.323										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	kidney(1)											74	76	76					2																	141643767		2202	4298	6500	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3904C>T	2.37:g.141643767G>A	ENSP00000374135:p.Leu1302Phe		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271591	0.80469	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97870	-3.33;-4.58	5.68	5.68	0.88126	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000005	D	0.98713	0.9568	M	0.89414	3.03	0.53005	D	0.999961	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	D	0.98766	1.0726	10	0.48119	T	0.1	.	12.6292	0.56646	0.1179:0.0:0.8821:0.0	.	485;1302	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	F	1302;1240;447	ENSP00000374135:L1302F;ENSP00000413239:L447F	ENSP00000374135:L1302F	L	-	1	0	LRP1B	141360237	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.559000	0.73946	2.673000	0.90976	0.650000	0.86243	CTT		0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		A	141643767	G	A	141643767	3	1	434	1	0	0	0	0	1	0	0	0	8957	1029	36	2	10167	2	LRP1B	2	141643767	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	97214858	141643767	101555606	12	23775											
PKP4	8502	hgsc.bcm.edu;ucsc.edu	37	2	159499100	159499101	+	In_Frame_Ins	INS	-	-	GCAAGT			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:159499100_159499101insGCAAGT	ENST00000389759.3	+	11	1910_1911	c.1798_1799insGCAAGT	c.(1798-1800)ggc>gGCAAGTgc	p.600_601insKC	PKP4_ENST00000389757.3_In_Frame_Ins_p.600_601insKC	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	600					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCTCGTTTTTGGCAAGTCTACA	0.436										HNSCC(62;0.18)																																						0																																										SO:0001652	inframe_insertion	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1799_1804dupGCAAGT	2.37:g.159499101_159499106dupGCAAGT	ENSP00000374409:p.Gly600_Lys601insLysCys		Q86W91	In_Frame_Ins	INS	ENST00000389759.3	37	CCDS33305.1																																																																																				0.436	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			GCAAGT	159499101	-	GCAAGT	159499100	7	5	434	1	0	1	1	0	0	0	0	0	11989	1348	47	0	1836	0	PKP4	2	159499100	In_Frame_Ins	INS	-	TCGA-BP-5185-01A-01D-1429-08	17855333	159499100	83700273	13	23776	179	2									
PKP4	8502	broad.mit.edu;hgsc.bcm.edu	37	2	159499107	159499107	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:159499107C>G	ENST00000389759.3	+	11	1917	c.1805C>G	c.(1804-1806)tCt>tGt	p.S602C	PKP4_ENST00000389757.3_Missense_Mutation_p.S602C	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	602					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.S602C(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTGGCAAGTCTACAGATGAA	0.428										HNSCC(62;0.18)																																						1	Substitution - Missense(1)	kidney(1)											148	148	148					2																	159499107		2203	4300	6503	SO:0001583	missense	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1805C>G	2.37:g.159499107C>G	ENSP00000374409:p.Ser602Cys		Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559736	0.86335	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.50813	0.73;0.73	6.06	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.055638	0.64402	D	0.000001	T	0.65417	0.2689	M	0.67397	2.05	0.58432	D	0.999998	D;D;D;D;D	0.71674	0.997;0.996;0.997;0.991;0.998	P;P;P;P;D	0.65573	0.894;0.784;0.843;0.706;0.936	T	0.68108	-0.5496	10	0.54805	T	0.06	-10.5439	15.2181	0.73285	0.0:0.9331:0.0:0.0669	.	454;557;602;602;453	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	C	453;602;602	ENSP00000374407:S602C;ENSP00000374409:S602C	ENSP00000374407:S602C	S	+	2	0	PKP4	159207353	1.000000	0.71417	0.987000	0.45799	0.999000	0.98932	7.487000	0.81328	1.582000	0.49881	0.655000	0.94253	TCT		0.428	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			G	159499107	C	G	159499107	3	3	434	1	0	0	0	0	1	0	0	0	11989	913	32	4	1843	4	PKP4	2	159499107	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	7	159499107	83700266	14	23777	179	2									
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179428026	179428026	+	Silent	SNP	T	T	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:179428026T>C	ENST00000591111.1	-	276	78134	c.77910A>G	c.(77908-77910)gaA>gaG	p.E25970E	TTN_ENST00000342175.6_Silent_p.E18738E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.E27611E|TTN_ENST00000359218.5_Silent_p.E18671E|TTN_ENST00000460472.2_Silent_p.E18546E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.E25043E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25970	Fibronectin type-III 89. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E25043E(1)|p.E18671E(1)|p.E25041E(1)|p.E18546E(1)|p.E18738E(1)		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)			CCGCAGCAGCTTCTTTGACCT	0.458																																																5	Substitution - coding silent(5)	kidney(5)											84	84	84					2																	179428026		2050	4216	6266	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77910A>G	2.37:g.179428026T>C			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179428026	T	C	179428026	2	2	434	1	0	0	0	0	0	0	0	1	16740	1606	56	3		3	TTN	2	179428026	Silent	SNP	T	TCGA-BP-5185-01A-01D-1429-08	19928919	179428026	63771347	15	23778											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179441832	179441832	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:179441832A>T	ENST00000591111.1	-	274	64531	c.64307T>A	c.(64306-64308)cTt>cAt	p.L21436H	TTN_ENST00000342175.6_Missense_Mutation_p.L14204H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L23077H|TTN_ENST00000359218.5_Missense_Mutation_p.L14137H|TTN_ENST00000460472.2_Missense_Mutation_p.L14012H|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L20509H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21436	Fibronectin type-III 55. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L14204H(1)|p.L14012H(1)|p.L14137H(1)|p.L20509H(1)|p.L20507H(1)		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)			TCTCTTTTCAAGTATATAGGA	0.433																																																5	Substitution - Missense(5)	kidney(5)											84	84	84					2																	179441832		1881	4119	6000	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64307T>A	2.37:g.179441832A>T	ENSP00000465570:p.Leu21436His		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	13.85	2.360752	0.41801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81569	0.4850	M	0.92691	3.335	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.72338	0.977;0.977;0.977;0.967	D	0.86239	0.1642	9	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	14012;14137;14204;21436	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	20509;14012;14204;14137;14010	ENSP00000343764:L20509H;ENSP00000434586:L14012H;ENSP00000340554:L14204H;ENSP00000352154:L14137H	ENSP00000340554:L14204H	L	-	2	0	TTN	179150078	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.311000	0.77944	0.533000	0.62120	CTT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179441832	A	T	179441832	3	4	434	1	0	0	0	0	1	0	0	0	16740	72	3	5	38905	5	TTN	2	179441832	Missense_Mutation	SNP	A	TCGA-BP-5185-01A-01D-1429-08	13806	179441832	63757541	16	23779											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179616303	179616303	+	Intron	SNP	T	T	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:179616303T>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E3608D|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			TTTTCAGAAATTCTAAATATT	0.398																																																0													132	135	134					2																	179616303		2201	4298	6499	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1547A>C	2.37:g.179616303T>G			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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.27	1.887673	0.33348	.	.	ENSG00000155657	ENST00000360870	T	0.58506	0.33	5.58	0.634	0.17718	.	.	.	.	.	T	0.34424	0.0897	N	0.17082	0.46	0.80722	D	1	B	0.21381	0.055	B	0.17979	0.02	T	0.05500	-1.0881	9	0.32370	T	0.25	.	5.6314	0.17512	0.0:0.2912:0.2282:0.4807	.	3608	Q8WZ42-6	.	D	3608	ENSP00000354117:E3608D	ENSP00000354117:E3608D	E	-	3	2	TTN	179324548	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.503000	0.22610	0.152000	0.19188	0.533000	0.62120	GAA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179616303	T	G	179616303	1	3	434	0	1	0	0	0	0	0	0	0	16740	1490	52	5		5	TTN	2	179616303	Intron	SNP	T	TCGA-BP-5185-01A-01D-1429-08	174471	179616303	63583070	17	23780											
ZNF804A	91752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	185801058	185801058	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:185801058G>C	ENST00000302277.6	+	4	1529	c.935G>C	c.(934-936)tGc>tCc	p.C312S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	312							metal ion binding (GO:0046872)	p.C312S(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTTCATTTTGCAAGTTTCAA	0.348																																																1	Substitution - Missense(1)	kidney(1)											32	31	31					2																	185801058		2202	4295	6497	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.935G>C	2.37:g.185801058G>C	ENSP00000303252:p.Cys312Ser		A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	7.990	0.753051	0.15778	.	.	ENSG00000170396	ENST00000302277	T	0.43688	0.94	5.57	4.7	0.59300	.	0.089455	0.49916	D	0.000131	T	0.32315	0.0825	L	0.47716	1.5	0.43408	D	0.995547	B	0.26876	0.162	B	0.21917	0.037	T	0.10154	-1.0642	10	0.25106	T	0.35	-2.038	8.3303	0.32182	0.0843:0.1678:0.7479:0.0	.	312	Q7Z570	Z804A_HUMAN	S	312	ENSP00000303252:C312S	ENSP00000303252:C312S	C	+	2	0	ZNF804A	185509303	1.000000	0.71417	0.991000	0.47740	0.441000	0.31987	1.569000	0.36428	1.352000	0.45808	0.591000	0.81541	TGC		0.348	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		C	185801058	G	C	185801058	3	2	434	1	0	0	0	0	1	0	0	0	18175	1319	46	4	949	4	ZNF804A	2	185801058	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	6184755	185801058	57398315	18	23781											
USP40	55230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234431973	234431973	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:234431973C>T	ENST00000427112.2	-	15	2076	c.2041G>A	c.(2041-2043)Gca>Aca	p.A681T	USP40_ENST00000251722.6_Missense_Mutation_p.A681T|USP40_ENST00000450966.1_Missense_Mutation_p.A693T			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	681					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.A693T(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GCTGGGATTGCTAAGGCTGTG	0.512																																																2	Substitution - Missense(2)	kidney(2)											193	183	187					2																	234431973		2015	4180	6195	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2041G>A	2.37:g.234431973C>T	ENSP00000387898:p.Ala681Thr		Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481034	0.63849	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.49720	0.77;0.77;0.77	5.64	3.77	0.43336	.	.	.	.	.	T	0.40247	0.1109	L	0.53249	1.67	0.09310	N	1	B;B	0.32467	0.156;0.372	B;B	0.27170	0.035;0.077	T	0.27365	-1.0076	9	0.49607	T	0.09	.	8.4673	0.32964	0.0:0.7504:0.0:0.2496	.	681;693	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	T	693;681;681	ENSP00000415434:A693T;ENSP00000251722:A681T;ENSP00000387898:A681T	ENSP00000251722:A681T	A	-	1	0	USP40	234096712	0.006000	0.16342	0.003000	0.11579	0.957000	0.61999	0.181000	0.16880	0.676000	0.31285	-0.345000	0.07892	GCA		0.512	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		T	234431973	C	T	234431973	3	4	434	1	0	0	0	0	1	0	0	0	17077	797	28	2	1734	2	USP40	2	234431973	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	48630915	234431973	8767400	19	23782											
AGAP1	116987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	236706509	236706509	+	Silent	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:236706509G>A	ENST00000304032.8	+	7	1360	c.780G>A	c.(778-780)gtG>gtA	p.V260V	AGAP1_ENST00000409457.1_Silent_p.V260V|AGAP1_ENST00000409538.1_Silent_p.V525V|AGAP1_ENST00000428334.2_Silent_p.V99V|AGAP1_ENST00000336665.5_Silent_p.V260V	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	260	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.V260V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCGCGCAGGTGTCTGCCGTGC	0.502																																																1	Substitution - coding silent(1)	kidney(1)											178	173	175					2																	236706509		2203	4300	6503	SO:0001819	synonymous_variant	116987			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.780G>A	2.37:g.236706509G>A			B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	CCDS33408.1																																																																																				0.502	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		A	236706509	G	A	236706509	2	1	434	1	0	0	0	0	0	0	0	1	366	1364	48	2		2	AGAP1	2	236706509	Silent	SNP	G	TCGA-BP-5185-01A-01D-1429-08	2274536	236706509	6492864	20	23783											
ITIH4	3700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52854657	52854657	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr3:52854657delG	ENST00000266041.4	-	13	1920	c.1824delC	c.(1822-1824)cccfs	p.P608fs	ITIH4_ENST00000434759.3_Frame_Shift_Del_p.P520fs|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.P608fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.P608fs|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.P608fs|ITIH4_ENST00000467462.1_5'Flank	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	608					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CGCCTTCCATGGGCTTCTCAG	0.547											OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													110	101	104					3																	52854657		2203	4300	6503	SO:0001589	frameshift_variant	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1824delC	3.37:g.52854657delG	ENSP00000266041:p.Pro608fs	988	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Frame_Shift_Del	DEL	ENST00000266041.4	37	CCDS2865.1																																																																																				0.547	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		-	52854657	G	-	52854657	7	5	434	1	0	1	0	1	0	0	0	0	7908	1335	47	0	1016	0	ITIH4	3	52854657	Frame_Shift_Del	DEL	G	TCGA-BP-5185-01A-01D-1429-08		52854657	145167773	21	23784											
NPHP3	27031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132419270	132419270	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr3:132419270A>G	ENST00000337331.5	-	11	1737	c.1651T>C	c.(1651-1653)Tcc>Ccc	p.S551P	NPHP3_ENST00000326682.8_Missense_Mutation_p.S551P	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	551					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.S551P(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGTTGGGGGAATTCTTCTGT	0.363																																																1	Substitution - Missense(1)	kidney(1)											77	84	82					3																	132419270		2203	4300	6503	SO:0001583	missense	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1651T>C	3.37:g.132419270A>G	ENSP00000338766:p.Ser551Pro		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690620	0.68271	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	T;T	0.80738	-1.41;-1.2	5.8	3.23	0.37069	.	0.103264	0.64402	D	0.000002	T	0.78078	0.4227	L	0.47716	1.5	0.80722	D	1	P	0.43633	0.813	P	0.47891	0.56	T	0.73329	-0.4017	10	0.24483	T	0.36	-4.0962	12.0777	0.53653	0.7282:0.2718:0.0:0.0	.	551	Q7Z494	NPHP3_HUMAN	P	551	ENSP00000319909:S551P;ENSP00000338766:S551P	ENSP00000319909:S551P	S	-	1	0	NPHP3	133901960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.868000	0.69605	0.983000	0.38602	0.528000	0.53228	TCC		0.363	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		G	132419270	A	G	132419270	3	3	434	1	0	0	0	0	1	0	0	0	10582	246	9	3	2409	3	NPHP3	3	132419270	Missense_Mutation	SNP	A	TCGA-BP-5185-01A-01D-1429-08	79564613	132419270	65603160	22	23785											
ATR	545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142184019	142184019	+	Missense_Mutation	SNP	A	A	T	rs587783338		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr3:142184019A>T	ENST00000350721.4	-	41	7082	c.6961T>A	c.(6961-6963)Ttc>Atc	p.F2321I	ATR_ENST00000383101.3_Missense_Mutation_p.F2257I|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2321					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F2321I(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATGATGTAGAACTTTCCATCT	0.343								Other conserved DNA damage response genes																																								1	Substitution - Missense(1)	kidney(1)											82	76	78					3																	142184019		2202	4298	6500	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6961T>A	3.37:g.142184019A>T	ENSP00000343741:p.Phe2321Ile		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.52|13.52	2.260260|2.260260	0.39995|0.39995	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	T;T|.	0.77620|.	-1.11;-1.11|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Protein kinase-like domain (1);|.	0.246709|.	0.42821|.	D|.	0.000641|.	T|T	0.45895|0.45895	0.1365|0.1365	N|N	0.19112|0.19112	0.55|0.55	0.36455|0.36455	D|D	0.866331|0.866331	B|.	0.22003|.	0.063|.	B|.	0.23852|.	0.049|.	T|T	0.52373|0.52373	-0.8584|-0.8584	10|5	0.18276|.	T|.	0.48|.	-7.1063|-7.1063	15.0677|15.0677	0.72008|0.72008	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2321|.	Q13535|.	ATR_HUMAN|.	I|D	2321;2257|167	ENSP00000343741:F2321I;ENSP00000372581:F2257I|.	ENSP00000343741:F2321I|.	F|V	-|-	1|2	0|0	ATR|ATR	143666709|143666709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.810000|2.810000	0.47979|0.47979	1.956000|1.956000	0.56807|0.56807	0.477000|0.477000	0.44152|0.44152	TTC|GTT		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142184019	A	T	142184019	3	4	434	1	0	0	0	0	1	0	0	0	1204	43	2	5	1001	5	ATR	3	142184019	Missense_Mutation	SNP	A	TCGA-BP-5185-01A-01D-1429-08	9764749	142184019	55838411	23	23786											
SCD5	79966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83719576	83719576	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr4:83719576G>A	ENST00000319540.4	-	1	434	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	SCD5_ENST00000273908.4_Missense_Mutation_p.R39C|SCD5_ENST00000282709.4_Missense_Mutation_p.R39C	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	39					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.R39C(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CGCTGCCCGCGCGCGCCTGGC	0.662																																																2	Substitution - Missense(2)	kidney(2)											31	28	29					4																	83719576		2203	4298	6501	SO:0001583	missense	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.115C>T	4.37:g.83719576G>A	ENSP00000316329:p.Arg39Cys		B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578289	0.65878	.	.	ENSG00000145284	ENST00000319540;ENST00000273908;ENST00000282709	T	0.47177	0.85	4.37	2.53	0.30540	.	0.310744	0.31145	N	0.008165	T	0.47985	0.1475	L	0.34521	1.04	0.31440	N	0.672053	D;D;D	0.89917	0.999;1.0;0.997	P;P;P	0.62435	0.832;0.902;0.454	T	0.51356	-0.8716	10	0.62326	D	0.03	-8.814	6.4161	0.21717	0.0:0.1716:0.5184:0.31	.	39;39;39	Q9BSN4;Q86SK9-2;Q86SK9	.;.;SCD5_HUMAN	C	39	ENSP00000316329:R39C	ENSP00000273908:R39C	R	-	1	0	SCD5	83938600	0.008000	0.16893	0.959000	0.39883	0.658000	0.38924	0.650000	0.24858	2.229000	0.72834	0.542000	0.68232	CGC		0.662	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		A	83719576	G	A	83719576	3	1	434	1	0	0	0	0	1	0	0	0	13893	1087	38	1	1103	1	SCD5	4	83719576	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08		83719576	107434700	24	23787											
ARFIP1	27236	hgsc.bcm.edu;ucsc.edu	37	4	153831304	153831304	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr4:153831304delT	ENST00000451320.2	+	9	1219	c.1055delT	c.(1054-1056)cttfs	p.L352fs	ARFIP1_ENST00000429148.2_Frame_Shift_Del_p.L172fs|ARFIP1_ENST00000353617.2_Frame_Shift_Del_p.L352fs|ARFIP1_ENST00000405727.2_Frame_Shift_Del_p.L320fs|ARFIP1_ENST00000356064.3_Frame_Shift_Del_p.L320fs			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	352	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					GAACAGACACTTAAACAGTTC	0.438																																																0													109	109	109					4																	153831304		2203	4300	6503	SO:0001589	frameshift_variant	27236			U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"arfaptin 1"	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.1055delT	4.37:g.153831304delT	ENSP00000395083:p.Leu352fs		Q2M2X4|Q3SYL4|Q9Y2X6	Frame_Shift_Del	DEL	ENST00000451320.2	37	CCDS34080.1																																																																																				0.438	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447		-	153831304	T	-	153831304	7	5	434	1	0	1	0	1	0	0	0	0	854	1609	56	0	1085	0	ARFIP1	4	153831304	Frame_Shift_Del	DEL	T	TCGA-BP-5185-01A-01D-1429-08	70111728	153831304	37322972	25	23788											
NAF1	92345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	164050071	164050071	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr4:164050071G>T	ENST00000274054.2	-	8	1656	c.1463C>A	c.(1462-1464)tCt>tAt	p.S488Y	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	488					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S488Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCCAAAATGAGAATTACTATC	0.428																																																1	Substitution - Missense(1)	kidney(1)											22	24	24					4																	164050071		2186	4266	6452	SO:0001583	missense	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1463C>A	4.37:g.164050071G>T	ENSP00000274054:p.Ser488Tyr		D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323726	0.41096	.	.	ENSG00000145414	ENST00000274054	T	0.37752	1.18	3.84	3.84	0.44239	.	0.536830	0.18152	N	0.150073	T	0.28632	0.0709	L	0.34521	1.04	0.30947	N	0.725217	P	0.50943	0.94	B	0.41813	0.367	T	0.32745	-0.9895	10	0.72032	D	0.01	-7.9955	11.5823	0.50898	0.0:0.0:1.0:0.0	.	488	Q96HR8	NAF1_HUMAN	Y	488	ENSP00000274054:S488Y	ENSP00000274054:S488Y	S	-	2	0	NAF1	164269521	0.964000	0.33143	0.570000	0.28473	0.991000	0.79684	1.981000	0.40628	2.431000	0.82371	0.655000	0.94253	TCT		0.428	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		T	164050071	G	T	164050071	3	4	434	1	0	0	0	0	1	0	0	0	10142	942	33	4	166	4	NAF1	4	164050071	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	10218767	164050071	27104205	26	23789											
FEM1C	56929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	114878826	114878826	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:114878826G>A	ENST00000274457.3	-	2	926	c.365C>T	c.(364-366)gCt>gTt	p.A122V		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	122					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.A122V(1)		breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GAAACACGCAGCTCGAAGAGG	0.458																																																1	Substitution - Missense(1)	kidney(1)											110	107	108					5																	114878826		2202	4300	6502	SO:0001583	missense	56929				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.365C>T	5.37:g.114878826G>A	ENSP00000274457:p.Ala122Val		B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510614	0.96386	.	.	ENSG00000145780	ENST00000274457	T	0.63744	-0.06	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	N	0.10733	0.035	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.66854	-0.5818	10	0.31617	T	0.26	-16.5832	19.4166	0.94703	0.0:0.0:1.0:0.0	.	122	Q96JP0	FEM1C_HUMAN	V	122	ENSP00000274457:A122V	ENSP00000274457:A122V	A	-	2	0	FEM1C	114906725	1.000000	0.71417	0.520000	0.27837	0.982000	0.71751	9.864000	0.99589	2.588000	0.87417	0.585000	0.79938	GCT		0.458	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		A	114878826	G	A	114878826	3	1	434	1	0	0	0	0	1	0	0	0	5813	971	34	2	1496	2	FEM1C	5	114878826	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08		114878826	66036434	27	23790											
AQPEP	206338	broad.mit.edu;ucsc.edu	37	5	115298600	115298600	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:115298600C>G	ENST00000357872.4	+	1	410	c.286C>G	c.(286-288)Cta>Gta	p.L96V	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		96						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L96V(1)									CTGGGACCAGCTACGCCTGCC	0.701																																																1	Substitution - Missense(1)	kidney(1)											26	31	29					5																	115298600		2184	4272	6456	SO:0001583	missense	206338																														ENST00000357872.4:c.286C>G	5.37:g.115298600C>G	ENSP00000350541:p.Leu96Val		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	6.246	0.413489	0.11812	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.04917	3.53	4.18	2.37	0.29283	.	0.323849	0.21929	N	0.067053	T	0.04497	0.0123	N	0.24115	0.695	0.80722	D	1	P	0.34864	0.473	B	0.32393	0.145	T	0.50841	-0.8780	10	0.44086	T	0.13	.	9.1216	0.36791	0.0:0.8002:0.0:0.1998	.	96	Q6Q4G3	AMPQ_HUMAN	V	96	ENSP00000350541:L96V	ENSP00000350541:L96V	L	+	1	2	AC010282.1	115326499	0.254000	0.23992	0.966000	0.40874	0.065000	0.16274	0.075000	0.14686	0.096000	0.17463	-0.813000	0.03139	CTA		0.701	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			G	115298600	C	G	115298600	3	3	434	1	0	0	0	0	1	0	0	0	834	796	28	4	288	4	AQPEP	5	115298600	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	419774	115298600	65616660	28	23791											
PCDHAC2	56134	broad.mit.edu;ucsc.edu	37	5	140346845	140346845	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:140346845C>A	ENST00000289269.5	+	1	1026	c.494C>A	c.(493-495)gCg>gAg	p.A165E	PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	165	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A165E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGGAGCGCGCTTTCAC	0.597																																					Melanoma(190;638 2083 3390 11909 52360)											1	Substitution - Missense(1)	kidney(1)											27	29	28					5																	140346845		2203	4300	6503	SO:0001583	missense	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.494C>A	5.37:g.140346845C>A	ENSP00000289269:p.Ala165Glu		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981534	0.93044	.	.	ENSG00000243232	ENST00000289269	T	0.51574	0.7	5.43	5.43	0.79202	Cadherin (3);Cadherin-like (1);	0.171066	0.28135	N	0.016476	T	0.62865	0.2463	M	0.72118	2.19	0.49051	D	0.999748	B;P	0.43024	0.333;0.798	B;P	0.50934	0.154;0.654	T	0.65936	-0.6047	10	0.72032	D	0.01	.	19.2427	0.93889	0.0:1.0:0.0:0.0	.	165;165	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	E	165	ENSP00000289269:A165E	ENSP00000289269:A165E	A	+	2	0	PCDHAC2	140327029	0.909000	0.30893	1.000000	0.80357	0.994000	0.84299	3.826000	0.55738	2.555000	0.86185	0.555000	0.69702	GCG		0.597	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		A	140346845	C	A	140346845	3	1	434	1	0	0	0	0	1	0	0	0	11535	768	27	4	496	4	PCDHAC2	5	140346845	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	25048245	140346845	40568415	29	23792											
PCDHGB7	56099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140798869	140798869	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:140798869C>G	ENST00000398594.2	+	1	1443	c.1443C>G	c.(1441-1443)ttC>ttG	p.F481L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	481	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)	p.F481L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCAGACTTCGGGCTCAACG	0.622																																																1	Substitution - Missense(1)	kidney(1)											78	89	85					5																	140798869		2138	4234	6372	SO:0001583	missense	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1443C>G	5.37:g.140798869C>G	ENSP00000381594:p.Phe481Leu		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.381485	0.00205	.	.	ENSG00000254122	ENST00000398594	T	0.44881	0.91	5.19	0.468	0.16732	Cadherin (4);Cadherin-like (1);	0.378301	0.14967	N	0.288054	T	0.07458	0.0188	N	0.00178	-1.915	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.37267	-0.9713	10	0.02654	T	1	.	4.1542	0.10252	0.0705:0.2394:0.3881:0.302	.	481;481	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	L	481	ENSP00000381594:F481L	ENSP00000381594:F481L	F	+	3	2	PCDHGB7	140779053	0.000000	0.05858	0.594000	0.28785	0.169000	0.22640	-1.142000	0.03203	0.075000	0.16796	-0.658000	0.03865	TTC		0.622	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		G	140798869	C	G	140798869	3	3	434	1	0	0	0	0	1	0	0	0	11570	883	31	4	1445	4	PCDHGB7	5	140798869	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	452024	140798869	40116391	30	23793											
PCDHGC5	56097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140870296	140870296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:140870296C>T	ENST00000252087.1	+	1	1489	c.1489C>T	c.(1489-1491)Cag>Tag	p.Q497*	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q497*(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTAGGAAATCAGGTTCAGGG	0.547																																																2	Substitution - Nonsense(2)	kidney(2)											93	98	97					5																	140870296		2203	4300	6503	SO:0001587	stop_gained	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1489C>T	5.37:g.140870296C>T	ENSP00000252087:p.Gln497*		Q9Y5C2	Nonsense_Mutation	SNP	ENST00000252087.1	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898986	0.72754	.	.	ENSG00000240764	ENST00000252087	.	.	.	5.56	5.56	0.83823	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.3878	0.38354	0.0:0.7777:0.1461:0.0763	.	.	.	.	X	497	.	ENSP00000252087:Q497X	Q	+	1	0	PCDHGC5	140850480	0.948000	0.32251	0.996000	0.52242	0.748000	0.42578	1.881000	0.39638	2.890000	0.99128	0.655000	0.94253	CAG		0.547	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		T	140870296	C	T	140870296	4	4	434	1	0	0	0	0	0	1	0	0	11573	827	29	2	1491	2	PCDHGC5	5	140870296	Nonsense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	71427	140870296	40044964	31	23794											
MAML1	9794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179193074	179193074	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:179193074C>G	ENST00000292599.3	+	2	1326	c.1063C>G	c.(1063-1065)Cgg>Ggg	p.R355G	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.R355G(1)|p.R392G(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCAGCCCCGGGCGGACAA	0.622																																																2	Substitution - Missense(2)	kidney(2)											35	37	36					5																	179193074		2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1063C>G	5.37:g.179193074C>G	ENSP00000292599:p.Arg355Gly			Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	0.282	-0.985879	0.02180	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.22945	1.93	4.93	3.13	0.36017	.	0.449428	0.22695	N	0.056772	T	0.07143	0.0181	N	0.00926	-1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.36601	-0.9741	10	0.16896	T	0.51	-1.2117	6.3884	0.21574	0.2417:0.1336:0.6247:0.0	.	392;355	Q59GH4;Q92585	.;MAML1_HUMAN	G	355;392	ENSP00000292599:R355G	ENSP00000292599:R355G	R	+	1	2	MAML1	179125680	0.034000	0.19679	0.057000	0.19452	0.819000	0.46315	0.166000	0.16583	0.143000	0.18926	-0.371000	0.07208	CGG		0.622	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		G	179193074	C	G	179193074	3	3	434	1	0	0	0	0	1	0	0	0	9207	643	23	4	1069	4	MAML1	5	179193074	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	38322778	179193074	1722186	32	23795											
CDYL	9425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	4892566	4892566	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr6:4892566G>A	ENST00000328908.5	+	4	937	c.806G>A	c.(805-807)gGc>gAc	p.G269D	CDYL_ENST00000343762.5_Missense_Mutation_p.G83D|CDYL_ENST00000449732.2_Missense_Mutation_p.G83D|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Missense_Mutation_p.G215D			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	269	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.G269D(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAGGTGCCCGGCCCTGTGACT	0.642																																																1	Substitution - Missense(1)	kidney(1)											41	48	46					6																	4892566		2203	4300	6503	SO:0001583	missense	9425			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.806G>A	6.37:g.4892566G>A	ENSP00000330512:p.Gly269Asp		A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37		.	.	.	.	.	.	.	.	.	.	G	3.406	-0.121193	0.06838	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.56444	0.9;0.52;0.46;0.46	5.79	3.81	0.43845	.	0.403908	0.27725	N	0.018112	T	0.17408	0.0418	L	0.31065	0.9	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.004	T	0.10359	-1.0633	9	.	.	.	.	7.8175	0.29269	0.0:0.1186:0.529:0.3523	.	215;269	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	D	269;215;83;83	ENSP00000330512:G269D;ENSP00000380718:G215D;ENSP00000394076:G83D;ENSP00000340908:G83D	.	G	+	2	0	CDYL	4837565	1.000000	0.71417	0.194000	0.23346	0.484000	0.33280	2.623000	0.46435	1.406000	0.46857	0.650000	0.86243	GGC		0.642	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		A	4892566	G	A	4892566	3	1	434	1	0	0	0	0	1	0	0	0	3187	1203	42	2	650	2	CDYL	6	4892566	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08		4892566	166222501	33	23796											
HIVEP1	3096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	12164030	12164030	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr6:12164030T>C	ENST00000379388.2	+	9	7825	c.7493T>C	c.(7492-7494)aTt>aCt	p.I2498T	HIVEP1_ENST00000541134.1_Missense_Mutation_p.I363T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I2498T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACCGTCAATATTGTAGGCCTA	0.522																																																1	Substitution - Missense(1)	kidney(1)											69	74	72					6																	12164030		1971	4161	6132	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7493T>C	6.37:g.12164030T>C	ENSP00000368698:p.Ile2498Thr		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055151	0.55325	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.37235	2.71;1.21	5.92	5.92	0.95590	.	0.272253	0.20242	N	0.096271	T	0.41673	0.1169	M	0.66939	2.045	0.42333	D	0.992307	D	0.59357	0.985	P	0.52159	0.691	T	0.44997	-0.9291	10	0.87932	D	0	-14.7357	16.3662	0.83325	0.0:0.0:0.0:1.0	.	2498	P15822	ZEP1_HUMAN	T	2498;363;480	ENSP00000368698:I2498T;ENSP00000445617:I363T	ENSP00000368698:I2498T	I	+	2	0	HIVEP1	12272016	1.000000	0.71417	0.013000	0.15412	0.061000	0.15899	7.342000	0.79310	2.274000	0.75844	0.533000	0.62120	ATT		0.522	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		C	12164030	T	C	12164030	3	2	434	1	0	0	0	0	1	0	0	0	7188	1493	52	3	7523	3	HIVEP1	6	12164030	Missense_Mutation	SNP	T	TCGA-BP-5185-01A-01D-1429-08	7271464	12164030	158951037	34	23797											
LRP11	84918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150164137	150164138	+	Missense_Mutation	DNP	CG	CG	TA	rs374603588		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr6:150164137_150164138CG>TA	ENST00000239367.2	-	3	899_900	c.894_895CG>TA	c.(892-897)cgCGca>cgTAca	p.A299T	LRP11_ENST00000367368.2_Missense_Mutation_p.A299T|LRP11_ENST00000546019.1_Missense_Mutation_p.A44T	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	299	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)		p.A299T(3)|p.R298R(1)		cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GAGTAGGCTGCGCGAAGCACTG	0.589																																																4	Substitution - Missense(3)|Substitution - coding silent(1)	kidney(3)|large_intestine(1)																																								SO:0001583	missense	84918			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.894_895delinsTA	6.37:g.150164137_150164138delinsTA	ENSP00000239367:p.Ala299Thr		Q5VYC0|Q96SN6	Missense_Mutation|Silent	SNP	ENST00000239367.2	37	CCDS5220.1																																																																																				0.589	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		TA	150164138	CG	TA	150164137	3	4	434	1	0	0	0	0	1	0	0	0	8955	768	27	1	627	1	LRP11	6	150164137	Missense_Mutation	DNP	CG	TCGA-BP-5185-01A-01D-1429-08	138000107	150164137	20950930	35	23798											
TULP4	56995	broad.mit.edu	37	6	158923758	158923758	+	Silent	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr6:158923758G>C	ENST00000367097.3	+	13	4420	c.3063G>C	c.(3061-3063)ggG>ggC	p.G1021G	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1021					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G1021G(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGCCCGGGGGGGTGGTGACAC	0.726																																																1	Substitution - coding silent(1)	kidney(1)											6	8	8					6																	158923758		2128	4185	6313	SO:0001819	synonymous_variant	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3063G>C	6.37:g.158923758G>C			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	CCDS34561.1																																																																																				0.726	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		C	158923758	G	C	158923758	2	2	434	1	0	0	0	0	0	0	0	1	16781	1219	43	4		4	TULP4	6	158923758	Silent	SNP	G	TCGA-BP-5185-01A-01D-1429-08	8759621	158923758	12191309	36	23799											
FSCN1	6624	broad.mit.edu;hgsc.bcm.edu	37	7	5632742	5632742	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr7:5632742G>C	ENST00000382361.3	+	1	289	c.175G>C	c.(175-177)Gcc>Ccc	p.A59P	FSCN1_ENST00000340250.6_Intron	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	59					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)	p.A59P(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GGGCAGCGCGGCCGTGTGCCT	0.701																																																1	Substitution - Missense(1)	kidney(1)											9	9	9					7																	5632742		2141	4199	6340	SO:0001583	missense	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.175G>C	7.37:g.5632742G>C	ENSP00000371798:p.Ala59Pro		A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792352	0.70452	.	.	ENSG00000075618	ENST00000382361	T	0.23950	1.88	3.37	3.37	0.38596	Fascin domain (1);Actin cross-linking (1);	0.151741	0.43747	D	0.000529	T	0.44180	0.1281	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.43750	-0.9372	10	0.54805	T	0.06	-3.9901	12.2737	0.54721	0.0:0.0:1.0:0.0	.	59	Q16658	FSCN1_HUMAN	P	59	ENSP00000371798:A59P	ENSP00000371798:A59P	A	+	1	0	FSCN1	5599268	0.849000	0.29639	0.998000	0.56505	0.988000	0.76386	3.352000	0.52239	1.729000	0.51567	0.462000	0.41574	GCC		0.701	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		C	5632742	G	C	5632742	3	2	434	1	0	0	0	0	1	0	0	0	6069	1203	42	4	177	4	FSCN1	7	5632742	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08		5632742	153505921	37	23800											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82544733	82544733	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr7:82544733T>C	ENST00000333891.9	-	7	12906	c.12569A>G	c.(12568-12570)aAg>aGg	p.K4190R	PCLO_ENST00000423517.2_Missense_Mutation_p.K4190R|PCLO_ENST00000437081.1_Missense_Mutation_p.K910R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K4190R(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCTTATGCTTTGACTGCTT	0.353																																																2	Substitution - Missense(2)	kidney(2)											81	75	77					7																	82544733		1867	4107	5974	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12569A>G	7.37:g.82544733T>C	ENSP00000334319:p.Lys4190Arg			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543898	0.65198	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.49720	0.77;0.8	5.79	5.79	0.91817	.	.	.	.	.	T	0.69513	0.3119	M	0.74647	2.275	0.58432	D	0.999992	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.985;0.998;0.998	T	0.73335	-0.4015	9	0.87932	D	0	.	16.1303	0.81428	0.0:0.0:0.0:1.0	.	4121;4190;4190	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	R	4190;4190;910	ENSP00000334319:K4190R;ENSP00000388393:K4190R	ENSP00000334319:K4190R	K	-	2	0	PCLO	82382669	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.711000	0.84669	2.216000	0.71823	0.377000	0.23210	AAG		0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		C	82544733	T	C	82544733	3	2	434	1	0	0	0	0	1	0	0	0	11585	1609	56	3	2952	3	PCLO	7	82544733	Missense_Mutation	SNP	T	TCGA-BP-5185-01A-01D-1429-08	76911991	82544733	76593930	38	23801											
CALU	813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	128407619	128407619	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr7:128407619G>T	ENST00000249364.4	+	6	855	c.753G>T	c.(751-753)aaG>aaT	p.K251N	CALU_ENST00000535623.1_3'UTR|CALU_ENST00000535011.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.K259N|CALU_ENST00000538546.1_Missense_Mutation_p.K100N|CALU_ENST00000542996.2_Missense_Mutation_p.K259N|CALU_ENST00000449187.2_Missense_Mutation_p.K251N	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	251	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)	p.K251N(1)|p.K259N(1)		kidney(2)|large_intestine(3)|lung(5)	10						AGATGGACAAGGAAGAGACCA	0.483																																																2	Substitution - Missense(2)	kidney(2)											171	158	162					7																	128407619		2203	4300	6503	SO:0001583	missense	813			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.753G>T	7.37:g.128407619G>T	ENSP00000249364:p.Lys251Asn		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.00|13.00	2.105538|2.105538	0.37145|0.37145	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000493278|ENST00000542996;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257	.|T;T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47;0.47	5.44|5.44	3.31|3.31	0.37934|0.37934	.|EF-hand-like domain (1);	.|0.046101	.|0.85682	.|D	.|0.000000	.|T	.|0.55081	.|0.1898	M|M	0.65498|0.65498	2.005|2.005	0.52099|0.52099	D|D	0.999948|0.999948	.|D;B	.|0.54964	.|0.969;0.009	.|P;B	.|0.52856	.|0.711;0.005	.|T	.|0.52624	.|-0.8551	.|10	.|0.18710	.|T	.|0.47	-10.6168|-10.6168	7.6485|7.6485	0.28334|0.28334	0.2821:0.0:0.7179:0.0|0.2821:0.0:0.7179:0.0	.|.	.|259;251	.|D6QS48;O43852	.|.;CALU_HUMAN	X|N	83|259;100;251;251;259	.|ENSP00000438248:K259N;ENSP00000438994:K100N;ENSP00000249364:K251N;ENSP00000408838:K251N;ENSP00000420381:K259N	.|ENSP00000249364:K251N	G|K	+|+	1|3	0|2	CALU|CALU	128194855|128194855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.892000|0.892000	0.28322|0.28322	1.312000|1.312000	0.45043|0.45043	-0.251000|-0.251000	0.11542|0.11542	GGA|AAG		0.483	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		T	128407619	G	T	128407619	3	4	434	1	0	0	0	0	1	0	0	0	2596	991	35	4	969	4	CALU	7	128407619	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	45862886	128407619	30731044	39	23802											
CPA4	51200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129938646	129938646	+	Silent	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr7:129938646A>T	ENST00000222482.4	+	2	157	c.129A>T	c.(127-129)ctA>ctT	p.L43L	CPA4_ENST00000493259.1_Intron|CPA4_ENST00000445470.2_Silent_p.L43L	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	43					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L43L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGAGTCAACTAGTGAATTCAA	0.388																																																1	Substitution - coding silent(1)	kidney(1)											147	145	146					7																	129938646		2203	4300	6503	SO:0001819	synonymous_variant	51200			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.129A>T	7.37:g.129938646A>T			B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	37	CCDS5818.1																																																																																				0.388	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		T	129938646	A	T	129938646	2	4	434	1	0	0	0	0	0	0	0	1	3794	407	15	5		5	CPA4	7	129938646	Silent	SNP	A	TCGA-BP-5185-01A-01D-1429-08	1531027	129938646	29200017	40	23803											
ZC3HAV1	56829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138794026	138794026	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr7:138794026C>T	ENST00000242351.5	-	1	368	c.52G>A	c.(52-54)Ggg>Agg	p.G18R	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.G18R|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.G18R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	18	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.G18R(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATGCGGCCCCCGTGGGCGCAC	0.706																																																1	Substitution - Missense(1)	kidney(1)											12	16	15					7																	138794026		2167	4276	6443	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.52G>A	7.37:g.138794026C>T	ENSP00000242351:p.Gly18Arg		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466459	0.43839	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.37752	1.18;1.18;1.18	4.52	1.73	0.24493	.	0.000000	0.49916	D	0.000138	T	0.46502	0.1396	M	0.80422	2.495	0.35849	D	0.826636	P;D	0.62365	0.489;0.991	B;P	0.52424	0.138;0.698	T	0.55872	-0.8072	10	0.56958	D	0.05	.	6.888	0.24214	0.0:0.7046:0.0:0.2954	.	18;18	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	R	18	ENSP00000242351:G18R;ENSP00000418385:G18R;ENSP00000419855:G18R	ENSP00000242351:G18R	G	-	1	0	ZC3HAV1	138444566	0.759000	0.28416	0.901000	0.35422	0.759000	0.43091	1.242000	0.32755	0.257000	0.21650	-0.424000	0.05967	GGG		0.706	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		T	138794026	C	T	138794026	3	4	434	1	0	0	0	0	1	0	0	0	17580	652	23	1	2712	1	ZC3HAV1	7	138794026	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	8855380	138794026	20344637	41	23804											
INSL6	11172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	5185530	5185530	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr9:5185530C>T	ENST00000381641.3	-	1	138	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	25					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.D25N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CTGCTGATGTCGCTCAGTTCA	0.587																																																1	Substitution - Missense(1)	kidney(1)											49	45	46					9																	5185530		2203	4300	6503	SO:0001583	missense	11172			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"relaxin/insulin-like factor 1"	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.73G>A	9.37:g.5185530C>T	ENSP00000371054:p.Asp25Asn		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682548	0.47991	.	.	ENSG00000120210	ENST00000381641	T	0.49720	0.77	4.25	-0.261	0.12963	Insulin-like (2);	1.736560	0.03111	N	0.162492	T	0.36441	0.0967	L	0.56769	1.78	0.09310	N	1	P	0.35628	0.513	B	0.23150	0.044	T	0.23154	-1.0196	10	0.49607	T	0.09	8.1109	0.975	0.01423	0.1767:0.4213:0.1723:0.2297	.	25	Q9Y581	INSL6_HUMAN	N	25	ENSP00000371054:D25N	ENSP00000371054:D25N	D	-	1	0	INSL6	5175530	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.983000	0.03759	-0.024000	0.13941	0.650000	0.86243	GAC		0.587	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		T	5185530	C	T	5185530	3	4	434	1	0	0	0	0	1	0	0	0	7772	884	31	1	576	1	INSL6	9	5185530	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08		5185530	136027901	42	23805											
DDX58	23586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32488009	32488009	+	Silent	SNP	C	C	T	rs151092988		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr9:32488009C>T	ENST00000379883.2	-	8	1303	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	DDX58_ENST00000379882.1_Silent_p.P337P|DDX58_ENST00000542096.1_Silent_p.P311P|DDX58_ENST00000379868.1_Silent_p.P179P|DDX58_ENST00000545044.1_Silent_p.P179P	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	382	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.P382P(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TCATATTGTACGGGTGTTGTT	0.393													c|||	1	0.000199681	0.0	0.0	5008	,	,		20768	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	165	169	167		1146	-3.6	1	9	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous	DDX58	NM_014314.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		382/926	32488009	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1146G>A	9.37:g.32488009C>T			A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	CCDS6526.1																																																																																				0.393	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		T	32488009	C	T	32488009	2	4	434	1	0	0	0	0	0	0	0	1	4377	523	19	1		1	DDX58	9	32488009	Silent	SNP	C	TCGA-BP-5185-01A-01D-1429-08	27302479	32488009	108725422	43	23806											
ZBTB43	23099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	129595818	129595818	+	Frame_Shift_Del	DEL	G	G	-	rs141489057		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr9:129595818delG	ENST00000373464.4	+	3	1294	c.1030delG	c.(1030-1032)gcafs	p.A345fs	ZBTB43_ENST00000449886.1_Frame_Shift_Del_p.A345fs|ZBTB43_ENST00000373457.1_Frame_Shift_Del_p.A345fs	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGCTGCCCTCGCAGCAGGTTA	0.468																																																0													74	81	78					9																	129595818		2203	4300	6503	SO:0001589	frameshift_variant	23099			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	17908	protein-coding gene	gene with protein product			"zinc finger protein 297B"	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1030delG	9.37:g.129595818delG	ENSP00000362563:p.Ala345fs		Q5JU96	Frame_Shift_Del	DEL	ENST00000373464.4	37	CCDS6867.1																																																																																				0.468	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		-	129595818	G	-	129595818	7	5	434	1	0	1	0	1	0	0	0	0	17549	1087	38	0	1032	0	ZBTB43	9	129595818	Frame_Shift_Del	DEL	G	TCGA-BP-5185-01A-01D-1429-08	97107809	129595818	11617613	44	23807											
QSOX2	169714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139118696	139118696	+	Missense_Mutation	SNP	G	G	A	rs376604129		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr9:139118696G>A	ENST00000358701.5	-	2	390	c.353C>T	c.(352-354)gCa>gTa	p.A118V		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	118	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.A118V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GTCCAGAGCTGCGACGCGAAT	0.597											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)						G	VAL/ALA	0,4406		0,0,2203	226	187	201		353	3.9	0.1	9		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	QSOX2	NM_181701.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	118/699	139118696	1,13005	2203	4300	6503	SO:0001583	missense	169714			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.353C>T	9.37:g.139118696G>A	ENSP00000351536:p.Ala118Val	1646	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692252	0.48202	0.0	1.16E-4	ENSG00000165661	ENST00000358701	T	0.15834	2.39	4.91	3.94	0.45596	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.210296	0.38548	N	0.001655	T	0.15219	0.0367	L	0.41906	1.305	0.30053	N	0.811592	B	0.33940	0.433	B	0.34093	0.175	T	0.08391	-1.0724	10	0.56958	D	0.05	-20.4809	12.2031	0.54337	0.0:0.3379:0.6621:0.0	.	118	Q6ZRP7	QSOX2_HUMAN	V	118	ENSP00000351536:A118V	ENSP00000351536:A118V	A	-	2	0	QSOX2	138258517	0.846000	0.29590	0.099000	0.21106	0.003000	0.03518	1.955000	0.40372	2.433000	0.82419	0.557000	0.71058	GCA		0.597	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		A	139118696	G	A	139118696	3	1	434	1	0	0	0	0	1	0	0	0	12890	1319	46	2	1787	2	QSOX2	9	139118696	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	9522878	139118696	2094735	45	23808											
ARMC4	55130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	28270411	28270411	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr10:28270411T>G	ENST00000305242.5	-	7	1012	c.920A>C	c.(919-921)gAa>gCa	p.E307A	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.E164A|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	307					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.E307A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGACATATTTTCTGAAAATTT	0.284																																																1	Substitution - Missense(1)	kidney(1)											58	63	62					10																	28270411		2201	4292	6493	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.920A>C	10.37:g.28270411T>G	ENSP00000306410:p.Glu307Ala		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226428	0.39300	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.53640	1.3;0.63;0.61	5.01	2.6	0.31112	.	0.181563	0.45126	D	0.000389	T	0.48333	0.1494	M	0.78637	2.42	0.41630	D	0.989012	P	0.51057	0.941	B	0.43478	0.421	T	0.54159	-0.8335	10	0.59425	D	0.04	-8.6568	9.0266	0.36234	0.0:0.1704:0.0:0.8296	.	307	Q5T2S8	ARMC4_HUMAN	A	307;201;164	ENSP00000306410:E307A;ENSP00000398155:E201A;ENSP00000239715:E164A	ENSP00000239715:E164A	E	-	2	0	ARMC4	28310417	0.976000	0.34144	1.000000	0.80357	0.564000	0.35744	1.667000	0.37471	0.855000	0.35359	0.533000	0.62120	GAA		0.284	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		G	28270411	T	G	28270411	3	3	434	1	0	0	0	0	1	0	0	0	953	1783	62	5	2270	5	ARMC4	10	28270411	Missense_Mutation	SNP	T	TCGA-BP-5185-01A-01D-1429-08		28270411	107264336	46	23809											
GBF1	8729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	104111114	104111114	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr10:104111114C>G	ENST00000369983.3	+	5	657	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	133					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L133V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGAAGTTGTCCTGATGAAAAT	0.537																																																1	Substitution - Missense(1)	kidney(1)											94	81	85					10																	104111114		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.397C>G	10.37:g.104111114C>G	ENSP00000359000:p.Leu133Val		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127875	0.56721	.	.	ENSG00000107862	ENST00000369983	T	0.71579	-0.58	5.98	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.84211	0.5422	M	0.90595	3.13	0.53688	D	0.999974	D;D;D;D	0.76494	0.997;0.995;0.999;0.992	D;D;D;P	0.80764	0.938;0.973;0.994;0.901	D	0.85142	0.0981	10	0.56958	D	0.05	-7.1868	7.0357	0.24993	0.0:0.7173:0.0:0.2827	.	133;133;133;133	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	V	133	ENSP00000359000:L133V	ENSP00000359000:L133V	L	+	1	2	GBF1	104101104	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.570000	0.36439	1.549000	0.49425	0.591000	0.81541	CTG		0.537	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			G	104111114	C	G	104111114	3	3	434	1	0	0	0	0	1	0	0	0	6273	680	24	4	411	4	GBF1	10	104111114	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	75840703	104111114	31423633	47	23810											
OR51Q1	390061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5443672	5443672	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:5443672C>G	ENST00000300778.4	+	1	332	c.242C>G	c.(241-243)cCc>cGc	p.P81R	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P81R(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCACCCTACCCACAGTCATG	0.517																																																1	Substitution - Missense(1)	kidney(1)											172	155	161					11																	5443672		2201	4297	6498	SO:0001583	missense	390061			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.242C>G	11.37:g.5443672C>G	ENSP00000300778:p.Pro81Arg		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202889	0.79127	.	.	ENSG00000167360	ENST00000300778	T	0.25749	1.78	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.71099	0.3300	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84628	0.0688	10	0.72032	D	0.01	.	17.191	0.86879	0.0:1.0:0.0:0.0	.	81	Q8NH59	O51Q1_HUMAN	R	81	ENSP00000300778:P81R	ENSP00000300778:P81R	P	+	2	0	OR51Q1	5400248	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.948000	0.75965	2.641000	0.89580	0.380000	0.24917	CCC		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		G	5443672	C	G	5443672	3	3	434	1	0	0	0	0	1	0	0	0	11106	623	22	4	244	4	OR51Q1	11	5443672	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08		5443672	129562844	48	23811											
DNHD1	144132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6519865	6519865	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:6519865G>C	ENST00000527990.2	+	1	420	c.420G>C	c.(418-420)ttG>ttC	p.L140F	DNHD1_ENST00000354685.3_Missense_Mutation_p.L140F|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000254579.6_Missense_Mutation_p.L140F			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	140					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.L140F(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACAGCTCTTTGTTAGACAGTG	0.602																																																2	Substitution - Missense(2)	kidney(2)											144	146	145					11																	6519865		2201	4296	6497	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.420G>C	11.37:g.6519865G>C	ENSP00000436180:p.Leu140Phe		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594148	0.86953	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.33865	1.39;2.34;1.39	5.48	5.48	0.80851	.	0.130684	0.35708	N	0.003025	T	0.48537	0.1505	L	0.32530	0.975	0.36529	D	0.870607	D;D	0.69078	0.997;0.996	P;D	0.66497	0.888;0.944	T	0.55921	-0.8064	10	0.59425	D	0.04	.	16.268	0.82600	0.0:0.0:1.0:0.0	.	140;140	Q96M86;Q96M86-4	DNHD1_HUMAN;.	F	140	ENSP00000254579:L140F;ENSP00000346716:L140F;ENSP00000436180:L140F	ENSP00000254579:L140F	L	+	3	2	DNHD1	6476441	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.361000	0.52306	2.568000	0.86640	0.563000	0.77884	TTG		0.602	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6519865	G	C	6519865	3	2	434	1	0	0	0	0	1	0	0	0	4670	1368	48	4	422	4	DNHD1	11	6519865	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	1076193	6519865	128486651	49	23812											
USH1C	10083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	17531374	17531374	+	Intron	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:17531374C>T	ENST00000318024.4	-	15	1393				USH1C_ENST00000005226.7_Silent_p.G514G|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.G514G(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAGGCGGGGGCCCTGTGGTCA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											22	29	27					11																	17531374		2198	4287	6485	SO:0001627	intron_variant	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+7573G>A	11.37:g.17531374C>T			A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	CCDS31438.1																																																																																				0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		T	17531374	C	T	17531374	1	4	434	0	1	0	0	0	0	0	0	0	17039	726	26	2		2	USH1C	11	17531374	Intron	SNP	C	TCGA-BP-5185-01A-01D-1429-08	11011509	17531374	117475142	50	23813											
NUP160	23279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47833875	47833875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:47833875delT	ENST00000378460.2	-	16	2105	c.2059delA	c.(2059-2061)atgfs	p.M687fs	NUP160_ENST00000528501.1_Frame_Shift_Del_p.M251fs|NUP160_ENST00000531016.1_5'Flank|NUP160_ENST00000528071.1_Frame_Shift_Del_p.M573fs|NUP160_ENST00000530326.1_Frame_Shift_Del_p.M573fs	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	687					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCCTTTTCCATTTCCACTTCT	0.358																																																0													227	207	213					11																	47833875		2201	4298	6499	SO:0001589	frameshift_variant	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2059delA	11.37:g.47833875delT	ENSP00000367721:p.Met687fs		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Frame_Shift_Del	DEL	ENST00000378460.2	37	CCDS31484.1																																																																																				0.358	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		-	47833875	T	-	47833875	7	5	434	1	0	1	0	1	0	0	0	0	10759	1493	52	0	2335	0	NUP160	11	47833875	Frame_Shift_Del	DEL	T	TCGA-BP-5185-01A-01D-1429-08	30302501	47833875	87172641	51	23814											
MYO7A	4647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	76893001	76893001	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:76893001T>G	ENST00000409709.3	+	24	3181	c.2909T>G	c.(2908-2910)cTg>cGg	p.L970R	MYO7A_ENST00000409619.2_Missense_Mutation_p.L959R|MYO7A_ENST00000458637.2_Missense_Mutation_p.L970R|MYO7A_ENST00000409893.1_Missense_Mutation_p.L970R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	970					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.L970R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTCAGGACCTGGAGCGAGGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											47	56	53					11																	76893001		2075	4195	6270	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2909T>G	11.37:g.76893001T>G	ENSP00000386331:p.Leu970Arg		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.253073	0.80135	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.89415	-2.47;-2.51;-2.47;-2.5;-2.44	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000007	D	0.94761	0.8309	M	0.84585	2.705	0.80722	D	1	D;D;D;P	0.89917	1.0;0.999;1.0;0.782	D;D;D;B	0.85130	0.99;0.982;0.997;0.346	D	0.95182	0.8300	10	0.56958	D	0.05	.	15.3587	0.74453	0.0:0.0:0.0:1.0	.	970;959;970;970	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	R	970;970;970;959;181;969;969;846;969;151	ENSP00000386331:L970R;ENSP00000386689:L970R;ENSP00000392185:L970R;ENSP00000386635:L959R;ENSP00000417017:L151R	ENSP00000345075:L846R	L	+	2	0	MYO7A	76570649	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.636000	0.83301	2.028000	0.59812	0.448000	0.29417	CTG		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		G	76893001	T	G	76893001	3	3	434	1	0	0	0	0	1	0	0	0	10084	1580	55	5	2999	5	MYO7A	11	76893001	Missense_Mutation	SNP	T	TCGA-BP-5185-01A-01D-1429-08	29059126	76893001	58113515	52	23815											
ARHGAP20	57569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	110451607	110451607	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:110451607G>T	ENST00000260283.4	-	16	2347	c.2063C>A	c.(2062-2064)aCa>aAa	p.T688K	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.T662K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.T662K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.T665K|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.T231K|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.T652K|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.T652K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	688					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.T688K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGCTGCAGCTGTGGACAGGTA	0.537																																																1	Substitution - Missense(1)	kidney(1)											68	65	66					11																	110451607		2201	4298	6499	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2063C>A	11.37:g.110451607G>T	ENSP00000260283:p.Thr688Lys		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052378	0.36181	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.10192	2.9;2.9;2.93;2.9;2.9;2.9;2.9	5.39	2.48	0.30137	.	0.455576	0.22182	N	0.063493	T	0.12518	0.0304	L	0.51422	1.61	0.09310	N	1	P;P;D	0.53462	0.928;0.933;0.96	P;B;P	0.47573	0.55;0.299;0.494	T	0.17258	-1.0375	10	0.19590	T	0.45	.	9.5061	0.39048	0.2174:0.0:0.7826:0.0	.	662;688;665	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	K	688;662;231;665;652;662;652	ENSP00000260283:T688K;ENSP00000349660:T662K;ENSP00000437905:T231K;ENSP00000432076:T665K;ENSP00000436319:T652K;ENSP00000436522:T662K;ENSP00000431399:T652K	ENSP00000260283:T688K	T	-	2	0	ARHGAP20	109956817	0.881000	0.30235	0.032000	0.17829	0.842000	0.47809	1.993000	0.40747	0.257000	0.21650	0.655000	0.94253	ACA		0.537	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		T	110451607	G	T	110451607	3	4	434	1	0	0	0	0	1	0	0	0	870	1377	48	4	1516	4	ARHGAP20	11	110451607	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	33558606	110451607	24554909	53	23816											
FOXR1	283150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118849549	118849549	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:118849549C>T	ENST00000317011.3	+	2	344	c.119C>T	c.(118-120)cCc>cTc	p.P40L		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	40					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P40L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GAGAAAAAACCCAACCCTGAT	0.473																																																1	Substitution - Missense(1)	kidney(1)											127	123	125					11																	118849549		2200	4295	6495	SO:0001583	missense	283150			AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"Forkhead boxes"	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.119C>T	11.37:g.118849549C>T	ENSP00000314806:p.Pro40Leu		B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	CCDS31688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.07|13.07	2.128548|2.128548	0.37533|0.37533	.|.	.|.	ENSG00000176302|ENSG00000176302	ENST00000317011|ENST00000533282	D|.	0.94931|.	-3.56|.	4.55|4.55	0.577|0.577	0.17385|0.17385	.|.	0.232101|0.232101	0.23949|0.23949	N|N	0.042974|0.042974	T|T	0.37758|0.37758	0.1015|0.1015	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.20371|0.20371	-1.0277|-1.0277	10|7	0.51188|0.16420	T|T	0.08|0.52	.|.	3.5447|3.5447	0.07824|0.07824	0.1749:0.5439:0.0:0.2812|0.1749:0.5439:0.0:0.2812	.|.	40|.	Q6PIV2|.	FOXR1_HUMAN|.	L|S	40|21	ENSP00000314806:P40L|.	ENSP00000314806:P40L|ENSP00000432358:P21S	P|P	+|+	2|1	0|0	FOXR1|FOXR1	118354759|118354759	0.073000|0.073000	0.21202|0.21202	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	1.700000|1.700000	0.37815|0.37815	0.125000|0.125000	0.18397|0.18397	-0.136000|-0.136000	0.14681|0.14681	CCC|CCA		0.473	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		T	118849549	C	T	118849549	3	4	434	1	0	0	0	0	1	0	0	0	6033	623	22	2	125	2	FOXR1	11	118849549	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	8397942	118849549	16156967	54	23817	180	2									
FOXR1	283150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118849551	118849551	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:118849551A>T	ENST00000317011.3	+	2	346	c.121A>T	c.(121-123)Aac>Tac	p.N41Y		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	41					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N41Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GAAAAAACCCAACCCTGATAA	0.478																																																1	Substitution - Missense(1)	kidney(1)											126	122	124					11																	118849551		2200	4295	6495	SO:0001583	missense	283150			AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"Forkhead boxes"	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.121A>T	11.37:g.118849551A>T	ENSP00000314806:p.Asn41Tyr		B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	A	9.832	1.188690	0.21954	.	.	ENSG00000176302	ENST00000317011	D	0.94931	-3.56	4.55	0.917	0.19380	.	0.435145	0.18996	N	0.125469	D	0.89382	0.6699	L	0.60455	1.87	0.09310	N	1	B	0.34015	0.435	B	0.31290	0.127	T	0.81854	-0.0741	10	0.56958	D	0.05	.	1.4126	0.02295	0.5243:0.2078:0.0992:0.1686	.	41	Q6PIV2	FOXR1_HUMAN	Y	41	ENSP00000314806:N41Y	ENSP00000314806:N41Y	N	+	1	0	FOXR1	118354761	0.050000	0.20438	0.000000	0.03702	0.001000	0.01503	0.830000	0.27462	0.140000	0.18849	0.533000	0.62120	AAC		0.478	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		T	118849551	A	T	118849551	3	4	434	1	0	0	0	0	1	0	0	0	6033	130	5	5	127	5	FOXR1	11	118849551	Missense_Mutation	SNP	A	TCGA-BP-5185-01A-01D-1429-08	2	118849551	16156965	55	23818	180	2									
TNFRSF1A	7132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6440021	6440021	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr12:6440021G>A	ENST00000162749.2	-	6	922	c.623C>T	c.(622-624)tCa>tTa	p.S208L	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.S165L|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	208					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.S208L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CTCCTCACCTGAGTCCTCAGT	0.562																																																1	Substitution - Missense(1)	kidney(1)											98	79	86					12																	6440021		2203	4300	6503	SO:0001583	missense	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.623C>T	12.37:g.6440021G>A	ENSP00000162749:p.Ser208Leu		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006293	0.35415	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372	D;D;D	0.95788	-3.13;-3.02;-3.81	5.19	5.19	0.71726	.	2.365310	0.02302	N	0.071306	D	0.93210	0.7837	L	0.36672	1.1	0.80722	D	1	B;B	0.33238	0.403;0.294	B;B	0.28232	0.087;0.026	T	0.74928	-0.3497	10	0.30854	T	0.27	-16.116	14.2483	0.66001	0.0:0.0:1.0:0.0	.	165;208	F5H061;P19438	.;TNR1A_HUMAN	L	208;165;208	ENSP00000162749:S208L;ENSP00000438343:S165L;ENSP00000442059:S208L	ENSP00000162749:S208L	S	-	2	0	TNFRSF1A	6310282	0.995000	0.38212	0.944000	0.38274	0.074000	0.17049	2.881000	0.48538	2.426000	0.82243	0.561000	0.74099	TCA		0.562	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		A	6440021	G	A	6440021	3	1	434	1	0	0	0	0	1	0	0	0	16298	1294	45	2	764	2	TNFRSF1A	12	6440021	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08		6440021	127411874	56	23819											
KLRC2	3822	broad.mit.edu;hgsc.bcm.edu	37	12	10584769	10584769	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr12:10584769C>G	ENST00000381902.2	-	5	526	c.520G>C	c.(520-522)Ggt>Cgt	p.G174R	NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Missense_Mutation_p.G115R|KLRC2_ENST00000381901.1_Missense_Mutation_p.G174R	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	174	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.G174R(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CGAAACACACCAATCCATGAG	0.289																																																1	Substitution - Missense(1)	kidney(1)											43	42	42					12																	10584769		2055	4143	6198	SO:0001583	missense	3822			X54869	CCDS31745.1	12p13	2009-12-03				ENSG00000205809		"Killer cell lectin-like receptors", "CD molecules"	6375	protein-coding gene	gene with protein product		602891				9598306	Standard	NM_002260		Approved	NKG2-C, CD159c		P26717		ENST00000381902.2:c.520G>C	12.37:g.10584769C>G	ENSP00000371327:p.Gly174Arg		O43802|Q52M74|Q9NR42	Missense_Mutation	SNP	ENST00000381902.2	37	CCDS31745.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.74|11.74	1.728625|1.728625	0.30593|0.30593	.|.	.|.	ENSG00000205809|ENSG00000205809	ENST00000381902;ENST00000381901;ENST00000396433;ENST00000536833|ENST00000537017	T;T;T|.	0.67865|.	-0.29;-0.29;-0.29|.	2.53|2.53	1.61|1.61	0.23674|0.23674	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	0.447059|.	0.16650|.	N|.	0.205264|.	T|T	0.73830|0.73830	0.3637|0.3637	H|H	0.97158|0.97158	3.95|3.95	0.25161|0.25161	N|N	0.990358|0.990358	D;D|.	0.89917|.	1.0;0.989|.	D;P|.	0.91635|.	0.999;0.87|.	T|T	0.64424|0.64424	-0.6411|-0.6411	10|5	0.87932|.	D|.	0|.	.|.	5.7965|5.7965	0.18389|0.18389	0.0:0.8264:0.0:0.1736|0.0:0.8264:0.0:0.1736	.|.	160;174|.	Q3KQS7;P26717|.	.;NKG2C_HUMAN|.	R|F	174;174;67;115|51	ENSP00000371327:G174R;ENSP00000371326:G174R;ENSP00000444754:G115R|.	ENSP00000371326:G174R|.	G|L	-|-	1|3	0|2	KLRC2|KLRC2	10476036|10476036	0.046000|0.046000	0.20272|0.20272	0.035000|0.035000	0.18076|0.18076	0.035000|0.035000	0.12851|0.12851	0.152000|0.152000	0.16302|0.16302	0.357000|0.357000	0.24183|0.24183	0.484000|0.484000	0.47621|0.47621	GGT|TTG		0.289	KLRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400111.1	NM_002260		G	10584769	C	G	10584769	3	3	434	1	0	0	0	0	1	0	0	0	8418	594	21	4	183	4	KLRC2	12	10584769	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	4144748	10584769	123267126	57	23820											
AVIL	10677	broad.mit.edu;hgsc.bcm.edu	37	12	58207208	58207208	+	Splice_Site	SNP	T	T	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr12:58207208T>C	ENST00000257861.3	-	3	572		c.e3-2		AVIL_ENST00000537081.1_Splice_Site|RP11-571M6.18_ENST00000602327.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCTCCGGGTCTGGGAGGTAGT	0.577																																																1	Unknown(1)	kidney(1)											51	48	49					12																	58207208		2203	4300	6503	SO:0001630	splice_region_variant	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.142-2A>G	12.37:g.58207208T>C			B2RAU7|Q2NKM9	Splice_Site	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.032401	0.35893	.	.	ENSG00000135407	ENST00000537081;ENST00000257861;ENST00000549994	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6047	0.62039	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AVIL	56493475	1.000000	0.71417	0.965000	0.40720	0.257000	0.26127	7.205000	0.77881	2.108000	0.64289	0.533000	0.62120	.		0.577	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576	Intron	C	58207208	T	C	58207208	5	2	434	1	0	0	0	0	0	0	1	0	1227	1594	55	3	2387	3	AVIL	12	58207208	Splice_Site	SNP	T	TCGA-BP-5185-01A-01D-1429-08	47622439	58207208	75644687	58	23821											
FAM71C	196472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100042363	100042363	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr12:100042363G>T	ENST00000324341.1	+	1	833	c.411G>T	c.(409-411)caG>caT	p.Q137H	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	137								p.Q137H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TAAAAAAACAGCTCCACCTGA	0.463																																																1	Substitution - Missense(1)	kidney(1)											73	73	73					12																	100042363		2203	4300	6503	SO:0001583	missense	196472				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.411G>T	12.37:g.100042363G>T	ENSP00000315247:p.Gln137His		B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791271	0.31685	.	.	ENSG00000180219	ENST00000324341	T	0.19806	2.12	3.83	1.96	0.26148	.	0.000000	0.50627	D	0.000106	T	0.44477	0.1295	M	0.87328	2.875	0.22918	N	0.998569	D	0.89917	1.0	D	0.97110	1.0	T	0.22068	-1.0227	9	.	.	.	-5.165	5.3898	0.16237	0.1136:0.2053:0.6811:0.0	.	137	Q8NEG0	FA71C_HUMAN	H	137	ENSP00000315247:Q137H	.	Q	+	3	2	FAM71C	98566494	0.094000	0.21725	0.934000	0.37439	0.196000	0.23810	0.608000	0.24223	0.563000	0.29222	0.555000	0.69702	CAG		0.463	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		T	100042363	G	T	100042363	3	4	434	1	0	0	0	0	1	0	0	0	5611	962	34	4	413	4	FAM71C	12	100042363	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	41835155	100042363	33809532	59	23822											
DDX54	79039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113618759	113618759	+	Silent	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr12:113618759C>T	ENST00000306014.5	-	2	306	c.279G>A	c.(277-279)aaG>aaA	p.K93K	Y_RNA_ENST00000364338.1_RNA|DDX54_ENST00000314045.7_Silent_p.K93K	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	93					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.K93K(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTCCAGACTTCTTCTTCTTCT	0.617																																																1	Substitution - coding silent(1)	kidney(1)											86	85	86					12																	113618759		2203	4300	6503	SO:0001819	synonymous_variant	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.279G>A	12.37:g.113618759C>T			Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	CCDS31907.1																																																																																				0.617	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		T	113618759	C	T	113618759	2	4	434	1	0	0	0	0	0	0	0	1	4374	912	32	2		2	DDX54	12	113618759	Silent	SNP	C	TCGA-BP-5185-01A-01D-1429-08	13576396	113618759	20233136	60	23823											
CDK8	1024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26923220	26923220	+	Silent	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr13:26923220G>A	ENST00000381527.3	+	3	719	c.216G>A	c.(214-216)gaG>gaA	p.E72E	CDK8_ENST00000536792.1_Silent_p.E72E	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E72E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TACTTCGAGAGCTTAAGCATC	0.383																																																1	Substitution - coding silent(1)	kidney(1)											225	202	210					13																	26923220		2203	4300	6503	SO:0001819	synonymous_variant	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.216G>A	13.37:g.26923220G>A			Q5VUF3|Q6ISB5	Silent	SNP	ENST00000381527.3	37	CCDS9317.1																																																																																				0.383	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			A	26923220	G	A	26923220	2	1	434	1	0	0	0	0	0	0	0	1	3152	962	34	2		2	CDK8	13	26923220	Silent	SNP	G	TCGA-BP-5185-01A-01D-1429-08		26923220	88246658	61	23824											
KBTBD6	89890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41704758	41704758	+	Silent	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr13:41704758G>A	ENST00000379485.1	-	1	2124	c.1890C>T	c.(1888-1890)ctC>ctT	p.L630L	KBTBD6_ENST00000499385.2_Silent_p.L564L	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	630								p.L630L(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTTCTTCAGTGAGGAAACTCT	0.438																																																1	Substitution - coding silent(1)	kidney(1)											126	115	119					13																	41704758		2203	4300	6503	SO:0001819	synonymous_variant	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1890C>T	13.37:g.41704758G>A			Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	CCDS9376.1																																																																																				0.438	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		A	41704758	G	A	41704758	2	1	434	1	0	0	0	0	0	0	0	1	7999	1277	45	2		2	KBTBD6	13	41704758	Silent	SNP	G	TCGA-BP-5185-01A-01D-1429-08	14781538	41704758	73465120	62	23825											
CKAP2	26586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	53035798	53035798	+	Silent	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr13:53035798A>T	ENST00000378037.5	+	4	930	c.840A>T	c.(838-840)acA>acT	p.T280T	CKAP2_ENST00000490903.1_Silent_p.T231T|CKAP2_ENST00000378034.3_Silent_p.T279T|CKAP2_ENST00000258607.5_Silent_p.T279T	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2									p.T279T(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CCAATGTTACAATCCGGAAAG	0.393																																																1	Substitution - coding silent(1)	kidney(1)											79	72	75					13																	53035798		2203	4300	6503	SO:0001819	synonymous_variant	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.840A>T	13.37:g.53035798A>T				Silent	SNP	ENST00000378037.5	37	CCDS41893.1																																																																																				0.393	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			T	53035798	A	T	53035798	2	4	434	1	0	0	0	0	0	0	0	1	3444	117	5	5		5	CKAP2	13	53035798	Silent	SNP	A	TCGA-BP-5185-01A-01D-1429-08	11331040	53035798	62134080	63	23826											
DAAM1	23002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59834206	59834206	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr14:59834206C>A	ENST00000395125.1	+	24	2939	c.2916C>A	c.(2914-2916)ttC>ttA	p.F972L	DAAM1_ENST00000360909.3_Missense_Mutation_p.F962L|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.F972L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	972	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.F972L(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGATGAGTTCTTTGGCATTT	0.383																																																1	Substitution - Missense(1)	kidney(1)											126	123	124					14																	59834206		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2916C>A	14.37:g.59834206C>A	ENSP00000378557:p.Phe972Leu		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727563	0.96847	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.22539	1.95;1.95;1.95	5.87	5.87	0.94306	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	M	0.72576	2.205	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.70016	0.947;0.967	T	0.26916	-1.0089	10	0.51188	T	0.08	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	962;972	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	962;972;972	ENSP00000354162:F962L;ENSP00000247170:F972L;ENSP00000378557:F972L	ENSP00000247170:F972L	F	+	3	2	DAAM1	58903959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.010000	0.70753	2.941000	0.99782	0.655000	0.94253	TTC		0.383	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		A	59834206	C	A	59834206	3	1	434	1	0	0	0	0	1	0	0	0	4217	912	32	4	3010	4	DAAM1	14	59834206	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08		59834206	47515334	64	23827											
APBA2	321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	29400578	29400578	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr15:29400578G>A	ENST00000558402.1	+	14	2622	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	APBA2_ENST00000411764.1_Missense_Mutation_p.V663M|APBA2_ENST00000561069.1_Missense_Mutation_p.V675M|APBA2_ENST00000558330.1_Missense_Mutation_p.V663M|APBA2_ENST00000558259.1_Missense_Mutation_p.V675M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	675	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.V675M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGCTTCAGCGTGCAGAATGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											163	147	153					15																	29400578		2203	4300	6503	SO:0001583	missense	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2023G>A	15.37:g.29400578G>A	ENSP00000453293:p.Val675Met		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067196	0.76301	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.34072	1.38	4.27	4.27	0.50696	PDZ/DHR/GLGF (4);	0.151772	0.41500	D	0.000866	T	0.62913	0.2467	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75020	0.939;0.914;0.985	T	0.70472	-0.4862	10	0.87932	D	0	.	16.2145	0.82195	0.0:0.0:1.0:0.0	.	663;663;675	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	M	663;675	ENSP00000409312:V663M	ENSP00000219865:V675M	V	+	1	0	APBA2	27187870	1.000000	0.71417	0.995000	0.50966	0.659000	0.38960	9.340000	0.97038	2.356000	0.79943	0.655000	0.94253	GTG		0.607	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		A	29400578	G	A	29400578	3	1	434	1	0	0	0	0	1	0	0	0	757	1145	40	1	2061	1	APBA2	15	29400578	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08		29400578	73130814	65	23828											
RTF1	23168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41762545	41762545	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr15:41762545A>G	ENST00000389629.4	+	7	992	c.980A>G	c.(979-981)aAg>aGg	p.K327R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	327	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.K202R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		TCCAGTGAAAAGTCAGACCGC	0.438																																																1	Substitution - Missense(1)	kidney(1)											283	275	278					15																	41762545		2203	4300	6503	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.980A>G	15.37:g.41762545A>G	ENSP00000374280:p.Lys327Arg		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085181	0.55861	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	N	0.19112	0.55	0.80722	D	1	P	0.37781	0.608	B	0.21917	0.037	T	0.18116	-1.0347	9	0.16420	T	0.52	-13.3064	15.5924	0.76543	1.0:0.0:0.0:0.0	.	327	Q92541	RTF1_HUMAN	R	327	.	ENSP00000374280:K327R	K	+	2	0	RTF1	39549837	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.962000	0.93254	2.084000	0.62774	0.533000	0.62120	AAG		0.438	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		G	41762545	A	G	41762545	3	3	434	1	0	0	0	0	1	0	0	0	13727	72	3	3	1006	3	RTF1	15	41762545	Missense_Mutation	SNP	A	TCGA-BP-5185-01A-01D-1429-08	12361967	41762545	60768847	66	23829											
DENND4A	10260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65959941	65959942	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr15:65959941_65959942delTC	ENST00000431932.2	-	28	5162_5163	c.4954_4955delGA	c.(4954-4956)gaafs	p.E1652fs	DENND4A_ENST00000443035.3_Frame_Shift_Del_p.E1695fs	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1652					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ACCTTCATTTTCCAATAAGCTT	0.416																																																0																																										SO:0001589	frameshift_variant	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4954_4955delGA	15.37:g.65959941_65959942delTC	ENSP00000396830:p.Glu1652fs		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Frame_Shift_Del	DEL	ENST00000431932.2	37	CCDS45285.1																																																																																				0.416	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		-	65959942	TC	-	65959941	7	5	434	1	0	1	0	1	0	0	0	0	4435	1783	62	0	656	0	DENND4A	15	65959941	Frame_Shift_Del	DEL	TC	TCGA-BP-5185-01A-01D-1429-08	24197396	65959941	36571451	67	23830											
PGPEP1L	145814	broad.mit.edu;hgsc.bcm.edu	37	15	99511854	99511854	+	Silent	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr15:99511854A>T	ENST00000378919.6	-	5	649	c.444T>A	c.(442-444)ccT>ccA	p.P148P	PGPEP1L_ENST00000535714.1_Silent_p.P94P|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	148							cysteine-type peptidase activity (GO:0008234)	p.P148P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GCGATAGTGGAGGGACATGGA	0.547																																																1	Substitution - coding silent(1)	kidney(1)											29	29	29					15																	99511854		1988	4152	6140	SO:0001819	synonymous_variant	145814				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.444T>A	15.37:g.99511854A>T			H0YF86	Silent	SNP	ENST00000378919.6	37	CCDS53977.1																																																																																				0.547	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		T	99511854	A	T	99511854	2	4	434	1	0	0	0	0	0	0	0	1	11806	291	11	5		5	PGPEP1L	15	99511854	Silent	SNP	A	TCGA-BP-5185-01A-01D-1429-08	33551913	99511854	3019538	68	23831											
CNOT1	23019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58594198	58594198	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr16:58594198T>G	ENST00000317147.5	-	17	2380	c.2048A>C	c.(2047-2049)aAg>aCg	p.K683T	SNORA50_ENST00000384225.2_RNA|CNOT1_ENST00000441024.2_Missense_Mutation_p.K683T|CNOT1_ENST00000569240.1_Missense_Mutation_p.K683T|CNOT1_ENST00000569732.1_5'Flank	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	683					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.K683T(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTGTCTGGCCTTATTCATAAC	0.423																																																2	Substitution - Missense(2)	kidney(2)											220	169	186					16																	58594198		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2048A>C	16.37:g.58594198T>G	ENSP00000320949:p.Lys683Thr		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593084	0.66219	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.18657	2.2;2.2	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	L	0.58101	1.795	0.80722	D	1	D;P;B	0.61080	0.989;0.483;0.418	D;B;B	0.72982	0.979;0.122;0.121	T	0.13656	-1.0501	9	.	.	.	.	15.9735	0.80040	0.0:0.0:0.0:1.0	.	683;683;683	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	T	683;112;683;683	ENSP00000320949:K683T;ENSP00000413113:K683T	.	K	-	2	0	CNOT1	57151699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.901000	0.87382	2.234000	0.73211	0.528000	0.53228	AAG		0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		G	58594198	T	G	58594198	3	3	434	1	0	0	0	0	1	0	0	0	3619	1609	56	5	5436	5	CNOT1	16	58594198	Missense_Mutation	SNP	T	TCGA-BP-5185-01A-01D-1429-08		58594198	31760555	69	23832											
SNAI3	333929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88744902	88744902	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr16:88744902G>A	ENST00000332281.5	-	3	919	c.833C>T	c.(832-834)tCc>tTc	p.S278F	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	278					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S278F(1)		NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CGCCAGGAGGGACATGCGGGA	0.677																																					Colon(27;366 710 19748 23199 27567)											1	Substitution - Missense(1)	kidney(1)											51	42	45					16																	88744902		2198	4299	6497	SO:0001583	missense	333929			BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"Snail homologs", "Zinc fingers, C2H2-type"	18411	protein-coding gene	gene with protein product		612741	"zinc finger protein 293", "snail homolog 3 (Drosophila)"	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.833C>T	16.37:g.88744902G>A	ENSP00000327968:p.Ser278Phe		Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335225	0.60853	.	.	ENSG00000185669	ENST00000332281	T	0.37058	1.22	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.073326	0.56097	D	0.000027	T	0.54127	0.1839	L	0.46670	1.46	0.58432	D	0.999991	D	0.89917	1.0	D	0.71870	0.975	T	0.56396	-0.7986	10	0.87932	D	0	-17.3362	17.6108	0.88053	0.0:0.0:1.0:0.0	.	278	Q3KNW1	SNAI3_HUMAN	F	278	ENSP00000327968:S278F	ENSP00000327968:S278F	S	-	2	0	SNAI3	87272403	1.000000	0.71417	0.982000	0.44146	0.108000	0.19459	7.147000	0.77382	2.521000	0.84997	0.561000	0.74099	TCC		0.677	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			A	88744902	G	A	88744902	3	1	434	1	0	0	0	0	1	0	0	0	14834	1174	41	2	49	2	SNAI3	16	88744902	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08	30150704	88744902	1609851	70	23833											
SPAG5	10615	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26920003	26920003	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr17:26920003A>G	ENST00000321765.5	-	3	591	c.259T>C	c.(259-261)Tca>Cca	p.S87P		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	87					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.S87P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AGCCACTTTGAGGAATGACTG	0.418																																																1	Substitution - Missense(1)	kidney(1)											121	123	122					17																	26920003		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.259T>C	17.37:g.26920003A>G	ENSP00000323300:p.Ser87Pro		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	A	4.673	0.125061	0.08931	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.73	4.59	0.56863	.	0.486602	0.17566	N	0.169659	T	0.55577	0.1929	M	0.67953	2.075	0.09310	N	1	D	0.63880	0.993	P	0.59487	0.858	T	0.50233	-0.8852	9	0.87932	D	0	-3.149	9.4559	0.38753	0.8217:0.1783:0.0:0.0	.	87	Q96R06	SPAG5_HUMAN	P	87	.	ENSP00000323300:S87P	S	-	1	0	SPAG5	23944130	0.014000	0.17966	0.024000	0.17045	0.311000	0.27955	1.722000	0.38042	2.302000	0.77476	0.533000	0.62120	TCA		0.418	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		G	26920003	A	G	26920003	3	3	434	1	0	0	0	0	1	0	0	0	14987	304	11	3	3410	3	SPAG5	17	26920003	Missense_Mutation	SNP	A	TCGA-BP-5185-01A-01D-1429-08		26920003	54275207	71	23834											
KRTAP4-12	83755	broad.mit.edu;hgsc.bcm.edu	37	17	39279933	39279933	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr17:39279933A>T	ENST00000394014.1	-	1	486	c.442T>A	c.(442-444)Tcc>Acc	p.S148T		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	148	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)		p.S148T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cagctgctggagatgcagcag	0.662																																																1	Substitution - Missense(1)	kidney(1)											18	24	22					17																	39279933		2197	4286	6483	SO:0001583	missense	83755			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.442T>A	17.37:g.39279933A>T	ENSP00000377582:p.Ser148Thr		A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	CCDS32649.1	.	.	.	.	.	.	.	.	.	.	.	7.429	0.638252	0.14386	.	.	ENSG00000213416	ENST00000394014	T	0.01629	4.72	5.07	3.91	0.45181	.	.	.	.	.	T	0.01730	0.0055	N	0.17345	0.48	0.20926	N	0.99983	P	0.39809	0.689	B	0.41202	0.35	T	0.54814	-0.8237	9	0.28530	T	0.3	.	9.9691	0.41743	0.8299:0.1701:0.0:0.0	.	148	Q9BQ66	KR412_HUMAN	T	148	ENSP00000377582:S148T	ENSP00000377582:S148T	S	-	1	0	KRTAP4-12	36533459	0.000000	0.05858	0.922000	0.36590	0.167000	0.22549	-0.903000	0.04084	2.048000	0.60808	0.391000	0.25812	TCC		0.662	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			T	39279933	A	T	39279933	3	4	434	1	0	0	0	0	1	0	0	0	8552	304	11	5	167	5	KRTAP4-12	17	39279933	Missense_Mutation	SNP	A	TCGA-BP-5185-01A-01D-1429-08	12359930	39279933	41915277	72	23835											
MED13	9969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60038959	60038959	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr17:60038959C>G	ENST00000397786.2	-	22	5322	c.5246G>C	c.(5245-5247)aGa>aCa	p.R1749T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1749					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R1749T(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATCAGGACTTCTAAGGGCAGT	0.393																																																1	Substitution - Missense(1)	kidney(1)											98	97	97					17																	60038959		1871	4098	5969	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5246G>C	17.37:g.60038959C>G	ENSP00000380888:p.Arg1749Thr		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952251	0.34471	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82081	-1.57	5.34	4.14	0.48551	.	0.148295	0.64402	D	0.000014	T	0.76543	0.4002	L	0.43152	1.355	0.34326	D	0.687131	B	0.17465	0.022	B	0.22152	0.038	T	0.76460	-0.2951	10	0.66056	D	0.02	-7.2825	9.1563	0.36994	0.0:0.1702:0.0:0.8298	.	1749	Q9UHV7	MED13_HUMAN	T	1749;1748	ENSP00000380888:R1749T	ENSP00000262436:R1748T	R	-	2	0	MED13	57393741	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.797000	0.38804	0.737000	0.32582	-0.218000	0.12543	AGA		0.393	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		G	60038959	C	G	60038959	3	3	434	1	0	0	0	0	1	0	0	0	9432	913	32	4	1314	4	MED13	17	60038959	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	20759026	60038959	21156251	73	23836											
SOX9	6662	broad.mit.edu;ucsc.edu	37	17	70119068	70119068	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr17:70119068T>C	ENST00000245479.2	+	2	1012	c.640T>C	c.(640-642)Tcc>Ccc	p.S214P		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	214					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S214P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CTCGCCACACTCCTCCTCCGG	0.687																																					Pancreas(42;83 1041 2320 35205 39456)											1	Substitution - Missense(1)	kidney(1)											59	65	63					17																	70119068		2203	4300	6503	SO:0001583	missense	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.640T>C	17.37:g.70119068T>C	ENSP00000245479:p.Ser214Pro		Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.534194	0.64972	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.82711	-1.64	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.85945	2.785	0.80722	D	1	D	0.56521	0.976	P	0.44860	0.462	D	0.85068	0.0938	10	0.29301	T	0.29	.	14.0059	0.64463	0.0:0.0:0.0:1.0	.	214	P48436	SOX9_HUMAN	P	214	ENSP00000245479:S214P	ENSP00000245479:S214P	S	+	1	0	SOX9	67630663	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	2.780000	0.47742	1.716000	0.51395	0.402000	0.26972	TCC		0.687	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		C	70119068	T	C	70119068	3	2	434	1	0	0	0	0	1	0	0	0	14964	1551	54	3	646	3	SOX9	17	70119068	Missense_Mutation	SNP	T	TCGA-BP-5185-01A-01D-1429-08	10080109	70119068	11076142	74	23837											
UNK	85451	broad.mit.edu;hgsc.bcm.edu	37	17	73814848	73814848	+	Silent	SNP	A	A	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr17:73814848A>C	ENST00000589666.1	+	11	1607	c.1497A>C	c.(1495-1497)gcA>gcC	p.A499A	UNK_ENST00000293218.3_Silent_p.A575A|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	499							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A575A(1)|p.A499A(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCATGAATGCAAACGCTCTGC	0.592																																																2	Substitution - coding silent(2)	kidney(2)											59	62	61					17																	73814848		2021	4185	6206	SO:0001819	synonymous_variant	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1497A>C	17.37:g.73814848A>C				Silent	SNP	ENST00000589666.1	37	CCDS45778.2																																																																																				0.592	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		C	73814848	A	C	73814848	2	2	434	1	0	0	0	0	0	0	0	1	17005	117	5	5		5	UNK	17	73814848	Silent	SNP	A	TCGA-BP-5185-01A-01D-1429-08	3695780	73814848	7380362	75	23838											
ANKRD12	23253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	9256041	9256042	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr18:9256041_9256042delAA	ENST00000262126.4	+	9	3016_3017	c.2776_2777delAA	c.(2776-2778)aaafs	p.K926fs	ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.K903fs|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.K903fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	926						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGCAGAAAGCAAAGAAAAGCAC	0.327																																																0																																										SO:0001589	frameshift_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2776_2777delAA	18.37:g.9256041_9256042delAA	ENSP00000262126:p.Lys926fs		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Del	DEL	ENST00000262126.4	37	CCDS11843.1																																																																																				0.327	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		-	9256042	AA	-	9256041	7	5	434	1	0	1	0	1	0	0	0	0	640	131	5	0	2806	0	ANKRD12	18	9256041	Frame_Shift_Del	DEL	AA	TCGA-BP-5185-01A-01D-1429-08		9256041	68821207	76	23839											
KIAA1468	57614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	59949659	59949659	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr18:59949659C>G	ENST00000398130.2	+	25	3467	c.3235C>G	c.(3235-3237)Ccc>Gcc	p.P1079A	KIAA1468_ENST00000256858.6_Missense_Mutation_p.P1113A	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1079								p.P1079A(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TAACGCAGAACCCAGGTTCCG	0.413																																																1	Substitution - Missense(1)	kidney(1)											165	159	161					18																	59949659		2203	4300	6503	SO:0001583	missense	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3235C>G	18.37:g.59949659C>G	ENSP00000381198:p.Pro1079Ala			Missense_Mutation	SNP	ENST00000398130.2	37	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763474	0.69763	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.66099	-0.19;-0.19	5.53	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.105101	0.64402	D	0.000002	T	0.74589	0.3736	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.97110	1.0;0.885	T	0.74275	-0.3718	9	.	.	.	-8.1468	15.49	0.75597	0.1396:0.8604:0.0:0.0	.	1113;1079	Q9P260-2;Q9P260	.;K1468_HUMAN	A	1079;1113	ENSP00000381198:P1079A;ENSP00000256858:P1113A	.	P	+	1	0	KIAA1468	58100639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.541000	0.82084	1.278000	0.44430	0.655000	0.94253	CCC		0.413	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		G	59949659	C	G	59949659	3	3	434	1	0	0	0	0	1	0	0	0	8238	507	18	4	3333	4	KIAA1468	18	59949659	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	50693618	59949659	18127589	77	23840											
FBN3	84467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8175825	8175825	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr19:8175825G>A	ENST00000600128.1	-	34	4651	c.4237C>T	c.(4237-4239)Ctc>Ttc	p.L1413F	FBN3_ENST00000270509.2_Missense_Mutation_p.L1413F|FBN3_ENST00000601739.1_Missense_Mutation_p.L1413F			Q75N90	FBN3_HUMAN	fibrillin 3	1413	EGF-like 22; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L1413F(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AATGCACAGAGGTTCCCTTGC	0.622																																																1	Substitution - Missense(1)	kidney(1)											151	121	131					19																	8175825		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4237C>T	19.37:g.8175825G>A	ENSP00000470498:p.Leu1413Phe		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	7.731	0.699203	0.15106	.	.	ENSG00000142449	ENST00000270509	D	0.92099	-2.97	3.05	-4.4	0.03600	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.128207	0.50627	U	0.000120	D	0.84092	0.5396	L	0.48260	1.515	0.26022	N	0.981856	B	0.06786	0.001	B	0.10450	0.005	T	0.71724	-0.4506	10	0.54805	T	0.06	.	4.69	0.12776	0.2383:0.0:0.2057:0.556	.	1413	Q75N90	FBN3_HUMAN	F	1413	ENSP00000270509:L1413F	ENSP00000270509:L1413F	L	-	1	0	FBN3	8081825	1.000000	0.71417	0.011000	0.14972	0.055000	0.15305	1.122000	0.31295	-0.345000	0.08325	0.462000	0.41574	CTC		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8175825	G	A	8175825	3	1	434	1	0	0	0	0	1	0	0	0	5706	1000	35	2	4316	2	FBN3	19	8175825	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08		8175825	50953158	78	23841											
NLRP12	91662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54313706	54313706	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr19:54313706C>A	ENST00000324134.6	-	3	1375	c.1207G>T	c.(1207-1209)Gtc>Ttc	p.V403F	NLRP12_ENST00000391772.1_Missense_Mutation_p.V403F|NLRP12_ENST00000391775.3_Missense_Mutation_p.V403F|NLRP12_ENST00000535162.1_Missense_Mutation_p.V403F|NLRP12_ENST00000354278.3_Missense_Mutation_p.V403F|NLRP12_ENST00000391773.1_Missense_Mutation_p.V403F|NLRP12_ENST00000345770.5_Missense_Mutation_p.V403F|NLRP12_ENST00000351894.4_Missense_Mutation_p.V403F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.V403F(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACCAGGGGGACGAAGCACATG	0.557																																																1	Substitution - Missense(1)	kidney(1)											159	154	156					19																	54313706		2203	4300	6503	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1207G>T	19.37:g.54313706C>A	ENSP00000319377:p.Val403Phe		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481999	0.44147	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	4.64	3.59	0.41128	NACHT nucleoside triphosphatase (1);	0.000000	0.38897	N	0.001528	D	0.91476	0.7309	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.64830	0.994;0.989;0.994;0.992	P;P;P;P	0.61070	0.842;0.832;0.879;0.883	D	0.91161	0.4961	10	0.87932	D	0	.	7.4752	0.27371	0.0:0.8:0.0:0.2	.	403;403;403;403	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	F	403	ENSP00000319377:V403F;ENSP00000438030:V403F;ENSP00000340473:V403F;ENSP00000346231:V403F;ENSP00000375655:V403F;ENSP00000375653:V403F;ENSP00000375652:V403F	ENSP00000319377:V403F	V	-	1	0	NLRP12	59005518	0.051000	0.20477	0.016000	0.15963	0.572000	0.35998	0.622000	0.24433	1.091000	0.41335	0.485000	0.47835	GTC		0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54313706	C	A	54313706	3	1	434	1	0	0	0	0	1	0	0	0	10476	536	19	4	2106	4	NLRP12	19	54313706	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	46137881	54313706	4815277	79	23842	181	2									
NLRP12	91662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54313711	54313711	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr19:54313711C>T	ENST00000324134.6	-	3	1370	c.1202G>A	c.(1201-1203)tGc>tAc	p.C401Y	NLRP12_ENST00000391772.1_Missense_Mutation_p.C401Y|NLRP12_ENST00000391775.3_Missense_Mutation_p.C401Y|NLRP12_ENST00000535162.1_Missense_Mutation_p.C401Y|NLRP12_ENST00000354278.3_Missense_Mutation_p.C401Y|NLRP12_ENST00000391773.1_Missense_Mutation_p.C401Y|NLRP12_ENST00000345770.5_Missense_Mutation_p.C401Y|NLRP12_ENST00000351894.4_Missense_Mutation_p.C401Y	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	401	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.C401Y(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGGGACGAAGCACATGGTGAA	0.567																																																1	Substitution - Missense(1)	kidney(1)											170	163	165					19																	54313711		2203	4300	6503	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1202G>A	19.37:g.54313711C>T	ENSP00000319377:p.Cys401Tyr		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441384	0.63067	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	4.64	4.64	0.57946	NACHT nucleoside triphosphatase (1);	0.000000	0.47093	D	0.000258	D	0.95519	0.8544	H	0.95950	3.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.997;0.998	D	0.96921	0.9674	10	0.87932	D	0	.	15.4217	0.75018	0.0:1.0:0.0:0.0	.	401;401;401;401	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	Y	401	ENSP00000319377:C401Y;ENSP00000438030:C401Y;ENSP00000340473:C401Y;ENSP00000346231:C401Y;ENSP00000375655:C401Y;ENSP00000375653:C401Y;ENSP00000375652:C401Y	ENSP00000319377:C401Y	C	-	2	0	NLRP12	59005523	1.000000	0.71417	0.372000	0.25991	0.655000	0.38815	5.100000	0.64560	2.315000	0.78130	0.485000	0.47835	TGC		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		T	54313711	C	T	54313711	3	4	434	1	0	0	0	0	1	0	0	0	10476	710	25	2	2111	2	NLRP12	19	54313711	Missense_Mutation	SNP	C	TCGA-BP-5185-01A-01D-1429-08	5	54313711	4815272	80	23843	181	2									
CLDN14	23562	hgsc.bcm.edu;ucsc.edu	37	21	37833694	37833694	+	Silent	SNP	G	G	A	rs113350364	byFrequency	TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr21:37833694G>A	ENST00000399137.1	-	3	1166	c.300C>T	c.(298-300)atC>atT	p.I100I	CLDN14_ENST00000342108.2_Silent_p.I100I|CLDN14_ENST00000399139.1_Silent_p.I100I|AP000695.4_ENST00000454980.1_RNA|CLDN14_ENST00000399136.1_Silent_p.I100I|CLDN14_ENST00000399135.1_Silent_p.I100I|AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	100					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						ACTTCATCCCGATGACGGCGC	0.682													G|||	22	0.00439297	0.0008	0.0043	5008	,	,		18910	0.001		0.001	False		,,,				2504	0.0164															0								G	,,,,	10,4396	15.5+/-35.6	0,10,2193	51	50	50		300,300,300,300,300	-6.4	0.1	21	dbSNP_132	50	10,8588	5.7+/-21.5	0,10,4289	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLDN14	NM_001146077.1,NM_001146078.1,NM_001146079.1,NM_012130.2,NM_144492.2	,,,,	0,20,6482	AA,AG,GG		0.1163,0.227,0.1538	,,,,	100/240,100/240,100/240,100/240,100/240	37833694	20,12984	2203	4299	6502	SO:0001819	synonymous_variant	23562			AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"Claudins"	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.300C>T	21.37:g.37833694G>A				Silent	SNP	ENST00000399137.1	37	CCDS13645.1																																																																																				0.682	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492		A	37833694	G	A	37833694	2	1	434	1	0	0	0	0	0	0	0	1	3477	1048	37	1		1	CLDN14	21	37833694	Silent	SNP	G	TCGA-BP-5185-01A-01D-1429-08		37833694	10296201	81	23844											
CABIN1	23523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24463082	24463082	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr22:24463082G>C	ENST00000398319.2	+	16	2567	c.2182G>C	c.(2182-2184)Gag>Cag	p.E728Q	CABIN1_ENST00000405822.2_Missense_Mutation_p.E678Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.E728Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	728					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.E728Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAAACACCTGGAGTTTATGAC	0.567																																																1	Substitution - Missense(1)	kidney(1)											71	70	70					22																	24463082		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2182G>C	22.37:g.24463082G>C	ENSP00000381364:p.Glu728Gln		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130552	0.94473	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.34472	1.36;1.36;1.36	5.41	5.41	0.78517	.	0.101211	0.64402	D	0.000003	T	0.53384	0.1793	L	0.58101	1.795	0.80722	D	1	D;D	0.59767	0.986;0.976	P;P	0.58721	0.844;0.703	T	0.48725	-0.9010	10	0.45353	T	0.12	.	18.6283	0.91349	0.0:0.0:1.0:0.0	.	678;728	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	Q	728;678;728	ENSP00000263119:E728Q;ENSP00000384694:E678Q;ENSP00000381364:E728Q	ENSP00000263119:E728Q	E	+	1	0	CABIN1	22793082	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.419000	0.73345	2.717000	0.92951	0.650000	0.86243	GAG		0.567	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		C	24463082	G	C	24463082	3	2	434	1	0	0	0	0	1	0	0	0	2530	1175	41	4	2240	4	CABIN1	22	24463082	Missense_Mutation	SNP	G	TCGA-BP-5185-01A-01D-1429-08		24463082	26841484	82	23845											
GAL3ST1	9514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30952062	30952062	+	Frame_Shift_Del	DEL	C	C	-	rs73394272	byFrequency	TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr22:30952062delC	ENST00000402321.1	-	3	467	c.150delG	c.(148-150)gcgfs	p.A50fs	GAL3ST1_ENST00000406361.1_Frame_Shift_Del_p.A50fs|GAL3ST1_ENST00000406955.1_Frame_Shift_Del_p.A50fs|GAL3ST1_ENST00000402369.1_Frame_Shift_Del_p.A50fs|GAL3ST1_ENST00000443111.2_Frame_Shift_Del_p.A50fs|GAL3ST1_ENST00000338911.5_Frame_Shift_Del_p.A50fs|GAL3ST1_ENST00000401975.1_Frame_Shift_Del_p.A50fs			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	50					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GAGAGCAGGACGCTGCGGCCT	0.662																																																0													24	28	27					22																	30952062		2195	4285	6480	SO:0001589	frameshift_variant	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.150delG	22.37:g.30952062delC	ENSP00000385735:p.Ala50fs		Q96C63	Frame_Shift_Del	DEL	ENST00000402321.1	37	CCDS13879.1																																																																																				0.662	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		-	30952062	C	-	30952062	7	5	434	1	0	1	0	1	0	0	0	0	6199	523	19	0	1125	0	GAL3ST1	22	30952062	Frame_Shift_Del	DEL	C	TCGA-BP-5185-01A-01D-1429-08	6488980	30952062	20352504	83	23846											
EIF4ENIF1	56478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	31850208	31850208	+	Silent	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr22:31850208G>A	ENST00000397525.1	-	10	1657	c.1434C>T	c.(1432-1434)gaC>gaT	p.D478D	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Silent_p.D315D|EIF4ENIF1_ENST00000330125.5_Silent_p.D478D|EIF4ENIF1_ENST00000397523.1_Silent_p.D478D|EIF4ENIF1_ENST00000382180.2_Silent_p.D157D	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	478						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.D478D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCATGTCTCCGTCTTTCTTCA	0.478																																																1	Substitution - coding silent(1)	kidney(1)											195	153	167					22																	31850208		2203	4300	6503	SO:0001819	synonymous_variant	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1434C>T	22.37:g.31850208G>A			B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	CCDS13898.1																																																																																				0.478	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		A	31850208	G	A	31850208	2	1	434	1	0	0	0	0	0	0	0	1	5037	1136	40	1		1	EIF4ENIF1	22	31850208	Silent	SNP	G	TCGA-BP-5185-01A-01D-1429-08	898146	31850208	19454358	84	23847											
INPP5B	3633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	38343913	38343913	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr1:38343913T>C	ENST00000373026.1	-	15	1864	c.1864A>G	c.(1864-1866)Atg>Gtg	p.M622V	INPP5B_ENST00000373023.2_Missense_Mutation_p.M622V|INPP5B_ENST00000373024.3_Missense_Mutation_p.M542V|INPP5B_ENST00000373027.1_Missense_Mutation_p.M378V|INPP5B_ENST00000458109.2_3'UTR			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	622	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.M622V(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCAGGGCCATGTGGCTCTGG	0.527																																																1	Substitution - Missense(1)	kidney(1)											100	103	102					1																	38343913		2059	4209	6268	SO:0001583	missense	3633			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1864A>G	1.37:g.38343913T>C	ENSP00000362117:p.Met622Val		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37		.	.	.	.	.	.	.	.	.	.	T	19.37	3.814690	0.70912	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	5.43	5.43	0.79202	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.96056	0.8715	M	0.77103	2.36	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.62491	0.903;0.843	D	0.94674	0.7859	10	0.21540	T	0.41	.	12.068	0.53598	0.0:0.0:0.1437:0.8563	.	622;542	P32019;P32019-2	I5P2_HUMAN;.	V	378;622;622;622;542	ENSP00000362118:M378V;ENSP00000362114:M622V;ENSP00000362117:M622V;ENSP00000362115:M542V	ENSP00000362114:M622V	M	-	1	0	INPP5B	38116500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.827000	0.69300	2.078000	0.62432	0.460000	0.39030	ATG		0.527	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		C	38343913	T	C	38343913	3	2	435	1	0	0	0	0	1	0	0	0	7757	1464	51	3	1153	3	INPP5B	1	38343913	Missense_Mutation	SNP	T	TCGA-BP-5186-01A-01D-1429-08		38343913	210906708	1	23848											
PRG4	10216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186278973	186278973	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr1:186278973T>A	ENST00000445192.2	+	8	3515	c.3470T>A	c.(3469-3471)tTg>tAg	p.L1157*	PRG4_ENST00000367485.4_Nonsense_Mutation_p.L1064*|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367483.4_Nonsense_Mutation_p.L1116*|PRG4_ENST00000367486.3_Nonsense_Mutation_p.L1114*|PRG4_ENST00000367484.3_Nonsense_Mutation_p.L686*	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1157					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.L1157*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGACTACTTTGCGCAATGGG	0.358																																																1	Substitution - Nonsense(1)	kidney(1)											209	189	196					1																	186278973		2203	4300	6503	SO:0001587	stop_gained	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3470T>A	1.37:g.186278973T>A	ENSP00000399679:p.Leu1157*		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Nonsense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	T	38	7.100329	0.98063	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	.	.	.	4.69	4.69	0.59074	.	0.000000	0.35040	U	0.003493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8862	13.9049	0.63828	0.0:0.0:0.0:1.0	.	.	.	.	X	1114;686;1116;1064;1157	.	ENSP00000356453:L1116X	L	+	2	0	PRG4	184545596	1.000000	0.71417	0.800000	0.32199	0.334000	0.28698	6.349000	0.73013	1.772000	0.52199	0.524000	0.50904	TTG		0.358	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		A	186278973	T	A	186278973	4	1	435	1	0	0	0	0	0	1	0	0	12486	1821	63	5	3496	5	PRG4	1	186278973	Nonsense_Mutation	SNP	T	TCGA-BP-5186-01A-01D-1429-08	147935060	186278973	62971648	2	23849											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201017771	201017771	+	Silent	SNP	T	T	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr1:201017771T>A	ENST00000362061.3	-	36	4606	c.4380A>T	c.(4378-4380)acA>acT	p.T1460T	CACNA1S_ENST00000367338.3_Silent_p.T1441T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1460					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T1460T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAAGGTGACTGTGCCGTCGC	0.607																																																1	Substitution - coding silent(1)	kidney(1)											131	100	110					1																	201017771		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4380A>T	1.37:g.201017771T>A			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201017771	T	A	201017771	2	1	435	1	0	0	0	0	0	0	0	1	2549	1567	55	5		5	CACNA1S	1	201017771	Silent	SNP	T	TCGA-BP-5186-01A-01D-1429-08	14738798	201017771	48232850	3	23850											
PLEKHH2	130271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43934682	43934682	+	Missense_Mutation	SNP	G	G	A	rs200629095		TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr2:43934682G>A	ENST00000282406.4	+	11	2074	c.1964G>A	c.(1963-1965)cGa>cAa	p.R655Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	655	Ser-rich.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.R655Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCCATGAAACGAGGTGAGGGA	0.478																																																1	Substitution - Missense(1)	kidney(1)						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	54	58	56		1964	4.7	1	2		56	0,8600		0,0,4300	no	missense	PLEKHH2	NM_172069.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	655/1494	43934682	1,13005	2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1964G>A	2.37:g.43934682G>A	ENSP00000282406:p.Arg655Gln		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260171	0.95368	2.27E-4	0.0	ENSG00000152527	ENST00000282406	T	0.13778	2.56	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000001	T	0.31199	0.0789	L	0.43923	1.385	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.986;0.999	T	0.02431	-1.1160	10	0.56958	D	0.05	-6.1912	17.7253	0.88363	0.0:0.0:1.0:0.0	.	655;92;655	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	Q	655	ENSP00000282406:R655Q	ENSP00000282406:R655Q	R	+	2	0	PLEKHH2	43788186	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.526000	0.90588	2.430000	0.82344	0.460000	0.39030	CGA		0.478	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		A	43934682	G	A	43934682	3	1	435	1	0	0	0	0	1	0	0	0	12079	1058	37	1	2002	1	PLEKHH2	2	43934682	Missense_Mutation	SNP	G	TCGA-BP-5186-01A-01D-1429-08		43934682	199264691	4	23851											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188320	10188324	+	Splice_Site	DEL	GGTAC	GGTAC	-	rs5030814|rs397516443	byFrequency	TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	GGTAC	GGTAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr3:10188320_10188324delGGTAC	ENST00000256474.2	+	2	1303	c.463delGGTAC	c.(463-465)ggt>gt	p.G155fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	155	Involved in binding to CCT complex.		V -> G (in VHLD; type II). {ECO:0000269|Ref.41}.|V -> M (in VHLD; with RCC).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(26)|p.V155L(6)|p.V155M(3)|p.V155fs*4(3)|p.L153fs*4(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACACTGCCAGGTACTGACGTTTTA	0.41		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	39	Unknown(26)|Substitution - Missense(9)|Deletion - Frameshift(4)	kidney(38)|endometrium(1)	GRCh37	CM023999|CS003080|CS004297|CS951541|CS961707|CS961708	VHL	M|S	rs5030814|rs5030815																																			SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.463+1GGTAC>-	3.37:g.10188320_10188324delGGTAC			B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.41	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Frame_Shift_Del	-	10188324	GGTAC	-	10188320	8	5	435	1	0	1	0	1	0	0	1	0	17167	1014	35	0	469	0	VHL	3	10188320	Splice_Site	DEL	GGTAC	TCGA-BP-5186-01A-01D-1429-08		10188320	187834110	5	23852											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52610643	52610643	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr3:52610643G>T	ENST00000296302.7	-	22	3606	c.3605C>A	c.(3604-3606)aCa>aAa	p.T1202K	PBRM1_ENST00000409114.3_Missense_Mutation_p.T1217K|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Missense_Mutation_p.T1202K|PBRM1_ENST00000409057.1_Missense_Mutation_p.T1202K|PBRM1_ENST00000394830.3_Missense_Mutation_p.T1177K|PBRM1_ENST00000356770.4_Missense_Mutation_p.T1170K|PBRM1_ENST00000409767.1_Missense_Mutation_p.T1217K|PBRM1_ENST00000410007.1_Missense_Mutation_p.T1177K			Q86U86	PB1_HUMAN	polybromo 1	1202	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T1202K(2)|p.T1170K(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTCATGCTCTGTTTCTTCTGG	0.383			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											120	116	118					3																	52610643		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3605C>A	3.37:g.52610643G>T	ENSP00000296302:p.Thr1202Lys		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	29.7	5.024274	0.93462	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.62	5.62	0.85841	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	M	0.90977	3.165	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.99;0.996;0.994;0.998;1.0;0.996;0.996	D	0.95533	0.8605	10	0.66056	D	0.02	.	19.6678	0.95900	0.0:0.0:1.0:0.0	.	1177;1177;1202;1217;1217;1202;1170;1202	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	K	1170;1177;1202;1202;1202;1177;1217;1217;1201	ENSP00000349213:T1170K;ENSP00000378307:T1177K;ENSP00000296302:T1202K;ENSP00000338302:T1202K;ENSP00000386593:T1202K;ENSP00000386529:T1177K;ENSP00000386643:T1217K;ENSP00000386601:T1217K;ENSP00000387775:T1201K	ENSP00000296302:T1202K	T	-	2	0	PBRM1	52585683	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	9.796000	0.99103	2.659000	0.90383	0.585000	0.79938	ACA		0.383	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52610643	G	T	52610643	3	4	435	1	0	0	0	0	1	0	0	0	11493	1377	48	4	1331	4	PBRM1	3	52610643	Missense_Mutation	SNP	G	TCGA-BP-5186-01A-01D-1429-08	42422323	52610643	145411787	6	23853											
ADAMTS9	56999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	64619448	64619448	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr3:64619448G>T	ENST00000498707.1	-	13	2306	c.1964C>A	c.(1963-1965)gCt>gAt	p.A655D	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A627D	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	655	Cys-rich.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A655D(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTCAAAGTGAGCACACTGTTC	0.458																																																1	Substitution - Missense(1)	kidney(1)											190	171	177					3																	64619448		2203	4300	6503	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1964C>A	3.37:g.64619448G>T	ENSP00000418735:p.Ala655Asp		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271067	0.95429	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.03745	3.82;3.82	5.51	5.51	0.81932	.	0.064357	0.64402	D	0.000008	T	0.19208	0.0461	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.71674	0.957;0.975;0.998;0.957	P;P;D;P	0.68765	0.641;0.837;0.96;0.641	T	0.00074	-1.2123	10	0.87932	D	0	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	627;655;655;655	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	D	627;655	ENSP00000295903:A627D;ENSP00000418735:A655D	ENSP00000295903:A627D	A	-	2	0	ADAMTS9	64594488	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.518000	0.81795	2.600000	0.87896	0.655000	0.94253	GCT		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			T	64619448	G	T	64619448	3	4	435	1	0	0	0	0	1	0	0	0	273	971	34	4	3951	4	ADAMTS9	3	64619448	Missense_Mutation	SNP	G	TCGA-BP-5186-01A-01D-1429-08	12008805	64619448	133402982	7	23854											
SPARCL1	8404	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	88394938	88394938	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr4:88394938G>C	ENST00000282470.6	-	11	2454	c.1984C>G	c.(1984-1986)Ctc>Gtc	p.L662V	SPARCL1_ENST00000418378.1_Missense_Mutation_p.L662V|SPARCL1_ENST00000503414.1_Missense_Mutation_p.L537V	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	662					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.L662V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CAAAACAAGAGATTTTCATCT	0.343																																																1	Substitution - Missense(1)	kidney(1)											94	102	99					4																	88394938		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1984C>G	4.37:g.88394938G>C	ENSP00000282470:p.Leu662Val		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784142	0.70222	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.34859	1.89;1.89;1.34	4.86	4.86	0.63082	EF-hand-like domain (1);	0.078077	0.49305	D	0.000151	T	0.58148	0.2102	M	0.73962	2.25	0.40257	D	0.978138	D	0.69078	0.997	D	0.64237	0.923	T	0.63673	-0.6584	10	0.72032	D	0.01	-9.6608	15.5793	0.76422	0.0:0.0:1.0:0.0	.	662	Q14515	SPRL1_HUMAN	V	662;662;537;537	ENSP00000282470:L662V;ENSP00000414856:L662V;ENSP00000422903:L537V	ENSP00000282470:L662V	L	-	1	0	SPARCL1	88613962	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.493000	0.66899	2.619000	0.88677	0.655000	0.94253	CTC		0.343	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			C	88394938	G	C	88394938	3	2	435	1	0	0	0	0	1	0	0	0	15001	942	33	4	14	4	SPARCL1	4	88394938	Missense_Mutation	SNP	G	TCGA-BP-5186-01A-01D-1429-08		88394938	102759338	8	23855											
GRID2	2895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	94693413	94693413	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr4:94693413A>T	ENST00000282020.4	+	16	3046	c.2788A>T	c.(2788-2790)Aca>Tca	p.T930S	GRID2_ENST00000510992.1_Missense_Mutation_p.T835S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	930	Interaction with AP4M1. {ECO:0000250}.				cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.T930S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TATTACCACAACAACCTTTAT	0.483																																																1	Substitution - Missense(1)	kidney(1)											146	137	140					4																	94693413		2203	4300	6503	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2788A>T	4.37:g.94693413A>T	ENSP00000282020:p.Thr930Ser		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.877890	0.33162	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.15256	2.5;2.44	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	N	0.20986	0.625	0.80722	D	1	P;P	0.52842	0.956;0.956	P;P	0.62184	0.899;0.899	T	0.04551	-1.0943	10	0.10636	T	0.68	.	15.4652	0.75394	1.0:0.0:0.0:0.0	.	835;930	E9PH24;O43424	.;GRID2_HUMAN	S	930;835	ENSP00000282020:T930S;ENSP00000421257:T835S	ENSP00000282020:T930S	T	+	1	0	GRID2	94912436	1.000000	0.71417	0.958000	0.39756	0.995000	0.86356	8.918000	0.92759	2.047000	0.60756	0.528000	0.53228	ACA		0.483	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			T	94693413	A	T	94693413	3	4	435	1	0	0	0	0	1	0	0	0	6774	43	2	5	2850	5	GRID2	4	94693413	Missense_Mutation	SNP	A	TCGA-BP-5186-01A-01D-1429-08	6298475	94693413	96460863	9	23856											
ANKRA2	57763	broad.mit.edu;hgsc.bcm.edu	37	5	72849308	72849308	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr5:72849308C>A	ENST00000296785.3	-	8	1467	c.809G>T	c.(808-810)aGt>aTt	p.S270I		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	270						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)	p.S270I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		ATCAGCCCCACTTTCTATACC	0.358																																																1	Substitution - Missense(1)	kidney(1)											68	63	64					5																	72849308		2203	4300	6503	SO:0001583	missense	57763			AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"Ankyrin repeat domain containing"	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.809G>T	5.37:g.72849308C>A	ENSP00000296785:p.Ser270Ile			Missense_Mutation	SNP	ENST00000296785.3	37	CCDS4020.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483680	0.26598	.	.	ENSG00000164331	ENST00000296785	T	0.65916	-0.18	6.04	3.53	0.40419	Ankyrin repeat-containing domain (4);	0.211922	0.56097	D	0.000023	T	0.56321	0.1977	L	0.48935	1.535	0.43007	D	0.994533	B	0.27380	0.177	B	0.34931	0.192	T	0.53872	-0.8377	10	0.54805	T	0.06	-10.7669	9.2438	0.37513	0.0:0.2221:0.0:0.7779	.	270	Q9H9E1	ANRA2_HUMAN	I	270	ENSP00000296785:S270I	ENSP00000296785:S270I	S	-	2	0	ANKRA2	72885064	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.923000	0.40055	0.521000	0.28445	-0.440000	0.05779	AGT		0.358	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039		A	72849308	C	A	72849308	3	1	435	1	0	0	0	0	1	0	0	0	636	565	20	4	140	4	ANKRA2	5	72849308	Missense_Mutation	SNP	C	TCGA-BP-5186-01A-01D-1429-08		72849308	108065952	10	23857											
COL11A2	1302	hgsc.bcm.edu	37	6	33156155	33156155	+	Frame_Shift_Del	DEL	T	T	-	rs190156778		TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr6:33156155delT	ENST00000374708.4	-	4	848	c.590delA	c.(589-591)gatfs	p.D197fs	COL11A2_ENST00000395194.1_Frame_Shift_Del_p.D197fs|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.D197fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.D197fs|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.D197fs|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.D197fs|COL11A2_ENST00000341947.2_Frame_Shift_Del_p.D197fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.D197fs|COL11A2_ENST00000361917.1_Frame_Shift_Del_p.D197fs	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	197	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GACTTCTTCATCCAGAATACG	0.527																																					Melanoma(1;90 116 3946 5341 17093)											0													120	127	125					6																	33156155		1511	2708	4219	SO:0001589	frameshift_variant	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.590delA	6.37:g.33156155delT	ENSP00000363840:p.Asp197fs		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Frame_Shift_Del	DEL	ENST00000374708.4	37	CCDS43452.1																																																																																				0.527	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			-	33156155	T	-	33156155	7	5	435	1	0	1	0	1	0	0	0	0	3670	1435	50	0	4947	0	COL11A2	6	33156155	Frame_Shift_Del	DEL	T	TCGA-BP-5186-01A-01D-1429-08		33156155	137958912	11	23858											
SSPO	23145	broad.mit.edu;hgsc.bcm.edu	37	7	149486417	149486417	+	RNA	SNP	C	C	G			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr7:149486417C>G	ENST00000378016.2	+	0	4393							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGACGCTGCCTGCCGCCGGC	0.677																																																0													21	24	23					7																	149486417		2198	4293	6491			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486417C>G			Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149486417	C	G	149486417	1	3	435	0	1	0	0	0	0	0	0	0	15194	680	24	4		4	SSPO	7	149486417	RNA	SNP	C	TCGA-BP-5186-01A-01D-1429-08		149486417	9652246	12	23859											
PIWIL2	55124	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	22167480	22167480	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr8:22167480G>A	ENST00000454009.2	+	15	2202	c.1693G>A	c.(1693-1695)Gga>Aga	p.G565R	PIWIL2_ENST00000356766.6_Missense_Mutation_p.G565R|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G565R	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	565					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.G565R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TTAGATTGAAGGACGTGTTCT	0.388																																																1	Substitution - Missense(1)	kidney(1)											118	119	119					8																	22167480		2203	4300	6503	SO:0001583	missense	55124			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1693G>A	8.37:g.22167480G>A	ENSP00000406956:p.Gly565Arg		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606076	0.87157	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.07216	3.21;3.21;3.21	6.03	6.03	0.97812	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	M	0.81341	2.54	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.64506	0.926;0.926	T	0.00780	-1.1569	10	0.87932	D	0	6.0E-4	17.4736	0.87653	0.0:0.0:1.0:0.0	.	565;565	E7ECA4;Q8TC59	.;PIWL2_HUMAN	R	565	ENSP00000349208:G565R;ENSP00000428267:G565R;ENSP00000406956:G565R	ENSP00000349208:G565R	G	+	1	0	PIWIL2	22223425	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.267000	0.78462	2.861000	0.98227	0.655000	0.94253	GGA		0.388	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			A	22167480	G	A	22167480	3	1	435	1	0	0	0	0	1	0	0	0	11960	1001	35	2	1747	2	PIWIL2	8	22167480	Missense_Mutation	SNP	G	TCGA-BP-5186-01A-01D-1429-08		22167480	124196542	13	23860											
IKBKAP	8518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	111659236	111659236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr9:111659236G>A	ENST00000374647.5	-	24	2891	c.2584C>T	c.(2584-2586)Caa>Taa	p.Q862*	IKBKAP_ENST00000537196.1_Nonsense_Mutation_p.Q513*	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	862					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.Q862*(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTCTACCTTGAAGCTCGTGT	0.443																																																1	Substitution - Nonsense(1)	kidney(1)											114	111	112					9																	111659236		2203	4300	6503	SO:0001587	stop_gained	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2584C>T	9.37:g.111659236G>A	ENSP00000363779:p.Gln862*		Q5JSV2|Q9H327|Q9UG87	Nonsense_Mutation	SNP	ENST00000374647.5	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	41	8.962568	0.99018	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	.	.	.	5.59	5.59	0.84812	.	0.083020	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0846	0.53690	0.0:0.0:0.8282:0.1718	.	.	.	.	X	862;513	.	ENSP00000363779:Q862X	Q	-	1	0	IKBKAP	110699057	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.719000	0.54926	2.625000	0.88918	0.467000	0.42956	CAA		0.443	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			A	111659236	G	A	111659236	4	1	435	1	0	0	0	0	0	1	0	0	7612	1299	45	2	1470	2	IKBKAP	9	111659236	Nonsense_Mutation	SNP	G	TCGA-BP-5186-01A-01D-1429-08		111659236	29554195	14	23861											
ZFP37	7539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	115818875	115818875	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr9:115818875G>T	ENST00000374227.3	-	1	121	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	ZFP37_ENST00000555206.1_Missense_Mutation_p.L32M|ZFP37_ENST00000553380.1_Missense_Mutation_p.L32M	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L32M(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCCATCTCCAGTGGTCGCCCG	0.632																																																1	Substitution - Missense(1)	kidney(1)											155	161	159					9																	115818875		2203	4300	6503	SO:0001583	missense	7539			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.94C>A	9.37:g.115818875G>T	ENSP00000363344:p.Leu32Met		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	g	13.68	2.310440	0.40895	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05925	3.39;3.37;3.49	3.29	-2.3	0.06785	Krueppel-associated box (2);	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	P;P;B	0.36249	0.545;0.545;0.41	B;B;B	0.38755	0.281;0.281;0.146	T	0.37314	-0.9711	9	0.48119	T	0.1	33.741	1.9329	0.03331	0.1074:0.3336:0.2517:0.3073	.	32;32;32	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	M	32	ENSP00000363344:L32M;ENSP00000451310:L32M;ENSP00000452552:L32M	ENSP00000363344:L32M	L	-	1	2	ZFP37	114858696	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.795000	0.04580	-0.537000	0.06290	-0.260000	0.10688	CTG		0.632	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		T	115818875	G	T	115818875	3	4	435	1	0	0	0	0	1	0	0	0	17653	1020	36	4	1814	4	ZFP37	9	115818875	Missense_Mutation	SNP	G	TCGA-BP-5186-01A-01D-1429-08	4159639	115818875	25394556	15	23862											
NMT2	9397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	15151770	15151770	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr10:15151770A>T	ENST00000378165.4	-	11	1487	c.1407T>A	c.(1405-1407)ttT>ttA	p.F469L	NMT2_ENST00000540259.1_Missense_Mutation_p.F281L|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.F456L|NMT2_ENST00000535341.1_Missense_Mutation_p.F456L|NMT2_ENST00000466201.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	469					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.F469L(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CTCCTATACCAAACTTGAGTT	0.328																																					Melanoma(117;1345 1645 4130 12688 30625)											1	Substitution - Missense(1)	kidney(1)											128	126	126					10																	15151770		2203	4299	6502	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1407T>A	10.37:g.15151770A>T	ENSP00000367407:p.Phe469Leu		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423211	0.83559	.	.	ENSG00000152465	ENST00000441445;ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.66460	-0.21	5.51	5.51	0.81932	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, conserved site (1);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87585	0.6214	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91538	0.5247	10	0.87932	D	0	-22.7366	15.925	0.79609	1.0:0.0:0.0:0.0	.	456;469	Q5VUC6;O60551	.;NMT2_HUMAN	L	33;469;456;500;281;456	ENSP00000367407:F469L	ENSP00000367385:F500L	F	-	3	2	NMT2	15191776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.817000	0.55668	2.225000	0.72522	0.533000	0.62120	TTT		0.328	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		T	15151770	A	T	15151770	3	4	435	1	0	0	0	0	1	0	0	0	10506	127	5	5	97	5	NMT2	10	15151770	Missense_Mutation	SNP	A	TCGA-BP-5186-01A-01D-1429-08		15151770	120382977	16	23863											
MICALCL	84953	broad.mit.edu;ucsc.edu	37	11	12316166	12316166	+	Silent	SNP	T	T	G			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr11:12316166T>G	ENST00000256186.2	+	3	1479	c.1188T>G	c.(1186-1188)ctT>ctG	p.L396L		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	396					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.L396L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAATCTCACTTTTTTCCTCCC	0.458																																																1	Substitution - coding silent(1)	kidney(1)											124	127	126					11																	12316166		1858	4102	5960	SO:0001819	synonymous_variant	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1188T>G	11.37:g.12316166T>G			Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	CCDS41620.1																																																																																				0.458	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		G	12316166	T	G	12316166	2	3	435	1	0	0	0	0	0	0	0	1	9574	1828	64	5		5	MICALCL	11	12316166	Silent	SNP	T	TCGA-BP-5186-01A-01D-1429-08		12316166	122690350	17	23864											
KDM4D	55693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94731985	94731985	+	Silent	SNP	T	T	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr11:94731985T>A	ENST00000335080.5	+	3	2281	c.1449T>A	c.(1447-1449)gcT>gcA	p.A483A	KDM4D_ENST00000536741.1_Silent_p.A483A	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	483					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.A483A(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATGCACAGCTTCGGGCCCAG	0.617																																																1	Substitution - coding silent(1)	kidney(1)											31	34	33					11																	94731985		2201	4298	6499	SO:0001819	synonymous_variant	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1449T>A	11.37:g.94731985T>A			B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	CCDS8302.1																																																																																				0.617	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		A	94731985	T	A	94731985	2	1	435	1	0	0	0	0	0	0	0	1	8133	1596	56	5		5	KDM4D	11	94731985	Silent	SNP	T	TCGA-BP-5186-01A-01D-1429-08	82415819	94731985	40274531	18	23865											
ST14	6768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	130066577	130066577	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr11:130066577T>A	ENST00000278742.5	+	11	1754	c.1336T>A	c.(1336-1338)Tcc>Acc	p.S446T		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	446	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S446T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGAATACCTCTCCTACGACTC	0.562																																																1	Substitution - Missense(1)	kidney(1)											119	106	110					11																	130066577		2201	4297	6498	SO:0001583	missense	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1336T>A	11.37:g.130066577T>A	ENSP00000278742:p.Ser446Thr		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.819098	0.50633	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.20332	2.08	5.04	5.04	0.67666	CUB (3);	0.000000	0.37715	N	0.001968	T	0.28234	0.0697	L	0.55990	1.75	0.50813	D	0.999898	P;P	0.52316	0.952;0.745	P;B	0.49477	0.612;0.231	T	0.02942	-1.1091	10	0.20046	T	0.44	.	14.4616	0.67453	0.0:0.0:0.0:1.0	.	256;446	B4DYI7;Q9Y5Y6	.;ST14_HUMAN	T	446;348	ENSP00000278742:S446T	ENSP00000278742:S446T	S	+	1	0	ST14	129571787	1.000000	0.71417	0.937000	0.37676	0.574000	0.36063	2.871000	0.48459	1.896000	0.54893	0.459000	0.35465	TCC		0.562	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			A	130066577	T	A	130066577	3	1	435	1	0	0	0	0	1	0	0	0	15216	1551	54	5	1378	5	ST14	11	130066577	Missense_Mutation	SNP	T	TCGA-BP-5186-01A-01D-1429-08	35334592	130066577	4939939	19	23866											
EMG1	10436	hgsc.bcm.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs60117710|rs374779752|rs200041551		TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		18008	1.0		1.0	False		,,,				2504	1.0															0										3732,16		1865,2,7						3	1		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436			U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG				Frame_Shift_Ins	INS	ENST00000261406.6	37																																																																																					0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	G	7080211	-	G	7080210	8	5	435	1	0	1	1	0	0	0	1	0	5092	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-BP-5186-01A-01D-1429-08		7080210	126771685	20	23867											
FZD10	11211	broad.mit.edu;hgsc.bcm.edu	37	12	130648146	130648146	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr12:130648146G>A	ENST00000229030.4	+	1	1143	c.659G>A	c.(658-660)aGc>aAc	p.S220N	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Silent_p.E187E			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	220					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S220N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GTGTACTGGAGCCGCGAGGAC	0.692																																																1	Substitution - Missense(1)	kidney(1)											58	47	51					12																	130648146		2203	4300	6503	SO:0001583	missense	11211			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.659G>A	12.37:g.130648146G>A	ENSP00000229030:p.Ser220Asn			Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835963	0.71373	.	.	ENSG00000111432	ENST00000229030	D	0.82803	-1.65	5.26	3.44	0.39384	.	0.050614	0.85682	U	0.000000	T	0.81597	0.4856	M	0.64404	1.975	0.52099	D	0.999941	B	0.24092	0.097	B	0.32342	0.144	T	0.77935	-0.2401	10	0.62326	D	0.03	.	11.7902	0.52065	0.1421:0.0:0.8579:0.0	.	220	Q9ULW2	FZD10_HUMAN	N	220	ENSP00000229030:S220N	ENSP00000229030:S220N	S	+	2	0	FZD10	129214099	1.000000	0.71417	0.962000	0.40283	0.997000	0.91878	7.845000	0.86875	0.601000	0.29879	0.561000	0.74099	AGC		0.692	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	130648146	G	A	130648146	3	1	435	1	0	0	0	0	1	0	0	0	6131	971	34	2	661	2	FZD10	12	130648146	Missense_Mutation	SNP	G	TCGA-BP-5186-01A-01D-1429-08	123567936	130648146	3203749	21	23868											
CSNK1A1L	122011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	37678647	37678647	+	Silent	SNP	A	A	G			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr13:37678647A>G	ENST00000379800.3	-	1	1156	c.747T>C	c.(745-747)tgT>tgC	p.C249C		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C249C(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GAAACCCCTTACATAAAACTT	0.453																																																1	Substitution - coding silent(1)	kidney(1)											122	121	122					13																	37678647		2203	4300	6503	SO:0001819	synonymous_variant	122011			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.747T>C	13.37:g.37678647A>G			Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																				0.453	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		G	37678647	A	G	37678647	2	3	435	1	0	0	0	0	0	0	0	1	3953	389	14	3		3	CSNK1A1L	13	37678647	Silent	SNP	A	TCGA-BP-5186-01A-01D-1429-08		37678647	77491231	22	23869											
DACT1	51339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59113389	59113389	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr14:59113389C>A	ENST00000335867.4	+	4	2072	c.2048C>A	c.(2047-2049)gCc>gAc	p.A683D	DACT1_ENST00000541264.2_Missense_Mutation_p.A402D|DACT1_ENST00000395153.3_Missense_Mutation_p.A646D|DACT1_ENST00000556859.1_Missense_Mutation_p.A402D			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	683					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.A683D(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAGTCCTCGGCCGAGATTTCC	0.701																																																1	Substitution - Missense(1)	kidney(1)											13	14	14					14																	59113389		2171	4265	6436	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2048C>A	14.37:g.59113389C>A	ENSP00000337439:p.Ala683Asp		A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862387	0.51482	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.63	4.74	0.60224	.	0.177981	0.49305	D	0.000156	T	0.68540	0.3012	M	0.74258	2.255	0.25110	N	0.990729	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.962	T	0.65813	-0.6077	10	0.72032	D	0.01	-19.9519	16.6668	0.85255	0.0:0.8702:0.1298:0.0	.	646;683	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	D	402;402;646;683;402	ENSP00000451598:A402D;ENSP00000378581:A402D;ENSP00000378582:A646D;ENSP00000337439:A683D;ENSP00000442850:A402D	ENSP00000337439:A683D	A	+	2	0	DACT1	58183142	0.128000	0.22383	0.111000	0.21465	0.613000	0.37349	1.072000	0.30678	1.365000	0.46057	0.563000	0.77884	GCC		0.701	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		A	59113389	C	A	59113389	3	1	435	1	0	0	0	0	1	0	0	0	4224	739	26	4	2062	4	DACT1	14	59113389	Missense_Mutation	SNP	C	TCGA-BP-5186-01A-01D-1429-08		59113389	48236151	23	23870											
SIX1	6495	hgsc.bcm.edu	37	14	61113204	61113204	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr14:61113204C>T	ENST00000247182.6	-	2	924	c.652G>A	c.(652-654)Gag>Aag	p.E218K	SIX1_ENST00000554986.1_Missense_Mutation_p.E45K	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	218					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		GAGAATTCCTCTTCTGAGCTG	0.532																																																0													105	93	97					14																	61113204		2203	4300	6503	SO:0001583	missense	6495			X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"Homeoboxes / SINE class"	10887	protein-coding gene	gene with protein product		601205	"sine oculis homeobox (Drosophila) homolog 1", "sine oculis homeobox homolog 1 (Drosophila)", "deafness, autosomal dominant 23"	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.652G>A	14.37:g.61113204C>T	ENSP00000247182:p.Glu218Lys		Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	C	36	5.762504	0.96906	.	.	ENSG00000126778	ENST00000247182;ENST00000555955;ENST00000553535	D;D;D	0.87334	-2.18;-2.24;-2.24	5.19	5.19	0.71726	.	0.047554	0.85682	D	0.000000	T	0.78748	0.4332	N	0.19112	0.55	0.58432	D	0.999998	B	0.20887	0.049	B	0.16289	0.015	T	0.72984	-0.4125	10	0.12430	T	0.62	-15.8859	18.9138	0.92496	0.0:1.0:0.0:0.0	.	218	Q15475	SIX1_HUMAN	K	218;34;34	ENSP00000247182:E218K;ENSP00000450952:E34K;ENSP00000450739:E34K	ENSP00000247182:E218K	E	-	1	0	SIX1	60182957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.695000	0.91970	0.655000	0.94253	GAG		0.532	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			T	61113204	C	T	61113204	3	4	435	1	0	0	0	0	1	0	0	0	14352	922	32	2	206	2	SIX1	14	61113204	Missense_Mutation	SNP	C	TCGA-BP-5186-01A-01D-1429-08	1999815	61113204	46236336	24	23871											
ACACA	31	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35545400	35545400	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr17:35545400G>T	ENST00000394406.2	-	39	4672	c.4482C>A	c.(4480-4482)agC>agA	p.S1494R	ACACA_ENST00000335166.5_Missense_Mutation_p.S1416R|ACACA_ENST00000360679.3_Missense_Mutation_p.S1436R|ACACA_ENST00000353139.5_Missense_Mutation_p.S1531R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1494					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.S1436R(1)|p.S1531R(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCATTACCATGCTCCGCACGG	0.458																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											2	Substitution - Missense(2)	kidney(2)											141	131	134					17																	35545400		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4482C>A	17.37:g.35545400G>T	ENSP00000377928:p.Ser1494Arg		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619510	0.46736	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.6	4.63	0.57726	Acetyl-CoA carboxylase, central domain (1);	0.203924	0.52532	D	0.000080	T	0.40297	0.1111	M	0.65975	2.015	0.80722	D	1	B;B;B;B	0.22211	0.066;0.021;0.011;0.021	B;B;B;B	0.23716	0.048;0.034;0.024;0.014	T	0.29458	-1.0011	10	0.38643	T	0.18	-17.5067	9.9396	0.41572	0.1528:0.0:0.8472:0.0	.	242;1531;1494;1436	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	R	1531;1436;1494;1518;1416;242	ENSP00000344789:S1531R;ENSP00000353898:S1436R;ENSP00000377928:S1494R;ENSP00000335323:S1416R	ENSP00000335323:S1416R	S	-	3	2	ACACA	32619513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.092000	0.57707	2.630000	0.89119	0.655000	0.94253	AGC		0.458	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		T	35545400	G	T	35545400	3	4	435	1	0	0	0	0	1	0	0	0	106	1310	46	4	2630	4	ACACA	17	35545400	Missense_Mutation	SNP	G	TCGA-BP-5186-01A-01D-1429-08		35545400	45649810	25	23872											
KRTAP4-9	100132386	broad.mit.edu	37	17	39261865	39261865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr17:39261865C>A	ENST00000391415.1	+	1	282	c.225C>A	c.(223-225)tgC>tgA	p.C75*		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	75	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].		Missing (in allele KAP.9-v1).		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C75*(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCACCTGTTGCAGGACCACCT	0.647																																																1	Substitution - Nonsense(1)	kidney(1)											18	26	24					17																	39261865		689	1590	2279	SO:0001587	stop_gained	100132386			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.225C>A	17.37:g.39261865C>A	ENSP00000375234:p.Cys75*			Nonsense_Mutation	SNP	ENST00000391415.1	37	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.293798	0.60086	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	.	.	.	1.69	1.69	0.24217	.	0.000000	0.43579	U	0.000541	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4129	0.38503	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000334461:C75X	C	+	3	2	KRTAP4-9	36515391	0.042000	0.20092	0.003000	0.11579	0.584000	0.36387	0.202000	0.17295	1.265000	0.44215	0.306000	0.20318	TGC		0.647	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		A	39261865	C	A	39261865	4	1	435	1	0	0	0	0	0	1	0	0	8559	718	25	4	227	4	KRTAP4-9	17	39261865	Nonsense_Mutation	SNP	C	TCGA-BP-5186-01A-01D-1429-08	3716465	39261865	41933345	26	23873											
ATG4D	84971	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10663721	10663721	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr19:10663721C>A	ENST00000309469.4	+	10	1576	c.1403C>A	c.(1402-1404)tCt>tAt	p.S468Y	ATG4D_ENST00000540862.1_Missense_Mutation_p.S135Y|MIR1238_ENST00000408483.1_RNA|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	468					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.S468Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGCCCCAGCTCTGAGGACTTT	0.547																																																1	Substitution - Missense(1)	kidney(1)											31	35	33					19																	10663721		2203	4300	6503	SO:0001583	missense	84971			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1403C>A	19.37:g.10663721C>A	ENSP00000311318:p.Ser468Tyr		Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073716	0.76415	.	.	ENSG00000130734	ENST00000309469;ENST00000540862	.	.	.	5.49	5.49	0.81192	.	0.320346	0.32918	N	0.005495	T	0.72977	0.3528	L	0.59436	1.845	0.49483	D	0.999791	P;D	0.58970	0.882;0.984	P;P	0.56700	0.534;0.804	T	0.75422	-0.3323	9	0.72032	D	0.01	-12.5461	18.1314	0.89603	0.0:1.0:0.0:0.0	.	405;468	B4DGM8;Q86TL0	.;ATG4D_HUMAN	Y	468;135	.	ENSP00000311318:S468Y	S	+	2	0	ATG4D	10524721	0.998000	0.40836	1.000000	0.80357	0.601000	0.36947	3.808000	0.55598	2.586000	0.87340	0.655000	0.94253	TCT		0.547	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		A	10663721	C	A	10663721	3	1	435	1	0	0	0	0	1	0	0	0	1099	913	32	4	1441	4	ATG4D	19	10663721	Missense_Mutation	SNP	C	TCGA-BP-5186-01A-01D-1429-08		10663721	48465262	27	23874											
FCGBP	8857	broad.mit.edu;hgsc.bcm.edu	37	19	40420153	40420153	+	Silent	SNP	G	G	C			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr19:40420153G>C	ENST00000221347.6	-	6	2848	c.2841C>G	c.(2839-2841)gtC>gtG	p.V947V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	947	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.V947V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GATACTGAAGGACGTCATCCA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											37	35	36					19																	40420153		2203	4299	6502	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2841C>G	19.37:g.40420153G>C			O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		C	40420153	G	C	40420153	2	2	435	1	0	0	0	0	0	0	0	1	5780	1161	41	4		4	FCGBP	19	40420153	Silent	SNP	G	TCGA-BP-5186-01A-01D-1429-08	29756432	40420153	18708830	28	23875											
CLPTM1	1209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45465320	45465320	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr19:45465320G>A	ENST00000337392.5	+	2	323	c.173G>A	c.(172-174)gGt>gAt	p.G58D	CLPTM1_ENST00000546079.1_5'UTR|CLPTM1_ENST00000541297.2_Missense_Mutation_p.G44D	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	58					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.G58D(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GTCATCAAAGGTGTGCTGTTT	0.547																																																2	Substitution - Missense(2)	kidney(2)											52	50	51					19																	45465320		2195	4298	6493	SO:0001583	missense	1209			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.173G>A	19.37:g.45465320G>A	ENSP00000336994:p.Gly58Asp		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335892	0.81801	.	.	ENSG00000104853	ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	M	0.65498	2.005	0.58432	D	0.999998	D;D	0.55800	0.967;0.973	P;P	0.58721	0.758;0.844	T	0.74668	-0.3588	9	0.56958	D	0.05	-44.6437	14.4408	0.67314	0.0:0.0:1.0:0.0	.	44;58	F5H8J3;O96005	.;CLPT1_HUMAN	D	44;58;58	.	ENSP00000336994:G58D	G	+	2	0	CLPTM1	50157160	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.088000	0.64486	2.777000	0.95525	0.549000	0.68633	GGT		0.547	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		A	45465320	G	A	45465320	3	1	435	1	0	0	0	0	1	0	0	0	3556	1261	44	2	179	2	CLPTM1	19	45465320	Missense_Mutation	SNP	G	TCGA-BP-5186-01A-01D-1429-08	5045167	45465320	13663663	29	23876											
SLC1A5	6510	broad.mit.edu;hgsc.bcm.edu	37	19	47285647	47285647	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr19:47285647T>C	ENST00000542575.2	-	4	1445	c.817A>G	c.(817-819)Atc>Gtc	p.I273V	SLC1A5_ENST00000412532.2_Missense_Mutation_p.I45V|SLC1A5_ENST00000594991.1_Missense_Mutation_p.I97V|SLC1A5_ENST00000434726.2_Missense_Mutation_p.I71V	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	273					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)	p.I273V(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TACCACATGATCCAGGAGACC	0.622																																																1	Substitution - Missense(1)	kidney(1)											68	64	65					19																	47285647		2203	4300	6503	SO:0001583	missense	6510			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.817A>G	19.37:g.47285647T>C	ENSP00000444408:p.Ile273Val		A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527848	0.44969	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.55234	0.53;0.53;0.53	5.23	5.23	0.72850	.	0.107037	0.64402	D	0.000007	T	0.41719	0.1171	L	0.31294	0.92	0.53005	D	0.999967	P;B;B	0.35982	0.531;0.139;0.139	B;B;B	0.34931	0.192;0.122;0.122	T	0.37888	-0.9686	10	0.41790	T	0.15	-22.8124	14.163	0.65459	0.0:0.0:0.0:1.0	.	71;273;273	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	V	273;71;45;280	ENSP00000444408:I273V;ENSP00000406532:I71V;ENSP00000397924:I45V	ENSP00000303623:I280V	I	-	1	0	SLC1A5	51977487	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.960000	0.87893	1.996000	0.58369	0.456000	0.33151	ATC		0.622	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			C	47285647	T	C	47285647	3	2	435	1	0	0	0	0	1	0	0	0	14441	1435	50	3	828	3	SLC1A5	19	47285647	Missense_Mutation	SNP	T	TCGA-BP-5186-01A-01D-1429-08	1820327	47285647	11843336	30	23877											
RIN2	54453	hgsc.bcm.edu;ucsc.edu	37	20	19955468	19955468	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr20:19955468G>T	ENST00000255006.6	+	8	1095	c.946G>T	c.(946-948)Ggg>Tgg	p.G316W	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	267					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.G316W(1)|p.G267W(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCAGACCAACGGGGCCCTGTG	0.557																																																2	Substitution - Missense(2)	kidney(2)											65	71	69					20																	19955468		1935	4114	6049	SO:0001583	missense	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.946G>T	20.37:g.19955468G>T	ENSP00000255006:p.Gly316Trp		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711051	0.68730	.	.	ENSG00000132669	ENST00000255006	T	0.27402	1.67	5.44	4.48	0.54585	.	0.173050	0.50627	D	0.000109	T	0.54743	0.1877	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.56872	-0.7907	9	.	.	.	-5.6604	15.7583	0.78054	0.0:0.1372:0.8628:0.0	.	267	Q8WYP3	RIN2_HUMAN	W	316	ENSP00000255006:G316W	.	G	+	1	0	RIN2	19903468	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.762000	0.85270	1.267000	0.44247	0.655000	0.94253	GGG		0.557	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			T	19955468	G	T	19955468	3	4	435	1	0	0	0	0	1	0	0	0	13378	1116	39	4	825	4	RIN2	20	19955468	Missense_Mutation	SNP	G	TCGA-BP-5186-01A-01D-1429-08		19955468	43070052	31	23878											
ZMYND8	23613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	45853096	45853096	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr20:45853096T>C	ENST00000311275.7	-	19	3323	c.3070A>G	c.(3070-3072)Aag>Gag	p.K1024E	ZMYND8_ENST00000396281.4_Missense_Mutation_p.K1024E|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K1044E|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K915E|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K978E|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K972E|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K998E|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K946E|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K1024E|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K973E|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K892E|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K1051E|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K998E	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1024					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.K998E(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CACTGCTTCTTCTTGGTCTCA	0.592																																																1	Substitution - Missense(1)	kidney(1)											237	192	207					20																	45853096		2203	4300	6503	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3070A>G	20.37:g.45853096T>C	ENSP00000312237:p.Lys1024Glu		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.1|28.1	4.888097|4.888097	0.91814|0.91814	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.57436	.|0.52;0.52;0.52;0.4;0.4;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73329|0.73329	0.3573|0.3573	M|M	0.78637|0.78637	2.42|2.42	0.53005|0.53005	D|D	0.999966|0.999966	.|D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D	.|0.76494	.|0.997;0.999;0.997;0.998;0.999;0.998;0.999;0.998;0.998;0.997;0.997;0.997;0.892;0.987;0.998;0.997	.|D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D	.|0.87578	.|0.985;0.998;0.995;0.991;0.998;0.998;0.996;0.996;0.998;0.995;0.995;0.995;0.613;0.97;0.991;0.995	T|T	0.77286|0.77286	-0.2644|-0.2644	5|10	.|0.72032	.|D	.|0.01	-14.8364|-14.8364	15.543|15.543	0.76070|0.76070	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|892;1051;946;953;1044;978;973;998;998;1024;915;973;972;917;926;1024	.|B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	G|E	905|973;1024;892;979;1045;998;1024;1051;1024;915;998;946;972	.|ENSP00000354166:K973E;ENSP00000312237:K1024E;ENSP00000392964:K892E;ENSP00000262975:K979E;ENSP00000420095:K1045E;ENSP00000335537:K998E;ENSP00000379577:K1024E;ENSP00000439800:K1051E;ENSP00000348246:K1024E;ENSP00000396725:K915E;ENSP00000418210:K998E;ENSP00000361093:K946E;ENSP00000443086:K972E	.|ENSP00000262975:K979E	E|K	-|-	2|1	0|0	ZMYND8|ZMYND8	45286503|45286503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.988000|7.988000	0.88194|0.88194	2.060000|2.060000	0.61445|0.61445	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.592	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		C	45853096	T	C	45853096	3	2	435	1	0	0	0	0	1	0	0	0	17716	1792	62	3	594	3	ZMYND8	20	45853096	Missense_Mutation	SNP	T	TCGA-BP-5186-01A-01D-1429-08	25897628	45853096	17172424	32	23879											
NUP50	10762	broad.mit.edu;hgsc.bcm.edu	37	22	45574718	45574718	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chr22:45574718T>G	ENST00000347635.4	+	5	1406	c.940T>G	c.(940-942)Tct>Gct	p.S314A	NUP50_ENST00000396096.2_Missense_Mutation_p.S286A|NUP50_ENST00000407019.2_Missense_Mutation_p.S286A|CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000425733.2_Missense_Mutation_p.S64A	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	314	Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S314A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TAAACCAGTCTCTTCACCATT	0.463																																																1	Substitution - Missense(1)	kidney(1)											54	51	52					22																	45574718		2200	4296	6496	SO:0001583	missense	10762			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"nucleoporin 50kD"	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.940T>G	22.37:g.45574718T>G	ENSP00000345895:p.Ser314Ala		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814949	0.32053	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096	.	.	.	5.26	-2.78	0.05859	.	0.886299	0.09866	N	0.745537	T	0.28101	0.0693	L	0.60455	1.87	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.34428	-0.9829	9	0.15952	T	0.53	-2.3389	0.4935	0.00567	0.237:0.2802:0.2209:0.2619	.	64;314	B4E2D3;Q9UKX7	.;NUP50_HUMAN	A	314;286;64;286	.	ENSP00000345895:S314A	S	+	1	0	NUP50	43953382	0.000000	0.05858	0.000000	0.03702	0.476000	0.33039	-0.592000	0.05747	-0.915000	0.03823	0.533000	0.62120	TCT		0.463	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			G	45574718	T	G	45574718	3	3	435	1	0	0	0	0	1	0	0	0	10768	1551	54	5	954	5	NUP50	22	45574718	Missense_Mutation	SNP	T	TCGA-BP-5186-01A-01D-1429-08		45574718	5729848	33	23880											
USP51	158880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	55513238	55513238	+	Nonstop_Mutation	SNP	T	T	A			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chrX:55513238T>A	ENST00000500968.3	-	2	2217	c.2135A>T	c.(2134-2136)tAg>tTg	p.*712L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	0					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.*712L(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CTGGTAAGACTAGTCTTTCTC	0.403																																																1	Nonstop extension(1)	kidney(1)											60	50	53					X																	55513238		2203	4300	6503	SO:0001578	stop_lost	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.2135A>T	X.37:g.55513238T>A			Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	9.036	0.988535	0.18966	.	.	ENSG00000247746	ENST00000500968	.	.	.	2.88	2.88	0.33553	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6549	0.34058	0.0:0.0:0.0:1.0	.	.	.	.	L	712	.	.	X	-	2	0	USP51	55529963	1.000000	0.71417	0.812000	0.32479	0.947000	0.59692	2.609000	0.46317	1.387000	0.46486	0.408000	0.27601	TAG		0.403	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		A	55513238	T	A	55513238	4	1	435	1	0	0	0	0	0	0	0	0	17088	1535	53	5	4	5	USP51	23	55513238	Nonstop_Mutation	SNP	T	TCGA-BP-5186-01A-01D-1429-08		55513238	99757322	34	23881											
SLC10A3	8273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153716013	153716013	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5186-01A-01D-1429-08	TCGA-BP-5186-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02b98f85-07df-4fb2-b27e-efd368c84ec8	f874ff04-d379-4de4-9a87-c04c045a70ca	g.chrX:153716013C>G	ENST00000393587.4	-	3	1530	c.1267G>C	c.(1267-1269)Gtg>Ctg	p.V423L	SLC10A3_ENST00000263512.4_Missense_Mutation_p.V423L|SLC10A3_ENST00000393586.1_Missense_Mutation_p.V478L|UBL4A_ENST00000369660.4_5'Flank|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.V394L|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	423					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.V423L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGTTCTGCACCCCTACCTCA	0.642																																																1	Substitution - Missense(1)	kidney(1)											57	47	50					X																	153716013		2203	4300	6503	SO:0001583	missense	8273			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.1267G>C	X.37:g.153716013C>G	ENSP00000377212:p.Val423Leu		Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118243	0.56505	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587	T;T;T;T	0.08720	3.15;3.06;3.08;3.08	5.4	4.53	0.55603	.	0.085351	0.46442	U	0.000293	T	0.06735	0.0172	N	0.16037	0.36	0.47905	D	0.99954	P;P	0.45672	0.864;0.776	B;B	0.42851	0.4;0.4	T	0.33394	-0.9870	10	0.59425	D	0.04	-7.4072	12.5398	0.56163	0.0:0.9136:0.0:0.0864	.	394;423	Q9BSL2;P09131	.;P3_HUMAN	L	394;478;423;423	ENSP00000358663:V394L;ENSP00000377211:V478L;ENSP00000263512:V423L;ENSP00000377212:V423L	ENSP00000263512:V423L	V	-	1	0	SLC10A3	153369207	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	3.209000	0.51122	2.244000	0.73946	0.513000	0.50165	GTG		0.642	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		G	153716013	C	G	153716013	3	3	435	1	0	0	0	0	1	0	0	0	14381	507	18	4	170	4	SLC10A3	23	153716013	Missense_Mutation	SNP	C	TCGA-BP-5186-01A-01D-1429-08	98202775	153716013	1554547	35	23882											
ALPL	249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21903878	21903878	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr1:21903878C>T	ENST00000374840.3	+	12	1562	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y	ALPL_ENST00000374829.1_Missense_Mutation_p.H84Y|ALPL_ENST00000540617.1_Missense_Mutation_p.H383Y|ALPL_ENST00000374830.1_Missense_Mutation_p.H84Y|ALPL_ENST00000425315.2_Missense_Mutation_p.H438Y|ALPL_ENST00000374832.1_Missense_Mutation_p.H438Y|ALPL_ENST00000539907.1_Missense_Mutation_p.H361Y	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	438					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.H438Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GCCCACAGCTCACAACAACTA	0.667																																																1	Substitution - Missense(1)	kidney(1)											43	45	45					1																	21903878		2201	4292	6493	SO:0001583	missense	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1312C>T	1.37:g.21903878C>T	ENSP00000363973:p.His438Tyr		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	CCDS217.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.870584	0.51588	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83;-3.83;-3.83	4.59	4.59	0.56863	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.109644	0.64402	D	0.000007	D	0.94522	0.8236	L	0.49126	1.545	0.41849	D	0.990168	B;P;P	0.47962	0.014;0.829;0.903	B;P;P	0.47346	0.038;0.53;0.544	D	0.95234	0.8345	10	0.72032	D	0.01	-7.952	14.9591	0.71141	0.0:1.0:0.0:0.0	.	361;386;438	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	Y	361;383;438;438;438;84;84	ENSP00000437674:H361Y;ENSP00000442672:H383Y;ENSP00000363973:H438Y;ENSP00000363965:H438Y;ENSP00000394765:H438Y;ENSP00000363963:H84Y;ENSP00000363962:H84Y	ENSP00000363962:H84Y	H	+	1	0	ALPL	21776465	0.584000	0.26766	1.000000	0.80357	0.982000	0.71751	0.584000	0.23864	2.392000	0.81423	0.556000	0.70494	CAC		0.667	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		T	21903878	C	T	21903878	3	4	436	1	0	0	0	0	1	0	0	0	547	826	29	2	1354	2	ALPL	1	21903878	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08		21903878	227346743	1	23883											
BSND	7809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	55474113	55474113	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr1:55474113T>A	ENST00000371265.4	+	4	1029	c.775T>A	c.(775-777)Tgg>Agg	p.W259R		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	259					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.W259R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GGGGCAGCAGTGGGAAATAGC	0.597																																					Ovarian(191;1657 2078 22894 42033 48899)											1	Substitution - Missense(1)	kidney(1)											59	59	59					1																	55474113		2203	4300	6503	SO:0001583	missense	7809			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.775T>A	1.37:g.55474113T>A	ENSP00000360312:p.Trp259Arg		Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	CCDS602.1	.	.	.	.	.	.	.	.	.	.	T	1.291	-0.607633	0.03717	.	.	ENSG00000162399	ENST00000371265	D	0.85955	-2.05	4.72	-0.886	0.10590	.	2.086490	0.01992	N	0.045607	T	0.61825	0.2378	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62220	-0.6900	10	0.06494	T	0.89	0.1806	5.5173	0.16914	0.0:0.4708:0.1332:0.3961	.	259	Q8WZ55	BSND_HUMAN	R	259	ENSP00000360312:W259R	ENSP00000360312:W259R	W	+	1	0	BSND	55246701	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-0.618000	0.05578	-0.187000	0.10516	-0.355000	0.07637	TGG		0.597	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		A	55474113	T	A	55474113	3	1	436	1	0	0	0	0	1	0	0	0	1533	1696	59	5	789	5	BSND	1	55474113	Missense_Mutation	SNP	T	TCGA-BP-5187-01A-01D-1429-08	33570235	55474113	193776508	2	23884											
CLCC1	23155	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109477333	109477333	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr1:109477333C>T	ENST00000369971.2	-	11	1744	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	CLCC1_ENST00000348264.2_Missense_Mutation_p.G354R|CLCC1_ENST00000369970.3_Missense_Mutation_p.G489R|CLCC1_ENST00000415331.1_Missense_Mutation_p.G489R|CLCC1_ENST00000356970.2_Missense_Mutation_p.G539R|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.G354R|CLCC1_ENST00000369969.2_Missense_Mutation_p.G418R|CLCC1_ENST00000302500.4_Missense_Mutation_p.G418R	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	539						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)	p.G489R(1)|p.G539R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCACGTGGTCCAGCCACACCT	0.577																																																2	Substitution - Missense(2)	kidney(2)											91	82	85					1																	109477333		2203	4300	6503	SO:0001583	missense	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1615G>A	1.37:g.109477333C>T	ENSP00000358988:p.Gly539Arg		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183518	0.38609	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	5.37	-0.0897	0.13667	.	1.158390	0.06442	N	0.726119	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.11235	0.004;0.004;0.002;0.003	B;B;B;B	0.10450	0.004;0.003;0.003;0.005	T	0.20075	-1.0286	10	0.13853	T	0.58	0.0967	5.1276	0.14894	0.0:0.4751:0.2775:0.2475	.	354;418;489;539	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	R	539;539;489;418;354;489;354;418	ENSP00000349456:G539R;ENSP00000358988:G539R;ENSP00000411591:G489R;ENSP00000358986:G418R;ENSP00000358985:G354R;ENSP00000358987:G489R;ENSP00000337243:G354R;ENSP00000306552:G418R	ENSP00000306552:G418R	G	-	1	0	CLCC1	109278856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.001000	0.12947	-0.021000	0.14009	-0.136000	0.14681	GGA		0.577	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		T	109477333	C	T	109477333	3	4	436	1	0	0	0	0	1	0	0	0	3462	603	21	2	44	2	CLCC1	1	109477333	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	54003220	109477333	139773288	3	23885											
DENND4B	9909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153916542	153916542	+	Silent	SNP	A	A	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr1:153916542A>T	ENST00000361217.4	-	2	727	c.309T>A	c.(307-309)gtT>gtA	p.V103V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	103	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V103V(1)|p.L55*(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCCCAGCTCAACGAGGGGGG	0.632																																																2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)											26	30	29					1																	153916542		1902	4107	6009	SO:0001819	synonymous_variant	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.309T>A	1.37:g.153916542A>T			Q5T4K0	Silent	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.398760	0.25291	.	.	ENSG00000198837	ENST00000472932	.	.	.	4.7	-0.897	0.10553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.0749	5.5841	0.17266	0.2247:0.5757:0.0787:0.1209	.	.	.	.	R	9	.	.	X	-	1	0	DENND4B	152183166	0.000000	0.05858	0.996000	0.52242	0.961000	0.63080	-2.134000	0.01307	-0.362000	0.08113	-0.728000	0.03583	TGA		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		T	153916542	A	T	153916542	2	4	436	1	0	0	0	0	0	0	0	1	4436	117	5	5		5	DENND4B	1	153916542	Silent	SNP	A	TCGA-BP-5187-01A-01D-1429-08	44439209	153916542	95334079	4	23886											
IQGAP3	128239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156498730	156498730	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr1:156498730C>T	ENST00000361170.2	-	35	4559	c.4549G>A	c.(4549-4551)Gac>Aac	p.D1517N	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1517					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.D1517N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCAGGTGGTCCAGGCAGGCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											94	93	93					1																	156498730		2203	4300	6503	SO:0001583	missense	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4549G>A	1.37:g.156498730C>T	ENSP00000354451:p.Asp1517Asn		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212380	0.58452	.	.	ENSG00000183856	ENST00000361170	T	0.44881	0.91	4.41	2.52	0.30459	RasGAP protein, C-terminal (1);	0.181882	0.45606	D	0.000354	T	0.21921	0.0528	M	0.62088	1.915	0.42471	D	0.992823	B	0.10296	0.003	B	0.10450	0.005	T	0.07888	-1.0749	10	0.42905	T	0.14	-3.9182	9.5583	0.39353	0.0:0.8348:0.0:0.1652	.	1517	Q86VI3	IQGA3_HUMAN	N	1517	ENSP00000354451:D1517N	ENSP00000354451:D1517N	D	-	1	0	IQGAP3	154765354	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	3.002000	0.49496	0.609000	0.30018	0.491000	0.48974	GAC		0.577	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		T	156498730	C	T	156498730	3	4	436	1	0	0	0	0	1	0	0	0	7818	855	30	2	362	2	IQGAP3	1	156498730	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	2582188	156498730	92751891	5	23887											
FMO2	2327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171173043	171173043	+	Missense_Mutation	SNP	C	C	A	rs574231506		TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr1:171173043C>A	ENST00000209929.7	+	6	825	c.667C>A	c.(667-669)Cgt>Agt	p.R223S	RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.R223S|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	223					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.R223S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTCATGAGCCGTATCTCTGA	0.473																																																1	Substitution - Missense(1)	kidney(1)											127	99	108					1																	171173043		2203	4300	6503	SO:0001583	missense	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.667C>A	1.37:g.171173043C>A	ENSP00000209929:p.Arg223Ser		Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206539	0.58343	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.63096	-0.02;-0.02	6.13	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	H	0.96777	3.88	0.49483	D	0.999792	D	0.89917	1.0	D	0.97110	1.0	D	0.89211	0.3564	10	0.87932	D	0	-10.755	14.7146	0.69257	0.2635:0.7365:0.0:0.0	.	223	Q99518	FMO2_HUMAN	S	223	ENSP00000209929:R223S;ENSP00000405905:R223S	ENSP00000209929:R223S	R	+	1	0	FMO2	169439667	0.999000	0.42202	0.446000	0.26920	0.059000	0.15707	4.290000	0.59019	1.580000	0.49851	0.650000	0.86243	CGT		0.473	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		A	171173043	C	A	171173043	3	1	436	1	0	0	0	0	1	0	0	0	5957	652	23	4	685	4	FMO2	1	171173043	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	14674313	171173043	78077578	6	23888											
THADA	63892	broad.mit.edu	37	2	43571338	43571338	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr2:43571338G>C	ENST00000405006.4	-	30	4617	c.4266C>G	c.(4264-4266)caC>caG	p.H1422Q	THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.H1422Q|THADA_ENST00000415080.2_Missense_Mutation_p.H1103Q|THADA_ENST00000485353.1_5'UTR	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1422								p.H1422Q(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AATTCGTTCCGTGTTTGGAGT	0.403																																																1	Substitution - Missense(1)	kidney(1)											80	72	75					2																	43571338		1914	4131	6045	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4266C>G	2.37:g.43571338G>C	ENSP00000385995:p.His1422Gln		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.43|12.43	1.936840|1.936840	0.34189|0.34189	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.11277|.	2.97;2.79;2.97|.	4.8|4.8	3.93|3.93	0.45458|0.45458	.|.	0.476170|.	0.22358|.	N|.	0.061112|.	T|T	0.32734|0.32734	0.0839|0.0839	L|L	0.27053|0.27053	0.805|0.805	0.27836|0.27836	N|N	0.941273|0.941273	B;B;B|.	0.18166|.	0.026;0.013;0.01|.	B;B;B|.	0.17979|.	0.02;0.011;0.011|.	T|T	0.19321|0.19321	-1.0309|-1.0309	10|5	0.16420|.	T|.	0.52|.	-16.6187|-16.6187	9.2863|9.2863	0.37760|0.37760	0.083:0.1854:0.7316:0.0|0.083:0.1854:0.7316:0.0	.|.	1349;1103;1422|.	B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;THADA_HUMAN|.	Q|R	1422;1349;1103;1422|662	ENSP00000386088:H1422Q;ENSP00000416048:H1103Q;ENSP00000385995:H1422Q|.	ENSP00000349464:H1349Q|.	H|T	-|-	3|2	2|0	THADA|THADA	43424842|43424842	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.913000|0.913000	0.54294|0.54294	1.654000|1.654000	0.37334|0.37334	1.260000|1.260000	0.44134|0.44134	-0.203000|-0.203000	0.12734|0.12734	CAC|ACG		0.403	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		C	43571338	G	C	43571338	3	2	436	1	0	0	0	0	1	0	0	0	15845	1136	40	4	1631	4	THADA	2	43571338	Missense_Mutation	SNP	G	TCGA-BP-5187-01A-01D-1429-08		43571338	199628035	7	23889											
TTC7A	57217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	47221561	47221561	+	Silent	SNP	C	C	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr2:47221561C>A	ENST00000319190.5	+	7	1277	c.909C>A	c.(907-909)ccC>ccA	p.P303P	TTC7A_ENST00000394850.2_Silent_p.P303P|TTC7A_ENST00000409245.1_Silent_p.P269P|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	303					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)			p.P303P(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACTGGAGCCCCCTGTCCCACC	0.612																																																1	Substitution - coding silent(1)	kidney(1)											77	76	76					2																	47221561		2203	4300	6503	SO:0001819	synonymous_variant	57217			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.909C>A	2.37:g.47221561C>A			Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	CCDS33193.1																																																																																				0.612	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		A	47221561	C	A	47221561	2	1	436	1	0	0	0	0	0	0	0	1	16717	610	22	4		4	TTC7A	2	47221561	Silent	SNP	C	TCGA-BP-5187-01A-01D-1429-08	3650223	47221561	195977812	8	23890											
SUCLG1	8802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	84652566	84652566	+	Silent	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr2:84652566A>G	ENST00000393868.2	-	8	1197	c.987T>C	c.(985-987)ccT>ccC	p.P329P	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	329					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.P329P(1)		kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CCAGCTGTGCAGGAGACATAC	0.542																																					Ovarian(48;203 1101 37206 40305 50790)											1	Substitution - coding silent(1)	kidney(1)											102	91	95					2																	84652566		2203	4300	6503	SO:0001819	synonymous_variant	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.987T>C	2.37:g.84652566A>G			Q9BWB0|Q9UNP6	Silent	SNP	ENST00000393868.2	37	CCDS1967.2																																																																																				0.542	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		G	84652566	A	G	84652566	2	3	436	1	0	0	0	0	0	0	0	1	15369	175	7	3		3	SUCLG1	2	84652566	Silent	SNP	A	TCGA-BP-5187-01A-01D-1429-08	37431005	84652566	158546807	9	23891											
SLC4A10	57282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	162815017	162815017	+	Silent	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr2:162815017A>G	ENST00000446997.1	+	21	2907	c.2814A>G	c.(2812-2814)ctA>ctG	p.L938L	SLC4A10_ENST00000375514.5_Silent_p.L919L|SLC4A10_ENST00000421911.1_Silent_p.L938L|SLC4A10_ENST00000272716.5_Silent_p.L908L|SLC4A10_ENST00000415876.2_Silent_p.L908L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	938					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.L938L(1)|p.L908L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TGCCAGTGCTATATGGAGTGT	0.353																																																2	Substitution - coding silent(2)	kidney(2)											162	144	149					2																	162815017		1847	4091	5938	SO:0001819	synonymous_variant	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2814A>G	2.37:g.162815017A>G			B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	CCDS54411.1																																																																																				0.353	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		G	162815017	A	G	162815017	2	3	436	1	0	0	0	0	0	0	0	1	14657	436	16	3		3	SLC4A10	2	162815017	Silent	SNP	A	TCGA-BP-5187-01A-01D-1429-08	78162451	162815017	80384356	10	23892											
RFTN2	130132	broad.mit.edu	37	2	198508984	198508984	+	Silent	SNP	C	C	T	rs199531161		TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr2:198508984C>T	ENST00000295049.4	-	3	872	c.336G>A	c.(334-336)tcG>tcA	p.S112S		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	112					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.S112S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGGGTGCTGCCGAATTCTTTG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		16251	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											136	127	130					2																	198508984		2203	4300	6503	SO:0001819	synonymous_variant	130132			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.336G>A	2.37:g.198508984C>T			Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	ENST00000295049.4	37	CCDS2323.1																																																																																				0.453	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		T	198508984	C	T	198508984	2	4	436	1	0	0	0	0	0	0	0	1	13265	639	23	1		1	RFTN2	2	198508984	Silent	SNP	C	TCGA-BP-5187-01A-01D-1429-08	35693967	198508984	44690389	11	23893											
SAG	6295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234237149	234237149	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr2:234237149A>G	ENST00000409110.1	+	8	768	c.538A>G	c.(538-540)Aaa>Gaa	p.K180E	SAG_ENST00000449594.2_Missense_Mutation_p.K46E	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	180				K -> S (in Ref. 1; CAA30984). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)	p.K180E(2)		cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		ACTGATCCGCAAAGTACAGCA	0.602																																																2	Substitution - Missense(2)	kidney(2)											172	152	158					2																	234237149		1997	4172	6169	SO:0001583	missense	6295				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.538A>G	2.37:g.234237149A>G	ENSP00000386444:p.Lys180Glu		A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520660	0.64747	.	.	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.21734	1.99;1.99	4.19	4.19	0.49359	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.91459	3.21	0.58432	D	0.999999	D;D	0.69078	0.994;0.997	P;P	0.62560	0.649;0.904	T	0.64330	-0.6433	10	0.87932	D	0	-5.6723	13.7339	0.62807	1.0:0.0:0.0:0.0	.	46;180	B7Z7L5;P10523	.;ARRS_HUMAN	E	180;180;46	ENSP00000386444:K180E;ENSP00000392889:K46E	ENSP00000252857:K180E	K	+	1	0	SAG	233901888	1.000000	0.71417	0.584000	0.28653	0.217000	0.24651	9.083000	0.94067	1.898000	0.54952	0.533000	0.62120	AAA		0.602	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		G	234237149	A	G	234237149	3	3	436	1	0	0	0	0	1	0	0	0	13814	131	5	3	564	3	SAG	2	234237149	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08	35728165	234237149	8962224	12	23894											
ATG7	10533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	11348441	11348441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr3:11348441C>A	ENST00000354449.3	+	4	265	c.240C>A	c.(238-240)tgC>tgA	p.C80*	ATG7_ENST00000354956.5_Nonsense_Mutation_p.C80*|ATG7_ENST00000446450.2_Nonsense_Mutation_p.C80*	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	80					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.C80*(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CAGCCCGTTGCTGCCCAGCTA	0.502																																																1	Substitution - Nonsense(1)	kidney(1)											148	139	142					3																	11348441		2203	4300	6503	SO:0001587	stop_gained	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.240C>A	3.37:g.11348441C>A	ENSP00000346437:p.Cys80*		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Nonsense_Mutation	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	c	23.7	4.444851	0.83993	.	.	ENSG00000197548	ENST00000451513;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-17.4693	19.8591	0.96777	0.0:1.0:0.0:0.0	.	.	.	.	X	80	.	ENSP00000346437:C80X	C	+	3	2	ATG7	11323441	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.519000	0.45546	2.785000	0.95823	0.645000	0.84053	TGC		0.502	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		A	11348441	C	A	11348441	4	1	436	1	0	0	0	0	0	1	0	0	1101	805	28	4	250	4	ATG7	3	11348441	Nonsense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08		11348441	186673989	13	23895											
FBLN2	2199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	13659663	13659663	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr3:13659663A>T	ENST00000295760.7	+	6	1886	c.1817A>T	c.(1816-1818)gAt>gTt	p.D606V	FBLN2_ENST00000404922.3_Missense_Mutation_p.D606V|FBLN2_ENST00000492059.1_Missense_Mutation_p.D606V|FBLN2_ENST00000535798.1_Missense_Mutation_p.D632V	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	606	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.D606V(1)|p.D25V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GATGACCAGGATGAGTGCCTT	0.612																																																2	Substitution - Missense(2)	kidney(2)											106	115	112					3																	13659663		2053	4207	6260	SO:0001583	missense	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1817A>T	3.37:g.13659663A>T	ENSP00000295760:p.Asp606Val		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	a	19.12	3.765676	0.69878	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3	4.92	4.92	0.64577	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.061366	0.64402	D	0.000006	D	0.99007	0.9661	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.99113	1.0847	10	0.87932	D	0	.	12.799	0.57576	1.0:0.0:0.0:0.0	.	606;606;632	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	V	632;606;606;606	ENSP00000445705:D632V;ENSP00000384169:D606V;ENSP00000295760:D606V;ENSP00000420042:D606V	ENSP00000295760:D606V	D	+	2	0	FBLN2	13634664	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	7.163000	0.77524	1.842000	0.53543	0.520000	0.50463	GAT		0.612	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		T	13659663	A	T	13659663	3	4	436	1	0	0	0	0	1	0	0	0	5701	333	12	5	525	5	FBLN2	3	13659663	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08	2311222	13659663	184362767	14	23896											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643768	52643768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr3:52643768G>A	ENST00000296302.7	-	16	2129	c.2128C>T	c.(2128-2130)Cga>Tga	p.R710*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R725*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R710*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R710*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R678*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R725*			Q86U86	PB1_HUMAN	polybromo 1	710	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R710*(2)|p.R678*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTGACTTCGAATTTTTTCC	0.438			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											147	143	144					3																	52643768		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2128C>T	3.37:g.52643768G>A	ENSP00000296302:p.Arg710*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	38	7.040996	0.98021	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.17	3.13	0.36017	.	0.055075	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7405	15.7	0.77536	0.0:0.0:0.6414:0.3586	.	.	.	.	X	678;710;710;710;710;710;725;725;710;669	.	ENSP00000296302:R710X	R	-	1	2	PBRM1	52618808	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.705000	0.25675	1.587000	0.49959	0.655000	0.94253	CGA		0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52643768	G	A	52643768	4	1	436	1	0	0	0	0	0	1	0	0	11493	1066	37	1	2832	1	PBRM1	3	52643768	Nonsense_Mutation	SNP	G	TCGA-BP-5187-01A-01D-1429-08	38984105	52643768	145378662	15	23897											
CCKAR	886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	26487295	26487295	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr4:26487295C>T	ENST00000295589.3	-	3	784	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	197					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.R197H(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CAGTAGAAAGCGGCACATATT	0.393																																																1	Substitution - Missense(1)	kidney(1)											106	102	104					4																	26487295		2203	4300	6503	SO:0001583	missense	886			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.590G>A	4.37:g.26487295C>T	ENSP00000295589:p.Arg197His		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211232	0.95069	.	.	ENSG00000163394	ENST00000295589	T	0.37058	1.22	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.53995	-0.8359	10	0.40728	T	0.16	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	197	P32238	CCKAR_HUMAN	H	197	ENSP00000295589:R197H	ENSP00000295589:R197H	R	-	2	0	CCKAR	26096393	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.686000	0.91538	0.650000	0.86243	CGC		0.393	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			T	26487295	C	T	26487295	3	4	436	1	0	0	0	0	1	0	0	0	2882	768	27	1	708	1	CCKAR	4	26487295	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08		26487295	164666981	16	23898											
C4orf41	60684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	184629723	184629723	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr4:184629723T>C	ENST00000334690.6	+	29	3555	c.3353T>C	c.(3352-3354)gTc>gCc	p.V1118A	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.V724A|TRAPPC11_ENST00000357207.4_Silent_p.C1078C|RNU6-1053P_ENST00000515930.1_RNA	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1118					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.V1118A(1)									AGTATTTTTGTCAAGGTAAAG	0.363																																																1	Substitution - Missense(1)	kidney(1)											56	56	56					4																	184629723		2203	4300	6503	SO:0001583	missense	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.3353T>C	4.37:g.184629723T>C	ENSP00000335371:p.Val1118Ala		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827707	0.71143	.	.	ENSG00000168538	ENST00000334690;ENST00000512476	.	.	.	4.39	4.39	0.52855	.	0.069681	0.56097	D	0.000022	T	0.62183	0.2407	.	.	.	0.80722	D	1	P;D	0.60575	0.951;0.988	P;P	0.49085	0.525;0.6	T	0.68941	-0.5276	8	0.87932	D	0	.	13.7919	0.63146	0.0:0.0:0.0:1.0	.	724;1118	D6RHE5;Q7Z392	.;TPC11_HUMAN	A	1118;724	.	ENSP00000335371:V1118A	V	+	2	0	C4orf41	184866717	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.845000	0.86875	1.845000	0.53610	0.455000	0.32223	GTC		0.363	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		C	184629723	T	C	184629723	3	2	436	1	0	0	0	0	1	0	0	0	2272	1676	58	3	3463	3	C4orf41	4	184629723	Missense_Mutation	SNP	T	TCGA-BP-5187-01A-01D-1429-08	158142428	184629723	6524553	17	23899											
PPIC	5480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	122359616	122359616	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr5:122359616T>A	ENST00000306442.4	-	5	708	c.593A>T	c.(592-594)aAg>aTg	p.K198M	RN7SL689P_ENST00000577215.1_RNA	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	198	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.K198M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CACGTCTATCTTGCCACTGTT	0.498																																					Ovarian(99;690 1502 20765 45543 49568)											1	Substitution - Missense(1)	kidney(1)											278	248	259					5																	122359616		2203	4300	6503	SO:0001583	missense	5480			S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.593A>T	5.37:g.122359616T>A	ENSP00000303057:p.Lys198Met		A4LBB5	Missense_Mutation	SNP	ENST00000306442.4	37	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212127	0.58452	.	.	ENSG00000168938	ENST00000306442	T	0.35421	1.31	5.93	5.93	0.95920	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (1);Cyclophilin-like (1);	0.199221	0.51477	D	0.000090	T	0.27594	0.0678	N	0.12502	0.225	0.53005	D	0.999964	P	0.45827	0.867	P	0.45881	0.496	T	0.12553	-1.0543	10	0.87932	D	0	.	11.4605	0.50208	0.1343:0.0:0.0:0.8657	.	198	P45877	PPIC_HUMAN	M	198	ENSP00000303057:K198M	ENSP00000303057:K198M	K	-	2	0	PPIC	122387515	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.516000	0.60496	2.271000	0.75665	0.533000	0.62120	AAG		0.498	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		A	122359616	T	A	122359616	3	1	436	1	0	0	0	0	1	0	0	0	12325	1609	56	5	49	5	PPIC	5	122359616	Missense_Mutation	SNP	T	TCGA-BP-5187-01A-01D-1429-08		122359616	58555644	18	23900											
SIL1	64374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138378410	138378410	+	Splice_Site	SNP	T	T	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr5:138378410T>A	ENST00000394817.2	-	5	493		c.e5-2		SIL1_ENST00000265195.5_Splice_Site|SIL1_ENST00000509534.1_Splice_Site|CTB-46B19.2_ENST00000512875.2_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor						intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)	p.?(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATATCCAGCCTGTCCAAAGAA	0.488									Marinesco-Sjgren syndrome																																							1	Unknown(1)	kidney(1)											153	139	144					5																	138378410		2203	4300	6503	SO:0001630	splice_region_variant	64374	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.354-2A>T	5.37:g.138378410T>A			D3DQC2|Q8N2L3	Splice_Site	SNP	ENST00000394817.2	37	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.936745	0.52972	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000508639;ENST00000513453	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2214	0.48857	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIL1	138406309	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	2.438000	0.44837	2.217000	0.71921	0.454000	0.30748	.		0.488	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464	Intron	A	138378410	T	A	138378410	5	1	436	1	0	0	0	0	0	0	1	0	14327	1594	55	5	1057	5	SIL1	5	138378410	Splice_Site	SNP	T	TCGA-BP-5187-01A-01D-1429-08	16018794	138378410	42536850	19	23901											
SLU7	10569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	159835383	159835383	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr5:159835383T>C	ENST00000297151.4	-	8	1159	c.772A>G	c.(772-774)Aga>Gga	p.R258G		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	258					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)	p.R258G(1)		endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTAATTCGTCTCTTGGAGTCA	0.368																																																1	Substitution - Missense(1)	kidney(1)											92	94	93					5																	159835383		2203	4300	6503	SO:0001583	missense	10569			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.772A>G	5.37:g.159835383T>C	ENSP00000297151:p.Arg258Gly		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118565	0.77323	.	.	ENSG00000164609	ENST00000297151	T	0.41758	0.99	6.16	6.16	0.99307	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	L	0.50333	1.59	0.80722	D	1	P	0.37594	0.601	B	0.43701	0.428	T	0.44452	-0.9327	10	0.54805	T	0.06	-3.7263	16.8061	0.85666	0.0:0.0:0.0:1.0	.	258	O95391	SLU7_HUMAN	G	258	ENSP00000297151:R258G	ENSP00000297151:R258G	R	-	1	2	SLU7	159767961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.765000	0.62271	2.367000	0.80283	0.528000	0.53228	AGA		0.368	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		C	159835383	T	C	159835383	3	2	436	1	0	0	0	0	1	0	0	0	14761	1559	54	3	1024	3	SLU7	5	159835383	Missense_Mutation	SNP	T	TCGA-BP-5187-01A-01D-1429-08	21456973	159835383	21079877	20	23902											
UNC5A	90249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176295140	176295140	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr5:176295140C>A	ENST00000329542.4	+	3	576	c.302C>A	c.(301-303)aCc>aAc	p.T101N	UNC5A_ENST00000261961.3_Missense_Mutation_p.T61N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	101	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T101N(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCTGCCCACCATGGAGGTC	0.652																																																1	Substitution - Missense(1)	kidney(1)											97	98	98					5																	176295140		2203	4300	6503	SO:0001583	missense	90249			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.302C>A	5.37:g.176295140C>A	ENSP00000332737:p.Thr101Asn		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	CCDS34299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.419|9.419	1.082625|1.082625	0.20309|0.20309	.|.	.|.	ENSG00000113763|ENSG00000113763	ENST00000509580|ENST00000329542;ENST00000261961	.|T;T	.|0.39229	.|1.09;2.0	5.13|5.13	0.645|0.645	0.17782|0.17782	.|Immunoglobulin-like fold (1);	.|0.811066	.|0.11461	.|N	.|0.561719	T|T	0.24812|0.24812	0.0602|0.0602	N|N	0.14661|0.14661	0.345|0.345	0.22500|0.22500	N|N	0.999048|0.999048	.|B;B;B	.|0.17268	.|0.003;0.0;0.021	.|B;B;B	.|0.21708	.|0.036;0.0;0.015	T|T	0.26538|0.26538	-1.0100|-1.0100	5|10	.|0.87932	.|D	.|0	-5.2289|-5.2289	6.4867|6.4867	0.22093|0.22093	0.0:0.3868:0.0:0.6132|0.0:0.3868:0.0:0.6132	.|.	.|61;101;101	.|Q6ZN44-3;Q6ZN44;Q6ZN44-2	.|.;UNC5A_HUMAN;.	Q|N	66|101;61	.|ENSP00000332737:T101N;ENSP00000261961:T61N	.|ENSP00000261961:T61N	H|T	+|+	3|2	2|0	UNC5A|UNC5A	176227746|176227746	1.000000|1.000000	0.71417|0.71417	0.124000|0.124000	0.21820|0.21820	0.125000|0.125000	0.20455|0.20455	5.052000|5.052000	0.64263|0.64263	0.188000|0.188000	0.20168|0.20168	0.491000|0.491000	0.48974|0.48974	CAC|ACC		0.652	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		A	176295140	C	A	176295140	3	1	436	1	0	0	0	0	1	0	0	0	16996	507	18	4	312	4	UNC5A	5	176295140	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	16459757	176295140	4620120	21	23903											
HLA-E	3133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	30457321	30457321	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr6:30457321A>G	ENST00000376630.4	+	1	78	c.13A>G	c.(13-15)Acc>Gcc	p.T5A		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	5					antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)	p.T5A(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GGTAGATGGAACCCTCCTTTT	0.592																																																1	Substitution - Missense(1)	kidney(1)											79	84	82					6																	30457321		2203	4300	6503	SO:0001583	missense	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.13A>G	6.37:g.30457321A>G	ENSP00000365817:p.Thr5Ala		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	a	9.689	1.151268	0.21371	.	.	ENSG00000204592	ENST00000376630	T	0.00662	5.93	1.45	-2.9	0.05648	.	2.195050	0.03279	N	0.185941	T	0.00300	0.0009	L	0.41632	1.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45498	-0.9257	10	0.87932	D	0	.	3.7407	0.08528	0.2989:0.4941:0.2069:0.0	.	5	Q6DU44	.	A	5	ENSP00000365817:T5A	ENSP00000365817:T5A	T	+	1	0	HLA-E	30565300	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.464000	0.02359	-1.111000	0.02988	0.246000	0.17985	ACC		0.592	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		G	30457321	A	G	30457321	3	3	436	1	0	0	0	0	1	0	0	0	7212	43	2	3	15	3	HLA-E	6	30457321	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08		30457321	140657746	22	23904											
GRM4	2914	broad.mit.edu	37	6	34100855	34100855	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr6:34100855C>T	ENST00000538487.2	-	2	862	c.419G>A	c.(418-420)gGc>gAc	p.G140D	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Missense_Mutation_p.G140D	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	140					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.G140D(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GATGGGTGGGCCGCCACTGCC	0.612																																																2	Substitution - Missense(2)	kidney(2)											55	45	49					6																	34100855		2203	4299	6502	SO:0001583	missense	2914			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.419G>A	6.37:g.34100855C>T	ENSP00000440556:p.Gly140Asp		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	9.483	1.098610	0.20552	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	D;D	0.83250	-1.7;-1.7	3.73	3.73	0.42828	Extracellular ligand-binding receptor (1);	0.148193	0.43579	D	0.000559	T	0.45054	0.1323	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.12013	0.001;0.005;0.005	B;B;B	0.12156	0.006;0.007;0.005	T	0.46091	-0.9216	10	0.21014	T	0.42	.	9.5267	0.39169	0.0:0.8992:0.0:0.1008	.	140;140;140	B7ZLU9;A1L4F9;Q14833	.;.;GRM4_HUMAN	D	140	ENSP00000363296:G140D;ENSP00000440556:G140D	ENSP00000363296:G140D	G	-	2	0	GRM4	34208833	0.994000	0.37717	0.992000	0.48379	0.957000	0.61999	0.595000	0.24029	2.078000	0.62432	0.467000	0.42956	GGC		0.612	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			T	34100855	C	T	34100855	3	4	436	1	0	0	0	0	1	0	0	0	6801	739	26	2	2359	2	GRM4	6	34100855	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	3643534	34100855	137014212	23	23905											
DSE	29940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	116752301	116752301	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr6:116752301T>A	ENST00000331677.3	+	5	1299	c.855T>A	c.(853-855)ttT>ttA	p.F285L	DSE_ENST00000537543.1_Missense_Mutation_p.F304L|DSE_ENST00000359564.2_Missense_Mutation_p.F285L|DSE_ENST00000452085.3_Missense_Mutation_p.F285L			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	285					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.F285L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCAACCACTTTGGCCATCCGT	0.428																																																1	Substitution - Missense(1)	kidney(1)											162	131	142					6																	116752301		2203	4300	6503	SO:0001583	missense	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.855T>A	6.37:g.116752301T>A	ENSP00000332151:p.Phe285Leu		Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766646	0.69878	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	6.17	0.779	0.18550	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	N	0.26042	0.785	0.58432	D	0.999991	D;D	0.58268	0.982;0.982	P;P	0.54889	0.763;0.763	T	0.02075	-1.1218	10	0.24483	T	0.36	-19.251	9.4407	0.38666	0.0:0.5167:0.0:0.4833	.	304;285	B7Z765;Q9UL01	.;DSE_HUMAN	L	285;304;285;285	ENSP00000404049:F285L;ENSP00000441152:F304L;ENSP00000332151:F285L;ENSP00000352567:F285L	ENSP00000332151:F285L	F	+	3	2	DSE	116858994	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.868000	0.04236	0.149000	0.19098	0.533000	0.62120	TTT		0.428	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		A	116752301	T	A	116752301	3	1	436	1	0	0	0	0	1	0	0	0	4776	1809	63	5	865	5	DSE	6	116752301	Missense_Mutation	SNP	T	TCGA-BP-5187-01A-01D-1429-08	82651446	116752301	54362766	24	23906											
POR	5447	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	75611556	75611556	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr7:75611556A>G	ENST00000461988.1	+	8	851	c.746A>G	c.(745-747)gAg>gGg	p.E249G	POR_ENST00000450476.1_Missense_Mutation_p.E148G|POR_ENST00000545601.1_Missense_Mutation_p.E57G|POR_ENST00000394893.1_Missense_Mutation_p.E249G|POR_ENST00000419840.1_Missense_Mutation_p.E63G|POR_ENST00000439269.1_5'UTR	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	246					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)	p.E148G(1)|p.E246G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CGCCAGTACGAGCTTGTGGTC	0.632																																																2	Substitution - Missense(2)	kidney(2)											78	89	86					7																	75611556		2073	4176	6249	SO:0001583	missense	5447			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.746A>G	7.37:g.75611556A>G	ENSP00000419970:p.Glu249Gly		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.704268	0.48412	.	.	ENSG00000127948	ENST00000461988;ENST00000419840;ENST00000394893;ENST00000545601;ENST00000450476	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.34	4.2	0.49525	.	0.097108	0.64402	D	0.000001	T	0.76744	0.4030	L	0.56769	1.78	0.58432	D	0.999997	P;B;B	0.36171	0.541;0.195;0.123	B;B;B	0.30943	0.122;0.085;0.024	T	0.78510	-0.2176	10	0.56958	D	0.05	-40.8284	9.8661	0.41145	0.9196:0.0:0.0803:0.0	.	148;57;255	E7EVY7;F5H468;Q59ED7	.;.;.	G	249;63;249;57;148	ENSP00000419970:E249G;ENSP00000414244:E63G;ENSP00000378355:E249G;ENSP00000446149:E57G;ENSP00000416572:E148G	ENSP00000378355:E249G	E	+	2	0	POR	75449492	1.000000	0.71417	0.963000	0.40424	0.710000	0.40934	5.084000	0.64462	2.014000	0.59158	0.459000	0.35465	GAG		0.632	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		G	75611556	A	G	75611556	3	3	436	1	0	0	0	0	1	0	0	0	12259	304	11	3	772	3	POR	7	75611556	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08		75611556	83527107	25	23907											
MCM7	4176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99697218	99697218	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr7:99697218C>A	ENST00000303887.5	-	3	915	c.270G>T	c.(268-270)gaG>gaT	p.E90D	AP4M1_ENST00000359593.4_5'Flank|AP4M1_ENST00000421755.1_5'Flank|MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.E90D|AP4M1_ENST00000429084.1_5'Flank|AP4M1_ENST00000422582.1_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	90					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.E90D(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCACTTCCCTCTCCTTGTACT	0.512																																																1	Substitution - Missense(1)	kidney(1)											147	145	146					7																	99697218		2203	4300	6503	SO:0001583	missense	4176				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.270G>T	7.37:g.99697218C>A	ENSP00000307288:p.Glu90Asp		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.462736	0.26248	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483	T;T	0.11821	2.74;2.74	4.48	-0.936	0.10419	Nucleic acid-binding, OB-fold-like (1);	0.282934	0.38111	N	0.001803	T	0.06872	0.0175	L	0.31065	0.9	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.38415	-0.9662	10	0.17832	T	0.49	-5.9146	3.5415	0.07812	0.4146:0.3662:0.1351:0.0841	.	90	P33993	MCM7_HUMAN	D	90;90;27	ENSP00000344006:E90D;ENSP00000307288:E90D	ENSP00000307288:E90D	E	-	3	2	MCM7	99535154	0.981000	0.34729	0.861000	0.33841	0.865000	0.49528	0.187000	0.16998	-0.432000	0.07297	0.563000	0.77884	GAG		0.512	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			A	99697218	C	A	99697218	3	1	436	1	0	0	0	0	1	0	0	0	9394	912	32	4	1941	4	MCM7	7	99697218	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	24085662	99697218	59441445	26	23908											
ACO1	48	broad.mit.edu	37	9	32434667	32434667	+	Silent	SNP	C	C	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr9:32434667C>T	ENST00000309951.6	+	17	2205	c.2067C>T	c.(2065-2067)aaC>aaT	p.N689N	ACO1_ENST00000379923.1_Silent_p.N689N|ACO1_ENST00000541043.1_Silent_p.N590N	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	689					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.N689N(2)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTGCAAGAAACAGTCCTGCTG	0.448																																																2	Substitution - coding silent(2)	kidney(2)											135	128	130					9																	32434667		2203	4300	6503	SO:0001819	synonymous_variant	48			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2067C>T	9.37:g.32434667C>T			D3DRK7|Q14652|Q5VZA7	Silent	SNP	ENST00000309951.6	37	CCDS6525.1																																																																																				0.448	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		T	32434667	C	T	32434667	2	4	436	1	0	0	0	0	0	0	0	1	146	477	17	2		2	ACO1	9	32434667	Silent	SNP	C	TCGA-BP-5187-01A-01D-1429-08		32434667	108778764	27	23909											
S1PR3	1903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	91616543	91616543	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr9:91616543T>C	ENST00000375846.3	+	1	5123	c.428T>C	c.(427-429)aTg>aCg	p.M143T	S1PR3_ENST00000358157.2_Missense_Mutation_p.M143T			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	143					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.M143T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ATGATCAAAATGAGGCCTTAC	0.607											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											129	98	108					9																	91616543		2203	4300	6503	SO:0001583	missense	1903			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3167	protein-coding gene	gene with protein product	"sphingosine-1-phosphate receptor 3"	601965	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.428T>C	9.37:g.91616543T>C	ENSP00000365006:p.Met143Thr	1283	Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688272	0.68271	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.36520	1.25;1.25	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.042355	0.85682	D	0.000000	T	0.54319	0.1851	M	0.76002	2.32	0.53005	D	0.999963	D	0.63880	0.993	P	0.57846	0.828	T	0.55354	-0.8154	10	0.37606	T	0.19	.	14.9483	0.71050	0.0:0.0:0.0:1.0	.	143	Q99500	S1PR3_HUMAN	T	143	ENSP00000350878:M143T;ENSP00000365006:M143T	ENSP00000350878:M143T	M	+	2	0	S1PR3	90806363	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.993000	0.70616	2.117000	0.64856	0.459000	0.35465	ATG		0.607	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		C	91616543	T	C	91616543	3	2	436	1	0	0	0	0	1	0	0	0	13801	1464	51	3	430	3	S1PR3	9	91616543	Missense_Mutation	SNP	T	TCGA-BP-5187-01A-01D-1429-08	59181876	91616543	49596888	28	23910											
TEX10	54881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	103109629	103109629	+	Silent	SNP	T	T	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr9:103109629T>G	ENST00000374902.4	-	3	416	c.240A>C	c.(238-240)ggA>ggC	p.G80G	TEX10_ENST00000537512.1_Silent_p.G15G|TEX10_ENST00000535814.1_Silent_p.G83G	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	80						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.G80G(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GGTCTTTAAGTCCAAGAAGAG	0.323																																																1	Substitution - coding silent(1)	kidney(1)											129	139	136					9																	103109629		2203	4300	6503	SO:0001819	synonymous_variant	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.240A>C	9.37:g.103109629T>G			B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	CCDS6748.1																																																																																				0.323	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		G	103109629	T	G	103109629	2	3	436	1	0	0	0	0	0	0	0	1	15777	1654	58	5		5	TEX10	9	103109629	Silent	SNP	T	TCGA-BP-5187-01A-01D-1429-08	11493086	103109629	38103802	29	23911											
TOR2A	27433	hgsc.bcm.edu	37	9	130495610	130495610	+	Intron	SNP	T	T	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr9:130495610T>C	ENST00000373284.5	-	3	640				TOR2A_ENST00000373281.5_Missense_Mutation_p.Q216R|TOR2A_ENST00000336067.6_Intron|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000472723.1_5'UTR	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A						chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						GCTGTAGAGCTGAACCTCTGA	0.577																																																0													61	60	60					9																	130495610		2203	4300	6503	SO:0001627	intron_variant	27433			AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.593+53A>G	9.37:g.130495610T>C			A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Missense_Mutation	SNP	ENST00000373284.5	37	CCDS43879.1	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135754	0.21123	.	.	ENSG00000160404	ENST00000373281	T	0.66280	-0.2	4.79	0.935	0.19483	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.23476	-1.0187	8	0.06365	T	0.9	.	3.5599	0.07878	0.1334:0.0788:0.1383:0.6495	.	216	Q5JU69-2	.	R	216	ENSP00000362378:Q216R	ENSP00000362378:Q216R	Q	-	2	0	TOR2A	129535431	0.078000	0.21339	0.001000	0.08648	0.029000	0.11900	1.336000	0.33850	0.251000	0.21505	0.459000	0.35465	CAG		0.577	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054205.1	NM_130459		C	130495610	T	C	130495610	1	2	436	0	1	0	0	0	0	0	0	0	16380	1580	55	3		3	TOR2A	9	130495610	Intron	SNP	T	TCGA-BP-5187-01A-01D-1429-08	27385981	130495610	10717821	30	23912											
GPR158	57512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	25887644	25887644	+	Missense_Mutation	SNP	C	C	G	rs200285541		TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr10:25887644C>G	ENST00000376351.3	+	11	3448	c.3089C>G	c.(3088-3090)tCt>tGt	p.S1030C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1030					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1030C(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGCACGTATCTATTGTGGCT	0.453																																																1	Substitution - Missense(1)	kidney(1)											66	65	65					10																	25887644		2203	4300	6503	SO:0001583	missense	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3089C>G	10.37:g.25887644C>G	ENSP00000365529:p.Ser1030Cys		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058571	0.36277	.	.	ENSG00000151025	ENST00000376351	T	0.36878	1.23	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000003	T	0.39835	0.1093	M	0.68952	2.095	0.80722	D	1	P	0.43885	0.82	B	0.36335	0.222	T	0.49899	-0.8890	10	0.87932	D	0	.	19.2193	0.93790	0.0:1.0:0.0:0.0	.	1030	Q5T848	GP158_HUMAN	C	1030	ENSP00000365529:S1030C	ENSP00000365529:S1030C	S	+	2	0	GPR158	25927650	1.000000	0.71417	0.415000	0.26534	0.277000	0.26821	7.487000	0.81328	2.524000	0.85096	0.655000	0.94253	TCT		0.453	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		G	25887644	C	G	25887644	3	3	436	1	0	0	0	0	1	0	0	0	6665	913	32	4	3131	4	GPR158	10	25887644	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08		25887644	109647103	31	23913											
CTNNA3	29119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	68139003	68139003	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr10:68139003C>G	ENST00000433211.2	-	12	1813	c.1639G>C	c.(1639-1641)Gtt>Ctt	p.V547L	CTNNA3_ENST00000373744.4_Missense_Mutation_p.V547L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.V547L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATGTGAGCAACTCTTGCTGCC	0.473																																																2	Substitution - Missense(2)	kidney(2)											143	134	137					10																	68139003		2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1639G>C	10.37:g.68139003C>G	ENSP00000389714:p.Val547Leu			Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571915	0.96553	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.52057	0.68;0.68	5.87	5.87	0.94306	.	0.000000	0.48767	D	0.000168	T	0.74313	0.3700	M	0.88310	2.945	0.80722	D	1	D	0.57257	0.979	D	0.70487	0.969	T	0.78521	-0.2172	10	0.87932	D	0	-21.6518	17.6929	0.88273	0.0:1.0:0.0:0.0	.	547	Q9UI47	CTNA3_HUMAN	L	547	ENSP00000389714:V547L;ENSP00000362849:V547L	ENSP00000362849:V547L	V	-	1	0	CTNNA3	67809009	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.060000	0.71141	2.775000	0.95449	0.650000	0.86243	GTT		0.473	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		G	68139003	C	G	68139003	3	3	436	1	0	0	0	0	1	0	0	0	4016	565	20	4	1076	4	CTNNA3	10	68139003	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	42251359	68139003	67395744	32	23914											
CCNJ	54619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	97816869	97816869	+	Intron	SNP	C	C	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr10:97816869C>T	ENST00000265992.5	+	5	947				ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000403870.3_Intron|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000534974.1_Intron|CCNJ_ENST00000465148.2_Missense_Mutation_p.P202L|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J							nucleus (GO:0005634)		p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AATTATGCACCTTCTTTAGTA	0.423																																																1	Unknown(1)	kidney(1)											233	209	217					10																	97816869		2203	4300	6503	SO:0001627	intron_variant	54619			AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.581-9C>T	10.37:g.97816869C>T			B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621729	0.87460	.	.	ENSG00000107443	ENST00000419934	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	T	0.78381	0.4274	M	0.90705	3.14	0.80722	D	1	D	0.57571	0.98	P	0.51806	0.68	D	0.83733	0.0199	8	0.87932	D	0	.	18.3376	0.90294	0.0:1.0:0.0:0.0	.	202	Q5T5M9-3	.	L	202	.	ENSP00000388902:P202L	P	+	2	0	CCNJ	97806859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.690000	0.91761	0.650000	0.86243	CCT		0.423	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		T	97816869	C	T	97816869	1	4	436	0	1	0	0	0	0	0	0	0	2930	681	24	2		2	CCNJ	10	97816869	Intron	SNP	C	TCGA-BP-5187-01A-01D-1429-08	29677866	97816869	37717878	33	23915											
PRMT3	10196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	20486044	20486044	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr11:20486044A>C	ENST00000331079.6	+	13	1516	c.1299A>C	c.(1297-1299)gaA>gaC	p.E433D	PRMT3_ENST00000437750.2_Missense_Mutation_p.E371D	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	433	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.E433D(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CAGATTTGGAATTTTCATCAG	0.338																																																1	Substitution - Missense(1)	kidney(1)											117	115	115					11																	20486044		2203	4300	6503	SO:0001583	missense	10196			AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1299A>C	11.37:g.20486044A>C	ENSP00000331879:p.Glu433Asp		B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	A	6.966	0.548233	0.13312	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.70749	-0.51;-0.51	5.98	-1.34	0.09143	.	0.043371	0.85682	D	0.000000	T	0.40067	0.1102	N	0.12887	0.27	0.44995	D	0.998019	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.04693	-1.0933	10	0.12766	T	0.61	-25.4627	3.1498	0.06484	0.4896:0.1144:0.2788:0.1172	.	371;433	O60678-2;O60678	.;ANM3_HUMAN	D	433;433;371	ENSP00000331879:E433D;ENSP00000397766:E371D	ENSP00000331879:E433D	E	+	3	2	PRMT3	20442620	0.998000	0.40836	0.988000	0.46212	0.364000	0.29643	0.406000	0.21032	-0.274000	0.09232	-1.021000	0.02439	GAA		0.338	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		C	20486044	A	C	20486044	3	2	436	1	0	0	0	0	1	0	0	0	12543	98	4	5	1349	5	PRMT3	11	20486044	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08		20486044	114520472	34	23916	182	2									
PRMT3	10196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	20486049	20486049	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr11:20486049C>T	ENST00000331079.6	+	13	1521	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	PRMT3_ENST00000437750.2_Missense_Mutation_p.S373L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	435	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.S435L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TTGGAATTTTCATCAGATTTT	0.353																																																1	Substitution - Missense(1)	kidney(1)											117	114	115					11																	20486049		2203	4300	6503	SO:0001583	missense	10196			AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1304C>T	11.37:g.20486049C>T	ENSP00000331879:p.Ser435Leu		B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239896	0.58995	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.78595	-1.19;-1.19	5.98	5.98	0.97165	.	0.255560	0.45867	D	0.000333	T	0.77301	0.4110	L	0.60012	1.86	0.58432	D	0.999998	B;B	0.31227	0.314;0.025	B;B	0.31812	0.136;0.02	T	0.74408	-0.3675	10	0.45353	T	0.12	-13.3695	19.2235	0.93808	0.0:1.0:0.0:0.0	.	373;435	O60678-2;O60678	.;ANM3_HUMAN	L	435;435;373	ENSP00000331879:S435L;ENSP00000397766:S373L	ENSP00000331879:S435L	S	+	2	0	PRMT3	20442625	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	6.949000	0.75971	2.838000	0.97847	0.591000	0.81541	TCA		0.353	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		T	20486049	C	T	20486049	3	4	436	1	0	0	0	0	1	0	0	0	12543	838	29	2	1354	2	PRMT3	11	20486049	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	5	20486049	114520467	35	23917	182	2									
CTNND1	1500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57573353	57573353	+	Splice_Site	SNP	G	G	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr11:57573353G>A	ENST00000399050.4	+	10	2258		c.e10-1		CTNND1_ENST00000533667.1_Splice_Site|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000531014.1_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000527467.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000524630.1_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000526772.1_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000525902.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1						adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.?(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ATGTCCCTAAGCTTGTAGAGA	0.423																																																2	Unknown(2)	kidney(2)											71	67	68					11																	57573353		1877	4109	5986	SO:0001630	splice_region_variant	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1723-1G>A	11.37:g.57573353G>A			A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Splice_Site	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232945	0.79688	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5786	0.95455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNND1	57329929	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.476000	0.97823	2.726000	0.93360	0.655000	0.94253	.		0.423	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	Intron	A	57573353	G	A	57573353	5	1	436	1	0	0	0	0	0	0	1	0	4021	985	34	2	1752	2	CTNND1	11	57573353	Splice_Site	SNP	G	TCGA-BP-5187-01A-01D-1429-08	37087304	57573353	77433163	36	23918											
MAML2	84441	broad.mit.edu;hgsc.bcm.edu	37	11	95825502	95825502	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr11:95825502C>T	ENST00000524717.1	-	2	2977	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	565					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.D565N(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTCGCTTGATCTGAGTTAAAA	0.507			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - Missense(1)	kidney(1)											54	61	58					11																	95825502		2147	4283	6430	SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1693G>A	11.37:g.95825502C>T	ENSP00000434552:p.Asp565Asn		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290920	0.59976	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.63417	-0.04;-0.04	5.26	5.26	0.73747	.	0.175702	0.38326	N	0.001735	T	0.60157	0.2247	L	0.60455	1.87	0.42742	D	0.993748	P	0.43094	0.799	B	0.38378	0.272	T	0.62515	-0.6838	10	0.33940	T	0.23	-19.8129	18.8795	0.92351	0.0:1.0:0.0:0.0	.	565	Q8IZL2	MAML2_HUMAN	N	565	ENSP00000434552:D565N;ENSP00000412394:D565N	ENSP00000412394:D565N	D	-	1	0	MAML2	95465150	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	3.331000	0.52075	2.452000	0.82932	0.555000	0.69702	GAT		0.507	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825502	C	T	95825502	3	4	436	1	0	0	0	0	1	0	0	0	9208	913	32	2	1793	2	MAML2	11	95825502	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	38252149	95825502	39181014	37	23919											
ADAMTS20	80070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	43862444	43862444	+	Silent	SNP	T	T	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr12:43862444T>G	ENST00000389420.3	-	8	1181	c.1182A>C	c.(1180-1182)ggA>ggC	p.G394G	ADAMTS20_ENST00000553158.1_Silent_p.G394G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	394	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G394G(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGAAATGAGTCCTTTTTCTT	0.348																																																2	Substitution - coding silent(2)	kidney(2)											125	132	130					12																	43862444		2203	4300	6503	SO:0001819	synonymous_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1182A>C	12.37:g.43862444T>G			A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																				0.348	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		G	43862444	T	G	43862444	2	3	436	1	0	0	0	0	0	0	0	1	266	1654	58	5		5	ADAMTS20	12	43862444	Silent	SNP	T	TCGA-BP-5187-01A-01D-1429-08		43862444	89989451	38	23920											
BBS10	79738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	76741471	76741471	+	Silent	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr12:76741471A>G	ENST00000393262.3	-	2	377	c.294T>C	c.(292-294)caT>caC	p.H98H		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	98					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.H98H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTGTGATTGCATGAAGTCCTC	0.383									Bardet-Biedl syndrome																																							1	Substitution - coding silent(1)	kidney(1)											86	84	85					12																	76741471		2203	4300	6503	SO:0001819	synonymous_variant	79738	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.294T>C	12.37:g.76741471A>G			Q96CW2|Q9H5D2	Silent	SNP	ENST00000393262.3	37	CCDS9014.2																																																																																				0.383	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		G	76741471	A	G	76741471	2	3	436	1	0	0	0	0	0	0	0	1	1336	214	8	3		3	BBS10	12	76741471	Silent	SNP	A	TCGA-BP-5187-01A-01D-1429-08	32879027	76741471	57110424	39	23921											
KIAA1033	23325	broad.mit.edu;hgsc.bcm.edu	37	12	105537004	105537004	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr12:105537004A>G	ENST00000332180.5	+	20	2080	c.1993A>G	c.(1993-1995)Atg>Gtg	p.M665V		NM_015275.1	NP_056090.1			KIAA1033									p.M665V(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CAAGGAAATTATGGAAATTTT	0.358																																																1	Substitution - Missense(1)	kidney(1)											65	59	61					12																	105537004		1837	4095	5932	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1993A>G	12.37:g.105537004A>G	ENSP00000328062:p.Met665Val			Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.285158	0.40394	.	.	ENSG00000136051	ENST00000332180	T	0.40756	1.02	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	L	0.43152	1.355	0.80722	D	1	B;B	0.30973	0.302;0.302	B;B	0.27380	0.079;0.079	T	0.12604	-1.0541	10	0.15066	T	0.55	.	16.1435	0.81544	1.0:0.0:0.0:0.0	.	666;665	B7ZKT9;Q2M389	.;WASH7_HUMAN	V	665	ENSP00000328062:M665V	ENSP00000328062:M665V	M	+	1	0	KIAA1033	104061134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.212000	0.71576	0.528000	0.53228	ATG		0.358	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		G	105537004	A	G	105537004	3	3	436	1	0	0	0	0	1	0	0	0	8208	449	16	3	2071	3	KIAA1033	12	105537004	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08	28795533	105537004	28314891	40	23922											
N4BP2L2	10443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33110645	33110645	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr13:33110645G>T	ENST00000267068.3	-	2	684	c.520C>A	c.(520-522)Cag>Aag	p.Q174K	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.Q174K|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	174					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q174K(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTGTAAAACTGGAATAATTCA	0.318																																																1	Substitution - Missense(1)	kidney(1)											58	61	60					13																	33110645		2202	4298	6500	SO:0001583	missense	10443			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.520C>A	13.37:g.33110645G>T	ENSP00000267068:p.Gln174Lys		A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067510	0.55539	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.41065	1.01;1.01;1.01	5.82	5.82	0.92795	.	.	.	.	.	T	0.62270	0.2414	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.63980	-0.6514	9	0.87932	D	0	-13.2434	13.3228	0.60442	0.0719:0.0:0.9281:0.0	.	174;174	D6R968;Q92802	.;N42L2_HUMAN	K	174	ENSP00000394239:Q174K;ENSP00000423362:Q174K;ENSP00000267068:Q174K	ENSP00000267068:Q174K	Q	-	1	0	N4BP2L2	32008645	1.000000	0.71417	0.988000	0.46212	0.977000	0.68977	4.664000	0.61540	2.756000	0.94617	0.563000	0.77884	CAG		0.318	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		T	33110645	G	T	33110645	3	4	436	1	0	0	0	0	1	0	0	0	10114	1357	47	4	3112	4	N4BP2L2	13	33110645	Missense_Mutation	SNP	G	TCGA-BP-5187-01A-01D-1429-08		33110645	82059233	41	23923											
C14orf106	55320	hgsc.bcm.edu	37	14	45716018	45716019	+	Frame_Shift_Ins	INS	-	-	T	rs546807245	byFrequency	TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr14:45716018_45716019insT	ENST00000310806.4	-	2	929_930	c.471_472insA	c.(469-474)aaattgfs	p.L158fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	158					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K157fs*24(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GTATGCTGCAATTTTTTTTTTT	0.356													|||unknown(HR)	178	0.0355431	0.0628	0.0101	5008	,	,		17954	0.0169		0.0139	False		,,,				2504	0.0583															1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.472dupA	14.37:g.45716029_45716029dupT	ENSP00000309790:p.Leu158fs		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Ins	INS	ENST00000310806.4	37	CCDS9684.1																																																																																				0.356	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			T	45716019	-	T	45716018	7	5	436	1	0	1	1	0	0	0	0	0	1740	98	4	0	2990	0	C14orf106	14	45716018	Frame_Shift_Ins	INS	-	TCGA-BP-5187-01A-01D-1429-08		45716018	61633522	42	23924											
MPP5	64398	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	67779288	67779288	+	Silent	SNP	T	T	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr14:67779288T>C	ENST00000261681.4	+	9	1747	c.1086T>C	c.(1084-1086)ccT>ccC	p.P362P	MPP5_ENST00000555925.1_Silent_p.P328P|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	362	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.P362P(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CAGATGACCCTTATGTTCCAT	0.373																																																1	Substitution - coding silent(1)	kidney(1)											132	119	123					14																	67779288		2203	4300	6503	SO:0001819	synonymous_variant	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1086T>C	14.37:g.67779288T>C			A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	ENST00000261681.4	37	CCDS9779.1																																																																																				0.373	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		C	67779288	T	C	67779288	2	2	436	1	0	0	0	0	0	0	0	1	9739	1596	56	3		3	MPP5	14	67779288	Silent	SNP	T	TCGA-BP-5187-01A-01D-1429-08	22063270	67779288	39570252	43	23925											
SMEK1	55671	broad.mit.edu;hgsc.bcm.edu	37	14	91925215	91925215	+	Splice_Site	SNP	T	T	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr14:91925215T>A	ENST00000554943.1	-	15	2507		c.e15-2		SMEK1_ENST00000554684.1_Splice_Site|SMEK1_ENST00000555718.1_Splice_Site|SMEK1_ENST00000555462.1_Splice_Site|SMEK1_ENST00000337238.4_Splice_Site|SMEK1_ENST00000428424.2_Splice_Site			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)						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)		p.?(1)		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)		GAGGCCTCCCTGTTAAGAAAT	0.348																																																1	Unknown(1)	kidney(1)											54	47	49					14																	91925215		2203	4300	6503	SO:0001630	splice_region_variant	55671			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.2392-2A>T	14.37:g.91925215T>A			Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Splice_Site	SNP	ENST00000554943.1	37		.	.	.	.	.	.	.	.	.	.	T	15.54	2.864903	0.51482	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7725	0.78180	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMEK1	90994968	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.117000	0.77129	2.118000	0.64928	0.533000	0.62120	.		0.348	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560	Intron	A	91925215	T	A	91925215	5	1	436	1	0	0	0	0	0	0	1	0	14799	1594	55	5	115	5	SMEK1	14	91925215	Splice_Site	SNP	T	TCGA-BP-5187-01A-01D-1429-08	24145927	91925215	15424325	44	23926											
THBS1	7057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	39885311	39885311	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr15:39885311T>C	ENST00000260356.5	+	18	3043	c.2878T>C	c.(2878-2880)Ttc>Ctc	p.F960L	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	960	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.F960L(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TTTCCGCCGATTCCAGATGAT	0.488																																																1	Substitution - Missense(1)	kidney(1)											80	69	73					15																	39885311		2200	4297	6497	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2878T>C	15.37:g.39885311T>C	ENSP00000260356:p.Phe960Leu		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878731	0.91740	.	.	ENSG00000137801	ENST00000260356	D	0.90133	-2.62	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (1);	0.000000	0.37809	N	0.001926	D	0.93413	0.7899	L	0.47016	1.485	0.58432	D	0.999996	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.958	D	0.93304	0.6679	10	0.46703	T	0.11	-23.7788	15.8963	0.79336	0.0:0.0:0.0:1.0	.	875;960	B4E3J7;P07996	.;TSP1_HUMAN	L	960	ENSP00000260356:F960L	ENSP00000260356:F960L	F	+	1	0	THBS1	37672603	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.036000	0.88901	2.153000	0.67306	0.533000	0.62120	TTC		0.488	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		C	39885311	T	C	39885311	3	2	436	1	0	0	0	0	1	0	0	0	15858	1493	52	3	2944	3	THBS1	15	39885311	Missense_Mutation	SNP	T	TCGA-BP-5187-01A-01D-1429-08		39885311	62646081	45	23927											
TMOD2	29767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52065996	52065996	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr15:52065996C>A	ENST00000249700.4	+	4	592	c.371C>A	c.(370-372)gCc>gAc	p.A124D	TMOD2_ENST00000435126.2_Missense_Mutation_p.A124D|TMOD2_ENST00000539962.2_Missense_Mutation_p.A80D	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	124					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.A124D(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GAAGCTTTGGCCAGTGCCTCT	0.468																																																1	Substitution - Missense(1)	kidney(1)											144	140	141					15																	52065996		2195	4293	6488	SO:0001583	missense	29767			AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.371C>A	15.37:g.52065996C>A	ENSP00000249700:p.Ala124Asp		B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219441	0.79464	.	.	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	T;T;T	0.29917	1.55;1.55;1.55	5.46	5.46	0.80206	.	0.113656	0.64402	D	0.000009	T	0.33030	0.0849	L	0.35341	1.055	0.49915	D	0.999834	B;P	0.38863	0.001;0.65	B;P	0.45913	0.004;0.497	T	0.01424	-1.1358	10	0.12430	T	0.62	-15.0836	19.5125	0.95148	0.0:1.0:0.0:0.0	.	124;124	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	D	124;124;80	ENSP00000404590:A124D;ENSP00000249700:A124D;ENSP00000437743:A80D	ENSP00000249700:A124D	A	+	2	0	TMOD2	49853288	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.873000	0.69644	2.840000	0.97914	0.655000	0.94253	GCC		0.468	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			A	52065996	C	A	52065996	3	1	436	1	0	0	0	0	1	0	0	0	16239	739	26	4	381	4	TMOD2	15	52065996	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	12180685	52065996	50465396	46	23928	183	2									
TMOD2	29767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52066002	52066002	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr15:52066002C>T	ENST00000249700.4	+	4	598	c.377C>T	c.(376-378)gCc>gTc	p.A126V	TMOD2_ENST00000435126.2_Missense_Mutation_p.A126V|TMOD2_ENST00000539962.2_Missense_Mutation_p.A82V	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	126					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.A126V(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TTGGCCAGTGCCTCTGACACC	0.473																																																1	Substitution - Missense(1)	kidney(1)											146	142	143					15																	52066002		2195	4293	6488	SO:0001583	missense	29767			AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.377C>T	15.37:g.52066002C>T	ENSP00000249700:p.Ala126Val		B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572721	0.96553	.	.	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	T;T;T	0.51325	0.71;0.71;0.71	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72606	0.3481	M	0.88906	2.99	0.80722	D	1	P;P	0.52170	0.886;0.951	P;P	0.59643	0.782;0.861	T	0.77153	-0.2692	10	0.72032	D	0.01	-16.0113	19.5125	0.95148	0.0:1.0:0.0:0.0	.	126;126	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	V	126;126;82	ENSP00000404590:A126V;ENSP00000249700:A126V;ENSP00000437743:A82V	ENSP00000249700:A126V	A	+	2	0	TMOD2	49853294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.639000	0.83342	2.840000	0.97914	0.655000	0.94253	GCC		0.473	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			T	52066002	C	T	52066002	3	4	436	1	0	0	0	0	1	0	0	0	16239	739	26	2	387	2	TMOD2	15	52066002	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	6	52066002	50465390	47	23929	183	2									
PPL	5493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4953981	4953981	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr16:4953981C>G	ENST00000345988.2	-	3	312	c.223G>C	c.(223-225)Gtg>Ctg	p.V75L	PPL_ENST00000590782.2_Missense_Mutation_p.V75L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	75					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.V75L(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAGTCCAACACCTTCTGCAGG	0.612																																																1	Substitution - Missense(1)	kidney(1)											69	54	59					16																	4953981		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.223G>C	16.37:g.4953981C>G	ENSP00000340510:p.Val75Leu		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	2.061	-0.415348	0.04766	.	.	ENSG00000118898	ENST00000345988	T	0.65178	-0.14	5.28	2.08	0.27032	.	0.155279	0.44688	D	0.000440	T	0.28333	0.0700	N	0.03154	-0.405	0.28356	N	0.920663	B	0.10296	0.003	B	0.06405	0.002	T	0.29458	-1.0011	10	0.02654	T	1	.	7.113	0.25401	0.0:0.5656:0.2583:0.1761	.	75	O60437	PEPL_HUMAN	L	75	ENSP00000340510:V75L	ENSP00000340510:V75L	V	-	1	0	PPL	4893982	0.999000	0.42202	0.995000	0.50966	0.592000	0.36648	1.801000	0.38843	1.212000	0.43366	0.655000	0.94253	GTG		0.612	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		G	4953981	C	G	4953981	3	3	436	1	0	0	0	0	1	0	0	0	12339	507	18	4	5127	4	PPL	16	4953981	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08		4953981	85400772	48	23930											
SAMD14	201191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48191587	48191587	+	Silent	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr17:48191587A>G	ENST00000330175.4	-	8	1223	c.906T>C	c.(904-906)tcT>tcC	p.S302S	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Silent_p.S330S	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	302								p.S330S(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGTAGGGGTAAGAACATTTGG	0.592																																																1	Substitution - coding silent(1)	kidney(1)											70	67	68					17																	48191587		2203	4300	6503	SO:0001819	synonymous_variant	201191				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.906T>C	17.37:g.48191587A>G			A5D8V1|Q8N2X0	Silent	SNP	ENST00000330175.4	37	CCDS58562.1																																																																																				0.592	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		G	48191587	A	G	48191587	2	3	436	1	0	0	0	0	0	0	0	1	13825	59	3	3		3	SAMD14	17	48191587	Silent	SNP	A	TCGA-BP-5187-01A-01D-1429-08		48191587	33003623	49	23931											
SPAG9	9043	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	49057150	49057150	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr17:49057150A>C	ENST00000262013.7	-	26	3574	c.3366T>G	c.(3364-3366)caT>caG	p.H1122Q	SPAG9_ENST00000505279.1_Missense_Mutation_p.H1112Q|SPAG9_ENST00000357122.4_Missense_Mutation_p.H1108Q|SPAG9_ENST00000510283.1_Missense_Mutation_p.H965Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1122					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.H1108Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CATCCTGTAGATGTTGATAAG	0.458																																																1	Substitution - Missense(1)	kidney(1)											205	172	183					17																	49057150		2203	4300	6503	SO:0001583	missense	9043			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3366T>G	17.37:g.49057150A>C	ENSP00000262013:p.His1122Gln		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120925	0.77436	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.74	-0.872	0.10638	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	M	0.81682	2.555	0.58432	D	0.999992	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.994;0.986;1.0;1.0	T	0.44406	-0.9330	10	0.41790	T	0.15	-17.6443	12.284	0.54781	0.4539:0.0:0.5461:0.0	.	1112;1122;1108;965	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	Q	1122;879;869;965;1112;1108;720	ENSP00000262013:H1122Q;ENSP00000423165:H965Q;ENSP00000426900:H1112Q;ENSP00000349636:H1108Q	ENSP00000262013:H1122Q	H	-	3	2	SPAG9	46412149	0.997000	0.39634	0.968000	0.41197	0.969000	0.65631	0.492000	0.22435	-0.188000	0.10499	0.402000	0.26972	CAT		0.458	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		C	49057150	A	C	49057150	3	2	436	1	0	0	0	0	1	0	0	0	14991	330	12	5	619	5	SPAG9	17	49057150	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08	865563	49057150	32138060	50	23932											
COX11	1353	broad.mit.edu;hgsc.bcm.edu	37	17	53040153	53040153	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr17:53040153A>G	ENST00000299335.3	-	4	910	c.772T>C	c.(772-774)Tct>Cct	p.S258P	COX11_ENST00000573912.1_5'Flank	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	258					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)	p.S258P(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						AAAGTGTAAGAAAGAGTGATA	0.373																																																1	Substitution - Missense(1)	kidney(1)											87	88	88					17																	53040153		2203	4299	6502	SO:0001583	missense	1353			AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"Mitochondrial respiratory chain complex assembly factors"	2261	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit 11", "cytochrome c oxidase assembly protein COX11"	603648	"COX11 (yeast) homolog, cytochrome c oxidase assembly protein", "COX11 cytochrome c oxidase assembly homolog (yeast)"			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.772T>C	17.37:g.53040153A>G	ENSP00000299335:p.Ser258Pro		D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Missense_Mutation	SNP	ENST00000299335.3	37	CCDS11583.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425253	0.83667	.	.	ENSG00000166260	ENST00000299335	T	0.56103	0.48	5.33	5.33	0.75918	Cytochrome c oxidase assembly protein CtaG/Cox11, domain (2);	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77099	-0.2713	9	0.87932	D	0	1.3894	14.7737	0.69699	1.0:0.0:0.0:0.0	.	258	Q9Y6N1	COX11_HUMAN	P	258	ENSP00000299335:S258P	ENSP00000299335:S258P	S	-	1	0	COX11	50395152	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.221000	0.95188	2.134000	0.65973	0.528000	0.53228	TCT		0.373	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375		G	53040153	A	G	53040153	3	3	436	1	0	0	0	0	1	0	0	0	3765	246	9	3	128	3	COX11	17	53040153	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08	3983003	53040153	28155057	51	23933											
GAA	2548	broad.mit.edu;hgsc.bcm.edu	37	17	78090863	78090863	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr17:78090863A>T	ENST00000302262.3	+	16	2505	c.2286A>T	c.(2284-2286)gaA>gaT	p.E762D	GAA_ENST00000390015.3_Missense_Mutation_p.E762D	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	762					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.E762D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGAAGGCCGAAGTGACTGGCT	0.652																																																1	Substitution - Missense(1)	kidney(1)											63	55	57					17																	78090863		2202	4300	6502	SO:0001583	missense	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2286A>T	17.37:g.78090863A>T	ENSP00000305692:p.Glu762Asp		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	A	9.776	1.173974	0.21704	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.91577	-2.87;-2.87	5.1	-10.0	0.00425	.	0.800530	0.11633	N	0.544614	T	0.76140	0.3946	N	0.25201	0.72	0.23192	N	0.99815	B	0.10296	0.003	B	0.15484	0.013	T	0.60260	-0.7298	10	0.20046	T	0.44	-5.7568	7.4781	0.27390	0.3503:0.2957:0.354:0.0	.	762	P10253	LYAG_HUMAN	D	762	ENSP00000305692:E762D;ENSP00000374665:E762D	ENSP00000305692:E762D	E	+	3	2	GAA	75705458	0.000000	0.05858	0.029000	0.17559	0.456000	0.32438	-1.387000	0.02535	-1.263000	0.02455	0.482000	0.46254	GAA		0.652	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			T	78090863	A	T	78090863	3	4	436	1	0	0	0	0	1	0	0	0	6149	69	3	5	2344	5	GAA	17	78090863	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08	25050710	78090863	3104347	52	23934											
CEP76	79959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	12701062	12701062	+	Silent	SNP	T	T	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr18:12701062T>C	ENST00000262127.2	-	2	339	c.114A>G	c.(112-114)gaA>gaG	p.E38E	PSMG2_ENST00000317615.6_5'Flank|CEP76_ENST00000586887.1_5'UTR|CEP76_ENST00000423709.2_Silent_p.E38E|PSMG2_ENST00000590217.1_5'Flank|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	38					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.E38E(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGCCAATTCTTCCCGTATAG	0.358																																																1	Substitution - coding silent(1)	kidney(1)											140	125	130					18																	12701062		2203	4300	6503	SO:0001819	synonymous_variant	79959			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.114A>G	18.37:g.12701062T>C			B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Silent	SNP	ENST00000262127.2	37	CCDS11861.1																																																																																				0.358	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		C	12701062	T	C	12701062	2	2	436	1	0	0	0	0	0	0	0	1	3263	1606	56	3		3	CEP76	18	12701062	Silent	SNP	T	TCGA-BP-5187-01A-01D-1429-08		12701062	65376186	53	23935											
ZNF257	113835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	22271280	22271280	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr19:22271280A>G	ENST00000594947.1	+	4	872	c.728A>G	c.(727-729)cAc>cGc	p.H243R		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H243R(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CGGTCTTCACACCTTACTCAA	0.403																																																1	Substitution - Missense(1)	kidney(1)											38	41	40					19																	22271280		2147	4263	6410	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.728A>G	19.37:g.22271280A>G	ENSP00000470209:p.His243Arg		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	A	2.767	-0.256509	0.05829	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-1.22	0.09494	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26122	0.0637	L	0.35723	1.085	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28038	-1.0056	8	0.15952	T	0.53	.	5.6936	0.17843	0.7241:0.2758:0.0:0.0	.	243	Q9Y2Q1	ZN257_HUMAN	R	243;215	.	ENSP00000380312:H215R	H	+	2	0	ZNF257	22063120	0.000000	0.05858	0.019000	0.16419	0.580000	0.36256	-0.158000	0.10070	-0.554000	0.06150	0.260000	0.18958	CAC		0.403	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			G	22271280	A	G	22271280	3	3	436	1	0	0	0	0	1	0	0	0	17805	159	6	3	742	3	ZNF257	19	22271280	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08		22271280	36857703	54	23936											
MARK4	57787	broad.mit.edu;ucsc.edu	37	19	45800968	45800968	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr19:45800968T>C	ENST00000262891.4	+	15	1964	c.1633T>C	c.(1633-1635)Tcc>Ccc	p.S545P	MARK4_ENST00000300843.4_Missense_Mutation_p.S545P	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	545					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.S545P(2)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCCTCCCCCTCCAGTCACAG	0.697																																																2	Substitution - Missense(2)	kidney(2)											8	10	9					19																	45800968		2033	3989	6022	SO:0001583	missense	57787			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1633T>C	19.37:g.45800968T>C	ENSP00000262891:p.Ser545Pro		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	t	15.31	2.796107	0.50208	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.46451	0.87;0.87	3.88	3.88	0.44766	.	0.629298	0.14570	N	0.311527	T	0.42314	0.1197	L	0.48362	1.52	0.58432	D	0.999998	P;D	0.58620	0.567;0.983	B;P	0.47603	0.249;0.551	T	0.37056	-0.9722	10	0.56958	D	0.05	.	10.7168	0.46017	0.0:0.0:0.0:1.0	.	545;545	Q96L34;Q96L34-2	MARK4_HUMAN;.	P	545	ENSP00000262891:S545P;ENSP00000300843:S545P	ENSP00000262891:S545P	S	+	1	0	MARK4	50492808	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.159000	0.77483	1.629000	0.50426	0.248000	0.18094	TCC		0.697	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		C	45800968	T	C	45800968	3	2	436	1	0	0	0	0	1	0	0	0	9317	1551	54	3	1691	3	MARK4	19	45800968	Missense_Mutation	SNP	T	TCGA-BP-5187-01A-01D-1429-08	23529688	45800968	13328015	55	23937											
KLK14	43847	broad.mit.edu;hgsc.bcm.edu	37	19	51582708	51582708	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr19:51582708A>T	ENST00000156499.2	-	5	730	c.512T>A	c.(511-513)aTc>aAc	p.I171N	KLK14_ENST00000391802.1_Missense_Mutation_p.I171N			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	171	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.I171N(1)|p.I155N(1)		kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GTCCTCACCGATGGGGCTGGA	0.677																																					GBM(117;2161 2172 2448 22911)											2	Substitution - Missense(2)	kidney(2)											28	30	29					19																	51582708		1921	4153	6074	SO:0001583	missense	43847			AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"Kallikreins"	6362	protein-coding gene	gene with protein product		606135	"kallikrein 14"			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.512T>A	19.37:g.51582708A>T	ENSP00000156499:p.Ile171Asn		A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	ENST00000156499.2	37	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	10.63	1.402840	0.25291	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.87729	-2.29;-2.29	4.88	-0.0634	0.13777	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.66645	0.2810	N	0.02697	-0.525	0.09310	N	1	B	0.15930	0.015	B	0.13407	0.009	T	0.54984	-0.8211	9	0.33940	T	0.23	.	4.4215	0.11482	0.4708:0.0:0.0872:0.442	.	171	Q9P0G3	KLK14_HUMAN	N	171	ENSP00000156499:I171N;ENSP00000375678:I171N	ENSP00000156499:I171N	I	-	2	0	KLK14	56274520	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.715000	0.04997	-0.064000	0.13043	0.235000	0.17854	ATC		0.677	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046		T	51582708	A	T	51582708	3	4	436	1	0	0	0	0	1	0	0	0	8404	333	12	5	303	5	KLK14	19	51582708	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08	5781740	51582708	7546275	56	23938											
NLRP2	55655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55497591	55497591	+	Silent	SNP	G	G	T	rs144434448		TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr19:55497591G>T	ENST00000543010.1	+	8	2417	c.2274G>T	c.(2272-2274)acG>acT	p.T758T	NLRP2_ENST00000427260.2_Silent_p.T735T|NLRP2_ENST00000391721.4_Silent_p.T734T|NLRP2_ENST00000538819.1_Silent_p.T734T|NLRP2_ENST00000448584.2_Silent_p.T758T|NLRP2_ENST00000537859.1_Silent_p.T736T|NLRP2_ENST00000339757.7_Silent_p.T736T|NLRP2_ENST00000263437.6_Silent_p.T755T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	758					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.T758T(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGACTGTAACGTATCTGACCC	0.458																																																1	Substitution - coding silent(1)	kidney(1)											150	118	128					19																	55497591		2203	4300	6503	SO:0001819	synonymous_variant	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2274G>T	19.37:g.55497591G>T			B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																				0.458	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		T	55497591	G	T	55497591	2	4	436	1	0	0	0	0	0	0	0	1	10479	1132	40	4		4	NLRP2	19	55497591	Silent	SNP	G	TCGA-BP-5187-01A-01D-1429-08	3914883	55497591	3631392	57	23939											
TGM6	343641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2381082	2381082	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr20:2381082C>G	ENST00000202625.2	+	7	1042	c.981C>G	c.(979-981)gaC>gaG	p.D327E	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.D327E	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	327			D -> G (in SCA35). {ECO:0000269|PubMed:21106500}.		cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D327E(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGACAGAAGACAGCATGTGGT	0.607																																																1	Substitution - Missense(1)	kidney(1)											89	79	83					20																	2381082		2203	4300	6503	SO:0001583	missense	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.981C>G	20.37:g.2381082C>G	ENSP00000202625:p.Asp327Glu		Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669289	0.88348	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.95788	-3.81;-3.81	4.27	4.27	0.50696	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.86097	2.795	0.45366	D	0.998354	D;D	0.89917	0.975;1.0	P;D	0.97110	0.787;1.0	D	0.97889	1.0296	10	0.59425	D	0.04	-37.278	14.5714	0.68213	0.0:1.0:0.0:0.0	.	327;327	O95932-2;O95932	.;TGM3L_HUMAN	E	327	ENSP00000202625:D327E;ENSP00000370831:D327E	ENSP00000202625:D327E	D	+	3	2	TGM6	2329082	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.619000	0.67729	2.395000	0.81488	0.462000	0.41574	GAC		0.607	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		G	2381082	C	G	2381082	3	3	436	1	0	0	0	0	1	0	0	0	15839	477	17	4	1007	4	TGM6	20	2381082	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08		2381082	60644438	58	23940											
GNAS	2778	hgsc.bcm.edu;ucsc.edu	37	20	57484440	57484441	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr20:57484440_57484441insT	ENST00000371085.3	+	8	1045_1046	c.621_622insT	c.(622-624)tttfs	p.F208fs	GNAS_ENST00000371095.3_Frame_Shift_Ins_p.F194fs|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.F193fs|GNAS_ENST00000371100.4_Frame_Shift_Ins_p.F851fs|GNAS_ENST00000306090.10_Frame_Shift_Ins_p.F194fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.F209fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.F837fs	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	208					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCTGGAATCTTTGAGACCAA	0.436			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0																																										SO:0001589	frameshift_variant	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.624dupT	20.37:g.57484443_57484443dupT	ENSP00000360126:p.Phe208fs		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Frame_Shift_Ins	INS	ENST00000371085.3	37	CCDS13472.1																																																																																				0.436	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		T	57484441	-	T	57484440	7	5	436	1	0	1	1	0	0	0	0	0	6512	903	32	0	3468	0	GNAS	20	57484440	Frame_Shift_Ins	INS	-	TCGA-BP-5187-01A-01D-1429-08	55103358	57484440	5541080	59	23941											
CDH4	1002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	60499490	60499490	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr20:60499490C>G	ENST00000360469.5	+	11	1815	c.1727C>G	c.(1726-1728)aCc>aGc	p.T576S	CDH4_ENST00000543233.1_Missense_Mutation_p.T502S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	576	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T576S(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCCCTCTACACCAAAAACAAC	0.617																																																1	Substitution - Missense(1)	kidney(1)											132	101	112					20																	60499490		2203	4300	6503	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1727C>G	20.37:g.60499490C>G	ENSP00000353656:p.Thr576Ser		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597417	0.46318	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.55760	0.5;0.51	4.44	0.168	0.15012	Cadherin (4);Cadherin-like (1);	0.394839	0.29767	N	0.011258	T	0.26738	0.0654	N	0.04508	-0.205	0.25163	N	0.990333	B	0.22480	0.07	B	0.31946	0.138	T	0.28299	-1.0048	9	.	.	.	.	7.8915	0.29680	0.0:0.3181:0.0:0.6819	.	576	P55283	CADH4_HUMAN	S	576;484;502	ENSP00000353656:T576S;ENSP00000443301:T502S	.	T	+	2	0	CDH4	59932885	1.000000	0.71417	0.979000	0.43373	0.889000	0.51656	3.249000	0.51437	-0.263000	0.09378	-0.367000	0.07326	ACC		0.617	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		G	60499490	C	G	60499490	3	3	436	1	0	0	0	0	1	0	0	0	3114	507	18	4	1769	4	CDH4	20	60499490	Missense_Mutation	SNP	C	TCGA-BP-5187-01A-01D-1429-08	3015050	60499490	2526030	60	23942											
SGSM1	129049	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	25251635	25251635	+	Silent	SNP	T	T	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr22:25251635T>A	ENST00000400359.4	+	8	796	c.789T>A	c.(787-789)gtT>gtA	p.V263V	SGSM1_ENST00000400358.4_Silent_p.V263V	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	263						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.V263V(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AAAACAACGTTCTTGTTCAGC	0.547																																																2	Substitution - coding silent(2)	kidney(2)											81	88	86					22																	25251635		2013	4180	6193	SO:0001819	synonymous_variant	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.789T>A	22.37:g.25251635T>A			A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	CCDS46674.1																																																																																				0.547	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		A	25251635	T	A	25251635	2	1	436	1	0	0	0	0	0	0	0	1	14228	1770	62	5		5	SGSM1	22	25251635	Silent	SNP	T	TCGA-BP-5187-01A-01D-1429-08		25251635	26052931	61	23943											
SSTR3	6753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	37603580	37603580	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chr22:37603580A>G	ENST00000328544.3	-	2	796	c.263T>C	c.(262-264)cTg>cCg	p.L88P	SSTR3_ENST00000402501.1_Missense_Mutation_p.L88P	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	88					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.L88P(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CTCGTCGGCCAGCGCCAGGTT	0.652																																																1	Substitution - Missense(1)	kidney(1)											75	71	72					22																	37603580		2203	4300	6503	SO:0001583	missense	6753				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.263T>C	22.37:g.37603580A>G	ENSP00000330138:p.Leu88Pro		A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039205	0.75617	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.44482	0.92;0.92	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.080665	0.52532	D	0.000075	T	0.71065	0.3296	M	0.89534	3.04	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.78272	-0.2268	10	0.87932	D	0	.	15.802	0.78458	1.0:0.0:0.0:0.0	.	88	P32745	SSR3_HUMAN	P	88	ENSP00000330138:L88P;ENSP00000384904:L88P	ENSP00000330138:L88P	L	-	2	0	SSTR3	35933526	1.000000	0.71417	0.978000	0.43139	0.805000	0.45488	9.339000	0.96797	2.138000	0.66242	0.455000	0.32223	CTG		0.652	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			G	37603580	A	G	37603580	3	3	436	1	0	0	0	0	1	0	0	0	15204	188	7	3	997	3	SSTR3	22	37603580	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08	12351945	37603580	13700986	62	23944											
SMS	6611	broad.mit.edu;hgsc.bcm.edu	37	X	22010764	22010764	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chrX:22010764delT	ENST00000404933.2	+	10	1247	c.995delT	c.(994-996)ctgfs	p.L332fs	SMS_ENST00000379404.1_Frame_Shift_Del_p.L279fs|SMS_ENST00000415881.2_Frame_Shift_Del_p.L236fs	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	332	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GAAGAACAGCTGGGGCGCCTG	0.463																																																0													131	101	111					X																	22010764		2203	4300	6503	SO:0001589	frameshift_variant	6611			AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"Snyder-Robinson X-linked mental retardation syndrome"	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.995delT	X.37:g.22010764delT	ENSP00000385746:p.Leu332fs		A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Frame_Shift_Del	DEL	ENST00000404933.2	37	CCDS14203.1																																																																																				0.463	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		-	22010764	T	-	22010764	7	5	436	1	0	1	0	1	0	0	0	0	14819	1580	55	0	1033	0	SMS	23	22010764	Frame_Shift_Del	DEL	T	TCGA-BP-5187-01A-01D-1429-08		22010764	133259796	63	23945											
HDAC6	10013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48674573	48674573	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chrX:48674573A>G	ENST00000334136.5	+	18	1697	c.1519A>G	c.(1519-1521)Atc>Gtc	p.I507V	HDAC6_ENST00000376619.2_Missense_Mutation_p.I507V|HDAC6_ENST00000444343.2_Missense_Mutation_p.I521V			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	507	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.I507V(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ACCCCAGCGCATCTTGCGGAT	0.652																																					Pancreas(112;205 1675 2305 8976 15959)											1	Substitution - Missense(1)	kidney(1)											100	80	87					X																	48674573		2203	4300	6503	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1519A>G	X.37:g.48674573A>G	ENSP00000334061:p.Ile507Val		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	A	9.659	1.143647	0.21205	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.70399	-0.48;-0.48;-0.48	5.85	3.36	0.38483	Histone deacetylase domain (2);	0.174104	0.47093	N	0.000241	T	0.68072	0.2961	L	0.49455	1.56	0.80722	D	1	B;B;B	0.27316	0.009;0.175;0.009	B;B;B	0.39876	0.032;0.312;0.032	T	0.60786	-0.7194	10	0.40728	T	0.16	-13.2619	8.6744	0.34170	0.882:0.0:0.118:0.0	.	497;155;507	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	V	521;507;507;507	ENSP00000398566:I521V;ENSP00000334061:I507V;ENSP00000365804:I507V	ENSP00000334061:I507V	I	+	1	0	HDAC6	48559517	0.994000	0.37717	0.104000	0.21259	0.167000	0.22549	2.026000	0.41069	0.274000	0.22072	0.481000	0.45027	ATC		0.652	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		G	48674573	A	G	48674573	3	3	436	1	0	0	0	0	1	0	0	0	7013	217	8	3	1585	3	HDAC6	23	48674573	Missense_Mutation	SNP	A	TCGA-BP-5187-01A-01D-1429-08	26663809	48674573	106595987	64	23946											
SPIN2A	54466	broad.mit.edu;hgsc.bcm.edu	37	X	57162317	57162317	+	Silent	SNP	C	C	T			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chrX:57162317C>T	ENST00000374908.1	-	1	1113	c.714G>A	c.(712-714)gtG>gtA	p.V238V	SPIN2A_ENST00000374906.3_Silent_p.V238V			Q99865	SPI2A_HUMAN	spindlin family, member 2A	238					cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)		p.V238V(1)		breast(1)|kidney(1)|ovary(1)	3						TGATGAAATACACAGAGGGTT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											126	106	113					X																	57162317		2202	4294	6496	SO:0001819	synonymous_variant	54466			Y09858	CCDS35312.1	Xp11.1	2008-02-05	2006-12-05	2006-12-05	ENSG00000147059	ENSG00000147059			20694	protein-coding gene	gene with protein product		300621	"spindlin family, member 2"	SPIN2		9271673	Standard	NM_019003		Approved	DXF34	uc004dvb.3	Q99865	OTTHUMG00000022705	ENST00000374908.1:c.714G>A	X.37:g.57162317C>T			O75650|Q6IPW2|Q9UJJ0	Silent	SNP	ENST00000374908.1	37	CCDS35312.1																																																																																				0.388	SPIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058915.1	NM_019003		T	57162317	C	T	57162317	2	4	436	1	0	0	0	0	0	0	0	1	15058	465	17	2		2	SPIN2A	23	57162317	Silent	SNP	C	TCGA-BP-5187-01A-01D-1429-08	8487744	57162317	98108243	65	23947											
SLITRK2	84631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	144905975	144905975	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chrX:144905975G>A	ENST00000370490.1	+	1	6287	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Missense_Mutation_p.D678N|SLITRK2_ENST00000447897.2_Missense_Mutation_p.D678N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.D678N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.D678N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	678					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.D678N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGACTCACGATAAAACAGA	0.493																																																1	Substitution - Missense(1)	kidney(1)											77	68	71					X																	144905975		2203	4300	6503	SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2032G>A	X.37:g.144905975G>A	ENSP00000359521:p.Asp678Asn		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198707	0.38806	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.50813	0.78;0.73;0.73;0.73;0.73;0.73	5.67	5.67	0.87782	.	0.192733	0.46758	D	0.000268	T	0.45316	0.1336	L	0.51422	1.61	0.58432	D	0.999999	D	0.56746	0.977	B	0.43301	0.415	T	0.37865	-0.9687	10	0.30078	T	0.28	-11.8358	16.0092	0.80385	0.0:0.0:1.0:0.0	.	678	Q9H156	SLIK2_HUMAN	N	678	ENSP00000334374:D678N;ENSP00000411681:D678N;ENSP00000359521:D678N;ENSP00000397015:D678N;ENSP00000407347:D678N;ENSP00000412010:D678N	ENSP00000334374:D678N	D	+	1	0	SLITRK2	144713667	1.000000	0.71417	0.977000	0.42913	0.959000	0.62525	7.581000	0.82535	2.380000	0.81148	0.600000	0.82982	GAT		0.493	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		A	144905975	G	A	144905975	3	1	436	1	0	0	0	0	1	0	0	0	14749	1058	37	1	2034	1	SLITRK2	23	144905975	Missense_Mutation	SNP	G	TCGA-BP-5187-01A-01D-1429-08	87743658	144905975	10364585	66	23948											
RENBP	5973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153209149	153209149	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5187-01A-01D-1429-08	TCGA-BP-5187-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1a0367d6-1237-454c-a4b0-4fa53782303e	6cc23233-3e06-4b8e-9c48-de62e5c49ebf	g.chrX:153209149T>C	ENST00000393700.3	-	5	391	c.311A>G	c.(310-312)tAt>tGt	p.Y104C	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000369997.3_Missense_Mutation_p.Y90C|RENBP_ENST00000412763.1_Missense_Mutation_p.Y104C	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	104					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)	p.Y104C(1)|p.Y94C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CACCCGGGCATACCGCAGCAA	0.627																																																2	Substitution - Missense(2)	kidney(2)											67	55	59					X																	153209149		2203	4300	6503	SO:0001583	missense	5973				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.311A>G	X.37:g.153209149T>C	ENSP00000377303:p.Tyr104Cys		B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	T	12.29	1.892127	0.33442	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.32753	1.44;1.51;1.44	4.66	0.799	0.18667	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.417238	0.26582	N	0.023575	T	0.26304	0.0642	M	0.64080	1.96	0.32239	N	0.573025	B;B	0.21905	0.062;0.053	B;B	0.25405	0.024;0.06	T	0.14783	-1.0460	10	0.54805	T	0.06	-0.0834	4.1544	0.10254	0.1523:0.1784:0.0:0.6693	.	104;104	P51606-2;P51606	.;RENBP_HUMAN	C	104;104;90	ENSP00000377303:Y104C;ENSP00000387811:Y104C;ENSP00000359014:Y90C	ENSP00000359014:Y90C	Y	-	2	0	RENBP	152862343	0.008000	0.16893	0.826000	0.32828	0.804000	0.45430	0.409000	0.21082	-0.218000	0.10018	0.417000	0.27973	TAT		0.627	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		C	153209149	T	C	153209149	3	2	436	1	0	0	0	0	1	0	0	0	13231	1406	49	3	1000	3	RENBP	23	153209149	Missense_Mutation	SNP	T	TCGA-BP-5187-01A-01D-1429-08	8303174	153209149	2061411	67	23949											
VHL	7428	hgsc.bcm.edu	37	3	10183863	10183863	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5187-01A-01W-1477-10	TCGA-BP-5187-11A-01W-1477-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	b7a53f90-c15e-4b5d-9c9f-2e4818b2e5af	f355d7f7-5d7c-49e5-b272-76709cbfa0d7	g.chr3:10183863G>A	ENST00000256474.2	+	1	1172	c.332G>A	c.(331-333)aGc>aAc	p.S111N	VHL_ENST00000345392.2_Missense_Mutation_p.S111N|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	111	Involved in binding to CCT complex.		S -> C (in VHLD; type II).|S -> N (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S111N(5)|p.S111I(2)|p.S111fs*49(1)|p.?(1)|p.I109_R113del(1)|p.S111fs*22(1)|p.S111fs*45(1)|p.H110_S111del(1)|p.S111_Y112del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCATCCACAGCTACCGAGGT	0.692		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	14	Substitution - Missense(7)|Deletion - In frame(3)|Insertion - Frameshift(2)|Deletion - Frameshift(1)|Unknown(1)	kidney(14)	GRCh37	CM951280|HM971583	VHL	M							10	12	11					3																	10183863		1804	3758	5562	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.332G>A	3.37:g.10183863G>A	ENSP00000256474:p.Ser111Asn		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342270	0.61073	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99760	-6.66;-6.66	5.17	3.37	0.38596	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.096185	0.64402	N	0.000001	D	0.98532	0.9510	L	0.36672	1.1	0.21220	N	0.999751	B;B	0.27229	0.172;0.143	B;B	0.31686	0.134;0.091	D	0.99293	1.0899	10	0.54805	T	0.06	-5.879	4.2645	0.10757	0.0854:0.1565:0.5963:0.1618	.	111;111	P40337-2;P40337	.;VHL_HUMAN	N	111;111;29	ENSP00000256474:S111N;ENSP00000344757:S111N	ENSP00000256474:S111N	S	+	2	0	VHL	10158863	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.866000	0.56040	0.580000	0.29522	0.479000	0.44913	AGC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183863	G	A	10183863	3	1	437	1	0	0	0	0	1	0	0	0	17167	971	34	2	334	2	VHL	3	10183863	Missense_Mutation	SNP	G	TCGA-BP-5187-01A-01W-1477-10		10183863	187838567	1	23950											
ATP6V0B	533	hgsc.bcm.edu;ucsc.edu	37	1	44442331	44442331	+	Splice_Site	DEL	G	G	-			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:44442331delG	ENST00000472174.2	+	5	741	c.348delG	c.(346-348)gag>ga	p.E116fs	ATP6V0B_ENST00000236067.4_Splice_Site_p.E69fs|ATP6V0B_ENST00000498664.1_Splice_Site_p.E69fs|B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000471859.2_Splice_Site_p.E163fs|B4GALT2_ENST00000434555.2_5'Flank|ATP6V0B_ENST00000532642.1_Splice_Site_p.E116fs	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	116					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACATGGCTGAGGTATGGAAGG	0.483																																																0													101	93	96					1																	44442331		2203	4300	6503	SO:0001630	splice_region_variant	533			BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"ATPases / V-type"	861	protein-coding gene	gene with protein product		603717	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD", "ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.348+1G>-	1.37:g.44442331delG			D3DPY5|Q6IB32	Frame_Shift_Del	DEL	ENST00000472174.2	37	CCDS505.1																																																																																				0.483	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047	Frame_Shift_Del	-	44442331	G	-	44442331	8	5	438	1	0	1	0	1	0	0	1	0	1171	1014	35	0	366	0	ATP6V0B	1	44442331	Splice_Site	DEL	G	TCGA-BP-5189-01A-02D-1429-08		44442331	204808290	1	23951											
ROR1	4919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	64643611	64643611	+	Silent	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:64643611A>G	ENST00000371079.1	+	9	2262	c.1887A>G	c.(1885-1887)gtA>gtG	p.V629V	ROR1_ENST00000545203.1_Silent_p.V80V	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	629	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.V629V(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACTTCATGTAAAGATTTCAG	0.468																																																1	Substitution - coding silent(1)	kidney(1)											56	60	59					1																	64643611		2203	4300	6503	SO:0001819	synonymous_variant	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1887A>G	1.37:g.64643611A>G			Q5VVX6|Q66K77|Q92776	Silent	SNP	ENST00000371079.1	37	CCDS626.1																																																																																				0.468	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		G	64643611	A	G	64643611	2	3	438	1	0	0	0	0	0	0	0	1	13532	349	13	3		3	ROR1	1	64643611	Silent	SNP	A	TCGA-BP-5189-01A-02D-1429-08	20201280	64643611	184607010	2	23952											
SORT1	6272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109888450	109888450	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:109888450A>G	ENST00000256637.6	-	8	944	c.886T>C	c.(886-888)Ttc>Ctc	p.F296L	SORT1_ENST00000538502.1_Missense_Mutation_p.F159L	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	296					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.F296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ATAGTTTTGAAGCTTTTTCCC	0.408																																																1	Substitution - Missense(1)	kidney(1)											115	114	115					1																	109888450		2203	4300	6503	SO:0001583	missense	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.886T>C	1.37:g.109888450A>G	ENSP00000256637:p.Phe296Leu		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	a	11.49	1.654481	0.29425	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.25749	1.78;2.01	5.81	4.58	0.56647	VPS10 (1);	0.221632	0.47455	D	0.000234	T	0.09774	0.0240	L	0.52364	1.645	0.54753	D	0.99998	B;B	0.25312	0.007;0.123	B;B	0.20955	0.012;0.032	T	0.04579	-1.0941	10	0.11794	T	0.64	-21.3774	11.1394	0.48394	0.8523:0.0:0.0:0.1477	.	159;296	B4DWI3;Q99523	.;SORT_HUMAN	L	296;159	ENSP00000256637:F296L;ENSP00000438597:F159L	ENSP00000256637:F296L	F	-	1	0	SORT1	109689973	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.865000	0.39479	2.219000	0.72066	0.378000	0.23410	TTC		0.408	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		G	109888450	A	G	109888450	3	3	438	1	0	0	0	0	1	0	0	0	14941	72	3	3	1661	3	SORT1	1	109888450	Missense_Mutation	SNP	A	TCGA-BP-5189-01A-02D-1429-08	45244839	109888450	139362171	3	23953											
OTUD7B	56957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	149920957	149920957	+	Silent	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:149920957A>G	ENST00000369135.4	-	10	1446	c.1152T>C	c.(1150-1152)taT>taC	p.Y384Y		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	384	Catalytic.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.Y384Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCAGCAGCTTATACTCTGAAT	0.473																																																1	Substitution - coding silent(1)	kidney(1)											67	70	69					1																	149920957		2173	4289	6462	SO:0001819	synonymous_variant	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1152T>C	1.37:g.149920957A>G			B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	CCDS41389.1																																																																																				0.473	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		G	149920957	A	G	149920957	2	3	438	1	0	0	0	0	0	0	0	1	11321	456	16	3		3	OTUD7B	1	149920957	Silent	SNP	A	TCGA-BP-5189-01A-02D-1429-08	40032507	149920957	99329664	4	23954											
TMOD4	79005	hgsc.bcm.edu;ucsc.edu	37	1	151143053	151143054	+	IGR	DEL	AA	AA	-			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:151143053_151143054delAA	ENST00000368905.4	+	0	2016				TMOD4_ENST00000416280.2_Frame_Shift_Del_p.F250fs	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGCTGTGTAAAGTGGTAGCC	0.584																																																0																																										SO:0001628	intergenic_variant	29765			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258		1.37:g.151143053_151143054delAA			B4DWR1|Q5JR74	Frame_Shift_Del	DEL	ENST00000368905.4	37	CCDS987.1																																																																																				0.584	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2	NM_024041		-	151143054	AA	-	151143053	6	5	438	0	1	1	0	1	0	0	0	0	16241	359	13	0		0	TMOD4	1	151143053	IGR	DEL	AA	TCGA-BP-5189-01A-02D-1429-08	1222096	151143053	98107568	5	23955											
ATP1A2	477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160098797	160098797	+	Missense_Mutation	SNP	C	C	T	rs121918618		TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:160098797C>T	ENST00000361216.3	+	10	1333	c.1244C>T	c.(1243-1245)aCg>aTg	p.T415M	ATP1A2_ENST00000392233.3_Missense_Mutation_p.T415M	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	415					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.T415M(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGATCCCCTACGTGGACGGCC	0.577																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM072871	ATP1A2	M	rs121918618						42	35	37					1																	160098797		2203	4300	6503	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1244C>T	1.37:g.160098797C>T	ENSP00000354490:p.Thr415Met		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.65|16.65	3.183451|3.183451	0.57800|0.57800	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|T;T	.|0.79845	.|-1.31;-1.31	4.13|4.13	4.13|4.13	0.48395|0.48395	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.100878	.|0.64402	.|D	.|0.000003	D|D	0.83036|0.83036	0.5167|0.5167	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	A|A	0.999992|0.999992	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.85749|0.85749	0.1342|0.1342	4|9	.|0.87932	.|D	.|0	.|.	15.6667|15.6667	0.77236|0.77236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|415;315;415	.|B1AKY9;F5GXJ7;P50993	.|.;.;AT1A2_HUMAN	C|M	126|415;415;118	.|ENSP00000354490:T415M;ENSP00000376066:T415M	.|ENSP00000354490:T415M	R|T	+|+	1|2	0|0	ATP1A2|ATP1A2	158365421|158365421	1.000000|1.000000	0.71417|0.71417	0.031000|0.031000	0.17742|0.17742	0.170000|0.170000	0.22686|0.22686	7.651000|7.651000	0.83577|0.83577	2.306000|2.306000	0.77630|0.77630	0.561000|0.561000	0.74099|0.74099	CGT|ACG		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		T	160098797	C	T	160098797	3	4	438	1	0	0	0	0	1	0	0	0	1129	536	19	1	1282	1	ATP1A2	1	160098797	Missense_Mutation	SNP	C	TCGA-BP-5189-01A-02D-1429-08	8955744	160098797	89151824	6	23956											
NAT8	9027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73868095	73868095	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr2:73868095A>G	ENST00000272425.3	-	2	810	c.661T>C	c.(661-663)Tct>Cct	p.S221P		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)									p.S221P(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						ACCTTAGAAGAAGGGAGGTGG	0.483																																																1	Substitution - Missense(1)	kidney(1)											47	46	47					2																	73868095		2203	4300	6503	SO:0001583	missense	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.661T>C	2.37:g.73868095A>G	ENSP00000272425:p.Ser221Pro			Missense_Mutation	SNP	ENST00000272425.3	37	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	A	9.560	1.118338	0.20877	.	.	ENSG00000144035	ENST00000272425	T	0.33654	1.4	3.48	0.807	0.18714	.	0.372242	0.25941	N	0.027301	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	P	0.40578	0.722	B	0.38194	0.267	T	0.10941	-1.0608	10	0.42905	T	0.14	-8.319	4.2228	0.10567	0.5859:0.2108:0.0:0.2033	.	221	Q9UHE5	NAT8_HUMAN	P	221	ENSP00000272425:S221P	ENSP00000272425:S221P	S	-	1	0	NAT8	73721603	0.848000	0.29623	0.007000	0.13788	0.021000	0.10359	1.027000	0.30115	0.041000	0.15688	-0.349000	0.07799	TCT		0.483	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		G	73868095	A	G	73868095	3	3	438	1	0	0	0	0	1	0	0	0	10181	246	9	3	26	3	NAT8	2	73868095	Missense_Mutation	SNP	A	TCGA-BP-5189-01A-02D-1429-08		73868095	169331278	7	23957											
STAT4	6775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191900934	191900934	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr2:191900934C>A	ENST00000392320.2	-	17	1840	c.1526G>T	c.(1525-1527)gGt>gTt	p.G509V	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Missense_Mutation_p.G509V	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	509					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G509V(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGAGTTAAGACCACGACCAAC	0.448																																																1	Substitution - Missense(1)	kidney(1)											122	106	111					2																	191900934		2203	4300	6503	SO:0001583	missense	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1526G>T	2.37:g.191900934C>A	ENSP00000376134:p.Gly509Val		Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163882	0.94727	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.91407	-2.84;-2.84	5.83	5.83	0.93111	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95452	0.8523	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95294	0.8397	10	0.87932	D	0	-15.2788	20.1195	0.97955	0.0:1.0:0.0:0.0	.	418;509;509	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	V	509	ENSP00000351255:G509V;ENSP00000376134:G509V	ENSP00000351255:G509V	G	-	2	0	STAT4	191609179	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.818000	0.86416	2.759000	0.94783	0.650000	0.86243	GGT		0.448	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		A	191900934	C	A	191900934	3	1	438	1	0	0	0	0	1	0	0	0	15272	507	18	4	752	4	STAT4	2	191900934	Missense_Mutation	SNP	C	TCGA-BP-5189-01A-02D-1429-08	118032839	191900934	51298439	8	23958											
CLK1	1195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201719363	201719363	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr2:201719363G>C	ENST00000321356.4	-	11	1331	c.1196C>G	c.(1195-1197)cCa>cGa	p.P399R	CLK1_ENST00000434813.2_Missense_Mutation_p.P441R|CLK1_ENST00000409769.2_Missense_Mutation_p.P222R	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	399	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.P441R(1)|p.P399R(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CATATGTTTTGGTAGAGGTCC	0.333																																																2	Substitution - Missense(2)	kidney(2)											203	205	204					2																	201719363		2203	4300	6503	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1196C>G	2.37:g.201719363G>C	ENSP00000326830:p.Pro399Arg		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637688	0.87760	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.23147	1.92;1.92;1.92	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	M	0.87381	2.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.65327	-0.6195	10	0.87932	D	0	.	19.4145	0.94689	0.0:0.0:1.0:0.0	.	441;369;399;222	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	R	399;369;222;441	ENSP00000326830:P399R;ENSP00000386358:P222R;ENSP00000394734:P441R	ENSP00000326830:P399R	P	-	2	0	CLK1	201427608	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.397000	0.97276	2.757000	0.94681	0.563000	0.77884	CCA		0.333	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			C	201719363	G	C	201719363	3	2	438	1	0	0	0	0	1	0	0	0	3538	1348	47	4	270	4	CLK1	2	201719363	Missense_Mutation	SNP	G	TCGA-BP-5189-01A-02D-1429-08	9818429	201719363	41480010	9	23959											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu	37	3	52595822	52595822	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr3:52595822A>C	ENST00000296302.7	-	25	4250	c.4249T>G	c.(4249-4251)Tgg>Ggg	p.W1417G	PBRM1_ENST00000410007.1_Missense_Mutation_p.W1392G|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Missense_Mutation_p.W1365G|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000337303.4_Missense_Mutation_p.W1417G|PBRM1_ENST00000356770.4_Missense_Mutation_p.W1385G|PBRM1_ENST00000409114.3_Missense_Mutation_p.W1432G|PBRM1_ENST00000409767.1_Missense_Mutation_p.W1432G|PBRM1_ENST00000409057.1_Missense_Mutation_p.W1417G			Q86U86	PB1_HUMAN	polybromo 1	1417					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.W1417G(2)|p.W1385G(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGATTTCTCCATTCTGTCCCC	0.517			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											240	245	244					3																	52595822		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4249T>G	3.37:g.52595822A>C	ENSP00000296302:p.Trp1417Gly		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	17.69	3.453060	0.63290	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-5.93;-5.93;-5.93;-5.93	5.89	5.89	0.94794	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.981;0.998;0.996;0.998;0.999;0.998;0.996	D;D;D;D;D;D;D;D	0.83275	0.994;0.969;0.994;0.991;0.994;0.996;0.994;0.991	D	0.97562	1.0099	10	0.87932	D	0	-5.1481	16.3083	0.82859	1.0:0.0:0.0:0.0	.	1392;1365;1417;1432;1432;1417;1385;1417	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	G	1385;1365;1417;1417;1417;1392;1432;1432;1416	ENSP00000349213:W1385G;ENSP00000378307:W1365G;ENSP00000296302:W1417G;ENSP00000338302:W1417G;ENSP00000386593:W1417G;ENSP00000386529:W1392G;ENSP00000386643:W1432G;ENSP00000386601:W1432G;ENSP00000387775:W1416G	ENSP00000296302:W1417G	W	-	1	0	PBRM1	52570862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.250000	0.74265	0.455000	0.32223	TGG		0.517	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52595822	A	C	52595822	3	2	438	1	0	0	0	0	1	0	0	0	11493	217	8	5	675	5	PBRM1	3	52595822	Missense_Mutation	SNP	A	TCGA-BP-5189-01A-02D-1429-08		52595822	145426608	10	23960	184	2									
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52595829	52595829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr3:52595829delC	ENST00000296302.7	-	25	4243	c.4242delG	c.(4240-4242)gggfs	p.G1414fs	PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G1389fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G1362fs|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G1414fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.G1382fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G1429fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G1429fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G1414fs			Q86U86	PB1_HUMAN	polybromo 1	1414			G -> E (found in a lung cancer cell line). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCCATTCTGTCCCCACCAGGC	0.498			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													226	232	230					3																	52595829		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4242delG	3.37:g.52595829delC	ENSP00000296302:p.Gly1414fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.498	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52595829	C	-	52595829	7	5	438	1	0	1	0	1	0	0	0	0	11493	842	30	0	682	0	PBRM1	3	52595829	Frame_Shift_Del	DEL	C	TCGA-BP-5189-01A-02D-1429-08	7	52595829	145426601	11	23961	184	2									
GBA3	57733	broad.mit.edu;hgsc.bcm.edu	37	4	22749618	22749618	+	RNA	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr4:22749618A>G	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.D329G(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTCTCCAGGATGCGGAAATT	0.373																																																1	Substitution - Missense(1)	kidney(1)											45	43	44					4																	22749618		1825	4099	5924			57733			AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"klotho-related protein"	606619	"glucosidase, beta, acid 3 (cytosolic)"			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749618A>G			Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37																																																																																					0.373	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			G	22749618	A	G	22749618	1	3	438	0	1	0	0	0	0	0	0	0	6270	333	12	3		3	GBA3	4	22749618	RNA	SNP	A	TCGA-BP-5189-01A-02D-1429-08		22749618	168404658	12	23962											
EPHA5	2044	hgsc.bcm.edu;ucsc.edu	37	4	66189869	66189869	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr4:66189869delA	ENST00000273854.3	-	18	3677	c.3077delT	c.(3076-3078)atgfs	p.M1026fs	EPHA5_ENST00000432638.2_Frame_Shift_Del_p.M863fs|EPHA5_ENST00000354839.4_Frame_Shift_Del_p.M1004fs	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	1026	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTGCACCTTCATTTCTTGAAG	0.428										TSP Lung(17;0.13)																																						0													123	112	116					4																	66189869		2203	4300	6503	SO:0001589	frameshift_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.3077delT	4.37:g.66189869delA	ENSP00000273854:p.Met1026fs		Q7Z3F2	Frame_Shift_Del	DEL	ENST00000273854.3	37	CCDS3513.1																																																																																				0.428	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		-	66189869	A	-	66189869	7	5	438	1	0	1	0	1	0	0	0	0	5172	217	8	0	40	0	EPHA5	4	66189869	Frame_Shift_Del	DEL	A	TCGA-BP-5189-01A-02D-1429-08	43440251	66189869	124964407	13	23963											
ANKRD34B	340120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	79854670	79854670	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr5:79854670A>T	ENST00000338682.3	-	5	1841	c.1169T>A	c.(1168-1170)cTt>cAt	p.L390H		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	390						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L390H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTTTCCTATAAGTGCTTTGCC	0.463																																																1	Substitution - Missense(1)	kidney(1)											56	61	59					5																	79854670		2203	4300	6503	SO:0001583	missense	340120				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1169T>A	5.37:g.79854670A>T	ENSP00000339802:p.Leu390His		B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	A	6.047	0.377098	0.11466	.	.	ENSG00000189127	ENST00000338682	T	0.19806	2.12	6.17	5.02	0.67125	.	2.692750	0.02311	N	0.072071	T	0.23249	0.0562	L	0.36672	1.1	0.09310	N	1	P	0.51791	0.948	B	0.43155	0.41	T	0.17531	-1.0366	10	0.39692	T	0.17	-1.3107	8.6754	0.34176	0.8444:0.0:0.1556:0.0	.	390	A5PLL1	AN34B_HUMAN	H	390	ENSP00000339802:L390H	ENSP00000339802:L390H	L	-	2	0	ANKRD34B	79890426	0.008000	0.16893	0.001000	0.08648	0.768000	0.43524	2.424000	0.44714	1.168000	0.42723	0.533000	0.62120	CTT		0.463	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		T	79854670	A	T	79854670	3	4	438	1	0	0	0	0	1	0	0	0	663	72	3	5	379	5	ANKRD34B	5	79854670	Missense_Mutation	SNP	A	TCGA-BP-5189-01A-02D-1429-08		79854670	101060590	14	23964											
PPP2R2B	5521	broad.mit.edu;hgsc.bcm.edu	37	5	145980011	145980011	+	Missense_Mutation	SNP	G	G	A	rs148423117		TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr5:145980011G>A	ENST00000394413.3	-	7	1373	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PPP2R2B_ENST00000394414.1_Missense_Mutation_p.P334L|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.P268L|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.P268L|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.P326L|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.P257L|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.P268L|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.P257L|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.P271L|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.P274L			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	268					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.P271L(3)|p.P326L(2)|p.P268L(1)|p.P257L(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATCTTCCGGCTCTTCAAA	0.413																																																7	Substitution - Missense(7)	kidney(4)|large_intestine(3)						G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	56	56	56		803,803,803,803,812,743,770	5.8	1	5	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	98,98,98,98,98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	268/444,268/444,268/444,268/444,271/447,248/424,257/433	145980011	1,13005	2203	4300	6503	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.803C>T	5.37:g.145980011G>A	ENSP00000377935:p.Pro268Leu		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928122	0.73327	2.27E-4	0.0	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.79475	2.455	0.80722	D	1	P;P;P;P;P;P	0.43750	0.816;0.816;0.816;0.664;0.705;0.816	B;B;B;B;B;B	0.34590	0.13;0.186;0.134;0.13;0.035;0.186	T	0.43637	-0.9379	10	0.51188	T	0.08	-22.597	20.0467	0.97609	0.0:0.0:1.0:0.0	.	326;274;257;334;271;268	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	L	268;257;334;268;268;268;257;271;274;326	ENSP00000377935:P268L;ENSP00000431320:P257L;ENSP00000377936:P334L;ENSP00000377933:P268L;ENSP00000349283:P268L;ENSP00000398779:P268L;ENSP00000377932:P257L;ENSP00000336591:P271L;ENSP00000421396:P274L;ENSP00000377931:P326L	ENSP00000336591:P271L	P	-	2	0	AC011357.1	145960204	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	9.869000	0.99810	2.749000	0.94314	0.655000	0.94253	CCG		0.413	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		A	145980011	G	A	145980011	3	1	438	1	0	0	0	0	1	0	0	0	12390	1116	39	1	540	1	PPP2R2B	5	145980011	Missense_Mutation	SNP	G	TCGA-BP-5189-01A-02D-1429-08	66125341	145980011	34935249	15	23965											
UBLCP1	134510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	158696067	158696067	+	Silent	SNP	C	C	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr5:158696067C>G	ENST00000296786.6	+	2	470	c.144C>G	c.(142-144)ctC>ctG	p.L48L		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	48	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)	p.L48L(1)		endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTTGGACTCAAAGTTAAAG	0.318																																																1	Substitution - coding silent(1)	kidney(1)											82	79	80					5																	158696067		2203	4300	6503	SO:0001819	synonymous_variant	134510			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.144C>G	5.37:g.158696067C>G			D3DQJ7|Q96DK5	Silent	SNP	ENST00000296786.6	37	CCDS4345.1																																																																																				0.318	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		G	158696067	C	G	158696067	2	3	438	1	0	0	0	0	0	0	0	1	16896	813	29	4		4	UBLCP1	5	158696067	Silent	SNP	C	TCGA-BP-5189-01A-02D-1429-08	12716056	158696067	22219193	16	23966											
SLC29A1	2030	broad.mit.edu	37	6	44200593	44200593	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr6:44200593T>G	ENST00000393841.1	+	13	1600	c.1109T>G	c.(1108-1110)gTg>gGg	p.V370G	SLC29A1_ENST00000371724.1_Missense_Mutation_p.V370G|SLC29A1_ENST00000427851.2_Missense_Mutation_p.V370G|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V370G|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V370G|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V370G|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V370G|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V370G|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V370G|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V449G	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	370					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.V370G(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GCCCGGCTGGTGTTTGTGCCA	0.647																																																1	Substitution - Missense(1)	kidney(1)											60	45	50					6																	44200593		2203	4300	6503	SO:0001583	missense	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1109T>G	6.37:g.44200593T>G	ENSP00000377424:p.Val370Gly		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362935	0.61403	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.56	0.455	0.16649	.	0.565114	0.18177	N	0.149277	T	0.61540	0.2355	L	0.52364	1.645	0.58432	D	0.999998	P;P	0.49696	0.759;0.927	P;P	0.49853	0.624;0.609	T	0.58470	-0.7631	10	0.41790	T	0.15	-8.1844	5.0614	0.14559	0.1236:0.2045:0.0:0.6719	.	449;370	B3KQV7;Q99808	.;S29A1_HUMAN	G	370;449;370;370;370;370;370;370;370;370	ENSP00000377427:V370G;ENSP00000319152:V449G;ENSP00000392668:V370G;ENSP00000360820:V370G;ENSP00000360805:V370G;ENSP00000360796:V370G;ENSP00000377424:V370G;ENSP00000360789:V370G;ENSP00000360778:V370G;ENSP00000360773:V370G	ENSP00000319152:V449G	V	+	2	0	SLC29A1	44308571	1.000000	0.71417	0.002000	0.10522	0.930000	0.56654	4.270000	0.58896	-0.143000	0.11334	-0.250000	0.11733	GTG		0.647	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			G	44200593	T	G	44200593	3	3	438	1	0	0	0	0	1	0	0	0	14540	1696	59	5	1151	5	SLC29A1	6	44200593	Missense_Mutation	SNP	T	TCGA-BP-5189-01A-02D-1429-08		44200593	126914474	17	23967											
SASH1	23328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	148853944	148853944	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr6:148853944G>C	ENST00000367467.3	+	14	2051	c.1576G>C	c.(1576-1578)Gtg>Ctg	p.V526L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	526					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.V526L(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGGTCAAACAGTGAGCACCAC	0.537																																																1	Substitution - Missense(1)	kidney(1)											88	92	91					6																	148853944		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1576G>C	6.37:g.148853944G>C	ENSP00000356437:p.Val526Leu		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262003	0.80358	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.53640	0.61	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	M	0.68317	2.08	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.66221	-0.5978	10	0.66056	D	0.02	-20.7431	18.9255	0.92541	0.0:0.0:1.0:0.0	.	507;526	Q6P4R9;O94885	.;SASH1_HUMAN	L	526;287	ENSP00000356437:V526L	ENSP00000356437:V526L	V	+	1	0	SASH1	148895637	1.000000	0.71417	0.530000	0.27963	0.393000	0.30537	7.628000	0.83189	2.477000	0.83638	0.655000	0.94253	GTG		0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		C	148853944	G	C	148853944	3	2	438	1	0	0	0	0	1	0	0	0	13854	1029	36	4	1630	4	SASH1	6	148853944	Missense_Mutation	SNP	G	TCGA-BP-5189-01A-02D-1429-08	104653351	148853944	22261123	18	23968											
AKAP9	10142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91736718	91736718	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr7:91736718C>T	ENST00000359028.2	+	48	11765	c.11540C>T	c.(11539-11541)cCt>cTt	p.P3847L	AKAP9_ENST00000356239.3_Missense_Mutation_p.P3843L|AKAP9_ENST00000358100.2_Missense_Mutation_p.P3793L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3847					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.P3847L(1)|p.P3843L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTAGGTCCCCTTTACCATTT	0.358			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	kidney(2)											108	103	105					7																	91736718		2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11540C>T	7.37:g.91736718C>T	ENSP00000351922:p.Pro3847Leu		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	15.35	2.808123	0.50421	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.04049	3.79;3.79;3.82;3.72	5.31	3.5	0.40072	.	0.216607	0.23581	N	0.046645	T	0.04048	0.0113	N	0.19112	0.55	0.41857	D	0.990203	B;B;B;B;B	0.19583	0.007;0.037;0.022;0.037;0.037	B;B;B;B;B	0.19148	0.006;0.024;0.011;0.024;0.024	T	0.45702	-0.9243	10	0.37606	T	0.19	.	12.2514	0.54599	0.0:0.8646:0.0:0.1354	.	1118;3847;3847;3843;3835	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	L	3843;3847;3793;3847;1689	ENSP00000348573:P3843L;ENSP00000351922:P3847L;ENSP00000350813:P3793L;ENSP00000378042:P1689L	ENSP00000348573:P3843L	P	+	2	0	AKAP9	91574654	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	2.666000	0.46799	0.809000	0.34255	0.655000	0.94253	CCT		0.358	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91736718	C	T	91736718	3	4	438	1	0	0	0	0	1	0	0	0	459	681	24	2	11718	2	AKAP9	7	91736718	Missense_Mutation	SNP	C	TCGA-BP-5189-01A-02D-1429-08		91736718	67401945	19	23969											
ZNF212	7988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148947875	148947875	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr7:148947875A>G	ENST00000335870.2	+	3	646	c.518A>G	c.(517-519)aAc>aGc	p.N173S		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	173	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.N173S(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			ATGGAGAGTAACTATGAGACA	0.483																																																1	Substitution - Missense(1)	kidney(1)											176	171	173					7																	148947875		2203	4300	6503	SO:0001583	missense	7988			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.518A>G	7.37:g.148947875A>G	ENSP00000338572:p.Asn173Ser		B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621268	0.66787	.	.	ENSG00000170260	ENST00000335870	T	0.03635	3.86	5.61	1.97	0.26223	Krueppel-associated box (4);	0.000000	0.53938	D	0.000056	T	0.14399	0.0348	M	0.83012	2.62	0.28724	N	0.902878	D	0.76494	0.999	D	0.87578	0.998	T	0.04650	-1.0936	10	0.72032	D	0.01	-21.7404	4.6208	0.12449	0.5983:0.1548:0.2469:0.0	.	173	Q9UDV6	ZN212_HUMAN	S	173	ENSP00000338572:N173S	ENSP00000338572:N173S	N	+	2	0	ZNF212	148578808	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	3.338000	0.52128	0.101000	0.17610	0.533000	0.62120	AAC		0.483	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		G	148947875	A	G	148947875	3	3	438	1	0	0	0	0	1	0	0	0	17773	43	2	3	528	3	ZNF212	7	148947875	Missense_Mutation	SNP	A	TCGA-BP-5189-01A-02D-1429-08	57211157	148947875	10190788	20	23970											
CTSB	1508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	11703216	11703216	+	Silent	SNP	G	G	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr8:11703216G>T	ENST00000353047.6	-	9	1129	c.876C>A	c.(874-876)ccC>ccA	p.P292P	CTSB_ENST00000531089.1_Silent_p.P292P|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000345125.3_Silent_p.P292P|CTSB_ENST00000530640.2_Silent_p.P292P|CTSB_ENST00000534510.1_Silent_p.P292P|CTSB_ENST00000533455.1_Silent_p.P292P|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000434271.1_Silent_p.P292P|CTSB_ENST00000453527.2_Silent_p.P292P|CTSB_ENST00000525076.1_5'Flank	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	292					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.P292P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCAGCCAGTAGGGTGTGCCAT	0.577																																																1	Substitution - coding silent(1)	kidney(1)											133	83	100					8																	11703216		2203	4300	6503	SO:0001819	synonymous_variant	1508			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"Cathepsins"	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.876C>A	8.37:g.11703216G>T			B3KQR5|B3KRR5|Q503A6|Q96D87	Silent	SNP	ENST00000353047.6	37	CCDS5986.1																																																																																				0.577	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		T	11703216	G	T	11703216	2	4	438	1	0	0	0	0	0	0	0	1	4032	987	35	4		4	CTSB	8	11703216	Silent	SNP	G	TCGA-BP-5189-01A-02D-1429-08		11703216	134660806	21	23971											
COLEC10	10584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	120118232	120118232	+	Silent	SNP	T	T	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr8:120118232T>C	ENST00000332843.2	+	6	677	c.636T>C	c.(634-636)aaT>aaC	p.N212N		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	212	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.N212N(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TTGGCGTGAATGACCTTGAAA	0.522																																																1	Substitution - coding silent(1)	kidney(1)											123	106	112					8																	120118232		2203	4300	6503	SO:0001819	synonymous_variant	10584			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.636T>C	8.37:g.120118232T>C			Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	CCDS6327.1																																																																																				0.522	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			C	120118232	T	C	120118232	2	2	438	1	0	0	0	0	0	0	0	1	3712	1461	51	3		3	COLEC10	8	120118232	Silent	SNP	T	TCGA-BP-5189-01A-02D-1429-08	108415016	120118232	26245790	22	23972											
CYP11B2	1585	broad.mit.edu	37	8	143994277	143994277	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr8:143994277C>A	ENST00000323110.2	-	7	1148	c.1146G>T	c.(1144-1146)ttG>ttT	p.L382F		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	382					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L382F(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CCACTCGCTCCAAAAACAGAC	0.597									Familial Hyperaldosteronism type I																																							1	Substitution - Missense(1)	kidney(1)											72	68	69					8																	143994277		2203	4300	6503	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1146G>T	8.37:g.143994277C>A	ENSP00000325822:p.Leu382Phe		B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.455197	0.43634	.	.	ENSG00000179142	ENST00000323110	T	0.73681	-0.77	2.85	2.85	0.33270	.	0.786753	0.10755	N	0.637818	T	0.79203	0.4406	L	0.57130	1.785	0.31124	N	0.708538	P	0.44478	0.836	P	0.59171	0.853	T	0.74006	-0.3803	10	0.42905	T	0.14	.	5.841	0.18633	0.0:0.8549:0.0:0.1451	.	382	P19099	C11B2_HUMAN	F	382	ENSP00000325822:L382F	ENSP00000325822:L382F	L	-	3	2	CYP11B2	143991279	0.990000	0.36364	0.055000	0.19348	0.003000	0.03518	1.173000	0.31920	1.879000	0.54435	0.563000	0.77884	TTG		0.597	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			A	143994277	C	A	143994277	3	1	438	1	0	0	0	0	1	0	0	0	4148	593	21	4	377	4	CYP11B2	8	143994277	Missense_Mutation	SNP	C	TCGA-BP-5189-01A-02D-1429-08	23876045	143994277	2369745	23	23973											
TNC	3371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	117848654	117848654	+	Silent	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr9:117848654G>A	ENST00000350763.4	-	3	1767	c.1356C>T	c.(1354-1356)ggC>ggT	p.G452G	TNC_ENST00000423613.2_Silent_p.G452G|TNC_ENST00000345230.3_Silent_p.G452G|TNC_ENST00000542877.1_Silent_p.G452G|TNC_ENST00000346706.3_Silent_p.G452G|TNC_ENST00000341037.4_Silent_p.G452G|TNC_ENST00000340094.3_Silent_p.G452G|TNC_ENST00000535648.1_Silent_p.G452G|TNC_ENST00000537320.1_Silent_p.G452G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	452	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.G452G(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATACACATTTGCCCTCGACAC	0.567																																																1	Substitution - coding silent(1)	kidney(1)											135	125	129					9																	117848654		2203	4300	6503	SO:0001819	synonymous_variant	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1356C>T	9.37:g.117848654G>A			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																				0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117848654	G	A	117848654	2	1	438	1	0	0	0	0	0	0	0	1	16275	1306	46	2		2	TNC	9	117848654	Silent	SNP	G	TCGA-BP-5189-01A-02D-1429-08		117848654	23364777	24	23974											
C10orf71	118461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	50532616	50532616	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr10:50532616G>A	ENST00000374144.3	+	3	2314	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	C10orf71_ENST00000323868.4_Missense_Mutation_p.V676M			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	676								p.V676M(2)		endometrium(1)	1						CTCCAGATCTGTGTCCCAAGA	0.522																																																2	Substitution - Missense(2)	kidney(2)											40	43	42					10																	50532616		1874	4103	5977	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2026G>A	10.37:g.50532616G>A	ENSP00000363259:p.Val676Met		A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.051711	0.55218	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.17370	2.28;3.51	5.64	-6.78	0.01721	.	0.996046	0.08123	N	0.994471	T	0.16769	0.0403	L	0.36672	1.1	0.09310	N	1	P	0.44380	0.834	P	0.48627	0.584	T	0.32534	-0.9903	10	0.62326	D	0.03	.	9.7166	0.40278	0.7006:0.0:0.212:0.0874	.	676	Q711Q0-3	.	M	676	ENSP00000318713:V676M;ENSP00000363259:V676M	ENSP00000318713:V676M	V	+	1	0	C10orf71	50202622	0.001000	0.12720	0.464000	0.27143	0.686000	0.39977	-0.834000	0.04391	-1.089000	0.03073	-0.469000	0.05056	GTG		0.522	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		A	50532616	G	A	50532616	3	1	438	1	0	0	0	0	1	0	0	0	1616	1377	48	2	2028	2	C10orf71	10	50532616	Missense_Mutation	SNP	G	TCGA-BP-5189-01A-02D-1429-08		50532616	85002131	25	23975											
ADAMTS14	140766	broad.mit.edu;hgsc.bcm.edu	37	10	72496510	72496510	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr10:72496510G>T	ENST00000373207.1	+	10	1560	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.K523N	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	520	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K523N(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGACCAAGAAGGGGCCCCCGC	0.617																																																1	Substitution - Missense(1)	kidney(1)											84	76	79					10																	72496510		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1560G>T	10.37:g.72496510G>T	ENSP00000362303:p.Lys520Asn		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663179	0.67700	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.62941	-0.01;-0.01	3.62	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	L	0.28649	0.875	0.44719	D	0.997717	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.986;0.993	T	0.60146	-0.7320	10	0.27785	T	0.31	.	10.9255	0.47189	0.096:0.0:0.904:0.0	.	453;520;523	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	N	523;520	ENSP00000362304:K523N;ENSP00000362303:K520N	ENSP00000362303:K520N	K	+	3	2	ADAMTS14	72166516	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.011000	0.29911	2.320000	0.78422	0.467000	0.42956	AAG		0.617	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		T	72496510	G	T	72496510	3	4	438	1	0	0	0	0	1	0	0	0	259	991	35	4	1607	4	ADAMTS14	10	72496510	Missense_Mutation	SNP	G	TCGA-BP-5189-01A-02D-1429-08	21963894	72496510	63038237	26	23976											
CCDC147	159686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	106209950	106209950	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr10:106209950A>T	ENST00000369704.3	+	17	2632	c.2498A>T	c.(2497-2499)gAa>gTa	p.E833V		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		833						extracellular space (GO:0005615)		p.E833V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AAACGTAAAGAACAACTTCAA	0.333																																																1	Substitution - Missense(1)	kidney(1)											71	73	72					10																	106209950		2203	4299	6502	SO:0001583	missense	159686																														ENST00000369704.3:c.2498A>T	10.37:g.106209950A>T	ENSP00000358718:p.Glu833Val		D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141574	0.77775	.	.	ENSG00000120051	ENST00000369704	T	0.43688	0.94	5.76	5.76	0.90799	.	0.223459	0.45867	D	0.000336	T	0.65302	0.2678	M	0.83012	2.62	0.80722	D	1	D	0.58268	0.982	P	0.62885	0.908	T	0.66870	-0.5814	10	0.38643	T	0.18	-18.8194	16.0745	0.80960	1.0:0.0:0.0:0.0	.	833	Q5T655	CC147_HUMAN	V	833	ENSP00000358718:E833V	ENSP00000358718:E833V	E	+	2	0	CCDC147	106199940	1.000000	0.71417	0.964000	0.40570	0.826000	0.46750	5.984000	0.70548	2.201000	0.70794	0.528000	0.53228	GAA		0.333	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			T	106209950	A	T	106209950	3	4	438	1	0	0	0	0	1	0	0	0	2783	246	9	5	2564	5	CCDC147	10	106209950	Missense_Mutation	SNP	A	TCGA-BP-5189-01A-02D-1429-08	33713440	106209950	29324797	27	23977											
PLEKHA7	144100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	16838838	16838838	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr11:16838838C>T	ENST00000355661.3	-	11	1385	c.1375G>A	c.(1375-1377)Ggt>Agt	p.G459S	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G459S|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G459S|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	459					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.G459S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGCCAGGACCCTGGCGAGGA	0.602																																																1	Substitution - Missense(1)	kidney(1)											43	49	47					11																	16838838		2191	4282	6473	SO:0001583	missense	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1375G>A	11.37:g.16838838C>T	ENSP00000347883:p.Gly459Ser		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745878	0.49151	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06528	3.31;3.29;3.29	4.6	4.6	0.57074	.	0.289804	0.38548	N	0.001650	T	0.12347	0.0300	L	0.50333	1.59	0.38244	D	0.941403	B;P;D;P	0.55605	0.094;0.594;0.972;0.945	B;B;P;P	0.50440	0.027;0.293;0.449;0.641	T	0.26430	-1.0103	10	0.22109	T	0.4	-12.741	17.4204	0.87513	0.0:1.0:0.0:0.0	.	33;459;459;459	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.;.;PKHA7_HUMAN;.	S	459	ENSP00000435389:G459S;ENSP00000347883:G459S;ENSP00000416895:G459S	ENSP00000347883:G459S	G	-	1	0	PLEKHA7	16795414	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.156000	0.58138	2.119000	0.64992	0.462000	0.41574	GGT		0.602	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		T	16838838	C	T	16838838	3	4	438	1	0	0	0	0	1	0	0	0	12063	623	22	2	2042	2	PLEKHA7	11	16838838	Missense_Mutation	SNP	C	TCGA-BP-5189-01A-02D-1429-08		16838838	118167678	28	23978											
PLEKHA7	144100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	16847952	16847952	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr11:16847952T>G	ENST00000355661.3	-	10	1068	c.1058A>C	c.(1057-1059)gAg>gCg	p.E353A	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E353A|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E353A|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	353					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.E353A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCGCTTGCCCTCCAGTGGGTC	0.592																																																1	Substitution - Missense(1)	kidney(1)											79	67	71					11																	16847952		2200	4294	6494	SO:0001583	missense	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1058A>C	11.37:g.16847952T>G	ENSP00000347883:p.Glu353Ala		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906771	0.52333	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.08008	3.14;3.16;3.15	5.15	5.15	0.70609	.	0.423167	0.26231	N	0.025580	T	0.09423	0.0232	L	0.46157	1.445	0.42739	D	0.993733	B;B;B	0.33940	0.366;0.172;0.433	B;B;B	0.30029	0.052;0.038;0.11	T	0.16335	-1.0406	10	0.34782	T	0.22	-31.684	15.1284	0.72500	0.0:0.0:0.0:1.0	.	353;353;353	E9PKC0;Q6IQ23;Q6IQ23-2	.;PKHA7_HUMAN;.	A	353	ENSP00000435389:E353A;ENSP00000347883:E353A;ENSP00000416895:E353A	ENSP00000347883:E353A	E	-	2	0	PLEKHA7	16804528	1.000000	0.71417	0.965000	0.40720	0.782000	0.44232	4.266000	0.58871	2.170000	0.68504	0.454000	0.30748	GAG		0.592	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		G	16847952	T	G	16847952	3	3	438	1	0	0	0	0	1	0	0	0	12063	1551	54	5	2363	5	PLEKHA7	11	16847952	Missense_Mutation	SNP	T	TCGA-BP-5189-01A-02D-1429-08	9114	16847952	118158564	29	23979											
OR4C3	256144	broad.mit.edu;hgsc.bcm.edu	37	11	48346849	48346849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr11:48346849T>A	ENST00000319856.4	+	1	378	c.357T>A	c.(355-357)taT>taA	p.Y119*		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y119*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCATCTCTTATGAGTGCTGCA	0.443																																																1	Substitution - Nonsense(1)	kidney(1)											258	245	250					11																	48346849		2201	4298	6499	SO:0001587	stop_gained	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.357T>A	11.37:g.48346849T>A	ENSP00000321419:p.Tyr119*		B2RNF2|Q6IFB3	Nonsense_Mutation	SNP	ENST00000319856.4	37	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208873	0.58343	.	.	ENSG00000176547	ENST00000319856	.	.	.	5.78	0.907	0.19321	.	0.986829	0.08246	N	0.975403	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	4.4615	0.11668	0.1393:0.3091:0.0:0.5516	.	.	.	.	X	119	.	ENSP00000321419:Y119X	Y	+	3	2	OR4C3	48303425	0.000000	0.05858	0.000000	0.03702	0.887000	0.51463	-0.771000	0.04699	-0.066000	0.12998	0.391000	0.25812	TAT		0.443	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		A	48346849	T	A	48346849	4	1	438	1	0	0	0	0	0	1	0	0	11052	1471	51	5	359	5	OR4C3	11	48346849	Nonsense_Mutation	SNP	T	TCGA-BP-5189-01A-02D-1429-08	31498897	48346849	86659667	30	23980											
ULK1	8408	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	132400471	132400471	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr12:132400471G>A	ENST00000321867.4	+	19	1996	c.1645G>A	c.(1645-1647)Ggg>Agg	p.G549R	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	549					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.G549R(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCGCACTTCCGGGCTGGGCTG	0.692																																																1	Substitution - Missense(1)	kidney(1)											38	45	43					12																	132400471		2203	4295	6498	SO:0001583	missense	8408			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1645G>A	12.37:g.132400471G>A	ENSP00000324560:p.Gly549Arg		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.440924	0.63067	.	.	ENSG00000177169	ENST00000321867	T	0.38887	1.11	5.48	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58803	-0.7572	10	0.08179	T	0.78	-30.6506	14.1131	0.65134	0.0724:0.0:0.9276:0.0	.	549	O75385	ULK1_HUMAN	R	549	ENSP00000324560:G549R	ENSP00000324560:G549R	G	+	1	0	ULK1	130966424	1.000000	0.71417	0.557000	0.28306	0.133000	0.20885	8.671000	0.91174	1.322000	0.45245	0.561000	0.74099	GGG		0.692	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			A	132400471	G	A	132400471	3	1	438	1	0	0	0	0	1	0	0	0	16980	1116	39	1	1719	1	ULK1	12	132400471	Missense_Mutation	SNP	G	TCGA-BP-5189-01A-02D-1429-08		132400471	1451424	31	23981											
RALGAPA1	253959	broad.mit.edu;hgsc.bcm.edu	37	14	36125081	36125081	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr14:36125081C>T	ENST00000389698.3	-	28	4300	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.E1351K|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E1304K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E1317K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1304					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.E1304K(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGACTAGTTCTTCACAAATC	0.348																																																2	Substitution - Missense(2)	kidney(2)											113	113	113					14																	36125081		2203	4297	6500	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3910G>A	14.37:g.36125081C>T	ENSP00000374348:p.Glu1304Lys		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354086	0.95830	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.36	5.36	0.76844	.	0.048380	0.85682	D	0.000000	T	0.57725	0.2073	M	0.72894	2.215	0.54753	D	0.999986	D;D;D;P	0.89917	0.999;0.998;1.0;0.768	D;D;D;P	0.83275	0.996;0.965;0.987;0.517	T	0.60702	-0.7211	10	0.72032	D	0.01	-16.7485	19.0796	0.93177	0.0:1.0:0.0:0.0	.	1351;1317;1304;1304	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	K	1304;1304;1304;1351;1317;1351	ENSP00000374348:E1304K;ENSP00000302647:E1304K;ENSP00000258840:E1351K;ENSP00000371803:E1317K;ENSP00000451877:E1351K	ENSP00000258840:E1351K	E	-	1	0	RALGAPA1	35194832	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.331000	0.79192	2.489000	0.83994	0.655000	0.94253	GAA		0.348	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		T	36125081	C	T	36125081	3	4	438	1	0	0	0	0	1	0	0	0	13019	922	32	2	2405	2	RALGAPA1	14	36125081	Missense_Mutation	SNP	C	TCGA-BP-5189-01A-02D-1429-08		36125081	71224459	32	23982											
KIAA0586	9786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58937442	58937442	+	Splice_Site	SNP	G	G	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr14:58937442G>T	ENST00000556134.1	+	18	2782		c.e18+1		KIAA0586_ENST00000354386.6_Splice_Site|KIAA0586_ENST00000261244.5_Splice_Site|KIAA0586_ENST00000538571.2_Splice_Site|KIAA0586_ENST00000423743.3_Splice_Site	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.?(2)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGGATAAAGGTATATTTCAG	0.318																																																2	Unknown(2)	kidney(2)											77	71	73					14																	58937442		1854	4097	5951	SO:0001630	splice_region_variant	9786			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2508+1G>T	14.37:g.58937442G>T			B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Splice_Site	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596835	0.46318	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0098	0.92868	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0586	58007195	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	4.629000	0.61290	2.724000	0.93272	0.585000	0.79938	.		0.318	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	Intron	T	58937442	G	T	58937442	5	4	438	1	0	0	0	0	0	0	1	0	8188	1275	44	4	2388	4	KIAA0586	14	58937442	Splice_Site	SNP	G	TCGA-BP-5189-01A-02D-1429-08	22812361	58937442	48412098	33	23983											
SIPA1L1	26037	hgsc.bcm.edu;ucsc.edu	37	14	72117112	72117112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr14:72117112delG	ENST00000555818.1	+	5	2227	c.1879delG	c.(1879-1881)gagfs	p.E627fs	SIPA1L1_ENST00000381232.3_Frame_Shift_Del_p.E627fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Del_p.E102fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Del_p.E627fs	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	627	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CACTGAAGAAGAGATGTACAA	0.448																																																0													177	170	172					14																	72117112		2203	4300	6503	SO:0001589	frameshift_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1879delG	14.37:g.72117112delG	ENSP00000450832:p.Glu627fs		J3KP19|O95321|Q9UDU4|Q9UNU4	Frame_Shift_Del	DEL	ENST00000555818.1	37	CCDS9807.1																																																																																				0.448	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		-	72117112	G	-	72117112	7	5	438	1	0	1	0	1	0	0	0	0	14335	943	33	0	1893	0	SIPA1L1	14	72117112	Frame_Shift_Del	DEL	G	TCGA-BP-5189-01A-02D-1429-08	13179670	72117112	35232428	34	23984											
EIF2B2	8892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75475794	75475794	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr14:75475794T>C	ENST00000266126.5	+	8	1039	c.959T>C	c.(958-960)cTc>cCc	p.L320P	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	320					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.L320P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CCCCCAGAGCTCATTACCCTC	0.483																																																1	Substitution - Missense(1)	kidney(1)											387	313	338					14																	75475794		2203	4300	6503	SO:0001583	missense	8892				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.959T>C	14.37:g.75475794T>C	ENSP00000266126:p.Leu320Pro		O43201	Missense_Mutation	SNP	ENST00000266126.5	37	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848515	0.91277	.	.	ENSG00000119718	ENST00000266126	D	0.97279	-4.32	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99686	1.1000	10	0.72032	D	0.01	-19.4631	16.0745	0.80960	0.0:0.0:0.0:1.0	.	320	P49770	EI2BB_HUMAN	P	320	ENSP00000266126:L320P	ENSP00000266126:L320P	L	+	2	0	EIF2B2	74545547	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.040000	0.89188	2.201000	0.70794	0.528000	0.53228	CTC		0.483	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		C	75475794	T	C	75475794	3	2	438	1	0	0	0	0	1	0	0	0	5003	1551	54	3	989	3	EIF2B2	14	75475794	Missense_Mutation	SNP	T	TCGA-BP-5189-01A-02D-1429-08	3358682	75475794	31873746	35	23985											
RYR3	6263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	33822793	33822793	+	Splice_Site	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr15:33822793G>A	ENST00000389232.4	+	4	350	c.280G>A	c.(280-282)Gca>Aca	p.A94T	RYR3_ENST00000415757.3_Splice_Site_p.A94T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	94					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)	p.A94T(1)		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)		ATTCCCACAGGCAGCACAAGG	0.532																																																1	Substitution - Missense(1)	kidney(1)											54	53	53					15																	33822793		1970	4149	6119	SO:0001630	splice_region_variant	6263				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.280-1G>A	15.37:g.33822793G>A			O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312977	0.40895	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98602	-5.02;-5.02	5.76	5.76	0.90799	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.061325	0.64402	D	0.000004	D	0.94162	0.8127	N	0.13235	0.315	0.58432	D	0.999993	B;B	0.15473	0.011;0.013	B;B	0.14023	0.006;0.01	D	0.91021	0.4857	9	.	.	.	.	13.6844	0.62506	0.0:0.0:0.8455:0.1545	.	94;94	Q15413-2;Q15413	.;RYR3_HUMAN	T	94	ENSP00000373884:A94T;ENSP00000399610:A94T	.	A	+	1	0	RYR3	31610085	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.246000	0.65411	2.713000	0.92767	0.655000	0.94253	GCA		0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation	A	33822793	G	A	33822793	5	1	438	1	0	0	0	0	0	0	1	0	13776	1217	42	2	294	2	RYR3	15	33822793	Splice_Site	SNP	G	TCGA-BP-5189-01A-02D-1429-08		33822793	68708599	36	23986											
PARP16	54956	broad.mit.edu;ucsc.edu	37	15	65551800	65551800	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr15:65551800A>C	ENST00000444347.2	-	4	985	c.569T>G	c.(568-570)gTg>gGg	p.V190G	PARP16_ENST00000261888.6_Missense_Mutation_p.V306G			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	305	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)	p.V306G(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GATGACACTCACTATGAGCAG	0.483																																					NSCLC(50;885 1163 13509 21242 41978)											1	Substitution - Missense(1)	kidney(1)											130	128	129					15																	65551800		2201	4299	6500	SO:0001583	missense	54956			AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"Poly (ADP-ribose) polymerases"	26040	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 30"	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.569T>G	15.37:g.65551800A>C	ENSP00000396118:p.Val190Gly		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.282395	0.80692	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.54279	0.6;0.58	5.86	5.86	0.93980	.	0.211092	0.47852	D	0.000220	T	0.50650	0.1628	N	0.24115	0.695	0.80722	D	1	D;P;P	0.53151	0.958;0.925;0.93	P;B;B	0.50754	0.649;0.346;0.446	T	0.56300	-0.8002	10	0.87932	D	0	-16.746	15.4264	0.75055	1.0:0.0:0.0:0.0	.	306;190;305	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	G	306;190	ENSP00000261888:V306G;ENSP00000396118:V190G	ENSP00000261888:V306G	V	-	2	0	PARP16	63338853	1.000000	0.71417	0.938000	0.37757	0.996000	0.88848	8.657000	0.91106	2.241000	0.73720	0.533000	0.62120	GTG		0.483	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		C	65551800	A	C	65551800	3	2	438	1	0	0	0	0	1	0	0	0	11462	159	6	5	58	5	PARP16	15	65551800	Missense_Mutation	SNP	A	TCGA-BP-5189-01A-02D-1429-08	31729007	65551800	36979592	37	23987											
LOXL1	4016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	74239564	74239564	+	Splice_Site	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr15:74239564G>A	ENST00000261921.7	+	4	1832	c.1506G>A	c.(1504-1506)caG>caA	p.Q502Q		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	502	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)	p.Q502Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CTCATACCCAGGTTGGGCTGG	0.617																																																1	Substitution - coding silent(1)	kidney(1)											70	68	68					15																	74239564		2198	4297	6495	SO:0001630	splice_region_variant	4016			L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1506+1G>A	15.37:g.74239564G>A			Q6NUL3|Q96BW7	Silent	SNP	ENST00000261921.7	37	CCDS10253.1																																																																																				0.617	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576	Silent	A	74239564	G	A	74239564	5	1	438	1	0	0	0	0	0	0	1	0	8901	1014	35	2	1520	2	LOXL1	15	74239564	Splice_Site	SNP	G	TCGA-BP-5189-01A-02D-1429-08	8687764	74239564	28291828	38	23988											
SCAMP2	10066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75142952	75142952	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr15:75142952A>C	ENST00000268099.9	-	6	644	c.535T>G	c.(535-537)Tcc>Gcc	p.S179A		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	179					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)		p.S179A(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ACTCCCTTGGAGCTGTTGCCC	0.537																																																1	Substitution - Missense(1)	kidney(1)											136	124	128					15																	75142952		2197	4295	6492	SO:0001583	missense	10066			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.535T>G	15.37:g.75142952A>C	ENSP00000268099:p.Ser179Ala		B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	A	5.557	0.287679	0.10513	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.18174	2.23	4.48	-8.95	0.00765	.	1.599140	0.02930	N	0.139072	T	0.10121	0.0248	L	0.35341	1.055	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.15484	0.005;0.013	T	0.22103	-1.0226	10	0.18710	T	0.47	.	6.1552	0.20334	0.2637:0.3272:0.0:0.4091	.	179;148	O15127;B3KU14	SCAM2_HUMAN;.	A	179;148	ENSP00000268099:S179A	ENSP00000268099:S179A	S	-	1	0	SCAMP2	72930005	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	-0.833000	0.04396	-1.148000	0.02847	0.402000	0.26972	TCC		0.537	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		C	75142952	A	C	75142952	3	2	438	1	0	0	0	0	1	0	0	0	13877	304	11	5	470	5	SCAMP2	15	75142952	Missense_Mutation	SNP	A	TCGA-BP-5189-01A-02D-1429-08	903388	75142952	27388440	39	23989											
FHOD1	29109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67265179	67265179	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr16:67265179A>C	ENST00000258201.4	-	17	2826	c.2579T>G	c.(2578-2580)cTa>cGa	p.L860R		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	860	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.L860R(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAGATGGTGTAGCAGTGACTG	0.587																																																1	Substitution - Missense(1)	kidney(1)											101	86	91					16																	67265179		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2579T>G	16.37:g.67265179A>C	ENSP00000258201:p.Leu860Arg		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.054754	0.55325	.	.	ENSG00000135723	ENST00000258201	T	0.81163	-1.46	5.39	5.39	0.77823	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91804	0.5454	10	0.87932	D	0	.	14.2313	0.65895	1.0:0.0:0.0:0.0	.	860	Q9Y613	FHOD1_HUMAN	R	860	ENSP00000258201:L860R	ENSP00000258201:L860R	L	-	2	0	FHOD1	65822680	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	9.339000	0.96797	2.043000	0.60533	0.459000	0.35465	CTA		0.587	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			C	67265179	A	C	67265179	3	2	438	1	0	0	0	0	1	0	0	0	5884	420	15	5	939	5	FHOD1	16	67265179	Missense_Mutation	SNP	A	TCGA-BP-5189-01A-02D-1429-08		67265179	23089574	40	23990											
FAM65A	79567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67579292	67579292	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr16:67579292C>G	ENST00000379312.3	+	18	3178	c.3057C>G	c.(3055-3057)ttC>ttG	p.F1019L	FAM65A_ENST00000042381.4_Missense_Mutation_p.F1015L|FAM65A_ENST00000540839.3_Missense_Mutation_p.F1034L|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.F1029L|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.F1035L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1019						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.F1015L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GTGTGAAGTTCCTGGAGGATG	0.577																																																1	Substitution - Missense(1)	kidney(1)											38	42	40					16																	67579292		2198	4300	6498	SO:0001583	missense	79567			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3057C>G	16.37:g.67579292C>G	ENSP00000368614:p.Phe1019Leu		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.045|0.045	-1.269070|-1.269070	0.01421|0.01421	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.72051|.	-0.62;-0.62;-0.62|.	4.92|4.92	0.596|0.596	0.17496|0.17496	.|.	0.180712|.	0.49916|.	N|.	0.000130|.	T|T	0.11495|0.11495	0.0280|0.0280	N|N	0.01729|0.01729	-0.75|-0.75	0.31766|0.31766	N|N	0.632749|0.632749	B;B;B|.	0.22346|.	0.068;0.068;0.068|.	B;B;B|.	0.16722|.	0.016;0.016;0.016|.	T|T	0.34004|0.34004	-0.9846|-0.9846	10|5	0.02654|.	T|.	1|.	-10.2239|-10.2239	6.5348|6.5348	0.22346|0.22346	0.0:0.5367:0.1524:0.3109|0.0:0.5367:0.1524:0.3109	.|.	1029;1035;1019|.	B4DIM2;E9PBS3;Q6ZS17|.	.;.;FA65A_HUMAN|.	L|A	1019;1015;1035;1029|1009	ENSP00000368614:F1019L;ENSP00000042381:F1015L;ENSP00000400099:F1035L|.	ENSP00000042381:F1015L|.	F|P	+|+	3|1	2|0	FAM65A|FAM65A	66136793|66136793	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.620000|0.620000	0.37586|0.37586	0.920000|0.920000	0.28705|0.28705	-0.012000|-0.012000	0.14223|0.14223	-1.202000|-1.202000	0.01658|0.01658	TTC|CCT		0.577	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		G	67579292	C	G	67579292	3	3	438	1	0	0	0	0	1	0	0	0	5601	854	30	4	3111	4	FAM65A	16	67579292	Missense_Mutation	SNP	C	TCGA-BP-5189-01A-02D-1429-08	314113	67579292	22775461	41	23991											
MLYCD	23417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	83940609	83940609	+	Silent	SNP	G	G	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr16:83940609G>T	ENST00000262430.4	+	2	565	c.546G>T	c.(544-546)ctG>ctT	p.L182L	RP11-505K9.4_ENST00000566309.1_5'Flank	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	182	Alpha-helical domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)	p.L182L(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATGGGGTGCTGAAAGGAATGC	0.478																																																1	Substitution - coding silent(1)	kidney(1)											172	167	169					16																	83940609		1881	4113	5994	SO:0001819	synonymous_variant	23417			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.546G>T	16.37:g.83940609G>T			Q9UNU5|Q9Y3F2	Silent	SNP	ENST00000262430.4	37	CCDS42206.1																																																																																				0.478	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		T	83940609	G	T	83940609	2	4	438	1	0	0	0	0	0	0	0	1	9640	1277	45	4		4	MLYCD	16	83940609	Silent	SNP	G	TCGA-BP-5189-01A-02D-1429-08	16361317	83940609	6414144	42	23992											
MYH4	4622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10351442	10351442	+	Splice_Site	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr17:10351442G>A	ENST00000255381.2	-	34	4768	c.4658C>T	c.(4657-4659)gCa>gTa	p.A1553V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1553					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1553V(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCAAGAGATGCCTTAATAAA	0.323																																																1	Substitution - Missense(1)	kidney(1)											84	76	79					17																	10351442		2202	4300	6502	SO:0001630	splice_region_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4657-1C>T	17.37:g.10351442G>A				Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185536	0.38609	.	.	ENSG00000141048	ENST00000255381	T	0.80304	-1.36	5.59	-2.3	0.06785	Myosin tail (1);	0.205852	0.23387	U	0.048732	T	0.73434	0.3586	L	0.47716	1.5	0.44966	D	0.997985	B	0.06786	0.001	B	0.15052	0.012	T	0.63812	-0.6552	10	0.87932	D	0	.	15.8543	0.78965	0.0594:0.6101:0.3305:0.0	.	1553	Q9Y623	MYH4_HUMAN	V	1553	ENSP00000255381:A1553V	ENSP00000255381:A1553V	A	-	2	0	MYH4	10292167	0.091000	0.21658	0.915000	0.36163	0.925000	0.55904	0.336000	0.19823	-0.488000	0.06726	-0.126000	0.14955	GCA		0.323	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Missense_Mutation	A	10351442	G	A	10351442	5	1	438	1	0	0	0	0	0	0	1	0	10039	1333	46	2	1189	2	MYH4	17	10351442	Splice_Site	SNP	G	TCGA-BP-5189-01A-02D-1429-08		10351442	70843768	43	23993											
SEC14L1	6397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	75209495	75209495	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr17:75209495G>A	ENST00000413679.2	+	16	2266	c.1963G>A	c.(1963-1965)Gtg>Atg	p.V655M	SEC14L1_ENST00000436233.4_Missense_Mutation_p.V655M|SEC14L1_ENST00000431431.2_Missense_Mutation_p.V621M|SEC14L1_ENST00000591437.1_Missense_Mutation_p.V621M|SEC14L1_ENST00000430767.4_Missense_Mutation_p.V655M|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V655M|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V655M|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V655M	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	655	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V655M(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGTGGACGACGTGCTTGCGTC	0.617																																																1	Substitution - Missense(1)	kidney(1)											65	48	54					17																	75209495		2203	4300	6503	SO:0001583	missense	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1963G>A	17.37:g.75209495G>A	ENSP00000394716:p.Val655Met		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711396	0.89112	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.72835	-0.57;-0.57;-0.57;-0.57;-0.57;-0.69	5.02	5.02	0.67125	GOLD (2);	0.000000	0.85682	D	0.000000	D	0.83050	0.5170	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.979;0.999;0.953	D	0.84644	0.0697	10	0.72032	D	0.01	-38.0157	17.5081	0.87752	0.0:0.0:1.0:0.0	.	655;49;655	Q92503-2;Q6ZP00;Q92503	.;.;S14L1_HUMAN	M	655;655;655;655;655;621	ENSP00000376268:V655M;ENSP00000406030:V655M;ENSP00000390392:V655M;ENSP00000408169:V655M;ENSP00000394716:V655M;ENSP00000389838:V621M	ENSP00000376268:V655M	V	+	1	0	SEC14L1	72721090	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.116000	0.94341	2.601000	0.87937	0.561000	0.74099	GTG		0.617	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		A	75209495	G	A	75209495	3	1	438	1	0	0	0	0	1	0	0	0	13987	1145	40	1	2017	1	SEC14L1	17	75209495	Missense_Mutation	SNP	G	TCGA-BP-5189-01A-02D-1429-08	64858053	75209495	5985715	44	23994											
HSH2D	84941	broad.mit.edu	37	19	16263872	16263872	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr19:16263872C>G	ENST00000253680.6	+	6	766	c.235C>G	c.(235-237)Cat>Gat	p.H79D	HSH2D_ENST00000397372.4_Intron|HSH2D_ENST00000593154.2_Missense_Mutation_p.H79D|HSH2D_ENST00000588246.1_Missense_Mutation_p.H79D			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	79	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.H79D(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CAGCTGCTGCCATTTCATGGT	0.632																																																1	Substitution - Missense(1)	kidney(1)											30	37	35					19																	16263872		2051	4201	6252	SO:0001583	missense	84941			AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.235C>G	19.37:g.16263872C>G	ENSP00000253680:p.His79Asp		B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37		.	.	.	.	.	.	.	.	.	.	C	18.02	3.530630	0.64860	.	.	ENSG00000196684	ENST00000253680	T	0.57595	0.39	4.78	4.78	0.61160	SH2 motif (4);	0.176818	0.35067	N	0.003470	D	0.83220	0.5207	H	0.99104	4.43	0.43103	D	0.994798	D;D	0.89917	1.0;0.995	D;D	0.91635	0.998;0.999	D	0.89519	0.3777	10	0.87932	D	0	.	13.1599	0.59538	0.0:1.0:0.0:0.0	.	22;79	Q96JZ2-2;Q96JZ2	.;HSH2D_HUMAN	D	79	ENSP00000253680:H79D	ENSP00000253680:H79D	H	+	1	0	HSH2D	16124872	0.985000	0.35326	1.000000	0.80357	0.729000	0.41735	2.826000	0.48104	2.488000	0.83962	0.591000	0.81541	CAT		0.632	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		G	16263872	C	G	16263872	3	3	438	1	0	0	0	0	1	0	0	0	7402	594	21	4	245	4	HSH2D	19	16263872	Missense_Mutation	SNP	C	TCGA-BP-5189-01A-02D-1429-08		16263872	42865111	45	23995											
ZNF93	81931	broad.mit.edu;hgsc.bcm.edu	37	19	20044531	20044531	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr19:20044531C>A	ENST00000343769.5	+	4	795	c.767C>A	c.(766-768)cCc>cAc	p.P256H	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P256H(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GGAAAGAAACCCTACAAGTGT	0.368																																																1	Substitution - Missense(1)	kidney(1)											55	53	54					19																	20044531		2203	4297	6500	SO:0001583	missense	81931			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.767C>A	19.37:g.20044531C>A	ENSP00000342002:p.Pro256His		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	c	12.57	1.978849	0.34942	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.17528	2.27	0.85	-0.442	0.12253	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29850	0.0746	M	0.71920	2.185	0.29345	N	0.865768	D	0.58620	0.983	P	0.60012	0.867	T	0.18272	-1.0342	9	0.72032	D	0.01	.	4.5089	0.11901	0.0:0.6826:0.0:0.3174	.	256	P35789	ZNF93_HUMAN	H	256	ENSP00000342002:P256H	ENSP00000342002:P256H	P	+	2	0	ZNF93	19905531	0.000000	0.05858	0.100000	0.21137	0.100000	0.18952	0.367000	0.20382	0.192000	0.20272	0.195000	0.17529	CCC		0.368	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		A	20044531	C	A	20044531	3	1	438	1	0	0	0	0	1	0	0	0	18207	623	22	4	781	4	ZNF93	19	20044531	Missense_Mutation	SNP	C	TCGA-BP-5189-01A-02D-1429-08	3780659	20044531	39084452	46	23996											
FTL	2512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49469167	49469167	+	Silent	SNP	C	C	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr19:49469167C>T	ENST00000331825.6	+	2	450	c.243C>T	c.(241-243)gaC>gaT	p.D81D	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	81	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)	p.D81D(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TCTTCCAGGACATCAAGGTAA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											41	38	39					19																	49469167		2203	4300	6503	SO:0001819	synonymous_variant	2512			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3"	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.243C>T	19.37:g.49469167C>T			B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Silent	SNP	ENST00000331825.6	37	CCDS33070.1																																																																																				0.602	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146		T	49469167	C	T	49469167	2	4	438	1	0	0	0	0	0	0	0	1	6086	477	17	2		2	FTL	19	49469167	Silent	SNP	C	TCGA-BP-5189-01A-02D-1429-08	29424636	49469167	9659816	47	23997											
PTPRH	5794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55710122	55710122	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr19:55710122C>T	ENST00000376350.3	-	8	1601	c.1579G>A	c.(1579-1581)Ggt>Agt	p.G527S	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G349S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	527	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G527S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTCAGTACCTGAGGTGCTT	0.597																																																1	Substitution - Missense(1)	kidney(1)											182	150	161					19																	55710122		2203	4300	6503	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1579G>A	19.37:g.55710122C>T	ENSP00000365528:p.Gly527Ser		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	4.753	0.139963	0.09083	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.57907	0.37;0.37	2.49	2.49	0.30216	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24236	0.0587	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.22604	0.072;0.058;0.05	B;B;B	0.25405	0.06;0.036;0.05	T	0.19712	-1.0297	9	0.13108	T	0.6	.	8.6181	0.33845	0.0:1.0:0.0:0.0	.	349;349;527	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	S	527;349	ENSP00000365528:G527S;ENSP00000263434:G349S	ENSP00000263434:G349S	G	-	1	0	PTPRH	60401934	0.001000	0.12720	0.005000	0.12908	0.006000	0.05464	0.593000	0.23999	1.714000	0.51371	0.561000	0.74099	GGT		0.597	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			T	55710122	C	T	55710122	3	4	438	1	0	0	0	0	1	0	0	0	12809	681	24	2	1820	2	PTPRH	19	55710122	Missense_Mutation	SNP	C	TCGA-BP-5189-01A-02D-1429-08	6240955	55710122	3418861	48	23998											
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53225887	53225887	+	Frame_Shift_Del	DEL	G	G	-	rs376421703		TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chrX:53225887delG	ENST00000375401.3	-	19	3494	c.2962delC	c.(2962-2964)cacfs	p.H988fs	KDM5C_ENST00000452825.3_Frame_Shift_Del_p.H921fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.H987fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.H988fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.H947fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	988					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGGCAGAGGTGGGCTTTCTCC	0.602			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													74	63	67					X																	53225887		2203	4300	6503	SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2962delC	X.37:g.53225887delG	ENSP00000364550:p.His988fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.602	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		-	53225887	G	-	53225887	7	5	438	1	0	1	0	1	0	0	0	0	8137	1348	47	0	1850	0	KDM5C	23	53225887	Frame_Shift_Del	DEL	G	TCGA-BP-5189-01A-02D-1429-08		53225887	102044673	49	23999											
VPS13D	55187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12566928	12566928	+	Silent	SNP	T	T	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr1:12566928T>A	ENST00000358136.3	+	69	12946	c.12816T>A	c.(12814-12816)atT>atA	p.I4272I	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.I4247I|SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000543766.1_Silent_p.I270I|VPS13D_ENST00000543710.1_Silent_p.I76I|VPS13D_ENST00000471923.1_5'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.I4272I(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGAGAACATTGACAGCTACT	0.537																																																1	Substitution - coding silent(1)	kidney(1)											81	79	80					1																	12566928		2203	4300	6503	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12816T>A	1.37:g.12566928T>A				Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568906	0.28003	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.78	0.084	0.14436	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.9104	0.09201	0.3515:0.3433:0.0:0.3052	.	.	.	.	X	3094	.	.	L	+	2	0	VPS13D	12489515	0.002000	0.14202	0.907000	0.35723	0.969000	0.65631	-1.494000	0.02296	-0.249000	0.09569	-0.408000	0.06270	TTG		0.537	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		A	12566928	T	A	12566928	2	1	439	1	0	0	0	0	0	0	0	1	17197	1800	63	5		5	VPS13D	1	12566928	Silent	SNP	T	TCGA-BP-5190-01A-01D-1429-08		12566928	236683693	1	24000											
MRPS21	54460	broad.mit.edu;hgsc.bcm.edu	37	1	150266811	150266811	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr1:150266811G>A	ENST00000369084.5	+	1	472	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	MRPS21_ENST00000309092.7_Missense_Mutation_p.A9T	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	9					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A9T(1)		kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAGTTCATCGCCAGGACTGT	0.473																																																1	Substitution - Missense(1)	kidney(1)											108	94	99					1																	150266811		2203	4300	6503	SO:0001583	missense	54460			AB051353	CCDS950.1	1q21	2012-09-13			ENSG00000187145			"Mitochondrial ribosomal proteins / small subunits"	14046	protein-coding gene	gene with protein product		611984					Standard	NM_031901		Approved		uc001euk.3	P82921	OTTHUMG00000012544	ENST00000369084.5:c.25G>A	1.37:g.150266811G>A	ENSP00000358080:p.Ala9Thr		Q5TB11|Q9BST6	Missense_Mutation	SNP	ENST00000369084.5	37	CCDS950.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122348	0.94429	.	.	ENSG00000187145	ENST00000309092;ENST00000369084	T;T	0.35048	1.33;1.33	5.41	5.41	0.78517	.	.	.	.	.	T	0.47229	0.1434	.	.	.	0.42650	D	0.99344	D	0.76494	0.999	P	0.58266	0.836	T	0.42172	-0.9467	8	0.52906	T	0.07	.	16.2255	0.82286	0.0:0.0:1.0:0.0	.	9	P82921	RT21_HUMAN	T	9	ENSP00000312395:A9T;ENSP00000358080:A9T	ENSP00000312395:A9T	A	+	1	0	MRPS21	148533435	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.988000	0.56951	2.826000	0.97356	0.655000	0.94253	GCC		0.473	MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035813.1	NM_018997		A	150266811	G	A	150266811	3	1	439	1	0	0	0	0	1	0	0	0	9834	1087	38	1	27	1	MRPS21	1	150266811	Missense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08	137699883	150266811	98983810	2	24001											
IPO9	55705	broad.mit.edu;ucsc.edu	37	1	201845133	201845133	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr1:201845133G>T	ENST00000361565.4	+	24	3146	c.3077G>T	c.(3076-3078)gGc>gTc	p.G1026V		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	1026					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.G1026V(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATGTTTTCAGGCCACCTTAAT	0.483											OREG0014090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											251	247	249					1																	201845133		2203	4300	6503	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.3077G>T	1.37:g.201845133G>T	ENSP00000354742:p.Gly1026Val	2124	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.050019|3.050019	0.55218|0.55218	.|.	.|.	ENSG00000198700|ENSG00000198700	ENST00000456707|ENST00000361565	.|T	.|0.67171	.|-0.25	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Armadillo-type fold (1);	.|0.250711	.|0.48767	.|D	.|0.000161	T|T	0.50377|0.50377	0.1612|0.1612	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999998|0.999998	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.42531|0.42531	-0.9446|-0.9446	6|10	0.72032|0.27785	D|T	0.01|0.31	.|.	10.9707|10.9707	0.47438|0.47438	0.0851:0.0:0.9149:0.0|0.0851:0.0:0.9149:0.0	.|.	.|1026	.|Q96P70	.|IPO9_HUMAN	S|V	81|1026	.|ENSP00000354742:G1026V	ENSP00000387761:A81S|ENSP00000354742:G1026V	A|G	+|+	1|2	0|0	IPO9|IPO9	200111756|200111756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.854000|4.854000	0.62918|0.62918	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GCC|GGC		0.483	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		T	201845133	G	T	201845133	3	4	439	1	0	0	0	0	1	0	0	0	7801	1203	42	4	3171	4	IPO9	1	201845133	Missense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08	51578322	201845133	47405488	3	24002											
EMILIN1	11117	hgsc.bcm.edu;ucsc.edu	37	2	27308027	27308032	+	Splice_Site	DEL	GGAGTG	GGAGTG	-	rs113364468	byFrequency	TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	GGAGTG	GGAGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr2:27308027_27308032delGGAGTG	ENST00000380320.4	+	7	3074_3079	c.2575_2580delGGAGTG	c.(2575-2580)ggagtgdel	p.GV859del	KHK_ENST00000260598.5_5'Flank|KHK_ENST00000260599.6_5'Flank	NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	859	Collagen-like.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCCACTCAGGAGTGGAGGGGGCAC	0.641																																																0																																										SO:0001630	splice_region_variant	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2576-1GGAGTG>-	2.37:g.27308027_27308032delGGAGTG			A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Frame_Shift_Del	DEL	ENST00000380320.4	37	CCDS1733.1																																																																																				0.641	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046	In_Frame_Del	-	27308032	GGAGTG	-	27308027	8	5	439	1	0	1	0	1	0	0	1	0	5095	1014	35	0	2601	0	EMILIN1	2	27308027	Splice_Site	DEL	GGAGTG	TCGA-BP-5190-01A-01D-1429-08		27308027	215891346	4	24003											
RPL31	6160	broad.mit.edu;hgsc.bcm.edu	37	2	101622534	101622534	+	Splice_Site	SNP	G	G	C			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr2:101622534G>C	ENST00000264258.3	+	4	947		c.e4+1		RPL31_ENST00000409320.3_Missense_Mutation_p.S116T|RPL31_ENST00000409038.1_Splice_Site|RPL31_ENST00000409733.1_Splice_Site|RPL31_ENST00000409650.1_Splice_Site|RPL31_ENST00000409711.1_3'UTR|RPL31_ENST00000409028.4_Splice_Site	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.?(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						ACTTTCAAAAGTAAGTTCTCC	0.378																																																1	Unknown(1)	kidney(1)											47	45	46					2																	101622534		2203	4300	6503	SO:0001630	splice_region_variant	6160			X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"L ribosomal proteins"	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.346+1G>C	2.37:g.101622534G>C			B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	ENST00000264258.3	37	CCDS2049.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.384501|4.384501	0.82792|0.82792	.|.	.|.	ENSG00000071082|ENSG00000071082	ENST00000264258;ENST00000409028;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000441435|ENST00000409320	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51618	.|0.1685	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.43245	.|-0.9403	.|6	.|.	.|.	.|.	.|.	18.5932|18.5932	0.91222|0.91222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|116	.|Q6IRZ0	.|.	.|T	-1|116	.|.	.|.	.|S	+|+	.|2	.|0	RPL31|RPL31	100988966|100988966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.448000|9.448000	0.97600|0.97600	2.610000|2.610000	0.88304|0.88304	0.563000|0.563000	0.77884|0.77884	.|AGT		0.378	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253182.3	NM_001098577	Intron	C	101622534	G	C	101622534	5	2	439	1	0	0	0	0	0	0	1	0	13587	1043	36	4	357	4	RPL31	2	101622534	Splice_Site	SNP	G	TCGA-BP-5190-01A-01D-1429-08	74314507	101622534	141576839	5	24004											
NCKAP5	344148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	133541011	133541011	+	Missense_Mutation	SNP	C	C	A	rs371372513		TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr2:133541011C>A	ENST00000409261.1	-	14	3746	c.3373G>T	c.(3373-3375)Gcc>Tcc	p.A1125S	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1125	Ser-rich.							p.A1125S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGCTTTTGGCGGGTGATGAG	0.502																																																1	Substitution - Missense(1)	kidney(1)						C	SER/ALA,	0,4188		0,0,2094	157	164	162		3373,	1.5	0	2		162	1,8453		0,1,4226	no	missense,intron	NCKAP5	NM_207363.2,NM_207481.3	99,	0,1,6320	AA,AC,CC		0.0118,0.0,0.0079	benign,	1125/1910,	133541011	1,12641	2094	4227	6321	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3373G>T	2.37:g.133541011C>A	ENSP00000387128:p.Ala1125Ser		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	0.208	-1.039366	0.02013	0.0	1.18E-4	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.08720	3.06;3.06	5.24	1.46	0.22682	.	0.992366	0.08158	N	0.988883	T	0.03095	0.0091	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47459	-0.9116	10	0.18710	T	0.47	.	1.7347	0.02939	0.5677:0.1727:0.095:0.1646	.	1125	O14513	NCKP5_HUMAN	S	1125	ENSP00000387128:A1125S;ENSP00000380603:A1125S	ENSP00000380603:A1125S	A	-	1	0	NCKAP5	133257481	0.000000	0.05858	0.003000	0.11579	0.028000	0.11728	0.367000	0.20382	0.091000	0.17302	-0.291000	0.09656	GCC		0.502	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		A	133541011	C	A	133541011	3	1	439	1	0	0	0	0	1	0	0	0	10225	768	27	4	2384	4	NCKAP5	2	133541011	Missense_Mutation	SNP	C	TCGA-BP-5190-01A-01D-1429-08	31918477	133541011	109658362	6	24005											
SCRN3	79634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	175289230	175289230	+	Silent	SNP	G	G	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr2:175289230G>A	ENST00000272732.6	+	7	1027	c.945G>A	c.(943-945)gtG>gtA	p.V315V	SCRN3_ENST00000409673.3_Silent_p.V308V|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	315							dipeptidase activity (GO:0016805)	p.V315V(1)|p.V308V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TCATATTTGTGCCACATATTT	0.299																																																2	Substitution - coding silent(2)	kidney(2)											62	57	59					2																	175289230		2203	4299	6502	SO:0001819	synonymous_variant	79634			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.945G>A	2.37:g.175289230G>A			B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Silent	SNP	ENST00000272732.6	37	CCDS2258.1																																																																																				0.299	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		A	175289230	G	A	175289230	2	1	439	1	0	0	0	0	0	0	0	1	13946	1306	46	2		2	SCRN3	2	175289230	Silent	SNP	G	TCGA-BP-5190-01A-01D-1429-08	41748219	175289230	67910143	7	24006											
CPS1	1373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	211476961	211476961	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr2:211476961G>A	ENST00000233072.5	+	20	2708	c.2512G>A	c.(2512-2514)Gat>Aat	p.D838N	CPS1_ENST00000430249.2_Missense_Mutation_p.D844N|CPS1_ENST00000451903.2_Missense_Mutation_p.D387N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	838					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.D838N(1)|p.D844N(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATCTAATTTAGATCTTAGAAA	0.453																																																2	Substitution - Missense(2)	kidney(2)											115	115	115					2																	211476961		2202	4300	6502	SO:0001583	missense	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2512G>A	2.37:g.211476961G>A	ENSP00000233072:p.Asp838Asn		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765813	0.31228	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97455	-4.39;-4.39;-4.39	5.65	4.77	0.60923	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (2);	0.135878	0.64402	D	0.000003	D	0.91310	0.7260	N	0.08118	0	0.40071	D	0.976012	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	D	0.87662	0.2535	10	0.52906	T	0.07	-5.592	10.9013	0.47054	0.1441:0.0:0.8559:0.0	.	848;838	Q59HF8;P31327	.;CPSM_HUMAN	N	844;846;838;387	ENSP00000402608:D844N;ENSP00000233072:D838N;ENSP00000406136:D387N	ENSP00000233072:D838N	D	+	1	0	CPS1	211185206	1.000000	0.71417	0.037000	0.18230	0.274000	0.26718	4.572000	0.60886	1.380000	0.46344	0.557000	0.71058	GAT		0.453	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			A	211476961	G	A	211476961	3	1	439	1	0	0	0	0	1	0	0	0	3825	942	33	2	2612	2	CPS1	2	211476961	Missense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08	36187731	211476961	31722412	8	24007											
VHL	7428	broad.mit.edu	37	3	10183715	10183716	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	GT	GT	GT	-	GT	GT	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq;PacBio			Illumina GAIIx	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr3:10183715_10183716delGT	ENST00000256474.2	+	1	1024_1025	c.184_185delGT	c.(184-186)gtgfs	p.V62fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.V62fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	62					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V62fs*68(2)|p.E52_S65del(2)|p.?(1)|p.G57fs*69(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.P61fs*61(1)|p.P61fs*70(1)|p.G57fs*4(1)|p.R60fs*70(1)|p.V62fs*5(1)|p.V62fs*3(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCCGCGGCCCGTGCTGCGCTCG	0.733		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	15	Deletion - Frameshift(9)|Complex - frameshift(2)|Deletion - In frame(2)|Complex - deletion inframe(1)|Unknown(1)	kidney(15)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.184_185delGT	3.37:g.10183715_10183716delGT	ENSP00000256474:p.Val62fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.733	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183716	GT	-	10183715	7	5	439	1	0	1	0	1	0	0	0	0	17167	1145	40	0	186	0	VHL	3	10183715	Frame_Shift_Del	DEL	GT	TCGA-BP-5190-01A-01D-1429-08		10183715	187838715	9	24008											
CNTN3	5067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	74474063	74474063	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr3:74474063C>A	ENST00000263665.6	-	4	414	c.387G>T	c.(385-387)agG>agT	p.R129S		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	129	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R129S(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACACTGTACTCCTCATTTTGG	0.398																																																1	Substitution - Missense(1)	kidney(1)											70	65	67					3																	74474063		2203	4300	6503	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.387G>T	3.37:g.74474063C>A	ENSP00000263665:p.Arg129Ser		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484767	0.63962	.	.	ENSG00000113805	ENST00000263665	T	0.76060	-0.99	5.18	-1.32	0.09201	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	M	0.93808	3.46	0.45272	D	0.998276	D	0.76494	0.999	D	0.74023	0.982	D	0.84989	0.0893	10	0.52906	T	0.07	.	10.5542	0.45107	0.0:0.5308:0.0:0.4692	.	129	Q9P232	CNTN3_HUMAN	S	129	ENSP00000263665:R129S	ENSP00000263665:R129S	R	-	3	2	CNTN3	74556753	0.934000	0.31675	0.847000	0.33407	0.974000	0.67602	-0.077000	0.11394	-0.406000	0.07588	-0.390000	0.06520	AGG		0.398	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		A	74474063	C	A	74474063	3	1	439	1	0	0	0	0	1	0	0	0	3644	854	30	4	2775	4	CNTN3	3	74474063	Missense_Mutation	SNP	C	TCGA-BP-5190-01A-01D-1429-08	64290348	74474063	123548367	10	24009											
LAMP3	27074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	182871600	182871600	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr3:182871600G>A	ENST00000265598.3	-	2	884	c.629C>T	c.(628-630)aCg>aTg	p.T210M	LAMP3_ENST00000466939.1_Missense_Mutation_p.T186M	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	210	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.T210M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CCCAGGAACCGTGGAGGCAGG	0.557																																																1	Substitution - Missense(1)	kidney(1)											101	100	100					3																	182871600		2203	4300	6503	SO:0001583	missense	27074			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.629C>T	3.37:g.182871600G>A	ENSP00000265598:p.Thr210Met		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	g	15.11	2.736649	0.49045	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.36520	1.25;1.25	5.81	-3.86	0.04230	.	1.431570	0.04239	N	0.336618	T	0.28466	0.0704	L	0.45581	1.43	0.09310	N	1	P	0.39520	0.676	B	0.35413	0.202	T	0.26916	-1.0089	10	0.38643	T	0.18	4.6752	7.935	0.29925	0.5882:0.1196:0.2922:0.0	.	210	Q9UQV4	LAMP3_HUMAN	M	210;186	ENSP00000265598:T210M;ENSP00000418912:T186M	ENSP00000265598:T210M	T	-	2	0	LAMP3	184354294	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.123000	0.10611	-1.317000	0.02292	-0.136000	0.14681	ACG		0.557	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			A	182871600	G	A	182871600	3	1	439	1	0	0	0	0	1	0	0	0	8621	1145	40	1	641	1	LAMP3	3	182871600	Missense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08	108397537	182871600	15150830	11	24010											
BCL6	604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	187446848	187446848	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr3:187446848T>C	ENST00000406870.2	-	5	1711	c.1345A>G	c.(1345-1347)Atc>Gtc	p.I449V	RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.I449V|BCL6_ENST00000232014.4_Missense_Mutation_p.I449V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	449					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I449V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGTTAACGATGTTATTGAGC	0.557			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	1	Substitution - Missense(1)	kidney(1)											58	60	59					3																	187446848		2203	4300	6503	SO:0001583	missense	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1345A>G	3.37:g.187446848T>C	ENSP00000384371:p.Ile449Val		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.692518	0.30052	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08458	3.09;3.09;3.14	5.61	3.13	0.36017	.	0.089927	0.85682	D	0.000000	T	0.06462	0.0166	L	0.29908	0.895	0.40154	D	0.976985	B;B	0.25312	0.123;0.068	B;B	0.21360	0.034;0.024	T	0.34403	-0.9830	10	0.18710	T	0.47	.	12.2613	0.54652	0.0:0.0:0.3922:0.6078	.	449;449	B8PSA7;P41182	.;BCL6_HUMAN	V	449	ENSP00000384371:I449V;ENSP00000232014:I449V;ENSP00000413122:I449V	ENSP00000232014:I449V	I	-	1	0	BCL6	188929542	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	2.863000	0.48396	0.451000	0.26802	0.459000	0.35465	ATC		0.557	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		C	187446848	T	C	187446848	3	2	439	1	0	0	0	0	1	0	0	0	1376	1464	51	3	799	3	BCL6	3	187446848	Missense_Mutation	SNP	T	TCGA-BP-5190-01A-01D-1429-08	4575248	187446848	10575582	12	24011											
SCD5	79966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83719638	83719638	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr4:83719638T>G	ENST00000319540.4	-	1	372	c.53A>C	c.(52-54)gAa>gCa	p.E18A	SCD5_ENST00000273908.4_Missense_Mutation_p.E18A|SCD5_ENST00000282709.4_Missense_Mutation_p.E18A	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	18					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.E18A(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				ACGGATTTCTTCCTTGGCGTC	0.721																																																2	Substitution - Missense(2)	kidney(2)											19	21	20					4																	83719638		2201	4294	6495	SO:0001583	missense	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.53A>C	4.37:g.83719638T>G	ENSP00000316329:p.Glu18Ala		B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959683	0.34565	.	.	ENSG00000145284	ENST00000319540;ENST00000273908;ENST00000282709	T	0.46819	0.86	4.2	2.92	0.33932	.	0.277510	0.20085	U	0.099567	T	0.22244	0.0536	N	0.08118	0	0.09310	N	1	B;P;B	0.41673	0.288;0.759;0.131	B;B;B	0.34590	0.063;0.186;0.027	T	0.07616	-1.0763	10	0.37606	T	0.19	-10.4899	8.6817	0.34212	0.0:0.0:0.1915:0.8085	.	18;18;18	Q9BSN4;Q86SK9-2;Q86SK9	.;.;SCD5_HUMAN	A	18	ENSP00000316329:E18A	ENSP00000273908:E18A	E	-	2	0	SCD5	83938662	0.096000	0.21769	0.286000	0.24833	0.664000	0.39144	1.019000	0.30014	1.747000	0.51819	0.386000	0.25728	GAA		0.721	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		G	83719638	T	G	83719638	3	3	439	1	0	0	0	0	1	0	0	0	13893	1783	62	5	1165	5	SCD5	4	83719638	Missense_Mutation	SNP	T	TCGA-BP-5190-01A-01D-1429-08		83719638	107434638	13	24012											
PLA2G12A	81579	broad.mit.edu;hgsc.bcm.edu	37	4	110650931	110650931	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr4:110650931A>G	ENST00000243501.5	-	1	302	c.35T>C	c.(34-36)cTg>cCg	p.L12P	PLA2G12A_ENST00000502283.1_Missense_Mutation_p.L12P	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	12					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)	p.L12P(1)		kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		GAGGAGGAGCAGGAGGGTGAG	0.701																																																1	Substitution - Missense(1)	kidney(1)											25	21	23					4																	110650931		2185	4269	6454	SO:0001583	missense	81579				CCDS3686.1	4q25	2010-11-24	2004-01-13	2004-01-14	ENSG00000123739	ENSG00000123739	3.1.1.4		18554	protein-coding gene	gene with protein product		611652	"phospholipase A2, group XII"	PLA2G12		11031251	Standard	NM_030821		Approved		uc003hzp.3	Q9BZM1	OTTHUMG00000131915	ENST00000243501.5:c.35T>C	4.37:g.110650931A>G	ENSP00000243501:p.Leu12Pro		Q9BZ89	Missense_Mutation	SNP	ENST00000243501.5	37	CCDS3686.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338442	0.60963	.	.	ENSG00000123739	ENST00000243501;ENST00000502283	.	.	.	3.72	2.54	0.30619	.	0.685334	0.13048	N	0.417950	T	0.46151	0.1378	L	0.44542	1.39	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.01	T	0.43130	-0.9410	9	0.66056	D	0.02	-24.887	5.2494	0.15514	0.7239:0.1786:0.0974:0.0	.	12;12	Q542Y6;Q9BZM1	.;PG12A_HUMAN	P	12	.	ENSP00000243501:L12P	L	-	2	0	PLA2G12A	110870380	0.973000	0.33851	0.650000	0.29550	0.324000	0.28378	2.505000	0.45424	0.607000	0.29982	0.260000	0.18958	CTG		0.701	PLA2G12A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254868.3			G	110650931	A	G	110650931	3	3	439	1	0	0	0	0	1	0	0	0	11992	188	7	3	550	3	PLA2G12A	4	110650931	Missense_Mutation	SNP	A	TCGA-BP-5190-01A-01D-1429-08	26931293	110650931	80503345	14	24013											
TRPC3	7222	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	122853762	122853762	+	Silent	SNP	G	G	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr4:122853762G>A	ENST00000379645.3	-	2	724	c.651C>T	c.(649-651)gaC>gaT	p.D217D	TRPC3_ENST00000264811.5_Silent_p.D144D|TRPC3_ENST00000513531.1_Silent_p.D144D	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	132					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.D144D(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGAAGTCGTCGTCCTGCAGCT	0.627																																																1	Substitution - coding silent(1)	kidney(1)											81	73	75					4																	122853762		2203	4300	6503	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.651C>T	4.37:g.122853762G>A			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	ENST00000379645.3	37	CCDS47130.1																																																																																				0.627	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		A	122853762	G	A	122853762	2	1	439	1	0	0	0	0	0	0	0	1	16584	1136	40	1		1	TRPC3	4	122853762	Silent	SNP	G	TCGA-BP-5190-01A-01D-1429-08	12202831	122853762	68300514	15	24014											
PCDHA2	56146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140174870	140174870	+	Silent	SNP	G	G	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr5:140174870G>A	ENST00000526136.1	+	1	321	c.321G>A	c.(319-321)gaG>gaA	p.E107E	PCDHA2_ENST00000378132.1_Silent_p.E107E|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.E107E|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E107E(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACGTGGAGGTGATCGTGG	0.517																																																2	Substitution - coding silent(2)	kidney(2)											108	123	118					5																	140174870		2203	4300	6503	SO:0001819	synonymous_variant	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.321G>A	5.37:g.140174870G>A			O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	CCDS54914.1																																																																																				0.517	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		A	140174870	G	A	140174870	2	1	439	1	0	0	0	0	0	0	0	1	11526	991	35	2		2	PCDHA2	5	140174870	Silent	SNP	G	TCGA-BP-5190-01A-01D-1429-08		140174870	40740390	16	24015											
LSM11	134353	broad.mit.edu	37	5	157170976	157170976	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr5:157170976G>A	ENST00000286307.5	+	1	274	c.218G>A	c.(217-219)gGg>gAg	p.G73E		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	73					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)	p.G73E(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ggcgggcgcgggcgcgggcgg	0.786																																																1	Substitution - Missense(1)	kidney(1)											2	3	3					5																	157170976		1499	3263	4762	SO:0001583	missense	134353			AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.218G>A	5.37:g.157170976G>A	ENSP00000286307:p.Gly73Glu		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	G	1.172	-0.640718	0.03557	.	.	ENSG00000155858	ENST00000286307	.	.	.	2.37	1.39	0.22231	.	.	.	.	.	T	0.20129	0.0484	L	0.38175	1.15	0.39608	D	0.969842	P	0.47841	0.901	B	0.34590	0.186	T	0.21075	-1.0256	8	0.12430	T	0.62	.	2.6712	0.05067	0.2472:0.3021:0.4507:0.0	.	73	P83369	LSM11_HUMAN	E	73	.	ENSP00000286307:G73E	G	+	2	0	LSM11	157103554	0.999000	0.42202	0.278000	0.24718	0.049000	0.14656	2.034000	0.41145	0.278000	0.22164	0.306000	0.20318	GGG		0.786	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		A	157170976	G	A	157170976	3	1	439	1	0	0	0	0	1	0	0	0	9054	1232	43	2	220	2	LSM11	5	157170976	Missense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08	16996106	157170976	23744284	17	24016											
CCHCR1	54535	broad.mit.edu;hgsc.bcm.edu	37	6	31122472	31122472	+	Missense_Mutation	SNP	C	C	T	rs576214578	byFrequency	TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr6:31122472C>T	ENST00000376266.5	-	4	457	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.R201Q|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R165Q|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R112Q	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	112					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R112Q(1)|p.R201Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CGAGGTCTCCCGCAGGAGCCG	0.692													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17147	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)											41	50	47					6																	31122472		1507	2709	4216	SO:0001583	missense	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.335G>A	6.37:g.31122472C>T	ENSP00000365442:p.Arg112Gln		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503735	0.44558	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162;ENST00000513222;ENST00000503420;ENST00000515274;ENST00000507751;ENST00000455279;ENST00000412245;ENST00000503934;ENST00000426967;ENST00000502557;ENST00000507829	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49;3.49;3.49;3.49;3.49;3.49;3.49;3.49;3.49;3.49;3.49	4.8	3.03	0.35002	.	0.325746	0.22679	N	0.056980	T	0.04634	0.0126	M	0.70595	2.14	0.25487	N	0.987688	D;D;D;D;D	0.63046	0.983;0.978;0.978;0.992;0.979	P;B;B;P;B	0.50082	0.524;0.442;0.442;0.63;0.389	T	0.31447	-0.9943	10	0.30854	T	0.27	-22.6889	6.9406	0.24490	0.0:0.7948:0.0:0.2052	.	112;112;112;165;201	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	Q	201;112;112;112;165;76;76;112;86;76;112;112;112;138;112;210;112;112	ENSP00000379566:R201Q;ENSP00000365442:R112Q;ENSP00000379561:R112Q;ENSP00000401039:R165Q;ENSP00000414323:R76Q;ENSP00000421393:R76Q;ENSP00000390027:R112Q;ENSP00000425682:R86Q;ENSP00000421992:R76Q;ENSP00000420941:R112Q;ENSP00000398715:R112Q;ENSP00000425595:R112Q;ENSP00000402432:R210Q;ENSP00000425377:R112Q;ENSP00000420911:R112Q	ENSP00000365442:R112Q	R	-	2	0	CCHCR1	31230451	0.977000	0.34250	0.949000	0.38748	0.511000	0.34104	0.523000	0.22925	0.646000	0.30693	-0.158000	0.13435	CGG		0.692	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		T	31122472	C	T	31122472	3	4	439	1	0	0	0	0	1	0	0	0	2879	652	23	1	2073	1	CCHCR1	6	31122472	Missense_Mutation	SNP	C	TCGA-BP-5190-01A-01D-1429-08		31122472	139992595	18	24017											
DST	667	broad.mit.edu	37	6	56373344	56373344	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr6:56373344G>C	ENST00000361203.3	-	70	18269	c.18262C>G	c.(18262-18264)Cag>Gag	p.Q6088E	DST_ENST00000370754.5_Missense_Mutation_p.Q6377E|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q4002E|DST_ENST00000421834.2_Missense_Mutation_p.Q4111E|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.Q6199E|DST_ENST00000244364.6_Missense_Mutation_p.Q3785E|DST_ENST00000446842.2_Missense_Mutation_p.Q5873E			Q03001	DYST_HUMAN	dystonin	6078					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q3785E(1)|p.Q6199E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTTCTTGCTGTTGTTTTACT	0.373																																																2	Substitution - Missense(2)	kidney(2)											153	148	150					6																	56373344		1860	4096	5956	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18262C>G	6.37:g.56373344G>C	ENSP00000354508:p.Gln6088Glu		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	19.87	3.906668	0.72868	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.91	5.91	0.95273	.	0.121784	0.37261	N	0.002179	T	0.66346	0.2780	M	0.75777	2.31	0.30190	N	0.79957	D;D;D;P;D	0.76494	0.991;0.998;0.996;0.773;0.999	D;D;D;B;D	0.83275	0.991;0.996;0.989;0.389;0.992	T	0.65150	-0.6238	9	0.52906	T	0.07	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	4111;6199;6377;6197;3785	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	E	3785;6377;6199;4111;5873;4002;6088;201	ENSP00000244364:Q3785E;ENSP00000359790:Q6377E;ENSP00000359805:Q6199E;ENSP00000400883:Q4111E;ENSP00000393645:Q5873E;ENSP00000359824:Q4002E;ENSP00000354508:Q6088E	ENSP00000244364:Q3785E	Q	-	1	0	DST	56481303	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.869000	0.99810	2.804000	0.96469	0.650000	0.86243	CAG		0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		C	56373344	G	C	56373344	3	2	439	1	0	0	0	0	1	0	0	0	4785	1386	48	4	4278	4	DST	6	56373344	Missense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08	25250872	56373344	114741723	19	24018											
MLLT4	4301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	168297599	168297599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr6:168297599C>T	ENST00000447894.2	+	10	1264	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q422*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.Q422*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q406*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q422*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q421*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q422*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	422					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.Q406*(2)|p.Q422*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACCGCCTTCAGTTAAGTGT	0.428			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	3	Substitution - Nonsense(3)	kidney(2)|breast(1)											106	98	101					6																	168297599		2203	4300	6503	SO:0001587	stop_gained	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1264C>T	6.37:g.168297599C>T	ENSP00000404595:p.Gln422*		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	ENST00000447894.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.157943|8.157943	0.98683|0.98683	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69006	.|0.3063	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67806	.|-0.5575	.|3	0.24483|.	T|.	0.36|.	-4.1676|-4.1676	18.8669|18.8669	0.92296|0.92296	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	422;422;422;422;406;422;421;422|120	.|.	ENSP00000345834:Q422X|.	Q|S	+|+	1|2	0|0	MLLT4|MLLT4	168040448|168040448	1.000000|1.000000	0.71417|0.71417	0.358000|0.358000	0.25811|0.25811	0.965000|0.965000	0.64279|0.64279	7.508000|7.508000	0.81686|0.81686	2.447000|2.447000	0.82792|0.82792	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.428	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		T	168297599	C	T	168297599	4	4	439	1	0	0	0	0	0	1	0	0	9631	827	29	2	1302	2	MLLT4	6	168297599	Nonsense_Mutation	SNP	C	TCGA-BP-5190-01A-01D-1429-08	111924255	168297599	2817468	20	24019											
VPS41	27072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	38803128	38803128	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr7:38803128G>C	ENST00000310301.4	-	17	1403	c.1349C>G	c.(1348-1350)cCa>cGa	p.P450R	VPS41_ENST00000395969.2_Missense_Mutation_p.P425R	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	450					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.P450R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ATCACCTCTTGGCAAATAAGG	0.333																																																1	Substitution - Missense(1)	kidney(1)											94	86	89					7																	38803128		2203	4300	6503	SO:0001583	missense	27072			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1349C>G	7.37:g.38803128G>C	ENSP00000309457:p.Pro450Arg		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726275	0.89298	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.60299	0.21;0.2	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81264	0.4786	M	0.90198	3.095	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.66716	0.946;0.946;0.946	D	0.83471	0.0059	10	0.62326	D	0.03	-10.2242	20.3398	0.98759	0.0:0.0:1.0:0.0	.	450;425;450	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	R	450;425	ENSP00000309457:P450R;ENSP00000379297:P425R	ENSP00000309457:P450R	P	-	2	0	VPS41	38769653	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.811000	0.96726	0.557000	0.71058	CCA		0.333	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			C	38803128	G	C	38803128	3	2	439	1	0	0	0	0	1	0	0	0	17215	1348	47	4	1267	4	VPS41	7	38803128	Missense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08		38803128	120335535	21	24020											
AGPAT5	55326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	6614716	6614716	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr8:6614716C>T	ENST00000285518.6	+	8	1214	c.902C>T	c.(901-903)cCa>cTa	p.P301L		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	301					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.P301L(1)	AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		TCACCAGATCCAGAAAGAAGA	0.323																																																1	Substitution - Missense(1)	kidney(1)											45	46	46					8																	6614716		2203	4300	6503	SO:0001583	missense	55326			AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20886	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, epsilon"	614796	"1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.902C>T	8.37:g.6614716C>T	ENSP00000285518:p.Pro301Leu		Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	CCDS34796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.253626|4.253626	0.80135|0.80135	.|.	.|.	ENSG00000155189|ENSG00000155189	ENST00000285518|ENST00000518327	T|.	0.62232|.	0.04|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.346377|.	0.34725|.	N|.	0.003723|.	T|.	0.75803|.	0.3899|.	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.51791|.	0.948|.	B|.	0.43103|.	0.408|.	T|.	0.73167|.	-0.4068|.	10|.	0.11485|.	T|.	0.65|.	-10.8366|-10.8366	18.073|18.073	0.89417|0.89417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	301|.	Q9NUQ2|.	PLCE_HUMAN|.	L|X	301|118	ENSP00000285518:P301L|.	ENSP00000285518:P301L|.	P|Q	+|+	2|1	0|0	AGPAT5|AGPAT5	6602124|6602124	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.436000|4.436000	0.59948|0.59948	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CCA|CAG		0.323	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		T	6614716	C	T	6614716	3	4	439	1	0	0	0	0	1	0	0	0	390	594	21	2	932	2	AGPAT5	8	6614716	Missense_Mutation	SNP	C	TCGA-BP-5190-01A-01D-1429-08		6614716	139749306	22	24021											
EEF1D	1936	hgsc.bcm.edu;ucsc.edu	37	8	144672056	144672056	+	Intron	SNP	G	G	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr8:144672056G>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.P116S|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.P66S|EEF1D_ENST00000442189.2_Missense_Mutation_p.P66S|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000395119.3_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCGCCGTCAGGGGCTTCCGCC	0.706																																																0													15	17	16					8																	144672056		2196	4296	6492	SO:0001627	intron_variant	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-3037C>T	8.37:g.144672056G>A			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	3.043	-0.197028	0.06259	.	.	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000356793;ENST00000337369;ENST00000526710;ENST00000531281;ENST00000532596;ENST00000524883;ENST00000531670;ENST00000528519;ENST00000529832;ENST00000530306;ENST00000530545;ENST00000525261;ENST00000534804	.	.	.	3.39	3.39	0.38822	.	1.083410	0.07314	N	0.876453	T	0.34366	0.0895	L	0.44542	1.39	0.25427	N	0.988217	B;B;B	0.30326	0.063;0.276;0.103	B;B;B	0.25140	0.026;0.045;0.058	T	0.24728	-1.0152	9	0.62326	D	0.03	.	6.8291	0.23900	0.0:0.3278:0.4933:0.1789	.	66;116;66	D3DWK1;E9PRY8;P29692-2	.;.;.	S	116;66;66;18;66;66;66;66;66;66;66;66;66;66;66;66	.	ENSP00000338323:P66S	P	-	1	0	EEF1D	144743199	0.000000	0.05858	0.056000	0.19401	0.149000	0.21700	0.167000	0.16602	2.219000	0.72066	0.484000	0.47621	CCT		0.706	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		A	144672056	G	A	144672056	1	1	439	0	1	0	0	0	0	0	0	0	4928	1232	43	2		2	EEF1D	8	144672056	Intron	SNP	G	TCGA-BP-5190-01A-01D-1429-08	138057340	144672056	1691966	23	24022											
DIP2C	22982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	430563	430563	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr10:430563A>G	ENST00000280886.6	-	15	1766	c.1679T>C	c.(1678-1680)aTg>aCg	p.M560T	DIP2C_ENST00000381496.3_Missense_Mutation_p.M453T	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	560						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.M560T(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GATCACATGCATCATGTTCAT	0.577																																																1	Substitution - Missense(1)	kidney(1)											180	147	158					10																	430563		2203	4300	6503	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1679T>C	10.37:g.430563A>G	ENSP00000280886:p.Met560Thr		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.4|20.4	3.978995|3.978995	0.74360|0.74360	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000421992|ENST00000280886;ENST00000381496	.|T;T	.|0.39997	.|1.05;1.05	5.55|5.55	5.55|5.55	0.83447|0.83447	.|AMP-dependent synthetase/ligase (1);	.|0.038788	.|0.85682	.|D	.|0.000000	T|T	0.59321|0.59321	0.2185|0.2185	M|M	0.80746|0.80746	2.51|2.51	0.49798|0.49798	D|D	0.999828|0.999828	.|P;P	.|0.37731	.|0.607;0.482	.|P;P	.|0.50896	.|0.574;0.653	T|T	0.56727|0.56727	-0.7931|-0.7931	5|10	.|0.21540	.|T	.|0.41	-51.3092|-51.3092	15.7042|15.7042	0.77565|0.77565	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|453;560	.|E7EPU2;Q9Y2E4	.|.;DIP2C_HUMAN	R|T	28|560;453	.|ENSP00000280886:M560T;ENSP00000370907:M453T	.|ENSP00000280886:M560T	C|M	-|-	1|2	0|0	DIP2C|DIP2C	420563|420563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	9.279000|9.279000	0.95777|0.95777	2.113000|2.113000	0.64589|0.64589	0.379000|0.379000	0.24179|0.24179	TGC|ATG		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		G	430563	A	G	430563	3	3	439	1	0	0	0	0	1	0	0	0	4531	217	8	3	3083	3	DIP2C	10	430563	Missense_Mutation	SNP	A	TCGA-BP-5190-01A-01D-1429-08		430563	135104184	24	24023											
FUT11	170384	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75533416	75533416	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr10:75533416G>C	ENST00000372841.3	+	2	1220	c.1177G>C	c.(1177-1179)Gac>Cac	p.D393H	RMRPP1_ENST00000517236.1_RNA|FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Missense_Mutation_p.D393H|AC022400.2_ENST00000595757.1_5'Flank	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	393					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.D393H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TTTCGTCTGTGACTACGAACT	0.572																																																1	Substitution - Missense(1)	kidney(1)											93	92	92					10																	75533416		2203	4300	6503	SO:0001583	missense	170384			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"Fucosyltransferases"	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1177G>C	10.37:g.75533416G>C	ENSP00000361932:p.Asp393His		Q495W7|Q8IYE4	Missense_Mutation	SNP	ENST00000372841.3	37	CCDS7333.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841180	0.91197	.	.	ENSG00000196968	ENST00000372841;ENST00000394790	T;T	0.24908	1.83;1.83	5.68	5.68	0.88126	.	0.042189	0.85682	D	0.000000	T	0.44286	0.1286	M	0.83483	2.645	0.80722	D	1	P;P	0.42248	0.774;0.732	P;B	0.44897	0.463;0.333	T	0.49698	-0.8912	10	0.72032	D	0.01	-32.6689	19.786	0.96437	0.0:0.0:1.0:0.0	.	393;393	Q495W5;Q495W5-2	FUT11_HUMAN;.	H	393	ENSP00000361932:D393H;ENSP00000378270:D393H	ENSP00000361932:D393H	D	+	1	0	FUT11	75203422	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.062000	0.89475	2.676000	0.91093	0.563000	0.77884	GAC		0.572	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		C	75533416	G	C	75533416	3	2	439	1	0	0	0	0	1	0	0	0	6105	1290	45	4	1183	4	FUT11	10	75533416	Missense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08	75102853	75533416	60001331	25	24024											
MUC6	4588	broad.mit.edu	37	11	1017647	1017647	+	Silent	SNP	G	G	T			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr11:1017647G>T	ENST00000421673.2	-	31	5204	c.5154C>A	c.(5152-5154)ccC>ccA	p.P1718P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1718	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.P1718P(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTACTGGTGGGGTTGGGGG	0.517																																																4	Substitution - coding silent(4)	lung(2)|kidney(2)											557	554	555					11																	1017647		2192	4277	6469	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5154C>A	11.37:g.1017647G>T			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.517	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1017647	G	T	1017647	2	4	439	1	0	0	0	0	0	0	0	1	9982	1335	47	4		4	MUC6	11	1017647	Silent	SNP	G	TCGA-BP-5190-01A-01D-1429-08		1017647	133988869	26	24025											
RAG2	5897	hgsc.bcm.edu	37	11	36614395	36614396	+	Frame_Shift_Ins	INS	-	-	G	rs370624669		TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr11:36614395_36614396insG	ENST00000311485.3	-	2	1484_1485	c.1323_1324insC	c.(1321-1326)cccgccfs	p.A442fs	RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	442					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TAGATCATGGCGGGTTTGTTGA	0.495									Familial Hemophagocytic Lymphohistiocytosis																																							0																																										SO:0001589	frameshift_variant	5897	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1324dupC	11.37:g.36614398_36614398dupG	ENSP00000308620:p.Ala442fs		A8K9E9|Q8TBL4	Frame_Shift_Ins	INS	ENST00000311485.3	37	CCDS7903.1																																																																																				0.495	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		G	36614396	-	G	36614395	7	5	439	1	0	1	1	0	0	0	0	0	13011	768	27	0	263	0	RAG2	11	36614395	Frame_Shift_Ins	INS	-	TCGA-BP-5190-01A-01D-1429-08	35596748	36614395	98392121	27	24026											
CD6	923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60785461	60785461	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr11:60785461G>A	ENST00000313421.7	+	11	1999	c.1813G>A	c.(1813-1815)Gcc>Acc	p.A605T	CD6_ENST00000346437.4_Missense_Mutation_p.A532T|CD6_ENST00000352009.5_Missense_Mutation_p.A573T|CD6_ENST00000452451.2_Missense_Mutation_p.A564T|CD6_ENST00000344028.5_Missense_Mutation_p.A573T	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	605					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)	p.A605T(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CTTGGAGCTGGCCGGCACCCA	0.582																																					Pancreas(169;904 2017 4767 38890 42505)											2	Substitution - Missense(2)	kidney(2)											42	47	45					11																	60785461		2199	4290	6489	SO:0001583	missense	923				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1813G>A	11.37:g.60785461G>A	ENSP00000323280:p.Ala605Thr		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626869	0.87560	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009	T;T;T;T;T	0.02812	4.21;4.15;4.31;4.44;4.63	5.18	5.18	0.71444	.	1.103240	0.07185	N	0.854712	T	0.16041	0.0386	M	0.66939	2.045	0.28268	N	0.924543	D;D;P;P	0.89917	1.0;1.0;0.836;0.635	D;D;B;B	0.87578	0.998;0.998;0.43;0.081	T	0.13872	-1.0493	10	0.87932	D	0	.	14.1921	0.65644	0.0:0.0:1.0:0.0	.	564;573;605;605	P30203-5;P30203-4;P30203;Q8N4Q7	.;.;CD6_HUMAN;.	T	573;532;605;564;573	ENSP00000344108:A573T;ENSP00000345566:A532T;ENSP00000323280:A605T;ENSP00000390676:A564T;ENSP00000340628:A573T	ENSP00000323280:A605T	A	+	1	0	CD6	60542037	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	4.680000	0.61656	2.428000	0.82296	0.313000	0.20887	GCC		0.582	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		A	60785461	G	A	60785461	3	1	439	1	0	0	0	0	1	0	0	0	3030	1203	42	2	1855	2	CD6	11	60785461	Missense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08	24171066	60785461	74221055	28	24027											
ARID2	196528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46245701	46245701	+	Silent	SNP	C	C	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr12:46245701C>A	ENST00000334344.6	+	15	3967	c.3795C>A	c.(3793-3795)gtC>gtA	p.V1265V	ARID2_ENST00000444670.1_Silent_p.V875V|ARID2_ENST00000422737.1_Silent_p.V1116V|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1265					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1265V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAATTGAAGTCATGGAGAACC	0.433			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - coding silent(1)	kidney(1)											60	57	58					12																	46245701		2203	4300	6503	SO:0001819	synonymous_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3795C>A	12.37:g.46245701C>A			Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	CCDS31783.1																																																																																				0.433	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		A	46245701	C	A	46245701	2	1	439	1	0	0	0	0	0	0	0	1	915	813	29	4		4	ARID2	12	46245701	Silent	SNP	C	TCGA-BP-5190-01A-01D-1429-08		46245701	87606194	29	24028											
KSR2	283455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	118020150	118020150	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr12:118020150G>C	ENST00000339824.5	-	6	1913	c.1186C>G	c.(1186-1188)Cca>Gca	p.P396A	KSR2_ENST00000302438.5_Missense_Mutation_p.P93A|KSR2_ENST00000425217.1_Missense_Mutation_p.P367A|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	396					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P428A(1)|p.P93A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACCAGCGTGGCACTGACAGT	0.582																																																2	Substitution - Missense(2)	kidney(2)											115	119	118					12																	118020150		2112	4228	6340	SO:0001583	missense	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1186C>G	12.37:g.118020150G>C	ENSP00000339952:p.Pro396Ala		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	G	13.88	2.369413	0.42003	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.58940	0.3;0.3;0.3	4.94	3.1	0.35709	.	0.062089	0.64402	D	0.000003	T	0.46502	0.1396	L	0.39898	1.24	0.54753	D	0.999989	P	0.42871	0.792	B	0.39339	0.297	T	0.40308	-0.9570	10	0.54805	T	0.06	.	10.1663	0.42882	0.1678:0.0:0.8322:0.0	.	396	Q6VAB6	KSR2_HUMAN	A	367;396;93;68	ENSP00000389715:P367A;ENSP00000339952:P396A;ENSP00000305466:P93A	ENSP00000305466:P93A	P	-	1	0	KSR2	116504533	1.000000	0.71417	0.971000	0.41717	0.194000	0.23727	8.891000	0.92485	0.495000	0.27882	0.313000	0.20887	CCA		0.582	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		C	118020150	G	C	118020150	3	2	439	1	0	0	0	0	1	0	0	0	8584	1203	42	4	1726	4	KSR2	12	118020150	Missense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08	71774449	118020150	15831745	30	24029											
POSTN	10631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	38154095	38154095	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr13:38154095C>A	ENST00000379747.4	-	12	1680	c.1563G>T	c.(1561-1563)ttG>ttT	p.L521F	POSTN_ENST00000379749.4_Missense_Mutation_p.L521F|POSTN_ENST00000541481.1_Missense_Mutation_p.L521F|POSTN_ENST00000379743.4_Missense_Mutation_p.L521F|POSTN_ENST00000379742.4_Missense_Mutation_p.L521F|POSTN_ENST00000541179.1_Missense_Mutation_p.L521F	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	521	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.L521F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GGAGCTCTTTCAAGTCTGCAG	0.398																																																1	Substitution - Missense(1)	kidney(1)											166	149	155					13																	38154095		2203	4300	6503	SO:0001583	missense	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1563G>T	13.37:g.38154095C>A	ENSP00000369071:p.Leu521Phe		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630754	0.67015	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27;-3.27	5.42	4.58	0.56647	FAS1 domain (4);	0.124470	0.56097	D	0.000032	D	0.97018	0.9026	M	0.92604	3.325	0.51233	D	0.999915	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.995;0.999;0.996;0.995;0.995	D	0.96819	0.9602	10	0.49607	T	0.09	-3.8608	10.9396	0.47266	0.0:0.8011:0.0:0.1989	.	521;521;521;521;521;521;521	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	F	521	ENSP00000437959:L521F;ENSP00000369073:L521F;ENSP00000369071:L521F;ENSP00000369067:L521F;ENSP00000369066:L521F;ENSP00000437953:L521F	ENSP00000369066:L521F	L	-	3	2	POSTN	37052095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.455000	0.44988	1.420000	0.47138	0.591000	0.81541	TTG		0.398	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		A	38154095	C	A	38154095	3	1	439	1	0	0	0	0	1	0	0	0	12261	825	29	4	995	4	POSTN	13	38154095	Missense_Mutation	SNP	C	TCGA-BP-5190-01A-01D-1429-08		38154095	77015783	31	24030											
GAS6	2621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	114549554	114549554	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr13:114549554T>G	ENST00000327773.6	-	4	435	c.289A>C	c.(289-291)Aac>Cac	p.N97H	GAS6_ENST00000355761.4_Missense_Mutation_p.N43H|GAS6_ENST00000476291.1_5'Flank|GAS6_ENST00000357389.3_Missense_Mutation_p.N97H	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	97					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)	p.N97H(1)		central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCATACTTGTTGATGCAGTCT	0.542																																																1	Substitution - Missense(1)	kidney(1)											174	152	160					13																	114549554		2203	4300	6503	SO:0001583	missense	2621				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.289A>C	13.37:g.114549554T>G	ENSP00000331831:p.Asn97His		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	T	6.883	0.532357	0.13127	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000327773	D;D;D	0.99771	-6.71;-2.3;-6.71	3.81	-0.607	0.11615	.	.	.	.	.	D	0.98924	0.9635	M	0.75777	2.31	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.99978	1.2340	9	0.34782	T	0.22	0.1569	5.4147	0.16368	0.0:0.1042:0.3281:0.5677	.	97	Q14393-2	.	H	97;43;97	ENSP00000349962:N97H;ENSP00000348003:N43H;ENSP00000331831:N97H	ENSP00000331831:N97H	N	-	1	0	GAS6	113564389	0.070000	0.21116	0.000000	0.03702	0.002000	0.02628	0.141000	0.16076	-0.116000	0.11893	-2.436000	0.00213	AAC		0.542	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		G	114549554	T	G	114549554	3	3	439	1	0	0	0	0	1	0	0	0	6251	1812	63	5	1795	5	GAS6	13	114549554	Missense_Mutation	SNP	T	TCGA-BP-5190-01A-01D-1429-08	76395459	114549554	620324	32	24031											
OR4M2	390538	broad.mit.edu;hgsc.bcm.edu	37	15	22369272	22369272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr15:22369272G>T	ENST00000332663.2	+	1	795	c.697G>T	c.(697-699)Gag>Tag	p.E233*	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E233*(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGGCTCAGGTGAGAATACCAA	0.463																																																1	Substitution - Nonsense(1)	kidney(1)											328	225	259					15																	22369272		2203	4300	6503	SO:0001587	stop_gained	390538			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.697G>T	15.37:g.22369272G>T	ENSP00000329467:p.Glu233*		B9EH16|Q6IEY2	Nonsense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.069657	0.76301	.	.	ENSG00000182974	ENST00000332663	.	.	.	2.5	1.56	0.23342	.	0.147283	0.32068	N	0.006636	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.618	3.1274	0.06412	0.1553:0.0:0.5837:0.261	.	.	.	.	X	233	.	ENSP00000329467:E233X	E	+	1	0	OR4M2	19870636	0.000000	0.05858	0.746000	0.31095	0.854000	0.48673	-0.049000	0.11924	0.390000	0.25115	0.448000	0.29417	GAG		0.463	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			T	22369272	G	T	22369272	4	4	439	1	0	0	0	0	0	1	0	0	11078	1291	45	4	699	4	OR4M2	15	22369272	Nonsense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08		22369272	80162120	33	24032											
MINK1	50488	broad.mit.edu;hgsc.bcm.edu	37	17	4794820	4794820	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr17:4794820G>A	ENST00000355280.6	+	16	2006	c.1810G>A	c.(1810-1812)Gac>Aac	p.D604N	MINK1_ENST00000453408.3_Missense_Mutation_p.D584N|MINK1_ENST00000347992.7_Missense_Mutation_p.D604N	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1									p.D604N(2)		central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GTCCCTGCAGGACCAGCCCAC	0.677																																																2	Substitution - Missense(2)	kidney(2)											39	51	47					17																	4794820		2088	4213	6301	SO:0001583	missense	50488			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.1810G>A	17.37:g.4794820G>A	ENSP00000347427:p.Asp604Asn			Missense_Mutation	SNP	ENST00000355280.6	37	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231166	0.95207	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.47177	0.85;0.85;0.85	5.02	5.02	0.67125	.	0.111770	0.64402	D	0.000019	T	0.63977	0.2557	L	0.55481	1.735	0.58432	D	0.999998	D;D;D;D	0.67145	0.996;0.996;0.993;0.996	D;D;D;D	0.73708	0.981;0.981;0.956;0.981	T	0.65973	-0.6038	10	0.72032	D	0.01	.	15.8757	0.79159	0.0:0.0:1.0:0.0	.	604;584;604;604	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	N	604;584;604	ENSP00000347427:D604N;ENSP00000406487:D584N;ENSP00000269296:D604N	ENSP00000269296:D604N	D	+	1	0	MINK1	4735596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.120000	0.94369	2.615000	0.88500	0.561000	0.74099	GAC		0.677	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		A	4794820	G	A	4794820	3	1	439	1	0	0	0	0	1	0	0	0	9589	1174	41	2	1611	2	MINK1	17	4794820	Missense_Mutation	SNP	G	TCGA-BP-5190-01A-01D-1429-08		4794820	76400390	34	24033											
ELAC2	60528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	12920219	12920219	+	Silent	SNP	G	G	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr17:12920219G>A	ENST00000338034.4	-	3	566	c.327C>T	c.(325-327)ttC>ttT	p.F109F	ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000578071.1_Silent_p.F109F|ELAC2_ENST00000395962.2_Silent_p.F90F|ELAC2_ENST00000426905.3_Silent_p.F109F	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	109					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F109F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TTCGTGTCAGGAATATGTTGT	0.413																																																1	Substitution - coding silent(1)	kidney(1)											120	109	112					17																	12920219		2203	4300	6503	SO:0001819	synonymous_variant	60528			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.327C>T	17.37:g.12920219G>A			B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	CCDS11164.1																																																																																				0.413	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			A	12920219	G	A	12920219	2	1	439	1	0	0	0	0	0	0	0	1	5049	1165	41	2		2	ELAC2	17	12920219	Silent	SNP	G	TCGA-BP-5190-01A-01D-1429-08	8125399	12920219	68274991	35	24034											
KRT27	342574	broad.mit.edu;ucsc.edu	37	17	38933946	38933946	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr17:38933946A>T	ENST00000301656.3	-	6	1051	c.1011T>A	c.(1009-1011)agT>agA	p.S337R	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27									p.S337R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CACAGTAGTTACTCTCGGTCT	0.527																																																1	Substitution - Missense(1)	kidney(1)											147	146	147					17																	38933946		2203	4300	6503	SO:0001583	missense	342574			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1011T>A	17.37:g.38933946A>T	ENSP00000301656:p.Ser337Arg			Missense_Mutation	SNP	ENST00000301656.3	37	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	a	9.507	1.104668	0.20632	.	.	ENSG00000171446	ENST00000301656	D	0.88431	-2.38	5.7	1.25	0.21368	Filament (1);	0.085006	0.51477	D	0.000089	T	0.78413	0.4279	L	0.31294	0.92	0.23162	N	0.998192	B	0.06786	0.001	B	0.08055	0.003	T	0.67650	-0.5616	10	0.72032	D	0.01	.	3.422	0.07397	0.194:0.2089:0.4902:0.107	.	337	Q7Z3Y8	K1C27_HUMAN	R	337	ENSP00000301656:S337R	ENSP00000301656:S337R	S	-	3	2	KRT27	36187472	0.000000	0.05858	1.000000	0.80357	0.140000	0.21249	-1.281000	0.02802	0.438000	0.26450	-0.802000	0.03209	AGT		0.527	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		T	38933946	A	T	38933946	3	4	439	1	0	0	0	0	1	0	0	0	8466	388	14	5	380	5	KRT27	17	38933946	Missense_Mutation	SNP	A	TCGA-BP-5190-01A-01D-1429-08	26013727	38933946	42261264	36	24035											
ARL16	339231	hgsc.bcm.edu	37	17	79650800	79650800	+	Frame_Shift_Del	DEL	C	C	-	rs200303242	byFrequency	TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr17:79650800delC	ENST00000397498.4	-	1	154	c.56delG	c.(55-57)ggtfs	p.G20fs	ARL16_ENST00000573392.1_5'Flank|ARL16_ENST00000576135.1_5'Flank|ARL16_ENST00000570561.1_5'Flank|HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000574938.1_5'Flank	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	20					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTTCGCTCCACCCGGCACCCG	0.652																																																0													16	19	18					17																	79650800		1907	4101	6008	SO:0001589	frameshift_variant	339231				CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.56delG	17.37:g.79650800delC	ENSP00000380635:p.Gly20fs			Frame_Shift_Del	DEL	ENST00000397498.4	37	CCDS45813.1																																																																																				0.652	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440514.1	XM_290777		-	79650800	C	-	79650800	7	5	439	1	0	1	0	1	0	0	0	0	932	507	18	0	557	0	ARL16	17	79650800	Frame_Shift_Del	DEL	C	TCGA-BP-5190-01A-01D-1429-08	40716854	79650800	1544410	37	24036											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9009312	9009313	+	Missense_Mutation	DNP	GA	GA	AT	rs553681175		TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr19:9009312_9009313GA>AT	ENST00000397910.4	-	40	39363_39364	c.39160_39161TC>AT	c.(39160-39162)TCc>ATc	p.S13054I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13056	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S13054F(1)|p.S206F(1)|p.S206I(1)|p.S13054I(1)|p.S13054T(1)|p.S206T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCGACACTGGAGTTCTTGAAC	0.52																																																6	Substitution - Missense(6)	kidney(6)																																								SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39160_39161delinsAT	19.37:g.9009312_9009313delinsAT	ENSP00000381008:p.Ser13054Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.52	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		AT	9009313	GA	AT	9009312	3	1	439	1	0	0	0	0	1	0	0	0	9975	1174	41	2	4542	2	MUC16	19	9009312	Missense_Mutation	DNP	GA	TCGA-BP-5190-01A-01D-1429-08		9009312	50119671	38	24037											
PEPD	5184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	33902626	33902626	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr19:33902626C>A	ENST00000244137.7	-	11	803	c.770G>T	c.(769-771)gGa>gTa	p.G257V	PEPD_ENST00000436370.3_Missense_Mutation_p.G193V|PEPD_ENST00000397032.4_Missense_Mutation_p.G216V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	257					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.G257V(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					TCCGGCGTGTCCGTAGTGTAG	0.597																																																1	Substitution - Missense(1)	kidney(1)											49	54	52					19																	33902626		2036	4171	6207	SO:0001583	missense	5184			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.770G>T	19.37:g.33902626C>A	ENSP00000244137:p.Gly257Val		A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974274	0.53720	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.75367	-0.93;-0.93;-0.93	5.06	5.06	0.68205	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.80778	0.4688	L	0.41710	1.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82619	-0.0368	10	0.87932	D	0	-14.0637	13.9282	0.63975	0.0:1.0:0.0:0.0	.	193;216;257	E9PCE8;A8MX47;P12955	.;.;PEPD_HUMAN	V	257;216;193	ENSP00000244137:G257V;ENSP00000380226:G216V;ENSP00000391890:G193V	ENSP00000244137:G257V	G	-	2	0	PEPD	38594466	1.000000	0.71417	0.901000	0.35422	0.064000	0.16182	6.020000	0.70826	2.352000	0.79861	0.561000	0.74099	GGA		0.597	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		A	33902626	C	A	33902626	3	1	439	1	0	0	0	0	1	0	0	0	11730	855	30	4	731	4	PEPD	19	33902626	Missense_Mutation	SNP	C	TCGA-BP-5190-01A-01D-1429-08	24893314	33902626	25226357	39	24038											
MLL4	9757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36219945	36219945	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr19:36219945C>T	ENST00000222270.7	+	21	4747	c.4747C>T	c.(4747-4749)Ctc>Ttc	p.L1583F	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.L1583F	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1583					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L1585F(1)									TCAGTGTGCACTCTGCCTCAA	0.592																																																1	Substitution - Missense(1)	kidney(1)											78	81	80					19																	36219945		2072	4210	6282	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4747C>T	19.37:g.36219945C>T	ENSP00000222270:p.Leu1583Phe		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750094	0.49257	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.87809	-2.3;-2.3	5.13	5.13	0.70059	.	0.000000	0.40385	N	0.001114	D	0.84047	0.5386	L	0.49350	1.555	0.58432	D	0.999994	P	0.48503	0.911	B	0.42916	0.402	T	0.81632	-0.0845	10	0.18710	T	0.47	.	16.1185	0.81325	0.0:1.0:0.0:0.0	.	1583	Q9UMN6	MLL4_HUMAN	F	1583	ENSP00000222270:L1583F;ENSP00000398837:L1583F	ENSP00000222270:L1583F	L	+	1	0	AD000671.1	40911785	0.958000	0.32768	0.982000	0.44146	0.826000	0.46750	2.126000	0.42026	2.669000	0.90835	0.655000	0.94253	CTC		0.592	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		T	36219945	C	T	36219945	3	4	439	1	0	0	0	0	1	0	0	0	9625	565	20	2	4829	2	MLL4	19	36219945	Missense_Mutation	SNP	C	TCGA-BP-5190-01A-01D-1429-08	2317319	36219945	22909038	40	24039											
TMEM149	79713	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36231433	36231433	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chr19:36231433C>T	ENST00000592537.1	-	3	290	c.190G>A	c.(190-192)Gac>Aac	p.D64N	AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000246532.1_Missense_Mutation_p.D64N|IGFLR1_ENST00000344990.3_Intron|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000592889.1_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D64N(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TCGCCGTGGTCATTGAGTCCG	0.657																																																1	Substitution - Missense(1)	kidney(1)											39	34	35					19																	36231433		2203	4300	6503	SO:0001583	missense	0			AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 4", "transmembrane protein 149"	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.190G>A	19.37:g.36231433C>T	ENSP00000466181:p.Asp64Asn		Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520528	0.85495	.	.	ENSG00000126246	ENST00000246532	D	0.92397	-3.03	4.76	3.72	0.42706	.	0.065095	0.56097	N	0.000021	D	0.86732	0.6003	L	0.34521	1.04	0.37381	D	0.912024	B	0.27498	0.18	B	0.31442	0.13	D	0.85496	0.1188	10	0.49607	T	0.09	-18.3714	9.1812	0.37143	0.0:0.8999:0.0:0.1001	.	64	Q9H665	IGFR1_HUMAN	N	64	ENSP00000246532:D64N	ENSP00000246532:D64N	D	-	1	0	IGFLR1	40923273	0.002000	0.14202	0.055000	0.19348	0.297000	0.27493	0.841000	0.27613	1.372000	0.46190	0.561000	0.74099	GAC		0.657	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		T	36231433	C	T	36231433	3	4	439	1	0	0	0	0	1	0	0	0	16067	826	29	2	889	2	TMEM149	19	36231433	Missense_Mutation	SNP	C	TCGA-BP-5190-01A-01D-1429-08	11488	36231433	22897550	41	24040											
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53228204	53228204	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chrX:53228204T>G	ENST00000375401.3	-	15	2730	c.2198A>C	c.(2197-2199)cAc>cCc	p.H733P	KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000452825.3_Missense_Mutation_p.H666P|KDM5C_ENST00000404049.3_Missense_Mutation_p.H732P|KDM5C_ENST00000375383.3_Missense_Mutation_p.H692P|KDM5C_ENST00000375379.3_Missense_Mutation_p.H733P	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	733					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.H666P(1)|p.H733P(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATCATTGATGTGGGAAAGGCA	0.577			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Missense(2)	kidney(2)											135	103	114					X																	53228204		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2198A>C	X.37:g.53228204T>G	ENSP00000364550:p.His733Pro		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	t	20.8	4.047081	0.75846	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82	4.69	4.69	0.59074	Zinc finger, C5HC2-type (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	D	0.98528	1.0626	10	0.87932	D	0	-8.6508	11.2689	0.49127	0.0:0.0:0.0:1.0	.	666;732;733	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	P	666;733;732;733;692	ENSP00000445176:H666P;ENSP00000364550:H733P;ENSP00000385394:H732P;ENSP00000364528:H733P;ENSP00000364532:H692P	ENSP00000364528:H733P	H	-	2	0	KDM5C	53244929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.161000	0.71868	1.556000	0.49512	0.422000	0.28245	CAC		0.577	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		G	53228204	T	G	53228204	3	3	439	1	0	0	0	0	1	0	0	0	8137	1696	59	5	2630	5	KDM5C	23	53228204	Missense_Mutation	SNP	T	TCGA-BP-5190-01A-01D-1429-08		53228204	102042356	42	24041											
MAGEE2	139599	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	75004670	75004670	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chrX:75004670C>A	ENST00000373359.2	-	1	409	c.217G>T	c.(217-219)Gac>Tac	p.D73Y		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	73								p.D73Y(2)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACTGCTCGTCGATCAGGACC	0.557																																																2	Substitution - Missense(2)	autonomic_ganglia(1)|kidney(1)											40	38	39					X																	75004670		2203	4300	6503	SO:0001583	missense	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.217G>T	X.37:g.75004670C>A	ENSP00000362457:p.Asp73Tyr		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	8.446	0.852016	0.17034	.	.	ENSG00000186675	ENST00000373359	T	0.04234	3.67	2.87	1.09	0.20402	.	.	.	.	.	T	0.04003	0.0112	N	0.19112	0.55	0.18873	N	0.999986	D	0.53885	0.963	P	0.45310	0.476	T	0.41910	-0.9482	9	0.66056	D	0.02	.	4.6539	0.12608	0.0:0.6797:0.0:0.3203	.	73	Q8TD90	MAGE2_HUMAN	Y	73	ENSP00000362457:D73Y	ENSP00000362457:D73Y	D	-	1	0	MAGEE2	74921395	0.252000	0.23972	0.357000	0.25798	0.875000	0.50365	0.303000	0.19210	0.169000	0.19679	-0.305000	0.09177	GAC		0.557	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		A	75004670	C	A	75004670	3	1	439	1	0	0	0	0	1	0	0	0	9188	884	31	4	1358	4	MAGEE2	23	75004670	Missense_Mutation	SNP	C	TCGA-BP-5190-01A-01D-1429-08	21776466	75004670	80265890	43	24042											
HCFC1	3054	broad.mit.edu	37	X	153236256	153236256	+	Silent	SNP	C	C	A			TCGA-BP-5190-01A-01D-1429-08	TCGA-BP-5190-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5491645b-552c-47a9-b081-e8e508d1df3d	d2f881a8-f629-40a3-a179-3f8749a51d48	g.chrX:153236256C>A	ENST00000310441.7	-	1	1002	c.36G>T	c.(34-36)gcG>gcT	p.A12A	HCFC1_ENST00000354233.3_Silent_p.A12A|HCFC1-AS1_ENST00000438219.1_RNA|HCFC1_ENST00000369984.4_Silent_p.A12A|TMEM187_ENST00000369982.4_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	12					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A12A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAAGCACCGCTGGCAAGT	0.677																																																1	Substitution - coding silent(1)	kidney(1)											13	12	13					X																	153236256		1863	4022	5885	SO:0001819	synonymous_variant	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.36G>T	X.37:g.153236256C>A			Q6P4G5	Silent	SNP	ENST00000310441.7	37	CCDS44020.1																																																																																				0.677	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		A	153236256	C	A	153236256	2	1	439	1	0	0	0	0	0	0	0	1	6993	639	23	4		4	HCFC1	23	153236256	Silent	SNP	C	TCGA-BP-5190-01A-01D-1429-08	78231586	153236256	2034304	44	24043											
APITD1	378708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10502399	10502399	+	Silent	SNP	A	A	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:10502399A>G	ENST00000309048.3	+	5	429	c.354A>G	c.(352-354)tcA>tcG	p.S118S	APITD1-CORT_ENST00000400900.2_Intron|APITD1_ENST00000602787.1_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000462462.1_3'UTR	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1	118					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S118S(1)		kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AAAAGAAGTCAGAGGATGGAA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											71	76	74					1																	10502399		2203	4300	6503	SO:0001819	synonymous_variant	378708			BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"centromere protein S"	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.354A>G	1.37:g.10502399A>G			Q8NFE5|Q8NFG5	Silent	SNP	ENST00000309048.3	37	CCDS115.1																																																																																				0.408	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2	NM_199294		G	10502399	A	G	10502399	2	3	440	1	0	0	0	0	0	0	0	1	775	175	7	3		3	APITD1	1	10502399	Silent	SNP	A	TCGA-BP-5191-01A-01D-1429-08		10502399	238748222	1	24044											
UBIAD1	29914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11345987	11345987	+	Missense_Mutation	SNP	C	C	A	rs373426663		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:11345987C>A	ENST00000376810.5	+	2	1142	c.816C>A	c.(814-816)ttC>ttA	p.F272L	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	272					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)	p.F272L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ACCTGGTCTTCAGCATCCTGG	0.587																																																1	Substitution - Missense(1)	kidney(1)											234	168	190					1																	11345987		2203	4300	6503	SO:0001583	missense	29914				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.816C>A	1.37:g.11345987C>A	ENSP00000366006:p.Phe272Leu		B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	CCDS129.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971897	0.53614	.	.	ENSG00000120942	ENST00000376810	D	0.91631	-2.88	6.08	5.16	0.70880	.	0.095871	0.64402	D	0.000001	D	0.86331	0.5907	L	0.33485	1.01	0.80722	D	1	B	0.18741	0.03	B	0.23716	0.048	T	0.80377	-0.1408	10	0.17369	T	0.5	-21.5168	11.0401	0.47825	0.0:0.8572:0.0:0.1428	.	272	Q9Y5Z9	UBIA1_HUMAN	L	272	ENSP00000366006:F272L	ENSP00000366006:F272L	F	+	3	2	UBIAD1	11268574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.987000	0.40687	1.555000	0.49500	0.591000	0.81541	TTC		0.587	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		A	11345987	C	A	11345987	3	1	440	1	0	0	0	0	1	0	0	0	16890	825	29	4	822	4	UBIAD1	1	11345987	Missense_Mutation	SNP	C	TCGA-BP-5191-01A-01D-1429-08	843588	11345987	237904634	2	24045											
ZBTB40	9923	hgsc.bcm.edu;ucsc.edu	37	1	22850736	22850737	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:22850736_22850737insT	ENST00000375647.4	+	17	3531_3532	c.3324_3325insT	c.(3325-3327)tgtfs	p.C1109fs	ZBTB40_ENST00000404138.1_Frame_Shift_Ins_p.C1109fs|ZBTB40_ENST00000374651.4_Frame_Shift_Ins_p.C997fs	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1109					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GGTGCTTGTACTGTGCTGCTAC	0.55																																																0																																										SO:0001589	frameshift_variant	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3325dupT	1.37:g.22850737_22850737dupT	ENSP00000364798:p.Cys1109fs		O75066|Q5TFU5|Q8N1R1	Frame_Shift_Ins	INS	ENST00000375647.4	37	CCDS224.1																																																																																				0.55	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		T	22850737	-	T	22850736	7	5	440	1	0	1	1	0	0	0	0	0	17547	576	20	0	3386	0	ZBTB40	1	22850736	Frame_Shift_Ins	INS	-	TCGA-BP-5191-01A-01D-1429-08	11504749	22850736	226399885	3	24046											
YY1AP1	55249	broad.mit.edu;hgsc.bcm.edu	37	1	155630682	155630682	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:155630682T>A	ENST00000295566.4	-	11	1180	c.1157A>T	c.(1156-1158)gAa>gTa	p.E386V	YY1AP1_ENST00000368339.5_Missense_Mutation_p.E478V|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E340V|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E340V|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E309V|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E329V|YY1AP1_ENST00000405763.3_3'UTR|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E309V|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E329V|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E340V|YY1AP1_ENST00000368340.5_Missense_Mutation_p.E458V|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E320V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.E186V|MSTO1_ENST00000452804.2_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	386					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E386V(1)|p.E478V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCGCAGTTCTTCCTGGATGGA	0.453																																																2	Substitution - Missense(2)	kidney(2)											92	87	89					1																	155630682		2203	4300	6503	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1157A>T	1.37:g.155630682T>A	ENSP00000295566:p.Glu386Val		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Nonsense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	t	14.93	2.681557	0.47991	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.26518	1.76;1.76;1.76;1.76;1.76;1.74;1.75;1.76;1.76;1.77;1.73;1.76	2.57	2.57	0.30868	.	0.642529	0.15097	N	0.280750	T	0.27169	0.0666	M	0.62723	1.935	0.80722	D	1	P;D;D;P;D	0.58970	0.752;0.98;0.96;0.948;0.984	B;P;P;P;P	0.61397	0.39;0.572;0.888;0.452;0.791	T	0.09465	-1.0673	10	0.62326	D	0.03	.	5.6211	0.17457	0.0:0.142:0.0:0.858	.	478;320;386;340;458	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	V	329;340;309;340;329;458;386;340;309;320;478;186	ENSP00000352134:E329V;ENSP00000347686:E340V;ENSP00000311138:E309V;ENSP00000316079:E340V;ENSP00000355298:E329V;ENSP00000357324:E458V;ENSP00000295566:E386V;ENSP00000357314:E340V;ENSP00000385791:E309V;ENSP00000385390:E320V;ENSP00000357323:E478V;ENSP00000437926:E186V	ENSP00000295566:E386V	E	-	2	0	YY1AP1	153897306	0.110000	0.22057	0.954000	0.39281	0.971000	0.66376	1.555000	0.36277	1.169000	0.42739	0.260000	0.18958	GAA		0.453	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		A	155630682	T	A	155630682	3	1	440	1	0	0	0	0	1	0	0	0	17513	1783	62	5	1237	5	YY1AP1	1	155630682	Missense_Mutation	SNP	T	TCGA-BP-5191-01A-01D-1429-08	132779946	155630682	93619939	4	24047											
EPRS	2058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	220213565	220213565	+	Silent	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:220213565G>A	ENST00000366923.3	-	2	362	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	31					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.S31S(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CTTCTTCAACGGAAATGCTGA	0.299																																																1	Substitution - coding silent(1)	kidney(1)											102	111	108					1																	220213565		2203	4300	6503	SO:0001819	synonymous_variant	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.93C>T	1.37:g.220213565G>A			A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	37	CCDS31027.1																																																																																				0.299	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		A	220213565	G	A	220213565	2	1	440	1	0	0	0	0	0	0	0	1	5193	1103	39	1		1	EPRS	1	220213565	Silent	SNP	G	TCGA-BP-5191-01A-01D-1429-08	64582883	220213565	29037056	5	24048											
LYST	1130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235918806	235918806	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:235918806A>C	ENST00000389794.3	-	25	7375	c.7201T>G	c.(7201-7203)Ttt>Gtt	p.F2401V	LYST_ENST00000389793.2_Missense_Mutation_p.F2401V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2401					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.F2401V(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTCGACCAAAGAACATTTCG	0.353																																																1	Substitution - Missense(1)	kidney(1)											172	169	170					1																	235918806		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7201T>G	1.37:g.235918806A>C	ENSP00000374444:p.Phe2401Val		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239910	0.79912	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.63255	-0.03;-0.03	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	L	0.57536	1.79	0.80722	D	1	D	0.62365	0.991	P	0.60236	0.871	T	0.71728	-0.4505	10	0.36615	T	0.2	.	15.8629	0.79040	1.0:0.0:0.0:0.0	.	2401	Q99698	LYST_HUMAN	V	2401	ENSP00000374444:F2401V;ENSP00000374443:F2401V	ENSP00000374443:F2401V	F	-	1	0	LYST	233985429	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.157000	0.77461	2.156000	0.67533	0.472000	0.43445	TTT		0.353	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235918806	A	C	235918806	3	2	440	1	0	0	0	0	1	0	0	0	9130	72	3	5	4320	5	LYST	1	235918806	Missense_Mutation	SNP	A	TCGA-BP-5191-01A-01D-1429-08	15705241	235918806	13331815	6	24049											
EPAS1	2034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	46587819	46587819	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr2:46587819G>T	ENST00000263734.3	+	5	1007	c.497G>T	c.(496-498)cGg>cTg	p.R166L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	166					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.R166L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCCACAGAGCGGGACTTCTTC	0.493																																																1	Substitution - Missense(1)	kidney(1)											78	74	75					2																	46587819		2203	4300	6503	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.497G>T	2.37:g.46587819G>T	ENSP00000263734:p.Arg166Leu		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726128	0.89298	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.34859	1.34;1.34	4.7	4.7	0.59300	.	0.120757	0.56097	N	0.000039	T	0.69160	0.3080	H	0.96333	3.805	0.58432	D	0.999991	D	0.76494	0.999	D	0.72075	0.976	T	0.78041	-0.2359	10	0.87932	D	0	.	11.3757	0.49726	0.0826:0.0:0.9174:0.0	.	166	Q99814	EPAS1_HUMAN	L	166	ENSP00000406137:R166L;ENSP00000263734:R166L	ENSP00000263734:R166L	R	+	2	0	EPAS1	46441323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.455000	0.73497	2.468000	0.83385	0.555000	0.69702	CGG		0.493	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		T	46587819	G	T	46587819	3	4	440	1	0	0	0	0	1	0	0	0	5152	1116	39	4	515	4	EPAS1	2	46587819	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08		46587819	196611554	7	24050											
UPP2	151531	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158971713	158971713	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr2:158971713T>C	ENST00000005756.4	+	3	475	c.281T>C	c.(280-282)aTc>aCc	p.I94T	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.I151T|UPP2_ENST00000605860.1_Missense_Mutation_p.I151T	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	94					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)	p.I94T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	ATAAAAGACATCTGTGCTGGG	0.473																																																1	Substitution - Missense(1)	kidney(1)											107	106	106					2																	158971713		2203	4300	6503	SO:0001583	missense	151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.281T>C	2.37:g.158971713T>C	ENSP00000005756:p.Ile94Thr		B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.836138	0.71373	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.44482	0.92;0.92	5.59	4.44	0.53790	Nucleoside phosphorylase domain (1);	0.050830	0.85682	D	0.000000	T	0.65544	0.2701	M	0.84773	2.715	0.58432	D	0.999998	D	0.71674	0.998	D	0.81914	0.995	T	0.69026	-0.5254	10	0.72032	D	0.01	.	10.6165	0.45454	0.0:0.0764:0.0:0.9236	.	94	O95045	UPP2_HUMAN	T	151;94	ENSP00000387230:I151T;ENSP00000005756:I94T	ENSP00000005756:I94T	I	+	2	0	UPP2	158679959	1.000000	0.71417	0.914000	0.36105	0.885000	0.51271	4.985000	0.63845	0.950000	0.37743	-0.274000	0.10170	ATC		0.473	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		C	158971713	T	C	158971713	3	2	440	1	0	0	0	0	1	0	0	0	17018	1435	50	3	470	3	UPP2	2	158971713	Missense_Mutation	SNP	T	TCGA-BP-5191-01A-01D-1429-08	112383894	158971713	84227660	8	24051											
SCN2A	6326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	166170262	166170262	+	Silent	SNP	T	T	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr2:166170262T>G	ENST00000375437.2	+	9	1457	c.1167T>G	c.(1165-1167)ctT>ctG	p.L389L	SCN2A_ENST00000357398.3_Silent_p.L389L|SCN2A_ENST00000283256.6_Silent_p.L389L|SCN2A_ENST00000375427.2_Silent_p.L389L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	389					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L389L(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGAAAACCTTTATCAACTGG	0.373																																																2	Substitution - coding silent(2)	kidney(2)											86	84	85					2																	166170262		2203	4299	6502	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1167T>G	2.37:g.166170262T>G			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																				0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		G	166170262	T	G	166170262	2	3	440	1	0	0	0	0	0	0	0	1	13922	1828	64	5		5	SCN2A	2	166170262	Silent	SNP	T	TCGA-BP-5191-01A-01D-1429-08	7198549	166170262	77029111	9	24052											
CCDC150	284992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	197511118	197511118	+	Missense_Mutation	SNP	C	C	A	rs568886595	byFrequency	TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr2:197511118C>A	ENST00000389175.4	+	2	201	c.66C>A	c.(64-66)aaC>aaA	p.N22K	CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	22								p.N22K(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCCACATCAACGCTACAGCTT	0.418																																																1	Substitution - Missense(1)	kidney(1)											174	161	165					2																	197511118		1929	4123	6052	SO:0001583	missense	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.66C>A	2.37:g.197511118C>A	ENSP00000373827:p.Asn22Lys		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	7.373	0.627165	0.14257	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.28895	1.59	4.53	-7.23	0.01480	.	0.448728	0.21732	N	0.069953	T	0.33059	0.0850	M	0.65975	2.015	0.24325	N	0.995022	P;D	0.55385	0.761;0.971	B;P	0.48873	0.209;0.593	T	0.41233	-0.9520	10	0.48119	T	0.1	.	14.5237	0.67873	0.0:0.2206:0.0:0.7794	.	22;22	Q8NCX0;F5H6M2	CC150_HUMAN;.	K	22	ENSP00000373827:N22K	ENSP00000373827:N22K	N	+	3	2	CCDC150	197219363	0.001000	0.12720	0.139000	0.22197	0.212000	0.24457	-1.372000	0.02570	-1.452000	0.01931	-1.686000	0.00732	AAC		0.418	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		A	197511118	C	A	197511118	3	1	440	1	0	0	0	0	1	0	0	0	2787	535	19	4	72	4	CCDC150	2	197511118	Missense_Mutation	SNP	C	TCGA-BP-5191-01A-01D-1429-08	31340856	197511118	45688255	10	24053											
GLB1	2720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33114174	33114174	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr3:33114174T>C	ENST00000399402.3	-	2	148	c.17A>G	c.(16-18)tAt>tGt	p.Y6C	GLB1_ENST00000307377.8_Missense_Mutation_p.Y36C|GLB1_ENST00000307363.5_Missense_Mutation_p.Y36C|GLB1_ENST00000445488.2_Missense_Mutation_p.Y84C	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	36					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.Y36C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GTCCCGGCTATAGTCAATTTC	0.522																																																1	Substitution - Missense(1)	kidney(1)											56	59	58					3																	33114174		1928	4139	6067	SO:0001583	missense	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.17A>G	3.37:g.33114174T>C	ENSP00000382333:p.Tyr6Cys		B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.366363	0.61513	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377;ENST00000450835;ENST00000436768	D;D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76;-4.76	5.65	5.65	0.86999	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.114965	0.64402	D	0.000009	D	0.96926	0.8996	N	0.14661	0.345	0.53688	D	0.999977	D;D;D;D	0.76494	0.992;0.999;0.992;0.997	P;D;P;P	0.64042	0.764;0.921;0.764;0.804	D	0.97042	0.9758	10	0.66056	D	0.02	-12.4303	10.7364	0.46128	0.1421:0.0:0.0:0.8579	.	36;36;36;84	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	C	6;36;84;36;6;84	ENSP00000382333:Y6C;ENSP00000306920:Y36C;ENSP00000393377:Y84C;ENSP00000305920:Y36C;ENSP00000403264:Y6C;ENSP00000387989:Y84C	ENSP00000306920:Y36C	Y	-	2	0	GLB1	33089178	1.000000	0.71417	0.134000	0.22075	0.093000	0.18481	4.833000	0.62766	2.139000	0.66308	0.482000	0.46254	TAT		0.522	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		C	33114174	T	C	33114174	3	2	440	1	0	0	0	0	1	0	0	0	6429	1406	49	3	1986	3	GLB1	3	33114174	Missense_Mutation	SNP	T	TCGA-BP-5191-01A-01D-1429-08		33114174	164908256	11	24054											
PRKCD	5580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53220309	53220309	+	Missense_Mutation	SNP	G	G	A	rs150331740	byFrequency	TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr3:53220309G>A	ENST00000394729.2	+	12	1541	c.1213G>A	c.(1213-1215)Gca>Aca	p.A405T	PRKCD_ENST00000330452.3_Missense_Mutation_p.A405T	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.A405T(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GACACTTGCCGCAGAGAATCC	0.592													G|||	3	0.000599042	0.0	0.0	5008	,	,		20601	0.0		0.002	False		,,,				2504	0.001															2	Substitution - Missense(2)	kidney(2)						G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	143	117	126		1213,1213	1.4	0.9	3	dbSNP_134	126	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	PRKCD	NM_006254.3,NM_212539.1	58,58	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign	405/677,405/677	53220309	4,13002	2203	4300	6503	SO:0001583	missense	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1213G>A	3.37:g.53220309G>A	ENSP00000378217:p.Ala405Thr		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	G	8.580	0.882089	0.17467	2.27E-4	3.49E-4	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.69435	-0.4;-0.4	5.04	1.36	0.22044	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.282471	0.43416	D	0.000567	T	0.42291	0.1196	N	0.13198	0.31	0.25411	N	0.988352	B	0.09022	0.002	B	0.10450	0.005	T	0.26467	-1.0102	10	0.02654	T	1	.	12.4932	0.55912	0.0:0.0:0.4936:0.5064	.	405	Q05655	KPCD_HUMAN	T	405	ENSP00000378217:A405T;ENSP00000331602:A405T	ENSP00000331602:A405T	A	+	1	0	PRKCD	53195349	1.000000	0.71417	0.903000	0.35520	0.087000	0.18053	4.285000	0.58989	-0.006000	0.14370	0.591000	0.81541	GCA		0.592	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			A	53220309	G	A	53220309	3	1	440	1	0	0	0	0	1	0	0	0	12514	1087	38	1	1255	1	PRKCD	3	53220309	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08	20106135	53220309	144802121	12	24055											
PLXND1	23129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	129324730	129324730	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr3:129324730C>A	ENST00000324093.4	-	1	931	c.753G>T	c.(751-753)aaG>aaT	p.K251N	PLXND1_ENST00000393239.1_Missense_Mutation_p.K251N	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	251	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.K251N(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGGTGAAGAGCTTGGCCAGGT	0.647																																					Ovarian(97;366 1484 3738 22084 39045)											1	Substitution - Missense(1)	kidney(1)											43	41	42					3																	129324730		2203	4300	6503	SO:0001583	missense	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.753G>T	3.37:g.129324730C>A	ENSP00000317128:p.Lys251Asn		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	c	15.05	2.716927	0.48622	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.04406	3.63;3.63	3.56	3.56	0.40772	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.798396	0.11238	U	0.584904	T	0.06371	0.0164	L	0.41236	1.265	0.41071	D	0.985455	P	0.43094	0.799	B	0.40901	0.343	T	0.53085	-0.8488	10	0.25751	T	0.34	.	14.3818	0.66916	0.0:1.0:0.0:0.0	.	251	Q9Y4D7	PLXD1_HUMAN	N	251	ENSP00000317128:K251N;ENSP00000376931:K251N	ENSP00000317128:K251N	K	-	3	2	PLXND1	130807420	0.998000	0.40836	1.000000	0.80357	0.761000	0.43186	0.586000	0.23894	1.866000	0.54105	0.291000	0.19559	AAG		0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		A	129324730	C	A	129324730	3	1	440	1	0	0	0	0	1	0	0	0	12129	796	28	4	5168	4	PLXND1	3	129324730	Missense_Mutation	SNP	C	TCGA-BP-5191-01A-01D-1429-08	76104421	129324730	68697700	13	24056											
DGKQ	1609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	954842	954842	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr4:954842G>C	ENST00000273814.3	-	22	2795	c.2722C>G	c.(2722-2724)Cct>Gct	p.P908A	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	908					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)	p.P908A(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CATACCTTAGGGCCAGCAGCT	0.687																																					Esophageal Squamous(17;537 645 4447 26373)											1	Substitution - Missense(1)	kidney(1)											33	38	36					4																	954842		2202	4297	6499	SO:0001583	missense	1609			L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2722C>G	4.37:g.954842G>C	ENSP00000273814:p.Pro908Ala		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	G	9.375	1.071471	0.20147	.	.	ENSG00000145214	ENST00000273814;ENST00000515182	T;T	0.39592	1.07;1.07	5.31	3.6	0.41247	.	0.099034	0.64402	D	0.000001	T	0.51805	0.1696	L	0.39898	1.24	0.47123	D	0.999328	D;P	0.89917	1.0;0.929	D;P	0.87578	0.998;0.703	T	0.47861	-0.9084	10	0.54805	T	0.06	.	9.6907	0.40127	0.1704:0.0:0.8296:0.0	.	908;908	E9KL49;P52824	.;DGKQ_HUMAN	A	908;123	ENSP00000273814:P908A;ENSP00000421756:P123A	ENSP00000273814:P908A	P	-	1	0	DGKQ	944842	1.000000	0.71417	0.003000	0.11579	0.116000	0.19942	5.539000	0.67199	0.634000	0.30469	-0.215000	0.12644	CCT		0.687	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			C	954842	G	C	954842	3	2	440	1	0	0	0	0	1	0	0	0	4475	1232	43	4	114	4	DGKQ	4	954842	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08		954842	190199434	14	24057											
CTBP1	1487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1206792	1206792	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr4:1206792A>C	ENST00000290921.6	-	8	1229	c.1048T>G	c.(1048-1050)Tgt>Ggt	p.C350G	CTBP1_ENST00000382952.3_Missense_Mutation_p.C339G	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	350	Interaction with GLIS2 2. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.C350G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TTGTTGACACAGTTCTTCAGG	0.637																																																1	Substitution - Missense(1)	kidney(1)											101	96	98					4																	1206792		2203	4300	6503	SO:0001583	missense	1487			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1048T>G	4.37:g.1206792A>C	ENSP00000290921:p.Cys350Gly		Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	CCDS3348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.0|26.0	4.690475|4.690475	0.88735|0.88735	.|.	.|.	ENSG00000159692|ENSG00000159692	ENST00000382952;ENST00000290921|ENST00000503594;ENST00000504092	D;D|.	0.83914|.	-1.78;-1.78|.	4.57|4.57	4.57|4.57	0.56435|0.56435	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75339|0.75339	0.3836|0.3836	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.96;0.999;0.999|.	D;D;D|.	0.77004|.	0.943;0.989;0.989|.	T|T	0.77395|0.77395	-0.2604|-0.2604	10|5	0.87932|.	D|.	0|.	-12.1992|-12.1992	13.9373|13.9373	0.64032|0.64032	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	136;350;339|.	Q6IP95;Q13363;Q7Z2Q5|.	.;CTBP1_HUMAN;.|.	G|R	339;350|92;196	ENSP00000372411:C339G;ENSP00000290921:C350G|.	ENSP00000290921:C350G|.	C|L	-|-	1|2	0|0	CTBP1|CTBP1	1196792|1196792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	8.469000|8.469000	0.90395|0.90395	1.693000|1.693000	0.51124|0.51124	0.459000|0.459000	0.35465|0.35465	TGT|CTG		0.637	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		C	1206792	A	C	1206792	3	2	440	1	0	0	0	0	1	0	0	0	3999	188	7	5	282	5	CTBP1	4	1206792	Missense_Mutation	SNP	A	TCGA-BP-5191-01A-01D-1429-08	251950	1206792	189947484	15	24058											
DNAH5	1767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	13753411	13753411	+	Silent	SNP	A	A	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr5:13753411A>T	ENST00000265104.4	-	63	10907	c.10803T>A	c.(10801-10803)ccT>ccA	p.P3601P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3601	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P3601P(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAATTAACAAAGGGTAACGAG	0.378									Kartagener syndrome																																							1	Substitution - coding silent(1)	kidney(1)											107	98	101					5																	13753411		2203	4300	6503	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10803T>A	5.37:g.13753411A>T			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		T	13753411	A	T	13753411	2	4	440	1	0	0	0	0	0	0	0	1	4606	59	3	5		5	DNAH5	5	13753411	Silent	SNP	A	TCGA-BP-5191-01A-01D-1429-08		13753411	167161849	16	24059											
EGFLAM	133584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	38427321	38427321	+	Missense_Mutation	SNP	G	G	A	rs144065923	byFrequency	TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr5:38427321G>A	ENST00000354891.3	+	14	2367	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	EGFLAM_ENST00000397202.2_Missense_Mutation_p.R40H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R440H|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R674H	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	674	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R674H(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTGGAGTTCCGCTTTGACTGT	0.512													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19950	0.0		0.0	False		,,,				2504	0.0				Colon(62;485 1295 3347 17454)											2	Substitution - Missense(2)	kidney(2)						G	HIS/ARG,HIS/ARG,HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	147	151	150		2021,2021,1319	4.9	1	5	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2	29,29,29	0,11,6492	AA,AG,GG		0.0116,0.227,0.0846	probably-damaging,probably-damaging,probably-damaging	674/1018,674/1010,440/776	38427321	11,12995	2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2021G>A	5.37:g.38427321G>A	ENSP00000346964:p.Arg674His		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	29.9	5.045862	0.93685	0.00227	1.16E-4	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.76	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.972	D;D;P	0.87578	0.996;0.998;0.755	D	0.91539	0.5248	10	0.62326	D	0.03	-0.6375	14.639	0.68708	0.0696:0.0:0.9304:0.0	.	440;674;674	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	H	674;674;440;40;440	ENSP00000346964:R674H;ENSP00000313084:R674H;ENSP00000337607:R440H;ENSP00000380385:R40H	ENSP00000313084:R674H	R	+	2	0	EGFLAM	38463078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.395000	0.97266	1.448000	0.47680	0.655000	0.94253	CGC		0.512	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		A	38427321	G	A	38427321	3	1	440	1	0	0	0	0	1	0	0	0	4968	1087	38	1	2089	1	EGFLAM	5	38427321	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08	24673910	38427321	142487939	17	24060											
TRPC7	57113	broad.mit.edu	37	5	135561876	135561879	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	CTTC	CTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr5:135561876_135561879delCTTC	ENST00000513104.1	-	9	2387_2390	c.2105_2108delGAAG	c.(2104-2109)ggaagafs	p.GR702fs	TRPC7_ENST00000426057.2_Frame_Shift_Del_p.GR586fs|TRPC7_ENST00000355180.3_Frame_Shift_Del_p.GR641fs	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	702					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTAGAGTTCTTCCTTCATCAAA	0.412																																																0																																										SO:0001589	frameshift_variant	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2105_2108delGAAG	5.37:g.135561880_135561883delCTTC	ENSP00000426070:p.Gly702fs		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Frame_Shift_Del	DEL	ENST00000513104.1	37	CCDS47267.2																																																																																				0.412	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		-	135561879	CTTC	-	135561876	7	5	440	1	0	1	0	1	0	0	0	0	16589	913	32	0	496	0	TRPC7	5	135561876	Frame_Shift_Del	DEL	CTTC	TCGA-BP-5191-01A-01D-1429-08	97134555	135561876	45353384	18	24061											
SLC35B2	347734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44222678	44222678	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr6:44222678A>G	ENST00000393812.3	-	4	1207	c.1064T>C	c.(1063-1065)aTc>aCc	p.I355T	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.I262T|SLC35B2_ENST00000393810.1_3'UTR|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Missense_Mutation_p.I222T	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	355					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)	p.I355T(1)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGTGTAAAAGATGAAGAGCTG	0.582																																																1	Substitution - Missense(1)	kidney(1)											60	52	55					6																	44222678		2203	4300	6503	SO:0001583	missense	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1064T>C	6.37:g.44222678A>G	ENSP00000377401:p.Ile355Thr		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	a	21.8	4.196517	0.79015	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.40476	1.03;1.03;1.03	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.81607	-0.0856	10	0.87932	D	0	-30.6983	14.7533	0.69543	1.0:0.0:0.0:0.0	.	262;355	F5H7Y9;Q8TB61	.;S35B2_HUMAN	T	355;222;262;315	ENSP00000377401:I355T;ENSP00000440340:I222T;ENSP00000443845:I262T	ENSP00000342455:I315T	I	-	2	0	SLC35B2	44330656	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.278000	0.95766	1.894000	0.54839	0.441000	0.28932	ATC		0.582	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			G	44222678	A	G	44222678	3	3	440	1	0	0	0	0	1	0	0	0	14582	333	12	3	238	3	SLC35B2	6	44222678	Missense_Mutation	SNP	A	TCGA-BP-5191-01A-01D-1429-08		44222678	126892389	19	24062											
C6orf70	55780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	170162545	170162545	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr6:170162545T>A	ENST00000366773.3	+	9	911	c.878T>A	c.(877-879)tTg>tAg	p.L293*	ERMARD_ENST00000392095.4_Nonsense_Mutation_p.L167*|ERMARD_ENST00000366772.2_Nonsense_Mutation_p.L293*|ERMARD_ENST00000418781.3_Nonsense_Mutation_p.L293*|ERMARD_ENST00000588451.1_Nonsense_Mutation_p.L167*	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	293					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L293*(1)									TGCGCCATATTGTTGCTGACA	0.408																																																1	Substitution - Nonsense(1)	kidney(1)											139	134	136					6																	170162545		2203	4300	6503	SO:0001587	stop_gained	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.878T>A	6.37:g.170162545T>A	ENSP00000355735:p.Leu293*		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Nonsense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	T	37	6.192212	0.97362	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	.	.	.	5.07	5.07	0.68467	.	0.000000	0.38436	N	0.001681	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8227	0.63333	0.0:0.0:0.0:1.0	.	.	.	.	X	293;293;293;167	.	ENSP00000355734:L293X	L	+	2	0	C6orf70	169904470	0.987000	0.35691	0.066000	0.19879	0.608000	0.37181	4.766000	0.62279	1.905000	0.55150	0.528000	0.53228	TTG		0.408	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		A	170162545	T	A	170162545	4	1	440	1	0	0	0	0	0	1	0	0	2372	1821	63	5	912	5	C6orf70	6	170162545	Nonsense_Mutation	SNP	T	TCGA-BP-5191-01A-01D-1429-08	125939867	170162545	952522	20	24063											
CCDC146	57639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	76912017	76912017	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr7:76912017A>T	ENST00000285871.4	+	15	2190	c.2063A>T	c.(2062-2064)gAg>gTg	p.E688V	CCDC146_ENST00000431197.1_Missense_Mutation_p.E402V|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	688								p.E688V(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAGATTGCTGAGAAGCAAAGA	0.393																																																1	Substitution - Missense(1)	kidney(1)											70	68	68					7																	76912017		2203	4300	6503	SO:0001583	missense	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2063A>T	7.37:g.76912017A>T	ENSP00000285871:p.Glu688Val		A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981112	0.74474	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.43294	0.95;0.95	5.24	5.24	0.73138	.	0.048131	0.85682	D	0.000000	T	0.67097	0.2857	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.72354	-0.4319	10	0.62326	D	0.03	-21.6797	15.1123	0.72368	1.0:0.0:0.0:0.0	.	402;688	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	V	688;402	ENSP00000285871:E688V;ENSP00000413885:E402V	ENSP00000285871:E688V	E	+	2	0	AC007000.1	76749953	1.000000	0.71417	0.994000	0.49952	0.891000	0.51852	6.701000	0.74624	2.108000	0.64289	0.533000	0.62120	GAG		0.393	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		T	76912017	A	T	76912017	3	4	440	1	0	0	0	0	1	0	0	0	2782	304	11	5	2117	5	CCDC146	7	76912017	Missense_Mutation	SNP	A	TCGA-BP-5191-01A-01D-1429-08		76912017	82226646	21	24064											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82595361	82595361	+	Missense_Mutation	SNP	A	A	G	rs61995907	byFrequency	TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr7:82595361A>G	ENST00000333891.9	-	4	4080	c.3743T>C	c.(3742-3744)cTa>cCa	p.L1248P	PCLO_ENST00000423517.2_Missense_Mutation_p.L1248P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L1248P(2)|p.L1187P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCTGGGAGTAGCTTTTTGTC	0.393													A|||	2	0.000399361	0.0015	0.0	5008	,	,		18131	0.0		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	kidney(3)						A	PRO/LEU,PRO/LEU	11,3649		0,11,1819	252	247	248		3743,3743	3	0	7	dbSNP_129	248	0,8154		0,0,4077	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	98,98	0,11,5896	GG,GA,AA		0.0,0.3005,0.0931	possibly-damaging,possibly-damaging	1248/4936,1248/5143	82595361	11,11803	1830	4077	5907	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3743T>C	7.37:g.82595361A>G	ENSP00000334319:p.Leu1248Pro			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	10.97	1.502066	0.26949	0.003005	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18960	2.18;2.22	5.39	3.03	0.35002	.	.	.	.	.	T	0.16896	0.0406	L	0.29908	0.895	0.09310	N	0.999993	P;P	0.47677	0.899;0.899	P;P	0.44990	0.466;0.466	T	0.11991	-1.0565	9	0.87932	D	0	.	4.8935	0.13738	0.7179:0.0:0.1457:0.1364	.	1248;1248	Q9Y6V0-5;Q9Y6V0-6	.;.	P	1187;1248;1248	ENSP00000334319:L1248P;ENSP00000388393:L1248P	ENSP00000334319:L1248P	L	-	2	0	PCLO	82433297	0.001000	0.12720	0.000000	0.03702	0.390000	0.30446	1.246000	0.32803	0.489000	0.27749	0.533000	0.62120	CTA		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82595361	A	G	82595361	3	3	440	1	0	0	0	0	1	0	0	0	11585	420	15	3	11790	3	PCLO	7	82595361	Missense_Mutation	SNP	A	TCGA-BP-5191-01A-01D-1429-08	5683344	82595361	76543302	22	24065											
AKAP9	10142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91712684	91712684	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr7:91712684G>T	ENST00000359028.2	+	34	8622	c.8397G>T	c.(8395-8397)aaG>aaT	p.K2799N	AKAP9_ENST00000356239.3_Missense_Mutation_p.K2787N|AKAP9_ENST00000358100.2_Missense_Mutation_p.K2799N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2799					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.K2799N(1)|p.K2787N(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGACTCTGAAGATCAGTAGCA	0.383			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	kidney(2)											81	79	80					7																	91712684		2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8397G>T	7.37:g.91712684G>T	ENSP00000351922:p.Lys2799Asn		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	2.104	-0.405317	0.04832	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.8	-0.24	0.13047	.	0.379769	0.19101	N	0.122715	T	0.30166	0.0756	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.16802	0.019;0.01;0.003;0.006;0.006	B;B;B;B;B	0.15052	0.012;0.003;0.001;0.003;0.003	T	0.12192	-1.0557	10	0.31617	T	0.26	.	5.0863	0.14684	0.4705:0.0:0.3087:0.2208	.	2791;2791;2799;2787;2779	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	N	2787;2799;2799;2791;633	ENSP00000348573:K2787N;ENSP00000351922:K2799N;ENSP00000350813:K2799N;ENSP00000378042:K633N	ENSP00000348573:K2787N	K	+	3	2	AKAP9	91550620	0.000000	0.05858	0.002000	0.10522	0.283000	0.27025	-0.460000	0.06720	0.005000	0.14708	0.591000	0.81541	AAG		0.383	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91712684	G	T	91712684	3	4	440	1	0	0	0	0	1	0	0	0	459	933	33	4	8491	4	AKAP9	7	91712684	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08	9117323	91712684	67425979	23	24066											
DECR1	1666	broad.mit.edu;hgsc.bcm.edu	37	8	91013753	91013753	+	Silent	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr8:91013753G>A	ENST00000220764.2	+	1	121	c.33G>A	c.(31-33)ctG>ctA	p.L11L	DECR1_ENST00000522161.1_5'UTR|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	11					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.L11L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCTTTACTCTGGGGTCCCGGC	0.677											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											24	26	26					8																	91013753		2203	4300	6503	SO:0001819	synonymous_variant	1666			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.33G>A	8.37:g.91013753G>A		1279	B7Z6B8|Q2M304|Q93085	Silent	SNP	ENST00000220764.2	37	CCDS6250.1																																																																																				0.677	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			A	91013753	G	A	91013753	2	1	440	1	0	0	0	0	0	0	0	1	4384	1335	47	2		2	DECR1	8	91013753	Silent	SNP	G	TCGA-BP-5191-01A-01D-1429-08		91013753	55350269	24	24067											
TRPM6	140803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	77442693	77442693	+	Splice_Site	SNP	C	C	T	rs371363425		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr9:77442693C>T	ENST00000360774.1	-	7	1079		c.e7+1		TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000451710.3_Splice_Site|TRPM6_ENST00000376871.3_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000359047.2_Missense_Mutation_p.R281H|TRPM6_ENST00000376872.3_Splice_Site|TRPM6_ENST00000483186.1_Splice_Site	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTGATACTCACGGCAGTGTAT	0.517																																																1	Unknown(1)	kidney(1)						C	,,	0,4406		0,0,2203	99	92	94		,,	5.2	1	9		94	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,splice-5,splice-5	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,,	77442693	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.841+1G>A	9.37:g.77442693C>T			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Splice_Site	SNP	ENST00000360774.1	37	CCDS6647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.444091|3.444091	0.63067|0.63067	0.0|0.0	1.16E-4|1.16E-4	ENSG00000119121|ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864|ENST00000359047	.|T	.|0.66995	.|-0.24	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|.	.|.	.|.	.|.	.|D	.|0.82949	.|0.5148	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.71184	.|0.972	.|D	.|0.85287	.|0.1065	.|8	.|0.87932	.|D	.|0	.|.	19.0726|19.0726	0.93145|0.93145	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|281	.|Q96LV9	.|.	.|H	-1|281	.|ENSP00000351942:R281H	.|ENSP00000351942:R281H	.|R	-|-	.|2	.|0	TRPM6|TRPM6	76632513|76632513	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.533000|0.533000	0.34776|0.34776	7.523000|7.523000	0.81856|0.81856	2.580000|2.580000	0.87095|0.87095	0.591000|0.591000	0.81541|0.81541	.|CGT		0.517	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	Intron	T	77442693	C	T	77442693	5	4	440	1	0	0	0	0	0	0	1	0	16595	550	19	1	5358	1	TRPM6	9	77442693	Splice_Site	SNP	C	TCGA-BP-5191-01A-01D-1429-08		77442693	63770738	25	24068											
FAM22G	441457	broad.mit.edu;hgsc.bcm.edu	37	9	99700276	99700276	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr9:99700276T>A	ENST00000372322.3	+	6	1454	c.1433T>A	c.(1432-1434)cTt>cAt	p.L478H	NUTM2G_ENST00000354649.3_Missense_Mutation_p.L478H|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	478								p.L478H(2)									GGACTCACCCTTGCCCAGGTA	0.607																																																2	Substitution - Missense(2)	kidney(2)											109	114	112					9																	99700276		1963	4131	6094	SO:0001583	missense	441457				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1433T>A	9.37:g.99700276T>A	ENSP00000361397:p.Leu478His		A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	11.53	1.665420	0.29604	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159;ENST00000375230	T;T	0.26810	1.71;2.5	1.01	-1.03	0.10102	.	1.370540	0.04987	N	0.466609	T	0.40222	0.1108	M	0.66939	2.045	0.09310	N	1	D	0.56287	0.975	P	0.58331	0.837	T	0.27434	-1.0074	10	0.72032	D	0.01	.	3.6684	0.08265	0.0:0.5622:0.0:0.4378	.	478	Q5VZR2-2	.	H	478;478;327;359	ENSP00000346670:L478H;ENSP00000361397:L478H	ENSP00000346670:L478H	L	+	2	0	FAM22G	98740097	0.003000	0.15002	0.003000	0.11579	0.136000	0.21042	0.179000	0.16840	-0.290000	0.09025	0.388000	0.25769	CTT		0.607	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		A	99700276	T	A	99700276	3	1	440	1	0	0	0	0	1	0	0	0	5548	1609	56	5	1455	5	FAM22G	9	99700276	Missense_Mutation	SNP	T	TCGA-BP-5191-01A-01D-1429-08	22257583	99700276	41513155	26	24069											
PHYHIPL	84457	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	60994152	60994152	+	Silent	SNP	A	A	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr10:60994152A>C	ENST00000373880.4	+	2	459	c.195A>C	c.(193-195)tcA>tcC	p.S65S	PHYHIPL_ENST00000373878.3_Silent_p.S39S	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	65	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.S65S(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CGTGTGACTCATTCAAGATTT	0.353																																																1	Substitution - coding silent(1)	kidney(1)											117	104	108					10																	60994152		2203	4300	6503	SO:0001819	synonymous_variant	84457			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.195A>C	10.37:g.60994152A>C			B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Silent	SNP	ENST00000373880.4	37	CCDS7254.1																																																																																				0.353	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		C	60994152	A	C	60994152	2	2	440	1	0	0	0	0	0	0	0	1	11869	204	8	5		5	PHYHIPL	10	60994152	Silent	SNP	A	TCGA-BP-5191-01A-01D-1429-08		60994152	74540595	27	24070											
KIF11	3832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	94397051	94397051	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr10:94397051G>C	ENST00000260731.3	+	15	2076	c.1986G>C	c.(1984-1986)ttG>ttC	p.L662F		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	662					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.L662F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACTTCATTGACAGTGGCCG	0.323																																					Colon(47;212 1003 2764 4062 8431)											1	Substitution - Missense(1)	kidney(1)											100	102	101					10																	94397051		2203	4298	6501	SO:0001583	missense	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1986G>C	10.37:g.94397051G>C	ENSP00000260731:p.Leu662Phe		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	7.707	0.694376	0.15039	.	.	ENSG00000138160	ENST00000260731	T	0.64803	-0.12	4.82	4.82	0.62117	.	0.839178	0.10488	N	0.668707	T	0.45856	0.1363	N	0.24115	0.695	0.09310	N	1	P	0.35923	0.528	B	0.35413	0.202	T	0.23655	-1.0182	10	0.25751	T	0.34	.	7.7885	0.29106	0.1815:0.0:0.8185:0.0	.	662	P52732	KIF11_HUMAN	F	662	ENSP00000260731:L662F	ENSP00000260731:L662F	L	+	3	2	KIF11	94387031	0.274000	0.24191	0.868000	0.34077	0.195000	0.23768	1.398000	0.34554	2.381000	0.81170	0.655000	0.94253	TTG		0.323	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		C	94397051	G	C	94397051	3	2	440	1	0	0	0	0	1	0	0	0	8274	1281	45	4	2044	4	KIF11	10	94397051	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08	33402899	94397051	41137696	28	24071											
ANKRD2	26287	broad.mit.edu;hgsc.bcm.edu	37	10	99343409	99343409	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr10:99343409G>C	ENST00000307518.5	+	9	1277	c.1010G>C	c.(1009-1011)gGg>gCg	p.G337A	PI4K2A_ENST00000370649.3_5'Flank|HOGA1_ENST00000370647.4_5'Flank|HOGA1_ENST00000370646.4_5'Flank|ANKRD2_ENST00000370655.1_Missense_Mutation_p.G310A|PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000455090.1_Missense_Mutation_p.G277A|ANKRD2_ENST00000298808.5_Missense_Mutation_p.G304A			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	337					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)	p.G337A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CCTGAGCCGGGGGCTGAGCAT	0.687																																																1	Substitution - Missense(1)	kidney(1)											21	19	20					10																	99343409		2199	4299	6498	SO:0001583	missense	26287			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"Ankyrin repeat domain containing"	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.1010G>C	10.37:g.99343409G>C	ENSP00000306163:p.Gly337Ala		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	ENST00000307518.5	37	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.316830	0.01331	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.50548	1.01;0.76;0.96;0.74	5.6	-3.98	0.04082	.	0.590250	0.16521	N	0.210814	T	0.19565	0.0470	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.14172	-1.0482	10	0.23891	T	0.37	-8.0773	6.7098	0.23270	0.5027:0.2246:0.2727:0.0	.	304;337	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	A	337;304;310;277	ENSP00000306163:G337A;ENSP00000298808:G304A;ENSP00000359689:G310A;ENSP00000403114:G277A	ENSP00000298808:G304A	G	+	2	0	ANKRD2	99333399	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.217000	0.09253	-0.624000	0.05611	-1.080000	0.02220	GGG		0.687	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	99343409	G	C	99343409	3	2	440	1	0	0	0	0	1	0	0	0	647	1232	43	4	1044	4	ANKRD2	10	99343409	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08	4946358	99343409	36191338	29	24072											
TACC2	10579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	123845033	123845033	+	Silent	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr10:123845033G>A	ENST00000369005.1	+	4	3358	c.3018G>A	c.(3016-3018)caG>caA	p.Q1006Q	TACC2_ENST00000515273.1_Silent_p.Q1006Q|TACC2_ENST00000515603.1_Silent_p.Q1006Q|TACC2_ENST00000334433.3_Silent_p.Q1006Q|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.Q1006Q|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1006					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.Q1006Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGGCAGCCAGCATGAAGAAG	0.527																																																1	Substitution - coding silent(1)	kidney(1)											35	37	36					10																	123845033		2203	4300	6503	SO:0001819	synonymous_variant	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3018G>A	10.37:g.123845033G>A			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	CCDS7626.1																																																																																				0.527	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			A	123845033	G	A	123845033	2	1	440	1	0	0	0	0	0	0	0	1	15507	962	34	2		2	TACC2	10	123845033	Silent	SNP	G	TCGA-BP-5191-01A-01D-1429-08	24501624	123845033	11689714	30	24073											
NLRP6	171389	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	281628	281628	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr11:281628G>A	ENST00000312165.5	+	4	1894	c.1894G>A	c.(1894-1896)Gcg>Acg	p.A632T	NLRP6_ENST00000534750.1_Missense_Mutation_p.A632T	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	632					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)	p.A632T(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCAGGAGGACGCGTTTGTGCG	0.642																																																1	Substitution - Missense(1)	kidney(1)											97	108	104					11																	281628		2203	4300	6503	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1894G>A	11.37:g.281628G>A	ENSP00000309767:p.Ala632Thr		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648589	0.29336	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.53423	0.62;0.62	2.93	0.864	0.19068	.	0.443212	0.16795	N	0.199204	T	0.30665	0.0772	L	0.41236	1.265	0.09310	N	1	P;D	0.54964	0.924;0.969	B;B	0.43251	0.147;0.413	T	0.18272	-1.0342	10	0.13470	T	0.59	.	3.8821	0.09082	0.148:0.2535:0.5985:0.0	.	632;632	E9PJZ8;P59044	.;NALP6_HUMAN	T	632	ENSP00000433617:A632T;ENSP00000309767:A632T	ENSP00000309767:A632T	A	+	1	0	NLRP6	271628	0.000000	0.05858	0.000000	0.03702	0.862000	0.49288	0.688000	0.25422	0.231000	0.21079	0.462000	0.41574	GCG		0.642	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		A	281628	G	A	281628	3	1	440	1	0	0	0	0	1	0	0	0	10483	1087	38	1	1908	1	NLRP6	11	281628	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08		281628	134724888	31	24074											
INCENP	3619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61897770	61897770	+	Silent	SNP	C	C	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr11:61897770C>A	ENST00000394818.3	+	4	973	c.771C>A	c.(769-771)ctC>ctA	p.L257L	INCENP_ENST00000278849.4_Silent_p.L257L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	257					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)		p.L257L(2)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGTCTAAGCTCAGGATTGCGC	0.637																																																2	Substitution - coding silent(2)	kidney(2)											64	63	63					11																	61897770		2202	4299	6501	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.771C>A	11.37:g.61897770C>A			A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	CCDS44624.1																																																																																				0.637	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		A	61897770	C	A	61897770	2	1	440	1	0	0	0	0	0	0	0	1	7735	813	29	4		4	INCENP	11	61897770	Silent	SNP	C	TCGA-BP-5191-01A-01D-1429-08	61616142	61897770	73108746	32	24075											
MTMR2	8898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	95581057	95581057	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr11:95581057C>G	ENST00000346299.5	-	10	1340	c.1000G>C	c.(1000-1002)Ggt>Cgt	p.G334R	MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000409459.1_Missense_Mutation_p.G262R|MTMR2_ENST00000393223.3_Missense_Mutation_p.G262R|MTMR2_ENST00000352297.7_Missense_Mutation_p.G262R	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	334	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G334R(1)|p.G262R(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAACCTCCACCCTTTGCCTGG	0.328																																																2	Substitution - Missense(2)	kidney(2)											97	92	94					11																	95581057		2201	4298	6499	SO:0001583	missense	8898			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1000G>C	11.37:g.95581057C>G	ENSP00000345752:p.Gly334Arg		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699445	0.88830	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.48	5.48	0.80851	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	H	0.98238	4.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99160	1.0861	10	0.87932	D	0	.	19.3474	0.94370	0.0:1.0:0.0:0.0	.	334;334	A8K5G2;Q13614	.;MTMR2_HUMAN	R	334;262;262;262;262;317	ENSP00000345752:G334R;ENSP00000376915:G262R;ENSP00000386882:G262R;ENSP00000343737:G262R;ENSP00000396020:G262R	ENSP00000345752:G334R	G	-	1	0	MTMR2	95220705	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	7.755000	0.85180	2.575000	0.86900	0.655000	0.94253	GGT		0.328	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		G	95581057	C	G	95581057	3	3	440	1	0	0	0	0	1	0	0	0	9946	623	22	4	955	4	MTMR2	11	95581057	Missense_Mutation	SNP	C	TCGA-BP-5191-01A-01D-1429-08	33683287	95581057	39425459	33	24076											
IL23A	51561	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56733621	56733621	+	Splice_Site	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr12:56733621G>T	ENST00000228534.4	+	3	574	c.408G>T	c.(406-408)caG>caT	p.Q136H	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	136					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)		p.Q136H(1)		kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						AACTCCTGCAGGTATGAAGTA	0.562																																																1	Substitution - Missense(1)	kidney(1)											57	62	60					12																	56733621		2203	4300	6503	SO:0001630	splice_region_variant	51561			AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"Interleukins and interleukin receptors"	15488	protein-coding gene	gene with protein product	"interleukin-six, G-CSF related factor"	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.408+1G>T	12.37:g.56733621G>T			Q6NZ80|Q6NZ82|Q9H2A5	Missense_Mutation	SNP	ENST00000228534.4	37	CCDS8916.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122229	0.56613	.	.	ENSG00000110944	ENST00000228534	T	0.18810	2.19	5.54	5.54	0.83059	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.224841	0.31507	N	0.007530	T	0.26448	0.0646	L	0.36672	1.1	0.80722	D	1	P	0.42584	0.784	P	0.47346	0.544	T	0.00790	-1.1565	10	0.87932	D	0	-2.9197	15.3495	0.74370	0.0:0.0:1.0:0.0	.	136	Q9NPF7	IL23A_HUMAN	H	136	ENSP00000228534:Q136H	ENSP00000228534:Q136H	Q	+	3	2	IL23A	55019888	1.000000	0.71417	0.997000	0.53966	0.527000	0.34593	4.694000	0.61760	2.779000	0.95612	0.563000	0.77884	CAG		0.562	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_016584	Missense_Mutation	T	56733621	G	T	56733621	5	4	440	1	0	0	0	0	0	0	1	0	7677	1014	35	4	418	4	IL23A	12	56733621	Splice_Site	SNP	G	TCGA-BP-5191-01A-01D-1429-08		56733621	77118274	34	24077											
LRP1	4035	hgsc.bcm.edu;ucsc.edu	37	12	57550598	57550598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr12:57550598delC	ENST00000243077.3	+	10	1922	c.1456delC	c.(1456-1458)ccgfs	p.P486fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	486	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTATGGGAAGCCGGGTGGCTG	0.637																																																0													43	39	40					12																	57550598		2203	4300	6503	SO:0001589	frameshift_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1456delC	12.37:g.57550598delC	ENSP00000243077:p.Pro486fs		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	ENST00000243077.3	37	CCDS8932.1																																																																																				0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		-	57550598	C	-	57550598	7	5	440	1	0	1	0	1	0	0	0	0	8953	739	26	0	1494	0	LRP1	12	57550598	Frame_Shift_Del	DEL	C	TCGA-BP-5191-01A-01D-1429-08	816977	57550598	76301297	35	24078											
C12orf34	84915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	110205829	110205829	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr12:110205829C>T	ENST00000538780.1	+	3	811	c.95C>T	c.(94-96)gCc>gTc	p.A32V	FAM222A_ENST00000358906.3_Missense_Mutation_p.A32V|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	32								p.A32V(1)									GAGGCGGTGGCCAGCGCCATG	0.657																																																1	Substitution - Missense(1)	kidney(1)											54	50	51					12																	110205829		2203	4300	6503	SO:0001583	missense	0			AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 34"	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.95C>T	12.37:g.110205829C>T	ENSP00000443292:p.Ala32Val		Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	CCDS9133.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689165	0.29962	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.30981	1.51;1.51	2.3	2.3	0.28687	.	0.317591	0.28268	N	0.015970	T	0.28267	0.0698	L	0.51422	1.61	0.40350	D	0.979127	B	0.22851	0.076	B	0.26310	0.068	T	0.24012	-1.0172	10	0.42905	T	0.14	-7.9663	12.1753	0.54182	0.0:1.0:0.0:0.0	.	32	Q5U5X8	CL034_HUMAN	V	32	ENSP00000443292:A32V;ENSP00000351783:A32V	ENSP00000351783:A32V	A	+	2	0	C12orf34	108690212	0.646000	0.27295	0.972000	0.41901	0.745000	0.42441	1.795000	0.38784	1.591000	0.50007	0.305000	0.20034	GCC		0.657	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		T	110205829	C	T	110205829	3	4	440	1	0	0	0	0	1	0	0	0	1683	739	26	2	101	2	C12orf34	12	110205829	Missense_Mutation	SNP	C	TCGA-BP-5191-01A-01D-1429-08	52655231	110205829	23646066	36	24079											
FAM179B	23116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45468576	45468576	+	Silent	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:45468576G>A	ENST00000361577.3	+	3	2428	c.2214G>A	c.(2212-2214)ggG>ggA	p.G738G	FAM179B_ENST00000361462.2_Silent_p.G738G|FAM179B_ENST00000382233.2_Silent_p.G738G|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	738								p.G738G(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GTACTACTGGGACTCATCAAA	0.333																																																1	Substitution - coding silent(1)	kidney(1)											99	101	101					14																	45468576		2203	4300	6503	SO:0001819	synonymous_variant	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2214G>A	14.37:g.45468576G>A			Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	3.092	-0.186746	0.06340	.	.	ENSG00000198718	ENST00000557250	.	.	.	5.19	-3.63	0.04529	.	0.877808	0.09838	N	0.749210	T	0.18383	0.0441	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24297	-1.0164	5	.	.	.	-1.9286	2.3876	0.04370	0.5064:0.1068:0.1702:0.2165	.	.	.	.	E	32	.	.	G	+	2	0	FAM179B	44538326	0.627000	0.27129	0.473000	0.27253	0.638000	0.38207	-0.299000	0.08254	-0.893000	0.03930	0.467000	0.42956	GGA		0.333	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		A	45468576	G	A	45468576	2	1	440	1	0	0	0	0	0	0	0	1	5508	1161	41	2		2	FAM179B	14	45468576	Silent	SNP	G	TCGA-BP-5191-01A-01D-1429-08		45468576	61880964	37	24080											
PRPF39	55015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45571777	45571777	+	Silent	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:45571777T>C	ENST00000355765.6	+	5	785	c.615T>C	c.(613-615)tcT>tcC	p.S205S		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	205					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.S205S(1)|p.S84S(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATTTCCGTTCTGACAGACTGT	0.353																																																2	Substitution - coding silent(2)	kidney(2)											98	101	100					14																	45571777		2203	4300	6503	SO:0001819	synonymous_variant	55015			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.615T>C	14.37:g.45571777T>C			Q08AL1|Q08AL2|Q9NUU5	Silent	SNP	ENST00000355765.6	37	CCDS9682.2																																																																																				0.353	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			C	45571777	T	C	45571777	2	2	440	1	0	0	0	0	0	0	0	1	12574	1567	55	3		3	PRPF39	14	45571777	Silent	SNP	T	TCGA-BP-5191-01A-01D-1429-08	103201	45571777	61777763	38	24081											
SPTB	6710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	65253682	65253682	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:65253682C>G	ENST00000389721.5	-	15	3033	c.3001G>C	c.(3001-3003)Gag>Cag	p.E1001Q	SPTB_ENST00000389722.3_Missense_Mutation_p.E1001Q|SPTB_ENST00000556626.1_Missense_Mutation_p.E1001Q|SPTB_ENST00000389720.3_Missense_Mutation_p.E1001Q|SPTB_ENST00000542895.1_Missense_Mutation_p.E1001Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1001					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.E1001Q(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACGTCACGCTCCAGCCCTGAC	0.597																																																1	Substitution - Missense(1)	kidney(1)											92	83	86					14																	65253682		2203	4300	6503	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3001G>C	14.37:g.65253682C>G	ENSP00000374371:p.Glu1001Gln		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288399	0.80803	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	4.89	3.98	0.46160	.	0.141328	0.52532	D	0.000080	T	0.72350	0.3449	M	0.84683	2.71	0.49798	D	0.999824	D;D	0.76494	0.999;0.971	D;P	0.77557	0.99;0.855	T	0.75204	-0.3400	10	0.51188	T	0.08	.	11.8752	0.52544	0.0:0.9121:0.0:0.0879	.	1001;1005	P11277;Q59FP5	SPTB1_HUMAN;.	Q	1005;1001;1001;1001;1001;1001	ENSP00000374372:E1001Q;ENSP00000451752:E1001Q;ENSP00000374371:E1001Q;ENSP00000443882:E1001Q;ENSP00000374370:E1001Q	ENSP00000374370:E1001Q	E	-	1	0	SPTB	64323435	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.072000	0.71238	2.430000	0.82344	0.549000	0.68633	GAG		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			G	65253682	C	G	65253682	3	3	440	1	0	0	0	0	1	0	0	0	15123	864	30	4	4138	4	SPTB	14	65253682	Missense_Mutation	SNP	C	TCGA-BP-5191-01A-01D-1429-08	19681905	65253682	42095858	39	24082											
SPTB	6710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	65253739	65253739	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:65253739C>G	ENST00000389721.5	-	15	2976	c.2944G>C	c.(2944-2946)Gac>Cac	p.D982H	SPTB_ENST00000389722.3_Missense_Mutation_p.D982H|SPTB_ENST00000556626.1_Missense_Mutation_p.D982H|SPTB_ENST00000389720.3_Missense_Mutation_p.D982H|SPTB_ENST00000542895.1_Missense_Mutation_p.D982H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	982					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.D982H(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGCCCCAGGTCTTTTGTGGAC	0.602																																																1	Substitution - Missense(1)	kidney(1)											81	77	79					14																	65253739		2203	4300	6503	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2944G>C	14.37:g.65253739C>G	ENSP00000374371:p.Asp982His		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915349	0.73098	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.06	4.17	0.49024	.	0.051264	0.85682	D	0.000000	T	0.73721	0.3623	M	0.86651	2.83	0.80722	D	1	D;P	0.76494	0.999;0.493	D;B	0.71184	0.972;0.326	T	0.78142	-0.2319	10	0.59425	D	0.04	.	12.7893	0.57523	0.0:0.9184:0.0:0.0816	.	982;986	P11277;Q59FP5	SPTB1_HUMAN;.	H	986;982;982;982;982;982	ENSP00000374372:D982H;ENSP00000451752:D982H;ENSP00000374371:D982H;ENSP00000443882:D982H;ENSP00000374370:D982H	ENSP00000374370:D982H	D	-	1	0	SPTB	64323492	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.992000	0.56980	1.271000	0.44313	0.549000	0.68633	GAC		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			G	65253739	C	G	65253739	3	3	440	1	0	0	0	0	1	0	0	0	15123	913	32	4	4195	4	SPTB	14	65253739	Missense_Mutation	SNP	C	TCGA-BP-5191-01A-01D-1429-08	57	65253739	42095801	40	24083											
RBM25	58517	broad.mit.edu	37	14	73570019	73570019	+	Missense_Mutation	SNP	G	G	T	rs370213288		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:73570019G>T	ENST00000261973.7	+	10	1272	c.987G>T	c.(985-987)agG>agT	p.R329S	RBM25_ENST00000527432.1_Missense_Mutation_p.R329S	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	329	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R329S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		aacgagaaagggaaagagaac	0.502																																																1	Substitution - Missense(1)	kidney(1)											160	135	143					14																	73570019		2201	4299	6500	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.987G>T	14.37:g.73570019G>T	ENSP00000261973:p.Arg329Ser		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353466	0.24512	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.39997	1.05;1.05	5.35	5.35	0.76521	.	0.179987	0.53938	D	0.000049	T	0.31513	0.0799	L	0.43923	1.385	0.80722	D	1	B	0.20261	0.043	B	0.19666	0.026	T	0.09997	-1.0649	10	0.14252	T	0.57	.	8.9947	0.36045	0.1326:0.0:0.8674:0.0	.	329	P49756	RBM25_HUMAN	S	329	ENSP00000261973:R329S;ENSP00000431150:R329S	ENSP00000261973:R329S	R	+	3	2	RBM25	72639772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.486000	0.73629	2.665000	0.90641	0.591000	0.81541	AGG		0.502	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		T	73570019	G	T	73570019	3	4	440	1	0	0	0	0	1	0	0	0	13131	1223	43	4	1021	4	RBM25	14	73570019	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08	8316280	73570019	33779521	41	24084											
TTC8	123016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	89307274	89307274	+	Splice_Site	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:89307274T>C	ENST00000345383.5	+	3	383		c.e3+2		TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000346301.4_Splice_Site|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000536576.1_Splice_Site|TTC8_ENST00000380656.2_Splice_Site|TTC8_ENST00000338104.6_Splice_Site|Y_RNA_ENST00000384612.1_RNA	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8						axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGCCGTTAGGTATGTACTTCT	0.388																																																1	Unknown(1)	kidney(1)											56	60	59					14																	89307274		2203	4300	6503	SO:0001630	splice_region_variant	123016			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.299+2T>C	14.37:g.89307274T>C			A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Splice_Site	SNP	ENST00000345383.5	37	CCDS9885.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575383	0.28092	.	.	ENSG00000165533	ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651;ENST00000554686	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8589	0.70362	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC8	88377027	1.000000	0.71417	0.894000	0.35097	0.062000	0.15995	7.672000	0.83956	1.903000	0.55091	0.460000	0.39030	.		0.388	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596	Intron	C	89307274	T	C	89307274	5	2	440	1	0	0	0	0	0	0	1	0	16719	1652	57	3	345	3	TTC8	14	89307274	Splice_Site	SNP	T	TCGA-BP-5191-01A-01D-1429-08	15737255	89307274	18042266	42	24085											
TTC7B	145567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	91110479	91110479	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:91110479A>T	ENST00000328459.6	-	15	1785	c.1664T>A	c.(1663-1665)cTt>cAt	p.L555H	RP11-1078H9.5_ENST00000553826.1_RNA|TTC7B_ENST00000357056.2_Missense_Mutation_p.L555H|RP11-1078H9.5_ENST00000557007.1_RNA|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	555								p.L555H(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CAGGAGGGCAAGGAGGTGCAG	0.493																																																1	Substitution - Missense(1)	kidney(1)											180	169	173					14																	91110479		2203	4300	6503	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1664T>A	14.37:g.91110479A>T	ENSP00000336127:p.Leu555His		Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846527	0.91277	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972;ENST00000540938	D;D;T	0.82803	-1.65;-1.65;0.74	5.8	5.8	0.92144	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90521	0.7030	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91502	0.5220	10	0.87932	D	0	-13.619	16.1549	0.81657	1.0:0.0:0.0:0.0	.	555	Q86TV6	TTC7B_HUMAN	H	453;555;555;25;297	ENSP00000349564:L555H;ENSP00000336127:L555H;ENSP00000451440:L25H	ENSP00000336127:L555H	L	-	2	0	TTC7B	90180232	1.000000	0.71417	0.822000	0.32727	0.923000	0.55619	8.962000	0.93254	2.209000	0.71365	0.533000	0.62120	CTT		0.493	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			T	91110479	A	T	91110479	3	4	440	1	0	0	0	0	1	0	0	0	16718	72	3	5	891	5	TTC7B	14	91110479	Missense_Mutation	SNP	A	TCGA-BP-5191-01A-01D-1429-08	1803205	91110479	16239061	43	24086											
GNB5	10681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52476835	52476835	+	Silent	SNP	T	T	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr15:52476835T>G	ENST00000261837.7	-	2	104	c.39A>C	c.(37-39)tcA>tcC	p.S13S	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	13					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.S13S(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		ATTTGTCACATGAGCCAAATA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											122	116	118					15																	52476835		2195	4293	6488	SO:0001819	synonymous_variant	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.39A>C	15.37:g.52476835T>G			B2RBR5|Q9HAU9|Q9UFT3	Silent	SNP	ENST00000261837.7	37	CCDS10149.1																																																																																				0.398	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			G	52476835	T	G	52476835	2	3	440	1	0	0	0	0	0	0	0	1	6523	1451	51	5		5	GNB5	15	52476835	Silent	SNP	T	TCGA-BP-5191-01A-01D-1429-08		52476835	50054557	44	24087											
GGA2	23062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	23494281	23494281	+	Silent	SNP	C	C	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr16:23494281C>A	ENST00000309859.4	-	9	925	c.843G>T	c.(841-843)cgG>cgT	p.R281R	GGA2_ENST00000569182.1_5'Flank|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	281	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.			R -> W (in Ref. 1; AAF05708). {ECO:0000305}.	intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.R281R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CACTCGCCAACCGGAACAGCG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											159	114	129					16																	23494281		2197	4300	6497	SO:0001819	synonymous_variant	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.843G>T	16.37:g.23494281C>A			D3DWF0|O14564|Q9NYN2|Q9UPS2	Silent	SNP	ENST00000309859.4	37	CCDS10611.1																																																																																				0.572	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			A	23494281	C	A	23494281	2	1	440	1	0	0	0	0	0	0	0	1	6355	494	18	4		4	GGA2	16	23494281	Silent	SNP	C	TCGA-BP-5191-01A-01D-1429-08		23494281	66860472	45	24088											
IL4R	3566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27375116	27375116	+	Missense_Mutation	SNP	G	G	T	rs147700319	byFrequency	TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr16:27375116G>T	ENST00000395762.2	+	11	2702	c.2443G>T	c.(2443-2445)Gtc>Ttc	p.V815F	IL4R_ENST00000380922.3_Missense_Mutation_p.V800F|IL4R_ENST00000170630.2_Missense_Mutation_p.V815F|IL4R_ENST00000543915.2_Missense_Mutation_p.V815F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	815					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.V815F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CGTGAACTTTGTCTCCGTGGG	0.527																																																1	Substitution - Missense(1)	kidney(1)											118	115	116					16																	27375116		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.2443G>T	16.37:g.27375116G>T	ENSP00000379111:p.Val815Phe		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679661	0.29783	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10860	2.84;2.84;2.83;2.84	4.08	3.12	0.35913	.	3.206760	0.01318	N	0.010845	T	0.09992	0.0245	N	0.22421	0.69	0.09310	N	1	P;P;P	0.35982	0.531;0.531;0.531	B;B;B	0.33690	0.118;0.168;0.118	T	0.30909	-0.9962	10	0.46703	T	0.11	-22.229	9.024	0.36218	0.0:0.347:0.653:0.0	.	800;815;815	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	F	815;815;800;815	ENSP00000379111:V815F;ENSP00000441667:V815F;ENSP00000370309:V800F;ENSP00000170630:V815F	ENSP00000170630:V815F	V	+	1	0	IL4R	27282617	0.004000	0.15560	0.003000	0.11579	0.005000	0.04900	1.577000	0.36515	1.062000	0.40625	0.655000	0.94253	GTC		0.527	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			T	27375116	G	T	27375116	3	4	440	1	0	0	0	0	1	0	0	0	7700	1377	48	4	2495	4	IL4R	16	27375116	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08	3880835	27375116	62979637	46	24089											
XPO6	23214	broad.mit.edu;ucsc.edu	37	16	28181115	28181115	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr16:28181115T>C	ENST00000304658.5	-	5	1021	c.521A>G	c.(520-522)aAg>aGg	p.K174R	XPO6_ENST00000565698.1_Missense_Mutation_p.K160R	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	174					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.K174R(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CAGTAGCAGCTTCCGCAACTC	0.582																																																2	Substitution - Missense(2)	kidney(2)											65	67	67					16																	28181115		2015	4186	6201	SO:0001583	missense	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.521A>G	16.37:g.28181115T>C	ENSP00000302790:p.Lys174Arg		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915224	0.33815	.	.	ENSG00000169180	ENST00000304658	T	0.43688	0.94	5.75	5.75	0.90469	Exportin-1/Importin-beta-like (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	N	0.13299	0.325	0.58432	D	0.99999	B;B	0.19935	0.04;0.015	B;B	0.25140	0.058;0.013	T	0.11542	-1.0583	10	0.15952	T	0.53	-21.4639	14.008	0.64478	0.0:0.0:0.0:1.0	.	174;174	B7ZM10;Q96QU8	.;XPO6_HUMAN	R	174	ENSP00000302790:K174R	ENSP00000302790:K174R	K	-	2	0	XPO6	28088616	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.234000	0.72326	2.178000	0.69098	0.533000	0.62120	AAG		0.582	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		C	28181115	T	C	28181115	3	2	440	1	0	0	0	0	1	0	0	0	17453	1609	56	3	2936	3	XPO6	16	28181115	Missense_Mutation	SNP	T	TCGA-BP-5191-01A-01D-1429-08	805999	28181115	62173638	47	24090											
CLEC18B	497190	broad.mit.edu	37	16	74455087	74455087	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr16:74455087C>T	ENST00000339953.5	-	1	203	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	RP11-252A24.5_ENST00000567148.1_RNA|RP11-252A24.5_ENST00000566506.1_RNA	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	28						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.V28M(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGGCCACACCTCTGCCCAG	0.657																																																1	Substitution - Missense(1)	kidney(1)											72	86	81					16																	74455087		2196	4300	6496	SO:0001583	missense	497190			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.82G>A	16.37:g.74455087C>T	ENSP00000341051:p.Val28Met		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	c	9.331	1.060550	0.19987	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.09817	2.94	2.68	-0.555	0.11807	.	1.643330	0.03412	N	0.204960	T	0.07818	0.0196	N	0.24115	0.695	0.09310	N	1	B;B;B	0.23316	0.076;0.017;0.083	B;B;B	0.20577	0.009;0.03;0.03	T	0.34900	-0.9810	10	0.33940	T	0.23	.	5.0272	0.14391	0.0:0.5271:0.0:0.4729	.	28;28;28	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	M	28	ENSP00000341051:V28M	ENSP00000268492:V28M	V	-	1	0	CLEC18B	73012588	0.000000	0.05858	0.068000	0.19968	0.143000	0.21401	-0.691000	0.05133	0.040000	0.15660	0.423000	0.28283	GTG		0.657	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		T	74455087	C	T	74455087	3	4	440	1	0	0	0	0	1	0	0	0	3505	507	18	2	1337	2	CLEC18B	16	74455087	Missense_Mutation	SNP	C	TCGA-BP-5191-01A-01D-1429-08	46273972	74455087	15899666	48	24091											
UNC13D	201294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73835999	73835999	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr17:73835999A>C	ENST00000207549.4	-	12	1355	c.976T>G	c.(976-978)Tcg>Gcg	p.S326A	UNC13D_ENST00000412096.2_Missense_Mutation_p.S326A|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	326	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.S326A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGACTCAGCGACCCGTCCCAG	0.662									Familial Hemophagocytic Lymphohistiocytosis																																							1	Substitution - Missense(1)	kidney(1)											80	68	72					17																	73835999		2203	4300	6503	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.976T>G	17.37:g.73835999A>C	ENSP00000207549:p.Ser326Ala		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	A	8.412	0.844367	0.16963	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.69175	-0.37;-0.38	4.43	2.06	0.26882	.	0.396290	0.21183	N	0.078787	T	0.33294	0.0858	N	0.03608	-0.345	0.23043	N	0.998381	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.001	T	0.21759	-1.0236	10	0.07482	T	0.82	-0.682	5.8402	0.18629	0.4757:0.3988:0.0:0.1255	.	326;326	B4DTQ6;Q70J99	.;UN13D_HUMAN	A	326	ENSP00000207549:S326A;ENSP00000388093:S326A	ENSP00000207549:S326A	S	-	1	0	UNC13D	71347594	0.599000	0.26891	0.056000	0.19401	0.078000	0.17371	3.026000	0.49689	0.718000	0.32166	0.460000	0.39030	TCG		0.662	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		C	73835999	A	C	73835999	3	2	440	1	0	0	0	0	1	0	0	0	16992	275	10	5	2380	5	UNC13D	17	73835999	Missense_Mutation	SNP	A	TCGA-BP-5191-01A-01D-1429-08		73835999	7359211	49	24092											
MKNK2	2872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2041090	2041090	+	Silent	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:2041090G>T	ENST00000591601.1	-	11	1094	c.1059C>A	c.(1057-1059)gcC>gcA	p.A353A	MKNK2_ENST00000588014.1_Silent_p.A97A|MKNK2_ENST00000591142.1_Silent_p.A97A|MKNK2_ENST00000309340.7_Silent_p.A353A|MKNK2_ENST00000541165.1_Silent_p.A222A|MKNK2_ENST00000250896.3_Silent_p.A353A|MKNK2_ENST00000591588.1_Silent_p.A97A			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.A353A(2)		breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCTGCTTGGCGTCACGGA	0.657																																																2	Substitution - coding silent(2)	kidney(2)											147	115	126					19																	2041090		2203	4300	6503	SO:0001819	synonymous_variant	2872			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1059C>A	19.37:g.2041090G>T			Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	CCDS12080.1																																																																																				0.657	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		T	2041090	G	T	2041090	2	4	440	1	0	0	0	0	0	0	0	1	9607	1335	47	4		4	MKNK2	19	2041090	Silent	SNP	G	TCGA-BP-5191-01A-01D-1429-08		2041090	57087893	50	24093											
LMNB2	84823	hgsc.bcm.edu	37	19	2444467	2444467	+	Silent	SNP	T	T	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:2444467T>A	ENST00000582871.1	-	2	362	c.276A>T	c.(274-276)cgA>cgT	p.R92R	LMNB2_ENST00000325327.3_Silent_p.R112R	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	92	Coil 1B.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)	p.R92R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCACGCTCTCGAGCCGTCT	0.627																																																1	Substitution - coding silent(1)	kidney(1)											143	93	110					19																	2444467		2203	4300	6503	SO:0001819	synonymous_variant	84823			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.276A>T	19.37:g.2444467T>A			O75292|Q14734|Q96DF6	Silent	SNP	ENST00000582871.1	37																																																																																					0.627	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		A	2444467	T	A	2444467	2	1	440	1	0	0	0	0	0	0	0	1	8852	1538	54	5		5	LMNB2	19	2444467	Silent	SNP	T	TCGA-BP-5191-01A-01D-1429-08	403377	2444467	56684516	51	24094											
CHAF1A	10036	broad.mit.edu;hgsc.bcm.edu	37	19	4430546	4430546	+	Splice_Site	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:4430546G>T	ENST00000301280.5	+	11	1956	c.1855G>T	c.(1855-1857)Gat>Tat	p.D619Y	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	619	Poly-Asp.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.D619Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTTTGAGGATGATGATGA	0.463								Chromatin Structure																																								1	Substitution - Missense(1)	kidney(1)											113	94	101					19																	4430546		2203	4300	6503	SO:0001630	splice_region_variant	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1855-1G>T	19.37:g.4430546G>T			Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986072	0.53934	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.16597	2.33	4.25	4.25	0.50352	.	.	.	.	.	T	0.40619	0.1124	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.30208	-0.9986	8	.	.	.	-18.7454	9.5763	0.39459	0.0966:0.0:0.9034:0.0	.	619	Q13111	CAF1A_HUMAN	Y	619	ENSP00000301280:D619Y	.	D	+	1	0	CHAF1A	4381546	1.000000	0.71417	0.990000	0.47175	0.641000	0.38312	6.732000	0.74790	2.200000	0.70718	0.313000	0.20887	GAT		0.463	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483	Missense_Mutation	T	4430546	G	T	4430546	5	4	440	1	0	0	0	0	0	0	1	0	3313	1188	41	4	1897	4	CHAF1A	19	4430546	Splice_Site	SNP	G	TCGA-BP-5191-01A-01D-1429-08	1986079	4430546	54698437	52	24095											
TICAM1	148022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4817858	4817858	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:4817858G>T	ENST00000248244.5	-	2	761	c.532C>A	c.(532-534)Ctc>Atc	p.L178I		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	178					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.L178I(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGCGTGGGAGGCTCCTGGTC	0.642																																																1	Substitution - Missense(1)	kidney(1)											79	79	79					19																	4817858		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.532C>A	19.37:g.4817858G>T	ENSP00000248244:p.Leu178Ile		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	9.154	1.016960	0.19355	.	.	ENSG00000127666	ENST00000248244	T	0.46819	0.86	4.66	1.2	0.21068	.	1.341310	0.05669	N	0.588320	T	0.38188	0.1031	L	0.50333	1.59	0.09310	N	1	B	0.26002	0.139	B	0.16722	0.016	T	0.33007	-0.9885	10	0.48119	T	0.1	-5.7735	2.2269	0.03986	0.1419:0.3445:0.3512:0.1623	.	178	Q8IUC6	TCAM1_HUMAN	I	178	ENSP00000248244:L178I	ENSP00000248244:L178I	L	-	1	0	TICAM1	4768858	0.009000	0.17119	0.152000	0.22495	0.161000	0.22273	0.384000	0.20668	0.474000	0.27392	0.305000	0.20034	CTC		0.642	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		T	4817858	G	T	4817858	3	4	440	1	0	0	0	0	1	0	0	0	15897	1000	35	4	1610	4	TICAM1	19	4817858	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08	387312	4817858	54311125	53	24096											
NCAN	1463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19329806	19329806	+	Silent	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:19329806G>A	ENST00000252575.6	+	3	255	c.156G>A	c.(154-156)gcG>gcA	p.A52A		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	52	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.A52A(1)|p.A66A(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTGCGCTGGCGGAGCTGGTGG	0.647																																																2	Substitution - coding silent(2)	kidney(2)											30	31	31					19																	19329806		2203	4298	6501	SO:0001819	synonymous_variant	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.156G>A	19.37:g.19329806G>A			Q9UPK6	Silent	SNP	ENST00000252575.6	37	CCDS12397.1																																																																																				0.647	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		A	19329806	G	A	19329806	2	1	440	1	0	0	0	0	0	0	0	1	10206	1103	39	1		1	NCAN	19	19329806	Silent	SNP	G	TCGA-BP-5191-01A-01D-1429-08	14511948	19329806	39799177	54	24097											
PSENEN	55851	broad.mit.edu;ucsc.edu	37	19	36237651	36237651	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:36237651T>C	ENST00000587708.2	+	4	892	c.209T>C	c.(208-210)gTg>gCg	p.V70A	U2AF1L4_ENST00000292879.5_5'Flank|PSENEN_ENST00000591949.1_3'UTR|AC002398.11_ENST00000591091.1_RNA|U2AF1L4_ENST00000412391.2_5'Flank|PSENEN_ENST00000222266.2_Missense_Mutation_p.V70A|AD000671.6_ENST00000589807.1_5'Flank|U2AF1L4_ENST00000378975.3_5'Flank|LIN37_ENST00000301159.9_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|AC002398.11_ENST00000585365.1_RNA|AC002398.9_ENST00000591613.2_Intron			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	70					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V70A(1)		central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGTGATAGTGCTCACCTCC	0.602																																																1	Substitution - Missense(1)	kidney(1)											91	94	93					19																	36237651		2203	4300	6503	SO:0001583	missense	55851			AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"presenilin enhancer 2 homolog (C. elegans)"			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.209T>C	19.37:g.36237651T>C	ENSP00000468411:p.Val70Ala		B2R5L9	Missense_Mutation	SNP	ENST00000587708.2	37	CCDS12474.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243014	0.39697	.	.	ENSG00000205155	ENST00000222266	T	0.79033	-1.23	5.86	2.62	0.31277	.	0.416142	0.25677	N	0.029026	T	0.56558	0.1993	N	0.17379	0.485	0.44073	D	0.99682	B	0.06786	0.001	B	0.08055	0.003	T	0.41124	-0.9526	10	0.07990	T	0.79	-8.0848	9.3644	0.38215	0.0:0.213:0.0:0.787	.	70	Q9NZ42	PEN2_HUMAN	A	70	ENSP00000222266:V70A	ENSP00000222266:V70A	V	+	2	0	PSENEN	40929491	0.999000	0.42202	0.849000	0.33467	0.995000	0.86356	2.266000	0.43320	0.478000	0.27488	0.533000	0.62120	GTG		0.602	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459101.2	NM_172341		C	36237651	T	C	36237651	3	2	440	1	0	0	0	0	1	0	0	0	12657	1696	59	3	219	3	PSENEN	19	36237651	Missense_Mutation	SNP	T	TCGA-BP-5191-01A-01D-1429-08	16907845	36237651	22891332	55	24098											
ZNF223	7766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44571333	44571333	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:44571333G>C	ENST00000434772.3	+	5	1607	c.1352G>C	c.(1351-1353)aGt>aCt	p.S451T	ZNF223_ENST00000591793.1_Missense_Mutation_p.S561T	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S451T(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AAAAACCACAGTGGAGAAAAT	0.378																																																1	Substitution - Missense(1)	kidney(1)											67	70	69					19																	44571333		2203	4300	6503	SO:0001583	missense	7766			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1352G>C	19.37:g.44571333G>C	ENSP00000401947:p.Ser451Thr		Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.382699	0.01204	.	.	ENSG00000178386	ENST00000434772	T	0.12569	2.67	2.46	-4.93	0.03066	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.02391	-0.57	0.09310	N	1	B	0.19200	0.034	B	0.24974	0.057	T	0.45338	-0.9268	9	0.02654	T	1	.	10.3203	0.43762	0.1228:0.7079:0.1692:0.0	.	451	Q9UK11	ZN223_HUMAN	T	451	ENSP00000401947:S451T	ENSP00000401947:S451T	S	+	2	0	ZNF223	49263173	0.000000	0.05858	0.001000	0.08648	0.148000	0.21650	0.070000	0.14573	-0.634000	0.05538	0.313000	0.20887	AGT		0.378	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			C	44571333	G	C	44571333	3	2	440	1	0	0	0	0	1	0	0	0	17782	1029	36	4	1366	4	ZNF223	19	44571333	Missense_Mutation	SNP	G	TCGA-BP-5191-01A-01D-1429-08	8333682	44571333	14557650	56	24099											
KLK8	11202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51503868	51503868	+	Intron	SNP	C	C	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:51503868C>T	ENST00000600767.1	-	4	560				KLK8_ENST00000291726.7_Intron|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000598195.1_5'Flank|KLK9_ENST00000376832.4_Intron|KLK9_ENST00000250366.6_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000391806.2_Nonsense_Mutation_p.W59*			O60259	KLK8_HUMAN	kallikrein-related peptidase 8						cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.W59*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGTTGGATCGCCACCCTCTGG	0.617																																																1	Substitution - Nonsense(1)	kidney(1)											67	63	64					19																	51503868		2203	4300	6503	SO:0001627	intron_variant	11202			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.71-29G>A	19.37:g.51503868C>T			Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Nonsense_Mutation	SNP	ENST00000600767.1	37	CCDS12813.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128209	0.56721	.	.	ENSG00000129455	ENST00000391806	.	.	.	4.27	0.605	0.17553	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	4.1402	0.10189	0.0:0.5875:0.1932:0.2193	.	.	.	.	X	59	.	ENSP00000375682:W59X	W	-	3	0	KLK8	56195680	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.156000	0.10100	0.530000	0.28619	0.561000	0.74099	TGG		0.617	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		T	51503868	C	T	51503868	1	4	440	0	1	0	0	0	0	0	0	0	8412	740	26	2		2	KLK8	19	51503868	Intron	SNP	C	TCGA-BP-5191-01A-01D-1429-08	6932535	51503868	7625115	57	24100											
CSRP2BP	57325	broad.mit.edu;hgsc.bcm.edu	37	20	18123411	18123411	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr20:18123411C>T	ENST00000435364.3	+	1	448	c.107C>T	c.(106-108)aCg>aTg	p.T36M	CSRP2BP_ENST00000489634.2_5'Flank|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.T36M|PET117_ENST00000432901.3_3'UTR	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	36					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.T36M(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GAGGGAGAGACGCTCCTGATC	0.537																																																1	Substitution - Missense(1)	kidney(1)											180	128	145					20																	18123411		2203	4300	6503	SO:0001583	missense	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.107C>T	20.37:g.18123411C>T	ENSP00000392318:p.Thr36Met		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890418	0.72524	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000464792;ENST00000435364	T;T;T	0.22539	1.95;1.95;1.95	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01791	-1.1273	10	0.29301	T	0.29	-27.6699	19.6275	0.95684	0.0:1.0:0.0:0.0	.	36	Q9H8E8	CSR2B_HUMAN	M	36	ENSP00000278816:T36M;ENSP00000366909:T36M;ENSP00000392318:T36M	ENSP00000278816:T36M	T	+	2	0	CSRP2BP	18071411	1.000000	0.71417	0.966000	0.40874	0.311000	0.27955	7.244000	0.78228	2.723000	0.93209	0.563000	0.77884	ACG		0.537	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		T	18123411	C	T	18123411	3	4	440	1	0	0	0	0	1	0	0	0	3970	536	19	1	109	1	CSRP2BP	20	18123411	Missense_Mutation	SNP	C	TCGA-BP-5191-01A-01D-1429-08		18123411	44902109	58	24101											
SALL4	57167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	50408862	50408862	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr20:50408862C>T	ENST00000217086.4	-	2	271	c.160G>A	c.(160-162)Gag>Aag	p.E54K	SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.E54K	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	54					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E54K(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCGCCACCTCGTCATTCCCT	0.552																																																1	Substitution - Missense(1)	kidney(1)											49	51	50					20																	50408862		2203	4300	6503	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.160G>A	20.37:g.50408862C>T	ENSP00000217086:p.Glu54Lys		A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214285	0.58452	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.54279	0.58;0.58	5.41	4.44	0.53790	.	1.148980	0.06636	N	0.760062	T	0.36552	0.0971	N	0.08118	0	0.80722	D	1	B;B	0.28605	0.217;0.217	B;B	0.22152	0.038;0.038	T	0.01977	-1.1236	10	0.42905	T	0.14	-12.8733	13.2978	0.60307	0.0:0.9205:0.0:0.0795	.	54;54	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	K	54	ENSP00000217086:E54K;ENSP00000379319:E54K	ENSP00000217086:E54K	E	-	1	0	SALL4	49842269	0.008000	0.16893	0.001000	0.08648	0.003000	0.03518	1.684000	0.37649	1.204000	0.43247	0.655000	0.94253	GAG		0.552	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			T	50408862	C	T	50408862	3	4	440	1	0	0	0	0	1	0	0	0	13819	893	31	1	3013	1	SALL4	20	50408862	Missense_Mutation	SNP	C	TCGA-BP-5191-01A-01D-1429-08	32285451	50408862	12616658	59	24102											
TSHZ2	128553	hgsc.bcm.edu;ucsc.edu	37	20	51870779	51870779	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr20:51870779delG	ENST00000371497.5	+	2	1669	c.782delG	c.(781-783)aggfs	p.R261fs	TSHZ2_ENST00000603338.2_Frame_Shift_Del_p.R258fs|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Frame_Shift_Del_p.R258fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	261					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCCAGGAAAAGGGCTTTCCAG	0.473																																																0													67	52	57					20																	51870779		2203	4300	6503	SO:0001589	frameshift_variant	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.782delG	20.37:g.51870779delG	ENSP00000360552:p.Arg261fs		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Frame_Shift_Del	DEL	ENST00000371497.5	37	CCDS33490.1																																																																																				0.473	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		-	51870779	G	-	51870779	7	5	440	1	0	1	0	1	0	0	0	0	16629	1000	35	0	788	0	TSHZ2	20	51870779	Frame_Shift_Del	DEL	G	TCGA-BP-5191-01A-01D-1429-08	1461917	51870779	11154741	60	24103											
LIPI	149998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	15481370	15481370	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr21:15481370T>C	ENST00000536861.1	-	10	1326	c.1327A>G	c.(1327-1329)Aaa>Gaa	p.K443E	AP001347.6_ENST00000428809.1_RNA|AP001347.6_ENST00000432621.1_RNA|LIPI_ENST00000344577.2_Missense_Mutation_p.K464E			Q6XZB0	LIPI_HUMAN	lipase, member I	443					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.K464E(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCTCTGTCTTTAAGTACAATA	0.343																																																1	Substitution - Missense(1)	kidney(1)											154	162	159					21																	15481370		2203	4299	6502	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1327A>G	21.37:g.15481370T>C	ENSP00000440381:p.Lys443Glu		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	t	0.014	-1.580432	0.00879	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.87650	-2.28;-2.27	3.7	2.51	0.30379	.	0.800922	0.11408	N	0.567070	T	0.71937	0.3399	N	0.17082	0.46	0.20703	N	0.999866	B	0.06786	0.001	B	0.10450	0.005	T	0.56050	-0.8043	10	0.02654	T	1	.	7.0096	0.24855	0.0:0.0:0.2338:0.7662	.	464	Q6XZB0-2	.	E	464;443	ENSP00000343331:K464E;ENSP00000440381:K443E	ENSP00000343331:K464E	K	-	1	0	LIPI	14403241	0.928000	0.31464	0.987000	0.45799	0.221000	0.24807	0.555000	0.23422	0.740000	0.32651	0.533000	0.62120	AAA		0.343	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		C	15481370	T	C	15481370	3	2	440	1	0	0	0	0	1	0	0	0	8827	1763	61	3	59	3	LIPI	21	15481370	Missense_Mutation	SNP	T	TCGA-BP-5191-01A-01D-1429-08		15481370	32648525	61	24104											
KRTAP10-9	386676	hgsc.bcm.edu	37	21	46047394	46047394	+	Silent	SNP	C	C	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr21:46047394C>A	ENST00000397911.3	+	1	355	c.306C>A	c.(304-306)ccC>ccA	p.P102P	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	102	25 X 5 AA repeats of C-C-X(3).			P -> PVCCKT (in Ref. 3; EAX09409). {ECO:0000305}.		keratin filament (GO:0045095)		p.P102P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						gctgcgtgcccgtctgctgca	0.657																																																1	Substitution - coding silent(1)	kidney(1)											79	95	90					21																	46047394		2201	4299	6500	SO:0001819	synonymous_variant	386676			AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.306C>A	21.37:g.46047394C>A			A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	CCDS42961.1																																																																																				0.657	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			A	46047394	C	A	46047394	2	1	440	1	0	0	0	0	0	0	0	1	8518	639	23	4		4	KRTAP10-9	21	46047394	Silent	SNP	C	TCGA-BP-5191-01A-01D-1429-08	30566024	46047394	2082501	62	24105											
TRIOBP	11078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38119680	38119680	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr22:38119680C>A	ENST00000406386.3	+	7	1372	c.1117C>A	c.(1117-1119)Ccc>Acc	p.P373T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	373					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.P373T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TACTTGTACTCCCCAGCGGGA	0.557																																																1	Substitution - Missense(1)	kidney(1)											122	130	127					22																	38119680		1878	4103	5981	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1117C>A	22.37:g.38119680C>A	ENSP00000384312:p.Pro373Thr		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	9.915	1.210707	0.22289	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19105	2.17	2.63	-1.64	0.08318	.	.	.	.	.	T	0.06690	0.0171	N	0.03115	-0.41	0.09310	N	0.999998	B	0.17038	0.02	B	0.12837	0.008	T	0.37126	-0.9719	9	0.22706	T	0.39	.	2.0582	0.03586	0.2527:0.3687:0.0:0.3786	.	373	Q9H2D6	TARA_HUMAN	T	373	ENSP00000384312:P373T	ENSP00000384312:P373T	P	+	1	0	TRIOBP	36449626	0.000000	0.05858	0.001000	0.08648	0.543000	0.35085	-1.342000	0.02645	-0.015000	0.14150	0.400000	0.26472	CCC		0.557	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			A	38119680	C	A	38119680	3	1	440	1	0	0	0	0	1	0	0	0	16558	855	30	4	1135	4	TRIOBP	22	38119680	Missense_Mutation	SNP	C	TCGA-BP-5191-01A-01D-1429-08		38119680	13184886	63	24106											
XRCC6	2547	broad.mit.edu;hgsc.bcm.edu	37	22	42054277	42054277	+	Silent	SNP	C	C	T	rs139850731		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr22:42054277C>T	ENST00000359308.4	+	10	2098	c.1443C>T	c.(1441-1443)ccC>ccT	p.P481P	XRCC6_ENST00000360079.3_Silent_p.P481P|XRCC6_ENST00000402580.3_Silent_p.P440P|XRCC6_ENST00000405878.1_Silent_p.P481P|XRCC6_ENST00000428575.2_Silent_p.P348P|XRCC6_ENST00000405506.1_Silent_p.P431P			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	481					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.P481P(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TTGAGAACCCCGTGCTGCAGC	0.418								Non-homologous end-joining																																								2	Substitution - coding silent(2)	kidney(1)|central_nervous_system(1)						C		0,4406		0,0,2203	77	76	77		1443	-4.8	1	22	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	XRCC6	NM_001469.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		481/610	42054277	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2547			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1443C>T	22.37:g.42054277C>T			B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	CCDS14021.1																																																																																				0.418	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		T	42054277	C	T	42054277	2	4	440	1	0	0	0	0	0	0	0	1	17462	639	23	1		1	XRCC6	22	42054277	Silent	SNP	C	TCGA-BP-5191-01A-01D-1429-08	3934597	42054277	9250289	64	24107											
ZFX	7543	hgsc.bcm.edu;ucsc.edu	37	X	24197441	24197458	+	In_Frame_Del	DEL	TTATTGAGGACGTTGTTA	TTATTGAGGACGTTGTTA	-	rs150946689		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	TTATTGAGGACGTTGTTA	TTATTGAGGACGTTGTTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chrX:24197441_24197458delTTATTGAGGACGTTGTTA	ENST00000379177.1	+	6	627_644	c.200_217delTTATTGAGGACGTTGTTA	c.(199-219)gttattgaggacgttgttata>gta	p.IEDVVI68del	ZFX_ENST00000304543.5_In_Frame_Del_p.IEDVVI68del|ZFX_ENST00000379188.3_In_Frame_Del_p.IEDVVI68del|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_In_Frame_Del_p.IEDVVI107del|ZFX_ENST00000338565.3_In_Frame_Del_p.IEDVVI68del	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	68					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATCCAAGATGTTATTGAGGACGTTGTTATAGAAGATGT	0.399																																					Esophageal Squamous(20;306 562 7346 32868 37983)											0																																										SO:0001651	inframe_deletion	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.200_217delTTATTGAGGACGTTGTTA	X.37:g.24197441_24197458delTTATTGAGGACGTTGTTA	ENSP00000368475:p.Ile68_Ile73del		B9EG97|O43668|Q8WYJ8	In_Frame_Del	DEL	ENST00000379177.1	37	CCDS14211.1																																																																																				0.399	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		-	24197458	TTATTGAGGACGTTGTTA	-	24197441	7	5	440	1	0	1	0	1	0	0	0	0	17666	1725	60	0	206	0	ZFX	23	24197441	In_Frame_Del	DEL	TTATTGAGGACGTTGTTA	TCGA-BP-5191-01A-01D-1429-08		24197441	131073119	65	24108											
KIF17	57576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20998503	20998504	+	Missense_Mutation	DNP	AC	AC	GT			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr1:20998503_20998504AC>GT	ENST00000247986.2	-	12	2959_2960	c.2649_2650GT>AC	c.(2647-2652)gaGTcc>gaACcc	p.S884P	KIF17_ENST00000375044.1_Missense_Mutation_p.S784P|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Missense_Mutation_p.S884P			Q9P2E2	KIF17_HUMAN	kinesin family member 17	884					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.S884P(2)|p.E883E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCCCAGCAGGACTCACGCAGAA	0.574																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2649_2650delinsGT	1.37:g.20998503_20998504delinsGT	ENSP00000247986:p.Ser884Pro		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation|Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																				0.574	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		GT	20998504	AC	GT	20998503	3	3	441	1	0	0	0	0	1	0	0	0	8281	275	10	3	455	3	KIF17	1	20998503	Missense_Mutation	DNP	AC	TCGA-BP-5192-01A-01D-1429-08		20998503	228252118	1	24109											
RUNX3	864	broad.mit.edu;hgsc.bcm.edu	37	1	25256188	25256188	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr1:25256188C>G	ENST00000308873.6	-	1	180	c.172G>C	c.(172-174)Gtg>Ctg	p.V58L	RUNX3_ENST00000540420.1_5'Flank|RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000338888.3_Missense_Mutation_p.V72L|RUNX3_ENST00000399916.1_Missense_Mutation_p.V72L	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	58	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V72L(1)|p.V58L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TCCGCCAGCACGTCCACCATC	0.746																																																2	Substitution - Missense(2)	kidney(2)											25	21	23					1																	25256188		2197	4295	6492	SO:0001583	missense	864			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.172G>C	1.37:g.25256188C>G	ENSP00000308051:p.Val58Leu		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	CCDS257.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069968	0.55539	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000428150	D;D;D	0.99394	-5.82;-5.82;-5.82	3.23	2.31	0.28768	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.077825	0.50627	N	0.000113	D	0.95834	0.8644	N	0.08118	0	0.80722	D	1	B;B;B;B	0.21147	0.006;0.042;0.052;0.003	B;B;B;B	0.30029	0.014;0.067;0.11;0.059	D	0.91583	0.5280	10	0.27785	T	0.31	-12.9325	8.9443	0.35749	0.0:0.8848:0.0:0.1152	.	58;72;72;58	E9PH34;Q13761-2;B1AJV5;Q13761	.;.;.;RUNX3_HUMAN	L	72;58;72;58	ENSP00000382800:V72L;ENSP00000308051:V58L;ENSP00000343477:V72L	ENSP00000308051:V58L	V	-	1	0	RUNX3	25128775	1.000000	0.71417	0.996000	0.52242	0.002000	0.02628	4.348000	0.59379	0.564000	0.29238	-0.339000	0.08088	GTG		0.746	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		G	25256188	C	G	25256188	3	3	441	1	0	0	0	0	1	0	0	0	13755	536	19	4	1095	4	RUNX3	1	25256188	Missense_Mutation	SNP	C	TCGA-BP-5192-01A-01D-1429-08	4257685	25256188	223994433	2	24110											
KCND3	3752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	112319724	112319724	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr1:112319724C>T	ENST00000315987.2	-	7	2169	c.1690G>A	c.(1690-1692)Gct>Act	p.A564T	KCND3_ENST00000302127.4_Missense_Mutation_p.A545T|KCND3_ENST00000369697.1_Missense_Mutation_p.A545T	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	564				A -> D (in Ref. 2; AAF01044/AAF01045). {ECO:0000305}.	cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A545T(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGGCGAGTAGCTGGCAGGTTA	0.597																																																1	Substitution - Missense(1)	kidney(1)											184	162	170					1																	112319724		2203	4300	6503	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1690G>A	1.37:g.112319724C>T	ENSP00000319591:p.Ala564Thr		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.349832	0.41599	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.83755	-1.76;-1.76;-1.76	5.46	5.46	0.80206	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.338684	0.34156	N	0.004202	T	0.69869	0.3159	L	0.51422	1.61	0.54753	D	0.999987	B;B	0.12013	0.002;0.005	B;B	0.18263	0.014;0.021	T	0.67925	-0.5544	10	0.12766	T	0.61	.	18.9016	0.92444	0.0:1.0:0.0:0.0	.	545;564	Q14D71;Q9UK17	.;KCND3_HUMAN	T	545;564;545	ENSP00000358711:A545T;ENSP00000319591:A564T;ENSP00000306923:A545T	ENSP00000306923:A545T	A	-	1	0	KCND3	112121247	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.863000	0.69568	2.570000	0.86706	0.650000	0.86243	GCT		0.597	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		T	112319724	C	T	112319724	3	4	441	1	0	0	0	0	1	0	0	0	8022	797	28	2	285	2	KCND3	1	112319724	Missense_Mutation	SNP	C	TCGA-BP-5192-01A-01D-1429-08	87063536	112319724	136930897	3	24111											
PLEKHA6	22874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204230552	204230552	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr1:204230552A>C	ENST00000272203.3	-	7	722	c.406T>G	c.(406-408)Tac>Gac	p.Y136D	PLEKHA6_ENST00000485632.1_5'UTR|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.Y156D	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	136	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.Y136D(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTGAAGAAGTAGGTGCGGACC	0.642																																																1	Substitution - Missense(1)	kidney(1)											44	44	44					1																	204230552		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.406T>G	1.37:g.204230552A>C	ENSP00000272203:p.Tyr136Asp		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731356	0.89390	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.17854	2.25;2.25	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77451	-0.2583	10	0.87932	D	0	-22.6878	15.3812	0.74658	1.0:0.0:0.0:0.0	.	136	Q9Y2H5	PKHA6_HUMAN	D	136;156	ENSP00000272203:Y136D;ENSP00000402046:Y156D	ENSP00000272203:Y136D	Y	-	1	0	PLEKHA6	202497175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.531000	0.90610	2.103000	0.63969	0.533000	0.62120	TAC		0.642	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		C	204230552	A	C	204230552	3	2	441	1	0	0	0	0	1	0	0	0	12062	420	15	5	2804	5	PLEKHA6	1	204230552	Missense_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08	91910828	204230552	45020069	4	24112											
TMEM81	388730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205053016	205053016	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr1:205053016C>A	ENST00000367167.3	-	1	629	c.433G>T	c.(433-435)Gtg>Ttg	p.V145L		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	145	Ig-like.					integral component of membrane (GO:0016021)		p.V145L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTAAACTTCACAAAGTGGGAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											79	86	84					1																	205053016		2203	4300	6503	SO:0001583	missense	388730			BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.433G>T	1.37:g.205053016C>A	ENSP00000356135:p.Val145Leu		Q6UVZ4	Missense_Mutation	SNP	ENST00000367167.3	37	CCDS1450.1	.	.	.	.	.	.	.	.	.	.	C	6.358	0.434208	0.12045	.	.	ENSG00000174529	ENST00000367167	T	0.19105	2.17	5.93	-1.67	0.08238	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.533478	0.18515	N	0.138946	T	0.10551	0.0258	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.18524	-1.0334	10	0.34782	T	0.22	-16.6803	0.3309	0.00318	0.2303:0.3008:0.1918:0.2771	.	145	Q6P7N7	TMM81_HUMAN	L	145	ENSP00000356135:V145L	ENSP00000356135:V145L	V	-	1	0	TMEM81	203319639	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.362000	0.07602	-0.303000	0.08856	-0.152000	0.13540	GTG		0.468	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		A	205053016	C	A	205053016	3	1	441	1	0	0	0	0	1	0	0	0	16210	478	17	4	338	4	TMEM81	1	205053016	Missense_Mutation	SNP	C	TCGA-BP-5192-01A-01D-1429-08	822464	205053016	44197605	5	24113											
R3HDM1	23518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	136402959	136402959	+	Silent	SNP	C	C	T	rs376486443		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr2:136402959C>T	ENST00000264160.4	+	16	1855	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	R3HDM1_ENST00000410054.1_Silent_p.F439F|R3HDM1_ENST00000329971.3_Silent_p.F366F|R3HDM1_ENST00000409478.1_Silent_p.F366F|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409606.1_Silent_p.F495F	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	495							poly(A) RNA binding (GO:0044822)	p.F495F(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GTCAGCCCTTCATAAACCCAG	0.423																																																1	Substitution - coding silent(1)	kidney(1)											92	93	93					2																	136402959		2203	4300	6503	SO:0001819	synonymous_variant	23518			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1485C>T	2.37:g.136402959C>T			A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	8.845	0.943073	0.18281	.	.	ENSG00000048991	ENST00000441871;ENST00000429703;ENST00000425804	.	.	.	5.61	4.54	0.55810	.	.	.	.	.	T	0.61048	0.2316	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57659	-0.7773	4	.	.	.	-7.4727	10.1666	0.42884	0.0:0.7947:0.0:0.2053	.	.	.	.	Y	125;184;79	.	.	H	+	1	0	R3HDM1	136119429	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.852000	0.27764	2.631000	0.89168	0.655000	0.94253	CAT		0.423	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		T	136402959	C	T	136402959	2	4	441	1	0	0	0	0	0	0	0	1	12893	825	29	2		2	R3HDM1	2	136402959	Silent	SNP	C	TCGA-BP-5192-01A-01D-1429-08		136402959	106796414	6	24114											
DUSP19	142679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	183960371	183960371	+	Silent	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr2:183960371G>A	ENST00000354221.4	+	4	814	c.639G>A	c.(637-639)caG>caA	p.Q213Q	AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000342619.6_Silent_p.Q162Q	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	213					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.Q213Q(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						ACAGAATACAGGAGAACAGTT	0.398																																																1	Substitution - coding silent(1)	kidney(1)											92	89	90					2																	183960371		2203	4300	6503	SO:0001819	synonymous_variant	142679			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.639G>A	2.37:g.183960371G>A			B2RA79|Q547H4|Q8WYN4	Silent	SNP	ENST00000354221.4	37	CCDS2289.1																																																																																				0.398	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			A	183960371	G	A	183960371	2	1	441	1	0	0	0	0	0	0	0	1	4820	991	35	2		2	DUSP19	2	183960371	Silent	SNP	G	TCGA-BP-5192-01A-01D-1429-08	47557412	183960371	59239002	7	24115											
SPHKAP	80309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228883287	228883287	+	Silent	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr2:228883287A>G	ENST00000392056.3	-	7	2329	c.2283T>C	c.(2281-2283)gcT>gcC	p.A761A	SPHKAP_ENST00000344657.5_Silent_p.A761A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	761						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A761A(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTTTGTCCAAGCTTGACTAG	0.488																																																2	Substitution - coding silent(2)	kidney(2)											165	165	165					2																	228883287		2203	4300	6503	SO:0001819	synonymous_variant	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2283T>C	2.37:g.228883287A>G			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																				0.488	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		G	228883287	A	G	228883287	2	3	441	1	0	0	0	0	0	0	0	1	15053	59	3	3		3	SPHKAP	2	228883287	Silent	SNP	A	TCGA-BP-5192-01A-01D-1429-08	44922916	228883287	14316086	8	24116											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191508	10191511	+	Frame_Shift_Del	DEL	GAGC	GAGC	-	rs398123483		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	GAGC	GAGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr3:10191508_10191511delGAGC	ENST00000256474.2	+	3	1341_1344	c.501_504delGAGC	c.(499-504)cggagcfs	p.RS167fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.RS126fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	167			R -> G (in VHLD; type I-II). {ECO:0000269|PubMed:9829911}.|R -> Q (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030821). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|R -> W (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030820). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8592333, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S168fs*2(4)|p.S168fs*3(1)|p.L169_V170del(1)|p.V166fs*6(1)|p.R167fs*6(1)|p.V170fs*31(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGGTTGTCCGGAGCCTAGTCAAGC	0.515		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Deletion - Frameshift(8)|Deletion - In frame(1)	kidney(9)	GRCh37	CD004317|CI951987	VHL	D|I																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.501_504delGAGC	3.37:g.10191508_10191511delGAGC	ENSP00000256474:p.Arg167fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.515	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191511	GAGC	-	10191508	7	5	441	1	0	1	0	1	0	0	0	0	17167	1161	41	0	511	0	VHL	3	10191508	Frame_Shift_Del	DEL	GAGC	TCGA-BP-5192-01A-01D-1429-08		10191508	187830922	9	24117											
PLCL2	23228	hgsc.bcm.edu	37	3	17052987	17052988	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr3:17052987_17052988insG	ENST00000418129.2	+	2	2236_2237	c.1771_1772insG	c.(1771-1773)tggfs	p.W591fs	PLCL2_ENST00000396755.2_Frame_Shift_Ins_p.W591fs|PLCL2_ENST00000432376.1_Frame_Shift_Ins_p.W591fs	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	717					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GAATATTGGCTGGTTTAGGCAG	0.48																																																0																																										SO:0001589	frameshift_variant	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1773dupG	3.37:g.17052989_17052989dupG	ENSP00000409637:p.Trp591fs		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Frame_Shift_Ins	INS	ENST00000418129.2	37	CCDS33713.1																																																																																				0.48	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			G	17052988	-	G	17052987	7	5	441	1	0	1	1	0	0	0	0	0	12042	1580	55	0	2149	0	PLCL2	3	17052987	Frame_Shift_Ins	INS	-	TCGA-BP-5192-01A-01D-1429-08	6861479	17052987	180969443	10	24118											
PRSS50	29122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	46754550	46754550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr3:46754550C>T	ENST00000460241.1	-	10	2432	c.762G>A	c.(760-762)tgG>tgA	p.W254*	PRSS50_ENST00000315170.7_Nonsense_Mutation_p.W254*			Q9UI38	TSP50_HUMAN	protease, serine, 50	254	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.W254*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGAACTGAGGCCACATGCCTG	0.557																																					Pancreas(41;915 1239 11561 17469)											1	Substitution - Nonsense(1)	kidney(1)											211	196	201					3																	46754550		2203	4300	6503	SO:0001587	stop_gained	29122			AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.762G>A	3.37:g.46754550C>T	ENSP00000418875:p.Trp254*			Nonsense_Mutation	SNP	ENST00000460241.1	37	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026374	0.54683	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	.	.	.	3.55	3.55	0.40652	.	0.926087	0.08913	N	0.875584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	11.0041	0.47624	0.0:1.0:0.0:0.0	.	.	.	.	X	168;254;254	.	ENSP00000326598:W254X	W	-	3	0	PRSS50	46729554	0.982000	0.34865	0.994000	0.49952	0.757000	0.42996	3.233000	0.51311	2.291000	0.77112	0.650000	0.86243	TGG		0.557	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			T	46754550	C	T	46754550	4	4	441	1	0	0	0	0	0	1	0	0	12636	740	26	2	403	2	PRSS50	3	46754550	Nonsense_Mutation	SNP	C	TCGA-BP-5192-01A-01D-1429-08	29701563	46754550	151267880	11	24119											
DNAJB11	51726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186299170	186299170	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr3:186299170A>C	ENST00000439351.1	+	6	1396	c.467A>C	c.(466-468)aAc>aCc	p.N156T	DNAJB11_ENST00000265028.3_Missense_Mutation_p.N156T			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	156					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N156T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GTAGTTAGAAACAAACCTGTG	0.512																																																1	Substitution - Missense(1)	kidney(1)											93	85	88					3																	186299170		2203	4300	6503	SO:0001583	missense	51726			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.467A>C	3.37:g.186299170A>C	ENSP00000414398:p.Asn156Thr		Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071750	0.36566	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.67171	-0.25;-0.25	6.03	6.03	0.97812	HSP40/DnaJ peptide-binding (1);	0.042641	0.85682	D	0.000000	T	0.52933	0.1765	N	0.22421	0.69	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.48007	-0.9072	10	0.24483	T	0.36	-21.9494	14.5176	0.67830	1.0:0.0:0.0:0.0	.	156	Q9UBS4	DJB11_HUMAN	T	156	ENSP00000414398:N156T;ENSP00000265028:N156T	ENSP00000265028:N156T	N	+	2	0	DNAJB11	187781864	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.983000	0.70540	2.302000	0.77476	0.533000	0.62120	AAC		0.512	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			C	186299170	A	C	186299170	3	2	441	1	0	0	0	0	1	0	0	0	4618	43	2	5	485	5	DNAJB11	3	186299170	Missense_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08	139544620	186299170	11723260	12	24120											
RFC1	5981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	39308288	39308289	+	Missense_Mutation	DNP	CC	CC	AA	rs1057749|rs1135544|rs374867437		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr4:39308288_39308289CC>AA	ENST00000381897.1	-	14	2054_2055	c.1921_1922GG>TT	c.(1921-1923)GGc>TTc	p.G641F	RFC1_ENST00000349703.2_Missense_Mutation_p.G640F	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	641				G -> N (in Ref. 2, 3 and 4). {ECO:0000305}.	DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.G641C(1)|p.G641>?(1)|p.G641V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAAACTAGAGCCATCATCTTTG	0.47																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1921_1922delinsAA	4.37:g.39308288_39308289delinsAA	ENSP00000371321:p.Gly641Phe		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1																																																																																				0.47	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		AA	39308289	CC	AA	39308288	3	1	441	1	0	0	0	0	1	0	0	0	13250	739	26	4	1572	4	RFC1	4	39308288	Missense_Mutation	DNP	CC	TCGA-BP-5192-01A-01D-1429-08		39308288	151845988	13	24121											
KDR	3791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	55979581	55979581	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr4:55979581delA	ENST00000263923.4	-	7	1161	c.866delT	c.(865-867)ttgfs	p.L289fs		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	289	Ig-like C2-type 3.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGGTGCTCAAAAATTTCTT	0.433			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													154	147	149					4																	55979581		2203	4300	6503	SO:0001589	frameshift_variant	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.866delT	4.37:g.55979581delA	ENSP00000263923:p.Leu289fs		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Frame_Shift_Del	DEL	ENST00000263923.4	37	CCDS3497.1																																																																																				0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			-	55979581	A	-	55979581	7	5	441	1	0	1	0	1	0	0	0	0	8141	131	5	0	3300	0	KDR	4	55979581	Frame_Shift_Del	DEL	A	TCGA-BP-5192-01A-01D-1429-08	16671293	55979581	135174695	14	24122											
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	74005971	74005971	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr4:74005971A>T	ENST00000358602.4	-	15	2478	c.2362T>A	c.(2362-2364)Ttg>Atg	p.L788M	ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L675M	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	788					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L788M(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTGCTGGCAAATGGCTGCTG	0.468																																																1	Substitution - Missense(1)	kidney(1)											62	62	62					4																	74005971		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2362T>A	4.37:g.74005971A>T	ENSP00000351416:p.Leu788Met		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577153	0.45902	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811	T;T	0.68624	1.5;-0.34	5.86	5.86	0.93980	Ankyrin repeat-containing domain (1);	0.117881	0.38436	N	0.001697	T	0.60547	0.2277	L	0.42245	1.32	0.80722	D	1	B;B;B;B	0.25904	0.046;0.137;0.016;0.011	B;B;B;B	0.30316	0.012;0.114;0.008;0.011	T	0.59257	-0.7488	10	0.46703	T	0.11	.	12.4132	0.55480	0.8601:0.1399:0.0:0.0	.	309;788;788;675	B4DR08;O75179-2;O75179;E7EUV3	.;.;ANR17_HUMAN;.	M	788;788;675;788	ENSP00000351416:L788M;ENSP00000427151:L675M	ENSP00000351416:L788M	L	-	1	2	ANKRD17	74224835	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.051000	0.49885	2.367000	0.80283	0.528000	0.53228	TTG		0.468	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	74005971	A	T	74005971	3	4	441	1	0	0	0	0	1	0	0	0	646	11	1	5	5529	5	ANKRD17	4	74005971	Missense_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08	18026390	74005971	117148305	15	24123											
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	126411497	126411497	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr4:126411497C>T	ENST00000394329.3	+	17	13533	c.13520C>T	c.(13519-13521)gCc>gTc	p.A4507V	FAT4_ENST00000335110.5_Missense_Mutation_p.A2748V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4507					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A4507V(1)|p.A4450V(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGTGCCTGCCATCGTGGGC	0.587																																																2	Substitution - Missense(2)	kidney(2)											70	69	69					4																	126411497		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13520C>T	4.37:g.126411497C>T	ENSP00000377862:p.Ala4507Val		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192654	0.78902	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76186	-0.8;-1.0	5.17	5.17	0.71159	.	0.000000	0.34110	U	0.004257	T	0.67933	0.2946	L	0.58101	1.795	0.58432	D	0.999994	P;P;P	0.46142	0.873;0.799;0.873	B;B;B	0.40101	0.319;0.17;0.319	T	0.69296	-0.5182	10	0.02654	T	1	.	17.6678	0.88208	0.0:1.0:0.0:0.0	.	2748;4507;4506	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	4507;2748	ENSP00000377862:A4507V;ENSP00000335169:A2748V	ENSP00000335169:A2748V	A	+	2	0	FAT4	126630947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.797000	0.69087	2.395000	0.81488	0.561000	0.74099	GCC		0.587	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126411497	C	T	126411497	3	4	441	1	0	0	0	0	1	0	0	0	5694	739	26	2	13586	2	FAT4	4	126411497	Missense_Mutation	SNP	C	TCGA-BP-5192-01A-01D-1429-08	52405526	126411497	64742779	16	24124											
CDC25C	995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137665253	137665253	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr5:137665253A>T	ENST00000323760.6	-	3	556	c.278T>A	c.(277-279)cTt>cAt	p.L93H	CDC25C_ENST00000357274.3_Intron|CDC25C_ENST00000514555.1_Missense_Mutation_p.L93H|CDC25C_ENST00000348983.3_Intron|CDC25C_ENST00000415130.2_Intron|CDC25C_ENST00000356505.3_Missense_Mutation_p.L93H|CDC25C_ENST00000513970.1_Missense_Mutation_p.L93H	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	93					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)	p.L93H(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGTTTCATCAAGGTCTGCAGA	0.463																																																1	Substitution - Missense(1)	kidney(1)											168	167	167					5																	137665253		2203	4300	6503	SO:0001583	missense	995			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"Protein tyrosine phosphatases / Class III Cys-based PTPs", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1727	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 60"	157680	"cell division cycle 25C", "cell division cycle 25 homolog C (S. cerevisiae)", "cell division cycle 25 homolog C (S. pombe)"	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.278T>A	5.37:g.137665253A>T	ENSP00000321656:p.Leu93His		D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210510	0.39102	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	T;T;T;T;T;T	0.44881	0.91;2.23;0.91;2.23;0.91;0.91	4.48	1.99	0.26369	.	1.339110	0.05013	N	0.471402	T	0.32285	0.0824	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.18461	0.023;0.028;0.005;0.006	B;B;B;B	0.19666	0.015;0.026;0.007;0.012	T	0.37549	-0.9701	10	0.49607	T	0.09	-0.1524	3.8278	0.08861	0.709:0.0:0.1037:0.1873	.	110;110;93;93	G3V1P6;B4DX61;P30307-2;P30307	.;.;.;MPIP3_HUMAN	H	93;93;93;110;93;93;110	ENSP00000321656:L93H;ENSP00000348898:L93H;ENSP00000424795:L93H;ENSP00000425470:L93H;ENSP00000427251:L93H;ENSP00000427105:L110H	ENSP00000321656:L93H	L	-	2	0	CDC25C	137693152	0.551000	0.26497	0.996000	0.52242	0.994000	0.84299	0.326000	0.19646	0.746000	0.32786	0.383000	0.25322	CTT		0.463	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			T	137665253	A	T	137665253	3	4	441	1	0	0	0	0	1	0	0	0	3066	72	3	5	1191	5	CDC25C	5	137665253	Missense_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08		137665253	43250007	17	24125											
PSD2	84249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139193067	139193067	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr5:139193067C>T	ENST00000274710.3	+	3	750	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	182					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.P182L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTCACACCCCTCATCCAG	0.672																																																1	Substitution - Missense(1)	kidney(1)											37	41	40					5																	139193067		2203	4299	6502	SO:0001583	missense	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.545C>T	5.37:g.139193067C>T	ENSP00000274710:p.Pro182Leu		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514928	0.85389	.	.	ENSG00000146005	ENST00000274710	T	0.37058	1.22	3.99	3.99	0.46301	.	0.078492	0.50627	D	0.000113	T	0.55609	0.1931	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60642	-0.7223	10	0.87932	D	0	.	14.7866	0.69808	0.0:1.0:0.0:0.0	.	182	Q9BQI7	PSD2_HUMAN	L	182	ENSP00000274710:P182L	ENSP00000274710:P182L	P	+	2	0	PSD2	139173251	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	6.693000	0.74582	2.214000	0.71695	0.462000	0.41574	CCC		0.672	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		T	139193067	C	T	139193067	3	4	441	1	0	0	0	0	1	0	0	0	12652	623	22	2	551	2	PSD2	5	139193067	Missense_Mutation	SNP	C	TCGA-BP-5192-01A-01D-1429-08	1527814	139193067	41722193	18	24126											
PCDHA12	56137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140255065	140255065	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr5:140255065T>A	ENST00000398631.2	+	1	8	c.8T>A	c.(7-9)aTt>aAt	p.I3N	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	3					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I3N(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAATGGTGATTATCGGACCA	0.542																																					Pancreas(113;759 1672 13322 24104 50104)											1	Substitution - Missense(1)	kidney(1)											33	37	35					5																	140255065		2161	4292	6453	SO:0001583	missense	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.8T>A	5.37:g.140255065T>A	ENSP00000381628:p.Ile3Asn		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447588	0.26074	.	.	ENSG00000251664	ENST00000398631	T	0.50813	0.73	5.52	1.54	0.23209	.	.	.	.	.	T	0.24509	0.0594	N	0.11789	0.175	0.09310	N	1	B;B	0.30686	0.284;0.29	B;B	0.26693	0.047;0.072	T	0.14699	-1.0463	9	0.27082	T	0.32	.	6.2457	0.20815	0.0:0.1481:0.3648:0.4871	.	3;3	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	N	3	ENSP00000381628:I3N	ENSP00000381628:I3N	I	+	2	0	PCDHA12	140235249	.	.	0.010000	0.14722	0.030000	0.12068	.	.	0.374000	0.24650	0.533000	0.62120	ATT		0.542	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		A	140255065	T	A	140255065	3	1	441	1	0	0	0	0	1	0	0	0	11524	1493	52	5	10	5	PCDHA12	5	140255065	Missense_Mutation	SNP	T	TCGA-BP-5192-01A-01D-1429-08	1061998	140255065	40660195	19	24127											
PPARGC1B	133522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149216300	149216300	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr5:149216300G>A	ENST00000309241.5	+	8	2314	c.2282G>A	c.(2281-2283)cGt>cAt	p.R761H	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R697H|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R722H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R761H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	761					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.R761H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CATGAGATCCGTGCCAGCCTC	0.612																																																1	Substitution - Missense(1)	kidney(1)											97	99	98					5																	149216300		2203	4300	6503	SO:0001583	missense	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2282G>A	5.37:g.149216300G>A	ENSP00000312649:p.Arg761His		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543723	0.65198	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.41065	1.05;1.01;1.09;1.03	4.93	4.93	0.64822	.	0.075196	0.53938	D	0.000041	T	0.66597	0.2805	M	0.80332	2.49	0.34754	D	0.732075	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;P;D	0.66497	0.944;0.917;0.944;0.88;0.944	T	0.78578	-0.2150	10	0.87932	D	0	-13.651	18.5082	0.90905	0.0:0.0:1.0:0.0	.	740;740;722;761;761	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	H	722;761;761;697	ENSP00000353638:R722H;ENSP00000377855:R761H;ENSP00000312649:R761H;ENSP00000384403:R697H	ENSP00000312649:R761H	R	+	2	0	PPARGC1B	149196493	1.000000	0.71417	0.968000	0.41197	0.627000	0.37826	8.054000	0.89451	2.440000	0.82611	0.462000	0.41574	CGT		0.612	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		A	149216300	G	A	149216300	3	1	441	1	0	0	0	0	1	0	0	0	12303	1145	40	1	2319	1	PPARGC1B	5	149216300	Missense_Mutation	SNP	G	TCGA-BP-5192-01A-01D-1429-08	8961235	149216300	31698960	20	24128											
PHACTR1	221692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	13283726	13283726	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr6:13283726G>C	ENST00000379335.3	+	3	379	c.274G>C	c.(274-276)Gtg>Ctg	p.V92L	PHACTR1_ENST00000457702.2_Missense_Mutation_p.V383L|PHACTR1_ENST00000379329.1_Missense_Mutation_p.V92L|PHACTR1_ENST00000332995.7_Missense_Mutation_p.V528L|RP1-257A7.4_ENST00000606150.1_RNA|RP1-257A7.4_ENST00000399446.2_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	528					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.E362D(1)|p.V528L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTACGTGGAGGTGGCTGACGC	0.597																																																2	Substitution - Missense(2)	kidney(2)											112	126	121					6																	13283726		2084	4210	6294	SO:0001583	missense	221692			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.274G>C	6.37:g.13283726G>C	ENSP00000368639:p.Val92Leu		A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379335.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.333621|4.333621	0.81801|0.81801	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329	.|T;T	.|0.57273	.|0.41;0.6	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47544|0.47544	0.1451|0.1451	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	.|B	.|0.20887	.|0.049	.|B	.|0.22880	.|0.042	T|T	0.49854|0.49854	-0.8895|-0.8895	5|10	.|0.72032	.|D	.|0.01	-18.988|-18.988	19.0064|19.0064	0.92852|0.92852	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|528	.|Q9C0D0	.|PHAR1_HUMAN	S|L	362|528;383;92;92	.|ENSP00000329880:V528L;ENSP00000397669:V383L	.|ENSP00000329880:V528L	R|V	+|+	3|1	2|0	PHACTR1|PHACTR1	13391705|13391705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	AGG|GTG		0.597	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000039878.1	XM_166420		C	13283726	G	C	13283726	3	2	441	1	0	0	0	0	1	0	0	0	11811	1261	44	4	1624	4	PHACTR1	6	13283726	Missense_Mutation	SNP	G	TCGA-BP-5192-01A-01D-1429-08		13283726	157831341	21	24129											
HLA-DRA	3122	broad.mit.edu;hgsc.bcm.edu	37	6	32410977	32410978	+	Frame_Shift_Del	DEL	CT	CT	-	rs61117681	byFrequency	TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr6:32410977_32410978delCT	ENST00000395388.2	+	3	453_454	c.344_345delCT	c.(343-345)actfs	p.T115fs	HLA-DRA_ENST00000374982.5_Intron	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	115	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCAGAGGTAACTGTGCTCACAA	0.52									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																																							0																																										SO:0001589	frameshift_variant	3122	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000395388.2:c.344_345delCT	6.37:g.32410977_32410978delCT	ENSP00000378786:p.Thr115fs		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Frame_Shift_Del	DEL	ENST00000395388.2	37	CCDS4750.1																																																																																				0.52	HLA-DRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076586.2	NM_019111		-	32410978	CT	-	32410977	7	5	441	1	0	1	0	1	0	0	0	0	7209	565	20	0	354	0	HLA-DRA	6	32410977	Frame_Shift_Del	DEL	CT	TCGA-BP-5192-01A-01D-1429-08	19127251	32410977	138704090	22	24130											
MRPL14	64928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44081767	44081767	+	Missense_Mutation	SNP	G	G	A	rs368426589		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr6:44081767G>A	ENST00000372014.3	-	3	382	c.251C>T	c.(250-252)gCg>gTg	p.A84V		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	84					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A84V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CACAATGAGCGCCTTTTTCTT	0.562																																																1	Substitution - Missense(1)	kidney(1)						G	VAL/ALA	0,4406		0,0,2203	166	168	167		251	4.9	0.9	6		167	2,8598	2.2+/-6.3	0,2,4298	no	missense	MRPL14	NM_032111.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	84/146	44081767	2,13004	2203	4300	6503	SO:0001583	missense	64928			AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"Mitochondrial ribosomal proteins / large subunits"	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.251C>T	6.37:g.44081767G>A	ENSP00000361084:p.Ala84Val		B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899638	0.91962	0.0	2.33E-4	ENSG00000180992	ENST00000372014	.	.	.	5.79	4.92	0.64577	Ribosomal protein L14 domain (2);	0.049568	0.85682	N	0.000000	T	0.72277	0.3440	M	0.90483	3.12	0.80722	D	1	D	0.63046	0.992	P	0.53313	0.723	T	0.80623	-0.1300	9	0.72032	D	0.01	-1.2752	16.0824	0.81014	0.0:0.1339:0.8661:0.0	.	84	Q6P1L8	RM14_HUMAN	V	84	.	ENSP00000361084:A84V	A	-	2	0	MRPL14	44189745	1.000000	0.71417	0.938000	0.37757	0.863000	0.49368	9.858000	0.99539	1.433000	0.47394	0.561000	0.74099	GCG		0.562	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		A	44081767	G	A	44081767	3	1	441	1	0	0	0	0	1	0	0	0	9781	1087	38	1	190	1	MRPL14	6	44081767	Missense_Mutation	SNP	G	TCGA-BP-5192-01A-01D-1429-08	11670790	44081767	127033300	23	24131											
CSMD1	64478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	3566004	3566004	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr8:3566004G>A	ENST00000520002.1	-	7	1496	c.941C>T	c.(940-942)gCg>gTg	p.A314V	CSMD1_ENST00000537824.1_Missense_Mutation_p.A314V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A314V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A314V|CSMD1_ENST00000542608.1_Missense_Mutation_p.A314V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A314V|CSMD1_ENST00000539096.1_Missense_Mutation_p.A314V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	314						integral component of membrane (GO:0016021)		p.A314V(1)|p.A42V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAACTCAATCGCCTTTTTCAC	0.433																																																2	Substitution - Missense(2)	kidney(2)											79	78	78					8																	3566004		1954	4163	6117	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.941C>T	8.37:g.3566004G>A	ENSP00000430733:p.Ala314Val		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.099838	0.76983	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.26223	1.75;1.86;1.9;1.76;2.2	5.54	5.54	0.83059	.	.	.	.	.	T	0.40119	0.1104	L	0.40543	1.245	0.45239	D	0.998244	D	0.64830	0.994	D	0.63877	0.919	T	0.02683	-1.1124	9	0.27082	T	0.32	.	17.2539	0.87050	0.0:0.0:1.0:0.0	.	314	E5RIG2	.	V	314;314;176;314;314;314	ENSP00000383047:A314V;ENSP00000430733:A314V;ENSP00000441462:A314V;ENSP00000446243:A314V;ENSP00000441675:A314V	ENSP00000320445:A176V	A	-	2	0	CSMD1	3553412	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	7.579000	0.82511	2.580000	0.87095	0.650000	0.86243	GCG		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3566004	G	A	3566004	3	1	441	1	0	0	0	0	1	0	0	0	3946	1087	38	1	9822	1	CSMD1	8	3566004	Missense_Mutation	SNP	G	TCGA-BP-5192-01A-01D-1429-08		3566004	142798018	24	24132											
WHSC1L1	54904	hgsc.bcm.edu;ucsc.edu	37	8	38139060	38139060	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr8:38139060delT	ENST00000317025.8	-	20	4060	c.3543delA	c.(3541-3543)gaafs	p.E1183fs	WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.E1183fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.E1134fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1183	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E1181E(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCATTCTTCTTCATCAATTA	0.308			T	NUP98	AML																																		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	1	Substitution - coding silent(1)	kidney(1)											109	96	100					8																	38139060		1837	4087	5924	SO:0001589	frameshift_variant	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3543delA	8.37:g.38139060delT	ENSP00000313983:p.Glu1183fs		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Del	DEL	ENST00000317025.8	37	CCDS43729.1																																																																																				0.308	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		-	38139060	T	-	38139060	7	5	441	1	0	1	0	1	0	0	0	0	17368	1606	56	0	790	0	WHSC1L1	8	38139060	Frame_Shift_Del	DEL	T	TCGA-BP-5192-01A-01D-1429-08	34573056	38139060	108224962	25	24133											
KCNB2	9312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	73480522	73480522	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr8:73480522A>G	ENST00000523207.1	+	2	1141	c.553A>G	c.(553-555)Aaa>Gaa	p.K185E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	185					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.K185E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTTGCTGGAGAAACCTAACTC	0.458																																																1	Substitution - Missense(1)	kidney(1)											76	81	79					8																	73480522		2200	4299	6499	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.553A>G	8.37:g.73480522A>G	ENSP00000430846:p.Lys185Glu		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943947	0.73672	.	.	ENSG00000182674	ENST00000523207	D	0.96885	-4.16	5.77	5.77	0.91146	.	0.331813	0.21579	U	0.072262	D	0.94666	0.8280	L	0.50919	1.6	0.80722	D	1	B	0.25441	0.126	B	0.25987	0.065	D	0.92633	0.6118	10	0.54805	T	0.06	.	16.068	0.80903	1.0:0.0:0.0:0.0	.	185	Q92953	KCNB2_HUMAN	E	185	ENSP00000430846:K185E	ENSP00000430846:K185E	K	+	1	0	KCNB2	73643076	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	9.287000	0.95975	2.326000	0.78906	0.533000	0.62120	AAA		0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		G	73480522	A	G	73480522	3	3	441	1	0	0	0	0	1	0	0	0	8015	247	9	3	555	3	KCNB2	8	73480522	Missense_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08	35341462	73480522	72883500	26	24134											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113347652	113347652	+	Silent	SNP	G	G	T	rs113449703		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr8:113347652G>T	ENST00000297405.5	-	45	7315	c.7071C>A	c.(7069-7071)acC>acA	p.T2357T	CSMD3_ENST00000352409.3_Silent_p.T2287T|CSMD3_ENST00000455883.2_Silent_p.T2253T|CSMD3_ENST00000343508.3_Silent_p.T2317T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2357	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2317T(1)|p.T2357T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCCAAAGCGGTATTGCCAC	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - coding silent(2)	kidney(2)											132	119	124					8																	113347652		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7071C>A	8.37:g.113347652G>T			Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113347652	G	T	113347652	2	4	441	1	0	0	0	0	0	0	0	1	3948	1103	39	4		4	CSMD3	8	113347652	Silent	SNP	G	TCGA-BP-5192-01A-01D-1429-08	39867130	113347652	33016370	27	24135											
LRRC24	441381	broad.mit.edu;hgsc.bcm.edu	37	8	145748563	145748563	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr8:145748563C>G	ENST00000529415.2	-	5	955	c.838G>C	c.(838-840)Gcc>Ccc	p.A280P	LRRC24_ENST00000533758.1_Missense_Mutation_p.A277P|LRRC14_ENST00000528528.1_3'UTR|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	280	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.A280P(1)		breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTTGGCAGGCAACCCGCAGG	0.677																																																1	Substitution - Missense(1)	kidney(1)											13	14	14					8																	145748563		2177	4285	6462	SO:0001583	missense	441381			AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.838G>C	8.37:g.145748563C>G	ENSP00000434849:p.Ala280Pro			Missense_Mutation	SNP	ENST00000529415.2	37	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535449	0.64972	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.67698	-0.28;-0.28	4.73	2.75	0.32379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.358136	0.30142	N	0.010307	T	0.54095	0.1837	N	0.05306	-0.075	0.37415	D	0.913416	D;D	0.60575	0.985;0.988	P;P	0.61658	0.827;0.892	T	0.59440	-0.7454	10	0.49607	T	0.09	.	3.5869	0.07974	0.2118:0.5764:0.0:0.2118	.	277;280	G3V1D8;Q50LG9	.;LRC24_HUMAN	P	280;277	ENSP00000434849:A280P;ENSP00000435653:A277P	ENSP00000434849:A280P	A	-	1	0	LRRC24	145719371	0.949000	0.32298	0.953000	0.39169	0.949000	0.60115	1.821000	0.39041	1.212000	0.43366	0.561000	0.74099	GCC		0.677	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		G	145748563	C	G	145748563	3	3	441	1	0	0	0	0	1	0	0	0	8981	710	25	4	707	4	LRRC24	8	145748563	Missense_Mutation	SNP	C	TCGA-BP-5192-01A-01D-1429-08	32400911	145748563	615459	28	24136											
NPR2	4882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35808676	35808678	+	In_Frame_Del	DEL	TAC	TAC	-	rs201806512		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	TAC	TAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr9:35808676_35808678delTAC	ENST00000342694.2	+	19	3138_3140	c.2883_2885delTAC	c.(2881-2886)catact>cat	p.T962del	SPAG8_ENST00000340291.2_Intron|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	962	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TAGGGGTCCATACTGGTAAGGCT	0.547																																																0																																										SO:0001651	inframe_deletion	4882			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2883_2885delTAC	9.37:g.35808676_35808678delTAC	ENSP00000341083:p.Thr962del		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	In_Frame_Del	DEL	ENST00000342694.2	37	CCDS6590.1																																																																																				0.547	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			-	35808678	TAC	-	35808676	7	5	441	1	0	1	0	1	0	0	0	0	10597	1403	49	0	2957	0	NPR2	9	35808676	In_Frame_Del	DEL	TAC	TCGA-BP-5192-01A-01D-1429-08		35808676	105404755	29	24137											
BICD2	23299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95491475	95491475	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr9:95491475T>A	ENST00000375512.3	-	2	351	c.284A>T	c.(283-285)gAc>gTc	p.D95V	BICD2_ENST00000356884.6_Missense_Mutation_p.D95V	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	95					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.D95V(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCTCTCTCCGTCAGCAGCCAC	0.597																																																1	Substitution - Missense(1)	kidney(1)											86	74	78					9																	95491475		2203	4300	6503	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.284A>T	9.37:g.95491475T>A	ENSP00000364662:p.Asp95Val		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447247	0.84101	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.54279	0.58;0.58	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.97;0.982	T	0.70846	-0.4761	10	0.34782	T	0.22	-30.87	13.4703	0.61278	0.0:0.0:0.0:1.0	.	95;95	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	V	95	ENSP00000349351:D95V;ENSP00000364662:D95V	ENSP00000349351:D95V	D	-	2	0	BICD2	94531296	1.000000	0.71417	0.263000	0.24496	0.887000	0.51463	7.819000	0.86621	2.126000	0.65437	0.533000	0.62120	GAC		0.597	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		A	95491475	T	A	95491475	3	1	441	1	0	0	0	0	1	0	0	0	1429	1667	58	5	2317	5	BICD2	9	95491475	Missense_Mutation	SNP	T	TCGA-BP-5192-01A-01D-1429-08	59682799	95491475	45721956	30	24138											
STXBP1	6812	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130413898	130413898	+	Silent	SNP	G	G	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr9:130413898G>T	ENST00000373299.1	+	2	169	c.54G>T	c.(52-54)gtG>gtT	p.V18V	STXBP1_ENST00000373302.3_Silent_p.V18V	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	18					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)	p.V18V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TGCATGATGTGATAAAGAAGG	0.383																																																2	Substitution - coding silent(2)	kidney(2)											127	126	127					9																	130413898		2203	4300	6503	SO:0001819	synonymous_variant	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.54G>T	9.37:g.130413898G>T			B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	ENST00000373299.1	37	CCDS35146.1																																																																																				0.383	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		T	130413898	G	T	130413898	2	4	441	1	0	0	0	0	0	0	0	1	15357	1277	45	4		4	STXBP1	9	130413898	Silent	SNP	G	TCGA-BP-5192-01A-01D-1429-08	34922423	130413898	10799533	31	24139											
CAMSAP1	157922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	138713812	138713812	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr9:138713812T>G	ENST00000389532.4	-	11	2759	c.2695A>C	c.(2695-2697)Atg>Ctg	p.M899L	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.M621L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.M910L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	899					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.M899L(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGCGCCTCCATCTTCTTCTTC	0.642																																																1	Substitution - Missense(1)	kidney(1)											49	56	54					9																	138713812		2201	4300	6501	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2695A>C	9.37:g.138713812T>G	ENSP00000374183:p.Met899Leu		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	T	14.66	2.601568	0.46423	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.69806	-0.43;-0.43;-0.43	5.11	-1.69	0.08186	.	0.186450	0.64402	D	0.000003	T	0.56499	0.1989	M	0.67953	2.075	0.30530	N	0.767485	B;B	0.31318	0.319;0.036	B;B	0.20767	0.021;0.031	T	0.55042	-0.8202	10	0.87932	D	0	-23.6242	10.1302	0.42674	0.0:0.3493:0.0:0.6507	.	899;910	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	899;621;910	ENSP00000374183:M899L;ENSP00000312463:M621L;ENSP00000386420:M910L	ENSP00000312463:M621L	M	-	1	0	CAMSAP1	137853633	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	2.746000	0.47467	-0.479000	0.06813	-0.256000	0.11100	ATG		0.642	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		G	138713812	T	G	138713812	3	3	441	1	0	0	0	0	1	0	0	0	2613	1435	50	5	2141	5	CAMSAP1	9	138713812	Missense_Mutation	SNP	T	TCGA-BP-5192-01A-01D-1429-08	8299914	138713812	2499619	32	24140											
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61830794	61830794	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr10:61830794A>G	ENST00000280772.2	-	37	10036	c.9845T>C	c.(9844-9846)aTt>aCt	p.I3282T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3282					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.I3282T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTGACTTCAATCATGTCAAC	0.488																																																1	Substitution - Missense(1)	kidney(1)											187	180	182					10																	61830794		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9845T>C	10.37:g.61830794A>G	ENSP00000280772:p.Ile3282Thr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	4.328	0.060337	0.08339	.	.	ENSG00000151150	ENST00000280772	T	0.61980	0.06	5.48	4.15	0.48705	.	0.326738	0.22043	N	0.065430	T	0.26484	0.0647	N	0.01168	-0.975	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23332	-1.0191	10	0.07990	T	0.79	.	7.4129	0.27027	0.7944:0.0:0.2056:0.0	.	3282	Q12955	ANK3_HUMAN	T	3282	ENSP00000280772:I3282T	ENSP00000280772:I3282T	I	-	2	0	ANK3	61500800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.144000	0.50616	2.089000	0.63090	0.459000	0.35465	ATT		0.488	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		G	61830794	A	G	61830794	3	3	441	1	0	0	0	0	1	0	0	0	622	101	4	3	3629	3	ANK3	10	61830794	Missense_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08		61830794	73703953	33	24141											
COL17A1	1308	hgsc.bcm.edu;ucsc.edu	37	10	105815678	105815683	+	In_Frame_Del	DEL	CCATGC	CCATGC	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	CCATGC	CCATGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr10:105815678_105815683delCCATGC	ENST00000353479.5	-	18	1834_1839	c.1544_1549delGCATGG	c.(1543-1551)agcatggat>aat	p.515_517SMD>N	COL17A1_ENST00000369733.3_In_Frame_Del_p.515_517SMD>N|COL17A1_ENST00000480127.1_5'UTR	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	515	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTATTCTATCCATGCTGTCCCCATA	0.583																																																0																																										SO:0001651	inframe_deletion	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1544_1549delGCATGG	10.37:g.105815678_105815683delCCATGC	ENSP00000340937:p.Ser515_Asp517delinsAsn		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	In_Frame_Del	DEL	ENST00000353479.5	37	CCDS7554.1																																																																																				0.583	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		-	105815683	CCATGC	-	105815678	7	5	441	1	0	1	0	1	0	0	0	0	3676	855	30	0	3100	0	COL17A1	10	105815678	In_Frame_Del	DEL	CCATGC	TCGA-BP-5192-01A-01D-1429-08	43984884	105815678	29719069	34	24142											
TECTB	6975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	114046095	114046095	+	Silent	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr10:114046095G>A	ENST00000369422.3	+	4	429	c.429G>A	c.(427-429)gtG>gtA	p.V143V		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	143	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.V143V(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CTGTTCACGTGAAGAACGGGA	0.498																																																1	Substitution - coding silent(1)	kidney(1)											133	112	119					10																	114046095		2203	4300	6503	SO:0001819	synonymous_variant	6975			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.429G>A	10.37:g.114046095G>A			Q5VW53	Silent	SNP	ENST00000369422.3	37	CCDS7571.1																																																																																				0.498	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		A	114046095	G	A	114046095	2	1	441	1	0	0	0	0	0	0	0	1	15753	1277	45	2		2	TECTB	10	114046095	Silent	SNP	G	TCGA-BP-5192-01A-01D-1429-08	8230417	114046095	21488652	35	24143											
GPR26	2849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	125426346	125426346	+	Silent	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr10:125426346G>A	ENST00000284674.1	+	1	476	c.423G>A	c.(421-423)gcG>gcA	p.A141A		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A141A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CAGCCGCCGCGCTCGCCCTGT	0.711																																																1	Substitution - coding silent(1)	kidney(1)											11	12	11					10																	125426346		2186	4260	6446	SO:0001819	synonymous_variant	2849				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.423G>A	10.37:g.125426346G>A			Q2M2E2	Silent	SNP	ENST00000284674.1	37	CCDS7636.1																																																																																				0.711	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			A	125426346	G	A	125426346	2	1	441	1	0	0	0	0	0	0	0	1	6686	1074	38	1		1	GPR26	10	125426346	Silent	SNP	G	TCGA-BP-5192-01A-01D-1429-08	11380251	125426346	10108401	36	24144											
PTPRJ	5795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	48152101	48152101	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr11:48152101A>G	ENST00000418331.2	+	8	1800	c.1448A>G	c.(1447-1449)cAg>cGg	p.Q483R	PTPRJ_ENST00000440289.2_Missense_Mutation_p.Q483R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	483	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.Q483R(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAATCATTTCAGATGCATATC	0.488																																																2	Substitution - Missense(2)	kidney(2)											100	90	93					11																	48152101		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1448A>G	11.37:g.48152101A>G	ENSP00000400010:p.Gln483Arg		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	2.554	-0.303373	0.05495	.	.	ENSG00000149177	ENST00000418331;ENST00000440289	T;T	0.52526	0.66;0.66	5.71	-4.95	0.03048	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23370	0.0565	N	0.11427	0.14	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.23154	-1.0196	9	0.23891	T	0.37	.	9.8037	0.40779	0.2028:0.0:0.6658:0.1315	.	483;483	Q12913;Q6P4H4	PTPRJ_HUMAN;.	R	483	ENSP00000400010:Q483R;ENSP00000409733:Q483R	ENSP00000400010:Q483R	Q	+	2	0	PTPRJ	48108677	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.979000	0.03774	-0.835000	0.04234	0.533000	0.62120	CAG		0.488	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			G	48152101	A	G	48152101	3	3	441	1	0	0	0	0	1	0	0	0	12810	188	7	3	1478	3	PTPRJ	11	48152101	Missense_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08		48152101	86854415	37	24145											
DDB1	1642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61070127	61070127	+	Silent	SNP	T	T	C			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr11:61070127T>C	ENST00000301764.7	-	24	3436	c.3039A>G	c.(3037-3039)gtA>gtG	p.V1013V	DDB1_ENST00000538470.1_Silent_p.V60V|DDB1_ENST00000451943.2_5'UTR|DDB1_ENST00000450997.2_Silent_p.V324V	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1013	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.V1013V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GATTCTGCATTACCAGAGAGC	0.592								Nucleotide excision repair (NER)																																								1	Substitution - coding silent(1)	kidney(1)											141	144	143					11																	61070127		2203	4299	6502	SO:0001819	synonymous_variant	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3039A>G	11.37:g.61070127T>C			A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	CCDS31576.1																																																																																				0.592	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		C	61070127	T	C	61070127	2	2	441	1	0	0	0	0	0	0	0	1	4325	1741	61	3		3	DDB1	11	61070127	Silent	SNP	T	TCGA-BP-5192-01A-01D-1429-08	12918026	61070127	73936389	38	24146											
RACGAP1	29127	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50384068	50384068	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr12:50384068A>G	ENST00000427314.2	-	19	2105	c.1882T>C	c.(1882-1884)Tct>Cct	p.S628P	RACGAP1_ENST00000434422.1_Missense_Mutation_p.S628P|RACGAP1_ENST00000312377.5_Missense_Mutation_p.S628P|RACGAP1_ENST00000547905.1_Missense_Mutation_p.S628P|RACGAP1_ENST00000454520.2_Missense_Mutation_p.S628P|RACGAP1_ENST00000551016.1_Missense_Mutation_p.S628P|RACGAP1_ENST00000548961.1_Intron	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1									p.S628P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						AGCATTGGAGAAGCAAAAAAG	0.408																																																1	Substitution - Missense(1)	kidney(1)											132	117	122					12																	50384068		2203	4300	6503	SO:0001583	missense	29127				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1882T>C	12.37:g.50384068A>G	ENSP00000404190:p.Ser628Pro			Missense_Mutation	SNP	ENST00000427314.2	37	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785090	0.70222	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	4.69	3.52	0.40303	.	0.166652	0.56097	D	0.000038	T	0.50222	0.1603	M	0.71036	2.16	0.58432	D	0.999993	D	0.56746	0.977	P	0.55785	0.784	T	0.53549	-0.8423	10	0.87932	D	0	-4.6206	11.3845	0.49776	0.8423:0.1577:0.0:0.0	.	628	Q9H0H5	RGAP1_HUMAN	P	628	ENSP00000404190:S628P;ENSP00000309871:S628P;ENSP00000413241:S628P;ENSP00000404808:S628P;ENSP00000449374:S628P;ENSP00000449370:S628P	ENSP00000309871:S628P	S	-	1	0	RACGAP1	48670335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.602000	0.67612	0.730000	0.32425	0.460000	0.39030	TCT		0.408	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		G	50384068	A	G	50384068	3	3	441	1	0	0	0	0	1	0	0	0	12983	246	9	3	20	3	RACGAP1	12	50384068	Missense_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08		50384068	83467827	39	24147											
TENC1	23371	hgsc.bcm.edu;ucsc.edu	37	12	53453522	53453531	+	Frame_Shift_Del	DEL	GCCTACAGCA	GCCTACAGCA	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	GCCTACAGCA	GCCTACAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr12:53453522_53453531delGCCTACAGCA	ENST00000314250.6	+	18	2387_2396	c.2097_2106delGCCTACAGCA	c.(2095-2106)ctgcctacagcafs	p.LPTA699fs	TENC1_ENST00000379902.3_Frame_Shift_Del_p.LPTA575fs|TENC1_ENST00000451358.1_Splice_Site|TENC1_ENST00000546602.1_Frame_Shift_Del_p.LPTA699fs|TENC1_ENST00000552570.1_Frame_Shift_Del_p.LPTA699fs|TENC1_ENST00000314276.3_Frame_Shift_Del_p.LPTA709fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.LPTA699fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	699					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						AGCTGGCGCTGCCTACAGCAGCCTTGTATG	0.676																																																0																																										SO:0001589	frameshift_variant	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2097_2106delGCCTACAGCA	12.37:g.53453522_53453531delGCCTACAGCA	ENSP00000319684:p.Leu699fs		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Frame_Shift_Del	DEL	ENST00000314250.6	37	CCDS8843.1																																																																																				0.676	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		-	53453531	GCCTACAGCA	-	53453522	7	5	441	1	0	1	0	1	0	0	0	0	15763	1306	46	0	2276	0	TENC1	12	53453522	Frame_Shift_Del	DEL	GCCTACAGCA	TCGA-BP-5192-01A-01D-1429-08	3069454	53453522	80398373	40	24148											
KLC1	3831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	104123884	104123884	+	Splice_Site	DEL	T	T	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr14:104123884delT	ENST00000348520.6	+	3	582	c.263delT	c.(262-264)gtt>gt	p.V88fs	KLC1_ENST00000347839.6_Splice_Site_p.V88fs|KLC1_ENST00000554280.1_Splice_Site_p.V88fs|KLC1_ENST00000553286.1_Splice_Site_p.V88fs|KLC1_ENST00000246489.7_Splice_Site_p.V88fs|KLC1_ENST00000557575.1_Splice_Site_p.V88fs|KLC1_ENST00000380038.3_Splice_Site_p.V88fs|KLC1_ENST00000557450.1_Splice_Site_p.V88fs|RP11-73M18.2_ENST00000472726.2_Splice_Site_p.V260fs|KLC1_ENST00000452929.2_Splice_Site_p.V88fs|KLC1_ENST00000334553.6_Splice_Site_p.V88fs|KLC1_ENST00000389744.4_Splice_Site_p.V88fs|KLC1_ENST00000445352.4_Splice_Site_p.V88fs|KLC1_ENST00000555836.1_Splice_Site_p.V88fs	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	88					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TCTGCTCAGGTTATGATGGCT	0.552																																																0													89	66	74					14																	104123884		2203	4300	6503	SO:0001630	splice_region_variant	3831			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"Tetratricopeptide (TTC) repeat domain containing"	6387	protein-coding gene	gene with protein product		600025	"kinesin 2 60/70kDa", "kinesin 2"	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.262-1T>-	14.37:g.104123884delT			A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Frame_Shift_Del	DEL	ENST00000348520.6	37	CCDS41996.1																																																																																				0.552	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552	Frame_Shift_Del	-	104123884	T	-	104123884	8	5	441	1	0	1	0	1	0	0	1	0	8335	1739	60	0	269	0	KLC1	14	104123884	Splice_Site	DEL	T	TCGA-BP-5192-01A-01D-1429-08		104123884	3225656	41	24149											
DISP2	85455	broad.mit.edu	37	15	40660395	40660395	+	Silent	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr15:40660395G>A	ENST00000267889.3	+	8	2169	c.2082G>A	c.(2080-2082)ctG>ctA	p.L694L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	694					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.L694L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCCAGCGCCTGCTGCCCTGCG	0.736																																																1	Substitution - coding silent(1)	kidney(1)											12	12	12					15																	40660395		2187	4273	6460	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2082G>A	15.37:g.40660395G>A			Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																				0.736	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		A	40660395	G	A	40660395	2	1	441	1	0	0	0	0	0	0	0	1	4542	1306	46	2		2	DISP2	15	40660395	Silent	SNP	G	TCGA-BP-5192-01A-01D-1429-08		40660395	61870997	42	24150											
ZNF280D	54816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56993407	56993407	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr15:56993407A>G	ENST00000267807.7	-	5	421	c.205T>C	c.(205-207)Tat>Cat	p.Y69H	ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000558320.1_Missense_Mutation_p.Y69H|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y56H|ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y56H	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	69					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y69H(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CCCCTTGAATATGAGCTGGGG	0.254																																																1	Substitution - Missense(1)	kidney(1)											14	14	14					15																	56993407		2184	4269	6453	SO:0001583	missense	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.205T>C	15.37:g.56993407A>G	ENSP00000267807:p.Tyr69His		A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	A	8.686	0.906273	0.17760	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.21932	1.98	5.37	4.25	0.50352	.	4.700340	0.00659	N	0.000585	T	0.15869	0.0382	N	0.14661	0.345	0.80722	D	1	B;B;B	0.14012	0.009;0.005;0.005	B;B;B	0.21917	0.037;0.009;0.025	T	0.14755	-1.0461	10	0.15499	T	0.54	-13.1912	8.9053	0.35519	0.8395:0.0:0.1605:0.0	.	69;132;69	Q7Z6J5;B4DHL1;Q6N043	.;.;Z280D_HUMAN	H	69;56	ENSP00000267807:Y69H	ENSP00000267807:Y69H	Y	-	1	0	ZNF280D	54780699	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.854000	0.48325	0.995000	0.38917	0.477000	0.44152	TAT		0.254	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		G	56993407	A	G	56993407	3	3	441	1	0	0	0	0	1	0	0	0	17822	449	16	3	2902	3	ZNF280D	15	56993407	Missense_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08	16333012	56993407	45537985	43	24151											
MSLNL	401827	broad.mit.edu;hgsc.bcm.edu	37	16	823128	823128	+	Splice_Site	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr16:823128C>T	ENST00000442466.1	-	9	1086		c.e9+1		MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Splice_Site			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.?(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGCCGTGCACCTGTGCGAGC	0.657																																																1	Unknown(1)	kidney(1)											48	58	55					16																	823128		2100	4221	6321	SO:0001630	splice_region_variant	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1086+1G>A	16.37:g.823128C>T				Splice_Site	SNP	ENST00000442466.1	37		.	.	.	.	.	.	.	.	.	.	C	9.841	1.191137	0.21954	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6881	0.62529	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MSLNL	763129	0.282000	0.24268	0.886000	0.34754	0.109000	0.19521	0.827000	0.27421	2.323000	0.78572	0.543000	0.68304	.		0.657	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	Intron	T	823128	C	T	823128	5	4	441	1	0	0	0	0	0	0	1	0	9884	521	18	2	1049	2	MSLNL	16	823128	Splice_Site	SNP	C	TCGA-BP-5192-01A-01D-1429-08		823128	89531625	44	24152											
LRRC50	123872	broad.mit.edu;hgsc.bcm.edu	37	16	84211446	84211446	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr16:84211446A>G	ENST00000378553.5	+	12	2301	c.2177A>G	c.(2176-2178)tAg>tGg	p.*726W	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	0					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.*726W(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AAAGCATCATAGTTTTCCCCA	0.507																																																1	Nonstop extension(1)	kidney(1)											92	82	85					16																	84211446		2200	4300	6500	SO:0001578	stop_lost	0			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.2177A>G	16.37:g.84211446A>G	ENSP00000367815:p.*726Trpext*?		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	A	0.515	-0.864786	0.02590	.	.	ENSG00000154099	ENST00000378553	.	.	.	1.4	-2.8	0.05823	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6984	0.08374	0.2927:0.3628:0.3446:0.0	.	.	.	.	W	726	.	.	X	+	2	0	DNAAF1	82768947	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.848000	0.01673	-1.732000	0.01359	-0.376000	0.06991	TAG		0.507	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		G	84211446	A	G	84211446	4	3	441	1	0	0	0	0	0	0	0	0	9011	433	15	3	2223	3	LRRC50	16	84211446	Nonstop_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08	83388318	84211446	6143307	45	24153											
ASB16	92591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42249555	42249555	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr17:42249555A>G	ENST00000293414.1	+	2	527	c.443A>G	c.(442-444)cAt>cGt	p.H148R		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	148					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.H148R(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTGCCTTGCATGAGGCCTGT	0.637																																																1	Substitution - Missense(1)	kidney(1)											86	74	78					17																	42249555		2203	4300	6503	SO:0001583	missense	92591			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.443A>G	17.37:g.42249555A>G	ENSP00000293414:p.His148Arg		B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343516	0.61073	.	.	ENSG00000161664	ENST00000293414	T	0.70399	-0.48	5.47	5.47	0.80525	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	M	0.78801	2.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85871	0.1416	10	0.72032	D	0.01	-12.1168	14.662	0.68879	1.0:0.0:0.0:0.0	.	148	Q96NS5	ASB16_HUMAN	R	148	ENSP00000293414:H148R	ENSP00000293414:H148R	H	+	2	0	ASB16	39605081	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	6.626000	0.74253	2.300000	0.77407	0.533000	0.62120	CAT		0.637	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			G	42249555	A	G	42249555	3	3	441	1	0	0	0	0	1	0	0	0	1020	217	8	3	449	3	ASB16	17	42249555	Missense_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08		42249555	38945655	46	24154											
C17orf71	55181	hgsc.bcm.edu;ucsc.edu	37	17	57292183	57292194	+	In_Frame_Del	DEL	ACCATGTCCGGT	ACCATGTCCGGT	-	rs138640712|rs369571157	byFrequency	TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	ACCATGTCCGGT	ACCATGTCCGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr17:57292183_57292194delACCATGTCCGGT	ENST00000543872.2	+	5	3060_3071	c.2796_2807delACCATGTCCGGT	c.(2794-2808)ccaccatgtccggta>cca	p.PCPV933del	CTD-2510F5.6_ENST00000577660.1_In_Frame_Del_p.PCPV52del|SMG8_ENST00000300917.5_In_Frame_Del_p.PCPV933del			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	933					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CAGGCCCACCACCATGTCCGGTATTCTACCCA	0.415																																																0																																										SO:0001651	inframe_deletion	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2796_2807delACCATGTCCGGT	17.37:g.57292183_57292194delACCATGTCCGGT	ENSP00000438748:p.Pro933_Val936del		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	In_Frame_Del	DEL	ENST00000543872.2	37	CCDS11615.1																																																																																				0.415	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		-	57292194	ACCATGTCCGGT	-	57292183	7	5	441	1	0	1	0	1	0	0	0	0	1880	146	6	0	2810	0	C17orf71	17	57292183	In_Frame_Del	DEL	ACCATGTCCGGT	TCGA-BP-5192-01A-01D-1429-08	15042628	57292183	23903027	47	24155											
MYOM1	8736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	3089566	3089566	+	Silent	SNP	T	T	C			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr18:3089566T>C	ENST00000356443.4	-	28	4371	c.4038A>G	c.(4036-4038)gaA>gaG	p.E1346E	MYOM1_ENST00000400569.3_Silent_p.E1346E|MYOM1_ENST00000261606.7_Silent_p.E1250E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1346					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.E1346E(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCGCTGGAATTCAGCTTCTT	0.358																																																1	Substitution - coding silent(1)	kidney(1)											66	60	62					18																	3089566		1814	4076	5890	SO:0001819	synonymous_variant	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4038A>G	18.37:g.3089566T>C			Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																				0.358	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		C	3089566	T	C	3089566	2	2	441	1	0	0	0	0	0	0	0	1	10093	1490	52	3		3	MYOM1	18	3089566	Silent	SNP	T	TCGA-BP-5192-01A-01D-1429-08		3089566	74987682	48	24156											
HMHA1	23526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1073241	1073241	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr19:1073241A>G	ENST00000313093.2	+	3	746	c.515A>G	c.(514-516)aAc>aGc	p.N172S	HMHA1_ENST00000586866.1_Missense_Mutation_p.N176S|HMHA1_ENST00000539243.2_Missense_Mutation_p.N188S|HMHA1_ENST00000536472.1_Missense_Mutation_p.N12S|HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.N199S|HMHA1_ENST00000543365.1_Missense_Mutation_p.N55S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	172					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.N172S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTGCTGAACACCGTGGAG	0.647																																																1	Substitution - Missense(1)	kidney(1)											66	63	64					19																	1073241		2202	4300	6502	SO:0001583	missense	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.515A>G	19.37:g.1073241A>G	ENSP00000316772:p.Asn172Ser		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388256	0.82902	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.27402	1.69;1.69;1.68;1.67	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	M	0.81942	2.565	0.49798	D	0.999822	D;D;D;D	0.89917	1.0;0.986;0.999;0.981	D;P;D;P	0.85130	0.997;0.795;0.991;0.702	T	0.57997	-0.7714	10	0.45353	T	0.12	-43.7187	12.0031	0.53243	1.0:0.0:0.0:0.0	.	12;188;55;172	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	S	188;172;172;12;166;55	ENSP00000439601:N188S;ENSP00000316772:N172S;ENSP00000445109:N12S;ENSP00000438979:N55S	ENSP00000316772:N172S	N	+	2	0	HMHA1	1024241	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.881000	0.75584	1.511000	0.48818	0.402000	0.26972	AAC		0.647	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			G	1073241	A	G	1073241	3	3	441	1	0	0	0	0	1	0	0	0	7242	43	2	3	525	3	HMHA1	19	1073241	Missense_Mutation	SNP	A	TCGA-BP-5192-01A-01D-1429-08		1073241	58055742	49	24157											
TMPRSS9	360200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2418067	2418067	+	Silent	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr19:2418067C>T	ENST00000332578.3	+	12	1983	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	661	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.L661L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGTGTGCTCTACAACTTCT	0.562																																																1	Substitution - coding silent(1)	kidney(1)											192	177	182					19																	2418067		2203	4300	6503	SO:0001819	synonymous_variant	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1983C>T	19.37:g.2418067C>T			Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	CCDS12088.1																																																																																				0.562	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		T	2418067	C	T	2418067	2	4	441	1	0	0	0	0	0	0	0	1	16258	900	32	2		2	TMPRSS9	19	2418067	Silent	SNP	C	TCGA-BP-5192-01A-01D-1429-08	1344826	2418067	56710916	50	24158											
GNAS	2778	broad.mit.edu	37	20	57429540	57429540	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	C	C	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr20:57429540C>G	ENST00000371100.4	+	1	1772	c.1220C>G	c.(1219-1221)aCc>aGc	p.T407S	GNAS_ENST00000371102.4_Missense_Mutation_p.T407S|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.T407S|GNAS_ENST00000306120.3_Missense_Mutation_p.P344A	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.T407S(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCCGGGGCAACCCCAGAAGAT	0.726			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	1	Substitution - Missense(1)	kidney(1)											4	7	6					20																	57429540		1951	4061	6012	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1220C>G	20.37:g.57429540C>G	ENSP00000360141:p.Thr407Ser		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.55|15.55	2.867129|2.867129	0.51588|0.51588	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000306120|ENST00000371099;ENST00000371100;ENST00000371102	.|D;D	.|0.88277	.|-2.36;-2.36	4.37|4.37	4.37|4.37	0.52481|0.52481	.|.	.|3.008120	.|0.01538	.|N	.|0.019090	T|T	0.81973|0.81973	0.4936|0.4936	N|N	0.08118|0.08118	0|0	0.50632|0.50632	D|D	0.999886|0.999886	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.43782|0.43782	-0.9370|-0.9370	6|10	0.49607|0.21014	T|T	0.09|0.42	.|.	15.176|15.176	0.72913|0.72913	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|407	.|Q5JWF2	.|GNAS1_HUMAN	A|S	344|407	.|ENSP00000360141:T407S;ENSP00000360143:T407S	ENSP00000302237:P344A|ENSP00000360140:T407S	P|T	+|+	1|2	0|0	GNAS|GNAS	56862935|56862935	0.012000|0.012000	0.17670|0.17670	0.006000|0.006000	0.13384|0.13384	0.248000|0.248000	0.25809|0.25809	0.720000|0.720000	0.25896|0.25896	2.363000|2.363000	0.80096|0.80096	0.462000|0.462000	0.41574|0.41574	CCC|ACC		0.726	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		G	57429540	C	G	57429540	3	3	441	1	0	0	0	0	1	0	0	0	6512	507	18	4	1964	4	GNAS	20	57429540	Missense_Mutation	SNP	C	TCGA-BP-5192-01A-01D-1429-08		57429540	5595980	51	24159											
LZTR1	8216	hgsc.bcm.edu	37	22	21348927	21348927	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr22:21348927delT	ENST00000215739.8	+	15	2055	c.1696delT	c.(1696-1698)tgcfs	p.C566fs	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Frame_Shift_Del_p.C547fs	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	566					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGAGCAGCTGTGCCGCCAGTA	0.632																																																0													60	46	51					22																	21348927		2202	4300	6502	SO:0001589	frameshift_variant	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1696delT	22.37:g.21348927delT	ENSP00000215739:p.Cys566fs		Q14776|Q20WK0	Frame_Shift_Del	DEL	ENST00000215739.8	37	CCDS33606.1																																																																																				0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		-	21348927	T	-	21348927	7	5	441	1	0	1	0	1	0	0	0	0	9139	1696	59	0	1754	0	LZTR1	22	21348927	Frame_Shift_Del	DEL	T	TCGA-BP-5192-01A-01D-1429-08		21348927	29955639	52	24160											
SHROOM4	57477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	50341293	50341293	+	Silent	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chrX:50341293G>A	ENST00000289292.7	-	8	4468	c.4185C>T	c.(4183-4185)agC>agT	p.S1395S	SHROOM4_ENST00000376020.2_Silent_p.S1395S|SHROOM4_ENST00000460112.3_Silent_p.S1279S|SHROOM4_ENST00000483955.1_5'Flank			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1395	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.S1395S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTGAATCGATGCTGTTCAGAG	0.517																																																1	Substitution - coding silent(1)	kidney(1)											87	69	75					X																	50341293		2203	4300	6503	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.4185C>T	X.37:g.50341293G>A			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																				0.517	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		A	50341293	G	A	50341293	2	1	441	1	0	0	0	0	0	0	0	1	14302	1310	46	2		2	SHROOM4	23	50341293	Silent	SNP	G	TCGA-BP-5192-01A-01D-1429-08		50341293	104929267	53	24161											
MAGT1	84061	broad.mit.edu;hgsc.bcm.edu	37	X	77096799	77096799	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chrX:77096799C>G	ENST00000358075.6	-	8	1027	c.941G>C	c.(940-942)gGa>gCa	p.G314A		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	282					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.G282A(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AAGCACCATTCCTAAGGTAAC	0.368																																																1	Substitution - Missense(1)	kidney(1)											131	114	120					X																	77096799		2203	4296	6499	SO:0001583	missense	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.941G>C	X.37:g.77096799C>G	ENSP00000354649:p.Gly314Ala		B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000358075.6	37	CCDS14436.2	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879954	0.72294	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	D	0.81996	-1.56	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	D	0.90366	0.6985	M	0.84948	2.725	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.88727	0.3234	10	0.15952	T	0.53	-7.5031	14.5319	0.67931	0.0:1.0:0.0:0.0	.	282	Q9H0U3	MAGT1_HUMAN	A	314;165	ENSP00000354649:G314A	ENSP00000354649:G314A	G	-	2	0	MAGT1	76983455	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.538000	0.67193	2.175000	0.68902	0.468000	0.43344	GGA		0.368	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121		G	77096799	C	G	77096799	3	3	441	1	0	0	0	0	1	0	0	0	9198	855	30	4	174	4	MAGT1	23	77096799	Missense_Mutation	SNP	C	TCGA-BP-5192-01A-01D-1429-08	26755506	77096799	78173761	54	24162											
COL4A5	1287	broad.mit.edu;hgsc.bcm.edu	37	X	107849993	107849993	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chrX:107849993C>T	ENST00000361603.2	+	29	2510	c.2266C>T	c.(2266-2268)Cct>Tct	p.P756S	COL4A5_ENST00000328300.6_Missense_Mutation_p.P756S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	756	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.P756S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTTGCATTACCTGGGCCACC	0.493									Alport syndrome with Diffuse Leiomyomatosis																																							1	Substitution - Missense(1)	kidney(1)											149	120	130					X																	107849993		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2266C>T	X.37:g.107849993C>T	ENSP00000354505:p.Pro756Ser		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336298	0.60963	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93763	-3.28;-3.14	5.61	5.61	0.85477	.	0.119417	0.56097	N	0.000021	D	0.96516	0.8863	M	0.79123	2.44	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.986;0.995;0.986	D	0.95485	0.8564	10	0.31617	T	0.26	.	18.6523	0.91435	0.0:1.0:0.0:0.0	.	756;364;756	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	S	756	ENSP00000331902:P756S;ENSP00000354505:P756S	ENSP00000331902:P756S	P	+	1	0	COL4A5	107736649	1.000000	0.71417	0.985000	0.45067	0.852000	0.48524	4.612000	0.61169	2.348000	0.79779	0.600000	0.82982	CCT		0.493	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			T	107849993	C	T	107849993	3	4	441	1	0	0	0	0	1	0	0	0	3696	507	18	2	2380	2	COL4A5	23	107849993	Missense_Mutation	SNP	C	TCGA-BP-5192-01A-01D-1429-08	30753194	107849993	47420567	55	24163											
HEATR5B	54497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	37255866	37255866	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr2:37255866G>A	ENST00000233099.5	-	23	3654	c.3559C>T	c.(3559-3561)Cat>Tat	p.H1187Y	HEATR5B_ENST00000354531.2_Missense_Mutation_p.H1187Y	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1187						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.H1187Y(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATTAGCCAATGAGAAAGTTTT	0.358																																																1	Substitution - Missense(1)	kidney(1)											76	77	77					2																	37255866		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3559C>T	2.37:g.37255866G>A	ENSP00000233099:p.His1187Tyr		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580771	0.28180	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.51071	0.72;0.72	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.41961	1.31	0.80722	D	1	B	0.28208	0.203	B	0.22386	0.039	T	0.31081	-0.9956	10	0.02654	T	1	-12.4847	17.6029	0.88030	0.0:0.0:1.0:0.0	.	1187	Q9P2D3	HTR5B_HUMAN	Y	1187	ENSP00000233099:H1187Y;ENSP00000346531:H1187Y	ENSP00000233099:H1187Y	H	-	1	0	HEATR5B	37109370	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.869000	0.99810	2.143000	0.66587	0.655000	0.94253	CAT		0.358	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		A	37255866	G	A	37255866	3	1	442	1	0	0	0	0	1	0	0	0	7034	1290	45	2	2712	2	HEATR5B	2	37255866	Missense_Mutation	SNP	G	TCGA-BP-5194-01A-02D-1429-08		37255866	205943507	1	24164											
AFF3	3899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	100199360	100199360	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr2:100199360G>T	ENST00000409236.2	-	15	2805	c.2693C>A	c.(2692-2694)tCt>tAt	p.S898Y	AFF3_ENST00000317233.4_Missense_Mutation_p.S898Y|AFF3_ENST00000356421.2_Missense_Mutation_p.S923Y|AFF3_ENST00000409579.1_Missense_Mutation_p.S923Y			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	898					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S923Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGGCTGGAAGAAGTTAAGTC	0.488																																																1	Substitution - Missense(1)	kidney(1)											166	151	156					2																	100199360		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2693C>A	2.37:g.100199360G>T	ENSP00000387207:p.Ser898Tyr		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217104	0.79352	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.83	5.83	0.93111	.	0.211114	0.34484	N	0.003926	T	0.78960	0.4366	M	0.72894	2.215	0.43787	D	0.996328	D;D	0.76494	0.991;0.999	D;D	0.73380	0.934;0.98	T	0.79191	-0.1905	10	0.59425	D	0.04	.	18.3144	0.90215	0.0:0.0:1.0:0.0	.	898;923	P51826;P51826-2	AFF3_HUMAN;.	Y	898;923;923;898	ENSP00000317421:S898Y;ENSP00000348793:S923Y;ENSP00000386834:S923Y;ENSP00000387207:S898Y	ENSP00000317421:S898Y	S	-	2	0	AFF3	99565792	1.000000	0.71417	0.837000	0.33122	0.993000	0.82548	4.746000	0.62133	2.770000	0.95276	0.655000	0.94253	TCT		0.488	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		T	100199360	G	T	100199360	3	4	442	1	0	0	0	0	1	0	0	0	358	942	33	4	1023	4	AFF3	2	100199360	Missense_Mutation	SNP	G	TCGA-BP-5194-01A-02D-1429-08	62943494	100199360	143000013	2	24165											
CCDC148	130940	broad.mit.edu;ucsc.edu	37	2	159312934	159312934	+	Silent	SNP	A	A	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr2:159312934A>T	ENST00000283233.5	-	1	331	c.18T>A	c.(16-18)gcT>gcA	p.A6A	CCDC148_ENST00000536771.1_5'UTR|PKP4_ENST00000389759.3_5'Flank|CCDC148_ENST00000491563.1_5'UTR|CCDC148_ENST00000409889.1_Silent_p.A6A|PKP4_ENST00000389757.3_5'Flank	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	6								p.A6A(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACCTGGAGAAGCAGAAGCTG	0.552																																																1	Substitution - coding silent(1)	kidney(1)											140	102	115					2																	159312934		2203	4300	6503	SO:0001819	synonymous_variant	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.18T>A	2.37:g.159312934A>T			F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Silent	SNP	ENST00000283233.5	37	CCDS33304.1																																																																																				0.552	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		T	159312934	A	T	159312934	2	4	442	1	0	0	0	0	0	0	0	1	2784	59	3	5		5	CCDC148	2	159312934	Silent	SNP	A	TCGA-BP-5194-01A-02D-1429-08	59113574	159312934	83886439	3	24166											
IL17RE	132014	broad.mit.edu	37	3	9957050	9957050	+	Silent	SNP	C	C	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr3:9957050C>T	ENST00000383814.3	+	16	1668	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	IL17RC_ENST00000413608.1_5'Flank|IL17RC_ENST00000416074.2_5'Flank|IL17RE_ENST00000454190.2_3'UTR|IL17RC_ENST00000295981.3_5'Flank|IL17RE_ENST00000421412.1_Silent_p.D554D|IL17RC_ENST00000383812.4_5'Flank|IL17RC_ENST00000455057.1_5'Flank|IL17RC_ENST00000403601.3_5'Flank|IL17RE_ENST00000295980.3_Silent_p.D521D	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	521	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D521D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GCGGGCGCGACGTGATCGTGG	0.771																																																1	Substitution - coding silent(1)	kidney(1)											3	3	3					3																	9957050		1631	3324	4955	SO:0001819	synonymous_variant	132014			AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"Interleukins and interleukin receptors"	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1563C>T	3.37:g.9957050C>T			B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	37	CCDS2589.1																																																																																				0.771	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		T	9957050	C	T	9957050	2	4	442	1	0	0	0	0	0	0	0	1	7645	535	19	1		1	IL17RE	3	9957050	Silent	SNP	C	TCGA-BP-5194-01A-02D-1429-08		9957050	188065380	4	24167											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10191642	10191643	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr3:10191642_10191643delGA	ENST00000256474.2	+	3	1475_1476	c.635_636delGA	c.(634-636)ggafs	p.G212fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.G171fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	212					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.D213fs*8(1)|p.D213fs*>2(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAACGGATGGGAGATTGAAGAT	0.465		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	2	Insertion - Frameshift(2)	kidney(2)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.635_636delGA	3.37:g.10191644_10191645delGA	ENSP00000256474:p.Gly212fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.465	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191643	GA	-	10191642	7	5	442	1	0	1	0	1	0	0	0	0	17167	1174	41	0	645	0	VHL	3	10191642	Frame_Shift_Del	DEL	GA	TCGA-BP-5194-01A-02D-1429-08	234592	10191642	187830788	5	24168											
C3orf70	285382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184801263	184801263	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr3:184801263A>C	ENST00000335012.2	-	2	475	c.285T>G	c.(283-285)atT>atG	p.I95M		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	95								p.I95M(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CTGAGATCTGAATGGTGTTTG	0.507																																																1	Substitution - Missense(1)	kidney(1)											74	77	76					3																	184801263		2203	4300	6503	SO:0001583	missense	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.285T>G	3.37:g.184801263A>C	ENSP00000334974:p.Ile95Met		B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568842	0.45798	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.79	-1.9	0.07665	.	0.191162	0.53938	N	0.000041	T	0.25754	0.0627	N	0.11560	0.145	0.47994	D	0.99956	B	0.33940	0.433	B	0.31686	0.134	T	0.02320	-1.1177	9	0.45353	T	0.12	.	7.689	0.28557	0.4227:0.1258:0.4515:0.0	.	95	A6NLC5	CC070_HUMAN	M	95	.	ENSP00000334974:I95M	I	-	3	3	C3orf70	186283957	0.120000	0.22244	0.997000	0.53966	0.993000	0.82548	-0.489000	0.06490	-0.096000	0.12329	-0.250000	0.11733	ATT		0.507	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		C	184801263	A	C	184801263	3	2	442	1	0	0	0	0	1	0	0	0	2244	242	9	5	471	5	C3orf70	3	184801263	Missense_Mutation	SNP	A	TCGA-BP-5194-01A-02D-1429-08	174609621	184801263	13221167	6	24169											
BRPF3	27154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36198303	36198303	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr6:36198303G>T	ENST00000357641.6	+	13	3788	c.3535G>T	c.(3535-3537)Gtg>Ttg	p.V1179L	BRPF3_ENST00000443324.2_Missense_Mutation_p.V845L|BRPF3_ENST00000534694.1_Missense_Mutation_p.V845L|BRPF3_ENST00000534400.1_3'UTR|BRPF3_ENST00000339717.7_Missense_Mutation_p.V909L|BRPF3_ENST00000543502.1_Missense_Mutation_p.V909L	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1179					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.V1179L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCGCAAGTCAGTGCAGGTGGC	0.612																																																1	Substitution - Missense(1)	kidney(1)											93	76	82					6																	36198303		2203	4300	6503	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3535G>T	6.37:g.36198303G>T	ENSP00000350267:p.Val1179Leu		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	36	5.686936	0.96784	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	M	0.74647	2.275	0.42246	D	0.991955	P;D;D	0.89917	0.945;0.998;1.0	D;D;D	0.77004	0.941;0.989;0.981	T	0.81353	-0.0971	10	0.87932	D	0	.	20.0833	0.97789	0.0:0.0:1.0:0.0	.	845;909;1179	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	L	1179;909;845;909;845	ENSP00000350267:V1179L;ENSP00000345419:V909L;ENSP00000434501:V845L;ENSP00000445352:V909L;ENSP00000387368:V845L	ENSP00000345419:V909L	V	+	1	0	BRPF3	36306281	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	GTG		0.612	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		T	36198303	G	T	36198303	3	4	442	1	0	0	0	0	1	0	0	0	1523	1029	36	4	3581	4	BRPF3	6	36198303	Missense_Mutation	SNP	G	TCGA-BP-5194-01A-02D-1429-08		36198303	134916764	7	24170											
C8orf44	56260	broad.mit.edu	37	8	67590120	67590120	+	Silent	SNP	C	C	A	rs546189778		TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr8:67590120C>A	ENST00000519561.1	+	2	328	c.177C>A	c.(175-177)gtC>gtA	p.V59V	C8orf44-SGK3_ENST00000520044.1_Intron|C8orf44-SGK3_ENST00000519289.1_Intron|C8orf44_ENST00000521889.1_Silent_p.V59V|C8orf44_ENST00000390159.3_Silent_p.V59V	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	59						nucleus (GO:0005634)		p.V59V(1)		endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			cacctgaggtcaggagttcga	0.537																																																1	Substitution - coding silent(1)	kidney(1)											21	21	21					8																	67590120		2203	4291	6494	SO:0001819	synonymous_variant	56260			AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.177C>A	8.37:g.67590120C>A			Q9NUM6	Silent	SNP	ENST00000519561.1	37	CCDS6193.1																																																																																				0.537	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379242.2	NM_019607		A	67590120	C	A	67590120	2	1	442	1	0	0	0	0	0	0	0	1	2431	813	29	4		4	C8orf44	8	67590120	Silent	SNP	C	TCGA-BP-5194-01A-02D-1429-08		67590120	78773902	8	24171											
WEE1	7465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	9610146	9610146	+	Silent	SNP	C	C	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr11:9610146C>T	ENST00000450114.2	+	11	2191	c.1938C>T	c.(1936-1938)taC>taT	p.Y646Y	WEE1_ENST00000299613.6_Silent_p.Y432Y	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	646					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|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)|protein tyrosine kinase activity (GO:0004713)	p.Y646Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTACTATATACTGAGCTACTC	0.453																																																1	Substitution - coding silent(1)	kidney(1)											132	131	131					11																	9610146		2201	4294	6495	SO:0001819	synonymous_variant	7465			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1938C>T	11.37:g.9610146C>T			B3KVE1|D3DQV0	Silent	SNP	ENST00000450114.2	37	CCDS7800.1																																																																																				0.453	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		T	9610146	C	T	9610146	2	4	442	1	0	0	0	0	0	0	0	1	17349	576	20	2		2	WEE1	11	9610146	Silent	SNP	C	TCGA-BP-5194-01A-02D-1429-08		9610146	125396370	9	24172											
MAP3K11	4296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65375920	65375920	+	Splice_Site	SNP	C	C	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr11:65375920C>A	ENST00000530153.1	-	2	490		c.e2-1		MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000532507.1_5'Flank|MAP3K11_ENST00000309100.3_Splice_Site					mitogen-activated protein kinase kinase kinase 11									p.?(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						AGCAGCAAAACTAGAGAAGAG	0.557																																																1	Unknown(1)	kidney(1)											56	48	51					11																	65375920		2201	4297	6498	SO:0001630	splice_region_variant	4296				CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.32-1G>T	11.37:g.65375920C>A				Splice_Site	SNP	ENST00000530153.1	37		.	.	.	.	.	.	.	.	.	.	C	16.31	3.087903	0.55968	.	.	ENSG00000173327	ENST00000309100	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2904	0.73862	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K11	65132496	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.401000	0.79962	2.478000	0.83669	0.561000	0.74099	.		0.557	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2		Intron	A	65375920	C	A	65375920	5	1	442	1	0	0	0	0	0	0	1	0	9247	579	20	4	1840	4	MAP3K11	11	65375920	Splice_Site	SNP	C	TCGA-BP-5194-01A-02D-1429-08	55765774	65375920	69630596	10	24173											
KRT2	3849	broad.mit.edu;ucsc.edu	37	12	53045802	53045802	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr12:53045802C>T	ENST00000309680.3	-	1	146	c.125G>A	c.(124-126)tGc>tAc	p.C42Y		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	42	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.C42Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCGGCTCAAGCAGGAGAAGCT	0.612																																																1	Substitution - Missense(1)	kidney(1)											37	41	40					12																	53045802		2203	4300	6503	SO:0001583	missense	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.125G>A	12.37:g.53045802C>T	ENSP00000310861:p.Cys42Tyr		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132671	0.37630	.	.	ENSG00000172867	ENST00000309680	D	0.85556	-2.0	4.87	4.87	0.63330	.	.	.	.	.	T	0.76941	0.4058	L	0.45698	1.435	0.35909	D	0.830947	P	0.41910	0.764	B	0.37144	0.242	T	0.77970	-0.2387	9	0.02654	T	1	.	14.4425	0.67327	0.0:0.808:0.192:0.0	.	42	P35908	K22E_HUMAN	Y	42	ENSP00000310861:C42Y	ENSP00000310861:C42Y	C	-	2	0	KRT2	51332069	0.230000	0.23740	0.998000	0.56505	0.982000	0.71751	1.337000	0.33862	2.417000	0.82017	0.462000	0.41574	TGC		0.612	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		T	53045802	C	T	53045802	3	4	442	1	0	0	0	0	1	0	0	0	8459	710	25	2	1830	2	KRT2	12	53045802	Missense_Mutation	SNP	C	TCGA-BP-5194-01A-02D-1429-08		53045802	80806093	11	24174											
RNF10	9921	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121004766	121004766	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr12:121004766G>C	ENST00000325954.4	+	13	2485	c.2024G>C	c.(2023-2025)aGt>aCt	p.S675T	RNF10_ENST00000413266.2_Missense_Mutation_p.S680T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	675					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S675T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCAGCAGAAGTCCAGGTTCC	0.498																																																1	Substitution - Missense(1)	kidney(1)											65	65	65					12																	121004766		2203	4300	6503	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2024G>C	12.37:g.121004766G>C	ENSP00000322242:p.Ser675Thr		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815570	0.90790	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266	D;D	0.90133	-2.62;-2.62	5.87	5.87	0.94306	.	0.079450	0.85682	D	0.000000	D	0.93890	0.8045	L	0.49350	1.555	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.75020	0.942;0.985	D	0.91916	0.5543	10	0.32370	T	0.25	.	20.2169	0.98300	0.0:0.0:1.0:0.0	.	680;675	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	T	675;675;680	ENSP00000322242:S675T;ENSP00000415682:S680T	ENSP00000322242:S675T	S	+	2	0	RNF10	119489149	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.047000	0.64232	2.774000	0.95407	0.643000	0.83706	AGT		0.498	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			C	121004766	G	C	121004766	3	2	442	1	0	0	0	0	1	0	0	0	13428	1029	36	4	2074	4	RNF10	12	121004766	Missense_Mutation	SNP	G	TCGA-BP-5194-01A-02D-1429-08	67958964	121004766	12847129	12	24175											
RGS6	9628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	72925078	72925078	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr14:72925078G>A	ENST00000553530.1	+	5	542	c.335G>A	c.(334-336)cGt>cAt	p.R112H	RGS6_ENST00000343854.6_Missense_Mutation_p.R112H|RGS6_ENST00000402788.2_Missense_Mutation_p.R112H|RGS6_ENST00000406236.4_Missense_Mutation_p.R112H|RGS6_ENST00000553525.1_Missense_Mutation_p.R112H|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000556437.1_Missense_Mutation_p.R112H|RGS6_ENST00000434263.2_Missense_Mutation_p.R43H|RGS6_ENST00000404301.2_Missense_Mutation_p.R112H|RGS6_ENST00000554782.1_5'Flank|RGS6_ENST00000407322.4_Missense_Mutation_p.R112H|RGS6_ENST00000555571.1_Missense_Mutation_p.R112H|RGS6_ENST00000355512.6_Missense_Mutation_p.R112H	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	112	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R112H(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ACCTTTTATCGTTTCCAGGTA	0.458																																					Ovarian(143;1926 2468 21071 48641)											1	Substitution - Missense(1)	kidney(1)											144	103	117					14																	72925078		2203	4300	6503	SO:0001583	missense	9628			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.335G>A	14.37:g.72925078G>A	ENSP00000452331:p.Arg112His		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583646	0.96578	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263	T;T;T;T;T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	6.02	6.02	0.97574	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66479	0.2793	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71447	-0.4590	10	0.87932	D	0	0.2708	20.5407	0.99260	0.0:0.0:1.0:0.0	.	43;117;112	B7Z7N5;Q59FJ8;P49758	.;.;RGS6_HUMAN	H	112;112;112;112;112;112;112;112;112;112;84;43	ENSP00000451030:R112H;ENSP00000450936:R112H;ENSP00000452331:R112H;ENSP00000451855:R112H;ENSP00000347699:R112H;ENSP00000385243:R112H;ENSP00000384218:R112H;ENSP00000384612:R112H;ENSP00000383953:R112H;ENSP00000341199:R112H;ENSP00000412144:R43H	ENSP00000341199:R112H	R	+	2	0	RGS6	71994831	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.797000	0.99108	2.865000	0.98341	0.655000	0.94253	CGT		0.458	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			A	72925078	G	A	72925078	3	1	442	1	0	0	0	0	1	0	0	0	13315	1145	40	1	349	1	RGS6	14	72925078	Missense_Mutation	SNP	G	TCGA-BP-5194-01A-02D-1429-08		72925078	34424462	13	24176											
CCDC88C	440193	broad.mit.edu;hgsc.bcm.edu	37	14	91755525	91755525	+	Silent	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr14:91755525G>A	ENST00000389857.6	-	25	4451	c.4365C>T	c.(4363-4365)gcC>gcT	p.A1455A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1455					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.A1455A(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGGGGTTCTCGGCCTGTGATC	0.682																																																2	Substitution - coding silent(2)	kidney(2)											62	68	66					14																	91755525		1878	4102	5980	SO:0001819	synonymous_variant	440193				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4365C>T	14.37:g.91755525G>A			Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	CCDS45151.1																																																																																				0.682	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		A	91755525	G	A	91755525	2	1	442	1	0	0	0	0	0	0	0	1	2867	1103	39	1		1	CCDC88C	14	91755525	Silent	SNP	G	TCGA-BP-5194-01A-02D-1429-08	18830447	91755525	15594015	14	24177											
SLC28A2	9153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45559673	45559673	+	Silent	SNP	C	C	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr15:45559673C>A	ENST00000347644.3	+	11	1028	c.963C>A	c.(961-963)atC>atA	p.I321I	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	321					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.I321I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	CTCTGCTCATCCGTCCCTACC	0.557																																					NSCLC(92;493 1501 26361 28917 47116)											1	Substitution - coding silent(1)	kidney(1)											181	169	173					15																	45559673		2198	4298	6496	SO:0001819	synonymous_variant	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.963C>A	15.37:g.45559673C>A			A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	CCDS10121.1																																																																																				0.557	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		A	45559673	C	A	45559673	2	1	442	1	0	0	0	0	0	0	0	1	14538	845	30	4		4	SLC28A2	15	45559673	Silent	SNP	C	TCGA-BP-5194-01A-02D-1429-08		45559673	56971719	15	24178											
SRL	6345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4247843	4247843	+	Silent	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr16:4247843G>A	ENST00000399609.3	-	4	345	c.333C>T	c.(331-333)aaC>aaT	p.N111N	SRL_ENST00000537996.1_Silent_p.N69N	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	570	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N111N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CAAGGAGGTAGTTTATCATGG	0.428																																																1	Substitution - coding silent(1)	kidney(1)											112	105	107					16																	4247843		1880	4106	5986	SO:0001819	synonymous_variant	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.333C>T	16.37:g.4247843G>A				Silent	SNP	ENST00000399609.3	37	CCDS42113.1																																																																																				0.428	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		A	4247843	G	A	4247843	2	1	442	1	0	0	0	0	0	0	0	1	15155	1020	36	2		2	SRL	16	4247843	Silent	SNP	G	TCGA-BP-5194-01A-02D-1429-08		4247843	86106910	16	24179											
GGA2	23062	hgsc.bcm.edu;ucsc.edu	37	16	23481417	23481417	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr16:23481417delC	ENST00000309859.4	-	15	1602	c.1520delG	c.(1519-1521)ggafs	p.G507fs	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	507	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CCCAGGGGCTCCCGTCTGGGA	0.547																																																0													73	74	73					16																	23481417		2197	4300	6497	SO:0001589	frameshift_variant	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1520delG	16.37:g.23481417delC	ENSP00000311962:p.Gly507fs		D3DWF0|O14564|Q9NYN2|Q9UPS2	Frame_Shift_Del	DEL	ENST00000309859.4	37	CCDS10611.1																																																																																				0.547	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			-	23481417	C	-	23481417	7	5	442	1	0	1	0	1	0	0	0	0	6355	855	30	0	333	0	GGA2	16	23481417	Frame_Shift_Del	DEL	C	TCGA-BP-5194-01A-02D-1429-08	19233574	23481417	66873336	17	24180											
VPS35	55737	broad.mit.edu;hgsc.bcm.edu	37	16	46717480	46717480	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr16:46717480C>G	ENST00000299138.7	-	2	100	c.42G>C	c.(40-42)aaG>aaC	p.K14N		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	14					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.K14N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATCCAAGAGCTTTTCCTGCT	0.448																																																1	Substitution - Missense(1)	kidney(1)											84	67	73					16																	46717480		2203	4297	6500	SO:0001583	missense	55737			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.42G>C	16.37:g.46717480C>G	ENSP00000299138:p.Lys14Asn		Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319440	0.41096	.	.	ENSG00000069329	ENST00000299138	T	0.50548	0.74	5.24	1.08	0.20341	.	0.106561	0.64402	D	0.000004	T	0.61261	0.2333	M	0.84433	2.695	0.58432	D	0.999999	P	0.48294	0.908	P	0.55222	0.771	T	0.62343	-0.6874	10	0.87932	D	0	-26.0005	8.5509	0.33451	0.0:0.5747:0.0:0.4253	.	14	Q96QK1	VPS35_HUMAN	N	14	ENSP00000299138:K14N	ENSP00000299138:K14N	K	-	3	2	VPS35	45274981	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	0.883000	0.28200	0.042000	0.15717	-0.262000	0.10625	AAG		0.448	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			G	46717480	C	G	46717480	3	3	442	1	0	0	0	0	1	0	0	0	17208	796	28	4	2412	4	VPS35	16	46717480	Missense_Mutation	SNP	C	TCGA-BP-5194-01A-02D-1429-08	23236063	46717480	43637273	18	24181											
POLR2C	5432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57503112	57503112	+	Silent	SNP	G	G	A	rs371938475		TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr16:57503112G>A	ENST00000219252.5	+	5	632	c.294G>A	c.(292-294)tcG>tcA	p.S98S	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	98					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.S98S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CCGAGTGCTCGGTGGAGTTCA	0.577																																																1	Substitution - coding silent(1)	kidney(1)						G		0,4396		0,0,2198	145	121	129		294	-11.1	0.3	16		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	POLR2C	NM_032940.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		98/276	57503112	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	5432				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"RNA polymerase subunits"	9189	protein-coding gene	gene with protein product	"RNA polymerase II subunit 3"	180663	"polymerase (RNA) II (DNA directed) polypeptide C (33kD)"			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.294G>A	16.37:g.57503112G>A			O15161	Silent	SNP	ENST00000219252.5	37	CCDS10782.1																																																																																				0.577	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		A	57503112	G	A	57503112	2	1	442	1	0	0	0	0	0	0	0	1	12218	1103	39	1		1	POLR2C	16	57503112	Silent	SNP	G	TCGA-BP-5194-01A-02D-1429-08	10785632	57503112	32851641	19	24182											
TMEM132E	124842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	32953491	32953491	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr17:32953491C>T	ENST00000321639.5	+	2	741	c.413C>T	c.(412-414)tCg>tTg	p.S138L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	138						integral component of membrane (GO:0016021)		p.S138L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTGCCCGCCTCGCAGCCCGTG	0.701																																																1	Substitution - Missense(1)	kidney(1)											20	22	21					17																	32953491		2201	4293	6494	SO:0001583	missense	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.413C>T	17.37:g.32953491C>T	ENSP00000316532:p.Ser138Leu		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	16.78	3.217163	0.58560	.	.	ENSG00000181291	ENST00000321639	T	0.43688	0.94	5.17	5.17	0.71159	.	0.245363	0.37906	N	0.001899	T	0.35856	0.0946	M	0.62723	1.935	0.24406	N	0.994687	P	0.46327	0.876	B	0.34652	0.187	T	0.51044	-0.8755	10	0.66056	D	0.02	-14.8854	10.6378	0.45575	0.1468:0.7113:0.1419:0.0	.	138	Q6IEE7	T132E_HUMAN	L	138	ENSP00000316532:S138L	ENSP00000316532:S138L	S	+	2	0	TMEM132E	29977604	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.791000	0.26915	2.403000	0.81681	0.543000	0.68304	TCG		0.701	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		T	32953491	C	T	32953491	3	4	442	1	0	0	0	0	1	0	0	0	16053	893	31	1	419	1	TMEM132E	17	32953491	Missense_Mutation	SNP	C	TCGA-BP-5194-01A-02D-1429-08		32953491	48241719	20	24183											
HOXB1	3211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46607033	46607033	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr17:46607033C>T	ENST00000239174.6	-	2	874	c.782G>A	c.(781-783)cGc>cAc	p.R261H	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	261					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.R261H(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCTCGCTCGCGCTTCTTCTG	0.632																																																1	Substitution - Missense(1)	kidney(1)											124	128	126					17																	46607033		2203	4300	6503	SO:0001583	missense	3211				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.782G>A	17.37:g.46607033C>T	ENSP00000355140:p.Arg261His		Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018452	0.93404	.	.	ENSG00000120094	ENST00000239174	D	0.95853	-3.83	5.3	4.32	0.51571	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.135771	0.34411	N	0.003996	D	0.95564	0.8558	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.63957	0.92	D	0.96238	0.9173	10	0.87932	D	0	.	15.13	0.72514	0.1424:0.8576:0.0:0.0	.	261	P14653	HXB1_HUMAN	H	261	ENSP00000355140:R261H	ENSP00000355140:R261H	R	-	2	0	HOXB1	43962032	1.000000	0.71417	0.950000	0.38849	0.982000	0.71751	7.629000	0.83207	1.462000	0.47948	0.655000	0.94253	CGC		0.632	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			T	46607033	C	T	46607033	3	4	442	1	0	0	0	0	1	0	0	0	7301	768	27	1	127	1	HOXB1	17	46607033	Missense_Mutation	SNP	C	TCGA-BP-5194-01A-02D-1429-08	13653542	46607033	34588177	21	24184											
TBCD	6904	broad.mit.edu	37	17	80863900	80863900	+	Silent	SNP	C	C	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr17:80863900C>A	ENST00000355528.4	+	20	2023	c.1893C>A	c.(1891-1893)gcC>gcA	p.A631A	TBCD_ENST00000539345.2_Silent_p.A631A|TBCD_ENST00000397466.2_Silent_p.A245A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	631					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.A631A(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTGCTTACGCCTTGTACAAAC	0.542																																																1	Substitution - coding silent(1)	kidney(1)											68	69	69					17																	80863900		2063	4202	6265	SO:0001819	synonymous_variant	6904			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1893C>A	17.37:g.80863900C>A			O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	CCDS45818.1																																																																																				0.542	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		A	80863900	C	A	80863900	2	1	442	1	0	0	0	0	0	0	0	1	15638	668	24	4		4	TBCD	17	80863900	Silent	SNP	C	TCGA-BP-5194-01A-02D-1429-08	34256867	80863900	331310	22	24185											
VN1R2	317701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53762110	53762110	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr19:53762110G>A	ENST00000341702.3	+	1	566	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	161					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.G161E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AATTATTTTGGATGCAAATTT	0.458																																																1	Substitution - Missense(1)	kidney(1)											52	54	54					19																	53762110		2203	4300	6503	SO:0001583	missense	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.482G>A	19.37:g.53762110G>A	ENSP00000351244:p.Gly161Glu		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033778	0.19590	.	.	ENSG00000196131	ENST00000341702	T	0.09163	3.01	2.93	0.728	0.18260	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20536	0.0494	M	0.64630	1.985	0.09310	N	1	D	0.54601	0.967	P	0.58391	0.838	T	0.08166	-1.0735	9	0.51188	T	0.08	.	6.0541	0.19802	0.1178:0.1946:0.6876:0.0	.	161	Q8NFZ6	VN1R2_HUMAN	E	161	ENSP00000351244:G161E	ENSP00000351244:G161E	G	+	2	0	VN1R2	58453922	0.008000	0.16893	0.009000	0.14445	0.147000	0.21601	-0.364000	0.07583	0.299000	0.22661	0.590000	0.80494	GGA		0.458	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		A	53762110	G	A	53762110	3	1	442	1	0	0	0	0	1	0	0	0	17184	1174	41	2	484	2	VN1R2	19	53762110	Missense_Mutation	SNP	G	TCGA-BP-5194-01A-02D-1429-08		53762110	5366873	23	24186	185	2									
VN1R2	317701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53762116	53762116	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr19:53762116A>T	ENST00000341702.3	+	1	572	c.488A>T	c.(487-489)aAa>aTa	p.K163I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	163					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.K163I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTTGGATGCAAATTTCTTTTG	0.453																																																1	Substitution - Missense(1)	kidney(1)											50	52	51					19																	53762116		2203	4299	6502	SO:0001583	missense	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.488A>T	19.37:g.53762116A>T	ENSP00000351244:p.Lys163Ile		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	A	9.320	1.057745	0.19907	.	.	ENSG00000196131	ENST00000341702	T	0.12147	2.71	2.94	-0.746	0.11095	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.34803	0.0910	M	0.90542	3.125	0.09310	N	1	D	0.65815	0.995	D	0.64595	0.927	T	0.12091	-1.0561	9	0.72032	D	0.01	.	4.3757	0.11269	0.4896:0.1735:0.0:0.3368	.	163	Q8NFZ6	VN1R2_HUMAN	I	163	ENSP00000351244:K163I	ENSP00000351244:K163I	K	+	2	0	VN1R2	58453928	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	-0.208000	0.09371	-0.234000	0.09782	-0.459000	0.05422	AAA		0.453	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		T	53762116	A	T	53762116	3	4	442	1	0	0	0	0	1	0	0	0	17184	14	1	5	490	5	VN1R2	19	53762116	Missense_Mutation	SNP	A	TCGA-BP-5194-01A-02D-1429-08	6	53762116	5366867	24	24187	185	2									
LBP	3929	hgsc.bcm.edu	37	20	36982823	36982823	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chr20:36982823A>G	ENST00000217407.2	+	4	669	c.508A>G	c.(508-510)Atg>Gtg	p.M170V		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	170					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.M170V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGAGGTGGACATGTCGGGAGA	0.622																																																1	Substitution - Missense(1)	kidney(1)											48	41	44					20																	36982823		2203	4300	6503	SO:0001583	missense	3929				CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.508A>G	20.37:g.36982823A>G	ENSP00000217407:p.Met170Val		B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	A	0.157	-1.085687	0.01873	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.04758	3.56	4.77	-8.28	0.01013	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.234660	0.05532	N	0.564182	T	0.01800	0.0057	N	0.02830	-0.485	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48175	-0.9058	10	0.20046	T	0.44	0.846	7.4981	0.27500	0.3519:0.2242:0.4239:0.0	.	170	P18428	LBP_HUMAN	V	170	ENSP00000217407:M170V	ENSP00000217407:M170V	M	+	1	0	LBP	36416237	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	-1.811000	0.01728	-1.837000	0.01189	0.459000	0.35465	ATG		0.622	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		G	36982823	A	G	36982823	3	3	442	1	0	0	0	0	1	0	0	0	8653	217	8	3	522	3	LBP	20	36982823	Missense_Mutation	SNP	A	TCGA-BP-5194-01A-02D-1429-08		36982823	26042697	25	24188											
CCDC22	28952	broad.mit.edu;hgsc.bcm.edu	37	X	49105114	49105114	+	Silent	SNP	G	G	A	rs138555929	byFrequency	TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chrX:49105114G>A	ENST00000376227.3	+	12	1520	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	450								p.L450L(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CTCGACGGCTGGCAGAGATCC	0.617													G|||	1	0.000264901	0.0	0.0	3775	,	,		10140	0.0		0.001	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)						G		0,3829		0,0,1631,567	27	28	27		1350	2.6	1	X	dbSNP_134	27	2,6720		0,2,2426,1866	no	coding-synonymous	CCDC22	NM_014008.3		0,2,4057,2433	AA,AG,GG,G		0.0298,0.0,0.019		450/628	49105114	2,10549	2198	4294	6492	SO:0001819	synonymous_variant	28952			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"chromosome X open reading frame 37"	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1350G>A	X.37:g.49105114G>A			A8K7G1	Silent	SNP	ENST00000376227.3	37	CCDS14322.1																																																																																				0.617	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		A	49105114	G	A	49105114	2	1	442	1	0	0	0	0	0	0	0	1	2799	1335	47	2		2	CCDC22	23	49105114	Silent	SNP	G	TCGA-BP-5194-01A-02D-1429-08		49105114	106165446	26	24189											
CXorf66	347487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	139040297	139040297	+	Silent	SNP	G	G	A			TCGA-BP-5194-01A-02D-1429-08	TCGA-BP-5194-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b52c97e-fdd2-4ae2-b036-297feeb1c7e2	cc2ef7bc-8810-4162-b19a-65a940beac26	g.chrX:139040297G>A	ENST00000370540.1	-	2	191	c.168C>T	c.(166-168)atC>atT	p.I56I		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	56						integral component of membrane (GO:0016021)		p.I56I(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CAAAAACCATGATGATAATAC	0.318																																																1	Substitution - coding silent(1)	kidney(1)											201	194	196					X																	139040297		2203	4300	6503	SO:0001819	synonymous_variant	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.168C>T	X.37:g.139040297G>A				Silent	SNP	ENST00000370540.1	37	CCDS35411.1																																																																																				0.318	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		A	139040297	G	A	139040297	2	1	442	1	0	0	0	0	0	0	0	1	4120	1280	45	2		2	CXorf66	23	139040297	Silent	SNP	G	TCGA-BP-5194-01A-02D-1429-08	89935183	139040297	16230263	27	24190											
ANGPTL7	10218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11254587	11254587	+	Missense_Mutation	SNP	C	C	A	rs561062501	byFrequency	TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr1:11254587C>A	ENST00000376819.3	+	4	981	c.742C>A	c.(742-744)Cgc>Agc	p.R248S	ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	248	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)		p.R248S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CAACAGCTATCGCCTCTTCCT	0.517																																																1	Substitution - Missense(1)	kidney(1)											185	164	171					1																	11254587		2203	4300	6503	SO:0001583	missense	10218			Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"Fibrinogen C domain containing"	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.742C>A	1.37:g.11254587C>A	ENSP00000366015:p.Arg248Ser		B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896487	0.91962	.	.	ENSG00000171819	ENST00000376819	T	0.78246	-1.16	5.67	5.67	0.87782	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.048798	0.85682	D	0.000000	D	0.86940	0.6054	M	0.64630	1.985	0.58432	D	0.999991	D	0.71674	0.998	D	0.68192	0.956	D	0.87165	0.2217	10	0.66056	D	0.02	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	248	O43827	ANGL7_HUMAN	S	248	ENSP00000366015:R248S	ENSP00000366015:R248S	R	+	1	0	ANGPTL7	11177174	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.623000	0.54224	2.677000	0.91161	0.655000	0.94253	CGC		0.517	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		A	11254587	C	A	11254587	3	1	443	1	0	0	0	0	1	0	0	0	619	884	31	4	756	4	ANGPTL7	1	11254587	Missense_Mutation	SNP	C	TCGA-BP-5195-01A-02D-1429-08		11254587	237996034	1	24191											
PAFAH2	5051	broad.mit.edu;hgsc.bcm.edu	37	1	26288568	26288568	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr1:26288568T>G	ENST00000374282.3	-	11	1270	c.1091A>C	c.(1090-1092)aAa>aCa	p.K364T	PAFAH2_ENST00000374284.1_Missense_Mutation_p.K364T|RNU6-110P_ENST00000384508.1_RNA	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	364					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)	p.K364T(1)		NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGTCTTCTTTCAGGTCTGA	0.483																																																1	Substitution - Missense(1)	kidney(1)											118	113	114					1																	26288568		2203	4300	6503	SO:0001583	missense	5051			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"platelet-activating factor acetylhydrolase 2 (40kD)"			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.1091A>C	1.37:g.26288568T>G	ENSP00000363400:p.Lys364Thr		D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	CCDS270.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.113093	0.37339	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.42900	0.96;0.96	5.2	5.2	0.72013	.	0.419298	0.22569	N	0.058365	T	0.29588	0.0738	L	0.27053	0.805	0.27844	N	0.940986	B	0.31413	0.322	B	0.28553	0.091	T	0.20107	-1.0285	10	0.39692	T	0.17	-0.9662	11.7436	0.51807	0.0:0.0:0.0:1.0	.	364	Q99487	PAFA2_HUMAN	T	364	ENSP00000363400:K364T;ENSP00000363402:K364T	ENSP00000363400:K364T	K	-	2	0	PAFAH2	26161155	0.998000	0.40836	0.983000	0.44433	0.518000	0.34316	3.873000	0.56093	2.099000	0.63709	0.533000	0.62120	AAA		0.483	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		G	26288568	T	G	26288568	3	3	443	1	0	0	0	0	1	0	0	0	11389	1841	64	5	91	5	PAFAH2	1	26288568	Missense_Mutation	SNP	T	TCGA-BP-5195-01A-02D-1429-08	15033981	26288568	222962053	2	24192											
WASF2	10163	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27739130	27739130	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr1:27739130A>T	ENST00000430629.2	-	7	975	c.760T>A	c.(760-762)Tct>Act	p.S254T	WASF2_ENST00000536657.1_Missense_Mutation_p.S254T	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	254					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)	p.S254T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GAAGAAGCAGAGTCTGACTGT	0.502																																																1	Substitution - Missense(1)	kidney(1)											242	209	220					1																	27739130		2203	4300	6503	SO:0001583	missense	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.760T>A	1.37:g.27739130A>T	ENSP00000396211:p.Ser254Thr		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	CCDS304.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.727070	0.30593	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T	0.44083	0.93	5.51	3.08	0.35506	.	0.516039	0.21442	N	0.074477	T	0.21801	0.0525	N	0.17082	0.46	0.41284	D	0.986934	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.06023	-1.0850	10	0.10902	T	0.67	-9.0288	7.355	0.26714	0.7061:0.1504:0.0:0.1435	.	254;254	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	T	254	ENSP00000396211:S254T	ENSP00000396211:S254T	S	-	1	0	WASF2	27611717	1.000000	0.71417	0.974000	0.42286	0.903000	0.53119	1.605000	0.36815	0.460000	0.27045	0.455000	0.32223	TCT		0.502	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		T	27739130	A	T	27739130	3	4	443	1	0	0	0	0	1	0	0	0	17258	304	11	5	748	5	WASF2	1	27739130	Missense_Mutation	SNP	A	TCGA-BP-5195-01A-02D-1429-08	1450562	27739130	221511491	3	24193											
CHIA	27159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111861178	111861178	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr1:111861178C>A	ENST00000369740.1	+	9	896	c.793C>A	c.(793-795)Cct>Act	p.P265T	CHIA_ENST00000343320.6_Missense_Mutation_p.P265T|CHIA_ENST00000451398.2_Missense_Mutation_p.P104T|CHIA_ENST00000353665.6_Missense_Mutation_p.P104T|CHIA_ENST00000483391.1_Missense_Mutation_p.P104T|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000430615.1_Missense_Mutation_p.P157T	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	265					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.P265T(1)|p.P157T(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGTTGGATTCCCTACCTATGG	0.532																																																2	Substitution - Missense(2)	kidney(2)											152	139	143					1																	111861178		2203	4300	6503	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.793C>A	1.37:g.111861178C>A	ENSP00000358755:p.Pro265Thr		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182353	0.57800	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	4.84	4.84	0.62591	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.087573	0.45126	U	0.000395	T	0.35158	0.0922	H	0.96175	3.78	0.50632	D	0.999889	D	0.89917	1.0	D	0.83275	0.996	T	0.55127	-0.8189	10	0.87932	D	0	-11.0323	15.8109	0.78565	0.0:1.0:0.0:0.0	.	265	Q9BZP6	CHIA_HUMAN	T	209;104;265;265;104;104;104;157	ENSP00000387671:P209T;ENSP00000436946:P104T;ENSP00000358755:P265T;ENSP00000341828:P265T;ENSP00000390476:P104T;ENSP00000338970:P104T;ENSP00000433309:P104T;ENSP00000391132:P157T	ENSP00000341828:P265T	P	+	1	0	CHIA	111662701	1.000000	0.71417	0.998000	0.56505	0.740000	0.42216	2.009000	0.40903	2.396000	0.81511	0.563000	0.77884	CCT		0.532	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			A	111861178	C	A	111861178	3	1	443	1	0	0	0	0	1	0	0	0	3344	623	22	4	823	4	CHIA	1	111861178	Missense_Mutation	SNP	C	TCGA-BP-5195-01A-02D-1429-08	84122048	111861178	137389443	4	24194											
ASH1L	55870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155313396	155313396	+	Splice_Site	SNP	T	T	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr1:155313396T>C	ENST00000368346.3	-	23	8773	c.8134A>G	c.(8134-8136)Aaa>Gaa	p.K2712E	ASH1L_ENST00000392403.3_Splice_Site_p.K2707E|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2712	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.K2707E(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGCACGTACTTTTCATTCTTC	0.478																																																1	Substitution - Missense(1)	kidney(1)											118	114	115					1																	155313396		2203	4300	6503	SO:0001630	splice_region_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8135+1A>G	1.37:g.155313396T>C			Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	T	26.0	4.697307	0.88830	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.87256	-2.23;-2.23	4.93	4.93	0.64822	Bromo adjacent homology (BAH) domain (3);	0.044747	0.85682	D	0.000000	T	0.78329	0.4266	N	0.02539	-0.55	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.80764	0.994;0.99	D	0.84009	0.0347	10	0.33940	T	0.23	.	14.3956	0.67007	0.0:0.0:0.0:1.0	.	2712;2707	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	E	2712;2707	ENSP00000357330:K2712E;ENSP00000376204:K2707E	ENSP00000357330:K2712E	K	-	1	0	ASH1L	153580020	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.499000	0.81566	2.069000	0.61940	0.459000	0.35465	AAA		0.478	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	Missense_Mutation	C	155313396	T	C	155313396	5	2	443	1	0	0	0	0	0	0	1	0	1041	1855	64	3	799	3	ASH1L	1	155313396	Splice_Site	SNP	T	TCGA-BP-5195-01A-02D-1429-08	43452218	155313396	93937225	5	24195											
ITSN2	50618	broad.mit.edu;hgsc.bcm.edu	37	2	24494732	24494732	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:24494732C>G	ENST00000355123.4	-	19	2603	c.2160G>C	c.(2158-2160)caG>caC	p.Q720H	SCARNA21_ENST00000515996.1_RNA|ITSN2_ENST00000361999.3_Missense_Mutation_p.Q693H|ITSN2_ENST00000406921.3_Missense_Mutation_p.Q720H	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	720					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.Q720H(1)|p.Q719H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ttttttcttcctggagtcgct	0.343																																																2	Substitution - Missense(2)	kidney(2)											131	120	124					2																	24494732		2202	4300	6502	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2160G>C	2.37:g.24494732C>G	ENSP00000347244:p.Gln720His		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314889	0.23908	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.59772	1.49;0.24;1.49;0.69	4.44	3.54	0.40534	.	0.882358	0.08966	U	0.867995	T	0.68421	0.2999	L	0.47716	1.5	0.25144	N	0.990476	D;D;D	0.60575	0.988;0.988;0.98	D;D;D	0.72338	0.977;0.977;0.948	T	0.53961	-0.8364	10	0.45353	T	0.12	.	9.7321	0.40368	0.0:0.8881:0.0:0.1119	.	720;693;720	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	H	693;720;693;720	ENSP00000354561:Q693H;ENSP00000347244:Q720H;ENSP00000370250:Q693H;ENSP00000384499:Q720H	ENSP00000347244:Q720H	Q	-	3	2	ITSN2	24348236	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.751000	0.26348	1.119000	0.41883	0.462000	0.41574	CAG		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		G	24494732	C	G	24494732	3	3	443	1	0	0	0	0	1	0	0	0	7929	680	24	4	3072	4	ITSN2	2	24494732	Missense_Mutation	SNP	C	TCGA-BP-5195-01A-02D-1429-08		24494732	218704641	6	24196											
CALM2	805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	47389525	47389525	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:47389525C>T	ENST00000272298.7	-	4	342	c.185G>A	c.(184-186)gGc>gAc	p.G62D	CALM2_ENST00000409563.1_Missense_Mutation_p.G109D|CALM2_ENST00000484408.1_5'UTR|RP11-761B3.1_ENST00000422269.1_Intron	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	62	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.0?(2)|p.G62D(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GTCAATTGTGCCATTACCTGA	0.358																																																3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(1)											109	99	102					2																	47389525		2203	4300	6503	SO:0001583	missense	805				CCDS1832.1	2p21.3-p21.1	2013-02-25			ENSG00000143933	ENSG00000143933		"EF-hand domain containing", "Endogenous ligands"	1445	protein-coding gene	gene with protein product	"prepro-calmodulin 2"	114182					Standard	NM_001743		Approved	PHKD, CAMII	uc002rvt.2	P62158	OTTHUMG00000128850	ENST00000272298.7:c.185G>A	2.37:g.47389525C>T	ENSP00000272298:p.Gly62Asp		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000272298.7	37	CCDS1832.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097327	0.76870	.	.	ENSG00000143933	ENST00000272298;ENST00000456319;ENST00000409563	D;D;D	0.83837	-1.77;-1.77;-1.77	5.73	5.73	0.89815	.	0.054209	0.64402	N	0.000001	D	0.90772	0.7103	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91308	0.5072	7	0.87932	D	0	.	19.4812	0.95011	0.0:1.0:0.0:0.0	.	.	.	.	D	62;100;109	ENSP00000272298:G62D;ENSP00000411440:G100D;ENSP00000387065:G109D	ENSP00000272298:G62D	G	-	2	0	CALM2	47243029	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.782000	0.85680	2.697000	0.92050	0.591000	0.81541	GGC		0.358	CALM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250789.3	NM_001743		T	47389525	C	T	47389525	3	4	443	1	0	0	0	0	1	0	0	0	2587	739	26	2	276	2	CALM2	2	47389525	Missense_Mutation	SNP	C	TCGA-BP-5195-01A-02D-1429-08	22894793	47389525	195809848	7	24197											
GYPC	2995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	127453643	127453643	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:127453643T>G	ENST00000259254.4	+	4	643	c.312T>G	c.(310-312)agT>agG	p.S104R	GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000356887.7_Missense_Mutation_p.S83R|GYPC_ENST00000409836.3_Missense_Mutation_p.S85R	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	104						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S104R(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		TTGCTGAGAGTGCAGATGCAG	0.552																																					Melanoma(110;806 1600 6704 9981 33404)											1	Substitution - Missense(1)	kidney(1)											158	125	136					2																	127453643		2203	4300	6503	SO:0001583	missense	2995				CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"CD molecules", "Blood group antigens"	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.312T>G	2.37:g.127453643T>G	ENSP00000259254:p.Ser104Arg		B2R522|Q53SV9|Q92642	Missense_Mutation	SNP	ENST00000259254.4	37	CCDS2136.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.882607	0.72410	.	.	ENSG00000136732	ENST00000259254;ENST00000356887;ENST00000409836	T;T;T	0.19938	2.54;2.11;2.58	5.22	-3.88	0.04205	.	.	.	.	.	T	0.37812	0.1017	M	0.66506	2.035	0.39652	D	0.970489	D;D	0.67145	0.996;0.996	D;D	0.66497	0.924;0.944	T	0.48234	-0.9053	9	0.66056	D	0.02	-0.0897	13.4895	0.61386	0.0:0.3079:0.0:0.6921	.	83;104	P04921-2;P04921	.;GLPC_HUMAN	R	104;83;85	ENSP00000259254:S104R;ENSP00000349354:S83R;ENSP00000386904:S85R	ENSP00000259254:S104R	S	+	3	2	GYPC	127170113	0.000000	0.05858	0.252000	0.24328	0.953000	0.61014	-3.643000	0.00405	-0.638000	0.05509	0.459000	0.35465	AGT		0.552	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254297.1	NM_002101		G	127453643	T	G	127453643	3	3	443	1	0	0	0	0	1	0	0	0	6912	1693	59	5	326	5	GYPC	2	127453643	Missense_Mutation	SNP	T	TCGA-BP-5195-01A-02D-1429-08	80064118	127453643	115745730	8	24198											
KCNH7	90134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	163695012	163695012	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:163695012C>G	ENST00000332142.5	-	1	116	c.17G>C	c.(16-18)gGg>gCg	p.G6A	KCNH7_ENST00000328032.4_Missense_Mutation_p.G6A	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	6					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G6A(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGCCACATGCCCCCTGCGCAC	0.587																																					GBM(196;1492 2208 17507 24132 45496)											2	Substitution - Missense(2)	kidney(2)											118	104	109					2																	163695012		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.17G>C	2.37:g.163695012C>G	ENSP00000331727:p.Gly6Ala		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520595	0.85495	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99898	-6.86;-7.61	5.53	5.53	0.82687	.	0.055725	0.64402	D	0.000001	D	0.99896	0.9950	M	0.87971	2.92	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.87578	0.997;0.998	D	0.96343	0.9252	10	0.87932	D	0	.	18.4516	0.90705	0.0:1.0:0.0:0.0	.	6;6	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	A	6	ENSP00000331727:G6A;ENSP00000333781:G6A	ENSP00000333781:G6A	G	-	2	0	KCNH7	163403258	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.461000	0.80834	2.603000	0.88011	0.585000	0.79938	GGG		0.587	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		G	163695012	C	G	163695012	3	3	443	1	0	0	0	0	1	0	0	0	8039	623	22	4	3703	4	KCNH7	2	163695012	Missense_Mutation	SNP	C	TCGA-BP-5195-01A-02D-1429-08	36241369	163695012	79504361	9	24199											
SESTD1	91404	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179979860	179979860	+	Missense_Mutation	SNP	T	T	C	rs202072498	byFrequency	TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr2:179979860T>C	ENST00000428443.3	-	16	2087	c.1771A>G	c.(1771-1773)Aca>Gca	p.T591A		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	591							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.T591A(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GATGCTATTGTAAATTGTTTC	0.408													T|||	2	0.000399361	0.0	0.0	5008	,	,		17526	0.002		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											108	95	99					2																	179979860		2203	4300	6503	SO:0001583	missense	91404			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1771A>G	2.37:g.179979860T>C	ENSP00000415332:p.Thr591Ala		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	16.12	3.032190	0.54790	.	.	ENSG00000187231	ENST00000428443	T	0.34275	1.37	5.82	5.82	0.92795	.	0.092270	0.64402	D	0.000001	T	0.32194	0.0821	N	0.19112	0.55	0.58432	D	0.999996	B;D	0.53312	0.243;0.959	B;P	0.47744	0.05;0.556	T	0.04413	-1.0953	9	.	.	.	-14.0879	16.1698	0.81801	0.0:0.0:0.0:1.0	.	591;591	Q86VW0;B3KTX3	SESD1_HUMAN;.	A	591	ENSP00000415332:T591A	.	T	-	1	0	SESTD1	179688105	1.000000	0.71417	0.293000	0.24932	0.995000	0.86356	7.672000	0.83956	2.207000	0.71202	0.533000	0.62120	ACA		0.408	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		C	179979860	T	C	179979860	3	2	443	1	0	0	0	0	1	0	0	0	14133	1638	57	3	331	3	SESTD1	2	179979860	Missense_Mutation	SNP	T	TCGA-BP-5195-01A-02D-1429-08	16284848	179979860	63219513	10	24200											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10183863	10183863	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr3:10183863G>A	ENST00000256474.2	+	1	1172	c.332G>A	c.(331-333)aGc>aAc	p.S111N	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.S111N	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	111	Involved in binding to CCT complex.		S -> C (in VHLD; type II).|S -> N (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S111N(5)|p.S111I(2)|p.S111fs*49(1)|p.?(1)|p.I109_R113del(1)|p.S111fs*22(1)|p.S111fs*45(1)|p.H110_S111del(1)|p.S111_Y112del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCATCCACAGCTACCGAGGT	0.692		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	14	Substitution - Missense(7)|Deletion - In frame(3)|Insertion - Frameshift(2)|Deletion - Frameshift(1)|Unknown(1)	kidney(14)	GRCh37	CM951280|HM971583	VHL	M							10	12	11					3																	10183863		1804	3758	5562	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.332G>A	3.37:g.10183863G>A	ENSP00000256474:p.Ser111Asn		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342270	0.61073	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99760	-6.66;-6.66	5.17	3.37	0.38596	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.096185	0.64402	N	0.000001	D	0.98532	0.9510	L	0.36672	1.1	0.21220	N	0.999751	B;B	0.27229	0.172;0.143	B;B	0.31686	0.134;0.091	D	0.99293	1.0899	10	0.54805	T	0.06	-5.879	4.2645	0.10757	0.0854:0.1565:0.5963:0.1618	.	111;111	P40337-2;P40337	.;VHL_HUMAN	N	111;111;29	ENSP00000256474:S111N;ENSP00000344757:S111N	ENSP00000256474:S111N	S	+	2	0	VHL	10158863	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.866000	0.56040	0.580000	0.29522	0.479000	0.44913	AGC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183863	G	A	10183863	3	1	443	1	0	0	0	0	1	0	0	0	17167	971	34	2	334	2	VHL	3	10183863	Missense_Mutation	SNP	G	TCGA-BP-5195-01A-02D-1429-08		10183863	187838567	11	24201											
AMBN	258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71469169	71469169	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr4:71469169A>C	ENST00000322937.6	+	11	848	c.745A>C	c.(745-747)Aat>Cat	p.N249H	AMBN_ENST00000449493.2_Missense_Mutation_p.N234H	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	249					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.N249H(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TTTTGGAGCAAATCAATTGGT	0.274																																																1	Substitution - Missense(1)	kidney(1)											72	71	71					4																	71469169		2201	4298	6499	SO:0001583	missense	258			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.745A>C	4.37:g.71469169A>C	ENSP00000313809:p.Asn249His		Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900661	0.33535	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.40476	1.03;1.03	5.92	5.92	0.95590	.	0.155282	0.47093	D	0.000248	T	0.62122	0.2402	M	0.68952	2.095	0.36819	D	0.886303	D	0.89917	1.0	D	0.97110	1.0	T	0.70550	-0.4841	10	0.72032	D	0.01	-14.5073	12.7511	0.57308	1.0:0.0:0.0:0.0	.	249	Q9NP70	AMBN_HUMAN	H	249;248;234	ENSP00000313809:N249H;ENSP00000391234:N234H	ENSP00000313809:N249H	N	+	1	0	AMBN	71503758	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	4.594000	0.61041	2.267000	0.75376	0.383000	0.25322	AAT		0.274	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		C	71469169	A	C	71469169	3	2	443	1	0	0	0	0	1	0	0	0	563	14	1	5	787	5	AMBN	4	71469169	Missense_Mutation	SNP	A	TCGA-BP-5195-01A-02D-1429-08		71469169	119685107	12	24202											
GPBP1	65056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	56558502	56558502	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr5:56558502A>G	ENST00000506184.2	+	12	2450	c.1345A>G	c.(1345-1347)Agc>Ggc	p.S449G	GPBP1_ENST00000454432.2_Missense_Mutation_p.S469G|GPBP1_ENST00000511209.1_Missense_Mutation_p.S441G|GPBP1_ENST00000514387.2_Missense_Mutation_p.S278G|GPBP1_ENST00000424459.3_Missense_Mutation_p.S469G|GPBP1_ENST00000538707.1_Missense_Mutation_p.S456G|GPBP1_ENST00000264779.6_Missense_Mutation_p.S456G			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	449					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S449G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GTGGAAGAACAGCACTTTCAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											163	148	153					5																	56558502		2203	4300	6503	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1345A>G	5.37:g.56558502A>G	ENSP00000421202:p.Ser449Gly		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724509	0.68959	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	6.07	6.07	0.98685	.	0.127775	0.64402	D	0.000001	T	0.54303	0.1850	L	0.55481	1.735	0.42433	D	0.992685	D;B;B;B	0.67145	0.996;0.229;0.229;0.143	P;B;B;B	0.55999	0.789;0.117;0.117;0.117	T	0.56860	-0.7909	10	0.62326	D	0.03	-7.7469	15.2117	0.73230	1.0:0.0:0.0:0.0	.	469;456;441;449	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	G	469;278;449;469;441;456;456	ENSP00000401596:S469G;ENSP00000421709:S278G;ENSP00000421202:S449G;ENSP00000403522:S469G;ENSP00000422337:S441G;ENSP00000264779:S456G;ENSP00000440090:S456G	ENSP00000264779:S456G	S	+	1	0	GPBP1	56594259	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.549000	0.60726	2.326000	0.78906	0.533000	0.62120	AGC		0.383	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		G	56558502	A	G	56558502	3	3	443	1	0	0	0	0	1	0	0	0	6597	188	7	3	1408	3	GPBP1	5	56558502	Missense_Mutation	SNP	A	TCGA-BP-5195-01A-02D-1429-08		56558502	124356758	13	24203											
C5orf44	80006	broad.mit.edu;hgsc.bcm.edu	37	5	64946709	64946709	+	Splice_Site	SNP	G	G	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr5:64946709G>C	ENST00000399438.3	+	6	846	c.501G>C	c.(499-501)caG>caC	p.Q167H	TRAPPC13_ENST00000545191.1_Splice_Site_p.Q167H|TRAPPC13_ENST00000505553.1_Splice_Site_p.Q167H|TRAPPC13_ENST00000231526.4_Splice_Site_p.Q167H|TRAPPC13_ENST00000438419.2_Splice_Site_p.Q167H	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	167								p.Q167H(2)									TCAAATTTCAGGTATTGAATA	0.338																																																2	Substitution - Missense(2)	kidney(2)											62	59	60					5																	64946709		1801	4067	5868	SO:0001630	splice_region_variant	80006				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"Trs65-related"		"chromosome 5 open reading frame 44"	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.501+1G>C	5.37:g.64946709G>C			Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	ENST00000399438.3	37	CCDS47222.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429931	0.83776	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	4.97	4.97	0.65823	.	0.051833	0.85682	D	0.000000	D	0.83977	0.5371	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.71184	0.952;0.965;0.952;0.972	D	0.86852	0.2024	9	0.72032	D	0.01	-24.7457	18.0076	0.89214	0.0:0.0:1.0:0.0	.	167;167;167;167	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	H	167	.	ENSP00000231526:Q167H	Q	+	3	2	C5orf44	64982465	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.722000	0.91452	2.574000	0.86865	0.591000	0.81541	CAG		0.338	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941	Missense_Mutation	C	64946709	G	C	64946709	5	2	443	1	0	0	0	0	0	0	1	0	2305	1014	35	4	523	4	C5orf44	5	64946709	Splice_Site	SNP	G	TCGA-BP-5195-01A-02D-1429-08	8388207	64946709	115968551	14	24204											
SNRNP48	154007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7594021	7594021	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr6:7594021T>A	ENST00000342415.5	+	2	270	c.211T>A	c.(211-213)Ttg>Atg	p.L71M		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	71					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)	p.L71M(1)		kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TAAATCATCTTTGGCAAAGCA	0.308																																																1	Substitution - Missense(1)	kidney(1)											102	102	102					6																	7594021		2203	4300	6503	SO:0001583	missense	154007			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.211T>A	6.37:g.7594021T>A	ENSP00000339834:p.Leu71Met		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.068863	0.55539	.	.	ENSG00000168566	ENST00000342415;ENST00000397475	T	0.60424	0.19	5.11	1.42	0.22433	TRM13/UPF0224 family, U11-48K-like CHHC zinc finger domain (1);	0.140416	0.49916	D	0.000128	T	0.55000	0.1893	L	0.57536	1.79	0.36058	D	0.841251	D	0.89917	1.0	D	0.91635	0.999	T	0.55560	-0.8122	10	0.42905	T	0.14	-10.861	7.5034	0.27530	0.0:0.3597:0.0:0.6403	.	71	Q6IEG0	SNR48_HUMAN	M	71	ENSP00000339834:L71M	ENSP00000339834:L71M	L	+	1	2	SNRNP48	7539020	0.114000	0.22134	0.739000	0.30968	0.933000	0.57130	-0.125000	0.10579	0.066000	0.16515	0.533000	0.62120	TTG		0.308	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		A	7594021	T	A	7594021	3	1	443	1	0	0	0	0	1	0	0	0	14863	1838	64	5	217	5	SNRNP48	6	7594021	Missense_Mutation	SNP	T	TCGA-BP-5195-01A-02D-1429-08		7594021	163521046	15	24205											
FHL5	9457	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	97052642	97052642	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr6:97052642A>T	ENST00000326771.2	+	4	556	c.176A>T	c.(175-177)gAc>gTc	p.D59V	FHL5_ENST00000541107.1_Missense_Mutation_p.D59V	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	59	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D59V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGTTACAAAGACCGGCACTGG	0.433																																																1	Substitution - Missense(1)	kidney(1)											85	79	81					6																	97052642		2203	4300	6503	SO:0001583	missense	9457			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.176A>T	6.37:g.97052642A>T	ENSP00000326022:p.Asp59Val		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314430	0.60524	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.89552	-2.53;-2.53;-2.53	5.36	-0.234	0.13074	Zinc finger, LIM-type (5);	0.797544	0.10918	N	0.619819	D	0.93468	0.7916	H	0.95917	3.74	0.58432	D	0.999994	P	0.46912	0.886	P	0.56278	0.795	D	0.92915	0.6350	10	0.87932	D	0	.	11.2208	0.48853	0.3644:0.0:0.6356:0.0	.	59	Q5TD97	FHL5_HUMAN	V	59	ENSP00000442357:D59V;ENSP00000326022:D59V;ENSP00000396390:D59V	ENSP00000326022:D59V	D	+	2	0	FHL5	97159363	1.000000	0.71417	0.880000	0.34516	0.995000	0.86356	2.489000	0.45285	-0.020000	0.14032	-0.250000	0.11733	GAC		0.433	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		T	97052642	A	T	97052642	3	4	443	1	0	0	0	0	1	0	0	0	5883	275	10	5	182	5	FHL5	6	97052642	Missense_Mutation	SNP	A	TCGA-BP-5195-01A-02D-1429-08	89458621	97052642	74062425	16	24206											
ZNF804B	219578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	88963886	88963886	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr7:88963886T>G	ENST00000333190.4	+	4	2199	c.1590T>G	c.(1588-1590)gaT>gaG	p.D530E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	530							metal ion binding (GO:0046872)	p.D530E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCAAGAAGATTATCAATATC	0.363										HNSCC(36;0.09)																																						1	Substitution - Missense(1)	kidney(1)											46	48	47					7																	88963886		2202	4299	6501	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1590T>G	7.37:g.88963886T>G	ENSP00000329638:p.Asp530Glu		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953311	0.34471	.	.	ENSG00000182348	ENST00000333190	T	0.09538	2.97	5.35	1.44	0.22558	.	0.434172	0.23916	N	0.043288	T	0.07279	0.0184	L	0.38531	1.155	0.23282	N	0.997984	B	0.18461	0.028	B	0.15052	0.012	T	0.30563	-0.9974	10	0.66056	D	0.02	-8.4458	2.5641	0.04778	0.2554:0.0689:0.1346:0.541	.	530	A4D1E1	Z804B_HUMAN	E	530	ENSP00000329638:D530E	ENSP00000329638:D530E	D	+	3	2	ZNF804B	88801822	1.000000	0.71417	0.801000	0.32222	0.605000	0.37080	0.561000	0.23515	0.081000	0.16988	0.533000	0.62120	GAT		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		G	88963886	T	G	88963886	3	3	443	1	0	0	0	0	1	0	0	0	18176	1490	52	5	1604	5	ZNF804B	7	88963886	Missense_Mutation	SNP	T	TCGA-BP-5195-01A-02D-1429-08		88963886	70174777	17	24207											
MTERF	7978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91503200	91503200	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr7:91503200A>C	ENST00000351870.3	-	3	1001	c.908T>G	c.(907-909)cTt>cGt	p.L303R	MTERF_ENST00000419292.1_Missense_Mutation_p.L283R|MTERF_ENST00000406735.2_Missense_Mutation_p.L283R	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		303					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.L303R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			AGTACATCCAAGAGAAAACAG	0.408																																																1	Substitution - Missense(1)	kidney(1)											69	66	67					7																	91503200		2203	4300	6503	SO:0001583	missense	7978																														ENST00000351870.3:c.908T>G	7.37:g.91503200A>C	ENSP00000248643:p.Leu303Arg		A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876709	0.51801	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.16457	2.34;2.34;2.34	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000005	T	0.35128	0.0921	M	0.68952	2.095	0.44677	D	0.997665	D	0.71674	0.998	D	0.65773	0.938	T	0.05784	-1.0864	10	0.52906	T	0.07	-6.6072	10.0087	0.41972	0.8483:0.0:0.0:0.1517	.	303	Q99551	MTERF_HUMAN	R	283;303;283	ENSP00000414116:L283R;ENSP00000248643:L303R;ENSP00000384986:L283R	ENSP00000248643:L303R	L	-	2	0	MTERF	91341136	1.000000	0.71417	0.996000	0.52242	0.852000	0.48524	3.922000	0.56462	2.139000	0.66308	0.477000	0.44152	CTT		0.408	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1			C	91503200	A	C	91503200	3	2	443	1	0	0	0	0	1	0	0	0	9920	72	3	5	295	5	MTERF	7	91503200	Missense_Mutation	SNP	A	TCGA-BP-5195-01A-02D-1429-08	2539314	91503200	67635463	18	24208											
WRN	7486	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	30977877	30977877	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr8:30977877G>A	ENST00000298139.5	+	21	2816	c.2567G>A	c.(2566-2568)gGt>gAt	p.G856D		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	856	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.G856D(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GGTAGAGCTGGTCGTGATGGA	0.393			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	1	Substitution - Missense(1)	kidney(1)											134	127	129					8																	30977877		2203	4299	6502	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2567G>A	8.37:g.30977877G>A	ENSP00000298139:p.Gly856Asp		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842471	0.91197	.	.	ENSG00000165392	ENST00000298139	D	0.81821	-1.54	5.76	5.76	0.90799	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95529	0.8547	H	0.99897	4.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97392	0.9990	10	0.87932	D	0	-14.8822	19.9192	0.97079	0.0:0.0:1.0:0.0	.	266;856	Q59F09;Q14191	.;WRN_HUMAN	D	856	ENSP00000298139:G856D	ENSP00000298139:G856D	G	+	2	0	WRN	31097419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.146000	0.89626	2.882000	0.98803	0.655000	0.94253	GGT		0.393	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			A	30977877	G	A	30977877	3	1	443	1	0	0	0	0	1	0	0	0	17407	1261	44	2	2645	2	WRN	8	30977877	Missense_Mutation	SNP	G	TCGA-BP-5195-01A-02D-1429-08		30977877	115386145	19	24209											
MTSS1	9788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125568525	125568525	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr8:125568525G>A	ENST00000518547.1	-	12	1825	c.1352C>T	c.(1351-1353)gCa>gTa	p.A451V	MTSS1_ENST00000325064.5_Missense_Mutation_p.A455V|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.A169V|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.A225V|MTSS1_ENST00000378017.3_Missense_Mutation_p.A426V|MTSS1_ENST00000431961.2_Missense_Mutation_p.A169V|MTSS1_ENST00000524090.1_Missense_Mutation_p.A341V	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	451					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.A451V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCCTCAGCTGCTGCAGGTGG	0.632																																					Esophageal Squamous(160;622 1893 3862 8546 12509)											1	Substitution - Missense(1)	kidney(1)											85	71	76					8																	125568525		2203	4300	6503	SO:0001583	missense	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1352C>T	8.37:g.125568525G>A	ENSP00000429064:p.Ala451Val		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	G	9.899	1.206258	0.22205	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090	T;T;T;T;T;T;T	0.32023	1.48;1.48;1.49;1.48;1.48;1.49;1.47	4.82	3.93	0.45458	.	0.938659	0.08996	N	0.863739	T	0.18718	0.0449	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;P	0.36874	0.039;0.363;0.102;0.005;0.009;0.572	B;B;B;B;B;B	0.33960	0.025;0.073;0.034;0.002;0.014;0.173	T	0.13335	-1.0513	10	0.28530	T	0.3	-1.5997	10.3443	0.43897	0.0:0.146:0.7026:0.1514	.	341;225;426;451;426;169	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2	.;.;.;MTSS1_HUMAN;.;.	V	426;451;169;225;455;169;341	ENSP00000367256:A426V;ENSP00000429064:A451V;ENSP00000346119:A169V;ENSP00000378884:A225V;ENSP00000322804:A455V;ENSP00000393606:A169V;ENSP00000428319:A341V	ENSP00000322804:A455V	A	-	2	0	MTSS1	125637706	0.147000	0.22687	0.001000	0.08648	0.010000	0.07245	2.852000	0.48310	0.991000	0.38814	0.455000	0.32223	GCA		0.632	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		A	125568525	G	A	125568525	3	1	443	1	0	0	0	0	1	0	0	0	9964	1319	46	2	927	2	MTSS1	8	125568525	Missense_Mutation	SNP	G	TCGA-BP-5195-01A-02D-1429-08	94590648	125568525	20795497	20	24210											
GTF3C5	9328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	135926204	135926204	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr9:135926204A>G	ENST00000372097.5	+	4	930	c.607A>G	c.(607-609)Aat>Gat	p.N203D	GTF3C5_ENST00000372108.5_Missense_Mutation_p.N203D|GTF3C5_ENST00000372099.6_Missense_Mutation_p.N194D|GTF3C5_ENST00000372095.5_Missense_Mutation_p.N78D|GTF3C5_ENST00000342018.8_Missense_Mutation_p.N203D	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	203					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.N203D(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CTCAGGTGAGAATCTGATTGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											66	63	64					9																	135926204		2203	4300	6503	SO:0001583	missense	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.607A>G	9.37:g.135926204A>G	ENSP00000361169:p.Asn203Asp		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166975	0.57476	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697	T;T;T;T	0.47177	0.86;0.85;0.85;0.86	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.84082	2.675	0.47819	D	0.999521	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.71656	0.967;0.919;0.974	T	0.67654	-0.5615	10	0.20519	T	0.43	-8.5643	14.1611	0.65448	1.0:0.0:0.0:0.0	.	78;203;203	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8	.;.;TF3C5_HUMAN	D	203;156;194;78;53;203;203;78	ENSP00000361169:N203D;ENSP00000361171:N194D;ENSP00000361180:N203D;ENSP00000339530:N203D	ENSP00000339530:N203D	N	+	1	0	GTF3C5	134916025	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	8.565000	0.90730	1.934000	0.56057	0.459000	0.35465	AAT		0.607	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		G	135926204	A	G	135926204	3	3	443	1	0	0	0	0	1	0	0	0	6878	246	9	3	621	3	GTF3C5	9	135926204	Missense_Mutation	SNP	A	TCGA-BP-5195-01A-02D-1429-08		135926204	5287227	21	24211											
PITRM1	10531	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	3209166	3209166	+	Nonsense_Mutation	SNP	A	A	C	rs376035210		TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr10:3209166A>C	ENST00000224949.4	-	3	262	c.228T>G	c.(226-228)taT>taG	p.Y76*	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Nonsense_Mutation_p.Y76*|PITRM1_ENST00000451104.2_Nonsense_Mutation_p.Y44*|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	76					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Y76*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CCAGGTGTAAATACCTGGCTC	0.428																																																1	Substitution - Nonsense(1)	kidney(1)											76	76	76					10																	3209166		1946	4134	6080	SO:0001587	stop_gained	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.228T>G	10.37:g.3209166A>C	ENSP00000224949:p.Tyr76*		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Nonsense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	a	15.28	2.788138	0.49997	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	.	.	.	4.91	-2.65	0.06095	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6524	0.56768	0.363:0.0:0.637:0.0	.	.	.	.	X	76;69;76;44	.	ENSP00000224949:Y76X	Y	-	3	2	PITRM1	3199166	0.993000	0.37304	0.004000	0.12327	0.136000	0.21042	0.211000	0.17474	-0.523000	0.06409	-0.464000	0.05259	TAT		0.428	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			C	3209166	A	C	3209166	4	2	443	1	0	0	0	0	0	1	0	0	11955	108	4	5	2985	5	PITRM1	10	3209166	Nonsense_Mutation	SNP	A	TCGA-BP-5195-01A-02D-1429-08		3209166	132325581	22	24212											
ANKRD30A	91074	broad.mit.edu;hgsc.bcm.edu	37	10	37418819	37418819	+	Splice_Site	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr10:37418819A>G	ENST00000602533.1	+	2	152		c.e2-1		ANKRD30A_ENST00000361713.1_Splice_Site|ANKRD30A_ENST00000374660.1_Splice_Site			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCACTCTCGTAGGACTGCTCT	0.448																																																1	Unknown(1)	kidney(1)											43	40	41					10																	37418819		1906	4135	6041	SO:0001630	splice_region_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.54-1A>G	10.37:g.37418819A>G			Q5W025	Splice_Site	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	a	9.107	1.005547	0.19199	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	2.0	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9309	0.19138	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD30A	37458825	1.000000	0.71417	0.201000	0.23476	0.026000	0.11368	5.708000	0.68377	0.917000	0.36895	0.234000	0.17832	.		0.448	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	Intron	G	37418819	A	G	37418819	5	3	443	1	0	0	0	0	0	0	1	0	658	434	15	3	58	3	ANKRD30A	10	37418819	Splice_Site	SNP	A	TCGA-BP-5195-01A-02D-1429-08	34209653	37418819	98115928	23	24213											
ATRNL1	26033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	117024695	117024695	+	Silent	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr10:117024695A>G	ENST00000355044.3	+	11	1839	c.1713A>G	c.(1711-1713)ccA>ccG	p.P571P		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	571					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.P571P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAATACTACCAAAACCAAATC	0.294																																																1	Substitution - coding silent(1)	kidney(1)											100	104	103					10																	117024695		2203	4296	6499	SO:0001819	synonymous_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1713A>G	10.37:g.117024695A>G			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	CCDS7592.1																																																																																				0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		G	117024695	A	G	117024695	2	3	443	1	0	0	0	0	0	0	0	1	1207	117	5	3		3	ATRNL1	10	117024695	Silent	SNP	A	TCGA-BP-5195-01A-02D-1429-08	79605876	117024695	18510052	24	24214											
PNLIP	5406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	118318744	118318744	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr10:118318744G>T	ENST00000369221.2	+	10	1037	c.1009G>T	c.(1009-1011)Gat>Tat	p.D337Y		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	337					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.D337Y(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GAAAACAAATGATGTGGGCCA	0.368																																																2	Substitution - Missense(2)	kidney(2)											112	110	110					10																	118318744		2203	4300	6503	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1009G>T	10.37:g.118318744G>T	ENSP00000358223:p.Asp337Tyr		Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470727	0.26423	.	.	ENSG00000175535	ENST00000369221	D	0.90620	-2.7	6.05	-1.87	0.07737	Lipase, N-terminal (1);	2.171220	0.01579	N	0.020968	T	0.79100	0.4389	N	0.04636	-0.2	0.09310	N	1	P	0.35872	0.525	B	0.35240	0.198	T	0.73316	-0.4021	10	0.72032	D	0.01	.	5.3492	0.16026	0.3715:0.0:0.4224:0.206	.	337	P16233	LIPP_HUMAN	Y	337	ENSP00000358223:D337Y	ENSP00000358223:D337Y	D	+	1	0	PNLIP	118308734	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.049000	0.14099	-0.064000	0.13043	-0.143000	0.13931	GAT		0.368	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		T	118318744	G	T	118318744	3	4	443	1	0	0	0	0	1	0	0	0	12151	1290	45	4	1043	4	PNLIP	10	118318744	Missense_Mutation	SNP	G	TCGA-BP-5195-01A-02D-1429-08	1294049	118318744	17216003	25	24215											
KRTAP5-1	387264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1605898	1605898	+	Silent	SNP	C	C	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:1605898C>T	ENST00000382171.2	-	1	615	c.582G>A	c.(580-582)aaG>aaA	p.K194K	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	194	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.K194K(1)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAACCCCCCTTGGATCCCC	0.672																																																1	Substitution - coding silent(1)	kidney(1)											41	53	49					11																	1605898		2202	4298	6500	SO:0001819	synonymous_variant	387264			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.582G>A	11.37:g.1605898C>T				Silent	SNP	ENST00000382171.2	37	CCDS31330.1																																																																																				0.672	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		T	1605898	C	T	1605898	2	4	443	1	0	0	0	0	0	0	0	1	8560	680	24	2		2	KRTAP5-1	11	1605898	Silent	SNP	C	TCGA-BP-5195-01A-02D-1429-08		1605898	133400618	26	24216											
OR52E4	390081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5906001	5906001	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:5906001C>T	ENST00000316987.2	+	1	501	c.479C>T	c.(478-480)cCa>cTa	p.P160L		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P160L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGTAACCCCATTTGTGTTT	0.493																																																1	Substitution - Missense(1)	kidney(1)											153	136	142					11																	5906001		2201	4296	6497	SO:0001583	missense	390081			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.479C>T	11.37:g.5906001C>T	ENSP00000321426:p.Pro160Leu		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032254	0.54790	.	.	ENSG00000180974	ENST00000316987	T	0.44482	0.92	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000141	T	0.59500	0.2198	M	0.84683	2.71	0.27107	N	0.962469	P	0.40681	0.727	P	0.50825	0.651	T	0.59643	-0.7416	10	0.87932	D	0	.	12.349	0.55136	0.0:0.9179:0.0:0.0821	.	160	Q8NGH9	O52E4_HUMAN	L	160	ENSP00000321426:P160L	ENSP00000321426:P160L	P	+	2	0	OR52E4	5862577	0.000000	0.05858	0.958000	0.39756	0.945000	0.59286	0.848000	0.27710	1.390000	0.46547	0.643000	0.83706	CCA		0.493	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		T	5906001	C	T	5906001	3	4	443	1	0	0	0	0	1	0	0	0	11118	594	21	2	481	2	OR52E4	11	5906001	Missense_Mutation	SNP	C	TCGA-BP-5195-01A-02D-1429-08	4300103	5906001	129100515	27	24217											
SOX6	55553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	16133398	16133398	+	Silent	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:16133398A>G	ENST00000352083.6	-	7	926	c.849T>C	c.(847-849)gcT>gcC	p.A283A	SOX6_ENST00000527619.1_Silent_p.A286A|SOX6_ENST00000528252.1_Silent_p.A283A|SOX6_ENST00000528429.1_Silent_p.A283A|SOX6_ENST00000396356.3_Silent_p.A283A|SOX6_ENST00000316399.6_Silent_p.A283A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	283	Poly-Ala.				astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A286A(1)|p.A283A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GTTGGGCAGCAGCAGCTGCTG	0.488																																																2	Substitution - coding silent(2)	kidney(2)											82	84	83					11																	16133398		2200	4294	6494	SO:0001819	synonymous_variant	55553			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.849T>C	11.37:g.16133398A>G			Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37																																																																																					0.488	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		G	16133398	A	G	16133398	2	3	443	1	0	0	0	0	0	0	0	1	14961	175	7	3		3	SOX6	11	16133398	Silent	SNP	A	TCGA-BP-5195-01A-02D-1429-08	10227397	16133398	118873118	28	24218											
DGKZ	8525	broad.mit.edu;hgsc.bcm.edu	37	11	46389268	46389268	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:46389268G>A	ENST00000454345.1	+	4	1029	c.904G>A	c.(904-906)Ggg>Agg	p.G302R	DGKZ_ENST00000318201.8_Missense_Mutation_p.G113R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.G113R|DGKZ_ENST00000456247.2_Missense_Mutation_p.G113R|DGKZ_ENST00000527911.1_Missense_Mutation_p.G113R|DGKZ_ENST00000395574.3_Missense_Mutation_p.G79R|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000343674.6_Missense_Mutation_p.G130R|DGKZ_ENST00000532868.2_Missense_Mutation_p.G117R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	302					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.G113R(1)|p.G130R(1)|p.G302R(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CTGCTACGTTGGGGAGCAGTA	0.637											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				3	Substitution - Missense(3)	kidney(3)											125	102	109					11																	46389268		2202	4299	6501	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.904G>A	11.37:g.46389268G>A	ENSP00000412178:p.Gly302Arg	938	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	35	5.558321	0.96514	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	D;T;T;T;D;T;T;T;T	0.84146	-1.81;2.54;2.6;3.53;-1.81;2.41;2.44;1.75;2.92	5.16	5.16	0.70880	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.093732	0.85682	D	0.000000	D	0.92374	0.7580	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.988	D;D;D;D;D;D;D;D;D;D	0.97110	0.991;0.991;1.0;0.998;0.996;0.996;0.999;0.996;1.0;0.925	D	0.93016	0.6436	10	0.87932	D	0	.	19.0817	0.93185	0.0:0.0:1.0:0.0	.	113;78;79;113;302;113;113;79;79;130	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	R	130;79;78;113;113;113;113;302;23	ENSP00000343065:G130R;ENSP00000378941:G79R;ENSP00000436273:G78R;ENSP00000436291:G113R;ENSP00000395684:G113R;ENSP00000391021:G113R;ENSP00000320340:G113R;ENSP00000412178:G302R;ENSP00000435763:G23R	ENSP00000320340:G113R	G	+	1	0	DGKZ	46345844	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	9.713000	0.98740	2.588000	0.87417	0.555000	0.69702	GGG		0.637	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		A	46389268	G	A	46389268	3	1	443	1	0	0	0	0	1	0	0	0	4476	1348	47	2	1358	2	DGKZ	11	46389268	Missense_Mutation	SNP	G	TCGA-BP-5195-01A-02D-1429-08	30255870	46389268	88617248	29	24219											
OR4A15	81328	broad.mit.edu;hgsc.bcm.edu	37	11	55135733	55135733	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:55135733G>C	ENST00000314706.3	+	1	374	c.374G>C	c.(373-375)tGt>tCt	p.C125S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C125S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTTCAGGGTTGTATGGCTCAA	0.398																																																1	Substitution - Missense(1)	kidney(1)											160	158	159					11																	55135733		2201	4294	6495	SO:0001583	missense	81328			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.374G>C	11.37:g.55135733G>C	ENSP00000325065:p.Cys125Ser		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.097926	0.37048	.	.	ENSG00000181958	ENST00000314706	T	0.00540	6.7	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.04634	0.0126	H	0.98786	4.33	0.45777	D	0.998664	D	0.76494	0.999	D	0.74674	0.984	T	0.01516	-1.1335	10	0.87932	D	0	.	12.5491	0.56216	0.0:0.0:1.0:0.0	.	125	Q8NGL6	O4A15_HUMAN	S	125	ENSP00000325065:C125S	ENSP00000325065:C125S	C	+	2	0	OR4A15	54892309	1.000000	0.71417	0.011000	0.14972	0.088000	0.18126	4.337000	0.59310	1.785000	0.52413	0.492000	0.49549	TGT		0.398	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		C	55135733	G	C	55135733	3	2	443	1	0	0	0	0	1	0	0	0	11042	1377	48	4	376	4	OR4A15	11	55135733	Missense_Mutation	SNP	G	TCGA-BP-5195-01A-02D-1429-08	8746465	55135733	79870783	30	24220											
FAT3	120114	broad.mit.edu;ucsc.edu	37	11	92532099	92532099	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:92532099G>A	ENST00000298047.6	+	9	5937	c.5920G>A	c.(5920-5922)Gaa>Aaa	p.E1974K	FAT3_ENST00000409404.2_Missense_Mutation_p.E1974K|FAT3_ENST00000525166.1_Missense_Mutation_p.E1824K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1974	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1974K(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATGGTTAAAGAAGCCATGGA	0.418										TCGA Ovarian(4;0.039)																																						2	Substitution - Missense(2)	kidney(2)											149	145	146					11																	92532099		1942	4129	6071	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5920G>A	11.37:g.92532099G>A	ENSP00000298047:p.Glu1974Lys		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	15.09	2.730672	0.48939	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01854	4.6;4.6;4.6	6.02	6.02	0.97574	.	.	.	.	.	T	0.04407	0.0121	L	0.55103	1.725	0.80722	D	1	B	0.29612	0.251	B	0.26517	0.07	T	0.50206	-0.8855	9	0.36615	T	0.2	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1974	Q8TDW7-3	.	K	1974;1974;1824	ENSP00000298047:E1974K;ENSP00000387040:E1974K;ENSP00000432586:E1824K	ENSP00000298047:E1974K	E	+	1	0	FAT3	92171747	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.930000	0.87610	2.865000	0.98341	0.655000	0.94253	GAA		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92532099	G	A	92532099	3	1	443	1	0	0	0	0	1	0	0	0	5693	943	33	2	5954	2	FAT3	11	92532099	Missense_Mutation	SNP	G	TCGA-BP-5195-01A-02D-1429-08	37396366	92532099	42474417	31	24221											
KBTBD3	143879	hgsc.bcm.edu;ucsc.edu	37	11	105924485	105924486	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:105924485_105924486delTA	ENST00000526793.1	-	3	1089_1090	c.930_931delTA	c.(928-933)tatacafs	p.T311fs	KBTBD3_ENST00000534815.1_Frame_Shift_Del_p.T232fs|KBTBD3_ENST00000531837.1_Frame_Shift_Del_p.T311fs	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	307										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TAGCAAAATGTATATTGATTTT	0.386																																																0																																										SO:0001589	frameshift_variant	143879			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.930_931delTA	11.37:g.105924487_105924488delTA	ENSP00000436262:p.Thr311fs		Q6N066|Q86X38|Q96NK5	Frame_Shift_Del	DEL	ENST00000526793.1	37	CCDS8334.1																																																																																				0.386	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		-	105924486	TA	-	105924485	7	5	443	1	0	1	0	1	0	0	0	0	7996	1638	57	0	911	0	KBTBD3	11	105924485	Frame_Shift_Del	DEL	TA	TCGA-BP-5195-01A-02D-1429-08	13392386	105924485	29082031	32	24222											
HSPA8	3312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	122929405	122929405	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr11:122929405A>G	ENST00000532636.1	-	7	1576	c.1457T>C	c.(1456-1458)cTc>cCc	p.L486P	HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000534624.1_Missense_Mutation_p.L486P|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.L467P|HSPA8_ENST00000534319.1_Missense_Mutation_p.L250P|SNORD14D_ENST00000384390.1_RNA|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.L486P|HSPA8_ENST00000533540.1_Missense_Mutation_p.L340P|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	486					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.L486P(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGAGACATTGAGTATACCATT	0.458																																					Colon(21;486 594 5900 6733 14272)											1	Substitution - Missense(1)	kidney(1)											144	137	140					11																	122929405		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1457T>C	11.37:g.122929405A>G	ENSP00000437125:p.Leu486Pro		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.776805	0.70107	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	4.45	4.45	0.53987	.	0.078478	0.49305	D	0.000150	T	0.61961	0.2389	H	0.99977	5.17	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.82010	-0.0669	10	0.87932	D	0	-12.3584	14.0257	0.64584	1.0:0.0:0.0:0.0	.	486;486	Q53GZ6;P11142	.;HSP7C_HUMAN	P	486;340;486;486;250;467;77;38	ENSP00000437125:L486P;ENSP00000437189:L340P;ENSP00000432083:L486P;ENSP00000227378:L486P;ENSP00000433316:L250P;ENSP00000433584:L467P;ENSP00000435908:L77P;ENSP00000435019:L38P	ENSP00000227378:L486P	L	-	2	0	HSPA8	122434615	1.000000	0.71417	0.452000	0.26994	0.660000	0.38997	9.306000	0.96204	1.760000	0.52011	0.459000	0.35465	CTC		0.458	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			G	122929405	A	G	122929405	3	3	443	1	0	0	0	0	1	0	0	0	7418	304	11	3	495	3	HSPA8	11	122929405	Missense_Mutation	SNP	A	TCGA-BP-5195-01A-02D-1429-08	17004920	122929405	12077111	33	24223											
ABCC9	10060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	22069954	22069954	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr12:22069954T>C	ENST00000261201.4	-	4	489	c.490A>G	c.(490-492)Aac>Gac	p.N164D	ABCC9_ENST00000345162.2_Missense_Mutation_p.N164D|ABCC9_ENST00000261200.4_Missense_Mutation_p.N164D	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	164					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.N164D(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAACGCAGGTTTGATATGTCC	0.423																																																2	Substitution - Missense(2)	kidney(2)											201	192	195					12																	22069954		2203	4300	6503	SO:0001583	missense	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.490A>G	12.37:g.22069954T>C	ENSP00000261201:p.Asn164Asp		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	4.052	0.007341	0.07866	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.91894	-2.92;-2.93;-2.91	5.09	1.73	0.24493	.	0.420309	0.27886	N	0.017444	T	0.77824	0.4188	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.61753	-0.6998	10	0.11794	T	0.64	-1.7444	5.6339	0.17526	0.0:0.4394:0.2509:0.3097	.	164;164	O60706;O60706-2	ABCC9_HUMAN;.	D	164	ENSP00000261200:N164D;ENSP00000261201:N164D;ENSP00000261202:N164D	ENSP00000261200:N164D	N	-	1	0	ABCC9	21961221	0.044000	0.20184	0.882000	0.34594	0.560000	0.35617	0.255000	0.18333	0.056000	0.16144	-0.182000	0.12963	AAC		0.423	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		C	22069954	T	C	22069954	3	2	443	1	0	0	0	0	1	0	0	0	59	1841	64	3	4441	3	ABCC9	12	22069954	Missense_Mutation	SNP	T	TCGA-BP-5195-01A-02D-1429-08		22069954	111781941	34	24224											
RASSF9	9182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	86199447	86199447	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr12:86199447A>C	ENST00000361228.3	-	2	709	c.341T>G	c.(340-342)tTg>tGg	p.L114W		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	114	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.L114W(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTTTAACCAAAACAAATTG	0.468																																																2	Substitution - Missense(2)	kidney(2)											136	136	136					12																	86199447		1908	4135	6043	SO:0001583	missense	9182				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.341T>G	12.37:g.86199447A>C	ENSP00000354884:p.Leu114Trp		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714058	0.48622	.	.	ENSG00000198774	ENST00000361228	T	0.69926	-0.44	4.87	4.87	0.63330	Ras-association (2);	0.000000	0.64402	D	0.000011	D	0.85287	0.5662	M	0.92219	3.285	0.53005	D	0.999966	D	0.89917	1.0	D	0.77557	0.99	D	0.89180	0.3543	10	0.87932	D	0	-10.4914	14.748	0.69501	1.0:0.0:0.0:0.0	.	114	O75901	RASF9_HUMAN	W	114	ENSP00000354884:L114W	ENSP00000354884:L114W	L	-	2	0	RASSF9	84723578	1.000000	0.71417	0.998000	0.56505	0.200000	0.23975	9.213000	0.95133	1.961000	0.56991	0.496000	0.49642	TTG		0.468	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			C	86199447	A	C	86199447	3	2	443	1	0	0	0	0	1	0	0	0	13099	131	5	5	970	5	RASSF9	12	86199447	Missense_Mutation	SNP	A	TCGA-BP-5195-01A-02D-1429-08	64129493	86199447	47652448	35	24225											
SBNO1	55206	hgsc.bcm.edu;ucsc.edu	37	12	123794374	123794377	+	Frame_Shift_Del	DEL	TATT	TATT	-			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	TATT	TATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr12:123794374_123794377delTATT	ENST00000602398.1	-	26	3449_3452	c.3322_3325delAATA	c.(3322-3327)aatagafs	p.NR1108fs	SBNO1_ENST00000420886.2_Frame_Shift_Del_p.NR1108fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.NR1107fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.NR1107fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1108					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)		CCTAAAATTCTATTTAAGAATTTT	0.299																																																0																																										SO:0001589	frameshift_variant	55206			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.3322_3325delAATA	12.37:g.123794374_123794377delTATT	ENSP00000473665:p.Asn1108fs		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Del	DEL	ENST00000602398.1	37	CCDS53844.1																																																																																				0.299	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		-	123794377	TATT	-	123794374	7	5	443	1	0	1	0	1	0	0	0	0	13868	1530	53	0	884	0	SBNO1	12	123794374	Frame_Shift_Del	DEL	TATT	TCGA-BP-5195-01A-02D-1429-08	37594927	123794374	10057521	36	24226											
ZMYM2	7750	broad.mit.edu;ucsc.edu	37	13	20601355	20601355	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr13:20601355T>G	ENST00000382874.2	+	10	1938	c.1748T>G	c.(1747-1749)aTt>aGt	p.I583S	ZMYM2_ENST00000382871.2_Missense_Mutation_p.I583S|ZMYM2_ENST00000382883.3_Missense_Mutation_p.I65S|ZMYM2_ENST00000382869.3_Missense_Mutation_p.I583S	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.I583S(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTGGGAATTATTTGCCATTTT	0.318																																																2	Substitution - Missense(2)	kidney(2)											77	70	72					13																	20601355		1815	4063	5878	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1748T>G	13.37:g.20601355T>G	ENSP00000372327:p.Ile583Ser		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	T	6.075	0.382171	0.11524	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883	T;T;T;T	0.41400	2.36;2.36;2.36;1.0	5.45	4.23	0.50019	Zinc finger, MYM-type (1);	0.155567	0.56097	D	0.000027	T	0.20820	0.0501	N	0.08118	0	0.44073	D	0.996827	B	0.12630	0.006	B	0.16289	0.015	T	0.05257	-1.0896	10	0.09084	T	0.74	2.3519	11.6208	0.51117	0.1335:0.0:0.0:0.8665	.	583	Q9UBW7	ZMYM2_HUMAN	S	583;583;583;583;65	ENSP00000372322:I583S;ENSP00000372327:I583S;ENSP00000372324:I583S;ENSP00000372336:I65S	ENSP00000372322:I583S	I	+	2	0	ZMYM2	19499355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.200000	0.58433	0.852000	0.35287	0.528000	0.53228	ATT		0.318	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		G	20601355	T	G	20601355	3	3	443	1	0	0	0	0	1	0	0	0	17705	1493	52	5	1774	5	ZMYM2	13	20601355	Missense_Mutation	SNP	T	TCGA-BP-5195-01A-02D-1429-08		20601355	94568523	37	24227											
FAM123A	219287	broad.mit.edu;hgsc.bcm.edu	37	13	25745612	25745612	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr13:25745612C>T	ENST00000515384.1	-	1	813	c.146G>A	c.(145-147)tGt>tAt	p.C49Y	AMER2_ENST00000357816.2_Missense_Mutation_p.C49Y|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Missense_Mutation_p.C49Y			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	49	Gly-rich.				ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.C49Y(2)									TTCGGCGGCACAGTCACAATG	0.657																																																2	Substitution - Missense(2)	kidney(2)											24	27	26					13																	25745612		2181	4274	6455	SO:0001583	missense	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.146G>A	13.37:g.25745612C>T	ENSP00000426528:p.Cys49Tyr		Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244344	0.39697	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.25085	1.85;1.85;1.82	3.42	3.42	0.39159	.	0.072856	0.53938	D	0.000049	T	0.29749	0.0743	L	0.48642	1.525	0.37833	D	0.928803	P;P	0.52316	0.952;0.924	P;P	0.47941	0.496;0.562	T	0.30851	-0.9964	10	0.48119	T	0.1	-5.3355	14.3394	0.66614	0.0:1.0:0.0:0.0	.	49;49	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	Y	49	ENSP00000350469:C49Y;ENSP00000371277:C49Y;ENSP00000426528:C49Y	ENSP00000350469:C49Y	C	-	2	0	FAM123A	24643612	0.963000	0.33076	0.295000	0.24960	0.492000	0.33523	2.768000	0.47645	1.890000	0.54733	0.462000	0.41574	TGT		0.657	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		T	25745612	C	T	25745612	3	4	443	1	0	0	0	0	1	0	0	0	5424	478	17	2	1873	2	FAM123A	13	25745612	Missense_Mutation	SNP	C	TCGA-BP-5195-01A-02D-1429-08	5144257	25745612	89424266	38	24228											
ATP8A2	51761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26152975	26152975	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr13:26152975T>C	ENST00000381655.2	+	21	1947	c.1805T>C	c.(1804-1806)cTt>cCt	p.L602P	ATP8A2_ENST00000255283.8_Missense_Mutation_p.L562P|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	562					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L602P(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTGAGAGACTTTCAAAAGAC	0.383																																																1	Substitution - Missense(1)	kidney(1)											124	115	118					13																	26152975		1845	4095	5940	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1805T>C	13.37:g.26152975T>C	ENSP00000371070:p.Leu602Pro		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307890	0.81247	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.70749	-0.51;-0.51	5.61	5.61	0.85477	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	H	0.98951	4.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.995	D	0.94450	0.7666	10	0.87932	D	0	.	16.1054	0.81216	0.0:0.0:0.0:1.0	.	562;382;562	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	P	602;562;382	ENSP00000371070:L602P;ENSP00000255283:L562P	ENSP00000255283:L562P	L	+	2	0	ATP8A2	25050975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.603000	0.82811	2.266000	0.75297	0.533000	0.62120	CTT		0.383	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		C	26152975	T	C	26152975	3	2	443	1	0	0	0	0	1	0	0	0	1193	1609	56	3	1887	3	ATP8A2	13	26152975	Missense_Mutation	SNP	T	TCGA-BP-5195-01A-02D-1429-08	407363	26152975	89016903	39	24229											
ABCC4	10257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95838971	95838971	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr13:95838971G>A	ENST00000376887.4	-	11	1643	c.1529C>T	c.(1528-1530)gCt>gTt	p.A510V	ABCC4_ENST00000431522.1_Missense_Mutation_p.A510V|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.A435V|ABCC4_ENST00000412704.1_Missense_Mutation_p.A510V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	510	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A510V(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CAGAGCACAAGCCTTTATGAC	0.373																																																2	Substitution - Missense(2)	kidney(2)											138	128	131					13																	95838971		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1529C>T	13.37:g.95838971G>A	ENSP00000366084:p.Ala510Val		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187834	0.38609	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.81	4.96	0.65561	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.116173	0.64402	D	0.000006	D	0.88058	0.6335	L	0.31371	0.925	0.50632	D	0.999887	B;B;B;B;B	0.23854	0.078;0.01;0.092;0.01;0.019	B;B;B;B;B	0.32624	0.074;0.044;0.149;0.044;0.075	T	0.81172	-0.1054	10	0.15952	T	0.53	.	9.8792	0.41222	0.2001:0.0:0.7999:0.0	.	435;510;510;510;510	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	V	510;510;435;510	ENSP00000388657:A510V;ENSP00000366084:A510V;ENSP00000442024:A435V;ENSP00000398562:A510V	ENSP00000366084:A510V	A	-	2	0	ABCC4	94636972	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.122000	0.57910	2.763000	0.94921	0.650000	0.86243	GCT		0.373	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		A	95838971	G	A	95838971	3	1	443	1	0	0	0	0	1	0	0	0	55	971	34	2	2581	2	ABCC4	13	95838971	Missense_Mutation	SNP	G	TCGA-BP-5195-01A-02D-1429-08	69685996	95838971	19330907	40	24230											
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24878974	24878974	+	Silent	SNP	A	A	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr14:24878974A>T	ENST00000382554.3	+	4	2292	c.1974A>T	c.(1972-1974)gcA>gcT	p.A658A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	658					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.A658A(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCACCTGCAGCTTCCAAAG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											38	41	40					14																	24878974		1925	4135	6060	SO:0001819	synonymous_variant	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1974A>T	14.37:g.24878974A>T			Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	CCDS45090.1																																																																																				0.572	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			T	24878974	A	T	24878974	2	4	443	1	0	0	0	0	0	0	0	1	10798	175	7	5		5	NYNRIN	14	24878974	Silent	SNP	A	TCGA-BP-5195-01A-02D-1429-08		24878974	82470566	41	24231											
SERPINA9	327657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94936172	94936172	+	Silent	SNP	T	T	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr14:94936172T>C	ENST00000380365.3	-	2	84	c.6A>G	c.(4-6)gcA>gcG	p.A2A	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000298845.7_Silent_p.A20A|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000337425.5_Silent_p.A20A|SERPINA9_ENST00000539349.1_5'UTR			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	2					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A20A(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AAAGGTAAGATGCCATTTTGG	0.517																																																2	Substitution - coding silent(2)	kidney(2)											79	77	77					14																	94936172		1968	4161	6129	SO:0001819	synonymous_variant	327657			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.6A>G	14.37:g.94936172T>C			B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37																																																																																					0.517	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		C	94936172	T	C	94936172	2	2	443	1	0	0	0	0	0	0	0	1	14101	1451	51	3		3	SERPINA9	14	94936172	Silent	SNP	T	TCGA-BP-5195-01A-02D-1429-08	70057198	94936172	12413368	42	24232											
GANC	2595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42632072	42632072	+	Silent	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr15:42632072G>A	ENST00000318010.8	+	17	2289	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	683					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.L683L(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GGTATTCTCTGTTCTACCATG	0.517																																																1	Substitution - coding silent(1)	kidney(1)											74	57	63					15																	42632072		2203	4299	6502	SO:0001819	synonymous_variant	2595			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2049G>A	15.37:g.42632072G>A			Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	CCDS10084.1																																																																																				0.517	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		A	42632072	G	A	42632072	2	1	443	1	0	0	0	0	0	0	0	1	6236	1364	48	2		2	GANC	15	42632072	Silent	SNP	G	TCGA-BP-5195-01A-02D-1429-08		42632072	59899320	43	24233											
PRSS21	10942	broad.mit.edu;ucsc.edu	37	16	2871075	2871075	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr16:2871075G>T	ENST00000005995.3	+	5	712	c.670G>T	c.(670-672)Gct>Tct	p.A224S	PRSS21_ENST00000455114.1_Missense_Mutation_p.A222S|PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000575739.1_Intron			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	224	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A224S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CATGGTTTGTGCTGGCAATGC	0.532																																																1	Substitution - Missense(1)	kidney(1)											310	278	289					16																	2871075		2198	4300	6498	SO:0001583	missense	10942			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.670G>T	16.37:g.2871075G>T	ENSP00000005995:p.Ala224Ser		Q9NS34|Q9P2V6	Missense_Mutation	SNP	ENST00000005995.3	37	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	17.84	3.486881	0.63962	.	.	ENSG00000007038	ENST00000455114;ENST00000005995	D;D	0.85773	-2.03;-2.03	4.26	3.3	0.37823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92221	0.7533	M	0.88241	2.94	0.40380	D	0.979432	D;D	0.76494	0.999;0.998	D;D	0.79784	0.992;0.993	D	0.92596	0.6087	9	0.87932	D	0	.	10.162	0.42858	0.0997:0.0:0.9003:0.0	.	224;222	Q9Y6M0;Q9Y6M0-2	TEST_HUMAN;.	S	222;224	ENSP00000400632:A222S;ENSP00000005995:A224S	ENSP00000005995:A224S	A	+	1	0	PRSS21	2811076	0.995000	0.38212	0.006000	0.13384	0.080000	0.17528	3.107000	0.50329	1.006000	0.39211	0.567000	0.79289	GCT		0.532	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		T	2871075	G	T	2871075	3	4	443	1	0	0	0	0	1	0	0	0	12623	1319	46	4	688	4	PRSS21	16	2871075	Missense_Mutation	SNP	G	TCGA-BP-5195-01A-02D-1429-08		2871075	87483678	44	24234											
KIAA0430	9665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15719413	15719413	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr16:15719413C>A	ENST00000396368.3	-	8	1975	c.1769G>T	c.(1768-1770)tGt>tTt	p.C590F	KIAA0430_ENST00000548025.1_Missense_Mutation_p.C587F|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000551742.1_Missense_Mutation_p.C589F|KIAA0430_ENST00000602337.1_Missense_Mutation_p.C587F|KIAA0430_ENST00000344181.3_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	590					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.C590F(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTTGTTTCACAGAGTTCTCT	0.373																																																1	Substitution - Missense(1)	kidney(1)											122	118	119					16																	15719413		1838	4098	5936	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1769G>T	16.37:g.15719413C>A	ENSP00000379654:p.Cys590Phe		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	2.883	-0.231443	0.05983	.	.	ENSG00000166783	ENST00000396368;ENST00000321370;ENST00000548025;ENST00000551742	T;T;T	0.39997	1.05;1.05;1.05	5.29	2.17	0.27698	.	0.361913	0.31636	N	0.007313	T	0.11281	0.0275	N	0.02011	-0.69	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.09335	-1.0679	10	0.08179	T	0.78	.	0.6081	0.00756	0.1831:0.3599:0.1657:0.2913	.	588;587;586	Q9Y4F3-5;F8VV09;Q9Y4F3-4	.;.;.	F	590;589;587;589	ENSP00000379654:C590F;ENSP00000449376:C587F;ENSP00000450309:C589F	ENSP00000315718:C589F	C	-	2	0	KIAA0430	15626914	0.832000	0.29368	1.000000	0.80357	0.998000	0.95712	-0.147000	0.10234	0.681000	0.31386	0.591000	0.81541	TGT		0.373	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		A	15719413	C	A	15719413	3	1	443	1	0	0	0	0	1	0	0	0	8179	478	17	4	3542	4	KIAA0430	16	15719413	Missense_Mutation	SNP	C	TCGA-BP-5195-01A-02D-1429-08	12848338	15719413	74635340	45	24235											
ITGAL	3683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30495241	30495241	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr16:30495241C>G	ENST00000356798.6	+	8	996	c.816C>G	c.(814-816)aaC>aaG	p.N272K	RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000454514.2_3'UTR|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.N189K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	272	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.N272K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ACAGTGGCAACATCGATGCGG	0.587																																					NSCLC(110;1462 1641 3311 33990 49495)											1	Substitution - Missense(1)	kidney(1)											186	162	170					16																	30495241		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.816C>G	16.37:g.30495241C>G	ENSP00000349252:p.Asn272Lys		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828234	0.32329	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.82984	-1.67;-1.67	5.97	5.02	0.67125	von Willebrand factor, type A (3);	0.364810	0.23402	N	0.048576	D	0.82820	0.5120	L	0.46885	1.475	0.29230	N	0.873345	P;B	0.45531	0.86;0.356	P;B	0.49421	0.61;0.158	T	0.79878	-0.1617	10	0.54805	T	0.06	.	12.2014	0.54328	0.0:0.9205:0.0:0.0795	.	189;272	Q96HB1;P20701	.;ITAL_HUMAN	K	272;189	ENSP00000349252:N272K;ENSP00000350886:N189K	ENSP00000349252:N272K	N	+	3	2	ITGAL	30402742	0.021000	0.18746	0.030000	0.17652	0.014000	0.08584	0.681000	0.25320	1.540000	0.49301	0.591000	0.81541	AAC		0.587	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			G	30495241	C	G	30495241	3	3	443	1	0	0	0	0	1	0	0	0	7888	477	17	4	846	4	ITGAL	16	30495241	Missense_Mutation	SNP	C	TCGA-BP-5195-01A-02D-1429-08	14775828	30495241	59859512	46	24236											
CDH8	1006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	61851421	61851421	+	Silent	SNP	C	C	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr16:61851421C>A	ENST00000577390.1	-	7	2193	c.1239G>T	c.(1237-1239)gtG>gtT	p.V413V	CDH8_ENST00000299345.6_Silent_p.V413V|CDH8_ENST00000577730.1_Silent_p.V413V|CDH8_ENST00000584337.1_Silent_p.V413V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.V413V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CACGAGCAGTCACTTGCCCAA	0.428																																																1	Substitution - coding silent(1)	kidney(1)											87	80	83					16																	61851421		2203	4300	6503	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1239G>T	16.37:g.61851421C>A			B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		A	61851421	C	A	61851421	2	1	443	1	0	0	0	0	0	0	0	1	3118	813	29	4		4	CDH8	16	61851421	Silent	SNP	C	TCGA-BP-5195-01A-02D-1429-08	31356180	61851421	28503332	47	24237											
GOSR1	9527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	28849291	28849291	+	Silent	SNP	C	C	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr17:28849291C>T	ENST00000225724.5	+	9	720	c.648C>T	c.(646-648)aaC>aaT	p.N216N	GOSR1_ENST00000467337.2_Silent_p.N151N|GOSR1_ENST00000451249.2_Silent_p.N214N|GOSR1_ENST00000581721.1_Silent_p.N202N	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	216					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.N216N(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CTGCTGTAAACAGCCTGATCC	0.468																																																1	Substitution - coding silent(1)	kidney(1)											275	301	292					17																	28849291		2203	4300	6503	SO:0001819	synonymous_variant	9527			AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"golgi integral membrane protein 2"	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.648C>T	17.37:g.28849291C>T			J3KST5|O75392	Silent	SNP	ENST00000225724.5	37	CCDS11258.1																																																																																				0.468	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			T	28849291	C	T	28849291	2	4	443	1	0	0	0	0	0	0	0	1	6579	477	17	2		2	GOSR1	17	28849291	Silent	SNP	C	TCGA-BP-5195-01A-02D-1429-08		28849291	52345919	48	24238											
TAF15	8148	hgsc.bcm.edu	37	17	34171624	34171650	+	In_Frame_Del	DEL	AGAAGTGGGGGCGGCTATGGTGGAGAC	AGAAGTGGGGGCGGCTATGGTGGAGAC	-	rs150034643|rs145295353	byFrequency	TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	AGAAGTGGGGGCGGCTATGGTGGAGAC	AGAAGTGGGGGCGGCTATGGTGGAGAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr17:34171624_34171650delAGAAGTGGGGGCGGCTATGGTGGAGAC	ENST00000588240.1	+	15	1436_1462	c.1321_1347delAGAAGTGGGGGCGGCTATGGTGGAGAC	c.(1321-1347)agaagtgggggcggctatggtggagacdel	p.RSGGGYGGD450del	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_In_Frame_Del_p.RSGGGYGGD447del	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		cagcggagatagaagtgggggcggctatggtggagacagaagtgggg	0.634			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																		Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	0																																										SO:0001651	inframe_deletion	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1321_1347delAGAAGTGGGGGCGGCTATGGTGGAGAC	17.37:g.34171624_34171650delAGAAGTGGGGGCGGCTATGGTGGAGAC	ENSP00000466950:p.Arg450_Asp458del		D3DPM5|Q15775|Q5T077	In_Frame_Del	DEL	ENST00000588240.1	37	CCDS32623.1																																																																																				0.634	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		-	34171650	AGAAGTGGGGGCGGCTATGGTGGAGAC	-	34171624	7	5	443	1	0	1	0	1	0	0	0	0	15523	412	15	0	1379	0	TAF15	17	34171624	In_Frame_Del	DEL	AGAAGTGGGGGCGGCTATGGTGGAGAC	TCGA-BP-5195-01A-02D-1429-08	5322333	34171624	47023586	49	24239											
AOC2	314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40997546	40997546	+	Silent	SNP	T	T	C	rs371763221		TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr17:40997546T>C	ENST00000253799.3	+	1	930	c.903T>C	c.(901-903)tcT>tcC	p.S301S	AOC2_ENST00000452774.2_Silent_p.S301S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	301					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.S301S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTCGGAACTCTCCAGGTCCTC	0.557																																																1	Substitution - coding silent(1)	kidney(1)											88	90	89					17																	40997546		2203	4300	6503	SO:0001819	synonymous_variant	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.903T>C	17.37:g.40997546T>C			A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	ENST00000253799.3	37	CCDS11443.1																																																																																				0.557	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		C	40997546	T	C	40997546	2	2	443	1	0	0	0	0	0	0	0	1	727	1538	54	3		3	AOC2	17	40997546	Silent	SNP	T	TCGA-BP-5195-01A-02D-1429-08	6825922	40997546	40197664	50	24240											
MEP1B	4225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29775406	29775406	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr18:29775406A>G	ENST00000269202.6	+	5	255	c.208A>G	c.(208-210)Aga>Gga	p.R70G	MEP1B_ENST00000581447.1_Missense_Mutation_p.R70G	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	70	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R70G(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAAAAGTATAGATGGCCTCA	0.338																																																1	Substitution - Missense(1)	kidney(1)											140	129	133					18																	29775406		1834	4083	5917	SO:0001583	missense	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.208A>G	18.37:g.29775406A>G	ENSP00000269202:p.Arg70Gly		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706422	0.68615	.	.	ENSG00000141434	ENST00000269202	T	0.65732	-0.17	5.43	5.43	0.79202	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.044496	0.85682	D	0.000000	D	0.84556	0.5498	H	0.96518	3.835	0.47123	D	0.999327	D	0.89917	1.0	D	0.97110	1.0	D	0.88681	0.3202	10	0.87932	D	0	-25.3307	11.8272	0.52273	0.8112:0.1888:0.0:0.0	.	70	Q16820	MEP1B_HUMAN	G	70	ENSP00000269202:R70G	ENSP00000269202:R70G	R	+	1	2	MEP1B	28029404	0.965000	0.33210	0.902000	0.35471	0.916000	0.54674	2.333000	0.43912	2.054000	0.61138	0.482000	0.46254	AGA		0.338	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		G	29775406	A	G	29775406	3	3	443	1	0	0	0	0	1	0	0	0	9478	412	15	3	226	3	MEP1B	18	29775406	Missense_Mutation	SNP	A	TCGA-BP-5195-01A-02D-1429-08		29775406	48301842	51	24241											
BCL2	596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	60985489	60985489	+	Silent	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr18:60985489G>A	ENST00000398117.1	-	1	1872	c.411C>T	c.(409-411)ctC>ctT	p.L137L	BCL2_ENST00000589955.1_Silent_p.L137L|BCL2_ENST00000333681.4_Silent_p.L137L|BCL2_ENST00000444484.1_Silent_p.L137L	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	137					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)	p.L137L(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CGTCCCTGAAGAGCTCCTCCA	0.657			T	IGH@	"NHL, CLL"																																		Dom	yes		18	18q21.3	596	B-cell CLL/lymphoma 2		L	2	Substitution - coding silent(2)	kidney(2)											118	135	129					18																	60985489		2203	4300	6503	SO:0001819	synonymous_variant	596			M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	990	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 50"	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.411C>T	18.37:g.60985489G>A			C9JHD5|P10416|Q13842|Q16197	Silent	SNP	ENST00000398117.1	37	CCDS11981.1																																																																																				0.657	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657		A	60985489	G	A	60985489	2	1	443	1	0	0	0	0	0	0	0	1	1365	929	33	2		2	BCL2	18	60985489	Silent	SNP	G	TCGA-BP-5195-01A-02D-1429-08	31210083	60985489	17091759	52	24242											
KLHL26	55295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18778755	18778755	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr19:18778755C>G	ENST00000300976.4	+	3	638	c.548C>G	c.(547-549)tCg>tGg	p.S183W	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	183	BACK.							p.S183W(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGCGAGAGTCGGTGGATGCC	0.632																																																1	Substitution - Missense(1)	kidney(1)											76	63	67					19																	18778755		2203	4300	6503	SO:0001583	missense	55295				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.548C>G	19.37:g.18778755C>G	ENSP00000300976:p.Ser183Trp		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565430	0.45694	.	.	ENSG00000167487	ENST00000300976	T	0.70045	-0.45	5.04	5.04	0.67666	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.78393	-0.2221	9	.	.	.	.	17.3648	0.87360	0.0:1.0:0.0:0.0	.	183	Q53HC5	KLH26_HUMAN	W	183	ENSP00000300976:S183W	.	S	+	2	0	KLHL26	18639755	1.000000	0.71417	0.727000	0.30756	0.330000	0.28571	4.659000	0.61504	2.341000	0.79615	0.591000	0.81541	TCG		0.632	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		G	18778755	C	G	18778755	3	3	443	1	0	0	0	0	1	0	0	0	8383	893	31	4	558	4	KLHL26	19	18778755	Missense_Mutation	SNP	C	TCGA-BP-5195-01A-02D-1429-08		18778755	40350228	53	24243											
PSG3	5671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	43243171	43243171	+	Silent	SNP	A	A	T			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr19:43243171A>T	ENST00000327495.5	-	2	319	c.135T>A	c.(133-135)gtT>gtA	p.V45V	PSG3_ENST00000595140.1_Silent_p.V45V|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	45	Ig-like V-type.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.V45V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCCCCTTGGAAACTTTGGTTG	0.463																																																1	Substitution - coding silent(1)	kidney(1)											193	202	199					19																	43243171		2203	4300	6503	SO:0001819	synonymous_variant	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.135T>A	19.37:g.43243171A>T			Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	CCDS12611.1																																																																																				0.463	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		T	43243171	A	T	43243171	2	4	443	1	0	0	0	0	0	0	0	1	12661	1	1	5		5	PSG3	19	43243171	Silent	SNP	A	TCGA-BP-5195-01A-02D-1429-08	24464416	43243171	15885812	54	24244											
RSPH6A	81492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46317992	46317992	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr19:46317992T>G	ENST00000221538.3	-	1	585	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	SYMPK_ENST00000598155.1_5'Flank|RSPH6A_ENST00000597055.1_Missense_Mutation_p.Q148P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	148						intracellular (GO:0005622)		p.Q148P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GAGGTTGAACTGGCCCAAGGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											49	52	51					19																	46317992		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.443A>C	19.37:g.46317992T>G	ENSP00000221538:p.Gln148Pro		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	T	9.152	1.016580	0.19355	.	.	ENSG00000104941	ENST00000221538	T	0.22743	1.94	4.15	-0.586	0.11694	.	1.564430	0.04208	N	0.331202	T	0.12050	0.0293	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24297	-1.0164	10	0.22706	T	0.39	1.9675	1.5959	0.02664	0.1701:0.1003:0.3516:0.3781	.	148	Q9H0K4	RSH6A_HUMAN	P	148	ENSP00000221538:Q148P	ENSP00000221538:Q148P	Q	-	2	0	RSPH6A	51009832	0.109000	0.22037	0.006000	0.13384	0.001000	0.01503	0.280000	0.18790	-0.088000	0.12506	-1.035000	0.02400	CAG		0.607	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			G	46317992	T	G	46317992	3	3	443	1	0	0	0	0	1	0	0	0	13713	1580	55	5	1734	5	RSPH6A	19	46317992	Missense_Mutation	SNP	T	TCGA-BP-5195-01A-02D-1429-08	3074821	46317992	12810991	55	24245											
LRRC3	81543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	45876771	45876771	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr21:45876771G>A	ENST00000291592.4	+	2	561	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	82						integral component of membrane (GO:0016021)		p.G82R(1)		endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CCTCCCGGACGGGGCCTTCCA	0.677																																																1	Substitution - Missense(1)	kidney(1)											38	42	40					21																	45876771		2203	4300	6503	SO:0001583	missense	81543			AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 102"	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.244G>A	21.37:g.45876771G>A	ENSP00000291592:p.Gly82Arg		Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	G	9.541	1.113500	0.20795	.	.	ENSG00000160233	ENST00000291592;ENST00000471776	T	0.58060	0.36	4.64	2.69	0.31865	.	0.690968	0.14109	N	0.340806	T	0.30417	0.0764	L	0.31526	0.94	0.09310	N	1	P	0.37141	0.584	B	0.28638	0.092	T	0.17471	-1.0368	10	0.49607	T	0.09	-20.6374	2.7561	0.05293	0.2738:0.267:0.4592:0.0	.	82	Q9BY71	LRRC3_HUMAN	R	82	ENSP00000291592:G82R	ENSP00000291592:G82R	G	+	1	0	LRRC3	44701199	0.044000	0.20184	0.194000	0.23346	0.330000	0.28571	0.519000	0.22862	2.294000	0.77228	0.561000	0.74099	GGG		0.677	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			A	45876771	G	A	45876771	3	1	443	1	0	0	0	0	1	0	0	0	8986	1116	39	1	246	1	LRRC3	21	45876771	Missense_Mutation	SNP	G	TCGA-BP-5195-01A-02D-1429-08		45876771	2253124	56	24246											
MN1	4330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	28192870	28192870	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr22:28192870G>A	ENST00000302326.4	-	1	4616	c.3662C>T	c.(3661-3663)gCa>gTa	p.A1221V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1221					intramembranous ossification (GO:0001957)			p.A1221V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCTGTGCTCTGCCATCAGCGA	0.667			T	ETV6	"AML, meningioma"																																		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	1	Substitution - Missense(1)	kidney(1)											62	65	64					22																	28192870		2167	4266	6433	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3662C>T	22.37:g.28192870G>A	ENSP00000304956:p.Ala1221Val		A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784049	0.90282	.	.	ENSG00000169184	ENST00000302326	T	0.58797	0.31	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	L	0.27053	0.805	0.53005	D	0.999963	D	0.65815	0.995	P	0.61800	0.894	T	0.67872	-0.5558	10	0.66056	D	0.02	-8.2322	17.4561	0.87607	0.0:0.0:1.0:0.0	.	1221	Q10571	MN1_HUMAN	V	1221	ENSP00000304956:A1221V	ENSP00000304956:A1221V	A	-	2	0	MN1	26522870	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.173000	0.94815	2.349000	0.79799	0.456000	0.33151	GCA		0.667	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		A	28192870	G	A	28192870	3	1	443	1	0	0	0	0	1	0	0	0	9675	1319	46	2	308	2	MN1	22	28192870	Missense_Mutation	SNP	G	TCGA-BP-5195-01A-02D-1429-08		28192870	23111696	57	24247											
MOV10L1	54456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50538014	50538014	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chr22:50538014T>C	ENST00000262794.5	+	3	508	c.425T>C	c.(424-426)cTg>cCg	p.L142P	MOV10L1_ENST00000540615.1_Missense_Mutation_p.L122P|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.L142P|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.L142P	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	142					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.L142P(1)|p.L122P(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TACTTCTCTCTGGAGAGTGTG	0.522																																																2	Substitution - Missense(2)	kidney(2)											121	100	107					22																	50538014		2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.425T>C	22.37:g.50538014T>C	ENSP00000262794:p.Leu142Pro		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	T	5.339	0.247791	0.10130	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000428564	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.76	4.73	0.59995	.	0.420838	0.24158	N	0.041006	T	0.48554	0.1506	M	0.78637	2.42	0.20563	N	0.999887	B;B;B;B	0.20550	0.016;0.025;0.046;0.009	B;B;B;B	0.20955	0.032;0.02;0.014;0.014	T	0.48670	-0.9015	10	0.54805	T	0.06	-10.6842	9.4579	0.38767	0.0:0.0816:0.0:0.9184	.	122;122;142;142	F5H403;E7EPK8;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	P	142;142;142;122;122	ENSP00000438978:L142P;ENSP00000262794:L142P;ENSP00000379199:L142P;ENSP00000438542:L122P	ENSP00000262794:L142P	L	+	2	0	MOV10L1	48880141	0.148000	0.22702	0.870000	0.34147	0.084000	0.17831	1.414000	0.34736	1.010000	0.39314	0.533000	0.62120	CTG		0.522	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		C	50538014	T	C	50538014	3	2	443	1	0	0	0	0	1	0	0	0	9721	1580	55	3	476	3	MOV10L1	22	50538014	Missense_Mutation	SNP	T	TCGA-BP-5195-01A-02D-1429-08	22345144	50538014	766552	58	24248											
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-BP-5195-01A-02D-1429-08	TCGA-BP-5195-11A-01D-1429-08	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2ab2f01-3744-434a-b5b6-0f22599c9a17	0c1904c4-02ca-4be4-8983-4dd9f3b71eaa	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)											5	Unknown(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)								1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC			Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37	CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	443	1	0	1	0	1	0	0	0	0	10729	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-BP-5195-01A-02D-1429-08		51239296	104031264	59	24249											
PRAMEF2	65122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12919829	12919829	+	Missense_Mutation	SNP	C	C	T	rs374389020	byFrequency	TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:12919829C>T	ENST00000240189.2	+	3	656	c.569C>T	c.(568-570)aCg>aTg	p.T190M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	190					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)			p.T190M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTATCTAACGCCAATTAAA	0.398													.|||	3	0.000599042	0.0	0.0	5008	,	,		25327	0.0		0.0	False		,,,				2504	0.0031															1	Substitution - Missense(1)	kidney(1)						C	MET/THR	0,4404		0,0,2202	162	177	172		569	-0.9	0	1		172	1,8587	1.2+/-3.3	0,1,4293	no	missense	PRAMEF2	NM_023014.1	81	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	190/475	12919829	1,12991	2202	4294	6496	SO:0001583	missense	65122				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.569C>T	1.37:g.12919829C>T	ENSP00000240189:p.Thr190Met			Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.909161	0.00056	0.0	1.16E-4	ENSG00000120952	ENST00000240189	T	0.13901	2.55	0.842	-0.902	0.10537	.	1.724660	0.02998	N	0.147771	T	0.01940	0.0061	N	0.00289	-1.7	0.09310	N	1	P	0.36837	0.571	B	0.21360	0.034	T	0.33137	-0.9880	10	0.02654	T	1	.	3.084	0.06272	0.0:0.3627:0.0:0.6373	.	190	O60811	PRAM2_HUMAN	M	190	ENSP00000240189:T190M	ENSP00000240189:T190M	T	+	2	0	PRAMEF2	12842416	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.073000	0.14640	-0.260000	0.09418	0.194000	0.17425	ACG		0.398	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		T	12919829	C	T	12919829	3	4	444	1	0	0	0	0	1	0	0	0	12440	536	19	1	575	1	PRAMEF2	1	12919829	Missense_Mutation	SNP	C	TCGA-BP-5196-01A-01D-1429-08		12919829	236330792	1	24250											
AIM1L	55057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26664087	26664087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:26664087C>A	ENST00000308182.5	-	8	880	c.451G>T	c.(451-453)Gag>Tag	p.E151*	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000527815.1_Nonsense_Mutation_p.E322*			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	151	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)	p.E151*(1)|p.E322*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGCTGTCCTCTGGCTGCTGA	0.612																																																2	Substitution - Nonsense(2)	kidney(2)											43	45	44					1																	26664087		2203	4300	6503	SO:0001587	stop_gained	55057					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.451G>T	1.37:g.26664087C>A	ENSP00000310435:p.Glu151*		B2RNG3|Q5T137|Q5T150	Nonsense_Mutation	SNP	ENST00000308182.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	7.975570|7.975570	0.98591|0.98591	.|.	.|.	ENSG00000176092|ENSG00000176092	ENST00000527815;ENST00000308182|ENST00000429942	.|.	.|.	.|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.608859|.	0.17208|.	N|.	0.182848|.	.|T	.|0.71039	.|0.3293	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70081	.|-0.4970	.|4	0.13470|.	T|.	0.59|.	.|.	15.2913|15.2913	0.73868|0.73868	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	322;151|88	.|.	ENSP00000310435:E151X|.	E|R	-|-	1|2	0|0	AIM1L|AIM1L	26536674|26536674	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	0.807000|0.807000	0.27140|0.27140	2.472000|2.472000	0.83506|0.83506	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.612	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		A	26664087	C	A	26664087	4	1	444	1	0	0	0	0	0	1	0	0	431	922	32	4	1447	4	AIM1L	1	26664087	Nonsense_Mutation	SNP	C	TCGA-BP-5196-01A-01D-1429-08	13744258	26664087	222586534	2	24251											
CGN	57530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151496775	151496775	+	Silent	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:151496775C>T	ENST00000271636.7	+	7	1475	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	442	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.L448L(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGATGGAGCTGCAGAACAA	0.507																																																1	Substitution - coding silent(1)	kidney(1)											108	96	100					1																	151496775		2203	4300	6503	SO:0001819	synonymous_variant	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1342C>T	1.37:g.151496775C>T			A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	CCDS999.1																																																																																				0.507	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		T	151496775	C	T	151496775	2	4	444	1	0	0	0	0	0	0	0	1	3305	796	28	2		2	CGN	1	151496775	Silent	SNP	C	TCGA-BP-5196-01A-01D-1429-08	124832688	151496775	97753846	3	24252											
RUSC1	23623	hgsc.bcm.edu;ucsc.edu	37	1	155292322	155292330	+	In_Frame_Del	DEL	ACACTGGTT	ACACTGGTT	-			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	ACACTGGTT	ACACTGGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:155292322_155292330delACACTGGTT	ENST00000368352.5	+	2	909_917	c.758_766delACACTGGTT	c.(757-768)aacactggttgg>agg	p.253_256NTGW>R	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_In_Frame_Del_p.253_256NTGW>R|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	253					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GAAAACAATAACACTGGTTGGAAAAACAA	0.402																																																0																																										SO:0001651	inframe_deletion	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.758_766delACACTGGTT	1.37:g.155292322_155292330delACACTGGTT	ENSP00000357336:p.Asn253_Trp256delinsArg		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	In_Frame_Del	DEL	ENST00000368352.5	37	CCDS41410.1																																																																																				0.402	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			-	155292330	ACACTGGTT	-	155292322	7	5	444	1	0	1	0	1	0	0	0	0	13756	43	2	0	760	0	RUSC1	1	155292322	In_Frame_Del	DEL	ACACTGGTT	TCGA-BP-5196-01A-01D-1429-08	3795547	155292322	93958299	4	24253											
CAMSAP1L1	23271	hgsc.bcm.edu;ucsc.edu	37	1	200801906	200801912	+	Frame_Shift_Del	DEL	AAGAATA	AAGAATA	-			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	AAGAATA	AAGAATA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:200801906_200801912delAAGAATA	ENST00000236925.4	+	7	942_948	c.893_899delAAGAATA	c.(892-900)caagaatacfs	p.QEY298fs	CAMSAP2_ENST00000358823.2_Frame_Shift_Del_p.QEY287fs|CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.QEY287fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	298	CH.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GAATTTTGCCAAGAATACTTGAACCAG	0.343																																																0																																										SO:0001589	frameshift_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.893_899delAAGAATA	1.37:g.200801906_200801912delAAGAATA	ENSP00000236925:p.Gln298fs		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Del	DEL	ENST00000236925.4	37																																																																																					0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		-	200801912	AAGAATA	-	200801906	7	5	444	1	0	1	0	1	0	0	0	0	2614	130	5	0	882	0	CAMSAP1L1	1	200801906	Frame_Shift_Del	DEL	AAGAATA	TCGA-BP-5196-01A-01D-1429-08	45509584	200801906	48448715	5	24254											
SYT2	127833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202566077	202566077	+	Silent	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:202566077C>T	ENST00000367267.1	-	9	1260	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	SYT2_ENST00000367268.4_Silent_p.V356V	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	356	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.V356V(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GCACGGTGACCACTACCTGGA	0.552																																																1	Substitution - coding silent(1)	kidney(1)											86	68	74					1																	202566077		2203	4300	6503	SO:0001819	synonymous_variant	127833			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.1068G>A	1.37:g.202566077C>T			Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	37	CCDS1427.1																																																																																				0.552	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		T	202566077	C	T	202566077	2	4	444	1	0	0	0	0	0	0	0	1	15479	581	21	2		2	SYT2	1	202566077	Silent	SNP	C	TCGA-BP-5196-01A-01D-1429-08	1764171	202566077	46684544	6	24255											
FBXO28	23219	hgsc.bcm.edu;ucsc.edu	37	1	224345385	224345385	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:224345385delA	ENST00000366862.5	+	5	1087	c.1044delA	c.(1042-1044)cgafs	p.R348fs	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	348										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CTCGGAAACGAAAAAAGGCCA	0.468																																																0													69	74	72					1																	224345385		2203	4300	6503	SO:0001589	frameshift_variant	23219			AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"F-boxes /  "other""	29046	protein-coding gene	gene with protein product	"centromere protein 30"	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.1044delA	1.37:g.224345385delA	ENSP00000355827:p.Arg348fs		E9PEM8|O75070	Frame_Shift_Del	DEL	ENST00000366862.5	37	CCDS1539.1																																																																																				0.468	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		-	224345385	A	-	224345385	7	5	444	1	0	1	0	1	0	0	0	0	5740	233	9	0	1062	0	FBXO28	1	224345385	Frame_Shift_Del	DEL	A	TCGA-BP-5196-01A-01D-1429-08	21779308	224345385	24905236	7	24256											
PTCD3	55037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	86361451	86361451	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:86361451T>A	ENST00000254630.7	+	20	1646	c.1580T>A	c.(1579-1581)cTg>cAg	p.L527Q	SNORD94_ENST00000386037.1_RNA	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	527					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.L527Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CGCAGTGACCTGAGAGAAGAG	0.438																																																1	Substitution - Missense(1)	kidney(1)											106	88	94					2																	86361451		2203	4300	6503	SO:0001583	missense	55037				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1580T>A	2.37:g.86361451T>A	ENSP00000254630:p.Leu527Gln		A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237796	0.58886	.	.	ENSG00000132300	ENST00000254630	T	0.54479	0.57	5.9	5.9	0.94986	.	0.213448	0.41294	D	0.000917	T	0.75474	0.3854	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.982	T	0.77742	-0.2474	10	0.46703	T	0.11	-4.8741	16.3291	0.83001	0.0:0.0:0.0:1.0	.	118;527	Q96EY7-2;Q96EY7	.;PTCD3_HUMAN	Q	527	ENSP00000254630:L527Q	ENSP00000254630:L527Q	L	+	2	0	PTCD3	86214962	1.000000	0.71417	0.757000	0.31301	0.059000	0.15707	5.404000	0.66344	2.257000	0.74773	0.528000	0.53228	CTG		0.438	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		A	86361451	T	A	86361451	3	1	444	1	0	0	0	0	1	0	0	0	12734	1580	55	5	1658	5	PTCD3	2	86361451	Missense_Mutation	SNP	T	TCGA-BP-5196-01A-01D-1429-08		86361451	156837922	8	24257											
ZEB2	9839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	145157442	145157442	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:145157442G>A	ENST00000558170.2	-	8	2496	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y	ZEB2_ENST00000303660.4_Missense_Mutation_p.H438Y|ZEB2_ENST00000409487.3_Missense_Mutation_p.H438Y|ZEB2_ENST00000539609.3_Missense_Mutation_p.H414Y	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	438	SMAD-MH2 binding domain. {ECO:0000250}.				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.H438Y(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACACCTAAGTGCTGCATTGGA	0.473																																					Melanoma(33;1235 1264 5755 16332)											1	Substitution - Missense(1)	kidney(1)											65	70	68					2																	145157442		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1312C>T	2.37:g.145157442G>A	ENSP00000454157:p.His438Tyr		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294084	0.60086	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.15017	2.58;2.57;2.57;2.73;2.46	5.53	5.53	0.82687	.	0.042185	0.85682	D	0.000000	T	0.27594	0.0678	L	0.39898	1.24	0.80722	D	1	P;P;P;D	0.53745	0.871;0.928;0.818;0.962	P;P;B;P	0.51945	0.685;0.558;0.14;0.507	T	0.00423	-1.1748	10	0.52906	T	0.07	-11.4638	19.4645	0.94932	0.0:0.0:1.0:0.0	.	414;303;437;438	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	Y	414;438;438;438;438	ENSP00000443792:H414Y;ENSP00000302501:H438Y;ENSP00000386854:H438Y;ENSP00000395496:H438Y;ENSP00000376601:H438Y	ENSP00000302501:H438Y	H	-	1	0	ZEB2	144873912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.832000	0.99423	2.587000	0.87381	0.655000	0.94253	CAC		0.473	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		A	145157442	G	A	145157442	3	1	444	1	0	0	0	0	1	0	0	0	17629	1319	46	2	2344	2	ZEB2	2	145157442	Missense_Mutation	SNP	G	TCGA-BP-5196-01A-01D-1429-08	58795991	145157442	98041931	9	24258											
MYO1B	4430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	192214900	192214900	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:192214900G>T	ENST00000392318.3	+	7	758	c.511G>T	c.(511-513)Gat>Tat	p.D171Y	MYO1B_ENST00000304164.4_Missense_Mutation_p.D171Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.D171Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.D171Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	171	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D171Y(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CAAATATATGGATATTGAATT	0.343																																																2	Substitution - Missense(2)	kidney(2)											83	86	85					2																	192214900		2203	4298	6501	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.511G>T	2.37:g.192214900G>T	ENSP00000376132:p.Asp171Tyr		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550291	0.86127	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.05	5.05	0.67936	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.985	D	0.91514	0.5229	10	0.87932	D	0	.	18.3714	0.90408	0.0:0.0:1.0:0.0	.	171;171	O43795;O43795-2	MYO1B_HUMAN;.	Y	171	ENSP00000341903:D171Y;ENSP00000376132:D171Y;ENSP00000306382:D171Y;ENSP00000388140:D171Y;ENSP00000376130:D171Y	ENSP00000306382:D171Y	D	+	1	0	MYO1B	191923145	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.329000	0.96413	2.509000	0.84616	0.561000	0.74099	GAT		0.343	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		T	192214900	G	T	192214900	3	4	444	1	0	0	0	0	1	0	0	0	10071	1174	41	4	533	4	MYO1B	2	192214900	Missense_Mutation	SNP	G	TCGA-BP-5196-01A-01D-1429-08	47057458	192214900	50984473	10	24259											
CCDC150	284992	hgsc.bcm.edu;ucsc.edu	37	2	197594682	197594683	+	Splice_Site	INS	-	-	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:197594682_197594683insT	ENST00000389175.4	+	25	2957_2958	c.2822_2823insT	c.(2821-2826)tctttg>tcTtttg	p.L942fs	CCDC150_ENST00000409270.1_Splice_Site_p.L429fs|CCDC150_ENST00000272831.7_Splice_Site_p.L589fs	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	942										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCCTTCCAGTCTTTGAGTATCC	0.411																																																0																																										SO:0001630	splice_region_variant	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.2821-1->T	2.37:g.197594685_197594685dupT			Q6P5U6|Q6P663|Q8N8V5	Frame_Shift_Ins	INS	ENST00000389175.4	37	CCDS46478.1																																																																																				0.411	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	Frame_Shift_Ins	T	197594683	-	T	197594682	8	5	444	1	0	1	1	0	0	0	1	0	2787	927	32	0	2920	0	CCDC150	2	197594682	Splice_Site	INS	-	TCGA-BP-5196-01A-01D-1429-08	5379782	197594682	45604691	11	24260											
CLK1	1195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201721535	201721535	+	Splice_Site	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:201721535C>A	ENST00000321356.4	-	9	1063		c.e9-1		CLK1_ENST00000434813.2_Splice_Site|CLK1_ENST00000409769.2_Splice_Site	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1						cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.?(2)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CATCACGTTTCTGAAAATCAT	0.328																																																2	Unknown(2)	kidney(2)											151	147	149					2																	201721535		2202	4300	6502	SO:0001630	splice_region_variant	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.928-1G>T	2.37:g.201721535C>A			B4DFW7|Q0P694|Q8N5V8	Splice_Site	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984504	0.74474	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0867	0.89460	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLK1	201429780	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.776000	0.85560	2.449000	0.82847	0.491000	0.48974	.		0.328	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2		Intron	A	201721535	C	A	201721535	5	1	444	1	0	0	0	0	0	0	1	0	3538	927	32	4	547	4	CLK1	2	201721535	Splice_Site	SNP	C	TCGA-BP-5196-01A-01D-1429-08	4126853	201721535	41477838	12	24261											
SH3BP4	23677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	235951396	235951396	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:235951396G>T	ENST00000409212.1	+	4	2490	c.1983G>T	c.(1981-1983)ttG>ttT	p.L661F	SH3BP4_ENST00000392011.2_Missense_Mutation_p.L661F|SH3BP4_ENST00000344528.4_Missense_Mutation_p.L661F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	661					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.L661F(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTGGTAAGTTGCTCAAGACTG	0.582																																																1	Substitution - Missense(1)	kidney(1)											69	73	72					2																	235951396		2203	4300	6503	SO:0001583	missense	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1983G>T	2.37:g.235951396G>T	ENSP00000386862:p.Leu661Phe		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409032	0.25378	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.09255	3.0;3.0;3.0	5.26	2.14	0.27477	Variant SH3 (1);	0.073951	0.56097	D	0.000040	T	0.22205	0.0535	L	0.57536	1.79	0.47123	D	0.999328	D;D	0.69078	0.997;0.997	D;D	0.68192	0.956;0.956	T	0.00704	-1.1602	10	0.56958	D	0.05	-21.6834	6.5337	0.22341	0.0884:0.0:0.4552:0.4564	.	661;661	A8K594;Q9P0V3	.;SH3B4_HUMAN	F	661	ENSP00000375867:L661F;ENSP00000386862:L661F;ENSP00000340237:L661F	ENSP00000340237:L661F	L	+	3	2	SH3BP4	235616135	0.949000	0.32298	0.976000	0.42696	0.197000	0.23852	0.063000	0.14410	0.528000	0.28580	0.655000	0.94253	TTG		0.582	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			T	235951396	G	T	235951396	3	4	444	1	0	0	0	0	1	0	0	0	14252	1310	46	4	1989	4	SH3BP4	2	235951396	Missense_Mutation	SNP	G	TCGA-BP-5196-01A-01D-1429-08	34229861	235951396	7247977	13	24262											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10188309	10188309	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr3:10188309T>C	ENST00000256474.2	+	2	1292	c.452T>C	c.(451-453)aTc>aCc	p.I151T	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	151	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I151T(7)|p.I151S(6)|p.I151N(3)|p.I151>?(1)|p.?(1)|p.N150fs*7(1)|p.I151_T152del(1)|p.I151fs*8(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTTGCCAATATCACACTGCCA	0.398		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	22	Substitution - Missense(16)|Deletion - Frameshift(3)|Complex(1)|Deletion - In frame(1)|Unknown(1)	kidney(22)	GRCh37	CM994244	VHL	M							195	182	187					3																	10188309		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.452T>C	3.37:g.10188309T>C	ENSP00000256474:p.Ile151Thr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.915471	0.73098	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99876	-7.41	4.89	4.89	0.63831	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96623	0.9461	10	0.87932	D	0	0.0775	12.7607	0.57363	0.0:0.0:0.0:1.0	.	151	P40337	VHL_HUMAN	T	151;69	ENSP00000256474:I151T	ENSP00000256474:I151T	I	+	2	0	VHL	10163309	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.968000	0.70413	1.966000	0.57179	0.460000	0.39030	ATC		0.398	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10188309	T	C	10188309	3	2	444	1	0	0	0	0	1	0	0	0	17167	1435	50	3	458	3	VHL	3	10188309	Missense_Mutation	SNP	T	TCGA-BP-5196-01A-01D-1429-08		10188309	187834121	14	24263											
TRAT1	50852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	108572578	108572578	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr3:108572578C>A	ENST00000295756.6	+	6	645	c.415C>A	c.(415-417)Caa>Aaa	p.Q139K	TRAT1_ENST00000426646.1_Missense_Mutation_p.Q102K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	139					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Q139K(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TGGAGATGAGCAACTACATGC	0.458																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											108	96	100					3																	108572578		2203	4300	6503	SO:0001583	missense	50852			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.415C>A	3.37:g.108572578C>A	ENSP00000295756:p.Gln139Lys		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	5.593	0.294241	0.10567	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.35048	1.33;1.59	5.6	3.57	0.40892	.	0.797910	0.11539	N	0.553911	T	0.31918	0.0812	L	0.53249	1.67	0.09310	N	1	B;B	0.22909	0.077;0.017	B;B	0.23275	0.045;0.018	T	0.22906	-1.0203	10	0.18276	T	0.48	-6.3522	9.4608	0.38783	0.1684:0.6862:0.1453:0.0	.	102;139	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	K	139;102	ENSP00000295756:Q139K;ENSP00000410097:Q102K	ENSP00000295756:Q139K	Q	+	1	0	TRAT1	110055268	0.002000	0.14202	0.006000	0.13384	0.002000	0.02628	1.299000	0.33424	1.326000	0.45319	0.643000	0.83706	CAA		0.458	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		A	108572578	C	A	108572578	3	1	444	1	0	0	0	0	1	0	0	0	16471	711	25	4	437	4	TRAT1	3	108572578	Missense_Mutation	SNP	C	TCGA-BP-5196-01A-01D-1429-08	98384269	108572578	89449852	15	24264											
GRID2	2895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	94316836	94316836	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr4:94316836G>C	ENST00000282020.4	+	9	1582	c.1324G>C	c.(1324-1326)Gtt>Ctt	p.V442L	GRID2_ENST00000510992.1_Missense_Mutation_p.V347L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	442					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.V442L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GCGTGGAGTGGTTCTACGTGT	0.398																																																1	Substitution - Missense(1)	kidney(1)											220	209	213					4																	94316836		2203	4300	6503	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1324G>C	4.37:g.94316836G>C	ENSP00000282020:p.Val442Leu		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706167	0.48412	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.12465	2.68;2.68	6.02	6.02	0.97574	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	N	0.14661	0.345	0.80722	D	1	B;B	0.30146	0.27;0.27	B;B	0.37091	0.241;0.241	T	0.14504	-1.0470	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	347;442	E9PH24;O43424	.;GRID2_HUMAN	L	442;347	ENSP00000282020:V442L;ENSP00000421257:V347L	ENSP00000282020:V442L	V	+	1	0	GRID2	94535859	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.223000	0.89779	2.857000	0.98124	0.650000	0.86243	GTT		0.398	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			C	94316836	G	C	94316836	3	2	444	1	0	0	0	0	1	0	0	0	6774	1261	44	4	1358	4	GRID2	4	94316836	Missense_Mutation	SNP	G	TCGA-BP-5196-01A-01D-1429-08		94316836	96837440	16	24265											
PDZD2	23037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32052785	32052785	+	Silent	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr5:32052785C>T	ENST00000438447.1	+	9	2122	c.1734C>T	c.(1732-1734)ctC>ctT	p.L578L	PDZD2_ENST00000282493.3_Silent_p.L578L			O15018	PDZD2_HUMAN	PDZ domain containing 2	578					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.L578L(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTGGAGGCTCATTCGGCCAT	0.483																																																1	Substitution - coding silent(1)	kidney(1)											171	160	164					5																	32052785		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1734C>T	5.37:g.32052785C>T			Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																				0.483	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32052785	C	T	32052785	2	4	444	1	0	0	0	0	0	0	0	1	11703	813	29	2		2	PDZD2	5	32052785	Silent	SNP	C	TCGA-BP-5196-01A-01D-1429-08		32052785	148862475	17	24266											
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127609608	127609608	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr5:127609608A>T	ENST00000508053.1	-	67	8738	c.7764T>A	c.(7762-7764)tgT>tgA	p.C2588*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.C2588*			P35556	FBN2_HUMAN	fibrillin 2	2588	EGF-like 44; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C2588*(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAGTGTTTTGACAGATTCCCT	0.448																																																2	Substitution - Nonsense(2)	kidney(2)											119	106	111					5																	127609608		2203	4300	6503	SO:0001587	stop_gained	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7764T>A	5.37:g.127609608A>T	ENSP00000424571:p.Cys2588*		B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	50	16.873317	0.99874	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	4.91	-0.14	0.13456	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8582	0.46810	0.5841:0.0:0.4159:0.0	.	.	.	.	X	2588	.	ENSP00000262464:C2588X	C	-	3	2	FBN2	127637507	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	1.339000	0.33885	-0.090000	0.12462	-0.290000	0.09829	TGT		0.448	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127609608	A	T	127609608	4	4	444	1	0	0	0	0	0	1	0	0	5705	273	10	5	994	5	FBN2	5	127609608	Nonsense_Mutation	SNP	A	TCGA-BP-5196-01A-01D-1429-08	95556823	127609608	53305652	18	24267											
RAPGEF6	51735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	130897689	130897689	+	Silent	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr5:130897689C>T	ENST00000509018.1	-	5	538	c.333G>A	c.(331-333)gaG>gaA	p.E111E	RAPGEF6_ENST00000510071.1_Silent_p.E111E|CTC-432M15.3_ENST00000514667.1_Silent_p.E161E|RAPGEF6_ENST00000296859.6_Silent_p.E111E|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000507093.1_Silent_p.E111E|RAPGEF6_ENST00000307984.5_Silent_p.E111E|RAPGEF6_ENST00000308008.6_Silent_p.E111E	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	111					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.E111E(3)|p.E161E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTTCTGAAGGCTCTAATACAA	0.289																																					Melanoma(168;435 1955 13113 13877 23213)											4	Substitution - coding silent(4)	kidney(4)											135	141	139					5																	130897689		2203	4296	6499	SO:0001819	synonymous_variant	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.333G>A	5.37:g.130897689C>T			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	CCDS34225.1																																																																																				0.289	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		T	130897689	C	T	130897689	2	4	444	1	0	0	0	0	0	0	0	1	13054	796	28	2		2	RAPGEF6	5	130897689	Silent	SNP	C	TCGA-BP-5196-01A-01D-1429-08	3288081	130897689	50017571	19	24268											
SLC34A1	6569	hgsc.bcm.edu;ucsc.edu	37	5	176813524	176813526	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr5:176813524_176813526delCAG	ENST00000324417.5	+	5	580_582	c.489_491delCAG	c.(487-492)tccagc>tcc	p.163_164SS>S	SLC34A1_ENST00000512593.1_In_Frame_Del_p.163_164SS>S	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	163					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCAGAGCTCCAGCACCTCCACA	0.631																																																0																																										SO:0001651	inframe_deletion	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.489_491delCAG	5.37:g.176813524_176813526delCAG	ENSP00000321424:p.Ser164del		B4DPE3	In_Frame_Del	DEL	ENST00000324417.5	37	CCDS4418.1																																																																																				0.631	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		-	176813526	CAG	-	176813524	7	5	444	1	0	1	0	1	0	0	0	0	14573	581	21	0	503	0	SLC34A1	5	176813524	In_Frame_Del	DEL	CAG	TCGA-BP-5196-01A-01D-1429-08	45915835	176813524	4101736	20	24269											
WRNIP1	56897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	2784577	2784577	+	Silent	SNP	G	G	A	rs150885902		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr6:2784577G>A	ENST00000380773.4	+	6	1871	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	WRNIP1_ENST00000380769.4_Silent_p.A334A|WRNIP1_ENST00000380771.4_Silent_p.A529A|WRNIP1_ENST00000380764.1_Silent_p.A170A	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1									p.A554A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				ACCCGTCTGCGTTAACACAAG	0.493													g|||	1	0.000199681	0.0	0.0	5008	,	,		20449	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						A	,	1,4405	2.1+/-5.4	0,1,2202	116	91	100		1662,1587	-2.5	0.1	6	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WRNIP1	NM_020135.2,NM_130395.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	554/666,529/641	2784577	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1662G>A	6.37:g.2784577G>A				Silent	SNP	ENST00000380773.4	37	CCDS4475.1																																																																																				0.493	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		A	2784577	G	A	2784577	2	1	444	1	0	0	0	0	0	0	0	1	17408	1132	40	1		1	WRNIP1	6	2784577	Silent	SNP	G	TCGA-BP-5196-01A-01D-1429-08		2784577	168330490	21	24270											
TMEM30A	55754	broad.mit.edu;hgsc.bcm.edu	37	6	75968691	75968691	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr6:75968691G>C	ENST00000230461.6	-	6	1026	c.697C>G	c.(697-699)Cct>Gct	p.P233A	TMEM30A_ENST00000370050.5_Missense_Mutation_p.P114A|TMEM30A_ENST00000475111.2_Missense_Mutation_p.P197A	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	233					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P233A(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGTTCACAGGCTTTGTTGTA	0.363																																																1	Substitution - Missense(1)	kidney(1)											52	50	51					6																	75968691		2203	4300	6503	SO:0001583	missense	55754			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.697C>G	6.37:g.75968691G>C	ENSP00000230461:p.Pro233Ala		A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749942	0.89753	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.89511	0.6736	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92286	0.5837	9	0.59425	D	0.04	.	19.4728	0.94969	0.0:0.0:1.0:0.0	.	197;233	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	A	233;217;114;197	.	ENSP00000230461:P233A	P	-	1	0	TMEM30A	76025411	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.476000	0.97823	2.605000	0.88082	0.591000	0.81541	CCT		0.363	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		C	75968691	G	C	75968691	3	2	444	1	0	0	0	0	1	0	0	0	16158	1203	42	4	396	4	TMEM30A	6	75968691	Missense_Mutation	SNP	G	TCGA-BP-5196-01A-01D-1429-08	73184114	75968691	95146376	22	24271											
PHIP	55023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	79708068	79708068	+	Silent	SNP	G	G	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr6:79708068G>A	ENST00000275034.4	-	18	2087	c.1920C>T	c.(1918-1920)atC>atT	p.I640I		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	640					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.I640I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCAGTGGGCTGATCTCCTGGT	0.393																																																1	Substitution - coding silent(1)	kidney(1)											133	114	120					6																	79708068		2203	4300	6503	SO:0001819	synonymous_variant	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1920C>T	6.37:g.79708068G>A			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	CCDS4987.1																																																																																				0.393	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			A	79708068	G	A	79708068	2	1	444	1	0	0	0	0	0	0	0	1	11844	1280	45	2		2	PHIP	6	79708068	Silent	SNP	G	TCGA-BP-5196-01A-01D-1429-08	3739377	79708068	91406999	23	24272											
TWISTNB	221830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	19737956	19737956	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr7:19737956T>G	ENST00000222567.5	-	4	1070	c.1000A>C	c.(1000-1002)Aaa>Caa	p.K334Q		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	334	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.K334Q(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AAATTACTTTTCCCTTTTCTT	0.303																																																1	Substitution - Missense(1)	kidney(1)											62	68	66					7																	19737956		2203	4297	6500	SO:0001583	missense	221830			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.1000A>C	7.37:g.19737956T>G	ENSP00000222567:p.Lys334Gln		A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563585	0.65651	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.04	3.87	0.44632	.	0.322125	0.35555	N	0.003123	T	0.28863	0.0716	L	0.34521	1.04	0.24157	N	0.99567	P	0.42785	0.79	B	0.41571	0.36	T	0.10567	-1.0624	9	0.59425	D	0.04	-3.5481	10.0802	0.42384	0.0:0.0822:0.0:0.9178	.	334	Q3B726	RPA43_HUMAN	Q	334	.	ENSP00000222567:K334Q	K	-	1	0	TWISTNB	19704481	0.993000	0.37304	0.015000	0.15790	0.807000	0.45602	2.659000	0.46741	0.929000	0.37192	0.397000	0.26171	AAA		0.303	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			G	19737956	T	G	19737956	3	3	444	1	0	0	0	0	1	0	0	0	16789	1792	62	5	20	5	TWISTNB	7	19737956	Missense_Mutation	SNP	T	TCGA-BP-5196-01A-01D-1429-08		19737956	139400707	24	24273											
ZNF395	55893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28206650	28206650	+	Silent	SNP	A	A	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr8:28206650A>G	ENST00000344423.5	-	9	1553	c.1422T>C	c.(1420-1422)agT>agC	p.S474S	ZNF395_ENST00000523095.1_Silent_p.S474S|ZNF395_ENST00000523202.1_Silent_p.S474S	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S474S(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		ACCTGGCACCACTCTGGGCCC	0.632																																																1	Substitution - coding silent(1)	kidney(1)											113	118	116					8																	28206650		2203	4300	6503	SO:0001819	synonymous_variant	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1422T>C	8.37:g.28206650A>G			B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	CCDS6067.1																																																																																				0.632	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			G	28206650	A	G	28206650	2	3	444	1	0	0	0	0	0	0	0	1	17886	156	6	3		3	ZNF395	8	28206650	Silent	SNP	A	TCGA-BP-5196-01A-01D-1429-08		28206650	118157372	25	24274											
RRS1	23212	hgsc.bcm.edu;ucsc.edu	37	8	67342008	67342009	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr8:67342008_67342009insA	ENST00000320270.2	+	1	746_747	c.642_643insA	c.(643-645)aagfs	p.K215fs	ADHFE1_ENST00000379385.4_5'Flank|RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000415254.1_5'Flank|ADHFE1_ENST00000396623.3_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	215					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GACACCAGAGTAAGGAGGAGCT	0.688																																																0																																										SO:0001589	frameshift_variant	23212			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.644dupA	8.37:g.67342010_67342010dupA	ENSP00000322396:p.Lys215fs		Q9BUX8	Frame_Shift_Ins	INS	ENST00000320270.2	37	CCDS6189.1																																																																																				0.688	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	NM_015169		A	67342009	-	A	67342008	7	5	444	1	0	1	1	0	0	0	0	0	13698	1635	57	0	644	0	RRS1	8	67342008	Frame_Shift_Ins	INS	-	TCGA-BP-5196-01A-01D-1429-08	39135358	67342008	79022014	26	24275											
ZFHX4	79776	broad.mit.edu	37	8	77776069	77776069	+	Silent	SNP	T	T	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr8:77776069T>C	ENST00000521891.2	+	11	10567	c.10119T>C	c.(10117-10119)gcT>gcC	p.A3373A	ZFHX4_ENST00000455469.2_Silent_p.A3328A|ZFHX4_ENST00000050961.6_Silent_p.A3324A|ZFHX4_ENST00000518282.1_Silent_p.A3347A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A3357A(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGTACTGCTACAGAAAGCA	0.413										HNSCC(33;0.089)																																						1	Substitution - coding silent(1)	kidney(1)											29	27	27					8																	77776069		1855	4075	5930	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10119T>C	8.37:g.77776069T>C			G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		C	77776069	T	C	77776069	2	2	444	1	0	0	0	0	0	0	0	1	17640	1509	53	3		3	ZFHX4	8	77776069	Silent	SNP	T	TCGA-BP-5196-01A-01D-1429-08	10434061	77776069	68587953	27	24276											
HEY1	23462	broad.mit.edu;hgsc.bcm.edu	37	8	80678002	80678002	+	Silent	SNP	G	G	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr8:80678002G>A	ENST00000354724.3	-	5	535	c.336C>T	c.(334-336)taC>taT	p.Y112Y	HEY1_ENST00000337919.5_Silent_p.Y116Y|RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000523976.1_Silent_p.Y22Y	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	112	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y116Y(1)|p.Y112Y(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GCGCGTCAAAGTAACCTAAGC	0.488			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	2	Substitution - coding silent(2)	kidney(2)											36	39	38					8																	80678002		2203	4300	6503	SO:0001819	synonymous_variant	23462			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"Basic helix-loop-helix proteins"	4880	protein-coding gene	gene with protein product		602953	"hairy/enhancer-of-split related with YRPW motif 1"			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.336C>T	8.37:g.80678002G>A		1200	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	ENST00000354724.3	37	CCDS6225.1																																																																																				0.488	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		A	80678002	G	A	80678002	2	1	444	1	0	0	0	0	0	0	0	1	7080	1024	36	2		2	HEY1	8	80678002	Silent	SNP	G	TCGA-BP-5196-01A-01D-1429-08	2901933	80678002	65686020	28	24277											
SGPL1	8879	broad.mit.edu;hgsc.bcm.edu	37	10	72617449	72617449	+	Splice_Site	SNP	T	T	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr10:72617449T>C	ENST00000373202.3	+	6	686		c.e6+2			NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1						androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.?(1)		large_intestine(4)	4						CTTGTGAAGGTGAGTGTCCAG	0.473																																					Colon(151;1054 2458 6676 40971)											1	Unknown(1)	kidney(1)											127	120	123					10																	72617449		2203	4300	6503	SO:0001630	splice_region_variant	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.486+2T>C	10.37:g.72617449T>C			B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Splice_Site	SNP	ENST00000373202.3	37	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.827060	0.50739	.	.	ENSG00000166224	ENST00000373202;ENST00000299297;ENST00000409118	.	.	.	5.77	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3479	0.43916	0.0:0.0779:0.0:0.9221	.	.	.	.	.	-1	.	.	.	+	.	.	SGPL1	72287455	1.000000	0.71417	0.980000	0.43619	0.543000	0.35085	5.083000	0.64456	2.206000	0.71126	0.477000	0.44152	.		0.473	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901	Intron	C	72617449	T	C	72617449	5	2	444	1	0	0	0	0	0	0	1	0	14224	1710	59	3	506	3	SGPL1	10	72617449	Splice_Site	SNP	T	TCGA-BP-5196-01A-01D-1429-08		72617449	62917298	29	24278											
MMS19	64210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99223688	99223688	+	Silent	SNP	A	A	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr10:99223688A>G	ENST00000438925.2	-	19	2174	c.1839T>C	c.(1837-1839)ccT>ccC	p.P613P	MMS19_ENST00000370782.2_Silent_p.P613P|MMS19_ENST00000327277.7_Silent_p.P249P|MMS19_ENST00000355839.6_Silent_p.P570P|MMS19_ENST00000327238.10_Silent_p.P515P	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	613					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)	p.P613P(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGCAACTCTCAGGGTCCTGCT	0.507								Direct reversal of damage			OREG0020414	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											94	76	82					10																	99223688		2203	4300	6503	SO:0001819	synonymous_variant	64210			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.1839T>C	10.37:g.99223688A>G		1342	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Silent	SNP	ENST00000438925.2	37	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	A	2.593	-0.294698	0.05568	.	.	ENSG00000155229	ENST00000434538	.	.	.	5.3	-7.99	0.01131	.	.	.	.	.	T	0.47838	0.1467	.	.	.	0.45634	D	0.99856	.	.	.	.	.	.	T	0.53975	-0.8362	4	.	.	.	.	8.7147	0.34403	0.4724:0.1746:0.353:0.0	.	.	.	.	P	188	.	.	L	-	2	0	MMS19	99213678	0.000000	0.05858	0.383000	0.26132	0.237000	0.25408	-2.745000	0.00796	-1.766000	0.01302	-1.272000	0.01410	CTG		0.507	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			G	99223688	A	G	99223688	2	3	444	1	0	0	0	0	0	0	0	1	9674	175	7	3		3	MMS19	10	99223688	Silent	SNP	A	TCGA-BP-5196-01A-01D-1429-08	26606239	99223688	36311059	30	24279											
PI4K2A	55361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99400914	99400914	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr10:99400914T>G	ENST00000370631.3	+	1	472	c.415T>G	c.(415-417)Ttc>Gtc	p.F139V	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	139	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)	p.F139V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CGGAAGCTACTTCGTCAAGGA	0.706																																																1	Substitution - Missense(1)	kidney(1)											13	15	14					10																	99400914		1931	3895	5826	SO:0001583	missense	55361			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.415T>G	10.37:g.99400914T>G	ENSP00000359665:p.Phe139Val		D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.031521	0.93575	.	.	ENSG00000155252	ENST00000370631	T	0.78003	-1.14	3.75	3.75	0.43078	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.052006	0.85682	N	0.000000	D	0.87585	0.6214	M	0.92880	3.355	0.80722	D	1	P	0.44241	0.829	P	0.53689	0.732	D	0.90257	0.4298	10	0.87932	D	0	-7.7591	12.6312	0.56659	0.0:0.0:0.0:1.0	.	139	Q9BTU6	P4K2A_HUMAN	V	139	ENSP00000359665:F139V	ENSP00000359665:F139V	F	+	1	0	PI4K2A	99390904	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.640000	0.83355	1.570000	0.49709	0.260000	0.18958	TTC		0.706	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		G	99400914	T	G	99400914	3	3	444	1	0	0	0	0	1	0	0	0	11873	1609	56	5	417	5	PI4K2A	10	99400914	Missense_Mutation	SNP	T	TCGA-BP-5196-01A-01D-1429-08	177226	99400914	36133833	31	24280											
C10orf81	79949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	115534737	115534737	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr10:115534737C>A	ENST00000369310.3	+	9	1476	c.914C>A	c.(913-915)aCa>aAa	p.T305K	PLEKHS1_ENST00000369312.4_Missense_Mutation_p.T223K|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.T311K|PLEKHS1_ENST00000354462.3_Missense_Mutation_p.T55K|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.T125K	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	305								p.T311K(1)|p.T223K(1)									GCACAGACCACAAATGACCAA	0.478																																																2	Substitution - Missense(2)	kidney(2)											82	71	74					10																	115534737		2203	4300	6503	SO:0001583	missense	0			AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.914C>A	10.37:g.115534737C>A	ENSP00000358316:p.Thr305Lys		A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	CCDS53580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.436|3.436	-0.115052|-0.115052	0.06881|0.06881	.|.	.|.	ENSG00000148735|ENSG00000148735	ENST00000448805|ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309;ENST00000354462	.|T;T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52;1.52	5.64|5.64	-3.89|-3.89	0.04193|0.04193	.|.	.|0.918218	.|0.09393	.|N	.|0.808360	T|T	0.17959|0.17959	0.0431|0.0431	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.29988	.|0.066;0.264;0.066;0.138	.|B;B;B;B	.|0.21151	.|0.029;0.033;0.027;0.027	T|T	0.25363|0.25363	-1.0134|-1.0134	5|10	.|0.30078	.|T	.|0.28	-0.2453|-0.2453	1.2572|1.2572	0.01994|0.01994	0.1262:0.2621:0.2484:0.3633|0.1262:0.2621:0.2484:0.3633	.|.	.|305;305;305;311	.|Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.|CJ081_HUMAN;.;.;.	Q|K	21|311;223;305;125;55	.|ENSP00000354332:T311K;ENSP00000358318:T223K;ENSP00000358316:T305K;ENSP00000358315:T125K;ENSP00000346451:T55K	.|ENSP00000346451:T55K	H|T	+|+	3|2	2|0	C10orf81|C10orf81	115524727|115524727	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.092000|0.092000	0.18411|0.18411	-1.919000|-1.919000	0.01572|0.01572	-0.264000|-0.264000	0.09365|0.09365	0.591000|0.591000	0.81541|0.81541	CAC|ACA		0.478	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		A	115534737	C	A	115534737	3	1	444	1	0	0	0	0	1	0	0	0	1621	478	17	4	966	4	C10orf81	10	115534737	Missense_Mutation	SNP	C	TCGA-BP-5196-01A-01D-1429-08	16133823	115534737	20000010	32	24281											
MKI67	4288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129913557	129913557	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr10:129913557C>G	ENST00000368654.3	-	7	1490	c.1115G>C	c.(1114-1116)aGa>aCa	p.R372T	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	372					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R372T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CACAGATTCTCTTCTACCAGT	0.398																																																1	Substitution - Missense(1)	kidney(1)											120	125	123					10																	129913557		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1115G>C	10.37:g.129913557C>G	ENSP00000357643:p.Arg372Thr		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916918	0.33815	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01359	4.98	3.66	2.75	0.32379	.	1.182360	0.06473	N	0.731502	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	0.999996	P	0.43477	0.808	B	0.30646	0.118	T	0.50849	-0.8779	10	0.87932	D	0	.	6.9261	0.24416	0.0:0.8719:0.0:0.1281	.	372	P46013	KI67_HUMAN	T	372	ENSP00000357643:R372T	ENSP00000357643:R372T	R	-	2	0	MKI67	129803547	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.702000	0.25631	0.880000	0.35969	0.655000	0.94253	AGA		0.398	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		G	129913557	C	G	129913557	3	3	444	1	0	0	0	0	1	0	0	0	9600	913	32	4	8691	4	MKI67	10	129913557	Missense_Mutation	SNP	C	TCGA-BP-5196-01A-01D-1429-08	14378820	129913557	5621190	33	24282											
IRF7	3665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	614301	614301	+	Silent	SNP	G	G	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr11:614301G>A	ENST00000397574.2	-	6	921	c.552C>T	c.(550-552)ctC>ctT	p.L184L	IRF7_ENST00000348655.6_Silent_p.L184L|IRF7_ENST00000397566.1_Silent_p.L197L|IRF7_ENST00000525445.1_Silent_p.L78L|IRF7_ENST00000397570.1_Silent_p.L184L|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000330243.5_Silent_p.L197L	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	184					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.L197L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCACTGCCTGGAGCAGGAGGT	0.657																																																1	Substitution - coding silent(1)	kidney(1)											35	35	35					11																	614301		2200	4298	6498	SO:0001819	synonymous_variant	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.552C>T	11.37:g.614301G>A			B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	CCDS7703.1																																																																																				0.657	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		A	614301	G	A	614301	2	1	444	1	0	0	0	0	0	0	0	1	7837	1161	41	2		2	IRF7	11	614301	Silent	SNP	G	TCGA-BP-5196-01A-01D-1429-08		614301	134392215	34	24283											
OR4C16	219428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55339950	55339950	+	Missense_Mutation	SNP	C	C	T	rs199938003		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr11:55339950C>T	ENST00000314634.3	+	1	347	c.347C>T	c.(346-348)aCg>aTg	p.T116M		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T116M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTCATCCTCACGGCTGTTGAC	0.512													c|||	1	0.000199681	0.0	0.0	5008	,	,		20312	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											202	195	198					11																	55339950		2201	4296	6497	SO:0001583	missense	219428			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.347C>T	11.37:g.55339950C>T	ENSP00000324913:p.Thr116Met		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.032	-0.422190	0.04734	.	.	ENSG00000181935	ENST00000314634	T	0.00672	5.89	4.98	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.068011	0.64402	N	0.000007	T	0.00144	0.0004	N	0.00001	-3.81	0.29297	N	0.868941	B	0.06786	0.001	B	0.01281	0.0	T	0.36065	-0.9763	10	0.02654	T	1	.	8.8368	0.35117	0.0:0.0895:0.0:0.9105	.	116	Q8NGL9	OR4CG_HUMAN	M	116	ENSP00000324913:T116M	ENSP00000324913:T116M	T	+	2	0	OR4C16	55096526	1.000000	0.71417	0.991000	0.47740	0.864000	0.49448	3.057000	0.49931	0.935000	0.37341	-0.362000	0.07510	ACG		0.512	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		T	55339950	C	T	55339950	3	4	444	1	0	0	0	0	1	0	0	0	11051	536	19	1	349	1	OR4C16	11	55339950	Missense_Mutation	SNP	C	TCGA-BP-5196-01A-01D-1429-08	54725649	55339950	79666566	35	24284											
SYTL2	54843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	85409119	85409119	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr11:85409119T>A	ENST00000528231.1	-	16	2633	c.2356A>T	c.(2356-2358)Aaa>Taa	p.K786*	SYTL2_ENST00000389960.4_Nonsense_Mutation_p.K762*|SYTL2_ENST00000359152.5_Nonsense_Mutation_p.K1632*|SYTL2_ENST00000525423.1_Nonsense_Mutation_p.K1108*|SYTL2_ENST00000389958.3_Nonsense_Mutation_p.K217*|SYTL2_ENST00000525702.1_Nonsense_Mutation_p.K228*|SYTL2_ENST00000524452.1_Nonsense_Mutation_p.K762*|SYTL2_ENST00000316356.4_Nonsense_Mutation_p.K787*|SYTL2_ENST00000529581.1_Nonsense_Mutation_p.K228*|SYTL2_ENST00000354566.3_Nonsense_Mutation_p.K1124*|SYTL2_ENST00000533892.1_Nonsense_Mutation_p.K188*|SYTL2_ENST00000527523.1_Nonsense_Mutation_p.K754*	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	786	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.K1124*(1)|p.K787*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGAAGCTTTTTACCTACAATA	0.403																																																2	Substitution - Nonsense(2)	kidney(2)											69	66	67					11																	85409119		2203	4299	6502	SO:0001587	stop_gained	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2356A>T	11.37:g.85409119T>A	ENSP00000431701:p.Lys786*		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Nonsense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	T	32	5.184032	0.94885	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452	.	.	.	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-26.6469	10.5563	0.45118	0.0:0.0722:0.0:0.9278	.	.	.	.	X	762;1632;1124;787;228;1108;228;217;503;786;188;754;762	.	.	K	-	1	0	SYTL2	85086767	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	2.911000	0.48774	2.289000	0.77006	0.533000	0.62120	AAA		0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		A	85409119	T	A	85409119	4	1	444	1	0	0	0	0	0	1	0	0	15488	1763	61	5	460	5	SYTL2	11	85409119	Nonsense_Mutation	SNP	T	TCGA-BP-5196-01A-01D-1429-08	30069169	85409119	49597397	36	24285											
B3GAT1	27087	broad.mit.edu	37	11	134253723	134253723	+	Missense_Mutation	SNP	C	C	T	rs374620417		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr11:134253723C>T	ENST00000524765.1	-	3	5016	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	B3GAT1_ENST00000537389.1_Missense_Mutation_p.A171T|B3GAT1_ENST00000392580.1_Missense_Mutation_p.A158T|B3GAT1_ENST00000312527.4_Missense_Mutation_p.A158T|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	158					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.A158T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGGTCGCGGGCGTCTCCGCGC	0.731																																																1	Substitution - Missense(1)	kidney(1)						C	THR/ALA,THR/ALA	0,4352		0,0,2176	30	27	28		472,472	2.3	0.8	11		28	1,8461		0,1,4230	no	missense,missense	B3GAT1	NM_018644.3,NM_054025.2	58,58	0,1,6406	TT,TC,CC		0.0118,0.0,0.0078	benign,benign	158/335,158/335	134253723	1,12813	2176	4231	6407	SO:0001583	missense	27087			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.472G>A	11.37:g.134253723C>T	ENSP00000433847:p.Ala158Thr		Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481952	0.44147	0.0	1.18E-4	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.27	2.34	0.29019	.	0.407858	0.28327	N	0.015748	T	0.30665	0.0772	N	0.03608	-0.345	0.33903	D	0.638788	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19745	-1.0296	10	0.14252	T	0.57	-16.2624	6.1032	0.20059	0.0:0.5117:0.0:0.4883	.	171;158	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	T	158;158;158;171	ENSP00000376359:A158T;ENSP00000307875:A158T;ENSP00000433847:A158T;ENSP00000445983:A171T	ENSP00000307875:A158T	A	-	1	0	B3GAT1	133758933	1.000000	0.71417	0.750000	0.31169	0.970000	0.65996	2.541000	0.45735	0.598000	0.29829	0.561000	0.74099	GCC		0.731	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		T	134253723	C	T	134253723	3	4	444	1	0	0	0	0	1	0	0	0	1253	768	27	1	544	1	B3GAT1	11	134253723	Missense_Mutation	SNP	C	TCGA-BP-5196-01A-01D-1429-08	48844604	134253723	752793	37	24286											
C12orf40	283461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	40114940	40114940	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr12:40114940C>A	ENST00000324616.5	+	13	2000	c.1846C>A	c.(1846-1848)Cta>Ata	p.L616I		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	616								p.L616I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACAGTGTGATCTAATTTCAAA	0.413																																																1	Substitution - Missense(1)	kidney(1)											147	140	142					12																	40114940		1938	4134	6072	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1846C>A	12.37:g.40114940C>A	ENSP00000317671:p.Leu616Ile		B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	C	3.763	-0.049147	0.07407	.	.	ENSG00000180116	ENST00000324616	T	0.39787	1.06	4.79	1.02	0.19986	.	0.722644	0.12363	N	0.475476	T	0.13970	0.0338	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31194	-0.9952	10	0.07990	T	0.79	.	5.4746	0.16688	0.5394:0.3643:0.0963:0.0	.	616	Q86WS4	CL040_HUMAN	I	616	ENSP00000317671:L616I	ENSP00000317671:L616I	L	+	1	2	C12orf40	38401207	0.247000	0.23920	0.001000	0.08648	0.871000	0.50021	0.744000	0.26245	0.076000	0.16826	-0.535000	0.04281	CTA		0.413	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		A	40114940	C	A	40114940	3	1	444	1	0	0	0	0	1	0	0	0	1688	912	32	4	1896	4	C12orf40	12	40114940	Missense_Mutation	SNP	C	TCGA-BP-5196-01A-01D-1429-08		40114940	93736955	38	24287											
LRRIQ1	84125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	85438507	85438507	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr12:85438507G>A	ENST00000393217.2	+	4	317	c.256G>A	c.(256-258)Gga>Aga	p.G86R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	86								p.G86R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTGTAGTTATGGAGCAGTTTC	0.279																																																2	Substitution - Missense(2)	kidney(2)											57	61	60					12																	85438507		2190	4241	6431	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.256G>A	12.37:g.85438507G>A	ENSP00000376910:p.Gly86Arg		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	3.012	-0.203783	0.06180	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	T;T	0.54675	1.23;0.56	4.79	1.94	0.25998	.	0.154165	0.30142	N	0.010308	T	0.43144	0.1234	L	0.58101	1.795	0.20926	N	0.999829	B;B	0.21225	0.053;0.035	B;B	0.15484	0.012;0.013	T	0.42310	-0.9459	10	0.72032	D	0.01	.	5.1951	0.15232	0.1866:0.1688:0.6446:0.0	.	86;86	Q96JM4;C9JI57	LRIQ1_HUMAN;.	R	86	ENSP00000376906:G86R;ENSP00000376910:G86R	ENSP00000256007:G86R	G	+	1	0	LRRIQ1	83962638	1.000000	0.71417	0.056000	0.19401	0.253000	0.25986	1.524000	0.35942	0.314000	0.23086	0.460000	0.39030	GGA		0.279	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		A	85438507	G	A	85438507	3	1	444	1	0	0	0	0	1	0	0	0	9031	1349	47	2	266	2	LRRIQ1	12	85438507	Missense_Mutation	SNP	G	TCGA-BP-5196-01A-01D-1429-08	45323567	85438507	48413388	39	24288											
POC1B	282809	hgsc.bcm.edu;ucsc.edu	37	12	89865497	89865498	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr12:89865497_89865498insT	ENST00000313546.3	-	6	697_698	c.569_570insA	c.(568-570)aatfs	p.N190fs	POC1B_ENST00000378528.2_Intron|POC1B_ENST00000549035.1_Frame_Shift_Ins_p.N148fs|POC1B_ENST00000541909.1_Frame_Shift_Ins_p.N60fs|POC1B_ENST00000393179.4_Frame_Shift_Ins_p.N60fs|POC1B_ENST00000549504.1_Intron	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	190					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AGTCCACAAAATTTGCAAATCT	0.371																																																0																																										SO:0001589	frameshift_variant	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.570dupA	12.37:g.89865500_89865500dupT	ENSP00000323302:p.Asn190fs		G3V1X0	Frame_Shift_Ins	INS	ENST00000313546.3	37	CCDS31869.1																																																																																				0.371	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		T	89865498	-	T	89865497	7	5	444	1	0	1	1	0	0	0	0	0	12178	98	4	0	894	0	POC1B	12	89865497	Frame_Shift_Ins	INS	-	TCGA-BP-5196-01A-01D-1429-08	4426990	89865497	43986398	40	24289											
IFT81	28981	hgsc.bcm.edu;ucsc.edu	37	12	110628765	110628766	+	Frame_Shift_Del	DEL	AC	AC	-	rs547209165		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr12:110628765_110628766delAC	ENST00000242591.5	+	13	1885_1886	c.1379_1380delAC	c.(1378-1380)tacfs	p.Y460fs	IFT81_ENST00000552912.1_Frame_Shift_Del_p.Y460fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	460					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						GGATATAGTTACACCCAAGAAG	0.361																																																0																																										SO:0001589	frameshift_variant	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1379_1380delAC	12.37:g.110628767_110628768delAC	ENSP00000242591:p.Tyr460fs		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Frame_Shift_Del	DEL	ENST00000242591.5	37	CCDS41831.1																																																																																				0.361	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		-	110628766	AC	-	110628765	7	5	444	1	0	1	0	1	0	0	0	0	7567	391	14	0	1537	0	IFT81	12	110628765	Frame_Shift_Del	DEL	AC	TCGA-BP-5196-01A-01D-1429-08	20763268	110628765	23223130	41	24290											
PGAM5	192111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133295376	133295376	+	Intron	SNP	T	T	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr12:133295376T>G	ENST00000498926.2	+	5	777				PGAM5_ENST00000454808.2_Intron|PXMP2_ENST00000545677.1_Intron|PGAM5_ENST00000541034.1_Intron|PGAM5_ENST00000543955.1_Intron|PGAM5_ENST00000317555.2_Missense_Mutation_p.F250V	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5						dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)	p.F250V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CGCTGGGGATTTTGTGCTTCT	0.617																																																1	Substitution - Missense(1)	kidney(1)											158	135	143					12																	133295376		2203	4300	6503	SO:0001627	intron_variant	192111			BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.719+670T>G	12.37:g.133295376T>G			A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	ENST00000498926.2	37	CCDS53845.1	.	.	.	.	.	.	.	.	.	.	T	5.295	0.239824	0.10023	.	.	ENSG00000247077	ENST00000317555	.	.	.	0.5	-1.0	0.10196	.	0.169276	0.39687	N	0.001295	T	0.14614	0.0353	.	.	.	0.09310	N	1	P	0.41041	0.736	B	0.28784	0.094	T	0.16100	-1.0414	7	0.87932	D	0	.	.	.	.	.	250	Q96HS1-2	.	V	250	.	ENSP00000321503:F250V	F	+	1	0	PGAM5	131805449	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	0.470000	0.22084	-0.501000	0.06605	-0.569000	0.04157	TTT		0.617	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575		G	133295376	T	G	133295376	1	3	444	0	1	0	0	0	0	0	0	0	11778	1841	64	5		5	PGAM5	12	133295376	Intron	SNP	T	TCGA-BP-5196-01A-01D-1429-08	22666611	133295376	556519	42	24291											
FAM123A	219287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25744209	25744209	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr13:25744209C>T	ENST00000515384.1	-	1	2216	c.1549G>A	c.(1549-1551)Gtc>Atc	p.V517I	AMER2_ENST00000357816.2_Missense_Mutation_p.V398I|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Missense_Mutation_p.V398I			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	517					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.V398I(1)|p.V517I(1)									CTGTTGGGGACGCCTTCCTGC	0.657																																																2	Substitution - Missense(2)	kidney(2)											69	63	65					13																	25744209		2203	4300	6503	SO:0001583	missense	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1549G>A	13.37:g.25744209C>T	ENSP00000426528:p.Val517Ile		Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	9.652	1.141766	0.21205	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.19250	2.16;2.16;2.16	4.98	3.04	0.35103	.	0.306760	0.31041	N	0.008370	T	0.14056	0.0340	L	0.39898	1.24	0.28255	N	0.925099	B;B	0.24576	0.106;0.022	B;B	0.18561	0.022;0.013	T	0.09862	-1.0655	10	0.40728	T	0.16	-12.2641	4.8775	0.13664	0.1539:0.6073:0.1497:0.0891	.	517;398	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	I	398;398;517	ENSP00000350469:V398I;ENSP00000371277:V398I;ENSP00000426528:V517I	ENSP00000350469:V398I	V	-	1	0	FAM123A	24642209	0.812000	0.29077	0.949000	0.38748	0.984000	0.73092	1.402000	0.34600	1.290000	0.44636	0.561000	0.74099	GTC		0.657	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		T	25744209	C	T	25744209	3	4	444	1	0	0	0	0	1	0	0	0	5424	536	19	1	470	1	FAM123A	13	25744209	Missense_Mutation	SNP	C	TCGA-BP-5196-01A-01D-1429-08		25744209	89425669	43	24292											
KBTBD6	89890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41706394	41706394	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr13:41706394T>C	ENST00000379485.1	-	1	488	c.254A>G	c.(253-255)aAc>aGc	p.N85S	KBTBD6_ENST00000499385.2_Intron	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	85	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.N85S(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CACATTGCGGTTGCAGGGGAA	0.622																																																1	Substitution - Missense(1)	kidney(1)											74	67	69					13																	41706394		2203	4300	6503	SO:0001583	missense	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.254A>G	13.37:g.41706394T>C	ENSP00000368799:p.Asn85Ser		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	t	9.433	1.086047	0.20390	.	.	ENSG00000165572	ENST00000379485	T	0.70399	-0.48	3.59	3.59	0.41128	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.055231	0.64402	D	0.000001	T	0.47432	0.1445	N	0.05177	-0.1	0.80722	D	1	P	0.40282	0.711	B	0.37346	0.247	T	0.55774	-0.8088	10	0.56958	D	0.05	.	10.421	0.44350	0.0:0.0:0.0:1.0	.	85	Q86V97	KBTB6_HUMAN	S	85	ENSP00000368799:N85S	ENSP00000368799:N85S	N	-	2	0	KBTBD6	40604394	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	4.472000	0.60189	1.646000	0.50622	0.260000	0.18958	AAC		0.622	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		C	41706394	T	C	41706394	3	2	444	1	0	0	0	0	1	0	0	0	7999	1725	60	3	1774	3	KBTBD6	13	41706394	Missense_Mutation	SNP	T	TCGA-BP-5196-01A-01D-1429-08	15962185	41706394	73463484	44	24293											
OLFM4	10562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	53624774	53624774	+	Silent	SNP	A	A	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr13:53624774A>G	ENST00000219022.2	+	5	1479	c.1401A>G	c.(1399-1401)ctA>ctG	p.L467L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	467	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.L467L(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGGGCAAACTAGACATTGTAA	0.383																																																1	Substitution - coding silent(1)	kidney(1)											112	110	111					13																	53624774		2203	4300	6503	SO:0001819	synonymous_variant	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1401A>G	13.37:g.53624774A>G			O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	CCDS9440.1																																																																																				0.383	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		G	53624774	A	G	53624774	2	3	444	1	0	0	0	0	0	0	0	1	10857	407	15	3		3	OLFM4	13	53624774	Silent	SNP	A	TCGA-BP-5196-01A-01D-1429-08	11918380	53624774	61545104	45	24294											
CATSPERB	79820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	92054360	92054360	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr14:92054360C>A	ENST00000256343.3	-	25	3175	c.3019G>T	c.(3019-3021)Gca>Tca	p.A1007S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	1007					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.A1007S(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTATACACTGCAGCACCAAGA	0.299																																																1	Substitution - Missense(1)	kidney(1)											136	136	136					14																	92054360		2203	4296	6499	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.3019G>T	14.37:g.92054360C>A	ENSP00000256343:p.Ala1007Ser		A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	9.421	1.082920	0.20309	.	.	ENSG00000133962	ENST00000256343	T	0.41065	1.01	5.1	-2.87	0.05700	.	0.626496	0.14067	N	0.343689	T	0.18130	0.0435	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28870	-1.0030	10	0.05721	T	0.95	-1.045	1.6645	0.02799	0.406:0.2502:0.2243:0.1195	.	1007	Q9H7T0	CTSRB_HUMAN	S	1007	ENSP00000256343:A1007S	ENSP00000256343:A1007S	A	-	1	0	CATSPERB	91124113	0.000000	0.05858	0.014000	0.15608	0.024000	0.10985	-0.664000	0.05292	-0.201000	0.10284	-1.053000	0.02334	GCA		0.299	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		A	92054360	C	A	92054360	3	1	444	1	0	0	0	0	1	0	0	0	2693	710	25	4	343	4	CATSPERB	14	92054360	Missense_Mutation	SNP	C	TCGA-BP-5196-01A-01D-1429-08		92054360	15295180	46	24295											
SCAPER	49855	broad.mit.edu;hgsc.bcm.edu	37	15	76994175	76994175	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr15:76994175A>G	ENST00000563290.1	-	20	2527	c.2432T>C	c.(2431-2433)gTt>gCt	p.V811A	SCAPER_ENST00000324767.7_Missense_Mutation_p.V811A|SCAPER_ENST00000538941.2_Missense_Mutation_p.V565A			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	811						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.V811A(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCTCCCTTTAACATGGCTAAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											81	79	79					15																	76994175		1852	4119	5971	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2432T>C	15.37:g.76994175A>G	ENSP00000454973:p.Val811Ala		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.350152	0.41599	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.22134	1.97;1.97	5.49	5.49	0.81192	Zinc finger, C2H2-like (1);	0.095716	0.64402	D	0.000001	T	0.12689	0.0308	N	0.08118	0	0.33113	D	0.540843	B;B	0.12630	0.001;0.006	B;B	0.18263	0.021;0.012	T	0.11179	-1.0598	10	0.27785	T	0.31	.	15.5999	0.76616	1.0:0.0:0.0:0.0	.	810;565	Q9BY12;F5H7X8	SCAPE_HUMAN;.	A	811;565;833	ENSP00000326924:V811A;ENSP00000442190:V565A	ENSP00000303560:V833A	V	-	2	0	SCAPER	74781230	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	5.669000	0.68081	2.099000	0.63709	0.455000	0.32223	GTT		0.353	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		G	76994175	A	G	76994175	3	3	444	1	0	0	0	0	1	0	0	0	13884	43	2	3	1822	3	SCAPER	15	76994175	Missense_Mutation	SNP	A	TCGA-BP-5196-01A-01D-1429-08		76994175	25537217	47	24296											
DOK4	55715	broad.mit.edu;hgsc.bcm.edu	37	16	57509863	57509863	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr16:57509863G>C	ENST00000340099.4	-	3	444	c.73C>G	c.(73-75)Cgg>Ggg	p.R25G	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Missense_Mutation_p.R25G|DOK4_ENST00000566936.1_Missense_Mutation_p.R25G	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	25	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.R25G(1)		kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CAGCACCTCCGGTAGATCTGT	0.667																																																1	Substitution - Missense(1)	kidney(1)											30	33	32					16																	57509863		2198	4300	6498	SO:0001583	missense	55715			BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"Pleckstrin homology (PH) domain containing"	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.73C>G	16.37:g.57509863G>C	ENSP00000344277:p.Arg25Gly		O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	37	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530000	0.45073	.	.	ENSG00000125170	ENST00000340099	T	0.76316	-1.01	5.29	4.32	0.51571	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.075607	0.51477	D	0.000088	T	0.73410	0.3583	L	0.53249	1.67	0.50467	D	0.99987	B;B	0.18166	0.008;0.026	B;B	0.21917	0.037;0.015	T	0.71846	-0.4469	10	0.59425	D	0.04	-36.3389	12.4143	0.55483	0.0:0.0:0.8117:0.1883	.	25;25	Q8TEW6;B2RD67	DOK4_HUMAN;.	G	25	ENSP00000344277:R25G	ENSP00000344277:R25G	R	-	1	2	DOK4	56067364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.366000	0.59492	1.398000	0.46701	0.650000	0.86243	CGG		0.667	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			C	57509863	G	C	57509863	3	2	444	1	0	0	0	0	1	0	0	0	4701	1115	39	4	935	4	DOK4	16	57509863	Missense_Mutation	SNP	G	TCGA-BP-5196-01A-01D-1429-08		57509863	32844890	48	24297											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11738174	11738174	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr17:11738174G>C	ENST00000262442.4	+	49	9534	c.9466G>C	c.(9466-9468)Gca>Cca	p.A3156P	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3156P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3156	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A3156P(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCTGAGCCAGCACTCACAGC	0.572																																																1	Substitution - Missense(1)	kidney(1)											132	93	106					17																	11738174		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9466G>C	17.37:g.11738174G>C	ENSP00000262442:p.Ala3156Pro		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154642	0.38021	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80738	-1.41;-1.41	5.17	3.1	0.35709	Dynein heavy chain, coiled coil stalk (1);	0.260842	0.36665	N	0.002462	D	0.92890	0.7738	H	0.98833	4.345	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	D	0.93614	0.6941	10	0.87932	D	0	.	10.1826	0.42977	0.0709:0.0:0.7934:0.1357	.	3156	Q9NYC9	DYH9_HUMAN	P	3156;3156;1738	ENSP00000262442:A3156P;ENSP00000414874:A3156P	ENSP00000262442:A3156P	A	+	1	0	DNAH9	11678899	1.000000	0.71417	0.057000	0.19452	0.030000	0.12068	5.185000	0.65076	1.412000	0.46977	-0.140000	0.14226	GCA		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		C	11738174	G	C	11738174	3	2	444	1	0	0	0	0	1	0	0	0	4610	971	34	4	9660	4	DNAH9	17	11738174	Missense_Mutation	SNP	G	TCGA-BP-5196-01A-01D-1429-08		11738174	69457036	49	24298											
RIOK3	8780	broad.mit.edu;hgsc.bcm.edu	37	18	21056977	21056977	+	Missense_Mutation	SNP	G	G	A	rs111330062	byFrequency	TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr18:21056977G>A	ENST00000339486.3	+	10	1798	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	RIOK3_ENST00000577501.1_Missense_Mutation_p.R394Q|RIOK3_ENST00000581585.1_Missense_Mutation_p.R378Q	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	394	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R394Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAGTTGATGCGGCAGTTATAT	0.373																																																1	Substitution - Missense(1)	kidney(1)						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	108	91	96		1181	4.8	1	18	dbSNP_132	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIOK3	NM_003831.3	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	394/520	21056977	2,13004	2203	4300	6503	SO:0001583	missense	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1181G>A	18.37:g.21056977G>A	ENSP00000341874:p.Arg394Gln		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954217	0.34471	2.27E-4	1.16E-4	ENSG00000101782	ENST00000339486	T	0.07444	3.19	5.98	4.83	0.62350	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.109289	0.64402	N	0.000005	T	0.05090	0.0136	N	0.13235	0.315	0.28043	N	0.933659	B;B;B;B	0.11235	0.004;0.0;0.0;0.0	B;B;B;B	0.17722	0.019;0.001;0.0;0.001	T	0.37174	-0.9717	10	0.10111	T	0.7	-25.8201	11.4887	0.50369	0.9291:0.0:0.0709:0.0	.	138;378;394;394	E7ESK5;B4E1Q4;O14730-2;O14730	.;.;.;RIOK3_HUMAN	Q	394	ENSP00000341874:R394Q	ENSP00000341874:R394Q	R	+	2	0	RIOK3	19310975	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.134000	0.71689	1.104000	0.41587	-0.322000	0.08575	CGG		0.373	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		A	21056977	G	A	21056977	3	1	444	1	0	0	0	0	1	0	0	0	13385	1116	39	1	1219	1	RIOK3	18	21056977	Missense_Mutation	SNP	G	TCGA-BP-5196-01A-01D-1429-08		21056977	57020271	50	24299											
ATCAY	85300	broad.mit.edu;hgsc.bcm.edu	37	19	3907733	3907733	+	Splice_Site	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr19:3907733C>T	ENST00000450849.2	+	5	827	c.360C>T	c.(358-360)gaC>gaT	p.D120D	ATCAY_ENST00000301260.6_Splice_Site_p.D120D|ATCAY_ENST00000600960.1_Splice_Site_p.D120D|ATCAY_ENST00000398448.3_Splice_Site_p.D126D	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	120	Required for interaction with KLC1. {ECO:0000250}.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.D120D(2)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TGCTTCTAGACGACACCCCCG	0.677																																																2	Substitution - coding silent(2)	kidney(2)																																								SO:0001630	splice_region_variant	85300				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.359-1C>T	19.37:g.3907733C>T			Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	37	CCDS45923.1																																																																																				0.677	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		Silent	T	3907733	C	T	3907733	5	4	444	1	0	0	0	0	0	0	1	0	1077	550	19	1	374	1	ATCAY	19	3907733	Splice_Site	SNP	C	TCGA-BP-5196-01A-01D-1429-08		3907733	55221250	51	24300											
ZNF155	7711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44501334	44501334	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr19:44501334A>G	ENST00000270014.2	+	5	1453	c.1325A>G	c.(1324-1326)aAt>aGt	p.N442S	RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.N442S|ZNF155_ENST00000407951.2_Missense_Mutation_p.N453S|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	442					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N442S(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				ACTAAGTTTAATCTTGACTTG	0.418																																					NSCLC(61;554 1277 20909 42067 42312)											1	Substitution - Missense(1)	kidney(1)											80	84	83					19																	44501334		2200	4300	6500	SO:0001583	missense	7711			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1325A>G	19.37:g.44501334A>G	ENSP00000270014:p.Asn442Ser		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	A	0.410	-0.913864	0.02415	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.07216	3.21;3.21	2.59	1.49	0.22878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.12663	0.25	0.09310	N	1	B;B	0.29590	0.25;0.25	B;B	0.30316	0.114;0.079	T	0.46162	-0.9211	9	0.08837	T	0.75	.	6.9731	0.24660	0.8738:0.0:0.1262:0.0	.	453;442	B4DM95;Q12901	.;ZN155_HUMAN	S	453;442	ENSP00000385163:N453S;ENSP00000270014:N442S	ENSP00000270014:N442S	N	+	2	0	ZNF155	49193174	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.572000	0.05881	0.180000	0.19960	0.379000	0.24179	AAT		0.418	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		G	44501334	A	G	44501334	3	3	444	1	0	0	0	0	1	0	0	0	17741	101	4	3	1339	3	ZNF155	19	44501334	Missense_Mutation	SNP	A	TCGA-BP-5196-01A-01D-1429-08	40593601	44501334	14627649	52	24301											
ZNF814	730051	broad.mit.edu	37	19	58385927	58385927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr19:58385927delG	ENST00000435989.2	-	3	1065	c.831delC	c.(829-831)tccfs	p.S277fs	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	277					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAAGGATTTCCCAC	0.363																																																0													10	11	11					19																	58385927		679	1526	2205	SO:0001589	frameshift_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.831delC	19.37:g.58385927delG	ENSP00000410545:p.Ser277fs		A6NF35	Frame_Shift_Del	DEL	ENST00000435989.2	37	CCDS46212.1																																																																																				0.363	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		-	58385927	G	-	58385927	7	5	444	1	0	1	0	1	0	0	0	0	18181	987	35	0	1740	0	ZNF814	19	58385927	Frame_Shift_Del	DEL	G	TCGA-BP-5196-01A-01D-1429-08	13884593	58385927	743056	53	24302											
PRPF6	57473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62642793	62642793	+	Intron	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr20:62642793C>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Silent_p.I487I|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I487I(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGAAGATCATCGACCGAGCCA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											86	69	75					20																	62642793		2203	4300	6503	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+37264G>A	20.37:g.62642793C>T			Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																				0.587	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		T	62642793	C	T	62642793	1	4	444	0	1	0	0	0	0	0	0	0	12579	874	31	1		1	PRPF6	20	62642793	Intron	SNP	C	TCGA-BP-5196-01A-01D-1429-08		62642793	382727	54	24303											
MCART6	401612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	103349894	103349894	+	Missense_Mutation	SNP	G	G	A	rs370922777		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chrX:103349894G>A	ENST00000357421.4	-	2	227	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	16					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.T16M(1)									CTCTGCTCGCGTCCTGTGCTG	0.522																																																1	Substitution - Missense(1)	kidney(1)							MET/THR	1,3832		0,1,1631,569	52	49	50		47	1.7	0	X		50	0,6728		0,0,2428,1872	no	missense	MCART6	NM_001012755.3	81	0,1,4059,2441	AA,AG,GG,G		0.0,0.0261,0.0095	benign	16/308	103349894	1,10560	2201	4300	6501	SO:0001583	missense	0				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"Solute carriers"	31894	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 6"	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.47C>T	X.37:g.103349894G>A	ENSP00000361681:p.Thr16Met		B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	g	0.445	-0.896553	0.02472	2.61E-4	0.0	ENSG00000176274	ENST00000357421	T	0.74842	-0.88	3.49	1.71	0.24356	.	0.910551	0.09193	N	0.835686	T	0.53449	0.1797	N	0.19112	0.55	0.09310	N	1	B	0.33904	0.431	B	0.24006	0.05	T	0.41378	-0.9512	10	0.45353	T	0.12	-11.9024	5.2124	0.15325	0.2821:0.0:0.7179:0.0	.	16	Q5H9E4	MCAR6_HUMAN	M	16	ENSP00000361681:T16M	ENSP00000361681:T16M	T	-	2	0	MCART6	103236550	0.001000	0.12720	0.010000	0.14722	0.045000	0.14185	-0.095000	0.11077	0.330000	0.23485	-0.312000	0.09012	ACG		0.522	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		A	103349894	G	A	103349894	3	1	444	1	0	0	0	0	1	0	0	0	9373	1145	40	1	880	1	MCART6	23	103349894	Missense_Mutation	SNP	G	TCGA-BP-5196-01A-01D-1429-08		103349894	51920666	55	24304											
CNR2	1269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24201824	24201824	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr1:24201824T>A	ENST00000374472.4	-	2	445	c.284A>T	c.(283-285)cAt>cTt	p.H95L	CNR2_ENST00000536471.1_Missense_Mutation_p.H95L	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	95					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.H95L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	ATGGAAAACATGGAAATTCAC	0.552																																																2	Substitution - Missense(2)	kidney(2)											89	91	90					1																	24201824		2203	4300	6503	SO:0001583	missense	1269			X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.284A>T	1.37:g.24201824T>A	ENSP00000363596:p.His95Leu		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	CCDS245.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521348	0.64747	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.29655	1.56;1.56	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47598	-0.9105	10	0.62326	D	0.03	.	16.1262	0.81397	0.0:0.0:0.0:1.0	.	95	P34972	CNR2_HUMAN	L	95	ENSP00000363596:H95L;ENSP00000442830:H95L	ENSP00000363596:H95L	H	-	2	0	CNR2	24074411	1.000000	0.71417	0.990000	0.47175	0.244000	0.25665	8.033000	0.88852	2.203000	0.70933	0.459000	0.35465	CAT		0.552	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		A	24201824	T	A	24201824	3	1	445	1	0	0	0	0	1	0	0	0	3634	1464	51	5	802	5	CNR2	1	24201824	Missense_Mutation	SNP	T	TCGA-BP-5198-01A-01D-1429-08		24201824	225048797	1	24305											
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39908131	39908131	+	Silent	SNP	C	C	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr1:39908131C>A	ENST00000372915.3	+	76	18780	c.18693C>A	c.(18691-18693)gcC>gcA	p.A6231A	MACF1_ENST00000317713.7_Silent_p.A4273A|MACF1_ENST00000567887.1_Silent_p.A6369A|MACF1_ENST00000361689.2_Silent_p.A4273A|MACF1_ENST00000564288.1_Silent_p.A6332A|MACF1_ENST00000545844.1_Silent_p.A4273A|MACF1_ENST00000539005.1_Silent_p.A4143A|MACF1_ENST00000289893.4_Silent_p.A4775A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6231					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.A4273A(1)|p.A4775A(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCAGCATGCCTTAGAGGAAC	0.443																																																2	Substitution - coding silent(2)	kidney(2)											62	63	63					1																	39908131		2203	4300	6503	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18693C>A	1.37:g.39908131C>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	8.647	0.897413	0.17686	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.03	3.99	0.46301	.	.	.	.	.	T	0.54967	0.1891	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52764	-0.8532	4	.	.	.	.	5.913	0.19039	0.1196:0.6422:0.1052:0.133	.	.	.	.	I	3277	.	.	L	+	1	0	MACF1	39680718	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.693000	0.25497	1.558000	0.49541	0.655000	0.94253	CTT		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39908131	C	A	39908131	2	1	445	1	0	0	0	0	0	0	0	1	9146	668	24	4		4	MACF1	1	39908131	Silent	SNP	C	TCGA-BP-5198-01A-01D-1429-08	15706307	39908131	209342490	2	24306											
HSPA6	3310	hgsc.bcm.edu	37	1	161495527	161495527	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr1:161495527A>T	ENST00000309758.4	+	1	1492	c.1079A>T	c.(1078-1080)gAg>gTg	p.E360V	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	360					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AACGGCAAGGAGCTGAACAAG	0.577																																																0													17	17	17					1																	161495527		2202	4293	6495	SO:0001583	missense	3310				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1079A>T	1.37:g.161495527A>T	ENSP00000310219:p.Glu360Val		Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	13.03	2.116496	0.37339	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01197	5.19	3.23	2.09	0.27110	.	0.000000	0.39341	U	0.001397	T	0.02012	0.0063	M	0.89095	3.005	0.41973	D	0.990767	P	0.43094	0.799	P	0.52454	0.699	T	0.32188	-0.9916	10	0.87932	D	0	.	6.2172	0.20661	0.8702:0.0:0.1298:0.0	.	360	P17066	HSP76_HUMAN	V	360;336	ENSP00000310219:E360V	ENSP00000310219:E360V	E	+	2	0	HSPA6	159762151	1.000000	0.71417	0.938000	0.37757	0.249000	0.25844	6.269000	0.72558	0.334000	0.23590	0.443000	0.29094	GAG		0.577	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		T	161495527	A	T	161495527	3	4	445	1	0	0	0	0	1	0	0	0	7417	304	11	5	1081	5	HSPA6	1	161495527	Missense_Mutation	SNP	A	TCGA-BP-5198-01A-01D-1429-08	121587396	161495527	87755094	3	24307											
LAMC2	3918	broad.mit.edu;hgsc.bcm.edu	37	1	183195848	183195848	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr1:183195848A>C	ENST00000264144.4	+	9	1147	c.1082A>C	c.(1081-1083)gAc>gCc	p.D361A	LAMC2_ENST00000493293.1_Missense_Mutation_p.D361A	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	361	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.D361A(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGGTACATTGACAATGTGACC	0.478																																																1	Substitution - Missense(1)	kidney(1)											113	114	114					1																	183195848		2203	4300	6503	SO:0001583	missense	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1082A>C	1.37:g.183195848A>C	ENSP00000264144:p.Asp361Ala		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049117	0.75846	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.36699	1.24;1.24	5.39	5.39	0.77823	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	0.147928	0.47093	D	0.000250	T	0.54919	0.1888	M	0.65975	2.015	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.983;0.999	D;P;D	0.69824	0.966;0.867;0.922	T	0.57335	-0.7829	10	0.56958	D	0.05	.	10.6007	0.45365	0.9247:0.0:0.0753:0.0	.	361;361;361	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	A	361	ENSP00000432063:D361A;ENSP00000264144:D361A	ENSP00000264144:D361A	D	+	2	0	LAMC2	181462471	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	3.856000	0.55964	2.032000	0.59987	0.448000	0.29417	GAC		0.478	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		C	183195848	A	C	183195848	3	2	445	1	0	0	0	0	1	0	0	0	8617	275	10	5	1116	5	LAMC2	1	183195848	Missense_Mutation	SNP	A	TCGA-BP-5198-01A-01D-1429-08	21700321	183195848	66054773	4	24308											
WDR64	128025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	241886621	241886621	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr1:241886621G>T	ENST00000366552.2	+	9	1254	c.1047G>T	c.(1045-1047)ttG>ttT	p.L349F	WDR64_ENST00000437684.2_Missense_Mutation_p.L349F	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	349								p.L349F(1)|p.L69F(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TCATCCGGTTGTGGCACCCCA	0.443																																																2	Substitution - Missense(2)	kidney(2)											111	103	106					1																	241886621		2203	4300	6503	SO:0001583	missense	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1047G>T	1.37:g.241886621G>T	ENSP00000355510:p.Leu349Phe		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		.	.	.	.	.	.	.	.	.	.	G	15.77	2.930054	0.52759	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.47528	1.34;0.84;4.75	4.7	3.51	0.40186	.	0.164522	0.27961	N	0.017146	T	0.60919	0.2306	M	0.62723	1.935	0.31950	N	0.609793	D	0.76494	0.999	D	0.91635	0.999	T	0.65841	-0.6070	10	0.66056	D	0.02	-16.4526	8.2345	0.31618	0.1572:0.0:0.8428:0.0	.	69	D1MPS4	.	F	349;349;120	ENSP00000355510:L349F;ENSP00000402446:L349F;ENSP00000406656:L120F	ENSP00000355510:L349F	L	+	3	2	WDR64	239953244	1.000000	0.71417	0.992000	0.48379	0.692000	0.40212	1.110000	0.31147	2.308000	0.77769	0.563000	0.77884	TTG		0.443	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		T	241886621	G	T	241886621	3	4	445	1	0	0	0	0	1	0	0	0	17320	1368	48	4	1081	4	WDR64	1	241886621	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08	58690773	241886621	7364000	5	24309											
LRPPRC	10128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44145201	44145201	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr2:44145201T>A	ENST00000260665.7	-	29	3168	c.3111A>T	c.(3109-3111)aaA>aaT	p.K1037N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1037					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.K1037N(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCAATATATCTTTCTGGAAAT	0.413																																																1	Substitution - Missense(1)	kidney(1)											98	95	96					2																	44145201		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3111A>T	2.37:g.44145201T>A	ENSP00000260665:p.Lys1037Asn		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489903	0.26686	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.57436	0.4	5.62	1.88	0.25563	.	0.429836	0.25570	N	0.029779	T	0.38532	0.1044	L	0.47716	1.5	0.09310	N	0.999999	B;B	0.14012	0.002;0.009	B;B	0.15052	0.004;0.012	T	0.30995	-0.9959	10	0.49607	T	0.09	-8.5132	2.7607	0.05306	0.1456:0.0811:0.1522:0.6212	.	937;1037	F5H4J6;P42704	.;LPPRC_HUMAN	N	937;1037	ENSP00000260665:K1037N	ENSP00000260665:K1037N	K	-	3	2	LRPPRC	43998705	0.009000	0.17119	0.012000	0.15200	0.004000	0.04260	-0.152000	0.10159	0.080000	0.16959	-0.444000	0.05651	AAA		0.413	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		A	44145201	T	A	44145201	3	1	445	1	0	0	0	0	1	0	0	0	8967	1606	56	5	1113	5	LRPPRC	2	44145201	Missense_Mutation	SNP	T	TCGA-BP-5198-01A-01D-1429-08		44145201	199054172	6	24310											
NPHP1	4867	broad.mit.edu;hgsc.bcm.edu	37	2	110926096	110926096	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr2:110926096G>T	ENST00000393272.3	-	6	654	c.557C>A	c.(556-558)cCt>cAt	p.P186H	NPHP1_ENST00000355301.4_Missense_Mutation_p.P124H|NPHP1_ENST00000417665.1_Missense_Mutation_p.P186H|NPHP1_ENST00000316534.4_Missense_Mutation_p.P186H|NPHP1_ENST00000445609.2_Missense_Mutation_p.P186H	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	186	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.P186H(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CCAACCATCAGGTTTTTTTTC	0.343																																																1	Substitution - Missense(1)	kidney(1)											135	139	138					2																	110926096		2203	4300	6503	SO:0001583	missense	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.557C>A	2.37:g.110926096G>T	ENSP00000376953:p.Pro186His		O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362733	0.61403	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.09	5.09	0.68999	Src homology-3 domain (4);	0.549745	0.20217	N	0.096779	T	0.68997	0.3062	L	0.28014	0.82	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.998;0.989;0.999;0.994;1.0	P;D;P;D;P;D	0.70935	0.823;0.937;0.893;0.956;0.73;0.971	T	0.69964	-0.5002	10	0.56958	D	0.05	-7.2232	9.5942	0.39565	0.096:0.0:0.904:0.0	.	186;186;124;186;186;186	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	H	186;186;186;124;186	ENSP00000313169:P186H;ENSP00000389879:P186H;ENSP00000376953:P186H;ENSP00000347452:P124H;ENSP00000402176:P186H	ENSP00000313169:P186H	P	-	2	0	NPHP1	110283385	1.000000	0.71417	0.493000	0.27502	0.977000	0.68977	4.008000	0.57103	2.362000	0.80069	0.462000	0.41574	CCT		0.343	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		T	110926096	G	T	110926096	3	4	445	1	0	0	0	0	1	0	0	0	10581	1000	35	4	1704	4	NPHP1	2	110926096	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08	66780895	110926096	132273277	7	24311											
ARHGAP15	55843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	143913197	143913197	+	Silent	SNP	C	C	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr2:143913197C>T	ENST00000295095.6	+	2	305	c.138C>T	c.(136-138)ctC>ctT	p.L46L	ARHGAP15_ENST00000409869.1_Silent_p.L46L	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	46					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.L46L(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CCATGATCCTCACCGATGTCG	0.428																																																1	Substitution - coding silent(1)	kidney(1)											108	96	100					2																	143913197		2203	4300	6503	SO:0001819	synonymous_variant	55843			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.138C>T	2.37:g.143913197C>T			Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	CCDS2184.1																																																																																				0.428	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		T	143913197	C	T	143913197	2	4	445	1	0	0	0	0	0	0	0	1	866	813	29	2		2	ARHGAP15	2	143913197	Silent	SNP	C	TCGA-BP-5198-01A-01D-1429-08	32987101	143913197	99286176	8	24312											
KCNJ3	3760	broad.mit.edu	37	2	155555946	155555946	+	Missense_Mutation	SNP	A	A	C	rs200105020		TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr2:155555946A>C	ENST00000295101.2	+	1	1136	c.659A>C	c.(658-660)aAc>aCc	p.N220T	KCNJ3_ENST00000544049.1_Missense_Mutation_p.N220T|AC061961.2_ENST00000443901.1_RNA	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	220					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.N220T(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AACCTGCGCAACAGCCACATG	0.632																																																1	Substitution - Missense(1)	kidney(1)											32	28	30					2																	155555946		2203	4300	6503	SO:0001583	missense	3760			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.659A>C	2.37:g.155555946A>C	ENSP00000295101:p.Asn220Thr		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.836579	0.91117	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.94000	-2.89;-3.33	5.61	5.61	0.85477	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.95683	0.8596	M	0.72353	2.195	0.80722	D	1	P;P	0.51537	0.474;0.946	B;P	0.60886	0.383;0.88	D	0.95928	0.8936	10	0.66056	D	0.02	.	14.6234	0.68602	1.0:0.0:0.0:0.0	.	220;220	B4DEW7;P48549	.;IRK3_HUMAN	T	220	ENSP00000295101:N220T;ENSP00000438410:N220T	ENSP00000295101:N220T	N	+	2	0	KCNJ3	155264192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.451000	0.80668	2.135000	0.66039	0.459000	0.35465	AAC		0.632	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		C	155555946	A	C	155555946	3	2	445	1	0	0	0	0	1	0	0	0	8054	43	2	5	661	5	KCNJ3	2	155555946	Missense_Mutation	SNP	A	TCGA-BP-5198-01A-01D-1429-08	11642749	155555946	87643427	9	24313											
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	168099752	168099752	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr2:168099752C>A	ENST00000409195.1	+	9	1939	c.1850C>A	c.(1849-1851)aCc>aAc	p.T617N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T617N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T395N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	442					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.T617N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGAAATATACCACATGGATG	0.438																																																1	Substitution - Missense(1)	kidney(1)											89	92	91					2																	168099752		1962	4131	6093	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1850C>A	2.37:g.168099752C>A	ENSP00000386840:p.Thr617Asn		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523977	0.85600	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.35048	1.33;1.33;1.33	5.54	5.54	0.83059	.	0.108151	0.64402	D	0.000007	T	0.50871	0.1641	L	0.29908	0.895	0.58432	D	0.999998	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76071	0.974;0.956;0.987	T	0.52155	-0.8613	10	0.66056	D	0.02	-10.1066	19.0979	0.93260	0.0:1.0:0.0:0.0	.	442;442;395	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	617;617;395	ENSP00000386840:T617N;ENSP00000295237:T617N;ENSP00000387255:T395N	ENSP00000295237:T617N	T	+	2	0	XIRP2	167807998	0.977000	0.34250	0.993000	0.49108	0.941000	0.58515	3.316000	0.51960	2.615000	0.88500	0.655000	0.94253	ACC		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168099752	C	A	168099752	3	1	445	1	0	0	0	0	1	0	0	0	17435	507	18	4	1880	4	XIRP2	2	168099752	Missense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	12543806	168099752	75099621	10	24314											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179634604	179634604	+	Nonsense_Mutation	SNP	C	C	A	rs143767300		TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr2:179634604C>A	ENST00000591111.1	-	37	8928	c.8704G>T	c.(8704-8706)Gag>Tag	p.E2902*	TTN_ENST00000342175.6_Nonsense_Mutation_p.E2856*|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E2902*|TTN_ENST00000589042.1_Nonsense_Mutation_p.E2902*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E2856*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E2856*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.E2902*			Q8WZ42	TITIN_HUMAN	titin	13232	Ig-like 16.				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)	p.E2902*(3)|p.E2856*(3)		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)			ACCTCACACTCAAAAGAGGCA	0.388																																																6	Substitution - Nonsense(6)	kidney(6)											110	110	110					2																	179634604		2203	4300	6503	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8704G>T	2.37:g.179634604C>A	ENSP00000465570:p.Glu2902*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	51	17.727153	0.99892	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9066	0.79436	0.0:0.754:0.246:0.0	.	.	.	.	X	2902;2856;2856;2856;2856;2902	.	ENSP00000340554:E2856X	E	-	1	0	TTN	179342849	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.127000	0.50484	2.882000	0.98803	0.655000	0.94253	GAG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179634604	C	A	179634604	4	1	445	1	0	0	0	0	0	1	0	0	16740	835	29	4	102588	4	TTN	2	179634604	Nonsense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	11534852	179634604	63564769	11	24315											
BMPR2	659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	203407042	203407042	+	Missense_Mutation	SNP	G	G	T	rs146957466		TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr2:203407042G>T	ENST00000374580.4	+	10	1824	c.1285G>T	c.(1285-1287)Gta>Tta	p.V429L	BMPR2_ENST00000374574.2_Missense_Mutation_p.V429L	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	429	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.V429L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGGGGAATCCGTACCAGAGTA	0.393																																																1	Substitution - Missense(1)	kidney(1)											62	64	64					2																	203407042		2203	4299	6502	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1285G>T	2.37:g.203407042G>T	ENSP00000363708:p.Val429Leu		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725628	0.48833	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.89552	-2.53;-2.42	5.17	4.28	0.50868	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.111775	0.64402	D	0.000011	D	0.87716	0.6247	L	0.43701	1.375	0.42829	D	0.994017	P;P	0.44690	0.679;0.841	B;P	0.44673	0.25;0.457	D	0.87118	0.2189	10	0.72032	D	0.01	.	16.7798	0.85560	0.0697:0.0:0.9303:0.0	.	429;429	Q13161;Q13873	.;BMPR2_HUMAN	L	429	ENSP00000363708:V429L;ENSP00000363702:V429L	ENSP00000363702:V429L	V	+	1	0	BMPR2	203115287	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.840000	0.75369	0.579000	0.29504	-1.119000	0.02030	GTA		0.393	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		T	203407042	G	T	203407042	3	4	445	1	0	0	0	0	1	0	0	0	1471	1145	40	4	1323	4	BMPR2	2	203407042	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08	23772438	203407042	39792331	12	24316											
GRM7	2917	broad.mit.edu;ucsc.edu	37	3	6903262	6903262	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr3:6903262A>C	ENST00000357716.4	+	1	461	c.187A>C	c.(187-189)Agc>Cgc	p.S63R	GRM7_ENST00000402647.2_Missense_Mutation_p.S63R|GRM7_ENST00000403881.1_Missense_Mutation_p.S63R|GRM7_ENST00000486284.1_Missense_Mutation_p.S63R|GRM7_ENST00000389336.4_Missense_Mutation_p.S63R	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	63					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.S63R(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CAAGGGTCCCAGCGGAGTGCC	0.662																																																1	Substitution - Missense(1)	kidney(1)											21	22	21					3																	6903262		2202	4299	6501	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.187A>C	3.37:g.6903262A>C	ENSP00000350348:p.Ser63Arg		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	A	5.528	0.282287	0.10458	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.38	5.38	0.77491	.	0.320653	0.30134	N	0.010340	T	0.51584	0.1683	N	0.16790	0.44	0.34484	D	0.704169	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.56860	-0.7909	10	0.19590	T	0.45	.	10.1121	0.42568	0.7227:0.2772:0.0:0.0	.	63;63;63	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	R	63	ENSP00000350348:S63R;ENSP00000417536:S63R;ENSP00000373987:S63R;ENSP00000385664:S63R;ENSP00000384585:S63R	ENSP00000350348:S63R	S	+	1	0	GRM7	6878262	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.329000	0.19698	2.026000	0.59711	0.455000	0.32223	AGC		0.662	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		C	6903262	A	C	6903262	3	2	445	1	0	0	0	0	1	0	0	0	6804	188	7	5	189	5	GRM7	3	6903262	Missense_Mutation	SNP	A	TCGA-BP-5198-01A-01D-1429-08		6903262	191119168	13	24317											
MTMR14	64419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9724925	9724925	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr3:9724925G>A	ENST00000296003.4	+	10	1083	c.961G>A	c.(961-963)Gat>Aat	p.D321N	MTMR14_ENST00000353332.5_Missense_Mutation_p.D321N|MTMR14_ENST00000420925.1_Missense_Mutation_p.D75N|MTMR14_ENST00000351233.5_Missense_Mutation_p.D321N	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	321					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.D321N(1)		breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					AGTTAACAGTGATGGTGAGTC	0.478																																																1	Substitution - Missense(1)	kidney(1)											82	85	84					3																	9724925		1951	4156	6107	SO:0001583	missense	64419			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.961G>A	3.37:g.9724925G>A	ENSP00000296003:p.Asp321Asn		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112955	0.94339	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233;ENST00000419048;ENST00000431250	D;D;D;D;D	0.92699	-2.62;-3.09;-2.62;-2.62;-2.62	5.72	5.72	0.89469	.	0.088300	0.85682	D	0.000000	D	0.93416	0.7900	L	0.59436	1.845	0.80722	D	1	B;P;B;B	0.51791	0.06;0.948;0.303;0.038	B;P;B;B	0.50490	0.094;0.642;0.111;0.01	D	0.93671	0.6990	10	0.72032	D	0.01	3.3056	19.8829	0.96904	0.0:0.0:1.0:0.0	.	75;321;321;321	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	N	321;75;321;321;321;93	ENSP00000323462:D321N;ENSP00000401993:D75N;ENSP00000296003:D321N;ENSP00000334070:D321N;ENSP00000388746:D93N	ENSP00000296003:D321N	D	+	1	0	MTMR14	9699925	1.000000	0.71417	0.922000	0.36590	0.648000	0.38561	8.564000	0.90726	2.717000	0.92951	0.650000	0.86243	GAT		0.478	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		A	9724925	G	A	9724925	3	1	445	1	0	0	0	0	1	0	0	0	9944	1290	45	2	999	2	MTMR14	3	9724925	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08	2821663	9724925	188297505	14	24318											
VHL	7428	hgsc.bcm.edu	37	3	10191489	10191492	+	Frame_Shift_Del	DEL	GATG	GATG	-	rs397516444|rs5030622		TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	GATG	GATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr3:10191489_10191492delGATG	ENST00000256474.2	+	3	1322_1325	c.482_485delGATG	c.(481-486)cgatgcfs	p.RC161fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.RC120fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	161	Interaction with Elongin BC complex.		R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040}.|R -> Q (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.C162Y(5)|p.R161P(4)|p.C162R(4)|p.C162F(3)|p.C162fs*12(2)|p.R161del(1)|p.R161fs*12(1)|p.E160fs*9(1)|p.?fs(1)|p.C162fs*9(1)|p.L158fs*6(1)|p.R161Q(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGAAAGAGCGATGCCTCCAGGTT	0.505		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	25	Substitution - Missense(17)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Deletion - In frame(1)	kidney(24)|adrenal_gland(1)	GRCh37	CI011898|CM951290|CM951291|CM951292|CM951294|CM961431	VHL	I|M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.482_485delGATG	3.37:g.10191489_10191492delGATG	ENSP00000256474:p.Arg161fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.505	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191492	GATG	-	10191489	7	5	445	1	0	1	0	1	0	0	0	0	17167	1058	37	0	492	0	VHL	3	10191489	Frame_Shift_Del	DEL	GATG	TCGA-BP-5198-01A-01D-1429-08	466564	10191489	187830941	15	24319											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47084168	47084175	+	Frame_Shift_Del	DEL	TTATTTGT	TTATTTGT	-	rs114833216		TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	TTATTTGT	TTATTTGT	TTATTTGT	-	TTATTTGT	TTATTTGT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr3:47084168_47084175delTTATTTGT	ENST00000409792.3	-	17	7156_7163	c.7114_7121delACAAATAA	c.(7114-7122)acaaataatfs	p.TNN2372fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2372					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCCAAGAGATTATTTGTCACAACCATT	0.413			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7114_7121delACAAATAA	3.37:g.47084168_47084175delTTATTTGT	ENSP00000386759:p.Thr2372fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																				0.413	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47084175	TTATTTGT	-	47084168	7	5	445	1	0	1	0	1	0	0	0	0	14137	1493	52	0	593	0	SETD2	3	47084168	Frame_Shift_Del	DEL	TTATTTGT	TCGA-BP-5198-01A-01D-1429-08	36892679	47084168	150938262	16	24320											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52623121	52623122	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	AT	AT	AT	-	AT	AT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr3:52623121_52623122delAT	ENST00000296302.7	-	18	2930_2931	c.2929_2930delAT	c.(2929-2931)atcfs	p.I977fs	PBRM1_ENST00000337303.4_Frame_Shift_Del_p.I977fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.I977fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.I992fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.I992fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.I977fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.I977fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.I945fs			Q86U86	PB1_HUMAN	polybromo 1	977	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATACAGACGATATGTGGTTGT	0.426			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2929_2930delAT	3.37:g.52623123_52623124delAT	ENSP00000296302:p.Ile977fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.426	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52623122	AT	-	52623121	7	5	445	1	0	1	0	1	0	0	0	0	11493	333	12	0	2022	0	PBRM1	3	52623121	Frame_Shift_Del	DEL	AT	TCGA-BP-5198-01A-01D-1429-08	5538953	52623121	145399309	17	24321											
PVRL3	25945	broad.mit.edu	37	3	110837556	110837556	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr3:110837556A>T	ENST00000485303.1	+	3	831	c.556A>T	c.(556-558)Aat>Tat	p.N186Y	PVRL3_ENST00000493615.1_Missense_Mutation_p.N163Y|PVRL3_ENST00000319792.3_Missense_Mutation_p.N186Y	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	186	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.N163Y(1)|p.N186Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGATGGAGGAAATGAAACAGT	0.378																																																2	Substitution - Missense(2)	kidney(2)											41	37	38					3																	110837556		2203	4300	6503	SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.556A>T	3.37:g.110837556A>T	ENSP00000418070:p.Asn186Tyr		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414618	0.83449	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.00626	6.13;6.13;6.13	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.092464	0.64402	D	0.000001	T	0.02848	0.0085	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.81914	0.995;0.979	T	0.53641	-0.8410	10	0.87932	D	0	.	13.7501	0.62901	1.0:0.0:0.0:0.0	.	163;186	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	Y	186;186;163	ENSP00000418070:N186Y;ENSP00000321514:N186Y;ENSP00000420579:N163Y	ENSP00000321514:N186Y	N	+	1	0	PVRL3	112320246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.133000	0.89605	2.140000	0.66376	0.528000	0.53228	AAT		0.378	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		T	110837556	A	T	110837556	3	4	445	1	0	0	0	0	1	0	0	0	12847	14	1	5	566	5	PVRL3	3	110837556	Missense_Mutation	SNP	A	TCGA-BP-5198-01A-01D-1429-08	58214435	110837556	87184874	18	24322											
PLOD2	5352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	145788846	145788846	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr3:145788846C>T	ENST00000360060.3	-	18	2218	c.2041G>A	c.(2041-2043)Gtg>Atg	p.V681M	RP11-274H2.3_ENST00000490375.1_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.V702M|RP11-274H2.2_ENST00000494745.2_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.V647M|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.V362M	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	681	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.V702M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTTCTCCCACGTTATTAAGT	0.343																																																1	Substitution - Missense(1)	kidney(1)											72	73	73					3																	145788846		2203	4300	6503	SO:0001583	missense	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.2041G>A	3.37:g.145788846C>T	ENSP00000353170:p.Val681Met		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490045	0.44249	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	D;T;T;T	0.90385	-2.66;-0.08;-0.07;-0.07	4.85	4.85	0.62838	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.269957	0.37437	N	0.002094	D	0.94404	0.8200	M	0.75615	2.305	0.40517	D	0.980793	D;D;D;D	0.71674	0.996;0.991;0.998;0.997	P;P;D;D	0.64042	0.763;0.803;0.921;0.909	D	0.93964	0.7243	10	0.35671	T	0.21	-15.3527	17.95	0.89050	0.0:1.0:0.0:0.0	.	647;681;702;362	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	M	362;702;681;647	ENSP00000419354:V362M;ENSP00000282903:V702M;ENSP00000353170:V681M;ENSP00000420094:V647M	ENSP00000282903:V702M	V	-	1	0	PLOD2	147271536	0.996000	0.38824	0.995000	0.50966	0.259000	0.26198	3.000000	0.49481	2.247000	0.74100	0.585000	0.79938	GTG		0.343	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		T	145788846	C	T	145788846	3	4	445	1	0	0	0	0	1	0	0	0	12104	536	19	1	180	1	PLOD2	3	145788846	Missense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	34951290	145788846	52233584	19	24323											
MYO10	4651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	16701663	16701663	+	Silent	SNP	G	G	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr5:16701663G>A	ENST00000513610.1	-	25	3295	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F	MYO10_ENST00000505695.1_Silent_p.F286F|MYO10_ENST00000515803.1_Silent_p.F286F|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Silent_p.F304F|MYO10_ENST00000427430.2_Silent_p.F304F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	947					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.F947F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGATCTCGTCGAAATTGAGGG	0.632																																																1	Substitution - coding silent(1)	kidney(1)											38	44	42					5																	16701663		2150	4273	6423	SO:0001819	synonymous_variant	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2841C>T	5.37:g.16701663G>A			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																				0.632	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		A	16701663	G	A	16701663	2	1	445	1	0	0	0	0	0	0	0	1	10064	1049	37	1		1	MYO10	5	16701663	Silent	SNP	G	TCGA-BP-5198-01A-01D-1429-08		16701663	164213597	20	24324											
WDR36	134430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	110434508	110434508	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr5:110434508T>G	ENST00000513710.2	+	4	552	c.548T>G	c.(547-549)aTt>aGt	p.I183S	WDR36_ENST00000506538.2_Missense_Mutation_p.I183S|WDR36_ENST00000505303.1_Missense_Mutation_p.I127S			Q8NI36	WDR36_HUMAN	WD repeat domain 36	183					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.I183S(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		ACTGATGGCATTCTTATTATT	0.313																																																1	Substitution - Missense(1)	kidney(1)											134	129	131					5																	110434508		2202	4298	6500	SO:0001583	missense	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.548T>G	5.37:g.110434508T>G	ENSP00000424628:p.Ile183Ser		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.064425	0.36470	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303;ENST00000504122	T;T;T;T	0.33216	1.75;1.75;3.45;1.42	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.495241	0.23288	N	0.049838	T	0.18425	0.0442	N	0.04508	-0.205	0.38217	D	0.940652	B	0.20887	0.049	B	0.18263	0.021	T	0.10847	-1.0612	10	0.87932	D	0	-5.0434	16.0011	0.80292	0.0:0.0:0.0:1.0	.	183	Q8NI36	WDR36_HUMAN	S	183;183;127;54	ENSP00000423067:I183S;ENSP00000424628:I183S;ENSP00000422158:I127S;ENSP00000426509:I54S	ENSP00000426509:I54S	I	+	2	0	WDR36	110462407	1.000000	0.71417	0.962000	0.40283	0.970000	0.65996	4.888000	0.63164	2.177000	0.69029	0.528000	0.53228	ATT		0.313	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		G	110434508	T	G	110434508	3	3	445	1	0	0	0	0	1	0	0	0	17295	1493	52	5	562	5	WDR36	5	110434508	Missense_Mutation	SNP	T	TCGA-BP-5198-01A-01D-1429-08	93732845	110434508	70480752	21	24325											
PCDHA12	56137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140256882	140256882	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr5:140256882T>C	ENST00000398631.2	+	1	1825	c.1825T>C	c.(1825-1827)Tac>Cac	p.Y609H	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	609	Cadherin 6. {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)	p.Y609H(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCTGTCCTACGAGTTGCA	0.667																																					Pancreas(113;759 1672 13322 24104 50104)											1	Substitution - Missense(1)	kidney(1)											386	337	353					5																	140256882		2203	4299	6502	SO:0001583	missense	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1825T>C	5.37:g.140256882T>C	ENSP00000381628:p.Tyr609His		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.287187	0.40494	.	.	ENSG00000251664	ENST00000398631	T	0.62941	-0.01	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88518	0.6458	H	0.99726	4.73	0.25205	N	0.990029	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	D	0.83935	0.0308	9	0.87932	D	0	.	13.8645	0.63581	0.0:0.0:0.0:1.0	.	609;609	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	H	609	ENSP00000381628:Y609H	ENSP00000381628:Y609H	Y	+	1	0	PCDHA12	140237066	0.977000	0.34250	0.045000	0.18777	0.425000	0.31504	5.704000	0.68347	1.752000	0.51891	0.459000	0.35465	TAC		0.667	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		C	140256882	T	C	140256882	3	2	445	1	0	0	0	0	1	0	0	0	11524	1522	53	3	1827	3	PCDHA12	5	140256882	Missense_Mutation	SNP	T	TCGA-BP-5198-01A-01D-1429-08	29822374	140256882	40658378	22	24326											
DIAPH1	1729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140954549	140954549	+	Silent	SNP	G	G	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr5:140954549G>T	ENST00000398557.4	-	15	1766	c.1626C>A	c.(1624-1626)tcC>tcA	p.S542S	DIAPH1_ENST00000398562.2_Silent_p.S533S|DIAPH1_ENST00000518047.1_Silent_p.S533S|DIAPH1_ENST00000253811.6_Silent_p.S542S|DIAPH1_ENST00000398566.3_Silent_p.S533S|DIAPH1_ENST00000389057.5_Silent_p.S533S|DIAPH1_ENST00000520569.1_Silent_p.S488S|DIAPH1_ENST00000389054.3_Silent_p.S542S	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	542					actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)	p.S542S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGAGCTGGGACACCTCTG	0.502																																																1	Substitution - coding silent(1)	kidney(1)											152	143	146					5																	140954549		2045	4202	6247	SO:0001819	synonymous_variant	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1626C>A	5.37:g.140954549G>T			A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	CCDS43374.1																																																																																				0.502	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		T	140954549	G	T	140954549	2	4	445	1	0	0	0	0	0	0	0	1	4520	1219	43	4		4	DIAPH1	5	140954549	Silent	SNP	G	TCGA-BP-5198-01A-01D-1429-08	697667	140954549	39960711	23	24327											
ADAM19	8728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156923994	156923994	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr5:156923994A>T	ENST00000517905.1	-	14	1546	c.1502T>A	c.(1501-1503)aTg>aAg	p.M501K	ADAM19_ENST00000257527.4_Missense_Mutation_p.M501K|ADAM19_ENST00000430702.2_Missense_Mutation_p.M234K|ADAM19_ENST00000394020.1_Missense_Mutation_p.M503K			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	501	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.M502K(1)|p.M501K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTACCATCCATCTGGTAGAA	0.637																																																2	Substitution - Missense(2)	kidney(2)											44	42	43					5																	156923994		2203	4300	6503	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1502T>A	5.37:g.156923994A>T	ENSP00000428654:p.Met501Lys		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.5|27.5	4.832640|4.832640	0.91036|0.91036	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T;T|.	0.01527|.	4.8;4.92;4.95;4.92|.	5.49|5.49	5.49|5.49	0.81192|0.81192	ADAM, cysteine-rich (1);Blood coagulation inhibitor, Disintegrin (2);|.	0.146679|.	0.48286|.	D|.	0.000185|.	T|T	0.52948|0.52948	0.1766|0.1766	N|N	0.25286|0.25286	0.73|0.73	0.48511|0.48511	D|D	0.999664|0.999664	D;P;D|.	0.56521|.	0.97;0.949;0.976|.	P;P;P|.	0.52066|.	0.689;0.491;0.609|.	T|T	0.50268|0.50268	-0.8848|-0.8848	10|5	0.62326|.	D|.	0.03|.	.|.	15.5844|15.5844	0.76470|0.76470	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	501;501;234|.	Q9H013-2;Q9H013;E9PD32|.	.;ADA19_HUMAN;.|.	K|R	234;501;503;501|72	ENSP00000414088:M234K;ENSP00000257527:M501K;ENSP00000377588:M503K;ENSP00000428654:M501K|.	ENSP00000257527:M501K|.	M|W	-|-	2|1	0|0	ADAM19|ADAM19	156856572|156856572	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.253000|6.253000	0.72453|0.72453	2.080000|2.080000	0.62538|0.62538	0.455000|0.455000	0.32223|0.32223	ATG|TGG		0.637	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		T	156923994	A	T	156923994	3	4	445	1	0	0	0	0	1	0	0	0	240	217	8	5	1294	5	ADAM19	5	156923994	Missense_Mutation	SNP	A	TCGA-BP-5198-01A-01D-1429-08	15969445	156923994	23991266	24	24328											
MGAT4B	11282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179225513	179225513	+	Splice_Site	SNP	G	G	A	rs552336424		TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr5:179225513G>A	ENST00000292591.7	-	12	1772	c.1422C>T	c.(1420-1422)gaC>gaT	p.D474D	MGAT4B_ENST00000337755.5_Splice_Site_p.D489D|MGAT4B_ENST00000521305.1_5'Flank|MIR1229_ENST00000408467.1_RNA	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	474					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.D489D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAACTTACGTCGAAGGGCA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18398	0.0		0.0	False		,,,				2504	0.001				GBM(13;414 434 4098 22176 23230)											1	Substitution - coding silent(1)	kidney(1)											104	84	91					5																	179225513		2203	4300	6503	SO:0001630	splice_region_variant	11282			AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7048	protein-coding gene	gene with protein product		604561	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1422+1C>T	5.37:g.179225513G>A			A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Silent	SNP	ENST00000292591.7	37	CCDS4448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.12|12.12	1.842028|1.842028	0.32513|0.32513	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000518778;ENST00000520875|ENST00000520969;ENST00000518980;ENST00000518867	.|.	.|.	.|.	3.96|3.96	-5.89|-5.89	0.02282|0.02282	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60418	.|0.2267	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62868	.|-0.6763	.|4	.|.	.|.	.|.	-14.549|-14.549	13.4221|13.4221	0.61005|0.61005	0.4947:0.0:0.5053:0.0|0.4947:0.0:0.5053:0.0	.|.	.|.	.|.	.|.	X|I	299;255|166;220;235	.|.	.|.	Q|T	-|-	1|2	0|0	MGAT4B|MGAT4B	179158119|179158119	0.043000|0.043000	0.20138|0.20138	0.889000|0.889000	0.34880|0.34880	0.375000|0.375000	0.29983|0.29983	-0.700000|-0.700000	0.05081|0.05081	-0.869000|-0.869000	0.04052|0.04052	-0.672000|-0.672000	0.03802|0.03802	CAA|ACA		0.607	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275	Silent	A	179225513	G	A	179225513	5	1	445	1	0	0	0	0	0	0	1	0	9548	1159	40	1	240	1	MGAT4B	5	179225513	Splice_Site	SNP	G	TCGA-BP-5198-01A-01D-1429-08	22301519	179225513	1689747	25	24329											
FANCE	2178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35423912	35423912	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr6:35423912G>A	ENST00000229769.2	+	2	822	c.637G>A	c.(637-639)Ggg>Agg	p.G213R		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	213	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G213R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CAGTCCTGAGGGGAAGAGGGT	0.557			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"Fanconi anemia, complementation group E"		L	1	Substitution - Missense(1)	kidney(1)											60	56	57					6																	35423912		2203	4300	6503	SO:0001583	missense	2178	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"Fanconi anemia, complementation groups"	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.637G>A	6.37:g.35423912G>A	ENSP00000229769:p.Gly213Arg		A8K907|Q4ZGH2	Missense_Mutation	SNP	ENST00000229769.2	37	CCDS4805.1	.	.	.	.	.	.	.	.	.	.	G	4.812	0.150997	0.09185	.	.	ENSG00000112039	ENST00000229769	T	0.44881	0.91	5.41	0.035	0.14185	.	0.404248	0.27210	N	0.020403	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30707	-0.9969	10	0.09084	T	0.74	-8.3424	1.7224	0.02915	0.2138:0.2598:0.3859:0.1405	.	213	Q9HB96	FANCE_HUMAN	R	213	ENSP00000229769:G213R	ENSP00000229769:G213R	G	+	1	0	FANCE	35531890	0.001000	0.12720	0.007000	0.13788	0.162000	0.22319	0.150000	0.16263	0.222000	0.20900	0.511000	0.50034	GGG		0.557	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			A	35423912	G	A	35423912	3	1	445	1	0	0	0	0	1	0	0	0	5668	1232	43	2	643	2	FANCE	6	35423912	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08		35423912	135691155	26	24330											
CD109	135228	broad.mit.edu;ucsc.edu	37	6	74516670	74516670	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr6:74516670A>C	ENST00000287097.5	+	25	3176	c.3064A>C	c.(3064-3066)Aaa>Caa	p.K1022Q	CD109_ENST00000422508.2_Missense_Mutation_p.K945Q|CD109_ENST00000437994.2_Missense_Mutation_p.K1022Q			Q6YHK3	CD109_HUMAN	CD109 molecule	1022					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.K1022Q(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGACATCAGAAATCCAACGG	0.383																																																1	Substitution - Missense(1)	kidney(1)											92	86	88					6																	74516670		2203	4300	6503	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3064A>C	6.37:g.74516670A>C	ENSP00000287097:p.Lys1022Gln		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.314903	0.40996	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.33865	1.39;1.39;1.39	4.62	4.62	0.57501	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.742274	0.13146	N	0.410235	T	0.17195	0.0413	L	0.39898	1.24	0.28015	N	0.934753	P;B;B	0.43885	0.82;0.36;0.03	B;B;B	0.41764	0.366;0.177;0.071	T	0.03818	-1.1001	10	0.38643	T	0.18	.	10.6201	0.45474	0.8391:0.1609:0.0:0.0	.	945;1022;1022	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	Q	1022;945;1022	ENSP00000388062:K1022Q;ENSP00000404475:K945Q;ENSP00000287097:K1022Q	ENSP00000287097:K1022Q	K	+	1	0	CD109	74573391	1.000000	0.71417	0.983000	0.44433	0.603000	0.37013	2.785000	0.47782	2.071000	0.62044	0.528000	0.53228	AAA		0.383	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		C	74516670	A	C	74516670	3	2	445	1	0	0	0	0	1	0	0	0	2965	247	9	5	3162	5	CD109	6	74516670	Missense_Mutation	SNP	A	TCGA-BP-5198-01A-01D-1429-08	39092758	74516670	96598397	27	24331											
HIBADH	11112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	27570888	27570888	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr7:27570888G>T	ENST00000265395.2	-	7	981	c.775C>A	c.(775-777)Cct>Act	p.P259T		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	259					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.P259T(1)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			CCAGGTACAGGATTATAAGTG	0.443																																																1	Substitution - Missense(1)	kidney(1)											142	121	128					7																	27570888		2203	4300	6503	SO:0001583	missense	11112			AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.775C>A	7.37:g.27570888G>T	ENSP00000265395:p.Pro259Thr		Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	37	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112841	0.77210	.	.	ENSG00000106049	ENST00000265395	T	0.37584	1.19	6.17	6.17	0.99709	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.047437	0.85682	D	0.000000	T	0.77445	0.4131	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.85164	0.0994	10	0.87932	D	0	-7.9317	20.8794	0.99867	0.0:0.0:1.0:0.0	.	259	P31937	3HIDH_HUMAN	T	259	ENSP00000265395:P259T	ENSP00000265395:P259T	P	-	1	0	HIBADH	27537413	1.000000	0.71417	0.978000	0.43139	0.452000	0.32318	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCT		0.443	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		T	27570888	G	T	27570888	3	4	445	1	0	0	0	0	1	0	0	0	7101	1174	41	4	243	4	HIBADH	7	27570888	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08		27570888	131567775	28	24332											
POM121	9883	broad.mit.edu;hgsc.bcm.edu	37	7	72398925	72398925	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr7:72398925G>A	ENST00000434423.2	+	4	1025	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	POM121_ENST00000395270.1_Missense_Mutation_p.R77H|POM121_ENST00000358357.3_Missense_Mutation_p.R77H|POM121_ENST00000446813.1_Missense_Mutation_p.R77H|POM121_ENST00000257622.4_Missense_Mutation_p.R77H			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	342	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.R77H(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TGTCGCAGGCGCCATGATAGC	0.448																																																2	Substitution - Missense(2)	kidney(2)											180	184	183					7																	72398925		2203	4300	6503	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1025G>A	7.37:g.72398925G>A	ENSP00000405562:p.Arg342His		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37		.	.	.	.	.	.	.	.	.	.	G	10.61	1.397626	0.25205	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	4.0	3.1	0.35709	.	0.345496	0.21168	N	0.079031	T	0.32823	0.0842	M	0.77103	2.36	0.37203	D	0.904477	D;P	0.76494	0.999;0.937	P;P	0.62014	0.897;0.799	T	0.36335	-0.9752	10	0.62326	D	0.03	.	11.0919	0.48121	0.0:0.1881:0.8119:0.0	.	77;342	A8MXF9;Q96HA1	.;P121A_HUMAN	H	77;77;77;77;342	ENSP00000393020:R77H;ENSP00000257622:R77H;ENSP00000378687:R77H;ENSP00000351124:R77H;ENSP00000405562:R342H	ENSP00000257622:R77H	R	+	2	0	POM121	72036861	1.000000	0.71417	0.998000	0.56505	0.057000	0.15508	7.194000	0.77789	0.863000	0.35553	-0.514000	0.04452	CGC		0.448	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			A	72398925	G	A	72398925	3	1	445	1	0	0	0	0	1	0	0	0	12241	1087	38	1	240	1	POM121	7	72398925	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08	44828037	72398925	86739738	29	24333											
EMID2	136227	broad.mit.edu	37	7	101006350	101006350	+	RNA	SNP	T	T	G			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr7:101006350T>G	ENST00000397927.3	+	0	250				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.C13G(1)									GGCGTGTTGCTGCCTCTGCGG	0.751																																																1	Substitution - Missense(1)	kidney(1)											5	7	6					7																	101006350		1981	4095	6076			136227			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101006350T>G			Q32M90	Missense_Mutation	SNP	ENST00000397927.3	37		.	.	.	.	.	.	.	.	.	.	T	13.89	2.371233	0.42003	.	.	ENSG00000160963	ENST00000313669	D	0.91180	-2.8	4.02	2.87	0.33458	.	0.000000	0.36893	U	0.002351	T	0.76241	0.3960	N	0.08118	0	0.22017	N	0.999419	D;D	0.53885	0.963;0.963	B;B	0.41036	0.346;0.346	T	0.69476	-0.5135	10	0.35671	T	0.21	.	5.339	0.15973	0.0:0.1328:0.0:0.8672	.	13;13	Q96A83;C9JPW4	EMID2_HUMAN;.	G	13	ENSP00000318234:C13G	ENSP00000318234:C13G	C	+	1	0	EMID2	100793070	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.278000	0.58946	1.436000	0.47453	0.254000	0.18369	TGC		0.751	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		G	101006350	T	G	101006350	1	3	445	0	1	0	0	0	0	0	0	0	5094	1580	55	5		5	EMID2	7	101006350	RNA	SNP	T	TCGA-BP-5198-01A-01D-1429-08	28607425	101006350	58132313	30	24334											
KIAA1147	57189	broad.mit.edu	37	7	141364002	141364002	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr7:141364002T>C	ENST00000536163.1	-	8	1141	c.1142A>G	c.(1141-1143)tAc>tGc	p.Y381C	KIAA1147_ENST00000482493.1_Missense_Mutation_p.Y277C|RP5-894A10.6_ENST00000602609.1_RNA	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	381								p.Y381C(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					ACAAGGGTTGTAGTCTTCTTC	0.572																																																1	Substitution - Missense(1)	kidney(1)											64	71	69					7																	141364002		2069	4194	6263	SO:0001583	missense	57189			AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.1142A>G	7.37:g.141364002T>C	ENSP00000445768:p.Tyr381Cys		Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095882	0.36952	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	6.07	2.36	0.29203	.	0.264283	0.44483	N	0.000448	T	0.06280	0.0162	N	0.00237	-1.79	0.30728	N	0.747576	B	0.06786	0.001	B	0.09377	0.004	T	0.11131	-1.0600	9	0.38643	T	0.18	-17.1836	2.8376	0.05520	0.0:0.3034:0.249:0.4476	.	381	A4D1U4	LCHN_HUMAN	C	381;277	.	ENSP00000297761:Y381C	Y	-	2	0	KIAA1147	141010471	1.000000	0.71417	0.871000	0.34182	0.979000	0.70002	2.811000	0.47986	0.511000	0.28236	-0.256000	0.11100	TAC		0.572	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			C	141364002	T	C	141364002	3	2	445	1	0	0	0	0	1	0	0	0	8212	1638	57	3	233	3	KIAA1147	7	141364002	Missense_Mutation	SNP	T	TCGA-BP-5198-01A-01D-1429-08	40357652	141364002	17774661	31	24335											
MTMR9	66036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	11142463	11142463	+	Silent	SNP	C	C	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr8:11142463C>T	ENST00000221086.3	+	1	539	c.66C>T	c.(64-66)taC>taT	p.Y22Y	MTMR9_ENST00000526292.1_5'Flank	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	22						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)	p.Y22Y(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GGCCTTTCTACCCGGCTGTCG	0.647																																																1	Substitution - coding silent(1)	kidney(1)											44	45	45					8																	11142463		2203	4300	6503	SO:0001819	synonymous_variant	66036			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.66C>T	8.37:g.11142463C>T			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	ENST00000221086.3	37	CCDS5979.1																																																																																				0.647	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		T	11142463	C	T	11142463	2	4	445	1	0	0	0	0	0	0	0	1	9952	518	18	2		2	MTMR9	8	11142463	Silent	SNP	C	TCGA-BP-5198-01A-01D-1429-08		11142463	135221559	32	24336											
LRP12	29967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	105507335	105507335	+	Silent	SNP	A	A	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr8:105507335A>T	ENST00000276654.5	-	6	1791	c.1683T>A	c.(1681-1683)gtT>gtA	p.V561V	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Silent_p.V542V	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	561					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.V561V(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAAAATCTTCAACTGGTGGAA	0.358																																																1	Substitution - coding silent(1)	kidney(1)											122	128	126					8																	105507335		2203	4300	6503	SO:0001819	synonymous_variant	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1683T>A	8.37:g.105507335A>T			A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	37	CCDS6303.1																																																																																				0.358	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		T	105507335	A	T	105507335	2	4	445	1	0	0	0	0	0	0	0	1	8956	117	5	5		5	LRP12	8	105507335	Silent	SNP	A	TCGA-BP-5198-01A-01D-1429-08	94364872	105507335	40856687	33	24337											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113323219	113323219	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr8:113323219G>A	ENST00000297405.5	-	50	8117	c.7873C>T	c.(7873-7875)Cct>Tct	p.P2625S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2521S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2585S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2555S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2625	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2625S(1)|p.P2585S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGACAGGCAGGGACTGGCGCA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Substitution - Missense(2)	kidney(2)											110	91	98					8																	113323219		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7873C>T	8.37:g.113323219G>A	ENSP00000297405:p.Pro2625Ser		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043309	0.75732	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.93132	0.7813	H	0.97918	4.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.95395	0.8485	10	0.87932	D	0	.	19.4376	0.94804	0.0:0.0:1.0:0.0	.	2521;2625;2585	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	2585;2625;1895;2521;2555	ENSP00000345799:P2585S;ENSP00000297405:P2625S;ENSP00000341558:P1895S;ENSP00000412263:P2521S;ENSP00000343124:P2555S	ENSP00000297405:P2625S	P	-	1	0	CSMD3	113392395	1.000000	0.71417	0.957000	0.39632	0.360000	0.29518	9.864000	0.99589	2.581000	0.87130	0.591000	0.81541	CCT		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113323219	G	A	113323219	3	1	445	1	0	0	0	0	1	0	0	0	3948	1232	43	2	3338	2	CSMD3	8	113323219	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08	7815884	113323219	33040803	34	24338											
TAF2	6873	hgsc.bcm.edu;ucsc.edu	37	8	120744220	120744221	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr8:120744220_120744221insA	ENST00000378164.2	-	26	3841_3842	c.3543_3544insT	c.(3541-3546)ttcactfs	p.T1182fs		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1182					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGGAGAAAGTGAAAGGCTCCT	0.436																																																0																																										SO:0001589	frameshift_variant	6873			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3543_3544insT	8.37:g.120744220_120744221insA	ENSP00000367406:p.Thr1182fs		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Frame_Shift_Ins	INS	ENST00000378164.2	37	CCDS34937.1																																																																																				0.436	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		A	120744221	-	A	120744220	7	5	445	1	0	1	1	0	0	0	0	0	15529	1696	59	0	59	0	TAF2	8	120744220	Frame_Shift_Ins	INS	-	TCGA-BP-5198-01A-01D-1429-08	7421001	120744220	25619802	35	24339											
CORO2A	7464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100899899	100899899	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr9:100899899G>C	ENST00000343933.5	-	3	530	c.273C>G	c.(271-273)aaC>aaG	p.N91K	CORO2A_ENST00000375077.4_Missense_Mutation_p.N91K	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	91					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)	p.N91K(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CATCAAAAGGGTTCCACTTGA	0.557																																																1	Substitution - Missense(1)	kidney(1)											129	122	124					9																	100899899		2203	4300	6503	SO:0001583	missense	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.273C>G	9.37:g.100899899G>C	ENSP00000343746:p.Asn91Lys		Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691135	0.48097	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.61040	0.14;0.14	4.58	2.19	0.27852	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	M	0.66560	2.04	0.58432	D	0.999996	D	0.76494	0.999	D	0.81914	0.995	T	0.66460	-0.5918	10	0.59425	D	0.04	-33.4489	7.65	0.28342	0.3473:0.0:0.6527:0.0	.	91	Q92828	COR2A_HUMAN	K	91	ENSP00000343746:N91K;ENSP00000364218:N91K	ENSP00000343746:N91K	N	-	3	2	CORO2A	99939720	0.999000	0.42202	1.000000	0.80357	0.811000	0.45836	0.660000	0.25009	0.376000	0.24707	0.561000	0.74099	AAC		0.557	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		C	100899899	G	C	100899899	3	2	445	1	0	0	0	0	1	0	0	0	3758	1252	44	4	1344	4	CORO2A	9	100899899	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08		100899899	40313532	36	24340											
PIP5KL1	138429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130687392	130687392	+	Missense_Mutation	SNP	G	G	C	rs149767177	byFrequency	TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr9:130687392G>C	ENST00000388747.4	-	9	955	c.911C>G	c.(910-912)aCg>aGg	p.T304R	PIP5KL1_ENST00000490773.1_5'Flank|PIP5KL1_ENST00000300432.3_Missense_Mutation_p.T101R	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	304	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.T304R(1)|p.T101R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TCACCTGGCCGTGCGGAAGAT	0.617																																																2	Substitution - Missense(2)	kidney(2)											73	78	76					9																	130687392		2203	4300	6503	SO:0001583	missense	138429			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.911C>G	9.37:g.130687392G>C	ENSP00000373399:p.Thr304Arg		Q8IVS3	Missense_Mutation	SNP	ENST00000388747.4	37	CCDS48030.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743019	0.49151	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.29397	1.57;1.57	4.83	-2.67	0.06059	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	1.526220	0.03908	N	0.281412	T	0.38480	0.1042	L	0.57536	1.79	0.18873	N	0.999986	P	0.50066	0.931	P	0.50314	0.637	T	0.47623	-0.9103	10	0.23302	T	0.38	0.4924	10.4932	0.44762	0.6486:0.0:0.3514:0.0	.	304	Q5T9C9	PI5L1_HUMAN	R	304;101	ENSP00000373399:T304R;ENSP00000300432:T101R	ENSP00000300432:T101R	T	-	2	0	PIP5KL1	129727213	0.001000	0.12720	0.004000	0.12327	0.026000	0.11368	-0.156000	0.10100	-0.448000	0.07128	-0.339000	0.08088	ACG		0.617	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		C	130687392	G	C	130687392	3	2	445	1	0	0	0	0	1	0	0	0	11944	1145	40	4	281	4	PIP5KL1	9	130687392	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08	29787493	130687392	10526039	37	24341											
CDH23	414152	broad.mit.edu	37	10	73499530	73499530	+	5'Flank	SNP	G	G	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr10:73499530G>T	ENST00000398786.2	-	0	0				CDH23_ENST00000224721.6_Splice_Site	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)		p.?(1)									CATCCTCCAGGTGGGGCCTGG	0.592																																																1	Unknown(1)	kidney(1)											29	31	31					10																	73499530		1968	4133	6101	SO:0001631	upstream_gene_variant	64072			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427		10.37:g.73499530G>T	Exception_encountered			Splice_Site	SNP	ENST00000398786.2	37	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690886	0.88735	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7591	0.96306	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH23	73169536	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	8.314000	0.89980	2.681000	0.91329	0.655000	0.94253	.		0.592	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		T	73499530	G	T	73499530	1	4	445	0	1	0	0	0	0	0	0	0	3110	1275	44	4		4	CDH23	10	73499530	5'Flank	SNP	G	TCGA-BP-5198-01A-01D-1429-08		73499530	62035217	38	24342											
DPYSL4	10570	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	134012456	134012456	+	Silent	SNP	C	C	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr10:134012456C>A	ENST00000338492.4	+	8	956	c.792C>A	c.(790-792)atC>atA	p.I264I	DPYSL4_ENST00000368629.1_Silent_p.I164I|DPYSL4_ENST00000368627.1_Silent_p.I164I	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	264					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.I264I(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CCGACGCCATCGCTCAGGCCA	0.672																																																1	Substitution - coding silent(1)	kidney(1)											68	56	60					10																	134012456		2202	4300	6502	SO:0001819	synonymous_variant	10570			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.792C>A	10.37:g.134012456C>A			B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	CCDS7665.1																																																																																				0.672	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			A	134012456	C	A	134012456	2	1	445	1	0	0	0	0	0	0	0	1	4751	874	31	4		4	DPYSL4	10	134012456	Silent	SNP	C	TCGA-BP-5198-01A-01D-1429-08	60512926	134012456	1522291	39	24343											
C11orf41	25758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	33565157	33565157	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr11:33565157C>A	ENST00000321505.4	+	1	1337	c.1157C>A	c.(1156-1158)aCa>aAa	p.T386K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T386K|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T386K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	386						integral component of membrane (GO:0016021)		p.T386K(2)									GATTCCTTAACAATAGGAGAC	0.458											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(2)											35	34	34					11																	33565157		1906	4126	6032	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1157C>A	11.37:g.33565157C>A	ENSP00000315295:p.Thr386Lys	841	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	7.631	0.678761	0.14841	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.46	3.58	0.41010	.	0.709669	0.13223	N	0.404221	T	0.27313	0.0670	L	0.54323	1.7	0.09310	N	1	P;P	0.38078	0.483;0.617	B;B	0.37144	0.058;0.242	T	0.11991	-1.0565	9	0.08381	T	0.77	-1.7723	5.5837	0.17264	0.1565:0.6756:0.0:0.1679	.	386;386	E9PAT2;Q6ZVL6-2	.;.	K	386;386;386;226	.	ENSP00000265654:T386K	T	+	2	0	C11orf41	33521733	0.013000	0.17824	0.786000	0.31890	0.360000	0.29518	0.544000	0.23253	1.308000	0.44962	0.555000	0.69702	ACA		0.458	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		A	33565157	C	A	33565157	3	1	445	1	0	0	0	0	1	0	0	0	1642	478	17	4	1159	4	C11orf41	11	33565157	Missense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08		33565157	101441359	40	24344											
RSF1	51773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77412360	77412360	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr11:77412360A>T	ENST00000308488.6	-	6	2216	c.1914T>A	c.(1912-1914)tgT>tgA	p.C638*	RSF1_ENST00000480887.1_Nonsense_Mutation_p.C386*|RSF1_ENST00000360355.2_Nonsense_Mutation_p.C607*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	638					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.C638*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTAGTTTCTCACAGTGGTCAA	0.438																																																1	Substitution - Nonsense(1)	kidney(1)											115	119	118					11																	77412360		2196	4290	6486	SO:0001587	stop_gained	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1914T>A	11.37:g.77412360A>T	ENSP00000311513:p.Cys638*		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Nonsense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	A	36	5.627146	0.96671	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	.	.	.	5.23	1.54	0.23209	.	1.040500	0.07526	N	0.911385	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	0.2736	6.1145	0.20120	0.5496:0.2598:0.0:0.1906	.	.	.	.	X	638;386;607;439;637	.	ENSP00000311513:C638X	C	-	3	2	RSF1	77090008	0.000000	0.05858	0.090000	0.20809	0.456000	0.32438	0.306000	0.19279	0.993000	0.38866	0.533000	0.62120	TGT		0.438	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		T	77412360	A	T	77412360	4	4	445	1	0	0	0	0	0	1	0	0	13705	157	6	5	2455	5	RSF1	11	77412360	Nonsense_Mutation	SNP	A	TCGA-BP-5198-01A-01D-1429-08	43847203	77412360	57594156	41	24345											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92531032	92531032	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr11:92531032C>T	ENST00000298047.6	+	9	4870	c.4853C>T	c.(4852-4854)cCg>cTg	p.P1618L	FAT3_ENST00000409404.2_Missense_Mutation_p.P1618L|FAT3_ENST00000525166.1_Missense_Mutation_p.P1468L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1618	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1618L(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGATCGAACCGGTCCTAGGC	0.423										TCGA Ovarian(4;0.039)																																						4	Substitution - Missense(4)	endometrium(2)|kidney(2)											111	107	108					11																	92531032		1983	4160	6143	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4853C>T	11.37:g.92531032C>T	ENSP00000298047:p.Pro1618Leu		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	17.15	3.315679	0.60524	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.55234	0.53;0.53;0.53	5.81	4.87	0.63330	.	.	.	.	.	T	0.73976	0.3656	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.77440	-0.2587	9	0.62326	D	0.03	.	17.0019	0.86383	0.0:0.8732:0.1268:0.0	.	1618	Q8TDW7-3	.	L	1618;1618;1468	ENSP00000298047:P1618L;ENSP00000387040:P1618L;ENSP00000432586:P1468L	ENSP00000298047:P1618L	P	+	2	0	FAT3	92170680	1.000000	0.71417	0.998000	0.56505	0.100000	0.18952	4.915000	0.63355	2.755000	0.94549	0.650000	0.86243	CCG		0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92531032	C	T	92531032	3	4	445	1	0	0	0	0	1	0	0	0	5693	652	23	1	4887	1	FAT3	11	92531032	Missense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	15118672	92531032	42475484	42	24346											
PKP2	5318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32976979	32976979	+	Splice_Site	SNP	C	C	G			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr12:32976979C>G	ENST00000070846.6	-	8	1830	c.1806G>C	c.(1804-1806)aaG>aaC	p.K602N	PKP2_ENST00000340811.4_Splice_Site_p.K558N	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	602					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.K602N(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTGAATTACCTTGTCATCTG	0.398																																																1	Substitution - Missense(1)	kidney(1)											139	120	126					12																	32976979		2203	4300	6503	SO:0001630	splice_region_variant	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1806+1G>C	12.37:g.32976979C>G			A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361164	0.61403	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.85339	-1.97;-1.97	5.32	3.5	0.40072	Armadillo-like helical (1);Armadillo-type fold (1);	0.156332	0.56097	D	0.000029	D	0.92479	0.7612	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.995	D	0.92334	0.5876	9	.	.	.	-0.5275	13.0404	0.58895	0.0:0.9004:0.0:0.0996	.	558;558;602	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	N	558;602;602	ENSP00000342800:K558N;ENSP00000070846:K602N	.	K	-	3	2	PKP2	32868246	1.000000	0.71417	0.997000	0.53966	0.535000	0.34838	5.017000	0.64047	0.633000	0.30452	0.585000	0.79938	AAG		0.398	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	Missense_Mutation	G	32976979	C	G	32976979	5	3	445	1	0	0	0	0	0	0	1	0	11987	695	24	4	867	4	PKP2	12	32976979	Splice_Site	SNP	C	TCGA-BP-5198-01A-01D-1429-08		32976979	100874916	43	24347											
FKBP11	51303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49315838	49315838	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr12:49315838T>A	ENST00000550765.1	-	6	933	c.535A>T	c.(535-537)Aag>Tag	p.K179*	AC073610.5_ENST00000537495.1_3'UTR|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000444214.2_Nonsense_Mutation_p.K77*|RP11-302B13.5_ENST00000398092.4_Intron	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	179					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.K179*(1)		kidney(1)|large_intestine(3)|lung(1)	5						CTATTGGCCTTTCTGTATAGG	0.418																																																1	Substitution - Nonsense(1)	kidney(1)											87	91	90					12																	49315838		2203	4300	6503	SO:0001587	stop_gained	51303			AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"FK506 binding protein 11 (19 kDa)"			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.535A>T	12.37:g.49315838T>A	ENSP00000449751:p.Lys179*		B4DWB7	Nonsense_Mutation	SNP	ENST00000550765.1	37	CCDS8773.1	.	.	.	.	.	.	.	.	.	.	T	36	5.781279	0.96929	.	.	ENSG00000134285	ENST00000444214;ENST00000550765	.	.	.	5.85	5.85	0.93711	.	0.105434	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8662	15.5289	0.75936	0.0:0.0:0.0:1.0	.	.	.	.	X	77;179	.	ENSP00000412403:K77X	K	-	1	0	FKBP11	47602105	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	7.010000	0.76353	2.371000	0.80710	0.533000	0.62120	AAG		0.418	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594		A	49315838	T	A	49315838	4	1	445	1	0	0	0	0	0	1	0	0	5905	1850	64	5	74	5	FKBP11	12	49315838	Nonsense_Mutation	SNP	T	TCGA-BP-5198-01A-01D-1429-08	16338859	49315838	84536057	44	24348											
LRIG3	121227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	59268041	59268041	+	Frame_Shift_Del	DEL	A	A	-	rs143823251		TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr12:59268041delA	ENST00000320743.3	-	18	3197	c.2911delT	c.(2911-2913)tacfs	p.Y971fs	LRIG3_ENST00000379141.4_Frame_Shift_Del_p.Y911fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	971					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GAACATGGGTAGCACTCCTTT	0.433			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													108	103	105					12																	59268041		2203	4300	6503	SO:0001589	frameshift_variant	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2911delT	12.37:g.59268041delA	ENSP00000326759:p.Tyr971fs		Q6UXL7|Q8NC72	Frame_Shift_Del	DEL	ENST00000320743.3	37	CCDS8960.1																																																																																				0.433	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		-	59268041	A	-	59268041	7	5	445	1	0	1	0	1	0	0	0	0	8948	420	15	0	456	0	LRIG3	12	59268041	Frame_Shift_Del	DEL	A	TCGA-BP-5198-01A-01D-1429-08	9952203	59268041	74583854	45	24349											
YEATS4	8089	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	69764550	69764550	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr12:69764550C>G	ENST00000247843.2	+	5	668	c.398C>G	c.(397-399)aCa>aGa	p.T133R	YEATS4_ENST00000548020.1_Missense_Mutation_p.T79R	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	133					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)	p.T133R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GGGAAAAAGACAGTGGTTTCA	0.343																																																1	Substitution - Missense(1)	kidney(1)											99	99	99					12																	69764550		2203	4300	6503	SO:0001583	missense	8089			AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.398C>G	12.37:g.69764550C>G	ENSP00000247843:p.Thr133Arg		Q9NQD0	Missense_Mutation	SNP	ENST00000247843.2	37	CCDS8990.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282306	0.40394	.	.	ENSG00000127337	ENST00000247843;ENST00000548020;ENST00000549685;ENST00000552955	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	N	0.25647	0.755	0.80722	D	1	B	0.14438	0.01	B	0.09377	0.004	T	0.42413	-0.9453	8	.	.	.	-25.2701	20.6396	0.99537	0.0:1.0:0.0:0.0	.	133	O95619	YETS4_HUMAN	R	133;79;75;174	.	.	T	+	2	0	YEATS4	68050817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.440000	0.80464	2.881000	0.98747	0.650000	0.86243	ACA		0.343	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530		G	69764550	C	G	69764550	3	3	445	1	0	0	0	0	1	0	0	0	17478	478	17	4	416	4	YEATS4	12	69764550	Missense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	10496509	69764550	64087345	46	24350											
CCDC41	51134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	94772632	94772632	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr12:94772632C>T	ENST00000397809.5	-	7	1285	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	CCDC41_ENST00000397807.2_Missense_Mutation_p.E213K|CCDC41_ENST00000547575.1_Missense_Mutation_p.E246K|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Missense_Mutation_p.E246K	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		238					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.E246K(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGGGCATTTTCCACCTGAGCC	0.433																																																1	Substitution - Missense(1)	kidney(1)											136	132	133					12																	94772632		1878	4122	6000	SO:0001583	missense	51134																														ENST00000397809.5:c.736G>A	12.37:g.94772632C>T	ENSP00000380911:p.Glu246Lys		A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226445	0.95173	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.69	5.69	0.88448	.	.	.	.	.	T	0.44623	0.1302	M	0.63843	1.955	0.53005	D	0.999963	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.55749	0.654;0.783;0.721	T	0.10154	-1.0642	9	0.37606	T	0.19	-15.5283	19.8051	0.96529	0.0:1.0:0.0:0.0	.	246;213;238	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	K	246;246;213;246	ENSP00000344655:E246K;ENSP00000380911:E246K;ENSP00000380909:E213K;ENSP00000448913:E246K	ENSP00000344655:E246K	E	-	1	0	CCDC41	93296763	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.688000	0.74557	2.691000	0.91804	0.585000	0.79938	GAA		0.433	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			T	94772632	C	T	94772632	3	4	445	1	0	0	0	0	1	0	0	0	2815	864	30	2	1413	2	CCDC41	12	94772632	Missense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	25008082	94772632	39079263	47	24351											
P2RX2	22953	hgsc.bcm.edu;ucsc.edu	37	12	133198066	133198067	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr12:133198066_133198067insA	ENST00000389110.3	+	10	1039_1040	c.1002_1003insA	c.(1003-1005)aagfs	p.K335fs	P2RX2_ENST00000348800.5_Frame_Shift_Ins_p.K335fs|P2RX2_ENST00000352418.4_Frame_Shift_Ins_p.K263fs|P2RX2_ENST00000351222.4_Frame_Shift_Ins_p.K243fs|P2RX2_ENST00000343948.4_Frame_Shift_Ins_p.K335fs|P2RX2_ENST00000449132.2_Frame_Shift_Ins_p.K301fs|P2RX2_ENST00000350048.5_Frame_Shift_Ins_p.K311fs	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	335					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCCAGGCCGGGAAGTTCAGCCT	0.624																																																0																																										SO:0001589	frameshift_variant	22953			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.1004dupA	12.37:g.133198068_133198068dupA	ENSP00000373762:p.Lys335fs		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Frame_Shift_Ins	INS	ENST00000389110.3	37	CCDS31931.1																																																																																				0.624	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			A	133198067	-	A	133198066	7	5	445	1	0	1	1	0	0	0	0	0	11342	1161	41	0	1040	0	P2RX2	12	133198066	Frame_Shift_Ins	INS	-	TCGA-BP-5198-01A-01D-1429-08	38425434	133198066	653829	48	24352											
ATP12A	479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25284712	25284712	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr13:25284712T>A	ENST00000381946.3	+	20	3045	c.2878T>A	c.(2878-2880)Ttc>Atc	p.F960I	ATP12A_ENST00000218548.6_Missense_Mutation_p.F966I			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	960					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.F960I(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GAATTCCATCTTCCAGCAGGG	0.527																																					Pancreas(156;1582 1935 18898 22665 26498)											1	Substitution - Missense(1)	kidney(1)											89	94	92					13																	25284712		2203	4300	6503	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2878T>A	13.37:g.25284712T>A	ENSP00000371372:p.Phe960Ile		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.181917	0.57800	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.90676	-2.71;-2.71	5.49	5.49	0.81192	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.065844	0.64402	D	0.000005	D	0.87985	0.6316	M	0.63169	1.94	0.49687	D	0.999811	B;B	0.18310	0.027;0.012	B;B	0.17979	0.02;0.013	D	0.84795	0.0781	10	0.56958	D	0.05	.	8.9557	0.35816	0.1653:0.0:0.0:0.8347	.	966;960	P54707-2;P54707	.;AT12A_HUMAN	I	966;960	ENSP00000218548:F966I;ENSP00000371372:F960I	ENSP00000218548:F966I	F	+	1	0	ATP12A	24182712	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.792000	0.69052	2.076000	0.62316	0.533000	0.62120	TTC		0.527	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		A	25284712	T	A	25284712	3	1	445	1	0	0	0	0	1	0	0	0	1122	1609	56	5	2974	5	ATP12A	13	25284712	Missense_Mutation	SNP	T	TCGA-BP-5198-01A-01D-1429-08		25284712	89885166	49	24353											
OR4Q3	441669	broad.mit.edu;hgsc.bcm.edu	37	14	20216035	20216035	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr14:20216035G>T	ENST00000331723.1	+	1	449	c.449G>T	c.(448-450)tGg>tTg	p.W150L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W150L(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGCCTGCTGGTGTGGGGGT	0.498																																																1	Substitution - Missense(1)	kidney(1)											88	91	90					14																	20216035		2203	4298	6501	SO:0001583	missense	441669			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.449G>T	14.37:g.20216035G>T	ENSP00000330049:p.Trp150Leu		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.486596	0.44249	.	.	ENSG00000182652	ENST00000331723	T	0.58210	0.35	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	U	0.001819	T	0.73729	0.3624	M	0.85859	2.78	0.09310	N	0.999992	D	0.89917	1.0	D	0.80764	0.994	T	0.67421	-0.5675	10	0.87932	D	0	.	13.8329	0.63391	0.0:0.0:1.0:0.0	.	150	Q8NH05	OR4Q3_HUMAN	L	150	ENSP00000330049:W150L	ENSP00000330049:W150L	W	+	2	0	OR4Q3	19285875	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	1.386000	0.34419	2.105000	0.64084	0.406000	0.27484	TGG		0.498	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			T	20216035	G	T	20216035	3	4	445	1	0	0	0	0	1	0	0	0	11083	1357	47	4	451	4	OR4Q3	14	20216035	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08		20216035	87133505	50	24354											
PCNX	22990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	71462626	71462626	+	Silent	SNP	T	T	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr14:71462626T>C	ENST00000304743.2	+	8	3059	c.2613T>C	c.(2611-2613)agT>agC	p.S871S	PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Silent_p.S871S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	871						integral component of membrane (GO:0016021)		p.S871S(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCGGTAGCAGTTTGCACGATG	0.443																																																1	Substitution - coding silent(1)	kidney(1)											124	102	110					14																	71462626		2203	4300	6503	SO:0001819	synonymous_variant	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2613T>C	14.37:g.71462626T>C			B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	CCDS9806.1																																																																																				0.443	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		C	71462626	T	C	71462626	2	2	445	1	0	0	0	0	0	0	0	1	11593	1722	60	3		3	PCNX	14	71462626	Silent	SNP	T	TCGA-BP-5198-01A-01D-1429-08	51246591	71462626	35886914	51	24355											
SLC24A4	123041	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	92958092	92958092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr14:92958092C>T	ENST00000532405.1	+	15	1847	c.1621C>T	c.(1621-1623)Cag>Tag	p.Q541*	SLC24A4_ENST00000298877.1_Nonsense_Mutation_p.Q524*|SLC24A4_ENST00000531433.1_Nonsense_Mutation_p.Q522*|SLC24A4_ENST00000351924.5_Nonsense_Mutation_p.Q505*|SLC24A4_ENST00000393265.2_Nonsense_Mutation_p.Q477*			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	541					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.Q524*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTGGGGCCTGCAGACCATGGT	0.512																																					NSCLC(10;315 435 10383 28450 38798)											1	Substitution - Nonsense(1)	kidney(1)											186	159	168					14																	92958092		2203	4300	6503	SO:0001587	stop_gained	123041			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1621C>T	14.37:g.92958092C>T	ENSP00000431840:p.Gln541*		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Nonsense_Mutation	SNP	ENST00000532405.1	37	CCDS9903.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.299956|7.299956	0.98196|0.98196	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000525557|ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.70185|.	0.3195|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.63337|.	-0.6660|.	3|.	.|0.22109	.|T	.|0.4	.|.	19.5349|19.5349	0.95247|0.95247	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	406|477;522;541;524;505	.|.	.|ENSP00000298877:Q524X	A|Q	+|+	2|1	0|0	SLC24A4|SLC24A4	92027845|92027845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	7.726000|7.726000	0.84824|0.84824	2.618000|2.618000	0.88619|0.88619	0.561000|0.561000	0.74099|0.74099	GCA|CAG		0.512	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		T	92958092	C	T	92958092	4	4	445	1	0	0	0	0	0	1	0	0	14474	711	25	2	1628	2	SLC24A4	14	92958092	Nonsense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	21495466	92958092	14391448	52	24356											
RPAP1	26015	hgsc.bcm.edu;ucsc.edu	37	15	41819689	41819689	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr15:41819689delC	ENST00000304330.4	-	12	1659	c.1543delG	c.(1543-1545)gcafs	p.A515fs	RPAP1_ENST00000561603.1_Frame_Shift_Del_p.A515fs|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	515						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTCCTTTTTGCTTTTCCTGCT	0.537																																																0													94	93	94					15																	41819689		2203	4300	6503	SO:0001589	frameshift_variant	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1543delG	15.37:g.41819689delC	ENSP00000306123:p.Ala515fs		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Frame_Shift_Del	DEL	ENST00000304330.4	37	CCDS10079.1																																																																																				0.537	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		-	41819689	C	-	41819689	7	5	445	1	0	1	0	1	0	0	0	0	13547	797	28	0	2694	0	RPAP1	15	41819689	Frame_Shift_Del	DEL	C	TCGA-BP-5198-01A-01D-1429-08		41819689	60711703	53	24357											
FBN1	2200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48782117	48782117	+	Nonsense_Mutation	SNP	C	C	A	rs564713154		TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr15:48782117C>A	ENST00000316623.5	-	25	3468	c.3013G>T	c.(3013-3015)Gag>Tag	p.E1005*		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1005	TB 5.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1005*(2)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACAGCTCCTCGTACTCAGGA	0.537																																																2	Substitution - Nonsense(2)	lung(1)|kidney(1)											108	102	104					15																	48782117		2198	4296	6494	SO:0001587	stop_gained	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3013G>T	15.37:g.48782117C>A	ENSP00000325527:p.Glu1005*		B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	45	11.963042	0.99622	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.56	5.56	0.83823	.	0.257208	0.43110	D	0.000614	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	19.1065	0.93299	0.0:1.0:0.0:0.0	.	.	.	.	X	1005	.	ENSP00000325527:E1005X	E	-	1	0	FBN1	46569409	0.114000	0.22134	0.992000	0.48379	0.944000	0.59088	2.045000	0.41250	2.600000	0.87896	0.655000	0.94253	GAG		0.537	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			A	48782117	C	A	48782117	4	1	445	1	0	0	0	0	0	1	0	0	5704	893	31	4	5770	4	FBN1	15	48782117	Nonsense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	6962428	48782117	53749275	54	24358											
HERC1	8925	hgsc.bcm.edu;ucsc.edu	37	15	63955309	63955310	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr15:63955309_63955310insTT	ENST00000443617.2	-	44	8861_8862	c.8774_8775insAA	c.(8773-8775)aatfs	p.N2925fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2925					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTCATCTAAATTAAAGTCATA	0.455																																																0																																										SO:0001589	frameshift_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8773_8774dupAA	15.37:g.63955310_63955311dupTT	ENSP00000390158:p.Asn2925fs		Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	CCDS45277.1																																																																																				0.455	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		TT	63955310	-	TT	63955309	7	5	445	1	0	1	1	0	0	0	0	0	7059	98	4	0	5950	0	HERC1	15	63955309	Frame_Shift_Ins	INS	-	TCGA-BP-5198-01A-01D-1429-08	15173192	63955309	38576083	55	24359											
ZSCAN2	54993	broad.mit.edu	37	15	85147434	85147434	+	Silent	SNP	A	A	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr15:85147434A>T	ENST00000448803.2	+	2	568	c.276A>T	c.(274-276)gtA>gtT	p.V92V	ZSCAN2_ENST00000546148.1_Silent_p.V92V|ZSCAN2_ENST00000538076.1_Silent_p.V92V|ZSCAN2_ENST00000541040.1_Silent_p.V92V|ZSCAN2_ENST00000379358.3_Silent_p.V92V|ZSCAN2_ENST00000485222.2_Silent_p.V92V|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000327179.6_Silent_p.V92V|ZSCAN2_ENST00000334141.3_Silent_p.V92V	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	92	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V92V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GACCAGAGGTACACACCAAGG	0.642																																																1	Substitution - coding silent(1)	kidney(1)											41	37	39					15																	85147434		2203	4299	6502	SO:0001819	synonymous_variant	54993			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.276A>T	15.37:g.85147434A>T			A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	CCDS10329.2																																																																																				0.642	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		T	85147434	A	T	85147434	2	4	445	1	0	0	0	0	0	0	0	1	18236	378	14	5		5	ZSCAN2	15	85147434	Silent	SNP	A	TCGA-BP-5198-01A-01D-1429-08	21192125	85147434	17383958	56	24360											
GTF3C1	2975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27523128	27523128	+	Silent	SNP	T	T	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr16:27523128T>C	ENST00000356183.4	-	7	1083	c.1068A>G	c.(1066-1068)acA>acG	p.T356T	GTF3C1_ENST00000561623.1_Silent_p.T356T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	356					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.T356T(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTGGAGGCACTGTCTTGGAGA	0.527																																																1	Substitution - coding silent(1)	kidney(1)											214	159	178					16																	27523128		2197	4300	6497	SO:0001819	synonymous_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1068A>G	16.37:g.27523128T>C			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	CCDS32414.1																																																																																				0.527	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		C	27523128	T	C	27523128	2	2	445	1	0	0	0	0	0	0	0	1	6874	1567	55	3		3	GTF3C1	16	27523128	Silent	SNP	T	TCGA-BP-5198-01A-01D-1429-08		27523128	62831625	57	24361											
ZNF267	10308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31927436	31927436	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr16:31927436T>G	ENST00000300870.10	+	4	2075	c.1866T>G	c.(1864-1866)caT>caG	p.H622Q		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	622					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H622Q(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TTATTCAGCATCGGAGAATTC	0.423																																																1	Substitution - Missense(1)	kidney(1)											73	76	75					16																	31927436		2197	4300	6497	SO:0001583	missense	10308			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1866T>G	16.37:g.31927436T>G	ENSP00000300870:p.His622Gln		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.300781	0.40694	.	.	ENSG00000185947	ENST00000300870	D	0.86865	-2.18	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93406	0.7897	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90556	0.4512	9	0.72032	D	0.01	.	5.2175	0.15350	0.0:1.0E-4:0.0:0.9999	.	622	Q14586	ZN267_HUMAN	Q	622	ENSP00000300870:H622Q	ENSP00000300870:H622Q	H	+	3	2	ZNF267	31834937	0.000000	0.05858	0.217000	0.23759	0.201000	0.24016	-0.491000	0.06474	0.413000	0.25759	0.402000	0.26972	CAT		0.423	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		G	31927436	T	G	31927436	3	3	445	1	0	0	0	0	1	0	0	0	17811	1432	50	5	1880	5	ZNF267	16	31927436	Missense_Mutation	SNP	T	TCGA-BP-5198-01A-01D-1429-08	4404308	31927436	58427317	58	24362											
DUS2L	54920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68109279	68109279	+	Silent	SNP	C	C	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr16:68109279C>A	ENST00000565263.1	+	14	1448	c.954C>A	c.(952-954)gcC>gcA	p.A318A	DUS2_ENST00000432752.1_Silent_p.A283A|DUS2_ENST00000358896.6_Silent_p.A318A|RP11-67A1.2_ENST00000548144.1_RNA	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	318					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)	p.A318A(1)									GCCTTGGTGCCTTCTATGAGG	0.592																																																1	Substitution - coding silent(1)	kidney(1)											59	57	58					16																	68109279		2198	4300	6498	SO:0001819	synonymous_variant	54920				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.954C>A	16.37:g.68109279C>A			A8K3G3|Q4H4D9	Silent	SNP	ENST00000565263.1	37	CCDS10859.1																																																																																				0.592	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		A	68109279	C	A	68109279	2	1	445	1	0	0	0	0	0	0	0	1	4808	668	24	4		4	DUS2L	16	68109279	Silent	SNP	C	TCGA-BP-5198-01A-01D-1429-08	36181843	68109279	22245474	59	24363											
ANKRD11	29123	hgsc.bcm.edu;ucsc.edu	37	16	89350692	89350692	+	Frame_Shift_Del	DEL	G	G	-	rs143279397		TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr16:89350692delG	ENST00000301030.4	-	9	2718	c.2258delC	c.(2257-2259)ccgfs	p.P753fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.P753fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	753	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTCTTTCGGAGACTTTTC	0.388																																																0													64	67	66					16																	89350692		2198	4299	6497	SO:0001589	frameshift_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2258delC	16.37:g.89350692delG	ENSP00000301030:p.Pro753fs		Q6NTG1|Q6QMF8	Frame_Shift_Del	DEL	ENST00000301030.4	37	CCDS32513.1																																																																																				0.388	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		-	89350692	G	-	89350692	7	5	445	1	0	1	0	1	0	0	0	0	639	1116	39	0	5753	0	ANKRD11	16	89350692	Frame_Shift_Del	DEL	G	TCGA-BP-5198-01A-01D-1429-08	21241413	89350692	1004061	60	24364											
USP22	23326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	20911265	20911265	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr17:20911265C>T	ENST00000261497.4	-	9	1351	c.1148G>A	c.(1147-1149)tGc>tAc	p.C383Y	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Missense_Mutation_p.C371Y	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	383	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.C605Y(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GCAACCGCTGCACTTGATCTT	0.483																																																1	Substitution - Missense(1)	kidney(1)											94	88	90					17																	20911265		1936	4165	6101	SO:0001583	missense	23326			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.1148G>A	17.37:g.20911265C>T	ENSP00000261497:p.Cys383Tyr		A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	ENST00000261497.4	37	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694434	0.68386	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.27557	1.73;1.66	4.06	4.06	0.47325	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85881	0.1422	10	0.87932	D	0	.	16.615	0.84904	0.0:1.0:0.0:0.0	.	371;383	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	Y	451;371;383	ENSP00000440950:C371Y;ENSP00000261497:C383Y	ENSP00000261497:C383Y	C	-	2	0	USP22	20851857	1.000000	0.71417	0.546000	0.28166	0.541000	0.35023	6.963000	0.76055	1.996000	0.58369	0.655000	0.94253	TGC		0.483	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			T	20911265	C	T	20911265	3	4	445	1	0	0	0	0	1	0	0	0	17059	710	25	2	449	2	USP22	17	20911265	Missense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08		20911265	60283945	61	24365											
TMEM132E	124842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	32954049	32954049	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr17:32954049G>A	ENST00000321639.5	+	3	1029	c.701G>A	c.(700-702)aGc>aAc	p.S234N		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	234						integral component of membrane (GO:0016021)		p.S234N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCGCCCTCCAGCCCCAGCGTG	0.602																																																1	Substitution - Missense(1)	kidney(1)											58	58	58					17																	32954049		2203	4300	6503	SO:0001583	missense	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.701G>A	17.37:g.32954049G>A	ENSP00000316532:p.Ser234Asn		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962608	0.34659	.	.	ENSG00000181291	ENST00000321639	T	0.15718	2.4	5.35	1.49	0.22878	.	0.389693	0.25138	N	0.032847	T	0.05686	0.0149	N	0.08118	0	0.24694	N	0.9933	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.22109	T	0.4	-19.0483	0.515	0.00602	0.2027:0.2374:0.3192:0.2407	.	234	Q6IEE7	T132E_HUMAN	N	234	ENSP00000316532:S234N	ENSP00000316532:S234N	S	+	2	0	TMEM132E	29978162	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.036000	0.30228	1.198000	0.43158	0.442000	0.29010	AGC		0.602	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		A	32954049	G	A	32954049	3	1	445	1	0	0	0	0	1	0	0	0	16053	971	34	2	711	2	TMEM132E	17	32954049	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08	12042784	32954049	48241161	62	24366											
WIPF2	147179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38420931	38420931	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr17:38420931C>T	ENST00000323571.4	+	5	743	c.503C>T	c.(502-504)aCg>aTg	p.T168M	WIPF2_ENST00000583130.1_Missense_Mutation_p.T168M|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.T168M	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	168					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.T168M(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						ACCAGCAGTACGGGCATGAAG	0.647										HNSCC(43;0.11)																																						1	Substitution - Missense(1)	kidney(1)											79	80	80					17																	38420931		2203	4300	6503	SO:0001583	missense	147179			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.503C>T	17.37:g.38420931C>T	ENSP00000320924:p.Thr168Met		A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272971	0.59649	.	.	ENSG00000171475	ENST00000323571	T	0.32023	1.47	5.81	4.81	0.61882	.	0.546723	0.19394	N	0.115332	T	0.28962	0.0719	L	0.40543	1.245	0.80722	D	1	P	0.36660	0.564	B	0.34385	0.181	T	0.08827	-1.0703	10	0.66056	D	0.02	-0.2601	16.7385	0.85453	0.0:0.8707:0.1293:0.0	.	168	Q8TF74	WIPF2_HUMAN	M	168	ENSP00000320924:T168M	ENSP00000320924:T168M	T	+	2	0	WIPF2	35674457	0.781000	0.28676	0.633000	0.29310	0.938000	0.57974	2.753000	0.47524	1.412000	0.46977	0.549000	0.68633	ACG		0.647	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		T	38420931	C	T	38420931	3	4	445	1	0	0	0	0	1	0	0	0	17373	536	19	1	517	1	WIPF2	17	38420931	Missense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	5466882	38420931	42774279	63	24367											
SLC4A1	6521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42333125	42333125	+	Silent	SNP	G	G	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr17:42333125G>A	ENST00000262418.6	-	14	1871	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	AC003043.1_ENST00000597382.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	572	Involved in anion transport.|Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.L572L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAAGGGAGAGGAGGGCTGTGT	0.537																																																1	Substitution - coding silent(1)	kidney(1)											185	171	176					17																	42333125		2203	4300	6503	SO:0001819	synonymous_variant	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1716C>T	17.37:g.42333125G>A			G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	CCDS11481.1																																																																																				0.537	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		A	42333125	G	A	42333125	2	1	445	1	0	0	0	0	0	0	0	1	14656	1161	41	2		2	SLC4A1	17	42333125	Silent	SNP	G	TCGA-BP-5198-01A-01D-1429-08	3912194	42333125	38862085	64	24368											
POLG2	11232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62479086	62479086	+	Missense_Mutation	SNP	T	T	C	rs146731596		TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr17:62479086T>C	ENST00000539111.2	-	6	1208	c.1141A>G	c.(1141-1143)Att>Gtt	p.I381V	POLG2_ENST00000582501.1_5'UTR	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	381					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.I381V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCAACCTTAATAGGGGCTAAA	0.373																																					Colon(3;18 21 435 17652 48887)											1	Substitution - Missense(1)	kidney(1)						T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	69	69	69		1141	-4.3	0.3	17	dbSNP_134	69	0,8600		0,0,4300	no	missense	POLG2	NM_007215.3	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	381/486	62479086	1,13005	2203	4300	6503	SO:0001583	missense	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.1141A>G	17.37:g.62479086T>C	ENSP00000442563:p.Ile381Val		O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	T	7.056	0.565360	0.13498	2.27E-4	0.0	ENSG00000256525	ENST00000539111	D	0.85484	-1.99	5.91	-4.31	0.03698	Anticodon-binding (2);	0.311546	0.34025	N	0.004328	T	0.61009	0.2313	N	0.10618	0.005	0.09310	N	0.999999	B	0.09022	0.002	B	0.13407	0.009	T	0.56517	-0.7966	10	0.02654	T	1	-7.4278	11.247	0.49002	0.0:0.5158:0.1047:0.3795	.	381	Q9UHN1	DPOG2_HUMAN	V	381	ENSP00000442563:I381V	ENSP00000442563:I381V	I	-	1	0	POLG2	59909548	0.022000	0.18835	0.327000	0.25402	0.884000	0.51177	-0.086000	0.11233	-0.614000	0.05687	-0.923000	0.02734	ATT		0.373	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		C	62479086	T	C	62479086	3	2	445	1	0	0	0	0	1	0	0	0	12203	1406	49	3	328	3	POLG2	17	62479086	Missense_Mutation	SNP	T	TCGA-BP-5198-01A-01D-1429-08	20145961	62479086	18716124	65	24369											
NOL11	25926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65718733	65718733	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr17:65718733T>G	ENST00000253247.4	+	5	614	c.499T>G	c.(499-501)Tta>Gta	p.L167V	NOL11_ENST00000535137.1_Intron	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	167					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.L167V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACATCCTGTTTTAATTTTTAT	0.294																																																1	Substitution - Missense(1)	kidney(1)											38	41	40					17																	65718733		2199	4295	6494	SO:0001583	missense	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.499T>G	17.37:g.65718733T>G	ENSP00000253247:p.Leu167Val		B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	T	8.800	0.932577	0.18131	.	.	ENSG00000130935	ENST00000253247	T	0.21932	1.98	4.38	3.3	0.37823	.	0.082176	0.51477	D	0.000088	T	0.15696	0.0378	L	0.46157	1.445	0.80722	D	1	B	0.25390	0.125	B	0.20184	0.028	T	0.07366	-1.0776	10	0.32370	T	0.25	-13.0445	5.6028	0.17363	0.0:0.239:0.0:0.761	.	167	Q9H8H0	NOL11_HUMAN	V	167	ENSP00000253247:L167V	ENSP00000253247:L167V	L	+	1	2	NOL11	63149195	0.998000	0.40836	0.988000	0.46212	0.951000	0.60555	0.514000	0.22786	0.670000	0.31165	0.455000	0.32223	TTA		0.294	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		G	65718733	T	G	65718733	3	3	445	1	0	0	0	0	1	0	0	0	10523	1838	64	5	517	5	NOL11	17	65718733	Missense_Mutation	SNP	T	TCGA-BP-5198-01A-01D-1429-08	3239647	65718733	15476477	66	24370											
DOT1L	84444	broad.mit.edu;ucsc.edu	37	19	2229790	2229790	+	Nonstop_Mutation	SNP	A	A	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr19:2229790A>C	ENST00000398665.3	+	28	4649	c.4613A>C	c.(4612-4614)tAg>tCg	p.*1538S		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	0					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.*1538S(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGTAACTAGGATTTCTAC	0.677																																																1	Nonstop extension(1)	kidney(1)											96	103	101					19																	2229790		1997	4148	6145	SO:0001578	stop_lost	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4613A>C	19.37:g.2229790A>C	ENSP00000381657:p.*1538Serext*63		O60379|Q96JL1	Nonstop_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.505369	0.64410	.	.	ENSG00000104885	ENST00000398665	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5652	0.50800	1.0:0.0:0.0:0.0	.	.	.	.	S	1538	.	.	X	+	2	0	DOT1L	2180790	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.735000	0.68587	1.732000	0.51606	0.459000	0.35465	TAG		0.677	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		C	2229790	A	C	2229790	4	2	445	1	0	0	0	0	0	0	0	0	4711	433	15	5	4723	5	DOT1L	19	2229790	Nonstop_Mutation	SNP	A	TCGA-BP-5198-01A-01D-1429-08		2229790	56899193	67	24371											
CPAMD8	9002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17003921	17003921	+	IGR	SNP	A	A	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr19:17003921A>C	ENST00000248076.3	+	0	3473				CPAMD8_ENST00000597335.1_5'Flank|CPAMD8_ENST00000443236.1_Nonstop_Mutation_p.*1933E	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3						blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.*1933E(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ttgtaggattatctcaaGGTG	0.537																																																1	Nonstop extension(1)	kidney(1)											51	51	51					19																	17003921		1959	4155	6114	SO:0001628	intergenic_variant	27151			AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0			19.37:g.17003921A>C			O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	CCDS12350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.982|5.982	0.365178|0.365178	0.11352|0.11352	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	1.73|1.73	1.73|1.73	0.24493|0.24493	.|.	.|.	.|.	.|.	.|.	T|.	0.26048|.	0.0635|.	.|.	.|.	.|.	0.20975|0.20975	N|N	0.999814|0.999814	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20075|.	-1.0286|.	4|.	.|.	.|.	.|.	.|.	5.5354|5.5354	0.17007|0.17007	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	E|E	1943|1933	.|.	.|.	D|X	-|-	3|1	2|0	CPAMD8|CPAMD8	16864921|16864921	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.019000|0.019000	0.09904|0.09904	-0.047000|-0.047000	0.11963|0.11963	1.063000|1.063000	0.40649|0.40649	0.402000|0.402000	0.26972|0.26972	GAT|TAA		0.537	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			C	17003921	A	C	17003921	1	2	445	0	1	0	0	0	0	0	0	0	3797	462	16	5		5	CPAMD8	19	17003921	IGR	SNP	A	TCGA-BP-5198-01A-01D-1429-08	14774131	17003921	42125062	68	24372											
RTN2	6253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45997672	45997672	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr19:45997672T>C	ENST00000245923.4	-	4	801	c.566A>G	c.(565-567)gAc>gGc	p.D189G	PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000344680.4_Missense_Mutation_p.D189G|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	189					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.D189G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GAGTCGTAGGTCCAGTTCTGA	0.622																																																1	Substitution - Missense(1)	kidney(1)											63	57	59					19																	45997672		2203	4300	6503	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.566A>G	19.37:g.45997672T>C	ENSP00000245923:p.Asp189Gly		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.063959	0.55432	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.52526	0.7;0.66	5.43	4.41	0.53225	.	10.726000	0.00899	U	0.002325	T	0.40546	0.1121	N	0.24115	0.695	0.31714	N	0.639122	B;B	0.25272	0.122;0.001	B;B	0.28305	0.088;0.001	T	0.33803	-0.9854	10	0.42905	T	0.14	-11.3548	7.8592	0.29499	0.0:0.0941:0.0:0.9059	.	189;189	O75298-2;O75298	.;RTN2_HUMAN	G	189	ENSP00000345127:D189G;ENSP00000245923:D189G	ENSP00000245923:D189G	D	-	2	0	RTN2	50689512	0.014000	0.17966	0.839000	0.33178	0.472000	0.32918	0.838000	0.27572	0.906000	0.36621	0.460000	0.39030	GAC		0.622	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		C	45997672	T	C	45997672	3	2	445	1	0	0	0	0	1	0	0	0	13732	1667	58	3	1103	3	RTN2	19	45997672	Missense_Mutation	SNP	T	TCGA-BP-5198-01A-01D-1429-08	28993751	45997672	13131311	69	24373											
ZNF841	284371	broad.mit.edu	37	19	52570738	52570738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr19:52570738C>A	ENST00000426391.2	-	5	600	c.49G>T	c.(49-51)Gaa>Taa	p.E17*	ZNF841_ENST00000594295.1_Nonsense_Mutation_p.E133*|ZNF841_ENST00000359973.2_Nonsense_Mutation_p.E17*|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Nonsense_Mutation_p.E133*			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E133*(2)|p.E17*(1)		breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TTCCGGATTTCCCTGAAGTAA	0.368																																																3	Substitution - Nonsense(3)	kidney(3)											115	86	95					19																	52570738		692	1591	2283	SO:0001587	stop_gained	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.49G>T	19.37:g.52570738C>A	ENSP00000415453:p.Glu17*		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Nonsense_Mutation	SNP	ENST00000426391.2	37		.	.	.	.	.	.	.	.	.	.	C	38	6.636411	0.97722	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	.	.	.	2.88	-2.84	0.05751	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	4.3427	0.11117	0.0:0.2678:0.4426:0.2896	.	.	.	.	X	133;17;17	.	ENSP00000353060:E17X	E	-	1	0	ZNF841	57262550	0.000000	0.05858	0.005000	0.12908	0.079000	0.17450	0.104000	0.15313	-0.258000	0.09446	0.313000	0.20887	GAA		0.368	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		A	52570738	C	A	52570738	4	1	445	1	0	0	0	0	0	1	0	0	18194	864	30	4	2381	4	ZNF841	19	52570738	Nonsense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	6573066	52570738	6558245	70	24374											
ZNF616	90317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52618234	52618234	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr19:52618234C>T	ENST00000600228.1	-	4	2444	c.2183G>A	c.(2182-2184)cGg>cAg	p.R728Q	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	728					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R728Q(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGAAAACAACCGCCCAAAGGC	0.408																																																1	Substitution - Missense(1)	kidney(1)											134	134	134					19																	52618234		2203	4300	6503	SO:0001583	missense	90317			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2183G>A	19.37:g.52618234C>T	ENSP00000471000:p.Arg728Gln		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	2.699	-0.271409	0.05716	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.8	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	N	0.05259	-0.085	0.09310	N	1	P	0.38020	0.615	B	0.21151	0.033	T	0.29119	-1.0022	8	0.05959	T	0.93	.	5.4344	0.16472	0.0:0.346:0.0:0.654	.	728	Q08AN1	ZN616_HUMAN	Q	728	.	ENSP00000328722:R728Q	R	-	2	0	ZNF616	57310046	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.171000	0.00573	-0.580000	0.05944	-0.350000	0.07774	CGG		0.408	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		T	52618234	C	T	52618234	3	4	445	1	0	0	0	0	1	0	0	0	18046	652	23	1	166	1	ZNF616	19	52618234	Missense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	47496	52618234	6510749	71	24375											
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57325778	57325778	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr19:57325778G>C	ENST00000326441.9	-	10	4395	c.4032C>G	c.(4030-4032)agC>agG	p.S1344R	PEG3_ENST00000423103.2_Missense_Mutation_p.S1344R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S1218R|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S1220R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1344					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S1344R(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGAGGACTGTGCTATGAATAA	0.463																																																2	Substitution - Missense(2)	kidney(2)											71	69	70					19																	57325778		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4032C>G	19.37:g.57325778G>C	ENSP00000326581:p.Ser1344Arg		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	9.677	1.148287	0.21288	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.51325	0.71;0.71	4.48	3.45	0.39498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.100610	0.06942	N	0.813069	T	0.36908	0.0984	N	0.17901	0.54	.	.	.	B;P;P	0.38677	0.033;0.642;0.642	B;B;B	0.43360	0.043;0.417;0.339	T	0.36212	-0.9757	9	0.29301	T	0.29	-11.7891	5.5865	0.17277	0.0987:0.0:0.7055:0.1958	.	1220;1344;1279	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	R	1344	ENSP00000326581:S1344R;ENSP00000403051:S1344R	ENSP00000326581:S1344R	S	-	3	2	ZIM2	62017590	0.000000	0.05858	0.062000	0.19696	0.984000	0.73092	-0.093000	0.11111	1.480000	0.48289	0.655000	0.94253	AGC		0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			C	57325778	G	C	57325778	3	2	445	1	0	0	0	0	1	0	0	0	11722	1310	46	4	738	4	PEG3	19	57325778	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08	4707544	57325778	1803205	72	24376											
ZNFX1	57169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47887879	47887879	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr20:47887879G>C	ENST00000396105.1	-	3	716	c.470C>G	c.(469-471)cCt>cGt	p.P157R	ZNFX1_ENST00000371754.4_Missense_Mutation_p.P157R|ZNFX1_ENST00000371752.1_Missense_Mutation_p.P157R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	157							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P157R(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CACCTCAGAAGGGTCTTTCTG	0.488																																																2	Substitution - Missense(2)	kidney(2)											105	111	109					20																	47887879		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.470C>G	20.37:g.47887879G>C	ENSP00000379412:p.Pro157Arg		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969614	0.53614	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.97	5.97	0.96955	.	0.213266	0.49305	D	0.000143	T	0.72382	0.3453	M	0.63843	1.955	0.20489	N	0.999896	P	0.47191	0.891	P	0.47206	0.541	T	0.68849	-0.5300	10	0.62326	D	0.03	-6.2143	19.0026	0.92839	0.0:0.0:1.0:0.0	.	157	Q9P2E3	ZNFX1_HUMAN	R	157	ENSP00000360819:P157R;ENSP00000360817:P157R;ENSP00000379412:P157R;ENSP00000360809:P157R	ENSP00000360809:P157R	P	-	2	0	ZNFX1	47321286	1.000000	0.71417	0.958000	0.39756	0.989000	0.77384	7.941000	0.87700	2.836000	0.97738	0.655000	0.94253	CCT		0.488	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		C	47887879	G	C	47887879	3	2	445	1	0	0	0	0	1	0	0	0	18210	1000	35	4	5334	4	ZNFX1	20	47887879	Missense_Mutation	SNP	G	TCGA-BP-5198-01A-01D-1429-08		47887879	15137641	73	24377											
C20orf106	200232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	55101052	55101052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr20:55101052C>T	ENST00000371328.3	+	2	765	c.442C>T	c.(442-444)Cga>Tga	p.R148*	GCNT7_ENST00000243913.4_5'Flank|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	148						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R148*(1)									CCTCAGGCTTCGAAAGTCAGA	0.453																																																1	Substitution - Nonsense(1)	kidney(1)											113	103	106					20																	55101052		2203	4300	6503	SO:0001587	stop_gained	0			AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 106"	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.442C>T	20.37:g.55101052C>T	ENSP00000360379:p.Arg148*		Q05C43	Nonsense_Mutation	SNP	ENST00000371328.3	37	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737948	0.89573	.	.	ENSG00000124103	ENST00000371328	.	.	.	4.27	2.14	0.27477	.	0.483859	0.17167	N	0.184431	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-0.7587	4.3602	0.11199	0.2225:0.6567:0.0:0.1208	.	.	.	.	X	148	.	ENSP00000360379:R148X	R	+	1	2	C20orf106	54534459	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.299000	0.19138	0.774000	0.33427	0.411000	0.27672	CGA		0.453	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			T	55101052	C	T	55101052	4	4	445	1	0	0	0	0	0	1	0	0	2078	876	31	1	448	1	C20orf106	20	55101052	Nonsense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	7213173	55101052	7924468	74	24378											
PI4KA	5297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21075676	21075676	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr22:21075676C>T	ENST00000572273.1	-	43	5082	c.4852G>A	c.(4852-4854)Gca>Aca	p.A1618T	AC007308.6_ENST00000430719.1_RNA|PI4KA_ENST00000414196.3_Missense_Mutation_p.A428T|PI4KA_ENST00000255882.6_Missense_Mutation_p.A1676T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1618	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.A1618T(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTAGACGCTGCCCACAGAATA	0.532																																					GBM(136;1332 1831 3115 23601 50806)											2	Substitution - Missense(2)	kidney(2)											129	119	123					22																	21075676		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4852G>A	22.37:g.21075676C>T	ENSP00000458238:p.Ala1618Thr		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	C	33	5.270873	0.95429	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	T;T	0.62941	-0.01;-0.01	5.12	5.12	0.69794	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	N	0.20530	0.585	0.80722	D	1	P;D	0.56035	0.786;0.974	P;D	0.63033	0.752;0.91	T	0.59402	-0.7461	10	0.16420	T	0.52	-12.2673	18.5538	0.91075	0.0:1.0:0.0:0.0	.	11;1618	A8MTF1;P42356	.;PI4KA_HUMAN	T	1618;428;11	ENSP00000402981:A428T;ENSP00000382162:A11T	ENSP00000255882:A1618T	A	-	1	0	PI4KA	19405676	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.627000	0.83176	2.389000	0.81357	0.591000	0.81541	GCA		0.532	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		T	21075676	C	T	21075676	3	4	445	1	0	0	0	0	1	0	0	0	11875	739	26	2	1334	2	PI4KA	22	21075676	Missense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08		21075676	30228890	75	24379											
TMPRSS6	164656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	37462221	37462221	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5198-01A-01D-1429-08	TCGA-BP-5198-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac66d658-97d4-416b-8028-0077a1c8a01d	7c55a5d6-c39b-465f-9ff9-bdb754beea82	g.chr22:37462221C>G	ENST00000346753.3	-	18	2451	c.2335G>C	c.(2335-2337)Ggg>Cgg	p.G779R	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G770R|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.G792R|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G792R	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	779	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.G779R(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGACCAGCCCCGCCAGGAAC	0.622																																																1	Substitution - Missense(1)	kidney(1)											29	31	30					22																	37462221		2203	4297	6500	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2335G>C	22.37:g.37462221C>G	ENSP00000334962:p.Gly779Arg		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787037	0.90367	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.99545	-6.13;-6.13;-6.13;-6.13	4.46	4.46	0.54185	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.141721	0.46442	D	0.000299	D	0.99829	0.9923	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96385	0.9284	10	0.87932	D	0	.	17.4693	0.87641	0.0:1.0:0.0:0.0	.	792;779	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	R	792;779;770;792	ENSP00000371211:G792R;ENSP00000334962:G779R;ENSP00000385453:G770R;ENSP00000384964:G792R	ENSP00000334962:G779R	G	-	1	0	TMPRSS6	35792167	1.000000	0.71417	0.901000	0.35422	0.870000	0.49936	7.675000	0.84002	2.178000	0.69098	0.467000	0.42956	GGG		0.622	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		G	37462221	C	G	37462221	3	3	445	1	0	0	0	0	1	0	0	0	16256	623	22	4	104	4	TMPRSS6	22	37462221	Missense_Mutation	SNP	C	TCGA-BP-5198-01A-01D-1429-08	16386545	37462221	13842345	76	24380											
CLCN6	1185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu	37	1	11876723	11876724	+	Missense_Mutation	DNP	GT	GT	AC			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:11876723_11876724GT>AC	ENST00000346436.6	+	4	317_318	c.265_266GT>AC	c.(265-267)GTc>ACc	p.V89T	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Missense_Mutation_p.V89T|CLCN6_ENST00000376496.3_Missense_Mutation_p.V89T|CLCN6_ENST00000376497.3_Missense_Mutation_p.V89T|CLCN6_ENST00000376487.3_Missense_Mutation_p.V67T	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	89					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.V89I(1)|p.V89A(1)|p.V89>?(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCATTGGAGTCTGCACTGGC	0.54																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	Exception_encountered	1.37:g.11876723_11876724delinsAC	ENSP00000234488:p.Val89Thr		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1																																																																																				0.54	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		AC	11876724	GT	AC	11876723	3	1	446	1	0	0	0	0	1	0	0	0	3469	1029	36	2	279	2	CLCN6	1	11876723	Missense_Mutation	DNP	GT	TCGA-BP-5199-01A-01D-1429-08		11876723	237373898	1	24381											
ARID1A	8289	hgsc.bcm.edu	37	1	27106455	27106455	+	Silent	SNP	A	A	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:27106455A>C	ENST00000324856.7	+	20	6437	c.6066A>C	c.(6064-6066)ccA>ccC	p.P2022P	ARID1A_ENST00000457599.2_Silent_p.P1805P|ARID1A_ENST00000540690.1_Silent_p.P350P|ARID1A_ENST00000374152.2_Silent_p.P1639P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2022					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACAAGCACCCAGAACGGAAGC	0.547			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													119	108	112					1																	27106455		2203	4300	6503	SO:0001819	synonymous_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6066A>C	1.37:g.27106455A>C			D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	CCDS285.1																																																																																				0.547	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		C	27106455	A	C	27106455	2	2	446	1	0	0	0	0	0	0	0	1	913	175	7	5		5	ARID1A	1	27106455	Silent	SNP	A	TCGA-BP-5199-01A-01D-1429-08	15229732	27106455	222144166	2	24382	186	2									
ARID1A	8289	hgsc.bcm.edu;ucsc.edu	37	1	27106460	27106460	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:27106460delG	ENST00000324856.7	+	20	6442	c.6071delG	c.(6070-6072)cggfs	p.R2024fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.R1807fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.R352fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.R1641fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2024					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACCCAGAACGGAAGCAGGCA	0.552			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													122	112	116					1																	27106460		2203	4300	6503	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6071delG	1.37:g.27106460delG	ENSP00000320485:p.Arg2024fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																				0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		-	27106460	G	-	27106460	7	5	446	1	0	1	0	1	0	0	0	0	913	1116	39	0	6149	0	ARID1A	1	27106460	Frame_Shift_Del	DEL	G	TCGA-BP-5199-01A-01D-1429-08	5	27106460	222144161	3	24383	186	2									
MAP3K6	9064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27690800	27690800	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:27690800C>A	ENST00000493901.1	-	5	829	c.590G>T	c.(589-591)gGc>gTc	p.G197V	MAP3K6_ENST00000374040.3_Missense_Mutation_p.G189V|MAP3K6_ENST00000357582.2_Missense_Mutation_p.G197V	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	197					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)	p.G189V(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATCAGCCAGGCCCCGCAGAAG	0.672																																																1	Substitution - Missense(1)	kidney(1)											71	73	72					1																	27690800		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.590G>T	1.37:g.27690800C>A	ENSP00000419591:p.Gly197Val		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033212	0.75504	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.09445	2.98;2.98;2.98	5.82	5.82	0.92795	.	.	.	.	.	T	0.25082	0.0609	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.64830	0.993;0.994	P;D	0.63703	0.865;0.917	T	0.00244	-1.1883	9	0.26408	T	0.33	.	17.8623	0.88784	0.0:1.0:0.0:0.0	.	189;197	O95382-3;O95382	.;M3K6_HUMAN	V	189;197;197	ENSP00000363152:G189V;ENSP00000419591:G197V;ENSP00000350195:G197V	ENSP00000350195:G197V	G	-	2	0	MAP3K6	27563387	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.172000	0.65003	2.761000	0.94854	0.655000	0.94253	GGC		0.672	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		A	27690800	C	A	27690800	3	1	446	1	0	0	0	0	1	0	0	0	9256	739	26	4	3380	4	MAP3K6	1	27690800	Missense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08	584340	27690800	221559821	4	24384											
DNAJB4	11080	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78481811	78481811	+	Silent	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:78481811G>A	ENST00000370763.5	+	3	1151	c.894G>A	c.(892-894)ctG>ctA	p.L298L	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	298					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)	p.L298L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GATATGGGCTGCCATTTCCAA	0.388																																																1	Substitution - coding silent(1)	kidney(1)											117	117	117					1																	78481811		2203	4300	6503	SO:0001819	synonymous_variant	11080			U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"Heat shock proteins / DNAJ (HSP40)"	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.894G>A	1.37:g.78481811G>A			B2R824|Q13431	Silent	SNP	ENST00000370763.5	37	CCDS684.1																																																																																				0.388	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			A	78481811	G	A	78481811	2	1	446	1	0	0	0	0	0	0	0	1	4624	1306	46	2		2	DNAJB4	1	78481811	Silent	SNP	G	TCGA-BP-5199-01A-01D-1429-08	50791011	78481811	170768810	5	24385											
ZNF687	5298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151263418	151263418	+	IGR	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:151263418C>A	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_3'UTR			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.S1149S(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCTGGCTCCCTGAGCCGAC	0.622																																					Colon(154;765 1838 9854 28443 37492)											1	Substitution - coding silent(1)	kidney(1)											77	68	71					1																	151263418		2203	4300	6503	SO:0001628	intergenic_variant	57592			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151263418C>A			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37																																																																																					0.622	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		A	151263418	C	A	151263418	1	1	446	0	1	0	0	0	0	0	0	0	18097	610	22	4		4	ZNF687	1	151263418	IGR	SNP	C	TCGA-BP-5199-01A-01D-1429-08	72781607	151263418	97987203	6	24386											
KLHL20	27252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	173703125	173703125	+	Silent	SNP	A	A	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:173703125A>T	ENST00000209884.4	+	3	433	c.297A>T	c.(295-297)ggA>ggT	p.G99G	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	99	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.G99G(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGTTTACAGGAGAATTGGCAG	0.473																																					GBM(159;862 2695 6559 23041)											1	Substitution - coding silent(1)	kidney(1)											132	119	123					1																	173703125		2203	4300	6503	SO:0001819	synonymous_variant	27252			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.297A>T	1.37:g.173703125A>T			B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	CCDS1310.1																																																																																				0.473	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		T	173703125	A	T	173703125	2	4	446	1	0	0	0	0	0	0	0	1	8377	291	11	5		5	KLHL20	1	173703125	Silent	SNP	A	TCGA-BP-5199-01A-01D-1429-08	22439707	173703125	75547496	7	24387											
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186113746	186113746	+	Missense_Mutation	SNP	G	G	T	rs149329415		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:186113746G>T	ENST00000271588.4	+	91	14406	c.14177G>T	c.(14176-14178)gGc>gTc	p.G4726V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4726V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4726	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G4726V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAACAAGGGGCTGCTCCGAC	0.542																																																1	Substitution - Missense(1)	kidney(1)											148	139	142					1																	186113746		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14177G>T	1.37:g.186113746G>T	ENSP00000271588:p.Gly4726Val		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364815	0.24684	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.50001	0.76;0.76	5.82	5.82	0.92795	.	0.460312	0.26535	N	0.023821	T	0.19967	0.0480	N	0.02158	-0.66	0.30621	N	0.758472	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	10	0.19590	T	0.45	.	7.9584	0.30057	0.7951:0.1363:0.0686:0.0	.	4726	Q96RW7	HMCN1_HUMAN	V	4726	ENSP00000271588:G4726V;ENSP00000356462:G4726V	ENSP00000271588:G4726V	G	+	2	0	HMCN1	184380369	0.818000	0.29161	1.000000	0.80357	0.696000	0.40369	1.354000	0.34056	1.040000	0.40099	-0.269000	0.10298	GGC		0.542	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	186113746	G	T	186113746	3	4	446	1	0	0	0	0	1	0	0	0	7222	1203	42	4	14539	4	HMCN1	1	186113746	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	12410621	186113746	63136875	8	24388											
ASPM	259266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197091068	197091068	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:197091068T>C	ENST00000367409.4	-	16	4103	c.3847A>G	c.(3847-3849)Aaa>Gaa	p.K1283E	ASPM_ENST00000294732.7_Missense_Mutation_p.K1283E|ASPM_ENST00000367408.1_Missense_Mutation_p.K533E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1283					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.K1283E(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGATCTGTTTTTAGTTTATAT	0.313																																																1	Substitution - Missense(1)	kidney(1)											120	119	119					1																	197091068		2203	4300	6503	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3847A>G	1.37:g.197091068T>C	ENSP00000356379:p.Lys1283Glu		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.158140	0.38119	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	D;D;D	0.84070	-1.8;-1.8;-1.8	5.84	4.69	0.59074	.	0.299034	0.32769	N	0.005666	D	0.84552	0.5497	L	0.53249	1.67	0.09310	N	1	P;P	0.51933	0.657;0.949	B;P	0.52189	0.197;0.692	T	0.77747	-0.2472	10	0.62326	D	0.03	.	12.578	0.56375	0.0:0.0:0.1385:0.8615	.	1283;1283	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	E	1283;1283;533	ENSP00000356379:K1283E;ENSP00000294732:K1283E;ENSP00000356378:K533E	ENSP00000294732:K1283E	K	-	1	0	ASPM	195357691	0.993000	0.37304	0.006000	0.13384	0.657000	0.38888	4.038000	0.57318	1.001000	0.39076	0.533000	0.62120	AAA		0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		C	197091068	T	C	197091068	3	2	446	1	0	0	0	0	1	0	0	0	1056	1850	64	3	6638	3	ASPM	1	197091068	Missense_Mutation	SNP	T	TCGA-BP-5199-01A-01D-1429-08	10977322	197091068	52159553	9	24389	187	2									
ASPM	259266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197091070	197091070	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:197091070A>G	ENST00000367409.4	-	16	4101	c.3845T>C	c.(3844-3846)cTa>cCa	p.L1282P	ASPM_ENST00000294732.7_Missense_Mutation_p.L1282P|ASPM_ENST00000367408.1_Missense_Mutation_p.L532P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1282					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.L1282P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATCTGTTTTTAGTTTATATTT	0.318																																																1	Substitution - Missense(1)	kidney(1)											119	118	118					1																	197091070		2203	4300	6503	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3845T>C	1.37:g.197091070A>G	ENSP00000356379:p.Leu1282Pro		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621270	0.46736	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	D;D;D	0.83335	-1.71;-1.71;-1.71	5.84	3.51	0.40186	.	0.336929	0.24649	N	0.036738	T	0.82006	0.4943	L	0.50993	1.605	0.27753	N	0.944071	D;D	0.57899	0.981;0.97	P;P	0.52267	0.694;0.688	T	0.74581	-0.3618	10	0.56958	D	0.05	.	7.3485	0.26676	0.8018:0.0:0.0696:0.1286	.	1282;1282	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	P	1282;1282;532	ENSP00000356379:L1282P;ENSP00000294732:L1282P;ENSP00000356378:L532P	ENSP00000294732:L1282P	L	-	2	0	ASPM	195357693	0.999000	0.42202	0.002000	0.10522	0.641000	0.38312	6.474000	0.73578	0.462000	0.27095	-0.250000	0.11733	CTA		0.318	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		G	197091070	A	G	197091070	3	3	446	1	0	0	0	0	1	0	0	0	1056	420	15	3	6640	3	ASPM	1	197091070	Missense_Mutation	SNP	A	TCGA-BP-5199-01A-01D-1429-08	2	197091070	52159551	10	24390	187	2									
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201029896	201029896	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:201029896T>G	ENST00000362061.3	-	26	3530	c.3304A>C	c.(3304-3306)Att>Ctt	p.I1102L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I1102L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1102					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I1102L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTTTGGGAATGTAGCACCTC	0.532																																																1	Substitution - Missense(1)	kidney(1)											290	281	284					1																	201029896		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3304A>C	1.37:g.201029896T>G	ENSP00000355192:p.Ile1102Leu		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518688	0.85495	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96104	-3.91;-3.83	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.87180	2.865	0.54753	D	0.999989	D	0.63046	0.992	D	0.77557	0.99	D	0.98773	1.0729	10	0.87932	D	0	.	14.9443	0.71016	0.0:0.0:0.0:1.0	.	1102	Q13698	CAC1S_HUMAN	L	1102	ENSP00000355192:I1102L;ENSP00000356307:I1102L	ENSP00000355192:I1102L	I	-	1	0	CACNA1S	199296519	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	8.000000	0.88501	2.057000	0.61298	0.533000	0.62120	ATT		0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		G	201029896	T	G	201029896	3	3	446	1	0	0	0	0	1	0	0	0	2549	1464	51	5	2393	5	CACNA1S	1	201029896	Missense_Mutation	SNP	T	TCGA-BP-5199-01A-01D-1429-08	3938826	201029896	48220725	11	24391											
PQLC3	130814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11312070	11312070	+	Missense_Mutation	SNP	G	G	A	rs546479821		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr2:11312070G>A	ENST00000295083.3	+	5	549	c.374G>A	c.(373-375)aGc>aAc	p.S125N	PQLC3_ENST00000402361.1_Intron|PQLC3_ENST00000441908.2_Missense_Mutation_p.S125N|PQLC3_ENST00000476787.1_3'UTR	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	125						integral component of membrane (GO:0016021)		p.S125N(1)		kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACTTTCATCAGCGCGGCCAGT	0.483																																																1	Substitution - Missense(1)	kidney(1)											97	95	96					2																	11312070		2203	4300	6503	SO:0001583	missense	130814			BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 22"	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.374G>A	2.37:g.11312070G>A	ENSP00000295083:p.Ser125Asn		B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	CCDS1679.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129025	0.77549	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908	D;T;D	0.87650	-2.28;-0.64;-2.28	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.93621	0.7963	M	0.82517	2.595	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.81914	0.972;0.995	D	0.91614	0.5305	10	0.27785	T	0.31	-19.7704	18.1662	0.89727	0.0:0.0:1.0:0.0	.	125;125	B4DWA4;Q8N755	.;PQLC3_HUMAN	N	148;125;125	ENSP00000410430:S148N;ENSP00000295083:S125N;ENSP00000406148:S125N	ENSP00000295083:S125N	S	+	2	0	PQLC3	11229521	1.000000	0.71417	0.966000	0.40874	0.747000	0.42532	7.749000	0.85096	2.824000	0.97209	0.655000	0.94253	AGC		0.483	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391		A	11312070	G	A	11312070	3	1	446	1	0	0	0	0	1	0	0	0	12425	971	34	2	392	2	PQLC3	2	11312070	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08		11312070	231887303	12	24392											
ZNF513	130557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27601531	27601531	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr2:27601531G>A	ENST00000323703.6	-	3	800	c.602C>T	c.(601-603)aCt>aTt	p.T201I	ZNF513_ENST00000407879.1_Missense_Mutation_p.T139I|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	201					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.T201I(2)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTCGCCAGTGTGGGTGCG	0.667																																																2	Substitution - Missense(2)	kidney(1)|endometrium(1)											144	114	124					2																	27601531		2203	4300	6503	SO:0001583	missense	130557			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"Zinc fingers, C2H2-type"	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.602C>T	2.37:g.27601531G>A	ENSP00000318373:p.Thr201Ile		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175761	0.57692	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.25749	1.78;1.78	4.76	4.76	0.60689	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000057	T	0.52141	0.1716	M	0.74546	2.27	0.51233	D	0.999918	D	0.89917	1.0	D	0.91635	0.999	T	0.56619	-0.7949	10	0.72032	D	0.01	-9.4038	16.5112	0.84286	0.0:0.0:1.0:0.0	.	201	Q8N8E2	ZN513_HUMAN	I	201;139	ENSP00000318373:T201I;ENSP00000384874:T139I	ENSP00000318373:T201I	T	-	2	0	ZNF513	27455035	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	7.640000	0.83355	2.472000	0.83506	0.655000	0.94253	ACT		0.667	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		A	27601531	G	A	27601531	3	1	446	1	0	0	0	0	1	0	0	0	17963	1029	36	2	1031	2	ZNF513	2	27601531	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	16289461	27601531	215597842	13	24393											
VWA3B	200403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	98914472	98914472	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr2:98914472C>A	ENST00000477737.1	+	24	3464	c.3260C>A	c.(3259-3261)gCc>gAc	p.A1087D	AC092675.1_ENST00000401293.1_RNA|VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1087								p.A1087D(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTGGGGGGCGCCATGCCCTGC	0.587																																																1	Substitution - Missense(1)	kidney(1)											63	68	67					2																	98914472		2098	4196	6294	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3260C>A	2.37:g.98914472C>A	ENSP00000417955:p.Ala1087Asp		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254000	0.80135	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.25414	1.8	4.93	4.93	0.64822	.	0.000000	0.32548	U	0.005960	T	0.47728	0.1461	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.916	T	0.43669	-0.9377	10	0.87932	D	0	.	15.5072	0.75750	0.0:1.0:0.0:0.0	.	479;1087	Q502W6-5;Q502W6	.;VWA3B_HUMAN	D	1087;209	ENSP00000417955:A1087D	ENSP00000351009:A209D	A	+	2	0	VWA3B	98280904	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.520000	0.60524	2.736000	0.93811	0.655000	0.94253	GCC		0.587	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		A	98914472	C	A	98914472	3	1	446	1	0	0	0	0	1	0	0	0	17246	739	26	4	3350	4	VWA3B	2	98914472	Missense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08	71312941	98914472	144284901	14	24394											
MGAT5	4249	broad.mit.edu;hgsc.bcm.edu	37	2	135076310	135076310	+	Splice_Site	SNP	G	G	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr2:135076310G>C	ENST00000409645.1	+	5	825	c.573G>C	c.(571-573)gaG>gaC	p.E191D	MGAT5_ENST00000281923.2_Splice_Site_p.E191D			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	191					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.E191D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ACCTCAGTGAGGTGAGTAGCT	0.448																																																1	Substitution - Missense(1)	kidney(1)											130	126	128					2																	135076310		2203	4300	6503	SO:0001630	splice_region_variant	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.573+1G>C	2.37:g.135076310G>C			D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171553	0.78452	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.54	5.54	0.83059	.	0.049932	0.85682	D	0.000000	T	0.79370	0.4434	M	0.76170	2.325	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	T	0.81013	-0.1125	9	0.72032	D	0.01	-29.0599	17.6539	0.88172	0.0:0.0:1.0:0.0	.	191	Q09328	MGT5A_HUMAN	D	191	.	ENSP00000281923:E191D	E	+	3	2	MGAT5	134792780	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.444000	0.97578	2.609000	0.88269	0.655000	0.94253	GAG		0.448	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410	Missense_Mutation	C	135076310	G	C	135076310	5	2	446	1	0	0	0	0	0	0	1	0	9550	1014	35	4	587	4	MGAT5	2	135076310	Splice_Site	SNP	G	TCGA-BP-5199-01A-01D-1429-08	36161838	135076310	108123063	15	24395											
VHL	7428	hgsc.bcm.edu	37	3	10183840	10183844	+	Frame_Shift_Del	DEL	TGGCA	TGGCA	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	TGGCA	TGGCA	TGGCA	-	TGGCA	TGGCA	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr3:10183840_10183844delTGGCA	ENST00000256474.2	+	1	1149_1153	c.309_313delTGGCA	c.(307-315)cctggcacgfs	p.GT104fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.GT104fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	104	Involved in binding to CCT complex.		G -> A (in cerebellar hemangioblastoma). {ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G104fs*55(6)|p.G104fs*23(2)|p.P103fs*27(1)|p.G104fs*22(1)|p.G104fs*52(1)|p.P102fs*27(1)|p.T105P(1)|p.T100_G106>S(1)|p.Y98fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCTGCCGCCTGGCACGGGCCGCCG	0.698		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	15	Deletion - Frameshift(13)|Substitution - Missense(1)|Complex - deletion inframe(1)	kidney(15)	GRCh37	CD941808|CM023995|CM057218|CM982003|HD971483	VHL	D|M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.309_313delTGGCA	3.37:g.10183840_10183844delTGGCA	ENSP00000256474:p.Gly104fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.698	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183844	TGGCA	-	10183840	7	5	446	1	0	1	0	1	0	0	0	0	17167	1567	55	0	311	0	VHL	3	10183840	Frame_Shift_Del	DEL	TGGCA	TCGA-BP-5199-01A-01D-1429-08		10183840	187838590	16	24396											
C4orf21	55345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	113510905	113510905	+	Silent	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr4:113510905A>G	ENST00000505019.1	-	11	3227	c.3102T>C	c.(3100-3102)gaT>gaC	p.D1034D	C4orf21_ENST00000309071.5_Silent_p.D1034D	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1034						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.D1034D(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATGAAGATCATCAGGTAAAG	0.363																																																2	Substitution - coding silent(2)	kidney(2)											106	108	107					4																	113510905		2203	4300	6503	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.3102T>C	4.37:g.113510905A>G			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37																																																																																					0.363	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			G	113510905	A	G	113510905	2	3	446	1	0	0	0	0	0	0	0	1	2256	214	8	3		3	C4orf21	4	113510905	Silent	SNP	A	TCGA-BP-5199-01A-01D-1429-08		113510905	77643371	17	24397											
C4orf21	55345	hgsc.bcm.edu;ucsc.edu	37	4	113540563	113540564	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr4:113540563_113540564insA	ENST00000505019.1	-	6	759_760	c.634_635insT	c.(634-636)tatfs	p.Y212fs	C4orf21_ENST00000309071.5_Frame_Shift_Ins_p.Y212fs|C4orf21_ENST00000445203.2_Frame_Shift_Ins_p.Y181fs	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		212						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGAGCAAAAATAATTTTCTTCA	0.391																																																0																																										SO:0001589	frameshift_variant	55345																														ENST00000505019.1:c.635dupT	4.37:g.113540565_113540565dupA	ENSP00000424737:p.Tyr212fs		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Frame_Shift_Ins	INS	ENST00000505019.1	37																																																																																					0.391	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			A	113540564	-	A	113540563	7	5	446	1	0	1	1	0	0	0	0	0	2256	1406	49	0	5771	0	C4orf21	4	113540563	Frame_Shift_Ins	INS	-	TCGA-BP-5199-01A-01D-1429-08	29658	113540563	77613713	18	24398											
TRIP13	9319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	916051	916051	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr5:916051G>C	ENST00000166345.3	+	12	1522	c.1166G>C	c.(1165-1167)aGa>aCa	p.R389T	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	389					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)	p.R389T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CGGGTCCTGAGAAAACTCCCC	0.542																																																1	Substitution - Missense(1)	kidney(1)											156	167	163					5																	916051		2203	4300	6503	SO:0001583	missense	9319			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.1166G>C	5.37:g.916051G>C	ENSP00000166345:p.Arg389Thr		C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.563598	0.86335	.	.	ENSG00000071539	ENST00000166345	D	0.95238	-3.65	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.97241	0.9098	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.96729	0.9538	10	0.38643	T	0.18	-16.2213	17.703	0.88301	0.0:0.0:1.0:0.0	.	389	Q15645	PCH2_HUMAN	T	389	ENSP00000166345:R389T	ENSP00000166345:R389T	R	+	2	0	TRIP13	969051	1.000000	0.71417	0.995000	0.50966	0.769000	0.43574	7.925000	0.87563	2.533000	0.85409	0.561000	0.74099	AGA		0.542	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		C	916051	G	C	916051	3	2	446	1	0	0	0	0	1	0	0	0	16562	942	33	4	1216	4	TRIP13	5	916051	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08		916051	179999209	19	24399											
RASA1	5921	hgsc.bcm.edu;ucsc.edu	37	5	86627234	86627238	+	Frame_Shift_Del	DEL	TTATC	TTATC	-	rs377014568	byFrequency	TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	TTATC	TTATC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr5:86627234_86627238delTTATC	ENST00000274376.6	+	2	1173_1177	c.609_613delTTATC	c.(607-615)agttatcttfs	p.YL204fs	RASA1_ENST00000512763.1_Frame_Shift_Del_p.YL37fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.YL38fs|RASA1_ENST00000456692.2_Frame_Shift_Del_p.YL27fs	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	204	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGTCTGGCAGTTATCTTATAAGAGA	0.415																																																0			GRCh37	CD084202	RASA1	D																																				SO:0001589	frameshift_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.609_613delTTATC	5.37:g.86627234_86627238delTTATC	ENSP00000274376:p.Tyr204fs		B2R6W3|Q9UDI1	Frame_Shift_Del	DEL	ENST00000274376.6	37	CCDS34200.1																																																																																				0.415	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		-	86627238	TTATC	-	86627234	7	5	446	1	0	1	0	1	0	0	0	0	13066	1722	60	0	627	0	RASA1	5	86627234	Frame_Shift_Del	DEL	TTATC	TCGA-BP-5199-01A-01D-1429-08	85711183	86627234	94288026	20	24400											
PCDHA9	9752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140229361	140229361	+	Silent	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr5:140229361G>A	ENST00000532602.1	+	1	2314	c.1281G>A	c.(1279-1281)gcG>gcA	p.A427A	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.A427A|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	427	Cadherin 4. {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)	p.A427A(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTACCGCGCGGGACGGGG	0.627																																					Melanoma(55;1800 1972 14909)											2	Substitution - coding silent(2)	kidney(2)											83	81	82					5																	140229361		2196	4271	6467	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1281G>A	5.37:g.140229361G>A			O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.627	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		A	140229361	G	A	140229361	2	1	446	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHA9	5	140229361	Silent	SNP	G	TCGA-BP-5199-01A-01D-1429-08	53602127	140229361	40685899	21	24401											
FAT2	2196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150905349	150905349	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr5:150905349A>G	ENST00000261800.5	-	17	10498	c.10486T>C	c.(10486-10488)Tgg>Cgg	p.W3496R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3496	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W3496R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTGATACCATTCCTGAGCC	0.567																																																1	Substitution - Missense(1)	kidney(1)											78	69	72					5																	150905349		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10486T>C	5.37:g.150905349A>G	ENSP00000261800:p.Trp3496Arg		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.15|10.15	1.270668|1.270668	0.23221|0.23221	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.49432	.|0.78	5.11|5.11	-1.75|-1.75	0.08031|0.08031	.|Cadherin (4);Cadherin-like (1);	.|0.737979	.|0.12541	.|N	.|0.459883	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.01091|0.01091	-1.02|-1.02	0.30208|0.30208	N|N	0.798013|0.798013	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.08055	.|0.003;0.002	T|T	0.30149|0.30149	-0.9988|-0.9988	5|10	.|0.16420	.|T	.|0.52	.|.	12.7044|12.7044	0.57051|0.57051	0.2242:0.0:0.7758:0.0|0.2242:0.0:0.7758:0.0	.|.	.|3496;687	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	T|R	354|3496	.|ENSP00000261800:W3496R	.|ENSP00000261800:W3496R	M|W	-|-	2|1	0|0	FAT2|FAT2	150885542|150885542	0.846000|0.846000	0.29590|0.29590	0.927000|0.927000	0.36925|0.36925	0.974000|0.974000	0.67602|0.67602	1.322000|1.322000	0.33689|0.33689	-0.194000|-0.194000	0.10399|0.10399	0.455000|0.455000	0.32223|0.32223	ATG|TGG		0.567	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		G	150905349	A	G	150905349	3	3	446	1	0	0	0	0	1	0	0	0	5692	217	8	3	2591	3	FAT2	5	150905349	Missense_Mutation	SNP	A	TCGA-BP-5199-01A-01D-1429-08	10675988	150905349	30009911	22	24402											
MAK	4117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10802230	10802230	+	Silent	SNP	A	A	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr6:10802230A>T	ENST00000313243.2	-	8	1108	c.726T>A	c.(724-726)gtT>gtA	p.V242V	MAK_ENST00000536370.1_Silent_p.V242V|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_Silent_p.V242V|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Silent_p.V242V|MAK_ENST00000354489.2_Silent_p.V242V			P20794	MAK_HUMAN	male germ cell-associated kinase	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)	p.V242V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGTTTATAGGAACACACTGGG	0.443																																																1	Substitution - coding silent(1)	kidney(1)											90	92	91					6																	10802230		2203	4300	6503	SO:0001819	synonymous_variant	4117				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.726T>A	6.37:g.10802230A>T			F1T0K6|G1FL29|Q547D0|Q9NUH7	Silent	SNP	ENST00000313243.2	37	CCDS4516.1																																																																																				0.443	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		T	10802230	A	T	10802230	2	4	446	1	0	0	0	0	0	0	0	1	9199	233	9	5		5	MAK	6	10802230	Silent	SNP	A	TCGA-BP-5199-01A-01D-1429-08		10802230	160312837	23	24403											
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43305844	43305844	+	Silent	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr6:43305844C>T	ENST00000361428.2	-	10	5969	c.5892G>A	c.(5890-5892)aaG>aaA	p.K1964K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1964					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K1964K(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTCTGGCCTCTTCTTGTTTT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											101	103	102					6																	43305844		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5892G>A	6.37:g.43305844C>T			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	CCDS4895.2																																																																																				0.428	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		T	43305844	C	T	43305844	2	4	446	1	0	0	0	0	0	0	0	1	17841	912	32	2		2	ZNF318	6	43305844	Silent	SNP	C	TCGA-BP-5199-01A-01D-1429-08	32503614	43305844	127809223	24	24404											
SDK1	221935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	4014046	4014046	+	Silent	SNP	G	G	A	rs375345968		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:4014046G>A	ENST00000404826.2	+	13	2002	c.1863G>A	c.(1861-1863)acG>acA	p.T621T	SDK1_ENST00000389531.3_Silent_p.T621T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	621	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T621T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATCGAGCACGTCTAGGATCG	0.547																																																1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	126	102	110		1863	-7.6	0.1	7		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		621/2214	4014046	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1863G>A	7.37:g.4014046G>A			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																				0.547	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4014046	G	A	4014046	2	1	446	1	0	0	0	0	0	0	0	1	13974	1132	40	1		1	SDK1	7	4014046	Silent	SNP	G	TCGA-BP-5199-01A-01D-1429-08		4014046	155124617	25	24405											
TNRC18	84629	broad.mit.edu	37	7	5352561	5352563	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:5352561_5352563delGAG	ENST00000430969.1	-	27	8307_8309	c.7959_7961delCTC	c.(7957-7962)tcctct>tct	p.2653_2654SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2653_2654SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2653	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		ggacgaggaagaggaggaggagg	0.606																																																0										11,3879		0,11,1934						-5	0			7	26,7484		1,24,3730	no	coding	TNRC18	NM_001080495.2		1,35,5664	A1A1,A1R,RR		0.3462,0.2828,0.3246				37,11363				SO:0001651	inframe_deletion	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7959_7961delCTC	7.37:g.5352570_5352572delGAG	ENSP00000395538:p.Ser2671del		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	CCDS47534.1																																																																																				0.606	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				-	5352563	GAG	-	5352561	7	5	446	1	0	1	0	1	0	0	0	0	16344	942	33	0	961	0	TNRC18	7	5352561	In_Frame_Del	DEL	GAG	TCGA-BP-5199-01A-01D-1429-08	1338515	5352561	153786102	26	24406											
WBSCR17	64409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	70886059	70886059	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:70886059G>T	ENST00000333538.5	+	5	1564	c.930G>T	c.(928-930)tgG>tgT	p.W310C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	310					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.W310C(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAAAAGACTGGTGGGACGCCG	0.582																																																1	Substitution - Missense(1)	kidney(1)											65	67	66					7																	70886059		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.930G>T	7.37:g.70886059G>T	ENSP00000329654:p.Trp310Cys		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402903	0.83230	.	.	ENSG00000185274	ENST00000333538	T	0.61274	0.12	5.32	5.32	0.75619	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79843	-0.1632	10	0.66056	D	0.02	.	18.0015	0.89199	0.0:0.0:1.0:0.0	.	310	Q6IS24	GLTL3_HUMAN	C	310	ENSP00000329654:W310C	ENSP00000329654:W310C	W	+	3	0	WBSCR17	70523995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.490000	0.84030	0.557000	0.71058	TGG		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		T	70886059	G	T	70886059	3	4	446	1	0	0	0	0	1	0	0	0	17269	1270	44	4	948	4	WBSCR17	7	70886059	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	65533498	70886059	88252604	27	24407											
ZNF3	7551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99669413	99669413	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:99669413C>T	ENST00000424697.1	-	6	1000	c.694G>A	c.(694-696)Gag>Aag	p.E232K	ZNF3_ENST00000299667.4_Missense_Mutation_p.E232K|ZNF3_ENST00000303915.6_Missense_Mutation_p.E232K|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	232					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.E232K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTCCCACACTCATTACATTCA	0.433																																																1	Substitution - Missense(1)	kidney(1)											76	85	82					7																	99669413		2203	4300	6503	SO:0001583	missense	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.694G>A	7.37:g.99669413C>T	ENSP00000415358:p.Glu232Lys		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252671	0.59212	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.07327	3.2;3.2;3.2	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000049	T	0.16769	0.0403	L	0.28344	0.845	0.09310	N	1	D;D	0.56746	0.962;0.977	P;D	0.65684	0.702;0.937	T	0.02214	-1.1194	10	0.87932	D	0	-25.5551	15.3141	0.74059	0.0:1.0:0.0:0.0	.	215;232	B3KRP4;P17036	.;ZNF3_HUMAN	K	232	ENSP00000415358:E232K;ENSP00000306372:E232K;ENSP00000299667:E232K	ENSP00000299667:E232K	E	-	1	0	ZNF3	99507349	0.002000	0.14202	0.990000	0.47175	0.993000	0.82548	0.506000	0.22658	2.568000	0.86640	0.655000	0.94253	GAG		0.433	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		T	99669413	C	T	99669413	3	4	446	1	0	0	0	0	1	0	0	0	17834	835	29	2	779	2	ZNF3	7	99669413	Missense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08	28783354	99669413	59469250	28	24408											
TBXAS1	6916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	139529248	139529248	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:139529248T>C	ENST00000455353.1	+	1	196	c.59T>C	c.(58-60)cTg>cCg	p.L20P	TBXAS1_ENST00000448866.1_Missense_Mutation_p.L20P|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L20P|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L20P|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L21P|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L21P|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L21P|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L21P|TBXAS1_ENST00000263552.6_Missense_Mutation_p.L21P|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L20P			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	20					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.L21P(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	ACGGTGGCCCTGTCAGTGGCT	0.572																																																2	Substitution - Missense(2)	kidney(2)											69	61	64					7																	139529248		2203	4300	6503	SO:0001583	missense	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.59T>C	7.37:g.139529248T>C	ENSP00000391567:p.Leu20Pro		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37		.	.	.	.	.	.	.	.	.	.	T	14.06	2.422851	0.43020	.	.	ENSG00000059377	ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63	5.17	5.17	0.71159	.	0.082376	0.50627	D	0.000116	T	0.20210	0.0486	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.994;0.999;0.999	D;D;D;P;D;D	0.85130	0.997;0.972;0.997;0.855;0.997;0.997	T	0.05517	-1.0880	10	0.72032	D	0.01	.	11.3244	0.49440	0.0:0.0:0.0:1.0	.	21;21;21;21;21;20	B7Z6W1;E7EP08;B4E0M5;E7EMU9;Q53F23;P24557	.;.;.;.;.;THAS_HUMAN	P	21;20;20;21;21;21;20;20;20;20;21	ENSP00000263552:L21P;ENSP00000388612:L20P;ENSP00000338087:L20P;ENSP00000389414:L21P;ENSP00000392361:L21P;ENSP00000392702:L21P;ENSP00000402536:L20P;ENSP00000391567:L20P;ENSP00000411274:L20P;ENSP00000411326:L20P;ENSP00000444626:L21P	ENSP00000263552:L21P	L	+	2	0	TBXAS1	139175717	0.672000	0.27530	0.887000	0.34795	0.187000	0.23431	3.432000	0.52824	2.161000	0.67846	0.528000	0.53228	CTG		0.572	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			C	139529248	T	C	139529248	3	2	446	1	0	0	0	0	1	0	0	0	15669	1580	55	3	64	3	TBXAS1	7	139529248	Missense_Mutation	SNP	T	TCGA-BP-5199-01A-01D-1429-08	39859835	139529248	19609415	29	24409											
GIMAP6	474344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150325294	150325294	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:150325294T>C	ENST00000328902.5	-	3	608	c.392A>G	c.(391-393)cAa>cGa	p.Q131R	GIMAP6_ENST00000493969.1_Silent_p.T56T	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	131	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.Q131R(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGGCCCAGTTGTGTCACCAG	0.632																																																1	Substitution - Missense(1)	kidney(1)											56	58	57					7																	150325294		2203	4300	6503	SO:0001583	missense	474344			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.392A>G	7.37:g.150325294T>C	ENSP00000330374:p.Gln131Arg		C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147488	0.37923	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.32753	1.44	4.07	4.07	0.47477	AIG1 (1);	0.304555	0.31612	N	0.007360	T	0.35799	0.0944	N	0.26092	0.79	0.18873	N	0.999985	D;B	0.61697	0.99;0.279	D;B	0.72982	0.979;0.242	T	0.11155	-1.0599	10	0.21014	T	0.42	.	9.3393	0.38069	0.0:0.0:0.0:1.0	.	131;51	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	R	131;192	ENSP00000330374:Q131R	ENSP00000330374:Q131R	Q	-	2	0	GIMAP6	149956227	0.000000	0.05858	0.911000	0.35937	0.235000	0.25334	0.126000	0.15769	1.725000	0.51514	0.459000	0.35465	CAA		0.632	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		C	150325294	T	C	150325294	3	2	446	1	0	0	0	0	1	0	0	0	6385	1812	63	3	490	3	GIMAP6	7	150325294	Missense_Mutation	SNP	T	TCGA-BP-5199-01A-01D-1429-08	10796046	150325294	8813369	30	24410											
SHH	6469	broad.mit.edu;hgsc.bcm.edu	37	7	155596300	155596300	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:155596300T>C	ENST00000297261.2	-	3	833	c.683A>G	c.(682-684)gAc>gGc	p.D228G	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	228					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.D228G(1)		central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCTGGTCGTCCGCCGCCAG	0.701																																																1	Substitution - Missense(1)	kidney(1)											11	14	13					7																	155596300		2167	4265	6432	SO:0001583	missense	6469				CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.683A>G	7.37:g.155596300T>C	ENSP00000297261:p.Asp228Gly		A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.417554	0.42918	.	.	ENSG00000164690	ENST00000297261	D	0.99121	-5.45	4.17	4.17	0.49024	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.000000	0.85682	D	0.000000	D	0.98957	0.9645	M	0.66439	2.03	0.80722	D	1	D;P	0.89917	1.0;0.931	D;P	0.91635	0.999;0.761	D	0.99023	1.0818	10	0.42905	T	0.14	.	13.4423	0.61121	0.0:0.0:0.0:1.0	.	228;231	Q15465;D9ZGF9	SHH_HUMAN;.	G	228	ENSP00000297261:D228G	ENSP00000297261:D228G	D	-	2	0	SHH	155289061	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	4.365000	0.59486	1.765000	0.52091	0.454000	0.30748	GAC		0.701	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		C	155596300	T	C	155596300	3	2	446	1	0	0	0	0	1	0	0	0	14285	1667	58	3	709	3	SHH	7	155596300	Missense_Mutation	SNP	T	TCGA-BP-5199-01A-01D-1429-08	5271006	155596300	3542363	31	24411											
RPL30	6156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	99054891	99054891	+	Missense_Mutation	SNP	G	G	C	rs9879		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr8:99054891G>C	ENST00000521291.1	-	3	426	c.280C>G	c.(280-282)Ctg>Gtg	p.L94V	RPL30_ENST00000518164.1_Intron|SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000396070.2_Missense_Mutation_p.L75V|RPL30_ENST00000523172.1_Missense_Mutation_p.L30V|RPL30_ENST00000287038.3_Missense_Mutation_p.L94V|KB-1208A12.3_ENST00000501016.2_RNA			P62888	RL30_HUMAN	ribosomal protein L30	94					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.L94V(1)		kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			ATGATAGCCAGTGTGCACACT	0.368																																																1	Substitution - Missense(1)	kidney(1)											99	88	91					8																	99054891		2203	4300	6503	SO:0001583	missense	6156				CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"L ribosomal proteins"	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.280C>G	8.37:g.99054891G>C	ENSP00000428085:p.Leu94Val		B2R591|P04645|Q502Z6	Missense_Mutation	SNP	ENST00000521291.1	37	CCDS34928.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708361	0.48517	.	.	ENSG00000156482	ENST00000521291;ENST00000396070;ENST00000287038;ENST00000523172;ENST00000521726	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	4.94	4.94	0.65067	Ribosomal protein L30e, conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.64402	D	0.000003	T	0.68513	0.3009	M	0.65677	2.01	0.80722	D	1	P	0.35242	0.492	P	0.51385	0.668	T	0.70502	-0.4854	10	0.59425	D	0.04	-6.3373	11.2475	0.49006	0.0848:0.0:0.9152:0.0	.	94	P62888	RL30_HUMAN	V	94;75;94;30;94	ENSP00000428085:L94V;ENSP00000287038:L94V;ENSP00000430506:L30V;ENSP00000429483:L94V	ENSP00000287038:L94V	L	-	1	2	RPL30	99124067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.719000	0.47244	2.447000	0.82792	0.655000	0.94253	CTG		0.368	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380450.1			C	99054891	G	C	99054891	3	2	446	1	0	0	0	0	1	0	0	0	13586	1020	36	4	75	4	RPL30	8	99054891	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08		99054891	47309131	32	24412											
TMEM2	23670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	74305109	74305109	+	Silent	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr9:74305109C>T	ENST00000377044.4	-	22	4289	c.3750G>A	c.(3748-3750)gtG>gtA	p.V1250V	TMEM2_ENST00000377066.5_Silent_p.V1187V|TMEM2_ENST00000396272.3_Silent_p.V243V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1250					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1250V(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGCACGGATCCACAACAAGGA	0.458																																																1	Substitution - coding silent(1)	kidney(1)											120	99	106					9																	74305109		2203	4300	6503	SO:0001819	synonymous_variant	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3750G>A	9.37:g.74305109C>T			A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	CCDS6638.1																																																																																				0.458	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		T	74305109	C	T	74305109	2	4	446	1	0	0	0	0	0	0	0	1	16126	581	21	2		2	TMEM2	9	74305109	Silent	SNP	C	TCGA-BP-5199-01A-01D-1429-08		74305109	66908322	33	24413											
SLC34A3	142680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140126522	140126522	+	Splice_Site	SNP	A	A	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr9:140126522A>T	ENST00000538474.1	+	3	309		c.e3-1		SLC34A3_ENST00000361134.2_Splice_Site	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3						cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.?(1)		kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTACCTCCACAGGGACCTCCA	0.622																																																1	Unknown(1)	kidney(1)											121	124	123					9																	140126522		2203	4300	6503	SO:0001630	splice_region_variant	142680			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.86-1A>T	9.37:g.140126522A>T			A2BFA1	Splice_Site	SNP	ENST00000538474.1	37	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	a	2.651	-0.281976	0.05642	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	.	.	.	3.58	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.26674	N	0.971664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9813	0.19409	0.7704:0.0:0.0:0.2296	.	.	.	.	.	-1	.	.	.	+	.	.	SLC34A3	139246343	0.197000	0.23362	0.556000	0.28293	0.040000	0.13550	0.889000	0.28282	1.486000	0.48398	0.255000	0.18592	.		0.622	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877	Intron	T	140126522	A	T	140126522	5	4	446	1	0	0	0	0	0	0	1	0	14575	202	7	5	90	5	SLC34A3	9	140126522	Splice_Site	SNP	A	TCGA-BP-5199-01A-01D-1429-08	65821413	140126522	1086909	34	24414											
FBXO18	84893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5937075	5937075	+	Intron	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:5937075G>T	ENST00000362091.4	+	1	116				FBXO18_ENST00000397269.3_Intron|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000379999.5_Missense_Mutation_p.G27W	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.G27W(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACATTGCGCAGGGCCCCTGGG	0.532																																																1	Substitution - Missense(1)	kidney(1)											81	71	74					10																	5937075		2203	4300	6503	SO:0001627	intron_variant	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1+4766G>T	10.37:g.5937075G>T			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429537	0.25726	.	.	ENSG00000134452	ENST00000379999	.	.	.	3.33	0.273	0.15650	.	.	.	.	.	T	0.20495	0.0493	.	.	.	0.09310	N	0.999999	P	0.44816	0.844	B	0.40165	0.321	T	0.17531	-1.0366	7	0.72032	D	0.01	4.2222	1.8374	0.03143	0.1201:0.2056:0.463:0.2113	.	27	Q8NFZ0-2	.	W	27	.	ENSP00000369335:G27W	G	+	1	0	FBXO18	5977081	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.199000	0.17237	0.061000	0.16311	0.655000	0.94253	GGG		0.532	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		T	5937075	G	T	5937075	1	4	446	0	1	0	0	0	0	0	0	0	5733	1000	35	4		4	FBXO18	10	5937075	Intron	SNP	G	TCGA-BP-5199-01A-01D-1429-08		5937075	129597672	35	24415											
ZEB1	6935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	31810616	31810616	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:31810616G>A	ENST00000320985.10	+	7	2463	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	ZEB1_ENST00000560721.2_Missense_Mutation_p.D765N|ZEB1_ENST00000542815.3_Missense_Mutation_p.D718N|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.D769N|ZEB1_ENST00000361642.5_Missense_Mutation_p.D786N			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	785					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D785N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTGTGTTACAGACTCAGAACC	0.443																																					Ovarian(40;423 959 14296 36701 49589)											1	Substitution - Missense(1)	kidney(1)											138	116	123					10																	31810616		2203	4300	6503	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2353G>A	10.37:g.31810616G>A	ENSP00000319248:p.Asp785Asn		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	8.583	0.882767	0.17467	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.11385	3.08;2.78;2.82;2.78;2.83	5.3	5.3	0.74995	.	0.414459	0.22819	N	0.055243	T	0.18923	0.0454	L	0.57536	1.79	0.44668	D	0.997656	P;P;P;P;P;B;P;P	0.49961	0.93;0.763;0.799;0.651;0.799;0.235;0.799;0.651	P;B;B;B;B;B;B;B	0.52909	0.713;0.382;0.318;0.212;0.255;0.08;0.318;0.212	T	0.01982	-1.1235	10	0.15066	T	0.55	-22.6826	12.6488	0.56749	0.0758:0.0:0.9242:0.0	.	718;785;769;785;785;765;786;785	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	N	567;785;786;780;718;785;765;676;769	ENSP00000444282:D567N;ENSP00000354487:D786N;ENSP00000444891:D718N;ENSP00000319248:D785N;ENSP00000391612:D769N	ENSP00000319248:D785N	D	+	1	0	ZEB1	31850622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.410000	0.59774	2.633000	0.89246	0.650000	0.86243	GAC		0.443	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		A	31810616	G	A	31810616	3	1	446	1	0	0	0	0	1	0	0	0	17628	942	33	2	2393	2	ZEB1	10	31810616	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	25873541	31810616	103724131	36	24416											
CBARA1	10367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	74326491	74326491	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:74326491G>T	ENST00000361114.5	-	2	157	c.61C>A	c.(61-63)Cat>Aat	p.H21N	MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000398761.4_Missense_Mutation_p.H21N|MICU1_ENST00000401998.3_Missense_Mutation_p.H21N	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	21					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.H21N(1)									GATCCTCCATGGTACCATCGA	0.488																																																1	Substitution - Missense(1)	kidney(1)											71	70	70					10																	74326491		1951	4163	6114	SO:0001583	missense	0			Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.61C>A	10.37:g.74326491G>T	ENSP00000354415:p.His21Asn		A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300647	0.81136	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	D;D;D	0.81739	-1.52;-1.53;-1.53	5.91	5.91	0.95273	.	0.054502	0.64402	D	0.000001	T	0.74419	0.3714	L	0.50333	1.59	0.80722	D	1	P	0.40578	0.722	B	0.34652	0.187	T	0.77803	-0.2451	10	0.72032	D	0.01	.	13.0801	0.59109	0.0768:0.0:0.9232:0.0	.	21	Q9BPX6	MICU1_HUMAN	N	21	ENSP00000354415:H21N;ENSP00000381745:H21N;ENSP00000384068:H21N	ENSP00000354415:H21N	H	-	1	0	MICU1	73996497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.606000	0.54095	2.813000	0.96785	0.655000	0.94253	CAT		0.488	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		T	74326491	G	T	74326491	3	4	446	1	0	0	0	0	1	0	0	0	2698	1348	47	4	1419	4	CBARA1	10	74326491	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	42515875	74326491	61208256	37	24417											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	10	89720677	89720677	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:89720677T>G	ENST00000371953.3	+	8	2185	c.828T>G	c.(826-828)aaT>aaG	p.N276K	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	276	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.N276K(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTGGGTAAATACATTCTTCA	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	51	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)|Substitution - Missense(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|kidney(1)											29	31	30					10																	89720677		2192	4281	6473	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.828T>G	10.37:g.89720677T>G	ENSP00000361021:p.Asn276Lys		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938629	0.73557	.	.	ENSG00000171862	ENST00000371953	D	0.91792	-2.91	5.13	0.106	0.14540	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95105	0.8414	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92807	0.6261	9	.	.	.	-7.7972	9.0739	0.36508	0.0:0.3748:0.0:0.6252	.	276	P60484	PTEN_HUMAN	K	276	ENSP00000361021:N276K	.	N	+	3	2	PTEN	89710657	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.954000	0.40362	-0.228000	0.09869	0.482000	0.46254	AAT		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89720677	T	G	89720677	3	3	446	1	0	0	0	0	1	0	0	0	12743	1403	49	5	858	5	PTEN	10	89720677	Missense_Mutation	SNP	T	TCGA-BP-5199-01A-01D-1429-08	15394186	89720677	45814070	38	24418											
PTEN	5728	broad.mit.edu	37	10	89720741	89720741	+	Nonsense_Mutation	SNP	C	C	T	rs371387815		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:89720741C>T	ENST00000371953.3	+	8	2249	c.892C>T	c.(892-894)Caa>Taa	p.Q298*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	298	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.Q298*(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q298fs*9(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTATGTGATCAAGAAATCGA	0.323		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	56	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Nonsense(5)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|endometrium(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|kidney(1)											90	89	89					10																	89720741		2203	4299	6502	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.892C>T	10.37:g.89720741C>T	ENSP00000361021:p.Gln298*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.327844	0.99790	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.13	5.13	0.70059	.	0.221302	0.47093	D	0.000259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.289	18.5632	0.91108	0.0:1.0:0.0:0.0	.	.	.	.	X	298	.	.	Q	+	1	0	PTEN	89710721	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.216000	0.51176	2.399000	0.81585	0.591000	0.81541	CAA		0.323	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		T	89720741	C	T	89720741	4	4	446	1	0	0	0	0	0	1	0	0	12743	827	29	2	922	2	PTEN	10	89720741	Nonsense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08	64	89720741	45814006	39	24419											
GBF1	8729	broad.mit.edu;ucsc.edu	37	10	104121490	104121490	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:104121490C>G	ENST00000369983.3	+	14	1764	c.1504C>G	c.(1504-1506)Ctt>Gtt	p.L502V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	502					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L502V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATCAAAAAGCTTATGGAGAT	0.443																																																1	Substitution - Missense(1)	kidney(1)											95	87	89					10																	104121490		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1504C>G	10.37:g.104121490C>G	ENSP00000359000:p.Leu502Val		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959875	0.53400	.	.	ENSG00000107862	ENST00000369983	T	0.77877	-1.13	6.17	6.17	0.99709	.	0.056344	0.64402	D	0.000001	T	0.70798	0.3265	L	0.42744	1.35	0.58432	D	0.999999	P;P;B	0.37955	0.471;0.612;0.17	B;B;B	0.37091	0.241;0.241;0.084	T	0.66444	-0.5922	10	0.17369	T	0.5	-15.0951	15.9457	0.79792	0.0:0.9343:0.0:0.0657	.	502;502;502	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	V	502	ENSP00000359000:L502V	ENSP00000359000:L502V	L	+	1	0	GBF1	104111480	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.665000	0.46791	2.941000	0.99782	0.655000	0.94253	CTT		0.443	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			G	104121490	C	G	104121490	3	3	446	1	0	0	0	0	1	0	0	0	6273	797	28	4	1554	4	GBF1	10	104121490	Missense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08	14400749	104121490	31413257	40	24420											
SHOC2	8036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	112764372	112764372	+	Silent	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:112764372A>G	ENST00000369452.4	+	5	1326	c.981A>G	c.(979-981)ttA>ttG	p.L327L	SHOC2_ENST00000265277.5_Silent_p.L281L|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	327					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.L327L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AGAGTCTTTTATCAAGTCTTG	0.363																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											79	79	79					10																	112764372		2203	4300	6503	SO:0001819	synonymous_variant	8036			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.981A>G	10.37:g.112764372A>G			A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	CCDS7568.1																																																																																				0.363	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		G	112764372	A	G	112764372	2	3	446	1	0	0	0	0	0	0	0	1	14293	446	16	3		3	SHOC2	10	112764372	Silent	SNP	A	TCGA-BP-5199-01A-01D-1429-08	8642882	112764372	22770375	41	24421											
ZFP91	80829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	58377371	58377371	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr11:58377371A>G	ENST00000316059.6	+	3	610	c.439A>G	c.(439-441)Aga>Gga	p.R147G	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R147G	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	147					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.R147G(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGCTGCATCTAGACCTAGCCG	0.478																																																2	Substitution - Missense(2)	kidney(2)											127	124	125					11																	58377371		2201	4295	6496	SO:0001583	missense	80829			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.439A>G	11.37:g.58377371A>G	ENSP00000339030:p.Arg147Gly		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.613306	0.66672	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.28255	1.62	5.53	0.123	0.14709	.	2.201380	0.01915	N	0.040136	T	0.27900	0.0687	N	0.24115	0.695	0.20489	N	0.999894	B;B	0.25609	0.13;0.079	B;B	0.27715	0.082;0.037	T	0.46555	-0.9183	10	0.72032	D	0.01	-12.162	13.4777	0.61318	0.4702:0.5298:0.0:0.0	.	147;147	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	G	147	ENSP00000339030:R147G	ENSP00000374569:R147G	R	+	1	2	ZFP91	58133947	0.002000	0.14202	0.149000	0.22428	0.986000	0.74619	-0.179000	0.09768	0.128000	0.18479	0.533000	0.62120	AGA		0.478	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		G	58377371	A	G	58377371	3	3	446	1	0	0	0	0	1	0	0	0	17660	412	15	3	449	3	ZFP91	11	58377371	Missense_Mutation	SNP	A	TCGA-BP-5199-01A-01D-1429-08		58377371	76629145	42	24422											
SLC22A12	116085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64368297	64368297	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr11:64368297G>T	ENST00000377574.1	+	9	2232	c.1485G>T	c.(1483-1485)tgG>tgT	p.W495C	SLC22A12_ENST00000336464.7_Missense_Mutation_p.W461C|SLC22A12_ENST00000473690.1_Missense_Mutation_p.W274C|SLC22A12_ENST00000377567.2_Missense_Mutation_p.W387C|SLC22A12_ENST00000377572.1_Missense_Mutation_p.W387C	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	495					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.W495C(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	ATGGCCCCTGGCTGCCCTTGC	0.677																																																1	Substitution - Missense(1)	kidney(1)											73	75	75					11																	64368297		2201	4297	6498	SO:0001583	missense	116085			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1485G>T	11.37:g.64368297G>T	ENSP00000366797:p.Trp495Cys		B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	6.141	0.394301	0.11638	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	4.68	-2.93	0.05598	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.650804	0.16367	N	0.217515	T	0.61837	0.2379	M	0.82132	2.575	0.18873	N	0.999989	D;P;D	0.54047	0.964;0.867;0.964	P;B;B	0.57425	0.82;0.35;0.428	T	0.53429	-0.8440	10	0.38643	T	0.18	.	2.0407	0.03550	0.1692:0.3992:0.2152:0.2163	.	461;387;495	B5ME56;Q96S37-2;Q96S37	.;.;S22AC_HUMAN	C	387;495;387;274;461	ENSP00000366790:W387C;ENSP00000366797:W495C;ENSP00000366795:W387C;ENSP00000438437:W274C;ENSP00000336836:W461C	ENSP00000336836:W461C	W	+	3	0	SLC22A12	64124873	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.325000	0.01115	-0.534000	0.06315	-0.258000	0.10820	TGG		0.677	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		T	64368297	G	T	64368297	3	4	446	1	0	0	0	0	1	0	0	0	14449	1212	42	4	1519	4	SLC22A12	11	64368297	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	5990926	64368297	70638219	43	24423											
PPP2R1B	5519	hgsc.bcm.edu;ucsc.edu	37	11	111624250	111624251	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr11:111624250_111624251delTT	ENST00000527614.1	-	9	1145_1146	c.1080_1081delAA	c.(1078-1083)gtaattfs	p.I361fs	PPP2R1B_ENST00000341980.6_Intron|PPP2R1B_ENST00000311129.5_Frame_Shift_Del_p.I361fs|PPP2R1B_ENST00000393055.2_Frame_Shift_Del_p.I234fs|PPP2R1B_ENST00000426998.2_Frame_Shift_Del_p.I297fs|PPP2R1B_ENST00000427203.2_Frame_Shift_Del_p.I200fs	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	361					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AATCCCATAATTACAGAAGCTA	0.342																																																0																																										SO:0001589	frameshift_variant	5519			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1080_1081delAA	11.37:g.111624250_111624251delTT	ENSP00000437193:p.Ile361fs		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Frame_Shift_Del	DEL	ENST00000527614.1	37	CCDS8349.1																																																																																				0.342	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		-	111624251	TT	-	111624250	7	5	446	1	0	1	0	1	0	0	0	0	12388	1493	52	0	975	0	PPP2R1B	11	111624250	Frame_Shift_Del	DEL	TT	TCGA-BP-5199-01A-01D-1429-08	47255953	111624250	23382266	44	24424											
FOXRED1	55572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	126142904	126142905	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr11:126142904_126142905GT>TA	ENST00000263578.5	+	3	421_422	c.347_348GT>TA	c.(346-348)tGT>tTA	p.C116L	FOXRED1_ENST00000532125.1_Missense_Mutation_p.C102L|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_5'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	116						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.C116F(1)|p.C116>?(1)|p.C116*(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GGTGGGATTTGTCAGCAGTTCT	0.475																																																3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	55572				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	Exception_encountered	11.37:g.126142904_126142905delinsTA	ENSP00000263578:p.Cys116Leu		B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000263578.5	37	CCDS8471.1																																																																																				0.475	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		TA	126142905	GT	TA	126142904	3	4	446	1	0	0	0	0	1	0	0	0	6035	1377	48	4	357	4	FOXRED1	11	126142904	Missense_Mutation	DNP	GT	TCGA-BP-5199-01A-01D-1429-08	14518654	126142904	8863612	45	24425											
WNK1	65125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	993869	993869	+	Missense_Mutation	SNP	C	C	G	rs143361850		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr12:993869C>G	ENST00000315939.6	+	19	4542	c.3899C>G	c.(3898-3900)tCc>tGc	p.S1300C	WNK1_ENST00000340908.4_Missense_Mutation_p.S893C|WNK1_ENST00000535572.1_Missense_Mutation_p.S1053C|WNK1_ENST00000537687.1_Missense_Mutation_p.S1560C|WNK1_ENST00000530271.2_Missense_Mutation_p.S1798C	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1300					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S1560C(1)|p.S1300C(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTGCATCATCCCTTAGTCTA	0.433																																					Colon(19;451 567 6672 12618 28860)											2	Substitution - Missense(2)	kidney(2)											128	111	117					12																	993869		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3899C>G	12.37:g.993869C>G	ENSP00000313059:p.Ser1300Cys		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539442	0.65085	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000004	T	0.55162	0.1903	L	0.59436	1.845	0.50467	D	0.999871	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.98;0.956	T	0.54523	-0.8281	10	0.87932	D	0	-11.6714	19.9002	0.96983	0.0:1.0:0.0:0.0	.	1053;1053;1300	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	C	1053;1300;1560;473;1798;893	ENSP00000441972:S1053C;ENSP00000313059:S1300C;ENSP00000444465:S1560C;ENSP00000433548:S1798C;ENSP00000341292:S893C	ENSP00000252477:S473C	S	+	2	0	WNK1	864130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.892000	0.75644	2.709000	0.92574	0.655000	0.94253	TCC		0.433	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		G	993869	C	G	993869	3	3	446	1	0	0	0	0	1	0	0	0	17382	855	30	4	5475	4	WNK1	12	993869	Missense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08		993869	132858026	46	24426											
ACVRL1	94	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52312803	52312803	+	Silent	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr12:52312803T>C	ENST00000388922.4	+	9	1564	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D	ACVRL1_ENST00000550683.1_Silent_p.D441D|ACVRL1_ENST00000419526.2_Silent_p.D253D	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	427	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.D427D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTTCTATGATGTGGTGCCCA	0.552																																																1	Substitution - coding silent(1)	kidney(1)											168	134	145					12																	52312803		2203	4300	6503	SO:0001819	synonymous_variant	94			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1281T>C	12.37:g.52312803T>C			A6NGA8	Silent	SNP	ENST00000388922.4	37	CCDS31804.1																																																																																				0.552	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			C	52312803	T	C	52312803	2	2	446	1	0	0	0	0	0	0	0	1	225	1461	51	3		3	ACVRL1	12	52312803	Silent	SNP	T	TCGA-BP-5199-01A-01D-1429-08	51318934	52312803	81539092	47	24427											
KRT75	9119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52827998	52827998	+	Missense_Mutation	SNP	G	G	A	rs148964521		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr12:52827998G>A	ENST00000252245.5	-	1	311	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	31	Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R31C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GAGCTGAAGCGGGAGCGGCCA	0.662																																																1	Substitution - Missense(1)	kidney(1)						G	CYS/ARG	1,4395		0,1,2197	23	28	27		91	4.8	1	12	dbSNP_134	27	0,8576		0,0,4288	no	missense	KRT75	NM_004693.2	180	0,1,6485	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	31/552	52827998	1,12971	2198	4288	6486	SO:0001583	missense	9119			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.91C>T	12.37:g.52827998G>A	ENSP00000252245:p.Arg31Cys		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044173	0.36085	2.27E-4	0.0	ENSG00000170454	ENST00000252245	T	0.19394	2.15	5.74	4.82	0.62117	.	0.117425	0.35805	N	0.002975	T	0.14570	0.0352	L	0.28115	0.83	0.41164	D	0.986118	B	0.14805	0.011	B	0.06405	0.002	T	0.07597	-1.0764	10	0.16420	T	0.52	.	12.9046	0.58145	0.0:0.0:0.5546:0.4454	.	31	O95678	K2C75_HUMAN	C	31	ENSP00000252245:R31C	ENSP00000252245:R31C	R	-	1	0	KRT75	51114265	1.000000	0.71417	0.996000	0.52242	0.739000	0.42172	0.854000	0.27791	1.357000	0.45904	0.655000	0.94253	CGC		0.662	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		A	52827998	G	A	52827998	3	1	446	1	0	0	0	0	1	0	0	0	8490	1116	39	1	1600	1	KRT75	12	52827998	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	515195	52827998	81023897	48	24428											
COQ10A	93058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56663289	56663289	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr12:56663289T>C	ENST00000308197.5	+	4	781	c.520T>C	c.(520-522)Tgg>Cgg	p.W174R	COQ10A_ENST00000433805.2_Missense_Mutation_p.W142R|COQ10A_ENST00000546544.1_Missense_Mutation_p.W157R|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	174						mitochondrial inner membrane (GO:0005743)		p.W174R(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						AGAGACTATTTGGCGATTCAG	0.443																																																1	Substitution - Missense(1)	kidney(1)											180	167	171					12																	56663289		1948	4167	6115	SO:0001583	missense	93058			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"coenzyme Q10 homolog A (yeast)"				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.520T>C	12.37:g.56663289T>C	ENSP00000312587:p.Trp174Arg		Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	CCDS41796.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.452186	0.84209	.	.	ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544	T;T;T	0.68331	-0.32;-0.1;-0.25	4.58	4.58	0.56647	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	H	0.96748	3.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91048	0.4876	10	0.87932	D	0	.	13.3831	0.60780	0.0:0.0:0.0:1.0	.	157;179;174	Q96MF6-2;Q8TAL2;Q96MF6	.;.;CQ10A_HUMAN	R	174;142;157	ENSP00000312587:W174R;ENSP00000407843:W142R;ENSP00000446723:W157R	ENSP00000312587:W174R	W	+	1	0	COQ10A	54949556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.574000	0.82434	2.072000	0.62099	0.459000	0.35465	TGG		0.443	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		C	56663289	T	C	56663289	3	2	446	1	0	0	0	0	1	0	0	0	3745	1812	63	3	576	3	COQ10A	12	56663289	Missense_Mutation	SNP	T	TCGA-BP-5199-01A-01D-1429-08	3835291	56663289	77188606	49	24429											
STAB2	55576	broad.mit.edu;hgsc.bcm.edu	37	12	104126850	104126850	+	Missense_Mutation	SNP	G	G	A	rs147807697		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr12:104126850G>A	ENST00000388887.2	+	51	5554	c.5350G>A	c.(5350-5352)Gac>Aac	p.D1784N		NM_017564.9	NP_060034.9			stabilin 2									p.D1784N(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGGCCCACCGACCAAGCCCT	0.522																																																1	Substitution - Missense(1)	kidney(1)											228	184	199					12																	104126850		2203	4300	6503	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5350G>A	12.37:g.104126850G>A	ENSP00000373539:p.Asp1784Asn			Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174689	0.78452	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.89746	-2.56	5.11	5.11	0.69529	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.93122	0.7810	L	0.60957	1.885	0.50313	D	0.999869	D	0.89917	1.0	D	0.91635	0.999	D	0.92740	0.6207	10	0.44086	T	0.13	.	17.3045	0.87191	0.0:0.0:1.0:0.0	.	1784	Q8WWQ8	STAB2_HUMAN	N	1784;471	ENSP00000373539:D1784N	ENSP00000258495:D471N	D	+	1	0	STAB2	102650980	1.000000	0.71417	0.494000	0.27515	0.554000	0.35429	6.190000	0.72057	2.383000	0.81215	0.655000	0.94253	GAC		0.522	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	104126850	G	A	104126850	3	1	446	1	0	0	0	0	1	0	0	0	15243	1058	37	1	5552	1	STAB2	12	104126850	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	47463561	104126850	29725045	50	24430											
SKA3	221150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	21742170	21742170	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr13:21742170C>T	ENST00000314759.5	-	4	824	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	SKA3_ENST00000400018.3_Missense_Mutation_p.E234K	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	234					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)		p.E234K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTGTAATCTTCATTTAAACAC	0.299																																																2	Substitution - Missense(2)	kidney(2)											93	95	95					13																	21742170		2203	4299	6502	SO:0001583	missense	221150			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.700G>A	13.37:g.21742170C>T	ENSP00000319417:p.Glu234Lys		A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069226	0.76301	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.27256	1.68;1.68	5.86	3.88	0.44766	.	0.501755	0.24145	N	0.041130	T	0.30916	0.0780	L	0.54323	1.7	0.30503	N	0.770167	P;P	0.49559	0.925;0.925	P;P	0.49752	0.621;0.621	T	0.28235	-1.0050	10	0.62326	D	0.03	-9.4531	8.1515	0.31143	0.0:0.7669:0.0:0.2331	.	234;234	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	K	234	ENSP00000319417:E234K;ENSP00000382896:E234K	ENSP00000319417:E234K	E	-	1	0	SKA3	20640170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.517000	0.35867	1.475000	0.48197	0.655000	0.94253	GAA		0.299	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		T	21742170	C	T	21742170	3	4	446	1	0	0	0	0	1	0	0	0	14360	835	29	2	609	2	SKA3	13	21742170	Missense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08		21742170	93427708	51	24431											
GPR12	2835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	27333002	27333002	+	Silent	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr13:27333002C>T	ENST00000381436.2	-	1	1425	c.963G>A	c.(961-963)ccG>ccA	p.P321P	GPR12_ENST00000405846.3_Silent_p.P321P			P47775	GPR12_HUMAN	G protein-coupled receptor 12	321					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.P321P(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CGAGACTGGACGGGATGCAGC	0.557																																																1	Substitution - coding silent(1)	kidney(1)											77	78	78					13																	27333002		2203	4300	6503	SO:0001819	synonymous_variant	2835			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.963G>A	13.37:g.27333002C>T			Q5T8P3	Silent	SNP	ENST00000381436.2	37	CCDS9319.1																																																																																				0.557	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			T	27333002	C	T	27333002	2	4	446	1	0	0	0	0	0	0	0	1	6637	523	19	1		1	GPR12	13	27333002	Silent	SNP	C	TCGA-BP-5199-01A-01D-1429-08	5590832	27333002	87836876	52	24432											
GOLGA5	9950	hgsc.bcm.edu;ucsc.edu	37	14	93299661	93299665	+	Frame_Shift_Del	DEL	GATTA	GATTA	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	GATTA	GATTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr14:93299661_93299665delGATTA	ENST00000163416.2	+	10	2170_2174	c.1914_1918delGATTA	c.(1912-1920)tcgattaatfs	p.IN639fs	GOLGA5_ENST00000355976.2_Frame_Shift_Del_p.IN639fs	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	639					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		ATGGGTCTTCGATTAATATGTCTGG	0.395			T	RET	papillary thyroid																																		Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	0																																										SO:0001589	frameshift_variant	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1914_1918delGATTA	14.37:g.93299661_93299665delGATTA	ENSP00000163416:p.Ile639fs		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Frame_Shift_Del	DEL	ENST00000163416.2	37	CCDS9905.1																																																																																				0.395	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			-	93299665	GATTA	-	93299661	7	5	446	1	0	1	0	1	0	0	0	0	6558	1045	37	0	1948	0	GOLGA5	14	93299661	Frame_Shift_Del	DEL	GATTA	TCGA-BP-5199-01A-01D-1429-08		93299661	14049879	53	24433											
EIF2AK4	440275	broad.mit.edu;hgsc.bcm.edu	37	15	40268968	40268968	+	Silent	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr15:40268968C>A	ENST00000263791.5	+	12	2215	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	EIF2AK4_ENST00000382727.2_Silent_p.P724P	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	724	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.P724P(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCCGTTTCCCCGCCACCGGCC	0.711																																																1	Substitution - coding silent(1)	kidney(1)											37	41	40					15																	40268968		1755	3834	5589	SO:0001819	synonymous_variant	440275			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2172C>A	15.37:g.40268968C>A			C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	CCDS42016.1																																																																																				0.711	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			A	40268968	C	A	40268968	2	1	446	1	0	0	0	0	0	0	0	1	5001	639	23	4		4	EIF2AK4	15	40268968	Silent	SNP	C	TCGA-BP-5199-01A-01D-1429-08		40268968	62262424	54	24434											
SQRDL	58472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45962137	45962137	+	Silent	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr15:45962137A>G	ENST00000260324.7	+	4	803	c.417A>G	c.(415-417)cgA>cgG	p.R139R	SQRDL_ENST00000568606.1_Silent_p.R139R|RP11-96O20.4_ENST00000564080.1_Silent_p.R139R	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	139					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)	p.R139R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCTCCTACCGATATCTTATTA	0.448																																																1	Substitution - coding silent(1)	kidney(1)											297	266	277					15																	45962137		2198	4297	6495	SO:0001819	synonymous_variant	58472			AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.417A>G	15.37:g.45962137A>G			Q9UQM8	Silent	SNP	ENST00000260324.7	37	CCDS10127.1																																																																																				0.448	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			G	45962137	A	G	45962137	2	3	446	1	0	0	0	0	0	0	0	1	15134	320	12	3		3	SQRDL	15	45962137	Silent	SNP	A	TCGA-BP-5199-01A-01D-1429-08	5693169	45962137	56569255	55	24435											
ADAM10	102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	58904077	58904077	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr15:58904077A>G	ENST00000260408.3	-	12	2068	c.1625T>C	c.(1624-1626)cTc>cCc	p.L542P	ADAM10_ENST00000396140.2_Missense_Mutation_p.L241P|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	542	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.L542P(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGCTGGGCAGAGAGCTGTGAA	0.413																																																1	Substitution - Missense(1)	kidney(1)											160	129	139					15																	58904077		2192	4292	6484	SO:0001583	missense	102			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1625T>C	15.37:g.58904077A>G	ENSP00000260408:p.Leu542Pro		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429976	0.43122	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.11495	2.77;2.77	5.92	5.92	0.95590	Blood coagulation inhibitor, Disintegrin (5);	0.271707	0.38005	N	0.001858	T	0.21921	0.0528	M	0.77103	2.36	0.80722	D	1	P;B;B	0.37985	0.613;0.261;0.431	P;B;B	0.45167	0.472;0.352;0.352	T	0.00832	-1.1548	10	0.48119	T	0.1	-12.7837	11.4503	0.50149	0.8656:0.0:0.0:0.1344	.	241;361;542	B4DU28;A8MY20;O14672	.;.;ADA10_HUMAN	P	542;361;241	ENSP00000260408:L542P;ENSP00000379444:L241P	ENSP00000260408:L542P	L	-	2	0	ADAM10	56691369	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.556000	0.53734	2.254000	0.74563	0.528000	0.53228	CTC		0.413	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		G	58904077	A	G	58904077	3	3	446	1	0	0	0	0	1	0	0	0	234	304	11	3	641	3	ADAM10	15	58904077	Missense_Mutation	SNP	A	TCGA-BP-5199-01A-01D-1429-08	12941940	58904077	43627315	56	24436											
ZNF609	23060	hgsc.bcm.edu;ucsc.edu	37	15	64967277	64967280	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	GAAA	GAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr15:64967277_64967280delGAAA	ENST00000326648.3	+	4	2352_2355	c.2224_2227delGAAA	c.(2224-2229)gaaagtfs	p.ES742fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	742						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGAACTTGAAAGTCCTCTGAC	0.471																																																0																																										SO:0001589	frameshift_variant	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2224_2227delGAAA	15.37:g.64967277_64967280delGAAA	ENSP00000316527:p.Glu742fs		Q0D2I2	Frame_Shift_Del	DEL	ENST00000326648.3	37	CCDS32270.1																																																																																				0.471	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		-	64967280	GAAA	-	64967277	7	5	446	1	0	1	0	1	0	0	0	0	18040	1291	45	0	2238	0	ZNF609	15	64967277	Frame_Shift_Del	DEL	GAAA	TCGA-BP-5199-01A-01D-1429-08	6063200	64967277	37564115	57	24437											
ALPK3	57538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	85405941	85405941	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr15:85405941T>C	ENST00000258888.5	+	10	4978	c.4811T>C	c.(4810-4812)cTc>cCc	p.L1604P		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1604	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L1604P(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGGACAAGCTCTTTGGGCGA	0.582																																																2	Substitution - Missense(2)	kidney(2)											59	59	59					15																	85405941		2203	4299	6502	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4811T>C	15.37:g.85405941T>C	ENSP00000258888:p.Leu1604Pro		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709121	0.68615	.	.	ENSG00000136383	ENST00000258888	T	0.08546	3.08	4.97	4.97	0.65823	MHCK/EF2 kinase (1);Protein kinase-like domain (1);	0.165491	0.42548	D	0.000694	T	0.18882	0.0453	L	0.38175	1.15	0.58432	D	0.999999	D	0.69078	0.997	D	0.72338	0.977	T	0.00611	-1.1645	10	0.87932	D	0	-20.2924	12.6543	0.56778	0.0:0.0:0.0:1.0	.	1604	Q96L96	ALPK3_HUMAN	P	1604	ENSP00000258888:L1604P	ENSP00000258888:L1604P	L	+	2	0	ALPK3	83206945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.614000	0.61183	2.085000	0.62840	0.533000	0.62120	CTC		0.582	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		C	85405941	T	C	85405941	3	2	446	1	0	0	0	0	1	0	0	0	546	1551	54	3	4849	3	ALPK3	15	85405941	Missense_Mutation	SNP	T	TCGA-BP-5199-01A-01D-1429-08	20438664	85405941	17125451	58	24438											
SRRM2	23524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2809634	2809634	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:2809634G>T	ENST00000301740.8	+	9	1354	c.805G>T	c.(805-807)Gct>Tct	p.A269S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	269	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.A269S(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGCTGACTCTGCTTCCTCCTC	0.547																																																1	Substitution - Missense(1)	kidney(1)											74	69	70					16																	2809634		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.805G>T	16.37:g.2809634G>T	ENSP00000301740:p.Ala269Ser		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168162	0.38315	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.21932	1.98	4.73	4.73	0.59995	.	0.000000	0.52532	D	0.000063	T	0.27967	0.0689	N	0.24115	0.695	0.32516	N	0.536942	D	0.63880	0.993	D	0.70227	0.968	T	0.08391	-1.0724	10	0.14656	T	0.56	-9.568	13.5438	0.61690	0.0:0.0:1.0:0.0	.	269	Q9UQ35	SRRM2_HUMAN	S	269;269;173;234	ENSP00000301740:A269S	ENSP00000301740:A269S	A	+	1	0	SRRM2	2749635	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.062000	0.49971	2.327000	0.79052	0.462000	0.41574	GCT		0.547	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2809634	G	T	2809634	3	4	446	1	0	0	0	0	1	0	0	0	15174	1319	46	4	835	4	SRRM2	16	2809634	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08		2809634	87545119	59	24439											
UBN1	29855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4920562	4920562	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:4920562G>T	ENST00000396658.4	+	9	2060	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	UBN1_ENST00000262376.6_Missense_Mutation_p.G453C|UBN1_ENST00000590769.1_Missense_Mutation_p.G453C|UBN1_ENST00000545171.1_Missense_Mutation_p.G453C|UBN1_ENST00000585857.1_3'UTR	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	453					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G453C(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGAAGCCATTGGCAGGGCGAT	0.577																																																1	Substitution - Missense(1)	kidney(1)											52	43	46					16																	4920562		2197	4300	6497	SO:0001583	missense	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1357G>T	16.37:g.4920562G>T	ENSP00000379894:p.Gly453Cys		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554833	0.65425	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.42900	0.96;0.96;0.96	5.23	4.24	0.50183	.	0.181877	0.49305	D	0.000153	T	0.29588	0.0738	L	0.27053	0.805	0.38121	D	0.937856	B;B	0.26744	0.158;0.045	B;B	0.22753	0.041;0.035	T	0.13308	-1.0514	10	0.36615	T	0.2	-4.8258	12.3619	0.55207	0.0865:0.0:0.9135:0.0	.	453;453	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	C	453	ENSP00000262376:G453C;ENSP00000442379:G453C;ENSP00000379894:G453C	ENSP00000262376:G453C	G	+	1	0	UBN1	4860563	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.471000	0.45127	1.127000	0.42034	0.655000	0.94253	GGC		0.577	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		T	4920562	G	T	4920562	3	4	446	1	0	0	0	0	1	0	0	0	16897	1348	47	4	1391	4	UBN1	16	4920562	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	2110928	4920562	85434191	60	24440											
PYCARD	29108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31213020	31213020	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:31213020C>G	ENST00000247470.9	-	3	775	c.474G>C	c.(472-474)aaG>aaC	p.K158N	C16orf98_ENST00000561916.2_5'Flank|PYCARD_ENST00000350605.4_Missense_Mutation_p.K139N	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	158	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)	p.K158N(1)		NS(1)|kidney(1)	2						GCTTCCGCATCTTGCTTGGGT	0.602																																																1	Substitution - Missense(1)	kidney(1)											128	105	113					16																	31213020		2197	4300	6497	SO:0001583	missense	29108			AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.474G>C	16.37:g.31213020C>G	ENSP00000247470:p.Lys158Asn		Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Missense_Mutation	SNP	ENST00000247470.9	37	CCDS10708.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035785	0.54896	.	.	ENSG00000103490	ENST00000350605;ENST00000247470;ENST00000355986	T;T	0.27256	1.68;1.68	5.05	1.98	0.26296	DEATH-like (2);Caspase Recruitment (2);	0.241087	0.29355	N	0.012381	T	0.48059	0.1479	M	0.79693	2.465	0.31797	N	0.628862	D;D	0.76494	0.999;0.998	D;D	0.79784	0.993;0.988	T	0.57300	-0.7835	10	0.72032	D	0.01	.	9.3172	0.37941	0.0:0.7404:0.0:0.2596	.	158;139	Q9ULZ3;Q9ULZ3-2	ASC_HUMAN;.	N	139;158;98	ENSP00000340441:K139N;ENSP00000247470:K158N	ENSP00000247470:K158N	K	-	3	2	PYCARD	31120521	0.843000	0.29541	0.879000	0.34478	0.332000	0.28634	0.254000	0.18314	0.643000	0.30638	0.655000	0.94253	AAG		0.602	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		G	31213020	C	G	31213020	3	3	446	1	0	0	0	0	1	0	0	0	12860	912	32	4	117	4	PYCARD	16	31213020	Missense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08	26292458	31213020	59141733	61	24441											
FTO	79068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53878083	53878083	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:53878083T>G	ENST00000471389.1	+	4	990	c.768T>G	c.(766-768)agT>agG	p.S256R	FTO_ENST00000394647.3_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	256	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)	p.S256R(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AAGAGGAAAGTGAGGATGACT	0.393																																																1	Substitution - Missense(1)	kidney(1)											130	121	124					16																	53878083		2198	4300	6498	SO:0001583	missense	79068			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.768T>G	16.37:g.53878083T>G	ENSP00000418823:p.Ser256Arg		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932093	0.34096	.	.	ENSG00000140718	ENST00000471389	T	0.64991	-0.13	5.81	-2.22	0.06952	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.431187	0.29396	N	0.012279	T	0.42314	0.1197	L	0.36672	1.1	0.22745	N	0.99878	B	0.15141	0.012	B	0.17433	0.018	T	0.16778	-1.0391	10	0.27785	T	0.31	-11.114	5.5907	0.17299	0.1945:0.3961:0.0:0.4093	.	256	Q9C0B1	FTO_HUMAN	R	256	ENSP00000418823:S256R	ENSP00000418823:S256R	S	+	3	2	FTO	52435584	0.002000	0.14202	0.873000	0.34254	0.186000	0.23388	-0.562000	0.05950	-0.352000	0.08237	-0.250000	0.11733	AGT		0.393	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		G	53878083	T	G	53878083	3	3	446	1	0	0	0	0	1	0	0	0	6088	1693	59	5	782	5	FTO	16	53878083	Missense_Mutation	SNP	T	TCGA-BP-5199-01A-01D-1429-08	22665063	53878083	36476670	62	24442											
PLEKHG4	25894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67318935	67318935	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:67318935C>T	ENST00000360461.5	+	12	4547	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P671L|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P590L|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P671L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	671							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P671L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCCCACCCTCCCCTGAGGAAG	0.627																																																1	Substitution - Missense(1)	kidney(1)											29	30	30					16																	67318935		2197	4299	6496	SO:0001583	missense	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2012C>T	16.37:g.67318935C>T	ENSP00000353646:p.Pro671Leu		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098787	0.56183	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.09073	3.02;3.02;3.02;3.04	4.3	4.3	0.51218	.	.	.	.	.	T	0.17066	0.0410	L	0.32530	0.975	0.47949	D	0.999556	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.06899	-1.0801	9	0.23302	T	0.38	.	13.849	0.63485	0.0:1.0:0.0:0.0	.	590;671	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	L	671;671;671;590	ENSP00000353646:P671L;ENSP00000401118:P671L;ENSP00000368649:P671L;ENSP00000398030:P590L	ENSP00000353646:P671L	P	+	2	0	PLEKHG4	65876436	0.032000	0.19561	1.000000	0.80357	0.889000	0.51656	1.434000	0.34958	2.104000	0.64026	0.655000	0.94253	CCC		0.627	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		T	67318935	C	T	67318935	3	4	446	1	0	0	0	0	1	0	0	0	12073	623	22	2	2058	2	PLEKHG4	16	67318935	Missense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08	13440852	67318935	23035818	63	24443											
LCAT	3931	hgsc.bcm.edu;ucsc.edu	37	16	67974104	67974117	+	Frame_Shift_Del	DEL	GCCCACGCCGTAAA	GCCCACGCCGTAAA	-	rs112299487|rs375740669|rs138943456		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	GCCCACGCCGTAAA	GCCCACGCCGTAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:67974104_67974117delGCCCACGCCGTAAA	ENST00000264005.5	-	6	1042_1055	c.1013_1026delTTTACGGCGTGGGC	c.(1012-1026)ctttacggcgtgggcfs	p.LYGVG338fs		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	338			L -> F (in FED; results in reduced protein secretion and activity). {ECO:0000269|PubMed:21901787}.		cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GCGTGGGCAGGCCCACGCCGTAAAGACAGTATAC	0.598																																																0																																										SO:0001589	frameshift_variant	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.1013_1026delTTTACGGCGTGGGC	16.37:g.67974104_67974117delGCCCACGCCGTAAA	ENSP00000264005:p.Leu338fs		Q53XQ3	Frame_Shift_Del	DEL	ENST00000264005.5	37	CCDS10854.1																																																																																				0.598	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			-	67974117	GCCCACGCCGTAAA	-	67974104	7	5	446	1	0	1	0	1	0	0	0	0	8660	1190	42	0	300	0	LCAT	16	67974104	Frame_Shift_Del	DEL	GCCCACGCCGTAAA	TCGA-BP-5199-01A-01D-1429-08	655169	67974104	22380649	64	24444											
ZNF276	92822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89789584	89789584	+	Silent	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:89789584G>A	ENST00000443381.2	+	3	646	c.549G>A	c.(547-549)gcG>gcA	p.A183A	ZNF276_ENST00000289816.5_Silent_p.A108A|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Silent_p.A108A|ZNF276_ENST00000446326.2_5'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A108A(1)|p.A183A(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGGAGGGAGCGTGTCTGGGTG	0.637																																																2	Substitution - coding silent(2)	kidney(2)											56	55	55					16																	89789584		2198	4300	6498	SO:0001819	synonymous_variant	92822			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.549G>A	16.37:g.89789584G>A			Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	CCDS45554.1																																																																																				0.637	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		A	89789584	G	A	89789584	2	1	446	1	0	0	0	0	0	0	0	1	17816	1132	40	1		1	ZNF276	16	89789584	Silent	SNP	G	TCGA-BP-5199-01A-01D-1429-08	21815480	89789584	565169	65	24445											
RILP	8578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1549792	1549792	+	5'Flank	SNP	A	A	T	rs556577180		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr17:1549792A>T	ENST00000263071.4	-	0	0				SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_5'Flank|SCARF1_ENST00000348987.3_5'Flank|RILP_ENST00000301336.6_Missense_Mutation_p.C384S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.C384S(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGCAGAACAGGGCGGATCA	0.602													A|||	1	0.000199681	0.0	0.0	5008	,	,		18208	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											126	113	118					17																	1549792		2203	4300	6503	SO:0001631	upstream_gene_variant	83547			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1549792A>T	Exception_encountered		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036546	0.35893	.	.	ENSG00000167705	ENST00000301336	T	0.31769	1.48	4.1	0.491	0.16867	.	3.145510	0.00832	N	0.001675	T	0.22437	0.0541	L	0.36672	1.1	0.09310	N	1	P	0.47409	0.895	B	0.38056	0.264	T	0.24657	-1.0154	10	0.14656	T	0.56	-3.1472	7.3117	0.26477	0.6028:0.0:0.3972:0.0	.	384	Q96NA2	RILP_HUMAN	S	384	ENSP00000301336:C384S	ENSP00000301336:C384S	C	-	1	0	RILP	1496542	0.009000	0.17119	0.001000	0.08648	0.051000	0.14879	1.057000	0.30492	-0.037000	0.13646	0.459000	0.35465	TGT		0.602	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		T	1549792	A	T	1549792	1	4	446	0	1	0	0	0	0	0	0	0	13366	188	7	5		5	RILP	17	1549792	5'Flank	SNP	A	TCGA-BP-5199-01A-01D-1429-08		1549792	79645418	66	24446											
MYH4	4622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10369589	10369589	+	Splice_Site	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr17:10369589C>T	ENST00000255381.2	-	4	459		c.e4+1		RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.?(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGGTGCTCACGTAGATCATC	0.433																																																1	Unknown(1)	kidney(1)											246	200	215					17																	10369589		2203	4300	6503	SO:0001630	splice_region_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.348+1G>A	17.37:g.10369589C>T				Splice_Site	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613110	0.66672	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4991	0.90875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2;MYH4	10310314	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.547000	0.82146	2.666000	0.90696	0.650000	0.86243	.		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Intron	T	10369589	C	T	10369589	5	4	446	1	0	0	0	0	0	0	1	0	10039	550	19	1	5618	1	MYH4	17	10369589	Splice_Site	SNP	C	TCGA-BP-5199-01A-01D-1429-08	8819797	10369589	70825621	67	24447											
HAP1	9001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39884564	39884564	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr17:39884564C>A	ENST00000310778.5	-	7	1098	c.1089G>T	c.(1087-1089)atG>atT	p.M363I	JUP_ENST00000540235.1_Intron|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000393939.2_Missense_Mutation_p.M363I|HAP1_ENST00000347901.4_Missense_Mutation_p.M363I|HAP1_ENST00000341193.5_Missense_Mutation_p.M371I			P54257	HAP1_HUMAN	huntingtin-associated protein 1	363	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.M363I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACAGCTCAGCCATCTGTTGGC	0.657																																																1	Substitution - Missense(1)	kidney(1)											37	33	34					17																	39884564		2203	4300	6503	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1089G>T	17.37:g.39884564C>A	ENSP00000309392:p.Met363Ile		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	C	11.32	1.603790	0.28534	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	4.14	3.08	0.35506	.	0.000000	0.51477	D	0.000100	T	0.10423	0.0255	N	0.22421	0.69	0.27911	N	0.938601	B;B;B;B	0.32653	0.379;0.379;0.095;0.117	B;B;B;B	0.43508	0.314;0.314;0.297;0.422	T	0.27773	-1.0064	10	0.13108	T	0.6	-21.367	6.1628	0.20373	0.0:0.8589:0.0:0.1411	.	363;371;363;363	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	I	363;363;363;371	ENSP00000377513:M363I;ENSP00000309392:M363I;ENSP00000334002:M363I;ENSP00000343170:M371I	ENSP00000309392:M363I	M	-	3	0	HAP1	37138090	0.998000	0.40836	1.000000	0.80357	0.930000	0.56654	0.478000	0.22212	2.183000	0.69458	0.549000	0.68633	ATG		0.657	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		A	39884564	C	A	39884564	3	1	446	1	0	0	0	0	1	0	0	0	6955	594	21	4	790	4	HAP1	17	39884564	Missense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08	29514975	39884564	41310646	68	24448											
TOM1L1	10040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	53027421	53027421	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr17:53027421A>G	ENST00000575882.1	+	14	1657	c.1304A>G	c.(1303-1305)gAt>gGt	p.D435G	TOM1L1_ENST00000348161.4_Missense_Mutation_p.D358G|TOM1L1_ENST00000536554.1_Missense_Mutation_p.D358G|TOM1L1_ENST00000572158.1_Missense_Mutation_p.D428G|TOM1L1_ENST00000540336.1_Missense_Mutation_p.D323G|COX11_ENST00000573912.1_5'Flank|TOM1L1_ENST00000445275.2_Missense_Mutation_p.D424G	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	435					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.D435G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ACAAAAAGTGATCTCCAGCCA	0.343																																																1	Substitution - Missense(1)	kidney(1)											101	97	98					17																	53027421		2203	4300	6503	SO:0001583	missense	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1304A>G	17.37:g.53027421A>G	ENSP00000460823:p.Asp435Gly		Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630996	0.46944	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.27256	1.68;1.72;1.72	5.51	4.42	0.53409	.	0.253751	0.34156	N	0.004208	T	0.22044	0.0531	L	0.54323	1.7	0.36987	D	0.894592	P;B;P;B	0.35077	0.483;0.335;0.483;0.335	B;B;B;B	0.30179	0.112;0.079;0.112;0.079	T	0.13629	-1.0502	10	0.30078	T	0.28	-16.9896	10.6524	0.45655	0.8399:0.1601:0.0:0.0	.	323;428;358;435	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	G	435;323;358;358	ENSP00000441242:D323G;ENSP00000343901:D358G;ENSP00000443099:D358G	ENSP00000343901:D358G	D	+	2	0	TOM1L1	50382420	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.955000	0.40372	1.074000	0.40909	0.459000	0.35465	GAT		0.343	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		G	53027421	A	G	53027421	3	3	446	1	0	0	0	0	1	0	0	0	16357	333	12	3	1358	3	TOM1L1	17	53027421	Missense_Mutation	SNP	A	TCGA-BP-5199-01A-01D-1429-08	13142857	53027421	28167789	69	24449											
PSMC5	5705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61908394	61908394	+	Splice_Site	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr17:61908394A>G	ENST00000310144.6	+	8	987		c.e8-1		PSMC5_ENST00000581882.1_Splice_Site|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_Splice_Site|PSMC5_ENST00000375812.4_Splice_Site	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein 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)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCCTCCACACAGGGGCAAGAA	0.532																																																1	Unknown(1)	kidney(1)											66	65	65					17																	61908394		2203	4300	6503	SO:0001630	splice_region_variant	5705			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.680-1A>G	17.37:g.61908394A>G			A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Splice_Site	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553837	0.65425	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8576	0.63537	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMC5	59262126	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.950000	0.93019	2.367000	0.80283	0.528000	0.53228	.		0.532	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	Intron	G	61908394	A	G	61908394	5	3	446	1	0	0	0	0	0	0	1	0	12695	202	7	3	708	3	PSMC5	17	61908394	Splice_Site	SNP	A	TCGA-BP-5199-01A-01D-1429-08	8880973	61908394	19286816	70	24450											
SLC39A6	25800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33706569	33706569	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr18:33706569A>C	ENST00000590986.1	-	2	691	c.402T>G	c.(400-402)caT>caG	p.H134Q	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000269187.5_Missense_Mutation_p.H134Q			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	134	His-rich.				cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.H134Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CAGAAGCAGCatgattatggt	0.483																																																1	Substitution - Missense(1)	kidney(1)											120	107	111					18																	33706569		2082	4214	6296	SO:0001583	missense	25800			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.402T>G	18.37:g.33706569A>C	ENSP00000465915:p.His134Gln		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	A	9.817	1.184855	0.21870	.	.	ENSG00000141424	ENST00000269187	T	0.44881	0.91	5.18	-0.417	0.12347	.	0.389317	0.27023	N	0.021305	T	0.23210	0.0561	L	0.46157	1.445	0.09310	N	0.999997	B	0.23058	0.079	B	0.21360	0.034	T	0.17198	-1.0377	10	0.08179	T	0.78	-2.6328	1.116	0.01714	0.5244:0.1549:0.1713:0.1494	.	134	Q13433	S39A6_HUMAN	Q	134	ENSP00000269187:H134Q	ENSP00000269187:H134Q	H	-	3	2	SLC39A6	31960567	0.001000	0.12720	0.129000	0.21949	0.687000	0.40016	-0.413000	0.07123	-0.188000	0.10499	-0.388000	0.06559	CAT		0.483	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			C	33706569	A	C	33706569	3	2	446	1	0	0	0	0	1	0	0	0	14628	214	8	5	1913	5	SLC39A6	18	33706569	Missense_Mutation	SNP	A	TCGA-BP-5199-01A-01D-1429-08		33706569	44370679	71	24451											
ZNF653	115950	broad.mit.edu;hgsc.bcm.edu	37	19	11597661	11597661	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:11597661C>A	ENST00000293771.5	-	6	1514	c.1378G>T	c.(1378-1380)Gct>Tct	p.A460S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A460S(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGGCCGTCAGCATCCATCACC	0.701																																					Pancreas(83;980 1446 4542 6441 43352)											1	Substitution - Missense(1)	kidney(1)											40	30	34					19																	11597661		2203	4300	6503	SO:0001583	missense	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1378G>T	19.37:g.11597661C>A	ENSP00000293771:p.Ala460Ser		Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781558	0.70222	.	.	ENSG00000161914	ENST00000293771	T	0.10860	2.83	5.54	5.54	0.83059	.	0.196433	0.41500	D	0.000862	T	0.10121	0.0248	N	0.24115	0.695	0.47621	D	0.999478	P	0.52842	0.956	B	0.41764	0.366	T	0.09015	-1.0694	10	0.41790	T	0.15	-25.9758	18.2618	0.90038	0.0:1.0:0.0:0.0	.	460	Q96CK0	ZN653_HUMAN	S	460	ENSP00000293771:A460S	ENSP00000293771:A460S	A	-	1	0	ZNF653	11458661	0.999000	0.42202	0.729000	0.30791	0.383000	0.30230	4.333000	0.59285	2.622000	0.88805	0.555000	0.69702	GCT		0.701	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		A	11597661	C	A	11597661	3	1	446	1	0	0	0	0	1	0	0	0	18071	710	25	4	485	4	ZNF653	19	11597661	Missense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08		11597661	47531322	72	24452											
SSBP4	170463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18543023	18543023	+	Splice_Site	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:18543023A>G	ENST00000270061.7	+	10	997	c.703A>G	c.(703-705)Atg>Gtg	p.M235V	SSBP4_ENST00000348495.6_Splice_Site_p.M213V|SSBP4_ENST00000599699.2_5'Flank	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	235	Pro-rich.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.M235V(1)		endometrium(2)|kidney(1)|skin(1)	4						TGCCATGAACATGTAAGACCC	0.642																																																1	Substitution - Missense(1)	kidney(1)											26	32	30					19																	18543023		2202	4297	6499	SO:0001630	splice_region_variant	170463				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.704+1A>G	19.37:g.18543023A>G			Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	37	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931201	0.52866	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.67	3.67	0.42095	.	0.000000	0.85682	U	0.000000	T	0.57198	0.2037	M	0.70595	2.14	0.58432	D	0.999994	P;P	0.36974	0.576;0.576	P;P	0.44673	0.457;0.457	T	0.52200	-0.8607	9	0.10902	T	0.67	-6.3764	8.896	0.35465	1.0:0.0:0.0:0.0	.	213;235	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	V	235;213	.	ENSP00000270061:M235V	M	+	1	0	SSBP4	18404023	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	3.877000	0.56123	1.682000	0.51000	0.379000	0.24179	ATG		0.642	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627	Missense_Mutation	G	18543023	A	G	18543023	5	3	446	1	0	0	0	0	0	0	1	0	15187	231	8	3	741	3	SSBP4	19	18543023	Splice_Site	SNP	A	TCGA-BP-5199-01A-01D-1429-08	6945362	18543023	40585960	73	24453											
ZNF780A	284323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40582092	40582092	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:40582092T>C	ENST00000595687.2	-	6	466	c.257A>G	c.(256-258)gAg>gGg	p.E86G	ZNF780A_ENST00000455521.1_Missense_Mutation_p.E87G|ZNF780A_ENST00000450241.2_Missense_Mutation_p.E52G|ZNF780A_ENST00000414720.2_Missense_Mutation_p.E102G|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E86G|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E87G|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E87G(1)|p.E52G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGATACTTTCTCAGGTCCATA	0.323																																																2	Substitution - Missense(2)	kidney(2)											47	47	47					19																	40582092		2179	4285	6464	SO:0001583	missense	284323			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.257A>G	19.37:g.40582092T>C	ENSP00000472189:p.Glu86Gly		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783077	0.31593	.	.	ENSG00000197782	ENST00000443072;ENST00000450241;ENST00000414720;ENST00000455521;ENST00000340963	T;T;T	0.06528	5.99;3.29;3.31	1.7	0.626	0.17670	.	.	.	.	.	T	0.04907	0.0132	L	0.28649	0.875	0.09310	N	1	P;P;B	0.51791	0.948;0.888;0.124	B;B;B	0.43889	0.354;0.435;0.031	T	0.37842	-0.9688	9	0.45353	T	0.12	.	2.9949	0.05995	0.0:0.2712:0.0:0.7288	.	87;86;102	E9PB48;O75290;O75290-2	.;Z780A_HUMAN;.	G	86;86;102;87;86	ENSP00000416294:E102G;ENSP00000400997:E87G;ENSP00000341507:E86G	ENSP00000341507:E86G	E	-	2	0	ZNF780A	45273932	0.001000	0.12720	0.006000	0.13384	0.714000	0.41099	0.827000	0.27421	0.754000	0.32968	0.254000	0.18369	GAG		0.323	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		C	40582092	T	C	40582092	3	2	446	1	0	0	0	0	1	0	0	0	18157	1551	54	3	1799	3	ZNF780A	19	40582092	Missense_Mutation	SNP	T	TCGA-BP-5199-01A-01D-1429-08	22039069	40582092	18546891	74	24454											
GLTSCR1	29998	broad.mit.edu;hgsc.bcm.edu	37	19	48198183	48198183	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:48198183C>A	ENST00000396720.3	+	9	3116	c.2922C>A	c.(2920-2922)aaC>aaA	p.N974K	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	974								p.N974K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TCCTCCAGAACAAGGCTGGGG	0.687																																																1	Substitution - Missense(1)	kidney(1)											18	21	20					19																	48198183		1874	4093	5967	SO:0001583	missense	29998			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2922C>A	19.37:g.48198183C>A	ENSP00000379946:p.Asn974Lys		A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	C	3.254	-0.152615	0.06585	.	.	ENSG00000063169	ENST00000396720	T	0.29142	1.58	2.9	0.682	0.17992	.	.	.	.	.	T	0.15089	0.0364	N	0.19112	0.55	0.30914	N	0.728785	B	0.22983	0.078	B	0.22601	0.04	T	0.35051	-0.9804	9	0.09590	T	0.72	.	6.1967	0.20553	0.0:0.6956:0.0:0.3044	.	974	Q9NZM4	GSCR1_HUMAN	K	974	ENSP00000379946:N974K	ENSP00000379946:N974K	N	+	3	2	GLTSCR1	52889995	0.904000	0.30761	0.893000	0.35052	0.058000	0.15608	1.096000	0.30976	0.522000	0.28464	0.313000	0.20887	AAC		0.687	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		A	48198183	C	A	48198183	3	1	446	1	0	0	0	0	1	0	0	0	6476	477	17	4	2948	4	GLTSCR1	19	48198183	Missense_Mutation	SNP	C	TCGA-BP-5199-01A-01D-1429-08	7616091	48198183	10930800	75	24455											
PRR12	57479	hgsc.bcm.edu	37	19	50099021	50099021	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:50099021G>A	ENST00000418929.2	+	4	1441	c.1429G>A	c.(1429-1431)Ggg>Agg	p.G477R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAGCTACTCAGGGGGCCCCCC	0.692																																																0													9	10	10					19																	50099021		1602	3746	5348	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1429G>A	19.37:g.50099021G>A	ENSP00000394510:p.Gly477Arg		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	7.049	0.564070	0.13498	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.56	3.56	0.40772	.	.	.	.	.	T	0.26085	0.0636	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08827	-1.0703	7	0.25751	T	0.34	.	8.4897	0.33093	0.1133:0.0:0.8867:0.0	.	477	Q9ULL5-3	.	R	477	.	ENSP00000394510:G477R	G	+	1	0	PRR12	54790833	0.784000	0.28713	0.935000	0.37517	0.836000	0.47400	2.186000	0.42593	2.007000	0.58848	0.455000	0.32223	GGG		0.692	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		A	50099021	G	A	50099021	3	1	446	1	0	0	0	0	1	0	0	0	12589	1000	35	2	1443	2	PRR12	19	50099021	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	1900838	50099021	9029962	76	24456											
CLEC11A	6320	broad.mit.edu;hgsc.bcm.edu	37	19	51228703	51228703	+	Silent	SNP	C	C	T	rs571444123		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:51228703C>T	ENST00000250340.4	+	4	1148	c.951C>T	c.(949-951)taC>taT	p.Y317Y	CLEC11A_ENST00000599973.1_3'UTR	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	317	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.Y317Y(1)		kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTCTCTACTACGTCTGCGAGT	0.701																																																1	Substitution - coding silent(1)	kidney(1)											19	15	16					19																	51228703		2151	4210	6361	SO:0001819	synonymous_variant	6320			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"C-type lectin domain containing"	10576	protein-coding gene	gene with protein product		604713	"stem cell growth factor; lymphocyte secreted C-type lectin"	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.951C>T	19.37:g.51228703C>T			B2RAD4	Silent	SNP	ENST00000250340.4	37	CCDS12800.1																																																																																				0.701	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		T	51228703	C	T	51228703	2	4	446	1	0	0	0	0	0	0	0	1	3498	547	19	1		1	CLEC11A	19	51228703	Silent	SNP	C	TCGA-BP-5199-01A-01D-1429-08	1129682	51228703	7900280	77	24457											
CYB5R3	1727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	43024287	43024287	+	Splice_Site	SNP	C	C	A	rs371710254		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr22:43024287C>A	ENST00000352397.5	-	5	586	c.334G>T	c.(334-336)Gtt>Ttt	p.V112F	CYB5R3_ENST00000396303.3_Splice_Site_p.V89F|CYB5R3_ENST00000407623.3_Splice_Site_p.V89F|CYB5R3_ENST00000402438.1_Splice_Site_p.V89F|CYB5R3_ENST00000361740.4_Splice_Site_p.V145F|CYB5R3_ENST00000407332.1_Splice_Site_p.V89F	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	112	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)	p.V145F(1)|p.V89F(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	TTGAAGTAAACCTGCAAGACA	0.587																																																2	Substitution - Missense(2)	kidney(2)											113	112	113					22																	43024287		2203	4300	6503	SO:0001630	splice_region_variant	1727			M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"diaphorase (NADH) (cytochrome b-5 reductase)"	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.334-1G>T	22.37:g.43024287C>A			B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636353	0.29068	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	3.41	3.41	0.39046	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.389002	0.27393	N	0.019576	D	0.93785	0.8013	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.944;0.992	D	0.93820	0.7118	10	0.87932	D	0	-14.6741	8.5369	0.33368	0.0:0.8894:0.0:0.1106	.	145;112	B7Z7L3;P00387	.;NB5R3_HUMAN	F	145;89;112;89;89;89;89	ENSP00000354468:V145F;ENSP00000379597:V89F;ENSP00000338461:V112F;ENSP00000384834:V89F;ENSP00000384457:V89F;ENSP00000385679:V89F;ENSP00000403439:V89F	ENSP00000338461:V112F	V	-	1	0	CYB5R3	41354231	0.998000	0.40836	1.000000	0.80357	0.957000	0.61999	0.464000	0.21988	2.221000	0.72209	0.555000	0.69702	GTT		0.587	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1		Missense_Mutation	A	43024287	C	A	43024287	5	1	446	1	0	0	0	0	0	0	1	0	4130	521	18	4	591	4	CYB5R3	22	43024287	Splice_Site	SNP	C	TCGA-BP-5199-01A-01D-1429-08		43024287	8280279	78	24458											
MSL3	10943	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	11781972	11781973	+	Frame_Shift_Ins	INS	-	-	ATCC			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:11781972_11781973insATCC	ENST00000312196.4	+	8	928_929	c.823_824insATCC	c.(823-825)tatfs	p.-276fs	MSL3_ENST00000398527.2_Frame_Shift_Ins_p.-264fs|MSL3_ENST00000337339.2_Frame_Shift_Ins_p.-276fs|MSL3_ENST00000361672.2_Frame_Shift_Ins_p.-127fs|MSL3_ENST00000380693.3_Frame_Shift_Ins_p.-110fs	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GGTTTTACTCTATCCATATGAA	0.366																																																0																																										SO:0001589	frameshift_variant	10943			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"male-specific lethal-3 (Drosophila)-like 1", "male-specific lethal 3-like 1 (Drosophila)"	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.824_827dupATCC	X.37:g.11781973_11781976dupATCC	ENSP00000312244:p.Pro276fs		A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Frame_Shift_Ins	INS	ENST00000312196.4	37	CCDS14147.1																																																																																				0.366	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		ATCC	11781973	-	ATCC	11781972	7	5	446	1	0	1	1	0	0	0	0	0	9881	1522	53	0	853	0	MSL3	23	11781972	Frame_Shift_Ins	INS	-	TCGA-BP-5199-01A-01D-1429-08		11781972	143488588	79	24459											
SMS	6611	broad.mit.edu;hgsc.bcm.edu	37	X	22002497	22002497	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:22002497G>T	ENST00000404933.2	+	8	1078	c.826G>T	c.(826-828)Gat>Tat	p.D276Y	SMS_ENST00000415881.2_Missense_Mutation_p.D180Y|SMS_ENST00000379404.1_Missense_Mutation_p.D223Y	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	276	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)	p.D180Y(1)|p.D276Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TGTGATTAATGATTTGACAGC	0.393																																																2	Substitution - Missense(2)	kidney(2)											141	120	127					X																	22002497		2203	4300	6503	SO:0001583	missense	6611			AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"Snyder-Robinson X-linked mental retardation syndrome"	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.826G>T	X.37:g.22002497G>T	ENSP00000385746:p.Asp276Tyr		A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	CCDS14203.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188130	0.78789	.	.	ENSG00000102172	ENST00000404933;ENST00000379404;ENST00000415881	D;D;D	0.85411	-1.98;-1.98;-1.98	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.95008	0.8149	10	0.87932	D	0	-26.8216	16.1293	0.81414	0.0:0.0:1.0:0.0	.	180;276	B4DE40;P52788	.;SPSY_HUMAN	Y	276;223;180	ENSP00000385746:D276Y;ENSP00000368714:D223Y;ENSP00000388906:D180Y	ENSP00000368714:D223Y	D	+	1	0	SMS	21912418	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.241000	0.95402	2.090000	0.63153	0.513000	0.50165	GAT		0.393	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		T	22002497	G	T	22002497	3	4	446	1	0	0	0	0	1	0	0	0	14819	1290	45	4	856	4	SMS	23	22002497	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	10220525	22002497	133268063	80	24460											
KLHL4	56062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	86890699	86890699	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:86890699G>A	ENST00000373119.4	+	9	1994	c.1849G>A	c.(1849-1851)Gga>Aga	p.G617R	KLHL4_ENST00000373114.4_Missense_Mutation_p.G617R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	617						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G617R(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CACATACAATGGATTCTTATA	0.458																																																2	Substitution - Missense(2)	kidney(2)											116	99	105					X																	86890699		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1849G>A	X.37:g.86890699G>A	ENSP00000362211:p.Gly617Arg		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192229	0.58017	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.82344	-1.6;-1.6	4.23	4.23	0.50019	Galactose oxidase, beta-propeller (1);	0.188534	0.42053	D	0.000776	D	0.90072	0.6899	M	0.83852	2.665	0.51767	D	0.99993	P;P	0.48998	0.871;0.918	P;P	0.58928	0.848;0.771	D	0.91923	0.5549	10	0.87932	D	0	.	15.0663	0.71999	0.0:0.0:1.0:0.0	.	617;617	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	R	617	ENSP00000362211:G617R;ENSP00000362206:G617R	ENSP00000362206:G617R	G	+	1	0	KLHL4	86777355	1.000000	0.71417	0.998000	0.56505	0.521000	0.34408	5.601000	0.67606	2.086000	0.62901	0.513000	0.50165	GGA		0.458	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			A	86890699	G	A	86890699	3	1	446	1	0	0	0	0	1	0	0	0	8393	1349	47	2	1883	2	KLHL4	23	86890699	Missense_Mutation	SNP	G	TCGA-BP-5199-01A-01D-1429-08	64888202	86890699	68379861	81	24461											
TCEAL4	79921	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	102841696	102841696	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:102841696A>T	ENST00000472745.1	+	3	645	c.93A>T	c.(91-93)gaA>gaT	p.E31D	TCEAL4_ENST00000494801.1_Missense_Mutation_p.E31D|TCEAL4_ENST00000415568.2_Missense_Mutation_p.E31D|TCEAL4_ENST00000468024.1_Missense_Mutation_p.E31D|TCEAL4_ENST00000472484.1_Missense_Mutation_p.E31D|TCEAL4_ENST00000372629.4_Missense_Mutation_p.E174D			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	31	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E174D(1)		endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						GAAAGCCAGAAGTAACTTGTA	0.398																																																1	Substitution - Missense(1)	kidney(1)											88	89	88					X																	102841696		2184	4292	6476	SO:0001583	missense	79921			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.93A>T	X.37:g.102841696A>T	ENSP00000424314:p.Glu31Asp		Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	ENST00000472745.1	37	CCDS14510.2	.	.	.	.	.	.	.	.	.	.	A	10.58	1.390298	0.25118	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000490644;ENST00000459722;ENST00000472745;ENST00000494801;ENST00000434216;ENST00000425011;ENST00000469586	T;T;T;T;T;T;T;T;T;T;T	0.63417	1.64;1.77;1.77;1.77;1.18;1.29;1.77;1.77;-0.04;0.49;1.67	3.72	-0.435	0.12279	.	1.629200	0.03786	N	0.262059	T	0.45357	0.1338	L	0.34521	1.04	0.09310	N	1	P	0.51057	0.941	B	0.39503	0.301	T	0.35400	-0.9790	10	0.20046	T	0.44	.	4.0968	0.09995	0.4446:0.4284:0.127:0.0	.	31	Q96EI5	TCAL4_HUMAN	D	174;31;31;31;31;31;31;31;31;31;31;31	ENSP00000361712:E174D;ENSP00000421857:E31D;ENSP00000421156:E31D;ENSP00000415564:E31D;ENSP00000425883:E31D;ENSP00000423723:E31D;ENSP00000424314:E31D;ENSP00000427494:E31D;ENSP00000411320:E31D;ENSP00000394029:E31D;ENSP00000427053:E31D	ENSP00000361712:E174D	E	+	3	2	TCEAL4	102728352	0.147000	0.22687	0.002000	0.10522	0.974000	0.67602	-0.115000	0.10741	-0.140000	0.11394	0.427000	0.28365	GAA		0.398	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2	NM_024863		T	102841696	A	T	102841696	3	4	446	1	0	0	0	0	1	0	0	0	15678	69	3	5	95	5	TCEAL4	23	102841696	Missense_Mutation	SNP	A	TCGA-BP-5199-01A-01D-1429-08	15950997	102841696	52428864	82	24462											
COL4A6	1288	broad.mit.edu;hgsc.bcm.edu	37	X	107681171	107681171	+	Splice_Site	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:107681171C>A	ENST00000372216.4	-	2	167		c.e2+1		COL4A6_ENST00000394872.2_Splice_Site|COL4A6_ENST00000334504.7_Splice_Site|COL4A6_ENST00000538570.1_Splice_Site|COL4A6_ENST00000461897.1_Splice_Site|COL4A5_ENST00000328300.6_5'Flank|COL4A5_ENST00000361603.2_5'Flank|COL4A6_ENST00000545689.1_Splice_Site	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AAGAGACTCACCGCTGCTGCC	0.552									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Unknown(1)	kidney(1)											87	69	75					X																	107681171		2203	4300	6503	SO:0001630	splice_region_variant	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.66+1G>T	X.37:g.107681171C>A			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Splice_Site	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548316	0.65311	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3185	0.60421	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A6	107567827	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.226000	0.51254	2.450000	0.82876	0.600000	0.82982	.		0.552	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		Intron	A	107681171	C	A	107681171	5	1	446	1	0	0	0	0	0	0	1	0	3697	521	18	4	5184	4	COL4A6	23	107681171	Splice_Site	SNP	C	TCGA-BP-5199-01A-01D-1429-08	4839475	107681171	47589389	83	24463											
ZNF280C	55609	hgsc.bcm.edu;ucsc.edu	37	X	129354384	129354384	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:129354384delT	ENST00000370978.4	-	13	1619	c.1466delA	c.(1465-1467)aagfs	p.K489fs		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATGCTGCGCCTTATGTTCAGC	0.378																																																0													141	127	132					X																	129354384		2203	4300	6503	SO:0001589	frameshift_variant	55609			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1466delA	X.37:g.129354384delT	ENSP00000360017:p.Lys489fs		A8K2V8|Q9NXR3	Frame_Shift_Del	DEL	ENST00000370978.4	37	CCDS14622.1																																																																																				0.378	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		-	129354384	T	-	129354384	7	5	446	1	0	1	0	1	0	0	0	0	17821	1609	56	0	775	0	ZNF280C	23	129354384	Frame_Shift_Del	DEL	T	TCGA-BP-5199-01A-01D-1429-08	21673213	129354384	25916176	84	24464											
MEGF6	1953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	3519075	3519075	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr1:3519075delT	ENST00000356575.4	-	2	447	c.221delA	c.(220-222)aagfs	p.K74fs		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	74	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACAGCCGGCCTTCCACACCGG	0.687																																					Ovarian(73;978 3658)											0													24	31	28					1																	3519075		2118	4216	6334	SO:0001589	frameshift_variant	1953			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.221delA	1.37:g.3519075delT	ENSP00000348982:p.Lys74fs		Q4AC86|Q5VV39	Frame_Shift_Del	DEL	ENST00000356575.4	37	CCDS41237.1																																																																																				0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		-	3519075	T	-	3519075	7	5	447	1	0	1	0	1	0	0	0	0	9464	1609	56	0	4548	0	MEGF6	1	3519075	Frame_Shift_Del	DEL	T	TCGA-BP-5200-01A-01D-1429-08		3519075	245731546	1	24465											
PRKACB	5567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	84610143	84610143	+	Intron	SNP	C	C	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr1:84610143C>A	ENST00000370689.2	+	2	310				PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370685.3_Missense_Mutation_p.H33Q|PRKACB_ENST00000370688.3_Intron	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)	p.H33Q(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TTCATAGACACTCTAAAGGTA	0.403																																																1	Substitution - Missense(1)	kidney(1)											155	151	153					1																	84610143		2203	4300	6503	SO:0001627	intron_variant	5567			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.47-34717C>A	1.37:g.84610143C>A			B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	C	9.813	1.183751	0.21870	.	.	ENSG00000142875	ENST00000370685	T	0.66460	-0.21	5.66	2.46	0.29980	.	0.321368	0.26836	N	0.022243	T	0.18173	0.0436	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.17961	-1.0352	10	0.07175	T	0.84	-10.5873	7.8708	0.29565	0.0:0.5966:0.1191:0.2843	.	33;33	P22694-2;B4E2L0	.;.	Q	33	ENSP00000359719:H33Q	ENSP00000359719:H33Q	H	+	3	2	PRKACB	84382731	0.930000	0.31532	0.998000	0.56505	0.940000	0.58332	0.082000	0.14847	0.701000	0.31803	-0.150000	0.13652	CAC		0.403	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		A	84610143	C	A	84610143	1	1	447	0	1	0	0	0	0	0	0	0	12503	564	20	4		4	PRKACB	1	84610143	Intron	SNP	C	TCGA-BP-5200-01A-01D-1429-08	81091068	84610143	164640478	2	24466											
CENPF	1063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214813680	214813680	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr1:214813680A>C	ENST00000366955.3	+	12	2167	c.1999A>C	c.(1999-2001)Acg>Ccg	p.T667P		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.T667P(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGAGTAAGAACGCTGGAGAT	0.398																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - Missense(1)	kidney(1)											57	55	55					1																	214813680		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1999A>C	1.37:g.214813680A>C	ENSP00000355922:p.Thr667Pro		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579867	0.46006	.	.	ENSG00000117724	ENST00000366955	T	0.03330	3.97	5.69	4.58	0.56647	.	0.190385	0.25929	N	0.027387	T	0.05044	0.0135	.	.	.	0.09310	N	1	D	0.60575	0.988	P	0.48840	0.592	T	0.38329	-0.9666	9	0.30854	T	0.27	.	6.5608	0.22485	0.7904:0.0:0.0721:0.1375	.	667	P49454	CENPF_HUMAN	P	667	ENSP00000355922:T667P	ENSP00000355922:T667P	T	+	1	0	CENPF	212880303	0.004000	0.15560	0.003000	0.11579	0.934000	0.57294	1.224000	0.32539	1.000000	0.39049	0.496000	0.49642	ACG		0.398	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		C	214813680	A	C	214813680	3	2	447	1	0	0	0	0	1	0	0	0	3233	43	2	5	2041	5	CENPF	1	214813680	Missense_Mutation	SNP	A	TCGA-BP-5200-01A-01D-1429-08	130203537	214813680	34436941	3	24467											
OR2B11	127623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247614532	247614532	+	Silent	SNP	G	G	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr1:247614532G>A	ENST00000318749.6	-	1	776	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I251I(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGAGGGAGACGATCATCAGGT	0.512																																																1	Substitution - coding silent(1)	kidney(1)											149	147	147					1																	247614532		2203	4300	6503	SO:0001819	synonymous_variant	127623				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.753C>T	1.37:g.247614532G>A			B2RP03	Silent	SNP	ENST00000318749.6	37	CCDS31090.1																																																																																				0.512	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		A	247614532	G	A	247614532	2	1	447	1	0	0	0	0	0	0	0	1	10990	1048	37	1		1	OR2B11	1	247614532	Silent	SNP	G	TCGA-BP-5200-01A-01D-1429-08	32800852	247614532	1636089	4	24468											
HADHA	3030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	26435464	26435464	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:26435464T>C	ENST00000380649.3	-	10	1079	c.950A>G	c.(949-951)gAt>gGt	p.D317G	HADHA_ENST00000457468.2_Missense_Mutation_p.D230G	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	317					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.D230G(1)|p.D317G(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAACCGGCATCACTCCCTTG	0.358																																																2	Substitution - Missense(2)	kidney(2)											125	116	119					2																	26435464		2203	4300	6503	SO:0001583	missense	3030			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.950A>G	2.37:g.26435464T>C	ENSP00000370023:p.Asp317Gly		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	T	7.253	0.603655	0.14002	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.73469	-0.75;-0.75	5.32	4.15	0.48705	.	0.530450	0.22724	N	0.056407	T	0.66645	0.2810	L	0.47716	1.5	0.09310	N	0.999998	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.58295	-0.7661	10	0.48119	T	0.1	-34.6043	10.8653	0.46851	0.1413:0.0:0.0:0.8587	.	230;317;317	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	G	317;230	ENSP00000370023:D317G;ENSP00000405344:D230G	ENSP00000370023:D317G	D	-	2	0	HADHA	26288968	0.947000	0.32204	0.196000	0.23383	0.307000	0.27823	3.175000	0.50855	0.945000	0.37605	-0.336000	0.08194	GAT		0.358	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		C	26435464	T	C	26435464	3	2	447	1	0	0	0	0	1	0	0	0	6945	1435	50	3	1385	3	HADHA	2	26435464	Missense_Mutation	SNP	T	TCGA-BP-5200-01A-01D-1429-08		26435464	216763909	5	24469											
MAP4K3	8491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39564108	39564108	+	Splice_Site	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:39564108C>T	ENST00000263881.3	-	6	691	c.367G>A	c.(367-369)Gga>Aga	p.G123R	MAP4K3_ENST00000437545.1_Splice_Site_p.G60R|MAP4K3_ENST00000341681.5_Splice_Site_p.G123R	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.G123R(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TAATATAATCCCTGGAGTTTC	0.259																																																1	Substitution - Missense(1)	kidney(1)											24	29	27					2																	39564108		2132	4190	6322	SO:0001630	splice_region_variant	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.367-1G>A	2.37:g.39564108C>T			Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747896	0.89663	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.38240	1.15;2.04;1.15	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77011	0.4068	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85873	0.1417	9	.	.	.	.	19.5343	0.95242	0.0:1.0:0.0:0.0	.	123;123	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	R	123;60;123	ENSP00000263881:G123R;ENSP00000416958:G60R;ENSP00000345434:G123R	.	G	-	1	0	MAP4K3	39417612	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.275000	0.72594	2.787000	0.95880	0.650000	0.86243	GGA		0.259	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	Missense_Mutation	T	39564108	C	T	39564108	5	4	447	1	0	0	0	0	0	0	1	0	9263	637	22	2	2433	2	MAP4K3	2	39564108	Splice_Site	SNP	C	TCGA-BP-5200-01A-01D-1429-08	13128644	39564108	203635265	6	24470											
WDR92	116143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	68371743	68371743	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:68371743G>T	ENST00000295121.6	-	3	505	c.389C>A	c.(388-390)cCt>cAt	p.P130H	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.P130H|WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000406245.2_Missense_Mutation_p.P29H	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	130					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)	p.P130H(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CACAATTTCAGGTGCTCCTTC	0.398																																																1	Substitution - Missense(1)	kidney(1)											134	133	133					2																	68371743		2203	4300	6503	SO:0001583	missense	116143			AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"WD repeat domain containing"	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.389C>A	2.37:g.68371743G>T	ENSP00000295121:p.Pro130His		Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823778	0.90873	.	.	ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164	T;T;T	0.61274	0.12;0.12;0.12	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.77465	0.4134	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75252	-0.3383	10	0.52906	T	0.07	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	130	Q96MX6	WDR92_HUMAN	H	130;29;130	ENSP00000295121:P130H;ENSP00000384518:P29H;ENSP00000386746:P130H	ENSP00000295121:P130H	P	-	2	0	WDR92	68225247	1.000000	0.71417	0.898000	0.35279	0.956000	0.61745	7.603000	0.82811	2.937000	0.99478	0.650000	0.86243	CCT		0.398	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		T	68371743	G	T	68371743	3	4	447	1	0	0	0	0	1	0	0	0	17344	1000	35	4	708	4	WDR92	2	68371743	Missense_Mutation	SNP	G	TCGA-BP-5200-01A-01D-1429-08	28807635	68371743	174827630	7	24471											
DDX18	8886	broad.mit.edu;hgsc.bcm.edu	37	2	118578782	118578782	+	Missense_Mutation	SNP	A	A	G	rs371138301		TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:118578782A>G	ENST00000263239.2	+	4	688	c.560A>G	c.(559-561)aAt>aGt	p.N187S	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	187					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.N187S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATCTTGTCAATGAAAACACT	0.308													A|||	1	0.000199681	0.0	0.0	5008	,	,		19551	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											60	61	61					2																	118578782		2202	4297	6499	SO:0001583	missense	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.560A>G	2.37:g.118578782A>G	ENSP00000263239:p.Asn187Ser		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	A	2.721	-0.266537	0.05754	.	.	ENSG00000088205	ENST00000263239	T	0.01599	4.74	5.0	3.84	0.44239	RNA helicase, DEAD-box type, Q motif (1);	0.087511	0.85682	N	0.000000	T	0.00845	0.0028	N	0.05078	-0.115	0.35485	D	0.798496	B	0.02656	0.0	B	0.01281	0.0	T	0.37753	-0.9692	10	0.02654	T	1	6.2231	5.7808	0.18306	0.7578:0.0:0.2422:0.0	.	187	Q9NVP1	DDX18_HUMAN	S	187	ENSP00000263239:N187S	ENSP00000263239:N187S	N	+	2	0	DDX18	118295252	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.706000	0.61845	1.038000	0.40049	0.528000	0.53228	AAT		0.308	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		G	118578782	A	G	118578782	3	3	447	1	0	0	0	0	1	0	0	0	4347	101	4	3	574	3	DDX18	2	118578782	Missense_Mutation	SNP	A	TCGA-BP-5200-01A-01D-1429-08	50207039	118578782	124620591	8	24472											
RQCD1	9125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219457120	219457120	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:219457120A>C	ENST00000273064.6	+	6	1009	c.634A>C	c.(634-636)Atc>Ctc	p.I212L	RQCD1_ENST00000295701.5_Missense_Mutation_p.I212L|RQCD1_ENST00000509807.2_Missense_Mutation_p.I244L|RQCD1_ENST00000542068.1_Missense_Mutation_p.I212L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	212					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I212L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTTGCCATGATCTTGGTGAG	0.413																																																1	Substitution - Missense(1)	kidney(1)											275	246	256					2																	219457120		2203	4300	6503	SO:0001583	missense	9125			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"cancer/testis antigen 129"	612054	"rcd1 (required for cell differentiation, S.pombe) homolog 1"			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.634A>C	2.37:g.219457120A>C	ENSP00000273064:p.Ile212Leu		B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	37	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625833	0.66901	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701;ENST00000418808	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	L	0.42245	1.32	0.80722	D	1	P;B;B	0.37636	0.603;0.155;0.036	P;P;P	0.51999	0.588;0.687;0.492	T	0.49051	-0.8979	10	0.42905	T	0.14	-17.8086	15.4877	0.75578	1.0:0.0:0.0:0.0	.	244;212;212	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	L	212;244;212;212;28	ENSP00000273064:I212L;ENSP00000441357:I244L;ENSP00000443687:I212L;ENSP00000295701:I212L;ENSP00000396938:I28L	ENSP00000273064:I212L	I	+	1	0	RQCD1	219165364	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.097000	0.94193	2.248000	0.74166	0.533000	0.62120	ATC		0.413	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		C	219457120	A	C	219457120	3	2	447	1	0	0	0	0	1	0	0	0	13676	333	12	5	656	5	RQCD1	2	219457120	Missense_Mutation	SNP	A	TCGA-BP-5200-01A-01D-1429-08	100878338	219457120	23742253	9	24473											
SLC19A3	80704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228564091	228564091	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:228564091C>A	ENST00000258403.3	-	3	411	c.340G>T	c.(340-342)Ggg>Tgg	p.G114W	SLC19A3_ENST00000541617.1_Missense_Mutation_p.G110W|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	114					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.G114W(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GTGACCATCCCATAGAAGAAC	0.547																																																1	Substitution - Missense(1)	kidney(1)											101	101	101					2																	228564091		2203	4300	6503	SO:0001583	missense	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.340G>T	2.37:g.228564091C>A	ENSP00000258403:p.Gly114Trp			Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578035	0.65878	.	.	ENSG00000135917	ENST00000258403;ENST00000541617;ENST00000456524	D;D;T	0.90504	-2.68;-2.68;-1.08	5.8	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);	0.045807	0.85682	D	0.000000	D	0.96546	0.8873	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.989;1.0	D	0.97487	1.0051	10	0.87932	D	0	-16.9347	14.6008	0.68441	0.0:0.9302:0.0:0.0698	.	110;114	F5H2M8;Q9BZV2	.;S19A3_HUMAN	W	114;110;114	ENSP00000258403:G114W;ENSP00000445519:G110W;ENSP00000399001:G114W	ENSP00000258403:G114W	G	-	1	0	SLC19A3	228272335	0.997000	0.39634	0.149000	0.22428	0.377000	0.30045	6.079000	0.71291	1.454000	0.47793	0.655000	0.94253	GGG		0.547	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			A	228564091	C	A	228564091	3	1	447	1	0	0	0	0	1	0	0	0	14436	594	21	4	1166	4	SLC19A3	2	228564091	Missense_Mutation	SNP	C	TCGA-BP-5200-01A-01D-1429-08	9106971	228564091	14635282	10	24474											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643743	52643743	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr3:52643743T>C	ENST00000296302.7	-	16	2154	c.2153A>G	c.(2152-2154)tAc>tGc	p.Y718C	PBRM1_ENST00000409767.1_Missense_Mutation_p.Y733C|PBRM1_ENST00000410007.1_Missense_Mutation_p.Y718C|PBRM1_ENST00000356770.4_Missense_Mutation_p.Y686C|PBRM1_ENST00000337303.4_Missense_Mutation_p.Y718C|PBRM1_ENST00000409114.3_Missense_Mutation_p.Y733C|PBRM1_ENST00000394830.3_Missense_Mutation_p.Y718C|PBRM1_ENST00000409057.1_Missense_Mutation_p.Y718C			Q86U86	PB1_HUMAN	polybromo 1	718	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y718C(2)|p.Y686C(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATATCTTGGTACTTGTTGGC	0.403			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											169	161	163					3																	52643743		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2153A>G	3.37:g.52643743T>C	ENSP00000296302:p.Tyr718Cys		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	21.4	4.138620	0.77775	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	6.17	6.17	0.99709	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	H	0.98407	4.225	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.92361	0.5897	10	0.87932	D	0	-9.0023	16.8222	0.85835	0.0:0.0:0.0:1.0	.	718;93;718;718;718;718;733;733;718;686;718	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	C	686;718;718;718;718;718;733;733;718;677	ENSP00000349213:Y686C;ENSP00000378307:Y718C;ENSP00000296302:Y718C;ENSP00000338302:Y718C;ENSP00000386593:Y718C;ENSP00000386529:Y718C;ENSP00000386643:Y733C;ENSP00000386601:Y733C;ENSP00000387775:Y718C;ENSP00000397662:Y677C	ENSP00000296302:Y718C	Y	-	2	0	PBRM1	52618783	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.013000	0.88655	2.371000	0.80710	0.533000	0.62120	TAC		0.403	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52643743	T	C	52643743	3	2	447	1	0	0	0	0	1	0	0	0	11493	1638	57	3	2807	3	PBRM1	3	52643743	Missense_Mutation	SNP	T	TCGA-BP-5200-01A-01D-1429-08		52643743	145378687	11	24475											
SEPT11	55752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77932908	77932908	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr4:77932908A>G	ENST00000264893.6	+	4	560	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	SEPT11_ENST00000541121.1_Missense_Mutation_p.Y130C|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000502584.1_Missense_Mutation_p.Y120C|SEPT11_ENST00000505788.1_Missense_Mutation_p.Y120C|SEPT11_ENST00000510515.1_Missense_Mutation_p.Y130C	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	120	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.Y120C(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						ATAGTAGAATATATTGATGCC	0.428																																																1	Substitution - Missense(1)	kidney(1)											129	118	122					4																	77932908		2203	4300	6503	SO:0001583	missense	55752			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.359A>G	4.37:g.77932908A>G	ENSP00000264893:p.Tyr120Cys		B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.625245	0.66901	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000512778;ENST00000541121	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000006	T	0.78635	0.4314	H	0.99011	4.4	0.50813	D	0.999896	P;P	0.40731	0.681;0.728	P;P	0.49999	0.495;0.628	D	0.86363	0.1718	10	0.87932	D	0	.	14.0613	0.64802	1.0:0.0:0.0:0.0	.	130;120	Q9NVA2-2;Q9NVA2	.;SEP11_HUMAN	C	120;120;112;120;130;130;130	ENSP00000264893:Y120C;ENSP00000426344:Y120C;ENSP00000420839:Y112C;ENSP00000424925:Y120C;ENSP00000422896:Y130C;ENSP00000422047:Y130C;ENSP00000443701:Y130C	ENSP00000264893:Y120C	Y	+	2	0	SEPT11	78151932	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.805000	0.62561	1.796000	0.52611	0.383000	0.25322	TAT		0.428	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		G	77932908	A	G	77932908	3	3	447	1	0	0	0	0	1	0	0	0	14067	449	16	3	373	3	SEPT11	4	77932908	Missense_Mutation	SNP	A	TCGA-BP-5200-01A-01D-1429-08		77932908	113221368	12	24476											
FNIP2	57600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	159754698	159754698	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr4:159754698G>T	ENST00000264433.6	+	6	648	c.573G>T	c.(571-573)gaG>gaT	p.E191D	FNIP2_ENST00000379346.3_Missense_Mutation_p.E214D	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	191					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E191D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		ACAGCTTTGAGTACATCAACC	0.398																																																1	Substitution - Missense(1)	kidney(1)											110	104	106					4																	159754698		1861	4087	5948	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.573G>T	4.37:g.159754698G>T	ENSP00000264433:p.Glu191Asp		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461587	0.43736	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346;ENST00000504715	T;T;T;T	0.40476	1.72;1.74;1.7;1.03	5.55	-0.986	0.10252	.	.	.	.	.	T	0.47303	0.1438	M	0.80028	2.48	0.41517	D	0.988377	P;B	0.40083	0.702;0.264	P;B	0.44447	0.45;0.209	T	0.48603	-0.9021	8	.	.	.	.	10.3658	0.44024	0.5745:0.0:0.4254:0.0	.	191;214	Q9P278;D6RFH5	FNIP2_HUMAN;.	D	191;214;214;26	ENSP00000264433:E191D;ENSP00000421488:E214D;ENSP00000368651:E214D;ENSP00000420841:E26D	.	E	+	3	2	FNIP2	159974148	0.999000	0.42202	0.990000	0.47175	0.992000	0.81027	0.598000	0.24074	-0.392000	0.07751	-0.302000	0.09304	GAG		0.398	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		T	159754698	G	T	159754698	3	4	447	1	0	0	0	0	1	0	0	0	5978	1020	36	4	595	4	FNIP2	4	159754698	Missense_Mutation	SNP	G	TCGA-BP-5200-01A-01D-1429-08	81821790	159754698	31399578	13	24477											
ADAMTS12	81792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33683193	33683193	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr5:33683193A>T	ENST00000504830.1	-	5	1180	c.845T>A	c.(844-846)tTc>tAc	p.F282Y	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.F282Y|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	282	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F282Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGGTTATGGAACAACCCAGT	0.388										HNSCC(64;0.19)																																						1	Substitution - Missense(1)	kidney(1)											94	85	88					5																	33683193		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.845T>A	5.37:g.33683193A>T	ENSP00000422554:p.Phe282Tyr		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250396	0.80024	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.83591	-1.74;-1.74	5.42	5.42	0.78866	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	N	0.03115	-0.41	0.80722	D	1	P;P	0.51537	0.946;0.938	P;P	0.56700	0.507;0.804	T	0.75671	-0.3237	10	0.17369	T	0.5	.	15.4585	0.75336	1.0:0.0:0.0:0.0	.	282;282	P58397-3;P58397	.;ATS12_HUMAN	Y	282	ENSP00000422554:F282Y;ENSP00000344847:F282Y	ENSP00000344847:F282Y	F	-	2	0	ADAMTS12	33718950	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.758000	0.68776	2.043000	0.60533	0.519000	0.50382	TTC		0.388	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33683193	A	T	33683193	3	4	447	1	0	0	0	0	1	0	0	0	257	246	9	5	4019	5	ADAMTS12	5	33683193	Missense_Mutation	SNP	A	TCGA-BP-5200-01A-01D-1429-08		33683193	147232067	14	24478											
ZFYVE16	9765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	79769670	79769670	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr5:79769670T>A	ENST00000338008.5	+	16	4465	c.4285T>A	c.(4285-4287)Tgt>Agt	p.C1429S	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.C1429S|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.C1429S	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1429					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.C1429S(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GATTGTAAAATGTACCGAGGT	0.333																																					Melanoma(150;1452 1854 16018 17851 37292)											1	Substitution - Missense(1)	kidney(1)											58	62	61					5																	79769670		2203	4298	6501	SO:0001583	missense	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.4285T>A	5.37:g.79769670T>A	ENSP00000337159:p.Cys1429Ser		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772769	0.69992	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.38887	1.11;1.11;1.11	5.97	5.97	0.96955	Domain of unknown function DUF3480 (1);	0.000000	0.64402	D	0.000007	T	0.62829	0.2460	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.63046	0.991;0.992	D;D	0.72338	0.909;0.977	T	0.65504	-0.6152	10	0.72032	D	0.01	-11.6822	14.6833	0.69033	0.0:0.0:0.0:1.0	.	239;1429	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	S	1429	ENSP00000337159:C1429S;ENSP00000423663:C1429S;ENSP00000426848:C1429S	ENSP00000337159:C1429S	C	+	1	0	ZFYVE16	79805426	1.000000	0.71417	0.998000	0.56505	0.490000	0.33462	6.680000	0.74518	2.285000	0.76669	0.477000	0.44152	TGT		0.333	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		A	79769670	T	A	79769670	3	1	447	1	0	0	0	0	1	0	0	0	17669	1464	51	5	4343	5	ZFYVE16	5	79769670	Missense_Mutation	SNP	T	TCGA-BP-5200-01A-01D-1429-08	46086477	79769670	101145590	15	24479											
TMCO6	55374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140024201	140024201	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr5:140024201A>G	ENST00000394671.3	+	11	1345	c.1244A>G	c.(1243-1245)tAc>tGc	p.Y415C	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.Y421C|TMCO6_ENST00000537378.1_Missense_Mutation_p.Y175C	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	415					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.Y415C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCCTGCTTACTGCCAGCGG	0.488																																																1	Substitution - Missense(1)	kidney(1)											142	135	137					5																	140024201		1919	4136	6055	SO:0001583	missense	55374			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1244A>G	5.37:g.140024201A>G	ENSP00000378166:p.Tyr415Cys		Q9BUU0|Q9P198	Missense_Mutation	SNP	ENST00000394671.3	37	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321726	0.81580	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.66995	-0.24;-0.24;-0.24	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.75488	0.3856	L	0.36672	1.1	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.76629	-0.2889	10	0.54805	T	0.06	-8.803	16.227	0.82300	1.0:0.0:0.0:0.0	.	421;415	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	C	415;175;421	ENSP00000378166:Y415C;ENSP00000444474:Y175C;ENSP00000252100:Y421C	ENSP00000252100:Y421C	Y	+	2	0	TMCO6	140004385	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.328000	0.59253	2.302000	0.77476	0.533000	0.62120	TAC		0.488	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		G	140024201	A	G	140024201	3	3	447	1	0	0	0	0	1	0	0	0	16005	391	14	3	1286	3	TMCO6	5	140024201	Missense_Mutation	SNP	A	TCGA-BP-5200-01A-01D-1429-08	60254531	140024201	40891059	16	24480											
RGL2	5863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33259932	33259932	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr6:33259932A>G	ENST00000497454.1	-	18	2776	c.2281T>C	c.(2281-2283)Tcc>Ccc	p.S761P	WDR46_ENST00000477718.1_5'Flank|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|WDR46_ENST00000374617.4_5'Flank	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	761					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.S761P(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTGGGAAAGGAGCCCCCTCCT	0.597																																																1	Substitution - Missense(1)	kidney(1)											65	60	62					6																	33259932		2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2281T>C	6.37:g.33259932A>G	ENSP00000420211:p.Ser761Pro		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137629	0.56936	.	.	ENSG00000237441	ENST00000497454	T	0.12361	2.69	5.64	5.64	0.86602	.	0.071226	0.56097	D	0.000024	T	0.10380	0.0254	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.06698	-1.0812	10	0.62326	D	0.03	.	12.249	0.54587	1.0:0.0:0.0:0.0	.	761	O15211	RGL2_HUMAN	P	761	ENSP00000420211:S761P	ENSP00000420211:S761P	S	-	1	0	RGL2	33367910	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.340000	0.43974	2.138000	0.66242	0.523000	0.50628	TCC		0.597	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			G	33259932	A	G	33259932	3	3	447	1	0	0	0	0	1	0	0	0	13283	304	11	3	56	3	RGL2	6	33259932	Missense_Mutation	SNP	A	TCGA-BP-5200-01A-01D-1429-08		33259932	137855135	17	24481											
MCHR2	84539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	100390871	100390871	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr6:100390871C>A	ENST00000281806.2	-	4	855	c.541G>T	c.(541-543)Gtt>Ttt	p.V181F	MCHR2_ENST00000369212.2_Missense_Mutation_p.V181F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V181F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAACTCTCAACACCGTCTTTA	0.423																																																1	Substitution - Missense(1)	kidney(1)											157	143	148					6																	100390871		2203	4300	6503	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.541G>T	6.37:g.100390871C>A	ENSP00000281806:p.Val181Phe		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	6.994	0.553609	0.13374	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.37752	1.18;1.18;1.18	5.05	0.973	0.19710	GPCR, rhodopsin-like superfamily (1);	0.735468	0.11832	N	0.525092	T	0.07279	0.0184	L	0.38838	1.175	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.39375	-0.9617	10	0.10111	T	0.7	.	3.7154	0.08435	0.3223:0.393:0.0:0.2847	.	181	Q969V1	MCHR2_HUMAN	F	181	ENSP00000403490:V181F;ENSP00000281806:V181F;ENSP00000358214:V181F	ENSP00000281806:V181F	V	-	1	0	MCHR2	100497592	0.265000	0.24102	0.003000	0.11579	0.803000	0.45373	0.734000	0.26101	0.253000	0.21552	-0.150000	0.13652	GTT		0.423	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		A	100390871	C	A	100390871	3	1	447	1	0	0	0	0	1	0	0	0	9385	478	17	4	493	4	MCHR2	6	100390871	Missense_Mutation	SNP	C	TCGA-BP-5200-01A-01D-1429-08	67130939	100390871	70724196	18	24482											
ALDOB	229	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104187208	104187208	+	Silent	SNP	G	G	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr9:104187208G>A	ENST00000374855.4	-	8	1040	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	306					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.L306L(1)|p.L306M(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CTGGCCTGCAGGGCCCGTCCA	0.552																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)											83	81	82					9																	104187208		2203	4300	6503	SO:0001819	synonymous_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.916C>T	9.37:g.104187208G>A			Q13741|Q13742|Q5T7D6	Silent	SNP	ENST00000374855.4	37	CCDS6756.1																																																																																				0.552	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			A	104187208	G	A	104187208	2	1	447	1	0	0	0	0	0	0	0	1	508	991	35	2		2	ALDOB	9	104187208	Silent	SNP	G	TCGA-BP-5200-01A-01D-1429-08		104187208	37026223	19	24483											
ODF2	4957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131245102	131245102	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr9:131245102T>C	ENST00000434106.3	+	10	1286	c.923T>C	c.(922-924)cTg>cCg	p.L308P	ODF2_ENST00000351030.3_Missense_Mutation_p.L303P|ODF2_ENST00000448249.3_Missense_Mutation_p.L227P|ODF2_ENST00000372814.3_Missense_Mutation_p.L352P|ODF2_ENST00000444119.2_Missense_Mutation_p.L284P|ODF2_ENST00000393527.3_Missense_Mutation_p.L284P|ODF2_ENST00000546203.1_Missense_Mutation_p.L289P|ODF2_ENST00000372807.5_Missense_Mutation_p.L303P|ODF2_ENST00000393533.2_Missense_Mutation_p.L308P|ODF2_ENST00000604420.1_Missense_Mutation_p.L308P|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000372791.3_Missense_Mutation_p.L289P	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	308					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.L284P(1)|p.L308P(1)|p.L352P(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCGCCTGCTGTTACTGCTG	0.522																																																3	Substitution - Missense(3)	kidney(3)											72	78	76					9																	131245102		2203	4300	6503	SO:0001583	missense	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.923T>C	9.37:g.131245102T>C	ENSP00000403453:p.Leu308Pro		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.788460	0.49997	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;1.9;0.9;0.9;0.9	5.66	4.53	0.55603	.	0.755955	0.12779	N	0.439847	T	0.36110	0.0955	L	0.29908	0.895	0.80722	D	1	D;D;D;P;D;D;P;D;D;D	0.60575	0.967;0.966;0.967;0.928;0.988;0.959;0.941;0.967;0.966;0.966	P;P;P;P;P;P;P;P;P;P	0.50708	0.461;0.648;0.6;0.566;0.648;0.464;0.648;0.461;0.648;0.648	T	0.14200	-1.0481	10	0.39692	T	0.17	-8.6385	4.3418	0.11113	0.2705:0.0854:0.0:0.6441	.	289;303;227;242;308;352;303;289;308;284	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	P	308;352;303;308;284;227;289;289	ENSP00000377166:L308P;ENSP00000361901:L352P;ENSP00000342581:L303P;ENSP00000361882:L308P;ENSP00000307781:L284P;ENSP00000396687:L227P;ENSP00000437579:L289P;ENSP00000361877:L289P	ENSP00000307781:L284P	L	+	2	0	ODF2	130284923	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	1.870000	0.39529	2.153000	0.67306	0.459000	0.35465	CTG		0.522	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			C	131245102	T	C	131245102	3	2	447	1	0	0	0	0	1	0	0	0	10829	1580	55	3	1012	3	ODF2	9	131245102	Missense_Mutation	SNP	T	TCGA-BP-5200-01A-01D-1429-08	27057894	131245102	9968329	20	24484											
STAM	8027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	17750824	17750824	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr10:17750824C>T	ENST00000377524.3	+	13	1474	c.1259C>T	c.(1258-1260)gCg>gTg	p.A420V	STAM_ENST00000540523.1_Missense_Mutation_p.A309V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	420					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)	p.A420V(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAGGGAACGCGCAGATGAGC	0.522																																																1	Substitution - Missense(1)	kidney(1)											90	89	89					10																	17750824		2203	4300	6503	SO:0001583	missense	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1259C>T	10.37:g.17750824C>T	ENSP00000366746:p.Ala420Val		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	7.945	0.743665	0.15642	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.39406	1.37;1.08	5.82	4.91	0.64330	.	0.270759	0.35525	N	0.003143	T	0.34803	0.0910	L	0.57536	1.79	0.44079	D	0.996833	P;P	0.45428	0.858;0.571	B;B	0.31869	0.137;0.04	T	0.22417	-1.0217	10	0.17369	T	0.5	-11.1172	16.8978	0.86105	0.0:0.8717:0.1283:0.0	.	309;420	B4DZT2;Q92783	.;STAM1_HUMAN	V	420;309	ENSP00000366746:A420V;ENSP00000438073:A309V	ENSP00000366746:A420V	A	+	2	0	STAM	17790830	0.998000	0.40836	0.062000	0.19696	0.188000	0.23474	4.143000	0.58051	1.442000	0.47568	0.591000	0.81541	GCG		0.522	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		T	17750824	C	T	17750824	3	4	447	1	0	0	0	0	1	0	0	0	15253	768	27	1	1309	1	STAM	10	17750824	Missense_Mutation	SNP	C	TCGA-BP-5200-01A-01D-1429-08		17750824	117783923	21	24485											
LDB3	11155	broad.mit.edu	37	10	88466360	88466360	+	Silent	SNP	A	A	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr10:88466360A>C	ENST00000361373.4	+	7	990	c.969A>C	c.(967-969)ccA>ccC	p.P323P	LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000458213.2_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3									p.P323P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCCCAGCCACCTGCTGCTG	0.667																																																1	Substitution - coding silent(1)	kidney(1)											61	66	64					10																	88466360		2203	4293	6496	SO:0001819	synonymous_variant	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.969A>C	10.37:g.88466360A>C				Silent	SNP	ENST00000361373.4	37	CCDS7377.1																																																																																				0.667	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			C	88466360	A	C	88466360	2	2	447	1	0	0	0	0	0	0	0	1	8699	146	6	5		5	LDB3	10	88466360	Silent	SNP	A	TCGA-BP-5200-01A-01D-1429-08	70715536	88466360	47068387	22	24486											
PNLIP	5406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	118305651	118305651	+	Splice_Site	SNP	G	G	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr10:118305651G>C	ENST00000369221.2	+	2	74		c.e2+1		PNLIP_ENST00000470562.1_Splice_Site	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.?(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GCAGTAGCAGGTAAGAAAACA	0.433																																																2	Unknown(2)	kidney(2)											107	101	103					10																	118305651		2203	4300	6503	SO:0001630	splice_region_variant	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.46+1G>C	10.37:g.118305651G>C			Q5VSQ2	Splice_Site	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947354	0.53186	.	.	ENSG00000175535	ENST00000369221	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7802	0.69760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIP	118295641	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.150000	0.58098	2.854000	0.98071	0.655000	0.94253	.		0.433	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	Intron	C	118305651	G	C	118305651	5	2	447	1	0	0	0	0	0	0	1	0	12151	1275	44	4	49	4	PNLIP	10	118305651	Splice_Site	SNP	G	TCGA-BP-5200-01A-01D-1429-08	29839291	118305651	17229096	23	24487											
PC	5091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66619326	66619326	+	Silent	SNP	G	G	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr11:66619326G>A	ENST00000393958.2	-	15	2010	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Silent_p.F639F|PC_ENST00000393960.1_Silent_p.F639F|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	639	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.F639F(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCAGCATCTGGAAAGGGATGT	0.637																																																1	Substitution - coding silent(1)	kidney(1)											72	68	70					11																	66619326		2200	4295	6495	SO:0001819	synonymous_variant	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1917C>T	11.37:g.66619326G>A			B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																				0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		A	66619326	G	A	66619326	2	1	447	1	0	0	0	0	0	0	0	1	11499	1165	41	2		2	PC	11	66619326	Silent	SNP	G	TCGA-BP-5200-01A-01D-1429-08		66619326	68387190	24	24488											
MAML2	84441	broad.mit.edu	37	11	96074938	96074938	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr11:96074938C>T	ENST00000524717.1	-	1	1406	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	MIR1260B_ENST00000582890.1_RNA	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	41					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.R41Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GATCCGAGCCCGGAGGCGCTC	0.662			T	"MECT1, CRTC3"	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - Missense(1)	kidney(1)											18	20	19					11																	96074938		2039	4196	6235	SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.122G>A	11.37:g.96074938C>T	ENSP00000434552:p.Arg41Gln	1317	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230548	0.79688	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.71698	-0.59;-0.59	4.78	4.78	0.61160	Neurogenic mastermind-like, N-terminal (1);	.	.	.	.	T	0.81216	0.4776	L	0.54323	1.7	0.36252	D	0.853961	D	0.89917	1.0	D	0.87578	0.998	D	0.85975	0.1479	9	0.62326	D	0.03	.	16.6146	0.84903	0.0:1.0:0.0:0.0	.	41	Q8IZL2	MAML2_HUMAN	Q	41	ENSP00000434552:R41Q;ENSP00000412394:R41Q	ENSP00000412394:R41Q	R	-	2	0	MAML2	95714586	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.193000	0.72075	2.225000	0.72522	0.561000	0.74099	CGG		0.662	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	96074938	C	T	96074938	3	4	447	1	0	0	0	0	1	0	0	0	9208	652	23	1	3368	1	MAML2	11	96074938	Missense_Mutation	SNP	C	TCGA-BP-5200-01A-01D-1429-08	29455612	96074938	38931578	25	24489											
NCAM1	4684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	113133587	113133587	+	Silent	SNP	T	T	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr11:113133587T>C	ENST00000533760.1	+	17	2366	c.1767T>C	c.(1765-1767)tcT>tcC	p.S589S	NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGGCAATTCTGCATCCTACA	0.438																																																0													157	153	154					11																	113133587		1926	4128	6054	SO:0001819	synonymous_variant	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1767T>C	11.37:g.113133587T>C			A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37																																																																																					0.438	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		C	113133587	T	C	113133587	2	2	447	1	0	0	0	0	0	0	0	1	10204	1567	55	3		3	NCAM1	11	113133587	Silent	SNP	T	TCGA-BP-5200-01A-01D-1429-08	17058649	113133587	21872929	26	24490											
TPTE2	93492	broad.mit.edu;hgsc.bcm.edu	37	13	20024477	20024477	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr13:20024477T>G	ENST00000400230.2	-	12	854	c.810A>C	c.(808-810)agA>agC	p.R270S	TPTE2_ENST00000390680.2_Missense_Mutation_p.R193S|TPTE2_ENST00000382975.4_Missense_Mutation_p.R230S|TPTE2_ENST00000457266.2_Missense_Mutation_p.R159S|TPTE2_ENST00000255310.6_Missense_Mutation_p.R193S|TPTE2_ENST00000382977.4_Missense_Mutation_p.R270S|TPTE2_ENST00000400103.2_Missense_Mutation_p.R159S|TPTE2_ENST00000382978.1_Missense_Mutation_p.R230S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	270	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R193S(1)|p.R270S(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GATCATAAGCTCTTTCACCTA	0.299																																																2	Substitution - Missense(2)	kidney(2)											42	48	46					13																	20024477		2193	4261	6454	SO:0001583	missense	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.810A>C	13.37:g.20024477T>G	ENSP00000383089:p.Arg270Ser		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	t	8.903	0.956846	0.18507	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	2.76	0.256	0.15567	Phosphatase tensin type (1);	0.160143	0.53938	D	0.000049	T	0.36386	0.0965	M	0.88241	2.94	0.29845	N	0.828939	P;P;P	0.42941	0.474;0.501;0.794	B;B;B	0.41764	0.261;0.139;0.366	T	0.37957	-0.9683	9	.	.	.	-6.0508	5.9468	0.19223	0.0:0.2576:0.0:0.7424	.	159;193;270	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	230;159;270;193;193;270;230;159;270;139	ENSP00000372438:R230S;ENSP00000382974:R159S;ENSP00000383089:R270S;ENSP00000255310:R193S;ENSP00000375098:R193S;ENSP00000372437:R270S;ENSP00000372435:R230S;ENSP00000442218:R159S	.	R	-	3	2	TPTE2	18922477	1.000000	0.71417	0.083000	0.20561	0.035000	0.12851	2.545000	0.45769	0.062000	0.16340	-0.540000	0.04249	AGA		0.299	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		G	20024477	T	G	20024477	3	3	447	1	0	0	0	0	1	0	0	0	16436	1548	54	5	794	5	TPTE2	13	20024477	Missense_Mutation	SNP	T	TCGA-BP-5200-01A-01D-1429-08		20024477	95145401	27	24491											
OR4E2	26686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	22133740	22133740	+	Silent	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr14:22133740C>T	ENST00000408935.1	+	1	444	c.444C>T	c.(442-444)ctC>ctT	p.L148L		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L148L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCTTTGCTCTCTGGTTGGGGG	0.478																																																1	Substitution - coding silent(1)	kidney(1)											158	155	156					14																	22133740		2004	4168	6172	SO:0001819	synonymous_variant	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.444C>T	14.37:g.22133740C>T			Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	CCDS41916.1																																																																																				0.478	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			T	22133740	C	T	22133740	2	4	447	1	0	0	0	0	0	0	0	1	11062	900	32	2		2	OR4E2	14	22133740	Silent	SNP	C	TCGA-BP-5200-01A-01D-1429-08		22133740	85215800	28	24492											
C14orf104	55172	broad.mit.edu;hgsc.bcm.edu	37	14	50100543	50100543	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr14:50100543C>T	ENST00000298292.8	-	1	1405	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K	DNAAF2_ENST00000406043.3_Missense_Mutation_p.R442K	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	442					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)		p.R442K(2)		kidney(1)|lung(4)	5						CCCCGCGTGCCTGCTCAAGTC	0.716																																																2	Substitution - Missense(2)	kidney(2)											7	8	8					14																	50100543		2096	4209	6305	SO:0001583	missense	0			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1325G>A	14.37:g.50100543C>T	ENSP00000298292:p.Arg442Lys		B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	C	6.314	0.425997	0.11987	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.16897	2.31;2.57	5.04	-2.23	0.06930	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.002	T	0.40627	-0.9553	9	0.17369	T	0.5	.	0.935	0.01343	0.1431:0.2768:0.2793:0.3008	.	442;442	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	K	442	ENSP00000298292:R442K;ENSP00000384862:R442K	ENSP00000298292:R442K	R	-	2	0	DNAAF2	49170293	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.977000	0.03782	-0.390000	0.07774	-1.803000	0.00618	AGG		0.716	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			T	50100543	C	T	50100543	3	4	447	1	0	0	0	0	1	0	0	0	1738	681	24	2	1200	2	C14orf104	14	50100543	Missense_Mutation	SNP	C	TCGA-BP-5200-01A-01D-1429-08	27966803	50100543	57248997	29	24493											
AMN	81693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	103395248	103395248	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr14:103395248T>C	ENST00000299155.5	+	5	482	c.449T>C	c.(448-450)tTc>tCc	p.F150S		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	150					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.F150S(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTGCCTCCTTCCGCGTGGGG	0.711																																																1	Substitution - Missense(1)	kidney(1)											29	28	29					14																	103395248		2201	4297	6498	SO:0001583	missense	81693			AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.449T>C	14.37:g.103395248T>C	ENSP00000299155:p.Phe150Ser		Q6UX83	Missense_Mutation	SNP	ENST00000299155.5	37	CCDS9977.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437063	0.83885	.	.	ENSG00000166126	ENST00000299155;ENST00000541086	D	0.89196	-2.48	4.03	4.03	0.46877	.	0.054132	0.85682	U	0.000000	D	0.92835	0.7721	M	0.73962	2.25	0.54753	D	0.999984	D	0.76494	0.999	D	0.72075	0.976	D	0.92850	0.6296	10	0.87932	D	0	-19.1093	9.4177	0.38532	0.0:0.0:0.0:1.0	.	150	Q9BXJ7	AMNLS_HUMAN	S	150;96	ENSP00000299155:F150S	ENSP00000299155:F150S	F	+	2	0	AMN	102465001	0.966000	0.33281	0.998000	0.56505	0.949000	0.60115	0.816000	0.27267	1.475000	0.48197	0.254000	0.18369	TTC		0.711	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			C	103395248	T	C	103395248	3	2	447	1	0	0	0	0	1	0	0	0	580	1783	62	3	467	3	AMN	14	103395248	Missense_Mutation	SNP	T	TCGA-BP-5200-01A-01D-1429-08	53294705	103395248	3954292	30	24494											
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu	37	14	105414503	105414503	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr14:105414503C>G	ENST00000333244.5	-	7	7404	c.7285G>C	c.(7285-7287)Gac>Cac	p.D2429H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2429			D -> E (in dbSNP:rs11160826).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D2429H(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTTCAGGTCCAGCTTGGGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											118	135	129					14																	105414503		1890	4092	5982	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7285G>C	14.37:g.105414503C>G	ENSP00000353114:p.Asp2429His		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	11.85	1.761440	0.31228	.	.	ENSG00000185567	ENST00000333244	T	0.02236	4.38	4.02	4.02	0.46733	.	.	.	.	.	T	0.10078	0.0247	M	0.74258	2.255	0.22656	N	0.998882	D	0.76494	0.999	D	0.71870	0.975	T	0.13388	-1.0511	9	0.30078	T	0.28	.	10.964	0.47401	0.0:0.9037:0.0:0.0962	.	2429	Q8IVF2	AHNK2_HUMAN	H	2429	ENSP00000353114:D2429H	ENSP00000353114:D2429H	D	-	1	0	AHNAK2	104485548	0.019000	0.18553	0.116000	0.21606	0.248000	0.25809	0.421000	0.21280	1.803000	0.52742	0.485000	0.47835	GAC		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105414503	C	G	105414503	3	3	447	1	0	0	0	0	1	0	0	0	415	855	30	4	10106	4	AHNAK2	14	105414503	Missense_Mutation	SNP	C	TCGA-BP-5200-01A-01D-1429-08	2019255	105414503	1935037	31	24495											
SEMA6D	80031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48054430	48054430	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr15:48054430T>G	ENST00000316364.5	+	8	1011	c.572T>G	c.(571-573)tTc>tGc	p.F191C	SEMA6D_ENST00000536845.2_Missense_Mutation_p.F191C|SEMA6D_ENST00000355997.3_Missense_Mutation_p.F191C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.F191C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.F191C|SEMA6D_ENST00000537942.1_Missense_Mutation_p.F191C|SEMA6D_ENST00000558816.1_Missense_Mutation_p.F191C|SEMA6D_ENST00000358066.4_Missense_Mutation_p.F191C|SEMA6D_ENST00000389432.2_Missense_Mutation_p.F191C|SEMA6D_ENST00000389425.3_Missense_Mutation_p.F191C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.F191C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.F191C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	191	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.F191C(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTGGCTGACTTCTTGGCCAGC	0.423																																																2	Substitution - Missense(2)	kidney(2)											116	106	109					15																	48054430		2198	4297	6495	SO:0001583	missense	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.572T>G	15.37:g.48054430T>G	ENSP00000324857:p.Phe191Cys		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.910193	0.92107	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	H	0.96518	3.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.997;0.997;1.0;0.997	T	0.72033	-0.4412	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	191;191;191;191;191	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	C	191	ENSP00000442040:F191C;ENSP00000446152:F191C;ENSP00000324857:F191C;ENSP00000374084:F191C;ENSP00000374083:F191C;ENSP00000346786:F191C;ENSP00000350770:F191C;ENSP00000374079:F191C;ENSP00000348276:F191C;ENSP00000374076:F191C	ENSP00000324857:F191C	F	+	2	0	SEMA6D	45841722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	TTC		0.423	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		G	48054430	T	G	48054430	3	3	447	1	0	0	0	0	1	0	0	0	14048	1783	62	5	598	5	SEMA6D	15	48054430	Missense_Mutation	SNP	T	TCGA-BP-5200-01A-01D-1429-08		48054430	54476962	32	24496											
CDK10	8558	hgsc.bcm.edu	37	16	89753117	89753117	+	5'UTR	SNP	G	G	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr16:89753117G>C	ENST00000353379.7	+	0	42				CDK10_ENST00000331006.8_Intron|CDK10_ENST00000505473.1_5'UTR|RP11-368I7.4_ENST00000567544.1_5'Flank	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10						negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CCAGCGCTCGGCATGGCGGAG	0.677																																																0													19	26	24					16																	89753117		1908	4111	6019	SO:0001623	5_prime_UTR_variant	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.-2G>C	16.37:g.89753117G>C			A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	RNA	SNP	ENST00000353379.7	37	CCDS10984.2																																																																																				0.677	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			C	89753117	G	C	89753117	1	2	447	0	1	0	0	0	0	0	0	0	3127	1218	42	4		4	CDK10	16	89753117	5'UTR	SNP	G	TCGA-BP-5200-01A-01D-1429-08		89753117	601636	33	24497											
CAMTA2	23125	broad.mit.edu;hgsc.bcm.edu	37	17	4876239	4876239	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:4876239G>T	ENST00000348066.3	-	15	2451	c.2328C>A	c.(2326-2328)ttC>ttA	p.F776L	CAMTA2_ENST00000381311.5_Missense_Mutation_p.F778L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.F781L|CAMTA2_ENST00000414043.3_Missense_Mutation_p.F799L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F776L|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Missense_Mutation_p.F775L	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	776					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.F776L(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGTTCCAACGGAAAAGGAGCA	0.647																																																1	Substitution - Missense(1)	kidney(1)											71	63	66					17																	4876239		2203	4300	6503	SO:0001583	missense	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2328C>A	17.37:g.4876239G>T	ENSP00000321813:p.Phe776Leu		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534531	0.64972	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.12	0.918	0.19386	Ankyrin repeat-containing domain (3);	0.064450	0.64402	D	0.000006	T	0.38904	0.1058	N	0.00296	-1.695	0.21579	N	0.999631	B;B;D;D;P	0.58268	0.047;0.337;0.982;0.969;0.949	B;B;D;D;D	0.68943	0.034;0.137;0.961;0.914;0.943	T	0.41052	-0.9530	10	0.46703	T	0.11	-19.1073	7.3428	0.26646	0.4519:0.0:0.5481:0.0	.	752;799;778;776;775	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	L	799;778;775;776;776	ENSP00000412886:F799L;ENSP00000370712:F778L;ENSP00000354828:F775L;ENSP00000350910:F776L;ENSP00000321813:F776L	ENSP00000321813:F776L	F	-	3	2	CAMTA2	4816963	0.999000	0.42202	0.392000	0.26245	0.998000	0.95712	2.784000	0.47774	0.347000	0.23924	0.655000	0.94253	TTC		0.647	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		T	4876239	G	T	4876239	3	4	447	1	0	0	0	0	1	0	0	0	2616	1165	41	4	1366	4	CAMTA2	17	4876239	Missense_Mutation	SNP	G	TCGA-BP-5200-01A-01D-1429-08		4876239	76318971	34	24498											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11572453	11572453	+	Missense_Mutation	SNP	C	C	G	rs556779874		TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:11572453C>G	ENST00000262442.4	+	16	2872	c.2804C>G	c.(2803-2805)cCg>cGg	p.P935R	DNAH9_ENST00000454412.2_Missense_Mutation_p.P935R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	935	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P935L(2)|p.P935R(1)|p.P935Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTTTCTATCCGTCTCTGGAG	0.468																																																4	Substitution - Missense(4)	ovary(1)|NS(1)|lung(1)|kidney(1)											148	145	146					17																	11572453		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2804C>G	17.37:g.11572453C>G	ENSP00000262442:p.Pro935Arg		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054022	0.55218	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.37058	1.28;1.22	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.89414	3.03	0.80722	D	1	D	0.65815	0.995	D	0.63381	0.914	T	0.72246	-0.4349	10	0.59425	D	0.04	.	19.1973	0.93695	0.0:1.0:0.0:0.0	.	935	Q9NYC9	DYH9_HUMAN	R	935	ENSP00000262442:P935R;ENSP00000414874:P935R	ENSP00000262442:P935R	P	+	2	0	DNAH9	11513178	1.000000	0.71417	0.218000	0.23776	0.159000	0.22180	7.475000	0.81041	2.530000	0.85305	0.655000	0.94253	CCG		0.468	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		G	11572453	C	G	11572453	3	3	447	1	0	0	0	0	1	0	0	0	4610	652	23	4	2866	4	DNAH9	17	11572453	Missense_Mutation	SNP	C	TCGA-BP-5200-01A-01D-1429-08	6696214	11572453	69622757	35	24499											
FBXW10	10517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18682177	18682177	+	Missense_Mutation	SNP	C	C	A	rs150642944		TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:18682177C>A	ENST00000395665.4	+	14	2946	c.2725C>A	c.(2725-2727)Ccc>Acc	p.P909T	FBXW10_ENST00000308799.4_Missense_Mutation_p.P918T|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.P908T|TVP23B_ENST00000574226.1_5'Flank|TVP23B_ENST00000476139.1_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.P856T			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	909								p.P908T(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTCCACCATACCCCAGCCCAT	0.502																																																1	Substitution - Missense(1)	kidney(1)						C	THR/PRO	0,4406		0,0,2203	93	95	94		2722	3.6	0.9	17	dbSNP_134	94	1,8599		0,1,4299	no	missense	FBXW10	NM_031456.3	38	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	908/1052	18682177	1,13005	2203	4300	6503	SO:0001583	missense	10517			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2725C>A	17.37:g.18682177C>A	ENSP00000379025:p.Pro909Thr		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717898	0.30413	0.0	1.16E-4	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	3.62	3.62	0.41486	.	0.000000	0.35646	U	0.003079	D	0.85535	0.5719	M	0.68593	2.085	0.41425	D	0.98782	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.994;0.999	D	0.87413	0.2377	10	0.87932	D	0	.	12.7698	0.57415	0.0:1.0:0.0:0.0	.	856;918;909;908	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	T	908;918;856;909	ENSP00000379026:P908T;ENSP00000310382:P918T;ENSP00000306937:P856T;ENSP00000379025:P909T	ENSP00000306937:P856T	P	+	1	0	FBXW10	18622902	1.000000	0.71417	0.926000	0.36857	0.088000	0.18126	5.162000	0.64942	1.813000	0.52934	0.411000	0.27672	CCC		0.502	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		A	18682177	C	A	18682177	3	1	447	1	0	0	0	0	1	0	0	0	5765	507	18	4	2776	4	FBXW10	17	18682177	Missense_Mutation	SNP	C	TCGA-BP-5200-01A-01D-1429-08	7109724	18682177	62513033	36	24500											
PPP1R9B	84687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48212737	48212737	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:48212737C>G	ENST00000316878.6	-	12	2409	c.2407G>C	c.(2407-2409)Gaa>Caa	p.E803Q	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	803	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)	p.E802Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AAGTTTCCTTCCAGTTCTGAG	0.527																																																1	Substitution - Missense(1)	kidney(1)											119	125	123					17																	48212737		1920	4132	6052	SO:0001583	missense	84687			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9298	protein-coding gene	gene with protein product	"spinophilin", "Neurabin-2"	603325	"protein phosphatase 1, regulatory subunit 9B, spinophilin", "protein phosphatase 1, regulatory (inhibitor) subunit 9B"	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.2407G>C	17.37:g.48212737C>G	ENSP00000475417:p.Glu803Gln		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37																																																																																					0.527	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		G	48212737	C	G	48212737	3	3	447	1	0	0	0	0	1	0	0	0	12384	864	30	4	44	4	PPP1R9B	17	48212737	Missense_Mutation	SNP	C	TCGA-BP-5200-01A-01D-1429-08	29530560	48212737	32982473	37	24501											
VEZF1	7716	broad.mit.edu;hgsc.bcm.edu	37	17	56060482	56060482	+	Silent	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:56060482C>T	ENST00000581208.1	-	2	346	c.306G>A	c.(304-306)gtG>gtA	p.V102V	VEZF1_ENST00000584396.1_Silent_p.V93V	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	102					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V102V(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TTGGCCGGGACACCAACTTGA	0.537																																																1	Substitution - coding silent(1)	kidney(1)											99	99	99					17																	56060482		2203	4300	6503	SO:0001819	synonymous_variant	7716			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.306G>A	17.37:g.56060482C>T				Silent	SNP	ENST00000581208.1	37	CCDS32687.1																																																																																				0.537	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			T	56060482	C	T	56060482	2	4	447	1	0	0	0	0	0	0	0	1	17160	465	17	2		2	VEZF1	17	56060482	Silent	SNP	C	TCGA-BP-5200-01A-01D-1429-08	7847745	56060482	25134728	38	24502											
ABCA10	10349	broad.mit.edu	37	17	67189255	67189255	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:67189255C>G	ENST00000269081.4	-	16	2685	c.1776G>C	c.(1774-1776)ttG>ttC	p.L592F	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	592	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L592F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AATCACCAGCCAAGATGTCAG	0.393																																																1	Substitution - Missense(1)	kidney(1)											102	96	98					17																	67189255		2203	4300	6503	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1776G>C	17.37:g.67189255C>G	ENSP00000269081:p.Leu592Phe		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739611	0.49045	.	.	ENSG00000154263	ENST00000269081	T	0.80566	-1.39	3.45	-6.85	0.01681	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	D	0.84727	0.5536	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.84558	0.0648	9	0.87932	D	0	.	7.4806	0.27402	0.5722:0.2604:0.0:0.1673	.	592;592	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	F	592	ENSP00000269081:L592F	ENSP00000269081:L592F	L	-	3	2	ABCA10	64700850	0.000000	0.05858	0.067000	0.19924	0.986000	0.74619	-6.017000	0.00085	-0.994000	0.03463	0.563000	0.77884	TTG		0.393	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		G	67189255	C	G	67189255	3	3	447	1	0	0	0	0	1	0	0	0	29	593	21	4	2955	4	ABCA10	17	67189255	Missense_Mutation	SNP	C	TCGA-BP-5200-01A-01D-1429-08	11128773	67189255	14005955	39	24503											
TMIGD2	126259	hgsc.bcm.edu	37	19	4294602	4294603	+	Frame_Shift_Ins	INS	-	-	G	rs370727587	byFrequency	TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr19:4294602_4294603insG	ENST00000301272.2	-	4	568_569	c.523_524insC	c.(523-525)cgcfs	p.R175fs	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Frame_Shift_Ins_p.R55fs|TMIGD2_ENST00000595645.1_Frame_Shift_Ins_p.R175fs	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	175					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGCGGCGGCCCCAGAAC	0.624																																																0																																										SO:0001589	frameshift_variant	126259			BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.524dupC	19.37:g.4294604_4294604dupG	ENSP00000301272:p.Arg175fs		Q6UW59	Frame_Shift_Ins	INS	ENST00000301272.2	37	CCDS12126.1																																																																																				0.624	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		G	4294603	-	G	4294602	7	5	447	1	0	1	1	0	0	0	0	0	16236	768	27	0	332	0	TMIGD2	19	4294602	Frame_Shift_Ins	INS	-	TCGA-BP-5200-01A-01D-1429-08		4294602	54834381	40	24504											
FCGBP	8857	broad.mit.edu	37	19	40398046	40398046	+	Silent	SNP	A	A	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr19:40398046A>G	ENST00000221347.6	-	14	6928	c.6921T>C	c.(6919-6921)tgT>tgC	p.C2307C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2307						extracellular vesicular exosome (GO:0070062)		p.C2307C(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCACTGCAGGACAGAGGCCTC	0.692																																																1	Substitution - coding silent(1)	kidney(1)											25	27	26					19																	40398046		2117	3799	5916	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6921T>C	19.37:g.40398046A>G			O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.692	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		G	40398046	A	G	40398046	2	3	447	1	0	0	0	0	0	0	0	1	5780	273	10	3		3	FCGBP	19	40398046	Silent	SNP	A	TCGA-BP-5200-01A-01D-1429-08	36103444	40398046	18730937	41	24505											
LYPD4	147719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42341277	42341277	+	Silent	SNP	G	G	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr19:42341277G>A	ENST00000330743.3	-	5	1892	c.681C>T	c.(679-681)tcC>tcT	p.S227S	LYPD4_ENST00000343055.4_Silent_p.S192S|LYPD4_ENST00000601246.1_Silent_p.S192S|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	227						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S227S(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CTTGCCTGGAGGATGCTGCAC	0.488																																																1	Substitution - coding silent(1)	kidney(1)											145	133	137					19																	42341277		2203	4300	6503	SO:0001819	synonymous_variant	147719			AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.681C>T	19.37:g.42341277G>A			Q8IYW0	Silent	SNP	ENST00000330743.3	37	CCDS12587.1																																																																																				0.488	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		A	42341277	G	A	42341277	2	1	447	1	0	0	0	0	0	0	0	1	9114	987	35	2		2	LYPD4	19	42341277	Silent	SNP	G	TCGA-BP-5200-01A-01D-1429-08	1943231	42341277	16787706	42	24506											
GAGE10	643832	hgsc.bcm.edu	37	X	49173751	49173751	+	Silent	SNP	G	G	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chrX:49173751G>A	ENST00000407599.3	+	4	405	c.312G>A	c.(310-312)gtG>gtA	p.V104V		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	104										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CAGAGGAGGTGAAAAGGCCTG	0.473																																																0													157	159	158					X																	49173751		2203	4300	6503	SO:0001819	synonymous_variant	643832					Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.312G>A	X.37:g.49173751G>A				Silent	SNP	ENST00000407599.3	37	CCDS43938.1																																																																																				0.473	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1	NM_001098413		A	49173751	G	A	49173751	2	1	447	1	0	0	0	0	0	0	0	1	6189	1277	45	2		2	GAGE10	23	49173751	Silent	SNP	G	TCGA-BP-5200-01A-01D-1429-08		49173751	106096809	43	24507											
NXF5	55998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101092585	101092585	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chrX:101092585T>A	ENST00000361708.2	-	15	1320	c.961A>T	c.(961-963)Aac>Tac	p.N321Y	NXF5_ENST00000473265.2_Missense_Mutation_p.N321Y|NXF5_ENST00000537026.1_Missense_Mutation_p.N321Y			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	321	NTF2; truncated.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.N321Y(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GAGTCCACGTTTCGTGGACAT	0.537																																																1	Substitution - Missense(1)	kidney(1)											181	144	156					X																	101092585		2203	4300	6503	SO:0001583	missense	55998			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.961A>T	X.37:g.101092585T>A	ENSP00000355286:p.Asn321Tyr		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37		.	.	.	.	.	.	.	.	.	.	.	7.839	0.721605	0.15372	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.42900	0.98;0.98;0.96	2.04	0.863	0.19062	.	0.147833	0.43579	U	0.000543	T	0.19525	0.0469	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.24701	0.055	T	0.14868	-1.0457	10	0.87932	D	0	.	4.0019	0.09584	0.0:0.3928:0.0:0.6072	.	321	A2RRM0	.	Y	321	ENSP00000442401:N321Y;ENSP00000426978:N321Y;ENSP00000355286:N321Y	ENSP00000263032:N321Y	N	-	1	0	NXF5	100979241	0.671000	0.27521	0.001000	0.08648	0.001000	0.01503	1.435000	0.34969	0.174000	0.19809	0.138000	0.15974	AAC		0.537	NXF5-201	KNOWN	basic	protein_coding	protein_coding				A	101092585	T	A	101092585	3	1	447	1	0	0	0	0	1	0	0	0	10788	1841	64	5	144	5	NXF5	23	101092585	Missense_Mutation	SNP	T	TCGA-BP-5200-01A-01D-1429-08	51918834	101092585	54177975	44	24508											
VHL	7428	hgsc.bcm.edu	37	3	10183710	10183710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5200-01A-01D-2101-10	TCGA-BP-5200-11A-01W-1477-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	55851e7b-55d8-4016-a3d5-0c6722b3ed48	4061e057-8271-443a-b827-8fc29da8fbf3	g.chr3:10183710delG	ENST00000256474.2	+	1	1019	c.179delG	c.(178-180)cggfs	p.R60fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Del_p.R60fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	60					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E52_S65del(2)|p.R58fs*6(2)|p.R60fs*5(2)|p.P59_P61del(1)|p.V62fs*5(1)|p.G57fs*69(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.G57fs*4(1)|p.R60fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGGCGGCCGCGGCCCGTGCTG	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	13	Deletion - Frameshift(9)|Deletion - In frame(3)|Complex - deletion inframe(1)	kidney(12)|soft_tissue(1)											6	9	8					3																	10183710		2121	4169	6290	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.179delG	3.37:g.10183710delG	ENSP00000256474:p.Arg60fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183710	G	-	10183710	7	5	448	1	0	1	0	1	0	0	0	0	17167	1116	39	0	181	0	VHL	3	10183710	Frame_Shift_Del	DEL	G	TCGA-BP-5200-01A-01D-2101-10		10183710	187838720	1	24509											
MTF1	4520	broad.mit.edu;ucsc.edu	37	1	38323150	38323150	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr1:38323150C>A	ENST00000373036.4	-	2	321	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	61					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E61*(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCGTCATCTTCATCCTCCAAA	0.483																																																1	Substitution - Nonsense(1)	kidney(1)											147	124	132					1																	38323150		2203	4300	6503	SO:0001587	stop_gained	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.181G>T	1.37:g.38323150C>A	ENSP00000362127:p.Glu61*		B2RAK6|Q96CB1	Nonsense_Mutation	SNP	ENST00000373036.4	37	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034065	0.93575	.	.	ENSG00000188786	ENST00000373036	.	.	.	5.62	4.71	0.59529	.	0.228776	0.44097	D	0.000497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	14.7961	0.69878	0.0:0.9306:0.0:0.0694	.	.	.	.	X	61	.	ENSP00000362127:E61X	E	-	1	0	MTF1	38095737	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.194000	0.77789	1.366000	0.46076	0.650000	0.86243	GAA		0.483	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		A	38323150	C	A	38323150	4	1	449	1	0	0	0	0	0	1	0	0	9924	835	29	4	2120	4	MTF1	1	38323150	Nonsense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08		38323150	210927471	1	24510											
TXNIP	10628	broad.mit.edu;ucsc.edu	37	1	145438912	145438912	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr1:145438912A>G	ENST00000369317.4	+	1	444	c.110A>G	c.(109-111)gAa>gGa	p.E37G	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	37					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.E37G(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGTGTGTGAAGTTACTCGT	0.522																																																1	Substitution - Missense(1)	kidney(1)											163	143	150					1																	145438912		2203	4300	6503	SO:0001583	missense	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.110A>G	1.37:g.145438912A>G	ENSP00000358323:p.Glu37Gly		B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	CCDS913.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.950245	0.53186	.	.	ENSG00000117289	ENST00000369317	T	0.15017	2.46	5.74	5.74	0.90152	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.049982	0.85682	D	0.000000	T	0.06645	0.0170	L	0.37507	1.11	0.80722	D	1	B	0.26708	0.157	B	0.24974	0.057	T	0.19647	-1.0299	10	0.20046	T	0.44	2.7159	13.9793	0.64295	1.0:0.0:0.0:0.0	.	37	Q9H3M7	TXNIP_HUMAN	G	37	ENSP00000358323:E37G	ENSP00000358323:E37G	E	+	2	0	TXNIP	144150269	1.000000	0.71417	0.816000	0.32577	0.964000	0.63967	8.495000	0.90481	2.197000	0.70478	0.533000	0.62120	GAA		0.522	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		G	145438912	A	G	145438912	3	3	449	1	0	0	0	0	1	0	0	0	16808	246	9	3	112	3	TXNIP	1	145438912	Missense_Mutation	SNP	A	TCGA-BP-5201-01A-01D-1429-08	107115762	145438912	103811709	2	24511											
GON4L	54856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155732098	155732098	+	Silent	SNP	C	C	A	rs369040451		TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr1:155732098C>A	ENST00000368331.1	-	23	4842	c.4794G>T	c.(4792-4794)cgG>cgT	p.R1598R	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Silent_p.R1598R|GON4L_ENST00000271883.5_Silent_p.R1598R	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1598					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1598R(2)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGCCCGAGCCCGACTTCCCC	0.547																																																2	Substitution - coding silent(2)	kidney(2)											68	68	68					1																	155732098		2004	4142	6146	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4794G>T	1.37:g.155732098C>A			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37																																																																																					0.547	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		A	155732098	C	A	155732098	2	1	449	1	0	0	0	0	0	0	0	1	6574	610	22	4		4	GON4L	1	155732098	Silent	SNP	C	TCGA-BP-5201-01A-01D-1429-08	10293186	155732098	93518523	3	24512											
ALMS1	7840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73680768	73680768	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr2:73680768A>C	ENST00000264448.6	+	8	7222	c.7111A>C	c.(7111-7113)Atg>Ctg	p.M2371L	ALMS1_ENST00000409009.1_Missense_Mutation_p.M2329L|ALMS1_ENST00000377715.1_Missense_Mutation_p.M2371L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2371					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.M2371L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAAGTCAGTATGGCATTAGA	0.393																																																1	Substitution - Missense(1)	kidney(1)											78	71	73					2																	73680768		1875	4118	5993	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7111A>C	2.37:g.73680768A>C	ENSP00000264448:p.Met2371Leu		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	8.246	0.807953	0.16467	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14391	3.39;3.39;2.51	5.92	-4.86	0.03132	.	2.188850	0.01605	N	0.022232	T	0.10594	0.0259	L	0.29908	0.895	0.09310	N	1	B;B;B	0.21225	0.021;0.053;0.053	B;B;B	0.18871	0.015;0.023;0.023	T	0.27905	-1.0060	10	0.36615	T	0.2	.	8.6973	0.34305	0.5986:0.1125:0.289:0.0	.	2371;2329;2371	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	2329;2371;2371	ENSP00000386627:M2329L;ENSP00000264448:M2371L;ENSP00000366944:M2371L	ENSP00000264448:M2371L	M	+	1	0	ALMS1	73534276	0.000000	0.05858	0.000000	0.03702	0.530000	0.34684	-0.342000	0.07801	-1.152000	0.02832	-0.256000	0.11100	ATG		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		C	73680768	A	C	73680768	3	2	449	1	0	0	0	0	1	0	0	0	535	449	16	5	7141	5	ALMS1	2	73680768	Missense_Mutation	SNP	A	TCGA-BP-5201-01A-01D-1429-08		73680768	169518605	4	24513											
BOC	91653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	112998188	112998188	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr3:112998188A>C	ENST00000495514.1	+	12	2610	c.1906A>C	c.(1906-1908)Atc>Ctc	p.I636L	BOC_ENST00000355385.3_Missense_Mutation_p.I636L|BOC_ENST00000273395.4_Missense_Mutation_p.I637L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	636	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.I636L(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGGGTTCCCAATCCAGTCCTT	0.602																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											79	79	79					3																	112998188		2203	4300	6503	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1906A>C	3.37:g.112998188A>C	ENSP00000418663:p.Ile636Leu		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	A	32	5.174404	0.94807	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.60797	0.16;0.16;0.16	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.162323	0.53938	D	0.000051	T	0.74390	0.3710	M	0.64630	1.985	0.58432	D	0.999997	B;B	0.28419	0.176;0.211	P;P	0.53649	0.612;0.731	T	0.75258	-0.3381	10	0.62326	D	0.03	.	15.6792	0.77354	1.0:0.0:0.0:0.0	.	637;636	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	L	636;637;636	ENSP00000418663:I636L;ENSP00000273395:I637L;ENSP00000347546:I636L	ENSP00000273395:I637L	I	+	1	0	BOC	114480878	1.000000	0.71417	0.916000	0.36221	0.877000	0.50540	8.722000	0.91452	2.097000	0.63578	0.460000	0.39030	ATC		0.602	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		C	112998188	A	C	112998188	3	2	449	1	0	0	0	0	1	0	0	0	1481	101	4	5	1944	5	BOC	3	112998188	Missense_Mutation	SNP	A	TCGA-BP-5201-01A-01D-1429-08		112998188	85024242	5	24514											
TCTEX1D2	255758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196022891	196022891	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr3:196022891C>T	ENST00000325318.5	-	4	502	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RP11-447L10.1_ENST00000431391.1_Intron	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	123								p.D123N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ATGAAAACATCATGAGTATAG	0.378																																																1	Substitution - Missense(1)	kidney(1)											119	110	113					3																	196022891		2203	4300	6503	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.367G>A	3.37:g.196022891C>T	ENSP00000324323:p.Asp123Asn		A6NCN5	Missense_Mutation	SNP	ENST00000325318.5	37	CCDS33929.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310807	0.81358	.	.	ENSG00000213123	ENST00000325318	T	0.29142	1.58	4.69	4.69	0.59074	.	0.091999	0.42682	U	0.000677	T	0.49457	0.1558	M	0.87456	2.885	0.42318	D	0.992247	P	0.46859	0.885	P	0.52031	0.688	T	0.50742	-0.8792	10	0.25751	T	0.34	-9.5964	13.3107	0.60378	0.0:1.0:0.0:0.0	.	123	Q8WW35	TC1D2_HUMAN	N	123	ENSP00000324323:D123N	ENSP00000324323:D123N	D	-	1	0	TCTEX1D2	197507288	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.137000	0.64789	2.581000	0.87130	0.655000	0.94253	GAT		0.378	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341166.1	NM_152773		T	196022891	C	T	196022891	3	4	449	1	0	0	0	0	1	0	0	0	15725	826	29	2	69	2	TCTEX1D2	3	196022891	Missense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08	83024703	196022891	1999539	6	24515											
BMPR1B	658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	96035969	96035969	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr4:96035969G>T	ENST00000515059.1	+	5	525	c.242G>T	c.(241-243)tGt>tTt	p.C81F	BMPR1B_ENST00000264568.4_Missense_Mutation_p.C81F|BMPR1B_ENST00000502683.1_Missense_Mutation_p.C81F|BMPR1B_ENST00000440890.2_Missense_Mutation_p.C111F|BMPR1B_ENST00000394931.1_Missense_Mutation_p.C81F	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	81					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.C81F(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GATTTTCAGTGTCGGGTAAGG	0.428																																																2	Substitution - Missense(2)	kidney(2)											229	224	226					4																	96035969		2203	4300	6503	SO:0001583	missense	658			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.242G>T	4.37:g.96035969G>T	ENSP00000426617:p.Cys81Phe		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067317	0.76301	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	D;D;D;D;D;D;D;D	0.99567	-6.18;-6.18;-6.18;-6.18;-6.18;-6.18;-6.18;-6.18	5.6	5.6	0.85130	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97693	1.0180	10	0.62326	D	0.03	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	81	O00238	BMR1B_HUMAN	F	81;81;81;81;111;81;81;81	ENSP00000426617:C81F;ENSP00000421144:C81F;ENSP00000425444:C81F;ENSP00000421671:C81F;ENSP00000401907:C111F;ENSP00000424693:C81F;ENSP00000264568:C81F;ENSP00000378389:C81F	ENSP00000264568:C81F	C	+	2	0	BMPR1B	96254992	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.084000	0.89516	2.820000	0.97059	0.644000	0.83932	TGT		0.428	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		T	96035969	G	T	96035969	3	4	449	1	0	0	0	0	1	0	0	0	1470	1377	48	4	248	4	BMPR1B	4	96035969	Missense_Mutation	SNP	G	TCGA-BP-5201-01A-01D-1429-08		96035969	95118307	7	24516											
LNPEP	4012	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	96315099	96315099	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr5:96315099A>G	ENST00000231368.5	+	2	969	c.277A>G	c.(277-279)Act>Gct	p.T93A	LNPEP_ENST00000395770.3_Missense_Mutation_p.T79A	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	93					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T93A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAACAGTGCAACTGGTTACAG	0.498																																																1	Substitution - Missense(1)	kidney(1)											72	77	76					5																	96315099		2203	4300	6503	SO:0001583	missense	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.277A>G	5.37:g.96315099A>G	ENSP00000231368:p.Thr93Ala		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.106038	0.00356	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.01209	5.17;5.17	6.07	-6.93	0.01638	.	0.930959	0.09278	N	0.824140	T	0.00552	0.0018	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48681	-0.9014	10	0.08599	T	0.76	.	13.609	0.62065	0.6005:0.0:0.3277:0.0718	.	93	Q9UIQ6	LCAP_HUMAN	A	93;79	ENSP00000231368:T93A;ENSP00000379117:T79A	ENSP00000231368:T93A	T	+	1	0	LNPEP	96340855	0.000000	0.05858	0.001000	0.08648	0.384000	0.30261	-1.126000	0.03254	-1.827000	0.01204	-1.463000	0.01021	ACT		0.498	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		G	96315099	A	G	96315099	3	3	449	1	0	0	0	0	1	0	0	0	8866	43	2	3	283	3	LNPEP	5	96315099	Missense_Mutation	SNP	A	TCGA-BP-5201-01A-01D-1429-08		96315099	84600161	8	24517											
C6orf162	57150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	88046871	88046871	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr6:88046871T>C	ENST00000392863.1	+	3	211	c.122T>C	c.(121-123)cTc>cCc	p.L41P	SMIM8_ENST00000608525.1_Missense_Mutation_p.L41P|SMIM8_ENST00000608868.1_Missense_Mutation_p.L41P|RP1-102H19.8_ENST00000448282.2_Missense_Mutation_p.L41P|SMIM8_ENST00000229570.5_Missense_Mutation_p.L41P|SMIM8_ENST00000608353.1_Missense_Mutation_p.L41P	NM_001042493.1	NP_001035958.1	Q96KF7	SMIM8_HUMAN	small integral membrane protein 8	41						integral component of membrane (GO:0016021)		p.L41P(1)									AATCCAGAGCTCTTCATTAAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											101	103	103					6																	88046871		2203	4300	6503	SO:0001583	missense	0			AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850			21401	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 162"	C6orf162			Standard	NM_001287445		Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.122T>C	6.37:g.88046871T>C	ENSP00000376603:p.Leu41Pro		B2R4V6|E1P505|Q5TEZ3|Q6NSD2|Q8IZ10	Missense_Mutation	SNP	ENST00000392863.1	37	CCDS34496.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557036	0.86231	.	.	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80837	-0.1204	8	0.87932	D	0	-8.2011	16.3453	0.83126	0.0:0.0:0.0:1.0	.	41	Q96KF7	CF162_HUMAN	P	41	.	ENSP00000229570:L41P	L	+	2	0	C6orf162	88103590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.914000	0.75764	2.261000	0.74972	0.533000	0.62120	CTC		0.393	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472479.2	NM_020425		C	88046871	T	C	88046871	3	2	449	1	0	0	0	0	1	0	0	0	2342	1551	54	3	124	3	C6orf162	6	88046871	Missense_Mutation	SNP	T	TCGA-BP-5201-01A-01D-1429-08		88046871	83068196	9	24518											
TNRC18	84629	broad.mit.edu	37	7	5364768	5364768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr7:5364768delT	ENST00000430969.1	-	20	6607	c.6259delA	c.(6259-6261)aggfs	p.R2087fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.R2087fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2087							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCTTTGCTCCTTTTGGCAGCG	0.672																																																0													21	21	21					7																	5364768		1510	3452	4962	SO:0001589	frameshift_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6259delA	7.37:g.5364768delT	ENSP00000395538:p.Arg2087fs		A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	CCDS47534.1																																																																																				0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				-	5364768	T	-	5364768	7	5	449	1	0	1	0	1	0	0	0	0	16344	1608	56	0	2691	0	TNRC18	7	5364768	Frame_Shift_Del	DEL	T	TCGA-BP-5201-01A-01D-1429-08		5364768	153773895	10	24519											
RSPH10B	222967	broad.mit.edu	37	7	6006558	6006558	+	Missense_Mutation	SNP	C	C	T	rs150311566		TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr7:6006558C>T	ENST00000405415.1	-	2	576	c.190G>A	c.(190-192)Gtt>Att	p.V64I	RSPH10B_ENST00000404406.1_Missense_Mutation_p.V64I|RSPH10B_ENST00000441023.2_Missense_Mutation_p.V64I|RSPH10B_ENST00000337579.3_Missense_Mutation_p.V64I			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	64								p.V64I(1)		breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TTCTGCTGAACGTTTTGGCGG	0.488													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19194	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						T	ILE/VAL	0,4176		0,0,2088	184	128	148		190	-8.3	0	7	dbSNP_134	148	1,7577		0,1,3788	no	missense	RSPH10B	NM_173565.3	29	0,1,5876	TT,TC,CC		0.0132,0.0,0.0085	benign	64/871	6006558	1,11753	2088	3789	5877	SO:0001583	missense	728194				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.190G>A	7.37:g.6006558C>T	ENSP00000385443:p.Val64Ile		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000405415.1	37	CCDS34598.1	.	.	.	.	.	.	.	.	.	.	C	7.049	0.564071	0.13498	0.0	1.32E-4	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.13	-8.26	0.01021	.	29.591000	0.00166	N	0.000000	T	0.23846	0.0577	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.22556	-1.0213	10	0.19590	T	0.45	.	8.3679	0.32397	0.0:0.399:0.1893:0.4116	.	64	P0C881	R10B1_HUMAN	I	64	ENSP00000385443:V64I;ENSP00000384097:V64I;ENSP00000338556:V64I;ENSP00000400988:V64I	ENSP00000338556:V64I	V	-	1	0	RSPH10B	5973084	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.451000	0.06795	-3.516000	0.00148	-3.442000	0.00036	GTT		0.488	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		T	6006558	C	T	6006558	3	4	449	1	0	0	0	0	1	0	0	0	13709	536	19	1	2498	1	RSPH10B	7	6006558	Missense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08	641790	6006558	153132105	11	24520											
SAMD9L	219285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92763473	92763473	+	Silent	SNP	T	T	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr7:92763473T>C	ENST00000318238.4	-	5	3028	c.1812A>G	c.(1810-1812)ctA>ctG	p.L604L	SAMD9L_ENST00000411955.1_Silent_p.L604L|SAMD9L_ENST00000437805.1_Silent_p.L604L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	604					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.L604L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTGGTTTGTTAGTTCATCTT	0.358																																																1	Substitution - coding silent(1)	kidney(1)											98	97	97					7																	92763473		2203	4299	6502	SO:0001819	synonymous_variant	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1812A>G	7.37:g.92763473T>C			A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	CCDS34681.1																																																																																				0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		C	92763473	T	C	92763473	2	2	449	1	0	0	0	0	0	0	0	1	13833	1741	61	3		3	SAMD9L	7	92763473	Silent	SNP	T	TCGA-BP-5201-01A-01D-1429-08	86756915	92763473	66375190	12	24521											
PRSS55	203074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	10396087	10396087	+	Silent	SNP	C	C	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr8:10396087C>G	ENST00000328655.3	+	5	883	c.843C>G	c.(841-843)acC>acG	p.T281T	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	281	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.T281T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGAAGAACACCCCAGGGATAT	0.557																																																2	Substitution - coding silent(2)	kidney(2)											105	111	109					8																	10396087		2203	4300	6503	SO:0001819	synonymous_variant	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.843C>G	8.37:g.10396087C>G			E5RJX5	Silent	SNP	ENST00000328655.3	37	CCDS5976.1																																																																																				0.557	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		G	10396087	C	G	10396087	2	3	449	1	0	0	0	0	0	0	0	1	12639	610	22	4		4	PRSS55	8	10396087	Silent	SNP	C	TCGA-BP-5201-01A-01D-1429-08		10396087	135967935	13	24522											
SNTG1	54212	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	51415372	51415372	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr8:51415372C>T	ENST00000522124.1	+	9	1059	c.398C>T	c.(397-399)aCt>aTt	p.T133I	SNTG1_ENST00000276467.5_Missense_Mutation_p.T133I|SNTG1_ENST00000517473.1_Missense_Mutation_p.T133I|SNTG1_ENST00000518864.1_Missense_Mutation_p.T133I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	133	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.T133I(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GAAGAAGTGACTCTAACAGTG	0.333																																																2	Substitution - Missense(2)	kidney(2)											80	78	78					8																	51415372		2203	4299	6502	SO:0001583	missense	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.398C>T	8.37:g.51415372C>T	ENSP00000429842:p.Thr133Ile		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309189	0.60414	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.86	3.04	0.35103	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.55213	1.73	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.81914	0.982;0.995	T	0.38329	-0.9666	10	0.48119	T	0.1	.	12.9287	0.58275	0.2953:0.7047:0.0:0.0	.	133;133	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	133	ENSP00000429276:T133I;ENSP00000429842:T133I;ENSP00000431123:T133I;ENSP00000276467:T133I	ENSP00000276467:T133I	T	+	2	0	SNTG1	51577925	1.000000	0.71417	0.513000	0.27749	0.862000	0.49288	3.559000	0.53756	0.548000	0.28955	-0.152000	0.13540	ACT		0.333	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			T	51415372	C	T	51415372	3	4	449	1	0	0	0	0	1	0	0	0	14880	565	20	2	424	2	SNTG1	8	51415372	Missense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08	41019285	51415372	94948650	14	24523											
RGS22	26166	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	101014479	101014479	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr8:101014479T>G	ENST00000360863.6	-	18	2935	c.2741A>C	c.(2740-2742)aAa>aCa	p.K914T	RGS22_ENST00000519421.1_5'Flank|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523437.1_Missense_Mutation_p.K902T|RGS22_ENST00000523287.1_Missense_Mutation_p.K733T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	914	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.K914T(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAAGAAATATTTTTTATTAAG	0.343																																																2	Substitution - Missense(2)	kidney(2)											80	78	78					8																	101014479		1794	4061	5855	SO:0001583	missense	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2741A>C	8.37:g.101014479T>G	ENSP00000354109:p.Lys914Thr		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665806	0.47677	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.22134	4.51;4.51;4.51;1.97	5.7	3.29	0.37713	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.121961	0.52532	N	0.000079	T	0.27384	0.0672	M	0.73598	2.24	0.29671	N	0.842437	P;P;P	0.52316	0.898;0.898;0.952	P;P;P	0.45310	0.472;0.472;0.476	T	0.26360	-1.0105	10	0.87932	D	0	.	8.4383	0.32799	0.0:0.0679:0.1323:0.7998	.	902;914;733	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	T	914;901;733;902;229	ENSP00000354109:K914T;ENSP00000429382:K733T;ENSP00000428212:K902T;ENSP00000427754:K229T	ENSP00000354109:K914T	K	-	2	0	RGS22	101083655	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.750000	0.55157	0.418000	0.25898	0.528000	0.53228	AAA		0.343	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		G	101014479	T	G	101014479	3	3	449	1	0	0	0	0	1	0	0	0	13311	1841	64	5	1093	5	RGS22	8	101014479	Missense_Mutation	SNP	T	TCGA-BP-5201-01A-01D-1429-08	49599107	101014479	45349543	15	24524											
PHF20L1	51105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	133850030	133850030	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr8:133850030T>C	ENST00000395386.2	+	17	2464	c.2165T>C	c.(2164-2166)aTc>aCc	p.I722T	AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.I697T|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.I109T	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	722							zinc ion binding (GO:0008270)	p.I722T(1)|p.I696T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAGCAGTACATCTGCTATATC	0.527																																																2	Substitution - Missense(2)	kidney(2)											110	113	112					8																	133850030		2116	4231	6347	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2165T>C	8.37:g.133850030T>C	ENSP00000378784:p.Ile722Thr		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	4.114	0.019262	0.08006	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T;T	0.44083	0.93;0.93;0.93	5.78	1.92	0.25849	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.468032	0.17828	N	0.160624	T	0.21718	0.0523	N	0.17278	0.47	0.32345	N	0.55928	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.29701	-1.0003	10	0.12103	T	0.63	-26.4125	7.6457	0.28318	0.0:0.0692:0.2652:0.6656	.	697;722	F8W9L8;A8MW92	.;P20L1_HUMAN	T	722;109;697	ENSP00000378784:I722T;ENSP00000220847:I109T;ENSP00000378788:I697T	ENSP00000220847:I109T	I	+	2	0	PHF20L1	133919212	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	2.376000	0.44292	0.088000	0.17205	0.519000	0.50382	ATC		0.527	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		C	133850030	T	C	133850030	3	2	449	1	0	0	0	0	1	0	0	0	11834	1435	50	3	2323	3	PHF20L1	8	133850030	Missense_Mutation	SNP	T	TCGA-BP-5201-01A-01D-1429-08	32835551	133850030	12513992	16	24525											
NOL6	65083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	33467191	33467191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr9:33467191C>A	ENST00000379471.2	-	14	1882	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Nonsense_Mutation_p.E547*			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	599					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E599*(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACCACAGCTTCCCGAATGGCT	0.597											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	kidney(1)											67	73	71					9																	33467191		2203	4300	6503	SO:0001587	stop_gained	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1795G>T	9.37:g.33467191C>A	ENSP00000368784:p.Glu599*	840	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Nonsense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	C	41	8.627248	0.98890	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	.	.	.	X	599;599;599;155;599;547	.	ENSP00000297990:E599X	E	-	1	0	NOL6	33457191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.428000	0.80296	2.755000	0.94549	0.655000	0.94253	GAA		0.597	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		A	33467191	C	A	33467191	4	1	449	1	0	0	0	0	0	1	0	0	10527	864	30	4	1697	4	NOL6	9	33467191	Nonsense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08		33467191	107746240	17	24526											
TUBB2C	10383	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140137408	140137408	+	Silent	SNP	C	C	A	rs151064868		TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr9:140137408C>A	ENST00000340384.4	+	4	886	c.738C>A	c.(736-738)ctC>ctA	p.L246L		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	246					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)	p.L246L(1)								Albendazole(DB00518)|Mebendazole(DB00643)	CAGGCCAGCTCAATGCTGACC	0.627																																																1	Substitution - coding silent(1)	kidney(1)						C		0,4398		0,0,2199	32	33	33		738	2.2	1	9	dbSNP_134	33	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	TUBB2C	NM_006088.5		0,1,6493	AA,AC,CC		0.0116,0.0,0.0077		246/446	140137408	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	0			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"Tubulins"	20771	protein-coding gene	gene with protein product	"class IVb beta-tubulin"	602660	"tubulin, beta 2C"	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.738C>A	9.37:g.140137408C>A			A2BFA2|P05217	Silent	SNP	ENST00000340384.4	37	CCDS7039.1																																																																																				0.627	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		A	140137408	C	A	140137408	2	1	449	1	0	0	0	0	0	0	0	1	16761	813	29	4		4	TUBB2C	9	140137408	Silent	SNP	C	TCGA-BP-5201-01A-01D-1429-08	106670217	140137408	1076023	18	24527											
IDE	3416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	94239093	94239093	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr10:94239093A>G	ENST00000265986.6	-	15	1881	c.1825T>C	c.(1825-1827)Tat>Cat	p.Y609H	IDE_ENST00000496903.1_Intron|IDE_ENST00000371581.5_Missense_Mutation_p.Y54H	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	609					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.Y609H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TCTGCTGCATATGCATACTCG	0.448																																																1	Substitution - Missense(1)	kidney(1)											187	160	169					10																	94239093		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1825T>C	10.37:g.94239093A>G	ENSP00000265986:p.Tyr609His		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059659	0.76074	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.56444	0.46;0.46	5.64	5.64	0.86602	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.139526	0.49916	D	0.000136	T	0.80160	0.4572	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86026	0.1510	10	0.87932	D	0	-12.9568	15.5248	0.75894	1.0:0.0:0.0:0.0	.	609	P14735	IDE_HUMAN	H	609;54	ENSP00000265986:Y609H;ENSP00000360637:Y54H	ENSP00000265986:Y609H	Y	-	1	0	IDE	94229073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.152000	0.67230	0.533000	0.62120	TAT		0.448	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		G	94239093	A	G	94239093	3	3	449	1	0	0	0	0	1	0	0	0	7495	449	16	3	1278	3	IDE	10	94239093	Missense_Mutation	SNP	A	TCGA-BP-5201-01A-01D-1429-08		94239093	41295654	19	24528											
ARCN1	372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118454666	118454666	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr11:118454666C>T	ENST00000264028.4	+	4	685	c.590C>T	c.(589-591)gCt>gTt	p.A197V	ARCN1_ENST00000392859.3_Missense_Mutation_p.A109V|ARCN1_ENST00000359415.4_Missense_Mutation_p.A238V|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	197					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A197V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCAGCACAGCTGCCATGATC	0.488																																																1	Substitution - Missense(1)	kidney(1)											97	89	92					11																	118454666		2200	4295	6495	SO:0001583	missense	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.590C>T	11.37:g.118454666C>T	ENSP00000264028:p.Ala197Val		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218110	0.58560	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.50277	0.75;0.75;0.75	5.89	5.89	0.94794	.	0.319928	0.37304	N	0.002154	T	0.31638	0.0803	N	0.14661	0.345	0.58432	D	0.99999	B;B;B	0.18610	0.02;0.007;0.029	B;B;B	0.15052	0.012;0.005;0.01	T	0.08046	-1.0741	10	0.36615	T	0.2	-7.5208	13.115	0.59295	0.0:0.9264:0.0:0.0736	.	109;238;197	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	V	109;238;197	ENSP00000376599:A109V;ENSP00000352385:A238V;ENSP00000264028:A197V	ENSP00000264028:A197V	A	+	2	0	ARCN1	117959876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.201000	0.58439	2.797000	0.96272	0.563000	0.77884	GCT		0.488	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			T	118454666	C	T	118454666	3	4	449	1	0	0	0	0	1	0	0	0	842	797	28	2	604	2	ARCN1	11	118454666	Missense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08		118454666	16551850	20	24529											
TMPO	7112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	98927778	98927778	+	Intron	SNP	G	G	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr12:98927778G>T	ENST00000556029.1	+	3	921				TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.Q581H	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.Q581H(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGCATTGCAGATTGCAACTC	0.493																																																1	Substitution - Missense(1)	kidney(1)											90	72	78					12																	98927778		2203	4300	6503	SO:0001627	intron_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+2162G>T	12.37:g.98927778G>T			A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818741	0.50633	.	.	ENSG00000120802	ENST00000266732	T	0.60797	0.16	5.96	4.15	0.48705	.	0.299365	0.29212	N	0.012804	T	0.58438	0.2122	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.65140	0.932	T	0.60281	-0.7294	10	0.72032	D	0.01	.	9.0139	0.36157	0.1677:0.0:0.8323:0.0	.	581	P42166	LAP2A_HUMAN	H	581	ENSP00000266732:Q581H	ENSP00000266732:Q581H	Q	+	3	2	TMPO	97451909	1.000000	0.71417	0.734000	0.30879	0.983000	0.72400	1.512000	0.35812	0.859000	0.35456	0.655000	0.94253	CAG		0.493	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		T	98927778	G	T	98927778	1	4	449	0	1	0	0	0	0	0	0	0	16242	933	33	4		4	TMPO	12	98927778	Intron	SNP	G	TCGA-BP-5201-01A-01D-1429-08		98927778	34924117	21	24530											
HCFC2	29915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104476292	104476293	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr12:104476292_104476293insT	ENST00000229330.4	+	6	886_887	c.782_783insT	c.(781-786)ggtggafs	p.G262fs		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	262					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACATTTTTGGTGGATGGGTCC	0.356																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)											0																																										SO:0001589	frameshift_variant	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.783dupT	12.37:g.104476293_104476293dupT	ENSP00000229330:p.Gly262fs		B2R8Q5|C0H5X3	Frame_Shift_Ins	INS	ENST00000229330.4	37	CCDS9097.1																																																																																				0.356	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		T	104476293	-	T	104476292	7	5	449	1	0	1	1	0	0	0	0	0	6995	1261	44	0	804	0	HCFC2	12	104476292	Frame_Shift_Ins	INS	-	TCGA-BP-5201-01A-01D-1429-08	5548514	104476292	29375603	22	24531											
CYP1A2	1544	hgsc.bcm.edu	37	15	75044488	75044489	+	Frame_Shift_Ins	INS	-	-	G	rs147333000|rs55918015	byFrequency	TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr15:75044488_75044489insG	ENST00000343932.4	+	5	1129_1130	c.1066_1067insG	c.(1066-1068)cggfs	p.R356fs		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	356					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CAGGGAGCGGCGGCCCCGGCTC	0.594																																																0																																										SO:0001589	frameshift_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1068dupG	15.37:g.75044490_75044490dupG	ENSP00000342007:p.Arg356fs		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Frame_Shift_Ins	INS	ENST00000343932.4	37	CCDS32293.1																																																																																				0.594	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		G	75044489	-	G	75044488	7	5	449	1	0	1	1	0	0	0	0	0	4152	759	27	0	1080	0	CYP1A2	15	75044488	Frame_Shift_Ins	INS	-	TCGA-BP-5201-01A-01D-1429-08		75044488	27486904	23	24532											
ZSCAN10	84891	broad.mit.edu	37	16	3139570	3139570	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr16:3139570G>A	ENST00000252463.2	-	5	1787	c.1700C>T	c.(1699-1701)gCc>gTc	p.A567V	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A228V|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A485V	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	567					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A567V(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTGGTGGCGGGCCAGATCCTG	0.731																																																1	Substitution - Missense(1)	kidney(1)											8	9	9					16																	3139570		2166	4213	6379	SO:0001583	missense	84891			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1700C>T	16.37:g.3139570G>A	ENSP00000252463:p.Ala567Val		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.520039	0.00967	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.16897	2.31	5.34	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.546317	0.16839	N	0.197403	T	0.04815	0.0130	N	0.02539	-0.55	0.20975	N	0.999817	B;B;B	0.24823	0.004;0.112;0.044	B;B;B	0.10450	0.001;0.003;0.005	T	0.39981	-0.9587	10	0.12103	T	0.63	-15.062	4.6089	0.12391	0.1888:0.2086:0.6026:0.0	.	228;500;567	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	V	500;567	ENSP00000252463:A567V	ENSP00000252463:A567V	A	-	2	0	ZSCAN10	3079571	0.000000	0.05858	0.948000	0.38648	0.262000	0.26303	0.216000	0.17585	2.504000	0.84457	0.561000	0.74099	GCC		0.731	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		A	3139570	G	A	3139570	3	1	449	1	0	0	0	0	1	0	0	0	18232	1203	42	2	481	2	ZSCAN10	16	3139570	Missense_Mutation	SNP	G	TCGA-BP-5201-01A-01D-1429-08		3139570	87215183	24	24533											
CDT1	81620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88872184	88872184	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr16:88872184T>G	ENST00000301019.4	+	5	1358	c.739T>G	c.(739-741)Tac>Gac	p.Y247D		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1									p.Y247D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CCCGGCCTCCTACCGCTTCCG	0.637																																					Melanoma(159;511 3380 30971)											1	Substitution - Missense(1)	kidney(1)											45	46	45					16																	88872184		2198	4300	6498	SO:0001583	missense	81620			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.739T>G	16.37:g.88872184T>G	ENSP00000301019:p.Tyr247Asp			Missense_Mutation	SNP	ENST00000301019.4	37	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996821	0.54147	.	.	ENSG00000167513	ENST00000301019	T	0.30714	1.52	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69146	-0.5222	10	0.87932	D	0	.	14.3931	0.66994	0.0:0.0:0.0:1.0	.	247	Q9H211	CDT1_HUMAN	D	247	ENSP00000301019:Y247D	ENSP00000301019:Y247D	Y	+	1	0	CDT1	87399685	1.000000	0.71417	0.114000	0.21550	0.041000	0.13682	7.481000	0.81124	1.818000	0.53035	0.379000	0.24179	TAC		0.637	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1	NM_030928		G	88872184	T	G	88872184	3	3	449	1	0	0	0	0	1	0	0	0	3182	1522	53	5	757	5	CDT1	16	88872184	Missense_Mutation	SNP	T	TCGA-BP-5201-01A-01D-1429-08	85732614	88872184	1482569	25	24534											
PHF12	57649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27251182	27251182	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr17:27251182C>T	ENST00000332830.4	-	4	1270	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	PHF12_ENST00000268756.3_Missense_Mutation_p.A154T|PHF12_ENST00000577226.1_Missense_Mutation_p.A154T|PHF12_ENST00000582655.1_5'UTR|RP11-20B24.5_ENST00000580782.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.A154T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGGATCCGGGCATGGGCAATG	0.557																																																1	Substitution - Missense(1)	kidney(1)											105	85	91					17																	27251182		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.460G>A	17.37:g.27251182C>T	ENSP00000329933:p.Ala154Thr			Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448466	0.96205	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94828	-3.48;-3.53;-3.53	5.69	5.69	0.88448	.	0.052478	0.85682	D	0.000000	D	0.94837	0.8332	L	0.44542	1.39	0.58432	D	0.999998	D;D;D;D	0.60575	0.97;0.982;0.988;0.97	P;P;P;P	0.55615	0.607;0.78;0.76;0.607	D	0.93959	0.7239	10	0.38643	T	0.18	-17.1499	18.3578	0.90364	0.0:1.0:0.0:0.0	.	136;154;154;154	B4DFE2;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;PHF12_HUMAN	T	154	ENSP00000329933:A154T;ENSP00000368157:A154T;ENSP00000268756:A154T	ENSP00000268756:A154T	A	-	1	0	PHF12	24275308	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.456000	0.80751	2.680000	0.91292	0.655000	0.94253	GCC		0.557	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		T	27251182	C	T	27251182	3	4	449	1	0	0	0	0	1	0	0	0	11825	710	25	2	2628	2	PHF12	17	27251182	Missense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08		27251182	53944028	26	24535											
KRT31	3881	broad.mit.edu;hgsc.bcm.edu	37	17	39553695	39553695	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr17:39553695C>T	ENST00000251645.2	-	1	149	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	33	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.G33R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TTGCAGGCCCCGGGCAGGGTG	0.637																																																2	Substitution - Missense(2)	kidney(2)											41	45	44					17																	39553695		2203	4300	6503	SO:0001583	missense	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.97G>A	17.37:g.39553695C>T	ENSP00000251645:p.Gly33Arg		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.050482	0.75960	.	.	ENSG00000094796	ENST00000251645	D	0.82167	-1.58	5.82	4.85	0.62838	.	0.000000	0.64402	D	0.000003	D	0.90964	0.7159	M	0.81802	2.56	0.38540	D	0.949199	D	0.89917	1.0	D	0.80764	0.994	D	0.92881	0.6323	10	0.62326	D	0.03	.	15.2224	0.73324	0.1415:0.8585:0.0:0.0	.	33	Q15323	K1H1_HUMAN	R	33	ENSP00000251645:G33R	ENSP00000251645:G33R	G	-	1	0	KRT31	36807221	0.004000	0.15560	0.955000	0.39395	0.782000	0.44232	1.403000	0.34612	1.462000	0.47948	0.655000	0.94253	GGG		0.637	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		T	39553695	C	T	39553695	3	4	449	1	0	0	0	0	1	0	0	0	8469	652	23	1	1181	1	KRT31	17	39553695	Missense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08	12302513	39553695	41641515	27	24536											
VAT1	10493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41169909	41169909	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr17:41169909T>A	ENST00000420567.3	-	4	548	c.403A>T	c.(403-405)Act>Tct	p.T135S	VAT1_ENST00000587173.1_Missense_Mutation_p.T201S|VAT1_ENST00000355653.3_Missense_Mutation_p.T269S			P54219	VMAT1_HUMAN	vesicle amine transport 1	0					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.T269S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CCCTTGGCAGTATCTGACCCA	0.552																																																1	Substitution - Missense(1)	kidney(1)											116	99	105					17																	41169909		2203	4300	6503	SO:0001583	missense	10493			U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828			16919	protein-coding gene	gene with protein product		604631	"vesicle amine transport protein 1 homolog (T. californica)"			7774926, 8938427	Standard	NM_006373		Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000420567.3:c.403A>T	17.37:g.41169909T>A	ENSP00000408553:p.Thr135Ser		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000420567.3	37		.	.	.	.	.	.	.	.	.	.	T	15.06	2.722054	0.48728	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.03982	3.74;3.74	5.38	5.38	0.77491	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.047350	0.85682	D	0.000000	T	0.06872	0.0175	L	0.49513	1.565	0.58432	D	0.999999	P;B	0.40398	0.716;0.417	B;B	0.39068	0.289;0.27	T	0.46638	-0.9177	10	0.20046	T	0.44	-0.2776	15.3917	0.74751	0.0:0.0:0.0:1.0	.	201;269	B4DPX4;Q99536	.;VAT1_HUMAN	S	269;176;135	ENSP00000347872:T269S;ENSP00000408553:T135S	ENSP00000347872:T269S	T	-	1	0	VAT1	38423435	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.024000	0.88770	2.035000	0.60131	0.379000	0.24179	ACT		0.552	VAT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453104.1	NM_006373		A	41169909	T	A	41169909	3	1	449	1	0	0	0	0	1	0	0	0	17134	1638	57	5	388	5	VAT1	17	41169909	Missense_Mutation	SNP	T	TCGA-BP-5201-01A-01D-1429-08	1616214	41169909	40025301	28	24537											
LRRC37A2	474170	broad.mit.edu	37	17	44625842	44625842	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr17:44625842delG	ENST00000576629.1	+	10	3832	c.3337delG	c.(3337-3339)gagfs	p.E1113fs	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Frame_Shift_Del_p.E1113fs|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1113						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CACCAATGACGAGAGTGATTT	0.453																																																0													2	2	2					17																	44625842		611	1784	2395	SO:0001589	frameshift_variant	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3337delG	17.37:g.44625842delG	ENSP00000459551:p.Glu1113fs		B7ZMC3	Frame_Shift_Del	DEL	ENST00000576629.1	37	CCDS42353.1																																																																																				0.453	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		-	44625842	G	-	44625842	7	5	449	1	0	1	0	1	0	0	0	0	8994	1059	37	0	3371	0	LRRC37A2	17	44625842	Frame_Shift_Del	DEL	G	TCGA-BP-5201-01A-01D-1429-08	3455933	44625842	36569368	29	24538											
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	6980564	6980564	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr18:6980564C>T	ENST00000389658.3	-	42	6056	c.5963G>A	c.(5962-5964)aGg>aAg	p.R1988K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1988	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R1988K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATTGGTTTGCCTGGTAATTTC	0.343																																																1	Substitution - Missense(1)	kidney(1)											197	172	181					18																	6980564		2202	4300	6502	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5963G>A	18.37:g.6980564C>T	ENSP00000374309:p.Arg1988Lys			Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	7.465	0.645525	0.14451	.	.	ENSG00000101680	ENST00000389658	T	0.15256	2.44	5.15	0.684	0.18003	.	1.389440	0.04448	N	0.372139	T	0.13030	0.0316	L	0.41710	1.295	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33394	-0.9870	10	0.02654	T	1	.	8.4338	0.32775	0.0:0.51:0.0:0.49	.	1988	P25391	LAMA1_HUMAN	K	1988	ENSP00000374309:R1988K	ENSP00000374309:R1988K	R	-	2	0	LAMA1	6970564	0.021000	0.18746	0.241000	0.24154	0.927000	0.56198	0.278000	0.18753	0.265000	0.21872	0.655000	0.94253	AGG		0.343	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	6980564	C	T	6980564	3	4	449	1	0	0	0	0	1	0	0	0	8607	681	24	2	3352	2	LAMA1	18	6980564	Missense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08		6980564	71096684	30	24539											
ELP2	55250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33734957	33734957	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr18:33734957T>G	ENST00000358232.6	+	12	1333	c.1270T>G	c.(1270-1272)Tca>Gca	p.S424A	ELP2_ENST00000423854.2_Missense_Mutation_p.S354A|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000351393.6_Missense_Mutation_p.S398A|ELP2_ENST00000542824.1_Missense_Mutation_p.S354A|ELP2_ENST00000442325.2_Missense_Mutation_p.S489A|ELP2_ENST00000350494.6_Missense_Mutation_p.S419A	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	424					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)		p.S424A(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						AAAAGACCAATCACAGGTAAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											104	104	104					18																	33734957		2203	4300	6503	SO:0001583	missense	55250			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.1270T>G	18.37:g.33734957T>G	ENSP00000350967:p.Ser424Ala		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738588	0.30774	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.65732	-0.17;2.28;1.06;2.28;-0.01;-0.17	5.68	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.462420	0.22438	N	0.060046	T	0.45875	0.1364	L	0.31526	0.94	0.35684	D	0.814312	B;B;B;B;B;B	0.21606	0.058;0.058;0.009;0.056;0.007;0.009	B;B;B;B;B;B	0.23419	0.017;0.023;0.015;0.046;0.023;0.015	T	0.47032	-0.9148	10	0.10111	T	0.7	-6.6287	10.6411	0.45594	0.0:0.0:0.1607:0.8393	.	419;489;354;354;398;424	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	A	424;398;489;354;419;354	ENSP00000350967:S424A;ENSP00000257191:S398A;ENSP00000414851:S489A;ENSP00000391202:S354A;ENSP00000316051:S419A;ENSP00000443800:S354A	ENSP00000316051:S419A	S	+	1	0	ELP2	31988955	0.602000	0.26916	0.990000	0.47175	0.921000	0.55340	1.307000	0.33516	2.162000	0.67917	0.459000	0.35465	TCA		0.408	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		G	33734957	T	G	33734957	3	3	449	1	0	0	0	0	1	0	0	0	5082	1435	50	5	1316	5	ELP2	18	33734957	Missense_Mutation	SNP	T	TCGA-BP-5201-01A-01D-1429-08	26754393	33734957	44342291	31	24540											
LONP1	9361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	5699087	5699087	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr19:5699087G>C	ENST00000360614.3	-	10	1793	c.1636C>G	c.(1636-1638)Cgc>Ggc	p.R546G	LONP1_ENST00000585374.1_Missense_Mutation_p.R432G|LONP1_ENST00000590729.1_Missense_Mutation_p.R416G|LONP1_ENST00000540670.2_Missense_Mutation_p.R350G|LONP1_ENST00000593119.1_Missense_Mutation_p.R482G	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial									p.R546G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACGCTGAAGCGGAAGTACTCT	0.647																																																1	Substitution - Missense(1)	kidney(1)											60	52	55					19																	5699087		2203	4300	6503	SO:0001583	missense	9361			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1636C>G	19.37:g.5699087G>C	ENSP00000353826:p.Arg546Gly			Missense_Mutation	SNP	ENST00000360614.3	37	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501487	0.85176	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	D;D	0.93366	-3.21;-3.21	4.73	4.73	0.59995	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	H	0.96805	3.885	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	D	0.99187	1.0869	10	0.87932	D	0	-24.7376	15.1874	0.73016	0.0:0.0:1.0:0.0	.	546;482;546	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	G	546;510;350	ENSP00000353826:R546G;ENSP00000441523:R350G	ENSP00000351177:R510G	R	-	1	0	LONP1	5650087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.301000	0.78850	2.183000	0.69458	0.549000	0.68633	CGC		0.647	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		C	5699087	G	C	5699087	3	2	449	1	0	0	0	0	1	0	0	0	8894	1116	39	4	1279	4	LONP1	19	5699087	Missense_Mutation	SNP	G	TCGA-BP-5201-01A-01D-1429-08		5699087	53429896	32	24541											
ADAMTS10	81794	broad.mit.edu	37	19	8651052	8651052	+	Missense_Mutation	SNP	G	G	T	rs200370843		TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr19:8651052G>T	ENST00000597188.1	-	22	2884	c.2614C>A	c.(2614-2616)Ctg>Atg	p.L872M	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.L359M|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.L872M	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	872	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L872M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTTTTGGGCAGCTTGCTGTGG	0.672											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2614C>A	19.37:g.8651052G>T	ENSP00000471851:p.Leu872Met	81	M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208318	0.39003	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.61392	0.11	4.14	3.09	0.35607	.	0.297372	0.29335	U	0.012455	T	0.28632	0.0709	N	0.04880	-0.145	0.28154	N	0.929281	B;B;B	0.31026	0.304;0.121;0.23	B;B;B	0.27076	0.076;0.063;0.053	T	0.15636	-1.0430	10	0.66056	D	0.02	.	2.2309	0.03996	0.1033:0.1625:0.4193:0.315	.	626;872;359	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	M	872;626	ENSP00000270328:L872M	ENSP00000270328:L872M	L	-	1	2	ADAMTS10	8557052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.702000	0.47102	0.918000	0.36919	0.561000	0.74099	CTG		0.672	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		T	8651052	G	T	8651052	3	4	449	1	0	0	0	0	1	0	0	0	256	962	34	4	717	4	ADAMTS10	19	8651052	Missense_Mutation	SNP	G	TCGA-BP-5201-01A-01D-1429-08	2951965	8651052	50477931	33	24542											
NDUFA13	51079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19637065	19637065	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr19:19637065C>T	ENST00000507754.4	+	2	653	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	YJEFN3_ENST00000436027.5_5'Flank|NDUFA13_ENST00000503283.1_Missense_Mutation_p.R57C|NDUFA13_ENST00000512771.3_Missense_Mutation_p.R57C|YJEFN3_ENST00000608404.1_Missense_Mutation_p.R57C|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000252576.5_Missense_Mutation_p.R140C|YJEFN3_ENST00000514277.4_5'Flank|NDUFA13_ENST00000428459.2_Missense_Mutation_p.R57C|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.R57C			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	57					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.R140C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GAACCGTGAGCGCAGGTAGGG	0.612																																																1	Substitution - Missense(1)	kidney(1)											79	65	70					19																	19637065		2203	4300	6503	SO:0001583	missense	51079			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.169C>T	19.37:g.19637065C>T	ENSP00000423673:p.Arg57Cys		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064137	0.55432	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	T;T;T	0.78364	-1.17;-1.17;-1.17	4.58	4.58	0.56647	.	0.056879	0.64402	D	0.000004	D	0.89276	0.6669	M	0.90369	3.11	0.36260	D	0.854516	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.987;0.991	D	0.93240	0.6625	10	0.66056	D	0.02	.	12.9354	0.58311	0.0:1.0:0.0:0.0	.	57;57;57	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	C	57;140;57;57	ENSP00000423673:R57C;ENSP00000252576:R140C;ENSP00000452549:R57C	ENSP00000252576:R140C	R	+	1	0	YJEFN3;NDUFA13;CTC-260F20.3	19498065	0.982000	0.34865	0.956000	0.39512	0.231000	0.25187	1.774000	0.38573	2.112000	0.64535	0.585000	0.79938	CGC		0.612	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		T	19637065	C	T	19637065	3	4	449	1	0	0	0	0	1	0	0	0	10265	768	27	1	175	1	NDUFA13	19	19637065	Missense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08	10986013	19637065	39491918	34	24543											
ADAM33	80332	broad.mit.edu;hgsc.bcm.edu	37	20	3653456	3653456	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr20:3653456G>A	ENST00000356518.2	-	12	1464	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	ADAM33_ENST00000350009.2_Missense_Mutation_p.A408V|ADAM33_ENST00000379861.4_Missense_Mutation_p.A408V|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	408	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A408V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGGGTCCGGGGCATTGGAGAG	0.726																																																1	Substitution - Missense(1)	kidney(1)											6	8	8					20																	3653456		2032	4036	6068	SO:0001583	missense	80332			AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1223C>T	20.37:g.3653456G>A	ENSP00000348912:p.Ala408Val		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	g	6.465	0.453995	0.12283	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.64260	-0.09;-0.09;-0.09	4.43	0.204	0.15199	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.37265	0.0997	N	0.11892	0.195	0.09310	N	1	B;B;B	0.16802	0.015;0.019;0.019	B;B;B	0.09377	0.002;0.004;0.004	T	0.19614	-1.0300	9	0.14656	T	0.56	.	7.9882	0.30224	0.5651:0.0:0.4349:0.0	.	408;408;408	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	V	408;408;408;288	ENSP00000348912:A408V;ENSP00000369190:A408V;ENSP00000322550:A408V	ENSP00000322550:A408V	A	-	2	0	ADAM33	3601456	0.003000	0.15002	0.001000	0.08648	0.681000	0.39784	0.432000	0.21461	-0.088000	0.12506	0.306000	0.20318	GCC		0.726	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		A	3653456	G	A	3653456	3	1	449	1	0	0	0	0	1	0	0	0	250	1203	42	2	1262	2	ADAM33	20	3653456	Missense_Mutation	SNP	G	TCGA-BP-5201-01A-01D-1429-08		3653456	59372064	35	24544											
RALGAPB	57148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37150191	37150191	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr20:37150191C>T	ENST00000262879.6	+	10	1753	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	RALGAPB_ENST00000397040.1_Missense_Mutation_p.S490F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S268F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.S490F|RALGAPB_ENST00000537204.1_Intron			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	490					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.S490F(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCACAAATGTCCACAGACACC	0.438																																																1	Substitution - Missense(1)	kidney(1)											171	145	154					20																	37150191		2203	4300	6503	SO:0001583	missense	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1469C>T	20.37:g.37150191C>T	ENSP00000262879:p.Ser490Phe		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440092	0.63067	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.69078	0.994;0.994;0.997;0.994	D;D;D;D	0.80764	0.989;0.989;0.994;0.989	T	0.66563	-0.5892	9	0.11794	T	0.64	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	318;490;490;490	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	F	490;490;490;268;490;318	.	ENSP00000262879:S490F	S	+	2	0	RALGAPB	36583605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.826000	0.97356	0.561000	0.74099	TCC		0.438	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		T	37150191	C	T	37150191	3	4	449	1	0	0	0	0	1	0	0	0	13021	855	30	2	1503	2	RALGAPB	20	37150191	Missense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08	33496735	37150191	25875329	36	24545											
ITSN1	6453	broad.mit.edu	37	21	35153771	35153771	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chr21:35153771C>A	ENST00000381318.3	+	15	1891	c.1603C>A	c.(1603-1605)Cag>Aag	p.Q535K	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.Q535K|ITSN1_ENST00000399355.2_Missense_Mutation_p.Q535K|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q535K|ITSN1_ENST00000399352.1_Missense_Mutation_p.Q535K|ITSN1_ENST00000399353.1_Missense_Mutation_p.Q498K|ITSN1_ENST00000399338.4_Missense_Mutation_p.Q535K|ITSN1_ENST00000399349.1_Missense_Mutation_p.Q535K|ITSN1_ENST00000399326.3_Missense_Mutation_p.Q535K|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q535K|ITSN1_ENST00000379960.5_Missense_Mutation_p.Q535K|ITSN1_ENST00000381291.4_Missense_Mutation_p.Q535K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	535	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q535K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCAGGAATCTCAGCAAATGCT	0.383																																																1	Substitution - Missense(1)	kidney(1)											113	111	112					21																	35153771		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1603C>A	21.37:g.35153771C>A	ENSP00000370719:p.Gln535Lys		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810671	0.90707	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.39997	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;1.83;2.58;2.58;1.05	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.59436	1.845	0.80722	D	1	D;D;P;P;P;D;P;P;P;D	0.63880	0.984;0.972;0.924;0.885;0.891;0.993;0.934;0.934;0.841;0.972	P;P;P;P;B;D;P;P;P;P	0.67548	0.724;0.655;0.9;0.599;0.387;0.952;0.53;0.53;0.583;0.655	T	0.61729	-0.7003	10	0.54805	T	0.06	.	19.3849	0.94553	0.0:1.0:0.0:0.0	.	498;498;498;535;535;535;535;535;535;498	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	K	498;535;535;535;535;535;535;535;535;535;535;535;535;535	ENSP00000382290:Q498K;ENSP00000370719:Q535K;ENSP00000370691:Q535K;ENSP00000370685:Q535K;ENSP00000382301:Q535K;ENSP00000382289:Q535K;ENSP00000382292:Q535K;ENSP00000382286:Q535K;ENSP00000382275:Q535K;ENSP00000387377:Q535K;ENSP00000382265:Q535K;ENSP00000369294:Q535K	ENSP00000369294:Q535K	Q	+	1	0	ITSN1	34075641	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.603000	0.82811	2.632000	0.89209	0.557000	0.71058	CAG		0.383	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		A	35153771	C	A	35153771	3	1	449	1	0	0	0	0	1	0	0	0	7928	827	29	4	1657	4	ITSN1	21	35153771	Missense_Mutation	SNP	C	TCGA-BP-5201-01A-01D-1429-08		35153771	12976124	37	24546											
KDM6A	7403	broad.mit.edu;hgsc.bcm.edu	37	X	44928976	44928976	+	Silent	SNP	G	G	A			TCGA-BP-5201-01A-01D-1429-08	TCGA-BP-5201-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	243c77a9-1591-45ac-b048-a5687a77c764	5308d75f-580e-4f35-bd1f-3340a8bd9a8d	g.chrX:44928976G>A	ENST00000377967.4	+	17	2117	c.2076G>A	c.(2074-2076)caG>caA	p.Q692Q	KDM6A_ENST00000382899.4_Silent_p.Q699Q|KDM6A_ENST00000536777.1_Silent_p.Q647Q|KDM6A_ENST00000543216.1_Silent_p.Q613Q	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	692	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.Q692Q(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAGTAACACAGGGGGCTGCTC	0.517			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	7	Whole gene deletion(6)|Substitution - coding silent(1)	oesophagus(2)|breast(2)|pancreas(2)|kidney(1)											101	74	83					X																	44928976		2203	4300	6503	SO:0001819	synonymous_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2076G>A	X.37:g.44928976G>A			Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	5.877	0.345943	0.11126	.	.	ENSG00000147050	ENST00000414389;ENST00000433797	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	T	0.73969	0.3655	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73572	-0.3940	4	.	.	.	-1.0876	17.9308	0.88996	0.0:0.0:1.0:0.0	.	.	.	.	R	290;335	.	.	G	+	1	0	KDM6A	44813920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.328000	0.65887	2.255000	0.74692	0.600000	0.82982	GGG		0.517	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		A	44928976	G	A	44928976	2	1	449	1	0	0	0	0	0	0	0	1	8139	991	35	2		2	KDM6A	23	44928976	Silent	SNP	G	TCGA-BP-5201-01A-01D-1429-08		44928976	110341584	38	24547											
ACTRT2	140625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	2938986	2938986	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:2938986G>A	ENST00000378404.2	+	1	941	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	246						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D246N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CAAGCTGCCCGACGGGAACAT	0.652																																																1	Substitution - Missense(1)	kidney(1)											36	41	39					1																	2938986		2203	4299	6502	SO:0001583	missense	140625			AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.736G>A	1.37:g.2938986G>A	ENSP00000367658:p.Asp246Asn		B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503434	0.64298	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.97772	-4.53	4.85	3.92	0.45320	.	0.096799	0.41938	D	0.000787	D	0.95806	0.8635	M	0.64997	1.995	0.54753	D	0.999986	P	0.44309	0.832	B	0.39590	0.304	D	0.95707	0.8754	10	0.87932	D	0	.	11.2525	0.49034	0.0903:0.0:0.9097:0.0	.	246	Q8TDY3	ACTT2_HUMAN	N	246	ENSP00000367658:D246N	ENSP00000367658:D246N	D	+	1	0	ACTRT2	2928846	1.000000	0.71417	0.921000	0.36526	0.458000	0.32498	7.831000	0.86748	2.228000	0.72767	0.561000	0.74099	GAC		0.652	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		A	2938986	G	A	2938986	3	1	450	1	0	0	0	0	1	0	0	0	219	1058	37	1	738	1	ACTRT2	1	2938986	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08		2938986	246311635	1	24548											
FBXO2	26232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11709907	11709907	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:11709907A>C	ENST00000354287.4	-	4	887	c.546T>G	c.(544-546)atT>atG	p.I182M	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	182	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)	p.I182M(1)		kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCAGGTCAATGACCTGTG	0.617																																																1	Substitution - Missense(1)	kidney(1)											100	93	95					1																	11709907		2203	4300	6503	SO:0001583	missense	26232			AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"F-boxes /  "other""	13581	protein-coding gene	gene with protein product		607112	"F-box only protein 2", "organ of Corti protein 1"	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.546T>G	1.37:g.11709907A>C	ENSP00000346240:p.Ile182Met		B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Missense_Mutation	SNP	ENST00000354287.4	37	CCDS130.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168775	0.57584	.	.	ENSG00000116661	ENST00000354287	T	0.35236	1.32	4.87	-0.575	0.11734	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.336821	0.34156	N	0.004209	T	0.53834	0.1821	M	0.85945	2.785	0.39380	D	0.96624	D	0.54601	0.967	D	0.69479	0.964	T	0.52653	-0.8547	10	0.87932	D	0	.	4.7051	0.12846	0.521:0.3112:0.1678:0.0	.	182	Q9UK22	FBX2_HUMAN	M	182	ENSP00000346240:I182M	ENSP00000346240:I182M	I	-	3	3	FBXO2	11632494	0.007000	0.16637	0.541000	0.28102	0.516000	0.34256	-1.027000	0.03592	-0.295000	0.08960	0.459000	0.35465	ATT		0.617	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1	NM_012168		C	11709907	A	C	11709907	3	2	450	1	0	0	0	0	1	0	0	0	5734	126	5	5	356	5	FBXO2	1	11709907	Missense_Mutation	SNP	A	TCGA-BP-5202-01A-02D-1429-08	8770921	11709907	237540714	2	24549											
CATSPER4	378807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26517881	26517881	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:26517881C>T	ENST00000456354.2	+	2	384	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	106					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.A106V(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GTGATCAATGCCATCACCATC	0.592																																																1	Substitution - Missense(1)	kidney(1)											97	78	85					1																	26517881		2203	4300	6503	SO:0001583	missense	378807			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.317C>T	1.37:g.26517881C>T	ENSP00000390423:p.Ala106Val		A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538799	0.85917	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97256	-4.31;-4.31	5.68	4.76	0.60689	.	0.120710	0.37136	N	0.002225	D	0.97235	0.9096	L	0.54323	1.7	0.32784	N	0.502106	D	0.76494	0.999	P	0.61800	0.894	D	0.99016	1.0816	10	0.72032	D	0.01	-11.8127	12.2967	0.54852	0.0:0.8114:0.1886:0.0	.	106	Q7RTX7	CTSR4_HUMAN	V	106	ENSP00000341006:A106V;ENSP00000390423:A106V	ENSP00000341006:A106V	A	+	2	0	CATSPER4	26390468	0.993000	0.37304	0.989000	0.46669	0.883000	0.51084	1.947000	0.40293	1.372000	0.46190	0.462000	0.41574	GCC		0.592	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		T	26517881	C	T	26517881	3	4	450	1	0	0	0	0	1	0	0	0	2692	739	26	2	323	2	CATSPER4	1	26517881	Missense_Mutation	SNP	C	TCGA-BP-5202-01A-02D-1429-08	14807974	26517881	222732740	3	24550											
HRNR	388697	broad.mit.edu;hgsc.bcm.edu	37	1	152185823	152185823	+	Missense_Mutation	SNP	C	C	A	rs41266120|rs71585888	byFrequency	TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:152185823C>A	ENST00000368801.2	-	3	8357	c.8282G>T	c.(8281-8283)cGa>cTa	p.R2761L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2761					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R2761L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCCCATGTCGGCCATAGCC	0.602																																																1	Substitution - Missense(1)	kidney(1)											51	33	40					1																	152185823		1950	3088	5038	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8282G>T	1.37:g.152185823C>A	ENSP00000357791:p.Arg2761Leu		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	c	6.929	0.541107	0.13250	.	.	ENSG00000197915	ENST00000368801	T	0.01767	4.65	3.92	-0.629	0.11533	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	P	0.35242	0.492	B	0.25987	0.065	T	0.40365	-0.9567	9	0.24483	T	0.36	.	5.9811	0.19407	0.1297:0.157:0.0:0.7133	.	2761	Q86YZ3	HORN_HUMAN	L	2761	ENSP00000357791:R2761L	ENSP00000357791:R2761L	R	-	2	0	HRNR	150452447	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.025000	0.12413	-0.544000	0.06232	-1.978000	0.00458	CGA		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		A	152185823	C	A	152185823	3	1	450	1	0	0	0	0	1	0	0	0	7361	884	31	4	274	4	HRNR	1	152185823	Missense_Mutation	SNP	C	TCGA-BP-5202-01A-02D-1429-08	125667942	152185823	97064798	4	24551											
NIT1	4817	hgsc.bcm.edu;ucsc.edu	37	1	161089670	161089683	+	Frame_Shift_Del	DEL	GCCTATGTGTGAAA	GCCTATGTGTGAAA	-			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	GCCTATGTGTGAAA	GCCTATGTGTGAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:161089670_161089683delGCCTATGTGTGAAA	ENST00000368009.2	+	5	595_608	c.519_532delGCCTATGTGTGAAA	c.(517-534)gggcctatgtgtgaaagcfs	p.PMCES174fs	DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000368008.1_Frame_Shift_Del_p.PMCES174fs|NIT1_ENST00000392190.5_Frame_Shift_Del_p.PMCES138fs|NIT1_ENST00000496861.1_3'UTR|PFDN2_ENST00000368010.3_5'Flank|PFDN2_ENST00000468311.1_5'Flank|NIT1_ENST00000368007.4_Frame_Shift_Del_p.PMCES159fs	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	174	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGGGCAGGGGCCTATGTGTGAAAGCAACTCTAC	0.514											OREG0013937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	4817			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.519_532delGCCTATGTGTGAAA	1.37:g.161089670_161089683delGCCTATGTGTGAAA	ENSP00000356988:p.Pro174fs	1814	B1AQP3|D3DVF4|O76091	Frame_Shift_Del	DEL	ENST00000368009.2	37	CCDS1218.1																																																																																				0.514	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077060.1			-	161089683	GCCTATGTGTGAAA	-	161089670	7	5	450	1	0	1	0	1	0	0	0	0	10435	1190	42	0	594	0	NIT1	1	161089670	Frame_Shift_Del	DEL	GCCTATGTGTGAAA	TCGA-BP-5202-01A-02D-1429-08	8903847	161089670	88160951	5	24552											
BTG2	7832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203276485	203276485	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:203276485T>A	ENST00000290551.4	+	2	467	c.396T>A	c.(394-396)tgT>tgA	p.C132*	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	132					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.C132*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCGCCTCCTGTGGGCTCCTCA	0.652																																																1	Substitution - Nonsense(1)	kidney(1)											43	46	45					1																	203276485		2203	4300	6503	SO:0001587	stop_gained	7832				CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"B-cell translocation gene 2", "pheochromacytoma cell-3", "NGF-inducible anti-proliferative protein PC3", "nerve growth factor-inducible anti-proliferative"	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.396T>A	1.37:g.203276485T>A	ENSP00000290551:p.Cys132*		A0A024R986|Q3KR25|Q5VUT0	Nonsense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285898	0.59867	.	.	ENSG00000159388	ENST00000290551	.	.	.	5.06	-7.3	0.01446	.	0.551776	0.17870	N	0.159210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-11.903	10.9392	0.47264	0.1051:0.5539:0.0:0.3409	.	.	.	.	X	132	.	ENSP00000290551:C132X	C	+	3	2	BTG2	201543108	0.005000	0.15991	0.409000	0.26459	0.525000	0.34531	-0.613000	0.05610	-1.495000	0.01831	0.260000	0.18958	TGT		0.652	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		A	203276485	T	A	203276485	4	1	450	1	0	0	0	0	0	1	0	0	1556	1702	59	5	402	5	BTG2	1	203276485	Nonsense_Mutation	SNP	T	TCGA-BP-5202-01A-02D-1429-08	42186815	203276485	45974136	6	24553											
OPTC	26254	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203465247	203465247	+	Silent	SNP	C	C	T	rs139083417		TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:203465247C>T	ENST00000367222.2	+	2	230	c.114C>T	c.(112-114)ggC>ggT	p.G38G		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	38					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G38G(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGGGAAGGCGATTCCTTTG	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20811	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	137	121	127		114	-8.2	0	1	dbSNP_134	127	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	OPTC	NM_014359.3		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		38/333	203465247	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	26254			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"oculoglycan"	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.114C>T	1.37:g.203465247C>T			Q5T2G4	Silent	SNP	ENST00000367222.2	37	CCDS1439.1																																																																																				0.527	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		T	203465247	C	T	203465247	2	4	450	1	0	0	0	0	0	0	0	1	10890	755	27	1		1	OPTC	1	203465247	Silent	SNP	C	TCGA-BP-5202-01A-02D-1429-08	188762	203465247	45785374	7	24554											
RCOR3	55758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	211486237	211486237	+	Silent	SNP	T	T	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:211486237T>A	ENST00000367005.4	+	10	1218	c.1077T>A	c.(1075-1077)acT>acA	p.T359T	RCOR3_ENST00000367006.4_Intron|RCOR3_ENST00000419091.2_Silent_p.T417T|RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000452621.2_Silent_p.T417T	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T359T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATGCTTCTACTTTAGGGGAGG	0.443																																																1	Substitution - coding silent(1)	kidney(1)											129	125	127					1																	211486237		2203	4300	6503	SO:0001819	synonymous_variant	55758			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.1077T>A	1.37:g.211486237T>A			B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Silent	SNP	ENST00000367005.4	37	CCDS31016.1																																																																																				0.443	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		A	211486237	T	A	211486237	2	1	450	1	0	0	0	0	0	0	0	1	13190	1596	56	5		5	RCOR3	1	211486237	Silent	SNP	T	TCGA-BP-5202-01A-02D-1429-08	8020990	211486237	37764384	8	24555											
EPM2AIP1	9852	hgsc.bcm.edu	37	3	37032775	37032775	+	Silent	SNP	A	A	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr3:37032775A>T	ENST00000322716.5	-	1	2020	c.1794T>A	c.(1792-1794)ctT>ctA	p.L598L	MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	598					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TTTCTCTCACAAGGTCATCCC	0.393																																																0													86	85	86					3																	37032775		1843	4087	5930	SO:0001819	synonymous_variant	9852			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1794T>A	3.37:g.37032775A>T			O94866|Q9H3L3	Silent	SNP	ENST00000322716.5	37	CCDS46790.1																																																																																				0.393	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		T	37032775	A	T	37032775	2	4	450	1	0	0	0	0	0	0	0	1	5186	117	5	5		5	EPM2AIP1	3	37032775	Silent	SNP	A	TCGA-BP-5202-01A-02D-1429-08		37032775	160989655	9	24556											
COL6A6	131873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130283940	130283940	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr3:130283940G>T	ENST00000358511.6	+	3	795	c.764G>T	c.(763-765)aGt>aTt	p.S255I	COL6A6_ENST00000453409.2_Missense_Mutation_p.S255I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	255	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.S255I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGGAAGAAAGTGTATCTGCC	0.413																																																1	Substitution - Missense(1)	kidney(1)											143	141	141					3																	130283940		1894	4121	6015	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.764G>T	3.37:g.130283940G>T	ENSP00000351310:p.Ser255Ile		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	2.163	-0.391613	0.04932	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.74315	-0.83;-0.83	5.09	4.15	0.48705	von Willebrand factor, type A (3);	0.086233	0.50627	D	0.000106	T	0.37999	0.1024	N	0.00996	-1.065	0.09310	N	1	B	0.26775	0.159	B	0.28638	0.092	T	0.44421	-0.9329	10	0.05351	T	0.99	.	7.8429	0.29408	0.0:0.2393:0.5047:0.2559	.	255	A6NMZ7	CO6A6_HUMAN	I	255	ENSP00000351310:S255I;ENSP00000399236:S255I	ENSP00000351310:S255I	S	+	2	0	COL6A6	131766630	0.046000	0.20272	0.922000	0.36590	0.976000	0.68499	2.525000	0.45598	2.538000	0.85594	0.561000	0.74099	AGT		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		T	130283940	G	T	130283940	3	4	450	1	0	0	0	0	1	0	0	0	3705	1029	36	4	774	4	COL6A6	3	130283940	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08	93251165	130283940	67738490	10	24557											
C4orf23	152992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8469669	8469669	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr4:8469669A>G	ENST00000389737.4	+	9	1523	c.1523A>G	c.(1522-1524)tAc>tGc	p.Y508C	TRMT44_ENST00000513449.2_Missense_Mutation_p.Y267C	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	508					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.Y508C(1)|p.Y116C(1)									TCCAGAACATACCCTTCCTCC	0.493																																																2	Substitution - Missense(2)	kidney(2)											54	62	59					4																	8469669		2203	4300	6503	SO:0001583	missense	0			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1523A>G	4.37:g.8469669A>G	ENSP00000374387:p.Tyr508Cys		Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926061	0.52759	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.46819	0.86;0.86	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.81497	2.545	0.54753	D	0.999984	D;D	0.89917	0.999;1.0	D;D	0.80764	0.96;0.994	T	0.74331	-0.3700	10	0.87932	D	0	-29.7774	13.7575	0.62946	1.0:0.0:0.0:0.0	.	508;267	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	C	267;508;116	ENSP00000424643:Y267C;ENSP00000374387:Y508C	ENSP00000285635:Y116C	Y	+	2	0	METTL19	8520569	1.000000	0.71417	0.875000	0.34327	0.242000	0.25591	6.294000	0.72738	2.183000	0.69458	0.533000	0.62120	TAC		0.493	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		G	8469669	A	G	8469669	3	3	450	1	0	0	0	0	1	0	0	0	2258	391	14	3	1557	3	C4orf23	4	8469669	Missense_Mutation	SNP	A	TCGA-BP-5202-01A-02D-1429-08		8469669	182684607	11	24558											
GABRG1	2565	hgsc.bcm.edu	37	4	46043264	46043264	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr4:46043264G>T	ENST00000295452.4	-	9	1306	c.1139C>A	c.(1138-1140)cCt>cAt	p.P380H		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	380					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P380H(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGGAGACCAGGAGTCATCTG	0.393																																																1	Substitution - Missense(1)	kidney(1)											48	51	50					4																	46043264		2203	4298	6501	SO:0001583	missense	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1139C>A	4.37:g.46043264G>T	ENSP00000295452:p.Pro380His		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.411043	0.25465	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.83914	-1.78	5.22	5.22	0.72569	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.115560	0.06533	N	0.741741	D	0.83133	0.5188	L	0.34521	1.04	0.21105	N	0.99979	P	0.42556	0.783	P	0.49637	0.617	T	0.71755	-0.4497	10	0.46703	T	0.11	.	10.9256	0.47189	0.0867:0.0:0.9133:0.0	.	380	Q8N1C3	GBRG1_HUMAN	H	380	ENSP00000295452:P380H	ENSP00000295452:P380H	P	-	2	0	GABRG1	45738021	0.744000	0.28250	0.288000	0.24862	0.005000	0.04900	3.389000	0.52516	2.436000	0.82500	0.585000	0.79938	CCT		0.393	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		T	46043264	G	T	46043264	3	4	450	1	0	0	0	0	1	0	0	0	6173	1000	35	4	262	4	GABRG1	4	46043264	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08	37573595	46043264	145111012	12	24559											
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu	37	4	79296891	79296891	+	Splice_Site	SNP	A	A	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr4:79296891A>T	ENST00000325942.6	+	26	3591		c.e26-1		FRAS1_ENST00000264895.6_Splice_Site	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1						cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.?(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTTTTTTAATAGCCTGCCCTC	0.483																																																3	Unknown(3)	kidney(3)											68	62	64					4																	79296891		1933	4140	6073	SO:0001630	splice_region_variant	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3152-1A>T	4.37:g.79296891A>T			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867306	0.32977	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8707	0.63617	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRAS1	79515915	1.000000	0.71417	0.946000	0.38457	0.018000	0.09664	6.781000	0.75068	1.964000	0.57103	0.460000	0.39030	.		0.483	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		Intron	T	79296891	A	T	79296891	5	4	450	1	0	0	0	0	0	0	1	0	6044	434	15	5	3252	5	FRAS1	4	79296891	Splice_Site	SNP	A	TCGA-BP-5202-01A-02D-1429-08	33253627	79296891	111857385	13	24560											
NPNT	255743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	106848559	106848561	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	GTT	GTT	GTT	-	GTT	GTT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr4:106848559_106848561delGTT	ENST00000379987.2	+	3	455_457	c.239_241delGTT	c.(238-243)ggttat>gat	p.80_81GY>D	NPNT_ENST00000453617.2_In_Frame_Del_p.97_98GY>D|RP11-710F7.2_ENST00000511059.1_RNA|NPNT_ENST00000513430.1_3'UTR|RP11-710F7.2_ENST00000512514.1_RNA|NPNT_ENST00000305572.8_In_Frame_Del_p.80_81GY>D|NPNT_ENST00000427316.2_In_Frame_Del_p.80_81GY>D|NPNT_ENST00000506666.1_In_Frame_Del_p.80_81GY>D|NPNT_ENST00000514622.1_In_Frame_Del_p.80_81GY>D	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	80	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGTCATCCTGGTTATGCTGGAAA	0.399																																																0																																										SO:0001651	inframe_deletion	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.239_241delGTT	4.37:g.106848559_106848561delGTT	ENSP00000369323:p.Gly80_Tyr81delinsAsp		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	CCDS34046.1																																																																																				0.399	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		-	106848561	GTT	-	106848559	7	5	450	1	0	1	0	1	0	0	0	0	10592	1261	44	0	304	0	NPNT	4	106848559	In_Frame_Del	DEL	GTT	TCGA-BP-5202-01A-02D-1429-08	27551668	106848559	84305717	14	24561											
SPZ1	84654	broad.mit.edu	37	5	79616434	79616434	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr5:79616434G>A	ENST00000296739.4	+	1	645	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	134					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E134K(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTTAGCCCCAGAGAAAGAAGA	0.368																																																1	Substitution - Missense(1)	kidney(1)											71	64	66					5																	79616434		1818	4081	5899	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.400G>A	5.37:g.79616434G>A	ENSP00000369611:p.Glu134Lys		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983613	0.35036	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.61392	0.11;0.89	1.74	-0.558	0.11796	.	.	.	.	.	T	0.41789	0.1174	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.60886	0.88	T	0.27905	-1.0060	9	0.17369	T	0.5	.	0.6509	0.00826	0.1703:0.2459:0.3349:0.2489	.	134	Q9BXG8	SPZ1_HUMAN	K	134	ENSP00000426530:E134K;ENSP00000369611:E134K	ENSP00000369611:E134K	E	+	1	0	SPZ1	79652190	0.897000	0.30589	0.001000	0.08648	0.028000	0.11728	1.274000	0.33132	-0.155000	0.11098	0.313000	0.20887	GAG		0.368	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		A	79616434	G	A	79616434	3	1	450	1	0	0	0	0	1	0	0	0	15132	943	33	2	402	2	SPZ1	5	79616434	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08		79616434	101298826	15	24562	188	2									
SPZ1	84654	broad.mit.edu;hgsc.bcm.edu	37	5	79616440	79616440	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr5:79616440G>C	ENST00000296739.4	+	1	651	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	136					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E136Q(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		CCCAGAGAAAGAAGACAATGA	0.373																																																1	Substitution - Missense(1)	kidney(1)											77	69	71					5																	79616440		1823	4085	5908	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.406G>C	5.37:g.79616440G>C	ENSP00000369611:p.Glu136Gln		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	4.482	0.089265	0.08632	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.57273	0.41;1.11	1.06	-1.04	0.10068	.	.	.	.	.	T	0.25158	0.0611	N	0.08118	0	0.09310	N	1	P	0.48016	0.904	B	0.39935	0.314	T	0.15578	-1.0432	9	0.26408	T	0.33	.	5.1736	0.15124	0.6129:0.0:0.3871:0.0	.	136	Q9BXG8	SPZ1_HUMAN	Q	136	ENSP00000426530:E136Q;ENSP00000369611:E136Q	ENSP00000369611:E136Q	E	+	1	0	SPZ1	79652196	0.997000	0.39634	0.005000	0.12908	0.012000	0.07955	0.632000	0.24583	-0.460000	0.07003	-0.657000	0.03884	GAA		0.373	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		C	79616440	G	C	79616440	3	2	450	1	0	0	0	0	1	0	0	0	15132	943	33	4	408	4	SPZ1	5	79616440	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08	6	79616440	101298820	16	24563	188	2									
DNAJC30	84277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	73097664	73097664	+	Silent	SNP	G	G	A	rs369098122		TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr7:73097664G>A	ENST00000395176.2	-	1	119	c.90C>T	c.(88-90)agC>agT	p.S30S	WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR|WBSCR22_ENST00000423497.1_5'Flank	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	30						mitochondrion (GO:0005739)		p.S30S(1)		kidney(1)|large_intestine(2)|lung(1)	4						CTAGGCCCAGGCTGGGTGCAG	0.617																																																1	Substitution - coding silent(1)	kidney(1)						G		0,4376		0,0,2188	56	66	63		90	-0.3	0	7		63	2,8566		0,2,4282	no	coding-synonymous	DNAJC30	NM_032317.2		0,2,6470	AA,AG,GG		0.0233,0.0,0.0155		30/227	73097664	2,12942	2188	4284	6472	SO:0001819	synonymous_variant	84277			AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"Heat shock proteins / DNAJ (HSP40)"	16410	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 18"	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.90C>T	7.37:g.73097664G>A			Q9BSG8	Silent	SNP	ENST00000395176.2	37	CCDS5556.1																																																																																				0.617	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2			A	73097664	G	A	73097664	2	1	450	1	0	0	0	0	0	0	0	1	4650	1194	42	2		2	DNAJC30	7	73097664	Silent	SNP	G	TCGA-BP-5202-01A-02D-1429-08		73097664	86040999	17	24564											
LAMB1	3912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107564469	107564469	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr7:107564469C>G	ENST00000222399.6	-	34	5518	c.5288G>C	c.(5287-5289)aGa>aCa	p.R1763T	LAMB1_ENST00000393561.1_Missense_Mutation_p.R1787T	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1763	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.R1763T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCCTTCCAGTCTTGCTAATTC	0.353																																																1	Substitution - Missense(1)	kidney(1)											145	138	140					7																	107564469		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.5288G>C	7.37:g.107564469C>G	ENSP00000222399:p.Arg1763Thr		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	7.867	0.727243	0.15439	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	D;D	0.94417	-3.42;-3.42	5.53	4.64	0.57946	.	.	.	.	.	D	0.85314	0.5668	N	0.08118	0	0.20403	N	0.99991	B;B;B	0.24426	0.002;0.103;0.037	B;B;B	0.26094	0.004;0.066;0.024	T	0.72643	-0.4231	9	0.15066	T	0.55	.	6.9124	0.24342	0.0:0.7551:0.0:0.2449	.	1763;1787;1060	P07942;G3XAI2;Q8TAS6	LAMB1_HUMAN;.;.	T	1787;1763	ENSP00000377191:R1787T;ENSP00000222399:R1763T	ENSP00000222399:R1763T	R	-	2	0	LAMB1	107351705	0.936000	0.31750	0.616000	0.29078	0.833000	0.47200	2.511000	0.45476	2.755000	0.94549	0.650000	0.86243	AGA		0.353	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		G	107564469	C	G	107564469	3	3	450	1	0	0	0	0	1	0	0	0	8612	913	32	4	76	4	LAMB1	7	107564469	Missense_Mutation	SNP	C	TCGA-BP-5202-01A-02D-1429-08	34466805	107564469	51574194	18	24565											
RP1L1	94137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	10470413	10470413	+	Missense_Mutation	SNP	C	C	T	rs374843101		TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr8:10470413C>T	ENST00000382483.3	-	4	1418	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	399					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.G399W(1)|p.G399R(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTGGCTGCCCGCCTCGGCCA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16474	0.0		0.0	False		,,,				2504	0.001															2	Substitution - Missense(2)	lung(1)|kidney(1)						C	ARG/GLY	1,3857		0,1,1928	43	50	48		1195	-0.5	0	8		48	0,8260		0,0,4130	no	missense	RP1L1	NM_178857.5	125	0,1,6058	TT,TC,CC		0.0,0.0259,0.0083	benign	399/2401	10470413	1,12117	1929	4130	6059	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1195G>A	8.37:g.10470413C>T	ENSP00000371923:p.Gly399Arg		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	0.798	-0.756363	0.03019	2.59E-4	0.0	ENSG00000183638	ENST00000382483	T	0.03745	3.82	4.7	-0.477	0.12097	.	1.566900	0.04684	N	0.412864	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.15870	0.014	T	0.41016	-0.9532	10	0.07030	T	0.85	0.1054	1.5023	0.02479	0.3249:0.2719:0.2865:0.1167	.	399	A6NKC6	.	R	399	ENSP00000371923:G399R	ENSP00000371923:G399R	G	-	1	0	RP1L1	10507823	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.144000	0.31565	-0.159000	0.11021	-0.258000	0.10820	GGG		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			T	10470413	C	T	10470413	3	4	450	1	0	0	0	0	1	0	0	0	13539	652	23	1	6011	1	RP1L1	8	10470413	Missense_Mutation	SNP	C	TCGA-BP-5202-01A-02D-1429-08		10470413	135893609	19	24566											
CSPP1	10565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	68107615	68107615	+	IGR	SNP	A	A	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr8:68107615A>G	ENST00000262215.3	-	0	7225				ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_Splice_Site|CSPP1_ENST00000262210.5_Splice_Site|CSPP1_ENST00000412460.1_Splice_Site	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.?(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGCCTCCTGTAGATGATGAGA	0.522																																																1	Unknown(1)	kidney(1)											260	253	256					8																	68107615		2114	4232	6346	SO:0001628	intergenic_variant	79848			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626		8.37:g.68107615A>G			Q9NV46|Q9UFV2|Q9UNL0	Splice_Site	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724248	0.68959	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8054	0.69952	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSPP1	68270169	0.997000	0.39634	0.811000	0.32455	0.936000	0.57629	4.096000	0.57734	2.218000	0.71995	0.528000	0.53228	.		0.522	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		G	68107615	A	G	68107615	1	3	450	0	1	0	0	0	0	0	0	0	3964	434	15	3		3	CSPP1	8	68107615	IGR	SNP	A	TCGA-BP-5202-01A-02D-1429-08	57637202	68107615	78256407	20	24567											
OR13C5	138799	broad.mit.edu;hgsc.bcm.edu	37	9	107361334	107361334	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr9:107361334C>G	ENST00000374779.2	-	1	454	c.361G>C	c.(361-363)Gac>Cac	p.D121H		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D121H(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ACATAGCGGTCAAAGGCCATC	0.517																																																1	Substitution - Missense(1)	kidney(1)											76	119	105					9																	107361334		2203	4300	6503	SO:0001583	missense	138799				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.361G>C	9.37:g.107361334C>G	ENSP00000363911:p.Asp121His		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341019	0.60963	.	.	ENSG00000255800	ENST00000374779	T	0.18338	2.22	4.03	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39020	U	0.001490	T	0.53110	0.1776	H	0.95611	3.695	0.41478	D	0.988146	D	0.89917	1.0	D	0.85130	0.997	T	0.69224	-0.5201	10	0.87932	D	0	.	13.7391	0.62836	0.0:1.0:0.0:0.0	.	121	Q8NGS8	O13C5_HUMAN	H	121	ENSP00000363911:D121H	ENSP00000363911:D121H	D	-	1	0	OR13C5	106401155	1.000000	0.71417	0.053000	0.19242	0.553000	0.35397	7.452000	0.80683	2.080000	0.62538	0.531000	0.56144	GAC		0.517	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		G	107361334	C	G	107361334	3	3	450	1	0	0	0	0	1	0	0	0	10939	826	29	4	597	4	OR13C5	9	107361334	Missense_Mutation	SNP	C	TCGA-BP-5202-01A-02D-1429-08		107361334	33852097	21	24568											
ASTN2	23245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	119976970	119976970	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr9:119976970A>G	ENST00000313400.4	-	3	782	c.682T>C	c.(682-684)Tac>Cac	p.Y228H	ASTN2_ENST00000373996.3_Missense_Mutation_p.Y228H|ASTN2_ENST00000361209.2_Missense_Mutation_p.Y228H|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	228					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.Y228H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGCTGGGCGTACAGCGCCACG	0.602																																																1	Substitution - Missense(1)	kidney(1)											43	42	43					9																	119976970		2203	4300	6503	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.682T>C	9.37:g.119976970A>G	ENSP00000314038:p.Tyr228His		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	A	17.94	3.510635	0.64522	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.15017	2.56;2.56;2.46	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000004	T	0.27933	0.0688	N	0.24115	0.695	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.992	T	0.04017	-1.0984	9	.	.	.	-12.2761	15.3087	0.74014	1.0:0.0:0.0:0.0	.	228;228;228	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	H	228	ENSP00000314038:Y228H;ENSP00000363108:Y228H;ENSP00000354504:Y228H	.	Y	-	1	0	ASTN2	119016791	1.000000	0.71417	0.694000	0.30210	0.615000	0.37417	9.296000	0.96104	2.101000	0.63845	0.533000	0.62120	TAC		0.602	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		G	119976970	A	G	119976970	3	3	450	1	0	0	0	0	1	0	0	0	1065	391	14	3	3496	3	ASTN2	9	119976970	Missense_Mutation	SNP	A	TCGA-BP-5202-01A-02D-1429-08	12615636	119976970	21236461	22	24569											
FGFR2	2263	broad.mit.edu	37	10	123353298	123353298	+	Missense_Mutation	SNP	C	C	T	rs143978938	byFrequency	TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr10:123353298C>T	ENST00000358487.5	-	2	306	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Missense_Mutation_p.V12M|FGFR2_ENST00000457416.2_Missense_Mutation_p.V12M|FGFR2_ENST00000369060.4_Missense_Mutation_p.V12M|FGFR2_ENST00000356226.4_Missense_Mutation_p.V12M|FGFR2_ENST00000369059.1_Missense_Mutation_p.V12M|FGFR2_ENST00000346997.2_Missense_Mutation_p.V12M|FGFR2_ENST00000351936.6_Missense_Mutation_p.V12M|FGFR2_ENST00000369056.1_Missense_Mutation_p.V12M|FGFR2_ENST00000369061.4_Missense_Mutation_p.V12M|FGFR2_ENST00000359354.2_Missense_Mutation_p.V12M|FGFR2_ENST00000357555.5_Missense_Mutation_p.V12M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	12					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.V12M(4)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ATGGTGACCACGACCAGGCAG	0.502		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				C|||	6	0.00119808	0.0038	0.0014	5008	,	,		19466	0.0		0.0	False		,,,				2504	0.0						Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	4	Substitution - Missense(4)	kidney(4)						C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	6,4400	11.4+/-27.6	0,6,2197	165	131	143		34,34,34,34,34,34,34,34,34	0.6	0.1	10	dbSNP_134	143	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	21,21,21,21,21,21,21,21,21	0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538	benign,benign,benign,benign,benign,benign,benign,benign,benign	12/822,12/770,12/710,12/708,12/707,12/706,12/705,12/681,12/823	123353298	7,12999	2203	4300	6503	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.34G>A	10.37:g.123353298C>T	ENSP00000351276:p.Val12Met		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	11.95	1.792491	0.31685	0.001362	1.16E-4	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	D;T;T;T;T;T;T;T;T;D;T;T;D;T	0.82711	-1.64;-1.35;-1.26;-1.35;-1.34;-1.37;-1.27;-1.26;-1.27;-1.58;-1.26;-1.26;-1.6;-0.75	5.36	0.594	0.17485	.	1.246490	0.05546	N	0.566700	T	0.60483	0.2272	N	0.24115	0.695	0.09310	N	1	B;B;P;B;B;B;B;B;B;B;B;B	0.36010	0.026;0.106;0.532;0.07;0.002;0.013;0.013;0.006;0.002;0.006;0.0;0.006	B;B;B;B;B;B;B;B;B;B;B;B	0.23716	0.011;0.007;0.048;0.029;0.003;0.004;0.006;0.01;0.004;0.007;0.004;0.006	T	0.56601	-0.7952	10	0.49607	T	0.09	.	5.5093	0.16872	0.27:0.5441:0.112:0.0739	.	31;31;12;12;31;12;12;12;12;31;12;12	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	M	12	ENSP00000350166:V12M;ENSP00000358057:V12M;ENSP00000351276:V12M;ENSP00000348559:V12M;ENSP00000358056:V12M;ENSP00000358055:V12M;ENSP00000263451:V12M;ENSP00000410294:V12M;ENSP00000309878:V12M;ENSP00000353262:V12M;ENSP00000358052:V12M;ENSP00000358054:V12M;ENSP00000337665:V12M;ENSP00000352309:V12M	ENSP00000337665:V12M	V	-	1	0	FGFR2	123343288	0.983000	0.35010	0.131000	0.22000	0.987000	0.75469	0.725000	0.25970	0.203000	0.20529	0.650000	0.86243	GTG		0.502	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		T	123353298	C	T	123353298	3	4	450	1	0	0	0	0	1	0	0	0	5868	536	19	1	2755	1	FGFR2	10	123353298	Missense_Mutation	SNP	C	TCGA-BP-5202-01A-02D-1429-08		123353298	12181449	23	24570											
CCDC87	55231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66359599	66359599	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr11:66359599C>A	ENST00000333861.3	-	1	955	c.888G>T	c.(886-888)agG>agT	p.R296S	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	296					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.R296S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGGGGGAAGCCCTGCTGGTGG	0.612																																																1	Substitution - Missense(1)	kidney(1)											47	51	50					11																	66359599		2200	4295	6495	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.888G>T	11.37:g.66359599C>A	ENSP00000328487:p.Arg296Ser		Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	1.095	-0.662766	0.03454	.	.	ENSG00000182791	ENST00000333861	T	0.32753	1.44	4.82	-1.51	0.08664	.	1.974720	0.02582	N	0.098999	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.13872	-1.0493	10	0.12103	T	0.63	.	4.7633	0.13118	0.0:0.3732:0.1619:0.4649	.	296	Q9NVE4	CCD87_HUMAN	S	296	ENSP00000328487:R296S	ENSP00000328487:R296S	R	-	3	2	CCDC87	66116175	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.316000	0.08071	-0.145000	0.11294	0.514000	0.50259	AGG		0.612	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		A	66359599	C	A	66359599	3	1	450	1	0	0	0	0	1	0	0	0	2864	622	22	4	1665	4	CCDC87	11	66359599	Missense_Mutation	SNP	C	TCGA-BP-5202-01A-02D-1429-08		66359599	68646917	24	24571											
BIN2	51411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51696509	51696509	+	Silent	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr12:51696509G>A	ENST00000267012.4	-	4	334	c.273C>T	c.(271-273)agC>agT	p.S91S	BIN2_ENST00000604560.1_Silent_p.S64S|BIN2_ENST00000452142.2_Silent_p.S91S|BIN2_ENST00000544402.1_Silent_p.S65S	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	91	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.S91S(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CGTCCCACTCGCTGCTGTAGA	0.468																																																1	Substitution - coding silent(1)	kidney(1)											226	208	215					12																	51696509		2203	4300	6503	SO:0001819	synonymous_variant	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.273C>T	12.37:g.51696509G>A			Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	ENST00000267012.4	37	CCDS8811.1																																																																																				0.468	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			A	51696509	G	A	51696509	2	1	450	1	0	0	0	0	0	0	0	1	1433	1078	38	1		1	BIN2	12	51696509	Silent	SNP	G	TCGA-BP-5202-01A-02D-1429-08		51696509	82155386	25	24572											
MARS	4141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57908819	57908819	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr12:57908819A>G	ENST00000262027.5	+	17	2316	c.2182A>G	c.(2182-2184)Att>Gtt	p.I728V	RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.I494V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	728					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.I728V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGGAAGCGGATTAAAGGCAG	0.517																																																1	Substitution - Missense(1)	kidney(1)											72	66	68					12																	57908819		2203	4300	6503	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2182A>G	12.37:g.57908819A>G	ENSP00000262027:p.Ile728Val		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597541	0.28445	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.44083	0.93;0.93	5.32	4.18	0.49190	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.051796	0.64402	D	0.000001	T	0.26268	0.0641	N	0.20610	0.595	0.58432	D	0.999993	B;B	0.21520	0.021;0.057	B;B	0.24006	0.007;0.05	T	0.07177	-1.0786	10	0.22706	T	0.39	-13.4297	9.9731	0.41765	0.9181:0.0:0.0819:0.0	.	494;728	A6NC17;P56192	.;SYMC_HUMAN	V	728;494	ENSP00000262027:I728V;ENSP00000314653:I494V	ENSP00000262027:I728V	I	+	1	0	MARS	56195086	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.424000	0.73366	2.140000	0.66376	0.482000	0.46254	ATT		0.517	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		G	57908819	A	G	57908819	3	3	450	1	0	0	0	0	1	0	0	0	9318	333	12	3	2248	3	MARS	12	57908819	Missense_Mutation	SNP	A	TCGA-BP-5202-01A-02D-1429-08	6212310	57908819	75943076	26	24573											
CAND1	55832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	67698394	67698394	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr12:67698394A>G	ENST00000545606.1	+	9	1740	c.1303A>G	c.(1303-1305)Att>Gtt	p.I435V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	435					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.I435V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGTTCCCAACATTGTTAAAGC	0.378																																																1	Substitution - Missense(1)	kidney(1)											102	100	101					12																	67698394		2203	4300	6503	SO:0001583	missense	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1303A>G	12.37:g.67698394A>G	ENSP00000442318:p.Ile435Val		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	A	8.389	0.839205	0.16891	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	T;T	0.67523	-0.27;-0.27	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	L	0.46567	1.45	0.80722	D	1	B;B	0.20671	0.047;0.009	B;B	0.19391	0.025;0.007	T	0.55976	-0.8055	9	.	.	.	-17.0821	16.4052	0.83662	1.0:0.0:0.0:0.0	.	435;435	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	V	435;435;277;143	ENSP00000442318:I435V;ENSP00000444089:I143V	.	I	+	1	0	CAND1	65984661	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.307000	0.96226	2.279000	0.76181	0.402000	0.26972	ATT		0.378	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		G	67698394	A	G	67698394	3	3	450	1	0	0	0	0	1	0	0	0	2617	217	8	3	1337	3	CAND1	12	67698394	Missense_Mutation	SNP	A	TCGA-BP-5202-01A-02D-1429-08	9789575	67698394	66153501	27	24574											
CIT	11113	hgsc.bcm.edu;ucsc.edu	37	12	120173115	120173115	+	Missense_Mutation	SNP	G	G	T	rs79892909	byFrequency	TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr12:120173115G>T	ENST00000261833.7	-	24	2932	c.2880C>A	c.(2878-2880)aaC>aaA	p.N960K	CIT_ENST00000392521.2_Missense_Mutation_p.N1002K|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	960					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.N1002K(1)|p.N960K(1)|p.N1003K(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAGTTCAGCGTTGTCCTCGG	0.468																																																3	Substitution - Missense(3)	kidney(3)											260	230	241					12																	120173115		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2880C>A	12.37:g.120173115G>T	ENSP00000261833:p.Asn960Lys		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.45|14.45	2.539937|2.539937	0.45176|0.45176	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.63913|.	-0.06;-0.07|.	5.06|5.06	-6.0|-6.0	0.02206|0.02206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48960|0.48960	0.1529|0.1529	L|L	0.27053|0.27053	0.805|0.805	0.40763|0.40763	D|D	0.983028|0.983028	D;D;D|.	0.89917|.	1.0;0.997;0.998|.	D;D;D|.	0.85130|.	0.997;0.989;0.995|.	T|T	0.46345|0.46345	-0.9198|-0.9198	10|5	0.15066|.	T|.	0.55|.	.|.	17.7102|17.7102	0.88319|0.88319	0.7088:0.0:0.2912:0.0|0.7088:0.0:0.2912:0.0	.|.	1002;960;493|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	K|K	1002;960|588	ENSP00000376306:N1002K;ENSP00000261833:N960K|.	ENSP00000261833:N960K|.	N|T	-|-	3|2	2|0	CIT|CIT	118657498|118657498	0.001000|0.001000	0.12720|0.12720	0.777000|0.777000	0.31699|0.31699	0.684000|0.684000	0.39900|0.39900	-1.312000|-1.312000	0.02720|0.02720	-1.344000|-1.344000	0.02216|0.02216	-2.136000|-2.136000	0.00340|0.00340	AAC|ACG		0.468	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		T	120173115	G	T	120173115	3	4	450	1	0	0	0	0	1	0	0	0	3440	1136	40	4	3299	4	CIT	12	120173115	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08	52474721	120173115	13678780	28	24575											
PLEKHG3	26030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	65208079	65208079	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr14:65208079G>A	ENST00000394691.1	+	16	1991	c.1844G>A	c.(1843-1845)cGg>cAg	p.R615Q	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R120Q|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R559Q|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R148Q			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	615							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R559Q(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCTTCTCTCGGCGGAGCAGC	0.662																																																1	Substitution - Missense(1)	kidney(1)											45	48	47					14																	65208079		2203	4300	6503	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1844G>A	14.37:g.65208079G>A	ENSP00000378183:p.Arg615Gln		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37		.	.	.	.	.	.	.	.	.	.	G	19.65	3.866424	0.72065	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000003	D	0.93213	0.7838	M	0.75264	2.295	0.40231	D	0.977847	D;D;P;P	0.89917	1.0;1.0;0.775;0.856	D;D;B;B	0.83275	0.996;0.996;0.116;0.232	D	0.93070	0.6482	10	0.46703	T	0.11	.	18.1404	0.89637	0.0:0.0:1.0:0.0	.	148;120;615;559	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	Q	559;615;148;120	ENSP00000247226:R559Q;ENSP00000378183:R615Q;ENSP00000450945:R148Q;ENSP00000450973:R120Q	ENSP00000247226:R559Q	R	+	2	0	PLEKHG3	64277832	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	3.999000	0.57031	2.595000	0.87683	0.655000	0.94253	CGG		0.662	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		A	65208079	G	A	65208079	3	1	450	1	0	0	0	0	1	0	0	0	12072	1116	39	1	1726	1	PLEKHG3	14	65208079	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08		65208079	42141461	29	24576											
CYP19A1	1588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51520122	51520122	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr15:51520122C>G	ENST00000396402.1	-	4	458	c.305G>C	c.(304-306)aGt>aCt	p.S102T	CYP19A1_ENST00000260433.2_Missense_Mutation_p.S102T|CYP19A1_ENST00000557858.1_Missense_Mutation_p.S102T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.S102T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.S102T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.S102T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	102					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.S102T(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GTGGAACATACTTGAGGACCT	0.428																																					Melanoma(142;1016 1807 39614 48966 51721)											1	Substitution - Missense(1)	kidney(1)											109	92	98					15																	51520122		2196	4293	6489	SO:0001583	missense	1588			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.305G>C	15.37:g.51520122C>G	ENSP00000379683:p.Ser102Thr		Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742788	0.69418	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.81	4.89	0.63831	.	0.092688	0.85682	D	0.000000	T	0.78020	0.4218	L	0.55481	1.735	0.45129	D	0.998147	D;B	0.71674	0.998;0.012	D;B	0.79784	0.993;0.022	T	0.79339	-0.1844	10	0.54805	T	0.06	-9.1297	15.3069	0.73998	0.0:0.7351:0.2649:0.0	.	102;102	Q8IYJ7;P11511	.;CP19A_HUMAN	T	102	ENSP00000379683:S102T;ENSP00000260433:S102T;ENSP00000379685:S102T;ENSP00000390614:S102T;ENSP00000383930:S102T;ENSP00000391139:S102T;ENSP00000384389:S102T	ENSP00000260433:S102T	S	-	2	0	CYP19A1	49307414	0.991000	0.36638	0.327000	0.25402	0.954000	0.61252	3.281000	0.51685	1.447000	0.47661	0.655000	0.94253	AGT		0.428	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			G	51520122	C	G	51520122	3	3	450	1	0	0	0	0	1	0	0	0	4150	565	20	4	1234	4	CYP19A1	15	51520122	Missense_Mutation	SNP	C	TCGA-BP-5202-01A-02D-1429-08		51520122	51011270	30	24577											
IGF1R	3480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	99482525	99482525	+	Silent	SNP	C	C	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr15:99482525C>T	ENST00000268035.6	+	18	4004	c.3393C>T	c.(3391-3393)ttC>ttT	p.F1131F	IGF1R_ENST00000558762.1_Silent_p.F1130F	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.F1131F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CCAATAAGTTCGTCCACAGAG	0.502																																																1	Substitution - coding silent(1)	kidney(1)											166	154	158					15																	99482525		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3393C>T	15.37:g.99482525C>T			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																				0.502	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		T	99482525	C	T	99482525	2	4	450	1	0	0	0	0	0	0	0	1	7573	883	31	1		1	IGF1R	15	99482525	Silent	SNP	C	TCGA-BP-5202-01A-02D-1429-08	47962403	99482525	3048867	31	24578											
SRL	6345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4245640	4245640	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr16:4245640C>T	ENST00000399609.3	-	5	536	c.524G>A	c.(523-525)gGc>gAc	p.G175D	SRL_ENST00000537996.1_Missense_Mutation_p.G133D	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	634	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G175D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AACCTCAATGCCAATCAGCTT	0.507																																																1	Substitution - Missense(1)	kidney(1)											117	116	116					16																	4245640		1893	4122	6015	SO:0001583	missense	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.524G>A	16.37:g.4245640C>T	ENSP00000382518:p.Gly175Asp			Missense_Mutation	SNP	ENST00000399609.3	37	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135681	0.94517	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.96685	-4.09;-4.09	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.98485	0.9495	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99087	1.0839	10	0.72032	D	0.01	-18.6276	19.0659	0.93110	0.0:1.0:0.0:0.0	.	175	Q86TD4-2	.	D	175;633;133	ENSP00000382518:G175D;ENSP00000440350:G133D	ENSP00000333285:G633D	G	-	2	0	SRL	4185641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.797000	0.96272	0.655000	0.94253	GGC		0.507	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		T	4245640	C	T	4245640	3	4	450	1	0	0	0	0	1	0	0	0	15155	739	26	2	905	2	SRL	16	4245640	Missense_Mutation	SNP	C	TCGA-BP-5202-01A-02D-1429-08		4245640	86109113	32	24579											
ZNF276	92822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89793740	89793740	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr16:89793740G>C	ENST00000443381.2	+	5	1157	c.1060G>C	c.(1060-1062)Gac>Cac	p.D354H	ZNF276_ENST00000446326.2_Intron|ZNF276_ENST00000289816.5_Missense_Mutation_p.D279H|ZNF276_ENST00000568064.1_Intron	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D279H(1)|p.D354H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCGGGTAAAAGACGAGTTCAG	0.473																																																2	Substitution - Missense(2)	kidney(2)											177	160	166					16																	89793740		2198	4300	6498	SO:0001583	missense	92822			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1060G>C	16.37:g.89793740G>C	ENSP00000415836:p.Asp354His		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416386	0.83449	.	.	ENSG00000158805	ENST00000289816;ENST00000443381	T;T	0.06933	3.24;3.28	5.54	5.54	0.83059	.	0.103551	0.64402	D	0.000006	T	0.21022	0.0506	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.956	T	0.00455	-1.1729	10	0.66056	D	0.02	-39.6277	18.4672	0.90760	0.0:0.0:1.0:0.0	.	192;354	B4DIT3;Q8N554	.;ZN276_HUMAN	H	279;354	ENSP00000289816:D279H;ENSP00000415836:D354H	ENSP00000289816:D279H	D	+	1	0	ZNF276	88321241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.444000	0.73452	2.596000	0.87737	0.655000	0.94253	GAC		0.473	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		C	89793740	G	C	89793740	3	2	450	1	0	0	0	0	1	0	0	0	17816	942	33	4	1078	4	ZNF276	16	89793740	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08	85548100	89793740	561013	33	24580											
ACAP1	9744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7246741	7246741	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr17:7246741G>A	ENST00000158762.3	+	6	594	c.388G>A	c.(388-390)Ggg>Agg	p.G130R	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	130	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G130R(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TTTCTGGCGGGGGGCTGAGAG	0.647																																																1	Substitution - Missense(1)	kidney(1)											40	50	46					17																	7246741		2200	4299	6499	SO:0001583	missense	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.388G>A	17.37:g.7246741G>A	ENSP00000158762:p.Gly130Arg		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195775	0.58126	.	.	ENSG00000072818	ENST00000158762	T	0.03831	3.79	5.24	5.24	0.73138	Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.164239	0.53938	D	0.000053	T	0.07188	0.0182	L	0.47716	1.5	0.80722	D	1	B	0.22851	0.076	B	0.19148	0.024	T	0.14811	-1.0459	10	0.56958	D	0.05	.	16.6685	0.85259	0.0:0.0:1.0:0.0	.	130	Q15027	ACAP1_HUMAN	R	130	ENSP00000158762:G130R	ENSP00000158762:G130R	G	+	1	0	ACAP1	7187465	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.895000	0.56258	2.618000	0.88619	0.462000	0.41574	GGG		0.647	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		A	7246741	G	A	7246741	3	1	450	1	0	0	0	0	1	0	0	0	118	1232	43	2	410	2	ACAP1	17	7246741	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08		7246741	73948469	34	24581											
ACACA	31	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35600351	35600351	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr17:35600351T>C	ENST00000394406.2	-	22	2946	c.2756A>G	c.(2755-2757)aAg>aGg	p.K919R	ACACA_ENST00000335166.5_Missense_Mutation_p.K841R|ACACA_ENST00000360679.3_Missense_Mutation_p.K861R|ACACA_ENST00000353139.5_Missense_Mutation_p.K956R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	919					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.K956R(1)|p.K861R(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CATTTCCTTCTTGATAGACTT	0.448																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											2	Substitution - Missense(2)	kidney(2)											218	207	211					17																	35600351		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2756A>G	17.37:g.35600351T>C	ENSP00000377928:p.Lys919Arg		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	6.454	0.451985	0.12283	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.6	4.6	0.57074	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	N	0.00465	-1.465	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.15052	0.012;0.002;0.001	T	0.36456	-0.9747	10	0.02654	T	1	-19.7424	13.6083	0.62061	0.0:0.0:0.0:1.0	.	956;919;861	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	R	956;861;919;943;841	ENSP00000344789:K956R;ENSP00000353898:K861R;ENSP00000377928:K919R;ENSP00000335323:K841R	ENSP00000335323:K841R	K	-	2	0	ACACA	32674464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.340000	0.52143	2.063000	0.61619	0.460000	0.39030	AAG		0.448	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		C	35600351	T	C	35600351	3	2	450	1	0	0	0	0	1	0	0	0	106	1609	56	3	4424	3	ACACA	17	35600351	Missense_Mutation	SNP	T	TCGA-BP-5202-01A-02D-1429-08	28353610	35600351	45594859	35	24582											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9069219	9069219	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr19:9069219G>A	ENST00000397910.4	-	3	18430	c.18227C>T	c.(18226-18228)cCt>cTt	p.P6076L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6078	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P6076L(2)|p.P1709L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCAGTTCAGGAGTCAGAGG	0.483																																																3	Substitution - Missense(3)	kidney(3)											83	90	88					19																	9069219		2135	4242	6377	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18227C>T	19.37:g.9069219G>A	ENSP00000381008:p.Pro6076Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.974	-0.211791	0.06140	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	1.11	1.11	0.20524	.	.	.	.	.	T	0.05914	0.0154	L	0.40543	1.245	.	.	.	D	0.59357	0.985	P	0.51974	0.686	T	0.28618	-1.0038	8	0.87932	D	0	.	5.6291	0.17499	0.0:0.0:1.0:0.0	.	6076	B5ME49	.	L	6076	ENSP00000381008:P6076L	ENSP00000381008:P6076L	P	-	2	0	MUC16	8930219	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	0.326000	0.19646	0.920000	0.36970	0.163000	0.16589	CCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9069219	G	A	9069219	3	1	450	1	0	0	0	0	1	0	0	0	9975	1000	35	2	25624	2	MUC16	19	9069219	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08		9069219	50059764	36	24583											
KRI1	65095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10668296	10668296	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr19:10668296C>G	ENST00000312962.6	-	16	1586	c.1567G>C	c.(1567-1569)Gac>Cac	p.D523H	KRI1_ENST00000361821.5_Missense_Mutation_p.D519H	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	517						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.D523H(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGCAGGTCGTCGATGATGTCC	0.617																																																1	Substitution - Missense(1)	kidney(1)											207	157	174					19																	10668296		2203	4300	6503	SO:0001583	missense	65095				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1567G>C	19.37:g.10668296C>G	ENSP00000320917:p.Asp523His		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211287	0.79240	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000539027	T;T;T	0.47869	3.13;2.96;0.83	5.22	5.22	0.72569	Kri1-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	M	0.73962	2.25	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.73241	-0.4045	10	0.72032	D	0.01	-41.7843	17.5243	0.87795	0.0:1.0:0.0:0.0	.	523;519	Q8N9T8;D3YTE0	KRI1_HUMAN;.	H	523;519;172	ENSP00000320917:D523H;ENSP00000355366:D519H;ENSP00000445789:D172H	ENSP00000320917:D523H	D	-	1	0	KRI1	10529296	1.000000	0.71417	0.536000	0.28039	0.888000	0.51559	6.343000	0.72986	2.436000	0.82500	0.563000	0.77884	GAC		0.617	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		G	10668296	C	G	10668296	3	3	450	1	0	0	0	0	1	0	0	0	8446	884	31	4	578	4	KRI1	19	10668296	Missense_Mutation	SNP	C	TCGA-BP-5202-01A-02D-1429-08	1599077	10668296	48460687	37	24584											
USP16	10600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	30415852	30415852	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr21:30415852G>T	ENST00000334352.4	+	14	1519	c.1288G>T	c.(1288-1290)Gat>Tat	p.D430Y	USP16_ENST00000399976.2_Missense_Mutation_p.D430Y|USP16_ENST00000399975.3_Missense_Mutation_p.D429Y|USP16_ENST00000535828.1_Missense_Mutation_p.D59Y	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.D430Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGAGAGAAGTGATATTCCTTC	0.348																																					Melanoma(92;625 1444 27493 34101 44971)											1	Substitution - Missense(1)	kidney(1)											100	93	95					21																	30415852		2203	4299	6502	SO:0001583	missense	10600			AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"Ubiquitin-specific peptidases"	12614	protein-coding gene	gene with protein product		604735	"ubiquitin specific protease 16"			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1288G>T	21.37:g.30415852G>T	ENSP00000334808:p.Asp430Tyr			Missense_Mutation	SNP	ENST00000334352.4	37	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100216	0.37048	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.39406	3.26;3.28;3.28;1.08	5.19	3.18	0.36537	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.362411	0.33419	N	0.004923	T	0.43500	0.1250	N	0.22421	0.69	0.50039	D	0.999845	D;D;D;D	0.63046	0.979;0.964;0.992;0.987	P;P;P;P	0.60682	0.771;0.621;0.878;0.87	T	0.41716	-0.9493	10	0.62326	D	0.03	.	10.4454	0.44490	0.0796:0.0:0.7825:0.1379	.	59;415;429;430	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	Y	429;430;430;59	ENSP00000382857:D429Y;ENSP00000382858:D430Y;ENSP00000334808:D430Y;ENSP00000442855:D59Y	ENSP00000334808:D430Y	D	+	1	0	USP16	29337723	1.000000	0.71417	0.430000	0.26722	0.015000	0.08874	4.639000	0.61361	1.366000	0.46076	0.591000	0.81541	GAT		0.348	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			T	30415852	G	T	30415852	3	4	450	1	0	0	0	0	1	0	0	0	17052	1290	45	4	1334	4	USP16	21	30415852	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08		30415852	17714043	38	24585											
FOXRED2	80020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	36900193	36900193	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr22:36900193C>T	ENST00000397224.4	-	4	1094	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	FOXRED2_ENST00000216187.6_Missense_Mutation_p.R334Q|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R334Q	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	334					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)	p.R334Q(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCGGATTACCCGGTCATAGGG	0.547																																																1	Substitution - Missense(1)	kidney(1)											72	68	69					22																	36900193		2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1001G>A	22.37:g.36900193C>T	ENSP00000380401:p.Arg334Gln		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295705	0.95574	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.15952	2.38;2.38;2.38	5.01	5.01	0.66863	.	0.118592	0.64402	D	0.000015	T	0.35653	0.0939	M	0.87900	2.915	0.80722	D	1	D	0.63880	0.993	P	0.47981	0.563	T	0.42582	-0.9443	10	0.45353	T	0.12	-31.5448	18.5148	0.90931	0.0:1.0:0.0:0.0	.	334	Q8IWF2	FXRD2_HUMAN	Q	334	ENSP00000380401:R334Q;ENSP00000216187:R334Q;ENSP00000380400:R334Q	ENSP00000216187:R334Q	R	-	2	0	FOXRED2	35230139	1.000000	0.71417	0.990000	0.47175	0.925000	0.55904	6.768000	0.74980	2.606000	0.88127	0.655000	0.94253	CGG		0.547	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		T	36900193	C	T	36900193	3	4	450	1	0	0	0	0	1	0	0	0	6036	652	23	1	1077	1	FOXRED2	22	36900193	Missense_Mutation	SNP	C	TCGA-BP-5202-01A-02D-1429-08		36900193	14404373	39	24586											
HDAC10	83933	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50685358	50685358	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr22:50685358G>A	ENST00000216271.5	-	15	1812	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V	TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000349505.4_Missense_Mutation_p.A467V|TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A437V	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	487					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)	p.A487V(1)		endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGCTGCTGCAGCAGAGGC	0.577																																																1	Substitution - Missense(1)	kidney(1)											35	33	34					22																	50685358		2203	4300	6503	SO:0001583	missense	83933			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1460C>T	22.37:g.50685358G>A	ENSP00000216271:p.Ala487Val		Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	G	3.117	-0.181450	0.06340	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.31510	1.49;1.49;1.49	5.18	-7.98	0.01135	.	1.125660	0.06460	N	0.729282	T	0.14917	0.0360	N	0.21448	0.665	0.09310	N	0.999998	B;B;B;B	0.15141	0.002;0.001;0.012;0.001	B;B;B;B	0.14023	0.004;0.002;0.01;0.002	T	0.25222	-1.0138	10	0.30854	T	0.27	3.6715	4.7883	0.13236	0.6162:0.1084:0.1658:0.1096	.	467;437;487;487	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	V	487;437;467	ENSP00000216271:A487V;ENSP00000397542:A437V;ENSP00000343540:A467V	ENSP00000216271:A487V	A	-	2	0	HDAC10	49027485	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.693000	0.05121	-1.089000	0.03073	-0.150000	0.13652	GCA		0.577	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		A	50685358	G	A	50685358	3	1	450	1	0	0	0	0	1	0	0	0	7007	1319	46	2	573	2	HDAC10	22	50685358	Missense_Mutation	SNP	G	TCGA-BP-5202-01A-02D-1429-08	13785165	50685358	619208	40	24587											
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)											5	Unknown(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)								1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC			Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37	CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	450	1	0	1	0	1	0	0	0	0	10729	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-BP-5202-01A-02D-1429-08		51239296	104031264	41	24588											
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53253992	53253992	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chrX:53253992delG	ENST00000375401.3	-	1	612	c.80delC	c.(79-81)cctfs	p.P27fs	KDM5C_ENST00000452825.3_Frame_Shift_Del_p.P27fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.P27fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.P27fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.P27fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	27	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GTAGCCAAGAGGGTCTCGGAA	0.667			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													46	40	42					X																	53253992		2203	4300	6503	SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.80delC	X.37:g.53253992delG	ENSP00000364550:p.Pro27fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.667	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		-	53253992	G	-	53253992	7	5	450	1	0	1	0	1	0	0	0	0	8137	1000	35	0	4804	0	KDM5C	23	53253992	Frame_Shift_Del	DEL	G	TCGA-BP-5202-01A-02D-1429-08	2014696	53253992	102016568	42	24589											
DNAJC16	23341	hgsc.bcm.edu	37	1	15894410	15894410	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:15894410G>A	ENST00000375847.3	+	15	2251	c.2087G>A	c.(2086-2088)gGt>gAt	p.G696D	RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Intron|DNAJC16_ENST00000483270.1_3'UTR	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	696					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GACTACACTGGTTATGTACTG	0.443																																																0													148	134	139					1																	15894410		2203	4300	6503	SO:0001583	missense	23341			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.2087G>A	chr1.hg19:g.15894410G>A	ENSP00000365007:p.Gly696Asp		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	hg19	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059726	0.93846	.	.	ENSG00000116138	ENST00000375847	D	0.94417	-3.42	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.97173	0.9076	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97352	0.9964	10	0.87932	D	0	-20.3895	18.8118	0.92061	0.0:0.0:1.0:0.0	.	696	Q9Y2G8	DJC16_HUMAN	D	696	ENSP00000365007:G696D	ENSP00000365007:G696D	G	+	2	0	DNAJC16	15766997	1.000000	0.71417	0.501000	0.27601	0.987000	0.75469	9.238000	0.95380	2.790000	0.95986	0.655000	0.94253	GGT		0.443	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		A	15894410	G	A	15894410	3	1	451	1	0	0	0	0	1	0	0	0	4637	1261	44	2	2141	2	DNAJC16	1	15894410	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08		15894410	233356211	1	24590											
DNAJC16	23341	hgsc.bcm.edu	37	1	15894493	15894493	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:15894493delG	ENST00000375847.3	+	15	2334	c.2170delG	c.(2170-2172)gggfs	p.G724fs	RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Intron|DNAJC16_ENST00000483270.1_3'UTR	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	724					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGAAGCCATAGGGTCGTGCAG	0.512																																																0													124	103	110					1																	15894493		2203	4300	6503	SO:0001589	frameshift_variant	23341			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.2170delG	chr1.hg19:g.15894493delG	ENSP00000365007:p.Gly724fs		Q68D57|Q86X32|Q8N5P4	Frame_Shift_Del	DEL	ENST00000375847.3	hg19	CCDS30606.1																																																																																				0.512	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		-	15894493	G	-	15894493	7	5	451	1	0	1	0	1	0	0	0	0	4637	1000	35	0	2224	0	DNAJC16	1	15894493	Frame_Shift_Del	DEL	G	TCGA-BQ-5875-01A-11D-1589-08	83	15894493	233356128	2	24591											
BAI2	576	hgsc.bcm.edu	37	1	32203282	32203282	+	Silent	SNP	G	G	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:32203282G>A	ENST00000373658.3	-	19	3188	c.2847C>T	c.(2845-2847)acC>acT	p.T949T	BAI2_ENST00000440175.2_Silent_p.T591T|BAI2_ENST00000398542.1_Silent_p.T882T|BAI2_ENST00000373655.2_Silent_p.T949T|BAI2_ENST00000257070.4_Silent_p.T949T|BAI2_ENST00000398547.1_Silent_p.T882T|BAI2_ENST00000398538.1_Silent_p.T937T|BAI2_ENST00000527361.1_Silent_p.T949T|BAI2_ENST00000398556.3_Silent_p.T897T|BAI2_ENST00000465256.1_5'Flank	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	949					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGCGAGCAGGGTGAGCAGCG	0.667																																																0													40	39	39					1																	32203282		2202	4299	6501	SO:0001819	synonymous_variant	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2847C>T	chr1.hg19:g.32203282G>A			B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	hg19	CCDS346.2																																																																																				0.667	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		A	32203282	G	A	32203282	2	1	451	1	0	0	0	0	0	0	0	1	1299	1219	43	2		2	BAI2	1	32203282	Silent	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	16308789	32203282	217047339	3	24592											
ABCA4	24	hgsc.bcm.edu	37	1	94502837	94502837	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:94502837C>A	ENST00000370225.3	-	25	3763	c.3677G>T	c.(3676-3678)gGt>gTt	p.G1226V		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1226					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAGTTCTTGACCAATGCACTC	0.478																																																0													120	117	118					1																	94502837		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3677G>T	chr1.hg19:g.94502837C>A	ENSP00000359245:p.Gly1226Val		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	hg19	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522436	0.85600	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	T	0.80123	-1.34	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	H	0.96080	3.765	0.80722	D	1	D	0.56746	0.977	P	0.55011	0.766	D	0.93070	0.6482	10	0.87932	D	0	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	1226	P78363	ABCA4_HUMAN	V	18;1226	ENSP00000359245:G1226V	ENSP00000359245:G1226V	G	-	2	0	ABCA4	94275425	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.320000	0.79064	2.861000	0.98227	0.655000	0.94253	GGT		0.478	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94502837	C	A	94502837	3	1	451	1	0	0	0	0	1	0	0	0	34	507	18	4	3248	4	ABCA4	1	94502837	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	62299555	94502837	154747784	4	24593											
KCNA2	3737	hgsc.bcm.edu	37	1	111146524	111146524	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:111146524C>A	ENST00000485317.1	-	3	1554	c.881G>T	c.(880-882)cGt>cTt	p.R294L	KCNA2_ENST00000316361.4_Missense_Mutation_p.R294L|KCNA2_ENST00000440270.1_Missense_Mutation_p.R294L|KCNA2_ENST00000369770.3_Missense_Mutation_p.R294L|KCNA2_ENST00000525120.1_5'Flank			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	294					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CCGGATGACACGGAGGATGGC	0.537																																					Pancreas(18;568 735 10587 23710 36357)											0													102	103	103					1																	111146524		2203	4300	6503	SO:0001583	missense	3737			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.881G>T	chr1.hg19:g.111146524C>A	ENSP00000433109:p.Arg294Leu		Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	hg19	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212566	0.58452	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	D;D;D;D	0.99005	-4.93;-5.32;-5.32;-5.32	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.98818	4.34	0.80722	D	1	D;D	0.71674	0.998;0.962	D;P	0.71414	0.973;0.748	D	0.97484	1.0049	10	0.87932	D	0	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	294;294	Q86XG6;P16389	.;KCNA2_HUMAN	L	294	ENSP00000358785:R294L;ENSP00000433109:R294L;ENSP00000415257:R294L;ENSP00000314520:R294L	ENSP00000314520:R294L	R	-	2	0	KCNA2	110948047	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.770000	0.85390	2.785000	0.95823	0.655000	0.94253	CGT		0.537	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		A	111146524	C	A	111146524	3	1	451	1	0	0	0	0	1	0	0	0	8005	536	19	4	622	4	KCNA2	1	111146524	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	16643687	111146524	138104097	5	24594											
SPAG17	200162	hgsc.bcm.edu	37	1	118535132	118535132	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:118535132A>T	ENST00000336338.5	-	36	5383	c.5318T>A	c.(5317-5319)gTc>gAc	p.V1773D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1773						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTCTTTATGACCTCATGCTG	0.473																																																0													116	112	113					1																	118535132		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5318T>A	chr1.hg19:g.118535132A>T	ENSP00000337804:p.Val1773Asp		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	hg19	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562988	0.65538	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19105	2.17	5.38	3.1	0.35709	.	0.311094	0.33854	N	0.004486	T	0.13329	0.0323	L	0.54323	1.7	0.41943	D	0.990622	P	0.47677	0.899	P	0.48227	0.571	T	0.02301	-1.1180	10	0.66056	D	0.02	.	5.9646	0.19318	0.6602:0.0:0.3398:0.0	.	1773	Q6Q759	SPG17_HUMAN	D	1773;253	ENSP00000337804:V1773D	ENSP00000337804:V1773D	V	-	2	0	SPAG17	118336655	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	3.048000	0.49862	0.886000	0.36113	-0.250000	0.11733	GTC		0.473	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		T	118535132	A	T	118535132	3	4	451	1	0	0	0	0	1	0	0	0	14985	275	10	5	1405	5	SPAG17	1	118535132	Missense_Mutation	SNP	A	TCGA-BQ-5875-01A-11D-1589-08	7388608	118535132	130715489	6	24595											
FMO4	2329	hgsc.bcm.edu	37	1	171303684	171303684	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:171303684T>C	ENST00000367749.3	+	8	1292	c.962T>C	c.(961-963)aTt>aCt	p.I321T		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	321					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GAAGAAAACATTGATGTTGTG	0.368																																					Pancreas(24;816 862 7754 7993 32832)											0													92	95	94					1																	171303684		2203	4300	6503	SO:0001583	missense	2329			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.962T>C	chr1.hg19:g.171303684T>C	ENSP00000356723:p.Ile321Thr		Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	hg19	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.668252	0.67814	.	.	ENSG00000076258	ENST00000367749	T	0.56941	0.43	5.63	4.47	0.54385	.	0.249916	0.40144	N	0.001171	T	0.72170	0.3427	M	0.93978	3.48	0.41142	D	0.985967	D	0.69078	0.997	D	0.77557	0.99	T	0.80176	-0.1491	10	0.87932	D	0	-9.0886	12.3662	0.55230	0.0:0.0:0.1412:0.8588	.	321	P31512	FMO4_HUMAN	T	321	ENSP00000356723:I321T	ENSP00000356723:I321T	I	+	2	0	FMO4	169570308	1.000000	0.71417	0.246000	0.24233	0.910000	0.53928	6.102000	0.71486	0.918000	0.36919	0.528000	0.53228	ATT		0.368	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		C	171303684	T	C	171303684	3	2	451	1	0	0	0	0	1	0	0	0	5959	1493	52	3	984	3	FMO4	1	171303684	Missense_Mutation	SNP	T	TCGA-BQ-5875-01A-11D-1589-08	52768552	171303684	77946937	7	24596											
CEP350	9857	hgsc.bcm.edu	37	1	180063597	180063597	+	Missense_Mutation	SNP	A	A	T	rs573430116		TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr1:180063597A>T	ENST00000367607.3	+	34	8775	c.8357A>T	c.(8356-8358)cAg>cTg	p.Q2786L	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2786					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTTAGCAATCAGGAGCTTCTT	0.388																																																0													59	59	59					1																	180063597		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8357A>T	chr1.hg19:g.180063597A>T	ENSP00000356579:p.Gln2786Leu		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	hg19	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377132	0.61735	.	.	ENSG00000135837	ENST00000367607;ENST00000417046	T	0.61859	0.07	5.31	5.31	0.75309	.	0.000000	0.44902	D	0.000414	T	0.70657	0.3249	M	0.72118	2.19	0.45662	D	0.998587	D;P	0.60160	0.987;0.935	D;P	0.67725	0.953;0.614	T	0.72007	-0.4420	9	.	.	.	.	9.4328	0.38620	0.9192:0.0:0.0808:0.0	.	2786;2786	E7EU22;Q5VT06	.;CE350_HUMAN	L	2786;250	ENSP00000356579:Q2786L	.	Q	+	2	0	CEP350	178330220	1.000000	0.71417	0.993000	0.49108	0.935000	0.57460	2.342000	0.43992	2.126000	0.65437	0.482000	0.46254	CAG		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		T	180063597	A	T	180063597	3	4	451	1	0	0	0	0	1	0	0	0	3256	188	7	5	8487	5	CEP350	1	180063597	Missense_Mutation	SNP	A	TCGA-BQ-5875-01A-11D-1589-08	8759913	180063597	69187024	8	24597											
ADAM17	6868	hgsc.bcm.edu	37	2	9630624	9630624	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:9630624C>T	ENST00000310823.3	-	19	2339	c.2157G>A	c.(2155-2157)atG>atA	p.M719I	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	719					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ATGCAGAATCCATGCTGCTCA	0.537																																																0													54	51	52					2																	9630624		2203	4300	6503	SO:0001583	missense	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.2157G>A	chr2.hg19:g.9630624C>T	ENSP00000309968:p.Met719Ile		O60226	Missense_Mutation	SNP	ENST00000310823.3	hg19	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	9.835	1.189343	0.21954	.	.	ENSG00000151694	ENST00000310823	T	0.19806	2.12	5.46	5.46	0.80206	.	0.145332	0.64402	N	0.000007	T	0.14399	0.0348	N	0.12182	0.205	0.80722	D	1	B;B;B	0.13145	0.0;0.007;0.007	B;B;B	0.12156	0.0;0.007;0.007	T	0.11792	-1.0573	10	0.19590	T	0.45	.	19.3715	0.94490	0.0:1.0:0.0:0.0	.	438;719;719	Q53RS1;B2RNB2;P78536	.;.;ADA17_HUMAN	I	719	ENSP00000309968:M719I	ENSP00000309968:M719I	M	-	3	0	ADAM17	9548075	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	2.684000	0.46951	2.570000	0.86706	0.456000	0.33151	ATG		0.537	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			T	9630624	C	T	9630624	3	4	451	1	0	0	0	0	1	0	0	0	238	594	21	2	321	2	ADAM17	2	9630624	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08		9630624	233568749	9	24598											
TTC7A	57217	hgsc.bcm.edu	37	2	47300864	47300864	+	Silent	SNP	C	C	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:47300864C>T	ENST00000319190.5	+	20	2747	c.2379C>T	c.(2377-2379)ggC>ggT	p.G793G	TTC7A_ENST00000263737.6_Silent_p.G439G|RP11-761B3.1_ENST00000422269.1_Intron|AC073283.7_ENST00000421759.1_RNA|TTC7A_ENST00000394850.2_Silent_p.G817G|C2orf61_ENST00000464527.2_Intron|TTC7A_ENST00000409245.1_Silent_p.G759G	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	793					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTCGGCTGGGCCACAAGAGCT	0.652																																																0													66	61	63					2																	47300864		2203	4300	6503	SO:0001819	synonymous_variant	57217			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2379C>T	chr2.hg19:g.47300864C>T			Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	hg19	CCDS33193.1																																																																																				0.652	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		T	47300864	C	T	47300864	2	4	451	1	0	0	0	0	0	0	0	1	16717	726	26	2		2	TTC7A	2	47300864	Silent	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	37670240	47300864	195898509	10	24599											
SPTBN1	6711	hgsc.bcm.edu	37	2	54876308	54876308	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:54876308A>G	ENST00000356805.4	+	25	5464	c.5183A>G	c.(5182-5184)cAg>cGg	p.Q1728R	SPTBN1_ENST00000333896.5_Missense_Mutation_p.Q1715R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1728	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAACTGGGACAGGACTATGAG	0.552																																																0													82	70	74					2																	54876308		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5183A>G	chr2.hg19:g.54876308A>G	ENSP00000349259:p.Gln1728Arg		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	hg19	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936737	0.92458	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.48201	0.82;0.82	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.985;0.996	T	0.77840	-0.2438	10	0.59425	D	0.04	.	16.2826	0.82703	1.0:0.0:0.0:0.0	.	1715;1728	Q01082-3;Q01082	.;SPTB2_HUMAN	R	1728;1715	ENSP00000349259:Q1728R;ENSP00000334156:Q1715R	ENSP00000334156:Q1715R	Q	+	2	0	SPTBN1	54729812	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.281000	0.95811	2.253000	0.74438	0.454000	0.30748	CAG		0.552	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			G	54876308	A	G	54876308	3	3	451	1	0	0	0	0	1	0	0	0	15124	188	7	3	5390	3	SPTBN1	2	54876308	Missense_Mutation	SNP	A	TCGA-BQ-5875-01A-11D-1589-08	7575444	54876308	188323065	11	24600											
IL1R2	7850	hgsc.bcm.edu	37	2	102626224	102626224	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:102626224G>T	ENST00000332549.3	+	3	497	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	IL1R2_ENST00000393414.2_Missense_Mutation_p.D90Y|IL1R2_ENST00000441002.1_Missense_Mutation_p.D90Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	90	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GTGGGCCCAGGACGGTGCTCT	0.597																																					Pancreas(106;189 1628 2302 5133 12295)											0													139	147	145					2																	102626224		2203	4300	6503	SO:0001583	missense	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.268G>T	chr2.hg19:g.102626224G>T	ENSP00000330959:p.Asp90Tyr		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	hg19	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711212	0.30322	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.8	4.92	0.64577	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.512100	0.21363	N	0.075776	T	0.59770	0.2218	M	0.76002	2.32	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.57039	-0.7879	10	0.56958	D	0.05	.	7.7685	0.28993	0.0807:0.0:0.756:0.1633	.	90	P27930	IL1R2_HUMAN	Y	90	ENSP00000330959:D90Y;ENSP00000377066:D90Y;ENSP00000408415:D90Y;ENSP00000414611:D90Y	ENSP00000330959:D90Y	D	+	1	0	IL1R2	101992656	0.347000	0.24853	0.015000	0.15790	0.125000	0.20455	1.279000	0.33191	1.466000	0.48025	-0.268000	0.10319	GAC		0.597	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		T	102626224	G	T	102626224	3	4	451	1	0	0	0	0	1	0	0	0	7661	1174	41	4	274	4	IL1R2	2	102626224	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	47749916	102626224	140573149	12	24601											
SLC4A10	57282	hgsc.bcm.edu	37	2	162711596	162711597	+	Missense_Mutation	DNP	CT	CT	AG			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:162711596_162711597CT>AG	ENST00000446997.1	+	5	626_627	c.533_534CT>AG	c.(532-534)aCT>aAG	p.T178K	SLC4A10_ENST00000535165.1_Missense_Mutation_p.T178K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.T178K|SLC4A10_ENST00000375514.5_Missense_Mutation_p.T189K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.T178K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.T178K	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	178					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CTGAATGGAACTGTGTTGCTGG	0.396																																																0																																										SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	Exception_encountered	chr2.hg19:g.162711596_162711597delinsAG	ENSP00000393066:p.Thr178Lys		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation|Silent	SNP	ENST00000446997.1	hg19	CCDS54411.1																																																																																				0.396	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		AG	162711597	CT	AG	162711596	3	1	451	1	0	0	0	0	1	0	0	0	14657	565	20	4	636	4	SLC4A10	2	162711596	Missense_Mutation	DNP	CT	TCGA-BQ-5875-01A-11D-1589-08	60085372	162711596	80487777	13	24602											
UGT1A9	54600	hgsc.bcm.edu	37	2	234580748	234580748	+	Silent	SNP	T	T	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr2:234580748T>C	ENST00000354728.4	+	1	250	c.168T>C	c.(166-168)gtT>gtC	p.V56V	UGT1A1_ENST00000609637.1_Silent_p.V56V|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	56					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.V56V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	ATGAGGTGGTTGTAGTCATGC	0.532																																																1	Substitution - coding silent(1)	kidney(1)											100	85	90					2																	234580748		2203	4300	6503	SO:0001819	synonymous_variant	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.168T>C	chr2.hg19:g.234580748T>C			B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	hg19	CCDS2505.1																																																																																				0.532	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		C	234580748	T	C	234580748	2	2	451	1	0	0	0	0	0	0	0	1	16957	1799	63	3		3	UGT1A9	2	234580748	Silent	SNP	T	TCGA-BQ-5875-01A-11D-1589-08	71869152	234580748	8618625	14	24603											
STAC	6769	hgsc.bcm.edu	37	3	36587768	36587768	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr3:36587768T>G	ENST00000273183.3	+	11	1496	c.1196T>G	c.(1195-1197)cTa>cGa	p.L399R	STAC_ENST00000457375.2_Missense_Mutation_p.L338R	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	399					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CTTGATGTACTAGAAAACATC	0.493																																																0													151	131	138					3																	36587768		2203	4300	6503	SO:0001583	missense	6769			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.1196T>G	chr3.hg19:g.36587768T>G	ENSP00000273183:p.Leu399Arg		B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	hg19	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.126023	0.77436	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687	T;T	0.09445	2.98;2.98	5.17	5.17	0.71159	Src homology-3 domain (1);Variant SH3 (1);	0.074155	0.56097	D	0.000036	T	0.33904	0.0879	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.10200	-1.0640	10	0.87932	D	0	.	13.5546	0.61751	0.0:0.0:0.0:1.0	.	338;399	E9PEA7;Q99469	.;STAC_HUMAN	R	399;338;331	ENSP00000273183:L399R;ENSP00000393713:L338R	ENSP00000273183:L399R	L	+	2	0	STAC	36562772	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.936000	0.70153	2.074000	0.62210	0.533000	0.62120	CTA		0.493	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		G	36587768	T	G	36587768	3	3	451	1	0	0	0	0	1	0	0	0	15244	1522	53	5	1238	5	STAC	3	36587768	Missense_Mutation	SNP	T	TCGA-BQ-5875-01A-11D-1589-08		36587768	161434662	15	24604											
SETD2	29072	hgsc.bcm.edu	37	3	47061276	47061276	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr3:47061276T>A	ENST00000409792.3	-	19	7447	c.7405A>T	c.(7405-7407)Aaa>Taa	p.K2469*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2469	Interaction with POLR2A.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTTTGCTTTTCTTTGCTAGT	0.428			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													286	251	263					3																	47061276		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7405A>T	chr3.hg19:g.47061276T>A	ENSP00000386759:p.Lys2469*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	48	14.332947	0.99790	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6824	0.77381	0.0:0.0:0.0:1.0	.	.	.	.	X	2469	.	ENSP00000386759:K2469X	K	-	1	0	SETD2	47036280	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.701000	0.84566	2.367000	0.80283	0.528000	0.53228	AAA		0.428	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47061276	T	A	47061276	4	1	451	1	0	0	0	0	0	1	0	0	14137	1792	62	5	301	5	SETD2	3	47061276	Nonsense_Mutation	SNP	T	TCGA-BQ-5875-01A-11D-1589-08	10473508	47061276	150961154	16	24605											
NPRL2	10641	hgsc.bcm.edu	37	3	50386372	50386372	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr3:50386372T>A	ENST00000232501.3	-	5	956	c.518A>T	c.(517-519)gAt>gTt	p.D173V	CYB561D2_ENST00000418577.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	173					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GACAGGTACATCATACTCCTG	0.537																																																0													133	126	128					3																	50386372		2203	4300	6503	SO:0001583	missense	10641			AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.518A>T	chr3.hg19:g.50386372T>A	ENSP00000232501:p.Asp173Val		A8K831|Q6FGS2|Q9Y249|Q9Y497	Missense_Mutation	SNP	ENST00000232501.3	hg19	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945242	0.73672	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	M	0.80422	2.495	0.80722	D	1	P	0.51057	0.941	P	0.51016	0.656	T	0.73113	-0.4085	9	0.30854	T	0.27	-20.1441	15.7486	0.77967	0.0:0.0:0.0:1.0	.	173	Q8WTW4	NPRL2_HUMAN	V	173	.	ENSP00000232501:D173V	D	-	2	0	NPRL2	50361376	1.000000	0.71417	0.990000	0.47175	0.940000	0.58332	7.968000	0.87980	2.122000	0.65172	0.533000	0.62120	GAT		0.537	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		A	50386372	T	A	50386372	3	1	451	1	0	0	0	0	1	0	0	0	10599	1435	50	5	652	5	NPRL2	3	50386372	Missense_Mutation	SNP	T	TCGA-BQ-5875-01A-11D-1589-08	3325096	50386372	147636058	17	24606											
BAP1	8314	hgsc.bcm.edu	37	3	52441190	52441190	+	Splice_Site	SNP	C	C	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr3:52441190C>T	ENST00000460680.1	-	7	1051	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	BAP1_ENST00000296288.5_Splice_Site_p.G194R	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGGTGCCTACCATGGTCAATG	0.597			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Unknown(1)	eye(1)											59	57	58					3																	52441190		2203	4300	6503	SO:0001630	splice_region_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.580+1G>A	chr3.hg19:g.52441190C>T			B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	hg19	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	35	5.425433	0.96131	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.66995	-0.24;-0.24	6.05	6.05	0.98169	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87932	0.2711	10	0.66056	D	0.02	-7.544	20.6086	0.99469	0.0:1.0:0.0:0.0	.	194	Q92560	BAP1_HUMAN	R	194	ENSP00000417132:G194R;ENSP00000296288:G194R	ENSP00000296288:G194R	G	-	1	0	BAP1	52416230	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.783000	0.85696	2.880000	0.98712	0.655000	0.94253	GGG		0.597	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		Missense_Mutation	T	52441190	C	T	52441190	5	4	451	1	0	0	0	0	0	0	1	0	1311	608	21	2	1653	2	BAP1	3	52441190	Splice_Site	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	2054818	52441190	145581240	18	24607											
ZBTB11	27107	hgsc.bcm.edu	37	3	101378652	101378652	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr3:101378652G>C	ENST00000312938.4	-	6	2601	c.2021C>G	c.(2020-2022)aCa>aGa	p.T674R	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTTTACACCTGTGTGCTTTAA	0.373																																																0													118	117	117					3																	101378652		2203	4300	6503	SO:0001583	missense	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2021C>G	chr3.hg19:g.101378652G>C	ENSP00000326200:p.Thr674Arg		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	hg19	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560004	0.86335	.	.	ENSG00000066422	ENST00000312938	T	0.25749	1.78	5.09	5.09	0.68999	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.054542	0.64402	D	0.000001	T	0.47838	0.1467	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48103	-0.9064	10	0.87932	D	0	-12.7873	18.48	0.90808	0.0:0.0:1.0:0.0	.	674	O95625	ZBT11_HUMAN	R	674	ENSP00000326200:T674R	ENSP00000326200:T674R	T	-	2	0	ZBTB11	102861342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.181000	0.94874	2.387000	0.81309	0.491000	0.48974	ACA		0.373	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		C	101378652	G	C	101378652	3	2	451	1	0	0	0	0	1	0	0	0	17529	1377	48	4	1164	4	ZBTB11	3	101378652	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	48937462	101378652	96643778	19	24608											
KCTD8	386617	hgsc.bcm.edu	37	4	44450342	44450342	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr4:44450342C>T	ENST00000360029.3	-	1	482	c.199G>A	c.(199-201)Gac>Aac	p.D67N	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	67	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AAAGTACTGTCCGGGACGCTG	0.682										HNSCC(17;0.042)																																						0													25	21	22					4																	44450342		2190	4277	6467	SO:0001583	missense	386617			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.199G>A	chr4.hg19:g.44450342C>T	ENSP00000353129:p.Asp67Asn		A2RU39	Missense_Mutation	SNP	ENST00000360029.3	hg19	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187972	0.57909	.	.	ENSG00000183783	ENST00000360029	T	0.46451	0.87	3.59	3.59	0.41128	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000001	T	0.34337	0.0894	L	0.28014	0.82	0.58432	D	0.999992	B	0.31640	0.333	B	0.37091	0.241	T	0.28902	-1.0029	10	0.42905	T	0.14	.	14.3619	0.66779	0.0:1.0:0.0:0.0	.	67	Q6ZWB6	KCTD8_HUMAN	N	67	ENSP00000353129:D67N	ENSP00000353129:D67N	D	-	1	0	KCTD8	44145099	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.682000	0.68182	1.810000	0.52873	0.467000	0.42956	GAC		0.682	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			T	44450342	C	T	44450342	3	4	451	1	0	0	0	0	1	0	0	0	8117	855	30	2	1230	2	KCTD8	4	44450342	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08		44450342	146703934	20	24609											
TMEM144	55314	hgsc.bcm.edu	37	4	159138552	159138552	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr4:159138552delA	ENST00000296529.6	+	5	832	c.312delA	c.(310-312)ttafs	p.L104fs	TMEM144_ENST00000514558.1_Frame_Shift_Del_p.L104fs	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	104						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TTAATGCCTTAACTGGCTGGG	0.378																																																0													110	105	107					4																	159138552		2203	4300	6503	SO:0001589	frameshift_variant	55314			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.312delA	chr4.hg19:g.159138552delA	ENSP00000296529:p.Leu104fs		D3DP24|Q49A05|Q9NUT3	Frame_Shift_Del	DEL	ENST00000296529.6	hg19	CCDS3799.1																																																																																				0.378	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		-	159138552	A	-	159138552	7	5	451	1	0	1	0	1	0	0	0	0	16063	359	13	0	322	0	TMEM144	4	159138552	Frame_Shift_Del	DEL	A	TCGA-BQ-5875-01A-11D-1589-08	114688210	159138552	32015724	21	24610											
CDC20B	166979	hgsc.bcm.edu	37	5	54429246	54429246	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr5:54429246C>A	ENST00000381375.2	-	6	836	c.691G>T	c.(691-693)Gac>Tac	p.D231Y	CDC20B_ENST00000296733.1_Missense_Mutation_p.D231Y|CDC20B_ENST00000334206.5_Missense_Mutation_p.D231Y|CDC20B_ENST00000322374.6_Missense_Mutation_p.D231Y			Q86Y33	CD20B_HUMAN	cell division cycle 20B	231										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TTACAGTAGTCATTTCGAAGA	0.353																																																0													99	100	100					5																	54429246		2203	4300	6503	SO:0001583	missense	166979			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.691G>T	chr5.hg19:g.54429246C>A	ENSP00000370781:p.Asp231Tyr		B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	hg19	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642068	0.67244	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	4.97	4.1	0.47936	WD40 repeat-like-containing domain (1);	0.000000	0.49305	D	0.000156	T	0.41789	0.1174	M	0.93328	3.405	0.80722	D	1	D;D;P;D	0.89917	0.999;0.97;0.949;1.0	D;P;P;D	0.74348	0.976;0.808;0.648;0.983	T	0.56607	-0.7951	10	0.87932	D	0	-6.0811	13.2244	0.59907	0.0:0.9223:0.0:0.0777	.	231;231;231;231	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	Y	231	ENSP00000335664:D231Y;ENSP00000296733:D231Y;ENSP00000370781:D231Y;ENSP00000315720:D231Y	ENSP00000296733:D231Y	D	-	1	0	CDC20B	54465003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.180000	0.65048	1.303000	0.44873	0.650000	0.86243	GAC		0.353	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		A	54429246	C	A	54429246	3	1	451	1	0	0	0	0	1	0	0	0	3062	826	29	4	896	4	CDC20B	5	54429246	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08		54429246	126486014	22	24611											
OTP	23440	hgsc.bcm.edu	37	5	76932809	76932809	+	Missense_Mutation	SNP	G	G	C	rs148662448	byFrequency	TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr5:76932809G>C	ENST00000306422.3	-	2	1422	c.284C>G	c.(283-285)gCc>gGc	p.A95G	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	95					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CTGCTGGCCGGCTTGGCTGGG	0.677																																																0													56	64	61					5																	76932809		2203	4300	6503	SO:0001583	missense	23440				CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"Homeoboxes / PRD class"	8518	protein-coding gene	gene with protein product		604529	"orthopedia homolog (Drosophila)"			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.284C>G	chr5.hg19:g.76932809G>C	ENSP00000302814:p.Ala95Gly			Missense_Mutation	SNP	ENST00000306422.3	hg19	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506573	0.64410	.	.	ENSG00000171540	ENST00000306422	D	0.95588	-3.75	5.42	4.53	0.55603	Homeodomain-related (1);Homeodomain-like (1);	1.125700	0.06735	N	0.777347	D	0.90143	0.6920	N	0.08118	0	0.36166	D	0.848472	B	0.06786	0.001	B	0.04013	0.001	T	0.76332	-0.2998	10	0.21014	T	0.42	.	15.0725	0.72049	0.0:0.1428:0.8572:0.0	.	95	Q5XKR4	OTP_HUMAN	G	95	ENSP00000302814:A95G	ENSP00000302814:A95G	A	-	2	0	OTP	76968565	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.154000	0.58125	1.376000	0.46267	0.655000	0.94253	GCC		0.677	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			C	76932809	G	C	76932809	3	2	451	1	0	0	0	0	1	0	0	0	11312	1203	42	4	701	4	OTP	5	76932809	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	22503563	76932809	103982451	23	24612											
AFF4	27125	hgsc.bcm.edu	37	5	132270292	132270292	+	Silent	SNP	T	T	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr5:132270292T>G	ENST00000265343.5	-	3	844	c.465A>C	c.(463-465)tcA>tcC	p.S155S	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Silent_p.S155S	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	155	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATTGTTATATGACTCACGGT	0.522																																					Ovarian(126;889 1733 2942 10745 11605)											0													146	141	143					5																	132270292		2203	4300	6503	SO:0001819	synonymous_variant	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.465A>C	chr5.hg19:g.132270292T>G			B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	hg19	CCDS4164.1																																																																																				0.522	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		G	132270292	T	G	132270292	2	3	451	1	0	0	0	0	0	0	0	1	359	1451	51	5		5	AFF4	5	132270292	Silent	SNP	T	TCGA-BQ-5875-01A-11D-1589-08	55337483	132270292	48644968	24	24613											
CDHR2	54825	hgsc.bcm.edu	37	5	175995765	175995765	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr5:175995765G>T	ENST00000510636.1	+	4	485	c.211G>T	c.(211-213)Gct>Tct	p.A71S	CDHR2_ENST00000506348.1_Missense_Mutation_p.A71S|CDHR2_ENST00000261944.5_Missense_Mutation_p.A71S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTACTTCTTCGCTGTCACTCC	0.612																																																0													93	92	92					5																	175995765		2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.211G>T	chr5.hg19:g.175995765G>T	ENSP00000424565:p.Ala71Ser		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	hg19	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	2.961	-0.214546	0.06101	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60171	0.21;0.21;0.21	4.8	-8.08	0.01094	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17492	0.0420	N	0.01284	-0.91	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25847	-1.0120	9	0.07990	T	0.79	0.5066	4.5371	0.12038	0.2851:0.0:0.3045:0.4103	.	71	Q9BYE9	CDHR2_HUMAN	S	71	ENSP00000424565:A71S;ENSP00000261944:A71S;ENSP00000421078:A71S	ENSP00000261944:A71S	A	+	1	0	CDHR2	175928371	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-2.753000	0.00791	-0.928000	0.03761	-1.233000	0.01565	GCT		0.612	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		T	175995765	G	T	175995765	3	4	451	1	0	0	0	0	1	0	0	0	3121	1087	38	4	221	4	CDHR2	5	175995765	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	43725473	175995765	4919495	25	24614											
DST	667	hgsc.bcm.edu	37	6	56480769	56480769	+	Missense_Mutation	SNP	C	C	T	rs148062292		TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr6:56480769C>T	ENST00000370765.6	-	24	7603	c.7496G>A	c.(7495-7497)cGg>cAg	p.R2499Q	DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1795					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCGGCCACCCGGTACTTTTT	0.512																																																0								C	GLN/ARG,	0,4406		0,0,2203	71	77	75		7496,	5.9	1	6	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	DST	NM_001723.5,NM_015548.4	43,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	2499/2650,	56480769	1,13005	2203	4300	6503	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7496G>A	chr6.hg19:g.56480769C>T	ENSP00000359801:p.Arg2499Gln		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	hg19	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	9.658	1.143434	0.21205	0.0	1.16E-4	ENSG00000151914	ENST00000370765	T	0.72725	-0.68	5.94	5.94	0.96194	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.09310	N	0.999998	B	0.29253	0.239	B	0.15870	0.014	T	0.58730	-0.7585	7	0.66056	D	0.02	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	2499	Q03001-3	.	Q	2499	ENSP00000359801:R2499Q	ENSP00000359801:R2499Q	R	-	2	0	DST	56588728	0.989000	0.36119	0.993000	0.49108	0.251000	0.25915	3.295000	0.51794	2.822000	0.97130	0.557000	0.71058	CGG		0.512	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		T	56480769	C	T	56480769	3	4	451	1	0	0	0	0	1	0	0	0	4785	652	23	1	12903	1	DST	6	56480769	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08		56480769	114634298	26	24615											
SEPT7	989	hgsc.bcm.edu	37	7	35930341	35930341	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr7:35930341delA	ENST00000435235.1	+	10	1209	c.777delA	c.(775-777)agafs	p.R259fs	SEPT7_ENST00000494488.2_Frame_Shift_Del_p.R298fs|SEPT7_ENST00000399035.3_Frame_Shift_Del_p.R311fs|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399034.2_Frame_Shift_Del_p.R313fs|SEPT7_ENST00000350320.6_Frame_Shift_Del_p.R311fs			Q16181	SEPT7_HUMAN	septin 7	312	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						ACAGAAGCAGAAAACTTGCAG	0.333																																																0													51	46	48					7																	35930341		1835	4089	5924	SO:0001589	frameshift_variant	989			S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"Septins"	1717	protein-coding gene	gene with protein product		603151	"CDC10 cell division cycle 10 homolog (S. cerevisiae)"	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.777delA	chr7.hg19:g.35930341delA	ENSP00000413507:p.Arg259fs		Q52M76|Q6NX50	Frame_Shift_Del	DEL	ENST00000435235.1	hg19																																																																																					0.333	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		-	35930341	A	-	35930341	7	5	451	1	0	1	0	1	0	0	0	0	14075	243	9	0	972	0	SEPT7	7	35930341	Frame_Shift_Del	DEL	A	TCGA-BQ-5875-01A-11D-1589-08		35930341	123208322	27	24616	189	2									
SEPT7	989	hgsc.bcm.edu	37	7	35930344	35930344	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr7:35930344A>T	ENST00000435235.1	+	10	1212	c.780A>T	c.(778-780)aaA>aaT	p.K260N	SEPT7_ENST00000494488.2_Missense_Mutation_p.K299N|SEPT7_ENST00000399035.3_Missense_Mutation_p.K312N|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399034.2_Missense_Mutation_p.K314N|SEPT7_ENST00000350320.6_Missense_Mutation_p.K312N			Q16181	SEPT7_HUMAN	septin 7	313	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GAAGCAGAAAACTTGCAGCTG	0.338																																																0													51	46	48					7																	35930344		1836	4089	5925	SO:0001583	missense	989			S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"Septins"	1717	protein-coding gene	gene with protein product		603151	"CDC10 cell division cycle 10 homolog (S. cerevisiae)"	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.780A>T	chr7.hg19:g.35930344A>T	ENSP00000413507:p.Lys260Asn		Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000435235.1	hg19		.	.	.	.	.	.	.	.	.	.	A	15.31	2.797066	0.50208	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	4.94	0.725	0.18242	.	0.000000	0.85682	U	0.000000	T	0.52338	0.1728	M	0.71920	2.185	0.80722	D	1	P;P;P	0.38420	0.63;0.63;0.63	B;B;B	0.42625	0.393;0.393;0.393	T	0.54364	-0.8305	10	0.62326	D	0.03	.	9.3111	0.37905	0.7223:0.0:0.2777:0.0	.	258;312;313	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	N	260;314;312;312;258;260;299	ENSP00000413507:K260N;ENSP00000381992:K314N;ENSP00000344868:K312N;ENSP00000381993:K312N;ENSP00000438395:K299N	ENSP00000344868:K312N	K	+	3	2	SEPT7	35896869	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.373000	0.34272	0.300000	0.22699	0.460000	0.39030	AAA		0.338	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		T	35930344	A	T	35930344	3	4	451	1	0	0	0	0	1	0	0	0	14075	40	2	5	975	5	SEPT7	7	35930344	Missense_Mutation	SNP	A	TCGA-BQ-5875-01A-11D-1589-08	3	35930344	123208319	28	24617	189	2									
FOXP2	93986	hgsc.bcm.edu	37	7	114299729	114299729	+	Splice_Site	SNP	G	G	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr7:114299729G>A	ENST00000393494.2	+	13	1926		c.e13+1		FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000393500.3_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393498.2_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AACTTGGAAGGTAACTACTTT	0.388																																																0													109	103	105					7																	114299729		2203	4300	6503	SO:0001630	splice_region_variant	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1647+1G>A	chr7.hg19:g.114299729G>A			A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	SNP	ENST00000393494.2	hg19	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189262	0.57909	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOXP2	114086965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	.		0.388	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	Intron	A	114299729	G	A	114299729	5	1	451	1	0	0	0	0	0	0	1	0	6029	1275	44	2	1861	2	FOXP2	7	114299729	Splice_Site	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	78369385	114299729	44838934	29	24618											
SGK223	157285	hgsc.bcm.edu	37	8	8234118	8234118	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr8:8234118C>A	ENST00000520004.1	-	3	2065	c.1801G>T	c.(1801-1803)Ggt>Tgt	p.G601C	SGK223_ENST00000330777.4_Missense_Mutation_p.G601C			Q86YV5	SG223_HUMAN		603							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATAGCGACACCGTTGGTCCGG	0.662																																					GBM(34;731 755 10259 33573 33867)											0													33	37	36					8																	8234118		1991	4172	6163	SO:0001583	missense	0																														ENST00000520004.1:c.1801G>T	chr8.hg19:g.8234118C>A	ENSP00000428054:p.Gly601Cys		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	hg19	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965915	0.53507	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.60299	0.2;0.2	4.16	3.28	0.37604	.	0.672928	0.13029	N	0.419511	T	0.62588	0.2440	L	0.29908	0.895	0.25653	N	0.986074	D	0.76494	0.999	D	0.65010	0.931	T	0.54077	-0.8347	10	0.72032	D	0.01	.	11.5527	0.50729	0.0:0.9104:0.0:0.0896	.	601	Q86YV5	SG223_HUMAN	C	601	ENSP00000330930:G601C;ENSP00000428054:G601C	ENSP00000330930:G601C	G	-	1	0	AC068353.1	8271528	0.017000	0.18338	0.019000	0.16419	0.011000	0.07611	0.576000	0.23744	1.057000	0.40506	0.467000	0.42956	GGT		0.662	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			A	8234118	C	A	8234118	3	1	451	1	0	0	0	0	1	0	0	0	14216	652	23	4	2423	4	SGK223	8	8234118	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08		8234118	138129904	30	24619											
ZNF395	55893	hgsc.bcm.edu	37	8	28209093	28209093	+	Silent	SNP	C	C	A	rs145491469	byFrequency	TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr8:28209093C>A	ENST00000344423.5	-	7	1283	c.1152G>T	c.(1150-1152)ccG>ccT	p.P384P	ZNF395_ENST00000523202.1_Silent_p.P384P|ZNF395_ENST00000523095.1_Silent_p.P384P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGAGGACTCCGGGCCAGGAT	0.642																																																0													62	73	69					8																	28209093		2203	4299	6502	SO:0001819	synonymous_variant	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1152G>T	chr8.hg19:g.28209093C>A			B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	hg19	CCDS6067.1																																																																																				0.642	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			A	28209093	C	A	28209093	2	1	451	1	0	0	0	0	0	0	0	1	17886	639	23	4		4	ZNF395	8	28209093	Silent	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	19974975	28209093	118154929	31	24620											
PLEC	5339	hgsc.bcm.edu	37	8	144998457	144998457	+	Silent	SNP	C	C	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr8:144998457C>T	ENST00000322810.4	-	31	6220	c.6051G>A	c.(6049-6051)ctG>ctA	p.L2017L	PLEC_ENST00000354958.2_Silent_p.L1858L|PLEC_ENST00000357649.2_Silent_p.L1884L|PLEC_ENST00000356346.3_Silent_p.L1866L|PLEC_ENST00000345136.3_Silent_p.L1880L|PLEC_ENST00000436759.2_Silent_p.L1907L|PLEC_ENST00000527096.1_Silent_p.L1903L|PLEC_ENST00000398774.2_Silent_p.L1848L|PLEC_ENST00000354589.3_Silent_p.L1880L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2017	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTGCTCCTCCAGCCGCCGCC	0.706																																																0													7	9	8					8																	144998457		1983	4065	6048	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6051G>A	chr8.hg19:g.144998457C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	hg19	CCDS43772.1																																																																																				0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		T	144998457	C	T	144998457	2	4	451	1	0	0	0	0	0	0	0	1	12054	581	21	2		2	PLEC	8	144998457	Silent	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	116789364	144998457	1365565	32	24621											
VPS13A	23230	hgsc.bcm.edu	37	9	79955424	79955424	+	Silent	SNP	T	T	A	rs144477984	byFrequency	TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr9:79955424T>A	ENST00000360280.3	+	50	7244	c.6984T>A	c.(6982-6984)gcT>gcA	p.A2328A	VPS13A_ENST00000376636.3_Silent_p.A2289A|VPS13A_ENST00000376634.4_Silent_p.A2328A|VPS13A_ENST00000357409.5_Silent_p.A2328A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2328					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCAGTGGCTGAAGAAGGAA	0.333																																																0													88	91	90					9																	79955424		2203	4295	6498	SO:0001819	synonymous_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6984T>A	chr9.hg19:g.79955424T>A			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	hg19	CCDS6655.1																																																																																				0.333	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		A	79955424	T	A	79955424	2	1	451	1	0	0	0	0	0	0	0	1	17194	1567	55	5		5	VPS13A	9	79955424	Silent	SNP	T	TCGA-BQ-5875-01A-11D-1589-08		79955424	61258007	33	24622											
TLL2	7093	hgsc.bcm.edu	37	10	98136535	98136535	+	Missense_Mutation	SNP	C	C	A	rs150738442		TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr10:98136535C>A	ENST00000357947.3	-	18	2587	c.2362G>T	c.(2362-2364)Gcg>Tcg	p.A788S		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	788	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTGGGGCTCGCCAGGGTCCCC	0.567																																																0													66	66	66					10																	98136535		2203	4300	6503	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2362G>T	chr10.hg19:g.98136535C>A	ENSP00000350630:p.Ala788Ser		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	hg19	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609563	0.28623	.	.	ENSG00000095587	ENST00000357947	T	0.16897	2.31	4.98	4.07	0.47477	CUB (5);	1.170570	0.06454	N	0.728224	T	0.05044	0.0135	N	0.00666	-1.275	0.22842	N	0.998661	B	0.10296	0.003	B	0.11329	0.006	T	0.36648	-0.9739	10	0.17832	T	0.49	.	3.874	0.09048	0.193:0.6039:0.0:0.2031	.	788	Q9Y6L7	TLL2_HUMAN	S	788	ENSP00000350630:A788S	ENSP00000350630:A788S	A	-	1	0	TLL2	98126525	0.000000	0.05858	0.988000	0.46212	0.744000	0.42396	0.481000	0.22260	1.431000	0.47355	0.655000	0.94253	GCG		0.567	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			A	98136535	C	A	98136535	3	1	451	1	0	0	0	0	1	0	0	0	15951	739	26	4	701	4	TLL2	10	98136535	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08		98136535	37398212	34	24623											
GBF1	8729	hgsc.bcm.edu	37	10	104130546	104130546	+	Missense_Mutation	SNP	G	G	T	rs7894865	byFrequency	TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr10:104130546G>T	ENST00000369983.3	+	29	3846	c.3586G>T	c.(3586-3588)Gtg>Ttg	p.V1196L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1196					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCTTCCTTGTGGAGCGGGC	0.542																																																0													182	147	159					10																	104130546		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3586G>T	chr10.hg19:g.104130546G>T	ENSP00000359000:p.Val1196Leu		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	hg19	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360689	0.24598	.	.	ENSG00000107862	ENST00000369983	T	0.12569	2.67	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	N	0.17872	0.535	0.80722	D	1	B;B;D	0.58970	0.107;0.025;0.984	B;B;D	0.68192	0.037;0.016;0.956	T	0.05289	-1.0894	10	0.19590	T	0.45	-16.6116	19.277	0.94036	0.0:0.0:1.0:0.0	.	1196;1196;1196	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	L	1196	ENSP00000359000:V1196L	ENSP00000359000:V1196L	V	+	1	0	GBF1	104120536	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.674000	0.83992	2.782000	0.95742	0.655000	0.94253	GTG		0.542	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			T	104130546	G	T	104130546	3	4	451	1	0	0	0	0	1	0	0	0	6273	1377	48	4	3696	4	GBF1	10	104130546	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	5994011	104130546	31404201	35	24624											
SUFU	51684	hgsc.bcm.edu	37	10	104353417	104353417	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr10:104353417C>A	ENST00000369902.3	+	5	788	c.622C>A	c.(622-624)Cta>Ata	p.L208I	RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000423559.2_Missense_Mutation_p.L208I|SUFU_ENST00000369899.2_Missense_Mutation_p.L208I|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	208					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CACTGAAGAGCTACACTCAGC	0.607			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													99	83	89					10																	104353417		2203	4300	6503	SO:0001583	missense	51684	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.622C>A	chr10.hg19:g.104353417C>A	ENSP00000358918:p.Leu208Ile		Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	hg19	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614385	0.87359	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.83755	-1.76;-1.76;-1.76	6.08	4.21	0.49690	Suppressor of fused domain (1);	0.062987	0.64402	D	0.000004	D	0.91088	0.7195	M	0.93763	3.455	0.53005	D	0.999963	P;P;D	0.61697	0.816;0.78;0.99	P;P;P	0.61132	0.789;0.683;0.884	D	0.91841	0.5483	10	0.72032	D	0.01	-14.0459	8.8655	0.35282	0.0:0.7723:0.0:0.2277	.	208;208;208	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	I	208	ENSP00000358918:L208I;ENSP00000358915:L208I;ENSP00000411597:L208I	ENSP00000358915:L208I	L	+	1	2	SUFU	104343407	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	2.022000	0.41030	1.557000	0.49525	0.655000	0.94253	CTA		0.607	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		A	104353417	C	A	104353417	3	1	451	1	0	0	0	0	1	0	0	0	15373	796	28	4	640	4	SUFU	10	104353417	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	222871	104353417	31181330	36	24625											
POLR2L	5441	hgsc.bcm.edu	37	11	840428	840428	+	Silent	SNP	G	G	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:840428G>A	ENST00000322028.4	-	2	184	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	TSPAN4_ENST00000397397.2_5'Flank|TSPAN4_ENST00000397408.1_5'Flank|TSPAN4_ENST00000397396.1_5'Flank|TSPAN4_ENST00000397411.2_5'Flank	NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	50					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGTGGGCCAGCAGCATCCGG	0.637																																																0													159	125	137					11																	840428		2203	4298	6501	SO:0001819	synonymous_variant	5441			U37690	CCDS7720.1	11p15	2013-01-21	2002-08-29		ENSG00000177700	ENSG00000177700		"RNA polymerase subunits"	9199	protein-coding gene	gene with protein product		601189	"polymerase (RNA) II (DNA directed) polypeptide L (7.6kD)"			8786124	Standard	NM_021128		Approved	RPB10beta, RBP10, RPABC5, RPB7.6, hRPB7.6, hsRPB10b	uc001lsc.3	P62875	OTTHUMG00000133316	ENST00000322028.4:c.148C>T	chr11.hg19:g.840428G>A			P52436|Q6FHX3	Silent	SNP	ENST00000322028.4	hg19	CCDS7720.1																																																																																				0.637	POLR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257114.1	NM_021128		A	840428	G	A	840428	2	1	451	1	0	0	0	0	0	0	0	1	12229	962	34	2		2	POLR2L	11	840428	Silent	SNP	G	TCGA-BQ-5875-01A-11D-1589-08		840428	134166088	37	24626											
OR51A2	401667	hgsc.bcm.edu	37	11	4976463	4976469	+	Frame_Shift_Del	DEL	AGGGAAG	AGGGAAG	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	AGGGAAG	AGGGAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:4976463_4976469delAGGGAAG	ENST00000380371.1	-	1	474_480	c.475_481delCTTCCCT	c.(475-483)cttcccttcfs	p.LPF159fs	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGAAAGGGAAGGGAAGAACCAGGAGC	0.44																																																0																																										SO:0001589	frameshift_variant	401667			AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.475_481delCTTCCCT	chr11.hg19:g.4976463_4976469delAGGGAAG	ENSP00000369729:p.Leu159fs			Frame_Shift_Del	DEL	ENST00000380371.1	hg19	CCDS31368.1																																																																																				0.44	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		-	4976469	AGGGAAG	-	4976463	7	5	451	1	0	1	0	1	0	0	0	0	11088	72	3	0	462	0	OR51A2	11	4976463	Frame_Shift_Del	DEL	AGGGAAG	TCGA-BQ-5875-01A-11D-1589-08	4136035	4976463	130030053	38	24627											
SAAL1	113174	hgsc.bcm.edu	37	11	18101957	18101957	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:18101957C>G	ENST00000524803.1	-	12	1463	c.1414G>C	c.(1414-1416)Gtt>Ctt	p.V472L	SAAL1_ENST00000300013.4_Missense_Mutation_p.V471L|SAAL1_ENST00000529318.1_Missense_Mutation_p.V474L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	472										breast(2)|large_intestine(5)|lung(8)	15						TAAGTCTGAACCTTCAAACTT	0.318																																																0													59	62	61					11																	18101957		2200	4293	6493	SO:0001583	missense	113174			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1414G>C	chr11.hg19:g.18101957C>G	ENSP00000432487:p.Val472Leu		A6NH05	Missense_Mutation	SNP	ENST00000524803.1	hg19	CCDS31439.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.29|11.29	1.595377|1.595377	0.28445|0.28445	.|.	.|.	ENSG00000166788|ENSG00000166788	ENST00000532452|ENST00000524803;ENST00000300013;ENST00000529318	.|T;T;T	.|0.32023	.|1.47;1.47;1.47	5.56|5.56	4.65|4.65	0.58169|0.58169	.|.	.|0.883413	.|0.10083	.|N	.|0.718158	T|T	0.25568|0.25568	0.0622|0.0622	L|L	0.40543|0.40543	1.245|1.245	0.25551|0.25551	N|N	0.987081|0.987081	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.08055	.|0.003;0.003;0.003	T|T	0.20207|0.20207	-1.0282|-1.0282	5|10	.|0.22109	.|T	.|0.4	-0.1106|-0.1106	9.5663|9.5663	0.39400|0.39400	0.0:0.783:0.1416:0.0753|0.0:0.783:0.1416:0.0753	.|.	.|474;472;472	.|E9PRZ1;G1UCX3;Q96ER3	.|.;.;SAAL1_HUMAN	S|L	130|472;471;474	.|ENSP00000432487:V472L;ENSP00000300013:V471L;ENSP00000432216:V474L	.|ENSP00000300013:V471L	R|V	-|-	3|1	2|0	SAAL1|SAAL1	18058533|18058533	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.389000|0.389000	0.30415|0.30415	1.161000|1.161000	0.31773|0.31773	1.485000|1.485000	0.48380|0.48380	0.549000|0.549000	0.68633|0.68633	AGG|GTT		0.318	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		G	18101957	C	G	18101957	3	3	451	1	0	0	0	0	1	0	0	0	13807	507	18	4	14	4	SAAL1	11	18101957	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	13125494	18101957	116904559	39	24628											
GAB2	9846	hgsc.bcm.edu	37	11	77934564	77934564	+	Silent	SNP	G	G	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:77934564G>A	ENST00000361507.4	-	6	1546	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	GAB2_ENST00000340149.2_Silent_p.D449D	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	487					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGCCAAGTGAGTCAAAGTGAT	0.557																																																0													218	207	211					11																	77934564		2200	4292	6492	SO:0001819	synonymous_variant	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1461C>T	chr11.hg19:g.77934564G>A			A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	hg19	CCDS8259.1																																																																																				0.557	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		A	77934564	G	A	77934564	2	1	451	1	0	0	0	0	0	0	0	1	6151	1020	36	2		2	GAB2	11	77934564	Silent	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	59832607	77934564	57071952	40	24629											
CASP5	838	hgsc.bcm.edu	37	11	104879534	104879534	+	Splice_Site	SNP	T	T	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr11:104879534T>G	ENST00000260315.3	-	2	180	c.181A>C	c.(181-183)Aaa>Caa	p.K61Q	CASP5_ENST00000393139.2_Splice_Site_p.K28Q|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393141.2_Splice_Site_p.K74Q|CASP5_ENST00000526056.1_Splice_Site_p.K74Q|CASP5_ENST00000531367.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	61	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCAGTCTTACTTTTTACACTG	0.388																																																0													101	95	97					11																	104879534		2202	4299	6501	SO:0001630	splice_region_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.181+1A>C	chr11.hg19:g.104879534T>G			B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	hg19	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	8.417	0.845448	0.16963	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.26810	4.66;1.71;4.68;4.66;2.75	1.45	0.338	0.15974	DEATH-like (1);Caspase Recruitment (2);	0.671852	0.11352	U	0.572858	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	B;B	0.28636	0.218;0.183	B;B	0.21546	0.035;0.021	T	0.31916	-0.9926	9	.	.	.	.	3.7847	0.08695	0.0:0.7446:0.0:0.2554	.	61;74	P51878;P51878-5	CASP5_HUMAN;.	Q	74;28;61;74;45	ENSP00000376849:K74Q;ENSP00000376847:K28Q;ENSP00000260315:K61Q;ENSP00000436877:K74Q;ENSP00000415241:K45Q	.	K	-	1	0	CASP5	104384744	0.989000	0.36119	0.124000	0.21820	0.011000	0.07611	0.266000	0.18534	0.155000	0.19261	-0.182000	0.12963	AAA		0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	Missense_Mutation	G	104879534	T	G	104879534	5	3	451	1	0	0	0	0	0	0	1	0	2676	1623	56	5	1155	5	CASP5	11	104879534	Splice_Site	SNP	T	TCGA-BQ-5875-01A-11D-1589-08	26944970	104879534	30126982	41	24630											
KDM5A	5927	hgsc.bcm.edu	37	12	404935	404935	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr12:404935G>C	ENST00000399788.2	-	26	4621	c.4259C>G	c.(4258-4260)cCt>cGt	p.P1420R	KDM5A_ENST00000382815.4_Missense_Mutation_p.P1420R|KDM5A_ENST00000540838.1_5'Flank	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1420					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCTCTTCCGAGGTTGTTTCCT	0.408			T	NUP98	AML																																		Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													97	94	95					12																	404935		1825	4074	5899	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4259C>G	chr12.hg19:g.404935G>C	ENSP00000382688:p.Pro1420Arg		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	hg19	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551819	0.65311	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.85171	-1.95;-1.77	5.42	5.42	0.78866	.	0.118506	0.64402	D	0.000015	D	0.88254	0.6387	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.85541	0.1215	10	0.25751	T	0.34	-15.9882	19.5762	0.95446	0.0:0.0:1.0:0.0	.	1420;1420	P29375;P29375-2	KDM5A_HUMAN;.	R	1420	ENSP00000382688:P1420R;ENSP00000372265:P1420R	ENSP00000372265:P1420R	P	-	2	0	KDM5A	275196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.505000	0.97989	2.699000	0.92147	0.561000	0.74099	CCT		0.408	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		C	404935	G	C	404935	3	2	451	1	0	0	0	0	1	0	0	0	8135	1000	35	4	825	4	KDM5A	12	404935	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08		404935	133446960	42	24631											
AEBP2	121536	hgsc.bcm.edu	37	12	19615463	19615463	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr12:19615463G>C	ENST00000398864.3	+	2	717	c.691G>C	c.(691-693)Gat>Cat	p.D231H	AEBP2_ENST00000541908.1_Missense_Mutation_p.D2H|AEBP2_ENST00000266508.9_Missense_Mutation_p.D231H|AEBP2_ENST00000360995.4_Missense_Mutation_p.D15H	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	231	Interaction with RBBP4.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TACTATAATGGATGTAGACAG	0.328																																																0													57	51	53					12																	19615463		1877	4113	5990	SO:0001583	missense	121536				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.691G>C	chr12.hg19:g.19615463G>C	ENSP00000381840:p.Asp231His		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	ENST00000398864.3	hg19	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961310	0.74016	.	.	ENSG00000139154	ENST00000538425;ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;T;D;D;T	0.91631	-2.52;-0.65;-2.88;-2.88;-0.45	5.55	4.66	0.58398	.	.	.	.	.	D	0.91938	0.7447	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	P	0.62885	0.908	D	0.93102	0.6509	9	0.66056	D	0.02	4.244	14.732	0.69388	0.0692:0.0:0.9308:0.0	.	231	Q6ZN18	AEBP2_HUMAN	H	2;2;231;165;231;15	ENSP00000444255:D2H;ENSP00000437983:D2H;ENSP00000381840:D231H;ENSP00000266508:D231H;ENSP00000354267:D15H	ENSP00000266508:D231H	D	+	1	0	AEBP2	19506730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	1.578000	0.49821	0.655000	0.94253	GAT		0.328	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		C	19615463	G	C	19615463	3	2	451	1	0	0	0	0	1	0	0	0	350	1174	41	4	697	4	AEBP2	12	19615463	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	19210528	19615463	114236432	43	24632											
PFKM	5213	hgsc.bcm.edu	37	12	48538849	48538849	+	Silent	SNP	C	C	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr12:48538849C>A	ENST00000312352.7	+	21	2067	c.2028C>A	c.(2026-2028)gcC>gcA	p.A676A	PFKM_ENST00000551804.1_Silent_p.A645A|PFKM_ENST00000340802.6_Silent_p.A747A|PFKM_ENST00000395233.2_Silent_p.A645A|PFKM_ENST00000359794.5_Silent_p.A676A|PFKM_ENST00000547587.1_Silent_p.A676A	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	676	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGAATTTTGCCACTAAGATGG	0.473																																																0													99	96	97					12																	48538849		2203	4300	6503	SO:0001819	synonymous_variant	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2028C>A	chr12.hg19:g.48538849C>A			J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	hg19	CCDS8760.1																																																																																				0.473	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		A	48538849	C	A	48538849	2	1	451	1	0	0	0	0	0	0	0	1	11767	581	21	4		4	PFKM	12	48538849	Silent	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	28923386	48538849	85313046	44	24633											
NCKAP1L	3071	hgsc.bcm.edu	37	12	54903761	54903761	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr12:54903761T>G	ENST00000293373.6	+	7	806	c.727T>G	c.(727-729)Tca>Gca	p.S243A	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S193A	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	243					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCCTGCTAATTCAGATACAGT	0.488																																																0													146	139	141					12																	54903761		2203	4300	6503	SO:0001583	missense	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.727T>G	chr12.hg19:g.54903761T>G	ENSP00000293373:p.Ser243Ala		B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	hg19	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948714	0.53186	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.32515	1.45;1.45	5.83	5.83	0.93111	.	0.066512	0.64402	D	0.000007	T	0.25791	0.0628	L	0.38838	1.175	0.40526	D	0.980889	P	0.38473	0.633	B	0.38194	0.267	T	0.06058	-1.0848	10	0.18276	T	0.48	-7.392	14.1522	0.65392	0.0:0.0:0.0:1.0	.	243	P55160	NCKPL_HUMAN	A	243;193	ENSP00000293373:S243A;ENSP00000445596:S193A	ENSP00000293373:S243A	S	+	1	0	NCKAP1L	53190028	1.000000	0.71417	0.930000	0.37139	0.606000	0.37113	7.701000	0.84566	2.216000	0.71823	0.460000	0.39030	TCA		0.488	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		G	54903761	T	G	54903761	3	3	451	1	0	0	0	0	1	0	0	0	10224	1783	62	5	753	5	NCKAP1L	12	54903761	Missense_Mutation	SNP	T	TCGA-BQ-5875-01A-11D-1589-08	6364912	54903761	78948134	45	24634											
GDE1	51573	hgsc.bcm.edu	37	16	19516303	19516303	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:19516303A>C	ENST00000353258.3	-	5	928	c.748T>G	c.(748-750)Ttt>Gtt	p.F250V	CTA-363E6.7_ENST00000569345.1_RNA	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	250	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						ATCATAACAAATATAAAATGT	0.403																																																0													161	151	154					16																	19516303		2197	4300	6497	SO:0001583	missense	51573				CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"membrane interacting protein of RGS16"	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.748T>G	chr16.hg19:g.19516303A>C	ENSP00000261386:p.Phe250Val		O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	ENST00000353258.3	hg19	CCDS10578.1	.	.	.	.	.	.	.	.	.	.	A	5.389	0.256908	0.10185	.	.	ENSG00000006007	ENST00000353258	T	0.27557	1.66	5.66	3.41	0.39046	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.193879	0.56097	D	0.000040	T	0.13884	0.0336	N	0.08118	0	0.23533	N	0.997474	B	0.24368	0.102	B	0.24701	0.055	T	0.20840	-1.0263	10	0.28530	T	0.3	-7.2402	5.9584	0.19286	0.7453:0.0:0.1327:0.122	.	250	Q9NZC3	GDE1_HUMAN	V	250	ENSP00000261386:F250V	ENSP00000261386:F250V	F	-	1	0	GDE1	19423804	0.998000	0.40836	0.125000	0.21846	0.104000	0.19210	3.728000	0.54991	0.417000	0.25871	0.533000	0.62120	TTT		0.403	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		C	19516303	A	C	19516303	3	2	451	1	0	0	0	0	1	0	0	0	6312	101	4	5	255	5	GDE1	16	19516303	Missense_Mutation	SNP	A	TCGA-BQ-5875-01A-11D-1589-08		19516303	70838450	46	24635											
EEF2K	29904	hgsc.bcm.edu	37	16	22237117	22237117	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:22237117C>T	ENST00000263026.5	+	2	541	c.67C>T	c.(67-69)Cat>Tat	p.H23Y		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	23			H -> R (in dbSNP:rs9935059). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846}.		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)		CCGAGCTGGCCATGATGGTGA	0.557																																					NSCLC(195;1411 2157 20319 27471 51856)											0													56	55	55					16																	22237117		2197	4300	6497	SO:0001583	missense	29904			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.67C>T	chr16.hg19:g.22237117C>T	ENSP00000263026:p.His23Tyr		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	hg19	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	1.297	-0.605948	0.03717	.	.	ENSG00000103319	ENST00000263026	T	0.08102	3.13	5.82	5.82	0.92795	.	0.750933	0.13237	N	0.403188	T	0.06142	0.0159	L	0.34521	1.04	0.09310	N	1	B	0.18863	0.031	B	0.19148	0.024	T	0.45891	-0.9230	10	0.02654	T	1	-9.8593	8.7204	0.34436	0.1519:0.7677:0.0:0.0804	.	23	O00418	EF2K_HUMAN	Y	23	ENSP00000263026:H23Y	ENSP00000263026:H23Y	H	+	1	0	EEF2K	22144618	0.005000	0.15991	0.338000	0.25549	0.158000	0.22134	0.566000	0.23593	2.757000	0.94681	0.655000	0.94253	CAT		0.557	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		T	22237117	C	T	22237117	3	4	451	1	0	0	0	0	1	0	0	0	4932	594	21	2	69	2	EEF2K	16	22237117	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	2720814	22237117	68117636	47	24636											
CX3CL1	6376	hgsc.bcm.edu	37	16	57413588	57413588	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:57413588A>G	ENST00000006053.6	+	2	224	c.113A>G	c.(112-114)aAg>aGg	p.K38R	CX3CL1_ENST00000565912.1_5'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.K44R|CX3CL1_ENST00000564948.1_Intron	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	38	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						ACGTGCAGCAAGATGACATCA	0.522																																																0													181	129	146					16																	57413588		2198	4300	6498	SO:0001583	missense	6376			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.113A>G	chr16.hg19:g.57413588A>G	ENSP00000006053:p.Lys38Arg		O00672	Missense_Mutation	SNP	ENST00000006053.6	hg19	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.382853	0.25031	.	.	ENSG00000006210	ENST00000006053	T	0.05199	3.48	2.87	0.504	0.16946	Chemokine interleukin-8-like domain (3);	0.903877	0.09116	N	0.846367	T	0.05777	0.0151	L	0.41710	1.295	0.23421	N	0.997716	B	0.17268	0.021	B	0.18871	0.023	T	0.42481	-0.9449	10	0.87932	D	0	-13.2272	3.0514	0.06171	0.602:0.2553:0.1427:0.0	.	38	P78423	X3CL1_HUMAN	R	38	ENSP00000006053:K38R	ENSP00000006053:K38R	K	+	2	0	CX3CL1	55971089	0.037000	0.19845	0.149000	0.22428	0.245000	0.25701	-0.164000	0.09983	0.081000	0.16988	0.254000	0.18369	AAG		0.522	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		G	57413588	A	G	57413588	3	3	451	1	0	0	0	0	1	0	0	0	4076	72	3	3	119	3	CX3CL1	16	57413588	Missense_Mutation	SNP	A	TCGA-BQ-5875-01A-11D-1589-08	35176471	57413588	32941165	48	24637											
SLC12A4	6560	hgsc.bcm.edu	37	16	67981315	67981315	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:67981315C>G	ENST00000316341.3	-	16	2131	c.1991G>C	c.(1990-1992)gGg>gCg	p.G664A	SLC12A4_ENST00000572037.1_Missense_Mutation_p.G616A|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G664A|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G633A|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G664A|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G658A|SLC12A4_ENST00000422611.2_Missense_Mutation_p.G666A|CTC-479C5.17_ENST00000590594.1_lincRNA	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	664					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCTCGGATCCCGTCACCCCA	0.672																																																0													46	56	53					16																	67981315		2195	4299	6494	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1991G>C	chr16.hg19:g.67981315C>G	ENSP00000318557:p.Gly664Ala		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	hg19	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435871	0.96168	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	5.76	5.76	0.90799	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;0.999;1.0;0.982;0.982;0.986	D;D;D;P;P;D	0.97110	0.95;0.992;1.0;0.854;0.854;0.91	D	0.99872	1.1098	10	0.72032	D	0.01	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	666;664;633;658;664;664	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	A	666;633;658;664;664	ENSP00000395983:G666A;ENSP00000438334:G633A;ENSP00000445962:G658A;ENSP00000343374:G664A;ENSP00000318557:G664A	ENSP00000318557:G664A	G	-	2	0	SLC12A4	66538816	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.760000	0.85248	2.732000	0.93576	0.655000	0.94253	GGG		0.672	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		G	67981315	C	G	67981315	3	3	451	1	0	0	0	0	1	0	0	0	14391	623	22	4	1302	4	SLC12A4	16	67981315	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	10567727	67981315	22373438	49	24638											
NFATC3	4775	hgsc.bcm.edu	37	16	68224719	68224719	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:68224719C>A	ENST00000346183.3	+	9	2171	c.2147C>A	c.(2146-2148)cCa>cAa	p.P716Q	NFATC3_ENST00000329524.4_Missense_Mutation_p.P716Q|NFATC3_ENST00000349223.5_Missense_Mutation_p.P716Q|NFATC3_ENST00000575270.1_Missense_Mutation_p.P716Q|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	716					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCTTCAGTTCCATCTTTGCCT	0.383																																																0													107	99	101					16																	68224719		2198	4300	6498	SO:0001583	missense	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2147C>A	chr16.hg19:g.68224719C>A	ENSP00000300659:p.Pro716Gln		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	hg19	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808656	0.70797	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.14516	2.5;2.5;2.5	5.55	4.59	0.56863	.	0.059669	0.64402	D	0.000002	T	0.33206	0.0855	M	0.72894	2.215	0.44079	D	0.996834	P;D;P;P	0.57257	0.747;0.979;0.747;0.747	P;P;P;P	0.58970	0.499;0.849;0.499;0.499	T	0.14144	-1.0483	10	0.72032	D	0.01	-2.556	15.7347	0.77834	0.1378:0.8622:0.0:0.0	.	716;716;716;716	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Q	716;716;716;237	ENSP00000264008:P716Q;ENSP00000300659:P716Q;ENSP00000331324:P716Q	ENSP00000331324:P716Q	P	+	2	0	NFATC3	66782220	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.294000	0.78760	1.330000	0.45394	-0.321000	0.08615	CCA		0.383	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		A	68224719	C	A	68224719	3	1	451	1	0	0	0	0	1	0	0	0	10366	594	21	4	2181	4	NFATC3	16	68224719	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	243404	68224719	22130034	50	24639											
CHMP1A	5119	hgsc.bcm.edu	37	16	89715819	89715819	+	Silent	SNP	C	C	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:89715819C>T	ENST00000397901.3	-	4	448	c.192G>A	c.(190-192)cgG>cgA	p.R64R	CHMP1A_ENST00000535997.2_5'UTR|CHMP1A_ENST00000253475.5_Missense_Mutation_p.D58N|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000550102.1_Silent_p.R64R	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	64					cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGGACGCCATCCGAAGCCAGT	0.602																																																0													90	104	99					16																	89715819		2154	4245	6399	SO:0001819	synonymous_variant	5119			U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"Charged multivesicular body proteins"	8740	protein-coding gene	gene with protein product		164010	"procollagen (type III) N-endopeptidase", "chromatin modifying protein 1A"	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.192G>A	chr16.hg19:g.89715819C>T			A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	ENST00000397901.3	hg19	CCDS45552.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674550	0.29693	.	.	ENSG00000131165	ENST00000253475	.	.	.	5.38	-6.01	0.02199	.	0.480369	0.15538	N	0.257085	T	0.22244	0.0536	.	.	.	0.09310	N	0.999992	B	0.12013	0.005	B	0.09377	0.004	T	0.15009	-1.0452	8	0.87932	D	0	0.0142	3.6277	0.08119	0.1185:0.3755:0.2125:0.2936	.	58	A6NG32	.	N	58	.	ENSP00000253475:D58N	D	-	1	0	CHMP1A	88243320	0.002000	0.14202	0.974000	0.42286	0.700000	0.40528	-1.471000	0.02344	-0.529000	0.06358	-1.157000	0.01802	GAT		0.602	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		T	89715819	C	T	89715819	2	4	451	1	0	0	0	0	0	0	0	1	3354	855	30	2		2	CHMP1A	16	89715819	Silent	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	21491100	89715819	638934	51	24640											
CDK10	8558	hgsc.bcm.edu	37	16	89756963	89756963	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr16:89756963C>T	ENST00000353379.7	+	3	206	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000331006.8_Missense_Mutation_p.R8W	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	55	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CATTCCAGATCGGGCCCGGGA	0.592																																																0													195	162	173					16																	89756963		2198	4300	6498	SO:0001583	missense	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.163C>T	chr16.hg19:g.89756963C>T	ENSP00000338673:p.Arg55Trp		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	hg19	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617358	0.87359	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000353379	T;T	0.66995	0.87;-0.24	5.1	3.11	0.35812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	D	0.87752	0.2592	10	0.87932	D	0	-35.2961	14.2251	0.65853	0.2716:0.7284:0.0:0.0	.	49;55;49	B7Z319;Q15131;B3KQJ3	.;CDK10_HUMAN;.	W	8;26;55	ENSP00000329957:R8W;ENSP00000338673:R55W	ENSP00000329957:R8W	R	+	1	2	CDK10	88284464	1.000000	0.71417	0.996000	0.52242	0.815000	0.46073	3.632000	0.54287	0.517000	0.28361	0.561000	0.74099	CGG		0.592	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			T	89756963	C	T	89756963	3	4	451	1	0	0	0	0	1	0	0	0	3127	875	31	1	173	1	CDK10	16	89756963	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	41144	89756963	597790	52	24641											
ACAP1	9744	hgsc.bcm.edu	37	17	7250507	7250507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:7250507G>A	ENST00000158762.3	+	14	1495	c.1289G>A	c.(1288-1290)tGg>tAg	p.W430*		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	430	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCCCCGGAGTGGGCCAGCATC	0.657																																																0													75	86	82					17																	7250507		2203	4300	6503	SO:0001587	stop_gained	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1289G>A	chr17.hg19:g.7250507G>A	ENSP00000158762:p.Trp430*		Q53XN9	Nonsense_Mutation	SNP	ENST00000158762.3	hg19	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	40	8.222149	0.98712	.	.	ENSG00000072818	ENST00000158762	.	.	.	4.77	4.77	0.60923	.	0.120594	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3166	0.74085	0.0:0.0:1.0:0.0	.	.	.	.	X	430	.	ENSP00000158762:W430X	W	+	2	0	ACAP1	7191231	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.244000	0.95423	2.480000	0.83734	0.462000	0.41574	TGG		0.657	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		A	7250507	G	A	7250507	4	1	451	1	0	0	0	0	0	1	0	0	118	1357	47	2	1343	2	ACAP1	17	7250507	Nonsense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08		7250507	73944703	53	24642											
ATAD5	79915	hgsc.bcm.edu	37	17	29162059	29162059	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:29162059G>C	ENST00000321990.4	+	2	1338	c.960G>C	c.(958-960)aaG>aaC	p.K320N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	320					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TACGCTTTAAGACAGTTACTG	0.378																																																0													51	54	53					17																	29162059		2173	4287	6460	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.960G>C	chr17.hg19:g.29162059G>C	ENSP00000313171:p.Lys320Asn		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	hg19	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	9.891	1.204236	0.22205	.	.	ENSG00000176208	ENST00000321990	T	0.11930	2.73	5.91	2.57	0.30868	.	0.221364	0.38778	N	0.001570	T	0.29061	0.0722	M	0.66939	2.045	0.29942	N	0.821002	D;D	0.76494	0.999;0.997	D;P	0.71656	0.974;0.879	T	0.06789	-1.0807	10	0.87932	D	0	.	7.1115	0.25392	0.4358:0.0:0.5642:0.0	.	320;320	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	N	320	ENSP00000313171:K320N	ENSP00000313171:K320N	K	+	3	2	ATAD5	26186185	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	1.162000	0.31786	0.850000	0.35239	-0.136000	0.14681	AAG		0.378	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		C	29162059	G	C	29162059	3	2	451	1	0	0	0	0	1	0	0	0	1076	933	33	4	966	4	ATAD5	17	29162059	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	21911552	29162059	52033151	54	24643											
LRRC37B	114659	hgsc.bcm.edu	37	17	30348539	30348539	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:30348539G>T	ENST00000341671.7	+	1	379	c.374G>T	c.(373-375)cGg>cTg	p.R125L	LRRC37B_ENST00000394713.3_Missense_Mutation_p.R125L|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R43L|LRRC37B_ENST00000327564.7_Missense_Mutation_p.R152L|LRRC37B_ENST00000584368.1_Missense_Mutation_p.R137L	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	125						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AATGACAAGCGGACTCCAGAA	0.537																																																0													67	72	70					17																	30348539		2203	4299	6502	SO:0001583	missense	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.374G>T	chr17.hg19:g.30348539G>T	ENSP00000340519:p.Arg125Leu		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	hg19	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.679426	0.00102	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.48836	1.03;0.8;1.92;0.83	1.88	-3.76	0.04359	.	.	.	.	.	T	0.08846	0.0219	N	0.00210	-1.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08027	-1.0742	9	0.09338	T	0.73	.	1.1007	0.01683	0.17:0.2722:0.3459:0.2118	.	125;125	Q17RC9;Q96QE4	.;LR37B_HUMAN	L	43;152;125;125	ENSP00000443345:R43L;ENSP00000332536:R152L;ENSP00000378202:R125L;ENSP00000340519:R125L	ENSP00000332536:R152L	R	+	2	0	LRRC37B	27372652	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.498000	0.06420	-2.354000	0.00614	-1.626000	0.00786	CGG		0.537	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		T	30348539	G	T	30348539	3	4	451	1	0	0	0	0	1	0	0	0	8996	1116	39	4	376	4	LRRC37B	17	30348539	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	1186480	30348539	50846671	55	24644											
MFSD11	79157	hgsc.bcm.edu	37	17	74772621	74772621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr17:74772621C>T	ENST00000588460.1	+	12	3225	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	MFSD11_ENST00000590514.1_Nonsense_Mutation_p.Q395*|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000586622.1_Nonsense_Mutation_p.Q395*|MFSD11_ENST00000336509.4_Nonsense_Mutation_p.Q395*|MFSD11_ENST00000593181.1_Nonsense_Mutation_p.Q343*|MFSD11_ENST00000355954.3_Nonsense_Mutation_p.Q343*	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	395						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAAGTTTGTTCAGGTAACCTC	0.423																																																0													165	158	160					17																	74772621		2203	4300	6503	SO:0001587	stop_gained	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1183C>T	chr17.hg19:g.74772621C>T	ENSP00000464932:p.Gln395*		O43442|Q9NXI5	Nonsense_Mutation	SNP	ENST00000588460.1	hg19	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	C	39	7.628628	0.98399	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.9106	19.2358	0.93858	0.0:1.0:0.0:0.0	.	.	.	.	X	395;343	.	ENSP00000337240:Q395X	Q	+	1	0	MFSD11	72284216	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	7.624000	0.83124	2.529000	0.85273	0.563000	0.77884	CAG		0.423	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		T	74772621	C	T	74772621	4	4	451	1	0	0	0	0	0	1	0	0	9531	827	29	2	1229	2	MFSD11	17	74772621	Nonsense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08	44424082	74772621	6422589	56	24645											
SYT4	6860	hgsc.bcm.edu	37	18	40853823	40853823	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr18:40853823C>T	ENST00000255224.3	-	2	939	c.571G>A	c.(571-573)Gac>Aac	p.D191N	SYT4_ENST00000590752.1_Missense_Mutation_p.D173N|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	191	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ATATATGGGTCAGAGGTCATC	0.438																																					NSCLC(85;81 1419 2855 22820 35912)											0													78	77	78					18																	40853823		2203	4300	6503	SO:0001583	missense	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.571G>A	chr18.hg19:g.40853823C>T	ENSP00000255224:p.Asp191Asn		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	hg19	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979225	0.92982	.	.	ENSG00000132872	ENST00000255224	T	0.14516	2.5	5.87	5.87	0.94306	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.19192	-1.0313	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	173;191	B4DEU3;Q9H2B2	.;SYT4_HUMAN	N	191	ENSP00000255224:D191N	ENSP00000255224:D191N	D	-	1	0	SYT4	39107821	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.729000	0.84864	2.941000	0.99782	0.655000	0.94253	GAC		0.438	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		T	40853823	C	T	40853823	3	4	451	1	0	0	0	0	1	0	0	0	15481	826	29	2	718	2	SYT4	18	40853823	Missense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08		40853823	37223425	57	24646											
MRPL54	116541	hgsc.bcm.edu	37	19	3765208	3765208	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr19:3765208G>A	ENST00000330133.4	+	2	200	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	55						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCAGCGAGGCCCTCAAGGA	0.572																																																0													109	90	96					19																	3765208		2202	4300	6502	SO:0001583	missense	116541				CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"Mitochondrial ribosomal proteins / large subunits"	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.163G>A	chr19.hg19:g.3765208G>A	ENSP00000331849:p.Ala55Thr			Missense_Mutation	SNP	ENST00000330133.4	hg19	CCDS12111.1	.	.	.	.	.	.	.	.	.	.	G	5.440	0.266338	0.10294	.	.	ENSG00000183617	ENST00000330133	.	.	.	4.9	1.59	0.23543	.	0.387651	0.25753	N	0.028522	T	0.22704	0.0548	N	0.19112	0.55	0.09310	N	0.999999	B	0.14438	0.01	B	0.12837	0.008	T	0.18840	-1.0324	9	0.16420	T	0.52	-5.8698	8.109	0.30903	0.2723:0.0:0.7277:0.0	.	55	Q6P161	RM54_HUMAN	T	55	.	ENSP00000331849:A55T	A	+	1	0	MRPL54	3716208	0.988000	0.35896	0.368000	0.25939	0.019000	0.09904	2.395000	0.44459	0.485000	0.27652	0.462000	0.41574	GCC		0.572	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1	NM_172251		A	3765208	G	A	3765208	3	1	451	1	0	0	0	0	1	0	0	0	9820	1203	42	2	169	2	MRPL54	19	3765208	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08		3765208	55363775	58	24647											
ZNF225	7768	hgsc.bcm.edu	37	19	44635911	44635911	+	Silent	SNP	A	A	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr19:44635911A>C	ENST00000262894.6	+	5	1424	c.1144A>C	c.(1144-1146)Aga>Cga	p.R382R	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.R382R	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AAAGAGCTTCAGATGGGCCTC	0.408																																																0													74	80	78					19																	44635911		2182	4282	6464	SO:0001819	synonymous_variant	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1144A>C	chr19.hg19:g.44635911A>C			A8K8S2|Q53F12|Q9NS46|Q9UID8	Silent	SNP	ENST00000262894.6	hg19	CCDS46100.1																																																																																				0.408	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			C	44635911	A	C	44635911	2	2	451	1	0	0	0	0	0	0	0	1	17784	180	7	5		5	ZNF225	19	44635911	Silent	SNP	A	TCGA-BQ-5875-01A-11D-1589-08	40870703	44635911	14493072	59	24648											
ZNF547	284306	hgsc.bcm.edu	37	19	57888699	57888699	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr19:57888699G>A	ENST00000282282.3	+	4	505	c.355G>A	c.(355-357)Gca>Aca	p.A119T	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACGTGTCCAGCACATCTTCA	0.517																																																0													100	88	92					19																	57888699		2203	4300	6503	SO:0001583	missense	284306			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"Zinc fingers, C2H2-type", "-"	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.355G>A	chr19.hg19:g.57888699G>A	ENSP00000282282:p.Ala119Thr		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	hg19	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727951	0.30593	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.05855	3.38	2.09	-1.39	0.08997	.	.	.	.	.	T	0.05823	0.0152	L	0.37800	1.135	0.09310	N	1	P;B;P	0.51057	0.728;0.141;0.941	B;B;B	0.43889	0.358;0.031;0.435	T	0.36311	-0.9753	9	0.42905	T	0.14	.	6.7967	0.23729	0.4946:0.0:0.5054:0.0	.	119;119;119	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	T	119	ENSP00000282282:A119T	ENSP00000282282:A119T	A	+	1	0	ZNF547	62580511	0.000000	0.05858	0.004000	0.12327	0.227000	0.25037	-0.074000	0.11450	-0.246000	0.09611	0.491000	0.48974	GCA		0.517	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		A	57888699	G	A	57888699	3	1	451	1	0	0	0	0	1	0	0	0	17984	971	34	2	365	2	ZNF547	19	57888699	Missense_Mutation	SNP	G	TCGA-BQ-5875-01A-11D-1589-08	13252788	57888699	1240284	60	24649											
ITGB2	3689	hgsc.bcm.edu	37	21	46306670	46306670	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr21:46306670A>C	ENST00000397850.2	-	16	2680	c.2228T>G	c.(2227-2229)cTc>cGc	p.L743R	ITGB2_ENST00000397857.1_Missense_Mutation_p.L743R|ITGB2_ENST00000302347.5_Missense_Mutation_p.L743R|ITGB2_ENST00000397854.3_Missense_Mutation_p.L686R|ITGB2_ENST00000397852.1_Missense_Mutation_p.L743R|ITGB2_ENST00000355153.4_Missense_Mutation_p.L743R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	743					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTGGGACTTGAGCTTCTCCTT	0.617																																																0													110	88	96					21																	46306670		2203	4300	6503	SO:0001583	missense	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.2228T>G	chr21.hg19:g.46306670A>C	ENSP00000380948:p.Leu743Arg		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	hg19	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	A	2.100	-0.406333	0.04832	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	4.62	2.16	0.27623	Integrin beta subunit, cytoplasmic (2);	.	.	.	.	T	0.78483	0.4290	L	0.34521	1.04	0.30302	N	0.789334	P;P	0.37276	0.589;0.589	B;B	0.43018	0.405;0.315	T	0.67795	-0.5578	9	0.15066	T	0.55	.	1.6167	0.02705	0.5553:0.1773:0.0964:0.171	.	686;743	A8MYE6;P05107	.;ITB2_HUMAN	R	743;743;686;743;743;743	ENSP00000380950:L743R;ENSP00000380955:L743R;ENSP00000380952:L686R;ENSP00000347279:L743R;ENSP00000380948:L743R;ENSP00000303242:L743R	ENSP00000303242:L743R	L	-	2	0	ITGB2	45131098	1.000000	0.71417	0.996000	0.52242	0.100000	0.18952	1.319000	0.33655	0.157000	0.19338	-0.250000	0.11733	CTC		0.617	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		C	46306670	A	C	46306670	3	2	451	1	0	0	0	0	1	0	0	0	7896	304	11	5	89	5	ITGB2	21	46306670	Missense_Mutation	SNP	A	TCGA-BQ-5875-01A-11D-1589-08		46306670	1823225	61	24650											
NF2	4771	hgsc.bcm.edu	37	22	30038223	30038223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chr22:30038223C>A	ENST00000338641.4	+	4	837	c.396C>A	c.(394-396)taC>taA	p.Y132*	NF2_ENST00000397789.3_Nonsense_Mutation_p.Y132*|NF2_ENST00000361166.4_Nonsense_Mutation_p.Y132*|NF2_ENST00000361452.4_Nonsense_Mutation_p.Y91*|NF2_ENST00000413209.2_Nonsense_Mutation_p.Y132*|NF2_ENST00000361676.4_Nonsense_Mutation_p.Y90*|NF2_ENST00000403435.1_Nonsense_Mutation_p.Y132*|NF2_ENST00000403999.3_Nonsense_Mutation_p.Y132*|NF2_ENST00000347330.5_Nonsense_Mutation_p.Y49*|NF2_ENST00000353887.4_Nonsense_Mutation_p.Y49*|NF2_ENST00000334961.7_Nonsense_Mutation_p.Y49*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	132	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.V122_K149del(5)|p.?(3)|p.L127_P134del(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AAAAGATCTACTGCCCTCCTG	0.468			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	10	Deletion - In frame(6)|Unknown(3)|Deletion - Frameshift(1)	soft_tissue(8)|large_intestine(1)|stomach(1)											95	90	92					22																	30038223		2203	4300	6503	SO:0001587	stop_gained	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.396C>A	chr22.hg19:g.30038223C>A	ENSP00000344666:p.Tyr132*		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	hg19	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	39	7.545417	0.98348	.	.	ENSG00000186575	ENST00000413209;ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.45	2.11	0.27256	.	0.116668	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5018	0.50441	0.0:0.7981:0.0:0.2019	.	.	.	.	X	132;49;132;132;91;132;132;49;49;132;90;132	.	.	Y	+	3	2	NF2	28368223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.702000	0.37836	0.657000	0.30906	0.655000	0.94253	TAC		0.468	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		A	30038223	C	A	30038223	4	1	451	1	0	0	0	0	0	1	0	0	10359	576	20	4	410	4	NF2	22	30038223	Nonsense_Mutation	SNP	C	TCGA-BQ-5875-01A-11D-1589-08		30038223	21266343	62	24651											
SLC9A7	84679	hgsc.bcm.edu	37	X	46491075	46491075	+	Silent	SNP	A	A	T			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chrX:46491075A>T	ENST00000328306.4	-	14	1708	c.1683T>A	c.(1681-1683)gtT>gtA	p.V561V	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	561					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GATCGGGGTCAACACCAACTC	0.498																																					Pancreas(118;454 1696 1930 13865 39976)											0													110	90	97					X																	46491075		2203	4300	6503	SO:0001819	synonymous_variant	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1683T>A	chrX.hg19:g.46491075A>T			O75827|Q5JXP9	Silent	SNP	ENST00000328306.4	hg19	CCDS14269.1																																																																																				0.498	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		T	46491075	A	T	46491075	2	4	451	1	0	0	0	0	0	0	0	1	14725	117	5	5		5	SLC9A7	23	46491075	Silent	SNP	A	TCGA-BQ-5875-01A-11D-1589-08		46491075	108779485	63	24652											
MCTS1	28985	hgsc.bcm.edu	37	X	119739292	119739293	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chrX:119739292_119739293insAT	ENST00000371317.5	+	2	299_300	c.42_43insAT	c.(43-45)atcfs	p.I15fs	MCTS1_ENST00000487133.1_3'UTR|MCTS1_ENST00000371315.3_Frame_Shift_Ins_p.I16fs	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	15					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TGTCCAACTGCATCCAGTTGAA	0.332																																																0																																										SO:0001589	frameshift_variant	28985			AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.43_44dupAT	chrX.hg19:g.119739293_119739294dupAT	ENSP00000360367:p.Ile15fs		B4DGY2|Q502X6	Frame_Shift_Ins	INS	ENST00000371317.5	hg19	CCDS14601.1																																																																																				0.332	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1	NM_014060		AT	119739293	-	AT	119739292	7	5	451	1	0	1	1	0	0	0	0	0	9404	718	25	0	66	0	MCTS1	23	119739292	Frame_Shift_Ins	INS	-	TCGA-BQ-5875-01A-11D-1589-08	73248217	119739292	35531268	64	24653	190	2									
MCTS1	28985	hgsc.bcm.edu	37	X	119739295	119739296	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chrX:119739295_119739296CC>AT	ENST00000371317.5	+	2	302_303	c.45_46CC>AT	c.(43-48)atCCag>atATag	p.Q16*	MCTS1_ENST00000487133.1_3'UTR|MCTS1_ENST00000371315.3_Nonsense_Mutation_p.Q17*	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	16					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						CCAACTGCATCCAGTTGAAAAC	0.337																																																0																																										SO:0001587	stop_gained	28985			AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	Exception_encountered	chrX.hg19:g.119739295_119739296delinsAT	ENSP00000360367:p.Gln16*		B4DGY2|Q502X6	Silent|Nonsense_Mutation	SNP	ENST00000371317.5	hg19	CCDS14601.1																																																																																				0.337	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1	NM_014060		AT	119739296	CC	AT	119739295	4	1	451	1	0	0	0	0	0	1	0	0	9404	845	30	4	69	4	MCTS1	23	119739295	Nonsense_Mutation	DNP	CC	TCGA-BQ-5875-01A-11D-1589-08	3	119739295	35531265	65	24654	190	2									
STAG2	10735	hgsc.bcm.edu	37	X	123184115	123184118	+	Frame_Shift_Del	DEL	AATG	AATG	-			TCGA-BQ-5875-01A-11D-1589-08	TCGA-BQ-5875-11A-01D-1589-08	AATG	AATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1f52ff0c-1578-4669-ad59-9130f5d4d0e6	f76f9283-5634-45e1-a751-f3275a7a0d7e	g.chrX:123184115_123184118delAATG	ENST00000371160.1	+	11	1263_1266	c.973_976delAATG	c.(973-978)aatgacfs	p.ND325fs	STAG2_ENST00000371145.3_Frame_Shift_Del_p.ND325fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.ND256fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.ND325fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.ND325fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.ND325fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	325	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGCCTTTCTTAATGACAGTTATTT	0.412																																																0																																										SO:0001589	frameshift_variant	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.973_976delAATG	chrX.hg19:g.123184115_123184118delAATG	ENSP00000360202:p.Asn325fs		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	hg19	CCDS14607.1																																																																																				0.412	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		-	123184118	AATG	-	123184115	7	5	451	1	0	1	0	1	0	0	0	0	15248	362	13	0	1007	0	STAG2	23	123184115	Frame_Shift_Del	DEL	AATG	TCGA-BQ-5875-01A-11D-1589-08	3444820	123184115	32086445	66	24655											
VPS13D	55187	hgsc.bcm.edu	37	1	12327038	12327038	+	Silent	SNP	T	T	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:12327038T>C	ENST00000358136.3	+	14	1825	c.1695T>C	c.(1693-1695)acT>acC	p.T565T	VPS13D_ENST00000356315.4_Silent_p.T565T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGAAGGAACTATGTTTCCTC	0.408																																																0													124	114	117					1																	12327038		2203	4300	6503	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1695T>C	chr1.hg19:g.12327038T>C				Silent	SNP	ENST00000358136.3	hg19	CCDS30588.1																																																																																				0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		C	12327038	T	C	12327038	2	2	452	1	0	0	0	0	0	0	0	1	17197	1509	53	3		3	VPS13D	1	12327038	Silent	SNP	T	TCGA-BQ-5876-01A-11D-1589-08		12327038	236923583	1	24656											
FAM73A	374986	hgsc.bcm.edu	37	1	78325733	78325733	+	Silent	SNP	T	T	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:78325733T>C	ENST00000370791.3	+	11	1229	c.1197T>C	c.(1195-1197)ctT>ctC	p.L399L	FAM73A_ENST00000443751.2_Silent_p.L361L	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	399						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGGTAATTCTTTCAGAATCAG	0.343																																																0													43	44	44					1																	78325733		2203	4300	6503	SO:0001819	synonymous_variant	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1197T>C	chr1.hg19:g.78325733T>C			Q6MZG0	Silent	SNP	ENST00000370791.3	hg19	CCDS681.1																																																																																				0.343	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		C	78325733	T	C	78325733	2	2	452	1	0	0	0	0	0	0	0	1	5619	1828	64	3		3	FAM73A	1	78325733	Silent	SNP	T	TCGA-BQ-5876-01A-11D-1589-08	65998695	78325733	170924888	2	24657											
LRRC8D	55144	hgsc.bcm.edu	37	1	90399406	90399406	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:90399406A>T	ENST00000337338.5	+	3	1186	c.779A>T	c.(778-780)aAa>aTa	p.K260I	LRRC8D_ENST00000394593.3_Missense_Mutation_p.K260I	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	260					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ACTGGCTTTAAATTTTCAGCT	0.458																																																0													44	42	43					1																	90399406		2203	4300	6503	SO:0001583	missense	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.779A>T	chr1.hg19:g.90399406A>T	ENSP00000338887:p.Lys260Ile		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	hg19	CCDS726.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.464588	0.43736	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000441269	T;T;T	0.49432	1.35;1.35;0.78	5.88	5.88	0.94601	.	0.111169	0.64402	D	0.000017	T	0.30070	0.0753	L	0.36672	1.1	0.48696	D	0.99969	P	0.40376	0.715	B	0.42062	0.374	T	0.07121	-1.0789	9	.	.	.	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	260	Q7L1W4	LRC8D_HUMAN	I	260	ENSP00000338887:K260I;ENSP00000378093:K260I;ENSP00000405784:K260I	.	K	+	2	0	LRRC8D	90171994	1.000000	0.71417	0.980000	0.43619	0.959000	0.62525	4.701000	0.61810	2.246000	0.74042	0.533000	0.62120	AAA		0.458	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		T	90399406	A	T	90399406	3	4	452	1	0	0	0	0	1	0	0	0	9026	14	1	5	781	5	LRRC8D	1	90399406	Missense_Mutation	SNP	A	TCGA-BQ-5876-01A-11D-1589-08	12073673	90399406	158851215	3	24658											
DNTTIP2	30836	hgsc.bcm.edu	37	1	94342829	94342829	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:94342829A>C	ENST00000436063.2	-	2	719	c.662T>G	c.(661-663)aTt>aGt	p.I221S	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCCTGGTACAATCTTACTATC	0.393																																																0													157	156	157					1																	94342829		1874	4097	5971	SO:0001583	missense	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.662T>G	chr1.hg19:g.94342829A>C	ENSP00000411010:p.Ile221Ser		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	hg19	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	A	7.865	0.726984	0.15439	.	.	ENSG00000067334	ENST00000436063	T	0.16743	2.32	4.97	-4.84	0.03151	.	1.525530	0.03836	N	0.269774	T	0.04998	0.0134	L	0.56769	1.78	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.45308	-0.9270	10	0.72032	D	0.01	.	0.8184	0.01107	0.315:0.2126:0.2868:0.1855	.	221	Q5QJE6	TDIF2_HUMAN	S	221	ENSP00000411010:I221S	ENSP00000352137:I221S	I	-	2	0	DNTTIP2	94115417	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	0.416000	0.21198	-0.444000	0.07170	0.533000	0.62120	ATT		0.393	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		C	94342829	A	C	94342829	3	2	452	1	0	0	0	0	1	0	0	0	4684	101	4	5	1632	5	DNTTIP2	1	94342829	Missense_Mutation	SNP	A	TCGA-BQ-5876-01A-11D-1589-08	3943423	94342829	154907792	4	24659											
SASS6	163786	hgsc.bcm.edu	37	1	100572514	100572514	+	Silent	SNP	A	A	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:100572514A>C	ENST00000287482.5	-	12	1502	c.1362T>G	c.(1360-1362)gtT>gtG	p.V454V	SASS6_ENST00000535161.1_Silent_p.V287V|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	454					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CAAGTTTTTTAACTGTAGCTT	0.249																																																0													68	68	68					1																	100572514		2189	4293	6482	SO:0001819	synonymous_variant	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1362T>G	chr1.hg19:g.100572514A>C			D3DT55|Q8N3K0	Silent	SNP	ENST00000287482.5	hg19	CCDS764.1																																																																																				0.249	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		C	100572514	A	C	100572514	2	2	452	1	0	0	0	0	0	0	0	1	13856	349	13	5		5	SASS6	1	100572514	Silent	SNP	A	TCGA-BQ-5876-01A-11D-1589-08	6229685	100572514	148678107	5	24660											
HORMAD1	84072	hgsc.bcm.edu	37	1	150679129	150679129	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:150679129T>A	ENST00000361824.2	-	10	809	c.704A>T	c.(703-705)aAt>aTt	p.N235I	HORMAD1_ENST00000368993.2_Missense_Mutation_p.N235I|HORMAD1_ENST00000368995.4_Missense_Mutation_p.N155I|HORMAD1_ENST00000322343.7_Missense_Mutation_p.N228I	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	235					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGTCAATATTTTCCATTCG	0.343																																																0													202	191	195					1																	150679129		2203	4300	6503	SO:0001583	missense	84072			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.704A>T	chr1.hg19:g.150679129T>A	ENSP00000355167:p.Asn235Ile		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	hg19	CCDS967.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617697	0.66787	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987;ENST00000442853	T;T;T;T	0.47177	0.85;1.42;1.43;1.42	5.48	4.34	0.51931	.	0.219611	0.53938	D	0.000043	T	0.38188	0.1031	L	0.32530	0.975	0.28943	N	0.890864	D;D;D	0.71674	0.998;0.988;0.964	D;P;P	0.65010	0.931;0.878;0.65	T	0.28004	-1.0057	10	0.72032	D	0.01	-12.6203	7.2033	0.25893	0.0:0.2218:0.0:0.7781	.	155;228;235	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	I	155;235;164;155;228;235;164;157	ENSP00000357991:N155I;ENSP00000357989:N235I;ENSP00000326489:N228I;ENSP00000355167:N235I	ENSP00000326489:N228I	N	-	2	0	HORMAD1	148945753	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	1.692000	0.37731	2.092000	0.63282	0.383000	0.25322	AAT		0.343	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		A	150679129	T	A	150679129	3	1	452	1	0	0	0	0	1	0	0	0	7288	1493	52	5	504	5	HORMAD1	1	150679129	Missense_Mutation	SNP	T	TCGA-BQ-5876-01A-11D-1589-08	50106615	150679129	98571492	6	24661											
CREG1	8804	hgsc.bcm.edu	37	1	167515357	167515357	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:167515357A>G	ENST00000370509.4	-	3	665	c.640T>C	c.(640-642)Tat>Cat	p.Y214H	CREG1_ENST00000466652.1_5'UTR	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	214					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|transcription factor complex (GO:0005667)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)|transcription corepressor activity (GO:0003714)										ACATTATAATATTCTTCTGGT	0.438																																																0													70	73	72					1																	167515357		2203	4300	6503	SO:0001583	missense	8804			AF084523	CCDS1262.1	1q24	2008-02-05	2004-09-22	2004-09-22	ENSG00000143162	ENSG00000143162			2351	protein-coding gene	gene with protein product			"cellular repressor of E1A-stimulated genes"	CREG		9710587	Standard	NM_003851		Approved		uc001gel.3	O75629	OTTHUMG00000034682	ENST00000370509.4:c.640T>C	chr1.hg19:g.167515357A>G	ENSP00000359540:p.Tyr214His		B2RDD4|Q8N9A3	Missense_Mutation	SNP	ENST00000370509.4	hg19	CCDS1262.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891151	0.72524	.	.	ENSG00000143162	ENST00000370509	.	.	.	5.86	5.86	0.93980	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	D	0.83326	0.5230	M	0.91818	3.245	0.53005	D	0.999968	D	0.89917	1.0	D	0.97110	1.0	D	0.87426	0.2385	8	0.87932	D	0	-7.3711	16.2453	0.82441	1.0:0.0:0.0:0.0	.	214	O75629	CREG1_HUMAN	H	214	.	ENSP00000359540:Y214H	Y	-	1	0	CREG1	165781981	1.000000	0.71417	0.810000	0.32431	0.581000	0.36288	8.428000	0.90278	2.241000	0.73720	0.533000	0.62120	TAT		0.438	CREG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083911.1	NM_003851		G	167515357	A	G	167515357	3	3	452	1	0	0	0	0	1	0	0	0	3866	449	16	3	30	3	CREG1	1	167515357	Missense_Mutation	SNP	A	TCGA-BQ-5876-01A-11D-1589-08	16836228	167515357	81735264	7	24662											
HMCN1	83872	hgsc.bcm.edu	37	1	185984290	185984290	+	Splice_Site	SNP	G	G	A	rs568290303	byFrequency	TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:185984290G>A	ENST00000271588.4	+	31	4859		c.e31-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCCTTTGTAGTTCCACCTAG	0.338																																																0													72	71	71					1																	185984290		2203	4299	6502	SO:0001630	splice_region_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4631-1G>A	chr1.hg19:g.185984290G>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501313	0.85176	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1551	0.93507	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184250913	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	8.911000	0.92721	2.583000	0.87209	0.557000	0.71058	.		0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	A	185984290	G	A	185984290	5	1	452	1	0	0	0	0	0	0	1	0	7222	1043	36	2	4752	2	HMCN1	1	185984290	Splice_Site	SNP	G	TCGA-BQ-5876-01A-11D-1589-08	18468933	185984290	63266331	8	24663											
ASAP2	8853	hgsc.bcm.edu	37	2	9533671	9533671	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:9533671T>C	ENST00000281419.3	+	24	2919	c.2579T>C	c.(2578-2580)tTg>tCg	p.L860S	ASAP2_ENST00000315273.4_Missense_Mutation_p.L815S|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	860	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATGGAAGCCTTGAGCCAGCCG	0.701																																																0													13	15	14					2																	9533671		2199	4294	6493	SO:0001583	missense	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2579T>C	chr2.hg19:g.9533671T>C	ENSP00000281419:p.Leu860Ser		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	hg19	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.260257	0.23051	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.58506	0.42;0.33	5.36	5.36	0.76844	Src homology-3 domain (1);	4.673060	0.00166	N	0.000005	T	0.67702	0.2921	N	0.19112	0.55	0.35637	D	0.81066	D;B	0.69078	0.997;0.011	D;B	0.75484	0.986;0.01	T	0.56956	-0.7893	10	0.18710	T	0.47	.	15.3426	0.74309	0.0:0.0:0.0:1.0	.	815;860	O43150-2;O43150	.;ASAP2_HUMAN	S	860;815	ENSP00000281419:L860S;ENSP00000316404:L815S	ENSP00000281419:L860S	L	+	2	0	ASAP2	9451122	1.000000	0.71417	0.799000	0.32177	0.419000	0.31324	4.442000	0.59988	2.034000	0.60081	0.379000	0.24179	TTG		0.701	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		C	9533671	T	C	9533671	3	2	452	1	0	0	0	0	1	0	0	0	1011	1821	63	3	2673	3	ASAP2	2	9533671	Missense_Mutation	SNP	T	TCGA-BQ-5876-01A-11D-1589-08		9533671	233665702	9	24664											
NRBP1	29959	hgsc.bcm.edu	37	2	27664588	27664588	+	Missense_Mutation	SNP	G	G	A	rs141700147	byFrequency	TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:27664588G>A	ENST00000233557.3	+	19	2349	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.R506Q|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank|NRBP1_ENST00000379863.3_Missense_Mutation_p.R514Q			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	506					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.R506Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GACCAGAGCCGGTTGACTTCT	0.547													G|||	6	0.00119808	0.0045	0.0	5008	,	,		18142	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	large_intestine(1)						G	GLN/ARG	4,4402	9.9+/-24.2	0,4,2199	179	183	182		1517	5.7	1	2	dbSNP_134	182	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NRBP1	NM_013392.2	43	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	possibly-damaging	506/536	27664588	5,13001	2203	4300	6503	SO:0001583	missense	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1517G>A	chr2.hg19:g.27664588G>A	ENSP00000233557:p.Arg506Gln		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	hg19	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944186	0.73672	9.08E-4	1.16E-4	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.14022	2.84;2.84;2.54	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	L	0.43152	1.355	0.58432	D	0.999999	B;B;B	0.32302	0.363;0.239;0.154	B;B;B	0.24701	0.022;0.055;0.025	T	0.02093	-1.1215	10	0.45353	T	0.12	-8.6676	18.2912	0.90131	0.0:0.0:1.0:0.0	.	486;514;506	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	Q	506;486;506;514	ENSP00000233557:R506Q;ENSP00000369181:R506Q;ENSP00000369192:R514Q	ENSP00000233557:R506Q	R	+	2	0	NRBP1	27518092	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	6.787000	0.75099	2.662000	0.90505	0.561000	0.74099	CGG		0.547	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		A	27664588	G	A	27664588	3	1	452	1	0	0	0	0	1	0	0	0	10644	1116	39	1	1583	1	NRBP1	2	27664588	Missense_Mutation	SNP	G	TCGA-BQ-5876-01A-11D-1589-08	18130917	27664588	215534785	10	24665											
SLC8A1	6546	hgsc.bcm.edu	37	2	40656328	40656328	+	Missense_Mutation	SNP	G	G	T	rs370199920		TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:40656328G>T	ENST00000403092.1	-	2	1126	c.1093C>A	c.(1093-1095)Cgc>Agc	p.R365S	SLC8A1_ENST00000402441.1_Missense_Mutation_p.R365S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R365S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R365S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R365S|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R365S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R365S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R365S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R365S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R365S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	365					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTTGAATGCGATAAAATGCT	0.433																																																0													165	157	160					2																	40656328		2203	4300	6503	SO:0001583	missense	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1093C>A	chr2.hg19:g.40656328G>T	ENSP00000384763:p.Arg365Ser		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	hg19	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509948	0.64522	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.53857	0.65;0.68;0.67;0.68;0.65;0.65;0.67;0.6;0.65;0.64	6.17	5.29	0.74685	Heat shock protein DnaJ, N-terminal (1);	0.049164	0.85682	D	0.000000	T	0.78233	0.4251	M	0.91663	3.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;1.0;0.996;1.0	D	0.83814	0.0243	10	0.87932	D	0	.	14.9877	0.71362	0.0:0.0:0.857:0.143	.	365;365;365;365;365	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	S	365	ENSP00000383886:R365S;ENSP00000440727:R365S;ENSP00000384763:R365S;ENSP00000385678:R365S;ENSP00000385188:R365S;ENSP00000385535:R365S;ENSP00000332931:R365S;ENSP00000384908:R365S;ENSP00000385811:R365S;ENSP00000443515:R365S	ENSP00000332931:R365S	R	-	1	0	SLC8A1	40509832	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.812000	0.86109	1.600000	0.50102	0.655000	0.94253	CGC		0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		T	40656328	G	T	40656328	3	4	452	1	0	0	0	0	1	0	0	0	14712	1058	37	4	1976	4	SLC8A1	2	40656328	Missense_Mutation	SNP	G	TCGA-BQ-5876-01A-11D-1589-08	12991740	40656328	202543045	11	24666											
MSH6	2956	hgsc.bcm.edu	37	2	48027125	48027125	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:48027125C>G	ENST00000234420.5	+	4	2155	c.2003C>G	c.(2002-2004)tCc>tGc	p.S668C	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.S538C|MSH6_ENST00000538136.1_Missense_Mutation_p.S366C	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	668					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)			GAGTCTGATTCCATTGGGTTG	0.433			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													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)											152	146	148					2																	48027125		2203	4300	6503	SO:0001583	missense	2956	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.2003C>G	chr2.hg19:g.48027125C>G	ENSP00000234420:p.Ser668Cys		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	hg19	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735857	0.49045	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.88664	-2.04;-2.12;-2.41	4.8	3.92	0.45320	DNA mismatch repair protein MutS, connector (1);	0.361706	0.32518	N	0.005990	D	0.93112	0.7807	M	0.76574	2.34	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.976	D;D;P	0.67231	0.95;0.95;0.738	D	0.93502	0.6845	10	0.72032	D	0.01	-2.7325	12.8528	0.57867	0.0:0.9212:0.0:0.0788	.	538;668;668	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	C	668;666;538;366	ENSP00000234420:S668C;ENSP00000446475:S538C;ENSP00000438580:S366C	ENSP00000234420:S668C	S	+	2	0	MSH6	47880629	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	5.875000	0.69660	1.243000	0.43853	0.460000	0.39030	TCC		0.433	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		G	48027125	C	G	48027125	3	3	452	1	0	0	0	0	1	0	0	0	9876	855	30	4	2017	4	MSH6	2	48027125	Missense_Mutation	SNP	C	TCGA-BQ-5876-01A-11D-1589-08	7370797	48027125	195172248	12	24667											
TCF7L1	83439	hgsc.bcm.edu	37	2	85536242	85536242	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:85536242T>C	ENST00000282111.3	+	12	1699	c.1424T>C	c.(1423-1425)aTg>aCg	p.M475T		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	475					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CACGGGAGCATGCTGGACTCC	0.652																																																0													93	102	99					2																	85536242		2203	4300	6503	SO:0001583	missense	83439			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1424T>C	chr2.hg19:g.85536242T>C	ENSP00000282111:p.Met475Thr		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	hg19	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097296	0.56075	.	.	ENSG00000152284	ENST00000282111	T	0.34072	1.38	5.11	0.36	0.16097	.	0.117117	0.85682	N	0.000000	T	0.37972	0.1023	L	0.54323	1.7	0.29754	N	0.836071	P	0.50156	0.932	P	0.58391	0.838	T	0.35301	-0.9794	10	0.13108	T	0.6	.	3.6615	0.08240	0.1572:0.2705:0.0:0.5722	.	475	Q9HCS4	TF7L1_HUMAN	T	475	ENSP00000282111:M475T	ENSP00000282111:M475T	M	+	2	0	TCF7L1	85389753	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.286000	0.43496	-0.075000	0.12798	0.448000	0.29417	ATG		0.652	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		C	85536242	T	C	85536242	3	2	452	1	0	0	0	0	1	0	0	0	15702	1464	51	3	1470	3	TCF7L1	2	85536242	Missense_Mutation	SNP	T	TCGA-BQ-5876-01A-11D-1589-08	37509117	85536242	157663131	13	24668											
EIF5B	9669	hgsc.bcm.edu	37	2	100015354	100015354	+	Silent	SNP	A	A	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:100015354A>C	ENST00000289371.6	+	23	3739	c.3537A>C	c.(3535-3537)acA>acC	p.T1179T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1179					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGAAGCTACAGATATTCTTG	0.398																																					Colon(162;2388 2567 2705 3444)											0													70	64	66					2																	100015354		1859	4090	5949	SO:0001819	synonymous_variant	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3537A>C	chr2.hg19:g.100015354A>C			O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	ENST00000289371.6	hg19	CCDS42721.1																																																																																				0.398	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		C	100015354	A	C	100015354	2	2	452	1	0	0	0	0	0	0	0	1	5046	175	7	5		5	EIF5B	2	100015354	Silent	SNP	A	TCGA-BQ-5876-01A-11D-1589-08	14479112	100015354	143184019	14	24669											
WDR33	55339	hgsc.bcm.edu	37	2	128484249	128484249	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:128484249delT	ENST00000322313.4	-	8	985	c.827delA	c.(826-828)aagfs	p.K276fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	276					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGCCCAGTCTTGGGATCCCA	0.468																																																0													154	153	153					2																	128484249		2203	4300	6503	SO:0001589	frameshift_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.827delA	chr2.hg19:g.128484249delT	ENSP00000325377:p.Lys276fs		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Del	DEL	ENST00000322313.4	hg19	CCDS2150.1																																																																																				0.468	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		-	128484249	T	-	128484249	7	5	452	1	0	1	0	1	0	0	0	0	17292	1609	56	0	3243	0	WDR33	2	128484249	Frame_Shift_Del	DEL	T	TCGA-BQ-5876-01A-11D-1589-08	28468895	128484249	114715124	15	24670											
CXCR4	7852	hgsc.bcm.edu	37	2	136873381	136873381	+	Silent	SNP	G	G	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:136873381G>T	ENST00000241393.3	-	2	221	c.117C>A	c.(115-117)atC>atA	p.I39I	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Silent_p.I43I	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	39					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TGGGCAGGAAGATTTTATTGA	0.438																																																0													128	129	128					2																	136873381		2203	4300	6503	SO:0001819	synonymous_variant	7852			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.117C>A	chr2.hg19:g.136873381G>T			B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Silent	SNP	ENST00000241393.3	hg19	CCDS46420.1																																																																																				0.438	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			T	136873381	G	T	136873381	2	4	452	1	0	0	0	0	0	0	0	1	4095	932	33	4		4	CXCR4	2	136873381	Silent	SNP	G	TCGA-BQ-5876-01A-11D-1589-08	8389132	136873381	106325992	16	24671											
DNAH7	56171	hgsc.bcm.edu	37	2	196749321	196749321	+	Silent	SNP	T	T	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:196749321T>C	ENST00000312428.6	-	35	5851	c.5751A>G	c.(5749-5751)caA>caG	p.Q1917Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1917					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGTGACAAATTGATAATCAT	0.433																																																0													77	75	76					2																	196749321		1911	4123	6034	SO:0001819	synonymous_variant	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5751A>G	chr2.hg19:g.196749321T>C			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	hg19	CCDS42794.1																																																																																				0.433	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		C	196749321	T	C	196749321	2	2	452	1	0	0	0	0	0	0	0	1	4608	1490	52	3		3	DNAH7	2	196749321	Silent	SNP	T	TCGA-BQ-5876-01A-11D-1589-08	59875940	196749321	46450052	17	24672											
ERBB4	2066	hgsc.bcm.edu	37	2	212426810	212426810	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:212426810C>A	ENST00000342788.4	-	20	2615	c.2305G>T	c.(2305-2307)Gct>Tct	p.A769S	ERBB4_ENST00000436443.1_Missense_Mutation_p.A769S|ERBB4_ENST00000402597.1_Missense_Mutation_p.A759S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATGATCAGAGCTTCCTGTAAG	0.403										TSP Lung(8;0.080)																																						0													81	75	77					2																	212426810		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2305G>T	chr2.hg19:g.212426810C>A	ENSP00000342235:p.Ala769Ser		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	hg19	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153661	0.94645	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.64085	-0.08;-0.08;-0.08	5.36	5.36	0.76844	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	M	0.82517	2.595	0.80722	D	1	D;P;D;D	0.76494	0.999;0.738;0.999;0.999	D;D;D;D	0.91635	0.999;0.911;0.998;0.999	D	0.83933	0.0307	10	0.72032	D	0.01	.	19.4633	0.94927	0.0:1.0:0.0:0.0	.	759;759;769;769	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	S	769;769;759	ENSP00000342235:A769S;ENSP00000403204:A769S;ENSP00000385565:A759S	ENSP00000342235:A769S	A	-	1	0	ERBB4	212135055	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.776000	0.85560	2.666000	0.90696	0.655000	0.94253	GCT		0.403	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		A	212426810	C	A	212426810	3	1	452	1	0	0	0	0	1	0	0	0	5211	797	28	4	1657	4	ERBB4	2	212426810	Missense_Mutation	SNP	C	TCGA-BQ-5876-01A-11D-1589-08	15677489	212426810	30772563	18	24673											
FBXO45	200933	hgsc.bcm.edu	37	3	196304554	196304554	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr3:196304554A>T	ENST00000311630.6	+	2	846	c.549A>T	c.(547-549)caA>caT	p.Q183H	FBXO45_ENST00000440469.1_Missense_Mutation_p.Q4H	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	183	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGCAGTGCCAAGGTTATGTGG	0.547																																																0													48	49	49					3																	196304554		1953	4148	6101	SO:0001583	missense	200933			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"F-boxes /  "other""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.549A>T	chr3.hg19:g.196304554A>T	ENSP00000310332:p.Gln183His		A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	hg19	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	A	9.264	1.043862	0.19748	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	T;T	0.60171	0.21;0.21	4.95	2.42	0.29668	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.052694	0.85682	N	0.000000	T	0.25754	0.0627	N	0.01789	-0.72	0.54753	D	0.999983	B	0.11235	0.004	B	0.12156	0.007	T	0.02450	-1.1157	10	0.25106	T	0.35	-22.4406	6.7957	0.23725	0.6401:0.0:0.3599:0.0	.	183	P0C2W1	FBSP1_HUMAN	H	4;183	ENSP00000389868:Q4H;ENSP00000310332:Q183H	ENSP00000310332:Q183H	Q	+	3	2	FBXO45	197788951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.363000	0.52321	0.403000	0.25479	0.374000	0.22700	CAA		0.547	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2			T	196304554	A	T	196304554	3	4	452	1	0	0	0	0	1	0	0	0	5756	69	3	5	555	5	FBXO45	3	196304554	Missense_Mutation	SNP	A	TCGA-BQ-5876-01A-11D-1589-08		196304554	1717876	19	24674											
MYO10	4651	hgsc.bcm.edu	37	5	16764479	16764479	+	Silent	SNP	G	G	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:16764479G>T	ENST00000513610.1	-	12	1660	c.1206C>A	c.(1204-1206)gcC>gcA	p.A402A		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	402	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ACAGAGCCATGGCCAGGGAGT	0.547																																																0													107	103	105					5																	16764479		2098	4241	6339	SO:0001819	synonymous_variant	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1206C>A	chr5.hg19:g.16764479G>T			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	hg19	CCDS54834.1																																																																																				0.547	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16764479	G	T	16764479	2	4	452	1	0	0	0	0	0	0	0	1	10064	1335	47	4		4	MYO10	5	16764479	Silent	SNP	G	TCGA-BQ-5876-01A-11D-1589-08		16764479	164150781	20	24675											
SPEF2	79925	hgsc.bcm.edu	37	5	35771741	35771743	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:35771741_35771743delGAA	ENST00000356031.3	+	27	3986_3988	c.3832_3834delGAA	c.(3832-3834)gaadel	p.E1280del	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_In_Frame_Del_p.E1275del	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1280					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGGCTTATGGAAGAAGAAAAAG	0.399																																																0																																										SO:0001651	inframe_deletion	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3832_3834delGAA	chr5.hg19:g.35771747_35771749delGAA	ENSP00000348314:p.Glu1280del		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	In_Frame_Del	DEL	ENST00000356031.3	hg19	CCDS43309.1																																																																																				0.399	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		-	35771743	GAA	-	35771741	7	5	452	1	0	1	0	1	0	0	0	0	15040	1175	41	0	3959	0	SPEF2	5	35771741	In_Frame_Del	DEL	GAA	TCGA-BQ-5876-01A-11D-1589-08	19007262	35771741	145143519	21	24676											
PARP8	79668	hgsc.bcm.edu	37	5	50137860	50137860	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:50137860A>T	ENST00000281631.5	+	26	2681	c.2523A>T	c.(2521-2523)aaA>aaT	p.K841N	PARP8_ENST00000505554.1_Missense_Mutation_p.K820N|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.K841N|PARP8_ENST00000514067.2_Missense_Mutation_p.K799N|PARP8_ENST00000503750.2_Missense_Mutation_p.K799N	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	841	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCATTCACAAAGAGATCCTCC	0.358																																																0													86	82	83					5																	50137860		2203	4300	6503	SO:0001583	missense	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2523A>T	chr5.hg19:g.50137860A>T	ENSP00000281631:p.Lys841Asn		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	hg19	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.855481	0.51376	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	6.08	3.7	0.42460	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.058378	0.64402	D	0.000002	T	0.41465	0.1160	L	0.44542	1.39	0.80722	D	1	P;B;B	0.37781	0.608;0.447;0.319	B;B;B	0.35114	0.193;0.196;0.096	T	0.12941	-1.0528	8	.	.	.	-15.5759	10.485	0.44717	0.8695:0.0:0.1305:0.0	.	733;799;841	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	N	841;799;841;799;820	.	.	K	+	3	2	PARP8	50173617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.471000	0.45127	0.545000	0.28902	-0.256000	0.11100	AAA		0.358	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		T	50137860	A	T	50137860	3	4	452	1	0	0	0	0	1	0	0	0	11467	69	3	5	2625	5	PARP8	5	50137860	Missense_Mutation	SNP	A	TCGA-BQ-5876-01A-11D-1589-08	14366119	50137860	130777400	22	24677											
GPR98	84059	hgsc.bcm.edu	37	5	89989974	89989974	+	Silent	SNP	A	A	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:89989974A>T	ENST00000405460.2	+	33	7497	c.7401A>T	c.(7399-7401)acA>acT	p.T2467T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2467	Calx-beta 17. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGGATGACATCATGGATCA	0.488																																																0													67	66	66					5																	89989974		1926	4127	6053	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7401A>T	chr5.hg19:g.89989974A>T			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	9.244	1.039019	0.19669	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.92	-3.15	0.05233	.	.	.	.	.	T	0.36908	0.0984	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35968	-0.9767	4	.	.	.	.	1.1269	0.01736	0.4642:0.1847:0.1714:0.1797	.	.	.	.	L	33	.	.	H	+	2	0	GPR98	90025730	0.645000	0.27286	0.979000	0.43373	0.943000	0.58893	-0.090000	0.11163	-0.108000	0.12066	0.533000	0.62120	CAT		0.488	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89989974	A	T	89989974	2	4	452	1	0	0	0	0	0	0	0	1	6723	204	8	5		5	GPR98	5	89989974	Silent	SNP	A	TCGA-BQ-5876-01A-11D-1589-08	39852114	89989974	90925286	23	24678											
TRIM41	90933	hgsc.bcm.edu	37	5	180661231	180661232	+	Frame_Shift_Ins	INS	-	-	C	rs138245799		TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:180661231_180661232insC	ENST00000315073.5	+	6	2059_2060	c.1349_1350insC	c.(1348-1353)cgccggfs	p.R451fs	TRIM41_ENST00000351937.5_Frame_Shift_Ins_p.R451fs|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	451	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCTGACCGCCGGGGGGTCC	0.698																																																0																																										SO:0001589	frameshift_variant	90933			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1351dupC	chr5.hg19:g.180661233_180661233dupC	ENSP00000320869:p.Arg451fs		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Frame_Shift_Ins	INS	ENST00000315073.5	hg19	CCDS4466.1																																																																																				0.698	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		C	180661232	-	C	180661231	7	5	452	1	0	1	1	0	0	0	0	0	16521	1087	38	0	1371	0	TRIM41	5	180661231	Frame_Shift_Ins	INS	-	TCGA-BQ-5876-01A-11D-1589-08	90671257	180661231	254029	24	24679											
CRIP3	401262	hgsc.bcm.edu	37	6	43275360	43275360	+	Silent	SNP	T	T	C	rs568254475		TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr6:43275360T>C	ENST00000274990.4	-	4	322	c.318A>G	c.(316-318)caA>caG	p.Q106Q	CRIP3_ENST00000372569.3_Silent_p.Q106Q|ZNF318_ENST00000607252.1_5'UTR			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	106					T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TTTTCTTGCCTTGGGGGAGGC	0.642													T|||	1	0.000199681	0.0	0.0	5008	,	,		16423	0.0		0.0	False		,,,				2504	0.001															0													44	50	48					6																	43275360		2203	4300	6503	SO:0001819	synonymous_variant	401262			AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.318A>G	chr6.hg19:g.43275360T>C			A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Silent	SNP	ENST00000274990.4	hg19		.	.	.	.	.	.	.	.	.	.	T	3.522	-0.097611	0.07010	.	.	ENSG00000146215	ENST00000416431	.	.	.	5.28	-4.75	0.03239	.	.	.	.	.	T	0.06735	0.0172	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34054	-0.9844	4	.	.	.	0.0414	3.3614	0.07188	0.1112:0.4248:0.1114:0.3527	.	.	.	.	G	54	.	.	R	-	1	2	CRIP3	43383338	0.138000	0.22547	0.008000	0.14137	0.650000	0.38633	-0.340000	0.07821	-0.788000	0.04504	0.533000	0.62120	AGG		0.642	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1			C	43275360	T	C	43275360	2	2	452	1	0	0	0	0	0	0	0	1	3878	1606	56	3		3	CRIP3	6	43275360	Silent	SNP	T	TCGA-BQ-5876-01A-11D-1589-08		43275360	127839707	25	24680											
OGFRL1	79627	hgsc.bcm.edu	37	6	72011098	72011098	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr6:72011098C>A	ENST00000370435.4	+	7	836	c.702C>A	c.(700-702)caC>caA	p.H234Q	RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	234						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GGTCCCAGCACAACTATTTAA	0.358																																																0													224	259	247					6																	72011098		2203	4299	6502	SO:0001583	missense	79627				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.702C>A	chr6.hg19:g.72011098C>A	ENSP00000359464:p.His234Gln		Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	hg19	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561728	0.65538	.	.	ENSG00000119900	ENST00000370435	T	0.67345	-0.26	5.94	4.16	0.48862	Opioid growth factor receptor (OGFr) conserved domain (1);	0.094242	0.85682	D	0.000000	T	0.74535	0.3729	M	0.83012	2.62	0.46749	D	0.999187	D	0.76494	0.999	D	0.68039	0.955	T	0.78663	-0.2116	10	0.87932	D	0	-12.2653	10.4706	0.44635	0.0:0.741:0.0:0.259	.	234	Q5TC84	OGRL1_HUMAN	Q	234	ENSP00000359464:H234Q	ENSP00000359464:H234Q	H	+	3	2	OGFRL1	72067819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.730000	0.47335	0.846000	0.35142	0.563000	0.77884	CAC		0.358	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		A	72011098	C	A	72011098	3	1	452	1	0	0	0	0	1	0	0	0	10846	477	17	4	728	4	OGFRL1	6	72011098	Missense_Mutation	SNP	C	TCGA-BQ-5876-01A-11D-1589-08	28735738	72011098	99103969	26	24681											
SYNE1	23345	hgsc.bcm.edu	37	6	152658075	152658075	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr6:152658075C>G	ENST00000367255.5	-	76	13030	c.12429G>C	c.(12427-12429)tgG>tgC	p.W4143C	SYNE1_ENST00000341594.5_Missense_Mutation_p.W4008C|SYNE1_ENST00000265368.4_Missense_Mutation_p.W4143C|SYNE1_ENST00000423061.1_Missense_Mutation_p.W4072C|SYNE1_ENST00000448038.1_Missense_Mutation_p.W4072C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4143					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGGTAAATCCAGAGCTCAG	0.458										HNSCC(10;0.0054)																																						0													109	99	102					6																	152658075		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12429G>C	chr6.hg19:g.152658075C>G	ENSP00000356224:p.Trp4143Cys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309305	0.40895	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.52754	0.74;0.7;0.65;0.7;0.73	5.47	5.47	0.80525	.	0.000000	0.56097	D	0.000036	T	0.50154	0.1599	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	P;P;P;P	0.59703	0.608;0.608;0.608;0.862	T	0.49513	-0.8932	10	0.44086	T	0.13	.	12.6398	0.56702	0.0:0.9245:0.0:0.0755	.	4143;4143;4143;4072	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	C	4143;4072;4143;4072;4008	ENSP00000356224:W4143C;ENSP00000396024:W4072C;ENSP00000265368:W4143C;ENSP00000390975:W4072C;ENSP00000341887:W4008C	ENSP00000265368:W4143C	W	-	3	0	SYNE1	152699768	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.774000	0.38573	2.572000	0.86782	0.655000	0.94253	TGG		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152658075	C	G	152658075	3	3	452	1	0	0	0	0	1	0	0	0	15450	856	30	4	14321	4	SYNE1	6	152658075	Missense_Mutation	SNP	C	TCGA-BQ-5876-01A-11D-1589-08	80646977	152658075	18456992	27	24682											
RNF216	54476	hgsc.bcm.edu	37	7	5781025	5781025	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr7:5781025A>G	ENST00000425013.2	-	4	676	c.452T>C	c.(451-453)cTg>cCg	p.L151P	RNF216_ENST00000389902.3_Missense_Mutation_p.L208P	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	151					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATTTGATAACAGCTCTGTCTC	0.458																																																0													172	174	174					7																	5781025		2203	4300	6503	SO:0001583	missense	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.452T>C	chr7.hg19:g.5781025A>G	ENSP00000404602:p.Leu151Pro		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	hg19	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515649	0.64634	.	.	ENSG00000011275	ENST00000425013;ENST00000389902	T;T	0.64803	-0.12;0.2	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000002	T	0.73737	0.3625	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.67548	0.952;0.916	T	0.75593	-0.3264	10	0.62326	D	0.03	-11.2668	13.8294	0.63370	1.0:0.0:0.0:0.0	.	151;208	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	P	151;208	ENSP00000404602:L151P;ENSP00000374552:L208P	ENSP00000374550:L151P	L	-	2	0	RNF216	5747551	1.000000	0.71417	0.836000	0.33094	0.819000	0.46315	3.643000	0.54374	2.289000	0.77006	0.459000	0.35465	CTG		0.458	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		G	5781025	A	G	5781025	3	3	452	1	0	0	0	0	1	0	0	0	13486	188	7	3	2204	3	RNF216	7	5781025	Missense_Mutation	SNP	A	TCGA-BQ-5876-01A-11D-1589-08		5781025	153357638	28	24683											
OR2A14	135941	hgsc.bcm.edu	37	7	143826220	143826220	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr7:143826220G>T	ENST00000408899.2	+	1	70	c.15G>T	c.(13-15)aaG>aaT	p.K5N		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AAGGCAACAAGACATGGATCA	0.498																																																0													80	77	78					7																	143826220		2034	4193	6227	SO:0001583	missense	135941				CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.15G>T	chr7.hg19:g.143826220G>T	ENSP00000386137:p.Lys5Asn		Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	hg19	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	G	8.070	0.770134	0.15983	.	.	ENSG00000221938	ENST00000408899	T	0.00348	8.0	4.18	4.18	0.49190	.	.	.	.	.	T	0.00144	0.0004	N	0.04320	-0.23	0.09310	N	1	B	0.23591	0.088	B	0.20184	0.028	T	0.50372	-0.8836	9	0.48119	T	0.1	-2.9556	12.1908	0.54270	0.0:0.0:1.0:0.0	.	5	Q96R47	O2A14_HUMAN	N	5	ENSP00000386137:K5N	ENSP00000386137:K5N	K	+	3	2	OR2A14	143457153	0.000000	0.05858	0.341000	0.25589	0.476000	0.33039	-0.561000	0.05957	2.303000	0.77524	0.561000	0.74099	AAG		0.498	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			T	143826220	G	T	143826220	3	4	452	1	0	0	0	0	1	0	0	0	10978	933	33	4	17	4	OR2A14	7	143826220	Missense_Mutation	SNP	G	TCGA-BQ-5876-01A-11D-1589-08	138045195	143826220	15312443	29	24684											
IFNA2	3440	hgsc.bcm.edu	37	9	21385064	21385067	+	Frame_Shift_Del	DEL	GATT	GATT	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	GATT	GATT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr9:21385064_21385067delGATT	ENST00000380206.2	-	1	329_332	c.262_265delAATC	c.(262-267)aatctcfs	p.NL88fs		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	88					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GTGCTGAAGAGATTGAAGATCTGC	0.49																																																0																																										SO:0001589	frameshift_variant	3440				CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"Interferons"	5423	protein-coding gene	gene with protein product	"alpha-2a interferon", "interferon alpha 2b", "interferon alpha A"	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.262_265delAATC	chr9.hg19:g.21385064_21385067delGATT	ENSP00000369554:p.Asn88fs		H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Frame_Shift_Del	DEL	ENST00000380206.2	hg19	CCDS6506.1																																																																																				0.49	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051903.1	NM_000605		-	21385067	GATT	-	21385064	7	5	452	1	0	1	0	1	0	0	0	0	7539	942	33	0	305	0	IFNA2	9	21385064	Frame_Shift_Del	DEL	GATT	TCGA-BQ-5876-01A-11D-1589-08		21385064	119828367	30	24685											
ENTPD7	57089	hgsc.bcm.edu	37	10	101460770	101460770	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr10:101460770T>G	ENST00000370489.4	+	11	1554	c.1376T>G	c.(1375-1377)tTc>tGc	p.F459C		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	459						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACTCAGAGATTCAAGAATGGC	0.433																																																0													361	321	334					10																	101460770		2203	4300	6503	SO:0001583	missense	57089			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1376T>G	chr10.hg19:g.101460770T>G	ENSP00000359520:p.Phe459Cys		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	hg19	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321910	0.81580	.	.	ENSG00000198018	ENST00000370489	T	0.12255	2.7	5.21	5.21	0.72293	.	0.056019	0.64402	D	0.000001	T	0.41282	0.1152	M	0.85197	2.74	0.53688	D	0.999977	D	0.76494	0.999	D	0.70935	0.971	T	0.42949	-0.9421	10	0.59425	D	0.04	-26.5929	14.9011	0.70681	0.0:0.0:0.0:1.0	.	459	Q9NQZ7	ENTP7_HUMAN	C	459	ENSP00000359520:F459C	ENSP00000359520:F459C	F	+	2	0	ENTPD7	101450760	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.860000	0.86993	2.192000	0.70111	0.523000	0.50628	TTC		0.433	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		G	101460770	T	G	101460770	3	3	452	1	0	0	0	0	1	0	0	0	5146	1783	62	5	1414	5	ENTPD7	10	101460770	Missense_Mutation	SNP	T	TCGA-BQ-5876-01A-11D-1589-08		101460770	34073977	31	24686											
DPF2	5977	hgsc.bcm.edu	37	11	65113198	65113198	+	Silent	SNP	G	G	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr11:65113198G>A	ENST00000528416.1	+	7	832	c.699G>A	c.(697-699)ttG>ttA	p.L233L	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Silent_p.L247L	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	233					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACTCCCACTTGGCTGAGGAGG	0.512																																																0													78	71	73					11																	65113198		2201	4297	6498	SO:0001819	synonymous_variant	5977			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.699G>A	chr11.hg19:g.65113198G>A			A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	hg19	CCDS8100.1																																																																																				0.512	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		A	65113198	G	A	65113198	2	1	452	1	0	0	0	0	0	0	0	1	4719	1339	47	2		2	DPF2	11	65113198	Silent	SNP	G	TCGA-BQ-5876-01A-11D-1589-08		65113198	69893318	32	24687											
SPTBN2	6712	hgsc.bcm.edu	37	11	66468283	66468283	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr11:66468283G>T	ENST00000533211.1	-	17	3618	c.3287C>A	c.(3286-3288)aCc>aAc	p.T1096N	SPTBN2_ENST00000309996.2_Missense_Mutation_p.T1096N|SPTBN2_ENST00000529997.1_Missense_Mutation_p.T1096N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1096					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCAGGCAGGGTGGCCGGCCC	0.692																																																0													16	18	17					11																	66468283		2193	4285	6478	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3287C>A	chr11.hg19:g.66468283G>T	ENSP00000432568:p.Thr1096Asn		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	hg19	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414677	0.62511	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.34275	1.37;1.37;1.37	4.7	4.7	0.59300	.	0.059484	0.64402	D	0.000001	T	0.20981	0.0505	N	0.12182	0.205	0.36280	D	0.855746	B	0.28026	0.198	B	0.28305	0.088	T	0.20075	-1.0286	10	0.27785	T	0.31	.	11.7357	0.51763	0.0:0.0:0.8233:0.1767	.	1096	O15020	SPTN2_HUMAN	N	1096	ENSP00000432568:T1096N;ENSP00000311489:T1096N;ENSP00000433593:T1096N	ENSP00000311489:T1096N	T	-	2	0	SPTBN2	66224859	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.377000	0.73145	2.446000	0.82766	0.491000	0.48974	ACC		0.692	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		T	66468283	G	T	66468283	3	4	452	1	0	0	0	0	1	0	0	0	15125	1261	44	4	3973	4	SPTBN2	11	66468283	Missense_Mutation	SNP	G	TCGA-BQ-5876-01A-11D-1589-08	1355085	66468283	68538233	33	24688											
PCF11	51585	hgsc.bcm.edu	37	11	82877600	82877600	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr11:82877600A>G	ENST00000298281.4	+	5	2113	c.1661A>G	c.(1660-1662)gAt>gGt	p.D554G		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	554					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATATTCGGGATCCAAGGCGA	0.423																																																0													80	76	77					11																	82877600		1873	4113	5986	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1661A>G	chr11.hg19:g.82877600A>G	ENSP00000298281:p.Asp554Gly		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007795	0.75046	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.56611	1.4;0.45;0.46	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000008	T	0.63189	0.2490	L	0.32530	0.975	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.94	T	0.60409	-0.7269	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	554;554	E9PQ01;O94913	.;PCF11_HUMAN	G	554	ENSP00000298281:D554G;ENSP00000434540:D554G;ENSP00000431567:D554G	.	D	+	2	0	PCF11	82555248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.615000	0.90920	2.326000	0.78906	0.533000	0.62120	GAT		0.423	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82877600	A	G	82877600	3	3	452	1	0	0	0	0	1	0	0	0	11575	333	12	3	1679	3	PCF11	11	82877600	Missense_Mutation	SNP	A	TCGA-BQ-5876-01A-11D-1589-08	16409317	82877600	52128916	34	24689											
SNX19	399979	hgsc.bcm.edu	37	11	130785820	130785820	+	Silent	SNP	T	T	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr11:130785820T>A	ENST00000265909.4	-	1	584	c.15A>T	c.(13-15)acA>acT	p.T5T	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Silent_p.T5T|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	5					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACGGTGGCACTGTTTCTGTCT	0.542																																																0													50	44	46					11																	130785820		2201	4297	6498	SO:0001819	synonymous_variant	399979			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.15A>T	chr11.hg19:g.130785820T>A			E9PKB9|Q8IV55	Silent	SNP	ENST00000265909.4	hg19	CCDS31721.1																																																																																				0.542	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		A	130785820	T	A	130785820	2	1	452	1	0	0	0	0	0	0	0	1	14896	1567	55	5		5	SNX19	11	130785820	Silent	SNP	T	TCGA-BQ-5876-01A-11D-1589-08	47908220	130785820	4220696	35	24690											
ATN1	1822	hgsc.bcm.edu	37	12	7045767	7045767	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr12:7045767C>A	ENST00000356654.4	+	5	1574	c.1337C>A	c.(1336-1338)cCt>cAt	p.P446H	ATN1_ENST00000396684.2_Missense_Mutation_p.P446H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	446	Poly-Pro.				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						CCACCACCTCCTCCCTATGGC	0.627																																																0													149	144	146					12																	7045767		2203	4300	6503	SO:0001583	missense	1822			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.1337C>A	chr12.hg19:g.7045767C>A	ENSP00000349076:p.Pro446His		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	hg19	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	12.53	1.964846	0.34659	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.55413	0.52;0.52;0.52	3.88	3.88	0.44766	.	.	.	.	.	T	0.63390	0.2507	L	0.40543	1.245	0.46416	D	0.999032	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	T	0.63721	-0.6573	9	0.38643	T	0.18	.	16.2396	0.82401	0.0:1.0:0.0:0.0	.	446;446	Q86V38;P54259	.;ATN1_HUMAN	H	446;446;446;31	ENSP00000349076:P446H;ENSP00000379915:P446H;ENSP00000441744:P446H	ENSP00000229279:P31H	P	+	2	0	ATN1	6916028	0.028000	0.19301	0.947000	0.38551	0.354000	0.29330	0.722000	0.25925	1.883000	0.54544	0.586000	0.80456	CCT		0.627	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		A	7045767	C	A	7045767	3	1	452	1	0	0	0	0	1	0	0	0	1111	681	24	4	1351	4	ATN1	12	7045767	Missense_Mutation	SNP	C	TCGA-BQ-5876-01A-11D-1589-08		7045767	126806128	36	24691											
PITPNM2	57605	hgsc.bcm.edu	37	12	123479959	123479959	+	Silent	SNP	C	C	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr12:123479959C>T	ENST00000542749.1	-	12	2094	c.2031G>A	c.(2029-2031)caG>caA	p.Q677Q	PITPNM2_ENST00000392428.1_Silent_p.Q398Q|PITPNM2_ENST00000280562.5_Silent_p.Q677Q|PITPNM2_ENST00000320201.4_Silent_p.Q677Q			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	677					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCTGGTGCTGCTGGATGGTAT	0.637																																																0													58	67	64					12																	123479959		2203	4299	6502	SO:0001819	synonymous_variant	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2031G>A	chr12.hg19:g.123479959C>T			Q9P271	Silent	SNP	ENST00000542749.1	hg19	CCDS9242.1																																																																																				0.637	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		T	123479959	C	T	123479959	2	4	452	1	0	0	0	0	0	0	0	1	11953	796	28	2		2	PITPNM2	12	123479959	Silent	SNP	C	TCGA-BQ-5876-01A-11D-1589-08	116434192	123479959	10371936	37	24692											
ERCC5	2073	hgsc.bcm.edu	37	13	103510748	103510748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr13:103510748delT	ENST00000355739.4	+	6	2075	c.652delT	c.(652-654)ttafs	p.L218fs	BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.I644fs|ERCC5_ENST00000535557.1_Frame_Shift_Del_p.L218fs	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	218					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGAAGAACATTATTTGAAGC	0.373			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	0													96	99	98					13																	103510748		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.652delT	chr13.hg19:g.103510748delT	ENSP00000347978:p.Leu218fs		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Frame_Shift_Del	DEL	ENST00000355739.4	hg19	CCDS32004.1																																																																																				0.373	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			-	103510748	T	-	103510748	7	5	452	1	0	1	0	1	0	0	0	0	5218	1490	52	0	674	0	ERCC5	13	103510748	Frame_Shift_Del	DEL	T	TCGA-BQ-5876-01A-11D-1589-08		103510748	11659130	38	24693											
TTC7B	145567	hgsc.bcm.edu	37	14	91161893	91161893	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr14:91161893C>G	ENST00000328459.6	-	6	849	c.728G>C	c.(727-729)aGa>aCa	p.R243T	RP11-661G16.2_ENST00000553712.1_RNA|TTC7B_ENST00000357056.2_Missense_Mutation_p.R243T	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	243										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GAGAAGCTCTCTAAATCTTCC	0.413																																																0													138	111	120					14																	91161893		2203	4300	6503	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.728G>C	chr14.hg19:g.91161893C>G	ENSP00000336127:p.Arg243Thr		Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	hg19	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671065	0.47781	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000557766	T;T	0.66638	0.45;-0.22	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	M	0.82517	2.595	0.80722	D	1	B	0.30482	0.281	B	0.27796	0.083	T	0.72279	-0.4340	10	0.87932	D	0	-14.3324	14.3423	0.66636	0.0:0.9283:0.0:0.0717	.	243	Q86TV6	TTC7B_HUMAN	T	141;243;243;163	ENSP00000349564:R243T;ENSP00000336127:R243T	ENSP00000336127:R243T	R	-	2	0	TTC7B	90231646	1.000000	0.71417	0.781000	0.31783	0.002000	0.02628	7.184000	0.77705	1.420000	0.47138	-0.229000	0.12294	AGA		0.413	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			G	91161893	C	G	91161893	3	3	452	1	0	0	0	0	1	0	0	0	16718	913	32	4	1863	4	TTC7B	14	91161893	Missense_Mutation	SNP	C	TCGA-BQ-5876-01A-11D-1589-08		91161893	16187647	39	24694											
TYRO3	7301	hgsc.bcm.edu	37	15	41854918	41854918	+	Splice_Site	SNP	T	T	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr15:41854918T>G	ENST00000263798.3	+	4	804		c.e4+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGTAACAGGTGAGCAGCCTC	0.582																																																0													22	20	21					15																	41854918		2203	4300	6503	SO:0001630	splice_region_variant	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.580+2T>G	chr15.hg19:g.41854918T>G			O14953|Q86VR3	Splice_Site	SNP	ENST00000263798.3	hg19	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	t	21.2	4.113398	0.77210	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5013	0.67724	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39642210	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.037000	0.70956	2.007000	0.58848	0.387000	0.25754	.		0.582	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		Intron	G	41854918	T	G	41854918	5	3	452	1	0	0	0	0	0	0	1	0	16819	1710	59	5	596	5	TYRO3	15	41854918	Splice_Site	SNP	T	TCGA-BQ-5876-01A-11D-1589-08		41854918	60676474	40	24695											
MAPKBP1	23005	hgsc.bcm.edu	37	15	42105966	42105966	+	Missense_Mutation	SNP	G	G	A	rs374717785		TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr15:42105966G>A	ENST00000456763.2	+	10	1181	c.985G>A	c.(985-987)Gtc>Atc	p.V329I	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.V323I|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.V211I|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.V323I	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	329								p.V323I(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CATTGCTAGCGTCACCGAGGC	0.592																																																1	Substitution - Missense(1)	large_intestine(1)						A	ILE/VAL,ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	115	106	109		985,967	-6.3	0.1	15		109	0,8600		0,0,4300	no	missense,missense	MAPKBP1	NM_001128608.1,NM_014994.2	29,29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	329/1515,323/1509	42105966	3,13003	2203	4300	6503	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.985G>A	chr15.hg19:g.42105966G>A	ENSP00000393099:p.Val329Ile		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	hg19	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	0.324	-0.960053	0.02267	6.81E-4	0.0	ENSG00000137802	ENST00000457542;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T	0.42131	1.08;0.98;1.15;1.24	5.64	-6.33	0.01988	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.593302	0.19314	N	0.117308	T	0.28962	0.0719	L	0.38531	1.155	0.09310	N	0.999993	B;B;B;B	0.12013	0.001;0.005;0.001;0.001	B;B;B;B	0.13407	0.001;0.009;0.001;0.002	T	0.05053	-1.0909	10	0.21014	T	0.42	-1.6987	18.1757	0.89760	0.2499:0.0:0.7501:0.0	.	211;323;329;323	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	I	323;211;329;323	ENSP00000397570:V323I;ENSP00000260357:V211I;ENSP00000393099:V329I;ENSP00000426154:V323I	ENSP00000260357:V211I	V	+	1	0	MAPKBP1	39893258	0.000000	0.05858	0.055000	0.19348	0.822000	0.46500	-0.443000	0.06862	-1.516000	0.01782	-1.913000	0.00520	GTC		0.592	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		A	42105966	G	A	42105966	3	1	452	1	0	0	0	0	1	0	0	0	9294	1145	40	1	1019	1	MAPKBP1	15	42105966	Missense_Mutation	SNP	G	TCGA-BQ-5876-01A-11D-1589-08	251048	42105966	60425426	41	24696											
AP4E1	23431	hgsc.bcm.edu	37	15	51289917	51289917	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr15:51289917T>A	ENST00000261842.5	+	18	2847	c.2741T>A	c.(2740-2742)aTa>aAa	p.I914K	AP4E1_ENST00000560508.1_Missense_Mutation_p.I839K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	914					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACTGAATACATACACTCAAAT	0.353																																																0													66	68	67					15																	51289917		2196	4294	6490	SO:0001583	missense	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2741T>A	chr15.hg19:g.51289917T>A	ENSP00000261842:p.Ile914Lys		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	hg19	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	T	4.902	0.167570	0.09339	.	.	ENSG00000081014	ENST00000261842	T	0.16457	2.34	5.2	4.06	0.47325	Coatomer, beta subunit, C-terminal (1);	0.708362	0.14326	N	0.326718	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.26430	-1.0103	10	0.52906	T	0.07	-0.4045	3.9914	0.09538	0.0:0.1738:0.2024:0.6238	.	914	Q9UPM8	AP4E1_HUMAN	K	914	ENSP00000261842:I914K	ENSP00000261842:I914K	I	+	2	0	AP4E1	49077209	0.972000	0.33761	0.226000	0.23910	0.357000	0.29423	2.092000	0.41700	0.804000	0.34136	0.383000	0.25322	ATA		0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			A	51289917	T	A	51289917	3	1	452	1	0	0	0	0	1	0	0	0	752	1406	49	5	2811	5	AP4E1	15	51289917	Missense_Mutation	SNP	T	TCGA-BQ-5876-01A-11D-1589-08	9183951	51289917	51241475	42	24697											
PIAS1	8554	hgsc.bcm.edu	37	15	68479999	68479999	+	Silent	SNP	T	T	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr15:68479999T>C	ENST00000249636.6	+	14	1930	c.1782T>C	c.(1780-1782)agT>agC	p.S594S	PIAS1_ENST00000545237.1_Silent_p.S596S	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	594	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ATCAGTTAAGTGCAGGAGGCA	0.502																																																0													85	83	83					15																	68479999		2018	4191	6209	SO:0001819	synonymous_variant	8554			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1782T>C	chr15.hg19:g.68479999T>C			B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Silent	SNP	ENST00000249636.6	hg19	CCDS45290.1																																																																																				0.502	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			C	68479999	T	C	68479999	2	2	452	1	0	0	0	0	0	0	0	1	11877	1693	59	3		3	PIAS1	15	68479999	Silent	SNP	T	TCGA-BQ-5876-01A-11D-1589-08	17190082	68479999	34051393	43	24698											
ZNF688	146542	hgsc.bcm.edu	37	16	30581595	30581595	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr16:30581595G>A	ENST00000223459.6	-	3	1577	c.473C>T	c.(472-474)gCc>gTc	p.A158V	AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF688_ENST00000395219.1_Missense_Mutation_p.A144V	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CGGGTCCCAGGCAGCATTTTT	0.672																																																0													29	32	31					16																	30581595		2197	4299	6496	SO:0001583	missense	146542			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.473C>T	chr16.hg19:g.30581595G>A	ENSP00000223459:p.Ala158Val		A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000223459.6	hg19	CCDS10684.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817925	0.32145	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.04194	3.68;3.91	4.26	0.961	0.19638	.	.	.	.	.	T	0.04003	0.0112	L	0.41236	1.265	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.11329	0.003;0.006	T	0.43523	-0.9386	9	0.28530	T	0.3	.	3.1826	0.06589	0.2262:0.0:0.5648:0.209	.	158;144	P0C7X2;A8MV39	ZN688_HUMAN;.	V	144;158	ENSP00000378645:A144V;ENSP00000223459:A158V	ENSP00000223459:A158V	A	-	2	0	ZNF688	30489096	0.018000	0.18449	0.721000	0.30653	0.192000	0.23643	1.655000	0.37345	0.546000	0.28920	0.460000	0.39030	GCC		0.672	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		A	30581595	G	A	30581595	3	1	452	1	0	0	0	0	1	0	0	0	18098	1203	42	2	361	2	ZNF688	16	30581595	Missense_Mutation	SNP	G	TCGA-BQ-5876-01A-11D-1589-08		30581595	59773158	44	24699											
RPGRIP1L	23322	hgsc.bcm.edu	37	16	53708941	53708941	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr16:53708941A>C	ENST00000379925.3	-	7	920	c.870T>G	c.(868-870)atT>atG	p.I290M	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.I290M|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.I290M|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.I290M	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	290					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTTGAAGCTGAATAAATTTTC	0.308																																																0													131	117	122					16																	53708941		2197	4297	6494	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.870T>G	chr16.hg19:g.53708941A>C	ENSP00000369257:p.Ile290Met		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	hg19	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597979	0.28445	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.89875	-2.58;-2.58	5.98	4.87	0.63330	.	0.287071	0.33834	N	0.004504	T	0.77638	0.4160	L	0.36672	1.1	0.80722	D	1	B;B;B;P	0.38250	0.351;0.241;0.241;0.624	B;B;B;B	0.32342	0.071;0.071;0.071;0.144	T	0.76244	-0.3030	10	0.48119	T	0.1	-8.1579	0.3735	0.00383	0.3487:0.18:0.1302:0.3411	.	290;290;290;290	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	M	290	ENSP00000369257:I290M;ENSP00000262135:I290M	ENSP00000262135:I290M	I	-	3	3	RPGRIP1L	52266442	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.557000	0.36299	2.293000	0.77203	0.477000	0.44152	ATT		0.308	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		C	53708941	A	C	53708941	3	2	452	1	0	0	0	0	1	0	0	0	13556	242	9	5	3161	5	RPGRIP1L	16	53708941	Missense_Mutation	SNP	A	TCGA-BQ-5876-01A-11D-1589-08	23127346	53708941	36645812	45	24700											
CHRNB1	1140	hgsc.bcm.edu	37	17	7357711	7357711	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr17:7357711C>G	ENST00000306071.2	+	8	983	c.916C>G	c.(916-918)Ccc>Gcc	p.P306A	CHRNB1_ENST00000536404.2_Missense_Mutation_p.P234A|CHRNB1_ENST00000576360.1_Intron|CHRNB1_ENST00000575379.1_5'Flank	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	306					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	ACTATCAGTACCCATTATTAT	0.512																																																0													307	238	262					17																	7357711		2203	4300	6503	SO:0001583	missense	1140			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.916C>G	chr17.hg19:g.7357711C>G	ENSP00000304290:p.Pro306Ala		B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	hg19	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212473	0.58452	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	D;D	0.85339	-1.97;-1.97	4.92	4.92	0.64577	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	H	0.99074	4.42	0.80722	D	1	D	0.63880	0.993	P	0.61132	0.884	D	0.97341	0.9957	10	0.87932	D	0	.	15.675	0.77311	0.0:1.0:0.0:0.0	.	306	P11230	ACHB_HUMAN	A	306;234	ENSP00000304290:P306A;ENSP00000439209:P234A	ENSP00000304290:P306A	P	+	1	0	CHRNB1	7298435	1.000000	0.71417	0.998000	0.56505	0.270000	0.26580	7.818000	0.86416	2.300000	0.77407	0.298000	0.19748	CCC		0.512	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			G	7357711	C	G	7357711	3	3	452	1	0	0	0	0	1	0	0	0	3392	507	18	4	946	4	CHRNB1	17	7357711	Missense_Mutation	SNP	C	TCGA-BQ-5876-01A-11D-1589-08		7357711	73837499	46	24701											
MYL4	4635	hgsc.bcm.edu	37	17	45286883	45286883	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr17:45286883A>G	ENST00000354968.1	+	2	223	c.95A>G	c.(94-96)gAg>gGg	p.E32G	MYL4_ENST00000572316.1_Missense_Mutation_p.E32G|MYL4_ENST00000393450.1_Missense_Mutation_p.E32G	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	32					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						ccagctcctgAGGCTCCCAAG	0.582																																																0													65	64	64					17																	45286883		2203	4300	6503	SO:0001583	missense	4635				CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"Myosins / Light chain", "EF-hand domain containing"	7585	protein-coding gene	gene with protein product	"myosin, atrial/fetal muscle, light chain"	160770	"myosin, light polypeptide 4, alkali; atrial, embryonic"			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.95A>G	chr17.hg19:g.45286883A>G	ENSP00000347055:p.Glu32Gly		D3DXJ7|P11783	Missense_Mutation	SNP	ENST00000354968.1	hg19	CCDS11510.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.376256	0.42105	.	.	ENSG00000198336	ENST00000354968;ENST00000393450;ENST00000536623	D;D	0.88124	-2.34;-2.34	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	M	0.81942	2.565	0.42862	D	0.994118	D	0.57899	0.981	D	0.65140	0.932	D	0.90935	0.4793	10	0.29301	T	0.29	-32.6232	11.5071	0.50472	1.0:0.0:0.0:0.0	.	32	P12829	MYL4_HUMAN	G	32;32;2	ENSP00000347055:E32G;ENSP00000377096:E32G	ENSP00000347055:E32G	E	+	2	0	MYL4	42641882	0.998000	0.40836	0.994000	0.49952	0.561000	0.35649	2.795000	0.47861	1.991000	0.58162	0.459000	0.35465	GAG		0.582	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		G	45286883	A	G	45286883	3	3	452	1	0	0	0	0	1	0	0	0	10051	304	11	3	97	3	MYL4	17	45286883	Missense_Mutation	SNP	A	TCGA-BQ-5876-01A-11D-1589-08	37929172	45286883	35908327	47	24702											
HDHD2	84064	hgsc.bcm.edu	37	18	44639349	44639349	+	Splice_Site	SNP	A	A	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr18:44639349A>T	ENST00000300605.6	-	6	827	c.675T>A	c.(673-675)acT>acA	p.T225T	HDHD2_ENST00000587841.1_5'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	225						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						GATACATACCAGTCTTTACTA	0.408																																																0													115	100	105					18																	44639349		2203	4300	6503	SO:0001630	splice_region_variant	84064			AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.676+1T>A	chr18.hg19:g.44639349A>T			A8K7T3|Q96NV4	Silent	SNP	ENST00000300605.6	hg19	CCDS32829.1																																																																																				0.408	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124	Silent	T	44639349	A	T	44639349	5	4	452	1	0	0	0	0	0	0	1	0	7025	202	7	5	112	5	HDHD2	18	44639349	Splice_Site	SNP	A	TCGA-BQ-5876-01A-11D-1589-08		44639349	33437899	48	24703											
MUC16	94025	hgsc.bcm.edu	37	19	9083127	9083127	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:9083127C>A	ENST00000397910.4	-	1	8891	c.8688G>T	c.(8686-8688)gaG>gaT	p.E2896D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2897	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTTGGGACCTCAGAAAACT	0.507																																																0													75	69	71					19																	9083127		1897	4124	6021	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8688G>T	chr19.hg19:g.9083127C>A	ENSP00000381008:p.Glu2896Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.382	-0.341788	0.05243	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	0.773	-1.55	0.08558	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.19817	0.039	B	0.15484	0.013	T	0.45906	-0.9229	8	0.87932	D	0	.	2.2074	0.03939	0.0:0.3584:0.3406:0.301	.	2896	B5ME49	.	D	2896	ENSP00000381008:E2896D	ENSP00000381008:E2896D	E	-	3	2	MUC16	8944127	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.875000	0.04205	-0.903000	0.03881	0.313000	0.20887	GAG		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9083127	C	A	9083127	3	1	452	1	0	0	0	0	1	0	0	0	9975	680	24	4	35171	4	MUC16	19	9083127	Missense_Mutation	SNP	C	TCGA-BQ-5876-01A-11D-1589-08		9083127	50045856	49	24704											
IRF2BP1	26145	hgsc.bcm.edu	37	19	46387423	46387423	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:46387423G>A	ENST00000302165.3	-	1	1953	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	537	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGGGCCCTGCGCCTTGATGAA	0.677																																																0													30	30	30					19																	46387423		2203	4299	6502	SO:0001583	missense	26145			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1610C>T	chr19.hg19:g.46387423G>A	ENSP00000307265:p.Ala537Val		Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	hg19	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574987	0.65878	.	.	ENSG00000170604	ENST00000302165	D	0.86230	-2.09	4.58	4.58	0.56647	Zinc finger, C3HC4 RING-type (1);	0.382217	0.24182	N	0.040786	T	0.75961	0.3921	N	0.22421	0.69	0.30785	N	0.741587	P	0.43750	0.816	B	0.32533	0.147	T	0.77253	-0.2656	10	0.33940	T	0.23	.	14.914	0.70781	0.0:0.0:1.0:0.0	.	537	Q8IU81	I2BP1_HUMAN	V	537	ENSP00000307265:A537V	ENSP00000307265:A537V	A	-	2	0	IRF2BP1	51079263	0.964000	0.33143	0.999000	0.59377	0.968000	0.65278	2.896000	0.48656	2.362000	0.80069	0.563000	0.77884	GCG		0.677	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		A	46387423	G	A	46387423	3	1	452	1	0	0	0	0	1	0	0	0	7831	1087	38	1	148	1	IRF2BP1	19	46387423	Missense_Mutation	SNP	G	TCGA-BQ-5876-01A-11D-1589-08	37304296	46387423	12741560	50	24705											
FAM71E1	112703	hgsc.bcm.edu	37	19	50970929	50970929	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:50970929G>A	ENST00000600100.1	-	4	1061	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	FAM71E1_ENST00000595790.1_Missense_Mutation_p.R217C			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	233										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		AAGCGCAGGCGGTAGAGCAGC	0.612																																																0													26	27	26					19																	50970929		2195	4290	6485	SO:0001583	missense	112703				CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.697C>T	chr19.hg19:g.50970929G>A	ENSP00000472421:p.Arg233Cys		Q96EJ5|Q9BSM9	Missense_Mutation	SNP	ENST00000600100.1	hg19		.	.	.	.	.	.	.	.	.	.	g	15.85	2.955383	0.53293	.	.	ENSG00000142530	ENST00000391816;ENST00000270620	T;T	0.17854	2.25;2.25	4.0	0.356	0.16074	.	0.791977	0.10938	N	0.617646	T	0.29914	0.0748	L	0.51422	1.61	0.42510	D	0.992969	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.95	T	0.19877	-1.0292	10	0.66056	D	0.02	-6.3609	5.8158	0.18492	0.096:0.0:0.5658:0.3382	.	233;217	Q6IPT2;Q6IPT2-2	F71E1_HUMAN;.	C	233;217	ENSP00000375692:R233C;ENSP00000270620:R217C	ENSP00000270620:R217C	R	-	1	0	FAM71E1	55662741	1.000000	0.71417	0.998000	0.56505	0.724000	0.41520	2.576000	0.46033	0.057000	0.16193	0.462000	0.41574	CGC		0.612	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			A	50970929	G	A	50970929	3	1	452	1	0	0	0	0	1	0	0	0	5613	1116	39	1	50	1	FAM71E1	19	50970929	Missense_Mutation	SNP	G	TCGA-BQ-5876-01A-11D-1589-08	4583506	50970929	8158054	51	24706											
ZFP28	140612	hgsc.bcm.edu	37	19	57066282	57066282	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:57066282T>C	ENST00000301318.3	+	8	2199	c.2128T>C	c.(2128-2130)Ttt>Ctt	p.F710L	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	710					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGGGAAGGCCTTTGGTGATAA	0.443																																					Ovarian(124;554 1662 19430 21141 52494)											0													105	105	105					19																	57066282		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2128T>C	chr19.hg19:g.57066282T>C	ENSP00000301318:p.Phe710Leu		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	hg19	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.714627	0.68730	.	.	ENSG00000196867	ENST00000301318	T	0.46063	0.88	4.0	2.98	0.34508	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000249	T	0.64659	0.2618	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66488	-0.5911	10	0.87932	D	0	.	8.4668	0.32960	0.0:0.0964:0.0:0.9036	.	710	Q8NHY6	ZFP28_HUMAN	L	710	ENSP00000301318:F710L	ENSP00000301318:F710L	F	+	1	0	ZFP28	61758094	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.655000	0.67981	0.710000	0.31997	0.454000	0.30748	TTT		0.443	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		C	57066282	T	C	57066282	3	2	452	1	0	0	0	0	1	0	0	0	17647	1609	56	3	2158	3	ZFP28	19	57066282	Missense_Mutation	SNP	T	TCGA-BQ-5876-01A-11D-1589-08	6095353	57066282	2062701	52	24707			1	39		2	2	17	N	T_C	3.101053e-05
ZFP28	140612	hgsc.bcm.edu	37	19	57066298	57066298	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:57066298C>A	ENST00000301318.3	+	8	2215	c.2144C>A	c.(2143-2145)tCc>tAc	p.S715Y	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	715					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GATAACTCATCCTGTACTCAA	0.433																																					Ovarian(124;554 1662 19430 21141 52494)											0													108	108	108					19																	57066298		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2144C>A	chr19.hg19:g.57066298C>A	ENSP00000301318:p.Ser715Tyr		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	hg19	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	0.336	-0.953021	0.02285	.	.	ENSG00000196867	ENST00000301318	T	0.36878	1.23	4.0	2.86	0.33363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000413	T	0.22742	0.0549	L	0.35723	1.085	0.20074	N	0.999935	P	0.39181	0.663	B	0.37346	0.247	T	0.07481	-1.0770	10	0.17832	T	0.49	.	7.0155	0.24885	0.0:0.7197:0.1785:0.1018	.	715	Q8NHY6	ZFP28_HUMAN	Y	715	ENSP00000301318:S715Y	ENSP00000301318:S715Y	S	+	2	0	ZFP28	61758110	0.001000	0.12720	0.992000	0.48379	0.984000	0.73092	1.178000	0.31981	2.228000	0.72767	0.555000	0.69702	TCC		0.433	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		A	57066298	C	A	57066298	3	1	452	1	0	0	0	0	1	0	0	0	17647	855	30	4	2174	4	ZFP28	19	57066298	Missense_Mutation	SNP	C	TCGA-BQ-5876-01A-11D-1589-08	16	57066298	2062685	53	24708			1	39		2	2	17	N	T_C	3.101053e-05
NCOA6	23054	hgsc.bcm.edu	37	20	33329544	33329544	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr20:33329544T>C	ENST00000374796.2	-	12	7086	c.4516A>G	c.(4516-4518)Aaa>Gaa	p.K1506E	NCOA6_ENST00000359003.2_Missense_Mutation_p.K1506E			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1506					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCAGGGGGTTTAATTGTCACA	0.463																																																0													78	70	73					20																	33329544		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4516A>G	chr20.hg19:g.33329544T>C	ENSP00000363929:p.Lys1506Glu		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	hg19	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.203458	0.58234	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.34859	1.34;1.34	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000002	T	0.38852	0.1056	L	0.27053	0.805	0.39212	D	0.963341	D	0.60575	0.988	P	0.54759	0.76	T	0.16482	-1.0401	10	0.25106	T	0.35	-8.9946	15.5409	0.76048	0.0:0.0:0.0:1.0	.	1506	Q14686	NCOA6_HUMAN	E	1506	ENSP00000363929:K1506E;ENSP00000351894:K1506E	ENSP00000351894:K1506E	K	-	1	0	NCOA6	32793205	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.330000	0.65899	2.254000	0.74563	0.482000	0.46254	AAA		0.463	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		C	33329544	T	C	33329544	3	2	452	1	0	0	0	0	1	0	0	0	10235	1763	61	3	1695	3	NCOA6	20	33329544	Missense_Mutation	SNP	T	TCGA-BQ-5876-01A-11D-1589-08		33329544	29695976	54	24709											
SLC5A3	6526	hgsc.bcm.edu	37	21	35468362	35468362	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr21:35468362G>A	ENST00000381151.3	+	2	1377	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A289T			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	289					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GGTCCTTGCAGCCAAAAACAT	0.478																																																0													102	98	100					21																	35468362		2203	4300	6503	SO:0001583	missense	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.865G>A	chr21.hg19:g.35468362G>A	ENSP00000370543:p.Ala289Thr		O43489	Missense_Mutation	SNP	ENST00000381151.3	hg19	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936080	0.73442	.	.	ENSG00000198743	ENST00000381151	D	0.88975	-2.45	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.96482	0.8852	H	0.96365	3.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	D	0.97583	1.0112	10	0.87932	D	0	.	18.2056	0.89853	0.0:0.0:1.0:0.0	.	289	P53794	SC5A3_HUMAN	T	289	ENSP00000370543:A289T	ENSP00000370543:A289T	A	+	1	0	SLC5A3	34390232	1.000000	0.71417	0.922000	0.36590	0.963000	0.63663	9.869000	0.99810	2.589000	0.87451	0.609000	0.83330	GCC		0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			A	35468362	G	A	35468362	3	1	452	1	0	0	0	0	1	0	0	0	14672	971	34	2	867	2	SLC5A3	21	35468362	Missense_Mutation	SNP	G	TCGA-BQ-5876-01A-11D-1589-08		35468362	12661533	55	24710											
POTEH	23784	hgsc.bcm.edu	37	22	16287580	16287580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr22:16287580G>T	ENST00000343518.6	-	1	357	c.306C>A	c.(304-306)tgC>tgA	p.C102*		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	102										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AGCAGTGGCAGCACCACTTGC	0.597																																																0													67	81	76					22																	16287580		1945	3669	5614	SO:0001587	stop_gained	23784			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.306C>A	chr22.hg19:g.16287580G>T	ENSP00000340610:p.Cys102*		A2CEK4|A6NCI1|A9Z1W0	Nonsense_Mutation	SNP	ENST00000343518.6	hg19	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.143668	0.37825	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	.	.	.	0.168	0.168	0.15012	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	102	.	ENSP00000340610:C102X	C	-	3	2	POTEH	14667580	0.005000	0.15991	0.025000	0.17156	0.026000	0.11368	0.263000	0.18478	0.278000	0.22164	0.283000	0.19423	TGC		0.597	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		T	16287580	G	T	16287580	4	4	452	1	0	0	0	0	0	1	0	0	12269	963	34	4	1371	4	POTEH	22	16287580	Nonsense_Mutation	SNP	G	TCGA-BQ-5876-01A-11D-1589-08		16287580	35016986	56	24711											
SMARCB1	6598	hgsc.bcm.edu	37	22	24167461	24167461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr22:24167461delA	ENST00000263121.7	+	7	1041	c.845delA	c.(844-846)gacfs	p.D282fs	SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.D273fs|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.D236fs|SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000344921.6_Frame_Shift_Del_p.D291fs	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	282	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(6)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TTTGAGTGGGACATGTCAGAG	0.537			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	7	Unknown(6)|Deletion - In frame(1)	central_nervous_system(6)|soft_tissue(1)											126	101	110					22																	24167461		2203	4300	6503	SO:0001589	frameshift_variant	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.845delA	chr22.hg19:g.24167461delA	ENSP00000263121:p.Asp282fs		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Frame_Shift_Del	DEL	ENST00000263121.7	hg19	CCDS13817.1																																																																																				0.537	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		-	24167461	A	-	24167461	7	5	452	1	0	1	0	1	0	0	0	0	14780	275	10	0	871	0	SMARCB1	22	24167461	Frame_Shift_Del	DEL	A	TCGA-BQ-5876-01A-11D-1589-08	7879881	24167461	27137105	57	24712											
CENPM	79019	hgsc.bcm.edu	37	22	42342456	42342456	+	Silent	SNP	C	C	G	rs372178394		TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr22:42342456C>G	ENST00000215980.5	-	2	189	c.102G>C	c.(100-102)tcG>tcC	p.S34S	CENPM_ENST00000402420.1_5'UTR|CENPM_ENST00000402338.1_5'UTR|CENPM_ENST00000407253.3_Silent_p.S34S|CENPM_ENST00000404067.1_5'UTR	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	34					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						CTTTGAGCATCGAGTCCGCCA	0.647											OREG0026600	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													36	31	33					22																	42342456		2203	4299	6502	SO:0001819	synonymous_variant	79019			BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"chromosome 22 open reading frame 18"	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.102G>C	chr22.hg19:g.42342456C>G		908	A7LM22|B1AHQ9|Q6I9W3	Silent	SNP	ENST00000215980.5	hg19	CCDS14025.1																																																																																				0.647	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053		G	42342456	C	G	42342456	2	3	452	1	0	0	0	0	0	0	0	1	3239	871	31	4		4	CENPM	22	42342456	Silent	SNP	C	TCGA-BQ-5876-01A-11D-1589-08	18174995	42342456	8962110	58	24713											
TAF1	6872	hgsc.bcm.edu	37	X	70643918	70643918	+	Splice_Site	SNP	T	T	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chrX:70643918T>C	ENST00000373790.4	+	31	4716		c.e31+2		TAF1_ENST00000423759.1_Splice_Site|TAF1_ENST00000461764.1_Splice_Site|TAF1_ENST00000449580.1_Splice_Site|TAF1_ENST00000276072.3_Splice_Site	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa						cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATACGTAAGGTGAGTGAGTGA	0.373																																																0													133	107	116					X																	70643918		2203	4300	6503	SO:0001630	splice_region_variant	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4665+2T>C	chrX.hg19:g.70643918T>C			A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Splice_Site	SNP	ENST00000373790.4	hg19	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.255554	0.59321	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072;ENST00000437147	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8076	0.63243	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAF1	70560643	1.000000	0.71417	0.992000	0.48379	0.831000	0.47069	7.412000	0.80091	1.704000	0.51252	0.486000	0.48141	.		0.373	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	Intron	C	70643918	T	C	70643918	5	2	452	1	0	0	0	0	0	0	1	0	15518	1710	59	3	4852	3	TAF1	23	70643918	Splice_Site	SNP	T	TCGA-BQ-5876-01A-11D-1589-08		70643918	84626642	59	24714											
ODZ1	10178	hgsc.bcm.edu	37	X	123518587	123518587	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chrX:123518587G>C	ENST00000371130.3	-	29	6236	c.6173C>G	c.(6172-6174)aCc>aGc	p.T2058S	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.T2065S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2058					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGGCAAAGGGGTTTCATTGAT	0.393																																																0													125	106	112					X																	123518587		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6173C>G	chrX.hg19:g.123518587G>C	ENSP00000360171:p.Thr2058Ser		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	hg19	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184284	0.78677	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86097	-2.07;-2.03	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.90992	0.7167	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.70716	0.97;0.918;0.937	D	0.90198	0.4255	10	0.39692	T	0.17	.	18.3227	0.90244	0.0:0.0:1.0:0.0	.	2064;2065;2058	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	2058;2065	ENSP00000360171:T2058S;ENSP00000403954:T2065S	ENSP00000360171:T2058S	T	-	2	0	ODZ1	123346268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.964000	0.87933	2.265000	0.75225	0.600000	0.82982	ACC		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		C	123518587	G	C	123518587	3	2	452	1	0	0	0	0	1	0	0	0	10836	1261	44	4	2016	4	ODZ1	23	123518587	Missense_Mutation	SNP	G	TCGA-BQ-5876-01A-11D-1589-08	52874669	123518587	31751973	60	24715											
CTRC	11330	hgsc.bcm.edu	37	1	15766798	15766798	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr1:15766798T>C	ENST00000375949.4	+	2	69	c.43T>C	c.(43-45)Tcc>Ccc	p.S15P	CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	15					proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCCAGCCTCCAGCTGTGG	0.662																																																0													13	15	14					1																	15766798		2195	4289	6484	SO:0001583	missense	11330			BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"elastase 4"	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.43T>C	chr1.hg19:g.15766798T>C	ENSP00000365116:p.Ser15Pro		A8K082|O00765|Q9NUH5	Missense_Mutation	SNP	ENST00000375949.4	hg19	CCDS156.1	.	.	.	.	.	.	.	.	.	.	.	12.00	1.806468	0.31961	.	.	ENSG00000162438	ENST00000375949	D	0.92699	-3.09	4.94	3.78	0.43462	.	0.380815	0.30293	N	0.009943	D	0.82522	0.5055	N	0.12961	0.28	0.80722	D	1	P;B	0.34837	0.472;0.198	B;B	0.30943	0.122;0.122	T	0.78914	-0.2016	10	0.35671	T	0.21	-29.5492	10.7713	0.46325	0.0:0.0:0.1596:0.8404	.	15;15	A8MTQ9;Q99895	.;CTRC_HUMAN	P	15	ENSP00000365116:S15P	ENSP00000365116:S15P	S	+	1	0	CTRC	15639385	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	1.777000	0.38604	0.881000	0.35993	0.533000	0.62120	TCC		0.662	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		C	15766798	T	C	15766798	3	2	453	1	0	0	0	0	1	0	0	0	4029	1551	54	3	49	3	CTRC	1	15766798	Missense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08		15766798	233483823	1	24716											
BCAN	63827	hgsc.bcm.edu	37	1	156628454	156628454	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr1:156628454C>A	ENST00000329117.5	+	13	2893	c.2557C>A	c.(2557-2559)Ctg>Atg	p.L853M	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	853	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAGCGCAATCTGCCGCTGAT	0.647																																																0													76	82	80					1																	156628454		2203	4300	6503	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2557C>A	chr1.hg19:g.156628454C>A	ENSP00000331210:p.Leu853Met		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	hg19	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488032	0.44249	.	.	ENSG00000132692	ENST00000329117	T	0.63744	-0.06	4.96	2.91	0.33838	Complement control module (2);Sushi/SCR/CCP (3);	0.749157	0.11026	N	0.607755	T	0.48352	0.1495	L	0.45051	1.395	0.30868	N	0.73272	D	0.56287	0.975	P	0.55011	0.766	T	0.36456	-0.9747	10	0.44086	T	0.13	-3.4908	5.7222	0.17992	0.0:0.6921:0.0:0.3079	.	853	Q96GW7	PGCB_HUMAN	M	853	ENSP00000331210:L853M	ENSP00000331210:L853M	L	+	1	2	BCAN	154895078	0.002000	0.14202	0.999000	0.59377	0.591000	0.36615	0.020000	0.13466	1.299000	0.44798	0.555000	0.69702	CTG		0.647	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		A	156628454	C	A	156628454	3	1	453	1	0	0	0	0	1	0	0	0	1345	912	32	4	2677	4	BCAN	1	156628454	Missense_Mutation	SNP	C	TCGA-BQ-5877-01A-11D-1589-08	140861656	156628454	92622167	2	24717											
HMCN1	83872	hgsc.bcm.edu	37	1	186072770	186072770	+	Silent	SNP	A	A	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr1:186072770A>G	ENST00000271588.4	+	69	10969	c.10740A>G	c.(10738-10740)ggA>ggG	p.G3580G	HMCN1_ENST00000367492.2_Silent_p.G3580G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3580	Ig-like C2-type 34.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCTAGGAGGAGGAGAGGTTC	0.433																																																0													58	60	59					1																	186072770		2203	4299	6502	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10740A>G	chr1.hg19:g.186072770A>G			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																				0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186072770	A	G	186072770	2	3	453	1	0	0	0	0	0	0	0	1	7222	291	11	3		3	HMCN1	1	186072770	Silent	SNP	A	TCGA-BQ-5877-01A-11D-1589-08	29444316	186072770	63177851	3	24718											
KIF21B	23046	hgsc.bcm.edu	37	1	200974516	200974517	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr1:200974516_200974517delTC	ENST00000422435.2	-	5	967_968	c.651_652delGA	c.(649-654)cagatgfs	p.QM217fs	KIF21B_ENST00000360529.5_Frame_Shift_Del_p.QM217fs|KIF21B_ENST00000332129.2_Frame_Shift_Del_p.QM217fs|KIF21B_ENST00000461742.2_Frame_Shift_Del_p.QM217fs	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	217	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCACGTTCATCTGGGTGCTGG	0.639																																																0																																										SO:0001589	frameshift_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.651_652delGA	chr1.hg19:g.200974516_200974517delTC	ENSP00000411831:p.Gln217fs		B2RP62|B7ZMI0|Q5T4J3	Frame_Shift_Del	DEL	ENST00000422435.2	hg19	CCDS58056.1																																																																																				0.639	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		-	200974517	TC	-	200974516	7	5	453	1	0	1	0	1	0	0	0	0	8291	1435	50	0	4342	0	KIF21B	1	200974516	Frame_Shift_Del	DEL	TC	TCGA-BQ-5877-01A-11D-1589-08	14901746	200974516	48276105	4	24719											
EXOC8	149371	hgsc.bcm.edu	37	1	231472695	231472695	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr1:231472695T>A	ENST00000360394.2	-	1	883	c.797A>T	c.(796-798)aAt>aTt	p.N266I	SPRTN_ENST00000391858.4_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.N262I|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	266	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GATTTTAGCATTTTCGGCCTG	0.547																																																0													69	70	69					1																	231472695		2203	4300	6503	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.797A>T	chr1.hg19:g.231472695T>A	ENSP00000353564:p.Asn266Ile		B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	hg19	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175994	0.78564	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.79653	-1.29;-1.29	5.69	5.69	0.88448	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.88130	0.6354	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.88677	0.3199	10	0.56958	D	0.05	-22.853	15.9478	0.79806	0.0:0.0:0.0:1.0	.	266	Q8IYI6	EXOC8_HUMAN	I	266;262	ENSP00000353564:N266I;ENSP00000355605:N262I	ENSP00000353564:N266I	N	-	2	0	EXOC8	229539318	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.165000	0.68154	0.459000	0.35465	AAT		0.547	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		A	231472695	T	A	231472695	3	1	453	1	0	0	0	0	1	0	0	0	5313	1493	52	5	1384	5	EXOC8	1	231472695	Missense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08	30498179	231472695	17777926	5	24720											
NBAS	51594	hgsc.bcm.edu	37	2	15542368	15542368	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:15542368T>G	ENST00000281513.5	-	26	3020	c.2995A>C	c.(2995-2997)Atc>Ctc	p.I999L	NBAS_ENST00000441750.1_Missense_Mutation_p.I879L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	999					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAGGTATAGATGCACTCTAGT	0.383																																																0													156	148	151					2																	15542368		2203	4300	6503	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2995A>C	chr2.hg19:g.15542368T>G	ENSP00000281513:p.Ile999Leu		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	hg19	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.90|16.90	3.250228|3.250228	0.59212|0.59212	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000429842|ENST00000441750;ENST00000281513;ENST00000441755	.|T;T;T	.|0.18016	.|2.24;2.24;2.24	5.65|5.65	4.5|4.5	0.54988|0.54988	.|Secretory pathway Sec39 (1);	.|0.044348	.|0.85682	.|D	.|0.000000	T|T	0.24890|0.24890	0.0604|0.0604	M|M	0.67953|0.67953	2.075|2.075	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P	.|0.43024	.|0.798;0.771	.|B;P	.|0.45428	.|0.39;0.48	T|T	0.01613|0.01613	-1.1312|-1.1312	5|10	.|0.87932	.|D	.|0	.|.	10.3793|10.3793	0.44101|0.44101	0.0:0.0774:0.0:0.9226|0.0:0.0774:0.0:0.9226	.|.	.|879;999	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	P|L	96|879;999;46	.|ENSP00000413201:I879L;ENSP00000281513:I999L;ENSP00000396501:I46L	.|ENSP00000281513:I999L	H|I	-|-	2|1	0|0	NBAS|NBAS	15459819|15459819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	4.514000|4.514000	0.60482|0.60482	0.976000|0.976000	0.38417|0.38417	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.383	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		G	15542368	T	G	15542368	3	3	453	1	0	0	0	0	1	0	0	0	10188	1464	51	5	4228	5	NBAS	2	15542368	Missense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08		15542368	227657005	6	24721											
CENPA	1058	hgsc.bcm.edu	37	2	27016052	27016052	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:27016052T>C	ENST00000335756.4	+	4	528	c.328T>C	c.(328-330)Tat>Cat	p.Y110H	CENPA_ENST00000233505.8_Missense_Mutation_p.Y84H|CENPA_ENST00000475662.1_3'UTR	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	110	CATD.|H3-like.				CENP-A containing nucleosome assembly (GO:0034080)|establishment of mitotic spindle orientation (GO:0000132)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|protein localization to chromosome, centromeric region (GO:0071459)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|condensed chromosome inner kinetochore (GO:0000939)|condensed nuclear chromosome kinetochore (GO:0000778)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGACGCCTATCTCCTCAC	0.542																																					Pancreas(28;769 878 30250 30578 41330)											0													185	191	189					2																	27016052		2203	4300	6503	SO:0001583	missense	1058			U14518	CCDS1729.1, CCDS42662.1	2p23.3	2013-11-05	2006-06-16		ENSG00000115163	ENSG00000115163			1851	protein-coding gene	gene with protein product	"centromere-specific histone", "histone H3-like centromeric protein A"	117139	"centromere protein A (17kD)", "centromere protein A, 17kDa"				Standard	NM_001042426		Approved	CENP-A, CenH3	uc002rhr.3	P49450	OTTHUMG00000097073	ENST00000335756.4:c.328T>C	chr2.hg19:g.27016052T>C	ENSP00000336868:p.Tyr110His		D6W544|Q53T74|Q9BVW2	Missense_Mutation	SNP	ENST00000335756.4	hg19	CCDS1729.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184197	0.57800	.	.	ENSG00000115163	ENST00000335756;ENST00000233505	T;T	0.68331	-0.32;-0.32	5.96	5.96	0.96718	Histone-fold (2);Histone core (1);	0.408748	0.26258	N	0.025404	T	0.79137	0.4395	L	0.61387	1.9	0.41321	D	0.987178	D;D	0.76494	0.999;0.999	D;D	0.71184	0.968;0.972	T	0.81182	-0.1049	10	0.72032	D	0.01	-24.0282	14.3967	0.67015	0.0:0.0:0.0:1.0	.	84;110	P49450-2;P49450	.;CENPA_HUMAN	H	110;84	ENSP00000336868:Y110H;ENSP00000233505:Y84H	ENSP00000233505:Y84H	Y	+	1	0	CENPA	26869556	1.000000	0.71417	0.741000	0.31004	0.367000	0.29736	4.210000	0.58500	2.284000	0.76573	0.528000	0.53228	TAT		0.542	CENPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214190.2	NM_001809		C	27016052	T	C	27016052	3	2	453	1	0	0	0	0	1	0	0	0	3228	1522	53	3	342	3	CENPA	2	27016052	Missense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08	11473684	27016052	216183321	7	24722											
SLC5A6	8884	hgsc.bcm.edu	37	2	27427450	27427450	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:27427450T>C	ENST00000310574.3	-	9	1357	c.884A>G	c.(883-885)tAt>tGt	p.Y295C	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Missense_Mutation_p.Y295C	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	295					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	GAACACTGCATAACAGGAGCT	0.572																																																0													80	74	76					2																	27427450		2203	4300	6503	SO:0001583	missense	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.884A>G	chr2.hg19:g.27427450T>C	ENSP00000310208:p.Tyr295Cys		B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	hg19	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389077	0.61956	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.87809	-2.3;-2.3	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.92714	0.7684	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.93087	0.6496	10	0.54805	T	0.06	.	12.8283	0.57733	0.0:0.0:0.0:1.0	.	295	Q9Y289	SC5A6_HUMAN	C	295	ENSP00000310208:Y295C;ENSP00000384853:Y295C	ENSP00000310208:Y295C	Y	-	2	0	SLC5A6	27280954	1.000000	0.71417	0.958000	0.39756	0.397000	0.30659	5.786000	0.69006	1.986000	0.57962	0.533000	0.62120	TAT		0.572	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		C	27427450	T	C	27427450	3	2	453	1	0	0	0	0	1	0	0	0	14675	1406	49	3	1059	3	SLC5A6	2	27427450	Missense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08	411398	27427450	215771923	8	24723											
TTC27	55622	hgsc.bcm.edu	37	2	33036148	33036148	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:33036148G>A	ENST00000317907.4	+	17	2287	c.2056G>A	c.(2056-2058)Gtt>Att	p.V686I		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	686										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AAGTGGAGATGTTGCAACTGG	0.428																																																0													129	122	125					2																	33036148		2203	4300	6503	SO:0001583	missense	55622			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2056G>A	chr2.hg19:g.33036148G>A	ENSP00000313953:p.Val686Ile		A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	hg19	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	1.700	-0.501793	0.04261	.	.	ENSG00000018699	ENST00000317907	T	0.37584	1.19	5.22	2.23	0.28157	.	0.494754	0.21950	N	0.066749	T	0.11153	0.0272	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	10	0.32370	T	0.25	-11.2027	5.2727	0.15634	0.2963:0.0:0.5626:0.1412	.	686	Q6P3X3	TTC27_HUMAN	I	686	ENSP00000313953:V686I	ENSP00000313953:V686I	V	+	1	0	TTC27	32889652	0.000000	0.05858	0.868000	0.34077	0.084000	0.17831	0.052000	0.14163	0.765000	0.33221	0.650000	0.86243	GTT		0.428	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		A	33036148	G	A	33036148	3	1	453	1	0	0	0	0	1	0	0	0	16700	1377	48	2	2122	2	TTC27	2	33036148	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	5608698	33036148	210163225	9	24724											
THUMPD2	80745	hgsc.bcm.edu	37	2	39983057	39983058	+	Frame_Shift_Ins	INS	-	-	T	rs202183716		TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:39983057_39983058insT	ENST00000505747.1	-	7	961_962	c.934_935insA	c.(934-936)atafs	p.I312fs	THUMPD2_ENST00000260619.6_Frame_Shift_Ins_p.I282fs	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	312							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				TTCCAAAAGTATTGTTCCAAGT	0.322																																																0																																										SO:0001589	frameshift_variant	80745			AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"chromosome 2 open reading frame 8"	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.935dupA	chr2.hg19:g.39983059_39983059dupT	ENSP00000423933:p.Ile312fs		A8K7I7|Q53TT8|Q53TV0	Frame_Shift_Ins	INS	ENST00000505747.1	hg19	CCDS1805.2																																																																																				0.322	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		T	39983058	-	T	39983057	7	5	453	1	0	1	1	0	0	0	0	0	15888	449	16	0	592	0	THUMPD2	2	39983057	Frame_Shift_Ins	INS	-	TCGA-BQ-5877-01A-11D-1589-08	6946909	39983057	203216316	10	24725											
PSME4	23198	hgsc.bcm.edu	37	2	54125075	54125075	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:54125075C>G	ENST00000404125.1	-	31	3593	c.3538G>C	c.(3538-3540)Gtg>Ctg	p.V1180L	PSME4_ENST00000421748.2_Missense_Mutation_p.V324L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1180					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAGGCAACACTCGGTCATCT	0.408																																																0													155	149	151					2																	54125075		2203	4300	6503	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3538G>C	chr2.hg19:g.54125075C>G	ENSP00000384211:p.Val1180Leu		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	hg19	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	13.13	2.143792	0.37825	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.63417	-0.04;-0.04	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.196755	0.45361	D	0.000375	T	0.47525	0.1450	N	0.22421	0.69	0.37075	D	0.898738	B;B;B	0.15473	0.009;0.013;0.013	B;B;B	0.15484	0.007;0.013;0.008	T	0.47686	-0.9098	10	0.25106	T	0.35	.	13.4018	0.60887	0.0:0.9192:0.0:0.0808	.	555;324;1180	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	L	324;1180	ENSP00000410830:V324L;ENSP00000384211:V1180L	ENSP00000384211:V1180L	V	-	1	0	PSME4	53978579	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.276000	0.58933	2.667000	0.90743	0.655000	0.94253	GTG		0.408	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		G	54125075	C	G	54125075	3	3	453	1	0	0	0	0	1	0	0	0	12714	565	20	4	2057	4	PSME4	2	54125075	Missense_Mutation	SNP	C	TCGA-BQ-5877-01A-11D-1589-08	14142018	54125075	189074298	11	24726											
RGPD1	729857	hgsc.bcm.edu	37	2	88081658	88081659	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:88081658_88081659insA	ENST00000398146.3	-	20	5106_5107	c.4884_4885insT	c.(4882-4887)tttaaafs	p.K1629fs	RGPD2_ENST00000420840.2_Frame_Shift_Ins_p.K1621fs|RGPD2_ENST00000327544.6_Frame_Shift_Ins_p.K886fs|RGPD2_ENST00000494592.1_5'UTR			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1629					protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						TCTGGTGTTTTAAATGTGTAGT	0.342																																																0																																										SO:0001589	frameshift_variant	729857				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.4885dupT	chr2.hg19:g.88081661_88081661dupA	ENSP00000381214:p.Lys1629fs		P0C839|Q68DN6|Q6V1X0	Frame_Shift_Ins	INS	ENST00000398146.3	hg19	CCDS42710.2																																																																																				0.342	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330534.2	NM_001078170		A	88081659	-	A	88081658	7	5	453	1	0	1	1	0	0	0	0	0	13291	1763	61	0	5740	0	RGPD1	2	88081658	Frame_Shift_Ins	INS	-	TCGA-BQ-5877-01A-11D-1589-08	33956583	88081658	155117715	12	24727											
RGPD4	285190	hgsc.bcm.edu	37	2	108489365	108489366	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:108489365_108489366insT	ENST00000408999.3	+	20	4982_4983	c.4905_4906insT	c.(4906-4908)tttfs	p.F1636fs	RGPD4_ENST00000354986.4_Frame_Shift_Ins_p.F1636fs	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1636					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCAACTACACATTTAAAACACC	0.347																																																0																																										SO:0001589	frameshift_variant	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4908dupT	chr2.hg19:g.108489368_108489368dupT	ENSP00000386810:p.Phe1636fs		B9A029	Frame_Shift_Ins	INS	ENST00000408999.3	hg19	CCDS46381.1																																																																																				0.347	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		T	108489366	-	T	108489365	7	5	453	1	0	1	1	0	0	0	0	0	13294	204	8	0	4983	0	RGPD4	2	108489365	Frame_Shift_Ins	INS	-	TCGA-BQ-5877-01A-11D-1589-08	20407707	108489365	134710008	13	24728											
RANBP2	5903	hgsc.bcm.edu	37	2	109392304	109392304	+	Silent	SNP	T	T	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:109392304T>C	ENST00000283195.6	+	24	8535	c.8409T>C	c.(8407-8409)atT>atC	p.I2803I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2803					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAAATCCATTAGTTCACCAT	0.363																																																0													130	130	130					2																	109392304		2203	4300	6503	SO:0001819	synonymous_variant	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8409T>C	chr2.hg19:g.109392304T>C			Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	hg19	CCDS2079.1																																																																																				0.363	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		C	109392304	T	C	109392304	2	2	453	1	0	0	0	0	0	0	0	1	13034	1742	61	3		3	RANBP2	2	109392304	Silent	SNP	T	TCGA-BQ-5877-01A-11D-1589-08	902939	109392304	133807069	14	24729											
ORC2L	4999	hgsc.bcm.edu	37	2	201790562	201790562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:201790562C>A	ENST00000234296.2	-	13	1393	c.1144G>T	c.(1144-1146)Gaa>Taa	p.E382*	RN7SL694P_ENST00000584245.1_RNA	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	382					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						ATGTTACCTTCTTTAAATTTG	0.308																																																0													139	133	135					2																	201790562		2203	4300	6503	SO:0001587	stop_gained	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1144G>T	chr2.hg19:g.201790562C>A	ENSP00000234296:p.Glu382*		Q13204|Q53TX5	Nonsense_Mutation	SNP	ENST00000234296.2	hg19	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	39	7.716939	0.98450	.	.	ENSG00000115942	ENST00000234296	.	.	.	5.34	5.34	0.76211	.	0.148032	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	19.3943	0.94601	0.0:1.0:0.0:0.0	.	.	.	.	X	382	.	ENSP00000234296:E382X	E	-	1	0	ORC2	201498807	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.237000	0.51344	2.671000	0.90904	0.585000	0.79938	GAA		0.308	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		A	201790562	C	A	201790562	4	1	453	1	0	0	0	0	0	1	0	0	11264	922	32	4	613	4	ORC2L	2	201790562	Nonsense_Mutation	SNP	C	TCGA-BQ-5877-01A-11D-1589-08	92398258	201790562	41408811	15	24730											
KAT2B	8850	hgsc.bcm.edu	37	3	20187858	20187858	+	Silent	SNP	C	C	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:20187858C>T	ENST00000263754.4	+	14	2510	c.2055C>T	c.(2053-2055)taC>taT	p.Y685Y		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	685					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GAAAAGTTTACCCTGGACTTT	0.333																																																0													127	135	132					3																	20187858		2203	4300	6503	SO:0001819	synonymous_variant	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.2055C>T	chr3.hg19:g.20187858C>T			Q6NSK1	Silent	SNP	ENST00000263754.4	hg19	CCDS2634.1																																																																																				0.333	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		T	20187858	C	T	20187858	2	4	453	1	0	0	0	0	0	0	0	1	7984	518	18	2		2	KAT2B	3	20187858	Silent	SNP	C	TCGA-BQ-5877-01A-11D-1589-08		20187858	177834572	16	24731											
SETD2	29072	hgsc.bcm.edu	37	3	47161751	47161757	+	Frame_Shift_Del	DEL	GCTGTGG	GCTGTGG	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	GCTGTGG	GCTGTGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:47161751_47161757delGCTGTGG	ENST00000409792.3	-	3	4411_4417	c.4369_4375delCCACAGC	c.(4369-4377)ccacagcgafs	p.PQR1457fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1457					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCTTCCATCGCTGTGGGTCCCTGAAG	0.444			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4369_4375delCCACAGC	chr3.hg19:g.47161751_47161757delGCTGTGG	ENSP00000386759:p.Pro1457fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	hg19	CCDS2749.2																																																																																				0.444	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47161757	GCTGTGG	-	47161751	7	5	453	1	0	1	0	1	0	0	0	0	14137	1095	38	0	3395	0	SETD2	3	47161751	Frame_Shift_Del	DEL	GCTGTGG	TCGA-BQ-5877-01A-11D-1589-08	26973893	47161751	150860679	17	24732											
BAP1	8314	hgsc.bcm.edu	37	3	52439900	52439900	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:52439900A>G	ENST00000460680.1	-	10	1283	c.812T>C	c.(811-813)aTt>aCt	p.I271T	BAP1_ENST00000296288.5_Missense_Mutation_p.I253T	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I271fs*61(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTGGGTCTGAATCAGCTCTGG	0.542			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	eye(1)											67	68	68					3																	52439900		2203	4300	6503	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.812T>C	chr3.hg19:g.52439900A>G	ENSP00000417132:p.Ile271Thr		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	hg19	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.864400	0.51482	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.56275	0.47;0.49	5.35	5.35	0.76521	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.102540	0.64402	D	0.000002	T	0.46249	0.1383	L	0.54323	1.7	0.50813	D	0.999895	B	0.27068	0.167	B	0.16722	0.016	T	0.39722	-0.9600	10	0.15066	T	0.55	-9.2188	15.6343	0.76937	1.0:0.0:0.0:0.0	.	271	Q92560	BAP1_HUMAN	T	271;253	ENSP00000417132:I271T;ENSP00000296288:I253T	ENSP00000296288:I253T	I	-	2	0	BAP1	52414940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.318000	0.72866	2.152000	0.67230	0.459000	0.35465	ATT		0.542	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			G	52439900	A	G	52439900	3	3	453	1	0	0	0	0	1	0	0	0	1311	101	4	3	1409	3	BAP1	3	52439900	Missense_Mutation	SNP	A	TCGA-BQ-5877-01A-11D-1589-08	5278149	52439900	145582530	18	24733											
CADM2	253559	hgsc.bcm.edu	37	3	86114798	86114799	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:86114798_86114799insT	ENST00000407528.2	+	9	1169_1170	c.1107_1108insT	c.(1108-1110)atafs	p.I370fs	CADM2_ENST00000405615.2_Frame_Shift_Ins_p.I372fs|CADM2_ENST00000383699.3_Frame_Shift_Ins_p.I339fs	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	370					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACCATGCTCTCATAGGAGGAAT	0.406																																																0																																										SO:0001589	frameshift_variant	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	Exception_encountered	chr3.hg19:g.86114798_86114799insT	ENSP00000384575:p.Ile370fs		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Frame_Shift_Ins	INS	ENST00000407528.2	hg19	CCDS54614.1																																																																																				0.406	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		T	86114799	-	T	86114798	7	5	453	1	0	1	1	0	0	0	0	0	2569	813	29	0	1212	0	CADM2	3	86114798	Frame_Shift_Ins	INS	-	TCGA-BQ-5877-01A-11D-1589-08	33674898	86114798	111907632	19	24734											
CCDC80	151887	hgsc.bcm.edu	37	3	112324460	112324460	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:112324460A>T	ENST00000206423.3	-	8	3610	c.2657T>A	c.(2656-2658)aTg>aAg	p.M886K	CCDC80_ENST00000439685.2_Missense_Mutation_p.M886K	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	886					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CACAATCACCATGGACCACAT	0.463																																																0													122	101	108					3																	112324460		2203	4300	6503	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2657T>A	chr3.hg19:g.112324460A>T	ENSP00000206423:p.Met886Lys		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	hg19	CCDS2968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.1|24.1	4.497724|4.497724	0.85069|0.85069	.|.	.|.	ENSG00000091986|ENSG00000091986	ENST00000461431|ENST00000206423;ENST00000439685;ENST00000444594;ENST00000479368	.|T;T;T	.|0.43688	.|0.94;0.94;0.94	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64918|0.64918	0.2642|0.2642	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58268	.|0.978;0.982	.|D;D	.|0.77004	.|0.98;0.989	T|T	0.67856|0.67856	-0.5562|-0.5562	5|10	.|0.72032	.|D	.|0.01	-33.8731|-33.8731	16.1894|16.1894	0.81975|0.81975	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|897;886	.|Q76M96-2;Q76M96	.|.;CCD80_HUMAN	Q|K	256|886;886;487;164	.|ENSP00000206423:M886K;ENSP00000411814:M886K;ENSP00000418188:M164K	.|ENSP00000206423:M886K	H|M	-|-	3|2	2|0	CCDC80|CCDC80	113807150|113807150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.287000|9.287000	0.95975|0.95975	2.222000|2.222000	0.72286|0.72286	0.477000|0.477000	0.44152|0.44152	CAT|ATG		0.463	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		T	112324460	A	T	112324460	3	4	453	1	0	0	0	0	1	0	0	0	2856	217	8	5	199	5	CCDC80	3	112324460	Missense_Mutation	SNP	A	TCGA-BQ-5877-01A-11D-1589-08	26209662	112324460	85697970	20	24735											
MCF2L2	23101	hgsc.bcm.edu	37	3	183013205	183013205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:183013205G>A	ENST00000328913.3	-	13	1855	c.1558C>T	c.(1558-1560)Caa>Taa	p.Q520*	MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.Q520*|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.Q520*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.Q520*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	520							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGACTCACTTGCCTCTTGTGA	0.468																																																0													173	146	156					3																	183013205		2203	4300	6503	SO:0001587	stop_gained	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1558C>T	chr3.hg19:g.183013205G>A	ENSP00000328118:p.Gln520*		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	hg19	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	39	7.604425	0.98384	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	.	.	.	4.82	4.82	0.62117	.	0.064498	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.1577	0.89699	0.0:0.0:1.0:0.0	.	.	.	.	X	520;520;520;56;520	.	ENSP00000328118:Q520X	Q	-	1	0	MCF2L2	184495899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.725000	0.68507	2.535000	0.85469	0.650000	0.86243	CAA		0.468	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		A	183013205	G	A	183013205	4	1	453	1	0	0	0	0	0	1	0	0	9382	1328	46	2	1858	2	MCF2L2	3	183013205	Nonsense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	70688745	183013205	15009225	21	24736											
TRIM2	23321	hgsc.bcm.edu	37	4	154249812	154249812	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr4:154249812G>A	ENST00000437508.2	+	11	2273	c.2072G>A	c.(2071-2073)aGc>aAc	p.S691N	TRIM2_ENST00000338700.5_Missense_Mutation_p.S718N	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	691					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TGGGGAAACAGCAGGATCCAG	0.418																																																0													150	142	144					4																	154249812		2203	4300	6503	SO:0001583	missense	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.2072G>A	chr4.hg19:g.154249812G>A	ENSP00000415812:p.Ser691Asn		D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	hg19	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058382	0.76074	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.71222	-0.55;-0.55	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	N	0.10664	0.02	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.74023	0.982;0.982	T	0.65709	-0.6102	10	0.11485	T	0.65	-19.2289	19.2133	0.93766	0.0:0.0:1.0:0.0	.	718;691	D3DP09;Q9C040	.;TRIM2_HUMAN	N	691;718	ENSP00000415812:S691N;ENSP00000339659:S718N	ENSP00000339659:S718N	S	+	2	0	TRIM2	154469262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.865000	0.99609	2.534000	0.85438	0.650000	0.86243	AGC		0.418	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			A	154249812	G	A	154249812	3	1	453	1	0	0	0	0	1	0	0	0	16499	971	34	2	2195	2	TRIM2	4	154249812	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08		154249812	36904464	22	24737											
FAT1	2195	hgsc.bcm.edu	37	4	187541245	187541245	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr4:187541245delT	ENST00000441802.2	-	10	6704	c.6495delA	c.(6493-6495)tcafs	p.S2165fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2165	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAACTTCCGCTGAAAAGGCCG	0.423										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													59	58	59					4																	187541245		1894	4111	6005	SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6495delA	chr4.hg19:g.187541245delT	ENSP00000406229:p.Ser2165fs			Frame_Shift_Del	DEL	ENST00000441802.2	hg19	CCDS47177.1																																																																																				0.423	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		-	187541245	T	-	187541245	7	5	453	1	0	1	0	1	0	0	0	0	5691	1567	55	0	7343	0	FAT1	4	187541245	Frame_Shift_Del	DEL	T	TCGA-BQ-5877-01A-11D-1589-08	33291433	187541245	3613031	23	24738	191	2									
FAT1	2195	hgsc.bcm.edu	37	4	187541246	187541246	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr4:187541246G>A	ENST00000441802.2	-	10	6703	c.6494C>T	c.(6493-6495)tCa>tTa	p.S2165L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2165	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AACTTCCGCTGAAAAGGCCGG	0.423										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													59	58	59					4																	187541246		1893	4111	6004	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6494C>T	chr4.hg19:g.187541246G>A	ENSP00000406229:p.Ser2165Leu			Missense_Mutation	SNP	ENST00000441802.2	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585000	0.46110	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03553	3.89	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.19927	0.0479	M	0.85099	2.735	0.80722	D	1	D	0.59767	0.986	D	0.63033	0.91	T	0.00679	-1.1613	10	0.44086	T	0.13	.	18.5902	0.91208	0.0:0.0:1.0:0.0	.	2165	Q14517	FAT1_HUMAN	L	2165;2167	ENSP00000406229:S2165L	ENSP00000260147:S2167L	S	-	2	0	FAT1	187778240	1.000000	0.71417	0.148000	0.22405	0.036000	0.12997	9.615000	0.98356	2.619000	0.88677	0.655000	0.94253	TCA		0.423	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187541246	G	A	187541246	3	1	453	1	0	0	0	0	1	0	0	0	5691	1294	45	2	7344	2	FAT1	4	187541246	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	1	187541246	3613030	24	24739	191	2									
MAP1B	4131	hgsc.bcm.edu	37	5	71479648	71479648	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr5:71479648C>A	ENST00000296755.7	+	3	663	c.365C>A	c.(364-366)aCc>aAc	p.T122N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	122					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAGTCAGCACCGAGGTAAGC	0.527																																					Melanoma(17;367 822 11631 31730 47712)											0													129	124	126					5																	71479648		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.365C>A	chr5.hg19:g.71479648C>A	ENSP00000296755:p.Thr122Asn		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846103	0.71603	.	.	ENSG00000131711	ENST00000512974;ENST00000296755;ENST00000511641	T;T;T	0.19806	3.77;2.12;2.12	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000004	T	0.44435	0.1293	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.28996	-1.0026	10	0.56958	D	0.05	-15.6336	18.9656	0.92695	0.0:1.0:0.0:0.0	.	122	P46821	MAP1B_HUMAN	N	122	ENSP00000426312:T122N;ENSP00000296755:T122N;ENSP00000423444:T122N	ENSP00000296755:T122N	T	+	2	0	MAP1B	71515404	1.000000	0.71417	0.983000	0.44433	0.241000	0.25554	7.301000	0.78850	2.543000	0.85770	0.637000	0.83480	ACC		0.527	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		A	71479648	C	A	71479648	3	1	453	1	0	0	0	0	1	0	0	0	9230	507	18	4	375	4	MAP1B	5	71479648	Missense_Mutation	SNP	C	TCGA-BQ-5877-01A-11D-1589-08		71479648	109435612	25	24740											
RGNEF	64283	hgsc.bcm.edu	37	5	73165934	73165934	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr5:73165934T>A	ENST00000426542.2	+	20	2486	c.2466T>A	c.(2464-2466)gaT>gaA	p.D822E	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.D822E|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.D822E|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.D822E|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.D822E|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.D509E|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.D822E			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	822					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TCAGCAGTGATGCCCAGGAGT	0.413																																																0													196	184	188					5																	73165934		1924	4131	6055	SO:0001583	missense	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2466T>A	chr5.hg19:g.73165934T>A	ENSP00000412175:p.Asp822Glu		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	hg19	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.182575	0.38511	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.11821	2.92;2.91;2.91;2.8;2.91;2.91;2.74	5.95	-3.02	0.05446	.	.	.	.	.	T	0.10294	0.0252	L	0.55834	1.745	0.26232	N	0.979	B;B;B;B	0.26318	0.146;0.09;0.017;0.029	B;B;B;B	0.23852	0.036;0.047;0.049;0.045	T	0.35226	-0.9797	9	0.25106	T	0.35	.	4.0067	0.09605	0.1088:0.3977:0.1124:0.3811	.	509;822;822;822	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	E	822;822;822;822;822;822;509	ENSP00000296794:D822E;ENSP00000441913:D822E;ENSP00000441436:D822E;ENSP00000287898:D822E;ENSP00000411459:D822E;ENSP00000412175:D822E;ENSP00000296799:D509E	ENSP00000287898:D822E	D	+	3	2	RP11-428C6.1	73201690	0.517000	0.26226	0.967000	0.41034	0.996000	0.88848	-0.287000	0.08388	-0.749000	0.04747	-0.250000	0.11733	GAT		0.413	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			A	73165934	T	A	73165934	3	1	453	1	0	0	0	0	1	0	0	0	13289	1461	51	5	2544	5	RGNEF	5	73165934	Missense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08	1686286	73165934	107749326	26	24741											
SNCAIP	9627	hgsc.bcm.edu	37	5	121787084	121787084	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr5:121787084T>G	ENST00000261368.8	+	10	2804	c.2542T>G	c.(2542-2544)Tcc>Gcc	p.S848A	CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.S895A|SNCAIP_ENST00000379538.3_Missense_Mutation_p.S482A|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.S450A|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S406A|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S788A|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S895A	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	848					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCAGCGGACCTCCACAAGTAA	0.463																																																0													88	92	91					5																	121787084		2203	4300	6503	SO:0001583	missense	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2542T>G	chr5.hg19:g.121787084T>G	ENSP00000261368:p.Ser848Ala		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	hg19	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.252348	0.22880	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.14266	4.35;4.88;2.57;2.52;4.88;4.81;2.52;4.56	5.69	2.03	0.26663	.	0.412591	0.28730	N	0.014337	T	0.08935	0.0221	L	0.36672	1.1	0.22737	N	0.998792	B;B;B;B;B;B;B;B	0.33777	0.3;0.048;0.252;0.264;0.425;0.264;0.264;0.104	B;B;B;B;B;B;B;B	0.31101	0.049;0.024;0.035;0.124;0.105;0.124;0.124;0.058	T	0.25257	-1.0137	10	0.31617	T	0.26	-3.6974	6.4307	0.21794	0.0:0.5607:0.0:0.4393	.	788;476;450;788;482;482;895;848	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	A	406;788;848;895;788;482;895;450	ENSP00000441681:S406A;ENSP00000422106:S788A;ENSP00000261368:S848A;ENSP00000368848:S895A;ENSP00000368851:S788A;ENSP00000368854:S482A;ENSP00000261367:S895A;ENSP00000394392:S450A	ENSP00000261367:S895A	S	+	1	0	SNCAIP	121814983	0.997000	0.39634	0.066000	0.19879	0.144000	0.21451	1.753000	0.38359	0.438000	0.26450	0.533000	0.62120	TCC		0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			G	121787084	T	G	121787084	3	3	453	1	0	0	0	0	1	0	0	0	14847	1551	54	5	2576	5	SNCAIP	5	121787084	Missense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08	48621150	121787084	59128176	27	24742											
FAT2	2196	hgsc.bcm.edu	37	5	150946163	150946163	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr5:150946163G>C	ENST00000261800.5	-	1	2342	c.2330C>G	c.(2329-2331)cCc>cGc	p.P777R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	777	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAGTCCAAGGGAGCAGCTAC	0.498																																																0													60	60	60					5																	150946163		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2330C>G	chr5.hg19:g.150946163G>C	ENSP00000261800:p.Pro777Arg		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907163	0.52333	.	.	ENSG00000086570	ENST00000261800	T	0.54071	0.59	5.78	4.91	0.64330	Cadherin (4);Cadherin-like (1);	0.317848	0.27336	N	0.019825	T	0.64227	0.2579	M	0.76002	2.32	0.35862	D	0.827587	D	0.55172	0.97	P	0.57101	0.813	T	0.69771	-0.5055	10	0.21540	T	0.41	.	12.0874	0.53706	0.1385:0.0:0.8615:0.0	.	777	Q9NYQ8	FAT2_HUMAN	R	777	ENSP00000261800:P777R	ENSP00000261800:P777R	P	-	2	0	FAT2	150926356	1.000000	0.71417	0.369000	0.25952	0.700000	0.40528	6.639000	0.74314	1.580000	0.49851	0.655000	0.94253	CCC		0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		C	150946163	G	C	150946163	3	2	453	1	0	0	0	0	1	0	0	0	5692	1232	43	4	10811	4	FAT2	5	150946163	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	29159079	150946163	29969097	28	24743											
ATP6V0E1	8992	hgsc.bcm.edu	37	5	172410944	172410944	+	Silent	SNP	C	C	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr5:172410944C>T	ENST00000519374.1	+	1	185	c.81C>T	c.(79-81)ttC>ttT	p.F27F	ATP6V0E1_ENST00000517669.1_Silent_p.F27F|ATP6V0E1_ENST00000519911.1_Silent_p.F27F|ATP6V0E1_ENST00000265093.4_Silent_p.F27F	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	27					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|response to amino acid (GO:0043200)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCCTTGGTTCATCCCTAAGG	0.647																																																0													188	172	177					5																	172410944		2203	4300	6503	SO:0001819	synonymous_variant	8992			Y15286	CCDS4383.1	5q35.2	2010-04-21	2006-10-12	2006-10-12	ENSG00000113732	ENSG00000113732		"ATPases / V-type"	863	protein-coding gene	gene with protein product		603931	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 9kD", "ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e"	ATP6H, ATP6V0E		9556572, 14970230	Standard	NM_003945		Approved	M9.2	uc003mcd.1	O15342	OTTHUMG00000130518	ENST00000519374.1:c.81C>T	chr5.hg19:g.172410944C>T			B2R557|D3DQM1|Q6IBE8	Silent	SNP	ENST00000519374.1	hg19	CCDS4383.1																																																																																				0.647	ATP6V0E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252935.2	NM_003945		T	172410944	C	T	172410944	2	4	453	1	0	0	0	0	0	0	0	1	1175	825	29	2		2	ATP6V0E1	5	172410944	Silent	SNP	C	TCGA-BQ-5877-01A-11D-1589-08	21464781	172410944	8504316	29	24744											
DSP	1832	hgsc.bcm.edu	37	6	7562980	7562980	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr6:7562980T>A	ENST00000379802.3	+	5	1034	c.693T>A	c.(691-693)taT>taA	p.Y231*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Y231*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	231	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCGGCGACTATCGCTGGCAGC	0.522																																																0													119	121	120					6																	7562980		2203	4300	6503	SO:0001587	stop_gained	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.693T>A	chr6.hg19:g.7562980T>A	ENSP00000369129:p.Tyr231*		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	39	7.901730	0.98551	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.76	-1.12	0.09808	.	0.000000	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.7621	0.51910	0.0:0.2532:0.0:0.7468	.	.	.	.	X	231;231;36	.	ENSP00000369129:Y231X	Y	+	3	2	DSP	7507979	0.948000	0.32251	0.998000	0.56505	0.948000	0.59901	0.032000	0.13732	-0.099000	0.12263	0.533000	0.62120	TAT		0.522	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		A	7562980	T	A	7562980	4	1	453	1	0	0	0	0	0	1	0	0	4783	1442	50	5	711	5	DSP	6	7562980	Nonsense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08		7562980	163552087	30	24745											
HCRTR2	3062	hgsc.bcm.edu	37	6	55142265	55142265	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr6:55142265T>C	ENST00000370862.3	+	5	1186	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	284					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCCAACGAAGTCCCGGATGAG	0.507																																																0													70	74	73					6																	55142265		2203	4300	6503	SO:0001583	missense	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.850T>C	chr6.hg19:g.55142265T>C	ENSP00000359899:p.Ser284Pro		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	hg19	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	T	9.734	1.163040	0.21538	.	.	ENSG00000137252	ENST00000370862	T	0.63580	-0.05	5.84	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.177378	0.51477	D	0.000100	T	0.28896	0.0717	L	0.44542	1.39	0.33540	D	0.594739	B	0.02656	0.0	B	0.08055	0.003	T	0.04607	-1.0939	10	0.25751	T	0.34	.	8.2143	0.31503	0.0:0.0661:0.262:0.6719	.	284	O43614	OX2R_HUMAN	P	284	ENSP00000359899:S284P	ENSP00000359899:S284P	S	+	1	0	HCRTR2	55250224	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	2.200000	0.42724	0.123000	0.18342	0.528000	0.53228	TCC		0.507	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			C	55142265	T	C	55142265	3	2	453	1	0	0	0	0	1	0	0	0	7004	1667	58	3	868	3	HCRTR2	6	55142265	Missense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08	47579285	55142265	115972802	31	24746											
AMD1	262	hgsc.bcm.edu	37	6	111213388	111213388	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr6:111213388G>A	ENST00000368885.3	+	5	788	c.452G>A	c.(451-453)cGt>cAt	p.R151H	AMD1_ENST00000368876.1_Missense_Mutation_p.R82H|AMD1_ENST00000368882.3_Missense_Mutation_p.R3H|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.R122H	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	151					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TGTATGGGACGTATGAATTCT	0.333																																																0													316	293	301					6																	111213388		2203	4300	6503	SO:0001583	missense	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.452G>A	chr6.hg19:g.111213388G>A	ENSP00000357880:p.Arg151His		E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	hg19	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816905	0.50633	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000368877;ENST00000368876	.	.	.	5.3	4.43	0.53597	S-adenosylmethionine decarboxylase, core (2);	0.108147	0.64402	D	0.000006	T	0.26011	0.0634	N	0.20304	0.555	0.58432	D	0.999999	B;B	0.24721	0.038;0.11	B;B	0.21546	0.007;0.035	T	0.13019	-1.0525	9	0.46703	T	0.11	.	12.2225	0.54441	0.0796:0.0:0.9204:0.0	.	122;151	A6NNH3;P17707	.;DCAM_HUMAN	H	151;3;122;82	.	ENSP00000357870:R82H	R	+	2	0	AMD1	111320081	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	7.503000	0.81632	1.237000	0.43756	0.491000	0.48974	CGT		0.333	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			A	111213388	G	A	111213388	3	1	453	1	0	0	0	0	1	0	0	0	566	1145	40	1	470	1	AMD1	6	111213388	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	56071123	111213388	59901679	32	24747											
FAM54A	113115	hgsc.bcm.edu	37	6	136562761	136562761	+	Missense_Mutation	SNP	C	C	T	rs150447506		TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr6:136562761C>T	ENST00000420702.1	-	5	724	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	MTFR2_ENST00000451457.2_Missense_Mutation_p.R112Q	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	112					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											CCGAACTAGTCGCAAAGGATG	0.368																																																0								C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	103	98	100		335,335	0.4	0	6	dbSNP_134	100	0,8600		0,0,4300	no	missense,missense	FAM54A	NM_001099286.1,NM_138419.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	112/386,112/386	136562761	1,13005	2203	4300	6503	SO:0001583	missense	113115			BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"DUF729 domain containing 1", "family with sequence similarity 54, member A"	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.335G>A	chr6.hg19:g.136562761C>T	ENSP00000395232:p.Arg112Gln		A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	hg19	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	C	7.761	0.705340	0.15172	2.27E-4	0.0	ENSG00000146410	ENST00000451457;ENST00000420702;ENST00000418509	T;T;T	0.40225	1.04;1.04;1.04	5.59	0.386	0.16254	.	1.138940	0.06310	N	0.702535	T	0.04543	0.0124	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	10	0.12103	T	0.63	-2.0017	7.6241	0.28202	0.0:0.1662:0.5365:0.2973	.	112	Q6P444	FA54A_HUMAN	Q	112;112;69	ENSP00000407010:R112Q;ENSP00000395232:R112Q;ENSP00000410861:R69Q	ENSP00000410861:R69Q	R	-	2	0	FAM54A	136604454	0.001000	0.12720	0.029000	0.17559	0.165000	0.22458	0.681000	0.25320	0.072000	0.16694	-1.673000	0.00743	CGA		0.368	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		T	136562761	C	T	136562761	3	4	453	1	0	0	0	0	1	0	0	0	5584	884	31	1	838	1	FAM54A	6	136562761	Missense_Mutation	SNP	C	TCGA-BQ-5877-01A-11D-1589-08	25349373	136562761	34552306	33	24748											
ABCA13	154664	hgsc.bcm.edu	37	7	48284203	48284203	+	Silent	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr7:48284203G>A	ENST00000435803.1	+	11	1317	c.1293G>A	c.(1291-1293)ttG>ttA	p.L431L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	431					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCAAAGCTTGCTGCAAAACC	0.388																																																0													58	57	57					7																	48284203		1824	4082	5906	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1293G>A	chr7.hg19:g.48284203G>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	hg19	CCDS47584.1																																																																																				0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48284203	G	A	48284203	2	1	453	1	0	0	0	0	0	0	0	1	31	1310	46	2		2	ABCA13	7	48284203	Silent	SNP	G	TCGA-BQ-5877-01A-11D-1589-08		48284203	110854460	34	24749											
XKR4	114786	hgsc.bcm.edu	37	8	56015502	56015504	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	GTG	GTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr8:56015502_56015504delGTG	ENST00000327381.6	+	1	554_556	c.454_456delGTG	c.(454-456)gtgdel	p.V153del		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	153						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCTTCTTCGTGGTGCTCGGCT	0.655																																																0																																										SO:0001651	inframe_deletion	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.454_456delGTG	chr8.hg19:g.56015505_56015507delGTG	ENSP00000328326:p.Val153del		Q96PZ8	In_Frame_Del	DEL	ENST00000327381.6	hg19	CCDS34893.1																																																																																				0.655	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		-	56015504	GTG	-	56015502	7	5	453	1	0	1	0	1	0	0	0	0	17438	1145	40	0	456	0	XKR4	8	56015502	In_Frame_Del	DEL	GTG	TCGA-BQ-5877-01A-11D-1589-08		56015502	90348520	35	24750											
TG	7038	hgsc.bcm.edu	37	8	133898849	133898849	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr8:133898849delC	ENST00000220616.4	+	9	1272	c.1232delC	c.(1231-1233)acgfs	p.T411fs	TG_ENST00000377869.1_Frame_Shift_Del_p.T411fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	411					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCCCACCCACGATCAAGGAG	0.537																																																0													144	152	150					8																	133898849		2203	4300	6503	SO:0001589	frameshift_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1232delC	chr8.hg19:g.133898849delC	ENSP00000220616:p.Thr411fs		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	hg19	CCDS34944.1																																																																																				0.537	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		-	133898849	C	-	133898849	7	5	453	1	0	1	0	1	0	0	0	0	15818	536	19	0	1266	0	TG	8	133898849	Frame_Shift_Del	DEL	C	TCGA-BQ-5877-01A-11D-1589-08	77883347	133898849	12465173	36	24751											
SPINK4	27290	hgsc.bcm.edu	37	9	33246702	33246702	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr9:33246702A>G	ENST00000379721.3	+	3	236	c.191A>G	c.(190-192)gAa>gGa	p.E64G	SPINK4_ENST00000379725.1_Missense_Mutation_p.E87G|SPINK4_ENST00000379723.1_Missense_Mutation_p.E87G	NM_014471.1	NP_055286.1	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	64	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				response to drug (GO:0042493)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			TATACGAATGAATGCCAGCTC	0.552																																																0													173	145	154					9																	33246702		2203	4300	6503	SO:0001583	missense	27290			AF048700	CCDS6536.1	9p13.3	2011-08-31	2005-08-17		ENSG00000122711	ENSG00000122711		"Serine peptidase inhibitors, Kazal type"	16646	protein-coding gene	gene with protein product		613929	"serine protease inhibitor, Kazal type 4"			1400298, 17333166	Standard	NM_014471		Approved	PEC-60, MGC133107	uc003zsh.3	O60575	OTTHUMG00000019762	ENST00000379721.3:c.191A>G	chr9.hg19:g.33246702A>G	ENSP00000369045:p.Glu64Gly		Q2YDT7	Missense_Mutation	SNP	ENST00000379721.3	hg19	CCDS6536.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.738172	0.49045	.	.	ENSG00000122711	ENST00000379725;ENST00000379723;ENST00000379721	T;T;T	0.79554	-1.28;-1.28;-1.28	4.81	4.81	0.61882	Proteinase inhibitor I1, Kazal (3);	0.000000	0.64402	D	0.000001	D	0.86698	0.5995	.	.	.	0.46564	D	0.999105	D	0.58620	0.983	P	0.60473	0.875	D	0.88001	0.2756	9	0.87932	D	0	-33.3681	10.9375	0.47253	1.0:0.0:0.0:0.0	.	64	O60575	ISK4_HUMAN	G	87;87;64	ENSP00000369048:E87G;ENSP00000369046:E87G;ENSP00000369045:E64G	ENSP00000369045:E64G	E	+	2	0	SPINK4	33236702	1.000000	0.71417	0.995000	0.50966	0.167000	0.22549	4.175000	0.58263	2.165000	0.68154	0.379000	0.24179	GAA		0.552	SPINK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052035.1	NM_014471		G	33246702	A	G	33246702	3	3	453	1	0	0	0	0	1	0	0	0	15066	246	9	3	201	3	SPINK4	9	33246702	Missense_Mutation	SNP	A	TCGA-BQ-5877-01A-11D-1589-08		33246702	107966729	37	24752											
PCDH15	65217	hgsc.bcm.edu	37	10	55626411	55626411	+	Silent	SNP	G	G	A	rs374185988		TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr10:55626411G>A	ENST00000320301.6	-	27	4102	c.3708C>T	c.(3706-3708)gcC>gcT	p.A1236A	PCDH15_ENST00000361849.3_Silent_p.A1236A|PCDH15_ENST00000395433.1_Silent_p.A1214A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Silent_p.A1165A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.A1241A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Silent_p.A1243A|PCDH15_ENST00000395430.1_Silent_p.A1236A|PCDH15_ENST00000409834.1_Silent_p.A847A|PCDH15_ENST00000395432.2_Silent_p.A1199A|PCDH15_ENST00000373965.2_Silent_p.A1243A|PCDH15_ENST00000395438.1_Silent_p.A1236A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1236	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CGAGTACATCGGCTTTGCCGC	0.383										HNSCC(58;0.16)																																						0								G	,,,,,,,,,,,	0,4406		0,0,2203	94	81	86		3723,3708,3495,3708,3597,3642,3744,3708,3723,3708,3642,3708	-2.8	1	10		86	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	,,,,,,,,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,,,,,	1241/1963,1236/1958,1165/1887,1236/1953,1199/1916,1214/1936,1248/1791,1236/1540,1241/1683,1236/1678,1214/1933,1236/1956	55626411	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3708C>T	chr10.hg19:g.55626411G>A			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	hg19	CCDS7248.1																																																																																				0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55626411	G	A	55626411	2	1	453	1	0	0	0	0	0	0	0	1	11513	1103	39	1		1	PCDH15	10	55626411	Silent	SNP	G	TCGA-BQ-5877-01A-11D-1589-08		55626411	79908336	38	24753											
TTC18	118491	hgsc.bcm.edu	37	10	75037057	75037057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr10:75037057G>A	ENST00000310715.3	-	22	2791	c.2671C>T	c.(2671-2673)Caa>Taa	p.Q891*	TTC18_ENST00000401621.2_Nonsense_Mutation_p.Q891*|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_Nonsense_Mutation_p.Q360*|RNU6-833P_ENST00000363486.1_RNA|TTC18_ENST00000394865.1_Nonsense_Mutation_p.Q891*|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		891						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GTGGTAGTTTGAGAAACACCA	0.378																																																0													127	123	124					10																	75037057		2203	4300	6503	SO:0001587	stop_gained	118491																														ENST00000310715.3:c.2671C>T	chr10.hg19:g.75037057G>A	ENSP00000310829:p.Gln891*		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Nonsense_Mutation	SNP	ENST00000310715.3	hg19	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	39	7.846379	0.98522	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	.	.	.	5.62	4.66	0.58398	.	0.570630	0.17764	N	0.162782	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	1.6662	11.0106	0.47661	0.0:0.0:0.8145:0.1855	.	.	.	.	X	891;891;891;298;891	.	ENSP00000310829:Q891X	Q	-	1	0	TTC18	74707063	0.996000	0.38824	0.998000	0.56505	0.827000	0.46813	3.669000	0.54561	2.642000	0.89623	0.655000	0.94253	CAA		0.378	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	75037057	G	A	75037057	4	1	453	1	0	0	0	0	0	1	0	0	16690	1299	45	2	722	2	TTC18	10	75037057	Nonsense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	19410646	75037057	60497690	39	24754											
C10orf79	80217	hgsc.bcm.edu	37	10	105944865	105944865	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr10:105944865G>T	ENST00000278064.2	-	16	2168	c.1843C>A	c.(1843-1845)Cat>Aat	p.H615N	WDR96_ENST00000357060.3_Missense_Mutation_p.H684N|WDR96_ENST00000428666.1_Missense_Mutation_p.H685N														p.H684Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGAATCCCATGACCCTGGTGA	0.403																																																1	Substitution - Missense(1)	lung(1)											174	152	160					10																	105944865		2203	4300	6503	SO:0001583	missense	80217																														ENST00000278064.2:c.1843C>A	chr10.hg19:g.105944865G>T	ENSP00000278064:p.His615Asn			Missense_Mutation	SNP	ENST00000278064.2	hg19		.	.	.	.	.	.	.	.	.	.	G	0.191	-1.053696	0.01965	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064	T;T;T	0.12879	2.65;2.64;2.66	5.24	3.28	0.37604	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.001350	0.08054	N	0.997084	T	0.16300	0.0392	L	0.57536	1.79	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.003	T	0.06881	-1.0802	10	0.51188	T	0.08	.	9.3605	0.38192	0.0:0.2545:0.6054:0.1402	.	685;684	B4DHB6;Q8NDM7	.;WDR96_HUMAN	N	684;685;615	ENSP00000349568:H684N;ENSP00000400289:H685N;ENSP00000278064:H615N	ENSP00000278064:H615N	H	-	1	0	WDR96	105934855	0.000000	0.05858	0.014000	0.15608	0.983000	0.72400	0.646000	0.24797	2.439000	0.82584	0.655000	0.94253	CAT		0.403	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			T	105944865	G	T	105944865	3	4	453	1	0	0	0	0	1	0	0	0	1620	1290	45	4	3039	4	C10orf79	10	105944865	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	30907808	105944865	29589882	40	24755											
EBF3	253738	hgsc.bcm.edu	37	10	131755589	131755589	+	Splice_Site	DEL	G	G	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr10:131755589delG	ENST00000355311.5	-	6	559	c.487delC	c.(487-489)cgg>gg	p.R163fs	EBF3_ENST00000368648.3_Splice_Site_p.R163fs			Q9H4W6	COE3_HUMAN	early B-cell factor 3	163		Interaction with DNA. {ECO:0000250}.			multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCACAGCACCGGCTGTGGAGC	0.388																																																0													127	119	121					10																	131755589		2203	4300	6503	SO:0001630	splice_region_variant	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.486-1C>-	chr10.hg19:g.131755589delG			A0AUY1|Q5T6H9|Q9H4W5	Frame_Shift_Del	DEL	ENST00000355311.5	hg19																																																																																					0.388	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463	Frame_Shift_Del	-	131755589	G	-	131755589	8	5	453	1	0	1	0	1	0	0	1	0	4884	1130	39	0	1212	0	EBF3	10	131755589	Splice_Site	DEL	G	TCGA-BQ-5877-01A-11D-1589-08	25810724	131755589	3779158	41	24756											
LSP1	4046	hgsc.bcm.edu	37	11	1907965	1907965	+	Missense_Mutation	SNP	G	G	T	rs370626038		TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr11:1907965G>T	ENST00000311604.3	+	8	896	c.721G>T	c.(721-723)Gct>Tct	p.A241S	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000405957.2_Missense_Mutation_p.A179S|LSP1_ENST00000381775.1_Missense_Mutation_p.A369S|LSP1_ENST00000406638.2_Missense_Mutation_p.A179S	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	241					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TCTGCAGACCGCTGGCCGGAC	0.602																																																0													76	81	79					11																	1907965		2202	4299	6501	SO:0001583	missense	4046			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.721G>T	chr11.hg19:g.1907965G>T	ENSP00000308383:p.Ala241Ser		B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	hg19	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.516709	0.00151	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000457279;ENST00000406638;ENST00000417766;ENST00000432093	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	3.3	1.31	0.21738	.	0.438819	0.16421	N	0.215179	T	0.19565	0.0470	N	0.16307	0.4	0.09310	N	0.99999	B;B	0.33299	0.407;0.039	B;B	0.37387	0.248;0.056	T	0.25813	-1.0121	10	0.02654	T	1	-10.7455	10.0636	0.42290	0.0:0.0:0.3863:0.6137	.	369;241	E9PFP3;P33241	.;LSP1_HUMAN	S	241;369;179;232;179;179;179	ENSP00000308383:A241S;ENSP00000371194:A369S;ENSP00000383932:A179S;ENSP00000400346:A232S;ENSP00000384022:A179S;ENSP00000416363:A179S;ENSP00000412405:A179S	ENSP00000308383:A241S	A	+	1	0	LSP1	1864541	0.342000	0.24809	0.255000	0.24374	0.071000	0.16799	1.196000	0.32198	0.203000	0.20529	-0.493000	0.04662	GCT		0.602	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		T	1907965	G	T	1907965	3	4	453	1	0	0	0	0	1	0	0	0	9065	1087	38	4	751	4	LSP1	11	1907965	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08		1907965	133098551	42	24757											
TNKS1BP1	85456	hgsc.bcm.edu	37	11	57080232	57080232	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr11:57080232G>T	ENST00000532437.1	-	4	2241	c.1930C>A	c.(1930-1932)Ctg>Atg	p.L644M	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L644M|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	644	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCAACAGGCAGTGCCTGTCCA	0.652																																																0													40	43	42					11																	57080232		2201	4296	6497	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1930C>A	chr11.hg19:g.57080232G>T	ENSP00000437271:p.Leu644Met		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	hg19	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	3.119	-0.180918	0.06380	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33865	1.39;1.39	3.52	-7.04	0.01578	.	0.599176	0.12691	N	0.447197	T	0.14743	0.0356	L	0.27053	0.805	0.09310	N	1	B	0.32101	0.356	B	0.28305	0.088	T	0.11991	-1.0565	10	0.32370	T	0.25	-3.6489	2.1814	0.03876	0.1527:0.1225:0.4815:0.2434	.	644	Q9C0C2	TB182_HUMAN	M	644	ENSP00000350990:L644M;ENSP00000437271:L644M	ENSP00000350990:L644M	L	-	1	2	TNKS1BP1	56836808	0.000000	0.05858	0.005000	0.12908	0.035000	0.12851	-1.072000	0.03434	-0.816000	0.04340	0.455000	0.32223	CTG		0.652	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		T	57080232	G	T	57080232	3	4	453	1	0	0	0	0	1	0	0	0	16325	1020	36	4	3287	4	TNKS1BP1	11	57080232	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	55172267	57080232	77926284	43	24758											
CACNA1C	775	hgsc.bcm.edu	37	12	2760913	2760913	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr12:2760913G>T	ENST00000347598.4	+	34	4197	c.4197G>T	c.(4195-4197)tgG>tgT	p.W1399C	CACNA1C_ENST00000399629.1_Missense_Mutation_p.W1368C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.W1373C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.W1340C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.W1351C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.W1351C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.W1376C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.W1379C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.W1351C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.W1351C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.W1351C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.W1351C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.W1351C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.W1338C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.W1351C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.W1351C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.W1371C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.W1351C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.W1351C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.W1340C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.W1351C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.W1351C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1399					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCTGCTGTGGACCTTCATCA	0.632																																																0													44	53	50					12																	2760913		2195	4295	6490	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4197G>T	chr12.hg19:g.2760913G>T	ENSP00000266376:p.Trp1399Cys		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274714	0.80580	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97	5.17	4.27	0.50696	Ion transport (1);	0.125129	0.64402	D	0.000017	D	0.99275	0.9747	H	0.97186	3.955	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.995;0.999;0.998;0.995;0.995;0.996;0.999;0.999;0.995;0.995;0.999;0.999;0.999;0.998;0.995;1.0;0.999;0.997;0.995;0.999;0.999;0.995;0.995	D	0.98781	1.0732	10	0.87932	D	0	.	13.5755	0.61873	0.0758:0.0:0.9242:0.0	.	42;1373;1348;1399;1351;1351;1351;1368;1379;1351;1371;1351;1311;1399;1351;1351;1351;1340;1338;1340;1340;1351;1351;1351;1351	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1376;1351;1351;1379;1351;1351;1351;1340;1351;1399;1371;1351;1373;1368;1351;1338;1351;1351;1351;1351;1351;1340;1181	ENSP00000336982:W1376C;ENSP00000382563:W1351C;ENSP00000382552:W1351C;ENSP00000382547:W1379C;ENSP00000382506:W1351C;ENSP00000382530:W1351C;ENSP00000382546:W1351C;ENSP00000382500:W1340C;ENSP00000382549:W1351C;ENSP00000266376:W1399C;ENSP00000382515:W1371C;ENSP00000382510:W1351C;ENSP00000341092:W1373C;ENSP00000382537:W1368C;ENSP00000329877:W1351C;ENSP00000382557:W1338C;ENSP00000385724:W1351C;ENSP00000382512:W1351C;ENSP00000382542:W1351C;ENSP00000382526:W1351C;ENSP00000385896:W1351C;ENSP00000382504:W1340C	ENSP00000323129:W1181C	W	+	3	0	CACNA1C	2631174	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.805000	0.99149	1.171000	0.42768	0.491000	0.48974	TGG		0.632	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2760913	G	T	2760913	3	4	453	1	0	0	0	0	1	0	0	0	2542	1183	41	4	4505	4	CACNA1C	12	2760913	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08		2760913	131090982	44	24759											
GPR133	283383	hgsc.bcm.edu	37	12	131439188	131439188	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr12:131439188G>C	ENST00000261654.5	+	2	645	c.86G>C	c.(85-87)aGa>aCa	p.R29T	GPR133_ENST00000535015.1_Missense_Mutation_p.R29T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	29					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GTCTACTCCAGATCGCAGGAC	0.562																																																0													114	98	103					12																	131439188		2203	4300	6503	SO:0001583	missense	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.86G>C	chr12.hg19:g.131439188G>C	ENSP00000261654:p.Arg29Thr		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	hg19	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695276	0.30052	.	.	ENSG00000111452	ENST00000261654;ENST00000543826;ENST00000542091;ENST00000535015	T;T	0.41400	1.0;1.03	4.42	1.96	0.26148	.	0.754074	0.11519	N	0.555971	T	0.33673	0.0871	L	0.56769	1.78	0.09310	N	1	B;B	0.29432	0.244;0.118	B;B	0.26770	0.073;0.023	T	0.37798	-0.9690	10	0.72032	D	0.01	.	2.9661	0.05908	0.2203:0.2806:0.4991:0.0	.	29;29	B7ZLF7;Q6QNK2	.;GP133_HUMAN	T	29	ENSP00000261654:R29T;ENSP00000444425:R29T	ENSP00000261654:R29T	R	+	2	0	GPR133	130005141	0.001000	0.12720	0.007000	0.13788	0.055000	0.15305	0.979000	0.29500	2.023000	0.59567	0.561000	0.74099	AGA		0.562	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		C	131439188	G	C	131439188	3	2	453	1	0	0	0	0	1	0	0	0	6645	942	33	4	92	4	GPR133	12	131439188	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	128678275	131439188	2412707	45	24760											
JPH4	84502	hgsc.bcm.edu	37	14	24040204	24040204	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:24040204C>G	ENST00000397118.3	-	6	2638	c.1736G>C	c.(1735-1737)gGt>gCt	p.G579A	JPH4_ENST00000356300.4_Missense_Mutation_p.G579A|AP1G2_ENST00000308724.5_5'Flank|RP11-66N24.3_ENST00000555968.1_RNA|JPH4_ENST00000544177.1_Missense_Mutation_p.G244A	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	579					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGCATCAGGACCCCTCGAGGA	0.687																																																0													31	33	32					14																	24040204		2203	4299	6502	SO:0001583	missense	84502			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1736G>C	chr14.hg19:g.24040204C>G	ENSP00000380307:p.Gly579Ala		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	hg19	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792770	0.31685	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.54866	0.55;0.55;0.93	4.93	0.601	0.17529	.	0.326972	0.16970	U	0.192130	T	0.27419	0.0673	N	0.12182	0.205	0.26864	N	0.967898	B;B	0.11235	0.004;0.001	B;B	0.11329	0.006;0.002	T	0.17410	-1.0370	10	0.16420	T	0.52	.	6.9268	0.24419	0.3209:0.3658:0.3132:0.0	.	244;579	F5H1L9;Q96JJ6	.;JPH4_HUMAN	A	579;579;579;580;244	ENSP00000348648:G579A;ENSP00000380307:G579A;ENSP00000439562:G244A	ENSP00000267407:G580A	G	-	2	0	JPH4	23110044	0.797000	0.28877	0.998000	0.56505	0.975000	0.68041	0.344000	0.19962	0.546000	0.28920	-0.152000	0.13540	GGT		0.687	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		G	24040204	C	G	24040204	3	3	453	1	0	0	0	0	1	0	0	0	7965	507	18	4	158	4	JPH4	14	24040204	Missense_Mutation	SNP	C	TCGA-BQ-5877-01A-11D-1589-08		24040204	83309336	46	24761											
NYNRIN	57523	hgsc.bcm.edu	37	14	24885007	24885007	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:24885007delC	ENST00000382554.3	+	9	4370	c.4052delC	c.(4051-4053)accfs	p.T1351fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1351					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TACACGCCAACCTATGCCCAC	0.602																																																0													95	101	99					14																	24885007		2016	4157	6173	SO:0001589	frameshift_variant	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4052delC	chr14.hg19:g.24885007delC	ENSP00000371994:p.Thr1351fs		Q6P153|Q86TR3|Q9HAC4	Frame_Shift_Del	DEL	ENST00000382554.3	hg19	CCDS45090.1																																																																																				0.602	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			-	24885007	C	-	24885007	7	5	453	1	0	1	0	1	0	0	0	0	10798	507	18	0	4082	0	NYNRIN	14	24885007	Frame_Shift_Del	DEL	C	TCGA-BQ-5877-01A-11D-1589-08	844803	24885007	82464533	47	24762											
FBXO33	254170	hgsc.bcm.edu	37	14	39868808	39868808	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:39868808G>A	ENST00000298097.7	-	4	1917	c.1580C>T	c.(1579-1581)gCa>gTa	p.A527V	FBXO33_ENST00000554190.1_3'UTR	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	527					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		GTCCATGACTGCATGCCAAGG	0.438																																																0													127	98	108					14																	39868808		2203	4300	6503	SO:0001583	missense	254170			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.1580C>T	chr14.hg19:g.39868808G>A	ENSP00000298097:p.Ala527Val		Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	ENST00000298097.7	hg19	CCDS9677.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347997	0.61183	.	.	ENSG00000165355	ENST00000298097	T	0.34072	1.38	5.85	5.85	0.93711	.	0.051431	0.85682	D	0.000000	T	0.38108	0.1028	N	0.14661	0.345	0.80722	D	1	D	0.60575	0.988	P	0.54759	0.76	T	0.09885	-1.0654	9	.	.	.	-19.5419	20.1542	0.98100	0.0:0.0:1.0:0.0	.	527	Q7Z6M2	FBX33_HUMAN	V	527	ENSP00000298097:A527V	.	A	-	2	0	FBXO33	38938559	1.000000	0.71417	0.508000	0.27688	0.970000	0.65996	9.124000	0.94394	2.767000	0.95098	0.563000	0.77884	GCA		0.438	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			A	39868808	G	A	39868808	3	1	453	1	0	0	0	0	1	0	0	0	5745	1319	46	2	91	2	FBXO33	14	39868808	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	14983801	39868808	67480732	48	24763											
NUMB	8650	hgsc.bcm.edu	37	14	73750966	73750966	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:73750966G>A	ENST00000355058.3	-	10	1050	c.772C>T	c.(772-774)Cct>Tct	p.P258S	NUMB_ENST00000555394.1_Missense_Mutation_p.P258S|NUMB_ENST00000554546.1_Missense_Mutation_p.P247S|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000359560.3_Missense_Mutation_p.P247S|NUMB_ENST00000535282.1_Missense_Mutation_p.P247S|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.P247S|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555238.1_Missense_Mutation_p.P258S|NUMB_ENST00000556772.1_Missense_Mutation_p.P114S|NUMB_ENST00000356296.4_Missense_Mutation_p.P258S			P49757	NUMB_HUMAN	numb homolog (Drosophila)	258					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ATGGCATGAGGATTGTTCATC	0.542																																																0													177	165	169					14																	73750966		2203	4300	6503	SO:0001583	missense	8650			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.772C>T	chr14.hg19:g.73750966G>A	ENSP00000347169:p.Pro258Ser		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	ENST00000355058.3	hg19	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596077	0.86953	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000535282;ENST00000326018;ENST00000555859;ENST00000555307;ENST00000554394	T;T;T;T;T;T;T;T;T;T;T	0.66815	0.28;0.24;0.66;0.66;1.27;0.66;0.66;0.24;0.66;-0.23;-0.23	5.39	5.39	0.77823	NUMB domain (1);	0.000000	0.85682	D	0.000000	T	0.76564	0.4005	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	1.0;0.998;0.999;0.992;0.992;0.98	T	0.77616	-0.2521	10	0.66056	D	0.02	-12.4282	19.34	0.94337	0.0:0.0:1.0:0.0	.	4;247;247;258;247;258	B1P2N9;B2RCI6;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;NUMB_HUMAN	S	247;258;247;258;114;258;247;258;247;222;222;258;258	ENSP00000452416:P247S;ENSP00000348644:P258S;ENSP00000451117:P247S;ENSP00000451300:P258S;ENSP00000451513:P114S;ENSP00000347169:P258S;ENSP00000352563:P247S;ENSP00000451625:P258S;ENSP00000441258:P247S;ENSP00000452357:P258S;ENSP00000451374:P258S	ENSP00000315193:P222S	P	-	1	0	NUMB	72820719	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.343000	0.72986	2.808000	0.96608	0.655000	0.94253	CCT		0.542	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			A	73750966	G	A	73750966	3	1	453	1	0	0	0	0	1	0	0	0	10753	1174	41	2	1199	2	NUMB	14	73750966	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	33882158	73750966	33598574	49	24764											
CLMN	79789	hgsc.bcm.edu	37	14	95660233	95660233	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:95660233C>G	ENST00000298912.4	-	12	2906	c.2793G>C	c.(2791-2793)ttG>ttC	p.L931F	CLMN_ENST00000557215.1_5'UTR|CLMN_ENST00000556441.1_5'UTR	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	931					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTGCGTTCCTCAACTGAACAT	0.373																																																0													116	111	112					14																	95660233		2203	4300	6503	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2793G>C	chr14.hg19:g.95660233C>G	ENSP00000298912:p.Leu931Phe		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	hg19	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211197	0.58343	.	.	ENSG00000165959	ENST00000298912	D	0.93426	-3.22	4.77	3.87	0.44632	.	0.800724	0.10248	N	0.697563	D	0.94571	0.8251	M	0.64997	1.995	0.80722	D	1	D	0.59767	0.986	P	0.56916	0.809	D	0.91007	0.4847	10	0.46703	T	0.11	.	10.1749	0.42933	0.1987:0.8012:0.0:0.0	.	931	Q96JQ2	CLMN_HUMAN	F	931	ENSP00000298912:L931F	ENSP00000298912:L931F	L	-	3	2	CLMN	94729986	0.998000	0.40836	0.922000	0.36590	0.861000	0.49209	3.347000	0.52200	1.223000	0.43536	-0.314000	0.08810	TTG		0.373	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			G	95660233	C	G	95660233	3	3	453	1	0	0	0	0	1	0	0	0	3544	825	29	4	223	4	CLMN	14	95660233	Missense_Mutation	SNP	C	TCGA-BQ-5877-01A-11D-1589-08	21909267	95660233	11689307	50	24765											
AK7	122481	hgsc.bcm.edu	37	14	96924426	96924426	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:96924426A>T	ENST00000267584.4	+	12	1278	c.1234A>T	c.(1234-1236)Att>Ttt	p.I412F		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	412	Adenylate kinase.|NMPbind. {ECO:0000250}.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GCAGGAGGCGATTGTTGCCCC	0.493																																																0													98	86	90					14																	96924426		2203	4300	6503	SO:0001583	missense	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1234A>T	chr14.hg19:g.96924426A>T	ENSP00000267584:p.Ile412Phe		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	hg19	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	A	3.590	-0.083768	0.07141	.	.	ENSG00000140057	ENST00000267584	D	0.92858	-3.12	4.89	2.31	0.28768	.	0.577652	0.18744	N	0.132380	D	0.85418	0.5692	L	0.29908	0.895	0.09310	N	0.999999	B	0.13594	0.008	B	0.24394	0.053	T	0.76263	-0.3023	10	0.52906	T	0.07	-2.9231	7.0702	0.25173	0.7494:0.1595:0.0911:0.0	.	412	Q96M32	KAD7_HUMAN	F	412	ENSP00000267584:I412F	ENSP00000267584:I412F	I	+	1	0	AK7	95994179	0.939000	0.31865	0.041000	0.18516	0.049000	0.14656	2.486000	0.45259	0.720000	0.32209	0.260000	0.18958	ATT		0.493	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			T	96924426	A	T	96924426	3	4	453	1	0	0	0	0	1	0	0	0	444	333	12	5	1280	5	AK7	14	96924426	Missense_Mutation	SNP	A	TCGA-BQ-5877-01A-11D-1589-08	1264193	96924426	10425114	51	24766											
DUOX1	53905	hgsc.bcm.edu	37	15	45445603	45445603	+	Silent	SNP	G	G	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr15:45445603G>C	ENST00000321429.4	+	27	3857	c.3450G>C	c.(3448-3450)gtG>gtC	p.V1150V	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000559221.1_3'UTR|DUOX1_ENST00000561166.1_Silent_p.V796V|DUOX1_ENST00000389037.3_Silent_p.V1150V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1150	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCATGTGGTGAATGTGTACC	0.547																																																0													311	237	262					15																	45445603		2198	4298	6496	SO:0001819	synonymous_variant	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3450G>C	chr15.hg19:g.45445603G>C			A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	hg19	CCDS32221.1																																																																																				0.547	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		C	45445603	G	C	45445603	2	2	453	1	0	0	0	0	0	0	0	1	4802	1277	45	4		4	DUOX1	15	45445603	Silent	SNP	G	TCGA-BQ-5877-01A-11D-1589-08		45445603	57085789	52	24767											
CILP	8483	hgsc.bcm.edu	37	15	65490142	65490142	+	Silent	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr15:65490142G>A	ENST00000261883.4	-	9	2648	c.2482C>T	c.(2482-2484)Ctg>Ttg	p.L828L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	828					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCCCAGCCAGGCTTGCCAAG	0.557																																																0													63	57	59					15																	65490142		2200	4295	6495	SO:0001819	synonymous_variant	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2482C>T	chr15.hg19:g.65490142G>A			B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	hg19	CCDS10203.1																																																																																				0.557	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		A	65490142	G	A	65490142	2	1	453	1	0	0	0	0	0	0	0	1	3431	991	35	2		2	CILP	15	65490142	Silent	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	20044539	65490142	37041250	53	24768											
SRRM2	23524	hgsc.bcm.edu	37	16	2817459	2817459	+	Silent	SNP	T	T	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:2817459T>C	ENST00000301740.8	+	11	7479	c.6930T>C	c.(6928-6930)agT>agC	p.S2310S	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2310	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGCTCTGAGTCTCACAGGCT	0.622																																																0													162	169	166					16																	2817459		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6930T>C	chr16.hg19:g.2817459T>C			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	hg19	CCDS32373.1																																																																																				0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			C	2817459	T	C	2817459	2	2	453	1	0	0	0	0	0	0	0	1	15174	1664	58	3		3	SRRM2	16	2817459	Silent	SNP	T	TCGA-BQ-5877-01A-11D-1589-08		2817459	87537294	54	24769											
MEFV	4210	hgsc.bcm.edu	37	16	3297239	3297240	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:3297239_3297240insT	ENST00000219596.1	-	5	1402_1403	c.1363_1364insA	c.(1363-1365)actfs	p.T455fs	MEFV_ENST00000339854.4_Frame_Shift_Ins_p.T275fs|MEFV_ENST00000536379.1_Frame_Shift_Ins_p.T244fs|MEFV_ENST00000541159.1_Frame_Shift_Ins_p.T244fs	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	455	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAGCGCTTCAGTTTGTTTCTGG	0.594																																																0																																										SO:0001589	frameshift_variant	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1364dupA	chr16.hg19:g.3297242_3297242dupT	ENSP00000219596:p.Thr455fs		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Frame_Shift_Ins	INS	ENST00000219596.1	hg19	CCDS10498.1																																																																																				0.594	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		T	3297240	-	T	3297239	7	5	453	1	0	1	1	0	0	0	0	0	9461	1029	36	0	1005	0	MEFV	16	3297239	Frame_Shift_Ins	INS	-	TCGA-BQ-5877-01A-11D-1589-08	479780	3297239	87057514	55	24770											
ANKS4B	257629	hgsc.bcm.edu	37	16	21261659	21261659	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:21261659G>A	ENST00000311620.5	+	2	845	c.772G>A	c.(772-774)Ggc>Agc	p.G258S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	258					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGAGGAGGACGGCAGTGTGCA	0.478																																																0													105	113	111					16																	21261659		2087	4214	6301	SO:0001583	missense	257629			AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.772G>A	chr16.hg19:g.21261659G>A	ENSP00000308772:p.Gly258Ser			Missense_Mutation	SNP	ENST00000311620.5	hg19	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	A	3.131	-0.178370	0.06380	.	.	ENSG00000175311	ENST00000311620	T	0.39997	1.05	5.77	-1.61	0.08399	.	1.096410	0.06713	N	0.773573	T	0.22513	0.0543	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29549	-1.0008	10	0.08179	T	0.78	0.0056	16.0383	0.80645	0.3534:0.0:0.6466:0.0	.	258	Q8N8V4	ANS4B_HUMAN	S	258	ENSP00000308772:G258S	ENSP00000308772:G258S	G	+	1	0	ANKS4B	21169160	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	0.038000	0.13862	-0.644000	0.05465	-0.332000	0.08345	GGC		0.478	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		A	21261659	G	A	21261659	3	1	453	1	0	0	0	0	1	0	0	0	691	1116	39	1	778	1	ANKS4B	16	21261659	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	17964420	21261659	69093094	56	24771											
SALL1	6299	hgsc.bcm.edu	37	16	51174769	51174769	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:51174769G>C	ENST00000251020.4	-	2	1397	c.1364C>G	c.(1363-1365)gCg>gGg	p.A455G	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.A358G|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	455					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAAGACCTTCGCGCAGAACCT	0.512																																					GBM(103;1352 1446 1855 4775 8890)											0													104	96	99					16																	51174769		2198	4300	6498	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1364C>G	chr16.hg19:g.51174769G>C	ENSP00000251020:p.Ala455Gly		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	hg19	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550286	0.27739	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07800	3.16;3.16	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048774	0.85682	D	0.000000	T	0.05090	0.0136	N	0.11560	0.145	0.58432	D	0.999992	B	0.17667	0.023	B	0.13407	0.009	T	0.17899	-1.0354	10	0.02654	T	1	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	455	Q9NSC2	SALL1_HUMAN	G	455;358;419	ENSP00000251020:A455G;ENSP00000407914:A358G	ENSP00000251020:A455G	A	-	2	0	SALL1	49732270	1.000000	0.71417	0.817000	0.32601	0.990000	0.78478	6.217000	0.72218	2.386000	0.81285	0.563000	0.77884	GCG		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		C	51174769	G	C	51174769	3	2	453	1	0	0	0	0	1	0	0	0	13816	1087	38	4	2618	4	SALL1	16	51174769	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	29913110	51174769	39179984	57	24772											
IRX5	10265	hgsc.bcm.edu	37	16	54966812	54966813	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:54966812_54966813delGC	ENST00000394636.4	+	2	989_990	c.652_653delGC	c.(652-654)gcafs	p.A218fs	IRX5_ENST00000320990.5_Frame_Shift_Del_p.A218fs|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Frame_Shift_Del_p.A152fs			P78411	IRX5_HUMAN	iroquois homeobox 5	218					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGGCCCCGAAGCAGGTTGGTGG	0.649																																																0																																										SO:0001589	frameshift_variant	10265			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.652_653delGC	chr16.hg19:g.54966812_54966813delGC	ENSP00000378132:p.Ala218fs		H0YMS7|P78416|Q7Z2E1	Frame_Shift_Del	DEL	ENST00000394636.4	hg19	CCDS10751.1																																																																																				0.649	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			-	54966813	GC	-	54966812	7	5	453	1	0	1	0	1	0	0	0	0	7849	971	34	0	658	0	IRX5	16	54966812	Frame_Shift_Del	DEL	GC	TCGA-BQ-5877-01A-11D-1589-08	3792043	54966812	35387941	58	24773											
SLC6A2	6530	hgsc.bcm.edu	37	16	55705980	55705980	+	Silent	SNP	C	C	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:55705980C>T	ENST00000379906.2	+	3	792	c.537C>T	c.(535-537)acC>acT	p.T179T	SLC6A2_ENST00000414754.3_Silent_p.T179T|SLC6A2_ENST00000567238.1_Silent_p.T74T|SLC6A2_ENST00000566163.1_Silent_p.T179T|SLC6A2_ENST00000561820.1_Silent_p.T179T|SLC6A2_ENST00000219833.8_Silent_p.T179T|SLC6A2_ENST00000568943.1_Silent_p.T179T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	179					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTGGCCACACCTGGAACAGCC	0.567																																																0													164	114	131					16																	55705980		2198	4300	6498	SO:0001819	synonymous_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.537C>T	chr16.hg19:g.55705980C>T			B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	hg19	CCDS10754.1																																																																																				0.567	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			T	55705980	C	T	55705980	2	4	453	1	0	0	0	0	0	0	0	1	14689	668	24	2		2	SLC6A2	16	55705980	Silent	SNP	C	TCGA-BQ-5877-01A-11D-1589-08	739168	55705980	34648773	59	24774											
MYH4	4622	hgsc.bcm.edu	37	17	10366488	10366488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:10366488G>A	ENST00000255381.2	-	10	933	c.823C>T	c.(823-825)Cga>Tga	p.R275*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	275	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAAGTAACTCGGGACTTCTCT	0.353																																																0													76	78	77					17																	10366488		2203	4300	6503	SO:0001587	stop_gained	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.823C>T	chr17.hg19:g.10366488G>A	ENSP00000255381:p.Arg275*			Nonsense_Mutation	SNP	ENST00000255381.2	hg19	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353656	0.95830	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.37	-0.0246	0.13938	.	0.000000	0.35320	U	0.003296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5683	0.76313	0.0:0.0:0.2102:0.7898	.	.	.	.	X	275	.	ENSP00000255381:R275X	R	-	1	2	MYH4	10307213	0.139000	0.22563	0.530000	0.27963	0.997000	0.91878	0.358000	0.20216	0.248000	0.21435	0.650000	0.86243	CGA		0.353	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10366488	G	A	10366488	4	1	453	1	0	0	0	0	0	1	0	0	10039	1124	39	1	5120	1	MYH4	17	10366488	Nonsense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08		10366488	70828722	60	24775											
PLD6	201164	hgsc.bcm.edu	37	17	17106274	17106274	+	Missense_Mutation	SNP	G	G	A	rs139543758		TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:17106274G>A	ENST00000321560.3	-	2	594	c.566C>T	c.(565-567)aCg>aTg	p.T189M	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	189					DNA methylation involved in gamete generation (GO:0043046)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|meiotic nuclear division (GO:0007126)|mitochondrial fusion (GO:0008053)|P granule organization (GO:0030719)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|piRNA metabolic process (GO:0034587)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	cardiolipin hydrolase activity (GO:0035755)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)	2						GTCGTCCTCCGTGATGAGAAC	0.488																																																0													158	143	148					17																	17106274		2203	4300	6503	SO:0001583	missense	201164			AK090899	CCDS11182.1	17p11.2	2008-08-14			ENSG00000179598	ENSG00000179598			30447	protein-coding gene	gene with protein product		614960				12477932	Standard	NM_178836		Approved		uc002gqz.3	Q8N2A8	OTTHUMG00000059278	ENST00000321560.3:c.566C>T	chr17.hg19:g.17106274G>A	ENSP00000317177:p.Thr189Met		Q8N5Y1	Missense_Mutation	SNP	ENST00000321560.3	hg19	CCDS11182.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.302941	0.23736	.	.	ENSG00000179598	ENST00000321560	T	0.24350	1.86	5.6	5.6	0.85130	.	0.181068	0.49916	N	0.000129	T	0.27629	0.0679	M	0.74258	2.255	0.24632	N	0.993617	B	0.29136	0.234	B	0.28784	0.094	T	0.27434	-1.0074	10	0.26408	T	0.33	-6.0E-4	8.0312	0.30465	0.782:0.0:0.218:0.0	.	189	Q8N2A8	PLD6_HUMAN	M	189	ENSP00000317177:T189M	ENSP00000317177:T189M	T	-	2	0	PLD6	17046999	0.974000	0.33945	0.967000	0.41034	0.665000	0.39181	2.538000	0.45710	0.963000	0.38082	-0.254000	0.11334	ACG		0.488	PLD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131600.2	NM_178836		A	17106274	G	A	17106274	3	1	453	1	0	0	0	0	1	0	0	0	12052	1145	40	1	196	1	PLD6	17	17106274	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	6739786	17106274	64088936	61	24776											
MYO15A	51168	hgsc.bcm.edu	37	17	18039921	18039921	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:18039921T>G	ENST00000205890.5	+	15	5038	c.4700T>G	c.(4699-4701)cTc>cGc	p.L1567R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1567	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TTCAGCTGGCTCATCACCAGG	0.622																																																0													68	73	71					17																	18039921		2194	4278	6472	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4700T>G	chr17.hg19:g.18039921T>G	ENSP00000205890:p.Leu1567Arg		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536870	0.65085	.	.	ENSG00000091536	ENST00000205890	D	0.89939	-2.59	5.7	5.7	0.88788	Myosin head, motor domain (2);	.	.	.	.	D	0.96599	0.8890	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98055	1.0390	9	0.87932	D	0	.	15.97	0.80008	0.0:0.0:0.0:1.0	.	1567	Q9UKN7	MYO15_HUMAN	R	1567	ENSP00000205890:L1567R	ENSP00000205890:L1567R	L	+	2	0	MYO15A	17980646	1.000000	0.71417	0.982000	0.44146	0.669000	0.39330	7.902000	0.87389	2.189000	0.69895	0.459000	0.35465	CTC		0.622	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		G	18039921	T	G	18039921	3	3	453	1	0	0	0	0	1	0	0	0	10065	1551	54	5	4750	5	MYO15A	17	18039921	Missense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08	933647	18039921	63155289	62	24777											
NSF	4905	hgsc.bcm.edu	37	17	44806264	44806264	+	Silent	SNP	G	G	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:44806264G>A	ENST00000398238.4	+	17	1979	c.1872G>A	c.(1870-1872)caG>caA	p.Q624Q	NSF_ENST00000225282.8_Silent_p.Q530Q|NSF_ENST00000575068.1_Silent_p.Q619Q	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	624					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTGTATTACAGGCTCTTCTCG	0.323																																					Ovarian(25;472 742 1472 36813 50223)											0													141	120	126					17																	44806264		1805	4065	5870	SO:0001819	synonymous_variant	4905				CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"ATPases / AAA-type"	8016	protein-coding gene	gene with protein product	"N-ethylmaleimide-sensitive factor-like protein"	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1872G>A	chr17.hg19:g.44806264G>A			A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Silent	SNP	ENST00000398238.4	hg19	CCDS42354.1																																																																																				0.323	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		A	44806264	G	A	44806264	2	1	453	1	0	0	0	0	0	0	0	1	10673	991	35	2		2	NSF	17	44806264	Silent	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	26766343	44806264	36388946	63	24778											
USP32	84669	hgsc.bcm.edu	37	17	58348812	58348812	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:58348812T>G	ENST00000300896.4	-	6	796	c.602A>C	c.(601-603)aAa>aCa	p.K201T	USP32_ENST00000393003.3_Missense_Mutation_p.K201T	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	201					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCAATAGCGTTTCTCAAGATC	0.398																																																0													137	119	125					17																	58348812		2203	4300	6503	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.602A>C	chr17.hg19:g.58348812T>G	ENSP00000300896:p.Lys201Thr		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	hg19	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.820035	0.90873	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.68765	-0.35;-0.35	5.35	5.35	0.76521	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.85130	0.968;0.997	T	0.82137	-0.0606	10	0.87932	D	0	.	15.332	0.74219	0.0:0.0:0.0:1.0	.	201;201	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	T	201	ENSP00000300896:K201T;ENSP00000376727:K201T	ENSP00000300896:K201T	K	-	2	0	USP32	55703594	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.983000	0.88140	2.014000	0.59158	0.460000	0.39030	AAA		0.398	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		G	58348812	T	G	58348812	3	3	453	1	0	0	0	0	1	0	0	0	17068	1841	64	5	4328	5	USP32	17	58348812	Missense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08	13542548	58348812	22846398	64	24779											
SPHK1	8877	hgsc.bcm.edu	37	17	74383269	74383269	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:74383269C>G	ENST00000545180.1	+	8	1566	c.757C>G	c.(757-759)Ccc>Gcc	p.P253A	SPHK1_ENST00000590959.1_Missense_Mutation_p.P267A|SPHK1_ENST00000323374.4_Missense_Mutation_p.P339A|SPHK1_ENST00000392496.3_Missense_Mutation_p.P253A|SPHK1_ENST00000592299.1_Missense_Mutation_p.P253A			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	253					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	GACAGTGGTGCCCGACGAGGA	0.627																																					GBM(90;966 1307 27369 33775 44498)											0													57	43	48					17																	74383269		2203	4300	6503	SO:0001583	missense	8877			BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.757C>G	chr17.hg19:g.74383269C>G	ENSP00000440970:p.Pro253Ala		Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Missense_Mutation	SNP	ENST00000545180.1	hg19	CCDS45785.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373733	0.61624	.	.	ENSG00000176170	ENST00000545180;ENST00000323374;ENST00000392496;ENST00000543830	T;T;T	0.13778	2.56;2.56;2.56	5.08	5.08	0.68730	.	0.252689	0.40144	N	0.001161	T	0.17746	0.0426	M	0.70595	2.14	0.37430	D	0.914003	B;P;P	0.51351	0.175;0.756;0.944	B;B;P	0.45343	0.088;0.374;0.477	T	0.10497	-1.0627	10	0.06236	T	0.91	-5.9695	13.4531	0.61182	0.1567:0.8433:0.0:0.0	.	339;267;253	Q9NYA1-2;Q96GK1;Q9NYA1	.;.;SPHK1_HUMAN	A	253;339;253;252	ENSP00000440970:P253A;ENSP00000313681:P339A;ENSP00000376285:P253A	ENSP00000313681:P339A	P	+	1	0	SPHK1	71894864	0.949000	0.32298	0.993000	0.49108	0.818000	0.46254	2.111000	0.41883	2.346000	0.79739	0.563000	0.77884	CCC		0.627	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		G	74383269	C	G	74383269	3	3	453	1	0	0	0	0	1	0	0	0	15051	739	26	4	1079	4	SPHK1	17	74383269	Missense_Mutation	SNP	C	TCGA-BQ-5877-01A-11D-1589-08	16034457	74383269	6811941	65	24780											
DCC	1630	hgsc.bcm.edu	37	18	51025752	51025752	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr18:51025752G>T	ENST00000442544.2	+	27	4599	c.3983G>T	c.(3982-3984)aGc>aTc	p.S1328I	DCC_ENST00000581580.1_Missense_Mutation_p.S961I|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1328					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGGCACCAAGCAGAACCATC	0.537																																																0													232	178	196					18																	51025752		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3983G>T	chr18.hg19:g.51025752G>T	ENSP00000389140:p.Ser1328Ile			Missense_Mutation	SNP	ENST00000442544.2	hg19	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454949	0.43634	.	.	ENSG00000187323	ENST00000442544	T	0.46819	0.86	6.17	6.17	0.99709	Neogenin, C-terminal (1);	0.168925	0.51477	D	0.000094	T	0.53802	0.1819	L	0.47716	1.5	0.54753	D	0.999981	P	0.49696	0.927	P	0.48952	0.596	T	0.46133	-0.9213	10	0.44086	T	0.13	-9.5941	19.6509	0.95805	0.0:0.0:1.0:0.0	.	1328	P43146	DCC_HUMAN	I	1328	ENSP00000389140:S1328I	ENSP00000389140:S1328I	S	+	2	0	DCC	49279750	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.871000	0.87180	2.941000	0.99782	0.655000	0.94253	AGC		0.537	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		T	51025752	G	T	51025752	3	4	453	1	0	0	0	0	1	0	0	0	4284	971	34	4	4089	4	DCC	18	51025752	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08		51025752	27051496	66	24781											
BTBD2	55643	hgsc.bcm.edu	37	19	1986877	1986877	+	Silent	SNP	C	C	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:1986877C>G	ENST00000255608.4	-	8	1384	c.1368G>C	c.(1366-1368)ccG>ccC	p.P456P	AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	456						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTCCACCGGCTCCTTGA	0.632																																																0													52	54	53					19																	1986877		2203	4300	6503	SO:0001819	synonymous_variant	55643			AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1368G>C	chr19.hg19:g.1986877C>G			O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	hg19	CCDS12078.1																																																																																				0.632	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			G	1986877	C	G	1986877	2	3	453	1	0	0	0	0	0	0	0	1	1545	639	23	4		4	BTBD2	19	1986877	Silent	SNP	C	TCGA-BQ-5877-01A-11D-1589-08		1986877	57142106	67	24782											
SLC44A2	57153	hgsc.bcm.edu	37	19	10745556	10745556	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:10745556G>C	ENST00000335757.5	+	11	1324	c.948G>C	c.(946-948)ttG>ttC	p.L316F	SLC44A2_ENST00000407327.4_Missense_Mutation_p.L314F|SLC44A2_ENST00000586078.1_Missense_Mutation_p.L316F			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	316					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	AGACCTGGTTGGCCTTTAGTG	0.597																																																0													151	140	144					19																	10745556		2203	4300	6503	SO:0001583	missense	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.948G>C	chr19.hg19:g.10745556G>C	ENSP00000336888:p.Leu316Phe		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	hg19	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177297	0.38413	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.14266	2.52;2.53	5.46	3.27	0.37495	.	0.532611	0.23295	N	0.049756	T	0.17534	0.0421	L	0.58101	1.795	0.45161	D	0.998171	B;B;B	0.20887	0.049;0.013;0.014	B;B;B	0.35727	0.209;0.04;0.16	T	0.03175	-1.1064	10	0.30854	T	0.27	-23.7844	9.2861	0.37758	0.0773:0.0:0.7775:0.1453	.	316;316;314	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	F	314;316;316	ENSP00000385135:L314F;ENSP00000336888:L316F	ENSP00000336888:L316F	L	+	3	2	SLC44A2	10606556	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.740000	0.62087	0.641000	0.30601	0.557000	0.71058	TTG		0.597	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			C	10745556	G	C	10745556	3	2	453	1	0	0	0	0	1	0	0	0	14642	1339	47	4	1025	4	SLC44A2	19	10745556	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	8758679	10745556	48383427	68	24783											
ZNF823	55552	hgsc.bcm.edu	37	19	11833231	11833231	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:11833231G>C	ENST00000341191.6	-	4	1271	c.1118C>G	c.(1117-1119)tCg>tGg	p.S373W	ZNF823_ENST00000545749.1_Missense_Mutation_p.S191W	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TCGAAAGCTCGAGCTATGAGA	0.423										HNSCC(68;0.2)																																						0													109	114	112					19																	11833231		2203	4300	6503	SO:0001583	missense	55552			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1118C>G	chr19.hg19:g.11833231G>C	ENSP00000340683:p.Ser373Trp		A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	hg19	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	N	11.84	1.757736	0.31137	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.08282	3.11;3.11;3.11	0.632	0.632	0.17705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30293	0.0760	M	0.90425	3.115	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03384	-1.1042	9	0.87932	D	0	.	7.1241	0.25461	1.0E-4:0.0:0.9999:0.0	.	373	P16415	ZN823_HUMAN	W	191;373;329	ENSP00000440162:S191W;ENSP00000340683:S373W;ENSP00000410654:S329W	ENSP00000340683:S373W	S	-	2	0	ZNF823	11694231	0.000000	0.05858	0.001000	0.08648	0.423000	0.31445	-0.236000	0.09003	0.618000	0.30179	0.298000	0.19748	TCG		0.423	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		C	11833231	G	C	11833231	3	2	453	1	0	0	0	0	1	0	0	0	18184	1059	37	4	718	4	ZNF823	19	11833231	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	1087675	11833231	47295752	69	24784											
GRAMD1A	57655	hgsc.bcm.edu	37	19	35500801	35500802	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:35500801_35500802insCA	ENST00000317991.5	+	4	442_443	c.250_251insCA	c.(250-252)cccfs	p.P84fs	GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Frame_Shift_Ins_p.P84fs|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000599564.1_Frame_Shift_Ins_p.P171fs|GRAMD1A_ENST00000411896.2_Frame_Shift_Ins_p.P77fs	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	84						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GATGCTGAGCCCCACTTATAAG	0.559																																																0																																										SO:0001589	frameshift_variant	57655			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		Exception_encountered	chr19.hg19:g.35500801_35500802insCA	ENSP00000441032:p.Pro84fs		A6NKY7|Q8NC77|Q9P1Z5	Frame_Shift_Ins	INS	ENST00000317991.5	hg19	CCDS42546.1																																																																																				0.559	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		CA	35500802	-	CA	35500801	7	5	453	1	0	1	1	0	0	0	0	0	6749	623	22	0	264	0	GRAMD1A	19	35500801	Frame_Shift_Ins	INS	-	TCGA-BQ-5877-01A-11D-1589-08	23667570	35500801	23628182	70	24785											
ZFP82	284406	hgsc.bcm.edu	37	19	36883897	36883897	+	Missense_Mutation	SNP	G	G	T	rs143115887		TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:36883897G>T	ENST00000392161.3	-	5	1587	c.1345C>A	c.(1345-1347)Cct>Act	p.P449T	ZFP82_ENST00000392171.1_Missense_Mutation_p.P449T	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P449S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTTATAAGGTTTCTCACCA	0.413																																																1	Substitution - Missense(1)	skin(1)											92	90	91					19																	36883897		2203	4300	6503	SO:0001583	missense	284406			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1345C>A	chr19.hg19:g.36883897G>T	ENSP00000431265:p.Pro449Thr		Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	hg19	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536339	0.65085	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.16897	2.31;2.31	4.2	4.2	0.49525	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000902	T	0.42698	0.1214	M	0.79343	2.45	0.49915	D	0.999832	D	0.89917	1.0	D	0.97110	1.0	T	0.44003	-0.9356	10	0.72032	D	0.01	.	14.447	0.67359	0.0:0.0:1.0:0.0	.	449	Q8N141	ZFP82_HUMAN	T	449	ENSP00000431265:P449T;ENSP00000446080:P449T	ENSP00000431265:P449T	P	-	1	0	ZFP82	41575737	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.542000	0.82095	2.352000	0.79861	0.591000	0.81541	CCT		0.413	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		T	36883897	G	T	36883897	3	4	453	1	0	0	0	0	1	0	0	0	17658	1261	44	4	257	4	ZFP82	19	36883897	Missense_Mutation	SNP	G	TCGA-BQ-5877-01A-11D-1589-08	1383096	36883897	22245086	71	24786											
CPT1C	126129	hgsc.bcm.edu	37	19	50200612	50200612	+	Silent	SNP	C	C	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:50200612C>A	ENST00000392518.4	+	4	543	c.171C>A	c.(169-171)gcC>gcA	p.A57A	CPT1C_ENST00000354199.5_Silent_p.A57A|CPT1C_ENST00000405931.2_Silent_p.A57A|CPT1C_ENST00000323446.5_Silent_p.A57A|CPT1C_ENST00000598293.1_Silent_p.A57A	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	57					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGTTTCCTGCCAGCCCCCTCA	0.542																																																0													194	139	158					19																	50200612		2203	4300	6503	SO:0001819	synonymous_variant	126129			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.171C>A	chr19.hg19:g.50200612C>A			A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	hg19	CCDS12779.1																																																																																				0.542	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		A	50200612	C	A	50200612	2	1	453	1	0	0	0	0	0	0	0	1	3835	581	21	4		4	CPT1C	19	50200612	Silent	SNP	C	TCGA-BQ-5877-01A-11D-1589-08	13316715	50200612	8928371	72	24787											
ZNF613	79898	hgsc.bcm.edu	37	19	52447643	52447643	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:52447643T>A	ENST00000293471.6	+	6	1186	c.507T>A	c.(505-507)caT>caA	p.H169Q	ZNF613_ENST00000391794.4_Missense_Mutation_p.H133Q	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ATGCCAAGCATGAACAATTTC	0.348																																																0													94	102	99					19																	52447643		2203	4300	6503	SO:0001583	missense	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.507T>A	chr19.hg19:g.52447643T>A	ENSP00000293471:p.His169Gln		Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	hg19	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.386951	0.25031	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.28454	1.61;1.61	2.9	1.88	0.25563	.	0.429945	0.17365	N	0.176876	T	0.18882	0.0453	N	0.24115	0.695	0.25401	N	0.988446	P	0.51791	0.948	B	0.42555	0.391	T	0.08973	-1.0696	10	0.62326	D	0.03	.	6.0884	0.19980	0.0:0.1332:0.0:0.8668	.	169	Q6PF04	ZN613_HUMAN	Q	169;133	ENSP00000293471:H169Q;ENSP00000375671:H133Q	ENSP00000293471:H169Q	H	+	3	2	ZNF613	57139455	0.003000	0.15002	0.186000	0.23195	0.107000	0.19398	0.002000	0.13061	0.531000	0.28639	0.528000	0.53228	CAT		0.348	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		A	52447643	T	A	52447643	3	1	453	1	0	0	0	0	1	0	0	0	18043	1461	51	5	521	5	ZNF613	19	52447643	Missense_Mutation	SNP	T	TCGA-BQ-5877-01A-11D-1589-08	2247031	52447643	6681340	73	24788											
CPXM1	56265	hgsc.bcm.edu	37	20	2775062	2775063	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr20:2775062_2775063insA	ENST00000380605.2	-	14	2042_2043	c.1978_1979insT	c.(1978-1980)tatfs	p.Y660fs		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	660					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGACGCCAATAATCCCCGCCC	0.599																																																0																																										SO:0001589	frameshift_variant	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1979dupT	chr20.hg19:g.2775064_2775064dupA	ENSP00000369979:p.Tyr660fs		Q6P4G8|Q6UW65|Q9NUB5	Frame_Shift_Ins	INS	ENST00000380605.2	hg19	CCDS13033.1																																																																																				0.599	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		A	2775063	-	A	2775062	7	5	453	1	0	1	1	0	0	0	0	0	3839	1406	49	0	229	0	CPXM1	20	2775062	Frame_Shift_Ins	INS	-	TCGA-BQ-5877-01A-11D-1589-08		2775062	60250458	74	24789											
ZNF341	84905	hgsc.bcm.edu	37	20	32357951	32357951	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr20:32357951A>C	ENST00000375200.1	+	10	1840	c.1475A>C	c.(1474-1476)gAg>gCg	p.E492A	ZNF341_ENST00000342427.2_Missense_Mutation_p.E485A	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ACATTTCTGGAGCACATCAAG	0.597																																																0													69	58	61					20																	32357951		2203	4300	6503	SO:0001583	missense	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1475A>C	chr20.hg19:g.32357951A>C	ENSP00000364346:p.Glu492Ala		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	hg19		.	.	.	.	.	.	.	.	.	.	A	25.6	4.651504	0.88056	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.31247	1.5;1.5	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.051359	0.85682	D	0.000000	T	0.30696	0.0773	N	0.17872	0.535	0.53005	D	0.999962	P;P;P	0.50819	0.792;0.939;0.925	B;P;P	0.53809	0.257;0.735;0.616	T	0.03608	-1.1020	10	0.13470	T	0.59	-36.6794	15.6282	0.76878	1.0:0.0:0.0:0.0	.	433;492;485	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	A	485;492	ENSP00000344308:E485A;ENSP00000364346:E492A	ENSP00000344308:E485A	E	+	2	0	ZNF341	31821612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.898000	0.92538	2.152000	0.67230	0.443000	0.29094	GAG		0.597	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				C	32357951	A	C	32357951	3	2	453	1	0	0	0	0	1	0	0	0	17862	304	11	5	1492	5	ZNF341	20	32357951	Missense_Mutation	SNP	A	TCGA-BQ-5877-01A-11D-1589-08	29582889	32357951	30667569	75	24790											
CECR6	27439	hgsc.bcm.edu	37	22	17600589	17600589	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr22:17600589C>G	ENST00000331437.3	-	1	1554	c.1429G>C	c.(1429-1431)Gtg>Ctg	p.V477L	CECR6_ENST00000399875.1_Missense_Mutation_p.V122L|AC006946.15_ENST00000441544.1_5'Flank	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	477										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GGCACGTCCACCAGGCAGCCG	0.697																																																0													4	4	4					22																	17600589		2023	4042	6065	SO:0001583	missense	27439			AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.1429G>C	chr22.hg19:g.17600589C>G	ENSP00000329318:p.Val477Leu		A8MYY1	Missense_Mutation	SNP	ENST00000331437.3	hg19	CCDS13740.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.137885	0.37728	.	.	ENSG00000183307	ENST00000399875;ENST00000331437	.	.	.	4.32	4.32	0.51571	.	0.000000	0.53938	U	0.000050	T	0.47820	0.1466	N	0.20986	0.625	0.40994	D	0.984875	P	0.35745	0.518	B	0.39531	0.302	T	0.56571	-0.7957	9	0.59425	D	0.04	.	14.668	0.68924	0.0:1.0:0.0:0.0	.	477	Q9BXQ6	CECR6_HUMAN	L	122;477	.	ENSP00000329318:V477L	V	-	1	0	CECR6	15980589	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	4.385000	0.59613	2.116000	0.64780	0.462000	0.41574	GTG		0.697	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		G	17600589	C	G	17600589	3	3	453	1	0	0	0	0	1	0	0	0	3210	507	18	4	311	4	CECR6	22	17600589	Missense_Mutation	SNP	C	TCGA-BQ-5877-01A-11D-1589-08		17600589	33703977	76	24791											
PPM1F	9647	hgsc.bcm.edu	37	22	22285579	22285579	+	Frame_Shift_Del	DEL	T	T	-	rs376795506		TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr22:22285579delT	ENST00000263212.5	-	6	937	c.832delA	c.(832-834)attfs	p.I278fs	PPM1F_ENST00000407142.1_Frame_Shift_Del_p.I110fs|PPM1F_ENST00000397495.4_Frame_Shift_Del_p.I278fs|PPM1F_ENST00000538191.1_Frame_Shift_Del_p.I174fs	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	278					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TGTACCAAAATGACCTGGGAA	0.637																																																0													124	98	107					22																	22285579		2203	4300	6503	SO:0001589	frameshift_variant	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.832delA	chr22.hg19:g.22285579delT	ENSP00000263212:p.Ile278fs		A8K6G3|B7Z2C3|Q96PM2	Frame_Shift_Del	DEL	ENST00000263212.5	hg19	CCDS13796.1																																																																																				0.637	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		-	22285579	T	-	22285579	7	5	453	1	0	1	0	1	0	0	0	0	12344	1464	51	0	544	0	PPM1F	22	22285579	Frame_Shift_Del	DEL	T	TCGA-BQ-5877-01A-11D-1589-08	4684990	22285579	29018987	77	24792											
CABIN1	23523	hgsc.bcm.edu	37	22	24447376	24447376	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr22:24447376C>T	ENST00000398319.2	+	8	1131	c.746C>T	c.(745-747)gCg>gTg	p.A249V	CABIN1_ENST00000263119.5_Missense_Mutation_p.A249V|CABIN1_ENST00000405822.2_Intron	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	249					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGAGGCAAGCGCTGATTGTG	0.542																																																0													117	102	107					22																	24447376		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.746C>T	chr22.hg19:g.24447376C>T	ENSP00000381364:p.Ala249Val		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	hg19	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679191	0.68042	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T	0.63096	0.33;-0.02;0.33;-0.02	5.32	5.32	0.75619	.	0.105434	0.64402	D	0.000006	T	0.73969	0.3655	L	0.56769	1.78	0.80722	D	1	D;D;D	0.71674	0.986;0.963;0.998	P;B;P	0.61132	0.457;0.373;0.884	T	0.72418	-0.4300	10	0.40728	T	0.16	.	18.4214	0.90591	0.0:1.0:0.0:0.0	.	204;249;249	C9J068;F5H5W5;Q9Y6J0	.;.;CABIN_HUMAN	V	204;249;204;249;249	ENSP00000394209:A204V;ENSP00000263119:A249V;ENSP00000412389:A204V;ENSP00000381364:A249V	ENSP00000263119:A249V	A	+	2	0	CABIN1	22777376	1.000000	0.71417	0.979000	0.43373	0.279000	0.26890	6.486000	0.73629	2.666000	0.90696	0.551000	0.68910	GCG		0.542	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		T	24447376	C	T	24447376	3	4	453	1	0	0	0	0	1	0	0	0	2530	768	27	1	772	1	CABIN1	22	24447376	Missense_Mutation	SNP	C	TCGA-BQ-5877-01A-11D-1589-08	2161797	24447376	26857190	78	24793											
NF2	4771	hgsc.bcm.edu	37	22	30050709	30050709	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr22:30050709A>T	ENST00000338641.4	+	5	952	c.511A>T	c.(511-513)Aaa>Taa	p.K171*	NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Nonsense_Mutation_p.K130*|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Nonsense_Mutation_p.K88*|NF2_ENST00000397789.3_Nonsense_Mutation_p.K171*|NF2_ENST00000403435.1_Nonsense_Mutation_p.K171*|NF2_ENST00000403999.3_Nonsense_Mutation_p.K171*|NF2_ENST00000361676.4_Nonsense_Mutation_p.K129*|NF2_ENST00000353887.4_Nonsense_Mutation_p.K88*|NF2_ENST00000361166.4_Nonsense_Mutation_p.K171*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	171	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ATTGCTTCCAAAAAGGGTAAG	0.423			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	3	Unknown(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)											113	114	114					22																	30050709		2203	4300	6503	SO:0001587	stop_gained	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.511A>T	chr22.hg19:g.30050709A>T	ENSP00000344666:p.Lys171*		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	hg19	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	A	41	8.773705	0.98948	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.99	5.99	0.97316	.	0.049049	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	.	.	.	X	171;171;130;171;171;88;88;171;129;171	.	.	K	+	1	0	NF2	28380709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.185000	0.94900	2.291000	0.77112	0.533000	0.62120	AAA		0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		T	30050709	A	T	30050709	4	4	453	1	0	0	0	0	0	1	0	0	10359	15	1	5	529	5	NF2	22	30050709	Nonsense_Mutation	SNP	A	TCGA-BQ-5877-01A-11D-1589-08	5603333	30050709	21253857	79	24794											
CHD5	26038	hgsc.bcm.edu	37	1	6204188	6204188	+	Silent	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:6204188G>A	ENST00000262450.3	-	12	1929	c.1830C>T	c.(1828-1830)taC>taT	p.Y610Y	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTTGATCAGGTAGTGCACAT	0.567																																																0													245	196	213					1																	6204188		2203	4300	6503	SO:0001819	synonymous_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1830C>T	chr1.hg19:g.6204188G>A			A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	hg19	CCDS57.1																																																																																				0.567	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6204188	G	A	6204188	2	1	454	1	0	0	0	0	0	0	0	1	3330	1256	44	2		2	CHD5	1	6204188	Silent	SNP	G	TCGA-BQ-5878-01A-11D-1589-08		6204188	243046433	1	24795											
ARID1A	8289	hgsc.bcm.edu	37	1	27057775	27057775	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:27057775C>T	ENST00000324856.7	+	3	1854	c.1483C>T	c.(1483-1485)Cat>Tat	p.H495Y	ARID1A_ENST00000374152.2_Missense_Mutation_p.H112Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.H495Y	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	495					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGACCCCTCATGCCCAACC	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													347	315	326					1																	27057775		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1483C>T	chr1.hg19:g.27057775C>T	ENSP00000320485:p.His495Tyr		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	hg19	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935864	0.34189	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	T;T;T;T	0.43688	4.5;4.28;0.94;4.29	5.33	5.33	0.75918	.	0.344170	0.34046	N	0.004318	T	0.22437	0.0541	N	0.08118	0	0.80722	D	1	B;B;B	0.29988	0.068;0.264;0.068	B;B;B	0.24701	0.014;0.055;0.014	T	0.12993	-1.0526	10	0.02654	T	1	-11.5851	19.2116	0.93757	0.0:1.0:0.0:0.0	.	495;495;149	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	Y	495;495;112;112	ENSP00000320485:H495Y;ENSP00000387636:H495Y;ENSP00000432473:H112Y;ENSP00000363267:H112Y	ENSP00000320485:H495Y	H	+	1	0	ARID1A	26930362	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.260000	0.51523	2.766000	0.95052	0.655000	0.94253	CAT		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27057775	C	T	27057775	3	4	454	1	0	0	0	0	1	0	0	0	913	826	29	2	1493	2	ARID1A	1	27057775	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	20853587	27057775	222192846	2	24796											
POMGNT1	55624	hgsc.bcm.edu	37	1	46662703	46662704	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:46662703_46662704delGA	ENST00000371984.3	-	3	330_331	c.173_174delTC	c.(172-174)atcfs	p.I58fs	POMGNT1_ENST00000371986.3_Frame_Shift_Del_p.I58fs|POMGNT1_ENST00000535522.1_Frame_Shift_Del_p.I36fs|POMGNT1_ENST00000396420.3_Frame_Shift_Del_p.I58fs|POMGNT1_ENST00000371992.1_Frame_Shift_Del_p.I58fs	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	58					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GAGTGTCCAGGATCAACTTGAT	0.55																																																0																																										SO:0001589	frameshift_variant	55624				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.173_174delTC	chr1.hg19:g.46662703_46662704delGA	ENSP00000361052:p.Ile58fs		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Frame_Shift_Del	DEL	ENST00000371984.3	hg19	CCDS531.1																																																																																				0.55	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		-	46662704	GA	-	46662703	7	5	454	1	0	1	0	1	0	0	0	0	12245	1164	41	0	1888	0	POMGNT1	1	46662703	Frame_Shift_Del	DEL	GA	TCGA-BQ-5878-01A-11D-1589-08	19604928	46662703	202587918	3	24797											
C1orf177	163747	hgsc.bcm.edu	37	1	55272686	55272686	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:55272686T>C	ENST00000371273.3	+	2	137	c.122T>C	c.(121-123)gTt>gCt	p.V41A	C1orf177_ENST00000358193.3_Missense_Mutation_p.V41A	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	41										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATCTCTGCTGTTTATCCCAAC	0.582																																																0													230	214	219					1																	55272686		2203	4300	6503	SO:0001583	missense	163747			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.122T>C	chr1.hg19:g.55272686T>C	ENSP00000360320:p.Val41Ala		B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	hg19	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.241605	0.39598	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.26518	1.73;1.73	3.72	3.72	0.42706	.	0.129282	0.31821	N	0.007008	T	0.36138	0.0956	L	0.59436	1.845	0.36448	D	0.865922	D;D	0.56035	0.974;0.974	P;P	0.54499	0.754;0.754	T	0.43589	-0.9382	10	0.48119	T	0.1	-2.4596	10.7545	0.46228	0.0:0.0:0.0:1.0	.	41;41	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	A	41	ENSP00000350924:V41A;ENSP00000360320:V41A	ENSP00000350924:V41A	V	+	2	0	C1orf177	55045274	0.977000	0.34250	0.832000	0.32986	0.687000	0.40016	2.492000	0.45311	1.929000	0.55896	0.379000	0.24179	GTT		0.582	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		C	55272686	T	C	55272686	3	2	454	1	0	0	0	0	1	0	0	0	2019	1725	60	3	128	3	C1orf177	1	55272686	Missense_Mutation	SNP	T	TCGA-BQ-5878-01A-11D-1589-08	8609983	55272686	193977935	4	24798											
L1TD1	54596	hgsc.bcm.edu	37	1	62672679	62672679	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:62672679G>C	ENST00000498273.1	+	3	674	c.379G>C	c.(379-381)Ggt>Cgt	p.G127R		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	127										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ctctaaaataggtgatgataa	0.308																																																0													59	70	66					1																	62672679		2194	4294	6488	SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.379G>C	chr1.hg19:g.62672679G>C	ENSP00000419901:p.Gly127Arg		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	hg19	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	6.882	0.532168	0.13127	.	.	ENSG00000240563	ENST00000498273	T	0.11277	2.79	2.07	1.1	0.20463	.	.	.	.	.	T	0.06142	0.0159	N	0.14661	0.345	0.09310	N	1	B	0.27594	0.182	B	0.25291	0.059	T	0.36504	-0.9745	9	0.54805	T	0.06	.	6.423	0.21754	0.0:0.3091:0.6909:0.0	.	127	Q5T7N2	LITD1_HUMAN	R	127	ENSP00000419901:G127R	ENSP00000419901:G127R	G	+	1	0	L1TD1	62445267	0.034000	0.19679	0.001000	0.08648	0.024000	0.10985	1.838000	0.39211	0.419000	0.25927	0.313000	0.20887	GGT		0.308	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		C	62672679	G	C	62672679	3	2	454	1	0	0	0	0	1	0	0	0	8591	1000	35	4	381	4	L1TD1	1	62672679	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	7399993	62672679	186577942	5	24799											
VANGL1	81839	hgsc.bcm.edu	37	1	116202267	116202267	+	Missense_Mutation	SNP	G	G	C	rs143990097		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:116202267G>C	ENST00000355485.2	+	3	348	c.77G>C	c.(76-78)aGa>aCa	p.R26T	VANGL1_ENST00000369510.4_Missense_Mutation_p.R26T|VANGL1_ENST00000310260.3_Missense_Mutation_p.R26T|VANGL1_ENST00000369509.1_Missense_Mutation_p.R26T	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	26					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCAGGGAAAGAACTAGAGAG	0.413																																																0													127	138	134					1																	116202267		2203	4300	6503	SO:0001583	missense	81839			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.77G>C	chr1.hg19:g.116202267G>C	ENSP00000347672:p.Arg26Thr		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	hg19	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572304	0.86542	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.88381	0.6421	M	0.70595	2.14	0.58432	D	0.999999	P;P	0.48998	0.9;0.918	P;P	0.50378	0.506;0.639	D	0.89451	0.3730	10	0.62326	D	0.03	-9.9475	17.453	0.87597	0.0:0.0:1.0:0.0	.	26;26	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	T	26	ENSP00000347672:R26T;ENSP00000358523:R26T;ENSP00000310800:R26T;ENSP00000358522:R26T	ENSP00000310800:R26T	R	+	2	0	VANGL1	116003790	1.000000	0.71417	0.995000	0.50966	0.934000	0.57294	7.940000	0.87693	2.561000	0.86390	0.563000	0.77884	AGA		0.413	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			C	116202267	G	C	116202267	3	2	454	1	0	0	0	0	1	0	0	0	17124	942	33	4	83	4	VANGL1	1	116202267	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	53529588	116202267	133048354	6	24800											
NTRK1	4914	hgsc.bcm.edu	37	1	156849153	156849153	+	Splice_Site	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:156849153G>A	ENST00000524377.1	+	15	2086	c.2045G>A	c.(2044-2046)cGt>cAt	p.R682H	NTRK1_ENST00000358660.3_Splice_Site_p.R679H|NTRK1_ENST00000368196.3_Splice_Site_p.R676H|NTRK1_ENST00000392302.2_Splice_Site_p.R646H	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GACTATTACCGTGTAAGGGTC	0.562			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0													84	75	78					1																	156849153		2203	4300	6503	SO:0001630	splice_region_variant	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2046+1G>A	chr1.hg19:g.156849153G>A			B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	hg19	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953656	0.73902	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.13	4.13	0.48395	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Tyrosine-protein kinase, receptor class II, conserved site (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000390	D	0.86764	0.6011	L	0.56280	1.765	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.987;0.938;0.99	D	0.88394	0.3010	10	0.87932	D	0	.	15.4596	0.75342	0.0:0.0:1.0:0.0	.	679;676;682;646	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	H	646;676;682;679	ENSP00000376120:R646H;ENSP00000357179:R676H;ENSP00000431418:R682H;ENSP00000351486:R679H	ENSP00000351486:R679H	R	+	2	0	NTRK1	155115777	1.000000	0.71417	0.930000	0.37139	0.719000	0.41307	7.703000	0.84585	2.315000	0.78130	0.561000	0.74099	CGT		0.562	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	Missense_Mutation	A	156849153	G	A	156849153	5	1	454	1	0	0	0	0	0	0	1	0	10708	1159	40	1	2233	1	NTRK1	1	156849153	Splice_Site	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	40646886	156849153	92401468	7	24801											
GLRX2	51022	hgsc.bcm.edu	37	1	193074704	193074704	+	5'Flank	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:193074704G>A	ENST00000367439.3	-	0	0				GLRX2_ENST00000367440.3_Missense_Mutation_p.A22V|GLRX2_ENST00000472197.1_Intron	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	TCCAGCGAGTGCCACCCACGT	0.652																																																0													41	44	43					1																	193074704		2203	4300	6503	SO:0001631	upstream_gene_variant	51022			AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677		chr1.hg19:g.193074704G>A	Exception_encountered		Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Missense_Mutation	SNP	ENST00000367439.3	hg19	CCDS1381.1	.	.	.	.	.	.	.	.	.	.	G	9.608	1.130447	0.21041	.	.	ENSG00000023572	ENST00000367440	T	0.35236	1.32	2.13	-4.26	0.03755	.	595.624000	0.00166	N	0.000000	T	0.23171	0.0560	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.11421	-1.0588	9	0.33940	T	0.23	2.0784	2.9471	0.05849	0.1273:0.3676:0.3584:0.1468	.	22	Q9NS18-2	.	V	22	ENSP00000356410:A22V	ENSP00000356410:A22V	A	-	2	0	GLRX2	191341327	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.156000	0.03160	-3.466000	0.00158	-0.687000	0.03738	GCA		0.652	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086699.1	NM_016066		A	193074704	G	A	193074704	1	1	454	0	1	0	0	0	0	0	0	0	6462	1319	46	2		2	GLRX2	1	193074704	5'Flank	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	36225551	193074704	56175917	8	24802											
NEK7	140609	hgsc.bcm.edu	37	1	198266319	198266319	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:198266319G>C	ENST00000367385.4	+	9	1089	c.747G>C	c.(745-747)aaG>aaC	p.K249N	NEK7_ENST00000538004.1_Missense_Mutation_p.K249N	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TGTGTAAGAAGATAGAACAGT	0.378																																																0													150	150	150					1																	198266319		2203	4300	6503	SO:0001583	missense	140609			AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"NIMA (never in mitosis gene a)-related kinase 7"			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.747G>C	chr1.hg19:g.198266319G>C	ENSP00000356355:p.Lys249Asn		A6NGT8	Missense_Mutation	SNP	ENST00000367385.4	hg19	CCDS1394.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279186	0.80692	.	.	ENSG00000151414	ENST00000367385;ENST00000538004	T;T	0.66460	-0.21;-0.21	5.98	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	L	0.42744	1.35	0.80722	D	1	P	0.39737	0.685	P	0.50049	0.629	T	0.70777	-0.4780	10	0.59425	D	0.04	.	14.6335	0.68673	0.0693:0.0:0.9307:0.0	.	249	Q8TDX7	NEK7_HUMAN	N	249	ENSP00000356355:K249N;ENSP00000444621:K249N	ENSP00000356355:K249N	K	+	3	2	NEK7	196532942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.580000	0.60942	2.838000	0.97847	0.655000	0.94253	AAG		0.378	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494		C	198266319	G	C	198266319	3	2	454	1	0	0	0	0	1	0	0	0	10331	933	33	4	777	4	NEK7	1	198266319	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	5191615	198266319	50984302	9	24803											
GDF7	151449	hgsc.bcm.edu	37	2	20871056	20871056	+	Silent	SNP	C	C	T	rs376857749		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:20871056C>T	ENST00000272224.3	+	2	1800	c.1224C>T	c.(1222-1224)gaC>gaT	p.D408D		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	408					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCACCAGACGCGGCGCCGG	0.612																																																0													69	60	63					2																	20871056		2203	4300	6503	SO:0001819	synonymous_variant	151449			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1224C>T	chr2.hg19:g.20871056C>T				Silent	SNP	ENST00000272224.3	hg19	CCDS1701.1																																																																																				0.612	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		T	20871056	C	T	20871056	2	4	454	1	0	0	0	0	0	0	0	1	6320	535	19	1		1	GDF7	2	20871056	Silent	SNP	C	TCGA-BQ-5878-01A-11D-1589-08		20871056	222328317	10	24804											
AUP1	27429	hgsc.bcm.edu	37	2	74756587	74756587	+	5'UTR	SNP	G	G	C	rs376231592		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:74756587G>C	ENST00000258080.3	+	0	84				AUP1_ENST00000377526.3_Silent_p.L30L|HTRA2_ENST00000352222.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2						adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CTGGCGCGTAGAGCAGCAGCA	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		17159	0.0		0.001	False		,,,				2504	0.0															0								G	,,	0,4280		0,0,2140	25	38	33		,,90	4.7	1	2		33	1,8483		0,1,4241	no	utr-5,utr-5,coding-synonymous	AUP1,HTRA2	NM_013247.4,NM_145074.2,NM_181575.3	,,	0,1,6381	CC,CG,GG		0.0118,0.0,0.0078	,,	,,30/411	74756587	1,12763	2140	4242	6382	SO:0001623	5_prime_UTR_variant	550				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.-547G>C	chr2.hg19:g.74756587G>C			Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	hg19	CCDS1951.1																																																																																				0.667	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		C	74756587	G	C	74756587	1	2	454	0	1	0	0	0	0	0	0	0	1220	929	33	4		4	AUP1	2	74756587	5'UTR	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	53885531	74756587	168442786	11	24805											
TTN	7273	hgsc.bcm.edu	37	2	179401833	179401833	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:179401833C>T	ENST00000591111.1	-	306	95304	c.95080G>A	c.(95080-95082)Gag>Aag	p.E31694K	TTN_ENST00000359218.5_Missense_Mutation_p.E24395K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24270K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E33335K|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24462K|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30767K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31694	Fibronectin type-III 130. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCCCCCTCCTTGGCCTCA	0.502																																																0													67	66	66					2																	179401833		1941	4126	6067	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95080G>A	chr2.hg19:g.179401833C>T	ENSP00000465570:p.Glu31694Lys		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	C	22.5	4.293637	0.80914	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.41	5.41	0.78517	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56731	0.2005	N	0.05554	-0.025	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.67806	-0.5575	9	0.87932	D	0	.	19.1973	0.93695	0.0:1.0:0.0:0.0	.	24270;24395;24462;31694	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	30767;24270;24462;24395;24267	ENSP00000343764:E30767K;ENSP00000434586:E24270K;ENSP00000340554:E24462K;ENSP00000352154:E24395K	ENSP00000340554:E24462K	E	-	1	0	TTN	179110079	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.544000	0.85801	0.462000	0.41574	GAG		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179401833	C	T	179401833	3	4	454	1	0	0	0	0	1	0	0	0	16740	864	30	2	8004	2	TTN	2	179401833	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	104645246	179401833	63797540	12	24806											
TTN	7273	hgsc.bcm.edu	37	2	179452053	179452053	+	Silent	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:179452053C>T	ENST00000591111.1	-	257	59186	c.58962G>A	c.(58960-58962)ggG>ggA	p.G19654G	TTN_ENST00000359218.5_Silent_p.G12355G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.G12230G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.G21295G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.G12422G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.G18727G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19654	Fibronectin type-III 42. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTTGGCTCCCACCGTCGT	0.468																																																0													69	65	66					2																	179452053		1909	4130	6039	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58962G>A	chr2.hg19:g.179452053C>T			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	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179452053	C	T	179452053	2	4	454	1	0	0	0	0	0	0	0	1	16740	842	30	2		2	TTN	2	179452053	Silent	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	50220	179452053	63747320	13	24807											
CPO	130749	hgsc.bcm.edu	37	2	207833968	207833968	+	Silent	SNP	G	G	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:207833968G>C	ENST00000272852.3	+	9	979	c.933G>C	c.(931-933)ctG>ctC	p.L311L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	311						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CGTTTGAGCTGAGGGACAGTG	0.512																																																0													147	133	138					2																	207833968		2203	4300	6503	SO:0001819	synonymous_variant	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.933G>C	chr2.hg19:g.207833968G>C			Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	hg19	CCDS2372.1																																																																																				0.512	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		C	207833968	G	C	207833968	2	2	454	1	0	0	0	0	0	0	0	1	3822	1277	45	4		4	CPO	2	207833968	Silent	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	28381915	207833968	35365405	14	24808											
ABCA12	26154	hgsc.bcm.edu	37	2	215840568	215840568	+	Silent	SNP	A	A	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:215840568A>G	ENST00000272895.7	-	34	5541	c.5322T>C	c.(5320-5322)taT>taC	p.Y1774Y	ABCA12_ENST00000389661.4_Silent_p.Y1456Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1774					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAATCTCTGGATAACTGTTGC	0.453																																					Ovarian(66;664 1488 5121 34295)											0													147	142	144					2																	215840568		2203	4300	6503	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5322T>C	chr2.hg19:g.215840568A>G			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	hg19	CCDS33372.1																																																																																				0.453	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		G	215840568	A	G	215840568	2	3	454	1	0	0	0	0	0	0	0	1	30	340	12	3		3	ABCA12	2	215840568	Silent	SNP	A	TCGA-BQ-5878-01A-11D-1589-08	8006600	215840568	27358805	15	24809											
TMPPE	643853	hgsc.bcm.edu	37	3	33135655	33135655	+	Silent	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr3:33135655C>T	ENST00000342462.4	-	2	223	c.33G>A	c.(31-33)gcG>gcA	p.A11A	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	11						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A11A(1)		breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGGTGGCCTTCGCGCCTAGGG	0.587																																																1	Substitution - coding silent(1)	lung(1)																																								SO:0001819	synonymous_variant	643853			AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.33G>A	chr3.hg19:g.33135655C>T			B2RNG5|Q6ZRG1	Silent	SNP	ENST00000342462.4	hg19	CCDS33732.1																																																																																				0.587	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		T	33135655	C	T	33135655	2	4	454	1	0	0	0	0	0	0	0	1	16243	871	31	1		1	TMPPE	3	33135655	Silent	SNP	C	TCGA-BQ-5878-01A-11D-1589-08		33135655	164886775	16	24810											
CTNNB1	1499	hgsc.bcm.edu	37	3	41274905	41274905	+	Silent	SNP	C	C	T	rs74692094	byFrequency	TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr3:41274905C>T	ENST00000349496.5	+	8	1435	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	CTNNB1_ENST00000405570.1_Silent_p.L385L|CTNNB1_ENST00000453024.1_Silent_p.L378L|CTNNB1_ENST00000396185.3_Silent_p.L385L|CTNNB1_ENST00000396183.3_Silent_p.L385L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	385					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTTGGACTCTCAGGAATCTTT	0.413		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	0													102	93	96					3																	41274905		2203	4300	6503	SO:0001819	synonymous_variant	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1155C>T	chr3.hg19:g.41274905C>T			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	hg19	CCDS2694.1																																																																																				0.413	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		T	41274905	C	T	41274905	2	4	454	1	0	0	0	0	0	0	0	1	4018	813	29	2		2	CTNNB1	3	41274905	Silent	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	8139250	41274905	156747525	17	24811											
TMF1	7110	hgsc.bcm.edu	37	3	69101211	69101211	+	Silent	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr3:69101211G>A	ENST00000398559.2	-	1	243	c.27C>T	c.(25-27)ctC>ctT	p.L9L	CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Silent_p.L9L			P82094	TMF1_HUMAN	TATA element modulatory factor 1	9					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CGAAGCTGGAGAGCTGGGAGG	0.642																																																0													62	65	64					3																	69101211		1931	4151	6082	SO:0001819	synonymous_variant	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.27C>T	chr3.hg19:g.69101211G>A			B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	hg19	CCDS43105.1																																																																																				0.642	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		A	69101211	G	A	69101211	2	1	454	1	0	0	0	0	0	0	0	1	16233	929	33	2		2	TMF1	3	69101211	Silent	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	27826306	69101211	128921219	18	24812											
MAPK10	5602	hgsc.bcm.edu	37	4	86950416	86950416	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr4:86950416T>C	ENST00000359221.3	-	13	1712	c.1186A>G	c.(1186-1188)Aag>Gag	p.K396E	MAPK10_ENST00000395157.3_Missense_Mutation_p.K251E|MAPK10_ENST00000395160.3_Missense_Mutation_p.K251E|MAPK10_ENST00000395161.2_Missense_Mutation_p.K396E|MAPK10_ENST00000361569.2_Missense_Mutation_p.K396E|MAPK10_ENST00000395169.3_Missense_Mutation_p.K358E|MAPK10_ENST00000395166.1_Missense_Mutation_p.K358E|MAPK10_ENST00000449047.2_Missense_Mutation_p.K251E			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	396					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ATTACTTCCTTGTAGATAAGT	0.328																																																0													172	162	166					4																	86950416		2203	4300	6503	SO:0001583	missense	5602			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1186A>G	chr4.hg19:g.86950416T>C	ENSP00000352157:p.Lys396Glu		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	hg19	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.80|15.80	2.940106|2.940106	0.52972|0.52972	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161|ENST00000515400	T;T;T;T;T;T;T;T|.	0.59083|.	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68696|0.68696	0.3029|0.3029	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.08055|.	0.0;0.002;0.003;0.002;0.001|.	T|T	0.66023|0.66023	-0.6026|-0.6026	10|5	0.33141|.	T|.	0.24|.	-19.5226|-19.5226	16.0984|16.0984	0.81148|0.81148	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	282;251;358;396;396|.	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779|.	.;.;.;.;MK10_HUMAN|.	E|R	358;396;251;396;358;251;251;396|308	ENSP00000378598:K358E;ENSP00000352157:K396E;ENSP00000378586:K251E;ENSP00000355297:K396E;ENSP00000378595:K358E;ENSP00000378589:K251E;ENSP00000414469:K251E;ENSP00000378590:K396E|.	ENSP00000352157:K396E|.	K|Q	-|-	1|2	0|0	MAPK10|MAPK10	87169440|87169440	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.935000|6.935000	0.75886|0.75886	2.278000|2.278000	0.76064|0.76064	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.328	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			C	86950416	T	C	86950416	3	2	454	1	0	0	0	0	1	0	0	0	9274	1821	63	3	221	3	MAPK10	4	86950416	Missense_Mutation	SNP	T	TCGA-BQ-5878-01A-11D-1589-08		86950416	104203860	19	24813											
LRBA	987	hgsc.bcm.edu	37	4	151827110	151827110	+	Silent	SNP	A	A	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr4:151827110A>T	ENST00000357115.3	-	13	1878	c.1635T>A	c.(1633-1635)ctT>ctA	p.L545L	LRBA_ENST00000510413.1_Silent_p.L545L|LRBA_ENST00000535741.1_Silent_p.L545L|LRBA_ENST00000507224.1_Silent_p.L545L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	545						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGCAAAGTTCAAGTACTGCTC	0.388																																																0													83	81	82					4																	151827110		2203	4300	6503	SO:0001819	synonymous_variant	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1635T>A	chr4.hg19:g.151827110A>T			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	hg19	CCDS3773.1																																																																																				0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			T	151827110	A	T	151827110	2	4	454	1	0	0	0	0	0	0	0	1	8933	117	5	5		5	LRBA	4	151827110	Silent	SNP	A	TCGA-BQ-5878-01A-11D-1589-08	64876694	151827110	39327166	20	24814											
ACCN5	51802	hgsc.bcm.edu	37	4	156763435	156763436	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr4:156763435_156763436GC>AT	ENST00000537611.2	-	6	978_979	c.932_933GC>AT	c.(931-933)aGC>aAT	p.S311N		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	311					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										AACCAGAAGTGCTGTAGCTGCT	0.416																																																0																																										SO:0001583	missense	51802			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.932_933delinsAT	chr4.hg19:g.156763435_156763436delinsAT	ENSP00000442477:p.Ser311Asn			Silent|Missense_Mutation	SNP	ENST00000537611.2	hg19	CCDS3793.1																																																																																				0.416	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			AT	156763436	GC	AT	156763435	3	1	454	1	0	0	0	0	1	0	0	0	132	1310	46	2	604	2	ACCN5	4	156763435	Missense_Mutation	DNP	GC	TCGA-BQ-5878-01A-11D-1589-08	4936325	156763435	34390841	21	24815											
HMGB2	3148	hgsc.bcm.edu	37	4	174254775	174254775	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr4:174254775G>A	ENST00000296503.5	-	2	899	c.26C>T	c.(25-27)cCg>cTg	p.P9L	HMGB2_ENST00000446922.2_Missense_Mutation_p.P9L|HMGB2_ENST00000438704.2_Missense_Mutation_p.P9L			P26583	HMGB2_HUMAN	high mobility group box 2	9					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTTGCCCCGCGGCTTGTTGGG	0.627																																																0													68	71	70					4																	174254775		2203	4300	6503	SO:0001583	missense	3148				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.26C>T	chr4.hg19:g.174254775G>A	ENSP00000296503:p.Pro9Leu		B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	hg19	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673983	0.67928	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.45	4.61	0.57282	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.088329	0.48767	D	0.000173	T	0.35128	0.0921	M	0.86097	2.795	0.80722	D	1	B	0.29481	0.245	B	0.28709	0.093	T	0.21621	-1.0240	10	0.42905	T	0.14	.	13.8749	0.63647	0.0744:0.0:0.9256:0.0	.	9	P26583	HMGB2_HUMAN	L	9	ENSP00000296503:P9L;ENSP00000393448:P9L;ENSP00000404912:P9L;ENSP00000423001:P9L	ENSP00000296503:P9L	P	-	2	0	HMGB2	174491350	1.000000	0.71417	0.938000	0.37757	0.038000	0.13279	9.505000	0.97989	1.313000	0.45069	0.563000	0.77884	CCG		0.627	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		A	174254775	G	A	174254775	3	1	454	1	0	0	0	0	1	0	0	0	7228	1116	39	1	619	1	HMGB2	4	174254775	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	17491340	174254775	16899501	22	24816											
ODZ3	55714	hgsc.bcm.edu	37	4	183664509	183664515	+	Frame_Shift_Del	DEL	GCGATTT	GCGATTT	-	rs189480567		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	GCGATTT	GCGATTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr4:183664509_183664515delGCGATTT	ENST00000511685.1	+	19	3689_3695	c.3566_3572delGCGATTT	c.(3565-3573)ggcgatttcfs	p.GDF1189fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.GDF1189fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1189					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G1189G(1)									CTGTACGTAGGCGATTTCAACTATGTG	0.473																																																1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3566_3572delGCGATTT	chr4.hg19:g.183664509_183664515delGCGATTT	ENSP00000424226:p.Gly1189fs		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Del	DEL	ENST00000511685.1	hg19	CCDS47165.1																																																																																				0.473	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			-	183664515	GCGATTT	-	183664509	7	5	454	1	0	1	0	1	0	0	0	0	10838	1203	42	0	3636	0	ODZ3	4	183664509	Frame_Shift_Del	DEL	GCGATTT	TCGA-BQ-5878-01A-11D-1589-08	9409734	183664509	7489767	23	24817											
PRLR	5618	hgsc.bcm.edu	37	5	35070231	35070231	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:35070231G>C	ENST00000382002.5	-	7	1106	c.680C>G	c.(679-681)cCt>cGt	p.P227R	PRLR_ENST00000342362.5_Missense_Mutation_p.P126R|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000511486.1_Missense_Mutation_p.P126R|PRLR_ENST00000231423.3_Missense_Mutation_p.P227R|PRLR_ENST00000348262.3_Missense_Mutation_p.P227R|PRLR_ENST00000542609.1_Missense_Mutation_p.P227R|PRLR_ENST00000397391.3_Missense_Mutation_p.P156R|PRLR_ENST00000310101.5_Missense_Mutation_p.P227R|PRLR_ENST00000513753.1_Missense_Mutation_p.P227R	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	227	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CTCACCACTAGGTATCTGAAT	0.418																																																0													105	89	94					5																	35070231		2203	4300	6503	SO:0001583	missense	5618				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.680C>G	chr5.hg19:g.35070231G>C	ENSP00000371432:p.Pro227Arg		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	hg19	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620133	0.46736	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.65	5.65	0.86999	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.90542	3.125	0.58432	D	0.999993	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	0.998;0.999;1.0;0.998;0.997;0.996;0.994	T	0.79629	-0.1724	10	0.87932	D	0	-15.5927	15.3486	0.74363	0.0:0.0:0.8598:0.1401	.	227;227;126;156;227;227;227	P16471-3;P16471;P16471-2;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.;.	R	227;227;227;156;227;126;227;126;227	ENSP00000231423:P227R;ENSP00000424841:P227R;ENSP00000311613:P227R;ENSP00000380546:P156R;ENSP00000441813:P227R;ENSP00000339213:P126R;ENSP00000371432:P227R;ENSP00000422556:P126R;ENSP00000309008:P227R	ENSP00000231423:P227R	P	-	2	0	PRLR	35105988	1.000000	0.71417	0.986000	0.45419	0.092000	0.18411	6.868000	0.75516	2.668000	0.90789	0.655000	0.94253	CCT		0.418	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			C	35070231	G	C	35070231	3	2	454	1	0	0	0	0	1	0	0	0	12536	1000	35	4	1204	4	PRLR	5	35070231	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08		35070231	145845029	24	24818											
SPOCK1	6695	hgsc.bcm.edu	37	5	136328174	136328174	+	Splice_Site	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:136328174G>A	ENST00000394945.1	-	7	874	c.705C>T	c.(703-705)ggC>ggT	p.G235G	SPOCK1_ENST00000282223.7_Splice_Site_p.G235G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	235					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGTCTTACTGCCTTGGGCTG	0.438																																																0													161	152	155					5																	136328174		2203	4300	6503	SO:0001630	splice_region_variant	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.706+1C>T	chr5.hg19:g.136328174G>A			B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	hg19	CCDS4191.1																																																																																				0.438	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598	Silent	A	136328174	G	A	136328174	5	1	454	1	0	0	0	0	0	0	1	0	15084	1333	46	2	634	2	SPOCK1	5	136328174	Splice_Site	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	101257943	136328174	44587086	25	24819											
KDM3B	51780	hgsc.bcm.edu	37	5	137715373	137715373	+	Silent	SNP	T	T	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:137715373T>C	ENST00000314358.5	+	5	881	c.681T>C	c.(679-681)cgT>cgC	p.R227R		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	227					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCATCACTCGTCTTATGGAGG	0.483																																																0													174	148	157					5																	137715373		2203	4300	6503	SO:0001819	synonymous_variant	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.681T>C	chr5.hg19:g.137715373T>C			A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	hg19	CCDS34242.1																																																																																				0.483	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		C	137715373	T	C	137715373	2	2	454	1	0	0	0	0	0	0	0	1	8129	1654	58	3		3	KDM3B	5	137715373	Silent	SNP	T	TCGA-BQ-5878-01A-11D-1589-08	1387199	137715373	43199887	26	24820											
PSD2	84249	hgsc.bcm.edu	37	5	139197069	139197069	+	Silent	SNP	C	C	T	rs142589356		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:139197069C>T	ENST00000274710.3	+	5	1225	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	340	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCAGCAACGAGTTTAGCA	0.592																																																0								C		0,4406		0,0,2203	81	76	78		1020	-0.2	1	5	dbSNP_134	78	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	PSD2	NM_032289.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		340/772	139197069	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1020C>T	chr5.hg19:g.139197069C>T			D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	hg19	CCDS4216.1																																																																																				0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		T	139197069	C	T	139197069	2	4	454	1	0	0	0	0	0	0	0	1	12652	535	19	1		1	PSD2	5	139197069	Silent	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	1481696	139197069	41718191	27	24821											
PCDHB15	56121	hgsc.bcm.edu	37	5	140625417	140625417	+	Missense_Mutation	SNP	G	G	C	rs564192004		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:140625417G>C	ENST00000231173.3	+	1	271	c.271G>C	c.(271-273)Gac>Cac	p.D91H		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	91	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGAAGCTGGACCGGGAGAA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17009	0.0		0.0	False		,,,				2504	0.0															0													54	61	59					5																	140625417		2203	4300	6503	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.271G>C	chr5.hg19:g.140625417G>C	ENSP00000231173:p.Asp91His		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	hg19	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964851	0.74131	.	.	ENSG00000113248	ENST00000231173	T	0.53640	0.61	4.92	4.92	0.64577	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.82121	0.4968	H	0.98849	4.35	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.89982	0.4101	9	0.87932	D	0	.	18.0878	0.89463	0.0:0.0:1.0:0.0	.	91	Q9Y5E8	PCDBF_HUMAN	H	91	ENSP00000231173:D91H	ENSP00000231173:D91H	D	+	1	0	PCDHB15	140605601	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.804000	0.99143	2.442000	0.82660	0.491000	0.48974	GAC		0.498	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		C	140625417	G	C	140625417	3	2	454	1	0	0	0	0	1	0	0	0	11542	1174	41	4	273	4	PCDHB15	5	140625417	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	1428348	140625417	40289843	28	24822											
F13A1	2162	hgsc.bcm.edu	37	6	6196094	6196094	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:6196094G>A	ENST00000264870.3	-	10	1506	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	414					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCTTGAACCGAGGCGGGGCC	0.502																																																0			GRCh37	CM023371|CM993150	F13A1	M							96	77	84					6																	6196094		2203	4300	6503	SO:0001583	missense	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1241C>T	chr6.hg19:g.6196094G>A	ENSP00000264870:p.Ser414Leu		Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	hg19	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831865	0.71258	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.55234	0.53	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	T	0.74621	-0.3604	10	0.87932	D	0	.	18.7232	0.91703	0.0:0.0:1.0:0.0	.	351;414	F5H080;P00488	.;F13A_HUMAN	L	414;351	ENSP00000264870:S414L	ENSP00000264870:S414L	S	-	2	0	F13A1	6141093	1.000000	0.71417	0.928000	0.36995	0.036000	0.12997	9.131000	0.94446	2.728000	0.93425	0.655000	0.94253	TCG		0.502	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		A	6196094	G	A	6196094	3	1	454	1	0	0	0	0	1	0	0	0	5342	1059	37	1	981	1	F13A1	6	6196094	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08		6196094	164918973	29	24823											
ZNF318	24149	hgsc.bcm.edu	37	6	43320114	43320114	+	Splice_Site	DEL	C	C	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:43320114delC	ENST00000361428.2	-	5	2848		c.e5+1		ZNF318_ENST00000318149.3_Splice_Site	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318						meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCAGCTGATACCTTGTTGTTT	0.418																																																0													110	97	102					6																	43320114		2203	4300	6503	SO:0001630	splice_region_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2770+1G>-	chr6.hg19:g.43320114delC			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Splice_Site	DEL	ENST00000361428.2	hg19	CCDS4895.2																																																																																				0.418	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	Intron	-	43320114	C	-	43320114	8	5	454	1	0	1	0	1	0	0	1	0	17841	521	18	0	4092	0	ZNF318	6	43320114	Splice_Site	DEL	C	TCGA-BQ-5878-01A-11D-1589-08	37124020	43320114	127794953	30	24824											
GFRAL	389400	hgsc.bcm.edu	37	6	55223928	55223928	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:55223928C>T	ENST00000340465.2	+	6	1030	c.944C>T	c.(943-945)tCa>tTa	p.S315L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	315					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S315L(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAGAAAATCATGTTTCAGT	0.343																																																1	Substitution - Missense(1)	lung(1)											62	61	61					6																	55223928		2203	4299	6502	SO:0001583	missense	389400			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.944C>T	chr6.hg19:g.55223928C>T	ENSP00000343636:p.Ser315Leu		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	hg19	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941217	0.73557	.	.	ENSG00000187871	ENST00000340465	T	0.63417	-0.04	5.52	4.66	0.58398	GDNF/GAS1 (2);	0.157695	0.42682	D	0.000663	T	0.70193	0.3196	M	0.65498	2.005	0.39285	D	0.964639	D	0.89917	1.0	D	0.97110	1.0	T	0.74589	-0.3615	10	0.54805	T	0.06	-7.1541	14.1925	0.65646	0.0:0.9283:0.0:0.0717	.	315	Q6UXV0	GFRAL_HUMAN	L	315	ENSP00000343636:S315L	ENSP00000343636:S315L	S	+	2	0	GFRAL	55331887	1.000000	0.71417	0.682000	0.30024	0.971000	0.66376	5.350000	0.66016	1.327000	0.45338	0.557000	0.71058	TCA		0.343	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		T	55223928	C	T	55223928	3	4	454	1	0	0	0	0	1	0	0	0	6353	838	29	2	966	2	GFRAL	6	55223928	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	11903814	55223928	115891139	31	24825											
AIM1	202	hgsc.bcm.edu	37	6	106968949	106968949	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:106968949A>T	ENST00000369066.3	+	2	3129	c.2642A>T	c.(2641-2643)gAg>gTg	p.E881V		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCCACGACTGAGGGTGCCCCG	0.478																																																0													70	75	73					6																	106968949		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2642A>T	chr6.hg19:g.106968949A>T	ENSP00000358062:p.Glu881Val		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	hg19	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.105028	0.37145	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.73047	-0.71	5.99	4.82	0.62117	.	1.203230	0.05682	N	0.590607	T	0.57770	0.2076	M	0.68317	2.08	0.48830	D	0.999719	B	0.26672	0.156	B	0.21917	0.037	T	0.57277	-0.7839	10	0.72032	D	0.01	.	10.8946	0.47015	0.9291:0.0:0.0709:0.0	.	881	Q9Y4K1	AIM1_HUMAN	V	1289;881	ENSP00000358062:E881V	ENSP00000285105:E1289V	E	+	2	0	AIM1	107075642	1.000000	0.71417	0.609000	0.28983	0.728000	0.41692	4.089000	0.57685	1.079000	0.41038	0.533000	0.62120	GAG		0.478	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			T	106968949	A	T	106968949	3	4	454	1	0	0	0	0	1	0	0	0	430	304	11	5	2648	5	AIM1	6	106968949	Missense_Mutation	SNP	A	TCGA-BQ-5878-01A-11D-1589-08	51745021	106968949	64146118	32	24826											
CTGF	1490	hgsc.bcm.edu	37	6	132271489	132271489	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:132271489C>T	ENST00000367976.3	-	3	684	c.484G>A	c.(484-486)Gag>Aag	p.E162K	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	162	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ACCCACTCCTCGCAGCATTTC	0.652											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(127;510 1660 12817 24400 38449)											0													90	91	91					6																	132271489		2203	4300	6503	SO:0001583	missense	1490			X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.484G>A	chr6.hg19:g.132271489C>T	ENSP00000356954:p.Glu162Lys	1594	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	hg19	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	C	37	5.984351	0.97173	.	.	ENSG00000118523	ENST00000367976	T	0.71579	-0.58	5.57	5.57	0.84162	von Willebrand factor, type C (4);	0.049682	0.85682	D	0.000000	T	0.80732	0.4679	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80946	-0.1155	10	0.59425	D	0.04	.	19.5503	0.95314	0.0:1.0:0.0:0.0	.	162	P29279	CTGF_HUMAN	K	162	ENSP00000356954:E162K	ENSP00000356954:E162K	E	-	1	0	CTGF	132313182	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.818000	0.86416	2.619000	0.88677	0.561000	0.74099	GAG		0.652	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		T	132271489	C	T	132271489	3	4	454	1	0	0	0	0	1	0	0	0	4010	893	31	1	577	1	CTGF	6	132271489	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	25302540	132271489	38843578	33	24827											
BCLAF1	9774	hgsc.bcm.edu	37	6	136596669	136596669	+	Splice_Site	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:136596669C>T	ENST00000531224.1	-	6	2105		c.e6+1		BCLAF1_ENST00000530767.1_Splice_Site|BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site|BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000392348.2_Splice_Site	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTAAGCATACCTTTAACATG	0.358																																					Colon(142;1534 1789 5427 7063 28491)											0													146	131	136					6																	136596669		2203	4300	6503	SO:0001630	splice_region_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1852+1G>A	chr6.hg19:g.136596669C>T			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Splice_Site	SNP	ENST00000531224.1	hg19	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053045	0.55218	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9665	0.86287	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCLAF1	136638362	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.683000	0.74533	2.661000	0.90470	0.460000	0.39030	.		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	Intron	T	136596669	C	T	136596669	5	4	454	1	0	0	0	0	0	0	1	0	1383	521	18	2	941	2	BCLAF1	6	136596669	Splice_Site	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	4325180	136596669	34518398	34	24828											
SASH1	23328	hgsc.bcm.edu	37	6	148808752	148808752	+	Silent	SNP	C	C	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:148808752C>G	ENST00000367467.3	+	8	1105	c.630C>G	c.(628-630)ctC>ctG	p.L210L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	210					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGTTACAGCTCAAGGAATACG	0.488																																																0													93	99	97					6																	148808752		2203	4300	6503	SO:0001819	synonymous_variant	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.630C>G	chr6.hg19:g.148808752C>G			Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	hg19	CCDS5212.1																																																																																				0.488	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		G	148808752	C	G	148808752	2	3	454	1	0	0	0	0	0	0	0	1	13854	813	29	4		4	SASH1	6	148808752	Silent	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	12212083	148808752	22306315	35	24829											
TNRC18	84629	hgsc.bcm.edu	37	7	5352384	5352384	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr7:5352384G>A	ENST00000430969.1	-	27	8486	c.8138C>T	c.(8137-8139)tCg>tTg	p.S2713L	TNRC18_ENST00000399537.4_Missense_Mutation_p.S2713L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2713							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGAGTGGGCCGAGGGCCGCGC	0.761																																																0													4	6	6					7																	5352384		1215	2847	4062	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8138C>T	chr7.hg19:g.5352384G>A	ENSP00000395538:p.Ser2713Leu		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	hg19	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.791|6.791	0.514848|0.514848	0.12944|0.12944	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399544|ENST00000399537;ENST00000430969	.|T;T	.|0.05258	.|3.47;3.47	4.31|4.31	2.46|2.46	0.29980|0.29980	.|.	.|.	.|.	.|.	.|.	T|T	0.06280|0.06280	0.0162|0.0162	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|B	.|0.12013	.|0.005	.|B	.|0.06405	.|0.002	T|T	0.45026|0.45026	-0.9289|-0.9289	6|9	0.87932|0.09590	D|T	0|0.72	.|.	10.6731|10.6731	0.45770|0.45770	0.1532:0.0:0.8468:0.0|0.1532:0.0:0.8468:0.0	.|.	.|2713	.|O15417	.|TNC18_HUMAN	W|L	1226|2713	.|ENSP00000382452:S2713L;ENSP00000395538:S2713L	ENSP00000382459:R1226W|ENSP00000382452:S2713L	R|S	-|-	1|2	2|0	TNRC18|TNRC18	5318910|5318910	0.746000|0.746000	0.28272|0.28272	0.001000|0.001000	0.08648|0.08648	0.012000|0.012000	0.07955|0.07955	2.496000|2.496000	0.45346|0.45346	0.246000|0.246000	0.21394|0.21394	0.484000|0.484000	0.47621|0.47621	CGG|TCG		0.761	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	5352384	G	A	5352384	3	1	454	1	0	0	0	0	1	0	0	0	16344	1059	37	1	784	1	TNRC18	7	5352384	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08		5352384	153786279	36	24830											
TNS3	64759	hgsc.bcm.edu	37	7	47440438	47440438	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr7:47440438G>A	ENST00000398879.1	-	14	1163	c.797C>T	c.(796-798)gCt>gTt	p.A266V	TNS3_ENST00000311160.9_Missense_Mutation_p.A266V|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	266	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCCCTGCACAGCCCCAGTGTG	0.577																																																0													78	98	91					7																	47440438		2047	4182	6229	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.797C>T	chr7.hg19:g.47440438G>A	ENSP00000381854:p.Ala266Val		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	hg19	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643525	0.87859	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.99	4.99	0.66335	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86793	0.6018	M	0.74546	2.27	0.80722	D	1	P	0.46859	0.885	P	0.45753	0.492	D	0.87020	0.2128	10	0.39692	T	0.17	-16.8831	15.8183	0.78621	0.0:0.0:1.0:0.0	.	266	Q68CZ2	TENS3_HUMAN	V	266;376;266;369;355	ENSP00000312143:A266V;ENSP00000381854:A266V;ENSP00000414358:A369V;ENSP00000396914:A355V	ENSP00000312143:A266V	A	-	2	0	TNS3	47406963	1.000000	0.71417	0.436000	0.26797	0.965000	0.64279	7.322000	0.79097	2.337000	0.79520	0.456000	0.33151	GCT		0.577	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		A	47440438	G	A	47440438	3	1	454	1	0	0	0	0	1	0	0	0	16349	971	34	2	3612	2	TNS3	7	47440438	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	42088054	47440438	111698225	37	24831											
PPP1R9A	55607	hgsc.bcm.edu	37	7	94915545	94915545	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr7:94915545C>A	ENST00000433881.1	+	13	3317	c.2785C>A	c.(2785-2787)Ccc>Acc	p.P929T	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.P929T|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.P1135T|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.P1213T|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.P1153T|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.P1153T			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	929	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGACTTCAGTCCCAGCAGTAC	0.453										HNSCC(28;0.073)																																						0													94	84	87					7																	94915545		2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2785C>A	chr7.hg19:g.94915545C>A	ENSP00000398870:p.Pro929Thr		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	hg19	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022533	0.75275	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.19669	2.14;2.32;2.18;2.32;2.13;2.18	4.99	4.99	0.66335	.	0.219511	0.40728	N	0.001031	T	0.37183	0.0994	L	0.34521	1.04	0.35638	D	0.810778	D;D;D;D;D;P	0.89917	0.979;1.0;0.999;1.0;0.999;0.682	P;D;D;D;D;B	0.79108	0.525;0.992;0.973;0.972;0.941;0.096	T	0.31888	-0.9927	10	0.45353	T	0.12	.	18.8526	0.92238	0.0:1.0:0.0:0.0	.	929;1135;1213;1153;1153;929	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;E9PCK6;Q9ULJ8	.;.;.;.;.;NEB1_HUMAN	T	1213;929;1153;929;1135;1153	ENSP00000405514:P1213T;ENSP00000344524:P929T;ENSP00000411342:P1153T;ENSP00000398870:P929T;ENSP00000289495:P1135T;ENSP00000402893:P1153T	ENSP00000289495:P1135T	P	+	1	0	PPP1R9A	94753481	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.886000	0.48578	2.758000	0.94735	0.655000	0.94253	CCC		0.453	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		A	94915545	C	A	94915545	3	1	454	1	0	0	0	0	1	0	0	0	12383	855	30	4	3703	4	PPP1R9A	7	94915545	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	47475107	94915545	64223118	38	24832											
AMAC1L2	83650	hgsc.bcm.edu	37	8	11188670	11188670	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr8:11188670C>T	ENST00000382435.4	+	1	274	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	19						integral component of membrane (GO:0016021)											CCCATCGCCGCCCTCCGCTCC	0.677																																																0													54	56	55					8																	11188670		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.55C>T	chr8.hg19:g.11188670C>T	ENSP00000371872:p.Pro19Ser		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	hg19	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250440	0.22880	.	.	ENSG00000177710	ENST00000382435	T	0.27256	1.68	0.34	0.34	0.15985	.	0.159640	0.29321	N	0.012484	T	0.28797	0.0714	N	0.24115	0.695	0.09310	N	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.08310	-1.0728	9	0.35671	T	0.21	-11.4858	.	.	.	.	19	Q96KT7	S35G5_HUMAN	S	19	ENSP00000371872:P19S	ENSP00000371872:P19S	P	+	1	0	SLC35G5	11226080	0.007000	0.16637	0.221000	0.23827	0.172000	0.22775	0.166000	0.16583	0.426000	0.26116	0.089000	0.15464	CCC		0.677	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		T	11188670	C	T	11188670	3	4	454	1	0	0	0	0	1	0	0	0	560	739	26	2	57	2	AMAC1L2	8	11188670	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08		11188670	135175352	39	24833											
ANK1	286	hgsc.bcm.edu	37	8	41577342	41577342	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr8:41577342C>T	ENST00000347528.4	-	10	1027	c.944G>A	c.(943-945)gGa>gAa	p.G315E	ANK1_ENST00000265709.8_Missense_Mutation_p.G348E|ANK1_ENST00000396942.1_Missense_Mutation_p.G315E|ANK1_ENST00000379758.2_Missense_Mutation_p.G315E|ANK1_ENST00000352337.4_Missense_Mutation_p.G315E|ANK1_ENST00000289734.7_Missense_Mutation_p.G315E|ANK1_ENST00000396945.1_Missense_Mutation_p.G315E	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	315	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGGTGGTCTCCCTGAGCCGC	0.567																																																0													178	151	160					8																	41577342		2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.944G>A	chr8.hg19:g.41577342C>T	ENSP00000339620:p.Gly315Glu		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	hg19	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138021	0.94517	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	N	0.17345	0.48	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.744;1.0;1.0	D;D;B;D;D	0.97110	1.0;1.0;0.414;0.988;1.0	T	0.71728	-0.4505	10	0.54805	T	0.06	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	348;315;315;315;315	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	E	315;315;315;315;315;315;348;315	ENSP00000339620:G315E;ENSP00000289734:G315E;ENSP00000369082:G315E;ENSP00000380149:G315E;ENSP00000380147:G315E;ENSP00000309131:G315E;ENSP00000265709:G348E	ENSP00000265709:G348E	G	-	2	0	ANK1	41696499	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.757000	0.85209	2.813000	0.96785	0.655000	0.94253	GGA		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		T	41577342	C	T	41577342	3	4	454	1	0	0	0	0	1	0	0	0	620	855	30	2	5187	2	ANK1	8	41577342	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	30388672	41577342	104786680	40	24834											
SPIN1	10927	hgsc.bcm.edu	37	9	91083448	91083448	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr9:91083448G>C	ENST00000375859.3	+	5	795	c.517G>C	c.(517-519)Gac>Cac	p.D173H	SPIN1_ENST00000541629.1_Missense_Mutation_p.D173H|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	173	Tudor-like domain 2.				chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CTATGAGAAAGACCCTGTCTT	0.403																																																0													188	182	184					9																	91083448		2158	4287	6445	SO:0001583	missense	10927			AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"spindlin"	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.517G>C	chr9.hg19:g.91083448G>C	ENSP00000365019:p.Asp173His		A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	hg19	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466930	0.84425	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.55588	0.51;0.51	5.12	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73353	-0.4009	10	0.87932	D	0	-20.5419	14.8406	0.70220	0.0:0.0:0.8552:0.1448	.	173	Q9Y657	SPIN1_HUMAN	H	173	ENSP00000365019:D173H;ENSP00000441864:D173H	ENSP00000365019:D173H	D	+	1	0	SPIN1	90273268	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.155000	0.94700	1.327000	0.45338	0.655000	0.94253	GAC		0.403	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		C	91083448	G	C	91083448	3	2	454	1	0	0	0	0	1	0	0	0	15057	942	33	4	531	4	SPIN1	9	91083448	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08		91083448	50129983	41	24835											
SPAG6	9576	hgsc.bcm.edu	37	10	22676767	22676767	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:22676767G>T	ENST00000376624.3	+	6	836	c.694G>T	c.(694-696)Gct>Tct	p.A232S	SPAG6_ENST00000376603.2_Missense_Mutation_p.A308S|SPAG6_ENST00000313311.6_Missense_Mutation_p.A232S|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.A207S|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	232					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GATCCTTTCAGCTCTCAGTCA	0.373																																																0													78	77	77					10																	22676767		2203	4300	6503	SO:0001583	missense	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.694G>T	chr10.hg19:g.22676767G>T	ENSP00000365811:p.Ala232Ser		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	hg19	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620704	0.46736	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.64	3.8	0.43715	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86936	0.6053	M	0.83953	2.67	0.58432	D	0.999999	P;P;P;P	0.49783	0.795;0.928;0.866;0.74	P;P;P;P	0.55222	0.714;0.771;0.508;0.588	D	0.87333	0.2326	10	0.66056	D	0.02	-21.9001	12.0263	0.53373	0.1391:0.0:0.8609:0.0	.	207;308;232;232	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	S	232;308;207;232	ENSP00000365811:A232S;ENSP00000365788:A308S;ENSP00000441325:A207S;ENSP00000323599:A232S	ENSP00000323599:A232S	A	+	1	0	SPAG6	22716773	1.000000	0.71417	0.582000	0.28627	0.580000	0.36256	6.587000	0.74071	0.744000	0.32741	0.655000	0.94253	GCT		0.373	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			T	22676767	G	T	22676767	3	4	454	1	0	0	0	0	1	0	0	0	14988	971	34	4	716	4	SPAG6	10	22676767	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08		22676767	112857980	42	24836											
PIP4K2A	5305	hgsc.bcm.edu	37	10	23003187	23003187	+	Silent	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:23003187G>A	ENST00000376573.4	-	1	297	c.69C>T	c.(67-69)ttC>ttT	p.F23F	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	23					megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TCTGCGCTACGAAGTGCTTCT	0.647																																																0													94	85	88					10																	23003187		2203	4300	6503	SO:0001819	synonymous_variant	5305			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.69C>T	chr10.hg19:g.23003187G>A			B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Silent	SNP	ENST00000376573.4	hg19	CCDS7141.1																																																																																				0.647	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		A	23003187	G	A	23003187	2	1	454	1	0	0	0	0	0	0	0	1	11938	1049	37	1		1	PIP4K2A	10	23003187	Silent	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	326420	23003187	112531560	43	24837											
ZNF485	220992	hgsc.bcm.edu	37	10	44112496	44112496	+	Silent	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:44112496C>T	ENST00000361807.3	+	5	1199	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ZNF485_ENST00000374437.2_Silent_p.F244F|ZNF485_ENST00000374435.3_Silent_p.F335F	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAAATCTTTCAGGTATAGCT	0.428																																																0													117	117	117					10																	44112496		2203	4300	6503	SO:0001819	synonymous_variant	220992			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1005C>T	chr10.hg19:g.44112496C>T			B4DSE6|Q96CL0	Silent	SNP	ENST00000361807.3	hg19	CCDS7205.2																																																																																				0.428	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		T	44112496	C	T	44112496	2	4	454	1	0	0	0	0	0	0	0	1	17943	825	29	2		2	ZNF485	10	44112496	Silent	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	21109309	44112496	91422251	44	24838											
PCDH15	65217	hgsc.bcm.edu	37	10	55583106	55583106	+	Silent	SNP	G	G	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:55583106G>C	ENST00000320301.6	-	33	4774	c.4380C>G	c.(4378-4380)ctC>ctG	p.L1460L	PCDH15_ENST00000395432.2_Silent_p.L1420L|PCDH15_ENST00000395430.1_Silent_p.L1457L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.L1437L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Silent_p.L1462L|PCDH15_ENST00000437009.1_Silent_p.L1391L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1460					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAAATGGTAGAGAAGGAAAA	0.363										HNSCC(58;0.16)																																						0													94	97	96					10																	55583106		2203	4300	6503	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4380C>G	chr10.hg19:g.55583106G>C			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	hg19	CCDS7248.1																																																																																				0.363	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		C	55583106	G	C	55583106	2	2	454	1	0	0	0	0	0	0	0	1	11513	929	33	4		4	PCDH15	10	55583106	Silent	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	11470610	55583106	79951641	45	24839											
FAM178A	55719	hgsc.bcm.edu	37	10	102683799	102683799	+	Silent	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:102683799C>T	ENST00000238961.4	+	5	1583	c.1041C>T	c.(1039-1041)agC>agT	p.S347S	FAM178A_ENST00000370271.3_Silent_p.S347S|FAM178A_ENST00000370269.3_Silent_p.S347S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	347						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											ATCTGAAAAGCACAAGAGAAT	0.343																																																0													44	43	43					10																	102683799		2203	4300	6503	SO:0001819	synonymous_variant	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1041C>T	chr10.hg19:g.102683799C>T			A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	hg19	CCDS7500.1																																																																																				0.343	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			T	102683799	C	T	102683799	2	4	454	1	0	0	0	0	0	0	0	1	5505	709	25	2		2	FAM178A	10	102683799	Silent	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	47100693	102683799	32850948	46	24840											
NFKB2	4791	hgsc.bcm.edu	37	10	104161522	104161522	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:104161522G>C	ENST00000369966.3	+	21	2564	c.2314G>C	c.(2314-2316)Gat>Cat	p.D772H	NFKB2_ENST00000189444.6_Missense_Mutation_p.D772H|NFKB2_ENST00000428099.1_Missense_Mutation_p.D772H	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	772	Death.		Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GTCACTTGGTGATACAGCTCT	0.597			T	IGH@	B-NHL																																		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													47	47	47					10																	104161522		1987	4164	6151	SO:0001583	missense	4791			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.2314G>C	chr10.hg19:g.104161522G>C	ENSP00000358983:p.Asp772His		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	hg19	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	g	15.85	2.954405	0.53293	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.21543	2.0;2.0;2.0	3.79	3.79	0.43588	Death (1);DEATH-like (2);	0.428788	0.25052	N	0.033513	T	0.17109	0.0411	L	0.36672	1.1	0.20403	N	0.999908	P;P	0.50943	0.94;0.94	P;P	0.44732	0.459;0.459	T	0.11397	-1.0589	10	0.59425	D	0.04	.	6.0921	0.20001	0.1804:0.0:0.8196:0.0	.	772;772	Q00653;A8K9D9	NFKB2_HUMAN;.	H	772	ENSP00000410256:D772H;ENSP00000358983:D772H;ENSP00000189444:D772H	ENSP00000189444:D772H	D	+	1	0	NFKB2	104151512	1.000000	0.71417	0.127000	0.21898	0.959000	0.62525	4.901000	0.63259	2.105000	0.64084	0.556000	0.70494	GAT		0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			C	104161522	G	C	104161522	3	2	454	1	0	0	0	0	1	0	0	0	10378	1290	45	4	2392	4	NFKB2	10	104161522	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	1477723	104161522	31373225	47	24841											
OR51B6	390058	hgsc.bcm.edu	37	11	5373545	5373545	+	Missense_Mutation	SNP	G	G	T	rs138981931		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:5373545G>T	ENST00000380219.1	+	1	808	c.808G>T	c.(808-810)Gtt>Ttt	p.V270F	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	270					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)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTCATGTCGTTCACATCAC	0.398																																																0													215	193	200					11																	5373545		2201	4297	6498	SO:0001583	missense	390058				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.808G>T	chr11.hg19:g.5373545G>T	ENSP00000369568:p.Val270Phe			Missense_Mutation	SNP	ENST00000380219.1	hg19	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.618023	0.46736	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00130	8.69	5.13	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.136091	0.33127	N	0.005251	T	0.00412	0.0013	M	0.76838	2.35	0.09310	N	1	D	0.71674	0.998	D	0.74674	0.984	T	0.38222	-0.9671	10	0.87932	D	0	.	8.1363	0.31056	0.0849:0.1595:0.7556:0.0	.	270	Q9H340	O51B6_HUMAN	F	269;270	ENSP00000369568:V270F	ENSP00000369568:V270F	V	+	1	0	OR51B6	5330121	0.114000	0.22134	0.847000	0.33407	0.957000	0.61999	0.805000	0.27112	1.379000	0.46325	0.650000	0.86243	GTT		0.398	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		T	5373545	G	T	5373545	3	4	454	1	0	0	0	0	1	0	0	0	11094	1145	40	4	810	4	OR51B6	11	5373545	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08		5373545	129632971	48	24842											
TUB	7275	hgsc.bcm.edu	37	11	8120419	8120419	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:8120419C>G	ENST00000299506.2	+	9	1262	c.1113C>G	c.(1111-1113)tgC>tgG	p.C371W	TUB_ENST00000305253.4_Missense_Mutation_p.C426W|TUB_ENST00000534099.1_Missense_Mutation_p.C377W	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	371					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CAGCTGTGTGCTACGTGAGTC	0.502											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													114	108	110					11																	8120419		2201	4296	6497	SO:0001583	missense	7275			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1113C>G	chr11.hg19:g.8120419C>G	ENSP00000299506:p.Cys371Trp	646	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	hg19	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122978	0.56613	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.96300	-3.97;-3.97;-3.97	5.27	3.41	0.39046	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.97473	0.9173	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.987	D	0.96862	0.9633	10	0.62326	D	0.03	0.2328	10.0609	0.42275	0.0:0.7635:0.0:0.2365	.	377;371;426	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	W	377;426;371	ENSP00000434400:C377W;ENSP00000305426:C426W;ENSP00000299506:C371W	ENSP00000299506:C371W	C	+	3	2	TUB	8076995	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.369000	0.44231	0.723000	0.32274	0.555000	0.69702	TGC		0.502	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		G	8120419	C	G	8120419	3	3	454	1	0	0	0	0	1	0	0	0	16747	805	28	4	1358	4	TUB	11	8120419	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	2746874	8120419	126886097	49	24843											
ELP4	26610	hgsc.bcm.edu	37	11	31561263	31561263	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:31561263A>G	ENST00000350638.5	+	3	349	c.314A>G	c.(313-315)gAa>gGa	p.E105G	ELP4_ENST00000379163.5_Missense_Mutation_p.E105G|ELP4_ENST00000395934.2_Missense_Mutation_p.E105G	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	105					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|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)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TTCCTGGCAGAAGGAATTGTC	0.338																																																0													192	161	170					11																	31561263		1821	4080	5901	SO:0001583	missense	26610			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.314A>G	chr11.hg19:g.31561263A>G	ENSP00000298937:p.Glu105Gly		B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	hg19	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257149	0.80246	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.57595	0.39;0.39;0.39	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.77491	0.4138	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.82748	-0.0304	10	0.72032	D	0.01	-12.448	15.207	0.73186	1.0:0.0:0.0:0.0	.	105;105;105	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	G	105	ENSP00000298937:E105G;ENSP00000368461:E105G;ENSP00000379267:E105G	ENSP00000298937:E105G	E	+	2	0	ELP4	31517839	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.890000	0.87313	2.124000	0.65301	0.383000	0.25322	GAA		0.338	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		G	31561263	A	G	31561263	3	3	454	1	0	0	0	0	1	0	0	0	5084	246	9	3	324	3	ELP4	11	31561263	Missense_Mutation	SNP	A	TCGA-BQ-5878-01A-11D-1589-08	23440844	31561263	103445253	50	24844											
OR4A16	81327	hgsc.bcm.edu	37	11	55111508	55111508	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:55111508C>A	ENST00000314721.2	+	1	882	c.832C>A	c.(832-834)Ctc>Atc	p.L278I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AATTATCACACTCATGTTGAA	0.323																																																0													89	85	86					11																	55111508		2201	4296	6497	SO:0001583	missense	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.832C>A	chr11.hg19:g.55111508C>A	ENSP00000325128:p.Leu278Ile		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	hg19	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	10.38	1.333574	0.24167	.	.	ENSG00000181961	ENST00000314721	T	0.37058	1.22	2.86	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.26304	0.0642	N	0.08118	0	0.21802	N	0.999535	B	0.31599	0.33	B	0.40602	0.334	T	0.37126	-0.9719	9	0.87932	D	0	.	11.4549	0.50176	0.0:1.0:0.0:0.0	.	278	Q8NH70	O4A16_HUMAN	I	278	ENSP00000325128:L278I	ENSP00000325128:L278I	L	+	1	0	OR4A16	54868084	0.438000	0.25602	0.986000	0.45419	0.221000	0.24807	6.035000	0.70940	1.606000	0.50161	0.423000	0.28283	CTC		0.323	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		A	55111508	C	A	55111508	3	1	454	1	0	0	0	0	1	0	0	0	11043	565	20	4	834	4	OR4A16	11	55111508	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	23550245	55111508	79895008	51	24845											
RAB6A	5870	hgsc.bcm.edu	37	11	73418504	73418504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:73418504delA	ENST00000336083.3	-	6	911	c.456delT	c.(454-456)tttfs	p.F152fs	RAB6A_ENST00000541588.1_Intron|RAB6A_ENST00000536566.1_Frame_Shift_Del_p.F119fs|RAB6A_ENST00000310653.6_Frame_Shift_Del_p.F152fs	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	152					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						TAGTTTCAATAAACATAACAT	0.348																																																0													189	175	180					11																	73418504		2200	4293	6493	SO:0001589	frameshift_variant	5870			AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"RAB, member RAS oncogene"	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.456delT	chr11.hg19:g.73418504delA	ENSP00000336850:p.Phe152fs		A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Frame_Shift_Del	DEL	ENST00000336083.3	hg19	CCDS8224.1																																																																																				0.348	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259241.2			-	73418504	A	-	73418504	7	5	454	1	0	1	0	1	0	0	0	0	12957	359	13	0	182	0	RAB6A	11	73418504	Frame_Shift_Del	DEL	A	TCGA-BQ-5878-01A-11D-1589-08	18306996	73418504	61588012	52	24846											
USP28	57646	hgsc.bcm.edu	37	11	113679118	113679119	+	Frame_Shift_Ins	INS	-	-	TG	rs2465647	byFrequency	TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:113679118_113679119insTG	ENST00000003302.4	-	18	2273_2274	c.2205_2206insCA	c.(2203-2208)tcgtctfs	p.S736fs	USP28_ENST00000545540.1_Frame_Shift_Ins_p.S611fs|USP28_ENST00000260188.5_Frame_Shift_Ins_p.S736fs|USP28_ENST00000544967.1_Frame_Shift_Ins_p.S444fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	736					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCATGCTCAGACGACAAGCAGC	0.47																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0																																										SO:0001589	frameshift_variant	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2205_2206insCA	chr11.hg19:g.113679118_113679119insTG	ENSP00000003302:p.Ser736fs		B0YJC0|B0YJC1|Q9P213	Frame_Shift_Ins	INS	ENST00000003302.4	hg19	CCDS31680.1																																																																																				0.47	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			TG	113679119	-	TG	113679118	7	5	454	1	0	1	1	0	0	0	0	0	17063	275	10	0	1059	0	USP28	11	113679118	Frame_Shift_Ins	INS	-	TCGA-BQ-5878-01A-11D-1589-08	40260614	113679118	21327398	53	24847											
MAGOHB	55110	hgsc.bcm.edu	37	12	10766047	10766047	+	Silent	SNP	G	G	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr12:10766047G>T	ENST00000320756.2	-	1	175	c.85C>A	c.(85-87)Cgg>Agg	p.R29R	MAGOHB_ENST00000539554.1_Intron|MAGOHB_ENST00000381881.2_Silent_p.R29R	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	29					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						CCGTCCGGCCGAAATTCGAAC	0.617																																																0													97	98	97					12																	10766047		2203	4300	6503	SO:0001819	synonymous_variant	55110				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.85C>A	chr12.hg19:g.10766047G>T				Silent	SNP	ENST00000320756.2	hg19	CCDS8628.1																																																																																				0.617	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399616.1	NM_018048		T	10766047	G	T	10766047	2	4	454	1	0	0	0	0	0	0	0	1	9197	1057	37	4		4	MAGOHB	12	10766047	Silent	SNP	G	TCGA-BQ-5878-01A-11D-1589-08		10766047	123085848	54	24848											
MLL2	8085	hgsc.bcm.edu	37	12	49434210	49434210	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr12:49434210delT	ENST00000301067.7	-	31	7342	c.7343delA	c.(7342-7344)gacfs	p.D2448fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2448	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGAATAAGGGTCAGGGGACTG	0.612																																																0													43	49	47					12																	49434210		2063	4194	6257	SO:0001589	frameshift_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7343delA	chr12.hg19:g.49434210delT	ENSP00000301067:p.Asp2448fs		O14687	Frame_Shift_Del	DEL	ENST00000301067.7	hg19	CCDS44873.1																																																																																				0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			-	49434210	T	-	49434210	7	5	454	1	0	1	0	1	0	0	0	0	9623	1667	58	0	9366	0	MLL2	12	49434210	Frame_Shift_Del	DEL	T	TCGA-BQ-5878-01A-11D-1589-08	38668163	49434210	84417685	55	24849											
CIT	11113	hgsc.bcm.edu	37	12	120173153	120173153	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr12:120173153C>T	ENST00000261833.7	-	24	2894	c.2842G>A	c.(2842-2844)Gac>Aac	p.D948N	CIT_ENST00000392521.2_Missense_Mutation_p.D990N|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	948					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCCTCCAGGTCTGTGATTACC	0.458																																																0													190	170	177					12																	120173153		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2842G>A	chr12.hg19:g.120173153C>T	ENSP00000261833:p.Asp948Asn		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	hg19	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553919	0.86231	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.65178	-0.08;-0.14	5.06	5.06	0.68205	.	0.054479	0.64402	D	0.000001	T	0.58104	0.2099	N	0.24115	0.695	0.80722	D	1	D;P;B	0.56035	0.974;0.805;0.447	P;B;B	0.47981	0.563;0.346;0.223	T	0.65059	-0.6260	10	0.72032	D	0.01	.	18.797	0.91999	0.0:1.0:0.0:0.0	.	990;948;481	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	N	990;948	ENSP00000376306:D990N;ENSP00000261833:D948N	ENSP00000261833:D948N	D	-	1	0	CIT	118657536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.505000	0.84491	0.655000	0.94253	GAC		0.458	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		T	120173153	C	T	120173153	3	4	454	1	0	0	0	0	1	0	0	0	3440	913	32	2	3337	2	CIT	12	120173153	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	70738943	120173153	13678742	56	24850											
OASL	8638	hgsc.bcm.edu	37	12	121465530	121465530	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr12:121465530C>A	ENST00000257570.5	-	4	1018	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	250					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCTCGTCTTCTTCAGTACCC	0.478																																					Colon(192;517 2041 31392 31913 39966)											0													142	116	125					12																	121465530		2203	4300	6503	SO:0001587	stop_gained	8638			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.748G>T	chr12.hg19:g.121465530C>A	ENSP00000257570:p.Glu250*		B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Nonsense_Mutation	SNP	ENST00000257570.5	hg19	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434616	0.83885	.	.	ENSG00000135114	ENST00000257570	.	.	.	5.58	-2.54	0.06307	.	3.081050	0.00951	N	0.002969	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-20.7634	0.3898	0.00408	0.2468:0.2802:0.242:0.231	.	.	.	.	X	250	.	ENSP00000257570:E250X	E	-	1	0	OASL	119949913	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.430000	0.02434	-0.099000	0.12263	-0.302000	0.09304	GAA		0.478	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		A	121465530	C	A	121465530	4	1	454	1	0	0	0	0	0	1	0	0	10804	922	32	4	808	4	OASL	12	121465530	Nonsense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	1292377	121465530	12386365	57	24851											
C14orf93	60686	hgsc.bcm.edu	37	14	23467861	23467861	+	Silent	SNP	A	A	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr14:23467861A>C	ENST00000299088.6	-	2	801	c.372T>G	c.(370-372)ccT>ccG	p.P124P	RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Silent_p.P124P|C14orf93_ENST00000341470.4_Silent_p.P124P|C14orf93_ENST00000397382.4_Silent_p.P124P|C14orf93_ENST00000406429.2_Silent_p.P124P|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000557513.1_5'Flank	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	124						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TGAGAGGCCCAGGCTCCTCAG	0.597																																																0													58	60	59					14																	23467861		2203	4300	6503	SO:0001819	synonymous_variant	60686			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.372T>G	chr14.hg19:g.23467861A>C			B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Silent	SNP	ENST00000299088.6	hg19	CCDS9583.1																																																																																				0.597	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		C	23467861	A	C	23467861	2	2	454	1	0	0	0	0	0	0	0	1	1784	175	7	5		5	C14orf93	14	23467861	Silent	SNP	A	TCGA-BQ-5878-01A-11D-1589-08		23467861	83881679	58	24852											
SOS2	6655	hgsc.bcm.edu	37	14	50605361	50605361	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr14:50605361G>A	ENST00000216373.5	-	18	3201	c.2927C>T	c.(2926-2928)cCt>cTt	p.P976L	SOS2_ENST00000543680.1_Missense_Mutation_p.P943L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	976	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TAAACAGTAAGGCTGATTCTG	0.308																																																0													92	92	92					14																	50605361		2201	4299	6500	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2927C>T	chr14.hg19:g.50605361G>A	ENSP00000216373:p.Pro976Leu		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	hg19	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254361	0.95336	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.35048	1.33;1.33	5.6	5.6	0.85130	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	M	0.87381	2.88	0.80722	D	1	D;D	0.58620	0.983;0.965	P;P	0.55087	0.768;0.708	T	0.69198	-0.5208	10	0.87932	D	0	.	19.6046	0.95575	0.0:0.0:1.0:0.0	.	943;976	B7ZKT6;Q07890	.;SOS2_HUMAN	L	976;943	ENSP00000216373:P976L;ENSP00000445328:P943L	ENSP00000216373:P976L	P	-	2	0	SOS2	49675111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.405000	0.97313	2.640000	0.89533	0.655000	0.94253	CCT		0.308	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			A	50605361	G	A	50605361	3	1	454	1	0	0	0	0	1	0	0	0	14943	1000	35	2	1095	2	SOS2	14	50605361	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	27137500	50605361	56744179	59	24853											
AK7	122481	hgsc.bcm.edu	37	14	96917831	96917831	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr14:96917831G>A	ENST00000267584.4	+	10	1066	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	341					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTTAATATTCGATGGGCTGCC	0.393																																																0													94	90	91					14																	96917831		2203	4300	6503	SO:0001583	missense	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1022G>A	chr14.hg19:g.96917831G>A	ENSP00000267584:p.Arg341Gln		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	hg19	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	9.591	1.126082	0.20959	.	.	ENSG00000140057	ENST00000267584	T	0.61040	0.14	5.72	5.72	0.89469	.	0.354917	0.31772	N	0.007090	T	0.47948	0.1473	L	0.60455	1.87	0.54753	D	0.999986	P	0.35527	0.507	B	0.19666	0.026	T	0.46830	-0.9163	10	0.30078	T	0.28	-17.9477	12.7326	0.57206	0.0789:0.0:0.9211:0.0	.	341	Q96M32	KAD7_HUMAN	Q	341	ENSP00000267584:R341Q	ENSP00000267584:R341Q	R	+	2	0	AK7	95987584	0.290000	0.24343	0.621000	0.29145	0.004000	0.04260	2.176000	0.42500	2.711000	0.92665	0.655000	0.94253	CGA		0.393	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			A	96917831	G	A	96917831	3	1	454	1	0	0	0	0	1	0	0	0	444	1058	37	1	1060	1	AK7	14	96917831	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	46312470	96917831	10431709	60	24854											
ARHGAP11A	9824	hgsc.bcm.edu	37	15	32929514	32929514	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr15:32929514C>T	ENST00000361627.3	+	12	3262	c.2540C>T	c.(2539-2541)tCt>tTt	p.S847F	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.S658F|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.S658F	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	847					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGAATTAATTCTTTGTTGGAG	0.408																																					Colon(45;757 1134 30003 36652)											0													121	128	125					15																	32929514		2201	4300	6501	SO:0001583	missense	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2540C>T	chr15.hg19:g.32929514C>T	ENSP00000355090:p.Ser847Phe		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	hg19	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331080	0.81690	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.34667	1.35	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000025	T	0.65450	0.2692	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68655	-0.5351	10	0.87932	D	0	.	19.7686	0.96352	0.0:1.0:0.0:0.0	.	847	Q6P4F7	RHGBA_HUMAN	F	847;658	ENSP00000355090:S847F	ENSP00000355090:S847F	S	+	2	0	ARHGAP11A	30716806	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.951000	0.75983	2.665000	0.90641	0.591000	0.81541	TCT		0.408	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		T	32929514	C	T	32929514	3	4	454	1	0	0	0	0	1	0	0	0	863	913	32	2	2609	2	ARHGAP11A	15	32929514	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08		32929514	69601878	61	24855											
MAP2K5	5607	hgsc.bcm.edu	37	15	67956981	67956981	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr15:67956981G>C	ENST00000178640.5	+	13	1472	c.845G>C	c.(844-846)aGa>aCa	p.R282T	MAP2K5_ENST00000354498.5_Missense_Mutation_p.R246T|MAP2K5_ENST00000340972.4_Missense_Mutation_p.R92T|MAP2K5_ENST00000395476.2_Missense_Mutation_p.R282T	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R282T(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						ATTTTACATAGAGGTATGTGC	0.333																																																2	Substitution - Missense(2)	endometrium(2)											112	114	113					15																	67956981		2199	4297	6496	SO:0001583	missense	5607			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"Mitogen-activated protein kinase cascade / Kinase kinases"	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.845G>C	chr15.hg19:g.67956981G>C	ENSP00000178640:p.Arg282Thr		B4DE43|Q92961|Q92962	Missense_Mutation	SNP	ENST00000178640.5	hg19	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501730	0.85176	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000340972	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	6.04	6.04	0.98038	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	H	0.98048	4.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78226	-0.2286	10	0.87932	D	0	-21.9076	18.7754	0.91910	0.0:0.0:1.0:0.0	.	92;282;282	A6NK28;Q13163-2;Q13163	.;.;MP2K5_HUMAN	T	282;282;282;246;92	ENSP00000378859:R282T;ENSP00000178640:R282T;ENSP00000346493:R246T;ENSP00000342101:R92T	ENSP00000178640:R282T	R	+	2	0	MAP2K5	65744035	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.843000	0.86859	2.873000	0.98535	0.563000	0.77884	AGA		0.333	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162		C	67956981	G	C	67956981	3	2	454	1	0	0	0	0	1	0	0	0	9242	942	33	4	895	4	MAP2K5	15	67956981	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	35027467	67956981	34574411	62	24856											
AGBL1	123624	hgsc.bcm.edu	37	15	87217502	87217502	+	Splice_Site	SNP	A	A	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr15:87217502A>G	ENST00000441037.2	+	22	3014		c.e22-1		AGBL1_ENST00000389298.3_Splice_Site|AGBL1_ENST00000421325.2_Splice_Site	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.?(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTTAACTGGCAGGGTCTACAG	0.478																																																1	Unknown(1)	lung(1)											52	49	50					15																	87217502		1970	4174	6144	SO:0001630	splice_region_variant	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2920-1A>G	chr15.hg19:g.87217502A>G			A1A4X5|A6NJH6|C9JHL5	Splice_Site	SNP	ENST00000441037.2	hg19	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.744859	0.69418	.	.	ENSG00000166748	ENST00000421325;ENST00000389298	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.967	0.58490	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGBL1	85018506	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	5.346000	0.65992	2.068000	0.61886	0.460000	0.39030	.		0.478	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	Intron	G	87217502	A	G	87217502	5	3	454	1	0	0	0	0	0	0	1	0	375	202	7	3	3000	3	AGBL1	15	87217502	Splice_Site	SNP	A	TCGA-BQ-5878-01A-11D-1589-08	19260521	87217502	15313890	63	24857											
SRRM2	23524	hgsc.bcm.edu	37	16	2816146	2816146	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr16:2816146C>G	ENST00000301740.8	+	11	6166	c.5617C>G	c.(5617-5619)Cac>Gac	p.H1873D		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1873	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCAGCCACTCACCGGCGATC	0.612																																																0													80	77	78					16																	2816146		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5617C>G	chr16.hg19:g.2816146C>G	ENSP00000301740:p.His1873Asp		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	2.782	-0.253191	0.05829	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.24538	1.85	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000006	T	0.27489	0.0675	N	0.08118	0	0.35745	D	0.819014	D	0.65815	0.995	P	0.57911	0.829	T	0.42189	-0.9466	10	0.52906	T	0.07	-12.2072	16.5384	0.84377	0.0:1.0:0.0:0.0	.	1873	Q9UQ35	SRRM2_HUMAN	D	1873;1873;1125	ENSP00000301740:H1873D	ENSP00000301740:H1873D	H	+	1	0	SRRM2	2756147	0.881000	0.30235	1.000000	0.80357	0.997000	0.91878	1.956000	0.40382	2.492000	0.84095	0.650000	0.86243	CAC		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			G	2816146	C	G	2816146	3	3	454	1	0	0	0	0	1	0	0	0	15174	826	29	4	5655	4	SRRM2	16	2816146	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08		2816146	87538607	64	24858											
SRRM2	23524	hgsc.bcm.edu	37	16	2818196	2818196	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr16:2818196C>G	ENST00000301740.8	+	11	8216	c.7667C>G	c.(7666-7668)tCt>tGt	p.S2556C	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2556	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						tcctcctcctcTGGCTCCAGT	0.572																																																0													56	51	53					16																	2818196		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7667C>G	chr16.hg19:g.2818196C>G	ENSP00000301740:p.Ser2556Cys		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951695	0.73787	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.77877	-1.13	5.91	5.91	0.95273	.	0.000000	0.51477	D	0.000098	D	0.82586	0.5069	L	0.32530	0.975	0.36253	D	0.854052	D	0.76494	0.999	D	0.77557	0.99	D	0.85933	0.1453	10	0.62326	D	0.03	-5.5072	15.8054	0.78501	0.0:1.0:0.0:0.0	.	2556	Q9UQ35	SRRM2_HUMAN	C	2556;2138;1808	ENSP00000301740:S2556C	ENSP00000301740:S2556C	S	+	2	0	SRRM2	2758197	0.998000	0.40836	1.000000	0.80357	0.886000	0.51366	4.236000	0.58675	2.808000	0.96608	0.655000	0.94253	TCT		0.572	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			G	2818196	C	G	2818196	3	3	454	1	0	0	0	0	1	0	0	0	15174	913	32	4	7705	4	SRRM2	16	2818196	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	2050	2818196	87536557	65	24859											
LONP2	83752	hgsc.bcm.edu	37	16	48385617	48385617	+	Silent	SNP	T	T	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr16:48385617T>C	ENST00000285737.4	+	15	2556	c.2463T>C	c.(2461-2463)ttT>ttC	p.F821F	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Silent_p.F777F	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATTTAAGTTTTGTCACAGCAA	0.473																																																0													89	85	86					16																	48385617		2200	4300	6500	SO:0001819	synonymous_variant	83752			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2463T>C	chr16.hg19:g.48385617T>C				Silent	SNP	ENST00000285737.4	hg19	CCDS10734.1																																																																																				0.473	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		C	48385617	T	C	48385617	2	2	454	1	0	0	0	0	0	0	0	1	8895	1809	63	3		3	LONP2	16	48385617	Silent	SNP	T	TCGA-BQ-5878-01A-11D-1589-08	45567421	48385617	41969136	66	24860											
ZFHX3	463	hgsc.bcm.edu	37	16	72828734	72828734	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr16:72828734C>T	ENST00000268489.5	-	9	8519	c.7847G>A	c.(7846-7848)aGg>aAg	p.R2616K	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1702K	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2616					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCCAGCTTCCTCTTGAGAGT	0.547																																																0													207	212	210					16																	72828734		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7847G>A	chr16.hg19:g.72828734C>T	ENSP00000268489:p.Arg2616Lys		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362208	0.41902	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74737	-0.87;-0.86	5.64	5.64	0.86602	.	0.000000	0.56097	D	0.000033	D	0.84014	0.5379	L	0.56199	1.76	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	D	0.83807	0.0239	10	0.54805	T	0.06	.	19.683	0.95971	0.0:1.0:0.0:0.0	.	2616	Q15911	ZFHX3_HUMAN	K	2616;1702	ENSP00000268489:R2616K;ENSP00000438926:R1702K	ENSP00000268489:R2616K	R	-	2	0	ZFHX3	71386235	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.653000	0.90120	0.561000	0.74099	AGG		0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72828734	C	T	72828734	3	4	454	1	0	0	0	0	1	0	0	0	17639	681	24	2	3272	2	ZFHX3	16	72828734	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	24443117	72828734	17526019	67	24861											
GEMIN4	50628	hgsc.bcm.edu	37	17	649344	649344	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr17:649344C>G	ENST00000319004.5	-	2	2057	c.1939G>C	c.(1939-1941)Gag>Cag	p.E647Q	GEMIN4_ENST00000576778.1_Missense_Mutation_p.E636Q	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	647					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCGTCTGGCTCAAGAAGAGCA	0.488																																																0													64	67	66					17																	649344		1893	4118	6011	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1939G>C	chr17.hg19:g.649344C>G	ENSP00000321706:p.Glu647Gln		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	hg19	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	C	4.186	0.033188	0.08101	.	.	ENSG00000179409	ENST00000319004	T	0.05786	3.39	5.57	4.6	0.57074	.	0.448686	0.24490	N	0.038075	T	0.05456	0.0144	L	0.41236	1.265	0.22378	N	0.999157	B	0.21225	0.053	B	0.17722	0.019	T	0.35076	-0.9803	10	0.30078	T	0.28	-12.805	5.0874	0.14691	0.1555:0.6319:0.1337:0.0789	.	647	P57678	GEMI4_HUMAN	Q	647	ENSP00000321706:E647Q	ENSP00000321706:E647Q	E	-	1	0	GEMIN4	596094	0.185000	0.23213	0.959000	0.39883	0.826000	0.46750	0.956000	0.29202	1.358000	0.45922	0.655000	0.94253	GAG		0.488	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		G	649344	C	G	649344	3	3	454	1	0	0	0	0	1	0	0	0	6332	835	29	4	1241	4	GEMIN4	17	649344	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08		649344	80545866	68	24862											
C17orf48	56985	hgsc.bcm.edu	37	17	10608559	10608559	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr17:10608559C>T	ENST00000379774.4	+	2	407	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	ADPRM_ENST00000609540.1_Missense_Mutation_p.H106Y	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	106							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										TCCAGTTCATCATACATGGGG	0.353																																																0													88	82	84					17																	10608559		2203	4300	6503	SO:0001583	missense	56985			BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 48"	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.316C>T	chr17.hg19:g.10608559C>T	ENSP00000369099:p.His106Tyr		A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	hg19	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565615	0.86439	.	.	ENSG00000170222	ENST00000379774	D	0.84660	-1.88	5.64	5.64	0.86602	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.89949	0.6863	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83803	0.0237	10	0.02654	T	1	-8.9416	19.5025	0.95103	0.0:1.0:0.0:0.0	.	106	Q3LIE5	ADPRM_HUMAN	Y	106	ENSP00000369099:H106Y	ENSP00000369099:H106Y	H	+	1	0	C17orf48	10549284	1.000000	0.71417	0.964000	0.40570	0.988000	0.76386	6.987000	0.76206	2.937000	0.99478	0.650000	0.86243	CAT		0.353	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		T	10608559	C	T	10608559	3	4	454	1	0	0	0	0	1	0	0	0	1861	826	29	2	318	2	C17orf48	17	10608559	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	9959215	10608559	70586651	69	24863											
MYO18A	399687	hgsc.bcm.edu	37	17	27430634	27430634	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr17:27430634A>T	ENST00000527372.1	-	21	3670	c.3490T>A	c.(3490-3492)Tgc>Agc	p.C1164S	MYO18A_ENST00000533112.1_Missense_Mutation_p.C1164S|MYO18A_ENST00000531253.1_Missense_Mutation_p.C1164S|MYO18A_ENST00000354329.4_Missense_Mutation_p.C1164S	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1164	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGGCCCATGCAGCAGCTGCTC	0.657																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											0													47	54	52					17																	27430634		2074	4207	6281	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3490T>A	chr17.hg19:g.27430634A>T	ENSP00000437073:p.Cys1164Ser		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	hg19	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887500	0.33348	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.44	3.22	0.36961	Myosin head, motor domain (2);	0.313479	0.39544	N	0.001332	T	0.74680	0.3748	N	0.25890	0.77	0.37666	D	0.922943	B;B;B;B;B	0.22346	0.006;0.009;0.009;0.009;0.068	B;B;B;B;B	0.21708	0.003;0.015;0.009;0.009;0.036	T	0.66392	-0.5935	10	0.32370	T	0.25	.	3.1069	0.06345	0.6565:0.0:0.1571:0.1864	.	833;776;1164;1164;1164	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	S	1164;1164;1164;1164;1164;60;60;776	ENSP00000346291:C1164S;ENSP00000435932:C1164S;ENSP00000434228:C1164S;ENSP00000437073:C1164S	ENSP00000346291:C1164S	C	-	1	0	MYO18A	24454760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.734000	0.47368	0.878000	0.35920	0.459000	0.35465	TGC		0.657	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		T	27430634	A	T	27430634	3	4	454	1	0	0	0	0	1	0	0	0	10067	188	7	5	2762	5	MYO18A	17	27430634	Missense_Mutation	SNP	A	TCGA-BQ-5878-01A-11D-1589-08	16822075	27430634	53764576	70	24864											
KCNJ16	3773	hgsc.bcm.edu	37	17	68129360	68129360	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr17:68129360G>A	ENST00000589377.1	+	2	1295	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	KCNJ16_ENST00000586462.1_Missense_Mutation_p.A417T|KCNJ16_ENST00000283936.1_Missense_Mutation_p.A378T|KCNJ16_ENST00000585558.1_Missense_Mutation_p.A413T|KCNJ16_ENST00000392670.1_Missense_Mutation_p.A378T|KCNJ16_ENST00000392671.1_Missense_Mutation_p.A378T	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	378					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TAGTGCAGTTGCCATTGTCAG	0.498																																																0													109	92	98					17																	68129360		2203	4300	6503	SO:0001583	missense	3773			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.1132G>A	chr17.hg19:g.68129360G>A	ENSP00000465967:p.Ala378Thr			Missense_Mutation	SNP	ENST00000589377.1	hg19	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058214	0.36277	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.89270	-2.49;-2.49;-2.49	5.8	5.8	0.92144	.	1.758860	0.02733	N	0.115373	D	0.84584	0.5504	L	0.27053	0.805	0.36349	D	0.859948	B;B	0.29909	0.261;0.01	B;B	0.21546	0.035;0.007	T	0.60910	-0.7169	9	.	.	.	.	13.9035	0.63819	0.0735:0.0:0.9265:0.0	.	378;378	A8K434;Q9NPI9	.;IRK16_HUMAN	T	378	ENSP00000283936:A378T;ENSP00000376439:A378T;ENSP00000376438:A378T	.	A	+	1	0	KCNJ16	65640955	0.999000	0.42202	0.952000	0.39060	0.454000	0.32378	6.073000	0.71245	2.736000	0.93811	0.591000	0.81541	GCC		0.498	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		A	68129360	G	A	68129360	3	1	454	1	0	0	0	0	1	0	0	0	8052	1319	46	2	1134	2	KCNJ16	17	68129360	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	40698726	68129360	13065850	71	24865											
YES1	7525	hgsc.bcm.edu	37	18	756694	756694	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr18:756694G>A	ENST00000584307.1	-	2	304	c.134C>T	c.(133-135)tCt>tTt	p.S45F	YES1_ENST00000577961.1_Missense_Mutation_p.S50F|YES1_ENST00000577611.1_5'UTR|YES1_ENST00000314574.4_Missense_Mutation_p.S45F			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	45					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CTTTGCTGAAGATGACGGACA	0.468																																																0													248	208	222					18																	756694		2203	4300	6503	SO:0001583	missense	7525			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.134C>T	chr18.hg19:g.756694G>A	ENSP00000462468:p.Ser45Phe		A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	hg19	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	G	6.428	0.447146	0.12223	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.75050	-0.9	4.66	4.66	0.58398	.	0.822602	0.09557	U	0.786109	T	0.66297	0.2775	L	0.29908	0.895	0.45366	D	0.998353	B	0.02656	0.0	B	0.08055	0.003	T	0.53851	-0.8380	10	0.16420	T	0.52	.	17.9046	0.88914	0.0:0.0:1.0:0.0	.	45	P07947	YES_HUMAN	F	45	ENSP00000324740:S45F	ENSP00000324740:S45F	S	-	2	0	YES1	746694	1.000000	0.71417	0.017000	0.16124	0.934000	0.57294	6.760000	0.74939	2.299000	0.77371	0.313000	0.20887	TCT		0.468	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		A	756694	G	A	756694	3	1	454	1	0	0	0	0	1	0	0	0	17479	942	33	2	1541	2	YES1	18	756694	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08		756694	77320554	72	24866											
DSC3	1825	hgsc.bcm.edu	37	18	28576918	28576918	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr18:28576918delT	ENST00000360428.4	-	15	2412	c.2332delA	c.(2332-2334)accfs	p.T778fs	DSC3_ENST00000434452.1_Frame_Shift_Del_p.T778fs	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	778					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATTTCAATGGTTTCCTGCCCT	0.502																																																0													119	96	104					18																	28576918		2203	4300	6503	SO:0001589	frameshift_variant	1825			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2332delA	chr18.hg19:g.28576918delT	ENSP00000353608:p.Thr778fs		A6NN35|Q14200|Q9HAZ9	Frame_Shift_Del	DEL	ENST00000360428.4	hg19	CCDS32810.1																																																																																				0.502	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		-	28576918	T	-	28576918	7	5	454	1	0	1	0	1	0	0	0	0	4769	1725	60	0	397	0	DSC3	18	28576918	Frame_Shift_Del	DEL	T	TCGA-BQ-5878-01A-11D-1589-08	27820224	28576918	49500330	73	24867											
NEDD4L	23327	hgsc.bcm.edu	37	18	55996285	55996285	+	Silent	SNP	C	C	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr18:55996285C>A	ENST00000400345.3	+	10	1022	c.739C>A	c.(739-741)Cgg>Agg	p.R247R	NEDD4L_ENST00000357895.5_Silent_p.R239R|NEDD4L_ENST00000256830.9_Silent_p.R247R|NEDD4L_ENST00000435432.2_Silent_p.R126R|NEDD4L_ENST00000586263.1_Silent_p.R239R|NEDD4L_ENST00000456986.1_Silent_p.R126R|NEDD4L_ENST00000431212.2_Silent_p.R126R|NEDD4L_ENST00000356462.6_Silent_p.R247R|NEDD4L_ENST00000456173.2_Silent_p.R126R|NEDD4L_ENST00000382850.4_Silent_p.R247R|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_Silent_p.R126R	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	247					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GGCAGCACACCGGCGCTTCCG	0.597																																																0													38	45	43					18																	55996285		2100	4227	6327	SO:0001819	synonymous_variant	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.739C>A	chr18.hg19:g.55996285C>A			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	ENST00000400345.3	hg19	CCDS45872.1																																																																																				0.597	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			A	55996285	C	A	55996285	2	1	454	1	0	0	0	0	0	0	0	1	10313	643	23	4		4	NEDD4L	18	55996285	Silent	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	27419367	55996285	22080963	74	24868											
MUC16	94025	hgsc.bcm.edu	37	19	9087506	9087506	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:9087506C>T	ENST00000397910.4	-	1	4512	c.4309G>A	c.(4309-4311)Gat>Aat	p.D1437N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1437	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGGGACATCAGAAGTTAGT	0.512																																																0													118	114	116					19																	9087506		1966	4148	6114	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4309G>A	chr19.hg19:g.9087506C>T	ENSP00000381008:p.Asp1437Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.824	-0.037221	0.07497	.	.	ENSG00000181143	ENST00000397910	T	0.02944	4.1	1.0	-0.286	0.12862	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.26845	0.161	B	0.18263	0.021	T	0.44190	-0.9344	8	0.87932	D	0	.	3.1617	0.06522	0.0:0.617:0.0:0.383	.	1437	B5ME49	.	N	1437	ENSP00000381008:D1437N	ENSP00000381008:D1437N	D	-	1	0	MUC16	8948506	0.001000	0.12720	0.002000	0.10522	0.042000	0.13812	-0.052000	0.11865	-0.065000	0.13021	0.305000	0.20034	GAT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9087506	C	T	9087506	3	4	454	1	0	0	0	0	1	0	0	0	9975	826	29	2	39550	2	MUC16	19	9087506	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08		9087506	50041477	75	24869											
ECSIT	51295	hgsc.bcm.edu	37	19	11618829	11618829	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:11618829T>C	ENST00000270517.7	-	5	908	c.773A>G	c.(772-774)gAt>gGt	p.D258G	ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000592312.1_Missense_Mutation_p.D142G|ECSIT_ENST00000252440.7_Missense_Mutation_p.D258G|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000588998.1_Missense_Mutation_p.D44G|ECSIT_ENST00000591104.1_Missense_Mutation_p.D258G|ZNF653_ENST00000293771.5_5'Flank|CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000417981.2_Missense_Mutation_p.D44G	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	258					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CTGGGGGGGATCTGCTGCACC	0.577																																																0													99	108	105					19																	11618829		2203	4300	6503	SO:0001583	missense	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.773A>G	chr19.hg19:g.11618829T>C	ENSP00000270517:p.Asp258Gly		E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	hg19	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.901102	0.52227	.	.	ENSG00000130159	ENST00000270517;ENST00000417981;ENST00000252440	T;T;T	0.80480	-1.38;1.22;-1.38	3.81	2.67	0.31697	.	0.528567	0.19970	N	0.102018	T	0.77343	0.4116	M	0.73598	2.24	0.09310	N	1	P;P;P	0.44139	0.827;0.557;0.485	B;B;B	0.41510	0.359;0.178;0.248	T	0.71646	-0.4530	10	0.66056	D	0.02	-5.0804	6.5677	0.22521	0.0:0.0:0.2477:0.7523	.	44;258;258	E9PAN9;Q9BQ95-2;Q9BQ95	.;.;ECSIT_HUMAN	G	258;44;258	ENSP00000270517:D258G;ENSP00000412712:D44G;ENSP00000252440:D258G	ENSP00000252440:D258G	D	-	2	0	ECSIT	11479829	0.181000	0.23161	0.007000	0.13788	0.266000	0.26442	2.000000	0.40816	1.671000	0.50874	0.459000	0.35465	GAT		0.577	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		C	11618829	T	C	11618829	3	2	454	1	0	0	0	0	1	0	0	0	4902	1435	50	3	538	3	ECSIT	19	11618829	Missense_Mutation	SNP	T	TCGA-BQ-5878-01A-11D-1589-08	2531323	11618829	47510154	76	24870											
HOOK2	29911	hgsc.bcm.edu	37	19	12875721	12875721	+	Silent	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:12875721C>T	ENST00000397668.3	-	20	1807	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	HOOK2_ENST00000264827.5_Silent_p.R576R|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	578	Required for localization to the centrosome and induction of aggresome formation.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCTCCTCGATCCGCCGGGCTG	0.632											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													67	73	71					19																	12875721		2018	4169	6187	SO:0001819	synonymous_variant	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1734G>A	chr19.hg19:g.12875721C>T		683	O60562	Silent	SNP	ENST00000397668.3	hg19	CCDS42508.1																																																																																				0.632	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		T	12875721	C	T	12875721	2	4	454	1	0	0	0	0	0	0	0	1	7285	842	30	2		2	HOOK2	19	12875721	Silent	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	1256892	12875721	46253262	77	24871											
NOTCH3	4854	hgsc.bcm.edu	37	19	15288375	15288375	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:15288375T>C	ENST00000263388.2	-	24	4439	c.4364A>G	c.(4363-4365)aAc>aGc	p.N1455S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1455					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCAGTCGAAGTTGTCGTAGAG	0.657																																																0													14	13	13					19																	15288375		2111	4180	6291	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4364A>G	chr19.hg19:g.15288375T>C	ENSP00000263388:p.Asn1455Ser		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	hg19	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816967	0.70912	.	.	ENSG00000074181	ENST00000263388	T	0.63913	-0.07	4.66	4.66	0.58398	Notch domain (5);	.	.	.	.	T	0.56746	0.2006	L	0.47016	1.485	0.45883	D	0.998736	B	0.31968	0.349	B	0.33799	0.17	T	0.60255	-0.7299	9	0.56958	D	0.05	.	13.0613	0.59008	0.0:0.0:0.0:1.0	.	1455	Q9UM47	NOTC3_HUMAN	S	1455	ENSP00000263388:N1455S	ENSP00000263388:N1455S	N	-	2	0	NOTCH3	15149375	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	1.398000	0.34554	1.728000	0.51552	0.260000	0.18958	AAC		0.657	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		C	15288375	T	C	15288375	3	2	454	1	0	0	0	0	1	0	0	0	10552	1725	60	3	2641	3	NOTCH3	19	15288375	Missense_Mutation	SNP	T	TCGA-BQ-5878-01A-11D-1589-08	2412654	15288375	43840608	78	24872											
UNC13A	23025	hgsc.bcm.edu	37	19	17750273	17750273	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:17750273A>T	ENST00000519716.2	-	24	2917	c.2918T>A	c.(2917-2919)cTc>cAc	p.L973H	UNC13A_ENST00000552293.1_Missense_Mutation_p.L973H|UNC13A_ENST00000550896.1_Missense_Mutation_p.L971H|UNC13A_ENST00000428389.2_Missense_Mutation_p.L1061H|UNC13A_ENST00000551649.1_Missense_Mutation_p.L973H|UNC13A_ENST00000252773.7_Missense_Mutation_p.L973H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	973					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GATGCTGGTGAGAAGGTCCAC	0.532																																																0													79	78	79					19																	17750273		1967	4144	6111	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2918T>A	chr19.hg19:g.17750273A>T	ENSP00000429562:p.Leu973His		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.975812	0.74360	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.87729	-2.28;-2.29;-2.27;-2.12;-2.16;-2.29	3.95	3.95	0.45737	.	0.179999	0.36303	U	0.002675	D	0.92619	0.7655	M	0.80183	2.485	0.52501	D	0.999952	D	0.89917	1.0	D	0.83275	0.996	D	0.93099	0.6507	10	0.87932	D	0	-16.3271	11.1266	0.48322	1.0:0.0:0.0:0.0	.	973	Q9UPW8	UN13A_HUMAN	H	973;1061;973;973;973;971	ENSP00000429562:L973H;ENSP00000400409:L1061H;ENSP00000252773:L973H;ENSP00000447236:L973H;ENSP00000447572:L973H;ENSP00000446831:L971H	ENSP00000252773:L973H	L	-	2	0	UNC13A	17611273	1.000000	0.71417	0.892000	0.35008	0.984000	0.73092	9.105000	0.94246	1.568000	0.49683	0.248000	0.18094	CTC		0.532	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		T	17750273	A	T	17750273	3	4	454	1	0	0	0	0	1	0	0	0	16989	304	11	5	2273	5	UNC13A	19	17750273	Missense_Mutation	SNP	A	TCGA-BQ-5878-01A-11D-1589-08	2461898	17750273	41378710	79	24873											
CYP2A13	1553	hgsc.bcm.edu	37	19	41596079	41596079	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:41596079C>G	ENST00000330436.3	+	3	471	c.471C>G	c.(469-471)atC>atG	p.I157M		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	157					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GCTTCCTCATCGACGCCCTCC	0.687																																																0													31	32	31					19																	41596079		2202	4300	6502	SO:0001583	missense	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.471C>G	chr19.hg19:g.41596079C>G	ENSP00000332679:p.Ile157Met		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	hg19	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	11.11	1.542221	0.27563	.	.	ENSG00000197838	ENST00000330436	T	0.01379	4.96	3.43	-3.64	0.04515	.	0.840898	0.10215	U	0.701698	T	0.01353	0.0044	L	0.45285	1.41	0.09310	N	1	B	0.25667	0.131	B	0.30029	0.11	T	0.47623	-0.9103	10	0.49607	T	0.09	.	1.1459	0.01775	0.1312:0.246:0.2879:0.3349	.	157	Q16696	CP2AD_HUMAN	M	157	ENSP00000332679:I157M	ENSP00000332679:I157M	I	+	3	3	CYP2A13	46287919	0.000000	0.05858	0.053000	0.19242	0.011000	0.07611	-2.752000	0.00791	-0.321000	0.08627	0.305000	0.20034	ATC		0.687	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		G	41596079	C	G	41596079	3	3	454	1	0	0	0	0	1	0	0	0	4163	874	31	4	481	4	CYP2A13	19	41596079	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	23845806	41596079	17532904	80	24874											
DMWD	1762	hgsc.bcm.edu	37	19	46289265	46289265	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:46289265G>A	ENST00000270223.6	-	3	1534	c.1489C>T	c.(1489-1491)Ccg>Tcg	p.P497S	DMWD_ENST00000377735.3_Missense_Mutation_p.P497S|DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	497										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCTGGGTGCGGGAGACTGTTG	0.731																																																0													6	7	7					19																	46289265		1846	3685	5531	SO:0001583	missense	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1489C>T	chr19.hg19:g.46289265G>A	ENSP00000270223:p.Pro497Ser			Missense_Mutation	SNP	ENST00000270223.6	hg19	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533457	0.64972	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.59906	0.25;0.23	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	L	0.49126	1.545	0.58432	D	0.99999	D;D;D	0.71674	0.997;0.998;0.997	P;D;P	0.64776	0.888;0.929;0.888	T	0.58549	-0.7617	10	0.09084	T	0.74	-15.5092	14.4428	0.67330	0.0:0.0:1.0:0.0	.	182;497;497	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	S	497	ENSP00000366964:P497S;ENSP00000270223:P497S	ENSP00000270223:P497S	P	-	1	0	DMWD	50981105	1.000000	0.71417	0.939000	0.37840	0.356000	0.29392	9.141000	0.94612	2.365000	0.80145	0.462000	0.41574	CCG		0.731	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		A	46289265	G	A	46289265	3	1	454	1	0	0	0	0	1	0	0	0	4595	1232	43	2	547	2	DMWD	19	46289265	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	4693186	46289265	12839718	81	24875											
HRC	3270	hgsc.bcm.edu	37	19	49658341	49658341	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:49658341C>T	ENST00000252825.4	-	1	340	c.154G>A	c.(154-156)Gag>Aag	p.E52K	TRPM4_ENST00000355712.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.E52K|TRPM4_ENST00000252826.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	52					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GCTGATGCCTCCTCGGAGAGC	0.597																																					Melanoma(37;75 1097 24567 25669 30645)											0													168	147	154					19																	49658341		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.154G>A	chr19.hg19:g.49658341C>T	ENSP00000252825:p.Glu52Lys		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	hg19	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921389	0.73213	.	.	ENSG00000130528	ENST00000252825	T	0.06687	3.27	3.26	3.26	0.37387	.	.	.	.	.	T	0.08802	0.0218	L	0.47716	1.5	0.09310	N	0.999997	B	0.33694	0.421	B	0.24701	0.055	T	0.16188	-1.0411	9	0.66056	D	0.02	-4.7962	12.7671	0.57399	0.0:1.0:0.0:0.0	.	52	P23327	SRCH_HUMAN	K	52	ENSP00000252825:E52K	ENSP00000252825:E52K	E	-	1	0	HRC	54350153	0.554000	0.26522	0.204000	0.23530	0.009000	0.06853	1.738000	0.38207	2.104000	0.64026	0.561000	0.74099	GAG		0.597	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		T	49658341	C	T	49658341	3	4	454	1	0	0	0	0	1	0	0	0	7354	864	30	2	1969	2	HRC	19	49658341	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	3369076	49658341	9470642	82	24876											
NAPSA	9476	hgsc.bcm.edu	37	19	50862007	50862007	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:50862007delA	ENST00000253719.2	-	9	1274	c.1066delT	c.(1066-1068)tccfs	p.S356fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	356					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TGGAAACCGGACAAGCAGAGG	0.632																																																0													24	26	25					19																	50862007		2200	4299	6499	SO:0001589	frameshift_variant	9476			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1066delT	chr19.hg19:g.50862007delA	ENSP00000253719:p.Ser356fs		Q8WWD9	Frame_Shift_Del	DEL	ENST00000253719.2	hg19	CCDS12794.1																																																																																				0.632	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		-	50862007	A	-	50862007	7	5	454	1	0	1	0	1	0	0	0	0	10168	275	10	0	200	0	NAPSA	19	50862007	Frame_Shift_Del	DEL	A	TCGA-BQ-5878-01A-11D-1589-08	1203666	50862007	8266976	83	24877											
FPR2	2358	hgsc.bcm.edu	37	19	52272650	52272650	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:52272650G>C	ENST00000598776.1	+	2	1511	c.739G>C	c.(739-741)Gtg>Ctg	p.V247L	FPR2_ENST00000340023.6_Missense_Mutation_p.V247L|FPR2_ENST00000598953.1_Missense_Mutation_p.V247L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	247					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CACTGCTGTGGTGGCTTCTTT	0.483																																																0													162	129	140					19																	52272650		2203	4300	6503	SO:0001583	missense	2358			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.739G>C	chr19.hg19:g.52272650G>C	ENSP00000468897:p.Val247Leu		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	hg19	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432553	0.62844	.	.	ENSG00000171049	ENST00000340023	T	0.72051	-0.62	3.79	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.083720	0.47455	U	0.000226	T	0.81659	0.4869	M	0.85777	2.775	0.31492	N	0.66581	D	0.55800	0.973	D	0.64506	0.926	T	0.81373	-0.0962	10	0.54805	T	0.06	.	8.5694	0.33561	0.1273:0.0:0.8727:0.0	.	247	P25090	FPR2_HUMAN	L	247	ENSP00000340191:V247L	ENSP00000340191:V247L	V	+	1	0	FPR2	56964462	0.210000	0.23517	0.680000	0.29994	0.976000	0.68499	1.340000	0.33896	0.909000	0.36697	0.484000	0.47621	GTG		0.483	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		C	52272650	G	C	52272650	3	2	454	1	0	0	0	0	1	0	0	0	6041	1261	44	4	741	4	FPR2	19	52272650	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	1410643	52272650	6856333	84	24878											
LAIR2	3904	hgsc.bcm.edu	37	19	55019129	55019129	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:55019129T>A	ENST00000301202.2	+	3	216	c.94T>A	c.(94-96)Tcg>Acg	p.S32T	LAIR2_ENST00000351841.2_Missense_Mutation_p.S32T	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	32	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACCCTCCATCTCGGCTGAGCC	0.577																																																0													116	129	124					19																	55019129		2203	4300	6503	SO:0001583	missense	3904			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.94T>A	chr19.hg19:g.55019129T>A	ENSP00000301202:p.Ser32Thr		Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	hg19	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.675150	0.29783	.	.	ENSG00000167618	ENST00000412608;ENST00000452094;ENST00000301202;ENST00000351841	T;T;T	0.23147	1.92;2.69;2.69	3.39	0.919	0.19392	Immunoglobulin-like fold (1);	2.380980	0.01840	N	0.035242	T	0.39064	0.1064	M	0.69358	2.11	0.09310	N	1	P;P;P	0.48589	0.911;0.873;0.912	P;B;P	0.50708	0.648;0.275;0.597	T	0.16512	-1.0400	10	0.72032	D	0.01	.	5.5099	0.16874	0.4585:0.0:0.0:0.5414	.	26;32;32	C9JFQ0;Q6ISS4-2;Q6ISS4	.;.;LAIR2_HUMAN	T	26;14;32;32	ENSP00000390729:S26T;ENSP00000301202:S32T;ENSP00000301203:S32T	ENSP00000301202:S32T	S	+	1	0	LAIR2	59710941	0.002000	0.14202	0.041000	0.18516	0.736000	0.42039	-0.423000	0.07034	0.452000	0.26830	0.260000	0.18958	TCG		0.577	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			A	55019129	T	A	55019129	3	1	454	1	0	0	0	0	1	0	0	0	8605	1551	54	5	104	5	LAIR2	19	55019129	Missense_Mutation	SNP	T	TCGA-BQ-5878-01A-11D-1589-08	2746479	55019129	4109854	85	24879											
PROCR	10544	hgsc.bcm.edu	37	20	33762617	33762617	+	Silent	SNP	A	A	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr20:33762617A>T	ENST00000216968.4	+	2	265	c.183A>T	c.(181-183)ccA>ccT	p.P61P	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	61					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TGGAAGGCCCAGACACCAACA	0.622																																																0													93	70	78					20																	33762617		2203	4300	6503	SO:0001819	synonymous_variant	10544			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"CD molecules"	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.183A>T	chr20.hg19:g.33762617A>T			B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Silent	SNP	ENST00000216968.4	hg19	CCDS13248.1																																																																																				0.622	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			T	33762617	A	T	33762617	2	4	454	1	0	0	0	0	0	0	0	1	12552	175	7	5		5	PROCR	20	33762617	Silent	SNP	A	TCGA-BQ-5878-01A-11D-1589-08		33762617	29262903	86	24880											
SLC13A3	64849	hgsc.bcm.edu	37	20	45204227	45204227	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr20:45204227C>A	ENST00000279027.4	-	10	1335	c.1317G>T	c.(1315-1317)atG>atT	p.M439I	SLC13A3_ENST00000413164.2_Missense_Mutation_p.M389I|SLC13A3_ENST00000495082.1_Missense_Mutation_p.M392I|SLC13A3_ENST00000472148.1_Missense_Mutation_p.M357I|SLC13A3_ENST00000290317.5_Missense_Mutation_p.M392I|SLC13A3_ENST00000435032.1_Intron|SLC13A3_ENST00000396360.1_Missense_Mutation_p.M357I	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	439					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGCCTTTGGCCATGGCGAAGC	0.632																																																0													63	49	54					20																	45204227		2203	4300	6503	SO:0001583	missense	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1317G>T	chr20.hg19:g.45204227C>A	ENSP00000279027:p.Met439Ile		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	hg19	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386648	0.82902	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915	T;T;T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95;3.95;3.95	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	N	0.25031	0.7	0.80722	D	1	P;P;P;P	0.46020	0.775;0.843;0.746;0.871	P;P;P;P	0.49799	0.507;0.544;0.487;0.622	T	0.36866	-0.9730	10	0.72032	D	0.01	-34.8403	17.6296	0.88103	0.0:1.0:0.0:0.0	.	389;357;392;439	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	I	392;357;439;357;389;392;392	ENSP00000290317:M392I;ENSP00000379648:M357I;ENSP00000279027:M439I;ENSP00000420177:M357I;ENSP00000415852:M389I;ENSP00000419621:M392I;ENSP00000417784:M392I	ENSP00000279027:M439I	M	-	3	0	SLC13A3	44637634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.897000	0.69831	2.399000	0.81585	0.655000	0.94253	ATG		0.632	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			A	45204227	C	A	45204227	3	1	454	1	0	0	0	0	1	0	0	0	14399	594	21	4	507	4	SLC13A3	20	45204227	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	11441610	45204227	17821293	87	24881											
ZNF831	128611	hgsc.bcm.edu	37	20	57766279	57766279	+	Missense_Mutation	SNP	G	G	A	rs375833789		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr20:57766279G>A	ENST00000371030.2	+	1	205	c.205G>A	c.(205-207)Ggg>Agg	p.G69R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	69	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGCCTCCCGGGGGCCTCCA	0.706																																																0								G	ARG/GLY	1,3705		0,1,1852	9	11	10		205	5.6	0.9	20		10	0,8092		0,0,4046	no	missense	ZNF831	NM_178457.1	125	0,1,5898	AA,AG,GG		0.0,0.027,0.0085	probably-damaging	69/1678	57766279	1,11797	1853	4046	5899	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.205G>A	chr20.hg19:g.57766279G>A	ENSP00000360069:p.Gly69Arg		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011024	0.75046	2.7E-4	0.0	ENSG00000124203	ENST00000371030	T	0.05081	3.5	5.55	5.55	0.83447	.	.	.	.	.	T	0.16854	0.0405	L	0.27053	0.805	0.33846	D	0.632	D	0.89917	1.0	D	0.91635	0.999	T	0.05146	-1.0903	9	0.87932	D	0	-18.5525	18.4859	0.90828	0.0:0.0:1.0:0.0	.	69	Q5JPB2	ZN831_HUMAN	R	69	ENSP00000360069:G69R	ENSP00000360069:G69R	G	+	1	0	ZNF831	57199674	0.950000	0.32346	0.917000	0.36280	0.949000	0.60115	2.282000	0.43461	2.608000	0.88229	0.462000	0.41574	GGG		0.706	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57766279	G	A	57766279	3	1	454	1	0	0	0	0	1	0	0	0	18190	1116	39	1	207	1	ZNF831	20	57766279	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08	12562052	57766279	5259241	88	24882											
LIPI	149998	hgsc.bcm.edu	37	21	15554081	15554081	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr21:15554081T>C	ENST00000536861.1	-	4	640	c.641A>G	c.(640-642)aAt>aGt	p.N214S	LIPI_ENST00000344577.2_Missense_Mutation_p.N235S			Q6XZB0	LIPI_HUMAN	lipase, member I	214					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTGTTACCATTGGAGTCAGA	0.398																																																0													76	71	73					21																	15554081		2203	4300	6503	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.641A>G	chr21.hg19:g.15554081T>C	ENSP00000440381:p.Asn214Ser		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	hg19		.	.	.	.	.	.	.	.	.	.	T	9.157	1.017856	0.19355	.	.	ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981	D;D	0.90069	-2.61;-2.61	5.46	4.31	0.51392	.	0.306919	0.38548	N	0.001658	T	0.77177	0.4092	N	0.13235	0.315	0.28263	N	0.924755	B;B	0.18741	0.03;0.03	B;B	0.21151	0.033;0.02	T	0.60172	-0.7315	10	0.08381	T	0.77	.	11.4777	0.50308	0.0:0.0716:0.0:0.9284	.	214;235	G1JSG6;Q6XZB0-2	.;.	S	235;214;109	ENSP00000343331:N235S;ENSP00000440381:N214S	ENSP00000343331:N235S	N	-	2	0	LIPI	14475952	1.000000	0.71417	0.643000	0.29450	0.055000	0.15305	5.357000	0.66058	1.007000	0.39238	0.533000	0.62120	AAT		0.398	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		C	15554081	T	C	15554081	3	2	454	1	0	0	0	0	1	0	0	0	8827	1493	52	3	769	3	LIPI	21	15554081	Missense_Mutation	SNP	T	TCGA-BQ-5878-01A-11D-1589-08		15554081	32575814	89	24883											
DEPDC5	9681	hgsc.bcm.edu	37	22	32301997	32301997	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr22:32301997T>G	ENST00000382111.2	+	40	4463	c.4403T>G	c.(4402-4404)cTg>cGg	p.L1468R	DEPDC5_ENST00000266091.3_Silent_p.S1466S|DEPDC5_ENST00000400246.1_Missense_Mutation_p.L1468R|DEPDC5_ENST00000539165.1_Silent_p.S305S|DEPDC5_ENST00000535622.1_Silent_p.S1388S|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400248.2_Silent_p.S1457S|DEPDC5_ENST00000400249.2_Silent_p.S1457S|DEPDC5_ENST00000382112.3_Silent_p.S1479S			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATAAATATTCTGCCTCTGCTT	0.488																																																0													89	85	86					22																	32301997		1943	4137	6080	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382111.2:c.4403T>G	chr22.hg19:g.32301997T>G	ENSP00000371545:p.Leu1468Arg		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382111.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.81|11.81	1.751165|1.751165	0.31046|0.31046	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000400246;ENST00000382111	.|T;T	.|0.29655	.|1.56;1.56	5.01|5.01	-1.17|-1.17	0.09648|0.09648	.|.	.|.	.|.	.|.	.|.	T|T	0.29389|0.29389	0.0732|0.0732	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.29761|0.29761	-1.0001|-1.0001	4|6	.|0.72032	.|D	.|0.01	.|.	0.9017|0.9017	0.01275|0.01275	0.3175:0.289:0.1114:0.2822|0.3175:0.289:0.1114:0.2822	.|.	.|.	.|.	.|.	G|R	864|1468	.|ENSP00000383105:L1468R;ENSP00000371545:L1468R	.|ENSP00000371545:L1468R	C|L	+|+	1|2	0|0	DEPDC5|DEPDC5	30631997|30631997	0.011000|0.011000	0.17503|0.17503	0.969000|0.969000	0.41365|0.41365	0.990000|0.990000	0.78478|0.78478	-1.295000|-1.295000	0.02764|0.02764	-0.538000|-0.538000	0.06281|0.06281	0.459000|0.459000	0.35465|0.35465	TGC|CTG		0.488	DEPDC5-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000129085.1	NM_014662		G	32301997	T	G	32301997	3	3	454	1	0	0	0	0	1	0	0	0	4444	1567	55	5	4617	5	DEPDC5	22	32301997	Missense_Mutation	SNP	T	TCGA-BQ-5878-01A-11D-1589-08		32301997	19002569	90	24884											
PLXNB2	23654	hgsc.bcm.edu	37	22	50719301	50719302	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr22:50719301_50719302insT	ENST00000449103.1	-	24	4004_4005	c.3864_3865insA	c.(3862-3867)ccctccfs	p.S1289fs	PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.S1289fs|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1289					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTCCTTGGAGGGCAGGAAGA	0.629																																																0																																										SO:0001589	frameshift_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3864_3865insA	chr22.hg19:g.50719301_50719302insT	ENSP00000409171:p.Ser1289fs		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Ins	INS	ENST00000449103.1	hg19	CCDS43035.1																																																																																				0.629	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		T	50719302	-	T	50719301	7	5	454	1	0	1	1	0	0	0	0	0	12126	304	11	0	1707	0	PLXNB2	22	50719301	Frame_Shift_Ins	INS	-	TCGA-BQ-5878-01A-11D-1589-08	18417304	50719301	585265	91	24885											
GPKOW	27238	hgsc.bcm.edu	37	X	48979068	48979068	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chrX:48979068G>A	ENST00000156109.5	-	2	313	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	79						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GGCTGCCTGCGATGGCCATTC	0.637																																																0													37	39	38					X																	48979068		2203	4300	6503	SO:0001583	missense	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.235C>T	chrX.hg19:g.48979068G>A	ENSP00000156109:p.Arg79Cys		Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	hg19	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571866	0.28003	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.73	0.739	0.18324	.	0.440958	0.26038	N	0.026709	T	0.28366	0.0701	L	0.51422	1.61	0.09310	N	0.999999	D	0.65815	0.995	B	0.44315	0.446	T	0.18209	-1.0344	9	0.59425	D	0.04	-3.2051	3.9276	0.09270	0.4817:0.1829:0.3353:0.0	.	79	Q92917	GPKOW_HUMAN	C	79	.	ENSP00000156109:R79C	R	-	1	0	GPKOW	48866012	0.070000	0.21116	0.006000	0.13384	0.580000	0.36256	2.429000	0.44758	0.398000	0.25338	-0.300000	0.09419	CGC		0.637	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		A	48979068	G	A	48979068	3	1	454	1	0	0	0	0	1	0	0	0	6615	1058	37	1	1235	1	GPKOW	23	48979068	Missense_Mutation	SNP	G	TCGA-BQ-5878-01A-11D-1589-08		48979068	106291492	92	24886											
ESX1	80712	hgsc.bcm.edu	37	X	103499100	103499100	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chrX:103499100C>T	ENST00000372588.4	-	2	324	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	81					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGCTCCGGCTCGTGGCCGCCG	0.662																																					Pancreas(200;1705 2227 25194 28471 45274)											0													62	70	67					X																	103499100		2200	4276	6476	SO:0001583	missense	80712			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.241G>A	chrX.hg19:g.103499100C>T	ENSP00000361669:p.Glu81Lys		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	hg19	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	c	9.690	1.151579	0.21371	.	.	ENSG00000123576	ENST00000372588	D	0.91521	-2.86	3.13	-6.25	0.02039	.	.	.	.	.	T	0.77011	0.4068	N	0.24115	0.695	0.09310	N	1	P	0.35011	0.48	B	0.18561	0.022	T	0.63902	-0.6532	9	0.13853	T	0.58	-2.0978	12.3476	0.55130	0.0:0.1335:0.6842:0.1822	.	81	Q8N693	ESX1_HUMAN	K	81	ENSP00000361669:E81K	ENSP00000361669:E81K	E	-	1	0	ESX1	103385756	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.657000	0.05335	-2.111000	0.00836	-0.560000	0.04181	GAG		0.662	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		T	103499100	C	T	103499100	3	4	454	1	0	0	0	0	1	0	0	0	5265	893	31	1	991	1	ESX1	23	103499100	Missense_Mutation	SNP	C	TCGA-BQ-5878-01A-11D-1589-08	54520032	103499100	51771460	93	24887											
ELTD1	64123	hgsc.bcm.edu	37	1	79386001	79386001	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr1:79386001G>A	ENST00000370742.3	-	10	1391	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	443					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATGCATATGGCAAGACAAAT	0.313																																																0													103	97	99					1																	79386001		1812	4078	5890	SO:0001583	missense	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1328C>T	chr1.hg19:g.79386001G>A	ENSP00000359778:p.Ala443Val		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	hg19	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768298	0.49680	.	.	ENSG00000162618	ENST00000370742	T	0.41065	1.01	5.0	5.0	0.66597	GPCR, family 2-like (1);	0.175937	0.50627	D	0.000111	T	0.21921	0.0528	L	0.45422	1.42	0.40567	D	0.981269	B	0.10296	0.003	B	0.23018	0.043	T	0.04537	-1.0944	9	.	.	.	.	14.2963	0.66316	0.0:0.1486:0.8513:0.0	.	443	Q9HBW9	ELTD1_HUMAN	V	443	ENSP00000359778:A443V	.	A	-	2	0	ELTD1	79158589	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.598000	0.67585	2.469000	0.83416	0.650000	0.86243	GCC		0.313	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		A	79386001	G	A	79386001	3	1	455	1	0	0	0	0	1	0	0	0	5086	1203	42	2	768	2	ELTD1	1	79386001	Missense_Mutation	SNP	G	TCGA-BQ-5879-01A-11D-1589-08		79386001	169864620	1	24888											
LMNA	4000	hgsc.bcm.edu	37	1	156105085	156105085	+	Silent	SNP	C	C	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr1:156105085C>T	ENST00000368300.4	+	5	1130	c.918C>T	c.(916-918)ctC>ctT	p.L306L	LMNA_ENST00000368301.2_Silent_p.L306L|LMNA_ENST00000392353.3_Silent_p.L225L|LMNA_ENST00000361308.4_Silent_p.L306L|LMNA_ENST00000368299.3_Silent_p.L306L|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Silent_p.L207L|LMNA_ENST00000448611.2_Silent_p.L194L|LMNA_ENST00000368297.1_Silent_p.L225L|LMNA_ENST00000347559.2_Silent_p.L306L	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	306	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CTGCCCAGCTCAGCCAGCTCC	0.662									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																							0													25	28	27					1																	156105085		2202	4299	6501	SO:0001819	synonymous_variant	4000	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.918C>T	chr1.hg19:g.156105085C>T			B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	hg19	CCDS1129.1																																																																																				0.662	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		T	156105085	C	T	156105085	2	4	455	1	0	0	0	0	0	0	0	1	8850	813	29	2		2	LMNA	1	156105085	Silent	SNP	C	TCGA-BQ-5879-01A-11D-1589-08	76719084	156105085	93145536	2	24889											
SLC5A6	8884	hgsc.bcm.edu	37	2	27427384	27427384	+	Missense_Mutation	SNP	G	G	A	rs199587675		TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr2:27427384G>A	ENST00000310574.3	-	9	1423	c.950C>T	c.(949-951)gCg>gTg	p.A317V	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Missense_Mutation_p.A317V	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	317					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.A317V(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CTGGTAATACGCGAACATGAC	0.597																																																1	Substitution - Missense(1)	large_intestine(1)											99	95	96					2																	27427384		2203	4300	6503	SO:0001583	missense	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.950C>T	chr2.hg19:g.27427384G>A	ENSP00000310208:p.Ala317Val		B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	hg19	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513536	0.27123	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.88586	-2.4;-2.4	4.93	2.04	0.26737	.	0.604283	0.16756	N	0.200821	D	0.85733	0.5765	M	0.67569	2.06	0.39947	D	0.974481	B	0.33345	0.409	B	0.34242	0.178	T	0.82370	-0.0491	10	0.52906	T	0.07	.	7.2906	0.26364	0.1706:0.1441:0.6852:0.0	.	317	Q9Y289	SC5A6_HUMAN	V	317	ENSP00000310208:A317V;ENSP00000384853:A317V	ENSP00000310208:A317V	A	-	2	0	SLC5A6	27280888	0.999000	0.42202	0.226000	0.23910	0.215000	0.24574	3.539000	0.53604	0.585000	0.29608	0.655000	0.94253	GCG		0.597	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		A	27427384	G	A	27427384	3	1	455	1	0	0	0	0	1	0	0	0	14675	1087	38	1	993	1	SLC5A6	2	27427384	Missense_Mutation	SNP	G	TCGA-BQ-5879-01A-11D-1589-08		27427384	215771989	3	24890											
ACTR1B	10120	hgsc.bcm.edu	37	2	98275011	98275014	+	Frame_Shift_Del	DEL	GAGT	GAGT	-	rs200965492		TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	GAGT	GAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr2:98275011_98275014delGAGT	ENST00000289228.5	-	6	749_752	c.533_536delACTC	c.(532-537)cactccfs	p.HS178fs		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	178					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CCGCATGATGGAGTGAGGCATGGC	0.603																																																0																																										SO:0001589	frameshift_variant	10120			X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.533_536delACTC	chr2.hg19:g.98275011_98275014delGAGT	ENSP00000289228:p.His178fs		D3DVH2|Q53SK5|Q9BRB7	Frame_Shift_Del	DEL	ENST00000289228.5	hg19	CCDS2033.1																																																																																				0.603	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		-	98275014	GAGT	-	98275011	7	5	455	1	0	1	0	1	0	0	0	0	210	1174	41	0	618	0	ACTR1B	2	98275011	Frame_Shift_Del	DEL	GAGT	TCGA-BQ-5879-01A-11D-1589-08	70847627	98275011	144924362	4	24891											
RAB3GAP1	22930	hgsc.bcm.edu	37	2	135815628	135815628	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr2:135815628G>A	ENST00000264158.8	+	3	165	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.G41E|RAB3GAP1_ENST00000539493.1_5'UTR|RAB3GAP1_ENST00000425393.1_Missense_Mutation_p.G41E	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	41					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAACTGATTGGAAACTCTTTG	0.383																																																0													91	86	88					2																	135815628		2203	4300	6503	SO:0001583	missense	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.122G>A	chr2.hg19:g.135815628G>A	ENSP00000264158:p.Gly41Glu		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	hg19	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554169	0.86231	.	.	ENSG00000115839	ENST00000264158;ENST00000442034;ENST00000425393	T;T	0.48201	0.84;0.82	5.62	5.62	0.85841	.	0.174050	0.52532	D	0.000076	T	0.66268	0.2772	M	0.69823	2.125	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.927;0.968	T	0.61466	-0.7057	10	0.25751	T	0.34	-20.0075	16.5774	0.84705	0.0:0.0:1.0:0.0	.	41;41	C9J837;Q15042	.;RB3GP_HUMAN	E	41	ENSP00000264158:G41E;ENSP00000411418:G41E	ENSP00000264158:G41E	G	+	2	0	RAB3GAP1	135532098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.478000	0.81082	2.642000	0.89623	0.655000	0.94253	GGA		0.383	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		A	135815628	G	A	135815628	3	1	455	1	0	0	0	0	1	0	0	0	12941	1174	41	2	132	2	RAB3GAP1	2	135815628	Missense_Mutation	SNP	G	TCGA-BQ-5879-01A-11D-1589-08	37540617	135815628	107383745	5	24892											
TTN	7273	hgsc.bcm.edu	37	2	179429062	179429062	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr2:179429062G>T	ENST00000591111.1	-	276	77098	c.76874C>A	c.(76873-76875)gCa>gAa	p.A25625E	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A27266E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A18326E|TTN_ENST00000460472.2_Missense_Mutation_p.A18201E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A24698E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A18393E|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25625	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATCTCTTGCAGTAATGGC	0.393																																																0													106	104	105					2																	179429062		1912	4119	6031	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76874C>A	chr2.hg19:g.179429062G>T	ENSP00000465570:p.Ala25625Glu		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.43	2.830143	0.50845	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.07	6.07	0.98685	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79287	0.4420	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.81406	-0.0947	9	0.87932	D	0	.	20.6452	0.99591	0.0:0.0:1.0:0.0	.	18201;18326;18393;25625	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	24698;18201;18393;18326;18199	ENSP00000343764:A24698E;ENSP00000434586:A18201E;ENSP00000340554:A18393E;ENSP00000352154:A18326E	ENSP00000340554:A18393E	A	-	2	0	TTN	179137308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.030000	0.88816	2.885000	0.99019	0.650000	0.86243	GCA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179429062	G	T	179429062	3	4	455	1	0	0	0	0	1	0	0	0	16740	1319	46	4	26330	4	TTN	2	179429062	Missense_Mutation	SNP	G	TCGA-BQ-5879-01A-11D-1589-08	43613434	179429062	63770311	6	24893											
FYTTD1	84248	hgsc.bcm.edu	37	3	197501076	197501076	+	Silent	SNP	T	T	C			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr3:197501076T>C	ENST00000241502.4	+	6	873	c.651T>C	c.(649-651)acT>acC	p.T217T	FYTTD1_ENST00000415708.2_Silent_p.T191T|FYTTD1_ENST00000428395.2_Silent_p.T126T|FYTTD1_ENST00000424384.2_Silent_p.T150T	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	217					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CAAAGAGAACTCGTCAGTAAG	0.378																																																0													171	168	169					3																	197501076		2203	4300	6503	SO:0001819	synonymous_variant	84248			AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"UAP56-interacting factor"					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.651T>C	chr3.hg19:g.197501076T>C			A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Silent	SNP	ENST00000241502.4	hg19	CCDS3329.1																																																																																				0.378	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288		C	197501076	T	C	197501076	2	2	455	1	0	0	0	0	0	0	0	1	6129	1538	54	3		3	FYTTD1	3	197501076	Silent	SNP	T	TCGA-BQ-5879-01A-11D-1589-08		197501076	521354	7	24894											
PRSS12	8492	hgsc.bcm.edu	37	4	119273492	119273492	+	Silent	SNP	A	A	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr4:119273492A>T	ENST00000296498.3	-	1	666	c.384T>A	c.(382-384)gcT>gcA	p.A128A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	128	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CTCGCAGCTGAGCCCAGCTCG	0.706																																																0													9	10	10					4																	119273492		2194	4283	6477	SO:0001819	synonymous_variant	8492			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.384T>A	chr4.hg19:g.119273492A>T			Q9UP16	Silent	SNP	ENST00000296498.3	hg19	CCDS3709.1																																																																																				0.706	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			T	119273492	A	T	119273492	2	4	455	1	0	0	0	0	0	0	0	1	12620	291	11	5		5	PRSS12	4	119273492	Silent	SNP	A	TCGA-BQ-5879-01A-11D-1589-08		119273492	71880784	8	24895											
SLC12A7	10723	hgsc.bcm.edu	37	5	1094290	1094290	+	Silent	SNP	C	C	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr5:1094290C>T	ENST00000264930.5	-	2	241	c.198G>A	c.(196-198)ggG>ggA	p.G66G		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	66					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCATGTTCTTCCCTTCAAAGA	0.468																																																0													128	120	123					5																	1094290		2203	4300	6503	SO:0001819	synonymous_variant	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.198G>A	chr5.hg19:g.1094290C>T			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	hg19	CCDS34129.1																																																																																				0.468	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		T	1094290	C	T	1094290	2	4	455	1	0	0	0	0	0	0	0	1	14394	842	30	2		2	SLC12A7	5	1094290	Silent	SNP	C	TCGA-BQ-5879-01A-11D-1589-08		1094290	179820970	9	24896											
POP1	10940	hgsc.bcm.edu	37	8	99142345	99142345	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr8:99142345C>T	ENST00000401707.2	+	5	707	c.626C>T	c.(625-627)gCc>gTc	p.A209V	POP1_ENST00000349693.3_Missense_Mutation_p.A209V	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	209					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.A209V(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATCTGGCACGCCAAGCGGTTT	0.488																																																1	Substitution - Missense(1)	lung(1)											75	72	73					8																	99142345		2203	4300	6503	SO:0001583	missense	10940			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.626C>T	chr8.hg19:g.99142345C>T	ENSP00000385787:p.Ala209Val		A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	hg19	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	C	36	5.647996	0.96714	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.61980	0.06;0.06	5.81	5.81	0.92471	Ribonuclease P/MRP, subunit POP1 (1);	0.139825	0.47093	D	0.000247	T	0.76905	0.4053	M	0.66378	2.025	0.80722	D	1	D	0.56287	0.975	D	0.65323	0.934	T	0.75004	-0.3470	9	.	.	.	-3.0517	17.8794	0.88835	0.0:1.0:0.0:0.0	.	209	Q99575	POP1_HUMAN	V	209	ENSP00000385787:A209V;ENSP00000339529:A209V	.	A	+	2	0	POP1	99211521	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.731000	0.84895	2.746000	0.94184	0.591000	0.81541	GCC		0.488	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		T	99142345	C	T	99142345	3	4	455	1	0	0	0	0	1	0	0	0	12253	739	26	2	640	2	POP1	8	99142345	Missense_Mutation	SNP	C	TCGA-BQ-5879-01A-11D-1589-08		99142345	47221677	10	24897											
RDX	5962	hgsc.bcm.edu	37	11	110124813	110124813	+	Missense_Mutation	SNP	G	G	T	rs370869036		TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr11:110124813G>T	ENST00000343115.4	-	9	1136	c.817C>A	c.(817-819)Cgt>Agt	p.R273S	RDX_ENST00000528900.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.R273S|RDX_ENST00000528498.1_Missense_Mutation_p.R273S|RDX_ENST00000544551.1_Missense_Mutation_p.R137S|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	273	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		ATTCTCAGACGAGGTGCATAA	0.338																																					Esophageal Squamous(55;25 1062 11040 28755 44273)											0													81	72	75					11																	110124813		2201	4298	6499	SO:0001583	missense	5962			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.817C>A	chr11.hg19:g.110124813G>T	ENSP00000342830:p.Arg273Ser		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	hg19	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599569	0.87055	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.72	5.72	0.89469	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.86969	0.6061	L	0.54908	1.71	0.80722	D	1	P;D;B	0.64830	0.501;0.994;0.026	B;P;B	0.62298	0.206;0.9;0.089	D	0.85377	0.1117	10	0.41790	T	0.15	.	19.8831	0.96905	0.0:0.0:1.0:0.0	.	137;273;273	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	S	273;273;273;273;137	ENSP00000432112:R273S;ENSP00000384136:R273S;ENSP00000342830:R273S;ENSP00000445826:R137S	ENSP00000342830:R273S	R	-	1	0	RDX	109630023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.799000	0.99117	2.705000	0.92388	0.655000	0.94253	CGT		0.338	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		T	110124813	G	T	110124813	3	4	455	1	0	0	0	0	1	0	0	0	13204	1058	37	4	958	4	RDX	11	110124813	Missense_Mutation	SNP	G	TCGA-BQ-5879-01A-11D-1589-08		110124813	24881703	11	24898											
NELL2	4753	hgsc.bcm.edu	37	12	45097517	45097517	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr12:45097517T>C	ENST00000429094.2	-	12	1814	c.1310A>G	c.(1309-1311)tAc>tGc	p.Y437C	NELL2_ENST00000437801.2_Missense_Mutation_p.Y487C|NELL2_ENST00000395487.2_Missense_Mutation_p.Y436C|NELL2_ENST00000452445.2_Missense_Mutation_p.Y437C|NELL2_ENST00000551601.1_Missense_Mutation_p.Y436C|NELL2_ENST00000549027.1_Missense_Mutation_p.Y436C|NELL2_ENST00000333837.4_Missense_Mutation_p.Y460C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	437	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACCTTCACAGTAGGCATTATC	0.403																																																0													97	89	92					12																	45097517		2203	4300	6503	SO:0001583	missense	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1310A>G	chr12.hg19:g.45097517T>C	ENSP00000390680:p.Tyr437Cys		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	hg19	CCDS8746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.07|19.07	3.756435|3.756435	0.69648|0.69648	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000550313|ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	.|D;D;T;D;D;D;D	.|0.95622	.|-1.56;-1.56;-0.63;-1.56;-1.56;-2.26;-3.76	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97396|0.97396	0.9148|0.9148	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0	.|D;D;D;D;D;D	.|0.80764	.|0.956;0.984;0.986;0.994;0.968;0.993	D|D	0.97098|0.97098	0.9795|0.9795	5|10	.|0.36615	.|T	.|0.2	-30.8204|-30.8204	15.7975|15.7975	0.78423|0.78423	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|460;487;436;437;437;436	.|B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.|.;.;.;.;NELL2_HUMAN;.	A|C	181|436;437;436;437;436;460;487;436	.|ENSP00000378866:Y436C;ENSP00000390680:Y437C;ENSP00000449332:Y436C;ENSP00000394612:Y437C;ENSP00000447927:Y436C;ENSP00000327988:Y460C;ENSP00000416341:Y487C	.|ENSP00000327988:Y460C	T|Y	-|-	1|2	0|0	NELL2|NELL2	43383784|43383784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.089000|7.089000	0.76909|0.76909	2.135000|2.135000	0.66039|0.66039	0.528000|0.528000	0.53228|0.53228	ACT|TAC		0.403	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		C	45097517	T	C	45097517	3	2	455	1	0	0	0	0	1	0	0	0	10336	1638	57	3	1176	3	NELL2	12	45097517	Missense_Mutation	SNP	T	TCGA-BQ-5879-01A-11D-1589-08		45097517	88754378	12	24899											
C14orf43	91748	hgsc.bcm.edu	37	14	74196477	74196477	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr14:74196477T>C	ENST00000286523.5	-	4	2743	c.1961A>G	c.(1960-1962)tAc>tGc	p.Y654C	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.Y654C	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	654					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGGCGGCGTGTAGGGAGGTAG	0.627																																																0													69	63	65					14																	74196477		2203	4300	6503	SO:0001583	missense	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1961A>G	chr14.hg19:g.74196477T>C	ENSP00000286523:p.Tyr654Cys		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	hg19	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429427	0.83776	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.51071	0.72;0.72;0.72;0.74	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000018	T	0.70404	0.3220	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75608	-0.3259	10	0.87932	D	0	-12.2873	15.1835	0.72978	0.0:0.0:0.0:1.0	.	654;654	A0PJD3;Q6PJG2	.;CN043_HUMAN	C	654	ENSP00000377634:Y654C;ENSP00000286523:Y654C;ENSP00000407767:Y654C;ENSP00000402380:Y654C	ENSP00000286523:Y654C	Y	-	2	0	C14orf43	73266230	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	8.032000	0.88838	1.977000	0.57605	0.391000	0.25812	TAC		0.627	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		C	74196477	T	C	74196477	3	2	455	1	0	0	0	0	1	0	0	0	1776	1638	57	3	1212	3	C14orf43	14	74196477	Missense_Mutation	SNP	T	TCGA-BQ-5879-01A-11D-1589-08		74196477	33153063	13	24900											
RYR3	6263	hgsc.bcm.edu	37	15	33905537	33905537	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr15:33905537G>T	ENST00000389232.4	+	19	2388	c.2318G>T	c.(2317-2319)gGg>gTg	p.G773V	RYR3_ENST00000415757.3_Missense_Mutation_p.G773V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	773	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		AACACAGACGGGCTCTTCTTC	0.552																																																0													50	54	53					15																	33905537		2107	4260	6367	SO:0001583	missense	6263				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.2318G>T	chr15.hg19:g.33905537G>T	ENSP00000373884:p.Gly773Val		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821891	0.90873	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.70869	-0.52;-0.52	5.4	5.4	0.78164	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.80944	0.4721	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.96	T	0.79305	-0.1858	10	0.45353	T	0.12	.	19.4159	0.94700	0.0:0.0:1.0:0.0	.	773;773	Q15413-2;Q15413	.;RYR3_HUMAN	V	773	ENSP00000373884:G773V;ENSP00000399610:G773V	ENSP00000354735:G773V	G	+	2	0	RYR3	31692829	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.715000	0.84713	2.821000	0.97095	0.650000	0.86243	GGG		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33905537	G	T	33905537	3	4	455	1	0	0	0	0	1	0	0	0	13776	1232	43	4	2392	4	RYR3	15	33905537	Missense_Mutation	SNP	G	TCGA-BQ-5879-01A-11D-1589-08		33905537	68625855	14	24901											
NUP88	4927	hgsc.bcm.edu	37	17	5314095	5314095	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr17:5314095C>T	ENST00000573584.1	-	4	1117	c.608G>A	c.(607-609)cGt>cAt	p.R203H		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	203					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CTGCGGCTCACGTAGTGAGTA	0.388																																																0													107	114	112					17																	5314095		2203	4300	6503	SO:0001583	missense	4927			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.608G>A	chr17.hg19:g.5314095C>T	ENSP00000458954:p.Arg203His		D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	hg19	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757883	0.31137	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	5.47	3.46	0.39613	.	0.364516	0.30126	N	0.010346	T	0.36936	0.0985	L	0.44542	1.39	0.28618	N	0.908315	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.28776	-1.0033	9	0.45353	T	0.12	-6.739	8.1438	0.31100	0.0:0.6984:0.0:0.3016	.	203;72;203	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	H	203;72	.	ENSP00000225696:R203H	R	-	2	0	NUP88	5254819	0.997000	0.39634	0.947000	0.38551	0.620000	0.37586	1.229000	0.32600	0.794000	0.33899	0.561000	0.74099	CGT		0.388	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		T	5314095	C	T	5314095	3	4	455	1	0	0	0	0	1	0	0	0	10773	536	19	1	1673	1	NUP88	17	5314095	Missense_Mutation	SNP	C	TCGA-BQ-5879-01A-11D-1589-08		5314095	75881115	15	24902											
MYH3	4621	hgsc.bcm.edu	37	17	10554908	10554908	+	Silent	SNP	G	G	A	rs577513442		TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr17:10554908G>A	ENST00000583535.1	-	5	513	c.426C>T	c.(424-426)ggC>ggT	p.G142G	MYH3_ENST00000226209.7_Silent_p.G142G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	142	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGCCTCGGTAGCCTTCCACCA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		14358	0.001		0.0	False		,,,				2504	0.0															0													137	137	137					17																	10554908		2203	4300	6503	SO:0001819	synonymous_variant	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.426C>T	chr17.hg19:g.10554908G>A			Q15492	Silent	SNP	ENST00000583535.1	hg19	CCDS11157.1																																																																																				0.557	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		A	10554908	G	A	10554908	2	1	455	1	0	0	0	0	0	0	0	1	10038	958	34	2		2	MYH3	17	10554908	Silent	SNP	G	TCGA-BQ-5879-01A-11D-1589-08	5240813	10554908	70640302	16	24903											
GH1	2688	hgsc.bcm.edu	37	17	61995168	61995168	+	Silent	SNP	G	G	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr17:61995168G>T	ENST00000323322.5	-	4	450	c.408C>A	c.(406-408)gtC>gtA	p.V136V	GH1_ENST00000458650.2_Silent_p.V121V|GH1_ENST00000342364.4_Intron|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Silent_p.V96V	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	136			V -> I (in dbSNP:rs5388). {ECO:0000269|PubMed:12655557, ECO:0000269|PubMed:15001589}.		bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGAGGTCATAGACGTTGCTGT	0.607																																																0													68	68	68					17																	61995168		2203	4300	6503	SO:0001819	synonymous_variant	2688			M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"Endogenous ligands"	4261	protein-coding gene	gene with protein product	"pituitary growth hormone", "somatotropin"	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.408C>A	chr17.hg19:g.61995168G>T			A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	ENST00000323322.5	hg19	CCDS11653.1																																																																																				0.607	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		T	61995168	G	T	61995168	2	4	455	1	0	0	0	0	0	0	0	1	6369	929	33	4		4	GH1	17	61995168	Silent	SNP	G	TCGA-BQ-5879-01A-11D-1589-08	51440260	61995168	19200042	17	24904											
LSM14A	26065	hgsc.bcm.edu	37	19	34710448	34710449	+	Frame_Shift_Del	DEL	AG	AG	-	rs372366966		TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr19:34710448_34710449delAG	ENST00000433627.5	+	7	1009_1010	c.934_935delAG	c.(934-936)agafs	p.R312fs	LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R271fs|LSM14A_ENST00000544216.3_Frame_Shift_Del_p.R312fs	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	312	DFDF. {ECO:0000255|PROSITE- ProRule:PRU00845}.				cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.R312K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AGAGATTGACAGAGAGTTTCAT	0.327																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	26065			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.934_935delAG	chr19.hg19:g.34710452_34710453delAG	ENSP00000413964:p.Arg312fs		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Frame_Shift_Del	DEL	ENST00000433627.5	hg19	CCDS46040.1																																																																																				0.327	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		-	34710449	AG	-	34710448	7	5	455	1	0	1	0	1	0	0	0	0	9056	180	7	0	960	0	LSM14A	19	34710448	Frame_Shift_Del	DEL	AG	TCGA-BQ-5879-01A-11D-1589-08		34710448	24418535	18	24905											
RYR1	6261	hgsc.bcm.edu	37	19	38948197	38948197	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr19:38948197G>T	ENST00000359596.3	+	17	1852	c.1852G>T	c.(1852-1854)Gat>Tat	p.D618Y	RYR1_ENST00000360985.3_Missense_Mutation_p.D618Y|RYR1_ENST00000355481.4_Missense_Mutation_p.D618Y			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	618	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTCCAACCAAGATCTTATTAC	0.522																																																0													341	275	297					19																	38948197		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1852G>T	chr19.hg19:g.38948197G>T	ENSP00000352608:p.Asp618Tyr		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521791	0.44866	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97089	-4.24;-4.24;-4.24	3.76	3.76	0.43208	Intracellular calcium-release channel (1);B30.2/SPRY domain (1);	0.075267	0.49916	U	0.000125	D	0.95912	0.8669	L	0.36672	1.1	0.42899	D	0.99422	D;D	0.64830	0.994;0.98	P;P	0.61722	0.862;0.893	D	0.94764	0.7939	10	0.87932	D	0	.	5.1222	0.14865	0.2768:0.0:0.7232:0.0	.	618;618	P21817-2;P21817	.;RYR1_HUMAN	Y	618	ENSP00000352608:D618Y;ENSP00000347667:D618Y;ENSP00000354254:D618Y	ENSP00000347667:D618Y	D	+	1	0	RYR1	43640037	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.680000	0.54641	2.113000	0.64589	0.555000	0.69702	GAT		0.522	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38948197	G	T	38948197	3	4	455	1	0	0	0	0	1	0	0	0	13774	942	33	4	1918	4	RYR1	19	38948197	Missense_Mutation	SNP	G	TCGA-BQ-5879-01A-11D-1589-08	4237749	38948197	20180786	19	24906											
ZNF175	7728	hgsc.bcm.edu	37	19	52091521	52091521	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr19:52091521T>C	ENST00000262259.2	+	5	2295	c.1937T>C	c.(1936-1938)cTt>cCt	p.L646P	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	646					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TATGAATGCCTTGACTGTGGG	0.443																																																0													86	84	85					19																	52091521		2203	4300	6503	SO:0001583	missense	7728			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1937T>C	chr19.hg19:g.52091521T>C	ENSP00000262259:p.Leu646Pro		A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	hg19	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	T	1.034	-0.680825	0.03353	.	.	ENSG00000105497	ENST00000262259	T	0.10763	2.84	2.14	-2.05	0.07321	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.00707	-1.245	0.09310	N	1	B	0.28324	0.207	B	0.29663	0.105	T	0.37009	-0.9724	9	0.48119	T	0.1	.	0.6964	0.00900	0.1625:0.18:0.2558:0.4017	.	646	Q9Y473	ZN175_HUMAN	P	646	ENSP00000262259:L646P	ENSP00000262259:L646P	L	+	2	0	ZNF175	56783333	0.000000	0.05858	0.066000	0.19879	0.247000	0.25773	-3.014000	0.00646	-0.395000	0.07715	-1.142000	0.01873	CTT		0.443	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		C	52091521	T	C	52091521	3	2	455	1	0	0	0	0	1	0	0	0	17750	1609	56	3	1951	3	ZNF175	19	52091521	Missense_Mutation	SNP	T	TCGA-BQ-5879-01A-11D-1589-08	13143324	52091521	7037462	20	24907											
PTPRA	5786	hgsc.bcm.edu	37	20	2998529	2998529	+	Silent	SNP	C	C	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr20:2998529C>T	ENST00000216877.6	+	12	1384	c.984C>T	c.(982-984)gtC>gtT	p.V328V	PTPRA_ENST00000425918.2_Silent_p.V348V|PTPRA_ENST00000358719.4_Silent_p.V193V|PTPRA_ENST00000399903.2_Silent_p.V337V|PTPRA_ENST00000318266.5_Silent_p.V328V|PTPRA_ENST00000356147.3_Silent_p.V328V|PTPRA_ENST00000380393.3_Silent_p.V337V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	337	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCACCATCGTCATGGTTACCA	0.433																																																0													114	105	108					20																	2998529		2203	4300	6503	SO:0001819	synonymous_variant	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.984C>T	chr20.hg19:g.2998529C>T			A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	ENST00000216877.6	hg19	CCDS13039.1																																																																																				0.433	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			T	2998529	C	T	2998529	2	4	455	1	0	0	0	0	0	0	0	1	12801	813	29	2		2	PTPRA	20	2998529	Silent	SNP	C	TCGA-BQ-5879-01A-11D-1589-08		2998529	60026991	21	24908											
SSX1	6756	hgsc.bcm.edu	37	X	48123289	48123289	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chrX:48123289G>A	ENST00000376919.3	+	6	539	c.403G>A	c.(403-405)Gat>Aat	p.D135N		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						CCCACAAAACGATGGGAAACA	0.423			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)		Dom	yes		X	Xp11.23-p11.22	6756	"synovial sarcoma, X breakpoint 1"		M	0													153	141	145					X																	48123289		2203	4299	6502	SO:0001583	missense	6756			BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"cancer/testis antigen family 5, member 1"	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.403G>A	chrX.hg19:g.48123289G>A	ENSP00000366118:p.Asp135Asn		A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	hg19	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	0.021	-1.430282	0.01117	.	.	ENSG00000126752	ENST00000376919	T	0.07327	3.2	2.1	1.21	0.21127	.	1.694760	0.03640	N	0.239416	T	0.04318	0.0119	L	0.38175	1.15	0.09310	N	1	P	0.47545	0.897	B	0.29524	0.103	T	0.32903	-0.9889	10	0.02654	T	1	.	4.011	0.09623	0.2273:0.0:0.7727:0.0	.	135	Q16384	SSX1_HUMAN	N	135	ENSP00000366118:D135N	ENSP00000366118:D135N	D	+	1	0	SSX1	48008233	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.159000	0.10056	0.336000	0.23639	0.380000	0.24917	GAT		0.423	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		A	48123289	G	A	48123289	3	1	455	1	0	0	0	0	1	0	0	0	15208	1058	37	1	421	1	SSX1	23	48123289	Missense_Mutation	SNP	G	TCGA-BQ-5879-01A-11D-1589-08		48123289	107147271	22	24909											
USP26	83844	hgsc.bcm.edu	37	X	132160221	132160221	+	Silent	SNP	A	A	C			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chrX:132160221A>C	ENST00000511190.1	-	6	2497	c.2028T>G	c.(2026-2028)ccT>ccG	p.P676P	USP26_ENST00000370832.1_Silent_p.P676P|USP26_ENST00000406273.1_Silent_p.P676P	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	676	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGCTGCTGGCAGGTTTACCTC	0.428																																					NSCLC(104;342 1621 36940 47097 52632)											0													83	79	81					X																	132160221		2203	4299	6502	SO:0001819	synonymous_variant	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2028T>G	chrX.hg19:g.132160221A>C			B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	hg19	CCDS14635.1																																																																																				0.428	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		C	132160221	A	C	132160221	2	2	455	1	0	0	0	0	0	0	0	1	17062	175	7	5		5	USP26	23	132160221	Silent	SNP	A	TCGA-BQ-5879-01A-11D-1589-08	84036932	132160221	23110339	23	24910											
MACF1	23499	hgsc.bcm.edu	37	1	39775962	39775962	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr1:39775962C>A	ENST00000372915.3	+	24	3064	c.2977C>A	c.(2977-2979)Ctt>Att	p.L993I	MACF1_ENST00000564288.1_Missense_Mutation_p.L988I|MACF1_ENST00000539005.1_Missense_Mutation_p.L993I|MACF1_ENST00000317713.7_Missense_Mutation_p.L993I|MACF1_ENST00000545844.1_Missense_Mutation_p.L993I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L993I|MACF1_ENST00000567887.1_Missense_Mutation_p.L1025I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	993					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATGAAGAACCTTCAGGCCCA	0.463																																																0													114	94	101					1																	39775962		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2977C>A	chr1.hg19:g.39775962C>A	ENSP00000362006:p.Leu993Ile		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.013512|4.013512	0.75161|0.75161	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262|ENST00000372925	D;D;D;D;D;D;D|.	0.95035|.	-1.71;-1.73;-1.71;-1.74;-1.62;-3.08;-3.59|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|.	.|.	.|.	.|.	T|T	0.77987|0.77987	0.4213|0.4213	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.524;0.997;1.0|.	B;P;D|.	0.78314|.	0.3;0.839;0.991|.	T|T	0.80953|0.80953	-0.1152|-0.1152	9|5	0.72032|.	D|.	0.01|.	.|.	12.1581|12.1581	0.54089|0.54089	0.0:0.9218:0.0:0.0782|0.0:0.9218:0.0:0.0782	.|.	993;993;958|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	I|H	993;993;993;993;993;951;1142|126	ENSP00000439537:L993I;ENSP00000362006:L993I;ENSP00000354573:L993I;ENSP00000313438:L993I;ENSP00000444364:L993I;ENSP00000435070:L951I;ENSP00000437059:L1142I|.	ENSP00000313438:L993I|.	L|P	+|+	1|2	0|0	MACF1|MACF1	39548549|39548549	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.721000|0.721000	0.41392|0.41392	3.237000|3.237000	0.51344|0.51344	2.430000|2.430000	0.82344|0.82344	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		A	39775962	C	A	39775962	3	1	456	1	0	0	0	0	1	0	0	0	9146	681	24	4	3071	4	MACF1	1	39775962	Missense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08		39775962	209474659	1	24911											
HIVEP3	59269	hgsc.bcm.edu	37	1	41976755	41976755	+	Silent	SNP	G	G	C			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr1:41976755G>C	ENST00000372583.1	-	9	7473	c.6588C>G	c.(6586-6588)ccC>ccG	p.P2196P	HIVEP3_ENST00000372584.1_Silent_p.P2195P|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.P2196P|HIVEP3_ENST00000429157.2_Silent_p.P2195P	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2196					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCCACCGATGGGAATCAAGG	0.667																																																0													101	103	102					1																	41976755		2203	4300	6503	SO:0001819	synonymous_variant	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6588C>G	chr1.hg19:g.41976755G>C			A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	hg19	CCDS463.1																																																																																				0.667	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		C	41976755	G	C	41976755	2	2	456	1	0	0	0	0	0	0	0	1	7190	1335	47	4		4	HIVEP3	1	41976755	Silent	SNP	G	TCGA-BQ-5880-01A-11D-1589-08	2200793	41976755	207273866	2	24912											
NTNG1	22854	hgsc.bcm.edu	37	1	107937850	107937850	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr1:107937850C>A	ENST00000370068.1	+	4	1808	c.962C>A	c.(961-963)aCt>aAt	p.T321N	NTNG1_ENST00000370070.2_Missense_Mutation_p.T321N|NTNG1_ENST00000542803.1_Missense_Mutation_p.T321N|NTNG1_ENST00000370066.1_Missense_Mutation_p.T321N|NTNG1_ENST00000370061.3_Missense_Mutation_p.T321N|NTNG1_ENST00000370072.3_Missense_Mutation_p.T321N|NTNG1_ENST00000370071.2_Missense_Mutation_p.T321N|NTNG1_ENST00000370065.1_Missense_Mutation_p.T321N|NTNG1_ENST00000370074.4_Missense_Mutation_p.T321N|NTNG1_ENST00000370067.1_Missense_Mutation_p.T321N|NTNG1_ENST00000370073.2_Missense_Mutation_p.T321N			Q9Y2I2	NTNG1_HUMAN	netrin G1	321	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGCACAACACTACAGGTCCA	0.493																																																0													203	192	196					1																	107937850		2203	4300	6503	SO:0001583	missense	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.962C>A	chr1.hg19:g.107937850C>A	ENSP00000359085:p.Thr321Asn		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	hg19	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127060	0.94429	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.8	5.8	0.92144	EGF-like, laminin (3);EGF-like region, conserved site (1);	0.000000	0.64402	D	0.000006	D	0.87366	0.6159	H	0.98487	4.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.98;1.0	D;D;D;D;D	0.91635	0.997;0.994;0.999;0.912;0.998	D	0.91580	0.5278	10	0.87932	D	0	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	321;321;321;321;321	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	N	321;321;321;321;321;321;321;321;82;82;321;321;321;321;321;321	ENSP00000359090:T321N;ENSP00000359088:T321N;ENSP00000440561:T321N;ENSP00000359078:T321N;ENSP00000359089:T321N;ENSP00000359087:T321N;ENSP00000359091:T321N;ENSP00000359085:T321N;ENSP00000359084:T321N;ENSP00000359083:T321N;ENSP00000359082:T321N	ENSP00000294649:T321N	T	+	2	0	NTNG1	107739373	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.818000	0.86416	2.751000	0.94390	0.650000	0.86243	ACT		0.493	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		A	107937850	C	A	107937850	3	1	456	1	0	0	0	0	1	0	0	0	10706	565	20	4	972	4	NTNG1	1	107937850	Missense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08	65961095	107937850	141312771	3	24913											
IGSF3	3321	hgsc.bcm.edu	37	1	117131439	117131439	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr1:117131439C>T	ENST00000369486.3	-	8	3082	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	IGSF3_ENST00000369483.1_Missense_Mutation_p.E793K|IGSF3_ENST00000318837.6_Missense_Mutation_p.E793K	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	773	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCGCTGACCTCGGCTCTCTGG	0.627																																																0													29	29	29					1																	117131439		2201	4295	6496	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2317G>A	chr1.hg19:g.117131439C>T	ENSP00000358498:p.Glu773Lys		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	hg19	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152472	0.57259	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64438	-0.1;-0.1;-0.1	3.98	3.01	0.34805	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.410465	0.24846	N	0.035140	T	0.43634	0.1256	M	0.66939	2.045	0.49483	D	0.999798	P;P;P	0.45212	0.604;0.853;0.656	B;B;B	0.38106	0.073;0.265;0.12	T	0.50285	-0.8846	10	0.41790	T	0.15	-28.9037	10.5216	0.44922	0.0:0.6523:0.3476:0.0	.	793;773;793	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	K	773;793;793	ENSP00000358498:E773K;ENSP00000358495:E793K;ENSP00000321184:E793K	ENSP00000321184:E793K	E	-	1	0	IGSF3	116932962	0.956000	0.32656	0.994000	0.49952	0.981000	0.71138	2.102000	0.41796	2.050000	0.60909	0.462000	0.41574	GAG		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117131439	C	T	117131439	3	4	456	1	0	0	0	0	1	0	0	0	7603	893	31	1	1283	1	IGSF3	1	117131439	Missense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08	9193589	117131439	132119182	4	24914											
SELL	6402	hgsc.bcm.edu	37	1	169677647	169677647	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr1:169677647C>T	ENST00000236147.4	-	3	582	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	128	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GATCTCCACGCAGTCCTCCTT	0.488																																																0													99	98	98					1																	169677647		2057	4216	6273	SO:0001583	missense	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.422G>A	chr1.hg19:g.169677647C>T	ENSP00000236147:p.Cys141Tyr		B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	hg19	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592012	0.86953	.	.	ENSG00000188404	ENST00000236147	T	0.61980	0.06	5.71	5.71	0.89125	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.56097	D	0.000024	D	0.84279	0.5437	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88376	0.2998	10	0.87932	D	0	-22.4594	18.4088	0.90543	0.0:1.0:0.0:0.0	.	141;128	Q8WW79;P14151	.;LYAM1_HUMAN	Y	141	ENSP00000236147:C141Y	ENSP00000236147:C141Y	C	-	2	0	SELL	167944271	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	7.487000	0.81328	2.698000	0.92095	0.650000	0.86243	TGC		0.488	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		T	169677647	C	T	169677647	3	4	456	1	0	0	0	0	1	0	0	0	14022	710	25	2	763	2	SELL	1	169677647	Missense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08	52546208	169677647	79572974	5	24915											
CAD	790	hgsc.bcm.edu	37	2	27459639	27459639	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr2:27459639C>A	ENST00000403525.1	+	26	4292	c.4148C>A	c.(4147-4149)gCc>gAc	p.A1383D	CAD_ENST00000264705.4_Missense_Mutation_p.A1446D			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCGGGCCAGCCCCTCCTTTG	0.537																																																0													121	117	118					2																	27459639		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4148C>A	chr2.hg19:g.27459639C>A	ENSP00000384510:p.Ala1383Asp		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.962670|3.962670	0.74016|0.74016	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	D;D|.	0.86694|.	-2.16;-2.16|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Methylglyoxal synthase-like domain (1);|.	0.092996|.	0.85682|.	D|.	0.000000|.	T|T	0.69931|0.69931	0.3166|0.3166	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	P;D|.	0.71674|.	0.919;0.998|.	P;D|.	0.80764|.	0.587;0.994|.	T|T	0.66064|0.66064	-0.6016|-0.6016	10|5	0.12103|.	T|.	0.63|.	-6.9253|-6.9253	18.128|18.128	0.89592|0.89592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1383;1446|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	D|T	1446;1383|98	ENSP00000264705:A1446D;ENSP00000384510:A1383D|.	ENSP00000264705:A1446D|.	A|P	+|+	2|1	0|0	CAD|CAD	27313143|27313143	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.966000|0.966000	0.64601|0.64601	4.299000|4.299000	0.59073|0.59073	2.622000|2.622000	0.88805|0.88805	0.561000|0.561000	0.74099|0.74099	GCC|CCC		0.537	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			A	27459639	C	A	27459639	3	1	456	1	0	0	0	0	1	0	0	0	2567	739	26	4	4443	4	CAD	2	27459639	Missense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08		27459639	215739734	6	24916											
VWA3B	200403	hgsc.bcm.edu	37	2	98744846	98744846	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr2:98744846G>T	ENST00000477737.1	+	6	1051	c.847G>T	c.(847-849)Gat>Tat	p.D283Y	VWA3B_ENST00000435344.1_Missense_Mutation_p.D283Y|VWA3B_ENST00000451075.2_Missense_Mutation_p.D133Y	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	283										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTTCTAAAGGATCTGAGTGC	0.527																																																0													96	96	96					2																	98744846		2002	4172	6174	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.847G>T	chr2.hg19:g.98744846G>T	ENSP00000417955:p.Asp283Tyr		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	hg19	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598190	0.66332	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.15718	7.36;7.36;2.4	5.24	3.39	0.38822	.	0.502898	0.19634	N	0.109604	T	0.36413	0.0966	M	0.65975	2.015	0.26308	N	0.977864	D;D;D	0.76494	0.991;0.999;0.998	P;D;D	0.71656	0.844;0.974;0.946	T	0.07083	-1.0791	10	0.87932	D	0	.	10.7231	0.46052	0.0773:0.1356:0.7872:0.0	.	133;283;283	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	Y	283;283;133	ENSP00000401959:D283Y;ENSP00000417955:D283Y;ENSP00000389463:D133Y	ENSP00000411168:D283Y	D	+	1	0	VWA3B	98111278	1.000000	0.71417	0.950000	0.38849	0.861000	0.49209	2.541000	0.45735	1.324000	0.45282	-0.175000	0.13238	GAT		0.527	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		T	98744846	G	T	98744846	3	4	456	1	0	0	0	0	1	0	0	0	17246	1174	41	4	865	4	VWA3B	2	98744846	Missense_Mutation	SNP	G	TCGA-BQ-5880-01A-11D-1589-08	71285207	98744846	144454527	7	24917											
ACAA1	30	hgsc.bcm.edu	37	3	38167081	38167092	+	In_Frame_Del	DEL	TGAGCAGCGTGA	TGAGCAGCGTGA	-	rs138308587		TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	TGAGCAGCGTGA	TGAGCAGCGTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr3:38167081_38167092delTGAGCAGCGTGA	ENST00000333167.8	-	11	1335_1346	c.1163_1174delTCACGCTGCTCA	c.(1162-1176)atcacgctgctcaat>aat	p.ITLL388del	ACAA1_ENST00000301810.7_In_Frame_Del_p.ITLL295del|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000450296.1_In_Frame_Del_p.ITLL347del	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	388					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TTCAGCTCATTGAGCAGCGTGATGACCTGTCG	0.618																																																0																																										SO:0001651	inframe_deletion	30			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.1163_1174delTCACGCTGCTCA	chr3.hg19:g.38167081_38167092delTGAGCAGCGTGA	ENSP00000333664:p.Ile388_Leu391del		G5E935|Q96CA6	In_Frame_Del	DEL	ENST00000333167.8	hg19	CCDS2673.1																																																																																				0.618	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		-	38167092	TGAGCAGCGTGA	-	38167081	7	5	456	1	0	1	0	1	0	0	0	0	104	1812	63	0	108	0	ACAA1	3	38167081	In_Frame_Del	DEL	TGAGCAGCGTGA	TCGA-BQ-5880-01A-11D-1589-08		38167081	159855349	8	24918											
DNAH1	25981	hgsc.bcm.edu	37	3	52398951	52398951	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr3:52398951A>G	ENST00000420323.2	+	34	5695	c.5434A>G	c.(5434-5436)Atc>Gtc	p.I1812V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1812					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTTCCCACCATCAAGGAGGA	0.612																																																0													86	89	88					3																	52398951		2137	4249	6386	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5434A>G	chr3.hg19:g.52398951A>G	ENSP00000401514:p.Ile1812Val		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	4.931	0.172935	0.09391	.	.	ENSG00000114841	ENST00000420323	T	0.37411	1.2	4.49	4.49	0.54785	.	0.143268	0.31358	N	0.007794	T	0.17704	0.0425	N	0.10945	0.07	0.46774	D	0.999194	B	0.12013	0.005	B	0.09377	0.004	T	0.08597	-1.0714	10	0.02654	T	1	.	13.8185	0.63306	1.0:0.0:0.0:0.0	.	1812	C9JXH6	.	V	1812	ENSP00000401514:I1812V	ENSP00000401514:I1812V	I	+	1	0	DNAH1	52373991	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.138000	0.64795	1.682000	0.51000	0.383000	0.25322	ATC		0.612	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		G	52398951	A	G	52398951	3	3	456	1	0	0	0	0	1	0	0	0	4599	217	8	3	5564	3	DNAH1	3	52398951	Missense_Mutation	SNP	A	TCGA-BQ-5880-01A-11D-1589-08	14231870	52398951	145623479	9	24919											
GBE1	2632	hgsc.bcm.edu	37	3	81698998	81698998	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr3:81698998delA	ENST00000429644.2	-	4	1147	c.504delT	c.(502-504)ggtfs	p.G168fs	GBE1_ENST00000489715.1_Frame_Shift_Del_p.G127fs	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	168					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TCACATTATCACCTTCACGAA	0.348									Glycogen Storage Disease, type IV																																							0													102	101	101					3																	81698998		1874	4119	5993	SO:0001589	frameshift_variant	2632	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.504delT	chr3.hg19:g.81698998delA	ENSP00000410833:p.Gly168fs		B3KWV3|Q96EN0	Frame_Shift_Del	DEL	ENST00000429644.2	hg19	CCDS54612.1																																																																																				0.348	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			-	81698998	A	-	81698998	7	5	456	1	0	1	0	1	0	0	0	0	6272	146	6	0	1656	0	GBE1	3	81698998	Frame_Shift_Del	DEL	A	TCGA-BQ-5880-01A-11D-1589-08	29300047	81698998	116323432	10	24920											
NFXL1	152518	hgsc.bcm.edu	37	4	47901107	47901107	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr4:47901107G>A	ENST00000507489.1	-	7	1033	c.857C>T	c.(856-858)aCa>aTa	p.T286I	NFXL1_ENST00000329043.3_Missense_Mutation_p.T286I|NFXL1_ENST00000381538.3_Missense_Mutation_p.T286I	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	286						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						ACAAGTAGTTGTGACCATCTT	0.388																																																0													85	79	81					4																	47901107		2203	4300	6503	SO:0001583	missense	152518			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.857C>T	chr4.hg19:g.47901107G>A	ENSP00000422037:p.Thr286Ile		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	hg19	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656404	0.29425	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.42131	0.98;0.98;0.98	4.85	4.85	0.62838	.	0.275863	0.32918	N	0.005484	T	0.46151	0.1378	M	0.62723	1.935	0.43126	D	0.994855	P	0.36683	0.565	B	0.37888	0.26	T	0.53201	-0.8472	10	0.56958	D	0.05	-8.3899	17.9625	0.89090	0.0:0.0:1.0:0.0	.	286	Q6ZNB6	NFXL1_HUMAN	I	286	ENSP00000370949:T286I;ENSP00000422037:T286I;ENSP00000333113:T286I	ENSP00000333113:T286I	T	-	2	0	NFXL1	47595864	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	5.916000	0.69981	2.215000	0.71742	0.655000	0.94253	ACA		0.388	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		A	47901107	G	A	47901107	3	1	456	1	0	0	0	0	1	0	0	0	10390	1377	48	2	1946	2	NFXL1	4	47901107	Missense_Mutation	SNP	G	TCGA-BQ-5880-01A-11D-1589-08		47901107	143253169	11	24921											
SLC4A4	8671	hgsc.bcm.edu	37	4	72429512	72429512	+	Silent	SNP	T	T	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr4:72429512T>A	ENST00000264485.5	+	24	3219	c.3102T>A	c.(3100-3102)tcT>tcA	p.S1034S	SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000351898.6_Silent_p.S950S|SLC4A4_ENST00000340595.3_Silent_p.S990S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1034					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTTCACAGTCTGACTGCCCAT	0.363																																																0													124	135	131					4																	72429512		2203	4300	6503	SO:0001819	synonymous_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.3102T>A	chr4.hg19:g.72429512T>A			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	hg19	CCDS43236.1																																																																																				0.363	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		A	72429512	T	A	72429512	2	1	456	1	0	0	0	0	0	0	0	1	14662	1567	55	5		5	SLC4A4	4	72429512	Silent	SNP	T	TCGA-BQ-5880-01A-11D-1589-08	24528405	72429512	118724764	12	24922											
PSD2	84249	hgsc.bcm.edu	37	5	139193812	139193812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr5:139193812delG	ENST00000274710.3	+	4	1084	c.879delG	c.(877-879)gagfs	p.E293fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	293	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTCGGAGGGGTTGGAGC	0.632																																																0													89	81	84					5																	139193812		2203	4300	6503	SO:0001589	frameshift_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.879delG	chr5.hg19:g.139193812delG	ENSP00000274710:p.Glu293fs		D3DQD3|Q8N3J8	Frame_Shift_Del	DEL	ENST00000274710.3	hg19	CCDS4216.1																																																																																				0.632	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		-	139193812	G	-	139193812	7	5	456	1	0	1	0	1	0	0	0	0	12652	991	35	0	889	0	PSD2	5	139193812	Frame_Shift_Del	DEL	G	TCGA-BQ-5880-01A-11D-1589-08		139193812	41721448	13	24923											
SLC26A8	116369	hgsc.bcm.edu	37	6	35949921	35949921	+	Silent	SNP	C	C	T	rs547194034		TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr6:35949921C>T	ENST00000490799.1	-	8	1355	c.1002G>A	c.(1000-1002)acG>acA	p.T334T	SLC26A8_ENST00000355574.2_Silent_p.T334T|SLC26A8_ENST00000394602.2_Silent_p.T229T	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGTCAATAAGCGTCTGGCTGG	0.423													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20134	0.0		0.0	False		,,,				2504	0.0															0													123	113	116					6																	35949921		2203	4300	6503	SO:0001819	synonymous_variant	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1002G>A	chr6.hg19:g.35949921C>T				Silent	SNP	ENST00000490799.1	hg19	CCDS4813.1																																																																																				0.423	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			T	35949921	C	T	35949921	2	4	456	1	0	0	0	0	0	0	0	1	14529	755	27	1		1	SLC26A8	6	35949921	Silent	SNP	C	TCGA-BQ-5880-01A-11D-1589-08		35949921	135165146	14	24924											
RBAK	57786	hgsc.bcm.edu	37	7	5104736	5104736	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr7:5104736A>T	ENST00000353796.3	+	6	1973	c.1649A>T	c.(1648-1650)gAg>gTg	p.E550V	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.E550V	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	550	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TTATTCAATGAGTTGTCATAC	0.393																																																0													63	63	63					7																	5104736		2203	4299	6502	SO:0001583	missense	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1649A>T	chr7.hg19:g.5104736A>T	ENSP00000275423:p.Glu550Val		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	hg19	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.187436	0.38609	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.14516	2.5;2.5	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.572849	0.15837	N	0.242235	T	0.15003	0.0362	L	0.33753	1.03	0.26673	N	0.971686	P	0.42123	0.771	P	0.46885	0.53	T	0.13872	-1.0493	8	.	.	.	.	11.0559	0.47918	1.0:0.0:0.0:0.0	.	550	Q9NYW8	RBAK_HUMAN	V	550	ENSP00000275423:E550V;ENSP00000380120:E550V	.	E	+	2	0	RBAK	5071262	0.000000	0.05858	0.706000	0.30403	0.897000	0.52465	0.042000	0.13949	1.931000	0.55961	0.454000	0.30748	GAG		0.393	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		T	5104736	A	T	5104736	3	4	456	1	0	0	0	0	1	0	0	0	13106	304	11	5	1663	5	RBAK	7	5104736	Missense_Mutation	SNP	A	TCGA-BQ-5880-01A-11D-1589-08		5104736	154033927	15	24925											
SP4	6671	hgsc.bcm.edu	37	7	21468915	21468915	+	Silent	SNP	G	G	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr7:21468915G>A	ENST00000222584.3	+	3	350	c.132G>A	c.(130-132)caG>caA	p.Q44Q		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	44					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGGACTCTCAGCCCTCTCCTC	0.483																																																0													34	37	36					7																	21468915		2201	4300	6501	SO:0001819	synonymous_variant	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.132G>A	chr7.hg19:g.21468915G>A			O60402|Q32M52	Silent	SNP	ENST00000222584.3	hg19	CCDS5373.1																																																																																				0.483	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		A	21468915	G	A	21468915	2	1	456	1	0	0	0	0	0	0	0	1	14972	962	34	2		2	SP4	7	21468915	Silent	SNP	G	TCGA-BQ-5880-01A-11D-1589-08	16364179	21468915	137669748	16	24926											
CCDC132	55610	hgsc.bcm.edu	37	7	92932848	92932848	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr7:92932848A>G	ENST00000305866.5	+	17	1566	c.1438A>G	c.(1438-1440)Atc>Gtc	p.I480V	CCDC132_ENST00000541136.1_Missense_Mutation_p.I291V|CCDC132_ENST00000317751.6_Missense_Mutation_p.I211V|CCDC132_ENST00000535481.1_Missense_Mutation_p.I200V|CCDC132_ENST00000544910.1_Missense_Mutation_p.I450V	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	480						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATTTCAGCATCTTGCAACT	0.308																																																0													138	134	135					7																	92932848		1818	4077	5895	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1438A>G	chr7.hg19:g.92932848A>G	ENSP00000307666:p.Ile480Val		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	hg19	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.801621	0.31869	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	T	0.39229	1.09	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	L	0.27053	0.805	0.80722	D	1	P;P;P	0.38863	0.518;0.65;0.518	P;P;P	0.54140	0.558;0.743;0.558	T	0.19257	-1.0311	10	0.14252	T	0.57	-8.589	15.0541	0.71897	1.0:0.0:0.0:0.0	.	200;450;480	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	V	480;450;291;200;211	ENSP00000325582:I211V	ENSP00000307666:I480V	I	+	1	0	CCDC132	92770784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.200000	0.70718	0.460000	0.39030	ATC		0.308	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		G	92932848	A	G	92932848	3	3	456	1	0	0	0	0	1	0	0	0	2769	217	8	3	1546	3	CCDC132	7	92932848	Missense_Mutation	SNP	A	TCGA-BQ-5880-01A-11D-1589-08	71463933	92932848	66205815	17	24927											
STAG3	10734	hgsc.bcm.edu	37	7	99779767	99779767	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr7:99779767delT	ENST00000426455.1	+	3	578	c.171delT	c.(169-171)aatfs	p.N57fs	STAG3_ENST00000394018.2_Frame_Shift_Del_p.N57fs|STAG3_ENST00000317296.5_Frame_Shift_Del_p.N57fs	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	57					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCTTGAATCGCAATGTGA	0.438																																																0													122	112	115					7																	99779767		2203	4300	6503	SO:0001589	frameshift_variant	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.171delT	chr7.hg19:g.99779767delT	ENSP00000400359:p.Asn57fs		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Frame_Shift_Del	DEL	ENST00000426455.1	hg19	CCDS34703.1																																																																																				0.438	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		-	99779767	T	-	99779767	7	5	456	1	0	1	0	1	0	0	0	0	15249	1432	50	0	177	0	STAG3	7	99779767	Frame_Shift_Del	DEL	T	TCGA-BQ-5880-01A-11D-1589-08	6846919	99779767	59358896	18	24928											
RGP1	57704	hgsc.bcm.edu	37	9	35751270	35751270	+	5'Flank	SNP	G	G	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr9:35751270G>A	ENST00000378103.3	-	0	0				RGP1_ENST00000378078.4_Silent_p.Q165Q|RGP1_ENST00000456972.2_Silent_p.Q205Q|GBA2_ENST00000378094.4_5'Flank|GBA2_ENST00000545786.1_5'Flank|MSMP_ENST00000414286.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGGCCTTCAGGATGTCCGGT	0.498																																																0													226	221	222					9																	35751270		1947	4138	6085	SO:0001631	upstream_gene_variant	9827			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		chr9.hg19:g.35751270G>A	Exception_encountered		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	hg19	CCDS6589.1																																																																																				0.498	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		A	35751270	G	A	35751270	1	1	456	0	1	0	0	0	0	0	0	0	13290	991	35	2		2	RGP1	9	35751270	5'Flank	SNP	G	TCGA-BQ-5880-01A-11D-1589-08		35751270	105462161	19	24929											
NUP214	8021	hgsc.bcm.edu	37	9	134020018	134020018	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr9:134020018G>T	ENST00000359428.5	+	12	1790	c.1646G>T	c.(1645-1647)gGa>gTa	p.G549V	RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.G549V|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.G549V|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	549	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTCTCCTTTGGATCATCTGGT	0.537			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													82	78	79					9																	134020018		2203	4300	6503	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1646G>T	chr9.hg19:g.134020018G>T	ENSP00000352400:p.Gly549Val		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	hg19	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.184253|4.184253	0.78677|0.78677	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899|ENST00000530863	T;T;T|.	0.40756|.	1.24;1.02;1.25|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.000000|.	0.42172|.	D|.	0.000758|.	T|T	0.45935|0.45935	0.1367|0.1367	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.63046|.	0.992;0.992|.	P;P|.	0.59357|.	0.856;0.856|.	T|T	0.41034|0.41034	-0.9531|-0.9531	10|5	0.51188|.	T|.	0.08|.	-8.3011|-8.3011	17.3793|17.3793	0.87400|0.87400	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	549;549|.	P35658-4;P35658|.	.;NU214_HUMAN|.	V|C	549;549;549;549;142|124	ENSP00000352400:G549V;ENSP00000396576:G549V;ENSP00000405014:G549V|.	ENSP00000352400:G549V|.	G|W	+|+	2|3	0|0	NUP214|NUP214	133009839|133009839	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.875000|0.875000	0.50365|0.50365	5.666000|5.666000	0.68059|0.68059	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.537	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		T	134020018	G	T	134020018	3	4	456	1	0	0	0	0	1	0	0	0	10764	1174	41	4	1692	4	NUP214	9	134020018	Missense_Mutation	SNP	G	TCGA-BQ-5880-01A-11D-1589-08	98268748	134020018	7193413	20	24930											
CUBN	8029	hgsc.bcm.edu	37	10	16918967	16918967	+	Missense_Mutation	SNP	G	G	A	rs143741363		TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr10:16918967G>A	ENST00000377833.4	-	57	9100	c.9035C>T	c.(9034-9036)cCg>cTg	p.P3012L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3012	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGCAGAACCGGCCCAGCGAT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		17695	0.001		0.0	False		,,,				2504	0.0															0								G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	124	108	114		9035	5.8	0.3	10	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUBN	NM_001081.3	98	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	3012/3624	16918967	3,13003	2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9035C>T	chr10.hg19:g.16918967G>A	ENSP00000367064:p.Pro3012Leu		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015130	0.75161	4.54E-4	1.16E-4	ENSG00000107611	ENST00000377833	T	0.16897	2.31	5.8	5.8	0.92144	CUB (5);	0.000000	0.46758	D	0.000275	T	0.22781	0.0550	L	0.48362	1.52	0.80722	D	1	D	0.55800	0.973	P	0.44897	0.463	T	0.00402	-1.1762	10	0.54805	T	0.06	.	18.8345	0.92155	0.0:0.0:1.0:0.0	.	3012	O60494	CUBN_HUMAN	L	3012	ENSP00000367064:P3012L	ENSP00000367064:P3012L	P	-	2	0	CUBN	16958973	1.000000	0.71417	0.339000	0.25562	0.006000	0.05464	7.336000	0.79245	2.735000	0.93741	0.655000	0.94253	CCG		0.483	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	16918967	G	A	16918967	3	1	456	1	0	0	0	0	1	0	0	0	4053	1116	39	1	1880	1	CUBN	10	16918967	Missense_Mutation	SNP	G	TCGA-BQ-5880-01A-11D-1589-08		16918967	118615780	21	24931											
ACADSB	36	hgsc.bcm.edu	37	10	124793900	124793900	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr10:124793900C>T	ENST00000358776.4	+	2	85	c.71C>T	c.(70-72)tCt>tTt	p.S24F	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_5'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	24					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	ACTTGTTTGTCTTCTTGGAAG	0.363																																																0													143	141	142					10																	124793900		2203	4300	6503	SO:0001583	missense	36			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.71C>T	chr10.hg19:g.124793900C>T	ENSP00000357873:p.Ser24Phe		B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	hg19	CCDS7634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.85|16.85	3.235388|3.235388	0.58886|0.58886	.|.	.|.	ENSG00000196177|ENSG00000196177	ENST00000411816|ENST00000358776	.|D	.|0.97430	.|-4.38	4.95|4.95	4.02|4.02	0.46733|0.46733	.|.	.|0.689788	.|0.14097	.|N	.|0.341677	D|D	0.93792|0.93792	0.8015|0.8015	L|L	0.27053|0.27053	0.805|0.805	0.26364|0.26364	N|N	0.976999|0.976999	.|P	.|0.45283	.|0.855	.|B	.|0.41510	.|0.359	D|D	0.87882|0.87882	0.2678|0.2678	5|10	.|0.49607	.|T	.|0.09	.|.	12.9162|12.9162	0.58207|0.58207	0.0:0.6883:0.3117:0.0|0.0:0.6883:0.3117:0.0	.|.	.|24	.|P45954	.|ACDSB_HUMAN	F|F	30|24	.|ENSP00000357873:S24F	.|ENSP00000357873:S24F	L|S	+|+	1|2	0|0	ACADSB|ACADSB	124783890|124783890	0.776000|0.776000	0.28616|0.28616	0.955000|0.955000	0.39395|0.39395	0.812000|0.812000	0.45895|0.45895	1.477000|1.477000	0.35431|0.35431	1.167000|1.167000	0.42706|0.42706	0.591000|0.591000	0.81541|0.81541	CTT|TCT		0.363	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		T	124793900	C	T	124793900	3	4	456	1	0	0	0	0	1	0	0	0	115	913	32	2	77	2	ACADSB	10	124793900	Missense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08	107874933	124793900	10740847	22	24932											
LGR4	55366	hgsc.bcm.edu	37	11	27390335	27390336	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr11:27390335_27390336insA	ENST00000379214.4	-	18	2377_2378	c.1934_1935insT	c.(1933-1935)ttafs	p.L645fs	LGR4_ENST00000389858.4_Frame_Shift_Ins_p.L621fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	645					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CTTTTGCAGATAAGCTTCTTTC	0.431																																																0																																										SO:0001589	frameshift_variant	55366			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1935dupT	chr11.hg19:g.27390337_27390337dupA	ENSP00000368516:p.Leu645fs		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Frame_Shift_Ins	INS	ENST00000379214.4	hg19	CCDS31449.1																																																																																				0.431	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		A	27390336	-	A	27390335	7	5	456	1	0	1	1	0	0	0	0	0	8758	1403	49	0	924	0	LGR4	11	27390335	Frame_Shift_Ins	INS	-	TCGA-BQ-5880-01A-11D-1589-08		27390335	107616181	23	24933											
OR8J3	81168	hgsc.bcm.edu	37	11	55904466	55904466	+	Silent	SNP	C	C	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr11:55904466C>T	ENST00000301529.1	-	1	728	c.729G>A	c.(727-729)tcG>tcA	p.S243S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S243S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CTATCATATGCGAAGCGCAGG	0.403																																																1	Substitution - coding silent(1)	endometrium(1)											122	113	116					11																	55904466		2201	4296	6497	SO:0001819	synonymous_variant	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.729G>A	chr11.hg19:g.55904466C>T			Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	hg19	CCDS31520.1																																																																																				0.403	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		T	55904466	C	T	55904466	2	4	456	1	0	0	0	0	0	0	0	1	11244	755	27	1		1	OR8J3	11	55904466	Silent	SNP	C	TCGA-BQ-5880-01A-11D-1589-08	28514131	55904466	79102050	24	24934											
DPAGT1	1798	hgsc.bcm.edu	37	11	118971040	118971040	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr11:118971040C>T	ENST00000409993.2	-	6	2126	c.575G>A	c.(574-576)gGc>gAc	p.G192D	DPAGT1_ENST00000445653.1_5'Flank|DPAGT1_ENST00000354202.4_Missense_Mutation_p.G192D|DPAGT1_ENST00000432443.2_Missense_Mutation_p.G85D			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	192			G -> S (in CMSTA2). {ECO:0000269|PubMed:22742743}.		cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGCCTCTAGGCCGTTAATTCC	0.507											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													107	104	105					11																	118971040		2200	4295	6495	SO:0001583	missense	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.575G>A	chr11.hg19:g.118971040C>T	ENSP00000386597:p.Gly192Asp	1492	O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	hg19	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350440	0.95830	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.98914	-5.23;-5.23;-5.23	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97880	1.0291	10	0.87932	D	0	-21.1374	18.6978	0.91607	0.0:1.0:0.0:0.0	.	85;192	E7EW40;Q9H3H5	.;GPT_HUMAN	D	192;192;85	ENSP00000386597:G192D;ENSP00000346142:G192D;ENSP00000404036:G85D	ENSP00000346142:G192D	G	-	2	0	DPAGT1	118476250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	GGC		0.507	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		T	118971040	C	T	118971040	3	4	456	1	0	0	0	0	1	0	0	0	4712	739	26	2	675	2	DPAGT1	11	118971040	Missense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08	63066574	118971040	16035476	25	24935											
PRB4	5545	hgsc.bcm.edu	37	12	11461597	11461597	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr12:11461597delC	ENST00000535904.1	-	3	353	c.320delG	c.(319-321)ggafs	p.G107fs	PRB4_ENST00000279575.1_Frame_Shift_Del_p.G107fs|PRB4_ENST00000445719.2_Frame_Shift_Del_p.G107fs			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	128	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.612										HNSCC(22;0.051)																																						0													190	200	197					12																	11461597		2203	4299	6502	SO:0001589	frameshift_variant	5545				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.320delG	chr12.hg19:g.11461597delC	ENSP00000442834:p.Gly107fs		A1L439|O00600|P02813|P10161|P10162|P81489	Frame_Shift_Del	DEL	ENST00000535904.1	hg19	CCDS8641.1																																																																																				0.612	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		-	11461597	C	-	11461597	7	5	456	1	0	1	0	1	0	0	0	0	12450	855	30	0	427	0	PRB4	12	11461597	Frame_Shift_Del	DEL	C	TCGA-BQ-5880-01A-11D-1589-08		11461597	122390298	26	24936											
MLL2	8085	hgsc.bcm.edu	37	12	49443557	49443558	+	Frame_Shift_Del	DEL	AT	AT	-	rs201794205		TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr12:49443557_49443558delAT	ENST00000301067.7	-	11	3812_3813	c.3813_3814delAT	c.(3811-3816)ctattgfs	p.LL1271fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1271					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCATCGCACAATAGTGAGTCAT	0.609																																																0																																										SO:0001589	frameshift_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3813_3814delAT	chr12.hg19:g.49443557_49443558delAT	ENSP00000301067:p.Leu1271fs		O14687	Frame_Shift_Del	DEL	ENST00000301067.7	hg19	CCDS44873.1																																																																																				0.609	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			-	49443558	AT	-	49443557	7	5	456	1	0	1	0	1	0	0	0	0	9623	98	4	0	12975	0	MLL2	12	49443557	Frame_Shift_Del	DEL	AT	TCGA-BQ-5880-01A-11D-1589-08	37981960	49443557	84408338	27	24937											
DGKA	1606	hgsc.bcm.edu	37	12	56346149	56346149	+	Missense_Mutation	SNP	C	C	G	rs546159503		TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr12:56346149C>G	ENST00000331886.5	+	20	2131	c.1677C>G	c.(1675-1677)ttC>ttG	p.F559L	DGKA_ENST00000551156.1_Missense_Mutation_p.F559L|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.F559L	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	559					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TATGGTACTTCGAATTTGCCA	0.478																																																0													163	139	147					12																	56346149		2203	4300	6503	SO:0001583	missense	1606			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1677C>G	chr12.hg19:g.56346149C>G	ENSP00000328405:p.Phe559Leu		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	hg19	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404771	0.42613	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156;ENST00000552903	T;T;T;T;T	0.39229	1.09;1.67;1.09;1.09;1.67	5.02	-9.21	0.00678	Diacylglycerol kinase, accessory domain (2);	0.053094	0.85682	N	0.000000	T	0.34600	0.0903	L	0.43923	1.385	0.45914	D	0.998757	B;B	0.29378	0.01;0.243	B;B	0.42214	0.054;0.38	T	0.43294	-0.9400	10	0.49607	T	0.09	.	11.684	0.51474	0.0:0.1096:0.2082:0.6822	.	478;559	G3V4E1;P23743	.;DGKA_HUMAN	L	559;478;559;559;169	ENSP00000328405:F559L;ENSP00000451743:F478L;ENSP00000377703:F559L;ENSP00000450359:F559L;ENSP00000451518:F169L	ENSP00000328405:F559L	F	+	3	2	DGKA	54632416	0.169000	0.23002	0.857000	0.33713	0.979000	0.70002	-0.687000	0.05156	-1.471000	0.01886	-0.339000	0.08088	TTC		0.478	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			G	56346149	C	G	56346149	3	3	456	1	0	0	0	0	1	0	0	0	4467	883	31	4	1751	4	DGKA	12	56346149	Missense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08	6902592	56346149	77505746	28	24938											
RDH11	51109	hgsc.bcm.edu	37	14	68157017	68157017	+	Silent	SNP	G	G	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr14:68157017G>A	ENST00000381346.4	-	5	686	c.576C>T	c.(574-576)ggC>ggT	p.G192G	RP11-1012A1.4_ENST00000553306.1_Missense_Mutation_p.A23V|RDH11_ENST00000428130.2_Intron|RDH11_ENST00000553384.1_Silent_p.G179G|RP11-1012A1.4_ENST00000554493.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	192					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	AGAATTTCTCGCCCTGCAGGT	0.517																																																0													186	159	168					14																	68157017		2203	4300	6503	SO:0001819	synonymous_variant	51109			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	17964	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 1", "androgen-regulated short-chain dehydrogenase/reductase 1"	607849	"retinol dehydrogenase 11 (all-trans and 9-cis)"			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.576C>T	chr14.hg19:g.68157017G>A			A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Silent	SNP	ENST00000381346.4	hg19	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	G	9.466	1.094486	0.20471	.	.	ENSG00000258466	ENST00000557564	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.33440	0.0863	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41124	-0.9526	4	.	.	.	.	3.1001	0.06323	0.2592:0.1913:0.4203:0.1292	.	.	.	.	V	23	.	.	A	-	2	0	RP11-1012A1.4	67226770	0.000000	0.05858	0.230000	0.23976	0.971000	0.66376	-1.633000	0.02022	-2.268000	0.00685	-0.150000	0.13652	GCG		0.517	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			A	68157017	G	A	68157017	2	1	456	1	0	0	0	0	0	0	0	1	13196	1074	38	1		1	RDH11	14	68157017	Silent	SNP	G	TCGA-BQ-5880-01A-11D-1589-08		68157017	39192523	29	24939											
RFX7	64864	hgsc.bcm.edu	37	15	56387238	56387238	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr15:56387238C>G	ENST00000559447.2	-	9	2668	c.2397G>C	c.(2395-2397)caG>caC	p.Q799H	RFX7_ENST00000423270.1_Missense_Mutation_p.Q896H|RFX7_ENST00000422057.1_Missense_Mutation_p.Q799H|RFX7_ENST00000317318.6_Missense_Mutation_p.Q896H			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	799					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTGACATTTGCTGCTCCATAA	0.418																																																0													105	103	103					15																	56387238		1983	4164	6147	SO:0001583	missense	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2397G>C	chr15.hg19:g.56387238C>G	ENSP00000453281:p.Gln799His		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	hg19		.	.	.	.	.	.	.	.	.	.	C	12.40	1.925982	0.34002	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.53423	0.62;0.62;0.62	5.57	4.46	0.54185	.	0.069338	0.51477	D	0.000090	T	0.33614	0.0869	N	0.14661	0.345	0.38957	D	0.95847	P;P	0.49961	0.855;0.93	B;P	0.44732	0.359;0.459	T	0.34304	-0.9834	10	0.87932	D	0	-7.1862	10.8605	0.46823	0.0:0.8402:0.0:0.1598	.	799;799	Q2KHR2;C9JU50	RFX7_HUMAN;.	H	799;896;896	ENSP00000387504:Q799H;ENSP00000313299:Q896H;ENSP00000397644:Q896H	ENSP00000313299:Q896H	Q	-	3	2	RFX7	54174530	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.596000	0.24044	2.602000	0.87976	0.514000	0.50259	CAG		0.418	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		G	56387238	C	G	56387238	3	3	456	1	0	0	0	0	1	0	0	0	13274	796	28	4	1698	4	RFX7	15	56387238	Missense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08		56387238	46144154	30	24940											
FASN	2194	hgsc.bcm.edu	37	17	80041413	80041413	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr17:80041413A>C	ENST00000306749.2	-	31	5539	c.5321T>G	c.(5320-5322)cTt>cGt	p.L1774R	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1774	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GTTCTGAGAAAGGTCGAATTT	0.637																																					Colon(59;314 1043 11189 28578 32273)											0													54	53	54					17																	80041413		2199	4298	6497	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5321T>G	chr17.hg19:g.80041413A>C	ENSP00000304592:p.Leu1774Arg		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846071	0.51164	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.04083	3.71	4.77	3.69	0.42338	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.076785	0.56097	D	0.000039	T	0.24236	0.0587	M	0.90252	3.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.01127	-1.1443	10	0.87932	D	0	-12.1836	9.8571	0.41092	0.9181:0.0:0.0819:0.0	.	1774	P49327	FAS_HUMAN	R	1774;739	ENSP00000304592:L1774R	ENSP00000304592:L1774R	L	-	2	0	FASN	77634702	1.000000	0.71417	0.518000	0.27811	0.128000	0.20619	8.901000	0.92560	0.675000	0.31264	0.459000	0.35465	CTT		0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		C	80041413	A	C	80041413	3	2	456	1	0	0	0	0	1	0	0	0	5685	72	3	5	2266	5	FASN	17	80041413	Missense_Mutation	SNP	A	TCGA-BQ-5880-01A-11D-1589-08		80041413	1153797	31	24941											
LAMA1	284217	hgsc.bcm.edu	37	18	7025998	7025998	+	Silent	SNP	A	A	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr18:7025998A>G	ENST00000389658.3	-	17	2475	c.2382T>C	c.(2380-2382)ccT>ccC	p.P794P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	794	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTATGGTGAGAGGGCAGGCGC	0.622																																																0													51	42	45					18																	7025998		2203	4300	6503	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2382T>C	chr18.hg19:g.7025998A>G				Silent	SNP	ENST00000389658.3	hg19	CCDS32787.1																																																																																				0.622	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		G	7025998	A	G	7025998	2	3	456	1	0	0	0	0	0	0	0	1	8607	291	11	3		3	LAMA1	18	7025998	Silent	SNP	A	TCGA-BQ-5880-01A-11D-1589-08		7025998	71051250	32	24942											
ZNF236	7776	hgsc.bcm.edu	37	18	74622686	74622686	+	Silent	SNP	C	C	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr18:74622686C>T	ENST00000253159.8	+	16	2916	c.2718C>T	c.(2716-2718)agC>agT	p.S906S	ZNF236_ENST00000320610.9_Silent_p.S908S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	906					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGATTCCAGCACACTTGAGT	0.493																																																0													73	72	72					18																	74622686		2000	4185	6185	SO:0001819	synonymous_variant	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2718C>T	chr18.hg19:g.74622686C>T			B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	hg19	CCDS42447.1																																																																																				0.493	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			T	74622686	C	T	74622686	2	4	456	1	0	0	0	0	0	0	0	1	17794	709	25	2		2	ZNF236	18	74622686	Silent	SNP	C	TCGA-BQ-5880-01A-11D-1589-08	67596688	74622686	3454562	33	24943											
ZNF266	10781	hgsc.bcm.edu	37	19	9524367	9524367	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr19:9524367T>G	ENST00000592904.1	-	5	3310	c.1234A>C	c.(1234-1236)Aaa>Caa	p.K412Q	ZNF266_ENST00000592292.1_Missense_Mutation_p.K412Q|ZNF266_ENST00000361151.1_Missense_Mutation_p.K412Q|ZNF266_ENST00000588221.1_Missense_Mutation_p.K412Q|ZNF266_ENST00000590306.1_Missense_Mutation_p.K412Q|ZNF266_ENST00000588933.1_Missense_Mutation_p.K412Q|ZNF266_ENST00000361451.2_Missense_Mutation_p.K412Q			Q14584	ZN266_HUMAN	zinc finger protein 266	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTCCCACATTTGACACATTCA	0.433																																																0													72	72	72					19																	9524367		2203	4300	6503	SO:0001583	missense	10781			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"Zinc fingers, C2H2-type"	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1234A>C	chr19.hg19:g.9524367T>G	ENSP00000466714:p.Lys412Gln		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	hg19	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259791	0.39995	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.07444	3.19;3.19	2.76	-5.41	0.02648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02533	0.0077	N	0.03029	-0.43	0.09310	N	1	B	0.22604	0.072	B	0.17098	0.017	T	0.45848	-0.9233	9	0.21014	T	0.42	.	5.5147	0.16900	0.0:0.411:0.2893:0.2997	.	412	Q14584	ZN266_HUMAN	Q	412	ENSP00000354680:K412Q;ENSP00000355047:K412Q	ENSP00000355047:K412Q	K	-	1	0	ZNF266	9385367	0.000000	0.05858	0.000000	0.03702	0.998000	0.95712	-1.671000	0.01954	-1.372000	0.02137	0.454000	0.30748	AAA		0.433	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			G	9524367	T	G	9524367	3	3	456	1	0	0	0	0	1	0	0	0	17810	1821	63	5	419	5	ZNF266	19	9524367	Missense_Mutation	SNP	T	TCGA-BQ-5880-01A-11D-1589-08		9524367	49604616	34	24944											
ZNF561	93134	hgsc.bcm.edu	37	19	9721627	9721627	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr19:9721627G>A	ENST00000302851.3	-	6	1073	c.710C>T	c.(709-711)tCt>tTt	p.S237F	ZNF561_ENST00000354661.4_Missense_Mutation_p.S101F|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.S168F	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TAGGTGTGAAGAAGCTGTGAC	0.373																																																0													65	63	63					19																	9721627		2203	4300	6503	SO:0001583	missense	93134			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"Zinc fingers, C2H2-type", "-"	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.710C>T	chr19.hg19:g.9721627G>A	ENSP00000303915:p.Ser237Phe		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	hg19	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655669	0.29425	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661;ENST00000444611	T;T;T;T	0.29917	1.55;1.55;1.55;2.36	1.1	1.1	0.20463	.	.	.	.	.	T	0.48223	0.1488	M	0.77486	2.375	0.09310	N	1	D	0.61697	0.99	D	0.71656	0.974	T	0.22312	-1.0220	9	0.37606	T	0.19	.	5.1359	0.14934	0.0:0.3792:0.6208:0.0	.	237	Q8N587	ZN561_HUMAN	F	168;237;101;243	ENSP00000393074:S168F;ENSP00000303915:S237F;ENSP00000346687:S101F;ENSP00000392013:S243F	ENSP00000303915:S237F	S	-	2	0	ZNF561	9582627	0.019000	0.18553	0.002000	0.10522	0.033000	0.12548	2.273000	0.43381	0.905000	0.36596	0.298000	0.19748	TCT		0.373	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		A	9721627	G	A	9721627	3	1	456	1	0	0	0	0	1	0	0	0	17997	942	33	2	754	2	ZNF561	19	9721627	Missense_Mutation	SNP	G	TCGA-BQ-5880-01A-11D-1589-08	197260	9721627	49407356	35	24945											
MYO9B	4650	hgsc.bcm.edu	37	19	17311587	17311587	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr19:17311587G>T	ENST00000594824.1	+	26	4659	c.4512G>T	c.(4510-4512)caG>caT	p.Q1504H	MYO9B_ENST00000397274.2_Missense_Mutation_p.Q1504H|MYO9B_ENST00000595618.1_Missense_Mutation_p.Q1504H			Q13459	MYO9B_HUMAN	myosin IXB	1504	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGTTCCGCCAGATCACCAACG	0.577																																																0													127	138	135					19																	17311587		2113	4228	6341	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4512G>T	chr19.hg19:g.17311587G>T	ENSP00000471367:p.Gln1504His		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.57	1.977073	0.34848	.	.	ENSG00000099331	ENST00000397274	D	0.84223	-1.82	4.75	2.43	0.29744	.	0.446964	0.20636	N	0.088489	T	0.68137	0.2968	N	0.08118	0	0.29597	N	0.848014	P;P;P;P	0.37708	0.472;0.606;0.472;0.472	B;B;B;B	0.37422	0.116;0.249;0.116;0.126	T	0.65508	-0.6151	10	0.44086	T	0.13	.	7.4385	0.27169	0.2708:0.0:0.7292:0.0	.	1504;1504;1504;1510	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	H	1504	ENSP00000380444:Q1504H	ENSP00000380444:Q1504H	Q	+	3	2	MYO9B	17172587	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.332000	0.33805	1.006000	0.39211	0.491000	0.48974	CAG		0.577	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			T	17311587	G	T	17311587	3	4	456	1	0	0	0	0	1	0	0	0	10087	933	33	4	4610	4	MYO9B	19	17311587	Missense_Mutation	SNP	G	TCGA-BQ-5880-01A-11D-1589-08	7589960	17311587	41817396	36	24946											
UMODL1	89766	hgsc.bcm.edu	37	21	43505425	43505425	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr21:43505425C>T	ENST00000408910.2	+	4	506	c.506C>T	c.(505-507)tCc>tTc	p.S169F	UMODL1_ENST00000408989.2_Missense_Mutation_p.S169F|UMODL1_ENST00000400427.1_Missense_Mutation_p.S97F|UMODL1_ENST00000400424.2_Missense_Mutation_p.S97F	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	169					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTGTGGGCTCCTGGTACAAC	0.537																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											0													113	117	116					21																	43505425		1912	4141	6053	SO:0001583	missense	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.506C>T	chr21.hg19:g.43505425C>T	ENSP00000386147:p.Ser169Phe		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	hg19	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	8.956	0.969471	0.18659	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417;ENST00000423139	T;T;T;T	0.72394	-0.65;-0.63;-0.65;-0.63	3.02	-6.05	0.02172	.	0.899723	0.09081	N	0.851345	T	0.29423	0.0733	N	0.00823	-1.155	0.20703	N	0.999862	B;B	0.20261	0.043;0.0	B;B	0.15052	0.012;0.0	T	0.18178	-1.0345	10	0.32370	T	0.25	-0.4883	1.9738	0.03412	0.1682:0.5079:0.1126:0.2114	.	169;169	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	F	97;97;169;169;15;15;4	ENSP00000383279:S97F;ENSP00000383276:S97F;ENSP00000386126:S169F;ENSP00000386147:S169F	ENSP00000369829:S15F	S	+	2	0	UMODL1	42378494	0.020000	0.18652	0.030000	0.17652	0.492000	0.33523	-1.121000	0.03270	-1.577000	0.01650	-0.253000	0.11424	TCC		0.537	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43505425	C	T	43505425	3	4	456	1	0	0	0	0	1	0	0	0	16985	855	30	2	520	2	UMODL1	21	43505425	Missense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08		43505425	4624470	37	24947											
MYO18B	84700	hgsc.bcm.edu	37	22	26400727	26400727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr22:26400727C>T	ENST00000407587.2	+	42	6548	c.6379C>T	c.(6379-6381)Cag>Tag	p.Q2127*	MYO18B_ENST00000335473.7_Nonsense_Mutation_p.Q2126*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q2126*			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2126						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGCAGCCTGCAGTCCTGGTT	0.532																																																0													79	83	81					22																	26400727		2115	4248	6363	SO:0001587	stop_gained	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6379C>T	chr22.hg19:g.26400727C>T	ENSP00000386096:p.Gln2127*		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Nonsense_Mutation	SNP	ENST00000407587.2	hg19		.	.	.	.	.	.	.	.	.	.	C	48	14.649130	0.99804	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	.	.	.	4.33	3.25	0.37280	.	1.244550	0.05893	N	0.628605	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	8.5131	0.33229	0.2492:0.7508:0.0:0.0	.	.	.	.	X	2126;2126;2127	.	ENSP00000334563:Q2126X	Q	+	1	0	MYO18B	24730727	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.482000	0.45224	2.246000	0.74042	0.650000	0.86243	CAG		0.532	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26400727	C	T	26400727	4	4	456	1	0	0	0	0	0	1	0	0	10068	711	25	2	6538	2	MYO18B	22	26400727	Nonsense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08		26400727	24903839	38	24948											
MKL1	57591	hgsc.bcm.edu	37	22	40814880	40814880	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr22:40814880C>T	ENST00000355630.3	-	12	2152	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	MKL1_ENST00000402042.1_Missense_Mutation_p.R471H|MKL1_ENST00000407029.1_Missense_Mutation_p.R521H|MKL1_ENST00000396617.3_Missense_Mutation_p.R521H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	521					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTCCTTGTCGCGCCCCTCTAG	0.682			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													28	33	31					22																	40814880		2203	4297	6500	SO:0001583	missense	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1562G>A	chr22.hg19:g.40814880C>T	ENSP00000347847:p.Arg521His		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	hg19	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.039005	0.35989	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.44482	0.93;0.92;0.93;0.93	4.89	3.86	0.44501	.	0.428770	0.23016	N	0.052902	T	0.30230	0.0758	N	0.04959	-0.14	0.09310	N	0.999999	D;D;D	0.67145	0.968;0.996;0.993	B;P;P	0.53185	0.374;0.72;0.609	T	0.05852	-1.0860	10	0.45353	T	0.12	-4.7852	8.2012	0.31426	0.1863:0.7301:0.0:0.0835	.	471;521;521	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	H	521;521;471;521	ENSP00000347847:R521H;ENSP00000379861:R521H;ENSP00000385584:R471H;ENSP00000385835:R521H	ENSP00000347847:R521H	R	-	2	0	MKL1	39144826	0.227000	0.23707	0.758000	0.31321	0.866000	0.49608	0.691000	0.25467	1.165000	0.42670	0.591000	0.81541	CGC		0.682	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		T	40814880	C	T	40814880	3	4	456	1	0	0	0	0	1	0	0	0	9603	768	27	1	1249	1	MKL1	22	40814880	Missense_Mutation	SNP	C	TCGA-BQ-5880-01A-11D-1589-08	14414153	40814880	10489686	39	24949											
MAOB	4129	hgsc.bcm.edu	37	X	43702915	43702915	+	Splice_Site	SNP	C	C	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chrX:43702915C>G	ENST00000378069.4	-	2	289		c.e2+1		MAOB_ENST00000536181.1_Splice_Site|MAOB_ENST00000487544.1_Splice_Site|MAOB_ENST00000538942.1_Splice_Site	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B						negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TAATGCCTTACCCTAAGAGTG	0.478																																																0													83	67	73					X																	43702915		2203	4300	6503	SO:0001630	splice_region_variant	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.141+1G>C	chrX.hg19:g.43702915C>G			B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Splice_Site	SNP	ENST00000378069.4	hg19	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440115	0.83993	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5321	0.90996	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAOB	43587859	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.391000	0.66266	2.318000	0.78349	0.600000	0.82982	.		0.478	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898	Intron	G	43702915	C	G	43702915	5	3	456	1	0	0	0	0	0	0	1	0	9228	521	18	4	1476	4	MAOB	23	43702915	Splice_Site	SNP	C	TCGA-BQ-5880-01A-11D-1589-08		43702915	111567645	40	24950											
SMC1A	8243	hgsc.bcm.edu	37	X	53407985	53407985	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chrX:53407985A>T	ENST00000322213.4	-	23	3588	c.3461T>A	c.(3460-3462)gTc>gAc	p.V1154D	SMC1A_ENST00000469129.1_5'Flank	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1154	Ala/Asp-rich (DA-box).				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCATCCAGGACGAAGAAGGG	0.632																																																0													69	60	63					X																	53407985		2203	4300	6503	SO:0001583	missense	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3461T>A	chrX.hg19:g.53407985A>T	ENSP00000323421:p.Val1154Asp		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	hg19	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943345	0.73672	.	.	ENSG00000072501	ENST00000322213	D	0.92099	-2.97	5.29	5.29	0.74685	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97755	1.0217	10	0.87932	D	0	.	13.4304	0.61051	1.0:0.0:0.0:0.0	.	1154	Q14683	SMC1A_HUMAN	D	1154	ENSP00000323421:V1154D	ENSP00000323421:V1154D	V	-	2	0	SMC1A	53424710	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.113000	0.94321	1.882000	0.54519	0.481000	0.45027	GTC		0.632	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		T	53407985	A	T	53407985	3	4	456	1	0	0	0	0	1	0	0	0	14787	275	10	5	252	5	SMC1A	23	53407985	Missense_Mutation	SNP	A	TCGA-BQ-5880-01A-11D-1589-08	9705070	53407985	101862575	41	24951											
LPPR5	163404	hgsc.bcm.edu	37	1	99418655	99418655	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr1:99418655G>T	ENST00000263177.4	-	3	813	c.592C>A	c.(592-594)Ctc>Atc	p.L198I	LPPR5_ENST00000370188.3_Missense_Mutation_p.L198I	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		198						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										TAGACACTGAGAGCTGCTTCT	0.388																																																0													122	111	115					1																	99418655		2203	4300	6503	SO:0001583	missense	0																														ENST00000263177.4:c.592C>A	chr1.hg19:g.99418655G>T	ENSP00000263177:p.Leu198Ile		A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	hg19	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.807957	0.70797	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.56776	0.44;0.44	5.16	4.25	0.50352	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	L	0.45285	1.41	0.45390	D	0.998374	D;D	0.64830	0.992;0.994	P;P	0.59012	0.652;0.85	T	0.55270	-0.8167	10	0.62326	D	0.03	.	12.987	0.58598	0.0783:0.0:0.9217:0.0	.	198;198	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	I	198	ENSP00000359207:L198I;ENSP00000263177:L198I	ENSP00000263177:L198I	L	-	1	0	AL161744.1	99191243	1.000000	0.71417	0.959000	0.39883	0.950000	0.60333	7.449000	0.80643	1.311000	0.45024	0.655000	0.94253	CTC		0.388	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			T	99418655	G	T	99418655	3	4	457	1	0	0	0	0	1	0	0	0	8930	942	33	4	389	4	LPPR5	1	99418655	Missense_Mutation	SNP	G	TCGA-BQ-5881-01A-11D-1589-08		99418655	149831966	1	24952											
SMG5	23381	hgsc.bcm.edu	37	1	156236156	156236156	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr1:156236156T>C	ENST00000361813.5	-	12	1415	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'UTR	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	424					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CACAGGTTCCTTGGACTCTGG	0.582																																																0													40	42	41					1																	156236156		2203	4300	6503	SO:0001583	missense	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1271A>G	chr1.hg19:g.156236156T>C	ENSP00000355261:p.Lys424Arg		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	hg19	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	T	9.820	1.185549	0.21870	.	.	ENSG00000198952	ENST00000361813	T	0.29142	1.58	5.28	1.67	0.24075	.	0.436632	0.25777	N	0.028378	T	0.04048	0.0113	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.33266	-0.9875	10	0.09843	T	0.71	-8.5258	5.1542	0.15027	0.0:0.2355:0.1441:0.6204	.	424	Q9UPR3	SMG5_HUMAN	R	424	ENSP00000355261:K424R	ENSP00000355261:K424R	K	-	2	0	SMG5	154502780	1.000000	0.71417	0.364000	0.25888	0.638000	0.38207	0.547000	0.23299	0.030000	0.15379	0.460000	0.39030	AAG		0.582	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		C	156236156	T	C	156236156	3	2	457	1	0	0	0	0	1	0	0	0	14802	1609	56	3	1823	3	SMG5	1	156236156	Missense_Mutation	SNP	T	TCGA-BQ-5881-01A-11D-1589-08	56817501	156236156	93014465	2	24953											
POMC	5443	hgsc.bcm.edu	37	2	25387619	25387619	+	Missense_Mutation	SNP	C	C	T	rs146551109		TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:25387619C>T	ENST00000405623.1	-	2	478	c.23G>A	c.(22-24)cGc>cAc	p.R8H	POMC_ENST00000264708.3_Missense_Mutation_p.R8H|POMC_ENST00000395826.2_Missense_Mutation_p.R8H|POMC_ENST00000380794.1_Missense_Mutation_p.R8H			P01189	COLI_HUMAN	proopiomelanocortin	8					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)	p.R8H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GGCCCCCGAGCGGCTGCAGCA	0.612																																					Colon(110;1515 1566 8452 10082 43216)											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	41	44	43		23,23	3.8	0	2	dbSNP_134	43	0,8598		0,0,4299	no	missense,missense	POMC	NM_000939.2,NM_001035256.1	29,29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	8/268,8/268	25387619	1,13003	2203	4299	6502	SO:0001583	missense	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.23G>A	chr2.hg19:g.25387619C>T	ENSP00000384092:p.Arg8His		P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	hg19	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485311	0.26598	2.27E-4	0.0	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.64	3.82	0.43975	.	0.809526	0.10655	N	0.649411	T	0.64800	0.2631	L	0.33485	1.01	0.09310	N	1	D	0.60575	0.988	B	0.43916	0.436	T	0.52011	-0.8632	10	0.15952	T	0.53	-24.4143	4.8248	0.13410	0.1512:0.6107:0.0:0.2382	.	8	P01189	COLI_HUMAN	H	8	ENSP00000370171:R8H;ENSP00000384092:R8H;ENSP00000264708:R8H;ENSP00000379170:R8H;ENSP00000387993:R8H	ENSP00000264708:R8H	R	-	2	0	POMC	25241123	0.278000	0.24230	0.019000	0.16419	0.096000	0.18686	0.717000	0.25851	1.381000	0.46364	0.462000	0.41574	CGC		0.612	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		T	25387619	C	T	25387619	3	4	457	1	0	0	0	0	1	0	0	0	12244	768	27	1	788	1	POMC	2	25387619	Missense_Mutation	SNP	C	TCGA-BQ-5881-01A-11D-1589-08		25387619	217811754	3	24954											
BIRC6	57448	hgsc.bcm.edu	37	2	32656054	32656054	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:32656054A>C	ENST00000421745.2	+	12	3278	c.3144A>C	c.(3142-3144)gaA>gaC	p.E1048D		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1048					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTGGGTAGAAGTTCAACAAG	0.483																																					Pancreas(94;175 1509 16028 18060 45422)											0													92	80	84					2																	32656054		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.3144A>C	chr2.hg19:g.32656054A>C	ENSP00000393596:p.Glu1048Asp		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447198	0.63178	.	.	ENSG00000115760	ENST00000421745	D	0.84070	-1.8	5.62	0.657	0.17850	.	0.000000	0.85682	D	0.000000	D	0.83894	0.5353	L	0.36672	1.1	0.45541	D	0.998494	D	0.58970	0.984	D	0.68192	0.956	T	0.81510	-0.0900	10	0.87932	D	0	.	9.7011	0.40187	0.6633:0.0:0.3367:0.0	.	1048	Q9NR09	BIRC6_HUMAN	D	1048	ENSP00000393596:E1048D	ENSP00000393596:E1048D	E	+	3	2	BIRC6	32509558	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	1.623000	0.37008	-0.105000	0.12132	0.533000	0.62120	GAA		0.483	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		C	32656054	A	C	32656054	3	2	457	1	0	0	0	0	1	0	0	0	1438	69	3	5	3190	5	BIRC6	2	32656054	Missense_Mutation	SNP	A	TCGA-BQ-5881-01A-11D-1589-08	7268435	32656054	210543319	4	24955											
NFE2L2	4780	hgsc.bcm.edu	37	2	178098956	178098956	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:178098956A>C	ENST00000397062.3	-	2	643	c.89T>G	c.(88-90)cTt>cGt	p.L30R	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14R|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14R|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L30R(2)|p.L30H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTTACTCCAAGATCTATATC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	3	Substitution - Missense(3)	endometrium(2)|kidney(1)											68	61	63					2																	178098956		1839	4101	5940	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.89T>G	chr2.hg19:g.178098956A>C	ENSP00000380252:p.Leu30Arg		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	hg19	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.849301	0.71603	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.69931	0.3166	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.76061	-0.3097	10	0.87932	D	0	.	16.098	0.81144	1.0:0.0:0.0:0.0	.	14;14;14;30	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	R	14;30;14;14;14;14;14	ENSP00000380253:L14R;ENSP00000380252:L30R;ENSP00000411575:L14R;ENSP00000391590:L14R;ENSP00000400073:L14R;ENSP00000412191:L14R;ENSP00000410015:L14R	ENSP00000380252:L30R	L	-	2	0	NFE2L2	177807202	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.210000	0.71456	0.460000	0.39030	CTT		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		C	178098956	A	C	178098956	3	2	457	1	0	0	0	0	1	0	0	0	10370	72	3	5	1744	5	NFE2L2	2	178098956	Missense_Mutation	SNP	A	TCGA-BQ-5881-01A-11D-1589-08	145442902	178098956	65100417	5	24956											
SSFA2	6744	hgsc.bcm.edu	37	2	182786760	182786760	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:182786760G>C	ENST00000431877.2	+	16	3475	c.3296G>C	c.(3295-3297)gGa>gCa	p.G1099A	SSFA2_ENST00000428267.2_Missense_Mutation_p.G924A|SSFA2_ENST00000409001.1_Missense_Mutation_p.G1077A|SSFA2_ENST00000409136.1_Missense_Mutation_p.G608A|SSFA2_ENST00000320370.7_Missense_Mutation_p.G1099A|SSFA2_ENST00000467172.2_3'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1099						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATTCCTCCTGGAGAAAGCTCA	0.438																																																0													86	89	88					2																	182786760		2203	4300	6503	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.3296G>C	chr2.hg19:g.182786760G>C	ENSP00000388731:p.Gly1099Ala		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	hg19	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536228	0.27475	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136;ENST00000451836	T;T;T;T;T	0.13420	2.84;2.59;2.81;2.81;2.6	5.81	3.98	0.46160	.	0.255590	0.34156	N	0.004205	T	0.09512	0.0234	L	0.31120	0.905	0.33216	D	0.554017	B;B;B;B;B	0.20261	0.043;0.043;0.043;0.043;0.043	B;B;B;B;B	0.19148	0.024;0.024;0.024;0.024;0.024	T	0.10847	-1.0612	10	0.29301	T	0.29	-16.5272	8.2067	0.31458	0.1663:0.1882:0.6455:0.0	.	924;608;1077;1099;1099	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	A	1099;1099;1077;924;608;44	ENSP00000388731:G1099A;ENSP00000314669:G1099A;ENSP00000387319:G1077A;ENSP00000409867:G924A;ENSP00000386916:G608A	ENSP00000314669:G1099A	G	+	2	0	SSFA2	182495005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.480000	0.45206	1.461000	0.47929	0.563000	0.77884	GGA		0.438	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		C	182786760	G	C	182786760	3	2	457	1	0	0	0	0	1	0	0	0	15188	1174	41	4	3358	4	SSFA2	2	182786760	Missense_Mutation	SNP	G	TCGA-BQ-5881-01A-11D-1589-08	4687804	182786760	60412613	6	24957											
ZFAND2B	130617	hgsc.bcm.edu	37	2	220072989	220072989	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:220072989T>G	ENST00000289528.5	+	5	641	c.446T>G	c.(445-447)aTc>aGc	p.I149S	ZFAND2B_ENST00000444522.2_Missense_Mutation_p.I149S|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.I149S|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.I149S|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.I149S|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.I149S|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.I149S	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	149						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)	p.I149T(1)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGCTGCCATCTCCAGAGCA	0.532																																																1	Substitution - Missense(1)	kidney(1)											75	62	66					2																	220072989		2203	4300	6503	SO:0001583	missense	130617			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.446T>G	chr2.hg19:g.220072989T>G	ENSP00000289528:p.Ile149Ser		Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	hg19	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088523	0.55968	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T;T;T	0.44881	0.96;0.96;0.92;0.92;0.91;0.92;0.92;0.91	5.32	5.32	0.75619	Zinc finger, AN1-type (1);	0.400654	0.26646	N	0.023223	T	0.48241	0.1489	L	0.54323	1.7	0.40724	D	0.982682	D;B;B	0.57571	0.98;0.329;0.069	P;B;B	0.51550	0.673;0.116;0.053	T	0.52230	-0.8603	10	0.59425	D	0.04	-15.7601	11.5973	0.50981	0.0:0.0:0.0:1.0	.	40;149;149	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	S	149	ENSP00000386824:I149S;ENSP00000386399:I149S;ENSP00000289528:I149S;ENSP00000409931:I149S;ENSP00000387179:I149S;ENSP00000386898:I149S;ENSP00000386370:I149S;ENSP00000411334:I149S	ENSP00000289528:I149S	I	+	2	0	ZFAND2B	219781233	0.998000	0.40836	1.000000	0.80357	0.961000	0.63080	3.720000	0.54933	2.233000	0.73108	0.533000	0.62120	ATC		0.532	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		G	220072989	T	G	220072989	3	3	457	1	0	0	0	0	1	0	0	0	17633	1435	50	5	464	5	ZFAND2B	2	220072989	Missense_Mutation	SNP	T	TCGA-BQ-5881-01A-11D-1589-08	37286229	220072989	23126384	7	24958											
UGT1A3	54659	hgsc.bcm.edu	37	2	234637943	234637943	+	Silent	SNP	G	G	A	rs374045195		TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:234637943G>A	ENST00000482026.1	+	1	190	c.171G>A	c.(169-171)caG>caA	p.Q57Q	UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.Q57Q|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	57					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GAGGCCACCAGGCAGTGGTCC	0.552																																																0								G	,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	78	79	78		,,,,,,171,,	-2.3	0	2		78	0,8600		0,0,4300	no	intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A3	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	,,,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,,	,,,,,,57/535,,	234637943	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54659			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.171G>A	chr2.hg19:g.234637943G>A			B8K287	Silent	SNP	ENST00000482026.1	hg19	CCDS2509.1																																																																																				0.552	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		A	234637943	G	A	234637943	2	1	457	1	0	0	0	0	0	0	0	1	16951	991	35	2		2	UGT1A3	2	234637943	Silent	SNP	G	TCGA-BQ-5881-01A-11D-1589-08	14564954	234637943	8561430	8	24959											
C3orf23	285343	hgsc.bcm.edu	37	3	44438258	44438258	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr3:44438258C>T	ENST00000342649.4	+	8	1244	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TCAIM_ENST00000417237.1_Missense_Mutation_p.R273C	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	273						mitochondrion (GO:0005739)		p.R273G(1)									ATTTACAGACCGTTCTGGCAT	0.408																																																1	Substitution - Missense(1)	lung(1)											135	124	128					3																	44438258		2203	4300	6503	SO:0001583	missense	285343				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.817C>T	chr3.hg19:g.44438258C>T	ENSP00000341539:p.Arg273Cys		A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	hg19	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396479	0.62177	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.48201	0.82;0.82	5.6	3.8	0.43715	.	0.255107	0.43747	N	0.000534	T	0.56046	0.1959	L	0.51422	1.61	0.46396	D	0.999026	D	0.89917	1.0	P	0.60682	0.878	T	0.56007	-0.8050	10	0.66056	D	0.02	.	9.6854	0.40096	0.0:0.6626:0.267:0.0703	.	273	Q8N3R3	CC023_HUMAN	C	273	ENSP00000402581:R273C;ENSP00000341539:R273C	ENSP00000341539:R273C	R	+	1	0	C3orf23	44413262	1.000000	0.71417	0.930000	0.37139	0.684000	0.39900	2.565000	0.45939	0.718000	0.32166	0.655000	0.94253	CGT		0.408	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		T	44438258	C	T	44438258	3	4	457	1	0	0	0	0	1	0	0	0	2218	652	23	1	895	1	C3orf23	3	44438258	Missense_Mutation	SNP	C	TCGA-BQ-5881-01A-11D-1589-08		44438258	153584172	9	24960											
CCDC58	131076	hgsc.bcm.edu	37	3	122102042	122102042	+	Silent	SNP	A	A	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr3:122102042A>G	ENST00000291458.5	-	1	36	c.30T>C	c.(28-30)tgT>tgC	p.C10C	CCDC58_ENST00000497726.1_Silent_p.C10C|FAM162A_ENST00000469967.1_5'Flank|FAM162A_ENST00000477892.1_5'Flank|FAM162A_ENST00000232125.5_5'Flank|CCDC58_ENST00000479899.1_5'UTR	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	10						mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		CGAACTCCTCACAGTTCACAC	0.602																																																0													83	73	76					3																	122102042		2203	4300	6503	SO:0001819	synonymous_variant	131076			AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.30T>C	chr3.hg19:g.122102042A>G			Q32LY6	Silent	SNP	ENST00000291458.5	hg19	CCDS33838.1																																																																																				0.602	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355754.1	NM_001017928		G	122102042	A	G	122102042	2	3	457	1	0	0	0	0	0	0	0	1	2830	157	6	3		3	CCDC58	3	122102042	Silent	SNP	A	TCGA-BQ-5881-01A-11D-1589-08	77663784	122102042	75920388	10	24961											
PIK3CB	5291	hgsc.bcm.edu	37	3	138409857	138409857	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr3:138409857A>G	ENST00000477593.1	-	14	2094	c.2021T>C	c.(2020-2022)cTa>cCa	p.L674P	PIK3CB_ENST00000289153.2_Missense_Mutation_p.L674P|PIK3CB_ENST00000544716.1_Missense_Mutation_p.L120P			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	674	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATGCCAAAATAGAAACTGCCC	0.353																																																0													135	140	138					3																	138409857		2203	4300	6503	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2021T>C	chr3.hg19:g.138409857A>G	ENSP00000418143:p.Leu674Pro		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	hg19	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.204435|4.204435	0.79127|0.79127	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.77358|.	-1.09;-1.09;-1.09|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86142|0.86142	0.5862|0.5862	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;0.997;1.0|.	D|D	0.89873|0.89873	0.4024|0.4024	10|5	0.87932|.	D|.	0|.	-9.4984|-9.4984	15.8807|15.8807	0.79201|0.79201	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	674;261;120|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	P|H	674;120;674|306	ENSP00000418143:L674P;ENSP00000438259:L120P;ENSP00000289153:L674P|.	ENSP00000289153:L674P|.	L|Y	-|-	2|1	0|0	PIK3CB|PIK3CB	139892547|139892547	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.983000|0.983000	0.72400|0.72400	9.339000|9.339000	0.96797|0.96797	2.151000|2.151000	0.67156|0.67156	0.533000|0.533000	0.62120|0.62120	CTA|TAT		0.353	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			G	138409857	A	G	138409857	3	3	457	1	0	0	0	0	1	0	0	0	11916	420	15	3	1229	3	PIK3CB	3	138409857	Missense_Mutation	SNP	A	TCGA-BQ-5881-01A-11D-1589-08	16307815	138409857	59612573	11	24962											
PDE6B	5158	hgsc.bcm.edu	37	4	619837	619837	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr4:619837A>C	ENST00000496514.1	+	1	443	c.422A>C	c.(421-423)cAc>cCc	p.H141P	PDE6B_ENST00000255622.6_Missense_Mutation_p.H141P			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	141	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GTCGTGGGCCACGTGGCTCAG	0.642																																					GBM(71;463 1194 9848 25922 46834)											0													22	16	18					4																	619837		2193	4298	6491	SO:0001583	missense	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.422A>C	chr4.hg19:g.619837A>C	ENSP00000420295:p.His141Pro		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	hg19	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.877195	0.72294	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.67523	-0.27;-0.27	4.88	4.88	0.63580	GAF (2);	0.103854	0.64402	D	0.000005	T	0.81418	0.4818	M	0.91406	3.205	0.80722	D	1	D;D	0.55385	0.971;0.964	P;P	0.56865	0.808;0.709	D	0.84544	0.0640	10	0.49607	T	0.09	.	12.4206	0.55518	1.0:0.0:0.0:0.0	.	141;141	P35913;P35913-2	PDE6B_HUMAN;.	P	141	ENSP00000255622:H141P;ENSP00000420295:H141P	ENSP00000255622:H141P	H	+	2	0	PDE6B	609837	0.663000	0.27448	1.000000	0.80357	0.862000	0.49288	5.590000	0.67530	1.845000	0.53610	0.459000	0.35465	CAC		0.642	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		C	619837	A	C	619837	3	2	457	1	0	0	0	0	1	0	0	0	11648	159	6	5	424	5	PDE6B	4	619837	Missense_Mutation	SNP	A	TCGA-BQ-5881-01A-11D-1589-08		619837	190534439	12	24963											
CMYA5	202333	hgsc.bcm.edu	37	5	79032748	79032748	+	Silent	SNP	T	T	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr5:79032748T>C	ENST00000446378.2	+	2	8191	c.8160T>C	c.(8158-8160)acT>acC	p.T2720T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2720					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGAGAAAACTAAGACTTTCC	0.378																																																0													41	41	41					5																	79032748		1825	4074	5899	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8160T>C	chr5.hg19:g.79032748T>C			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	hg19	CCDS47238.1																																																																																				0.378	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79032748	T	C	79032748	2	2	457	1	0	0	0	0	0	0	0	1	3592	1509	53	3		3	CMYA5	5	79032748	Silent	SNP	T	TCGA-BQ-5881-01A-11D-1589-08		79032748	101882512	13	24964											
SCAND3	114821	hgsc.bcm.edu	37	6	28543371	28543371	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr6:28543371C>A	ENST00000452236.2	-	3	1728	c.1111G>T	c.(1111-1113)Gtt>Ttt	p.V371F	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGAACTAACTTCCTTAATT	0.343																																																0													122	124	124					6																	28543371		2203	4300	6503	SO:0001583	missense	114821																														ENST00000452236.2:c.1111G>T	chr6.hg19:g.28543371C>A	ENSP00000395259:p.Val371Phe			Missense_Mutation	SNP	ENST00000452236.2	hg19	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208100	0.58343	.	.	ENSG00000232040	ENST00000452236	T	0.01474	4.85	3.45	2.58	0.30949	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.01320	0.0043	L	0.29908	0.895	0.27530	N	0.951136	D	0.69078	0.997	D	0.63488	0.915	T	0.54337	-0.8309	9	0.23891	T	0.37	.	6.9505	0.24542	0.0:0.8705:0.0:0.1295	.	371	Q6R2W3	SCND3_HUMAN	F	371	ENSP00000395259:V371F	ENSP00000395259:V371F	V	-	1	0	SCAND3	28651350	0.993000	0.37304	0.998000	0.56505	0.998000	0.95712	0.080000	0.14802	0.789000	0.33779	0.655000	0.94253	GTT		0.343	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			A	28543371	C	A	28543371	3	1	457	1	0	0	0	0	1	0	0	0	13882	565	20	4	2874	4	SCAND3	6	28543371	Missense_Mutation	SNP	C	TCGA-BQ-5881-01A-11D-1589-08		28543371	142571696	14	24965											
BAT5	7920	hgsc.bcm.edu	37	6	31655645	31655646	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr6:31655645_31655646insG	ENST00000395952.3	-	17	1564_1565	c.1402_1403insC	c.(1402-1404)cgafs	p.R468fs	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000440843.2_Frame_Shift_Ins_p.R435fs|ABHD16A_ENST00000375842.4_Frame_Shift_Ins_p.R249fs	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	468						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CCTCACCACTCGAAGACCCTCC	0.594																																																0																																										SO:0001589	frameshift_variant	7920			AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.1403dupC	chr6.hg19:g.31655646_31655646dupG	ENSP00000379282:p.Arg468fs		A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Frame_Shift_Ins	INS	ENST00000395952.3	hg19	CCDS4713.1																																																																																				0.594	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			G	31655646	-	G	31655645	7	5	457	1	0	1	1	0	0	0	0	0	1324	884	31	0	289	0	BAT5	6	31655645	Frame_Shift_Ins	INS	-	TCGA-BQ-5881-01A-11D-1589-08	3112274	31655645	139459422	15	24966											
INTS1	26173	hgsc.bcm.edu	37	7	1535858	1535858	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr7:1535858T>C	ENST00000404767.3	-	12	1730	c.1645A>G	c.(1645-1647)Atg>Gtg	p.M549V	INTS1_ENST00000389470.4_Missense_Mutation_p.M677V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	549					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCCAGCATCATGGACACGGCC	0.632																																																0													84	95	91					7																	1535858		2106	4225	6331	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1645A>G	chr7.hg19:g.1535858T>C	ENSP00000385722:p.Met549Val		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	hg19	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.730230	0.69074	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47528	0.84;0.85	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.52011	1.625	0.80722	D	1	P	0.39044	0.656	B	0.42361	0.385	T	0.47509	-0.9112	10	0.41790	T	0.15	.	14.7485	0.69508	0.0:0.0:0.0:1.0	.	549	Q8N201	INT1_HUMAN	V	549;677	ENSP00000385722:M549V;ENSP00000374121:M677V	ENSP00000374121:M677V	M	-	1	0	INTS1	1502384	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.866000	0.87056	1.897000	0.54924	0.533000	0.62120	ATG		0.632	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			C	1535858	T	C	1535858	3	2	457	1	0	0	0	0	1	0	0	0	7777	1464	51	3	5075	3	INTS1	7	1535858	Missense_Mutation	SNP	T	TCGA-BQ-5881-01A-11D-1589-08		1535858	157602805	16	24967											
PTPRZ1	5803	hgsc.bcm.edu	37	7	121668665	121668665	+	Missense_Mutation	SNP	C	C	A	rs368834797		TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr7:121668665C>A	ENST00000393386.2	+	14	5459	c.5048C>A	c.(5047-5049)tCc>tAc	p.S1683Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S823Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1683					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGAGTTATATCCACACCTCCA	0.383																																																0													184	155	165					7																	121668665		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5048C>A	chr7.hg19:g.121668665C>A	ENSP00000377047:p.Ser1683Tyr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480370	0.84747	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.79141	0.76;-1.24	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	D	0.84880	0.5570	L	0.46157	1.445	0.53688	D	0.999977	D;D;P	0.67145	0.996;0.97;0.95	D;P;P	0.65874	0.939;0.682;0.736	D	0.84173	0.0435	10	0.51188	T	0.08	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	822;823;1683	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	Y	1683;823	ENSP00000377047:S1683Y;ENSP00000410000:S823Y	ENSP00000377047:S1683Y	S	+	2	0	PTPRZ1	121455901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.356000	0.79445	2.751000	0.94390	0.650000	0.86243	TCC		0.383	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121668665	C	A	121668665	3	1	457	1	0	0	0	0	1	0	0	0	12820	855	30	4	5102	4	PTPRZ1	7	121668665	Missense_Mutation	SNP	C	TCGA-BQ-5881-01A-11D-1589-08	120132807	121668665	37469998	17	24968											
SVEP1	79987	hgsc.bcm.edu	37	9	113259109	113259109	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr9:113259109T>C	ENST00000401783.2	-	8	2122	c.1786A>G	c.(1786-1788)Aac>Gac	p.N596D	SVEP1_ENST00000302728.8_Missense_Mutation_p.N596D|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.N573D|SVEP1_ENST00000374461.1_Missense_Mutation_p.N573D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	596	HYR 1. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCACCAGAGTTGTCTTTAGCT	0.398																																																0													115	107	109					9																	113259109		1881	4083	5964	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1786A>G	chr9.hg19:g.113259109T>C	ENSP00000384917:p.Asn596Asp		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505631	0.85282	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.71	5.71	0.89125	Hyalin (2);	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.90759	3.145	0.38327	D	0.943687	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.87578	0.995;0.998;0.99	T	0.71155	-0.4675	10	0.72032	D	0.01	.	14.9529	0.71088	0.0:0.0:0.0:1.0	.	596;596;596	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	D	596;573;596;573	ENSP00000384917:N596D;ENSP00000363593:N573D;ENSP00000304118:N596D;ENSP00000363585:N573D	ENSP00000304118:N596D	N	-	1	0	SVEP1	112298930	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.259000	0.72494	2.181000	0.69327	0.477000	0.44152	AAC		0.398	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113259109	T	C	113259109	3	2	457	1	0	0	0	0	1	0	0	0	15425	1812	63	3	9093	3	SVEP1	9	113259109	Missense_Mutation	SNP	T	TCGA-BQ-5881-01A-11D-1589-08		113259109	27954322	18	24969											
INTS5	80789	hgsc.bcm.edu	37	11	62417117	62417117	+	Silent	SNP	A	A	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr11:62417117A>G	ENST00000330574.2	-	2	487	c.435T>C	c.(433-435)agT>agC	p.S145S		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	145					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TGGACCATGCACTAATCACAG	0.572																																																0													108	107	107					11																	62417117		2202	4299	6501	SO:0001819	synonymous_variant	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.435T>C	chr11.hg19:g.62417117A>G			Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	hg19	CCDS8027.1																																																																																				0.572	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		G	62417117	A	G	62417117	2	3	457	1	0	0	0	0	0	0	0	1	7783	156	6	3		3	INTS5	11	62417117	Silent	SNP	A	TCGA-BQ-5881-01A-11D-1589-08		62417117	72589399	19	24970											
ARAP1	116985	hgsc.bcm.edu	37	11	72423355	72423355	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr11:72423355A>G	ENST00000393609.3	-	7	1110	c.908T>C	c.(907-909)tTg>tCg	p.L303S	ARAP1_ENST00000426523.1_Missense_Mutation_p.L58S|ARAP1_ENST00000455638.2_Missense_Mutation_p.L303S|ARAP1_ENST00000429686.1_Missense_Mutation_p.L58S|ARAP1_ENST00000359373.5_Missense_Mutation_p.L303S|ARAP1_ENST00000334211.8_Missense_Mutation_p.L58S|ARAP1_ENST00000393605.3_Missense_Mutation_p.L63S	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	303					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGGCAAGGACAAGCTCAGGCT	0.672																																					Ovarian(102;1198 1520 13195 17913 37529)											0													28	28	28					11																	72423355		2200	4293	6493	SO:0001583	missense	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.908T>C	chr11.hg19:g.72423355A>G	ENSP00000377233:p.Leu303Ser		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	hg19	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	A	0.304	-0.971901	0.02215	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	4.44	2.14	0.27477	.	0.724250	0.11919	N	0.516857	T	0.05135	0.0137	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.43621	-0.9380	10	0.07990	T	0.79	.	8.6422	0.33983	0.16:0.0:0.84:0.0	.	58;58;303;303;63	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	S	303;303;63;58;303;58;58;92	ENSP00000352332:L303S;ENSP00000390461:L303S;ENSP00000377230:L63S;ENSP00000335506:L58S;ENSP00000377233:L303S;ENSP00000392264:L58S;ENSP00000403127:L58S	ENSP00000335506:L58S	L	-	2	0	ARAP1	72101003	0.145000	0.22656	0.008000	0.14137	0.081000	0.17604	0.839000	0.27586	0.330000	0.23485	0.459000	0.35465	TTG		0.672	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		G	72423355	A	G	72423355	3	3	457	1	0	0	0	0	1	0	0	0	838	131	5	3	3560	3	ARAP1	11	72423355	Missense_Mutation	SNP	A	TCGA-BQ-5881-01A-11D-1589-08	10006238	72423355	62583161	20	24971											
ZW10	9183	hgsc.bcm.edu	37	11	113628545	113628545	+	Missense_Mutation	SNP	G	G	A	rs377079908		TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr11:113628545G>A	ENST00000200135.3	-	7	908	c.764C>T	c.(763-765)cCg>cTg	p.P255L		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	255	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AGATGCCAGCGGCCTAAGGAT	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18410	0.0		0.0	False		,,,				2504	0.0															0								G	LEU/PRO	0,4402		0,0,2201	66	69	68		764	5.5	1	11		68	1,8591	1.2+/-3.3	0,1,4295	no	missense	ZW10	NM_004724.3	98	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	255/780	113628545	1,12993	2201	4296	6497	SO:0001583	missense	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.764C>T	chr11.hg19:g.113628545G>A	ENSP00000200135:p.Pro255Leu		A1A528	Missense_Mutation	SNP	ENST00000200135.3	hg19	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921357	0.73213	0.0	1.16E-4	ENSG00000086827	ENST00000200135	T	0.64438	-0.1	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	L	0.53249	1.67	0.80722	D	1	P	0.43857	0.819	B	0.41374	0.355	T	0.68330	-0.5437	10	0.87932	D	0	-10.4182	18.3058	0.90180	0.0:0.0:1.0:0.0	.	255	O43264	ZW10_HUMAN	L	255	ENSP00000200135:P255L	ENSP00000200135:P255L	P	-	2	0	ZW10	113133755	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	8.079000	0.89508	2.571000	0.86741	0.650000	0.86243	CCG		0.403	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		A	113628545	G	A	113628545	3	1	457	1	0	0	0	0	1	0	0	0	18252	1116	39	1	1615	1	ZW10	11	113628545	Missense_Mutation	SNP	G	TCGA-BQ-5881-01A-11D-1589-08	41205190	113628545	21377971	21	24972											
AKAP6	9472	hgsc.bcm.edu	37	14	33204952	33204952	+	Missense_Mutation	SNP	T	T	A	rs201928179		TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr14:33204952T>A	ENST00000280979.4	+	11	3406	c.3236T>A	c.(3235-3237)cTg>cAg	p.L1079Q	AKAP6_ENST00000557272.1_Missense_Mutation_p.L1079Q	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1079					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTGGAAGCCTGGTAAGGCAG	0.488																																					Melanoma(49;821 1200 7288 13647 42351)											0													70	72	71					14																	33204952		2203	4300	6503	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3236T>A	chr14.hg19:g.33204952T>A	ENSP00000280979:p.Leu1079Gln		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981383	0.74474	.	.	ENSG00000151320	ENST00000280979;ENST00000557272	T;T	0.22539	3.18;1.95	5.7	4.54	0.55810	.	0.118007	0.37809	N	0.001926	T	0.26629	0.0651	N	0.14661	0.345	0.44000	D	0.996707	D	0.71674	0.998	D	0.63488	0.915	T	0.07385	-1.0775	10	0.62326	D	0.03	-5.2892	12.8687	0.57953	0.0:0.0:0.1363:0.8637	.	1079	Q13023	AKAP6_HUMAN	Q	1079	ENSP00000280979:L1079Q;ENSP00000451247:L1079Q	ENSP00000280979:L1079Q	L	+	2	0	AKAP6	32274703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.041000	0.76558	0.961000	0.38030	0.477000	0.44152	CTG		0.488	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		A	33204952	T	A	33204952	3	1	457	1	0	0	0	0	1	0	0	0	455	1580	55	5	3274	5	AKAP6	14	33204952	Missense_Mutation	SNP	T	TCGA-BQ-5881-01A-11D-1589-08		33204952	74144588	22	24973											
DAAM1	23002	hgsc.bcm.edu	37	14	59791109	59791109	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr14:59791109T>A	ENST00000395125.1	+	7	949	c.926T>A	c.(925-927)cTg>cAg	p.L309Q	DAAM1_ENST00000360909.3_Missense_Mutation_p.L309Q|DAAM1_ENST00000351081.1_Missense_Mutation_p.L309Q	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	309	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TATGAATTTCTGATGTTAGGA	0.308																																																0													87	91	90					14																	59791109		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.926T>A	chr14.hg19:g.59791109T>A	ENSP00000378557:p.Leu309Gln		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	hg19	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.330005	0.60743	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.84516	-1.86;-1.86;-1.86	5.17	4.01	0.46588	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.80508	2.5	0.80722	D	1	P;P	0.45634	0.835;0.863	P;P	0.49140	0.466;0.601	D	0.88524	0.3098	10	0.62326	D	0.03	.	12.2246	0.54453	0.0:0.0:0.1426:0.8574	.	309;309	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	Q	309	ENSP00000354162:L309Q;ENSP00000247170:L309Q;ENSP00000378557:L309Q	ENSP00000247170:L309Q	L	+	2	0	DAAM1	58860862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.841000	0.86834	0.965000	0.38133	0.533000	0.62120	CTG		0.308	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		A	59791109	T	A	59791109	3	1	457	1	0	0	0	0	1	0	0	0	4217	1580	55	5	952	5	DAAM1	14	59791109	Missense_Mutation	SNP	T	TCGA-BQ-5881-01A-11D-1589-08	26586157	59791109	47558431	23	24974											
MGA	23269	hgsc.bcm.edu	37	15	42005411	42005411	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr15:42005411T>A	ENST00000570161.1	+	8	3147	c.3147T>A	c.(3145-3147)aaT>aaA	p.N1049K	MGA_ENST00000389936.4_Missense_Mutation_p.N1049K|MGA_ENST00000545763.1_Missense_Mutation_p.N1049K|MGA_ENST00000219905.7_Missense_Mutation_p.N1049K|MGA_ENST00000566586.1_Missense_Mutation_p.N1049K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGCAACAATGACTTCTGTC	0.463																																																0													156	153	154					15																	42005411		1992	4139	6131	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3147T>A	chr15.hg19:g.42005411T>A	ENSP00000457035:p.Asn1049Lys		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762234	0.49468	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.16457	2.34;2.34;2.34	5.75	3.24	0.37175	.	0.270326	0.40144	N	0.001172	T	0.15739	0.0379	N	0.14661	0.345	0.36995	D	0.894984	P;P	0.50272	0.933;0.533	P;B	0.56865	0.808;0.305	T	0.15983	-1.0418	10	0.44086	T	0.13	.	4.9526	0.14023	0.1341:0.1556:0.0:0.7103	.	1049;1049	F5H7K2;E7ENI0	.;.	K	1049	ENSP00000219905:N1049K;ENSP00000374586:N1049K;ENSP00000442467:N1049K	ENSP00000219905:N1049K	N	+	3	2	MGA	39792703	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.237000	0.17985	0.882000	0.36016	0.533000	0.62120	AAT		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		A	42005411	T	A	42005411	3	1	457	1	0	0	0	0	1	0	0	0	9542	1461	51	5	3177	5	MGA	15	42005411	Missense_Mutation	SNP	T	TCGA-BQ-5881-01A-11D-1589-08		42005411	60525981	24	24975											
VPS13C	54832	hgsc.bcm.edu	37	15	62167108	62167108	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr15:62167108T>A	ENST00000261517.5	-	77	10454	c.10381A>T	c.(10381-10383)Att>Ttt	p.I3461F	VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395898.3_Missense_Mutation_p.I3418F|VPS13C_ENST00000249837.3_Missense_Mutation_p.I3418F|VPS13C_ENST00000395896.4_Missense_Mutation_p.I3461F	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTCACTCCAATCACTAACCCC	0.303																																																0													104	104	104					15																	62167108		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10381A>T	chr15.hg19:g.62167108T>A	ENSP00000261517:p.Ile3461Phe			Missense_Mutation	SNP	ENST00000261517.5	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404605	0.83230	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.43294	0.95;0.95;1.12	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.69078	0.978;0.995;0.997;0.997	D;D;D;D	0.71656	0.923;0.962;0.974;0.92	T	0.56511	-0.7967	10	0.54805	T	0.06	.	16.1946	0.82018	0.0:0.0:0.0:1.0	.	3418;3461;3418;3461	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	F	3418;3461;3461;3461	ENSP00000249837:I3418F;ENSP00000261517:I3461F;ENSP00000379233:I3461F	ENSP00000249837:I3418F	I	-	1	0	VPS13C	59954400	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.402000	0.59722	2.228000	0.72767	0.528000	0.53228	ATT		0.303	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		A	62167108	T	A	62167108	3	1	457	1	0	0	0	0	1	0	0	0	17196	1435	50	5	944	5	VPS13C	15	62167108	Missense_Mutation	SNP	T	TCGA-BQ-5881-01A-11D-1589-08	20161697	62167108	40364284	25	24976											
TP53	7157	hgsc.bcm.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	G	rs121912666		TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr17:7578190T>G	ENST00000269305.4	-	6	848	c.659A>C	c.(658-660)tAt>tCt	p.Y220S	TP53_ENST00000413465.2_Missense_Mutation_p.Y220S|TP53_ENST00000420246.2_Missense_Mutation_p.Y220S|TP53_ENST00000455263.2_Missense_Mutation_p.Y220S|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220S|TP53_ENST00000445888.2_Missense_Mutation_p.Y220S	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>C	chr17.hg19:g.7578190T>G	ENSP00000269305:p.Tyr220Ser		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	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447753	0.84101	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	A	1	D;D;D;D;D;D;D	0.89917	1.0;0.994;0.997;1.0;0.995;0.968;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.921;0.963;1.0;0.977;0.926;1.0	D	0.96735	0.9542	9	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220S;ENSP00000352610:Y220S;ENSP00000269305:Y220S;ENSP00000398846:Y220S;ENSP00000391127:Y220S;ENSP00000391478:Y220S;ENSP00000425104:Y88S;ENSP00000423862:Y127S	ENSP00000269305:Y220S	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		G	7578190	T	G	7578190	3	3	457	1	0	0	0	0	1	0	0	0	16386	1406	49	5	635	5	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-BQ-5881-01A-11D-1589-08		7578190	73617020	26	24977											
CHAD	1101	hgsc.bcm.edu	37	17	48546019	48546019	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr17:48546019C>A	ENST00000508540.1	-	1	308	c.156G>T	c.(154-156)aaG>aaT	p.K52N	ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.K52N|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	52	LRRNT.				bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGCTTGGTCTTCTCTGACA	0.622																																																0													92	77	82					17																	48546019		2203	4300	6503	SO:0001583	missense	1101			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.156G>T	chr17.hg19:g.48546019C>A	ENSP00000423812:p.Lys52Asn		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	hg19	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	9.129	1.010904	0.19277	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.04015	3.73;3.73	4.31	2.29	0.28610	Leucine-rich repeat-containing N-terminal (1);	0.490348	0.23123	N	0.051679	T	0.01835	0.0058	N	0.04018	-0.295	0.28724	N	0.902844	B	0.17465	0.022	B	0.14578	0.011	T	0.45086	-0.9285	10	0.09084	T	0.74	.	4.7213	0.12920	0.1537:0.601:0.0:0.2453	.	52	O15335	CHAD_HUMAN	N	52	ENSP00000423812:K52N;ENSP00000258969:K52N	ENSP00000258969:K52N	K	-	3	2	CHAD	45901018	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	1.268000	0.33062	0.442000	0.26555	0.462000	0.41574	AAG		0.622	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		A	48546019	C	A	48546019	3	1	457	1	0	0	0	0	1	0	0	0	3312	912	32	4	935	4	CHAD	17	48546019	Missense_Mutation	SNP	C	TCGA-BQ-5881-01A-11D-1589-08	40967829	48546019	32649191	27	24978											
ZNF559	84527	hgsc.bcm.edu	37	19	9452840	9452840	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr19:9452840delA	ENST00000393883.2	+	6	1361	c.713delA	c.(712-714)gaafs	p.E238fs	ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Frame_Shift_Del_p.E158fs|ZNF559_ENST00000603380.1_Frame_Shift_Del_p.E238fs|ZNF177_ENST00000541595.2_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Frame_Shift_Del_p.E302fs|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CAAGATGGAGAAAAATTCTAT	0.363																																																0													77	79	79					19																	9452840		2201	4300	6501	SO:0001589	frameshift_variant	84527			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.713delA	chr19.hg19:g.9452840delA	ENSP00000377461:p.Glu238fs		K7EMG6	Frame_Shift_Del	DEL	ENST00000393883.2	hg19	CCDS12211.1																																																																																				0.363	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		-	9452840	A	-	9452840	7	5	457	1	0	1	0	1	0	0	0	0	17995	246	9	0	727	0	ZNF559	19	9452840	Frame_Shift_Del	DEL	A	TCGA-BQ-5881-01A-11D-1589-08		9452840	49676143	28	24979											
RBPJL	11317	hgsc.bcm.edu	37	20	43940944	43940944	+	Silent	SNP	C	C	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr20:43940944C>T	ENST00000343694.3	+	6	600	c.528C>T	c.(526-528)cgC>cgT	p.R176R	RBPJL_ENST00000372741.3_Silent_p.R176R|RBPJL_ENST00000372743.1_Silent_p.R176R	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	176					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				tggtgctgcgCGGGGGCCGGG	0.602																																																0													28	31	30					20																	43940944		2203	4300	6503	SO:0001819	synonymous_variant	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.528C>T	chr20.hg19:g.43940944C>T			O95723|Q5QPU9|Q5QPV0|Q9ULV9	Silent	SNP	ENST00000343694.3	hg19	CCDS13349.1																																																																																				0.602	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		T	43940944	C	T	43940944	2	4	457	1	0	0	0	0	0	0	0	1	13168	755	27	1		1	RBPJL	20	43940944	Silent	SNP	C	TCGA-BQ-5881-01A-11D-1589-08		43940944	19084576	29	24980											
TOP3B	8940	hgsc.bcm.edu	37	22	22327036	22327036	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr22:22327036G>T	ENST00000398793.2	-	4	691	c.257C>A	c.(256-258)cCc>cAc	p.P86H	TOP3B_ENST00000357179.5_Missense_Mutation_p.P86H|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	86	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CTTCTCCGTGGGAGCTTGGCT	0.562											OREG0026347	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													155	123	134					22																	22327036		2203	4300	6503	SO:0001583	missense	8940			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.257C>A	chr22.hg19:g.22327036G>T	ENSP00000381773:p.Pro86His	755	A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	hg19	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372315	0.82573	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000449517;ENST00000424393;ENST00000437929;ENST00000430142	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.0	3.97	0.46021	DNA topoisomerase, type IA, core domain (1);Toprim domain (2);	0.052237	0.85682	D	0.000000	T	0.47563	0.1452	H	0.94620	3.56	0.80722	D	1	P	0.41848	0.763	P	0.48030	0.564	T	0.65166	-0.6234	10	0.87932	D	0	-8.5874	15.6079	0.76689	0.0:0.1378:0.8622:0.0	.	86	O95985	TOP3B_HUMAN	H	86	ENSP00000349705:P86H;ENSP00000381773:P86H;ENSP00000390977:P86H;ENSP00000402622:P86H;ENSP00000414538:P86H	ENSP00000349705:P86H	P	-	2	0	TOP3B	20657036	1.000000	0.71417	0.432000	0.26747	0.906000	0.53458	9.361000	0.97122	1.317000	0.45149	0.563000	0.77884	CCC		0.562	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		T	22327036	G	T	22327036	3	4	457	1	0	0	0	0	1	0	0	0	16373	1232	43	4	2391	4	TOP3B	22	22327036	Missense_Mutation	SNP	G	TCGA-BQ-5881-01A-11D-1589-08		22327036	28977530	30	24981											
CABIN1	23523	hgsc.bcm.edu	37	22	24483456	24483456	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr22:24483456C>A	ENST00000398319.2	+	23	3700	c.3315C>A	c.(3313-3315)gaC>gaA	p.D1105E	CABIN1_ENST00000263119.5_Missense_Mutation_p.D1105E|CABIN1_ENST00000405822.2_Missense_Mutation_p.D1055E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1105					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCATTCAGGACAAGCTGAACT	0.547																																																0													70	64	66					22																	24483456		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3315C>A	chr22.hg19:g.24483456C>A	ENSP00000381364:p.Asp1105Glu		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	hg19	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149010	0.57151	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75477	-0.94;-0.94;-0.94	5.1	1.91	0.25777	Tetratricopeptide-like helical (1);	0.055118	0.64402	D	0.000001	T	0.54111	0.1838	L	0.27053	0.805	0.80722	D	1	P;P	0.40619	0.724;0.603	B;B	0.34452	0.183;0.089	T	0.42899	-0.9424	10	0.23302	T	0.38	.	9.3964	0.38406	0.0:0.7705:0.0:0.2295	.	1055;1105	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	E	1105;1055;1105	ENSP00000263119:D1105E;ENSP00000384694:D1055E;ENSP00000381364:D1105E	ENSP00000263119:D1105E	D	+	3	2	CABIN1	22813456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.242000	0.32755	0.299000	0.22661	0.650000	0.86243	GAC		0.547	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24483456	C	A	24483456	3	1	457	1	0	0	0	0	1	0	0	0	2530	477	17	4	3401	4	CABIN1	22	24483456	Missense_Mutation	SNP	C	TCGA-BQ-5881-01A-11D-1589-08	2156420	24483456	26821110	31	24982											
DDX53	168400	hgsc.bcm.edu	37	X	23019108	23019108	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chrX:23019108G>A	ENST00000327968.5	+	1	1022	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	312	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GGCTCTTCACGTGGAAGCTGA	0.408													G|||	1	0.000264901	0.0008	0.0	3775	,	,		16112	0.0		0.0	False		,,,				2504	0.0															0													74	73	73					X																	23019108		2203	4300	6503	SO:0001583	missense	168400			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.934G>A	chrX.hg19:g.23019108G>A	ENSP00000368667:p.Val312Met		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	hg19	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	9.356	1.066739	0.20067	.	.	ENSG00000184735	ENST00000327968	T	0.05139	3.49	4.3	1.28	0.21552	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.300009	0.31370	N	0.007767	T	0.24586	0.0596	M	0.91920	3.255	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02877	-1.1099	10	0.87932	D	0	-6.7638	4.8973	0.13757	0.2269:0.1801:0.593:0.0	.	312	Q86TM3	DDX53_HUMAN	M	312	ENSP00000368667:V312M	ENSP00000368667:V312M	V	+	1	0	DDX53	22929029	1.000000	0.71417	0.029000	0.17559	0.023000	0.10783	2.224000	0.42945	0.759000	0.33084	0.600000	0.82982	GTG		0.408	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		A	23019108	G	A	23019108	3	1	457	1	0	0	0	0	1	0	0	0	4373	1145	40	1	936	1	DDX53	23	23019108	Missense_Mutation	SNP	G	TCGA-BQ-5881-01A-11D-1589-08		23019108	132251452	32	24983											
ZBTB8OS	339487	hgsc.bcm.edu	37	1	33099257	33099257	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:33099257A>C	ENST00000468695.1	-	4	370	c.352T>G	c.(352-354)Ttc>Gtc	p.F118V	ZBTB8OS_ENST00000373501.2_Missense_Mutation_p.F106V|ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000341885.5_Intron	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	106					tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	extracellular vesicular exosome (GO:0070062)|tRNA-splicing ligase complex (GO:0072669)	metal ion binding (GO:0046872)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGGGGTATGAAGAATTCATCA	0.313																																																0													52	56	55					1																	33099257		2203	4296	6499	SO:0001583	missense	339487			AY151084	CCDS365.1	1p35.1	2010-09-30			ENSG00000176261	ENSG00000176261			24094	protein-coding gene	gene with protein product	"archease"	615891				12477932	Standard	NM_178547		Approved	ARCH	uc001bvp.3	Q8IWT0	OTTHUMG00000007856	ENST00000468695.1:c.352T>G	chr1.hg19:g.33099257A>C	ENSP00000417677:p.Phe118Val		Q5TGK5|Q6PDA1|Q8IWS9|Q8NEV6|Q8NEV7	Missense_Mutation	SNP	ENST00000468695.1	hg19	CCDS365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.225490|4.225490	0.79576|0.79576	.|.	.|.	ENSG00000176261|ENSG00000176261	ENST00000468695;ENST00000373501|ENST00000436661	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72431|0.72431	0.3459|0.3459	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	P;D|.	0.89917|.	0.712;1.0|.	P;D|.	0.87578|.	0.525;0.998|.	T|T	0.73855|0.73855	-0.3851|-0.3851	9|5	0.07990|.	T|.	0.79|.	-14.6218|-14.6218	10.1989|10.1989	0.43071|0.43071	0.8518:0.0:0.0:0.1482|0.8518:0.0:0.0:0.1482	.|.	106;118|.	Q8IWT0-2;A8K0B5|.	.;.|.	V|R	118;106|116	.|.	ENSP00000362600:F106V|.	F|L	-|-	1|2	0|0	ZBTB8OS|ZBTB8OS	32871844|32871844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.227000|7.227000	0.78070|0.78070	2.180000|2.180000	0.69256|0.69256	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.313	ZBTB8OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021669.3	NM_178547		C	33099257	A	C	33099257	3	2	458	1	0	0	0	0	1	0	0	0	17562	72	3	5	203	5	ZBTB8OS	1	33099257	Missense_Mutation	SNP	A	TCGA-BQ-5882-01A-11D-1589-08		33099257	216151364	1	24984											
RLF	6018	hgsc.bcm.edu	37	1	40701983	40701983	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:40701983G>A	ENST00000372771.4	+	8	1636	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	537					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGAGAAAAGAGACAAAAAACC	0.358																																																0													65	70	68					1																	40701983		2199	4298	6497	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1609G>A	chr1.hg19:g.40701983G>A	ENSP00000361857:p.Asp537Asn		Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	hg19	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710822	0.48517	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.36699	1.24	6.07	6.07	0.98685	.	0.378317	0.33144	N	0.005225	T	0.42877	0.1222	L	0.40543	1.245	0.37876	D	0.930215	B;D	0.67145	0.23;0.996	B;P	0.56216	0.064;0.794	T	0.15983	-1.0418	10	0.18710	T	0.47	-14.4249	14.7663	0.69642	0.0684:0.0:0.9316:0.0	.	230;537	F5H2M5;Q13129	.;RLF_HUMAN	N	537;230	ENSP00000361857:D537N	ENSP00000361857:D537N	D	+	1	0	RLF	40474570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.802000	0.47916	2.885000	0.99019	0.655000	0.94253	GAC		0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		A	40701983	G	A	40701983	3	1	458	1	0	0	0	0	1	0	0	0	13395	942	33	2	1639	2	RLF	1	40701983	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	7602726	40701983	208548638	2	24985											
TMEM53	79639	hgsc.bcm.edu	37	1	45120714	45120714	+	Silent	SNP	G	G	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:45120714G>T	ENST00000372237.3	-	3	514	c.351C>A	c.(349-351)gtC>gtA	p.V117V	TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372242.3_Silent_p.V117V|TMEM53_ENST00000372235.3_Silent_p.V87V|TMEM53_ENST00000372244.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	117						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GGTACAGCATGACGCCACCGT	0.577											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													60	62	62					1																	45120714		2203	4300	6503	SO:0001819	synonymous_variant	79639				CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.351C>A	chr1.hg19:g.45120714G>T		929	B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Silent	SNP	ENST00000372237.3	hg19	CCDS511.1																																																																																				0.577	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		T	45120714	G	T	45120714	2	4	458	1	0	0	0	0	0	0	0	1	16184	1277	45	4		4	TMEM53	1	45120714	Silent	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	4418731	45120714	204129907	3	24986											
DAP3	7818	hgsc.bcm.edu	37	1	155695184	155695185	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:155695184_155695185insA	ENST00000368336.5	+	5	406_407	c.282_283insA	c.(283-285)agtfs	p.S95fs	DAP3_ENST00000535183.1_Frame_Shift_Ins_p.S54fs|DAP3_ENST00000496863.1_3'UTR|DAP3_ENST00000471642.2_Frame_Shift_Ins_p.S54fs|DAP3_ENST00000421487.2_Frame_Shift_Ins_p.S61fs|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Frame_Shift_Ins_p.S95fs	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	95					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGAAGACATTCAGTGAAGCTTG	0.45																																																0																																										SO:0001589	frameshift_variant	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.283dupA	chr1.hg19:g.155695185_155695185dupA	ENSP00000357320:p.Ser95fs		B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Frame_Shift_Ins	INS	ENST00000368336.5	hg19	CCDS1120.1																																																																																				0.45	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		A	155695185	-	A	155695184	7	5	458	1	0	1	1	0	0	0	0	0	4236	825	29	0	296	0	DAP3	1	155695184	Frame_Shift_Ins	INS	-	TCGA-BQ-5882-01A-11D-1589-08	110574470	155695184	93555437	4	24987	192	2									
DAP3	7818	hgsc.bcm.edu	37	1	155695186	155695186	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:155695186G>A	ENST00000368336.5	+	5	408	c.284G>A	c.(283-285)aGt>aAt	p.S95N	DAP3_ENST00000535183.1_Missense_Mutation_p.S54N|DAP3_ENST00000496863.1_3'UTR|DAP3_ENST00000471642.2_Missense_Mutation_p.S54N|DAP3_ENST00000421487.2_Missense_Mutation_p.S61N|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.S95N	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	95					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AAGACATTCAGTGAAGCTTGC	0.453																																																0													187	174	178					1																	155695186		2203	4300	6503	SO:0001583	missense	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.284G>A	chr1.hg19:g.155695186G>A	ENSP00000357320:p.Ser95Asn		B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	hg19	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.629646	0.00813	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.40756	1.03;1.03;1.06;1.02	5.65	-2.53	0.06326	.	0.680865	0.15179	N	0.276217	T	0.01835	0.0058	N	0.00114	-2.085	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.46665	-0.9175	10	0.02654	T	1	0.0	11.3623	0.49651	0.6267:0.0:0.3733:0.0	.	54;61;61;95	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	N	95;95;61;54	ENSP00000357320:S95N;ENSP00000341692:S95N;ENSP00000412605:S61N;ENSP00000445003:S54N	ENSP00000341692:S95N	S	+	2	0	DAP3	153961810	0.928000	0.31464	0.005000	0.12908	0.078000	0.17371	1.904000	0.39868	-0.315000	0.08703	-0.136000	0.14681	AGT		0.453	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		A	155695186	G	A	155695186	3	1	458	1	0	0	0	0	1	0	0	0	4236	1029	36	2	298	2	DAP3	1	155695186	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	2	155695186	93555435	5	24988	192	2									
TIPRL	261726	hgsc.bcm.edu	37	1	168168189	168168189	+	Silent	SNP	G	G	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:168168189G>A	ENST00000367833.2	+	6	790	c.645G>A	c.(643-645)acG>acA	p.T215T		NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	215	Interaction with PPP2CA.				DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GAGAATATACGTCACGAGAAA	0.259																																																0													56	60	59					1																	168168189		2200	4299	6499	SO:0001819	synonymous_variant	261726			AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.645G>A	chr1.hg19:g.168168189G>A			B2R8V3|Q5HYB2|Q8IZ86	Silent	SNP	ENST00000367833.2	hg19	CCDS1270.1																																																																																				0.259	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902		A	168168189	G	A	168168189	2	1	458	1	0	0	0	0	0	0	0	1	15931	1132	40	1		1	TIPRL	1	168168189	Silent	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	12473003	168168189	81082432	6	24989											
RFWD2	64326	hgsc.bcm.edu	37	1	175914297	175914297	+	Silent	SNP	A	A	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:175914297A>G	ENST00000367669.3	-	20	2702	c.2188T>C	c.(2188-2190)Ttg>Ctg	p.L730L	RFWD2_ENST00000308769.8_Silent_p.L706L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	730					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTCATACCAATTCTAGCACC	0.318																																					Ovarian(134;1413 1765 5706 35534 51541)											0													49	44	46					1																	175914297		2203	4300	6503	SO:0001819	synonymous_variant	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.2188T>C	chr1.hg19:g.175914297A>G			E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	hg19	CCDS30944.1																																																																																				0.318	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		G	175914297	A	G	175914297	2	3	458	1	0	0	0	0	0	0	0	1	13266	98	4	3		3	RFWD2	1	175914297	Silent	SNP	A	TCGA-BQ-5882-01A-11D-1589-08	7746108	175914297	73336324	7	24990											
KLHDC8A	55220	hgsc.bcm.edu	37	1	205312513	205312513	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:205312513C>T	ENST00000367156.3	-	5	1036	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.V74I|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.V74I|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000606529.1_5'Flank	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	74										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGGGCGGTGACGGCCACCCCC	0.672																																																0													61	64	63					1																	205312513		2203	4300	6503	SO:0001583	missense	55220				CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.220G>A	chr1.hg19:g.205312513C>T	ENSP00000356124:p.Val74Ile		B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	hg19	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.040035	0.55003	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253	T;T;T	0.80304	-1.36;-1.36;-1.36	5.65	4.73	0.59995	Kelch-type beta propeller (1);	0.190308	0.45361	N	0.000376	T	0.78065	0.4225	M	0.72576	2.205	0.31222	N	0.697307	B	0.13594	0.008	B	0.08055	0.003	T	0.76753	-0.2843	10	0.51188	T	0.08	-18.7937	10.6433	0.45604	0.0:0.8425:0.0:0.1575	.	74	Q8IYD2	KLD8A_HUMAN	I	74	ENSP00000356123:V74I;ENSP00000356124:V74I;ENSP00000442229:V74I	ENSP00000356123:V74I	V	-	1	0	KLHDC8A	203579136	0.981000	0.34729	0.230000	0.23976	0.980000	0.70556	2.591000	0.46163	1.346000	0.45694	0.655000	0.94253	GTC		0.672	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		T	205312513	C	T	205312513	3	4	458	1	0	0	0	0	1	0	0	0	8364	536	19	1	852	1	KLHDC8A	1	205312513	Missense_Mutation	SNP	C	TCGA-BQ-5882-01A-11D-1589-08	29398216	205312513	43938108	8	24991											
HEATR5B	54497	hgsc.bcm.edu	37	2	37267620	37267620	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:37267620A>T	ENST00000233099.5	-	20	2993	c.2898T>A	c.(2896-2898)agT>agA	p.S966R	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S966R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	966						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACATCGGACCACTAGAATCCA	0.373																																																0													107	92	97					2																	37267620		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2898T>A	chr2.hg19:g.37267620A>T	ENSP00000233099:p.Ser966Arg		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	hg19	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.686846	0.48097	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.06528	3.29;3.29	5.5	1.75	0.24633	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.06096	0.0158	L	0.38175	1.15	0.51767	D	0.999939	B	0.32425	0.371	B	0.32149	0.141	T	0.35599	-0.9782	10	0.52906	T	0.07	-15.7822	11.2928	0.49261	0.805:0.0:0.195:0.0	.	966	Q9P2D3	HTR5B_HUMAN	R	966	ENSP00000233099:S966R;ENSP00000346531:S966R	ENSP00000233099:S966R	S	-	3	2	HEATR5B	37121124	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	1.659000	0.37387	0.035000	0.15519	-1.139000	0.01908	AGT		0.373	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		T	37267620	A	T	37267620	3	4	458	1	0	0	0	0	1	0	0	0	7034	156	6	5	3385	5	HEATR5B	2	37267620	Missense_Mutation	SNP	A	TCGA-BQ-5882-01A-11D-1589-08		37267620	205931753	9	24992											
UGGT1	56886	hgsc.bcm.edu	37	2	128918714	128918714	+	Silent	SNP	C	C	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:128918714C>A	ENST00000259253.6	+	25	2744	c.2697C>A	c.(2695-2697)atC>atA	p.I899I	UGGT1_ENST00000375990.3_Silent_p.I875I	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	899					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTTCACAGATCATTGGGCCAC	0.478																																																0													96	95	95					2																	128918714		2203	4300	6503	SO:0001819	synonymous_variant	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2697C>A	chr2.hg19:g.128918714C>A			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	hg19	CCDS2154.1																																																																																				0.478	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		A	128918714	C	A	128918714	2	1	458	1	0	0	0	0	0	0	0	1	16946	816	29	4		4	UGGT1	2	128918714	Silent	SNP	C	TCGA-BQ-5882-01A-11D-1589-08	91651094	128918714	114280659	10	24993											
MGAT5	4249	hgsc.bcm.edu	37	2	135206357	135206357	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:135206357G>A	ENST00000409645.1	+	17	2417	c.2165G>A	c.(2164-2166)aGg>aAg	p.R722K	MGAT5_ENST00000281923.2_Missense_Mutation_p.R722K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	722					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AGGCACCAGAGGGTCTGCCCC	0.597																																																0													66	66	66					2																	135206357		2203	4300	6503	SO:0001583	missense	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2165G>A	chr2.hg19:g.135206357G>A	ENSP00000386377:p.Arg722Lys		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	hg19	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389249	0.95988	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.82958	0.5150	M	0.81341	2.54	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	D	0.85213	0.1022	9	0.72032	D	0.01	-17.0654	18.7668	0.91876	0.0:0.0:1.0:0.0	.	722	Q09328	MGT5A_HUMAN	K	722	.	ENSP00000281923:R722K	R	+	2	0	MGAT5	134922827	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	9.702000	0.98712	2.523000	0.85059	0.655000	0.94253	AGG		0.597	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		A	135206357	G	A	135206357	3	1	458	1	0	0	0	0	1	0	0	0	9550	1000	35	2	2227	2	MGAT5	2	135206357	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	6287643	135206357	107993016	11	24994											
FMNL2	114793	hgsc.bcm.edu	37	2	153471511	153471511	+	Silent	SNP	T	T	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:153471511T>A	ENST00000288670.9	+	12	1576	c.1209T>A	c.(1207-1209)tcT>tcA	p.S403S		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	403	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAAACATTTCTCATGTAACTA	0.378																																																0													84	84	84					2																	153471511		1882	4124	6006	SO:0001819	synonymous_variant	114793			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1209T>A	chr2.hg19:g.153471511T>A			B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000288670.9	hg19	CCDS46429.1																																																																																				0.378	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		A	153471511	T	A	153471511	2	1	458	1	0	0	0	0	0	0	0	1	5954	1538	54	5		5	FMNL2	2	153471511	Silent	SNP	T	TCGA-BQ-5882-01A-11D-1589-08	18265154	153471511	89727862	12	24995											
GPD2	2820	hgsc.bcm.edu	37	2	157367411	157367411	+	Silent	SNP	C	C	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:157367411C>T	ENST00000310454.6	+	4	750	c.378C>T	c.(376-378)atC>atT	p.I126I	GPD2_ENST00000540309.1_Silent_p.I126I|GPD2_ENST00000409674.1_Silent_p.I126I|GPD2_ENST00000438166.2_Silent_p.I126I|GPD2_ENST00000409125.4_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	126					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AGAAGGCCATCATGAAGTTGG	0.378																																																0													178	177	178					2																	157367411		2203	4300	6503	SO:0001819	synonymous_variant	2820				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.378C>T	chr2.hg19:g.157367411C>T			A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	hg19	CCDS2202.1																																																																																				0.378	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			T	157367411	C	T	157367411	2	4	458	1	0	0	0	0	0	0	0	1	6608	816	29	2		2	GPD2	2	157367411	Silent	SNP	C	TCGA-BQ-5882-01A-11D-1589-08	3895900	157367411	85831962	13	24996											
TTN	7273	hgsc.bcm.edu	37	2	179575504	179575504	+	Silent	SNP	G	G	A	rs375083775		TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:179575504G>A	ENST00000591111.1	-	96	27593	c.27369C>T	c.(27367-27369)ggC>ggT	p.G9123G	TTN_ENST00000342992.6_Silent_p.G8196G|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.G9440G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13254	Ig-like 74.				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)	p.G8196G(1)		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)			GGTACTTTCCGCCACTTCGTA	0.488																																																1	Substitution - coding silent(1)	large_intestine(1)						G	,,,	1,3979		0,1,1989	148	143	144		,24588,,	-12.3	0.4	2		144	0,8340		0,0,4170	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6159	AA,AG,GG		0.0,0.0251,0.0081	,,,	,8196/33424,,	179575504	1,12319	1990	4170	6160	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27369C>T	chr2.hg19:g.179575504G>A			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	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179575504	G	A	179575504	2	1	458	1	0	0	0	0	0	0	0	1	16740	1074	38	1		1	TTN	2	179575504	Silent	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	22208093	179575504	63623869	14	24997											
ACADL	33	hgsc.bcm.edu	37	2	211081192	211081192	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:211081192C>T	ENST00000233710.3	-	4	642	c.415G>A	c.(415-417)Ggt>Agt	p.G139S	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	139					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATGACAATACCTGAATGAATA	0.338																																																0													107	101	103					2																	211081192		2202	4300	6502	SO:0001583	missense	33			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.415G>A	chr2.hg19:g.211081192C>T	ENSP00000233710:p.Gly139Ser		B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	hg19	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679212	0.68042	.	.	ENSG00000115361	ENST00000233710	D	0.99683	-6.39	5.77	4.9	0.64082	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.179938	0.64402	D	0.000017	D	0.98469	0.9490	N	0.16266	0.395	0.30365	N	0.783448	B	0.26445	0.149	B	0.34038	0.174	D	0.99899	1.1157	10	0.66056	D	0.02	.	15.4418	0.75190	0.0:0.933:0.0:0.067	.	139	P28330	ACADL_HUMAN	S	139	ENSP00000233710:G139S	ENSP00000233710:G139S	G	-	1	0	ACADL	210789437	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	5.531000	0.67148	1.578000	0.49821	0.655000	0.94253	GGT		0.338	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		T	211081192	C	T	211081192	3	4	458	1	0	0	0	0	1	0	0	0	112	681	24	2	909	2	ACADL	2	211081192	Missense_Mutation	SNP	C	TCGA-BQ-5882-01A-11D-1589-08	31505688	211081192	32118181	15	24998											
DGKD	8527	hgsc.bcm.edu	37	2	234363455	234363455	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:234363455G>T	ENST00000264057.2	+	19	2323	c.2311G>T	c.(2311-2313)Ggc>Tgc	p.G771C	DGKD_ENST00000409813.3_Missense_Mutation_p.G727C	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	771					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTTTGGCATTGGCCTGGATGC	0.453																																																0													168	145	153					2																	234363455		2203	4300	6503	SO:0001583	missense	8527			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2311G>T	chr2.hg19:g.234363455G>T	ENSP00000264057:p.Gly771Cys		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	hg19	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405390	0.83230	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	D;D	0.89270	-2.49;-2.49	3.57	3.57	0.40892	Diacylglycerol kinase, accessory domain (2);	0.000000	0.64402	D	0.000004	D	0.96324	0.8801	H	0.97077	3.935	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97837	1.0266	10	0.87932	D	0	.	16.4941	0.84223	0.0:0.0:1.0:0.0	.	655;727;771	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	C	771;727	ENSP00000264057:G771C;ENSP00000386455:G727C	ENSP00000264057:G771C	G	+	1	0	DGKD	234028194	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	9.627000	0.98412	2.305000	0.77605	0.643000	0.83706	GGC		0.453	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		T	234363455	G	T	234363455	3	4	458	1	0	0	0	0	1	0	0	0	4469	1348	47	4	2409	4	DGKD	2	234363455	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	23282263	234363455	8835918	16	24999											
CCDC13	152206	hgsc.bcm.edu	37	3	42793437	42793438	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:42793437_42793438insTC	ENST00000310232.6	-	5	676_677	c.593_594insGA	c.(592-594)gacfs	p.D198fs	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	198										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCAATGCTCTGTCTCCCATCTG	0.609																																																0																																										SO:0001589	frameshift_variant	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.592_593dupGA	chr3.hg19:g.42793440_42793441dupTC	ENSP00000309836:p.Asp198fs			Frame_Shift_Ins	INS	ENST00000310232.6	hg19	CCDS2705.1																																																																																				0.609	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		TC	42793438	-	TC	42793437	7	5	458	1	0	1	1	0	0	0	0	0	2767	1368	48	0	1601	0	CCDC13	3	42793437	Frame_Shift_Ins	INS	-	TCGA-BQ-5882-01A-11D-1589-08		42793437	155228993	17	25000	193	2									
CCDC13	152206	hgsc.bcm.edu	37	3	42793447	42793447	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:42793447T>G	ENST00000310232.6	-	5	667	c.584A>C	c.(583-585)cAg>cCg	p.Q195P	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	195										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GTCTCCCATCTGGGCCCTCGG	0.592																																																0													84	77	79					3																	42793447		2203	4300	6503	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.584A>C	chr3.hg19:g.42793447T>G	ENSP00000309836:p.Gln195Pro			Missense_Mutation	SNP	ENST00000310232.6	hg19	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	T	4.532	0.098801	0.08681	.	.	ENSG00000244607	ENST00000310232	T	0.24723	1.84	4.01	1.44	0.22558	.	0.735360	0.13594	N	0.376366	T	0.23451	0.0567	L	0.55103	1.725	0.20403	N	0.999901	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.21586	-1.0241	10	0.56958	D	0.05	.	8.5317	0.33337	0.0:0.0:0.4318:0.5682	.	195;195;195	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	P	195	ENSP00000309836:Q195P	ENSP00000309836:Q195P	Q	-	2	0	CCDC13	42768451	0.092000	0.21681	0.182000	0.23118	0.423000	0.31445	-0.078000	0.11375	0.286000	0.22352	0.533000	0.62120	CAG		0.592	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		G	42793447	T	G	42793447	3	3	458	1	0	0	0	0	1	0	0	0	2767	1580	55	5	1611	5	CCDC13	3	42793447	Missense_Mutation	SNP	T	TCGA-BQ-5882-01A-11D-1589-08	10	42793447	155228983	18	25001	193	2									
STAB1	23166	hgsc.bcm.edu	37	3	52544437	52544437	+	Missense_Mutation	SNP	G	G	A	rs569908210		TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:52544437G>A	ENST00000321725.6	+	25	2777	c.2701G>A	c.(2701-2703)Gtc>Atc	p.V901I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	901	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGATGGCCGCGTCTGTGTGGC	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18485	0.0		0.0	False		,,,				2504	0.0															0													95	86	89					3																	52544437		2203	4300	6503	SO:0001583	missense	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2701G>A	chr3.hg19:g.52544437G>A	ENSP00000312946:p.Val901Ile		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637778	0.29157	.	.	ENSG00000010327	ENST00000321725	T	0.42131	0.98	5.86	1.84	0.25277	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.431461	0.22025	N	0.065676	T	0.29850	0.0746	L	0.37697	1.125	0.19575	N	0.999963	B	0.20988	0.05	B	0.12837	0.008	T	0.16719	-1.0393	10	0.36615	T	0.2	.	9.6284	0.39765	0.3064:0.0:0.6936:0.0	.	901	Q9NY15	STAB1_HUMAN	I	901	ENSP00000312946:V901I	ENSP00000312946:V901I	V	+	1	0	STAB1	52519477	0.886000	0.30341	0.825000	0.32803	0.923000	0.55619	1.548000	0.36201	0.322000	0.23283	-0.345000	0.07892	GTC		0.612	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52544437	G	A	52544437	3	1	458	1	0	0	0	0	1	0	0	0	15242	1145	40	1	2799	1	STAB1	3	52544437	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	9750990	52544437	145477993	19	25002											
EPHB1	2047	hgsc.bcm.edu	37	3	134670526	134670526	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:134670526T>A	ENST00000398015.3	+	3	807	c.437T>A	c.(436-438)tTc>tAc	p.F146Y	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	146	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GATGAGAGCTTCTCCCAGGTG	0.493																																																0													154	151	152					3																	134670526		1972	4204	6176	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.437T>A	chr3.hg19:g.134670526T>A	ENSP00000381097:p.Phe146Tyr		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	hg19	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644684	0.87859	.	.	ENSG00000154928	ENST00000398015;ENST00000474732	T;T	0.04234	3.67;3.67	5.49	5.49	0.81192	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.86097	2.795	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.91635	0.999;0.991	T	0.01725	-1.1287	9	.	.	.	.	15.6027	0.76636	0.0:0.0:0.0:1.0	.	146;146	B5A969;P54762	.;EPHB1_HUMAN	Y	146;124	ENSP00000381097:F146Y;ENSP00000418352:F124Y	.	F	+	2	0	EPHB1	136153216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.085000	0.62840	0.533000	0.62120	TTC		0.493	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		A	134670526	T	A	134670526	3	1	458	1	0	0	0	0	1	0	0	0	5176	1783	62	5	447	5	EPHB1	3	134670526	Missense_Mutation	SNP	T	TCGA-BQ-5882-01A-11D-1589-08	82126089	134670526	63351904	20	25003											
MED12L	116931	hgsc.bcm.edu	37	3	151078359	151078359	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:151078359A>G	ENST00000474524.1	+	19	2856	c.2818A>G	c.(2818-2820)Agc>Ggc	p.S940G	MED12L_ENST00000273432.4_Missense_Mutation_p.S800G|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	940						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTGTCATGTAGCCACCTCAG	0.438																																																0													211	195	201					3																	151078359		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2818A>G	chr3.hg19:g.151078359A>G	ENSP00000417235:p.Ser940Gly		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	hg19	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133418	0.77662	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.79653	-1.29;-1.29	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	L	0.45228	1.405	0.80722	D	1	P;D;P	0.56035	0.48;0.974;0.956	B;D;D	0.67725	0.412;0.953;0.931	D	0.87163	0.2216	10	0.87932	D	0	-22.6472	15.5111	0.75782	1.0:0.0:0.0:0.0	.	800;940;940	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	G	940;800	ENSP00000417235:S940G;ENSP00000273432:S800G	ENSP00000273432:S800G	S	+	1	0	MED12L	152561049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.649000	0.91067	2.199000	0.70637	0.533000	0.62120	AGC		0.438	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		G	151078359	A	G	151078359	3	3	458	1	0	0	0	0	1	0	0	0	9431	420	15	3	2892	3	MED12L	3	151078359	Missense_Mutation	SNP	A	TCGA-BQ-5882-01A-11D-1589-08	16407833	151078359	46944071	21	25004											
NAF1	92345	hgsc.bcm.edu	37	4	164050121	164050121	+	Silent	SNP	G	G	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr4:164050121G>A	ENST00000274054.2	-	8	1606	c.1413C>T	c.(1411-1413)ccC>ccT	p.P471P	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	471	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				gagggggagggggtgggggta	0.517																																																0													10	11	10					4																	164050121		2191	4274	6465	SO:0001819	synonymous_variant	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1413C>T	chr4.hg19:g.164050121G>A			D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	hg19	CCDS3803.1																																																																																				0.517	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		A	164050121	G	A	164050121	2	1	458	1	0	0	0	0	0	0	0	1	10142	1219	43	2		2	NAF1	4	164050121	Silent	SNP	G	TCGA-BQ-5882-01A-11D-1589-08		164050121	27104155	22	25005											
TERT	7015	hgsc.bcm.edu	37	5	1255515	1255515	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr5:1255515C>A	ENST00000310581.5	-	14	3101	c.3044G>T	c.(3043-3045)tGt>tTt	p.C1015F	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.C952F	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1015	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTGCAGCACACATGCGTGAAA	0.572									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																							0													76	82	80					5																	1255515		2161	4266	6427	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3044G>T	chr5.hg19:g.1255515C>A	ENSP00000309572:p.Cys1015Phe		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	hg19	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	c	14.17	2.454152	0.43634	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	T;T	0.66815	-0.23;-0.23	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.83622	0.5294	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83650	0.0155	10	0.27082	T	0.32	-0.9462	16.718	0.85402	0.0:1.0:0.0:0.0	.	952;1015	O14746-3;O14746	.;TERT_HUMAN	F	1015;952	ENSP00000309572:C1015F;ENSP00000334346:C952F	ENSP00000309572:C1015F	C	-	2	0	TERT	1308515	1.000000	0.71417	0.180000	0.23079	0.008000	0.06430	6.534000	0.73833	2.237000	0.73441	0.655000	0.94253	TGT		0.572	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			A	1255515	C	A	1255515	3	1	458	1	0	0	0	0	1	0	0	0	15769	478	17	4	366	4	TERT	5	1255515	Missense_Mutation	SNP	C	TCGA-BQ-5882-01A-11D-1589-08		1255515	179659745	23	25006											
CCNI2	645121	hgsc.bcm.edu	37	5	132084160	132084160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr5:132084160C>A	ENST00000378731.1	+	2	602	c.551C>A	c.(550-552)tCa>tAa	p.S184*	SEPT8_ENST00000481030.1_5'Flank	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	184					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCCTGATTTCAGTGAAGGTA	0.542																																																0													78	76	77					5																	132084160		2203	4300	6503	SO:0001587	stop_gained	645121			BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.551C>A	chr5.hg19:g.132084160C>A	ENSP00000368005:p.Ser184*		B2RNE2|B7ZMB7|B7ZMB8	Nonsense_Mutation	SNP	ENST00000378731.1	hg19	CCDS34236.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374680	0.61735	.	.	ENSG00000205089	ENST00000378731	.	.	.	4.74	2.95	0.34219	.	0.352786	0.29699	N	0.011430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	10.896	0.47023	0.0:0.8799:0.0:0.1201	.	.	.	.	X	184	.	ENSP00000368005:S184X	S	+	2	0	CCNI2	132112059	0.186000	0.23225	0.002000	0.10522	0.016000	0.09150	2.489000	0.45285	0.667000	0.31107	0.651000	0.88453	TCA		0.542	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132833.1	NM_001039780		A	132084160	C	A	132084160	4	1	458	1	0	0	0	0	0	1	0	0	2929	838	29	4	557	4	CCNI2	5	132084160	Nonsense_Mutation	SNP	C	TCGA-BQ-5882-01A-11D-1589-08	130828645	132084160	48831100	24	25007											
OR5V1	81696	hgsc.bcm.edu	37	6	29323498	29323498	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr6:29323498G>C	ENST00000377154.1	-	4	774	c.475C>G	c.(475-477)Cat>Gat	p.H159D	OR5V1_ENST00000543825.1_Missense_Mutation_p.H159D			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACACTGTATGCACCACTGAG	0.438																																					Ovarian(32;43 883 21137 32120 42650)											0													88	85	86					6																	29323498		2203	4299	6502	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.475C>G	chr6.hg19:g.29323498G>C	ENSP00000366359:p.His159Asp		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	hg19	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420539	0.25639	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00262	8.4;8.4	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34484	N	0.003929	T	0.00328	0.0010	M	0.88512	2.96	0.26396	N	0.976491	D	0.89917	1.0	D	0.91635	0.999	T	0.37291	-0.9712	10	0.51188	T	0.08	-51.5055	12.8107	0.57637	0.0:0.0:0.8357:0.1643	.	159	Q9UGF6	OR5V1_HUMAN	D	159	ENSP00000366359:H159D;ENSP00000443309:H159D	ENSP00000366356:H159D	H	-	1	0	OR5V1	29431477	0.000000	0.05858	0.876000	0.34364	0.772000	0.43724	-0.032000	0.12266	2.374000	0.81015	0.543000	0.68304	CAT		0.438	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			C	29323498	G	C	29323498	3	2	458	1	0	0	0	0	1	0	0	0	11186	1319	46	4	493	4	OR5V1	6	29323498	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08		29323498	141791569	25	25008											
RIMS1	22999	hgsc.bcm.edu	37	6	73108662	73108662	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr6:73108662T>G	ENST00000521978.1	+	33	4726	c.4726T>G	c.(4726-4728)Tat>Gat	p.Y1576D	RIMS1_ENST00000517960.1_Missense_Mutation_p.Y1359D|RIMS1_ENST00000538414.1_Missense_Mutation_p.Y382D|RIMS1_ENST00000520567.1_Missense_Mutation_p.Y1226D|RIMS1_ENST00000518273.1_Missense_Mutation_p.Y1255D|RIMS1_ENST00000517827.1_Missense_Mutation_p.Y710D|RIMS1_ENST00000491071.2_Missense_Mutation_p.Y1365D|RIMS1_ENST00000401910.3_Missense_Mutation_p.Y896D|RIMS1_ENST00000522291.1_Missense_Mutation_p.Y1175D|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.Y1359D|RIMS1_ENST00000523963.1_Missense_Mutation_p.Y701D|RIMS1_ENST00000414192.2_Missense_Mutation_p.Y103D|RIMS1_ENST00000425662.2_Missense_Mutation_p.Y644D|RIMS1_ENST00000264839.7_Missense_Mutation_p.Y1425D	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1576	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTTAGCTCCATATGTCAAAGT	0.318																																																0													66	62	63					6																	73108662		1796	4064	5860	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4726T>G	chr6.hg19:g.73108662T>G	ENSP00000428417:p.Tyr1576Asp		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	hg19	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	23.1|23.1|23.1	4.374106|4.374106|4.374106	0.82573|0.82573|0.82573	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192	.|.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|.|0.80033	.|.|-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;0.34;-1.33;-1.33;-1.33;-1.33	5.37|5.37|5.37	5.37|5.37|5.37	0.77165|0.77165|0.77165	.|.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|.|0.000000	.|.|0.56097	.|.|D	.|.|0.000022	D|D|D	0.93953|0.93953|0.93953	0.8064|0.8064|0.8064	H|H|H	0.99516|0.99516|0.99516	4.605|4.605|4.605	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|.|0.89917	.|.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	.|.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|.|0.97110	.|.|1.0;1.0;1.0;1.0;0.999;1.0;0.999;1.0;0.999;0.999;0.999;0.994;0.999	D|D|D	0.96600|0.96600|0.96600	0.9444|0.9444|0.9444	5|5|10	.|.|0.87932	.|.|D	.|.|0	-24.6441|-24.6441|-24.6441	15.6587|15.6587|15.6587	0.77165|0.77165|0.77165	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|.|200;382;710;701;1425;896;1175;479;1255;1359;652;1365;1576	.|.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.|.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	Q|R|D	493|921|1365;1425;1365;1359;1255;1175;1425;1359;1255;1226;1175;1576;896;701;644;741;710;624;382;103	.|.|ENSP00000430101:Y1365D;ENSP00000275037:Y1359D;ENSP00000264839:Y1425D;ENSP00000429959:Y1359D;ENSP00000430408:Y1255D;ENSP00000430502:Y1226D;ENSP00000430932:Y1175D;ENSP00000428417:Y1576D;ENSP00000385649:Y896D;ENSP00000428328:Y701D;ENSP00000411235:Y644D;ENSP00000389503:Y741D;ENSP00000428367:Y710D;ENSP00000359448:Y624D;ENSP00000439730:Y382D;ENSP00000402273:Y103D	.|.|ENSP00000264839:Y1425D	H|I|Y	+|+|+	3|2|1	2|0|0	RIMS1|RIMS1|RIMS1	73165383|73165383|73165383	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.987000|0.987000|0.987000	0.45799|0.45799|0.45799	0.938000|0.938000|0.938000	0.57974|0.57974|0.57974	7.934000|7.934000|7.934000	0.87649|0.87649|0.87649	2.157000|2.157000|2.157000	0.67596|0.67596|0.67596	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	CAT|ATA|TAT		0.318	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			G	73108662	T	G	73108662	3	3	458	1	0	0	0	0	1	0	0	0	13373	1406	49	5	5019	5	RIMS1	6	73108662	Missense_Mutation	SNP	T	TCGA-BQ-5882-01A-11D-1589-08	43785164	73108662	98006405	26	25009											
ANLN	54443	hgsc.bcm.edu	37	7	36445953	36445953	+	Silent	SNP	T	T	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr7:36445953T>C	ENST00000265748.2	+	4	872	c.651T>C	c.(649-651)aaT>aaC	p.N217N	ANLN_ENST00000396068.2_Silent_p.N217N	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	217	Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ATGATGTAAATCACTCATTTG	0.468																																																0													108	105	106					7																	36445953		2203	4300	6503	SO:0001819	synonymous_variant	54443			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.651T>C	chr7.hg19:g.36445953T>C			Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Silent	SNP	ENST00000265748.2	hg19	CCDS5447.1																																																																																				0.468	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		C	36445953	T	C	36445953	2	2	458	1	0	0	0	0	0	0	0	1	694	1432	50	3		3	ANLN	7	36445953	Silent	SNP	T	TCGA-BQ-5882-01A-11D-1589-08		36445953	122692710	27	25010											
MUC17	140453	hgsc.bcm.edu	37	7	100681165	100681165	+	Silent	SNP	T	T	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr7:100681165T>C	ENST00000306151.4	+	3	6532	c.6468T>C	c.(6466-6468)taT>taC	p.Y2156Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2156	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCAACTTATAGTGACAGAA	0.463																																																0													221	219	220					7																	100681165		2203	4300	6503	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6468T>C	chr7.hg19:g.100681165T>C			O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	hg19	CCDS34711.1																																																																																				0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100681165	T	C	100681165	2	2	458	1	0	0	0	0	0	0	0	1	9976	1413	49	3		3	MUC17	7	100681165	Silent	SNP	T	TCGA-BQ-5882-01A-11D-1589-08	64235212	100681165	58457498	28	25011											
MET	4233	hgsc.bcm.edu	37	7	116340025	116340025	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr7:116340025T>C	ENST00000318493.6	+	2	1074	c.887T>C	c.(886-888)cTg>cCg	p.L296P	MET_ENST00000436117.2_Missense_Mutation_p.L296P|MET_ENST00000397752.3_Missense_Mutation_p.L296P			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAATGCCTCTGGAGTGTATT	0.428			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													81	77	78					7																	116340025		1839	4092	5931	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.887T>C	chr7.hg19:g.116340025T>C	ENSP00000317272:p.Leu296Pro		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.978979	0.34942	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.17691	2.26;2.26;2.26	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.068376	0.64402	D	0.000011	T	0.51601	0.1684	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;0.999;0.999;0.999;0.999;1.0;0.996;0.999;1.0;1.0	T	0.60895	-0.7172	10	0.87932	D	0	-8.4229	16.8222	0.85835	0.0:0.0:0.0:1.0	.	296;296;296;296;296;296;296;296;296;296;296;296;296	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	P	296	ENSP00000380860:L296P;ENSP00000317272:L296P;ENSP00000410980:L296P	ENSP00000317272:L296P	L	+	2	0	MET	116127261	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	7.636000	0.83301	2.371000	0.80710	0.533000	0.62120	CTG		0.428	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			C	116340025	T	C	116340025	3	2	458	1	0	0	0	0	1	0	0	0	9487	1580	55	3	889	3	MET	7	116340025	Missense_Mutation	SNP	T	TCGA-BQ-5882-01A-11D-1589-08	15658860	116340025	42798638	29	25012											
PTPRZ1	5803	hgsc.bcm.edu	37	7	121651531	121651531	+	Silent	SNP	C	C	T	rs143422308		TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr7:121651531C>T	ENST00000393386.2	+	12	2842	c.2431C>T	c.(2431-2433)Ctg>Ttg	p.L811L	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	811					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAATCCATCCTGTCTTCCTA	0.458																																																0													281	232	249					7																	121651531		2203	4300	6503	SO:0001819	synonymous_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2431C>T	chr7.hg19:g.121651531C>T			A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	hg19	CCDS34740.1																																																																																				0.458	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121651531	C	T	121651531	2	4	458	1	0	0	0	0	0	0	0	1	12820	680	24	2		2	PTPRZ1	7	121651531	Silent	SNP	C	TCGA-BQ-5882-01A-11D-1589-08	5311506	121651531	37487132	30	25013											
WRN	7486	hgsc.bcm.edu	37	8	30938567	30938567	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr8:30938567G>A	ENST00000298139.5	+	9	1273	c.1024G>A	c.(1024-1026)Gtt>Att	p.V342I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	342					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTAATTCACGTTGAAGATGA	0.353			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0													105	101	103					8																	30938567		2203	4300	6503	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1024G>A	chr8.hg19:g.30938567G>A	ENSP00000298139:p.Val342Ile		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	hg19	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	4.269	0.049074	0.08243	.	.	ENSG00000165392	ENST00000298139	T	0.41758	0.99	5.27	-3.21	0.05140	.	0.909998	0.09395	N	0.807993	T	0.17534	0.0421	N	0.20401	0.57	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28427	-1.0044	10	0.10111	T	0.7	-0.4055	0.2738	0.00235	0.3113:0.1387:0.2652:0.2848	.	342	Q14191	WRN_HUMAN	I	342	ENSP00000298139:V342I	ENSP00000298139:V342I	V	+	1	0	WRN	31058109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.336000	0.07863	-0.260000	0.09418	-0.143000	0.13931	GTT		0.353	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			A	30938567	G	A	30938567	3	1	458	1	0	0	0	0	1	0	0	0	17407	1145	40	1	1054	1	WRN	8	30938567	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08		30938567	115425455	31	25014											
TTC35	9694	hgsc.bcm.edu	37	8	109489022	109489022	+	Silent	SNP	C	C	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr8:109489022C>T	ENST00000220853.3	+	9	638	c.603C>T	c.(601-603)acC>acT	p.T201T	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	201						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TTAAGTATACCCAAGGTGGAC	0.338																																																0													100	100	100					8																	109489022		2203	4300	6503	SO:0001819	synonymous_variant	9694			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.603C>T	chr8.hg19:g.109489022C>T			Q8WUE1	Silent	SNP	ENST00000220853.3	hg19	CCDS6309.1																																																																																				0.338	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		T	109489022	C	T	109489022	2	4	458	1	0	0	0	0	0	0	0	1	16708	610	22	2		2	TTC35	8	109489022	Silent	SNP	C	TCGA-BQ-5882-01A-11D-1589-08	78550455	109489022	36875000	32	25015											
FAM49B	51571	hgsc.bcm.edu	37	8	130883632	130883632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr8:130883632C>A	ENST00000519824.2	-	4	457	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	FAM49B_ENST00000401979.2_Nonsense_Mutation_p.E62*|FAM49B_ENST00000523509.1_Nonsense_Mutation_p.E62*|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000517654.1_Nonsense_Mutation_p.E62*|FAM49B_ENST00000519540.1_Nonsense_Mutation_p.E62*|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000519110.1_Nonsense_Mutation_p.E62*|FAM49B_ENST00000522746.1_Nonsense_Mutation_p.E62*|FAM49B_ENST00000518879.1_Intron|SNORA25_ENST00000363205.1_RNA	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	62						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)		p.E62K(1)		kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TCTCGTATTTCGTGGCCAGCT	0.378																																																1	Substitution - Missense(1)	large_intestine(1)											110	106	108					8																	130883632		2203	4300	6503	SO:0001587	stop_gained	51571			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.184G>T	chr8.hg19:g.130883632C>A	ENSP00000429150:p.Glu62*		Q96AZ5|Q9NW21|Q9NZE7	Nonsense_Mutation	SNP	ENST00000519824.2	hg19	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	C	37	6.228266	0.97394	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000519142;ENST00000520204;ENST00000518283;ENST00000523993;ENST00000520254;ENST00000519020;ENST00000518167;ENST00000517672	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-18.5272	19.0946	0.93244	0.0:1.0:0.0:0.0	.	.	.	.	X	62	.	ENSP00000384880:E62X	E	-	1	0	FAM49B	130952814	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.745000	0.94114	0.650000	0.86243	GAA		0.378	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623		A	130883632	C	A	130883632	4	1	458	1	0	0	0	0	0	1	0	0	5578	893	31	4	826	4	FAM49B	8	130883632	Nonsense_Mutation	SNP	C	TCGA-BQ-5882-01A-11D-1589-08	21394610	130883632	15480390	33	25016											
PHF20L1	51105	hgsc.bcm.edu	37	8	133816926	133816926	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr8:133816926G>C	ENST00000395386.2	+	8	1087	c.788G>C	c.(787-789)aGg>aCg	p.R263T	PHF20L1_ENST00000395376.1_Missense_Mutation_p.R268T|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R263T|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R237T|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R238T	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	263							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCAAACAAGAGGAAAAATAAT	0.378																																																0													106	100	102					8																	133816926		2203	4300	6503	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.788G>C	chr8.hg19:g.133816926G>C	ENSP00000378784:p.Arg263Thr		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	hg19	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365266	0.82463	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.69685	-0.35;-0.18;0.1;0.49;-0.42;0.23;-0.16;0.92	5.5	5.5	0.81552	.	0.189440	0.56097	D	0.000032	T	0.75213	0.3819	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.997;0.999;1.0;0.996	D;D;D;D;D	0.87578	0.99;0.993;0.997;0.998;0.99	T	0.75590	-0.3265	10	0.49607	T	0.09	-16.2918	18.372	0.90409	0.0:0.0:1.0:0.0	.	238;102;263;263;237	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	T	267;263;238;263;263;237;268;133;238;102	ENSP00000378781:R267T;ENSP00000378777:R263T;ENSP00000355301:R238T;ENSP00000378784:R263T;ENSP00000324519:R263T;ENSP00000338269:R237T;ENSP00000378775:R268T;ENSP00000378788:R238T	ENSP00000324519:R263T	R	+	2	0	PHF20L1	133886108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.969000	0.70422	2.596000	0.87737	0.585000	0.79938	AGG		0.378	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		C	133816926	G	C	133816926	3	2	458	1	0	0	0	0	1	0	0	0	11834	1000	35	4	814	4	PHF20L1	8	133816926	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	2933294	133816926	12547096	34	25017											
FBXO10	26267	hgsc.bcm.edu	37	9	37537307	37537307	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr9:37537307G>T	ENST00000432825.2	-	3	1267	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'Flank|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	407					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGTGAGTTCAGCACTAGGCAG	0.612																																																0													22	24	23					9																	37537307		2000	4176	6176	SO:0001583	missense	26267			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1219C>A	chr9.hg19:g.37537307G>T	ENSP00000403802:p.Leu407Met		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	hg19	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044290	0.55110	.	.	ENSG00000147912	ENST00000432825	T	0.51071	0.72	5.46	3.59	0.41128	Carbohydrate-binding/sugar hydrolysis domain (1);	0.084546	0.50627	D	0.000114	T	0.45657	0.1353	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	P	0.56343	0.796	T	0.42413	-0.9453	10	0.72032	D	0.01	-14.4477	7.4587	0.27283	0.1335:0.1507:0.7157:0.0	.	407	Q9UK96	FBX10_HUMAN	M	407	ENSP00000403802:L407M	ENSP00000276960:L407M	L	-	1	2	FBXO10	37527307	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.365000	0.59486	2.543000	0.85770	0.655000	0.94253	CTG		0.612	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			T	37537307	G	T	37537307	3	4	458	1	0	0	0	0	1	0	0	0	5728	962	34	4	1687	4	FBXO10	9	37537307	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08		37537307	103676124	35	25018											
KIAA1217	56243	hgsc.bcm.edu	37	10	24508666	24508666	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr10:24508666G>T	ENST00000376454.3	+	2	212	c.182G>T	c.(181-183)cGc>cTc	p.R61L	KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61L|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	61					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGTCTTCCCGCAATATCCCA	0.498																																																0													71	69	70					10																	24508666		2203	4300	6503	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.182G>T	chr10.hg19:g.24508666G>T	ENSP00000365637:p.Arg61Leu		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	hg19	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029194	0.93518	.	.	ENSG00000120549	ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.77	5.77	0.91146	.	0.093558	0.39985	N	0.001204	T	0.74981	0.3788	L	0.43923	1.385	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.73588	-0.3935	10	0.49607	T	0.09	.	19.9927	0.97374	0.0:0.0:1.0:0.0	.	61;61;61;61	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	L	61	ENSP00000365639:R61L;ENSP00000392625:R61L;ENSP00000365637:R61L;ENSP00000365635:R61L	ENSP00000365635:R61L	R	+	2	0	KIAA1217	24548672	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	6.115000	0.71566	2.745000	0.94114	0.655000	0.94253	CGC		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		T	24508666	G	T	24508666	3	4	458	1	0	0	0	0	1	0	0	0	8218	1087	38	4	188	4	KIAA1217	10	24508666	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08		24508666	111026081	36	25019											
EPC1	80314	hgsc.bcm.edu	37	10	32580239	32580239	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr10:32580239C>G	ENST00000263062.8	-	6	1096	c.827G>C	c.(826-828)gGc>gCc	p.G276A	EPC1_ENST00000375110.2_Missense_Mutation_p.G226A|EPC1_ENST00000319778.6_Missense_Mutation_p.G276A	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	276					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATTGTAGTCGCCCAAATTATA	0.313																																																0													75	73	74					10																	32580239		2203	4300	6503	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.827G>C	chr10.hg19:g.32580239C>G	ENSP00000263062:p.Gly276Ala		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	hg19	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170633	0.38315	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.66099	-0.19;-0.19;-0.19	4.89	4.89	0.63831	.	0.214139	0.49305	D	0.000142	T	0.55497	0.1924	L	0.39245	1.2	0.45594	D	0.99853	B;B;B;B	0.25667	0.048;0.131;0.097;0.059	B;B;B;B	0.27380	0.015;0.019;0.079;0.008	T	0.51124	-0.8745	10	0.22109	T	0.4	-15.0295	18.3946	0.90494	0.0:1.0:0.0:0.0	.	276;226;276;276	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	A	226;276;276	ENSP00000364251:G226A;ENSP00000318559:G276A;ENSP00000263062:G276A	ENSP00000263062:G276A	G	-	2	0	EPC1	32620245	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.929000	0.56514	2.419000	0.82065	0.467000	0.42956	GGC		0.313	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			G	32580239	C	G	32580239	3	3	458	1	0	0	0	0	1	0	0	0	5162	739	26	4	1723	4	EPC1	10	32580239	Missense_Mutation	SNP	C	TCGA-BQ-5882-01A-11D-1589-08	8071573	32580239	102954508	37	25020											
OSBPL5	114879	hgsc.bcm.edu	37	11	3141834	3141834	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr11:3141834G>C	ENST00000263650.7	-	6	582	c.423C>G	c.(421-423)agC>agG	p.S141R	OSBPL5_ENST00000348039.5_Intron|OSBPL5_ENST00000389989.3_Intron|OSBPL5_ENST00000525498.1_Missense_Mutation_p.S93R|OSBPL5_ENST00000542243.1_Intron	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	141	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCTTGGTCCAGCTCTTCAGGG	0.677																																																0													53	49	51					11																	3141834		2202	4298	6500	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.423C>G	chr11.hg19:g.3141834G>C	ENSP00000263650:p.Ser141Arg		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	hg19	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763077	0.49574	.	.	ENSG00000021762	ENST00000263650;ENST00000525498	T;T	0.76186	-1.0;2.64	4.38	4.38	0.52667	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.115051	0.64402	D	0.000020	T	0.74786	0.3762	L	0.54323	1.7	0.80722	D	1	P;B;B	0.36753	0.568;0.056;0.425	B;B;B	0.44278	0.175;0.149;0.445	T	0.78091	-0.2339	10	0.72032	D	0.01	-34.5207	12.7278	0.57180	0.0829:0.0:0.9171:0.0	.	93;102;141	B4DVB0;E7EP03;Q9H0X9	.;.;OSBL5_HUMAN	R	141;93	ENSP00000263650:S141R;ENSP00000433342:S93R	ENSP00000263650:S141R	S	-	3	2	OSBPL5	3098410	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.883000	0.28200	2.285000	0.76669	0.555000	0.69702	AGC		0.677	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			C	3141834	G	C	3141834	3	2	458	1	0	0	0	0	1	0	0	0	11282	962	34	4	2284	4	OSBPL5	11	3141834	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08		3141834	131864682	38	25021											
OR8H3	390152	hgsc.bcm.edu	37	11	55890629	55890629	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr11:55890629A>G	ENST00000313472.3	+	1	781	c.781A>G	c.(781-783)Aag>Gag	p.K261E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TACTTACTTAAAGCCAAGAAA	0.373																																																0													102	101	101					11																	55890629		2201	4296	6497	SO:0001583	missense	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.781A>G	chr11.hg19:g.55890629A>G	ENSP00000323928:p.Lys261Glu		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	hg19	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276100	0.23307	.	.	ENSG00000181761	ENST00000313472	T	0.37411	1.2	3.62	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.222186	0.32134	N	0.006528	T	0.54822	0.1882	M	0.83774	2.66	0.09310	N	1	D	0.76494	0.999	D	0.71414	0.973	T	0.40194	-0.9576	10	0.87932	D	0	.	5.4761	0.16695	0.5957:0.3026:0.1016:0.0	.	261	Q8N146	OR8H3_HUMAN	E	261	ENSP00000323928:K261E	ENSP00000323928:K261E	K	+	1	0	OR8H3	55647205	0.000000	0.05858	0.804000	0.32291	0.121000	0.20230	-0.491000	0.06474	1.415000	0.47037	0.145000	0.16022	AAG		0.373	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		G	55890629	A	G	55890629	3	3	458	1	0	0	0	0	1	0	0	0	11241	15	1	3	783	3	OR8H3	11	55890629	Missense_Mutation	SNP	A	TCGA-BQ-5882-01A-11D-1589-08	52748795	55890629	79115887	39	25022											
IFLTD1	160492	hgsc.bcm.edu	37	12	25702289	25702289	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr12:25702289C>A	ENST00000282881.6	-	2	367	c.218G>T	c.(217-219)gGt>gTt	p.G73V	IFLTD1_ENST00000413632.2_Missense_Mutation_p.G94V|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000458174.2_Missense_Mutation_p.G94V	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		73					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GGAACAGCTACCTACAGTAGC	0.353																																																0													55	50	52					12																	25702289		2203	4300	6503	SO:0001583	missense	160492																														ENST00000282881.6:c.218G>T	chr12.hg19:g.25702289C>A	ENSP00000282881:p.Gly73Val		B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	hg19	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	C	4.838	0.155802	0.09236	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632;ENST00000538178;ENST00000540106;ENST00000542224	T;T;T	0.13538	2.74;2.77;2.58	3.4	-6.81	0.01704	.	.	.	.	.	T	0.03305	0.0096	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.09377	0.004;0.002;0.001	T	0.36915	-0.9728	9	0.06625	T	0.88	-7.9674	1.5985	0.02669	0.1745:0.4041:0.1887:0.2328	.	94;94;73	Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;ILFT1_HUMAN	V	73;94;94;48;48;48	ENSP00000282881:G73V;ENSP00000407353:G94V;ENSP00000393150:G94V	ENSP00000282881:G73V	G	-	2	0	IFLTD1	25593556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.175000	0.01263	-1.982000	0.00988	0.460000	0.39030	GGT		0.353	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			A	25702289	C	A	25702289	3	1	458	1	0	0	0	0	1	0	0	0	7532	507	18	4	976	4	IFLTD1	12	25702289	Missense_Mutation	SNP	C	TCGA-BQ-5882-01A-11D-1589-08		25702289	108149606	40	25023											
ALG10B	144245	hgsc.bcm.edu	37	12	38714192	38714192	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr12:38714192T>C	ENST00000308742.4	+	3	915	c.599T>C	c.(598-600)gTc>gCc	p.V200A	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	200					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCAGGGAATGTCATTGCACAA	0.388																																																0													167	169	168					12																	38714192		2203	4300	6503	SO:0001583	missense	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.599T>C	chr12.hg19:g.38714192T>C	ENSP00000310120:p.Val200Ala		B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	hg19	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	7.218	0.596709	0.13875	.	.	ENSG00000175548	ENST00000308742	T	0.55760	0.5	3.24	3.24	0.37175	.	0.332405	0.30771	N	0.008920	T	0.35219	0.0924	L	0.31420	0.93	0.80722	D	1	B	0.15719	0.014	B	0.10450	0.005	T	0.10941	-1.0608	10	0.12103	T	0.63	.	10.1623	0.42860	0.0:0.0:0.0:1.0	.	200	Q5I7T1	AG10B_HUMAN	A	200	ENSP00000310120:V200A	ENSP00000310120:V200A	V	+	2	0	ALG10B	37000459	0.999000	0.42202	0.009000	0.14445	0.383000	0.30230	5.798000	0.69095	1.719000	0.51432	0.448000	0.29417	GTC		0.388	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		C	38714192	T	C	38714192	3	2	458	1	0	0	0	0	1	0	0	0	512	1667	58	3	609	3	ALG10B	12	38714192	Missense_Mutation	SNP	T	TCGA-BQ-5882-01A-11D-1589-08	13011903	38714192	95137703	41	25024											
MLL2	8085	hgsc.bcm.edu	37	12	49427714	49427714	+	Missense_Mutation	SNP	T	T	C	rs372758101		TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr12:49427714T>C	ENST00000301067.7	-	39	10773	c.10774A>G	c.(10774-10776)Atg>Gtg	p.M3592V	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3592	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TATTCTGCCATGAGATTAGTG	0.582																																																0								T	VAL/MET	1,4325		0,1,2162	14	13	14		10774	5.4	1	12		14	0,8464		0,0,4232	no	missense	MLL2	NM_003482.3	21	0,1,6394	CC,CT,TT		0.0,0.0231,0.0078	benign	3592/5538	49427714	1,12789	2163	4232	6395	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10774A>G	chr12.hg19:g.49427714T>C	ENSP00000301067:p.Met3592Val		O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	9.346	1.064224	0.20067	2.31E-4	0.0	ENSG00000167548	ENST00000301067	T	0.39056	1.1	5.38	5.38	0.77491	.	0.000000	0.44688	D	0.000428	T	0.25791	0.0628	N	0.08118	0	0.31092	N	0.71073	B	0.26483	0.15	B	0.19946	0.027	T	0.30563	-0.9974	10	0.87932	D	0	.	14.6888	0.69068	0.0:0.0:0.0:1.0	.	3592	O14686	MLL2_HUMAN	V	3592	ENSP00000301067:M3592V	ENSP00000301067:M3592V	M	-	1	0	MLL2	47713981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.118000	0.71583	2.189000	0.69895	0.460000	0.39030	ATG		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49427714	T	C	49427714	3	2	458	1	0	0	0	0	1	0	0	0	9623	1464	51	3	5903	3	MLL2	12	49427714	Missense_Mutation	SNP	T	TCGA-BQ-5882-01A-11D-1589-08	10713522	49427714	84424181	42	25025											
GCN1L1	10985	hgsc.bcm.edu	37	12	120582190	120582190	+	Silent	SNP	G	G	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr12:120582190G>T	ENST00000300648.6	-	42	5427	c.5415C>A	c.(5413-5415)atC>atA	p.I1805I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1805					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTACATGGAGATAACCCGCT	0.597																																																0													58	63	61					12																	120582190		2058	4197	6255	SO:0001819	synonymous_variant	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5415C>A	chr12.hg19:g.120582190G>T			A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	hg19	CCDS41847.1																																																																																				0.597	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			T	120582190	G	T	120582190	2	4	458	1	0	0	0	0	0	0	0	1	6301	932	33	4		4	GCN1L1	12	120582190	Silent	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	71154476	120582190	13269705	43	25026											
C13orf23	80209	hgsc.bcm.edu	37	13	39596542	39596542	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr13:39596542A>T	ENST00000352251.3	-	9	1484	c.651T>A	c.(649-651)taT>taA	p.Y217*	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Nonsense_Mutation_p.Y195*	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	217	Pro-rich.																CTGCATTGTTATAAGCACCTA	0.378																																																0													132	130	131					13																	39596542		2203	4300	6503	SO:0001587	stop_gained	80209			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.651T>A	chr13.hg19:g.39596542A>T	ENSP00000332034:p.Tyr217*		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Nonsense_Mutation	SNP	ENST00000352251.3	hg19	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	A	44	11.133907	0.99521	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	.	.	.	5.69	-5.32	0.02722	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.1752	17.3861	0.87416	0.267:0.0:0.733:0.0	.	.	.	.	X	217;195	.	.	Y	-	3	2	PROSER1	38494542	0.996000	0.38824	0.817000	0.32601	0.961000	0.63080	0.263000	0.18478	-1.201000	0.02659	-0.250000	0.11733	TAT		0.378	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		T	39596542	A	T	39596542	4	4	458	1	0	0	0	0	0	1	0	0	1723	456	16	5	2203	5	C13orf23	13	39596542	Nonsense_Mutation	SNP	A	TCGA-BQ-5882-01A-11D-1589-08		39596542	75573336	44	25027											
TRIM9	114088	hgsc.bcm.edu	37	14	51475908	51475908	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr14:51475908T>C	ENST00000298355.3	-	5	2317	c.1196A>G	c.(1195-1197)cAg>cGg	p.Q399R	TRIM9_ENST00000360392.4_Missense_Mutation_p.Q399R|TRIM9_ENST00000338969.5_Missense_Mutation_p.Q399R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	399	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTTACCCCACTGATCCTCAGT	0.488																																																0													179	132	148					14																	51475908		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1196A>G	chr14.hg19:g.51475908T>C	ENSP00000298355:p.Gln399Arg		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	hg19	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412686	0.83340	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.70986	-0.37;-0.53;0.54	5.94	5.94	0.96194	B-box, C-terminal (1);COS domain (1);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.62723	1.935	0.54753	D	0.99998	D;D;P	0.61697	0.986;0.99;0.901	D;D;P	0.67382	0.951;0.941;0.482	T	0.77872	-0.2426	10	0.26408	T	0.33	.	15.5887	0.76506	0.0:0.0:0.0:1.0	.	399;399;399	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	R	399	ENSP00000298355:Q399R;ENSP00000342970:Q399R;ENSP00000353561:Q399R	ENSP00000298355:Q399R	Q	-	2	0	TRIM9	50545658	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.997000	0.88414	2.275000	0.75901	0.528000	0.53228	CAG		0.488	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		C	51475908	T	C	51475908	3	2	458	1	0	0	0	0	1	0	0	0	16554	1580	55	3	1010	3	TRIM9	14	51475908	Missense_Mutation	SNP	T	TCGA-BQ-5882-01A-11D-1589-08		51475908	55873632	45	25028											
RTL1	388015	hgsc.bcm.edu	37	14	101348358	101348358	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr14:101348358delT	ENST00000534062.1	-	1	2826	c.2768delA	c.(2767-2769)aagfs	p.K923fs	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	923					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGAAGAATCTTCATCTCCGC	0.537																																																0													38	37	37					14																	101348358		1568	3582	5150	SO:0001589	frameshift_variant	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2768delA	chr14.hg19:g.101348358delT	ENSP00000435342:p.Lys923fs		E9PKS8	Frame_Shift_Del	DEL	ENST00000534062.1	hg19	CCDS53910.1																																																																																				0.537	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		-	101348358	T	-	101348358	7	5	458	1	0	1	0	1	0	0	0	0	13730	1609	56	0	1312	0	RTL1	14	101348358	Frame_Shift_Del	DEL	T	TCGA-BQ-5882-01A-11D-1589-08	49872450	101348358	6001182	46	25029											
EARS2	124454	hgsc.bcm.edu	37	16	23540828	23540828	+	Silent	SNP	C	C	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr16:23540828C>T	ENST00000563459.1	-	7	1353	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	EARS2_ENST00000564501.1_Silent_p.V449V|EARS2_ENST00000563232.1_Silent_p.V449V|EARS2_ENST00000449606.1_Silent_p.V449V|EARS2_ENST00000564987.1_5'UTR			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	449					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CTCACCCCAGCACACGCTTGG	0.607																																																0													38	42	41					16																	23540828		2124	4249	6373	SO:0001819	synonymous_variant	124454			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1347G>A	chr16.hg19:g.23540828C>T			B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	hg19	CCDS42132.1																																																																																				0.607	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		T	23540828	C	T	23540828	2	4	458	1	0	0	0	0	0	0	0	1	4880	697	25	2		2	EARS2	16	23540828	Silent	SNP	C	TCGA-BQ-5882-01A-11D-1589-08		23540828	66813925	47	25030											
RNF166	115992	hgsc.bcm.edu	37	16	88765421	88765421	+	Silent	SNP	C	C	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr16:88765421C>A	ENST00000312838.4	-	4	593	c.498G>T	c.(496-498)gtG>gtT	p.V166V	RNF166_ENST00000537718.2_Silent_p.V57V|RNF166_ENST00000568683.1_Silent_p.V57V|RNF166_ENST00000541206.2_Silent_p.V57V|RNF166_ENST00000567844.1_Silent_p.V85V|RP5-1142A6.5_ENST00000561699.1_RNA|RNF166_ENST00000562499.1_5'Flank	NM_178841.3	NP_849163.1	Q96A37	RN166_HUMAN	ring finger protein 166	166							zinc ion binding (GO:0008270)			endometrium(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CACAGTGCTTCACCAGCTCCT	0.677																																																0													52	49	50					16																	88765421		2191	4293	6484	SO:0001819	synonymous_variant	115992			AK057106	CCDS10969.1, CCDS54056.1, CCDS54057.1	16q24.3	2013-01-09			ENSG00000158717	ENSG00000158717		"RING-type (C3HC4) zinc fingers"	28856	protein-coding gene	gene with protein product						12477932	Standard	NM_178841		Approved	MGC2647, MGC14381	uc002flk.3	Q96A37	OTTHUMG00000137863	ENST00000312838.4:c.498G>T	chr16.hg19:g.88765421C>A			B3KQ03|D3DX75|H3BTU8|Q96DM0	Silent	SNP	ENST00000312838.4	hg19	CCDS10969.1																																																																																				0.677	RNF166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269544.1	NM_178841		A	88765421	C	A	88765421	2	1	458	1	0	0	0	0	0	0	0	1	13463	813	29	4		4	RNF166	16	88765421	Silent	SNP	C	TCGA-BQ-5882-01A-11D-1589-08	65224593	88765421	1589332	48	25031											
UNC13D	201294	hgsc.bcm.edu	37	17	73837041	73837041	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr17:73837041A>T	ENST00000207549.4	-	7	990	c.611T>A	c.(610-612)aTg>aAg	p.M204K	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.M204K	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	204	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACTCACCACATGTCCAGATG	0.592									Familial Hemophagocytic Lymphohistiocytosis																																							0													250	240	243					17																	73837041		2203	4300	6503	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.611T>A	chr17.hg19:g.73837041A>T	ENSP00000207549:p.Met204Lys		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	hg19	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830248	0.71258	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.39406	1.08;1.08	4.44	4.44	0.53790	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.059897	0.64402	D	0.000004	T	0.61887	0.2383	M	0.82323	2.585	0.80722	D	1	D;B	0.53312	0.959;0.132	P;B	0.57244	0.816;0.207	T	0.69544	-0.5117	10	0.87932	D	0	.	13.7049	0.62631	1.0:0.0:0.0:0.0	.	204;204	B4DTQ6;Q70J99	.;UN13D_HUMAN	K	204	ENSP00000207549:M204K;ENSP00000388093:M204K	ENSP00000207549:M204K	M	-	2	0	UNC13D	71348636	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.339000	0.90041	1.650000	0.50662	0.460000	0.39030	ATG		0.592	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		T	73837041	A	T	73837041	3	4	458	1	0	0	0	0	1	0	0	0	16992	217	8	5	2765	5	UNC13D	17	73837041	Missense_Mutation	SNP	A	TCGA-BQ-5882-01A-11D-1589-08		73837041	7358169	49	25032											
QRICH2	84074	hgsc.bcm.edu	37	17	74288035	74288035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr17:74288035G>A	ENST00000262765.5	-	4	2454	c.2275C>T	c.(2275-2277)Cag>Tag	p.Q759*		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	759	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGATCTGCCTGAGGTTGCACC	0.522																																																0													181	166	171					17																	74288035		2203	4300	6503	SO:0001587	stop_gained	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2275C>T	chr17.hg19:g.74288035G>A	ENSP00000262765:p.Gln759*		A2RRE1|Q96LM3	Nonsense_Mutation	SNP	ENST00000262765.5	hg19	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	g	38	6.650945	0.97734	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	.	.	.	4.21	0.735	0.18300	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-0.4735	11.7828	0.52023	0.0:0.4377:0.5623:0.0	.	.	.	.	X	759	.	ENSP00000262765:Q759X	Q	-	1	0	QRICH2	71799630	0.000000	0.05858	0.003000	0.11579	0.066000	0.16364	-1.577000	0.02127	0.500000	0.27991	-0.537000	0.04273	CAG		0.522	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		A	74288035	G	A	74288035	4	1	458	1	0	0	0	0	0	1	0	0	12886	1299	45	2	2780	2	QRICH2	17	74288035	Nonsense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	450994	74288035	6907175	50	25033											
TAF4B	6875	hgsc.bcm.edu	37	18	23865865	23865865	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr18:23865865G>A	ENST00000269142.5	+	7	1990	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	TAF4B_ENST00000578121.1_Missense_Mutation_p.R331Q|TAF4B_ENST00000400466.2_Missense_Mutation_p.R331Q	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	331	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GTTGCCTTACGACAACTTCTG	0.408																																																0													117	105	108					18																	23865865		1933	4147	6080	SO:0001583	missense	6875			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.992G>A	chr18.hg19:g.23865865G>A	ENSP00000269142:p.Arg331Gln		Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	hg19	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	g	15.30	2.793145	0.50102	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.49720	0.77;0.77;0.77	5.72	4.83	0.62350	TAFH/NHR1 (3);	0.124363	0.56097	D	0.000033	T	0.62768	0.2455	L	0.58428	1.81	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.961	T	0.58907	-0.7553	10	0.16420	T	0.52	-9.2264	15.6095	0.76704	0.0:0.0:0.861:0.139	.	331;331	Q92750;A4PBF7	TAF4B_HUMAN;.	Q	331	ENSP00000389365:R331Q;ENSP00000269142:R331Q;ENSP00000383314:R331Q	ENSP00000269142:R331Q	R	+	2	0	TAF4B	22119863	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.418000	0.80167	1.388000	0.46506	0.558000	0.71614	CGA		0.408	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		A	23865865	G	A	23865865	3	1	458	1	0	0	0	0	1	0	0	0	15532	1058	37	1	1018	1	TAF4B	18	23865865	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08		23865865	54211383	51	25034											
LPPR3	79948	hgsc.bcm.edu	37	19	814747	814747	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:814747T>C	ENST00000520876.3	-	6	680	c.602A>G	c.(601-603)aAg>aGg	p.K201R	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.K201R	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		201						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										CGGGAAGGTCTTCCTGTAAGA	0.667																																																0													40	33	35					19																	814747		2187	4296	6483	SO:0001583	missense	0																														ENST00000520876.3:c.602A>G	chr19.hg19:g.814747T>C	ENSP00000430297:p.Lys201Arg		Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	hg19	CCDS58636.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010930	0.75046	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876	T;T	0.48201	0.82;0.82	4.77	4.77	0.60923	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	L	0.46567	1.45	0.39303	D	0.964943	P;P;D	0.56746	0.918;0.933;0.977	P;P;P	0.55871	0.596;0.718;0.786	T	0.54370	-0.8304	10	0.35671	T	0.21	-24.8006	12.0107	0.53286	0.0:0.0:0.0:1.0	.	202;201;201	Q6T4P5-2;Q6T4P5;Q6T4P5-3	.;LPPR3_HUMAN;.	R	202;201;201	ENSP00000352962:K201R;ENSP00000430297:K201R	ENSP00000300947:K202R	K	-	2	0	AC006273.1	765747	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.722000	0.61958	1.780000	0.52325	0.454000	0.30748	AAG		0.667	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			C	814747	T	C	814747	3	2	458	1	0	0	0	0	1	0	0	0	8928	1609	56	3	1646	3	LPPR3	19	814747	Missense_Mutation	SNP	T	TCGA-BQ-5882-01A-11D-1589-08		814747	58314236	52	25035											
ZNF607	84775	hgsc.bcm.edu	37	19	38190209	38190209	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:38190209G>T	ENST00000355202.4	-	5	1418	c.823C>A	c.(823-825)Cat>Aat	p.H275N	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H274N	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCTCCAGTATGAATACTCTGA	0.423																																																0													48	48	48					19																	38190209		2203	4300	6503	SO:0001583	missense	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.823C>A	chr19.hg19:g.38190209G>T	ENSP00000347338:p.His275Asn		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	hg19	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708084	0.48412	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.67345	-0.26;-0.26	2.27	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84005	0.5377	M	0.92923	3.36	0.33659	D	0.609455	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.88981	0.3408	9	0.87932	D	0	.	11.6009	0.51001	0.0:0.0:1.0:0.0	.	275;274	Q96SK3;F5H141	ZN607_HUMAN;.	N	275;274	ENSP00000347338:H275N;ENSP00000438015:H274N	ENSP00000347338:H275N	H	-	1	0	ZNF607	42882049	1.000000	0.71417	0.991000	0.47740	0.731000	0.41821	7.908000	0.87438	1.255000	0.44051	0.561000	0.74099	CAT		0.423	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		T	38190209	G	T	38190209	3	4	458	1	0	0	0	0	1	0	0	0	18038	1290	45	4	1271	4	ZNF607	19	38190209	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	37375462	38190209	20938774	53	25036											
SIPA1L3	23094	hgsc.bcm.edu	37	19	38621370	38621370	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:38621370A>C	ENST00000222345.6	+	10	3610	c.3101A>C	c.(3100-3102)aAg>aCg	p.K1034T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1034	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTCACTGTGAAGGTGGTCATC	0.627																																																0													67	60	62					19																	38621370		2203	4300	6503	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3101A>C	chr19.hg19:g.38621370A>C	ENSP00000222345:p.Lys1034Thr		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	hg19	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437903	0.62955	.	.	ENSG00000105738	ENST00000222345	T	0.62788	0.0	5.33	5.33	0.75918	PDZ/DHR/GLGF (2);	0.108901	0.64402	D	0.000008	T	0.33673	0.0871	N	0.00972	-1.085	0.58432	D	0.999992	B	0.33212	0.402	B	0.33846	0.171	T	0.42999	-0.9418	10	0.28530	T	0.3	-40.8953	14.5799	0.68282	1.0:0.0:0.0:0.0	.	1034	O60292	SI1L3_HUMAN	T	1034	ENSP00000222345:K1034T	ENSP00000222345:K1034T	K	+	2	0	SIPA1L3	43313210	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.751000	0.55165	2.148000	0.66965	0.533000	0.62120	AAG		0.627	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		C	38621370	A	C	38621370	3	2	458	1	0	0	0	0	1	0	0	0	14337	72	3	5	3131	5	SIPA1L3	19	38621370	Missense_Mutation	SNP	A	TCGA-BQ-5882-01A-11D-1589-08	431161	38621370	20507613	54	25037											
ZNF780B	163131	hgsc.bcm.edu	37	19	40540344	40540344	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:40540344G>A	ENST00000434248.1	-	5	2487	c.2422C>T	c.(2422-2424)Cct>Tct	p.P808S	ZNF780B_ENST00000221355.6_Missense_Mutation_p.P660S	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	808					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATTCAAAGGGTTTCTCACC	0.393																																																0													59	64	62					19																	40540344		2188	4297	6485	SO:0001583	missense	163131			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.2422C>T	chr19.hg19:g.40540344G>A	ENSP00000391641:p.Pro808Ser		B9EH00	Missense_Mutation	SNP	ENST00000434248.1	hg19	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400412	0.25291	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.06142	3.55;3.34	2.24	1.16	0.20824	Zinc finger, C2H2 (1);	.	.	.	.	T	0.06050	0.0157	L	0.41906	1.305	0.20926	N	0.999822	B	0.02656	0.0	B	0.04013	0.001	T	0.34153	-0.9840	9	0.59425	D	0.04	.	6.6373	0.22889	0.1624:0.0:0.8376:0.0	.	808	Q9Y6R6	Z780B_HUMAN	S	808;660	ENSP00000391641:P808S;ENSP00000221355:P660S	ENSP00000221355:P660S	P	-	1	0	ZNF780B	45232184	0.008000	0.16893	0.148000	0.22405	0.135000	0.20990	0.773000	0.26661	0.135000	0.18707	-0.448000	0.05591	CCT		0.393	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		A	40540344	G	A	40540344	3	1	458	1	0	0	0	0	1	0	0	0	18158	1232	43	2	83	2	ZNF780B	19	40540344	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	1918974	40540344	18588639	55	25038											
CLPTM1	1209	hgsc.bcm.edu	37	19	45495628	45495628	+	Missense_Mutation	SNP	G	G	A	rs369873479		TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:45495628G>A	ENST00000337392.5	+	13	1843	c.1693G>A	c.(1693-1695)Gtt>Att	p.V565I	CLPTM1_ENST00000541297.2_Missense_Mutation_p.V551I|CLPTM1_ENST00000546079.1_Missense_Mutation_p.V463I	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	565					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CAAGATGCCCGTTATGTACCG	0.627																																																0								G	ILE/VAL	0,4406		0,0,2203	203	182	190		1693	4.2	0.4	19		190	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLPTM1	NM_001294.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	565/670	45495628	1,13005	2203	4300	6503	SO:0001583	missense	1209			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1693G>A	chr19.hg19:g.45495628G>A	ENSP00000336994:p.Val565Ile		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	hg19	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191286	0.38707	0.0	1.16E-4	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.21	4.17	0.49024	.	0.186290	0.46758	D	0.000276	T	0.11836	0.0288	N	0.02916	-0.46	0.31931	N	0.612128	P;P	0.40602	0.723;0.602	B;B	0.30316	0.114;0.053	T	0.10636	-1.0621	9	0.17369	T	0.5	-31.7339	9.7828	0.40658	0.0929:0.0:0.9071:0.0	.	551;565	F5H8J3;O96005	.;CLPT1_HUMAN	I	463;551;565;565	.	ENSP00000336994:V565I	V	+	1	0	CLPTM1	50187468	1.000000	0.71417	0.352000	0.25734	0.978000	0.69477	6.750000	0.74888	1.443000	0.47586	0.650000	0.86243	GTT		0.627	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		A	45495628	G	A	45495628	3	1	458	1	0	0	0	0	1	0	0	0	3556	1145	40	1	1743	1	CLPTM1	19	45495628	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08	4955284	45495628	13633355	56	25039											
NLRP2	55655	hgsc.bcm.edu	37	19	55493701	55493701	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:55493701A>T	ENST00000543010.1	+	6	778	c.635A>T	c.(634-636)tAt>tTt	p.Y212F	NLRP2_ENST00000339757.7_Missense_Mutation_p.Y190F|NLRP2_ENST00000448584.2_Missense_Mutation_p.Y212F|NLRP2_ENST00000427260.2_Missense_Mutation_p.Y189F|NLRP2_ENST00000263437.6_Missense_Mutation_p.Y209F|NLRP2_ENST00000391721.4_Missense_Mutation_p.Y188F|NLRP2_ENST00000538819.1_Missense_Mutation_p.Y188F|NLRP2_ENST00000537859.1_Missense_Mutation_p.Y190F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	212	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGGTGCTGTATGGTCCTGCA	0.527																																																0													78	79	79					19																	55493701		2203	4300	6503	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.635A>T	chr19.hg19:g.55493701A>T	ENSP00000445135:p.Tyr212Phe		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	hg19	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	A	9.855	1.194818	0.22037	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	1.62	0.524	0.17066	NACHT nucleoside triphosphatase (1);	1.825070	0.03631	N	0.237909	T	0.71913	0.3396	N	0.10972	0.075	0.09310	N	1	B;B;B;B;P	0.35433	0.213;0.284;0.332;0.284;0.501	B;B;B;B;B	0.41412	0.356;0.128;0.295;0.195;0.295	T	0.63193	-0.6692	10	0.48119	T	0.1	.	4.2437	0.10662	0.6116:0.0:0.3884:0.0	.	189;190;209;188;212	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	F	212;188;190;212;190;189;188;209	ENSP00000445135:Y212F;ENSP00000375601:Y188F;ENSP00000344074:Y190F;ENSP00000409370:Y212F;ENSP00000440601:Y190F;ENSP00000402474:Y189F;ENSP00000441133:Y188F;ENSP00000263437:Y209F	ENSP00000263437:Y209F	Y	+	2	0	NLRP2	60185513	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	0.117000	0.15583	0.085000	0.17107	0.402000	0.26972	TAT		0.527	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		T	55493701	A	T	55493701	3	4	458	1	0	0	0	0	1	0	0	0	10479	449	16	5	653	5	NLRP2	19	55493701	Missense_Mutation	SNP	A	TCGA-BQ-5882-01A-11D-1589-08	9998073	55493701	3635282	57	25040											
RPL3	6122	hgsc.bcm.edu	37	22	39714484	39714484	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr22:39714484C>A	ENST00000216146.4	-	2	290	c.117G>T	c.(115-117)aaG>aaT	p.K39N	SNORD43_ENST00000583861.1_RNA|RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	39					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	GGTGGACCGGCTTGGACGGGT	0.592																																																0													58	54	55					22																	39714484		2203	4298	6501	SO:0001583	missense	6122			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.117G>T	chr22.hg19:g.39714484C>A	ENSP00000346001:p.Lys39Asn		B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	hg19	CCDS13988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.63|16.63	3.175374|3.175374	0.57692|0.57692	.|.	.|.	ENSG00000100316|ENSG00000100316	ENST00000427905|ENST00000216146;ENST00000453303	.|T;T	.|0.49720	.|1.38;0.77	4.5|4.5	3.48|3.48	0.39840|0.39840	.|Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61123|0.61123	0.2322|0.2322	M|M	0.88842|0.88842	2.985|2.985	0.80722|0.80722	D|D	1|1	.|D;P	.|0.57899	.|0.981;0.715	.|P;P	.|0.48982	.|0.597;0.477	T|T	0.69982|0.69982	-0.4997|-0.4997	5|10	.|0.72032	.|D	.|0.01	.|.	12.3136|12.3136	0.54942|0.54942	0.0:0.9173:0.0:0.0827|0.0:0.9173:0.0:0.0827	.|.	.|39;39	.|P39023;B3KS36	.|RL3_HUMAN;.	S|N	71|39;66	.|ENSP00000346001:K39N;ENSP00000415198:K66N	.|ENSP00000346001:K39N	A|K	-|-	1|3	0|2	RPL3|RPL3	38044430|38044430	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.431000|0.431000	0.31685|0.31685	2.393000|2.393000	0.44442|0.44442	0.884000|0.884000	0.36064|0.36064	0.455000|0.455000	0.32223|0.32223	GCC|AAG		0.592	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		A	39714484	C	A	39714484	3	1	458	1	0	0	0	0	1	0	0	0	13585	796	28	4	1130	4	RPL3	22	39714484	Missense_Mutation	SNP	C	TCGA-BQ-5882-01A-11D-1589-08		39714484	11590082	58	25041											
EFCAB6	64800	hgsc.bcm.edu	37	22	44107398	44107399	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr22:44107398_44107399insA	ENST00000262726.7	-	10	1240_1241	c.987_988insT	c.(985-990)tttgtafs	p.V330fs	EFCAB6_ENST00000358439.4_Frame_Shift_Ins_p.V224fs|EFCAB6_ENST00000396231.2_Frame_Shift_Ins_p.V178fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	330	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATTTGGTATACAAAAGTGTCGA	0.381																																																0																																										SO:0001589	frameshift_variant	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.988dupT	chr22.hg19:g.44107402_44107402dupA	ENSP00000262726:p.Val330fs		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Frame_Shift_Ins	INS	ENST00000262726.7	hg19	CCDS14049.1																																																																																				0.381	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		A	44107399	-	A	44107398	7	5	458	1	0	1	1	0	0	0	0	0	4941	478	17	0	3609	0	EFCAB6	22	44107398	Frame_Shift_Ins	INS	-	TCGA-BQ-5882-01A-11D-1589-08	4392914	44107398	7197168	59	25042											
YY2	404281	hgsc.bcm.edu	37	X	21875588	21875588	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chrX:21875588G>A	ENST00000429584.2	+	1	1484	c.986G>A	c.(985-987)cGc>cAc	p.R329H	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	329	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TTCAATTTGCGCACACACTTG	0.532																																																0													182	181	181					X																	21875588		2203	4300	6503	SO:0001583	missense	404281			AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.986G>A	chrX.hg19:g.21875588G>A	ENSP00000389381:p.Arg329His		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	hg19	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787837	0.90367	.	.	ENSG00000230797	ENST00000429584	T	0.41400	1.0	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.52273	0.1724	L	0.35288	1.05	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53222	-0.8469	10	0.52906	T	0.07	.	14.034	0.64634	0.0:0.0:1.0:0.0	.	329	O15391	TYY2_HUMAN	H	329	ENSP00000389381:R329H	ENSP00000389381:R329H	R	+	2	0	YY2	21785509	1.000000	0.71417	0.992000	0.48379	0.757000	0.42996	7.776000	0.85560	2.276000	0.75962	0.544000	0.68410	CGC		0.532	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		A	21875588	G	A	21875588	3	1	458	1	0	0	0	0	1	0	0	0	17514	1087	38	1	988	1	YY2	23	21875588	Missense_Mutation	SNP	G	TCGA-BQ-5882-01A-11D-1589-08		21875588	133394972	60	25043											
KIAA0090	23065	hgsc.bcm.edu	37	1	19545821	19545821	+	Silent	SNP	C	C	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr1:19545821C>T	ENST00000477853.1	-	23	3000	c.2958G>A	c.(2956-2958)aaG>aaA	p.K986K	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000480380.1_5'UTR|EMC1_ENST00000375208.3_Silent_p.K964K|EMC1_ENST00000375199.3_Silent_p.K985K	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	986						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GATTCAGGAGCTTCACCTGTG	0.502																																																0													76	71	72					1																	19545821		2203	4300	6503	SO:0001819	synonymous_variant	23065				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2958G>A	chr1.hg19:g.19545821C>T			A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	hg19	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059255	0.19987	.	.	ENSG00000127463	ENST00000375197	.	.	.	6.06	-0.986	0.10252	.	.	.	.	.	T	0.58977	0.2160	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56153	-0.8026	4	.	.	.	.	12.1403	0.53994	0.0:0.5935:0.0:0.4065	.	.	.	.	T	611	.	.	A	-	1	0	KIAA0090	19418408	0.934000	0.31675	0.995000	0.50966	0.993000	0.82548	0.012000	0.13287	-0.119000	0.11830	-0.312000	0.09012	GCT		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		T	19545821	C	T	19545821	2	4	459	1	0	0	0	0	0	0	0	1	8155	796	28	2		2	KIAA0090	1	19545821	Silent	SNP	C	TCGA-BQ-5883-01A-11D-1589-08		19545821	229704800	1	25044											
KIF3C	3797	hgsc.bcm.edu	37	2	26203576	26203576	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr2:26203576G>A	ENST00000264712.3	-	1	1790	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	KIF3C_ENST00000405914.1_Missense_Mutation_p.P404L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	404					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCTCCGGGGCCGCTTCCC	0.652																																																0													46	48	47					2																	26203576		2203	4300	6503	SO:0001583	missense	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1211C>T	chr2.hg19:g.26203576G>A	ENSP00000264712:p.Pro404Leu		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	hg19	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	8.691	0.907521	0.17833	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.73258	-0.73;-0.73	5.0	4.04	0.47022	Kinesin, motor domain (1);	0.465840	0.23937	N	0.043100	T	0.46580	0.1400	N	0.12182	0.205	0.40162	D	0.977078	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34453	-0.9828	10	0.27082	T	0.32	.	4.7743	0.13171	0.2331:0.0:0.7669:0.0	.	404;404	B7ZM25;O14782	.;KIF3C_HUMAN	L	404;210;404	ENSP00000264712:P404L;ENSP00000385030:P404L	ENSP00000264712:P404L	P	-	2	0	KIF3C	26057080	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.612000	0.46343	1.249000	0.43950	0.655000	0.94253	CCC		0.652	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			A	26203576	G	A	26203576	3	1	459	1	0	0	0	0	1	0	0	0	8304	1232	43	2	1202	2	KIF3C	2	26203576	Missense_Mutation	SNP	G	TCGA-BQ-5883-01A-11D-1589-08		26203576	216995797	2	25045											
SMPD4	55627	hgsc.bcm.edu	37	2	130931124	130931124	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr2:130931124C>T	ENST00000409031.1	-	4	1497	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	SMPD4_ENST00000339679.7_Missense_Mutation_p.C29Y|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000351288.6_Missense_Mutation_p.V117M|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000443958.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	78					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTGTACTCCACAGGATTCACG	0.542																																																0													59	54	56					2																	130931124		2203	4300	6503	SO:0001583	missense	55627			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.349G>A	chr2.hg19:g.130931124C>T	ENSP00000386531:p.Val117Met		B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	hg19	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.864|0.864	-0.734336|-0.734336	0.03111|0.03111	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000339679|ENST00000351288;ENST00000409031;ENST00000441135	.|.	.|.	.|.	3.74|3.74	0.579|0.579	0.17397|0.17397	.|.	.|0.842482	.|0.10004	.|N	.|0.728107	T|T	0.30230|0.30230	0.0758|0.0758	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	B|B;B	0.02656|0.15719	0.0|0.014;0.007	B|B;B	0.01281|0.17098	0.0|0.017;0.008	T|T	0.27640|0.27640	-1.0068|-1.0068	8|9	0.22109|0.36615	T|T	0.4|0.2	.|.	3.3119|3.3119	0.07020|0.07020	0.0:0.4028:0.2084:0.3888|0.0:0.4028:0.2084:0.3888	.|.	29|78;117	B4E0T5|Q9NXE4;B1PBA3	.|NSMA3_HUMAN;.	Y|M	29|117;117;78	.|.	ENSP00000339721:C29Y|ENSP00000259217:V117M	C|V	-|-	2|1	0|0	SMPD4|SMPD4	130647594|130647594	0.367000|0.367000	0.25023|0.25023	0.045000|0.045000	0.18777|0.18777	0.188000|0.188000	0.23474|0.23474	1.298000|1.298000	0.33412|0.33412	0.248000|0.248000	0.21435|0.21435	0.455000|0.455000	0.32223|0.32223	TGT|GTG		0.542	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		T	130931124	C	T	130931124	3	4	459	1	0	0	0	0	1	0	0	0	14813	478	17	2	2319	2	SMPD4	2	130931124	Missense_Mutation	SNP	C	TCGA-BQ-5883-01A-11D-1589-08	104727548	130931124	112268249	3	25046											
TRIM71	131405	hgsc.bcm.edu	37	3	32927537	32927537	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr3:32927537C>A	ENST00000383763.5	+	3	1195	c.1132C>A	c.(1132-1134)Cgc>Agc	p.R378S		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	378					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTGGAGGAACGCGAGTGTGA	0.612																																																0													74	85	81					3																	32927537		2153	4244	6397	SO:0001583	missense	131405				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1132C>A	chr3.hg19:g.32927537C>A	ENSP00000373272:p.Arg378Ser			Missense_Mutation	SNP	ENST00000383763.5	hg19	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613528	0.66672	.	.	ENSG00000206557	ENST00000383763	D	0.85171	-1.95	5.0	2.98	0.34508	.	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.54815	0.761	D	0.84124	0.0408	10	0.72032	D	0.01	-29.8714	12.0485	0.53493	0.3404:0.6596:0.0:0.0	.	378	Q2Q1W2	LIN41_HUMAN	S	378	ENSP00000373272:R378S	ENSP00000373272:R378S	R	+	1	0	TRIM71	32902541	0.999000	0.42202	0.998000	0.56505	0.688000	0.40055	0.771000	0.26633	2.318000	0.78349	0.462000	0.41574	CGC		0.612	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		A	32927537	C	A	32927537	3	1	459	1	0	0	0	0	1	0	0	0	16549	536	19	4	1142	4	TRIM71	3	32927537	Missense_Mutation	SNP	C	TCGA-BQ-5883-01A-11D-1589-08		32927537	165094893	4	25047											
ENTPD3	956	hgsc.bcm.edu	37	3	40465427	40465427	+	Silent	SNP	T	T	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr3:40465427T>A	ENST00000301825.3	+	10	1444	c.1326T>A	c.(1324-1326)acT>acA	p.T442T	ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.T442T|ENTPD3_ENST00000445129.1_Silent_p.T442T	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	442					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CAGAGGAGACTTGGCCCCAAA	0.408																																																0													118	109	112					3																	40465427		2203	4300	6503	SO:0001819	synonymous_variant	956			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.1326T>A	chr3.hg19:g.40465427T>A			B2R8D0|G5E9N0|O60495|Q8N6K2	Silent	SNP	ENST00000301825.3	hg19	CCDS2691.1																																																																																				0.408	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		A	40465427	T	A	40465427	2	1	459	1	0	0	0	0	0	0	0	1	5142	1596	56	5		5	ENTPD3	3	40465427	Silent	SNP	T	TCGA-BQ-5883-01A-11D-1589-08	7537890	40465427	157557003	5	25048											
CENPC1	1060	hgsc.bcm.edu	37	4	68338326	68338326	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr4:68338326T>A	ENST00000273853.6	-	19	3079	c.2829A>T	c.(2827-2829)agA>agT	p.R943S		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	943	MIF2 homology domain III.				chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TGATCTTTCATCTTTTTATCT	0.249																																																0													25	23	24					4																	68338326		1675	3879	5554	SO:0001583	missense	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2829A>T	chr4.hg19:g.68338326T>A	ENSP00000273853:p.Arg943Ser		Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	hg19	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126153	0.56721	.	.	ENSG00000145241	ENST00000273853	.	.	.	3.59	-2.03	0.07365	.	0.474882	0.18938	N	0.127023	T	0.15478	0.0373	N	0.12182	0.205	0.27738	N	0.944564	B	0.19445	0.036	B	0.12837	0.008	T	0.07693	-1.0759	9	0.72032	D	0.01	.	3.7757	0.08659	0.5677:0.1197:0.0:0.3126	.	943	Q03188	CENPC_HUMAN	S	943	.	ENSP00000273853:R943S	R	-	3	2	CENPC1	68020921	0.998000	0.40836	0.995000	0.50966	0.790000	0.44656	0.133000	0.15912	-0.350000	0.08262	0.402000	0.26972	AGA		0.249	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			A	68338326	T	A	68338326	3	1	459	1	0	0	0	0	1	0	0	0	3231	1432	50	5	6	5	CENPC1	4	68338326	Missense_Mutation	SNP	T	TCGA-BQ-5883-01A-11D-1589-08		68338326	122815950	6	25049											
KIAA1109	84162	hgsc.bcm.edu	37	4	123264653	123264653	+	Silent	SNP	C	C	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr4:123264653C>G	ENST00000264501.4	+	73	12814	c.12441C>G	c.(12439-12441)ggC>ggG	p.G4147G	KIAA1109_ENST00000388738.3_Silent_p.G4147G			Q2LD37	K1109_HUMAN	KIAA1109	4147	Ser-rich.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTCATCTGGCTTGAGCTTCA	0.478																																																0													121	111	114					4																	123264653		1972	4163	6135	SO:0001819	synonymous_variant	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12441C>G	chr4.hg19:g.123264653C>G			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.957|8.957	0.969706|0.969706	0.18659|0.18659	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000442707	.|.	.|.	.|.	5.78|5.78	-3.62|-3.62	0.04543|0.04543	.|.	.|.	.|.	.|.	.|.	T|T	0.40767|0.40767	0.1130|0.1130	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.37337|0.37337	-0.9710|-0.9710	4|4	.|.	.|.	.|.	.|.	4.0748|4.0748	0.09899|0.09899	0.0995:0.2869:0.4148:0.1987|0.0995:0.2869:0.4148:0.1987	.|.	.|.	.|.	.|.	G|V	523|93	.|.	.|.	A|L	+|+	2|1	0|0	KIAA1109|KIAA1109	123484103|123484103	0.019000|0.019000	0.18553|0.18553	0.092000|0.092000	0.20876|0.20876	0.981000|0.981000	0.71138|0.71138	-0.715000|-0.715000	0.04997|0.04997	-0.295000|-0.295000	0.08960|0.08960	0.591000|0.591000	0.81541|0.81541	GCT|CTT		0.478	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		G	123264653	C	G	123264653	2	3	459	1	0	0	0	0	0	0	0	1	8210	784	28	4		4	KIAA1109	4	123264653	Silent	SNP	C	TCGA-BQ-5883-01A-11D-1589-08	54926327	123264653	67889623	7	25050											
PCDHA9	9752	hgsc.bcm.edu	37	5	140229899	140229899	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr5:140229899C>T	ENST00000532602.1	+	1	2852	c.1819C>T	c.(1819-1821)Ctt>Ttt	p.L607F	PCDHA9_ENST00000378122.3_Missense_Mutation_p.L607F|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	607	Cadherin 6. {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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGTGGCTTTCATACGA	0.672																																					Melanoma(55;1800 1972 14909)											0													64	70	68					5																	140229899		2196	4268	6464	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1819C>T	chr5.hg19:g.140229899C>T	ENSP00000436042:p.Leu607Phe		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	hg19	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518012	0.44763	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.53640	0.61;0.61	3.36	3.36	0.38483	Cadherin (4);Cadherin-like (1);	0.000000	0.26156	U	0.026019	T	0.70544	0.3236	M	0.89478	3.035	0.28601	N	0.909177	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.66756	-0.5843	10	0.87932	D	0	.	11.3375	0.49513	0.0:0.8154:0.1846:0.0	.	607;607	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	F	607	ENSP00000436042:L607F;ENSP00000367362:L607F	ENSP00000367362:L607F	L	+	1	0	PCDHA9	140210083	0.962000	0.33011	1.000000	0.80357	0.276000	0.26787	0.080000	0.14802	1.839000	0.53478	0.313000	0.20887	CTT		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		T	140229899	C	T	140229899	3	4	459	1	0	0	0	0	1	0	0	0	11533	797	28	2	1821	2	PCDHA9	5	140229899	Missense_Mutation	SNP	C	TCGA-BQ-5883-01A-11D-1589-08		140229899	40685361	8	25051											
KCNB2	9312	hgsc.bcm.edu	37	8	73850210	73850210	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr8:73850210G>T	ENST00000523207.1	+	3	3208	c.2620G>T	c.(2620-2622)Gtc>Ttc	p.V874F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	874					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGTGAGTGAAGTCAAAAAGGA	0.493																																																0													94	91	92					8																	73850210		2203	4300	6503	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2620G>T	chr8.hg19:g.73850210G>T	ENSP00000430846:p.Val874Phe		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	hg19	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	8.944	0.966598	0.18659	.	.	ENSG00000182674	ENST00000523207	D	0.97303	-4.33	5.46	3.64	0.41730	.	1.710450	0.04454	U	0.373160	D	0.93805	0.8019	L	0.29908	0.895	0.23994	N	0.996234	B	0.19445	0.036	B	0.15052	0.012	D	0.85473	0.1174	10	0.45353	T	0.12	.	6.0774	0.19923	0.0712:0.1353:0.6532:0.1403	.	874	Q92953	KCNB2_HUMAN	F	874	ENSP00000430846:V874F	ENSP00000430846:V874F	V	+	1	0	KCNB2	74012764	0.805000	0.28982	0.063000	0.19743	0.690000	0.40134	1.546000	0.36179	0.841000	0.35020	0.591000	0.81541	GTC		0.493	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		T	73850210	G	T	73850210	3	4	459	1	0	0	0	0	1	0	0	0	8015	1029	36	4	2626	4	KCNB2	8	73850210	Missense_Mutation	SNP	G	TCGA-BQ-5883-01A-11D-1589-08		73850210	72513812	9	25052											
ADCY8	114	hgsc.bcm.edu	37	8	131916171	131916174	+	Frame_Shift_Del	DEL	TAAG	TAAG	-			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	TAAG	TAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr8:131916171_131916174delTAAG	ENST00000286355.5	-	7	3847_3850	c.1755_1758delCTTA	c.(1753-1758)tacttafs	p.YL585fs	ADCY8_ENST00000377928.3_Frame_Shift_Del_p.YL585fs	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	585					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGCTTAATTAAGTAAGTTTCGA	0.49										HNSCC(32;0.087)																																						0																																										SO:0001589	frameshift_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1755_1758delCTTA	chr8.hg19:g.131916175_131916178delTAAG	ENSP00000286355:p.Tyr585fs			Frame_Shift_Del	DEL	ENST00000286355.5	hg19	CCDS6363.1																																																																																				0.49	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			-	131916174	TAAG	-	131916171	7	5	459	1	0	1	0	1	0	0	0	0	300	1751	61	0	2045	0	ADCY8	8	131916171	Frame_Shift_Del	DEL	TAAG	TCGA-BQ-5883-01A-11D-1589-08	58065961	131916171	14447851	10	25053											
TMEM2	23670	hgsc.bcm.edu	37	9	74300679	74300679	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr9:74300679G>C	ENST00000377044.4	-	23	4474	c.3935C>G	c.(3934-3936)cCa>cGa	p.P1312R	TMEM2_ENST00000377066.5_Missense_Mutation_p.P1249R|TMEM2_ENST00000396272.3_Missense_Mutation_p.P305R	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1312					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AAGATGAGCTGGTTTGGCTAA	0.373																																																0													115	107	110					9																	74300679		2203	4300	6503	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3935C>G	chr9.hg19:g.74300679G>C	ENSP00000366243:p.Pro1312Arg		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	hg19	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553987	0.65425	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.73469	-0.75;-0.68;2.49	5.78	5.78	0.91487	.	0.109175	0.64402	D	0.000005	T	0.78842	0.4347	M	0.61703	1.905	0.48087	D	0.999587	P;P	0.47604	0.836;0.898	B;P	0.47299	0.342;0.543	T	0.79548	-0.1758	10	0.52906	T	0.07	.	19.6126	0.95616	0.0:0.0:1.0:0.0	.	1312;1249	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	R	1312;1249;305	ENSP00000366243:P1312R;ENSP00000366266:P1249R;ENSP00000379569:P305R	ENSP00000366243:P1312R	P	-	2	0	TMEM2	73490499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.685000	0.74543	2.730000	0.93505	0.650000	0.86243	CCA		0.373	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		C	74300679	G	C	74300679	3	2	459	1	0	0	0	0	1	0	0	0	16126	1348	47	4	224	4	TMEM2	9	74300679	Missense_Mutation	SNP	G	TCGA-BQ-5883-01A-11D-1589-08		74300679	66912752	11	25054											
TDRD1	56165	hgsc.bcm.edu	37	10	115978231	115978231	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr10:115978231A>T	ENST00000369280.1	+	18	2842	c.2382A>T	c.(2380-2382)aaA>aaT	p.K794N	TDRD1_ENST00000422662.1_Missense_Mutation_p.K398N|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369282.1_Missense_Mutation_p.K794N|TDRD1_ENST00000251864.2_Missense_Mutation_p.K794N			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	794	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GACATGTTAAAGTACATTTTG	0.373																																																0													202	183	190					10																	115978231		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2382A>T	chr10.hg19:g.115978231A>T	ENSP00000358286:p.Lys794Asn		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	hg19		.	.	.	.	.	.	.	.	.	.	A	16.91	3.252942	0.59212	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000422662;ENST00000369280	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.93	4.8	0.61643	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.542996	0.21329	N	0.076323	T	0.28466	0.0704	M	0.63843	1.955	0.38193	D	0.939969	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.95;0.998;0.999	T	0.03981	-1.0987	10	0.62326	D	0.03	-24.3657	10.4344	0.44426	0.9269:0.0:0.0731:0.0	.	398;794;794	Q9BXT4-4;Q9BXT4;Q9BXT4-3	.;TDRD1_HUMAN;.	N	794;794;398;794	ENSP00000358288:K794N;ENSP00000251864:K794N;ENSP00000402794:K398N;ENSP00000358286:K794N	ENSP00000251864:K794N	K	+	3	2	TDRD1	115968221	0.923000	0.31300	0.942000	0.38095	0.647000	0.38526	1.723000	0.38053	1.082000	0.41137	0.533000	0.62120	AAA		0.373	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			T	115978231	A	T	115978231	3	4	459	1	0	0	0	0	1	0	0	0	15735	69	3	5	2448	5	TDRD1	10	115978231	Missense_Mutation	SNP	A	TCGA-BQ-5883-01A-11D-1589-08		115978231	19556516	12	25055											
MMP21	118856	hgsc.bcm.edu	37	10	127459092	127459092	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr10:127459092C>T	ENST00000368808.3	-	5	1047	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	350					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	CTCACCATCACCTCTCCATAT	0.413																																																0													191	172	178					10																	127459092		2203	4300	6503	SO:0001583	missense	118856			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1048G>A	chr10.hg19:g.127459092C>T	ENSP00000357798:p.Val350Met		Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	hg19	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165493	0.38217	.	.	ENSG00000154485	ENST00000368808	T	0.20332	2.08	5.62	-0.228	0.13098	Hemopexin/matrixin (2);	0.651830	0.14795	N	0.297980	T	0.12987	0.0315	N	0.22421	0.69	0.09310	N	1	B	0.19935	0.04	B	0.15484	0.013	T	0.21793	-1.0235	10	0.59425	D	0.04	-28.7392	9.267	0.37647	0.0:0.2518:0.5805:0.1677	.	350	Q8N119	MMP21_HUMAN	M	350	ENSP00000357798:V350M	ENSP00000357798:V350M	V	-	1	0	MMP21	127449082	0.001000	0.12720	0.000000	0.03702	0.638000	0.38207	-0.056000	0.11787	-0.027000	0.13873	-0.150000	0.13652	GTG		0.413	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			T	127459092	C	T	127459092	3	4	459	1	0	0	0	0	1	0	0	0	9662	507	18	2	673	2	MMP21	10	127459092	Missense_Mutation	SNP	C	TCGA-BQ-5883-01A-11D-1589-08	11480861	127459092	8075655	13	25056											
DCPS	28960	hgsc.bcm.edu	37	11	126201299	126201299	+	Splice_Site	SNP	G	G	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr11:126201299G>T	ENST00000263579.4	+	3	705		c.e3-1		DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger						cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		TATCATTGCAGATGTAAAGAC	0.567																																																0													137	131	133					11																	126201299		2201	4298	6499	SO:0001630	splice_region_variant	28960			AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.377-1G>T	chr11.hg19:g.126201299G>T			Q8NHL8|Q9Y2S5	Splice_Site	SNP	ENST00000263579.4	hg19	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584618	0.46110	.	.	ENSG00000110063	ENST00000263579	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9226	0.92530	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCPS	125706509	1.000000	0.71417	0.996000	0.52242	0.450000	0.32258	8.744000	0.91596	2.778000	0.95560	0.655000	0.94253	.		0.567	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026	Intron	T	126201299	G	T	126201299	5	4	459	1	0	0	0	0	0	0	1	0	4303	956	33	4	386	4	DCPS	11	126201299	Splice_Site	SNP	G	TCGA-BQ-5883-01A-11D-1589-08		126201299	8805217	14	25057											
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		T	25398284	C	T	25398284	3	4	459	1	0	0	0	0	1	0	0	0	8440	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-BQ-5883-01A-11D-1589-08		25398284	108453611	15	25058											
OR10AD1	121275	hgsc.bcm.edu	37	12	48596939	48596939	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr12:48596939A>G	ENST00000310248.2	-	1	231	c.137T>C	c.(136-138)aTc>aCc	p.I46T		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GGTGATAAAGATGATGAGGCC	0.542																																																0													96	81	86					12																	48596939		2203	4300	6503	SO:0001583	missense	121275				CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"GPCR / Class A : Olfactory receptors"	14819	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily AD, member 1 pseudogene"	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.137T>C	chr12.hg19:g.48596939A>G	ENSP00000308689:p.Ile46Thr		B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	hg19	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762337	0.49468	.	.	ENSG00000172640	ENST00000310248	T	0.00531	6.76	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.189939	0.25929	N	0.027383	T	0.01061	0.0035	M	0.79475	2.455	0.33098	D	0.53878	D	0.59357	0.985	P	0.50537	0.643	T	0.47586	-0.9106	10	0.72032	D	0.01	-30.4283	12.9182	0.58216	1.0:0.0:0.0:0.0	.	46	Q8NGE0	O10AD_HUMAN	T	46	ENSP00000308689:I46T	ENSP00000308689:I46T	I	-	2	0	OR10AD1	46883206	0.910000	0.30920	1.000000	0.80357	0.519000	0.34347	6.493000	0.73658	2.213000	0.71641	0.533000	0.62120	ATC		0.542	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			G	48596939	A	G	48596939	3	3	459	1	0	0	0	0	1	0	0	0	10898	333	12	3	820	3	OR10AD1	12	48596939	Missense_Mutation	SNP	A	TCGA-BQ-5883-01A-11D-1589-08	23198655	48596939	85254956	16	25059											
STON2	85439	hgsc.bcm.edu	37	14	81862455	81862455	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr14:81862455C>G	ENST00000267540.2	-	2	356	c.156G>C	c.(154-156)gaG>gaC	p.E52D	STON2_ENST00000555447.1_Missense_Mutation_p.E52D	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	52					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CCACATGGTTCTCCCCGGAGG	0.577																																																0													71	64	66					14																	81862455		2203	4300	6503	SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.156G>C	chr14.hg19:g.81862455C>G	ENSP00000267540:p.Glu52Asp		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	hg19	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938177	0.52972	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.54866	0.55;0.55	5.8	1.95	0.26073	Stonin-2, N-terminal (1);	0.362161	0.29040	N	0.013335	T	0.44456	0.1294	L	0.59436	1.845	0.23309	N	0.997936	P;B;P	0.35714	0.517;0.334;0.461	B;B;B	0.36504	0.226;0.122;0.145	T	0.43702	-0.9375	10	0.87932	D	0	-12.0903	5.4312	0.16454	0.0:0.4999:0.2873:0.2127	.	52;52;52	Q8WXE9;Q17R23;G3V2T7	STON2_HUMAN;.;.	D	52;64;52	ENSP00000450857:E52D;ENSP00000267540:E52D	ENSP00000267540:E52D	E	-	3	2	STON2	80932208	0.910000	0.30920	0.991000	0.47740	0.836000	0.47400	-0.309000	0.08145	0.801000	0.34066	-0.179000	0.13096	GAG		0.577	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		G	81862455	C	G	81862455	3	3	459	1	0	0	0	0	1	0	0	0	15323	912	32	4	2575	4	STON2	14	81862455	Missense_Mutation	SNP	C	TCGA-BQ-5883-01A-11D-1589-08		81862455	25487085	17	25060											
MFAP1	4236	hgsc.bcm.edu	37	15	44109600	44109600	+	Silent	SNP	T	T	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr15:44109600T>G	ENST00000267812.3	-	2	358	c.126A>C	c.(124-126)ggA>ggC	p.G42G		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	42					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTGGCCTTTTTCCGGACACAT	0.433																																																0													128	118	121					15																	44109600		2198	4298	6496	SO:0001819	synonymous_variant	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.126A>C	chr15.hg19:g.44109600T>G			Q86TG6	Silent	SNP	ENST00000267812.3	hg19	CCDS10105.1																																																																																				0.433	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		G	44109600	T	G	44109600	2	3	459	1	0	0	0	0	0	0	0	1	9515	1770	62	5		5	MFAP1	15	44109600	Silent	SNP	T	TCGA-BQ-5883-01A-11D-1589-08		44109600	58421792	18	25061											
LASS3	204219	hgsc.bcm.edu	37	15	101013174	101013174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr15:101013174delC	ENST00000394113.1	-	11	1383	c.693delG	c.(691-693)gggfs	p.G231fs	CERS3_ENST00000284382.4_Frame_Shift_Del_p.G231fs|CERS3_ENST00000538112.2_Frame_Shift_Del_p.G231fs|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	231	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TCACGAGGGTCCCACTGCGAA	0.433																																																0													118	101	107					15																	101013174		2203	4300	6503	SO:0001589	frameshift_variant	204219				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.693delG	chr15.hg19:g.101013174delC	ENSP00000377672:p.Gly231fs		Q8NE64|Q8NEN6	Frame_Shift_Del	DEL	ENST00000394113.1	hg19	CCDS10384.1																																																																																				0.433	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		-	101013174	C	-	101013174	7	5	459	1	0	1	0	1	0	0	0	0	8642	842	30	0	474	0	LASS3	15	101013174	Frame_Shift_Del	DEL	C	TCGA-BQ-5883-01A-11D-1589-08	56903574	101013174	1518218	19	25062											
RBBP8	5932	hgsc.bcm.edu	37	18	20573491	20573491	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr18:20573491C>G	ENST00000399722.2	+	11	2052	c.1701C>G	c.(1699-1701)tgC>tgG	p.C567W	RBBP8_ENST00000327155.5_Missense_Mutation_p.C567W|RBBP8_ENST00000399725.2_Missense_Mutation_p.C567W|RBBP8_ENST00000360790.5_Missense_Mutation_p.C567W	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	567					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TGAATAAATGCTCTCCAGACA	0.438								Homologous recombination																																								0													42	43	43					18																	20573491		2203	4300	6503	SO:0001583	missense	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1701C>G	chr18.hg19:g.20573491C>G	ENSP00000382628:p.Cys567Trp		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	hg19	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	8.135	0.783853	0.16189	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.30182	1.56;1.54;1.56;1.56;1.56	5.47	-1.84	0.07809	.	0.955160	0.08781	N	0.894641	T	0.13713	0.0332	N	0.08118	0	0.80722	D	1	B;B;B	0.26845	0.161;0.161;0.05	B;B;B	0.27262	0.078;0.078;0.078	T	0.11348	-1.0591	10	0.42905	T	0.14	2.5577	4.5073	0.11894	0.398:0.2625:0.0:0.3395	.	567;567;567	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	W	567	ENSP00000323050:C567W;ENSP00000382630:C567W;ENSP00000382628:C567W;ENSP00000382627:C567W;ENSP00000354024:C567W	ENSP00000323050:C567W	C	+	3	2	RBBP8	18827489	0.237000	0.23815	0.580000	0.28601	0.726000	0.41606	-0.151000	0.10175	-0.215000	0.10063	-0.150000	0.13652	TGC		0.438	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		G	20573491	C	G	20573491	3	3	459	1	0	0	0	0	1	0	0	0	13111	805	28	4	1739	4	RBBP8	18	20573491	Missense_Mutation	SNP	C	TCGA-BQ-5883-01A-11D-1589-08		20573491	57503757	20	25063											
ZFP30	22835	hgsc.bcm.edu	37	19	38126264	38126264	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr19:38126264C>T	ENST00000351218.2	-	6	1735	c.1178G>A	c.(1177-1179)cGt>cAt	p.R393H	ZFP30_ENST00000514101.2_Missense_Mutation_p.R393H|ZFP30_ENST00000392144.1_Missense_Mutation_p.R393H|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTGAGTAACGACGAAAGAA	0.408																																																0													69	72	71					19																	38126264		2203	4300	6503	SO:0001583	missense	22835			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"Zinc fingers, C2H2-type", "-"	29555	protein-coding gene	gene with protein product			"zinc finger protein 30 homolog (mouse)"			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1178G>A	chr19.hg19:g.38126264C>T	ENSP00000343581:p.Arg393His		Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	hg19	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	8.628	0.893085	0.17613	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.36340	1.26;1.26;1.26	3.9	2.86	0.33363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35262	N	0.003340	T	0.34716	0.0907	L	0.27975	0.815	0.23851	N	0.996661	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.33059	-0.9883	10	0.11485	T	0.65	.	3.6934	0.08354	0.0:0.5686:0.2232:0.2082	.	393;393	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	H	393;393;393;308	ENSP00000343581:R393H;ENSP00000422930:R393H;ENSP00000375988:R393H	ENSP00000343581:R393H	R	-	2	0	ZFP30	42818104	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.122000	0.10627	2.175000	0.68902	0.591000	0.81541	CGT		0.408	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		T	38126264	C	T	38126264	3	4	459	1	0	0	0	0	1	0	0	0	17649	536	19	1	385	1	ZFP30	19	38126264	Missense_Mutation	SNP	C	TCGA-BQ-5883-01A-11D-1589-08		38126264	21002719	21	25064											
ARFGEF2	10564	hgsc.bcm.edu	37	20	47632919	47632919	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr20:47632919G>A	ENST00000371917.4	+	31	4282	c.4282G>A	c.(4282-4284)Gta>Ata	p.V1428I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1428					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCTTTCTGATGTATTTGCACA	0.353																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													208	185	193					20																	47632919		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4282G>A	chr20.hg19:g.47632919G>A	ENSP00000360985:p.Val1428Ile		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	hg19	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	7.760	0.705132	0.15172	.	.	ENSG00000124198	ENST00000371917	T	0.38722	1.12	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.054023	0.64402	D	0.000002	T	0.11580	0.0282	N	0.00841	-1.15	0.43069	D	0.994705	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	10	0.02654	T	1	.	7.2277	0.26024	0.206:0.0:0.794:0.0	.	1428	Q9Y6D5	BIG2_HUMAN	I	1428	ENSP00000360985:V1428I	ENSP00000360985:V1428I	V	+	1	0	ARFGEF2	47066326	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.353000	0.66034	2.587000	0.87381	0.591000	0.81541	GTA		0.353	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47632919	G	A	47632919	3	1	459	1	0	0	0	0	1	0	0	0	853	1377	48	2	4404	2	ARFGEF2	20	47632919	Missense_Mutation	SNP	G	TCGA-BQ-5883-01A-11D-1589-08		47632919	15392601	22	25065											
MMP11	4320	hgsc.bcm.edu	37	22	24123480	24123480	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr22:24123480G>A	ENST00000215743.3	+	6	1011	c.959G>A	c.(958-960)cGt>cAt	p.R320H		NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	320					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	TGGCGCCTCCGTGGGGGCCAG	0.672																																																0													41	43	43					22																	24123480		2203	4300	6503	SO:0001583	missense	4320				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.959G>A	chr22.hg19:g.24123480G>A	ENSP00000215743:p.Arg320His		Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	hg19	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546617	0.86022	.	.	ENSG00000099953	ENST00000215743	T	0.02421	4.3	4.73	4.73	0.59995	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.41124	1.26	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.18840	-1.0324	10	0.38643	T	0.18	.	12.7499	0.57302	0.0822:0.0:0.9178:0.0	.	320	P24347	MMP11_HUMAN	H	320	ENSP00000215743:R320H	ENSP00000215743:R320H	R	+	2	0	MMP11	22453480	0.998000	0.40836	0.968000	0.41197	0.986000	0.74619	8.987000	0.93497	2.649000	0.89929	0.650000	0.86243	CGT		0.672	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		A	24123480	G	A	24123480	3	1	459	1	0	0	0	0	1	0	0	0	9652	1145	40	1	981	1	MMP11	22	24123480	Missense_Mutation	SNP	G	TCGA-BQ-5883-01A-11D-1589-08		24123480	27181086	23	25066											
SRRM1	10250	hgsc.bcm.edu	37	1	24979017	24979017	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr1:24979017A>T	ENST00000323848.9	+	7	1133	c.818A>T	c.(817-819)aAg>aTg	p.K273M	SRRM1_ENST00000374389.4_Missense_Mutation_p.K273M|SRRM1_ENST00000447431.2_Missense_Mutation_p.K273M|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.K142M	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	273	Arg-rich.|Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAGAAGGAGAAGACCCGACCA	0.502																																					Ovarian(68;897 1494 3282 17478)											0													34	36	36					1																	24979017		2203	4300	6503	SO:0001583	missense	10250			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.818A>T	chr1.hg19:g.24979017A>T	ENSP00000326261:p.Lys273Met		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	hg19	CCDS255.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.093181	0.56075	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.52754	0.76;0.76;0.76;0.65	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000003	T	0.46347	0.1388	N	0.19112	0.55	0.45791	D	0.998673	D;D	0.58620	0.983;0.971	P;P	0.55824	0.785;0.615	T	0.50233	-0.8852	10	0.66056	D	0.02	-2.6317	10.596	0.45338	0.9281:0.0:0.0719:0.0	.	273;273	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	M	273;273;273;142	ENSP00000326261:K273M;ENSP00000391430:K273M;ENSP00000363510:K273M;ENSP00000441776:K142M	ENSP00000326261:K273M	K	+	2	0	SRRM1	24851604	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	3.872000	0.56085	2.320000	0.78422	0.528000	0.53228	AAG		0.502	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		T	24979017	A	T	24979017	3	4	460	1	0	0	0	0	1	0	0	0	15173	72	3	5	844	5	SRRM1	1	24979017	Missense_Mutation	SNP	A	TCGA-BQ-5884-01A-11D-1589-08		24979017	224271604	1	25067											
PEF1	553115	hgsc.bcm.edu	37	1	32100869	32100869	+	Silent	SNP	T	T	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr1:32100869T>C	ENST00000373703.4	-	2	301	c.279A>G	c.(277-279)ccA>ccG	p.P93P	PEF1_ENST00000440872.2_Silent_p.P93P|PEF1_ENST00000492061.1_5'UTR	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	93	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		AACTTGGAGGTGGCTGACCAT	0.587																																																0													49	51	50					1																	32100869		2203	4300	6503	SO:0001819	synonymous_variant	553115				CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"EF-hand domain containing"	30009	protein-coding gene	gene with protein product	"peflin"	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.279A>G	chr1.hg19:g.32100869T>C				Silent	SNP	ENST00000373703.4	hg19	CCDS345.1																																																																																				0.587	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011046.1	NM_012392		C	32100869	T	C	32100869	2	2	460	1	0	0	0	0	0	0	0	1	11720	1683	59	3		3	PEF1	1	32100869	Silent	SNP	T	TCGA-BQ-5884-01A-11D-1589-08	7121852	32100869	217149752	2	25068											
SIPA1L2	57568	hgsc.bcm.edu	37	1	232650793	232650793	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr1:232650793A>C	ENST00000366630.1	-	2	651	c.293T>G	c.(292-294)cTg>cGg	p.L98R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L98R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	98					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTTTCCCACAGTGCCTTGCA	0.517																																																0													156	154	155					1																	232650793		2020	4187	6207	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.293T>G	chr1.hg19:g.232650793A>C	ENSP00000355589:p.Leu98Arg		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	hg19	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	A	0.689	-0.795281	0.02862	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.78816	-1.21;-1.21	5.19	4.02	0.46733	.	0.630597	0.14001	N	0.348152	T	0.50171	0.1600	N	0.08118	0	0.09310	N	1	P	0.39216	0.664	B	0.32289	0.143	T	0.35325	-0.9793	10	0.14252	T	0.57	-9.9849	5.5611	0.17144	0.6384:0.0:0.3616:0.0	.	98	Q9P2F8	SI1L2_HUMAN	R	98	ENSP00000355589:L98R;ENSP00000262861:L98R	ENSP00000262861:L98R	L	-	2	0	SIPA1L2	230717416	0.005000	0.15991	0.062000	0.19696	0.262000	0.26303	1.251000	0.32862	0.942000	0.37525	0.528000	0.53228	CTG		0.517	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		C	232650793	A	C	232650793	3	2	460	1	0	0	0	0	1	0	0	0	14336	188	7	5	4959	5	SIPA1L2	1	232650793	Missense_Mutation	SNP	A	TCGA-BQ-5884-01A-11D-1589-08	200549924	232650793	16599828	3	25069											
SOS1	6654	hgsc.bcm.edu	37	2	39285904	39285904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr2:39285904C>T	ENST00000426016.1	-	4	341	c.255G>A	c.(253-255)tgG>tgA	p.W85*	SOS1_ENST00000395038.2_Nonsense_Mutation_p.W85*|SOS1_ENST00000428721.2_Nonsense_Mutation_p.W28*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.W85*			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	85					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CAGCTATTGCCCATTTATCAA	0.338									Noonan syndrome																																							0													75	76	76					2																	39285904		2202	4300	6502	SO:0001587	stop_gained	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.255G>A	chr2.hg19:g.39285904C>T	ENSP00000387784:p.Trp85*		A8K2G3|B4DXG2	Nonsense_Mutation	SNP	ENST00000426016.1	hg19	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005675	0.93287	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	.	.	.	X	85;85;85;85;28;28	.	ENSP00000263879:W85X	W	-	3	0	SOS1	39139408	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	2.716000	0.92895	0.655000	0.94253	TGG		0.338	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		T	39285904	C	T	39285904	4	4	460	1	0	0	0	0	0	1	0	0	14942	624	22	2	3830	2	SOS1	2	39285904	Nonsense_Mutation	SNP	C	TCGA-BQ-5884-01A-11D-1589-08		39285904	203913469	4	25070											
TANC1	85461	hgsc.bcm.edu	37	2	160086335	160086335	+	Silent	SNP	C	C	A			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr2:160086335C>A	ENST00000263635.6	+	27	4635	c.4398C>A	c.(4396-4398)ccC>ccA	p.P1466P	TANC1_ENST00000454300.1_Silent_p.P1360P	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1466					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAACTTCTCCCCAGGAAGAAT	0.517																																																0													94	104	101					2																	160086335		1964	4133	6097	SO:0001819	synonymous_variant	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4398C>A	chr2.hg19:g.160086335C>A			C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	hg19	CCDS42766.1																																																																																				0.517	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			A	160086335	C	A	160086335	2	1	460	1	0	0	0	0	0	0	0	1	15549	610	22	4		4	TANC1	2	160086335	Silent	SNP	C	TCGA-BQ-5884-01A-11D-1589-08	120800431	160086335	83113038	5	25071											
IRS1	3667	hgsc.bcm.edu	37	2	227662872	227662872	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr2:227662872C>T	ENST00000305123.5	-	1	1603	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	195	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTCAGCTTCACGAAGCTGATG	0.567											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													57	55	56					2																	227662872		2203	4300	6503	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.583G>A	chr2.hg19:g.227662872C>T	ENSP00000304895:p.Val195Met	2321		Missense_Mutation	SNP	ENST00000305123.5	hg19	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366266	0.82463	.	.	ENSG00000169047	ENST00000305123	T	0.74526	-0.85	5.79	5.79	0.91817	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.000000	0.64402	D	0.000017	D	0.87661	0.6233	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87579	0.2483	10	0.56958	D	0.05	-29.8384	20.0212	0.97504	0.0:1.0:0.0:0.0	.	195	P35568	IRS1_HUMAN	M	195	ENSP00000304895:V195M	ENSP00000304895:V195M	V	-	1	0	IRS1	227371116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.735000	0.93741	0.561000	0.74099	GTG		0.567	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		T	227662872	C	T	227662872	3	4	460	1	0	0	0	0	1	0	0	0	7842	536	19	1	3149	1	IRS1	2	227662872	Missense_Mutation	SNP	C	TCGA-BQ-5884-01A-11D-1589-08	67576537	227662872	15536501	6	25072											
SFMBT1	51460	hgsc.bcm.edu	37	3	52939193	52939193	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr3:52939193C>A	ENST00000394752.3	-	21	2942	c.2560G>T	c.(2560-2562)Gag>Tag	p.E854*	SFMBT1_ENST00000358080.2_Nonsense_Mutation_p.E854*|SFMBT1_ENST00000394750.1_Nonsense_Mutation_p.E854*|SFMBT1_ENST00000296295.6_Nonsense_Mutation_p.E811*	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	854	SAM.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTGATCCTCTCTATGTGATGG	0.458																																																0													122	110	114					3																	52939193		2203	4300	6503	SO:0001587	stop_gained	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2560G>T	chr3.hg19:g.52939193C>A	ENSP00000378235:p.Glu854*		Q402F7|Q96C73|Q9Y4Q9	Nonsense_Mutation	SNP	ENST00000394752.3	hg19	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	44	10.576888	0.99431	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	854;854;811;854	.	ENSP00000296295:E811X	E	-	1	0	SFMBT1	52914233	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAG		0.458	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		A	52939193	C	A	52939193	4	1	460	1	0	0	0	0	0	1	0	0	14163	922	32	4	44	4	SFMBT1	3	52939193	Nonsense_Mutation	SNP	C	TCGA-BQ-5884-01A-11D-1589-08		52939193	145083237	7	25073											
CPNE4	131034	hgsc.bcm.edu	37	3	131254172	131254172	+	Splice_Site	SNP	G	G	A			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr3:131254172G>A	ENST00000512055.1	-	20	3667	c.1541C>T	c.(1540-1542)gCa>gTa	p.A514V	CPNE4_ENST00000502818.1_Splice_Site_p.A532V|CPNE4_ENST00000511604.1_Splice_Site_p.A514V|CPNE4_ENST00000429747.1_Splice_Site_p.A514V|CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000512332.1_Splice_Site_p.A532V			Q96A23	CPNE4_HUMAN	copine IV	514						extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGCTGGAGATGCCTGCAGGGA	0.453																																																0													97	91	93					3																	131254172		2203	4300	6503	SO:0001630	splice_region_variant	131034			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1540-1C>T	chr3.hg19:g.131254172G>A			D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	hg19	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766296	0.69878	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70996	0.3288	M	0.76838	2.35	0.80722	D	1	P;B	0.44627	0.839;0.361	P;B	0.56563	0.801;0.134	T	0.72050	-0.4407	10	0.48119	T	0.1	-15.9346	18.8677	0.92300	0.0:0.0:1.0:0.0	.	532;514	Q96A23-2;Q96A23	.;CPNE4_HUMAN	V	514;514;532;514;532	ENSP00000421705:A514V;ENSP00000411904:A514V;ENSP00000424853:A532V;ENSP00000423811:A514V;ENSP00000421646:A532V	ENSP00000411904:A514V	A	-	2	0	CPNE4	132736862	1.000000	0.71417	0.998000	0.56505	0.601000	0.36947	9.476000	0.97823	2.460000	0.83146	0.557000	0.71058	GCA		0.453	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808	Missense_Mutation	A	131254172	G	A	131254172	5	1	460	1	0	0	0	0	0	0	1	0	3816	1333	46	2	136	2	CPNE4	3	131254172	Splice_Site	SNP	G	TCGA-BQ-5884-01A-11D-1589-08	78314979	131254172	66768258	8	25074											
TIFA	92610	hgsc.bcm.edu	37	4	113199250	113199250	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr4:113199250T>G	ENST00000361717.3	-	2	604	c.323A>C	c.(322-324)aAa>aCa	p.K108T	TIFA_ENST00000500655.2_Missense_Mutation_p.K108T	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	108					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		CAGGTCCATTTTATTTAGGTA	0.388																																																0													45	42	43					4																	113199250		2203	4300	6503	SO:0001583	missense	92610			BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"TRAF2 binding protein", "TRAF6 binding protein"	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.323A>C	chr4.hg19:g.113199250T>G	ENSP00000354911:p.Lys108Thr			Missense_Mutation	SNP	ENST00000361717.3	hg19	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382639	0.82792	.	.	ENSG00000145365	ENST00000361717;ENST00000500655	D;D	0.86694	-2.16;-2.16	5.79	5.79	0.91817	Forkhead-associated (FHA) domain (2);	0.092657	0.64402	D	0.000001	D	0.92916	0.7746	M	0.71581	2.175	0.50813	D	0.999896	D	0.89917	1.0	D	0.91635	0.999	D	0.93532	0.6870	10	0.72032	D	0.01	-34.6044	16.1303	0.81428	0.0:0.0:0.0:1.0	.	108	Q96CG3	TIFA_HUMAN	T	108	ENSP00000354911:K108T;ENSP00000424231:K108T	ENSP00000354911:K108T	K	-	2	0	TIFA	113418699	1.000000	0.71417	0.077000	0.20336	0.992000	0.81027	3.462000	0.53042	2.218000	0.71995	0.533000	0.62120	AAA		0.388	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		G	113199250	T	G	113199250	3	3	460	1	0	0	0	0	1	0	0	0	15899	1841	64	5	235	5	TIFA	4	113199250	Missense_Mutation	SNP	T	TCGA-BQ-5884-01A-11D-1589-08		113199250	77955026	9	25075											
METTL14	57721	hgsc.bcm.edu	37	4	119631350	119631350	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr4:119631350T>A	ENST00000388822.5	+	11	1431	c.1264T>A	c.(1264-1266)Tct>Act	p.S422T	METTL14_ENST00000506780.1_Missense_Mutation_p.S384T			Q9HCE5	MET14_HUMAN	methyltransferase like 14	422	Gly-rich.				mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AGGTGGAACTTCTGCTGGCCG	0.527																																																0													56	58	58					4																	119631350		2203	4300	6503	SO:0001583	missense	57721			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.1264T>A	chr4.hg19:g.119631350T>A	ENSP00000373474:p.Ser422Thr		A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	hg19	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.469312	0.43839	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.62	4.42	0.53409	.	0.215770	0.49305	D	0.000149	T	0.30448	0.0765	N	0.14661	0.345	0.38962	D	0.958572	B;B	0.29037	0.231;0.139	B;B	0.19946	0.027;0.027	T	0.11916	-1.0568	9	0.08381	T	0.77	-2.7465	12.8488	0.57846	0.0:0.0:0.1363:0.8637	.	384;422	D6RBL4;Q9HCE5	.;MTL14_HUMAN	T	422;384	.	ENSP00000373474:S422T	S	+	1	0	METTL14	119850798	1.000000	0.71417	0.961000	0.40146	0.958000	0.62258	4.909000	0.63314	0.937000	0.37394	0.528000	0.53228	TCT		0.527	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		A	119631350	T	A	119631350	3	1	460	1	0	0	0	0	1	0	0	0	9500	1783	62	5	1306	5	METTL14	4	119631350	Missense_Mutation	SNP	T	TCGA-BQ-5884-01A-11D-1589-08	6432100	119631350	71522926	10	25076											
KIAA1109	84162	hgsc.bcm.edu	37	4	123161284	123161284	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr4:123161284G>C	ENST00000264501.4	+	29	4820	c.4447G>C	c.(4447-4449)Gaa>Caa	p.E1483Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E1483Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E1483Q			Q2LD37	K1109_HUMAN	KIAA1109	1483					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATATATTGTAGAAGGTGAGAA	0.398																																																0													118	113	114					4																	123161284		1871	4109	5980	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4447G>C	chr4.hg19:g.123161284G>C	ENSP00000264501:p.Glu1483Gln		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.16|17.16	3.318796|3.318796	0.60524|0.60524	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.24908|.	2.42;2.42;1.83|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.44285|.	U|.	0.000466|.	T|.	0.57125|.	0.2032|.	N|N	0.24115|0.24115	0.695|0.695	0.49798|0.49798	D|D	0.999822|0.999822	B;B|.	0.32245|.	0.361;0.247|.	B;B|.	0.42343|.	0.384;0.214|.	T|.	0.49184|.	-0.8966|.	10|.	0.66056|.	D|.	0.02|.	.|.	20.2885|20.2885	0.98538|0.98538	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1482;1483|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	Q|Y	1483|55	ENSP00000264501:E1483Q;ENSP00000373390:E1483Q;ENSP00000389925:E1483Q|.	ENSP00000264501:E1483Q|.	E|X	+|+	1|3	0|2	KIAA1109|KIAA1109	123380734|123380734	1.000000|1.000000	0.71417|0.71417	0.874000|0.874000	0.34290|0.34290	0.951000|0.951000	0.60555|0.60555	8.632000|8.632000	0.90995|0.90995	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	GAA|TAG		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123161284	G	C	123161284	3	2	460	1	0	0	0	0	1	0	0	0	8210	943	33	4	4553	4	KIAA1109	4	123161284	Missense_Mutation	SNP	G	TCGA-BQ-5884-01A-11D-1589-08	3529934	123161284	67992992	11	25077											
ARHGAP26	23092	hgsc.bcm.edu	37	5	142283206	142283206	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr5:142283206G>C	ENST00000274498.4	+	8	1182	c.804G>C	c.(802-804)atG>atC	p.M268I	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.M268I	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	268	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTACACCATGGAGGGATACC	0.473																																																0													97	84	88					5																	142283206		2203	4300	6503	SO:0001583	missense	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.804G>C	chr5.hg19:g.142283206G>C	ENSP00000274498:p.Met268Ile		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	hg19	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018359	0.35606	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	T;T	0.04317	3.65;3.65	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.09379	0.0231	L	0.38953	1.18	0.80722	D	1	P;P	0.37548	0.481;0.599	B;P	0.46076	0.186;0.503	T	0.39231	-0.9624	10	0.25751	T	0.34	.	19.3843	0.94550	0.0:0.0:1.0:0.0	.	268;268	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	I	268	ENSP00000274498:M268I;ENSP00000367243:M268I	ENSP00000274498:M268I	M	+	3	0	ARHGAP26	142263390	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.162000	0.71874	2.574000	0.86865	0.563000	0.77884	ATG		0.473	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		C	142283206	G	C	142283206	3	2	460	1	0	0	0	0	1	0	0	0	875	1348	47	4	834	4	ARHGAP26	5	142283206	Missense_Mutation	SNP	G	TCGA-BQ-5884-01A-11D-1589-08		142283206	38632054	12	25078											
GABRB2	2561	hgsc.bcm.edu	37	5	160753381	160753381	+	Silent	SNP	C	C	G			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr5:160753381C>G	ENST00000393959.1	-	9	1184	c.1185G>C	c.(1183-1185)ctG>ctC	p.L395L	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000274547.2_Silent_p.L395L|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000520240.1_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	395					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.L395L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TAACCGTATACAGAGAGAAAT	0.388																																																1	Substitution - coding silent(1)	endometrium(1)											110	107	108					5																	160753381		2203	4299	6502	SO:0001819	synonymous_variant	2561				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1185G>C	chr5.hg19:g.160753381C>G			A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	hg19	CCDS4355.1																																																																																				0.388	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			G	160753381	C	G	160753381	2	3	460	1	0	0	0	0	0	0	0	1	6169	465	17	4		4	GABRB2	5	160753381	Silent	SNP	C	TCGA-BQ-5884-01A-11D-1589-08	18470175	160753381	20161879	13	25079											
DOCK2	1794	hgsc.bcm.edu	37	5	169477372	169477372	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr5:169477372G>C	ENST00000256935.8	+	41	4264	c.4184G>C	c.(4183-4185)gGa>gCa	p.G1395A	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.G456A|DOCK2_ENST00000520908.1_Missense_Mutation_p.G887A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1395	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGCCCCGGGAGATGATGTG	0.562																																																0													119	111	114					5																	169477372		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4184G>C	chr5.hg19:g.169477372G>C	ENSP00000256935:p.Gly1395Ala		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658712	0.47467	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08896	3.7;3.33;3.04	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	M	0.63428	1.95	0.58432	D	0.999999	D;D	0.71674	0.998;0.994	D;P	0.72075	0.976;0.839	T	0.00320	-1.1820	10	0.30854	T	0.27	.	19.427	0.94746	0.0:0.0:1.0:0.0	.	887;1395	E7ERW7;Q92608	.;DOCK2_HUMAN	A	1395;887;456	ENSP00000256935:G1395A;ENSP00000429283:G887A;ENSP00000438827:G456A	ENSP00000256935:G1395A	G	+	2	0	DOCK2	169409950	1.000000	0.71417	0.332000	0.25469	0.198000	0.23893	7.884000	0.87274	2.603000	0.88011	0.655000	0.94253	GGA		0.562	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		C	169477372	G	C	169477372	3	2	460	1	0	0	0	0	1	0	0	0	4689	1174	41	4	4346	4	DOCK2	5	169477372	Missense_Mutation	SNP	G	TCGA-BQ-5884-01A-11D-1589-08	8723991	169477372	11437888	14	25080											
F12	2161	hgsc.bcm.edu	37	5	176831305	176831305	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr5:176831305G>A	ENST00000253496.3	-	9	958	c.910C>T	c.(910-912)Ccg>Tcg	p.P304S	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	304	Pro-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	ACCGGGGTCGGAGGCGCCGCC	0.701									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													16	21	19					5																	176831305		2200	4295	6495	SO:0001583	missense	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.910C>T	chr5.hg19:g.176831305G>A	ENSP00000253496:p.Pro304Ser	1934	P78339	Missense_Mutation	SNP	ENST00000253496.3	hg19	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068656	0.36470	.	.	ENSG00000131187	ENST00000253496	T	0.62364	0.03	3.94	1.0	0.19881	Kringle-like fold (1);	0.463200	0.16155	N	0.227071	T	0.32912	0.0845	N	0.14661	0.345	0.19300	N	0.999975	B	0.34103	0.437	B	0.27500	0.08	T	0.22103	-1.0226	10	0.09084	T	0.74	.	6.3798	0.21527	0.0:0.1784:0.4636:0.358	.	304	P00748	FA12_HUMAN	S	304	ENSP00000253496:P304S	ENSP00000253496:P304S	P	-	1	0	F12	176763911	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.786000	0.04623	0.206000	0.20587	0.561000	0.74099	CCG		0.701	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			A	176831305	G	A	176831305	3	1	460	1	0	0	0	0	1	0	0	0	5341	1174	41	2	961	2	F12	5	176831305	Missense_Mutation	SNP	G	TCGA-BQ-5884-01A-11D-1589-08	7353933	176831305	4083955	15	25081											
BRD2	6046	hgsc.bcm.edu	37	6	32945545	32945545	+	Missense_Mutation	SNP	G	G	T	rs55650066		TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr6:32945545G>T	ENST00000374825.4	+	9	3042	c.1341G>T	c.(1339-1341)gaG>gaT	p.E447D	BRD2_ENST00000395287.1_Missense_Mutation_p.E447D|BRD2_ENST00000374831.4_Missense_Mutation_p.E447D|BRD2_ENST00000443797.2_Missense_Mutation_p.E327D|BRD2_ENST00000395289.2_Missense_Mutation_p.E447D|BRD2_ENST00000449085.2_Missense_Mutation_p.E400D	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	447					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						ATGTATTTGAGTTCCGTTATG	0.468																																																0													124	138	133					6																	32945545		1510	2709	4219	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1341G>T	chr6.hg19:g.32945545G>T	ENSP00000363958:p.Glu447Asp		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	hg19	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.69|19.69	3.874670|3.874670	0.72180|0.72180	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085|ENST00000449025	T;T;T;T;T;T|.	0.20332|.	2.08;2.08;2.08;2.08;2.08;2.08|.	5.63|5.63	4.76|4.76	0.60689|0.60689	Bromodomain (3);|.	0.000000|.	0.51477|.	D|.	0.000096|.	T|T	0.74176|0.74176	0.3682|0.3682	M|M	0.89968|0.89968	3.075|3.075	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.71674|.	0.998;0.985|.	P;P|.	0.62382|.	0.901;0.842|.	T|T	0.79883|0.79883	-0.1615|-0.1615	10|5	0.44086|.	T|.	0.13|.	-29.6263|-29.6263	12.3553|12.3553	0.55171|0.55171	0.0804:0.0:0.9196:0.0|0.0804:0.0:0.9196:0.0	.|.	447;447|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	D|I	447;447;447;327;447;400|453	ENSP00000363958:E447D;ENSP00000363964:E447D;ENSP00000378704:E447D;ENSP00000413495:E327D;ENSP00000378702:E447D;ENSP00000409145:E400D|.	ENSP00000363958:E447D|.	E|S	+|+	3|2	2|0	BRD2|BRD2	33053523|33053523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.362000|3.362000	0.52314|0.52314	1.619000|1.619000	0.50296|0.50296	0.643000|0.643000	0.83706|0.83706	GAG|AGT		0.468	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			T	32945545	G	T	32945545	3	4	460	1	0	0	0	0	1	0	0	0	1504	1020	36	4	1371	4	BRD2	6	32945545	Missense_Mutation	SNP	G	TCGA-BQ-5884-01A-11D-1589-08		32945545	138169522	16	25082											
ZNF318	24149	hgsc.bcm.edu	37	6	43333130	43333130	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr6:43333130delT	ENST00000361428.2	-	2	525	c.448delA	c.(448-450)atcfs	p.I150fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.I150fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	150					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCAACAGTGATCCTTAAGCTC	0.473																																																0													104	99	101					6																	43333130		2203	4300	6503	SO:0001589	frameshift_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.448delA	chr6.hg19:g.43333130delT	ENSP00000354964:p.Ile150fs		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	hg19	CCDS4895.2																																																																																				0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		-	43333130	T	-	43333130	7	5	460	1	0	1	0	1	0	0	0	0	17841	1435	50	0	6427	0	ZNF318	6	43333130	Frame_Shift_Del	DEL	T	TCGA-BQ-5884-01A-11D-1589-08	10387585	43333130	127781937	17	25083											
EEF1A1	1915	hgsc.bcm.edu	37	6	74229620	74229620	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr6:74229620T>C	ENST00000316292.9	-	1	1121	c.130A>G	c.(130-132)Aag>Gag	p.K44E	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000309268.6_Missense_Mutation_p.K44E|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K44E	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	44	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCAGCCTCCTTCTCAAATTTT	0.423																																																0													127	129	128					6																	74229620		2203	4300	6503	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.130A>G	chr6.hg19:g.74229620T>C	ENSP00000339063:p.Lys44Glu		P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	hg19	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380554	0.42207	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	U	0.000000	T	0.23965	0.0580	L	0.39326	1.205	0.80722	D	1	B;B;B;B;B	0.14012	0.002;0.009;0.009;0.009;0.009	B;B;B;B;B	0.26416	0.013;0.069;0.069;0.069;0.069	T	0.21999	-1.0229	10	0.87932	D	0	.	13.6597	0.62359	0.0:0.0:0.0:1.0	.	44;44;44;44;44	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	E	44	ENSP00000339063:K44E;ENSP00000339053:K44E;ENSP00000330054:K44E;ENSP00000348651:K44E;ENSP00000392366:K44E	ENSP00000339053:K44E	K	-	1	0	EEF1A1	74286341	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.669000	0.83911	1.874000	0.54306	0.454000	0.30748	AAG		0.423	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		C	74229620	T	C	74229620	3	2	460	1	0	0	0	0	1	0	0	0	4925	1792	62	3	1286	3	EEF1A1	6	74229620	Missense_Mutation	SNP	T	TCGA-BQ-5884-01A-11D-1589-08	30896490	74229620	96885447	18	25084											
ZNF292	23036	hgsc.bcm.edu	37	6	87964665	87964665	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr6:87964665T>C	ENST00000369577.3	+	8	1361	c.1318T>C	c.(1318-1320)Tgg>Cgg	p.W440R	ZNF292_ENST00000339907.4_Missense_Mutation_p.W435R	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	440						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAAAACTCAATGGCCCTTTGA	0.378																																																0													75	69	71					6																	87964665		1844	4086	5930	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1318T>C	chr6.hg19:g.87964665T>C	ENSP00000358590:p.Trp440Arg		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	hg19	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241783	0.58995	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.39787	1.06;1.06	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.72894	2.215	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.63435	-0.6638	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	440	O60281	ZN292_HUMAN	R	440;435	ENSP00000358590:W440R;ENSP00000342847:W435R	ENSP00000342847:W435R	W	+	1	0	ZNF292	88021384	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	TGG		0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		C	87964665	T	C	87964665	3	2	460	1	0	0	0	0	1	0	0	0	17831	1464	51	3	1348	3	ZNF292	6	87964665	Missense_Mutation	SNP	T	TCGA-BQ-5884-01A-11D-1589-08	13735045	87964665	83150402	19	25085											
ANKIB1	54467	hgsc.bcm.edu	37	7	92019370	92019370	+	Silent	SNP	T	T	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr7:92019370T>C	ENST00000265742.3	+	15	2368	c.1992T>C	c.(1990-1992)taT>taC	p.Y664Y		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	664							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTGTTCTTATCCATATGGAT	0.333																																																0													107	102	103					7																	92019370		1828	4082	5910	SO:0001819	synonymous_variant	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1992T>C	chr7.hg19:g.92019370T>C			Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	hg19	CCDS47639.1																																																																																				0.333	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			C	92019370	T	C	92019370	2	2	460	1	0	0	0	0	0	0	0	1	630	1442	50	3		3	ANKIB1	7	92019370	Silent	SNP	T	TCGA-BQ-5884-01A-11D-1589-08		92019370	67119293	20	25086											
SLC26A5	375611	hgsc.bcm.edu	37	7	103019735	103019735	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr7:103019735A>C	ENST00000306312.3	-	16	1893	c.1632T>G	c.(1630-1632)atT>atG	p.I544M	SLC26A5_ENST00000393723.1_Missense_Mutation_p.I512M|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.I544M|SLC26A5_ENST00000354356.4_De_novo_Start_InFrame|SLC26A5_ENST00000393730.1_Missense_Mutation_p.I512M|SLC26A5_ENST00000393729.1_Missense_Mutation_p.I507M|SLC26A5_ENST00000432958.2_Missense_Mutation_p.I512M|SLC26A5_ENST00000339444.6_Missense_Mutation_p.I544M	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	544	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTGCATAGTAAATTGGTGCAT	0.318																																																0													112	107	109					7																	103019735		2203	4299	6502	SO:0001583	missense	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1632T>G	chr7.hg19:g.103019735A>C	ENSP00000304783:p.Ile544Met		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	hg19	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052577	0.55218	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54	6.13	4.99	0.66335	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.151455	0.56097	D	0.000021	D	0.96288	0.8789	M	0.82056	2.57	0.80722	D	1	P;D;D	0.67145	0.645;0.996;0.995	P;D;D	0.67382	0.643;0.951;0.918	D	0.95580	0.8645	10	0.49607	T	0.09	.	8.2331	0.31610	0.8582:0.0:0.1418:0.0	.	544;512;544	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	M	544;544;512;512;507;544;512	ENSP00000342396:I544M;ENSP00000304783:I544M;ENSP00000377331:I512M;ENSP00000389733:I512M;ENSP00000377330:I507M;ENSP00000377328:I544M;ENSP00000377324:I512M	ENSP00000304783:I544M	I	-	3	3	SLC26A5	102806971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.023000	0.30065	2.364000	0.80123	0.524000	0.50904	ATT		0.318	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		C	103019735	A	C	103019735	3	2	460	1	0	0	0	0	1	0	0	0	14526	10	1	5	663	5	SLC26A5	7	103019735	Missense_Mutation	SNP	A	TCGA-BQ-5884-01A-11D-1589-08	11000365	103019735	56118928	21	25087											
UBE3C	9690	hgsc.bcm.edu	37	7	157046775	157046775	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr7:157046775A>G	ENST00000348165.5	+	20	3182	c.2822A>G	c.(2821-2823)cAg>cGg	p.Q941R		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	941	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCTTTCCGCCAGGGCCTTGCC	0.567																																																0													56	53	54					7																	157046775		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2822A>G	chr7.hg19:g.157046775A>G	ENSP00000309198:p.Gln941Arg		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	hg19	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268398	0.80469	.	.	ENSG00000009335	ENST00000348165	T	0.56103	0.48	5.31	5.31	0.75309	HECT (4);	0.000000	0.85682	D	0.000000	T	0.45115	0.1326	N	0.20610	0.595	0.80722	D	1	B;P	0.38677	0.437;0.642	P;P	0.48334	0.475;0.574	T	0.30357	-0.9981	10	0.05833	T	0.94	.	15.5565	0.76200	1.0:0.0:0.0:0.0	.	941;794	Q15386;B4DHJ9	UBE3C_HUMAN;.	R	941	ENSP00000309198:Q941R	ENSP00000309198:Q941R	Q	+	2	0	UBE3C	156739536	1.000000	0.71417	0.996000	0.52242	0.769000	0.43574	8.946000	0.92992	2.143000	0.66587	0.533000	0.62120	CAG		0.567	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		G	157046775	A	G	157046775	3	3	460	1	0	0	0	0	1	0	0	0	16886	188	7	3	2900	3	UBE3C	7	157046775	Missense_Mutation	SNP	A	TCGA-BQ-5884-01A-11D-1589-08	54027040	157046775	2091888	22	25088											
PDLIM2	64236	hgsc.bcm.edu	37	8	22452077	22452077	+	IGR	SNP	C	C	T			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr8:22452077C>T	ENST00000397760.4	+	0	1837				AC037459.4_ENST00000430850.2_Intron|PDLIM2_ENST00000265810.4_Missense_Mutation_p.S339L			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		ATGAGATTGTCACTGGAAGCT	0.527																																																0													167	167	167					8																	22452077		2203	4300	6503	SO:0001628	intergenic_variant	64236			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270		chr8.hg19:g.22452077C>T			D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	hg19		.	.	.	.	.	.	.	.	.	.	C	13.63	2.293984	0.40594	.	.	ENSG00000120913	ENST00000265810	T	0.13538	2.58	1.84	0.907	0.19321	.	.	.	.	.	T	0.08582	0.0213	.	.	.	0.09310	N	0.999999	B	0.23185	0.081	B	0.15052	0.012	T	0.31971	-0.9924	8	0.49607	T	0.09	.	3.5437	0.07820	0.0:0.7384:0.0:0.2616	.	339	Q96JY6-3	.	L	339	ENSP00000265810:S339L	ENSP00000265810:S339L	S	+	2	0	PDLIM2	22508022	0.004000	0.15560	0.006000	0.13384	0.019000	0.09904	0.023000	0.13533	0.318000	0.23185	0.491000	0.48974	TCA		0.527	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			T	22452077	C	T	22452077	1	4	460	0	1	0	0	0	0	0	0	0	11682	838	29	2		2	PDLIM2	8	22452077	IGR	SNP	C	TCGA-BQ-5884-01A-11D-1589-08		22452077	123911945	23	25089											
SLC7A13	157724	hgsc.bcm.edu	37	8	87226722	87226722	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr8:87226722T>A	ENST00000297524.3	-	4	1436	c.1333A>T	c.(1333-1335)Aga>Tga	p.R445*	SLC7A13_ENST00000419776.2_3'UTR|CTD-3118D11.3_ENST00000523112.1_RNA	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	445						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.R445*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CAAGCCAATCTTATTTTAAAA	0.348																																																1	Substitution - Nonsense(1)	large_intestine(1)											56	61	60					8																	87226722		2203	4300	6503	SO:0001587	stop_gained	157724			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1333A>T	chr8.hg19:g.87226722T>A	ENSP00000297524:p.Arg445*		Q05C37|Q08AH9|Q96N84	Nonsense_Mutation	SNP	ENST00000297524.3	hg19	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030925	0.35797	.	.	ENSG00000164893	ENST00000297524	.	.	.	4.13	-0.155	0.13395	.	0.844613	0.10208	N	0.702444	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	5.8345	0.18599	0.0:0.1058:0.4904:0.4039	.	.	.	.	X	445	.	ENSP00000297524:R445X	R	-	1	2	SLC7A13	87295838	0.001000	0.12720	0.000000	0.03702	0.068000	0.16541	1.079000	0.30766	0.195000	0.20347	0.533000	0.62120	AGA		0.348	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		A	87226722	T	A	87226722	4	1	460	1	0	0	0	0	0	1	0	0	14701	1617	56	5	83	5	SLC7A13	8	87226722	Nonsense_Mutation	SNP	T	TCGA-BQ-5884-01A-11D-1589-08	64774645	87226722	59137300	24	25090											
ZHX2	22882	hgsc.bcm.edu	37	8	123965936	123965936	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr8:123965936A>C	ENST00000314393.4	+	3	3021	c.2186A>C	c.(2185-2187)cAa>cCa	p.Q729P		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	729					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGGTTCCACAATATTACAAG	0.527																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)											0													96	101	100					8																	123965936		2203	4300	6503	SO:0001583	missense	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2186A>C	chr8.hg19:g.123965936A>C	ENSP00000314709:p.Gln729Pro			Missense_Mutation	SNP	ENST00000314393.4	hg19	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	A	4.171	0.030196	0.08101	.	.	ENSG00000178764	ENST00000314393	T	0.18502	2.21	5.94	0.233	0.15386	.	0.814635	0.11109	N	0.598853	T	0.09202	0.0227	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33085	-0.9882	10	0.36615	T	0.2	-0.5406	4.2111	0.10512	0.4285:0.383:0.0659:0.1227	.	729	Q9Y6X8	ZHX2_HUMAN	P	729	ENSP00000314709:Q729P	ENSP00000314709:Q729P	Q	+	2	0	ZHX2	124035117	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	0.379000	0.20585	0.099000	0.17552	-0.466000	0.05196	CAA		0.527	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		C	123965936	A	C	123965936	3	2	460	1	0	0	0	0	1	0	0	0	17681	130	5	5	2188	5	ZHX2	8	123965936	Missense_Mutation	SNP	A	TCGA-BQ-5884-01A-11D-1589-08	36739214	123965936	22398086	25	25091											
EPC1	80314	hgsc.bcm.edu	37	10	32582651	32582651	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr10:32582651C>A	ENST00000263062.8	-	3	597	c.328G>T	c.(328-330)Gct>Tct	p.A110S	EPC1_ENST00000375110.2_Missense_Mutation_p.A60S|EPC1_ENST00000319778.6_Missense_Mutation_p.A110S	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	110					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GGCTGTTCAGCATCCAAACTA	0.368																																																0													51	46	48					10																	32582651		2203	4300	6503	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.328G>T	chr10.hg19:g.32582651C>A	ENSP00000263062:p.Ala110Ser		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	hg19	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501195	0.26861	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.40476	1.03;1.03;1.03	5.67	4.76	0.60689	Enhancer of polycomb-like, N-terminal (1);	0.091656	0.85682	D	0.000000	T	0.17959	0.0431	N	0.04508	-0.205	0.42849	D	0.994075	B;P;B;B	0.39022	0.073;0.655;0.02;0.073	B;B;B;B	0.30855	0.105;0.121;0.037;0.105	T	0.09509	-1.0671	10	0.10902	T	0.67	-6.3339	14.4806	0.67579	0.0:0.9292:0.0:0.0708	.	110;60;110;110	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	S	60;110;110	ENSP00000364251:A60S;ENSP00000318559:A110S;ENSP00000263062:A110S	ENSP00000263062:A110S	A	-	1	0	EPC1	32622657	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.957000	0.56730	1.389000	0.46526	0.467000	0.42956	GCT		0.368	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			A	32582651	C	A	32582651	3	1	460	1	0	0	0	0	1	0	0	0	5162	710	25	4	2234	4	EPC1	10	32582651	Missense_Mutation	SNP	C	TCGA-BQ-5884-01A-11D-1589-08		32582651	102952096	26	25092											
ZNF33B	7582	hgsc.bcm.edu	37	10	43088537	43088537	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr10:43088537T>G	ENST00000359467.3	-	5	1975	c.1861A>C	c.(1861-1863)Aag>Cag	p.K621Q	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AGTTGTGACTTCTGGCAGAAG	0.363																																					Melanoma(137;1247 1767 16772 25727 43810)											0													96	96	96					10																	43088537		2203	4300	6503	SO:0001583	missense	7582			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1861A>C	chr10.hg19:g.43088537T>G	ENSP00000352444:p.Lys621Gln		Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	hg19	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	9.434	1.086178	0.20390	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.01015	5.44	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35646	N	0.003071	T	0.02807	0.0084	L	0.56124	1.755	0.09310	N	1	D	0.71674	0.998	D	0.68621	0.959	T	0.40021	-0.9585	10	0.38643	T	0.18	.	9.025	0.36224	0.0:0.0:0.0:1.0	.	621	Q06732	ZN33B_HUMAN	Q	621;587	ENSP00000352444:K621Q	ENSP00000352444:K621Q	K	-	1	0	ZNF33B	42408543	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.848000	0.27710	1.446000	0.47643	0.336000	0.21669	AAG		0.363	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		G	43088537	T	G	43088537	3	3	460	1	0	0	0	0	1	0	0	0	17860	1792	62	5	479	5	ZNF33B	10	43088537	Missense_Mutation	SNP	T	TCGA-BQ-5884-01A-11D-1589-08	10505886	43088537	92446210	27	25093											
IFIT5	24138	hgsc.bcm.edu	37	10	91178386	91178387	+	Frame_Shift_Ins	INS	-	-	GCTC			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr10:91178386_91178387insGCTC	ENST00000371795.4	+	2	1643_1644	c.1430_1431insGCTC	c.(1429-1434)gagctcfs	p.-478fs	IFIT5_ENST00000416601.1_Frame_Shift_Ins_p.-430fs	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5						defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						GCTCTCTGTGAGCTCCGACTTT	0.371																																																0																																										SO:0001589	frameshift_variant	24138			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.1431_1434dupGCTC	chr10.hg19:g.91178387_91178390dupGCTC	ENSP00000360860:p.Leu478fs		B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Frame_Shift_Ins	INS	ENST00000371795.4	hg19	CCDS7403.1																																																																																				0.371	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		GCTC	91178387	-	GCTC	91178386	7	5	460	1	0	1	1	0	0	0	0	0	7527	304	11	0	1436	0	IFIT5	10	91178386	Frame_Shift_Ins	INS	-	TCGA-BQ-5884-01A-11D-1589-08	48089849	91178386	44356361	28	25094											
SLC39A5	283375	hgsc.bcm.edu	37	12	56630209	56630209	+	Silent	SNP	C	C	G	rs139155884	byFrequency	TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr12:56630209C>G	ENST00000266980.4	+	7	1268	c.975C>G	c.(973-975)ctC>ctG	p.L325L	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Silent_p.L325L	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	325					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAAGGAATCTCGAAACACGCA	0.557																																																0													134	129	131					12																	56630209		2203	4300	6503	SO:0001819	synonymous_variant	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.975C>G	chr12.hg19:g.56630209C>G			B2R808|Q8N6Y3	Silent	SNP	ENST00000266980.4	hg19	CCDS8912.2																																																																																				0.557	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		G	56630209	C	G	56630209	2	3	460	1	0	0	0	0	0	0	0	1	14627	871	31	4		4	SLC39A5	12	56630209	Silent	SNP	C	TCGA-BQ-5884-01A-11D-1589-08		56630209	77221686	29	25095											
STAT2	6773	hgsc.bcm.edu	37	12	56742947	56742947	+	Splice_Site	SNP	C	C	T			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr12:56742947C>T	ENST00000314128.4	-	16	1463	c.1440G>A	c.(1438-1440)caG>caA	p.Q480Q	STAT2_ENST00000557235.1_Splice_Site_p.Q476Q|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_Intron			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	480					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ACTCCCCTACCTGAAGGTTTG	0.562																																																0													93	93	93					12																	56742947		2203	4300	6503	SO:0001630	splice_region_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1440+1G>A	chr12.hg19:g.56742947C>T			B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	ENST00000314128.4	hg19	CCDS8917.1																																																																																				0.562	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419	Silent	T	56742947	C	T	56742947	5	4	460	1	0	0	0	0	0	0	1	0	15270	695	24	2	1151	2	STAT2	12	56742947	Splice_Site	SNP	C	TCGA-BQ-5884-01A-11D-1589-08	112738	56742947	77108948	30	25096											
DENR	8562	hgsc.bcm.edu	37	12	123253468	123253468	+	Splice_Site	DEL	G	G	-			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr12:123253468delG	ENST00000280557.6	+	7	738	c.552delG	c.(550-552)gag>ga	p.E184fs	DENR_ENST00000455982.2_Intron|Y_RNA_ENST00000384187.1_RNA	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein	184					formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)		translation initiation factor activity (GO:0003743)			kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		AATGGCCAGAGGTGAGTGCAT	0.363																																																0													70	67	68					12																	123253468		1874	4097	5971	SO:0001630	splice_region_variant	8562			AF038554	CCDS45003.1	12q24.31	1999-06-17			ENSG00000139726	ENSG00000139726			2769	protein-coding gene	gene with protein product		604550				9628587	Standard	NM_003677		Approved	DRP, DRP1, SMAP-3	uc001uda.3	O43583	OTTHUMG00000168844	ENST00000280557.6:c.552+1G>-	chr12.hg19:g.123253468delG			Q9H3U6|Q9UKZ0	Frame_Shift_Del	DEL	ENST00000280557.6	hg19	CCDS45003.1																																																																																				0.363	DENR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401336.1	NM_003677	Frame_Shift_Del	-	123253468	G	-	123253468	8	5	460	1	0	1	0	1	0	0	1	0	4440	1014	35	0	574	0	DENR	12	123253468	Splice_Site	DEL	G	TCGA-BQ-5884-01A-11D-1589-08	66510521	123253468	10598427	31	25097											
FREM2	341640	hgsc.bcm.edu	37	13	39265553	39265553	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr13:39265553A>G	ENST00000280481.7	+	1	4288	c.4072A>G	c.(4072-4074)Act>Gct	p.T1358A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1358					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACGAAAACCTACTGGTGCCTT	0.383																																																0													64	65	64					13																	39265553		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4072A>G	chr13.hg19:g.39265553A>G	ENSP00000280481:p.Thr1358Ala		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.720360	0.00700	.	.	ENSG00000150893	ENST00000280481	T	0.40756	1.02	5.81	-0.554	0.11811	.	1.289890	0.04720	N	0.419174	T	0.13927	0.0337	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19063	-1.0317	10	0.08837	T	0.75	.	1.7548	0.02980	0.3096:0.2411:0.3249:0.1243	.	1358	Q5SZK8	FREM2_HUMAN	A	1358	ENSP00000280481:T1358A	ENSP00000280481:T1358A	T	+	1	0	FREM2	38163553	0.000000	0.05858	0.001000	0.08648	0.731000	0.41821	0.004000	0.13106	0.122000	0.18314	0.533000	0.62120	ACT		0.383	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39265553	A	G	39265553	3	3	460	1	0	0	0	0	1	0	0	0	6047	391	14	3	4074	3	FREM2	13	39265553	Missense_Mutation	SNP	A	TCGA-BQ-5884-01A-11D-1589-08		39265553	75904325	32	25098											
MLNR	2862	hgsc.bcm.edu	37	13	49796387	49796387	+	Silent	SNP	C	C	G			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr13:49796387C>G	ENST00000218721.1	+	2	1113	c.1113C>G	c.(1111-1113)ctC>ctG	p.L371L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	371					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACTGCTGCTCGCAAGGAAGT	0.547																																																0													81	81	81					13																	49796387		2203	4300	6503	SO:0001819	synonymous_variant	2862			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1113C>G	chr13.hg19:g.49796387C>G				Silent	SNP	ENST00000218721.1	hg19	CCDS9414.1																																																																																				0.547	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		G	49796387	C	G	49796387	2	3	460	1	0	0	0	0	0	0	0	1	9634	871	31	4		4	MLNR	13	49796387	Silent	SNP	C	TCGA-BQ-5884-01A-11D-1589-08	10530834	49796387	65373491	33	25099											
TSC2	7249	hgsc.bcm.edu	37	16	2122849	2122849	+	Splice_Site	SNP	G	G	A	rs45517218		TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr16:2122849G>A	ENST00000219476.3	+	21	2850		c.e21-1		TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000439673.2_Splice_Site|TSC2_ENST00000350773.4_Splice_Site|TSC2_ENST00000382538.6_Splice_Site|TSC2_ENST00000401874.2_Splice_Site	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTGGTCATCAGCTTTCAGGCC	0.627			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													53	58	56					16																	2122849		2198	4300	6498	SO:0001630	splice_region_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2221-1G>A	chr16.hg19:g.2122849G>A			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Splice_Site	SNP	ENST00000219476.3	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269512	0.40095	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3044	0.94155	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSC2	2062850	1.000000	0.71417	0.996000	0.52242	0.714000	0.41099	7.284000	0.78650	2.551000	0.86045	0.655000	0.94253	.		0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	Intron	A	2122849	G	A	2122849	5	1	460	1	0	0	0	0	0	0	1	0	16611	985	34	2	2298	2	TSC2	16	2122849	Splice_Site	SNP	G	TCGA-BQ-5884-01A-11D-1589-08		2122849	88231904	34	25100											
NLRC3	197358	hgsc.bcm.edu	37	16	3598164	3598164	+	RNA	SNP	T	T	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr16:3598164T>C	ENST00000301749.7	-	0	3147				NLRC3_ENST00000603507.1_RNA|LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTTGAGCTGTAGTGCTTGTC	0.587																																																0													33	35	34					16																	3598164		1962	4132	6094			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		chr16.hg19:g.3598164T>C			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	hg19																																																																																					0.587	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		C	3598164	T	C	3598164	1	2	460	0	1	0	0	0	0	0	0	0	10470	1625	57	3		3	NLRC3	16	3598164	RNA	SNP	T	TCGA-BQ-5884-01A-11D-1589-08	1475315	3598164	86756589	35	25101											
NOS2	4843	hgsc.bcm.edu	37	17	26107895	26107895	+	Missense_Mutation	SNP	C	C	A	rs200678947		TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr17:26107895C>A	ENST00000313735.6	-	9	1135	c.902G>T	c.(901-903)cGc>cTc	p.R301L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	301					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CACATCGAAGCGGCCGTACTT	0.627																																																0													58	54	56					17																	26107895		2203	4300	6503	SO:0001583	missense	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.902G>T	chr17.hg19:g.26107895C>A	ENSP00000327251:p.Arg301Leu		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	hg19	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545019	0.86022	.	.	ENSG00000007171	ENST00000313735;ENST00000302153	T	0.23147	1.92	5.33	5.33	0.75918	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	M	0.70903	2.155	0.80722	D	1	P;B	0.35628	0.513;0.012	B;B	0.30251	0.113;0.015	T	0.17745	-1.0359	10	0.56958	D	0.05	.	18.0142	0.89233	0.0:1.0:0.0:0.0	.	301;301	F8WEM3;P35228	.;NOS2_HUMAN	L	301	ENSP00000327251:R301L	ENSP00000305638:R301L	R	-	2	0	NOS2	23132022	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	4.831000	0.62752	2.465000	0.83290	0.655000	0.94253	CGC		0.627	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		A	26107895	C	A	26107895	3	1	460	1	0	0	0	0	1	0	0	0	10545	768	27	4	2635	4	NOS2	17	26107895	Missense_Mutation	SNP	C	TCGA-BQ-5884-01A-11D-1589-08		26107895	55087315	36	25102											
SLC38A10	124565	hgsc.bcm.edu	37	17	79220316	79220316	+	Silent	SNP	C	C	T			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr17:79220316C>T	ENST00000374759.3	-	16	2783	c.2400G>A	c.(2398-2400)caG>caA	p.Q800Q		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	800					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGGGAGCGCTGGTTAAGGT	0.682																																																0													18	20	19					17																	79220316		1869	4067	5936	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2400G>A	chr17.hg19:g.79220316C>T			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	hg19	CCDS42397.1																																																																																				0.682	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		T	79220316	C	T	79220316	2	4	460	1	0	0	0	0	0	0	0	1	14608	796	28	2		2	SLC38A10	17	79220316	Silent	SNP	C	TCGA-BQ-5884-01A-11D-1589-08	53112421	79220316	1974894	37	25103											
ZNF532	55205	hgsc.bcm.edu	37	18	56587630	56587630	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr18:56587630C>T	ENST00000336078.4	+	4	2887	c.2111C>T	c.(2110-2112)aCt>aTt	p.T704I	ZNF532_ENST00000591230.1_Missense_Mutation_p.T704I|ZNF532_ENST00000589288.1_Missense_Mutation_p.T704I|ZNF532_ENST00000591083.1_Missense_Mutation_p.T704I|ZNF532_ENST00000591808.1_Missense_Mutation_p.T704I	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	704					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TCAACTTCCACTCTTCAGAGC	0.473																																																0													63	67	65					18																	56587630		2203	4300	6503	SO:0001583	missense	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2111C>T	chr18.hg19:g.56587630C>T	ENSP00000338217:p.Thr704Ile		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	hg19	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	c	2.772	-0.255447	0.05829	.	.	ENSG00000074657	ENST00000336078	T	0.32515	1.45	5.43	4.55	0.56014	.	0.394325	0.27526	N	0.018974	T	0.17023	0.0409	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13845	-1.0494	10	0.35671	T	0.21	-5.4027	8.1333	0.31039	0.0:0.7358:0.1536:0.1107	.	704	Q9HCE3	ZN532_HUMAN	I	704	ENSP00000338217:T704I	ENSP00000338217:T704I	T	+	2	0	ZNF532	54738610	0.026000	0.19158	0.014000	0.15608	0.567000	0.35839	2.740000	0.47418	1.298000	0.44778	0.544000	0.68410	ACT		0.473	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		T	56587630	C	T	56587630	3	4	460	1	0	0	0	0	1	0	0	0	17977	565	20	2	2113	2	ZNF532	18	56587630	Missense_Mutation	SNP	C	TCGA-BQ-5884-01A-11D-1589-08		56587630	21489618	38	25104											
ZNF57	126295	hgsc.bcm.edu	37	19	2916127	2916127	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr19:2916127A>C	ENST00000306908.5	+	3	330	c.182A>C	c.(181-183)tAc>tCc	p.Y61S	ZNF57_ENST00000523428.1_Missense_Mutation_p.Y29S|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGATATGTACGGGCAAGAA	0.363																																					NSCLC(150;910 1964 4303 10464 26498)											0													125	111	116					19																	2916127		2203	4300	6503	SO:0001583	missense	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.182A>C	chr19.hg19:g.2916127A>C	ENSP00000303696:p.Tyr61Ser		Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	hg19	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	A	6.519	0.463953	0.12402	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000522294;ENST00000523428	T;T;T	0.05258	3.58;6.04;3.47	1.38	1.38	0.22167	Krueppel-associated box (2);	.	.	.	.	T	0.02610	0.0079	N	0.12569	0.235	0.09310	N	1	B	0.33494	0.414	B	0.18263	0.021	T	0.45041	-0.9288	9	0.20519	T	0.43	.	4.9023	0.13781	1.0:0.0:0.0:0.0	.	61	Q68EA5	ZNF57_HUMAN	S	61;61;29;29	ENSP00000303696:Y61S;ENSP00000430905:Y29S;ENSP00000430223:Y29S	ENSP00000303696:Y61S	Y	+	2	0	ZNF57	2867127	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-1.333000	0.02667	0.877000	0.35895	0.486000	0.48141	TAC		0.363	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		C	2916127	A	C	2916127	3	2	460	1	0	0	0	0	1	0	0	0	18006	391	14	5	192	5	ZNF57	19	2916127	Missense_Mutation	SNP	A	TCGA-BQ-5884-01A-11D-1589-08		2916127	56212856	39	25105											
HNRNPUL1	11100	hgsc.bcm.edu	37	19	41800265	41800265	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr19:41800265C>G	ENST00000392006.3	+	9	1462	c.1289C>G	c.(1288-1290)cCt>cGt	p.P430R	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P330R|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.P430R|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P330R|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P316R|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P330R|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P341R	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	430	Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGGGCCTGCCTGCTGCTGGC	0.537																																																0													166	120	135					19																	41800265		2203	4300	6503	SO:0001583	missense	11100			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1289C>G	chr19.hg19:g.41800265C>G	ENSP00000375863:p.Pro430Arg		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	hg19	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717475	0.89205	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.46	5.46	0.80206	.	0.105015	0.64402	D	0.000003	T	0.78685	0.4322	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.973;1.0;1.0	D;D;D;P;D;D	0.97110	0.999;0.999;0.999;0.816;1.0;0.999	T	0.82489	-0.0432	10	0.87932	D	0	-7.8178	18.2528	0.90009	0.0:1.0:0.0:0.0	.	341;330;430;316;430;330	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	R	330;430;316;341	ENSP00000340857:P330R;ENSP00000375863:P430R;ENSP00000367460:P316R;ENSP00000263367:P341R	ENSP00000263367:P341R	P	+	2	0	HNRNPUL1	46492105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.557000	0.82243	2.840000	0.97914	0.655000	0.94253	CCT		0.537	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		G	41800265	C	G	41800265	3	3	460	1	0	0	0	0	1	0	0	0	7276	681	24	4	1323	4	HNRNPUL1	19	41800265	Missense_Mutation	SNP	C	TCGA-BQ-5884-01A-11D-1589-08	38884138	41800265	17328718	40	25106											
ZFP64	55734	hgsc.bcm.edu	37	20	50769885	50769885	+	Silent	SNP	C	C	T			TCGA-BQ-5884-01A-11D-1589-08	TCGA-BQ-5884-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f2fe918-229b-4e08-a866-96bb1c6fc7d9	9f67477d-e1e3-4aa5-9789-db50e9359ddd	g.chr20:50769885C>T	ENST00000216923.4	-	6	1195	c.846G>A	c.(844-846)tcG>tcA	p.S282S	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.S280S|ZFP64_ENST00000346617.4_Silent_p.S228S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCTTCTCCCCCGAGTGCACCC	0.552																																																0													80	72	75					20																	50769885		2203	4300	6503	SO:0001819	synonymous_variant	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.846G>A	chr20.hg19:g.50769885C>T			Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	hg19	CCDS13440.1																																																																																				0.552	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		T	50769885	C	T	50769885	2	4	460	1	0	0	0	0	0	0	0	1	17657	639	23	1		1	ZFP64	20	50769885	Silent	SNP	C	TCGA-BQ-5884-01A-11D-1589-08		50769885	12255635	41	25107											
FMO4	2329	hgsc.bcm.edu	37	1	171303821	171303822	+	Missense_Mutation	DNP	AT	AT	GC			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A|T	A|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:171303821_171303822AT>GC	ENST00000367749.3	+	8	1429_1430	c.1099_1100AT>GC	c.(1099-1101)ATc>GCc	p.I367A		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	367					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GACATTAGCCATCATCGGCCTT	0.411																																					Pancreas(24;816 862 7754 7993 32832)											0																																										SO:0001583	missense	2329			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	Exception_encountered	chr1.hg19:g.171303821_171303822delinsGC	ENSP00000356723:p.Ile367Ala		Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	hg19	CCDS1295.1																																																																																				0.411	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		GC	171303822	AT	GC	171303821	3	3	461	1	0	0	0	0	1	0	0	0	5959	217	8	3	1121	3	FMO4	1	171303821	Missense_Mutation	DNP	AT	TCGA-BQ-5885-01A-11D-1589-08		171303821	77946800	1	25108											
HEATR1	55127	hgsc.bcm.edu	37	1	236738095	236738095	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:236738095C>T	ENST00000366582.3	-	23	3307	c.3193G>A	c.(3193-3195)Gga>Aga	p.G1065R	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1065					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTATACTTTCCCAGAGTGAGA	0.423																																																0													72	72	72					1																	236738095		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3193G>A	chr1.hg19:g.236738095C>T	ENSP00000355541:p.Gly1065Arg		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	hg19	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659073	0.67586	.	.	ENSG00000119285	ENST00000366582	T	0.66099	-0.19	5.73	5.73	0.89815	Armadillo-type fold (2);	0.167388	0.52532	D	0.000065	T	0.65059	0.2655	M	0.62723	1.935	0.80722	D	1	P	0.42735	0.788	B	0.42495	0.389	T	0.62334	-0.6876	10	0.28530	T	0.3	.	19.904	0.97001	0.0:1.0:0.0:0.0	.	1065	Q9H583	HEAT1_HUMAN	R	1065	ENSP00000355541:G1065R	ENSP00000355541:G1065R	G	-	1	0	HEATR1	234804718	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.615000	0.46368	2.689000	0.91719	0.655000	0.94253	GGA		0.423	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		T	236738095	C	T	236738095	3	4	461	1	0	0	0	0	1	0	0	0	7029	632	22	2	3333	2	HEATR1	1	236738095	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	65434274	236738095	12512526	2	25109											
HEATR1	55127	hgsc.bcm.edu	37	1	236749736	236749736	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:236749736T>C	ENST00000366582.3	-	15	1846	c.1732A>G	c.(1732-1734)Ata>Gta	p.I578V	HEATR1_ENST00000366581.2_Missense_Mutation_p.I578V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	578					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCAGCGGCTATCTTAAGTACC	0.368																																																0																																										SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1732A>G	chr1.hg19:g.236749736T>C	ENSP00000355541:p.Ile578Val		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	hg19	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.926731	0.00493	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.42900	0.96;0.96	5.28	-2.98	0.05513	Armadillo-like helical (1);Armadillo-type fold (1);	0.667620	0.15450	N	0.261734	T	0.13157	0.0319	N	0.03115	-0.41	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.13019	-1.0525	10	0.26408	T	0.33	.	1.7301	0.02930	0.1285:0.3195:0.2162:0.3358	.	578	Q9H583	HEAT1_HUMAN	V	578	ENSP00000355541:I578V;ENSP00000355540:I578V	ENSP00000355540:I578V	I	-	1	0	HEATR1	234816359	0.001000	0.12720	0.931000	0.37212	0.129000	0.20672	-0.294000	0.08309	-0.174000	0.10743	0.460000	0.39030	ATA		0.368	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		C	236749736	T	C	236749736	3	2	461	1	0	0	0	0	1	0	0	0	7029	1435	50	3	4826	3	HEATR1	1	236749736	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	11641	236749736	12500885	3	25110											
CAD	51374	hgsc.bcm.edu	37	2	27440797	27440797	+	IGR	SNP	C	C	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:27440797C>A	ENST00000606999.1	+	0	956				CAD_ENST00000264705.4_Nonsense_Mutation_p.Y45*|CAD_ENST00000403525.1_Nonsense_Mutation_p.Y45*	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											ATCCCTCCTACAAGGCACAGA	0.572																																																0													124	115	118					2																	27440797		2203	4300	6503	SO:0001628	intergenic_variant	790			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"apoptosis-related protein 3"		"chromosome 2 open reading frame 28"	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405		chr2.hg19:g.27440797C>A			A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Nonsense_Mutation	SNP	ENST00000606999.1	hg19		.	.	.	.	.	.	.	.	.	.	C	31	5.075282	0.94000	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	.	.	.	5.05	4.17	0.49024	.	0.070247	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0623	12.2333	0.54500	0.0:0.917:0.0:0.083	.	.	.	.	X	45	.	ENSP00000264705:Y45X	Y	+	3	2	CAD	27294301	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	2.602000	0.46257	1.351000	0.45789	0.484000	0.47621	TAC		0.572	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085		A	27440797	C	A	27440797	1	1	461	0	1	0	0	0	0	0	0	0	2567	489	17	4		4	CAD	2	27440797	IGR	SNP	C	TCGA-BQ-5885-01A-11D-1589-08		27440797	215758576	4	25111											
RTN4	57142	hgsc.bcm.edu	37	2	55253513	55253514	+	Missense_Mutation	DNP	TT	TT	AG			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:55253513_55253514TT>AG	ENST00000337526.6	-	3	1964_1965	c.1721_1722AA>CT	c.(1720-1722)gAA>gCT	p.E574A	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.E368A|RTN4_ENST00000404909.1_Missense_Mutation_p.E368A|RTN4_ENST00000394611.2_Missense_Mutation_p.E368A|RTN4_ENST00000354474.6_Missense_Mutation_p.E342A|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.E368A	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	574					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CCATTTTTGTTTCATAAGCAAT	0.416																																																0																																										SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1721_1722delinsAG	chr2.hg19:g.55253513_55253514delinsAG	ENSP00000337838:p.Glu574Ala		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	hg19	CCDS42684.1																																																																																				0.416	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			AG	55253514	TT	AG	55253513	3	1	461	1	0	0	0	0	1	0	0	0	13734	1838	64	5	1922	5	RTN4	2	55253513	Missense_Mutation	DNP	TT	TCGA-BQ-5885-01A-11D-1589-08	27812716	55253513	187945860	5	25112											
USP34	9736	hgsc.bcm.edu	37	2	61505306	61505306	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:61505306delT	ENST00000398571.2	-	41	5503	c.5427delA	c.(5425-5427)gaafs	p.E1809fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1809					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTACCTGTCCTTCCCTTGAAA	0.343																																																0													92	79	84					2																	61505306		1864	4092	5956	SO:0001589	frameshift_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5427delA	chr2.hg19:g.61505306delT	ENSP00000381577:p.Glu1809fs		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Frame_Shift_Del	DEL	ENST00000398571.2	hg19	CCDS42686.1																																																																																				0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			-	61505306	T	-	61505306	7	5	461	1	0	1	0	1	0	0	0	0	17070	1606	56	0	5373	0	USP34	2	61505306	Frame_Shift_Del	DEL	T	TCGA-BQ-5885-01A-11D-1589-08	6251793	61505306	181694067	6	25113											
ALMS1	7840	hgsc.bcm.edu	37	2	73680677	73680677	+	Silent	SNP	T	T	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:73680677T>C	ENST00000264448.6	+	8	7131	c.7020T>C	c.(7018-7020)aaT>aaC	p.N2340N	ALMS1_ENST00000377715.1_Silent_p.N2340N|ALMS1_ENST00000409009.1_Silent_p.N2298N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2340					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CACAGACGAATTTGAAATGCC	0.448																																																0													56	53	54					2																	73680677		1872	4112	5984	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7020T>C	chr2.hg19:g.73680677T>C			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	hg19	CCDS42697.1																																																																																				0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		C	73680677	T	C	73680677	2	2	461	1	0	0	0	0	0	0	0	1	535	1490	52	3		3	ALMS1	2	73680677	Silent	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	12175371	73680677	169518696	7	25114											
SEMA4F	10505	hgsc.bcm.edu	37	2	74902749	74902749	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:74902749G>A	ENST00000357877.2	+	11	1619	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	SEMA4F_ENST00000339773.5_Missense_Mutation_p.M335I|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	490	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.M490I(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TTGAGAACATGAAATTGTACC	0.512																																																1	Substitution - Missense(1)	large_intestine(1)											102	91	95					2																	74902749		2203	4300	6503	SO:0001583	missense	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1470G>A	chr2.hg19:g.74902749G>A	ENSP00000350547:p.Met490Ile		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	hg19	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818592	0.32145	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.32023	1.47;1.47	4.5	3.58	0.41010	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.129054	0.51477	D	0.000093	T	0.17916	0.0430	N	0.12887	0.27	0.34285	D	0.682588	B;B	0.14012	0.003;0.009	B;B	0.15052	0.007;0.012	T	0.15983	-1.0418	10	0.46703	T	0.11	.	12.2822	0.54771	0.0:0.1859:0.814:0.0	.	335;490	O95754-2;O95754	.;SEM4F_HUMAN	I	490;335	ENSP00000350547:M490I;ENSP00000342675:M335I	ENSP00000342675:M335I	M	+	3	0	SEMA4F	74756257	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.936000	0.40183	2.333000	0.79357	0.467000	0.42956	ATG		0.512	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		A	74902749	G	A	74902749	3	1	461	1	0	0	0	0	1	0	0	0	14041	1290	45	2	1512	2	SEMA4F	2	74902749	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	1222072	74902749	168296624	8	25115											
TBC1D8	11138	hgsc.bcm.edu	37	2	101670697	101670697	+	Silent	SNP	G	G	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:101670697G>A	ENST00000376840.4	-	4	458	c.459C>T	c.(457-459)ttC>ttT	p.F153F	TBC1D8_ENST00000409318.1_Silent_p.F168F			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	153	GRAM 1.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCGCCTCGGGGAAGTTGAACC	0.617																																																0													35	41	39					2																	101670697		2066	4231	6297	SO:0001819	synonymous_variant	11138			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.459C>T	chr2.hg19:g.101670697G>A			A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	hg19	CCDS46375.1																																																																																				0.617	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		A	101670697	G	A	101670697	2	1	461	1	0	0	0	0	0	0	0	1	15630	1165	41	2		2	TBC1D8	2	101670697	Silent	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	26767948	101670697	141528676	9	25116											
TMEM177	80775	hgsc.bcm.edu	37	2	120439354	120439354	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:120439354G>A	ENST00000424086.1	+	2	1398	c.925G>A	c.(925-927)Ggc>Agc	p.G309S	TMEM177_ENST00000272521.6_Missense_Mutation_p.G309S|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.G309S	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	309						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GCTCAATCCGGGCCGCTCCTG	0.577																																																0													43	47	46					2																	120439354		2201	4299	6500	SO:0001583	missense	80775			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.925G>A	chr2.hg19:g.120439354G>A	ENSP00000402661:p.Gly309Ser		Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	hg19	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928205	0.34002	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.31510	1.49;1.49;1.49	4.44	2.51	0.30379	.	0.000000	0.53938	D	0.000044	T	0.16041	0.0386	N	0.17674	0.51	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.18085	-1.0348	10	0.25751	T	0.34	-4.387	5.7699	0.18247	0.1213:0.1952:0.6835:0.0	.	309	Q53S58	TM177_HUMAN	S	309;309;309;248	ENSP00000385966:G309S;ENSP00000402661:G309S;ENSP00000272521:G309S	ENSP00000272521:G309S	G	+	1	0	TMEM177	120155824	0.003000	0.15002	0.010000	0.14722	0.097000	0.18754	0.068000	0.14531	0.514000	0.28300	0.549000	0.68633	GGC		0.577	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		A	120439354	G	A	120439354	3	1	461	1	0	0	0	0	1	0	0	0	16099	1232	43	2	927	2	TMEM177	2	120439354	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	18768657	120439354	122760019	10	25117											
LRP1B	53353	hgsc.bcm.edu	37	2	141819633	141819633	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:141819633A>T	ENST00000389484.3	-	8	2194	c.1223T>A	c.(1222-1224)aTt>aAt	p.I408N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	408					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGCCTTGAATGACAGTGTG	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													217	197	204					2																	141819633		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1223T>A	chr2.hg19:g.141819633A>T	ENSP00000374135:p.Ile408Asn		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.491685	0.44249	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91686	-2.89	5.63	4.48	0.54585	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.371653	0.26734	N	0.022764	D	0.92047	0.7480	M	0.85630	2.765	0.23260	N	0.99803	B	0.27192	0.171	B	0.28849	0.095	D	0.86417	0.1752	10	0.72032	D	0.01	.	10.4218	0.44354	0.8641:0.0:0.1359:0.0	.	408	Q9NZR2	LRP1B_HUMAN	N	408;346	ENSP00000374135:I408N	ENSP00000374135:I408N	I	-	2	0	LRP1B	141536103	1.000000	0.71417	0.763000	0.31416	0.516000	0.34256	5.279000	0.65597	1.070000	0.40811	0.533000	0.62120	ATT		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141819633	A	T	141819633	3	4	461	1	0	0	0	0	1	0	0	0	8957	101	4	5	12912	5	LRP1B	2	141819633	Missense_Mutation	SNP	A	TCGA-BQ-5885-01A-11D-1589-08	21380279	141819633	101379740	11	25118											
LRP2	4036	hgsc.bcm.edu	37	2	170083080	170083080	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:170083080A>G	ENST00000263816.3	-	32	5531	c.5246T>C	c.(5245-5247)aTa>aCa	p.I1749T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1749					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CCTTACAGTTATTAAGAAAGG	0.368																																																0													79	76	77					2																	170083080		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5246T>C	chr2.hg19:g.170083080A>G	ENSP00000263816:p.Ile1749Thr		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.652915	0.67472	.	.	ENSG00000081479	ENST00000263816	D	0.90900	-2.75	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.111411	0.64402	D	0.000005	D	0.90943	0.7153	M	0.83223	2.63	0.80722	D	1	P	0.40144	0.704	B	0.35971	0.215	D	0.92052	0.5649	10	0.87932	D	0	.	16.2041	0.82108	1.0:0.0:0.0:0.0	.	1749	P98164	LRP2_HUMAN	T	1749	ENSP00000263816:I1749T	ENSP00000263816:I1749T	I	-	2	0	LRP2	169791326	1.000000	0.71417	0.916000	0.36221	0.996000	0.88848	9.310000	0.96267	2.219000	0.72066	0.533000	0.62120	ATA		0.368	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170083080	A	G	170083080	3	3	461	1	0	0	0	0	1	0	0	0	8958	449	16	3	8913	3	LRP2	2	170083080	Missense_Mutation	SNP	A	TCGA-BQ-5885-01A-11D-1589-08	28263447	170083080	73116293	12	25119											
EPHA4	2043	hgsc.bcm.edu	37	2	222365873	222365873	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:222365873delG	ENST00000281821.2	-	4	884	c.843delC	c.(841-843)tacfs	p.Y281fs	EPHA4_ENST00000409854.1_Frame_Shift_Del_p.Y281fs|EPHA4_ENST00000409938.1_Frame_Shift_Del_p.Y281fs|EPHA4_ENST00000392071.4_Frame_Shift_Del_p.Y230fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	281	Cys-rich.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AGAGAGCCTTGTAATATCCAA	0.483																																																0													59	57	57					2																	222365873		2203	4300	6503	SO:0001589	frameshift_variant	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.843delC	chr2.hg19:g.222365873delG	ENSP00000281821:p.Tyr281fs		A8K2P1|B2R601|B7Z6Q8|Q2M380	Frame_Shift_Del	DEL	ENST00000281821.2	hg19	CCDS2447.1																																																																																				0.483	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			-	222365873	G	-	222365873	7	5	461	1	0	1	0	1	0	0	0	0	5171	1372	48	0	2173	0	EPHA4	2	222365873	Frame_Shift_Del	DEL	G	TCGA-BQ-5885-01A-11D-1589-08	52282793	222365873	20833500	13	25120											
CUL3	8452	hgsc.bcm.edu	37	2	225422516	225422516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:225422516G>A	ENST00000264414.4	-	2	462	c.124C>T	c.(124-126)Caa>Taa	p.Q42*	CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q18*|CUL3_ENST00000344951.4_Intron|CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q18*|CUL3_ENST00000432260.2_5'UTR	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	42					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGGATTTCTTGAATTGCATTT	0.333																																																0													88	85	86					2																	225422516		2201	4298	6499	SO:0001587	stop_gained	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.124C>T	chr2.hg19:g.225422516G>A	ENSP00000264414:p.Gln42*		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Nonsense_Mutation	SNP	ENST00000264414.4	hg19	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.780125|8.780125	0.98952|0.98952	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000264414;ENST00000409096;ENST00000409777|ENST00000436172	.|.	.|.	.|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76941	.|0.4058	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74262	.|-0.3722	.|4	0.07030|.	T|.	0.85|.	.|.	20.1731|20.1731	0.98165|0.98165	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	42;18;18|62	.|.	ENSP00000264414:Q42X|.	Q|S	-|-	1|2	0|0	CUL3|CUL3	225130760|225130760	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.714000|9.714000	0.98744|0.98744	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.333	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			A	225422516	G	A	225422516	4	1	461	1	0	0	0	0	0	1	0	0	4058	1299	45	2	2242	2	CUL3	2	225422516	Nonsense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	3056643	225422516	17776857	14	25121											
USP40	55230	hgsc.bcm.edu	37	2	234449396	234449396	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:234449396G>T	ENST00000427112.2	-	9	1114	c.1079C>A	c.(1078-1080)cCt>cAt	p.P360H	USP40_ENST00000251722.6_Missense_Mutation_p.P360H|USP40_ENST00000450966.1_Missense_Mutation_p.P372H			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	360	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.P372R(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTGATCAACAGGAATTAGATT	0.378																																																2	Substitution - Missense(2)	lung(2)											169	157	160					2																	234449396		1838	4092	5930	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1079C>A	chr2.hg19:g.234449396G>T	ENSP00000387898:p.Pro360His		Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	hg19	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544257	0.65198	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.05258	3.47;3.48;3.48	5.31	3.39	0.38822	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.336030	0.05934	U	0.635709	T	0.18718	0.0449	L	0.55481	1.735	0.30283	N	0.791122	D;D	0.57899	0.981;0.976	P;P	0.60068	0.868;0.792	T	0.07214	-1.0784	10	0.72032	D	0.01	.	9.7296	0.40352	0.0745:0.0:0.7855:0.1401	.	360;372	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	H	372;360;360	ENSP00000415434:P372H;ENSP00000251722:P360H;ENSP00000387898:P360H	ENSP00000251722:P360H	P	-	2	0	USP40	234114135	1.000000	0.71417	0.952000	0.39060	0.980000	0.70556	2.988000	0.49386	1.373000	0.46208	0.561000	0.74099	CCT		0.378	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		T	234449396	G	T	234449396	3	4	461	1	0	0	0	0	1	0	0	0	17077	1000	35	4	2720	4	USP40	2	234449396	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	9026880	234449396	8749977	15	25122											
TRPM8	79054	hgsc.bcm.edu	37	2	234847784	234847784	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:234847784T>A	ENST00000324695.4	+	5	531	c.491T>A	c.(490-492)aTc>aAc	p.I164N	TRPM8_ENST00000355722.4_Missense_Mutation_p.I114N|TRPM8_ENST00000409625.1_Missense_Mutation_p.I87N|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	164					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGCGCAAGATCTTCAGCCGG	0.607																																																0													36	38	37					2																	234847784		2203	4300	6503	SO:0001583	missense	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.491T>A	chr2.hg19:g.234847784T>A	ENSP00000323926:p.Ile164Asn		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	hg19	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	t	21.2	4.109476	0.77096	.	.	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	T;T;T	0.81163	-1.46;-1.46;-1.46	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.90181	0.6931	M	0.84585	2.705	0.80722	D	1	P;D	0.71674	0.567;0.998	B;D	0.74023	0.343;0.982	D	0.91731	0.5396	10	0.87932	D	0	-40.7179	14.6612	0.68873	0.0:0.0:0.0:1.0	.	114;164	Q7Z2W7-2;Q7Z2W7	.;TRPM8_HUMAN	N	164;114;87	ENSP00000323926:I164N;ENSP00000347956:I114N;ENSP00000386771:I87N	ENSP00000323926:I164N	I	+	2	0	TRPM8	234512523	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.795000	0.62489	2.154000	0.67381	0.478000	0.44815	ATC		0.607	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		A	234847784	T	A	234847784	3	1	461	1	0	0	0	0	1	0	0	0	16597	1435	50	5	505	5	TRPM8	2	234847784	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	398388	234847784	8351589	16	25123											
ATP2B2	491	hgsc.bcm.edu	37	3	10387742	10387742	+	Silent	SNP	G	G	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:10387742G>A	ENST00000352432.4	-	16	2553	c.2484C>T	c.(2482-2484)ctC>ctT	p.L828L	ATP2B2_ENST00000360273.2_Silent_p.L828L|ATP2B2_ENST00000383800.4_Silent_p.L783L|ATP2B2_ENST00000397077.1_Silent_p.L783L|ATP2B2_ENST00000343816.4_Silent_p.L814L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	828					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCCTTCTTGAGTGCAGGCC	0.652																																					Ovarian(125;1619 1709 15675 19819 38835)											0													62	56	58					3																	10387742		2203	4300	6503	SO:0001819	synonymous_variant	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2484C>T	chr3.hg19:g.10387742G>A			O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	hg19	CCDS33701.1																																																																																				0.652	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		A	10387742	G	A	10387742	2	1	461	1	0	0	0	0	0	0	0	1	1140	1277	45	2		2	ATP2B2	3	10387742	Silent	SNP	G	TCGA-BQ-5885-01A-11D-1589-08		10387742	187634688	17	25124											
ZNF502	91392	hgsc.bcm.edu	37	3	44762384	44762384	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:44762384delG	ENST00000296091.4	+	4	331	c.75delG	c.(73-75)aagfs	p.K25fs	ZNF502_ENST00000436624.2_Frame_Shift_Del_p.K25fs|ZNF502_ENST00000449836.1_Frame_Shift_Del_p.K25fs	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACAAGAACAAGCCTGCTCTGG	0.418																																																0													59	63	61					3																	44762384		2203	4300	6503	SO:0001589	frameshift_variant	91392			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.75delG	chr3.hg19:g.44762384delG	ENSP00000296091:p.Lys25fs			Frame_Shift_Del	DEL	ENST00000296091.4	hg19	CCDS2719.1																																																																																				0.418	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		-	44762384	G	-	44762384	7	5	461	1	0	1	0	1	0	0	0	0	17955	962	34	0	81	0	ZNF502	3	44762384	Frame_Shift_Del	DEL	G	TCGA-BQ-5885-01A-11D-1589-08	34374642	44762384	153260046	18	25125											
FYCO1	79443	hgsc.bcm.edu	37	3	46009968	46009968	+	Silent	SNP	C	C	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:46009968C>T	ENST00000296137.2	-	8	1063	c.858G>A	c.(856-858)gaG>gaA	p.E286E	FYCO1_ENST00000535325.1_Silent_p.E286E	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	286					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GAACGTTGTCCTCCGCTGCAG	0.617																																																0													102	85	91					3																	46009968		2203	4300	6503	SO:0001819	synonymous_variant	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.858G>A	chr3.hg19:g.46009968C>T			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	hg19	CCDS2734.1																																																																																				0.617	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		T	46009968	C	T	46009968	2	4	461	1	0	0	0	0	0	0	0	1	6127	680	24	2		2	FYCO1	3	46009968	Silent	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	1247584	46009968	152012462	19	25126											
CCR5	1234	hgsc.bcm.edu	37	3	46415150	46415150	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:46415150A>T	ENST00000292303.4	+	2	903	c.757A>T	c.(757-759)Att>Ttt	p.I253F	CCR5_ENST00000445772.1_Missense_Mutation_p.I253F|CCR5_ENST00000343801.4_Missense_Mutation_p.I253F|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	253					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TCCCTACAACATTGTCCTTCT	0.463																																																0													227	243	237					3																	46415150		2203	4296	6499	SO:0001583	missense	1234				CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1606	protein-coding gene	gene with protein product		601373	"chemokine (C-C motif) receptor 5"	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.757A>T	chr3.hg19:g.46415150A>T	ENSP00000292303:p.Ile253Phe		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	hg19	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923708	0.73213	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.76060	-0.99;-0.99;-0.99	5.69	-3.74	0.04385	GPCR, rhodopsin-like superfamily (1);	0.268702	0.24301	U	0.039739	D	0.85128	0.5626	H	0.96691	3.865	0.49687	D	0.999818	D	0.53885	0.963	P	0.59889	0.865	D	0.83665	0.0163	10	0.87932	D	0	.	6.5629	0.22495	0.4959:0.3178:0.1864:0.0	.	253	P51681	CCR5_HUMAN	F	253;233;253;253	ENSP00000343985:I253F;ENSP00000292303:I253F;ENSP00000404881:I253F	ENSP00000292303:I253F	I	+	1	0	CCR5	46390154	0.942000	0.31987	0.996000	0.52242	0.849000	0.48306	0.234000	0.17930	-0.152000	0.11156	0.459000	0.35465	ATT		0.463	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		T	46415150	A	T	46415150	3	4	461	1	0	0	0	0	1	0	0	0	2946	217	8	5	759	5	CCR5	3	46415150	Missense_Mutation	SNP	A	TCGA-BQ-5885-01A-11D-1589-08	405182	46415150	151607280	20	25127											
QTRTD1	79691	hgsc.bcm.edu	37	3	113798773	113798773	+	Missense_Mutation	SNP	G	G	A	rs199551955		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:113798773G>A	ENST00000493014.1	+	4	517	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	QTRTD1_ENST00000479882.1_Missense_Mutation_p.R133Q|QTRTD1_ENST00000485050.1_Missense_Mutation_p.R268Q|QTRTD1_ENST00000281273.4_Missense_Mutation_p.R256Q	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GGTGTTAGTCGGCCAGATGAG	0.423													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19554	0.0		0.0	False		,,,				2504	0.0															0													180	174	176					3																	113798773		2203	4300	6503	SO:0001583	missense	79691			AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.449G>A	chr3.hg19:g.113798773G>A	ENSP00000419169:p.Arg150Gln			Missense_Mutation	SNP	ENST00000493014.1	hg19	CCDS58845.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505730	0.26949	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	5.58	-1.43	0.08884	.	0.364818	0.28760	N	0.014230	T	0.33702	0.0872	L	0.40543	1.245	0.34875	D	0.744043	B;B	0.29590	0.25;0.015	B;B	0.20384	0.029;0.006	T	0.13098	-1.0522	9	0.44086	T	0.13	-0.6577	6.1058	0.20073	0.3234:0.0:0.4693:0.2072	.	150;256	B7Z472;Q9H974	.;QTRD1_HUMAN	Q	268;256;133;150	.	ENSP00000281273:R256Q	R	+	2	0	QTRTD1	115281463	0.996000	0.38824	0.856000	0.33681	0.200000	0.23975	1.800000	0.38833	-0.186000	0.10533	0.555000	0.69702	CGG		0.423	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		A	113798773	G	A	113798773	3	1	461	1	0	0	0	0	1	0	0	0	12892	1116	39	1	789	1	QTRTD1	3	113798773	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	67383623	113798773	84223657	21	25128											
ZBBX	79740	hgsc.bcm.edu	37	3	167083714	167083714	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:167083714T>G	ENST00000392766.2	-	6	573	c.233A>C	c.(232-234)cAa>cCa	p.Q78P	ZBBX_ENST00000455345.2_Missense_Mutation_p.Q78P|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q78P|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q78P|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q49P|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	78						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CATATATGATTGATTGACCAA	0.289																																																0													116	108	111					3																	167083714		1824	4071	5895	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.233A>C	chr3.hg19:g.167083714T>G	ENSP00000376519:p.Gln78Pro		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	hg19	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	5.789	0.329827	0.10956	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.32988	2.92;2.92;2.92;2.92;2.74;1.43	5.26	-1.63	0.08345	.	.	.	.	.	T	0.20047	0.0482	L	0.44542	1.39	0.09310	N	0.999994	B;B	0.12630	0.006;0.003	B;B	0.16289	0.015;0.004	T	0.31530	-0.9940	9	0.52906	T	0.07	-2.1505	1.0522	0.01582	0.1499:0.2902:0.1547:0.4052	.	78;78	A8MT70-2;A8MT70	.;ZBBX_HUMAN	P	78;78;78;78;49;78	ENSP00000376519:Q78P;ENSP00000376520:Q78P;ENSP00000390232:Q78P;ENSP00000305065:Q78P;ENSP00000376517:Q49P;ENSP00000419307:Q78P	ENSP00000305065:Q78P	Q	-	2	0	ZBBX	168566408	0.486000	0.25980	0.013000	0.15412	0.018000	0.09664	0.353000	0.20130	-0.448000	0.07128	-0.386000	0.06593	CAA		0.289	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		G	167083714	T	G	167083714	3	3	461	1	0	0	0	0	1	0	0	0	17521	1812	63	5	2233	5	ZBBX	3	167083714	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	53284941	167083714	30938716	22	25129											
TNFSF10	8743	hgsc.bcm.edu	37	3	172224404	172224404	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:172224404T>A	ENST00000241261.2	-	5	846	c.724A>T	c.(724-726)Atc>Ttc	p.I242F	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	242					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCTTGATAGATGGAATAGAGT	0.333																																																0													168	163	165					3																	172224404		2203	4300	6503	SO:0001583	missense	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.724A>T	chr3.hg19:g.172224404T>A	ENSP00000241261:p.Ile242Phe		A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	hg19	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.600378	0.46423	.	.	ENSG00000121858	ENST00000241261	D	0.95412	-3.7	5.68	4.5	0.54988	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.323500	0.37530	N	0.002051	D	0.97604	0.9215	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97812	1.0251	10	0.72032	D	0.01	-18.1925	13.2187	0.59875	0.0:0.0:0.1329:0.8671	.	242	P50591	TNF10_HUMAN	F	242	ENSP00000241261:I242F	ENSP00000241261:I242F	I	-	1	0	TNFSF10	173707098	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	3.882000	0.56160	1.065000	0.40693	0.482000	0.46254	ATC		0.333	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			A	172224404	T	A	172224404	3	1	461	1	0	0	0	0	1	0	0	0	16306	1464	51	5	125	5	TNFSF10	3	172224404	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	5140690	172224404	25798026	23	25130											
OTOP1	133060	hgsc.bcm.edu	37	4	4199006	4199007	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:4199006_4199007TC>CT	ENST00000296358.4	-	5	1578_1579	c.1554_1555GA>AG	c.(1552-1557)gaGAgc>gaAGgc	p.S519G		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	519					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCCAGCTGCTCTCCTCCTGCT	0.564																																																0																																										SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1554_1555delinsCT	chr4.hg19:g.4199006_4199007delinsCT	ENSP00000296358:p.Ser519Gly		A1L476	Missense_Mutation|Silent	SNP	ENST00000296358.4	hg19	CCDS3372.1																																																																																				0.564	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		CT	4199007	TC	CT	4199006	3	2	461	1	0	0	0	0	1	0	0	0	11307	1551	54	3	291	3	OTOP1	4	4199006	Missense_Mutation	DNP	TC	TCGA-BQ-5885-01A-11D-1589-08		4199006	186955270	24	25131											
SDAD1	55153	hgsc.bcm.edu	37	4	76877179	76877179	+	Silent	SNP	C	C	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:76877179C>T	ENST00000356260.5	-	21	2083	c.1965G>A	c.(1963-1965)cgG>cgA	p.R655R	AC110615.1_ENST00000599764.1_Silent_p.Y41Y|SDAD1_ENST00000395711.4_Silent_p.R618R	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	655					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGGCTATACCGCATCATCA	0.393																																																0													242	227	232					4																	76877179		2203	4300	6503	SO:0001819	synonymous_variant	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1965G>A	chr4.hg19:g.76877179C>T			Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP	ENST00000356260.5	hg19	CCDS3573.2																																																																																				0.393	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		T	76877179	C	T	76877179	2	4	461	1	0	0	0	0	0	0	0	1	13956	494	18	2		2	SDAD1	4	76877179	Silent	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	72678173	76877179	114277097	25	25132											
ADAD1	132612	hgsc.bcm.edu	37	4	123336554	123336554	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:123336554A>G	ENST00000296513.2	+	11	1455	c.1270A>G	c.(1270-1272)Acc>Gcc	p.T424A	ADAD1_ENST00000388725.2_Missense_Mutation_p.T406A|ADAD1_ENST00000388724.2_Missense_Mutation_p.T413A	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	424	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGCAGTGATACCAGAGGCTT	0.333																																																0													103	100	101					4																	123336554		2203	4300	6503	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1270A>G	chr4.hg19:g.123336554A>G	ENSP00000296513:p.Thr424Ala		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	hg19	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169474	0.38315	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93133	-3.17;-3.17;-3.17	5.12	3.94	0.45596	Adenosine deaminase/editase (3);	0.310779	0.32987	N	0.005405	D	0.91375	0.7279	L	0.39020	1.185	0.31646	N	0.64739	P;D	0.58620	0.745;0.983	B;P	0.60286	0.382;0.872	D	0.86329	0.1697	10	0.08599	T	0.76	-14.2059	7.0801	0.25227	0.7952:0.0:0.0737:0.1312	.	413;424	Q96M93-2;Q96M93	.;ADAD1_HUMAN	A	424;413;406	ENSP00000296513:T424A;ENSP00000373376:T413A;ENSP00000373377:T406A	ENSP00000296513:T424A	T	+	1	0	ADAD1	123556004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.208000	0.58486	0.800000	0.34041	0.528000	0.53228	ACC		0.333	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		G	123336554	A	G	123336554	3	3	461	1	0	0	0	0	1	0	0	0	231	391	14	3	1304	3	ADAD1	4	123336554	Missense_Mutation	SNP	A	TCGA-BQ-5885-01A-11D-1589-08	46459375	123336554	67817722	26	25133											
PLK4	10733	hgsc.bcm.edu	37	4	128804442	128804442	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:128804442C>T	ENST00000270861.5	+	3	426	c.152C>T	c.(151-153)gCa>gTa	p.A51V	PLK4_ENST00000507249.1_Missense_Mutation_p.A51V|PLK4_ENST00000515069.1_Missense_Mutation_p.A51V|PLK4_ENST00000513090.1_Intron|PLK4_ENST00000514379.1_Missense_Mutation_p.A10V|PLK4_ENST00000511942.1_3'UTR	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATGTACAAAGCAGGAATGGTA	0.308																																					Colon(135;508 1718 19061 31832 42879)											0													71	71	71					4																	128804442		2203	4299	6502	SO:0001583	missense	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.152C>T	chr4.hg19:g.128804442C>T	ENSP00000270861:p.Ala51Val		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	hg19	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815330	0.50527	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000507249;ENST00000514379	T;T;T;T	0.65732	-0.17;-0.17;-0.17;1.83	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110302	0.64402	D	0.000009	T	0.49218	0.1544	L	0.36672	1.1	0.48901	D	0.999727	B	0.23128	0.08	B	0.27608	0.081	T	0.46105	-0.9215	10	0.31617	T	0.26	-8.6513	7.0116	0.24865	0.0:0.79:0.0:0.21	.	51	O00444	PLK4_HUMAN	V	51;51;51;10	ENSP00000270861:A51V;ENSP00000421774:A51V;ENSP00000423412:A51V;ENSP00000423582:A10V	ENSP00000270861:A51V	A	+	2	0	PLK4	129023892	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.422000	0.52749	2.520000	0.84964	0.655000	0.94253	GCA		0.308	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			T	128804442	C	T	128804442	3	4	461	1	0	0	0	0	1	0	0	0	12100	710	25	2	162	2	PLK4	4	128804442	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	5467888	128804442	62349834	27	25134											
LRBA	987	hgsc.bcm.edu	37	4	151829520	151829520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:151829520G>A	ENST00000357115.3	-	11	1702	c.1459C>T	c.(1459-1461)Caa>Taa	p.Q487*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.Q487*|LRBA_ENST00000535741.1_Nonsense_Mutation_p.Q487*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.Q487*	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	487						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GACAAATATTGCCTGTAATCC	0.363																																																0													126	121	122					4																	151829520		2203	4300	6503	SO:0001587	stop_gained	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1459C>T	chr4.hg19:g.151829520G>A	ENSP00000349629:p.Gln487*		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	ENST00000357115.3	hg19	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	43	9.887563	0.99288	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.	.	.	5.63	5.63	0.86233	.	0.000000	0.48286	U	0.000186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	20.047	0.97613	0.0:0.0:1.0:0.0	.	.	.	.	X	487	.	ENSP00000349629:Q487X	Q	-	1	0	LRBA	152048970	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.120000	0.94369	2.802000	0.96397	0.563000	0.77884	CAA		0.363	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			A	151829520	G	A	151829520	4	1	461	1	0	0	0	0	0	1	0	0	8933	1328	46	2	7324	2	LRBA	4	151829520	Nonsense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	23025078	151829520	39324756	28	25135											
FAT1	2195	hgsc.bcm.edu	37	4	187540288	187540291	+	Frame_Shift_Del	DEL	TCCA	TCCA	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	TCCA	TCCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:187540288_187540291delTCCA	ENST00000441802.2	-	10	7658_7661	c.7449_7452delTGGA	c.(7447-7452)attggafs	p.IG2483fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2483	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCAAATTGCCTCCAATTACAGTTA	0.471										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0																																										SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7449_7452delTGGA	chr4.hg19:g.187540288_187540291delTCCA	ENSP00000406229:p.Ile2483fs			Frame_Shift_Del	DEL	ENST00000441802.2	hg19	CCDS47177.1																																																																																				0.471	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		-	187540291	TCCA	-	187540288	7	5	461	1	0	1	0	1	0	0	0	0	5691	1538	54	0	6386	0	FAT1	4	187540288	Frame_Shift_Del	DEL	TCCA	TCGA-BQ-5885-01A-11D-1589-08	35710768	187540288	3613988	29	25136											
GOLPH3	64083	hgsc.bcm.edu	37	5	32126417	32126417	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:32126417C>A	ENST00000265070.6	-	4	1113	c.798G>T	c.(796-798)aaG>aaT	p.K266N	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	266					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GCCGCACTCTCTTGGTAGCCA	0.552																																																0													94	80	85					5																	32126417		2203	4300	6503	SO:0001583	missense	64083			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.798G>T	chr5.hg19:g.32126417C>A	ENSP00000265070:p.Lys266Asn		Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	hg19	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	8.954	0.968949	0.18659	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.17	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	L	0.60845	1.875	0.80722	D	1	D	0.63046	0.992	P	0.61328	0.887	T	0.60944	-0.7162	9	0.23302	T	0.38	.	7.4739	0.27365	0.1395:0.7289:0.0:0.1316	.	266	Q9H4A6	GOLP3_HUMAN	N	266;249	.	ENSP00000265070:K266N	K	-	3	2	GOLPH3	32162174	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	2.589000	0.46145	1.606000	0.50161	-0.182000	0.12963	AAG		0.552	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		A	32126417	C	A	32126417	3	1	461	1	0	0	0	0	1	0	0	0	6570	912	32	4	102	4	GOLPH3	5	32126417	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08		32126417	148788843	30	25137											
GPBP1	65056	hgsc.bcm.edu	37	5	56545332	56545332	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:56545332T>G	ENST00000506184.2	+	9	2006	c.901T>G	c.(901-903)Ttt>Gtt	p.F301V	GPBP1_ENST00000454432.2_Missense_Mutation_p.F321V|GPBP1_ENST00000514387.2_Missense_Mutation_p.F130V|GPBP1_ENST00000538707.1_Missense_Mutation_p.F308V|GPBP1_ENST00000424459.3_Missense_Mutation_p.F321V|GPBP1_ENST00000264779.6_Missense_Mutation_p.F308V|GPBP1_ENST00000511209.1_Missense_Mutation_p.F293V			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	301					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GAAGAGTGAATTTTTGAAAGC	0.388																																																0													107	104	105					5																	56545332		2203	4299	6502	SO:0001583	missense	65056				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.901T>G	chr5.hg19:g.56545332T>G	ENSP00000421202:p.Phe301Val		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	hg19	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987062	0.74589	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.59364	1.24;0.27;1.3;1.24;1.24;1.3;1.3	6.16	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.55970	0.1954	M	0.62723	1.935	0.46701	D	0.999164	P;P;P;P	0.47545	0.897;0.728;0.728;0.728	B;B;B;B	0.42214	0.38;0.294;0.23;0.294	T	0.60632	-0.7225	10	0.87932	D	0	-10.4	11.4966	0.50413	0.1338:0.0:0.0:0.8662	.	321;308;293;301	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	V	321;130;301;321;293;308;308	ENSP00000401596:F321V;ENSP00000421709:F130V;ENSP00000421202:F301V;ENSP00000403522:F321V;ENSP00000422337:F293V;ENSP00000264779:F308V;ENSP00000440090:F308V	ENSP00000264779:F308V	F	+	1	0	GPBP1	56581089	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.480000	0.66820	1.110000	0.41699	0.528000	0.53228	TTT		0.388	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		G	56545332	T	G	56545332	3	3	461	1	0	0	0	0	1	0	0	0	6597	1493	52	5	952	5	GPBP1	5	56545332	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	24418915	56545332	124369928	31	25138											
CD180	4064	hgsc.bcm.edu	37	5	66478708	66478708	+	Silent	SNP	T	T	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:66478708T>G	ENST00000256447.4	-	3	2120	c.1963A>C	c.(1963-1965)Agg>Cgg	p.R655R	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	655					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TATTTCCACCTGAGAAGGTAT	0.373																																																0													36	39	38					5																	66478708		2203	4300	6503	SO:0001819	synonymous_variant	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1963A>C	chr5.hg19:g.66478708T>G			B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	hg19	CCDS3992.1																																																																																				0.373	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		G	66478708	T	G	66478708	2	3	461	1	0	0	0	0	0	0	0	1	2974	1579	55	5		5	CD180	5	66478708	Silent	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	9933376	66478708	114436552	32	25139											
LNPEP	4012	hgsc.bcm.edu	37	5	96328816	96328816	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:96328816T>A	ENST00000231368.5	+	5	1921	c.1229T>A	c.(1228-1230)aTt>aAt	p.I410N	LNPEP_ENST00000395770.3_Missense_Mutation_p.I396N	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	410					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TACTTTGAAATTCAGTACCCA	0.303																																																0													66	67	67					5																	96328816		2202	4299	6501	SO:0001583	missense	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1229T>A	chr5.hg19:g.96328816T>A	ENSP00000231368:p.Ile410Asn		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	hg19	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.278587	0.80692	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.03035	4.07;4.07	4.94	4.94	0.65067	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.16100	-1.0414	10	0.87932	D	0	.	14.5573	0.68109	0.0:0.0:0.0:1.0	.	410	Q9UIQ6	LCAP_HUMAN	N	410;396	ENSP00000231368:I410N;ENSP00000379117:I396N	ENSP00000231368:I410N	I	+	2	0	LNPEP	96354572	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.757000	0.68766	1.964000	0.57103	0.455000	0.32223	ATT		0.303	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		A	96328816	T	A	96328816	3	1	461	1	0	0	0	0	1	0	0	0	8866	1493	52	5	1247	5	LNPEP	5	96328816	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	29850108	96328816	84586444	33	25140											
PCDHA9	9752	hgsc.bcm.edu	37	5	140228538	140228538	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:140228538C>A	ENST00000532602.1	+	1	1491	c.458C>A	c.(457-459)cCa>cAa	p.P153Q	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.P153Q|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	153	Cadherin 2. {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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCGGTTTCCACTAGAGGGC	0.547																																					Melanoma(55;1800 1972 14909)											0													54	51	52					5																	140228538		2202	4292	6494	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.458C>A	chr5.hg19:g.140228538C>A	ENSP00000436042:p.Pro153Gln		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	hg19	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352609	0.82132	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.48201	0.82;0.82	4.13	4.13	0.48395	Cadherin (3);Cadherin-like (1);	0.000000	0.31697	U	0.007216	T	0.67552	0.2905	M	0.83384	2.64	0.28140	N	0.929845	D;D	0.62365	0.986;0.991	D;P	0.64877	0.93;0.894	T	0.64719	-0.6341	10	0.87932	D	0	.	12.8791	0.58008	0.1634:0.8366:0.0:0.0	.	153;153	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	Q	153	ENSP00000436042:P153Q;ENSP00000367362:P153Q	ENSP00000367362:P153Q	P	+	2	0	PCDHA9	140208722	0.000000	0.05858	0.994000	0.49952	0.994000	0.84299	1.041000	0.30291	2.263000	0.75096	0.591000	0.81541	CCA		0.547	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		A	140228538	C	A	140228538	3	1	461	1	0	0	0	0	1	0	0	0	11533	594	21	4	460	4	PCDHA9	5	140228538	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	43899722	140228538	40686722	34	25141											
BAT1	7919	hgsc.bcm.edu	37	6	31507042	31507042	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr6:31507042T>C	ENST00000396172.1	-	3	851	c.221A>G	c.(220-222)gAg>gGg	p.E74G	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000458640.1_Missense_Mutation_p.E74G|DDX39B_ENST00000376177.2_Missense_Mutation_p.E74G|DDX39B_ENST00000453105.2_Intron|DDX39B_ENST00000417556.2_Missense_Mutation_p.E74G|DDX39B_ENST00000449074.2_Missense_Mutation_p.E74G|SNORD117_ENST00000364915.1_RNA|SNORD84_ENST00000584275.1_RNA|DDX39B_ENST00000415382.2_Intron|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	74					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGGGATGCACTCATGCTGGAC	0.507																																																0													100	108	105					6																	31507042		1511	2709	4220	SO:0001583	missense	7919			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.221A>G	chr6.hg19:g.31507042T>C	ENSP00000379475:p.Glu74Gly		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	hg19	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869256	0.72065	.	.	ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000427214;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000449074;ENST00000428450;ENST00000449757;ENST00000456976;ENST00000418897;ENST00000419020;ENST00000458215	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.53	5.53	0.82687	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	L	0.50993	1.605	0.80722	D	1	D;D;P	0.58970	0.984;0.972;0.897	P;P;P	0.57371	0.735;0.819;0.635	T	0.54221	-0.8326	10	0.72032	D	0.01	-22.5551	13.6077	0.62056	0.0:0.0:0.0:1.0	.	94;74;74	Q59G92;Q13838;Q5STU3	.;DX39B_HUMAN;.	G	74;74;74;74;74;74;74;74;74;74;97;74;89;74;74	ENSP00000365347:E74G;ENSP00000416269:E74G;ENSP00000379475:E74G;ENSP00000412582:E74G;ENSP00000399371:E74G;ENSP00000392672:E74G;ENSP00000410313:E74G;ENSP00000416350:E74G;ENSP00000391946:E74G;ENSP00000405707:E74G;ENSP00000409426:E97G;ENSP00000393984:E74G;ENSP00000399841:E89G;ENSP00000405245:E74G	ENSP00000365347:E74G	E	-	2	0	DDX39B	31615021	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.568000	0.82369	2.095000	0.63458	0.460000	0.39030	GAG		0.507	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		C	31507042	T	C	31507042	3	2	461	1	0	0	0	0	1	0	0	0	1318	1551	54	3	1101	3	BAT1	6	31507042	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08		31507042	139608025	35	25142											
DST	667	hgsc.bcm.edu	37	6	56347659	56347659	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr6:56347659A>G	ENST00000361203.3	-	84	20271	c.20264T>C	c.(20263-20265)tTg>tCg	p.L6755S	DST_ENST00000244364.6_Missense_Mutation_p.L4452S|DST_ENST00000446842.2_Missense_Mutation_p.L6540S|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.L4669S|DST_ENST00000421834.2_Missense_Mutation_p.L4778S|DST_ENST00000370769.4_Missense_Mutation_p.L6866S|DST_ENST00000370754.5_Missense_Mutation_p.L7044S			Q03001	DYST_HUMAN	dystonin	6754					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTCTTCCCCAACTCTTTTTG	0.448																																																0													53	52	52					6																	56347659		1871	4102	5973	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20264T>C	chr6.hg19:g.56347659A>G	ENSP00000354508:p.Leu6755Ser		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	hg19		.	.	.	.	.	.	.	.	.	.	A	18.68	3.676124	0.67928	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.65	5.65	0.86999	.	0.000000	0.41396	D	0.000891	T	0.75671	0.3881	M	0.87682	2.9	0.32532	N	0.534844	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.999	T	0.81079	-0.1095	9	0.87932	D	0	.	16.1657	0.81754	1.0:0.0:0.0:0.0	.	4778;6866;7044;6864;4452	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	4452;7044;6866;4778;6540;4669;6755	ENSP00000244364:L4452S;ENSP00000359790:L7044S;ENSP00000359805:L6866S;ENSP00000400883:L4778S;ENSP00000393645:L6540S;ENSP00000359824:L4669S;ENSP00000354508:L6755S	ENSP00000244364:L4452S	L	-	2	0	DST	56455618	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	9.307000	0.96226	2.276000	0.75962	0.528000	0.53228	TTG		0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56347659	A	G	56347659	3	3	461	1	0	0	0	0	1	0	0	0	4785	131	5	3	2220	3	DST	6	56347659	Missense_Mutation	SNP	A	TCGA-BQ-5885-01A-11D-1589-08	24840617	56347659	114767408	36	25143											
SLC35D3	340146	hgsc.bcm.edu	37	6	137243696	137243696	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr6:137243696G>C	ENST00000331858.4	+	1	295	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	44					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCTGACCCTGGTGCAGTGCCT	0.677																																																0													41	37	38					6																	137243696		2202	4298	6500	SO:0001583	missense	340146				CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"Solute carriers"	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.130G>C	chr6.hg19:g.137243696G>C	ENSP00000333591:p.Val44Leu		B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	hg19	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	G	6.901	0.535701	0.13188	.	.	ENSG00000182747	ENST00000331858	T	0.50277	0.75	4.53	4.53	0.55603	.	0.154256	0.43110	D	0.000610	T	0.09642	0.0237	N	0.04880	-0.145	0.43608	D	0.995972	B	0.09022	0.002	B	0.06405	0.002	T	0.16928	-1.0386	10	0.02654	T	1	-17.4101	13.2101	0.59819	0.0:0.213:0.787:0.0	.	44	Q5M8T2	S35D3_HUMAN	L	44	ENSP00000333591:V44L	ENSP00000333591:V44L	V	+	1	0	SLC35D3	137285389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.017000	0.57167	2.074000	0.62210	0.491000	0.48974	GTG		0.677	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		C	137243696	G	C	137243696	3	2	461	1	0	0	0	0	1	0	0	0	14589	1261	44	4	132	4	SLC35D3	6	137243696	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	80896037	137243696	33871371	37	25144											
TAX1BP1	8887	hgsc.bcm.edu	37	7	27856087	27856087	+	Silent	SNP	T	T	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:27856087T>C	ENST00000396319.2	+	14	1972	c.1884T>C	c.(1882-1884)aaT>aaC	p.N628N	TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000409980.1_Silent_p.N652N	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	628					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CATTGTCAAATGCACAACCAG	0.378																																																0													160	156	157					7																	27856087		2203	4300	6503	SO:0001819	synonymous_variant	8887			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1884T>C	chr7.hg19:g.27856087T>C			B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	hg19	CCDS5415.1																																																																																				0.378	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		C	27856087	T	C	27856087	2	2	461	1	0	0	0	0	0	0	0	1	15599	1461	51	3		3	TAX1BP1	7	27856087	Silent	SNP	T	TCGA-BQ-5885-01A-11D-1589-08		27856087	131282576	38	25145											
ZNF679	168417	hgsc.bcm.edu	37	7	63721262	63721262	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:63721262G>A	ENST00000421025.1	+	4	486	c.217G>A	c.(217-219)Gag>Aag	p.E73K	ZNF679_ENST00000255746.4_Missense_Mutation_p.E73K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GCAAAATAAAGAGCCTTGGAA	0.378																																																0													121	109	113					7																	63721262		692	1591	2283	SO:0001583	missense	168417			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.217G>A	chr7.hg19:g.63721262G>A	ENSP00000416809:p.Glu73Lys			Missense_Mutation	SNP	ENST00000421025.1	hg19	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	G	5.786	0.329447	0.10956	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.07800	3.16;3.16	0.235	0.235	0.15431	Krueppel-associated box (2);	.	.	.	.	T	0.07818	0.0196	L	0.47716	1.5	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.32241	-0.9914	8	0.46703	T	0.11	.	.	.	.	.	73	Q8IYX0	ZN679_HUMAN	K	73	ENSP00000416809:E73K;ENSP00000255746:E73K	ENSP00000255746:E73K	E	+	1	0	ZNF679	63358697	0.303000	0.24463	0.027000	0.17364	0.031000	0.12232	1.500000	0.35682	0.308000	0.22923	0.313000	0.20887	GAG		0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		A	63721262	G	A	63721262	3	1	461	1	0	0	0	0	1	0	0	0	18091	943	33	2	227	2	ZNF679	7	63721262	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	35865175	63721262	95417401	39	25146											
DMTF1	9988	hgsc.bcm.edu	37	7	86802963	86802966	+	Splice_Site	DEL	AAGG	AAGG	-	rs138809401		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	AAGG	AAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:86802963_86802966delAAGG	ENST00000394703.5	+	8	1003_1005	c.440_442delAAGG	c.(439-444)aaaggg>agg	p.KG147fs	DMTF1_ENST00000411766.2_Splice_Site_p.KG106fs|DMTF1_ENST00000331242.7_Splice_Site_p.KG147fs|DMTF1_ENST00000413276.2_Splice_Site_p.KG147fs|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000394702.3_Splice_Site_p.KG147fs|DMTF1_ENST00000432937.2_Splice_Site_p.KG59fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	147	Interaction with CCND2. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CTGACTAATAAAGGTAAGATAACA	0.382																																																0																																										SO:0001630	splice_region_variant	9988			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.442+1AAGG>-	chr7.hg19:g.86802963_86802966delAAGG			B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Del	DEL	ENST00000394703.5	hg19	CCDS5601.1																																																																																				0.382	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145	Frame_Shift_Del	-	86802966	AAGG	-	86802963	8	5	461	1	0	1	0	1	0	0	1	0	4594	14	1	0	454	0	DMTF1	7	86802963	Splice_Site	DEL	AAGG	TCGA-BQ-5885-01A-11D-1589-08	23081701	86802963	72335700	40	25147											
AKAP9	10142	hgsc.bcm.edu	37	7	91631868	91631868	+	Silent	SNP	A	A	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:91631868A>G	ENST00000359028.2	+	9	2898	c.2673A>G	c.(2671-2673)gaA>gaG	p.E891E	AKAP9_ENST00000356239.3_Silent_p.E879E|AKAP9_ENST00000358100.2_Silent_p.E891E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	891	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGATTTAGAAGACAGTAAAA	0.294			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													45	50	48					7																	91631868		2199	4289	6488	SO:0001819	synonymous_variant	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2673A>G	chr7.hg19:g.91631868A>G			A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	hg19																																																																																					0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		G	91631868	A	G	91631868	2	3	461	1	0	0	0	0	0	0	0	1	459	69	3	3		3	AKAP9	7	91631868	Silent	SNP	A	TCGA-BQ-5885-01A-11D-1589-08	4828905	91631868	67506795	41	25148											
PEX1	5189	hgsc.bcm.edu	37	7	92119227	92119227	+	Splice_Site	SNP	T	T	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:92119227T>C	ENST00000248633.4	-	22	3534		c.e22-2		PEX1_ENST00000438045.1_Splice_Site|AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000428214.1_Splice_Site	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1						ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTGTGAGCTCTGCATGGTAAA	0.393																																																0													48	44	45					7																	92119227		2203	4300	6503	SO:0001630	splice_region_variant	5189			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3439-2A>G	chr7.hg19:g.92119227T>C			A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Splice_Site	SNP	ENST00000248633.4	hg19	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023778	0.54683	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2209	0.65826	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PEX1	91957163	1.000000	0.71417	0.995000	0.50966	0.747000	0.42532	6.048000	0.71046	2.230000	0.72887	0.528000	0.53228	.		0.393	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466	Intron	C	92119227	T	C	92119227	5	2	461	1	0	0	0	0	0	0	1	0	11737	1594	55	3	426	3	PEX1	7	92119227	Splice_Site	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	487359	92119227	67019436	42	25149											
SLC7A2	6542	hgsc.bcm.edu	37	8	17401959	17401959	+	Splice_Site	SNP	G	G	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:17401959G>T	ENST00000494857.1	+	4	594		c.e4-1		SLC7A2_ENST00000004531.10_Splice_Site|SLC7A2_ENST00000398090.3_Splice_Site|SLC7A2_ENST00000522656.1_Splice_Site|SLC7A2_ENST00000470360.1_Splice_Site	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GTTTTGGGAAGGTACATCAAG	0.388																																																0													120	121	121					8																	17401959		2203	4300	6503	SO:0001630	splice_region_variant	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.377-1G>T	chr8.hg19:g.17401959G>T			B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Splice_Site	SNP	ENST00000494857.1	hg19	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437083	0.62955	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8219	0.96602	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC7A2	17446335	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	9.823000	0.99369	2.767000	0.95098	0.563000	0.77884	.		0.388	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046	Intron	T	17401959	G	T	17401959	5	4	461	1	0	0	0	0	0	0	1	0	14703	1014	35	4	506	4	SLC7A2	8	17401959	Splice_Site	SNP	G	TCGA-BQ-5885-01A-11D-1589-08		17401959	128962063	43	25150											
ADAMDEC1	27299	hgsc.bcm.edu	37	8	24256052	24256052	+	Frame_Shift_Del	DEL	C	C	-	rs2291576	byFrequency	TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:24256052delC	ENST00000256412.4	+	8	970	c.750delC	c.(748-750)aacfs	p.N250fs	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Frame_Shift_Del_p.N171fs|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Frame_Shift_Del_p.N171fs	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	250	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		ATGTGATGAACCTACTCAATG	0.338																																					Ovarian(147;687 1849 3699 25981 31337)											0													190	182	185					8																	24256052		2203	4300	6503	SO:0001589	frameshift_variant	27299			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.750delC	chr8.hg19:g.24256052delC	ENSP00000256412:p.Asn250fs		B7ZAK5	Frame_Shift_Del	DEL	ENST00000256412.4	hg19	CCDS6044.1																																																																																				0.338	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		-	24256052	C	-	24256052	7	5	461	1	0	1	0	1	0	0	0	0	254	506	18	0	780	0	ADAMDEC1	8	24256052	Frame_Shift_Del	DEL	C	TCGA-BQ-5885-01A-11D-1589-08	6854093	24256052	122107970	44	25151											
EBF2	64641	hgsc.bcm.edu	37	8	25715868	25715868	+	Silent	SNP	G	G	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:25715868G>A	ENST00000520164.1	-	14	2032	c.1495C>T	c.(1495-1497)Cta>Tta	p.L499L	EBF2_ENST00000535548.1_Silent_p.L230L|EBF2_ENST00000408929.3_Silent_p.L351L	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	499	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GAGCCATTTAGAAATCCTGGT	0.483																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											0													125	125	125					8																	25715868		1950	4140	6090	SO:0001819	synonymous_variant	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1495C>T	chr8.hg19:g.25715868G>A			A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	hg19	CCDS43726.1																																																																																				0.483	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		A	25715868	G	A	25715868	2	1	461	1	0	0	0	0	0	0	0	1	4883	933	33	2		2	EBF2	8	25715868	Silent	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	1459816	25715868	120648154	45	25152											
SYBU	55638	hgsc.bcm.edu	37	8	110587763	110587763	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:110587763delT	ENST00000422135.1	-	8	1879	c.1364delA	c.(1363-1365)gacfs	p.D455fs	SYBU_ENST00000399066.3_Frame_Shift_Del_p.D452fs|SYBU_ENST00000440310.1_Frame_Shift_Del_p.D455fs|SYBU_ENST00000528647.1_Frame_Shift_Del_p.D454fs|SYBU_ENST00000528331.1_Frame_Shift_Del_p.D336fs|SYBU_ENST00000533895.1_Frame_Shift_Del_p.D454fs|SYBU_ENST00000276646.9_Frame_Shift_Del_p.D455fs|SYBU_ENST00000529175.1_Frame_Shift_Del_p.D249fs|SYBU_ENST00000419099.1_Frame_Shift_Del_p.D454fs|SYBU_ENST00000529690.1_Frame_Shift_Del_p.D325fs|SYBU_ENST00000533065.1_Frame_Shift_Del_p.D336fs|SYBU_ENST00000533171.1_Frame_Shift_Del_p.D455fs|SYBU_ENST00000433638.1_Frame_Shift_Del_p.D455fs|SYBU_ENST00000424158.2_Frame_Shift_Del_p.D460fs|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000532779.1_Frame_Shift_Del_p.D387fs|SYBU_ENST00000408889.3_Frame_Shift_Del_p.D336fs|SYBU_ENST00000408908.2_Frame_Shift_Del_p.D455fs|SYBU_ENST00000446070.2_Frame_Shift_Del_p.D454fs	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	455					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AAGCTCCAGGTCACCAGATTC	0.577																																																0													133	137	136					8																	110587763		2102	4215	6317	SO:0001589	frameshift_variant	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1364delA	chr8.hg19:g.110587763delT	ENSP00000407118:p.Asp455fs		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Frame_Shift_Del	DEL	ENST00000422135.1	hg19	CCDS47912.1																																																																																				0.577	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		-	110587763	T	-	110587763	7	5	461	1	0	1	0	1	0	0	0	0	15432	1667	58	0	631	0	SYBU	8	110587763	Frame_Shift_Del	DEL	T	TCGA-BQ-5885-01A-11D-1589-08	84871895	110587763	35776259	46	25153											
PHF20L1	51105	hgsc.bcm.edu	37	8	133854952	133854952	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:133854952G>C	ENST00000395386.2	+	19	2879	c.2580G>C	c.(2578-2580)gaG>gaC	p.E860D	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.E835D|PHF20L1_ENST00000220847.7_Missense_Mutation_p.E247D|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	860							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TAACAAGTGAGCATAGCTATC	0.398																																																0													74	70	71					8																	133854952		1849	4099	5948	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2580G>C	chr8.hg19:g.133854952G>C	ENSP00000378784:p.Glu860Asp		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	hg19	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803425	0.70682	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.54479	0.61;0.57	5.11	1.23	0.21249	.	0.365573	0.21339	U	0.076161	T	0.66655	0.2811	M	0.76574	2.34	0.33710	D	0.6156	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.967	T	0.71424	-0.4597	10	0.39692	T	0.17	-4.2073	9.4695	0.38833	0.2956:0.0:0.7044:0.0	.	835;860	F8W9L8;A8MW92	.;P20L1_HUMAN	D	860;247;835	ENSP00000378784:E860D;ENSP00000378788:E835D	ENSP00000220847:E247D	E	+	3	2	PHF20L1	133924134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.184000	0.32053	0.261000	0.21753	0.650000	0.86243	GAG		0.398	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		C	133854952	G	C	133854952	3	2	461	1	0	0	0	0	1	0	0	0	11834	962	34	4	2746	4	PHF20L1	8	133854952	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	23267189	133854952	12509070	47	25154											
EPPK1	83481	hgsc.bcm.edu	37	8	144944250	144944250	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:144944250G>T	ENST00000525985.1	-	2	3243	c.3172C>A	c.(3172-3174)Ctc>Atc	p.L1058I				P58107	EPIPL_HUMAN	epiplakin 1	1058						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCATGGGGAGGTGGTGGTGG	0.622																																																0													33	38	36					8																	144944250		2118	4239	6357	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3172C>A	chr8.hg19:g.144944250G>T	ENSP00000436337:p.Leu1058Ile		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.43	1.936941	0.34189	.	.	ENSG00000227184	ENST00000525985	T	0.79247	-1.25	4.4	2.49	0.30216	.	.	.	.	.	T	0.61813	0.2377	L	0.31207	0.915	0.25590	N	0.98671	B	0.27700	0.186	B	0.24701	0.055	T	0.46034	-0.9220	9	0.19590	T	0.45	.	7.0089	0.24851	0.0:0.32:0.5041:0.1759	.	1058	E9PPU0	.	I	1058	ENSP00000436337:L1058I	ENSP00000436337:L1058I	L	-	1	0	EPPK1	145016238	0.002000	0.14202	0.982000	0.44146	0.140000	0.21249	-0.269000	0.08596	2.242000	0.73789	0.563000	0.77884	CTC		0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144944250	G	T	144944250	3	4	461	1	0	0	0	0	1	0	0	0	5192	1000	35	4	4094	4	EPPK1	8	144944250	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	11089298	144944250	1419772	48	25155											
ARHGAP39	80728	hgsc.bcm.edu	37	8	145806407	145806407	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:145806407T>C	ENST00000276826.5	-	2	536	c.335A>G	c.(334-336)aAc>aGc	p.N112S	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N112S|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N112S			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	112					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGACTCCGTGTTCTGCTTCAG	0.706																																																0													14	15	15					8																	145806407		2190	4288	6478	SO:0001583	missense	80728				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.335A>G	chr8.hg19:g.145806407T>C	ENSP00000276826:p.Asn112Ser		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	hg19		.	.	.	.	.	.	.	.	.	.	T	14.91	2.676795	0.47886	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.14022	2.54;2.54;2.54	5.4	4.25	0.50352	.	0.385486	0.28865	N	0.013896	T	0.10680	0.0261	N	0.20574	0.59	0.33264	D	0.560137	B;B	0.28512	0.111;0.214	B;B	0.37239	0.074;0.244	T	0.17930	-1.0353	10	0.37606	T	0.19	-3.2953	7.9013	0.29736	0.0:0.0945:0.0:0.9055	.	112;112	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	S	112	ENSP00000276826:N112S;ENSP00000366522:N112S;ENSP00000445075:N112S	ENSP00000276826:N112S	N	-	2	0	ARHGAP39	145777215	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	0.946000	0.29069	0.882000	0.36016	0.445000	0.29226	AAC		0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			C	145806407	T	C	145806407	3	2	461	1	0	0	0	0	1	0	0	0	884	1725	60	3	3049	3	ARHGAP39	8	145806407	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	862157	145806407	557615	49	25156											
SMC5	23137	hgsc.bcm.edu	37	9	72901129	72901129	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr9:72901129A>T	ENST00000361138.5	+	8	1053	c.995A>T	c.(994-996)aAg>aTg	p.K332M		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	332					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ACAGATATTAAGGAGGCATCT	0.353																																																0													65	74	71					9																	72901129		2203	4300	6503	SO:0001583	missense	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.995A>T	chr9.hg19:g.72901129A>T	ENSP00000354957:p.Lys332Met		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	hg19	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.450498	0.63290	.	.	ENSG00000198887	ENST00000361138	T	0.20598	2.06	5.34	2.93	0.34026	RecF/RecN/SMC (1);	0.052632	0.64402	D	0.000001	T	0.37999	0.1024	M	0.66939	2.045	0.54753	D	0.999983	D	0.89917	1.0	D	0.81914	0.995	T	0.10382	-1.0632	10	0.54805	T	0.06	-18.9526	6.4737	0.22024	0.7458:0.0:0.1261:0.1282	.	332	Q8IY18	SMC5_HUMAN	M	332	ENSP00000354957:K332M	ENSP00000354957:K332M	K	+	2	0	SMC5	72090949	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.657000	0.37366	0.949000	0.37715	0.402000	0.26972	AAG		0.353	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		T	72901129	A	T	72901129	3	4	461	1	0	0	0	0	1	0	0	0	14792	72	3	5	1025	5	SMC5	9	72901129	Missense_Mutation	SNP	A	TCGA-BQ-5885-01A-11D-1589-08		72901129	68312302	50	25157											
PAPPA	5069	hgsc.bcm.edu	37	9	118997553	118997553	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr9:118997553C>G	ENST00000328252.3	+	7	2738	c.2369C>G	c.(2368-2370)cCc>cGc	p.P790R	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	790					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTCCTCTACCCCTTGGTCCCT	0.567																																																0													116	93	101					9																	118997553		2203	4300	6503	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2369C>G	chr9.hg19:g.118997553C>G	ENSP00000330658:p.Pro790Arg		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	hg19	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446744	0.63178	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.01947	4.54	6.04	6.04	0.98038	.	0.148253	0.64402	D	0.000007	T	0.14184	0.0343	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.921	T	0.00005	-1.2530	10	0.87932	D	0	-8.2519	20.5948	0.99439	0.0:1.0:0.0:0.0	.	234;790	E7EMD3;Q13219	.;PAPP1_HUMAN	R	790;234	ENSP00000330658:P790R	ENSP00000330658:P790R	P	+	2	0	PAPPA	118037374	1.000000	0.71417	0.819000	0.32651	0.753000	0.42808	7.779000	0.85648	2.873000	0.98535	0.563000	0.77884	CCC		0.567	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		G	118997553	C	G	118997553	3	3	461	1	0	0	0	0	1	0	0	0	11434	623	22	4	2395	4	PAPPA	9	118997553	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	46096424	118997553	22215878	51	25158											
JMJD1C	221037	hgsc.bcm.edu	37	10	64960365	64960365	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:64960365delA	ENST00000399262.2	-	11	5365	c.5147delT	c.(5146-5148)ttafs	p.L1716fs	JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_Frame_Shift_Del_p.L1534fs|JMJD1C_ENST00000402544.1_Frame_Shift_Del_p.L1497fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1716					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTCATCCTGTAAAAAGGATTC	0.413																																																0													83	76	78					10																	64960365		1855	4105	5960	SO:0001589	frameshift_variant	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5147delT	chr10.hg19:g.64960365delA	ENSP00000382204:p.Leu1716fs		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Frame_Shift_Del	DEL	ENST00000399262.2	hg19	CCDS41532.1																																																																																				0.413	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		-	64960365	A	-	64960365	7	5	461	1	0	1	0	1	0	0	0	0	7952	372	13	0	2539	0	JMJD1C	10	64960365	Frame_Shift_Del	DEL	A	TCGA-BQ-5885-01A-11D-1589-08		64960365	70574382	52	25159											
USP54	159195	hgsc.bcm.edu	37	10	75294429	75294429	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:75294429G>A	ENST00000339859.4	-	11	1344	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	USP54_ENST00000408019.1_Missense_Mutation_p.S415F|USP54_ENST00000428547.1_Missense_Mutation_p.S265F|USP54_ENST00000319786.7_Missense_Mutation_p.S415F|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	415					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAATCAGAAGAGAAGTGACT	0.498																																					Colon(195;880 2046 8854 25025 38456)											0													134	130	131					10																	75294429		1925	4124	6049	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1244C>T	chr10.hg19:g.75294429G>A	ENSP00000345216:p.Ser415Phe		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	hg19	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915589	0.92178	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T	0.38240	1.25;1.25;1.15	5.54	5.54	0.83059	.	0.801566	0.09945	U	0.735488	T	0.56411	0.1983	L	0.38175	1.15	0.46774	D	0.999197	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.996;0.996;0.997	T	0.54029	-0.8354	10	0.72032	D	0.01	-5.8858	19.5024	0.95100	0.0:0.0:1.0:0.0	.	415;415;415	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	F	415;415;265;415	ENSP00000345216:S415F;ENSP00000386080:S415F;ENSP00000408714:S265F	ENSP00000326547:S415F	S	-	2	0	USP54	74964435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.017000	0.93651	2.607000	0.88179	0.655000	0.94253	TCT		0.498	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		A	75294429	G	A	75294429	3	1	461	1	0	0	0	0	1	0	0	0	17090	942	33	2	3862	2	USP54	10	75294429	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	10334064	75294429	60240318	53	25160											
GBF1	8729	hgsc.bcm.edu	37	10	104130513	104130513	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:104130513C>A	ENST00000369983.3	+	29	3813	c.3553C>A	c.(3553-3555)Ctc>Atc	p.L1185I		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1185					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TCTATACCACCTCTGTGTTCA	0.552																																																0													225	181	196					10																	104130513		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3553C>A	chr10.hg19:g.104130513C>A	ENSP00000359000:p.Leu1185Ile		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	hg19	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541954	0.65198	.	.	ENSG00000107862	ENST00000369983	T	0.10573	2.86	5.36	2.53	0.30540	.	0.000000	0.85682	D	0.000000	T	0.15609	0.0376	L	0.29908	0.895	0.53005	D	0.999965	D;D;D	0.63880	0.985;0.968;0.993	P;P;D	0.70016	0.614;0.53;0.967	T	0.09862	-1.0655	10	0.12766	T	0.61	-10.2271	9.4682	0.38826	0.0:0.7169:0.0:0.2831	.	1185;1185;1185	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	I	1185	ENSP00000359000:L1185I	ENSP00000359000:L1185I	L	+	1	0	GBF1	104120503	0.999000	0.42202	0.991000	0.47740	0.997000	0.91878	2.530000	0.45641	0.402000	0.25451	0.655000	0.94253	CTC		0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			A	104130513	C	A	104130513	3	1	461	1	0	0	0	0	1	0	0	0	6273	681	24	4	3663	4	GBF1	10	104130513	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	28836084	104130513	31404234	54	25161											
CNNM2	54805	hgsc.bcm.edu	37	10	104679308	104679308	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:104679308G>T	ENST00000369878.4	+	1	1259	c.1071G>T	c.(1069-1071)gaG>gaT	p.E357D	CNNM2_ENST00000433628.2_Missense_Mutation_p.E357D|CNNM2_ENST00000369875.3_Missense_Mutation_p.E357D	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	357	DUF21.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCTTCGGAGAGATCGTGCCCC	0.607																																																0													76	75	75					10																	104679308		2203	4300	6503	SO:0001583	missense	54805			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1071G>T	chr10.hg19:g.104679308G>T	ENSP00000358894:p.Glu357Asp		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	hg19	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594054	0.46214	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;D;D	0.94576	-3.46;-3.46;-3.46	4.32	2.42	0.29668	Domain of unknown function DUF21 (1);	0.112531	0.64402	D	0.000007	D	0.97642	0.9227	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	0.985;0.988;1.0	D;D;D	0.91635	0.972;0.984;0.999	D	0.96198	0.9143	10	0.87932	D	0	.	8.1171	0.30950	0.2718:0.0:0.7282:0.0	.	357;357;357	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	D	357	ENSP00000392875:E357D;ENSP00000358891:E357D;ENSP00000358894:E357D	ENSP00000286899:E357D	E	+	3	2	CNNM2	104669298	1.000000	0.71417	0.998000	0.56505	0.690000	0.40134	2.046000	0.41260	0.262000	0.21774	0.561000	0.74099	GAG		0.607	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		T	104679308	G	T	104679308	3	4	461	1	0	0	0	0	1	0	0	0	3615	933	33	4	1073	4	CNNM2	10	104679308	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	548795	104679308	30855439	55	25162											
SORCS1	114815	hgsc.bcm.edu	37	10	108412294	108412294	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:108412294G>A	ENST00000263054.6	-	18	2328	c.2321C>T	c.(2320-2322)tCc>tTc	p.S774F	SORCS1_ENST00000344440.6_Missense_Mutation_p.S774F|SORCS1_ENST00000369698.1_Missense_Mutation_p.S309F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	774					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCAATTATTGGAAACCACCTT	0.468																																																0													112	106	108					10																	108412294		2203	4300	6503	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2321C>T	chr10.hg19:g.108412294G>A	ENSP00000263054:p.Ser774Phe		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	hg19	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482881	0.84747	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.67523	-0.27;-0.27;-0.27	5.74	5.74	0.90152	VPS10 (1);PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	M	0.75777	2.31	0.45979	D	0.998792	D;D;D;D;D	0.58620	0.972;0.983;0.983;0.972;0.983	P;D;D;P;D	0.65684	0.825;0.937;0.915;0.866;0.937	T	0.80571	-0.1323	9	.	.	.	-16.8758	19.9145	0.97053	0.0:0.0:1.0:0.0	.	774;774;774;774;774	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	F	309;774;774	ENSP00000358712:S309F;ENSP00000263054:S774F;ENSP00000345964:S774F	.	S	-	2	0	SORCS1	108402284	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.448000	0.80631	2.709000	0.92574	0.655000	0.94253	TCC		0.468	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		A	108412294	G	A	108412294	3	1	461	1	0	0	0	0	1	0	0	0	14936	1174	41	2	1455	2	SORCS1	10	108412294	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	3732986	108412294	27122453	56	25163											
MMP21	118856	hgsc.bcm.edu	37	10	127455494	127455494	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:127455494T>G	ENST00000368808.3	-	7	1446	c.1447A>C	c.(1447-1449)Aat>Cat	p.N483H		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	483					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	GGATAAGAATTAAGTACTCGA	0.303																																																0													67	70	69					10																	127455494		2203	4300	6503	SO:0001583	missense	118856			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1447A>C	chr10.hg19:g.127455494T>G	ENSP00000357798:p.Asn483His		Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	hg19	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271658	0.59649	.	.	ENSG00000154485	ENST00000368808	T	0.02446	4.29	5.95	-4.11	0.03928	Hemopexin/matrixin (2);	0.904543	0.09772	N	0.757825	T	0.02688	0.0081	N	0.19112	0.55	0.09310	N	1	P	0.40282	0.711	P	0.47528	0.549	T	0.38607	-0.9653	10	0.56958	D	0.05	-10.6851	3.1826	0.06589	0.1141:0.3438:0.3474:0.1948	.	483	Q8N119	MMP21_HUMAN	H	483	ENSP00000357798:N483H	ENSP00000357798:N483H	N	-	1	0	MMP21	127445484	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-0.140000	0.10342	-0.647000	0.05444	-0.274000	0.10170	AAT		0.303	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			G	127455494	T	G	127455494	3	3	461	1	0	0	0	0	1	0	0	0	9662	1754	61	5	266	5	MMP21	10	127455494	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	19043200	127455494	8079253	57	25164											
PHRF1	57661	hgsc.bcm.edu	37	11	601639	601639	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:601639T>C	ENST00000264555.5	+	10	1218	c.1090T>C	c.(1090-1092)Tca>Cca	p.S364P	PHRF1_ENST00000416188.2_Missense_Mutation_p.S364P|PHRF1_ENST00000533464.1_Missense_Mutation_p.S360P|PHRF1_ENST00000413872.2_Missense_Mutation_p.S363P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	364	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AAGTAAGAGCTCAGCGACAAG	0.507																																																0													85	94	91					11																	601639		1969	4145	6114	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1090T>C	chr11.hg19:g.601639T>C	ENSP00000264555:p.Ser364Pro		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	hg19		.	.	.	.	.	.	.	.	.	.	T	13.18	2.160816	0.38119	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.37	0.796	0.18648	.	0.956972	0.08463	N	0.942121	T	0.29652	0.0740	L	0.35414	1.06	0.09310	N	1	B;B;B;B	0.11235	0.002;0.004;0.004;0.002	B;B;B;B	0.14578	0.005;0.011;0.011;0.005	T	0.26155	-1.0111	10	0.33940	T	0.23	-5.4809	5.8681	0.18789	0.0:0.1006:0.4218:0.4776	.	360;363;364;364	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	P	364;363;364;360	ENSP00000264555:S364P;ENSP00000388589:S363P;ENSP00000410626:S364P;ENSP00000431870:S360P	ENSP00000264555:S364P	S	+	1	0	PHRF1	591639	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.583000	0.23849	-0.016000	0.14127	-1.252000	0.01501	TCA		0.507	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		C	601639	T	C	601639	3	2	461	1	0	0	0	0	1	0	0	0	11863	1551	54	3	1124	3	PHRF1	11	601639	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08		601639	134404877	58	25165											
FAU	740	hgsc.bcm.edu	37	11	64888258	64888258	+	5'Flank	SNP	C	C	A	rs3202210		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:64888258C>A	ENST00000279242.2	+	0	0				MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000279259.3_Nonsense_Mutation_p.E81*|FAU_ENST00000529639.1_Missense_Mutation_p.K99N|MRPL49_ENST00000534078.1_5'Flank|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000531743.1_Missense_Mutation_p.K99N|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_Missense_Mutation_p.K99N|FAU_ENST00000525297.1_Missense_Mutation_p.K64N	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						TCTTCTTCTTCTTCTTCTCCT	0.557																																																0													82	88	86					11																	64888258		2201	4297	6498	SO:0001631	upstream_gene_variant	2197				CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"Mitochondrial ribosomal proteins / large subunits"	1176	protein-coding gene	gene with protein product	"neighbor of FAU", "next to FAU"	606866	"chromosome 11 open reading frame 4"	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		chr11.hg19:g.64888258C>A	Exception_encountered		B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	hg19	CCDS8096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.082357|4.082357	0.76528|0.76528	.|.	.|.	ENSG00000149806|ENSG00000149806	ENST00000279259|ENST00000529639;ENST00000531743;ENST00000525297;ENST00000527548;ENST00000526555	.|T;T;T;T;T	.|0.50277	.|0.75;0.75;0.75;0.75;0.75	5.7|5.7	4.79|4.79	0.61399|0.61399	.|.	.|0.045214	.|0.85682	.|D	.|0.000000	.|T	.|0.72503	.|0.3468	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79541	.|-0.1761	.|8	0.25106|0.72032	T|D	0.35|0.01	.|.	12.7196|12.7196	0.57134|0.57134	0.0:0.9196:0.0:0.0804|0.0:0.9196:0.0:0.0804	.|.	.|.	.|.	.|.	X|N	81|99;99;64;99;99	.|ENSP00000435370:K99N;ENSP00000431822:K99N;ENSP00000436110:K64N;ENSP00000434440:K99N;ENSP00000433139:K99N	ENSP00000279259:E81X|ENSP00000436110:K64N	E|K	-|-	1|3	0|2	FAU|FAU	64644834|64644834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	2.548000|2.548000	0.45794|0.45794	1.411000|1.411000	0.46957|0.46957	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.557	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		A	64888258	C	A	64888258	1	1	461	0	1	0	0	0	0	0	0	0	5696	912	32	4		4	FAU	11	64888258	5'Flank	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	64286619	64888258	70118258	59	25166											
DPP3	10072	hgsc.bcm.edu	37	11	66260242	66260242	+	Silent	SNP	G	G	A	rs200674271		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:66260242G>A	ENST00000360510.2	+	10	1109	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	DPP3_ENST00000531863.1_Silent_p.A368A|DPP3_ENST00000530165.1_Silent_p.A318A|DPP3_ENST00000541961.1_Silent_p.A348A|DPP3_ENST00000532677.1_Silent_p.A367A|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000453114.1_Silent_p.A348A			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	348					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGCTGGTGGCGAGCGCAGAGC	0.602																																																0													95	89	91					11																	66260242		2200	4295	6495	SO:0001819	synonymous_variant	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1044G>A	chr11.hg19:g.66260242G>A			B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	hg19	CCDS8141.1																																																																																				0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			A	66260242	G	A	66260242	2	1	461	1	0	0	0	0	0	0	0	1	4730	1045	37	1		1	DPP3	11	66260242	Silent	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	1371984	66260242	68746274	60	25167											
DGAT2	84649	hgsc.bcm.edu	37	11	75509461	75509461	+	Silent	SNP	C	C	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:75509461C>T	ENST00000228027.7	+	7	1259	c.999C>T	c.(997-999)ccC>ccT	p.P333P	RP11-535A19.1_ENST00000534354.1_RNA|DGAT2_ENST00000376262.3_Silent_p.P290P	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	333					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					ACTCCAAGCCCATCACCACTG	0.552																																					Melanoma(35;811 1096 8354 24009 39363)											0													48	43	45					11																	75509461		2200	4293	6493	SO:0001819	synonymous_variant	84649				CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"diacylglycerol O-acyltransferase homolog 2 (mouse)"			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.999C>T	chr11.hg19:g.75509461C>T			A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Silent	SNP	ENST00000228027.7	hg19	CCDS31642.1																																																																																				0.552	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		T	75509461	C	T	75509461	2	4	461	1	0	0	0	0	0	0	0	1	4460	581	21	2		2	DGAT2	11	75509461	Silent	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	9249219	75509461	59497055	61	25168											
CNTN5	53942	hgsc.bcm.edu	37	11	99690367	99690367	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:99690367A>C	ENST00000524871.1	+	4	438	c.148A>C	c.(148-150)Acc>Ccc	p.T50P	CNTN5_ENST00000527185.1_Missense_Mutation_p.T50P|CNTN5_ENST00000528682.1_Missense_Mutation_p.T50P|CNTN5_ENST00000279463.3_Missense_Mutation_p.T50P|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	50					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGTTCCAAAACCAGACCACG	0.423																																																0													115	117	116					11																	99690367		1906	4138	6044	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.148A>C	chr11.hg19:g.99690367A>C	ENSP00000435637:p.Thr50Pro		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	hg19	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642177	0.29157	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.56941	0.43;0.5;0.5;0.5	5.06	-2.19	0.07015	.	1.005590	0.08006	N	0.989611	T	0.28699	0.0711	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23583	-1.0184	10	0.62326	D	0.03	.	1.2696	0.02018	0.5048:0.1176:0.1378:0.2399	.	50;50	E9PKE8;O94779	.;CNTN5_HUMAN	P	50	ENSP00000433575:T50P;ENSP00000436185:T50P;ENSP00000435637:T50P;ENSP00000279463:T50P	ENSP00000279463:T50P	T	+	1	0	CNTN5	99195577	0.217000	0.23597	0.017000	0.16124	0.764000	0.43329	0.669000	0.25142	-0.145000	0.11294	0.528000	0.53228	ACC		0.423	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		C	99690367	A	C	99690367	3	2	461	1	0	0	0	0	1	0	0	0	3646	43	2	5	154	5	CNTN5	11	99690367	Missense_Mutation	SNP	A	TCGA-BQ-5885-01A-11D-1589-08	24180906	99690367	35316149	62	25169											
BCL9L	283149	hgsc.bcm.edu	37	11	118771686	118771686	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:118771686A>C	ENST00000334801.3	-	6	3730	c.2766T>G	c.(2764-2766)aaT>aaG	p.N922K	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	922	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGCCCATCTGATTAATACTGA	0.632																																																0													62	60	61					11																	118771686		2200	4295	6495	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2766T>G	chr11.hg19:g.118771686A>C	ENSP00000335320:p.Asn922Lys		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	hg19	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.982733	0.34942	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.66280	-0.2	4.48	-0.626	0.11544	.	0.114359	0.38663	N	0.001612	T	0.39009	0.1062	N	0.19112	0.55	0.45129	D	0.998148	P;P	0.44734	0.728;0.842	B;B	0.39217	0.294;0.236	T	0.14090	-1.0485	10	0.54805	T	0.06	-7.3556	6.4799	0.22057	0.2778:0.1784:0.5439:0.0	.	917;922	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	K	922;885;215;922;922	ENSP00000335320:N922K	ENSP00000335320:N922K	N	-	3	2	BCL9L	118276896	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.052000	0.30429	-0.032000	0.13758	0.533000	0.62120	AAT		0.632	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		C	118771686	A	C	118771686	3	2	461	1	0	0	0	0	1	0	0	0	1382	330	12	5	1745	5	BCL9L	11	118771686	Missense_Mutation	SNP	A	TCGA-BQ-5885-01A-11D-1589-08	19081319	118771686	16234830	63	25170											
OR8B8	26493	hgsc.bcm.edu	37	11	124310919	124310919	+	Silent	SNP	C	C	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:124310919C>T	ENST00000328064.2	-	1	135	c.63G>A	c.(61-63)ccG>ccA	p.P21P		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	21					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)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCTGGACTCCCGGTTGGTCAG	0.502																																																0													62	61	61					11																	124310919		2201	4299	6500	SO:0001819	synonymous_variant	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.63G>A	chr11.hg19:g.124310919C>T			A1L446|Q96RC8	Silent	SNP	ENST00000328064.2	hg19	CCDS8446.1																																																																																				0.502	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		T	124310919	C	T	124310919	2	4	461	1	0	0	0	0	0	0	0	1	11232	639	23	1		1	OR8B8	11	124310919	Silent	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	5539233	124310919	10695597	64	25171											
C3AR1	719	hgsc.bcm.edu	37	12	8212439	8212439	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:8212439C>T	ENST00000307637.4	-	2	546	c.343G>A	c.(343-345)Gcc>Acc	p.A115T		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	115					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGCTAATGGCAGTAAGCAGG	0.517																																																0													186	151	163					12																	8212439		2203	4300	6503	SO:0001583	missense	719			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.343G>A	chr12.hg19:g.8212439C>T	ENSP00000302079:p.Ala115Thr		O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	hg19	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059489	0.55325	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	T;T	0.44482	0.92;0.92	5.64	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.379197	0.23680	N	0.045625	T	0.39835	0.1093	L	0.54965	1.715	0.40028	D	0.975498	P	0.41475	0.751	B	0.40375	0.327	T	0.26643	-1.0097	10	0.33141	T	0.24	.	12.4036	0.55426	0.0:0.9187:0.0:0.0813	.	115	Q16581	C3AR_HUMAN	T	115	ENSP00000302079:A115T;ENSP00000444500:A115T	ENSP00000302079:A115T	A	-	1	0	C3AR1	8103706	0.993000	0.37304	0.990000	0.47175	0.984000	0.73092	3.119000	0.50422	1.388000	0.46506	0.655000	0.94253	GCC		0.517	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			T	8212439	C	T	8212439	3	4	461	1	0	0	0	0	1	0	0	0	2207	710	25	2	1109	2	C3AR1	12	8212439	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08		8212439	125639456	65	25172											
DENND5B	160518	hgsc.bcm.edu	37	12	31586129	31586130	+	In_Frame_Ins	INS	-	-	GGCGAA			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:31586129_31586130insGGCGAA	ENST00000389082.5	-	8	2329_2330	c.2065_2066insTTCGCC	c.(2065-2067)cag>cTTCGCCag	p.688_689insLR	DENND5B_ENST00000536562.1_In_Frame_Ins_p.723_724insLR|DENND5B_ENST00000306833.6_In_Frame_Ins_p.723_724insLR|DENND5B_ENST00000354285.4_In_Frame_Ins_p.710_711insLR	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	688					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTCAGAATGCTGGCGAAGGCGT	0.48																																																0																																										SO:0001652	inframe_insertion	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2060_2065dupTTCGCC	chr12.hg19:g.31586130_31586135dupGGCGAA	ENSP00000373734:p.Leu687_Arg688dup		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	In_Frame_Ins	INS	ENST00000389082.5	hg19	CCDS44857.1																																																																																				0.48	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		GGCGAA	31586130	-	GGCGAA	31586129	7	5	461	1	0	1	1	0	0	0	0	0	4439	1580	55	0	1814	0	DENND5B	12	31586129	In_Frame_Ins	INS	-	TCGA-BQ-5885-01A-11D-1589-08	23373690	31586129	102265766	66	25173											
ATF7	11016	hgsc.bcm.edu	37	12	53931334	53931334	+	Silent	SNP	A	A	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:53931334A>T	ENST00000548446.2	-	5	412	c.300T>A	c.(298-300)gcT>gcA	p.A100A	ATF7_ENST00000456903.4_Silent_p.A89A|ATF7_ENST00000420353.2_Silent_p.A89A|RP11-793H13.10_ENST00000591834.1_Silent_p.A89A|ATF7_ENST00000415113.1_Silent_p.A89A|ATF7_ENST00000328463.7_Silent_p.A100A			P17544	ATF7_HUMAN	activating transcription factor 7	100	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GCCCAGCAGCAGCCTGTTGTG	0.443																																																0													68	70	69					12																	53931334		1903	4133	6036	SO:0001819	synonymous_variant	11016			X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.300T>A	chr12.hg19:g.53931334A>T			A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Silent	SNP	ENST00000548446.2	hg19																																																																																					0.443	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		T	53931334	A	T	53931334	2	4	461	1	0	0	0	0	0	0	0	1	1086	175	7	5		5	ATF7	12	53931334	Silent	SNP	A	TCGA-BQ-5885-01A-11D-1589-08	22345205	53931334	79920561	67	25174											
SRGAP1	57522	hgsc.bcm.edu	37	12	64521913	64521913	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:64521913C>A	ENST00000355086.3	+	21	3337	c.2813C>A	c.(2812-2814)tCc>tAc	p.S938Y	SRGAP1_ENST00000543397.1_Missense_Mutation_p.S875Y|SRGAP1_ENST00000357825.3_Missense_Mutation_p.S915Y	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	938					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.S938C(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTAGAAGGTCCACGTCATCA	0.532																																																1	Substitution - Missense(1)	ovary(1)											53	49	50					12																	64521913		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2813C>A	chr12.hg19:g.64521913C>A	ENSP00000347198:p.Ser938Tyr		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	hg19	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781515	0.90282	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.21191	3.02;2.6;2.02	5.65	5.65	0.86999	.	0.000000	0.34986	U	0.003527	T	0.42449	0.1203	L	0.58101	1.795	0.80722	D	1	D;D	0.60160	0.987;0.98	P;P	0.61592	0.851;0.891	T	0.02553	-1.1142	9	.	.	.	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	938;875	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	Y	938;915;875	ENSP00000347198:S938Y;ENSP00000350480:S915Y;ENSP00000437948:S875Y	.	S	+	2	0	SRGAP1	62808180	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	7.695000	0.84257	2.827000	0.97445	0.650000	0.86243	TCC		0.532	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			A	64521913	C	A	64521913	3	1	461	1	0	0	0	0	1	0	0	0	15150	855	30	4	2895	4	SRGAP1	12	64521913	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	10590579	64521913	69329982	68	25175											
EID3	493861	hgsc.bcm.edu	37	12	104698219	104698219	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:104698219T>A	ENST00000527879.1	+	1	703	c.507T>A	c.(505-507)caT>caA	p.H169Q	TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000354940.6_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGACATTCCATTTTGTTTTTG	0.418																																																0													188	184	185					12																	104698219		1919	4136	6055	SO:0001583	missense	493861			BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.507T>A	chr12.hg19:g.104698219T>A	ENSP00000435619:p.His169Gln			Missense_Mutation	SNP	ENST00000527879.1	hg19	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228683	0.39399	.	.	ENSG00000255150	ENST00000527879	T	0.43688	0.94	4.94	0.971	0.19698	.	.	.	.	.	T	0.53546	0.1803	M	0.72118	2.19	0.30872	N	0.732351	D	0.76494	0.999	D	0.77557	0.99	T	0.54139	-0.8338	9	0.10636	T	0.68	.	7.1994	0.25873	0.0:0.6158:0.0:0.3842	.	169	Q8N140	EID3_HUMAN	Q	169	ENSP00000435619:H169Q	ENSP00000435619:H169Q	H	+	3	2	EID3	103222349	0.586000	0.26782	0.839000	0.33178	0.046000	0.14306	-0.290000	0.08354	0.077000	0.16863	-0.375000	0.07067	CAT		0.418	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		A	104698219	T	A	104698219	3	1	461	1	0	0	0	0	1	0	0	0	4991	1490	52	5	509	5	EID3	12	104698219	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08	40176306	104698219	29153676	69	25176											
ARHGEF7	8874	hgsc.bcm.edu	37	13	111885553	111885553	+	Splice_Site	SNP	G	G	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr13:111885553G>A	ENST00000375741.2	+	7	985	c.735G>A	c.(733-735)gaG>gaA	p.E245E	ARHGEF7_ENST00000375736.4_Splice_Site_p.E67E|ARHGEF7_ENST00000370623.3_Splice_Site_p.E152E|ARHGEF7_ENST00000375723.1_Splice_Site_p.E67E|ARHGEF7_ENST00000218789.5_Splice_Site_p.E67E|ARHGEF7_ENST00000375739.2_Splice_Site_p.E195E|ARHGEF7_ENST00000375737.5_Splice_Site_p.E142E|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000317133.5_Splice_Site_p.E224E|ARHGEF7_ENST00000426073.2_Splice_Site_p.E67E	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	245					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCATTTCAGAGAAGCCTGTGT	0.428																																																0													102	103	103					13																	111885553		2203	4300	6503	SO:0001630	splice_region_variant	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.734-1G>A	chr13.hg19:g.111885553G>A			B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	hg19	CCDS45068.1																																																																																				0.428	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511	Silent	A	111885553	G	A	111885553	5	1	461	1	0	0	0	0	0	0	1	0	911	956	33	2	761	2	ARHGEF7	13	111885553	Splice_Site	SNP	G	TCGA-BQ-5885-01A-11D-1589-08		111885553	3284325	70	25177											
SMG1	23049	hgsc.bcm.edu	37	16	18841597	18841597	+	Missense_Mutation	SNP	C	C	T	rs371226711		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr16:18841597C>T	ENST00000446231.2	-	52	9299	c.8887G>A	c.(8887-8889)Gca>Aca	p.A2963T	SMG1_ENST00000389467.3_Missense_Mutation_p.A2963T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2963					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCATCGAATGCTACCAAAAGC	0.393																																																0													78	73	74					16																	18841597		1886	4116	6002	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8887G>A	chr16.hg19:g.18841597C>T	ENSP00000402515:p.Ala2963Thr		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	hg19	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524254	0.85600	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01165	5.24;5.24	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000002	T	0.03783	0.0107	N	0.19112	0.55	0.54753	D	0.999988	D	0.63880	0.993	D	0.74674	0.984	T	0.61382	-0.7074	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	2963	Q96Q15	SMG1_HUMAN	T	2963	ENSP00000402515:A2963T;ENSP00000374118:A2963T	ENSP00000374118:A2963T	A	-	1	0	SMG1	18749098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.594000	0.82698	2.885000	0.99019	0.655000	0.94253	GCA		0.393	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		T	18841597	C	T	18841597	3	4	461	1	0	0	0	0	1	0	0	0	14801	797	28	2	2146	2	SMG1	16	18841597	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08		18841597	71513156	71	25178											
NKD1	85407	hgsc.bcm.edu	37	16	50667463	50667463	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr16:50667463C>G	ENST00000268459.3	+	10	1408	c.1184C>G	c.(1183-1185)gCc>gGc	p.A395G		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	395					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CCCTCCCTAGCCCCCCTCGGG	0.721																																																0													9	12	11					16																	50667463		2160	4247	6407	SO:0001583	missense	85407			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1184C>G	chr16.hg19:g.50667463C>G	ENSP00000268459:p.Ala395Gly		B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	hg19	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	9.960	1.222465	0.22457	.	.	ENSG00000140807	ENST00000268459	T	0.65364	-0.15	4.05	4.05	0.47172	.	0.262951	0.37178	N	0.002203	T	0.57681	0.2070	L	0.51422	1.61	0.09310	N	0.999994	P	0.37330	0.59	B	0.40410	0.328	T	0.50792	-0.8786	10	0.21014	T	0.42	-8.4212	14.5612	0.68136	0.0:1.0:0.0:0.0	.	395	Q969G9	NKD1_HUMAN	G	395	ENSP00000268459:A395G	ENSP00000268459:A395G	A	+	2	0	NKD1	49224964	0.004000	0.15560	0.909000	0.35828	0.607000	0.37147	1.081000	0.30791	2.092000	0.63282	0.305000	0.20034	GCC		0.721	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			G	50667463	C	G	50667463	3	3	461	1	0	0	0	0	1	0	0	0	10443	739	26	4	1222	4	NKD1	16	50667463	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	31825866	50667463	39687290	72	25179											
TRPV3	162514	hgsc.bcm.edu	37	17	3458126	3458126	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr17:3458126C>T	ENST00000576742.1	-	2	340	c.19G>A	c.(19-21)Gag>Aag	p.E7K	TRPV3_ENST00000301365.4_Missense_Mutation_p.E7K|TRPV3_ENST00000572519.1_Missense_Mutation_p.E7K	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	7					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGCACCATCTCCTTGGGGTGG	0.622																																																0													39	40	39					17																	3458126		2203	4300	6503	SO:0001583	missense	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.19G>A	chr17.hg19:g.3458126C>T	ENSP00000461518:p.Glu7Lys		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	hg19	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812560	0.70912	.	.	ENSG00000167723	ENST00000381913;ENST00000301365	T	0.42131	0.98	4.79	4.79	0.61399	.	0.098779	0.43747	D	0.000525	T	0.33323	0.0859	N	0.24115	0.695	0.35360	D	0.788099	P;P;P	0.40534	0.59;0.598;0.72	B;B;B	0.41202	0.111;0.19;0.35	T	0.51988	-0.8635	10	0.87932	D	0	-16.4794	13.7071	0.62646	0.0:1.0:0.0:0.0	.	7;7;7	Q8NET8-3;Q8NET8;Q8NET8-2	.;TRPV3_HUMAN;.	K	7	ENSP00000301365:E7K	ENSP00000301365:E7K	E	-	1	0	TRPV3	3404876	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.073000	0.57570	2.399000	0.81585	0.462000	0.41574	GAG		0.622	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		T	3458126	C	T	3458126	3	4	461	1	0	0	0	0	1	0	0	0	16602	864	30	2	2421	2	TRPV3	17	3458126	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08		3458126	77737084	73	25180											
COX10	1352	hgsc.bcm.edu	37	17	13977738	13977738	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr17:13977738A>C	ENST00000261643.3	+	2	219	c.142A>C	c.(142-144)Att>Ctt	p.I48L	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.I48L	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	48					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TAAGCAGTGGATTACATTTCA	0.408																																																0													187	183	185					17																	13977738		2203	4300	6503	SO:0001583	missense	1352			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.142A>C	chr17.hg19:g.13977738A>C	ENSP00000261643:p.Ile48Leu		B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	hg19	CCDS11166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.45|12.45	1.940770|1.940770	0.34283|0.34283	.|.	.|.	ENSG00000006695|ENSG00000006695	ENST00000429152|ENST00000261643	.|T	.|0.37915	.|1.17	5.03|5.03	-3.34|-3.34	0.04943|0.04943	.|.	.|0.618238	.|0.17063	.|N	.|0.188488	T|T	0.24699|0.24699	0.0599|0.0599	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.02037|0.02037	-1.1225|-1.1225	5|10	.|0.45353	.|T	.|0.12	-18.4175|-18.4175	8.3088|8.3088	0.32058|0.32058	0.3998:0.1258:0.4744:0.0|0.3998:0.1258:0.4744:0.0	.|.	.|48	.|Q12887	.|COX10_HUMAN	A|L	8|48	.|ENSP00000261643:I48L	.|ENSP00000261643:I48L	D|I	+|+	2|1	0|0	COX10|COX10	13918463|13918463	0.992000|0.992000	0.36948|0.36948	0.409000|0.409000	0.26459|0.26459	0.912000|0.912000	0.54170|0.54170	0.470000|0.470000	0.22084|0.22084	-0.785000|-0.785000	0.04522|0.04522	0.528000|0.528000	0.53228|0.53228	GAT|ATT		0.408	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		C	13977738	A	C	13977738	3	2	461	1	0	0	0	0	1	0	0	0	3764	333	12	5	148	5	COX10	17	13977738	Missense_Mutation	SNP	A	TCGA-BQ-5885-01A-11D-1589-08	10519612	13977738	67217472	74	25181											
TEX19	400629	hgsc.bcm.edu	37	17	80320426	80320426	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr17:80320426C>A	ENST00000333437.4	+	2	710	c.400C>A	c.(400-402)Ctg>Atg	p.L134M		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	134					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GCCCCTGGGCCTGGGCCTTGA	0.597																																																0													68	68	68					17																	80320426		2203	4300	6503	SO:0001583	missense	400629			BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.400C>A	chr17.hg19:g.80320426C>A	ENSP00000331500:p.Leu134Met			Missense_Mutation	SNP	ENST00000333437.4	hg19	CCDS11809.1	.	.	.	.	.	.	.	.	.	.	C	8.539	0.872893	0.17322	.	.	ENSG00000182459	ENST00000333437	.	.	.	3.79	-0.753	0.11068	.	.	.	.	.	T	0.40297	0.1111	L	0.34521	1.04	0.09310	N	0.999999	D	0.76494	0.999	D	0.68943	0.961	T	0.23583	-1.0184	8	0.87932	D	0	-8.5728	4.373	0.11256	0.0:0.4173:0.3653:0.2174	.	134	Q8NA77	TEX19_HUMAN	M	134	.	ENSP00000331500:L134M	L	+	1	2	TEX19	77913715	0.093000	0.21703	0.021000	0.16686	0.007000	0.05969	0.763000	0.26517	-0.070000	0.12908	-0.251000	0.11542	CTG		0.597	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256331.1	NM_207459		A	80320426	C	A	80320426	3	1	461	1	0	0	0	0	1	0	0	0	15785	680	24	4	402	4	TEX19	17	80320426	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	66342688	80320426	874784	75	25182											
PSMA8	143471	hgsc.bcm.edu	37	18	23731852	23731852	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr18:23731852A>G	ENST00000308268.6	+	3	367	c.278A>G	c.(277-279)aAc>aGc	p.N93S	PSMA8_ENST00000415576.2_Missense_Mutation_p.N87S|PSMA8_ENST00000343848.6_Missense_Mutation_p.N49S	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	93					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)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GTAGTAATAAACAGAGCCCGT	0.378																																																0													104	103	104					18																	23731852		2203	4300	6503	SO:0001583	missense	143471			BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"Proteasome (prosome, macropain) subunits"	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.278A>G	chr18.hg19:g.23731852A>G	ENSP00000311121:p.Asn93Ser		B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	ENST00000308268.6	hg19	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518879	0.44763	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664;ENST00000536423	T;T;T	0.21361	2.01;2.01;2.01	5.34	2.96	0.34315	.	0.096815	0.64402	N	0.000002	T	0.20251	0.0487	L	0.60012	1.86	0.44579	D	0.997548	B;B;B;B	0.30193	0.052;0.041;0.214;0.272	B;B;B;B	0.33750	0.019;0.083;0.079;0.169	T	0.03306	-1.1050	10	0.42905	T	0.14	-9.0093	6.0378	0.19718	0.7464:0.1656:0.088:0.0	.	61;93;87;49	F5GY34;Q8TAA3;Q8TAA3-5;Q8TAA3-2	.;PSA7L_HUMAN;.;.	S	93;87;49;61;49	ENSP00000311121:N93S;ENSP00000409284:N87S;ENSP00000345584:N49S	ENSP00000311121:N93S	N	+	2	0	PSMA8	21985850	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	5.075000	0.64407	0.479000	0.27511	0.533000	0.62120	AAC		0.378	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		G	23731852	A	G	23731852	3	3	461	1	0	0	0	0	1	0	0	0	12678	43	2	3	288	3	PSMA8	18	23731852	Missense_Mutation	SNP	A	TCGA-BQ-5885-01A-11D-1589-08		23731852	54345396	76	25183											
ZNF57	126295	hgsc.bcm.edu	37	19	2917763	2917763	+	Missense_Mutation	SNP	C	C	T	rs549800352	byFrequency	TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr19:2917763C>T	ENST00000306908.5	+	4	1292	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	ZNF57_ENST00000523428.1_Missense_Mutation_p.H350Y|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTTAGAGAACATGTGAGAAT	0.448																																					NSCLC(150;910 1964 4303 10464 26498)											0													90	82	84					19																	2917763		2203	4300	6503	SO:0001583	missense	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1144C>T	chr19.hg19:g.2917763C>T	ENSP00000303696:p.His382Tyr		Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	hg19	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084453	0.36758	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	D;D	0.86769	-2.17;-2.17	2.25	2.25	0.28309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94693	0.8288	H	0.96175	3.78	0.09310	N	0.999999	D	0.89917	1.0	D	0.69479	0.964	D	0.86081	0.1544	9	0.87932	D	0	.	10.1544	0.42814	0.0:1.0:0.0:0.0	.	382	Q68EA5	ZNF57_HUMAN	Y	382;384;350	ENSP00000303696:H382Y;ENSP00000430223:H350Y	ENSP00000303696:H382Y	H	+	1	0	ZNF57	2868763	0.980000	0.34600	0.002000	0.10522	0.002000	0.02628	2.918000	0.48829	1.259000	0.44117	0.511000	0.50034	CAT		0.448	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		T	2917763	C	T	2917763	3	4	461	1	0	0	0	0	1	0	0	0	18006	478	17	2	1158	2	ZNF57	19	2917763	Missense_Mutation	SNP	C	TCGA-BQ-5885-01A-11D-1589-08		2917763	56211220	77	25184											
ZNF846	162993	hgsc.bcm.edu	37	19	9868191	9868191	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr19:9868191A>G	ENST00000397902.2	-	6	1975	c.1562T>C	c.(1561-1563)cTt>cCt	p.L521P	ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						ATGTTTAGCAAGTGCTGAAGA	0.368																																																0													150	158	155					19																	9868191		2050	4222	6272	SO:0001583	missense	162993			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1562T>C	chr19.hg19:g.9868191A>G	ENSP00000380999:p.Leu521Pro		A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	hg19	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	18.50	3.637264	0.67130	.	.	ENSG00000196605	ENST00000397902	T	0.14266	2.52	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41119	0.1145	M	0.91717	3.235	0.21579	N	0.999631	D	0.89917	1.0	D	0.91635	0.999	T	0.09465	-1.0673	9	0.87932	D	0	.	7.5297	0.27677	1.0:0.0:0.0:0.0	.	521	Q147U1	ZN846_HUMAN	P	521	ENSP00000380999:L521P	ENSP00000380999:L521P	L	-	2	0	ZNF846	9729191	0.712000	0.27916	0.008000	0.14137	0.897000	0.52465	5.067000	0.64357	1.067000	0.40740	0.374000	0.22700	CTT		0.368	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		G	9868191	A	G	9868191	3	3	461	1	0	0	0	0	1	0	0	0	18197	72	3	3	43	3	ZNF846	19	9868191	Missense_Mutation	SNP	A	TCGA-BQ-5885-01A-11D-1589-08	6950428	9868191	49260792	78	25185											
GATAD2A	54815	hgsc.bcm.edu	37	19	19603133	19603133	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr19:19603133G>T	ENST00000360315.3	+	3	600	c.288G>T	c.(286-288)agG>agT	p.R96S	GATAD2A_ENST00000429563.2_Intron|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000473184.1_3'UTR|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R96S|GATAD2A_ENST00000404158.1_Missense_Mutation_p.R96S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.R96S	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	96					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AGTCCGAGAGGAGACCCCCCT	0.617																																																0													48	48	48					19																	19603133		1568	3582	5150	SO:0001583	missense	54815			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.288G>T	chr19.hg19:g.19603133G>T	ENSP00000353463:p.Arg96Ser		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	hg19	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640385	0.47153	.	.	ENSG00000167491	ENST00000417582;ENST00000360315;ENST00000252577;ENST00000457895;ENST00000432704;ENST00000404158;ENST00000429242;ENST00000358713	T;T;T;T;T;T;T	0.56444	0.49;0.98;1.01;0.46;0.53;0.55;0.98	5.61	5.61	0.85477	.	0.219648	0.47093	D	0.000252	T	0.48519	0.1504	L	0.38175	1.15	0.80722	D	1	B;B	0.25351	0.124;0.124	B;B	0.27500	0.08;0.074	T	0.47446	-0.9117	10	0.87932	D	0	-15.9509	18.201	0.89838	0.0:0.0:1.0:0.0	.	115;96	B5MC40;Q86YP4	.;P66A_HUMAN	S	96;96;96;96;96;115;96;96	ENSP00000403703:R96S;ENSP00000353463:R96S;ENSP00000252577:R96S;ENSP00000404212:R96S;ENSP00000390495:R96S;ENSP00000414252:R96S;ENSP00000351552:R96S	ENSP00000252577:R96S	R	+	3	2	GATAD2A	19464133	1.000000	0.71417	0.997000	0.53966	0.494000	0.33585	1.747000	0.38298	2.642000	0.89623	0.561000	0.74099	AGG		0.617	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		T	19603133	G	T	19603133	3	4	461	1	0	0	0	0	1	0	0	0	6262	1165	41	4	294	4	GATAD2A	19	19603133	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	9734942	19603133	39525850	79	25186											
PAK4	10298	hgsc.bcm.edu	37	19	39667267	39667267	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr19:39667267G>T	ENST00000593690.1	+	9	1824	c.1397G>T	c.(1396-1398)aGc>aTc	p.S466I	PAK4_ENST00000599386.1_Missense_Mutation_p.S313I|PAK4_ENST00000358301.3_Missense_Mutation_p.S466I|PAK4_ENST00000599470.1_Missense_Mutation_p.S313I|PAK4_ENST00000435673.2_Missense_Mutation_p.S466I|PAK4_ENST00000360442.3_Missense_Mutation_p.S466I|PAK4_ENST00000321944.4_Missense_Mutation_p.S376I	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCCCAGGTGAGCAAGGAAGTG	0.672																																																0													134	138	136					19																	39667267		2203	4300	6503	SO:0001583	missense	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1397G>T	chr19.hg19:g.39667267G>T	ENSP00000469413:p.Ser466Ile		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	hg19	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310361	0.81358	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	T;T;T	0.65549	-0.16;-0.16;-0.16	4.87	3.79	0.43588	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.174438	0.51477	D	0.000092	T	0.62816	0.2459	L	0.35249	1.045	0.49213	D	0.999762	P;P;D	0.54964	0.927;0.946;0.969	P;P;D	0.63703	0.479;0.807;0.917	T	0.64462	-0.6402	10	0.87932	D	0	.	5.7648	0.18221	0.2083:0.0:0.7917:0.0	.	376;313;466	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	I	466;313;270;222;466;466	ENSP00000351049:S466I;ENSP00000392753:S466I;ENSP00000353625:S466I	ENSP00000326864:S313I	S	+	2	0	PAK4	44359107	0.904000	0.30761	1.000000	0.80357	0.989000	0.77384	1.132000	0.31418	2.525000	0.85131	0.655000	0.94253	AGC		0.672	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			T	39667267	G	T	39667267	3	4	461	1	0	0	0	0	1	0	0	0	11405	971	34	4	1419	4	PAK4	19	39667267	Missense_Mutation	SNP	G	TCGA-BQ-5885-01A-11D-1589-08	20064134	39667267	19461716	80	25187											
SIRPB1	10326	hgsc.bcm.edu	37	20	1551504	1551504	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr20:1551504T>A	ENST00000381605.4	-	4	1095	c.1031A>T	c.(1030-1032)tAt>tTt	p.Y344F	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	344	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTCCAGGGCATAGCTTTTGCT	0.507																																																0													191	178	183					20																	1551504		2203	4300	6503	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.1031A>T	chr20.hg19:g.1551504T>A	ENSP00000371018:p.Tyr344Phe		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	hg19	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	0.112	-1.137007	0.01742	.	.	ENSG00000101307	ENST00000381605	T	0.02015	4.5	1.96	-3.91	0.04168	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.801060	0.02558	N	0.096430	T	0.01156	0.0038	N	0.04959	-0.14	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44907	-0.9297	10	0.10636	T	0.68	.	3.3438	0.07128	0.5823:0.1453:0.0:0.2723	.	344	O00241	SIRB1_HUMAN	F	344	ENSP00000371018:Y344F	ENSP00000371018:Y344F	Y	-	2	0	SIRPB1	1499504	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.905000	0.04075	-1.342000	0.02222	-0.728000	0.03583	TAT		0.507	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		A	1551504	T	A	1551504	3	1	461	1	0	0	0	0	1	0	0	0	14339	1406	49	5	173	5	SIRPB1	20	1551504	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08		1551504	61474016	81	25188											
SF3A1	10291	hgsc.bcm.edu	37	22	30737847	30737847	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr22:30737847T>A	ENST00000215793.8	-	7	1059	c.905A>T	c.(904-906)gAg>gTg	p.E302V	SF3A1_ENST00000439242.1_Missense_Mutation_p.E237V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	302					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CCCCAGCTCCTCTGGCGTGGT	0.547																																																0													60	57	58					22																	30737847		2203	4300	6503	SO:0001583	missense	10291			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.905A>T	chr22.hg19:g.30737847T>A	ENSP00000215793:p.Glu302Val		E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	hg19	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058118	0.55325	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	T;T	0.34667	1.37;1.35	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.73598	2.24	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.61987	-0.6949	10	0.48119	T	0.1	-28.8415	16.4504	0.83984	0.0:0.0:0.0:1.0	.	302	Q15459	SF3A1_HUMAN	V	237;302;199	ENSP00000390336:E237V;ENSP00000215793:E302V	ENSP00000215793:E302V	E	-	2	0	SF3A1	29067847	1.000000	0.71417	0.996000	0.52242	0.359000	0.29487	7.958000	0.87877	2.288000	0.76882	0.533000	0.62120	GAG		0.547	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		A	30737847	T	A	30737847	3	1	461	1	0	0	0	0	1	0	0	0	14152	1551	54	5	1516	5	SF3A1	22	30737847	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08		30737847	20566719	82	25189											
APOBEC3G	60489	hgsc.bcm.edu	37	22	39482535	39482535	+	Silent	SNP	C	C	G	rs138907659		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr22:39482535C>G	ENST00000407997.3	+	6	1344	c.987C>G	c.(985-987)gcC>gcG	p.A329A	APOBEC3G_ENST00000452957.2_Silent_p.A329A	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	329	Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GCACCCTGGCCGAGGCTGGGG	0.522																																																0													101	112	108					22																	39482535		2203	4300	6503	SO:0001819	synonymous_variant	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.987C>G	chr22.hg19:g.39482535C>G			B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Silent	SNP	ENST00000407997.3	hg19	CCDS13984.1																																																																																				0.522	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		G	39482535	C	G	39482535	2	3	461	1	0	0	0	0	0	0	0	1	794	639	23	4		4	APOBEC3G	22	39482535	Silent	SNP	C	TCGA-BQ-5885-01A-11D-1589-08	8744688	39482535	11822031	83	25190											
AGTR2	186	hgsc.bcm.edu	37	X	115303624	115303624	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chrX:115303624T>G	ENST00000371906.4	+	3	281	c.91T>G	c.(91-93)Tct>Gct	p.S31A		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	31					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	CAACAATGAGTCTACCTTGAA	0.383																																																0													125	107	113					X																	115303624		2203	4300	6503	SO:0001583	missense	186			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.91T>G	chrX.hg19:g.115303624T>G	ENSP00000360973:p.Ser31Ala		B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	hg19	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	T	7.505	0.653477	0.14580	.	.	ENSG00000180772	ENST00000371906	T	0.37752	1.18	4.14	4.14	0.48551	.	0.844018	0.10647	N	0.650365	T	0.24353	0.0590	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.13019	-1.0525	10	0.39692	T	0.17	-5.3221	8.5784	0.33612	0.0:0.0:0.0:1.0	.	31	P50052	AGTR2_HUMAN	A	31	ENSP00000360973:S31A	ENSP00000360973:S31A	S	+	1	0	AGTR2	115217652	0.012000	0.17670	0.098000	0.21074	0.802000	0.45316	1.925000	0.40074	1.537000	0.49254	0.412000	0.27726	TCT		0.383	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		G	115303624	T	G	115303624	3	3	461	1	0	0	0	0	1	0	0	0	402	1667	58	5	93	5	AGTR2	23	115303624	Missense_Mutation	SNP	T	TCGA-BQ-5885-01A-11D-1589-08		115303624	39966936	84	25191											
SLC6A17	388662	hgsc.bcm.edu	37	1	110709565	110709565	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr1:110709565G>A	ENST00000331565.4	+	2	499	c.14G>A	c.(13-15)aGc>aAc	p.S5N	RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	5					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CCGAAGAACAGCAAAGTGACC	0.577																																																0													54	49	51					1																	110709565		2203	4300	6503	SO:0001583	missense	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.14G>A	chr1.hg19:g.110709565G>A	ENSP00000330199:p.Ser5Asn		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	hg19	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201454	0.79015	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75938	-0.98	4.31	4.31	0.51392	.	0.091130	0.64402	D	0.000001	T	0.71921	0.3397	M	0.67397	2.05	0.44834	D	0.997843	P	0.42203	0.773	P	0.46208	0.507	T	0.76203	-0.3045	10	0.51188	T	0.08	.	16.9598	0.86269	0.0:0.0:1.0:0.0	.	5	Q9H1V8	S6A17_HUMAN	N	5	ENSP00000330199:S5N	ENSP00000330199:S5N	S	+	2	0	SLC6A17	110511088	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.350000	0.59392	2.221000	0.72209	0.563000	0.77884	AGC		0.577	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		A	110709565	G	A	110709565	3	1	462	1	0	0	0	0	1	0	0	0	14686	971	34	2	16	2	SLC6A17	1	110709565	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08		110709565	138541056	1	25192											
ELF3	1999	hgsc.bcm.edu	37	1	201984378	201984378	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr1:201984378G>C	ENST00000359651.3	+	8	4235	c.1043G>C	c.(1042-1044)cGg>cCg	p.R348P	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R348P|ELF3_ENST00000367284.5_Missense_Mutation_p.R348P					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GTGGATGGCCGGCGACTCGTC	0.557																																																0													84	86	85					1																	201984378		2203	4300	6503	SO:0001583	missense	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1043G>C	chr1.hg19:g.201984378G>C	ENSP00000352673:p.Arg348Pro			Missense_Mutation	SNP	ENST00000359651.3	hg19	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878405	0.91740	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	T;T;T	0.15372	2.43;2.43;2.43	4.61	4.61	0.57282	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.64402	D	0.000001	T	0.48241	0.1489	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57877	-0.7735	10	0.87932	D	0	.	16.4352	0.83873	0.0:0.0:1.0:0.0	.	348	P78545	ELF3_HUMAN	P	348;348;348;325	ENSP00000352673:R348P;ENSP00000356253:R348P;ENSP00000356252:R348P	ENSP00000311348:R325P	R	+	2	0	ELF3	200251001	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.616000	0.98359	2.421000	0.82119	0.555000	0.69702	CGG		0.557	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		C	201984378	G	C	201984378	3	2	462	1	0	0	0	0	1	0	0	0	5057	1116	39	4	1073	4	ELF3	1	201984378	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08	91274813	201984378	47266243	2	25193											
NID1	4811	hgsc.bcm.edu	37	1	236208870	236208870	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr1:236208870G>C	ENST00000264187.6	-	3	721	c.639C>G	c.(637-639)aaC>aaG	p.N213K	NID1_ENST00000366595.3_Missense_Mutation_p.N213K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	213	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CAGGAACTTGGTTGTTTTCCT	0.448																																																0													111	104	106					1																	236208870		2203	4300	6503	SO:0001583	missense	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.639C>G	chr1.hg19:g.236208870G>C	ENSP00000264187:p.Asn213Lys		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	hg19	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	3.031	-0.199616	0.06219	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.71461	-0.57;-0.57	5.81	0.342	0.15996	Nidogen, extracellular domain (3);	1.058890	0.07141	N	0.847269	T	0.57344	0.2047	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.46205	-0.9208	10	0.54805	T	0.06	.	6.9876	0.24737	0.0648:0.096:0.2443:0.5949	.	213;213	P14543-2;P14543	.;NID1_HUMAN	K	213	ENSP00000264187:N213K;ENSP00000355554:N213K	ENSP00000264187:N213K	N	-	3	2	NID1	234275493	0.001000	0.12720	0.035000	0.18076	0.061000	0.15899	-0.029000	0.12329	-0.172000	0.10779	0.561000	0.74099	AAC		0.448	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		C	236208870	G	C	236208870	3	2	462	1	0	0	0	0	1	0	0	0	10416	1252	44	4	3176	4	NID1	1	236208870	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08	34224492	236208870	13041751	3	25194											
FAM161A	84140	hgsc.bcm.edu	37	2	62066806	62066806	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr2:62066806G>A	ENST00000405894.3	-	3	1434	c.1333C>T	c.(1333-1335)Cac>Tac	p.H445Y	FAM161A_ENST00000404929.1_Missense_Mutation_p.H445Y	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	445					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGAGACTTGTGTTCTGAGAGG	0.408																																																0													122	110	114					2																	62066806		1874	4103	5977	SO:0001583	missense	84140				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1333C>T	chr2.hg19:g.62066806G>A	ENSP00000385893:p.His445Tyr		B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	hg19	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	G	7.735	0.700095	0.15106	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.21734	1.99;1.99	5.19	-0.0571	0.13803	.	0.977729	0.08450	N	0.943967	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.003;0.021	B;B	0.17098	0.013;0.017	T	0.36841	-0.9731	10	0.28530	T	0.3	-13.5655	2.5423	0.04729	0.1324:0.2247:0.4122:0.2308	.	445;445	Q3B820;Q3B820-3	F161A_HUMAN;.	Y	445	ENSP00000385158:H445Y;ENSP00000385893:H445Y	ENSP00000385158:H445Y	H	-	1	0	FAM161A	61920310	0.001000	0.12720	0.001000	0.08648	0.044000	0.14063	0.602000	0.24134	-0.235000	0.09767	-0.185000	0.12909	CAC		0.408	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		A	62066806	G	A	62066806	3	1	462	1	0	0	0	0	1	0	0	0	5474	1377	48	2	665	2	FAM161A	2	62066806	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08		62066806	181132567	4	25195											
LMAN2L	81562	hgsc.bcm.edu	37	2	97373520	97373520	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr2:97373520T>C	ENST00000264963.4	-	7	857	c.835A>G	c.(835-837)Acc>Gcc	p.T279A	LMAN2L_ENST00000534882.1_Missense_Mutation_p.T134A|FER1L5_ENST00000457909.1_RNA|LMAN2L_ENST00000377079.4_Missense_Mutation_p.T290A|LMAN2L_ENST00000426463.2_Missense_Mutation_p.T145A|LMAN2L_ENST00000537039.1_Missense_Mutation_p.T141A	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	279					ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TCTTCTGGGGTTCTCTCCACT	0.468																																																0													111	111	111					2																	97373520		2203	4300	6503	SO:0001583	missense	81562			AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.835A>G	chr2.hg19:g.97373520T>C	ENSP00000264963:p.Thr279Ala		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	hg19	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544490	0.65198	.	.	ENSG00000114988	ENST00000264963;ENST00000377079;ENST00000426463;ENST00000537039;ENST00000534882	T;T;T;T;T	0.77358	0.91;0.9;-1.09;-1.04;-1.08	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase, subgroup (1);	0.095537	0.64402	D	0.000001	T	0.69106	0.3074	L	0.46157	1.445	0.51482	D	0.999927	B;B;B;B;B	0.26081	0.141;0.031;0.141;0.004;0.065	B;B;B;B;B	0.20955	0.021;0.023;0.021;0.002;0.032	T	0.64846	-0.6311	10	0.09590	T	0.72	.	14.8095	0.69982	0.0:0.0:0.0:1.0	.	134;152;145;290;279	B4DVH1;B4DI83;B4DSH3;Q9H0V9-2;Q9H0V9	.;.;.;.;LMA2L_HUMAN	A	279;290;145;141;134	ENSP00000264963:T279A;ENSP00000366280:T290A;ENSP00000396391:T145A;ENSP00000441701:T141A;ENSP00000438501:T134A	ENSP00000264963:T279A	T	-	1	0	LMAN2L	96737247	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.930000	0.70104	2.129000	0.65627	0.533000	0.62120	ACC		0.468	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		C	97373520	T	C	97373520	3	2	462	1	0	0	0	0	1	0	0	0	8841	1725	60	3	219	3	LMAN2L	2	97373520	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	35306714	97373520	145825853	5	25196											
LRP2	4036	hgsc.bcm.edu	37	2	170072853	170072853	+	Silent	SNP	A	A	G			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr2:170072853A>G	ENST00000263816.3	-	35	6021	c.5736T>C	c.(5734-5736)acT>acC	p.T1912T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1912					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CAGTAAAGAGAGTTTTCACAG	0.502																																																0													150	136	141					2																	170072853		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5736T>C	chr2.hg19:g.170072853A>G			O00711|Q16215	Silent	SNP	ENST00000263816.3	hg19	CCDS2232.1																																																																																				0.502	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170072853	A	G	170072853	2	3	462	1	0	0	0	0	0	0	0	1	8958	291	11	3		3	LRP2	2	170072853	Silent	SNP	A	TCGA-BQ-5886-01A-11D-1589-08	72699333	170072853	73126520	6	25197											
GOLGA4	2803	hgsc.bcm.edu	37	3	37340849	37340849	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr3:37340849T>C	ENST00000361924.2	+	9	1447	c.1073T>C	c.(1072-1074)cTt>cCt	p.L358P	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.L380P	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	358	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATTGAACAGCTTGAACAAGAT	0.333																																																0													44	44	44					3																	37340849		2203	4297	6500	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1073T>C	chr3.hg19:g.37340849T>C	ENSP00000354486:p.Leu358Pro		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	hg19	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388371	0.82902	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.45	5.45	0.79879	.	0.000000	0.29830	N	0.011099	T	0.61825	0.2378	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.64939	-0.6289	10	0.52906	T	0.07	.	15.519	0.75851	0.0:0.0:0.0:1.0	.	358;380;358	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	P	358;380;363;229	ENSP00000354486:L358P;ENSP00000349305:L380P;ENSP00000387633:L363P;ENSP00000405842:L229P	ENSP00000349305:L380P	L	+	2	0	GOLGA4	37315853	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.923000	0.87546	2.077000	0.62373	0.372000	0.22366	CTT		0.333	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		C	37340849	T	C	37340849	3	2	462	1	0	0	0	0	1	0	0	0	6557	1609	56	3	1177	3	GOLGA4	3	37340849	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08		37340849	160681581	7	25198											
MORC1	27136	hgsc.bcm.edu	37	3	108788509	108788509	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr3:108788509T>A	ENST00000483760.1	-	9	828	c.785A>T	c.(784-786)aAa>aTa	p.K262I	MORC1_ENST00000232603.5_Missense_Mutation_p.K262I					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GCAAAGATGTTTAGTTTTAAC	0.373																																																0													113	113	113					3																	108788509		2203	4300	6503	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.785A>T	chr3.hg19:g.108788509T>A	ENSP00000417282:p.Lys262Ile			Missense_Mutation	SNP	ENST00000483760.1	hg19		.	.	.	.	.	.	.	.	.	.	T	20.8	4.054789	0.75960	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.74106	-0.81;-0.81	4.84	3.68	0.42216	ATPase-like, ATP-binding domain (1);	0.128321	0.35708	N	0.003033	D	0.82365	0.5021	M	0.69185	2.1	0.46298	D	0.998976	D;P	0.89917	1.0;0.892	D;P	0.87578	0.998;0.54	T	0.81984	-0.0682	10	0.62326	D	0.03	-23.3217	8.914	0.35570	0.0:0.0897:0.0:0.9103	.	262;262	E7ERX1;Q86VD1	.;MORC1_HUMAN	I	262	ENSP00000232603:K262I;ENSP00000417282:K262I	ENSP00000232603:K262I	K	-	2	0	MORC1	110271199	1.000000	0.71417	0.933000	0.37362	0.947000	0.59692	3.950000	0.56676	0.972000	0.38314	0.482000	0.46254	AAA		0.373	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			A	108788509	T	A	108788509	3	1	462	1	0	0	0	0	1	0	0	0	9703	1841	64	5	2249	5	MORC1	3	108788509	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	71447660	108788509	89233921	8	25199											
SLC30A5	64924	hgsc.bcm.edu	37	5	68399835	68399835	+	Intron	SNP	A	A	G			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr5:68399835A>G	ENST00000396591.3	+	4	883				SLC30A5_ENST00000502979.1_Missense_Mutation_p.K66R|SLC30A5_ENST00000380860.4_Missense_Mutation_p.K107R	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5						cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTTAAAGACAAAAAGTTAAAT	0.284																																																0													22	23	23					5																	68399835		2178	4287	6465	SO:0001627	intron_variant	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.274-623A>G	chr5.hg19:g.68399835A>G			B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	hg19	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950224	0.34377	.	.	ENSG00000145740	ENST00000380860;ENST00000502979	.	.	.	2.74	2.74	0.32292	.	.	.	.	.	T	0.42832	0.1220	.	.	.	0.19300	N	0.99998	P	0.37398	0.593	P	0.45577	0.486	T	0.36696	-0.9737	7	0.87932	D	0	.	7.3651	0.26768	1.0:0.0:0.0:0.0	.	107	Q9BVY8	.	R	107;66	.	ENSP00000370241:K107R	K	+	2	0	SLC30A5	68435591	0.144000	0.22641	0.636000	0.29352	0.015000	0.08874	1.174000	0.31932	1.510000	0.48803	0.459000	0.35465	AAA		0.284	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			G	68399835	A	G	68399835	1	3	462	0	1	0	0	0	0	0	0	0	14564	14	1	3		3	SLC30A5	5	68399835	Intron	SNP	A	TCGA-BQ-5886-01A-11D-1589-08		68399835	112515425	9	25200											
F2RL2	2151	hgsc.bcm.edu	37	5	75913735	75913735	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr5:75913735A>G	ENST00000296641.4	-	2	1000	c.797T>C	c.(796-798)tTg>tCg	p.L266S	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.L244S|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	266					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAGAATGCCAAGGAGATGAA	0.423																																																0													76	72	73					5																	75913735		2203	4300	6503	SO:0001583	missense	2151			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"GPCR / Class A : Protease activated receptors"	3539	protein-coding gene	gene with protein product	"proteinase-activated receptor-3"	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.797T>C	chr5.hg19:g.75913735A>G	ENSP00000296641:p.Leu266Ser		B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	hg19	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155954	0.78114	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.70045	-0.45;-0.45	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.152354	0.43579	D	0.000549	T	0.76695	0.4023	L	0.56340	1.77	0.46678	D	0.999155	D	0.89917	1.0	D	0.80764	0.994	T	0.73272	-0.4035	10	0.22706	T	0.39	-8.0196	15.2748	0.73734	1.0:0.0:0.0:0.0	.	266	O00254	PAR3_HUMAN	S	266;244	ENSP00000296641:L266S;ENSP00000426703:L244S	ENSP00000296641:L266S	L	-	2	0	F2RL2	75949491	1.000000	0.71417	0.860000	0.33809	0.967000	0.64934	8.850000	0.92190	2.006000	0.58801	0.460000	0.39030	TTG		0.423	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			G	75913735	A	G	75913735	3	3	462	1	0	0	0	0	1	0	0	0	5347	131	5	3	331	3	F2RL2	5	75913735	Missense_Mutation	SNP	A	TCGA-BQ-5886-01A-11D-1589-08	7513900	75913735	105001525	10	25201											
BHMT	635	hgsc.bcm.edu	37	5	78415082	78415082	+	Splice_Site	SNP	T	T	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr5:78415082T>C	ENST00000274353.5	+	3	274	c.167T>C	c.(166-168)gTt>gCt	p.V56A	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	56	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	ACTCTCCCAGTTCGCCAGCTT	0.433																																																0													92	87	89					5																	78415082		2203	4300	6503	SO:0001630	splice_region_variant	635			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.167-1T>C	chr5.hg19:g.78415082T>C			Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	hg19	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388243	0.82902	.	.	ENSG00000145692	ENST00000274353	T	0.45276	0.9	5.6	5.6	0.85130	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.81360	-0.0968	9	.	.	.	.	16.0786	0.80985	0.0:0.0:0.0:1.0	.	56	Q93088	BHMT1_HUMAN	A	56	ENSP00000274353:V56A	.	V	+	2	0	BHMT	78450838	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	7.669000	0.83911	2.254000	0.74563	0.460000	0.39030	GTT		0.433	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713	Missense_Mutation	C	78415082	T	C	78415082	5	2	462	1	0	0	0	0	0	0	1	0	1425	1739	60	3	177	3	BHMT	5	78415082	Splice_Site	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	2501347	78415082	102500178	11	25202											
PCDHB3	56132	hgsc.bcm.edu	37	5	140481178	140481178	+	Silent	SNP	T	T	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr5:140481178T>C	ENST00000231130.2	+	1	945	c.945T>C	c.(943-945)taT>taC	p.Y315Y	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	315	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAATAGTTATGAAGTCGACA	0.428																																																0													54	58	56					5																	140481178		2203	4300	6503	SO:0001819	synonymous_variant	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.945T>C	chr5.hg19:g.140481178T>C			B2R8P2	Silent	SNP	ENST00000231130.2	hg19	CCDS4245.1																																																																																				0.428	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		C	140481178	T	C	140481178	2	2	462	1	0	0	0	0	0	0	0	1	11545	1471	51	3		3	PCDHB3	5	140481178	Silent	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	62066096	140481178	40434082	12	25203											
ODZ2	57451	hgsc.bcm.edu	37	5	167674296	167674296	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr5:167674296C>A	ENST00000518659.1	+	27	6391	c.6352C>A	c.(6352-6354)Cgc>Agc	p.R2118S	TENM2_ENST00000545108.1_Missense_Mutation_p.R2117S|TENM2_ENST00000403607.2_Missense_Mutation_p.R1942S|TENM2_ENST00000520394.1_Missense_Mutation_p.R1879S|TENM2_ENST00000519204.1_Missense_Mutation_p.R1997S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2118					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGACCTCTACCGCTATGATGA	0.493																																																0													167	167	167					5																	167674296		2016	4172	6188	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6352C>A	chr5.hg19:g.167674296C>A	ENSP00000429430:p.Arg2118Ser		Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.69	3.678710	0.68042	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89123	-1.99;-1.98;-2.09;-2.44;-2.47	5.44	5.44	0.79542	.	0.103671	0.64402	D	0.000001	D	0.93861	0.8036	M	0.71581	2.175	0.54753	D	0.999989	D;P;D	0.69078	0.974;0.899;0.997	P;B;D	0.75484	0.807;0.44;0.986	D	0.92184	0.5754	10	0.30854	T	0.27	.	19.2461	0.93902	0.0:1.0:0.0:0.0	.	2117;2118;1879	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	S	2118;2117;1997;1879;1942	ENSP00000429430:R2118S;ENSP00000438635:R2117S;ENSP00000428964:R1997S;ENSP00000427874:R1879S;ENSP00000384905:R1942S	ENSP00000384905:R1942S	R	+	1	0	ODZ2	167606874	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.906000	0.56340	2.560000	0.86352	0.561000	0.74099	CGC		0.493	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		A	167674296	C	A	167674296	3	1	462	1	0	0	0	0	1	0	0	0	10837	652	23	4	6431	4	ODZ2	5	167674296	Missense_Mutation	SNP	C	TCGA-BQ-5886-01A-11D-1589-08	27193118	167674296	13240964	13	25204											
PFN3	345456	hgsc.bcm.edu	37	5	176827191	176827191	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr5:176827191T>C	ENST00000358571.2	-	1	446	c.387A>G	c.(385-387)atA>atG	p.I129M	F12_ENST00000514943.1_5'Flank	NM_001029886.2	NP_001025057.1	P60673	PROF3_HUMAN	profilin 3	129					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	lipid binding (GO:0008289)			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCCCGCGTATGAGTTCGT	0.706																																																0													18	19	19					5																	176827191		2099	4229	6328	SO:0001583	missense	345456			AC090063	CCDS34301.1	5q35.2	2008-08-26			ENSG00000196570	ENSG00000196570			18627	protein-coding gene	gene with protein product		612812				11867228	Standard	NM_001029886		Approved		uc003mgl.2	P60673	OTTHUMG00000163408	ENST00000358571.2:c.387A>G	chr5.hg19:g.176827191T>C	ENSP00000351379:p.Ile129Met		A2RUL3	Missense_Mutation	SNP	ENST00000358571.2	hg19	CCDS34301.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732218	0.30684	.	.	ENSG00000196570	ENST00000358571	D	0.85861	-2.04	4.76	2.91	0.33838	.	0.294068	0.29459	N	0.012099	D	0.86167	0.5868	L	0.44542	1.39	0.21652	N	0.999609	D	0.71674	0.998	D	0.79108	0.992	T	0.74847	-0.3525	10	0.39692	T	0.17	.	5.3821	0.16197	0.1086:0.0:0.6881:0.2033	.	129	P60673	PROF3_HUMAN	M	129	ENSP00000351379:I129M	ENSP00000351379:I129M	I	-	3	3	PFN3	176759797	0.015000	0.18098	0.596000	0.28811	0.168000	0.22595	-0.004000	0.12878	0.415000	0.25817	-0.724000	0.03597	ATA		0.706	PFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373234.1	NM_001029886		C	176827191	T	C	176827191	3	2	462	1	0	0	0	0	1	0	0	0	11771	1628	57	3	30	3	PFN3	5	176827191	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	9152895	176827191	4088069	14	25205											
VARS2	57176	hgsc.bcm.edu	37	6	30893383	30893383	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr6:30893383G>C	ENST00000321897.5	+	27	3480	c.2848G>C	c.(2848-2850)Ggc>Cgc	p.G950R	VARS2_ENST00000542001.1_Missense_Mutation_p.G810R|VARS2_ENST00000416670.2_Missense_Mutation_p.G950R|VARS2_ENST00000541562.1_Missense_Mutation_p.G980R|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	950					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGAGCCCCTGGGCACCCTGGG	0.647																																																0													19	22	21					6																	30893383		1493	2701	4194	SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2848G>C	chr6.hg19:g.30893383G>C	ENSP00000316092:p.Gly950Arg		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	hg19	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	5.589	0.293519	0.10567	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.62	3.84	0.44239	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.708730	0.14077	N	0.342996	T	0.13628	0.0330	L	0.44542	1.39	0.30330	N	0.78675	B;B;B;B	0.29988	0.264;0.001;0.002;0.0	B;B;B;B	0.26094	0.066;0.001;0.001;0.0	T	0.15378	-1.0439	10	0.15952	T	0.53	-9.346	8.9906	0.36022	0.1719:0.0:0.8281:0.0	.	388;948;980;950	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	R	950;950;810;980	ENSP00000316092:G950R;ENSP00000394802:G950R;ENSP00000438200:G810R;ENSP00000441000:G980R	ENSP00000316092:G950R	G	+	1	0	VARS2	31001362	0.997000	0.39634	1.000000	0.80357	0.153000	0.21895	0.990000	0.29642	0.737000	0.32582	-0.140000	0.14226	GGC		0.647	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		C	30893383	G	C	30893383	3	2	462	1	0	0	0	0	1	0	0	0	17129	1232	43	4	3048	4	VARS2	6	30893383	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08		30893383	140221684	15	25206											
TTBK1	84630	hgsc.bcm.edu	37	6	43226956	43226956	+	Silent	SNP	C	C	G			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr6:43226956C>G	ENST00000259750.4	+	11	1280	c.1197C>G	c.(1195-1197)gtC>gtG	p.V399V	TTBK1_ENST00000304139.5_Silent_p.V348V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	399					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGGCTGAAGTCTGGGAGGAGA	0.642																																																0													51	58	56					6																	43226956		2203	4300	6503	SO:0001819	synonymous_variant	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1197C>G	chr6.hg19:g.43226956C>G			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	hg19	CCDS34455.1																																																																																				0.642	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			G	43226956	C	G	43226956	2	3	462	1	0	0	0	0	0	0	0	1	16681	900	32	4		4	TTBK1	6	43226956	Silent	SNP	C	TCGA-BQ-5886-01A-11D-1589-08	12333573	43226956	127888111	16	25207											
GPR110	266977	hgsc.bcm.edu	37	6	46977043	46977043	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr6:46977043G>A	ENST00000371253.2	-	11	2343	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	GPR110_ENST00000283297.5_Missense_Mutation_p.P513S|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	710					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATAATGAGAGGGCACCCATAA	0.478																																																0													88	80	83					6																	46977043		2203	4300	6503	SO:0001583	missense	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2128C>T	chr6.hg19:g.46977043G>A	ENSP00000360299:p.Pro710Ser		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	hg19	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576276	0.86645	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	D;D	0.84516	-1.86;-1.86	5.9	5.9	0.94986	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000013	D	0.93572	0.7948	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93726	0.7037	10	0.87932	D	0	-22.4263	20.2789	0.98501	0.0:0.0:1.0:0.0	.	710	Q5T601	GP110_HUMAN	S	710;513	ENSP00000360299:P710S;ENSP00000283297:P513S	ENSP00000283297:P513S	P	-	1	0	GPR110	47085002	1.000000	0.71417	0.995000	0.50966	0.855000	0.48748	9.861000	0.99562	2.788000	0.95919	0.650000	0.86243	CCT		0.478	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		A	46977043	G	A	46977043	3	1	462	1	0	0	0	0	1	0	0	0	6629	1232	43	2	624	2	GPR110	6	46977043	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08	3750087	46977043	124138024	17	25208											
C6orf170	221322	hgsc.bcm.edu	37	6	121576521	121576521	+	Silent	SNP	T	T	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr6:121576521T>A	ENST00000398212.2	-	17	2020	c.1971A>T	c.(1969-1971)gtA>gtT	p.V657V	TBC1D32_ENST00000275159.6_Silent_p.V657V	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	657					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CAGAACCCTCTACTGGAGTAG	0.289																																																0													55	55	55					6																	121576521		1794	4047	5841	SO:0001819	synonymous_variant	221322			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1971A>T	chr6.hg19:g.121576521T>A			Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	hg19	CCDS43501.1																																																																																				0.289	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		A	121576521	T	A	121576521	2	1	462	1	0	0	0	0	0	0	0	1	2346	1509	53	5		5	C6orf170	6	121576521	Silent	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	74599478	121576521	49538546	18	25209											
HIVEP2	3097	hgsc.bcm.edu	37	6	143091819	143091819	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr6:143091819T>C	ENST00000367604.1	-	4	4696	c.4057A>G	c.(4057-4059)Att>Gtt	p.I1353V	HIVEP2_ENST00000367603.2_Missense_Mutation_p.I1353V|HIVEP2_ENST00000012134.2_Missense_Mutation_p.I1353V			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATCTGAGAAATGCTTGTGTAC	0.507																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											0													81	80	80					6																	143091819		2007	4178	6185	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4057A>G	chr6.hg19:g.143091819T>C	ENSP00000356576:p.Ile1353Val		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	hg19	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	9.819	1.185356	0.21870	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02121	4.44;4.44;4.44	6.08	6.08	0.98989	.	0.046170	0.85682	D	0.000000	T	0.01092	0.0036	L	0.38953	1.18	0.46927	D	0.999254	B	0.30236	0.274	B	0.19666	0.026	T	0.62296	-0.6884	10	0.23891	T	0.37	-16.7632	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1353	P31629	ZEP2_HUMAN	V	1353	ENSP00000356576:I1353V;ENSP00000356575:I1353V;ENSP00000012134:I1353V	ENSP00000012134:I1353V	I	-	1	0	HIVEP2	143133512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.593000	0.61034	2.333000	0.79357	0.533000	0.62120	ATT		0.507	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			C	143091819	T	C	143091819	3	2	462	1	0	0	0	0	1	0	0	0	7189	1464	51	3	3307	3	HIVEP2	6	143091819	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	21515298	143091819	28023248	19	25210											
CADPS2	93664	hgsc.bcm.edu	37	7	122269335	122269335	+	Silent	SNP	A	A	G			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr7:122269335A>G	ENST00000449022.2	-	4	853	c.834T>C	c.(832-834)gaT>gaC	p.D278D	CADPS2_ENST00000412584.2_Silent_p.D278D|CADPS2_ENST00000313070.7_Silent_p.D278D|CADPS2_ENST00000334010.7_Silent_p.D278D	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	278					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GCAGCCGGCCATCAAGTTCCC	0.358																																																0													67	64	65					7																	122269335		1866	4095	5961	SO:0001819	synonymous_variant	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.834T>C	chr7.hg19:g.122269335A>G			A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	hg19	CCDS55158.1																																																																																				0.358	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		G	122269335	A	G	122269335	2	3	462	1	0	0	0	0	0	0	0	1	2573	214	8	3		3	CADPS2	7	122269335	Silent	SNP	A	TCGA-BQ-5886-01A-11D-1589-08		122269335	36869328	20	25211											
NUP205	23165	hgsc.bcm.edu	37	7	135276257	135276257	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr7:135276257T>G	ENST00000285968.6	+	11	1559	c.1533T>G	c.(1531-1533)atT>atG	p.I511M	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	511					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTATTTATATTCCTTATTTGA	0.403																																																0													122	115	117					7																	135276257		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1533T>G	chr7.hg19:g.135276257T>G	ENSP00000285968:p.Ile511Met		A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	hg19	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806891	0.70797	.	.	ENSG00000155561	ENST00000285968	T	0.32023	1.47	5.96	3.3	0.37823	.	0.043164	0.85682	D	0.000000	T	0.32615	0.0835	L	0.55481	1.735	0.80722	D	1	P	0.51653	0.947	P	0.50231	0.635	T	0.06427	-1.0827	10	0.46703	T	0.11	-10.0959	4.1716	0.10332	0.1437:0.2942:0.0:0.5621	.	511	Q92621	NU205_HUMAN	M	511	ENSP00000285968:I511M	ENSP00000285968:I511M	I	+	3	3	NUP205	134926797	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.569000	0.23638	0.394000	0.25230	0.533000	0.62120	ATT		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			G	135276257	T	G	135276257	3	3	462	1	0	0	0	0	1	0	0	0	10761	1771	62	5	1575	5	NUP205	7	135276257	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	13006922	135276257	23862406	21	25212											
RGS20	8601	hgsc.bcm.edu	37	8	54764571	54764572	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr8:54764571_54764572delAT	ENST00000297313.3	+	1	204_205	c.112_113delAT	c.(112-114)attfs	p.I38fs	RGS20_ENST00000344277.6_Frame_Shift_Del_p.I38fs	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	38					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TAATACAGACATTCACCAAATC	0.455																																																0																																										SO:0001589	frameshift_variant	8601			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"Regulators of G-protein signaling"	14600	protein-coding gene	gene with protein product		607193	"regulator of G-protein signalling 20"			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.112_113delAT	chr8.hg19:g.54764571_54764572delAT	ENSP00000297313:p.Ile38fs		Q96BG9	Frame_Shift_Del	DEL	ENST00000297313.3	hg19	CCDS6155.1																																																																																				0.455	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			-	54764572	AT	-	54764571	7	5	462	1	0	1	0	1	0	0	0	0	13309	217	8	0	114	0	RGS20	8	54764571	Frame_Shift_Del	DEL	AT	TCGA-BQ-5886-01A-11D-1589-08		54764571	91599451	22	25213											
SMC2	10592	hgsc.bcm.edu	37	9	106862707	106862707	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr9:106862707T>C	ENST00000286398.7	+	7	917	c.629T>C	c.(628-630)tTa>tCa	p.L210S	SMC2_ENST00000374793.3_Missense_Mutation_p.L210S|SMC2_ENST00000374787.3_Missense_Mutation_p.L210S|SMC2_ENST00000303219.8_Missense_Mutation_p.L210S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	210					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATTCAAAAATTAAAAGAGGTA	0.274																																																0													37	45	42					9																	106862707		2179	4270	6449	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.629T>C	chr9.hg19:g.106862707T>C	ENSP00000286398:p.Leu210Ser		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	hg19	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465044	0.84425	.	.	ENSG00000136824	ENST00000286398;ENST00000440179;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	5.57	5.57	0.84162	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	M	0.93898	3.47	0.52501	D	0.999959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.57940	-0.7724	10	0.87932	D	0	-5.7921	14.5587	0.68120	0.0:0.0:0.0:1.0	.	210;210;210	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	S	210;65;210;210;210;210	ENSP00000286398:L210S;ENSP00000414999:L65S;ENSP00000363925:L210S;ENSP00000306152:L210S;ENSP00000363919:L210S	ENSP00000286398:L210S	L	+	2	0	SMC2	105902528	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.677000	0.84024	2.109000	0.64355	0.528000	0.53228	TTA		0.274	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			C	106862707	T	C	106862707	3	2	462	1	0	0	0	0	1	0	0	0	14789	1764	61	3	651	3	SMC2	9	106862707	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08		106862707	34350724	23	25214											
PTGR1	22949	hgsc.bcm.edu	37	9	114359672	114359672	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr9:114359672T>G	ENST00000407693.2	-	2	293	c.31A>C	c.(31-33)Aag>Cag	p.K11Q	PTGR1_ENST00000538962.1_Missense_Mutation_p.K11Q|PTGR1_ENST00000238248.3_5'UTR|PTGR1_ENST00000309195.5_Missense_Mutation_p.K11Q	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	11					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						ACAAAGTGCTTCTTCAGGGTC	0.403																																					Ovarian(200;132 2151 7551 19220 46064)											0													109	95	100					9																	114359672		2203	4300	6503	SO:0001583	missense	22949			D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"zinc binding alcohol dehydrogenase domain containing 3"	601274	"leukotriene B4 12-hydroxydehydrogenase"	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.31A>C	chr9.hg19:g.114359672T>G	ENSP00000385763:p.Lys11Gln		A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	hg19	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483746	0.26598	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000333580;ENST00000422125;ENST00000374313;ENST00000374308	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	4.62	4.62	0.57501	GroES-like (1);	0.092047	0.85682	D	0.000000	T	0.43656	0.1257	M	0.62154	1.92	0.80722	D	1	B;B;B	0.33171	0.4;0.278;0.077	B;B;B	0.29440	0.102;0.061;0.015	T	0.46665	-0.9175	10	0.48119	T	0.1	2.0981	12.2191	0.54423	0.0:0.0:0.0:1.0	.	11;11;11	F5GY50;B4DPK3;Q14914	.;.;PTGR1_HUMAN	Q	11	ENSP00000440281:K11Q;ENSP00000311572:K11Q;ENSP00000385763:K11Q;ENSP00000395965:K11Q	ENSP00000311572:K11Q	K	-	1	0	PTGR1	113399493	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	2.756000	0.47549	2.020000	0.59435	0.374000	0.22700	AAG		0.403	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			G	114359672	T	G	114359672	3	3	462	1	0	0	0	0	1	0	0	0	12759	1792	62	5	1025	5	PTGR1	9	114359672	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	7496965	114359672	26853759	24	25215											
C10orf62	414157	hgsc.bcm.edu	37	10	99349694	99349694	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr10:99349694T>A	ENST00000370640.3	+	1	245	c.40T>A	c.(40-42)Tct>Act	p.S14T	PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000370649.3_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	14										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		AAAGGAAACCTCTGAGTGTCC	0.502																																																0													100	100	100					10																	99349694		2203	4300	6503	SO:0001583	missense	414157				CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.40T>A	chr10.hg19:g.99349694T>A	ENSP00000359674:p.Ser14Thr		Q49A70|Q8N3Y6	Missense_Mutation	SNP	ENST00000370640.3	hg19	CCDS31261.1	.	.	.	.	.	.	.	.	.	.	T	4.766	0.142421	0.09083	.	.	ENSG00000203942	ENST00000370640	T	0.42513	0.97	5.27	-10.5	0.00291	.	3.688920	0.00929	N	0.002686	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.18777	-1.0326	10	0.14656	T	0.56	.	1.8333	0.03134	0.3493:0.094:0.1283:0.4284	.	14	Q5T681	CJ062_HUMAN	T	14	ENSP00000359674:S14T	ENSP00000359674:S14T	S	+	1	0	C10orf62	99339684	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.585000	0.00903	-2.847000	0.00332	-1.294000	0.01345	TCT		0.502	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		A	99349694	T	A	99349694	3	1	462	1	0	0	0	0	1	0	0	0	1613	1551	54	5	42	5	C10orf62	10	99349694	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08		99349694	36185053	25	25216											
NPS	594857	hgsc.bcm.edu	37	10	129350829	129350829	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr10:129350829delT	ENST00000398023.1	+	3	216	c.196delT	c.(196-198)tttfs	p.F66fs		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	66					neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|visual learning (GO:0008542)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						GGAGAAGATGTTTGTGAAAAG	0.413																																																0													204	199	201					10																	129350829		1843	4101	5944	SO:0001589	frameshift_variant	594857			BC148465	CCDS41577.1	10q26.2	2013-02-26			ENSG00000214285	ENSG00000214285		"Endogenous ligands"	33940	protein-coding gene	gene with protein product	"prepro-neuropeptide S"	609513				18181564, 15312648	Standard	NM_001030013		Approved		uc001ljx.1	P0C0P6		ENST00000398023.1:c.196delT	chr10.hg19:g.129350829delT	ENSP00000381105:p.Phe66fs			Frame_Shift_Del	DEL	ENST00000398023.1	hg19	CCDS41577.1																																																																																				0.413	NPS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001030013		-	129350829	T	-	129350829	7	5	462	1	0	1	0	1	0	0	0	0	10601	1725	60	0	206	0	NPS	10	129350829	Frame_Shift_Del	DEL	T	TCGA-BQ-5886-01A-11D-1589-08	30001135	129350829	6183918	26	25217											
ST5	6764	hgsc.bcm.edu	37	11	8751785	8751785	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr11:8751785G>A	ENST00000534127.1	-	6	1437	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	ST5_ENST00000313726.6_Missense_Mutation_p.P351L|ST5_ENST00000357665.1_Missense_Mutation_p.P351L|ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	351	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCTCTCTGGGGGTGGGCCCGC	0.687																																																0													41	47	45					11																	8751785		2201	4296	6497	SO:0001583	missense	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1052C>T	chr11.hg19:g.8751785G>A	ENSP00000433528:p.Pro351Leu		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	hg19	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487492	0.44249	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.04809	3.55;3.55;3.55	6.17	5.27	0.74061	.	0.340768	0.28409	N	0.015455	T	0.06325	0.0163	L	0.41236	1.265	0.46798	D	0.999205	B	0.06786	0.001	B	0.06405	0.002	T	0.28808	-1.0032	10	0.33940	T	0.23	-18.7575	15.9068	0.79436	0.0643:0.0:0.9357:0.0	.	351	P78524	ST5_HUMAN	L	351	ENSP00000433528:P351L;ENSP00000319678:P351L;ENSP00000350294:P351L	ENSP00000319678:P351L	P	-	2	0	ST5	8708361	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.667000	0.61561	1.642000	0.50584	-0.123000	0.14984	CCC		0.687	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		A	8751785	G	A	8751785	3	1	462	1	0	0	0	0	1	0	0	0	15225	1232	43	2	2433	2	ST5	11	8751785	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08		8751785	126254731	27	25218											
AHNAK	79026	hgsc.bcm.edu	37	11	62290316	62290316	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr11:62290316C>T	ENST00000378024.4	-	5	11847	c.11573G>A	c.(11572-11574)gGt>gAt	p.G3858D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3858					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAATTTGGGACCTTTCAACTT	0.478																																																0													196	202	200					11																	62290316		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11573G>A	chr11.hg19:g.62290316C>T	ENSP00000367263:p.Gly3858Asp		A1A586	Missense_Mutation	SNP	ENST00000378024.4	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	12.21	1.869769	0.33069	.	.	ENSG00000124942	ENST00000378024	T	0.03496	3.91	4.51	4.51	0.55191	.	0.000000	0.42053	D	0.000767	T	0.21227	0.0511	M	0.93594	3.435	0.46678	D	0.999153	D	0.65815	0.995	P	0.61201	0.885	T	0.41106	-0.9527	10	0.15499	T	0.54	.	17.021	0.86433	0.0:1.0:0.0:0.0	.	3858	Q09666	AHNK_HUMAN	D	3858	ENSP00000367263:G3858D	ENSP00000367263:G3858D	G	-	2	0	AHNAK	62046892	0.954000	0.32549	0.066000	0.19879	0.046000	0.14306	4.583000	0.60964	2.350000	0.79820	0.543000	0.68304	GGT		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62290316	C	T	62290316	3	4	462	1	0	0	0	0	1	0	0	0	414	507	18	2	6219	2	AHNAK	11	62290316	Missense_Mutation	SNP	C	TCGA-BQ-5886-01A-11D-1589-08	53538531	62290316	72716200	28	25219											
TUT1	64852	hgsc.bcm.edu	37	11	62346405	62346405	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr11:62346405T>C	ENST00000476907.1	-	5	1479	c.788A>G	c.(787-789)gAt>gGt	p.D263G	MIR3654_ENST00000496634.2_Missense_Mutation_p.D263G|TUT1_ENST00000308436.7_Missense_Mutation_p.D301G			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	263	Pro-rich.				mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGGTTGTGAATCTGGAGGGGA	0.627																																																0													38	45	43					11																	62346405		2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.788A>G	chr11.hg19:g.62346405T>C	ENSP00000419607:p.Asp263Gly		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	hg19		.	.	.	.	.	.	.	.	.	.	T	10.15	1.271130	0.23221	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000278279	T;T	0.40476	1.03;1.05	4.91	2.58	0.30949	.	0.311232	0.25590	N	0.029624	T	0.29256	0.0728	L	0.36672	1.1	0.24619	N	0.993685	B	0.12013	0.005	B	0.12156	0.007	T	0.20940	-1.0260	10	0.54805	T	0.06	1.3697	5.9223	0.19088	0.0:0.2193:0.0:0.7807	.	301	F5H0R1	.	G	301;263;124	ENSP00000308000:D301G;ENSP00000419607:D263G	ENSP00000441670:D263G	D	-	2	0	TUT1	62102981	1.000000	0.71417	0.932000	0.37286	0.144000	0.21451	1.147000	0.31602	0.370000	0.24538	0.460000	0.39030	GAT		0.627	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		C	62346405	T	C	62346405	3	2	462	1	0	0	0	0	1	0	0	0	16785	1435	50	3	1856	3	TUT1	11	62346405	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	56089	62346405	72660111	29	25220											
ARHGEF12	23365	hgsc.bcm.edu	37	11	120336044	120336044	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr11:120336044G>T	ENST00000397843.2	+	28	2878	c.2712G>T	c.(2710-2712)aaG>aaT	p.K904N	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K801N|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K885N	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	904	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GTCAGAAAAAGGATTCTCGAT	0.393			T	MLL	AML																																		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													94	89	91					11																	120336044		1863	4111	5974	SO:0001583	missense	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2712G>T	chr11.hg19:g.120336044G>T	ENSP00000380942:p.Lys904Asn		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	hg19	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000713	0.74818	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.70282	-0.47;-0.47;-0.47	5.69	4.78	0.61160	Dbl homology (DH) domain (5);	0.000000	0.51477	D	0.000085	D	0.82577	0.5067	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.83981	0.0332	10	0.66056	D	0.02	-17.5309	10.7839	0.46395	0.1444:0.0:0.8556:0.0	.	801;885;904	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	N	904;885;801	ENSP00000380942:K904N;ENSP00000349056:K885N;ENSP00000432984:K801N	ENSP00000349056:K885N	K	+	3	2	ARHGEF12	119841254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.679000	0.46909	1.424000	0.47217	0.650000	0.86243	AAG		0.393	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		T	120336044	G	T	120336044	3	4	462	1	0	0	0	0	1	0	0	0	897	991	35	4	2822	4	ARHGEF12	11	120336044	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08	57989639	120336044	14670472	30	25221											
MCRS1	10445	hgsc.bcm.edu	37	12	49956786	49956786	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr12:49956786G>C	ENST00000550165.1	-	9	1069	c.803C>G	c.(802-804)aCa>aGa	p.T268R	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.T77R|MCRS1_ENST00000357123.4_Missense_Mutation_p.T281R|MCRS1_ENST00000343810.4_Missense_Mutation_p.T268R			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	268					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GGCGTTACCTGTCTGGTCCTC	0.587																																																0													45	36	39					12																	49956786		2203	4298	6501	SO:0001583	missense	10445			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"INO80 complex subunits"	6960	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.803C>G	chr12.hg19:g.49956786G>C	ENSP00000448056:p.Thr268Arg		O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	ENST00000550165.1	hg19	CCDS8787.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848843	0.71603	.	.	ENSG00000187778	ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173	.	.	.	5.64	5.64	0.86602	.	0.086145	0.85682	D	0.000000	T	0.66723	0.2818	L	0.47716	1.5	0.53005	D	0.999967	P;P;P	0.51351	0.944;0.642;0.887	P;B;P	0.56042	0.79;0.305;0.668	T	0.68372	-0.5426	9	0.72032	D	0.01	-8.7582	17.2003	0.86904	0.0:0.0:1.0:0.0	.	255;268;281	F8W126;Q96EZ8;Q96EZ8-2	.;MCRS1_HUMAN;.	R	77;268;268;281;255	.	ENSP00000345358:T268R	T	-	2	0	MCRS1	48243053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.847000	0.69451	2.662000	0.90505	0.555000	0.69702	ACA		0.587	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		C	49956786	G	C	49956786	3	2	462	1	0	0	0	0	1	0	0	0	9401	1377	48	4	617	4	MCRS1	12	49956786	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08		49956786	83895109	31	25222											
MON2	23041	hgsc.bcm.edu	37	12	62972277	62972277	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr12:62972277G>A	ENST00000393632.2	+	31	4958	c.4567G>A	c.(4567-4569)Gat>Aat	p.D1523N	MON2_ENST00000552738.1_Missense_Mutation_p.D1494N|MON2_ENST00000393630.3_Missense_Mutation_p.D1524N|MON2_ENST00000546600.1_Missense_Mutation_p.D1523N|MON2_ENST00000393629.2_Missense_Mutation_p.D1517N|MON2_ENST00000280379.6_Missense_Mutation_p.D1524N	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1523					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGAAAATATTGATGTCGAGGT	0.284																																																0													30	30	30					12																	62972277		2200	4284	6484	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4567G>A	chr12.hg19:g.62972277G>A	ENSP00000377252:p.Asp1523Asn		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	hg19	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188128	0.94923	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.76506	0.3997	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.993;0.997;0.982;0.992;1.0	T	0.74993	-0.3474	9	.	.	.	-19.6244	19.7297	0.96177	0.0:0.0:1.0:0.0	.	1517;1494;1523;392;1523	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	N	1523;1524;1524;1523;1494;1517	ENSP00000377252:D1523N;ENSP00000377250:D1524N;ENSP00000280379:D1524N;ENSP00000447407:D1523N;ENSP00000449215:D1494N;ENSP00000377249:D1517N	.	D	+	1	0	MON2	61258544	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.471000	0.97696	2.658000	0.90341	0.650000	0.86243	GAT		0.284	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		A	62972277	G	A	62972277	3	1	462	1	0	0	0	0	1	0	0	0	9702	1290	45	2	4689	2	MON2	12	62972277	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08	13015491	62972277	70879618	32	25223											
NAP1L1	4673	hgsc.bcm.edu	37	12	76444427	76444427	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr12:76444427C>T	ENST00000261182.8	-	12	1429	c.943G>A	c.(943-945)Gat>Aat	p.D315N	NAP1L1_ENST00000544816.1_Missense_Mutation_p.D132N|NAP1L1_ENST00000393263.3_Missense_Mutation_p.D315N|NAP1L1_ENST00000547993.1_Missense_Mutation_p.D132N|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D273N|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D315N|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D315N|NAP1L1_ENST00000548044.1_Missense_Mutation_p.D274N|NAP1L1_ENST00000431879.3_Missense_Mutation_p.D247N|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D326N|NAP1L1_ENST00000547773.1_Missense_Mutation_p.D252N	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	315					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GCTTCAGCATCATCATCCTAT	0.373																																																0													63	60	61					12																	76444427		2203	4300	6503	SO:0001583	missense	4673				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.943G>A	chr12.hg19:g.76444427C>T	ENSP00000261182:p.Asp315Asn		B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	hg19	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682803	0.88542	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044	T;T;T;T;T;T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	M	0.68952	2.095	0.80722	D	1	B;B;B;B;B;B;B	0.34226	0.389;0.18;0.389;0.443;0.18;0.162;0.202	B;B;B;B;B;B;B	0.42163	0.274;0.378;0.274;0.196;0.285;0.135;0.196	T	0.40701	-0.9549	10	0.66056	D	0.02	.	19.7712	0.96366	0.0:1.0:0.0:0.0	.	315;273;326;315;247;252;315	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	N	315;309;315;247;252;132;273;315;315;132;326;274	ENSP00000261182:D315N;ENSP00000450236:D309N;ENSP00000376947:D315N;ENSP00000409795:D247N;ENSP00000448167:D252N;ENSP00000437507:D132N;ENSP00000444759:D273N;ENSP00000445008:D315N;ENSP00000447793:D315N;ENSP00000448007:D132N;ENSP00000447196:D326N;ENSP00000449649:D274N	ENSP00000261182:D315N	D	-	1	0	NAP1L1	74730694	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.677000	0.91161	0.585000	0.79938	GAT		0.373	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		T	76444427	C	T	76444427	3	4	462	1	0	0	0	0	1	0	0	0	10158	826	29	2	248	2	NAP1L1	12	76444427	Missense_Mutation	SNP	C	TCGA-BQ-5886-01A-11D-1589-08	13472150	76444427	57407468	33	25224											
HMGB1	3146	hgsc.bcm.edu	37	13	31036826	31036826	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr13:31036826G>A	ENST00000405805.1	-	4	1260	c.320C>T	c.(319-321)tCt>tTt	p.S107F	HMGB1_ENST00000399494.1_Missense_Mutation_p.S107F|HMGB1_ENST00000341423.5_Missense_Mutation_p.S107F|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000399489.1_Missense_Mutation_p.S107F|HMGB1_ENST00000326004.4_Missense_Mutation_p.S107F|HMGB1_ENST00000339872.4_Missense_Mutation_p.S107F			P09429	HMGB1_HUMAN	high mobility group box 1	107					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		GCGATACTCAGAGCAGAAGAG	0.393																																																0													45	46	46					13																	31036826		2187	4290	6477	SO:0001583	missense	3146			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.320C>T	chr13.hg19:g.31036826G>A	ENSP00000384678:p.Ser107Phe		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	ENST00000405805.1	hg19	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868452	0.72065	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399489;ENST00000399494;ENST00000426225;ENST00000326004	D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.5	3.76	0.43208	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.53938	D	0.000050	D	0.97977	0.9334	M	0.85373	2.75	0.80722	D	1	B;P;B;B	0.37176	0.099;0.586;0.314;0.204	B;P;P;B	0.49047	0.2;0.599;0.498;0.264	D	0.97456	1.0031	10	0.87932	D	0	.	10.4698	0.44629	0.0694:0.0:0.7963:0.1343	.	107;68;107;107	B7Z965;B3KQ05;P09429;Q5T7C4	.;.;HMGB1_HUMAN;.	F	107	ENSP00000384678:S107F;ENSP00000343040:S107F;ENSP00000345347:S107F;ENSP00000382412:S107F;ENSP00000382417:S107F;ENSP00000369904:S107F	ENSP00000369904:S107F	S	-	2	0	HMGB1	29934826	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.536000	0.82023	0.683000	0.31428	-0.148000	0.13756	TCT		0.393	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		A	31036826	G	A	31036826	3	1	462	1	0	0	0	0	1	0	0	0	7227	942	33	2	335	2	HMGB1	13	31036826	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08		31036826	84133052	34	25225	194	2									
HMGB1	3146	hgsc.bcm.edu	37	13	31036836	31036836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr13:31036836delG	ENST00000405805.1	-	4	1250	c.310delC	c.(310-312)ctcfs	p.L104fs	HMGB1_ENST00000399494.1_Frame_Shift_Del_p.L104fs|HMGB1_ENST00000341423.5_Frame_Shift_Del_p.L104fs|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000399489.1_Frame_Shift_Del_p.L104fs|HMGB1_ENST00000326004.4_Frame_Shift_Del_p.L104fs|HMGB1_ENST00000339872.4_Frame_Shift_Del_p.L104fs			P09429	HMGB1_HUMAN	high mobility group box 1	104					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		GAGCAGAAGAGGAAGAAGGCC	0.378																																																0													42	43	43					13																	31036836		2183	4287	6470	SO:0001589	frameshift_variant	3146			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.310delC	chr13.hg19:g.31036836delG	ENSP00000384678:p.Leu104fs		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Frame_Shift_Del	DEL	ENST00000405805.1	hg19	CCDS9335.1																																																																																				0.378	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		-	31036836	G	-	31036836	7	5	462	1	0	1	0	1	0	0	0	0	7227	1000	35	0	345	0	HMGB1	13	31036836	Frame_Shift_Del	DEL	G	TCGA-BQ-5886-01A-11D-1589-08	10	31036836	84133042	35	25226	194	2									
ELF1	1997	hgsc.bcm.edu	37	13	41515309	41515309	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr13:41515309G>A	ENST00000239882.3	-	8	1318	c.1004C>T	c.(1003-1005)cCa>cTa	p.P335L	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P311L	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	335					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTTTACCCCTGGACTTGAAGA	0.453																																																0													131	134	133					13																	41515309		2203	4300	6503	SO:0001583	missense	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1004C>T	chr13.hg19:g.41515309G>A	ENSP00000239882:p.Pro335Leu		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	hg19	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460748	0.43736	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.55413	0.52;0.52	5.47	5.47	0.80525	.	0.503265	0.21383	N	0.075437	T	0.43612	0.1255	L	0.29908	0.895	0.38663	D	0.952122	B;B	0.25235	0.059;0.121	B;B	0.18263	0.015;0.021	T	0.41752	-0.9491	10	0.54805	T	0.06	.	16.6683	0.85259	0.0:0.1294:0.8706:0.0	.	311;335	E9PDQ9;P32519	.;ELF1_HUMAN	L	311;77;335	ENSP00000405580:P311L;ENSP00000239882:P335L	ENSP00000239882:P335L	P	-	2	0	ELF1	40413309	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.056000	0.57448	2.729000	0.93468	0.655000	0.94253	CCA		0.453	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		A	41515309	G	A	41515309	3	1	462	1	0	0	0	0	1	0	0	0	5055	1348	47	2	863	2	ELF1	13	41515309	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08	10478473	41515309	73654569	36	25227											
GPHN	10243	hgsc.bcm.edu	37	14	67389425	67389425	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr14:67389425G>C	ENST00000315266.5	+	7	1620	c.499G>C	c.(499-501)Gac>Cac	p.D167H	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Missense_Mutation_p.D149H|GPHN_ENST00000543237.1_Missense_Mutation_p.D180H|GPHN_ENST00000478722.1_Missense_Mutation_p.D167H|GPHN_ENST00000305960.9_Missense_Mutation_p.D136H	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	167	Interaction with GABARAP. {ECO:0000250}.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TCATGCCATTGACCTTTTACG	0.403			T	MLL	AL																																		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0													187	164	172					14																	67389425		2203	4300	6503	SO:0001583	missense	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.499G>C	chr14.hg19:g.67389425G>C	ENSP00000312771:p.Asp167His		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	hg19	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999756	0.74818	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960;ENST00000555456	.	.	.	5.02	4.12	0.48240	Molybdopterin binding (2);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	N	0.08118	0	0.58432	D	0.999994	B;D;B;D;D	0.89917	0.343;1.0;0.047;0.999;0.999	B;D;B;D;D	0.91635	0.281;0.999;0.052;0.993;0.989	T	0.62946	-0.6746	9	0.87932	D	0	-6.4813	13.7767	0.63057	0.0761:0.0:0.9239:0.0	.	136;180;167;167;149	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	H	167;167;149;180;136;100	.	ENSP00000303019:D136H	D	+	1	0	GPHN	66459178	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.550000	0.98110	2.321000	0.78463	0.655000	0.94253	GAC		0.403	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		C	67389425	G	C	67389425	3	2	462	1	0	0	0	0	1	0	0	0	6612	1290	45	4	525	4	GPHN	14	67389425	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08		67389425	39960115	37	25228											
ATG2B	55102	hgsc.bcm.edu	37	14	96761860	96761860	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr14:96761860A>T	ENST00000359933.4	-	35	6070	c.5177T>A	c.(5176-5178)cTt>cAt	p.L1726H	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1726					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCTGCAGAAAGACTTGTGAA	0.308																																																0													55	54	55					14																	96761860		2203	4290	6493	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5177T>A	chr14.hg19:g.96761860A>T	ENSP00000353010:p.Leu1726His		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697600	0.88830	.	.	ENSG00000066739	ENST00000359933	T	0.13657	2.57	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.80332	2.49	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.31613	-0.9937	10	0.54805	T	0.06	.	15.8864	0.79251	1.0:0.0:0.0:0.0	.	1726	Q96BY7	ATG2B_HUMAN	H	1726	ENSP00000353010:L1726H	ENSP00000261834:L370H	L	-	2	0	ATG2B	95831613	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.539000	0.90637	2.223000	0.72356	0.454000	0.30748	CTT		0.308	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		T	96761860	A	T	96761860	3	4	462	1	0	0	0	0	1	0	0	0	1094	72	3	5	1091	5	ATG2B	14	96761860	Missense_Mutation	SNP	A	TCGA-BQ-5886-01A-11D-1589-08	29372435	96761860	10587680	38	25229											
ITGAX	3687	hgsc.bcm.edu	37	16	31371300	31371300	+	Silent	SNP	G	G	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr16:31371300G>A	ENST00000268296.4	+	7	742	c.621G>A	c.(619-621)agG>agA	p.R207R	ITGAX_ENST00000562522.1_Silent_p.R207R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	207	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGGAATTCAGGCGCAGCTCAA	0.522																																																0													103	105	104					16																	31371300		2197	4300	6497	SO:0001819	synonymous_variant	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.621G>A	chr16.hg19:g.31371300G>A			Q8IVA6	Silent	SNP	ENST00000268296.4	hg19	CCDS10711.1																																																																																				0.522	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31371300	G	A	31371300	2	1	462	1	0	0	0	0	0	0	0	1	7891	1194	42	2		2	ITGAX	16	31371300	Silent	SNP	G	TCGA-BQ-5886-01A-11D-1589-08		31371300	58983453	39	25230											
SLC13A5	284111	hgsc.bcm.edu	37	17	6606332	6606332	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr17:6606332T>G	ENST00000433363.2	-	5	906	c.673A>C	c.(673-675)Acc>Ccc	p.T225P	SLC13A5_ENST00000381074.4_Missense_Mutation_p.T182P|SLC13A5_ENST00000293800.6_Missense_Mutation_p.T208P|SLC13A5_ENST00000573648.1_Missense_Mutation_p.T225P	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	225					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCCGTCCCGGTCAGGGTGGCG	0.642																																																0													117	98	105					17																	6606332		2203	4300	6503	SO:0001583	missense	284111			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.673A>C	chr17.hg19:g.6606332T>G	ENSP00000406220:p.Thr225Pro		B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	hg19	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384652	0.82792	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.11169	2.8;2.8	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.40473	0.1118	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.996;0.994;0.994;1.0	D;D;D;D;D	0.97110	0.967;0.945;0.967;0.967;1.0	T	0.48364	-0.9042	10	0.87932	D	0	.	13.806	0.63233	0.0:0.0:0.0:1.0	.	225;182;182;208;225	B7ZLB4;F8W7N2;B7Z4P2;B3KXR0;Q86YT5	.;.;.;.;S13A5_HUMAN	P	225;225;182	ENSP00000406220:T225P;ENSP00000370464:T182P	ENSP00000293800:T225P	T	-	1	0	SLC13A5	6547056	1.000000	0.71417	0.991000	0.47740	0.674000	0.39518	5.844000	0.69430	2.216000	0.71823	0.459000	0.35465	ACC		0.642	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		G	6606332	T	G	6606332	3	3	462	1	0	0	0	0	1	0	0	0	14401	1667	58	5	1065	5	SLC13A5	17	6606332	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08		6606332	74588878	40	25231											
PIK3R5	23533	hgsc.bcm.edu	37	17	8812455	8812455	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr17:8812455A>G	ENST00000447110.1	-	3	264	c.140T>C	c.(139-141)cTg>cCg	p.L47P	PIK3R5_ENST00000581552.1_Missense_Mutation_p.L47P|PIK3R5_ENST00000584803.1_Missense_Mutation_p.L47P	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	47	Heterodimerization. {ECO:0000250}.			L -> Q (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCTGCTGACCAGCTCCTGCAG	0.597																																					NSCLC(18;589 615 7696 20311 50332)											0													29	25	27					17																	8812455		2203	4300	6503	SO:0001583	missense	23533			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.140T>C	chr17.hg19:g.8812455A>G	ENSP00000392812:p.Leu47Pro		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	hg19	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.433132	0.43224	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T;T	0.80123	-1.34;-1.34	5.22	5.22	0.72569	.	0.076071	0.53938	D	0.000052	D	0.83459	0.5259	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.85017	0.0909	10	0.59425	D	0.04	-7.8781	13.6276	0.62176	1.0:0.0:0.0:0.0	.	47	Q8WYR1	PI3R5_HUMAN	P	47	ENSP00000269300:L47P;ENSP00000392812:L47P	ENSP00000269300:L47P	L	-	2	0	PIK3R5	8753180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.181000	0.77682	2.100000	0.63781	0.528000	0.53228	CTG		0.597	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		G	8812455	A	G	8812455	3	3	462	1	0	0	0	0	1	0	0	0	11924	188	7	3	2570	3	PIK3R5	17	8812455	Missense_Mutation	SNP	A	TCGA-BQ-5886-01A-11D-1589-08	2206123	8812455	72382755	41	25232											
KIAA0100	9703	hgsc.bcm.edu	37	17	26948415	26948415	+	Splice_Site	SNP	A	A	G			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr17:26948415A>G	ENST00000528896.2	-	27	5134		c.e27+1		KIAA0100_ENST00000579924.2_5'Flank|KIAA0100_ENST00000389003.3_Splice_Site|KIAA0100_ENST00000544884.1_Splice_Site	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGGAGGGCTGACCTGTGGTTG	0.542																																																0													113	103	106					17																	26948415		2203	4300	6503	SO:0001630	splice_region_variant	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5059+1T>C	chr17.hg19:g.26948415A>G			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Splice_Site	SNP	ENST00000528896.2	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779355	0.70107	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4732	0.67531	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0100	23972542	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.702000	0.91338	2.211000	0.71520	0.402000	0.26972	.		0.542	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	Intron	G	26948415	A	G	26948415	5	3	462	1	0	0	0	0	0	0	1	0	8156	289	10	3	1698	3	KIAA0100	17	26948415	Splice_Site	SNP	A	TCGA-BQ-5886-01A-11D-1589-08	18135960	26948415	54246795	42	25233											
C17orf28	283987	hgsc.bcm.edu	37	17	72954436	72954436	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr17:72954436C>G	ENST00000425042.2	-	11	1455	c.1378G>C	c.(1378-1380)Gac>Cac	p.D460H		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	460					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											ATGAGCAGGTCGGCGTGGGTC	0.667											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													55	43	47					17																	72954436		2203	4300	6503	SO:0001583	missense	283987				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1378G>C	chr17.hg19:g.72954436C>G	ENSP00000413520:p.Asp460His	1141	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	hg19	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918325	0.92249	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90618	0.4557	9	0.87932	D	0	-29.5566	18.1326	0.89606	0.0:1.0:0.0:0.0	.	460	Q8IV36	CQ028_HUMAN	H	232;460;232	.	ENSP00000317795:D232H	D	-	1	0	C17orf28	70466031	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.550000	0.82173	2.284000	0.76573	0.561000	0.74099	GAC		0.667	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		G	72954436	C	G	72954436	3	3	462	1	0	0	0	0	1	0	0	0	1855	884	31	4	1024	4	C17orf28	17	72954436	Missense_Mutation	SNP	C	TCGA-BQ-5886-01A-11D-1589-08	46006021	72954436	8240774	43	25234											
ITGB4	3691	hgsc.bcm.edu	37	17	73752809	73752809	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr17:73752809C>T	ENST00000200181.3	+	37	5109	c.4922C>T	c.(4921-4923)cCc>cTc	p.P1641L	ITGB4_ENST00000449880.2_Missense_Mutation_p.P1624L|ITGB4_ENST00000579662.1_Missense_Mutation_p.P1571L|ITGB4_ENST00000339591.3_Missense_Mutation_p.P1624L|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.P1571L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1641					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGAGCACTCCCAGTGCCCCA	0.667																																																0													53	55	54					17																	73752809		2203	4299	6502	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4922C>T	chr17.hg19:g.73752809C>T	ENSP00000200181:p.Pro1641Leu		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	hg19	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644502	0.47258	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.61627	0.09;0.09;0.09	5.04	5.04	0.67666	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82802	0.5116	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87598	0.2495	10	0.87932	D	0	.	18.7536	0.91823	0.0:1.0:0.0:0.0	.	1624;1571;1641	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	L	1641;1624;1624	ENSP00000200181:P1641L;ENSP00000344079:P1624L;ENSP00000400217:P1624L	ENSP00000200181:P1641L	P	+	2	0	ITGB4	71264404	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.776000	0.85560	2.518000	0.84900	0.462000	0.41574	CCC		0.667	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			T	73752809	C	T	73752809	3	4	462	1	0	0	0	0	1	0	0	0	7899	623	22	2	5227	2	ITGB4	17	73752809	Missense_Mutation	SNP	C	TCGA-BQ-5886-01A-11D-1589-08	798373	73752809	7442401	44	25235											
GADD45B	4616	hgsc.bcm.edu	37	19	2477582	2477582	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr19:2477582T>A	ENST00000215631.4	+	4	698	c.466T>A	c.(466-468)Tct>Act	p.S156T		NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	156					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCTACATCTCTCTTCAGGA	0.552																																																0													39	40	40					19																	2477582		2203	4300	6503	SO:0001583	missense	4616			AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"myeloid differentiation primary response", "growth arrest and DNA-damage-inducible beta"	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.466T>A	chr19.hg19:g.2477582T>A	ENSP00000215631:p.Ser156Thr		A8KAM2|O75960|Q17R46	Missense_Mutation	SNP	ENST00000215631.4	hg19	CCDS32868.1	.	.	.	.	.	.	.	.	.	.	T	2.003	-0.428988	0.04701	.	.	ENSG00000099860	ENST00000215631	T	0.40756	1.02	4.66	-0.362	0.12560	.	0.260085	0.37012	N	0.002300	T	0.15522	0.0374	N	0.24115	0.695	0.58432	D	0.999999	B	0.29716	0.255	B	0.21917	0.037	T	0.29971	-0.9994	10	0.02654	T	1	.	1.0667	0.01612	0.1464:0.2718:0.1505:0.4313	.	156	O75293	GA45B_HUMAN	T	156	ENSP00000215631:S156T	ENSP00000215631:S156T	S	+	1	0	GADD45B	2428582	0.000000	0.05858	0.307000	0.25127	0.709000	0.40893	-1.720000	0.01871	-0.128000	0.11641	0.443000	0.29094	TCT		0.552	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451337.1	NM_015675		A	2477582	T	A	2477582	3	1	462	1	0	0	0	0	1	0	0	0	6184	1551	54	5	480	5	GADD45B	19	2477582	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08		2477582	56651401	45	25236											
S1PR4	8698	hgsc.bcm.edu	37	19	3179456	3179456	+	Silent	SNP	C	C	T			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr19:3179456C>T	ENST00000246115.3	+	1	721	c.666C>T	c.(664-666)ctC>ctT	p.L222L	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	222					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCATGGGCCTCTATGGGGCCA	0.672																																					GBM(82;318 1638 33279 49708)											0													86	93	91					19																	3179456		2203	4300	6503	SO:0001819	synonymous_variant	8698			AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.666C>T	chr19.hg19:g.3179456C>T			D6W612	Silent	SNP	ENST00000246115.3	hg19	CCDS12105.1																																																																																				0.672	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		T	3179456	C	T	3179456	2	4	462	1	0	0	0	0	0	0	0	1	13802	900	32	2		2	S1PR4	19	3179456	Silent	SNP	C	TCGA-BQ-5886-01A-11D-1589-08	701874	3179456	55949527	46	25237											
ZFP14	57677	hgsc.bcm.edu	37	19	36831480	36831481	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr19:36831480_36831481GC>AT	ENST00000270001.7	-	5	1362_1363	c.1247_1248GC>AT	c.(1246-1248)aGC>aAT	p.S416N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CAATATGAATGCTCTGGTGTGA	0.416																																																0																																										SO:0001583	missense	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1247_1248delinsAT	chr19.hg19:g.36831480_36831481delinsAT	ENSP00000270001:p.Ser416Asn		A7MD23	Silent|Missense_Mutation	SNP	ENST00000270001.7	hg19	CCDS33002.1																																																																																				0.416	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		AT	36831481	GC	AT	36831480	3	1	462	1	0	0	0	0	1	0	0	0	17644	1310	46	2	357	2	ZFP14	19	36831480	Missense_Mutation	DNP	GC	TCGA-BQ-5886-01A-11D-1589-08	33652024	36831480	22297503	47	25238											
BCAM	4059	hgsc.bcm.edu	37	19	45322968	45322968	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr19:45322968G>T	ENST00000270233.6	+	13	1770	c.1748G>T	c.(1747-1749)cGg>cTg	p.R583L	BCAM_ENST00000589651.1_Missense_Mutation_p.R583L	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	583					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CGCCAGCGGCGGGAGAAGGGG	0.637																																																0													14	17	16					19																	45322968		2183	4244	6427	SO:0001583	missense	4059			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1748G>T	chr19.hg19:g.45322968G>T	ENSP00000270233:p.Arg583Leu		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	hg19	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	4.697	0.129623	0.08981	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.59772	0.24;0.34	4.08	1.68	0.24146	.	.	.	.	.	T	0.33904	0.0879	N	0.08118	0	0.09310	N	1	B	0.24092	0.097	B	0.15870	0.014	T	0.15521	-1.0434	9	0.30078	T	0.28	-5.8905	10.1318	0.42682	0.0:0.4182:0.5817:0.0	.	583	P50895	BCAM_HUMAN	L	583	ENSP00000270233:R583L;ENSP00000375817:R583L	ENSP00000270233:R583L	R	+	2	0	BCAM	50014808	0.003000	0.15002	0.037000	0.18230	0.042000	0.13812	1.344000	0.33941	0.242000	0.21303	0.531000	0.56144	CGG		0.637	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		T	45322968	G	T	45322968	3	4	462	1	0	0	0	0	1	0	0	0	1344	1116	39	4	1798	4	BCAM	19	45322968	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08	8491488	45322968	13806015	48	25239											
HRC	3270	hgsc.bcm.edu	37	19	49657763	49657763	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr19:49657763T>A	ENST00000252825.4	-	1	918	c.732A>T	c.(730-732)gaA>gaT	p.E244D	HRC_ENST00000595625.1_Missense_Mutation_p.E244D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	244	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.E244E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cgtcatcttcttcatGGCCTT	0.522																																					Melanoma(37;75 1097 24567 25669 30645)											1	Substitution - coding silent(1)	lung(1)											118	85	96					19																	49657763		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.732A>T	chr19.hg19:g.49657763T>A	ENSP00000252825:p.Glu244Asp		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	hg19	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	t	8.405	0.842850	0.16963	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.06294	3.32	3.24	2.17	0.27698	.	.	.	.	.	T	0.07593	0.0191	L	0.57536	1.79	0.09310	N	0.999998	B	0.28820	0.224	B	0.33846	0.171	T	0.37641	-0.9697	9	0.13853	T	0.58	0.3786	7.0233	0.24926	0.0:0.1288:0.0:0.8712	.	244	P23327	SRCH_HUMAN	D	244;214	ENSP00000252825:E244D	ENSP00000252825:E244D	E	-	3	2	HRC	54349575	0.001000	0.12720	0.040000	0.18447	0.049000	0.14656	0.298000	0.19120	1.251000	0.43983	0.375000	0.23000	GAA		0.522	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		A	49657763	T	A	49657763	3	1	462	1	0	0	0	0	1	0	0	0	7354	1606	56	5	1391	5	HRC	19	49657763	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	4334795	49657763	9471220	49	25240											
ZNF543	125919	hgsc.bcm.edu	37	19	57839185	57839185	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr19:57839185delG	ENST00000321545.4	+	4	700	c.355delG	c.(355-357)gggfs	p.G119fs		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTCCCAATTAGGGCAATCCAA	0.512																																																0													64	67	66					19																	57839185		2203	4300	6503	SO:0001589	frameshift_variant	125919			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.355delG	chr19.hg19:g.57839185delG	ENSP00000322545:p.Gly119fs		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Frame_Shift_Del	DEL	ENST00000321545.4	hg19	CCDS33130.1																																																																																				0.512	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		-	57839185	G	-	57839185	7	5	462	1	0	1	0	1	0	0	0	0	17981	1000	35	0	369	0	ZNF543	19	57839185	Frame_Shift_Del	DEL	G	TCGA-BQ-5886-01A-11D-1589-08	8181422	57839185	1289798	50	25241											
PTPRA	5786	hgsc.bcm.edu	37	20	3016279	3016279	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr20:3016279G>T	ENST00000216877.6	+	20	2342	c.1942G>T	c.(1942-1944)Gat>Tat	p.D648Y	PTPRA_ENST00000399903.2_Missense_Mutation_p.D657Y|PTPRA_ENST00000318266.5_Missense_Mutation_p.D648Y|PTPRA_ENST00000356147.3_Missense_Mutation_p.D648Y|PTPRA_ENST00000380393.3_Missense_Mutation_p.D657Y|PTPRA_ENST00000425918.2_Missense_Mutation_p.D668Y|PTPRA_ENST00000358719.4_Missense_Mutation_p.D513Y	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	657	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTCCTATGGAGATATTACAGT	0.532																																																0													106	94	98					20																	3016279		2203	4300	6503	SO:0001583	missense	5786				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1942G>T	chr20.hg19:g.3016279G>T	ENSP00000216877:p.Asp648Tyr		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	hg19	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860550	0.32884	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.57	5.57	0.84162	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	D	0.90597	0.7052	M	0.72353	2.195	0.80722	D	1	P;D;D	0.89917	0.49;1.0;1.0	B;D;D	0.91635	0.143;0.999;0.963	D	0.85912	0.1441	10	0.02654	T	1	.	19.5578	0.95358	0.0:0.0:1.0:0.0	.	668;657;648	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	Y	657;648;657;513;267;668;648;648	ENSP00000369756:D657Y;ENSP00000216877:D648Y;ENSP00000382787:D657Y;ENSP00000351559:D513Y;ENSP00000393553:D668Y;ENSP00000314568:D648Y;ENSP00000348468:D648Y	ENSP00000216877:D648Y	D	+	1	0	PTPRA	2964279	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.869000	0.99810	2.604000	0.88044	0.563000	0.77884	GAT		0.532	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			T	3016279	G	T	3016279	3	4	462	1	0	0	0	0	1	0	0	0	12801	942	33	4	2039	4	PTPRA	20	3016279	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08		3016279	60009241	51	25242											
PARD6B	84612	hgsc.bcm.edu	37	20	49366607	49366607	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr20:49366607T>C	ENST00000371610.2	+	3	944	c.701T>C	c.(700-702)aTg>aCg	p.M234T	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	234	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GTAACAGACATGATGATTGCA	0.433																																																0													124	117	120					20																	49366607		2203	4300	6503	SO:0001583	missense	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.701T>C	chr20.hg19:g.49366607T>C	ENSP00000360672:p.Met234Thr		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	hg19	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659758	0.67586	.	.	ENSG00000124171	ENST00000371610	T	0.27402	1.67	6.02	6.02	0.97574	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56456	-0.7976	10	0.87932	D	0	-60.5095	16.5446	0.84426	0.0:0.0:0.0:1.0	.	234	Q9BYG5	PAR6B_HUMAN	T	234	ENSP00000360672:M234T	ENSP00000360672:M234T	M	+	2	0	PARD6B	48800014	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	5.917000	0.69989	2.311000	0.77944	0.533000	0.62120	ATG		0.433	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		C	49366607	T	C	49366607	3	2	462	1	0	0	0	0	1	0	0	0	11448	1464	51	3	711	3	PARD6B	20	49366607	Missense_Mutation	SNP	T	TCGA-BQ-5886-01A-11D-1589-08	46350328	49366607	13658913	52	25243											
EMID1	129080	hgsc.bcm.edu	37	22	29627008	29627008	+	Splice_Site	SNP	G	G	T			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr22:29627008G>T	ENST00000404820.3	+	6	592		c.e6-1		EMID1_ENST00000404755.3_Splice_Site|EMID1_ENST00000334018.6_Splice_Site|EMID1_ENST00000484039.1_Splice_Site			Q96A84	EMID1_HUMAN	EMI domain containing 1							collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TTCCTCTTCAGATGACCATGC	0.587																																																0													68	65	66					22																	29627008		2203	4300	6503	SO:0001630	splice_region_variant	129080			AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.466-1G>T	chr22.hg19:g.29627008G>T			B0QYK6|Q6ICG1|Q86SS7	Splice_Site	SNP	ENST00000404820.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.270790|1.270790	0.23221|0.23221	.|.	.|.	ENSG00000186998|ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820;ENST00000430127|ENST00000433143	.|.	.|.	.|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64735	.|0.2625	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63537	.|-0.6615	.|4	.|.	.|.	.|.	.|.	13.3293|13.3293	0.60477|0.60477	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|I	-1|1	.|.	.|.	.|R	+|+	.|2	.|0	EMID1|EMID1	27957008|27957008	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.024000|0.024000	0.10985|0.10985	4.969000|4.969000	0.63735|0.63735	2.293000|2.293000	0.77203|0.77203	0.591000|0.591000	0.81541|0.81541	.|AGA		0.587	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455	Intron	T	29627008	G	T	29627008	5	4	462	1	0	0	0	0	0	0	1	0	5093	956	33	4	487	4	EMID1	22	29627008	Splice_Site	SNP	G	TCGA-BQ-5886-01A-11D-1589-08		29627008	21677558	53	25244											
SBF1	6305	hgsc.bcm.edu	37	22	50885659	50885659	+	Missense_Mutation	SNP	G	G	C	rs375012426	byFrequency	TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chr22:50885659G>C	ENST00000390679.3	-	40	5700	c.5516C>G	c.(5515-5517)aCg>aGg	p.T1839R	SBF1_ENST00000380817.3_Missense_Mutation_p.T1865R|SBF1_ENST00000348911.6_Missense_Mutation_p.T1840R			O95248	MTMR5_HUMAN	SET binding factor 1	1839	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AACGCGACGCGTTGTCTTCAC	0.667																																																0													48	59	55					22																	50885659		2096	4202	6298	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.5516C>G	chr22.hg19:g.50885659G>C	ENSP00000375097:p.Thr1839Arg		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.51|17.51	3.408090|3.408090	0.62399|0.62399	.|.	.|.	ENSG00000100241|ENSG00000100241	ENST00000418590|ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	.|T;T;T	.|0.12255	.|2.7;2.7;2.7	3.51|3.51	3.51|3.51	0.40186|0.40186	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26448|0.26448	0.0646|0.0646	L|L	0.31845|0.31845	0.965|0.965	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D	.|0.89917	.|0.959;1.0;0.979	.|P;D;D	.|0.91635	.|0.85;0.999;0.913	T|T	0.06058|0.06058	-1.0848|-1.0848	5|10	.|0.66056	.|D	.|0.02	.|.	15.1872|15.1872	0.73012|0.73012	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1839;1865;386	.|O95248;O95248-4;A6PVG7	.|MTMR5_HUMAN;.;.	K|R	386|1865;1840;1875;1839	.|ENSP00000370196:T1865R;ENSP00000252027:T1840R;ENSP00000375097:T1839R	.|ENSP00000336522:T1875R	N|T	-|-	3|2	2|0	SBF1|SBF1	49232525|49232525	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.777000|0.777000	0.43975|0.43975	2.406000|2.406000	0.44557|0.44557	1.989000|1.989000	0.58080|0.58080	0.462000|0.462000	0.41574|0.41574	AAC|ACG		0.667	SBF1-201	KNOWN	basic	protein_coding	protein_coding				C	50885659	G	C	50885659	3	2	462	1	0	0	0	0	1	0	0	0	13864	1145	40	4	91	4	SBF1	22	50885659	Missense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08	21258651	50885659	418907	54	25245											
EIF2S3	1968	hgsc.bcm.edu	37	X	24089815	24089815	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chrX:24089815C>T	ENST00000253039.4	+	10	1406	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	385					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TCTAGGTGTACGCACTGAAGG	0.403																																																0													37	37	37					X																	24089815		2203	4298	6501	SO:0001583	missense	1968			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.1153C>T	chrX.hg19:g.24089815C>T	ENSP00000253039:p.Arg385Cys		B5BTZ4	Missense_Mutation	SNP	ENST00000253039.4	hg19	CCDS14210.1	.	.	.	.	.	.	.	.	.	.	c	27.8	4.868409	0.91587	.	.	ENSG00000130741	ENST00000253039	T	0.65549	-0.16	4.95	4.95	0.65309	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation initiation factor 2, gamma subunit, C-terminal (1);	0.052313	0.85682	D	0.000000	T	0.78830	0.4345	M	0.91972	3.26	0.80722	D	1	D	0.56746	0.977	P	0.52109	0.69	D	0.85370	0.1113	10	0.87932	D	0	.	17.6111	0.88053	0.0:1.0:0.0:0.0	.	385	P41091	IF2G_HUMAN	C	385	ENSP00000253039:R385C	ENSP00000253039:R385C	R	+	1	0	EIF2S3	23999736	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.363000	0.79516	2.175000	0.68902	0.597000	0.82753	CGC		0.403	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		T	24089815	C	T	24089815	3	4	462	1	0	0	0	0	1	0	0	0	5013	536	19	1	1191	1	EIF2S3	23	24089815	Missense_Mutation	SNP	C	TCGA-BQ-5886-01A-11D-1589-08		24089815	131180745	55	25246											
KDM6A	7403	hgsc.bcm.edu	37	X	44949021	44949021	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-5886-01A-11D-1589-08	TCGA-BQ-5886-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	74be0abf-970a-477d-aa8c-7982e32b739f	9d0a86f4-1735-4a01-8c16-37b05d7bc326	g.chrX:44949021G>A	ENST00000377967.4	+	25	3623	c.3582G>A	c.(3580-3582)tgG>tgA	p.W1194*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W1115*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W1201*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W1149*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1194	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.W1194*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTTCTTGGTGGCCCAATCTTG	0.368			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	7	Whole gene deletion(6)|Substitution - Nonsense(1)	oesophagus(2)|breast(2)|pancreas(2)|urinary_tract(1)											115	98	103					X																	44949021		2203	4300	6503	SO:0001587	stop_gained	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3582G>A	chrX.hg19:g.44949021G>A	ENSP00000367203:p.Trp1194*		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	hg19	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.566749|7.566749	0.98361|0.98361	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.45538|.	0.1347|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42258|.	-0.9462|.	3|.	.|0.02654	.|T	.|1	-5.5328|-5.5328	17.8727|17.8727	0.88815|0.88815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	792;837|891;1194;1149;1201;1115	.|.	.|ENSP00000334340:W891X	A|W	+|+	1|3	0|0	KDM6A|KDM6A	44833965|44833965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.358000|9.358000	0.97109|0.97109	2.153000|2.153000	0.67306|0.67306	0.468000|0.468000	0.43344|0.43344	GCC|TGG		0.368	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		A	44949021	G	A	44949021	4	1	462	1	0	0	0	0	0	1	0	0	8139	1212	42	2	3680	2	KDM6A	23	44949021	Nonsense_Mutation	SNP	G	TCGA-BQ-5886-01A-11D-1589-08	20859206	44949021	110321539	56	25247											
OR2G2	81470	hgsc.bcm.edu	37	1	247751788	247751788	+	Silent	SNP	T	T	C			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr1:247751788T>C	ENST00000320065.1	+	1	127	c.127T>C	c.(127-129)Ttg>Ctg	p.L43L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACTAACTATTTTGGGGAATAC	0.408																																																0													227	217	220					1																	247751788		2203	4300	6503	SO:0001819	synonymous_variant	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.127T>C	chr1.hg19:g.247751788T>C			Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	hg19	CCDS31092.1																																																																																				0.408	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			C	247751788	T	C	247751788	2	2	463	1	0	0	0	0	0	0	0	1	11000	1838	64	3		3	OR2G2	1	247751788	Silent	SNP	T	TCGA-BQ-5887-01A-11D-1961-08		247751788	1498833	1	25248											
CCT4	10575	hgsc.bcm.edu	37	2	62115531	62115531	+	Missense_Mutation	SNP	T	T	C	rs199542002		TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr2:62115531T>C	ENST00000394440.3	-	1	408	c.112A>G	c.(112-114)Att>Gtt	p.I38V	CCT4_ENST00000544185.1_5'UTR|CCT4_ENST00000538252.1_5'UTR|CCT4_ENST00000544079.1_Missense_Mutation_p.I38V|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	38					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			GCGGCGGAAATGTTGCTGAAG	0.677																																																0								T	VAL/ILE	0,4404		0,0,2202	47	43	45		112	3.3	0.8	2		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCT4	NM_006430.2	29	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	38/540	62115531	1,13003	2202	4300	6502	SO:0001583	missense	10575				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.112A>G	chr2.hg19:g.62115531T>C	ENSP00000377958:p.Ile38Val		B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	hg19	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.513788	0.64522	0.0	1.16E-4	ENSG00000115484	ENST00000394440;ENST00000544079	T;T	0.12984	2.63;2.63	4.44	3.27	0.37495	.	0.053328	0.64402	D	0.000001	T	0.14570	0.0352	L	0.36672	1.1	0.80722	D	1	P;P	0.48834	0.916;0.847	P;B	0.47134	0.539;0.399	T	0.01520	-1.1334	10	0.87932	D	0	-12.7568	9.5232	0.39149	0.1581:0.0:0.0:0.8419	.	38;38	F5H5W3;P50991	.;TCPD_HUMAN	V	38	ENSP00000377958:I38V;ENSP00000443061:I38V	ENSP00000377958:I38V	I	-	1	0	CCT4	61969035	1.000000	0.71417	0.823000	0.32752	0.746000	0.42486	5.484000	0.66844	0.722000	0.32252	0.529000	0.55759	ATT		0.677	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			C	62115531	T	C	62115531	3	2	463	1	0	0	0	0	1	0	0	0	2957	1464	51	3	1563	3	CCT4	2	62115531	Missense_Mutation	SNP	T	TCGA-BQ-5887-01A-11D-1961-08		62115531	181083842	2	25249											
ZSWIM2	151112	hgsc.bcm.edu	37	2	187693177	187693177	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr2:187693177T>A	ENST00000295131.2	-	9	1475	c.1436A>T	c.(1435-1437)aAt>aTt	p.N479I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	479					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTTTTTGAATTTGAATTATC	0.299																																																0													36	42	40					2																	187693177		2202	4298	6500	SO:0001583	missense	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1436A>T	chr2.hg19:g.187693177T>A	ENSP00000295131:p.Asn479Ile		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	hg19	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	T	6.741	0.505511	0.12822	.	.	ENSG00000163012	ENST00000295131	T	0.28895	1.59	5.6	1.83	0.25207	.	1.004620	0.08011	N	0.990290	T	0.21186	0.0510	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.36890	-0.9729	10	0.87932	D	0	0.0079	1.3043	0.02085	0.1451:0.1617:0.1507:0.5425	.	479	Q8NEG5	ZSWM2_HUMAN	I	479	ENSP00000295131:N479I	ENSP00000295131:N479I	N	-	2	0	ZSWIM2	187401422	0.045000	0.20229	0.035000	0.18076	0.220000	0.24768	0.733000	0.26087	0.070000	0.16634	-0.376000	0.06991	AAT		0.299	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		A	187693177	T	A	187693177	3	1	463	1	0	0	0	0	1	0	0	0	18246	1493	52	5	469	5	ZSWIM2	2	187693177	Missense_Mutation	SNP	T	TCGA-BQ-5887-01A-11D-1961-08	125577646	187693177	55506196	3	25250											
RCHY1	25898	hgsc.bcm.edu	37	4	76439476	76439476	+	Silent	SNP	T	T	C			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr4:76439476T>C	ENST00000324439.5	-	1	419	c.21A>G	c.(19-21)gaA>gaG	p.E7E	RCHY1_ENST00000451788.1_Silent_p.E7E|THAP6_ENST00000514480.1_5'Flank|RCHY1_ENST00000512706.1_5'UTR|THAP6_ENST00000508105.1_5'Flank|THAP6_ENST00000504190.1_5'Flank|THAP6_ENST00000502620.1_5'Flank|RCHY1_ENST00000514021.1_Intron|THAP6_ENST00000507885.1_5'Flank|THAP6_ENST00000311638.3_5'Flank|RCHY1_ENST00000380840.2_Silent_p.E7E|THAP6_ENST00000507557.1_5'Flank|THAP6_ENST00000507556.1_5'Flank|THAP6_ENST00000380837.3_5'Flank|RCHY1_ENST00000513257.1_Silent_p.E7E	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	7					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TGGCGCCATCTTCCCGGGCCG	0.602																																																0													78	69	72					4																	76439476		2203	4300	6503	SO:0001819	synonymous_variant	25898			AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"RING-type (C3HC4) zinc fingers"	17479	protein-coding gene	gene with protein product	"androgen-receptor N-terminal-interacting protein", "p53-induced protein with a RING-H2 domain", "zinc finger, CHY-type"	607680	"zinc finger protein 363", "ring finger and CHY zinc finger domain containing 1"	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.21A>G	chr4.hg19:g.76439476T>C			B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Silent	SNP	ENST00000324439.5	hg19	CCDS3567.1																																																																																				0.602	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		C	76439476	T	C	76439476	2	2	463	1	0	0	0	0	0	0	0	1	13183	1606	56	3		3	RCHY1	4	76439476	Silent	SNP	T	TCGA-BQ-5887-01A-11D-1961-08		76439476	114714800	4	25251											
GPR98	84059	hgsc.bcm.edu	37	5	90052799	90052799	+	Missense_Mutation	SNP	G	G	A	rs200576500	byFrequency	TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr5:90052799G>A	ENST00000405460.2	+	57	11857	c.11761G>A	c.(11761-11763)Gct>Act	p.A3921T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3921	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTAAAGGGCGCTGGGGAAGT	0.388													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16046	0.0		0.0	False		,,,				2504	0.0															0								G	THR/ALA	5,3673		0,5,1834	77	75	76		11761	2.3	0.1	5		76	0,8158		0,0,4079	yes	missense	GPR98	NM_032119.3	58	0,5,5913	AA,AG,GG		0.0,0.1359,0.0422	benign	3921/6307	90052799	5,11831	1839	4079	5918	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11761G>A	chr5.hg19:g.90052799G>A	ENSP00000384582:p.Ala3921Thr		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	0.526	-0.860029	0.02610	0.001359	0.0	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27256	1.68	5.3	2.27	0.28462	Na-Ca exchanger/integrin-beta4 (1);	0.732108	0.13525	N	0.381387	T	0.11879	0.0289	N	0.14661	0.345	0.22050	N	0.999396	B;B	0.23058	0.079;0.013	B;B	0.10450	0.005;0.002	T	0.25012	-1.0144	10	0.25751	T	0.34	.	4.1082	0.10047	0.2731:0.3558:0.3711:0.0	.	3921;3921	E7ETI5;Q8WXG9	.;GPR98_HUMAN	T	3921	ENSP00000384582:A3921T	ENSP00000296619:A3921T	A	+	1	0	GPR98	90088555	0.001000	0.12720	0.090000	0.20809	0.015000	0.08874	-0.111000	0.10807	0.694000	0.31654	0.467000	0.42956	GCT		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	90052799	G	A	90052799	3	1	463	1	0	0	0	0	1	0	0	0	6723	1087	38	1	11987	1	GPR98	5	90052799	Missense_Mutation	SNP	G	TCGA-BQ-5887-01A-11D-1961-08		90052799	90862461	5	25252											
KDM3B	51780	hgsc.bcm.edu	37	5	137766032	137766032	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr5:137766032A>G	ENST00000314358.5	+	22	5188	c.4988A>G	c.(4987-4989)tAt>tGt	p.Y1663C	KDM3B_ENST00000394866.1_Missense_Mutation_p.Y1319C|KDM3B_ENST00000542866.1_Missense_Mutation_p.Y695C	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1663	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAGCGACTCTATGAGGAGTAT	0.542																																																0													146	136	140					5																	137766032		2203	4300	6503	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4988A>G	chr5.hg19:g.137766032A>G	ENSP00000326563:p.Tyr1663Cys		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	hg19	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178274	0.78564	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.70631	-0.5;-0.5;-0.5	5.71	4.51	0.55191	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.056809	0.64402	D	0.000001	T	0.72550	0.3474	L	0.41824	1.3	0.58432	D	0.999997	P;P	0.46457	0.878;0.786	P;P	0.54544	0.575;0.755	T	0.72181	-0.4368	10	0.51188	T	0.08	-12.6174	11.8878	0.52613	0.8691:0.0:0.0:0.1309	.	1319;1663	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	C	1663;1453;1319;695	ENSP00000326563:Y1663C;ENSP00000378335:Y1319C;ENSP00000439462:Y695C	ENSP00000326563:Y1663C	Y	+	2	0	KDM3B	137793931	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.941000	0.63540	0.939000	0.37446	0.533000	0.62120	TAT		0.542	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		G	137766032	A	G	137766032	3	3	463	1	0	0	0	0	1	0	0	0	8129	449	16	3	5074	3	KDM3B	5	137766032	Missense_Mutation	SNP	A	TCGA-BQ-5887-01A-11D-1961-08	47713233	137766032	43149228	6	25253											
C6orf211	79624	hgsc.bcm.edu	37	6	151789725	151789725	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr6:151789725T>G	ENST00000367294.3	+	5	1065	c.806T>G	c.(805-807)tTg>tGg	p.L269W	C6orf211_ENST00000545879.1_Missense_Mutation_p.L150W	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	269										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GCCGACTTCTTGTTGTCCTCT	0.328																																																0													132	138	136					6																	151789725		2203	4300	6503	SO:0001583	missense	79624			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.806T>G	chr6.hg19:g.151789725T>G	ENSP00000356263:p.Leu269Trp		Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	hg19	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593869	0.86953	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.23552	1.9;1.9	6.02	6.02	0.97574	Domain of unknown function DUF89 (2);	0.141422	0.45126	D	0.000394	T	0.59959	0.2232	H	0.95884	3.735	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.74682	-0.3583	10	0.87932	D	0	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	269	Q9H993	CF211_HUMAN	W	269;150	ENSP00000356263:L269W;ENSP00000444121:L150W	ENSP00000356263:L269W	L	+	2	0	C6orf211	151831418	1.000000	0.71417	0.087000	0.20705	0.990000	0.78478	7.963000	0.87922	2.299000	0.77371	0.528000	0.53228	TTG		0.328	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		G	151789725	T	G	151789725	3	3	463	1	0	0	0	0	1	0	0	0	2356	1821	63	5	824	5	C6orf211	6	151789725	Missense_Mutation	SNP	T	TCGA-BQ-5887-01A-11D-1961-08		151789725	19325342	7	25254											
COL28A1	340267	hgsc.bcm.edu	37	7	7412962	7412963	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr7:7412962_7412963CC>AT	ENST00000399429.3	-	32	2714_2715	c.2574_2575GG>AT	c.(2572-2577)aaGGat>aaATat	p.D859Y		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	859	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGAAGTCATCCTTGCTGGAGA	0.515																																																0																																										SO:0001583	missense	340267			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2574_2575delinsAT	chr7.hg19:g.7412962_7412963delinsAT	ENSP00000382356:p.Asp859Tyr		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation|Silent	SNP	ENST00000399429.3	hg19	CCDS43553.1																																																																																				0.515	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		AT	7412963	CC	AT	7412962	3	1	463	1	0	0	0	0	1	0	0	0	3688	855	30	4	818	4	COL28A1	7	7412962	Missense_Mutation	DNP	CC	TCGA-BQ-5887-01A-11D-1961-08		7412962	151725701	8	25255											
SVIL	6840	hgsc.bcm.edu	37	10	29788191	29788191	+	Splice_Site	SNP	C	C	A	rs372472784		TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr10:29788191C>A	ENST00000355867.4	-	18	4270	c.3518G>T	c.(3517-3519)cGg>cTg	p.R1173L	SVIL_ENST00000535393.1_Splice_Site_p.R87L|SVIL_ENST00000375398.2_Splice_Site_p.R1173L|SVIL_ENST00000375400.3_Splice_Site_p.R747L|SVIL_ENST00000538146.1_5'Flank	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1173					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCTGTGACCCGCTGTTCATA	0.507																																																0													79	68	72					10																	29788191		2203	4300	6503	SO:0001630	splice_region_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3517-1G>T	chr10.hg19:g.29788191C>A			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	hg19	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156495	0.38119	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994	T;T;T;T	0.14266	2.63;2.66;2.66;2.52	4.13	2.28	0.28536	.	0.324362	0.34853	N	0.003624	T	0.17195	0.0413	M	0.68952	2.095	0.80722	D	1	B;P;B	0.41159	0.403;0.74;0.38	B;B;B	0.41374	0.119;0.355;0.274	T	0.02042	-1.1224	10	0.59425	D	0.04	-10.9371	10.3423	0.43887	0.0:0.8378:0.0:0.1622	.	87;747;1173	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	L	747;1173;1173;87;127	ENSP00000364549:R747L;ENSP00000364547:R1173L;ENSP00000348128:R1173L;ENSP00000445472:R87L	ENSP00000348128:R1173L	R	-	2	0	SVIL	29828197	0.999000	0.42202	0.998000	0.56505	0.608000	0.37181	2.104000	0.41815	0.417000	0.25871	-1.100000	0.02121	CGG		0.507	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		Missense_Mutation	A	29788191	C	A	29788191	5	1	463	1	0	0	0	0	0	0	1	0	15426	666	23	4	3210	4	SVIL	10	29788191	Splice_Site	SNP	C	TCGA-BQ-5887-01A-11D-1961-08		29788191	105746556	9	25256											
AKAP3	10566	hgsc.bcm.edu	37	12	4736579	4736579	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr12:4736579G>C	ENST00000545990.2	-	5	2013	c.1489C>G	c.(1489-1491)Cct>Gct	p.P497A	AKAP3_ENST00000228850.1_Missense_Mutation_p.P497A|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	497					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ATATCTTCAGGGTACTCAAAG	0.463																																																0													67	64	65					12																	4736579		2203	4300	6503	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1489C>G	chr12.hg19:g.4736579G>C	ENSP00000440994:p.Pro497Ala		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	hg19	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	0.811	-0.752022	0.03041	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.11821	2.74;2.74	4.5	-1.34	0.09143	A-kinase anchor 110kDa, C-terminal (1);	0.887861	0.09758	N	0.759675	T	0.13457	0.0326	M	0.68317	2.08	0.09310	N	1	B	0.29481	0.245	B	0.32090	0.14	T	0.40194	-0.9576	10	0.72032	D	0.01	0.0048	1.207	0.01896	0.1864:0.1329:0.362:0.3187	.	497	O75969	AKAP3_HUMAN	A	497	ENSP00000228850:P497A;ENSP00000440994:P497A	ENSP00000228850:P497A	P	-	1	0	AKAP3	4606840	0.215000	0.23574	0.000000	0.03702	0.001000	0.01503	1.832000	0.39151	-0.187000	0.10516	-0.136000	0.14681	CCT		0.463	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		C	4736579	G	C	4736579	3	2	463	1	0	0	0	0	1	0	0	0	452	1232	43	4	1080	4	AKAP3	12	4736579	Missense_Mutation	SNP	G	TCGA-BQ-5887-01A-11D-1961-08		4736579	129115316	10	25257											
ATXN2	6311	hgsc.bcm.edu	37	12	111923516	111923516	+	Splice_Site	SNP	C	C	A			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr12:111923516C>A	ENST00000377617.3	-	17	3099		c.e17+1		AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000542287.2_Splice_Site|ATXN2_ENST00000389153.4_Splice_Site|ATXN2_ENST00000550104.1_Splice_Site|ATXN2_ENST00000535949.1_Splice_Site|ATXN2_ENST00000608853.1_Splice_Site	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2						cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTATGACTTACTTGCACGCCT	0.438																																																0													165	142	150					12																	111923516		2203	4300	6503	SO:0001630	splice_region_variant	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2937+1G>T	chr12.hg19:g.111923516C>A			A6NLD4|Q6ZQZ7|Q99493	Splice_Site	SNP	ENST00000377617.3	hg19	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146986	0.77888	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8673	0.96808	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATXN2	110407899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.076000	0.71267	2.709000	0.92574	0.655000	0.94253	.		0.438	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	Intron	A	111923516	C	A	111923516	5	1	463	1	0	0	0	0	0	0	1	0	1211	579	20	4	1039	4	ATXN2	12	111923516	Splice_Site	SNP	C	TCGA-BQ-5887-01A-11D-1961-08	107186937	111923516	21928379	11	25258											
FLII	2314	hgsc.bcm.edu	37	17	18149935	18149935	+	Silent	SNP	G	G	A			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr17:18149935G>A	ENST00000327031.4	-	23	3249	c.3024C>T	c.(3022-3024)ttC>ttT	p.F1008F	FLII_ENST00000545457.2_Silent_p.F953F|FLII_ENST00000579294.1_Silent_p.F997F|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Silent_p.F922F	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1008					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					AGAGGCTCTCGAACTTCTTTT	0.627																																																0													60	53	56					17																	18149935		2203	4300	6503	SO:0001819	synonymous_variant	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3024C>T	chr17.hg19:g.18149935G>A			B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	hg19	CCDS11192.1																																																																																				0.627	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		A	18149935	G	A	18149935	2	1	463	1	0	0	0	0	0	0	0	1	5927	1049	37	1		1	FLII	17	18149935	Silent	SNP	G	TCGA-BQ-5887-01A-11D-1961-08		18149935	63045275	12	25259											
FDXR	2232	hgsc.bcm.edu	37	17	72860612	72860612	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr17:72860612G>C	ENST00000293195.5	-	8	870	c.792C>G	c.(790-792)gaC>gaG	p.D264E	FDXR_ENST00000420580.2_Missense_Mutation_p.D224E|FDXR_ENST00000583917.1_Intron|FDXR_ENST00000442102.2_Missense_Mutation_p.D307E|FDXR_ENST00000455107.2_Missense_Mutation_p.D220E|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000544854.1_Missense_Mutation_p.D212E|FDXR_ENST00000413947.2_Missense_Mutation_p.D295E|FDXR_ENST00000581530.1_Missense_Mutation_p.D270E|FDXR_ENST00000582944.1_Missense_Mutation_p.D256E	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	264					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CCTTGATCTTGTCCTGGAGAC	0.612											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													42	47	45					17																	72860612		2203	4300	6503	SO:0001583	missense	2232			J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.792C>G	chr17.hg19:g.72860612G>C	ENSP00000293195:p.Asp264Glu	1140	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	hg19	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.556819	0.00910	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	4.65	2.43	0.29744	.	0.279368	0.40554	N	0.001071	T	0.04724	0.0128	N	0.04162	-0.26	0.33484	D	0.587776	B;B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.09377	0.004;0.003;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.31613	-0.9937	10	0.05351	T	0.99	-16.3668	2.2561	0.04055	0.1249:0.3442:0.3522:0.1788	.	224;307;295;262;212;264;256;264;270	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;ADRO_HUMAN;.	E	224;212;270;220;307;295	ENSP00000414172:D224E;ENSP00000445432:D212E;ENSP00000390875:D220E;ENSP00000416515:D307E;ENSP00000408595:D295E	ENSP00000293195:D270E	D	-	3	2	FDXR	70372207	0.964000	0.33143	1.000000	0.80357	0.295000	0.27426	0.151000	0.16283	0.910000	0.36722	0.561000	0.74099	GAC		0.612	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		C	72860612	G	C	72860612	3	2	463	1	0	0	0	0	1	0	0	0	5809	1368	48	4	703	4	FDXR	17	72860612	Missense_Mutation	SNP	G	TCGA-BQ-5887-01A-11D-1961-08	54710677	72860612	8334598	13	25260											
RNMT	8731	hgsc.bcm.edu	37	18	13731629	13731630	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr18:13731629_13731630insT	ENST00000383314.2	+	3	353_354	c.113_114insT	c.(112-117)gcttctfs	p.S39fs	RNMT_ENST00000592764.1_Frame_Shift_Ins_p.S39fs|RNMT_ENST00000262173.3_Frame_Shift_Ins_p.S39fs|RNMT_ENST00000589866.1_Frame_Shift_Ins_p.S39fs|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000543302.2_Frame_Shift_Ins_p.S39fs			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	39					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AACACAACAGCTTCTGGGACTG	0.371																																					GBM(29;474 594 19092 36647 41529)											0																																										SO:0001589	frameshift_variant	8731			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.115dupT	chr18.hg19:g.13731631_13731631dupT	ENSP00000372804:p.Ser39fs		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Frame_Shift_Ins	INS	ENST00000383314.2	hg19	CCDS11867.1																																																																																				0.371	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		T	13731630	-	T	13731629	7	5	463	1	0	1	1	0	0	0	0	0	13512	797	28	0	115	0	RNMT	18	13731629	Frame_Shift_Ins	INS	-	TCGA-BQ-5887-01A-11D-1961-08		13731629	64345619	14	25261											
NLRP7	199713	hgsc.bcm.edu	37	19	55452315	55452315	+	Silent	SNP	C	C	T			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr19:55452315C>T	ENST00000590030.1	-	2	376	c.336G>A	c.(334-336)tcG>tcA	p.S112S	NLRP7_ENST00000446217.1_Silent_p.S140S|NLRP7_ENST00000592784.1_Silent_p.S112S|NLRP7_ENST00000448121.2_Silent_p.S112S|NLRP7_ENST00000588756.1_Silent_p.S112S|NLRP7_ENST00000340844.2_Silent_p.S112S|NLRP7_ENST00000328092.5_Silent_p.S112S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	112							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTGCTAACTCCGAGTCTTCTT	0.433																																																0													239	189	206					19																	55452315		2203	4300	6503	SO:0001819	synonymous_variant	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.336G>A	chr19.hg19:g.55452315C>T			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	hg19	CCDS33109.1																																																																																				0.433	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		T	55452315	C	T	55452315	2	4	463	1	0	0	0	0	0	0	0	1	10484	639	23	1		1	NLRP7	19	55452315	Silent	SNP	C	TCGA-BQ-5887-01A-11D-1961-08		55452315	3676668	15	25262											
PRIC285	85441	hgsc.bcm.edu	37	20	62198513	62198513	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5887-01A-11D-1961-08	TCGA-BQ-5887-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1bd98e6b-f43c-424d-9d69-f2653ae70618	84765358-2446-4447-ab14-94b835dc736b	g.chr20:62198513C>T	ENST00000467148.1	-	6	2267	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q	HELZ2_ENST00000427522.2_Missense_Mutation_p.R164Q|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	733	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCGGCTCTGCCGCGCCACCTC	0.662																																																0													42	45	44					20																	62198513		2201	4296	6497	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2198G>A	chr20.hg19:g.62198513C>T	ENSP00000417401:p.Arg733Gln		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	hg19	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.354760	0.01256	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.92199	-2.99;-2.99	5.06	-10.1	0.00402	.	1.876900	0.02583	N	0.099118	T	0.75027	0.3794	N	0.04880	-0.145	0.09310	N	1	B;B	0.16603	0.018;0.014	B;B	0.06405	0.002;0.001	T	0.70296	-0.4911	10	0.05959	T	0.93	-12.0678	6.0815	0.19944	0.1162:0.2139:0.0711:0.5987	.	733;164	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	Q	164;733	ENSP00000393257:R164Q;ENSP00000417401:R733Q	ENSP00000393257:R164Q	R	-	2	0	RP4-697K14.7	61668957	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.789000	0.04609	-1.726000	0.01370	-1.028000	0.02416	CGG		0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		T	62198513	C	T	62198513	3	4	463	1	0	0	0	0	1	0	0	0	12490	652	23	1	5807	1	PRIC285	20	62198513	Missense_Mutation	SNP	C	TCGA-BQ-5887-01A-11D-1961-08		62198513	827007	16	25263											
KHDRBS1	10657	hgsc.bcm.edu	37	1	32508212	32508212	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr1:32508212A>G	ENST00000327300.7	+	9	1486	c.1319A>G	c.(1318-1320)tAt>tGt	p.Y440C	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.Y401C|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGCACCCATATGGACGTTAT	0.483																																					Ovarian(173;401 1982 12359 31110 42403)											0													59	57	58					1																	32508212		2203	4300	6503	SO:0001583	missense	10657			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"GAP-associated tyrosine phosphoprotein p62 (Sam68)"	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1319A>G	chr1.hg19:g.32508212A>G	ENSP00000313829:p.Tyr440Cys			Missense_Mutation	SNP	ENST00000327300.7	hg19	CCDS350.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.382684	0.42207	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.71103	-0.54;-0.51	5.85	4.72	0.59763	.	0.057453	0.64402	D	0.000001	T	0.81735	0.4885	M	0.78456	2.415	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.63192	0.819;0.912	D	0.83637	0.0148	10	0.87932	D	0	.	12.1125	0.53848	0.9331:0.0:0.0668:0.0	.	440;401	Q07666;Q07666-3	KHDR1_HUMAN;.	C	440;401;416	ENSP00000313829:Y440C;ENSP00000417731:Y401C	ENSP00000313829:Y440C	Y	+	2	0	KHDRBS1	32280799	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.716000	0.91420	1.156000	0.42514	-0.256000	0.11100	TAT		0.483	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		G	32508212	A	G	32508212	3	3	464	1	0	0	0	0	1	0	0	0	8148	449	16	3	1353	3	KHDRBS1	1	32508212	Missense_Mutation	SNP	A	TCGA-BQ-5888-01A-11D-1589-08		32508212	216742409	1	25264											
TTLL7	79739	hgsc.bcm.edu	37	1	84348653	84348653	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr1:84348653T>C	ENST00000260505.8	-	20	2913	c.2536A>G	c.(2536-2538)Aat>Gat	p.N846D	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	846					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TACCTGGAATTACCCCAGTCA	0.398																																																0													156	150	152					1																	84348653		2203	4300	6503	SO:0001583	missense	79739			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2536A>G	chr1.hg19:g.84348653T>C	ENSP00000260505:p.Asn846Asp		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	hg19	CCDS690.2	.	.	.	.	.	.	.	.	.	.	T	11.08	1.532905	0.27387	.	.	ENSG00000137941	ENST00000260505	T	0.03004	4.08	5.5	1.79	0.24919	.	0.504331	0.23351	N	0.049127	T	0.00468	0.0015	N	0.04880	-0.145	0.28908	N	0.892872	B	0.06786	0.001	B	0.04013	0.001	T	0.44711	-0.9310	10	0.12766	T	0.61	.	3.8611	0.08996	0.0:0.188:0.414:0.398	.	846	Q6ZT98	TTLL7_HUMAN	D	846	ENSP00000260505:N846D	ENSP00000260505:N846D	N	-	1	0	TTLL7	84121241	1.000000	0.71417	0.971000	0.41717	0.928000	0.56348	3.636000	0.54317	0.417000	0.25871	-0.321000	0.08615	AAT		0.398	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		C	84348653	T	C	84348653	3	2	464	1	0	0	0	0	1	0	0	0	16737	1754	61	3	135	3	TTLL7	1	84348653	Missense_Mutation	SNP	T	TCGA-BQ-5888-01A-11D-1589-08	51840441	84348653	164901968	2	25265											
CFH	3075	hgsc.bcm.edu	37	1	196706023	196706023	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr1:196706023A>T	ENST00000367429.4	+	16	2723	c.2483A>T	c.(2482-2484)aAt>aTt	p.N828I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	828	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACCACACTGAATTATCGGGAT	0.333																																																0													65	62	63					1																	196706023		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2483A>T	chr1.hg19:g.196706023A>T	ENSP00000356399:p.Asn828Ile		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	hg19	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	12.36	1.913921	0.33815	.	.	ENSG00000000971	ENST00000367429	T	0.65732	-0.17	5.91	3.6	0.41247	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.69735	0.3144	M	0.73372	2.23	0.80722	D	1	D	0.60160	0.987	P	0.59357	0.856	T	0.68217	-0.5467	9	0.42905	T	0.14	.	6.5067	0.22198	0.7623:0.1583:0.0794:0.0	.	828	P08603	CFAH_HUMAN	I	828	ENSP00000356399:N828I	ENSP00000356399:N828I	N	+	2	0	CFH	194972646	0.999000	0.42202	0.929000	0.37066	0.092000	0.18411	1.560000	0.36331	1.049000	0.40321	0.454000	0.30748	AAT		0.333	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		T	196706023	A	T	196706023	3	4	464	1	0	0	0	0	1	0	0	0	3285	101	4	5	2563	5	CFH	1	196706023	Missense_Mutation	SNP	A	TCGA-BQ-5888-01A-11D-1589-08	112357370	196706023	52544598	3	25266											
DIS3L2	129563	hgsc.bcm.edu	37	2	233075106	233075106	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr2:233075106C>G	ENST00000409307.1	+	9	1195	c.1195C>G	c.(1195-1197)Ctc>Gtc	p.L399V	DIS3L2_ENST00000273009.6_Missense_Mutation_p.L399V|DIS3L2_ENST00000325385.7_Missense_Mutation_p.L399V					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTGCAAGCCACTCGCTGACGG	0.512																																																0													97	98	98					2																	233075106		2074	4234	6308	SO:0001583	missense	129563			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1195C>G	chr2.hg19:g.233075106C>G	ENSP00000386799:p.Leu399Val			Missense_Mutation	SNP	ENST00000409307.1	hg19	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954379	0.73902	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.16	5.16	0.70880	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.79693	2.465	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.67409	-0.5678	10	0.72032	D	0.01	-16.4035	15.5539	0.76177	0.0:1.0:0.0:0.0	.	399	Q8IYB7	DI3L2_HUMAN	V	399;399;399;399;399;34	ENSP00000273009:L399V;ENSP00000315569:L399V;ENSP00000386799:L399V;ENSP00000415419:L34V	ENSP00000273009:L399V	L	+	1	0	DIS3L2	232783350	0.994000	0.37717	0.445000	0.26908	0.945000	0.59286	3.829000	0.55760	2.381000	0.81170	0.455000	0.32223	CTC		0.512	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		G	233075106	C	G	233075106	3	3	464	1	0	0	0	0	1	0	0	0	4539	565	20	4	1229	4	DIS3L2	2	233075106	Missense_Mutation	SNP	C	TCGA-BQ-5888-01A-11D-1589-08		233075106	10124267	4	25267											
OTOL1	131149	hgsc.bcm.edu	37	3	161221062	161221062	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr3:161221062A>G	ENST00000327928.4	+	4	766	c.766A>G	c.(766-768)Aaa>Gaa	p.K256E		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	256	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAAAGGACAGAAAGGTGAGGG	0.582																																																0													6	6	6					3																	161221062		1882	4058	5940	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.766A>G	chr3.hg19:g.161221062A>G	ENSP00000330808:p.Lys256Glu			Missense_Mutation	SNP	ENST00000327928.4	hg19	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.600002	0.46318	.	.	ENSG00000182447	ENST00000327928	D	0.93247	-3.19	4.79	3.6	0.41247	.	0.260709	0.36519	N	0.002555	D	0.93713	0.7991	M	0.74546	2.27	0.09310	N	1	D	0.53619	0.961	P	0.52957	0.714	D	0.86251	0.1649	10	0.22109	T	0.4	.	10.4489	0.44509	0.836:0.164:0.0:0.0	.	256	A6NHN0	OTOL1_HUMAN	E	256	ENSP00000330808:K256E	ENSP00000330808:K256E	K	+	1	0	OTOL1	162703756	0.044000	0.20184	0.039000	0.18376	0.750000	0.42670	2.908000	0.48750	0.649000	0.30751	0.455000	0.32223	AAA		0.582	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		G	161221062	A	G	161221062	3	3	464	1	0	0	0	0	1	0	0	0	11306	247	9	3	780	3	OTOL1	3	161221062	Missense_Mutation	SNP	A	TCGA-BQ-5888-01A-11D-1589-08		161221062	36801368	5	25268											
WASF1	8936	hgsc.bcm.edu	37	6	110424747	110424747	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr6:110424747C>A	ENST00000392589.1	-	9	1563	c.727G>T	c.(727-729)Gtg>Ttg	p.V243L	WASF1_ENST00000392588.1_Missense_Mutation_p.V243L|WASF1_ENST00000359451.2_Missense_Mutation_p.V243L|WASF1_ENST00000392586.1_Missense_Mutation_p.V243L|WASF1_ENST00000392587.2_Missense_Mutation_p.V243L	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	243					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		ATATGATCCACGTATGTCTGA	0.358																																																0													100	92	95					6																	110424747		2203	4300	6503	SO:0001583	missense	8936			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.727G>T	chr6.hg19:g.110424747C>A	ENSP00000376368:p.Val243Leu		E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	hg19	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612405	0.46631	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.51	5.51	0.81932	.	0.213000	0.48286	D	0.000185	T	0.12263	0.0298	N	0.08118	0	0.34639	D	0.720416	B	0.14012	0.009	B	0.09377	0.004	T	0.07366	-1.0776	10	0.10902	T	0.67	.	19.7791	0.96410	0.0:1.0:0.0:0.0	.	243	Q92558	WASF1_HUMAN	L	243	ENSP00000376365:V243L;ENSP00000376366:V243L;ENSP00000376368:V243L;ENSP00000376367:V243L;ENSP00000352425:V243L	ENSP00000352425:V243L	V	-	1	0	WASF1	110531440	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.456000	0.60081	2.763000	0.94921	0.650000	0.86243	GTG		0.358	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		A	110424747	C	A	110424747	3	1	464	1	0	0	0	0	1	0	0	0	17257	536	19	4	964	4	WASF1	6	110424747	Missense_Mutation	SNP	C	TCGA-BQ-5888-01A-11D-1589-08		110424747	60690320	6	25269											
PTPRZ1	5803	hgsc.bcm.edu	37	7	121681010	121681010	+	Silent	SNP	G	G	A			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr7:121681010G>A	ENST00000393386.2	+	21	6189	c.5778G>A	c.(5776-5778)gtG>gtA	p.V1926V	PTPRZ1_ENST00000449182.1_Silent_p.V1059V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1926	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCCATGCAGTGGGGCCTGTTG	0.498																																																0													74	66	69					7																	121681010		2203	4300	6503	SO:0001819	synonymous_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5778G>A	chr7.hg19:g.121681010G>A			A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	hg19	CCDS34740.1																																																																																				0.498	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121681010	G	A	121681010	2	1	464	1	0	0	0	0	0	0	0	1	12820	1335	47	2		2	PTPRZ1	7	121681010	Silent	SNP	G	TCGA-BQ-5888-01A-11D-1589-08		121681010	37457653	7	25270											
MTBP	27085	hgsc.bcm.edu	37	8	121518998	121518998	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr8:121518998C>T	ENST00000305949.1	+	16	1825	c.1780C>T	c.(1780-1782)Cct>Tct	p.P594S		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	594	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CAAAGAGGGTCCTCGGGACTC	0.398																																																0													83	79	80					8																	121518998		2203	4300	6503	SO:0001583	missense	27085				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1780C>T	chr8.hg19:g.121518998C>T	ENSP00000303398:p.Pro594Ser		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	hg19	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586138	0.28268	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.44	4.55	0.56014	.	0.197586	0.44902	D	0.000417	T	0.49047	0.1534	L	0.60455	1.87	0.32183	N	0.58014	P	0.38078	0.617	B	0.33960	0.173	T	0.61978	-0.6951	9	0.46703	T	0.11	-8.4215	15.931	0.79659	0.0:0.8506:0.1494:0.0	.	594	Q96DY7	MTBP_HUMAN	S	594	.	ENSP00000303398:P594S	P	+	1	0	MTBP	121588179	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	2.735000	0.47377	1.267000	0.44247	0.563000	0.77884	CCT		0.398	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		T	121518998	C	T	121518998	3	4	464	1	0	0	0	0	1	0	0	0	9914	855	30	2	1842	2	MTBP	8	121518998	Missense_Mutation	SNP	C	TCGA-BQ-5888-01A-11D-1589-08		121518998	24845024	8	25271											
CAMK1D	57118	hgsc.bcm.edu	37	10	12811756	12811756	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr10:12811756G>A	ENST00000378847.3	+	5	860	c.523G>A	c.(523-525)Gga>Aga	p.G175R	CAMK1D_ENST00000378845.1_Missense_Mutation_p.G175R	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGAGGGCAAAGGAGATGTGAT	0.458																																																0													177	140	153					10																	12811756		2203	4300	6503	SO:0001583	missense	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.523G>A	chr10.hg19:g.12811756G>A	ENSP00000368124:p.Gly175Arg		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	hg19	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892484	0.91889	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.65364	-0.15;-0.15	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115496	0.64402	D	0.000017	T	0.68796	0.3040	N	0.25060	0.705	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.79784	0.993;0.987	T	0.71912	-0.4449	10	0.52906	T	0.07	-14.2799	17.7041	0.88303	0.0:0.0:1.0:0.0	.	175;175	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	R	175	ENSP00000368124:G175R;ENSP00000368122:G175R	ENSP00000368122:G175R	G	+	1	0	CAMK1D	12851762	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.950000	0.87804	2.403000	0.81681	0.561000	0.74099	GGA		0.458	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		A	12811756	G	A	12811756	3	1	464	1	0	0	0	0	1	0	0	0	2599	1001	35	2	541	2	CAMK1D	10	12811756	Missense_Mutation	SNP	G	TCGA-BQ-5888-01A-11D-1589-08		12811756	122722991	9	25272											
MUC5B	727897	hgsc.bcm.edu	37	11	1253260	1253260	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr11:1253260C>A	ENST00000529681.1	+	15	1771	c.1713C>A	c.(1711-1713)gaC>gaA	p.D571E	MUC5B_ENST00000447027.1_Missense_Mutation_p.D574E	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	571	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCAGGCTGACGACTTCACGG	0.672																																																0													42	50	48					11																	1253260		2049	4192	6241	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1713C>A	chr11.hg19:g.1253260C>A	ENSP00000436812:p.Asp571Glu		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254981	0.22965	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.65364	-0.15;-0.15	3.77	-5.54	0.02544	von Willebrand factor, type D domain (3);	.	.	.	.	D	0.83982	0.5372	H	0.98314	4.2	0.36992	D	0.894823	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.984;0.996;0.996	D	0.86512	0.1810	9	0.87932	D	0	.	12.6531	0.56772	0.0:0.2249:0.0:0.7751	.	571;1230;574	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	E	571;574;572;607	ENSP00000436812:D571E;ENSP00000415793:D574E	ENSP00000343037:D572E	D	+	3	2	MUC5B	1209836	0.027000	0.19231	0.934000	0.37439	0.455000	0.32408	-1.078000	0.03413	-1.179000	0.02737	-0.369000	0.07265	GAC		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1253260	C	A	1253260	3	1	464	1	0	0	0	0	1	0	0	0	9981	535	19	4	1780	4	MUC5B	11	1253260	Missense_Mutation	SNP	C	TCGA-BQ-5888-01A-11D-1589-08		1253260	133753256	10	25273											
KCNK7	10089	hgsc.bcm.edu	37	11	65360850	65360850	+	Intron	SNP	T	T	C			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr11:65360850T>C	ENST00000340313.4	-	2	942				AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000342202.4_Silent_p.G241G|KCNK7_ENST00000394217.2_Silent_p.G241G	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GTGAGGTCCCTCCACCTGCAA	0.627																																																0													82	83	82					11																	65360850		2201	4297	6498	SO:0001627	intron_variant	10089			AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.718+96A>G	chr11.hg19:g.65360850T>C			Q3SYI2|Q9Y2U3|Q9Y2U4	Silent	SNP	ENST00000340313.4	hg19	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	T	6.803	0.517237	0.13005	.	.	ENSG00000173338	ENST00000525254	.	.	.	4.14	-4.28	0.03732	.	.	.	.	.	T	0.20170	0.0485	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29397	-1.0013	4	.	.	.	.	4.0939	0.09982	0.3119:0.4105:0.0:0.2776	.	.	.	.	G	17	.	.	R	-	1	2	KCNK7	65117426	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.096000	0.03353	-0.723000	0.04915	0.459000	0.35465	AGG		0.627	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		C	65360850	T	C	65360850	1	2	464	0	1	0	0	0	0	0	0	0	8073	1538	54	3		3	KCNK7	11	65360850	Intron	SNP	T	TCGA-BQ-5888-01A-11D-1589-08	64107590	65360850	69645666	11	25274											
CELA1	1990	hgsc.bcm.edu	37	12	51740415	51740415	+	Missense_Mutation	SNP	A	A	C	rs370927847|rs386762976|rs55827519	byFrequency	TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr12:51740415A>C	ENST00000293636.1	-	1	48	c.8T>G	c.(7-9)gTc>gGc	p.V3G		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	3					exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V3fs*21(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						ACCATAAAGGACCAGCATGTT	0.512																																																1	Deletion - Frameshift(1)	large_intestine(1)											198	125	149					12																	51740415		2199	4290	6489	SO:0001583	missense	1990				CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.8T>G	chr12.hg19:g.51740415A>C	ENSP00000293636:p.Val3Gly		Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	hg19	CCDS8812.1	.	.	.	.	.	.	.	.	.	.	-	10.50	1.368338	0.24771	.	.	ENSG00000139610	ENST00000293636	D	0.89552	-2.53	3.61	0.701	0.18104	.	0.180867	0.43747	D	0.000529	T	0.82121	0.4968	L	0.55990	1.75	0.28932	N	0.891491	B	0.27823	0.19	B	0.26517	0.07	T	0.73855	-0.3851	10	0.87932	D	0	-1.5222	3.134	0.06433	0.3198:0.0:0.4933:0.1868	.	3	Q9UNI1	CELA1_HUMAN	G	3	ENSP00000293636:V3G	ENSP00000293636:V3G	V	-	2	0	CELA1	50026682	0.009000	0.17119	0.433000	0.26760	0.045000	0.14185	0.204000	0.17335	-0.043000	0.13513	-0.633000	0.03987	GTC		0.512	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		C	51740415	A	C	51740415	3	2	464	1	0	0	0	0	1	0	0	0	3212	275	10	5	800	5	CELA1	12	51740415	Missense_Mutation	SNP	A	TCGA-BQ-5888-01A-11D-1589-08		51740415	82111480	12	25275											
ANKRD11	29123	hgsc.bcm.edu	37	16	89345492	89345492	+	Silent	SNP	G	G	A	rs569755271		TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr16:89345492G>A	ENST00000301030.4	-	9	7918	c.7458C>T	c.(7456-7458)ctC>ctT	p.L2486L	ANKRD11_ENST00000378330.2_Silent_p.L2486L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2486					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGGGATGTGGAGCTTGCTGA	0.657																																																0													25	22	23					16																	89345492		2197	4298	6495	SO:0001819	synonymous_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7458C>T	chr16.hg19:g.89345492G>A			Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	hg19	CCDS32513.1																																																																																				0.657	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		A	89345492	G	A	89345492	2	1	464	1	0	0	0	0	0	0	0	1	639	1161	41	2		2	ANKRD11	16	89345492	Silent	SNP	G	TCGA-BQ-5888-01A-11D-1589-08		89345492	1009261	13	25276											
SLFN11	91607	hgsc.bcm.edu	37	17	33679780	33679780	+	Silent	SNP	G	G	A	rs377363363		TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr17:33679780G>A	ENST00000394566.1	-	7	2573	c.2301C>T	c.(2299-2301)gcC>gcT	p.A767A	SLFN11_ENST00000308377.4_Silent_p.A767A	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	767					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGACCATTCGGCTTCAGGAA	0.443																																																0								G	,,,,	0,4406		0,0,2203	65	61	62		2301,2301,2301,2301,2301	1.7	0	17		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLFN11	NM_001104587.1,NM_001104588.1,NM_001104589.1,NM_001104590.1,NM_152270.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	767/902,767/902,767/902,767/902,767/902	33679780	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2301C>T	chr17.hg19:g.33679780G>A			E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	hg19	CCDS11294.1																																																																																				0.443	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		A	33679780	G	A	33679780	2	1	464	1	0	0	0	0	0	0	0	1	14739	1103	39	1		1	SLFN11	17	33679780	Silent	SNP	G	TCGA-BQ-5888-01A-11D-1589-08		33679780	47515430	14	25277											
PTPRM	5797	hgsc.bcm.edu	37	18	8379245	8379245	+	Silent	SNP	G	G	A			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr18:8379245G>A	ENST00000332175.8	+	26	4691	c.3654G>A	c.(3652-3654)cgG>cgA	p.R1218R	PTPRM_ENST00000400060.4_Silent_p.R1232R|PTPRM_ENST00000580170.1_Silent_p.R1231R|PTPRM_ENST00000400053.4_Silent_p.R1156R|PTPRM_ENST00000444013.1_Silent_p.R1005R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1218	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGAAAAACCGGTGCATGGACA	0.562																																																0													138	108	118					18																	8379245		2203	4300	6503	SO:0001819	synonymous_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3654G>A	chr18.hg19:g.8379245G>A			A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	hg19	CCDS11840.1																																																																																				0.562	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			A	8379245	G	A	8379245	2	1	464	1	0	0	0	0	0	0	0	1	12812	1248	44	2		2	PTPRM	18	8379245	Silent	SNP	G	TCGA-BQ-5888-01A-11D-1589-08		8379245	69698003	15	25278											
PRTN3	5657	hgsc.bcm.edu	37	19	841048	841048	+	Silent	SNP	C	C	T			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr19:841048C>T	ENST00000234347.5	+	1	86	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	PRTN3_ENST00000544537.2_5'Flank	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	14					collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGTCCGTGCTGCTGGCCTT	0.657																																																0													32	30	31					19																	841048		2202	4300	6502	SO:0001819	synonymous_variant	5657				CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"myeloblastin", "serine proteinase, neutrophil", "Wegener granulomatosis autoantigen"	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.40C>T	chr19.hg19:g.841048C>T			P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Silent	SNP	ENST00000234347.5	hg19	CCDS32860.1																																																																																				0.657	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457888.2	NM_002777		T	841048	C	T	841048	2	4	464	1	0	0	0	0	0	0	0	1	12644	796	28	2		2	PRTN3	19	841048	Silent	SNP	C	TCGA-BQ-5888-01A-11D-1589-08		841048	58287935	16	25279											
HNRNPL	3191	hgsc.bcm.edu	37	19	39336576	39336576	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr19:39336576G>C	ENST00000221419.5	-	3	907	c.541C>G	c.(541-543)Cgc>Ggc	p.R181G	HNRNPL_ENST00000600873.1_Missense_Mutation_p.R48G|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	181					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCCCCAGGGCGGGAGATCTTC	0.542																																																0													117	115	115					19																	39336576		2203	4300	6503	SO:0001583	missense	3191			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"RNA binding motif (RRM) containing"	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.541C>G	chr19.hg19:g.39336576G>C	ENSP00000221419:p.Arg181Gly		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	hg19	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004874	0.54254	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750;ENST00000423415;ENST00000536292	.	.	.	5.39	5.39	0.77823	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	M	0.74258	2.255	0.58432	D	0.999995	B	0.18461	0.028	B	0.20767	0.031	T	0.68812	-0.5310	9	0.66056	D	0.02	.	17.9088	0.88928	0.0:0.0:1.0:0.0	.	181	P14866	HNRPL_HUMAN	G	181;48;48;48;109	.	ENSP00000221419:R181G	R	-	1	0	HNRNPL	44028416	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	5.035000	0.64158	2.541000	0.85698	0.462000	0.41574	CGC		0.542	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			C	39336576	G	C	39336576	3	2	464	1	0	0	0	0	1	0	0	0	7272	1116	39	4	1272	4	HNRNPL	19	39336576	Missense_Mutation	SNP	G	TCGA-BQ-5888-01A-11D-1589-08	38495528	39336576	19792407	17	25280											
LILRA6	79168	hgsc.bcm.edu	37	19	54745734	54745734	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr19:54745734G>T	ENST00000396365.2	-	4	415	c.376C>A	c.(376-378)Ctc>Atc	p.L126I	LILRA6_ENST00000245621.5_Missense_Mutation_p.L126I|LILRA6_ENST00000440558.2_Missense_Mutation_p.L126I|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.L126I|LILRA6_ENST00000270464.5_Missense_Mutation_p.L126I|LILRA6_ENST00000391735.3_Missense_Mutation_p.L126I	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	126					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.L126F(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGCTGAGAGGGTGGGTTTG	0.567																																																2	Substitution - Missense(2)	lung(2)											62	102	89					19																	54745734		2108	4294	6402	SO:0001583	missense	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.376C>A	chr19.hg19:g.54745734G>T	ENSP00000379651:p.Leu126Ile			Missense_Mutation	SNP	ENST00000396365.2	hg19	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212570	0.58452	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.01981	5.38;5.38;5.38;4.52;5.38;5.38	3.4	3.4	0.38934	Immunoglobulin-like fold (1);	0.278862	0.25747	N	0.028562	T	0.11153	0.0272	M	0.81942	2.565	0.23546	N	0.997443	D;P;D;D;D;D	0.76494	0.995;0.947;0.982;0.997;0.997;0.999	D;D;D;D;D;D	0.81914	0.986;0.959;0.949;0.987;0.995;0.995	T	0.00984	-1.1491	10	0.87932	D	0	.	10.5189	0.44907	0.0:0.0:1.0:0.0	.	126;126;126;126;126;126	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	I	126	ENSP00000390120:L126I;ENSP00000270464:L126I;ENSP00000411227:L126I;ENSP00000375615:L126I;ENSP00000379651:L126I;ENSP00000245621:L126I	ENSP00000245621:L126I	L	-	1	0	LILRA6	59437546	0.011000	0.17503	0.553000	0.28255	0.078000	0.17371	1.276000	0.33156	1.936000	0.56123	0.184000	0.17185	CTC		0.567	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		T	54745734	G	T	54745734	3	4	464	1	0	0	0	0	1	0	0	0	8791	1000	35	4	1089	4	LILRA6	19	54745734	Missense_Mutation	SNP	G	TCGA-BQ-5888-01A-11D-1589-08	15409158	54745734	4383249	18	25281											
KRTAP10-3	386682	hgsc.bcm.edu	37	21	45978127	45978127	+	Missense_Mutation	SNP	C	C	T	rs369545090		TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr21:45978127C>T	ENST00000391620.1	-	1	516	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	158	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						AGGAGGGACACGGAGGAGGAG	0.692																																																0								C	MET/VAL,	1,4405	2.1+/-5.4	0,1,2202	89	96	93		472,	2.6	0.6	21		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	TSPEAR,KRTAP10-3	NM_198696.2,NM_144991.2	21,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,	158/222,	45978127	2,13004	2203	4300	6503	SO:0001583	missense	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.472G>A	chr21.hg19:g.45978127C>T	ENSP00000375478:p.Val158Met		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	hg19	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	c	3.276	-0.148013	0.06627	2.27E-4	1.16E-4	ENSG00000212935	ENST00000391620	T	0.01438	4.89	3.53	2.61	0.31194	.	.	.	.	.	T	0.05823	0.0152	M	0.84948	2.725	0.09310	N	1	D	0.59357	0.985	P	0.53593	0.73	T	0.14144	-1.0483	9	0.59425	D	0.04	.	9.6661	0.39986	0.0:0.5593:0.4407:0.0	.	158	P60369	KR103_HUMAN	M	158	ENSP00000375478:V158M	ENSP00000375478:V158M	V	-	1	0	KRTAP10-3	44802555	0.060000	0.20803	0.577000	0.28562	0.005000	0.04900	0.116000	0.15561	0.772000	0.33382	0.561000	0.74099	GTG		0.692	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			T	45978127	C	T	45978127	3	4	464	1	0	0	0	0	1	0	0	0	8512	536	19	1	197	1	KRTAP10-3	21	45978127	Missense_Mutation	SNP	C	TCGA-BQ-5888-01A-11D-1589-08		45978127	2151768	19	25282											
GTSE1	51512	hgsc.bcm.edu	37	22	46724721	46724721	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5888-01A-11D-1589-08	TCGA-BQ-5888-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	31e068e4-adc9-4148-b785-8deb4ef1637a	2d3ada40-7a55-492a-9f70-0cfe97cc66ea	g.chr22:46724721A>C	ENST00000454366.1	+	10	2073	c.1861A>C	c.(1861-1863)Aaa>Caa	p.K621Q		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	602					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TACTTTCTCCAAAAGTACTGC	0.567																																					GBM(153;542 1915 12487 29016 50495)											0													88	95	93					22																	46724721		2203	4300	6503	SO:0001583	missense	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1861A>C	chr22.hg19:g.46724721A>C	ENSP00000415430:p.Lys621Gln		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	hg19	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	A	7.057	0.565524	0.13560	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.07021	3.23	4.41	-0.765	0.11023	.	0.925293	0.09363	N	0.812463	T	0.03871	0.0109	N	0.12471	0.22	0.09310	N	1	B;B	0.25312	0.123;0.123	B;B	0.21360	0.023;0.034	T	0.45687	-0.9244	10	0.25751	T	0.34	-5.7757	4.1358	0.10170	0.3102:0.4118:0.278:0.0	.	602;581	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	Q	621;581	ENSP00000415430:K621Q	ENSP00000354634:K581Q	K	+	1	0	GTSE1	45103385	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.240000	0.08952	-0.032000	0.13758	0.533000	0.62120	AAA		0.567	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		C	46724721	A	C	46724721	3	2	464	1	0	0	0	0	1	0	0	0	6887	131	5	5	1895	5	GTSE1	22	46724721	Missense_Mutation	SNP	A	TCGA-BQ-5888-01A-11D-1589-08		46724721	4579845	20	25283											
PHACTR4	65979	hgsc.bcm.edu	37	1	28800653	28800653	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:28800653A>T	ENST00000373839.3	+	7	1672	c.1411A>T	c.(1411-1413)Atg>Ttg	p.M471L	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.M481L	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	471					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CACTATTGAAATGCTAAAAGT	0.413																																																0													102	103	103					1																	28800653		1898	4120	6018	SO:0001583	missense	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1411A>T	chr1.hg19:g.28800653A>T	ENSP00000362945:p.Met471Leu		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	hg19	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	A	4.322	0.059030	0.08339	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.21191	2.02;2.02	5.75	4.55	0.56014	.	0.347042	0.36134	N	0.002762	T	0.13286	0.0322	N	0.20401	0.57	0.30856	N	0.734034	B;B	0.19073	0.033;0.009	B;B	0.18871	0.023;0.004	T	0.06972	-1.0797	10	0.27785	T	0.31	-6.0179	10.959	0.47374	0.7173:0.2827:0.0:0.0	.	481;471	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	L	471;481;470	ENSP00000362945:M471L;ENSP00000362942:M481L	ENSP00000362942:M481L	M	+	1	0	PHACTR4	28673240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.932000	0.56537	2.190000	0.69967	0.533000	0.62120	ATG		0.413	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		T	28800653	A	T	28800653	3	4	465	1	0	0	0	0	1	0	0	0	11814	101	4	5	1483	5	PHACTR4	1	28800653	Missense_Mutation	SNP	A	TCGA-BQ-5889-01A-11D-1589-08		28800653	220449968	1	25284											
FAM151A	338094	hgsc.bcm.edu	37	1	55077293	55077293	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:55077293A>C	ENST00000302250.2	-	6	1086	c.926T>G	c.(925-927)tTc>tGc	p.F309C	FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	309						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAGCTGCTTGAACTGTGACAG	0.567																																																0													127	111	116					1																	55077293		2203	4300	6503	SO:0001583	missense	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.926T>G	chr1.hg19:g.55077293A>C	ENSP00000306888:p.Phe309Cys		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	hg19	CCDS594.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560447	0.65538	.	.	ENSG00000162391	ENST00000302250	T	0.15017	2.46	4.59	4.59	0.56863	.	0.064498	0.64402	D	0.000009	T	0.30198	0.0757	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.03413	-1.1039	10	0.87932	D	0	-31.1715	13.3708	0.60711	1.0:0.0:0.0:0.0	.	309	Q8WW52	F151A_HUMAN	C	309	ENSP00000306888:F309C	ENSP00000306888:F309C	F	-	2	0	FAM151A	54849881	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.952000	0.75989	2.039000	0.60335	0.533000	0.62120	TTC		0.567	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		C	55077293	A	C	55077293	3	2	465	1	0	0	0	0	1	0	0	0	5460	246	9	5	843	5	FAM151A	1	55077293	Missense_Mutation	SNP	A	TCGA-BQ-5889-01A-11D-1589-08	26276640	55077293	194173328	2	25285											
SSX2IP	117178	hgsc.bcm.edu	37	1	85121610	85121610	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:85121610G>A	ENST00000342203.3	-	11	1557	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	SSX2IP_ENST00000437941.2_Missense_Mutation_p.L405F|SSX2IP_ENST00000605755.1_Missense_Mutation_p.L405F|SSX2IP_ENST00000370612.4_Missense_Mutation_p.L432F|SSX2IP_ENST00000603677.1_Intron	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	432					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTTCTTTGAGACGTTCCTTT	0.388																																																0													86	85	86					1																	85121610		2203	4300	6503	SO:0001583	missense	117178				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1294C>T	chr1.hg19:g.85121610G>A	ENSP00000340279:p.Leu432Phe		A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	hg19	CCDS699.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495910	0.85069	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.67345	-0.21;-0.26	5.07	5.07	0.68467	.	0.116998	0.64402	D	0.000014	T	0.71392	0.3334	M	0.62723	1.935	0.49798	D	0.999822	D;D;D	0.67145	0.996;0.987;0.987	P;P;P	0.56474	0.799;0.635;0.635	T	0.72064	-0.4403	10	0.49607	T	0.09	-20.4465	18.6376	0.91384	0.0:0.0:1.0:0.0	.	428;432;405	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	F	432;405;428;432	ENSP00000340279:L432F;ENSP00000412781:L405F	ENSP00000340279:L432F	L	-	1	0	SSX2IP	84894198	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.237000	0.65360	2.648000	0.89879	0.591000	0.81541	CTC		0.388	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		A	85121610	G	A	85121610	3	1	465	1	0	0	0	0	1	0	0	0	15209	942	33	2	566	2	SSX2IP	1	85121610	Missense_Mutation	SNP	G	TCGA-BQ-5889-01A-11D-1589-08	30044317	85121610	164129011	3	25286											
TXNIP	10628	hgsc.bcm.edu	37	1	145439917	145439917	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:145439917G>A	ENST00000369317.4	+	3	797	c.463G>A	c.(463-465)Gat>Aat	p.D155N	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	155					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAATACCCCTGATTTAATGGT	0.428																																																0													86	92	90					1																	145439917		2202	4299	6501	SO:0001583	missense	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.463G>A	chr1.hg19:g.145439917G>A	ENSP00000358323:p.Asp155Asn		B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	hg19	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529556	0.64860	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.11169	3.17;2.8	5.27	5.27	0.74061	Immunoglobulin E-set (1);	0.048081	0.85682	D	0.000000	T	0.06371	0.0164	N	0.25485	0.75	0.80722	D	1	P;P	0.51791	0.938;0.948	P;P	0.49528	0.532;0.614	T	0.46034	-0.9220	10	0.15499	T	0.54	-0.5065	16.4254	0.83813	0.0:0.0:1.0:0.0	.	100;155	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	N	155;100	ENSP00000358323:D155N;ENSP00000396322:D100N	ENSP00000358323:D155N	D	+	1	0	TXNIP	144151274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.243000	0.78219	2.753000	0.94483	0.651000	0.88453	GAT		0.428	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		A	145439917	G	A	145439917	3	1	465	1	0	0	0	0	1	0	0	0	16808	1290	45	2	473	2	TXNIP	1	145439917	Missense_Mutation	SNP	G	TCGA-BQ-5889-01A-11D-1589-08	60318307	145439917	103810704	4	25287											
PYHIN1	149628	hgsc.bcm.edu	37	1	158912063	158912063	+	Silent	SNP	T	T	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:158912063T>G	ENST00000368140.1	+	5	1121	c.876T>G	c.(874-876)gcT>gcG	p.A292A	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.A283A|PYHIN1_ENST00000392252.3_Silent_p.A283A|PYHIN1_ENST00000392254.2_Silent_p.A292A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	292	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TATCTGAAGCTGGTCCTGACC	0.353																																																0													49	50	50					1																	158912063		2203	4298	6501	SO:0001819	synonymous_variant	149628			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.876T>G	chr1.hg19:g.158912063T>G			Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	hg19	CCDS1178.1																																																																																				0.353	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		G	158912063	T	G	158912063	2	3	465	1	0	0	0	0	0	0	0	1	12871	1567	55	5		5	PYHIN1	1	158912063	Silent	SNP	T	TCGA-BQ-5889-01A-11D-1589-08	13472146	158912063	90338558	5	25288											
ZP4	57829	hgsc.bcm.edu	37	1	238053765	238053765	+	Silent	SNP	A	A	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr1:238053765A>T	ENST00000366570.4	-	1	329	c.171T>A	c.(169-171)gcT>gcA	p.A57A	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	57					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACTTACCCCAAGCTATTAGTA	0.478																																					NSCLC(166;160 2029 11600 18754 19936)											0													68	67	67					1																	238053765		2203	4300	6503	SO:0001819	synonymous_variant	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.171T>A	chr1.hg19:g.238053765A>T			B2RAE1	Silent	SNP	ENST00000366570.4	hg19	CCDS1615.1																																																																																				0.478	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			T	238053765	A	T	238053765	2	4	465	1	0	0	0	0	0	0	0	1	18223	59	3	5		5	ZP4	1	238053765	Silent	SNP	A	TCGA-BQ-5889-01A-11D-1589-08	79141702	238053765	11196856	6	25289											
CRIM1	51232	hgsc.bcm.edu	37	2	36583678	36583678	+	Nonsense_Mutation	SNP	C	C	G	rs369487866		TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr2:36583678C>G	ENST00000280527.2	+	1	610	c.243C>G	c.(241-243)taC>taG	p.Y81*	RP11-490M8.1_ENST00000565283.1_lincRNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	81	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCGGGATTTACGGAACCTGCG	0.682																																																0													40	42	41					2																	36583678		2202	4298	6500	SO:0001587	stop_gained	51232			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.243C>G	chr2.hg19:g.36583678C>G	ENSP00000280527:p.Tyr81*		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Nonsense_Mutation	SNP	ENST00000280527.2	hg19	CCDS1783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	36|36	5.673833|5.673833	0.96764|0.96764	.|.	.|.	ENSG00000150938|ENSG00000150938	ENST00000428774|ENST00000280527;ENST00000426856	.|.	.|.	.|.	3.26|3.26	-0.383|-0.383	0.12477|0.12477	.|.	.|0.313844	.|0.28790	.|N	.|0.014130	T|.	0.13157|.	0.0319|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34527|.	-0.9825|.	3|.	.|0.02654	.|T	.|1	-0.0216|-0.0216	4.367|4.367	0.11228|0.11228	0.0:0.4434:0.1693:0.3873|0.0:0.4434:0.1693:0.3873	.|.	.|.	.|.	.|.	R|X	22|81;31	.|.	.|ENSP00000280527:Y81X	T|Y	+|+	2|3	0|2	CRIM1|CRIM1	36437182|36437182	0.988000|0.988000	0.35896|0.35896	0.948000|0.948000	0.38648|0.38648	0.105000|0.105000	0.19272|0.19272	0.433000|0.433000	0.21477|0.21477	-0.053000|-0.053000	0.13289|0.13289	-0.132000|-0.132000	0.14878|0.14878	ACG|TAC		0.682	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		G	36583678	C	G	36583678	4	3	465	1	0	0	0	0	0	1	0	0	3875	547	19	4	245	4	CRIM1	2	36583678	Nonsense_Mutation	SNP	C	TCGA-BQ-5889-01A-11D-1589-08		36583678	206615695	7	25290											
SRBD1	55133	hgsc.bcm.edu	37	2	45647009	45647009	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr2:45647009T>C	ENST00000263736.4	-	17	2136	c.2074A>G	c.(2074-2076)Aag>Gag	p.K692E	SRBD1_ENST00000535761.1_Missense_Mutation_p.K211E|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	692					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGTGTTGCCTTGAGTAAAGTC	0.383																																																0													151	136	141					2																	45647009		2203	4300	6503	SO:0001583	missense	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2074A>G	chr2.hg19:g.45647009T>C	ENSP00000263736:p.Lys692Glu		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	hg19	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029717	0.54790	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.32272	1.83;1.46	5.74	5.74	0.90152	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.39020	1.185	0.46336	D	0.998999	D	0.67145	0.996	P	0.60609	0.877	T	0.08994	-1.0695	10	0.14656	T	0.56	.	16.0363	0.80631	0.0:0.0:0.0:1.0	.	692	Q8N5C6	SRBD1_HUMAN	E	692;211	ENSP00000263736:K692E;ENSP00000441272:K211E	ENSP00000263736:K692E	K	-	1	0	SRBD1	45500513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.193000	0.70182	0.460000	0.39030	AAG		0.383	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		C	45647009	T	C	45647009	3	2	465	1	0	0	0	0	1	0	0	0	15138	1821	63	3	933	3	SRBD1	2	45647009	Missense_Mutation	SNP	T	TCGA-BQ-5889-01A-11D-1589-08	9063331	45647009	197552364	8	25291											
EIF5B	9669	hgsc.bcm.edu	37	2	99978207	99978207	+	Silent	SNP	A	A	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr2:99978207A>T	ENST00000289371.6	+	4	1045	c.843A>T	c.(841-843)gtA>gtT	p.V281V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	281					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGAAACTGTAAAATCCAAAG	0.388																																					Colon(162;2388 2567 2705 3444)											0													98	97	97					2																	99978207		1836	4081	5917	SO:0001819	synonymous_variant	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.843A>T	chr2.hg19:g.99978207A>T			O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	ENST00000289371.6	hg19	CCDS42721.1																																																																																				0.388	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		T	99978207	A	T	99978207	2	4	465	1	0	0	0	0	0	0	0	1	5046	349	13	5		5	EIF5B	2	99978207	Silent	SNP	A	TCGA-BQ-5889-01A-11D-1589-08	54331198	99978207	143221166	9	25292											
SLC20A1	6574	hgsc.bcm.edu	37	2	113404533	113404533	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr2:113404533A>T	ENST00000272542.3	+	2	667	c.128A>T	c.(127-129)gAt>gTt	p.D43V	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	43					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GGAGCCAATGATGTAGCAAAT	0.502																																																0													110	104	106					2																	113404533		2203	4300	6503	SO:0001583	missense	6574				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.128A>T	chr2.hg19:g.113404533A>T	ENSP00000272542:p.Asp43Val		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	hg19	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542663	0.85917	.	.	ENSG00000144136	ENST00000272542	D	0.95412	-3.7	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.98557	0.9518	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99372	1.0920	10	0.87932	D	0	3.1498	13.0754	0.59083	1.0:0.0:0.0:0.0	.	43	Q8WUM9	S20A1_HUMAN	V	43	ENSP00000272542:D43V	ENSP00000272542:D43V	D	+	2	0	SLC20A1	113121004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	2.036000	0.60181	0.482000	0.46254	GAT		0.502	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		T	113404533	A	T	113404533	3	4	465	1	0	0	0	0	1	0	0	0	14444	333	12	5	130	5	SLC20A1	2	113404533	Missense_Mutation	SNP	A	TCGA-BQ-5889-01A-11D-1589-08	13426326	113404533	129794840	10	25293											
ERCC3	2071	hgsc.bcm.edu	37	2	128050232	128050232	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr2:128050232T>A	ENST00000285398.2	-	3	519	c.425A>T	c.(424-426)aAg>aTg	p.K142M	ERCC3_ENST00000493187.2_Missense_Mutation_p.K78M	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	142					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTGCTGAGCTTCCTGAGGTA	0.493			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"		E	0													102	92	95					2																	128050232		2203	4300	6503	SO:0001583	missense	2071	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.425A>T	chr2.hg19:g.128050232T>A	ENSP00000285398:p.Lys142Met		Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	hg19	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485972	0.84854	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.73363	-0.74;-0.74	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	L	0.57536	1.79	0.80722	D	1	B	0.24576	0.106	P	0.46208	0.507	T	0.81722	-0.0803	10	0.72032	D	0.01	-32.2621	14.8747	0.70485	0.0:0.0:0.0:1.0	.	142	P19447	ERCC3_HUMAN	M	142;78	ENSP00000285398:K142M;ENSP00000444796:K78M	ENSP00000285398:K142M	K	-	2	0	ERCC3	127766702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	1.916000	0.55485	0.528000	0.53228	AAG		0.493	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		A	128050232	T	A	128050232	3	1	465	1	0	0	0	0	1	0	0	0	5216	1609	56	5	1975	5	ERCC3	2	128050232	Missense_Mutation	SNP	T	TCGA-BQ-5889-01A-11D-1589-08	14645699	128050232	115149141	11	25294											
UGT1A1	54658	hgsc.bcm.edu	37	2	234669022	234669022	+	Missense_Mutation	SNP	T	T	C	rs375204962		TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr2:234669022T>C	ENST00000608383.1	+	1	89	c.89T>C	c.(88-90)aTa>aCa	p.I30T	UGT1A1_ENST00000608381.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.I30T|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.I30T			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	30					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GCTGGGAAGATACTGTTGATC	0.612																																																0								T	THR/ILE,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	66	52	57		89,,,,,,,,,	6.1	0.1	2		57	0,8600		0,0,4300	no	missense,intron,intron,intron,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A1,UGT1A3	NM_000463.2,NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	89,,,,,,,,,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,,,,,,,,,	30/534,,,,,,,,,	234669022	1,13005	2203	4300	6503	SO:0001583	missense	54658			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.89T>C	chr2.hg19:g.234669022T>C	ENSP00000476741:p.Ile30Thr		A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	hg19	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425296	0.62733	2.27E-4	0.0	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.71103	-0.54;-0.54	6.07	6.07	0.98685	.	.	.	.	.	T	0.80076	0.4557	L	0.55990	1.75	0.31696	N	0.641215	P;P	0.46952	0.887;0.537	P;B	0.58266	0.836;0.158	T	0.82948	-0.0204	9	0.87932	D	0	.	16.6277	0.84984	0.0:0.0:0.0:1.0	.	30;30	A6NJC3;P22309	.;UD11_HUMAN	T	30	ENSP00000304845:I30T;ENSP00000353593:I30T	ENSP00000304845:I30T	I	+	2	0	UGT1A1	234333761	0.998000	0.40836	0.056000	0.19401	0.047000	0.14425	8.001000	0.88508	2.330000	0.79161	0.528000	0.53228	ATA		0.612	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				C	234669022	T	C	234669022	3	2	465	1	0	0	0	0	1	0	0	0	16949	1406	49	3	91	3	UGT1A1	2	234669022	Missense_Mutation	SNP	T	TCGA-BQ-5889-01A-11D-1589-08	106618790	234669022	8530351	12	25295											
PLCXD2	257068	hgsc.bcm.edu	37	3	111432757	111432757	+	Silent	SNP	C	C	T	rs372815872		TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr3:111432757C>T	ENST00000477665.1	+	3	972	c.648C>T	c.(646-648)ccC>ccT	p.P216P	PLCXD2_ENST00000393934.3_Silent_p.P216P	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	216					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.P216P(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ACCACTGTCCCTTCTACAAGC	0.443																																																1	Substitution - coding silent(1)	lung(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	83	82	82		648,648	3.5	1	3		82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLCXD2	NM_001185106.1,NM_153268.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	216/306,216/305	111432757	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	257068			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.648C>T	chr3.hg19:g.111432757C>T			Q96N12	Silent	SNP	ENST00000477665.1	hg19	CCDS54619.1																																																																																				0.443	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		T	111432757	C	T	111432757	2	4	465	1	0	0	0	0	0	0	0	1	12044	668	24	2		2	PLCXD2	3	111432757	Silent	SNP	C	TCGA-BQ-5889-01A-11D-1589-08		111432757	86589673	13	25296											
LYAR	55646	hgsc.bcm.edu	37	4	4276371	4276375	+	Frame_Shift_Del	DEL	CTTCA	CTTCA	-			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	CTTCA	CTTCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr4:4276371_4276375delCTTCA	ENST00000343470.4	-	7	791_795	c.551_555delTGAAG	c.(550-555)gtgaagfs	p.VK184fs	LYAR_ENST00000452476.1_Frame_Shift_Del_p.VK184fs	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	184	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ttttATTCTTCTTCACCTCCCCTTG	0.449																																																0																																										SO:0001589	frameshift_variant	55646			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.551_555delTGAAG	chr4.hg19:g.4276371_4276375delCTTCA	ENSP00000345917:p.Val184fs		D3DVS4|Q6FI78|Q9NYS1	Frame_Shift_Del	DEL	ENST00000343470.4	hg19	CCDS3374.1																																																																																				0.449	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		-	4276375	CTTCA	-	4276371	7	5	465	1	0	1	0	1	0	0	0	0	9105	912	32	0	600	0	LYAR	4	4276371	Frame_Shift_Del	DEL	CTTCA	TCGA-BQ-5889-01A-11D-1589-08		4276371	186877905	14	25297											
OTUD4	54726	hgsc.bcm.edu	37	4	146076795	146076795	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr4:146076795C>A	ENST00000447906.2	-	9	921	c.734G>T	c.(733-735)aGa>aTa	p.R245I	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.R180I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	245					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AAGAACCTTTCTAGACAAAGG	0.358																																																0													106	105	105					4																	146076795		2203	4300	6503	SO:0001583	missense	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.734G>T	chr4.hg19:g.146076795C>A	ENSP00000395487:p.Arg245Ile		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	hg19		.	.	.	.	.	.	.	.	.	.	C	16.36	3.101779	0.56183	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.32753	1.44;1.44;1.45	5.37	5.37	0.77165	.	0.077530	0.56097	D	0.000034	T	0.40448	0.1117	L	0.60455	1.87	0.80722	D	1	D;D	0.65815	0.995;0.985	P;P	0.52217	0.693;0.578	T	0.18777	-1.0326	10	0.54805	T	0.06	-19.7161	11.4953	0.50404	0.0:0.9095:0.0:0.0905	.	245;244	G3V0I6;Q01804	.;OTUD4_HUMAN	I	180;245;179	ENSP00000409279:R180I;ENSP00000395487:R245I;ENSP00000425972:R179I	ENSP00000395487:R245I	R	-	2	0	OTUD4	146296245	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	0.964000	0.29306	2.669000	0.90835	0.655000	0.94253	AGA		0.358	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		A	146076795	C	A	146076795	3	1	465	1	0	0	0	0	1	0	0	0	11316	913	32	4	2662	4	OTUD4	4	146076795	Missense_Mutation	SNP	C	TCGA-BQ-5889-01A-11D-1589-08	141800424	146076795	45077481	15	25298											
ARAP3	64411	hgsc.bcm.edu	37	5	141033934	141033934	+	Silent	SNP	T	T	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr5:141033934T>C	ENST00000239440.4	-	33	4283	c.4218A>G	c.(4216-4218)ccA>ccG	p.P1406P	ARAP3_ENST00000512390.1_5'UTR|FCHSD1_ENST00000522783.1_5'Flank|ARAP3_ENST00000513878.1_Silent_p.P1055P|FCHSD1_ENST00000435817.2_5'Flank|ARAP3_ENST00000508305.1_Silent_p.P1237P|FCHSD1_ENST00000519800.1_5'Flank	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1406					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTCATACACTGGCTCCTCGT	0.577																																																0													106	105	105					5																	141033934		2203	4300	6503	SO:0001819	synonymous_variant	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4218A>G	chr5.hg19:g.141033934T>C			B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	hg19	CCDS4266.1																																																																																				0.577	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		C	141033934	T	C	141033934	2	2	465	1	0	0	0	0	0	0	0	1	840	1567	55	3		3	ARAP3	5	141033934	Silent	SNP	T	TCGA-BQ-5889-01A-11D-1589-08		141033934	39881326	16	25299											
RBM27	54439	hgsc.bcm.edu	37	5	145613182	145613182	+	Silent	SNP	C	C	T	rs531339624		TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr5:145613182C>T	ENST00000265271.5	+	7	1186	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	RBM27_ENST00000506502.1_Silent_p.G340G	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	340	Pro-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			caggtccaggcccaggcccgg	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		12582	0.0		0.001	False		,,,				2504	0.0															0													72	69	70					5																	145613182		1568	3582	5150	SO:0001819	synonymous_variant	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1020C>T	chr5.hg19:g.145613182C>T			Q8IYW9	Silent	SNP	ENST00000265271.5	hg19	CCDS43378.1																																																																																				0.622	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		T	145613182	C	T	145613182	2	4	465	1	0	0	0	0	0	0	0	1	13133	726	26	2		2	RBM27	5	145613182	Silent	SNP	C	TCGA-BQ-5889-01A-11D-1589-08	4579248	145613182	35302078	17	25300											
FBXO38	81545	hgsc.bcm.edu	37	5	147781650	147781650	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr5:147781650A>G	ENST00000340253.5	+	4	536	c.368A>G	c.(367-369)cAt>cGt	p.H123R	FBXO38_ENST00000296701.6_Missense_Mutation_p.H123R|FBXO38_ENST00000394370.3_Missense_Mutation_p.H123R|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.H123R			Q6PIJ6	FBX38_HUMAN	F-box protein 38	123					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAGGGGCCATGAGGCTTTT	0.458																																																0													143	136	139					5																	147781650		2203	4299	6502	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.368A>G	chr5.hg19:g.147781650A>G	ENSP00000342023:p.His123Arg		Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	hg19		.	.	.	.	.	.	.	.	.	.	A	15.58	2.876042	0.51695	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.29917	1.55;1.56;1.55;1.56	5.77	5.77	0.91146	F-box domain, Skp2-like (1);	0.152919	0.64402	D	0.000014	T	0.20373	0.0490	L	0.27053	0.805	0.42393	D	0.992538	B;B;P	0.47677	0.038;0.053;0.899	B;B;B	0.41036	0.023;0.022;0.346	T	0.05683	-1.0870	10	0.02654	T	1	-12.0661	15.2058	0.73177	1.0:0.0:0.0:0.0	.	123;123;123	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	R	123	ENSP00000342023:H123R;ENSP00000296701:H123R;ENSP00000377895:H123R;ENSP00000426410:H123R	ENSP00000296701:H123R	H	+	2	0	FBXO38	147761843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.793000	0.69060	2.326000	0.78906	0.533000	0.62120	CAT		0.458	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		G	147781650	A	G	147781650	3	3	465	1	0	0	0	0	1	0	0	0	5748	217	8	3	378	3	FBXO38	5	147781650	Missense_Mutation	SNP	A	TCGA-BQ-5889-01A-11D-1589-08	2168468	147781650	33133610	18	25301											
RFX6	222546	hgsc.bcm.edu	37	6	117241541	117241541	+	Silent	SNP	T	T	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr6:117241541T>C	ENST00000332958.2	+	12	1267	c.1251T>C	c.(1249-1251)gaT>gaC	p.D417D		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	417					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAAGGGTTGATTTGAACAGCA	0.418																																																0													221	197	205					6																	117241541		2203	4300	6503	SO:0001819	synonymous_variant	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1251T>C	chr6.hg19:g.117241541T>C			Q5T6B3	Silent	SNP	ENST00000332958.2	hg19	CCDS5113.1																																																																																				0.418	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		C	117241541	T	C	117241541	2	2	465	1	0	0	0	0	0	0	0	1	13273	1490	52	3		3	RFX6	6	117241541	Silent	SNP	T	TCGA-BQ-5889-01A-11D-1589-08		117241541	53873526	19	25302											
MAD1L1	8379	hgsc.bcm.edu	37	7	1855740	1855740	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr7:1855740G>A	ENST00000406869.1	-	19	2680	c.2123C>T	c.(2122-2124)aCc>aTc	p.T708I	MAD1L1_ENST00000402746.1_Missense_Mutation_p.T616I|MAD1L1_ENST00000399654.2_Missense_Mutation_p.T708I|MAD1L1_ENST00000265854.7_Missense_Mutation_p.T708I			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	708					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GAGCTCGAGGGTGAGCGAGCT	0.667																																																0													28	35	33					7																	1855740		2040	4207	6247	SO:0001583	missense	8379			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.2123C>T	chr7.hg19:g.1855740G>A	ENSP00000385334:p.Thr708Ile		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	hg19	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679536	0.88542	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	3.98	3.98	0.46160	.	.	.	.	.	T	0.73628	0.3611	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79671	-0.1706	9	0.87932	D	0	-6.9772	16.1426	0.81536	0.0:0.0:1.0:0.0	.	616;708	B3KR41;Q9Y6D9	.;MD1L1_HUMAN	I	616;708;708;259;708;259	ENSP00000384155:T616I;ENSP00000382562:T708I;ENSP00000385334:T708I;ENSP00000265854:T708I;ENSP00000394886:T259I	ENSP00000265854:T708I	T	-	2	0	MAD1L1	1822266	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.338000	0.90038	1.787000	0.52448	0.456000	0.33151	ACC		0.667	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		A	1855740	G	A	1855740	3	1	465	1	0	0	0	0	1	0	0	0	9149	1261	44	2	37	2	MAD1L1	7	1855740	Missense_Mutation	SNP	G	TCGA-BQ-5889-01A-11D-1589-08		1855740	157282923	20	25303											
GLI3	2737	hgsc.bcm.edu	37	7	42004728	42004728	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr7:42004728G>T	ENST00000395925.3	-	15	4027	c.3943C>A	c.(3943-3945)Cag>Aag	p.Q1315K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1315					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACTGGGTCCTGGTTCTGCATG	0.652									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							0													37	36	36					7																	42004728		2203	4300	6503	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3943C>A	chr7.hg19:g.42004728G>T	ENSP00000379258:p.Gln1315Lys		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	hg19	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681803	0.47991	.	.	ENSG00000106571	ENST00000395925	T	0.12569	2.67	5.65	5.65	0.86999	.	0.741669	0.13841	N	0.359041	T	0.09024	0.0223	N	0.22421	0.69	0.23150	N	0.998213	B	0.13145	0.007	B	0.10450	0.005	T	0.34900	-0.9810	10	0.10377	T	0.69	.	9.7991	0.40753	0.0:0.1247:0.6842:0.1911	.	1315	P10071	GLI3_HUMAN	K	1315	ENSP00000379258:Q1315K	ENSP00000379258:Q1315K	Q	-	1	0	GLI3	41971253	0.977000	0.34250	0.012000	0.15200	0.777000	0.43975	2.070000	0.41491	2.655000	0.90218	0.655000	0.94253	CAG		0.652	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		T	42004728	G	T	42004728	3	4	465	1	0	0	0	0	1	0	0	0	6441	1357	47	4	803	4	GLI3	7	42004728	Missense_Mutation	SNP	G	TCGA-BQ-5889-01A-11D-1589-08	40148988	42004728	117133935	21	25304											
CALCR	799	hgsc.bcm.edu	37	7	93055856	93055856	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr7:93055856A>G	ENST00000394441.1	-	13	1552	c.1237T>C	c.(1237-1239)Tgg>Cgg	p.W413R	CALCR_ENST00000421592.1_Missense_Mutation_p.W429R|CALCR_ENST00000360249.4_Missense_Mutation_p.W429R|CALCR_ENST00000426151.1_Missense_Mutation_p.W413R|CALCR_ENST00000359558.2_Missense_Mutation_p.W447R	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	447					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CGCTGGTTCCACTGAATTTTG	0.542																																																0													46	51	50					7																	93055856		2203	4300	6503	SO:0001583	missense	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1237T>C	chr7.hg19:g.93055856A>G	ENSP00000377959:p.Trp413Arg		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	hg19	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823645	0.71143	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	4.57	4.57	0.56435	.	.	.	.	.	T	0.68659	0.3025	L	0.45228	1.405	0.51482	D	0.999925	D;P	0.71674	0.998;0.613	D;B	0.72075	0.976;0.248	T	0.66106	-0.6006	9	0.33141	T	0.24	.	10.4932	0.44762	1.0:0.0:0.0:0.0	.	447;413	F5H605;A4D1G6	.;.	R	447;429;429;413;413	ENSP00000352561:W447R;ENSP00000353385:W429R;ENSP00000399552:W429R;ENSP00000377959:W413R;ENSP00000389295:W413R	ENSP00000352561:W447R	W	-	1	0	CALCR	92893792	1.000000	0.71417	0.495000	0.27527	0.014000	0.08584	6.514000	0.73746	2.055000	0.61198	0.477000	0.44152	TGG		0.542	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		G	93055856	A	G	93055856	3	3	465	1	0	0	0	0	1	0	0	0	2581	159	6	3	191	3	CALCR	7	93055856	Missense_Mutation	SNP	A	TCGA-BQ-5889-01A-11D-1589-08	51051128	93055856	66082807	22	25305											
EPHB6	2051	hgsc.bcm.edu	37	7	142562311	142562311	+	Silent	SNP	G	G	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr7:142562311G>T	ENST00000392957.2	+	7	1540	c.753G>T	c.(751-753)ggG>ggT	p.G251G	EPHB6_ENST00000442129.1_Silent_p.G251G|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	251	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGGGGCTGGGGGGGCCTCCC	0.682																																																0													47	59	55					7																	142562311		2184	4281	6465	SO:0001819	synonymous_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.753G>T	chr7.hg19:g.142562311G>T			A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	hg19	CCDS5873.2																																																																																				0.682	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			T	142562311	G	T	142562311	2	4	465	1	0	0	0	0	0	0	0	1	5180	1219	43	4		4	EPHB6	7	142562311	Silent	SNP	G	TCGA-BQ-5889-01A-11D-1589-08	49506455	142562311	16576352	23	25306											
PDP1	54704	hgsc.bcm.edu	37	8	94935503	94935503	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr8:94935503T>A	ENST00000297598.4	+	2	1485	c.1216T>A	c.(1216-1218)Tta>Ata	p.L406I	PDP1_ENST00000520728.1_Missense_Mutation_p.L406I|PDP1_ENST00000396200.3_Missense_Mutation_p.L431I|PDP1_ENST00000517764.1_Missense_Mutation_p.L406I	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	406					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTACCACCGATTAAGGCCACA	0.458																																																0													124	120	121					8																	94935503		2203	4300	6503	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1216T>A	chr8.hg19:g.94935503T>A	ENSP00000297598:p.Leu406Ile		B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	hg19	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847623	0.32606	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	6.03	2.5	0.30297	Protein phosphatase 2C-like (5);	0.072136	0.56097	D	0.000026	T	0.20129	0.0484	L	0.28608	0.87	0.58432	D	0.999998	D;P	0.56287	0.975;0.932	P;P	0.57502	0.822;0.725	T	0.02004	-1.1231	10	0.27082	T	0.32	-7.6451	9.7831	0.40660	0.0:0.1882:0.0:0.8118	.	457;406	B4DYX8;Q9P0J1	.;PDP1_HUMAN	I	406;406;431;406	ENSP00000297598:L406I;ENSP00000428317:L406I;ENSP00000379503:L431I;ENSP00000430380:L406I	ENSP00000297598:L406I	L	+	1	2	PDP1	95004679	0.732000	0.28121	1.000000	0.80357	0.993000	0.82548	1.160000	0.31761	1.108000	0.41662	0.533000	0.62120	TTA		0.458	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		A	94935503	T	A	94935503	3	1	465	1	0	0	0	0	1	0	0	0	11687	1490	52	5	1399	5	PDP1	8	94935503	Missense_Mutation	SNP	T	TCGA-BQ-5889-01A-11D-1589-08		94935503	51428519	24	25307											
SNX30	401548	hgsc.bcm.edu	37	9	115567070	115567071	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr9:115567070_115567071insA	ENST00000374232.3	+	2	335_336	c.171_172insA	c.(172-174)aacfs	p.N58fs		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	58					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCATTTTGCCCAACGGTGGTAC	0.401																																																0																																										SO:0001589	frameshift_variant	401548			AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"Sorting nexins"	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.173dupA	chr9.hg19:g.115567072_115567072dupA	ENSP00000363349:p.Asn58fs			Frame_Shift_Ins	INS	ENST00000374232.3	hg19	CCDS43865.1																																																																																				0.401	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			A	115567071	-	A	115567070	7	5	465	1	0	1	1	0	0	0	0	0	14906	581	21	0	177	0	SNX30	9	115567070	Frame_Shift_Ins	INS	-	TCGA-BQ-5889-01A-11D-1589-08		115567070	25646361	25	25308											
STAM	8027	hgsc.bcm.edu	37	10	17735224	17735225	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr10:17735224_17735225GC>AA	ENST00000377524.3	+	6	663_664	c.448_449GC>AA	c.(448-450)GCa>AAa	p.A150K	RP11-390B4.3_ENST00000445235.1_RNA|STAM_ENST00000540523.1_Missense_Mutation_p.A39K	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	150					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTGTTAGGCTGCAGAACAAGCA	0.406																																																0																																										SO:0001583	missense	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	Exception_encountered	chr10.hg19:g.17735224_17735225delinsAA	ENSP00000366746:p.Ala150Lys		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	hg19	CCDS7122.1																																																																																				0.406	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		AA	17735225	GC	AA	17735224	3	1	465	1	0	0	0	0	1	0	0	0	15253	1319	46	2	470	2	STAM	10	17735224	Missense_Mutation	DNP	GC	TCGA-BQ-5889-01A-11D-1589-08		17735224	117799523	26	25309											
KAT5	10524	hgsc.bcm.edu	37	11	65480307	65480307	+	Splice_Site	SNP	T	T	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr11:65480307T>A	ENST00000377046.3	+	3	420		c.e3+2		KAT5_ENST00000534650.1_Splice_Site|KAT5_ENST00000530446.1_Splice_Site|KAT5_ENST00000525204.1_Splice_Site|KAT5_ENST00000341318.4_Splice_Site|KAT5_ENST00000352980.4_Splice_Site	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5						androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						ACATTGACTGTGAGTTCTGGG	0.547																																																0													123	117	119					11																	65480307		2201	4297	6498	SO:0001630	splice_region_variant	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.148+2T>A	chr11.hg19:g.65480307T>A			B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Splice_Site	SNP	ENST00000377046.3	hg19	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	t	17.79	3.475097	0.63737	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000530605;ENST00000528198;ENST00000531880	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4329	0.50052	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KAT5	65236883	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.458000	0.66679	1.822000	0.53115	0.459000	0.35465	.		0.547	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388	Intron	A	65480307	T	A	65480307	5	1	465	1	0	0	0	0	0	0	1	0	7985	1710	59	5	255	5	KAT5	11	65480307	Splice_Site	SNP	T	TCGA-BQ-5889-01A-11D-1589-08		65480307	69526209	27	25310											
NDUFV1	4723	hgsc.bcm.edu	37	11	67379406	67379406	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr11:67379406C>A	ENST00000322776.6	+	8	1272	c.1119C>A	c.(1117-1119)ttC>ttA	p.F373L	NDUFV1_ENST00000532303.1_Missense_Mutation_p.F272L|NDUFV1_ENST00000415352.2_Missense_Mutation_p.F366L|NDUFV1_ENST00000526169.1_3'UTR|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000529927.1_Missense_Mutation_p.F364L	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	373					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)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						TCATTGAGTTCTATAAGCACG	0.612																																																0													130	117	122					11																	67379406		2200	4294	6494	SO:0001583	missense	4723			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.1119C>A	chr11.hg19:g.67379406C>A	ENSP00000322450:p.Phe373Leu		O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	hg19	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834500	0.91036	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000529927;ENST00000415352;ENST00000453836	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	4.89	3.98	0.46160	NADH ubiquinone oxidoreductase, F subunit, iron sulphur binding (2);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	H	0.98370	4.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.999	D	0.97852	1.0275	10	0.87932	D	0	-20.1332	12.1898	0.54264	0.0:0.9151:0.0:0.0849	.	366;364;373	G3V0I5;P49821-2;P49821	.;.;NDUV1_HUMAN	L	373;272;364;366;244	ENSP00000322450:F373L;ENSP00000432015:F272L;ENSP00000436766:F364L;ENSP00000395368:F366L	ENSP00000322450:F373L	F	+	3	2	NDUFV1	67135982	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.801000	0.55545	1.189000	0.43028	0.491000	0.48974	TTC		0.612	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		A	67379406	C	A	67379406	3	1	465	1	0	0	0	0	1	0	0	0	10301	912	32	4	1149	4	NDUFV1	11	67379406	Missense_Mutation	SNP	C	TCGA-BQ-5889-01A-11D-1589-08	1899099	67379406	67627110	28	25311											
HYLS1	219844	hgsc.bcm.edu	37	11	125769383	125769383	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr11:125769383G>T	ENST00000425380.2	+	3	901	c.120G>T	c.(118-120)agG>agT	p.R40S	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.R40S|HYLS1_ENST00000356438.3_Missense_Mutation_p.R40S	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	40						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GAGATGTCAGGAGAGAAGCCC	0.488																																					Esophageal Squamous(172;2590 2636 8884 10471)											0													88	79	82					11																	125769383		2201	4299	6500	SO:0001583	missense	219844			AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.120G>T	chr11.hg19:g.125769383G>T	ENSP00000414884:p.Arg40Ser		B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	hg19	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446536	0.25987	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.63580	-0.05;-0.05;-0.05	6.17	1.81	0.25067	.	0.207432	0.29501	N	0.011979	T	0.42854	0.1221	L	0.44542	1.39	0.29443	N	0.859016	P	0.41848	0.763	B	0.31101	0.124	T	0.40905	-0.9538	10	0.40728	T	0.16	.	6.3201	0.21213	0.3191:0.162:0.5189:0.0	.	40	Q96M11	HYLS1_HUMAN	S	40	ENSP00000348815:R40S;ENSP00000414884:R40S;ENSP00000436833:R40S	ENSP00000348815:R40S	R	+	3	2	HYLS1	125274593	0.982000	0.34865	0.982000	0.44146	0.989000	0.77384	0.896000	0.28377	0.507000	0.28148	0.655000	0.94253	AGG		0.488	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		T	125769383	G	T	125769383	3	4	465	1	0	0	0	0	1	0	0	0	7471	1165	41	4	122	4	HYLS1	11	125769383	Missense_Mutation	SNP	G	TCGA-BQ-5889-01A-11D-1589-08	58389977	125769383	9237133	29	25312											
SLC26A10	65012	hgsc.bcm.edu	37	12	58016635	58016635	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr12:58016635T>C	ENST00000320442.4	+	6	1168	c.857T>C	c.(856-858)aTt>aCt	p.I286T	SLC26A10_ENST00000379218.2_Missense_Mutation_p.I286T	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	286						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCGCTGCCCATTGCACTGGTT	0.572																																																0													110	91	98					12																	58016635		2203	4300	6503	SO:0001583	missense	65012				CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.857T>C	chr12.hg19:g.58016635T>C	ENSP00000320217:p.Ile286Thr		A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	hg19	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	14.38	2.518982	0.44866	.	.	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.93547	-3.24;-3.24	3.76	3.76	0.43208	Sulphate transporter (1);	.	.	.	.	D	0.94850	0.8336	M	0.91090	3.175	0.42787	D	0.993885	P	0.45283	0.855	P	0.46685	0.524	D	0.94723	0.7902	9	0.45353	T	0.12	.	11.1297	0.48339	0.0:0.0:0.0:1.0	.	286	Q8NG04	S2610_HUMAN	T	286	ENSP00000320217:I286T;ENSP00000368520:I286T	ENSP00000320217:I286T	I	+	2	0	SLC26A10	56302902	0.996000	0.38824	0.902000	0.35471	0.457000	0.32468	6.621000	0.74228	1.941000	0.56285	0.523000	0.50628	ATT		0.572	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			C	58016635	T	C	58016635	3	2	465	1	0	0	0	0	1	0	0	0	14521	1493	52	3	879	3	SLC26A10	12	58016635	Missense_Mutation	SNP	T	TCGA-BQ-5889-01A-11D-1589-08		58016635	75835260	30	25313											
ZMYM5	9205	hgsc.bcm.edu	37	13	20398872	20398872	+	Silent	SNP	T	T	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr13:20398872T>C	ENST00000337963.4	-	8	2019	c.1755A>G	c.(1753-1755)aaA>aaG	p.K585K		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	585						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		acacagaatcttttgaggttg	0.333																																																0													27	23	24					13																	20398872		1567	3581	5148	SO:0001819	synonymous_variant	9205			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1755A>G	chr13.hg19:g.20398872T>C			B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Silent	SNP	ENST00000337963.4	hg19																																																																																					0.333	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		C	20398872	T	C	20398872	2	2	465	1	0	0	0	0	0	0	0	1	17708	1606	56	3		3	ZMYM5	13	20398872	Silent	SNP	T	TCGA-BQ-5889-01A-11D-1589-08		20398872	94771006	31	25314											
TNFRSF19	55504	hgsc.bcm.edu	37	13	24243093	24243093	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr13:24243093A>C	ENST00000382258.4	+	9	1306	c.1102A>C	c.(1102-1104)Aac>Cac	p.N368H	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.N368H|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.N236H|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.N368H	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	368					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCATTCTGAAAACTTTACAGC	0.413																																																0													113	115	114					13																	24243093		2203	4300	6503	SO:0001583	missense	55504			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.1102A>C	chr13.hg19:g.24243093A>C	ENSP00000371693:p.Asn368His		A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	hg19	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042549	0.55003	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.79749	-1.29;1.32;-1.3;-1.29	5.71	3.22	0.36961	.	0.505867	0.20968	N	0.082460	T	0.78892	0.4355	L	0.27053	0.805	0.09310	N	1	D;D;D	0.63880	0.986;0.993;0.993	P;P;P	0.58873	0.794;0.847;0.847	T	0.69176	-0.5214	10	0.66056	D	0.02	-3.4156	8.9366	0.35704	0.853:0.0:0.147:0.0	.	236;368;368	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	H	368;236;368;368	ENSP00000248484:N368H;ENSP00000385408:N236H;ENSP00000371693:N368H;ENSP00000371698:N368H	ENSP00000248484:N368H	N	+	1	0	TNFRSF19	23141093	0.007000	0.16637	0.000000	0.03702	0.006000	0.05464	0.827000	0.27421	0.422000	0.26005	0.533000	0.62120	AAC		0.413	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		C	24243093	A	C	24243093	3	2	465	1	0	0	0	0	1	0	0	0	16297	14	1	5	1132	5	TNFRSF19	13	24243093	Missense_Mutation	SNP	A	TCGA-BQ-5889-01A-11D-1589-08	3844221	24243093	90926785	32	25315											
CKAP2	26586	hgsc.bcm.edu	37	13	53042426	53042426	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr13:53042426T>A	ENST00000378037.5	+	7	1583	c.1493T>A	c.(1492-1494)aTg>aAg	p.M498K	CKAP2_ENST00000258607.5_Missense_Mutation_p.M497K|CKAP2_ENST00000490903.1_Missense_Mutation_p.M449K	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATTGAAGAGATGCGACACACG	0.299																																																0													97	100	99					13																	53042426		2203	4300	6503	SO:0001583	missense	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1493T>A	chr13.hg19:g.53042426T>A	ENSP00000367276:p.Met498Lys			Missense_Mutation	SNP	ENST00000378037.5	hg19	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	16.76	3.211433	0.58343	.	.	ENSG00000136108	ENST00000258607;ENST00000378037;ENST00000490903	T;T;T	0.26373	1.74;1.74;1.74	5.53	5.53	0.82687	.	0.149392	0.47093	D	0.000251	T	0.32941	0.0846	M	0.74881	2.28	0.43959	D	0.99663	P;P;P	0.42409	0.61;0.61;0.779	B;B;B	0.41036	0.346;0.346;0.346	T	0.23904	-1.0175	10	0.87932	D	0	-5.2435	12.0802	0.53667	0.0:0.0:0.0:1.0	.	449;498;497	E9PD90;Q8WWK9;B2RMQ4	.;CKAP2_HUMAN;.	K	497;498;449	ENSP00000258607:M497K;ENSP00000367276:M498K;ENSP00000417830:M449K	ENSP00000258607:M497K	M	+	2	0	CKAP2	51940427	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.810000	0.55613	2.100000	0.63781	0.533000	0.62120	ATG		0.299	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			A	53042426	T	A	53042426	3	1	465	1	0	0	0	0	1	0	0	0	3444	1464	51	5	1519	5	CKAP2	13	53042426	Missense_Mutation	SNP	T	TCGA-BQ-5889-01A-11D-1589-08	28799333	53042426	62127452	33	25316											
CLEC14A	161198	hgsc.bcm.edu	37	14	38723829	38723829	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr14:38723829C>T	ENST00000342213.2	-	1	1745	c.1399G>A	c.(1399-1401)Ggg>Agg	p.G467R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	467						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCACAGTCCCCGACTTTCACC	0.597																																																0													75	77	76					14																	38723829		2203	4300	6503	SO:0001583	missense	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1399G>A	chr14.hg19:g.38723829C>T	ENSP00000353013:p.Gly467Arg		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	hg19	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	8.642	0.896202	0.17686	.	.	ENSG00000176435	ENST00000342213	T	0.73681	-0.77	4.19	-6.15	0.02105	.	0.640736	0.12966	N	0.424617	T	0.50343	0.1610	L	0.27053	0.805	0.09310	N	1	B	0.20459	0.045	B	0.09377	0.004	T	0.33624	-0.9861	10	0.87932	D	0	-0.4303	2.5087	0.04652	0.1371:0.2062:0.1279:0.5287	.	467	Q86T13	CLC14_HUMAN	R	467	ENSP00000353013:G467R	ENSP00000353013:G467R	G	-	1	0	CLEC14A	37793580	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.081000	0.14823	-1.071000	0.03145	-0.253000	0.11424	GGG		0.597	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		T	38723829	C	T	38723829	3	4	465	1	0	0	0	0	1	0	0	0	3501	652	23	1	77	1	CLEC14A	14	38723829	Missense_Mutation	SNP	C	TCGA-BQ-5889-01A-11D-1589-08		38723829	68625711	34	25317											
C15orf2	23742	hgsc.bcm.edu	37	15	24923231	24923231	+	Silent	SNP	T	T	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr15:24923231T>A	ENST00000329468.2	+	1	2691	c.2217T>A	c.(2215-2217)acT>acA	p.T739T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	739					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCGGCAACACTGCCTCAGTCC	0.557																																																0													108	110	109					15																	24923231		2203	4300	6503	SO:0001819	synonymous_variant	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2217T>A	chr15.hg19:g.24923231T>A				Silent	SNP	ENST00000329468.2	hg19	CCDS10015.1																																																																																				0.557	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		A	24923231	T	A	24923231	2	1	465	1	0	0	0	0	0	0	0	1	1786	1567	55	5		5	C15orf2	15	24923231	Silent	SNP	T	TCGA-BQ-5889-01A-11D-1589-08		24923231	77608161	35	25318											
HERC2	8924	hgsc.bcm.edu	37	15	28510872	28510872	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr15:28510872T>A	ENST00000261609.7	-	14	1870	c.1762A>T	c.(1762-1764)Agt>Tgt	p.S588C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCGTCCTCACTGGAGCCTTCA	0.577																																																0													123	92	102					15																	28510872		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1762A>T	chr15.hg19:g.28510872T>A	ENSP00000261609:p.Ser588Cys			Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	31	5.104071	0.94245	.	.	ENSG00000128731	ENST00000261609	D	0.85411	-1.98	5.83	5.83	0.93111	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	L	0.48986	1.54	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.90297	0.4327	10	0.52906	T	0.07	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	588	O95714	HERC2_HUMAN	C	588	ENSP00000261609:S588C	ENSP00000261609:S588C	S	-	1	0	HERC2	26184467	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.629000	0.83207	2.367000	0.80283	0.529000	0.55759	AGT		0.577	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28510872	T	A	28510872	3	1	465	1	0	0	0	0	1	0	0	0	7060	1580	55	5	13062	5	HERC2	15	28510872	Missense_Mutation	SNP	T	TCGA-BQ-5889-01A-11D-1589-08	3587641	28510872	74020520	36	25319											
TMEM62	80021	hgsc.bcm.edu	37	15	43426530	43426530	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr15:43426530A>G	ENST00000260403.2	+	2	535	c.256A>G	c.(256-258)Att>Gtt	p.I86V		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	86						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTCTGAAACTATTGACATCAT	0.507																																																0													110	93	99					15																	43426530		2203	4299	6502	SO:0001583	missense	80021			BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.256A>G	chr15.hg19:g.43426530A>G	ENSP00000260403:p.Ile86Val		Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	hg19	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	A	7.057	0.565544	0.13560	.	.	ENSG00000137842	ENST00000260403	T	0.22945	1.93	4.97	2.62	0.31277	.	0.161216	0.53938	D	0.000050	T	0.09379	0.0231	N	0.05259	-0.085	0.43708	D	0.996176	B	0.12630	0.006	B	0.15484	0.013	T	0.18209	-1.0344	10	0.05833	T	0.94	-8.7407	8.1815	0.31313	0.8138:0.0:0.1862:0.0	.	86	Q0P6H9	TMM62_HUMAN	V	86	ENSP00000260403:I86V	ENSP00000260403:I86V	I	+	1	0	TMEM62	41213822	0.969000	0.33509	1.000000	0.80357	0.998000	0.95712	1.160000	0.31761	0.912000	0.36772	0.533000	0.62120	ATT		0.507	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		G	43426530	A	G	43426530	3	3	465	1	0	0	0	0	1	0	0	0	16194	449	16	3	262	3	TMEM62	15	43426530	Missense_Mutation	SNP	A	TCGA-BQ-5889-01A-11D-1589-08	14915658	43426530	59104862	37	25320											
FES	2242	hgsc.bcm.edu	37	15	91438758	91438758	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr15:91438758G>T	ENST00000328850.3	+	19	2581	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D	FES_ENST00000444422.2_Missense_Mutation_p.E743D|FES_ENST00000450438.2_Missense_Mutation_p.E685D|FES_ENST00000414248.2_Missense_Mutation_p.E685D|FES_ENST00000394300.3_Missense_Mutation_p.E755D|FES_ENST00000394302.1_Missense_Mutation_p.E672D	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	813	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCTACCAGGAGCTGCAGAGCA	0.642																																																0													60	60	60					15																	91438758		2198	4298	6496	SO:0001583	missense	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2439G>T	chr15.hg19:g.91438758G>T	ENSP00000331504:p.Glu813Asp		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	hg19	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789274	0.31685	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08	4.18	3.25	0.37280	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.164239	0.53938	D	0.000058	T	0.37999	0.1024	N	0.25031	0.7	0.44780	D	0.997783	B;B;B;B;B;B	0.13594	0.001;0.008;0.001;0.001;0.008;0.001	B;B;B;B;B;B	0.14023	0.004;0.01;0.003;0.002;0.01;0.004	T	0.16394	-1.0404	10	0.19147	T	0.46	-35.8073	9.2926	0.37795	0.0886:0.1513:0.7602:0.0	.	795;685;672;755;743;813	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	D	813;685;672;743;755;685	ENSP00000331504:E813D;ENSP00000414629:E685D;ENSP00000377839:E672D;ENSP00000400868:E743D;ENSP00000377837:E755D;ENSP00000409915:E685D	ENSP00000331504:E813D	E	+	3	2	FES	89239762	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.776000	0.26704	2.339000	0.79563	0.555000	0.69702	GAG		0.642	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		T	91438758	G	T	91438758	3	4	465	1	0	0	0	0	1	0	0	0	5822	962	34	4	2509	4	FES	15	91438758	Missense_Mutation	SNP	G	TCGA-BQ-5889-01A-11D-1589-08	48012228	91438758	11092634	38	25321											
DECR2	26063	hgsc.bcm.edu	37	16	457438	457438	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr16:457438T>G	ENST00000219481.5	+	4	353	c.215T>G	c.(214-216)cTg>cGg	p.L72R	DECR2_ENST00000397710.1_Missense_Mutation_p.L123R|DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Missense_Mutation_p.L60R	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	72					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GCCAGGAAGCTGGCTGGGGCC	0.652																																																0													26	31	29					16																	457438		2201	4299	6500	SO:0001583	missense	26063			AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2754	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 17C, member 1"	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.215T>G	chr16.hg19:g.457438T>G	ENSP00000219481:p.Leu72Arg		Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	hg19	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096100	0.56075	.	.	ENSG00000242612	ENST00000219481;ENST00000397710;ENST00000424398	T;T	0.54071	0.59;0.59	4.89	4.89	0.63831	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80446	-0.1379	10	0.87932	D	0	.	12.2476	0.54578	0.0:0.0:0.0:1.0	.	72	Q9NUI1	DECR2_HUMAN	R	72;123;60	ENSP00000219481:L72R;ENSP00000400374:L60R	ENSP00000219481:L72R	L	+	2	0	DECR2	397439	1.000000	0.71417	0.987000	0.45799	0.506000	0.33950	7.499000	0.81566	1.831000	0.53308	0.459000	0.35465	CTG		0.652	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		G	457438	T	G	457438	3	3	465	1	0	0	0	0	1	0	0	0	4385	1580	55	5	229	5	DECR2	16	457438	Missense_Mutation	SNP	T	TCGA-BQ-5889-01A-11D-1589-08		457438	89897315	39	25322											
TSC2	7249	hgsc.bcm.edu	37	16	2126139	2126139	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr16:2126139T>C	ENST00000219476.3	+	24	3340	c.2710T>C	c.(2710-2712)Ttc>Ctc	p.F904L	TSC2_ENST00000401874.2_Missense_Mutation_p.F904L|TSC2_ENST00000350773.4_Missense_Mutation_p.F904L|TSC2_ENST00000568454.1_Missense_Mutation_p.F915L|TSC2_ENST00000382538.6_Missense_Mutation_p.F855L|TSC2_ENST00000439673.2_Missense_Mutation_p.F867L|TSC2_ENST00000353929.4_Missense_Mutation_p.F904L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	904					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCGCCTGCCCTTCCGGAAGGA	0.567			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													117	94	102					16																	2126139		2198	4300	6498	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2710T>C	chr16.hg19:g.2126139T>C	ENSP00000219476:p.Phe904Leu		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281054	0.59758	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.09	5.09	0.68999	Tuberin-type domain (1);	0.056979	0.64402	D	0.000001	T	0.81221	0.4777	N	0.14661	0.345	0.51012	D	0.999905	B;B;B;B;B;D	0.59357	0.101;0.313;0.176;0.021;0.082;0.985	B;B;B;B;B;D	0.72338	0.147;0.174;0.091;0.132;0.103;0.977	T	0.77351	-0.2620	10	0.02654	T	1	-38.9999	9.422	0.38557	0.0:0.0795:0.0:0.9205	.	855;867;904;904;904;904	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	L	904;904;904;867;855;904	ENSP00000219476:F904L;ENSP00000384468:F904L;ENSP00000248099:F904L;ENSP00000399232:F867L;ENSP00000371978:F855L;ENSP00000344383:F904L	ENSP00000219476:F904L	F	+	1	0	TSC2	2066140	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.116000	0.64661	1.919000	0.55581	0.459000	0.35465	TTC		0.567	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		C	2126139	T	C	2126139	3	2	465	1	0	0	0	0	1	0	0	0	16611	1609	56	3	2800	3	TSC2	16	2126139	Missense_Mutation	SNP	T	TCGA-BQ-5889-01A-11D-1589-08	1668701	2126139	88228614	40	25323											
PRPF8	10594	hgsc.bcm.edu	37	17	1564455	1564455	+	Splice_Site	SNP	A	A	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:1564455A>T	ENST00000572621.1	-	27	4605	c.4340T>A	c.(4339-4341)gTt>gAt	p.V1447D	PRPF8_ENST00000304992.6_Splice_Site_p.V1447D			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1447	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTGCTTCAAAACCTAGATGGC	0.547																																																0													82	73	76					17																	1564455		2203	4300	6503	SO:0001630	splice_region_variant	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4339-1T>A	chr17.hg19:g.1564455A>T			O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	hg19	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	a	12.99	2.102694	0.37145	.	.	ENSG00000174231	ENST00000304992	T	0.80994	-1.44	6.17	6.17	0.99709	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.80999	0.4732	L	0.47716	1.5	0.80722	D	1	P	0.42620	0.785	P	0.45794	0.493	T	0.82474	-0.0439	10	0.66056	D	0.02	-2.8406	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1447	Q6P2Q9	PRP8_HUMAN	D	1447	ENSP00000304350:V1447D	ENSP00000304350:V1447D	V	-	2	0	PRPF8	1511205	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	9.307000	0.96226	2.371000	0.80710	0.533000	0.62120	GTT		0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		Missense_Mutation	T	1564455	A	T	1564455	5	4	465	1	0	0	0	0	0	0	1	0	12580	57	2	5	2731	5	PRPF8	17	1564455	Splice_Site	SNP	A	TCGA-BQ-5889-01A-11D-1589-08		1564455	79630755	41	25324											
NEURL4	84461	hgsc.bcm.edu	37	17	7220554	7220554	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:7220554G>A	ENST00000399464.2	-	28	4469	c.4454C>T	c.(4453-4455)gCt>gTt	p.A1485V	NEURL4_ENST00000315614.7_Missense_Mutation_p.A1483V|GPS2_ENST00000389167.5_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.A1461V|GPS2_ENST00000391950.3_5'Flank|NEURL4_ENST00000574120.1_5'Flank|RP11-542C16.2_ENST00000575474.1_Silent_p.L299L|GPS2_ENST00000380728.2_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1485						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCGCCCCAGCATATTGAAG	0.647																																																0													27	29	28					17																	7220554		1909	4108	6017	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4454C>T	chr17.hg19:g.7220554G>A	ENSP00000382390:p.Ala1485Val		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	hg19	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522700	0.85600	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.38722	1.12;1.12	5.02	5.02	0.67125	.	0.068616	0.64402	D	0.000017	T	0.49575	0.1565	M	0.71581	2.175	0.40718	D	0.982632	P;P	0.44139	0.827;0.734	B;B	0.43386	0.418;0.239	T	0.59747	-0.7396	10	0.72032	D	0.01	-10.282	17.1077	0.86668	0.0:0.0:1.0:0.0	.	1483;1485	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	V	1483;1485	ENSP00000319826:A1483V;ENSP00000382390:A1485V	ENSP00000319826:A1483V	A	-	2	0	NEURL4	7161278	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.975000	0.70475	2.325000	0.78763	0.462000	0.41574	GCT		0.647	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		A	7220554	G	A	7220554	3	1	465	1	0	0	0	0	1	0	0	0	10349	971	34	2	242	2	NEURL4	17	7220554	Missense_Mutation	SNP	G	TCGA-BQ-5889-01A-11D-1589-08	5656099	7220554	73974656	42	25325											
MYH10	4628	hgsc.bcm.edu	37	17	8452026	8452026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:8452026delT	ENST00000269243.4	-	9	1107	c.969delA	c.(967-969)aaafs	p.K323fs	MYH10_ENST00000379980.4_Frame_Shift_Del_p.K339fs|MYH10_ENST00000360416.3_Frame_Shift_Del_p.K333fs|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000396239.1_Frame_Shift_Del_p.K323fs	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	323	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGAAATTATCTTTGTCTTGCT	0.383																																																0													163	160	161					17																	8452026		2203	4300	6503	SO:0001589	frameshift_variant	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.969delA	chr17.hg19:g.8452026delT	ENSP00000269243:p.Lys323fs		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Frame_Shift_Del	DEL	ENST00000269243.4	hg19	CCDS11144.1																																																																																				0.383	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			-	8452026	T	-	8452026	7	5	465	1	0	1	0	1	0	0	0	0	10032	1606	56	0	5093	0	MYH10	17	8452026	Frame_Shift_Del	DEL	T	TCGA-BQ-5889-01A-11D-1589-08	1231472	8452026	72743184	43	25326											
SCRN2	90507	hgsc.bcm.edu	37	17	45915217	45915217	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:45915217T>C	ENST00000290216.9	-	8	1396	c.1271A>G	c.(1270-1272)tAt>tGt	p.Y424C	SCRN2_ENST00000407215.3_3'UTR|SCRN2_ENST00000584123.1_Missense_Mutation_p.Y432C	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	424						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						AGCTTACGCATAAGCCTGGCT	0.657																																																0													24	26	25					17																	45915217		2203	4300	6503	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.1271A>G	chr17.hg19:g.45915217T>C	ENSP00000290216:p.Tyr424Cys		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	hg19	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.631333	0.28978	.	.	ENSG00000141295	ENST00000290216	T	0.09817	2.94	5.72	5.72	0.89469	.	0.114320	0.64402	D	0.000008	T	0.37237	0.0996	M	0.83953	2.67	0.53688	D	0.999977	D	0.89917	1.0	D	0.85130	0.997	T	0.26538	-1.0100	10	0.87932	D	0	-1.5376	14.9863	0.71351	0.0:0.0:0.0:1.0	.	424	Q96FV2	SCRN2_HUMAN	C	424	ENSP00000290216:Y424C	ENSP00000290216:Y424C	Y	-	2	0	SCRN2	43270216	1.000000	0.71417	0.037000	0.18230	0.025000	0.11179	5.686000	0.68211	2.184000	0.69523	0.533000	0.62120	TAT		0.657	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		C	45915217	T	C	45915217	3	2	465	1	0	0	0	0	1	0	0	0	13945	1406	49	3	10	3	SCRN2	17	45915217	Missense_Mutation	SNP	T	TCGA-BQ-5889-01A-11D-1589-08	37463191	45915217	35279993	44	25327											
TEX2	55852	hgsc.bcm.edu	37	17	62290509	62290509	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:62290509C>T	ENST00000583097.1	-	2	1241	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	TEX2_ENST00000258991.3_Missense_Mutation_p.G357S|TEX2_ENST00000584379.1_Missense_Mutation_p.G357S			Q8IWB9	TEX2_HUMAN	testis expressed 2	357					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTTCCGTAGCCATCCCCCTCA	0.498																																																0													85	76	79					17																	62290509		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1069G>A	chr17.hg19:g.62290509C>T	ENSP00000462665:p.Gly357Ser		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	hg19		.	.	.	.	.	.	.	.	.	.	C	5.664	0.307054	0.10733	.	.	ENSG00000136478	ENST00000258991	T	0.42513	0.97	6.03	3.96	0.45880	.	0.773939	0.13084	N	0.415036	T	0.20820	0.0501	N	0.08118	0	0.09310	N	1	B;B	0.20261	0.043;0.025	B;B	0.20577	0.03;0.013	T	0.27191	-1.0081	10	0.11485	T	0.65	-0.2203	8.1607	0.31196	0.5291:0.374:0.0969:0.0	.	357;357	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	S	357	ENSP00000258991:G357S	ENSP00000258991:G357S	G	-	1	0	TEX2	59644241	0.137000	0.22531	0.007000	0.13788	0.465000	0.32709	1.751000	0.38339	0.809000	0.34255	0.655000	0.94253	GGC		0.498	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		T	62290509	C	T	62290509	3	4	465	1	0	0	0	0	1	0	0	0	15786	594	21	2	2379	2	TEX2	17	62290509	Missense_Mutation	SNP	C	TCGA-BQ-5889-01A-11D-1589-08	16375292	62290509	18904701	45	25328											
PRPSAP1	5635	hgsc.bcm.edu	37	17	74307703	74307703	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr17:74307703delT	ENST00000446526.3	-	10	1523	c.1078delA	c.(1078-1080)attfs	p.I360fs	PRPSAP1_ENST00000324684.4_Frame_Shift_Del_p.I257fs|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	331					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TCAGAAAGAATCAAACTGATA	0.468																																																0													154	120	131					17																	74307703		2203	4300	6503	SO:0001589	frameshift_variant	5635			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.1078delA	chr17.hg19:g.74307703delT	ENSP00000414624:p.Ile360fs		B2R6M4|Q96H06	Frame_Shift_Del	DEL	ENST00000446526.3	hg19	CCDS11743.2																																																																																				0.468	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		-	74307703	T	-	74307703	7	5	465	1	0	1	0	1	0	0	0	0	12586	1435	50	0	83	0	PRPSAP1	17	74307703	Frame_Shift_Del	DEL	T	TCGA-BQ-5889-01A-11D-1589-08	12017194	74307703	6887507	46	25329											
MYO1F	4542	hgsc.bcm.edu	37	19	8604865	8604865	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chr19:8604865T>G	ENST00000338257.8	-	16	1925	c.1658A>C	c.(1657-1659)aAg>aCg	p.K553T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	553	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGGCGCCCCTTCTTGTCTCC	0.632																																																0													40	43	42					19																	8604865		1904	4113	6017	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1658A>C	chr19.hg19:g.8604865T>G	ENSP00000344871:p.Lys553Thr		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	hg19	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577175	0.86645	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.88201	-2.35	5.01	5.01	0.66863	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93249	0.7849	M	0.73217	2.22	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.93407	0.6765	10	0.52906	T	0.07	.	13.55	0.61726	0.0:0.0:0.0:1.0	.	553	O00160	MYO1F_HUMAN	T	598;553	ENSP00000344871:K553T	ENSP00000304899:K598T	K	-	2	0	MYO1F	8510865	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.902000	0.69869	1.891000	0.54761	0.482000	0.46254	AAG		0.632	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			G	8604865	T	G	8604865	3	3	465	1	0	0	0	0	1	0	0	0	10075	1609	56	5	1690	5	MYO1F	19	8604865	Missense_Mutation	SNP	T	TCGA-BQ-5889-01A-11D-1589-08		8604865	50524118	47	25330											
GPRASP1	9737	hgsc.bcm.edu	37	X	101910683	101910683	+	Silent	SNP	G	G	C			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chrX:101910683G>C	ENST00000361600.5	+	5	2643	c.1842G>C	c.(1840-1842)ggG>ggC	p.G614G	GPRASP1_ENST00000444152.1_Silent_p.G614G|GPRASP1_ENST00000415986.1_Silent_p.G614G|GPRASP1_ENST00000537097.1_Silent_p.G614G|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	614	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCATTATTGGGTCCTGGTTTT	0.512																																																0													104	103	103					X																	101910683		2203	4300	6503	SO:0001819	synonymous_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1842G>C	chrX.hg19:g.101910683G>C			O43168|Q96LA1	Silent	SNP	ENST00000361600.5	hg19	CCDS35352.1																																																																																				0.512	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		C	101910683	G	C	101910683	2	2	465	1	0	0	0	0	0	0	0	1	6724	1248	44	4		4	GPRASP1	23	101910683	Silent	SNP	G	TCGA-BQ-5889-01A-11D-1589-08		101910683	53359877	48	25331											
F8	2157	hgsc.bcm.edu	37	X	154157883	154157883	+	Silent	SNP	C	C	T			TCGA-BQ-5889-01A-11D-1589-08	TCGA-BQ-5889-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	46b1253a-f381-46d3-ad7d-e0ed2bda9eff	fc277028-a6e0-4459-8608-40506e4c36cb	g.chrX:154157883C>T	ENST00000360256.4	-	14	4382	c.4182G>A	c.(4180-4182)acG>acA	p.T1394T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1394	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TATGACTCCTCGTAAGGCAAT	0.428																																																0													166	149	154					X																	154157883		2203	4300	6503	SO:0001819	synonymous_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4182G>A	chrX.hg19:g.154157883C>T			Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	hg19	CCDS35457.1																																																																																				0.428	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			T	154157883	C	T	154157883	2	4	465	1	0	0	0	0	0	0	0	1	5352	871	31	1		1	F8	23	154157883	Silent	SNP	C	TCGA-BQ-5889-01A-11D-1589-08	52247200	154157883	1112677	49	25332											
ATP13A2	23400	hgsc.bcm.edu	37	1	17322884	17322884	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:17322884G>T	ENST00000326735.8	-	13	1336	c.1303C>A	c.(1303-1305)Ctg>Atg	p.L435M	ATP13A2_ENST00000452699.1_Missense_Mutation_p.L430M|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_Intron|ATP13A2_ENST00000341676.5_Missense_Mutation_p.L430M			Q9NQ11	AT132_HUMAN	ATPase type 13A2	435					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CACTCACCCAGGACAGAGAGG	0.612																																																0													69	78	75					1																	17322884		2203	4300	6503	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1303C>A	chr1.hg19:g.17322884G>T	ENSP00000327214:p.Leu435Met		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	hg19	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879903	0.51801	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	4.69	2.76	0.32466	ATPase, P-type, ATPase-associated domain (1);	0.545880	0.17421	N	0.174829	D	0.93462	0.7914	M	0.71871	2.18	0.40886	D	0.984039	P;P;D;P	0.53745	0.489;0.898;0.962;0.656	B;P;P;P	0.62491	0.314;0.672;0.903;0.579	D	0.90678	0.4603	10	0.59425	D	0.04	.	4.3183	0.11003	0.2691:0.1732:0.5577:0.0	.	148;430;430;435	Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.;.;.;AT132_HUMAN	M	435;430;430;149	ENSP00000327214:L435M;ENSP00000341115:L430M;ENSP00000413307:L430M;ENSP00000424393:L149M	ENSP00000327214:L435M	L	-	1	2	ATP13A2	17195471	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	1.657000	0.37366	0.383000	0.24910	-0.258000	0.10820	CTG		0.612	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		T	17322884	G	T	17322884	3	4	466	1	0	0	0	0	1	0	0	0	1124	991	35	4	2543	4	ATP13A2	1	17322884	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08		17322884	231927737	1	25333											
CACNA1S	779	hgsc.bcm.edu	37	1	201030589	201030589	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:201030589A>G	ENST00000362061.3	-	25	3287	c.3061T>C	c.(3061-3063)Tac>Cac	p.Y1021H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.Y1021H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1021	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGGCCTTGTACAGCAGCCTG	0.557																																																0													99	91	94					1																	201030589		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3061T>C	chr1.hg19:g.201030589A>G	ENSP00000355192:p.Tyr1021His		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	hg19	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507446	0.85282	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97529	-4.42;-4.42	5.21	5.21	0.72293	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98639	0.9544	M	0.89968	3.075	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.99751	1.1018	10	0.72032	D	0.01	.	15.3483	0.74359	1.0:0.0:0.0:0.0	.	1021	Q13698	CAC1S_HUMAN	H	1021	ENSP00000355192:Y1021H;ENSP00000356307:Y1021H	ENSP00000355192:Y1021H	Y	-	1	0	CACNA1S	199297212	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.889000	0.92470	2.087000	0.62958	0.459000	0.35465	TAC		0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		G	201030589	A	G	201030589	3	3	466	1	0	0	0	0	1	0	0	0	2549	391	14	3	2640	3	CACNA1S	1	201030589	Missense_Mutation	SNP	A	TCGA-BQ-5890-01A-11D-1589-08	183707705	201030589	48220032	2	25334											
NAV1	89796	hgsc.bcm.edu	37	1	201781618	201781618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:201781618G>T	ENST00000367296.4	+	27	5470	c.5050G>T	c.(5050-5052)Gag>Tag	p.E1684*	NAV1_ENST00000367300.3_Nonsense_Mutation_p.E1624*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Nonsense_Mutation_p.E1637*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.E1681*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.E1676*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.E1290*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1684					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CAACAACGTGGAGCCAGCCAA	0.562																																																0													131	108	116					1																	201781618		2203	4300	6503	SO:0001587	stop_gained	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5050G>T	chr1.hg19:g.201781618G>T	ENSP00000356265:p.Glu1684*		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Nonsense_Mutation	SNP	ENST00000367296.4	hg19	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	48	14.566335	0.99801	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.9888	20.2191	0.98319	0.0:0.0:1.0:0.0	.	.	.	.	X	1637;1684;1681;1676;1624;1290;93	.	ENSP00000295624:E1681X	E	+	1	0	NAV1	200048241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.753000	0.98904	2.866000	0.98385	0.650000	0.86243	GAG		0.562	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		T	201781618	G	T	201781618	4	4	466	1	0	0	0	0	0	1	0	0	10185	1175	41	4	5213	4	NAV1	1	201781618	Nonsense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	751029	201781618	47469003	3	25335											
PLEKHA6	22874	hgsc.bcm.edu	37	1	204236626	204236626	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:204236626T>A	ENST00000272203.3	-	5	573	c.257A>T	c.(256-258)gAt>gTt	p.D86V	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.D86V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	86	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GAGGCAGCGATCCACCAGGAC	0.592																																																0													114	85	95					1																	204236626		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.257A>T	chr1.hg19:g.204236626T>A	ENSP00000272203:p.Asp86Val		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	hg19	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554500	0.86231	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.15017	2.46;2.46	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.86573	2.825	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.56962	-0.7892	10	0.87932	D	0	-24.5699	15.2951	0.73898	0.0:0.0:0.0:1.0	.	86	Q9Y2H5	PKHA6_HUMAN	V	86	ENSP00000272203:D86V;ENSP00000402046:D86V	ENSP00000272203:D86V	D	-	2	0	PLEKHA6	202503249	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	6.511000	0.73733	2.086000	0.62901	0.448000	0.29417	GAT		0.592	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		A	204236626	T	A	204236626	3	1	466	1	0	0	0	0	1	0	0	0	12062	1435	50	5	2961	5	PLEKHA6	1	204236626	Missense_Mutation	SNP	T	TCGA-BQ-5890-01A-11D-1589-08	2455008	204236626	45013995	4	25336											
KIAA1804	84451	hgsc.bcm.edu	37	1	233518317	233518317	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:233518317A>G	ENST00000366624.3	+	10	3232	c.2971A>G	c.(2971-2973)Aga>Gga	p.R991G	MLK4_ENST00000366622.1_Missense_Mutation_p.R437G	NM_032435.2	NP_115811.2																					TGCCAAGGAGAGAACTAAATC	0.557																																																0													118	102	108					1																	233518317		2203	4300	6503	SO:0001583	missense	0																														ENST00000366624.3:c.2971A>G	chr1.hg19:g.233518317A>G	ENSP00000355583:p.Arg991Gly			Missense_Mutation	SNP	ENST00000366624.3	hg19	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760485	0.49468	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.74947	-0.89;3.17	4.55	4.55	0.56014	.	0.160789	0.30428	U	0.009649	T	0.61236	0.2331	N	0.22421	0.69	0.33546	D	0.59548	P;B	0.40619	0.724;0.029	B;B	0.38500	0.275;0.023	T	0.73569	-0.3941	10	0.48119	T	0.1	.	12.6166	0.56580	1.0:0.0:0.0:0.0	.	438;991	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	G	991;437	ENSP00000355583:R991G;ENSP00000355581:R437G	ENSP00000355581:R437G	R	+	1	2	RP5-862P8.2	231584940	0.995000	0.38212	0.055000	0.19348	0.009000	0.06853	2.656000	0.46716	1.908000	0.55244	0.460000	0.39030	AGA		0.557	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			G	233518317	A	G	233518317	3	3	466	1	0	0	0	0	1	0	0	0	8261	296	11	3	3009	3	KIAA1804	1	233518317	Missense_Mutation	SNP	A	TCGA-BQ-5890-01A-11D-1589-08	29281691	233518317	15732304	5	25337											
TBCE	6905	hgsc.bcm.edu	37	1	235599915	235599915	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:235599915A>C	ENST00000366601.3	+	11	1131	c.955A>C	c.(955-957)Ata>Cta	p.I319L	TBCE_ENST00000543662.1_Missense_Mutation_p.I370L|TBCE_ENST00000406207.1_Missense_Mutation_p.I319L|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	319					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CGACAATCAGATATCACAAGT	0.428																																																0													127	121	123					1																	235599915		2203	4300	6503	SO:0001583	missense	6905			U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"tubulin-specific chaperone e", "Kenny-Caffey syndrome", "hypoparathyroidism, growth and mental retardation, and dysmorphism"	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.955A>C	chr1.hg19:g.235599915A>C	ENSP00000355560:p.Ile319Leu		A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	hg19	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163199	0.78226	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.25414	1.8;1.8;1.8	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	L	0.52823	1.66	0.58432	D	0.999993	D;B;P	0.60575	0.988;0.391;0.538	P;B;P	0.52309	0.695;0.194;0.545	T	0.04723	-1.0931	10	0.15952	T	0.53	-23.5139	12.9072	0.58160	1.0:0.0:0.0:0.0	.	370;319;319	B7Z3P1;A8K8C2;Q15813	.;.;TBCE_HUMAN	L	319;319;370	ENSP00000355560:I319L;ENSP00000384571:I319L;ENSP00000439170:I370L	ENSP00000355560:I319L	I	+	1	0	TBCE	233666538	1.000000	0.71417	0.946000	0.38457	0.879000	0.50718	5.808000	0.69165	2.053000	0.61076	0.533000	0.62120	ATA		0.428	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		C	235599915	A	C	235599915	3	2	466	1	0	0	0	0	1	0	0	0	15639	333	12	5	993	5	TBCE	1	235599915	Missense_Mutation	SNP	A	TCGA-BQ-5890-01A-11D-1589-08	2081598	235599915	13650706	6	25338											
TFCP2L1	29842	hgsc.bcm.edu	37	2	121991738	121991738	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr2:121991738C>T	ENST00000263707.5	-	12	1224	c.1127G>A	c.(1126-1128)tGt>tAt	p.C376Y		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	376					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CAGCTCCTGACAGACATAAAT	0.532																																																0													103	91	95					2																	121991738		2203	4300	6503	SO:0001583	missense	29842			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1127G>A	chr2.hg19:g.121991738C>T	ENSP00000263707:p.Cys376Tyr		Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	hg19	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941307	0.73557	.	.	ENSG00000115112	ENST00000263707	T	0.26067	1.76	5.7	4.83	0.62350	.	0.152997	0.64402	D	0.000010	T	0.49677	0.1571	M	0.81942	2.565	0.80722	D	1	D	0.61080	0.989	P	0.60886	0.88	T	0.55730	-0.8095	10	0.56958	D	0.05	.	14.5903	0.68359	0.0:0.93:0.0:0.07	.	376	Q9NZI6	TF2L1_HUMAN	Y	376	ENSP00000263707:C376Y	ENSP00000263707:C376Y	C	-	2	0	TFCP2L1	121708208	1.000000	0.71417	0.994000	0.49952	0.818000	0.46254	6.831000	0.75324	1.426000	0.47256	0.549000	0.68633	TGT		0.532	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		T	121991738	C	T	121991738	3	4	466	1	0	0	0	0	1	0	0	0	15801	478	17	2	328	2	TFCP2L1	2	121991738	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08		121991738	121207635	7	25339											
C2orf24	27013	hgsc.bcm.edu	37	2	220039577	220039577	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr2:220039577T>G	ENST00000409789.1	-	6	860	c.433A>C	c.(433-435)Aac>Cac	p.N145H	CNPPD1_ENST00000360507.5_Missense_Mutation_p.N145H			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	145					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CATTCGTCGTTGAAGACCTCC	0.577																																																0													86	80	82					2																	220039577		2203	4300	6503	SO:0001583	missense	27013			AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 24"	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.433A>C	chr2.hg19:g.220039577T>G	ENSP00000386277:p.Asn145His		B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	hg19	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250866	0.80135	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038;ENST00000451647	T;T;T	0.58940	0.3;0.3;0.3	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.81192	0.4771	M	0.93638	3.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86432	0.1761	10	0.87932	D	0	-21.9189	13.8616	0.63564	0.0:0.0:0.0:1.0	.	145	Q9BV87	CNPD1_HUMAN	H	145;145;145;172	ENSP00000353698:N145H;ENSP00000386277:N145H;ENSP00000410109:N145H	ENSP00000353698:N145H	N	-	1	0	CNPPD1	219747821	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.766000	0.85320	1.873000	0.54277	0.459000	0.35465	AAC		0.577	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		G	220039577	T	G	220039577	3	3	466	1	0	0	0	0	1	0	0	0	2161	1812	63	5	815	5	C2orf24	2	220039577	Missense_Mutation	SNP	T	TCGA-BQ-5890-01A-11D-1589-08	98047839	220039577	23159796	8	25340											
AGXT	189	hgsc.bcm.edu	37	2	241808770	241808770	+	Missense_Mutation	SNP	G	G	A	rs180177208		TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr2:241808770G>A	ENST00000307503.3	+	2	736	c.349G>A	c.(349-351)Gag>Aag	p.E117K		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	117					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GGACATCGGGGAGCGCATAGG	0.657																																																0													51	52	52					2																	241808770		2203	4300	6503	SO:0001583	missense	189			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.349G>A	chr2.hg19:g.241808770G>A	ENSP00000302620:p.Glu117Lys		Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	hg19	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	G	6.004	0.369211	0.11352	.	.	ENSG00000172482	ENST00000307503	D	0.85702	-2.02	4.12	4.12	0.48240	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.160335	0.53938	D	0.000048	T	0.80681	0.4669	L	0.60067	1.865	0.49915	D	0.999836	B;B	0.14012	0.004;0.009	B;B	0.17979	0.012;0.02	T	0.75516	-0.3290	10	0.27785	T	0.31	-32.4358	10.2905	0.43592	0.151:0.0:0.849:0.0	.	117;117	B7Z548;P21549	.;SPYA_HUMAN	K	117	ENSP00000302620:E117K	ENSP00000302620:E117K	E	+	1	0	AGXT	241457443	1.000000	0.71417	0.826000	0.32828	0.290000	0.27261	4.798000	0.62510	2.007000	0.58848	0.591000	0.81541	GAG		0.657	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		A	241808770	G	A	241808770	3	1	466	1	0	0	0	0	1	0	0	0	404	1175	41	2	355	2	AGXT	2	241808770	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	21769193	241808770	1390603	9	25341											
PASK	23178	hgsc.bcm.edu	37	2	242065794	242065794	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr2:242065794G>A	ENST00000405260.1	-	10	3234	c.2536C>T	c.(2536-2538)Cac>Tac	p.H846Y	PASK_ENST00000539818.1_Missense_Mutation_p.H630Y|PASK_ENST00000358649.4_Missense_Mutation_p.H846Y|PASK_ENST00000403638.3_Missense_Mutation_p.H846Y|PASK_ENST00000234040.4_Missense_Mutation_p.H846Y|PASK_ENST00000544142.1_Missense_Mutation_p.H660Y	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	846					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)		GAAGGAACGTGTCCTGGGCTT	0.572																																																0													159	149	152					2																	242065794		2203	4300	6503	SO:0001583	missense	23178			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.2536C>T	chr2.hg19:g.242065794G>A	ENSP00000384016:p.His846Tyr		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	hg19	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.619945	0.00828	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.66280	-0.2;-0.19;-0.2;-0.15;-0.19;0.81	3.24	-6.48	0.01896	.	1.203440	0.06016	N	0.650378	T	0.35856	0.0946	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.32365	0.367;0.011;0.032;0.031;0.09	B;B;B;B;B	0.28385	0.089;0.036;0.009;0.024;0.023	T	0.20773	-1.0265	10	0.31617	T	0.26	.	6.1419	0.20265	0.3709:0.0:0.4891:0.14	.	811;660;846;846;846	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	Y	846;660;846;846;630;846	ENSP00000234040:H846Y;ENSP00000441374:H660Y;ENSP00000384016:H846Y;ENSP00000351475:H846Y;ENSP00000443083:H630Y;ENSP00000384438:H846Y	ENSP00000234040:H846Y	H	-	1	0	PASK	241714467	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.416000	0.02467	-1.226000	0.02574	-1.169000	0.01745	CAC		0.572	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		A	242065794	G	A	242065794	3	1	466	1	0	0	0	0	1	0	0	0	11474	1377	48	2	1471	2	PASK	2	242065794	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	257024	242065794	1133579	10	25342											
ZNF502	91392	hgsc.bcm.edu	37	3	44763320	44763320	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr3:44763320C>G	ENST00000296091.4	+	4	1267	c.1011C>G	c.(1009-1011)aaC>aaG	p.N337K	ZNF502_ENST00000436624.2_Missense_Mutation_p.N337K|ZNF502_ENST00000449836.1_Missense_Mutation_p.N337K	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CAAAGGCAAACCTCTCTCAGC	0.403																																																0													57	61	60					3																	44763320		2203	4300	6503	SO:0001583	missense	91392			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1011C>G	chr3.hg19:g.44763320C>G	ENSP00000296091:p.Asn337Lys			Missense_Mutation	SNP	ENST00000296091.4	hg19	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.31|11.31	1.599882|1.599882	0.28534|0.28534	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624|ENST00000427783	T;T;T|.	0.07021|.	3.23;3.23;3.23|.	4.27|4.27	-1.17|-1.17	0.09648|0.09648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.14700|0.14700	0.0355|0.0355	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	P|.	0.35982|.	0.531|.	B|.	0.24155|.	0.051|.	T|T	0.29119|0.29119	-1.0022|-1.0022	9|6	0.10377|0.02654	T|T	0.69|1	.|.	1.6891|1.6891	0.02848|0.02848	0.1337:0.367:0.1313:0.368|0.1337:0.367:0.1313:0.368	.|.	337|.	Q8TBZ5|.	ZN502_HUMAN|.	K|S	337|337	ENSP00000397390:N337K;ENSP00000296091:N337K;ENSP00000406469:N337K|.	ENSP00000296091:N337K|ENSP00000397812:T337S	N|T	+|+	3|2	2|0	ZNF502|ZNF502	44738324|44738324	0.000000|0.000000	0.05858|0.05858	0.859000|0.859000	0.33776|0.33776	0.997000|0.997000	0.91878|0.91878	-1.664000|-1.664000	0.01966|0.01966	-0.114000|-0.114000	0.11936|0.11936	0.655000|0.655000	0.94253|0.94253	AAC|ACC		0.403	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		G	44763320	C	G	44763320	3	3	466	1	0	0	0	0	1	0	0	0	17955	506	18	4	1017	4	ZNF502	3	44763320	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08		44763320	153259110	11	25343											
NBEAL2	23218	hgsc.bcm.edu	37	3	47032943	47032943	+	Silent	SNP	G	G	T	rs181297174		TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr3:47032943G>T	ENST00000450053.3	+	8	869	c.690G>T	c.(688-690)ctG>ctT	p.L230L	NBEAL2_ENST00000292309.5_Silent_p.L230L|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	230					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGGGCCTGCTGAGTGTGGTGC	0.637																																																0													31	33	32					3																	47032943		2012	4187	6199	SO:0001819	synonymous_variant	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.690G>T	chr3.hg19:g.47032943G>T			O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	hg19	CCDS46817.1																																																																																				0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		T	47032943	G	T	47032943	2	4	466	1	0	0	0	0	0	0	0	1	10191	1277	45	4		4	NBEAL2	3	47032943	Silent	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	2269623	47032943	150989487	12	25344											
SETD2	29072	hgsc.bcm.edu	37	3	47143047	47143047	+	Splice_Site	SNP	T	T	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr3:47143047T>C	ENST00000409792.3	-	8	4960		c.e8-2			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.?(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CACAGTCCACTGAGATGATGT	0.408			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Unknown(2)	kidney(2)											109	108	108					3																	47143047		2203	4300	6503	SO:0001630	splice_region_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4918-2A>G	chr3.hg19:g.47143047T>C			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	27.7	4.856990	0.91433	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2291	0.82321	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47118051	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.955000	0.87856	2.238000	0.73509	0.528000	0.53228	.		0.408	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Intron	C	47143047	T	C	47143047	5	2	466	1	0	0	0	0	0	0	1	0	14137	1594	55	3	2834	3	SETD2	3	47143047	Splice_Site	SNP	T	TCGA-BQ-5890-01A-11D-1589-08	110104	47143047	150879383	13	25345											
PBRM1	55193	hgsc.bcm.edu	37	3	52696272	52696272	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr3:52696272delT	ENST00000296302.7	-	4	406	c.405delA	c.(403-405)aaafs	p.K135fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K135fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.K135fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K135fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K135fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K135fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K135fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K135fs			Q86U86	PB1_HUMAN	polybromo 1	135					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGCAAGCGGCTTTATATTCAG	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													110	106	107					3																	52696272		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.405delA	chr3.hg19:g.52696272delT	ENSP00000296302:p.Lys135fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	hg19																																																																																					0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52696272	T	-	52696272	7	5	466	1	0	1	0	1	0	0	0	0	11493	1606	56	0	4603	0	PBRM1	3	52696272	Frame_Shift_Del	DEL	T	TCGA-BQ-5890-01A-11D-1589-08	5553225	52696272	145326158	14	25346											
NPHP3	27031	hgsc.bcm.edu	37	3	132410108	132410108	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr3:132410108T>C	ENST00000337331.5	-	18	2584	c.2498A>G	c.(2497-2499)gAg>gGg	p.E833G	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	833					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCCAGGTACTCCAATCTCAC	0.388																																																0													163	169	167					3																	132410108		2203	4300	6503	SO:0001583	missense	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2498A>G	chr3.hg19:g.132410108T>C	ENSP00000338766:p.Glu833Gly		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	hg19	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525698	0.27299	.	.	ENSG00000113971	ENST00000393144;ENST00000337331	D	0.91577	-2.87	4.55	3.35	0.38373	.	0.108809	0.64402	D	0.000011	D	0.87977	0.6314	M	0.61703	1.905	0.80722	D	1	B	0.24258	0.1	B	0.24541	0.054	D	0.83643	0.0151	10	0.49607	T	0.09	-10.5568	10.9157	0.47135	0.0:0.0:0.1571:0.8429	.	833	Q7Z494	NPHP3_HUMAN	G	113;833	ENSP00000338766:E833G	ENSP00000338766:E833G	E	-	2	0	NPHP3	133892798	1.000000	0.71417	0.291000	0.24904	0.151000	0.21798	5.118000	0.64673	0.661000	0.30985	0.460000	0.39030	GAG		0.388	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		C	132410108	T	C	132410108	3	2	466	1	0	0	0	0	1	0	0	0	10582	1551	54	3	1534	3	NPHP3	3	132410108	Missense_Mutation	SNP	T	TCGA-BQ-5890-01A-11D-1589-08	79713836	132410108	65612322	15	25347											
STX18	53407	hgsc.bcm.edu	37	4	4436571	4436571	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:4436571C>T	ENST00000306200.2	-	7	691	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	STX18_ENST00000505286.1_Missense_Mutation_p.E210K	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	210					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GGTTGTGTTTCAGCCAAAATT	0.353																																																0													80	81	81					4																	4436571		2203	4300	6503	SO:0001583	missense	53407			AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.628G>A	chr4.hg19:g.4436571C>T	ENSP00000305810:p.Glu210Lys		Q596L3|Q5TZP5	Missense_Mutation	SNP	ENST00000306200.2	hg19	CCDS3377.1	.	.	.	.	.	.	.	.	.	.	C	9.694	1.152643	0.21371	.	.	ENSG00000168818	ENST00000505286;ENST00000306200;ENST00000512195;ENST00000507908	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.19	2.55	0.30701	.	0.372946	0.28388	N	0.015531	T	0.35828	0.0945	L	0.55103	1.725	0.09310	N	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.30563	-0.9974	10	0.09338	T	0.73	-1.7145	8.2654	0.31810	0.0:0.7549:0.0:0.2451	.	210	Q9P2W9	STX18_HUMAN	K	210;210;129;129	ENSP00000426648:E210K;ENSP00000305810:E210K;ENSP00000425483:E129K;ENSP00000422376:E129K	ENSP00000305810:E210K	E	-	1	0	STX18	4487472	0.834000	0.29399	0.008000	0.14137	0.804000	0.45430	2.929000	0.48916	0.225000	0.20959	0.655000	0.94253	GAA		0.353	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			T	4436571	C	T	4436571	3	4	466	1	0	0	0	0	1	0	0	0	15346	835	29	2	399	2	STX18	4	4436571	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08		4436571	186717705	16	25348											
YTHDC1	91746	hgsc.bcm.edu	37	4	69185877	69185877	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:69185877T>C	ENST00000344157.4	-	12	1983	c.1648A>G	c.(1648-1650)Agg>Ggg	p.R550G	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R550G|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R532G	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	550	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TAGTCAATCCTTGGTTTCTTT	0.323																																																0													66	68	67					4																	69185877		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1648A>G	chr4.hg19:g.69185877T>C	ENSP00000339245:p.Arg550Gly		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	hg19	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013953	0.54468	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.27557	1.68;1.66	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.67145	0.989;0.996	D;P	0.75020	0.985;0.867	T	0.41805	-0.9488	10	0.72032	D	0.01	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	532;550	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	G	550;532	ENSP00000339245:R550G;ENSP00000347888:R532G	ENSP00000339245:R550G	R	-	1	2	YTHDC1	68868472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.886000	0.69743	2.371000	0.80710	0.533000	0.62120	AGG		0.323	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		C	69185877	T	C	69185877	3	2	466	1	0	0	0	0	1	0	0	0	17501	1608	56	3	559	3	YTHDC1	4	69185877	Missense_Mutation	SNP	T	TCGA-BQ-5890-01A-11D-1589-08	64749306	69185877	121968399	17	25349											
ELOVL6	79071	hgsc.bcm.edu	37	4	111119479	111119479	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:111119479C>A	ENST00000394607.3	-	2	176	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	ELOVL6_ENST00000302274.3_Missense_Mutation_p.V5L|ELOVL6_ENST00000506461.1_5'UTR			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	5					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		AAAGTCAACACTGACATGTTC	0.418																																																0													210	182	191					4																	111119479		2203	4300	6503	SO:0001583	missense	79071			AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.13G>T	chr4.hg19:g.111119479C>A	ENSP00000378105:p.Val5Leu		Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	hg19	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761175	0.69763	.	.	ENSG00000170522	ENST00000394607;ENST00000302274;ENST00000506625;ENST00000503885	T;T	0.21932	1.98;1.98	5.68	5.68	0.88126	.	0.204024	0.41712	D	0.000835	T	0.16981	0.0408	N	0.22421	0.69	0.48511	D	0.999667	B	0.02656	0.0	B	0.04013	0.001	T	0.06110	-1.0845	10	0.23302	T	0.38	-10.017	18.5758	0.91154	0.0:1.0:0.0:0.0	.	5	Q9H5J4	ELOV6_HUMAN	L	5	ENSP00000378105:V5L;ENSP00000304736:V5L	ENSP00000304736:V5L	V	-	1	0	ELOVL6	111338928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.795000	0.75140	2.683000	0.91414	0.655000	0.94253	GTG		0.418	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		A	111119479	C	A	111119479	3	1	466	1	0	0	0	0	1	0	0	0	5080	565	20	4	800	4	ELOVL6	4	111119479	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08	41933602	111119479	80034797	18	25350											
INPP4B	8821	hgsc.bcm.edu	37	4	143181690	143181690	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:143181690G>T	ENST00000513000.1	-	12	1076	c.643C>A	c.(643-645)Ccg>Acg	p.P215T	INPP4B_ENST00000508116.1_Missense_Mutation_p.P215T|INPP4B_ENST00000262992.4_Missense_Mutation_p.P215T|INPP4B_ENST00000308502.4_Missense_Mutation_p.P215T|INPP4B_ENST00000509777.1_Missense_Mutation_p.P215T	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	215					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.P215S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACACTTTCCGGGGCTGTACAT	0.279																																																2	Substitution - Missense(2)	lung(2)											53	53	53					4																	143181690		2203	4300	6503	SO:0001583	missense	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.643C>A	chr4.hg19:g.143181690G>T	ENSP00000425487:p.Pro215Thr		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	hg19	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349424	0.41599	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.52	3.78	0.43462	.	0.221687	0.37219	N	0.002193	T	0.18551	0.0445	N	0.14661	0.345	0.32366	N	0.556496	P;P	0.45531	0.86;0.767	P;B	0.47075	0.536;0.359	T	0.12604	-1.0541	10	0.09843	T	0.71	.	6.5521	0.22440	0.1539:0.0:0.6999:0.1463	.	86;215	B7Z6T2;O15327	.;INP4B_HUMAN	T	215;215;215;86;215;215;30;30;215;86	ENSP00000425487:P215T;ENSP00000262992:P215T;ENSP00000308441:P215T;ENSP00000423954:P215T;ENSP00000422793:P215T;ENSP00000426207:P30T;ENSP00000427250:P215T;ENSP00000421065:P86T	ENSP00000262992:P215T	P	-	1	0	INPP4B	143401140	0.996000	0.38824	0.954000	0.39281	0.988000	0.76386	1.385000	0.34408	0.674000	0.31244	0.655000	0.94253	CCG		0.279	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		T	143181690	G	T	143181690	3	4	466	1	0	0	0	0	1	0	0	0	7755	1232	43	4	2195	4	INPP4B	4	143181690	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	32062211	143181690	47972586	19	25351											
TIGD4	201798	hgsc.bcm.edu	37	4	153691640	153691640	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:153691640C>T	ENST00000304337.2	-	2	1337	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	173						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GGATGATAATCATTTAAATAA	0.353																																																0													35	38	37					4																	153691640		2172	4288	6460	SO:0001583	missense	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.517G>A	chr4.hg19:g.153691640C>T	ENSP00000355162:p.Asp173Asn		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	hg19	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341226	0.41498	.	.	ENSG00000169989	ENST00000304337	T	0.14893	2.47	5.7	5.7	0.88788	.	0.000000	0.46145	D	0.000301	T	0.16854	0.0405	L	0.35723	1.085	0.38647	D	0.951745	B	0.26744	0.158	B	0.26864	0.074	T	0.09100	-1.0690	10	0.17369	T	0.5	-28.5772	19.8349	0.96652	0.0:1.0:0.0:0.0	.	173	Q8IY51	TIGD4_HUMAN	N	173	ENSP00000355162:D173N	ENSP00000355162:D173N	D	-	1	0	TIGD4	153911090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.463000	0.66712	2.861000	0.98227	0.655000	0.94253	GAT		0.353	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		T	153691640	C	T	153691640	3	4	466	1	0	0	0	0	1	0	0	0	15903	826	29	2	1025	2	TIGD4	4	153691640	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08	10509950	153691640	37462636	20	25352											
SORBS2	8470	hgsc.bcm.edu	37	4	186545113	186545114	+	Missense_Mutation	DNP	GT	GT	AG			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:186545113_186545114GT>AG	ENST00000284776.7	-	13	1966_1967	c.1457_1458AC>CT	c.(1456-1458)cAC>cCT	p.H486P	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.H390P|SORBS2_ENST00000355634.5_Missense_Mutation_p.H586P|SORBS2_ENST00000431808.1_Missense_Mutation_p.H486P|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	486					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCAGGTCCTTGTGCTGCTGCTC	0.579																																					Esophageal Squamous(153;41 2433 9491 36028)											0																																										SO:0001583	missense	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1457_1458delinsAG	chr4.hg19:g.186545113_186545114delinsAG	ENSP00000284776:p.His486Pro		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent|Missense_Mutation	SNP	ENST00000284776.7	hg19	CCDS3845.1																																																																																				0.579	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		AG	186545114	GT	AG	186545113	3	1	466	1	0	0	0	0	1	0	0	0	14934	1368	48	2	1880	2	SORBS2	4	186545113	Missense_Mutation	DNP	GT	TCGA-BQ-5890-01A-11D-1589-08	32853473	186545113	4609163	21	25353											
HEATR7B2	133558	hgsc.bcm.edu	37	5	41048530	41048530	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr5:41048530C>T	ENST00000399564.4	-	16	2030	c.1580G>A	c.(1579-1581)gGg>gAg	p.G527E	MROH2B_ENST00000506092.2_Missense_Mutation_p.G82E	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	527																	TGCACCAGCCCCACGTAACTC	0.448																																																0													92	85	87					5																	41048530		1879	4102	5981	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1580G>A	chr5.hg19:g.41048530C>T	ENSP00000382476:p.Gly527Glu		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	hg19	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522411	0.44866	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.07908	3.15;3.15	4.87	4.87	0.63330	Armadillo-type fold (1);	0.218754	0.32593	N	0.005895	T	0.28167	0.0695	M	0.74647	2.275	0.30027	N	0.813842	D	0.89917	1.0	D	0.97110	1.0	T	0.03202	-1.1061	10	0.66056	D	0.02	.	13.7123	0.62675	0.0:1.0:0.0:0.0	.	527	Q7Z745	HTRB2_HUMAN	E	82;231;527	ENSP00000441504:G82E;ENSP00000382476:G527E	ENSP00000296803:G231E	G	-	2	0	HEATR7B2	41084287	0.914000	0.31030	0.274000	0.24659	0.058000	0.15608	3.303000	0.51858	2.683000	0.91414	0.655000	0.94253	GGG		0.448	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		T	41048530	C	T	41048530	3	4	466	1	0	0	0	0	1	0	0	0	7037	623	22	2	3285	2	HEATR7B2	5	41048530	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08		41048530	139866730	22	25354											
KLHL3	26249	hgsc.bcm.edu	37	5	136975648	136975648	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr5:136975648C>T	ENST00000309755.4	-	9	1365	c.922G>A	c.(922-924)Ggc>Agc	p.G308S	KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506491.1_Missense_Mutation_p.G226S|KLHL3_ENST00000508657.1_Missense_Mutation_p.G276S|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	308					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GGTGCCTGGCCGCCAACCACA	0.542																																																0													94	88	90					5																	136975648		2203	4300	6503	SO:0001583	missense	26249			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.922G>A	chr5.hg19:g.136975648C>T	ENSP00000312397:p.Gly308Ser		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	hg19	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522061	0.96416	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000505853	D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01	4.54	4.54	0.55810	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.989;0.999	D	0.97261	0.9904	10	0.87932	D	0	.	17.8383	0.88707	0.0:1.0:0.0:0.0	.	77;268;276;308	B7Z6E2;D6RH21;Q9UH77-2;Q9UH77	.;.;.;KLHL3_HUMAN	S	226;276;308;268	ENSP00000424828:G226S;ENSP00000422099:G276S;ENSP00000312397:G308S;ENSP00000426173:G268S	ENSP00000312397:G308S	G	-	1	0	KLHL3	137003547	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.416000	0.80143	2.535000	0.85469	0.655000	0.94253	GGC		0.542	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			T	136975648	C	T	136975648	3	4	466	1	0	0	0	0	1	0	0	0	8385	652	23	1	869	1	KLHL3	5	136975648	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08	95927118	136975648	43939612	23	25355											
FAM13B	51306	hgsc.bcm.edu	37	5	137289855	137289855	+	Splice_Site	SNP	C	C	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr5:137289855C>G	ENST00000033079.3	-	14	2103	c.1652G>C	c.(1651-1653)aGa>aCa	p.R551T	FAM13B_ENST00000425075.2_Splice_Site_p.R455T|FAM13B_ENST00000420893.2_Splice_Site_p.R551T	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	551					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AATCATATACCTAGTAAAAGA	0.388																																																0													67	65	66					5																	137289855		2203	4300	6503	SO:0001630	splice_region_variant	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1652+1G>C	chr5.hg19:g.137289855C>G			D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	hg19	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148430	0.78001	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.27104	2.85;1.69;2.85	5.49	5.49	0.81192	.	0.083341	0.64402	D	0.000002	T	0.51550	0.1681	M	0.73217	2.22	0.54753	D	0.999983	D;D;D	0.89917	1.0;0.981;1.0	D;D;D	0.74023	0.982;0.962;0.959	T	0.46978	-0.9152	9	.	.	.	-6.7113	18.3606	0.90372	0.0:1.0:0.0:0.0	.	455;551;551	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	T	551;455;551	ENSP00000033079:R551T;ENSP00000394669:R455T;ENSP00000388521:R551T	.	R	-	2	0	FAM13B	137317754	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	6.298000	0.72763	2.576000	0.86940	0.585000	0.79938	AGA		0.388	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		Missense_Mutation	G	137289855	C	G	137289855	5	3	466	1	0	0	0	0	0	0	1	0	5455	695	24	4	1135	4	FAM13B	5	137289855	Splice_Site	SNP	C	TCGA-BQ-5890-01A-11D-1589-08	314207	137289855	43625405	24	25356											
GABRA1	2554	hgsc.bcm.edu	37	5	161281260	161281260	+	Silent	SNP	G	G	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr5:161281260G>A	ENST00000428797.2	+	4	526	c.171G>A	c.(169-171)ctG>ctA	p.L57L	GABRA1_ENST00000444819.1_Silent_p.L57L|GABRA1_ENST00000437025.2_Silent_p.L57L|GABRA1_ENST00000420560.1_Silent_p.L57L|GABRA1_ENST00000023897.6_Silent_p.L57L|GABRA1_ENST00000393943.4_Silent_p.L57L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	57					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACAATCGCCTGAGACCAGGAT	0.383																																																0													92	95	94					5																	161281260		2203	4299	6502	SO:0001819	synonymous_variant	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.171G>A	chr5.hg19:g.161281260G>A			D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	hg19	CCDS4357.1																																																																																				0.383	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		A	161281260	G	A	161281260	2	1	466	1	0	0	0	0	0	0	0	1	6162	1277	45	2		2	GABRA1	5	161281260	Silent	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	23991405	161281260	19634000	25	25357											
TNXB	7148	hgsc.bcm.edu	37	6	32049190	32049190	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr6:32049190G>A	ENST00000375244.3	-	10	4198	c.3997C>T	c.(3997-3999)Cgt>Tgt	p.R1333C	RNA5SP206_ENST00000516703.1_RNA|TNXB_ENST00000375247.2_Missense_Mutation_p.R1333C			P22105	TENX_HUMAN	tenascin XB	1420	Fibronectin type-III 5. {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						TGCCTGCCACGAAGCCCGTAG	0.647																																																0													23	30	28					6																	32049190		2123	4220	6343	SO:0001583	missense	7148			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.3997C>T	chr6.hg19:g.32049190G>A	ENSP00000364393:p.Arg1333Cys		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	hg19		.	.	.	.	.	.	.	.	.	.	G	17.37	3.372666	0.61624	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57595	0.39;0.39	5.23	5.23	0.72850	.	0.950594	0.08613	N	0.919605	T	0.53286	0.1787	M	0.69823	2.125	0.09310	N	1	D	0.53312	0.959	P	0.54924	0.764	T	0.46638	-0.9177	10	0.49607	T	0.09	.	10.2526	0.43377	0.0912:0.0:0.9088:0.0	.	1333	P22105-3	.	C	1333	ENSP00000364393:R1333C;ENSP00000364396:R1333C	ENSP00000364393:R1333C	R	-	1	0	TNXB	32157168	0.365000	0.25006	0.021000	0.16686	0.986000	0.74619	1.552000	0.36244	2.610000	0.88304	0.407000	0.27541	CGT		0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		A	32049190	G	A	32049190	3	1	466	1	0	0	0	0	1	0	0	0	16351	1058	37	1	10856	1	TNXB	6	32049190	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08		32049190	139065877	26	25358											
SCUBE3	222663	hgsc.bcm.edu	37	6	35213120	35213120	+	Silent	SNP	G	G	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr6:35213120G>A	ENST00000274938.7	+	19	2517	c.2517G>A	c.(2515-2517)aaG>aaA	p.K839K	SCUBE3_ENST00000394681.1_Silent_p.K855K	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCCCACCCAAGCGCAAGATCC	0.562																																																0													111	102	105					6																	35213120		2203	4300	6503	SO:0001819	synonymous_variant	222663			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2517G>A	chr6.hg19:g.35213120G>A				Silent	SNP	ENST00000274938.7	hg19	CCDS4800.1																																																																																				0.562	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		A	35213120	G	A	35213120	2	1	466	1	0	0	0	0	0	0	0	1	13952	962	34	2		2	SCUBE3	6	35213120	Silent	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	3163930	35213120	135901947	27	25359											
PEX6	5190	hgsc.bcm.edu	37	6	42932546	42932546	+	Missense_Mutation	SNP	C	C	T	rs61753232		TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr6:42932546C>T	ENST00000304611.8	-	16	2857	c.2788G>A	c.(2788-2790)Gtt>Att	p.V930I	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	930					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AGGTCATGAACCCTGCGTTTG	0.587																																																0													112	98	103					6																	42932546		2203	4300	6503	SO:0001583	missense	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2788G>A	chr6.hg19:g.42932546C>T	ENSP00000303511:p.Val930Ile		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	hg19	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765700	0.31228	.	.	ENSG00000124587	ENST00000304611	D	0.94723	-3.5	5.78	4.92	0.64577	.	0.159370	0.56097	D	0.000024	T	0.79616	0.4476	N	0.13272	0.32	0.80722	D	1	B	0.25667	0.131	B	0.29942	0.109	T	0.76016	-0.3113	10	0.02654	T	1	-14.3262	14.7217	0.69311	0.0:0.9297:0.0:0.0703	.	930	Q13608	PEX6_HUMAN	I	930	ENSP00000303511:V930I	ENSP00000303511:V930I	V	-	1	0	PEX6	43040524	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.850000	0.48294	1.453000	0.47775	-0.143000	0.13931	GTT		0.587	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		T	42932546	C	T	42932546	3	4	466	1	0	0	0	0	1	0	0	0	11752	507	18	2	162	2	PEX6	6	42932546	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08	7719426	42932546	128182521	28	25360											
PKHD1	5314	hgsc.bcm.edu	37	6	51882414	51882414	+	Silent	SNP	G	G	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr6:51882414G>A	ENST00000371117.3	-	34	5669	c.5394C>T	c.(5392-5394)ttC>ttT	p.F1798F	PKHD1_ENST00000340994.4_Silent_p.F1798F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1798					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCACACAGGAAGGCCAAGG	0.522																																																0													101	89	93					6																	51882414		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5394C>T	chr6.hg19:g.51882414G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	hg19	CCDS4935.1																																																																																				0.522	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51882414	G	A	51882414	2	1	466	1	0	0	0	0	0	0	0	1	11973	1165	41	2		2	PKHD1	6	51882414	Silent	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	8949868	51882414	119232653	29	25361											
ENPP1	5167	hgsc.bcm.edu	37	6	132206107	132206107	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr6:132206107A>C	ENST00000360971.2	+	23	2368	c.2348A>C	c.(2347-2349)aAg>aCg	p.K783T		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	783	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CTACTGCGAAAGTATGCTGAA	0.408																																					Colon(104;336 1535 5856 11019 33782)											0													228	208	215					6																	132206107		2203	4300	6503	SO:0001583	missense	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2348A>C	chr6.hg19:g.132206107A>C	ENSP00000354238:p.Lys783Thr		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	hg19	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	A	12.63	1.996697	0.35226	.	.	ENSG00000197594	ENST00000360971	T	0.69561	-0.41	5.91	-0.54	0.11861	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.445357	0.26013	N	0.026870	T	0.46405	0.1391	L	0.61036	1.89	0.22940	N	0.998539	B	0.24920	0.114	B	0.37833	0.259	T	0.54180	-0.8332	10	0.45353	T	0.12	-2.7243	8.0938	0.30816	0.6341:0.1292:0.2367:0.0	.	783	P22413	ENPP1_HUMAN	T	783	ENSP00000354238:K783T	ENSP00000354238:K783T	K	+	2	0	ENPP1	132247800	1.000000	0.71417	0.005000	0.12908	0.829000	0.46940	1.859000	0.39418	-0.182000	0.10602	-0.242000	0.12053	AAG		0.408	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			C	132206107	A	C	132206107	3	2	466	1	0	0	0	0	1	0	0	0	5131	72	3	5	2438	5	ENPP1	6	132206107	Missense_Mutation	SNP	A	TCGA-BQ-5890-01A-11D-1589-08	80323693	132206107	38908960	30	25362											
TNFAIP3	7128	hgsc.bcm.edu	37	6	138200458	138200458	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr6:138200458C>A	ENST00000237289.4	+	7	1942	c.1876C>A	c.(1876-1878)Ctg>Atg	p.L626M		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	626	Interaction with TNIP1. {ECO:0000250}.|Required for proteosomal degradation of UBE2N and UBE2D3, TRAF6 deubiquitination, and TAX1BP1 interaction with UBE2N. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.L626fs*45(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTTGCACACTGTGTTTCAT	0.512			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	26	Whole gene deletion(25)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(26)											71	77	75					6																	138200458		2203	4300	6503	SO:0001583	missense	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1876C>A	chr6.hg19:g.138200458C>A	ENSP00000237289:p.Leu626Met		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	hg19	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552844	0.65425	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.43688	0.94	5.82	4.96	0.65561	Zinc finger, A20-type (3);	0.066315	0.64402	D	0.000008	T	0.49406	0.1555	M	0.67953	2.075	0.45837	D	0.9987	D	0.76494	0.999	D	0.75484	0.986	T	0.51934	-0.8642	10	0.41790	T	0.15	-20.5642	11.1227	0.48300	0.0:0.8531:0.0:0.1469	.	626	P21580	TNAP3_HUMAN	M	626	ENSP00000237289:L626M	ENSP00000237289:L626M	L	+	1	2	TNFAIP3	138242151	0.881000	0.30235	0.909000	0.35828	0.972000	0.66771	1.756000	0.38390	1.472000	0.48140	0.655000	0.94253	CTG		0.512	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			A	138200458	C	A	138200458	3	1	466	1	0	0	0	0	1	0	0	0	16279	564	20	4	1898	4	TNFAIP3	6	138200458	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08	5994351	138200458	32914609	31	25363											
HOXA2	3199	hgsc.bcm.edu	37	7	27140389	27140390	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr7:27140389_27140390insA	ENST00000222718.5	-	2	1396_1397	c.1086_1087insT	c.(1084-1089)tttacafs	p.T363fs	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000593300.1_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	363					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AGTGTGTCTGTAAAAAAGTCTA	0.436																																																0																																										SO:0001589	frameshift_variant	3199				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"Homeoboxes / ANTP class : HOXL subclass"	5103	protein-coding gene	gene with protein product		604685	"homeo box A2"	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.1087dupT	chr7.hg19:g.27140395_27140395dupA	ENSP00000222718:p.Thr363fs		A1L4K3|B2RMW3	Frame_Shift_Ins	INS	ENST00000222718.5	hg19	CCDS5403.1																																																																																				0.436	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			A	27140390	-	A	27140389	7	5	466	1	0	1	1	0	0	0	0	0	7294	1638	57	0	47	0	HOXA2	7	27140389	Frame_Shift_Ins	INS	-	TCGA-BQ-5890-01A-11D-1589-08		27140389	131998274	32	25364											
LRWD1	222229	hgsc.bcm.edu	37	7	102110042	102110043	+	Missense_Mutation	DNP	TC	TC	GA			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr7:102110042_102110043TC>GA	ENST00000292616.5	+	10	1402_1403	c.1250_1251TC>GA	c.(1249-1251)aTC>aGA	p.I417R	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	417					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GACAAGCGGATCATCCTCTGGG	0.644																																																0																																										SO:0001583	missense	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	Exception_encountered	chr7.hg19:g.102110042_102110043delinsGA	ENSP00000292616:p.Ile417Arg		A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation|Silent	SNP	ENST00000292616.5	hg19	CCDS34715.1																																																																																				0.644	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		GA	102110043	TC	GA	102110042	3	3	466	1	0	0	0	0	1	0	0	0	9049	1435	50	5	1288	5	LRWD1	7	102110042	Missense_Mutation	DNP	TC	TCGA-BQ-5890-01A-11D-1589-08	74969653	102110042	57028621	33	25365											
CSMD1	64478	hgsc.bcm.edu	37	8	3216707	3216707	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr8:3216707G>A	ENST00000520002.1	-	22	3829	c.3274C>T	c.(3274-3276)Cgt>Tgt	p.R1092C	CSMD1_ENST00000602723.1_Missense_Mutation_p.R1092C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1092C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1092C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1091C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1092	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCACACACGGCGGCCCCCA	0.557																																																0													70	74	73					8																	3216707		2203	4300	6503	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3274C>T	chr8.hg19:g.3216707G>A	ENSP00000430733:p.Arg1092Cys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.9|20.9	4.074273|4.074273	0.76415|0.76415	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.64991	.|-0.13;-0.13;-0.13;-0.13;-0.13	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.83096|0.83096	0.5180|0.5180	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.999;0.998	D|D	0.86677|0.86677	0.1914|0.1914	5|10	.|0.66056	.|D	.|0.02	.|.	13.9698|13.9698	0.64233|0.64233	0.0:0.0:0.8484:0.1516|0.0:0.0:0.8484:0.1516	.|.	.|1092;1092;1092	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	L|C	571|1092;1092;954;1091;1091;1091	.|ENSP00000383047:R1092C;ENSP00000430733:R1092C;ENSP00000441462:R1091C;ENSP00000446243:R1091C;ENSP00000441675:R1091C	.|ENSP00000320445:R954C	P|R	-|-	2|1	0|0	CSMD1|CSMD1	3204114|3204114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.283000|4.283000	0.58977|0.58977	2.489000|2.489000	0.83994|0.83994	0.550000|0.550000	0.68814|0.68814	CCG|CGT		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3216707	G	A	3216707	3	1	466	1	0	0	0	0	1	0	0	0	3946	1116	39	1	7623	1	CSMD1	8	3216707	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08		3216707	143147315	34	25366											
ADAM7	8756	hgsc.bcm.edu	37	8	24357759	24357760	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr8:24357759_24357760AC>CA	ENST00000175238.6	+	18	2075_2076	c.1992_1993AC>CA	c.(1990-1995)ttACat>ttCAat	p.664_665LH>FN	ADAM7_ENST00000380789.1_Missense_Mutation_p.664_665LH>FN|ADAM7_ENST00000520720.1_Missense_Mutation_p.436_437LH>FN|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	664	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGAAACCTTACATGTTACCAG	0.411																																																0																																										SO:0001583	missense	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	Exception_encountered	chr8.hg19:g.24357759_24357760delinsCA	ENSP00000175238:p.L664_H665delinsFN		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	hg19	CCDS6045.1																																																																																				0.411	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		CA	24357760	AC	CA	24357759	3	2	466	1	0	0	0	0	1	0	0	0	251	388	14	5	2062	5	ADAM7	8	24357759	Missense_Mutation	DNP	AC	TCGA-BQ-5890-01A-11D-1589-08	21141052	24357759	122006263	35	25367											
COL14A1	7373	hgsc.bcm.edu	37	8	121219275	121219276	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr8:121219275_121219276insA	ENST00000297848.3	+	10	1403_1404	c.1133_1134insA	c.(1132-1137)ggaaatfs	p.N379fs	COL14A1_ENST00000247781.3_Frame_Shift_Ins_p.N284fs|COL14A1_ENST00000537875.1_Frame_Shift_Ins_p.N379fs|COL14A1_ENST00000309791.4_Frame_Shift_Ins_p.N379fs|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CATGCCCCAGGAAATGTGGAAA	0.436																																																0																																										SO:0001589	frameshift_variant	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1136dupA	chr8.hg19:g.121219278_121219278dupA	ENSP00000297848:p.Asn379fs			Frame_Shift_Ins	INS	ENST00000297848.3	hg19	CCDS34938.1																																																																																				0.436	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121219276	-	A	121219275	7	5	466	1	0	1	1	0	0	0	0	0	3673	1174	41	0	1167	0	COL14A1	8	121219275	Frame_Shift_Ins	INS	-	TCGA-BQ-5890-01A-11D-1589-08	96861516	121219275	25144747	36	25368											
FLJ46321	389763	hgsc.bcm.edu	37	9	84608073	84608073	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr9:84608073T>G	ENST00000344803.2	+	4	2735	c.2688T>G	c.(2686-2688)agT>agG	p.S896R		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	896					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTTCCTTAGTTCCAACAAAC	0.428																																																0													74	65	68					9																	84608073		1843	4100	5943	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2688T>G	chr9.hg19:g.84608073T>G	ENSP00000341988:p.Ser896Arg			Missense_Mutation	SNP	ENST00000344803.2	hg19	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	6.930	0.541227	0.13250	.	.	ENSG00000214929	ENST00000344803	T	0.44482	0.92	3.45	-0.949	0.10376	.	2.375910	0.01543	N	0.019319	T	0.28499	0.0705	L	0.34521	1.04	0.09310	N	1	B	0.29085	0.232	B	0.30251	0.113	T	0.03910	-1.0993	10	0.21540	T	0.41	1.1122	0.6148	0.00767	0.1883:0.1384:0.2367:0.4366	.	896	Q6ZQQ2	F75D1_HUMAN	R	896	ENSP00000341988:S896R	ENSP00000341988:S896R	S	+	3	2	FAM75D1	83797893	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.406000	0.07187	-0.259000	0.09432	-0.417000	0.06048	AGT		0.428	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		G	84608073	T	G	84608073	3	3	466	1	0	0	0	0	1	0	0	0	5934	1722	60	5	2702	5	FLJ46321	9	84608073	Missense_Mutation	SNP	T	TCGA-BQ-5890-01A-11D-1589-08		84608073	56605358	37	25369											
TXN	7295	hgsc.bcm.edu	37	9	113013695	113013695	+	Silent	SNP	T	T	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr9:113013695T>C	ENST00000374517.5	-	2	276	c.72A>G	c.(70-72)gtA>gtG	p.V24V	TXN_ENST00000374515.5_Silent_p.V24V	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	24	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|glycerol ether metabolic process (GO:0006662)|innate immune response (GO:0045087)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oxidation-reduction process (GO:0055114)|positive regulation of DNA binding (GO:0043388)|regulation of protein import into nucleus, translocation (GO:0033158)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	peptide disulfide oxidoreductase activity (GO:0015037)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		AGAAGTCAACTACTACAAGTT	0.363																																																0													60	60	60					9																	113013695		2203	4300	6503	SO:0001819	synonymous_variant	7295			X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810			12435	protein-coding gene	gene with protein product		187700					Standard	NM_003329		Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.72A>G	chr9.hg19:g.113013695T>C			B1ALW1|O60744|Q53X69|Q96KI3|Q9UDG5	Silent	SNP	ENST00000374517.5	hg19	CCDS35103.1																																																																																				0.363	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053614.1			C	113013695	T	C	113013695	2	2	466	1	0	0	0	0	0	0	0	1	16795	1509	53	3		3	TXN	9	113013695	Silent	SNP	T	TCGA-BQ-5890-01A-11D-1589-08	28405622	113013695	28199736	38	25370											
FAM125B	89853	hgsc.bcm.edu	37	9	129143362	129143362	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr9:129143362G>C	ENST00000361171.3	+	3	305	c.224G>C	c.(223-225)gGt>gCt	p.G75A	MVB12B_ENST00000436593.3_Missense_Mutation_p.G60A|MVB12B_ENST00000545391.1_Missense_Mutation_p.G75A|MVB12B_ENST00000535766.1_Missense_Mutation_p.G68A	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	75	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										ACAGCAGATGGTGTGGATGCT	0.478																																																0													131	113	119					9																	129143362		2203	4300	6503	SO:0001583	missense	89853			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.224G>C	chr9.hg19:g.129143362G>C	ENSP00000354772:p.Gly75Ala		Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	hg19	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625105	0.66901	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.15	5.15	0.70609	MABP domain (1);	0.101991	0.64402	D	0.000002	T	0.71937	0.3399	M	0.81497	2.545	0.58432	D	0.999999	D;P;P	0.89917	1.0;0.841;0.675	D;P;B	0.91635	0.999;0.46;0.337	T	0.76542	-0.2921	10	0.87932	D	0	-9.369	18.6946	0.91596	0.0:0.0:1.0:0.0	.	68;60;75	B7Z4X0;B7Z1P9;Q9H7P6	.;.;F125B_HUMAN	A	75;75;60;60;68	ENSP00000354772:G75A;ENSP00000441988:G75A;ENSP00000384751:G60A;ENSP00000401379:G60A;ENSP00000442846:G68A	ENSP00000354772:G75A	G	+	2	0	FAM125B	128183183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.359000	0.97115	2.418000	0.82041	0.650000	0.86243	GGT		0.478	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		C	129143362	G	C	129143362	3	2	466	1	0	0	0	0	1	0	0	0	5430	1261	44	4	234	4	FAM125B	9	129143362	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	16129667	129143362	12070069	39	25371											
CYP2C18	1562	hgsc.bcm.edu	37	10	96443672	96443672	+	Silent	SNP	C	C	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr10:96443672C>A	ENST00000285979.6	+	1	295	c.96C>A	c.(94-96)ggC>ggA	p.G32G	CYP2C18_ENST00000339022.5_Silent_p.G32G	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	32					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TCCCGTCTGGCCCCACTCCTC	0.483																																																0													99	87	91					10																	96443672		2203	4300	6503	SO:0001819	synonymous_variant	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.96C>A	chr10.hg19:g.96443672C>A			B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	ENST00000285979.6	hg19	CCDS7435.1																																																																																				0.483	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		A	96443672	C	A	96443672	2	1	466	1	0	0	0	0	0	0	0	1	4167	726	26	4		4	CYP2C18	10	96443672	Silent	SNP	C	TCGA-BQ-5890-01A-11D-1589-08		96443672	39091075	40	25372											
DMBT1	1755	hgsc.bcm.edu	37	10	124351862	124351862	+	Silent	SNP	C	C	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr10:124351862C>A	ENST00000338354.3	+	20	2357	c.2251C>A	c.(2251-2253)Cga>Aga	p.R751R	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Silent_p.R741R|DMBT1_ENST00000368909.3_Silent_p.R751R|DMBT1_ENST00000368955.3_Silent_p.R741R|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	751	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.R751R(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTCCTATACCGAGGCTCCTG	0.582																																					Ovarian(182;93 2026 18125 22222 38972)											3	Substitution - coding silent(3)	lung(3)											322	237	265					10																	124351862		2025	4157	6182	SO:0001819	synonymous_variant	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2251C>A	chr10.hg19:g.124351862C>A			A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	hg19																																																																																					0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		A	124351862	C	A	124351862	2	1	466	1	0	0	0	0	0	0	0	1	4579	644	23	4		4	DMBT1	10	124351862	Silent	SNP	C	TCGA-BQ-5890-01A-11D-1589-08	27908190	124351862	11182885	41	25373											
CD81	975	hgsc.bcm.edu	37	11	2417109	2417109	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr11:2417109G>T	ENST00000263645.5	+	6	726	c.470G>T	c.(469-471)tGt>tTt	p.C157F	CD81_ENST00000481687.1_Missense_Mutation_p.C163F|CD81_ENST00000381036.3_Missense_Mutation_p.C195F|CD81_ENST00000526072.1_Missense_Mutation_p.C86F|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_Missense_Mutation_p.C86F	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	157					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTTGACTGCTGTGGCTCCAGC	0.602																																																0													94	73	80					11																	2417109		2202	4299	6501	SO:0001583	missense	975				CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"CD molecules", "Tetraspanins"	1701	protein-coding gene	gene with protein product		186845	"CD81 antigen (target of antiproliferative antibody 1)"	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.470G>T	chr11.hg19:g.2417109G>T	ENSP00000263645:p.Cys157Phe		P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	hg19	CCDS7734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.61|11.61	1.691270|1.691270	0.30052|0.30052	.|.	.|.	ENSG00000110651|ENSG00000110651	ENST00000475945;ENST00000263645;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000492252;ENST00000526072;ENST00000481687|ENST00000464784	D;D;D;D;D;D;D;D|.	0.99881|.	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47|.	3.56|3.56	3.56|3.56	0.40772|0.40772	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);|.	0.106944|.	0.64402|.	D|.	0.000003|.	D|D	0.85999|0.85999	0.5828|0.5828	H|H	0.96662|0.96662	3.86|3.86	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.89124|0.89124	0.3505|0.3505	10|5	0.87932|.	D|.	0|.	.|.	10.8427|10.8427	0.46726|0.46726	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	195;157|.	A6NMH8;P60033|.	.;CD81_HUMAN|.	F|L	86;157;86;146;195;150;86;163|142	ENSP00000433178:C86F;ENSP00000263645:C157F;ENSP00000437242:C86F;ENSP00000433767:C146F;ENSP00000370424:C195F;ENSP00000432249:C150F;ENSP00000431780:C86F;ENSP00000432033:C163F|.	ENSP00000263645:C157F|.	C|V	+|+	2|1	0|0	CD81|CD81	2373685|2373685	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.035000|0.035000	0.12851|0.12851	3.056000|3.056000	0.49923|0.49923	2.011000|2.011000	0.59026|0.59026	0.491000|0.491000	0.48974|0.48974	TGT|GTG		0.602	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		T	2417109	G	T	2417109	3	4	466	1	0	0	0	0	1	0	0	0	3041	1377	48	4	492	4	CD81	11	2417109	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08		2417109	132589407	42	25374											
NELL1	4745	hgsc.bcm.edu	37	11	21581738	21581738	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr11:21581738T>G	ENST00000357134.5	+	17	1942	c.1790T>G	c.(1789-1791)aTt>aGt	p.I597S	NELL1_ENST00000532434.1_Missense_Mutation_p.I550S|NELL1_ENST00000298925.5_Missense_Mutation_p.I625S|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000325319.5_Missense_Mutation_p.I540S	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	597	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATTGCAGACATTGATGAATGT	0.478																																																0													132	122	125					11																	21581738		2203	4300	6503	SO:0001583	missense	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1790T>G	chr11.hg19:g.21581738T>G	ENSP00000349654:p.Ile597Ser		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	hg19	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.603633	0.66445	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	5.9	5.9	0.94986	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.067178	0.64402	D	0.000016	D	0.96898	0.8987	M	0.88570	2.965	0.51767	D	0.999934	D;D;D;D	0.64830	0.993;0.994;0.986;0.994	P;D;P;D	0.63192	0.857;0.912;0.885;0.912	D	0.97543	1.0087	10	0.87932	D	0	-6.8617	16.3275	0.82990	0.0:0.0:0.0:1.0	.	540;625;550;597	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	S	625;597;540;550	ENSP00000298925:I625S;ENSP00000349654:I597S;ENSP00000317837:I540S;ENSP00000437170:I550S	ENSP00000298925:I625S	I	+	2	0	NELL1	21538314	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	8.040000	0.89188	2.266000	0.75297	0.528000	0.53228	ATT		0.478	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		G	21581738	T	G	21581738	3	3	466	1	0	0	0	0	1	0	0	0	10335	1493	52	5	1856	5	NELL1	11	21581738	Missense_Mutation	SNP	T	TCGA-BQ-5890-01A-11D-1589-08	19164629	21581738	113424778	43	25375											
SLC5A12	159963	hgsc.bcm.edu	37	11	26742996	26742996	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr11:26742996A>T	ENST00000396005.3	-	1	575	c.266T>A	c.(265-267)cTa>cAa	p.L89Q	SLC5A12_ENST00000280467.6_Missense_Mutation_p.L89Q	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	89					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GATGACAAATAGGTAAGCAAT	0.468																																																0													94	95	95					11																	26742996		2203	4299	6502	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.266T>A	chr11.hg19:g.26742996A>T	ENSP00000379326:p.Leu89Gln		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	hg19	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	A	9.586	1.124947	0.20959	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.91686	-2.89;-2.89	5.83	1.3	0.21679	.	1.064190	0.07282	N	0.870876	D	0.91740	0.7388	L	0.58583	1.82	0.09310	N	1	B;P	0.37176	0.204;0.586	P;B	0.45856	0.495;0.436	T	0.81684	-0.0821	10	0.59425	D	0.04	.	6.9268	0.24419	0.1679:0.2534:0.5788:0.0	.	89;89	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	Q	89	ENSP00000379326:L89Q;ENSP00000280467:L89Q	ENSP00000280467:L89Q	L	-	2	0	SLC5A12	26699572	0.018000	0.18449	0.000000	0.03702	0.042000	0.13812	1.941000	0.40233	-0.023000	0.13963	-0.472000	0.04984	CTA		0.468	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		T	26742996	A	T	26742996	3	4	466	1	0	0	0	0	1	0	0	0	14670	420	15	5	1650	5	SLC5A12	11	26742996	Missense_Mutation	SNP	A	TCGA-BQ-5890-01A-11D-1589-08	5161258	26742996	108263520	44	25376											
FLRT1	28992	hgsc.bcm.edu	37	11	63884401	63884401	+	Intron	SNP	T	T	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr11:63884401T>A	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.L221H|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TTCAAGGGCCTCAACAGCCTG	0.657																																																0													37	33	34					11																	63884401		2201	4297	6498	SO:0001627	intron_variant	23769			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34309A>T	chr11.hg19:g.63884401T>A			Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	hg19	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012781	0.75161	.	.	ENSG00000126500	ENST00000246841	T	0.71222	-0.55	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000007	D	0.88966	0.6581	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92298	0.5847	10	0.87932	D	0	-26.892	14.697	0.69129	0.0:0.0:0.0:1.0	.	193	Q9NZU1	FLRT1_HUMAN	H	221	ENSP00000246841:L221H	ENSP00000246841:L221H	L	+	2	0	FLRT1	63640977	0.997000	0.39634	0.940000	0.37924	0.996000	0.88848	5.163000	0.64948	2.114000	0.64651	0.454000	0.30748	CTC		0.657	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		A	63884401	T	A	63884401	1	1	466	0	1	0	0	0	0	0	0	0	5940	1551	54	5		5	FLRT1	11	63884401	Intron	SNP	T	TCGA-BQ-5890-01A-11D-1589-08	37141405	63884401	71122115	45	25377											
PITPNM1	9600	hgsc.bcm.edu	37	11	67265787	67265787	+	Silent	SNP	G	G	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr11:67265787G>A	ENST00000534749.1	-	10	1679	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	PITPNM1_ENST00000436757.2_Silent_p.S497S|PITPNM1_ENST00000356404.3_Silent_p.S497S			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	497					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGCTGTAAGGGCTCAGGCTGT	0.657																																					GBM(28;144 709 4607 5525)											0													56	55	55					11																	67265787		2196	4291	6487	SO:0001819	synonymous_variant	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1491C>T	chr11.hg19:g.67265787G>A			A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	hg19	CCDS31620.1																																																																																				0.657	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		A	67265787	G	A	67265787	2	1	466	1	0	0	0	0	0	0	0	1	11952	1194	42	2		2	PITPNM1	11	67265787	Silent	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	3381386	67265787	67740729	46	25378											
WNK1	65125	hgsc.bcm.edu	37	12	977170	977170	+	Intron	SNP	C	C	T	rs200794710		TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr12:977170C>T	ENST00000315939.6	+	9	2782				WNK1_ENST00000574564.1_Missense_Mutation_p.R59C|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.R760C|WNK1_ENST00000530271.2_Missense_Mutation_p.R845C|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCCCAGCGGCGTAAGAGCAC	0.512																																					Colon(19;451 567 6672 12618 28860)											0								C	CYS/ARG,CYS/ARG,,	0,3850		0,0,1925	104	105	105		2278,2533,,	5.7	1	12		105	1,8271		0,1,4135	yes	missense,missense,intron,intron	WNK1	NM_001184985.1,NM_213655.4,NM_014823.2,NM_018979.3	180,180,,	0,1,6060	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging,,	760/2643,845/2635,,	977170	1,12121	1925	4136	6061	SO:0001627	intron_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3261C>T	chr12.hg19:g.977170C>T			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	hg19	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984466	0.53934	0.0	1.21E-4	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.15603	2.41;2.41	5.67	5.67	0.87782	.	.	.	.	.	T	0.46795	0.1411	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.39522	-0.9610	8	0.56958	D	0.05	.	19.7725	0.96373	0.0:1.0:0.0:0.0	.	845	F5H2M7	.	C	760;845	ENSP00000444465:R760C;ENSP00000433548:R845C	ENSP00000433548:R845C	R	+	1	0	WNK1	847431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.673000	0.90976	0.467000	0.42956	CGT		0.512	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		T	977170	C	T	977170	1	4	466	0	1	0	0	0	0	0	0	0	17382	768	27	1		1	WNK1	12	977170	Intron	SNP	C	TCGA-BQ-5890-01A-11D-1589-08		977170	132874725	47	25379											
KCNC2	3747	hgsc.bcm.edu	37	12	75441966	75441966	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr12:75441966A>C	ENST00000549446.1	-	4	2427	c.1747T>G	c.(1747-1749)Tac>Gac	p.Y583D	KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548513.1_Missense_Mutation_p.Y583D|KCNC2_ENST00000550433.1_Missense_Mutation_p.Y583D|KCNC2_ENST00000393288.2_Missense_Mutation_p.Y583D|KCNC2_ENST00000341669.3_Missense_Mutation_p.Y583D|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000298972.1_Missense_Mutation_p.Y583D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	583					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GCACACGTGTAATCACCTGTC	0.463																																																0													322	257	279					12																	75441966		2203	4300	6503	SO:0001583	missense	3747			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1747T>G	chr12.hg19:g.75441966A>C	ENSP00000449253:p.Tyr583Asp		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	hg19	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589934	0.86851	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000393288	D;D;D;D;D;D	0.97959	-4.52;-4.57;-4.63;-4.52;-4.57;-4.61	5.55	5.55	0.83447	.	1.098430	0.06893	N	0.804679	D	0.98052	0.9358	L	0.55990	1.75	0.58432	D	0.999996	D;P;D	0.57899	0.981;0.895;0.964	P;B;P	0.55871	0.786;0.389;0.745	D	0.93970	0.7248	10	0.72032	D	0.01	.	15.683	0.77388	1.0:0.0:0.0:0.0	.	583;583;583	Q96PR1-2;Q96PR1;Q96PR1-3	.;KCNC2_HUMAN;.	D	583	ENSP00000448301:Y583D;ENSP00000449941:Y583D;ENSP00000449253:Y583D;ENSP00000340121:Y583D;ENSP00000298972:Y583D;ENSP00000376966:Y583D	ENSP00000298972:Y583D	Y	-	1	0	KCNC2	73728233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.855000	0.75445	2.104000	0.64026	0.477000	0.44152	TAC		0.463	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		C	75441966	A	C	75441966	3	2	466	1	0	0	0	0	1	0	0	0	8017	362	13	5	243	5	KCNC2	12	75441966	Missense_Mutation	SNP	A	TCGA-BQ-5890-01A-11D-1589-08	74464796	75441966	58409929	48	25380											
NUAK1	9891	hgsc.bcm.edu	37	12	106460987	106460987	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr12:106460987G>T	ENST00000261402.2	-	7	2958	c.1579C>A	c.(1579-1581)Cac>Aac	p.H527N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	527					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TTGCTGCTGTGTTTCAAGATG	0.627																																																0													68	75	72					12																	106460987		2203	4300	6503	SO:0001583	missense	9891			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1579C>A	chr12.hg19:g.106460987G>T	ENSP00000261402:p.His527Asn		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	hg19	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692745	0.68271	.	.	ENSG00000074590	ENST00000261402	T	0.73258	-0.73	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000008	T	0.77239	0.4101	M	0.61703	1.905	0.54753	D	0.999988	P	0.47910	0.902	P	0.50082	0.63	T	0.78411	-0.2214	10	0.51188	T	0.08	.	19.0535	0.93054	0.0:0.0:1.0:0.0	.	527	O60285	NUAK1_HUMAN	N	527	ENSP00000261402:H527N	ENSP00000261402:H527N	H	-	1	0	NUAK1	104985117	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	9.476000	0.97823	2.493000	0.84123	0.462000	0.41574	CAC		0.627	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		T	106460987	G	T	106460987	3	4	466	1	0	0	0	0	1	0	0	0	10714	1377	48	4	410	4	NUAK1	12	106460987	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	31019021	106460987	27390908	49	25381											
RNF17	56163	hgsc.bcm.edu	37	13	25352542	25352542	+	Silent	SNP	T	T	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr13:25352542T>C	ENST00000255324.5	+	4	479	c.427T>C	c.(427-429)Ttg>Ctg	p.L143L	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.L143L|RNF17_ENST00000255325.6_Silent_p.L143L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	143					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGCTGTAATGTTGGTATGAAA	0.383																																																0													158	141	147					13																	25352542		2203	4300	6503	SO:0001819	synonymous_variant	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.427T>C	chr13.hg19:g.25352542T>C			Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	hg19	CCDS9308.2																																																																																				0.383	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		C	25352542	T	C	25352542	2	2	466	1	0	0	0	0	0	0	0	1	13467	1722	60	3		3	RNF17	13	25352542	Silent	SNP	T	TCGA-BQ-5890-01A-11D-1589-08		25352542	89817336	50	25382											
CSPG4	1464	hgsc.bcm.edu	37	15	75981607	75981607	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr15:75981607C>T	ENST00000308508.5	-	3	1891	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	600	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2. {ECO:0000250}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CACGGGGAGGCCAGAGGAGGT	0.672																																																0													19	23	21					15																	75981607		2192	4287	6479	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1799G>A	chr15.hg19:g.75981607C>T	ENSP00000312506:p.Gly600Asp		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	hg19	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	2.636	-0.285218	0.05605	.	.	ENSG00000173546	ENST00000308508	T	0.19938	2.11	5.35	4.4	0.53042	.	0.186703	0.37955	N	0.001879	T	0.15522	0.0374	L	0.53249	1.67	0.09310	N	1	B	0.33583	0.418	B	0.24541	0.054	T	0.18272	-1.0342	10	0.24483	T	0.36	.	6.6414	0.22911	0.1799:0.7302:0.0:0.0899	.	600	Q6UVK1	CSPG4_HUMAN	D	600	ENSP00000312506:G600D	ENSP00000312506:G600D	G	-	2	0	CSPG4	73768662	.	.	0.001000	0.08648	0.417000	0.31264	.	.	1.194000	0.43101	0.555000	0.69702	GGC		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75981607	C	T	75981607	3	4	466	1	0	0	0	0	1	0	0	0	3962	739	26	2	5201	2	CSPG4	15	75981607	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08		75981607	26549785	51	25383											
MCTP2	55784	hgsc.bcm.edu	37	15	94884070	94884070	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr15:94884070G>T	ENST00000357742.4	+	6	886	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	MCTP2_ENST00000543482.1_Missense_Mutation_p.D296Y|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.D296Y	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	296					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAAACTGGAAGATCCAAACAG	0.388																																																0													84	82	83					15																	94884070		2197	4298	6495	SO:0001583	missense	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.886G>T	chr15.hg19:g.94884070G>T	ENSP00000350377:p.Asp296Tyr		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	hg19	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148823	0.78001	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.10573	2.86;2.86;2.86	5.77	4.86	0.63082	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.99;0.994;0.997;0.999	T	0.02053	-1.1222	10	0.87932	D	0	.	14.4552	0.67411	0.0712:0.0:0.9288:0.0	.	296;296;296;296;296	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	Y	296	ENSP00000438521:D296Y;ENSP00000395109:D296Y;ENSP00000350377:D296Y	ENSP00000350377:D296Y	D	+	1	0	MCTP2	92685074	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.178000	0.94855	1.442000	0.47568	-0.136000	0.14681	GAT		0.388	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		T	94884070	G	T	94884070	3	4	466	1	0	0	0	0	1	0	0	0	9403	942	33	4	908	4	MCTP2	15	94884070	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	18902463	94884070	7647322	52	25384											
PRSS21	10942	hgsc.bcm.edu	37	16	2868724	2868724	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:2868724C>G	ENST00000005995.3	+	4	346	c.304C>G	c.(304-306)Cag>Gag	p.Q102E	PRSS21_ENST00000450020.3_Missense_Mutation_p.Q102E|PRSS21_ENST00000455114.1_Missense_Mutation_p.Q100E			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CCAGTTTGGCCAGCTGACTTC	0.562																																																0													126	101	109					16																	2868724		2198	4300	6498	SO:0001583	missense	10942			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.304C>G	chr16.hg19:g.2868724C>G	ENSP00000005995:p.Gln102Glu		Q9NS34|Q9P2V6	Missense_Mutation	SNP	ENST00000005995.3	hg19	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	c	0.406	-0.915839	0.02415	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	D;D;D	0.87412	-2.25;-2.25;-2.25	4.9	0.325	0.15903	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.253065	0.20623	N	0.088727	T	0.57636	0.2067	N	0.00670	-1.27	0.09310	N	1	B;B;B	0.15930	0.015;0.012;0.012	B;B;B	0.12837	0.008;0.005;0.005	T	0.56220	-0.8015	10	0.02654	T	1	.	10.9331	0.47230	0.0:0.6074:0.267:0.1256	.	102;100;102	Q9Y6M0;Q9Y6M0-2;Q9Y6M0-3	TEST_HUMAN;.;.	E	100;102;102	ENSP00000400632:Q100E;ENSP00000407741:Q102E;ENSP00000005995:Q102E	ENSP00000005995:Q102E	Q	+	1	0	PRSS21	2808725	0.201000	0.23410	0.726000	0.30738	0.199000	0.23934	0.700000	0.25601	0.575000	0.29434	-0.299000	0.09455	CAG		0.562	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		G	2868724	C	G	2868724	3	3	466	1	0	0	0	0	1	0	0	0	12623	595	21	4	318	4	PRSS21	16	2868724	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08		2868724	87486029	53	25385											
ZNF597	146434	hgsc.bcm.edu	37	16	3487524	3487524	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:3487524G>C	ENST00000301744.4	-	4	410	c.175C>G	c.(175-177)Cct>Gct	p.P59A		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	59	KRAB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TTAATCTCAGGCTTGCCTTCC	0.413																																																0													49	50	50					16																	3487524		2197	4300	6497	SO:0001583	missense	146434			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.175C>G	chr16.hg19:g.3487524G>C	ENSP00000301744:p.Pro59Ala			Missense_Mutation	SNP	ENST00000301744.4	hg19	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.351852	0.00217	.	.	ENSG00000167981	ENST00000301744	T	0.08458	3.09	4.91	-1.26	0.09376	Krueppel-associated box (1);	0.486115	0.17564	N	0.169702	T	0.04227	0.0117	N	0.25201	0.72	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33929	-0.9849	10	0.62326	D	0.03	-0.9659	1.0959	0.01673	0.1461:0.1764:0.3287:0.3488	.	59	Q96LX8	ZN597_HUMAN	A	59	ENSP00000301744:P59A	ENSP00000301744:P59A	P	-	1	0	ZNF597	3427525	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.183000	0.16919	-0.121000	0.11787	-0.262000	0.10625	CCT		0.413	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		C	3487524	G	C	3487524	3	2	466	1	0	0	0	0	1	0	0	0	18032	1203	42	4	1103	4	ZNF597	16	3487524	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	618800	3487524	86867229	54	25386											
USP31	57478	hgsc.bcm.edu	37	16	23083424	23083424	+	Silent	SNP	G	G	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:23083424G>T	ENST00000219689.7	-	15	2429	c.2430C>A	c.(2428-2430)acC>acA	p.T810T	USP31_ENST00000567975.1_Silent_p.T103T	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACGCCAGGGAGGTGCGTCTGG	0.577																																																0													122	120	121					16																	23083424		2197	4300	6497	SO:0001819	synonymous_variant	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2430C>A	chr16.hg19:g.23083424G>T			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	hg19	CCDS10607.1																																																																																				0.577	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		T	23083424	G	T	23083424	2	4	466	1	0	0	0	0	0	0	0	1	17067	987	35	4		4	USP31	16	23083424	Silent	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	19595900	23083424	67271329	55	25387											
NUP93	9688	hgsc.bcm.edu	37	16	56792502	56792502	+	Silent	SNP	T	T	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:56792502T>C	ENST00000308159.5	+	3	353	c.232T>C	c.(232-234)Ttg>Ctg	p.L78L	NUP93_ENST00000569842.1_Silent_p.L78L	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	78					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTCCCAGCGATTGGAGAGTCT	0.512																																					Colon(33;610 796 1305 1705 38917)											0													108	94	98					16																	56792502		2198	4300	6498	SO:0001819	synonymous_variant	9688			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.232T>C	chr16.hg19:g.56792502T>C			B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	hg19	CCDS10769.1																																																																																				0.512	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		C	56792502	T	C	56792502	2	2	466	1	0	0	0	0	0	0	0	1	10774	1490	52	3		3	NUP93	16	56792502	Silent	SNP	T	TCGA-BQ-5890-01A-11D-1589-08	33709078	56792502	33562251	56	25388											
COG8	84342	hgsc.bcm.edu	37	16	69368791	69368791	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:69368791C>G	ENST00000306875.4	-	3	1160	c.1046G>C	c.(1045-1047)tGc>tCc	p.C349S	RP11-343C2.12_ENST00000562949.1_5'Flank|COG8_ENST00000562081.1_Missense_Mutation_p.C349S	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	349					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						AAAGTACATGCACTGGCCCAG	0.592																																																0													57	60	59					16																	69368791		2198	4300	6498	SO:0001583	missense	84342			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1046G>C	chr16.hg19:g.69368791C>G	ENSP00000305459:p.Cys349Ser		Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	hg19	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460053	0.84317	.	.	ENSG00000213380	ENST00000306875	T	0.47528	0.84	5.93	5.93	0.95920	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	L	0.61218	1.895	0.80722	D	1	B;B	0.33379	0.41;0.41	P;P	0.46917	0.531;0.531	T	0.54330	-0.8310	10	0.35671	T	0.21	-0.7999	20.3363	0.98740	0.0:1.0:0.0:0.0	.	376;349	B4DYU2;Q96MW5	.;COG8_HUMAN	S	349	ENSP00000305459:C349S	ENSP00000305459:C349S	C	-	2	0	COG8	67926292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.441000	0.80485	2.814000	0.96858	0.563000	0.77884	TGC		0.592	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		G	69368791	C	G	69368791	3	3	466	1	0	0	0	0	1	0	0	0	3666	710	25	4	804	4	COG8	16	69368791	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08	12576289	69368791	20985962	57	25389											
ZNF778	197320	hgsc.bcm.edu	37	16	89294017	89294017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:89294017C>T	ENST00000433976.2	+	6	1569	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Nonsense_Mutation_p.R371*	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TAGACACGTACGAACACACAC	0.498																																																0													92	96	94					16																	89294017		2154	4282	6436	SO:0001587	stop_gained	197320			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1237C>T	chr16.hg19:g.89294017C>T	ENSP00000405289:p.Arg413*		Q08AG0	Nonsense_Mutation	SNP	ENST00000433976.2	hg19	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468936	0.96274	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	.	.	.	1.13	-0.119	0.13543	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1288	0.14899	0.6032:0.3967:0.0:0.0	.	.	.	.	X	413;371	.	ENSP00000305203:R371X	R	+	1	2	ZNF778	87821518	0.000000	0.05858	0.002000	0.10522	0.104000	0.19210	-0.846000	0.04336	-0.009000	0.14296	0.558000	0.71614	CGA		0.498	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		T	89294017	C	T	89294017	4	4	466	1	0	0	0	0	0	1	0	0	18156	528	19	1	1255	1	ZNF778	16	89294017	Nonsense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08	19925226	89294017	1060736	58	25390											
DEF8	54849	hgsc.bcm.edu	37	16	90015887	90015887	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:90015887C>A	ENST00000268676.7	+	2	103	c.14C>A	c.(13-15)tCc>tAc	p.S5Y	DEF8_ENST00000567874.1_5'UTR|DEF8_ENST00000563594.1_5'UTR|DEF8_ENST00000570182.1_5'UTR|DEF8_ENST00000418391.2_5'UTR|DEF8_ENST00000563795.1_5'UTR|DEF8_ENST00000569453.1_5'UTR	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	5					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GCCATCCTGTCCCTGCGAGCC	0.672																																																0													46	47	47					16																	90015887		2198	4300	6498	SO:0001583	missense	54849			AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.14C>A	chr16.hg19:g.90015887C>A	ENSP00000268676:p.Ser5Tyr		B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	hg19	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417522	0.42918	.	.	ENSG00000140995	ENST00000268676	T	0.50001	0.76	2.59	-0.8	0.10897	.	.	.	.	.	T	0.23014	0.0556	N	0.08118	0	0.09310	N	0.999994	B	0.16166	0.016	B	0.16289	0.015	T	0.18745	-1.0327	9	0.87932	D	0	.	3.1996	0.06645	0.0:0.4875:0.226:0.2865	.	5	Q6ZN54	DEFI8_HUMAN	Y	5	ENSP00000268676:S5Y	ENSP00000268676:S5Y	S	+	2	0	DEF8	88543388	0.007000	0.16637	0.000000	0.03702	0.020000	0.10135	1.378000	0.34328	-0.124000	0.11724	0.511000	0.50034	TCC		0.672	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		A	90015887	C	A	90015887	3	1	466	1	0	0	0	0	1	0	0	0	4389	855	30	4	16	4	DEF8	16	90015887	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08	721870	90015887	338866	59	25391											
KDM6B	23135	hgsc.bcm.edu	37	17	7755372	7755372	+	Silent	SNP	T	T	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr17:7755372T>G	ENST00000448097.2	+	18	4600	c.4269T>G	c.(4267-4269)gcT>gcG	p.A1423A	KDM6B_ENST00000254846.5_Silent_p.A1423A			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1423	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCATCAGCGCTTTCTGTGATC	0.632											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													95	82	86					17																	7755372		2203	4300	6503	SO:0001819	synonymous_variant	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.4269T>G	chr17.hg19:g.7755372T>G		644	C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	hg19																																																																																					0.632	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		G	7755372	T	G	7755372	2	3	466	1	0	0	0	0	0	0	0	1	8140	1596	56	5		5	KDM6B	17	7755372	Silent	SNP	T	TCGA-BQ-5890-01A-11D-1589-08		7755372	73439838	60	25392											
ABCA9	10350	hgsc.bcm.edu	37	17	66981100	66981100	+	Silent	SNP	G	G	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr17:66981100G>A	ENST00000340001.4	-	34	4516	c.4305C>T	c.(4303-4305)atC>atT	p.I1435I	ABCA9_ENST00000453985.2_Silent_p.I1397I|ABCA9_ENST00000370732.2_Intron|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1435	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGTTCCCCAGGATGCTCAGCA	0.597																																																0													132	116	121					17																	66981100		2203	4300	6503	SO:0001819	synonymous_variant	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4305C>T	chr17.hg19:g.66981100G>A			Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	hg19	CCDS11681.1																																																																																				0.597	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		A	66981100	G	A	66981100	2	1	466	1	0	0	0	0	0	0	0	1	39	1164	41	2		2	ABCA9	17	66981100	Silent	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	59225728	66981100	14214110	61	25393											
ABCA10	10349	hgsc.bcm.edu	37	17	67170778	67170778	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr17:67170778G>T	ENST00000269081.4	-	25	3927	c.3018C>A	c.(3016-3018)ttC>ttA	p.F1006L	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1006					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGAAAGCTGGAATCCCAGAA	0.333																																																0													78	86	83					17																	67170778		2202	4296	6498	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3018C>A	chr17.hg19:g.67170778G>T	ENSP00000269081:p.Phe1006Leu		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	hg19	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	2.023	-0.424331	0.04734	.	.	ENSG00000154263	ENST00000269081	D	0.84944	-1.92	3.1	2.05	0.26809	.	.	.	.	.	T	0.67277	0.2876	N	0.17474	0.49	0.09310	N	1	B	0.25351	0.124	B	0.26614	0.071	T	0.51942	-0.8641	9	0.11485	T	0.65	.	1.6357	0.02741	0.1265:0.2031:0.4424:0.2279	.	1006	Q8WWZ4	ABCAA_HUMAN	L	1006	ENSP00000269081:F1006L	ENSP00000269081:F1006L	F	-	3	2	ABCA10	64682373	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	-0.664000	0.05292	0.551000	0.29008	0.407000	0.27541	TTC		0.333	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		T	67170778	G	T	67170778	3	4	466	1	0	0	0	0	1	0	0	0	29	1165	41	4	1677	4	ABCA10	17	67170778	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	189678	67170778	14024432	62	25394											
FASN	2194	hgsc.bcm.edu	37	17	80050833	80050833	+	Missense_Mutation	SNP	G	G	A	rs200752265		TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr17:80050833G>A	ENST00000306749.2	-	6	936	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	240	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TACACCCGCCGGGCCAGGGAC	0.682																																					Colon(59;314 1043 11189 28578 32273)											0													30	31	31					17																	80050833		2183	4296	6479	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.718C>T	chr17.hg19:g.80050833G>A	ENSP00000304592:p.Arg240Trp		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841387	0.71488	.	.	ENSG00000169710	ENST00000306749	T	0.32988	1.43	4.64	2.47	0.30058	Thiolase-like, subgroup (1);Thiolase-like (1);	0.239450	0.32401	N	0.006145	T	0.51873	0.1700	M	0.86028	2.79	0.34231	D	0.676504	D	0.89917	1.0	D	0.66351	0.943	T	0.63350	-0.6657	10	0.87932	D	0	-32.0916	6.8759	0.24147	0.1029:0.0:0.2594:0.6378	.	240	P49327	FAS_HUMAN	W	240	ENSP00000304592:R240W	ENSP00000304592:R240W	R	-	1	2	FASN	77644122	0.246000	0.23909	0.993000	0.49108	0.893000	0.52053	1.570000	0.36439	0.338000	0.23692	0.313000	0.20887	CGG		0.682	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		A	80050833	G	A	80050833	3	1	466	1	0	0	0	0	1	0	0	0	5685	1115	39	1	6969	1	FASN	17	80050833	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	12880055	80050833	1144377	63	25395											
MED16	10025	hgsc.bcm.edu	37	19	879943	879943	+	Missense_Mutation	SNP	G	G	C	rs201392672|rs76403059	byFrequency	TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr19:879943G>C	ENST00000589119.1	-	7	1346	c.1347C>G	c.(1345-1347)caC>caG	p.H449Q	MED16_ENST00000395808.3_Missense_Mutation_p.H449Q|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.H449Q|MED16_ENST00000325464.1_Missense_Mutation_p.H449Q|MED16_ENST00000312090.6_Missense_Mutation_p.H449Q			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	449					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCTTCCCGTGGCTGTCAA	0.672																																																0													13	11	12					19																	879943		2152	4247	6399	SO:0001583	missense	10025			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1347C>G	chr19.hg19:g.879943G>C	ENSP00000464810:p.His449Gln		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	hg19	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	3.376	-0.127462	0.06753	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.21	-7.89	0.01174	WD40 repeat-like-containing domain (1);	0.323237	0.32357	N	0.006220	T	0.21307	0.0513	L	0.37850	1.14	0.37741	D	0.925623	B;B;B;B;B	0.13145	0.006;0.007;0.002;0.001;0.001	B;B;B;B;B	0.14023	0.006;0.006;0.003;0.006;0.01	T	0.20009	-1.0288	10	0.15066	T	0.55	-14.2411	8.1092	0.30905	0.4704:0.1904:0.3392:0.0	.	449;449;449;449;449	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	Q	449;449;449;449;449;305;210;208;449	ENSP00000325612:H449Q;ENSP00000308528:H449Q;ENSP00000379153:H449Q;ENSP00000269814:H449Q	ENSP00000269814:H449Q	H	-	3	2	MED16	830943	0.000000	0.05858	0.886000	0.34754	0.057000	0.15508	-3.404000	0.00482	-1.779000	0.01280	-2.326000	0.00250	CAC		0.672	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		C	879943	G	C	879943	3	2	466	1	0	0	0	0	1	0	0	0	9436	1136	40	4	1322	4	MED16	19	879943	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08		879943	58249040	64	25396											
CD97	976	hgsc.bcm.edu	37	19	14513447	14513447	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr19:14513447A>G	ENST00000242786.5	+	12	1302	c.1222A>G	c.(1222-1224)Acg>Gcg	p.T408A	CD97_ENST00000357355.3_Missense_Mutation_p.T359A|CD97_ENST00000358600.3_Missense_Mutation_p.T315A|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	408					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCAGAACATGACGACATTGCT	0.572																																																0													120	109	112					19																	14513447		2203	4300	6503	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1222A>G	chr19.hg19:g.14513447A>G	ENSP00000242786:p.Thr408Ala		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	hg19	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	A	3.783	-0.045280	0.07452	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.70045	-0.45;-0.37;0.01	5.12	-10.2	0.00374	.	.	.	.	.	T	0.45155	0.1328	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30634	0.288;0.288;0.003	B;B;B	0.26416	0.069;0.069;0.008	T	0.53078	-0.8489	9	0.37606	T	0.19	.	12.7911	0.57534	0.1338:0.4984:0.3678:0.0	.	315;359;408	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	A	408;359;315;358	ENSP00000242786:T408A;ENSP00000349918:T359A;ENSP00000351413:T315A	ENSP00000242786:T408A	T	+	1	0	CD97	14374447	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.355000	0.00500	-4.211000	0.00064	0.374000	0.22700	ACG		0.572	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		G	14513447	A	G	14513447	3	3	466	1	0	0	0	0	1	0	0	0	3051	275	10	3	1268	3	CD97	19	14513447	Missense_Mutation	SNP	A	TCGA-BQ-5890-01A-11D-1589-08	13633504	14513447	44615536	65	25397											
PPP1R15A	23645	hgsc.bcm.edu	37	19	49379135	49379135	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr19:49379135G>A	ENST00000200453.5	+	3	2199	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	644					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TTCGTCCCCAGTCCAGACCAC	0.672																																																0													122	120	121					19																	49379135		2203	4300	6503	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1930G>A	chr19.hg19:g.49379135G>A	ENSP00000200453:p.Val644Ile		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	hg19	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	7.302	0.613292	0.14066	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05081	3.5	2.9	-5.81	0.02340	.	2.513440	0.01909	N	0.039689	T	0.01905	0.0060	N	0.02916	-0.46	0.09310	N	1	B	0.22346	0.068	B	0.18263	0.021	T	0.35325	-0.9793	10	0.07030	T	0.85	0.3665	0.7652	0.01014	0.2207:0.1394:0.1939:0.446	.	644	O75807	PR15A_HUMAN	I	644;484;602	ENSP00000200453:V644I	ENSP00000200453:V644I	V	+	1	0	PPP1R15A	54070947	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.505000	0.06367	-1.336000	0.02238	-0.274000	0.10170	GTC		0.672	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		A	49379135	G	A	49379135	3	1	466	1	0	0	0	0	1	0	0	0	12368	1029	36	2	1936	2	PPP1R15A	19	49379135	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	34865688	49379135	9749848	66	25398											
ZNF773	374928	hgsc.bcm.edu	37	19	58018434	58018434	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr19:58018434T>C	ENST00000282292.4	+	4	1111	c.971T>C	c.(970-972)gTt>gCt	p.V324A	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.V323A|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CATCAGAGAGTTCACACTGGA	0.428																																																0													128	130	130					19																	58018434		2203	4300	6503	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.971T>C	chr19.hg19:g.58018434T>C	ENSP00000282292:p.Val324Ala		Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	hg19	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.418764	0.25552	.	.	ENSG00000152439	ENST00000282292	T	0.00976	5.48	1.17	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00906	0.0030	L	0.37850	1.14	0.09310	N	0.999999	P;B	0.39903	0.694;0.429	B;B	0.34652	0.133;0.187	T	0.51521	-0.8695	9	0.87932	D	0	.	5.4406	0.16507	0.0:0.0:0.2844:0.7155	.	323;324	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	A	324	ENSP00000282292:V324A	ENSP00000282292:V324A	V	+	2	0	ZNF773	62710246	0.000000	0.05858	0.990000	0.47175	0.939000	0.58152	0.440000	0.21592	0.785000	0.33685	0.254000	0.18369	GTT		0.428	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		C	58018434	T	C	58018434	3	2	466	1	0	0	0	0	1	0	0	0	18151	1725	60	3	985	3	ZNF773	19	58018434	Missense_Mutation	SNP	T	TCGA-BQ-5890-01A-11D-1589-08	8639299	58018434	1110549	67	25399											
PLCB1	23236	hgsc.bcm.edu	37	20	8741054	8741054	+	Splice_Site	SNP	G	G	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:8741054G>T	ENST00000338037.6	+	25	2684	c.2657G>T	c.(2656-2658)gGt>gTt	p.G886V	PLCB1_ENST00000378637.2_Splice_Site_p.G886V|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Splice_Site_p.G886V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	886					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TATATTACAGGTTCTGTAAAG	0.348																																																0													42	42	42					20																	8741054		2203	4300	6503	SO:0001630	splice_region_variant	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2657-1G>T	chr20.hg19:g.8741054G>T			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	hg19	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522308	0.64747	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.19250	2.17;2.16;2.17	6.07	6.07	0.98685	.	0.168672	0.52532	D	0.000067	T	0.39384	0.1076	L	0.44542	1.39	0.80722	D	1	D;D	0.65815	0.988;0.995	P;D	0.63113	0.676;0.911	T	0.00559	-1.1671	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	886;886	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	V	886;886;886;806;806	ENSP00000367908:G886V;ENSP00000338185:G886V;ENSP00000367904:G886V	.	G	+	2	0	PLCB1	8689054	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	8.960000	0.93117	2.885000	0.99019	0.655000	0.94253	GGT		0.348	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		Missense_Mutation	T	8741054	G	T	8741054	5	4	466	1	0	0	0	0	0	0	1	0	12029	1275	44	4	2755	4	PLCB1	20	8741054	Splice_Site	SNP	G	TCGA-BQ-5890-01A-11D-1589-08		8741054	54284466	68	25400											
KCNS1	3787	hgsc.bcm.edu	37	20	43726464	43726464	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:43726464A>T	ENST00000306117.1	-	4	1345	c.949T>A	c.(949-951)Tat>Aat	p.Y317N	KCNS1_ENST00000537075.1_Missense_Mutation_p.Y317N	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	317					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				AGCGTGAGATAGAAGGGCAGC	0.632																																																0													74	57	62					20																	43726464		2203	4300	6503	SO:0001583	missense	3787			AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.949T>A	chr20.hg19:g.43726464A>T	ENSP00000307694:p.Tyr317Asn		A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	hg19	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403414	0.83230	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.98701	-5.08;-5.08	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98784	1.0733	10	0.87932	D	0	.	15.2726	0.73717	1.0:0.0:0.0:0.0	.	317	Q96KK3	KCNS1_HUMAN	N	317	ENSP00000307694:Y317N;ENSP00000445595:Y317N	ENSP00000307694:Y317N	Y	-	1	0	KCNS1	43159878	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.220000	0.95180	2.015000	0.59207	0.459000	0.35465	TAT		0.632	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		T	43726464	A	T	43726464	3	4	466	1	0	0	0	0	1	0	0	0	8090	420	15	5	639	5	KCNS1	20	43726464	Missense_Mutation	SNP	A	TCGA-BQ-5890-01A-11D-1589-08	34985410	43726464	19299056	69	25401											
WFDC2	10406	hgsc.bcm.edu	37	20	44108666	44108666	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:44108666G>A	ENST00000372676.3	+	3	384	c.308G>A	c.(307-309)tGt>tAt	p.C103Y	WFDC2_ENST00000342873.3_Missense_Mutation_p.C52Y|WFDC2_ENST00000339946.3_Missense_Mutation_p.C55Y|WFDC2_ENST00000488143.1_3'UTR|AL031663.1_ENST00000599747.1_5'Flank	NM_006103.3	NP_006094.3	Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	103	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase inhibitor activity (GO:0019828)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1		Myeloproliferative disorder(115;0.0122)				GACAGCCAGTGTCCTGGCCAG	0.537																																																0													107	112	110					20																	44108666		2203	4300	6503	SO:0001583	missense	10406			X63187	CCDS35501.1	20q13.12	2013-01-21			ENSG00000101443	ENSG00000101443		"WAP four-disulfide core domain containing"	15939	protein-coding gene	gene with protein product	"epididymal protein 4"					1686187, 10570965	Standard	NM_006103		Approved	HE4, WAP5, dJ461P17.6, EDDM4	uc002xoo.3	Q14508	OTTHUMG00000032594	ENST00000372676.3:c.308G>A	chr20.hg19:g.44108666G>A	ENSP00000361761:p.Cys103Tyr		A2A2A5|A2A2A6|A6PVD5|Q6IB27|Q8WXV9|Q8WXW0|Q8WXW1|Q8WXW2|Q96KJ1	Missense_Mutation	SNP	ENST00000372676.3	hg19	CCDS35501.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620538	0.46736	.	.	ENSG00000101443	ENST00000372676;ENST00000339946;ENST00000342873	D;D;D	0.99239	-5.61;-5.61;-5.61	5.26	5.26	0.73747	Whey acidic protein, 4-disulphide core (5);	0.000000	0.64402	D	0.000017	D	0.99670	0.9877	H	0.98276	4.19	0.43947	D	0.996613	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.97440	1.0021	10	0.87932	D	0	-13.7907	14.7141	0.69254	0.0:0.0:1.0:0.0	.	52;55;103	Q14508-2;Q14508-3;Q14508	.;.;WFDC2_HUMAN	Y	103;55;52	ENSP00000361761:C103Y;ENSP00000340215:C55Y;ENSP00000342890:C52Y	ENSP00000340215:C55Y	C	+	2	0	WFDC2	43542080	0.997000	0.39634	0.953000	0.39169	0.096000	0.18686	3.179000	0.50887	2.598000	0.87819	0.655000	0.94253	TGT		0.537	WFDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079476.3			A	44108666	G	A	44108666	3	1	466	1	0	0	0	0	1	0	0	0	17357	1377	48	2	318	2	WFDC2	20	44108666	Missense_Mutation	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	382202	44108666	18916854	70	25402											
DNTTIP1	116092	hgsc.bcm.edu	37	20	44424050	44424050	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:44424050A>G	ENST00000372622.3	+	4	408	c.340A>G	c.(340-342)Atc>Gtc	p.I114V		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	114						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGAGCAGCTGATCCAGGAAGC	0.557																																																0													48	32	38					20																	44424050		2203	4300	6503	SO:0001583	missense	116092			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.340A>G	chr20.hg19:g.44424050A>G	ENSP00000361705:p.Ile114Val		B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	ENST00000372622.3	hg19	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	17.46|17.46	3.396221|3.396221	0.62177|0.62177	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000372622;ENST00000449078;ENST00000415790|ENST00000435014	T;T|.	0.48201|.	0.92;0.82|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.045638|.	0.85682|.	D|.	0.000000|.	T|.	0.60715|.	0.2290|.	L|L	0.42686|0.42686	1.345|1.345	0.44711|0.44711	D|D	0.997702|0.997702	B|.	0.28850|.	0.225|.	B|.	0.30316|.	0.114|.	T|.	0.57551|.	-0.7792|.	10|.	0.35671|.	T|.	0.21|.	-18.7653|-18.7653	14.5366|14.5366	0.67966|0.67966	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	114|.	Q9H147|.	TDIF1_HUMAN|.	V|W	114;109;74|40	ENSP00000361705:I114V;ENSP00000392509:I74V|.	ENSP00000361705:I114V|.	I|X	+|+	1|3	0|0	DNTTIP1|DNTTIP1	43857457|43857457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.264000|7.264000	0.78432|0.78432	2.304000|2.304000	0.77564|0.77564	0.524000|0.524000	0.50904|0.50904	ATC|TGA		0.557	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		G	44424050	A	G	44424050	3	3	466	1	0	0	0	0	1	0	0	0	4683	333	12	3	354	3	DNTTIP1	20	44424050	Missense_Mutation	SNP	A	TCGA-BQ-5890-01A-11D-1589-08	315384	44424050	18601470	71	25403											
PSMA7	5688	hgsc.bcm.edu	37	20	60714841	60714841	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:60714841T>G	ENST00000370873.4	-	3	470	c.344A>C	c.(343-345)aAg>aCg	p.K115T	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370858.3_Missense_Mutation_p.K115T|PSMA7_ENST00000370861.1_Missense_Mutation_p.K45T	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	115					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)	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)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			ACCCACCTGCTTCAGACTGGC	0.617																																																0													67	55	59					20																	60714841		2203	4300	6503	SO:0001583	missense	5688			AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"Proteasome (prosome, macropain) subunits"	9536	protein-coding gene	gene with protein product	"proteasome subunit XAPC7", "proteasome subunit RC6-1"	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.344A>C	chr20.hg19:g.60714841T>G	ENSP00000359910:p.Lys115Thr		B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Missense_Mutation	SNP	ENST00000370873.4	hg19	CCDS13489.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.47|19.47	3.834596|3.834596	0.71373|0.71373	.|.	.|.	ENSG00000101182|ENSG00000101182	ENST00000370873;ENST00000370861;ENST00000370858|ENST00000442551	T;T;T|.	0.21191|.	2.02;2.02;2.02|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80110|0.80110	0.4563|0.4563	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	P|.	0.46578|.	0.88|.	P|.	0.55391|.	0.775|.	D|D	0.83890|0.83890	0.0284|0.0284	10|5	0.87932|.	D|.	0|.	.|.	14.9125|14.9125	0.70770|0.70770	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	115|.	O14818|.	PSA7_HUMAN|.	T|R	115;45;115|41	ENSP00000359910:K115T;ENSP00000359898:K45T;ENSP00000359895:K115T|.	ENSP00000359895:K115T|.	K|S	-|-	2|1	0|0	PSMA7|PSMA7	60148236|60148236	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.264000|0.264000	0.26372|0.26372	7.469000|7.469000	0.80959|0.80959	1.974000|1.974000	0.57490|0.57490	0.460000|0.460000	0.39030|0.39030	AAG|AGC		0.617	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079975.1	NM_002792		G	60714841	T	G	60714841	3	3	466	1	0	0	0	0	1	0	0	0	12677	1609	56	5	422	5	PSMA7	20	60714841	Missense_Mutation	SNP	T	TCGA-BQ-5890-01A-11D-1589-08	16290791	60714841	2310679	72	25404											
PRPF6	57473	hgsc.bcm.edu	37	20	62642772	62642772	+	Intron	SNP	G	G	C	rs199552405		TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:62642772G>C	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Silent_p.T480T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGGGAACACGCAGATGGTGG	0.587																																																0													94	77	83					20																	62642772		2203	4300	6503	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+37285C>G	chr20.hg19:g.62642772G>C			Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	hg19	CCDS13548.1																																																																																				0.587	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		C	62642772	G	C	62642772	1	2	466	0	1	0	0	0	0	0	0	0	12579	1074	38	4		4	PRPF6	20	62642772	Intron	SNP	G	TCGA-BQ-5890-01A-11D-1589-08	1927931	62642772	382748	73	25405											
SON	6651	hgsc.bcm.edu	37	21	34925625	34925625	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr21:34925625C>T	ENST00000356577.4	+	3	4563	c.4088C>T	c.(4087-4089)tCg>tTg	p.S1363L	SON_ENST00000290239.6_Missense_Mutation_p.S1363L|SON_ENST00000300278.4_Missense_Mutation_p.S1363L|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S1363L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1363	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTGGAGTCTTCGGCTGTGACC	0.577																																																0													52	45	48					21																	34925625		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4088C>T	chr21.hg19:g.34925625C>T	ENSP00000348984:p.Ser1363Leu		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	hg19	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.86|11.86	1.765064|1.765064	0.31228|0.31228	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.11930	.|2.93;2.93;2.92;2.73	5.08|5.08	4.2|4.2	0.49525|0.49525	.|.	.|0.972270	.|0.08431	.|N	.|0.946875	T|T	0.10035|0.10035	0.0246|0.0246	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.20780	.|0.048;0.004;0.019;0.007;0.019	.|B;B;B;B;B	.|0.09377	.|0.004;0.001;0.004;0.004;0.004	T|T	0.26360|0.26360	-1.0105|-1.0105	5|10	.|0.36615	.|T	.|0.2	.|.	9.0913|9.0913	0.36612|0.36612	0.0:0.9012:0.0:0.0988|0.0:0.9012:0.0:0.0988	.|.	.|1363;1363;1044;1363;1363	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	W|L	358|1363	.|ENSP00000348984:S1363L;ENSP00000290239:S1363L;ENSP00000300278:S1363L;ENSP00000371095:S1363L	.|ENSP00000290239:S1363L	R|S	+|+	1|2	2|0	SON|SON	33847495|33847495	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	0.354000|0.354000	0.20146|0.20146	1.362000|1.362000	0.46000|0.46000	0.514000|0.514000	0.50259|0.50259	CGG|TCG		0.577	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		T	34925625	C	T	34925625	3	4	466	1	0	0	0	0	1	0	0	0	14932	893	31	1	4098	1	SON	21	34925625	Missense_Mutation	SNP	C	TCGA-BQ-5890-01A-11D-1589-08		34925625	13204270	74	25406											
STAG2	10735	hgsc.bcm.edu	37	X	123200037	123200037	+	Silent	SNP	T	T	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chrX:123200037T>C	ENST00000371160.1	+	22	2399	c.2109T>C	c.(2107-2109)ctT>ctC	p.L703L	STAG2_ENST00000371144.3_Silent_p.L703L|STAG2_ENST00000371157.3_Silent_p.L703L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.L703L|STAG2_ENST00000354548.5_Silent_p.L634L|STAG2_ENST00000371145.3_Silent_p.L703L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	703					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCCATGACCTTTCAAAGTGGG	0.294																																																0													60	61	61					X																	123200037		2202	4298	6500	SO:0001819	synonymous_variant	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2109T>C	chrX.hg19:g.123200037T>C			B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	hg19	CCDS14607.1																																																																																				0.294	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		C	123200037	T	C	123200037	2	2	466	1	0	0	0	0	0	0	0	1	15248	1828	64	3		3	STAG2	23	123200037	Silent	SNP	T	TCGA-BQ-5890-01A-11D-1589-08		123200037	32070523	75	25407											
XPO1	7514	hgsc.bcm.edu	37	2	61709536	61709536	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr2:61709536G>A	ENST00000401558.2	-	23	3678	c.2951C>T	c.(2950-2952)tCg>tTg	p.S984L	XPO1_ENST00000404992.2_Missense_Mutation_p.S984L|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|XPO1_ENST00000406957.1_Missense_Mutation_p.S984L|RP11-355B11.2_ENST00000603652.1_RNA|RP11-355B11.2_ENST00000605437.1_RNA|RP11-355B11.2_ENST00000603199.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	984					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AGGGAAGGCCGACTTAAGGAG	0.398			Mis		CLL																																	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0													129	130	129					2																	61709536		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2951C>T	chr2.hg19:g.61709536G>A	ENSP00000384863:p.Ser984Leu		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	hg19	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953001	0.73902	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.68025	-0.3;-0.3;-0.3	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.055426	0.85682	D	0.000000	T	0.68366	0.2993	M	0.75615	2.305	0.58432	D	0.999998	B;B	0.31752	0.338;0.233	B;B	0.24848	0.034;0.056	T	0.70883	-0.4751	10	0.66056	D	0.02	-16.6961	19.6691	0.95903	0.0:0.0:1.0:0.0	.	631;984	B3KWD0;O14980	.;XPO1_HUMAN	L	984	ENSP00000384863:S984L;ENSP00000385942:S984L;ENSP00000385559:S984L	ENSP00000384863:S984L	S	-	2	0	XPO1	61563040	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.529000	0.81952	2.721000	0.93114	0.591000	0.81541	TCG		0.398	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		A	61709536	G	A	61709536	3	1	467	1	0	0	0	0	1	0	0	0	17450	1059	37	1	276	1	XPO1	2	61709536	Missense_Mutation	SNP	G	TCGA-BQ-5891-01A-11D-1589-08		61709536	181489837	1	25408											
LRP1B	53353	hgsc.bcm.edu	37	2	141643776	141643776	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr2:141643776G>C	ENST00000389484.3	-	24	4866	c.3895C>G	c.(3895-3897)Caa>Gaa	p.Q1299E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1299					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.Q1299K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTAAACTTTGATTGAAGTGA	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	endometrium(1)											77	79	78					2																	141643776		2202	4299	6501	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3895C>G	chr2.hg19:g.141643776G>C	ENSP00000374135:p.Gln1299Glu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144239	0.57044	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.90620	-2.7;-2.7	5.68	5.68	0.88126	Six-bladed beta-propeller, TolB-like (1);	0.140025	0.48767	D	0.000173	T	0.81597	0.4856	N	0.13043	0.29	0.42707	D	0.993639	B;B	0.34015	0.009;0.435	B;B	0.24974	0.009;0.057	T	0.79825	-0.1640	10	0.12430	T	0.62	.	19.7974	0.96491	0.0:0.0:1.0:0.0	.	482;1299	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	E	1299;1237;444	ENSP00000374135:Q1299E;ENSP00000413239:Q444E	ENSP00000374135:Q1299E	Q	-	1	0	LRP1B	141360246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.640000	0.98453	2.673000	0.90976	0.650000	0.86243	CAA		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		C	141643776	G	C	141643776	3	2	467	1	0	0	0	0	1	0	0	0	8957	1299	45	4	10176	4	LRP1B	2	141643776	Missense_Mutation	SNP	G	TCGA-BQ-5891-01A-11D-1589-08	79934240	141643776	101555597	2	25409											
SETD2	29072	hgsc.bcm.edu	37	3	47162849	47162850	+	Frame_Shift_Del	DEL	TT	TT	-	rs114327122		TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr3:47162849_47162850delTT	ENST00000409792.3	-	3	3318_3319	c.3276_3277delAA	c.(3274-3279)caaagtfs	p.S1093fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1093					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.S1093R(1)|p.S590R(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGTCTATAACTTTGACTGCTCC	0.416			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3276_3277delAA	chr3.hg19:g.47162849_47162850delTT	ENSP00000386759:p.Ser1093fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	hg19	CCDS2749.2																																																																																				0.416	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47162850	TT	-	47162849	7	5	467	1	0	1	0	1	0	0	0	0	14137	1609	56	0	4493	0	SETD2	3	47162849	Frame_Shift_Del	DEL	TT	TCGA-BQ-5891-01A-11D-1589-08		47162849	150859581	3	25410											
IQCF2	389123	hgsc.bcm.edu	37	3	51897176	51897176	+	Silent	SNP	C	C	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr3:51897176C>A	ENST00000333127.3	+	3	314	c.285C>A	c.(283-285)gcC>gcA	p.A95A	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	95										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTCTGATCGCCTACGCAACCA	0.582																																																0													118	114	115					3																	51897176		2203	4300	6503	SO:0001819	synonymous_variant	389123			AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.285C>A	chr3.hg19:g.51897176C>A				Silent	SNP	ENST00000333127.3	hg19	CCDS2835.1																																																																																				0.582	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		A	51897176	C	A	51897176	2	1	467	1	0	0	0	0	0	0	0	1	7810	668	24	4		4	IQCF2	3	51897176	Silent	SNP	C	TCGA-BQ-5891-01A-11D-1589-08	4734327	51897176	146125254	4	25411											
ACTL6A	86	hgsc.bcm.edu	37	3	179304341	179304341	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr3:179304341G>A	ENST00000429709.2	+	13	1343	c.1130G>A	c.(1129-1131)cGg>cAg	p.R377Q	RP11-15L13.4_ENST00000608818.1_RNA|RP11-145M9.6_ENST00000610007.1_RNA|ACTL6A_ENST00000392662.1_Missense_Mutation_p.R335Q|ACTL6A_ENST00000450518.2_Missense_Mutation_p.R335Q	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	377					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CAGAGTATGCGGTTGAAATTG	0.348																																																0													88	88	88					3																	179304341		2203	4300	6503	SO:0001583	missense	86			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.1130G>A	chr3.hg19:g.179304341G>A	ENSP00000397552:p.Arg377Gln		B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	hg19	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140591	0.94560	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.94687	-3.49;-3.49;-3.49	5.91	4.07	0.47477	.	0.049963	0.85682	D	0.000000	D	0.95984	0.8692	L	0.59436	1.845	0.58432	D	0.999997	D	0.76494	0.999	D	0.64321	0.924	D	0.95826	0.8854	10	0.87932	D	0	.	15.2754	0.73737	0.0:0.0:0.7438:0.2562	.	377	O96019	ACL6A_HUMAN	Q	377;335;335	ENSP00000397552:R377Q;ENSP00000394014:R335Q;ENSP00000376430:R335Q	ENSP00000376430:R335Q	R	+	2	0	ACTL6A	180787035	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.371000	0.97162	0.789000	0.33779	0.655000	0.94253	CGG		0.348	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		A	179304341	G	A	179304341	3	1	467	1	0	0	0	0	1	0	0	0	198	1116	39	1	1180	1	ACTL6A	3	179304341	Missense_Mutation	SNP	G	TCGA-BQ-5891-01A-11D-1589-08	127407165	179304341	18718089	5	25412											
KLHL3	26249	hgsc.bcm.edu	37	5	136963990	136963990	+	Silent	SNP	G	G	A	rs562736621		TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr5:136963990G>A	ENST00000309755.4	-	13	2030	c.1587C>T	c.(1585-1587)aaC>aaT	p.N529N	KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000508657.1_Silent_p.N497N|KLHL3_ENST00000506491.1_Silent_p.N447N|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	529			N -> K (in PHA2D; impaired interaction with WNK1). {ECO:0000269|PubMed:22406640}.		distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CATTACCTGCGTTGCGCCGGC	0.537																																																0													219	189	199					5																	136963990		2203	4300	6503	SO:0001819	synonymous_variant	26249			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1587C>T	chr5.hg19:g.136963990G>A			B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	hg19	CCDS4192.1																																																																																				0.537	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			A	136963990	G	A	136963990	2	1	467	1	0	0	0	0	0	0	0	1	8385	1136	40	1		1	KLHL3	5	136963990	Silent	SNP	G	TCGA-BQ-5891-01A-11D-1589-08		136963990	43951270	6	25413											
PCDHGA1	56114	hgsc.bcm.edu	37	5	140711928	140711928	+	Silent	SNP	G	G	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr5:140711928G>A	ENST00000517417.1	+	1	1677	c.1677G>A	c.(1675-1677)gcG>gcA	p.A559A	PCDHGA1_ENST00000378105.3_Silent_p.A559A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	559	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(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCGCCCGAGATCC	0.647																																																0													130	144	140					5																	140711928		2203	4300	6503	SO:0001819	synonymous_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1677G>A	chr5.hg19:g.140711928G>A			Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	hg19	CCDS54922.1																																																																																				0.647	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		A	140711928	G	A	140711928	2	1	467	1	0	0	0	0	0	0	0	1	11552	1074	38	1		1	PCDHGA1	5	140711928	Silent	SNP	G	TCGA-BQ-5891-01A-11D-1589-08	3747938	140711928	40203332	7	25414											
DRD1	1812	hgsc.bcm.edu	37	5	174870046	174870046	+	Silent	SNP	G	G	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr5:174870046G>A	ENST00000393752.2	-	2	1049	c.57C>T	c.(55-57)gaC>gaT	p.D19D		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	19					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAACAGAGAAGTCCCTCTCCA	0.572																																																0													106	108	107					5																	174870046		2203	4300	6503	SO:0001819	synonymous_variant	1812			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.57C>T	chr5.hg19:g.174870046G>A			B2RA44|Q4QRJ0	Silent	SNP	ENST00000393752.2	hg19	CCDS4393.1																																																																																				0.572	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		A	174870046	G	A	174870046	2	1	467	1	0	0	0	0	0	0	0	1	4758	1020	36	2		2	DRD1	5	174870046	Silent	SNP	G	TCGA-BQ-5891-01A-11D-1589-08	34158118	174870046	6045214	8	25415											
UBR2	23304	hgsc.bcm.edu	37	6	42657391	42657391	+	Silent	SNP	G	G	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr6:42657391G>A	ENST00000372899.1	+	46	5367	c.5109G>A	c.(5107-5109)gaG>gaA	p.E1703E	UBR2_ENST00000372901.1_Silent_p.E1703E|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1703					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACTATGGGGAGACCGACCAGG	0.517																																																0													254	259	257					6																	42657391		2203	4300	6503	SO:0001819	synonymous_variant	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5109G>A	chr6.hg19:g.42657391G>A			O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	hg19	CCDS4870.1																																																																																				0.517	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		A	42657391	G	A	42657391	2	1	467	1	0	0	0	0	0	0	0	1	16907	933	33	2		2	UBR2	6	42657391	Silent	SNP	G	TCGA-BQ-5891-01A-11D-1589-08		42657391	128457676	9	25416											
DOPEY1	23033	hgsc.bcm.edu	37	6	83862077	83862077	+	Silent	SNP	A	A	G			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr6:83862077A>G	ENST00000349129.2	+	30	6380	c.6120A>G	c.(6118-6120)ttA>ttG	p.L2040L	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.L2031L|DOPEY1_ENST00000237163.5_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2040					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CATTGACATTACTCTCTGAGG	0.294																																																0													62	63	63					6																	83862077		2203	4291	6494	SO:0001819	synonymous_variant	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6120A>G	chr6.hg19:g.83862077A>G			Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	hg19	CCDS4996.1																																																																																				0.294	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		G	83862077	A	G	83862077	2	3	467	1	0	0	0	0	0	0	0	1	4709	388	14	3		3	DOPEY1	6	83862077	Silent	SNP	A	TCGA-BQ-5891-01A-11D-1589-08	41204686	83862077	87252990	10	25417											
USP45	85015	hgsc.bcm.edu	37	6	99930682	99930682	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr6:99930682C>A	ENST00000327681.6	-	8	1324	c.792G>T	c.(790-792)gaG>gaT	p.E264D	USP45_ENST00000329966.6_Missense_Mutation_p.E264D|USP45_ENST00000500704.2_Missense_Mutation_p.E264D|USP45_ENST00000392738.2_Intron|USP45_ENST00000369233.2_Missense_Mutation_p.E264D|USP45_ENST00000472914.2_Missense_Mutation_p.E264D	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	264	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTTTTTCAGTCTCCTTCATGC	0.383																																																0													82	85	84					6																	99930682		2203	4300	6503	SO:0001583	missense	85015			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.792G>T	chr6.hg19:g.99930682C>A	ENSP00000333376:p.Glu264Asp		B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	hg19	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164251	0.38217	.	.	ENSG00000123552	ENST00000500704;ENST00000327681;ENST00000369233;ENST00000511403;ENST00000329966;ENST00000472914	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.32	3.4	0.38934	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.16257	0.0391	L	0.41961	1.31	0.80722	D	1	B;B	0.30482	0.039;0.281	B;B	0.39185	0.039;0.293	T	0.03630	-1.1018	10	0.42905	T	0.14	.	9.9212	0.41466	0.0:0.7614:0.0:0.2386	.	264;264	D6RBV3;Q70EL2	.;UBP45_HUMAN	D	264;264;264;20;264;264	ENSP00000424372:E264D;ENSP00000333376:E264D;ENSP00000358236:E264D;ENSP00000423374:E20D;ENSP00000330540:E264D;ENSP00000423993:E264D	ENSP00000333376:E264D	E	-	3	2	USP45	100037403	0.155000	0.22806	0.998000	0.56505	0.743000	0.42351	-0.128000	0.10531	0.616000	0.30141	0.557000	0.71058	GAG		0.383	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		A	99930682	C	A	99930682	3	1	467	1	0	0	0	0	1	0	0	0	17081	912	32	4	1696	4	USP45	6	99930682	Missense_Mutation	SNP	C	TCGA-BQ-5891-01A-11D-1589-08	16068605	99930682	71184385	11	25418											
IRF5	3663	hgsc.bcm.edu	37	7	128587532	128587532	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr7:128587532C>T	ENST00000402030.2	+	6	754	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	IRF5_ENST00000249375.4_Missense_Mutation_p.P228S|IRF5_ENST00000473745.1_Missense_Mutation_p.P228S|IRF5_ENST00000477535.1_Intron|IRF5_ENST00000357234.5_Missense_Mutation_p.P244S	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	228					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGCCAGCCTGCCCCCTGCAGG	0.682																																																0													15	18	17					7																	128587532		2120	4170	6290	SO:0001583	missense	3663				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.682C>T	chr7.hg19:g.128587532C>T	ENSP00000385352:p.Pro228Ser		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	hg19	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630932	0.67015	.	.	ENSG00000128604	ENST00000357234;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D	0.97529	-4.4;-4.42;-4.42;-4.42	5.26	2.02	0.26589	.	0.848323	0.10423	N	0.676477	D	0.95175	0.8436	L	0.53249	1.67	0.36808	D	0.885713	B;B	0.30634	0.043;0.288	B;B	0.35413	0.027;0.202	D	0.93066	0.6478	10	0.56958	D	0.05	-11.2851	8.0991	0.30846	0.1597:0.4338:0.4065:0.0	.	228;244	Q13568;Q13568-2	IRF5_HUMAN;.	S	244;228;228;228;218	ENSP00000349770:P244S;ENSP00000385352:P228S;ENSP00000249375:P228S;ENSP00000419149:P228S	ENSP00000249375:P228S	P	+	1	0	IRF5	128374768	0.309000	0.24518	0.269000	0.24586	0.935000	0.57460	0.974000	0.29436	0.667000	0.31107	0.561000	0.74099	CCC		0.682	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		T	128587532	C	T	128587532	3	4	467	1	0	0	0	0	1	0	0	0	7835	739	26	2	748	2	IRF5	7	128587532	Missense_Mutation	SNP	C	TCGA-BQ-5891-01A-11D-1589-08		128587532	30551131	12	25419											
SORCS1	114815	hgsc.bcm.edu	37	10	108427534	108427534	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr10:108427534T>C	ENST00000263054.6	-	17	2223	c.2216A>G	c.(2215-2217)aAt>aGt	p.N739S	SORCS1_ENST00000344440.6_Missense_Mutation_p.N739S|SORCS1_ENST00000369698.1_Missense_Mutation_p.N274S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	739					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCACTGGCCATTGCTGTGTCG	0.458																																																0													69	62	65					10																	108427534		2203	4300	6503	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2216A>G	chr10.hg19:g.108427534T>C	ENSP00000263054:p.Asn739Ser		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	hg19	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	T	7.105	0.574795	0.13623	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.23348	1.91;2.47;2.47	5.49	4.33	0.51752	VPS10 (1);	0.111999	0.64402	N	0.000012	T	0.12433	0.0302	N	0.05031	-0.125	0.39169	D	0.962557	B;B;B;B;B	0.25206	0.073;0.054;0.12;0.073;0.007	B;B;B;B;B	0.25506	0.028;0.061;0.061;0.028;0.02	T	0.13548	-1.0505	9	.	.	.	-18.7721	11.8351	0.52319	0.0:0.0698:0.0:0.9302	.	739;739;739;739;739	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	S	274;739;739	ENSP00000358712:N274S;ENSP00000263054:N739S;ENSP00000345964:N739S	.	N	-	2	0	SORCS1	108417524	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.928000	0.56506	0.982000	0.38575	0.379000	0.24179	AAT		0.458	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		C	108427534	T	C	108427534	3	2	467	1	0	0	0	0	1	0	0	0	14936	1493	52	3	1564	3	SORCS1	10	108427534	Missense_Mutation	SNP	T	TCGA-BQ-5891-01A-11D-1589-08		108427534	27107213	13	25420											
OR52J3	119679	hgsc.bcm.edu	37	11	5068288	5068288	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr11:5068288A>T	ENST00000380370.1	+	1	533	c.533A>T	c.(532-534)cAt>cTt	p.H178L		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	178						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(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAATAGCCCATTCCTACTGT	0.418																																																0													191	162	172					11																	5068288		2201	4298	6499	SO:0001583	missense	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.533A>T	chr11.hg19:g.5068288A>T	ENSP00000369728:p.His178Leu		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	hg19	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387131	0.61956	.	.	ENSG00000205495	ENST00000380370	T	0.00183	8.6	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000183	T	0.01061	0.0035	H	0.98769	4.325	0.37287	D	0.908099	D	0.89917	1.0	D	0.97110	1.0	T	0.13019	-1.0525	10	0.87932	D	0	.	11.9816	0.53123	1.0:0.0:0.0:0.0	.	178	Q8NH60	O52J3_HUMAN	L	178	ENSP00000369728:H178L	ENSP00000369728:H178L	H	+	2	0	OR52J3	5024864	0.235000	0.23794	0.989000	0.46669	0.817000	0.46193	3.921000	0.56454	1.742000	0.51746	0.533000	0.62120	CAT		0.418	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		T	5068288	A	T	5068288	3	4	467	1	0	0	0	0	1	0	0	0	11124	217	8	5	535	5	OR52J3	11	5068288	Missense_Mutation	SNP	A	TCGA-BQ-5891-01A-11D-1589-08		5068288	129938228	14	25421											
IL10RA	3587	hgsc.bcm.edu	37	11	117866403	117866403	+	Missense_Mutation	SNP	G	G	A	rs145975996		TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr11:117866403G>A	ENST00000227752.3	+	6	908	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.R114Q|IL10RA_ENST00000541785.1_Missense_Mutation_p.R243Q	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	263					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GTGCGGCGCCGAAAGAAGCTA	0.602																																																0								G	GLN/ARG	0,4400		0,0,2200	96	76	83		788	-1.2	0	11	dbSNP_134	83	2,8590	2.2+/-6.3	0,2,4294	yes	missense	IL10RA	NM_001558.3	43	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	263/579	117866403	2,12990	2200	4296	6496	SO:0001583	missense	3587			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.788G>A	chr11.hg19:g.117866403G>A	ENSP00000227752:p.Arg263Gln		A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	hg19	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066789	0.55539	0.0	2.33E-4	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.56941	0.43;0.43;1.15	5.16	-1.2	0.09554	.	0.427526	0.16007	N	0.233988	T	0.52757	0.1754	M	0.63428	1.95	0.09310	N	1	D;D	0.69078	0.997;0.995	P;P	0.51945	0.685;0.639	T	0.47420	-0.9119	10	0.45353	T	0.12	-4.5989	7.1947	0.25845	0.1825:0.5157:0.3019:0.0	.	243;263	F5GYV8;Q13651	.;I10R1_HUMAN	Q	263;243;114;243	ENSP00000227752:R263Q;ENSP00000441397:R243Q;ENSP00000443019:R114Q	ENSP00000227752:R263Q	R	+	2	0	IL10RA	117371613	0.000000	0.05858	0.024000	0.17045	0.667000	0.39255	-0.002000	0.12924	0.003000	0.14656	0.563000	0.77884	CGA		0.602	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			A	117866403	G	A	117866403	3	1	467	1	0	0	0	0	1	0	0	0	7622	1058	37	1	810	1	IL10RA	11	117866403	Missense_Mutation	SNP	G	TCGA-BQ-5891-01A-11D-1589-08	112798115	117866403	17140113	15	25422											
ARHGAP9	64333	hgsc.bcm.edu	37	12	57869643	57869643	+	Silent	SNP	G	G	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr12:57869643G>T	ENST00000356411.2	-	10	1422	c.1284C>A	c.(1282-1284)cgC>cgA	p.R428R	ARHGAP9_ENST00000393797.2_Silent_p.R499R|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000550288.1_Silent_p.R507R|ARHGAP9_ENST00000393791.3_Silent_p.R428R|ARHGAP9_ENST00000424809.2_Silent_p.R428R|ARHGAP9_ENST00000430041.2_Silent_p.R244R			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	428	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCGCAGCGCGCGGTGCCAGG	0.672																																																0													26	29	28					12																	57869643		2202	4297	6499	SO:0001819	synonymous_variant	64333			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1284C>A	chr12.hg19:g.57869643G>T			B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	hg19																																																																																					0.672	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		T	57869643	G	T	57869643	2	4	467	1	0	0	0	0	0	0	0	1	889	1074	38	4		4	ARHGAP9	12	57869643	Silent	SNP	G	TCGA-BQ-5891-01A-11D-1589-08		57869643	75982252	16	25423											
EFHA1	221154	hgsc.bcm.edu	37	13	22088516	22088516	+	Silent	SNP	C	C	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr13:22088516C>T	ENST00000382374.4	-	7	704	c.639G>A	c.(637-639)gtG>gtA	p.V213V		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	213					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CATTAGTTTTCACTGTCATCA	0.318																																																0													184	177	179					13																	22088516		2202	4300	6502	SO:0001819	synonymous_variant	221154			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.639G>A	chr13.hg19:g.22088516C>T			Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	hg19	CCDS9297.1																																																																																				0.318	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		T	22088516	C	T	22088516	2	4	467	1	0	0	0	0	0	0	0	1	4945	813	29	2		2	EFHA1	13	22088516	Silent	SNP	C	TCGA-BQ-5891-01A-11D-1589-08		22088516	93081362	17	25424											
KL	9365	hgsc.bcm.edu	37	13	33591076	33591076	+	Silent	SNP	C	C	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr13:33591076C>T	ENST00000380099.3	+	1	506	c.498C>T	c.(496-498)aaC>aaT	p.N166N	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	166	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCGTCCCCAACCGCGAGGGGC	0.726																																																0													11	11	11					13																	33591076		2131	4184	6315	SO:0001819	synonymous_variant	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.498C>T	chr13.hg19:g.33591076C>T			Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	hg19	CCDS9347.1																																																																																				0.726	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			T	33591076	C	T	33591076	2	4	467	1	0	0	0	0	0	0	0	1	8333	506	18	2		2	KL	13	33591076	Silent	SNP	C	TCGA-BQ-5891-01A-11D-1589-08	11502560	33591076	81578802	18	25425											
RANBP10	57610	hgsc.bcm.edu	37	16	67840335	67840335	+	Silent	SNP	C	C	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr16:67840335C>T	ENST00000317506.3	-	1	220	c.105G>A	c.(103-105)ctG>ctA	p.L35L	RANBP10_ENST00000602677.1_Silent_p.L35L|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000425512.2_5'UTR|RANBP10_ENST00000448631.2_Silent_p.L35L|TSNAXIP1_ENST00000561639.1_5'Flank|TSNAXIP1_ENST00000415766.3_5'Flank|TSNAXIP1_ENST00000388833.3_5'Flank|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000411657.2_5'UTR	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	35	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCGCCGGCTCAGCTCCTGCT	0.701																																																0													14	15	15					16																	67840335		2183	4253	6436	SO:0001819	synonymous_variant	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.105G>A	chr16.hg19:g.67840335C>T			A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Silent	SNP	ENST00000317506.3	hg19	CCDS32469.1																																																																																				0.701	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		T	67840335	C	T	67840335	2	4	467	1	0	0	0	0	0	0	0	1	13032	813	29	2		2	RANBP10	16	67840335	Silent	SNP	C	TCGA-BQ-5891-01A-11D-1589-08		67840335	22514418	19	25426											
AKAP10	11216	hgsc.bcm.edu	37	17	19861611	19861611	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr17:19861611A>G	ENST00000225737.6	-	4	750	c.593T>C	c.(592-594)tTt>tCt	p.F198S	AKAP10_ENST00000572155.1_5'Flank|AKAP10_ENST00000395536.3_Missense_Mutation_p.F198S	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	198	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ATCAGTTAAAAAAGACGCTGT	0.418																																																0													65	65	65					17																	19861611		2203	4300	6503	SO:0001583	missense	11216			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.593T>C	chr17.hg19:g.19861611A>G	ENSP00000225737:p.Phe198Ser		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	hg19	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	A	5.074	0.199347	0.09652	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.17054	2.3	5.98	3.72	0.42706	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.607188	0.19356	N	0.116264	T	0.05914	0.0154	N	0.03115	-0.41	0.24009	N	0.996183	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.42068	-0.9473	10	0.06236	T	0.91	-3.1154	7.7403	0.28837	0.6869:0.0:0.3131:0.0	.	198;198;198	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	S	198	ENSP00000225737:F198S	ENSP00000225737:F198S	F	-	2	0	AKAP10	19802203	1.000000	0.71417	0.995000	0.50966	0.345000	0.29048	1.891000	0.39738	0.471000	0.27319	0.482000	0.46254	TTT		0.418	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		G	19861611	A	G	19861611	3	3	467	1	0	0	0	0	1	0	0	0	446	14	1	3	1443	3	AKAP10	17	19861611	Missense_Mutation	SNP	A	TCGA-BQ-5891-01A-11D-1589-08		19861611	61333599	20	25427											
MUC16	94025	hgsc.bcm.edu	37	19	9065718	9065718	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr19:9065718G>T	ENST00000397910.4	-	3	21931	c.21728C>A	c.(21727-21729)tCc>tAc	p.S7243Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7245	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGCTCAGGGAGGAAATTGA	0.468																																																0													169	161	164					19																	9065718		1979	4157	6136	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21728C>A	chr19.hg19:g.9065718G>T	ENSP00000381008:p.Ser7243Tyr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.932	-0.016036	0.07681	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.75	-0.661	0.11417	.	.	.	.	.	T	0.06962	0.0177	L	0.42245	1.32	.	.	.	D	0.65815	0.995	D	0.68943	0.961	T	0.29274	-1.0017	8	0.87932	D	0	.	5.0419	0.14463	0.4634:0.0:0.5366:0.0	.	7243	B5ME49	.	Y	7243	ENSP00000381008:S7243Y	ENSP00000381008:S7243Y	S	-	2	0	MUC16	8926718	0.015000	0.18098	0.000000	0.03702	0.007000	0.05969	2.004000	0.40854	-0.046000	0.13446	0.195000	0.17529	TCC		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9065718	G	T	9065718	3	4	467	1	0	0	0	0	1	0	0	0	9975	1174	41	4	22123	4	MUC16	19	9065718	Missense_Mutation	SNP	G	TCGA-BQ-5891-01A-11D-1589-08		9065718	50063265	21	25428											
ZNF761	388561	hgsc.bcm.edu	37	19	53958709	53958709	+	RNA	SNP	T	T	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr19:53958709T>A	ENST00000454407.1	+	0	1401							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TTGAAAGACATAGGATAATTC	0.383																																																0													83	85	85					19																	53958709		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		chr19.hg19:g.53958709T>A			Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	hg19																																																																																					0.383	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		A	53958709	T	A	53958709	1	1	467	0	1	0	0	0	0	0	0	0	18141	1403	49	5		5	ZNF761	19	53958709	RNA	SNP	T	TCGA-BQ-5891-01A-11D-1589-08	44892991	53958709	5170274	22	25429	195	2									
ZNF761	388561	hgsc.bcm.edu	37	19	53958711	53958711	+	RNA	SNP	G	G	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr19:53958711G>A	ENST00000454407.1	+	0	1403							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAAAGACATAGGATAATTCAT	0.383																																																0													84	85	85					19																	53958711		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		chr19.hg19:g.53958711G>A			Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	hg19																																																																																					0.383	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		A	53958711	G	A	53958711	1	1	467	0	1	0	0	0	0	0	0	0	18141	1000	35	2		2	ZNF761	19	53958711	RNA	SNP	G	TCGA-BQ-5891-01A-11D-1589-08	2	53958711	5170272	23	25430	195	2									
GGTLC1	92086	hgsc.bcm.edu	37	20	23967129	23967129	+	Silent	SNP	C	C	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr20:23967129C>T	ENST00000335694.4	-	2	324	c.120G>A	c.(118-120)ctG>ctA	p.L40L	GGTLC1_ENST00000286890.4_Silent_p.L40L|GGTLC1_ENST00000278765.4_Silent_p.L40L	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	40					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGACCACAGACAGGTGAGCAG	0.647																																																0													51	45	47					20																	23967129		2203	4300	6503	SO:0001819	synonymous_variant	92086			AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"Gamma-glutamyltransferases"	16437	protein-coding gene	gene with protein product		612338	"gamma-glutamyltransferase-like activity 4", "gamma-glutamyltransferase-like activity 3"	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.120G>A	chr20.hg19:g.23967129C>T			D3DW43|Q08246	Silent	SNP	ENST00000335694.4	hg19	CCDS13163.1																																																																																				0.647	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		T	23967129	C	T	23967129	2	4	467	1	0	0	0	0	0	0	0	1	6367	465	17	2		2	GGTLC1	20	23967129	Silent	SNP	C	TCGA-BQ-5891-01A-11D-1589-08		23967129	39058391	24	25431											
TMPRSS15	5651	hgsc.bcm.edu	37	21	19685347	19685347	+	Silent	SNP	T	T	G	rs111276490		TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr21:19685347T>G	ENST00000284885.3	-	18	2113	c.2080A>C	c.(2080-2082)Aga>Cga	p.R694R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	694	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTCTGGATTCTGAACCGCACT	0.443																																																0													149	133	138					21																	19685347		2203	4300	6503	SO:0001819	synonymous_variant	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2080A>C	chr21.hg19:g.19685347T>G			Q2NKL7	Silent	SNP	ENST00000284885.3	hg19	CCDS13571.1																																																																																				0.443	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		G	19685347	T	G	19685347	2	3	467	1	0	0	0	0	0	0	0	1	16251	1588	55	5		5	TMPRSS15	21	19685347	Silent	SNP	T	TCGA-BQ-5891-01A-11D-1589-08		19685347	28444548	25	25432											
CCDC116	164592	hgsc.bcm.edu	37	22	21989095	21989095	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr22:21989095C>G	ENST00000292779.3	+	4	904	c.743C>G	c.(742-744)tCa>tGa	p.S248*	CCDC116_ENST00000607942.1_Nonsense_Mutation_p.S248*	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	248										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTGCTGGGCTCAAGCTCTGGC	0.577																																																0													85	90	88					22																	21989095		2203	4300	6503	SO:0001587	stop_gained	164592			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.743C>G	chr22.hg19:g.21989095C>G	ENSP00000292779:p.Ser248*		Q8N9Y9	Nonsense_Mutation	SNP	ENST00000292779.3	hg19	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687235	0.68157	.	.	ENSG00000161180	ENST00000292779	.	.	.	4.56	4.56	0.56223	.	0.269330	0.27035	N	0.021260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-55.3163	13.0826	0.59121	0.0:1.0:0.0:0.0	.	.	.	.	X	248	.	ENSP00000292779:S248X	S	+	2	0	CCDC116	20319095	0.644000	0.27277	0.178000	0.23040	0.062000	0.15995	3.279000	0.51670	2.554000	0.86153	0.485000	0.47835	TCA		0.577	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		G	21989095	C	G	21989095	4	3	467	1	0	0	0	0	0	1	0	0	2755	838	29	4	753	4	CCDC116	22	21989095	Nonsense_Mutation	SNP	C	TCGA-BQ-5891-01A-11D-1589-08		21989095	29315471	26	25433											
RCAN3	11123	hgsc.bcm.edu	37	1	24840967	24840967	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:24840967delT	ENST00000374395.4	+	2	418	c.105delT	c.(103-105)gatfs	p.D35fs	RCAN3_ENST00000436717.2_Frame_Shift_Del_p.D35fs|RCAN3_ENST00000538532.1_Frame_Shift_Del_p.D35fs|RCAN3_ENST00000374393.2_Frame_Shift_Del_p.D35fs|RCAN3_ENST00000412742.2_Frame_Shift_Del_p.D35fs	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	35					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		ATGAAGATGATTTGGATGAGA	0.433																																																0													206	186	193					1																	24840967		2203	4300	6503	SO:0001589	frameshift_variant	11123				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.105delT	chr1.hg19:g.24840967delT	ENSP00000363516:p.Asp35fs		A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Frame_Shift_Del	DEL	ENST00000374395.4	hg19	CCDS254.1																																																																																				0.433	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			-	24840967	T	-	24840967	7	5	468	1	0	1	0	1	0	0	0	0	13176	1490	52	0	107	0	RCAN3	1	24840967	Frame_Shift_Del	DEL	T	TCGA-BQ-5892-01A-11D-1589-08		24840967	224409654	1	25434											
SFRS4	6429	hgsc.bcm.edu	37	1	29475685	29475685	+	Missense_Mutation	SNP	C	C	T	rs368357249		TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:29475685C>T	ENST00000373795.4	-	6	956	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	SRSF4_ENST00000546138.1_Silent_p.P139P|SRSF4_ENST00000466448.1_5'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	241	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TTTCTTgctccggctccgact	0.592																																																0								C	GLN/ARG	2,4398		0,2,2198	50	60	57		722	5.8	1	1		57	0,8596		0,0,4298	no	missense	SRSF4	NM_005626.4	43	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	241/495	29475685	2,12994	2200	4298	6498	SO:0001583	missense	6429			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	protein-coding gene	gene with protein product	"SR splicing factor 4"	601940	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.722G>A	chr1.hg19:g.29475685C>T	ENSP00000362900:p.Arg241Gln		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	hg19	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131145	0.56828	4.55E-4	0.0	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.38401	1.14	5.77	5.77	0.91146	.	0.201011	0.34932	N	0.003572	T	0.35189	0.0923	L	0.52573	1.65	0.80722	D	1	D	0.61080	0.989	B	0.42087	0.375	T	0.19778	-1.0295	10	0.59425	D	0.04	.	13.8822	0.63688	0.1522:0.8478:0.0:0.0	.	241	Q08170	SRSF4_HUMAN	Q	241	ENSP00000362900:R241Q	ENSP00000362900:R241Q	R	-	2	0	SRSF4	29348272	0.993000	0.37304	0.999000	0.59377	0.988000	0.76386	3.219000	0.51200	2.723000	0.93209	0.655000	0.94253	CGG		0.592	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		T	29475685	C	T	29475685	3	4	468	1	0	0	0	0	1	0	0	0	14185	652	23	1	766	1	SFRS4	1	29475685	Missense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	4634718	29475685	219774936	2	25435											
ZNF691	51058	hgsc.bcm.edu	37	1	43317094	43317094	+	Silent	SNP	C	C	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:43317094C>A	ENST00000372506.1	+	4	805	c.465C>A	c.(463-465)ctC>ctA	p.L155L	ZNF691_ENST00000372502.1_Silent_p.L177L|ZNF691_ENST00000397044.3_Silent_p.L186L|ZNF691_ENST00000372504.1_Silent_p.L177L|ZNF691_ENST00000372508.3_Silent_p.L155L|ZNF691_ENST00000372507.1_Silent_p.L155L	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	186						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTCAGACCTCACCACGCACC	0.597																																																0													61	56	58					1																	43317094		2203	4300	6503	SO:0001819	synonymous_variant	51058				CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"Zinc fingers, C2H2-type"	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.465C>A	chr1.hg19:g.43317094C>A			A8MXP6|B4DJR7|O95878|Q9NWE8	Silent	SNP	ENST00000372506.1	hg19	CCDS476.1																																																																																				0.597	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020192.1	NM_015911		A	43317094	C	A	43317094	2	1	468	1	0	0	0	0	0	0	0	1	18101	813	29	4		4	ZNF691	1	43317094	Silent	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	13841409	43317094	205933527	3	25436											
CACHD1	57685	hgsc.bcm.edu	37	1	65143946	65143946	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:65143946G>A	ENST00000371073.2	+	23	3197	c.3197G>A	c.(3196-3198)gGg>gAg	p.G1066E	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.G1015E			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1066					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCTTCGGGGGGATTGTGGGA	0.473																																																0													94	95	95					1																	65143946		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3197G>A	chr1.hg19:g.65143946G>A	ENSP00000360113:p.Gly1066Glu		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	hg19		.	.	.	.	.	.	.	.	.	.	G	33	5.284715	0.95517	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.58210	0.35;0.4	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66056	-0.6018	10	0.87932	D	0	-25.7352	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1066	Q5VU97	CAHD1_HUMAN	E	1066;1015	ENSP00000360113:G1066E;ENSP00000290039:G1015E	ENSP00000290039:G1015E	G	+	2	0	CACHD1	64916534	1.000000	0.71417	0.941000	0.38009	0.996000	0.88848	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGG		0.473	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		A	65143946	G	A	65143946	3	1	468	1	0	0	0	0	1	0	0	0	2539	1232	43	2	3134	2	CACHD1	1	65143946	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08	21826852	65143946	184106675	4	25437											
FMO1	2326	hgsc.bcm.edu	37	1	171247924	171247924	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:171247924A>T	ENST00000354841.4	+	4	672	c.541A>T	c.(541-543)Ata>Tta	p.I181L	FMO1_ENST00000402921.2_Missense_Mutation_p.I118L|FMO1_ENST00000367750.3_Missense_Mutation_p.I181L|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	181					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GCATCCAGATATATTTAAGGA	0.418																																																0													74	77	76					1																	171247924		2203	4300	6503	SO:0001583	missense	2326			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.541A>T	chr1.hg19:g.171247924A>T	ENSP00000346901:p.Ile181Leu		A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	hg19	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.131021	0.37630	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.66	1.85	0.25348	.	0.462268	0.24947	N	0.034331	T	0.13243	0.0321	N	0.20610	0.595	0.09310	N	0.999994	B;B;B	0.13145	0.007;0.001;0.002	B;B;B	0.16289	0.015;0.001;0.01	T	0.21621	-1.0240	10	0.31617	T	0.26	-0.8266	5.0708	0.14606	0.5496:0.1475:0.3029:0.0	.	118;181;181	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	L	181;181;118;181	ENSP00000356724:I181L;ENSP00000406982:I181L;ENSP00000385543:I118L;ENSP00000346901:I181L	ENSP00000346901:I181L	I	+	1	0	FMO1	169514548	0.000000	0.05858	0.998000	0.56505	0.998000	0.95712	0.351000	0.20096	0.401000	0.25424	0.460000	0.39030	ATA		0.418	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		T	171247924	A	T	171247924	3	4	468	1	0	0	0	0	1	0	0	0	5956	449	16	5	555	5	FMO1	1	171247924	Missense_Mutation	SNP	A	TCGA-BQ-5892-01A-11D-1589-08	106103978	171247924	78002697	5	25438											
C1orf9	51430	hgsc.bcm.edu	37	1	172558217	172558217	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:172558217T>G	ENST00000263688.3	+	18	2195	c.1976T>G	c.(1975-1977)cTt>cGt	p.L659R	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000367723.4_Missense_Mutation_p.L810R|SUCO_ENST00000608151.1_Missense_Mutation_p.L811R	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	659					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AAAGATTATCTTGTGTTAGCT	0.383																																																0													79	81	81					1																	172558217		2203	4299	6502	SO:0001583	missense	51430			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1976T>G	chr1.hg19:g.172558217T>G	ENSP00000263688:p.Leu659Arg		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	hg19	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	T	3.471	-0.108011	0.06924	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	4.95	2.51	0.30379	.	0.913904	0.09394	N	0.808213	T	0.11324	0.0276	L	0.43152	1.355	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.28170	-1.0052	9	0.18276	T	0.48	-0.0114	2.1827	0.03879	0.4718:0.1619:0.0:0.3663	.	659;811;659	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	R	811;659	.	ENSP00000263688:L659R	L	+	2	0	C1orf9	170824840	0.000000	0.05858	0.002000	0.10522	0.610000	0.37248	-0.219000	0.09228	0.693000	0.31634	0.460000	0.39030	CTT		0.383	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		G	172558217	T	G	172558217	3	3	468	1	0	0	0	0	1	0	0	0	2069	1609	56	5	2046	5	C1orf9	1	172558217	Missense_Mutation	SNP	T	TCGA-BQ-5892-01A-11D-1589-08	1310293	172558217	76692404	6	25439											
TMEM81	388730	hgsc.bcm.edu	37	1	205053045	205053045	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:205053045A>C	ENST00000367167.3	-	1	600	c.404T>G	c.(403-405)tTc>tGc	p.F135C		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	135	Ig-like.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			AAAGGGTTTGAAGACCTCATC	0.468																																																0													87	92	90					1																	205053045		2203	4300	6503	SO:0001583	missense	388730			BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.404T>G	chr1.hg19:g.205053045A>C	ENSP00000356135:p.Phe135Cys		Q6UVZ4	Missense_Mutation	SNP	ENST00000367167.3	hg19	CCDS1450.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.853325	0.51270	.	.	ENSG00000174529	ENST00000367167	T	0.42900	0.96	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64216	0.2578	M	0.72894	2.215	0.47245	D	0.999365	D	0.89917	1.0	D	0.91635	0.999	T	0.67562	-0.5639	10	0.87932	D	0	-6.5281	14.6242	0.68608	1.0:0.0:0.0:0.0	.	135	Q6P7N7	TMM81_HUMAN	C	135	ENSP00000356135:F135C	ENSP00000356135:F135C	F	-	2	0	TMEM81	203319668	1.000000	0.71417	0.999000	0.59377	0.171000	0.22731	5.953000	0.70290	2.281000	0.76405	0.533000	0.62120	TTC		0.468	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		C	205053045	A	C	205053045	3	2	468	1	0	0	0	0	1	0	0	0	16210	246	9	5	367	5	TMEM81	1	205053045	Missense_Mutation	SNP	A	TCGA-BQ-5892-01A-11D-1589-08	32494828	205053045	44197576	7	25440											
NT5C1B	93034	hgsc.bcm.edu	37	2	18767651	18767651	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr2:18767651G>C	ENST00000359846.2	-	4	384	c.307C>G	c.(307-309)Caa>Gaa	p.Q103E	NT5C1B_ENST00000304081.4_Missense_Mutation_p.Q43E|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Missense_Mutation_p.Q103E|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.Q103E	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	103	Ser-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GATGATTCTTGTGATCCCTGT	0.488																																																0													97	86	89					2																	18767651		2203	4300	6503	SO:0001583	missense	93034			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.307C>G	chr2.hg19:g.18767651G>C	ENSP00000352904:p.Gln103Glu		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	hg19	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655456	0.29425	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.91124	-2.79	4.79	4.79	0.61399	.	0.287423	0.25604	N	0.029528	D	0.84723	0.5535	L	0.29908	0.895	0.26210	N	0.979313	B;B;B;P;B;B;B;B	0.35745	0.366;0.366;0.278;0.518;0.39;0.264;0.209;0.313	B;B;B;B;B;B;B;B	0.35931	0.156;0.156;0.079;0.156;0.068;0.164;0.106;0.214	T	0.77930	-0.2403	10	0.37606	T	0.19	-30.2005	13.6483	0.62294	0.0:0.0:1.0:0.0	.	86;120;43;86;43;43;103;103	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	E	103;43;43;103;120	ENSP00000412639:Q43E	ENSP00000305979:Q43E	Q	-	1	0	NT5C1B-RDH14;NT5C1B	18631132	0.991000	0.36638	0.985000	0.45067	0.092000	0.18411	2.396000	0.44468	2.941000	0.99782	0.655000	0.94253	CAA		0.488	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			C	18767651	G	C	18767651	3	2	468	1	0	0	0	0	1	0	0	0	10688	1386	48	4	1553	4	NT5C1B	2	18767651	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08		18767651	224431722	8	25441											
GPR155	151556	hgsc.bcm.edu	37	2	175346653	175346657	+	Frame_Shift_Del	DEL	GTTAA	GTTAA	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	GTTAA	GTTAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr2:175346653_175346657delGTTAA	ENST00000392552.2	-	2	266_270	c.28_32delTTAAC	c.(28-33)ttaaccfs	p.LT10fs	GPR155_ENST00000295500.4_Frame_Shift_Del_p.LT10fs|GPR155_ENST00000392551.2_Frame_Shift_Del_p.LT10fs	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	10					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GACTGCAATGGTTAAGTTCTCTGCA	0.4																																																0																																										SO:0001589	frameshift_variant	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.28_32delTTAAC	chr2.hg19:g.175346653_175346657delGTTAA	ENSP00000376335:p.Leu10fs		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Frame_Shift_Del	DEL	ENST00000392552.2	hg19	CCDS2259.1																																																																																				0.4	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		-	175346657	GTTAA	-	175346653	7	5	468	1	0	1	0	1	0	0	0	0	6662	1261	44	0	2640	0	GPR155	2	175346653	Frame_Shift_Del	DEL	GTTAA	TCGA-BQ-5892-01A-11D-1589-08	156579002	175346653	67852720	9	25442											
CPO	130749	hgsc.bcm.edu	37	2	207827299	207827299	+	Silent	SNP	C	C	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr2:207827299C>T	ENST00000272852.3	+	7	784	c.738C>T	c.(736-738)taC>taT	p.Y246Y		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	246						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TCACACCTTACGGCTACACCA	0.448																																																0													170	160	164					2																	207827299		2203	4300	6503	SO:0001819	synonymous_variant	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.738C>T	chr2.hg19:g.207827299C>T			Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	hg19	CCDS2372.1																																																																																				0.448	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		T	207827299	C	T	207827299	2	4	468	1	0	0	0	0	0	0	0	1	3822	547	19	1		1	CPO	2	207827299	Silent	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	32480646	207827299	35372074	10	25443											
VHL	7428	hgsc.bcm.edu	37	3	10191506	10191506	+	Missense_Mutation	SNP	C	C	G	rs5030820		TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr3:10191506C>G	ENST00000256474.2	+	3	1339	c.499C>G	c.(499-501)Cgg>Ggg	p.R167G	VHL_ENST00000345392.2_Missense_Mutation_p.R126G|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	167			R -> G (in VHLD; type I-II). {ECO:0000269|PubMed:9829911}.|R -> Q (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030821). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|R -> W (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030820). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8592333, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R167W(8)|p.R167G(2)|p.R167fs*1(1)|p.V166fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCAGGTTGTCCGGAGCCTAGT	0.512		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Substitution - Missense(10)|Deletion - Frameshift(1)|Insertion - Frameshift(1)	kidney(8)|adrenal_gland(2)|large_intestine(1)|endometrium(1)	GRCh37	CM941383|CM941384|HX040002	VHL	M|X	rs5030820						92	84	87					3																	10191506		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.499C>G	chr3.hg19:g.10191506C>G	ENSP00000256474:p.Arg167Gly		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	hg19	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548531	0.65311	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99830	-7.01;-7.01	4.86	3.97	0.46021	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	M	0.68952	2.095	0.42468	D	0.992812	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97794	1.0240	10	0.54805	T	0.06	-6.8035	10.4067	0.44260	0.3559:0.6441:0.0:0.0	.	126;167	P40337-2;P40337	.;VHL_HUMAN	G	167;126;85	ENSP00000256474:R167G;ENSP00000344757:R126G	ENSP00000256474:R167G	R	+	1	2	VHL	10166506	0.999000	0.42202	0.908000	0.35775	0.831000	0.47069	2.914000	0.48797	1.375000	0.46248	0.655000	0.94253	CGG		0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10191506	C	G	10191506	3	3	468	1	0	0	0	0	1	0	0	0	17167	643	23	4	509	4	VHL	3	10191506	Missense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08		10191506	187830924	11	25444											
BAP1	51533	hgsc.bcm.edu	37	3	52443866	52443866	+	5'Flank	SNP	C	C	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr3:52443866C>T	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Missense_Mutation_p.S10N|PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000296288.5_Missense_Mutation_p.S10N	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.S10T(1)|p.E7_S10delELES(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACCTGGGTCGCTCTCCAGCTC	0.746																																																2	Substitution - Missense(1)|Deletion - In frame(1)	kidney(2)											24	30	28					3																	52443866		2203	4298	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		chr3.hg19:g.52443866C>T	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	hg19	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450733	0.96205	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61627	0.09;0.09	4.93	4.93	0.64822	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.000000	0.85682	D	0.000000	T	0.79131	0.4394	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83154	-0.0102	10	0.66056	D	0.02	-4.1481	15.9287	0.79644	0.0:1.0:0.0:0.0	.	10	Q92560	BAP1_HUMAN	N	10	ENSP00000417132:S10N;ENSP00000296288:S10N	ENSP00000296288:S10N	S	-	2	0	BAP1	52418906	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.832000	0.62759	2.289000	0.77006	0.561000	0.74099	AGC		0.746	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		T	52443866	C	T	52443866	1	4	468	0	1	0	0	0	0	0	0	0	1311	797	28	2		2	BAP1	3	52443866	5'Flank	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	42252360	52443866	145578564	12	25445											
HAUS3	79441	hgsc.bcm.edu	37	4	2242534	2242534	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr4:2242534A>C	ENST00000243706.4	-	2	369	c.140T>G	c.(139-141)gTg>gGg	p.V47G	POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.V47G|HAUS3_ENST00000443786.2_Missense_Mutation_p.V47G	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	47					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGTTCATTCACATTCCCACA	0.413																																																0													121	110	114					4																	2242534		2203	4300	6503	SO:0001583	missense	79441			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.140T>G	chr4.hg19:g.2242534A>C	ENSP00000243706:p.Val47Gly		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	hg19	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101593	0.76983	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.59638	0.25;0.25	4.68	4.68	0.58851	.	0.084524	0.49305	U	0.000154	T	0.70596	0.3242	M	0.78049	2.395	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.62089	0.898;0.898	T	0.74222	-0.3735	10	0.87932	D	0	-17.236	8.3587	0.32346	0.9107:0.0:0.0893:0.0	.	47;47	B4DF64;Q68CZ6	.;HAUS3_HUMAN	G	47	ENSP00000243706:V47G;ENSP00000392903:V47G	ENSP00000243706:V47G	V	-	2	0	HAUS3	2212332	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.993000	0.70616	1.850000	0.53721	0.459000	0.35465	GTG		0.413	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		C	2242534	A	C	2242534	3	2	468	1	0	0	0	0	1	0	0	0	6969	159	6	5	1687	5	HAUS3	4	2242534	Missense_Mutation	SNP	A	TCGA-BQ-5892-01A-11D-1589-08		2242534	188911742	13	25446											
TMPRSS11A	339967	hgsc.bcm.edu	37	4	68777129	68777129	+	Silent	SNP	C	C	T	rs376494815		TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr4:68777129C>T	ENST00000334830.7	-	10	1943	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Silent_p.K395K|TMPRSS11A_ENST00000396188.2_Silent_p.K396K			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	399	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CAGGCTTGTCCTTTTGACCAC	0.403																																					NSCLC(26;2 894 10941 14480 22546)											0								C	,	0,4406		0,0,2203	181	170	174		1188,1197	3.8	1	4		174	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMPRSS11A	NM_001114387.1,NM_182606.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	396/419,399/422	68777129	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1197G>A	chr4.hg19:g.68777129C>T			J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Silent	SNP	ENST00000334830.7	hg19	CCDS3519.1																																																																																				0.403	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		T	68777129	C	T	68777129	2	4	468	1	0	0	0	0	0	0	0	1	16244	680	24	2		2	TMPRSS11A	4	68777129	Silent	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	66534595	68777129	122377147	14	25447											
ALPK1	80216	hgsc.bcm.edu	37	4	113333046	113333046	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr4:113333046G>A	ENST00000458497.1	+	5	619	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	ALPK1_ENST00000505912.1_3'UTR|ALPK1_ENST00000504176.2_Missense_Mutation_p.V36M|ALPK1_ENST00000177648.9_Missense_Mutation_p.V114M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	114							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGTGTTCTTGGTGGACCGGTT	0.622																																																0													54	51	52					4																	113333046		2203	4300	6503	SO:0001583	missense	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.340G>A	chr4.hg19:g.113333046G>A	ENSP00000398048:p.Val114Met		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	hg19	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	5.078	0.200114	0.09652	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610;ENST00000504176	T;T;T	0.24151	1.87;1.87;1.87	5.34	-1.67	0.08238	.	0.652897	0.16722	N	0.202210	T	0.05364	0.0142	N	0.00538	-1.39	0.20873	N	0.999835	B;B;B;B	0.18610	0.029;0.023;0.006;0.009	B;B;B;B	0.12837	0.008;0.008;0.005;0.004	T	0.39231	-0.9624	10	0.18276	T	0.48	0.8551	6.1882	0.20510	0.448:0.3512:0.2008:0.0	.	36;89;89;114	F5H138;Q9H623;E7EX13;Q96QP1	.;.;.;ALPK1_HUMAN	M	114;114;89;36	ENSP00000398048:V114M;ENSP00000177648:V114M;ENSP00000426044:V36M	ENSP00000177648:V114M	V	+	1	0	ALPK1	113552495	1.000000	0.71417	0.016000	0.15963	0.097000	0.18754	2.098000	0.41757	-0.525000	0.06391	-0.502000	0.04539	GTG		0.622	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		A	113333046	G	A	113333046	3	1	468	1	0	0	0	0	1	0	0	0	544	1261	44	2	350	2	ALPK1	4	113333046	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08	44555917	113333046	77821230	15	25448											
KIAA1109	84162	hgsc.bcm.edu	37	4	123128292	123128292	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr4:123128292G>C	ENST00000264501.4	+	16	1899	c.1526G>C	c.(1525-1527)aGt>aCt	p.S509T	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S509T|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S509T			Q2LD37	K1109_HUMAN	KIAA1109	509					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCTAGTGACAGTCCTCCAGAC	0.313																																																0													117	112	114					4																	123128292		1798	4073	5871	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1526G>C	chr4.hg19:g.123128292G>C	ENSP00000264501:p.Ser509Thr		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.47|11.47	1.647458|1.647458	0.29246|0.29246	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.23147	.|2.51;2.51;1.92	5.67|5.67	4.81|4.81	0.61882|0.61882	.|.	.|0.580238	.|0.15339	.|N	.|0.267600	T|T	0.38983|0.38983	0.1061|0.1061	L|L	0.33485|0.33485	1.01|1.01	0.42164|0.42164	D|D	0.991613|0.991613	.|D	.|0.58268	.|0.982	.|D	.|0.67548	.|0.952	T|T	0.08848|0.08848	-1.0702|-1.0702	5|10	.|0.45353	.|T	.|0.12	.|.	13.7177|13.7177	0.62708|0.62708	0.0749:0.0:0.9251:0.0|0.0749:0.0:0.9251:0.0	.|.	.|509	.|Q2LD37	.|K1109_HUMAN	H|T	341|509	.|ENSP00000264501:S509T;ENSP00000373390:S509T;ENSP00000389925:S509T	.|ENSP00000264501:S509T	Q|S	+|+	3|2	2|0	KIAA1109|KIAA1109	123347742|123347742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.198000|3.198000	0.51035|0.51035	1.349000|1.349000	0.45751|0.45751	0.655000|0.655000	0.94253|0.94253	CAG|AGT		0.313	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		C	123128292	G	C	123128292	3	2	468	1	0	0	0	0	1	0	0	0	8210	1029	36	4	1580	4	KIAA1109	4	123128292	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08	9795246	123128292	68025984	16	25449											
MGC42105	167359	hgsc.bcm.edu	37	5	43280172	43280172	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr5:43280172A>G	ENST00000512796.1	+	4	2151	c.652A>G	c.(652-654)Agc>Ggc	p.S218G	NIM1_ENST00000326035.2_Missense_Mutation_p.S218G			Q8IY84	NIM1_HUMAN		218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										TTTTGGATTCAGCACAGTAAG	0.433																																																0													93	87	89					5																	43280172		2203	4300	6503	SO:0001583	missense	0																														ENST00000512796.1:c.652A>G	chr5.hg19:g.43280172A>G	ENSP00000420849:p.Ser218Gly		B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	hg19	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.726016	0.89298	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.30448	1.53;1.53	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56062	-0.8041	10	0.33940	T	0.23	.	15.9442	0.79782	1.0:0.0:0.0:0.0	.	218	Q8IY84	NIM1_HUMAN	G	218	ENSP00000313572:S218G;ENSP00000420849:S218G	ENSP00000313572:S218G	S	+	1	0	AC114947.1	43315929	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.166000	0.68216	0.533000	0.62120	AGC		0.433	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			G	43280172	A	G	43280172	3	3	468	1	0	0	0	0	1	0	0	0	9554	188	7	3	662	3	MGC42105	5	43280172	Missense_Mutation	SNP	A	TCGA-BQ-5892-01A-11D-1589-08		43280172	137635088	17	25450											
BDP1	55814	hgsc.bcm.edu	37	5	70800508	70800508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr5:70800508C>T	ENST00000358731.4	+	16	2565	c.2302C>T	c.(2302-2304)Cag>Tag	p.Q768*	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	768					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTCATATTACAGCCTGAGAA	0.328																																																0													94	86	88					5																	70800508		1839	4090	5929	SO:0001587	stop_gained	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2302C>T	chr5.hg19:g.70800508C>T	ENSP00000351575:p.Gln768*		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Nonsense_Mutation	SNP	ENST00000358731.4	hg19	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	38	7.211890	0.98139	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	.	.	.	4.86	1.8	0.24995	.	0.592434	0.16073	N	0.230909	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9453	0.29982	0.165:0.4911:0.3439:0.0	.	.	.	.	X	768;768;348;768	.	ENSP00000351575:Q768X	Q	+	1	0	BDP1	70836264	0.007000	0.16637	0.008000	0.14137	0.007000	0.05969	0.576000	0.23744	0.600000	0.29862	0.603000	0.83216	CAG		0.328	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		T	70800508	C	T	70800508	4	4	468	1	0	0	0	0	0	1	0	0	1395	479	17	2	2364	2	BDP1	5	70800508	Nonsense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	27520336	70800508	110114752	18	25451											
SAR1B	51128	hgsc.bcm.edu	37	5	133956720	133956720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr5:133956720delT	ENST00000402673.2	-	3	359	c.81delA	c.(79-81)aaafs	p.K27fs	SAR1B_ENST00000507419.1_Intron|SAR1B_ENST00000439578.1_Frame_Shift_Del_p.K27fs	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	27					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAATACCAGTTTACCAGTTT	0.343																																																0													179	162	168					5																	133956720		2202	4300	6502	SO:0001589	frameshift_variant	51128			AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"SAR1a gene homolog (S. cerevisiae) 2", "SAR1a gene homolog 2 (S. cerevisiae)", "SAR1 homolog B (S. cerevisiae)"	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.81delA	chr5.hg19:g.133956720delT	ENSP00000385432:p.Lys27fs		D3DQA4|Q567T4	Frame_Shift_Del	DEL	ENST00000402673.2	hg19	CCDS4177.1																																																																																				0.343	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	NM_016103		-	133956720	T	-	133956720	7	5	468	1	0	1	0	1	0	0	0	0	13846	1722	60	0	535	0	SAR1B	5	133956720	Frame_Shift_Del	DEL	T	TCGA-BQ-5892-01A-11D-1589-08	63156212	133956720	46958540	19	25452											
MAML1	9794	hgsc.bcm.edu	37	5	179192969	179192987	+	Frame_Shift_Del	DEL	GGGTCTGCAGGGCAGACCT	GGGTCTGCAGGGCAGACCT	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	GGGTCTGCAGGGCAGACCT	GGGTCTGCAGGGCAGACCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr5:179192969_179192987delGGGTCTGCAGGGCAGACCT	ENST00000292599.3	+	2	1221_1239	c.958_976delGGGTCTGCAGGGCAGACCT	c.(958-978)gggtctgcagggcagacctttfs	p.GSAGQTF320fs	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTGAGGGCCGGGTCTGCAGGGCAGACCTTTCTGGGGCC	0.571																																																0																																										SO:0001589	frameshift_variant	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.958_976delGGGTCTGCAGGGCAGACCT	chr5.hg19:g.179192969_179192987delGGGTCTGCAGGGCAGACCT	ENSP00000292599:p.Gly320fs			Frame_Shift_Del	DEL	ENST00000292599.3	hg19	CCDS34315.1																																																																																				0.571	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		-	179192987	GGGTCTGCAGGGCAGACCT	-	179192969	7	5	468	1	0	1	0	1	0	0	0	0	9207	1116	39	0	964	0	MAML1	5	179192969	Frame_Shift_Del	DEL	GGGTCTGCAGGGCAGACCT	TCGA-BQ-5892-01A-11D-1589-08	45236249	179192969	1722291	20	25453											
PECI	10455	hgsc.bcm.edu	37	6	4128067	4128067	+	Splice_Site	SNP	T	T	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr6:4128067T>A	ENST00000380118.3	-	5	538		c.e5-2		C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000465828.1_Splice_Site|ECI2_ENST00000361538.2_Splice_Site|ECI2_ENST00000413766.2_Splice_Site|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Splice_Site			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2						fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ATGATACATCTGTGTAATGGG	0.398																																																0													116	118	117					6																	4128067		2203	4300	6503	SO:0001630	splice_region_variant	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.502-2A>T	chr6.hg19:g.4128067T>A			Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Splice_Site	SNP	ENST00000380118.3	hg19	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966691	0.34659	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6923	0.69096	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ECI2	4073066	1.000000	0.71417	0.918000	0.36340	0.109000	0.19521	6.484000	0.73621	2.148000	0.66965	0.533000	0.62120	.		0.398	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117	Intron	A	4128067	T	A	4128067	5	1	468	1	0	0	0	0	0	0	1	0	11718	1594	55	5	708	5	PECI	6	4128067	Splice_Site	SNP	T	TCGA-BQ-5892-01A-11D-1589-08		4128067	166987000	21	25454											
SKIV2L	6499	hgsc.bcm.edu	37	6	31937328	31937328	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr6:31937328G>A	ENST00000375394.2	+	28	3690	c.3577G>A	c.(3577-3579)Gag>Aag	p.E1193K	DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375333.2_5'Flank|STK19_ENST00000375331.2_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.E1000K	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1193					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGGGACCCCTGAGGGCCTGGT	0.662																																																0													64	77	72					6																	31937328		1511	2709	4220	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3577G>A	chr6.hg19:g.31937328G>A	ENSP00000364543:p.Glu1193Lys		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	hg19	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946649	0.92593	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.39229	1.09;1.09	5.38	5.38	0.77491	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80353	-0.1418	10	0.87932	D	0	-26.0112	17.9328	0.89004	0.0:0.0:1.0:0.0	.	1193	Q15477	SKIV2_HUMAN	K	1193;1035;1000	ENSP00000364543:E1193K;ENSP00000442645:E1000K	ENSP00000364543:E1193K	E	+	1	0	SKIV2L	32045307	1.000000	0.71417	0.476000	0.27291	0.947000	0.59692	8.247000	0.89830	2.507000	0.84556	0.655000	0.94253	GAG		0.662	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			A	31937328	G	A	31937328	3	1	468	1	0	0	0	0	1	0	0	0	14365	1291	45	2	3687	2	SKIV2L	6	31937328	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08	27809261	31937328	139177739	22	25455											
POM121	9883	hgsc.bcm.edu	37	7	72412459	72412459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr7:72412459delG	ENST00000434423.2	+	11	1927	c.1927delG	c.(1927-1929)gggfs	p.G643fs	POM121_ENST00000446813.1_Frame_Shift_Del_p.G378fs|POM121_ENST00000257622.4_Frame_Shift_Del_p.G378fs|POM121_ENST00000358357.3_Frame_Shift_Del_p.G378fs|POM121_ENST00000395270.1_Frame_Shift_Del_p.G378fs			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	643	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATCACAGTCAGGGCCGCCAGG	0.597																																																0													1	2	2					7																	72412459		806	2133	2939	SO:0001589	frameshift_variant	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1927delG	chr7.hg19:g.72412459delG	ENSP00000405562:p.Gly643fs		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Frame_Shift_Del	DEL	ENST00000434423.2	hg19																																																																																					0.597	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			-	72412459	G	-	72412459	7	5	468	1	0	1	0	1	0	0	0	0	12241	1000	35	0	1170	0	POM121	7	72412459	Frame_Shift_Del	DEL	G	TCGA-BQ-5892-01A-11D-1589-08		72412459	86726204	23	25456											
C7orf51	222950	hgsc.bcm.edu	37	7	100087003	100087003	+	Silent	SNP	C	C	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr7:100087003C>T	ENST00000300179.2	+	4	1818	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A	NYAP1_ENST00000423930.1_Silent_p.A553A|NYAP1_ENST00000454988.1_Silent_p.A496A	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	553					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCTACCCAGCCACAGCAGCTG	0.682																																																0													16	19	18					7																	100087003		2157	4234	6391	SO:0001819	synonymous_variant	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1659C>T	chr7.hg19:g.100087003C>T			Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	hg19	CCDS5696.1																																																																																				0.682	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		T	100087003	C	T	100087003	2	4	468	1	0	0	0	0	0	0	0	1	2402	581	21	2		2	C7orf51	7	100087003	Silent	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	27674544	100087003	59051660	24	25457											
CADPS2	93664	hgsc.bcm.edu	37	7	122130209	122130210	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr7:122130209_122130210insA	ENST00000449022.2	-	11	1796_1797	c.1777_1778insT	c.(1777-1779)tatfs	p.Y593fs	CADPS2_ENST00000476131.1_5'Flank|CADPS2_ENST00000412584.2_Frame_Shift_Ins_p.Y593fs|CADPS2_ENST00000313070.7_Frame_Shift_Ins_p.Y593fs|CADPS2_ENST00000334010.7_Frame_Shift_Ins_p.Y593fs	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	593					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AACTGGTTTATATGATTGACCT	0.376																																																0																																										SO:0001589	frameshift_variant	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1778dupT	chr7.hg19:g.122130210_122130210dupA	ENSP00000398481:p.Tyr593fs		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Frame_Shift_Ins	INS	ENST00000449022.2	hg19	CCDS55158.1																																																																																				0.376	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		A	122130210	-	A	122130209	7	5	468	1	0	1	1	0	0	0	0	0	2573	1406	49	0	2236	0	CADPS2	7	122130209	Frame_Shift_Ins	INS	-	TCGA-BQ-5892-01A-11D-1589-08	22043206	122130209	37008454	25	25458											
KIAA1967	57805	hgsc.bcm.edu	37	8	22473664	22473664	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr8:22473664C>T	ENST00000308511.4	+	14	1997	c.1748C>T	c.(1747-1749)gCc>gTc	p.A583V	CCAR2_ENST00000389279.3_Missense_Mutation_p.A583V|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Missense_Mutation_p.A258V			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	583					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										AAGGAAGAAGCCACCAAGGAG	0.552																																																0													94	92	93					8																	22473664		2203	4300	6503	SO:0001583	missense	57805			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1748C>T	chr8.hg19:g.22473664C>T	ENSP00000310670:p.Ala583Val		A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	hg19	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.012|2.012	-0.426830|-0.426830	0.04701|0.04701	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861|ENST00000520738	T;T;T|.	0.31769|.	1.48;1.48;1.48|.	3.18|3.18	0.0872|0.0872	0.14449|0.14449	.|.	0.654422|.	0.13268|.	N|.	0.400758|.	T|T	0.14313|0.14313	0.0346|0.0346	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.24404|0.24404	-1.0161|-1.0161	10|5	0.28530|.	T|.	0.3|.	-1.6537|-1.6537	3.0601|3.0601	0.06197|0.06197	0.1906:0.4477:0.0:0.3617|0.1906:0.4477:0.0:0.3617	.|.	258;583|.	G3V119;Q8N163|.	.;K1967_HUMAN|.	V|S	583;583;258|275	ENSP00000310670:A583V;ENSP00000373930:A583V;ENSP00000429773:A258V|.	ENSP00000310670:A583V|.	A|P	+|+	2|1	0|0	KIAA1967|KIAA1967	22529609|22529609	0.001000|0.001000	0.12720|0.12720	0.050000|0.050000	0.19076|0.19076	0.319000|0.319000	0.28217|0.28217	-0.315000|-0.315000	0.08081|0.08081	-0.013000|-0.013000	0.14199|0.14199	-0.323000|-0.323000	0.08544|0.08544	GCC|CCA		0.552	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		T	22473664	C	T	22473664	3	4	468	1	0	0	0	0	1	0	0	0	8267	739	26	2	1798	2	KIAA1967	8	22473664	Missense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08		22473664	123890358	26	25459											
TEX15	56154	hgsc.bcm.edu	37	8	30704070	30704070	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr8:30704070T>C	ENST00000256246.2	-	1	2538	c.2464A>G	c.(2464-2466)Att>Gtt	p.I822V	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	822					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGGGAATAAATGTCAAATCCT	0.373																																																0													55	51	53					8																	30704070		2203	4298	6501	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2464A>G	chr8.hg19:g.30704070T>C	ENSP00000256246:p.Ile822Val			Missense_Mutation	SNP	ENST00000256246.2	hg19	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.665157	0.00765	.	.	ENSG00000133863	ENST00000256246	T	0.09911	2.93	6.03	3.73	0.42828	.	0.872782	0.10069	N	0.719942	T	0.08846	0.0219	L	0.27053	0.805	0.09310	N	1	B	0.33171	0.4	B	0.33960	0.173	T	0.19224	-1.0312	10	0.87932	D	0	.	7.3269	0.26560	0.0:0.1436:0.0:0.8564	.	822	Q9BXT5	TEX15_HUMAN	V	822	ENSP00000256246:I822V	ENSP00000256246:I822V	I	-	1	0	TEX15	30823612	0.000000	0.05858	0.032000	0.17829	0.027000	0.11550	0.328000	0.19681	2.302000	0.77476	0.533000	0.62120	ATT		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			C	30704070	T	C	30704070	3	2	468	1	0	0	0	0	1	0	0	0	15784	1464	51	3	5921	3	TEX15	8	30704070	Missense_Mutation	SNP	T	TCGA-BQ-5892-01A-11D-1589-08	8230406	30704070	115659952	27	25460											
RORB	6096	hgsc.bcm.edu	37	9	77286722	77286722	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr9:77286722G>A	ENST00000396204.2	+	9	1162	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	RORB_ENST00000376896.3_Missense_Mutation_p.E377K			Q92753	RORB_HUMAN	RAR-related orphan receptor B	388	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E377Q(2)|p.E377*(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	CTGGCTTATAGAACCAAGGAA	0.428																																																3	Substitution - Missense(2)|Substitution - Nonsense(1)	breast(2)|ovary(1)											73	69	70					9																	77286722		2203	4300	6503	SO:0001583	missense	6096			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1162G>A	chr9.hg19:g.77286722G>A	ENSP00000379507:p.Glu388Lys		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	hg19		.	.	.	.	.	.	.	.	.	.	G	22.2	4.255074	0.80135	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.96967	-4.19;-4.19	5.73	5.73	0.89815	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	L	0.56280	1.765	0.80722	D	1	B;B	0.27594	0.182;0.01	B;B	0.35813	0.211;0.04	D	0.93462	0.6811	10	0.52906	T	0.07	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	388;377	Q92753;Q58EY0	RORB_HUMAN;.	K	377;388	ENSP00000366093:E377K;ENSP00000379507:E388K	ENSP00000366093:E377K	E	+	1	0	RORB	76476542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.807000	0.99171	2.861000	0.98227	0.655000	0.94253	GAA		0.428	RORB-201	KNOWN	basic	protein_coding	protein_coding				A	77286722	G	A	77286722	3	1	468	1	0	0	0	0	1	0	0	0	13535	943	33	2	1163	2	RORB	9	77286722	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08		77286722	63926709	28	25461											
SVEP1	79987	hgsc.bcm.edu	37	9	113265327	113265327	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr9:113265327delG	ENST00000401783.2	-	6	1810	c.1474delC	c.(1474-1476)cggfs	p.R492fs	SVEP1_ENST00000302728.8_Frame_Shift_Del_p.R492fs|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Frame_Shift_Del_p.R469fs|SVEP1_ENST00000374461.1_Frame_Shift_Del_p.R469fs	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	492	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCACACACCGGGGTTCTGGC	0.443																																																0													133	135	134					9																	113265327		1926	4129	6055	SO:0001589	frameshift_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1474delC	chr9.hg19:g.113265327delG	ENSP00000384917:p.Arg492fs		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Frame_Shift_Del	DEL	ENST00000401783.2	hg19	CCDS48004.1																																																																																				0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				-	113265327	G	-	113265327	7	5	468	1	0	1	0	1	0	0	0	0	15425	1115	39	0	9413	0	SVEP1	9	113265327	Frame_Shift_Del	DEL	G	TCGA-BQ-5892-01A-11D-1589-08	35978605	113265327	27948104	29	25462											
C10orf90	118611	hgsc.bcm.edu	37	10	128193076	128193076	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr10:128193076C>G	ENST00000284694.7	-	3	813	c.693G>C	c.(691-693)gaG>gaC	p.E231D	C10orf90_ENST00000544758.1_Missense_Mutation_p.E328D|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.E184D|C10orf90_ENST00000454341.1_Missense_Mutation_p.E231D|C10orf90_ENST00000356858.3_Missense_Mutation_p.E184D	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	231					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AAAAACTGGTCTCTTTGTCGT	0.557											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													73	78	76					10																	128193076		2203	4300	6503	SO:0001583	missense	118611			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.693G>C	chr10.hg19:g.128193076C>G	ENSP00000284694:p.Glu231Asp	1563	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	hg19	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944946	0.34283	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.28255	1.91;1.9;1.94;1.92;1.62	5.27	3.38	0.38709	.	0.457153	0.20722	N	0.086884	T	0.28863	0.0716	L	0.58101	1.795	0.09310	N	1	B;B;B;B;B	0.13594	0.001;0.001;0.008;0.001;0.001	B;B;B;B;B	0.19148	0.003;0.01;0.024;0.01;0.007	T	0.25641	-1.0126	10	0.59425	D	0.04	-3.5758	8.1384	0.31069	0.3227:0.5212:0.1561:0.0	.	328;328;184;231;231	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	D	184;231;231;328;231;184;184	ENSP00000284694:E231D;ENSP00000398786:E231D;ENSP00000444369:E328D;ENSP00000405995:E231D;ENSP00000376459:E184D	ENSP00000284694:E231D	E	-	3	2	C10orf90	128183066	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	0.565000	0.23578	0.756000	0.33013	0.655000	0.94253	GAG		0.557	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		G	128193076	C	G	128193076	3	3	468	1	0	0	0	0	1	0	0	0	1625	912	32	4	1434	4	C10orf90	10	128193076	Missense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08		128193076	7341671	30	25463											
OR52B2	255725	hgsc.bcm.edu	37	11	6190974	6190974	+	Missense_Mutation	SNP	T	T	A	rs35364339		TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr11:6190974T>A	ENST00000530810.1	-	1	664	c.583A>T	c.(583-585)Act>Tct	p.T195S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTTAACAGTGATGTCAGCA	0.478																																					NSCLC(5;186 261 1778 7098 14207)											0													51	51	51					11																	6190974		2072	4218	6290	SO:0001583	missense	255725			AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"GPCR / Class A : Olfactory receptors"	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.583A>T	chr11.hg19:g.6190974T>A	ENSP00000432011:p.Thr195Ser		Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	hg19	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	T	9.208	1.030275	0.19512	.	.	ENSG00000255307	ENST00000530810	T	0.00042	8.84	5.32	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.03881	-0.34	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.64347	-0.6429	9	0.26408	T	0.33	.	7.1804	0.25770	0.146:0.0:0.1526:0.7014	.	195	Q96RD2	O52B2_HUMAN	S	195	ENSP00000432011:T195S	ENSP00000432011:T195S	T	-	1	0	OR52B2	6147550	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.367000	0.20382	1.007000	0.39238	0.450000	0.29827	ACT		0.478	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		A	6190974	T	A	6190974	3	1	468	1	0	0	0	0	1	0	0	0	11113	1696	59	5	391	5	OR52B2	11	6190974	Missense_Mutation	SNP	T	TCGA-BQ-5892-01A-11D-1589-08		6190974	128815542	31	25464											
MTCH2	23788	hgsc.bcm.edu	37	11	47653227	47653227	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr11:47653227delG	ENST00000302503.3	-	6	563	c.406delC	c.(406-408)ctcfs	p.L136fs	MTCH2_ENST00000534074.1_5'Flank|MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	136					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TGTGTGATGAGGGTAGCAGCA	0.433																																																0													170	137	148					11																	47653227		2201	4298	6499	SO:0001589	frameshift_variant	23788			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.406delC	chr11.hg19:g.47653227delG	ENSP00000303222:p.Leu136fs		B2R7L8	Frame_Shift_Del	DEL	ENST00000302503.3	hg19	CCDS7943.1																																																																																				0.433	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		-	47653227	G	-	47653227	7	5	468	1	0	1	0	1	0	0	0	0	9916	1000	35	0	537	0	MTCH2	11	47653227	Frame_Shift_Del	DEL	G	TCGA-BQ-5892-01A-11D-1589-08	41462253	47653227	87353289	32	25465											
OR4C11	219429	hgsc.bcm.edu	37	11	55371448	55371448	+	Missense_Mutation	SNP	C	C	A	rs373760102		TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr11:55371448C>A	ENST00000302231.4	-	1	426	c.402G>T	c.(400-402)atG>atT	p.M134I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCTGCTGGCTCATGATGGTTG	0.463																																																0													88	72	78					11																	55371448		2177	4010	6187	SO:0001583	missense	219429			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.402G>T	chr11.hg19:g.55371448C>A	ENSP00000306651:p.Met134Ile		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	hg19	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319072	0.41096	.	.	ENSG00000172188	ENST00000302231	T	0.00551	6.65	4.34	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000014	T	0.02047	0.0064	M	0.82923	2.615	0.27993	N	0.935588	D	0.69078	0.997	D	0.75020	0.985	T	0.08027	-1.0742	10	0.72032	D	0.01	.	10.4812	0.44695	0.0:0.9023:0.0:0.0977	.	134	Q6IEV9	OR4CB_HUMAN	I	134	ENSP00000306651:M134I	ENSP00000306651:M134I	M	-	3	0	OR4C11	55128024	0.991000	0.36638	0.963000	0.40424	0.237000	0.25408	2.968000	0.49224	1.187000	0.43000	0.478000	0.44815	ATG		0.463	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		A	55371448	C	A	55371448	3	1	468	1	0	0	0	0	1	0	0	0	11047	826	29	4	532	4	OR4C11	11	55371448	Missense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	7718221	55371448	79635068	33	25466											
DDX47	51202	hgsc.bcm.edu	37	12	12974592	12974592	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr12:12974592T>C	ENST00000358007.3	+	4	396	c.374T>C	c.(373-375)gTg>gCg	p.V125A	DDX47_ENST00000352940.4_Missense_Mutation_p.V125A	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	125	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCTGTAGCTGTGATTGTAGGT	0.358																																																0													137	139	139					12																	12974592		2203	4300	6503	SO:0001583	missense	51202			AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.374T>C	chr12.hg19:g.12974592T>C	ENSP00000350698:p.Val125Ala		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	hg19	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.143646	0.77888	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.15017	2.46;2.46;2.46	4.87	4.87	0.63330	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	N	0.13299	0.325	0.80722	D	1	B;B;D	0.55385	0.398;0.186;0.971	B;B;P	0.59703	0.379;0.121;0.862	T	0.05517	-1.0880	10	0.46703	T	0.11	-19.7359	14.3028	0.66364	0.0:0.0:0.0:1.0	.	125;125;125	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	A	125;125;62	ENSP00000319578:V125A;ENSP00000350698:V125A;ENSP00000444000:V62A	ENSP00000319578:V125A	V	+	2	0	DDX47	12865859	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.293000	0.59037	2.051000	0.60960	0.454000	0.30748	GTG		0.358	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		C	12974592	T	C	12974592	3	2	468	1	0	0	0	0	1	0	0	0	4367	1696	59	3	388	3	DDX47	12	12974592	Missense_Mutation	SNP	T	TCGA-BQ-5892-01A-11D-1589-08		12974592	120877303	34	25467											
ANP32D	23519	hgsc.bcm.edu	37	12	48866684	48866684	+	Silent	SNP	C	C	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr12:48866684C>T	ENST00000266594.1	+	1	237	c.237C>T	c.(235-237)ggC>ggT	p.G79G		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	79						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CCTCAGTGGGCCTAGAAGTAT	0.378																																																0													91	91	91					12																	48866684		2203	4300	6503	SO:0001819	synonymous_variant	23519			U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"ANP32 acidic nuclear phosphoproteins"	16676	protein-coding gene	gene with protein product	"pp32 related 2"	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.237C>T	chr12.hg19:g.48866684C>T			Q6NTC4	Silent	SNP	ENST00000266594.1	hg19	CCDS31788.1																																																																																				0.378	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		T	48866684	C	T	48866684	2	4	468	1	0	0	0	0	0	0	0	1	708	726	26	2		2	ANP32D	12	48866684	Silent	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	35892092	48866684	84985211	35	25468											
PPFIA2	8499	hgsc.bcm.edu	37	12	81839465	81839465	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr12:81839465C>A	ENST00000549396.1	-	6	600	c.440G>T	c.(439-441)cGa>cTa	p.R147L	PPFIA2_ENST00000550584.2_Missense_Mutation_p.R147L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R147L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R73L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R73L|PPFIA2_ENST00000550359.2_5'UTR|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R147L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R129L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R129L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	147	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R147Q(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTTTCATGTCGTGACACAAG	0.393																																																1	Substitution - Missense(1)	large_intestine(1)											98	89	92					12																	81839465		1881	4113	5994	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.440G>T	chr12.hg19:g.81839465C>A	ENSP00000450337:p.Arg147Leu		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	hg19	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659794	0.96734	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000551442	T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.987	D;D	0.79108	0.992;0.953	T	0.62348	-0.6873	10	0.87932	D	0	-10.6387	20.3736	0.98901	0.0:1.0:0.0:0.0	.	47;147	B7Z4H8;O75334	.;LIPA2_HUMAN	L	147;129;73;158;129;147;73;147;129	ENSP00000450337:R147L;ENSP00000450298:R129L;ENSP00000385093:R73L;ENSP00000327416:R129L;ENSP00000449338:R147L;ENSP00000388373:R73L;ENSP00000447868:R147L;ENSP00000449469:R129L	ENSP00000327416:R129L	R	-	2	0	PPFIA2	80363596	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	CGA		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			A	81839465	C	A	81839465	3	1	468	1	0	0	0	0	1	0	0	0	12312	884	31	4	3441	4	PPFIA2	12	81839465	Missense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	32972781	81839465	52012430	36	25469											
CHD8	57680	hgsc.bcm.edu	37	14	21862522	21862522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr14:21862522delT	ENST00000557364.1	-	31	5776	c.5513delA	c.(5512-5514)aagfs	p.K1838fs	CHD8_ENST00000430710.3_Frame_Shift_Del_p.K1559fs|CHD8_ENST00000399982.2_Frame_Shift_Del_p.K1838fs|SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'Flank|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1838					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCATCTGTCTTTTTGTCTAG	0.498																																																0													76	78	77					14																	21862522		2011	4188	6199	SO:0001589	frameshift_variant	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5513delA	chr14.hg19:g.21862522delT	ENSP00000451601:p.Lys1838fs		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	hg19	CCDS53885.1																																																																																				0.498	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		-	21862522	T	-	21862522	7	5	468	1	0	1	0	1	0	0	0	0	3333	1609	56	0	2264	0	CHD8	14	21862522	Frame_Shift_Del	DEL	T	TCGA-BQ-5892-01A-11D-1589-08		21862522	85487018	37	25470											
FBXO34	55030	hgsc.bcm.edu	37	14	55818351	55818351	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr14:55818351C>G	ENST00000313833.4	+	2	1488	c.1243C>G	c.(1243-1245)Cct>Gct	p.P415A	FBXO34_ENST00000440021.1_Missense_Mutation_p.P415A	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	415										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CGTTGGGTTACCTTTTTCCTC	0.458																																																0													149	132	138					14																	55818351		2203	4300	6503	SO:0001583	missense	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1243C>G	chr14.hg19:g.55818351C>G	ENSP00000313159:p.Pro415Ala		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	hg19	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	0.065	-1.215359	0.01542	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.16897	2.31;2.31	5.48	1.31	0.21738	.	0.732971	0.11730	U	0.535077	T	0.12305	0.0299	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.33599	-0.9862	10	0.40728	T	0.16	-21.5592	0.8915	0.01255	0.1775:0.4073:0.173:0.2422	.	415	Q9NWN3	FBX34_HUMAN	A	415	ENSP00000313159:P415A;ENSP00000394117:P415A	ENSP00000313159:P415A	P	+	1	0	FBXO34	54888104	.	.	0.001000	0.08648	0.123000	0.20343	.	.	0.409000	0.25649	-0.156000	0.13503	CCT		0.458	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			G	55818351	C	G	55818351	3	3	468	1	0	0	0	0	1	0	0	0	5746	507	18	4	1245	4	FBXO34	14	55818351	Missense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	33955829	55818351	51531189	38	25471											
DICER1	23405	hgsc.bcm.edu	37	14	95562982	95562982	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr14:95562982C>A	ENST00000526495.1	-	25	4566	c.4275G>T	c.(4273-4275)gaG>gaT	p.E1425D	DICER1_ENST00000527414.1_Missense_Mutation_p.E1425D|DICER1_ENST00000393063.1_Missense_Mutation_p.E1425D|DICER1_ENST00000343455.3_Missense_Mutation_p.E1425D|DICER1_ENST00000541352.1_Missense_Mutation_p.E1425D|DICER1_ENST00000556045.1_Missense_Mutation_p.E323D			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1425					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACATCAGGCTctcctcctcct	0.478			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													60	56	57					14																	95562982		2203	4300	6503	SO:0001583	missense	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4275G>T	chr14.hg19:g.95562982C>A	ENSP00000437256:p.Glu1425Asp		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	hg19	CCDS9931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.715346|1.715346	0.30413|0.30413	.|.	.|.	ENSG00000100697|ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352|ENST00000532939	T;T;T;T;D;T|.	0.87103|.	0.36;0.36;0.36;0.36;-2.21;0.67|.	5.32|5.32	1.91|1.91	0.25777|0.25777	Ribonuclease III (3);|.	0.391869|0.391869	0.24366|0.24366	N|N	0.039146|0.039146	T|.	0.38746|.	0.1052|.	L|L	0.38175|0.38175	1.15|1.15	0.39976|0.39976	D|D	0.974854|0.974854	B;B;B|.	0.13594|.	0.008;0.001;0.0|.	B;B;B|.	0.14578|.	0.009;0.011;0.004|.	T|.	0.21075|.	-1.0256|.	10|.	0.30854|.	T|.	0.27|.	-10.9506|-10.9506	0.6205|0.6205	0.00777|0.00777	0.405:0.2239:0.2011:0.17|0.405:0.2239:0.2011:0.17	.|.	323;1425;1425|.	B3KRG4;E0AD28;Q9UPY3|.	.;.;DICER_HUMAN|.	D|X	1425;1425;1425;1425;323;1425|104	ENSP00000343745:E1425D;ENSP00000437256:E1425D;ENSP00000376783:E1425D;ENSP00000435681:E1425D;ENSP00000451041:E323D;ENSP00000444719:E1425D|.	ENSP00000343745:E1425D|.	E|E	-|-	3|1	2|0	DICER1|DICER1	94632735|94632735	0.946000|0.946000	0.32159|0.32159	0.825000|0.825000	0.32803|0.32803	0.882000|0.882000	0.50991|0.50991	0.405000|0.405000	0.21015|0.21015	0.561000|0.561000	0.29186|0.29186	0.561000|0.561000	0.74099|0.74099	GAG|GAG		0.478	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			A	95562982	C	A	95562982	3	1	468	1	0	0	0	0	1	0	0	0	4523	912	32	4	1513	4	DICER1	14	95562982	Missense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	39744631	95562982	11786558	39	25472											
TELO2	9894	hgsc.bcm.edu	37	16	1552985	1552985	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr16:1552985G>T	ENST00000262319.6	+	15	2103	c.1824G>T	c.(1822-1824)caG>caT	p.Q608H	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	608					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCCTCCGGCAGCGCATGGACA	0.622																																																0													143	133	137					16																	1552985		2199	4300	6499	SO:0001583	missense	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1824G>T	chr16.hg19:g.1552985G>T	ENSP00000262319:p.Gln608His		D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	hg19	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772621	0.69992	.	.	ENSG00000100726	ENST00000262319	T	0.26518	1.73	5.09	5.09	0.68999	Telomere length regulation protein, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	M	0.76938	2.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.50734	-0.8793	10	0.54805	T	0.06	-37.6041	10.8668	0.46860	0.0882:0.0:0.9118:0.0	.	608	Q9Y4R8	TELO2_HUMAN	H	608	ENSP00000262319:Q608H	ENSP00000262319:Q608H	Q	+	3	2	TELO2	1492986	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.437000	0.52863	2.391000	0.81399	0.462000	0.41574	CAG		0.622	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		T	1552985	G	T	1552985	3	4	468	1	0	0	0	0	1	0	0	0	15762	962	34	4	1878	4	TELO2	16	1552985	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08		1552985	88801768	40	25473											
CNOT1	23019	hgsc.bcm.edu	37	16	58580300	58580300	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr16:58580300T>G	ENST00000317147.5	-	29	4263	c.3931A>C	c.(3931-3933)Aat>Cat	p.N1311H	CNOT1_ENST00000569240.1_Missense_Mutation_p.N1306H|SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000441024.2_Missense_Mutation_p.N1311H|CNOT1_ENST00000245138.4_Missense_Mutation_p.N162H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1311	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCATCTAAATTCTTCAGGCGA	0.413																																																0													142	128	133					16																	58580300		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3931A>C	chr16.hg19:g.58580300T>G	ENSP00000320949:p.Asn1311His		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	hg19	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719378	0.48728	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.49432	0.81;0.78	5.39	5.39	0.77823	.	0.219192	0.53938	D	0.000042	T	0.35335	0.0928	N	0.24115	0.695	0.45541	D	0.998496	B;B;B;B	0.31351	0.0;0.32;0.0;0.003	B;B;B;B	0.34138	0.003;0.176;0.001;0.004	T	0.26258	-1.0108	10	0.48119	T	0.1	.	10.6062	0.45396	0.0:0.0753:0.0:0.9247	.	162;1311;1311;1306	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	H	1311;162;1306;1311	ENSP00000320949:N1311H;ENSP00000413113:N1311H	ENSP00000245138:N162H	N	-	1	0	CNOT1	57137801	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.289000	0.72696	2.043000	0.60533	0.528000	0.53228	AAT		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		G	58580300	T	G	58580300	3	3	468	1	0	0	0	0	1	0	0	0	3619	1783	62	5	3505	5	CNOT1	16	58580300	Missense_Mutation	SNP	T	TCGA-BQ-5892-01A-11D-1589-08	57027315	58580300	31774453	41	25474											
NFATC3	4775	hgsc.bcm.edu	37	16	68200904	68200904	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr16:68200904delT	ENST00000346183.3	+	5	1784	c.1760delT	c.(1759-1761)atafs	p.I587fs	NFATC3_ENST00000575270.1_Frame_Shift_Del_p.I587fs|NFATC3_ENST00000329524.4_Frame_Shift_Del_p.I587fs|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000349223.5_Frame_Shift_Del_p.I587fs	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	587	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ATAGCCTCTATACCCGTTGAG	0.383																																																0													223	215	218					16																	68200904		2198	4300	6498	SO:0001589	frameshift_variant	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1760delT	chr16.hg19:g.68200904delT	ENSP00000300659:p.Ile587fs		O75211|Q14516|Q99840|Q99841|Q99842	Frame_Shift_Del	DEL	ENST00000346183.3	hg19	CCDS10860.1																																																																																				0.383	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		-	68200904	T	-	68200904	7	5	468	1	0	1	0	1	0	0	0	0	10366	1406	49	0	1778	0	NFATC3	16	68200904	Frame_Shift_Del	DEL	T	TCGA-BQ-5892-01A-11D-1589-08	9620604	68200904	22153849	42	25475											
SLC13A5	284111	hgsc.bcm.edu	37	17	6597517	6597517	+	Splice_Site	SNP	C	C	G	rs113208940		TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:6597517C>G	ENST00000433363.2	-	8	1289		c.e8-1		SLC13A5_ENST00000381074.4_Splice_Site|SLC13A5_ENST00000573648.1_Splice_Site|SLC13A5_ENST00000293800.6_Splice_Site	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5						transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGAGACATACCTAGGTGGGGA	0.502																																																0													74	62	66					17																	6597517		2203	4300	6503	SO:0001630	splice_region_variant	284111			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1056-1G>C	chr17.hg19:g.6597517C>G			B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Splice_Site	SNP	ENST00000433363.2	hg19	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969840	0.34754	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5007	0.87731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC13A5	6538241	1.000000	0.71417	0.947000	0.38551	0.090000	0.18270	6.842000	0.75379	2.815000	0.96918	0.561000	0.74099	.		0.502	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550	Intron	G	6597517	C	G	6597517	5	3	468	1	0	0	0	0	0	0	1	0	14401	695	24	4	671	4	SLC13A5	17	6597517	Splice_Site	SNP	C	TCGA-BQ-5892-01A-11D-1589-08		6597517	74597693	43	25476											
ALOX12	239	hgsc.bcm.edu	37	17	6899500	6899500	+	Missense_Mutation	SNP	G	G	T	rs202195274	byFrequency	TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:6899500G>T	ENST00000251535.6	+	1	117	c.64G>T	c.(64-66)Gtg>Ttg	p.V22L	RP11-589P10.5_ENST00000573222.1_lincRNA|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	22	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GTACAACCGCGTGCAGCTTTG	0.756													G|||	3	0.000599042	0.0	0.0014	5008	,	,		9570	0.0		0.002	False		,,,				2504	0.0															0													4	4	4					17																	6899500		1680	3274	4954	SO:0001583	missense	239			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.64G>T	chr17.hg19:g.6899500G>T	ENSP00000251535:p.Val22Leu		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	hg19	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029860	0.75504	.	.	ENSG00000108839	ENST00000251535	T	0.70282	-0.47	4.89	4.89	0.63831	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.077311	0.51477	D	0.000088	T	0.76579	0.4007	M	0.86953	2.85	0.35586	D	0.806715	B	0.27791	0.189	B	0.34385	0.181	T	0.82514	-0.0419	10	0.62326	D	0.03	-9.731	13.7403	0.62845	0.0:0.0:1.0:0.0	.	22	P18054	LOX12_HUMAN	L	22	ENSP00000251535:V22L	ENSP00000251535:V22L	V	+	1	0	ALOX12	6840224	0.936000	0.31750	1.000000	0.80357	0.994000	0.84299	1.345000	0.33953	2.709000	0.92574	0.591000	0.81541	GTG		0.756	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			T	6899500	G	T	6899500	3	4	468	1	0	0	0	0	1	0	0	0	536	1145	40	4	66	4	ALOX12	17	6899500	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08	301983	6899500	74295710	44	25477											
GAS7	8522	hgsc.bcm.edu	37	17	9846496	9846496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:9846496G>A	ENST00000432992.2	-	7	833	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000542249.1_Nonsense_Mutation_p.Q161*|GAS7_ENST00000579158.1_Nonsense_Mutation_p.Q161*|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000578655.1_5'Flank|GAS7_ENST00000580865.1_Nonsense_Mutation_p.Q85*|GAS7_ENST00000585266.1_Nonsense_Mutation_p.Q165*|GAS7_ENST00000323816.4_Nonsense_Mutation_p.Q165*|GAS7_ENST00000437099.2_Nonsense_Mutation_p.Q161*	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	225	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						AGCTGTTTCTGGAGCAGTAGT	0.552			T	MLL	AML*																																		Dom	yes		17	17p	8522	growth arrest-specific 7		L	0													182	164	170					17																	9846496		2203	4300	6503	SO:0001587	stop_gained	8522			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.673C>T	chr17.hg19:g.9846496G>A	ENSP00000407552:p.Gln225*		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Nonsense_Mutation	SNP	ENST00000432992.2	hg19	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	38	6.925348	0.97940	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	.	.	.	5.36	5.36	0.76844	.	0.081859	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.6746	18.2231	0.89907	0.0:0.0:1.0:0.0	.	.	.	.	X	225;165;164;85;165;39	.	.	Q	-	1	0	GAS7	9787221	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	8.955000	0.93058	2.676000	0.91093	0.655000	0.94253	CAG		0.552	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		A	9846496	G	A	9846496	4	1	468	1	0	0	0	0	0	1	0	0	6252	1357	47	2	789	2	GAS7	17	9846496	Nonsense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08	2946996	9846496	71348714	45	25478											
MYO1D	4642	hgsc.bcm.edu	37	17	30932193	30932193	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:30932193C>T	ENST00000318217.5	-	21	3080	c.2776G>A	c.(2776-2778)Gac>Aac	p.D926N	MYO1D_ENST00000579584.1_Missense_Mutation_p.D926N|MYO1D_ENST00000394649.4_Missense_Mutation_p.D838N	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	926	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACAATGAGGTCTTTGTTGTCT	0.423																																																0													131	112	119					17																	30932193		2203	4300	6503	SO:0001583	missense	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2776G>A	chr17.hg19:g.30932193C>T	ENSP00000324527:p.Asp926Asn		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	hg19	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168518	0.94768	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	T	0.61158	0.13	4.88	4.88	0.63580	Myosin tail 2 (1);	0.000000	0.41294	U	0.000917	T	0.77579	0.4151	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.99;0.994	T	0.81355	-0.0970	10	0.72032	D	0.01	.	15.8776	0.79178	0.0:1.0:0.0:0.0	.	837;926	Q7Z3N6;O94832	.;MYO1D_HUMAN	N	926;118	ENSP00000324527:D926N	ENSP00000324527:D926N	D	-	1	0	MYO1D	27956306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.421000	0.82119	0.655000	0.94253	GAC		0.423	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			T	30932193	C	T	30932193	3	4	468	1	0	0	0	0	1	0	0	0	10073	913	32	2	252	2	MYO1D	17	30932193	Missense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	21085697	30932193	50263017	46	25479											
UBTF	7343	hgsc.bcm.edu	37	17	42289818	42289818	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:42289818G>C	ENST00000302904.4	-	8	1157	c.665C>G	c.(664-666)aCt>aGt	p.T222S	UBTF_ENST00000527034.1_Intron|UBTF_ENST00000526094.1_Intron|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Intron|UBTF_ENST00000533177.1_Intron|UBTF_ENST00000393606.3_Intron|UBTF_ENST00000436088.1_Missense_Mutation_p.T222S|UBTF_ENST00000529383.1_Missense_Mutation_p.T222S|UBTF_ENST00000537550.1_5'Flank			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	222					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTCCTTCGTAGTGGCCTGCAA	0.637																																																0													78	73	75					17																	42289818		2203	4300	6503	SO:0001583	missense	7343			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.665C>G	chr17.hg19:g.42289818G>C	ENSP00000302640:p.Thr222Ser		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	hg19	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	g	2.112	-0.403562	0.04832	.	.	ENSG00000108312	ENST00000302904;ENST00000436088;ENST00000529383	D;D;D	0.97791	-4.54;-4.54;-4.54	4.9	3.89	0.44902	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.171589	0.50627	N	0.000119	D	0.89853	0.6835	N	0.03050	-0.425	0.33275	D	0.561518	B	0.12630	0.006	B	0.23716	0.048	D	0.84792	0.0779	10	0.02654	T	1	-4.647	10.1054	0.42530	0.0:0.1493:0.696:0.1547	.	222	P17480	UBF1_HUMAN	S	222	ENSP00000302640:T222S;ENSP00000390669:T222S;ENSP00000435708:T222S	ENSP00000302640:T222S	T	-	2	0	UBTF	39645344	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.273000	0.65564	1.135000	0.42183	0.442000	0.29010	ACT		0.637	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		C	42289818	G	C	42289818	3	2	468	1	0	0	0	0	1	0	0	0	16914	1029	36	4	1685	4	UBTF	17	42289818	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08	11357625	42289818	38905392	47	25480											
MRPL10	124995	hgsc.bcm.edu	37	17	45901623	45901623	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:45901623G>A	ENST00000351111.2	-	5	739	c.734C>T	c.(733-735)tCt>tTt	p.S245F	OSBPL7_ENST00000392507.3_5'Flank|MRPL10_ENST00000414011.1_Missense_Mutation_p.S255F|MRPL10_ENST00000290208.7_Missense_Mutation_p.S255F|OSBPL7_ENST00000007414.3_5'Flank	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	245					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						CGACATGACAGAATCCTTCTC	0.577																																																0													119	104	109					17																	45901623		2203	4300	6503	SO:0001583	missense	124995			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"Mitochondrial ribosomal proteins / large subunits"	14055	protein-coding gene	gene with protein product	"39S ribosomal protein L10, mitochondrial"	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.734C>T	chr17.hg19:g.45901623G>A	ENSP00000324100:p.Ser245Phe		A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	hg19	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809636	0.50421	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.50813	0.73;1.76;1.76	4.76	2.49	0.30216	.	1.038680	0.07593	N	0.922261	T	0.57286	0.2043	L	0.59436	1.845	0.09310	N	1	P;D	0.56521	0.8;0.976	B;P	0.51016	0.347;0.656	T	0.53034	-0.8495	10	0.72032	D	0.01	-2.0384	13.9408	0.64054	0.0:0.3197:0.6803:0.0	.	245;255	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	F	245;255;255	ENSP00000324100:S245F;ENSP00000290208:S255F;ENSP00000395870:S255F	ENSP00000290208:S255F	S	-	2	0	MRPL10	43256622	0.009000	0.17119	0.001000	0.08648	0.056000	0.15407	1.692000	0.37731	0.954000	0.37851	0.491000	0.48974	TCT		0.577	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		A	45901623	G	A	45901623	3	1	468	1	0	0	0	0	1	0	0	0	9777	942	33	2	55	2	MRPL10	17	45901623	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08	3611805	45901623	35293587	48	25481											
SHC2	25759	hgsc.bcm.edu	37	19	422226	422226	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:422226T>C	ENST00000264554.6	-	11	1539	c.1540A>G	c.(1540-1542)Acc>Gcc	p.T514A		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	514	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGTTGGTGACGCTGTCT	0.677																																																0													23	28	27					19																	422226		2196	4298	6494	SO:0001583	missense	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1540A>G	chr19.hg19:g.422226T>C	ENSP00000264554:p.Thr514Ala		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	hg19	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738320	0.69304	.	.	ENSG00000129946	ENST00000264554	T	0.65178	-0.14	4.76	4.76	0.60689	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	M	0.65975	2.015	0.54753	D	0.999983	P	0.36495	0.556	P	0.44561	0.453	T	0.71563	-0.4555	10	0.62326	D	0.03	-60.9323	13.7837	0.63097	0.0:0.0:0.0:1.0	.	514	P98077	SHC2_HUMAN	A	514	ENSP00000264554:T514A	ENSP00000264554:T514A	T	-	1	0	SHC2	373226	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	7.409000	0.80053	2.084000	0.62774	0.533000	0.62120	ACC		0.677	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			C	422226	T	C	422226	3	2	468	1	0	0	0	0	1	0	0	0	14277	1696	59	3	216	3	SHC2	19	422226	Missense_Mutation	SNP	T	TCGA-BQ-5892-01A-11D-1589-08		422226	58706757	49	25482											
LRRC8E	80131	hgsc.bcm.edu	37	19	7960603	7960603	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:7960603delG	ENST00000306708.6	+	2	216	c.115delG	c.(115-117)gggfs	p.G39fs		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	39					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCTCATGATTGGGGTCTTTGG	0.627																																																0													120	90	100					19																	7960603		2203	4300	6503	SO:0001589	frameshift_variant	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.115delG	chr19.hg19:g.7960603delG	ENSP00000306524:p.Gly39fs		B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Frame_Shift_Del	DEL	ENST00000306708.6	hg19	CCDS12189.1																																																																																				0.627	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		-	7960603	G	-	7960603	7	5	468	1	0	1	0	1	0	0	0	0	9027	1348	47	0	117	0	LRRC8E	19	7960603	Frame_Shift_Del	DEL	G	TCGA-BQ-5892-01A-11D-1589-08	7538377	7960603	51168380	50	25483											
MUC16	94025	hgsc.bcm.edu	37	19	9046479	9046479	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:9046479C>G	ENST00000397910.4	-	5	35355	c.35152G>C	c.(35152-35154)Gta>Cta	p.V11718L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11720	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGCCATTACAGGTGTGGCA	0.502																																																0													125	120	121					19																	9046479		1975	4155	6130	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35152G>C	chr19.hg19:g.9046479C>G	ENSP00000381008:p.Val11718Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.049	0.377322	0.11466	.	.	ENSG00000181143	ENST00000397910	T	0.01998	4.51	3.09	-1.82	0.07857	.	.	.	.	.	T	0.00845	0.0028	N	0.01352	-0.895	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.47032	-0.9148	8	0.87932	D	0	.	1.1809	0.01845	0.2598:0.1629:0.1061:0.4712	.	11718	B5ME49	.	L	11718	ENSP00000381008:V11718L	ENSP00000381008:V11718L	V	-	1	0	MUC16	8907479	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.203000	0.09438	-0.527000	0.06374	-0.373000	0.07131	GTA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9046479	C	G	9046479	3	3	468	1	0	0	0	0	1	0	0	0	9975	478	17	4	8691	4	MUC16	19	9046479	Missense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	1085876	9046479	50082504	51	25484											
MUC16	94025	hgsc.bcm.edu	37	19	9085838	9085838	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:9085838C>A	ENST00000397910.4	-	1	6180	c.5977G>T	c.(5977-5979)Gaa>Taa	p.E1993*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1993	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAACTTTTTCTGAAGAAACT	0.473																																																0													139	135	136					19																	9085838		1983	4158	6141	SO:0001587	stop_gained	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5977G>T	chr19.hg19:g.9085838C>A	ENSP00000381008:p.Glu1993*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	46	12.553061	0.99677	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	1993	.	ENSP00000381008:E1993X	E	-	1	0	MUC16	8946838	0.001000	0.12720	0.291000	0.24904	0.292000	0.27327	0.223000	0.17719	0.308000	0.22923	0.313000	0.20887	GAA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9085838	C	A	9085838	4	1	468	1	0	0	0	0	0	1	0	0	9975	922	32	4	37882	4	MUC16	19	9085838	Nonsense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	39359	9085838	50043145	52	25485											
ZNF225	7768	hgsc.bcm.edu	37	19	44636328	44636328	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:44636328delT	ENST00000262894.6	+	5	1841	c.1561delT	c.(1561-1563)tttfs	p.F521fs	ZNF225_ENST00000590612.1_Frame_Shift_Del_p.F521fs|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TGGGAAAAGATTTACTCAGAA	0.388																																																0													83	92	89					19																	44636328		2200	4296	6496	SO:0001589	frameshift_variant	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1561delT	chr19.hg19:g.44636328delT	ENSP00000262894:p.Phe521fs		A8K8S2|Q53F12|Q9NS46|Q9UID8	Frame_Shift_Del	DEL	ENST00000262894.6	hg19	CCDS46100.1																																																																																				0.388	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			-	44636328	T	-	44636328	7	5	468	1	0	1	0	1	0	0	0	0	17784	1493	52	0	1575	0	ZNF225	19	44636328	Frame_Shift_Del	DEL	T	TCGA-BQ-5892-01A-11D-1589-08	35550490	44636328	14492655	53	25486											
ZNF544	27300	hgsc.bcm.edu	37	19	58774085	58774085	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:58774085G>A	ENST00000596652.1	+	6	2347	c.2113G>A	c.(2113-2115)Gtg>Atg	p.V705M	ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.V677M|ZNF544_ENST00000269829.4_Missense_Mutation_p.V705M|ZNF544_ENST00000599953.1_Missense_Mutation_p.V563M|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.V677M|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.V677M|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	705					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCAACTTGTAGTGCATCGGCG	0.488																																																0													143	146	145					19																	58774085		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.2113G>A	chr19.hg19:g.58774085G>A	ENSP00000469635:p.Val705Met		A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	hg19	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	7.249	0.602782	0.13939	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.36340	1.26;1.26	3.46	-0.182	0.13287	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24661	0.0598	L	0.49126	1.545	0.09310	N	1	B;B;P	0.39480	0.061;0.235;0.675	B;B;B	0.32677	0.018;0.019;0.15	T	0.12734	-1.0536	9	0.48119	T	0.1	.	4.3215	0.11020	0.411:0.1657:0.4233:0.0	.	677;677;705	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	M	705;677;257	ENSP00000269829:V705M;ENSP00000394341:V677M	ENSP00000269829:V705M	V	+	1	0	ZNF544	63465897	0.000000	0.05858	0.000000	0.03702	0.507000	0.33981	-0.746000	0.04829	-0.024000	0.13941	0.563000	0.77884	GTG		0.488	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		A	58774085	G	A	58774085	3	1	468	1	0	0	0	0	1	0	0	0	17982	1029	36	2	2127	2	ZNF544	19	58774085	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08	14137757	58774085	354898	54	25487											
JAG1	182	hgsc.bcm.edu	37	20	10625851	10625851	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr20:10625851C>T	ENST00000254958.5	-	17	2682	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	JAG1_ENST00000423891.2_Missense_Mutation_p.E564K|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	723	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.E723fs*6(1)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCATCCCCCTCATCATAGCAG	0.547									Alagille Syndrome																																							1	Insertion - Frameshift(1)	lung(1)											122	99	107					20																	10625851		2203	4300	6503	SO:0001583	missense	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2167G>A	chr20.hg19:g.10625851C>T	ENSP00000254958:p.Glu723Lys		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	hg19	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224010	0.39300	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.85629	-2.01;-2.01	5.85	5.85	0.93711	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	N	0.12569	0.235	0.58432	D	0.999995	B	0.02656	0.0	B	0.06405	0.002	T	0.68777	-0.5319	10	0.10377	T	0.69	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	723	P78504	JAG1_HUMAN	K	723;564	ENSP00000254958:E723K;ENSP00000389519:E564K	ENSP00000254958:E723K	E	-	1	0	JAG1	10573851	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	4.891000	0.63185	2.767000	0.95098	0.655000	0.94253	GAG		0.547	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		T	10625851	C	T	10625851	3	4	468	1	0	0	0	0	1	0	0	0	7936	835	29	2	1529	2	JAG1	20	10625851	Missense_Mutation	SNP	C	TCGA-BQ-5892-01A-11D-1589-08		10625851	52399669	55	25488											
CEP250	11190	hgsc.bcm.edu	37	20	34064377	34064378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr20:34064377_34064378insT	ENST00000397527.1	+	16	2540_2541	c.1820_1821insT	c.(1819-1824)gctttgfs	p.L608fs	RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Frame_Shift_Ins_p.L608fs	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	608	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTAAATGAGGCTTTGGCGTTAG	0.515																																																0																																										SO:0001589	frameshift_variant	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.1823dupT	chr20.hg19:g.34064380_34064380dupT	ENSP00000380661:p.Leu608fs		E1P5Q3|O14812|O60588|Q9H450	Frame_Shift_Ins	INS	ENST00000397527.1	hg19	CCDS13255.1																																																																																				0.515	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		T	34064378	-	T	34064377	7	5	468	1	0	1	1	0	0	0	0	0	3254	797	28	0	1870	0	CEP250	20	34064377	Frame_Shift_Ins	INS	-	TCGA-BQ-5892-01A-11D-1589-08	23438526	34064377	28961143	56	25489											
SON	6651	hgsc.bcm.edu	37	21	34918555	34918555	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr21:34918555T>G	ENST00000356577.4	+	2	589	c.114T>G	c.(112-114)aaT>aaG	p.N38K	SON_ENST00000300278.4_Missense_Mutation_p.N38K|SON_ENST00000381692.2_Missense_Mutation_p.N38K|SON_ENST00000381679.4_Missense_Mutation_p.N38K|SON_ENST00000290239.6_Missense_Mutation_p.N38K	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	38					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GTGAAACAAATACACCCATTG	0.393																																																0													75	76	76					21																	34918555		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.114T>G	chr21.hg19:g.34918555T>G	ENSP00000348984:p.Asn38Lys		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	hg19	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678619	0.68042	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000381692;ENST00000300278;ENST00000381679	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.68	-2.68	0.06041	.	0.232218	0.30244	N	0.010080	T	0.15003	0.0362	L	0.27053	0.805	0.22639	N	0.998909	B;D;D;D	0.58970	0.003;0.984;0.967;0.967	B;P;P;P	0.50860	0.001;0.449;0.652;0.652	T	0.20571	-1.0271	10	0.66056	D	0.02	.	10.9891	0.47539	0.0:0.578:0.0:0.422	.	38;38;38;38	Q6ZRV7;P18583;P18583-3;P18583-6	.;SON_HUMAN;.;.	K	38	ENSP00000348984:N38K;ENSP00000290239:N38K;ENSP00000371111:N38K;ENSP00000300278:N38K;ENSP00000371095:N38K	ENSP00000290239:N38K	N	+	3	2	SON	33840425	0.995000	0.38212	0.896000	0.35187	0.659000	0.38960	0.152000	0.16302	-0.281000	0.09141	-0.359000	0.07587	AAT		0.393	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		G	34918555	T	G	34918555	3	3	468	1	0	0	0	0	1	0	0	0	14932	1403	49	5	120	5	SON	21	34918555	Missense_Mutation	SNP	T	TCGA-BQ-5892-01A-11D-1589-08		34918555	13211340	57	25490											
SON	6651	hgsc.bcm.edu	37	21	34922861	34922861	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr21:34922861T>G	ENST00000356577.4	+	3	1799	c.1324T>G	c.(1324-1326)Tct>Gct	p.S442A	SON_ENST00000300278.4_Missense_Mutation_p.S442A|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S442A|SON_ENST00000290239.6_Missense_Mutation_p.S442A	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	442					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCCAGGGCCCTCTGTGACACC	0.632																																																0													34	37	36					21																	34922861		2202	4299	6501	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1324T>G	chr21.hg19:g.34922861T>G	ENSP00000348984:p.Ser442Ala		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	hg19	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937742	0.52972	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.14893	2.65;2.66;2.66;2.47	4.92	1.26	0.21427	.	0.404453	0.21839	N	0.068355	T	0.13713	0.0332	N	0.19112	0.55	0.24219	N	0.995448	P;P;P	0.47962	0.844;0.903;0.903	B;P;P	0.50270	0.432;0.636;0.636	T	0.09975	-1.0650	10	0.38643	T	0.18	.	6.7013	0.23227	0.0:0.3711:0.0:0.6289	.	442;442;442	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	A	442	ENSP00000348984:S442A;ENSP00000290239:S442A;ENSP00000300278:S442A;ENSP00000371095:S442A	ENSP00000290239:S442A	S	+	1	0	SON	33844731	.	.	1.000000	0.80357	0.966000	0.64601	.	.	0.427000	0.26145	0.402000	0.26972	TCT		0.632	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		G	34922861	T	G	34922861	3	3	468	1	0	0	0	0	1	0	0	0	14932	1551	54	5	1334	5	SON	21	34922861	Missense_Mutation	SNP	T	TCGA-BQ-5892-01A-11D-1589-08	4306	34922861	13207034	58	25491											
PRMT2	3275	hgsc.bcm.edu	37	21	48056904	48056905	+	Splice_Site	INS	-	-	AA			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr21:48056904_48056905insAA	ENST00000397637.1	+	2	993		c.e2+2		PRMT2_ENST00000397628.1_Splice_Site|PRMT2_ENST00000451211.2_Splice_Site|PRMT2_ENST00000355680.3_Splice_Site|PRMT2_ENST00000334494.4_Splice_Site|PRMT2_ENST00000458387.2_Splice_Site|PRMT2_ENST00000291705.6_Splice_Site|PRMT2_ENST00000440086.1_Splice_Site|PRMT2_ENST00000397638.2_Splice_Site			P55345	ANM2_HUMAN	protein arginine methyltransferase 2						developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GAATCGCAGGTAATTTCCGTTC	0.421																																																0																																										SO:0001630	splice_region_variant	3275			U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.39+2->AA	chr21.hg19:g.48056905_48056906dupAA			B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Splice_Site	INS	ENST00000397637.1	hg19	CCDS13737.1																																																																																				0.421	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535	Intron	AA	48056905	-	AA	48056904	8	5	468	1	0	1	1	0	0	0	1	0	12542	1652	57	0	43	0	PRMT2	21	48056904	Splice_Site	INS	-	TCGA-BQ-5892-01A-11D-1589-08	13134043	48056904	72991	59	25492											
UBE2L3	7332	hgsc.bcm.edu	37	22	21975858	21975858	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr22:21975858G>C	ENST00000342192.4	+	4	563	c.365G>C	c.(364-366)cGg>cCg	p.R122P	UBE2L3_ENST00000545681.1_Missense_Mutation_p.R90P|UBE2L3_ENST00000458578.2_Missense_Mutation_p.R180P	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	122					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842)		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					CACCCGCTTCGGGCTGACCTA	0.478																																																0													34	34	34					22																	21975858		2203	4300	6503	SO:0001583	missense	7332			AJ000519	CCDS13790.1, CCDS58795.1, CCDS58796.1	22q11.2	2007-02-05			ENSG00000185651	ENSG00000185651		"Ubiquitin-conjugating enzymes E2"	12488	protein-coding gene	gene with protein product		603721				8672131, 9693040	Standard	NM_001256356		Approved	UBCH7	uc031rxe.1	P68036	OTTHUMG00000150823	ENST00000342192.4:c.365G>C	chr22.hg19:g.21975858G>C	ENSP00000344259:p.Arg122Pro		B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1	Missense_Mutation	SNP	ENST00000342192.4	hg19	CCDS13790.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485144	0.84854	.	.	ENSG00000185651	ENST00000458578;ENST00000342192;ENST00000545681	T;T;T	0.71934	-0.61;-0.61;1.16	5.66	5.66	0.87406	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.070661	0.53938	D	0.000050	D	0.87103	0.6094	M	0.90814	3.15	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75484	0.986;0.977	D	0.89031	0.3442	10	0.66056	D	0.02	.	17.2403	0.87011	0.0:0.0:1.0:0.0	.	90;122	B4DDG1;P68036	.;UB2L3_HUMAN	P	180;122;90	ENSP00000400906:R180P;ENSP00000344259:R122P;ENSP00000445931:R90P	ENSP00000344259:R122P	R	+	2	0	UBE2L3	20305858	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.848000	0.99507	2.680000	0.91292	0.561000	0.74099	CGG		0.478	UBE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320219.1	NM_198157		C	21975858	G	C	21975858	3	2	468	1	0	0	0	0	1	0	0	0	16868	1116	39	4	379	4	UBE2L3	22	21975858	Missense_Mutation	SNP	G	TCGA-BQ-5892-01A-11D-1589-08		21975858	29328708	60	25493											
ATXN3L	92552	hgsc.bcm.edu	37	X	13337247	13337248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chrX:13337247_13337248delTG	ENST00000380622.2	-	1	1270_1271	c.806_807delCA	c.(805-807)acafs	p.T269fs	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	269					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTACACATGATGTCTTTGGAAG	0.426																																																0																																										SO:0001589	frameshift_variant	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.806_807delCA	chrX.hg19:g.13337247_13337248delTG	ENSP00000369996:p.Thr269fs		B2RNY8	Frame_Shift_Del	DEL	ENST00000380622.2	hg19	CCDS48080.1																																																																																				0.426	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		-	13337248	TG	-	13337247	7	5	468	1	0	1	0	1	0	0	0	0	1214	1451	51	0	264	0	ATXN3L	23	13337247	Frame_Shift_Del	DEL	TG	TCGA-BQ-5892-01A-11D-1589-08		13337247	141933313	61	25494											
UTP14A	10813	hgsc.bcm.edu	37	X	129045744	129045744	+	Silent	SNP	C	C	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chrX:129045744C>T	ENST00000394422.3	+	6	412	c.384C>T	c.(382-384)atC>atT	p.I128I	UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000371042.3_5'Flank|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Silent_p.I74I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	128					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGCTTCAGATCCACAGAGAAG	0.473																																																0													139	133	135					X																	129045744		2203	4300	6503	SO:0001819	synonymous_variant	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.384C>T	chrX.hg19:g.129045744C>T			A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	hg19	CCDS14615.1																																																																																				0.473	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		T	129045744	C	T	129045744	2	4	468	1	0	0	0	0	0	0	0	1	17100	845	30	2		2	UTP14A	23	129045744	Silent	SNP	C	TCGA-BQ-5892-01A-11D-1589-08	115708497	129045744	26224816	62	25495											
JAK1	3716	hgsc.bcm.edu	37	1	65344759	65344759	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr1:65344759C>T	ENST00000342505.4	-	4	526	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	93	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGTGATGGTGCGATTTGGAGC	0.507			Mis		ALL																																		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													134	132	133					1																	65344759		2051	4200	6251	SO:0001583	missense	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.278G>A	chr1.hg19:g.65344759C>T	ENSP00000343204:p.Arg93His		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	hg19	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.643910	0.00792	.	.	ENSG00000162434	ENST00000342505	T	0.60797	0.16	5.17	-4.45	0.03546	Band 4.1 domain (1);FERM domain (1);	.	.	.	.	T	0.03564	0.0102	N	0.00044	-2.46	0.20926	N	0.999829	B	0.02656	0.0	B	0.01281	0.0	T	0.48091	-0.9065	9	0.02654	T	1	-0.1135	14.8839	0.70553	0.0:0.2045:0.0:0.7955	.	93	P23458	JAK1_HUMAN	H	93	ENSP00000343204:R93H	ENSP00000343204:R93H	R	-	2	0	JAK1	65117347	0.002000	0.14202	0.069000	0.20011	0.073000	0.16967	-0.194000	0.09559	-0.765000	0.04645	-0.794000	0.03295	CGC		0.507	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		T	65344759	C	T	65344759	3	4	469	1	0	0	0	0	1	0	0	0	7939	768	27	1	3274	1	JAK1	1	65344759	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08		65344759	183905862	1	25496											
SNX7	51375	hgsc.bcm.edu	37	1	99150445	99150445	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr1:99150445C>A	ENST00000306121.3	+	2	194	c.185C>A	c.(184-186)gCc>gAc	p.A62D	SNX7_ENST00000370189.5_5'UTR|SNX7_ENST00000529992.1_Missense_Mutation_p.A62D	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	200	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TCTTAGGATGCCTCATTGATG	0.303																																																0													97	88	91					1																	99150445		2203	4300	6503	SO:0001583	missense	51375			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.185C>A	chr1.hg19:g.99150445C>A	ENSP00000304429:p.Ala62Asp		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	hg19	CCDS755.2	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624884	0.66901	.	.	ENSG00000162627	ENST00000529992;ENST00000306121	T;T	0.32753	2.12;1.44	5.29	4.36	0.52297	.	.	.	.	.	T	0.15522	0.0374	N	0.19112	0.55	0.80722	D	1	B;D	0.53462	0.003;0.96	B;P	0.51229	0.003;0.663	T	0.03221	-1.1059	9	0.16896	T	0.51	.	15.2016	0.73142	0.142:0.858:0.0:0.0	.	62;62	E9PNL2;Q9UNH6-3	.;.	D	62	ENSP00000434731:A62D;ENSP00000304429:A62D	ENSP00000304429:A62D	A	+	2	0	SNX7	98923033	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.677000	0.54619	1.212000	0.43366	0.650000	0.86243	GCC		0.303	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			A	99150445	C	A	99150445	3	1	469	1	0	0	0	0	1	0	0	0	14913	739	26	4	191	4	SNX7	1	99150445	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	33805686	99150445	150100176	2	25497											
SLC9A11	284525	hgsc.bcm.edu	37	1	173505010	173505010	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr1:173505010G>T	ENST00000367714.3	-	15	2156	c.1734C>A	c.(1732-1734)ttC>ttA	p.F578L	SLC9C2_ENST00000536496.1_Intron|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	578					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.F578L(1)									AATATTCCAAGAAAGTTAAAA	0.259																																																1	Substitution - Missense(1)	large_intestine(1)											30	36	34					1																	173505010		2143	4195	6338	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1734C>A	chr1.hg19:g.173505010G>T	ENSP00000356687:p.Phe578Leu		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	hg19	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	G	1.013	-0.687321	0.03328	.	.	ENSG00000162753	ENST00000367714	T	0.04275	3.66	5.81	2.48	0.30137	.	0.605739	0.15672	N	0.250356	T	0.00967	0.0032	L	0.36672	1.1	0.09310	N	1	B	0.22346	0.068	B	0.15484	0.013	T	0.47898	-0.9081	10	0.11485	T	0.65	-5.8685	3.7288	0.08485	0.2435:0.2051:0.5513:0.0	.	578	Q5TAH2	S9A11_HUMAN	L	578	ENSP00000356687:F578L	ENSP00000356687:F578L	F	-	3	2	SLC9A11	171771633	0.739000	0.28196	0.234000	0.24042	0.083000	0.17756	1.040000	0.30278	0.747000	0.32809	0.603000	0.83216	TTC		0.259	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		T	173505010	G	T	173505010	3	4	469	1	0	0	0	0	1	0	0	0	14717	933	33	4	1696	4	SLC9A11	1	173505010	Missense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	74354565	173505010	75745611	3	25498											
OR13G1	441933	hgsc.bcm.edu	37	1	247835611	247835611	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr1:247835611C>G	ENST00000359688.2	-	1	754	c.733G>C	c.(733-735)Gtg>Ctg	p.V245L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAAAGGGTCACCACTGTGAGA	0.448																																																0													162	139	147					1																	247835611		2203	4300	6503	SO:0001583	missense	441933			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.733G>C	chr1.hg19:g.247835611C>G	ENSP00000352717:p.Val245Leu		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	hg19	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373546	0.24857	.	.	ENSG00000197437	ENST00000359688	T	0.00355	7.91	4.2	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001320	T	0.00815	0.0027	M	0.86740	2.835	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.26258	-1.0108	10	0.66056	D	0.02	-60.5376	10.2821	0.43545	0.0:0.9016:0.0:0.0984	.	245	Q8NGZ3	O13G1_HUMAN	L	245	ENSP00000352717:V245L	ENSP00000352717:V245L	V	-	1	0	OR13G1	245902234	0.021000	0.18746	0.037000	0.18230	0.096000	0.18686	0.139000	0.16036	1.126000	0.42016	-0.214000	0.12660	GTG		0.448	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		G	247835611	C	G	247835611	3	3	469	1	0	0	0	0	1	0	0	0	10944	507	18	4	194	4	OR13G1	1	247835611	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	74330601	247835611	1415010	4	25499											
PIK3CA	5290	hgsc.bcm.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	chr3.hg19:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	hg19	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936091	G	A	178936091	3	1	469	1	0	0	0	0	1	0	0	0	11915	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08		178936091	19086339	5	25500											
COL4A3BP	10087	hgsc.bcm.edu	37	5	74712823	74712828	+	In_Frame_Del	DEL	TACCAT	TACCAT	-			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	TACCAT	TACCAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr5:74712823_74712828delTACCAT	ENST00000405807.4	-	7	1131_1136	c.710_715delATGGTA	c.(709-717)aatggtata>ata	p.NG237del	COL4A3BP_ENST00000380494.5_In_Frame_Del_p.NG365del|COL4A3BP_ENST00000261415.7_In_Frame_Del_p.NG237del	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	237					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TTAAAGTCTATACCATTAATTCCTTT	0.32																																																0																																										SO:0001651	inframe_deletion	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.710_715delATGGTA	chr5.hg19:g.74712823_74712828delTACCAT	ENSP00000383996:p.Asn237_Gly238del		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	In_Frame_Del	DEL	ENST00000405807.4	hg19	CCDS4028.1																																																																																				0.32	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		-	74712828	TACCAT	-	74712823	7	5	469	1	0	1	0	1	0	0	0	0	3694	1406	49	0	1203	0	COL4A3BP	5	74712823	In_Frame_Del	DEL	TACCAT	TCGA-BQ-5893-01A-11D-1589-08		74712823	106202437	6	25501											
LARS	51520	hgsc.bcm.edu	37	5	145533344	145533344	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr5:145533344C>T	ENST00000394434.2	-	12	1349	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N	LARS_ENST00000545646.1_Missense_Mutation_p.D349N|LARS_ENST00000274562.9_Missense_Mutation_p.D368N|LARS_ENST00000510191.1_Missense_Mutation_p.D341N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	395	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCAGGGGAGTCGGAAGGAACA	0.363																																																0													128	121	123					5																	145533344		2203	4300	6503	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1183G>A	chr5.hg19:g.145533344C>T	ENSP00000377954:p.Asp395Asn		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	hg19	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346551	0.95807	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.59	5.59	0.84812	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.67664	0.2917	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.996;0.948	T	0.70536	-0.4845	10	0.54805	T	0.06	-7.3038	19.956	0.97218	0.0:1.0:0.0:0.0	.	368;349;395	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	N	395;349;341;368	ENSP00000377954:D395N;ENSP00000437791:D349N;ENSP00000426005:D341N;ENSP00000274562:D368N	ENSP00000274562:D368N	D	-	1	0	LARS	145513537	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	5.851000	0.69481	2.788000	0.95919	0.557000	0.71058	GAC		0.363	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		T	145533344	C	T	145533344	3	4	469	1	0	0	0	0	1	0	0	0	8636	884	31	1	2431	1	LARS	5	145533344	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	70820521	145533344	35381916	7	25502											
GRPEL2	134266	hgsc.bcm.edu	37	5	148730749	148730749	+	Silent	SNP	C	C	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr5:148730749C>T	ENST00000329271.3	+	4	692	c.582C>T	c.(580-582)acC>acT	p.T194T	GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	194					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGGCACCGTGGCATTAG	0.527																																																0													119	111	114					5																	148730749		2203	4300	6503	SO:0001819	synonymous_variant	134266			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.582C>T	chr5.hg19:g.148730749C>T			B4DFA6|Q49AJ6	Silent	SNP	ENST00000329271.3	hg19	CCDS4295.1																																																																																				0.527	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252327.1	NM_152407		T	148730749	C	T	148730749	2	4	469	1	0	0	0	0	0	0	0	1	6809	639	23	1		1	GRPEL2	5	148730749	Silent	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	3197405	148730749	32184511	8	25503											
BCLAF1	9774	hgsc.bcm.edu	37	6	136599912	136599912	+	Missense_Mutation	SNP	G	G	T	rs200334350		TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr6:136599912G>T	ENST00000531224.1	-	4	359	c.107C>A	c.(106-108)tCt>tAt	p.S36Y	BCLAF1_ENST00000392348.2_Intron|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S36Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S36Y|BCLAF1_ENST00000353331.4_Intron|BCLAF1_ENST00000527759.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	36					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACGAGACCTAGAACTAAAAAT	0.318																																					Colon(142;1534 1789 5427 7063 28491)											0													23	24	24					6																	136599912		2199	4289	6488	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.107C>A	chr6.hg19:g.136599912G>T	ENSP00000435210:p.Ser36Tyr		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	hg19	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	5.506	0.278344	0.10403	.	.	ENSG00000029363	ENST00000531224;ENST00000527536;ENST00000530767;ENST00000529826	T;T;T;T	0.46819	1.23;1.07;0.86;0.93	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000004	T	0.63295	0.2499	M	0.61703	1.905	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.74348	0.983;0.983	T	0.64245	-0.6453	10	0.87932	D	0	-6.9024	20.1392	0.98050	0.0:0.0:1.0:0.0	.	36;36	Q9NYF8;Q9NYF8-4	BCLF1_HUMAN;.	Y	36	ENSP00000435210:S36Y;ENSP00000435441:S36Y;ENSP00000436501:S36Y;ENSP00000431734:S36Y	ENSP00000435441:S36Y	S	-	2	0	BCLAF1	136641605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.159000	0.77483	2.765000	0.95021	0.557000	0.71058	TCT		0.318	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		T	136599912	G	T	136599912	3	4	469	1	0	0	0	0	1	0	0	0	1383	942	33	4	2695	4	BCLAF1	6	136599912	Missense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08		136599912	34515155	9	25504											
SAMD5	389432	hgsc.bcm.edu	37	6	147830100	147830100	+	Silent	SNP	G	G	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr6:147830100G>A	ENST00000367474.1	+	1	38	c.36G>A	c.(34-36)gcG>gcA	p.A12A		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	12	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GGCTCAAAGCGCTGCAGCTTC	0.637																																																0													53	49	50					6																	147830100		2203	4300	6503	SO:0001819	synonymous_variant	389432			AL354880	CCDS34548.1	6q24.3	2013-01-10			ENSG00000203727	ENSG00000203727		"Sterile alpha motif (SAM) domain containing"	21180	protein-coding gene	gene with protein product							Standard	NM_001030060		Approved	dJ875H10.1	uc003qmc.2	Q5TGI4	OTTHUMG00000015767	ENST00000367474.1:c.36G>A	chr6.hg19:g.147830100G>A				Silent	SNP	ENST00000367474.1	hg19	CCDS34548.1																																																																																				0.637	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042610.1	NM_001030060		A	147830100	G	A	147830100	2	1	469	1	0	0	0	0	0	0	0	1	13829	1074	38	1		1	SAMD5	6	147830100	Silent	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	11230188	147830100	23284967	10	25505											
PKD1L1	168507	hgsc.bcm.edu	37	7	47970797	47970797	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr7:47970797G>A	ENST00000289672.2	-	6	691	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	214					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTCTCCATCGTGACAGTCCC	0.617																																																0													67	68	68					7																	47970797		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.641C>T	chr7.hg19:g.47970797G>A	ENSP00000289672:p.Thr214Met		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859718	0.17178	.	.	ENSG00000158683	ENST00000289672	T	0.23147	1.92	3.26	-2.9	0.05648	.	6.156550	0.00725	N	0.000901	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.08055	0.003	T	0.20505	-1.0273	10	0.46703	T	0.11	.	4.4996	0.11858	0.4273:0.1738:0.3989:0.0	.	214	Q8TDX9	PK1L1_HUMAN	M	214	ENSP00000289672:T214M	ENSP00000289672:T214M	T	-	2	0	PKD1L1	47937322	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.622000	0.02042	-0.610000	0.05716	-0.225000	0.12378	ACG		0.617	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47970797	G	A	47970797	3	1	469	1	0	0	0	0	1	0	0	0	11966	1145	40	1	8116	1	PKD1L1	7	47970797	Missense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08		47970797	111167866	11	25506											
TPK1	27010	hgsc.bcm.edu	37	7	144245631	144245631	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr7:144245631C>A	ENST00000360057.3	-	8	668	c.566G>T	c.(565-567)gGa>gTa	p.G189V	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.G135V|TPK1_ENST00000549981.1_Missense_Mutation_p.G72V|TPK1_ENST00000378099.3_Missense_Mutation_p.G140V	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	189					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACAAGGCTGTCCAACAGGAAT	0.418																																					Ovarian(45;88 1034 2073 5829 28455)											0													200	167	178					7																	144245631		2203	4300	6503	SO:0001583	missense	27010			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"placental protein 20", "thiamine pyrophosphokinase 1", "thiamine kinase", "thiamine diphosphokinase"	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.566G>T	chr7.hg19:g.144245631C>A	ENSP00000353165:p.Gly189Val		A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	hg19	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524985	0.64747	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000549981	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.95	5.95	0.96441	Thiamin pyrophosphokinase, vitamin B1-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.91402	0.7287	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.999	D	0.92101	0.5688	10	0.59425	D	0.04	-17.4306	15.8749	0.79154	0.0:1.0:0.0:0.0	.	140;189;135	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	V	189;135;140;72	ENSP00000353165:G189V;ENSP00000438813:G135V;ENSP00000367339:G140V;ENSP00000448698:G72V	ENSP00000353165:G189V	G	-	2	0	TPK1	143876564	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	5.315000	0.65810	2.817000	0.96982	0.563000	0.77884	GGA		0.418	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		A	144245631	C	A	144245631	3	1	469	1	0	0	0	0	1	0	0	0	16409	855	30	4	173	4	TPK1	7	144245631	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	96274834	144245631	14893032	12	25507											
MLL3	58508	hgsc.bcm.edu	37	7	151845739	151845739	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr7:151845739C>A	ENST00000262189.6	-	52	13491	c.13273G>T	c.(13273-13275)Gat>Tat	p.D4425Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.D4482Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4425					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACCCACAGATCCAAGTCAAGG	0.502																																																0													97	89	92					7																	151845739		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13273G>T	chr7.hg19:g.151845739C>A	ENSP00000262189:p.Asp4425Tyr		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	hg19	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.05|17.05	3.290706|3.290706	0.59976|0.59976	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.90385|.	-2.0;-1.98;-2.66|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.44285|.	U|.	0.000480|.	T|T	0.78123|0.78123	0.4234|0.4234	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.999;0.999|.	T|T	0.78221|0.78221	-0.2288|-0.2288	10|5	0.49607|.	T|.	0.09|.	.|.	19.1777|19.1777	0.93609|0.93609	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4425;3543;4482|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	Y|V	4425;4482;1042|1985	ENSP00000262189:D4425Y;ENSP00000347325:D4482Y;ENSP00000410411:D1042Y|.	ENSP00000262189:D4425Y|.	D|G	-|-	1|2	0|0	MLL3|MLL3	151476672|151476672	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.957000|0.957000	0.61999|0.61999	7.776000|7.776000	0.85560|0.85560	2.602000|2.602000	0.87976|0.87976	0.557000|0.557000	0.71058|0.71058	GAT|GGA		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			A	151845739	C	A	151845739	3	1	469	1	0	0	0	0	1	0	0	0	9624	855	30	4	1494	4	MLL3	7	151845739	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	7600108	151845739	7292924	13	25508											
MYOM2	9172	hgsc.bcm.edu	37	8	2044224	2044224	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:2044224A>G	ENST00000262113.4	+	18	2404	c.2263A>G	c.(2263-2265)Aaa>Gaa	p.K755E	MYOM2_ENST00000523438.1_Missense_Mutation_p.K180E	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	755	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGTTCACCATAAAAACTGGCA	0.517																																																0													104	92	96					8																	2044224		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2263A>G	chr8.hg19:g.2044224A>G	ENSP00000262113:p.Lys755Glu		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	hg19	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.135743	0.00335	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.54675	0.56;0.56	5.46	0.23	0.15372	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.912312	0.09530	N	0.789730	T	0.32315	0.0825	N	0.25201	0.72	0.09310	N	1	B	0.23540	0.087	B	0.30943	0.122	T	0.31166	-0.9953	10	0.02654	T	1	.	6.2231	0.20693	0.4732:0.3775:0.0689:0.0804	.	755	P54296	MYOM2_HUMAN	E	755;180	ENSP00000262113:K755E;ENSP00000428396:K180E	ENSP00000262113:K755E	K	+	1	0	MYOM2	2031631	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.150000	0.16263	-0.212000	0.10109	-1.477000	0.00996	AAA		0.517	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		G	2044224	A	G	2044224	3	3	469	1	0	0	0	0	1	0	0	0	10094	363	13	3	2329	3	MYOM2	8	2044224	Missense_Mutation	SNP	A	TCGA-BQ-5893-01A-11D-1589-08		2044224	144319798	14	25509											
FAM110B	90362	hgsc.bcm.edu	37	8	59059734	59059734	+	Silent	SNP	C	C	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:59059734C>T	ENST00000361488.3	+	5	1825	c.945C>T	c.(943-945)agC>agT	p.S315S	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	315						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GCATGATCAGCTCAGACTGTG	0.483																																																0													79	75	76					8																	59059734		2203	4300	6503	SO:0001819	synonymous_variant	90362			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.945C>T	chr8.hg19:g.59059734C>T			Q5BM08|Q9Y4K2	Silent	SNP	ENST00000361488.3	hg19	CCDS6170.1																																																																																				0.483	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		T	59059734	C	T	59059734	2	4	469	1	0	0	0	0	0	0	0	1	5399	796	28	2		2	FAM110B	8	59059734	Silent	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	57015510	59059734	87304288	15	25510											
CSPP1	79848	hgsc.bcm.edu	37	8	68087587	68087587	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:68087587C>A	ENST00000262210.5	+	24	3041	c.3010C>A	c.(3010-3012)Cac>Aac	p.H1004N	ARFGEF1_ENST00000520381.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.H659N|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1039					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGAGATCATCACACCTTAGA	0.363																																																0													67	66	66					8																	68087587		1874	4104	5978	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3010C>A	chr8.hg19:g.68087587C>A	ENSP00000262210:p.His1004Asn		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	hg19	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034076	0.35893	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.29655	1.56;1.58;1.58	4.8	1.4	0.22301	.	0.673183	0.14117	N	0.340319	T	0.18425	0.0442	L	0.29908	0.895	0.54753	D	0.999989	B;B;B;B	0.25904	0.137;0.102;0.082;0.034	B;B;B;B	0.25140	0.058;0.05;0.037;0.025	T	0.07927	-1.0747	10	0.36615	T	0.2	-2.5735	4.0688	0.09872	0.1755:0.4941:0.2432:0.0872	.	162;659;1004;1039	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	N	1004;1039;659;659	ENSP00000262210:H1004N;ENSP00000415782:H659N;ENSP00000430092:H659N	ENSP00000262210:H1004N	H	+	1	0	CSPP1	68250141	0.582000	0.26749	0.987000	0.45799	0.995000	0.86356	0.360000	0.20250	0.541000	0.28827	0.591000	0.81541	CAC		0.363	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		A	68087587	C	A	68087587	3	1	469	1	0	0	0	0	1	0	0	0	3964	826	29	4	3217	4	CSPP1	8	68087587	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	9027853	68087587	78276435	16	25511											
CSMD3	114788	hgsc.bcm.edu	37	8	113249531	113249531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:113249531G>T	ENST00000297405.5	-	67	10759	c.10515C>A	c.(10513-10515)taC>taA	p.Y3505*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y3336*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y3465*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y3435*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3505						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTGAAATTGTAAGAGCCTT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													157	144	148					8																	113249531		2203	4300	6503	SO:0001587	stop_gained	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10515C>A	chr8.hg19:g.113249531G>T	ENSP00000297405:p.Tyr3505*		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	51	17.550337	0.99888	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.77	-1.61	0.08399	.	0.090578	0.46442	D	0.000299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6815	0.23123	0.3366:0.1118:0.5516:0.0	.	.	.	.	X	3465;3505;2775;3336;3435	.	ENSP00000297405:Y3505X	Y	-	3	2	CSMD3	113318707	0.982000	0.34865	0.993000	0.49108	0.533000	0.34776	0.213000	0.17521	-0.254000	0.09500	-0.499000	0.04595	TAC		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		T	113249531	G	T	113249531	4	4	469	1	0	0	0	0	0	1	0	0	3948	1372	48	4	628	4	CSMD3	8	113249531	Nonsense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	45161944	113249531	33114491	17	25512			1	40		2	2	36	N	G_C	5.313724e-05
CSMD3	114788	hgsc.bcm.edu	37	8	113249566	113249566	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:113249566C>A	ENST00000297405.5	-	67	10724	c.10480G>T	c.(10480-10482)Gta>Tta	p.V3494L	CSMD3_ENST00000455883.2_Missense_Mutation_p.V3325L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3454L|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3424L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3494						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGGCAAATACATCATCAGGA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													110	103	105					8																	113249566		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10480G>T	chr8.hg19:g.113249566C>A	ENSP00000297405:p.Val3494Leu		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563747	0.45694	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.33865	1.71;1.7;1.78;1.39;1.76	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000010	T	0.55417	0.1919	M	0.71206	2.165	0.48087	D	0.999581	D;D;B	0.61080	0.989;0.961;0.038	D;P;B	0.63033	0.91;0.741;0.07	T	0.50432	-0.8829	10	0.16896	T	0.51	.	17.9788	0.89134	0.0:1.0:0.0:0.0	.	3325;3494;3454	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3454;3494;2764;3325;3424	ENSP00000345799:V3454L;ENSP00000297405:V3494L;ENSP00000341558:V2764L;ENSP00000412263:V3325L;ENSP00000343124:V3424L	ENSP00000297405:V3494L	V	-	1	0	CSMD3	113318742	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	7.627000	0.83176	2.467000	0.83353	0.467000	0.42956	GTA		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		A	113249566	C	A	113249566	3	1	469	1	0	0	0	0	1	0	0	0	3948	478	17	4	663	4	CSMD3	8	113249566	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	35	113249566	33114456	18	25513			1	40		2	2	36	N	G_C	5.313724e-05
DENND3	22898	hgsc.bcm.edu	37	8	142186773	142186773	+	Silent	SNP	C	C	T	rs374490803		TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:142186773C>T	ENST00000262585.2	+	15	2657	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F	DENND3_ENST00000424248.1_Silent_p.F741F|DENND3_ENST00000519811.1_Silent_p.F873F	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	793					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGAAGTCTTCGAAGCCAACC	0.512																																																0								C		0,4406		0,0,2203	117	105	109		2379	-8	0.4	8		109	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DENND3	NM_014957.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		793/1199	142186773	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22898			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2379C>T	chr8.hg19:g.142186773C>T			B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	hg19	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	9.548	1.115101	0.20795	0.0	2.33E-4	ENSG00000105339	ENST00000518668	.	.	.	5.37	-7.98	0.01135	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.7694	14.5506	0.68065	0.0:0.5424:0.0:0.4576	.	.	.	.	X	798	.	.	R	+	1	2	DENND3	142255955	0.831000	0.29352	0.363000	0.25875	0.894000	0.52154	-0.115000	0.10741	-1.794000	0.01256	-1.124000	0.02001	CGA		0.512	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		T	142186773	C	T	142186773	2	4	469	1	0	0	0	0	0	0	0	1	4434	883	31	1		1	DENND3	8	142186773	Silent	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	28937207	142186773	4177249	19	25514											
FAM83H	286077	hgsc.bcm.edu	37	8	144809117	144809117	+	Silent	SNP	G	G	C			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:144809117G>C	ENST00000388913.3	-	5	2639	c.2514C>G	c.(2512-2514)gcC>gcG	p.A838A		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	838					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTGGCTCTGGGCAGAGAGGA	0.701																																																0													10	11	11					8																	144809117		1984	4151	6135	SO:0001819	synonymous_variant	286077			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2514C>G	chr8.hg19:g.144809117G>C			A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	hg19	CCDS6410.2																																																																																				0.701	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		C	144809117	G	C	144809117	2	2	469	1	0	0	0	0	0	0	0	1	5642	1219	43	4		4	FAM83H	8	144809117	Silent	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	2622344	144809117	1554905	20	25515											
SMARCA2	6595	hgsc.bcm.edu	37	9	2110312	2110312	+	Silent	SNP	C	C	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr9:2110312C>T	ENST00000382203.1	+	24	3560	c.3351C>T	c.(3349-3351)tcC>tcT	p.S1117S	SMARCA2_ENST00000349721.2_Silent_p.S1117S|SMARCA2_ENST00000357248.2_Silent_p.S1117S|SMARCA2_ENST00000382194.1_Silent_p.S1117S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1117	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AACCTGGATCCCAGTATTTCA	0.453																																																0													94	88	90					9																	2110312		2203	4300	6503	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3351C>T	chr9.hg19:g.2110312C>T			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	hg19	CCDS34977.1																																																																																				0.453	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		T	2110312	C	T	2110312	2	4	469	1	0	0	0	0	0	0	0	1	14775	610	22	2		2	SMARCA2	9	2110312	Silent	SNP	C	TCGA-BQ-5893-01A-11D-1589-08		2110312	139103119	21	25516											
FLJ46321	389763	hgsc.bcm.edu	37	9	84607771	84607771	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr9:84607771G>T	ENST00000344803.2	+	4	2433	c.2386G>T	c.(2386-2388)Gat>Tat	p.D796Y		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	796					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCAGACAAGGATCTGAGGTC	0.463																																																0													102	99	100					9																	84607771		1908	4112	6020	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2386G>T	chr9.hg19:g.84607771G>T	ENSP00000341988:p.Asp796Tyr			Missense_Mutation	SNP	ENST00000344803.2	hg19	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664689	0.29604	.	.	ENSG00000214929	ENST00000344803	T	0.07114	3.22	2.85	1.93	0.25924	.	3.256700	0.00687	N	0.000704	T	0.16896	0.0406	L	0.54323	1.7	0.09310	N	1	D	0.57571	0.98	P	0.60012	0.867	T	0.48234	-0.9053	10	0.02654	T	1	1.3602	5.6289	0.17499	0.1558:0.0:0.8442:0.0	.	796	Q6ZQQ2	F75D1_HUMAN	Y	796	ENSP00000341988:D796Y	ENSP00000341988:D796Y	D	+	1	0	FAM75D1	83797591	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.442000	0.21628	0.762000	0.33152	0.462000	0.41574	GAT		0.463	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		T	84607771	G	T	84607771	3	4	469	1	0	0	0	0	1	0	0	0	5934	1174	41	4	2400	4	FLJ46321	9	84607771	Missense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	82497459	84607771	56605660	22	25517											
SVEP1	79987	hgsc.bcm.edu	37	9	113141740	113141740	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr9:113141740T>C	ENST00000401783.2	-	44	10631	c.10295A>G	c.(10294-10296)tAt>tGt	p.Y3432C	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y3409C|SVEP1_ENST00000297826.5_Missense_Mutation_p.Y1358C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3432	Sushi 34. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCCATATTGATAATGTACGCC	0.403																																																0													112	100	104					9																	113141740		1940	4146	6086	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10295A>G	chr9.hg19:g.113141740T>C	ENSP00000384917:p.Tyr3432Cys		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.394554	0.62066	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.69926	-0.44;-0.44;-0.44	5.87	5.87	0.94306	Complement control module (2);Sushi/SCR/CCP (3);	0.240647	0.43416	D	0.000575	D	0.83912	0.5357	M	0.93720	3.45	0.80722	D	1	D	0.69078	0.997	D	0.63113	0.911	D	0.86941	0.2079	10	0.52906	T	0.07	.	11.9508	0.52954	0.1299:0.0:0.0:0.8701	.	3432	Q4LDE5	SVEP1_HUMAN	C	3432;3409;1358	ENSP00000384917:Y3432C;ENSP00000363593:Y3409C;ENSP00000297826:Y1358C	ENSP00000297826:Y1358C	Y	-	2	0	SVEP1	112181561	1.000000	0.71417	0.989000	0.46669	0.666000	0.39218	4.371000	0.59523	2.248000	0.74166	0.533000	0.62120	TAT		0.403	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113141740	T	C	113141740	3	2	469	1	0	0	0	0	1	0	0	0	15425	1406	49	3	440	3	SVEP1	9	113141740	Missense_Mutation	SNP	T	TCGA-BQ-5893-01A-11D-1589-08	28533969	113141740	28071691	23	25518											
OR1B1	347169	hgsc.bcm.edu	37	9	125391500	125391500	+	Silent	SNP	G	G	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr9:125391500G>A	ENST00000304833.3	-	1	352	c.315C>T	c.(313-315)ttC>ttT	p.F105F	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	105						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)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ATGCATAGAAGAAAAAGAACT	0.502																																																0													85	77	79					9																	125391500		2203	4300	6503	SO:0001819	synonymous_variant	347169			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"GPCR / Class A : Olfactory receptors"	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.315C>T	chr9.hg19:g.125391500G>A			Q6IFN3	Silent	SNP	ENST00000304833.3	hg19	CCDS35126.1																																																																																				0.502	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		A	125391500	G	A	125391500	2	1	469	1	0	0	0	0	0	0	0	1	10953	933	33	2		2	OR1B1	9	125391500	Silent	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	12249760	125391500	15821931	24	25519											
OR13A1	79290	hgsc.bcm.edu	37	10	45799786	45799786	+	Missense_Mutation	SNP	C	C	T	rs200530280		TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr10:45799786C>T	ENST00000553795.1	-	4	393	c.85G>A	c.(85-87)Gag>Aag	p.E29K	OR13A1_ENST00000374401.2_Missense_Mutation_p.E29K|OR13A1_ENST00000536058.1_Missense_Mutation_p.E29K	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E29K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGGATGAACTCGGTTACCAAC	0.517																																																1	Substitution - Missense(1)	skin(1)											70	81	77					10																	45799786		2203	4300	6503	SO:0001583	missense	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.85G>A	chr10.hg19:g.45799786C>T	ENSP00000451950:p.Glu29Lys		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	hg19	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	c	10.75	1.438543	0.25900	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.01119	5.31;5.31;5.31	5.09	3.18	0.36537	.	0.350510	0.20650	N	0.088225	T	0.02380	0.0073	M	0.80028	2.48	0.29732	N	0.837839	B	0.25743	0.133	B	0.27715	0.082	T	0.04678	-1.0934	10	0.72032	D	0.01	-21.4609	8.6395	0.33968	0.0:0.7602:0.1539:0.0858	.	29	Q8NGR1	O13A1_HUMAN	K	29	ENSP00000451950:E29K;ENSP00000438657:E29K;ENSP00000363522:E29K	ENSP00000311379:E29K	E	-	1	0	OR13A1	45119792	0.008000	0.16893	0.368000	0.25939	0.065000	0.16274	0.141000	0.16076	0.625000	0.30304	0.603000	0.83216	GAG		0.517	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		T	45799786	C	T	45799786	3	4	469	1	0	0	0	0	1	0	0	0	10935	893	31	1	905	1	OR13A1	10	45799786	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08		45799786	89734961	25	25520											
PPFIBP2	8495	hgsc.bcm.edu	37	11	7618800	7618800	+	Missense_Mutation	SNP	C	C	G	rs17851928		TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr11:7618800C>G	ENST00000299492.4	+	5	770	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V	PPFIBP2_ENST00000533792.1_5'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L16V	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	128				L -> I (in Ref. 2; AAH21714). {ECO:0000305}.	cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGTGAGTGTCCTCACAGACCA	0.512																																																0													63	58	60					11																	7618800		2201	4296	6497	SO:0001583	missense	8495			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.382C>G	chr11.hg19:g.7618800C>G	ENSP00000299492:p.Leu128Val		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	hg19	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718828	0.89205	.	.	ENSG00000166387	ENST00000299492;ENST00000527790;ENST00000541115;ENST00000528883	T;T;T	0.49720	2.55;2.55;0.77	5.5	5.5	0.81552	.	0.000000	0.53938	D	0.000044	T	0.70202	0.3197	M	0.78344	2.41	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.91635	0.999;0.929;0.999;0.997	T	0.72626	-0.4236	10	0.59425	D	0.04	-6.6607	16.8778	0.86056	0.0:1.0:0.0:0.0	.	16;16;51;128	E9PK77;B7Z433;F5GWB0;Q8ND30	.;.;.;LIPB2_HUMAN	V	128;128;51;16	ENSP00000299492:L128V;ENSP00000434981:L128V;ENSP00000435469:L16V	ENSP00000299492:L128V	L	+	1	0	PPFIBP2	7575376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.639000	0.61361	2.600000	0.87896	0.655000	0.94253	CTC		0.512	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		G	7618800	C	G	7618800	3	3	469	1	0	0	0	0	1	0	0	0	12316	681	24	4	396	4	PPFIBP2	11	7618800	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08		7618800	127387716	26	25521											
TTC17	55761	hgsc.bcm.edu	37	11	43380551	43380551	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr11:43380551G>A	ENST00000039989.4	+	1	61	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	RP11-484D2.2_ENST00000526220.1_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.C16Y	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	16					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTGCCGCCTTGCTCCGGCCCA	0.711																																																0													10	13	12					11																	43380551		2188	4280	6468	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.47G>A	chr11.hg19:g.43380551G>A	ENSP00000039989:p.Cys16Tyr		G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	hg19	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759055	0.49468	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.30981	1.51;1.52	5.5	5.5	0.81552	.	0.471757	0.22070	N	0.065056	T	0.13114	0.0318	N	0.08118	0	0.23611	N	0.99729	B;B	0.33379	0.41;0.021	B;B	0.26094	0.066;0.037	T	0.17623	-1.0363	10	0.17832	T	0.49	-0.8355	9.4046	0.38453	0.0:0.1538:0.6866:0.1596	.	16;16	Q96AE7;G3XAB3	TTC17_HUMAN;.	Y	16	ENSP00000299240:C16Y;ENSP00000039989:C16Y	ENSP00000039989:C16Y	C	+	2	0	TTC17	43337127	0.979000	0.34478	0.972000	0.41901	0.951000	0.60555	3.441000	0.52893	2.868000	0.98415	0.555000	0.69702	TGC		0.711	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		A	43380551	G	A	43380551	3	1	469	1	0	0	0	0	1	0	0	0	16689	1319	46	2	49	2	TTC17	11	43380551	Missense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	35761751	43380551	91625965	27	25522											
PICALM	8301	hgsc.bcm.edu	37	11	85714416	85714416	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr11:85714416C>A	ENST00000393346.3	-	9	1034	c.886G>T	c.(886-888)Gca>Tca	p.A296S	PICALM_ENST00000526033.1_Missense_Mutation_p.A296S|PICALM_ENST00000528398.1_Missense_Mutation_p.A245S|PICALM_ENST00000356360.5_Missense_Mutation_p.A296S|PICALM_ENST00000532317.1_Missense_Mutation_p.A296S			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	296					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TACCTGCTTGCAGCTGTAGAA	0.388			T	"MLLT10, MLL"	"TALL, AML, "																																		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													97	93	94					11																	85714416		2203	4299	6502	SO:0001583	missense	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.886G>T	chr11.hg19:g.85714416C>A	ENSP00000377015:p.Ala296Ser		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	hg19	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559328	0.86335	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	M	0.71036	2.16	0.80722	D	1	D;D;B;P	0.69078	0.997;0.968;0.356;0.95	D;P;B;P	0.75020	0.985;0.854;0.178;0.716	T	0.71533	-0.4564	9	.	.	.	-9.5668	19.5037	0.95106	0.0:1.0:0.0:0.0	.	245;296;296;296	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	S	296;296;296;296;245;296	ENSP00000436958:A296S;ENSP00000433846:A296S;ENSP00000377015:A296S;ENSP00000434884:A245S;ENSP00000348718:A296S	.	A	-	1	0	PICALM	85392064	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.596000	0.87737	0.655000	0.94253	GCA		0.388	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		A	85714416	C	A	85714416	3	1	469	1	0	0	0	0	1	0	0	0	11882	710	25	4	1148	4	PICALM	11	85714416	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	42333865	85714416	49292100	28	25523											
SPATA13	221178	hgsc.bcm.edu	37	13	24825881	24825881	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr13:24825881C>A	ENST00000382095.4	+	3	577	c.170C>A	c.(169-171)gCt>gAt	p.A57D	SPATA13_ENST00000382108.3_Missense_Mutation_p.A682D|SPATA13-AS1_ENST00000430733.1_RNA|SPATA13_ENST00000424834.2_Missense_Mutation_p.A682D|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.A560D	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	57					cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCCATGCCTGCTCACCAGGTG	0.622																																																0													60	65	63					13																	24825881		2203	4300	6503	SO:0001583	missense	221178			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.170C>A	chr13.hg19:g.24825881C>A	ENSP00000371527:p.Ala57Asp		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	hg19	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.662502|4.662502	0.88251|0.88251	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694|ENST00000424834	T;T;T|.	0.35789|.	1.29;1.29;1.29|.	5.97|5.97	5.13|5.13	0.70059|0.70059	.|.	0.125113|.	0.56097|.	D|.	0.000034|.	T|.	0.61173|.	0.2326|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P;D;B|.	0.53462|.	0.634;0.96;0.361|.	B;P;B|.	0.48795|.	0.3;0.59;0.074|.	T|.	0.55866|.	-0.8073|.	10|.	0.46703|.	T|.	0.11|.	.|.	13.7166|13.7166	0.62700|0.62700	0.0:0.927:0.0:0.073|0.0:0.927:0.0:0.073	.|.	3;3;57|.	Q96N96-5;Q96N96-4;Q96N96|.	.;.;SPT13_HUMAN|.	D|X	682;57;17;3|719	ENSP00000371542:A682D;ENSP00000371527:A57D;ENSP00000401605:A17D|.	ENSP00000371527:A57D|.	A|C	+|+	2|3	0|2	SPATA13|SPATA13	23723881|23723881	1.000000|1.000000	0.71417|0.71417	0.636000|0.636000	0.29352|0.29352	0.775000|0.775000	0.43874|0.43874	5.552000|5.552000	0.67281|0.67281	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.622	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		A	24825881	C	A	24825881	3	1	469	1	0	0	0	0	1	0	0	0	15005	797	28	4	2055	4	SPATA13	13	24825881	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08		24825881	90343997	29	25524											
SHISA2	387914	hgsc.bcm.edu	37	13	26620708	26620708	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr13:26620708C>G	ENST00000319420.3	-	2	886	c.831G>C	c.(829-831)caG>caC	p.Q277H		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	277					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GGAAGGGGGACTGAATCTGCC	0.567																																																0													104	91	96					13																	26620708		2203	4300	6503	SO:0001583	missense	387914				CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.831G>C	chr13.hg19:g.26620708C>G	ENSP00000313079:p.Gln277His		B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	hg19	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599692	0.66332	.	.	ENSG00000180730	ENST00000319420	T	0.52057	0.68	5.58	4.74	0.60224	.	0.149265	0.46758	D	0.000272	T	0.55924	0.1951	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.60530	-0.7245	10	0.66056	D	0.02	-21.8958	14.6091	0.68504	0.0:0.9296:0.0:0.0704	.	277	Q6UWI4	SHSA2_HUMAN	H	277	ENSP00000313079:Q277H	ENSP00000313079:Q277H	Q	-	3	2	SHISA2	25518708	1.000000	0.71417	0.996000	0.52242	0.854000	0.48673	2.473000	0.45145	1.364000	0.46038	0.650000	0.86243	CAG		0.567	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		G	26620708	C	G	26620708	3	3	469	1	0	0	0	0	1	0	0	0	14286	564	20	4	60	4	SHISA2	13	26620708	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	1794827	26620708	88549170	30	25525											
DENND4A	10260	hgsc.bcm.edu	37	15	65983020	65983020	+	Silent	SNP	C	C	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr15:65983020C>T	ENST00000431932.2	-	22	3988	c.3780G>A	c.(3778-3780)gtG>gtA	p.V1260V	DENND4A_ENST00000443035.3_Silent_p.V1303V|DENND4A_ENST00000567323.1_5'Flank	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1260					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGGTAAGTCTCACTGGCTTAG	0.413																																																0													101	104	103					15																	65983020		1893	4107	6000	SO:0001819	synonymous_variant	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3780G>A	chr15.hg19:g.65983020C>T			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	hg19	CCDS45285.1																																																																																				0.413	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		T	65983020	C	T	65983020	2	4	469	1	0	0	0	0	0	0	0	1	4435	813	29	2		2	DENND4A	15	65983020	Silent	SNP	C	TCGA-BQ-5893-01A-11D-1589-08		65983020	36548372	31	25526											
SIN3A	25942	hgsc.bcm.edu	37	15	75692465	75692465	+	Silent	SNP	C	C	T	rs373830836		TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr15:75692465C>T	ENST00000394947.3	-	12	2084	c.1770G>A	c.(1768-1770)tcG>tcA	p.S590S	SIN3A_ENST00000360439.4_Silent_p.S590S|SIN3A_ENST00000394949.4_Silent_p.S590S	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CCTCAGACCACGAAGGGAAGG	0.393																																																0								C	,,	0,4394		0,0,2197	96	91	93		1770,1770,1770	-12.2	0.2	15		93	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	SIN3A	NM_001145357.1,NM_001145358.1,NM_015477.2	,,	0,1,6490	TT,TC,CC		0.0116,0.0,0.0077	,,	590/1274,590/1274,590/1274	75692465	1,12981	2197	4294	6491	SO:0001819	synonymous_variant	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1770G>A	chr15.hg19:g.75692465C>T				Silent	SNP	ENST00000394947.3	hg19	CCDS10279.1																																																																																				0.393	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		T	75692465	C	T	75692465	2	4	469	1	0	0	0	0	0	0	0	1	14331	523	19	1		1	SIN3A	15	75692465	Silent	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	9709445	75692465	26838927	32	25527											
CIITA	4261	hgsc.bcm.edu	37	16	10992850	10992850	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr16:10992850C>A	ENST00000324288.8	+	5	560	c.427C>A	c.(427-429)Cag>Aag	p.Q143K	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.Q143K	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	143					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCAGAAAAGTCAGAAAAGACG	0.507			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													159	151	154					16																	10992850		2197	4300	6497	SO:0001583	missense	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.427C>A	chr16.hg19:g.10992850C>A	ENSP00000316328:p.Gln143Lys		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	hg19	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446255	0.43429	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.74842	-0.88;1.54	3.81	3.81	0.43845	.	0.428781	0.17282	N	0.179967	T	0.66626	0.2808	L	0.50333	1.59	0.25966	N	0.982563	P;P;B;B;P;B	0.40398	0.649;0.455;0.126;0.126;0.716;0.323	B;B;B;B;B;B	0.36567	0.228;0.094;0.049;0.049;0.228;0.079	T	0.64118	-0.6482	10	0.54805	T	0.06	.	11.3836	0.49771	0.0:1.0:0.0:0.0	.	143;143;143;143;144;143	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	K	143;143;144;143	ENSP00000316328:Q143K;ENSP00000371257:Q143K	ENSP00000316328:Q143K	Q	+	1	0	CIITA	10900351	0.989000	0.36119	0.889000	0.34880	0.900000	0.52787	3.160000	0.50739	2.134000	0.65973	0.557000	0.71058	CAG		0.507	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		A	10992850	C	A	10992850	3	1	469	1	0	0	0	0	1	0	0	0	3430	827	29	4	445	4	CIITA	16	10992850	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08		10992850	79361903	33	25528											
ANKRD11	29123	hgsc.bcm.edu	37	16	89349917	89349917	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr16:89349917C>G	ENST00000301030.4	-	9	3493	c.3033G>C	c.(3031-3033)aaG>aaC	p.K1011N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1011N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1011	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCCATCCTTCTTCTCCTTCT	0.517																																																0													142	139	140					16																	89349917		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3033G>C	chr16.hg19:g.89349917C>G	ENSP00000301030:p.Lys1011Asn		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	hg19	CCDS32513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.26|16.26	3.072498|3.072498	0.55646|0.55646	.|.	.|.	ENSG00000167522|ENSG00000167522	ENST00000301030;ENST00000378330|ENST00000330736	T;T|.	0.54071|.	0.59;0.59|.	5.5|5.5	3.5|3.5	0.40072|0.40072	.|.	0.059984|.	0.64402|.	D|.	0.000004|.	T|T	0.69324|0.69324	0.3098|0.3098	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D|.	0.59767|.	0.986|.	P|.	0.62435|.	0.902|.	T|T	0.71626|0.71626	-0.4536|-0.4536	10|6	0.51188|0.54805	T|T	0.08|0.06	.|.	12.1739|12.1739	0.54173|0.54173	0.0:0.8519:0.0:0.1481|0.0:0.8519:0.0:0.1481	.|.	1011|.	Q6UB99|.	ANR11_HUMAN|.	N|T	1011|562	ENSP00000301030:K1011N;ENSP00000367581:K1011N|.	ENSP00000301030:K1011N|ENSP00000330815:R562T	K|R	-|-	3|2	2|0	ANKRD11|ANKRD11	87877418|87877418	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.198000|0.198000	0.23893|0.23893	4.656000|4.656000	0.61483|0.61483	1.425000|1.425000	0.47237|0.47237	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.517	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		G	89349917	C	G	89349917	3	3	469	1	0	0	0	0	1	0	0	0	639	912	32	4	4978	4	ANKRD11	16	89349917	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08	78357067	89349917	1004836	34	25529											
TP53	7157	hgsc.bcm.edu	37	17	7574002	7574002	+	Missense_Mutation	SNP	C	C	A	rs375338359		TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr17:7574002C>A	ENST00000269305.4	-	10	1214	c.1025G>T	c.(1024-1026)cGa>cTa	p.R342L	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R342L|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.E343fs*3(1)|p.R342fs*3(1)|p.I332fs*5(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)	ATTCAGCTCTCGGAACATCTC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	18	Whole gene deletion(8)|Substitution - Missense(5)|Deletion - Frameshift(3)|Unknown(1)|Deletion - In frame(1)	upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|ovary(2)|large_intestine(1)|stomach(1)											62	48	53					17																	7574002		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1025G>T	chr17.hg19:g.7574002C>A	ENSP00000269305:p.Arg342Leu		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	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.280933	0.23392	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.92595	-3.07;-3.07	5.43	2.35	0.29111	p53, tetramerisation domain (3);	0.217683	0.37906	N	0.001893	D	0.85349	0.5676	L	0.42581	1.335	0.19575	N	0.999965	B	0.10296	0.003	B	0.18871	0.023	T	0.70898	-0.4747	10	0.29301	T	0.29	-0.3792	4.3338	0.11076	0.1588:0.5914:0.0:0.2498	.	342	P04637	P53_HUMAN	L	342;342;331	ENSP00000269305:R342L;ENSP00000391478:R342L	ENSP00000269305:R342L	R	-	2	0	TP53	7514727	0.035000	0.19736	0.264000	0.24511	0.867000	0.49689	-0.268000	0.08607	0.271000	0.22005	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7574002	C	A	7574002	3	1	469	1	0	0	0	0	1	0	0	0	16386	884	31	4	164	4	TP53	17	7574002	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08		7574002	73621208	35	25530											
KIAA1468	57614	hgsc.bcm.edu	37	18	59888685	59888685	+	Silent	SNP	C	C	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr18:59888685C>T	ENST00000398130.2	+	5	1045	c.813C>T	c.(811-813)aaC>aaT	p.N271N	KIAA1468_ENST00000256858.6_Silent_p.N271N	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	271	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.									autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TGAAGAATAACTATAAGCTTA	0.303																																																0													52	49	50					18																	59888685		1803	4062	5865	SO:0001819	synonymous_variant	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.813C>T	chr18.hg19:g.59888685C>T				Silent	SNP	ENST00000398130.2	hg19	CCDS11979.2																																																																																				0.303	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		T	59888685	C	T	59888685	2	4	469	1	0	0	0	0	0	0	0	1	8238	564	20	2		2	KIAA1468	18	59888685	Silent	SNP	C	TCGA-BQ-5893-01A-11D-1589-08		59888685	18188563	36	25531											
RHPN2	85415	hgsc.bcm.edu	37	19	33503622	33503622	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:33503622G>C	ENST00000254260.3	-	5	434	c.399C>G	c.(397-399)atC>atG	p.I133M	RHPN2_ENST00000400226.4_De_novo_Start_InFrame	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	133	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AATGTTCCAGGATAAAATCCT	0.348																																																0													64	63	64					19																	33503622		2203	4300	6503	SO:0001583	missense	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.399C>G	chr19.hg19:g.33503622G>C	ENSP00000254260:p.Ile133Met		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	hg19	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045171	0.36085	.	.	ENSG00000131941	ENST00000254260	T	0.36340	1.26	4.67	-0.356	0.12583	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69316	-0.5177	10	0.87932	D	0	4.3606	9.4837	0.38917	0.5257:0.0:0.4743:0.0	.	133	Q8IUC4	RHPN2_HUMAN	M	133	ENSP00000254260:I133M	ENSP00000254260:I133M	I	-	3	3	RHPN2	38195462	1.000000	0.71417	0.998000	0.56505	0.408000	0.30992	0.918000	0.28678	0.003000	0.14656	0.455000	0.32223	ATC		0.348	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		C	33503622	G	C	33503622	3	2	469	1	0	0	0	0	1	0	0	0	13357	1164	41	4	1705	4	RHPN2	19	33503622	Missense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08		33503622	25625361	37	25532											
KIAA0355	9710	hgsc.bcm.edu	37	19	34832921	34832921	+	Silent	SNP	G	G	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:34832921G>A	ENST00000299505.6	+	10	2955	c.2082G>A	c.(2080-2082)ctG>ctA	p.L694L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	694										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGCCGTCACTGCCTGTGCCCC	0.632																																																0													69	72	71					19																	34832921		2203	4299	6502	SO:0001819	synonymous_variant	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2082G>A	chr19.hg19:g.34832921G>A			Q2M3W4	Silent	SNP	ENST00000299505.6	hg19	CCDS12436.1																																																																																				0.632	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		A	34832921	G	A	34832921	2	1	469	1	0	0	0	0	0	0	0	1	8172	1306	46	2		2	KIAA0355	19	34832921	Silent	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	1329299	34832921	24296062	38	25533											
TMEM149	79713	hgsc.bcm.edu	37	19	36230750	36230750	+	Silent	SNP	G	G	C			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:36230750G>C	ENST00000592537.1	-	4	682	c.582C>G	c.(580-582)gcC>gcG	p.A194A	IGFLR1_ENST00000246532.1_Silent_p.A194A|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Intron|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000344990.3_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GATAGGGGTCGGCTTTCTCCT	0.617																																																0													88	91	90					19																	36230750		2203	4300	6503	SO:0001819	synonymous_variant	79713			AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 4", "transmembrane protein 149"	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.582C>G	chr19.hg19:g.36230750G>C			Q8N5X0	Silent	SNP	ENST00000592537.1	hg19	CCDS12472.1																																																																																				0.617	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		C	36230750	G	C	36230750	2	2	469	1	0	0	0	0	0	0	0	1	16067	1103	39	4		4	TMEM149	19	36230750	Silent	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	1397829	36230750	22898233	39	25534											
CNFN	84518	hgsc.bcm.edu	37	19	42893120	42893120	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:42893120A>G	ENST00000222032.5	-	2	119	c.70T>C	c.(70-72)Tgg>Cgg	p.W24R	CNFN_ENST00000597255.1_Missense_Mutation_p.W24R	NM_032488.3	NP_115877.2	Q9BYD5	CNFN_HUMAN	cornifelin	24					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				lung(1)|prostate(1)	2		Prostate(69;0.00899)				CCTGTGTGCCAGTCACTGAGC	0.617																																																0													133	99	111					19																	42893120		2203	4300	6503	SO:0001583	missense	84518			AB049591	CCDS12606.1	19q13.31	2006-01-11				ENSG00000105427			30183	protein-coding gene	gene with protein product		611764					Standard	NM_032488		Approved	PLAC8L2	uc002otp.4	Q9BYD5		ENST00000222032.5:c.70T>C	chr19.hg19:g.42893120A>G	ENSP00000222032:p.Trp24Arg		B2R569	Missense_Mutation	SNP	ENST00000222032.5	hg19	CCDS12606.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.244613	0.59103	.	.	ENSG00000105427	ENST00000222032	T	0.29655	1.56	5.0	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	M	0.89658	3.05	0.46078	D	0.998858	D	0.56746	0.977	P	0.56612	0.802	T	0.60702	-0.7211	10	0.72032	D	0.01	-18.0017	10.0235	0.42057	0.8298:0.1702:0.0:0.0	.	24	Q9BYD5	CNFN_HUMAN	R	24	ENSP00000222032:W24R	ENSP00000222032:W24R	W	-	1	0	CNFN	47584960	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.707000	0.68370	0.847000	0.35167	-0.471000	0.05019	TGG		0.617	CNFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463859.1	NM_032488		G	42893120	A	G	42893120	3	3	469	1	0	0	0	0	1	0	0	0	3597	188	7	3	280	3	CNFN	19	42893120	Missense_Mutation	SNP	A	TCGA-BQ-5893-01A-11D-1589-08	6662370	42893120	16235863	40	25535											
DMPK	1760	hgsc.bcm.edu	37	19	46280763	46280763	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:46280763G>A	ENST00000291270.4	-	8	1093	c.968C>T	c.(967-969)aCa>aTa	p.T323I	DMPK_ENST00000343373.4_Missense_Mutation_p.T333I|DMPK_ENST00000458663.2_Missense_Mutation_p.T323I|DMPK_ENST00000600757.1_Missense_Mutation_p.T333I|DMPK_ENST00000354227.5_Missense_Mutation_p.T323I|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000447742.2_Missense_Mutation_p.T323I	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCCCAGCCGTGTCTCCGGGGG	0.647																																					Esophageal Squamous(35;307 869 9153 24033 28903)											0													39	41	40					19																	46280763		2203	4300	6503	SO:0001583	missense	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.968C>T	chr19.hg19:g.46280763G>A	ENSP00000291270:p.Thr323Ile		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	hg19	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	g	6.239	0.412186	0.11812	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.63	-1.42	0.08913	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.960065	0.08582	N	0.924432	T	0.47985	0.1475	L	0.48935	1.535	0.09310	N	1	B;B;B;B;B;B;B;B	0.10296	0.001;0.0;0.003;0.001;0.001;0.001;0.001;0.0	B;B;B;B;B;B;B;B	0.12156	0.005;0.002;0.003;0.007;0.007;0.004;0.001;0.001	T	0.31392	-0.9945	10	0.21014	T	0.42	.	4.9214	0.13871	0.5892:0.0:0.2497:0.1611	.	323;323;349;323;323;323;370;333	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	I	323;349;323;323;323;333;333;323	ENSP00000401753:T323I;ENSP00000291270:T323I;ENSP00000413417:T323I;ENSP00000345997:T333I;ENSP00000346168:T323I	ENSP00000291270:T323I	T	-	2	0	DMPK	50972603	0.000000	0.05858	0.091000	0.20842	0.655000	0.38815	-1.221000	0.02968	-0.044000	0.13491	-0.254000	0.11334	ACA		0.647	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		A	46280763	G	A	46280763	3	1	469	1	0	0	0	0	1	0	0	0	4586	1377	48	2	960	2	DMPK	19	46280763	Missense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	3387643	46280763	12848220	41	25536											
PRKCG	5582	hgsc.bcm.edu	37	19	54385815	54385815	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:54385815G>T	ENST00000263431.3	+	1	349	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	PRKCG_ENST00000540413.1_Missense_Mutation_p.G23W|PRKCG_ENST00000536044.1_Missense_Mutation_p.G23W|PRKCG_ENST00000542049.1_5'Flank	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	23					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TTGCAGAAAGGGGGCCCTGAG	0.627																																																0													66	74	71					19																	54385815		2203	4300	6503	SO:0001583	missense	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.67G>T	chr19.hg19:g.54385815G>T	ENSP00000263431:p.Gly23Trp		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	hg19	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929442	0.73327	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	D;D;D	0.95069	-3.6;-3.6;-3.6	4.08	4.08	0.47627	.	.	.	.	.	D	0.96830	0.8965	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.97398	0.9994	9	0.87932	D	0	.	14.1554	0.65415	0.0:0.0:1.0:0.0	.	23;23;23;23	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	W	23;23;23;46	ENSP00000440541:G23W;ENSP00000443493:G23W;ENSP00000263431:G23W	ENSP00000263431:G23W	G	+	1	0	PRKCG	59077627	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.851000	0.92205	1.996000	0.58369	0.491000	0.48974	GGG		0.627	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		T	54385815	G	T	54385815	3	4	469	1	0	0	0	0	1	0	0	0	12517	1232	43	4	69	4	PRKCG	19	54385815	Missense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	8105052	54385815	4743168	42	25537											
KIR3DL3	115653	hgsc.bcm.edu	37	19	55239373	55239373	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:55239373G>A	ENST00000291860.1	+	4	670	c.652G>A	c.(652-654)Gta>Ata	p.V218I	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CATCGTGGTCGTAGGTGAGAG	0.542																																																0													8	8	8					19																	55239373		1846	3121	4967	SO:0001583	missense	115653			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.652G>A	chr19.hg19:g.55239373G>A	ENSP00000291860:p.Val218Ile		A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	hg19	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	-	4.693	0.128795	0.08981	.	.	ENSG00000242019	ENST00000291860	T	0.00730	5.77	1.38	0.293	0.15742	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.958988	0.08407	N	0.950530	T	0.00328	0.0010	N	0.00436	-1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44345	-0.9334	10	0.45353	T	0.12	.	4.3253	0.11038	0.5511:0.0:0.4489:0.0	.	218	Q8N743	KI3L3_HUMAN	I	218	ENSP00000291860:V218I	ENSP00000291860:V218I	V	+	1	0	KIR3DL3	59931185	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	-0.697000	0.05098	-0.402000	0.07633	-1.140000	0.01884	GTA		0.542	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		A	55239373	G	A	55239373	3	1	469	1	0	0	0	0	1	0	0	0	8324	1145	40	1	666	1	KIR3DL3	19	55239373	Missense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08	853558	55239373	3889610	43	25538											
SAMHD1	25939	hgsc.bcm.edu	37	20	35563508	35563508	+	Missense_Mutation	SNP	G	G	C	rs121434517		TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr20:35563508G>C	ENST00000262878.4	-	4	632	c.433C>G	c.(433-435)Cga>Gga	p.R145G	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	145			R -> Q (in AGS5). {ECO:0000269|PubMed:19525956}.		dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGATGTATCGAAGACGTTGA	0.433																																																0													135	125	129					20																	35563508		2203	4300	6503	SO:0001583	missense	25939			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.433C>G	chr20.hg19:g.35563508G>C	ENSP00000262878:p.Arg145Gly		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	hg19	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343156	0.82022	.	.	ENSG00000101347	ENST00000262878	D	0.96522	-4.04	6.05	4.04	0.47022	HD domain (1);	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98576	1.0648	10	0.87932	D	0	-16.0364	9.3019	0.37851	0.0657:0.0:0.6789:0.2553	.	145	Q9Y3Z3	SAMH1_HUMAN	G	145	ENSP00000262878:R145G	ENSP00000262878:R145G	R	-	1	2	SAMHD1	34996922	1.000000	0.71417	0.967000	0.41034	0.983000	0.72400	3.147000	0.50639	1.571000	0.49722	0.650000	0.86243	CGA		0.433	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		C	35563508	G	C	35563508	3	2	469	1	0	0	0	0	1	0	0	0	13834	1066	37	4	1499	4	SAMHD1	20	35563508	Missense_Mutation	SNP	G	TCGA-BQ-5893-01A-11D-1589-08		35563508	27462012	44	25539											
EIF1AX	1964	hgsc.bcm.edu	37	X	20152121	20152121	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chrX:20152121C>A	ENST00000379607.5	-	4	412	c.209G>T	c.(208-210)tGg>tTg	p.W70L	EIF1AX_ENST00000379593.1_Missense_Mutation_p.W42L|snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	70	S1-like.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						GGTATTTATCCAAACCTACAA	0.323																																																0													56	47	50					X																	20152121		2203	4300	6503	SO:0001583	missense	1964			L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.209G>T	chrX.hg19:g.20152121C>A	ENSP00000368927:p.Trp70Leu		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	hg19	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803652	0.90623	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	T;T	0.58652	0.32;0.32	5.64	5.64	0.86602	Nucleic acid-binding, OB-fold-like (1);RNA-binding domain, S1, IF1 type (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	D	0.86653	0.5984	H	0.99090	4.425	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.92362	0.5898	9	0.87932	D	0	-3.1686	16.8722	0.86043	0.0:1.0:0.0:0.0	.	70	P47813	IF1AX_HUMAN	L	70;42	ENSP00000368927:W70L;ENSP00000368912:W42L	ENSP00000368912:W42L	W	-	2	0	EIF1AX	20062042	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.076000	0.76806	2.361000	0.80049	0.600000	0.82982	TGG		0.323	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			A	20152121	C	A	20152121	3	1	469	1	0	0	0	0	1	0	0	0	4994	595	21	4	241	4	EIF1AX	23	20152121	Missense_Mutation	SNP	C	TCGA-BQ-5893-01A-11D-1589-08		20152121	135118439	45	25540											
GPR34	2857	hgsc.bcm.edu	37	X	41555435	41555435	+	Silent	SNP	T	T	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chrX:41555435T>A	ENST00000378142.4	+	3	833	c.549T>A	c.(547-549)ctT>ctA	p.L183L	CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Silent_p.L183L|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	183					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TGCTTGCTCTTGGTGGATTCC	0.353																																																0													63	59	60					X																	41555435		2203	4300	6503	SO:0001819	synonymous_variant	2857			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.549T>A	chrX.hg19:g.41555435T>A			O95853	Silent	SNP	ENST00000378142.4	hg19	CCDS14258.1																																																																																				0.353	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		A	41555435	T	A	41555435	2	1	469	1	0	0	0	0	0	0	0	1	6691	1799	63	5		5	GPR34	23	41555435	Silent	SNP	T	TCGA-BQ-5893-01A-11D-1589-08	21403314	41555435	113715125	46	25541											
BCORL1	63035	hgsc.bcm.edu	37	X	129173153	129173154	+	Frame_Shift_Ins	INS	-	-	CTGG			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chrX:129173153_129173154insCTGG	ENST00000218147.7	+	10	4711_4712	c.4514_4515insCTGG	c.(4513-4518)atctggfs	p.-1509fs	BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.-1583fs|BCORL1_ENST00000540052.1_Frame_Shift_Ins_p.-1509fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.-1379fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTGGAGACCATCTGGCTCCTGC	0.574																																																0																																										SO:0001589	frameshift_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4515_4518dupCTGG	chrX.hg19:g.129173154_129173157dupCTGG	ENSP00000218147:p.Leu1509fs		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Ins	INS	ENST00000218147.7	hg19	CCDS14616.1																																																																																				0.574	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		CTGG	129173154	-	CTGG	129173153	7	5	469	1	0	1	1	0	0	0	0	0	1387	1435	50	0	4774	0	BCORL1	23	129173153	Frame_Shift_Ins	INS	-	TCGA-BQ-5893-01A-11D-1589-08	87617718	129173153	26097407	47	25542											
DUSP12	11266	hgsc.bcm.edu	37	1	161726704	161726704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr1:161726704delG	ENST00000367943.4	+	6	1022	c.990delG	c.(988-990)ttgfs	p.L330fs		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	330					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGAAAATATTGCCTGTTTTGG	0.373																																																0																																										SO:0001589	frameshift_variant	11266			AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3067	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.990delG	chr1.hg19:g.161726704delG	ENSP00000356920:p.Leu330fs		Q5VXA8	Frame_Shift_Del	DEL	ENST00000367943.4	hg19	CCDS1234.1																																																																																				0.373	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240		-	161726704	G	-	161726704	7	5	470	1	0	1	0	1	0	0	0	0	4814	1310	46	0	1012	0	DUSP12	1	161726704	Frame_Shift_Del	DEL	G	TCGA-BQ-5894-01A-11D-1589-08		161726704	87523917	1	25543											
PLXNA2	5362	hgsc.bcm.edu	37	1	208270156	208270156	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr1:208270156C>A	ENST00000367033.3	-	7	2561	c.1804G>T	c.(1804-1806)Gtg>Ttg	p.V602L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	602					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCCCCTCCACCTCTGTCAGG	0.562																																																0													76	63	67					1																	208270156		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1804G>T	chr1.hg19:g.208270156C>A	ENSP00000356000:p.Val602Leu		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764098	0.31228	.	.	ENSG00000076356	ENST00000367033	T	0.00856	5.61	4.92	4.92	0.64577	.	0.309702	0.38837	N	0.001558	T	0.01695	0.0054	L	0.57536	1.79	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.61272	-0.7096	10	0.22109	T	0.4	.	18.3153	0.90218	0.0:1.0:0.0:0.0	.	602	O75051	PLXA2_HUMAN	L	602	ENSP00000356000:V602L	ENSP00000356000:V602L	V	-	1	0	PLXNA2	206336779	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.321000	0.65846	2.563000	0.86464	0.655000	0.94253	GTG		0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		A	208270156	C	A	208270156	3	1	470	1	0	0	0	0	1	0	0	0	12122	507	18	4	3984	4	PLXNA2	1	208270156	Missense_Mutation	SNP	C	TCGA-BQ-5894-01A-11D-1589-08	46543452	208270156	40980465	2	25544											
MBD5	55777	hgsc.bcm.edu	37	2	149226038	149226038	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr2:149226038A>G	ENST00000407073.1	+	9	1523	c.526A>G	c.(526-528)Aat>Gat	p.N176D	MBD5_ENST00000404807.1_Missense_Mutation_p.N176D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	176					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGGATCATCAAATGCCATGGG	0.423																																																0													77	73	74					2																	149226038		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.526A>G	chr2.hg19:g.149226038A>G	ENSP00000386049:p.Asn176Asp		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	hg19	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227484	0.58668	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.45668	0.89;0.89	5.16	5.16	0.70880	.	0.088275	0.49305	D	0.000155	T	0.30070	0.0753	N	0.08118	0	0.33054	D	0.533103	D	0.56968	0.978	P	0.47528	0.549	T	0.43015	-0.9417	10	0.40728	T	0.16	-3.4654	13.8586	0.63545	1.0:0.0:0.0:0.0	.	176	Q9P267	MBD5_HUMAN	D	176	ENSP00000386049:N176D;ENSP00000384672:N176D	ENSP00000384672:N176D	N	+	1	0	MBD5	148942508	1.000000	0.71417	0.909000	0.35828	0.972000	0.66771	4.483000	0.60264	2.079000	0.62486	0.482000	0.46254	AAT		0.423	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			G	149226038	A	G	149226038	3	3	470	1	0	0	0	0	1	0	0	0	9349	14	1	3	540	3	MBD5	2	149226038	Missense_Mutation	SNP	A	TCGA-BQ-5894-01A-11D-1589-08		149226038	93973335	3	25545											
CYTIP	9595	hgsc.bcm.edu	37	2	158287080	158287080	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr2:158287080T>C	ENST00000264192.3	-	5	588	c.467A>G	c.(466-468)aAc>aGc	p.N156S	CYTIP_ENST00000540637.1_Missense_Mutation_p.N50S|CYTIP_ENST00000497432.1_5'Flank	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	156	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CGTTAGCAGGTTTCCGGACGA	0.428																																																0													173	152	159					2																	158287080		2203	4300	6503	SO:0001583	missense	9595			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.467A>G	chr2.hg19:g.158287080T>C	ENSP00000264192:p.Asn156Ser		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	hg19	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427467	0.62733	.	.	ENSG00000115165	ENST00000264192;ENST00000540637;ENST00000418920	T;T;T	0.24908	1.83;1.83;1.83	5.87	4.71	0.59529	PDZ/DHR/GLGF (4);	0.040138	0.85682	N	0.000000	T	0.34366	0.0895	N	0.26162	0.8	0.40568	D	0.981273	D	0.61080	0.989	D	0.77557	0.99	T	0.15838	-1.0423	10	0.59425	D	0.04	-24.1417	8.8383	0.35126	0.0:0.0847:0.0:0.9153	.	156	O60759	CYTIP_HUMAN	S	156;50;50	ENSP00000264192:N156S;ENSP00000440801:N50S;ENSP00000394308:N50S	ENSP00000264192:N156S	N	-	2	0	CYTIP	157995326	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	2.314000	0.43743	1.149000	0.42402	0.533000	0.62120	AAC		0.428	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		C	158287080	T	C	158287080	3	2	470	1	0	0	0	0	1	0	0	0	4209	1725	60	3	628	3	CYTIP	2	158287080	Missense_Mutation	SNP	T	TCGA-BQ-5894-01A-11D-1589-08	9061042	158287080	84912293	4	25546											
PDZD2	23037	hgsc.bcm.edu	37	5	32108131	32108131	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr5:32108131A>G	ENST00000438447.1	+	25	8798	c.8410A>G	c.(8410-8412)Aat>Gat	p.N2804D	CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000282493.3_Missense_Mutation_p.N2804D|PDZD2_ENST00000513490.1_3'UTR			O15018	PDZD2_HUMAN	PDZ domain containing 2	2804	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCTTGCTATTAATGGGAAACC	0.403																																																0													134	139	137					5																	32108131		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.8410A>G	chr5.hg19:g.32108131A>G	ENSP00000402033:p.Asn2804Asp		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	hg19	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233379	0.79688	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.56776	0.44;0.44	5.88	5.88	0.94601	PDZ/DHR/GLGF (4);	0.097034	0.45867	D	0.000337	T	0.59742	0.2216	L	0.41415	1.275	0.35013	D	0.757058	D	0.76494	0.999	D	0.71870	0.975	T	0.68269	-0.5453	10	0.39692	T	0.17	.	8.7229	0.34452	0.9164:0.0:0.0836:0.0	.	2804	O15018	PDZD2_HUMAN	D	2804;2605;2804	ENSP00000402033:N2804D;ENSP00000282493:N2804D	ENSP00000282493:N2804D	N	+	1	0	PDZD2	32143888	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	3.761000	0.55242	2.242000	0.73789	0.533000	0.62120	AAT		0.403	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			G	32108131	A	G	32108131	3	3	470	1	0	0	0	0	1	0	0	0	11703	362	13	3	8504	3	PDZD2	5	32108131	Missense_Mutation	SNP	A	TCGA-BQ-5894-01A-11D-1589-08		32108131	148807129	5	25547											
SLIT3	6586	hgsc.bcm.edu	37	5	168098301	168098301	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr5:168098301G>C	ENST00000519560.1	-	34	4448	c.4029C>G	c.(4027-4029)tgC>tgG	p.C1343W	SLIT3_ENST00000332966.8_Missense_Mutation_p.C1350W|SLIT3_ENST00000404867.3_Missense_Mutation_p.C1343W	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1343	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.C1343*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACGGAGCGGCACAGGCCGT	0.677																																					Ovarian(29;311 847 10864 17279 24903)											1	Substitution - Nonsense(1)	lung(1)											43	35	37					5																	168098301		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4029C>G	chr5.hg19:g.168098301G>C	ENSP00000430333:p.Cys1343Trp		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	hg19	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692168	0.48202	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.82433	-1.6;-1.61;-1.59	5.16	-3.59	0.04583	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91952	0.7451	H	0.95004	3.61	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.91550	0.5256	10	0.72032	D	0.01	.	15.2185	0.73288	0.6215:0.0:0.3785:0.0	.	1343	O75094	SLIT3_HUMAN	W	1343;1350;1343	ENSP00000430333:C1343W;ENSP00000332164:C1350W;ENSP00000384890:C1343W	ENSP00000332164:C1350W	C	-	3	2	SLIT3	168030879	0.999000	0.42202	0.356000	0.25785	0.910000	0.53928	0.533000	0.23082	-0.956000	0.03631	-1.598000	0.00824	TGC		0.677	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		C	168098301	G	C	168098301	3	2	470	1	0	0	0	0	1	0	0	0	14747	1195	42	4	554	4	SLIT3	5	168098301	Missense_Mutation	SNP	G	TCGA-BQ-5894-01A-11D-1589-08	135990170	168098301	12816959	6	25548											
GMDS	2762	hgsc.bcm.edu	37	6	1930387	1930387	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr6:1930387C>T	ENST00000380815.4	-	7	990	c.721G>A	c.(721-723)Gga>Aga	p.G241R	GMDS_ENST00000530927.1_Missense_Mutation_p.G211R	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	241					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCAGATTTCCCAAACTGAAA	0.408																																																0													143	124	131					6																	1930387		2203	4300	6503	SO:0001583	missense	2762			AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.721G>A	chr6.hg19:g.1930387C>T	ENSP00000370194:p.Gly241Arg		E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	hg19	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953109	0.92660	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.95656	-3.77;-3.77	5.63	5.63	0.86233	NAD-dependent epimerase/dehydratase (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99198	1.0872	10	0.87932	D	0	-19.5481	19.6914	0.96002	0.0:1.0:0.0:0.0	.	241	O60547	GMDS_HUMAN	R	211;241	ENSP00000436726:G211R;ENSP00000370194:G241R	ENSP00000370194:G241R	G	-	1	0	GMDS	1875386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.644000	0.89710	0.563000	0.77884	GGA		0.408	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			T	1930387	C	T	1930387	3	4	470	1	0	0	0	0	1	0	0	0	6488	632	22	2	417	2	GMDS	6	1930387	Missense_Mutation	SNP	C	TCGA-BQ-5894-01A-11D-1589-08		1930387	169184680	7	25549											
MEP1A	4224	hgsc.bcm.edu	37	6	46801054	46801054	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr6:46801054A>G	ENST00000230588.4	+	11	1397	c.1388A>G	c.(1387-1389)gAg>gGg	p.E463G		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	463	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TACAATTCGGAGGGATATGGT	0.498																																																0													74	76	75					6																	46801054		2203	4300	6503	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1388A>G	chr6.hg19:g.46801054A>G	ENSP00000230588:p.Glu463Gly		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	hg19	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.965894	0.53507	.	.	ENSG00000112818	ENST00000230588	T	0.42900	0.96	5.72	5.72	0.89469	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73269	-0.4036	10	0.72032	D	0.01	-31.3608	15.9995	0.80280	1.0:0.0:0.0:0.0	.	491;463	B7ZL91;Q16819	.;MEP1A_HUMAN	G	463	ENSP00000230588:E463G	ENSP00000230588:E463G	E	+	2	0	MEP1A	46909013	1.000000	0.71417	0.998000	0.56505	0.073000	0.16967	9.339000	0.96797	2.186000	0.69663	0.528000	0.53228	GAG		0.498	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		G	46801054	A	G	46801054	3	3	470	1	0	0	0	0	1	0	0	0	9477	304	11	3	1430	3	MEP1A	6	46801054	Missense_Mutation	SNP	A	TCGA-BQ-5894-01A-11D-1589-08	44870667	46801054	124314013	8	25550											
OPN5	221391	hgsc.bcm.edu	37	6	47754339	47754339	+	Silent	SNP	C	C	A			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr6:47754339C>A	ENST00000371211.2	+	2	247	c.219C>A	c.(217-219)atC>atA	p.I73I	OPN5_ENST00000489301.2_Silent_p.I73I|OPN5_ENST00000393699.2_Silent_p.I73I	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	73					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.I73I(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TAATGACTATCAATTTAGCAG	0.403																																					Melanoma(28;740 973 10870 42660 45347)											1	Substitution - coding silent(1)	lung(1)											139	128	132					6																	47754339		2203	4300	6503	SO:0001819	synonymous_variant	221391			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.219C>A	chr6.hg19:g.47754339C>A			A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	ENST00000371211.2	hg19	CCDS4923.1																																																																																				0.403	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		A	47754339	C	A	47754339	2	1	470	1	0	0	0	0	0	0	0	1	10885	816	29	4		4	OPN5	6	47754339	Silent	SNP	C	TCGA-BQ-5894-01A-11D-1589-08	953285	47754339	123360728	9	25551											
COL19A1	1310	hgsc.bcm.edu	37	6	70639518	70639518	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr6:70639518G>T	ENST00000322773.4	+	6	694	c.592G>T	c.(592-594)Gat>Tat	p.D198Y		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	198	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAGGCAGACTGATGAAAAGGA	0.423																																																0													111	106	108					6																	70639518		2203	4300	6503	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.592G>T	chr6.hg19:g.70639518G>T	ENSP00000316030:p.Asp198Tyr		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	hg19	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	3.418	-0.118699	0.06838	.	.	ENSG00000082293	ENST00000322773	T	0.02525	4.26	5.64	3.86	0.44501	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.564051	0.17635	N	0.167232	T	0.01800	0.0057	L	0.50333	1.59	0.80722	D	1	P	0.52842	0.956	B	0.41723	0.365	T	0.57648	-0.7775	10	0.66056	D	0.02	.	11.8431	0.52366	0.1408:0.0:0.8592:0.0	.	198	Q14993	COJA1_HUMAN	Y	198	ENSP00000316030:D198Y	ENSP00000316030:D198Y	D	+	1	0	COL19A1	70696239	0.997000	0.39634	0.001000	0.08648	0.020000	0.10135	5.263000	0.65507	0.732000	0.32470	0.655000	0.94253	GAT		0.423	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			T	70639518	G	T	70639518	3	4	470	1	0	0	0	0	1	0	0	0	3678	1290	45	4	610	4	COL19A1	6	70639518	Missense_Mutation	SNP	G	TCGA-BQ-5894-01A-11D-1589-08	22885179	70639518	100475549	10	25552											
KIAA2026	158358	hgsc.bcm.edu	37	9	5922386	5922386	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr9:5922386T>G	ENST00000399933.3	-	8	3609	c.3610A>C	c.(3610-3612)Agc>Cgc	p.S1204R	KIAA2026_ENST00000381461.2_Missense_Mutation_p.S1174R	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1204										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCACTCTGGCTAGTCTTAACT	0.453																																																0													115	112	113					9																	5922386		2013	4183	6196	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3610A>C	chr9.hg19:g.5922386T>G	ENSP00000382815:p.Ser1204Arg		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	hg19		.	.	.	.	.	.	.	.	.	.	T	14.67	2.603738	0.46423	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.99	4.99	0.66335	.	0.365571	0.26975	N	0.021550	T	0.30665	0.0772	L	0.27053	0.805	0.28046	N	0.933557	P	0.35908	0.527	B	0.35470	0.203	T	0.32214	-0.9915	9	0.62326	D	0.03	-2.703	11.277	0.49172	0.1362:0.0:0.0:0.8638	.	1204	Q5HYC2	K2026_HUMAN	R	1204;1174	.	ENSP00000370870:S1174R	S	-	1	0	KIAA2026	5912386	0.984000	0.35163	0.997000	0.53966	0.663000	0.39108	3.354000	0.52254	2.102000	0.63906	0.454000	0.30748	AGC		0.453	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		G	5922386	T	G	5922386	3	3	470	1	0	0	0	0	1	0	0	0	8272	1522	53	5	2705	5	KIAA2026	9	5922386	Missense_Mutation	SNP	T	TCGA-BQ-5894-01A-11D-1589-08		5922386	135291045	11	25553											
STAM	8027	hgsc.bcm.edu	37	10	17747670	17747670	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr10:17747670T>A	ENST00000377524.3	+	12	1354	c.1139T>A	c.(1138-1140)aTg>aAg	p.M380K	STAM_ENST00000540523.1_Missense_Mutation_p.M269K	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	380	ITAM.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GAAGATCCGATGTATTCCATG	0.368																																																0													160	153	156					10																	17747670		2203	4300	6503	SO:0001583	missense	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1139T>A	chr10.hg19:g.17747670T>A	ENSP00000366746:p.Met380Lys		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	hg19	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.077571	0.55753	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.38722	1.47;1.12	5.64	4.49	0.54785	.	0.132590	0.64402	D	0.000002	T	0.33089	0.0851	L	0.48642	1.525	0.52501	D	0.999957	P;B	0.36048	0.534;0.173	B;B	0.32211	0.142;0.031	T	0.11494	-1.0585	10	0.28530	T	0.3	-5.6897	11.8463	0.52387	0.0:0.0697:0.0:0.9303	.	269;380	B4DZT2;Q92783	.;STAM1_HUMAN	K	380;269	ENSP00000366746:M380K;ENSP00000438073:M269K	ENSP00000366746:M380K	M	+	2	0	STAM	17787676	1.000000	0.71417	0.968000	0.41197	0.992000	0.81027	7.698000	0.84413	2.152000	0.67230	0.533000	0.62120	ATG		0.368	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		A	17747670	T	A	17747670	3	1	470	1	0	0	0	0	1	0	0	0	15253	1464	51	5	1185	5	STAM	10	17747670	Missense_Mutation	SNP	T	TCGA-BQ-5894-01A-11D-1589-08		17747670	117787077	12	25554											
OR52N5	390075	hgsc.bcm.edu	37	11	5799428	5799428	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr11:5799428G>T	ENST00000317093.2	-	1	469	c.437C>A	c.(436-438)aCc>aAc	p.T146N	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GATAGGGTTGGTGAGTGTGGT	0.507																																																0													146	115	126					11																	5799428		2125	4095	6220	SO:0001583	missense	390075			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"GPCR / Class A : Olfactory receptors"	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.437C>A	chr11.hg19:g.5799428G>T	ENSP00000322866:p.Thr146Asn		B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	hg19	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245082	0.39697	.	.	ENSG00000181009	ENST00000317093	T	0.01051	5.4	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31697	U	0.007215	T	0.04048	0.0113	L	0.50919	1.6	0.38487	D	0.947868	D	0.62365	0.991	D	0.65010	0.931	T	0.54715	-0.8252	10	0.51188	T	0.08	.	14.1011	0.65056	0.0:0.0:1.0:0.0	.	146	Q8NH56	O52N5_HUMAN	N	146	ENSP00000322866:T146N	ENSP00000322866:T146N	T	-	2	0	OR52N5	5756004	0.994000	0.37717	0.771000	0.31576	0.554000	0.35429	2.842000	0.48230	1.952000	0.56665	0.494000	0.49563	ACC		0.507	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		T	5799428	G	T	5799428	3	4	470	1	0	0	0	0	1	0	0	0	11132	1261	44	4	541	4	OR52N5	11	5799428	Missense_Mutation	SNP	G	TCGA-BQ-5894-01A-11D-1589-08		5799428	129207088	13	25555											
BUD13	84811	hgsc.bcm.edu	37	11	116633298	116633298	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr11:116633298A>G	ENST00000260210.4	-	4	1030	c.1007T>C	c.(1006-1008)tTt>tCt	p.F336S	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	336					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTTGTCTCCAAAATGGGATTT	0.443																																																0													134	120	125					11																	116633298		2201	4296	6497	SO:0001583	missense	84811			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1007T>C	chr11.hg19:g.116633298A>G	ENSP00000260210:p.Phe336Ser		A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	hg19	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.503865	0.44558	.	.	ENSG00000137656	ENST00000260210	T	0.16597	2.33	4.83	-1.94	0.07571	.	1.189750	0.05897	N	0.629384	T	0.12008	0.0292	L	0.31926	0.97	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.41502	-0.9505	10	0.87932	D	0	-0.611	3.4276	0.07416	0.4025:0.0:0.1998:0.3978	.	336;336	A8K4Z6;Q9BRD0	.;BUD13_HUMAN	S	336	ENSP00000260210:F336S	ENSP00000260210:F336S	F	-	2	0	BUD13	116138508	0.000000	0.05858	0.276000	0.24689	0.974000	0.67602	0.121000	0.15667	0.010000	0.14839	0.533000	0.62120	TTT		0.443	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		G	116633298	A	G	116633298	3	3	470	1	0	0	0	0	1	0	0	0	1575	14	1	3	880	3	BUD13	11	116633298	Missense_Mutation	SNP	A	TCGA-BQ-5894-01A-11D-1589-08	110833870	116633298	18373218	14	25556											
C12orf51	283450	hgsc.bcm.edu	37	12	112694159	112694159	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr12:112694159C>T	ENST00000430131.2	-	20	3141	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N	HECTD4_ENST00000550722.1_Missense_Mutation_p.D952N|HECTD4_ENST00000377560.5_Missense_Mutation_p.D916N|RP3-521E19.2_ENST00000547401.1_RNA			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	666					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CATCTGCTATCAAATCTAAGG	0.423																																																0													126	129	128					12																	112694159		2203	4300	6503	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1996G>A	chr12.hg19:g.112694159C>T	ENSP00000404379:p.Asp666Asn		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.948543	0.97134	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.65178	-0.02;0.0;-0.14	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.70919	0.3279	L	0.27053	0.805	0.58432	D	0.999995	D;D;D	0.67145	0.996;0.993;0.996	D;D;D	0.73708	0.981;0.971;0.981	T	0.73202	-0.4057	10	0.87932	D	0	.	19.4096	0.94665	0.0:1.0:0.0:0.0	.	666;666;666	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	N	916;666;952	ENSP00000366783:D916N;ENSP00000404379:D666N;ENSP00000449784:D952N	ENSP00000366783:D916N	D	-	1	0	C12orf51	111178542	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.298000	0.78815	2.820000	0.97059	0.655000	0.94253	GAT		0.423	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112694159	C	T	112694159	3	4	470	1	0	0	0	0	1	0	0	0	1698	826	29	2	10218	2	C12orf51	12	112694159	Missense_Mutation	SNP	C	TCGA-BQ-5894-01A-11D-1589-08		112694159	21157736	15	25557											
WDR45L	56270	hgsc.bcm.edu	37	17	80579499	80579499	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr17:80579499T>C	ENST00000392325.4	-	6	798	c.604A>G	c.(604-606)Act>Gct	p.T202A	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	202																	TCGGATGCAGTTGCAATTCTT	0.542																																																0													127	97	107					17																	80579499		2203	4300	6503	SO:0001583	missense	56270			AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"WD repeat domain containing"	25072	protein-coding gene	gene with protein product		609226	"WDR45-like"	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.604A>G	chr17.hg19:g.80579499T>C	ENSP00000376139:p.Thr202Ala		O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	hg19	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618375	0.66787	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.57907	0.37	4.82	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81327	0.4799	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87771	0.2605	10	0.72032	D	0.01	-25.7216	14.6708	0.68942	0.0:0.0:0.0:1.0	.	202	Q5MNZ6	WIPI3_HUMAN	A	202;174	ENSP00000376139:T202A	ENSP00000376139:T202A	T	-	1	0	WDR45L	78172788	1.000000	0.71417	0.910000	0.35882	0.534000	0.34807	7.503000	0.81632	1.935000	0.56089	0.460000	0.39030	ACT		0.542	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		C	80579499	T	C	80579499	3	2	470	1	0	0	0	0	1	0	0	0	17303	1725	60	3	450	3	WDR45L	17	80579499	Missense_Mutation	SNP	T	TCGA-BQ-5894-01A-11D-1589-08		80579499	615711	16	25558											
KLK3	354	hgsc.bcm.edu	37	19	51359636	51359636	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr19:51359636G>T	ENST00000326003.2	+	2	228	c.187G>T	c.(187-189)Gct>Tct	p.A63S	KLK3_ENST00000593997.1_Missense_Mutation_p.A63S|KLK3_ENST00000595952.1_Missense_Mutation_p.A63S|KLK3_ENST00000597483.1_Missense_Mutation_p.A63S|KLK3_ENST00000360617.3_Missense_Mutation_p.A63S	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	63	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GGTCCTCACAGCTGCCCACTG	0.617																																					Colon(185;1767 2023 13025 30120 37630)											0													76	77	77					19																	51359636		2203	4300	6503	SO:0001583	missense	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.187G>T	chr19.hg19:g.51359636G>T	ENSP00000314151:p.Ala63Ser		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	hg19	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281163	0.40394	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000435152;ENST00000326052	D;D;D	0.95272	-3.66;-3.66;-3.66	2.91	1.81	0.25067	.	0.000000	0.32041	N	0.006661	D	0.96231	0.8771	M	0.77486	2.375	0.27490	N	0.952326	D;D;D;D	0.89917	0.998;0.987;0.999;1.0	D;D;D;D	0.91635	0.951;0.923;0.976;0.999	D	0.90785	0.4682	10	0.87932	D	0	.	8.8252	0.35050	0.0:0.0:0.7734:0.2266	.	63;63;63;63	Q8NCW4;G3XAE3;G3V0H4;C9JXH3	.;.;.;.	S	63	ENSP00000314151:A63S;ENSP00000393628:A63S;ENSP00000353829:A63S	ENSP00000314151:A63S	A	+	1	0	KLK3	56051448	0.999000	0.42202	0.987000	0.45799	0.256000	0.26092	6.780000	0.75063	0.516000	0.28340	0.436000	0.28706	GCT		0.617	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		T	51359636	G	T	51359636	3	4	470	1	0	0	0	0	1	0	0	0	8407	971	34	4	193	4	KLK3	19	51359636	Missense_Mutation	SNP	G	TCGA-BQ-5894-01A-11D-1589-08		51359636	7769347	17	25559											
SLC23A2	9962	hgsc.bcm.edu	37	20	4854628	4854628	+	Silent	SNP	C	C	T			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr20:4854628C>T	ENST00000379333.1	-	11	1448	c.1056G>A	c.(1054-1056)agG>agA	p.R352R	SLC23A2_ENST00000338244.1_Silent_p.R352R|SLC23A2_ENST00000424750.2_Silent_p.R238R|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	352					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACGCCTTGCCTGGCATCTG	0.547																																																0													117	103	108					20																	4854628		2203	4300	6503	SO:0001819	synonymous_variant	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1056G>A	chr20.hg19:g.4854628C>T			B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	hg19	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	0.340	-0.951260	0.02285	.	.	ENSG00000089057	ENST00000423430	.	.	.	5.72	-2.31	0.06765	.	.	.	.	.	T	0.50650	0.1628	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.46721	-0.9171	4	.	.	.	-23.1993	6.8431	0.23973	0.0:0.4114:0.1221:0.4665	.	.	.	.	T	109	.	.	A	-	1	0	SLC23A2	4802628	0.430000	0.25538	0.065000	0.19835	0.002000	0.02628	-0.233000	0.09041	-0.035000	0.13691	-0.140000	0.14226	GCA		0.547	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			T	4854628	C	T	4854628	2	4	470	1	0	0	0	0	0	0	0	1	14469	738	26	2		2	SLC23A2	20	4854628	Silent	SNP	C	TCGA-BQ-5894-01A-11D-1589-08		4854628	58170892	18	25560											
JAG1	182	hgsc.bcm.edu	37	20	10621489	10621489	+	Silent	SNP	C	C	A	rs202075581	byFrequency	TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr20:10621489C>A	ENST00000254958.5	-	25	3656	c.3141G>T	c.(3139-3141)tcG>tcT	p.S1047S	JAG1_ENST00000423891.2_Silent_p.S888S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1047					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGCAATCAGCGAGCTGTTTC	0.448									Alagille Syndrome																																							0													113	100	104					20																	10621489		2203	4300	6503	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3141G>T	chr20.hg19:g.10621489C>A			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	hg19	CCDS13112.1																																																																																				0.448	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		A	10621489	C	A	10621489	2	1	470	1	0	0	0	0	0	0	0	1	7936	755	27	4		4	JAG1	20	10621489	Silent	SNP	C	TCGA-BQ-5894-01A-11D-1589-08	5766861	10621489	52404031	19	25561											
KCNJ4	3761	hgsc.bcm.edu	37	22	38823432	38823433	+	In_Frame_Ins	INS	-	-	GGA			TCGA-BQ-5894-01A-11D-1589-08	TCGA-BQ-5894-11A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91c4ab90-4133-4ba6-a47b-c71a8401b3eb	2cdd7b73-3fff-470a-81b6-2d03e2025874	g.chr22:38823432_38823433insGGA	ENST00000303592.3	-	2	963_964	c.705_706insTCC	c.(703-708)ctgccc>ctgTCCccc	p.235_236LP>LSP	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	235					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGGTCCAGGGGCAGGTACTCGC	0.629																																																0																																										SO:0001652	inframe_insertion	3761			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.705_706insTCC	chr22.hg19:g.38823432_38823433insGGA	ENSP00000306497:p.Leu235_Pro236insSer		Q14D44	In_Frame_Ins	INS	ENST00000303592.3	hg19	CCDS13971.1																																																																																				0.629	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		GGA	38823433	-	GGA	38823432	7	5	470	1	0	1	1	0	0	0	0	0	8055	1203	42	0	635	0	KCNJ4	22	38823432	In_Frame_Ins	INS	-	TCGA-BQ-5894-01A-11D-1589-08		38823432	12481134	20	25562											
CSMD2	114784	hgsc.bcm.edu	37	1	34180229	34180229	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr1:34180229C>T	ENST00000373381.4	-	21	3540	c.3364G>A	c.(3364-3366)Ggc>Agc	p.G1122S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1082	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGCCGTCTGCCCCCCAGGCAC	0.607																																																0													120	136	131					1																	34180229		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3364G>A	chr1.hg19:g.34180229C>T	ENSP00000362479:p.Gly1122Ser		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.810255	0.96975	.	.	ENSG00000121904	ENST00000373381	T	0.24151	1.87	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	0.998;1.0	T	0.21075	-1.0256	10	0.46703	T	0.11	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	1082;1122	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	1122	ENSP00000362479:G1122S	ENSP00000241312:G1082S	G	-	1	0	CSMD2	33952816	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GGC		0.607	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		T	34180229	C	T	34180229	3	4	471	1	0	0	0	0	1	0	0	0	3947	623	22	2	7415	2	CSMD2	1	34180229	Missense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08		34180229	215070392	1	25563											
ENSA	2029	hgsc.bcm.edu	37	1	150601936	150601936	+	Missense_Mutation	SNP	T	T	G	rs148754482		TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr1:150601936T>G	ENST00000369014.5	-	1	136	c.11A>C	c.(10-12)aAa>aCa	p.K4T	ENSA_ENST00000503345.1_Missense_Mutation_p.K4T|ENSA_ENST00000362052.7_Missense_Mutation_p.K4T|ENSA_ENST00000339643.5_Missense_Mutation_p.K4T|ENSA_ENST00000369016.4_Missense_Mutation_p.K4T|ENSA_ENST00000361532.5_5'Flank|ENSA_ENST00000503241.1_Missense_Mutation_p.K4T|ENSA_ENST00000354702.3_5'Flank|ENSA_ENST00000361631.5_5'Flank|ENSA_ENST00000271690.8_Missense_Mutation_p.K4T|ENSA_ENST00000513281.1_5'Flank|ENSA_ENST00000356527.5_Missense_Mutation_p.K4T|ENSA_ENST00000369009.3_Missense_Mutation_p.K4T			O43768	ENSA_HUMAN	endosulfine alpha	4					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTTCTTGTTTCTGGGACAT	0.662																																					Esophageal Squamous(188;763 2078 3002 3411 26027)											0													59	61	60					1																	150601936		2203	4300	6503	SO:0001583	missense	2029			X99906	CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1	1q21.3	2010-03-11			ENSG00000143420	ENSG00000143420			3360	protein-coding gene	gene with protein product		603061				9653196	Standard	NM_004436		Approved	MGC4319, MGC8394, MGC78563, ARPP-19e	uc001eve.3	O43768	OTTHUMG00000035004	ENST00000369014.5:c.11A>C	chr1.hg19:g.150601936T>G	ENSP00000358010:p.Lys4Thr		A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0	Missense_Mutation	SNP	ENST00000369014.5	hg19	CCDS958.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543606	0.65198	.	.	ENSG00000143420	ENST00000369016;ENST00000369014;ENST00000369009;ENST00000339643;ENST00000271690;ENST00000356527;ENST00000502246;ENST00000503345;ENST00000503241;ENST00000362052	T	0.46063	0.88	5.78	3.46	0.39613	.	0.177686	0.48286	D	0.000183	T	0.26702	0.0653	L	0.40543	1.245	0.33054	D	0.533083	D;P;D;P;D	0.76494	0.999;0.728;0.982;0.534;0.99	P;B;P;B;P	0.60012	0.867;0.372;0.628;0.154;0.794	T	0.06679	-1.0813	10	0.16420	T	0.52	.	5.8762	0.18830	0.1492:0.0804:0.0:0.7704	.	4;4;4;4;4	A6NMQ3;O43768-8;E9PB69;O43768;O43768-3	.;.;.;ENSA_HUMAN;.	T	4	ENSP00000358012:K4T	ENSP00000271690:K4T	K	-	2	0	ENSA	148868560	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	3.104000	0.50306	1.004000	0.39156	-0.710000	0.03640	AAA		0.662	ENSA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084720.2	NM_207042		G	150601936	T	G	150601936	3	3	471	1	0	0	0	0	1	0	0	0	5138	1841	64	5	610	5	ENSA	1	150601936	Missense_Mutation	SNP	T	TCGA-BQ-7044-01A-11D-1961-08	116421707	150601936	98648685	2	25564											
C2orf16	84226	hgsc.bcm.edu	37	2	27802751	27802751	+	Silent	SNP	C	C	A	rs375978019	byFrequency	TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:27802751C>A	ENST00000408964.2	+	1	3363	c.3312C>A	c.(3310-3312)ccC>ccA	p.P1104P	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1104						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.P1104P(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAATACCCCCCGATGTGCCTC	0.448																																																2	Substitution - coding silent(2)	lung(2)											83	85	85					2																	27802751		1910	4127	6037	SO:0001819	synonymous_variant	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3312C>A	chr2.hg19:g.27802751C>A			B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	hg19	CCDS42666.1																																																																																				0.448	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		A	27802751	C	A	27802751	2	1	471	1	0	0	0	0	0	0	0	1	2159	639	23	4		4	C2orf16	2	27802751	Silent	SNP	C	TCGA-BQ-7044-01A-11D-1961-08		27802751	215396622	3	25565											
HEATR5B	54497	hgsc.bcm.edu	37	2	37235951	37235951	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:37235951G>A	ENST00000233099.5	-	28	4420	c.4325C>T	c.(4324-4326)tCa>tTa	p.S1442L	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S1442L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1442						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTTTGGTTTTGACTCTGCTTC	0.323																																																0													275	252	260					2																	37235951		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4325C>T	chr2.hg19:g.37235951G>A	ENSP00000233099:p.Ser1442Leu		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	hg19	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096063	0.56075	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.48201	0.82;0.82	5.75	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.421246	0.25753	N	0.028524	T	0.31071	0.0785	L	0.29908	0.895	0.35398	D	0.79138	B;B	0.28933	0.228;0.0	B;B	0.21546	0.035;0.002	T	0.33059	-0.9883	10	0.23891	T	0.37	-16.3124	9.1639	0.37038	0.0727:0.0:0.7809:0.1464	.	1442;1442	Q9P2D3-3;Q9P2D3	.;HTR5B_HUMAN	L	1442	ENSP00000233099:S1442L;ENSP00000346531:S1442L	ENSP00000233099:S1442L	S	-	2	0	HEATR5B	37089455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.382000	0.66213	2.716000	0.92895	0.655000	0.94253	TCA		0.323	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		A	37235951	G	A	37235951	3	1	471	1	0	0	0	0	1	0	0	0	7034	1294	45	2	1926	2	HEATR5B	2	37235951	Missense_Mutation	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	9433200	37235951	205963422	4	25566											
CLASP1	23332	hgsc.bcm.edu	37	2	122122716	122122716	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:122122716A>C	ENST00000263710.4	-	36	4420	c.4031T>G	c.(4030-4032)tTc>tGc	p.F1344C	CLASP1_ENST00000397587.3_Missense_Mutation_p.F1284C|CLASP1_ENST00000545861.1_Missense_Mutation_p.F1051C|CLASP1_ENST00000409078.3_Missense_Mutation_p.F1277C|CLASP1_ENST00000541377.1_Missense_Mutation_p.F1283C|CLASP1_ENST00000541859.1_Missense_Mutation_p.F1061C|CLASP1_ENST00000455322.2_Missense_Mutation_p.F1300C	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1344	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AATGGTCTTGAAGTGCTCCTC	0.557																																																0													69	75	73					2																	122122716		2086	4216	6302	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4031T>G	chr2.hg19:g.122122716A>C	ENSP00000263710:p.Phe1344Cys		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	hg19		.	.	.	.	.	.	.	.	.	.	a	27.0	4.794213	0.90453	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82678	0.5089	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.995;0.999;0.997;0.997	D	0.85278	0.1060	10	0.87932	D	0	-10.7425	16.0196	0.80472	1.0:0.0:0.0:0.0	.	1277;1284;1285;1344	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	C	1344;1300;1284;1283;1061;1277;1051	ENSP00000263710:F1344C;ENSP00000389372:F1300C;ENSP00000380717:F1284C;ENSP00000441625:F1283C;ENSP00000441770:F1061C;ENSP00000386442:F1277C;ENSP00000438620:F1051C	ENSP00000263710:F1344C	F	-	2	0	CLASP1	121839186	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.927000	0.92846	2.249000	0.74217	0.454000	0.30748	TTC		0.557	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		C	122122716	A	C	122122716	3	2	471	1	0	0	0	0	1	0	0	0	3456	246	9	5	605	5	CLASP1	2	122122716	Missense_Mutation	SNP	A	TCGA-BQ-7044-01A-11D-1961-08	84886765	122122716	121076657	5	25567											
NFE2L2	4780	hgsc.bcm.edu	37	2	178098800	178098800	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:178098800T>C	ENST00000397062.3	-	2	799	c.245A>G	c.(244-246)gAa>gGa	p.E82G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82G(3)|p.G81_F83delGEF(1)|p.E82V(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TGGGAGAAATTCACCTGTCTC	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	5	Substitution - Missense(4)|Deletion - In frame(1)	liver(3)|lung(1)|oesophagus(1)											137	137	137					2																	178098800		1900	4105	6005	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.245A>G	chr2.hg19:g.178098800T>C	ENSP00000380252:p.Glu82Gly		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	hg19	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.048793	0.93740	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.38077	1.57;1.57;1.57;1.16;1.16;1.57	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.997;0.994;0.998;0.997	T	0.72959	-0.4133	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	66;82;66;66;66;66	ENSP00000380253:E66G;ENSP00000380252:E82G;ENSP00000411575:E66G;ENSP00000400073:E66G;ENSP00000412191:E66G;ENSP00000410015:E66G	ENSP00000380252:E82G	E	-	2	0	NFE2L2	177807046	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.503000	0.81632	2.210000	0.71456	0.460000	0.39030	GAA		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		C	178098800	T	C	178098800	3	2	471	1	0	0	0	0	1	0	0	0	10370	1783	62	3	1588	3	NFE2L2	2	178098800	Missense_Mutation	SNP	T	TCGA-BQ-7044-01A-11D-1961-08	55976084	178098800	65100573	6	25568											
ATIC	471	hgsc.bcm.edu	37	2	216211585	216211585	+	Nonsense_Mutation	SNP	C	C	A	rs139340343	byFrequency	TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:216211585C>A	ENST00000236959.9	+	14	1750	c.1424C>A	c.(1423-1425)tCg>tAg	p.S475*	ATIC_ENST00000540518.1_Nonsense_Mutation_p.S416*|ATIC_ENST00000435675.1_Nonsense_Mutation_p.S474*	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	475					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CAAGTGCTTTCGATGAAGTTT	0.473			T	ALK	ALCL																																		Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	0													163	146	152					2																	216211585		2203	4300	6503	SO:0001587	stop_gained	471				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1424C>A	chr2.hg19:g.216211585C>A	ENSP00000236959:p.Ser475*		A8K202|E9PBU3|Q13856|Q53S28	Nonsense_Mutation	SNP	ENST00000236959.9	hg19	CCDS2398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.747041|3.747041	0.69418|0.69418	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000446622;ENST00000426233|ENST00000236959;ENST00000540518;ENST00000435675	.|.	.|.	.|.	5.8|5.8	4.93|4.93	0.64822|0.64822	.|.	.|0.384948	.|0.29602	.|N	.|0.011699	T|.	0.44477|.	0.1295|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52139|.	-0.8615|.	3|.	.|0.13853	.|T	.|0.58	-11.5275|-11.5275	10.9721|10.9721	0.47444|0.47444	0.0:0.8039:0.1284:0.0676|0.0:0.8039:0.1284:0.0676	.|.	.|.	.|.	.|.	L|X	168;143|475;416;474	.|.	.|ENSP00000236959:S475X	F|S	+|+	3|2	2|0	ATIC|ATIC	215919830|215919830	0.821000|0.821000	0.29204|0.29204	0.383000|0.383000	0.26132|0.26132	0.933000|0.933000	0.57130|0.57130	1.281000|1.281000	0.33214|0.33214	1.608000|1.608000	0.50180|0.50180	-0.128000|-0.128000	0.14901|0.14901	TTC|TCG		0.473	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		A	216211585	C	A	216211585	4	1	471	1	0	0	0	0	0	1	0	0	1105	893	31	4	1478	4	ATIC	2	216211585	Nonsense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08	38112785	216211585	26987788	7	25569											
FN1	2335	hgsc.bcm.edu	37	2	216289927	216289927	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:216289927A>C	ENST00000359671.1	-	7	1191	c.926T>G	c.(925-927)gTc>gGc	p.V309G	FN1_ENST00000443816.1_Missense_Mutation_p.V309G|FN1_ENST00000357009.2_Missense_Mutation_p.V309G|FN1_ENST00000426059.1_Missense_Mutation_p.V309G|FN1_ENST00000346544.3_Missense_Mutation_p.V309G|FN1_ENST00000421182.1_Missense_Mutation_p.V309G|FN1_ENST00000345488.5_Missense_Mutation_p.V309G|FN1_ENST00000357867.4_Missense_Mutation_p.V309G|FN1_ENST00000446046.1_Missense_Mutation_p.V309G|FN1_ENST00000356005.4_Missense_Mutation_p.V309G|FN1_ENST00000354785.4_Missense_Mutation_p.V309G|FN1_ENST00000323926.6_Missense_Mutation_p.V309G|FN1_ENST00000336916.4_Missense_Mutation_p.V309G|FN1_ENST00000432072.2_Missense_Mutation_p.V309G			P02751	FINC_HUMAN	fibronectin 1	309	Collagen-binding.|Fibronectin type-I 6. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ACTGTCTGTGACACAGTGGCC	0.557																																																0													138	138	138					2																	216289927		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.926T>G	chr2.hg19:g.216289927A>C	ENSP00000352696:p.Val309Gly		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	hg19		.	.	.	.	.	.	.	.	.	.	A	21.6	4.179602	0.78564	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.83	4.69	0.59074	.	0.187265	0.36303	N	0.002672	T	0.52108	0.1714	L	0.36672	1.1	0.80722	D	1	B;D;B;P;B;B;P;D;B;B;P	0.69078	0.055;0.997;0.09;0.891;0.25;0.294;0.593;0.97;0.25;0.25;0.935	B;D;B;P;B;B;B;P;B;B;P	0.80764	0.092;0.994;0.072;0.621;0.092;0.149;0.21;0.839;0.092;0.092;0.736	T	0.54609	-0.8268	10	0.87932	D	0	.	11.3208	0.49421	0.9296:0.0:0.0704:0.0	.	309;309;309;309;309;309;309;309;309;309;309	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	G	309	ENSP00000394423:V309G;ENSP00000323534:V309G;ENSP00000338200:V309G;ENSP00000350534:V309G;ENSP00000346839:V309G;ENSP00000352696:V309G;ENSP00000265312:V309G;ENSP00000273049:V309G;ENSP00000349509:V309G;ENSP00000410422:V309G;ENSP00000415018:V309G;ENSP00000399538:V309G;ENSP00000348285:V309G;ENSP00000398907:V309G	ENSP00000265313:V309G	V	-	2	0	FN1	215998172	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.190000	0.58365	2.231000	0.72958	0.460000	0.39030	GTC		0.557	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		C	216289927	A	C	216289927	3	2	471	1	0	0	0	0	1	0	0	0	5964	275	10	5	6700	5	FN1	2	216289927	Missense_Mutation	SNP	A	TCGA-BQ-7044-01A-11D-1961-08	78342	216289927	26909446	8	25570											
SCN5A	6331	hgsc.bcm.edu	37	3	38645417	38645417	+	Missense_Mutation	SNP	G	G	A	rs199473575		TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr3:38645417G>A	ENST00000333535.4	-	12	1825	c.1676C>T	c.(1675-1677)aCa>aTa	p.T559I	SCN5A_ENST00000449557.2_Missense_Mutation_p.T559I|SCN5A_ENST00000451551.2_Missense_Mutation_p.T559I|SCN5A_ENST00000413689.1_Missense_Mutation_p.T559I|SCN5A_ENST00000423572.2_Missense_Mutation_p.T559I|SCN5A_ENST00000443581.1_Missense_Mutation_p.T559I|SCN5A_ENST00000425664.1_Missense_Mutation_p.T559I|SCN5A_ENST00000450102.2_Missense_Mutation_p.T559I|SCN5A_ENST00000414099.2_Missense_Mutation_p.T559I|SCN5A_ENST00000455624.2_Missense_Mutation_p.T559I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	559					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCAGTGATGTGTGGTGGCT	0.622																																																0													49	55	53					3																	38645417		2086	4212	6298	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1676C>T	chr3.hg19:g.38645417G>A	ENSP00000328968:p.Thr559Ile		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	hg19	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780662	0.49891	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	4.27	2.43	0.29744	Domain of unknown function DUF3451 (1);	0.879266	0.09862	N	0.746040	D	0.87014	0.6072	L	0.44542	1.39	0.29849	N	0.828558	B;P;B;B;P;P;P	0.43231	0.259;0.801;0.418;0.259;0.801;0.799;0.763	B;B;B;B;B;B;B	0.43360	0.041;0.417;0.051;0.059;0.192;0.371;0.293	T	0.81636	-0.0843	10	0.72032	D	0.01	.	6.1048	0.20067	0.1921:0.2795:0.5284:0.0	.	559;559;559;559;559;559;559	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	I	559	ENSP00000398962:T559I;ENSP00000398266:T559I;ENSP00000410257:T559I;ENSP00000388797:T559I;ENSP00000397915:T559I;ENSP00000416634:T559I;ENSP00000328968:T559I;ENSP00000399524:T559I;ENSP00000403355:T559I;ENSP00000413996:T559I	ENSP00000328968:T559I	T	-	2	0	SCN5A	38620421	0.911000	0.30947	0.896000	0.35187	0.619000	0.37552	1.714000	0.37961	1.020000	0.39573	-0.224000	0.12420	ACA		0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		A	38645417	G	A	38645417	3	1	471	1	0	0	0	0	1	0	0	0	13928	1377	48	2	4442	2	SCN5A	3	38645417	Missense_Mutation	SNP	G	TCGA-BQ-7044-01A-11D-1961-08		38645417	159377013	9	25571											
AFAP1	60312	hgsc.bcm.edu	37	4	7857226	7857226	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr4:7857226T>G	ENST00000360265.4	-	3	535	c.301A>C	c.(301-303)Agc>Cgc	p.S101R	AFAP1_ENST00000382543.3_Missense_Mutation_p.S101R|AFAP1_ENST00000358461.2_Missense_Mutation_p.S101R|AFAP1_ENST00000420658.1_Missense_Mutation_p.S101R			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	101	Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTTCCGGGGCTCAGCGGCACA	0.562																																																0													89	76	81					4																	7857226		2203	4300	6503	SO:0001583	missense	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.301A>C	chr4.hg19:g.7857226T>G	ENSP00000353402:p.Ser101Arg		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	hg19	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793690	0.70452	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.79	4.79	0.61399	.	0.087086	0.85682	D	0.000000	T	0.52403	0.1732	L	0.34521	1.04	0.43326	D	0.995356	D;D	0.67145	0.996;0.99	P;P	0.58577	0.719;0.841	T	0.56347	-0.7994	10	0.66056	D	0.02	-20.9708	13.3262	0.60461	0.0:0.0:0.0:1.0	.	101;101	E9PDT7;Q8N556	.;AFAP1_HUMAN	R	101	ENSP00000353402:S101R;ENSP00000410689:S101R;ENSP00000351245:S101R;ENSP00000371983:S101R	ENSP00000351245:S101R	S	-	1	0	AFAP1	7908126	1.000000	0.71417	0.975000	0.42487	0.988000	0.76386	3.466000	0.53071	1.780000	0.52325	0.459000	0.35465	AGC		0.562	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		G	7857226	T	G	7857226	3	3	471	1	0	0	0	0	1	0	0	0	353	1551	54	5	2203	5	AFAP1	4	7857226	Missense_Mutation	SNP	T	TCGA-BQ-7044-01A-11D-1961-08		7857226	183297050	10	25572											
SLC10A4	201780	hgsc.bcm.edu	37	4	48490947	48490948	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr4:48490947_48490948insTC	ENST00000273861.4	+	3	1524_1525	c.1305_1306insTC	c.(1306-1308)tctfs	p.S436fs	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	436						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCGCTCAGACTTCTCTCTAAAT	0.351																																																0																																										SO:0001589	frameshift_variant	201780			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.1310_1311dupTC	chr4.hg19:g.48490952_48490953dupTC	ENSP00000273861:p.Ser436fs		Q8WUZ2	Frame_Shift_Ins	INS	ENST00000273861.4	hg19	CCDS3482.1																																																																																				0.351	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		TC	48490948	-	TC	48490947	7	5	471	1	0	1	1	0	0	0	0	0	14382	1596	56	0	1315	0	SLC10A4	4	48490947	Frame_Shift_Ins	INS	-	TCGA-BQ-7044-01A-11D-1961-08	40633721	48490947	142663329	11	25573											
SMARCAD1	56916	hgsc.bcm.edu	37	4	95191935	95191935	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr4:95191935A>G	ENST00000354268.4	+	11	1611	c.1538A>G	c.(1537-1539)aAa>aGa	p.K513R	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.K83R|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.K513R			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	513	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTGGTACATAAACATGGACTT	0.343																																																0													198	186	190					4																	95191935		2203	4300	6503	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1538A>G	chr4.hg19:g.95191935A>G	ENSP00000346217:p.Lys513Arg		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	hg19	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488315	0.64074	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.86	5.86	0.93980	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.46442	D	0.000282	D	0.85660	0.5748	N	0.03294	-0.36	0.54753	D	0.999987	B;B	0.32753	0.256;0.383	B;B	0.37091	0.241;0.155	D	0.84661	0.0706	10	0.23302	T	0.38	-27.7438	16.2652	0.82574	1.0:0.0:0.0:0.0	.	513;513	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	R	513;513;513;83	ENSP00000351947:K513R;ENSP00000415576:K513R;ENSP00000346217:K513R;ENSP00000423286:K83R	ENSP00000346217:K513R	K	+	2	0	SMARCAD1	95410958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.861000	0.75478	2.241000	0.73720	0.528000	0.53228	AAA		0.343	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		G	95191935	A	G	95191935	3	3	471	1	0	0	0	0	1	0	0	0	14778	14	1	3	1576	3	SMARCAD1	4	95191935	Missense_Mutation	SNP	A	TCGA-BQ-7044-01A-11D-1961-08	46700988	95191935	95962341	12	25574											
PDZD2	23037	hgsc.bcm.edu	37	5	32108145	32108145	+	Silent	SNP	G	G	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr5:32108145G>A	ENST00000438447.1	+	25	8812	c.8424G>A	c.(8422-8424)ctG>ctA	p.L2808L	PDZD2_ENST00000282493.3_Silent_p.L2808L|CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000513490.1_3'UTR			O15018	PDZD2_HUMAN	PDZ domain containing 2	2808	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAAACCTCTGGTTGGGCTCA	0.388																																																0													129	134	133					5																	32108145		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.8424G>A	chr5.hg19:g.32108145G>A			Q9BXD4	Silent	SNP	ENST00000438447.1	hg19	CCDS34137.1																																																																																				0.388	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			A	32108145	G	A	32108145	2	1	471	1	0	0	0	0	0	0	0	1	11703	1335	47	2		2	PDZD2	5	32108145	Silent	SNP	G	TCGA-BQ-7044-01A-11D-1961-08		32108145	148807115	13	25575											
POLK	51426	hgsc.bcm.edu	37	5	74872636	74872636	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr5:74872636A>C	ENST00000241436.4	+	6	744	c.572A>C	c.(571-573)aAt>aCt	p.N191T	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Missense_Mutation_p.N191T|POLK_ENST00000352007.5_Missense_Mutation_p.N191T|POLK_ENST00000508526.1_Missense_Mutation_p.N191T|POLK_ENST00000380481.3_Missense_Mutation_p.N101T|POLK_ENST00000504026.1_Missense_Mutation_p.N191T	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	191	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TATGATCCCAATTTTATGGCC	0.328								DNA polymerases (catalytic subunits)																																								0													72	70	71					5																	74872636		2203	4299	6502	SO:0001583	missense	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.572A>C	chr5.hg19:g.74872636A>C	ENSP00000241436:p.Asn191Thr		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	hg19	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883355	0.72410	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	5.34	5.34	0.76211	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.296696	0.40064	N	0.001200	T	0.77987	0.4213	L	0.38175	1.15	0.42098	D	0.991328	P;P;P;D	0.53885	0.804;0.607;0.597;0.963	P;P;P;P	0.62740	0.663;0.653;0.624;0.906	T	0.80415	-0.1392	10	0.87932	D	0	-10.8466	11.291	0.49250	0.9266:0.0:0.0734:0.0	.	191;191;191;191	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	T	191;191;191;191;191;101	ENSP00000241436:N191T;ENSP00000342256:N191T;ENSP00000424174:N191T;ENSP00000425075:N191T;ENSP00000426853:N191T;ENSP00000369848:N101T	ENSP00000241436:N191T	N	+	2	0	POLK	74908392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.254000	0.65457	2.018000	0.59344	0.460000	0.39030	AAT		0.328	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		C	74872636	A	C	74872636	3	2	471	1	0	0	0	0	1	0	0	0	12206	101	4	5	590	5	POLK	5	74872636	Missense_Mutation	SNP	A	TCGA-BQ-7044-01A-11D-1961-08	42764491	74872636	106042624	14	25576											
MAML1	9794	hgsc.bcm.edu	37	5	179192887	179192887	+	Silent	SNP	G	G	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr5:179192887G>A	ENST00000292599.3	+	2	1139	c.876G>A	c.(874-876)ttG>ttA	p.L292L	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACCCCCTTGGCACAGGACA	0.527																																																0													63	71	68					5																	179192887		2203	4300	6503	SO:0001819	synonymous_variant	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.876G>A	chr5.hg19:g.179192887G>A				Silent	SNP	ENST00000292599.3	hg19	CCDS34315.1																																																																																				0.527	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		A	179192887	G	A	179192887	2	1	471	1	0	0	0	0	0	0	0	1	9207	1339	47	2		2	MAML1	5	179192887	Silent	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	104320251	179192887	1722373	15	25577											
BAT2	7916	hgsc.bcm.edu	37	6	31595867	31595867	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr6:31595867C>T	ENST00000376033.2	+	12	1850	c.1616C>T	c.(1615-1617)gCc>gTc	p.A539V	PRRC2A_ENST00000376007.4_Missense_Mutation_p.A539V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	539	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCAGCATCAGCCCCAACACCA	0.627																																																0													127	114	119					6																	31595867		1511	2709	4220	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1616C>T	chr6.hg19:g.31595867C>T	ENSP00000365201:p.Ala539Val		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	hg19	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146580	0.21288	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.08102	3.13;3.13	4.62	0.771	0.18504	.	0.843533	0.10340	N	0.686385	T	0.00967	0.0032	N	0.02011	-0.69	0.24306	N	0.995104	B	0.02656	0.0	B	0.04013	0.001	T	0.48269	-0.9050	10	0.87932	D	0	-0.1078	6.2328	0.20744	0.0:0.5543:0.0:0.4457	.	539	P48634	PRC2A_HUMAN	V	539;528;539;539	ENSP00000365175:A539V;ENSP00000365201:A539V	ENSP00000365175:A539V	A	+	2	0	PRRC2A	31703846	0.098000	0.21812	0.464000	0.27143	0.840000	0.47671	1.319000	0.33655	0.269000	0.21961	0.561000	0.74099	GCC		0.627	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		T	31595867	C	T	31595867	3	4	471	1	0	0	0	0	1	0	0	0	1319	739	26	2	1658	2	BAT2	6	31595867	Missense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08		31595867	139519200	16	25578											
PKHD1	5314	hgsc.bcm.edu	37	6	51917922	51917922	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr6:51917922C>T	ENST00000371117.3	-	21	2367	c.2092G>A	c.(2092-2094)Ggc>Agc	p.G698S	PKHD1_ENST00000340994.4_Missense_Mutation_p.G698S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	698					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGAACAGGCCCGTCTCCTGG	0.517																																																0													72	73	73					6																	51917922		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2092G>A	chr6.hg19:g.51917922C>T	ENSP00000360158:p.Gly698Ser		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511891	0.44660	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86865	-1.97;-2.18	5.63	3.77	0.43336	.	0.810468	0.11546	N	0.553288	T	0.63141	0.2486	L	0.33485	1.01	0.09310	N	1	B;B	0.20887	0.047;0.049	B;B	0.16289	0.015;0.012	T	0.50734	-0.8793	10	0.13108	T	0.6	.	9.2695	0.37661	0.0:0.7612:0.0:0.2388	.	698;698	P08F94-2;P08F94	.;PKHD1_HUMAN	S	698	ENSP00000360158:G698S;ENSP00000341097:G698S	ENSP00000341097:G698S	G	-	1	0	PKHD1	52025881	0.000000	0.05858	0.012000	0.15200	0.396000	0.30629	0.272000	0.18644	1.462000	0.47948	0.655000	0.94253	GGC		0.517	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51917922	C	T	51917922	3	4	471	1	0	0	0	0	1	0	0	0	11973	623	22	2	10359	2	PKHD1	6	51917922	Missense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08	20322055	51917922	119197145	17	25579											
CLIP2	7461	hgsc.bcm.edu	37	7	73752800	73752800	+	Silent	SNP	A	A	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:73752800A>T	ENST00000395060.1	+	2	144	c.144A>T	c.(142-144)tcA>tcT	p.S48S	CLIP2_ENST00000223398.6_Silent_p.S48S|CLIP2_ENST00000361545.5_Silent_p.S48S			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	48						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACAAACAGTCATCTGGACCCT	0.657																																																0													21	17	18					7																	73752800		2195	4292	6487	SO:0001819	synonymous_variant	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.144A>T	chr7.hg19:g.73752800A>T			O14527|O43611	Silent	SNP	ENST00000395060.1	hg19	CCDS5569.1																																																																																				0.657	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		T	73752800	A	T	73752800	2	4	471	1	0	0	0	0	0	0	0	1	3535	204	8	5		5	CLIP2	7	73752800	Silent	SNP	A	TCGA-BQ-7044-01A-11D-1961-08		73752800	85385863	18	25580											
UFSP1	402682	hgsc.bcm.edu	37	7	100486530	100486530	+	Frame_Shift_Del	DEL	G	G	-	rs372960530		TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:100486530delG	ENST00000388761.2	-	1	809	c.363delC	c.(361-363)cccfs	p.P121fs		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	121						extracellular vesicular exosome (GO:0070062)	thiolester hydrolase activity (GO:0016790)|UFM1 hydrolase activity (GO:0071567)			lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGAAGGAGTTGGGGTCAAAGG	0.567																																																0													181	154	163					7																	100486530		2203	4300	6503	SO:0001589	frameshift_variant	402682			AF312032	CCDS34710.1	7q22.1	2008-03-25			ENSG00000176125	ENSG00000176125			33821	protein-coding gene	gene with protein product		611481				17182609, 18321862	Standard	NM_001015072		Approved	UFSP	uc003uxc.4	Q6NVU6	OTTHUMG00000159662	ENST00000388761.2:c.363delC	chr7.hg19:g.100486530delG	ENSP00000373413:p.Pro121fs		A4D2E4|A8K8V2|B6ZDG6|Q9BXP6	Frame_Shift_Del	DEL	ENST00000388761.2	hg19	CCDS34710.1																																																																																				0.567	UFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356751.1	NM_001015072		-	100486530	G	-	100486530	7	5	471	1	0	1	0	1	0	0	0	0	16942	1335	47	0	69	0	UFSP1	7	100486530	Frame_Shift_Del	DEL	G	TCGA-BQ-7044-01A-11D-1961-08	26733730	100486530	58652133	19	25581											
CHCHD3	54927	hgsc.bcm.edu	37	7	132754922	132754922	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:132754922G>A	ENST00000262570.5	-	2	293	c.149C>T	c.(148-150)tCt>tTt	p.S50F	CHCHD3_ENST00000542753.1_Missense_Mutation_p.S50F|CHCHD3_ENST00000476546.1_Intron|CHCHD3_ENST00000448878.1_Missense_Mutation_p.S50F	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	50					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						ATAAGCACCAGAATACCGCTG	0.353																																																0													79	69	72					7																	132754922		2203	4300	6503	SO:0001583	missense	54927			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21906	protein-coding gene	gene with protein product	"mitochondrial inner membrane organizing system 3", "protein phosphatase 1, regulatory subunit 22"	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.149C>T	chr7.hg19:g.132754922G>A	ENSP00000262570:p.Ser50Phe			Missense_Mutation	SNP	ENST00000262570.5	hg19	CCDS5828.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975118	0.34848	.	.	ENSG00000106554	ENST00000262570;ENST00000448878;ENST00000542753	T;T;T	0.46451	0.87;0.87;0.87	6.03	6.03	0.97812	.	0.483083	0.24301	N	0.039727	T	0.55513	0.1925	L	0.43152	1.355	0.23841	N	0.996695	B;D;B	0.65815	0.006;0.995;0.004	B;D;B	0.63283	0.006;0.913;0.007	T	0.51553	-0.8691	10	0.66056	D	0.02	-0.3383	16.0569	0.80812	0.0:0.0:1.0:0.0	.	50;50;50	G3V1K1;C9JRZ6;Q9NX63	.;.;CHCH3_HUMAN	F	50	ENSP00000262570:S50F;ENSP00000389297:S50F;ENSP00000440267:S50F	ENSP00000262570:S50F	S	-	2	0	CHCHD3	132405462	1.000000	0.71417	0.739000	0.30968	0.676000	0.39594	3.255000	0.51484	2.861000	0.98227	0.655000	0.94253	TCT		0.353	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812		A	132754922	G	A	132754922	3	1	471	1	0	0	0	0	1	0	0	0	3319	942	33	2	562	2	CHCHD3	7	132754922	Missense_Mutation	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	32268392	132754922	26383741	20	25582											
EXOC4	60412	hgsc.bcm.edu	37	7	133692515	133692515	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:133692515A>G	ENST00000253861.4	+	17	2643	c.2614A>G	c.(2614-2616)Agg>Ggg	p.R872G	EXOC4_ENST00000539845.1_Missense_Mutation_p.R771G|EXOC4_ENST00000545148.1_Missense_Mutation_p.R482G|EXOC4_ENST00000541309.1_Missense_Mutation_p.R160G	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	872					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GAAAATGTGTAGGAACATTTT	0.502																																																0													85	71	76					7																	133692515		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2614A>G	chr7.hg19:g.133692515A>G	ENSP00000253861:p.Arg872Gly		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	hg19	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.958834	0.74016	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.45	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.998;0.996	T	0.81075	-0.1097	9	0.66056	D	0.02	.	11.6561	0.51320	0.7492:0.2508:0.0:0.0	.	404;482;872	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	G	872;491;771;482;160	.	ENSP00000253861:R872G	R	+	1	2	EXOC4	133343055	0.966000	0.33281	0.990000	0.47175	0.984000	0.73092	1.330000	0.33781	2.078000	0.62432	0.482000	0.46254	AGG		0.502	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		G	133692515	A	G	133692515	3	3	471	1	0	0	0	0	1	0	0	0	5308	411	15	3	2689	3	EXOC4	7	133692515	Missense_Mutation	SNP	A	TCGA-BQ-7044-01A-11D-1961-08	937593	133692515	25446148	21	25583											
MGAM	8972	hgsc.bcm.edu	37	7	141750617	141750617	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:141750617G>T	ENST00000549489.2	+	24	2853	c.2758G>T	c.(2758-2760)Gtc>Ttc	p.V920F	MGAM_ENST00000475668.2_Missense_Mutation_p.V920F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	920					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACACAATGGTGTCCCAAGTCA	0.388																																																0													105	95	98					7																	141750617		1869	4101	5970	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2758G>T	chr7.hg19:g.141750617G>T	ENSP00000447378:p.Val920Phe		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	hg19	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560136	0.27827	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.89681	-2.55	5.81	0.962	0.19643	.	1.575090	0.03884	N	0.277575	D	0.86464	0.5939	M	0.62266	1.93	0.09310	N	1	B	0.27791	0.189	B	0.18561	0.022	T	0.66296	-0.5959	10	0.24483	T	0.36	.	9.7694	0.40580	0.4125:0.0:0.5875:0.0	.	920	O43451	MGA_HUMAN	F	920;920;797	ENSP00000447378:V920F	ENSP00000316431:V797F	V	+	1	0	MGAM	141397086	0.000000	0.05858	0.000000	0.03702	0.389000	0.30415	0.254000	0.18314	-0.105000	0.12132	-0.336000	0.08194	GTC		0.388	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			T	141750617	G	T	141750617	3	4	471	1	0	0	0	0	1	0	0	0	9543	1377	48	4	2848	4	MGAM	7	141750617	Missense_Mutation	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	8058102	141750617	17388046	22	25584											
LZTS1	11178	hgsc.bcm.edu	37	8	20107305	20107305	+	Silent	SNP	G	G	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr8:20107305G>A	ENST00000381569.1	-	4	2076	c.1719C>T	c.(1717-1719)gcC>gcT	p.A573A	LZTS1_ENST00000265801.6_Silent_p.A573A|LZTS1_ENST00000522290.1_Silent_p.A514A			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	573					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGGGCTCCCCGGCGCTGTCCC	0.632																																																0													83	82	82					8																	20107305		2203	4300	6503	SO:0001819	synonymous_variant	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1719C>T	chr8.hg19:g.20107305G>A			D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	hg19	CCDS6015.1																																																																																				0.632	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		A	20107305	G	A	20107305	2	1	471	1	0	0	0	0	0	0	0	1	9140	1103	39	1		1	LZTS1	8	20107305	Silent	SNP	G	TCGA-BQ-7044-01A-11D-1961-08		20107305	126256717	23	25585											
PPP2R2A	5520	hgsc.bcm.edu	37	8	26227846	26227849	+	Frame_Shift_Del	DEL	CACA	CACA	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	CACA	CACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr8:26227846_26227849delCACA	ENST00000380737.3	+	10	1590_1593	c.1261_1264delCACA	c.(1261-1266)cacacafs	p.HT421fs	PPP2R2A_ENST00000315985.7_Frame_Shift_Del_p.HT431fs	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	421					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GAAAATCCTTCACACAGCCTGGCA	0.426																																																0																																										SO:0001589	frameshift_variant	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1261_1264delCACA	chr8.hg19:g.26227846_26227849delCACA	ENSP00000370113:p.His421fs		B2RBU8|B4E1T7|P50409|Q00007	Frame_Shift_Del	DEL	ENST00000380737.3	hg19	CCDS34867.1																																																																																				0.426	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		-	26227849	CACA	-	26227846	7	5	471	1	0	1	0	1	0	0	0	0	12389	826	29	0	1340	0	PPP2R2A	8	26227846	Frame_Shift_Del	DEL	CACA	TCGA-BQ-7044-01A-11D-1961-08	6120541	26227846	120136176	24	25586											
PKHD1L1	93035	hgsc.bcm.edu	37	8	110451259	110451259	+	Silent	SNP	G	G	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr8:110451259G>A	ENST00000378402.5	+	32	3998	c.3894G>A	c.(3892-3894)aaG>aaA	p.K1298K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1298	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTTGCCCAAGTTGTCTCCTG	0.393										HNSCC(38;0.096)																																						0													141	137	138					8																	110451259		1844	4085	5929	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3894G>A	chr8.hg19:g.110451259G>A			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	hg19	CCDS47911.1																																																																																				0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		A	110451259	G	A	110451259	2	1	471	1	0	0	0	0	0	0	0	1	11974	1020	36	2		2	PKHD1L1	8	110451259	Silent	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	84223413	110451259	35912763	25	25587											
NMT2	9397	hgsc.bcm.edu	37	10	15154953	15154953	+	Missense_Mutation	SNP	C	C	A	rs201047504		TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr10:15154953C>A	ENST00000378165.4	-	10	1260	c.1180G>T	c.(1180-1182)Ggt>Tgt	p.G394C	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.G381C|NMT2_ENST00000540259.1_Missense_Mutation_p.G206C|NMT2_ENST00000378150.1_Missense_Mutation_p.G381C	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	394					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.G394S(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GTCAGTTTACCGTTGGGGCTC	0.512																																					Melanoma(117;1345 1645 4130 12688 30625)											1	Substitution - Missense(1)	lung(1)											153	150	151					10																	15154953		2203	4300	6503	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1180G>T	chr10.hg19:g.15154953C>A	ENSP00000367407:p.Gly394Cys		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	hg19	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557561	0.65425	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.50813	0.73	5.74	5.74	0.90152	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.095052	0.64402	D	0.000001	T	0.77718	0.4172	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.984;0.984	T	0.82653	-0.0351	10	0.87932	D	0	-20.1679	19.9332	0.97128	0.0:1.0:0.0:0.0	.	394;381;394	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	C	394;381;425;206;381	ENSP00000367407:G394C	ENSP00000367385:G425C	G	-	1	0	NMT2	15194959	1.000000	0.71417	0.995000	0.50966	0.124000	0.20399	7.380000	0.79704	2.702000	0.92279	0.655000	0.94253	GGT		0.512	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		A	15154953	C	A	15154953	3	1	471	1	0	0	0	0	1	0	0	0	10506	652	23	4	328	4	NMT2	10	15154953	Missense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08		15154953	120379794	26	25588											
SLC16A9	220963	hgsc.bcm.edu	37	10	61413807	61413807	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr10:61413807A>G	ENST00000395348.3	-	5	1613	c.977T>C	c.(976-978)cTt>cCt	p.L326P	SLC16A9_ENST00000395347.1_Missense_Mutation_p.L326P	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	326					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						ATCTTCCATAAGTAATGAAGG	0.363																																																0													55	52	53					10																	61413807		2203	4300	6503	SO:0001583	missense	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.977T>C	chr10.hg19:g.61413807A>G	ENSP00000378757:p.Leu326Pro		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	hg19	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362232	0.61403	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.34472	1.36;1.36	4.73	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.164197	0.56097	D	0.000037	T	0.51534	0.1680	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.54186	-0.8331	10	0.66056	D	0.02	.	14.2093	0.65755	1.0:0.0:0.0:0.0	.	326	Q7RTY1	MOT9_HUMAN	P	326	ENSP00000378757:L326P;ENSP00000378756:L326P	ENSP00000378756:L326P	L	-	2	0	SLC16A9	61083813	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	8.962000	0.93254	1.751000	0.51876	0.482000	0.46254	CTT		0.363	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		G	61413807	A	G	61413807	3	3	471	1	0	0	0	0	1	0	0	0	14421	72	3	3	560	3	SLC16A9	10	61413807	Missense_Mutation	SNP	A	TCGA-BQ-7044-01A-11D-1961-08	46258854	61413807	74120940	27	25589											
PDLIM1	9124	hgsc.bcm.edu	37	10	96998413	96998413	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr10:96998413T>G	ENST00000329399.6	-	6	823	c.715A>C	c.(715-717)Agt>Cgt	p.S239R	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	239					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTTTAACACTTCTGAATCCT	0.468																																																0													94	84	87					10																	96998413		2203	4300	6503	SO:0001583	missense	9124			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"carboxyl terminal LIM domain protein 1", "elfin"	605900	"PDZ and LIM domain 1 (elfin)"	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.715A>C	chr10.hg19:g.96998413T>G	ENSP00000360305:p.Ser239Arg		B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	ENST00000329399.6	hg19	CCDS7441.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985379	0.93044	.	.	ENSG00000107438	ENST00000329399	T	0.22134	1.97	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	M	0.85859	2.78	0.80722	D	1	D	0.61697	0.99	P	0.57101	0.813	T	0.53578	-0.8419	10	0.66056	D	0.02	-13.9009	14.2967	0.66318	0.0:0.0:0.0:1.0	.	239	O00151	PDLI1_HUMAN	R	239	ENSP00000360305:S239R	ENSP00000360305:S239R	S	-	1	0	PDLIM1	96988403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.927000	0.87577	1.978000	0.57642	0.454000	0.30748	AGT		0.468	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1			G	96998413	T	G	96998413	3	3	471	1	0	0	0	0	1	0	0	0	11681	1609	56	5	282	5	PDLIM1	10	96998413	Missense_Mutation	SNP	T	TCGA-BQ-7044-01A-11D-1961-08	35584606	96998413	38536334	28	25590											
DNMBP	23268	hgsc.bcm.edu	37	10	101646325	101646325	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr10:101646325G>C	ENST00000324109.4	-	13	3441	c.3350C>G	c.(3349-3351)cCc>cGc	p.P1117R	DNMBP_ENST00000540316.1_Missense_Mutation_p.P53R|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000342239.3_Missense_Mutation_p.P1141R|DNMBP_ENST00000543621.1_Missense_Mutation_p.P363R	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1117	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CAGCTTATGGGGCCCTGTAAA	0.502																																																0													116	115	115					10																	101646325		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3350C>G	chr10.hg19:g.101646325G>C	ENSP00000315659:p.Pro1117Arg		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	hg19	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.990069	0.93106	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.82	5.82	0.92795	BAR (3);	0.000000	0.48286	D	0.000199	T	0.82019	0.4946	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83050	-0.0153	10	0.62326	D	0.03	-22.7596	19.7034	0.96065	0.0:0.0:1.0:0.0	.	1117;363;1141	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	R	1141;1117;363;363;53	ENSP00000344914:P1141R;ENSP00000315659:P1117R;ENSP00000443657:P363R;ENSP00000443573:P53R	ENSP00000315659:P1117R	P	-	2	0	DNMBP	101636315	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.866000	0.99616	2.756000	0.94617	0.561000	0.74099	CCC		0.502	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		C	101646325	G	C	101646325	3	2	471	1	0	0	0	0	1	0	0	0	4676	1232	43	4	1403	4	DNMBP	10	101646325	Missense_Mutation	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	4647912	101646325	33888422	29	25591											
SLK	9748	hgsc.bcm.edu	37	10	105750528	105750528	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr10:105750528A>G	ENST00000369755.3	+	2	791	c.246A>G	c.(244-246)atA>atG	p.I82M	SLK_ENST00000335753.4_Missense_Mutation_p.I82M	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGATTGACATATTAGCATCTT	0.363																																					NSCLC(111;540 1651 1927 4474 17706)											0													132	123	126					10																	105750528		2203	4300	6503	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.246A>G	chr10.hg19:g.105750528A>G	ENSP00000358770:p.Ile82Met		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	hg19	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480734	0.63849	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69435	-0.4;-0.4	6.17	-1.34	0.09143	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	L	0.41961	1.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64067	-0.6494	10	0.42905	T	0.14	.	7.0526	0.25081	0.3492:0.3447:0.0:0.3061	.	82;82	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	M	82	ENSP00000336824:I82M;ENSP00000358770:I82M	ENSP00000336824:I82M	I	+	3	3	SLK	105740518	0.793000	0.28825	0.997000	0.53966	0.966000	0.64601	-0.030000	0.12308	-0.051000	0.13334	-0.313000	0.08912	ATA		0.363	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		G	105750528	A	G	105750528	3	3	471	1	0	0	0	0	1	0	0	0	14754	439	16	3	252	3	SLK	10	105750528	Missense_Mutation	SNP	A	TCGA-BQ-7044-01A-11D-1961-08	4104203	105750528	29784219	30	25592											
MUC5B	727897	hgsc.bcm.edu	37	11	1247945	1247945	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr11:1247945C>G	ENST00000529681.1	+	4	358	c.300C>G	c.(298-300)aaC>aaG	p.N100K	MUC5B_ENST00000447027.1_Missense_Mutation_p.N100K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	100	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.			FPGLCN -> LPCLCK (in Ref. 2; AAC67545). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCTTTGCAACTACGTGTTCT	0.632																																																0													43	45	44					11																	1247945		2150	4262	6412	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.300C>G	chr11.hg19:g.1247945C>G	ENSP00000436812:p.Asn100Lys		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708565	0.30322	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.58797	0.31;0.31	3.68	0.662	0.17880	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.67515	0.2901	L	0.59912	1.85	0.36644	D	0.876996	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.79784	0.958;0.993;0.993	T	0.70513	-0.4851	9	0.87932	D	0	.	8.7992	0.34898	0.0:0.6325:0.0:0.3675	.	100;756;100	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	K	100;100;100;133	ENSP00000436812:N100K;ENSP00000415793:N100K	ENSP00000343037:N100K	N	+	3	2	MUC5B	1204521	1.000000	0.71417	0.993000	0.49108	0.927000	0.56198	0.972000	0.29409	0.261000	0.21753	0.561000	0.74099	AAC		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1247945	C	G	1247945	3	3	471	1	0	0	0	0	1	0	0	0	9981	564	20	4	314	4	MUC5B	11	1247945	Missense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08		1247945	133758571	31	25593											
PRKRIR	5612	hgsc.bcm.edu	37	11	76063689	76063689	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr11:76063689G>C	ENST00000260045.3	-	5	610	c.505C>G	c.(505-507)Cta>Gta	p.L169V	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	169					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ATTTCAAATAGAGATTTTAGG	0.413																																																0													44	39	40					11																	76063689		2200	4292	6492	SO:0001583	missense	5612			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.505C>G	chr11.hg19:g.76063689G>C	ENSP00000260045:p.Leu169Val		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	hg19	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904821	0.33628	.	.	ENSG00000137492	ENST00000260045	.	.	.	4.99	-0.031	0.13911	.	0.157256	0.45606	D	0.000351	T	0.52948	0.1766	M	0.67953	2.075	0.34998	D	0.755717	P	0.46277	0.875	P	0.50082	0.63	T	0.59306	-0.7479	9	0.23302	T	0.38	.	9.0537	0.36392	0.5611:0.0:0.4389:0.0	.	169	O43422	P52K_HUMAN	V	169	.	ENSP00000260045:L169V	L	-	1	2	PRKRIR	75741337	0.470000	0.25854	0.991000	0.47740	0.952000	0.60782	1.098000	0.31000	0.038000	0.15604	0.586000	0.80456	CTA		0.413	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		C	76063689	G	C	76063689	3	2	471	1	0	0	0	0	1	0	0	0	12531	933	33	4	1784	4	PRKRIR	11	76063689	Missense_Mutation	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	74815744	76063689	58942827	32	25594											
DIP2B	57609	hgsc.bcm.edu	37	12	51019819	51019819	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr12:51019819C>A	ENST00000301180.5	+	2	195	c.161C>A	c.(160-162)cCg>cAg	p.P54Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	54	DMAP-interaction.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P54Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCTTACAGCCCGCAGACACAA	0.378																																																1	Substitution - Missense(1)	lung(1)											107	105	105					12																	51019819		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.161C>A	chr12.hg19:g.51019819C>A	ENSP00000301180:p.Pro54Gln		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	hg19	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	c	14.24	2.476710	0.44044	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.46819	0.86	4.75	3.87	0.44632	DMAP1-binding (1);	0.212294	0.49916	D	0.000135	T	0.46756	0.1409	L	0.49350	1.555	0.37755	D	0.926104	B;B	0.32800	0.385;0.182	B;B	0.41723	0.365;0.147	T	0.54430	-0.8295	10	0.56958	D	0.05	-5.0148	9.2742	0.37690	0.0:0.9016:0.0:0.0984	.	54;54	Q9P265;E9PHD6	DIP2B_HUMAN;.	Q	54	ENSP00000301180:P54Q	ENSP00000301180:P54Q	P	+	2	0	DIP2B	49306086	0.994000	0.37717	0.994000	0.49952	0.851000	0.48451	3.511000	0.53400	1.369000	0.46134	-0.213000	0.12676	CCG		0.378	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		A	51019819	C	A	51019819	3	1	471	1	0	0	0	0	1	0	0	0	4530	652	23	4	167	4	DIP2B	12	51019819	Missense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08		51019819	82832076	33	25595											
MON2	23041	hgsc.bcm.edu	37	12	62959064	62959064	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr12:62959064A>G	ENST00000393632.2	+	27	4471	c.4080A>G	c.(4078-4080)atA>atG	p.I1360M	MON2_ENST00000280379.6_Missense_Mutation_p.I1361M|MON2_ENST00000393629.2_Missense_Mutation_p.I1360M|MON2_ENST00000552738.1_Missense_Mutation_p.I1337M|MON2_ENST00000393630.3_Missense_Mutation_p.I1361M|MON2_ENST00000546600.1_Missense_Mutation_p.I1360M	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1360					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATCCAGCTATATTTGACCAGT	0.348																																																0													193	193	193					12																	62959064		2203	4300	6503	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4080A>G	chr12.hg19:g.62959064A>G	ENSP00000377252:p.Ile1360Met		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	hg19	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770800	0.49680	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.44	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	L	0.48642	1.525	0.58432	D	0.999998	D;D;D;P;D	0.76494	0.998;0.998;0.998;0.655;0.999	D;D;D;B;D	0.67900	0.919;0.954;0.954;0.295;0.954	T	0.66921	-0.5801	9	.	.	.	-21.3568	8.7848	0.34814	0.4208:0.4646:0.0:0.1146	.	1360;1337;1360;235;1360	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	M	1360;1361;1361;1360;1337;1360	ENSP00000377252:I1360M;ENSP00000377250:I1361M;ENSP00000280379:I1361M;ENSP00000447407:I1360M;ENSP00000449215:I1337M;ENSP00000377249:I1360M	.	I	+	3	3	MON2	61245331	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.341000	0.43983	0.409000	0.25649	-0.316000	0.08728	ATA		0.348	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		G	62959064	A	G	62959064	3	3	471	1	0	0	0	0	1	0	0	0	9702	439	16	3	4186	3	MON2	12	62959064	Missense_Mutation	SNP	A	TCGA-BQ-7044-01A-11D-1961-08	11939245	62959064	70892831	34	25596											
LNX2	222484	hgsc.bcm.edu	37	13	28136573	28136575	+	In_Frame_Del	DEL	CCG	CCG	-	rs377695945		TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	CCG	CCG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr13:28136573_28136575delCCG	ENST00000316334.3	-	5	1328_1330	c.1199_1201delCGG	c.(1198-1203)ccggag>cag	p.400_401PE>Q		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	400	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCAGCAAGCTCCGGAGTTCCATA	0.512																																																0																																										SO:0001651	inframe_deletion	222484			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1199_1201delCGG	chr13.hg19:g.28136573_28136575delCCG	ENSP00000325929:p.Pro400_Glu401delinsGln		Q5W0P0|Q6ZMH2|Q96SH4	In_Frame_Del	DEL	ENST00000316334.3	hg19	CCDS9323.1																																																																																				0.512	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			-	28136575	CCG	-	28136573	7	5	471	1	0	1	0	1	0	0	0	0	8868	864	30	0	895	0	LNX2	13	28136573	In_Frame_Del	DEL	CCG	TCGA-BQ-7044-01A-11D-1961-08		28136573	87033305	35	25597											
DOCK9	23348	hgsc.bcm.edu	37	13	99540613	99540613	+	Splice_Site	SNP	C	C	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr13:99540613C>T	ENST00000376460.1	-	17	2058		c.e17+1		DOCK9_ENST00000448493.2_Splice_Site|DOCK9_ENST00000339416.2_Splice_Site|DOCK9_ENST00000442173.1_Splice_Site	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCACACTCACCTTGGCAAAA	0.398																																																0													167	158	161					13																	99540613		1931	4118	6049	SO:0001630	splice_region_variant	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1977+1G>A	chr13.hg19:g.99540613C>T			B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Splice_Site	SNP	ENST00000376460.1	hg19	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474160	0.84640	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7775	0.96400	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK9	98338614	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.438000	0.80431	2.680000	0.91292	0.655000	0.94253	.		0.398	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	Intron	T	99540613	C	T	99540613	5	4	471	1	0	0	0	0	0	0	1	0	4696	521	18	2	4449	2	DOCK9	13	99540613	Splice_Site	SNP	C	TCGA-BQ-7044-01A-11D-1961-08	71404040	99540613	15629265	36	25598											
FAM71D	161142	hgsc.bcm.edu	37	14	67688507	67688507	+	3'UTR	SNP	C	C	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr14:67688507C>A	ENST00000556046.1	+	0	1713							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		AGCTTGAGAACTGAATCAAAC	0.353																																																0													87	82	84					14																	67688507		2203	4300	6503	SO:0001624	3_prime_UTR_variant	161142				CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 54"	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*1228C>A	chr14.hg19:g.67688507C>A			Q86VN4	Missense_Mutation	SNP	ENST00000556046.1	hg19		.	.	.	.	.	.	.	.	.	.	C	6.948	0.544670	0.13312	.	.	ENSG00000172717	ENST00000556117;ENST00000557671	.	.	.	5.95	1.59	0.23543	.	.	.	.	.	T	0.25306	0.0615	N	0.24115	0.695	.	.	.	.	.	.	.	.	.	T	0.25082	-1.0142	4	.	.	.	0.0	2.5085	0.04651	0.3418:0.4102:0.1494:0.0986	.	.	.	.	M	52;49	.	.	L	+	1	2	FAM71D	66758260	1.000000	0.71417	0.283000	0.24790	0.059000	0.15707	0.853000	0.27777	0.750000	0.32877	-0.345000	0.07892	CTG		0.353	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1	NM_173526		A	67688507	C	A	67688507	1	1	471	0	1	0	0	0	0	0	0	0	5612	565	20	4		4	FAM71D	14	67688507	3'UTR	SNP	C	TCGA-BQ-7044-01A-11D-1961-08		67688507	39661033	37	25599											
DPF3	8110	hgsc.bcm.edu	37	14	73238479	73238479	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr14:73238479T>G	ENST00000556509.1	-	2	154	c.155A>C	c.(154-156)aAc>aCc	p.N52T	DPF3_ENST00000546183.1_Missense_Mutation_p.N62T|DPF3_ENST00000541685.1_Missense_Mutation_p.N52T	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	52					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GATGTAGCAGTTGTTCTGGGC	0.622																																																0													87	95	92					14																	73238479		2195	4299	6494	SO:0001583	missense	8110			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.155A>C	chr14.hg19:g.73238479T>G	ENSP00000450518:p.Asn52Thr		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	hg19		.	.	.	.	.	.	.	.	.	.	t	30	5.056952	0.93846	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91068	-2.78;-0.26;-0.26	5.54	5.54	0.83059	.	.	.	.	.	D	0.94251	0.8154	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.991	D;D;D	0.74023	0.97;0.958;0.982	D	0.94833	0.7998	9	0.87932	D	0	.	15.693	0.77469	0.0:0.0:0.0:1.0	.	62;52;52	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	T	52;52;51;52;62	ENSP00000450518:N52T;ENSP00000441640:N52T;ENSP00000444662:N62T	ENSP00000381791:N107T	N	-	2	0	DPF3	72308232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.026000	0.88783	2.116000	0.64780	0.529000	0.55759	AAC		0.622	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			G	73238479	T	G	73238479	3	3	471	1	0	0	0	0	1	0	0	0	4720	1725	60	5	950	5	DPF3	14	73238479	Missense_Mutation	SNP	T	TCGA-BQ-7044-01A-11D-1961-08	5549972	73238479	34111061	38	25600											
PPP4R4	57718	hgsc.bcm.edu	37	14	94741788	94741788	+	Missense_Mutation	SNP	C	C	A	rs550716897		TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr14:94741788C>A	ENST00000304338.3	+	24	2681	c.2527C>A	c.(2527-2529)Cgt>Agt	p.R843S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	843					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GAGTACTTCCCGTGGGACAGG	0.448																																																0													206	193	197					14																	94741788		2203	4300	6503	SO:0001583	missense	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2527C>A	chr14.hg19:g.94741788C>A	ENSP00000305924:p.Arg843Ser		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	hg19	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200451	0.79015	.	.	ENSG00000119698	ENST00000304338	.	.	.	6.02	6.02	0.97574	.	0.066833	0.64402	D	0.000017	T	0.55226	0.1907	L	0.34521	1.04	0.80722	D	1	P	0.48016	0.904	B	0.44108	0.441	T	0.56872	-0.7907	9	0.56958	D	0.05	-13.6956	20.5373	0.99239	0.0:1.0:0.0:0.0	.	843	Q6NUP7	PP4R4_HUMAN	S	843	.	ENSP00000305924:R843S	R	+	1	0	PPP4R4	93811541	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	5.457000	0.66672	2.857000	0.98124	0.650000	0.86243	CGT		0.448	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		A	94741788	C	A	94741788	3	1	471	1	0	0	0	0	1	0	0	0	12410	652	23	4	2694	4	PPP4R4	14	94741788	Missense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08	21503309	94741788	12607752	39	25601											
ITPKA	3706	hgsc.bcm.edu	37	15	41794669	41794670	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:41794669_41794670insA	ENST00000260386.5	+	5	1131_1132	c.1078_1079insA	c.(1078-1080)gaafs	p.E360fs		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	360					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCGCGTCTTTGAAGAGTTTGTG	0.604																																																0																																										SO:0001589	frameshift_variant	3706			X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"inositol 1,4,5-trisphosphate 3-kinase A"			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.1080dupA	chr15.hg19:g.41794671_41794671dupA	ENSP00000260386:p.Glu360fs		Q8TAN3	Frame_Shift_Ins	INS	ENST00000260386.5	hg19	CCDS10076.1																																																																																				0.604	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252695.3	NM_002220		A	41794670	-	A	41794669	7	5	471	1	0	1	1	0	0	0	0	0	7919	1291	45	0	1096	0	ITPKA	15	41794669	Frame_Shift_Ins	INS	-	TCGA-BQ-7044-01A-11D-1961-08		41794669	60736723	40	25602											
C15orf43	145645	hgsc.bcm.edu	37	15	45270783	45270783	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:45270783delA	ENST00000340827.3	+	7	637	c.620delA	c.(619-621)gaafs	p.E207fs		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	207										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GTTCAAAATGAAATTAATATG	0.294																																																0													40	43	42					15																	45270783		2193	4282	6475	SO:0001589	frameshift_variant	145645			BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.620delA	chr15.hg19:g.45270783delA	ENSP00000340644:p.Glu207fs			Frame_Shift_Del	DEL	ENST00000340827.3	hg19	CCDS10115.1																																																																																				0.294	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		-	45270783	A	-	45270783	7	5	471	1	0	1	0	1	0	0	0	0	1799	246	9	0	646	0	C15orf43	15	45270783	Frame_Shift_Del	DEL	A	TCGA-BQ-7044-01A-11D-1961-08	3476114	45270783	57260609	41	25603											
ZNF609	23060	hgsc.bcm.edu	37	15	64966235	64966235	+	Silent	SNP	G	G	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:64966235G>T	ENST00000326648.3	+	4	1310	c.1182G>T	c.(1180-1182)ggG>ggT	p.G394G	RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	394						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAGCAAAGGGACCAGTAACA	0.577																																																0													96	97	97					15																	64966235		2203	4299	6502	SO:0001819	synonymous_variant	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1182G>T	chr15.hg19:g.64966235G>T			Q0D2I2	Silent	SNP	ENST00000326648.3	hg19	CCDS32270.1																																																																																				0.577	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		T	64966235	G	T	64966235	2	4	471	1	0	0	0	0	0	0	0	1	18040	1161	41	4		4	ZNF609	15	64966235	Silent	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	19695452	64966235	37565157	42	25604											
THSD4	79875	hgsc.bcm.edu	37	15	72063439	72063439	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:72063439G>C	ENST00000355327.3	+	17	2940	c.2806G>C	c.(2806-2808)Gaa>Caa	p.E936Q	THSD4_ENST00000261862.6_Missense_Mutation_p.E936Q|THSD4_ENST00000357769.4_Missense_Mutation_p.E576Q			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	936	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGGGTCCGGGAAGTGCGGTG	0.507																																																0													157	149	151					15																	72063439		1899	4126	6025	SO:0001583	missense	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2806G>C	chr15.hg19:g.72063439G>C	ENSP00000347484:p.Glu936Gln		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	hg19	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724411	0.68959	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.50813	0.73;0.73;0.73	5.05	5.05	0.67936	.	.	.	.	.	T	0.56761	0.2007	L	0.28649	0.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54596	-0.8270	9	0.35671	T	0.21	.	15.9236	0.79592	0.0:0.0:1.0:0.0	.	576;936	B4DR13;Q6ZMP0	.;THSD4_HUMAN	Q	936;936;576	ENSP00000347484:E936Q;ENSP00000261862:E936Q;ENSP00000350413:E576Q	ENSP00000261862:E936Q	E	+	1	0	THSD4	69850493	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	9.638000	0.98445	2.353000	0.79882	0.557000	0.71058	GAA		0.507	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		C	72063439	G	C	72063439	3	2	471	1	0	0	0	0	1	0	0	0	15883	1175	41	4	2868	4	THSD4	15	72063439	Missense_Mutation	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	7097204	72063439	30467953	43	25605											
BNC1	646	hgsc.bcm.edu	37	15	83932666	83932666	+	Missense_Mutation	SNP	G	G	A	rs377611889		TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:83932666G>A	ENST00000345382.2	-	4	1422	c.1337C>T	c.(1336-1338)aCg>aTg	p.T446M	BNC1_ENST00000569704.1_Missense_Mutation_p.T439M|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	446					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTCTGGGGACGTCACTGTGAA	0.527																																																0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	129	118	122		1337	0.3	0	15		122	0,8600		0,0,4300	no	missense	BNC1	NM_001717.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	446/995	83932666	1,13005	2203	4300	6503	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1337C>T	chr15.hg19:g.83932666G>A	ENSP00000307041:p.Thr446Met		Q15840	Missense_Mutation	SNP	ENST00000345382.2	hg19	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	0.574	-0.839807	0.02692	2.27E-4	0.0	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.47869	0.83	4.98	0.334	0.15948	.	0.605786	0.17317	N	0.178658	T	0.32376	0.0827	L	0.39397	1.21	0.09310	N	1	B;B	0.23806	0.008;0.091	B;B	0.16289	0.004;0.015	T	0.16958	-1.0385	10	0.51188	T	0.08	-1.7277	5.5626	0.17152	0.2685:0.4447:0.2868:0.0	.	439;446	F5GY04;Q01954	.;BNC1_HUMAN	M	446;439	ENSP00000307041:T446M	ENSP00000307041:T446M	T	-	2	0	BNC1	81723670	0.001000	0.12720	0.001000	0.08648	0.136000	0.21042	0.733000	0.26087	-0.119000	0.11830	0.655000	0.94253	ACG		0.527	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		A	83932666	G	A	83932666	3	1	471	1	0	0	0	0	1	0	0	0	1474	1145	40	1	1655	1	BNC1	15	83932666	Missense_Mutation	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	11869227	83932666	18598726	44	25606											
AKAP13	11214	hgsc.bcm.edu	37	15	86125257	86125257	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:86125257G>C	ENST00000394518.2	+	7	4053	c.3958G>C	c.(3958-3960)Ggg>Cgg	p.G1320R	AKAP13_ENST00000361243.2_Missense_Mutation_p.G1320R|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1320					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAAGCCACGGGGAGCCTTGC	0.507																																					Melanoma(94;603 1453 3280 32295 32951)											0													55	53	53					15																	86125257		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3958G>C	chr15.hg19:g.86125257G>C	ENSP00000378026:p.Gly1320Arg		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	hg19	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305937	0.40795	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.16597	2.33;2.33	4.87	2.96	0.34315	.	.	.	.	.	T	0.19446	0.0467	M	0.62723	1.935	0.09310	N	0.999996	P;P	0.49090	0.718;0.919	B;B	0.43052	0.168;0.406	T	0.13442	-1.0509	9	0.87932	D	0	.	6.6634	0.23027	0.0987:0.1806:0.7206:0.0	.	1320;1320	Q12802;Q12802-2	AKP13_HUMAN;.	R	1320;1320;1319;1319	ENSP00000354718:G1320R;ENSP00000378026:G1320R	ENSP00000354718:G1320R	G	+	1	0	AKAP13	83926261	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.156000	0.16382	0.448000	0.26722	-0.176000	0.13171	GGG		0.507	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		C	86125257	G	C	86125257	3	2	471	1	0	0	0	0	1	0	0	0	449	1232	43	4	3980	4	AKAP13	15	86125257	Missense_Mutation	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	2192591	86125257	16406135	45	25607											
ADAMTS17	170691	hgsc.bcm.edu	37	15	100871170	100871170	+	Silent	SNP	G	G	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:100871170G>A	ENST00000268070.4	-	3	645	c.540C>T	c.(538-540)atC>atT	p.I180I		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	180						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ATTTGCGCCTGATCAGATGTT	0.582																																																0													129	122	125					15																	100871170		2203	4300	6503	SO:0001819	synonymous_variant	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.540C>T	chr15.hg19:g.100871170G>A			Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	hg19	CCDS10383.1																																																																																				0.582	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		A	100871170	G	A	100871170	2	1	471	1	0	0	0	0	0	0	0	1	262	1280	45	2		2	ADAMTS17	15	100871170	Silent	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	14745913	100871170	1660222	46	25608											
PDILT	204474	hgsc.bcm.edu	37	16	20410442	20410442	+	Missense_Mutation	SNP	G	G	T	rs368369154		TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr16:20410442G>T	ENST00000302451.4	-	2	429	c.181C>A	c.(181-183)Cgc>Agc	p.R61S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	61					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.R61S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATGAGGAAGCGGGTCTGGTTC	0.562																																																1	Substitution - Missense(1)	lung(1)											100	91	94					16																	20410442		2203	4300	6503	SO:0001583	missense	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.181C>A	chr16.hg19:g.20410442G>T	ENSP00000305465:p.Arg61Ser		Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	hg19	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027180	0.75390	.	.	ENSG00000169340	ENST00000302451	T	0.03212	4.01	4.21	4.21	0.49690	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.357715	0.30134	N	0.010336	T	0.05135	0.0137	L	0.34521	1.04	0.33941	D	0.643194	P	0.48834	0.916	P	0.48454	0.578	T	0.46034	-0.9220	10	0.21014	T	0.42	.	12.3542	0.55165	0.0:0.0:1.0:0.0	.	61	Q8N807	PDILT_HUMAN	S	61	ENSP00000305465:R61S	ENSP00000305465:R61S	R	-	1	0	PDILT	20317943	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.640000	0.54350	2.623000	0.88846	0.591000	0.81541	CGC		0.562	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		T	20410442	G	T	20410442	3	4	471	1	0	0	0	0	1	0	0	0	11676	1116	39	4	1617	4	PDILT	16	20410442	Missense_Mutation	SNP	G	TCGA-BQ-7044-01A-11D-1961-08		20410442	69944311	47	25609											
IRX6	79190	hgsc.bcm.edu	37	16	55360382	55360382	+	Silent	SNP	G	G	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr16:55360382G>A	ENST00000290552.7	+	2	1512	c.180G>A	c.(178-180)gcG>gcA	p.A60A	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	60					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TGGGCAGTGCGCGACCGGAGC	0.657																																																0													26	24	25					16																	55360382		2198	4300	6498	SO:0001819	synonymous_variant	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.180G>A	chr16.hg19:g.55360382G>A			B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	hg19	CCDS32449.1																																																																																				0.657	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		A	55360382	G	A	55360382	2	1	471	1	0	0	0	0	0	0	0	1	7850	1074	38	1		1	IRX6	16	55360382	Silent	SNP	G	TCGA-BQ-7044-01A-11D-1961-08	34949940	55360382	34994371	48	25610											
CDH5	1003	hgsc.bcm.edu	37	16	66413245	66413245	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr16:66413245A>C	ENST00000341529.3	+	2	153	c.5A>C	c.(4-6)cAg>cCg	p.Q2P	CDH5_ENST00000563425.2_Missense_Mutation_p.Q2P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	2					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GGGAAGATGCAGAGGCTCATG	0.572																																																0													79	83	82					16																	66413245		2200	4299	6499	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.5A>C	chr16.hg19:g.66413245A>C	ENSP00000344115:p.Gln2Pro		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	hg19	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.791839	0.31685	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.56103	0.48	4.38	2.03	0.26663	.	.	.	.	.	T	0.27169	0.0666	N	0.08118	0	0.42316	D	0.992239	B	0.11235	0.004	B	0.06405	0.002	T	0.04386	-1.0955	9	0.42905	T	0.14	.	4.3874	0.11323	0.6928:0.2005:0.1067:0.0	.	2	P33151	CADH5_HUMAN	P	2	ENSP00000344115:Q2P	ENSP00000344115:Q2P	Q	+	2	0	CDH5	64970746	0.837000	0.29446	0.481000	0.27354	0.805000	0.45488	1.348000	0.33987	0.204000	0.20548	0.379000	0.24179	CAG		0.572	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		C	66413245	A	C	66413245	3	2	471	1	0	0	0	0	1	0	0	0	3115	188	7	5	7	5	CDH5	16	66413245	Missense_Mutation	SNP	A	TCGA-BQ-7044-01A-11D-1961-08	11052863	66413245	23941508	49	25611											
ZC3H18	124245	hgsc.bcm.edu	37	16	88666335	88666335	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr16:88666335C>A	ENST00000301011.5	+	6	1267	c.1067C>A	c.(1066-1068)cCg>cAg	p.P356Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P380Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	356						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCTCGGATCCCGAGAGATGTC	0.517																																					Ovarian(121;375 2276 20373 38669)											0													97	105	102					16																	88666335		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1067C>A	chr16.hg19:g.88666335C>A	ENSP00000301011:p.Pro356Gln		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	hg19	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108621	0.37242	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.30448	1.53;1.56	5.16	5.16	0.70880	.	0.103761	0.64402	D	0.000003	T	0.30727	0.0774	L	0.34521	1.04	0.37331	D	0.909979	P;P;P	0.41569	0.755;0.459;0.755	B;B;B	0.43360	0.417;0.299;0.417	T	0.21621	-1.0240	10	0.46703	T	0.11	-3.6361	16.815	0.85732	0.0:1.0:0.0:0.0	.	380;380;356	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	Q	356;380;380;239	ENSP00000301011:P356Q;ENSP00000416951:P380Q	ENSP00000289509:P380Q	P	+	2	0	ZC3H18	87193836	1.000000	0.71417	0.028000	0.17463	0.747000	0.42532	5.110000	0.64622	2.390000	0.81377	0.561000	0.74099	CCG		0.517	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		A	88666335	C	A	88666335	3	1	471	1	0	0	0	0	1	0	0	0	17573	652	23	4	1085	4	ZC3H18	16	88666335	Missense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08	22253090	88666335	1688418	50	25612											
SREBF1	6720	hgsc.bcm.edu	37	17	17722461	17722461	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:17722461T>C	ENST00000261646.5	-	5	1118	c.934A>G	c.(934-936)Agc>Ggc	p.S312G	SREBF1_ENST00000338854.5_Missense_Mutation_p.S312G|SREBF1_ENST00000395757.1_Missense_Mutation_p.S58G|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000355815.4_Missense_Mutation_p.S342G|SREBF1_ENST00000435530.2_Missense_Mutation_p.S312G	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	312	Interaction with LMNA. {ECO:0000250}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGGGCCTTGCTGCCAGCTGCG	0.607																																																0													62	60	60					17																	17722461		2203	4300	6503	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.934A>G	chr17.hg19:g.17722461T>C	ENSP00000261646:p.Ser312Gly		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	hg19	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.54|11.54	1.668371|1.668371	0.29604|0.29604	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|T;T;T;T;T	.|0.76578	.|0.66;0.65;0.66;1.02;-1.03	4.41|4.41	0.985|0.985	0.19779|0.19779	.|.	.|0.390138	.|0.18906	.|N	.|0.127893	T|T	0.43809|0.43809	0.1264|0.1264	N|N	0.01091|0.01091	-1.02|-1.02	0.27003|0.27003	N|N	0.964868|0.964868	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.0;0.001	T|T	0.37150|0.37150	-0.9718|-0.9718	5|10	.|0.14656	.|T	.|0.56	-6.3745|-6.3745	8.5495|8.5495	0.33442|0.33442	0.0:0.7314:0.0:0.2686|0.0:0.7314:0.0:0.2686	.|.	.|312;288;312;342	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	R|G	319|312;342;312;58;149;238;312	.|ENSP00000345822:S312G;ENSP00000348069:S342G;ENSP00000261646:S312G;ENSP00000379106:S58G;ENSP00000413389:S312G	.|ENSP00000261646:S312G	Q|S	-|-	2|1	0|0	SREBF1|SREBF1	17663186|17663186	0.654000|0.654000	0.27367|0.27367	0.484000|0.484000	0.27391|0.27391	0.781000|0.781000	0.44180|0.44180	1.287000|1.287000	0.33284|0.33284	-0.124000|-0.124000	0.11724|0.11724	0.459000|0.459000	0.35465|0.35465	CAG|AGC		0.607	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		C	17722461	T	C	17722461	3	2	471	1	0	0	0	0	1	0	0	0	15146	1580	55	3	2569	3	SREBF1	17	17722461	Missense_Mutation	SNP	T	TCGA-BQ-7044-01A-11D-1961-08		17722461	63472749	51	25613											
NF1	4763	hgsc.bcm.edu	37	17	29490388	29490388	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:29490388delC	ENST00000358273.4	+	4	856	c.473delC	c.(472-474)tctfs	p.S158fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.S158fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S158fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	158					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGTCGCATTTCTACCAGGTTA	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)											53	52	52					17																	29490388		2203	4300	6503	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.473delC	chr17.hg19:g.29490388delC	ENSP00000351015:p.Ser158fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	hg19	CCDS42292.1																																																																																				0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29490388	C	-	29490388	7	5	471	1	0	1	0	1	0	0	0	0	10358	913	32	0	487	0	NF1	17	29490388	Frame_Shift_Del	DEL	C	TCGA-BQ-7044-01A-11D-1961-08	11767927	29490388	51704822	52	25614											
NF1	4763	hgsc.bcm.edu	37	17	29552188	29552189	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:29552188_29552189delAG	ENST00000358273.4	+	17	2304_2305	c.1921_1922delAG	c.(1921-1923)agtfs	p.S641fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.S641fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	641					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGAAATACCAGTCAAATGTCC	0.406			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)																																								SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1921_1922delAG	chr17.hg19:g.29552188_29552189delAG	ENSP00000351015:p.Ser641fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	hg19	CCDS42292.1																																																																																				0.406	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		-	29552189	AG	-	29552188	7	5	471	1	0	1	0	1	0	0	0	0	10358	188	7	0	2048	0	NF1	17	29552188	Frame_Shift_Del	DEL	AG	TCGA-BQ-7044-01A-11D-1961-08	61800	29552188	51643022	53	25615											
POLG2	11232	hgsc.bcm.edu	37	17	62486981	62486981	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:62486981C>G	ENST00000539111.2	-	4	968	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	301					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CACAGGGTTTCTATTAACTCC	0.408																																					Colon(3;18 21 435 17652 48887)											0													118	105	110					17																	62486981		2203	4300	6503	SO:0001583	missense	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.901G>C	chr17.hg19:g.62486981C>G	ENSP00000442563:p.Glu301Gln		O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	hg19	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048199	0.75846	.	.	ENSG00000256525	ENST00000539111	T	0.79554	-1.28	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.88194	0.6371	M	0.81341	2.54	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	P;P	0.55713	0.782;0.782	D	0.88758	0.3255	10	0.51188	T	0.08	-11.7483	19.247	0.93906	0.0:1.0:0.0:0.0	.	301;301	E5KS15;Q9UHN1	.;DPOG2_HUMAN	Q	301	ENSP00000442563:E301Q	ENSP00000442563:E301Q	E	-	1	0	POLG2	59917443	1.000000	0.71417	0.997000	0.53966	0.239000	0.25481	6.697000	0.74603	2.516000	0.84829	0.655000	0.94253	GAA		0.408	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		G	62486981	C	G	62486981	3	3	471	1	0	0	0	0	1	0	0	0	12203	922	32	4	576	4	POLG2	17	62486981	Missense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08	32934793	62486981	18708229	54	25616											
RNF213	57674	hgsc.bcm.edu	37	17	78293016	78293016	+	Silent	SNP	C	C	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:78293016C>G	ENST00000582970.1	+	17	3071	c.2928C>G	c.(2926-2928)gcC>gcG	p.A976A	RNF213_ENST00000319921.4_Silent_p.A976A|RNF213_ENST00000508628.2_Silent_p.A1025A|RNF213_ENST00000456466.1_Silent_p.A976A|CTD-2047H16.2_ENST00000576808.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	976					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGATCACTGCCTACTGCAATA	0.522																																																0													122	122	122					17																	78293016		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2928C>G	chr17.hg19:g.78293016C>G			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	hg19	CCDS58606.1																																																																																				0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78293016	C	G	78293016	2	3	471	1	0	0	0	0	0	0	0	1	13483	668	24	4		4	RNF213	17	78293016	Silent	SNP	C	TCGA-BQ-7044-01A-11D-1961-08	15806035	78293016	2902194	55	25617											
C19orf45	374877	hgsc.bcm.edu	37	19	7570473	7570475	+	In_Frame_Del	DEL	CGG	CGG	-	rs568541151		TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	CGG	CGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:7570473_7570475delCGG	ENST00000361664.2	+	6	1107_1109	c.966_968delCGG	c.(964-969)cccggc>ccc	p.G323del	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	323										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GCCCCGGCCCCGGCAGTCTGGAC	0.571																																																0																																										SO:0001651	inframe_deletion	374877			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.966_968delCGG	chr19.hg19:g.7570473_7570475delCGG	ENSP00000355241:p.Gly323del		Q8N115	In_Frame_Del	DEL	ENST00000361664.2	hg19	CCDS12179.2																																																																																				0.571	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		-	7570475	CGG	-	7570473	7	5	471	1	0	1	0	1	0	0	0	0	1930	639	23	0	984	0	C19orf45	19	7570473	In_Frame_Del	DEL	CGG	TCGA-BQ-7044-01A-11D-1961-08		7570473	51558510	56	25618											
LPHN1	22859	hgsc.bcm.edu	37	19	14268166	14268166	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:14268166C>A	ENST00000340736.6	-	15	2954	c.2657G>T	c.(2656-2658)cGg>cTg	p.R886L	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R881L	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	886					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.R886L(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGCAGCCCCCGCAGGAAGCA	0.587																																																1	Substitution - Missense(1)	endometrium(1)											138	126	130					19																	14268166		2203	4300	6503	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2657G>T	chr19.hg19:g.14268166C>A	ENSP00000340688:p.Arg886Leu		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	hg19	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275126	0.80580	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.58652	0.32;0.32	4.62	3.57	0.40892	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	T	0.80059	0.4554	M	0.92555	3.32	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.84354	0.0534	10	0.87932	D	0	.	12.6877	0.56956	0.0:0.8322:0.1678:0.0	.	881;886	O94910-2;O94910	.;LPHN1_HUMAN	L	886;881	ENSP00000340688:R886L;ENSP00000355328:R881L	ENSP00000340688:R886L	R	-	2	0	LPHN1	14129166	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.754000	0.85163	1.038000	0.40049	0.491000	0.48974	CGG		0.587	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		A	14268166	C	A	14268166	3	1	471	1	0	0	0	0	1	0	0	0	8917	652	23	4	1807	4	LPHN1	19	14268166	Missense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08	6697693	14268166	44860817	57	25619											
EPS15L1	58513	hgsc.bcm.edu	37	19	16503123	16503124	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:16503123_16503124GT>AA	ENST00000248070.6	-	19	2233_2234	c.2094_2095AC>TT	c.(2092-2097)ttACct>ttTTct	p.698_699LP>FS	EPS15L1_ENST00000594975.1_Missense_Mutation_p.700_701LP>FS|EPS15L1_ENST00000455140.2_Missense_Mutation_p.698_699LP>FS|EPS15L1_ENST00000535753.2_Missense_Mutation_p.698_699LP>FS	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	698	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACCTTCGAAGGTAAGGAAGGGT	0.559																																																0																																										SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2094_2095delinsAA	chr19.hg19:g.16503123_16503124delinsAA	ENSP00000248070:p.L698_P699delinsFS		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	hg19	CCDS32944.1																																																																																				0.559	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		AA	16503124	GT	AA	16503123	3	1	471	1	0	0	0	0	1	0	0	0	5195	1261	44	2	519	2	EPS15L1	19	16503123	Missense_Mutation	DNP	GT	TCGA-BQ-7044-01A-11D-1961-08	2234957	16503123	42625860	58	25620											
EPS15L1	58513	hgsc.bcm.edu	37	19	16551694	16551694	+	Silent	SNP	A	A	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:16551694A>G	ENST00000248070.6	-	4	331	c.192T>C	c.(190-192)ggT>ggC	p.G64G	CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000594975.1_Silent_p.G64G|EPS15L1_ENST00000455140.2_Silent_p.G64G|EPS15L1_ENST00000535753.2_Silent_p.G64G|EPS15L1_ENST00000597937.1_Silent_p.G64G	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	64	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGAACCCTTTACCTTCTGGAT	0.527																																																0													270	276	274					19																	16551694		2203	4300	6503	SO:0001819	synonymous_variant	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.192T>C	chr19.hg19:g.16551694A>G			A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	hg19	CCDS32944.1																																																																																				0.527	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		G	16551694	A	G	16551694	2	3	471	1	0	0	0	0	0	0	0	1	5195	378	14	3		3	EPS15L1	19	16551694	Silent	SNP	A	TCGA-BQ-7044-01A-11D-1961-08	48571	16551694	42577289	59	25621											
BCAM	4059	hgsc.bcm.edu	37	19	45322619	45322619	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:45322619C>T	ENST00000270233.6	+	12	1512	c.1490C>T	c.(1489-1491)cCc>cTc	p.P497L	BCAM_ENST00000589651.1_Missense_Mutation_p.P497L	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	497	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAGCCAATCCCCGGACGGCAG	0.662																																																0													59	64	62					19																	45322619		2203	4300	6503	SO:0001583	missense	4059			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1490C>T	chr19.hg19:g.45322619C>T	ENSP00000270233:p.Pro497Leu		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	hg19	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.487632	0.01018	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.03124	4.04;4.04	4.31	0.796	0.18648	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02533	0.0077	L	0.28694	0.88	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.49532	-0.8930	9	0.13853	T	0.58	-6.5334	3.4865	0.07622	0.1986:0.5733:0.0:0.2281	.	497	P50895	BCAM_HUMAN	L	497	ENSP00000270233:P497L;ENSP00000375817:P497L	ENSP00000270233:P497L	P	+	2	0	BCAM	50014459	0.003000	0.15002	0.001000	0.08648	0.113000	0.19764	-0.023000	0.12456	0.031000	0.15407	0.543000	0.68304	CCC		0.662	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		T	45322619	C	T	45322619	3	4	471	1	0	0	0	0	1	0	0	0	1344	623	22	2	1536	2	BCAM	19	45322619	Missense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08	28770925	45322619	13806364	60	25622											
FCAR	2204	hgsc.bcm.edu	37	19	55385758	55385758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:55385758C>T	ENST00000355524.3	+	1	23	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	FCAR_ENST00000391725.3_Nonsense_Mutation_p.Q5*|FCAR_ENST00000353758.4_Nonsense_Mutation_p.Q5*|FCAR_ENST00000345937.4_Nonsense_Mutation_p.Q5*|FCAR_ENST00000391726.3_Nonsense_Mutation_p.Q5*|FCAR_ENST00000469767.1_Nonsense_Mutation_p.Q5*|FCAR_ENST00000391724.3_Nonsense_Mutation_p.Q5*|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391723.3_Nonsense_Mutation_p.Q5*|FCAR_ENST00000359272.4_Nonsense_Mutation_p.Q5*	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	5					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GGACCCCAAACAGACCACCCT	0.483																																																0													135	122	127					19																	55385758		2203	4300	6503	SO:0001587	stop_gained	2204			X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.13C>T	chr19.hg19:g.55385758C>T	ENSP00000347714:p.Gln5*		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Nonsense_Mutation	SNP	ENST00000355524.3	hg19	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549835	0.65311	.	.	ENSG00000186431	ENST00000433231;ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391723;ENST00000391724	.	.	.	2.76	1.72	0.24424	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	7.8266	0.29318	0.0:0.2588:0.7412:0.0	.	.	.	.	X	5	.	ENSP00000338257:Q5X	Q	+	1	0	FCAR	60077570	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.054000	0.11826	0.725000	0.32318	-0.226000	0.12346	CAG		0.483	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		T	55385758	C	T	55385758	4	4	471	1	0	0	0	0	0	1	0	0	5775	479	17	2	15	2	FCAR	19	55385758	Nonsense_Mutation	SNP	C	TCGA-BQ-7044-01A-11D-1961-08	10063139	55385758	3743225	61	25623											
PARD6B	84612	hgsc.bcm.edu	37	20	49366983	49366991	+	In_Frame_Del	DEL	TCAAAAACT	TCAAAAACT	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	TCAAAAACT	TCAAAAACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr20:49366983_49366991delTCAAAAACT	ENST00000371610.2	+	3	1320_1328	c.1077_1085delTCAAAAACT	c.(1075-1086)gatcaaaaactc>gac	p.QKL360del	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	360					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATGCTCCAGATCAAAAACTCTTAGAAGAA	0.397																																																0																																										SO:0001651	inframe_deletion	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.1077_1085delTCAAAAACT	chr20.hg19:g.49366983_49366991delTCAAAAACT	ENSP00000360672:p.Gln360_Leu362del		A2A2A7|Q9Y510	In_Frame_Del	DEL	ENST00000371610.2	hg19	CCDS33485.1																																																																																				0.397	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		-	49366991	TCAAAAACT	-	49366983	7	5	471	1	0	1	0	1	0	0	0	0	11448	1432	50	0	1087	0	PARD6B	20	49366983	In_Frame_Del	DEL	TCAAAAACT	TCGA-BQ-7044-01A-11D-1961-08		49366983	13658537	62	25624											
PORCN	64840	hgsc.bcm.edu	37	X	48371012	48371012	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chrX:48371012delG	ENST00000326194.6	+	5	634	c.591delG	c.(589-591)ctgfs	p.L197fs	PORCN_ENST00000537758.1_Frame_Shift_Del_p.L197fs|PORCN_ENST00000361988.3_Frame_Shift_Del_p.L197fs|PORCN_ENST00000359882.4_Frame_Shift_Del_p.L197fs|PORCN_ENST00000355092.3_Frame_Shift_Del_p.L197fs|PORCN_ENST00000355961.4_Frame_Shift_Del_p.L197fs|PORCN_ENST00000367574.4_Frame_Shift_Del_p.L126fs	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	197					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCGGAGCCTGGCACTGGCCC	0.647																																																0													54	48	50					X																	48371012		2203	4300	6503	SO:0001589	frameshift_variant	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.591delG	chrX.hg19:g.48371012delG	ENSP00000322304:p.Leu197fs		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Frame_Shift_Del	DEL	ENST00000326194.6	hg19	CCDS14299.1																																																																																				0.647	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		-	48371012	G	-	48371012	7	5	471	1	0	1	0	1	0	0	0	0	12260	1335	47	0	609	0	PORCN	23	48371012	Frame_Shift_Del	DEL	G	TCGA-BQ-7044-01A-11D-1961-08		48371012	106899548	63	25625											
KIAA1522	57648	hgsc.bcm.edu	37	1	33236795	33236795	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:33236795C>A	ENST00000373480.1	+	6	1941	c.1838C>A	c.(1837-1839)cCa>cAa	p.P613Q	KIAA1522_ENST00000373481.3_Missense_Mutation_p.P624Q|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.P672Q	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	613	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCTTCTCCCCACCTCCCTCC	0.647																																																0													58	64	62					1																	33236795		1901	4107	6008	SO:0001583	missense	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1838C>A	chr1.hg19:g.33236795C>A	ENSP00000362579:p.Pro613Gln		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	hg19	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057475	0.36277	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.18502	2.21;2.21;2.24	4.07	4.07	0.47477	.	0.000000	0.56097	D	0.000038	T	0.33673	0.0871	L	0.56769	1.78	0.38739	D	0.95385	D;D;D	0.76494	0.99;0.99;0.999	P;P;D	0.67548	0.901;0.901;0.952	T	0.16217	-1.0410	10	0.59425	D	0.04	-5.8801	11.0055	0.47631	0.0:0.9058:0.0:0.0942	.	624;613;672	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	Q	672;624;613	ENSP00000383851:P672Q;ENSP00000362580:P624Q;ENSP00000362579:P613Q	ENSP00000362579:P613Q	P	+	2	0	KIAA1522	33009382	0.814000	0.29104	0.958000	0.39756	0.821000	0.46438	3.744000	0.55112	1.954000	0.56735	0.563000	0.77884	CCA		0.647	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			A	33236795	C	A	33236795	3	1	472	1	0	0	0	0	1	0	0	0	8240	594	21	4	2037	4	KIAA1522	1	33236795	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08		33236795	216013826	1	25626											
SLC5A9	200010	hgsc.bcm.edu	37	1	48708165	48708165	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:48708165C>T	ENST00000438567.2	+	13	1766	c.1714C>T	c.(1714-1716)Ctc>Ttc	p.L572F	SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.L593F|SLC5A9_ENST00000236495.5_Missense_Mutation_p.L597F	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	572					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GAACTGCCCCCTCTCTGAGCT	0.597																																																0													73	73	73					1																	48708165		2203	4300	6503	SO:0001583	missense	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1714C>T	chr1.hg19:g.48708165C>T	ENSP00000401730:p.Leu572Phe		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	hg19	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	C	2.600	-0.293103	0.05568	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	T;T;T	0.63255	-0.03;-0.03;-0.03	4.42	2.25	0.28309	.	2.354250	0.01631	N	0.023545	T	0.51381	0.1671	L	0.29908	0.895	0.09310	N	1	B;B;B	0.25521	0.128;0.023;0.112	B;B;B	0.29716	0.04;0.058;0.106	T	0.35649	-0.9780	10	0.44086	T	0.13	.	2.3723	0.04333	0.2782:0.4525:0.1682:0.1011	.	593;572;597	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	F	593;572;597	ENSP00000431900:L593F;ENSP00000401730:L572F;ENSP00000236495:L597F	ENSP00000236495:L597F	L	+	1	0	SLC5A9	48480752	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-2.295000	0.01143	0.283000	0.22279	0.655000	0.94253	CTC		0.597	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		T	48708165	C	T	48708165	3	4	472	1	0	0	0	0	1	0	0	0	14678	681	24	2	1843	2	SLC5A9	1	48708165	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	15471370	48708165	200542456	2	25627											
CTH	1491	hgsc.bcm.edu	37	1	70895506	70895506	+	Silent	SNP	T	T	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:70895506T>C	ENST00000370938.3	+	6	762	c.618T>C	c.(616-618)tcT>tcC	p.S206S	CTH_ENST00000346806.2_Silent_p.S162S|CTH_ENST00000411986.2_Silent_p.S174S|CTH_ENST00000464926.1_3'UTR	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGATATTTCTATGTATTCTG	0.353																																																0													103	97	99					1																	70895506		2203	4300	6503	SO:0001819	synonymous_variant	1491			BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.618T>C	chr1.hg19:g.70895506T>C			O95791|Q9NX42	Silent	SNP	ENST00000370938.3	hg19	CCDS650.1																																																																																				0.353	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		C	70895506	T	C	70895506	2	2	472	1	0	0	0	0	0	0	0	1	4011	1509	53	3		3	CTH	1	70895506	Silent	SNP	T	TCGA-BQ-7045-01A-31D-1961-08	22187341	70895506	178355115	3	25628											
ABCA4	24	hgsc.bcm.edu	37	1	94528186	94528186	+	Silent	SNP	A	A	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:94528186A>T	ENST00000370225.3	-	13	1970	c.1884T>A	c.(1882-1884)gcT>gcA	p.A628A	ABCA4_ENST00000535735.1_Silent_p.A628A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	628					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCCAACTGGAGCCTCCGCCT	0.572																																																0													76	74	75					1																	94528186		2203	4300	6503	SO:0001819	synonymous_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1884T>A	chr1.hg19:g.94528186A>T			O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	hg19	CCDS747.1																																																																																				0.572	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94528186	A	T	94528186	2	4	472	1	0	0	0	0	0	0	0	1	34	291	11	5		5	ABCA4	1	94528186	Silent	SNP	A	TCGA-BQ-7045-01A-31D-1961-08	23632680	94528186	154722435	4	25629											
SEMA6C	10500	hgsc.bcm.edu	37	1	151112138	151112138	+	Silent	SNP	T	T	C	rs200312578		TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:151112138T>C	ENST00000341697.3	-	5	1964	c.273A>G	c.(271-273)gaA>gaG	p.E91E				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	91	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCCCTCCCCTTCTTCTTCGG	0.582																																																0													55	53	54					1																	151112138		2203	4300	6503	SO:0001819	synonymous_variant	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.273A>G	chr1.hg19:g.151112138T>C			D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	hg19	CCDS984.1																																																																																				0.582	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		C	151112138	T	C	151112138	2	2	472	1	0	0	0	0	0	0	0	1	14047	1606	56	3		3	SEMA6C	1	151112138	Silent	SNP	T	TCGA-BQ-7045-01A-31D-1961-08	56583952	151112138	98138483	5	25630											
PROX1	5629	hgsc.bcm.edu	37	1	214170437	214170438	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr1:214170437_214170438insAT	ENST00000366958.4	+	2	1167_1168	c.559_560insAT	c.(559-561)aatfs	p.N187fs	PROX1_ENST00000498508.2_Frame_Shift_Ins_p.N187fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.N187fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.N187fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	187					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ATTAAGGGGCAATGAAAATGAA	0.505																																																0																																										SO:0001589	frameshift_variant	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.560_561dupAT	chr1.hg19:g.214170438_214170439dupAT	ENSP00000355925:p.Asn187fs		A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Ins	INS	ENST00000366958.4	hg19	CCDS31021.1																																																																																				0.505	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		AT	214170438	-	AT	214170437	7	5	472	1	0	1	1	0	0	0	0	0	12565	130	5	0	561	0	PROX1	1	214170437	Frame_Shift_Ins	INS	-	TCGA-BQ-7045-01A-31D-1961-08	63058299	214170437	35080184	6	25631											
ADD2	119	hgsc.bcm.edu	37	2	70900055	70900055	+	Missense_Mutation	SNP	C	C	A	rs138503054		TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr2:70900055C>A	ENST00000264436.4	-	15	2269	c.1825G>T	c.(1825-1827)Gca>Tca	p.A609S	ADD2_ENST00000407644.2_Missense_Mutation_p.A609S|ADD2_ENST00000355733.3_Missense_Mutation_p.R637S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	609					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTTGTCTCTGCCTCCTTCGCT	0.547																																																0													43	40	41					2																	70900055		2203	4300	6503	SO:0001583	missense	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1825G>T	chr2.hg19:g.70900055C>A	ENSP00000264436:p.Ala609Ser		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	hg19	CCDS1906.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.858|0.858	-0.736122|-0.736122	0.03111|0.03111	.|.	.|.	ENSG00000075340|ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320|ENST00000355733	T;T|T	0.19938|0.07908	2.11;2.11|3.15	5.97|5.97	-0.847|-0.847	0.10730|0.10730	.|.	0.549745|.	0.16787|.	N|.	0.199546|.	T|T	0.06554|0.06554	0.0168|0.0168	.|.	.|.	.|.	0.28924|0.28924	N|N	0.891981|0.891981	B;B|P	0.02656|0.37500	0.0;0.0|0.597	B;B|B	0.08055|0.42916	0.0;0.003|0.402	T|T	0.33954|0.33954	-0.9848|-0.9848	9|7	0.05351|.	T|.	0.99|.	-0.0968|-0.0968	1.2149|1.2149	0.01912|0.01912	0.2:0.3933:0.2045:0.2022|0.2:0.3933:0.2045:0.2022	.|.	609;609|637	Q05DK5;P35612|P35612-3	.;ADDB_HUMAN|.	S|S	609;609;361|637	ENSP00000264436:A609S;ENSP00000384677:A609S|ENSP00000347972:R637S	ENSP00000264436:A609S|.	A|R	-|-	1|3	0|2	ADD2|ADD2	70753563|70753563	0.012000|0.012000	0.17670|0.17670	0.453000|0.453000	0.27007|0.27007	0.423000|0.423000	0.31445|0.31445	-0.223000|-0.223000	0.09177|0.09177	0.306000|0.306000	0.22856|0.22856	0.655000|0.655000	0.94253|0.94253	GCA|AGG		0.547	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		A	70900055	C	A	70900055	3	1	472	1	0	0	0	0	1	0	0	0	305	739	26	4	363	4	ADD2	2	70900055	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08		70900055	172299318	7	25632											
PLEKHB2	55041	hgsc.bcm.edu	37	2	131904282	131904282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr2:131904282delC	ENST00000403716.1	+	8	1165	c.605delC	c.(604-606)gcafs	p.A202fs	PLEKHB2_ENST00000438882.2_Frame_Shift_Del_p.H166fs|PLEKHB2_ENST00000234115.6_Frame_Shift_Del_p.A201fs|PLEKHB2_ENST00000409612.1_Frame_Shift_Del_p.A202fs|PLEKHB2_ENST00000439822.2_Frame_Shift_Del_p.H158fs|PLEKHB2_ENST00000538982.1_Frame_Shift_Del_p.A154fs|PLEKHB2_ENST00000409279.1_Frame_Shift_Del_p.A202fs|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000409158.1_Frame_Shift_Del_p.A210fs	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	202						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		AGCGACCTGGCACTGGGCATG	0.507																																																0													160	166	164					2																	131904282		2203	4300	6503	SO:0001589	frameshift_variant	55041				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"Pleckstrin homology (PH) domain containing"	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.605delC	chr2.hg19:g.131904282delC	ENSP00000385892:p.Ala202fs		B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Frame_Shift_Del	DEL	ENST00000403716.1	hg19	CCDS46413.1																																																																																				0.507	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		-	131904282	C	-	131904282	7	5	472	1	0	1	0	1	0	0	0	0	12067	710	25	0	631	0	PLEKHB2	2	131904282	Frame_Shift_Del	DEL	C	TCGA-BQ-7045-01A-31D-1961-08	61004227	131904282	111295091	8	25633	196	2									
PLEKHB2	55041	hgsc.bcm.edu	37	2	131904284	131904284	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr2:131904284C>G	ENST00000403716.1	+	8	1167	c.607C>G	c.(607-609)Ctg>Gtg	p.L203V	PLEKHB2_ENST00000438882.2_Missense_Mutation_p.H166Q|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.L202V|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.L203V|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.H158Q|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.L155V|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.L203V|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.L211V	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	203						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CGACCTGGCACTGGGCATGCT	0.512																																																0													158	165	162					2																	131904284		2203	4300	6503	SO:0001583	missense	55041				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"Pleckstrin homology (PH) domain containing"	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.607C>G	chr2.hg19:g.131904284C>G	ENSP00000385892:p.Leu203Val		B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	ENST00000403716.1	hg19	CCDS46413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.09|15.09	2.730380|2.730380	0.48939|0.48939	.|.	.|.	ENSG00000115762|ENSG00000115762	ENST00000439822;ENST00000438882|ENST00000409158;ENST00000403716;ENST00000234115;ENST00000538982;ENST00000409612;ENST00000409279	.|.	.|.	.|.	5.59|5.59	4.72|4.72	0.59763|0.59763	.|.	.|.	.|.	.|.	.|.	T|T	0.54615|0.54615	0.1869|0.1869	M|M	0.63843|0.63843	1.955|1.955	0.43448|0.43448	D|D	0.995636|0.995636	B;B|P;P;P;P	0.21381|0.52316	0.055;0.011|0.921;0.952;0.921;0.921	B;B|B;P;B;B	0.12156|0.49301	0.006;0.007|0.401;0.606;0.401;0.401	T|T	0.57081|0.57081	-0.7872|-0.7872	8|8	0.51188|0.52906	T|T	0.08|0.07	.|.	7.4489|7.4489	0.27227|0.27227	0.1648:0.751:0.0:0.0842|0.1648:0.751:0.0:0.0842	.|.	158;166|202;202;203;211	B4DZ66;B4DF08|Q53FF1;Q96CS7-3;Q96CS7;B8ZZN1	.;.|.;.;PKHB2_HUMAN;.	Q|V	158;166|211;203;202;155;203;203	.|.	ENSP00000401193:H166Q|ENSP00000234115:L202V	H|L	+|+	3|1	2|2	PLEKHB2|PLEKHB2	131620754|131620754	0.798000|0.798000	0.28890|0.28890	0.831000|0.831000	0.32960|0.32960	0.808000|0.808000	0.45660|0.45660	1.295000|1.295000	0.33377|0.33377	1.386000|1.386000	0.46466|0.46466	-0.151000|-0.151000	0.13558|0.13558	CAC|CTG		0.512	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		G	131904284	C	G	131904284	3	3	472	1	0	0	0	0	1	0	0	0	12067	564	20	4	633	4	PLEKHB2	2	131904284	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	2	131904284	111295089	9	25634	196	2									
HTR2B	3357	hgsc.bcm.edu	37	2	231988374	231988374	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr2:231988374C>A	ENST00000258400.3	-	2	617	c.105G>T	c.(103-105)caG>caT	p.Q35H	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	35					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	TTGATTCTGTCTGTAATCCAG	0.418																																					Ovarian(155;1331 1891 12853 14038 34991)											0													192	179	183					2																	231988374		2203	4300	6503	SO:0001583	missense	3357				CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.105G>T	chr2.hg19:g.231988374C>A	ENSP00000258400:p.Gln35His		B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	hg19	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121899	0.37436	.	.	ENSG00000135914	ENST00000258400	T	0.36878	1.23	5.52	1.53	0.23141	.	0.500549	0.19422	N	0.114664	T	0.27349	0.0671	L	0.44542	1.39	0.23144	N	0.998224	B	0.33379	0.41	B	0.35510	0.204	T	0.14504	-1.0470	10	0.22706	T	0.39	.	8.4754	0.33009	0.0:0.4476:0.4023:0.1501	.	35	P41595	5HT2B_HUMAN	H	35	ENSP00000258400:Q35H	ENSP00000258400:Q35H	Q	-	3	2	HTR2B	231696618	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	1.887000	0.39698	0.297000	0.22615	-0.237000	0.12165	CAG		0.418	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		A	231988374	C	A	231988374	3	1	472	1	0	0	0	0	1	0	0	0	7444	912	32	4	1352	4	HTR2B	2	231988374	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	100084090	231988374	11210999	10	25635											
AZI2	64343	hgsc.bcm.edu	37	3	28382066	28382066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:28382066delC	ENST00000479665.1	-	2	574	c.43delG	c.(43-45)gaafs	p.E15fs	AZI2_ENST00000420543.2_Frame_Shift_Del_p.E15fs|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Frame_Shift_Del_p.E15fs|AZI2_ENST00000457172.1_Frame_Shift_Del_p.E15fs	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	15	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGGCTTTTTCATGATTCAGA	0.348																																																0													104	107	106					3																	28382066		2203	4300	6503	SO:0001589	frameshift_variant	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.43delG	chr3.hg19:g.28382066delC	ENSP00000419371:p.Glu15fs		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Frame_Shift_Del	DEL	ENST00000479665.1	hg19	CCDS2647.1																																																																																				0.348	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		-	28382066	C	-	28382066	7	5	472	1	0	1	0	1	0	0	0	0	1241	835	29	0	1252	0	AZI2	3	28382066	Frame_Shift_Del	DEL	C	TCGA-BQ-7045-01A-31D-1961-08		28382066	169640364	11	25636											
CRTAP	10491	hgsc.bcm.edu	37	3	33156008	33156008	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:33156008C>T	ENST00000320954.6	+	1	538	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	CRTAP_ENST00000449224.1_Missense_Mutation_p.P147S	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	147					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GCGCCGCGAGCCCTACAAGTT	0.726																																																0													7	8	8					3																	33156008		1469	3247	4716	SO:0001583	missense	10491			AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"leprecan-like 3"	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.439C>T	chr3.hg19:g.33156008C>T	ENSP00000323696:p.Pro147Ser		B2RBL6	Missense_Mutation	SNP	ENST00000320954.6	hg19	CCDS2657.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124174	0.94429	.	.	ENSG00000170275	ENST00000320954;ENST00000509775;ENST00000539684;ENST00000449224;ENST00000423366	T;T	0.78003	-1.14;-1.14	4.31	4.31	0.51392	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.89698	0.6790	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91955	0.5574	10	0.87932	D	0	-10.8094	16.9301	0.86188	0.0:1.0:0.0:0.0	.	147;147	C9JP16;O75718	.;CRTAP_HUMAN	S	147;147;134;147;147	ENSP00000323696:P147S;ENSP00000409997:P147S	ENSP00000323696:P147S	P	+	1	0	CRTAP	33131012	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.262000	0.78410	2.398000	0.81561	0.467000	0.42956	CCC		0.726	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253246.3			T	33156008	C	T	33156008	3	4	472	1	0	0	0	0	1	0	0	0	3900	739	26	2	441	2	CRTAP	3	33156008	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	4773942	33156008	164866422	12	25637											
USP19	10869	hgsc.bcm.edu	37	3	49148708	49148709	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:49148708_49148709TC>AT	ENST00000398888.2	-	21	3316_3317	c.2998_2999GA>AT	c.(2998-3000)GAg>ATg	p.E1000M	USP19_ENST00000398896.1_Missense_Mutation_p.E808M|USP19_ENST00000417901.1_Missense_Mutation_p.E1103M|USP19_ENST00000398892.3_Missense_Mutation_p.E1040M|USP19_ENST00000434032.2_Missense_Mutation_p.E1101M|USP19_ENST00000398898.2_Missense_Mutation_p.E1040M|USP19_ENST00000453664.1_Missense_Mutation_p.E1091M	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1000	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TAGCCGCTGCTCTCGGTTGGAT	0.545																																																0																																										SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2998_2999delinsAT	chr3.hg19:g.49148708_49148709delinsAT	ENSP00000381863:p.Glu1000Met		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	hg19	CCDS43090.1																																																																																				0.545	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		AT	49148709	TC	AT	49148708	3	1	472	1	0	0	0	0	1	0	0	0	17055	1551	54	5	981	5	USP19	3	49148708	Missense_Mutation	DNP	TC	TCGA-BQ-7045-01A-31D-1961-08	15992700	49148708	148873722	13	25638											
CISH	1154	hgsc.bcm.edu	37	3	50645554	50645554	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:50645554delA	ENST00000348721.3	-	3	441	c.261delT	c.(259-261)attfs	p.I87fs	CISH_ENST00000443053.2_Frame_Shift_Del_p.I104fs	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	87	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGCTGGCCGTAATGGAACCCC	0.562																																																0													38	38	38					3																	50645554		2203	4300	6503	SO:0001589	frameshift_variant	1154			Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"Suppressors of cytokine signaling", "SH2 domain containing"	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.261delT	chr3.hg19:g.50645554delA	ENSP00000294173:p.Ile87fs		B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Frame_Shift_Del	DEL	ENST00000348721.3	hg19	CCDS2831.1																																																																																				0.562	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346245.1	NM_145071		-	50645554	A	-	50645554	7	5	472	1	0	1	0	1	0	0	0	0	3439	358	13	0	519	0	CISH	3	50645554	Frame_Shift_Del	DEL	A	TCGA-BQ-7045-01A-31D-1961-08	1496846	50645554	147376876	14	25639											
MITF	4286	hgsc.bcm.edu	37	3	69988260	69988261	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:69988260_69988261insT	ENST00000448226.2	+	4	721_722	c.594_595insT	c.(595-597)tttfs	p.F199fs	MITF_ENST00000394355.2_Frame_Shift_Ins_p.F174fs|MITF_ENST00000352241.4_Frame_Shift_Ins_p.F199fs|MITF_ENST00000314589.5_Frame_Shift_Ins_p.F183fs|MITF_ENST00000314557.6_Frame_Shift_Ins_p.F92fs|MITF_ENST00000472437.1_Frame_Shift_Ins_p.F147fs|MITF_ENST00000394351.3_Frame_Shift_Ins_p.F92fs|MITF_ENST00000531774.1_Frame_Shift_Ins_p.F36fs|MITF_ENST00000328528.6_Frame_Shift_Ins_p.F198fs			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	199					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.K91N(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GATTTTATAAGTTTGAAGAGCA	0.441			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.597dupT	chr3.hg19:g.69988263_69988263dupT	ENSP00000391803:p.Phe199fs		B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Frame_Shift_Ins	INS	ENST00000448226.2	hg19																																																																																					0.441	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		T	69988261	-	T	69988260	7	5	472	1	0	1	1	0	0	0	0	0	9598	1020	36	0	829	0	MITF	3	69988260	Frame_Shift_Ins	INS	-	TCGA-BQ-7045-01A-31D-1961-08	19342706	69988260	128034170	15	25640											
DZIP1L	199221	hgsc.bcm.edu	37	3	137805834	137805834	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:137805834A>G	ENST00000327532.2	-	7	1393	c.1031T>C	c.(1030-1032)cTg>cCg	p.L344P	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.L344P	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	344					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTCTTCATGCAGTTCCTTCAC	0.423																																																0													227	199	209					3																	137805834		2203	4300	6503	SO:0001583	missense	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1031T>C	chr3.hg19:g.137805834A>G	ENSP00000332148:p.Leu344Pro		C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	hg19	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607713	0.28623	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.50277	0.75;0.75	5.1	3.92	0.45320	.	0.353745	0.21368	N	0.075699	T	0.61788	0.2375	M	0.65975	2.015	0.44136	D	0.996925	D;D	0.89917	0.999;1.0	D;D	0.73380	0.974;0.98	T	0.58934	-0.7548	10	0.42905	T	0.14	-4.3459	8.3577	0.32340	0.8247:0.0:0.0:0.1753	.	344;344	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	P	344	ENSP00000332148:L344P;ENSP00000419486:L344P	ENSP00000332148:L344P	L	-	2	0	DZIP1L	139288524	0.829000	0.29322	0.156000	0.22583	0.039000	0.13416	4.330000	0.59266	0.859000	0.35456	-0.333000	0.08304	CTG		0.423	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		G	137805834	A	G	137805834	3	3	472	1	0	0	0	0	1	0	0	0	4866	188	7	3	1321	3	DZIP1L	3	137805834	Missense_Mutation	SNP	A	TCGA-BQ-7045-01A-31D-1961-08	67817574	137805834	60216596	16	25641											
EIF4G1	1981	hgsc.bcm.edu	37	3	184041746	184041746	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr3:184041746T>C	ENST00000346169.2	+	16	2724	c.2453T>C	c.(2452-2454)aTg>aCg	p.M818T	EIF4G1_ENST00000352767.3_Missense_Mutation_p.M825T|EIF4G1_ENST00000441154.1_Missense_Mutation_p.M655T|EIF4G1_ENST00000434061.2_Missense_Mutation_p.M623T|EIF4G1_ENST00000424196.1_Missense_Mutation_p.M825T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.M654T|EIF4G1_ENST00000435046.2_Missense_Mutation_p.M622T|EIF4G1_ENST00000382330.3_Missense_Mutation_p.M825T|EIF4G1_ENST00000411531.1_Missense_Mutation_p.M779T|EIF4G1_ENST00000414031.1_Missense_Mutation_p.M778T|EIF4G1_ENST00000427845.1_Missense_Mutation_p.M732T|EIF4G1_ENST00000392537.2_Missense_Mutation_p.M731T|EIF4G1_ENST00000342981.4_Missense_Mutation_p.M819T|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000319274.6_Missense_Mutation_p.M818T	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	818	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TATGCCAACATGTGCCGCTGC	0.517																																																0													66	63	64					3																	184041746		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2453T>C	chr3.hg19:g.184041746T>C	ENSP00000316879:p.Met818Thr		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609064	0.66558	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.92	5.92	0.95590	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.038518	0.85682	D	0.000000	T	0.52517	0.1739	M	0.86805	2.84	0.80722	D	1	P;P;P;P	0.49862	0.929;0.929;0.929;0.929	P;P;P;P	0.56216	0.794;0.794;0.794;0.794	T	0.60692	-0.7213	10	0.87932	D	0	-18.7766	16.3634	0.83296	0.0:0.0:0.0:1.0	.	825;819;818;825	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	T	818;778;731;819;826;825;759;654;825;732;819;818;825;779;654;655;623;622	ENSP00000316879:M818T;ENSP00000391935:M778T;ENSP00000376320:M731T;ENSP00000391412:M819T;ENSP00000413159:M826T;ENSP00000371767:M825T;ENSP00000403269:M759T;ENSP00000317600:M654T;ENSP00000338020:M825T;ENSP00000407682:M732T;ENSP00000343450:M819T;ENSP00000323737:M818T;ENSP00000416255:M825T;ENSP00000395974:M779T;ENSP00000398145:M654T;ENSP00000399858:M655T;ENSP00000411826:M623T;ENSP00000404754:M622T	ENSP00000323737:M818T	M	+	2	0	EIF4G1	185524440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.270000	0.75569	0.459000	0.35465	ATG		0.517	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		C	184041746	T	C	184041746	3	2	472	1	0	0	0	0	1	0	0	0	5038	1464	51	3	2507	3	EIF4G1	3	184041746	Missense_Mutation	SNP	T	TCGA-BQ-7045-01A-31D-1961-08	46235912	184041746	13980684	17	25642											
LAP3	51056	hgsc.bcm.edu	37	4	17590497	17590497	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr4:17590497G>A	ENST00000226299.4	+	7	1034	c.760G>A	c.(760-762)Gga>Aga	p.G254R	LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.G223R	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	254					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGTGGCCAAAGGATCTGACGA	0.453																																																0													110	108	108					4																	17590497		2203	4300	6503	SO:0001583	missense	51056			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.760G>A	chr4.hg19:g.17590497G>A	ENSP00000226299:p.Gly254Arg		B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	hg19	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103254	0.94245	.	.	ENSG00000002549	ENST00000226299;ENST00000513105	T;T	0.58506	0.44;0.33	5.12	5.12	0.69794	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93090	0.6499	10	0.87932	D	0	-22.9866	18.9237	0.92536	0.0:0.0:1.0:0.0	.	254	P28838	AMPL_HUMAN	R	254;88	ENSP00000226299:G254R;ENSP00000424724:G88R	ENSP00000226299:G254R	G	+	1	0	LAP3	17199595	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	9.673000	0.98631	2.534000	0.85438	0.557000	0.71058	GGA		0.453	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			A	17590497	G	A	17590497	3	1	472	1	0	0	0	0	1	0	0	0	8625	1001	35	2	786	2	LAP3	4	17590497	Missense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08		17590497	173563779	18	25643											
KDR	3791	hgsc.bcm.edu	37	4	55981041	55981042	+	Splice_Site	INS	-	-	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr4:55981041_55981042insT	ENST00000263923.4	-	5	952_953	c.657_658insA	c.(655-660)gtaggg>gtaAggg	p.G220fs		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	220					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCTCTTACCTACAACGACAA	0.347			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0																																										SO:0001630	splice_region_variant	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.658+1->A	chr4.hg19:g.55981042_55981042dupT			A2RRS0|B5A925|C5IFA0|O60723|Q14178	Frame_Shift_Ins	INS	ENST00000263923.4	hg19	CCDS3497.1																																																																																				0.347	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		Frame_Shift_Ins	T	55981042	-	T	55981041	8	5	472	1	0	1	1	0	0	0	1	0	8141	695	24	0	3516	0	KDR	4	55981041	Splice_Site	INS	-	TCGA-BQ-7045-01A-31D-1961-08	38390544	55981041	135173235	19	25644											
KIAA1211	57482	hgsc.bcm.edu	37	4	57182080	57182080	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr4:57182080delT	ENST00000504228.1	+	6	2517	c.2412delT	c.(2410-2412)cctfs	p.P804fs	KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.P797fs|KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.P804fs			Q6ZU35	K1211_HUMAN	KIAA1211	804										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAAGCCTTCCTTACCCTCCGC	0.592																																																0													81	89	86					4																	57182080		2023	4206	6229	SO:0001589	frameshift_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2412delT	chr4.hg19:g.57182080delT	ENSP00000423366:p.Pro804fs		Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Del	DEL	ENST00000504228.1	hg19	CCDS43230.1																																																																																				0.592	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		-	57182080	T	-	57182080	7	5	472	1	0	1	0	1	0	0	0	0	8217	1596	56	0	2430	0	KIAA1211	4	57182080	Frame_Shift_Del	DEL	T	TCGA-BQ-7045-01A-31D-1961-08	1201039	57182080	133972196	20	25645											
PRKG2	5593	hgsc.bcm.edu	37	4	82074809	82074809	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr4:82074809C>A	ENST00000395578.1	-	7	1095	c.979G>T	c.(979-981)Gca>Tca	p.A327S	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.A327S|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.A327S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	327					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCCTTTTGCCAAAATGAAA	0.328																																																0													76	73	74					4																	82074809		2203	4300	6503	SO:0001583	missense	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.979G>T	chr4.hg19:g.82074809C>A	ENSP00000378945:p.Ala327Ser		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	hg19	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	6.115	0.389407	0.11581	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.92699	-3.09;-3.09;-3.09	6.08	6.08	0.98989	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.049240	0.85682	D	0.000000	D	0.84701	0.5530	L	0.28192	0.835	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.16289	0.015;0.01	T	0.77000	-0.2750	10	0.02654	T	1	-21.5253	14.3009	0.66352	0.1487:0.8513:0.0:0.0	.	327;327	E7EPE6;Q13237	.;KGP2_HUMAN	S	327	ENSP00000378945:A327S;ENSP00000264399:A327S;ENSP00000389038:A327S	ENSP00000264399:A327S	A	-	1	0	PRKG2	82293833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.691000	0.61738	2.894000	0.99253	0.591000	0.81541	GCA		0.328	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		A	82074809	C	A	82074809	3	1	472	1	0	0	0	0	1	0	0	0	12528	739	26	4	1361	4	PRKG2	4	82074809	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	24892729	82074809	109079467	21	25646											
OSTC	58505	hgsc.bcm.edu	37	4	109571838	109571838	+	Silent	SNP	C	C	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr4:109571838C>T	ENST00000361564.4	+	1	99	c.27C>T	c.(25-27)ttC>ttT	p.F9F	OSTC_ENST00000505745.1_3'UTR|OSTC_ENST00000512478.2_Silent_p.F9F|RNU6-431P_ENST00000383874.1_RNA	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	9			F -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)		p.F9L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GTGTCCCGTTCTTAGTGCTCG	0.597																																																1	Substitution - Missense(1)	breast(1)											74	73	74					4																	109571838		2203	4300	6503	SO:0001819	synonymous_variant	58505			AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"DC2 protein"		"oligosaccharyltransferase complex subunit"			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.27C>T	chr4.hg19:g.109571838C>T			A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Silent	SNP	ENST00000361564.4	hg19	CCDS3681.1																																																																																				0.597	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363485.1	NM_021227		T	109571838	C	T	109571838	2	4	472	1	0	0	0	0	0	0	0	1	11298	912	32	2		2	OSTC	4	109571838	Silent	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	27497029	109571838	81582438	22	25647											
NDUFS6	4726	hgsc.bcm.edu	37	5	1801592	1801592	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr5:1801592C>A	ENST00000274137.5	+	1	79	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	MRPL36_ENST00000505818.1_5'Flank|MRPL36_ENST00000505059.2_5'Flank|MRPL36_ENST00000508987.1_5'Flank|NDUFS6_ENST00000469176.1_Missense_Mutation_p.L21M|MRPL36_ENST00000382647.7_5'Flank|NDUFS6_ENST00000510329.1_3'UTR	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	21					cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						GGCGCGGAGCCTGCCCCTGGG	0.701																																																0													13	16	15					5																	1801592		2169	4256	6425	SO:0001583	missense	4726			BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7713	protein-coding gene	gene with protein product	"complex I 13kDa subunit A", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"	603848	"NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.61C>A	chr5.hg19:g.1801592C>A	ENSP00000274137:p.Leu21Met			Missense_Mutation	SNP	ENST00000274137.5	hg19	CCDS3866.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733559	0.30684	.	.	ENSG00000145494	ENST00000274137;ENST00000469176	T	0.77750	-1.12	4.23	0.315	0.15852	.	1.107710	0.06942	N	0.813089	T	0.72676	0.3490	M	0.75447	2.3	0.09310	N	1	P	0.34837	0.472	B	0.33295	0.161	T	0.57676	-0.7770	10	0.33940	T	0.23	-2.3227	3.9905	0.09535	0.0:0.3596:0.377:0.2635	.	21	O75380	NDUS6_HUMAN	M	21	ENSP00000274137:L21M	ENSP00000274137:L21M	L	+	1	2	NDUFS6	1854592	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.256000	0.18351	0.156000	0.19299	-0.171000	0.13296	CTG		0.701	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2	NM_004553		A	1801592	C	A	1801592	3	1	472	1	0	0	0	0	1	0	0	0	10298	680	24	4	63	4	NDUFS6	5	1801592	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08		1801592	179113668	23	25648											
C6orf195	154386	hgsc.bcm.edu	37	6	2623684	2623684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr6:2623684C>A	ENST00000296847.3	-	3	896	c.373G>T	c.(373-375)Gaa>Taa	p.E125*		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	125										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CAGAAAGCTTCATTGCTAATC	0.493																																																0													65	67	67					6																	2623684		1977	4166	6143	SO:0001587	stop_gained	154386			AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.373G>T	chr6.hg19:g.2623684C>A	ENSP00000296847:p.Glu125*		Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Nonsense_Mutation	SNP	ENST00000296847.3	hg19	CCDS43416.1	.	.	.	.	.	.	.	.	.	.	C	36	5.801906	0.96960	.	.	ENSG00000164385	ENST00000296847	.	.	.	4.52	0.877	0.19145	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.3228	0.07056	0.192:0.5359:0.0:0.2721	.	.	.	.	X	125	.	ENSP00000296847:E125X	E	-	1	0	C6orf195	2568683	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	0.349000	0.20055	0.064000	0.16427	-0.136000	0.14681	GAA		0.493	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039633.1	NM_152554		A	2623684	C	A	2623684	4	1	472	1	0	0	0	0	0	1	0	0	2352	835	29	4	14	4	C6orf195	6	2623684	Nonsense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08		2623684	168491383	24	25649											
C6orf223	221416	hgsc.bcm.edu	37	6	43970795	43970795	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr6:43970795C>T	ENST00000336600.5	+	4	681	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	C6orf223_ENST00000442114.2_Missense_Mutation_p.R201C|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	221										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			ACGGCTAATGCGCTCTAATTA	0.637																																																0													25	31	29					6																	43970795		2202	4295	6497	SO:0001583	missense	221416			BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.661C>T	chr6.hg19:g.43970795C>T	ENSP00000426159:p.Arg221Cys		E9PB59|Q8N575	Missense_Mutation	SNP	ENST00000336600.5	hg19	CCDS34459.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.973119	0.34848	.	.	ENSG00000181577	ENST00000336600	T	0.40756	1.02	3.26	2.39	0.29439	.	0.205916	0.24638	N	0.036836	T	0.08133	0.0203	N	0.08118	0	0.80722	D	1	P	0.36599	0.56	B	0.27262	0.078	T	0.08722	-1.0708	10	0.87932	D	0	.	6.5098	0.22216	0.0:0.865:0.0:0.135	.	221	Q8N319	CF223_HUMAN	C	221	ENSP00000426159:R221C	ENSP00000426159:R221C	R	+	1	0	C6orf223	44078773	0.337000	0.24766	1.000000	0.80357	0.994000	0.84299	0.280000	0.18790	0.963000	0.38082	0.491000	0.48974	CGC		0.637	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		T	43970795	C	T	43970795	3	4	472	1	0	0	0	0	1	0	0	0	2359	768	27	1	718	1	C6orf223	6	43970795	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	41347111	43970795	127144272	25	25650											
GFRAL	389400	hgsc.bcm.edu	37	6	55223709	55223709	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr6:55223709delC	ENST00000340465.2	+	6	811	c.725delC	c.(724-726)tcafs	p.S242fs		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	242					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACATTTCAGTCAAAATGCTGG	0.398																																																0													115	106	109					6																	55223709		2203	4300	6503	SO:0001589	frameshift_variant	389400			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.725delC	chr6.hg19:g.55223709delC	ENSP00000343636:p.Ser242fs		Q5VTF6	Frame_Shift_Del	DEL	ENST00000340465.2	hg19	CCDS4957.1																																																																																				0.398	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		-	55223709	C	-	55223709	7	5	472	1	0	1	0	1	0	0	0	0	6353	838	29	0	747	0	GFRAL	6	55223709	Frame_Shift_Del	DEL	C	TCGA-BQ-7045-01A-31D-1961-08	11252914	55223709	115891358	26	25651											
KIAA1919	91749	hgsc.bcm.edu	37	6	111587895	111587895	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr6:111587895A>T	ENST00000368847.4	+	4	1483	c.1130A>T	c.(1129-1131)cAa>cTa	p.Q377L		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	377					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GGAATTCTTCAAGGAAAATAC	0.403																																																0													111	115	114					6																	111587895		2203	4300	6503	SO:0001583	missense	91749			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1130A>T	chr6.hg19:g.111587895A>T	ENSP00000357840:p.Gln377Leu		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	hg19	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	A	0.017	-1.496996	0.01001	.	.	ENSG00000173214	ENST00000368847	T	0.78481	-1.18	5.92	5.92	0.95590	Major facilitator superfamily domain, general substrate transporter (1);	0.239924	0.43110	D	0.000612	T	0.54367	0.1854	L	0.49640	1.575	0.36102	D	0.844223	B	0.28378	0.209	B	0.25987	0.065	T	0.57522	-0.7797	10	0.02654	T	1	-15.1619	16.3615	0.83270	1.0:0.0:0.0:0.0	.	377	Q5TF39	NAGT1_HUMAN	L	377	ENSP00000357840:Q377L	ENSP00000357840:Q377L	Q	+	2	0	KIAA1919	111694588	0.984000	0.35163	0.981000	0.43875	0.149000	0.21700	3.380000	0.52448	2.264000	0.75181	0.450000	0.29827	CAA		0.403	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		T	111587895	A	T	111587895	3	4	472	1	0	0	0	0	1	0	0	0	8264	130	5	5	1144	5	KIAA1919	6	111587895	Missense_Mutation	SNP	A	TCGA-BQ-7045-01A-31D-1961-08	56364186	111587895	59527172	27	25652											
THBS2	7058	hgsc.bcm.edu	37	6	169622311	169622311	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr6:169622311G>T	ENST00000366787.3	-	20	3503	c.3254C>A	c.(3253-3255)aCg>aAg	p.T1085K	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1085	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T1085M(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTGTTCCCCGTGTGCCACAG	0.662																																					Esophageal Squamous(91;219 1934 18562 44706)											1	Substitution - Missense(1)	endometrium(1)											58	58	58					6																	169622311		2203	4300	6503	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3254C>A	chr6.hg19:g.169622311G>T	ENSP00000355751:p.Thr1085Lys		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	hg19	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290586	0.59976	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.91996	-2.95	4.21	4.21	0.49690	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.42172	U	0.000748	D	0.94453	0.8215	M	0.66939	2.045	0.58432	D	0.999992	D	0.89917	1.0	D	0.72075	0.976	D	0.95110	0.8237	10	0.66056	D	0.02	-24.5393	16.5686	0.84605	0.0:0.0:1.0:0.0	.	1085	P35442	TSP2_HUMAN	K	1085;343	ENSP00000355751:T1085K	ENSP00000355751:T1085K	T	-	2	0	THBS2	169364236	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	9.166000	0.94766	1.887000	0.54652	0.297000	0.19635	ACG		0.662	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		T	169622311	G	T	169622311	3	4	472	1	0	0	0	0	1	0	0	0	15859	1145	40	4	280	4	THBS2	6	169622311	Missense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08	58034416	169622311	1492756	28	25653											
CCM2	83605	hgsc.bcm.edu	37	7	45104062	45104062	+	Splice_Site	SNP	A	A	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr7:45104062A>G	ENST00000258781.6	+	4	438	c.289A>G	c.(289-291)Aga>Gga	p.R97G	CCM2_ENST00000475551.1_Splice_Site_p.R91G|CCM2_ENST00000544363.1_Splice_Site_p.R97G|CCM2_ENST00000381112.3_Splice_Site_p.R118G|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000541586.1_Splice_Site_p.R39G|CCM2_ENST00000474617.1_Splice_Site_p.R91G	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	97	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TTCCTTCCAGAGAGCCCACCA	0.567																																																0													43	37	39					7																	45104062		2203	4300	6503	SO:0001630	splice_region_variant	83605			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.289-1A>G	chr7.hg19:g.45104062A>G			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	hg19	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058731	0.55325	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.32	4.24	0.50183	Phosphotyrosine interaction domain (1);	0.051158	0.85682	D	0.000000	T	0.55130	0.1901	M	0.67953	2.075	0.48901	D	0.999727	B;P;P;P;P;P	0.49559	0.118;0.923;0.925;0.873;0.617;0.873	B;P;P;B;B;P	0.52159	0.075;0.578;0.691;0.385;0.173;0.461	T	0.54476	-0.8288	9	.	.	.	-18.4128	10.5848	0.45275	0.7713:0.2287:0.0:0.0	.	90;60;118;97;39;97	B7Z5A6;B7Z8D5;E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;.;.;CCM2_HUMAN	G	97;39;97;91;118;91	ENSP00000258781:R97G;ENSP00000444725:R39G;ENSP00000438035:R97G;ENSP00000417180:R91G;ENSP00000370503:R118G;ENSP00000419474:R91G	.	R	+	1	2	CCM2	45070587	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.295000	0.51794	0.976000	0.38417	0.533000	0.62120	AGA		0.567	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443	Missense_Mutation	G	45104062	A	G	45104062	5	3	472	1	0	0	0	0	0	0	1	0	2910	318	11	3	400	3	CCM2	7	45104062	Splice_Site	SNP	A	TCGA-BQ-7045-01A-31D-1961-08		45104062	114034601	29	25654											
PCLO	27445	hgsc.bcm.edu	37	7	82532016	82532016	+	Silent	SNP	A	A	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr7:82532016A>G	ENST00000333891.9	-	9	13816	c.13479T>C	c.(13477-13479)ccT>ccC	p.P4493P	PCLO_ENST00000423517.2_Silent_p.P4493P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTTGCGTGAGGAAAGATGT	0.299																																																0													198	180	186					7																	82532016		1833	4089	5922	SO:0001819	synonymous_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13479T>C	chr7.hg19:g.82532016A>G				Silent	SNP	ENST00000333891.9	hg19	CCDS47630.1																																																																																				0.299	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		G	82532016	A	G	82532016	2	3	472	1	0	0	0	0	0	0	0	1	11585	291	11	3		3	PCLO	7	82532016	Silent	SNP	A	TCGA-BQ-7045-01A-31D-1961-08	37427954	82532016	76606647	30	25655											
CHCHD3	54927	hgsc.bcm.edu	37	7	132523165	132523165	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr7:132523165T>G	ENST00000262570.5	-	6	662	c.518A>C	c.(517-519)aAg>aCg	p.K173T	CHCHD3_ENST00000476546.1_5'UTR|AC009518.8_ENST00000453078.1_RNA|CHCHD3_ENST00000448878.1_Missense_Mutation_p.K178T	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	173					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						TTACTTGAACTTTGCTTCCAC	0.333																																																0													73	73	73					7																	132523165		2203	4300	6503	SO:0001583	missense	54927			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21906	protein-coding gene	gene with protein product	"mitochondrial inner membrane organizing system 3", "protein phosphatase 1, regulatory subunit 22"	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.518A>C	chr7.hg19:g.132523165T>G	ENSP00000262570:p.Lys173Thr			Missense_Mutation	SNP	ENST00000262570.5	hg19	CCDS5828.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346334	0.61073	.	.	ENSG00000106554	ENST00000262570;ENST00000448878	T;T	0.45668	0.89;0.89	5.97	5.97	0.96955	.	0.165073	0.51477	D	0.000084	T	0.48390	0.1497	L	0.33137	0.985	0.80722	D	1	D;B	0.76494	0.999;0.294	D;B	0.72982	0.979;0.21	T	0.44065	-0.9352	10	0.30078	T	0.28	-29.5969	8.416	0.32672	0.0:0.1479:0.0:0.8521	.	178;173	C9JRZ6;Q9NX63	.;CHCH3_HUMAN	T	173;178	ENSP00000262570:K173T;ENSP00000389297:K178T	ENSP00000262570:K173T	K	-	2	0	CHCHD3	132173705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.637000	0.46553	2.288000	0.76882	0.533000	0.62120	AAG		0.333	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812		G	132523165	T	G	132523165	3	3	472	1	0	0	0	0	1	0	0	0	3319	1609	56	5	177	5	CHCHD3	7	132523165	Missense_Mutation	SNP	T	TCGA-BQ-7045-01A-31D-1961-08	49991149	132523165	26615498	31	25656											
KCNV1	27012	hgsc.bcm.edu	37	8	110986410	110986410	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr8:110986410C>A	ENST00000524391.1	-	2	1240	c.208G>T	c.(208-210)Gtg>Ttg	p.V70L	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.V70L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	70					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCCACCACCACGGCCAGCTTG	0.692																																																0													14	13	13					8																	110986410		2190	4286	6476	SO:0001583	missense	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.208G>T	chr8.hg19:g.110986410C>A	ENSP00000435954:p.Val70Leu		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	hg19	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	9.543	1.113775	0.20795	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	T;T	0.76448	-1.02;-1.02	4.95	4.07	0.47477	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.406801	0.24251	N	0.040174	T	0.56659	0.2000	N	0.02225	-0.63	0.33369	D	0.573278	B	0.26195	0.144	B	0.30646	0.118	T	0.64816	-0.6318	10	0.45353	T	0.12	.	12.8935	0.58084	0.0:0.8369:0.1631:0.0	.	70	Q6PIU1	KCNV1_HUMAN	L	70	ENSP00000435954:V70L;ENSP00000297404:V70L	ENSP00000297404:V70L	V	-	1	0	KCNV1	111055586	0.764000	0.28473	0.999000	0.59377	0.995000	0.86356	1.510000	0.35790	1.285000	0.44548	0.655000	0.94253	GTG		0.692	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		A	110986410	C	A	110986410	3	1	472	1	0	0	0	0	1	0	0	0	8096	536	19	4	1306	4	KCNV1	8	110986410	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08		110986410	35377612	32	25657											
GOLGA2	2801	hgsc.bcm.edu	37	9	131028577	131028577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr9:131028577G>A	ENST00000421699.2	-	8	601	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	GOLGA2_ENST00000609374.1_Nonsense_Mutation_p.Q185*	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	197					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTTCCAACTGATCCGTAATT	0.498																																																0													133	126	128					9																	131028577		2203	4300	6503	SO:0001587	stop_gained	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.589C>T	chr9.hg19:g.131028577G>A	ENSP00000416097:p.Gln197*		Q6GRM9|Q9BRB0|Q9NYF9	Nonsense_Mutation	SNP	ENST00000421699.2	hg19	CCDS6896.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.14|18.14	3.556608|3.556608	0.65425|0.65425	.|.	.|.	ENSG00000167110|ENSG00000167110	ENST00000421699;ENST00000450617|ENST00000458730	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76227	.|0.3958	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74842	.|-0.3527	.|3	0.45353|.	T|.	0.12|.	.|.	19.4623|19.4623	0.94922|0.94922	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	197;224|129	.|.	ENSP00000416097:Q197X|.	Q|S	-|-	1|2	0|0	GOLGA2|GOLGA2	130068398|130068398	1.000000|1.000000	0.71417|0.71417	0.612000|0.612000	0.29024|0.29024	0.034000|0.034000	0.12701|0.12701	6.353000|6.353000	0.73032|0.73032	2.663000|2.663000	0.90544|0.90544	0.558000|0.558000	0.71614|0.71614	CAG|TCA		0.498	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		A	131028577	G	A	131028577	4	1	472	1	0	0	0	0	0	1	0	0	6554	1299	45	2	2495	2	GOLGA2	9	131028577	Nonsense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08		131028577	10184854	33	25658											
UBAC1	10422	hgsc.bcm.edu	37	9	138839743	138839743	+	Silent	SNP	T	T	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr9:138839743T>C	ENST00000371756.3	-	4	559	c.342A>G	c.(340-342)caA>caG	p.Q114Q	UBAC1_ENST00000465873.1_5'Flank	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	114					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTTTCTGGTCTTGTTTTTTCT	0.517																																					NSCLC(78;973 1398 27381 29552 42415)											0													82	81	81					9																	138839743		2203	4300	6503	SO:0001819	synonymous_variant	10422			AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"ubiquitin associated domain containing 1"	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.342A>G	chr9.hg19:g.138839743T>C			O75500|Q9UMW7	Silent	SNP	ENST00000371756.3	hg19	CCDS35177.1																																																																																				0.517	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172		C	138839743	T	C	138839743	2	2	472	1	0	0	0	0	0	0	0	1	16839	1606	56	3		3	UBAC1	9	138839743	Silent	SNP	T	TCGA-BQ-7045-01A-31D-1961-08	7811166	138839743	2373688	34	25659											
OR4C15	81309	hgsc.bcm.edu	37	11	55322355	55322355	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr11:55322355G>C	ENST00000314644.2	+	1	573	c.573G>C	c.(571-573)agG>agC	p.R191S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCATGAACAGGAGGCTCTGTG	0.498										HNSCC(20;0.049)																																						0													103	99	100					11																	55322355		2201	4296	6497	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.573G>C	chr11.hg19:g.55322355G>C	ENSP00000324958:p.Arg191Ser		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	hg19	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328725	0.24167	.	.	ENSG00000181939	ENST00000314644	T	0.01347	4.99	5.12	1.75	0.24633	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02083	0.0065	L	0.56769	1.78	0.09310	N	1	B	0.30584	0.286	B	0.32677	0.15	T	0.42068	-0.9473	9	0.87932	D	0	.	4.8871	0.13708	0.2199:0.3168:0.4633:0.0	.	137	Q8NGM1	OR4CF_HUMAN	S	191	ENSP00000324958:R191S	ENSP00000324958:R191S	R	+	3	2	OR4C15	55078931	0.000000	0.05858	0.500000	0.27589	0.181000	0.23173	-1.112000	0.03299	0.549000	0.28973	0.385000	0.25706	AGG		0.498	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		C	55322355	G	C	55322355	3	2	472	1	0	0	0	0	1	0	0	0	11050	1165	41	4	575	4	OR4C15	11	55322355	Missense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08		55322355	79684161	35	25660											
C2CD3	26005	hgsc.bcm.edu	37	11	73745646	73745646	+	Intron	DEL	G	G	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr11:73745646delG	ENST00000334126.7	-	31	6108				C2CD3_ENST00000313663.7_Frame_Shift_Del_p.Y1963fs|C2CD3_ENST00000542452.1_5'Flank			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3						brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGTTACTTCAGTAACTACCTA	0.368																																																0													74	74	74					11																	73745646		2200	4293	6493	SO:0001627	intron_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5882-323C>-	chr11.hg19:g.73745646delG			C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Del	DEL	ENST00000334126.7	hg19																																																																																					0.368	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		-	73745646	G	-	73745646	6	5	472	0	1	1	0	1	0	0	0	0	2156	1024	36	0		0	C2CD3	11	73745646	Intron	DEL	G	TCGA-BQ-7045-01A-31D-1961-08	18423291	73745646	61260870	36	25661											
LRIG3	121227	hgsc.bcm.edu	37	12	59283874	59283874	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr12:59283874T>A	ENST00000320743.3	-	5	849	c.563A>T	c.(562-564)gAc>gTc	p.D188V	LRIG3_ENST00000379141.4_Missense_Mutation_p.D128V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	188					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GGCCAAATTGTCAAAATACCC	0.413			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													247	238	241					12																	59283874		2203	4300	6503	SO:0001583	missense	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.563A>T	chr12.hg19:g.59283874T>A	ENSP00000326759:p.Asp188Val		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	hg19	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961782	0.53400	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.57273	0.41;0.41;0.41	5.55	5.55	0.83447	.	0.000000	0.39020	N	0.001494	T	0.52041	0.1710	L	0.39692	1.235	0.80722	D	1	P;P	0.50528	0.593;0.936	B;P	0.48304	0.406;0.573	T	0.49312	-0.8953	9	.	.	.	.	15.6961	0.77499	0.0:0.0:0.0:1.0	.	128;188	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	V	128;188;95	ENSP00000368436:D128V;ENSP00000326759:D188V;ENSP00000449109:D95V	.	D	-	2	0	LRIG3	57570141	1.000000	0.71417	0.997000	0.53966	0.322000	0.28314	4.225000	0.58600	2.110000	0.64415	0.460000	0.39030	GAC		0.413	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		A	59283874	T	A	59283874	3	1	472	1	0	0	0	0	1	0	0	0	8948	1667	58	5	2856	5	LRIG3	12	59283874	Missense_Mutation	SNP	T	TCGA-BQ-7045-01A-31D-1961-08		59283874	74568021	37	25662											
GPC6	10082	hgsc.bcm.edu	37	13	94482740	94482740	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr13:94482740C>G	ENST00000377047.4	+	3	1268	c.653C>G	c.(652-654)gCc>gGc	p.A218G	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	218					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TTCATTGCTGCCAGGACCTTT	0.498																																																0													50	49	49					13																	94482740		2203	4300	6503	SO:0001583	missense	10082			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.653C>G	chr13.hg19:g.94482740C>G	ENSP00000366246:p.Ala218Gly		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	hg19	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161612	0.94727	.	.	ENSG00000183098	ENST00000377047	T	0.57907	0.37	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	M	0.87097	2.86	0.53688	D	0.999974	D;D	0.89917	1.0;0.999	D;D	0.81914	0.983;0.995	T	0.78288	-0.2262	10	0.46703	T	0.11	.	19.8022	0.96513	0.0:1.0:0.0:0.0	.	218;218	B4E2M1;Q9Y625	.;GPC6_HUMAN	G	218	ENSP00000366246:A218G	ENSP00000366246:A218G	A	+	2	0	GPC6	93280741	1.000000	0.71417	0.932000	0.37286	0.943000	0.58893	7.442000	0.80503	2.771000	0.95319	0.644000	0.83932	GCC		0.498	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		G	94482740	C	G	94482740	3	3	472	1	0	0	0	0	1	0	0	0	6604	739	26	4	663	4	GPC6	13	94482740	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08		94482740	20687138	38	25663											
RAP2A	5911	hgsc.bcm.edu	37	13	98086836	98086836	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr13:98086836G>A	ENST00000245304.4	+	1	361	c.112G>A	c.(112-114)Gac>Aac	p.D38N		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	38					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			CACCATCGAGGACTTCTACCG	0.627																																																0													114	107	109					13																	98086836		2203	4300	6503	SO:0001583	missense	5911			AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.112G>A	chr13.hg19:g.98086836G>A	ENSP00000245304:p.Asp38Asn		B2RCJ1|Q5JSC1|Q5JSC2	Missense_Mutation	SNP	ENST00000245304.4	hg19	CCDS9485.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299548	0.95574	.	.	ENSG00000125249	ENST00000245304	D	0.83335	-1.71	2.95	2.95	0.34219	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89111	0.6622	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90284	0.4317	10	0.66056	D	0.02	.	13.9659	0.64209	0.0:0.0:1.0:0.0	.	38	P10114	RAP2A_HUMAN	N	38	ENSP00000245304:D38N	ENSP00000245304:D38N	D	+	1	0	RAP2A	96884837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.055000	0.93873	1.673000	0.50895	0.484000	0.47621	GAC		0.627	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4			A	98086836	G	A	98086836	3	1	472	1	0	0	0	0	1	0	0	0	13046	1174	41	2	114	2	RAP2A	13	98086836	Missense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08	3604096	98086836	17083042	39	25664											
GPR18	2841	hgsc.bcm.edu	37	13	99907879	99907879	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr13:99907879G>A	ENST00000340807.3	-	3	804	c.248C>T	c.(247-249)gCa>gTa	p.A83V	UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.A83V|GPR18_ENST00000397473.2_Missense_Mutation_p.A83V|UBAC2_ENST00000376440.2_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	83					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TTCATCTTTTGCATAATAAAA	0.383																																																0													71	71	71					13																	99907879		2203	4300	6503	SO:0001583	missense	2841			L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"GPCR / Class A : Orphans"	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.248C>T	chr13.hg19:g.99907879G>A	ENSP00000343428:p.Ala83Val		Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	hg19	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	5.690	0.311943	0.10789	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807;ENST00000416594	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	6.07	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.322518	0.32328	N	0.006250	T	0.23054	0.0557	L	0.34521	1.04	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.18555	-1.0333	9	.	.	.	-5.3997	8.9019	0.35499	0.2064:0.3912:0.4024:0.0	.	83	Q14330	GPR18_HUMAN	V	83	ENSP00000380613:A83V;ENSP00000380610:A83V;ENSP00000343428:A83V;ENSP00000401611:A83V	.	A	-	2	0	GPR18	98705880	0.888000	0.30383	0.430000	0.26722	0.894000	0.52154	0.767000	0.26575	0.138000	0.18790	-0.137000	0.14449	GCA		0.383	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			A	99907879	G	A	99907879	3	1	472	1	0	0	0	0	1	0	0	0	6677	1319	46	2	751	2	GPR18	13	99907879	Missense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08	1821043	99907879	15261999	40	25665											
SNX6	58533	hgsc.bcm.edu	37	14	35062276	35062276	+	Silent	SNP	A	A	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr14:35062276A>T	ENST00000362031.4	-	8	759	c.729T>A	c.(727-729)tcT>tcA	p.S243S	SNX6_ENST00000355110.5_Silent_p.S119S|SNX6_ENST00000396526.3_Silent_p.S115S|SNX6_ENST00000396534.3_Silent_p.S115S	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	231					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		TCATTCTATCAGATTTAGCAG	0.299																																																0													73	71	72					14																	35062276		2203	4299	6502	SO:0001819	synonymous_variant	58533			AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"Sorting nexins"	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.729T>A	chr14.hg19:g.35062276A>T			C0H5W9|Q9Y449	Silent	SNP	ENST00000362031.4	hg19	CCDS41942.1																																																																																				0.299	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3			T	35062276	A	T	35062276	2	4	472	1	0	0	0	0	0	0	0	1	14912	175	7	5		5	SNX6	14	35062276	Silent	SNP	A	TCGA-BQ-7045-01A-31D-1961-08		35062276	72287264	41	25666											
CLEC14A	161198	hgsc.bcm.edu	37	14	38724316	38724316	+	Silent	SNP	C	C	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr14:38724316C>T	ENST00000342213.2	-	1	1258	c.912G>A	c.(910-912)agG>agA	p.R304R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	304						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCGGCGGGCGCCTGGTGGGCA	0.657																																																0													44	48	47					14																	38724316		2198	4289	6487	SO:0001819	synonymous_variant	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.912G>A	chr14.hg19:g.38724316C>T			Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	hg19	CCDS9667.1																																																																																				0.657	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		T	38724316	C	T	38724316	2	4	472	1	0	0	0	0	0	0	0	1	3501	738	26	2		2	CLEC14A	14	38724316	Silent	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	3662040	38724316	68625224	42	25667											
FERMT2	10979	hgsc.bcm.edu	37	14	53386065	53386065	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr14:53386065T>A	ENST00000395631.2	-	3	383	c.167A>T	c.(166-168)aAa>aTa	p.K56I	FERMT2_ENST00000399304.3_Missense_Mutation_p.K56I|FERMT2_ENST00000343279.4_Missense_Mutation_p.K56I|FERMT2_ENST00000341590.3_Missense_Mutation_p.K56I|FERMT2_ENST00000553373.1_Missense_Mutation_p.K56I			Q96AC1	FERM2_HUMAN	fermitin family member 2	56	Interaction with membranes containing phosphatidylinositol phosphate.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AGACCAATCTTTTTTTACATC	0.333																																																0													73	72	73					14																	53386065		2203	4300	6503	SO:0001583	missense	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.167A>T	chr14.hg19:g.53386065T>A	ENSP00000378993:p.Lys56Ile		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	hg19	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478457	0.84747	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000555692;ENST00000554712	T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	M	0.62723	1.935	0.80722	D	1	P;B;B	0.35542	0.508;0.375;0.078	P;B;B	0.45998	0.5;0.248;0.042	T	0.00621	-1.1640	10	0.42905	T	0.14	.	16.1966	0.82029	0.0:0.0:0.0:1.0	.	56;56;56	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	I	56;56;56;56;56;12;56	ENSP00000378993:K56I;ENSP00000340391:K56I;ENSP00000342858:K56I;ENSP00000451084:K56I;ENSP00000382243:K56I;ENSP00000452472:K12I;ENSP00000450506:K56I	ENSP00000340391:K56I	K	-	2	0	FERMT2	52455815	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.291000	0.72719	2.232000	0.73038	0.528000	0.53228	AAA		0.333	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		A	53386065	T	A	53386065	3	1	472	1	0	0	0	0	1	0	0	0	5820	1841	64	5	1964	5	FERMT2	14	53386065	Missense_Mutation	SNP	T	TCGA-BQ-7045-01A-31D-1961-08	14661749	53386065	53963475	43	25668											
DYNC1H1	1778	hgsc.bcm.edu	37	14	102466716	102466716	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr14:102466716G>A	ENST00000360184.4	+	18	4218	c.4054G>A	c.(4054-4056)Gtt>Att	p.V1352I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1352	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAACCCTGGGTTTCAGTACA	0.428																																																0													115	116	116					14																	102466716		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4054G>A	chr14.hg19:g.102466716G>A	ENSP00000348965:p.Val1352Ile		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089051	0.55968	.	.	ENSG00000197102	ENST00000360184	T	0.28666	1.6	5.64	5.64	0.86602	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	N	0.03983	-0.305	0.80722	D	1	B	0.29646	0.253	B	0.33960	0.173	T	0.14755	-1.0461	10	0.16896	T	0.51	.	20.0769	0.97748	0.0:0.0:1.0:0.0	.	1352	Q14204	DYHC1_HUMAN	I	1352	ENSP00000348965:V1352I	ENSP00000348965:V1352I	V	+	1	0	DYNC1H1	101536469	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	8.001000	0.88508	2.820000	0.97059	0.650000	0.86243	GTT		0.428	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102466716	G	A	102466716	3	1	472	1	0	0	0	0	1	0	0	0	4843	1261	44	2	4124	2	DYNC1H1	14	102466716	Missense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08	49080651	102466716	4882824	44	25669											
ATP10A	57194	hgsc.bcm.edu	37	15	25924510	25924510	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr15:25924510G>A	ENST00000356865.6	-	21	4589	c.4478C>T	c.(4477-4479)gCa>gTa	p.A1493V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1493					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCTTGAAGATGCTCCTATAAG	0.423																																																0													57	61	60					15																	25924510		2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4478C>T	chr15.hg19:g.25924510G>A	ENSP00000349325:p.Ala1493Val		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	hg19	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386201	0.42308	.	.	ENSG00000206190	ENST00000356865	T	0.10477	2.87	4.74	3.76	0.43208	.	10.878000	0.00166	N	0.000006	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	B	0.30482	0.281	B	0.22601	0.04	T	0.16129	-1.0413	10	0.46703	T	0.11	-3.4971	12.1728	0.54167	0.0:0.0:0.7797:0.2203	.	1493	O60312	AT10A_HUMAN	V	1493	ENSP00000349325:A1493V	ENSP00000349325:A1493V	A	-	2	0	ATP10A	23475603	0.618000	0.27051	0.010000	0.14722	0.250000	0.25880	1.852000	0.39348	2.475000	0.83589	0.655000	0.94253	GCA		0.423	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		A	25924510	G	A	25924510	3	1	472	1	0	0	0	0	1	0	0	0	1116	1319	46	2	25	2	ATP10A	15	25924510	Missense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08		25924510	76606882	45	25670											
HAPLN3	145864	hgsc.bcm.edu	37	15	89422488	89422488	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr15:89422488delG	ENST00000359595.3	-	4	720	c.506delC	c.(505-507)cctfs	p.P169fs	HAPLN3_ENST00000562889.1_Frame_Shift_Del_p.P231fs	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	169	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GGACTGGTAAGGAAAGACCAC	0.632											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													36	41	39					15																	89422488		2200	4299	6499	SO:0001589	frameshift_variant	145864			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.506delC	chr15.hg19:g.89422488delG	ENSP00000352606:p.Pro169fs	1267	A8K7P0	Frame_Shift_Del	DEL	ENST00000359595.3	hg19	CCDS10346.1																																																																																				0.632	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		-	89422488	G	-	89422488	7	5	472	1	0	1	0	1	0	0	0	0	6958	1000	35	0	584	0	HAPLN3	15	89422488	Frame_Shift_Del	DEL	G	TCGA-BQ-7045-01A-31D-1961-08	63497978	89422488	13108904	46	25671											
ZNF598	90850	hgsc.bcm.edu	37	16	2052644	2052644	+	Silent	SNP	C	C	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr16:2052644C>T	ENST00000563630.1	-	4	632	c.390G>A	c.(388-390)ggG>ggA	p.G130G	ZNF598_ENST00000431526.1_Silent_p.G185G|ZNF598_ENST00000562103.1_Silent_p.G130G			Q86UK7	ZN598_HUMAN	zinc finger protein 598	185							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AGAGCGGGTGCCCACGGTGCG	0.602																																																0													50	58	55					16																	2052644		2169	4266	6435	SO:0001819	synonymous_variant	90850			BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.390G>A	chr16.hg19:g.2052644C>T			Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	hg19																																																																																					0.602	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		T	2052644	C	T	2052644	2	4	472	1	0	0	0	0	0	0	0	1	18033	726	26	2		2	ZNF598	16	2052644	Silent	SNP	C	TCGA-BQ-7045-01A-31D-1961-08		2052644	88302109	47	25672											
CLUAP1	23059	hgsc.bcm.edu	37	16	3554721	3554721	+	Splice_Site	SNP	T	T	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr16:3554721T>C	ENST00000576634.1	+	2	168	c.24T>C	c.(22-24)aaT>aaC	p.N8N	CLUAP1_ENST00000571025.1_Splice_Site_p.N8N|CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000341633.5_Splice_Site_p.N8N|LA16c-306E5.3_ENST00000574423.2_RNA	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	8					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						CTTGGACAGATTTCACAGAGA	0.383																																																0													106	103	104					16																	3554721		2197	4300	6497	SO:0001630	splice_region_variant	23059			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"Intraflagellar transport homologs"	19009	protein-coding gene	gene with protein product	"flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)", "cilia and flagella associated protein 22"					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.23-1T>C	chr16.hg19:g.3554721T>C			O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	hg19	CCDS32381.1																																																																																				0.383	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793	Silent	C	3554721	T	C	3554721	5	2	472	1	0	0	0	0	0	0	1	0	3571	1507	52	3	30	3	CLUAP1	16	3554721	Splice_Site	SNP	T	TCGA-BQ-7045-01A-31D-1961-08	1502077	3554721	86800032	48	25673											
TIAF1	9220	hgsc.bcm.edu	37	17	27400954	27400954	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr17:27400954C>G	ENST00000359450.6	-	1	4921	c.264G>C	c.(262-264)agG>agC	p.R88S	MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.R88S|MYO18A_ENST00000354329.4_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	88					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTGGATCAGCCCTGAACTGCT	0.532																																																0													166	140	149					17																	27400954		2203	4300	6503	SO:0001583	missense	9220			AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.264G>C	chr17.hg19:g.27400954C>G	ENSP00000352424:p.Arg88Ser		A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	hg19	CCDS32599.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152934	0.38021	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.22666	0.0547	N	0.08118	0	0.23577	N	0.997377	P	0.35363	0.497	B	0.31016	0.123	T	0.26985	-1.0087	8	0.87932	D	0	.	16.3692	0.83347	0.0:1.0:0.0:0.0	.	88	O95411	TIAF1_HUMAN	S	88	.	ENSP00000386130:R88S	R	-	3	2	TIAF1	24425080	0.786000	0.28738	0.969000	0.41365	0.843000	0.47879	3.603000	0.54074	2.894000	0.99253	0.655000	0.94253	AGG		0.532	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		G	27400954	C	G	27400954	3	3	472	1	0	0	0	0	1	0	0	0	15893	622	22	4	87	4	TIAF1	17	27400954	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08		27400954	53794256	49	25674											
TMEM101	84336	hgsc.bcm.edu	37	17	42089524	42089524	+	Silent	SNP	C	C	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr17:42089524C>T	ENST00000589334.1	-	5	861	c.546G>A	c.(544-546)ctG>ctA	p.L182L	TMEM101_ENST00000206380.3_Silent_p.L182L|TMEM101_ENST00000542039.1_Silent_p.L124L			Q96IK0	TM101_HUMAN	transmembrane protein 101	182					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCACGAAGAACAGCTGGATCA	0.587																																																0													112	95	100					17																	42089524		2203	4300	6503	SO:0001819	synonymous_variant	84336			AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.546G>A	chr17.hg19:g.42089524C>T			B2R9N6	Silent	SNP	ENST00000589334.1	hg19	CCDS11474.1																																																																																				0.587	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	NM_032376		T	42089524	C	T	42089524	2	4	472	1	0	0	0	0	0	0	0	1	16021	465	17	2		2	TMEM101	17	42089524	Silent	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	14688570	42089524	39105686	50	25675											
BZRAP1	9256	hgsc.bcm.edu	37	17	56386306	56386306	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr17:56386306G>T	ENST00000343736.4	-	22	4490	c.4327C>A	c.(4327-4329)Ctg>Atg	p.L1443M	BZRAP1_ENST00000355701.3_Missense_Mutation_p.L1443M|BZRAP1_ENST00000268893.6_Missense_Mutation_p.L1383M			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1443						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGGGGCCCAGTCGTCCAGAG	0.692																																																0													27	34	32					17																	56386306		2173	4260	6433	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4327C>A	chr17.hg19:g.56386306G>T	ENSP00000345824:p.Leu1443Met		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	hg19	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	7.586	0.669756	0.14776	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04758	3.56;3.56;3.56	5.31	2.94	0.34122	.	0.632124	0.16677	N	0.204129	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B;B;B	0.31519	0.327;0.106;0.064	B;B;B	0.28232	0.087;0.015;0.006	T	0.42899	-0.9424	10	0.72032	D	0.01	.	10.1566	0.42827	0.1877:0.0:0.8123:0.0	.	1443;1383;1443	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	M	1443;1443;1383	ENSP00000347929:L1443M;ENSP00000345824:L1443M;ENSP00000268893:L1383M	ENSP00000268893:L1383M	L	-	1	2	BZRAP1	53741305	1.000000	0.71417	0.155000	0.22561	0.518000	0.34316	2.879000	0.48522	1.233000	0.43693	0.563000	0.77884	CTG		0.692	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		T	56386306	G	T	56386306	3	4	472	1	0	0	0	0	1	0	0	0	1579	1020	36	4	1286	4	BZRAP1	17	56386306	Missense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08	14296782	56386306	24808904	51	25676											
KCNH6	81033	hgsc.bcm.edu	37	17	61623123	61623123	+	Silent	SNP	C	C	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr17:61623123C>T	ENST00000583023.1	+	14	2856	c.2845C>T	c.(2845-2847)Cta>Tta	p.L949L	KCNH6_ENST00000581784.1_Silent_p.L860L|KCNH6_ENST00000314672.5_Silent_p.L913L|KCNH6_ENST00000456941.2_Silent_p.L860L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	949					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L949V(1)|p.L949I(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGCCTCACCTCTACATCCCCT	0.587																																																2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											122	113	116					17																	61623123		2203	4300	6503	SO:0001819	synonymous_variant	81033			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2845C>T	chr17.hg19:g.61623123C>T			Q9BRD7	Silent	SNP	ENST00000583023.1	hg19	CCDS11638.1																																																																																				0.587	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		T	61623123	C	T	61623123	2	4	472	1	0	0	0	0	0	0	0	1	8038	912	32	2		2	KCNH6	17	61623123	Silent	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	5236817	61623123	19572087	52	25677											
THOC1	9984	hgsc.bcm.edu	37	18	214909	214909	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr18:214909C>A	ENST00000261600.6	-	21	1698	c.1691G>T	c.(1690-1692)cGg>cTg	p.R564L		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	564					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTGTCTCGCCGAACATCAGG	0.388																																																0													140	136	137					18																	214909		1844	4089	5933	SO:0001583	missense	9984			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1691G>T	chr18.hg19:g.214909C>A	ENSP00000261600:p.Arg564Leu		B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	hg19	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	C	8.710	0.911843	0.17907	.	.	ENSG00000079134	ENST00000261600	D	0.92699	-3.09	6.03	4.23	0.50019	Death (1);DEATH-like (2);	0.111699	0.64402	D	0.000009	D	0.84902	0.5575	L	0.29908	0.895	0.38420	D	0.946166	B	0.09022	0.002	B	0.10450	0.005	T	0.79827	-0.1639	10	0.29301	T	0.29	-8.2798	8.0093	0.30344	0.0:0.6786:0.0:0.3213	.	564	Q96FV9	THOC1_HUMAN	L	564	ENSP00000261600:R564L	ENSP00000261600:R564L	R	-	2	0	THOC1	204909	0.998000	0.40836	0.997000	0.53966	0.995000	0.86356	2.971000	0.49248	1.560000	0.49568	-0.150000	0.13652	CGG		0.388	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		A	214909	C	A	214909	3	1	472	1	0	0	0	0	1	0	0	0	15869	652	23	4	286	4	THOC1	18	214909	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08		214909	77862339	53	25678											
ANKRD12	23253	hgsc.bcm.edu	37	18	9257291	9257291	+	Silent	SNP	T	T	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr18:9257291T>C	ENST00000262126.4	+	9	4266	c.4026T>C	c.(4024-4026)acT>acC	p.T1342T	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Silent_p.T1319T|ANKRD12_ENST00000383440.2_Silent_p.T1319T	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1342						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CAGGAGATACTAGTCCTTCTC	0.398																																																0													122	117	119					18																	9257291		2203	4300	6503	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.4026T>C	chr18.hg19:g.9257291T>C			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	hg19	CCDS11843.1																																																																																				0.398	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		C	9257291	T	C	9257291	2	2	472	1	0	0	0	0	0	0	0	1	640	1509	53	3		3	ANKRD12	18	9257291	Silent	SNP	T	TCGA-BQ-7045-01A-31D-1961-08	9042382	9257291	68819957	54	25679											
ASXL3	80816	hgsc.bcm.edu	37	18	31263418	31263418	+	Silent	SNP	A	A	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr18:31263418A>G	ENST00000269197.5	+	8	765	c.765A>G	c.(763-765)ggA>ggG	p.G255G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAACCCCAGGATCTATTCTTG	0.418																																																0													109	106	107					18																	31263418		1872	4099	5971	SO:0001819	synonymous_variant	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.765A>G	chr18.hg19:g.31263418A>G			Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	hg19	CCDS45847.1																																																																																				0.418	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			G	31263418	A	G	31263418	2	3	472	1	0	0	0	0	0	0	0	1	1068	320	12	3		3	ASXL3	18	31263418	Silent	SNP	A	TCGA-BQ-7045-01A-31D-1961-08	22006127	31263418	46813830	55	25680											
ELAC1	55520	hgsc.bcm.edu	37	18	48513160	48513160	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr18:48513160G>C	ENST00000269466.3	+	4	904	c.797G>C	c.(796-798)tGc>tCc	p.C266S	RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000588577.1_3'UTR|RP11-729L2.2_ENST00000590722.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	266					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		GTAAAACTGTGCTTTGAAGCA	0.478																																																0													96	85	89					18																	48513160		2203	4300	6503	SO:0001583	missense	55520			AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"tRNA Z (short form)", "RNaseZ(S)"	608079	"elaC (E. coli) homolog 1", "elaC homolog 1 (E. coli)"			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.797G>C	chr18.hg19:g.48513160G>C	ENSP00000269466:p.Cys266Ser		Q9NS99	Missense_Mutation	SNP	ENST00000269466.3	hg19	CCDS11949.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725203	0.68959	.	.	ENSG00000141642	ENST00000269466	T	0.76060	-0.99	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	L	0.28458	0.855	0.80722	D	1	P	0.37423	0.594	B	0.42959	0.403	T	0.69300	-0.5181	10	0.37606	T	0.19	.	18.233	0.89939	0.0:0.0:1.0:0.0	.	266	Q9H777	RNZ1_HUMAN	S	266	ENSP00000269466:C266S	ENSP00000269466:C266S	C	+	2	0	ELAC1	46767158	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.916000	0.92745	2.597000	0.87782	0.655000	0.94253	TGC		0.478	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2			C	48513160	G	C	48513160	3	2	472	1	0	0	0	0	1	0	0	0	5048	1319	46	4	807	4	ELAC1	18	48513160	Missense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08	17249742	48513160	29564088	56	25681											
ZNF763	284390	hgsc.bcm.edu	37	19	12089881	12089881	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr19:12089881T>C	ENST00000358987.3	+	4	1269	c.1142T>C	c.(1141-1143)tTt>tCt	p.F381S	ZNF763_ENST00000545530.1_Missense_Mutation_p.F259S|ZNF763_ENST00000590798.1_Missense_Mutation_p.F401S|ZNF763_ENST00000343949.5_Missense_Mutation_p.F384S|ZNF763_ENST00000538752.1_Missense_Mutation_p.F401S			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TCTTATAAGTTTTCAAACACA	0.398																																																0													67	73	71					19																	12089881		2180	4294	6474	SO:0001583	missense	284390			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.1142T>C	chr19.hg19:g.12089881T>C	ENSP00000402017:p.Phe381Ser		B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	hg19		.	.	.	.	.	.	.	.	.	.	t	0	-2.724828	0.00091	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.06068	3.45;3.44;3.35;3.45	0.855	-1.71	0.08133	.	.	.	.	.	T	0.01254	0.0041	N	0.00060	-2.34	0.09310	N	1	B;P;B	0.35774	0.018;0.519;0.018	B;P;B	0.45449	0.004;0.481;0.004	T	0.22695	-1.0209	9	0.02654	T	1	.	2.0667	0.03604	0.2548:0.2103:0.0:0.5349	.	401;381;384	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	S	401;384;259;381	ENSP00000438117:F401S;ENSP00000369774:F384S;ENSP00000446166:F259S;ENSP00000402017:F381S	ENSP00000369774:F384S	F	+	2	0	ZNF763	11950881	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.148000	0.16224	-1.202000	0.02655	0.155000	0.16302	TTT		0.398	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		C	12089881	T	C	12089881	3	2	472	1	0	0	0	0	1	0	0	0	18142	1841	64	3	1165	3	ZNF763	19	12089881	Missense_Mutation	SNP	T	TCGA-BQ-7045-01A-31D-1961-08		12089881	47039102	57	25682											
ZSWIM4	65249	hgsc.bcm.edu	37	19	13915960	13915960	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr19:13915960A>G	ENST00000254323.2	+	3	899	c.710A>G	c.(709-711)aAt>aGt	p.N237S	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	237							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AACTTGGTGAATGGTAAGGGC	0.607											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													35	34	34					19																	13915960		2203	4299	6502	SO:0001583	missense	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.710A>G	chr19.hg19:g.13915960A>G	ENSP00000254323:p.Asn237Ser	691		Missense_Mutation	SNP	ENST00000254323.2	hg19	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	A	7.710	0.695019	0.15039	.	.	ENSG00000132003	ENST00000254323	T	0.21191	2.02	4.81	4.81	0.61882	.	0.093972	0.43747	D	0.000522	T	0.10337	0.0253	N	0.05441	-0.05	0.80722	D	1	B	0.16802	0.019	B	0.18561	0.022	T	0.14144	-1.0483	10	0.10377	T	0.69	-33.1503	12.3201	0.54979	1.0:0.0:0.0:0.0	.	237	Q9H7M6	ZSWM4_HUMAN	S	237	ENSP00000254323:N237S	ENSP00000254323:N237S	N	+	2	0	ZSWIM4	13776960	1.000000	0.71417	0.941000	0.38009	0.192000	0.23643	8.632000	0.90995	1.806000	0.52798	0.459000	0.35465	AAT		0.607	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		G	13915960	A	G	13915960	3	3	472	1	0	0	0	0	1	0	0	0	18248	101	4	3	720	3	ZSWIM4	19	13915960	Missense_Mutation	SNP	A	TCGA-BQ-7045-01A-31D-1961-08	1826079	13915960	45213023	58	25683											
JAK3	3718	hgsc.bcm.edu	37	19	17946018	17946018	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr19:17946018T>C	ENST00000527670.1	-	14	1950	c.1921A>G	c.(1921-1923)Aaa>Gaa	p.K641E	JAK3_ENST00000534444.1_Missense_Mutation_p.K641E|JAK3_ENST00000458235.1_Missense_Mutation_p.K641E			P52333	JAK3_HUMAN	Janus kinase 3	641	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGCAGGCCTTTGTCCTCCTAA	0.577		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													24	27	26					19																	17946018		2203	4300	6503	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1921A>G	chr19.hg19:g.17946018T>C	ENSP00000432511:p.Lys641Glu		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	hg19	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561092	0.65538	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.83837	-1.77;-1.77;-1.77	5.32	5.32	0.75619	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.244952	0.39985	N	0.001215	D	0.88998	0.6590	M	0.67569	2.06	0.45439	D	0.998412	D;P	0.65815	0.995;0.931	D;P	0.66497	0.944;0.816	D	0.90111	0.4192	10	0.87932	D	0	-10.7087	13.227	0.59921	0.0:0.0:0.0:1.0	.	641;641	P52333-2;P52333	.;JAK3_HUMAN	E	641	ENSP00000391676:K641E;ENSP00000432511:K641E;ENSP00000436421:K641E	ENSP00000391676:K641E	K	-	1	0	JAK3	17807018	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	5.606000	0.67641	2.009000	0.58944	0.454000	0.30748	AAA		0.577	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		C	17946018	T	C	17946018	3	2	472	1	0	0	0	0	1	0	0	0	7941	1821	63	3	1493	3	JAK3	19	17946018	Missense_Mutation	SNP	T	TCGA-BQ-7045-01A-31D-1961-08	4030058	17946018	41182965	59	25684											
ZNF566	84924	hgsc.bcm.edu	37	19	36940231	36940231	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr19:36940231T>C	ENST00000434377.2	-	5	986	c.905A>G	c.(904-906)cAg>cGg	p.Q302R	ZNF566_ENST00000493391.1_Missense_Mutation_p.Q198R|ZNF566_ENST00000392170.2_Missense_Mutation_p.Q303R|ZNF566_ENST00000454319.1_Missense_Mutation_p.Q303R|ZNF566_ENST00000424129.2_Missense_Mutation_p.Q302R	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					ATGAATTCTCTGATGTTGAGT	0.403																																																0													80	81	80					19																	36940231		2203	4300	6503	SO:0001583	missense	84924			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"Zinc fingers, C2H2-type", "-"	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.905A>G	chr19.hg19:g.36940231T>C	ENSP00000415520:p.Gln302Arg		B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	hg19	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116877	0.37339	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000695	T	0.15089	0.0364	N	0.02345	-0.59	0.26120	N	0.980568	D;D	0.63880	0.981;0.993	P;D	0.72338	0.816;0.977	T	0.04976	-1.0914	10	0.62326	D	0.03	.	7.8932	0.29691	0.1845:0.0:0.0:0.8155	.	303;302	B7ZL95;Q969W8	.;ZN566_HUMAN	R	303;302;303;302	ENSP00000394207:Q303R;ENSP00000415520:Q302R;ENSP00000376010:Q303R;ENSP00000401259:Q302R	ENSP00000376010:Q303R	Q	-	2	0	ZNF566	41632071	0.888000	0.30383	1.000000	0.80357	0.985000	0.73830	1.423000	0.34837	1.775000	0.52247	0.454000	0.30748	CAG		0.403	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		C	36940231	T	C	36940231	3	2	472	1	0	0	0	0	1	0	0	0	18002	1580	55	3	355	3	ZNF566	19	36940231	Missense_Mutation	SNP	T	TCGA-BQ-7045-01A-31D-1961-08	18994213	36940231	22188752	60	25685											
ZNF787	126208	hgsc.bcm.edu	37	19	56599455	56599455	+	Missense_Mutation	SNP	C	C	G	rs202243737	byFrequency	TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr19:56599455C>G	ENST00000270459.3	-	3	1204	c.1086G>C	c.(1084-1086)gaG>gaC	p.E362D		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGTCGTCGTCCTCCTCCTCCC	0.786													c|||	31	0.0061901	0.0174	0.0086	5008	,	,		3491	0.0		0.002	False		,,,				2504	0.0															0													5	6	6					19																	56599455		1716	3706	5422	SO:0001583	missense	126208			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.1086G>C	chr19.hg19:g.56599455C>G	ENSP00000270459:p.Glu362Asp		O00455	Missense_Mutation	SNP	ENST00000270459.3	hg19	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	c	2.272	-0.366767	0.05069	.	.	ENSG00000142409	ENST00000270459	T	0.06687	3.27	1.38	0.235	0.15431	.	.	.	.	.	T	0.02688	0.0081	N	0.02539	-0.55	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.48222	-0.9054	9	0.15066	T	0.55	-9.261	5.3742	0.16156	0.0:0.4529:0.5471:0.0	.	362	Q6DD87	ZN787_HUMAN	D	362	ENSP00000270459:E362D	ENSP00000270459:E362D	E	-	3	2	ZNF787	61291267	0.001000	0.12720	0.020000	0.16555	0.393000	0.30537	-0.022000	0.12480	0.167000	0.19631	0.494000	0.49563	GAG		0.786	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		G	56599455	C	G	56599455	3	3	472	1	0	0	0	0	1	0	0	0	18164	680	24	4	69	4	ZNF787	19	56599455	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	19659224	56599455	2529528	61	25686											
SALL4	57167	hgsc.bcm.edu	37	20	50405586	50405586	+	Silent	SNP	G	G	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr20:50405586G>A	ENST00000217086.4	-	3	2667	c.2556C>T	c.(2554-2556)tcC>tcT	p.S852S	SALL4_ENST00000395997.3_Silent_p.S415S|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Silent_p.S75S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	852					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCATCCCTGGGGACAATGTCG	0.577																																																0													57	54	55					20																	50405586		2203	4300	6503	SO:0001819	synonymous_variant	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2556C>T	chr20.hg19:g.50405586G>A			A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	hg19	CCDS13438.1																																																																																				0.577	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			A	50405586	G	A	50405586	2	1	472	1	0	0	0	0	0	0	0	1	13819	1219	43	2		2	SALL4	20	50405586	Silent	SNP	G	TCGA-BQ-7045-01A-31D-1961-08		50405586	12619934	62	25687											
KRTAP13-1	140258	hgsc.bcm.edu	37	21	31768620	31768620	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr21:31768620G>T	ENST00000355459.2	+	1	229	c.216G>T	c.(214-216)gaG>gaT	p.E72D		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	72	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTATGTGGAGTCCAGCCCCT	0.602																																																0													60	61	61					21																	31768620		2203	4300	6503	SO:0001583	missense	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.216G>T	chr21.hg19:g.31768620G>T	ENSP00000347635:p.Glu72Asp		Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	hg19	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890413	0.33348	.	.	ENSG00000198390	ENST00000355459	T	0.03982	3.74	4.51	0.568	0.17333	.	1.594350	0.04748	N	0.423995	T	0.09158	0.0226	M	0.68317	2.08	0.09310	N	1	P	0.46784	0.884	P	0.48334	0.574	T	0.32079	-0.9920	10	0.20046	T	0.44	.	3.3017	0.06985	0.2615:0.0:0.4305:0.308	.	72	Q8IUC0	KR131_HUMAN	D	72	ENSP00000347635:E72D	ENSP00000347635:E72D	E	+	3	2	KRTAP13-1	30690491	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	0.172000	0.16704	0.089000	0.17243	0.557000	0.71058	GAG		0.602	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			T	31768620	G	T	31768620	3	4	472	1	0	0	0	0	1	0	0	0	8524	1020	36	4	218	4	KRTAP13-1	21	31768620	Missense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08		31768620	16361275	63	25688											
DNAJC28	54943	hgsc.bcm.edu	37	21	34861049	34861050	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr21:34861049_34861050insA	ENST00000314399.3	-	2	1089_1090	c.651_652insT	c.(649-654)tttgacfs	p.D218fs	DNAJC28_ENST00000402202.1_Frame_Shift_Ins_p.D218fs|DNAJC28_ENST00000381947.3_Frame_Shift_Ins_p.D218fs	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	218										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTGAGATTGTCAAAGTCTCCTT	0.386																																																0																																										SO:0001589	frameshift_variant	54943			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"Heat shock proteins / DNAJ (HSP40)"	1297	protein-coding gene	gene with protein product	"Orf28"		"chromosome 21 open reading frame 55"	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.652dupT	chr21.hg19:g.34861052_34861052dupA	ENSP00000320303:p.Asp218fs		D3DSF2	Frame_Shift_Ins	INS	ENST00000314399.3	hg19	CCDS13626.1																																																																																				0.386	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3			A	34861050	-	A	34861049	7	5	472	1	0	1	1	0	0	0	0	0	4648	826	29	0	518	0	DNAJC28	21	34861049	Frame_Shift_Ins	INS	-	TCGA-BQ-7045-01A-31D-1961-08	3092429	34861049	13268846	64	25689											
NDUFV3	4731	hgsc.bcm.edu	37	21	44317078	44317078	+	Silent	SNP	T	T	C			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr21:44317078T>C	ENST00000340344.4	+	2	156	c.90T>C	c.(88-90)tcT>tcC	p.S30S	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Silent_p.S30S	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	30					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)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		GACTTGCTTCTACGGTTTCTT	0.413																																																0													87	86	86					21																	44317078		2203	4300	6503	SO:0001819	synonymous_variant	4731				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.90T>C	chr21.hg19:g.44317078T>C			A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Silent	SNP	ENST00000340344.4	hg19	CCDS33573.1																																																																																				0.413	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			C	44317078	T	C	44317078	2	2	472	1	0	0	0	0	0	0	0	1	10303	1509	53	3		3	NDUFV3	21	44317078	Silent	SNP	T	TCGA-BQ-7045-01A-31D-1961-08	9456029	44317078	3812817	65	25690											
PPM1F	9647	hgsc.bcm.edu	37	22	22287929	22287929	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr22:22287929A>G	ENST00000263212.5	-	5	686	c.581T>C	c.(580-582)tTt>tCt	p.F194S	PPM1F_ENST00000407142.1_Missense_Mutation_p.F26S|PPM1F_ENST00000397495.4_Missense_Mutation_p.F194S|PPM1F_ENST00000538191.1_Missense_Mutation_p.F90S	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	194					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AAACACAGCAAAGTAGGCGCG	0.667																																																0													61	52	55					22																	22287929		2203	4300	6503	SO:0001583	missense	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.581T>C	chr22.hg19:g.22287929A>G	ENSP00000263212:p.Phe194Ser		A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	hg19	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789526	0.50102	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495;ENST00000445205	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	4.95	4.95	0.65309	Protein phosphatase 2C-like (5);	0.052935	0.85682	D	0.000000	T	0.46678	0.1405	M	0.92555	3.32	0.48040	D	0.999577	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.60131	-0.7323	10	0.87932	D	0	-0.6926	14.4382	0.67296	1.0:0.0:0.0:0.0	.	90;194;194	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	S	194;26;26;90;194;26	ENSP00000263212:F194S;ENSP00000384930:F26S;ENSP00000439915:F90S;ENSP00000380632:F194S;ENSP00000392372:F26S	ENSP00000263212:F194S	F	-	2	0	PPM1F	20617929	1.000000	0.71417	0.992000	0.48379	0.088000	0.18126	3.605000	0.54088	2.077000	0.62373	0.454000	0.30748	TTT		0.667	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		G	22287929	A	G	22287929	3	3	472	1	0	0	0	0	1	0	0	0	12344	14	1	3	799	3	PPM1F	22	22287929	Missense_Mutation	SNP	A	TCGA-BQ-7045-01A-31D-1961-08		22287929	29016637	66	25691											
SFI1	9814	hgsc.bcm.edu	37	22	31924806	31924806	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr22:31924806C>T	ENST00000400288.2	+	3	328	c.223C>T	c.(223-225)Cat>Tat	p.H75Y	SFI1_ENST00000443326.1_Intron|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000432498.1_Missense_Mutation_p.H75Y|SFI1_ENST00000540643.1_Missense_Mutation_p.H75Y	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	75					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TCGTGGCACACATACTTGTAC	0.483																																																0													121	114	116					22																	31924806		1992	4175	6167	SO:0001583	missense	9814			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.223C>T	chr22.hg19:g.31924806C>T	ENSP00000383145:p.His75Tyr		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	hg19	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	6.278	0.419420	0.11928	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000421060;ENST00000444859;ENST00000400288;ENST00000450787	T;T;T;T;T	0.32515	3.32;3.02;1.45;3.33;2.1	4.26	-0.0926	0.13656	.	0.718935	0.12712	N	0.445472	T	0.12135	0.0295	N	0.08118	0	0.09310	N	1	B;B;B;B	0.22746	0.005;0.012;0.004;0.074	B;B;B;B	0.23018	0.004;0.009;0.006;0.043	T	0.36335	-0.9752	10	0.10377	T	0.69	.	6.4426	0.21859	0.0:0.5881:0.0:0.4119	.	75;75;75;75	A8K8P3-9;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;SFI1_HUMAN;.	Y	75;75;75;75;75;26	ENSP00000402679:H75Y;ENSP00000443025:H75Y;ENSP00000411793:H75Y;ENSP00000383145:H75Y;ENSP00000389364:H26Y	ENSP00000383145:H75Y	H	+	1	0	SFI1	30254806	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.236000	0.17967	0.079000	0.16929	-0.237000	0.12165	CAT		0.483	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		T	31924806	C	T	31924806	3	4	472	1	0	0	0	0	1	0	0	0	14162	478	17	2	229	2	SFI1	22	31924806	Missense_Mutation	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	9636877	31924806	19379760	67	25692											
APOL1	8542	hgsc.bcm.edu	37	22	36661665	36661665	+	Silent	SNP	C	C	T			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chr22:36661665C>T	ENST00000397278.3	+	6	1012	c.783C>T	c.(781-783)aaC>aaT	p.N261N	APOL1_ENST00000319136.4_Silent_p.N277N|APOL1_ENST00000347595.7_Silent_p.N140N|APOL1_ENST00000422706.1_Silent_p.N261N|APOL1_ENST00000426053.1_Silent_p.N243N|APOL1_ENST00000397279.4_Silent_p.N261N	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	261					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TGGGTGAGAACATATCCAACT	0.498																																																0													123	114	117					22																	36661665		2203	4300	6503	SO:0001819	synonymous_variant	8542			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"Apolipoproteins"	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.783C>T	chr22.hg19:g.36661665C>T			A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Silent	SNP	ENST00000397278.3	hg19	CCDS13926.1																																																																																				0.498	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		T	36661665	C	T	36661665	2	4	472	1	0	0	0	0	0	0	0	1	805	477	17	2		2	APOL1	22	36661665	Silent	SNP	C	TCGA-BQ-7045-01A-31D-1961-08	4736859	36661665	14642901	68	25693											
RPL10	6134	hgsc.bcm.edu	37	X	153627911	153627911	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7045-01A-31D-1961-08	TCGA-BQ-7045-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	413a9e10-cac7-4b6c-91cd-b58fd4499c07	0ed1c015-2f52-4269-98d4-b78e9323f29c	g.chrX:153627911G>A	ENST00000369817.2	+	5	742	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	RPL10_ENST00000406022.2_Missense_Mutation_p.E5K|RPL10_ENST00000424325.2_Missense_Mutation_p.E56K|SNORA70_ENST00000384436.1_RNA			P27635	RL10_HUMAN	ribosomal protein L10	56					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTGTCAGATGAATATGAGCA	0.507																																																0													112	110	111					X																	153627911		2203	4300	6503	SO:0001583	missense	6134			AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"L ribosomal proteins"	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.166G>A	chrX.hg19:g.153627911G>A	ENSP00000358832:p.Glu56Lys		A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	hg19	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	G	35	5.435565	0.96150	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000458500;ENST00000406022;ENST00000451365	T;T;T;T	0.79940	-0.98;-0.98;-0.98;-1.32	4.77	4.77	0.60923	Ribosomal protein L10e/L16 (2);	0.150767	0.42420	U	0.000704	D	0.92616	0.7654	H	0.96720	3.87	0.80722	D	1	P;D	0.65815	0.912;0.995	P;D	0.69654	0.876;0.965	D	0.94917	0.8070	10	0.87932	D	0	-16.8236	14.3504	0.66697	0.0:0.0:1.0:0.0	.	56;56	A6QRI9;P27635	.;RL10_HUMAN	K	56;56;56;56;56;5;39	ENSP00000358832:E56K;ENSP00000413436:E56K;ENSP00000341730:E56K;ENSP00000385621:E5K	ENSP00000341730:E56K	E	+	1	0	RPL10	153281105	1.000000	0.71417	0.996000	0.52242	0.891000	0.51852	8.919000	0.92770	1.963000	0.57068	0.600000	0.82982	GAA		0.507	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		A	153627911	G	A	153627911	3	1	472	1	0	0	0	0	1	0	0	0	13560	1291	45	2	176	2	RPL10	23	153627911	Missense_Mutation	SNP	G	TCGA-BQ-7045-01A-31D-1961-08		153627911	1642649	69	25694											
ADAR	103	hgsc.bcm.edu	37	1	154562826	154562826	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr1:154562826T>C	ENST00000368474.4	-	7	2529	c.2330A>G	c.(2329-2331)aAg>aGg	p.K777R	ADAR_ENST00000292205.5_Missense_Mutation_p.K820R|ADAR_ENST00000368471.3_Missense_Mutation_p.K482R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	777	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GCCTTGCTTCTTGCTGTGTGC	0.542																																																0													99	92	94					1																	154562826		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2330A>G	chr1.hg19:g.154562826T>C	ENSP00000357459:p.Lys777Arg		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	hg19	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	34	5.404549	0.96051	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.94	5.94	0.96194	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93038	0.7784	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.997;0.999	D	0.94043	0.7311	10	0.87932	D	0	-29.5181	16.3951	0.83601	0.0:0.0:0.0:1.0	.	758;777;777	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	R	820;777;482;772	ENSP00000292205:K820R;ENSP00000357459:K777R;ENSP00000357456:K482R;ENSP00000431794:K772R	ENSP00000292205:K820R	K	-	2	0	ADAR	152829450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.424000	0.80242	2.272000	0.75746	0.460000	0.39030	AAG		0.542	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		C	154562826	T	C	154562826	3	2	473	1	0	0	0	0	1	0	0	0	281	1609	56	3	1386	3	ADAR	1	154562826	Missense_Mutation	SNP	T	TCGA-BQ-7046-01A-11D-1961-08		154562826	94687795	1	25695											
CACNA1S	779	hgsc.bcm.edu	37	1	201034981	201034981	+	Silent	SNP	G	G	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr1:201034981G>T	ENST00000362061.3	-	22	3064	c.2838C>A	c.(2836-2838)ggC>ggA	p.G946G	CACNA1S_ENST00000367338.3_Silent_p.G946G	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	946					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGAGCTGGACGCCGATGCAGG	0.622																																																0													85	70	75					1																	201034981		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2838C>A	chr1.hg19:g.201034981G>T			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	hg19	CCDS1407.1																																																																																				0.622	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		T	201034981	G	T	201034981	2	4	473	1	0	0	0	0	0	0	0	1	2549	1074	38	4		4	CACNA1S	1	201034981	Silent	SNP	G	TCGA-BQ-7046-01A-11D-1961-08	46472155	201034981	48215640	2	25696											
PARP9	83666	hgsc.bcm.edu	37	3	122247353	122247353	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr3:122247353A>C	ENST00000360356.2	-	11	2650	c.2423T>G	c.(2422-2424)tTt>tGt	p.F808C	PARP9_ENST00000471785.1_Missense_Mutation_p.F773C|PARP9_ENST00000492382.1_Missense_Mutation_p.F353C|PARP9_ENST00000477522.2_Missense_Mutation_p.F773C	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	808	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CATGCCACTAAAAATAACAAA	0.453																																																0													118	108	111					3																	122247353		2203	4300	6503	SO:0001583	missense	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2423T>G	chr3.hg19:g.122247353A>C	ENSP00000353512:p.Phe808Cys		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	hg19	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.879929	0.51801	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457	T;T;T;T	0.31769	1.8;1.48;1.69;1.69	4.7	4.7	0.59300	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.52532	D	0.000063	T	0.48295	0.1492	M	0.80746	2.51	0.80722	D	1	D;D;D	0.64830	0.99;0.994;0.994	P;P;P	0.57468	0.796;0.766;0.821	T	0.51810	-0.8658	10	0.54805	T	0.06	.	8.7045	0.34345	0.8079:0.1921:0.0:0.0	.	808;353;773	Q8IXQ6;G5E9U8;Q8IXQ6-2	PARP9_HUMAN;.;.	C	808;353;773;773;731	ENSP00000353512:F808C;ENSP00000417664:F353C;ENSP00000419506:F773C;ENSP00000419001:F773C	ENSP00000353512:F808C	F	-	2	0	PARP9	123730043	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.138000	0.50570	2.108000	0.64289	0.533000	0.62120	TTT		0.453	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		C	122247353	A	C	122247353	3	2	473	1	0	0	0	0	1	0	0	0	11468	14	1	5	145	5	PARP9	3	122247353	Missense_Mutation	SNP	A	TCGA-BQ-7046-01A-11D-1961-08		122247353	75775077	3	25697											
HPS3	84343	hgsc.bcm.edu	37	3	148872995	148872995	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr3:148872995A>G	ENST00000296051.2	+	8	1642	c.1502A>G	c.(1501-1503)aAa>aGa	p.K501R	HPS3_ENST00000460120.1_Missense_Mutation_p.K336R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	501					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAGCTGTACAAAGAGATGGTA	0.348									Hermansky-Pudlak syndrome																																							0													136	141	140					3																	148872995		2203	4300	6503	SO:0001583	missense	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1502A>G	chr3.hg19:g.148872995A>G	ENSP00000296051:p.Lys501Arg		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	hg19	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	1.459	-0.562938	0.03939	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.64260	-0.09;-0.09	4.89	3.74	0.42951	.	0.205149	0.44902	N	0.000404	T	0.49474	0.1559	L	0.43923	1.385	0.25950	N	0.982762	B;B	0.22746	0.074;0.027	B;B	0.22386	0.039;0.013	T	0.35992	-0.9766	10	0.28530	T	0.3	-8.4607	7.6211	0.28185	0.8276:0.0:0.1724:0.0	.	336;501	G5E9V4;Q969F9	.;HPS3_HUMAN	R	501;336	ENSP00000296051:K501R;ENSP00000418230:K336R	ENSP00000296051:K501R	K	+	2	0	HPS3	150355685	1.000000	0.71417	0.999000	0.59377	0.018000	0.09664	2.513000	0.45494	1.000000	0.39049	-0.250000	0.11733	AAA		0.348	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		G	148872995	A	G	148872995	3	3	473	1	0	0	0	0	1	0	0	0	7342	14	1	3	1532	3	HPS3	3	148872995	Missense_Mutation	SNP	A	TCGA-BQ-7046-01A-11D-1961-08	26625642	148872995	49149435	4	25698											
C4orf37	285555	hgsc.bcm.edu	37	4	98633942	98633942	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr4:98633942A>T	ENST00000295268.3	-	10	1317	c.1228T>A	c.(1228-1230)Tta>Ata	p.L410I	STPG2_ENST00000506482.1_5'UTR	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	410																	GATTTCCTTAAAACAGGATTG	0.348																																																0													98	101	100					4																	98633942		2203	4300	6503	SO:0001583	missense	285555			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1228T>A	chr4.hg19:g.98633942A>T	ENSP00000295268:p.Leu410Ile			Missense_Mutation	SNP	ENST00000295268.3	hg19	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.397643	0.25205	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.49139	0.79;2.73	4.85	2.3	0.28687	.	0.854661	0.09752	N	0.760480	T	0.32704	0.0838	L	0.27053	0.805	0.09310	N	0.999998	P	0.38300	0.626	B	0.40782	0.34	T	0.14868	-1.0457	10	0.23302	T	0.38	-8.0438	4.5761	0.12234	0.4933:0.3146:0.192:0.0	.	410	Q8N412	CD037_HUMAN	I	124;410	ENSP00000428346:L124I;ENSP00000295268:L410I	ENSP00000295268:L410I	L	-	1	2	C4orf37	98852965	0.779000	0.28652	0.948000	0.38648	0.774000	0.43823	0.556000	0.23438	1.930000	0.55929	0.528000	0.53228	TTA		0.348	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		T	98633942	A	T	98633942	3	4	473	1	0	0	0	0	1	0	0	0	2269	11	1	5	159	5	C4orf37	4	98633942	Missense_Mutation	SNP	A	TCGA-BQ-7046-01A-11D-1961-08		98633942	92520334	5	25699											
RAB24	53917	hgsc.bcm.edu	37	5	176729807	176729807	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr5:176729807C>G	ENST00000303251.6	-	3	630	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000393611.2_Missense_Mutation_p.E71Q|RAB24_ENST00000303270.6_Missense_Mutation_p.E42Q|PRELID1_ENST00000503216.1_5'Flank	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	71					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCATGGCCTCATAGCGCTCA	0.537																																																0													98	93	95					5																	176729807		2203	4300	6503	SO:0001583	missense	53917			AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"RAB, member RAS oncogene"	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.211G>C	chr5.hg19:g.176729807C>G	ENSP00000304376:p.Glu71Gln		Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	hg19	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064810	0.76187	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.76968	-1.06;-1.06;-1.06	5.49	5.49	0.81192	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.60637	0.2284	N	0.02765	-0.5	0.80722	D	1	P;P	0.39181	0.536;0.663	B;B	0.37833	0.223;0.259	T	0.70019	-0.4987	10	0.59425	D	0.04	1.7456	18.9659	0.92695	0.0:1.0:0.0:0.0	.	71;42	Q969Q5;F8W8H5	RAB24_HUMAN;.	Q	71;71;42	ENSP00000377235:E71Q;ENSP00000304376:E71Q;ENSP00000302085:E42Q	ENSP00000304376:E71Q	E	-	1	0	RAB24	176662413	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.185000	0.77714	2.576000	0.86940	0.555000	0.69702	GAG		0.537	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781		G	176729807	C	G	176729807	3	3	473	1	0	0	0	0	1	0	0	0	12917	835	29	4	424	4	RAB24	5	176729807	Missense_Mutation	SNP	C	TCGA-BQ-7046-01A-11D-1961-08		176729807	4185453	6	25700											
KIAA0319	9856	hgsc.bcm.edu	37	6	24578370	24578370	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr6:24578370C>G	ENST00000378214.3	-	9	1997	c.1473G>C	c.(1471-1473)ttG>ttC	p.L491F	KIAA0319_ENST00000543707.1_Missense_Mutation_p.L491F|KIAA0319_ENST00000537886.1_Missense_Mutation_p.L491F|KIAA0319_ENST00000430948.2_Missense_Mutation_p.L446F|KIAA0319_ENST00000535378.1_Missense_Mutation_p.L482F	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	491	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAAGGTTAGACAAGCGTAAGA	0.408																																																0													144	138	140					6																	24578370		2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1473G>C	chr6.hg19:g.24578370C>G	ENSP00000367459:p.Leu491Phe		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	hg19	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558223	0.45590	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	4.12	3.14	0.36123	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (2);	0.101129	0.41396	D	0.000885	T	0.20981	0.0505	M	0.64080	1.96	0.43628	D	0.99601	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.00518	-1.1693	10	0.72032	D	0.01	-0.9176	8.9471	0.35764	0.0:0.8102:0.0:0.1898	.	491;482;491	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	F	491;482;446;491;491	ENSP00000439700:L491F;ENSP00000442403:L482F;ENSP00000401086:L446F;ENSP00000367459:L491F;ENSP00000437656:L491F	ENSP00000367459:L491F	L	-	3	2	KIAA0319	24686349	1.000000	0.71417	0.460000	0.27093	0.015000	0.08874	0.975000	0.29449	2.105000	0.64084	0.555000	0.69702	TTG		0.408	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		G	24578370	C	G	24578370	3	3	473	1	0	0	0	0	1	0	0	0	8170	477	17	4	1797	4	KIAA0319	6	24578370	Missense_Mutation	SNP	C	TCGA-BQ-7046-01A-11D-1961-08		24578370	146536697	7	25701											
FGL2	10875	hgsc.bcm.edu	37	7	76828725	76828726	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr7:76828725_76828726insT	ENST00000248598.5	-	1	417_418	c.385_386insA	c.(385-387)agafs	p.R129fs	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	129						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTCTCTAACTCTGTTATCACCA	0.495																																																0																																										SO:0001589	frameshift_variant	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.386dupA	chr7.hg19:g.76828726_76828726dupT	ENSP00000248598:p.Arg129fs			Frame_Shift_Ins	INS	ENST00000248598.5	hg19	CCDS5591.1																																																																																				0.495	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		T	76828726	-	T	76828725	7	5	473	1	0	1	1	0	0	0	0	0	5875	913	32	0	941	0	FGL2	7	76828725	Frame_Shift_Ins	INS	-	TCGA-BQ-7046-01A-11D-1961-08		76828725	82309938	8	25702											
MYST3	7994	hgsc.bcm.edu	37	8	41836161	41836161	+	Splice_Site	DEL	C	C	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr8:41836161delC	ENST00000396930.3	-	7	1585	c.1042delG	c.(1042-1044)gta>ta	p.V348fs	KAT6A_ENST00000265713.2_Splice_Site_p.V348fs|KAT6A_ENST00000406337.1_Splice_Site_p.V348fs|KAT6A_ENST00000485568.1_Splice_Site_p.V348fs	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	348	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ACAACTTACACCGTGTTTTGT	0.383																																																0													338	340	340					8																	41836161		2203	4300	6503	SO:0001630	splice_region_variant	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1043+1G>-	chr8.hg19:g.41836161delC			Q76L81	Frame_Shift_Del	DEL	ENST00000396930.3	hg19	CCDS6124.1																																																																																				0.383	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	Frame_Shift_Del	-	41836161	C	-	41836161	8	5	473	1	0	1	0	1	0	0	1	0	10106	521	18	0	5020	0	MYST3	8	41836161	Splice_Site	DEL	C	TCGA-BQ-7046-01A-11D-1961-08		41836161	104527861	9	25703											
CNTLN	54875	hgsc.bcm.edu	37	9	17462949	17462949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr9:17462949delT	ENST00000380647.3	+	20	3426	c.3342delT	c.(3340-3342)aatfs	p.N1114fs	CNTLN_ENST00000262360.5_Frame_Shift_Del_p.N1114fs|CNTLN_ENST00000425824.1_Frame_Shift_Del_p.N1114fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1114					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGTCATCAAATGTGAAGACTT	0.299																																																0													83	81	81					9																	17462949		1809	4069	5878	SO:0001589	frameshift_variant	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3342delT	chr9.hg19:g.17462949delT	ENSP00000370021:p.Asn1114fs		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Del	DEL	ENST00000380647.3	hg19	CCDS43789.1																																																																																				0.299	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		-	17462949	T	-	17462949	7	5	473	1	0	1	0	1	0	0	0	0	3641	1461	51	0	3450	0	CNTLN	9	17462949	Frame_Shift_Del	DEL	T	TCGA-BQ-7046-01A-11D-1961-08		17462949	123750482	10	25704											
SVIL	6840	hgsc.bcm.edu	37	10	29811367	29811367	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr10:29811367G>C	ENST00000355867.4	-	16	4113	c.3361C>G	c.(3361-3363)Ccc>Gcc	p.P1121A	SVIL_ENST00000535393.1_Missense_Mutation_p.P19A|SVIL_ENST00000375400.3_Missense_Mutation_p.P695A|SVIL_ENST00000375398.2_Missense_Mutation_p.P1121A	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1121					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTTTTGCTGGGTGAGTCAAGA	0.468																																																0													70	70	70					10																	29811367		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3361C>G	chr10.hg19:g.29811367G>C	ENSP00000348128:p.Pro1121Ala		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	hg19	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	9.477	1.097117	0.20552	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994	T;T;T;T	0.12255	2.79;2.83;2.83;2.7	5.82	2.6	0.31112	.	0.415737	0.28482	N	0.015187	T	0.07863	0.0197	L	0.32530	0.975	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.21827	-1.0234	10	0.12430	T	0.62	-11.1568	4.4588	0.11656	0.2785:0.2093:0.5123:0.0	.	19;695;1121	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	A	695;1121;1121;19;75	ENSP00000364549:P695A;ENSP00000364547:P1121A;ENSP00000348128:P1121A;ENSP00000445472:P19A	ENSP00000348128:P1121A	P	-	1	0	SVIL	29851373	0.955000	0.32602	0.678000	0.29963	0.512000	0.34134	1.769000	0.38522	0.798000	0.33994	0.563000	0.77884	CCC		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			C	29811367	G	C	29811367	3	2	473	1	0	0	0	0	1	0	0	0	15426	1261	44	4	3375	4	SVIL	10	29811367	Missense_Mutation	SNP	G	TCGA-BQ-7046-01A-11D-1961-08		29811367	105723380	11	25705											
PARD3	56288	hgsc.bcm.edu	37	10	34648076	34648076	+	Splice_Site	SNP	T	T	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr10:34648076T>C	ENST00000374789.3	-	14	2391	c.2066A>G	c.(2065-2067)gAg>gGg	p.E689G	PARD3_ENST00000374794.3_Splice_Site_p.E632G|PARD3_ENST00000374773.1_Splice_Site_p.E689G|PARD3_ENST00000374768.1_Splice_Site_p.E127G|PARD3_ENST00000544292.1_Splice_Site_p.E406G|PARD3_ENST00000374776.1_Splice_Site_p.E676G|PARD3_ENST00000545693.1_Splice_Site_p.E676G|PARD3_ENST00000340077.5_Splice_Site_p.E689G|PARD3_ENST00000374790.3_Splice_Site_p.E632G|PARD3_ENST00000374788.3_Splice_Site_p.E689G|PARD3_ENST00000346874.4_Splice_Site_p.E689G|PARD3_ENST00000350537.4_Splice_Site_p.E676G|PARD3_ENST00000545260.1_Splice_Site_p.E632G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	689					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATTTCTTACCTCATTGCACTT	0.378																																																0													167	156	160					10																	34648076		2203	4300	6503	SO:0001630	splice_region_variant	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2067+1A>G	chr10.hg19:g.34648076T>C			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	hg19	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328750	0.41197	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	T;T;T;T;T;T;T;T;T;T;T;T;T	0.20332	2.43;2.43;2.49;2.49;2.52;2.45;2.42;2.43;2.1;2.08;2.16;2.12;2.25	5.56	5.56	0.83823	PDZ/DHR/GLGF (1);	0.414096	0.28706	N	0.014403	T	0.30916	0.0780	L	0.50333	1.59	0.80722	D	1	P;P;B;P;B;P;P;B;B;P;P;B;B;P;B	0.46512	0.719;0.879;0.391;0.719;0.391;0.82;0.719;0.236;0.023;0.597;0.825;0.069;0.076;0.506;0.085	B;B;B;B;B;P;B;B;B;B;P;B;B;P;B	0.49502	0.377;0.409;0.304;0.377;0.304;0.613;0.377;0.076;0.013;0.209;0.533;0.113;0.078;0.502;0.113	T	0.01508	-1.1337	10	0.45353	T	0.12	.	15.7055	0.77577	0.0:0.0:0.0:1.0	.	632;632;676;676;676;689;689;689;632;676;689;689;676;689;406	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	G	676;632;689;689;689;632;676;632;676;689;689;406;127	ENSP00000443147:E676G;ENSP00000440857:E632G;ENSP00000363921:E689G;ENSP00000363920:E689G;ENSP00000340591:E689G;ENSP00000363926:E632G;ENSP00000311986:E676G;ENSP00000363922:E632G;ENSP00000363908:E676G;ENSP00000341844:E689G;ENSP00000363905:E689G;ENSP00000444429:E406G;ENSP00000363900:E127G	ENSP00000341844:E689G	E	-	2	0	PARD3	34688082	1.000000	0.71417	0.990000	0.47175	0.190000	0.23558	6.186000	0.72026	2.114000	0.64651	0.533000	0.62120	GAG		0.378	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	Missense_Mutation	C	34648076	T	C	34648076	5	2	473	1	0	0	0	0	0	0	1	0	11445	1565	54	3	2087	3	PARD3	10	34648076	Splice_Site	SNP	T	TCGA-BQ-7046-01A-11D-1961-08	4836709	34648076	100886671	12	25706											
TMEM26	219623	hgsc.bcm.edu	37	10	63212836	63212836	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr10:63212836C>T	ENST00000399298.3	-	1	372	c.4G>A	c.(4-6)Gag>Aag	p.E2K	TMEM26_ENST00000399293.1_Missense_Mutation_p.E2K|RP11-809M12.1_ENST00000389640.4_RNA	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	2						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					ACCAGTCCCTCCATGCTGGCC	0.667																																																0													45	54	51					10																	63212836		2126	4227	6353	SO:0001583	missense	219623			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.4G>A	chr10.hg19:g.63212836C>T	ENSP00000382237:p.Glu2Lys		Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	hg19	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755604	0.49362	.	.	ENSG00000196932	ENST00000399298;ENST00000399293	.	.	.	5.01	4.1	0.47936	.	0.902018	0.09509	N	0.792586	T	0.46132	0.1377	L	0.50333	1.59	0.34559	D	0.71215	P	0.43392	0.805	B	0.34722	0.188	T	0.53373	-0.8448	9	0.24483	T	0.36	-18.3363	14.8814	0.70537	0.1446:0.8554:0.0:0.0	.	2	Q6ZUK4	TMM26_HUMAN	K	2	.	ENSP00000382232:E2K	E	-	1	0	TMEM26	62882842	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	4.777000	0.62361	1.315000	0.45114	-0.182000	0.12963	GAG		0.667	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		T	63212836	C	T	63212836	3	4	473	1	0	0	0	0	1	0	0	0	16156	864	30	2	1126	2	TMEM26	10	63212836	Missense_Mutation	SNP	C	TCGA-BQ-7046-01A-11D-1961-08	28564760	63212836	72321911	13	25707											
DNAJB12	54788	hgsc.bcm.edu	37	10	74100871	74100871	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr10:74100871T>A	ENST00000444643.2	-	4	847	c.515A>T	c.(514-516)cAg>cTg	p.Q172L	DNAJB12_ENST00000394903.2_Missense_Mutation_p.Q206L|DNAJB12_ENST00000338820.3_Missense_Mutation_p.Q206L|DNAJB12_ENST00000461919.1_5'UTR			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	172	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						ATCGCCGAACTGGTCATACTG	0.602																																																0													75	67	69					10																	74100871		2203	4300	6503	SO:0001583	missense	54788			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"Heat shock proteins / DNAJ (HSP40)"	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.515A>T	chr10.hg19:g.74100871T>A	ENSP00000403313:p.Gln172Leu		B7Z7I3|Q9H6H0	Missense_Mutation	SNP	ENST00000444643.2	hg19		.	.	.	.	.	.	.	.	.	.	T	8.916	0.959878	0.18507	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.73258	-0.73;-0.73;-0.73	5.48	5.48	0.80851	Heat shock protein DnaJ, N-terminal (3);	0.122950	0.64402	D	0.000020	T	0.59528	0.2200	N	0.17474	0.49	0.58432	D	0.999999	D;P	0.54207	0.965;0.879	P;B	0.49887	0.625;0.227	T	0.59721	-0.7401	10	0.02654	T	1	-6.3488	15.622	0.76813	0.0:0.0:0.0:1.0	.	172;172	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	L	206;206;172	ENSP00000345575:Q206L;ENSP00000378363:Q206L;ENSP00000403313:Q172L	ENSP00000345575:Q206L	Q	-	2	0	DNAJB12	73770877	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	5.015000	0.64035	2.086000	0.62901	0.529000	0.55759	CAG		0.602	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2			A	74100871	T	A	74100871	3	1	473	1	0	0	0	0	1	0	0	0	4619	1580	55	5	632	5	DNAJB12	10	74100871	Missense_Mutation	SNP	T	TCGA-BQ-7046-01A-11D-1961-08	10888035	74100871	61433876	14	25708											
EML3	256364	hgsc.bcm.edu	37	11	62376458	62376458	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr11:62376458C>A	ENST00000394773.2	-	7	1212	c.905G>T	c.(904-906)cGg>cTg	p.R302L	EML3_ENST00000278845.4_Missense_Mutation_p.R303L|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Missense_Mutation_p.R274L|EML3_ENST00000531557.1_Missense_Mutation_p.R85L|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.R302L|ROM1_ENST00000534093.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	302						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTGTGCCCCCGGTAATGTCT	0.637																																																0													134	149	144					11																	62376458		2202	4299	6501	SO:0001583	missense	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.905G>T	chr11.hg19:g.62376458C>A	ENSP00000378254:p.Arg302Leu		Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	hg19	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	3.507	-0.100684	0.06967	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.69	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.290099	0.31199	N	0.008070	T	0.27241	0.0668	N	0.02403	-0.565	0.39947	D	0.974484	B;B;B;B;B	0.11235	0.003;0.001;0.0;0.004;0.002	B;B;B;B;B	0.12156	0.006;0.007;0.0;0.006;0.003	T	0.28776	-1.0033	10	0.02654	T	1	-16.8234	12.6609	0.56813	0.2364:0.7636:0.0:0.0	.	302;302;85;303;274	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	L	302;303;85;274;302	ENSP00000378254:R302L;ENSP00000278845:R303L;ENSP00000433417:R85L;ENSP00000435064:R274L;ENSP00000434513:R302L	ENSP00000278845:R303L	R	-	2	0	EML3	62133034	0.991000	0.36638	1.000000	0.80357	0.981000	0.71138	1.076000	0.30729	2.676000	0.91093	0.655000	0.94253	CGG		0.637	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		A	62376458	C	A	62376458	3	1	473	1	0	0	0	0	1	0	0	0	5100	652	23	4	1849	4	EML3	11	62376458	Missense_Mutation	SNP	C	TCGA-BQ-7046-01A-11D-1961-08		62376458	72630058	15	25709											
NRXN2	9379	hgsc.bcm.edu	37	11	64453122	64453122	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr11:64453122C>T	ENST00000377551.1	-	5	1359	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	NRXN2_ENST00000409571.1_Missense_Mutation_p.R383H|NRXN2_ENST00000265459.6_Missense_Mutation_p.R383H|NRXN2_ENST00000377559.3_Missense_Mutation_p.R359H			Q9P2S2	NRX2A_HUMAN	neurexin 2	383	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCTACCTGGCGCAGGTTTCG	0.602																																																0													86	87	86					11																	64453122		2201	4297	6498	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1148G>A	chr11.hg19:g.64453122C>T	ENSP00000366774:p.Arg383His		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	hg19	CCDS8077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.684359|4.684359	0.88639|0.88639	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000417749|ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300	.|T;T;T;T;T	.|0.78481	.|-1.18;-1.18;-1.18;-1.18;-1.18	4.0|4.0	4.0|4.0	0.46444|0.46444	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.|0.000000	.|0.44097	.|U	.|0.000496	D|D	0.84969|0.84969	0.5590|0.5590	M|M	0.62088|0.62088	1.915|1.915	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.987;0.998	D|D	0.86396|0.86396	0.1739|0.1739	5|10	.|0.87932	.|D	.|0	.|.	11.9853|11.9853	0.53145|0.53145	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|359;383;136	.|Q9P2S2-2;Q9P2S2;E7EV67	.|.;NRX2A_HUMAN;.	T|H	144|383;359;383;359;383;154	.|ENSP00000366774:R383H;ENSP00000366782:R359H;ENSP00000265459:R383H;ENSP00000386416:R383H;ENSP00000388971:R154H	.|ENSP00000265459:R383H	A|R	-|-	1|2	0|0	NRXN2|NRXN2	64209698|64209698	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.814000|7.814000	0.86154|0.86154	1.951000|1.951000	0.56629|0.56629	0.467000|0.467000	0.42956|0.42956	GCC|CGC		0.602	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		T	64453122	C	T	64453122	3	4	473	1	0	0	0	0	1	0	0	0	10668	768	27	1	4331	1	NRXN2	11	64453122	Missense_Mutation	SNP	C	TCGA-BQ-7046-01A-11D-1961-08	2076664	64453122	70553394	16	25710											
ROBO4	54538	hgsc.bcm.edu	37	11	124765531	124765531	+	Silent	SNP	G	G	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr11:124765531G>A	ENST00000306534.3	-	6	1343	c.858C>T	c.(856-858)acC>acT	p.T286T	ROBO4_ENST00000533054.1_Silent_p.T141T|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	286	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGCAGTCTGGGTCCTGAACA	0.672																																																0													36	44	41					11																	124765531		2193	4283	6476	SO:0001819	synonymous_variant	54538			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.858C>T	chr11.hg19:g.124765531G>A			A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	hg19	CCDS8455.1																																																																																				0.672	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		A	124765531	G	A	124765531	2	1	473	1	0	0	0	0	0	0	0	1	13522	1219	43	2		2	ROBO4	11	124765531	Silent	SNP	G	TCGA-BQ-7046-01A-11D-1961-08	60312409	124765531	10240985	17	25711											
CAND1	55832	hgsc.bcm.edu	37	12	67691215	67691215	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr12:67691215C>A	ENST00000545606.1	+	5	957	c.520C>A	c.(520-522)Cct>Act	p.P174T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	174					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TAATTTCCATCCTTCAATTCT	0.408																																																0													119	122	121					12																	67691215		2203	4300	6503	SO:0001583	missense	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.520C>A	chr12.hg19:g.67691215C>A	ENSP00000442318:p.Pro174Thr		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	hg19	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751582	0.49257	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.66099	-0.19	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	M	0.65498	2.005	0.80722	D	1	B	0.25521	0.128	B	0.27380	0.079	T	0.59968	-0.7354	9	.	.	.	-15.7741	19.057	0.93069	0.0:1.0:0.0:0.0	.	174	Q86VP6	CAND1_HUMAN	T	174;174;16	ENSP00000442318:P174T	.	P	+	1	0	CAND1	65977482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.879000	0.69690	2.508000	0.84585	0.655000	0.94253	CCT		0.408	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		A	67691215	C	A	67691215	3	1	473	1	0	0	0	0	1	0	0	0	2617	855	30	4	538	4	CAND1	12	67691215	Missense_Mutation	SNP	C	TCGA-BQ-7046-01A-11D-1961-08		67691215	66160680	18	25712											
NR2F2	7026	hgsc.bcm.edu	37	15	96875635	96875635	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr15:96875635A>G	ENST00000394166.3	+	1	1690	c.301A>G	c.(301-303)Agc>Ggc	p.S101G	NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000394171.2_5'Flank|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	101					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGGCTGCAAGAGCTTCTTCAA	0.612																																																0													66	53	57					15																	96875635		2197	4298	6495	SO:0001583	missense	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.301A>G	chr15.hg19:g.96875635A>G	ENSP00000377721:p.Ser101Gly		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	hg19	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.468861	0.63625	.	.	ENSG00000185551	ENST00000394166	D	0.96745	-4.11	4.61	4.61	0.57282	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.187668	0.42821	N	0.000656	D	0.91784	0.7401	N	0.01235	-0.94	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88109	0.2824	10	0.02654	T	1	.	12.8472	0.57837	1.0:0.0:0.0:0.0	.	101	P24468	COT2_HUMAN	G	101	ENSP00000377721:S101G	ENSP00000377721:S101G	S	+	1	0	NR2F2	94676639	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.257000	0.72480	1.705000	0.51264	0.379000	0.24179	AGC		0.612	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			G	96875635	A	G	96875635	3	3	473	1	0	0	0	0	1	0	0	0	10630	304	11	3	350	3	NR2F2	15	96875635	Missense_Mutation	SNP	A	TCGA-BQ-7046-01A-11D-1961-08		96875635	5655757	19	25713											
RSPRY1	89970	hgsc.bcm.edu	37	16	57261323	57261323	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr16:57261323delA	ENST00000537866.1	+	11	2104	c.1231delA	c.(1231-1233)aatfs	p.N411fs	RSPRY1_ENST00000394420.4_Frame_Shift_Del_p.N411fs|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	411	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GATTTGGTACAATGCCAGAAG	0.453																																																0													122	104	110					16																	57261323		2198	4300	6498	SO:0001589	frameshift_variant	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1231delA	chr16.hg19:g.57261323delA	ENSP00000443176:p.Asn411fs		Q6UX21|Q8ND53	Frame_Shift_Del	DEL	ENST00000537866.1	hg19	CCDS10775.1																																																																																				0.453	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		-	57261323	A	-	57261323	7	5	473	1	0	1	0	1	0	0	0	0	13719	130	5	0	1269	0	RSPRY1	16	57261323	Frame_Shift_Del	DEL	A	TCGA-BQ-7046-01A-11D-1961-08		57261323	33093430	20	25714											
MYBBP1A	10514	hgsc.bcm.edu	37	17	4451584	4451584	+	Silent	SNP	C	C	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr17:4451584C>T	ENST00000254718.4	-	12	1884	c.1578G>A	c.(1576-1578)acG>acA	p.T526T	MYBBP1A_ENST00000381556.2_Silent_p.T526T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	526	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCTTGAACTGCGTGCTGAGGG	0.637																																																0													64	64	64					17																	4451584		2203	4300	6503	SO:0001819	synonymous_variant	10514			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1578G>A	chr17.hg19:g.4451584C>T			Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	hg19	CCDS11046.1																																																																																				0.637	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		T	4451584	C	T	4451584	2	4	473	1	0	0	0	0	0	0	0	1	10010	755	27	1		1	MYBBP1A	17	4451584	Silent	SNP	C	TCGA-BQ-7046-01A-11D-1961-08		4451584	76743626	21	25715											
GPRC5C	55890	hgsc.bcm.edu	37	17	72436053	72436053	+	Silent	SNP	T	T	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr17:72436053T>A	ENST00000481232.1	+	2	784	c.273T>A	c.(271-273)tcT>tcA	p.S91S	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Silent_p.S58S|GPRC5C_ENST00000392627.1_Silent_p.S91S			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	46					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GTGACCGCTCTGGGGCGTGGG	0.662																																																0													62	59	60					17																	72436053		2203	4299	6502	SO:0001819	synonymous_variant	55890			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.273T>A	chr17.hg19:g.72436053T>A			B5BUN4|Q2NL85|Q9NZG5	Silent	SNP	ENST00000481232.1	hg19																																																																																					0.662	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000145095.2			A	72436053	T	A	72436053	2	1	473	1	0	0	0	0	0	0	0	1	6728	1567	55	5		5	GPRC5C	17	72436053	Silent	SNP	T	TCGA-BQ-7046-01A-11D-1961-08	67984469	72436053	8759157	22	25716											
C20orf3	57136	hgsc.bcm.edu	37	20	24944513	24944513	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr20:24944513C>T	ENST00000217456.2	-	9	1477	c.1187G>A	c.(1186-1188)gGg>gAg	p.G396E	APMAP_ENST00000447138.1_3'UTR	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	396					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										GTACAGGTGCCCATCGTGTTC	0.627																																																0													103	94	97					20																	24944513		2203	4300	6503	SO:0001583	missense	57136			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.1187G>A	chr20.hg19:g.24944513C>T	ENSP00000217456:p.Gly396Glu		A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	hg19	CCDS13166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.06|17.06	3.291373|3.291373	0.59976|0.59976	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000217456|ENST00000451442	T|T	0.36520|0.35605	1.25|1.3	4.86|4.86	4.86|4.86	0.63082|0.63082	Six-bladed beta-propeller, TolB-like (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58708|0.58708	0.2141|0.2141	M|M	0.82132|0.82132	2.575|2.575	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.973|.	D;P|.	0.68192|.	0.956;0.685|.	T|T	0.64643|0.64643	-0.6359|-0.6359	10|8	0.44086|0.62326	T|D	0.13|0.03	-18.3321|-18.3321	15.4972|15.4972	0.75662|0.75662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	388;396|.	A2A2F9;Q9HDC9|.	.;APMAP_HUMAN|.	E|S	396|389	ENSP00000217456:G396E|ENSP00000395874:G389S	ENSP00000217456:G396E|ENSP00000395874:G389S	G|G	-|-	2|1	0|0	C20orf3|C20orf3	24892513|24892513	1.000000|1.000000	0.71417|0.71417	0.502000|0.502000	0.27614|0.27614	0.164000|0.164000	0.22412|0.22412	7.726000|7.726000	0.84824|0.84824	2.216000|2.216000	0.71823|0.71823	0.561000|0.561000	0.74099|0.74099	GGG|GGC		0.627	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		T	24944513	C	T	24944513	3	4	473	1	0	0	0	0	1	0	0	0	2111	623	22	2	67	2	C20orf3	20	24944513	Missense_Mutation	SNP	C	TCGA-BQ-7046-01A-11D-1961-08		24944513	38081007	23	25717											
BACH1	571	hgsc.bcm.edu	37	21	30698866	30698866	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr21:30698866delA	ENST00000399921.1	+	3	964	c.721delA	c.(721-723)actfs	p.T241fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.T241fs	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CAGAGTCCGTACTGGGGAATC	0.453																																																0													57	59	58					21																	30698866		2203	4300	6503	SO:0001589	frameshift_variant	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.721delA	chr21.hg19:g.30698866delA	ENSP00000382805:p.Thr241fs		Q3MJE2|Q8NCI5	Frame_Shift_Del	DEL	ENST00000399921.1	hg19	CCDS13585.1																																																																																				0.453	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		-	30698866	A	-	30698866	7	5	473	1	0	1	0	1	0	0	0	0	1283	391	14	0	727	0	BACH1	21	30698866	Frame_Shift_Del	DEL	A	TCGA-BQ-7046-01A-11D-1961-08		30698866	17431029	24	25718											
DSCAM	1826	hgsc.bcm.edu	37	21	41459172	41459172	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr21:41459172G>A	ENST00000400454.1	-	22	4370	c.3893C>T	c.(3892-3894)cCa>cTa	p.P1298L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1298	Ig-like C2-type 10.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCATCCATGGAGTAGTCAC	0.488																																					Melanoma(134;970 1778 1785 21664 32388)											0													152	147	149					21																	41459172		1995	4169	6164	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3893C>T	chr21.hg19:g.41459172G>A	ENSP00000383303:p.Pro1298Leu		O60468	Missense_Mutation	SNP	ENST00000400454.1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.670051	0.88348	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.25912	1.77;1.77	4.71	4.71	0.59529	Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	L	0.33339	1.005	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.35226	-0.9797	10	0.59425	D	0.04	.	18.0505	0.89347	0.0:0.0:1.0:0.0	.	1298	O60469	DSCAM_HUMAN	L	1298;1050	ENSP00000383303:P1298L;ENSP00000385342:P1050L	ENSP00000383303:P1298L	P	-	2	0	DSCAM	40381042	1.000000	0.71417	0.262000	0.24481	0.988000	0.76386	9.633000	0.98432	2.316000	0.78162	0.563000	0.77884	CCA		0.488	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41459172	G	A	41459172	3	1	473	1	0	0	0	0	1	0	0	0	4770	1348	47	2	2193	2	DSCAM	21	41459172	Missense_Mutation	SNP	G	TCGA-BQ-7046-01A-11D-1961-08	10760306	41459172	6670723	25	25719											
SNAP29	9342	hgsc.bcm.edu	37	22	21237785	21237785	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7046-01A-11D-1961-08	TCGA-BQ-7046-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1fa8122c-c3e4-4e48-a47a-82feb79f1dc0	ea85b7f0-e214-4d27-80c1-c254338b6b0c	g.chr22:21237785G>C	ENST00000215730.7	+	4	675	c.547G>C	c.(547-549)Gcc>Ccc	p.A183P		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	183					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GGCTGGTTCTGCCATGAGTAC	0.498																																																0													218	198	205					22																	21237785		2203	4300	6503	SO:0001583	missense	9342			AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"soluble 29 kDa NSF attachment protein"	604202	"synaptosomal-associated protein, 29kD"			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.547G>C	chr22.hg19:g.21237785G>C	ENSP00000215730:p.Ala183Pro			Missense_Mutation	SNP	ENST00000215730.7	hg19	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944634	0.34283	.	.	ENSG00000099940	ENST00000215730;ENST00000439214	.	.	.	4.17	-2.31	0.06765	SNAP-25 (1);	0.598056	0.18243	N	0.147169	T	0.17408	0.0418	N	0.22421	0.69	0.09310	N	1	P	0.41524	0.753	P	0.44921	0.464	T	0.12319	-1.0552	9	0.33141	T	0.24	-0.0293	2.763	0.05312	0.3197:0.0:0.3417:0.3386	.	183	O95721	SNP29_HUMAN	P	183;90	.	ENSP00000215730:A183P	A	+	1	0	SNAP29	19567785	0.014000	0.17966	0.001000	0.08648	0.009000	0.06853	0.143000	0.16115	-0.176000	0.10707	-0.218000	0.12543	GCC		0.498	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		C	21237785	G	C	21237785	3	2	473	1	0	0	0	0	1	0	0	0	14837	1319	46	4	561	4	SNAP29	22	21237785	Missense_Mutation	SNP	G	TCGA-BQ-7046-01A-11D-1961-08		21237785	30066781	26	25720											
KIAA0090	23065	hgsc.bcm.edu	37	1	19566346	19566346	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:19566346T>C	ENST00000477853.1	-	8	962	c.920A>G	c.(919-921)tAt>tGt	p.Y307C	EMC1_ENST00000375199.3_Missense_Mutation_p.Y307C|EMC1_ENST00000375208.3_Missense_Mutation_p.Y285C|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	307						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CAGCGTTCCATAATGGTACTG	0.547																																																0													81	83	82					1																	19566346		2203	4300	6503	SO:0001583	missense	23065				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.920A>G	chr1.hg19:g.19566346T>C	ENSP00000420608:p.Tyr307Cys		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	hg19	CCDS190.1	.	.	.	.	.	.	.	.	.	.	T	6.476	0.456042	0.12283	.	.	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.21932	1.98;1.98;1.98	5.63	3.3	0.37823	.	0.510435	0.24343	N	0.039353	T	0.10252	0.0251	N	0.08118	0	0.09310	N	0.999998	B;P;P;B	0.35456	0.218;0.502;0.502;0.369	B;B;B;B	0.36418	0.161;0.161;0.224;0.112	T	0.17653	-1.0362	10	0.36615	T	0.2	-5.9075	8.4851	0.33067	0.1216:0.0:0.1381:0.7404	.	285;307;307;307	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	C	307;307;285	ENSP00000420608:Y307C;ENSP00000364345:Y307C;ENSP00000364354:Y285C	ENSP00000364345:Y307C	Y	-	2	0	KIAA0090	19438933	0.998000	0.40836	0.449000	0.26957	0.158000	0.22134	3.412000	0.52679	2.137000	0.66172	0.533000	0.62120	TAT		0.547	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		C	19566346	T	C	19566346	3	2	474	1	0	0	0	0	1	0	0	0	8155	1406	49	3	2125	3	KIAA0090	1	19566346	Missense_Mutation	SNP	T	TCGA-BQ-7048-01A-11D-1961-08		19566346	229684275	1	25721											
GFI1	2672	hgsc.bcm.edu	37	1	92948601	92948601	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:92948601T>C	ENST00000370332.1	-	3	436	c.118A>G	c.(118-120)Agc>Ggc	p.S40G	GFI1_ENST00000294702.5_Missense_Mutation_p.S40G|GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000427103.1_Missense_Mutation_p.S40G	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	40					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TTTGAAGTGCTGTCTGCAAAG	0.667																																																0													26	32	30					1																	92948601		2200	4294	6494	SO:0001583	missense	2672			U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"Zinc fingers, C2H2-type"	4237	protein-coding gene	gene with protein product		600871	"growth factor independent 1"	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.118A>G	chr1.hg19:g.92948601T>C	ENSP00000359357:p.Ser40Gly		Q8N564	Missense_Mutation	SNP	ENST00000370332.1	hg19	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	T	8.861	0.946887	0.18356	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.09255	3.0;3.0;3.0	5.18	-2.98	0.05513	.	0.726593	0.13857	N	0.357995	T	0.01029	0.0034	N	0.12182	0.205	0.19775	N	0.999954	B	0.02656	0.0	B	0.01281	0.0	T	0.46133	-0.9213	10	0.06891	T	0.86	-6.9644	7.2257	0.26014	0.1163:0.4299:0.0:0.4538	.	40	Q99684	GFI1_HUMAN	G	40	ENSP00000359357:S40G;ENSP00000399719:S40G;ENSP00000294702:S40G	ENSP00000294702:S40G	S	-	1	0	GFI1	92721189	0.003000	0.15002	0.979000	0.43373	0.161000	0.22273	-0.880000	0.04183	-0.481000	0.06792	-0.379000	0.06801	AGC		0.667	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		C	92948601	T	C	92948601	3	2	474	1	0	0	0	0	1	0	0	0	6341	1580	55	3	1170	3	GFI1	1	92948601	Missense_Mutation	SNP	T	TCGA-BQ-7048-01A-11D-1961-08	73382255	92948601	156302020	2	25722											
MR1	3140	hgsc.bcm.edu	37	1	181019230	181019230	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:181019230G>T	ENST00000367580.5	+	3	417	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000282990.6_Missense_Mutation_p.G138W|MR1_ENST00000367579.3_Intron|MR1_ENST00000434571.2_Missense_Mutation_p.G138W	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	138	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	TGCATATGACGGGCAGGATTT	0.502																																					Colon(174;1412 1962 45296 46549 47110)											0													128	115	120					1																	181019230		2203	4300	6503	SO:0001583	missense	3140			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.412G>T	chr1.hg19:g.181019230G>T	ENSP00000356552:p.Gly138Trp		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	hg19	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460730	0.63513	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990	T;T;T	0.00468	7.22;7.22;7.22	4.27	4.27	0.50696	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.317505	0.27270	N	0.020131	T	0.03136	0.0092	H	0.98426	4.23	0.42493	D	0.992906	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.03773	-1.1005	9	0.87932	D	0	.	14.5586	0.68120	0.0:0.0:1.0:0.0	.	138;138;138;138	B4E3B1;Q95460-3;Q95460;Q95460-4	.;.;HMR1_HUMAN;.	W	138	ENSP00000388504:G138W;ENSP00000356552:G138W;ENSP00000282990:G138W	ENSP00000282990:G138W	G	+	1	0	MR1	179285853	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	4.723000	0.61965	2.362000	0.80069	0.460000	0.39030	GGG		0.502	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		T	181019230	G	T	181019230	3	4	474	1	0	0	0	0	1	0	0	0	9754	1116	39	4	422	4	MR1	1	181019230	Missense_Mutation	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	88070629	181019230	68231391	3	25723											
NPL	80896	hgsc.bcm.edu	37	1	182775301	182775301	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:182775301G>C	ENST00000367553.1	+	4	208	c.164G>C	c.(163-165)gGc>gCc	p.G55A	NPL_ENST00000367552.2_Missense_Mutation_p.G55A|NPL_ENST00000258317.2_Missense_Mutation_p.G55A|NPL_ENST00000367554.3_5'UTR|NPL_ENST00000367550.2_Missense_Mutation_p.G55A|NPL_ENST00000367555.1_Missense_Mutation_p.G55A|NPL_ENST00000463899.1_3'UTR	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	55					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						ACAGGAGAAGGCCTGTCCCTG	0.532																																																0													111	109	110					1																	182775301		2203	4300	6503	SO:0001583	missense	80896			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 1 (E. coli)"	611412	"chromosome 1 open reading frame 13"	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.164G>C	chr1.hg19:g.182775301G>C	ENSP00000356524:p.Gly55Ala		B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Missense_Mutation	SNP	ENST00000367553.1	hg19	CCDS1350.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482498	0.84747	.	.	ENSG00000135838	ENST00000367555;ENST00000367553;ENST00000367552;ENST00000258317;ENST00000367550	D;D;D;D;D	0.94897	-3.55;-1.53;-3.55;-1.53;-3.55	5.26	5.26	0.73747	Aldolase-type TIM barrel (1);	0.050750	0.85682	D	0.000000	D	0.95695	0.8600	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.969	D;D;P	0.74023	0.957;0.982;0.671	D	0.93397	0.6757	10	0.06625	T	0.88	-14.9114	15.7916	0.78369	0.0:0.0:1.0:0.0	.	55;55;55	Q9BXD5-4;Q9BXD5;Q9BXD5-3	.;NPL_HUMAN;.	A	55	ENSP00000356526:G55A;ENSP00000356524:G55A;ENSP00000356523:G55A;ENSP00000258317:G55A;ENSP00000356521:G55A	ENSP00000258317:G55A	G	+	2	0	NPL	181041924	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.722000	0.74735	2.451000	0.82905	0.563000	0.77884	GGC		0.532	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769		C	182775301	G	C	182775301	3	2	474	1	0	0	0	0	1	0	0	0	10587	1203	42	4	174	4	NPL	1	182775301	Missense_Mutation	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	1756071	182775301	66475320	4	25724											
CYP1B1	1545	hgsc.bcm.edu	37	2	38302357	38302357	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr2:38302357G>C	ENST00000260630.3	-	2	576	c.175C>G	c.(175-177)Ctg>Gtg	p.L59V	CYP1B1-AS1_ENST00000589303.1_RNA|CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.L59V|CYP1B1-AS1_ENST00000431999.1_RNA	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	59					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	TTTCCGATCAGTGGCCACGCA	0.721																																																0													8	10	9					2																	38302357		2147	4207	6354	SO:0001583	missense	1545			U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"Cytochrome P450s"	2597	protein-coding gene	gene with protein product		601771	"cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.175C>G	chr2.hg19:g.38302357G>C	ENSP00000260630:p.Leu59Val		Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	hg19	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	G	5.939	0.357214	0.11239	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.69561	-0.41;-0.41	4.29	2.42	0.29668	.	0.389391	0.24269	N	0.040011	T	0.50292	0.1607	N	0.20574	0.59	0.26804	N	0.969141	B	0.27910	0.193	B	0.38378	0.272	T	0.41627	-0.9498	10	0.14656	T	0.56	.	7.627	0.28218	0.0953:0.1661:0.7386:0.0	.	59	Q53TK1	.	V	59	ENSP00000260630:L59V;ENSP00000384972:L59V	ENSP00000260630:L59V	L	-	1	2	CYP1B1	38155861	0.008000	0.16893	0.990000	0.47175	0.027000	0.11550	0.123000	0.15708	0.415000	0.25817	-0.479000	0.04858	CTG		0.721	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		C	38302357	G	C	38302357	3	2	474	1	0	0	0	0	1	0	0	0	4153	1020	36	4	1464	4	CYP1B1	2	38302357	Missense_Mutation	SNP	G	TCGA-BQ-7048-01A-11D-1961-08		38302357	204897016	5	25725											
BCL2L11	10018	hgsc.bcm.edu	37	2	111921708	111921716	+	Splice_Site	DEL	AGGTATTTT	AGGTATTTT	-	rs142125092		TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	AGGTATTTT	AGGTATTTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr2:111921708_111921716delAGGTATTTT	ENST00000393256.3	+	4	771_778	c.498_505delAGGTATTTT	c.(496-507)agaggtattttt>agtt	p.166_169RGIF>S	BCL2L11_ENST00000308659.8_Splice_Site_p.106_109RGIF>S	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	166					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TTGTTGTTTCAGGTATTTTTGAATAATTA	0.445																																																0																																										SO:0001630	splice_region_variant	10018			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.499-1AGGTATTTT>-	chr2.hg19:g.111921708_111921716delAGGTATTTT			A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	In_Frame_Del	DEL	ENST00000393256.3	hg19	CCDS2089.1																																																																																				0.445	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3		In_Frame_Del	-	111921716	AGGTATTTT	-	111921708	8	5	474	1	0	1	0	1	0	0	1	0	1369	202	7	0	636	0	BCL2L11	2	111921708	Splice_Site	DEL	AGGTATTTT	TCGA-BQ-7048-01A-11D-1961-08	73619351	111921708	131277665	6	25726											
WDR33	55339	hgsc.bcm.edu	37	2	128526506	128526506	+	Splice_Site	SNP	C	C	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr2:128526506C>A	ENST00000322313.4	-	3	432		c.e3+1		WDR33_ENST00000393006.1_Splice_Site|WDR33_ENST00000409658.3_Splice_Site	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33						mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CATGTACTTACATCATTGTAA	0.323																																																0													138	126	130					2																	128526506		2203	4300	6503	SO:0001630	splice_region_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.273+1G>T	chr2.hg19:g.128526506C>A			Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Splice_Site	SNP	ENST00000322313.4	hg19	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530432	0.85706	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006;ENST00000409658;ENST00000408998	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8826	0.92362	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR33	128242976	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.506000	0.81665	2.627000	0.88993	0.655000	0.94253	.		0.323	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	Intron	A	128526506	C	A	128526506	5	1	474	1	0	0	0	0	0	0	1	0	17292	492	17	4	4225	4	WDR33	2	128526506	Splice_Site	SNP	C	TCGA-BQ-7048-01A-11D-1961-08	16604798	128526506	114672867	7	25727											
TRIP12	9320	hgsc.bcm.edu	37	2	230701700	230701702	+	Splice_Site	DEL	ACT	ACT	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	ACT	ACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr2:230701700_230701702delACT	ENST00000283943.5	-	5	1186	c.1008delAGT	c.(1006-1008)aga>ag	p.R338del	TRIP12_ENST00000409677.1_Splice_Site_p.R380del|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Splice_Site_p.R35del|TRIP12_ENST00000389044.4_Splice_Site_p.R380del	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	338					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCCTCGCCGACTACAACAGAAA	0.483																																																0																																										SO:0001630	splice_region_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1008-1AGT>-	chr2.hg19:g.230701700_230701702delACT			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Del	DEL	ENST00000283943.5	hg19	CCDS33391.1																																																																																				0.483	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	In_Frame_Del	-	230701702	ACT	-	230701700	8	5	474	1	0	1	0	1	0	0	1	0	16561	289	10	0	5118	0	TRIP12	2	230701700	Splice_Site	DEL	ACT	TCGA-BQ-7048-01A-11D-1961-08	102175194	230701700	12497673	8	25728											
PRICKLE2	166336	hgsc.bcm.edu	37	3	64084893	64084893	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr3:64084893A>G	ENST00000295902.6	-	8	2954	c.2369T>C	c.(2368-2370)tTc>tCc	p.F790S	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.F846S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	790					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTCTCCTAGGAAATAGCCCTC	0.567																																																0													76	77	77					3																	64084893		2203	4300	6503	SO:0001583	missense	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2369T>C	chr3.hg19:g.64084893A>G	ENSP00000295902:p.Phe790Ser		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	hg19	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039965	0.75732	.	.	ENSG00000163637	ENST00000295902	D	0.88046	-2.33	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92004	0.7467	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	D	0.92874	0.6317	10	0.87932	D	0	-40.9764	15.8395	0.78835	1.0:0.0:0.0:0.0	.	790	Q7Z3G6	PRIC2_HUMAN	S	790	ENSP00000295902:F790S	ENSP00000295902:F790S	F	-	2	0	PRICKLE2	64059933	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.152000	0.67230	0.533000	0.62120	TTC		0.567	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		G	64084893	A	G	64084893	3	3	474	1	0	0	0	0	1	0	0	0	12492	246	9	3	169	3	PRICKLE2	3	64084893	Missense_Mutation	SNP	A	TCGA-BQ-7048-01A-11D-1961-08		64084893	133937537	9	25729											
PLD1	5337	hgsc.bcm.edu	37	3	171394619	171394619	+	Silent	SNP	G	G	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr3:171394619G>A	ENST00000351298.4	-	18	2127	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	PLD1_ENST00000340989.4_Silent_p.F667F|PLD1_ENST00000342215.6_Missense_Mutation_p.S558L|PLD1_ENST00000356327.5_Silent_p.F629F	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	667	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCTGTCAATGAAATCTGCCC	0.542																																					NSCLC(149;2174 3517 34058)											0													52	46	48					3																	171394619		2203	4300	6503	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2001C>T	chr3.hg19:g.171394619G>A				Silent	SNP	ENST00000351298.4	hg19	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505561	0.64410	.	.	ENSG00000075651	ENST00000342215	T	0.34275	1.37	5.81	4.94	0.65067	.	.	.	.	.	T	0.46073	0.1374	.	.	.	0.28598	N	0.90932	.	.	.	.	.	.	T	0.42515	-0.9447	6	0.49607	T	0.09	-20.5851	14.4529	0.67397	0.0699:0.0:0.9301:0.0	.	.	.	.	L	558	ENSP00000339936:S558L	ENSP00000339936:S558L	S	-	2	0	PLD1	172877313	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.889000	0.56212	1.464000	0.47987	0.557000	0.71058	TCA		0.542	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		A	171394619	G	A	171394619	2	1	474	1	0	0	0	0	0	0	0	1	12047	1281	45	2		2	PLD1	3	171394619	Silent	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	107309726	171394619	26627811	10	25730											
SEL1L3	23231	hgsc.bcm.edu	37	4	25806261	25806261	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr4:25806261A>T	ENST00000399878.3	-	10	1800	c.1678T>A	c.(1678-1680)Ttt>Att	p.F560I	SEL1L3_ENST00000264868.5_Missense_Mutation_p.F525I|SEL1L3_ENST00000502949.1_Missense_Mutation_p.F407I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	560						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCCGTCAGAAAGGGGACGATA	0.433																																																0													93	89	90					4																	25806261		1896	4134	6030	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1678T>A	chr4.hg19:g.25806261A>T	ENSP00000382767:p.Phe560Ile		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	hg19	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076787	0.36662	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.13538	2.79;2.8;2.58	6.02	2.18	0.27775	Tetratricopeptide-like helical (1);	0.882014	0.10506	N	0.666713	T	0.12732	0.0309	L	0.47716	1.5	0.26551	N	0.973918	B	0.19445	0.036	B	0.12837	0.008	T	0.35375	-0.9791	10	0.20519	T	0.43	-0.7039	10.2524	0.43377	0.7466:0.0:0.2534:0.0	.	560	Q68CR1	SE1L3_HUMAN	I	560;525;407	ENSP00000382767:F560I;ENSP00000264868:F525I;ENSP00000425438:F407I	ENSP00000264868:F525I	F	-	1	0	SEL1L3	25415359	0.998000	0.40836	0.775000	0.31657	0.911000	0.54048	2.508000	0.45450	0.151000	0.19162	0.533000	0.62120	TTT		0.433	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		T	25806261	A	T	25806261	3	4	474	1	0	0	0	0	1	0	0	0	14018	72	3	5	1780	5	SEL1L3	4	25806261	Missense_Mutation	SNP	A	TCGA-BQ-7048-01A-11D-1961-08		25806261	165348015	11	25731											
C4orf39	152756	hgsc.bcm.edu	37	4	165878576	165878576	+	Silent	SNP	T	T	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr4:165878576T>C	ENST00000513876.2	+	1	477	c.402T>C	c.(400-402)ccT>ccC	p.P134P	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	134																	GGTCCCAGCCTCTTTTTGTGA	0.572																																																0													73	74	74					4																	165878576		2203	4300	6503	SO:0001819	synonymous_variant	152756			AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 39"	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.402T>C	chr4.hg19:g.165878576T>C				Silent	SNP	ENST00000513876.2	hg19	CCDS3807.1																																																																																				0.572	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364308.1	NM_153027		C	165878576	T	C	165878576	2	2	474	1	0	0	0	0	0	0	0	1	2270	1538	54	3		3	C4orf39	4	165878576	Silent	SNP	T	TCGA-BQ-7048-01A-11D-1961-08	140072315	165878576	25275700	12	25732											
CTNND2	1501	hgsc.bcm.edu	37	5	11117619	11117619	+	Silent	SNP	C	C	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr5:11117619C>A	ENST00000304623.8	-	13	2409	c.2220G>T	c.(2218-2220)acG>acT	p.T740T	CTNND2_ENST00000458100.2_Silent_p.T307T|CTNND2_ENST00000503622.1_Silent_p.T403T|CTNND2_ENST00000359640.2_Silent_p.T740T|CTNND2_ENST00000511377.1_Silent_p.T649T|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	740					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T740T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAAGGCATCCGTAAGCCCAT	0.507																																																1	Substitution - coding silent(1)	large_intestine(1)											215	174	188					5																	11117619		2203	4300	6503	SO:0001819	synonymous_variant	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2220G>T	chr5.hg19:g.11117619C>A			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	hg19	CCDS3881.1																																																																																				0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		A	11117619	C	A	11117619	2	1	474	1	0	0	0	0	0	0	0	1	4022	639	23	4		4	CTNND2	5	11117619	Silent	SNP	C	TCGA-BQ-7048-01A-11D-1961-08		11117619	169797641	13	25733											
TNPO1	3842	hgsc.bcm.edu	37	5	72151675	72151675	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr5:72151675G>A	ENST00000337273.5	+	4	706	c.280G>A	c.(280-282)Ggt>Agt	p.G94S	TNPO1_ENST00000506351.2_Missense_Mutation_p.G86S|TNPO1_ENST00000454282.1_Intron|TNPO1_ENST00000513944.1_3'UTR|TNPO1_ENST00000523768.1_Intron|TNPO1_ENST00000447967.2_Missense_Mutation_p.G86S	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	94	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTTCCCAAATGGTGTAACAGA	0.328																																																0													62	62	62					5																	72151675		2203	4297	6500	SO:0001583	missense	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.280G>A	chr5.hg19:g.72151675G>A	ENSP00000336712:p.Gly94Ser		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	hg19	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737401	0.49045	.	.	ENSG00000083312	ENST00000337273;ENST00000447967;ENST00000506351	T;T;T	0.65549	-0.16;-0.16;-0.16	4.89	4.89	0.63831	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.095869	0.64402	D	0.000001	T	0.43255	0.1239	N	0.10685	0.025	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29852	-0.9998	10	0.18276	T	0.48	-2.9577	18.4554	0.90718	0.0:0.0:1.0:0.0	.	94	Q92973	TNPO1_HUMAN	S	94;86;86	ENSP00000336712:G94S;ENSP00000415164:G86S;ENSP00000425118:G86S	ENSP00000336712:G94S	G	+	1	0	TNPO1	72187431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.320000	0.96346	2.430000	0.82344	0.650000	0.86243	GGT		0.328	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		A	72151675	G	A	72151675	3	1	474	1	0	0	0	0	1	0	0	0	16340	1348	47	2	294	2	TNPO1	5	72151675	Missense_Mutation	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	61034056	72151675	108763585	14	25734											
FNIP1	96459	hgsc.bcm.edu	37	5	131007378	131007379	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr5:131007378_131007379delCT	ENST00000510461.1	-	14	2853_2854	c.2758_2759delAG	c.(2758-2760)agtfs	p.S921fs	FNIP1_ENST00000307968.7_Frame_Shift_Del_p.S893fs|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Frame_Shift_Del_p.S876fs	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	921					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTTATCTGAACTCTCTTTATCC	0.416																																																0																																										SO:0001589	frameshift_variant	96459			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2758_2759delAG	chr5.hg19:g.131007382_131007383delCT	ENSP00000421985:p.Ser921fs		D6RJH5|Q86T47|Q9BUT0	Frame_Shift_Del	DEL	ENST00000510461.1	hg19	CCDS34227.1																																																																																				0.416	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		-	131007379	CT	-	131007378	7	5	474	1	0	1	0	1	0	0	0	0	5977	565	20	0	761	0	FNIP1	5	131007378	Frame_Shift_Del	DEL	CT	TCGA-BQ-7048-01A-11D-1961-08	58855703	131007378	49907882	15	25735											
FGF1	2246	hgsc.bcm.edu	37	5	141974869	141974869	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr5:141974869C>A	ENST00000359370.6	-	4	533	c.454G>T	c.(454-456)Gtc>Ttc	p.V152F	FGF1_ENST00000337706.2_Missense_Mutation_p.V152F|FGF1_ENST00000378046.1_Missense_Mutation_p.V152F|FGF1_ENST00000360966.5_3'UTR|AC005592.2_ENST00000414314.1_RNA|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000419524.2_Missense_Mutation_p.V152F|FGF1_ENST00000494579.1_5'UTR	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	152					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	TCAGAAGAGACTGGCAGGGGG	0.493																																																0													65	66	66					5																	141974869		2203	4300	6503	SO:0001583	missense	2246			X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"Endogenous ligands"	3665	protein-coding gene	gene with protein product	"heparin-binding growth factor 1", "endothelial cell growth factor, alpha", "endothelial cell growth factor, beta"	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.454G>T	chr5.hg19:g.141974869C>A	ENSP00000352329:p.Val152Phe		B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	ENST00000359370.6	hg19	CCDS4275.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694692	0.68386	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000441680;ENST00000419524	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.87	5.87	0.94306	.	0.081539	0.51477	D	0.000089	T	0.58133	0.2101	M	0.80982	2.52	0.54753	D	0.999984	P;D	0.53745	0.465;0.962	B;P	0.48189	0.132;0.57	T	0.64495	-0.6394	10	0.87932	D	0	.	20.2084	0.98285	0.0:1.0:0.0:0.0	.	151;152	A8K147;P05230	.;FGF1_HUMAN	F	152	ENSP00000352329:V152F;ENSP00000367285:V152F;ENSP00000338548:V152F;ENSP00000404742:V152F;ENSP00000396195:V152F	ENSP00000338548:V152F	V	-	1	0	FGF1	141955053	0.996000	0.38824	0.940000	0.37924	0.841000	0.47740	4.573000	0.60893	2.774000	0.95407	0.650000	0.86243	GTC		0.493	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132735.2	NM_000800		A	141974869	C	A	141974869	3	1	474	1	0	0	0	0	1	0	0	0	5840	565	20	4	17	4	FGF1	5	141974869	Missense_Mutation	SNP	C	TCGA-BQ-7048-01A-11D-1961-08	10967491	141974869	38940391	16	25736											
XPO5	57510	hgsc.bcm.edu	37	6	43541219	43541219	+	Silent	SNP	G	G	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:43541219G>C	ENST00000265351.7	-	2	435	c.225C>G	c.(223-225)gtC>gtG	p.V75V	POLH_ENST00000372236.4_5'Flank|POLH_ENST00000372226.1_5'Flank|POLH_ENST00000535400.1_5'Flank	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	75	Necessary for interaction with Ran.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTCCTTACTTGACAACGTGTT	0.433																																																0													87	85	86					6																	43541219		1910	4111	6021	SO:0001819	synonymous_variant	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.225C>G	chr6.hg19:g.43541219G>C			Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	hg19	CCDS47430.1																																																																																				0.433	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		C	43541219	G	C	43541219	2	2	474	1	0	0	0	0	0	0	0	1	17452	1277	45	4		4	XPO5	6	43541219	Silent	SNP	G	TCGA-BQ-7048-01A-11D-1961-08		43541219	127573848	17	25737											
LATS1	9113	hgsc.bcm.edu	37	6	150005370	150005370	+	Silent	SNP	G	G	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:150005370G>T	ENST00000543571.1	-	4	1402	c.855C>A	c.(853-855)atC>atA	p.I285I	LATS1_ENST00000253339.5_Silent_p.I285I|LATS1_ENST00000392273.3_Silent_p.I285I|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGATTCGGGAGATTACGTATT	0.532																																																0													153	144	147					6																	150005370		2203	4300	6503	SO:0001819	synonymous_variant	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.855C>A	chr6.hg19:g.150005370G>T				Silent	SNP	ENST00000543571.1	hg19	CCDS34551.1																																																																																				0.532	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		T	150005370	G	T	150005370	2	4	474	1	0	0	0	0	0	0	0	1	8648	932	33	4		4	LATS1	6	150005370	Silent	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	106464151	150005370	21109697	18	25738											
ESR1	2099	hgsc.bcm.edu	37	6	152201893	152201893	+	Silent	SNP	A	A	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:152201893A>G	ENST00000206249.3	+	3	1109	c.747A>G	c.(745-747)ggA>ggG	p.G249G	ESR1_ENST00000440973.1_Silent_p.G249G|ESR1_ENST00000456483.2_Silent_p.G249G|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Silent_p.G249G|ESR1_ENST00000427531.2_Silent_p.G76G|ESR1_ENST00000443427.1_Silent_p.G249G	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	249	Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	ACGAAGTGGGAATGATGAAAG	0.547																																																0													50	50	50					6																	152201893		2203	4300	6503	SO:0001819	synonymous_variant	2099			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.747A>G	chr6.hg19:g.152201893A>G			Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	hg19	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	A	9.711	1.157115	0.21454	.	.	ENSG00000091831	ENST00000427531	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58918	-0.7551	4	.	.	.	.	11.1314	0.48349	0.3958:0.3957:0.2085:0.0	.	.	.	.	G	154	.	.	E	+	2	0	ESR1	152243586	0.000000	0.05858	0.469000	0.27204	0.972000	0.66771	-2.223000	0.01214	-2.121000	0.00825	-1.074000	0.02243	GAA		0.547	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			G	152201893	A	G	152201893	2	3	474	1	0	0	0	0	0	0	0	1	5258	233	9	3		3	ESR1	6	152201893	Silent	SNP	A	TCGA-BQ-7048-01A-11D-1961-08	2196523	152201893	18913174	19	25739											
MYCT1	80177	hgsc.bcm.edu	37	6	153043198	153043198	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:153043198G>T	ENST00000367245.5	+	2	526	c.518G>T	c.(517-519)tGt>tTt	p.C173F	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	173						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTTCTGCAATGTCCACCACTT	0.498																																																0													89	87	88					6																	153043198		2203	4300	6503	SO:0001583	missense	80177			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.518G>T	chr6.hg19:g.153043198G>T	ENSP00000356214:p.Cys173Phe		Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	hg19	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.28|18.28	3.589712|3.589712	0.66105|0.66105	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.32753|.	1.44|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.364348|.	0.35838|.	N|.	0.002941|.	T|T	0.64875|0.64875	0.2638|0.2638	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	P;P|.	0.50617|.	0.937;0.853|.	P;P|.	0.49999|.	0.628;0.628|.	T|T	0.61907|0.61907	-0.6966|-0.6966	10|5	0.51188|.	T|.	0.08|.	-9.8469|-9.8469	16.985|16.985	0.86338|0.86338	0.0:0.1271:0.8729:0.0|0.0:0.1271:0.8729:0.0	.|.	125;173|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	F|F	173|154	ENSP00000356214:C173F|.	ENSP00000356214:C173F|.	C|V	+|+	2|1	0|0	MYCT1|MYCT1	153084891|153084891	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.964000|0.964000	0.63967|0.63967	5.162000|5.162000	0.64942|0.64942	2.727000|2.727000	0.93392|0.93392	0.579000|0.579000	0.79373|0.79373	TGT|GTC		0.498	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		T	153043198	G	T	153043198	3	4	474	1	0	0	0	0	1	0	0	0	10024	1377	48	4	524	4	MYCT1	6	153043198	Missense_Mutation	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	841305	153043198	18071869	20	25740											
TTLL2	83887	hgsc.bcm.edu	37	6	167755036	167755036	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:167755036G>T	ENST00000239587.5	+	3	1736	c.1648G>T	c.(1648-1650)Gat>Tat	p.D550Y		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	550					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CAAAGCTCCAGATCCCCAAGC	0.502																																																0													113	104	107					6																	167755036		2203	4300	6503	SO:0001583	missense	83887			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1648G>T	chr6.hg19:g.167755036G>T	ENSP00000239587:p.Asp550Tyr		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	hg19	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	G	4.684	0.127134	0.08981	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02395	4.31	4.04	-7.0	0.01599	.	2.486670	0.01433	N	0.014832	T	0.00552	0.0018	N	0.14661	0.345	0.09310	N	1	B	0.23185	0.081	B	0.16722	0.016	T	0.45659	-0.9246	10	0.56958	D	0.05	.	3.3015	0.06984	0.368:0.3942:0.1298:0.108	.	550	Q9BWV7	TTLL2_HUMAN	Y	550;477	ENSP00000239587:D550Y	ENSP00000239587:D550Y	D	+	1	0	TTLL2	167675026	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.123000	0.15708	-1.248000	0.02503	0.491000	0.48974	GAT		0.502	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		T	167755036	G	T	167755036	3	4	474	1	0	0	0	0	1	0	0	0	16732	942	33	4	1658	4	TTLL2	6	167755036	Missense_Mutation	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	14711838	167755036	3360031	21	25741											
FOXK1	221937	hgsc.bcm.edu	37	7	4780549	4780549	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr7:4780549C>A	ENST00000328914.4	+	2	641	c.641C>A	c.(640-642)cCg>cAg	p.P214Q	FOXK1_ENST00000446823.1_Missense_Mutation_p.P51Q	NM_001037165.1	NP_001032242.1			forkhead box K1									p.P40L(1)|p.P214L(1)|p.P40Q(1)|p.P214Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCAGCCTCCCCGCTGCGGCCA	0.647																																																4	Substitution - Missense(4)	large_intestine(2)|lung(2)											105	113	110					7																	4780549		2203	4300	6503	SO:0001583	missense	221937			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.641C>A	chr7.hg19:g.4780549C>A	ENSP00000328720:p.Pro214Gln			Missense_Mutation	SNP	ENST00000328914.4	hg19	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240773	0.79912	.	.	ENSG00000164916	ENST00000446823;ENST00000328914;ENST00000545598	D;D	0.96136	-3.63;-3.92	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	M	0.68317	2.08	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.845	D;D;P	0.91635	0.999;0.995;0.513	D	0.97390	0.9988	10	0.51188	T	0.08	.	17.8708	0.88810	0.0:1.0:0.0:0.0	.	214;97;51	P85037;F5H8G8;P85037-2	FOXK1_HUMAN;.;.	Q	51;214;97	ENSP00000394442:P51Q;ENSP00000328720:P214Q	ENSP00000328720:P214Q	P	+	2	0	FOXK1	4747075	1.000000	0.71417	0.679000	0.29978	0.718000	0.41266	7.684000	0.84104	2.449000	0.82847	0.563000	0.77884	CCG		0.647	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			A	4780549	C	A	4780549	3	1	474	1	0	0	0	0	1	0	0	0	6016	652	23	4	647	4	FOXK1	7	4780549	Missense_Mutation	SNP	C	TCGA-BQ-7048-01A-11D-1961-08		4780549	154358114	22	25742											
AUTS2	26053	hgsc.bcm.edu	37	7	70255838	70255838	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr7:70255838delT	ENST00000342771.4	+	19	3957	c.3636delT	c.(3634-3636)cctfs	p.P1213fs	AUTS2_ENST00000406775.2_Frame_Shift_Del_p.P1189fs	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1213										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACAAGACCCCTCCGACAGCAG	0.677																																																0													43	48	46					7																	70255838		2203	4299	6502	SO:0001589	frameshift_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3636delT	chr7.hg19:g.70255838delT	ENSP00000344087:p.Pro1213fs		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Frame_Shift_Del	DEL	ENST00000342771.4	hg19	CCDS5539.1																																																																																				0.677	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			-	70255838	T	-	70255838	7	5	474	1	0	1	0	1	0	0	0	0	1225	1538	54	0	3855	0	AUTS2	7	70255838	Frame_Shift_Del	DEL	T	TCGA-BQ-7048-01A-11D-1961-08	65475289	70255838	88882825	23	25743											
TBL2	26608	hgsc.bcm.edu	37	7	72988278	72988278	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr7:72988278G>A	ENST00000305632.5	-	3	677	c.436C>T	c.(436-438)Cct>Tct	p.P146S	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.P146S|TBL2_ENST00000432538.1_Missense_Mutation_p.P110S	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	146							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGCAGTCAGGGCTGAAGCGC	0.612																																																0													95	75	82					7																	72988278		2203	4300	6503	SO:0001583	missense	26608			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.436C>T	chr7.hg19:g.72988278G>A	ENSP00000307260:p.Pro146Ser		Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	hg19	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841121	0.91197	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.38077	1.16;1.16;1.16	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66701	-0.5857	10	0.49607	T	0.09	-9.9847	16.4333	0.83861	0.0:0.0:1.0:0.0	.	110;146	E9PF19;Q9Y4P3	.;TBL2_HUMAN	S	146;146;110;146	ENSP00000307260:P146S;ENSP00000413979:P110S;ENSP00000407371:P146S	ENSP00000307260:P146S	P	-	1	0	TBL2	72626214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.735000	0.98825	2.491000	0.84063	0.561000	0.74099	CCT		0.612	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		A	72988278	G	A	72988278	3	1	474	1	0	0	0	0	1	0	0	0	15647	1232	43	2	927	2	TBL2	7	72988278	Missense_Mutation	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	2732440	72988278	86150385	24	25744											
MFHAS1	9258	hgsc.bcm.edu	37	8	8750559	8750559	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr8:8750559T>C	ENST00000276282.6	-	1	596	c.10A>G	c.(10-12)Atg>Gtg	p.M4V	RNU6-682P_ENST00000363843.1_RNA	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	4										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCACTGTCCATCCCAGCCATG	0.756																																					Melanoma(103;1201 2045 17515 28966)											0													3	3	3					8																	8750559		1577	3199	4776	SO:0001583	missense	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.10A>G	chr8.hg19:g.8750559T>C	ENSP00000276282:p.Met4Val		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	hg19	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878455	0.33162	.	.	ENSG00000147324	ENST00000276282	T	0.33216	1.42	3.87	2.66	0.31614	.	1.223050	0.06260	N	0.693747	T	0.17152	0.0412	N	0.08118	0	0.21105	N	0.99978	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	10	0.23891	T	0.37	.	8.696	0.34296	0.0:0.0:0.1918:0.8082	.	4	Q9Y4C4	MFHA1_HUMAN	V	4	ENSP00000276282:M4V	ENSP00000276282:M4V	M	-	1	0	MFHAS1	8787969	0.980000	0.34600	0.977000	0.42913	0.611000	0.37282	2.561000	0.45905	0.513000	0.28278	0.369000	0.22263	ATG		0.756	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		C	8750559	T	C	8750559	3	2	474	1	0	0	0	0	1	0	0	0	9523	1435	50	3	3160	3	MFHAS1	8	8750559	Missense_Mutation	SNP	T	TCGA-BQ-7048-01A-11D-1961-08		8750559	137613463	25	25745											
MTUS1	57509	hgsc.bcm.edu	37	8	17581310	17581310	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr8:17581310A>G	ENST00000262102.6	-	4	2544	c.2320T>C	c.(2320-2322)Tca>Cca	p.S774P	MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000544260.1_5'Flank|MTUS1_ENST00000381861.3_5'Flank|MTUS1_ENST00000519263.1_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	774					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTCACCCATGACGACTGTGCA	0.463																																																0													152	141	144					8																	17581310		1865	4099	5964	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2320T>C	chr8.hg19:g.17581310A>G	ENSP00000262102:p.Ser774Pro		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	hg19	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980872	0.53827	.	.	ENSG00000129422	ENST00000262102	T	0.42900	0.96	3.8	3.8	0.43715	.	2.627820	0.01895	N	0.038843	T	0.55081	0.1898	L	0.32530	0.975	0.53688	D	0.999979	D	0.69078	0.997	D	0.64410	0.925	T	0.44528	-0.9322	10	0.29301	T	0.29	-2.2162	12.137	0.53977	1.0:0.0:0.0:0.0	.	774	Q9ULD2	MTUS1_HUMAN	P	774	ENSP00000262102:S774P	ENSP00000262102:S774P	S	-	1	0	MTUS1	17625590	0.099000	0.21834	0.064000	0.19789	0.885000	0.51271	2.939000	0.48995	1.933000	0.56026	0.533000	0.62120	TCA		0.463	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		G	17581310	A	G	17581310	3	3	474	1	0	0	0	0	1	0	0	0	9967	275	10	3	1859	3	MTUS1	8	17581310	Missense_Mutation	SNP	A	TCGA-BQ-7048-01A-11D-1961-08	8830751	17581310	128782712	26	25746											
CLTA	1211	hgsc.bcm.edu	37	9	36211662	36211662	+	Frame_Shift_Del	DEL	G	G	-	rs192679731		TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr9:36211662delG	ENST00000242285.6	+	7	758	c.638delG	c.(637-639)cggfs	p.R213fs	CLTA_ENST00000345519.5_Frame_Shift_Del_p.R183fs|CLTA_ENST00000538225.1_Frame_Shift_Del_p.R195fs|CLTA_ENST00000433436.2_Frame_Shift_Del_p.R213fs|CLTA_ENST00000470744.1_Frame_Shift_Del_p.R195fs|CLTA_ENST00000466396.1_Frame_Shift_Del_p.R161fs|CLTA_ENST00000540080.1_Frame_Shift_Del_p.R131fs|CLTA_ENST00000396603.2_Frame_Shift_Del_p.R201fs			P09496	CLCA_HUMAN	clathrin, light chain A	213					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			GAGTGGGAACGGGTGGCCCGG	0.542																																																0													99	94	96					9																	36211662		2203	4300	6503	SO:0001589	frameshift_variant	1211				CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"clathrin, light polypeptide (Lca)"			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.638delG	chr9.hg19:g.36211662delG	ENSP00000242285:p.Arg213fs		A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Frame_Shift_Del	DEL	ENST00000242285.6	hg19	CCDS6601.1																																																																																				0.542	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052405.1	NM_007096		-	36211662	G	-	36211662	7	5	474	1	0	1	0	1	0	0	0	0	3566	1116	39	0	664	0	CLTA	9	36211662	Frame_Shift_Del	DEL	G	TCGA-BQ-7048-01A-11D-1961-08		36211662	105001769	27	25747											
TGFBR1	7046	hgsc.bcm.edu	37	9	101894937	101894937	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr9:101894937C>G	ENST00000374994.4	+	3	607	c.490C>G	c.(490-492)Cct>Gct	p.P164A	TGFBR1_ENST00000550253.1_Missense_Mutation_p.P95A|TGFBR1_ENST00000374990.2_Intron|TGFBR1_ENST00000552516.1_Missense_Mutation_p.P168A	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	164					activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGAAGAGGACCCTTCATTAGA	0.438																																																0													160	135	144					9																	101894937		2203	4300	6503	SO:0001583	missense	7046				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.490C>G	chr9.hg19:g.101894937C>G	ENSP00000364133:p.Pro164Ala		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	hg19	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864541	0.51482	.	.	ENSG00000106799	ENST00000547314;ENST00000552573;ENST00000374994;ENST00000540092;ENST00000552516;ENST00000548365;ENST00000550253;ENST00000546584	T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	L	0.58583	1.82	0.80722	D	1	B	0.28850	0.225	B	0.31290	0.127	T	0.63310	-0.6666	10	0.11182	T	0.66	.	19.3122	0.94192	0.0:1.0:0.0:0.0	.	164	P36897	TGFR1_HUMAN	A	95;99;164;164;168;99;95;161	ENSP00000449934:P95A;ENSP00000447182:P99A;ENSP00000364133:P164A;ENSP00000447297:P168A;ENSP00000448518:P99A;ENSP00000450052:P95A;ENSP00000447707:P161A	ENSP00000364133:P164A	P	+	1	0	TGFBR1	100934758	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	CCT		0.438	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			G	101894937	C	G	101894937	3	3	474	1	0	0	0	0	1	0	0	0	15826	623	22	4	500	4	TGFBR1	9	101894937	Missense_Mutation	SNP	C	TCGA-BQ-7048-01A-11D-1961-08	65683275	101894937	39318494	28	25748											
ANK3	288	hgsc.bcm.edu	37	10	61829643	61829643	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr10:61829643T>C	ENST00000280772.2	-	37	11187	c.10996A>G	c.(10996-10998)Act>Gct	p.T3666A	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3666					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTCTACAGTGGTGTCCCCT	0.532																																																0													105	110	108					10																	61829643		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10996A>G	chr10.hg19:g.61829643T>C	ENSP00000280772:p.Thr3666Ala		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	7.641	0.680808	0.14907	.	.	ENSG00000151150	ENST00000280772	T	0.18016	2.24	5.67	1.95	0.26073	.	0.170468	0.27831	N	0.017678	T	0.09730	0.0239	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.41790	T	0.15	.	4.0495	0.09788	0.2679:0.1431:0.0:0.589	.	3666	Q12955	ANK3_HUMAN	A	3666	ENSP00000280772:T3666A	ENSP00000280772:T3666A	T	-	1	0	ANK3	61499649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.468000	0.35332	0.366000	0.24427	0.533000	0.62120	ACT		0.532	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61829643	T	C	61829643	3	2	474	1	0	0	0	0	1	0	0	0	622	1696	59	3	2478	3	ANK3	10	61829643	Missense_Mutation	SNP	T	TCGA-BQ-7048-01A-11D-1961-08		61829643	73705104	29	25749											
SFTPD	6441	hgsc.bcm.edu	37	10	81702148	81702148	+	Silent	SNP	G	G	C	rs2077117		TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr10:81702148G>C	ENST00000372292.3	-	4	469	c.429C>G	c.(427-429)ccC>ccG	p.P143P		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	143	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			ACCTACCTTTGGGCCCAGCTT	0.607																																																0													82	75	77					10																	81702148		2203	4300	6503	SO:0001819	synonymous_variant	6441			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.429C>G	chr10.hg19:g.81702148G>C			Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Silent	SNP	ENST00000372292.3	hg19	CCDS7362.1																																																																																				0.607	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			C	81702148	G	C	81702148	2	2	474	1	0	0	0	0	0	0	0	1	14199	1335	47	4		4	SFTPD	10	81702148	Silent	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	19872505	81702148	53832599	30	25750											
CALHM2	51063	hgsc.bcm.edu	37	10	105209181	105209181	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr10:105209181C>A	ENST00000260743.5	-	3	1041	c.518G>T	c.(517-519)cGg>cTg	p.R173L	CALHM2_ENST00000393235.1_Missense_Mutation_p.R173L|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.R173L|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	173					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GACCTCCTCCCGGAAGTCTGA	0.602																																																0													63	65	64					10																	105209181		2202	4298	6500	SO:0001583	missense	51063			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.518G>T	chr10.hg19:g.105209181C>A	ENSP00000260743:p.Arg173Leu		D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	hg19	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623943	0.46840	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.19394	2.15;2.15;2.15	5.45	2.22	0.28083	.	0.419984	0.23239	N	0.050361	T	0.19287	0.0463	L	0.56199	1.76	0.30873	N	0.732274	P;B;B	0.37573	0.6;0.312;0.267	B;B;B	0.37304	0.193;0.103;0.246	T	0.11842	-1.0571	10	0.56958	D	0.05	-35.5257	7.6922	0.28575	0.0:0.5628:0.0:0.4372	.	173;173;173	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	L	173	ENSP00000358803:R173L;ENSP00000260743:R173L;ENSP00000376927:R173L	ENSP00000260743:R173L	R	-	2	0	CALHM2	105199171	0.974000	0.33945	1.000000	0.80357	0.887000	0.51463	0.723000	0.25939	0.689000	0.31550	-0.215000	0.12644	CGG		0.602	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		A	105209181	C	A	105209181	3	1	474	1	0	0	0	0	1	0	0	0	2585	652	23	4	461	4	CALHM2	10	105209181	Missense_Mutation	SNP	C	TCGA-BQ-7048-01A-11D-1961-08	23507033	105209181	30325566	31	25751											
ADD3	120	hgsc.bcm.edu	37	10	111878343	111878343	+	Splice_Site	SNP	A	A	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr10:111878343A>G	ENST00000356080.4	+	6	934		c.e6-1		ADD3_ENST00000497125.1_Splice_Site|ADD3_ENST00000360162.3_Splice_Site|ADD3_ENST00000277900.8_Splice_Site	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)							cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GATTTTTTCCAGGTGAAAGTC	0.378																																																0													102	104	103					10																	111878343		2203	4300	6503	SO:0001630	splice_region_variant	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.568-1A>G	chr10.hg19:g.111878343A>G			D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Splice_Site	SNP	ENST00000356080.4	hg19	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.241968	0.58995	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	.	.	.	5.28	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8604	0.52463	0.8691:0.0:0.0:0.1309	.	.	.	.	.	-1	.	.	.	+	.	.	ADD3	111868333	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.423000	0.80229	0.905000	0.36596	0.460000	0.39030	.		0.378	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903	Intron	G	111878343	A	G	111878343	5	3	474	1	0	0	0	0	0	0	1	0	306	202	7	3	584	3	ADD3	10	111878343	Splice_Site	SNP	A	TCGA-BQ-7048-01A-11D-1961-08	6669162	111878343	23656404	32	25752											
MICALCL	84953	hgsc.bcm.edu	37	11	12316190	12316190	+	Silent	SNP	C	C	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr11:12316190C>T	ENST00000256186.2	+	3	1503	c.1212C>T	c.(1210-1212)gaC>gaT	p.D404D		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	404					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GACTCAAAGACAAATCTTTTG	0.468																																																0													121	123	122					11																	12316190		1848	4097	5945	SO:0001819	synonymous_variant	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1212C>T	chr11.hg19:g.12316190C>T			Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	hg19	CCDS41620.1																																																																																				0.468	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		T	12316190	C	T	12316190	2	4	474	1	0	0	0	0	0	0	0	1	9574	477	17	2		2	MICALCL	11	12316190	Silent	SNP	C	TCGA-BQ-7048-01A-11D-1961-08		12316190	122690326	33	25753											
OR8U8	219417	hgsc.bcm.edu	37	11	56143937	56143937	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr11:56143937G>C	ENST00000302270.1	+	1	838	c.838G>C	c.(838-840)Gtg>Ctg	p.V280L		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTTCTACACAGTGATCATTCC	0.413																																																0													143	148	146					11																	56143937		2044	4227	6271	SO:0001583	missense	219417			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"GPCR / Class A : Olfactory receptors"	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.838G>C	chr11.hg19:g.56143937G>C	ENSP00000304188:p.Val280Leu			Missense_Mutation	SNP	ENST00000302270.1	hg19	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.254672	0.01457	.	.	ENSG00000172199	ENST00000302270	T	0.00279	8.33	5.69	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.174841	0.27411	N	0.019484	T	0.00178	0.0005	N	0.21448	0.665	0.09310	N	1	B	0.28933	0.228	B	0.41666	0.363	T	0.23940	-1.0174	10	0.11794	T	0.64	.	7.9511	0.30014	0.1954:0.1192:0.6855:0.0	.	280	Q8NH10	OR8U1_HUMAN	L	280	ENSP00000304188:V280L	ENSP00000304188:V280L	V	+	1	0	OR8U1	55900513	0.061000	0.20836	0.998000	0.56505	0.181000	0.23173	0.606000	0.24194	1.425000	0.47237	-0.245000	0.11935	GTG		0.413	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		C	56143937	G	C	56143937	3	2	474	1	0	0	0	0	1	0	0	0	11249	1029	36	4	32	4	OR8U8	11	56143937	Missense_Mutation	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	43827747	56143937	78862579	34	25754											
C1QTNF5	114902	hgsc.bcm.edu	37	11	119210071	119210071	+	Silent	SNP	G	G	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr11:119210071G>C	ENST00000528368.1	-	3	933	c.702C>G	c.(700-702)tcC>tcG	p.S234S	C1QTNF5_ENST00000445041.2_Silent_p.S234S|RP11-334E6.10_ENST00000501918.2_RNA|MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	234	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TGTGCCAGTCGGAGTACACCA	0.552																																																0													100	93	96					11																	119210071		2199	4295	6494	SO:0001819	synonymous_variant	114902			AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"complement-c1q tumor necrosis factor-related protein 5", "complement C1q tumor necrosis factor-related protein 5 precursor variant 3"	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.702C>G	chr11.hg19:g.119210071G>C			A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Silent	SNP	ENST00000528368.1	hg19	CCDS8420.1																																																																																				0.552	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388354.1	NM_015645		C	119210071	G	C	119210071	2	2	474	1	0	0	0	0	0	0	0	1	1968	1103	39	4		4	C1QTNF5	11	119210071	Silent	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	63066134	119210071	15796445	35	25755											
LRP6	4040	hgsc.bcm.edu	37	12	12302076	12302076	+	Silent	SNP	C	C	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr12:12302076C>T	ENST00000261349.4	-	14	3082	c.3006G>A	c.(3004-3006)gtG>gtA	p.V1002V	LRP6_ENST00000543091.1_Silent_p.V1002V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1002	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGCTCACAACCACAGTAAAGC	0.453																																																0													135	137	136					12																	12302076		2203	4300	6503	SO:0001819	synonymous_variant	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3006G>A	chr12.hg19:g.12302076C>T			Q17RZ2	Silent	SNP	ENST00000261349.4	hg19	CCDS8647.1																																																																																				0.453	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			T	12302076	C	T	12302076	2	4	474	1	0	0	0	0	0	0	0	1	8964	581	21	2		2	LRP6	12	12302076	Silent	SNP	C	TCGA-BQ-7048-01A-11D-1961-08		12302076	121549819	36	25756											
C12orf54	121273	hgsc.bcm.edu	37	12	48888593	48888593	+	Silent	SNP	T	T	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr12:48888593T>C	ENST00000548364.1	+	7	312	c.255T>C	c.(253-255)ccT>ccC	p.P85P	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000314014.2_Silent_p.P85P			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	85										endometrium(1)|large_intestine(4)	5						GCATAAGGCCTCCAGATTCCT	0.488																																																0													114	116	116					12																	48888593		2203	4300	6503	SO:0001819	synonymous_variant	121273			BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.255T>C	chr12.hg19:g.48888593T>C			Q6X4S9|Q8N5S2	Silent	SNP	ENST00000548364.1	hg19	CCDS8764.1																																																																																				0.488	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406875.1	NM_152319		C	48888593	T	C	48888593	2	2	474	1	0	0	0	0	0	0	0	1	1701	1538	54	3		3	C12orf54	12	48888593	Silent	SNP	T	TCGA-BQ-7048-01A-11D-1961-08	36586517	48888593	84963302	37	25757											
MLL2	8085	hgsc.bcm.edu	37	12	49437679	49437679	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr12:49437679A>G	ENST00000301067.7	-	22	5290	c.5291T>C	c.(5290-5292)cTg>cCg	p.L1764P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1764					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CATGTCCTCCAGTTTGCTCTT	0.567											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													166	177	174					12																	49437679		2147	4242	6389	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5291T>C	chr12.hg19:g.49437679A>G	ENSP00000301067:p.Leu1764Pro	962	O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.462524	0.43736	.	.	ENSG00000167548	ENST00000301067	D	0.92199	-2.99	4.93	4.93	0.64822	.	.	.	.	.	D	0.94925	0.8359	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95361	0.8455	9	0.87932	D	0	.	13.5598	0.61782	1.0:0.0:0.0:0.0	.	1764	O14686	MLL2_HUMAN	P	1764	ENSP00000301067:L1764P	ENSP00000301067:L1764P	L	-	2	0	MLL2	47723946	1.000000	0.71417	0.941000	0.38009	0.935000	0.57460	9.259000	0.95561	1.846000	0.53633	0.260000	0.18958	CTG		0.567	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49437679	A	G	49437679	3	3	474	1	0	0	0	0	1	0	0	0	9623	188	7	3	11454	3	MLL2	12	49437679	Missense_Mutation	SNP	A	TCGA-BQ-7048-01A-11D-1961-08	549086	49437679	84414216	38	25758											
KCTD4	386618	hgsc.bcm.edu	37	13	45768267	45768269	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	TTA	TTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr13:45768267_45768269delTTA	ENST00000379108.1	-	1	583_585	c.434_436delTAA	c.(433-438)ataaca>aca	p.I145del	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000405872.1_In_Frame_Del_p.I145del			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	145					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TGGTTATCTGTTATTTCCAAGAA	0.414																																																0																																										SO:0001651	inframe_deletion	386618			BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 4"				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.434_436delTAA	chr13.hg19:g.45768267_45768269delTTA	ENSP00000368402:p.Ile145del		Q5W0P9	In_Frame_Del	DEL	ENST00000379108.1	hg19	CCDS9396.1																																																																																				0.414	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1			-	45768269	TTA	-	45768267	7	5	474	1	0	1	0	1	0	0	0	0	8113	1725	60	0	347	0	KCTD4	13	45768267	In_Frame_Del	DEL	TTA	TCGA-BQ-7048-01A-11D-1961-08		45768267	69401611	39	25759											
KLHDC1	122773	hgsc.bcm.edu	37	14	50196254	50196254	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr14:50196254C>G	ENST00000359332.2	+	8	788	c.698C>G	c.(697-699)aCt>aGt	p.T233S	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	233						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GACACCTGGACTTGGTCTGGA	0.348																																																0													115	104	108					14																	50196254		2203	4299	6502	SO:0001583	missense	122773			AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.698C>G	chr14.hg19:g.50196254C>G	ENSP00000352282:p.Thr233Ser		B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	hg19	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	C	9.838	1.190260	0.21954	.	.	ENSG00000197776	ENST00000359332;ENST00000557128	T;T	0.67523	-0.27;-0.27	5.78	1.34	0.21922	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.164679	0.53938	D	0.000057	T	0.48241	0.1489	N	0.25485	0.75	0.23636	N	0.997233	B;B	0.30361	0.277;0.085	B;B	0.31547	0.132;0.038	T	0.30297	-0.9983	10	0.21014	T	0.42	-0.3182	9.4425	0.38677	0.0:0.5979:0.0:0.4021	.	104;233	G3V3T1;Q8N7A1	.;KLDC1_HUMAN	S	233;104	ENSP00000352282:T233S;ENSP00000451407:T104S	ENSP00000352282:T233S	T	+	2	0	KLHDC1	49266004	0.933000	0.31639	0.991000	0.47740	0.956000	0.61745	0.163000	0.16520	-0.028000	0.13850	-0.237000	0.12165	ACT		0.348	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		G	50196254	C	G	50196254	3	3	474	1	0	0	0	0	1	0	0	0	8356	565	20	4	728	4	KLHDC1	14	50196254	Missense_Mutation	SNP	C	TCGA-BQ-7048-01A-11D-1961-08		50196254	57153286	40	25760											
ENTPD5	957	hgsc.bcm.edu	37	14	74443764	74443765	+	Splice_Site	INS	-	-	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr14:74443764_74443765insA	ENST00000334696.6	-	8	837		c.e8-2		ENTPD5_ENST00000557325.1_Splice_Site	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5						'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CTAATATGCCTAAAAAGAAAGA	0.366																																																0																																										SO:0001630	splice_region_variant	957			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"proto-oncogene CPH"	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.518-2->T	chr14.hg19:g.74443769_74443769dupA			A1L4C5|Q96RX0	Splice_Site	INS	ENST00000334696.6	hg19	CCDS9825.1																																																																																				0.366	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249	Intron	A	74443765	-	A	74443764	8	5	474	1	0	1	1	0	0	0	1	0	5144	1536	53	0	806	0	ENTPD5	14	74443764	Splice_Site	INS	-	TCGA-BQ-7048-01A-11D-1961-08	24247510	74443764	32905776	41	25761											
GABRG3	2567	hgsc.bcm.edu	37	15	27777965	27777965	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr15:27777965T>C	ENST00000333743.6	+	10	1596	c.1342T>C	c.(1342-1344)Ttt>Ctt	p.F448L	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	448					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCCCGGGTCTTTTTCCCCAC	0.473																																					NSCLC(114;800 1656 7410 37729 45293)											0													72	73	73					15																	27777965		1952	4142	6094	SO:0001583	missense	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1342T>C	chr15.hg19:g.27777965T>C	ENSP00000331912:p.Phe448Leu		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	hg19	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.954120	0.53293	.	.	ENSG00000182256	ENST00000333743	T	0.80824	-1.42	5.75	3.4	0.38934	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.175067	0.50627	D	0.000109	T	0.65080	0.2657	N	0.20401	0.57	0.80722	D	1	B	0.25206	0.12	B	0.33196	0.159	T	0.49504	-0.8933	10	0.08837	T	0.75	.	7.9945	0.30261	0.0:0.0709:0.1369:0.7922	.	448	Q99928	GBRG3_HUMAN	L	448	ENSP00000331912:F448L	ENSP00000331912:F448L	F	+	1	0	GABRG3	25451560	1.000000	0.71417	0.319000	0.25293	0.894000	0.52154	4.846000	0.62860	0.422000	0.26005	0.528000	0.53228	TTT		0.473	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			C	27777965	T	C	27777965	3	2	474	1	0	0	0	0	1	0	0	0	6175	1609	56	3	1380	3	GABRG3	15	27777965	Missense_Mutation	SNP	T	TCGA-BQ-7048-01A-11D-1961-08		27777965	74753427	42	25762											
MESDC2	23184	hgsc.bcm.edu	37	15	81282037	81282037	+	Silent	SNP	G	G	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr15:81282037G>A	ENST00000261758.4	-	1	182	c.96C>T	c.(94-96)tgC>tgT	p.C32C	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	32	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CTTCGGCCGCGCAGGACCCAG	0.637																																																0													35	35	35					15																	81282037		2203	4298	6501	SO:0001819	synonymous_variant	23184			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.96C>T	chr15.hg19:g.81282037G>A			B4DW84|D3DW96|Q969U1	Silent	SNP	ENST00000261758.4	hg19	CCDS32308.1																																																																																				0.637	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		A	81282037	G	A	81282037	2	1	474	1	0	0	0	0	0	0	0	1	9483	1079	38	1		1	MESDC2	15	81282037	Silent	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	53504072	81282037	21249355	43	25763											
RNF157	114804	hgsc.bcm.edu	37	17	74158077	74158077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr17:74158077C>A	ENST00000269391.6	-	10	931	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	RNF157_ENST00000319945.6_Nonsense_Mutation_p.E267*	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	267							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACTTCGTCTTCAGCCACCTGG	0.527																																					GBM(186;507 2120 27388 27773 52994)											0													96	68	78					17																	74158077		2203	4300	6503	SO:0001587	stop_gained	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.799G>T	chr17.hg19:g.74158077C>A	ENSP00000269391:p.Glu267*		Q8NB72|Q96N56	Nonsense_Mutation	SNP	ENST00000269391.6	hg19	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	38	6.984953	0.97983	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	.	.	.	5.73	5.73	0.89815	.	0.044080	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.6068	19.893	0.96937	0.0:1.0:0.0:0.0	.	.	.	.	X	267;267;229	.	ENSP00000269391:E267X	E	-	1	0	RNF157	71669672	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.782000	0.85680	2.693000	0.91896	0.655000	0.94253	GAA		0.527	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		A	74158077	C	A	74158077	4	1	474	1	0	0	0	0	0	1	0	0	13460	835	29	4	1280	4	RNF157	17	74158077	Nonsense_Mutation	SNP	C	TCGA-BQ-7048-01A-11D-1961-08		74158077	7037133	44	25764											
TMC6	11322	hgsc.bcm.edu	37	17	76115385	76115385	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr17:76115385G>C	ENST00000590602.1	-	14	1963	c.1804C>G	c.(1804-1806)Ctg>Gtg	p.L602V	TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.L181V|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.L602V|TMC6_ENST00000591436.1_Missense_Mutation_p.L181V|TMC6_ENST00000392467.3_Missense_Mutation_p.L602V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	602					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCAGGTCAGAGTCTGCCCA	0.622																																																0													133	117	123					17																	76115385		2203	4300	6503	SO:0001583	missense	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1804C>G	chr17.hg19:g.76115385G>C	ENSP00000465261:p.Leu602Val		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	hg19	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992746	0.74703	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933;ENST00000392466	T;T;T	0.67698	-0.28;-0.28;-0.28	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000002	T	0.79707	0.4492	L	0.60904	1.88	0.47994	D	0.999565	D;D	0.89917	0.998;1.0	D;D	0.83275	0.98;0.996	T	0.82232	-0.0559	10	0.72032	D	0.01	-16.0397	17.6365	0.88123	0.0:0.0:1.0:0.0	.	602;181	Q7Z403;Q7Z403-3	TMC6_HUMAN;.	V	602;602;181;68	ENSP00000313408:L602V;ENSP00000376260:L602V;ENSP00000313479:L181V	ENSP00000313408:L602V	L	-	1	2	TMC6	73626980	1.000000	0.71417	0.980000	0.43619	0.951000	0.60555	3.385000	0.52485	2.164000	0.68074	0.555000	0.69702	CTG		0.622	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			C	76115385	G	C	76115385	3	2	474	1	0	0	0	0	1	0	0	0	15994	933	33	4	641	4	TMC6	17	76115385	Missense_Mutation	SNP	G	TCGA-BQ-7048-01A-11D-1961-08	1957308	76115385	5079825	45	25765											
LGI4	163175	hgsc.bcm.edu	37	19	35617832	35617832	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr19:35617832G>T	ENST00000310123.3	-	7	1237	c.718C>A	c.(718-720)Ccc>Acc	p.P240T	LGI4_ENST00000392225.3_Missense_Mutation_p.P240T|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	240					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCGGCGAAGGGCTGTGCCAGC	0.662																																																0													40	46	44					19																	35617832		2203	4300	6503	SO:0001583	missense	163175			AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.718C>A	chr19.hg19:g.35617832G>T	ENSP00000312273:p.Pro240Thr		B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	hg19	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222746	0.58668	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	D;D	0.81579	-1.51;-1.51	3.94	3.94	0.45596	.	0.000000	0.64402	D	0.000013	D	0.87245	0.6129	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88525	0.3099	10	0.72032	D	0.01	.	13.5039	0.61474	0.0:0.0:1.0:0.0	.	151;240	Q658V8;Q8N135	.;LGI4_HUMAN	T	240	ENSP00000312273:P240T;ENSP00000376059:P240T	ENSP00000312273:P240T	P	-	1	0	LGI4	40309672	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	7.564000	0.82326	2.025000	0.59659	0.313000	0.20887	CCC		0.662	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			T	35617832	G	T	35617832	3	4	474	1	0	0	0	0	1	0	0	0	8756	1203	42	4	907	4	LGI4	19	35617832	Missense_Mutation	SNP	G	TCGA-BQ-7048-01A-11D-1961-08		35617832	23511151	46	25766											
ZNF335	63925	hgsc.bcm.edu	37	20	44579218	44579218	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr20:44579218T>C	ENST00000322927.2	-	21	3306	c.3206A>G	c.(3205-3207)cAc>cGc	p.H1069R	ZNF335_ENST00000426788.1_Missense_Mutation_p.H914R	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1069					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TAGGCTTGAGTGCTGTGCCAT	0.592																																																0													126	137	133					20																	44579218		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3206A>G	chr20.hg19:g.44579218T>C	ENSP00000325326:p.His1069Arg		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	hg19	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613272	0.66672	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	D;D	0.88975	-2.45;-2.45	4.82	4.82	0.62117	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	H	0.99783	4.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.98479	1.0604	10	0.87932	D	0	-30.0634	14.0159	0.64523	0.0:0.0:0.0:1.0	.	914;1069	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	R	1069;846;914	ENSP00000325326:H1069R;ENSP00000397098:H914R	ENSP00000243961:H846R	H	-	2	0	ZNF335	44012625	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.442000	0.80503	2.166000	0.68216	0.460000	0.39030	CAC		0.592	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		C	44579218	T	C	44579218	3	2	474	1	0	0	0	0	1	0	0	0	17857	1696	59	3	854	3	ZNF335	20	44579218	Missense_Mutation	SNP	T	TCGA-BQ-7048-01A-11D-1961-08		44579218	18446302	47	25767											
ZBTB46	140685	hgsc.bcm.edu	37	20	62421455	62421455	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr20:62421455C>G	ENST00000245663.4	-	2	806	c.656G>C	c.(655-657)gGa>gCa	p.G219A	ZBTB46_ENST00000395104.1_Missense_Mutation_p.G219A|ZBTB46_ENST00000302995.2_Missense_Mutation_p.G219A|ZBTB46_ENST00000480766.1_5'Flank	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	219					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCCCACGTCTCCAGGCCATAG	0.602																																																0													65	61	62					20																	62421455		2203	4300	6503	SO:0001583	missense	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.656G>C	chr20.hg19:g.62421455C>G	ENSP00000245663:p.Gly219Ala		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	hg19	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642959	0.14451	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.08807	3.05;3.05;3.05	5.53	5.53	0.82687	.	0.168310	0.53938	D	0.000060	T	0.08846	0.0219	L	0.40543	1.245	0.26386	N	0.976659	B	0.12630	0.006	B	0.10450	0.005	T	0.34428	-0.9829	10	0.08837	T	0.75	.	18.4243	0.90604	0.0:1.0:0.0:0.0	.	219	Q86UZ6	ZBT46_HUMAN	A	219	ENSP00000245663:G219A;ENSP00000303102:G219A;ENSP00000378536:G219A	ENSP00000245663:G219A	G	-	2	0	ZBTB46	61891899	0.511000	0.26179	0.923000	0.36655	0.092000	0.18411	3.313000	0.51935	2.609000	0.88269	0.650000	0.86243	GGA		0.602	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		G	62421455	C	G	62421455	3	3	474	1	0	0	0	0	1	0	0	0	17552	855	30	4	1129	4	ZBTB46	20	62421455	Missense_Mutation	SNP	C	TCGA-BQ-7048-01A-11D-1961-08	17842237	62421455	604065	48	25768											
KRTAP27-1	643812	hgsc.bcm.edu	37	21	31709825	31709825	+	Silent	SNP	G	G	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr21:31709825G>A	ENST00000382835.2	-	1	187	c.162C>T	c.(160-162)tgC>tgT	p.C54C		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	54						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGGTTTCATTGCAGGTTTCTT	0.448																																																0													159	150	153					21																	31709825		2203	4300	6503	SO:0001819	synonymous_variant	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.162C>T	chr21.hg19:g.31709825G>A				Silent	SNP	ENST00000382835.2	hg19	CCDS33532.1																																																																																				0.448	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		A	31709825	G	A	31709825	2	1	474	1	0	0	0	0	0	0	0	1	8546	1311	46	2		2	KRTAP27-1	21	31709825	Silent	SNP	G	TCGA-BQ-7048-01A-11D-1961-08		31709825	16420070	49	25769											
SMARCB1	6598	hgsc.bcm.edu	37	22	24145544	24145544	+	Missense_Mutation	SNP	C	C	T	rs137986695		TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr22:24145544C>T	ENST00000263121.7	+	5	759	c.563C>T	c.(562-564)cCc>cTc	p.P188L	SMARCB1_ENST00000407422.3_Missense_Mutation_p.P179L|SMARCB1_ENST00000407082.3_Missense_Mutation_p.P142L|SMARCB1_ENST00000344921.6_Missense_Mutation_p.P197L	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	188	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(6)|p.P188L(1)|p.V185_M193del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GTGCTGGTCCCCATCCGGCTG	0.592			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	8	Unknown(3)|Deletion - Frameshift(3)|Substitution - Missense(1)|Deletion - In frame(1)	soft_tissue(5)|central_nervous_system(2)|skin(1)											114	103	107					22																	24145544		2203	4300	6503	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.563C>T	chr22.hg19:g.24145544C>T	ENSP00000263121:p.Pro188Leu		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	hg19	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321447	0.95682	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	M	0.92784	3.345	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.993;0.999	D;D;D;D	0.97110	0.982;1.0;0.983;0.997	D	0.99323	1.0907	10	0.72032	D	0.01	-25.3436	17.5295	0.87810	0.0:1.0:0.0:0.0	.	197;179;188;206	G5E975;Q17S11;Q12824;C9JTA6	.;.;SNF5_HUMAN;.	L	206;197;188;179;142	ENSP00000388489:P206L;ENSP00000340883:P197L;ENSP00000263121:P188L;ENSP00000383984:P179L;ENSP00000385226:P142L	ENSP00000263121:P188L	P	+	2	0	SMARCB1	22475544	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.810000	0.86072	2.472000	0.83506	0.644000	0.83932	CCC		0.592	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		T	24145544	C	T	24145544	3	4	474	1	0	0	0	0	1	0	0	0	14780	623	22	2	581	2	SMARCB1	22	24145544	Missense_Mutation	SNP	C	TCGA-BQ-7048-01A-11D-1961-08		24145544	27159022	50	25770											
MKL1	57591	hgsc.bcm.edu	37	22	40816560	40816562	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr22:40816560_40816562delCCC	ENST00000355630.3	-	11	1490_1492	c.900_902delGGG	c.(898-903)ctggga>cta	p.G301del	MKL1_ENST00000402042.1_In_Frame_Del_p.G251del|MKL1_ENST00000396617.3_In_Frame_Del_p.G301del|MKL1_ENST00000407029.1_In_Frame_Del_p.G301del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	301					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCCGCTGCTTCCCAGGGCCTCGC	0.665			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0																																										SO:0001651	inframe_deletion	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.900_902delGGG	chr22.hg19:g.40816560_40816562delCCC	ENSP00000347847:p.Gly301del		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	hg19	CCDS14003.1																																																																																				0.665	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		-	40816562	CCC	-	40816560	7	5	474	1	0	1	0	1	0	0	0	0	9603	855	30	0	1913	0	MKL1	22	40816560	In_Frame_Del	DEL	CCC	TCGA-BQ-7048-01A-11D-1961-08	16671016	40816560	10488006	51	25771											
MKI67IP	84365	hgsc.bcm.edu	37	2	122488590	122488590	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr2:122488590C>A	ENST00000285814.4	-	4	515	c.443G>T	c.(442-444)cGg>cTg	p.R148L	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		148					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CCGATTATACCGTTTCACTGA	0.343																																																0													107	103	105					2																	122488590		2203	4299	6502	SO:0001583	missense	84365																														ENST00000285814.4:c.443G>T	chr2.hg19:g.122488590C>A	ENSP00000285814:p.Arg148Leu		A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	hg19	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657638	0.67586	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000447132;ENST00000451734	T;T;T	0.54071	2.13;0.59;1.33	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.72894	2.215	0.80722	D	1	D;D	0.67145	0.996;0.994	P;P	0.61132	0.884;0.687	T	0.71823	-0.4476	10	0.87932	D	0	-11.903	15.2323	0.73401	0.0:1.0:0.0:0.0	.	148;148	B4DSM4;Q9BYG3	.;MK67I_HUMAN	L	148;148;43;116	ENSP00000285814:R148L;ENSP00000406227:R43L;ENSP00000398116:R116L	ENSP00000285814:R148L	R	-	2	0	MKI67IP	122205060	1.000000	0.71417	0.922000	0.36590	0.325000	0.28411	5.870000	0.69620	2.668000	0.90789	0.655000	0.94253	CGG		0.343	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			A	122488590	C	A	122488590	3	1	475	1	0	0	0	0	1	0	0	0	9601	652	23	4	454	4	MKI67IP	2	122488590	Missense_Mutation	SNP	C	TCGA-BQ-7049-01A-11D-1961-08		122488590	120710783	1	25772											
RFTN2	130132	hgsc.bcm.edu	37	2	198511301	198511301	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr2:198511301C>A	ENST00000295049.4	-	2	765	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	77					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGAATAGCCCCGACAATATAT	0.378																																																0													116	117	116					2																	198511301		2203	4300	6503	SO:0001583	missense	130132			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.229G>T	chr2.hg19:g.198511301C>A	ENSP00000295049:p.Gly77Trp		Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	hg19	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815785	0.70912	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.32753	1.44;1.44	5.39	4.5	0.54988	.	0.474569	0.23536	N	0.047134	T	0.47948	0.1473	L	0.51422	1.61	0.40875	D	0.983944	D	0.89917	1.0	D	0.87578	0.998	T	0.46911	-0.9157	10	0.87932	D	0	-13.4825	12.182	0.54218	0.0:0.9205:0.0:0.0795	.	77	Q52LD8	RFTN2_HUMAN	W	77	ENSP00000295049:G77W;ENSP00000398128:G77W	ENSP00000295049:G77W	G	-	1	0	RFTN2	198219546	0.387000	0.25188	0.999000	0.59377	0.943000	0.58893	2.256000	0.43231	2.687000	0.91594	0.585000	0.79938	GGG		0.378	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		A	198511301	C	A	198511301	3	1	475	1	0	0	0	0	1	0	0	0	13265	652	23	4	1308	4	RFTN2	2	198511301	Missense_Mutation	SNP	C	TCGA-BQ-7049-01A-11D-1961-08	76022711	198511301	44688072	2	25773											
SEPT2	4735	hgsc.bcm.edu	37	2	242277178	242277178	+	Silent	SNP	G	G	C			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr2:242277178G>C	ENST00000391973.2	+	7	1095	c.567G>C	c.(565-567)ctG>ctC	p.L189L	SEPT2_ENST00000360051.3_Silent_p.L189L|SEPT2_ENST00000402092.2_Silent_p.L189L|SEPT2_ENST00000391971.2_Silent_p.L189L|SEPT2_ENST00000407971.1_Silent_p.L149L|SEPT2_ENST00000401990.1_Silent_p.L199L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	189	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CTCTCACCCTGAAGGAACGGG	0.507																																																0													76	71	73					2																	242277178		2203	4300	6503	SO:0001819	synonymous_variant	4735			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"Septins"	7729	protein-coding gene	gene with protein product		601506	"neural precursor cell expressed, developmentally down-regulated 5"	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.567G>C	chr2.hg19:g.242277178G>C			B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Silent	SNP	ENST00000391973.2	hg19	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408628	0.25378	.	.	ENSG00000168385	ENST00000457874	.	.	.	5.23	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7547	0.62928	0.074:0.0:0.926:0.0	.	.	.	.	S	161	.	.	X	+	2	2	SEPT2	241925851	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.609000	0.54117	1.215000	0.43411	0.655000	0.94253	TGA		0.507	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		C	242277178	G	C	242277178	2	2	475	1	0	0	0	0	0	0	0	1	14070	1277	45	4		4	SEPT2	2	242277178	Silent	SNP	G	TCGA-BQ-7049-01A-11D-1961-08	43765877	242277178	922195	3	25774											
CCDC13	152206	hgsc.bcm.edu	37	3	42777251	42777251	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr3:42777251C>A	ENST00000310232.6	-	10	1402	c.1319G>T	c.(1318-1320)cGg>cTg	p.R440L	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	440										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTGGCCTCCCGCTCAGCTAC	0.602																																																0													119	104	109					3																	42777251		2203	4300	6503	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1319G>T	chr3.hg19:g.42777251C>A	ENSP00000309836:p.Arg440Leu			Missense_Mutation	SNP	ENST00000310232.6	hg19	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700694	0.68501	.	.	ENSG00000244607	ENST00000310232	T	0.27720	1.65	5.03	5.03	0.67393	.	0.085006	0.47852	D	0.000217	T	0.55353	0.1915	M	0.75447	2.3	0.38311	D	0.943263	D	0.89917	1.0	D	0.76071	0.987	T	0.57207	-0.7851	10	0.30078	T	0.28	.	17.144	0.86761	0.0:1.0:0.0:0.0	.	440	Q8IYE1	CCD13_HUMAN	L	440	ENSP00000309836:R440L	ENSP00000309836:R440L	R	-	2	0	CCDC13	42752255	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.131000	0.57970	2.345000	0.79718	0.511000	0.50034	CGG		0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		A	42777251	C	A	42777251	3	1	475	1	0	0	0	0	1	0	0	0	2767	652	23	4	856	4	CCDC13	3	42777251	Missense_Mutation	SNP	C	TCGA-BQ-7049-01A-11D-1961-08		42777251	155245179	4	25775											
KIAA1407	57577	hgsc.bcm.edu	37	3	113737705	113737705	+	Missense_Mutation	SNP	C	C	A	rs149867008	byFrequency	TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr3:113737705C>A	ENST00000295878.3	-	8	1129	c.983G>T	c.(982-984)cGg>cTg	p.R328L	KIAA1407_ENST00000545063.1_Missense_Mutation_p.R159L	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	328								p.R328L(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGCGAAATACCGTTTTTGACA	0.483																																																1	Substitution - Missense(1)	lung(1)											174	176	175					3																	113737705		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.983G>T	chr3.hg19:g.113737705C>A	ENSP00000295878:p.Arg328Leu		B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	hg19	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984892	0.74474	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.51574	1.35;0.73;0.7	5.76	4.78	0.61160	.	0.269718	0.36034	N	0.002833	T	0.59101	0.2169	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.99;0.999;0.995	P;D;P	0.70487	0.796;0.969;0.879	T	0.61501	-0.7050	10	0.62326	D	0.03	.	5.5084	0.16866	0.0:0.6308:0.2044:0.1648	.	315;204;328	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	L	328;159;315	ENSP00000295878:R328L;ENSP00000446381:R159L;ENSP00000418099:R315L	ENSP00000295878:R328L	R	-	2	0	KIAA1407	115220395	0.420000	0.25457	1.000000	0.80357	0.990000	0.78478	0.674000	0.25218	2.726000	0.93360	0.655000	0.94253	CGG		0.483	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		A	113737705	C	A	113737705	3	1	475	1	0	0	0	0	1	0	0	0	8231	652	23	4	1867	4	KIAA1407	3	113737705	Missense_Mutation	SNP	C	TCGA-BQ-7049-01A-11D-1961-08	70960454	113737705	84284725	5	25776											
AFAP1	60312	hgsc.bcm.edu	37	4	7840357	7840357	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr4:7840357G>T	ENST00000360265.4	-	5	854	c.620C>A	c.(619-621)cCg>cAg	p.P207Q	AFAP1_ENST00000358461.2_Missense_Mutation_p.P207Q|AFAP1_ENST00000420658.1_Missense_Mutation_p.P207Q|AFAP1_ENST00000382543.3_Missense_Mutation_p.P207Q			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	207	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCTGTCTTTCGGGATGTACGT	0.507																																																0													209	191	197					4																	7840357		2203	4300	6503	SO:0001583	missense	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.620C>A	chr4.hg19:g.7840357G>T	ENSP00000353402:p.Pro207Gln		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	hg19	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981112	0.74474	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.46	4.46	0.54185	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.056876	0.64402	D	0.000001	D	0.85852	0.5793	M	0.79123	2.44	0.58432	D	0.999998	D;D	0.69078	0.997;0.988	D;D	0.70016	0.967;0.963	D	0.87651	0.2528	10	0.59425	D	0.04	-44.5193	17.4002	0.87458	0.0:0.0:1.0:0.0	.	207;207	E9PDT7;Q8N556	.;AFAP1_HUMAN	Q	207	ENSP00000353402:P207Q;ENSP00000410689:P207Q;ENSP00000351245:P207Q;ENSP00000371983:P207Q	ENSP00000351245:P207Q	P	-	2	0	AFAP1	7891257	1.000000	0.71417	0.836000	0.33094	0.629000	0.37895	7.154000	0.77437	2.344000	0.79699	0.650000	0.86243	CCG		0.507	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		T	7840357	G	T	7840357	3	4	475	1	0	0	0	0	1	0	0	0	353	1116	39	4	1876	4	AFAP1	4	7840357	Missense_Mutation	SNP	G	TCGA-BQ-7049-01A-11D-1961-08		7840357	183313919	6	25777											
SDHA	6389	hgsc.bcm.edu	37	5	224586	224586	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr5:224586G>A	ENST00000264932.6	+	3	377	c.262G>A	c.(262-264)Gca>Aca	p.A88T	SDHA_ENST00000504309.1_Missense_Mutation_p.A88T|SDHA_ENST00000510361.1_Missense_Mutation_p.A88T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	88					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTTTAATACAGCATGTGTTAC	0.547									Familial Paragangliomas																																							0													111	110	110					5																	224586		2203	4300	6503	SO:0001583	missense	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.262G>A	chr5.hg19:g.224586G>A	ENSP00000264932:p.Ala88Thr		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	hg19	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	g	25.0	4.594697	0.86953	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.72282	-0.64;-0.64;-0.09	5.56	5.56	0.83823	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.84192	0.5418	M	0.75264	2.295	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.997;0.998	D	0.85385	0.1122	10	0.87932	D	0	.	17.4364	0.87553	0.0:0.0:1.0:0.0	.	88;88;88;88;94	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	T	88	ENSP00000264932:A88T;ENSP00000426514:A88T;ENSP00000427703:A88T	ENSP00000264932:A88T	A	+	1	0	SDHA	277586	1.000000	0.71417	0.200000	0.23457	0.418000	0.31294	9.385000	0.97223	2.794000	0.96219	0.539000	0.68188	GCA		0.547	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		A	224586	G	A	224586	3	1	475	1	0	0	0	0	1	0	0	0	13969	971	34	2	272	2	SDHA	5	224586	Missense_Mutation	SNP	G	TCGA-BQ-7049-01A-11D-1961-08		224586	180690674	7	25778											
ADAMTS12	81792	hgsc.bcm.edu	37	5	33596055	33596055	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr5:33596055T>G	ENST00000504830.1	-	17	2973	c.2638A>C	c.(2638-2640)Aag>Cag	p.K880Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K795Q|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	880	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGACAAGCCTTTTCATGGCAC	0.507										HNSCC(64;0.19)																																						0													225	189	201					5																	33596055		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2638A>C	chr5.hg19:g.33596055T>G	ENSP00000422554:p.Lys880Gln		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	hg19	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.571445	0.28003	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.52526	0.66;0.66	5.77	3.29	0.37713	.	0.320980	0.41500	N	0.000878	T	0.20861	0.0502	N	0.03891	-0.335	0.80722	D	1	B;B	0.15473	0.013;0.001	B;B	0.13407	0.007;0.009	T	0.04178	-1.0971	10	0.15066	T	0.55	.	8.4354	0.32784	0.0:0.0654:0.3833:0.5514	.	795;880	P58397-3;P58397	.;ATS12_HUMAN	Q	880;795	ENSP00000422554:K880Q;ENSP00000344847:K795Q	ENSP00000344847:K795Q	K	-	1	0	ADAMTS12	33631812	0.975000	0.34042	1.000000	0.80357	0.993000	0.82548	0.949000	0.29109	0.494000	0.27859	0.477000	0.44152	AAG		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		G	33596055	T	G	33596055	3	3	475	1	0	0	0	0	1	0	0	0	257	1850	64	5	2178	5	ADAMTS12	5	33596055	Missense_Mutation	SNP	T	TCGA-BQ-7049-01A-11D-1961-08	33371469	33596055	147319205	8	25779											
DBN1	1627	hgsc.bcm.edu	37	5	176895199	176895199	+	Silent	SNP	C	C	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr5:176895199C>A	ENST00000309007.5	-	3	384	c.165G>T	c.(163-165)tcG>tcT	p.S55S	DBN1_ENST00000292385.5_Silent_p.S57S|DBN1_ENST00000393565.1_Silent_p.S55S	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	55	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.S55S(1)|p.S57S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAAGTGTCCCGAAAGCTCCT	0.522																																																2	Substitution - coding silent(2)	kidney(2)											153	158	156					5																	176895199		2203	4300	6503	SO:0001819	synonymous_variant	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.165G>T	chr5.hg19:g.176895199C>A			A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	hg19	CCDS4420.1																																																																																				0.522	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		A	176895199	C	A	176895199	2	1	475	1	0	0	0	0	0	0	0	1	4254	639	23	4		4	DBN1	5	176895199	Silent	SNP	C	TCGA-BQ-7049-01A-11D-1961-08	143299144	176895199	4020061	9	25780											
HIST1H2BC	8347	hgsc.bcm.edu	37	6	26123936	26123936	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr6:26123936A>C	ENST00000314332.5	-	1	202	c.197T>G	c.(196-198)tTc>tGc	p.F66C	HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.F66C|HIST1H2AC_ENST00000602637.1_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	66					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GTCGTTAACGAAAGAATTCAT	0.557																																																0													157	149	151					6																	26123936		2203	4300	6503	SO:0001583	missense	8347			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.197T>G	chr6.hg19:g.26123936A>C	ENSP00000321744:p.Phe66Cys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	hg19	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.033354	0.75504	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.27557	1.66;1.66	5.61	5.61	0.85477	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.40932	0.1137	.	.	.	0.41896	D	0.990396	P	0.47253	0.892	P	0.55749	0.783	T	0.38457	-0.9660	8	0.72032	D	0.01	.	15.2833	0.73806	1.0:0.0:0.0:0.0	.	66	P62807	H2B1C_HUMAN	C	66	ENSP00000321744:F66C;ENSP00000380180:F66C	ENSP00000321744:F66C	F	-	2	0	HIST1H2BC	26231915	1.000000	0.71417	0.998000	0.56505	0.277000	0.26821	9.051000	0.93849	2.259000	0.74868	0.528000	0.53228	TTC		0.557	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		C	26123936	A	C	26123936	3	2	475	1	0	0	0	0	1	0	0	0	7144	246	9	5	187	5	HIST1H2BC	6	26123936	Missense_Mutation	SNP	A	TCGA-BQ-7049-01A-11D-1961-08		26123936	144991131	10	25781											
SYNJ2	8871	hgsc.bcm.edu	37	6	158516906	158516906	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr6:158516906C>A	ENST00000355585.4	+	27	4076	c.4001C>A	c.(4000-4002)cCg>cAg	p.P1334Q	SYNJ2_ENST00000367112.1_Missense_Mutation_p.P419Q|SYNJ2_ENST00000367122.2_Missense_Mutation_p.P1289Q	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1334	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1334L(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AAGGTACCCCCGAGGAGGAAG	0.642																																																1	Substitution - Missense(1)	ovary(1)											37	45	42					6																	158516906		2203	4300	6503	SO:0001583	missense	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.4001C>A	chr6.hg19:g.158516906C>A	ENSP00000347792:p.Pro1334Gln		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	hg19	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178918	0.57692	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.96104	-3.78;-3.91;-0.54	5.79	4.92	0.64577	.	0.093328	0.47852	D	0.000213	D	0.95598	0.8569	L	0.59436	1.845	0.44908	D	0.997928	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.88909	0.3358	10	0.87932	D	0	.	14.599	0.68427	0.0:0.9306:0.0:0.0694	.	729;1334	B4DLC4;O15056	.;SYNJ2_HUMAN	Q	1289;1334;419	ENSP00000356089:P1289Q;ENSP00000347792:P1334Q;ENSP00000356079:P419Q	ENSP00000347792:P1334Q	P	+	2	0	SYNJ2	158436894	0.985000	0.35326	0.029000	0.17559	0.304000	0.27724	4.827000	0.62723	-2.585000	0.00460	-0.781000	0.03364	CCG		0.642	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			A	158516906	C	A	158516906	3	1	475	1	0	0	0	0	1	0	0	0	15458	652	23	4	4107	4	SYNJ2	6	158516906	Missense_Mutation	SNP	C	TCGA-BQ-7049-01A-11D-1961-08	132392970	158516906	12598161	11	25782											
ELN	2006	hgsc.bcm.edu	37	7	73474352	73474352	+	Silent	SNP	C	C	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr7:73474352C>A	ENST00000252034.7	+	23	1950	c.1551C>A	c.(1549-1551)ccC>ccA	p.P517P	ELN_ENST00000380553.4_Silent_p.P381P|ELN_ENST00000380575.4_Silent_p.P488P|ELN_ENST00000458204.1_Silent_p.P507P|ELN_ENST00000380562.4_Silent_p.P523P|ELN_ENST00000357036.5_Silent_p.P522P|ELN_ENST00000320492.7_Silent_p.P436P|ELN_ENST00000380584.4_Silent_p.P484P|ELN_ENST00000380576.5_Silent_p.P498P|ELN_ENST00000429192.1_Silent_p.P503P|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000320399.6_Silent_p.P517P|ELN_ENST00000414324.1_Silent_p.P493P|ELN_ENST00000445912.1_Silent_p.P517P|ELN_ENST00000358929.4_Silent_p.P552P	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GCGTGGCTCCCGGCATTGGCC	0.647			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																Dom	yes		7	7q11.23	2006	elastin	yes	L	0													109	104	105					7																	73474352		2203	4300	6503	SO:0001819	synonymous_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1551C>A	chr7.hg19:g.73474352C>A			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	hg19	CCDS5562.2																																																																																				0.647	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		A	73474352	C	A	73474352	2	1	475	1	0	0	0	0	0	0	0	1	5073	639	23	4		4	ELN	7	73474352	Silent	SNP	C	TCGA-BQ-7049-01A-11D-1961-08		73474352	85664311	12	25783											
ELAVL2	1993	hgsc.bcm.edu	37	9	23762205	23762205	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr9:23762205T>C	ENST00000397312.2	-	2	302	c.28A>G	c.(28-30)Act>Gct	p.T10A	ELAVL2_ENST00000380110.4_Missense_Mutation_p.T39A|ELAVL2_ENST00000223951.6_Missense_Mutation_p.T10A|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000380117.1_Missense_Mutation_p.T10A|ELAVL2_ENST00000544538.1_Missense_Mutation_p.T10A	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	10					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TTATTGCAAGTTGGCCCATTA	0.403																																																0													296	273	281					9																	23762205		2203	4299	6502	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.28A>G	chr9.hg19:g.23762205T>C	ENSP00000380479:p.Thr10Ala		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	hg19	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.662813	0.29515	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.13196	2.61;3.01;3.01;3.01;2.92	5.92	5.92	0.95590	.	0.225320	0.44688	D	0.000426	T	0.07728	0.0194	N	0.04508	-0.205	0.50039	D	0.999841	B;B	0.02656	0.0;0.0	B;B	0.12156	0.001;0.007	T	0.38112	-0.9676	10	0.19147	T	0.46	.	16.371	0.83361	0.0:0.0:0.0:1.0	.	10;10	Q12926;Q12926-2	ELAV2_HUMAN;.	A	10;10;10;10;10;38;10	ENSP00000223951:T10A;ENSP00000380479:T10A;ENSP00000440998:T10A;ENSP00000369460:T10A;ENSP00000412602:T10A	ENSP00000223951:T10A	T	-	1	0	ELAVL2	23752205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.014000	0.64029	2.267000	0.75376	0.477000	0.44152	ACT		0.403	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		C	23762205	T	C	23762205	3	2	475	1	0	0	0	0	1	0	0	0	5052	1725	60	3	1075	3	ELAVL2	9	23762205	Missense_Mutation	SNP	T	TCGA-BQ-7049-01A-11D-1961-08		23762205	117451226	13	25784											
ZNF618	114991	hgsc.bcm.edu	37	9	116812343	116812343	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr9:116812343G>T	ENST00000374126.5	+	15	2860	c.2761G>T	c.(2761-2763)Ggg>Tgg	p.G921W	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.G828W			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	921					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGCCAGAAGCGGGTGTGTAAA	0.512																																																0													56	62	60					9																	116812343		1833	4080	5913	SO:0001583	missense	114991			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2761G>T	chr9.hg19:g.116812343G>T	ENSP00000363241:p.Gly921Trp		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	hg19		.	.	.	.	.	.	.	.	.	.	G	20.8	4.056794	0.76074	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21734	1.99;1.99	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.099558	0.64402	D	0.000002	T	0.46308	0.1386	.	.	.	0.52501	D	0.999958	P;D;D	0.62365	0.953;0.981;0.991	P;P;P	0.59424	0.739;0.652;0.857	T	0.38499	-0.9658	9	0.87932	D	0	-36.171	19.3319	0.94293	0.0:0.0:1.0:0.0	.	888;921;828	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	W	921;828	ENSP00000363241:G921W;ENSP00000288466:G828W	ENSP00000288466:G828W	G	+	1	0	ZNF618	115852164	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.265000	0.78442	2.815000	0.96918	0.561000	0.74099	GGG		0.512	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		T	116812343	G	T	116812343	3	4	475	1	0	0	0	0	1	0	0	0	18047	1116	39	4	2536	4	ZNF618	9	116812343	Missense_Mutation	SNP	G	TCGA-BQ-7049-01A-11D-1961-08	93050138	116812343	24401088	14	25785											
PDCD11	22984	hgsc.bcm.edu	37	10	105202030	105202030	+	Missense_Mutation	SNP	C	C	A	rs576894256		TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr10:105202030C>A	ENST00000369797.3	+	32	4862	c.4768C>A	c.(4768-4770)Cgc>Agc	p.R1590S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1590					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGAACTGTCCCGCATTGAGGA	0.537																																																0													107	109	109					10																	105202030		2203	4300	6503	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4768C>A	chr10.hg19:g.105202030C>A	ENSP00000358812:p.Arg1590Ser		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	hg19	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002691	0.74932	.	.	ENSG00000148843	ENST00000369797	T	0.40756	1.02	5.27	5.27	0.74061	.	0.110569	0.64402	D	0.000014	T	0.41396	0.1157	N	0.25485	0.75	0.40880	D	0.983985	D	0.60160	0.987	P	0.55577	0.779	T	0.10382	-1.0632	10	0.20519	T	0.43	-15.7903	12.4343	0.55590	0.2802:0.7198:0.0:0.0	.	1590	Q14690	RRP5_HUMAN	S	1590	ENSP00000358812:R1590S	ENSP00000358812:R1590S	R	+	1	0	PDCD11	105192020	0.998000	0.40836	1.000000	0.80357	0.849000	0.48306	2.898000	0.48672	2.619000	0.88677	0.561000	0.74099	CGC		0.537	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			A	105202030	C	A	105202030	3	1	475	1	0	0	0	0	1	0	0	0	11619	652	23	4	4890	4	PDCD11	10	105202030	Missense_Mutation	SNP	C	TCGA-BQ-7049-01A-11D-1961-08		105202030	30332717	15	25786											
NLRX1	79671	hgsc.bcm.edu	37	11	119051968	119051968	+	Splice_Site	SNP	T	T	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr11:119051968T>A	ENST00000409109.1	+	8	2941		c.e8+2		NLRX1_ENST00000292199.2_Splice_Site|NLRX1_ENST00000409991.1_Splice_Site|NLRX1_ENST00000409265.4_Splice_Site|NLRX1_ENST00000525863.1_Splice_Site	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1						innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CACACTGCGGTGAGTGACCTG	0.582																																																0													85	68	74					11																	119051968		2200	4295	6495	SO:0001630	splice_region_variant	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2354+2T>A	chr11.hg19:g.119051968T>A			A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Splice_Site	SNP	ENST00000409109.1	hg19	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.200656	0.79015	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9739	0.58527	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRX1	118557178	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.819000	0.69243	2.246000	0.74042	0.533000	0.62120	.		0.582	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	Intron	A	119051968	T	A	119051968	5	1	475	1	0	0	0	0	0	0	1	0	10487	1710	59	5	2382	5	NLRX1	11	119051968	Splice_Site	SNP	T	TCGA-BQ-7049-01A-11D-1961-08		119051968	15954548	16	25787											
UTP20	27340	hgsc.bcm.edu	37	12	101693787	101693787	+	Silent	SNP	C	C	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr12:101693787C>A	ENST00000261637.4	+	14	1797	c.1623C>A	c.(1621-1623)acC>acA	p.T541T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	541					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)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CACTCGTCACCGGCTTCATAG	0.438																																																0													207	200	203					12																	101693787		2203	4300	6503	SO:0001819	synonymous_variant	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1623C>A	chr12.hg19:g.101693787C>A			Q9H3H4	Silent	SNP	ENST00000261637.4	hg19	CCDS9081.1																																																																																				0.438	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		A	101693787	C	A	101693787	2	1	475	1	0	0	0	0	0	0	0	1	17104	639	23	4		4	UTP20	12	101693787	Silent	SNP	C	TCGA-BQ-7049-01A-11D-1961-08		101693787	32158108	17	25788											
TSC2	7249	hgsc.bcm.edu	37	16	2129191	2129191	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr16:2129191C>A	ENST00000219476.3	+	27	3755	c.3125C>A	c.(3124-3126)cCg>cAg	p.P1042Q	TSC2_ENST00000568454.1_Missense_Mutation_p.P1009Q|TSC2_ENST00000382538.6_Missense_Mutation_p.P950Q|TSC2_ENST00000439673.2_Missense_Mutation_p.P962Q|TSC2_ENST00000353929.4_Missense_Mutation_p.P999Q|TSC2_ENST00000350773.4_Missense_Mutation_p.P1042Q|TSC2_ENST00000401874.2_Missense_Mutation_p.P998Q|TSC2_ENST00000568366.1_3'UTR	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1042					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACGGCTGTCCCGAAGAGGTCC	0.617			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													84	71	75					16																	2129191		2198	4300	6498	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3125C>A	chr16.hg19:g.2129191C>A	ENSP00000219476:p.Pro1042Gln		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576568	0.65878	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.93076	-3.16;-3.02;-3.03;-3.03;-3.08	4.97	4.97	0.65823	.	0.125602	0.53938	D	0.000046	D	0.96531	0.8868	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.989;0.979;0.993;0.993;1.0;0.997	D	0.97151	0.9831	10	0.87932	D	0	-37.0385	18.23	0.89931	0.0:1.0:0.0:0.0	.	950;962;1042;998;998;1042	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	Q	1042;999;999;962;950;1042	ENSP00000219476:P1042Q;ENSP00000248099:P999Q;ENSP00000399232:P962Q;ENSP00000371978:P950Q;ENSP00000344383:P1042Q	ENSP00000219476:P1042Q	P	+	2	0	TSC2	2069192	1.000000	0.71417	0.992000	0.48379	0.052000	0.14988	7.755000	0.85180	2.306000	0.77630	0.655000	0.94253	CCG		0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		A	2129191	C	A	2129191	3	1	475	1	0	0	0	0	1	0	0	0	16611	652	23	4	3227	4	TSC2	16	2129191	Missense_Mutation	SNP	C	TCGA-BQ-7049-01A-11D-1961-08		2129191	88225562	18	25789											
CDR2	1039	hgsc.bcm.edu	37	16	22360668	22360668	+	Silent	SNP	C	C	A	rs374733638		TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr16:22360668C>A	ENST00000268383.2	-	4	745	c.438G>T	c.(436-438)ccG>ccT	p.P146P		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	146						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CACACTTTCCCGGGCTCCTTC	0.537																																																0													112	113	113					16																	22360668		2197	4300	6497	SO:0001819	synonymous_variant	1039			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.438G>T	chr16.hg19:g.22360668C>A			A8K8A8|Q13977	Silent	SNP	ENST00000268383.2	hg19	CCDS32404.1																																																																																				0.537	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			A	22360668	C	A	22360668	2	1	475	1	0	0	0	0	0	0	0	1	3174	639	23	4		4	CDR2	16	22360668	Silent	SNP	C	TCGA-BQ-7049-01A-11D-1961-08	20231477	22360668	67994085	19	25790											
ZNF404	342908	hgsc.bcm.edu	37	19	44378055	44378055	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr19:44378055A>G	ENST00000587539.1	-	3	310	c.311T>C	c.(310-312)gTg>gCg	p.V104A	ZNF404_ENST00000324394.6_Missense_Mutation_p.V102A	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAAACATCCCACTTTAGGTCT	0.333																																																0													137	146	143					19																	44378055		1838	4087	5925	SO:0001583	missense	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.311T>C	chr19.hg19:g.44378055A>G	ENSP00000466051:p.Val104Ala		A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	hg19	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.730337	0.00089	.	.	ENSG00000176222	ENST00000324394	T	0.06142	3.34	2.99	0.516	0.17019	.	.	.	.	.	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.45116	-0.9283	9	0.27082	T	0.32	.	7.3893	0.26901	0.6601:0.0:0.0:0.3399	.	104	Q494X3	ZN404_HUMAN	A	102	ENSP00000319479:V102A	ENSP00000319479:V102A	V	-	2	0	ZNF404	49069895	0.355000	0.24921	0.001000	0.08648	0.012000	0.07955	1.127000	0.31357	0.341000	0.23771	-0.898000	0.02899	GTG		0.333	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		G	44378055	A	G	44378055	3	3	475	1	0	0	0	0	1	0	0	0	17891	159	6	3	1351	3	ZNF404	19	44378055	Missense_Mutation	SNP	A	TCGA-BQ-7049-01A-11D-1961-08		44378055	14750928	20	25791											
C19orf63	284361	hgsc.bcm.edu	37	19	50981244	50981244	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr19:50981244A>G	ENST00000334976.6	+	2	219	c.173A>G	c.(172-174)cAc>cGc	p.H58R	EMC10_ENST00000598585.1_Missense_Mutation_p.H58R|FAM71E1_ENST00000600100.1_5'Flank|CTD-2545M3.2_ENST00000598194.1_RNA|FAM71E1_ENST00000595790.1_5'Flank|EMC10_ENST00000376918.3_Missense_Mutation_p.H58R	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	58						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											CTGCTGGAGCACTCATTTGAG	0.607																																																0													115	107	110					19																	50981244		2203	4300	6503	SO:0001583	missense	284361			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"hematopoietic signal peptide-containing secreted 1", "hematopoietic signal peptide-containing membrane domain-containing 1"	614545	"chromosome 19 open reading frame 63"	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.173A>G	chr19.hg19:g.50981244A>G	ENSP00000334037:p.His58Arg		Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	ENST00000334976.6	hg19	CCDS12796.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991013	0.74703	.	.	ENSG00000161671	ENST00000334976;ENST00000376918;ENST00000376920	.	.	.	4.4	4.4	0.53042	.	0.108519	0.64402	D	0.000008	T	0.75788	0.3897	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.999	D;D;D	0.75020	0.984;0.985;0.961	T	0.78797	-0.2063	9	0.87932	D	0	-17.5433	11.7796	0.52006	1.0:0.0:0.0:0.0	.	58;58;58	Q5UCC4;Q5UCC4-2;Q5UCC4-3	INM02_HUMAN;.;.	R	58	.	ENSP00000334037:H58R	H	+	2	0	C19orf63	55673056	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.415000	0.66411	1.909000	0.55274	0.402000	0.26972	CAC		0.607	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		G	50981244	A	G	50981244	3	3	475	1	0	0	0	0	1	0	0	0	1947	159	6	3	179	3	C19orf63	19	50981244	Missense_Mutation	SNP	A	TCGA-BQ-7049-01A-11D-1961-08	6603189	50981244	8147739	21	25792											
ZNF761	388561	hgsc.bcm.edu	37	19	53959648	53959648	+	RNA	SNP	C	C	A	rs373072898		TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr19:53959648C>A	ENST00000454407.1	+	0	2340							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GACTTCATACCGGAGAGAAAC	0.408																																																0													112	116	115					19																	53959648		2202	4300	6502			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		chr19.hg19:g.53959648C>A			Q6ZNB9	Silent	SNP	ENST00000454407.1	hg19																																																																																					0.408	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		A	53959648	C	A	53959648	1	1	475	0	1	0	0	0	0	0	0	0	18141	639	23	4		4	ZNF761	19	53959648	RNA	SNP	C	TCGA-BQ-7049-01A-11D-1961-08	2978404	53959648	5169335	22	25793											
TM9SF4	9777	hgsc.bcm.edu	37	20	30723909	30723909	+	Silent	SNP	A	A	G			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr20:30723909A>G	ENST00000398022.2	+	3	397	c.162A>G	c.(160-162)ctA>ctG	p.L54L	TM9SF4_ENST00000217315.5_Silent_p.L37L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	54						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAACCCAGCTACCTTATGAAT	0.483																																																0													120	99	106					20																	30723909		2203	4300	6503	SO:0001819	synonymous_variant	9777			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.162A>G	chr20.hg19:g.30723909A>G			B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	hg19	CCDS13196.2																																																																																				0.483	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		G	30723909	A	G	30723909	2	3	475	1	0	0	0	0	0	0	0	1	15985	378	14	3		3	TM9SF4	20	30723909	Silent	SNP	A	TCGA-BQ-7049-01A-11D-1961-08		30723909	32301611	23	25794											
IFT52	51098	hgsc.bcm.edu	37	20	42265804	42265804	+	Missense_Mutation	SNP	G	G	T	rs145627647	byFrequency	TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr20:42265804G>T	ENST00000373030.3	+	12	1161	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	IFT52_ENST00000373039.4_Missense_Mutation_p.R344L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	344					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCAGTTTCCGGGAGTTACCA	0.418																																																0													83	83	83					20																	42265804		2203	4300	6503	SO:0001583	missense	51098			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1031G>T	chr20.hg19:g.42265804G>T	ENSP00000362121:p.Arg344Leu		B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	hg19	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203933	0.79127	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.27	5.27	0.74061	.	0.048064	0.85682	D	0.000000	T	0.66954	0.2842	M	0.84683	2.71	0.80722	D	1	P	0.43094	0.799	B	0.37198	0.243	T	0.74618	-0.3605	9	0.52906	T	0.07	-17.1501	18.0301	0.89281	0.0:0.0:1.0:0.0	.	344	Q9Y366	IFT52_HUMAN	L	344	.	ENSP00000362121:R344L	R	+	2	0	IFT52	41699218	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.421000	0.73353	2.628000	0.89032	0.655000	0.94253	CGG		0.418	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		T	42265804	G	T	42265804	3	4	475	1	0	0	0	0	1	0	0	0	7563	1116	39	4	1073	4	IFT52	20	42265804	Missense_Mutation	SNP	G	TCGA-BQ-7049-01A-11D-1961-08	11541895	42265804	20759716	24	25795											
MYH9	4627	hgsc.bcm.edu	37	22	36714304	36714304	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7049-01A-11D-1961-08	TCGA-BQ-7049-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	91478a08-9bea-426b-bd0c-ca7cc87297b1	fd0fcf99-b8da-43e8-9ccb-9c792ac32047	g.chr22:36714304G>T	ENST00000216181.5	-	11	1405	c.1175C>A	c.(1174-1176)cCg>cAg	p.P392Q	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	392	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTTGATGCGCGGGGTGAGGAT	0.532			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													203	197	199					22																	36714304		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1175C>A	chr22.hg19:g.36714304G>T	ENSP00000216181:p.Pro392Gln		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	hg19	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032337	0.93575	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.87729	-2.29	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94791	0.8318	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95721	0.8766	10	0.87932	D	0	.	18.2503	0.90000	0.0:0.0:1.0:0.0	.	392	P35579	MYH9_HUMAN	Q	256;392	ENSP00000216181:P392Q	ENSP00000216181:P392Q	P	-	2	0	MYH9	35044250	1.000000	0.71417	0.979000	0.43373	0.987000	0.75469	9.813000	0.99286	2.475000	0.83589	0.650000	0.86243	CCG		0.532	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		T	36714304	G	T	36714304	3	4	475	1	0	0	0	0	1	0	0	0	10044	1116	39	4	4831	4	MYH9	22	36714304	Missense_Mutation	SNP	G	TCGA-BQ-7049-01A-11D-1961-08		36714304	14590262	25	25796											
ASH1L	55870	hgsc.bcm.edu	37	1	155317614	155317614	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr1:155317614A>G	ENST00000368346.3	-	20	8290	c.7651T>C	c.(7651-7653)Tca>Cca	p.S2551P	ASH1L_ENST00000392403.3_Missense_Mutation_p.S2546P|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2551					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATCTGGGCTGATGCCTCATGC	0.488																																																0													197	160	173					1																	155317614		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7651T>C	chr1.hg19:g.155317614A>G	ENSP00000357330:p.Ser2551Pro		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	hg19		.	.	.	.	.	.	.	.	.	.	A	17.35	3.367145	0.61513	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.16743	2.32;2.32	5.4	5.4	0.78164	Bromodomain (3);	0.058282	0.64402	D	0.000002	T	0.07007	0.0178	N	0.08118	0	0.80722	D	1	P;P	0.50272	0.89;0.933	B;P	0.49752	0.417;0.621	T	0.21177	-1.0253	10	0.45353	T	0.12	.	10.9753	0.47463	0.7253:0.2747:0.0:0.0	.	2551;2546	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	P	2551;2546	ENSP00000357330:S2551P;ENSP00000376204:S2546P	ENSP00000357330:S2551P	S	-	1	0	ASH1L	153584238	0.923000	0.31300	1.000000	0.80357	0.998000	0.95712	2.017000	0.40981	2.266000	0.75297	0.533000	0.62120	TCA		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		G	155317614	A	G	155317614	3	3	476	1	0	0	0	0	1	0	0	0	1041	333	12	3	1294	3	ASH1L	1	155317614	Missense_Mutation	SNP	A	TCGA-BQ-7050-01A-11D-1961-08		155317614	93933007	1	25797											
ATP1B1	481	hgsc.bcm.edu	37	1	169076130	169076130	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr1:169076130delG	ENST00000367816.1	+	2	592	c.63delG	c.(61-63)aagfs	p.K22fs	RP5-1018K9.1_ENST00000415637.1_RNA|ATP1B1_ENST00000367815.4_Frame_Shift_Del_p.K22fs|ATP1B1_ENST00000499679.3_5'Flank			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	22					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					ACTCAGAGAAGAAGGAGTTTC	0.657																																																0													51	57	55					1																	169076130		2203	4300	6503	SO:0001589	frameshift_variant	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.63delG	chr1.hg19:g.169076130delG	ENSP00000356790:p.Lys22fs		Q5TGZ3	Frame_Shift_Del	DEL	ENST00000367816.1	hg19	CCDS1276.1																																																																																				0.657	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			-	169076130	G	-	169076130	7	5	476	1	0	1	0	1	0	0	0	0	1132	933	33	0	65	0	ATP1B1	1	169076130	Frame_Shift_Del	DEL	G	TCGA-BQ-7050-01A-11D-1961-08	13758516	169076130	80174491	2	25798											
NEK7	140609	hgsc.bcm.edu	37	1	198231718	198231718	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr1:198231718T>G	ENST00000367385.4	+	4	554	c.212T>G	c.(211-213)aTg>aGg	p.M71R	NEK7_ENST00000538004.1_Missense_Mutation_p.M71R	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	71	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TTTGATTTAATGGATGCCAAA	0.289																																																0													125	134	131					1																	198231718		2203	4292	6495	SO:0001583	missense	140609			AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"NIMA (never in mitosis gene a)-related kinase 7"			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.212T>G	chr1.hg19:g.198231718T>G	ENSP00000356355:p.Met71Arg		A6NGT8	Missense_Mutation	SNP	ENST00000367385.4	hg19	CCDS1394.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394506	0.83011	.	.	ENSG00000151414	ENST00000367385;ENST00000538004;ENST00000391974	T;T;T	0.63913	-0.07;-0.07;3.21	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	L	0.28192	0.835	0.80722	D	1	D	0.57257	0.979	D	0.65573	0.936	T	0.71751	-0.4498	10	0.66056	D	0.02	.	15.4982	0.75673	0.0:0.0:0.0:1.0	.	71	Q8TDX7	NEK7_HUMAN	R	71	ENSP00000356355:M71R;ENSP00000444621:M71R;ENSP00000375835:M71R	ENSP00000356355:M71R	M	+	2	0	NEK7	196498341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.506000	0.81665	2.198000	0.70561	0.528000	0.53228	ATG		0.289	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494		G	198231718	T	G	198231718	3	3	476	1	0	0	0	0	1	0	0	0	10331	1464	51	5	222	5	NEK7	1	198231718	Missense_Mutation	SNP	T	TCGA-BQ-7050-01A-11D-1961-08	29155588	198231718	51018903	3	25799											
LRRC3B	116135	hgsc.bcm.edu	37	3	26751861	26751861	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr3:26751861G>T	ENST00000396641.2	+	2	1290	c.698G>T	c.(697-699)cGg>cTg	p.R233L	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.R233L|LRRC3B_ENST00000417744.1_Missense_Mutation_p.R233L	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	233						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAGGATGCCCGGAGACACCTC	0.448																																																0													78	76	76					3																	26751861		2203	4300	6503	SO:0001583	missense	116135			AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.698G>T	chr3.hg19:g.26751861G>T	ENSP00000379880:p.Arg233Leu		Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	hg19	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309657	0.81247	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	T;T;T	0.64803	-0.12;-0.12;-0.12	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.80641	-0.1292	10	0.87932	D	0	-10.319	19.2859	0.94069	0.0:0.0:1.0:0.0	.	233	Q96PB8	LRC3B_HUMAN	L	233	ENSP00000379880:R233L;ENSP00000406370:R233L;ENSP00000394940:R233L	ENSP00000379880:R233L	R	+	2	0	LRRC3B	26726865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	CGG		0.448	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		T	26751861	G	T	26751861	3	4	476	1	0	0	0	0	1	0	0	0	8998	1116	39	4	700	4	LRRC3B	3	26751861	Missense_Mutation	SNP	G	TCGA-BQ-7050-01A-11D-1961-08		26751861	171270569	4	25800											
DNAJC13	23317	hgsc.bcm.edu	37	3	132184844	132184844	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr3:132184844T>C	ENST00000260818.6	+	18	2146	c.1898T>C	c.(1897-1899)cTa>cCa	p.L633P	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	633					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTCAGACAGCTAAGTAGACAT	0.338																																																0													72	70	70					3																	132184844		2203	4300	6503	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1898T>C	chr3.hg19:g.132184844T>C	ENSP00000260818:p.Leu633Pro		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	hg19	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419736	0.83559	.	.	ENSG00000138246	ENST00000260818	T	0.34859	1.34	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.64402	D	0.000007	T	0.64159	0.2573	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	T	0.70226	-0.4930	10	0.87932	D	0	.	15.6649	0.77221	0.0:0.0:0.0:1.0	.	633;633	A7E2Y5;O75165	.;DJC13_HUMAN	P	633	ENSP00000260818:L633P	ENSP00000260818:L633P	L	+	2	0	DNAJC13	133667534	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.813000	0.86123	2.103000	0.63969	0.528000	0.53228	CTA		0.338	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		C	132184844	T	C	132184844	3	2	476	1	0	0	0	0	1	0	0	0	4634	1522	53	3	1964	3	DNAJC13	3	132184844	Missense_Mutation	SNP	T	TCGA-BQ-7050-01A-11D-1961-08	105432983	132184844	65837586	5	25801											
XRN1	54464	hgsc.bcm.edu	37	3	142141468	142141468	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr3:142141468G>C	ENST00000264951.4	-	8	1040	c.923C>G	c.(922-924)cCt>cGt	p.P308R	XRN1_ENST00000392981.2_Missense_Mutation_p.P308R|XRN1_ENST00000463916.1_Missense_Mutation_p.P308R|RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000544157.1_Missense_Mutation_p.P98R	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	308					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATAAAGAAGAGGCAGTGCATC	0.358																																																0													84	86	85					3																	142141468		2203	4298	6501	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.923C>G	chr3.hg19:g.142141468G>C	ENSP00000264951:p.Pro308Arg		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	hg19	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716498	0.89205	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	T;T	0.30448	1.53;1.53	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.997;0.997;0.994	D;D;P;D;D	0.87578	0.998;0.998;0.887;0.984;0.963	T	0.68659	-0.5350	10	0.59425	D	0.04	-9.0623	19.3082	0.94173	0.0:0.0:1.0:0.0	.	98;308;169;308;308	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	R	308;308;308;98	ENSP00000264951:P308R;ENSP00000376707:P308R	ENSP00000264951:P308R	P	-	2	0	XRN1	143624158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.363000	0.97131	2.572000	0.86782	0.650000	0.86243	CCT		0.358	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		C	142141468	G	C	142141468	3	2	476	1	0	0	0	0	1	0	0	0	17464	1000	35	4	4337	4	XRN1	3	142141468	Missense_Mutation	SNP	G	TCGA-BQ-7050-01A-11D-1961-08	9956624	142141468	55880962	6	25802											
TCERG1	10915	hgsc.bcm.edu	37	5	145836845	145836845	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr5:145836845G>A	ENST00000296702.5	+	3	423	c.385G>A	c.(385-387)Gca>Aca	p.A129T	TCERG1_ENST00000394421.2_Missense_Mutation_p.A129T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	129	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTACTCCAGCACTACCTCC	0.458																																																0													101	95	97					5																	145836845		2203	4300	6503	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.385G>A	chr5.hg19:g.145836845G>A	ENSP00000296702:p.Ala129Thr		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	hg19	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742261	0.49151	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.25912	1.77;1.77	5.28	4.29	0.51040	.	0.308756	0.35124	N	0.003438	T	0.15392	0.0371	N	0.21282	0.65	0.33542	D	0.595008	B;B;B	0.17038	0.02;0.003;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.11324	-1.0592	10	0.27082	T	0.32	-18.8301	9.1164	0.36760	0.1984:0.0:0.8016:0.0	.	129;129;129	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	T	129	ENSP00000296702:A129T;ENSP00000377943:A129T	ENSP00000296702:A129T	A	+	1	0	TCERG1	145817038	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.771000	0.38542	2.463000	0.83235	0.491000	0.48974	GCA		0.458	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		A	145836845	G	A	145836845	3	1	476	1	0	0	0	0	1	0	0	0	15690	971	34	2	395	2	TCERG1	5	145836845	Missense_Mutation	SNP	G	TCGA-BQ-7050-01A-11D-1961-08		145836845	35078415	7	25803											
DSP	1832	hgsc.bcm.edu	37	6	7579570	7579570	+	Silent	SNP	G	G	T			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr6:7579570G>T	ENST00000379802.3	+	23	3488	c.3147G>T	c.(3145-3147)tcG>tcT	p.S1049S	DSP_ENST00000418664.2_Silent_p.S1049S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1049	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S1049S(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGCCAACTCGGAAAACTGTA	0.448																																																1	Substitution - coding silent(1)	large_intestine(1)											41	46	44					6																	7579570		2203	4300	6503	SO:0001819	synonymous_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3147G>T	chr6.hg19:g.7579570G>T			B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	hg19	CCDS4501.1																																																																																				0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7579570	G	T	7579570	2	4	476	1	0	0	0	0	0	0	0	1	4783	1103	39	4		4	DSP	6	7579570	Silent	SNP	G	TCGA-BQ-7050-01A-11D-1961-08		7579570	163535497	8	25804											
EPHB6	2051	hgsc.bcm.edu	37	7	142568111	142568111	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr7:142568111A>G	ENST00000392957.2	+	18	3539	c.2752A>G	c.(2752-2754)Atg>Gtg	p.M918V	EPHB6_ENST00000411471.2_Missense_Mutation_p.M641V|EPHB6_ENST00000442129.1_Missense_Mutation_p.M918V|EPHB6_ENST00000476059.1_3'UTR	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ATTTGACAAGATGATCCGCAA	0.577																																																0													65	75	72					7																	142568111		2203	4300	6503	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2752A>G	chr7.hg19:g.142568111A>G	ENSP00000376684:p.Met918Val		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	hg19	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180826	0.57800	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.61392	0.11;0.11;0.11	5.58	5.58	0.84498	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000016	T	0.60625	0.2283	L	0.49126	1.545	0.42496	D	0.992913	P;P	0.52463	0.953;0.946	P;P	0.51101	0.458;0.659	T	0.65561	-0.6138	10	0.87932	D	0	.	11.0016	0.47609	0.8441:0.1559:0.0:0.0	.	918;641	O15197;O15197-2	EPHB6_HUMAN;.	V	918;918;641	ENSP00000376684:M918V;ENSP00000410789:M918V;ENSP00000409061:M641V	ENSP00000376684:M918V	M	+	1	0	EPHB6	142278233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.307000	0.33516	2.107000	0.64212	0.533000	0.62120	ATG		0.577	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			G	142568111	A	G	142568111	3	3	476	1	0	0	0	0	1	0	0	0	5180	333	12	3	2806	3	EPHB6	7	142568111	Missense_Mutation	SNP	A	TCGA-BQ-7050-01A-11D-1961-08		142568111	16570552	9	25805											
ASB10	136371	hgsc.bcm.edu	37	7	150878332	150878332	+	Silent	SNP	G	G	T	rs61743170	byFrequency	TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr7:150878332G>T	ENST00000420175.2	-	3	822	c.798C>A	c.(796-798)gcC>gcA	p.A266A	ASB10_ENST00000275838.1_Silent_p.A266A|ASB10_ENST00000434669.1_Silent_p.A311A|ASB10_ENST00000377867.3_Silent_p.A251A|ASB10_ENST00000422024.1_Silent_p.A311A			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	266					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTGGCCTCGGCATCGGTGA	0.657																																																0													31	33	32					7																	150878332		2203	4298	6501	SO:0001819	synonymous_variant	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.798C>A	chr7.hg19:g.150878332G>T			A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	hg19	CCDS47750.2																																																																																				0.657	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		T	150878332	G	T	150878332	2	4	476	1	0	0	0	0	0	0	0	1	1014	1103	39	4		4	ASB10	7	150878332	Silent	SNP	G	TCGA-BQ-7050-01A-11D-1961-08	8310221	150878332	8260331	10	25806											
EPPK1	83481	hgsc.bcm.edu	37	8	144940482	144940482	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr8:144940482A>G	ENST00000525985.1	-	2	7011	c.6940T>C	c.(6940-6942)Tac>Cac	p.Y2314H				P58107	EPIPL_HUMAN	epiplakin 1	2314						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCCCGGTGTAGGGGTCGGTG	0.711																																																0													190	184	186					8																	144940482		2184	4264	6448	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6940T>C	chr8.hg19:g.144940482A>G	ENSP00000436337:p.Tyr2314His		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	hg19		.	.	.	.	.	.	.	.	.	.	A	19.61	3.860098	0.71834	.	.	ENSG00000227184	ENST00000525985	T	0.69040	-0.37	4.63	4.63	0.57726	.	.	.	.	.	T	0.78666	0.4319	M	0.74881	2.28	0.27571	N	0.949888	D	0.60575	0.988	D	0.74674	0.984	T	0.69289	-0.5184	9	0.20046	T	0.44	.	12.1078	0.53821	1.0:0.0:0.0:0.0	.	2314	E9PPU0	.	H	2314	ENSP00000436337:Y2314H	ENSP00000436337:Y2314H	Y	-	1	0	EPPK1	145012470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.597000	0.54031	1.957000	0.56846	0.477000	0.44152	TAC		0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		G	144940482	A	G	144940482	3	3	476	1	0	0	0	0	1	0	0	0	5192	420	15	3	326	3	EPPK1	8	144940482	Missense_Mutation	SNP	A	TCGA-BQ-7050-01A-11D-1961-08		144940482	1423540	11	25807											
NTRK2	4915	hgsc.bcm.edu	37	9	87342656	87342656	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr9:87342656C>G	ENST00000323115.4	+	8	1294	c.941C>G	c.(940-942)gCg>gGg	p.A314G	NTRK2_ENST00000359847.3_Missense_Mutation_p.A314G|NTRK2_ENST00000376213.1_Missense_Mutation_p.A314G|NTRK2_ENST00000395866.2_Missense_Mutation_p.A158G|NTRK2_ENST00000304053.6_Missense_Mutation_p.A314G|NTRK2_ENST00000376208.1_Missense_Mutation_p.A314G|NTRK2_ENST00000376214.1_Missense_Mutation_p.A314G|NTRK2_ENST00000395882.1_Missense_Mutation_p.A314G|NTRK2_ENST00000277120.3_Missense_Mutation_p.A314G			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	314	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CCCAAACCAGCGCTTCAGTGG	0.443										TSP Lung(25;0.17)																																						0													94	96	95					9																	87342656		2203	4300	6503	SO:0001583	missense	4915			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.941C>G	chr9.hg19:g.87342656C>G	ENSP00000314586:p.Ala314Gly		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	hg19	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321558	0.60634	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.385251	0.29900	N	0.010905	T	0.58090	0.2098	N	0.14661	0.345	0.30052	N	0.811719	B;B;B;B;B;B;B;B	0.27316	0.045;0.009;0.009;0.011;0.11;0.011;0.175;0.009	B;B;B;B;B;B;B;B	0.36766	0.064;0.022;0.022;0.039;0.232;0.043;0.148;0.023	T	0.52351	-0.8587	10	0.23891	T	0.37	.	20.2873	0.98536	0.0:1.0:0.0:0.0	.	158;314;314;314;314;314;360;314	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	G	314;314;314;314;314;314;314;314;158	ENSP00000365387:A314G;ENSP00000365386:A314G;ENSP00000379221:A314G;ENSP00000365381:A314G;ENSP00000306167:A314G;ENSP00000277120:A314G;ENSP00000314586:A314G;ENSP00000352906:A314G;ENSP00000379207:A158G	ENSP00000277120:A314G	A	+	2	0	NTRK2	86532476	0.561000	0.26578	1.000000	0.80357	0.998000	0.95712	2.910000	0.48766	2.799000	0.96334	0.585000	0.79938	GCG		0.443	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			G	87342656	C	G	87342656	3	3	476	1	0	0	0	0	1	0	0	0	10709	768	27	4	971	4	NTRK2	9	87342656	Missense_Mutation	SNP	C	TCGA-BQ-7050-01A-11D-1961-08		87342656	53870775	12	25808											
CYLC2	1539	hgsc.bcm.edu	37	9	105767702	105767702	+	Missense_Mutation	SNP	T	T	A	rs2298052	byFrequency	TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr9:105767702T>A	ENST00000374798.3	+	5	859	c.789T>A	c.(787-789)gaT>gaA	p.D263E	CYLC2_ENST00000487798.1_Missense_Mutation_p.D263E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	263	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.D263D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CCAAGAAAGATGCAAAGGAGA	0.388																																																1	Substitution - coding silent(1)	stomach(1)											117	112	114					9																	105767702		2203	4300	6503	SO:0001583	missense	1539			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.789T>A	chr9.hg19:g.105767702T>A	ENSP00000420256:p.Asp263Glu		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	hg19	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	T	2.261	-0.369199	0.05069	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.14022	2.54;2.54	4.21	-5.98	0.02220	.	1.421110	0.04878	N	0.447237	T	0.06050	0.0157	L	0.29908	0.895	0.80722	P	0.0	B	0.23891	0.093	B	0.23574	0.047	T	0.37244	-0.9714	9	0.02654	T	1	-0.742	0.3139	0.00292	0.3842:0.1819:0.2128:0.221	.	263	Q14093	CYLC2_HUMAN	E	263	ENSP00000420256:D263E;ENSP00000417674:D263E	ENSP00000420256:D263E	D	+	3	2	CYLC2	104807523	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.647000	0.05397	-0.974000	0.03550	0.477000	0.44152	GAT		0.388	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		A	105767702	T	A	105767702	3	1	476	1	0	0	0	0	1	0	0	0	4144	1461	51	5	807	5	CYLC2	9	105767702	Missense_Mutation	SNP	T	TCGA-BQ-7050-01A-11D-1961-08	18425046	105767702	35445729	13	25809											
DDB1	1642	hgsc.bcm.edu	37	11	61077796	61077796	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr11:61077796A>G	ENST00000301764.7	-	19	2769	c.2372T>C	c.(2371-2373)cTa>cCa	p.L791P	DDB1_ENST00000450997.2_Missense_Mutation_p.L102P	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	791	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATAAGTAGGTTGTGCAC	0.507								Nucleotide excision repair (NER)																																								0													137	119	125					11																	61077796		2203	4299	6502	SO:0001583	missense	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2372T>C	chr11.hg19:g.61077796A>G	ENSP00000301764:p.Leu791Pro		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	hg19	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.963370	0.92791	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000543658;ENST00000535147	T;T;T	0.50813	0.73;1.23;0.73	5.87	5.87	0.94306	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76509	-0.2933	10	0.87932	D	0	-20.9791	16.5764	0.84681	1.0:0.0:0.0:0.0	.	102;791	B4DG00;Q16531	.;DDB1_HUMAN	P	791;102;102;258	ENSP00000301764:L791P;ENSP00000388705:L102P;ENSP00000445844:L102P	ENSP00000301764:L791P	L	-	2	0	DDB1	60834372	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	CTA		0.507	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		G	61077796	A	G	61077796	3	3	476	1	0	0	0	0	1	0	0	0	4325	420	15	3	1086	3	DDB1	11	61077796	Missense_Mutation	SNP	A	TCGA-BQ-7050-01A-11D-1961-08		61077796	73928720	14	25810											
PCF11	51585	hgsc.bcm.edu	37	11	82875304	82875304	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr11:82875304C>T	ENST00000298281.4	+	4	1015	c.563C>T	c.(562-564)cCt>cTt	p.P188L		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	188					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATCTCCACTCCTCCAATTGTT	0.393																																																0													64	59	60					11																	82875304		1868	4092	5960	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.563C>T	chr11.hg19:g.82875304C>T	ENSP00000298281:p.Pro188Leu		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462969	0.63513	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.49432	1.74;0.78;0.79	5.73	5.73	0.89815	.	0.118143	0.39687	N	0.001292	T	0.36580	0.0972	L	0.36672	1.1	0.80722	D	1	P;B	0.35328	0.495;0.421	B;B	0.28849	0.095;0.058	T	0.13176	-1.0519	9	.	.	.	.	15.3998	0.74830	0.0:0.8614:0.1386:0.0	.	188;188	E9PQ01;O94913	.;PCF11_HUMAN	L	188	ENSP00000298281:P188L;ENSP00000434540:P188L;ENSP00000431567:P188L	.	P	+	2	0	PCF11	82552952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.304000	0.65744	2.710000	0.92621	0.650000	0.86243	CCT		0.393	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		T	82875304	C	T	82875304	3	4	476	1	0	0	0	0	1	0	0	0	11575	681	24	2	577	2	PCF11	11	82875304	Missense_Mutation	SNP	C	TCGA-BQ-7050-01A-11D-1961-08	21797508	82875304	52131212	15	25811											
RIMKLB	57494	hgsc.bcm.edu	37	12	8906675	8906675	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr12:8906675G>T	ENST00000538135.1	+	5	1508	c.683G>T	c.(682-684)aGc>aTc	p.S228I	RIMKLB_ENST00000535829.1_Missense_Mutation_p.S228I|RIMKLB_ENST00000357529.3_Missense_Mutation_p.S228I|RIMKLB_ENST00000299673.5_3'UTR			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	228	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGAATGCAAAGCAACTGCTCA	0.383																																																0													155	137	143					12																	8906675		1908	4124	6032	SO:0001583	missense	57494			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.683G>T	chr12.hg19:g.8906675G>T	ENSP00000440943:p.Ser228Ile		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	hg19	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477042	0.84640	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	4.82	4.82	0.62117	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	U	0.000000	D	0.84584	0.5504	M	0.89534	3.04	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.69824	0.966;0.94	D	0.88278	0.2934	9	0.87932	D	0	.	16.8175	0.85738	0.0:0.0:1.0:0.0	.	228;228	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	I	228	.	ENSP00000350136:S228I	S	+	2	0	RIMKLB	8797942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.835000	0.92100	2.375000	0.81037	0.585000	0.79938	AGC		0.383	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		T	8906675	G	T	8906675	3	4	476	1	0	0	0	0	1	0	0	0	13372	971	34	4	697	4	RIMKLB	12	8906675	Missense_Mutation	SNP	G	TCGA-BQ-7050-01A-11D-1961-08		8906675	124945220	16	25812											
PAN2	9924	hgsc.bcm.edu	37	12	56720460	56720460	+	Silent	SNP	T	T	C			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr12:56720460T>C	ENST00000425394.2	-	7	1579	c.1203A>G	c.(1201-1203)ccA>ccG	p.P401P	PAN2_ENST00000548043.1_Silent_p.P401P|PAN2_ENST00000257931.5_Silent_p.P401P|PAN2_ENST00000440411.3_Silent_p.P401P	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CAGTGGTGAGTGGGACAGGGA	0.597																																																0													70	61	64					12																	56720460		2203	4300	6503	SO:0001819	synonymous_variant	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1203A>G	chr12.hg19:g.56720460T>C				Silent	SNP	ENST00000425394.2	hg19	CCDS44922.1																																																																																				0.597	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		C	56720460	T	C	56720460	2	2	476	1	0	0	0	0	0	0	0	1	11416	1683	59	3		3	PAN2	12	56720460	Silent	SNP	T	TCGA-BQ-7050-01A-11D-1961-08	47813785	56720460	77131435	17	25813											
ZFC3H1	196441	hgsc.bcm.edu	37	12	72017888	72017888	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr12:72017888A>T	ENST00000378743.3	-	23	4860	c.4502T>A	c.(4501-4503)tTa>tAa	p.L1501*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1501					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCTTACCTGTAAAATTGCCAG	0.358																																																0													153	145	147					12																	72017888		1838	4095	5933	SO:0001587	stop_gained	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4502T>A	chr12.hg19:g.72017888A>T	ENSP00000368017:p.Leu1501*		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	ENST00000378743.3	hg19	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	A	45	11.914642	0.99617	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4122	0.74937	1.0:0.0:0.0:0.0	.	.	.	.	X	1501	.	ENSP00000368017:L1501X	L	-	2	0	ZFC3H1	70304155	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.262000	0.89862	2.038000	0.60285	0.533000	0.62120	TTA		0.358	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		T	72017888	A	T	72017888	4	4	476	1	0	0	0	0	0	1	0	0	17638	372	13	5	1519	5	ZFC3H1	12	72017888	Nonsense_Mutation	SNP	A	TCGA-BQ-7050-01A-11D-1961-08	15297428	72017888	61834007	18	25814											
THBS1	7057	hgsc.bcm.edu	37	15	39882095	39882095	+	Silent	SNP	C	C	G			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr15:39882095C>G	ENST00000260356.5	+	13	2181	c.2016C>G	c.(2014-2016)ccC>ccG	p.P672P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	672	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ATAGCGACCCCATGTACCGCT	0.607																																																0													111	92	99					15																	39882095		2200	4297	6497	SO:0001819	synonymous_variant	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2016C>G	chr15.hg19:g.39882095C>G			A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	hg19	CCDS32194.1																																																																																				0.607	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		G	39882095	C	G	39882095	2	3	476	1	0	0	0	0	0	0	0	1	15858	581	21	4		4	THBS1	15	39882095	Silent	SNP	C	TCGA-BQ-7050-01A-11D-1961-08		39882095	62649297	19	25815											
ZNF532	55205	hgsc.bcm.edu	37	18	56586514	56586514	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr18:56586514C>T	ENST00000336078.4	+	4	1771	c.995C>T	c.(994-996)cCg>cTg	p.P332L	ZNF532_ENST00000589288.1_Missense_Mutation_p.P332L|ZNF532_ENST00000591808.1_Missense_Mutation_p.P332L|ZNF532_ENST00000591083.1_Missense_Mutation_p.P332L|ZNF532_ENST00000591230.1_Missense_Mutation_p.P332L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGAAGCAACCGGATAGTCCC	0.522																																																0													97	100	99					18																	56586514		2203	4300	6503	SO:0001583	missense	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.995C>T	chr18.hg19:g.56586514C>T	ENSP00000338217:p.Pro332Leu		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	hg19	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	c	14.64	2.595026	0.46318	.	.	ENSG00000074657	ENST00000336078	T	0.02158	4.42	4.97	4.97	0.65823	.	0.114354	0.64402	N	0.000009	T	0.05456	0.0144	M	0.76574	2.34	0.80722	D	1	D	0.58620	0.983	B	0.41135	0.348	T	0.24657	-1.0154	10	0.87932	D	0	-11.3748	17.8864	0.88856	0.0:1.0:0.0:0.0	.	332	Q9HCE3	ZN532_HUMAN	L	332	ENSP00000338217:P332L	ENSP00000338217:P332L	P	+	2	0	ZNF532	54737494	1.000000	0.71417	0.494000	0.27515	0.027000	0.11550	7.737000	0.84957	2.320000	0.78422	0.550000	0.68814	CCG		0.522	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		T	56586514	C	T	56586514	3	4	476	1	0	0	0	0	1	0	0	0	17977	652	23	1	997	1	ZNF532	18	56586514	Missense_Mutation	SNP	C	TCGA-BQ-7050-01A-11D-1961-08		56586514	21490734	20	25816											
LMNB2	84823	hgsc.bcm.edu	37	19	2435072	2435072	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr19:2435072T>C	ENST00000582871.1	-	5	808	c.722A>G	c.(721-723)gAg>gGg	p.E241G	LMNB2_ENST00000325327.3_Missense_Mutation_p.E261G	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	241	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCAGCTCCTCCAGCGCCTG	0.701																																																0													37	39	38					19																	2435072		2200	4299	6499	SO:0001583	missense	84823			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.722A>G	chr19.hg19:g.2435072T>C	ENSP00000462730:p.Glu241Gly		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	hg19		.	.	.	.	.	.	.	.	.	.	T	16.18	3.050050	0.55218	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.83	4.83	0.62350	Filament (1);	0.116455	0.64402	D	0.000017	T	0.56529	0.1991	L	0.47016	1.485	0.46149	D	0.998892	B	0.09022	0.002	B	0.16722	0.016	T	0.57505	-0.7800	9	0.72032	D	0.01	.	13.2379	0.59979	0.0:0.0:0.0:1.0	.	241	Q03252	LMNB2_HUMAN	G	241	.	ENSP00000327054:E241G	E	-	2	0	LMNB2	2386072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.335000	0.52105	1.807000	0.52817	0.459000	0.35465	GAG		0.701	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		C	2435072	T	C	2435072	3	2	476	1	0	0	0	0	1	0	0	0	8852	1551	54	3	1112	3	LMNB2	19	2435072	Missense_Mutation	SNP	T	TCGA-BQ-7050-01A-11D-1961-08		2435072	56693911	21	25817											
ZNF440	126070	hgsc.bcm.edu	37	19	11943483	11943485	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	GTT	GTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr19:11943483_11943485delGTT	ENST00000304060.5	+	4	1656_1658	c.1492_1494delGTT	c.(1492-1494)gttdel	p.V498del		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCCTTCAGTAGTTCCAGTTCCTT	0.404																																																0																																										SO:0001651	inframe_deletion	126070			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1492_1494delGTT	chr19.hg19:g.11943483_11943485delGTT	ENSP00000305373:p.Val498del		Q8N1R9	In_Frame_Del	DEL	ENST00000304060.5	hg19	CCDS42503.1																																																																																				0.404	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		-	11943485	GTT	-	11943483	7	5	476	1	0	1	0	1	0	0	0	0	17918	1029	36	0	1506	0	ZNF440	19	11943483	In_Frame_Del	DEL	GTT	TCGA-BQ-7050-01A-11D-1961-08	9508411	11943483	47185500	22	25818											
ZFP36	7538	hgsc.bcm.edu	37	19	39898403	39898403	+	Silent	SNP	T	T	C			TCGA-BQ-7050-01A-11D-1961-08	TCGA-BQ-7050-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4b6b349c-fb1d-44a6-abcf-da2951066a9b	ecae3b13-cf72-4058-8385-cb3bf34bec83	g.chr19:39898403T>C	ENST00000248673.3	+	2	103	c.45T>C	c.(43-45)ccT>ccC	p.P15P	ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000597629.1_Silent_p.P21P|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	15					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCTGAGCCCTGACGTGCCCG	0.667																																					NSCLC(67;1164 1324 12056 21056 30097)											0													102	114	110					19																	39898403		2202	4298	6500	SO:0001819	synonymous_variant	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.45T>C	chr19.hg19:g.39898403T>C			B2RA54	Silent	SNP	ENST00000248673.3	hg19																																																																																					0.667	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				C	39898403	T	C	39898403	2	2	476	1	0	0	0	0	0	0	0	1	17650	1567	55	3		3	ZFP36	19	39898403	Silent	SNP	T	TCGA-BQ-7050-01A-11D-1961-08	27954920	39898403	19230580	23	25819											
PLCH2	9651	hgsc.bcm.edu	37	1	2436173	2436173	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:2436173G>A	ENST00000419816.2	+	22	4046	c.3772G>A	c.(3772-3774)Ggc>Agc	p.G1258S	PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.G1258S|PLCH2_ENST00000378488.3_Missense_Mutation_p.G1222S			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1258					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CAAGAGCCTGGGCGACCTCAC	0.701																																																0													28	34	32					1																	2436173		2066	4170	6236	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3772G>A	chr1.hg19:g.2436173G>A	ENSP00000389803:p.Gly1258Ser		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.88|18.88	3.718362|3.718362	0.68844|0.68844	.|.	.|.	ENSG00000149527|ENSG00000149527	ENST00000378486;ENST00000378488;ENST00000278878|ENST00000419816	T;T|.	0.76578|.	-0.69;-1.03|.	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	1.629000|.	0.03724|.	N|.	0.252361|.	T|.	0.74504|.	0.3725|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|.	0.76214|.	-0.3041|.	10|.	0.87932|.	D|.	0|.	.|.	15.9517|15.9517	0.79843|0.79843	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1010;1258|.	B9DI82;O75038|.	.;PLCH2_HUMAN|.	S|X	1258;1222;1010|552	ENSP00000367747:G1258S;ENSP00000367749:G1222S|.	ENSP00000278878:G1010S|.	G|W	+|+	1|3	0|0	PLCH2|PLCH2	2426033|2426033	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.712000|0.712000	0.41017|0.41017	5.901000|5.901000	0.69861|0.69861	1.999000|1.999000	0.58509|0.58509	0.491000|0.491000	0.48974|0.48974	GGC|TGG		0.701	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		A	2436173	G	A	2436173	3	1	477	1	0	0	0	0	1	0	0	0	12040	1232	43	2	3858	2	PLCH2	1	2436173	Missense_Mutation	SNP	G	TCGA-BQ-7051-01A-12D-1961-08		2436173	246814448	1	25820											
MFN2	9927	hgsc.bcm.edu	37	1	12061548	12061549	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:12061548_12061549delTT	ENST00000235329.5	+	9	1229_1230	c.907_908delTT	c.(907-909)tttfs	p.F303fs	MFN2_ENST00000444836.1_Frame_Shift_Del_p.F303fs	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	303	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CCGCATCTTCTTTGTGTCTGCT	0.574																																																0																																										SO:0001589	frameshift_variant	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.907_908delTT	chr1.hg19:g.12061548_12061549delTT	ENSP00000235329:p.Phe303fs		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Frame_Shift_Del	DEL	ENST00000235329.5	hg19	CCDS30587.1																																																																																				0.574	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		-	12061549	TT	-	12061548	7	5	477	1	0	1	0	1	0	0	0	0	9526	1609	56	0	933	0	MFN2	1	12061548	Frame_Shift_Del	DEL	TT	TCGA-BQ-7051-01A-12D-1961-08	9625375	12061548	237189073	2	25821											
HSPG2	3339	hgsc.bcm.edu	37	1	22214014	22214014	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:22214014C>A	ENST00000374695.3	-	8	936	c.857G>T	c.(856-858)gGg>gTg	p.G286V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	286	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTCCTGGGGCCCACAGGGCAG	0.657																																																0													67	82	77					1																	22214014		2203	4299	6502	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.857G>T	chr1.hg19:g.22214014C>A	ENSP00000363827:p.Gly286Val		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	hg19	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.61|18.61	3.661500|3.661500	0.67700|0.67700	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000412328;ENST00000374673|ENST00000374695	T;D|D	0.95918|0.95853	0.35;-3.85|-3.83	5.09|5.09	3.22|3.22	0.36961|0.36961	.|.	0.178923|0.178923	0.27027|0.27027	N|N	0.021295|0.021295	D|D	0.94771|0.94771	0.8312|0.8312	M|M	0.80183|0.80183	2.485|2.485	0.52501|0.52501	D|D	0.999955|0.999955	D|P	0.89917|0.36683	1.0|0.565	D|B	0.69479|0.41374	0.964|0.355	D|D	0.91702|0.91702	0.5374|0.5374	10|10	0.59425|0.38643	D|T	0.04|0.18	.|.	9.1776|9.1776	0.37120|0.37120	0.0:0.8213:0.0:0.1787|0.0:0.8213:0.0:0.1787	.|.	209|286	Q5SZI5|P98160	.|PGBM_HUMAN	C|V	209;113|286	ENSP00000405412:G209C;ENSP00000363805:G113C|ENSP00000363827:G286V	ENSP00000363805:G113C|ENSP00000363827:G286V	G|G	-|-	1|2	0|0	HSPG2|HSPG2	22086601|22086601	0.001000|0.001000	0.12720|0.12720	0.995000|0.995000	0.50966|0.50966	0.549000|0.549000	0.35272|0.35272	0.204000|0.204000	0.17335|0.17335	0.566000|0.566000	0.29273|0.29273	0.462000|0.462000	0.41574|0.41574	GGC|GGG		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22214014	C	A	22214014	3	1	477	1	0	0	0	0	1	0	0	0	7432	623	22	4	12678	4	HSPG2	1	22214014	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	10152466	22214014	227036607	3	25822											
HIVEP3	59269	hgsc.bcm.edu	37	1	42048585	42048585	+	Silent	SNP	A	A	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:42048585A>T	ENST00000372583.1	-	4	2769	c.1884T>A	c.(1882-1884)ctT>ctA	p.L628L	HIVEP3_ENST00000429157.2_Silent_p.L628L|HIVEP3_ENST00000247584.5_Silent_p.L628L|HIVEP3_ENST00000372584.1_Silent_p.L628L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	628	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTTTTTGGTAAGCTCGCTTT	0.493																																																0													123	120	121					1																	42048585		2203	4300	6503	SO:0001819	synonymous_variant	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1884T>A	chr1.hg19:g.42048585A>T			A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	hg19	CCDS463.1																																																																																				0.493	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		T	42048585	A	T	42048585	2	4	477	1	0	0	0	0	0	0	0	1	7190	349	13	5		5	HIVEP3	1	42048585	Silent	SNP	A	TCGA-BQ-7051-01A-12D-1961-08	19834571	42048585	207202036	4	25823											
CYP4A11	1579	hgsc.bcm.edu	37	1	47402352	47402352	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:47402352G>C	ENST00000310638.4	-	4	525	c.494C>G	c.(493-495)tCt>tGt	p.S165C	CYP4A11_ENST00000371905.1_Missense_Mutation_p.S165C|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371904.4_Missense_Mutation_p.S165C|CYP4A11_ENST00000457840.2_Missense_Mutation_p.S61C|CYP4A11_ENST00000462347.1_Missense_Mutation_p.S165C	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	165					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CACTCGTACAGAGTCTGCCAT	0.562																																																0													88	70	76					1																	47402352		2203	4300	6503	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.494C>G	chr1.hg19:g.47402352G>C	ENSP00000311095:p.Ser165Cys		Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	hg19	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	18.30	3.593520	0.66219	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	L	0.48642	1.525	0.41496	D	0.988252	P	0.45768	0.866	P	0.53988	0.739	T	0.71517	-0.4569	10	0.45353	T	0.12	.	15.1292	0.72507	0.0:0.1409:0.859:0.0	.	165	Q02928	CP4AB_HUMAN	C	165;165;165;61	ENSP00000311095:S165C;ENSP00000360971:S165C;ENSP00000360972:S165C;ENSP00000406272:S61C	ENSP00000311095:S165C	S	-	2	0	CYP4A11	47174939	1.000000	0.71417	0.448000	0.26945	0.053000	0.15095	4.950000	0.63603	2.640000	0.89533	0.644000	0.83932	TCT		0.562	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		C	47402352	G	C	47402352	3	2	477	1	0	0	0	0	1	0	0	0	4185	942	33	4	1101	4	CYP4A11	1	47402352	Missense_Mutation	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	5353767	47402352	201848269	5	25824											
ZCCHC11	23318	hgsc.bcm.edu	37	1	52902541	52902541	+	Silent	SNP	G	G	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:52902541G>T	ENST00000371544.3	-	26	4307	c.4045C>A	c.(4045-4047)Cga>Aga	p.R1349R	ZCCHC11_ENST00000257177.4_Silent_p.R1350R	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1349					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTAAAGTCTCGAGTATCGTGG	0.483																																																0													185	188	187					1																	52902541		2203	4300	6503	SO:0001819	synonymous_variant	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4045C>A	chr1.hg19:g.52902541G>T			A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	hg19	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	8.051	0.765950	0.15983	.	.	ENSG00000134744	ENST00000474453	.	.	.	3.77	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7235	0.34456	0.0:0.0:0.7739:0.2261	.	.	.	.	X	194	.	.	S	-	2	0	ZCCHC11	52675129	1.000000	0.71417	0.958000	0.39756	0.893000	0.52053	1.976000	0.40579	1.155000	0.42497	0.655000	0.94253	TCG		0.483	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		T	52902541	G	T	52902541	2	4	477	1	0	0	0	0	0	0	0	1	17585	1066	37	4		4	ZCCHC11	1	52902541	Silent	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	5500189	52902541	196348080	6	25825											
CEP350	9857	hgsc.bcm.edu	37	1	180000535	180000535	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:180000535A>C	ENST00000367607.3	+	15	4049	c.3631A>C	c.(3631-3633)Aaa>Caa	p.K1211Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1211	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAAGGAAAGAAATCTGGGAC	0.398																																																0													50	52	51					1																	180000535		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3631A>C	chr1.hg19:g.180000535A>C	ENSP00000356579:p.Lys1211Gln		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	hg19	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816051	0.90790	.	.	ENSG00000135837	ENST00000367607	T	0.59906	0.23	6.02	6.02	0.97574	.	0.000000	0.49916	D	0.000133	T	0.66616	0.2807	L	0.32530	0.975	0.42214	D	0.991828	D;D	0.76494	0.999;0.998	D;P	0.78314	0.991;0.796	T	0.64884	-0.6302	9	.	.	.	.	16.2108	0.82158	1.0:0.0:0.0:0.0	.	1211;1211	E7EU22;Q5VT06	.;CE350_HUMAN	Q	1211	ENSP00000356579:K1211Q	.	K	+	1	0	CEP350	178267158	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.354000	0.73036	2.299000	0.77371	0.528000	0.53228	AAA		0.398	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		C	180000535	A	C	180000535	3	2	477	1	0	0	0	0	1	0	0	0	3256	247	9	5	3685	5	CEP350	1	180000535	Missense_Mutation	SNP	A	TCGA-BQ-7051-01A-12D-1961-08	127097994	180000535	69250086	7	25826											
PTPN14	5784	hgsc.bcm.edu	37	1	214556993	214556993	+	Silent	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:214556993G>A	ENST00000366956.5	-	13	2399	c.2205C>T	c.(2203-2205)gcC>gcT	p.A735A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	735					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCTGCAGCTGGGCACTGTACT	0.632																																					Colon(92;557 1424 24372 34121 40073)											0													35	41	39					1																	214556993		2201	4295	6496	SO:0001819	synonymous_variant	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2205C>T	chr1.hg19:g.214556993G>A			Q5VSI0	Silent	SNP	ENST00000366956.5	hg19	CCDS1514.1																																																																																				0.632	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		A	214556993	G	A	214556993	2	1	477	1	0	0	0	0	0	0	0	1	12789	1219	43	2		2	PTPN14	1	214556993	Silent	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	34556458	214556993	34693628	8	25827											
SULT1C4	27233	hgsc.bcm.edu	37	2	109002781	109002781	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr2:109002781T>C	ENST00000272452.2	+	6	1075	c.749T>C	c.(748-750)aTt>aCt	p.I250T	SULT1C4_ENST00000409309.3_Missense_Mutation_p.I175T	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	250					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TATTCATCGATTCCTGCTGAA	0.299																																																0													92	89	90					2																	109002781		2203	4300	6503	SO:0001583	missense	27233			AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.749T>C	chr2.hg19:g.109002781T>C	ENSP00000272452:p.Ile250Thr		Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	hg19	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502652	0.26949	.	.	ENSG00000198075	ENST00000272452;ENST00000409309	D;D	0.82344	-1.6;-1.6	4.69	3.51	0.40186	Sulfotransferase domain (1);	0.823783	0.10424	N	0.676268	T	0.81034	0.4739	L	0.39147	1.195	0.09310	N	1	P;B	0.39480	0.675;0.05	P;B	0.47603	0.551;0.131	T	0.69650	-0.5088	10	0.54805	T	0.06	.	6.7246	0.23348	0.1598:0.0:0.1461:0.6941	.	175;250	Q08AS5;O75897	.;ST1C4_HUMAN	T	250;175	ENSP00000272452:I250T;ENSP00000387225:I175T	ENSP00000272452:I250T	I	+	2	0	SULT1C4	108369213	0.086000	0.21541	0.001000	0.08648	0.087000	0.18053	3.039000	0.49791	0.904000	0.36572	0.496000	0.49642	ATT		0.299	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		C	109002781	T	C	109002781	3	2	477	1	0	0	0	0	1	0	0	0	15384	1493	52	3	771	3	SULT1C4	2	109002781	Missense_Mutation	SNP	T	TCGA-BQ-7051-01A-12D-1961-08		109002781	134196592	9	25828											
NFE2L2	4780	hgsc.bcm.edu	37	2	178098803	178098803	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr2:178098803C>A	ENST00000397062.3	-	2	796	c.242G>T	c.(241-243)gGt>gTt	p.G81V	NFE2L2_ENST00000446151.2_Missense_Mutation_p.G65V|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G65V|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G65V|NFE2L2_ENST00000423513.1_Missense_Mutation_p.G65V	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	81					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G81D(5)|p.G81V(4)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GAGAAATTCACCTGTCTCTTC	0.433			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	10	Substitution - Missense(9)|Deletion - In frame(1)	lung(4)|oesophagus(2)|liver(2)|endometrium(1)|kidney(1)											143	142	142					2																	178098803		1901	4105	6006	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.242G>T	chr2.hg19:g.178098803C>A	ENSP00000380252:p.Gly81Val		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	hg19	CCDS42782.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.883817|4.883817	0.91814|0.91814	.|.	.|.	ENSG00000116044|ENSG00000116044	ENST00000449627|ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	.|T;T;T;T;T;T	.|0.52983	.|1.19;1.19;1.19;0.64;0.64;1.19	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.75110	.|0.3805	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.999;1.0;0.999	.|T	.|0.78563	.|-0.2156	.|10	.|0.87932	.|D	.|0	.|.	19.9976|19.9976	0.97389|0.97389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|65;65;65;81	.|E9PGJ7;B4DNB0;C9JFL6;Q16236	.|.;.;.;NF2L2_HUMAN	.|V	-1|65;81;65;65;65;65	.|ENSP00000380253:G65V;ENSP00000380252:G81V;ENSP00000411575:G65V;ENSP00000400073:G65V;ENSP00000412191:G65V;ENSP00000410015:G65V	.|ENSP00000380252:G81V	.|G	-|-	.|2	.|0	NFE2L2|NFE2L2	177807049|177807049	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.993000|0.993000	0.82548|0.82548	7.298000|7.298000	0.78815|0.78815	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	.|GGT		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		A	178098803	C	A	178098803	3	1	477	1	0	0	0	0	1	0	0	0	10370	507	18	4	1591	4	NFE2L2	2	178098803	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	69096022	178098803	65100570	10	25829											
SLC22A13	9390	hgsc.bcm.edu	37	3	38317429	38317429	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:38317429T>C	ENST00000311856.4	+	7	1128	c.1079T>C	c.(1078-1080)cTg>cCg	p.L360P	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	360					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GACTTCGGCCTGGACGTCTAT	0.572																																																0													80	77	78					3																	38317429		2203	4300	6503	SO:0001583	missense	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1079T>C	chr3.hg19:g.38317429T>C	ENSP00000310241:p.Leu360Pro		B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	hg19	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652783	0.67472	.	.	ENSG00000172940	ENST00000311856	T	0.62639	0.01	5.04	5.04	0.67666	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.81408	0.4816	M	0.91196	3.185	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.70227	0.945;0.968	T	0.82623	-0.0366	10	0.28530	T	0.3	.	14.2827	0.66224	0.0:0.0:0.0:1.0	.	360;360	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	P	360	ENSP00000310241:L360P	ENSP00000310241:L360P	L	+	2	0	SLC22A13	38292433	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	5.806000	0.69150	2.040000	0.60383	0.533000	0.62120	CTG		0.572	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		C	38317429	T	C	38317429	3	2	477	1	0	0	0	0	1	0	0	0	14450	1580	55	3	1105	3	SLC22A13	3	38317429	Missense_Mutation	SNP	T	TCGA-BQ-7051-01A-12D-1961-08		38317429	159705001	11	25830											
SACM1L	22908	hgsc.bcm.edu	37	3	45773632	45773632	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:45773632A>T	ENST00000389061.5	+	13	1293	c.1089A>T	c.(1087-1089)caA>caT	p.Q363H	SACM1L_ENST00000541314.1_Missense_Mutation_p.Q302H|SACM1L_ENST00000418611.1_Missense_Mutation_p.Q260H	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	363	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CAGAAATGCAAGATGAATTAA	0.338																																																0													105	115	112					3																	45773632		2203	4299	6502	SO:0001583	missense	22908			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1089A>T	chr3.hg19:g.45773632A>T	ENSP00000373713:p.Gln363His		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	hg19	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.391717	0.42410	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314;ENST00000433336	T;T;T;T	0.43294	0.95;0.95;0.95;1.53	5.99	-5.27	0.02763	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.88031	2.925	0.52501	D	0.999958	D;D	0.76494	0.999;0.998	D;D	0.65987	0.94;0.912	T	0.68716	-0.5335	10	0.36615	T	0.2	-3.4019	15.7038	0.77563	0.4825:0.0:0.5175:0.0	.	302;363	B4DK71;Q9NTJ5	.;SAC1_HUMAN	H	260;363;302;40	ENSP00000396387:Q260H;ENSP00000373713:Q363H;ENSP00000443373:Q302H;ENSP00000412883:Q40H	ENSP00000373713:Q363H	Q	+	3	2	SACM1L	45748636	0.993000	0.37304	0.874000	0.34290	0.998000	0.95712	0.423000	0.21313	-1.249000	0.02500	0.533000	0.62120	CAA		0.338	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		T	45773632	A	T	45773632	3	4	477	1	0	0	0	0	1	0	0	0	13809	69	3	5	1139	5	SACM1L	3	45773632	Missense_Mutation	SNP	A	TCGA-BQ-7051-01A-12D-1961-08	7456203	45773632	152248798	12	25831											
SLC38A3	10991	hgsc.bcm.edu	37	3	50252997	50252997	+	RNA	SNP	T	T	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:50252997T>C	ENST00000420502.1	+	0	548									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		TATGAGCAGCTGGGCTACCGT	0.622																																																0													47	51	50					3																	50252997		2095	4216	6311			10991			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		chr3.hg19:g.50252997T>C				Missense_Mutation	SNP	ENST00000420502.1	hg19																																																																																					0.622	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		C	50252997	T	C	50252997	1	2	477	0	1	0	0	0	0	0	0	0	14611	1580	55	3		3	SLC38A3	3	50252997	RNA	SNP	T	TCGA-BQ-7051-01A-12D-1961-08	4479365	50252997	147769433	13	25832											
PPM1M	132160	hgsc.bcm.edu	37	3	52282683	52282683	+	Silent	SNP	C	C	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:52282683C>T	ENST00000296487.4	+	7	866	c.462C>T	c.(460-462)ctC>ctT	p.L154L	PPM1M_ENST00000323588.4_Silent_p.L154L|PPM1M_ENST00000457351.2_Silent_p.L315L|PPM1M_ENST00000409502.3_Silent_p.L103L			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	154	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		AATCGGATCTCAAGTACCCAC	0.572																																					NSCLC(151;810 2688 34365 49863)											0													156	139	145					3																	52282683		2203	4300	6503	SO:0001819	synonymous_variant	132160			AK096681	CCDS46840.1	3p21.31	2012-04-17	2010-03-05		ENSG00000164088	ENSG00000164088		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	26506	protein-coding gene	gene with protein product	"protein phosphatase 2C eta"	608979	"protein phosphatase 1M (PP2C domain containing)"			12477932	Standard	NM_001122870		Approved	PP2Ceta, FLJ32332	uc011bed.2	Q96MI6	OTTHUMG00000153046	ENST00000296487.4:c.462C>T	chr3.hg19:g.52282683C>T			Q8N8J9|Q96DB8	Silent	SNP	ENST00000296487.4	hg19		.	.	.	.	.	.	.	.	.	.	C	9.454	1.091407	0.20471	.	.	ENSG00000164088	ENST00000457454	.	.	.	4.78	3.9	0.45041	.	.	.	.	.	T	0.58337	0.2115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54957	-0.8215	4	.	.	.	.	8.0844	0.30762	0.0:0.7542:0.1611:0.0848	.	.	.	.	L	210	.	.	S	+	2	0	PPM1M	52257723	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.991000	0.29654	1.205000	0.43262	0.561000	0.74099	TCA		0.572	PPM1M-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000329230.2	NM_144641		T	52282683	C	T	52282683	2	4	477	1	0	0	0	0	0	0	0	1	12350	813	29	2		2	PPM1M	3	52282683	Silent	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	2029686	52282683	145739747	14	25833											
SLMAP	7871	hgsc.bcm.edu	37	3	57827089	57827089	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:57827089T>C	ENST00000428312.1	+	3	504	c.410T>C	c.(409-411)cTc>cCc	p.L137P	SLMAP_ENST00000295951.3_Missense_Mutation_p.L137P|SLMAP_ENST00000449503.2_Missense_Mutation_p.L137P|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.L137P|SLMAP_ENST00000383718.3_Missense_Mutation_p.L137P			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	137	Necessary for targeting to centrosomes. {ECO:0000250}.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAAGCCCGGCTCCGCTCAGAG	0.338																																																0													67	70	69					3																	57827089		2203	4300	6503	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.410T>C	chr3.hg19:g.57827089T>C	ENSP00000398661:p.Leu137Pro		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	hg19		.	.	.	.	.	.	.	.	.	.	T	11.27	1.589587	0.28357	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	T;T;T;T;T	0.47177	1.45;1.45;0.85;1.44;1.49	4.85	4.85	0.62838	.	0.259220	0.31438	N	0.007646	T	0.24586	0.0596	N	0.01874	-0.695	0.80722	D	1	P;P;P;B	0.50369	0.816;0.934;0.898;0.002	P;B;B;B	0.45712	0.491;0.418;0.434;0.005	T	0.11299	-1.0593	10	0.26408	T	0.33	-2.0339	10.587	0.45288	0.0:0.0:0.1615:0.8385	.	137;137;137;137	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	P	137	ENSP00000295951:L137P;ENSP00000295952:L137P;ENSP00000373224:L137P;ENSP00000398661:L137P;ENSP00000412945:L137P	ENSP00000295951:L137P	L	+	2	0	SLMAP	57802129	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.864000	0.69575	1.799000	0.52666	0.533000	0.62120	CTC		0.338	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		C	57827089	T	C	57827089	3	2	477	1	0	0	0	0	1	0	0	0	14755	1551	54	3	420	3	SLMAP	3	57827089	Missense_Mutation	SNP	T	TCGA-BQ-7051-01A-12D-1961-08	5544406	57827089	140195341	15	25834											
ADAMTS9	56999	hgsc.bcm.edu	37	3	64536694	64536703	+	Frame_Shift_Del	DEL	CACCACCTTG	CACCACCTTG	-	rs17071010|rs146412036|rs138988394	byFrequency	TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	CACCACCTTG	CACCACCTTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:64536694_64536703delCACCACCTTG	ENST00000498707.1	-	31	5076_5085	c.4734_4743delCAAGGTGGTG	c.(4732-4743)cgcaaggtggtgfs	p.RKVV1578fs	ADAMTS9_ENST00000295903.4_Frame_Shift_Del_p.RKVV1550fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1578	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1581M(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATCCACACACACCACCTTGCGGTACCTGG	0.5																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4734_4743delCAAGGTGGTG	chr3.hg19:g.64536694_64536703delCACCACCTTG	ENSP00000418735:p.Arg1578fs		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Frame_Shift_Del	DEL	ENST00000498707.1	hg19	CCDS2903.1																																																																																				0.5	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			-	64536703	CACCACCTTG	-	64536694	7	5	477	1	0	1	0	1	0	0	0	0	273	465	17	0	1100	0	ADAMTS9	3	64536694	Frame_Shift_Del	DEL	CACCACCTTG	TCGA-BQ-7051-01A-12D-1961-08	6709605	64536694	133485736	16	25835											
KIAA1524	57650	hgsc.bcm.edu	37	3	108282018	108282018	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:108282018C>A	ENST00000295746.8	-	13	1665	c.1589G>T	c.(1588-1590)aGa>aTa	p.R530I	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.R371I	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	530					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R530T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAATAATATTCTCAGTCCAGA	0.393																																																1	Substitution - Missense(1)	ovary(1)											154	159	158					3																	108282018		2203	4300	6503	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1589G>T	chr3.hg19:g.108282018C>A	ENSP00000295746:p.Arg530Ile		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	hg19	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770678	0.69992	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.35048	1.33;1.33	5.3	4.43	0.53597	.	0.494865	0.23127	N	0.051633	T	0.40067	0.1102	L	0.53249	1.67	0.53005	D	0.999964	P	0.46706	0.883	P	0.46172	0.506	T	0.31024	-0.9958	10	0.62326	D	0.03	-4.6479	11.7182	0.51666	0.0:0.8541:0.0:0.1459	.	530	Q8TCG1	CIP2A_HUMAN	I	371;530	ENSP00000419487:R371I;ENSP00000295746:R530I	ENSP00000295746:R530I	R	-	2	0	KIAA1524	109764708	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.617000	0.46385	1.237000	0.43756	0.563000	0.77884	AGA		0.393	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		A	108282018	C	A	108282018	3	1	477	1	0	0	0	0	1	0	0	0	8241	913	32	4	1164	4	KIAA1524	3	108282018	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	43745324	108282018	89740412	17	25836											
ZNF721	170960	hgsc.bcm.edu	37	4	436019	436019	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr4:436019A>C	ENST00000338977.5	-	2	2249	c.2201T>G	c.(2200-2202)aTt>aGt	p.I734S	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.I746S|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	734					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCCAGTATGAATTTTCTTATA	0.378																																																0													31	33	32					4																	436019		1990	4173	6163	SO:0001583	missense	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2201T>G	chr4.hg19:g.436019A>C	ENSP00000340524:p.Ile734Ser		Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	hg19		.	.	.	.	.	.	.	.	.	.	A	10.61	1.397775	0.25205	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.00949	5.51;5.51	1.28	-0.782	0.10961	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01558	0.0050	L	0.52266	1.64	0.09310	N	1	P;P;P	0.41569	0.65;0.755;0.711	P;B;B	0.47102	0.537;0.239;0.154	T	0.44651	-0.9314	9	0.56958	D	0.05	.	4.9522	0.14021	0.6885:0.3115:0.0:0.0	.	734;746;746	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	S	734;746	ENSP00000340524:I734S;ENSP00000428878:I746S	ENSP00000340524:I734S	I	-	2	0	ZNF721	426019	0.000000	0.05858	0.003000	0.11579	0.055000	0.15305	0.796000	0.26986	-0.422000	0.07405	0.155000	0.16302	ATT		0.378	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		C	436019	A	C	436019	3	2	477	1	0	0	0	0	1	0	0	0	18127	101	4	5	538	5	ZNF721	4	436019	Missense_Mutation	SNP	A	TCGA-BQ-7051-01A-12D-1961-08		436019	190718257	18	25837											
NSUN7	79730	hgsc.bcm.edu	37	4	40778094	40778094	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr4:40778094C>A	ENST00000381782.2	+	7	1349	c.854C>A	c.(853-855)tCt>tAt	p.S285Y	NSUN7_ENST00000316607.5_Missense_Mutation_p.S285Y|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	285							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GCTGTCCATTCTGTAAAGGCT	0.333																																																0													92	92	92					4																	40778094		2202	4298	6500	SO:0001583	missense	79730			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.854C>A	chr4.hg19:g.40778094C>A	ENSP00000371201:p.Ser285Tyr		C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	hg19	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318911	0.81469	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.09163	3.01;3.01	5.61	5.61	0.85477	.	0.180007	0.49305	D	0.000151	T	0.31918	0.0812	L	0.59436	1.845	0.51767	D	0.999938	D;D	0.71674	0.997;0.998	D;D	0.72075	0.931;0.976	T	0.00666	-1.1619	10	0.66056	D	0.02	-20.3807	19.2661	0.93985	0.0:1.0:0.0:0.0	.	285;285	Q8NE18;Q8NE18-2	NSUN7_HUMAN;.	Y	285	ENSP00000371201:S285Y;ENSP00000319127:S285Y	ENSP00000319127:S285Y	S	+	2	0	NSUN7	40472851	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.610000	0.67668	2.643000	0.89663	0.557000	0.71058	TCT		0.333	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		A	40778094	C	A	40778094	3	1	477	1	0	0	0	0	1	0	0	0	10685	913	32	4	876	4	NSUN7	4	40778094	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	40342075	40778094	150376182	19	25838											
POLR2B	5431	hgsc.bcm.edu	37	4	57891054	57891054	+	Silent	SNP	A	A	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr4:57891054A>G	ENST00000381227.1	+	23	3380	c.2967A>G	c.(2965-2967)gtA>gtG	p.V989V	POLR2B_ENST00000314595.5_Silent_p.V989V|POLR2B_ENST00000431623.2_Silent_p.V914V|POLR2B_ENST00000441246.2_Silent_p.V982V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	989					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTAAAAGGTATCGGCTAACA	0.313																																																0													118	119	119					4																	57891054		2203	4300	6503	SO:0001819	synonymous_variant	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2967A>G	chr4.hg19:g.57891054A>G			A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	hg19	CCDS3511.1																																																																																				0.313	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		G	57891054	A	G	57891054	2	3	477	1	0	0	0	0	0	0	0	1	12217	436	16	3		3	POLR2B	4	57891054	Silent	SNP	A	TCGA-BQ-7051-01A-12D-1961-08	17112960	57891054	133263222	20	25839											
DHX29	54505	hgsc.bcm.edu	37	5	54591351	54591351	+	Splice_Site	SNP	A	A	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr5:54591351A>G	ENST00000251636.5	-	5	655	c.507T>C	c.(505-507)gaT>gaC	p.D169D	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	169						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CAGGAAGTGCATCTTAAAATA	0.348																																																0													73	74	74					5																	54591351		2203	4300	6503	SO:0001630	splice_region_variant	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.506-1T>C	chr5.hg19:g.54591351A>G			O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	hg19	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781171	0.31502	.	.	ENSG00000067248	ENST00000508346	.	.	.	5.95	3.44	0.39384	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53746	-0.8395	4	.	.	.	.	8.1903	0.31363	0.7953:0.1348:0.07:0.0	.	.	.	.	R	134	.	.	C	-	1	0	DHX29	54627108	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.848000	0.39309	1.075000	0.40932	0.528000	0.53228	TGC		0.348	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	Silent	G	54591351	A	G	54591351	5	3	477	1	0	0	0	0	0	0	1	0	4505	231	8	3	3694	3	DHX29	5	54591351	Splice_Site	SNP	A	TCGA-BQ-7051-01A-12D-1961-08		54591351	126323909	21	25840											
CTNNA1	1495	hgsc.bcm.edu	37	5	138268291	138268291	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr5:138268291G>A	ENST00000302763.7	+	17	2413	c.2323G>A	c.(2323-2325)Gac>Aac	p.D775N	CTNNA1_ENST00000355078.5_Missense_Mutation_p.D672N|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D775N|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D405N	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	775					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTGCAAGCAGGACCTGCTGGC	0.607																																																0													53	46	49					5																	138268291		2203	4300	6503	SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2323G>A	chr5.hg19:g.138268291G>A	ENSP00000304669:p.Asp775Asn		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	hg19	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472975	0.96274	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	M	0.65677	2.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.977	D;D;P	0.87578	0.996;0.998;0.893	T	0.45614	-0.9249	10	0.13108	T	0.6	-22.7863	19.2223	0.93803	0.0:0.0:1.0:0.0	.	775;652;775	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	N	672;775;775;760;775;405	ENSP00000347190:D672N;ENSP00000304669:D775N;ENSP00000427821:D775N;ENSP00000438476:D405N	ENSP00000304669:D775N	D	+	1	0	CTNNA1	138296190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.635000	0.98437	2.873000	0.98535	0.563000	0.77884	GAC		0.607	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		A	138268291	G	A	138268291	3	1	477	1	0	0	0	0	1	0	0	0	4014	1174	41	2	2385	2	CTNNA1	5	138268291	Missense_Mutation	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	83676940	138268291	42646969	22	25841											
ANKHD1	54882	hgsc.bcm.edu	37	5	139864824	139864824	+	Silent	SNP	T	T	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr5:139864824T>C	ENST00000360839.2	+	12	2143	c.1989T>C	c.(1987-1989)caT>caC	p.H663H	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.H663H|ANKHD1_ENST00000297183.6_Silent_p.H663H	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	663						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCTACTCATCGACTCAAGG	0.498																																																0													85	75	78					5																	139864824		2203	4300	6503	SO:0001819	synonymous_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1989T>C	chr5.hg19:g.139864824T>C			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	hg19	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	T	9.851	1.193672	0.22037	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.29	2.6	0.31112	.	.	.	.	.	T	0.58864	0.2152	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54807	-0.8238	4	.	.	.	.	9.6999	0.40180	0.0:0.2399:0.0:0.7601	.	.	.	.	T	158	.	.	I	+	2	0	ANKHD1	139845008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.439000	0.44846	0.939000	0.37446	0.459000	0.35465	ATC		0.498	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		C	139864824	T	C	139864824	2	2	477	1	0	0	0	0	0	0	0	1	628	1432	50	3		3	ANKHD1	5	139864824	Silent	SNP	T	TCGA-BQ-7051-01A-12D-1961-08	1596533	139864824	41050436	23	25842											
TMCO6	55374	hgsc.bcm.edu	37	5	140021512	140021512	+	Silent	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr5:140021512G>A	ENST00000394671.3	+	4	473	c.372G>A	c.(370-372)ctG>ctA	p.L124L	TMCO6_ENST00000511410.1_3'UTR|TMCO6_ENST00000252100.6_Silent_p.L124L|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	124					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCCTGCTGCAGCTTGAGG	0.622																																																0													40	45	44					5																	140021512		2033	4188	6221	SO:0001819	synonymous_variant	55374			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.372G>A	chr5.hg19:g.140021512G>A			Q9BUU0|Q9P198	Silent	SNP	ENST00000394671.3	hg19	CCDS4233.2																																																																																				0.622	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		A	140021512	G	A	140021512	2	1	477	1	0	0	0	0	0	0	0	1	16005	1306	46	2		2	TMCO6	5	140021512	Silent	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	156688	140021512	40893748	24	25843											
C6orf47	57827	hgsc.bcm.edu	37	6	31627425	31627425	+	Silent	SNP	A	A	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr6:31627425A>G	ENST00000375911.1	-	1	1124	c.300T>C	c.(298-300)acT>acC	p.T100T	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	100						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CAGACTCTTGAGTGCTAGAGA	0.577																																																0													61	65	64					6																	31627425		1510	2708	4218	SO:0001819	synonymous_variant	57827			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.300T>C	chr6.hg19:g.31627425A>G			B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Silent	SNP	ENST00000375911.1	hg19	CCDS34399.1																																																																																				0.577	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		G	31627425	A	G	31627425	2	3	477	1	0	0	0	0	0	0	0	1	2366	291	11	3		3	C6orf47	6	31627425	Silent	SNP	A	TCGA-BQ-7051-01A-12D-1961-08		31627425	139487642	25	25844											
PHF1	5252	hgsc.bcm.edu	37	6	33380325	33380325	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr6:33380325A>T	ENST00000374516.3	+	3	471	c.200A>T	c.(199-201)gAt>gTt	p.D67V	PHF1_ENST00000374512.3_Missense_Mutation_p.D67V|PHF1_ENST00000459809.1_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	67	Tudor.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CAGTTTGAGGATGATTCGCAG	0.478																																																0													166	162	163					6																	33380325		2203	4300	6503	SO:0001583	missense	5252			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.200A>T	chr6.hg19:g.33380325A>T	ENSP00000363640:p.Asp67Val		B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	hg19	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967657	0.74131	.	.	ENSG00000112511	ENST00000427004;ENST00000428274;ENST00000374512;ENST00000374516	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	4.58	4.58	0.56647	Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.73651	0.3614	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.99	T	0.77910	-0.2411	10	0.87932	D	0	-21.3302	11.944	0.52918	1.0:0.0:0.0:0.0	.	67;67	O43189-2;O43189	.;PHF1_HUMAN	V	67	ENSP00000410494:D67V;ENSP00000392697:D67V;ENSP00000363636:D67V;ENSP00000363640:D67V	ENSP00000363636:D67V	D	+	2	0	PHF1	33488303	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	8.976000	0.93442	1.928000	0.55862	0.460000	0.39030	GAT		0.478	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			T	33380325	A	T	33380325	3	4	477	1	0	0	0	0	1	0	0	0	11822	333	12	5	206	5	PHF1	6	33380325	Missense_Mutation	SNP	A	TCGA-BQ-7051-01A-12D-1961-08	1752900	33380325	137734742	26	25845											
GUCA1B	2979	hgsc.bcm.edu	37	6	42152609	42152609	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr6:42152609C>A	ENST00000230361.3	-	4	642	c.547G>T	c.(547-549)Gac>Tac	p.D183Y		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	183					body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			GGATTCATGTCCATCTGCAGC	0.587																																																0													131	112	118					6																	42152609		2203	4300	6503	SO:0001583	missense	2979			AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"EF-hand domain containing"	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.547G>T	chr6.hg19:g.42152609C>A	ENSP00000230361:p.Asp183Tyr		Q9NU15	Missense_Mutation	SNP	ENST00000230361.3	hg19	CCDS4865.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274245	0.80580	.	.	ENSG00000112599	ENST00000230361	T	0.53640	0.61	4.36	4.36	0.52297	EF-hand-like domain (1);	0.102162	0.64402	D	0.000004	T	0.38719	0.1051	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52711	-0.8539	10	0.54805	T	0.06	.	15.1849	0.72993	0.0:1.0:0.0:0.0	.	183	Q9UMX6	GUC1B_HUMAN	Y	183	ENSP00000230361:D183Y	ENSP00000230361:D183Y	D	-	1	0	GUCA1B	42260587	1.000000	0.71417	0.992000	0.48379	0.874000	0.50279	5.791000	0.69045	2.361000	0.80049	0.655000	0.94253	GAC		0.587	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040550.1	NM_002098		A	42152609	C	A	42152609	3	1	477	1	0	0	0	0	1	0	0	0	6891	855	30	4	59	4	GUCA1B	6	42152609	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	8772284	42152609	128962458	27	25846											
SYNJ2	8871	hgsc.bcm.edu	37	6	158450005	158450005	+	Silent	SNP	C	C	T	rs372960799		TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr6:158450005C>T	ENST00000355585.4	+	3	507	c.432C>T	c.(430-432)gtC>gtT	p.V144V	SYNJ2_ENST00000367122.2_Silent_p.V144V|SYNJ2_ENST00000367121.3_Silent_p.V144V|SYNJ2_ENST00000449859.2_Silent_p.V93V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	144	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACCTGACTGTCCGCACGCAGA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16943	0.0		0.0	False		,,,				2504	0.0															0								C	,	1,4405	2.1+/-5.4	0,1,2202	65	67	66		,432	-0.5	0.7	6		66	0,8600		0,0,4300	no	utr-5,coding-synonymous	SYNJ2	NM_001178088.1,NM_003898.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,144/1497	158450005	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.432C>T	chr6.hg19:g.158450005C>T			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	hg19	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	0.979	-0.697726	0.03279	2.27E-4	0.0	ENSG00000078269	ENST00000367113	.	.	.	4.62	-0.532	0.11890	.	.	.	.	.	T	0.45875	0.1364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51857	-0.8652	4	.	.	.	.	11.4359	0.50068	0.0:0.2478:0.6114:0.1408	.	.	.	.	F	119	.	.	S	+	2	0	SYNJ2	158369993	0.753000	0.28349	0.672000	0.29872	0.084000	0.17831	0.009000	0.13219	1.108000	0.41662	0.655000	0.94253	TCC		0.582	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			T	158450005	C	T	158450005	2	4	477	1	0	0	0	0	0	0	0	1	15458	842	30	2		2	SYNJ2	6	158450005	Silent	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	116297396	158450005	12665062	28	25847											
ARMC10	83787	hgsc.bcm.edu	37	7	102724230	102724230	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr7:102724230A>G	ENST00000323716.3	+	3	738	c.346A>G	c.(346-348)Aga>Gga	p.R116G	ARMC10_ENST00000441711.2_Missense_Mutation_p.R81G|ARMC10_ENST00000454559.1_Missense_Mutation_p.R81G|ARMC10_ENST00000541300.1_Missense_Mutation_p.R81G|ARMC10_ENST00000428183.2_Missense_Mutation_p.R116G|ARMC10_ENST00000425331.1_Missense_Mutation_p.R81G	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	116					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATTATTGAAAGAGCTTTGAT	0.398																																																0													94	96	95					7																	102724230		2203	4300	6503	SO:0001583	missense	83787			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"Armadillo repeat containing"	21706	protein-coding gene	gene with protein product	"specific Splicing Variant involved in Hepatocarcinogenesis"	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.346A>G	chr7.hg19:g.102724230A>G	ENSP00000319412:p.Arg116Gly		A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP	ENST00000323716.3	hg19	CCDS5728.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017384	0.54576	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000441711;ENST00000454559;ENST00000425331;ENST00000541300;ENST00000434153	T;T;T;T;T;T;T	0.47869	1.5;1.6;1.5;1.6;1.5;1.6;0.83	5.28	4.11	0.48088	Armadillo-like helical (1);Armadillo-type fold (1);	0.413848	0.28209	N	0.016195	T	0.54464	0.1860	L	0.59436	1.845	0.23809	N	0.996789	P;B;B;D;P;P	0.58268	0.741;0.039;0.096;0.982;0.852;0.863	P;B;B;P;B;P	0.54889	0.497;0.05;0.073;0.763;0.436;0.627	T	0.47799	-0.9089	10	0.49607	T	0.09	-8.0575	9.962	0.41701	0.6711:0.3289:0.0:0.0	.	81;81;81;116;81;116	B4DWJ8;F5GX65;Q8N2F6-4;Q8N2F6-3;Q8N2F6-2;Q8N2F6	.;.;.;.;.;ARM10_HUMAN	G	116;116;81;81;81;81;116	ENSP00000319412:R116G;ENSP00000396654:R116G;ENSP00000413619:R81G;ENSP00000405612:R81G;ENSP00000397969:R81G;ENSP00000440463:R81G;ENSP00000398201:R116G	ENSP00000319412:R116G	R	+	1	2	ARMC10	102511466	0.988000	0.35896	0.991000	0.47740	0.941000	0.58515	1.811000	0.38942	0.948000	0.37687	0.456000	0.33151	AGA		0.398	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905		G	102724230	A	G	102724230	3	3	477	1	0	0	0	0	1	0	0	0	950	64	3	3	356	3	ARMC10	7	102724230	Missense_Mutation	SNP	A	TCGA-BQ-7051-01A-12D-1961-08		102724230	56414433	29	25848											
MLL3	58508	hgsc.bcm.edu	37	7	151880116	151880116	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr7:151880116delA	ENST00000262189.6	-	35	5426	c.5208delT	c.(5206-5208)tttfs	p.F1736fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.F1736fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1736	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAGGATCTTTAAAAAGCTCCG	0.343																																																0													216	218	217					7																	151880116		2203	4300	6503	SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5208delT	chr7.hg19:g.151880116delA	ENSP00000262189:p.Phe1736fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	hg19	CCDS5931.1																																																																																				0.343	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	151880116	A	-	151880116	7	5	477	1	0	1	0	1	0	0	0	0	9624	359	13	0	9627	0	MLL3	7	151880116	Frame_Shift_Del	DEL	A	TCGA-BQ-7051-01A-12D-1961-08	49155886	151880116	7258547	30	25849											
RP1	6101	hgsc.bcm.edu	37	8	55534829	55534829	+	Silent	SNP	A	A	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr8:55534829A>G	ENST00000220676.1	+	3	916	c.768A>G	c.(766-768)gcA>gcG	p.A256A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	256					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGGAAATGCAAAGTCAGAAA	0.403																																					Colon(91;1014 1389 7634 14542 40420)											0													78	80	80					8																	55534829		2203	4300	6503	SO:0001819	synonymous_variant	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.768A>G	chr8.hg19:g.55534829A>G				Silent	SNP	ENST00000220676.1	hg19	CCDS6160.1																																																																																				0.403	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		G	55534829	A	G	55534829	2	3	477	1	0	0	0	0	0	0	0	1	13538	117	5	3		3	RP1	8	55534829	Silent	SNP	A	TCGA-BQ-7051-01A-12D-1961-08		55534829	90829193	31	25850											
MATN2	4147	hgsc.bcm.edu	37	8	98943606	98943609	+	Frame_Shift_Del	DEL	CTAA	CTAA	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	CTAA	CTAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr8:98943606_98943609delCTAA	ENST00000520016.1	+	2	692_695	c.568_571delCTAA	c.(568-573)ctaatcfs	p.LI190fs	MATN2_ENST00000521689.1_Frame_Shift_Del_p.LI190fs|MATN2_ENST00000524308.1_Frame_Shift_Del_p.LI190fs|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Frame_Shift_Del_p.LI190fs			O00339	MATN2_HUMAN	matrilin 2	190	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CACGGGCATCCTAATCTTTGCCAT	0.559																																																0																																										SO:0001589	frameshift_variant	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.568_571delCTAA	chr8.hg19:g.98943606_98943609delCTAA	ENSP00000430487:p.Leu190fs		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Frame_Shift_Del	DEL	ENST00000520016.1	hg19	CCDS55264.1																																																																																				0.559	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			-	98943609	CTAA	-	98943606	7	5	477	1	0	1	0	1	0	0	0	0	9336	680	24	0	574	0	MATN2	8	98943606	Frame_Shift_Del	DEL	CTAA	TCGA-BQ-7051-01A-12D-1961-08	43408777	98943606	47420416	32	25851											
SLC45A4	57210	hgsc.bcm.edu	37	8	142238284	142238284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr8:142238284G>A	ENST00000024061.3	-	1	389	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	SLC45A4_ENST00000519067.1_Nonsense_Mutation_p.Q28*|SLC45A4_ENST00000517878.1_Intron|SLC45A4_ENST00000433583.2_Intron	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAACCTTTCTGAAGACTCCAT	0.537																																																0													191	177	181					8																	142238284		2203	4300	6503	SO:0001587	stop_gained	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.82C>T	chr8.hg19:g.142238284G>A	ENSP00000024061:p.Gln28*		Q6ZRI2|Q9ULU3	Nonsense_Mutation	SNP	ENST00000024061.3	hg19	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134082	0.77662	.	.	ENSG00000022567	ENST00000519067;ENST00000024061	.	.	.	1.79	-1.83	0.07833	.	0.589005	0.15260	U	0.271852	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.245	0.10667	0.1675:0.4643:0.3682:0.0	.	.	.	.	X	28	.	ENSP00000024061:Q28X	Q	-	1	0	SLC45A4	142307466	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.632000	0.02024	-0.542000	0.06249	0.556000	0.70494	CAG		0.537	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		A	142238284	G	A	142238284	4	1	477	1	0	0	0	0	0	1	0	0	14649	1299	45	2	2346	2	SLC45A4	8	142238284	Nonsense_Mutation	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	43294678	142238284	4125738	33	25852											
PITRM1	10531	hgsc.bcm.edu	37	10	3206029	3206029	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr10:3206029G>A	ENST00000224949.4	-	7	713	c.679C>T	c.(679-681)Cct>Tct	p.P227S	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.P227S|PITRM1_ENST00000451104.2_Missense_Mutation_p.P195S			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	227					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GTGTGGTCAGGAAGAAGTCTG	0.448																																																0													124	122	123					10																	3206029		1934	4132	6066	SO:0001583	missense	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.679C>T	chr10.hg19:g.3206029G>A	ENSP00000224949:p.Pro227Ser		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	hg19	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	19.62	3.860856	0.71834	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.31247	1.5;1.5;1.5	5.7	5.7	0.88788	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.927;0.947;1.0;0.998;0.998;0.998	T	0.70960	-0.4730	10	0.87932	D	0	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	220;195;227;227;227;220	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	S	227;220;227;195	ENSP00000224949:P227S;ENSP00000370377:P227S;ENSP00000401201:P195S	ENSP00000224949:P227S	P	-	1	0	PITRM1	3196029	1.000000	0.71417	0.997000	0.53966	0.075000	0.17131	9.162000	0.94745	2.698000	0.92095	0.655000	0.94253	CCT		0.448	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			A	3206029	G	A	3206029	3	1	477	1	0	0	0	0	1	0	0	0	11955	1174	41	2	2518	2	PITRM1	10	3206029	Missense_Mutation	SNP	G	TCGA-BQ-7051-01A-12D-1961-08		3206029	132328718	34	25853											
NCOA4	8031	hgsc.bcm.edu	37	10	51586276	51586276	+	Silent	SNP	A	A	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr10:51586276A>T	ENST00000443446.1	+	9	1933	c.1704A>T	c.(1702-1704)gtA>gtT	p.V568V	NCOA4_ENST00000344348.6_Silent_p.V568V|NCOA4_ENST00000430396.2_Silent_p.V468V|NCOA4_ENST00000374082.1_Missense_Mutation_p.Y523F|NCOA4_ENST00000414907.2_Silent_p.V402V|NCOA4_ENST00000374087.4_Silent_p.V568V|NCOA4_ENST00000438493.1_Silent_p.V584V|NCOA4_ENST00000452682.1_Silent_p.V584V	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	568					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGCAGGAAGTATTACTTAATT	0.398			T	RET	papillary thyroid																																		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	0													114	111	112					10																	51586276		2203	4300	6503	SO:0001819	synonymous_variant	8031			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1704A>T	chr10.hg19:g.51586276A>T			A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	hg19	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	3.664	-0.068949	0.07228	.	.	ENSG00000138293	ENST00000374082	T	0.26223	1.75	5.41	1.78	0.24846	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29181	-1.0020	6	0.02654	T	1	-2.9612	2.9009	0.05705	0.482:0.309:0.077:0.132	.	.	.	.	F	523	ENSP00000363195:Y523F	ENSP00000363195:Y523F	Y	+	2	0	NCOA4	51256282	0.994000	0.37717	0.999000	0.59377	0.958000	0.62258	0.292000	0.19011	0.141000	0.18875	0.533000	0.62120	TAT		0.398	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		T	51586276	A	T	51586276	2	4	477	1	0	0	0	0	0	0	0	1	10233	436	16	5		5	NCOA4	10	51586276	Silent	SNP	A	TCGA-BQ-7051-01A-12D-1961-08	48380247	51586276	83948471	35	25854											
PTEN	5728	hgsc.bcm.edu	37	10	89717669	89717669	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr10:89717669A>G	ENST00000371953.3	+	7	2051	c.694A>G	c.(694-696)Aca>Gca	p.T232A	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	232	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCAGGACCCACACGACGGGA	0.423		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	48	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(1)|Unknown(1)	prostate(16)|central_nervous_system(10)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											155	133	140					10																	89717669		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.694A>G	chr10.hg19:g.89717669A>G	ENSP00000361021:p.Thr232Ala		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	hg19	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.030305	0.35797	.	.	ENSG00000171862	ENST00000371953	D	0.85773	-2.03	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.158008	0.56097	D	0.000030	T	0.74711	0.3752	N	0.25647	0.755	0.51482	D	0.999926	B	0.16802	0.019	B	0.16289	0.015	T	0.68519	-0.5387	9	.	.	.	-10.0511	10.8662	0.46856	0.8504:0.0:0.0:0.1496	.	232	P60484	PTEN_HUMAN	A	232	ENSP00000361021:T232A	.	T	+	1	0	PTEN	89707649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.612000	0.67681	1.928000	0.55862	0.477000	0.44152	ACA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89717669	A	G	89717669	3	3	477	1	0	0	0	0	1	0	0	0	12743	159	6	3	720	3	PTEN	10	89717669	Missense_Mutation	SNP	A	TCGA-BQ-7051-01A-12D-1961-08	38131393	89717669	45817078	36	25855											
DRD4	1815	hgsc.bcm.edu	37	11	639919	639919	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:639919G>A	ENST00000176183.5	+	3	682	c.670G>A	c.(670-672)Gtg>Atg	p.V224M		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	224					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	GCGCTGGGAGGTGGCACGTCG	0.741																																																0													30	23	25					11																	639919		2194	4290	6484	SO:0001583	missense	1815			L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"GPCR / Class A : Dopamine receptors"	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.670G>A	chr11.hg19:g.639919G>A	ENSP00000176183:p.Val224Met		B0M0J7|Q7Z7Q5|Q8NGM5	Missense_Mutation	SNP	ENST00000176183.5	hg19	CCDS7710.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506330	0.44558	.	.	ENSG00000069696	ENST00000176183	T	0.37915	1.17	2.79	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.391968	0.24476	N	0.038200	T	0.30916	0.0780	.	.	.	0.24791	N	0.992753	P	0.47604	0.898	B	0.42138	0.377	T	0.14811	-1.0459	9	0.56958	D	0.05	.	10.3373	0.43858	0.0:0.2038:0.7962:0.0	.	224	P21917	DRD4_HUMAN	M	224	ENSP00000176183:V224M	ENSP00000176183:V224M	V	+	1	0	DRD4	629919	1.000000	0.71417	0.365000	0.25901	0.758000	0.43043	4.570000	0.60872	0.461000	0.27071	0.313000	0.20887	GTG		0.741	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		A	639919	G	A	639919	3	1	477	1	0	0	0	0	1	0	0	0	4761	1261	44	2	680	2	DRD4	11	639919	Missense_Mutation	SNP	G	TCGA-BQ-7051-01A-12D-1961-08		639919	134366597	37	25856											
OR4A16	81327	hgsc.bcm.edu	37	11	55110978	55110978	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:55110978T>C	ENST00000314721.2	+	1	352	c.302T>C	c.(301-303)aTa>aCa	p.I101T		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CAGCTCTTCATAGAACACTTA	0.443																																																0													203	189	193					11																	55110978		2201	4296	6497	SO:0001583	missense	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.302T>C	chr11.hg19:g.55110978T>C	ENSP00000325128:p.Ile101Thr		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	hg19	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	t	0.119	-1.128496	0.01756	.	.	ENSG00000181961	ENST00000314721	T	0.00864	5.6	2.57	1.45	0.22620	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00906	0.0030	L	0.39085	1.19	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.46317	-0.9200	9	0.20519	T	0.43	.	5.5053	0.16850	0.0:0.1562:0.0:0.8438	.	101	Q8NH70	O4A16_HUMAN	T	101	ENSP00000325128:I101T	ENSP00000325128:I101T	I	+	2	0	OR4A16	54867554	0.000000	0.05858	0.009000	0.14445	0.018000	0.09664	0.028000	0.13644	1.186000	0.42985	0.346000	0.21813	ATA		0.443	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		C	55110978	T	C	55110978	3	2	477	1	0	0	0	0	1	0	0	0	11043	1406	49	3	304	3	OR4A16	11	55110978	Missense_Mutation	SNP	T	TCGA-BQ-7051-01A-12D-1961-08	54471059	55110978	79895538	38	25857											
PAK1	5058	hgsc.bcm.edu	37	11	77047284	77047284	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:77047284delT	ENST00000356341.3	-	13	1791	c.1260delA	c.(1258-1260)aaafs	p.K420fs	PAK1_ENST00000530617.1_Frame_Shift_Del_p.K420fs|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Frame_Shift_Del_p.K322fs|PAK1_ENST00000278568.4_Frame_Shift_Del_p.K420fs	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	420	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TGGTGCTCCGTTTGCTCTGCT	0.473																																																0													148	145	146					11																	77047284		2200	4292	6492	SO:0001589	frameshift_variant	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1260delA	chr11.hg19:g.77047284delT	ENSP00000348696:p.Lys420fs		O75561|Q13567|Q32M53|Q32M54|Q86W79	Frame_Shift_Del	DEL	ENST00000356341.3	hg19	CCDS8250.1																																																																																				0.473	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		-	77047284	T	-	77047284	7	5	477	1	0	1	0	1	0	0	0	0	11401	1722	60	0	442	0	PAK1	11	77047284	Frame_Shift_Del	DEL	T	TCGA-BQ-7051-01A-12D-1961-08	21936306	77047284	57959232	39	25858											
UBE4A	9354	hgsc.bcm.edu	37	11	118250228	118250228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:118250228C>T	ENST00000431736.2	+	11	1732	c.1660C>T	c.(1660-1662)Cag>Tag	p.Q554*	UBE4A_ENST00000252108.3_Nonsense_Mutation_p.Q547*|UBE4A_ENST00000545354.1_Nonsense_Mutation_p.Q19*					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCGGGATGCTCAGCAAAGTTC	0.493																																																0													107	101	103					11																	118250228		2200	4296	6496	SO:0001587	stop_gained	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1660C>T	chr11.hg19:g.118250228C>T	ENSP00000387362:p.Gln554*			Nonsense_Mutation	SNP	ENST00000431736.2	hg19	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	40	8.417745	0.98803	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2921	19.4627	0.94924	0.0:1.0:0.0:0.0	.	.	.	.	X	547;554;19	.	ENSP00000252108:Q547X	Q	+	1	0	UBE4A	117755438	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.588000	0.87417	0.655000	0.94253	CAG		0.493	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		T	118250228	C	T	118250228	4	4	477	1	0	0	0	0	0	1	0	0	16887	827	29	2	1698	2	UBE4A	11	118250228	Nonsense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	41202944	118250228	16756288	40	25859											
NLRX1	79671	hgsc.bcm.edu	37	11	119044337	119044337	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:119044337C>T	ENST00000409109.1	+	5	966	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000409991.1_Missense_Mutation_p.P127S|NLRX1_ENST00000409265.4_Missense_Mutation_p.P127S|NLRX1_ENST00000292199.2_Missense_Mutation_p.P127S|NLRX1_ENST00000525863.1_Missense_Mutation_p.P127S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	127	Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACTTCGCCCACCCGCGGAGCT	0.667																																																0													43	44	44					11																	119044337		2200	4295	6495	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.379C>T	chr11.hg19:g.119044337C>T	ENSP00000387334:p.Pro127Ser		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	hg19	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.139675	0.00335	.	.	ENSG00000160703	ENST00000454811;ENST00000449394;ENST00000422249;ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T;T;T;T	0.69561	1.73;1.73;1.17;-0.31;-0.31;-0.41;-0.31;-0.41	5.6	-7.76	0.01232	.	1.215480	0.05625	N	0.580711	T	0.32406	0.0828	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.13953	-1.0490	10	0.18710	T	0.47	.	3.4574	0.07521	0.0971:0.1552:0.1941:0.5535	.	127;127	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	127	ENSP00000400268:P127S;ENSP00000402801:P127S;ENSP00000402381:P127S;ENSP00000386851:P127S;ENSP00000292199:P127S;ENSP00000386858:P127S;ENSP00000387334:P127S;ENSP00000433442:P127S	ENSP00000292199:P127S	P	+	1	0	NLRX1	118549547	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.553000	0.06012	-1.611000	0.01581	-0.459000	0.05422	CCC		0.667	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		T	119044337	C	T	119044337	3	4	477	1	0	0	0	0	1	0	0	0	10487	507	18	2	393	2	NLRX1	11	119044337	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	794109	119044337	15962179	41	25860											
TRIM29	23650	hgsc.bcm.edu	37	11	119988941	119988941	+	Silent	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:119988941G>A	ENST00000341846.5	-	7	2038	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	TRIM29_ENST00000529044.1_Silent_p.F278F|TRIM29_ENST00000528870.1_Silent_p.F72F|TRIM29_ENST00000524816.3_Silent_p.F105F|TRIM29_ENST00000541857.1_Silent_p.F272F|TRIM29_ENST00000525887.1_5'UTR	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	539					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTTTCAGGGAGAAGGAGGAGC	0.592																																																0													100	85	90					11																	119988941		2199	4295	6494	SO:0001819	synonymous_variant	23650			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1617C>T	chr11.hg19:g.119988941G>A			Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	hg19	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	G	9.447	1.089611	0.20390	.	.	ENSG00000137699	ENST00000525327;ENST00000524956	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	T	0.69187	0.3083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68135	-0.5489	4	.	.	.	.	13.87	0.63612	0.0:0.0:1.0:0.0	.	.	.	.	F	132;77	.	.	L	-	1	0	TRIM29	119494151	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.287000	0.51732	2.343000	0.79666	0.407000	0.27541	CTC		0.592	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		A	119988941	G	A	119988941	2	1	477	1	0	0	0	0	0	0	0	1	16508	933	33	2		2	TRIM29	11	119988941	Silent	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	944604	119988941	15017575	42	25861											
FKBP4	2288	hgsc.bcm.edu	37	12	2909052	2909052	+	Silent	SNP	A	A	G	rs201311104		TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:2909052A>G	ENST00000001008.4	+	6	895	c.708A>G	c.(706-708)caA>caG	p.Q236Q	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	236	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			AAAAGTTCCAAATCCCACCAA	0.438																																																0													86	89	88					12																	2909052		2203	4300	6503	SO:0001819	synonymous_variant	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.708A>G	chr12.hg19:g.2909052A>G			D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	ENST00000001008.4	hg19	CCDS8512.1																																																																																				0.438	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			G	2909052	A	G	2909052	2	3	477	1	0	0	0	0	0	0	0	1	5912	11	1	3		3	FKBP4	12	2909052	Silent	SNP	A	TCGA-BQ-7051-01A-12D-1961-08		2909052	130942843	43	25862											
DPPA3	359787	hgsc.bcm.edu	37	12	7867786	7867786	+	Silent	SNP	T	T	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:7867786T>A	ENST00000345088.2	+	2	207	c.90T>A	c.(88-90)tcT>tcA	p.S30S		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	30					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAGGGGCCTCTCAAATCTCCT	0.468																																																0													122	136	131					12																	7867786		2203	4300	6503	SO:0001819	synonymous_variant	359787			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.90T>A	chr12.hg19:g.7867786T>A			Q0P5U3|Q6JZS6	Silent	SNP	ENST00000345088.2	hg19	CCDS8582.1																																																																																				0.468	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		A	7867786	T	A	7867786	2	1	477	1	0	0	0	0	0	0	0	1	4737	1538	54	5		5	DPPA3	12	7867786	Silent	SNP	T	TCGA-BQ-7051-01A-12D-1961-08	4958734	7867786	125984109	44	25863											
CNTN1	1272	hgsc.bcm.edu	37	12	41323760	41323760	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:41323760A>G	ENST00000551295.2	+	7	776	c.659A>G	c.(658-660)aAg>aGg	p.K220R	CNTN1_ENST00000360099.3_Missense_Mutation_p.K220R|CNTN1_ENST00000547849.1_Missense_Mutation_p.K220R|CNTN1_ENST00000547702.1_Missense_Mutation_p.K220R|CNTN1_ENST00000347616.1_Missense_Mutation_p.K220R|CNTN1_ENST00000348761.2_Missense_Mutation_p.K209R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	220	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCTATTACAAAGAGCGTGTTC	0.383																																																0													174	169	171					12																	41323760		2203	4300	6503	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.659A>G	chr12.hg19:g.41323760A>G	ENSP00000447006:p.Lys220Arg		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	hg19	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.375898	0.61735	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.39	5.39	0.77823	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.78534	0.4298	L	0.53671	1.685	0.58432	D	0.99999	P;P;D	0.53151	0.61;0.948;0.958	B;P;P	0.53593	0.298;0.611;0.73	T	0.77059	-0.2728	10	0.33141	T	0.24	.	15.7149	0.77661	1.0:0.0:0.0:0.0	.	220;209;220	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	R	220;220;220;220;220;209	ENSP00000448004:K220R;ENSP00000447006:K220R;ENSP00000448653:K220R;ENSP00000325660:K220R;ENSP00000353213:K220R;ENSP00000261160:K209R	ENSP00000325660:K220R	K	+	2	0	CNTN1	39610027	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.180000	0.69256	0.533000	0.62120	AAG		0.383	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		G	41323760	A	G	41323760	3	3	477	1	0	0	0	0	1	0	0	0	3642	72	3	3	681	3	CNTN1	12	41323760	Missense_Mutation	SNP	A	TCGA-BQ-7051-01A-12D-1961-08	33455974	41323760	92528135	45	25864											
ADAMTS20	80070	hgsc.bcm.edu	37	12	43823478	43823478	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:43823478delA	ENST00000389420.3	-	24	3430	c.3431delT	c.(3430-3432)ttafs	p.L1145fs	ADAMTS20_ENST00000395541.2_Intron|ADAMTS20_ENST00000553158.1_Frame_Shift_Del_p.L1145fs	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1145					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTTGGTAATAAAGCGGTCTC	0.343																																																0													60	56	57					12																	43823478		2203	4298	6501	SO:0001589	frameshift_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3431delT	chr12.hg19:g.43823478delA	ENSP00000374071:p.Leu1145fs		A6NNC9|J3QT00	Frame_Shift_Del	DEL	ENST00000389420.3	hg19	CCDS31778.2																																																																																				0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		-	43823478	A	-	43823478	7	5	477	1	0	1	0	1	0	0	0	0	266	372	13	0	2364	0	ADAMTS20	12	43823478	Frame_Shift_Del	DEL	A	TCGA-BQ-7051-01A-12D-1961-08	2499718	43823478	90028417	46	25865											
CCNT1	904	hgsc.bcm.edu	37	12	49087909	49087909	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:49087909G>T	ENST00000261900.3	-	9	1310	c.1088C>A	c.(1087-1089)tCc>tAc	p.S363Y		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	363					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CTGTGGTAAGGAATGATCAAC	0.458																																																0													177	170	172					12																	49087909		2203	4300	6503	SO:0001583	missense	904			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1088C>A	chr12.hg19:g.49087909G>T	ENSP00000261900:p.Ser363Tyr		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	hg19	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543525	0.45280	.	.	ENSG00000129315	ENST00000261900	T	0.52057	0.68	5.49	4.54	0.55810	.	0.669254	0.16281	N	0.221349	T	0.44623	0.1302	N	0.22421	0.69	0.37399	D	0.912769	D	0.63880	0.993	P	0.50440	0.641	T	0.52815	-0.8525	10	0.56958	D	0.05	-7.9232	14.673	0.68958	0.0:0.1463:0.8536:0.0	.	363	O60563	CCNT1_HUMAN	Y	363	ENSP00000261900:S363Y	ENSP00000261900:S363Y	S	-	2	0	CCNT1	47374176	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.968000	0.56809	2.587000	0.87381	0.491000	0.48974	TCC		0.458	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		T	49087909	G	T	49087909	3	4	477	1	0	0	0	0	1	0	0	0	2936	1174	41	4	1096	4	CCNT1	12	49087909	Missense_Mutation	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	5264431	49087909	84763986	47	25866											
FREM2	341640	hgsc.bcm.edu	37	13	39450406	39450406	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr13:39450406T>G	ENST00000280481.7	+	20	8647	c.8431T>G	c.(8431-8433)Tat>Gat	p.Y2811D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2811					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCAGGGACCTATACTGTGAA	0.448																																																0													124	112	116					13																	39450406		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8431T>G	chr13.hg19:g.39450406T>G	ENSP00000280481:p.Tyr2811Asp		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712772	0.68730	.	.	ENSG00000150893	ENST00000280481	T	0.47528	0.84	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.79769	-0.1664	10	0.87932	D	0	.	15.9477	0.79806	0.0:0.0:0.0:1.0	.	2811	Q5SZK8	FREM2_HUMAN	D	2811	ENSP00000280481:Y2811D	ENSP00000280481:Y2811D	Y	+	1	0	FREM2	38348406	1.000000	0.71417	0.984000	0.44739	0.366000	0.29705	7.967000	0.87967	2.179000	0.69175	0.460000	0.39030	TAT		0.448	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		G	39450406	T	G	39450406	3	3	477	1	0	0	0	0	1	0	0	0	6047	1522	53	5	8509	5	FREM2	13	39450406	Missense_Mutation	SNP	T	TCGA-BQ-7051-01A-12D-1961-08		39450406	75719472	48	25867											
KBTBD6	89890	hgsc.bcm.edu	37	13	41705610	41705612	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	CAC	CAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr13:41705610_41705612delCAC	ENST00000379485.1	-	1	1270_1272	c.1036_1038delGTG	c.(1036-1038)gtgdel	p.V346del	KBTBD6_ENST00000499385.2_In_Frame_Del_p.V280del	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	346										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CAAAGAAGATCACCATCTCCTTG	0.527																																																0																																										SO:0001651	inframe_deletion	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1036_1038delGTG	chr13.hg19:g.41705610_41705612delCAC	ENSP00000368799:p.Val346del		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	In_Frame_Del	DEL	ENST00000379485.1	hg19	CCDS9376.1																																																																																				0.527	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		-	41705612	CAC	-	41705610	7	5	477	1	0	1	0	1	0	0	0	0	7999	813	29	0	990	0	KBTBD6	13	41705610	In_Frame_Del	DEL	CAC	TCGA-BQ-7051-01A-12D-1961-08	2255204	41705610	73464268	49	25868											
TEP1	7011	hgsc.bcm.edu	37	14	20845481	20845481	+	Silent	SNP	G	G	A	rs375172392		TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr14:20845481G>A	ENST00000262715.5	-	41	6086	c.6046C>T	c.(6046-6048)Cta>Tta	p.L2016L	TEP1_ENST00000556935.1_Silent_p.L1908L|TEP1_ENST00000545983.1_Silent_p.L354L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2016					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCAGTCCTAGCACAGGCTTC	0.507																																																0													36	36	36					14																	20845481		2203	4300	6503	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6046C>T	chr14.hg19:g.20845481G>A			A0AUV9	Silent	SNP	ENST00000262715.5	hg19	CCDS9548.1																																																																																				0.507	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		A	20845481	G	A	20845481	2	1	477	1	0	0	0	0	0	0	0	1	15764	962	34	2		2	TEP1	14	20845481	Silent	SNP	G	TCGA-BQ-7051-01A-12D-1961-08		20845481	86504059	50	25869											
PNP	4860	hgsc.bcm.edu	37	14	20944608	20944608	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr14:20944608C>T	ENST00000361505.5	+	6	864	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						TGGCTTCTCACTCATCACTAA	0.458																																																0													150	128	135					14																	20944608		2203	4300	6503	SO:0001583	missense	4860				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"nucleoside phosphorylase"	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.718C>T	chr14.hg19:g.20944608C>T	ENSP00000354532:p.Leu240Phe			Missense_Mutation	SNP	ENST00000361505.5	hg19	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542982	0.86022	.	.	ENSG00000198805	ENST00000361505	D	0.88046	-2.33	4.88	4.88	0.63580	Nucleoside phosphorylase domain (1);	0.064044	0.64402	D	0.000003	D	0.93762	0.8006	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94473	0.7686	10	0.72032	D	0.01	-21.5214	16.9641	0.86281	0.0:1.0:0.0:0.0	.	240	P00491	PNPH_HUMAN	F	240	ENSP00000354532:L240F	ENSP00000354532:L240F	L	+	1	0	PNP	20014448	0.999000	0.42202	0.994000	0.49952	0.951000	0.60555	4.327000	0.59247	2.528000	0.85240	0.655000	0.94253	CTC		0.458	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		T	20944608	C	T	20944608	3	4	477	1	0	0	0	0	1	0	0	0	12165	565	20	2	740	2	PNP	14	20944608	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	99127	20944608	86404932	51	25870											
RNF31	55072	hgsc.bcm.edu	37	14	24626550	24626550	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr14:24626550C>T	ENST00000324103.6	+	15	2865	c.2545C>T	c.(2545-2547)Cgc>Tgc	p.R849C	RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.R324C|RNF31_ENST00000559275.1_Missense_Mutation_p.R698C|RNF31_ENST00000382687.3_Missense_Mutation_p.R698C|RNA5SP383_ENST00000362934.1_RNA	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	849					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GAACTGGAAACGCATGAACGA	0.567																																																0													75	81	79					14																	24626550		1988	4157	6145	SO:0001583	missense	55072			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2545C>T	chr14.hg19:g.24626550C>T	ENSP00000315112:p.Arg849Cys		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	hg19	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997602	0.54147	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.77877	-1.13;-1.13	5.34	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.85296	0.5664	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.951;0.996;0.998	D	0.86555	0.1837	10	0.87932	D	0	-19.6302	12.2841	0.54783	0.308:0.692:0.0:0.0	.	849;608;849;698	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	C	282;849;698	ENSP00000315112:R849C;ENSP00000372134:R698C	ENSP00000315112:R849C	R	+	1	0	RNF31	23696390	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	0.675000	0.25232	1.467000	0.48044	-0.203000	0.12734	CGC		0.567	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		T	24626550	C	T	24626550	3	4	477	1	0	0	0	0	1	0	0	0	13493	536	19	1	2603	1	RNF31	14	24626550	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	3681942	24626550	82722990	52	25871											
KIAA0391	9692	hgsc.bcm.edu	37	14	35592664	35592664	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr14:35592664T>G	ENST00000557565.1	+	2	594	c.213T>G	c.(211-213)gaT>gaG	p.D71E	KIAA0391_ENST00000603544.1_Missense_Mutation_p.D71E|KIAA0391_ENST00000250377.7_De_novo_Start_OutOfFrame|KIAA0391_ENST00000321130.10_Missense_Mutation_p.D71E|KIAA0391_ENST00000605870.1_Intron|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000534898.4_Missense_Mutation_p.D71E|KIAA0391_ENST00000603588.1_Intron|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000604948.1_Intron	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	71					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCAGGAAAGATGAGGGCAGTA	0.408																																																0													65	62	63					14																	35592664		2203	4300	6503	SO:0001583	missense	9692			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.213T>G	chr14.hg19:g.35592664T>G	ENSP00000454657:p.Asp71Glu		B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	hg19	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	T	2.705	-0.270055	0.05716	.	.	ENSG00000100890	ENST00000321130;ENST00000534898;ENST00000556121	T;T	0.40756	1.03;1.02	5.25	-5.42	0.02640	.	0.854894	0.10131	N	0.712121	T	0.21509	0.0518	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18116	-1.0347	10	0.25751	T	0.34	-0.2169	6.1442	0.20276	0.2948:0.0:0.2418:0.4635	.	71;71	O15091-2;O15091	.;MRRP3_HUMAN	E	71	ENSP00000324697:D71E;ENSP00000440915:D71E	ENSP00000324697:D71E	D	+	3	2	KIAA0391	34662415	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.292000	0.08332	-1.164000	0.02790	-1.783000	0.00646	GAT		0.408	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		G	35592664	T	G	35592664	3	3	477	1	0	0	0	0	1	0	0	0	8174	1461	51	5	215	5	KIAA0391	14	35592664	Missense_Mutation	SNP	T	TCGA-BQ-7051-01A-12D-1961-08	10966114	35592664	71756876	53	25872											
VTI1B	10490	hgsc.bcm.edu	37	14	68118141	68118141	+	Silent	SNP	C	C	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr14:68118141C>T	ENST00000554659.1	-	6	1001	c.660G>A	c.(658-660)ctG>ctA	p.L220L	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	220					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		CCAGGCCTCCCAGGATGGCGA	0.453																																																0													69	71	70					14																	68118141		2203	4300	6503	SO:0001819	synonymous_variant	10490			AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.660G>A	chr14.hg19:g.68118141C>T			O43547|Q96J28	Silent	SNP	ENST00000554659.1	hg19	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801303	0.70567	.	.	ENSG00000100568	ENST00000554636	.	.	.	6.17	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6819	0.28518	0.1315:0.7266:0.0:0.1419	.	.	.	.	X	98	.	.	W	-	2	0	VTI1B	67187894	0.123000	0.22298	1.000000	0.80357	0.996000	0.88848	-0.529000	0.06186	1.560000	0.49568	0.655000	0.94253	TGG		0.453	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2			T	68118141	C	T	68118141	2	4	477	1	0	0	0	0	0	0	0	1	17241	581	21	2		2	VTI1B	14	68118141	Silent	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	32525477	68118141	39231399	54	25873											
COX5A	9377	hgsc.bcm.edu	37	15	75221461	75221461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr15:75221461delA	ENST00000322347.6	-	2	366	c.213delT	c.(211-213)cgtfs	p.R71fs	COX5A_ENST00000568783.1_Frame_Shift_Del_p.R71fs|COX5A_ENST00000567270.1_Intron|COX5A_ENST00000568517.1_5'UTR|COX5A_ENST00000562233.1_Frame_Shift_Del_p.R71fs|COX5A_ENST00000564811.1_Frame_Shift_Del_p.R71fs	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	71					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|pancreas(1)	3						AATTACCTTTACGCAATTCCC	0.413																																																0													140	129	133					15																	75221461		2197	4295	6492	SO:0001589	frameshift_variant	9377			M22760	CCDS10273.1	15q25	2011-07-04			ENSG00000178741	ENSG00000178741	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2267	protein-coding gene	gene with protein product		603773				10072584, 2853101	Standard	NM_004255		Approved		uc002azi.4	P20674	OTTHUMG00000142825	ENST00000322347.6:c.213delT	chr15.hg19:g.75221461delA	ENSP00000317780:p.Arg71fs		P30045|Q8TB65	Frame_Shift_Del	DEL	ENST00000322347.6	hg19	CCDS10273.1																																																																																				0.413	COX5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286417.1	NM_004255		-	75221461	A	-	75221461	7	5	477	1	0	1	0	1	0	0	0	0	3774	378	14	0	251	0	COX5A	15	75221461	Frame_Shift_Del	DEL	A	TCGA-BQ-7051-01A-12D-1961-08		75221461	27309931	55	25874											
SIN3A	25942	hgsc.bcm.edu	37	15	75664533	75664533	+	Silent	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr15:75664533G>A	ENST00000394947.3	-	21	3923	c.3609C>T	c.(3607-3609)agC>agT	p.S1203S	RP11-817O13.8_ENST00000563278.1_lincRNA|SIN3A_ENST00000394949.4_Silent_p.S1203S|SIN3A_ENST00000360439.4_Silent_p.S1203S	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GTAGACGCTTGCTTACACGCT	0.433																																																0													109	105	106					15																	75664533		2197	4294	6491	SO:0001819	synonymous_variant	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3609C>T	chr15.hg19:g.75664533G>A				Silent	SNP	ENST00000394947.3	hg19	CCDS10279.1																																																																																				0.433	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		A	75664533	G	A	75664533	2	1	477	1	0	0	0	0	0	0	0	1	14331	1310	46	2		2	SIN3A	15	75664533	Silent	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	443072	75664533	26866859	56	25875											
C15orf42	90381	hgsc.bcm.edu	37	15	90138745	90138745	+	Silent	SNP	T	T	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr15:90138745T>C	ENST00000268138.7	+	7	1908	c.1803T>C	c.(1801-1803)gaT>gaC	p.D601D	TICRR_ENST00000560985.1_Silent_p.D600D			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	601					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCAGTCCGGATGTGGCTGGGG	0.443																																																0													112	107	108					15																	90138745		1888	4113	6001	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1803T>C	chr15.hg19:g.90138745T>C			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	hg19	CCDS10352.2																																																																																				0.443	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		C	90138745	T	C	90138745	2	2	477	1	0	0	0	0	0	0	0	1	1798	1461	51	3		3	C15orf42	15	90138745	Silent	SNP	T	TCGA-BQ-7051-01A-12D-1961-08	14474212	90138745	12392647	57	25876											
SLC46A1	113235	hgsc.bcm.edu	37	17	26731859	26731859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr17:26731859delC	ENST00000440501.1	-	2	951	c.856delG	c.(856-858)gacfs	p.D286fs	SLC46A1_ENST00000321666.5_Frame_Shift_Del_p.D286fs|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.2_ENST00000580714.1_RNA|CTD-2350C19.1_ENST00000583956.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	286					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GTTAAGATGTCCTGGGCCCCA	0.542																																																0													109	118	115					17																	26731859		2022	4180	6202	SO:0001589	frameshift_variant	113235			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"Solute carriers"	30521	protein-coding gene	gene with protein product	"heme carrier protein 1", "proton-coupled folate transporter"	611672	"solute carrier family 46, member 1"			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.856delG	chr17.hg19:g.26731859delC	ENSP00000395653:p.Asp286fs		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Frame_Shift_Del	DEL	ENST00000440501.1	hg19																																																																																					0.542	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		-	26731859	C	-	26731859	7	5	477	1	0	1	0	1	0	0	0	0	14650	855	30	0	540	0	SLC46A1	17	26731859	Frame_Shift_Del	DEL	C	TCGA-BQ-7051-01A-12D-1961-08		26731859	54463351	58	25877											
SPAG5	10615	hgsc.bcm.edu	37	17	26911390	26911390	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr17:26911390A>G	ENST00000321765.5	-	12	2602	c.2270T>C	c.(2269-2271)cTc>cCc	p.L757P		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	757	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AAGCTGGCAGAGTAACTCATC	0.522																																																0													218	200	206					17																	26911390		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2270T>C	chr17.hg19:g.26911390A>G	ENSP00000323300:p.Leu757Pro		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	hg19	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.998487	0.54147	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	6.02	6.02	0.97574	.	0.363685	0.23744	N	0.044981	T	0.64394	0.2594	L	0.34521	1.04	0.48901	D	0.999721	D	0.76494	0.999	D	0.66497	0.944	T	0.65030	-0.6267	9	0.49607	T	0.09	-0.4993	12.9338	0.58303	1.0:0.0:0.0:0.0	.	757	Q96R06	SPAG5_HUMAN	P	757;254	.	ENSP00000323300:L757P	L	-	2	0	SPAG5	23935517	0.987000	0.35691	1.000000	0.80357	0.573000	0.36030	4.247000	0.58750	2.304000	0.77564	0.528000	0.53228	CTC		0.522	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		G	26911390	A	G	26911390	3	3	477	1	0	0	0	0	1	0	0	0	14987	304	11	3	1363	3	SPAG5	17	26911390	Missense_Mutation	SNP	A	TCGA-BQ-7051-01A-12D-1961-08	179531	26911390	54283820	59	25878											
KRT27	342574	hgsc.bcm.edu	37	17	38938378	38938378	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr17:38938378A>G	ENST00000301656.3	-	1	408	c.368T>C	c.(367-369)tTt>tCt	p.F123S		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACCAGGTCCAAATTTCTCATA	0.498																																																0													154	135	141					17																	38938378		2203	4300	6503	SO:0001583	missense	342574			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.368T>C	chr17.hg19:g.38938378A>G	ENSP00000301656:p.Phe123Ser			Missense_Mutation	SNP	ENST00000301656.3	hg19	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	A	6.807	0.517981	0.13005	.	.	ENSG00000171446	ENST00000301656	D	0.87729	-2.29	5.66	1.89	0.25635	Filament (1);	0.279078	0.31290	N	0.007902	T	0.74030	0.3663	N	0.12182	0.205	0.30019	N	0.814529	B	0.13145	0.007	B	0.15870	0.014	T	0.67496	-0.5656	10	0.49607	T	0.09	.	10.0469	0.42192	0.5272:0.0:0.0:0.4728	.	123	Q7Z3Y8	K1C27_HUMAN	S	123	ENSP00000301656:F123S	ENSP00000301656:F123S	F	-	2	0	KRT27	36191904	0.001000	0.12720	0.987000	0.45799	0.444000	0.32077	0.662000	0.25038	0.449000	0.26747	-0.344000	0.07964	TTT		0.498	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		G	38938378	A	G	38938378	3	3	477	1	0	0	0	0	1	0	0	0	8466	14	1	3	1043	3	KRT27	17	38938378	Missense_Mutation	SNP	A	TCGA-BQ-7051-01A-12D-1961-08	12026988	38938378	42256832	60	25879											
HEXDC	284004	hgsc.bcm.edu	37	17	80382347	80382347	+	Silent	SNP	T	T	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr17:80382347T>C	ENST00000327949.9	+	2	173	c.162T>C	c.(160-162)ccT>ccC	p.P54P	HEXDC_ENST00000577944.1_Silent_p.P54P|HEXDC_ENST00000337014.6_Silent_p.P54P			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	54					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACGAGGGCCCTCTGAGGCTGC	0.612																																																0													97	92	94					17																	80382347		1940	4131	6071	SO:0001819	synonymous_variant	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.162T>C	chr17.hg19:g.80382347T>C			B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	hg19																																																																																					0.612	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		C	80382347	T	C	80382347	2	2	477	1	0	0	0	0	0	0	0	1	7077	1538	54	3		3	HEXDC	17	80382347	Silent	SNP	T	TCGA-BQ-7051-01A-12D-1961-08	41443969	80382347	812863	61	25880											
C18orf55	29090	hgsc.bcm.edu	37	18	71816322	71816322	+	Silent	SNP	C	C	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr18:71816322C>G	ENST00000169551.6	+	1	577	c.279C>G	c.(277-279)acC>acG	p.T93T	FBXO15_ENST00000269500.5_5'Flank|TIMM21_ENST00000580087.1_Silent_p.T93T|FBXO15_ENST00000419743.2_5'Flank	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	93					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											GAGGGGGAACCGCCGTCCCAA	0.498																																																0													57	58	58					18																	71816322		2203	4300	6503	SO:0001819	synonymous_variant	29090			BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"chromosome 18 open reading frame 55"	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.279C>G	chr18.hg19:g.71816322C>G			Q9P010	Silent	SNP	ENST00000169551.6	hg19	CCDS12003.1																																																																																				0.498	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		G	71816322	C	G	71816322	2	3	477	1	0	0	0	0	0	0	0	1	1907	639	23	4		4	C18orf55	18	71816322	Silent	SNP	C	TCGA-BQ-7051-01A-12D-1961-08		71816322	6260926	62	25881											
STXBP2	6813	hgsc.bcm.edu	37	19	7712265	7712265	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:7712265A>T	ENST00000221283.5	+	18	1595	c.1564A>T	c.(1564-1566)Aac>Tac	p.N522Y	STXBP2_ENST00000441779.2_Missense_Mutation_p.N533Y|STXBP2_ENST00000414284.2_Missense_Mutation_p.N519Y|STXBP2_ENST00000602355.1_Missense_Mutation_p.N57Y	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	522					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGGCACAAGAACAAGGCTGG	0.662																																																0													24	33	30					19																	7712265		2192	4284	6476	SO:0001583	missense	6813			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1564A>T	chr19.hg19:g.7712265A>T	ENSP00000221283:p.Asn522Tyr		B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	hg19	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846916	0.71603	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.80480	-1.38;-1.38;-1.38	5.26	4.18	0.49190	.	0.112112	0.64402	D	0.000017	D	0.82761	0.5107	L	0.55481	1.735	0.44611	D	0.997588	P;P;P;P	0.48407	0.91;0.91;0.889;0.91	P;P;P;P	0.55161	0.689;0.77;0.562;0.689	D	0.84034	0.0361	10	0.72032	D	0.01	-1.3267	10.063	0.42286	0.8312:0.1688:0.0:0.0	.	533;488;519;522	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	Y	522;519;533;522	ENSP00000221283:N522Y;ENSP00000409471:N519Y;ENSP00000413606:N533Y	ENSP00000221283:N522Y	N	+	1	0	STXBP2	7618265	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	5.775000	0.68915	2.003000	0.58678	0.454000	0.30748	AAC		0.662	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		T	7712265	A	T	7712265	3	4	477	1	0	0	0	0	1	0	0	0	15358	246	9	5	1634	5	STXBP2	19	7712265	Missense_Mutation	SNP	A	TCGA-BQ-7051-01A-12D-1961-08		7712265	51416718	63	25882											
DOCK6	57572	hgsc.bcm.edu	37	19	11312640	11312640	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:11312640C>A	ENST00000294618.7	-	44	5624	c.5613G>T	c.(5611-5613)aaG>aaT	p.K1871N	DOCK6_ENST00000319867.7_Missense_Mutation_p.K1210N|DOCK6_ENST00000586702.1_5'UTR|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1871	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGTCTTACGCTTGTGTTGCT	0.637																																																0													75	82	80					19																	11312640		2150	4243	6393	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5613G>T	chr19.hg19:g.11312640C>A	ENSP00000294618:p.Lys1871Asn		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	hg19	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205580	0.79127	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.20200	2.09;2.09	4.98	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.90082	3.085	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.988;0.99;0.997	T	0.49153	-0.8969	10	0.87932	D	0	-31.2742	7.885	0.29644	0.0:0.7188:0.0:0.2812	.	1210;1871;1210	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	N	1871;1210	ENSP00000294618:K1871N;ENSP00000321556:K1210N	ENSP00000294618:K1871N	K	-	3	2	DOCK6	11173640	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.212000	0.32394	0.478000	0.27488	0.491000	0.48974	AAG		0.637	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		A	11312640	C	A	11312640	3	1	477	1	0	0	0	0	1	0	0	0	4693	796	28	4	550	4	DOCK6	19	11312640	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	3600375	11312640	47816343	64	25883											
DOCK6	57572	hgsc.bcm.edu	37	19	11312680	11312680	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:11312680G>C	ENST00000294618.7	-	44	5584	c.5573C>G	c.(5572-5574)cCg>cGg	p.P1858R	DOCK6_ENST00000319867.7_Missense_Mutation_p.P1197R|DOCK6_ENST00000586702.1_5'UTR|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1858	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGCCCATCCGGCGTGAACGG	0.597																																																0													85	91	89					19																	11312680		2135	4244	6379	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5573C>G	chr19.hg19:g.11312680G>C	ENSP00000294618:p.Pro1858Arg		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	hg19	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	4.448	0.083033	0.08533	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.16457	2.34;2.34	4.84	3.8	0.43715	.	0.164262	0.43747	D	0.000521	T	0.09686	0.0238	N	0.20986	0.625	0.34097	D	0.661381	B;B;B	0.23058	0.026;0.079;0.055	B;B;B	0.32149	0.017;0.141;0.064	T	0.19063	-1.0317	10	0.07325	T	0.83	-15.5866	5.6208	0.17455	0.2773:0.0:0.7227:0.0	.	1197;1858;1197	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	R	1858;1197	ENSP00000294618:P1858R;ENSP00000321556:P1197R	ENSP00000294618:P1858R	P	-	2	0	DOCK6	11173680	1.000000	0.71417	0.710000	0.30468	0.153000	0.21895	5.138000	0.64795	2.213000	0.71641	0.491000	0.48974	CCG		0.597	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		C	11312680	G	C	11312680	3	2	477	1	0	0	0	0	1	0	0	0	4693	1116	39	4	590	4	DOCK6	19	11312680	Missense_Mutation	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	40	11312680	47816303	65	25884											
OR7A17	26333	hgsc.bcm.edu	37	19	14991895	14991895	+	Silent	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:14991895G>A	ENST00000327462.2	-	1	369	c.273C>T	c.(271-273)gtC>gtT	p.V91V		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CATAGGTGATGACTCTGCTCT	0.468																																																0													151	131	138					19																	14991895		2203	4300	6503	SO:0001819	synonymous_variant	26333			X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.273C>T	chr19.hg19:g.14991895G>A			Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	hg19	CCDS12319.1																																																																																				0.468	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		A	14991895	G	A	14991895	2	1	477	1	0	0	0	0	0	0	0	1	11217	1277	45	2		2	OR7A17	19	14991895	Silent	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	3679215	14991895	44137088	66	25885											
USHBP1	83878	hgsc.bcm.edu	37	19	17362478	17362478	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:17362478C>G	ENST00000252597.3	-	12	2008	c.1835G>C	c.(1834-1836)cGc>cCc	p.R612P	AC010646.3_ENST00000594059.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.R548P	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CAGCTCCCTGCGCAGAGACTG	0.602																																																0													75	74	74					19																	17362478		2203	4300	6503	SO:0001583	missense	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1835G>C	chr19.hg19:g.17362478C>G	ENSP00000252597:p.Arg612Pro			Missense_Mutation	SNP	ENST00000252597.3	hg19	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	5.320	0.244414	0.10077	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.19250	2.17;2.16	4.28	1.98	0.26296	.	0.610995	0.13794	N	0.362329	T	0.19927	0.0479	L	0.57536	1.79	0.09310	N	1	P;P	0.45240	0.854;0.854	B;B	0.43301	0.415;0.415	T	0.13845	-1.0494	10	0.49607	T	0.09	-11.2307	4.0967	0.09995	0.234:0.6445:0.0:0.1215	.	548;612	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	P	612;548	ENSP00000252597:R612P;ENSP00000407902:R548P	ENSP00000252597:R612P	R	-	2	0	USHBP1	17223478	0.000000	0.05858	0.005000	0.12908	0.023000	0.10783	0.206000	0.17375	2.108000	0.64289	0.561000	0.74099	CGC		0.602	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		G	17362478	C	G	17362478	3	3	477	1	0	0	0	0	1	0	0	0	17042	768	27	4	284	4	USHBP1	19	17362478	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	2370583	17362478	41766505	67	25886											
CRTC1	23373	hgsc.bcm.edu	37	19	18876245	18876245	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:18876245C>G	ENST00000321949.8	+	9	944	c.918C>G	c.(916-918)caC>caG	p.H306Q	CRTC1_ENST00000338797.6_Missense_Mutation_p.H322Q|CRTC1_ENST00000594658.1_Missense_Mutation_p.H265Q|CRTC1_ENST00000601916.1_Missense_Mutation_p.H231Q	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CTCCACAGCACCGCCCAGCTG	0.622																																																0													131	128	129					19																	18876245		2203	4300	6503	SO:0001583	missense	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.918C>G	chr19.hg19:g.18876245C>G	ENSP00000323332:p.His306Gln			Missense_Mutation	SNP	ENST00000321949.8	hg19	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	4.850	0.158062	0.09236	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.11495	2.77;2.77	4.23	3.18	0.36537	.	0.533386	0.19393	N	0.115375	T	0.07548	0.0190	L	0.46157	1.445	0.41761	D	0.989719	P;B;B	0.35348	0.496;0.284;0.112	B;B;B	0.27608	0.081;0.071;0.037	T	0.22208	-1.0223	10	0.17832	T	0.49	-19.0333	7.3343	0.26601	0.0:0.7971:0.0:0.2029	.	306;322;306	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	Q	306;322;306	ENSP00000345001:H322Q;ENSP00000323332:H306Q	ENSP00000262813:H306Q	H	+	3	2	CRTC1	18737245	0.713000	0.27926	0.992000	0.48379	0.498000	0.33706	0.107000	0.15375	2.077000	0.62373	0.561000	0.74099	CAC		0.622	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		G	18876245	C	G	18876245	3	3	477	1	0	0	0	0	1	0	0	0	3901	506	18	4	1004	4	CRTC1	19	18876245	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	1513767	18876245	40252738	68	25887											
ZNF253	56242	hgsc.bcm.edu	37	19	20003291	20003291	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:20003291C>T	ENST00000589717.1	+	4	1327	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F	AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.S336F|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	412				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAATCCTCTCCAAACATAAA	0.388																																																0													39	43	42					19																	20003291		2087	4250	6337	SO:0001583	missense	56242			AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"Zinc fingers, C2H2-type", "-"	13497	protein-coding gene	gene with protein product		606954	"zinc finger protein 411"	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.1235C>T	chr19.hg19:g.20003291C>T	ENSP00000468720:p.Ser412Phe		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	hg19	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	c	3.372	-0.128115	0.06753	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25938	0.0632	L	0.35542	1.07	0.09310	N	1	P	0.34562	0.457	B	0.39299	0.296	T	0.21415	-1.0246	7	.	.	.	.	3.9875	0.09522	0.409:0.591:0.0:0.0	.	412	O75346	ZN253_HUMAN	F	412	.	.	S	+	2	0	ZNF253	19864291	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.021000	0.13489	0.293000	0.22520	0.298000	0.19748	TCC		0.388	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		T	20003291	C	T	20003291	3	4	477	1	0	0	0	0	1	0	0	0	17802	855	30	2	1249	2	ZNF253	19	20003291	Missense_Mutation	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	1127046	20003291	39125692	69	25888											
ZNF471	57573	hgsc.bcm.edu	37	19	57037192	57037192	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:57037192T>C	ENST00000308031.5	+	5	1889	c.1756T>C	c.(1756-1758)Tgt>Cgt	p.C586R	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TAGCTCATCCTGTGCTCAGCA	0.408																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											0													78	74	75					19																	57037192		2203	4300	6503	SO:0001583	missense	57573			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1756T>C	chr19.hg19:g.57037192T>C	ENSP00000309161:p.Cys586Arg		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	hg19	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	T	4.114	0.019231	0.08006	.	.	ENSG00000196263	ENST00000308031	T	0.00949	5.51	3.68	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00724	0.0024	N	0.11789	0.175	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.45498	-0.9257	9	0.87932	D	0	.	9.1979	0.37240	0.0:0.4048:0.0:0.5952	.	586	Q9BX82	ZN471_HUMAN	R	586	ENSP00000309161:C586R	ENSP00000309161:C586R	C	+	1	0	ZNF471	61729004	0.000000	0.05858	0.017000	0.16124	0.514000	0.34195	-1.549000	0.02182	-0.322000	0.08615	-0.464000	0.05259	TGT		0.408	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		C	57037192	T	C	57037192	3	2	477	1	0	0	0	0	1	0	0	0	17935	1580	55	3	1770	3	ZNF471	19	57037192	Missense_Mutation	SNP	T	TCGA-BQ-7051-01A-12D-1961-08	37033901	57037192	2091791	70	25889											
PTPRT	11122	hgsc.bcm.edu	37	20	41100970	41100970	+	Silent	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr20:41100970G>A	ENST00000373187.1	-	8	1385	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	PTPRT_ENST00000356100.2_Silent_p.L462L|PTPRT_ENST00000373198.4_Silent_p.L462L|PTPRT_ENST00000373201.1_Silent_p.L462L|PTPRT_ENST00000373193.3_Silent_p.L462L|PTPRT_ENST00000373184.1_Silent_p.L462L|PTPRT_ENST00000373190.1_Silent_p.L462L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	462	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAGACAGCAAGAGTCGCAGCC	0.612																																																0													57	62	60					20																	41100970		2134	4245	6379	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1386C>T	chr20.hg19:g.41100970G>A			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	hg19	CCDS42874.1																																																																																				0.612	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			A	41100970	G	A	41100970	2	1	477	1	0	0	0	0	0	0	0	1	12818	929	33	2		2	PTPRT	20	41100970	Silent	SNP	G	TCGA-BQ-7051-01A-12D-1961-08		41100970	21924550	71	25890											
ZGPAT	84619	hgsc.bcm.edu	37	20	62366823	62366823	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr20:62366823T>C	ENST00000328969.5	+	6	1491	c.1364T>C	c.(1363-1365)cTg>cCg	p.L455P	ZGPAT_ENST00000369967.3_Missense_Mutation_p.L435P|ZGPAT_ENST00000448100.2_Missense_Mutation_p.L435P|LIME1_ENST00000309546.3_5'Flank|RP4-583P15.14_ENST00000467211.1_5'Flank|ZGPAT_ENST00000357119.4_Missense_Mutation_p.L426P|ZGPAT_ENST00000355969.6_Missense_Mutation_p.L435P|RP4-583P15.15_ENST00000490623.2_Nonstop_Mutation_p.*341R	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	455					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AAGCGGGCCCTGAGCCTGCGG	0.667																																																0													23	27	26					20																	62366823		2200	4300	6500	SO:0001583	missense	84619			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1364T>C	chr20.hg19:g.62366823T>C	ENSP00000332013:p.Leu455Pro		E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	hg19	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234362	0.79800	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.32988	1.45;1.45;1.47;1.45;1.43	5.69	4.57	0.56435	.	0.072010	0.56097	D	0.000022	T	0.53738	0.1815	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.54490	-0.8286	10	0.52906	T	0.07	-25.847	11.8041	0.52143	0.1318:0.0:0.0:0.8682	.	426;455;435	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	P	435;435;426;435;455	ENSP00000391176:L435P;ENSP00000348242:L435P;ENSP00000349634:L426P;ENSP00000358984:L435P;ENSP00000332013:L455P	ENSP00000332013:L455P	L	+	2	0	ZGPAT	61837267	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.891000	0.69782	0.955000	0.37878	0.460000	0.39030	CTG		0.667	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		C	62366823	T	C	62366823	3	2	477	1	0	0	0	0	1	0	0	0	17679	1580	55	3	1382	3	ZGPAT	20	62366823	Missense_Mutation	SNP	T	TCGA-BQ-7051-01A-12D-1961-08	21265853	62366823	658697	72	25891											
SFI1	9814	hgsc.bcm.edu	37	22	32002357	32002357	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr22:32002357G>C	ENST00000400288.2	+	21	2203	c.2098G>C	c.(2098-2100)Gat>Cat	p.D700H	SFI1_ENST00000414585.1_Missense_Mutation_p.D547H|SFI1_ENST00000432498.1_Missense_Mutation_p.D669H|SFI1_ENST00000400289.1_Missense_Mutation_p.D618H|SFI1_ENST00000443011.1_Missense_Mutation_p.D547H|SFI1_ENST00000443326.1_Missense_Mutation_p.D618H|SFI1_ENST00000540643.1_Missense_Mutation_p.D645H	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	700					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGCCCGAGTGGATGAAGCCAA	0.517																																																0													88	88	88					22																	32002357		2023	4185	6208	SO:0001583	missense	9814			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2098G>C	chr22.hg19:g.32002357G>C	ENSP00000383145:p.Asp700His		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	hg19	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	G	8.780	0.928003	0.18131	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.14266	3.1;3.1;2.94;2.93;2.93;2.94;3.1;2.52	5.06	0.509	0.16977	.	0.751926	0.13001	N	0.421651	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.42757	0.789;0.603;0.603;0.789;0.573	P;B;B;P;B	0.49922	0.626;0.366;0.277;0.626;0.366	T	0.28364	-1.0046	10	0.40728	T	0.16	.	6.8814	0.24174	0.4019:0.0:0.5981:0.0	.	645;618;618;669;700	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	H	669;645;618;547;547;618;700;283	ENSP00000402679:D669H;ENSP00000443025:D645H;ENSP00000416469:D618H;ENSP00000397148:D547H;ENSP00000401199:D547H;ENSP00000383146:D618H;ENSP00000383145:D700H;ENSP00000398871:D283H	ENSP00000383145:D700H	D	+	1	0	SFI1	30332357	0.001000	0.12720	0.033000	0.17914	0.025000	0.11179	0.187000	0.16998	0.237000	0.21200	-0.995000	0.02519	GAT		0.517	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		C	32002357	G	C	32002357	3	2	477	1	0	0	0	0	1	0	0	0	14162	1174	41	4	2176	4	SFI1	22	32002357	Missense_Mutation	SNP	G	TCGA-BQ-7051-01A-12D-1961-08		32002357	19302209	73	25892											
C1QTNF6	114904	hgsc.bcm.edu	37	22	37578251	37578251	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr22:37578251G>C	ENST00000337843.2	-	3	889	c.814C>G	c.(814-816)Ctc>Gtc	p.L272V	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.L272V|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.L148V|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	253					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GCCTTGATGAGGTGGCCGCTG	0.657																																																0													61	57	58					22																	37578251		2203	4300	6503	SO:0001583	missense	114904			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.814C>G	chr22.hg19:g.37578251G>C	ENSP00000338812:p.Leu272Val		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	hg19	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981527	0.74474	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.51574	0.7;0.7;0.7	4.84	4.84	0.62591	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.78444	0.4284	H	0.97265	3.97	0.58432	D	0.999997	D;D	0.76494	0.999;0.998	D;D	0.72075	0.976;0.971	D	0.85842	0.1398	10	0.87932	D	0	.	13.3544	0.60619	0.0787:0.0:0.9213:0.0	.	272;253	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	V	272;272;148	ENSP00000380299:L272V;ENSP00000338812:L272V;ENSP00000255836:L148V	ENSP00000255836:L148V	L	-	1	0	C1QTNF6	35908197	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.704000	0.68347	2.238000	0.73509	0.491000	0.48974	CTC		0.657	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		C	37578251	G	C	37578251	3	2	477	1	0	0	0	0	1	0	0	0	1969	1000	35	4	26	4	C1QTNF6	22	37578251	Missense_Mutation	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	5575894	37578251	13726315	74	25893											
ARFGAP3	26286	hgsc.bcm.edu	37	22	43213794	43213794	+	Silent	SNP	A	A	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr22:43213794A>G	ENST00000263245.5	-	10	1101	c.882T>C	c.(880-882)atT>atC	p.I294I	ARFGAP3_ENST00000437119.2_Silent_p.I250I|ARFGAP3_ENST00000429508.2_Silent_p.I222I	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	294					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TTTTGCCACtaatgttcatct	0.348																																					GBM(58;544 1030 21460 27159 48838)											0													296	266	276					22																	43213794		2203	4300	6503	SO:0001819	synonymous_variant	26286			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.882T>C	chr22.hg19:g.43213794A>G			E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Silent	SNP	ENST00000263245.5	hg19	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	A	7.151	0.583739	0.13749	.	.	ENSG00000242247	ENST00000453516	.	.	.	5.35	-2.94	0.05581	.	.	.	.	.	.	.	.	.	.	.	0.32559	N	0.531383	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.1118	4.5685	0.12198	0.2139:0.5126:0.1904:0.0831	.	.	.	.	Q	141	.	.	X	-	1	0	ARFGAP3	41543738	0.000000	0.05858	0.062000	0.19696	0.849000	0.48306	-0.717000	0.04986	-0.307000	0.08804	-0.291000	0.09656	TAG		0.348	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		G	43213794	A	G	43213794	2	3	477	1	0	0	0	0	0	0	0	1	851	358	13	3		3	ARFGAP3	22	43213794	Silent	SNP	A	TCGA-BQ-7051-01A-12D-1961-08	5635543	43213794	8090772	75	25894											
SYN1	6853	hgsc.bcm.edu	37	X	47432308	47432308	+	Silent	SNP	G	G	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chrX:47432308G>C	ENST00000295987.7	-	13	2197	c.2073C>G	c.(2071-2073)acC>acG	p.T691T	SYN1_ENST00000340666.4_3'UTR	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	691	E.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GGCTGCGGATGGTCTCAGCTT	0.582																																																0													108	91	97					X																	47432308		2203	4300	6503	SO:0001819	synonymous_variant	6853				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.2073C>G	chrX.hg19:g.47432308G>C			B1AJQ1|O75825|Q5H9A9	Silent	SNP	ENST00000295987.7	hg19	CCDS14280.1																																																																																				0.582	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950		C	47432308	G	C	47432308	2	2	477	1	0	0	0	0	0	0	0	1	15445	1335	47	4		4	SYN1	23	47432308	Silent	SNP	G	TCGA-BQ-7051-01A-12D-1961-08		47432308	107838252	76	25895											
HEPH	9843	hgsc.bcm.edu	37	X	65390505	65390505	+	Silent	SNP	C	C	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chrX:65390505C>T	ENST00000343002.2	+	1	757	c.93C>T	c.(91-93)ggC>ggT	p.G31G	HEPH_ENST00000519389.1_Silent_p.G85G|HEPH_ENST00000419594.1_Silent_p.G34G|HEPH_ENST00000441993.2_Silent_p.G34G|HEPH_ENST00000374727.3_Silent_p.G34G|HEPH_ENST00000336279.5_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	31	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ACTACCTGGGCATCCGGGATG	0.527																																																0													94	64	74					X																	65390505		2203	4300	6503	SO:0001819	synonymous_variant	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.93C>T	chrX.hg19:g.65390505C>T			B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	hg19																																																																																					0.527	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		T	65390505	C	T	65390505	2	4	477	1	0	0	0	0	0	0	0	1	7056	697	25	2		2	HEPH	23	65390505	Silent	SNP	C	TCGA-BQ-7051-01A-12D-1961-08	17958197	65390505	89880055	77	25896											
ARHGAP36	158763	hgsc.bcm.edu	37	X	130215818	130215818	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chrX:130215818G>A	ENST00000276211.5	+	2	524	c.179G>A	c.(178-180)cGt>cAt	p.R60H	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R48H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	60					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R60H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAGCTGGAGCGTCTGAAGCTG	0.532																																																1	Substitution - Missense(1)	large_intestine(1)											125	107	113					X																	130215818		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.179G>A	chrX.hg19:g.130215818G>A	ENSP00000276211:p.Arg60His		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	hg19	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358508	0.82243	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.28666	1.6;1.61;1.68	4.16	4.16	0.48862	.	0.000000	0.47455	D	0.000238	T	0.40886	0.1135	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.994	T	0.30387	-0.9980	10	0.87932	D	0	.	10.8111	0.46547	0.0:0.0:1.0:0.0	.	29;48;60	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	H	60;48;12;29	ENSP00000276211:R60H;ENSP00000359960:R48H;ENSP00000408515:R29H	ENSP00000276211:R60H	R	+	2	0	ARHGAP36	130043499	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.627000	0.67784	2.315000	0.78130	0.544000	0.68410	CGT		0.532	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		A	130215818	G	A	130215818	3	1	477	1	0	0	0	0	1	0	0	0	883	1145	40	1	181	1	ARHGAP36	23	130215818	Missense_Mutation	SNP	G	TCGA-BQ-7051-01A-12D-1961-08	64825313	130215818	25054742	78	25897											
MYSM1	114803	hgsc.bcm.edu	37	1	59125680	59125680	+	Silent	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr1:59125680A>G	ENST00000472487.1	-	20	2515	c.2476T>C	c.(2476-2478)Ttg>Ctg	p.L826L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	826					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CACATTAACAATTCCTTTGTA	0.299																																																0													77	75	76					1																	59125680		1805	4073	5878	SO:0001819	synonymous_variant	114803			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2476T>C	chr1.hg19:g.59125680A>G			A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Silent	SNP	ENST00000472487.1	hg19	CCDS41343.1																																																																																				0.299	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		G	59125680	A	G	59125680	2	3	478	1	0	0	0	0	0	0	0	1	10103	98	4	3		3	MYSM1	1	59125680	Silent	SNP	A	TCGA-BQ-7053-01A-11D-1961-08		59125680	190124941	1	25898											
TTN	7273	hgsc.bcm.edu	37	2	179611917	179611917	+	Intron	SNP	T	T	C	rs578160962		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr2:179611917T>C	ENST00000591111.1	-	46	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Silent_p.L5070L			Q8WZ42	TITIN_HUMAN	titin						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)			AGTATCTCTCTAGAGTCTCTC	0.522													T|||	1	0.000199681	0.0	0.0014	5008	,	,		15437	0.0		0.0	False		,,,				2504	0.0															0													70	74	72					2																	179611917		2203	4300	6503	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5269A>G	chr2.hg19:g.179611917T>C			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	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.522	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179611917	T	C	179611917	1	2	478	0	1	0	0	0	0	0	0	0	16740	1509	53	3		3	TTN	2	179611917	Intron	SNP	T	TCGA-BQ-7053-01A-11D-1961-08		179611917	63587456	2	25899											
PGAP1	80055	hgsc.bcm.edu	37	2	197767380	197767380	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr2:197767380C>T	ENST00000354764.4	-	5	850	c.736G>A	c.(736-738)Gat>Aat	p.D246N	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Missense_Mutation_p.D246N|PGAP1_ENST00000409188.1_Missense_Mutation_p.D204N	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	246					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACTTGGTAATCCCGGAATCCT	0.353																																																0													89	96	94					2																	197767380		2203	4300	6503	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.736G>A	chr2.hg19:g.197767380C>T	ENSP00000346809:p.Asp246Asn		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	hg19	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812990	0.90707	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	D;D;D	0.96491	-4.03;-4.03;-4.03	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.98585	0.9527	M	0.92122	3.275	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99628	1.0985	10	0.87932	D	0	-16.6327	18.3788	0.90443	0.0:1.0:0.0:0.0	.	204;246;246	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	N	246;246;204	ENSP00000346809:D246N;ENSP00000387028:D246N;ENSP00000386802:D204N	ENSP00000346809:D246N	D	-	1	0	PGAP1	197475625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.144000	0.64832	2.568000	0.86640	0.650000	0.86243	GAT		0.353	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		T	197767380	C	T	197767380	3	4	478	1	0	0	0	0	1	0	0	0	11779	855	30	2	2124	2	PGAP1	2	197767380	Missense_Mutation	SNP	C	TCGA-BQ-7053-01A-11D-1961-08	18155463	197767380	45431993	3	25900											
LRRFIP1	9208	hgsc.bcm.edu	37	2	238636568	238636568	+	Intron	SNP	G	G	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr2:238636568G>C	ENST00000392000.4	+	4	366				LRRFIP1_ENST00000308482.9_Missense_Mutation_p.R145T|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTGAATAGAAGATCTGGCAGG	0.318																																																0													204	199	201					2																	238636568		1568	3582	5150	SO:0001627	intron_variant	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.249+7103G>C	chr2.hg19:g.238636568G>C			E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	hg19	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945238	0.53079	.	.	ENSG00000124831	ENST00000308482;ENST00000391999;ENST00000420665	T	0.48201	0.82	5.3	4.2	0.49525	.	.	.	.	.	T	0.29288	0.0729	N	0.24115	0.695	0.80722	D	1	B	0.31318	0.319	B	0.32624	0.149	T	0.08207	-1.0733	9	0.23891	T	0.37	.	5.5337	0.16999	0.2308:0.0:0.7692:0.0	.	145	E9PGZ2	.	T	145;135;100	ENSP00000310109:R145T	ENSP00000310109:R145T	R	+	2	0	LRRFIP1	238301307	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.587000	0.53957	2.652000	0.90054	0.655000	0.94253	AGA		0.318	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		C	238636568	G	C	238636568	1	2	478	0	1	0	0	0	0	0	0	0	9029	942	33	4		4	LRRFIP1	2	238636568	Intron	SNP	G	TCGA-BQ-7053-01A-11D-1961-08	40869188	238636568	4562805	4	25901											
PRRT3	285368	hgsc.bcm.edu	37	3	9990555	9990555	+	Missense_Mutation	SNP	C	C	A	rs187203537		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:9990555C>A	ENST00000412055.1	-	3	1187	c.1058G>T	c.(1057-1059)cGg>cTg	p.R353L	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.R353L	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	353	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TCCTCTCACCCGCTGGGGGGA	0.592																																																0													59	65	63					3																	9990555		1927	4137	6064	SO:0001583	missense	285368			AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1058G>T	chr3.hg19:g.9990555C>A	ENSP00000392511:p.Arg353Leu		Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	hg19	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468603	0.84533	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.33654	1.66;1.4	5.17	5.17	0.71159	.	0.000000	0.50627	D	0.000103	T	0.48840	0.1522	L	0.36672	1.1	0.37495	D	0.916543	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.49204	-0.8964	9	.	.	.	-10.5905	14.1662	0.65477	0.0:1.0:0.0:0.0	.	353;353	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	L	353	ENSP00000392511:R353L;ENSP00000404512:R353L	.	R	-	2	0	PRRT3	9965555	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.604000	0.36804	2.403000	0.81681	0.655000	0.94253	CGG		0.592	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		A	9990555	C	A	9990555	3	1	478	1	0	0	0	0	1	0	0	0	12616	652	23	4	1895	4	PRRT3	3	9990555	Missense_Mutation	SNP	C	TCGA-BQ-7053-01A-11D-1961-08		9990555	188031875	5	25902											
VPRBP	9730	hgsc.bcm.edu	37	3	51457622	51457622	+	Silent	SNP	C	C	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:51457622C>G	ENST00000335891.5	-	7	1464	c.1455G>C	c.(1453-1455)cgG>cgC	p.R485R				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	934	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CCTGGGGGGGCCGTGGCTGAG	0.592																																																0													44	47	46					3																	51457622		1981	4163	6144	SO:0001819	synonymous_variant	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1455G>C	chr3.hg19:g.51457622C>G			Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	hg19																																																																																					0.592	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		G	51457622	C	G	51457622	2	3	478	1	0	0	0	0	0	0	0	1	17190	726	26	4		4	VPRBP	3	51457622	Silent	SNP	C	TCGA-BQ-7053-01A-11D-1961-08	41467067	51457622	146564808	6	25903											
GMPS	8833	hgsc.bcm.edu	37	3	155654202	155654202	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:155654202A>T	ENST00000496455.2	+	15	2218	c.1883A>T	c.(1882-1884)cAg>cTg	p.Q628L	GMPS_ENST00000295920.7_Missense_Mutation_p.Q529L	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	628					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CTTCAAAAGCAGCCTTCATGC	0.443			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													128	120	122					3																	155654202		1870	4103	5973	SO:0001583	missense	8833			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1883A>T	chr3.hg19:g.155654202A>T	ENSP00000419851:p.Gln628Leu		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	hg19	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524899	0.44969	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.53	5.53	0.82687	GMP synthase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	L	0.55990	1.75	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.53954	-0.8365	9	0.30854	T	0.27	-12.4699	15.6641	0.77213	1.0:0.0:0.0:0.0	.	529;628	F8W720;P49915	.;GUAA_HUMAN	L	628;529;577;628	.	ENSP00000295920:Q529L	Q	+	2	0	GMPS	157136896	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.800000	0.91900	2.086000	0.62901	0.459000	0.35465	CAG		0.443	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			T	155654202	A	T	155654202	3	4	478	1	0	0	0	0	1	0	0	0	6500	188	7	5	1941	5	GMPS	3	155654202	Missense_Mutation	SNP	A	TCGA-BQ-7053-01A-11D-1961-08	104196580	155654202	42368228	7	25904											
MAP3K13	9175	hgsc.bcm.edu	37	3	185146747	185146747	+	Silent	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:185146747C>T	ENST00000265026.3	+	2	712	c.378C>T	c.(376-378)ggC>ggT	p.G126G	MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Silent_p.G126G|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000443863.1_Intron	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CAGGCAGTGGCAGTGGTGGGT	0.493																																																0													93	94	94					3																	185146747		2203	4300	6503	SO:0001819	synonymous_variant	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.378C>T	chr3.hg19:g.185146747C>T				Silent	SNP	ENST00000265026.3	hg19	CCDS3270.1																																																																																				0.493	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		T	185146747	C	T	185146747	2	4	478	1	0	0	0	0	0	0	0	1	9249	697	25	2		2	MAP3K13	3	185146747	Silent	SNP	C	TCGA-BQ-7053-01A-11D-1961-08	29492545	185146747	12875683	8	25905											
WFS1	7466	hgsc.bcm.edu	37	4	6303094	6303094	+	Silent	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:6303094C>T	ENST00000226760.1	+	8	1742	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	WFS1_ENST00000503569.1_Silent_p.F524F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	524					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGAGGAATTTCAAGGGCACCT	0.597																																																0													119	105	109					4																	6303094		2203	4300	6503	SO:0001819	synonymous_variant	7466			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1572C>T	chr4.hg19:g.6303094C>T			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	hg19	CCDS3386.1																																																																																				0.597	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			T	6303094	C	T	6303094	2	4	478	1	0	0	0	0	0	0	0	1	17365	825	29	2		2	WFS1	4	6303094	Silent	SNP	C	TCGA-BQ-7053-01A-11D-1961-08		6303094	184851182	9	25906											
LRBA	987	hgsc.bcm.edu	37	4	151935707	151935707	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:151935707C>A	ENST00000357115.3	-	2	331	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W	LRBA_ENST00000535741.1_Missense_Mutation_p.G30W|LRBA_ENST00000507224.1_Missense_Mutation_p.G30W|LRBA_ENST00000510413.1_Missense_Mutation_p.G30W	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	30						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATGCACCCCCTTCAGTAGGG	0.537																																																0													63	53	56					4																	151935707		2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.88G>T	chr4.hg19:g.151935707C>A	ENSP00000349629:p.Gly30Trp		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	hg19	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529711	0.64860	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.56444	0.88;1.03;0.88;0.46	5.33	5.33	0.75918	.	1.239200	0.06405	U	0.719521	T	0.52386	0.1731	L	0.47716	1.5	0.37618	D	0.921196	P;P;P	0.49447	0.876;0.924;0.924	B;B;B	0.43360	0.219;0.417;0.391	T	0.50432	-0.8829	10	0.48119	T	0.1	.	11.3073	0.49342	0.0:0.9149:0.0:0.0851	.	30;30;30	P50851;Q6P1X2;P50851-2	LRBA_HUMAN;.;.	W	30	ENSP00000446299:G30W;ENSP00000421552:G30W;ENSP00000349629:G30W;ENSP00000422180:G30W	ENSP00000349629:G30W	G	-	1	0	LRBA	152155157	0.031000	0.19500	0.961000	0.40146	0.587000	0.36485	1.159000	0.31749	2.514000	0.84764	0.555000	0.69702	GGG		0.537	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			A	151935707	C	A	151935707	3	1	478	1	0	0	0	0	1	0	0	0	8933	681	24	4	8731	4	LRBA	4	151935707	Missense_Mutation	SNP	C	TCGA-BQ-7053-01A-11D-1961-08	145632613	151935707	39218569	10	25907											
TRIM2	23321	hgsc.bcm.edu	37	4	154237027	154237027	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:154237027delG	ENST00000437508.2	+	8	1778	c.1577delG	c.(1576-1578)cggfs	p.R526fs	TRIM2_ENST00000338700.5_Frame_Shift_Del_p.R553fs	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	526					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTTGGCATACGGGGACGCTCT	0.463																																																0													80	90	87					4																	154237027		2203	4300	6503	SO:0001589	frameshift_variant	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1577delG	chr4.hg19:g.154237027delG	ENSP00000415812:p.Arg526fs		D3DP09|O60272|Q9BSI9|Q9UFZ1	Frame_Shift_Del	DEL	ENST00000437508.2	hg19	CCDS47147.1																																																																																				0.463	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			-	154237027	G	-	154237027	7	5	478	1	0	1	0	1	0	0	0	0	16499	1116	39	0	1688	0	TRIM2	4	154237027	Frame_Shift_Del	DEL	G	TCGA-BQ-7053-01A-11D-1961-08	2301320	154237027	36917249	11	25908											
EGFLAM	133584	hgsc.bcm.edu	37	5	38407020	38407020	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:38407020A>G	ENST00000354891.3	+	8	1265	c.919A>G	c.(919-921)Agg>Ggg	p.R307G	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R73G|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R307G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	307					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACCATTTCTAGGCTCATCCC	0.483																																					Colon(62;485 1295 3347 17454)											0													155	147	149					5																	38407020		2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.919A>G	chr5.hg19:g.38407020A>G	ENSP00000346964:p.Arg307Gly		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	hg19	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.706602	0.30232	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.80123	0.77;0.6;-1.34	5.69	1.96	0.26148	.	0.293605	0.35320	N	0.003289	T	0.70263	0.3204	M	0.72118	2.19	0.09310	N	1	B;P;P	0.40834	0.196;0.611;0.73	B;B;B	0.32980	0.067;0.075;0.156	T	0.64833	-0.6314	10	0.52906	T	0.07	-20.3281	2.0497	0.03568	0.416:0.32:0.1499:0.114	.	73;307;307	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	G	307;307;73;73	ENSP00000346964:R307G;ENSP00000313084:R307G;ENSP00000337607:R73G	ENSP00000313084:R307G	R	+	1	2	EGFLAM	38442777	0.487000	0.25988	0.030000	0.17652	0.190000	0.23558	1.133000	0.31430	0.102000	0.17638	-0.256000	0.11100	AGG		0.483	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		G	38407020	A	G	38407020	3	3	478	1	0	0	0	0	1	0	0	0	4968	411	15	3	963	3	EGFLAM	5	38407020	Missense_Mutation	SNP	A	TCGA-BQ-7053-01A-11D-1961-08		38407020	142508240	12	25909											
XRCC4	7518	hgsc.bcm.edu	37	5	82406899	82406899	+	Silent	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:82406899G>T	ENST00000511817.1	+	3	272	c.192G>T	c.(190-192)ggG>ggT	p.G64G	XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Silent_p.G64G|XRCC4_ENST00000282268.3_Silent_p.G64G|XRCC4_ENST00000338635.6_Silent_p.G64G			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	64					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TGGAAAAAGGGAAATATGTTG	0.338								Non-homologous end-joining																																								0													98	95	96					5																	82406899		2203	4300	6503	SO:0001819	synonymous_variant	7518			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"X-ray repair, complementing defective, repair in Chinese hamster", "DNA repair protein XRCC4"	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.192G>T	chr5.hg19:g.82406899G>T			A8K3X4|Q9BS72|Q9UP94	Silent	SNP	ENST00000511817.1	hg19	CCDS4059.1																																																																																				0.338	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		T	82406899	G	T	82406899	2	4	478	1	0	0	0	0	0	0	0	1	17460	1161	41	4		4	XRCC4	5	82406899	Silent	SNP	G	TCGA-BQ-7053-01A-11D-1961-08	43999879	82406899	98508361	13	25910											
ERAP1	51752	hgsc.bcm.edu	37	5	96139212	96139212	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:96139212G>A	ENST00000443439.2	-	2	484	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	ERAP1_ENST00000296754.3_Missense_Mutation_p.L140F|CTD-2260A17.3_ENST00000606656.1_RNA|CTD-2260A17.3_ENST00000606346.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	140					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AGCCCGACAAGGAGGGGCTCG	0.557																																																0													63	70	68					5																	96139212		2203	4300	6503	SO:0001583	missense	51752			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.418C>T	chr5.hg19:g.96139212G>A	ENSP00000406304:p.Leu140Phe		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	hg19	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	G	4.542	0.100606	0.08731	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.02763	4.17;4.17	5.51	2.68	0.31781	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.757856	0.12763	N	0.441158	T	0.03564	0.0102	L	0.52011	1.625	0.09310	N	1	B;B	0.15719	0.014;0.004	B;B	0.23852	0.049;0.019	T	0.48456	-0.9034	10	0.11182	T	0.66	.	9.253	0.37566	0.0:0.2989:0.4675:0.2337	.	140;140	Q9NZ08;Q9NZ08-2	ERAP1_HUMAN;.	F	140	ENSP00000296754:L140F;ENSP00000406304:L140F	ENSP00000296754:L140F	L	-	1	0	ERAP1	96164968	0.156000	0.22821	0.002000	0.10522	0.010000	0.07245	0.894000	0.28350	0.243000	0.21327	0.561000	0.74099	CTT		0.557	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		A	96139212	G	A	96139212	3	1	478	1	0	0	0	0	1	0	0	0	5205	1000	35	2	2512	2	ERAP1	5	96139212	Missense_Mutation	SNP	G	TCGA-BQ-7053-01A-11D-1961-08	13732313	96139212	84776048	14	25911											
LY6G6F	259215	hgsc.bcm.edu	37	6	31677862	31677862	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr6:31677862A>T	ENST00000375832.4	+	4	728	c.706A>T	c.(706-708)Att>Ttt	p.I236F	LY6G6F_ENST00000556581.1_Missense_Mutation_p.I236F|MEGT1_ENST00000503322.1_Missense_Mutation_p.I236F|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CATGCCTTGGATTCTGATGCT	0.617																																																0													93	67	76					6																	31677862		1511	2708	4219	SO:0001583	missense	259215				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"Immunoglobulin superfamily / V-set domain containing"	13933	protein-coding gene	gene with protein product		611404	"chromosome 6 open reading frame 21"	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.706A>T	chr6.hg19:g.31677862A>T	ENSP00000364992:p.Ile236Phe		B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	hg19	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.015117	0.35511	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.26957	1.99;1.7;1.99	5.25	4.09	0.47781	.	0.098536	0.44688	D	0.000436	T	0.20981	0.0505	M	0.66939	2.045	0.32179	N	0.580661	D;P	0.54047	0.964;0.906	P;P	0.51101	0.659;0.546	T	0.12319	-1.0552	10	0.87932	D	0	-13.2059	7.687	0.28546	0.9038:0.0:0.0962:0.0	.	236;236	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	F	236	ENSP00000452432:I236F;ENSP00000364992:I236F;ENSP00000421232:I236F	ENSP00000364992:I236F	I	+	1	0	XXbac-BPG32J3.19;LY6G6F	31785841	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	1.214000	0.32419	0.844000	0.35094	0.477000	0.44152	ATT		0.617	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		T	31677862	A	T	31677862	3	4	478	1	0	0	0	0	1	0	0	0	9098	333	12	5	720	5	LY6G6F	6	31677862	Missense_Mutation	SNP	A	TCGA-BQ-7053-01A-11D-1961-08		31677862	139437205	15	25912											
GSTA2	2939	hgsc.bcm.edu	37	6	52617715	52617715	+	Missense_Mutation	SNP	T	T	A	rs200252041		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr6:52617715T>A	ENST00000493422.1	-	5	506	c.351A>T	c.(349-351)caA>caT	p.Q117H		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	117	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GCTTGGCATCTTGTTCCTCAG	0.393																																																0													240	229	233					6																	52617715		2203	4300	6503	SO:0001583	missense	2939			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.351A>T	chr6.hg19:g.52617715T>A	ENSP00000420168:p.Gln117His		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	hg19	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	t	10.44	1.349542	0.24426	.	.	ENSG00000244067	ENST00000493422	T	0.02067	4.47	2.26	2.26	0.28386	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.539313	0.17882	N	0.158839	T	0.01092	0.0036	L	0.31926	0.97	0.09310	N	1	B	0.28233	0.204	B	0.38056	0.264	T	0.45775	-0.9238	10	0.87932	D	0	.	8.464	0.32944	0.0:0.0:0.0:1.0	.	117	P09210	GSTA2_HUMAN	H	117	ENSP00000420168:Q117H	ENSP00000420168:Q117H	Q	-	3	2	GSTA2	52725674	0.000000	0.05858	0.030000	0.17652	0.008000	0.06430	-0.493000	0.06459	1.310000	0.45006	0.254000	0.18369	CAA		0.393	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		A	52617715	T	A	52617715	3	1	478	1	0	0	0	0	1	0	0	0	6833	1606	56	5	329	5	GSTA2	6	52617715	Missense_Mutation	SNP	T	TCGA-BQ-7053-01A-11D-1961-08	20939853	52617715	118497352	16	25913											
TMEM30A	55754	hgsc.bcm.edu	37	6	75975041	75975042	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr6:75975041_75975042delAT	ENST00000230461.6	-	3	687_688	c.358_359delAT	c.(358-360)atgfs	p.M120fs	TMEM30A_ENST00000370050.5_Start_Codon_Del|TMEM30A_ENST00000475111.2_Frame_Shift_Del_p.M84fs	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	120					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCATAATACATAAACACGTTG	0.327																																																0																																										SO:0001589	frameshift_variant	55754			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.358_359delAT	chr6.hg19:g.75975041_75975042delAT	ENSP00000230461:p.Met120fs		A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Frame_Shift_Del	DEL	ENST00000230461.6	hg19	CCDS4983.1																																																																																				0.327	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		-	75975042	AT	-	75975041	7	5	478	1	0	1	0	1	0	0	0	0	16158	217	8	0	746	0	TMEM30A	6	75975041	Frame_Shift_Del	DEL	AT	TCGA-BQ-7053-01A-11D-1961-08	23357326	75975041	95140026	17	25914											
SOBP	55084	hgsc.bcm.edu	37	6	107955224	107955224	+	Silent	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr6:107955224G>T	ENST00000317357.5	+	6	1835	c.1176G>T	c.(1174-1176)ccG>ccT	p.P392P		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ACCGCGGCCCGGTGCCGCTGC	0.672																																																0													63	70	68					6																	107955224		2018	4170	6188	SO:0001819	synonymous_variant	55084			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1176G>T	chr6.hg19:g.107955224G>T				Silent	SNP	ENST00000317357.5	hg19	CCDS43488.1																																																																																				0.672	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		T	107955224	G	T	107955224	2	4	478	1	0	0	0	0	0	0	0	1	14918	1103	39	4		4	SOBP	6	107955224	Silent	SNP	G	TCGA-BQ-7053-01A-11D-1961-08	31980183	107955224	63159843	18	25915											
CPVL	54504	hgsc.bcm.edu	37	7	29135764	29135764	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr7:29135764G>T	ENST00000409850.1	-	8	1004	c.358C>A	c.(358-360)Ctc>Atc	p.L120I	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Missense_Mutation_p.L120I|CPVL_ENST00000265394.5_Missense_Mutation_p.L120I			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	120						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCCACAAAGAGTCCAAACATG	0.468																																																0													177	165	169					7																	29135764		2203	4300	6503	SO:0001583	missense	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.358C>A	chr7.hg19:g.29135764G>T	ENSP00000387164:p.Leu120Ile		A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	hg19	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911407	0.92178	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959;ENST00000458405;ENST00000447426	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.85777	2.775	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	D	0.93612	0.6940	10	0.46703	T	0.11	-0.6878	18.7662	0.91874	0.0:0.0:1.0:0.0	.	120	Q9H3G5	CPVL_HUMAN	I	120;120;120;4;50;4;50	ENSP00000265394:L120I;ENSP00000379572:L120I;ENSP00000387164:L120I;ENSP00000409036:L50I;ENSP00000417015:L4I;ENSP00000395690:L50I	ENSP00000265394:L120I	L	-	1	0	CPVL	29102289	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	6.732000	0.74790	2.519000	0.84933	0.491000	0.48974	CTC		0.468	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		T	29135764	G	T	29135764	3	4	478	1	0	0	0	0	1	0	0	0	3837	1029	36	4	1112	4	CPVL	7	29135764	Missense_Mutation	SNP	G	TCGA-BQ-7053-01A-11D-1961-08		29135764	130002899	19	25916											
EIF3E	3646	hgsc.bcm.edu	37	8	109215296	109215296	+	Silent	SNP	A	A	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr8:109215296A>T	ENST00000220849.5	-	12	1277	c.1215T>A	c.(1213-1215)atT>atA	p.I405I	EIF3E_ENST00000519517.1_5'Flank|EIF3E_ENST00000519030.1_Silent_p.I312I	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TGGTCTTTTCAATCACTTGCT	0.393																																					GBM(15;360 410 8460 34179 52246)											0													157	141	147					8																	109215296		2203	4297	6500	SO:0001819	synonymous_variant	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.1215T>A	chr8.hg19:g.109215296A>T				Silent	SNP	ENST00000220849.5	hg19	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.431022	0.25726	.	.	ENSG00000104408	ENST00000522352	.	.	.	5.7	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.5683	7.9818	0.30188	0.8114:0.0:0.0671:0.1214	.	.	.	.	R	116	.	.	X	-	1	0	EIF3E	109284472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.959000	0.40412	0.964000	0.38108	0.477000	0.44152	TGA		0.393	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		T	109215296	A	T	109215296	2	4	478	1	0	0	0	0	0	0	0	1	5017	126	5	5		5	EIF3E	8	109215296	Silent	SNP	A	TCGA-BQ-7053-01A-11D-1961-08		109215296	37148726	20	25917											
CNTNAP3	79937	hgsc.bcm.edu	37	9	39140600	39140600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr9:39140600G>A	ENST00000297668.6	-	12	1865	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	CNTNAP3_ENST00000377659.1_Nonsense_Mutation_p.R598*|CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.R598*|CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.R510*|CNTNAP3_ENST00000323947.7_Nonsense_Mutation_p.R505*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	598	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGTTCCCTCGGTGCTTGTGG	0.468																																																0													38	44	42					9																	39140600		2203	4300	6503	SO:0001587	stop_gained	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1792C>T	chr9.hg19:g.39140600G>A	ENSP00000297668:p.Arg598*		B1AMA0|Q9C0E9	Nonsense_Mutation	SNP	ENST00000297668.6	hg19	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384365	0.82792	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	.	.	.	2.85	1.69	0.24217	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	7.9696	0.30119	0.0:0.0:0.2419:0.7581	.	.	.	.	X	598;598;510;505;598	.	ENSP00000297668:R598X	R	-	1	2	CNTNAP3	39130600	0.593000	0.26840	0.377000	0.26055	0.034000	0.12701	0.720000	0.25896	0.328000	0.23435	0.440000	0.28878	CGA		0.468	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		A	39140600	G	A	39140600	4	1	478	1	0	0	0	0	0	1	0	0	3650	1124	39	1	2126	1	CNTNAP3	9	39140600	Nonsense_Mutation	SNP	G	TCGA-BQ-7053-01A-11D-1961-08		39140600	102072831	21	25918											
INVS	27130	hgsc.bcm.edu	37	9	103059359	103059359	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr9:103059359C>A	ENST00000262457.2	+	15	3132	c.2947C>A	c.(2947-2949)Ccc>Acc	p.P983T	INVS_ENST00000541287.1_Missense_Mutation_p.P887T|INVS_ENST00000262456.2_Missense_Mutation_p.P813T	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	983					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AAGCAAGGCCCCCAAGAGTCC	0.498																																																0													89	83	85					9																	103059359		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2947C>A	chr9.hg19:g.103059359C>A	ENSP00000262457:p.Pro983Thr		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	hg19	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.983872	0.00443	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.38722	1.15;1.15;1.12	5.25	-0.716	0.11212	.	0.687064	0.14809	N	0.297151	T	0.16854	0.0405	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.13899	-1.0492	10	0.56958	D	0.05	.	3.4624	0.07537	0.1837:0.4859:0.231:0.0995	.	887;983;813	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	T	983;887;813	ENSP00000262457:P983T;ENSP00000444454:P887T;ENSP00000262456:P813T	ENSP00000262456:P813T	P	+	1	0	INVS	102099180	0.023000	0.18921	0.222000	0.23844	0.317000	0.28152	0.424000	0.21330	0.160000	0.19432	0.650000	0.86243	CCC		0.498	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		A	103059359	C	A	103059359	3	1	478	1	0	0	0	0	1	0	0	0	7789	623	22	4	3001	4	INVS	9	103059359	Missense_Mutation	SNP	C	TCGA-BQ-7053-01A-11D-1961-08	63918759	103059359	38154072	22	25919											
PRKG1	5592	hgsc.bcm.edu	37	10	53227571	53227571	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr10:53227571C>G	ENST00000401604.2	+	3	716	c.522C>G	c.(520-522)aaC>aaG	p.N174K	PRKG1_ENST00000373985.1_Missense_Mutation_p.N162K|PRKG1_ENST00000373980.4_Missense_Mutation_p.N189K			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	174	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTCTTTACAACTGTACCCGGA	0.383																																																0													154	141	145					10																	53227571		2203	4300	6503	SO:0001583	missense	5592				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.522C>G	chr10.hg19:g.53227571C>G	ENSP00000384200:p.Asn174Lys		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	hg19	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475767	0.84640	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	D;D;D;D	0.96940	-4.18;-4.18;-1.92;-1.92	5.79	4.89	0.63831	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.115539	0.56097	D	0.000027	D	0.97983	0.9336	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	0.983;1.0;0.998	P;D;D	0.75484	0.82;0.985;0.986	D	0.98576	1.0648	10	0.87932	D	0	-19.8616	12.5809	0.56390	0.0:0.9197:0.0:0.0803	.	174;189;174	B4DT93;Q13976-2;Q13976	.;.;KGP1_HUMAN	K	174;162;189;47	ENSP00000384200:N174K;ENSP00000363097:N162K;ENSP00000363092:N189K;ENSP00000363087:N47K	ENSP00000363087:N47K	N	+	3	2	PRKG1	52897577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.118000	0.31246	1.450000	0.47717	0.563000	0.77884	AAC		0.383	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	53227571	C	G	53227571	3	3	478	1	0	0	0	0	1	0	0	0	12527	564	20	4	847	4	PRKG1	10	53227571	Missense_Mutation	SNP	C	TCGA-BQ-7053-01A-11D-1961-08		53227571	82307176	23	25920											
CDH23	64072	hgsc.bcm.edu	37	10	73406335	73406335	+	Silent	SNP	C	C	T	rs549569431	byFrequency	TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr10:73406335C>T	ENST00000224721.6	+	13	1430	c.1425C>T	c.(1423-1425)taC>taT	p.Y475Y	CDH23_ENST00000299366.7_Silent_p.Y515Y|CDH23_ENST00000398809.4_Silent_p.Y470Y|CDH23_ENST00000398842.3_Silent_p.Y470Y|CDH23_ENST00000461841.3_Silent_p.Y515Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCAGCCTGTACGAGAACGTCA	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		19433	0.0		0.0	False		,,,				2504	0.002															0													160	169	166					10																	73406335		2132	4248	6380	SO:0001819	synonymous_variant	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1425C>T	chr10.hg19:g.73406335C>T			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	hg19																																																																																					0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73406335	C	T	73406335	2	4	478	1	0	0	0	0	0	0	0	1	3110	547	19	1		1	CDH23	10	73406335	Silent	SNP	C	TCGA-BQ-7053-01A-11D-1961-08	20178764	73406335	62128412	24	25921											
HNRNPUL2	221092	hgsc.bcm.edu	37	11	62491826	62491826	+	Missense_Mutation	SNP	C	C	A	rs577159200		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr11:62491826C>A	ENST00000301785.5	-	2	803	c.611G>T	c.(610-612)cGg>cTg	p.R204L	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.R204L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	204	Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTCTCATCCCGCTGTCTCTT	0.512																																																0													132	133	133					11																	62491826		1970	4165	6135	SO:0001583	missense	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.611G>T	chr11.hg19:g.62491826C>A	ENSP00000301785:p.Arg204Leu		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	hg19	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454369	0.84209	.	.	ENSG00000214753	ENST00000301785	T	0.65178	-0.14	4.9	4.9	0.64082	.	0.423150	0.24037	N	0.042138	T	0.68686	0.3028	L	0.36672	1.1	0.45284	D	0.998283	D	0.60160	0.987	D	0.65010	0.931	T	0.70974	-0.4726	10	0.72032	D	0.01	-11.7379	13.4322	0.61062	0.0:1.0:0.0:0.0	.	204	Q1KMD3	HNRL2_HUMAN	L	204	ENSP00000301785:R204L	ENSP00000301785:R204L	R	-	2	0	HNRNPUL2	62248402	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.879000	0.75572	2.547000	0.85894	0.655000	0.94253	CGG		0.512	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		A	62491826	C	A	62491826	3	1	478	1	0	0	0	0	1	0	0	0	7277	652	23	4	1684	4	HNRNPUL2	11	62491826	Missense_Mutation	SNP	C	TCGA-BQ-7053-01A-11D-1961-08		62491826	72514690	25	25922											
PC	5091	hgsc.bcm.edu	37	11	66636376	66636376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr11:66636376G>T	ENST00000393958.2	-	9	1056	c.963C>A	c.(961-963)taC>taA	p.Y321*	PC_ENST00000393955.2_Nonsense_Mutation_p.Y321*|PC_ENST00000524491.1_Nonsense_Mutation_p.Y281*|PC_ENST00000355677.3_Nonsense_Mutation_p.Y321*|PC_ENST00000393960.1_Nonsense_Mutation_p.Y321*	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	321	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCTCGATGAAGTAGTGCTTGC	0.677																																																0													90	79	83					11																	66636376		2200	4295	6495	SO:0001587	stop_gained	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.963C>A	chr11.hg19:g.66636376G>T	ENSP00000377530:p.Tyr321*		B4DN00|Q16705	Nonsense_Mutation	SNP	ENST00000393958.2	hg19	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	36	5.754004	0.96890	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	.	.	.	4.65	2.37	0.29283	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0017	6.9367	0.24470	0.3253:0.0:0.6747:0.0	.	.	.	.	X	321;321;321;281;321	.	ENSP00000347900:Y321X	Y	-	3	2	PC	66392952	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.978000	0.49305	0.954000	0.37851	0.561000	0.74099	TAC		0.677	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		T	66636376	G	T	66636376	4	4	478	1	0	0	0	0	0	1	0	0	11499	1024	36	4	2629	4	PC	11	66636376	Nonsense_Mutation	SNP	G	TCGA-BQ-7053-01A-11D-1961-08	4144550	66636376	68370140	26	25923											
MMP27	64066	hgsc.bcm.edu	37	11	102573542	102573542	+	Silent	SNP	C	C	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr11:102573542C>A	ENST00000260229.4	-	4	652	c.561G>T	c.(559-561)ccG>ccT	p.P187P		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	187					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P187P(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CACCCAGACCCGGACCAGGAG	0.443																																																2	Substitution - coding silent(2)	lung(1)|central_nervous_system(1)											84	88	86					11																	102573542		2203	4299	6502	SO:0001819	synonymous_variant	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.561G>T	chr11.hg19:g.102573542C>A			Q6UWK6	Silent	SNP	ENST00000260229.4	hg19	CCDS8319.1																																																																																				0.443	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		A	102573542	C	A	102573542	2	1	478	1	0	0	0	0	0	0	0	1	9666	639	23	4		4	MMP27	11	102573542	Silent	SNP	C	TCGA-BQ-7053-01A-11D-1961-08	35937166	102573542	32432974	27	25924											
GNPTAB	79158	hgsc.bcm.edu	37	12	102147162	102147162	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr12:102147162T>C	ENST00000299314.7	-	19	3852	c.3590A>G	c.(3589-3591)gAg>gGg	p.E1197G		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1197					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTCCTGCAGCTCATGCATATG	0.383																																																0													126	114	118					12																	102147162		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3590A>G	chr12.hg19:g.102147162T>C	ENSP00000299314:p.Glu1197Gly		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	hg19	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490528	0.64074	.	.	ENSG00000111670	ENST00000299314	D	0.83163	-1.69	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.89196	0.6646	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88424	0.3030	10	0.39692	T	0.17	-26.24	15.9351	0.79698	0.0:0.0:0.0:1.0	.	1197	Q3T906	GNPTA_HUMAN	G	1197	ENSP00000299314:E1197G	ENSP00000299314:E1197G	E	-	2	0	GNPTAB	100671293	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.694000	0.84235	2.167000	0.68274	0.482000	0.46254	GAG		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			C	102147162	T	C	102147162	3	2	478	1	0	0	0	0	1	0	0	0	6547	1551	54	3	192	3	GNPTAB	12	102147162	Missense_Mutation	SNP	T	TCGA-BQ-7053-01A-11D-1961-08		102147162	31704733	28	25925											
RASAL1	8437	hgsc.bcm.edu	37	12	113565934	113565934	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr12:113565934T>A	ENST00000261729.5	-	4	487	c.172A>T	c.(172-174)Acg>Tcg	p.T58S	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.T58S|RASAL1_ENST00000446861.3_Missense_Mutation_p.T58S|RASAL1_ENST00000546530.1_Missense_Mutation_p.T58S			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	58	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.		T -> M (in dbSNP:rs34598602). {ECO:0000269|PubMed:15489334}.		intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGGTGCACCGTGTACTCCTCC	0.617																																																0													197	195	196					12																	113565934		2203	4300	6503	SO:0001583	missense	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.172A>T	chr12.hg19:g.113565934T>A	ENSP00000261729:p.Thr58Ser		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	hg19	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130000	0.77549	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.12	5.12	0.69794	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74846	0.3770	L	0.45137	1.4	0.41650	D	0.98912	D;D;D;P;D;D	0.89917	1.0;1.0;1.0;0.698;0.994;1.0	D;D;D;P;D;D	0.91635	0.999;0.999;0.999;0.503;0.932;0.999	T	0.74191	-0.3745	10	0.36615	T	0.2	.	13.8909	0.63738	0.0:0.0:0.0:1.0	.	58;58;70;58;58;58	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	S	58	ENSP00000450244:T58S;ENSP00000261729:T58S;ENSP00000395920:T58S;ENSP00000448510:T58S	ENSP00000261729:T58S	T	-	1	0	RASAL1	112050317	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	7.259000	0.78381	1.939000	0.56221	0.402000	0.26972	ACG		0.617	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		A	113565934	T	A	113565934	3	1	478	1	0	0	0	0	1	0	0	0	13069	1696	59	5	2318	5	RASAL1	12	113565934	Missense_Mutation	SNP	T	TCGA-BQ-7053-01A-11D-1961-08	11418772	113565934	20285961	29	25926											
SACS	26278	hgsc.bcm.edu	37	13	23906994	23906994	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr13:23906994T>C	ENST00000382292.3	-	9	11294	c.11021A>G	c.(11020-11022)aAt>aGt	p.N3674S	SACS_ENST00000402364.1_Missense_Mutation_p.N2924S|SACS_ENST00000382298.3_Missense_Mutation_p.N3674S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3674					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGTGTTCCATTTACCTCTTG	0.393																																																0													85	85	85					13																	23906994		2203	4300	6503	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11021A>G	chr13.hg19:g.23906994T>C	ENSP00000371729:p.Asn3674Ser		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639656	0.29157	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87571	-2.12;-2.27;-2.12	5.8	5.8	0.92144	.	0.045544	0.85682	D	0.000000	T	0.79118	0.4392	N	0.17082	0.46	0.33015	D	0.528049	B	0.17465	0.022	B	0.14023	0.01	T	0.78450	-0.2199	10	0.33940	T	0.23	.	16.1429	0.81539	0.0:0.0:0.0:1.0	.	3674	Q9NZJ4	SACS_HUMAN	S	3674;2924;3674	ENSP00000371729:N3674S;ENSP00000385844:N2924S;ENSP00000371735:N3674S	ENSP00000371729:N3674S	N	-	2	0	SACS	22804994	1.000000	0.71417	0.981000	0.43875	0.722000	0.41435	4.970000	0.63742	2.209000	0.71365	0.460000	0.39030	AAT		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		C	23906994	T	C	23906994	3	2	478	1	0	0	0	0	1	0	0	0	13810	1493	52	3	2722	3	SACS	13	23906994	Missense_Mutation	SNP	T	TCGA-BQ-7053-01A-11D-1961-08		23906994	91262884	30	25927											
CHRFAM7A	89832	hgsc.bcm.edu	37	15	30665308	30665308	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr15:30665308delA	ENST00000299847.2	-	6	654	c.201delT	c.(199-201)tttfs	p.F67fs	CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000397827.3_5'UTR|CHRFAM7A_ENST00000401522.3_5'UTR	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	67						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CATCAAAGGGAAACCAGCGTA	0.483																																																0													61	60	61					15																	30665308		2176	4256	6432	SO:0001589	frameshift_variant	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.201delT	chr15.hg19:g.30665308delA	ENSP00000299847:p.Phe67fs		A8KAB9	Frame_Shift_Del	DEL	ENST00000299847.2	hg19	CCDS32184.1																																																																																				0.483	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		-	30665308	A	-	30665308	7	5	478	1	0	1	0	1	0	0	0	0	3377	243	9	0	1057	0	CHRFAM7A	15	30665308	Frame_Shift_Del	DEL	A	TCGA-BQ-7053-01A-11D-1961-08		30665308	71866084	31	25928											
IQGAP1	8826	hgsc.bcm.edu	37	15	91009552	91009552	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr15:91009552G>T	ENST00000268182.5	+	17	2043	c.1919G>T	c.(1918-1920)gGc>gTc	p.G640V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.G68V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	640					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGTGATGTTGGCAAAACACTG	0.443																																																0													148	124	132					15																	91009552		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1919G>T	chr15.hg19:g.91009552G>T	ENSP00000268182:p.Gly640Val		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	hg19	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470092	0.26423	.	.	ENSG00000140575	ENST00000268182	D	0.95171	-3.63	5.29	3.3	0.37823	.	0.339619	0.31268	N	0.007960	D	0.88444	0.6438	N	0.16478	0.41	0.33977	D	0.647533	B	0.02656	0.0	B	0.04013	0.001	D	0.87361	0.2344	10	0.35671	T	0.21	-7.5112	14.694	0.69107	0.0:0.4098:0.5901:0.0	.	640	P46940	IQGA1_HUMAN	V	640	ENSP00000268182:G640V	ENSP00000268182:G640V	G	+	2	0	IQGAP1	88810556	0.653000	0.27358	0.946000	0.38457	0.974000	0.67602	2.180000	0.42537	1.438000	0.47492	0.655000	0.94253	GGC		0.443	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		T	91009552	G	T	91009552	3	4	478	1	0	0	0	0	1	0	0	0	7816	1203	42	4	1985	4	IQGAP1	15	91009552	Missense_Mutation	SNP	G	TCGA-BQ-7053-01A-11D-1961-08	60344244	91009552	11521840	32	25929											
CNOT1	23019	hgsc.bcm.edu	37	16	58620607	58620607	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr16:58620607T>C	ENST00000317147.5	-	7	811	c.479A>G	c.(478-480)tAc>tGc	p.Y160C	CNOT1_ENST00000441024.2_Missense_Mutation_p.Y160C|CNOT1_ENST00000569240.1_Missense_Mutation_p.Y160C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	160					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCGTCAATGTAAGAACGCAG	0.458																																																0													218	225	223					16																	58620607		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.479A>G	chr16.hg19:g.58620607T>C	ENSP00000320949:p.Tyr160Cys		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	hg19	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651332	0.88056	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.24350	1.86;1.86	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.71206	2.165	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;P;P	0.81914	0.995;0.808;0.871	T	0.49380	-0.8946	9	.	.	.	-13.1581	15.1793	0.72941	0.0:0.0:0.0:1.0	.	160;160;160	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	C	160	ENSP00000320949:Y160C;ENSP00000413113:Y160C	.	Y	-	2	0	CNOT1	57178108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.041000	0.60428	0.454000	0.30748	TAC		0.458	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		C	58620607	T	C	58620607	3	2	478	1	0	0	0	0	1	0	0	0	3619	1638	57	3	7045	3	CNOT1	16	58620607	Missense_Mutation	SNP	T	TCGA-BQ-7053-01A-11D-1961-08		58620607	31734146	33	25930											
BCMO1	53630	hgsc.bcm.edu	37	16	81298288	81298288	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr16:81298288A>G	ENST00000258168.2	+	5	976	c.515A>G	c.(514-516)cAt>cGt	p.H172R	BCMO1_ENST00000425577.2_Missense_Mutation_p.H103R	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GCAACGTCACATCCCCATTAT	0.403																																																0													160	135	143					16																	81298288		2202	4300	6502	SO:0001583	missense	53630																														ENST00000258168.2:c.515A>G	chr16.hg19:g.81298288A>G	ENSP00000258168:p.His172Arg			Missense_Mutation	SNP	ENST00000258168.2	hg19	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125684	0.77436	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.99545	-6.13;-6.13	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	H	0.94658	3.565	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76575	0.988;0.971	D	0.97280	0.9917	10	0.87932	D	0	-25.987	14.8045	0.69942	1.0:0.0:0.0:0.0	.	103;172	E7EM88;Q9HAY6	.;BCDO1_HUMAN	R	172;103	ENSP00000258168:H172R;ENSP00000400586:H103R	ENSP00000258168:H172R	H	+	2	0	BCMO1	79855789	1.000000	0.71417	0.989000	0.46669	0.843000	0.47879	8.759000	0.91667	1.896000	0.54893	0.449000	0.29647	CAT		0.403	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			G	81298288	A	G	81298288	3	3	478	1	0	0	0	0	1	0	0	0	1384	217	8	3	533	3	BCMO1	16	81298288	Missense_Mutation	SNP	A	TCGA-BQ-7053-01A-11D-1961-08	22677681	81298288	9056465	34	25931											
MED13	9969	hgsc.bcm.edu	37	17	60040331	60040331	+	Splice_Site	SNP	T	T	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr17:60040331T>G	ENST00000397786.2	-	21	4922	c.4846A>C	c.(4846-4848)Acg>Ccg	p.T1616P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1616					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CGATCCATCGTGCTAAAATTT	0.398																																																0													62	60	60					17																	60040331		1850	4094	5944	SO:0001630	splice_region_variant	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4845-1A>C	chr17.hg19:g.60040331T>G			B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	hg19	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199056	0.79015	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.76060	-0.99	5.44	4.34	0.51931	.	0.045205	0.85682	D	0.000000	T	0.76786	0.4036	M	0.64997	1.995	0.80722	D	1	D	0.57899	0.981	P	0.52109	0.69	T	0.73544	-0.3949	10	0.29301	T	0.29	-33.0615	11.6656	0.51372	0.1329:0.0:0.0:0.8671	.	1616	Q9UHV7	MED13_HUMAN	P	1616;1615	ENSP00000380888:T1616P	ENSP00000262436:T1615P	T	-	1	0	MED13	57395113	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	5.940000	0.70187	0.864000	0.35578	0.533000	0.62120	ACG		0.398	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	Missense_Mutation	G	60040331	T	G	60040331	5	3	478	1	0	0	0	0	0	0	1	0	9432	1710	59	5	1718	5	MED13	17	60040331	Splice_Site	SNP	T	TCGA-BQ-7053-01A-11D-1961-08		60040331	21154879	35	25932											
ITGB4	3691	hgsc.bcm.edu	37	17	73746316	73746316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr17:73746316G>A	ENST00000200181.3	+	28	3628	c.3441G>A	c.(3439-3441)tgG>tgA	p.W1147*	ITGB4_ENST00000449880.2_Nonsense_Mutation_p.W1147*|ITGB4_ENST00000450894.3_Nonsense_Mutation_p.W1147*|ITGB4_ENST00000579662.1_Nonsense_Mutation_p.W1147*|ITGB4_ENST00000339591.3_Nonsense_Mutation_p.W1147*	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1147	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTTCAACTGGCTGCCCCCTT	0.632											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													33	34	33					17																	73746316		2203	4300	6503	SO:0001587	stop_gained	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3441G>A	chr17.hg19:g.73746316G>A	ENSP00000200181:p.Trp1147*	1147	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Nonsense_Mutation	SNP	ENST00000200181.3	hg19	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	45	11.812557	0.99605	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7383	0.96217	0.0:0.0:1.0:0.0	.	.	.	.	X	1147	.	ENSP00000200181:W1147X	W	+	3	0	ITGB4	71257911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.280000	0.89903	2.675000	0.91044	0.655000	0.94253	TGG		0.632	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			A	73746316	G	A	73746316	4	1	478	1	0	0	0	0	0	1	0	0	7899	1212	42	2	3547	2	ITGB4	17	73746316	Nonsense_Mutation	SNP	G	TCGA-BQ-7053-01A-11D-1961-08	13705985	73746316	7448894	36	25933											
ABCA7	10347	hgsc.bcm.edu	37	19	1061844	1061844	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:1061844G>A	ENST00000263094.6	+	41	5758	c.5527G>A	c.(5527-5529)Gac>Aac	p.D1843N	ABCA7_ENST00000433129.1_Missense_Mutation_p.D1843N|ABCA7_ENST00000435683.2_Missense_Mutation_p.D1705N	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1843	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGACGGGGGACACATTGGC	0.642																																																0													98	83	88					19																	1061844		2203	4299	6502	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5527G>A	chr19.hg19:g.1061844G>A	ENSP00000263094:p.Asp1843Asn		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975956	0.53720	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.96200	-3.94;-3.94	3.57	2.52	0.30459	ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	D	0.94837	0.8332	L	0.27053	0.805	0.43133	D	0.994875	D;D	0.76494	0.999;0.978	D;P	0.79784	0.993;0.906	D	0.93757	0.7063	9	0.87932	D	0	.	9.6422	0.39846	0.1075:0.0:0.8925:0.0	.	968;1843	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	N	1843	ENSP00000263094:D1843N;ENSP00000414062:D1843N	ENSP00000263094:D1843N	D	+	1	0	ABCA7	1012844	1.000000	0.71417	0.969000	0.41365	0.089000	0.18198	7.374000	0.79633	0.692000	0.31613	-0.258000	0.10820	GAC		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1061844	G	A	1061844	3	1	478	1	0	0	0	0	1	0	0	0	37	1174	41	2	5685	2	ABCA7	19	1061844	Missense_Mutation	SNP	G	TCGA-BQ-7053-01A-11D-1961-08		1061844	58067139	37	25934											
SH2D3A	10045	hgsc.bcm.edu	37	19	6760836	6760836	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:6760836A>G	ENST00000245908.6	-	3	501	c.232T>C	c.(232-234)Ttt>Ctt	p.F78L	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	78	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCCAGTTGAAAGAGGGCTGTG	0.642																																																0													64	63	64					19																	6760836		2203	4300	6503	SO:0001583	missense	10045			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.232T>C	chr19.hg19:g.6760836A>G	ENSP00000245908:p.Phe78Leu		A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	hg19	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.431070	0.62844	.	.	ENSG00000125731	ENST00000245908	T	0.65178	-0.14	4.88	4.88	0.63580	SH2 motif (4);	0.000000	0.43747	D	0.000537	T	0.66366	0.2782	M	0.74546	2.27	0.80722	D	1	B	0.33883	0.43	B	0.39876	0.312	T	0.71310	-0.4631	10	0.87932	D	0	-15.1205	12.5273	0.56093	1.0:0.0:0.0:0.0	.	78	Q9BRG2	SH23A_HUMAN	L	78	ENSP00000245908:F78L	ENSP00000245908:F78L	F	-	1	0	SH2D3A	6711836	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	7.241000	0.78201	2.062000	0.61559	0.454000	0.30748	TTT		0.642	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		G	6760836	A	G	6760836	3	3	478	1	0	0	0	0	1	0	0	0	14239	72	3	3	1530	3	SH2D3A	19	6760836	Missense_Mutation	SNP	A	TCGA-BQ-7053-01A-11D-1961-08	5698992	6760836	52368147	38	25935											
MAP2K7	5609	hgsc.bcm.edu	37	19	7976338	7976338	+	Silent	SNP	A	A	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:7976338A>G	ENST00000397979.3	+	9	1008	c.954A>G	c.(952-954)ggA>ggG	p.G318G	MAP2K7_ENST00000545011.1_Silent_p.G360G|MAP2K7_ENST00000397981.3_Silent_p.G325G|MAP2K7_ENST00000397983.3_Silent_p.G334G|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	318	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						TGGCAACAGGACAGTTTCCCT	0.607																																																0													44	49	47					19																	7976338		1939	4121	6060	SO:0001819	synonymous_variant	5609			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.954A>G	chr19.hg19:g.7976338A>G			B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	hg19	CCDS42491.1																																																																																				0.607	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			G	7976338	A	G	7976338	2	3	478	1	0	0	0	0	0	0	0	1	9244	262	10	3		3	MAP2K7	19	7976338	Silent	SNP	A	TCGA-BQ-7053-01A-11D-1961-08	1215502	7976338	51152645	39	25936											
ZNF613	79898	hgsc.bcm.edu	37	19	52448014	52448014	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:52448014G>T	ENST00000293471.6	+	6	1557	c.878G>T	c.(877-879)tGt>tTt	p.C293F	ZNF613_ENST00000391794.4_Missense_Mutation_p.C257F	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGCAGTGATTGTGGAAAAGGC	0.438																																																0													67	73	71					19																	52448014		2203	4300	6503	SO:0001583	missense	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.878G>T	chr19.hg19:g.52448014G>T	ENSP00000293471:p.Cys293Phe		Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	hg19	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176698	0.57692	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	D;D	0.85861	-2.04;-2.04	3.1	3.1	0.35709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36034	N	0.002824	D	0.94673	0.8282	H	0.97415	4	0.43662	D	0.99608	D	0.89917	1.0	D	0.91635	0.999	D	0.96089	0.9060	10	0.87932	D	0	.	13.4498	0.61163	0.0:0.0:1.0:0.0	.	293	Q6PF04	ZN613_HUMAN	F	293;257	ENSP00000293471:C293F;ENSP00000375671:C257F	ENSP00000293471:C293F	C	+	2	0	ZNF613	57139826	1.000000	0.71417	0.876000	0.34364	0.804000	0.45430	8.406000	0.90216	1.730000	0.51580	0.655000	0.94253	TGT		0.438	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		T	52448014	G	T	52448014	3	4	478	1	0	0	0	0	1	0	0	0	18043	1377	48	4	892	4	ZNF613	19	52448014	Missense_Mutation	SNP	G	TCGA-BQ-7053-01A-11D-1961-08	44471676	52448014	6680969	40	25937											
KCNJ15	3772	hgsc.bcm.edu	37	21	39672237	39672239	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr21:39672237_39672239delGAG	ENST00000328656.4	+	4	1357_1359	c.1054_1056delGAG	c.(1054-1056)gagdel	p.E353del	KCNJ15_ENST00000398930.1_In_Frame_Del_p.E353del|KCNJ15_ENST00000398932.1_In_Frame_Del_p.E353del|KCNJ15_ENST00000398938.2_In_Frame_Del_p.E353del|KCNJ15_ENST00000398934.1_In_Frame_Del_p.E353del	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	353					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	ACAGCAACTCGAGGAGAAGTACA	0.443																																																0																																										SO:0001651	inframe_deletion	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.1054_1056delGAG	chr21.hg19:g.39672240_39672242delGAG	ENSP00000331698:p.Glu353del		D3DSH5|O00564|Q96L28|Q99446	In_Frame_Del	DEL	ENST00000328656.4	hg19	CCDS13656.1																																																																																				0.443	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		-	39672239	GAG	-	39672237	7	5	478	1	0	1	0	1	0	0	0	0	8051	1059	37	0	1056	0	KCNJ15	21	39672237	In_Frame_Del	DEL	GAG	TCGA-BQ-7053-01A-11D-1961-08		39672237	8457658	41	25938											
SGSM3	57591	hgsc.bcm.edu	37	22	40803806	40803806	+	IGR	SNP	A	A	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr22:40803806A>C	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.K513T|SGSM3_ENST00000454798.2_Missense_Mutation_p.K446T	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTGTCTCAGAAGGACGAGCAC	0.622			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													60	61	60					22																	40803806		2203	4300	6503	SO:0001628	intergenic_variant	27352			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		chr22.hg19:g.40803806A>C			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	hg19	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958990	0.92726	.	.	ENSG00000100359	ENST00000248929;ENST00000454798	T;T	0.49720	0.77;0.77	5.23	5.23	0.72850	Src homology-3 domain (4);	0.045898	0.85682	D	0.000000	T	0.47911	0.1471	N	0.04820	-0.15	0.80722	D	1	D;D;D;D	0.65815	0.985;0.958;0.981;0.995	P;P;P;D	0.69479	0.876;0.904;0.905;0.964	T	0.61222	-0.7106	10	0.87932	D	0	.	15.4205	0.75006	1.0:0.0:0.0:0.0	.	450;446;541;513	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	T	513;446	ENSP00000248929:K513T;ENSP00000390998:K446T	ENSP00000248929:K513T	K	+	2	0	SGSM3	39133752	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.528000	0.90598	2.109000	0.64355	0.459000	0.35465	AAG		0.622	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		C	40803806	A	C	40803806	1	2	478	0	1	0	0	0	0	0	0	0	14230	72	3	5		5	SGSM3	22	40803806	IGR	SNP	A	TCGA-BQ-7053-01A-11D-1961-08		40803806	10500760	42	25939											
TEX11	56159	hgsc.bcm.edu	37	X	69898664	69898664	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chrX:69898664C>T	ENST00000395889.2	-	16	1432	c.1277G>A	c.(1276-1278)aGt>aAt	p.S426N	TEX11_ENST00000374320.2_Missense_Mutation_p.S101N|TEX11_ENST00000344304.3_Missense_Mutation_p.S426N|TEX11_ENST00000374333.2_Missense_Mutation_p.S411N	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	426					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTCAAAACTACTGGCAGCTTG	0.338																																																0													111	97	102					X																	69898664		2203	4300	6503	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1277G>A	chrX.hg19:g.69898664C>T	ENSP00000379226:p.Ser426Asn		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	hg19	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	4.605	0.112373	0.08831	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.58	-1.09	0.09904	Tetratricopeptide-like helical (1);	0.437979	0.23803	N	0.044403	T	0.45875	0.1364	N	0.08118	0	0.09310	N	1	B;B	0.26195	0.119;0.144	B;B	0.30251	0.069;0.113	T	0.30416	-0.9979	9	.	.	.	0.0168	3.6866	0.08331	0.1899:0.282:0.0:0.5281	.	411;426	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	N	411;426;101;426	ENSP00000363453:S411N;ENSP00000379226:S426N;ENSP00000363440:S101N;ENSP00000340995:S426N	.	S	-	2	0	TEX11	69815389	0.996000	0.38824	0.062000	0.19696	0.495000	0.33615	0.274000	0.18680	-0.223000	0.09943	-0.371000	0.07208	AGT		0.338	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			T	69898664	C	T	69898664	3	4	478	1	0	0	0	0	1	0	0	0	15779	565	20	2	1609	2	TEX11	23	69898664	Missense_Mutation	SNP	C	TCGA-BQ-7053-01A-11D-1961-08		69898664	85371896	43	25940											
TGFBRAP1	9392	hgsc.bcm.edu	37	2	105886051	105886051	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7055-01A-11D-1961-08	TCGA-BQ-7055-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69910e4a-5f3a-49c8-9c58-5f5fc0b4625a	1a7e89d4-822a-4ca2-b6e3-e3114990152b	g.chr2:105886051G>A	ENST00000393359.2	-	11	2510	c.2084C>T	c.(2083-2085)gCg>gTg	p.A695V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A695V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	695					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTCCTCGGCCGCTGCAAAGTC	0.657																																					Esophageal Squamous(183;794 2019 9730 21801 48859)											0													26	27	27					2																	105886051		2203	4300	6503	SO:0001583	missense	9392			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2084C>T	chr2.hg19:g.105886051G>A	ENSP00000377027:p.Ala695Val		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	hg19	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625045	0.66901	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.19806	2.12;2.12	5.54	4.64	0.57946	.	0.053015	0.85682	D	0.000000	T	0.49406	0.1555	M	0.86178	2.8	0.54753	D	0.999985	D;D	0.89917	1.0;0.992	D;D	0.68039	0.955;0.909	T	0.56098	-0.8035	10	0.46703	T	0.11	-29.6428	15.5761	0.76387	0.0:0.0:0.8611:0.1389	.	150;695	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	V	695;695;150	ENSP00000377027:A695V;ENSP00000258449:A695V	ENSP00000258449:A695V	A	-	2	0	TGFBRAP1	105252483	1.000000	0.71417	0.404000	0.26397	0.158000	0.22134	9.470000	0.97683	1.293000	0.44690	0.462000	0.41574	GCG		0.657	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		A	105886051	G	A	105886051	3	1	479	1	0	0	0	0	1	0	0	0	15829	1087	38	1	506	1	TGFBRAP1	2	105886051	Missense_Mutation	SNP	G	TCGA-BQ-7055-01A-11D-1961-08		105886051	137313322	1	25941											
CCDC71	64925	hgsc.bcm.edu	37	3	49200861	49200862	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BQ-7055-01A-11D-1961-08	TCGA-BQ-7055-11A-01D-1961-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69910e4a-5f3a-49c8-9c58-5f5fc0b4625a	1a7e89d4-822a-4ca2-b6e3-e3114990152b	g.chr3:49200861_49200862delCT	ENST00000321895.6	-	2	886_887	c.780_781delAG	c.(778-783)agagccfs	p.RA260fs		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	260										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACCCAGTGGCTCTGTTGGTTT	0.624																																																0																																										SO:0001589	frameshift_variant	64925			AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.780_781delAG	chr3.hg19:g.49200863_49200864delCT	ENSP00000319006:p.Arg260fs		Q6IPE2|Q9H8H4|Q9H9F1	Frame_Shift_Del	DEL	ENST00000321895.6	hg19	CCDS2790.1																																																																																				0.624	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		-	49200862	CT	-	49200861	7	5	479	1	0	1	0	1	0	0	0	0	2846	797	28	0	626	0	CCDC71	3	49200861	Frame_Shift_Del	DEL	CT	TCGA-BQ-7055-01A-11D-1961-08		49200861	148821569	2	25942											
DEFB114	245928	hgsc.bcm.edu	37	6	49931770	49931770	+	Silent	SNP	G	G	A			TCGA-BQ-7055-01A-11D-1961-08	TCGA-BQ-7055-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69910e4a-5f3a-49c8-9c58-5f5fc0b4625a	1a7e89d4-822a-4ca2-b6e3-e3114990152b	g.chr6:49931770G>A	ENST00000322066.3	-	1	48	c.49C>T	c.(49-51)Cta>Tta	p.L17L		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	17					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTACCTGGTAGAATGAAGGTC	0.284																																																0													69	68	68					6																	49931770		2202	4293	6495	SO:0001819	synonymous_variant	245928			DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"Defensins, beta"	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.49C>T	chr6.hg19:g.49931770G>A			Q8NES9	Silent	SNP	ENST00000322066.3	hg19	CCDS34474.1																																																																																				0.284	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499		A	49931770	G	A	49931770	2	1	479	1	0	0	0	0	0	0	0	1	4405	933	33	2		2	DEFB114	6	49931770	Silent	SNP	G	TCGA-BQ-7055-01A-11D-1961-08		49931770	121183297	3	25943											
CRY1	1407	hgsc.bcm.edu	37	12	107399011	107399011	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7055-01A-11D-1961-08	TCGA-BQ-7055-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69910e4a-5f3a-49c8-9c58-5f5fc0b4625a	1a7e89d4-822a-4ca2-b6e3-e3114990152b	g.chr12:107399011T>C	ENST00000008527.5	-	3	1150	c.283A>G	c.(283-285)Aaa>Gaa	p.K95E		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	95	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATTGAAAGTTTAGTAATGTTC	0.343																																																0													137	132	134					12																	107399011		2203	4300	6503	SO:0001583	missense	1407			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.283A>G	chr12.hg19:g.107399011T>C	ENSP00000008527:p.Lys95Glu			Missense_Mutation	SNP	ENST00000008527.5	hg19	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.847284	0.51164	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.61	5.61	0.85477	Rossmann-like alpha/beta/alpha sandwich fold (1);DNA photolyase, N-terminal (2);	0.160218	0.53938	D	0.000048	T	0.54319	0.1851	L	0.49640	1.575	0.41632	D	0.989029	B	0.19073	0.033	B	0.19666	0.026	T	0.52472	-0.8571	9	0.06757	T	0.87	-12.0027	15.8086	0.78538	0.0:0.0:0.0:1.0	.	95	Q16526	CRY1_HUMAN	E	95	.	ENSP00000008527:K95E	K	-	1	0	CRY1	105923141	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	5.296000	0.65698	2.147000	0.66899	0.477000	0.44152	AAA		0.343	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		C	107399011	T	C	107399011	3	2	479	1	0	0	0	0	1	0	0	0	3905	1763	61	3	1517	3	CRY1	12	107399011	Missense_Mutation	SNP	T	TCGA-BQ-7055-01A-11D-1961-08		107399011	26452884	4	25944											
SYT3	84258	hgsc.bcm.edu	37	19	51135675	51135675	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7055-01A-11D-1961-08	TCGA-BQ-7055-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69910e4a-5f3a-49c8-9c58-5f5fc0b4625a	1a7e89d4-822a-4ca2-b6e3-e3114990152b	g.chr19:51135675G>A	ENST00000338916.4	-	2	1175	c.542C>T	c.(541-543)cCg>cTg	p.P181L	SYT3_ENST00000544769.1_Missense_Mutation_p.P181L|SYT3_ENST00000600079.1_Missense_Mutation_p.P181L|SYT3_ENST00000593901.1_Missense_Mutation_p.P181L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	181					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGTTTGGCTCGGTTTGACCCC	0.657																																																0													33	34	34					19																	51135675		2203	4300	6503	SO:0001583	missense	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.542C>T	chr19.hg19:g.51135675G>A	ENSP00000340914:p.Pro181Leu		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	hg19	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907284	0.33628	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.54479	0.57;0.57	5.24	5.24	0.73138	.	0.715640	0.12228	U	0.487701	T	0.29355	0.0731	N	0.03608	-0.345	0.09310	N	0.999994	B	0.09022	0.002	B	0.04013	0.001	T	0.06110	-1.0845	10	0.49607	T	0.09	.	8.4467	0.32847	0.169:0.0:0.831:0.0	.	181	Q9BQG1	SYT3_HUMAN	L	181	ENSP00000340914:P181L;ENSP00000438883:P181L	ENSP00000340914:P181L	P	-	2	0	SYT3	55827487	0.978000	0.34361	0.974000	0.42286	0.996000	0.88848	3.207000	0.51106	2.605000	0.88082	0.655000	0.94253	CCG		0.657	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		A	51135675	G	A	51135675	3	1	479	1	0	0	0	0	1	0	0	0	15480	1116	39	1	1258	1	SYT3	19	51135675	Missense_Mutation	SNP	G	TCGA-BQ-7055-01A-11D-1961-08		51135675	7993308	5	25945											
ZNF304	57343	hgsc.bcm.edu	37	19	57869057	57869057	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7055-01A-11D-1961-08	TCGA-BQ-7055-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	69910e4a-5f3a-49c8-9c58-5f5fc0b4625a	1a7e89d4-822a-4ca2-b6e3-e3114990152b	g.chr19:57869057G>A	ENST00000282286.5	+	3	1993	c.1820G>A	c.(1819-1821)aGg>aAg	p.R607K	ZNF304_ENST00000443917.2_Missense_Mutation_p.R654K|ZNF304_ENST00000598744.1_Missense_Mutation_p.R565K|ZNF304_ENST00000391705.3_Missense_Mutation_p.R607K			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTGCACCAGAGGGTTCACACT	0.478																																																0													84	81	82					19																	57869057		2203	4300	6503	SO:0001583	missense	57343			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1820G>A	chr19.hg19:g.57869057G>A	ENSP00000282286:p.Arg607Lys			Missense_Mutation	SNP	ENST00000282286.5	hg19	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814001	0.70912	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.18338	2.22;2.22;2.22	3.89	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29126	0.0724	L	0.42744	1.35	0.23056	N	0.998366	P;D	0.58970	0.898;0.984	P;D	0.69142	0.483;0.962	T	0.07462	-1.0771	9	0.45353	T	0.12	.	9.2462	0.37527	0.1894:0.0:0.8106:0.0	.	607;654	Q9HCX3;E7EQD3	ZN304_HUMAN;.	K	607;607;654	ENSP00000282286:R607K;ENSP00000375586:R607K;ENSP00000401642:R654K	ENSP00000282286:R607K	R	+	2	0	ZNF304	62560869	0.892000	0.30473	0.763000	0.31416	0.981000	0.71138	5.266000	0.65525	0.600000	0.29862	0.650000	0.86243	AGG		0.478	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			A	57869057	G	A	57869057	3	1	479	1	0	0	0	0	1	0	0	0	17838	1000	35	2	1830	2	ZNF304	19	57869057	Missense_Mutation	SNP	G	TCGA-BQ-7055-01A-11D-1961-08	6733382	57869057	1259926	6	25946											
ZYG11B	79699	hgsc.bcm.edu	37	1	53287196	53287196	+	Silent	SNP	T	T	C	rs368928161		TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr1:53287196T>C	ENST00000294353.6	+	14	2275	c.2130T>C	c.(2128-2130)caT>caC	p.H710H	ZYG11B_ENST00000443756.2_Silent_p.H640H	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	710										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CTGATCCCCATGTCCAACAGA	0.433																																																0								T		0,4406		0,0,2203	98	85	90		2130	-5	0.9	1		90	1,8599		0,1,4299	no	coding-synonymous	ZYG11B	NM_024646.2		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		710/745	53287196	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.2130T>C	chr1.hg19:g.53287196T>C			Q8N2X3|Q9H8L8	Silent	SNP	ENST00000294353.6	hg19	CCDS30717.1																																																																																				0.433	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		C	53287196	T	C	53287196	2	2	480	1	0	0	0	0	0	0	0	1	18258	1461	51	3		3	ZYG11B	1	53287196	Silent	SNP	T	TCGA-BQ-7056-01A-11D-1961-08		53287196	195963425	1	25947											
PYCR2	29920	hgsc.bcm.edu	37	1	226109611	226109611	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr1:226109611C>G	ENST00000343818.6	-	4	635	c.487G>C	c.(487-489)Gaa>Caa	p.E163Q	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Intron	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	163					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	AGGTCCTCTTCCACCTCAGTG	0.637																																																0													56	43	48					1																	226109611		2203	4300	6503	SO:0001583	missense	29920			AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.487G>C	chr1.hg19:g.226109611C>G	ENSP00000342502:p.Glu163Gln		A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	ENST00000343818.6	hg19	CCDS31043.1	.	.	.	.	.	.	.	.	.	.	c	15.98	2.994034	0.54041	.	.	ENSG00000143811	ENST00000343818;ENST00000316940;ENST00000316918	D	0.85088	-1.94	4.67	4.67	0.58626	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	M	0.63169	1.94	0.52501	D	0.999958	P;D	0.59767	0.954;0.986	B;P	0.50825	0.442;0.651	D	0.85792	0.1368	10	0.34782	T	0.22	.	15.4503	0.75268	0.0:1.0:0.0:0.0	.	163;162	Q96C36;E7EUS9	P5CR2_HUMAN;.	Q	163;162;116	ENSP00000342502:E163Q	ENSP00000321499:E116Q	E	-	1	0	PYCR2	224176234	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.801000	0.69115	2.570000	0.86706	0.655000	0.94253	GAA		0.637	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		G	226109611	C	G	226109611	3	3	480	1	0	0	0	0	1	0	0	0	12862	864	30	4	491	4	PYCR2	1	226109611	Missense_Mutation	SNP	C	TCGA-BQ-7056-01A-11D-1961-08	172822415	226109611	23141010	2	25948											
DLX1	1745	hgsc.bcm.edu	37	2	172950598	172950598	+	Silent	SNP	C	C	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr2:172950598C>A	ENST00000361725.4	+	1	645	c.193C>A	c.(193-195)Cga>Aga	p.R65R	DLX1_ENST00000341900.6_Silent_p.R65R	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	65					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTCCTTCTCCCGACCGCTGGG	0.652																																																0													90	89	89					2																	172950598		2203	4300	6503	SO:0001819	synonymous_variant	1745			BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"Homeoboxes / ANTP class : NKL subclass"	2914	protein-coding gene	gene with protein product		600029	"distal-less homeo box 1"			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.193C>A	chr2.hg19:g.172950598C>A			D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Silent	SNP	ENST00000361725.4	hg19	CCDS2247.2																																																																																				0.652	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405916.1	XM_087198		A	172950598	C	A	172950598	2	1	480	1	0	0	0	0	0	0	0	1	4572	644	23	4		4	DLX1	2	172950598	Silent	SNP	C	TCGA-BQ-7056-01A-11D-1961-08		172950598	70248775	3	25949											
TTN	7273	hgsc.bcm.edu	37	2	179443931	179443931	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr2:179443931A>G	ENST00000591111.1	-	270	63127	c.62903T>C	c.(62902-62904)aTa>aCa	p.I20968T	RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I13736T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I22609T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I13544T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I20041T|TTN_ENST00000359218.5_Missense_Mutation_p.I13669T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20968	Ig-like 112.				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)			ATCGTACACTATAAGAGTTGT	0.448																																																0													129	125	126					2																	179443931		1936	4122	6058	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62903T>C	chr2.hg19:g.179443931A>G	ENSP00000465570:p.Ile20968Thr		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.40	1.340192	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.98	4.82	0.62117	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45196	0.1330	N	0.16166	0.38	0.22666	N	0.998875	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.40608	-0.9554	9	0.87932	D	0	.	9.2435	0.37511	0.8612:0.0:0.1388:0.0	.	13544;13669;13736;20968	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	20041;13544;13736;13669;13542	ENSP00000343764:I20041T;ENSP00000434586:I13544T;ENSP00000340554:I13736T;ENSP00000352154:I13669T	ENSP00000340554:I13736T	I	-	2	0	TTN	179152177	0.996000	0.38824	0.972000	0.41901	0.977000	0.68977	5.187000	0.65087	1.075000	0.40932	0.533000	0.62120	ATA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179443931	A	G	179443931	3	3	480	1	0	0	0	0	1	0	0	0	16740	449	16	3	40325	3	TTN	2	179443931	Missense_Mutation	SNP	A	TCGA-BQ-7056-01A-11D-1961-08	6493333	179443931	63755442	4	25950											
COL7A1	1294	hgsc.bcm.edu	37	3	48602253	48602253	+	Silent	SNP	G	G	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr3:48602253G>A	ENST00000328333.8	-	117	8888	c.8781C>T	c.(8779-8781)cgC>cgT	p.R2927R	UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Silent_p.R2895R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2927	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.|Nonhelical region (NC2).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGGGCAGCGGCGCTCGCAGG	0.662																																																0													32	33	33					3																	48602253		2202	4299	6501	SO:0001819	synonymous_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8781C>T	chr3.hg19:g.48602253G>A			Q14054|Q16507	Silent	SNP	ENST00000328333.8	hg19	CCDS2773.1																																																																																				0.662	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		A	48602253	G	A	48602253	2	1	480	1	0	0	0	0	0	0	0	1	3706	1190	42	2		2	COL7A1	3	48602253	Silent	SNP	G	TCGA-BQ-7056-01A-11D-1961-08		48602253	149420177	5	25951											
RBM15B	29890	hgsc.bcm.edu	37	3	51431021	51431021	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr3:51431021A>T	ENST00000323686.4	+	1	2291	c.2191A>T	c.(2191-2193)Agc>Tgc	p.S731C		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	731	Interaction with Epstein-Barr virus BMLF1.|SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGAAAAACAGCTGCTTCCC	0.512																																																0													88	89	88					3																	51431021		2203	4300	6503	SO:0001583	missense	29890			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2191A>T	chr3.hg19:g.51431021A>T	ENSP00000313890:p.Ser731Cys		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	hg19	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394518	0.62066	.	.	ENSG00000179837	ENST00000323686;ENST00000540284;ENST00000541145;ENST00000536338	T	0.18338	2.22	5.75	5.75	0.90469	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.46718	0.1407	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.52034	-0.8629	9	0.87932	D	0	-23.1168	16.0623	0.80847	1.0:0.0:0.0:0.0	.	731	Q8NDT2	RB15B_HUMAN	C	731;52;404;150	ENSP00000313890:S731C	ENSP00000313890:S731C	S	+	1	0	RBM15B	51406061	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	9.307000	0.96226	2.195000	0.70347	0.533000	0.62120	AGC		0.512	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		T	51431021	A	T	51431021	3	4	480	1	0	0	0	0	1	0	0	0	13123	188	7	5	2193	5	RBM15B	3	51431021	Missense_Mutation	SNP	A	TCGA-BQ-7056-01A-11D-1961-08	2828768	51431021	146591409	6	25952											
WDR52	55779	hgsc.bcm.edu	37	3	113128125	113128125	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr3:113128125C>A	ENST00000295868.2	-	7	880	c.718G>T	c.(718-720)Ggt>Tgt	p.G240C	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.G240C|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2												p.G240C(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGCAAGTTACCGCTGTAGTTA	0.393																																																1	Substitution - Missense(1)	lung(1)											126	118	121					3																	113128125		2203	4300	6503	SO:0001583	missense	55779																														ENST00000295868.2:c.718G>T	chr3.hg19:g.113128125C>A	ENSP00000295868:p.Gly240Cys			Missense_Mutation	SNP	ENST00000295868.2	hg19	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675005	0.88445	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.73897	-0.79;2.77	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	D	0.90614	0.7057	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91830	0.5474	9	0.87932	D	0	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	240	Q96MT7	WDR52_HUMAN	C	240	ENSP00000377428:G240C;ENSP00000295868:G240C	ENSP00000295868:G240C	G	-	1	0	WDR52	114610815	1.000000	0.71417	0.218000	0.23776	0.028000	0.11728	7.223000	0.78033	2.873000	0.98535	0.563000	0.77884	GGT		0.393	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			A	113128125	C	A	113128125	3	1	480	1	0	0	0	0	1	0	0	0	17309	652	23	4	4977	4	WDR52	3	113128125	Missense_Mutation	SNP	C	TCGA-BQ-7056-01A-11D-1961-08	61697104	113128125	84894305	7	25953											
UGT2A1	10941	hgsc.bcm.edu	37	4	70513331	70513331	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr4:70513331T>C	ENST00000503640.1	-	1	87	c.32A>G	c.(31-33)cAg>cGg	p.Q11R	UGT2A1_ENST00000286604.4_Missense_Mutation_p.Q11R|UGT2A1_ENST00000514019.1_Missense_Mutation_p.Q11R|UGT2A1_ENST00000512704.1_Missense_Mutation_p.Q11R	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	11					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAGACTTATCTGAAGGGAGAA	0.363																																																0													43	41	42					4																	70513331		2202	4298	6500	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.32A>G	chr4.hg19:g.70513331T>C	ENSP00000424478:p.Gln11Arg		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	hg19	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251452	0.22880	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.60424	0.2;0.27;0.21;0.19;1.99	5.93	4.69	0.59074	.	1.385230	0.04777	N	0.429078	T	0.50990	0.1648	L	0.34521	1.04	.	.	.	B;B;B;B	0.25772	0.047;0.134;0.047;0.047	B;B;B;B	0.28784	0.022;0.094;0.022;0.022	T	0.38929	-0.9638	9	0.25106	T	0.35	.	11.0455	0.47857	0.0:0.0:0.1554:0.8446	.	11;11;11;11	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	R	11	ENSP00000424478:Q11R;ENSP00000421432:Q11R;ENSP00000425497:Q11R;ENSP00000286604:Q11R;ENSP00000427709:Q11R	ENSP00000286604:Q11R	Q	-	2	0	UGT2A1	70547920	0.908000	0.30866	1.000000	0.80357	0.292000	0.27327	1.859000	0.39418	2.281000	0.76405	0.533000	0.62120	CAG		0.363	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		C	70513331	T	C	70513331	3	2	480	1	0	0	0	0	1	0	0	0	16958	1580	55	3	1575	3	UGT2A1	4	70513331	Missense_Mutation	SNP	T	TCGA-BQ-7056-01A-11D-1961-08		70513331	120640945	8	25954											
SLC4A4	8671	hgsc.bcm.edu	37	4	72412140	72412140	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr4:72412140C>A	ENST00000264485.5	+	19	2633	c.2516C>A	c.(2515-2517)cCg>cAg	p.P839Q	SLC4A4_ENST00000425175.1_Missense_Mutation_p.P839Q|SLC4A4_ENST00000340595.3_Missense_Mutation_p.P795Q|SLC4A4_ENST00000351898.6_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	839					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ATGGCTCTTCCGTGGTATGTA	0.463																																																0													251	196	214					4																	72412140		2203	4299	6502	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2516C>A	chr4.hg19:g.72412140C>A	ENSP00000264485:p.Pro839Gln		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	hg19	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417192	0.83449	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000340595	D;D;D	0.89050	-2.46;-2.46;-2.46	5.75	5.75	0.90469	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97617	1.0133	10	0.87932	D	0	.	19.9564	0.97221	0.0:1.0:0.0:0.0	.	839;795;839	A5JJ20;Q9Y6R1-2;Q9Y6R1	.;.;S4A4_HUMAN	Q	839;839;795	ENSP00000264485:P839Q;ENSP00000393557:P839Q;ENSP00000344272:P795Q	ENSP00000264485:P839Q	P	+	2	0	SLC4A4	72631004	1.000000	0.71417	0.328000	0.25416	0.600000	0.36913	7.818000	0.86416	2.708000	0.92522	0.650000	0.86243	CCG		0.463	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		A	72412140	C	A	72412140	3	1	480	1	0	0	0	0	1	0	0	0	14662	652	23	4	2707	4	SLC4A4	4	72412140	Missense_Mutation	SNP	C	TCGA-BQ-7056-01A-11D-1961-08	1898809	72412140	118742136	9	25955											
C4orf26	152816	hgsc.bcm.edu	37	4	76489342	76489342	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr4:76489342C>T	ENST00000311623.4	+	2	121	c.86C>T	c.(85-87)aCg>aTg	p.T29M	C4orf26_ENST00000435974.2_Missense_Mutation_p.R44C	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	29						extracellular region (GO:0005576)				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAGGTATTTACGCCTCCTGGA	0.527																																																0													67	71	70					4																	76489342		2203	4300	6503	SO:0001583	missense	152816			AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.86C>T	chr4.hg19:g.76489342C>T	ENSP00000311307:p.Thr29Met		B4DTI3|E7ETQ0|Q8TEC3	Missense_Mutation	SNP	ENST00000311623.4	hg19	CCDS3569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.382|7.382	0.628915|0.628915	0.14257|0.14257	.|.	.|.	ENSG00000174792|ENSG00000174792	ENST00000435974|ENST00000311623	T|T	0.50813|0.39592	0.73|1.07	4.6|4.6	1.05|1.05	0.20165|0.20165	.|.	.|0.365474	.|0.21557	.|N	.|0.072634	T|T	0.39384|0.39384	0.1076|0.1076	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|D	0.06786|0.89917	0.001|1.0	B|P	0.04013|0.58660	0.001|0.843	T|T	0.19418|0.19418	-1.0306|-1.0306	9|10	0.87932|0.87932	D|D	0|0	.|.	4.1083|4.1083	0.10047|0.10047	0.181:0.61:0.0:0.209|0.181:0.61:0.0:0.209	.|.	44|29	E7ETQ0|Q17RF5	.|CD026_HUMAN	C|M	44|29	ENSP00000406925:R44C|ENSP00000311307:T29M	ENSP00000406925:R44C|ENSP00000311307:T29M	R|T	+|+	1|2	0|0	C4orf26|C4orf26	76708366|76708366	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.212000|0.212000	0.24457|0.24457	-0.328000|-0.328000	0.07945|0.07945	0.054000|0.054000	0.16065|0.16065	0.551000|0.551000	0.68910|0.68910	CGC|ACG		0.527	C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252410.1	NM_178497		T	76489342	C	T	76489342	3	4	480	1	0	0	0	0	1	0	0	0	2259	536	19	1	92	1	C4orf26	4	76489342	Missense_Mutation	SNP	C	TCGA-BQ-7056-01A-11D-1961-08	4077202	76489342	114664934	10	25956											
UGT3A2	167127	hgsc.bcm.edu	37	5	36035804	36035804	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr5:36035804G>A	ENST00000282507.3	-	7	1669	c.1568C>T	c.(1567-1569)aCa>aTa	p.T523I	UGT3A2_ENST00000545528.1_Missense_Mutation_p.T221I|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T489I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	523					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGCCTTATGTCTCCTTCAC	0.582																																																0													53	48	50					5																	36035804		2203	4300	6503	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1568C>T	chr5.hg19:g.36035804G>A	ENSP00000282507:p.Thr523Ile		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	hg19	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276110	0.23307	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;D	0.83992	0.02;-0.22;-1.79	2.74	-0.134	0.13481	.	2.665640	0.03471	U	0.213729	T	0.67636	0.2914	N	0.08118	0	0.09310	N	1	P;P	0.50272	0.933;0.933	B;B	0.42386	0.386;0.386	T	0.62120	-0.6921	10	0.87932	D	0	.	3.4564	0.07516	0.3405:0.0:0.479:0.1806	.	489;523	E9PFK7;Q3SY77	.;UD3A2_HUMAN	I	523;489;221	ENSP00000282507:T523I;ENSP00000427404:T489I;ENSP00000445367:T221I	ENSP00000282507:T523I	T	-	2	0	UGT3A2	36071561	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.200000	0.17257	-0.057000	0.13199	0.563000	0.77884	ACA		0.582	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		A	36035804	G	A	36035804	3	1	480	1	0	0	0	0	1	0	0	0	16969	1377	48	2	7	2	UGT3A2	5	36035804	Missense_Mutation	SNP	G	TCGA-BQ-7056-01A-11D-1961-08		36035804	144879456	11	25957											
DDX4	54514	hgsc.bcm.edu	37	5	55088515	55088515	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr5:55088515G>T	ENST00000505374.1	+	17	1441	c.1349G>T	c.(1348-1350)cGc>cTc	p.R450L	DDX4_ENST00000511853.1_Missense_Mutation_p.R301L|DDX4_ENST00000354991.5_Missense_Mutation_p.R416L|DDX4_ENST00000514278.2_Missense_Mutation_p.R430L|DDX4_ENST00000353507.5_Missense_Mutation_p.R416L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	450	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAGCTGATCGCATGTTGGAT	0.353																																																0													75	74	74					5																	55088515		2203	4300	6503	SO:0001583	missense	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1349G>T	chr5.hg19:g.55088515G>T	ENSP00000424838:p.Arg450Leu		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	hg19	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250592	0.95305	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	D;D;D;T;D;D	0.93247	-3.19;-3.19;-3.19;0.92;-3.19;-3.19	5.39	5.39	0.77823	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.061968	0.64402	D	0.000017	D	0.96904	0.8989	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	0.998;0.968;0.992;1.0	P;P;P;D	0.85130	0.901;0.717;0.842;0.997	D	0.97158	0.9836	10	0.87932	D	0	-27.4782	19.5193	0.95179	0.0:0.0:1.0:0.0	.	430;301;416;450	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	L	416;430;450;430;416;301	ENSP00000334167:R416L;ENSP00000425359:R430L;ENSP00000424838:R450L;ENSP00000427167:R430L;ENSP00000347087:R416L;ENSP00000423123:R301L	ENSP00000334167:R416L	R	+	2	0	DDX4	55124272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.405000	0.97313	2.687000	0.91594	0.561000	0.74099	CGC		0.353	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		T	55088515	G	T	55088515	3	4	480	1	0	0	0	0	1	0	0	0	4362	1087	38	4	1452	4	DDX4	5	55088515	Missense_Mutation	SNP	G	TCGA-BQ-7056-01A-11D-1961-08	19052711	55088515	125826745	12	25958											
TNPO3	23534	hgsc.bcm.edu	37	7	128641219	128641219	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr7:128641219T>C	ENST00000265388.5	-	6	909	c.766A>G	c.(766-768)Att>Gtt	p.I256V	TNPO3_ENST00000471166.1_Missense_Mutation_p.I256V|TNPO3_ENST00000471234.1_Missense_Mutation_p.I256V|TNPO3_ENST00000482320.1_Missense_Mutation_p.I190V|TNPO3_ENST00000393245.1_Missense_Mutation_p.I256V			Q9Y5L0	TNPO3_HUMAN	transportin 3	256					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ACATTCTCAATGGCATAGAGA	0.483																																					Pancreas(147;583 2585 39696 52331)											0													264	229	241					7																	128641219		2203	4300	6503	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.766A>G	chr7.hg19:g.128641219T>C	ENSP00000265388:p.Ile256Val		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	hg19	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.346233	0.24426	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	.	.	.	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	N	0.22421	0.69	0.48511	D	0.999669	B;B;B	0.27450	0.039;0.179;0.063	B;B;B	0.22386	0.018;0.039;0.039	T	0.30592	-0.9973	9	0.17369	T	0.5	.	13.9666	0.64213	0.0:0.0:0.0:1.0	.	256;256;256	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	V	256;256;190;256;256	.	ENSP00000265388:I256V	I	-	1	0	TNPO3	128428455	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.088000	0.71371	2.247000	0.74100	0.528000	0.53228	ATT		0.483	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		C	128641219	T	C	128641219	3	2	480	1	0	0	0	0	1	0	0	0	16342	1464	51	3	2073	3	TNPO3	7	128641219	Missense_Mutation	SNP	T	TCGA-BQ-7056-01A-11D-1961-08		128641219	30497444	13	25959											
RBP3	5949	hgsc.bcm.edu	37	10	48390462	48390462	+	Missense_Mutation	SNP	G	G	T	rs147118201	byFrequency	TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr10:48390462G>T	ENST00000224600.4	-	1	529	c.416C>A	c.(415-417)cCg>cAg	p.P139Q	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	139	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTCCTGGCCCGGGACGCTGTC	0.637																																																0													69	76	74					10																	48390462		2203	4300	6503	SO:0001583	missense	5949			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.416C>A	chr10.hg19:g.48390462G>T	ENSP00000224600:p.Pro139Gln		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	hg19	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440090	0.43326	.	.	ENSG00000107618	ENST00000224600	T	0.63417	-0.04	5.7	5.7	0.88788	Interphotoreceptor retinol-binding (2);	0.268394	0.38272	N	0.001741	T	0.80460	0.4627	M	0.89601	3.045	0.35549	D	0.803682	D	0.89917	1.0	D	0.97110	1.0	D	0.86547	0.1832	10	0.72032	D	0.01	-37.5679	8.3623	0.32365	0.1656:0.0:0.8344:0.0	.	139	P10745	RET3_HUMAN	Q	139	ENSP00000224600:P139Q	ENSP00000224600:P139Q	P	-	2	0	RBP3	48010468	1.000000	0.71417	0.847000	0.33407	0.010000	0.07245	5.910000	0.69931	2.705000	0.92388	0.650000	0.86243	CCG		0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		T	48390462	G	T	48390462	3	4	480	1	0	0	0	0	1	0	0	0	13163	1116	39	4	3343	4	RBP3	10	48390462	Missense_Mutation	SNP	G	TCGA-BQ-7056-01A-11D-1961-08		48390462	87144285	14	25960											
DUSP13	142891	hgsc.bcm.edu	37	10	76868897	76868897	+	5'Flank	SNP	G	G	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr10:76868897G>A	ENST00000542569.1	+	0	0				SAMD8_ENST00000372687.4_5'Flank|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607009.1_5'UTR|SAMD8_ENST00000372690.3_5'Flank|DUSP13_ENST00000372700.3_Missense_Mutation_p.P7S|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000372702.3_Missense_Mutation_p.P7S	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCAGCTCTGGGAGAGAGGTC	0.627																																																0													43	43	43					10																	76868897		2203	4300	6503	SO:0001631	upstream_gene_variant	51207			AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"Sterile alpha motif (SAM) domain containing"	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515		chr10.hg19:g.76868897G>A	Exception_encountered		Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	hg19	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302638	0.23736	.	.	ENSG00000079393	ENST00000372702;ENST00000372700	T;T	0.11495	3.76;2.77	5.91	-0.569	0.11756	.	.	.	.	.	T	0.06142	0.0159	N	0.22421	0.69	0.20703	N	0.999863	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.003	T	0.39014	-0.9634	9	0.87932	D	0	.	1.8802	0.03226	0.2904:0.1258:0.4545:0.1293	.	7;7	Q9UII6-4;Q6B8I1	.;MDSP_HUMAN	S	7	ENSP00000361787:P7S;ENSP00000361785:P7S	ENSP00000361785:P7S	P	-	1	0	DUSP13	76538903	0.461000	0.25783	0.168000	0.22838	0.265000	0.26407	0.801000	0.27055	0.117000	0.18138	-0.136000	0.14681	CCA		0.627	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		A	76868897	G	A	76868897	1	1	480	0	1	0	0	0	0	0	0	0	4815	1232	43	2		2	DUSP13	10	76868897	5'Flank	SNP	G	TCGA-BQ-7056-01A-11D-1961-08	28478435	76868897	58665850	15	25961											
ATM	472	hgsc.bcm.edu	37	11	108206609	108206609	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr11:108206609A>C	ENST00000452508.2	+	57	8378	c.8189A>C	c.(8188-8190)cAg>cCg	p.Q2730P	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.Q2730P			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2730	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTCATGCAACAGGTCTTCCAG	0.348			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													114	106	108					11																	108206609		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8189A>C	chr11.hg19:g.108206609A>C	ENSP00000388058:p.Gln2730Pro		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787127	0.90367	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.88896	-2.44;-2.44	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.96605	0.8892	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98083	1.0405	10	0.87932	D	0	.	15.7045	0.77565	1.0:0.0:0.0:0.0	.	2730	Q13315	ATM_HUMAN	P	2730	ENSP00000278616:Q2730P;ENSP00000388058:Q2730P	ENSP00000278616:Q2730P	Q	+	2	0	ATM	107711819	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.809000	0.91944	2.125000	0.65367	0.533000	0.62120	CAG		0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		C	108206609	A	C	108206609	3	2	480	1	0	0	0	0	1	0	0	0	1109	188	7	5	8407	5	ATM	11	108206609	Missense_Mutation	SNP	A	TCGA-BQ-7056-01A-11D-1961-08		108206609	26799907	16	25962											
C11orf1	64776	hgsc.bcm.edu	37	11	111753250	111753250	+	Silent	SNP	C	C	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr11:111753250C>T	ENST00000260276.3	+	2	541	c.204C>T	c.(202-204)acC>acT	p.T68T	C11orf1_ENST00000528125.1_Silent_p.T22T|C11orf1_ENST00000530214.1_Silent_p.T68T|C11orf1_ENST00000529270.1_Silent_p.T108T	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	68						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		CAAACCGTACCCTGATGGGCA	0.438																																																0													129	117	121					11																	111753250		2201	4297	6498	SO:0001819	synonymous_variant	64776			AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.204C>T	chr11.hg19:g.111753250C>T			Q6I9X7|Q9NQC6	Silent	SNP	ENST00000260276.3	hg19	CCDS8350.1																																																																																				0.438	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	NM_022761		T	111753250	C	T	111753250	2	4	480	1	0	0	0	0	0	0	0	1	1631	610	22	2		2	C11orf1	11	111753250	Silent	SNP	C	TCGA-BQ-7056-01A-11D-1961-08	3546641	111753250	23253266	17	25963											
FKBP11	51303	hgsc.bcm.edu	37	12	49319118	49319118	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr12:49319118C>G	ENST00000550765.1	-	1	492	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q	FKBP11_ENST00000444214.2_5'Flank|RP11-302B13.5_ENST00000398092.4_Intron|FKBP11_ENST00000552878.1_Missense_Mutation_p.E32Q|FKBP11_ENST00000453172.2_Missense_Mutation_p.E32Q|CCDC65_ENST00000266984.5_Intron|AC073610.5_ENST00000537495.1_Intron|Y_RNA_ENST00000364808.1_RNA	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	32					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(3)|lung(1)	5						ACGGGACTTTCGGTTTCGAGC	0.662																																																0													31	32	32					12																	49319118		2203	4298	6501	SO:0001583	missense	51303			AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"FK506 binding protein 11 (19 kDa)"			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.94G>C	chr12.hg19:g.49319118C>G	ENSP00000449751:p.Glu32Gln		B4DWB7	Missense_Mutation	SNP	ENST00000550765.1	hg19	CCDS8773.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568652	0.28003	.	.	ENSG00000134285	ENST00000550765;ENST00000552878;ENST00000453172	T;T;T	0.56611	0.46;1.2;0.45	4.58	3.69	0.42338	.	0.561459	0.16287	N	0.221075	T	0.43277	0.1240	L	0.29908	0.895	0.38062	D	0.9361	P;P	0.44690	0.841;0.746	B;B	0.43155	0.218;0.41	T	0.50792	-0.8786	10	0.87932	D	0	-14.2492	10.3341	0.43839	0.0:0.9065:0.0:0.0935	.	32;32	B4DWB7;Q9NYL4	.;FKB11_HUMAN	Q	32	ENSP00000449751:E32Q;ENSP00000447911:E32Q;ENSP00000396874:E32Q	ENSP00000256680:E32Q	E	-	1	0	FKBP11	47605385	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	4.451000	0.60047	1.299000	0.44798	0.561000	0.74099	GAA		0.662	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594		G	49319118	C	G	49319118	3	3	480	1	0	0	0	0	1	0	0	0	5905	893	31	4	592	4	FKBP11	12	49319118	Missense_Mutation	SNP	C	TCGA-BQ-7056-01A-11D-1961-08		49319118	84532777	18	25964											
TARBP2	7786	hgsc.bcm.edu	37	12	53895924	53895925	+	5'Flank	INS	-	-	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr12:53895924_53895925insT	ENST00000267079.2	-	0	0				TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.N40fs|TARBP2_ENST00000549028.1_3'UTR|MAP3K12_ENST00000547488.1_5'Flank|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.N40fs|MAP3K12_ENST00000547151.1_5'Flank|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000266987.2_Frame_Shift_Ins_p.N61fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GCCCACCAGCCTAATTTCACCT	0.599																																																0																																										SO:0001631	upstream_gene_variant	6895			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854		chr12.hg19:g.53895925_53895925dupT	Exception_encountered		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Frame_Shift_Ins	INS	ENST00000267079.2	hg19	CCDS8860.1																																																																																				0.599	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		T	53895925	-	T	53895924	6	5	480	0	1	1	1	0	0	0	0	0	15561	681	24	0		0	TARBP2	12	53895924	5'Flank	INS	-	TCGA-BQ-7056-01A-11D-1961-08	4576806	53895924	79955971	19	25965											
C12orf64	283310	hgsc.bcm.edu	37	12	80626779	80626779	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr12:80626779G>A	ENST00000547103.1	+	8	698	c.692G>A	c.(691-693)gGg>gAg	p.G231E	OTOGL_ENST00000458043.2_Missense_Mutation_p.G231E			Q3ZCN5	OTOGL_HUMAN	otogelin-like	231	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGGATATCTGGGATCTACCTC	0.413																																																0													92	89	90					12																	80626779		1872	4109	5981	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.692G>A	chr12.hg19:g.80626779G>A	ENSP00000447211:p.Gly231Glu		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.5	4.419978	0.83559	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.58506	0.33;0.33	5.92	5.02	0.67125	.	.	.	.	.	T	0.67429	0.2892	L	0.52905	1.665	0.58432	D	0.999999	.	.	.	.	.	.	T	0.68720	-0.5334	7	0.51188	T	0.08	.	17.0842	0.86606	0.0:0.1269:0.873:0.0	.	.	.	.	E	231	ENSP00000447211:G231E;ENSP00000400895:G231E	ENSP00000400895:G231E	G	+	2	0	OTOGL	79150910	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	6.419000	0.73345	1.480000	0.48289	0.650000	0.86243	GGG		0.413	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		A	80626779	G	A	80626779	3	1	480	1	0	0	0	0	1	0	0	0	1709	1232	43	2	722	2	C12orf64	12	80626779	Missense_Mutation	SNP	G	TCGA-BQ-7056-01A-11D-1961-08	26730855	80626779	53225116	20	25966											
TCL1B	9623	hgsc.bcm.edu	37	14	96152848	96152848	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr14:96152848G>A	ENST00000340722.7	+	1	95	c.44G>A	c.(43-45)cGt>cAt	p.R15H	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	15										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCCCCTGGCCGTCTGTGGATC	0.627																																																0													93	95	94					14																	96152848		2203	4300	6503	SO:0001583	missense	9623			AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.44G>A	chr14.hg19:g.96152848G>A	ENSP00000343223:p.Arg15His		A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	hg19	CCDS32151.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705553	0.30232	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.32272	1.46	2.78	-0.328	0.12690	.	.	.	.	.	T	0.27798	0.0684	L	0.31664	0.95	0.09310	N	1	D	0.64830	0.994	P	0.58520	0.84	T	0.18713	-1.0328	9	0.15499	T	0.54	.	3.386	0.07272	0.1377:0.0:0.411:0.4513	.	15	O95988	TCL1B_HUMAN	H	15	ENSP00000343223:R15H	ENSP00000343223:R15H	R	+	2	0	TCL1B	95222601	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.684000	0.05173	-0.071000	0.12886	0.455000	0.32223	CGT		0.627	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			A	96152848	G	A	96152848	3	1	480	1	0	0	0	0	1	0	0	0	15710	1145	40	1	46	1	TCL1B	14	96152848	Missense_Mutation	SNP	G	TCGA-BQ-7056-01A-11D-1961-08		96152848	11196692	21	25967											
HERC1	8925	hgsc.bcm.edu	37	15	63978661	63978661	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr15:63978661T>C	ENST00000443617.2	-	34	6209	c.6122A>G	c.(6121-6123)cAg>cGg	p.Q2041R	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2041	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAGGCAACACTGAGCTTTCTC	0.473																																																0													177	178	178					15																	63978661		1955	4150	6105	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6122A>G	chr15.hg19:g.63978661T>C	ENSP00000390158:p.Gln2041Arg		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.733306	0.69189	.	.	ENSG00000103657	ENST00000443617	T	0.60040	0.22	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	T	0.37320	0.0999	N	0.08118	0	0.47698	D	0.999492	P	0.38978	0.652	B	0.33295	0.161	T	0.42749	-0.9433	10	0.48119	T	0.1	.	15.8367	0.78805	0.0:0.0:0.0:1.0	.	2041	Q15751	HERC1_HUMAN	R	2041	ENSP00000390158:Q2041R	ENSP00000390158:Q2041R	Q	-	2	0	HERC1	61765714	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.268000	0.51585	2.142000	0.66516	0.533000	0.62120	CAG		0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		C	63978661	T	C	63978661	3	2	480	1	0	0	0	0	1	0	0	0	7059	1580	55	3	8643	3	HERC1	15	63978661	Missense_Mutation	SNP	T	TCGA-BQ-7056-01A-11D-1961-08		63978661	38552731	22	25968											
ALPK3	57538	hgsc.bcm.edu	37	15	85400008	85400009	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr15:85400008_85400009insA	ENST00000258888.5	+	6	2812_2813	c.2645_2646insA	c.(2644-2649)atacagfs	p.Q883fs		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	883					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGTGAGAAGATACAGGAAGACA	0.554																																																0																																										SO:0001589	frameshift_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2646dupA	chr15.hg19:g.85400009_85400009dupA	ENSP00000258888:p.Gln883fs		Q9P2L6	Frame_Shift_Ins	INS	ENST00000258888.5	hg19	CCDS10333.1																																																																																				0.554	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		A	85400009	-	A	85400008	7	5	480	1	0	1	1	0	0	0	0	0	546	1406	49	0	2667	0	ALPK3	15	85400008	Frame_Shift_Ins	INS	-	TCGA-BQ-7056-01A-11D-1961-08	21421347	85400008	17131384	23	25969											
NFAT5	10725	hgsc.bcm.edu	37	16	69718811	69718811	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr16:69718811T>C	ENST00000354436.2	+	10	1976	c.1658T>C	c.(1657-1659)gTa>gCa	p.V553A	NFAT5_ENST00000349945.1_Missense_Mutation_p.V477A|NFAT5_ENST00000567239.1_Missense_Mutation_p.V570A|NFAT5_ENST00000432919.1_Missense_Mutation_p.V571A|NFAT5_ENST00000393742.2_Missense_Mutation_p.V477A|NFAT5_ENST00000566899.1_Missense_Mutation_p.V477A	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	553					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						GCTTTGAATGTAAATGTGAAG	0.323																																																0													67	72	70					16																	69718811		2197	4300	6497	SO:0001583	missense	10725			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.1658T>C	chr16.hg19:g.69718811T>C	ENSP00000346420:p.Val553Ala		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	hg19	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.169644	0.57584	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.46451	0.88;0.88;0.87;0.88	5.31	5.31	0.75309	Immunoglobulin E-set (1);	0.122950	0.53938	D	0.000041	T	0.48484	0.1502	L	0.56769	1.78	0.58432	D	0.999999	B;P;B;P	0.49185	0.001;0.92;0.021;0.907	B;B;B;P	0.50490	0.003;0.439;0.013;0.642	T	0.39014	-0.9634	10	0.16896	T	0.51	.	15.2702	0.73696	0.0:0.0:0.0:1.0	.	570;553;571;477	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	A	571;570;477;553;477	ENSP00000396538:V571A;ENSP00000338806:V477A;ENSP00000346420:V553A;ENSP00000377343:V477A	ENSP00000338806:V477A	V	+	2	0	NFAT5	68276312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.036000	0.64164	2.011000	0.59026	0.528000	0.53228	GTA		0.323	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		C	69718811	T	C	69718811	3	2	480	1	0	0	0	0	1	0	0	0	10362	1638	57	3	1754	3	NFAT5	16	69718811	Missense_Mutation	SNP	T	TCGA-BQ-7056-01A-11D-1961-08		69718811	20635942	24	25970											
DNAH9	1770	hgsc.bcm.edu	37	17	11520831	11520831	+	Silent	SNP	G	G	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr17:11520831G>C	ENST00000262442.4	+	5	1076	c.1008G>C	c.(1006-1008)cgG>cgC	p.R336R	DNAH9_ENST00000454412.2_Silent_p.R336R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	336	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCAGCTGCGGCCCCTGCTCC	0.592																																																0													57	53	54					17																	11520831		2203	4300	6503	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1008G>C	chr17.hg19:g.11520831G>C			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	hg19	CCDS11160.1																																																																																				0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		C	11520831	G	C	11520831	2	2	480	1	0	0	0	0	0	0	0	1	4610	1190	42	4		4	DNAH9	17	11520831	Silent	SNP	G	TCGA-BQ-7056-01A-11D-1961-08		11520831	69674379	25	25971											
DDX5	1655	hgsc.bcm.edu	37	17	62498660	62498660	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr17:62498660G>C	ENST00000225792.5	-	9	1392	c.991C>G	c.(991-993)Cgt>Ggt	p.R331G	DDX5_ENST00000450599.2_Missense_Mutation_p.R252G|DDX5_ENST00000580026.1_5'Flank|MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.R331G	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	331	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCATTAGACGAATAAGTCTA	0.353			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													86	82	83					17																	62498660		2203	4300	6503	SO:0001583	missense	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.991C>G	chr17.hg19:g.62498660G>C	ENSP00000225792:p.Arg331Gly		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	hg19	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918794	0.52546	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.91	5.91	0.95273	Helicase, C-terminal (1);	0.096682	0.85682	D	0.000000	T	0.54078	0.1836	N	0.25060	0.705	0.80722	D	1	B;B;B;B	0.14012	0.001;0.009;0.009;0.009	B;B;B;B	0.17979	0.008;0.02;0.02;0.02	T	0.48681	-0.9014	9	0.62326	D	0.03	-11.1323	20.2985	0.98592	0.0:0.0:1.0:0.0	.	252;331;320;331	B4DLW8;B5BUE6;B4DN41;P17844	.;.;.;DDX5_HUMAN	G	331;261;320	.	ENSP00000225792:R320G	R	-	1	0	DDX5	59929122	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.292000	0.96076	2.793000	0.96121	0.655000	0.94253	CGT		0.353	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		C	62498660	G	C	62498660	3	2	480	1	0	0	0	0	1	0	0	0	4369	1058	37	4	873	4	DDX5	17	62498660	Missense_Mutation	SNP	G	TCGA-BQ-7056-01A-11D-1961-08	50977829	62498660	18696550	26	25972											
RALBP1	10928	hgsc.bcm.edu	37	18	9535719	9535719	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr18:9535719C>G	ENST00000019317.4	+	10	1975	c.1752C>G	c.(1750-1752)atC>atG	p.I584M	RALBP1_ENST00000383432.3_Missense_Mutation_p.I584M			Q15311	RBP1_HUMAN	ralA binding protein 1	584					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GCGAGGCCATCATCGAGCTGC	0.582																																																0													20	18	18					18																	9535719		2203	4299	6502	SO:0001583	missense	10928			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1752C>G	chr18.hg19:g.9535719C>G	ENSP00000019317:p.Ile584Met		D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	hg19	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311613	0.60414	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.12879	2.64;2.64	5.01	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.17916	0.0430	L	0.59436	1.845	0.58432	D	0.999995	P	0.45474	0.859	B	0.42653	0.394	T	0.01935	-1.1244	10	0.66056	D	0.02	-13.417	13.4422	0.61119	0.0:0.9242:0.0:0.0758	.	584	Q15311	RBP1_HUMAN	M	584	ENSP00000019317:I584M;ENSP00000372924:I584M	ENSP00000019317:I584M	I	+	3	3	RALBP1	9525719	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	2.717000	0.47227	1.237000	0.43756	0.655000	0.94253	ATC		0.582	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		G	9535719	C	G	9535719	3	3	480	1	0	0	0	0	1	0	0	0	13018	816	29	4	1786	4	RALBP1	18	9535719	Missense_Mutation	SNP	C	TCGA-BQ-7056-01A-11D-1961-08		9535719	68541529	27	25973											
ADAMTS10	81794	hgsc.bcm.edu	37	19	8661946	8661946	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr19:8661946A>C	ENST00000597188.1	-	8	1235	c.965T>G	c.(964-966)gTg>gGg	p.V322G	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V322G|ADAMTS10_ENST00000596709.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	322	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCTGTGGTTCACGATGGATTT	0.572																																																0													102	89	93					19																	8661946		2203	4300	6503	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.965T>G	chr19.hg19:g.8661946A>C	ENSP00000471851:p.Val322Gly		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	hg19	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074561	0.55646	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.64438	-0.1	5.4	5.4	0.78164	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.175593	0.38663	U	0.001601	T	0.49236	0.1545	N	0.20685	0.6	0.80722	D	1	P	0.38729	0.644	B	0.39771	0.309	T	0.47837	-0.9086	10	0.26408	T	0.33	.	14.5981	0.68422	1.0:0.0:0.0:0.0	.	322	Q9H324	ATS10_HUMAN	G	322;76	ENSP00000270328:V322G	ENSP00000270328:V322G	V	-	2	0	ADAMTS10	8567946	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.354000	0.66040	2.036000	0.60181	0.460000	0.39030	GTG		0.572	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		C	8661946	A	C	8661946	3	2	480	1	0	0	0	0	1	0	0	0	256	159	6	5	2422	5	ADAMTS10	19	8661946	Missense_Mutation	SNP	A	TCGA-BQ-7056-01A-11D-1961-08		8661946	50467037	28	25974											
SIPA1L3	23094	hgsc.bcm.edu	37	19	38621327	38621327	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr19:38621327C>G	ENST00000222345.6	+	10	3567	c.3058C>G	c.(3058-3060)Cac>Gac	p.H1020D		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1020	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CACACTGACCCACGACCAGAT	0.642																																																0													72	63	66					19																	38621327		2203	4300	6503	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3058C>G	chr19.hg19:g.38621327C>G	ENSP00000222345:p.His1020Asp		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	hg19	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849035	0.91277	.	.	ENSG00000105738	ENST00000222345	T	0.64085	-0.08	5.21	5.21	0.72293	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	D	0.83635	0.5297	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.87360	0.2343	10	0.87932	D	0	-32.8671	17.8767	0.88827	0.0:1.0:0.0:0.0	.	1020	O60292	SI1L3_HUMAN	D	1020	ENSP00000222345:H1020D	ENSP00000222345:H1020D	H	+	1	0	SIPA1L3	43313167	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.770000	0.85390	2.590000	0.87494	0.563000	0.77884	CAC		0.642	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		G	38621327	C	G	38621327	3	3	480	1	0	0	0	0	1	0	0	0	14337	594	21	4	3088	4	SIPA1L3	19	38621327	Missense_Mutation	SNP	C	TCGA-BQ-7056-01A-11D-1961-08	29959381	38621327	20507656	29	25975											
ZNF404	342908	hgsc.bcm.edu	37	19	44377748	44377748	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr19:44377748C>G	ENST00000587539.1	-	3	617	c.618G>C	c.(616-618)caG>caC	p.Q206H	ZNF404_ENST00000324394.6_Missense_Mutation_p.Q204H	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TATGAATTATCTGATGCTGAA	0.368																																																0													87	92	90					19																	44377748		2095	4252	6347	SO:0001583	missense	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.618G>C	chr19.hg19:g.44377748C>G	ENSP00000466051:p.Gln206His		A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	hg19	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252356	0.39797	.	.	ENSG00000176222	ENST00000324394	T	0.18502	2.21	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31949	0.0813	M	0.77820	2.39	0.23351	N	0.997856	D	0.54207	0.965	P	0.58928	0.848	T	0.14254	-1.0479	9	0.52906	T	0.07	.	3.4705	0.07565	0.2546:0.6054:0.0:0.1399	.	206	Q494X3	ZN404_HUMAN	H	204	ENSP00000319479:Q204H	ENSP00000319479:Q204H	Q	-	3	2	ZNF404	49069588	0.564000	0.26602	1.000000	0.80357	0.979000	0.70002	1.602000	0.36783	1.519000	0.48950	0.404000	0.27445	CAG		0.368	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		G	44377748	C	G	44377748	3	3	480	1	0	0	0	0	1	0	0	0	17891	912	32	4	1044	4	ZNF404	19	44377748	Missense_Mutation	SNP	C	TCGA-BQ-7056-01A-11D-1961-08	5756421	44377748	14751235	30	25976											
ZNF578	147660	hgsc.bcm.edu	37	19	53014896	53014896	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr19:53014896A>C	ENST00000421239.2	+	6	1506	c.1262A>C	c.(1261-1263)cAt>cCt	p.H421P	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CATAGACTTCATACTGGAGAG	0.383																																																0													81	85	84					19																	53014896		2203	4300	6503	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1262A>C	chr19.hg19:g.53014896A>C	ENSP00000459216:p.His421Pro		B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	hg19	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	14.26	2.481441	0.44147	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	1.48	0.22813	.	.	.	.	.	T	0.77685	0.4167	H	0.95950	3.745	0.30406	N	0.779575	D	0.57571	0.98	D	0.77004	0.989	T	0.72912	-0.4148	7	.	.	.	.	7.9426	0.29967	1.0:0.0:0.0:0.0	.	421	G3V4F6	.	P	421	.	.	H	+	2	0	ZNF578	57706708	0.998000	0.40836	0.005000	0.12908	0.050000	0.14768	6.983000	0.76180	0.696000	0.31696	0.246000	0.17985	CAT		0.383	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		C	53014896	A	C	53014896	3	2	480	1	0	0	0	0	1	0	0	0	18015	217	8	5	1272	5	ZNF578	19	53014896	Missense_Mutation	SNP	A	TCGA-BQ-7056-01A-11D-1961-08	8637148	53014896	6114087	31	25977											
CHD6	84181	hgsc.bcm.edu	37	20	40053940	40053940	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr20:40053940G>C	ENST00000373233.3	-	29	4401	c.4224C>G	c.(4222-4224)tgC>tgG	p.C1408W		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1408					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTTGCGGTTGCAGCGCTGGT	0.552																																																0													85	76	79					20																	40053940		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4224C>G	chr20.hg19:g.40053940G>C	ENSP00000362330:p.Cys1408Trp		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	hg19	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748438	0.69533	.	.	ENSG00000124177	ENST00000373233	T	0.79352	-1.26	5.66	-0.168	0.13343	.	0.000000	0.64402	D	0.000003	T	0.80742	0.4681	M	0.63428	1.95	0.80722	D	1	D	0.57257	0.979	P	0.57776	0.827	T	0.78790	-0.2066	10	0.51188	T	0.08	-12.621	10.7656	0.46292	0.3652:0.0:0.6348:0.0	.	1408	Q8TD26	CHD6_HUMAN	W	1408	ENSP00000362330:C1408W	ENSP00000362330:C1408W	C	-	3	2	CHD6	39487354	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	3.947000	0.56652	0.047000	0.15862	-0.136000	0.14681	TGC		0.552	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			C	40053940	G	C	40053940	3	2	480	1	0	0	0	0	1	0	0	0	3331	1311	46	4	3959	4	CHD6	20	40053940	Missense_Mutation	SNP	G	TCGA-BQ-7056-01A-11D-1961-08		40053940	22971580	32	25978											
TRIT1	54802	hgsc.bcm.edu	37	1	40307511	40307511	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:40307511T>C	ENST00000316891.5	-	11	1323	c.1309A>G	c.(1309-1311)Ata>Gta	p.I437V	TRIT1_ENST00000541099.1_Missense_Mutation_p.I55V|TRIT1_ENST00000372818.1_Missense_Mutation_p.I411V|TRIT1_ENST00000537440.1_Missense_Mutation_p.I133V|TRIT1_ENST00000537223.1_Missense_Mutation_p.I133V|TRIT1_ENST00000441669.2_Missense_Mutation_p.I355V|TRIT1_ENST00000545233.1_Missense_Mutation_p.I191V|TRIT1_ENST00000491865.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	437					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGACTTTCTATGGTGTTGACA	0.418																																																0													266	252	257					1																	40307511		2203	4300	6503	SO:0001583	missense	54802			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1309A>G	chr1.hg19:g.40307511T>C	ENSP00000321810:p.Ile437Val		A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	hg19	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	T	0.782	-0.761836	0.02996	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000545233;ENST00000537440;ENST00000537223;ENST00000541099	T;T	0.41065	1.02;1.01	5.67	-5.07	0.02938	.	2.410530	0.01192	N	0.007346	T	0.21761	0.0524	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.06463	-1.0825	10	0.20519	T	0.43	0.246	1.1747	0.01832	0.3107:0.2806:0.0931:0.3157	.	437;411;355;133	Q9H3H1;Q9H3H1-4;Q9H3H1-5;Q3T7B5	MOD5_HUMAN;.;.;.	V	411;355;349;437;411;330;191;133;133;55	ENSP00000321810:I437V;ENSP00000361905:I411V	ENSP00000046894:I411V	I	-	1	0	TRIT1	40080098	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.878000	0.04192	-0.471000	0.06891	-0.242000	0.12053	ATA		0.418	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		C	40307511	T	C	40307511	3	2	481	1	0	0	0	0	1	0	0	0	16565	1464	51	3	98	3	TRIT1	1	40307511	Missense_Mutation	SNP	T	TCGA-BQ-7058-01A-11D-1961-08		40307511	208943110	1	25979											
MIER1	57708	hgsc.bcm.edu	37	1	67423741	67423741	+	Splice_Site	SNP	G	G	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:67423741G>C	ENST00000355356.3	+	4	329		c.e4-1		MIER1_ENST00000371014.1_Splice_Site|MIER1_ENST00000401041.1_Splice_Site|MIER1_ENST00000357692.2_Splice_Site|MIER1_ENST00000355977.6_Splice_Site|MIER1_ENST00000479067.1_Splice_Site|MIER1_ENST00000371016.1_Splice_Site|MIER1_ENST00000371018.3_Splice_Site|MIER1_ENST00000401042.3_Splice_Site	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator						positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GATTTATTTAGGAAGGCGACA	0.373																																																0													87	80	82					1																	67423741		1874	4116	5990	SO:0001630	splice_region_variant	57708				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.181-1G>C	chr1.hg19:g.67423741G>C			C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Splice_Site	SNP	ENST00000355356.3	hg19	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468581	0.63625	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8992	0.96978	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MIER1	67196329	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	8.843000	0.92142	2.789000	0.95967	0.591000	0.81541	.		0.373	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948	Intron	C	67423741	G	C	67423741	5	2	481	1	0	0	0	0	0	0	1	0	9582	1014	35	4	434	4	MIER1	1	67423741	Splice_Site	SNP	G	TCGA-BQ-7058-01A-11D-1961-08	27116230	67423741	181826880	2	25980											
ARHGAP29	9411	hgsc.bcm.edu	37	1	94668261	94668261	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:94668261C>A	ENST00000260526.6	-	11	1164	c.982G>T	c.(982-984)Gca>Tca	p.A328S	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.A328S	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	328					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AATAATTTTGCCTTTTTGAGA	0.388																																																0													145	130	135					1																	94668261		2203	4300	6503	SO:0001583	missense	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.982G>T	chr1.hg19:g.94668261C>A	ENSP00000260526:p.Ala328Ser		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	hg19	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652915	0.88056	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.47869	0.83;0.83	6.06	5.16	0.70880	.	0.000000	0.38381	N	0.001718	T	0.58278	0.2111	M	0.69358	2.11	0.58432	D	0.999999	P;D	0.89917	0.944;1.0	P;D	0.83275	0.646;0.996	T	0.60622	-0.7227	10	0.41790	T	0.15	-25.713	15.6619	0.77193	0.0:0.9344:0.0:0.0656	.	328;328	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	S	328	ENSP00000260526:A328S;ENSP00000359237:A328S	ENSP00000260526:A328S	A	-	1	0	ARHGAP29	94440849	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.054000	0.76649	1.578000	0.49821	0.650000	0.86243	GCA		0.388	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		A	94668261	C	A	94668261	3	1	481	1	0	0	0	0	1	0	0	0	878	739	26	4	2855	4	ARHGAP29	1	94668261	Missense_Mutation	SNP	C	TCGA-BQ-7058-01A-11D-1961-08	27244520	94668261	154582360	3	25981											
BCL9	607	hgsc.bcm.edu	37	1	147086309	147086309	+	Silent	SNP	A	A	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:147086309A>C	ENST00000234739.3	+	6	1194	c.454A>C	c.(454-456)Agg>Cgg	p.R152R	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	152					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TACAGCCCCCAGGTCTTCTAC	0.498			T	"IGH@, IGL@"	B-ALL																																		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													118	119	119					1																	147086309		2203	4300	6503	SO:0001819	synonymous_variant	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.454A>C	chr1.hg19:g.147086309A>C			Q5T489	Silent	SNP	ENST00000234739.3	hg19	CCDS30833.1																																																																																				0.498	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		C	147086309	A	C	147086309	2	2	481	1	0	0	0	0	0	0	0	1	1381	179	7	5		5	BCL9	1	147086309	Silent	SNP	A	TCGA-BQ-7058-01A-11D-1961-08	52418048	147086309	102164312	4	25982											
BCL9	607	hgsc.bcm.edu	37	1	147086367	147086367	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:147086367A>G	ENST00000234739.3	+	6	1252	c.512A>G	c.(511-513)aAg>aGg	p.K171R	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	171					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCTGCTCAGAAGACTCCAGCC	0.537			T	"IGH@, IGL@"	B-ALL																																		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													106	100	102					1																	147086367		2203	4300	6503	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.512A>G	chr1.hg19:g.147086367A>G	ENSP00000234739:p.Lys171Arg		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	hg19	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492914	0.84962	.	.	ENSG00000116128	ENST00000234739	T	0.63580	-0.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	L	0.41824	1.3	0.58432	D	0.999993	D;D	0.63880	0.993;0.993	D;D	0.72625	0.978;0.978	T	0.63598	-0.6601	10	0.36615	T	0.2	-20.3683	15.8615	0.79026	1.0:0.0:0.0:0.0	.	171;171	Q1JQ81;O00512	.;BCL9_HUMAN	R	171	ENSP00000234739:K171R	ENSP00000234739:K171R	K	+	2	0	BCL9	145552991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.962000	0.76048	2.333000	0.79357	0.533000	0.62120	AAG		0.537	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		G	147086367	A	G	147086367	3	3	481	1	0	0	0	0	1	0	0	0	1381	72	3	3	522	3	BCL9	1	147086367	Missense_Mutation	SNP	A	TCGA-BQ-7058-01A-11D-1961-08	58	147086367	102164254	5	25983											
KPRP	448834	hgsc.bcm.edu	37	1	152733695	152733695	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:152733695G>A	ENST00000606109.1	+	1	1659	c.1631G>A	c.(1630-1632)gGc>gAc	p.G544D	KPRP_ENST00000368773.1_Missense_Mutation_p.G544D			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	544						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGGTGCTGGCTGTGGGCCT	0.577																																																0													78	72	74					1																	152733695		2203	4300	6503	SO:0001583	missense	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1631G>A	chr1.hg19:g.152733695G>A	ENSP00000475216:p.Gly544Asp			Missense_Mutation	SNP	ENST00000606109.1	hg19	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224172	0.58668	.	.	ENSG00000203786	ENST00000368773	T	0.12672	2.66	3.95	3.03	0.35002	.	0.773292	0.11405	N	0.567368	T	0.05181	0.0138	L	0.40543	1.245	0.09310	N	1	P	0.44044	0.825	B	0.41691	0.364	T	0.28170	-1.0052	10	0.51188	T	0.08	-1.4837	7.7874	0.29099	0.114:0.0:0.886:0.0	.	544	Q5T749	KPRP_HUMAN	D	544	ENSP00000357762:G544D	ENSP00000357762:G544D	G	+	2	0	KPRP	151000319	0.168000	0.22989	0.022000	0.16811	0.516000	0.34256	0.680000	0.25306	1.243000	0.43853	0.313000	0.20887	GGC		0.577	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		A	152733695	G	A	152733695	3	1	481	1	0	0	0	0	1	0	0	0	8438	1203	42	2	1633	2	KPRP	1	152733695	Missense_Mutation	SNP	G	TCGA-BQ-7058-01A-11D-1961-08	5647328	152733695	96516926	6	25984											
NLRP3	114548	hgsc.bcm.edu	37	1	247597496	247597496	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:247597496G>T	ENST00000336119.3	+	5	3165	c.2419G>T	c.(2419-2421)Gac>Tac	p.D807Y	NLRP3_ENST00000391827.2_Missense_Mutation_p.D750Y|NLRP3_ENST00000348069.2_Missense_Mutation_p.D750Y|NLRP3_ENST00000366496.2_Missense_Mutation_p.D807Y|NLRP3_ENST00000366497.2_Missense_Mutation_p.D807Y|NLRP3_ENST00000391828.3_Missense_Mutation_p.D807Y	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	807					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGACCTGAGTGACAACGCCCT	0.577																																																0													136	123	127					1																	247597496		2203	4300	6503	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2419G>T	chr1.hg19:g.247597496G>T	ENSP00000337383:p.Asp807Tyr		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	hg19	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	g	1.230	-0.624429	0.03636	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;D;T;D	0.87729	0.56;0.63;0.56;-2.29;0.63;-2.29	3.44	1.55	0.23275	.	0.684628	0.12798	N	0.438274	T	0.69369	0.3103	N	0.13198	0.31	0.09310	N	0.999996	B;B;B;B;B	0.33826	0.427;0.004;0.279;0.013;0.015	B;B;B;B;B	0.34301	0.179;0.01;0.086;0.043;0.012	T	0.61153	-0.7120	10	0.02654	T	1	.	4.9238	0.13883	0.1408:0.2854:0.5737:0.0	.	787;750;750;807;807	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	Y	807;807;807;750;807;750	ENSP00000375704:D807Y;ENSP00000355453:D807Y;ENSP00000337383:D807Y;ENSP00000294752:D750Y;ENSP00000355452:D807Y;ENSP00000375703:D750Y	ENSP00000337383:D807Y	D	+	1	0	NLRP3	245664119	0.000000	0.05858	0.947000	0.38551	0.104000	0.19210	-1.135000	0.03225	0.475000	0.27415	0.472000	0.43445	GAC		0.577	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		T	247597496	G	T	247597496	3	4	481	1	0	0	0	0	1	0	0	0	10480	1290	45	4	2437	4	NLRP3	1	247597496	Missense_Mutation	SNP	G	TCGA-BQ-7058-01A-11D-1961-08	94863801	247597496	1653125	7	25985											
HEATR5B	54497	hgsc.bcm.edu	37	2	37280725	37280725	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:37280725C>A	ENST00000233099.5	-	17	2520	c.2425G>T	c.(2425-2427)Gaa>Taa	p.E809*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.E809*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	809						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTAACACATTCAGCAAAGTGA	0.328																																																0													51	52	52					2																	37280725		2203	4300	6503	SO:0001587	stop_gained	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2425G>T	chr2.hg19:g.37280725C>A	ENSP00000233099:p.Glu809*		B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	hg19	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	42	9.667231	0.99233	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-27.7923	20.1736	0.98170	0.0:1.0:0.0:0.0	.	.	.	.	X	809	.	ENSP00000233099:E809X	E	-	1	0	HEATR5B	37134229	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.771000	0.85420	2.767000	0.95098	0.557000	0.71058	GAA		0.328	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		A	37280725	C	A	37280725	4	1	481	1	0	0	0	0	0	1	0	0	7034	835	29	4	3870	4	HEATR5B	2	37280725	Nonsense_Mutation	SNP	C	TCGA-BQ-7058-01A-11D-1961-08		37280725	205918648	8	25986											
RANBP2	5903	hgsc.bcm.edu	37	2	109379713	109379713	+	Silent	SNP	T	T	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:109379713T>C	ENST00000283195.6	+	20	2844	c.2718T>C	c.(2716-2718)aaT>aaC	p.N906N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	906					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATGGCATGAATAGGCTTCCAC	0.413																																																0													76	72	73					2																	109379713		2203	4300	6503	SO:0001819	synonymous_variant	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2718T>C	chr2.hg19:g.109379713T>C			Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	hg19	CCDS2079.1																																																																																				0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		C	109379713	T	C	109379713	2	2	481	1	0	0	0	0	0	0	0	1	13034	1403	49	3		3	RANBP2	2	109379713	Silent	SNP	T	TCGA-BQ-7058-01A-11D-1961-08	72098988	109379713	133819660	9	25987											
SLC40A1	30061	hgsc.bcm.edu	37	2	190428774	190428774	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:190428774C>G	ENST00000261024.2	-	7	1364	c.938G>C	c.(937-939)gGt>gCt	p.G313A		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	313					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAAAGCAAGACCCATGCCAGC	0.527																																																0													109	88	95					2																	190428774		2203	4300	6503	SO:0001583	missense	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.938G>C	chr2.hg19:g.190428774C>G	ENSP00000261024:p.Gly313Ala		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	hg19	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246458	0.59103	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.92752	-3.1	6.16	3.02	0.34903	Major facilitator superfamily domain, general substrate transporter (1);	0.199649	0.53938	N	0.000049	T	0.82102	0.4964	N	0.16903	0.455	0.49915	D	0.999833	P	0.34826	0.471	B	0.35470	0.203	T	0.79320	-0.1852	10	0.02654	T	1	-15.2428	12.8928	0.58082	0.1134:0.5621:0.3246:0.0	.	313	Q9NP59	S40A1_HUMAN	A	313;48	ENSP00000261024:G313A	ENSP00000261024:G313A	G	-	2	0	SLC40A1	190137019	0.713000	0.27926	1.000000	0.80357	0.999000	0.98932	1.166000	0.31834	1.561000	0.49584	0.650000	0.86243	GGT		0.527	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			G	190428774	C	G	190428774	3	3	481	1	0	0	0	0	1	0	0	0	14634	507	18	4	785	4	SLC40A1	2	190428774	Missense_Mutation	SNP	C	TCGA-BQ-7058-01A-11D-1961-08	81049061	190428774	52770599	10	25988											
VPRBP	9730	hgsc.bcm.edu	37	3	51456171	51456171	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr3:51456171G>T	ENST00000335891.5	-	8	2058	c.2049C>A	c.(2047-2049)aaC>aaA	p.N683K				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1132					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGTTGTGACAGTTATAGCTGG	0.502																																																0													135	138	137					3																	51456171		2033	4194	6227	SO:0001583	missense	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2049C>A	chr3.hg19:g.51456171G>T	ENSP00000338857:p.Asn683Lys		Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	hg19		.	.	.	.	.	.	.	.	.	.	G	13.79	2.340869	0.41498	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.01240	5.12;5.12	5.99	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.127622	0.64402	D	0.000001	T	0.01156	0.0038	L	0.31926	0.97	0.58432	D	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.45614	-0.9249	10	0.07175	T	0.84	-19.5801	6.0918	0.19999	0.2259:0.1364:0.6376:0.0	.	1132	Q9Y4B6	VPRBP_HUMAN	K	703;683	ENSP00000393183:N703K;ENSP00000338857:N683K	ENSP00000338857:N683K	N	-	3	2	VPRBP	51431211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.575000	0.46025	1.377000	0.46286	0.655000	0.94253	AAC		0.502	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		T	51456171	G	T	51456171	3	4	481	1	0	0	0	0	1	0	0	0	17190	1020	36	4	1167	4	VPRBP	3	51456171	Missense_Mutation	SNP	G	TCGA-BQ-7058-01A-11D-1961-08		51456171	146566259	11	25989											
PBRM1	55193	hgsc.bcm.edu	37	3	52584609	52584609	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr3:52584609A>T	ENST00000296302.7	-	29	4726	c.4725T>A	c.(4723-4725)taT>taA	p.Y1575*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y1468*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Y1488*|RNU6-856P_ENST00000516959.1_RNA|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y1483*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y1495*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y1468*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y1538*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y1520*			Q86U86	PB1_HUMAN	polybromo 1	1575	Pro-rich.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTGGGCCGGGATATGGAGGTG	0.572			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													81	84	83					3																	52584609		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4725T>A	chr3.hg19:g.52584609A>T	ENSP00000296302:p.Tyr1575*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	hg19		.	.	.	.	.	.	.	.	.	.	A	43	9.940619	0.99300	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767	.	.	.	5.93	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.079	8.842	0.35148	0.7955:0.0:0.2045:0.0	.	.	.	.	X	1488;1468;1575;1468;1520;1495;1538;1483	.	ENSP00000296302:Y1575X	Y	-	3	2	PBRM1	52559649	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.050000	0.30404	1.087000	0.41251	-0.250000	0.11733	TAT		0.572	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52584609	A	T	52584609	4	4	481	1	0	0	0	0	0	1	0	0	11493	340	12	5	352	5	PBRM1	3	52584609	Nonsense_Mutation	SNP	A	TCGA-BQ-7058-01A-11D-1961-08	1128438	52584609	145437821	12	25990											
COL8A1	1295	hgsc.bcm.edu	37	3	99513269	99513269	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr3:99513269C>T	ENST00000261037.3	+	5	904	c.524C>T	c.(523-525)cCt>cTt	p.P175L	COL8A1_ENST00000273342.4_Missense_Mutation_p.P175L	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	175	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGGGCATGCCTGGGGCAAAA	0.552																																																0													44	48	46					3																	99513269		2203	4300	6503	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.524C>T	chr3.hg19:g.99513269C>T	ENSP00000261037:p.Pro175Leu		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	hg19	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294831	0.40594	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.96685	-4.09;-4.09	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	M	0.88450	2.955	0.58432	D	0.999999	P;P	0.51449	0.945;0.945	P;P	0.57204	0.815;0.815	D	0.98294	1.0515	10	0.54805	T	0.06	.	16.849	0.85988	0.0:1.0:0.0:0.0	.	176;175	E7EPK9;P27658	.;CO8A1_HUMAN	L	175	ENSP00000261037:P175L;ENSP00000273342:P175L	ENSP00000261037:P175L	P	+	2	0	COL8A1	100995959	0.976000	0.34144	0.960000	0.40013	0.992000	0.81027	2.529000	0.45632	2.583000	0.87209	0.655000	0.94253	CCT		0.552	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		T	99513269	C	T	99513269	3	4	481	1	0	0	0	0	1	0	0	0	3707	681	24	2	530	2	COL8A1	3	99513269	Missense_Mutation	SNP	C	TCGA-BQ-7058-01A-11D-1961-08	46928660	99513269	98509161	13	25991											
PDIA5	10954	hgsc.bcm.edu	37	3	122821610	122821610	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr3:122821610T>A	ENST00000316218.7	+	5	449	c.354T>A	c.(352-354)ttT>ttA	p.F118L		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	118					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		ATGGTGCATTTCATACTGAAT	0.393																																																0													138	121	127					3																	122821610		2203	4300	6503	SO:0001583	missense	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.354T>A	chr3.hg19:g.122821610T>A	ENSP00000323313:p.Phe118Leu		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	hg19	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.148995	0.78001	.	.	ENSG00000065485	ENST00000316218;ENST00000484644	T	0.20598	2.06	4.97	4.97	0.65823	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	M	0.76574	2.34	0.53688	D	0.999974	D	0.76494	0.999	D	0.75484	0.986	T	0.30621	-0.9972	10	0.14656	T	0.56	.	12.261	0.54651	0.0:0.0:0.0:1.0	.	118	Q14554	PDIA5_HUMAN	L	118;22	ENSP00000323313:F118L	ENSP00000323313:F118L	F	+	3	2	PDIA5	124304300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.656000	0.46716	2.080000	0.62538	0.460000	0.39030	TTT		0.393	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		A	122821610	T	A	122821610	3	1	481	1	0	0	0	0	1	0	0	0	11673	1780	62	5	372	5	PDIA5	3	122821610	Missense_Mutation	SNP	T	TCGA-BQ-7058-01A-11D-1961-08	23308341	122821610	75200820	14	25992											
AFM	173	hgsc.bcm.edu	37	4	74364944	74364944	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr4:74364944T>C	ENST00000226355.3	+	11	1496	c.1403T>C	c.(1402-1404)tTt>tCt	p.F468S		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	468	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGTGAAGAGTTTGCCTGTGTT	0.403																																																0													184	158	167					4																	74364944		2203	4300	6503	SO:0001583	missense	173			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1403T>C	chr4.hg19:g.74364944T>C	ENSP00000226355:p.Phe468Ser		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	hg19	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595211	0.28445	.	.	ENSG00000079557	ENST00000226355	T	0.57107	0.42	5.55	4.38	0.52667	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.351548	0.26931	N	0.021779	T	0.55401	0.1918	L	0.41356	1.27	0.29327	N	0.866933	D	0.69078	0.997	D	0.65773	0.938	T	0.49000	-0.8984	10	0.21014	T	0.42	.	7.4141	0.27034	0.0:0.0943:0.0:0.9057	.	468	P43652	AFAM_HUMAN	S	468	ENSP00000226355:F468S	ENSP00000226355:F468S	F	+	2	0	AFM	74583808	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	2.017000	0.40981	2.111000	0.64477	0.533000	0.62120	TTT		0.403	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			C	74364944	T	C	74364944	3	2	481	1	0	0	0	0	1	0	0	0	361	1841	64	3	1445	3	AFM	4	74364944	Missense_Mutation	SNP	T	TCGA-BQ-7058-01A-11D-1961-08		74364944	116789332	15	25993											
LEF1	51176	hgsc.bcm.edu	37	4	109084775	109084775	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr4:109084775A>C	ENST00000265165.1	-	3	1017	c.363T>G	c.(361-363)aaT>aaG	p.N121K	LEF1_ENST00000510624.1_Missense_Mutation_p.N53K|LEF1_ENST00000438313.2_Missense_Mutation_p.N121K|LEF1_ENST00000379951.2_Missense_Mutation_p.N121K|LEF1_ENST00000512172.1_Missense_Mutation_p.N53K	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	121	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		ATGGGTCGTTATTCATATTTG	0.428																																																0													196	173	181					4																	109084775		2203	4300	6503	SO:0001583	missense	51176				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.363T>G	chr4.hg19:g.109084775A>C	ENSP00000265165:p.Asn121Lys		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	hg19	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	A	9.451	1.090605	0.20471	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99113	-5.42;-5.42;-5.42;-5.44	5.74	-3.28	0.05033	CTNNB1 binding, N-teminal (1);	0.187580	0.53938	D	0.000050	D	0.96728	0.8932	L	0.47716	1.5	0.32383	N	0.554276	P;P;P;P;B	0.42078	0.77;0.643;0.728;0.732;0.322	B;B;B;B;B	0.40901	0.184;0.132;0.156;0.343;0.216	D	0.94059	0.7325	10	0.28530	T	0.3	-19.1486	13.7994	0.63190	0.4778:0.0:0.5222:0.0	.	53;6;121;121;121	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	K	121;121;121;53;53;53	ENSP00000265165:N121K;ENSP00000369284:N121K;ENSP00000406176:N121K;ENSP00000422840:N53K	ENSP00000265165:N121K	N	-	3	2	LEF1	109304224	0.997000	0.39634	0.018000	0.16275	0.994000	0.84299	0.624000	0.24462	-0.783000	0.04534	0.460000	0.39030	AAT		0.428	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			C	109084775	A	C	109084775	3	2	481	1	0	0	0	0	1	0	0	0	8716	446	16	5	956	5	LEF1	4	109084775	Missense_Mutation	SNP	A	TCGA-BQ-7058-01A-11D-1961-08	34719831	109084775	82069501	16	25994											
LRBA	987	hgsc.bcm.edu	37	4	151827549	151827549	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr4:151827549delA	ENST00000357115.3	-	12	1745	c.1502delT	c.(1501-1503)ttgfs	p.L502fs	LRBA_ENST00000510413.1_Frame_Shift_Del_p.L502fs|LRBA_ENST00000507224.1_Frame_Shift_Del_p.L502fs|LRBA_ENST00000535741.1_Frame_Shift_Del_p.L502fs	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	502						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAAGGCCAGCAAGGTTGAACT	0.333																																																0													85	89	88					4																	151827549		2203	4300	6503	SO:0001589	frameshift_variant	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1502delT	chr4.hg19:g.151827549delA	ENSP00000349629:p.Leu502fs		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Frame_Shift_Del	DEL	ENST00000357115.3	hg19	CCDS3773.1																																																																																				0.333	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			-	151827549	A	-	151827549	7	5	481	1	0	1	0	1	0	0	0	0	8933	131	5	0	7277	0	LRBA	4	151827549	Frame_Shift_Del	DEL	A	TCGA-BQ-7058-01A-11D-1961-08	42742774	151827549	39326727	17	25995											
FAM105A	54491	hgsc.bcm.edu	37	5	14609077	14609077	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr5:14609077T>C	ENST00000274217.3	+	7	968	c.848T>C	c.(847-849)tTc>tCc	p.F283S		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	283	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CCTTTGAGCTTCATGATGAAT	0.433																																																0													149	153	152					5																	14609077		2203	4300	6503	SO:0001583	missense	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.848T>C	chr5.hg19:g.14609077T>C	ENSP00000274217:p.Phe283Ser		Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	hg19	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756651	0.69648	.	.	ENSG00000145569	ENST00000274217	T	0.16743	2.32	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.37625	0.1010	M	0.72894	2.215	0.41254	D	0.986734	D	0.76494	0.999	D	0.68943	0.961	T	0.23691	-1.0181	10	0.87932	D	0	-22.3388	10.4145	0.44314	0.1462:0.0:0.0:0.8538	.	283	Q9NUU6	F105A_HUMAN	S	283	ENSP00000274217:F283S	ENSP00000274217:F283S	F	+	2	0	FAM105A	14662077	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.702000	0.61817	1.819000	0.53055	0.477000	0.44152	TTC		0.433	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		C	14609077	T	C	14609077	3	2	481	1	0	0	0	0	1	0	0	0	5389	1783	62	3	874	3	FAM105A	5	14609077	Missense_Mutation	SNP	T	TCGA-BQ-7058-01A-11D-1961-08		14609077	166306183	18	25996											
TXNDC5	81567	hgsc.bcm.edu	37	6	7889004	7889004	+	Silent	SNP	A	A	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr6:7889004A>C	ENST00000379757.4	-	7	934	c.897T>G	c.(895-897)acT>acG	p.T299T	TXNDC5_ENST00000473453.1_Silent_p.T191T|TXNDC5_ENST00000539054.1_Silent_p.T227T|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	299					apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CCGTCGCTCCAGTCTCTGTGC	0.642																																					Ovarian(119;1430 1625 3928 26125 34589)											0													136	131	132					6																	7889004		2203	4300	6503	SO:0001819	synonymous_variant	81567			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.897T>G	chr6.hg19:g.7889004A>C			B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	ENST00000379757.4	hg19	CCDS4505.1																																																																																				0.642	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		C	7889004	A	C	7889004	2	2	481	1	0	0	0	0	0	0	0	1	16804	175	7	5		5	TXNDC5	6	7889004	Silent	SNP	A	TCGA-BQ-7058-01A-11D-1961-08		7889004	163226063	19	25997											
UNC5D	137970	hgsc.bcm.edu	37	8	35541184	35541184	+	Silent	SNP	C	C	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr8:35541184C>T	ENST00000404895.2	+	5	1018	c.690C>T	c.(688-690)acC>acT	p.T230T	UNC5D_ENST00000287272.2_Silent_p.T230T|UNC5D_ENST00000420357.1_Silent_p.T230T|UNC5D_ENST00000416672.1_Silent_p.T230T|UNC5D_ENST00000453357.2_Silent_p.T225T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	230	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T225T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAAATTACACCTGCATGGCAG	0.537																																																1	Substitution - coding silent(1)	lung(1)											86	72	77					8																	35541184		2203	4300	6503	SO:0001819	synonymous_variant	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.690C>T	chr8.hg19:g.35541184C>T			Q8WYP7	Silent	SNP	ENST00000404895.2	hg19	CCDS6093.2																																																																																				0.537	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			T	35541184	C	T	35541184	2	4	481	1	0	0	0	0	0	0	0	1	17000	668	24	2		2	UNC5D	8	35541184	Silent	SNP	C	TCGA-BQ-7058-01A-11D-1961-08		35541184	110822838	20	25998											
CDH17	1015	hgsc.bcm.edu	37	8	95158391	95158391	+	Frame_Shift_Del	DEL	C	C	-	rs537643053	byFrequency	TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr8:95158391delC	ENST00000027335.3	-	15	2056	c.1932delG	c.(1930-1932)gggfs	p.G644fs	CDH17_ENST00000441892.2_Frame_Shift_Del_p.G430fs|CDH17_ENST00000450165.2_Frame_Shift_Del_p.G644fs	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCAAGGAAGACCCCCCTAAGG	0.438																																																0													80	74	76					8																	95158391		2203	4300	6503	SO:0001589	frameshift_variant	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1932delG	chr8.hg19:g.95158391delC	ENSP00000027335:p.Gly644fs		Q15336|Q2M2E0	Frame_Shift_Del	DEL	ENST00000027335.3	hg19	CCDS6260.1																																																																																				0.438	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		-	95158391	C	-	95158391	7	5	481	1	0	1	0	1	0	0	0	0	3104	494	18	0	582	0	CDH17	8	95158391	Frame_Shift_Del	DEL	C	TCGA-BQ-7058-01A-11D-1961-08	59617207	95158391	51205631	21	25999											
NOV	4856	hgsc.bcm.edu	37	8	120429171	120429171	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr8:120429171G>C	ENST00000259526.3	+	2	499	c.272G>C	c.(271-273)cGc>cCc	p.R91P	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			TACTGTGATCGCAGCGCGGAC	0.612											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													48	44	46					8																	120429171		2203	4300	6503	SO:0001583	missense	4856			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.272G>C	chr8.hg19:g.120429171G>C	ENSP00000259526:p.Arg91Pro	1503		Missense_Mutation	SNP	ENST00000259526.3	hg19	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796255	0.70567	.	.	ENSG00000136999	ENST00000259526	T	0.61274	0.12	4.93	4.05	0.47172	Insulin-like growth factor-binding protein, IGFBP (2);	0.205916	0.45126	D	0.000394	T	0.50497	0.1619	N	0.11313	0.125	0.37745	D	0.925773	D	0.71674	0.998	P	0.61132	0.884	T	0.56932	-0.7897	10	0.45353	T	0.12	-42.0353	8.4948	0.33121	0.0773:0.0:0.7703:0.1525	.	91	P48745	NOV_HUMAN	P	91	ENSP00000259526:R91P	ENSP00000259526:R91P	R	+	2	0	NOV	120498352	0.151000	0.22747	1.000000	0.80357	0.990000	0.78478	0.194000	0.17135	1.436000	0.47453	0.561000	0.74099	CGC		0.612	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		C	120429171	G	C	120429171	3	2	481	1	0	0	0	0	1	0	0	0	10555	1087	38	4	278	4	NOV	8	120429171	Missense_Mutation	SNP	G	TCGA-BQ-7058-01A-11D-1961-08	25270780	120429171	25934851	22	26000											
RASEF	158158	hgsc.bcm.edu	37	9	85597649	85597649	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr9:85597649A>C	ENST00000376447.3	-	17	2426	c.2166T>G	c.(2164-2166)aaT>aaG	p.N722K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	722					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCCGGTTAGATTGGTAATGG	0.433																																																0													391	359	370					9																	85597649		2203	4300	6503	SO:0001583	missense	158158			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2166T>G	chr9.hg19:g.85597649A>C	ENSP00000365630:p.Asn722Lys		A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	hg19	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	A	8.015	0.758440	0.15846	.	.	ENSG00000165105	ENST00000376447	T	0.60797	0.16	5.05	-4.07	0.03975	.	0.378995	0.27640	N	0.018471	T	0.26774	0.0655	N	0.12746	0.255	0.20563	N	0.999889	B	0.09022	0.002	B	0.04013	0.001	T	0.36138	-0.9760	10	0.05721	T	0.95	.	9.4599	0.38778	0.2492:0.0:0.6328:0.118	.	722	Q8IZ41	RASEF_HUMAN	K	722	ENSP00000365630:N722K	ENSP00000365630:N722K	N	-	3	2	RASEF	84787469	0.953000	0.32496	0.062000	0.19696	0.834000	0.47266	0.266000	0.18534	-0.671000	0.05274	-0.353000	0.07706	AAT		0.433	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		C	85597649	A	C	85597649	3	2	481	1	0	0	0	0	1	0	0	0	13074	330	12	5	60	5	RASEF	9	85597649	Missense_Mutation	SNP	A	TCGA-BQ-7058-01A-11D-1961-08		85597649	55615782	23	26001											
LOC645961	645961	hgsc.bcm.edu	37	9	90747533	90747533	+	IGR	SNP	G	G	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr9:90747533G>T								U6 (134283 upstream) : U3 (241650 downstream)																							GGACCGGGAGGCTCCATCAGG	0.597																																																0													86	104	99					9																	90747533		692	1591	2283	SO:0001628	intergenic_variant	645961																															chr9.hg19:g.90747533G>T				Missense_Mutation	SNP		hg19																																																																																				0	0.597									T	90747533	G	T	90747533	1	4	481	0	1	0	0	0	0	0	0	0	8885	1203	42	4		4	LOC645961	9	90747533	IGR	SNP	G	TCGA-BQ-7058-01A-11D-1961-08	5149884	90747533	50465898	24	26002											
PAPPA	5069	hgsc.bcm.edu	37	9	118969850	118969850	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr9:118969850C>T	ENST00000328252.3	+	3	1963	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	532	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCAACTTGGCCATGGGACAA	0.433																																																0													72	68	69					9																	118969850		2203	4300	6503	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1594C>T	chr9.hg19:g.118969850C>T	ENSP00000330658:p.Pro532Ser		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	hg19	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	35	5.509017	0.96386	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.05258	3.47	6.07	6.07	0.98685	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61826	-0.6983	10	0.87932	D	0	-9.2416	20.6439	0.99570	0.0:1.0:0.0:0.0	.	74;532	E7EMD3;Q13219	.;PAPP1_HUMAN	S	532;74	ENSP00000330658:P532S	ENSP00000330658:P532S	P	+	1	0	PAPPA	118009671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.884000	0.98904	0.655000	0.94253	CCA		0.433	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		T	118969850	C	T	118969850	3	4	481	1	0	0	0	0	1	0	0	0	11434	739	26	2	1604	2	PAPPA	9	118969850	Missense_Mutation	SNP	C	TCGA-BQ-7058-01A-11D-1961-08	28222317	118969850	22243581	25	26003											
ASTN2	23245	hgsc.bcm.edu	37	9	119495750	119495750	+	Missense_Mutation	SNP	T	T	A	rs150944935	byFrequency	TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr9:119495750T>A	ENST00000313400.4	-	14	2549	c.2449A>T	c.(2449-2451)Atc>Ttc	p.I817F	ASTN2_ENST00000361209.2_Missense_Mutation_p.I766F|ASTN2_ENST00000373996.3_Missense_Mutation_p.I813F|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	817					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGCAGCGGGATCACCAACAGC	0.602																																																0													73	78	76					9																	119495750		2203	4300	6503	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2449A>T	chr9.hg19:g.119495750T>A	ENSP00000314038:p.Ile817Phe		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	hg19		.	.	.	.	.	.	.	.	.	.	T	19.46	3.831645	0.71258	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.15372	2.75;2.74;2.43;2.77	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	N	0.14661	0.345	0.80722	D	1	D;D;D	0.71674	0.991;0.998;0.978	P;P;P	0.61874	0.791;0.895;0.877	T	0.08351	-1.0726	9	.	.	.	-20.5951	14.7786	0.69749	0.0:0.0:0.0:1.0	.	766;817;813	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	F	817;813;540;766	ENSP00000314038:I817F;ENSP00000363108:I813F;ENSP00000363098:I540F;ENSP00000354504:I766F	.	I	-	1	0	ASTN2	118535571	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.962000	0.87912	1.890000	0.54733	0.459000	0.35465	ATC		0.602	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		A	119495750	T	A	119495750	3	1	481	1	0	0	0	0	1	0	0	0	1065	1435	50	5	1842	5	ASTN2	9	119495750	Missense_Mutation	SNP	T	TCGA-BQ-7058-01A-11D-1961-08	525900	119495750	21717681	26	26004											
ECD	11319	hgsc.bcm.edu	37	10	74906091	74906091	+	Missense_Mutation	SNP	C	C	G	rs147908494	byFrequency	TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr10:74906091C>G	ENST00000372979.4	-	9	1276	c.1070G>C	c.(1069-1071)cGg>cCg	p.R357P	ECD_ENST00000454759.2_Missense_Mutation_p.R314P|ECD_ENST00000430082.2_Missense_Mutation_p.R357P	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	357					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TAGCCTTTCCCGGTACTGAGC	0.388																																																0													70	60	64					10																	74906091		2203	4300	6503	SO:0001583	missense	11319			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1070G>C	chr10.hg19:g.74906091C>G	ENSP00000362070:p.Arg357Pro		C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	hg19	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	c	16.22	3.061911	0.55432	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	T;T;T	0.18657	2.2;2.2;2.2	5.86	3.46	0.39613	.	0.479204	0.25307	N	0.031608	T	0.22704	0.0548	L	0.46157	1.445	0.25782	N	0.984718	P;P;P	0.48694	0.583;0.719;0.914	P;P;P	0.52793	0.511;0.518;0.709	T	0.11397	-1.0589	10	0.36615	T	0.2	-20.0372	1.3395	0.02151	0.2109:0.0988:0.1488:0.5415	.	314;357;357	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	P	357;357;314	ENSP00000362070:R357P;ENSP00000401566:R357P;ENSP00000395786:R314P	ENSP00000362070:R357P	R	-	2	0	ECD	74576097	0.515000	0.26210	1.000000	0.80357	0.871000	0.50021	0.390000	0.20768	1.054000	0.40438	-0.310000	0.09108	CGG		0.388	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		G	74906091	C	G	74906091	3	3	481	1	0	0	0	0	1	0	0	0	4890	652	23	4	991	4	ECD	10	74906091	Missense_Mutation	SNP	C	TCGA-BQ-7058-01A-11D-1961-08		74906091	60628656	27	26005											
ADK	132	hgsc.bcm.edu	37	10	76468112	76468112	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr10:76468112T>C	ENST00000286621.2	+	11	1048	c.998T>C	c.(997-999)cTg>cCg	p.L333P	ADK_ENST00000539909.1_Missense_Mutation_p.L276P|ADK_ENST00000541550.1_Missense_Mutation_p.L298P|ADK_ENST00000372734.3_Missense_Mutation_p.L316P	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	333					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	GACAAGCCTCTGACTGAATGT	0.453																																																0													148	145	146					10																	76468112		2203	4300	6503	SO:0001583	missense	132			U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"adenosine 5'-phosphotransferase"	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.998T>C	chr10.hg19:g.76468112T>C	ENSP00000286621:p.Leu333Pro		B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Missense_Mutation	SNP	ENST00000286621.2	hg19	CCDS7343.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992018	0.74703	.	.	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734;ENST00000541550	D;D;D;D	0.90620	-2.7;-1.54;-1.54;-1.54	5.48	5.48	0.80851	Carbohydrate/purine kinase (1);	0.220948	0.39210	N	0.001422	D	0.94656	0.8277	M	0.79011	2.435	0.80722	D	1	D;B;D;B	0.69078	0.997;0.226;0.997;0.042	D;B;D;B	0.66847	0.947;0.275;0.947;0.173	D	0.94816	0.7983	10	0.54805	T	0.06	-6.7191	14.538	0.67973	0.0:0.0:0.0:1.0	.	298;276;316;333	B7Z800;B7Z783;Q5JQ10;P55263	.;.;.;ADK_HUMAN	P	276;333;316;298	ENSP00000443965:L276P;ENSP00000286621:L333P;ENSP00000361819:L316P;ENSP00000438321:L298P	ENSP00000286621:L333P	L	+	2	0	ADK	76138118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.195000	0.77798	2.078000	0.62432	0.533000	0.62120	CTG		0.453	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1	NM_001123, NM_006721		C	76468112	T	C	76468112	3	2	481	1	0	0	0	0	1	0	0	0	320	1580	55	3	1058	3	ADK	10	76468112	Missense_Mutation	SNP	T	TCGA-BQ-7058-01A-11D-1961-08	1562021	76468112	59066635	28	26006											
OR1S1	219959	hgsc.bcm.edu	37	11	57982376	57982376	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:57982376G>A	ENST00000309433.6	+	1	160	c.160G>A	c.(160-162)Ggg>Agg	p.G54R		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	54						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)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CACTGTGATTGGGAACGGGCT	0.448																																																0													323	297	306					11																	57982376		2201	4296	6497	SO:0001583	missense	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.160G>A	chr11.hg19:g.57982376G>A	ENSP00000311688:p.Gly54Arg		Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	hg19	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.576223	0.45902	.	.	ENSG00000172774	ENST00000309433	T	0.15256	2.44	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000137	T	0.49558	0.1564	H	0.95328	3.655	0.09310	N	0.999999	D	0.89917	1.0	D	0.70935	0.971	T	0.50406	-0.8832	10	0.87932	D	0	.	10.0621	0.42282	0.1064:0.0:0.8936:0.0	.	54	Q8NH92	OR1S1_HUMAN	R	54	ENSP00000311688:G54R	ENSP00000311688:G54R	G	+	1	0	OR1S1	57738952	0.784000	0.28713	0.803000	0.32268	0.673000	0.39480	2.153000	0.42282	1.770000	0.52166	0.479000	0.44913	GGG		0.448	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		A	57982376	G	A	57982376	3	1	481	1	0	0	0	0	1	0	0	0	10974	1348	47	2	162	2	OR1S1	11	57982376	Missense_Mutation	SNP	G	TCGA-BQ-7058-01A-11D-1961-08		57982376	77024140	29	26007											
TRMT112	51504	hgsc.bcm.edu	37	11	64084953	64084953	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:64084953delC	ENST00000544844.1	-	1	603	c.46delG	c.(46-48)gtgfs	p.V16fs	PRDX5_ENST00000347941.4_5'Flank|TRMT112_ENST00000308774.2_Frame_Shift_Del_p.V16fs|TRMT112_ENST00000535750.1_5'UTR|PRDX5_ENST00000265462.4_5'Flank|TRMT112_ENST00000535126.1_Frame_Shift_Del_p.G4fs|PRDX5_ENST00000352435.4_5'Flank|TRMT112_ENST00000539854.1_Frame_Shift_Del_p.V16fs			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	16	TRM112.				peptidyl-glutamine methylation (GO:0018364)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protein methyltransferase activity (GO:0008276)			large_intestine(1)|upper_aerodigestive_tract(1)	2						CGGGACCCCACCCCCCGCACA	0.657																																																0													22	22	22					11																	64084953		2200	4294	6494	SO:0001589	frameshift_variant	51504			AF110774	CCDS8068.1, CCDS66113.1, CCDS73312.1	11q13.1	2013-07-23			ENSG00000173113	ENSG00000173113			26940	protein-coding gene	gene with protein product						11042152	Standard	NM_001286082		Approved	HSPC152, HSPC170, TRM112, TRMT11-2	uc001nzt.3	Q9UI30	OTTHUMG00000167848	ENST00000544844.1:c.46delG	chr11.hg19:g.64084953delC	ENSP00000438349:p.Val16fs		B2R539|J3KNG5|Q3MHC7|Q8N2Z4	Frame_Shift_Del	DEL	ENST00000544844.1	hg19	CCDS8068.1																																																																																				0.657	TRMT112-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396598.2	NM_016404		-	64084953	C	-	64084953	7	5	481	1	0	1	0	1	0	0	0	0	16568	507	18	0	347	0	TRMT112	11	64084953	Frame_Shift_Del	DEL	C	TCGA-BQ-7058-01A-11D-1961-08	6102577	64084953	70921563	30	26008											
DPF2	5977	hgsc.bcm.edu	37	11	65113439	65113439	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:65113439T>C	ENST00000528416.1	+	8	947	c.814T>C	c.(814-816)Tac>Cac	p.Y272H	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.Y286H	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	272					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GCCCAACAACTACTGTGACTT	0.537																																																0													123	125	124					11																	65113439		2201	4297	6498	SO:0001583	missense	5977			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.814T>C	chr11.hg19:g.65113439T>C	ENSP00000436901:p.Tyr272His		A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	hg19	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.025345	0.93518	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.91011	-2.75;-2.77	5.92	5.92	0.95590	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.34338	N	0.004057	D	0.95739	0.8614	M	0.87900	2.915	0.54753	D	0.999988	D	0.63046	0.992	D	0.87578	0.998	D	0.96274	0.9201	10	0.87932	D	0	-23.8316	14.3154	0.66446	0.0:0.0:0.0:1.0	.	272	Q92785	REQU_HUMAN	H	272;286	ENSP00000436901:Y272H;ENSP00000252268:Y286H	ENSP00000252268:Y286H	Y	+	1	0	DPF2	64870015	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.946000	0.87746	2.270000	0.75569	0.459000	0.35465	TAC		0.537	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		C	65113439	T	C	65113439	3	2	481	1	0	0	0	0	1	0	0	0	4719	1522	53	3	844	3	DPF2	11	65113439	Missense_Mutation	SNP	T	TCGA-BQ-7058-01A-11D-1961-08	1028486	65113439	69893077	31	26009											
SPTBN2	6712	hgsc.bcm.edu	37	11	66488565	66488565	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:66488565C>G	ENST00000533211.1	-	3	478	c.147G>C	c.(145-147)aaG>aaC	p.K49N	SPTBN2_ENST00000529997.1_Missense_Mutation_p.K49N|SPTBN2_ENST00000309996.2_Missense_Mutation_p.K49N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	49	Actin-binding.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGCCAGAGCCTTAATGCGAG	0.572																																																0													76	65	68					11																	66488565		2200	4295	6495	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.147G>C	chr11.hg19:g.66488565C>G	ENSP00000432568:p.Lys49Asn		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	hg19	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576172	0.65878	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262;ENST00000527010	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	4.58	3.67	0.42095	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	M	0.92169	3.28	0.52099	D	0.999946	D	0.67145	0.996	P	0.61477	0.889	T	0.79100	-0.1942	10	0.87932	D	0	.	8.4196	0.32692	0.0:0.8157:0.0:0.1843	.	49	O15020	SPTN2_HUMAN	N	49	ENSP00000432568:K49N;ENSP00000311489:K49N;ENSP00000433593:K49N;ENSP00000433631:K49N	ENSP00000311489:K49N	K	-	3	2	SPTBN2	66245141	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	0.667000	0.25112	1.062000	0.40625	0.561000	0.74099	AAG		0.572	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		G	66488565	C	G	66488565	3	3	481	1	0	0	0	0	1	0	0	0	15125	680	24	4	7169	4	SPTBN2	11	66488565	Missense_Mutation	SNP	C	TCGA-BQ-7058-01A-11D-1961-08	1375126	66488565	68517951	32	26010											
PCF11	51585	hgsc.bcm.edu	37	11	82877707	82877707	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:82877707A>C	ENST00000298281.4	+	5	2220	c.1768A>C	c.(1768-1770)Agt>Cgt	p.S590R		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	590					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAACTGGCAAAGTTCCAAGTC	0.373																																																0													69	70	70					11																	82877707		1801	3982	5783	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1768A>C	chr11.hg19:g.82877707A>C	ENSP00000298281:p.Ser590Arg		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199720	0.38905	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.46063	1.89;0.89;0.88	6.07	4.96	0.65561	.	0.165679	0.43747	D	0.000537	T	0.27063	0.0663	N	0.19112	0.55	0.28203	N	0.927278	P;B	0.50528	0.936;0.244	P;B	0.45099	0.469;0.143	T	0.13072	-1.0523	9	.	.	.	.	4.9308	0.13916	0.7534:0.0:0.2466:0.0	.	590;590	E9PQ01;O94913	.;PCF11_HUMAN	R	590	ENSP00000298281:S590R;ENSP00000434540:S590R;ENSP00000431567:S590R	.	S	+	1	0	PCF11	82555355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.144000	0.64832	2.326000	0.78906	0.533000	0.62120	AGT		0.373	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		C	82877707	A	C	82877707	3	2	481	1	0	0	0	0	1	0	0	0	11575	72	3	5	1786	5	PCF11	11	82877707	Missense_Mutation	SNP	A	TCGA-BQ-7058-01A-11D-1961-08	16389142	82877707	52128809	33	26011											
B4GALNT3	283358	hgsc.bcm.edu	37	12	662534	662534	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr12:662534C>A	ENST00000266383.5	+	14	1458	c.1445C>A	c.(1444-1446)cCc>cAc	p.P482H		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	482					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTGGCTCAGCCCCGGGAGGGC	0.627																																																0													55	63	60					12																	662534		2203	4300	6503	SO:0001583	missense	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1445C>A	chr12.hg19:g.662534C>A	ENSP00000266383:p.Pro482His		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	hg19	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387397	0.42308	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.32988	3.47;1.43	5.75	1.75	0.24633	.	0.694092	0.14730	N	0.301809	T	0.20861	0.0502	L	0.36672	1.1	0.09310	N	1	P;P	0.41265	0.744;0.61	B;B	0.39027	0.288;0.167	T	0.08249	-1.0731	10	0.39692	T	0.17	-7.1623	5.6204	0.17453	0.0:0.6186:0.1433:0.238	.	385;482	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	H	482;385	ENSP00000266383:P482H;ENSP00000322953:P385H	ENSP00000266383:P482H	P	+	2	0	B4GALNT3	532795	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	-0.111000	0.10807	0.790000	0.33803	0.650000	0.86243	CCC		0.627	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		A	662534	C	A	662534	3	1	481	1	0	0	0	0	1	0	0	0	1268	623	22	4	1499	4	B4GALNT3	12	662534	Missense_Mutation	SNP	C	TCGA-BQ-7058-01A-11D-1961-08		662534	133189361	34	26012											
TMTC3	160418	hgsc.bcm.edu	37	12	88548132	88548132	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr12:88548132A>G	ENST00000266712.6	+	4	696	c.476A>G	c.(475-477)tAt>tGt	p.Y159C		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	159					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTTTGTCATATACCAGATCA	0.318																																																0													82	80	81					12																	88548132		2203	4296	6499	SO:0001583	missense	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.476A>G	chr12.hg19:g.88548132A>G	ENSP00000266712:p.Tyr159Cys		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	hg19	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221546	0.79464	.	.	ENSG00000139324	ENST00000266712;ENST00000551088	T	0.71698	-0.59	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.86682	0.5991	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89279	0.3610	9	.	.	.	-14.1188	15.2357	0.73430	1.0:0.0:0.0:0.0	.	159	Q6ZXV5-2	.	C	159;86	ENSP00000266712:Y159C	.	Y	+	2	0	TMTC3	87072263	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	6.888000	0.75622	1.998000	0.58463	0.455000	0.32223	TAT		0.318	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		G	88548132	A	G	88548132	3	3	481	1	0	0	0	0	1	0	0	0	16267	449	16	3	486	3	TMTC3	12	88548132	Missense_Mutation	SNP	A	TCGA-BQ-7058-01A-11D-1961-08	87885598	88548132	45303763	35	26013											
NID2	22795	hgsc.bcm.edu	37	14	52474565	52474565	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr14:52474565delA	ENST00000216286.5	-	19	3842	c.3843delT	c.(3841-3843)tttfs	p.F1281fs	NID2_ENST00000541773.1_Frame_Shift_Del_p.F1180fs	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1281					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					agaaagggtcaaaggttaagc	0.403																																																0													126	116	120					14																	52474565		2203	4300	6503	SO:0001589	frameshift_variant	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3843delT	chr14.hg19:g.52474565delA	ENSP00000216286:p.Phe1281fs		A8K6I7|B4DU19|O43710	Frame_Shift_Del	DEL	ENST00000216286.5	hg19	CCDS9706.1																																																																																				0.403	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			-	52474565	A	-	52474565	7	5	481	1	0	1	0	1	0	0	0	0	10417	127	5	0	300	0	NID2	14	52474565	Frame_Shift_Del	DEL	A	TCGA-BQ-7058-01A-11D-1961-08		52474565	54874975	36	26014											
PCNX	22990	hgsc.bcm.edu	37	14	71413816	71413816	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr14:71413816G>T	ENST00000304743.2	+	2	784	c.338G>T	c.(337-339)aGg>aTg	p.R113M	PCNX_ENST00000439984.3_Missense_Mutation_p.R113M|PCNX_ENST00000238570.5_Missense_Mutation_p.R113M	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	113						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTTCAACCAGGAGAAAAGAC	0.398																																																0													108	94	99					14																	71413816		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.338G>T	chr14.hg19:g.71413816G>T	ENSP00000304192:p.Arg113Met		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	hg19	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149085	0.57151	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.42513	0.97;0.97;0.97	5.87	5.87	0.94306	.	0.248009	0.40144	N	0.001174	T	0.54013	0.1832	L	0.48642	1.525	0.47737	D	0.999505	D;D;D	0.71674	0.99;0.99;0.998	P;P;P	0.61592	0.707;0.707;0.891	T	0.52124	-0.8617	10	0.56958	D	0.05	.	13.8269	0.63357	0.0783:0.0:0.9217:0.0	.	113;113;113	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	M	113	ENSP00000304192:R113M;ENSP00000238570:R113M;ENSP00000396617:R113M	ENSP00000238570:R113M	R	+	2	0	PCNX	70483569	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.762000	0.68809	2.779000	0.95612	0.655000	0.94253	AGG		0.398	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		T	71413816	G	T	71413816	3	4	481	1	0	0	0	0	1	0	0	0	11593	1000	35	4	344	4	PCNX	14	71413816	Missense_Mutation	SNP	G	TCGA-BQ-7058-01A-11D-1961-08	18939251	71413816	35935724	37	26015											
HERC1	8925	hgsc.bcm.edu	37	15	64005696	64005696	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr15:64005696G>C	ENST00000443617.2	-	23	4406	c.4319C>G	c.(4318-4320)gCt>gGt	p.A1440G	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1440					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTTGCATGCAGCAGTGTACAC	0.537																																																0													104	101	102					15																	64005696		2101	4230	6331	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4319C>G	chr15.hg19:g.64005696G>C	ENSP00000390158:p.Ala1440Gly		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.853473	0.51270	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.34859	1.34	5.53	5.53	0.82687	.	0.069961	0.56097	D	0.000037	T	0.22513	0.0543	N	0.08118	0	0.44417	D	0.997336	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.003	T	0.04678	-1.0934	10	0.49607	T	0.09	.	14.9975	0.71443	0.0:0.1421:0.8579:0.0	.	424;1440	B4DKS2;Q15751	.;HERC1_HUMAN	G	1440;424	ENSP00000390158:A1440G	ENSP00000389613:A424G	A	-	2	0	HERC1	61792749	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.377000	0.79668	2.599000	0.87857	0.655000	0.94253	GCT		0.537	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		C	64005696	G	C	64005696	3	2	481	1	0	0	0	0	1	0	0	0	7059	971	34	4	10490	4	HERC1	15	64005696	Missense_Mutation	SNP	G	TCGA-BQ-7058-01A-11D-1961-08		64005696	38525696	38	26016											
CILP	8483	hgsc.bcm.edu	37	15	65496681	65496681	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr15:65496681A>T	ENST00000261883.4	-	6	1010	c.844T>A	c.(844-846)Ttt>Att	p.F282I		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	282					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ATGGGGGCAAACTTGACCTTT	0.527																																																0													119	105	110					15																	65496681		2201	4299	6500	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.844T>A	chr15.hg19:g.65496681A>T	ENSP00000261883:p.Phe282Ile		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	hg19	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541043	0.65085	.	.	ENSG00000138615	ENST00000261883	T	0.38722	1.12	5.63	5.63	0.86233	Carboxypeptidase-like, regulatory domain (1);	0.095383	0.64402	D	0.000001	T	0.45337	0.1337	M	0.69358	2.11	0.36495	D	0.868693	B	0.29341	0.242	B	0.29942	0.109	T	0.56414	-0.7983	10	0.72032	D	0.01	-4.1505	15.024	0.71653	1.0:0.0:0.0:0.0	.	282	O75339	CILP1_HUMAN	I	282	ENSP00000261883:F282I	ENSP00000261883:F282I	F	-	1	0	CILP	63283734	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.410000	0.73294	2.148000	0.66965	0.460000	0.39030	TTT		0.527	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		T	65496681	A	T	65496681	3	4	481	1	0	0	0	0	1	0	0	0	3431	43	2	5	2726	5	CILP	15	65496681	Missense_Mutation	SNP	A	TCGA-BQ-7058-01A-11D-1961-08	1490985	65496681	37034711	39	26017											
SRL	6345	hgsc.bcm.edu	37	16	4245669	4245669	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr16:4245669A>C	ENST00000399609.3	-	5	507	c.495T>G	c.(493-495)ttT>ttG	p.F165L	SRL_ENST00000537996.1_Missense_Mutation_p.F123L	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	624	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AATTCTGGCCAAACTTCTCAA	0.527																																																0													92	93	93					16																	4245669		1908	4134	6042	SO:0001583	missense	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.495T>G	chr16.hg19:g.4245669A>C	ENSP00000382518:p.Phe165Leu			Missense_Mutation	SNP	ENST00000399609.3	hg19	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436347	0.83885	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.96041	-3.89;-3.89	5.1	4.01	0.46588	.	0.000000	0.85682	U	0.000000	D	0.95475	0.8530	M	0.75264	2.295	0.80722	D	1	P	0.51147	0.942	P	0.49953	0.627	D	0.94708	0.7889	10	0.87932	D	0	-10.1449	9.749	0.40464	0.8549:0.0:0.1451:0.0	.	165	Q86TD4-2	.	L	165;623;123	ENSP00000382518:F165L;ENSP00000440350:F123L	ENSP00000333285:F623L	F	-	3	2	SRL	4185670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.492000	0.45311	1.065000	0.40693	0.533000	0.62120	TTT		0.527	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		C	4245669	A	C	4245669	3	2	481	1	0	0	0	0	1	0	0	0	15155	127	5	5	934	5	SRL	16	4245669	Missense_Mutation	SNP	A	TCGA-BQ-7058-01A-11D-1961-08		4245669	86109084	40	26018											
NLK	51701	hgsc.bcm.edu	37	17	26490600	26490600	+	Silent	SNP	A	A	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr17:26490600A>G	ENST00000407008.3	+	5	1501	c.783A>G	c.(781-783)ttA>ttG	p.L261L		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGGCATTTTACATCGAGACA	0.318																																																0													85	83	83					17																	26490600		2203	4300	6503	SO:0001819	synonymous_variant	51701			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.783A>G	chr17.hg19:g.26490600A>G			B2RCX1|Q2PNI9|Q6P2A3	Silent	SNP	ENST00000407008.3	hg19	CCDS11224.2																																																																																				0.318	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		G	26490600	A	G	26490600	2	3	481	1	0	0	0	0	0	0	0	1	10468	388	14	3		3	NLK	17	26490600	Silent	SNP	A	TCGA-BQ-7058-01A-11D-1961-08		26490600	54704610	41	26019											
COX11	1353	hgsc.bcm.edu	37	17	53045784	53045784	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr17:53045784T>G	ENST00000299335.3	-	1	362	c.224A>C	c.(223-225)aAg>aCg	p.K75T	STXBP4_ENST00000299341.4_5'Flank|COX11_ENST00000571584.1_Missense_Mutation_p.K75T|STXBP4_ENST00000434978.2_5'Flank|STXBP4_ENST00000376352.2_5'Flank|STXBP4_ENST00000398391.2_5'Flank|STXBP4_ENST00000405898.1_5'Flank	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	75					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						GTTCGAGCTCTTAGGCCGCCG	0.677																																																0													36	39	38					17																	53045784		2193	4279	6472	SO:0001583	missense	1353			AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"Mitochondrial respiratory chain complex assembly factors"	2261	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit 11", "cytochrome c oxidase assembly protein COX11"	603648	"COX11 (yeast) homolog, cytochrome c oxidase assembly protein", "COX11 cytochrome c oxidase assembly homolog (yeast)"			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.224A>C	chr17.hg19:g.53045784T>G	ENSP00000299335:p.Lys75Thr		D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Missense_Mutation	SNP	ENST00000299335.3	hg19	CCDS11583.1	.	.	.	.	.	.	.	.	.	.	T	8.726	0.915585	0.17907	.	.	ENSG00000166260	ENST00000299335	T	0.46451	0.87	5.02	2.75	0.32379	.	0.295867	0.40728	N	0.001025	T	0.34890	0.0913	M	0.61703	1.905	0.29814	N	0.831394	B;B	0.18863	0.031;0.007	B;B	0.14023	0.01;0.003	T	0.27468	-1.0073	10	0.22706	T	0.39	-11.5209	7.4832	0.27417	0.0:0.2509:0.0:0.7491	.	75;75	B4DI26;Q9Y6N1	.;COX11_HUMAN	T	75	ENSP00000299335:K75T	ENSP00000299335:K75T	K	-	2	0	COX11	50400783	0.913000	0.31002	0.971000	0.41717	0.013000	0.08279	1.102000	0.31050	0.364000	0.24374	-0.250000	0.11733	AAG		0.677	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375		G	53045784	T	G	53045784	3	3	481	1	0	0	0	0	1	0	0	0	3765	1609	56	5	688	5	COX11	17	53045784	Missense_Mutation	SNP	T	TCGA-BQ-7058-01A-11D-1961-08	26555184	53045784	28149426	42	26020											
DDX5	1655	hgsc.bcm.edu	37	17	62500170	62500170	+	Silent	SNP	T	T	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr17:62500170T>C	ENST00000225792.5	-	4	773	c.372A>G	c.(370-372)ggA>ggG	p.G124G	MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Silent_p.G124G|CEP95_ENST00000581056.1_5'Flank|DDX5_ENST00000450599.2_Intron|CEP95_ENST00000553412.1_5'Flank|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000580026.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	124					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CAACTGGCCATCCCTGAGCTT	0.398			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													143	136	138					17																	62500170		2203	4300	6503	SO:0001819	synonymous_variant	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.372A>G	chr17.hg19:g.62500170T>C			B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Silent	SNP	ENST00000225792.5	hg19	CCDS11659.1																																																																																				0.398	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		C	62500170	T	C	62500170	2	2	481	1	0	0	0	0	0	0	0	1	4369	1422	50	3		3	DDX5	17	62500170	Silent	SNP	T	TCGA-BQ-7058-01A-11D-1961-08	9454386	62500170	18695040	43	26021											
SLC9A3R1	9368	hgsc.bcm.edu	37	17	72745286	72745286	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr17:72745286A>T	ENST00000262613.5	+	1	496	c.301A>T	c.(301-303)Aag>Tag	p.K101*	MIR3615_ENST00000585285.1_RNA|MIR3615_ENST00000581999.1_RNA	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	101					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						GCAGCTGCAGAAGCTCGGCGT	0.736																																																0													3	5	4					17																	72745286		1866	3862	5728	SO:0001587	stop_gained	9368			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.301A>T	chr17.hg19:g.72745286A>T	ENSP00000262613:p.Lys101*		B3KY21|O43552|Q86WQ5	Nonsense_Mutation	SNP	ENST00000262613.5	hg19	CCDS11705.1	.	.	.	.	.	.	.	.	.	.	A	39	7.293378	0.98192	.	.	ENSG00000109062	ENST00000262613;ENST00000413388	.	.	.	4.34	4.34	0.51931	.	0.194752	0.44097	D	0.000484	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.2354	7.5228	0.27637	0.901:0.0:0.099:0.0	.	.	.	.	X	101;51	.	ENSP00000262613:K101X	K	+	1	0	SLC9A3R1	70256881	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.636000	0.54317	1.831000	0.53308	0.402000	0.26972	AAG		0.736	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			T	72745286	A	T	72745286	4	4	481	1	0	0	0	0	0	1	0	0	14720	247	9	5	303	5	SLC9A3R1	17	72745286	Nonsense_Mutation	SNP	A	TCGA-BQ-7058-01A-11D-1961-08	10245116	72745286	8449924	44	26022											
FASN	2194	hgsc.bcm.edu	37	17	80038618	80038618	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr17:80038618C>T	ENST00000306749.2	-	39	6994	c.6776G>A	c.(6775-6777)aGc>aAc	p.S2259N	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2259	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGAGGCCAGGCTGTGGAACAC	0.687																																					Colon(59;314 1043 11189 28578 32273)											0													45	45	45					17																	80038618		2191	4290	6481	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6776G>A	chr17.hg19:g.80038618C>T	ENSP00000304592:p.Ser2259Asn		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.242946	0.22796	.	.	ENSG00000169710	ENST00000306749	T	0.26067	1.76	4.47	2.3	0.28687	Thioesterase (1);	0.302769	0.35407	N	0.003229	T	0.10252	0.0251	N	0.08118	0	0.34398	D	0.694932	B	0.06786	0.001	B	0.06405	0.002	T	0.16541	-1.0399	10	0.19147	T	0.46	-34.0126	6.0153	0.19598	0.0:0.6205:0.1749:0.2047	.	2259	P49327	FAS_HUMAN	N	2259	ENSP00000304592:S2259N	ENSP00000304592:S2259N	S	-	2	0	FASN	77631907	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	0.914000	0.28624	1.091000	0.41335	0.591000	0.81541	AGC		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		T	80038618	C	T	80038618	3	4	481	1	0	0	0	0	1	0	0	0	5685	797	28	2	779	2	FASN	17	80038618	Missense_Mutation	SNP	C	TCGA-BQ-7058-01A-11D-1961-08	7293332	80038618	1156592	45	26023											
METTL4	64863	hgsc.bcm.edu	37	18	2554953	2554953	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr18:2554953G>C	ENST00000574538.1	-	4	1319	c.544C>G	c.(544-546)Cag>Gag	p.Q182E	snoU109_ENST00000459316.1_RNA|METTL4_ENST00000319888.6_Missense_Mutation_p.Q182E	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	182					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCCTTGTCCTGTTTTTCAAAA	0.388																																																0													119	124	122					18																	2554953		2203	4300	6503	SO:0001583	missense	64863				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.544C>G	chr18.hg19:g.2554953G>C	ENSP00000458290:p.Gln182Glu		B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	hg19	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	7.036	0.561490	0.13498	.	.	ENSG00000101574	ENST00000319888	T	0.21031	2.03	5.85	0.516	0.17019	.	1.312720	0.04780	N	0.429705	T	0.14743	0.0356	L	0.42245	1.32	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.26744	-1.0094	10	0.02654	T	1	0.1066	4.6714	0.12691	0.2571:0.2993:0.4436:0.0	.	182	Q8N3J2	METL4_HUMAN	E	182	ENSP00000320349:Q182E	ENSP00000320349:Q182E	Q	-	1	0	METTL4	2544953	0.000000	0.05858	0.000000	0.03702	0.916000	0.54674	0.407000	0.21049	0.055000	0.16094	0.655000	0.94253	CAG		0.388	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		C	2554953	G	C	2554953	3	2	481	1	0	0	0	0	1	0	0	0	9504	1386	48	4	898	4	METTL4	18	2554953	Missense_Mutation	SNP	G	TCGA-BQ-7058-01A-11D-1961-08		2554953	75522295	46	26024											
PALM	5064	hgsc.bcm.edu	37	19	746543	746543	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:746543T>G	ENST00000338448.5	+	9	939	c.893T>G	c.(892-894)gTc>gGc	p.V298G	PALM_ENST00000264560.7_Missense_Mutation_p.V254G|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	298					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GAGCCCCCGGTCACAATGATC	0.667																																																0													34	32	32					19																	746543		2203	4299	6502	SO:0001583	missense	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.893T>G	chr19.hg19:g.746543T>G	ENSP00000341911:p.Val298Gly		O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	hg19	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.706659	0.68615	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.28666	1.6;1.6	4.92	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.60627	-0.7226	10	0.87932	D	0	-41.4159	9.8074	0.40801	0.1538:0.0:0.0:0.8462	.	254;298	O75781-2;O75781	.;PALM_HUMAN	G	298;254;163	ENSP00000341911:V298G;ENSP00000264560:V254G	ENSP00000264560:V254G	V	+	2	0	PALM	697543	1.000000	0.71417	0.998000	0.56505	0.546000	0.35178	5.847000	0.69451	1.839000	0.53478	0.379000	0.24179	GTC		0.667	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		G	746543	T	G	746543	3	3	481	1	0	0	0	0	1	0	0	0	11410	1667	58	5	927	5	PALM	19	746543	Missense_Mutation	SNP	T	TCGA-BQ-7058-01A-11D-1961-08		746543	58382440	47	26025											
PIAS4	51588	hgsc.bcm.edu	37	19	4013072	4013072	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:4013072A>C	ENST00000262971.2	+	2	294	c.179A>C	c.(178-180)gAg>gCg	p.E60A		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	60					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATCAAGGAGCTGTACGAG	0.632																																																0													58	57	57					19																	4013072		2203	4300	6503	SO:0001583	missense	51588			AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.179A>C	chr19.hg19:g.4013072A>C	ENSP00000262971:p.Glu60Ala		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	hg19	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769648	0.90020	.	.	ENSG00000105229	ENST00000262971	T	0.39592	1.07	5.14	5.14	0.70334	DNA-binding SAP (1);	0.053905	0.85682	D	0.000000	T	0.60444	0.2269	L	0.61036	1.89	0.53688	D	0.999975	D	0.69078	0.997	D	0.68765	0.96	T	0.64571	-0.6376	10	0.87932	D	0	-35.6334	14.1251	0.65215	1.0:0.0:0.0:0.0	.	60	Q8N2W9	PIAS4_HUMAN	A	60	ENSP00000262971:E60A	ENSP00000262971:E60A	E	+	2	0	PIAS4	3964072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.283000	0.95860	1.938000	0.56188	0.459000	0.35465	GAG		0.632	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		C	4013072	A	C	4013072	3	2	481	1	0	0	0	0	1	0	0	0	11880	304	11	5	185	5	PIAS4	19	4013072	Missense_Mutation	SNP	A	TCGA-BQ-7058-01A-11D-1961-08	3266529	4013072	55115911	48	26026											
FBXW9	84261	hgsc.bcm.edu	37	19	12807385	12807385	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:12807385G>T	ENST00000380339.3	-	1	47	c.11C>A	c.(10-12)cCc>cAc	p.P4H	FBXW9_ENST00000393261.3_Missense_Mutation_p.P4H|FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000587955.1_Missense_Mutation_p.P4H			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	4					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCGCCCTAGGGGAAGCTCCAT	0.662																																																0													34	36	35					19																	12807385		1899	3937	5836	SO:0001583	missense	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.11C>A	chr19.hg19:g.12807385G>T	ENSP00000369696:p.Pro4His		B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	hg19		.	.	.	.	.	.	.	.	.	.	G	12.20	1.867154	0.32977	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.47869	1.86;0.83	3.77	1.64	0.23874	.	0.182213	0.26646	N	0.023231	T	0.42810	0.1219	L	0.27053	0.805	0.22142	N	0.999336	D;D	0.61697	0.99;0.99	P;P	0.55824	0.785;0.785	T	0.20605	-1.0270	10	0.87932	D	0	-7.2791	6.1222	0.20159	0.2273:0.0:0.7727:0.0	.	4;4	Q5XUX1-2;Q5XUX1-3	.;.	H	4	ENSP00000376945:P4H;ENSP00000369696:P4H	ENSP00000369696:P4H	P	-	2	0	FBXW9	12668385	0.169000	0.23002	0.087000	0.20705	0.044000	0.14063	2.195000	0.42677	0.575000	0.29434	0.462000	0.41574	CCC		0.662	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		T	12807385	G	T	12807385	3	4	481	1	0	0	0	0	1	0	0	0	5773	1232	43	4	1405	4	FBXW9	19	12807385	Missense_Mutation	SNP	G	TCGA-BQ-7058-01A-11D-1961-08	8794313	12807385	46321598	49	26027											
RYR1	6261	hgsc.bcm.edu	37	19	38976604	38976604	+	Missense_Mutation	SNP	C	C	T	rs398123472		TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:38976604C>T	ENST00000359596.3	+	34	5309	c.5309C>T	c.(5308-5310)tCg>tTg	p.S1770L	RYR1_ENST00000360985.3_Missense_Mutation_p.S1770L|RYR1_ENST00000355481.4_Missense_Mutation_p.S1770L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1770	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTCACCACTTCGCTGAGGCCC	0.682																																																0													41	40	40					19																	38976604		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5309C>T	chr19.hg19:g.38976604C>T	ENSP00000352608:p.Ser1770Leu		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376736	0.24857	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73469	-0.75;-0.75;-0.75	3.62	3.62	0.41486	.	0.079974	0.50627	U	0.000120	T	0.68311	0.2987	M	0.62723	1.935	0.32730	N	0.509105	P;P	0.52170	0.945;0.951	B;B	0.40134	0.273;0.32	T	0.79472	-0.1789	10	0.72032	D	0.01	.	10.3775	0.44090	0.0:0.612:0.388:0.0	.	1770;1770	P21817-2;P21817	.;RYR1_HUMAN	L	1770	ENSP00000352608:S1770L;ENSP00000347667:S1770L;ENSP00000354254:S1770L	ENSP00000347667:S1770L	S	+	2	0	RYR1	43668444	0.864000	0.29904	1.000000	0.80357	0.159000	0.22180	1.096000	0.30976	1.850000	0.53721	0.585000	0.79938	TCG		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	38976604	C	T	38976604	3	4	481	1	0	0	0	0	1	0	0	0	13774	893	31	1	5443	1	RYR1	19	38976604	Missense_Mutation	SNP	C	TCGA-BQ-7058-01A-11D-1961-08	26169219	38976604	20152379	50	26028											
PSG3	5671	hgsc.bcm.edu	37	19	43237192	43237192	+	Silent	SNP	G	G	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:43237192G>T	ENST00000327495.5	-	3	637	c.453C>A	c.(451-453)atC>atA	p.I151I	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Silent_p.I151I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	151	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGCTGCTGGAGATGGAGGGCT	0.522																																																0													160	160	160					19																	43237192		2203	4300	6503	SO:0001819	synonymous_variant	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.453C>A	chr19.hg19:g.43237192G>T			Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	hg19	CCDS12611.1																																																																																				0.522	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		T	43237192	G	T	43237192	2	4	481	1	0	0	0	0	0	0	0	1	12661	932	33	4		4	PSG3	19	43237192	Silent	SNP	G	TCGA-BQ-7058-01A-11D-1961-08	4260588	43237192	15891791	51	26029											
PCBP3	54039	hgsc.bcm.edu	37	21	47333926	47333926	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr21:47333926T>G	ENST00000400314.1	+	10	1000	c.662T>G	c.(661-663)tTt>tGt	p.F221C	PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400309.1_Missense_Mutation_p.F221C|PCBP3_ENST00000400304.1_Missense_Mutation_p.F189C|PCBP3_ENST00000400310.1_Missense_Mutation_p.F221C|PCBP3_ENST00000449640.1_Missense_Mutation_p.F221C			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	221					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGTCATTTTTGCAGGTGGT	0.602																																																0													64	72	69					21																	47333926		1987	4167	6154	SO:0001583	missense	54039			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.662T>G	chr21.hg19:g.47333926T>G	ENSP00000383168:p.Phe221Cys		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	hg19	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250671	0.80135	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000449640;ENST00000346743;ENST00000400304	T;T;T;T;T	0.47177	1.49;1.41;1.43;1.49;0.85	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	L	0.52364	1.645	0.80722	D	1	D;B;D;B	0.67145	0.986;0.039;0.996;0.004	P;B;P;B	0.58391	0.838;0.099;0.784;0.029	T	0.59445	-0.7453	10	0.48119	T	0.1	-3.3437	14.9659	0.71193	0.0:0.0:0.0:1.0	.	189;221;221;221	E9PFP8;P57721-4;P57721;P57721-5	.;.;PCBP3_HUMAN;.	C	221;221;221;221;221;189	ENSP00000383168:F221C;ENSP00000383165:F221C;ENSP00000383164:F221C;ENSP00000401198:F221C;ENSP00000383159:F189C	ENSP00000330225:F221C	F	+	2	0	PCBP3	46158354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.577000	0.82486	1.933000	0.56026	0.460000	0.39030	TTT		0.602	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			G	47333926	T	G	47333926	3	3	481	1	0	0	0	0	1	0	0	0	11504	1841	64	5	692	5	PCBP3	21	47333926	Missense_Mutation	SNP	T	TCGA-BQ-7058-01A-11D-1961-08		47333926	795969	52	26030											
FAM123B	139285	hgsc.bcm.edu	37	X	63412033	63412033	+	Silent	SNP	A	A	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chrX:63412033A>G	ENST00000330258.3	-	2	1406	c.1134T>C	c.(1132-1134)gaT>gaC	p.D378D	AMER1_ENST00000403336.1_Silent_p.D378D|AMER1_ENST00000374869.3_Silent_p.D378D	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	378	Glu-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									cctcctcGTCATCATCATCTG	0.522																																																67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											153	142	146					X																	63412033		2203	4300	6503	SO:0001819	synonymous_variant	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1134T>C	chrX.hg19:g.63412033A>G			A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	hg19	CCDS14377.2																																																																																				0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		G	63412033	A	G	63412033	2	3	481	1	0	0	0	0	0	0	0	1	5425	214	8	3		3	FAM123B	23	63412033	Silent	SNP	A	TCGA-BQ-7058-01A-11D-1961-08		63412033	91858527	53	26031											
GPRASP1	9737	hgsc.bcm.edu	37	X	101912417	101912418	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chrX:101912417_101912418delTC	ENST00000361600.5	+	5	4377_4378	c.3576_3577delTC	c.(3574-3579)attcgafs	p.IR1192fs	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Frame_Shift_Del_p.IR1192fs|GPRASP1_ENST00000444152.1_Frame_Shift_Del_p.IR1192fs|GPRASP1_ENST00000537097.1_Frame_Shift_Del_p.IR1192fs	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1192	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGATTTCATTCGAGATTCAGG	0.371																																																0																																										SO:0001589	frameshift_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3576_3577delTC	chrX.hg19:g.101912417_101912418delTC	ENSP00000355146:p.Ile1192fs		O43168|Q96LA1	Frame_Shift_Del	DEL	ENST00000361600.5	hg19	CCDS35352.1																																																																																				0.371	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		-	101912418	TC	-	101912417	7	5	481	1	0	1	0	1	0	0	0	0	6724	1771	62	0	3578	0	GPRASP1	23	101912417	Frame_Shift_Del	DEL	TC	TCGA-BQ-7058-01A-11D-1961-08	38500384	101912417	53358143	54	26032											
PEX10	5192	hgsc.bcm.edu	37	1	2340282	2340282	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:2340282C>G	ENST00000447513.2	-	3	277	c.209G>C	c.(208-210)gGg>gCg	p.G70A	PEX10_ENST00000507596.1_Missense_Mutation_p.G70A|PEX10_ENST00000288774.3_Missense_Mutation_p.G70A|PEX10_ENST00000515760.1_5'UTR	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	70					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		GTACTCCTCCCCCAGGGTCTG	0.677																																					GBM(12;9 508 1649 13619)											0													94	95	95					1																	2340282		2203	4300	6503	SO:0001583	missense	5192			AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"RING-type (C3HC4) zinc fingers"	8851	protein-coding gene	gene with protein product		602859	"peroxisome biogenesis factor 10"			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.209G>C	chr1.hg19:g.2340282C>G	ENSP00000407922:p.Gly70Ala		B3KWD8|Q5T095|Q9BW90	Missense_Mutation	SNP	ENST00000447513.2	hg19	CCDS44045.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210641	0.79240	.	.	ENSG00000157911	ENST00000288774;ENST00000447513;ENST00000507596	D;D;D	0.88201	-2.35;-2.35;-2.35	4.48	4.48	0.54585	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95661	0.8589	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96912	0.9668	10	0.87932	D	0	2.6652	16.1137	0.81283	0.0:1.0:0.0:0.0	.	70;70	O60683;O60683-2	PEX10_HUMAN;.	A	70	ENSP00000288774:G70A;ENSP00000407922:G70A;ENSP00000424291:G70A	ENSP00000288774:G70A	G	-	2	0	PEX10	2330142	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	5.505000	0.66981	2.035000	0.60131	0.462000	0.41574	GGG		0.677	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		G	2340282	C	G	2340282	3	3	482	1	0	0	0	0	1	0	0	0	11738	623	22	4	847	4	PEX10	1	2340282	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08		2340282	246910339	1	26033											
PER3	8863	hgsc.bcm.edu	37	1	7887456	7887456	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:7887456G>A	ENST00000361923.2	+	17	2618	c.2443G>A	c.(2443-2445)Gca>Aca	p.A815T	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.A823T	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	815	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGAATACGCAGCCCCCGG	0.622																																																0													67	69	68					1																	7887456		2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2443G>A	chr1.hg19:g.7887456G>A	ENSP00000355031:p.Ala815Thr		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	hg19	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	7.390	0.630557	0.14322	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10192	2.9;2.9	3.68	-2.56	0.06268	.	2.865610	0.00841	N	0.001740	T	0.04003	0.0112	N	0.11427	0.14	0.09310	N	1	B;P;B;B	0.34662	0.07;0.462;0.41;0.07	B;B;B;B	0.24541	0.011;0.054;0.053;0.011	T	0.20009	-1.0288	10	0.17369	T	0.5	.	0.9429	0.01359	0.3343:0.3073:0.2098:0.1487	.	815;823;823;815	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	T	823;815;26	ENSP00000366755:A823T;ENSP00000355031:A815T	ENSP00000355031:A815T	A	+	1	0	PER3	7810043	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.918000	0.28678	-0.394000	0.07727	0.561000	0.74099	GCA		0.622	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		A	7887456	G	A	7887456	3	1	482	1	0	0	0	0	1	0	0	0	11733	1087	38	1	2509	1	PER3	1	7887456	Missense_Mutation	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	5547174	7887456	241363165	2	26034											
YARS	8565	hgsc.bcm.edu	37	1	33246690	33246690	+	Silent	SNP	G	G	T	rs376054085		TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:33246690G>T	ENST00000373477.4	-	10	2007	c.1099C>A	c.(1099-1101)Cgg>Agg	p.R367R	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	367	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)	p.R367W(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	ATATCCAGCCGGGATGGGATG	0.507																																																1	Substitution - Missense(1)	large_intestine(1)											135	123	127					1																	33246690		2203	4300	6503	SO:0001819	synonymous_variant	8565			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1099C>A	chr1.hg19:g.33246690G>T			B3KWK4|D3DPQ4|O43276|Q53EN1	Silent	SNP	ENST00000373477.4	hg19	CCDS368.1																																																																																				0.507	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		T	33246690	G	T	33246690	2	4	482	1	0	0	0	0	0	0	0	1	17472	1115	39	4		4	YARS	1	33246690	Silent	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	25359234	33246690	216003931	3	26035											
THRAP3	9967	hgsc.bcm.edu	37	1	36767245	36767245	+	Frame_Shift_Del	DEL	G	G	-	rs566092059		TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:36767245delG	ENST00000354618.5	+	11	2818	c.2594delG	c.(2593-2595)cggfs	p.R865fs	THRAP3_ENST00000469141.2_Frame_Shift_Del_p.R865fs	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	865	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAAGAAACCGGGAAGAGGAG	0.478			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													66	68	67					1																	36767245		2203	4300	6503	SO:0001589	frameshift_variant	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2594delG	chr1.hg19:g.36767245delG	ENSP00000346634:p.Arg865fs		D3DPS5|Q5VTK6	Frame_Shift_Del	DEL	ENST00000354618.5	hg19	CCDS405.1																																																																																				0.478	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		-	36767245	G	-	36767245	7	5	482	1	0	1	0	1	0	0	0	0	15879	1116	39	0	2628	0	THRAP3	1	36767245	Frame_Shift_Del	DEL	G	TCGA-BQ-7059-01A-11D-1961-08	3520555	36767245	212483376	4	26036											
ATXN7L2	127002	hgsc.bcm.edu	37	1	110034064	110034064	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:110034064C>A	ENST00000369870.3	+	10	1894	c.1879C>A	c.(1879-1881)Ctg>Atg	p.L627M	CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000430195.2_5'Flank|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|CYB561D1_ENST00000393709.3_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000310611.4_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	627										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCAGGGCCCCTGGACTGTCG	0.622																																																0													35	40	38					1																	110034064		2203	4300	6503	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1879C>A	chr1.hg19:g.110034064C>A	ENSP00000358886:p.Leu627Met			Missense_Mutation	SNP	ENST00000369870.3	hg19	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514316	0.44763	.	.	ENSG00000162650	ENST00000369870;ENST00000369869	T	0.38560	1.13	5.36	3.26	0.37387	.	0.440276	0.19115	N	0.122331	T	0.23451	0.0567	N	0.24115	0.695	0.25930	N	0.983008	P;D	0.64830	0.946;0.994	P;P	0.55222	0.714;0.771	T	0.04678	-1.0934	10	0.72032	D	0.01	-0.0215	7.9316	0.29905	0.0:0.7788:0.0:0.2212	.	254;627	Q5T6C4;Q5T6C5	.;AT7L2_HUMAN	M	627;254	ENSP00000358886:L627M	ENSP00000358885:L254M	L	+	1	2	ATXN7L2	109835587	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.056000	0.41355	0.647000	0.30713	-0.258000	0.10820	CTG		0.622	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		A	110034064	C	A	110034064	3	1	482	1	0	0	0	0	1	0	0	0	1217	680	24	4	1917	4	ATXN7L2	1	110034064	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08	73266819	110034064	139216557	5	26037											
INSRR	3645	hgsc.bcm.edu	37	1	156811976	156811976	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:156811976T>G	ENST00000368195.3	-	19	3721	c.3325A>C	c.(3325-3327)Aac>Cac	p.N1109H	NTRK1_ENST00000392302.2_Missense_Mutation_p.L38W	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACAAACTTGTTGGCAGCAAGG	0.572																																																0													104	95	98					1																	156811976		2203	4300	6503	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3325A>C	chr1.hg19:g.156811976T>G	ENSP00000357178:p.Asn1109His		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	hg19	CCDS1160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.413045|4.413045	0.83449|0.83449	.|.	.|.	ENSG00000198400|ENSG00000027644	ENST00000392302|ENST00000368195	T|D	0.76839|0.82803	-1.05|-1.65	4.83|4.83	4.83|4.83	0.62350|0.62350	.|Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.260110	.|0.27223	.|N	.|0.020345	T|T	0.67664|0.67664	0.2917|0.2917	N|N	0.17594|0.17594	0.5|0.5	0.37606|0.37606	D|D	0.920732|0.920732	D|P	0.76494|0.41102	0.999|0.738	D|P	0.64042|0.44623	0.921|0.455	T|T	0.76490|0.76490	-0.2940|-0.2940	9|10	0.87932|0.72032	D|D	0|0.01	.|.	13.364|13.364	0.60674|0.60674	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	38|1109	A6NF12|P14616	.|INSRR_HUMAN	W|H	38|1109	ENSP00000376120:L38W|ENSP00000357178:N1109H	ENSP00000376120:L38W|ENSP00000357178:N1109H	L|N	+|-	2|1	0|0	NTRK1|INSRR	155078600|155078600	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	7.868000|7.868000	0.87116|0.87116	2.041000|2.041000	0.60428|0.60428	0.459000|0.459000	0.35465|0.35465	TTG|AAC		0.572	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		G	156811976	T	G	156811976	3	3	482	1	0	0	0	0	1	0	0	0	7776	1821	63	5	583	5	INSRR	1	156811976	Missense_Mutation	SNP	T	TCGA-BQ-7059-01A-11D-1961-08	46777912	156811976	92438645	6	26038											
PLEKHA6	22874	hgsc.bcm.edu	37	1	204198070	204198070	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:204198070T>C	ENST00000272203.3	-	19	3062	c.2746A>G	c.(2746-2748)Aag>Gag	p.K916E	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K936E	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	916										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTCACCTCCTTATTGATGTCC	0.587																																																0													116	112	113					1																	204198070		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2746A>G	chr1.hg19:g.204198070T>C	ENSP00000272203:p.Lys916Glu		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	hg19	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.148801	0.57151	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.45276	0.9;0.9	5.3	5.3	0.74995	.	0.265846	0.36628	N	0.002497	T	0.59649	0.2209	M	0.72894	2.215	0.35019	D	0.757628	D	0.58268	0.982	D	0.67548	0.952	T	0.71002	-0.4718	10	0.49607	T	0.09	-32.3486	10.459	0.44567	0.0:0.0786:0.0:0.9214	.	916	Q9Y2H5	PKHA6_HUMAN	E	916;936	ENSP00000272203:K916E;ENSP00000402046:K936E	ENSP00000272203:K916E	K	-	1	0	PLEKHA6	202464693	1.000000	0.71417	0.875000	0.34327	0.332000	0.28634	5.520000	0.67080	1.995000	0.58328	0.460000	0.39030	AAG		0.587	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		C	204198070	T	C	204198070	3	2	482	1	0	0	0	0	1	0	0	0	12062	1763	61	3	416	3	PLEKHA6	1	204198070	Missense_Mutation	SNP	T	TCGA-BQ-7059-01A-11D-1961-08	47386094	204198070	45052551	7	26039											
TP53BP2	7159	hgsc.bcm.edu	37	1	223984099	223984099	+	Silent	SNP	A	A	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:223984099A>G	ENST00000343537.7	-	13	2433	c.2142T>C	c.(2140-2142)aaT>aaC	p.N714N	TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000391878.2_Silent_p.N585N|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	708					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTCGGTAAGGATTAGATAAGA	0.438																																																0													143	139	140					1																	223984099		2203	4300	6503	SO:0001819	synonymous_variant	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2142T>C	chr1.hg19:g.223984099A>G			B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	hg19	CCDS44319.1																																																																																				0.438	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		G	223984099	A	G	223984099	2	3	482	1	0	0	0	0	0	0	0	1	16389	330	12	3		3	TP53BP2	1	223984099	Silent	SNP	A	TCGA-BQ-7059-01A-11D-1961-08	19786029	223984099	25266522	8	26040											
DUSP11	8446	hgsc.bcm.edu	37	2	74007101	74007101	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr2:74007101T>C	ENST00000272444.3	-	1	183	c.142A>G	c.(142-144)Atg>Gtg	p.M48V	DUSP11_ENST00000377706.4_Start_Codon_SNP_p.M1V|DUSP11_ENST00000443070.1_Missense_Mutation_p.M48V|DUSP11_ENST00000480948.1_5'Flank	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	1					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CACTGGCTCATGTGGGTCCCA	0.607											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													61	61	61					2																	74007101		2203	4300	6503	SO:0001583	missense	8446			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.142A>G	chr2.hg19:g.74007101T>C	ENSP00000272444:p.Met48Val	1149	B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	hg19	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742276	0.49151	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706	T;T	0.32988	1.43;2.01	4.6	4.6	0.57074	.	0.059637	0.56097	D	0.000024	T	0.35008	0.0917	.	.	.	0.80722	D	1	P;D	0.55172	0.882;0.97	B;P	0.48627	0.428;0.584	T	0.10291	-1.0636	9	0.51188	T	0.08	-4.2088	10.6571	0.45682	0.0:0.0:0.0:1.0	.	48;1	C9JYA6;O75319	.;DUS11_HUMAN	V	48;48;1	ENSP00000413444:M48V;ENSP00000366935:M1V	ENSP00000272444:M48V	M	-	1	0	DUSP11	73860609	1.000000	0.71417	0.998000	0.56505	0.013000	0.08279	3.027000	0.49697	2.285000	0.76669	0.533000	0.62120	ATG		0.607	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			C	74007101	T	C	74007101	3	2	482	1	0	0	0	0	1	0	0	0	4813	1464	51	3	1027	3	DUSP11	2	74007101	Missense_Mutation	SNP	T	TCGA-BQ-7059-01A-11D-1961-08		74007101	169192272	9	26041											
RAPGEF4	11069	hgsc.bcm.edu	37	2	173885421	173885421	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr2:173885421C>A	ENST00000397081.3	+	23	2374	c.2231C>A	c.(2230-2232)cCg>cAg	p.P744Q	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.P573Q|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.P600Q|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.P591Q|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.P743Q|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.P744Q|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.P524Q|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.P591Q	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	744					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTTGCTTGCCCGCGAGAGCAA	0.448																																																0													179	166	170					2																	173885421		1902	4125	6027	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2231C>A	chr2.hg19:g.173885421C>A	ENSP00000380271:p.Pro744Gln		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	hg19	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803308	0.70682	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.63913	0.15;0.15;-0.07;0.04;0.04;0.16;0.16;-0.05	5.77	5.77	0.91146	Ras-association (1);Ras guanine nucleotide exchange factor, domain (1);	0.054509	0.85682	D	0.000000	T	0.71476	0.3344	M	0.62723	1.935	0.80722	D	1	P;B	0.52463	0.953;0.297	P;B	0.52646	0.705;0.239	T	0.67300	-0.5705	10	0.30854	T	0.27	.	19.9915	0.97366	0.0:1.0:0.0:0.0	.	600;744	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	Q	743;744;744;600;573;591;591;524	ENSP00000264111:P743Q;ENSP00000380271:P744Q;ENSP00000387104:P744Q;ENSP00000380276:P600Q;ENSP00000440135:P573Q;ENSP00000440250:P591Q;ENSP00000437384:P591Q;ENSP00000438011:P524Q	ENSP00000264111:P743Q	P	+	2	0	RAPGEF4	173593667	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	4.812000	0.62613	2.723000	0.93209	0.655000	0.94253	CCG		0.448	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		A	173885421	C	A	173885421	3	1	482	1	0	0	0	0	1	0	0	0	13052	652	23	4	2337	4	RAPGEF4	2	173885421	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08	99878320	173885421	69313952	10	26042											
CNTN6	27255	hgsc.bcm.edu	37	3	1371578	1371578	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr3:1371578C>G	ENST00000446702.2	+	11	1950	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	CNTN6_ENST00000539053.1_Missense_Mutation_p.I369M|CNTN6_ENST00000350110.2_Missense_Mutation_p.I441M			Q9UQ52	CNTN6_HUMAN	contactin 6	441	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGCAGCTATCTCTTGGAAAA	0.333																																																0													57	59	58					3																	1371578		2202	4299	6501	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1323C>G	chr3.hg19:g.1371578C>G	ENSP00000407822:p.Ile441Met		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	hg19	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929637	0.52759	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.72282	-0.64;-0.64;-0.64	5.71	0.115	0.14643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.491996	0.18537	N	0.138338	T	0.81128	0.4758	M	0.92604	3.325	0.09310	N	1	P	0.48350	0.909	P	0.57371	0.819	T	0.70901	-0.4746	10	0.72032	D	0.01	.	4.4769	0.11748	0.0:0.2343:0.1888:0.5769	.	441	Q9UQ52	CNTN6_HUMAN	M	441;369;441	ENSP00000407822:I441M;ENSP00000442791:I369M;ENSP00000341882:I441M	ENSP00000341882:I441M	I	+	3	3	CNTN6	1346578	0.000000	0.05858	0.482000	0.27366	0.987000	0.75469	-0.078000	0.11375	0.093000	0.17368	0.563000	0.77884	ATC		0.333	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		G	1371578	C	G	1371578	3	3	482	1	0	0	0	0	1	0	0	0	3647	903	32	4	1361	4	CNTN6	3	1371578	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08		1371578	196650852	11	26043											
OGG1	8536	hgsc.bcm.edu	37	3	9800959	9800960	+	Intron	INS	-	-	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr3:9800959_9800960insT	ENST00000256460.3	-	10	1090				OGG1_ENST00000302008.8_Frame_Shift_Ins_p.R347fs|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I						cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		ACTTCTTCCTCTAGACTTGGAG	0.46																																																0																																										SO:0001627	intron_variant	4968			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.912+211->A	chr3.hg19:g.9800960_9800960dupT			Q3KPF6	Frame_Shift_Ins	INS	ENST00000256460.3	hg19	CCDS2582.1																																																																																				0.46	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		T	9800960	-	T	9800959	6	5	482	0	1	1	1	0	0	0	0	0	10847	913	32	0		0	OGG1	3	9800959	Intron	INS	-	TCGA-BQ-7059-01A-11D-1961-08	8429381	9800959	188221471	12	26044											
CHDH	55349	hgsc.bcm.edu	37	3	53857341	53857341	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr3:53857341A>G	ENST00000315251.6	-	3	1132	c.695T>C	c.(694-696)aTc>aCc	p.I232T		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	232					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	ACCTTCATGGATGGTCATGTC	0.612																																																0													46	48	47					3																	53857341		2203	4300	6503	SO:0001583	missense	55349			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.695T>C	chr3.hg19:g.53857341A>G	ENSP00000319851:p.Ile232Thr		Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	hg19	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898970	0.52227	.	.	ENSG00000016391	ENST00000315251	T	0.39592	1.07	5.72	5.72	0.89469	Glucose-methanol-choline oxidoreductase, N-terminal (1);	0.161948	0.52532	D	0.000066	T	0.56046	0.1959	L	0.55103	1.725	0.53688	D	0.999973	D	0.63046	0.992	D	0.66084	0.941	T	0.57106	-0.7868	10	0.52906	T	0.07	-30.1407	11.1366	0.48378	0.8624:0.0:0.0:0.1376	.	232	Q8NE62	CHDH_HUMAN	T	232	ENSP00000319851:I232T	ENSP00000319851:I232T	I	-	2	0	CHDH	53832381	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.882000	0.92420	2.182000	0.69389	0.455000	0.32223	ATC		0.612	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		G	53857341	A	G	53857341	3	3	482	1	0	0	0	0	1	0	0	0	3335	333	12	3	1117	3	CHDH	3	53857341	Missense_Mutation	SNP	A	TCGA-BQ-7059-01A-11D-1961-08	44056382	53857341	144165089	13	26045											
PDS5A	23244	hgsc.bcm.edu	37	4	39978137	39978137	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr4:39978137C>A	ENST00000303538.8	-	2	600	c.61G>T	c.(61-63)Ggg>Tgg	p.G21W	PDS5A_ENST00000503396.1_Missense_Mutation_p.G21W	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GCGATCTTCCCGTCGGCACTC	0.572											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													108	119	116					4																	39978137		1980	4154	6134	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.61G>T	chr4.hg19:g.39978137C>A	ENSP00000303427:p.Gly21Trp	890		Missense_Mutation	SNP	ENST00000303538.8	hg19	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561627	0.86335	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	4.0	4.0	0.46444	.	0.249770	0.26453	U	0.024297	T	0.74935	0.3782	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.79784	0.98;0.993	T	0.75519	-0.3289	8	.	.	.	-4.2139	14.4859	0.67616	0.0:1.0:0.0:0.0	.	21;21	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	W	21	.	.	G	-	1	0	PDS5A	39654532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.320000	0.79064	2.077000	0.62373	0.591000	0.81541	GGG		0.572	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		A	39978137	C	A	39978137	3	1	482	1	0	0	0	0	1	0	0	0	11693	652	23	4	4113	4	PDS5A	4	39978137	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08		39978137	151176139	14	26046											
SLC30A9	10463	hgsc.bcm.edu	37	4	42072612	42072612	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr4:42072612T>A	ENST00000264451.7	+	15	1502	c.1322T>A	c.(1321-1323)cTc>cAc	p.L441H		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	441					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCAGCATTCCTCATCTACACT	0.458																																																0													211	177	188					4																	42072612		2203	4300	6503	SO:0001583	missense	10463			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1322T>A	chr4.hg19:g.42072612T>A	ENSP00000264451:p.Leu441His		Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	hg19	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512256	0.85389	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.71817	-0.6	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.87188	0.6115	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90228	0.4277	10	0.87932	D	0	-6.7973	15.4439	0.75213	0.0:0.0:0.0:1.0	.	441	Q6PML9	ZNT9_HUMAN	H	441;269	ENSP00000264451:L441H	ENSP00000264451:L441H	L	+	2	0	SLC30A9	41767369	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.951000	0.87819	2.099000	0.63709	0.533000	0.62120	CTC		0.458	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			A	42072612	T	A	42072612	3	1	482	1	0	0	0	0	1	0	0	0	14568	1551	54	5	1380	5	SLC30A9	4	42072612	Missense_Mutation	SNP	T	TCGA-BQ-7059-01A-11D-1961-08	2094475	42072612	149081664	15	26047											
WDFY3	23001	hgsc.bcm.edu	37	4	85781624	85781624	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr4:85781624G>A	ENST00000295888.4	-	4	528	c.121C>T	c.(121-123)Cac>Tac	p.H41Y	WDFY3_ENST00000322366.6_Missense_Mutation_p.H41Y	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	41					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGAGTCATGTGCCGGGGAGGA	0.577																																																0													140	129	133					4																	85781624		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.121C>T	chr4.hg19:g.85781624G>A	ENSP00000295888:p.His41Tyr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238404	0.79800	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000509172	T;T	0.63744	-0.06;-0.06	5.72	5.72	0.89469	.	0.045076	0.85682	D	0.000000	T	0.43255	0.1239	N	0.08118	0	0.80722	D	1	D;D	0.52996	0.957;0.957	B;B	0.43575	0.402;0.424	T	0.48364	-0.9042	10	0.02654	T	1	.	19.8968	0.96969	0.0:0.0:1.0:0.0	.	41;41	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	Y	41	ENSP00000318466:H41Y;ENSP00000295888:H41Y	ENSP00000295888:H41Y	H	-	1	0	WDFY3	86000648	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.580000	0.98207	2.691000	0.91804	0.655000	0.94253	CAC		0.577	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		A	85781624	G	A	85781624	3	1	482	1	0	0	0	0	1	0	0	0	17275	1319	46	2	10762	2	WDFY3	4	85781624	Missense_Mutation	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	43709012	85781624	105372652	16	26048											
NR3C2	4306	hgsc.bcm.edu	37	4	149357285	149357285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr4:149357285delT	ENST00000358102.3	-	2	1090	c.728delA	c.(727-729)aatfs	p.N243fs	NR3C2_ENST00000355292.3_Frame_Shift_Del_p.N243fs|NR3C2_ENST00000512865.1_Frame_Shift_Del_p.N243fs|NR3C2_ENST00000344721.4_Frame_Shift_Del_p.N243fs|NR3C2_ENST00000511528.1_Frame_Shift_Del_p.N243fs	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	243	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GGAGCCTCGATTTTCAACATT	0.527																																					Melanoma(27;428 957 40335 51025 51111)											0													74	76	75					4																	149357285		2203	4300	6503	SO:0001589	frameshift_variant	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.728delA	chr4.hg19:g.149357285delT	ENSP00000350815:p.Asn243fs		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Frame_Shift_Del	DEL	ENST00000358102.3	hg19	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			-	149357285	T	-	149357285	7	5	482	1	0	1	0	1	0	0	0	0	10633	1493	52	0	2258	0	NR3C2	4	149357285	Frame_Shift_Del	DEL	T	TCGA-BQ-7059-01A-11D-1961-08	63575661	149357285	41796991	17	26049											
RAD50	10111	hgsc.bcm.edu	37	5	131976367	131976367	+	Silent	SNP	T	T	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr5:131976367T>C	ENST00000265335.6	+	24	4009	c.3622T>C	c.(3622-3624)Tta>Cta	p.L1208L	AC004041.2_ENST00000457489.1_RNA|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000417516.1_RNA|RAD50_ENST00000378823.3_Silent_p.L1069L			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1208	Ala/Asp-rich (DA-box).				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCCAGGTATTAGCCTCACT	0.498								Homologous recombination																																								0													168	156	160					5																	131976367		2203	4300	6503	SO:0001819	synonymous_variant	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3622T>C	chr5.hg19:g.131976367T>C			B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	hg19	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.963735	0.34659	.	.	ENSG00000113522	ENST00000455677	.	.	.	5.94	1.0	0.19881	.	.	.	.	.	T	0.55226	0.1907	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.46275	-0.9203	4	.	.	.	-7.5964	8.3809	0.32470	0.0:0.5216:0.0:0.4784	.	.	.	.	T	86	.	.	I	+	2	0	RAD50	132004266	0.068000	0.21057	0.032000	0.17829	0.920000	0.55202	0.417000	0.21214	0.177000	0.19895	0.528000	0.53228	ATT		0.498	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		C	131976367	T	C	131976367	2	2	482	1	0	0	0	0	0	0	0	1	12990	1490	52	3		3	RAD50	5	131976367	Silent	SNP	T	TCGA-BQ-7059-01A-11D-1961-08		131976367	48938893	18	26050											
MAML1	9794	hgsc.bcm.edu	37	5	179193559	179193560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr5:179193559_179193560insC	ENST00000292599.3	+	2	1811_1812	c.1548_1549insC	c.(1549-1551)cccfs	p.P517fs	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAATACAAAACCCCTTTCTCA	0.559																																																0																																										SO:0001589	frameshift_variant	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1552dupC	chr5.hg19:g.179193563_179193563dupC	ENSP00000292599:p.Pro517fs			Frame_Shift_Ins	INS	ENST00000292599.3	hg19	CCDS34315.1																																																																																				0.559	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		C	179193560	-	C	179193559	7	5	482	1	0	1	1	0	0	0	0	0	9207	40	2	0	1554	0	MAML1	5	179193559	Frame_Shift_Ins	INS	-	TCGA-BQ-7059-01A-11D-1961-08	47217192	179193559	1721701	19	26051											
TBC1D9B	23061	hgsc.bcm.edu	37	5	179318454	179318455	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr5:179318454_179318455insA	ENST00000356834.3	-	6	1005_1006	c.968_969insT	c.(967-969)atgfs	p.M323fs	TBC1D9B_ENST00000355235.3_Frame_Shift_Ins_p.M323fs	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	323	GRAM 2.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAGATGAACATCTGGCCAGG	0.599																																																0																																										SO:0001589	frameshift_variant	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.969dupT	chr5.hg19:g.179318455_179318455dupA	ENSP00000349291:p.Met323fs		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Frame_Shift_Ins	INS	ENST00000356834.3	hg19	CCDS43408.1																																																																																				0.599	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		A	179318455	-	A	179318454	7	5	482	1	0	1	1	0	0	0	0	0	15633	478	17	0	2851	0	TBC1D9B	5	179318454	Frame_Shift_Ins	INS	-	TCGA-BQ-7059-01A-11D-1961-08	124895	179318454	1596806	20	26052											
TRIM38	10475	hgsc.bcm.edu	37	6	25967011	25967011	+	Silent	SNP	G	G	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr6:25967011G>C	ENST00000357085.3	+	3	737	c.261G>C	c.(259-261)acG>acC	p.T87T	TRIM38_ENST00000349458.3_Silent_p.T87T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	87					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.T87T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TCAAAGAGACGGATCAAGAAA	0.562																																																1	Substitution - coding silent(1)	lung(1)											61	58	59					6																	25967011		2203	4300	6503	SO:0001819	synonymous_variant	10475			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.261G>C	chr6.hg19:g.25967011G>C			B2R862	Silent	SNP	ENST00000357085.3	hg19	CCDS4568.1																																																																																				0.562	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			C	25967011	G	C	25967011	2	2	482	1	0	0	0	0	0	0	0	1	16517	1103	39	4		4	TRIM38	6	25967011	Silent	SNP	G	TCGA-BQ-7059-01A-11D-1961-08		25967011	145148056	21	26053											
ITPR3	3710	hgsc.bcm.edu	37	6	33644599	33644599	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr6:33644599G>A	ENST00000374316.5	+	27	4397	c.3337G>A	c.(3337-3339)Gag>Aag	p.E1113K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E1113K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1113					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GATCAAGTCGGAGCTGGACCG	0.622																																																0													93	80	85					6																	33644599		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.3337G>A	chr6.hg19:g.33644599G>A	ENSP00000363435:p.Glu1113Lys		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587672	0.86851	.	.	ENSG00000096433	ENST00000374316	D	0.91237	-2.81	5.22	5.22	0.72569	.	0.111019	0.64402	D	0.000010	D	0.85822	0.5786	L	0.44542	1.39	0.58432	D	0.999993	P	0.45594	0.862	B	0.41917	0.37	D	0.88575	0.3132	10	0.87932	D	0	-36.8399	18.8137	0.92070	0.0:0.0:1.0:0.0	.	1113	Q14573	ITPR3_HUMAN	K	1113	ENSP00000363435:E1113K	ENSP00000363435:E1113K	E	+	1	0	ITPR3	33752577	1.000000	0.71417	0.943000	0.38184	0.927000	0.56198	8.010000	0.88615	2.435000	0.82474	0.655000	0.94253	GAG		0.622	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		A	33644599	G	A	33644599	3	1	482	1	0	0	0	0	1	0	0	0	7924	1175	41	2	3439	2	ITPR3	6	33644599	Missense_Mutation	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	7677588	33644599	137470468	22	26054											
DOPEY1	23033	hgsc.bcm.edu	37	6	83839062	83839062	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr6:83839062C>A	ENST00000349129.2	+	16	2436	c.2176C>A	c.(2176-2178)Caa>Aaa	p.Q726K	DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q707K|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q717K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	726					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAGAAATTCACAAGGAGATGT	0.398																																																0													78	77	78					6																	83839062		2203	4300	6503	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2176C>A	chr6.hg19:g.83839062C>A	ENSP00000195654:p.Gln726Lys		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	hg19	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151734	0.38021	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.21734	1.99;1.99	5.68	5.68	0.88126	.	0.594531	0.18093	N	0.151930	T	0.15392	0.0371	L	0.57536	1.79	0.80722	D	1	B;B;B	0.15473	0.004;0.013;0.004	B;B;B	0.13407	0.006;0.009;0.006	T	0.02610	-1.1134	10	0.32370	T	0.25	.	19.7974	0.96491	0.0:1.0:0.0:0.0	.	617;717;726	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	K	726;707;707	ENSP00000195654:Q726K;ENSP00000237163:Q707K	ENSP00000237163:Q707K	Q	+	1	0	DOPEY1	83895781	0.879000	0.30193	0.997000	0.53966	0.964000	0.63967	3.092000	0.50207	2.673000	0.90976	0.650000	0.86243	CAA		0.398	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		A	83839062	C	A	83839062	3	1	482	1	0	0	0	0	1	0	0	0	4709	479	17	4	2230	4	DOPEY1	6	83839062	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08	50194463	83839062	87276005	23	26055											
FAM120B	84498	hgsc.bcm.edu	37	6	170700175	170700175	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr6:170700175C>G	ENST00000476287.1	+	8	2673	c.2565C>G	c.(2563-2565)atC>atG	p.I855M	FAM120B_ENST00000252510.9_Missense_Mutation_p.I187M|FAM120B_ENST00000540480.1_Missense_Mutation_p.I867M|FAM120B_ENST00000537664.1_Missense_Mutation_p.I878M	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	855					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ACAGACGCATCACTGGCCGAG	0.562																																																0													72	62	65					6																	170700175		2203	4300	6503	SO:0001583	missense	84498			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2565C>G	chr6.hg19:g.170700175C>G	ENSP00000417970:p.Ile855Met		B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	hg19	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500782	0.26861	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287;ENST00000252510	T;T;T	0.09723	2.96;2.95;2.97	5.5	-3.03	0.05429	.	0.167917	0.40469	N	0.001099	T	0.06371	0.0164	L	0.27053	0.805	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.967;0.974	T	0.22382	-1.0218	10	0.56958	D	0.05	-19.2842	7.8011	0.29174	0.1064:0.3727:0.0:0.5209	.	855;855	Q96EK7;F2Z2E1	F120B_HUMAN;.	M	867;878;855;187	ENSP00000444125:I867M;ENSP00000440125:I878M;ENSP00000417970:I855M	ENSP00000252510:I187M	I	+	3	3	FAM120B	170542100	0.002000	0.14202	0.000000	0.03702	0.051000	0.14879	-0.226000	0.09139	-0.631000	0.05560	0.655000	0.94253	ATC		0.562	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		G	170700175	C	G	170700175	3	3	482	1	0	0	0	0	1	0	0	0	5419	816	29	4	2591	4	FAM120B	6	170700175	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08	86861113	170700175	414892	24	26056											
KLHL7	55975	hgsc.bcm.edu	37	7	23163475	23163476	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr7:23163475_23163476insT	ENST00000339077.5	+	2	443_444	c.200_201insT	c.(199-204)cattttfs	p.HF67fs	KLHL7_ENST00000545771.1_Frame_Shift_Ins_p.HF45fs|KLHL7_ENST00000322231.7_Frame_Shift_Ins_p.HF45fs|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000545443.1_Frame_Shift_Ins_p.HF45fs|KLHL7_ENST00000409689.1_Frame_Shift_Ins_p.HF19fs|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000322275.5_Frame_Shift_Ins_p.HF67fs|KLHL7_ENST00000410047.1_Frame_Shift_Ins_p.HF45fs|KLHL7_ENST00000479288.1_Intron	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	67	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAGCCAGTCATTTTTTTAACT	0.332																																																0																																										SO:0001589	frameshift_variant	55975				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.207dupT	chr7.hg19:g.23163482_23163482dupT	ENSP00000343273:p.His67fs		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Frame_Shift_Ins	INS	ENST00000339077.5	hg19	CCDS34609.1																																																																																				0.332	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		T	23163476	-	T	23163475	7	5	482	1	0	1	1	0	0	0	0	0	8396	217	8	0	206	0	KLHL7	7	23163475	Frame_Shift_Ins	INS	-	TCGA-BQ-7059-01A-11D-1961-08		23163475	135975188	25	26057											
OGDH	4967	hgsc.bcm.edu	37	7	44685022	44685022	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr7:44685022G>T	ENST00000222673.5	+	3	361	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	OGDH_ENST00000543843.1_Missense_Mutation_p.V47L|OGDH_ENST00000447398.1_Missense_Mutation_p.V107L|OGDH_ENST00000444676.1_Missense_Mutation_p.V107L|OGDH_ENST00000449767.1_Missense_Mutation_p.V107L|OGDH_ENST00000443864.2_Missense_Mutation_p.V107L|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	107					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCTGGCTGCTGTGGCCCATGC	0.597																																																0													85	83	83					7																	44685022		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.319G>T	chr7.hg19:g.44685022G>T	ENSP00000222673:p.Val107Leu		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	hg19	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775197	0.31411	.	.	ENSG00000105953	ENST00000443864;ENST00000449767;ENST00000447398;ENST00000419661;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.81	-4.96	0.03038	.	1.033080	0.07585	N	0.921017	T	0.10680	0.0261	N	0.02181	-0.65	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.27054	-1.0085	10	0.05620	T	0.96	-2.8184	1.8649	0.03196	0.4868:0.1815:0.1602:0.1715	.	107;107;107;107	E9PBM1;E9PDF2;Q02218;Q96DD3	.;.;ODO1_HUMAN;.	L	107;107;107;107;107;107;47	ENSP00000388084:V107L;ENSP00000392878:V107L;ENSP00000388183:V107L;ENSP00000411830:V107L;ENSP00000414662:V107L;ENSP00000222673:V107L;ENSP00000443821:V47L	ENSP00000222673:V107L	V	+	1	0	OGDH	44651547	0.003000	0.15002	0.000000	0.03702	0.974000	0.67602	0.473000	0.22132	-0.618000	0.05656	0.655000	0.94253	GTG		0.597	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			T	44685022	G	T	44685022	3	4	482	1	0	0	0	0	1	0	0	0	10841	1377	48	4	325	4	OGDH	7	44685022	Missense_Mutation	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	21521547	44685022	114453641	26	26058											
MET	4233	hgsc.bcm.edu	37	7	116423407	116423407	+	Missense_Mutation	SNP	G	G	C	rs121913671		TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr7:116423407G>C	ENST00000318493.6	+	19	3923	c.3736G>C	c.(3736-3738)Gac>Cac	p.D1246H	MET_ENST00000539704.1_Missense_Mutation_p.D98H|MET_ENST00000397752.3_Missense_Mutation_p.D1228H			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D1246H(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTTGCCAGAGACATGTATGA	0.378			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM970946	MET	M	rs121913671						106	99	102					7																	116423407		1841	4093	5934	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3736G>C	chr7.hg19:g.116423407G>C	ENSP00000317272:p.Asp1246His		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285616	0.80803	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	D;D;D	0.83837	-1.77;-1.77;-1.77	5.46	5.46	0.80206	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91327	0.7265	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91745	0.5407	10	0.87932	D	0	.	19.6667	0.95895	0.0:0.0:1.0:0.0	.	1246;1228	P08581-2;P08581	.;MET_HUMAN	H	1228;1246;98	ENSP00000380860:D1228H;ENSP00000317272:D1246H;ENSP00000445020:D98H	ENSP00000317272:D1246H	D	+	1	0	MET	116210643	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.813000	0.99286	2.721000	0.93114	0.563000	0.77884	GAC		0.378	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			C	116423407	G	C	116423407	3	2	482	1	0	0	0	0	1	0	0	0	9487	942	33	4	3806	4	MET	7	116423407	Missense_Mutation	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	71738385	116423407	42715256	27	26059											
MCPH1	79648	hgsc.bcm.edu	37	8	6335132	6335133	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr8:6335132_6335133insA	ENST00000344683.5	+	10	2029_2030	c.1953_1954insA	c.(1954-1956)atgfs	p.M652fs		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	652	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAACATTAGTCATGACAAGCAT	0.317																																					Colon(95;1448 1467 8277 34473 35819)											0																																										SO:0001589	frameshift_variant	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1954dupA	chr8.hg19:g.6335133_6335133dupA	ENSP00000342924:p.Met652fs		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Ins	INS	ENST00000344683.5	hg19	CCDS43689.1																																																																																				0.317	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		A	6335133	-	A	6335132	7	5	482	1	0	1	1	0	0	0	0	0	9400	813	29	0	1999	0	MCPH1	8	6335132	Frame_Shift_Ins	INS	-	TCGA-BQ-7059-01A-11D-1961-08		6335132	140028890	28	26060											
ADAM32	203102	hgsc.bcm.edu	37	8	39044454	39044454	+	Silent	SNP	A	A	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr8:39044454A>G	ENST00000379907.4	+	11	1069	c.942A>G	c.(940-942)gcA>gcG	p.A314A	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	314	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTCTGGAGGCATTTGCAGTTA	0.358																																																0													79	76	77					8																	39044454		1814	4076	5890	SO:0001819	synonymous_variant	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.942A>G	chr8.hg19:g.39044454A>G			Q8TC42	Silent	SNP	ENST00000379907.4	hg19	CCDS47846.1																																																																																				0.358	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		G	39044454	A	G	39044454	2	3	482	1	0	0	0	0	0	0	0	1	249	204	8	3		3	ADAM32	8	39044454	Silent	SNP	A	TCGA-BQ-7059-01A-11D-1961-08	32709322	39044454	107319568	29	26061											
OSGIN2	734	hgsc.bcm.edu	37	8	90936955	90936955	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr8:90936955G>C	ENST00000297438.2	+	6	1068	c.713G>C	c.(712-714)aGg>aCg	p.R238T	OSGIN2_ENST00000451899.2_Missense_Mutation_p.R282T	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	238					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGGAAATTAGGGGTTATCAG	0.418																																																0													75	77	76					8																	90936955		2203	4300	6503	SO:0001583	missense	734			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"chromosome 8 open reading frame 1"	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.713G>C	chr8.hg19:g.90936955G>C	ENSP00000297438:p.Arg238Thr			Missense_Mutation	SNP	ENST00000297438.2	hg19	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436313	0.25813	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.22539	1.95;1.95	5.25	5.25	0.73442	.	0.041552	0.85682	D	0.000000	T	0.16769	0.0403	L	0.43152	1.355	0.80722	D	1	B;B	0.31077	0.307;0.163	B;B	0.26416	0.069;0.068	T	0.05209	-1.0899	10	0.17832	T	0.49	-3.8246	12.2313	0.54490	0.0783:0.0:0.9217:0.0	.	282;238	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	T	238;282	ENSP00000297438:R238T;ENSP00000396445:R282T	ENSP00000297438:R238T	R	+	2	0	OSGIN2	91006130	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.061000	0.89467	2.461000	0.83175	0.555000	0.69702	AGG		0.418	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		C	90936955	G	C	90936955	3	2	482	1	0	0	0	0	1	0	0	0	11292	1000	35	4	867	4	OSGIN2	8	90936955	Missense_Mutation	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	51892501	90936955	55427067	30	26062											
GSN	2934	hgsc.bcm.edu	37	9	124089637	124089638	+	Frame_Shift_Ins	INS	-	-	C	rs376326631		TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr9:124089637_124089638insC	ENST00000373818.4	+	13	1861_1862	c.1792_1793insC	c.(1792-1794)accfs	p.T598fs	GSN_ENST00000394353.2_Frame_Shift_Ins_p.T558fs|GSN_ENST00000341272.2_Frame_Shift_Ins_p.T547fs|GSN_ENST00000436847.1_Frame_Shift_Ins_p.T558fs|GSN_ENST00000373823.3_Frame_Shift_Ins_p.T547fs|GSN_ENST00000545652.1_Frame_Shift_Ins_p.T555fs|GSN_ENST00000373807.1_Frame_Shift_Ins_p.T329fs|GSN_ENST00000449733.1_Frame_Shift_Ins_p.T547fs|GSN_ENST00000373806.1_Frame_Shift_Ins_p.T23fs|GSN_ENST00000412819.1_Frame_Shift_Ins_p.T547fs|GSN_ENST00000373808.2_Frame_Shift_Ins_p.T547fs	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	598	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGTTCTGAAAACCCCCTCAGCC	0.594																																																0																																										SO:0001589	frameshift_variant	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1797dupC	chr9.hg19:g.124089642_124089642dupC	ENSP00000362924:p.Thr598fs		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Frame_Shift_Ins	INS	ENST00000373818.4	hg19	CCDS6828.1																																																																																				0.594	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		C	124089638	-	C	124089637	7	5	482	1	0	1	1	0	0	0	0	0	6827	43	2	0	1870	0	GSN	9	124089637	Frame_Shift_Ins	INS	-	TCGA-BQ-7059-01A-11D-1961-08		124089637	17123794	31	26063											
DNAJC1	64215	hgsc.bcm.edu	37	10	22171214	22171214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr10:22171214delT	ENST00000376980.3	-	8	1265	c.975delA	c.(973-975)aaafs	p.K325fs		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	325	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TATTTACCTGTTTTTTCTGTG	0.323																																																0													142	132	135					10																	22171214		2202	4300	6502	SO:0001589	frameshift_variant	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.975delA	chr10.hg19:g.22171214delT	ENSP00000366179:p.Lys325fs		B0YIZ8|Q5VX89|Q9H6B8	Frame_Shift_Del	DEL	ENST00000376980.3	hg19	CCDS7136.1																																																																																				0.323	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		-	22171214	T	-	22171214	7	5	482	1	0	1	0	1	0	0	0	0	4630	1722	60	0	709	0	DNAJC1	10	22171214	Frame_Shift_Del	DEL	T	TCGA-BQ-7059-01A-11D-1961-08		22171214	113363533	32	26064											
PTCHD3	374308	hgsc.bcm.edu	37	10	27687672	27687673	+	In_Frame_Ins	INS	-	-	GTATAT			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr10:27687672_27687673insGTATAT	ENST00000438700.3	-	4	1971_1972	c.1854_1855insATATAC	c.(1852-1857)tatggg>tatATATACggg	p.617_618insYI		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	617					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGGAAACACCCATATATACTGC	0.361																																																0																																										SO:0001652	inframe_insertion	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1854_1855insATATAC	chr10.hg19:g.27687672_27687673insGTATAT	ENSP00000417658:p.Ile617_Tyr618insTyrIle		I3L499|Q6ZU28	In_Frame_Ins	INS	ENST00000438700.3	hg19	CCDS31173.1																																																																																				0.361	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		GTATAT	27687673	-	GTATAT	27687672	7	5	482	1	0	1	1	0	0	0	0	0	12739	594	21	0	452	0	PTCHD3	10	27687672	In_Frame_Ins	INS	-	TCGA-BQ-7059-01A-11D-1961-08	5516458	27687672	107847075	33	26065											
TMEM133	83935	hgsc.bcm.edu	37	11	100863392	100863392	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr11:100863392T>A	ENST00000303130.2	+	1	582	c.353T>A	c.(352-354)cTt>cAt	p.L118H		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	118						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CCAGTTCCACTTGGTAATAAC	0.388																																																0													142	137	138					11																	100863392		2203	4299	6502	SO:0001583	missense	83935			AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.353T>A	chr11.hg19:g.100863392T>A	ENSP00000303999:p.Leu118His			Missense_Mutation	SNP	ENST00000303130.2	hg19	CCDS8309.1	.	.	.	.	.	.	.	.	.	.	T	8.089	0.774082	0.16051	.	.	ENSG00000170647	ENST00000303130	.	.	.	2.67	-1.16	0.09678	.	.	.	.	.	T	0.22704	0.0548	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.56398	0.797	T	0.14448	-1.0472	8	0.87932	D	0	.	4.3705	0.11246	0.1931:0.0:0.4529:0.3539	.	118	Q9H2Q1	TM133_HUMAN	H	118	.	ENSP00000303999:L118H	L	+	2	0	TMEM133	100368602	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.318000	0.08050	-0.257000	0.09459	-0.329000	0.08387	CTT		0.388	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021		A	100863392	T	A	100863392	3	1	482	1	0	0	0	0	1	0	0	0	16054	1609	56	5	355	5	TMEM133	11	100863392	Missense_Mutation	SNP	T	TCGA-BQ-7059-01A-11D-1961-08		100863392	34143124	34	26066											
PHLDB1	23187	hgsc.bcm.edu	37	11	118516164	118516164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr11:118516164delA	ENST00000361417.2	+	17	3623	c.3212delA	c.(3211-3213)cacfs	p.H1071fs	PHLDB1_ENST00000356063.5_Frame_Shift_Del_p.H1024fs|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Frame_Shift_Del_p.H214fs|PHLDB1_ENST00000527898.1_Frame_Shift_Del_p.H122fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1071										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GATGCCCTTCACGGGGCAGCA	0.652																																																0													42	51	48					11																	118516164		2200	4295	6495	SO:0001589	frameshift_variant	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3212delA	chr11.hg19:g.118516164delA	ENSP00000354498:p.His1071fs		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Frame_Shift_Del	DEL	ENST00000361417.2	hg19	CCDS8401.1																																																																																				0.652	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		-	118516164	A	-	118516164	7	5	482	1	0	1	0	1	0	0	0	0	11853	159	6	0	3270	0	PHLDB1	11	118516164	Frame_Shift_Del	DEL	A	TCGA-BQ-7059-01A-11D-1961-08	17652772	118516164	16490352	35	26067	197	2									
PHLDB1	23187	hgsc.bcm.edu	37	11	118516166	118516166	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr11:118516166G>C	ENST00000361417.2	+	17	3625	c.3214G>C	c.(3214-3216)Ggg>Cgg	p.G1072R	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G1025R|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Missense_Mutation_p.G215R|PHLDB1_ENST00000527898.1_Missense_Mutation_p.G123R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1072										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGCCCTTCACGGGGCAGCACC	0.657																																																0													43	52	49					11																	118516166		2200	4295	6495	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3214G>C	chr11.hg19:g.118516166G>C	ENSP00000354498:p.Gly1072Arg		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	hg19	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268966	0.80469	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.50277	1.41;1.48;0.75;0.76	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	L	0.59436	1.845	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.997;0.999;0.995;0.991	D;D;D;D;D	0.97110	1.0;0.966;0.989;0.976;0.922	T	0.57124	-0.7865	10	0.21014	T	0.42	-37.8382	19.9036	0.96999	0.0:0.0:1.0:0.0	.	215;436;831;1025;1072	B4DK17;B0YJ65;Q5W9G0;Q86UU1-2;Q86UU1	.;.;.;.;PHLB1_HUMAN	R	1072;846;436;1025;123;215	ENSP00000354498:G1072R;ENSP00000348359:G1025R;ENSP00000435388:G123R;ENSP00000434905:G215R	ENSP00000348359:G1025R	G	+	1	0	PHLDB1	118021376	1.000000	0.71417	0.821000	0.32701	0.728000	0.41692	5.896000	0.69822	2.706000	0.92434	0.655000	0.94253	GGG		0.657	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		C	118516166	G	C	118516166	3	2	482	1	0	0	0	0	1	0	0	0	11853	1116	39	4	3272	4	PHLDB1	11	118516166	Missense_Mutation	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	2	118516166	16490350	36	26068	197	2									
GRIK4	2900	hgsc.bcm.edu	37	11	120745883	120745883	+	Silent	SNP	C	C	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr11:120745883C>T	ENST00000527524.2	+	11	1382	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	GRIK4_ENST00000438375.2_Silent_p.F365F|RP11-640N11.2_ENST00000505153.2_RNA	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	365					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ACATTGAATTCAACAGCAAAG	0.502																																																0													130	112	118					11																	120745883		2203	4299	6502	SO:0001819	synonymous_variant	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1095C>T	chr11.hg19:g.120745883C>T			A8K9L1	Silent	SNP	ENST00000527524.2	hg19	CCDS8433.1																																																																																				0.502	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		T	120745883	C	T	120745883	2	4	482	1	0	0	0	0	0	0	0	1	6778	825	29	2		2	GRIK4	11	120745883	Silent	SNP	C	TCGA-BQ-7059-01A-11D-1961-08	2229717	120745883	14260633	37	26069											
CDON	50937	hgsc.bcm.edu	37	11	125880565	125880565	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr11:125880565A>T	ENST00000392693.3	-	8	1350	c.1223T>A	c.(1222-1224)aTt>aAt	p.I408N	CDON_ENST00000263577.7_Missense_Mutation_p.I408N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	408	Ig-like C2-type 5.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGGTGCCGTAATTATAACTGG	0.428																																																0													63	61	62					11																	125880565		2201	4299	6500	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1223T>A	chr11.hg19:g.125880565A>T	ENSP00000376458:p.Ile408Asn		O14631	Missense_Mutation	SNP	ENST00000392693.3	hg19	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.259|7.259	0.604826|0.604826	0.14002|0.14002	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000263577|ENST00000534661	T;T|.	0.29142|.	1.58;1.58|.	5.01|5.01	2.7|2.7	0.31948|0.31948	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.421653|.	0.19358|.	N|.	0.116221|.	T|T	0.38612|0.38612	0.1047|0.1047	L|L	0.43923|0.43923	1.385|1.385	0.09310|0.09310	N|N	0.999999|0.999999	P;P|.	0.36392|.	0.551;0.496|.	B;B|.	0.39738|.	0.308;0.205|.	T|T	0.21965|0.21965	-1.0230|-1.0230	10|5	0.66056|.	D|.	0.02|.	-2.7576|-2.7576	8.6995|8.6995	0.34316|0.34316	0.7929:0.0:0.2071:0.0|0.7929:0.0:0.2071:0.0	.|.	408;408|.	Q4KMG0;Q4KMG0-2|.	CDON_HUMAN;.|.	N|K	408|383	ENSP00000376458:I408N;ENSP00000263577:I408N|.	ENSP00000263577:I408N|.	I|N	-|-	2|3	0|2	CDON|CDON	125385775|125385775	0.210000|0.210000	0.23517|0.23517	0.307000|0.307000	0.25127|0.25127	0.339000|0.339000	0.28857|0.28857	1.941000|1.941000	0.40233|0.40233	0.272000|0.272000	0.22027|0.22027	0.482000|0.482000	0.46254|0.46254	ATT|AAT		0.428	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		T	125880565	A	T	125880565	3	4	482	1	0	0	0	0	1	0	0	0	3172	101	4	5	2623	5	CDON	11	125880565	Missense_Mutation	SNP	A	TCGA-BQ-7059-01A-11D-1961-08	5134682	125880565	9125951	38	26070											
SLC2A14	144195	hgsc.bcm.edu	37	12	7982586	7982586	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:7982586T>A	ENST00000543909.1	-	10	1117	c.358A>T	c.(358-360)Att>Ttt	p.I120F	SLC2A14_ENST00000431042.2_Missense_Mutation_p.I97F|SLC2A14_ENST00000396589.2_Missense_Mutation_p.I120F|SLC2A14_ENST00000340749.5_Missense_Mutation_p.I97F|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000542546.1_Missense_Mutation_p.I11F|SLC2A14_ENST00000539924.1_Missense_Mutation_p.I135F|SLC2A14_ENST00000535295.1_Missense_Mutation_p.I11F			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	120					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGGTTGACAATCAGCATTGAA	0.458																																																0													62	61	61					12																	7982586		2203	4300	6503	SO:0001583	missense	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.358A>T	chr12.hg19:g.7982586T>A	ENSP00000440480:p.Ile120Phe		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	hg19	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	t	10.42	1.346517	0.24426	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266	T;T;T;T;T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	3.11	1.89	0.25635	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.451473	0.22797	N	0.055529	T	0.63094	0.2482	L	0.49455	1.56	0.09310	N	1	B;B;B;B	0.17852	0.02;0.006;0.002;0.024	B;B;B;B	0.24394	0.049;0.049;0.013;0.053	T	0.46076	-0.9217	10	0.15499	T	0.54	.	7.3787	0.26843	0.0:0.0:0.4716:0.5284	.	135;11;97;120	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	F	97;120;97;120;11;11;135;97;97;97;120;120	ENSP00000340450:I97F;ENSP00000440480:I120F;ENSP00000407287:I97F;ENSP00000379834:I120F;ENSP00000440492:I11F;ENSP00000443903:I11F;ENSP00000445929:I135F;ENSP00000440043:I97F;ENSP00000438312:I97F;ENSP00000443217:I97F;ENSP00000440044:I120F;ENSP00000437653:I120F	ENSP00000340450:I97F	I	-	1	0	SLC2A14	7873853	0.000000	0.05858	0.522000	0.27862	0.249000	0.25844	-0.458000	0.06737	0.201000	0.20466	0.377000	0.23210	ATT		0.458	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		A	7982586	T	A	7982586	3	1	482	1	0	0	0	0	1	0	0	0	14549	1435	50	5	1232	5	SLC2A14	12	7982586	Missense_Mutation	SNP	T	TCGA-BQ-7059-01A-11D-1961-08		7982586	125869309	39	26071											
H2AFJ	55766	hgsc.bcm.edu	37	12	14927683	14927684	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:14927683_14927684insT	ENST00000544848.1	+	1	414_415	c.279_280insT	c.(280-282)ttafs	p.L94fs		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	94						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E93D(1)		NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						ACGACGAGGAGTTAAACAAGCT	0.614																																																1	Substitution - Missense(1)	ovary(1)																																								SO:0001589	frameshift_variant	55766			AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"Histones / Replication-independent"	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.281dupT	chr12.hg19:g.14927685_14927685dupT	ENSP00000438553:p.Leu94fs		Q9NV63	Frame_Shift_Ins	INS	ENST00000544848.1	hg19	CCDS31752.1																																																																																				0.614	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400845.1	NM_177925		T	14927684	-	T	14927683	7	5	482	1	0	1	1	0	0	0	0	0	6928	1020	36	0	281	0	H2AFJ	12	14927683	Frame_Shift_Ins	INS	-	TCGA-BQ-7059-01A-11D-1961-08	6945097	14927683	118924212	40	26072											
ANO6	196527	hgsc.bcm.edu	37	12	45695869	45695869	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:45695869C>A	ENST00000320560.8	+	2	345	c.143C>A	c.(142-144)cCg>cAg	p.P48Q	ANO6_ENST00000441606.2_Missense_Mutation_p.P30Q|ANO6_ENST00000426898.2_Intron|ANO6_ENST00000435642.1_Missense_Mutation_p.P48Q|ANO6_ENST00000425752.2_Missense_Mutation_p.P48Q|ANO6_ENST00000423947.3_Missense_Mutation_p.P69Q	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	48					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTTCGAACCCCGGAGTTTGTG	0.328																																																0													140	138	138					12																	45695869		2203	4300	6503	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.143C>A	chr12.hg19:g.45695869C>A	ENSP00000320087:p.Pro48Gln		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	hg19	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805266	0.50315	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.70516	-0.49;-0.36;-0.49;-0.34;-0.33	4.83	4.83	0.62350	.	0.193850	0.31450	N	0.007636	T	0.81054	0.4743	L	0.61218	1.895	0.34896	D	0.745981	B;P;D;B	0.89917	0.089;0.622;1.0;0.171	B;B;D;B	0.85130	0.057;0.222;0.997;0.14	D	0.84674	0.0713	10	0.42905	T	0.14	.	14.1386	0.65303	0.0:1.0:0.0:0.0	.	30;69;48;48	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	Q	48;69;48;48;30	ENSP00000391417:P48Q;ENSP00000409126:P69Q;ENSP00000413840:P48Q;ENSP00000320087:P48Q;ENSP00000413137:P30Q	ENSP00000320087:P48Q	P	+	2	0	ANO6	43982136	0.223000	0.23663	0.737000	0.30932	0.994000	0.84299	3.434000	0.52841	2.611000	0.88343	0.643000	0.83706	CCG		0.328	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		A	45695869	C	A	45695869	3	1	482	1	0	0	0	0	1	0	0	0	701	652	23	4	169	4	ANO6	12	45695869	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08	30768186	45695869	88156026	41	26073											
SLC38A1	81539	hgsc.bcm.edu	37	12	46633478	46633478	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:46633478T>A	ENST00000398637.5	-	3	800	c.106A>T	c.(106-108)Aat>Tat	p.N36Y	SLC38A1_ENST00000439706.1_Missense_Mutation_p.N36Y|SLC38A1_ENST00000546893.1_Missense_Mutation_p.N36Y|SLC38A1_ENST00000552197.1_Missense_Mutation_p.N36Y|SLC38A1_ENST00000549049.1_Missense_Mutation_p.N36Y|SLC38A1_ENST00000549633.1_Intron	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	36					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ATCTGACCATTTTCTACTTCG	0.413																																																0													159	147	151					12																	46633478		1872	4125	5997	SO:0001583	missense	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.106A>T	chr12.hg19:g.46633478T>A	ENSP00000381634:p.Asn36Tyr		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	hg19	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844471	0.71488	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197;ENST00000550173	T;T;T;T;T	0.07688	3.33;3.33;3.33;3.33;3.17	4.93	4.93	0.64822	.	0.000000	0.56097	D	0.000026	T	0.13457	0.0326	N	0.08118	0	0.46437	D	0.999046	D;P	0.89917	1.0;0.871	D;B	0.87578	0.998;0.327	T	0.35076	-0.9803	10	0.66056	D	0.02	-24.0257	14.896	0.70644	0.0:0.0:0.0:1.0	.	36;36	F8VX04;Q9H2H9	.;S38A1_HUMAN	Y	36	ENSP00000449607:N36Y;ENSP00000398142:N36Y;ENSP00000381634:N36Y;ENSP00000447853:N36Y;ENSP00000449756:N36Y	ENSP00000381634:N36Y	N	-	1	0	SLC38A1	44919745	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.732000	0.62029	1.975000	0.57531	0.477000	0.44152	AAT		0.413	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			A	46633478	T	A	46633478	3	1	482	1	0	0	0	0	1	0	0	0	14607	1841	64	5	1417	5	SLC38A1	12	46633478	Missense_Mutation	SNP	T	TCGA-BQ-7059-01A-11D-1961-08	937609	46633478	87218417	42	26074											
TCTN1	79600	hgsc.bcm.edu	37	12	111070319	111070319	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:111070319C>T	ENST00000551590.1	+	5	823	c.667C>T	c.(667-669)Cct>Tct	p.P223S	TCTN1_ENST00000397655.3_Missense_Mutation_p.P223S|TCTN1_ENST00000397659.4_Missense_Mutation_p.P223S|AC144522.1_ENST00000408319.1_RNA|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000377654.3_Missense_Mutation_p.P45S			Q2MV58	TECT1_HUMAN	tectonic family member 1	223					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCTGAGATTTCCTTCGTCCCT	0.398																																																0													197	184	188					12																	111070319		1898	4131	6029	SO:0001583	missense	79600			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"Tectonic proteins"	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.667C>T	chr12.hg19:g.111070319C>T	ENSP00000448735:p.Pro223Ser		A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	hg19	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656513	0.88154	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000547868;ENST00000548095;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86	5.97	5.97	0.96955	Domain of unknown function DUF1619 (1);	0.000000	0.85682	D	0.000000	D	0.99099	0.9690	M	0.87180	2.865	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99716	1.1008	10	0.87932	D	0	-15.0486	18.9916	0.92794	0.0:1.0:0.0:0.0	.	223;223;223;163;167	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	S	163;223;223;45;45;223;45;223;167	ENSP00000448735:P223S;ENSP00000380775:P223S;ENSP00000366882:P45S;ENSP00000380779:P223S	ENSP00000366882:P45S	P	+	1	0	TCTN1	109554702	1.000000	0.71417	0.767000	0.31495	0.782000	0.44232	4.913000	0.63341	2.835000	0.97688	0.591000	0.81541	CCT		0.398	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		T	111070319	C	T	111070319	3	4	482	1	0	0	0	0	1	0	0	0	15727	855	30	2	785	2	TCTN1	12	111070319	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08	64436841	111070319	22781576	43	26075											
ATXN2	6311	hgsc.bcm.edu	37	12	111908459	111908459	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:111908459G>C	ENST00000377617.3	-	19	3247	c.3086C>G	c.(3085-3087)gCc>gGc	p.A1029G	ATXN2_ENST00000608853.1_Missense_Mutation_p.A869G|ATXN2_ENST00000389153.4_Missense_Mutation_p.A766G|ATXN2_ENST00000542287.2_Missense_Mutation_p.A764G|ATXN2_ENST00000535949.1_Missense_Mutation_p.A740G|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1029	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGTGGGGTGGCTGCAATCGG	0.532																																																0													139	128	132					12																	111908459		2203	4300	6503	SO:0001583	missense	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3086C>G	chr12.hg19:g.111908459G>C	ENSP00000366843:p.Ala1029Gly		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	hg19	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351916	0.95830	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949	T	0.77620	-1.11	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.85444	0.5698	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.997;0.993;0.999;0.998	D;D;D;D;D	0.85130	0.994;0.985;0.978;0.997;0.994	T	0.81564	-0.0875	10	0.27082	T	0.32	-9.4636	19.888	0.96917	0.0:0.0:1.0:0.0	.	48;1029;740;764;766	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	G	84;766;1029;48;764;740	ENSP00000366843:A1029G	ENSP00000366843:A1029G	A	-	2	0	ATXN2	110392842	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.720000	0.93068	0.591000	0.81541	GCC		0.532	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		C	111908459	G	C	111908459	3	2	482	1	0	0	0	0	1	0	0	0	1211	1203	42	4	883	4	ATXN2	12	111908459	Missense_Mutation	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	838140	111908459	21943436	44	26076											
SBNO1	55206	hgsc.bcm.edu	37	12	123806180	123806180	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:123806180T>C	ENST00000602398.1	-	17	2352	c.2225A>G	c.(2224-2226)aAt>aGt	p.N742S	SBNO1_ENST00000267176.4_Missense_Mutation_p.N741S|SBNO1_ENST00000602750.1_Missense_Mutation_p.N741S|SBNO1_ENST00000420886.2_Missense_Mutation_p.N742S			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	742					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)		ACTTTCTTCATTATCAGAGGC	0.403																																																0													193	173	180					12																	123806180		2203	4300	6503	SO:0001583	missense	55206			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.2225A>G	chr12.hg19:g.123806180T>C	ENSP00000473665:p.Asn742Ser		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	hg19	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	T	3.761	-0.049616	0.07407	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.28666	1.6;1.6	5.33	4.15	0.48705	.	0.449012	0.24209	N	0.040557	T	0.09949	0.0244	N	0.00926	-1.1	0.35755	D	0.819721	B;B;B	0.19200	0.0;0.001;0.034	B;B;B	0.21917	0.001;0.001;0.037	T	0.20538	-1.0272	10	0.06365	T	0.9	-14.1214	12.2297	0.54480	0.0:0.0:0.1426:0.8574	.	742;741;740	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	S	742;741	ENSP00000387361:N742S;ENSP00000267176:N741S	ENSP00000267176:N741S	N	-	2	0	SBNO1	122372133	0.996000	0.38824	0.986000	0.45419	0.996000	0.88848	1.100000	0.31025	0.819000	0.34492	0.460000	0.39030	AAT		0.403	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		C	123806180	T	C	123806180	3	2	482	1	0	0	0	0	1	0	0	0	13868	1493	52	3	2020	3	SBNO1	12	123806180	Missense_Mutation	SNP	T	TCGA-BQ-7059-01A-11D-1961-08	11897721	123806180	10045715	45	26077											
MTHFD1	4522	hgsc.bcm.edu	37	14	64915025	64915025	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr14:64915025A>C	ENST00000545908.1	+	23	2666	c.2437A>C	c.(2437-2439)Aat>Cat	p.N813H	MTHFD1_ENST00000216605.8_Missense_Mutation_p.N757H|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	757	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	AGTGGCCGTGAATGCATTCAA	0.383																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											0													79	78	78					14																	64915025		2203	4300	6503	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2437A>C	chr14.hg19:g.64915025A>C	ENSP00000438588:p.Asn813His		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	hg19		.	.	.	.	.	.	.	.	.	.	A	21.0	4.077868	0.76528	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.47177	0.85;0.85;0.85	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.82898	0.5137	H	0.99573	4.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90598	0.4542	10	0.87932	D	0	-21.8056	16.1926	0.82004	1.0:0.0:0.0:0.0	.	813;757	F5H2F4;G3V2B8	.;.	H	813;757;813	ENSP00000438588:N813H;ENSP00000450560:N757H;ENSP00000216605:N813H	ENSP00000216605:N757H	N	+	1	0	MTHFD1	63984778	1.000000	0.71417	0.914000	0.36105	0.594000	0.36715	9.339000	0.96797	2.219000	0.72066	0.533000	0.62120	AAT		0.383	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			C	64915025	A	C	64915025	3	2	482	1	0	0	0	0	1	0	0	0	9929	246	9	5	2359	5	MTHFD1	14	64915025	Missense_Mutation	SNP	A	TCGA-BQ-7059-01A-11D-1961-08		64915025	42434515	46	26078											
ATG2B	55102	hgsc.bcm.edu	37	14	96784101	96784101	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr14:96784101C>G	ENST00000359933.4	-	19	3864	c.2971G>C	c.(2971-2973)Gcc>Ccc	p.A991P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	991					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGCTGACTGGCTACTGAAAGC	0.343																																																0													101	96	98					14																	96784101		1833	4104	5937	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2971G>C	chr14.hg19:g.96784101C>G	ENSP00000353010:p.Ala991Pro		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998612	0.74818	.	.	ENSG00000066739	ENST00000359933	T	0.39997	1.05	5.54	5.54	0.83059	.	0.164574	0.39759	U	0.001274	T	0.63034	0.2477	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54576	-0.8273	10	0.25751	T	0.34	.	19.8585	0.96775	0.0:1.0:0.0:0.0	.	991	Q96BY7	ATG2B_HUMAN	P	991	ENSP00000353010:A991P	ENSP00000353010:A991P	A	-	1	0	ATG2B	95853854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.760000	0.94817	0.655000	0.94253	GCC		0.343	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		G	96784101	C	G	96784101	3	3	482	1	0	0	0	0	1	0	0	0	1094	797	28	4	3361	4	ATG2B	14	96784101	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08	31869076	96784101	10565439	47	26079											
TMED3	23423	hgsc.bcm.edu	37	15	79606106	79606106	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr15:79606106C>G	ENST00000299705.5	+	2	364	c.176C>G	c.(175-177)aCt>aGt	p.T59S	TMED3_ENST00000424155.2_Missense_Mutation_p.T59S|TMED3_ENST00000536821.1_Missense_Mutation_p.T59S	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	59	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						CAGGTCATCACTGGAGGCCAC	0.478																																																0													94	82	86					15																	79606106		2196	4293	6489	SO:0001583	missense	23423			BC022232	CCDS10310.1, CCDS73768.1	15q24-q25	2011-02-09	2005-08-26	2005-01-07	ENSG00000166557	ENSG00000166557			28889	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 22", "transmembrane emp24 domain containing 3"	C15orf22		12975309	Standard	XM_005254263		Approved	p24B	uc002beu.3	Q9Y3Q3	OTTHUMG00000144170	ENST00000299705.5:c.176C>G	chr15.hg19:g.79606106C>G	ENSP00000299705:p.Thr59Ser		A8K069|B4DN05|Q2T9F8	Missense_Mutation	SNP	ENST00000299705.5	hg19	CCDS10310.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220785	0.58560	.	.	ENSG00000166557	ENST00000299705;ENST00000424155;ENST00000536821;ENST00000543455	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.88	4.88	0.63580	GOLD (3);	0.258714	0.39407	N	0.001373	T	0.12220	0.0297	L	0.28694	0.88	0.47698	D	0.999498	B;B	0.29085	0.232;0.004	B;B	0.35607	0.206;0.01	T	0.06954	-1.0798	10	0.08599	T	0.76	-25.4826	15.9067	0.79436	0.0:1.0:0.0:0.0	.	59;59	B4DN05;Q9Y3Q3	.;TMED3_HUMAN	S	59	ENSP00000299705:T59S;ENSP00000414983:T59S;ENSP00000446062:T59S;ENSP00000440228:T59S	ENSP00000299705:T59S	T	+	2	0	TMED3	77393161	0.995000	0.38212	0.976000	0.42696	0.985000	0.73830	3.616000	0.54174	2.680000	0.91292	0.655000	0.94253	ACT		0.478	TMED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291369.1	NM_007364		G	79606106	C	G	79606106	3	3	482	1	0	0	0	0	1	0	0	0	16010	565	20	4	182	4	TMED3	15	79606106	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08		79606106	22925286	48	26080											
SRRM2	23524	hgsc.bcm.edu	37	16	2808492	2808492	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr16:2808492T>A	ENST00000301740.8	+	5	1086	c.537T>A	c.(535-537)agT>agA	p.S179R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	179	Ser-rich.			SS -> NN (in Ref. 2; AAF21439). {ECO:0000305}.	mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTCTAGCAGTTCTCGCTCAC	0.423																																																0													161	166	165					16																	2808492		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.537T>A	chr16.hg19:g.2808492T>A	ENSP00000301740:p.Ser179Arg		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195477	0.58126	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.25250	1.81	5.15	2.81	0.32909	.	0.000000	0.64402	D	0.000006	T	0.29749	0.0743	N	0.19112	0.55	0.32407	N	0.551109	D	0.71674	0.998	D	0.76071	0.987	T	0.32955	-0.9887	10	0.87932	D	0	-4.3082	6.3143	0.21182	0.0:0.2621:0.0:0.7379	.	179	Q9UQ35	SRRM2_HUMAN	R	179;179;83;144	ENSP00000301740:S179R	ENSP00000301740:S179R	S	+	3	2	SRRM2	2748493	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.382000	0.20635	0.797000	0.33971	0.528000	0.53228	AGT		0.423	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2808492	T	A	2808492	3	1	482	1	0	0	0	0	1	0	0	0	15174	1722	60	5	551	5	SRRM2	16	2808492	Missense_Mutation	SNP	T	TCGA-BQ-7059-01A-11D-1961-08		2808492	87546261	49	26081											
ZNF23	7571	hgsc.bcm.edu	37	16	71483580	71483580	+	Silent	SNP	G	G	T	rs376275643		TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr16:71483580G>T	ENST00000393539.2	-	6	1161	c.348C>A	c.(346-348)ccC>ccA	p.P116P	ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.P58P|ZNF23_ENST00000417828.1_Silent_p.P116P|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Silent_p.P116P|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Silent_p.P58P	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P116P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		ACTCCTCCACGGGGCTTGTCT	0.448																																																1	Substitution - coding silent(1)	lung(1)											167	173	171					16																	71483580		2198	4300	6498	SO:0001819	synonymous_variant	7571			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.348C>A	chr16.hg19:g.71483580G>T			Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	ENST00000393539.2	hg19	CCDS10900.1																																																																																				0.448	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		T	71483580	G	T	71483580	2	4	482	1	0	0	0	0	0	0	0	1	17788	1103	39	4		4	ZNF23	16	71483580	Silent	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	68675088	71483580	18871173	50	26082											
DHX38	9785	hgsc.bcm.edu	37	16	72138441	72138441	+	Silent	SNP	G	G	T	rs199994362	byFrequency	TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr16:72138441G>T	ENST00000268482.3	+	15	2576	c.2067G>T	c.(2065-2067)gcG>gcT	p.A689A	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	689	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.A689A(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CGATGGATGCGGAGAAGTTTG	0.572																																					Melanoma(97;711 1442 7855 13832 28836)											1	Substitution - coding silent(1)	large_intestine(1)											242	177	199					16																	72138441		2198	4300	6498	SO:0001819	synonymous_variant	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2067G>T	chr16.hg19:g.72138441G>T			B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	hg19	CCDS10907.1																																																																																				0.572	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		T	72138441	G	T	72138441	2	4	482	1	0	0	0	0	0	0	0	1	4513	1103	39	4		4	DHX38	16	72138441	Silent	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	654861	72138441	18216312	51	26083											
WSCD1	23302	hgsc.bcm.edu	37	17	6012935	6012935	+	Silent	SNP	C	C	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr17:6012935C>G	ENST00000574946.1	+	6	1248	c.858C>G	c.(856-858)ccC>ccG	p.P286P	WSCD1_ENST00000539421.1_Silent_p.P286P|WSCD1_ENST00000574232.1_Silent_p.P286P|WSCD1_ENST00000317744.5_Silent_p.P286P|WSCD1_ENST00000573634.1_Silent_p.P170P			Q658N2	WSCD1_HUMAN	WSC domain containing 1	286	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.P286P(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AGGAGTTCCCCTTGGCCATTC	0.557																																																1	Substitution - coding silent(1)	endometrium(1)											260	245	250					17																	6012935		2203	4300	6503	SO:0001819	synonymous_variant	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.858C>G	chr17.hg19:g.6012935C>G			A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	hg19	CCDS32538.1																																																																																				0.557	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		G	6012935	C	G	6012935	2	3	482	1	0	0	0	0	0	0	0	1	17411	668	24	4		4	WSCD1	17	6012935	Silent	SNP	C	TCGA-BQ-7059-01A-11D-1961-08		6012935	75182275	52	26084											
ZNF830	91603	hgsc.bcm.edu	37	17	33289281	33289281	+	Silent	SNP	T	T	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr17:33289281T>C	ENST00000361952.3	+	1	733	c.696T>C	c.(694-696)caT>caC	p.H232H	CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000436961.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	232					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				CAGAAATACATGAAAAAGTGG	0.448																																																0													49	48	48					17																	33289281		2203	4300	6503	SO:0001819	synonymous_variant	91603			AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"orphan maintenance of genome 1"		"coiled-coil domain containing 16"	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.696T>C	chr17.hg19:g.33289281T>C			Q96F60|Q96GZ5|Q9BU38	Silent	SNP	ENST00000361952.3	hg19	CCDS32618.1																																																																																				0.448	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		C	33289281	T	C	33289281	2	2	482	1	0	0	0	0	0	0	0	1	18189	1461	51	3		3	ZNF830	17	33289281	Silent	SNP	T	TCGA-BQ-7059-01A-11D-1961-08	27276346	33289281	47905929	53	26085											
NR1D1	9572	hgsc.bcm.edu	37	17	38253601	38253601	+	Silent	SNP	A	A	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr17:38253601A>G	ENST00000246672.3	-	2	717	c.87T>C	c.(85-87)ccT>ccC	p.P29P		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	29	Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					AGAGGGATTCAGGGCTGGTGC	0.592																																																0													57	62	60					17																	38253601		2203	4300	6503	SO:0001819	synonymous_variant	9572			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.87T>C	chr17.hg19:g.38253601A>G			Q0P5Z4|Q15304	Silent	SNP	ENST00000246672.3	hg19	CCDS11361.1																																																																																				0.592	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			G	38253601	A	G	38253601	2	3	482	1	0	0	0	0	0	0	0	1	10617	175	7	3		3	NR1D1	17	38253601	Silent	SNP	A	TCGA-BQ-7059-01A-11D-1961-08	4964320	38253601	42941609	54	26086											
NAGS	162417	hgsc.bcm.edu	37	17	42083544	42083544	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr17:42083544T>C	ENST00000293404.3	+	3	972	c.854T>C	c.(853-855)cTg>cCg	p.L285P	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	285	Amino-acid kinase domain (AAK).				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCCAAGGCGCTGCGGCCCACC	0.662																																																0													29	29	29					17																	42083544		2200	4297	6497	SO:0001583	missense	162417			AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.854T>C	chr17.hg19:g.42083544T>C	ENSP00000293404:p.Leu285Pro		B2RAZ9|Q8IWR4	Missense_Mutation	SNP	ENST00000293404.3	hg19	CCDS11473.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478496	0.84747	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.94576	-3.46	4.49	4.49	0.54785	Aspartate/glutamate/uridylate kinase (2);	0.000000	0.64402	D	0.000014	D	0.96815	0.8960	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.97143	0.9826	10	0.87932	D	0	-18.0769	11.7799	0.52008	0.0:0.0:0.0:1.0	.	119;285	Q2NKP2;Q8N159	.;NAGS_HUMAN	P	119;285	ENSP00000293404:L285P	ENSP00000293404:L285P	L	+	2	0	NAGS	39439070	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.544000	0.73878	1.883000	0.54544	0.374000	0.22700	CTG		0.662	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		C	42083544	T	C	42083544	3	2	482	1	0	0	0	0	1	0	0	0	10147	1580	55	3	864	3	NAGS	17	42083544	Missense_Mutation	SNP	T	TCGA-BQ-7059-01A-11D-1961-08	3829943	42083544	39111666	55	26087											
TMEM146	257062	hgsc.bcm.edu	37	19	5744442	5744442	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:5744442A>G	ENST00000381624.3	+	8	639	c.578A>G	c.(577-579)gAa>gGa	p.E193G	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	193					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCATAGGCAGAAATCATTGGG	0.368																																																0													177	156	162					19																	5744442		1821	4093	5914	SO:0001583	missense	257062			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.578A>G	chr19.hg19:g.5744442A>G	ENSP00000371037:p.Glu193Gly		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	hg19	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	A	11.28	1.590905	0.28357	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.16597	2.33	2.61	-0.961	0.10337	.	1.018470	0.07916	U	0.975045	T	0.14227	0.0344	L	0.60455	1.87	0.09310	N	0.999999	P	0.46512	0.879	B	0.40009	0.316	T	0.20974	-1.0259	10	0.66056	D	0.02	.	0.3749	0.00385	0.3898:0.2527:0.1457:0.2118	.	193	Q86XM0	TM146_HUMAN	G	119;193	ENSP00000371037:E193G	ENSP00000371037:E193G	E	+	2	0	TMEM146	5695442	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	0.059000	0.14322	-0.283000	0.09115	0.260000	0.18958	GAA		0.368	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		G	5744442	A	G	5744442	3	3	482	1	0	0	0	0	1	0	0	0	16065	246	9	3	608	3	TMEM146	19	5744442	Missense_Mutation	SNP	A	TCGA-BQ-7059-01A-11D-1961-08		5744442	53384541	56	26088											
C3	718	hgsc.bcm.edu	37	19	6711075	6711075	+	Missense_Mutation	SNP	C	C	A	rs148820222		TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:6711075C>A	ENST00000245907.6	-	12	1494	c.1402G>T	c.(1402-1404)Ggg>Tgg	p.G468W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	468					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGGGTCTCCCCGGGTCTGAGC	0.597																																																0													232	206	215					19																	6711075		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1402G>T	chr19.hg19:g.6711075C>A	ENSP00000245907:p.Gly468Trp		A7E236	Missense_Mutation	SNP	ENST00000245907.6	hg19	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399751	0.42512	.	.	ENSG00000125730	ENST00000245907	T	0.78707	-1.2	5.03	5.03	0.67393	Alpha-2-macroglobulin, N-terminal 2 (1);	0.273635	0.41194	D	0.000922	D	0.91126	0.7206	M	0.94021	3.485	0.41715	D	0.989475	D	0.89917	1.0	D	0.91635	0.999	D	0.93675	0.6993	10	0.87932	D	0	.	17.1311	0.86726	0.0:1.0:0.0:0.0	.	468	P01024	CO3_HUMAN	W	468	ENSP00000245907:G468W	ENSP00000245907:G468W	G	-	1	0	C3	6662075	0.672000	0.27530	0.279000	0.24732	0.004000	0.04260	3.025000	0.49681	2.344000	0.79699	0.557000	0.71058	GGG		0.597	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		A	6711075	C	A	6711075	3	1	482	1	0	0	0	0	1	0	0	0	2206	652	23	4	3709	4	C3	19	6711075	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08	966633	6711075	52417908	57	26089											
QTRT1	81890	hgsc.bcm.edu	37	19	10823458	10823458	+	Missense_Mutation	SNP	A	A	G	rs568561273		TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:10823458A>G	ENST00000250237.5	+	8	896	c.886A>G	c.(886-888)Act>Gct	p.T296A		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	296					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CCTGGTGCCCACTGGGAACCT	0.622																																																0													118	111	113					19																	10823458		2203	4300	6503	SO:0001583	missense	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.886A>G	chr19.hg19:g.10823458A>G	ENSP00000250237:p.Thr296Ala		B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	hg19	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	A	0.571	-0.841326	0.02692	.	.	ENSG00000213339	ENST00000250237	.	.	.	3.87	3.87	0.44632	.	0.163748	0.42821	U	0.000652	T	0.28067	0.0692	L	0.43923	1.385	0.26123	N	0.980526	B	0.14805	0.011	B	0.17433	0.018	T	0.21143	-1.0254	9	0.07990	T	0.79	-8.686	6.4838	0.22077	0.7837:0.0:0.0:0.2163	.	296	Q9BXR0	TGT_HUMAN	A	296	.	ENSP00000250237:T296A	T	+	1	0	QTRT1	10684458	1.000000	0.71417	0.998000	0.56505	0.601000	0.36947	5.570000	0.67398	1.631000	0.50456	0.379000	0.24179	ACT		0.622	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		G	10823458	A	G	10823458	3	3	482	1	0	0	0	0	1	0	0	0	12891	159	6	3	916	3	QTRT1	19	10823458	Missense_Mutation	SNP	A	TCGA-BQ-7059-01A-11D-1961-08	4112383	10823458	48305525	58	26090											
NOTCH3	4854	hgsc.bcm.edu	37	19	15289675	15289675	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:15289675C>G	ENST00000263388.2	-	23	3871	c.3796G>C	c.(3796-3798)Ggt>Cgt	p.G1266R		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1266	EGF-like 32. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCCAGGACCCGGGCTAGGA	0.652																																																0													36	32	33					19																	15289675		2198	4296	6494	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3796G>C	chr19.hg19:g.15289675C>G	ENSP00000263388:p.Gly1266Arg		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	hg19	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333583	0.41297	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.92099	-2.97	3.54	2.41	0.29592	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94016	0.8083	M	0.72894	2.215	0.09310	N	1	P;D	0.89917	0.566;1.0	B;D	0.87578	0.131;0.998	D	0.84646	0.0698	9	0.54805	T	0.06	.	4.1418	0.10196	0.0:0.7058:0.0:0.2942	.	1217;1266	Q59FL3;Q9UM47	.;NOTC3_HUMAN	R	1266;1216	ENSP00000263388:G1266R	ENSP00000263388:G1266R	G	-	1	0	NOTCH3	15150675	0.011000	0.17503	0.110000	0.21437	0.729000	0.41735	0.970000	0.29383	1.813000	0.52934	0.561000	0.74099	GGT		0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		G	15289675	C	G	15289675	3	3	482	1	0	0	0	0	1	0	0	0	10552	623	22	4	3213	4	NOTCH3	19	15289675	Missense_Mutation	SNP	C	TCGA-BQ-7059-01A-11D-1961-08	4466217	15289675	43839308	59	26091											
GPR32	2854	hgsc.bcm.edu	37	19	51273914	51273914	+	Silent	SNP	G	G	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:51273914G>C	ENST00000270590.4	+	1	194	c.57G>C	c.(55-57)ctG>ctC	p.L19L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	19					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGGGGTCCTGACACGTGATC	0.512																																					Esophageal Squamous(113;152 1581 5732 15840 44398)											0													80	65	70					19																	51273914		2203	4300	6503	SO:0001819	synonymous_variant	2854			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.57G>C	chr19.hg19:g.51273914G>C			Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	hg19	CCDS12801.1																																																																																				0.512	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			C	51273914	G	C	51273914	2	2	482	1	0	0	0	0	0	0	0	1	6690	1277	45	4		4	GPR32	19	51273914	Silent	SNP	G	TCGA-BQ-7059-01A-11D-1961-08	35984239	51273914	7855069	60	26092											
ZNF416	55659	hgsc.bcm.edu	37	19	58084258	58084258	+	Silent	SNP	A	A	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:58084258A>G	ENST00000196489.3	-	4	1236	c.1014T>C	c.(1012-1014)agT>agC	p.S338S		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TAAGGTTGGAACTTTGGCTAA	0.428																																																0													96	93	94					19																	58084258		2203	4300	6503	SO:0001819	synonymous_variant	55659			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1014T>C	chr19.hg19:g.58084258A>G			Q9NWW8	Silent	SNP	ENST00000196489.3	hg19	CCDS12954.1																																																																																				0.428	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		G	58084258	A	G	58084258	2	3	482	1	0	0	0	0	0	0	0	1	17898	40	2	3		3	ZNF416	19	58084258	Silent	SNP	A	TCGA-BQ-7059-01A-11D-1961-08	6810344	58084258	1044725	61	26093											
CSE1L	1434	hgsc.bcm.edu	37	20	47691344	47691344	+	Silent	SNP	A	A	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr20:47691344A>G	ENST00000262982.2	+	11	1212	c.1089A>G	c.(1087-1089)gaA>gaG	p.E363E	CSE1L_ENST00000542325.1_Silent_p.E146E|CSE1L_ENST00000396192.3_Silent_p.E307E	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	363					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AAGCATTTGAAGATAATTCTG	0.383																																																0													172	158	163					20																	47691344		2203	4300	6503	SO:0001819	synonymous_variant	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1089A>G	chr20.hg19:g.47691344A>G			A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	hg19	CCDS13412.1																																																																																				0.383	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		G	47691344	A	G	47691344	2	3	482	1	0	0	0	0	0	0	0	1	3932	69	3	3		3	CSE1L	20	47691344	Silent	SNP	A	TCGA-BQ-7059-01A-11D-1961-08		47691344	15334176	62	26094											
TXN2	25828	hgsc.bcm.edu	37	22	36876727	36876727	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr22:36876727T>C	ENST00000216185.2	-	2	624	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_De_novo_Start_OutOfFrame|TXN2_ENST00000403313.1_Missense_Mutation_p.Y53C			Q99757	THIOM_HUMAN	thioredoxin 2	53					cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						CCTCGTGGTGTATATTGTCCG	0.542																																																0													162	137	145					22																	36876727		2203	4300	6503	SO:0001583	missense	25828			U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.158A>G	chr22.hg19:g.36876727T>C	ENSP00000216185:p.Tyr53Cys		Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	ENST00000216185.2	hg19	CCDS13928.1	.	.	.	.	.	.	.	.	.	.	t	4.360	0.066374	0.08388	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.11495	2.77;2.77	5.59	-4.59	0.03400	Thioredoxin-like fold (1);	1.054490	0.07330	N	0.879042	T	0.07413	0.0187	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44559	-0.9320	10	0.38643	T	0.18	.	0.2548	0.00210	0.3331:0.1924:0.2444:0.2301	.	53	Q99757	THIOM_HUMAN	C	53	ENSP00000216185:Y53C;ENSP00000385393:Y53C	ENSP00000216185:Y53C	Y	-	2	0	TXN2	35206673	0.001000	0.12720	0.004000	0.12327	0.028000	0.11728	-0.205000	0.09411	-0.499000	0.06623	-0.459000	0.05422	TAC		0.542	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473		C	36876727	T	C	36876727	3	2	482	1	0	0	0	0	1	0	0	0	16796	1638	57	3	354	3	TXN2	22	36876727	Missense_Mutation	SNP	T	TCGA-BQ-7059-01A-11D-1961-08		36876727	14427839	63	26095											
MUL1	79594	hgsc.bcm.edu	37	1	20827614	20827614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr1:20827614delG	ENST00000264198.3	-	4	764	c.628delC	c.(628-630)ctgfs	p.L210fs		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	210					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GGCGGCTGCAGGCGGACAGAG	0.607																																																0													87	84	85					1																	20827614		2203	4300	6503	SO:0001589	frameshift_variant	79594			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.628delC	chr1.hg19:g.20827614delG	ENSP00000264198:p.Leu210fs		B5M497|Q7Z431|Q9H9B5	Frame_Shift_Del	DEL	ENST00000264198.3	hg19	CCDS208.1																																																																																				0.607	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		-	20827614	G	-	20827614	7	5	483	1	0	1	0	1	0	0	0	0	9986	991	35	0	434	0	MUL1	1	20827614	Frame_Shift_Del	DEL	G	TCGA-BQ-7060-01A-11D-1961-08		20827614	228423007	1	26096											
EPHA8	2046	hgsc.bcm.edu	37	1	22903099	22903099	+	Silent	SNP	G	G	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr1:22903099G>T	ENST00000166244.3	+	3	621	c.549G>T	c.(547-549)ctG>ctT	p.L183L	EPHA8_ENST00000374644.4_Silent_p.L183L|EPHA8_ENST00000538803.1_Silent_p.L183L	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	183	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCTTCTACCTGGCCTTCCAGG	0.617																																																0													73	66	69					1																	22903099		2203	4300	6503	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.549G>T	chr1.hg19:g.22903099G>T			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	hg19	CCDS225.1																																																																																				0.617	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		T	22903099	G	T	22903099	2	4	483	1	0	0	0	0	0	0	0	1	5175	1335	47	4		4	EPHA8	1	22903099	Silent	SNP	G	TCGA-BQ-7060-01A-11D-1961-08	2075485	22903099	226347522	2	26097											
ZNF619	285267	hgsc.bcm.edu	37	3	40529349	40529349	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:40529349C>T	ENST00000314686.5	+	6	1705	c.1300C>T	c.(1300-1302)Cac>Tac	p.H434Y	ZNF619_ENST00000522736.1_Missense_Mutation_p.H441Y|ZNF619_ENST00000432264.2_Missense_Mutation_p.H450Y|ZNF619_ENST00000456778.1_Missense_Mutation_p.H406Y|ZNF619_ENST00000521353.1_Missense_Mutation_p.H490Y|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Missense_Mutation_p.H450Y|ZNF619_ENST00000447116.2_Missense_Mutation_p.H490Y			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCAGCGAGTTCACACTGGGGA	0.463																																																0													92	95	94					3																	40529349		2203	4300	6503	SO:0001583	missense	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1300C>T	chr3.hg19:g.40529349C>T	ENSP00000322529:p.His434Tyr		B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	hg19		.	.	.	.	.	.	.	.	.	.	C	16.06	3.017099	0.54576	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000442066;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	2.44	2.44	0.29823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.82010	0.4944	M	0.87269	2.87	0.30841	N	0.735643	D;D;D;D;D;D	0.89917	0.999;0.998;0.998;1.0;0.998;0.999	D;D;D;D;D;D	0.91635	0.996;0.982;0.976;0.999;0.976;0.996	T	0.79495	-0.1780	9	0.87932	D	0	.	10.5917	0.45314	0.0:1.0:0.0:0.0	.	406;450;490;392;441;434	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	Y	434;490;450;406;71;441;490;450	ENSP00000322529:H434Y;ENSP00000411132:H490Y;ENSP00000398024:H450Y;ENSP00000397232:H406Y;ENSP00000428004:H441Y;ENSP00000430705:H490Y;ENSP00000388710:H450Y	ENSP00000322529:H434Y	H	+	1	0	ZNF619	40504353	0.998000	0.40836	0.972000	0.41901	0.869000	0.49853	3.961000	0.56759	1.376000	0.46267	0.563000	0.77884	CAC		0.463	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		T	40529349	C	T	40529349	3	4	483	1	0	0	0	0	1	0	0	0	18048	826	29	2	1508	2	ZNF619	3	40529349	Missense_Mutation	SNP	C	TCGA-BQ-7060-01A-11D-1961-08		40529349	157493081	3	26098											
RPL29	6159	hgsc.bcm.edu	37	3	52029445	52029445	+	Silent	SNP	G	G	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:52029445G>A	ENST00000466397.1	-	2	173	c.33C>T	c.(31-33)aaC>aaT	p.N11N	RPL29_ENST00000475248.1_Silent_p.N11N|RPL29_ENST00000481629.1_Silent_p.N11N|RPL29_ENST00000294189.6_Silent_p.N11N|RPL29_ENST00000495383.1_Silent_p.N11N|RPL29_ENST00000479017.1_Silent_p.N11N			P47914	RL29_HUMAN	ribosomal protein L29	11					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTTACACTGGTTGTGTGTGG	0.567																																																0													130	106	114					3																	52029445		2203	4300	6503	SO:0001819	synonymous_variant	6159			U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"L ribosomal proteins"	10331	protein-coding gene	gene with protein product	"60S ribosomal protein L29", "heparin/heparan sulfate-interacting protein", "HP/HS-interacting protein", "heparin/heparan sulfate-binding protein", "cell surface heparin-binding protein HIP"	601832	"ribosomal protein L29 pseudogene 10"	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.33C>T	chr3.hg19:g.52029445G>A			A8K0H3|B2R4M8|Q6IPY3	Silent	SNP	ENST00000466397.1	hg19	CCDS2845.1																																																																																				0.567	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349680.2	NM_000992		A	52029445	G	A	52029445	2	1	483	1	0	0	0	0	0	0	0	1	13584	1252	44	2		2	RPL29	3	52029445	Silent	SNP	G	TCGA-BQ-7060-01A-11D-1961-08	11500096	52029445	145992985	4	26099											
POLQ	10721	hgsc.bcm.edu	37	3	121168266	121168266	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:121168266T>C	ENST00000264233.5	-	26	7288	c.7160A>G	c.(7159-7161)tAt>tGt	p.Y2387C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2387					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AATGATCCCATAGCAAATCTG	0.358								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											0													166	164	164					3																	121168266		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7160A>G	chr3.hg19:g.121168266T>C	ENSP00000264233:p.Tyr2387Cys		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	hg19	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113078	0.77210	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.98221	-4.8	5.26	5.26	0.73747	DNA-directed DNA polymerase, family A, palm domain (2);DNA-directed DNA polymerase, family A, conserved site (1);	0.061290	0.64402	D	0.000002	D	0.99184	0.9717	M	0.93854	3.465	0.45502	D	0.99846	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99211	1.0876	10	0.87932	D	0	.	14.8334	0.70164	0.0:0.0:0.0:1.0	.	2387;1559	O75417;O75417-2	DPOLQ_HUMAN;.	C	2010;2387;2523	ENSP00000264233:Y2387C	ENSP00000264233:Y2387C	Y	-	2	0	POLQ	122650956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.345000	0.79337	1.968000	0.57251	0.533000	0.62120	TAT		0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		C	121168266	T	C	121168266	3	2	483	1	0	0	0	0	1	0	0	0	12210	1406	49	3	632	3	POLQ	3	121168266	Missense_Mutation	SNP	T	TCGA-BQ-7060-01A-11D-1961-08	69138821	121168266	76854164	5	26100											
KPNA4	3840	hgsc.bcm.edu	37	3	160249255	160249255	+	Silent	SNP	A	A	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:160249255A>G	ENST00000334256.4	-	6	683	c.378T>C	c.(376-378)gaT>gaC	p.D126D		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	126					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTCACTTGTCATCTCTTTCAA	0.303																																																0													78	85	83					3																	160249255		2202	4296	6498	SO:0001819	synonymous_variant	3840			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"Importins", "Armadillo repeat containing"	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.378T>C	chr3.hg19:g.160249255A>G			A8K4S6|D3DNM2|O00190	Silent	SNP	ENST00000334256.4	hg19	CCDS3191.1																																																																																				0.303	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		G	160249255	A	G	160249255	2	3	483	1	0	0	0	0	0	0	0	1	8434	214	8	3		3	KPNA4	3	160249255	Silent	SNP	A	TCGA-BQ-7060-01A-11D-1961-08	39080989	160249255	37773175	6	26101											
DGKG	1608	hgsc.bcm.edu	37	3	186006591	186006591	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:186006591G>A	ENST00000265022.3	-	6	991	c.452C>T	c.(451-453)tCt>tTt	p.S151F	DGKG_ENST00000344484.4_Missense_Mutation_p.S151F|DGKG_ENST00000544847.1_Missense_Mutation_p.S151F|DGKG_ENST00000382164.4_Missense_Mutation_p.S151F	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	151	Poly-Ser.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGAGCTTGAAGACCGAGGGAC	0.552																																																0													138	151	147					3																	186006591		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.452C>T	chr3.hg19:g.186006591G>A	ENSP00000265022:p.Ser151Phe		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	hg19	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439692	0.43326	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.74	1.92	0.25849	.	2.306020	0.01541	N	0.019244	T	0.42765	0.1217	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.31435	0.323;0.219;0.323;0.217	B;B;B;B	0.38378	0.272;0.188;0.272;0.092	T	0.20273	-1.0280	10	0.34782	T	0.22	.	3.4838	0.07611	0.1475:0.1347:0.5782:0.1396	.	151;151;151;151	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	F	151;151;151;151;154	ENSP00000265022:S151F;ENSP00000339777:S151F;ENSP00000371599:S151F;ENSP00000440507:S151F	ENSP00000265022:S151F	S	-	2	0	DGKG	187489285	0.974000	0.33945	0.001000	0.08648	0.025000	0.11179	3.286000	0.51724	0.139000	0.18822	0.563000	0.77884	TCT		0.552	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			A	186006591	G	A	186006591	3	1	483	1	0	0	0	0	1	0	0	0	4471	942	33	2	2003	2	DGKG	3	186006591	Missense_Mutation	SNP	G	TCGA-BQ-7060-01A-11D-1961-08	25757336	186006591	12015839	7	26102											
LRBA	987	hgsc.bcm.edu	37	4	151271258	151271259	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr4:151271258_151271259insAT	ENST00000357115.3	-	49	7523_7524	c.7280_7281insAT	c.(7279-7281)attfs	p.I2427fs	LRBA_ENST00000510413.1_Frame_Shift_Ins_p.I2416fs|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Frame_Shift_Ins_p.I2416fs|LRBA_ENST00000507224.1_Frame_Shift_Ins_p.I2416fs	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2427	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TATAGCCAAAAATGAGATCAAT	0.391																																																0																																										SO:0001589	frameshift_variant	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7279_7280dupAT	chr4.hg19:g.151271259_151271260dupAT	ENSP00000349629:p.Ile2427fs		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Frame_Shift_Ins	INS	ENST00000357115.3	hg19	CCDS3773.1																																																																																				0.391	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			AT	151271259	-	AT	151271258	7	5	483	1	0	1	1	0	0	0	0	0	8933	10	1	0	1350	0	LRBA	4	151271258	Frame_Shift_Ins	INS	-	TCGA-BQ-7060-01A-11D-1961-08		151271258	39883018	8	26103											
NSD1	64324	hgsc.bcm.edu	37	5	176637880	176637880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr5:176637880delT	ENST00000439151.2	+	5	2525	c.2480delT	c.(2479-2481)attfs	p.I827fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.I724fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.I558fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.I558fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	827					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGGCCAGCATTTCTAAAAGT	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													69	70	69					5																	176637880		2203	4300	6503	SO:0001589	frameshift_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2480delT	chr5.hg19:g.176637880delT	ENSP00000395929:p.Ile827fs		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	hg19	CCDS4412.1																																																																																				0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		-	176637880	T	-	176637880	7	5	483	1	0	1	0	1	0	0	0	0	10671	1493	52	0	2494	0	NSD1	5	176637880	Frame_Shift_Del	DEL	T	TCGA-BQ-7060-01A-11D-1961-08		176637880	4277380	9	26104											
HSPA1A	3303	hgsc.bcm.edu	37	6	31784255	31784256	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr6:31784255_31784256insCC	ENST00000375651.5	+	1	965_966	c.722_723insCC	c.(721-726)ttcgtgfs	p.V242fs	HSPA1L_ENST00000375654.4_5'Flank|HSPA1A_ENST00000608703.1_Frame_Shift_Ins_p.V77fs|HSPA1L_ENST00000417199.3_5'Flank|HSPA1A_ENST00000458062.2_Frame_Shift_Ins_p.V151fs	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	242					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						GTGAACCACTTCGTGGAGGAGT	0.609																																																0																																										SO:0001589	frameshift_variant	3303			BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"Heat shock proteins / HSP70"	5232	protein-coding gene	gene with protein product		140550	"heat shock 70kD protein 1A"	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	Exception_encountered	chr6.hg19:g.31784255_31784256insCC	ENSP00000364802:p.Val242fs		B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Frame_Shift_Ins	INS	ENST00000375651.5	hg19	CCDS34414.1																																																																																				0.609	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2			CC	31784256	-	CC	31784255	7	5	483	1	0	1	1	0	0	0	0	0	7410	1783	62	0	724	0	HSPA1A	6	31784255	Frame_Shift_Ins	INS	-	TCGA-BQ-7060-01A-11D-1961-08		31784255	139330812	10	26105											
HSPA1B	3304	hgsc.bcm.edu	37	6	31796449	31796450	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr6:31796449_31796450insCC	ENST00000375650.3	+	1	938_939	c.722_723insCC	c.(721-726)ttcgtgfs	p.V242fs	HSPA1B_ENST00000545241.1_Frame_Shift_Ins_p.V151fs	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	242					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						GTGAACCACTTCGTGGAGGAGT	0.609																																																0																																										SO:0001589	frameshift_variant	3304				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"Heat shock proteins / HSP70"	5233	protein-coding gene	gene with protein product		603012	"heat shock 70kD protein 1B"			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	Exception_encountered	chr6.hg19:g.31796449_31796450insCC	ENSP00000364801:p.Val242fs		B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Frame_Shift_Ins	INS	ENST00000375650.3	hg19	CCDS34415.1																																																																																				0.609	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076402.2			CC	31796450	-	CC	31796449	7	5	483	1	0	1	1	0	0	0	0	0	7411	1783	62	0	724	0	HSPA1B	6	31796449	Frame_Shift_Ins	INS	-	TCGA-BQ-7060-01A-11D-1961-08	12194	31796449	139318618	11	26106											
MYO6	4646	hgsc.bcm.edu	37	6	76542650	76542650	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr6:76542650delA	ENST00000369977.3	+	6	622	c.483delA	c.(481-483)acafs	p.T161fs	MYO6_ENST00000369975.1_Frame_Shift_Del_p.T161fs|MYO6_ENST00000369985.4_Frame_Shift_Del_p.T161fs|MYO6_ENST00000369981.3_Frame_Shift_Del_p.T161fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	161	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGAAAATACAAAATTTGTTC	0.413																																																0													74	80	78					6																	76542650		2203	4300	6503	SO:0001589	frameshift_variant	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.483delA	chr6.hg19:g.76542650delA	ENSP00000358994:p.Thr161fs		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Del	DEL	ENST00000369977.3	hg19	CCDS34487.1																																																																																				0.413	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		-	76542650	A	-	76542650	7	5	483	1	0	1	0	1	0	0	0	0	10083	117	5	0	501	0	MYO6	6	76542650	Frame_Shift_Del	DEL	A	TCGA-BQ-7060-01A-11D-1961-08	44746201	76542650	94572417	12	26107											
C7orf57	136288	hgsc.bcm.edu	37	7	48081007	48081007	+	Silent	SNP	C	C	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr7:48081007C>A	ENST00000348904.3	+	3	344	c.132C>A	c.(130-132)ctC>ctA	p.L44L	C7orf57_ENST00000430738.1_Silent_p.L89L|C7orf57_ENST00000420324.1_Silent_p.L89L|C7orf57_ENST00000539619.1_Silent_p.L44L|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	44										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TCCCAGGTCTCAGCAATTTGG	0.542																																																0													51	55	54					7																	48081007		1920	4141	6061	SO:0001819	synonymous_variant	136288			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.132C>A	chr7.hg19:g.48081007C>A			C9JBJ8	Silent	SNP	ENST00000348904.3	hg19	CCDS47583.1																																																																																				0.542	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		A	48081007	C	A	48081007	2	1	483	1	0	0	0	0	0	0	0	1	2406	813	29	4		4	C7orf57	7	48081007	Silent	SNP	C	TCGA-BQ-7060-01A-11D-1961-08		48081007	111057656	13	26108											
ST7	7982	hgsc.bcm.edu	37	7	116863027	116863027	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr7:116863027A>G	ENST00000265437.5	+	16	1965	c.1751A>G	c.(1750-1752)cAa>cGa	p.Q584R	ST7_ENST00000393451.3_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393444.3_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000393446.2_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000432298.1_Intron|ST7_ENST00000422922.1_Intron|ST7_ENST00000323984.3_Intron	NM_021908.2	NP_068708.1	Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		caacatttccaaaactgaact	0.517																																																0													86	86	86					7																	116863027		2203	4300	6503	SO:0001583	missense	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000265437.5:c.1751A>G	chr7.hg19:g.116863027A>G	ENSP00000265437:p.Gln584Arg		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000265437.5	hg19	CCDS5770.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.575245	0.28092	.	.	ENSG00000004866	ENST00000265437	T	0.18174	2.23	4.5	-2.45	0.06481	.	0.926145	0.09155	N	0.840984	T	0.07548	0.0190	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16394	-1.0404	10	0.48119	T	0.1	-0.0371	5.8835	0.18868	0.2864:0.5195:0.1941:0.0	.	561;584	B7Z573;Q9NRC1	.;ST7_HUMAN	R	584	ENSP00000265437:Q584R	ENSP00000265437:Q584R	Q	+	2	0	ST7	116650263	0.048000	0.20356	0.982000	0.44146	0.470000	0.32858	-0.930000	0.03972	-0.261000	0.09405	-0.331000	0.08364	CAA		0.517	ST7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141622.1	NM_021908		G	116863027	A	G	116863027	3	3	483	1	0	0	0	0	1	0	0	0	15234	130	5	3	1813	3	ST7	7	116863027	Missense_Mutation	SNP	A	TCGA-BQ-7060-01A-11D-1961-08	68782020	116863027	42275636	14	26109											
POP1	10940	hgsc.bcm.edu	37	8	99161148	99161148	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr8:99161148G>A	ENST00000401707.2	+	13	1897	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	POP1_ENST00000349693.3_Missense_Mutation_p.V606M	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	606					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCCAGGAAAAGTGACTGGTGA	0.478																																																0													83	72	76					8																	99161148		2203	4300	6503	SO:0001583	missense	10940			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.1816G>A	chr8.hg19:g.99161148G>A	ENSP00000385787:p.Val606Met		A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	hg19	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075851	0.36662	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.37411	1.2;1.2	5.46	4.58	0.56647	.	0.468009	0.23298	N	0.049711	T	0.25232	0.0613	L	0.38838	1.175	0.33165	D	0.54748	B	0.28233	0.204	B	0.21151	0.033	T	0.31420	-0.9944	10	0.41790	T	0.15	-5.9978	7.3479	0.26674	0.2299:0.0:0.7701:0.0	.	606	Q99575	POP1_HUMAN	M	606	ENSP00000385787:V606M;ENSP00000339529:V606M	ENSP00000339529:V606M	V	+	1	0	POP1	99230324	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.436000	0.52856	1.311000	0.45024	-0.150000	0.13652	GTG		0.478	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		A	99161148	G	A	99161148	3	1	483	1	0	0	0	0	1	0	0	0	12253	1029	36	2	1862	2	POP1	8	99161148	Missense_Mutation	SNP	G	TCGA-BQ-7060-01A-11D-1961-08		99161148	47202874	15	26110											
KBTBD4	55709	hgsc.bcm.edu	37	11	47597183	47597183	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr11:47597183delT	ENST00000526005.1	-	3	811	c.658delA	c.(658-660)agafs	p.R220fs	KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.R220fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.R236fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.R269fs|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.R245fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	220	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						AAAGCCTCTCTTTCCTCTTTA	0.443																																																0													164	158	160					11																	47597183		2201	4298	6499	SO:0001589	frameshift_variant	55709			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.658delA	chr11.hg19:g.47597183delT	ENSP00000433340:p.Arg220fs		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	ENST00000526005.1	hg19	CCDS7940.1																																																																																				0.443	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		-	47597183	T	-	47597183	7	5	483	1	0	1	0	1	0	0	0	0	7997	1617	56	0	906	0	KBTBD4	11	47597183	Frame_Shift_Del	DEL	T	TCGA-BQ-7060-01A-11D-1961-08		47597183	87409333	16	26111											
NAA16	79612	hgsc.bcm.edu	37	13	41905433	41905433	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr13:41905433A>T	ENST00000379406.3	+	8	1159	c.835A>T	c.(835-837)Att>Ttt	p.I279F	NAA16_ENST00000403412.3_Missense_Mutation_p.I279F|NAA16_ENST00000379367.3_Missense_Mutation_p.I279F	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	279					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GAGGCTTCAAATTTATGAAGA	0.318																																																0													73	81	78					13																	41905433		2203	4296	6499	SO:0001583	missense	79612			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.835A>T	chr13.hg19:g.41905433A>T	ENSP00000368716:p.Ile279Phe		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	hg19	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242909	0.39598	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.45276	0.9;0.9;0.9	5.53	1.72	0.24424	.	0.233772	0.36167	N	0.002755	T	0.35008	0.0917	L	0.47716	1.5	0.49915	D	0.999832	B;P;B	0.37423	0.031;0.594;0.002	B;P;B	0.44860	0.049;0.462;0.008	T	0.09443	-1.0674	10	0.13470	T	0.59	-3.7053	5.4616	0.16619	0.647:0.1367:0.2163:0.0	.	279;279;279	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	F	279	ENSP00000368674:I279F;ENSP00000368716:I279F;ENSP00000386103:I279F	ENSP00000368674:I279F	I	+	1	0	NAA16	40803433	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	2.768000	0.47645	0.070000	0.16634	0.459000	0.35465	ATT		0.318	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		T	41905433	A	T	41905433	3	4	483	1	0	0	0	0	1	0	0	0	10121	101	4	5	865	5	NAA16	13	41905433	Missense_Mutation	SNP	A	TCGA-BQ-7060-01A-11D-1961-08		41905433	73264445	17	26112											
TEP1	7011	hgsc.bcm.edu	37	14	20841196	20841196	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr14:20841196C>T	ENST00000262715.5	-	48	6965	c.6925G>A	c.(6925-6927)Gaa>Aaa	p.E2309K	TEP1_ENST00000556935.1_Missense_Mutation_p.E2201K|TEP1_ENST00000545983.1_Missense_Mutation_p.E647K	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2309					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCTTAGCTTCCTGCCACAAG	0.517																																																0													77	78	78					14																	20841196		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6925G>A	chr14.hg19:g.20841196C>T	ENSP00000262715:p.Glu2309Lys		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	hg19	CCDS9548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.58|12.58	1.981914|1.981914	0.34942|0.34942	.|.	.|.	ENSG00000129566|ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983|ENST00000553984	T;T;T|.	0.56103|.	2.26;2.26;0.48|.	5.77|5.77	2.31|2.31	0.28768|0.28768	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.860064|.	0.10567|.	N|.	0.659553|.	T|T	0.19485|0.19485	0.0468|0.0468	N|N	0.14661|0.14661	0.345|0.345	0.20638|0.20638	N|N	0.999872|0.999872	B;B;B;B|.	0.14805|.	0.007;0.004;0.011;0.002|.	B;B;B;B|.	0.13407|.	0.006;0.007;0.009;0.003|.	T|T	0.25467|0.25467	-1.0131|-1.0131	10|5	0.06757|.	T|.	0.87|.	0.0511|0.0511	5.2313|5.2313	0.15424|0.15424	0.0:0.62:0.1541:0.2259|0.0:0.62:0.1541:0.2259	.|.	647;2201;1652;2309|.	B4E0B6;G3V5X7;G3V2A4;Q99973|.	.;.;.;TEP1_HUMAN|.	K|E	2309;2309;2201;647|15	ENSP00000262715:E2309K;ENSP00000452574:E2201K;ENSP00000438849:E647K|.	ENSP00000262715:E2309K|.	E|G	-|-	1|2	0|0	TEP1|TEP1	19911036|19911036	0.182000|0.182000	0.23173|0.23173	0.350000|0.350000	0.25708|0.25708	0.972000|0.972000	0.66771|0.66771	0.105000|0.105000	0.15333|0.15333	0.154000|0.154000	0.19237|0.19237	-0.150000|-0.150000	0.13652|0.13652	GAA|GGA		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		T	20841196	C	T	20841196	3	4	483	1	0	0	0	0	1	0	0	0	15764	864	30	2	990	2	TEP1	14	20841196	Missense_Mutation	SNP	C	TCGA-BQ-7060-01A-11D-1961-08		20841196	86508344	18	26113											
NDNL2	56160	hgsc.bcm.edu	37	15	29561225	29561225	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr15:29561225G>C	ENST00000332303.4	-	1	808	c.685C>G	c.(685-687)Cga>Gga	p.R229G	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	229	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)		p.R229*(1)		breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TAACGCTGTCGCACAAAGTCC	0.532																																																1	Substitution - Nonsense(1)	large_intestine(1)											68	75	73					15																	29561225		2203	4300	6503	SO:0001583	missense	56160			AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.685C>G	chr15.hg19:g.29561225G>C	ENSP00000330694:p.Arg229Gly		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	hg19	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392428	0.62066	.	.	ENSG00000185115	ENST00000332303	T	0.06142	3.34	4.1	3.16	0.36331	.	0.069228	0.56097	D	0.000039	T	0.24470	0.0593	M	0.86864	2.845	0.41871	D	0.990272	D	0.64830	0.994	D	0.68483	0.958	T	0.02150	-1.1205	10	0.87932	D	0	.	9.1001	0.36662	0.0:0.0:0.7819:0.2181	.	229	Q96MG7	MAGG1_HUMAN	G	229	ENSP00000330694:R229G	ENSP00000330694:R229G	R	-	1	2	NDNL2	27348517	0.989000	0.36119	0.984000	0.44739	0.885000	0.51271	1.680000	0.37607	1.262000	0.44165	0.563000	0.77884	CGA		0.532	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		C	29561225	G	C	29561225	3	2	483	1	0	0	0	0	1	0	0	0	10250	1095	38	4	233	4	NDNL2	15	29561225	Missense_Mutation	SNP	G	TCGA-BQ-7060-01A-11D-1961-08		29561225	72970167	19	26114											
ARHGAP11A	9824	hgsc.bcm.edu	37	15	32928906	32928906	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr15:32928906T>G	ENST00000361627.3	+	12	2654	c.1932T>G	c.(1930-1932)ttT>ttG	p.F644L	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.F455L|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.F455L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	644					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AAAATCTATTTGAAACTAATG	0.358																																					Colon(45;757 1134 30003 36652)											0													30	32	31					15																	32928906		2197	4296	6493	SO:0001583	missense	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1932T>G	chr15.hg19:g.32928906T>G	ENSP00000355090:p.Phe644Leu		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	hg19	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	3.671	-0.067535	0.07273	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.08370	3.1	4.68	0.799	0.18667	.	0.649114	0.13886	N	0.355958	T	0.05686	0.0149	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40869	-0.9540	10	0.27785	T	0.31	.	6.2376	0.20772	0.2542:0.0:0.2632:0.4826	.	644	Q6P4F7	RHGBA_HUMAN	L	644;455	ENSP00000355090:F644L	ENSP00000355090:F644L	F	+	3	2	ARHGAP11A	30716198	0.999000	0.42202	0.595000	0.28798	0.557000	0.35523	1.332000	0.33805	-0.039000	0.13602	0.455000	0.32223	TTT		0.358	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		G	32928906	T	G	32928906	3	3	483	1	0	0	0	0	1	0	0	0	863	1809	63	5	2001	5	ARHGAP11A	15	32928906	Missense_Mutation	SNP	T	TCGA-BQ-7060-01A-11D-1961-08	3367681	32928906	69602486	20	26115											
TMC5	79838	hgsc.bcm.edu	37	16	19490814	19490814	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr16:19490814C>G	ENST00000396229.2	+	14	2980	c.2231C>G	c.(2230-2232)tCt>tGt	p.S744C	TMC5_ENST00000542583.2_Missense_Mutation_p.S744C|TMC5_ENST00000564959.1_Missense_Mutation_p.S427C|TMC5_ENST00000381414.4_Missense_Mutation_p.S744C|TMC5_ENST00000541464.1_Missense_Mutation_p.S692C|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.S385C|TMC5_ENST00000219821.5_Missense_Mutation_p.S498C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	744					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTGTGTTCTCTTTAGTCAAT	0.473																																																0													246	253	250					16																	19490814		2197	4300	6497	SO:0001583	missense	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2231C>G	chr16.hg19:g.19490814C>G	ENSP00000379531:p.Ser744Cys		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	hg19	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684070	0.29872	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.15	5.15	0.70609	.	0.292700	0.35207	N	0.003365	T	0.49864	0.1582	N	0.26042	0.785	0.34863	D	0.742852	B;B;B;B;B;B	0.31548	0.068;0.12;0.008;0.01;0.328;0.281	B;B;B;B;B;B	0.30401	0.07;0.081;0.023;0.026;0.115;0.07	T	0.62973	-0.6740	10	0.48119	T	0.1	-9.1731	14.3209	0.66487	0.0:0.8051:0.1949:0.0	.	692;427;498;498;744;744	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	C	692;744;744;744;498;427	ENSP00000441227:S692C;ENSP00000370822:S744C;ENSP00000379531:S744C;ENSP00000446274:S744C;ENSP00000219821:S498C	ENSP00000219821:S498C	S	+	2	0	TMC5	19398315	0.525000	0.26290	0.987000	0.45799	0.873000	0.50193	0.913000	0.28611	2.387000	0.81309	0.555000	0.69702	TCT		0.473	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		G	19490814	C	G	19490814	3	3	483	1	0	0	0	0	1	0	0	0	15993	913	32	4	2591	4	TMC5	16	19490814	Missense_Mutation	SNP	C	TCGA-BQ-7060-01A-11D-1961-08		19490814	70863939	21	26116											
C16orf70	80262	hgsc.bcm.edu	37	16	67168085	67168085	+	Silent	SNP	T	T	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr16:67168085T>C	ENST00000219139.3	+	7	653	c.465T>C	c.(463-465)caT>caC	p.H155H	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.H155H	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	155										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATTTTGCCCATGGCCTGGCTT	0.483																																																0													107	100	102					16																	67168085		2200	4300	6500	SO:0001819	synonymous_variant	80262			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.465T>C	chr16.hg19:g.67168085T>C			Q9HA86	Silent	SNP	ENST00000219139.3	hg19	CCDS10828.1																																																																																				0.483	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		C	67168085	T	C	67168085	2	2	483	1	0	0	0	0	0	0	0	1	1831	1461	51	3		3	C16orf70	16	67168085	Silent	SNP	T	TCGA-BQ-7060-01A-11D-1961-08	47677271	67168085	23186668	22	26117											
ERAL1	26284	hgsc.bcm.edu	37	17	27182278	27182278	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr17:27182278T>C	ENST00000254928.5	+	1	323	c.226T>C	c.(226-228)Ttc>Ctc	p.F76L	ERAL1_ENST00000578001.1_3'UTR|FAM222B_ENST00000583953.1_5'Flank	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	76					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTTCCTCGGATTCTCTCAGCC	0.602																																																0													41	43	42					17																	27182278		2203	4300	6503	SO:0001583	missense	26284			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.226T>C	chr17.hg19:g.27182278T>C	ENSP00000254928:p.Phe76Leu		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	hg19	CCDS11244.1	.	.	.	.	.	.	.	.	.	.	T	9.501	1.103237	0.20632	.	.	ENSG00000132591	ENST00000254928	.	.	.	5.25	-1.46	0.08800	.	0.850078	0.10643	N	0.650826	T	0.07188	0.0182	N	0.02011	-0.69	0.09310	N	0.999995	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.33904	-0.9850	9	0.02654	T	1	-3.854	1.1254	0.01734	0.3213:0.163:0.3615:0.1542	.	76;76	O75616;O75616-2	ERAL1_HUMAN;.	L	76	.	ENSP00000254928:F76L	F	+	1	0	ERAL1	24206404	0.113000	0.22115	0.236000	0.24074	0.049000	0.14656	-0.256000	0.08757	-0.052000	0.13311	0.459000	0.35465	TTC		0.602	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			C	27182278	T	C	27182278	3	2	483	1	0	0	0	0	1	0	0	0	5204	1493	52	3	228	3	ERAL1	17	27182278	Missense_Mutation	SNP	T	TCGA-BQ-7060-01A-11D-1961-08		27182278	54012932	23	26118											
SYNGR2	9144	hgsc.bcm.edu	37	17	76167099	76167099	+	Missense_Mutation	SNP	C	C	A	rs147752279		TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr17:76167099C>A	ENST00000225777.3	+	2	360	c.301C>A	c.(301-303)Cgc>Agc	p.R101S	SYNGR2_ENST00000590201.1_Missense_Mutation_p.R45S|SYNGR2_ENST00000588282.1_Missense_Mutation_p.R101S|SYNGR2_ENST00000585591.1_Missense_Mutation_p.R101S|SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000592456.1_3'UTR			O43760	SNG2_HUMAN	synaptogyrin 2	101	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			CGCCACTGACCGCAAGTACCT	0.587																																																0													100	82	88					17																	76167099		2203	4300	6503	SO:0001583	missense	9144			AJ002308	CCDS11753.1	17q25.3	2014-09-11			ENSG00000108639	ENSG00000108639			11499	protein-coding gene	gene with protein product	"cellugyrin"	603926				9760194	Standard	NM_004710		Approved		uc002juu.1	O43760	OTTHUMG00000177457	ENST00000225777.3:c.301C>A	chr17.hg19:g.76167099C>A	ENSP00000225777:p.Arg101Ser		O43762|Q3KQZ2|Q658S7	Missense_Mutation	SNP	ENST00000225777.3	hg19	CCDS11753.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576506	0.86645	.	.	ENSG00000108639	ENST00000225777	T	0.22134	1.97	4.91	4.91	0.64330	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.57254	-0.7843	10	0.87932	D	0	-26.581	18.0587	0.89370	0.0:1.0:0.0:0.0	.	101;101	O43760;Q3KQZ2	SNG2_HUMAN;.	S	101	ENSP00000225777:R101S	ENSP00000225777:R101S	R	+	1	0	SYNGR2	73678694	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.576000	0.60915	2.428000	0.82296	0.561000	0.74099	CGC		0.587	SYNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437009.2			A	76167099	C	A	76167099	3	1	483	1	0	0	0	0	1	0	0	0	15454	652	23	4	307	4	SYNGR2	17	76167099	Missense_Mutation	SNP	C	TCGA-BQ-7060-01A-11D-1961-08	48984821	76167099	5028111	24	26119											
ZNF559	84527	hgsc.bcm.edu	37	19	9453288	9453288	+	Silent	SNP	A	A	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr19:9453288A>G	ENST00000393883.2	+	6	1809	c.1161A>G	c.(1159-1161)ggA>ggG	p.G387G	ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Silent_p.G307G|ZNF177_ENST00000541595.2_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000603380.1_Silent_p.G387G|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000587557.1_Silent_p.G451G|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AGGAATGTGGAAAAGCCTTTA	0.393																																																0													62	57	59					19																	9453288		2203	4300	6503	SO:0001819	synonymous_variant	84527			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1161A>G	chr19.hg19:g.9453288A>G			K7EMG6	Silent	SNP	ENST00000393883.2	hg19	CCDS12211.1																																																																																				0.393	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		G	9453288	A	G	9453288	2	3	483	1	0	0	0	0	0	0	0	1	17995	233	9	3		3	ZNF559	19	9453288	Silent	SNP	A	TCGA-BQ-7060-01A-11D-1961-08		9453288	49675695	25	26120	198	2									
ZNF559	84527	hgsc.bcm.edu	37	19	9453293	9453293	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr19:9453293C>G	ENST00000393883.2	+	6	1814	c.1166C>G	c.(1165-1167)gCc>gGc	p.A389G	ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.A309G|ZNF177_ENST00000541595.2_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.A389G|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.A453G|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TGTGGAAAAGCCTTTATTAAT	0.403																																																0													63	58	60					19																	9453293		2203	4300	6503	SO:0001583	missense	84527			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1166C>G	chr19.hg19:g.9453293C>G	ENSP00000377461:p.Ala389Gly		K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	hg19	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599554	0.46318	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.13901	2.55;2.55	2.22	-0.134	0.13481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10766	0.0263	N	0.21324	0.655	0.09310	N	1	B;B;B	0.25441	0.028;0.126;0.108	B;B;B	0.38500	0.035;0.275;0.114	T	0.44682	-0.9312	9	0.72032	D	0.01	.	2.8735	0.05624	0.0:0.4172:0.241:0.3417	.	389;389;309	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	G	389;309;389	ENSP00000442832:A309G;ENSP00000377461:A389G	ENSP00000325393:A389G	A	+	2	0	ZNF559	9314293	0.000000	0.05858	0.051000	0.19133	0.916000	0.54674	-0.790000	0.04604	0.024000	0.15214	0.313000	0.20887	GCC		0.403	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		G	9453293	C	G	9453293	3	3	483	1	0	0	0	0	1	0	0	0	17995	739	26	4	1180	4	ZNF559	19	9453293	Missense_Mutation	SNP	C	TCGA-BQ-7060-01A-11D-1961-08	5	9453293	49675690	26	26121	198	2									
ZNRF3	84133	hgsc.bcm.edu	37	22	29445350	29445350	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr22:29445350T>C	ENST00000544604.2	+	8	1356	c.1181T>C	c.(1180-1182)gTc>gCc	p.V394A	ZNRF3_ENST00000402174.1_Missense_Mutation_p.V294A|ZNRF3_ENST00000332811.4_Missense_Mutation_p.V294A|ZNRF3_ENST00000406323.3_Missense_Mutation_p.V294A	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	394					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGCAACCCCGTCACCTTGCTG	0.667																																																0													56	64	61					22																	29445350		2180	4280	6460	SO:0001583	missense	84133			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1181T>C	chr22.hg19:g.29445350T>C	ENSP00000443824:p.Val394Ala		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	hg19	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345420	0.24426	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.53	4.5	0.54988	.	0.316033	0.36665	N	0.002471	T	0.67702	0.2921	L	0.44542	1.39	0.34781	D	0.734712	P	0.45531	0.86	B	0.37692	0.256	T	0.70029	-0.4984	10	0.07325	T	0.83	-5.454	10.3398	0.43870	0.0:0.0764:0.0:0.9236	.	394	Q9ULT6	ZNRF3_HUMAN	A	394;294;101;294;294	ENSP00000443824:V394A;ENSP00000328614:V294A;ENSP00000384456:V294A;ENSP00000384553:V294A	ENSP00000328614:V294A	V	+	2	0	ZNRF3	27775350	1.000000	0.71417	0.291000	0.24904	0.272000	0.26649	7.390000	0.79816	0.945000	0.37605	0.533000	0.62120	GTC		0.667	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		C	29445350	T	C	29445350	3	2	483	1	0	0	0	0	1	0	0	0	18218	1667	58	3	907	3	ZNRF3	22	29445350	Missense_Mutation	SNP	T	TCGA-BQ-7060-01A-11D-1961-08		29445350	21859216	27	26122											
BEND2	139105	hgsc.bcm.edu	37	X	18195783	18195783	+	Silent	SNP	A	A	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chrX:18195783A>T	ENST00000380033.4	-	10	1668	c.1536T>A	c.(1534-1536)atT>atA	p.I512I	BEND2_ENST00000380030.3_Silent_p.I421I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	512	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGGAGAACAAAATACGAACCA	0.428																																																0													267	253	258					X																	18195783		2203	4300	6503	SO:0001819	synonymous_variant	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1536T>A	chrX.hg19:g.18195783A>T			E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	hg19	CCDS14184.1																																																																																				0.428	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		T	18195783	A	T	18195783	2	4	483	1	0	0	0	0	0	0	0	1	1398	10	1	5		5	BEND2	23	18195783	Silent	SNP	A	TCGA-BQ-7060-01A-11D-1961-08		18195783	137074777	28	26123											
MTOR	2475	hgsc.bcm.edu	37	1	11307790	11307790	+	Splice_Site	SNP	C	C	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:11307790C>A	ENST00000361445.4	-	8	1193	c.1117G>T	c.(1117-1119)Gtg>Ttg	p.V373L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	373	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CACTGGCACACCTGAGAGAGG	0.498																																																0													95	94	94					1																	11307790		2203	4300	6503	SO:0001630	splice_region_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1117-1G>T	chr1.hg19:g.11307790C>A			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	hg19	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796328	0.50208	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.57273	0.41	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.69823	2.125	0.80722	D	1	B	0.26744	0.158	B	0.19391	0.025	T	0.53092	-0.8487	10	0.56958	D	0.05	-0.496	13.1719	0.59604	0.0:0.9275:0.0:0.0725	.	373	P42345	MTOR_HUMAN	L	373	ENSP00000354558:V373L	ENSP00000354558:V373L	V	-	1	0	MTOR	11230377	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	5.752000	0.68728	2.712000	0.92718	0.650000	0.86243	GTG		0.498	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	Missense_Mutation	A	11307790	C	A	11307790	5	1	484	1	0	0	0	0	0	0	1	0	9956	521	18	4	6736	4	MTOR	1	11307790	Splice_Site	SNP	C	TCGA-BQ-7061-01A-11D-1961-08		11307790	237942831	1	26124											
ZMYM6	9204	hgsc.bcm.edu	37	1	35476600	35476600	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:35476600G>A	ENST00000357182.4	-	9	1327	c.1100C>T	c.(1099-1101)gCg>gTg	p.A367V	ZMYM6_ENST00000373340.2_Missense_Mutation_p.A367V|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A367V|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	367					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A367V(1)|p.A367E(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CAGGGGCACCGCCGAAGAGTT	0.458																																																2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											53	53	53					1																	35476600		2203	4300	6503	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1100C>T	chr1.hg19:g.35476600G>A	ENSP00000349708:p.Ala367Val		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	hg19	CCDS387.2	.	.	.	.	.	.	.	.	.	.	G	0.993	-0.693458	0.03303	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.21191	2.02;3.19	5.2	-0.779	0.10973	.	0.649416	0.15854	N	0.241338	T	0.05181	0.0138	N	0.00926	-1.1	0.19575	N	0.999966	B;B;B	0.16166	0.016;0.004;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.42716	-0.9435	10	0.07644	T	0.81	-7.0E-4	10.0213	0.42044	0.749:0.0:0.251:0.0	.	270;367;367	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	V	367	ENSP00000362437:A367V;ENSP00000349708:A367V	ENSP00000349708:A367V	A	-	2	0	ZMYM6	35249187	0.006000	0.16342	0.025000	0.17156	0.615000	0.37417	0.331000	0.19733	-0.009000	0.14296	0.655000	0.94253	GCG		0.458	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		A	35476600	G	A	35476600	3	1	484	1	0	0	0	0	1	0	0	0	17709	1087	38	1	2909	1	ZMYM6	1	35476600	Missense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	24168810	35476600	213774021	2	26125											
LCE2A	353139	hgsc.bcm.edu	37	1	152671691	152671691	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:152671691G>C	ENST00000368779.1	+	2	365	c.314G>C	c.(313-315)tGc>tCc	p.C105S		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	105	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGGGACTGCTGCTGACCA	0.587																																																0													41	46	45					1																	152671691		2203	4300	6503	SO:0001583	missense	353139				CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"Late cornified envelopes"	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.314G>C	chr1.hg19:g.152671691G>C	ENSP00000357768:p.Cys105Ser		A4QMZ9	Missense_Mutation	SNP	ENST00000368779.1	hg19	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291835	0.23564	.	.	ENSG00000187173	ENST00000368779	T	0.03496	3.91	4.41	4.41	0.53225	.	.	.	.	.	T	0.09069	0.0224	M	0.71206	2.165	0.27116	N	0.962263	D	0.76494	0.999	D	0.78314	0.991	T	0.02691	-1.1123	9	0.87932	D	0	.	12.3335	0.55054	0.0:0.0:1.0:0.0	.	105	Q5TA79	LCE2A_HUMAN	S	105	ENSP00000357768:C105S	ENSP00000357768:C105S	C	+	2	0	LCE2A	150938315	0.999000	0.42202	1.000000	0.80357	0.737000	0.42083	1.350000	0.34010	2.253000	0.74438	0.650000	0.86243	TGC		0.587	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		C	152671691	G	C	152671691	3	2	484	1	0	0	0	0	1	0	0	0	8667	1319	46	4	316	4	LCE2A	1	152671691	Missense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	117195091	152671691	96578930	3	26126											
TNN	63923	hgsc.bcm.edu	37	1	175086172	175086172	+	Silent	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:175086172G>C	ENST00000239462.4	+	10	2330	c.2217G>C	c.(2215-2217)gtG>gtC	p.V739V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	739	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACAGGTATGTGGTGCGCTACA	0.622																																																0													78	77	77					1																	175086172		2203	4300	6503	SO:0001819	synonymous_variant	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2217G>C	chr1.hg19:g.175086172G>C			B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	hg19	CCDS30943.1																																																																																				0.622	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		C	175086172	G	C	175086172	2	2	484	1	0	0	0	0	0	0	0	1	16328	1335	47	4		4	TNN	1	175086172	Silent	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	22414481	175086172	74164449	4	26127											
DHX9	1660	hgsc.bcm.edu	37	1	182850707	182850707	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:182850707A>G	ENST00000367549.3	+	24	2949	c.2839A>G	c.(2839-2841)Atg>Gtg	p.M947V	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	947					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGACTTAATATGGCTACACT	0.363																																					Colon(69;210 1162 3697 13559 39565)											0													111	103	105					1																	182850707		1829	4080	5909	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2839A>G	chr1.hg19:g.182850707A>G	ENSP00000356520:p.Met947Val		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	9.958	1.221960	0.22457	.	.	ENSG00000135829	ENST00000367549	T	0.03468	3.92	5.94	5.94	0.96194	.	0.041899	0.85682	D	0.000000	T	0.05593	0.0147	L	0.52126	1.63	0.52501	D	0.999959	B;B	0.16396	0.002;0.017	B;B	0.10450	0.005;0.005	T	0.41197	-0.9522	10	0.17369	T	0.5	.	16.3945	0.83586	1.0:0.0:0.0:0.0	.	226;947	B3KU66;Q08211	.;DHX9_HUMAN	V	947	ENSP00000356520:M947V	ENSP00000356520:M947V	M	+	1	0	DHX9	181117330	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	6.735000	0.74806	2.265000	0.75225	0.482000	0.46254	ATG		0.363	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		G	182850707	A	G	182850707	3	3	484	1	0	0	0	0	1	0	0	0	4518	449	16	3	2929	3	DHX9	1	182850707	Missense_Mutation	SNP	A	TCGA-BQ-7061-01A-11D-1961-08	7764535	182850707	66399914	5	26128											
ASPM	259266	hgsc.bcm.edu	37	1	197073973	197073974	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:197073973_197073974insA	ENST00000367409.4	-	18	4663_4664	c.4407_4408insT	c.(4405-4410)attatcfs	p.I1470fs	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1470					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATTGTATGATAATAGCAGAAT	0.292																																																0																																										SO:0001589	frameshift_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4408dupT	chr1.hg19:g.197073975_197073975dupA	ENSP00000356379:p.Ile1470fs		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Ins	INS	ENST00000367409.4	hg19	CCDS1389.1																																																																																				0.292	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		A	197073974	-	A	197073973	7	5	484	1	0	1	1	0	0	0	0	0	1056	1406	49	0	6069	0	ASPM	1	197073973	Frame_Shift_Ins	INS	-	TCGA-BQ-7061-01A-11D-1961-08	14223266	197073973	52176648	6	26129											
USP34	9736	hgsc.bcm.edu	37	2	61450209	61450209	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:61450209G>C	ENST00000398571.2	-	64	7811	c.7735C>G	c.(7735-7737)Cga>Gga	p.R2579G	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2579					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTGCAAGTCGATTATTGTAT	0.383																																																0													76	66	69					2																	61450209		1841	4093	5934	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7735C>G	chr2.hg19:g.61450209G>C	ENSP00000381577:p.Arg2579Gly		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	hg19	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151332|3.151332	0.57151|0.57151	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.64803|.	-0.12|.	6.06|6.06	5.17|5.17	0.71159|0.71159	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67702|0.67702	0.2921|0.2921	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|.	0.60160|.	0.987|.	D|.	0.67725|.	0.953|.	T|T	0.65598|0.65598	-0.6129|-0.6129	10|5	0.72032|.	D|.	0.01|.	.|.	15.4863|15.4863	0.75571|0.75571	0.0:0.0:0.6762:0.3238|0.0:0.0:0.6762:0.3238	.|.	2579|.	Q70CQ2|.	UBP34_HUMAN|.	G|W	2427;2427;2579|338	ENSP00000381577:R2579G|.	ENSP00000263989:R2427G|.	R|S	-|-	1|2	2|0	USP34|USP34	61303713|61303713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.187000|5.187000	0.65087|0.65087	1.558000|1.558000	0.49541|0.49541	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.383	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			C	61450209	G	C	61450209	3	2	484	1	0	0	0	0	1	0	0	0	17070	1066	37	4	2973	4	USP34	2	61450209	Missense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08		61450209	181749164	7	26130											
C2orf3	6936	hgsc.bcm.edu	37	2	75921529	75921529	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:75921529G>C	ENST00000321027.3	-	6	991	c.858C>G	c.(856-858)caC>caG	p.H286Q	GCFC2_ENST00000409857.3_Missense_Mutation_p.H248Q|GCFC2_ENST00000541687.1_Missense_Mutation_p.P248A	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	286					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										GGTGTGAGCGGTGAGTTTCCT	0.294																																																0													148	150	149					2																	75921529		2203	4300	6503	SO:0001583	missense	6936			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.858C>G	chr2.hg19:g.75921529G>C	ENSP00000318690:p.His286Gln		A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	hg19	CCDS1961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.83|17.83	3.486559|3.486559	0.63962|0.63962	.|.	.|.	ENSG00000005436|ENSG00000005436	ENST00000321027;ENST00000409857|ENST00000541687	T;T|T	0.19105|0.39229	2.17;2.28|1.09	5.29|5.29	0.803|0.803	0.18691|0.18691	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41282|0.41282	0.1152|0.1152	M|M	0.80982|0.80982	2.52|2.52	0.20926|0.20926	N|N	0.999823|0.999823	D|.	0.64830|.	0.994|.	P|.	0.59288|.	0.855|.	T|T	0.43877|0.43877	-0.9364|-0.9364	10|7	0.42905|0.02654	T|T	0.14|1	-15.9173|-15.9173	7.4758|7.4758	0.27376|0.27376	0.5377:0.0:0.4623:0.0|0.5377:0.0:0.4623:0.0	.|.	286|.	P16383|.	GCF_HUMAN|.	Q|A	286;248|248	ENSP00000318690:H286Q;ENSP00000386552:H248Q|ENSP00000437767:P248A	ENSP00000318690:H286Q|ENSP00000437767:P248A	H|P	-|-	3|1	2|0	C2orf3|C2orf3	75775037|75775037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	1.338000|1.338000	0.33873|0.33873	0.152000|0.152000	0.19188|0.19188	-0.140000|-0.140000	0.14226|0.14226	CAC|CCG		0.294	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		C	75921529	G	C	75921529	3	2	484	1	0	0	0	0	1	0	0	0	2164	1252	44	4	1535	4	C2orf3	2	75921529	Missense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	14471320	75921529	167277844	8	26131											
C2orf55	343990	hgsc.bcm.edu	37	2	99411105	99411105	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:99411105G>C	ENST00000397899.2	-	10	3110	c.2779C>G	c.(2779-2781)Ctg>Gtg	p.L927V		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	927																	AGCTGATGCAGTTCCTTCTCC	0.478																																																0													109	107	108					2																	99411105		1996	4184	6180	SO:0001583	missense	343990			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2779C>G	chr2.hg19:g.99411105G>C	ENSP00000380996:p.Leu927Val			Missense_Mutation	SNP	ENST00000397899.2	hg19	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057396	0.36277	.	.	ENSG00000196872	ENST00000397899	T	0.46819	0.86	5.27	0.764	0.18465	.	.	.	.	.	T	0.55449	0.1921	L	0.59436	1.845	0.24768	N	0.992884	D	0.76494	0.999	D	0.80764	0.994	T	0.49532	-0.8930	9	0.08599	T	0.76	-7.2777	8.2997	0.32006	0.3464:0.0:0.6536:0.0	.	927	Q6NV74	CB055_HUMAN	V	927	ENSP00000380996:L927V	ENSP00000380996:L927V	L	-	1	2	C2orf55	98777537	0.018000	0.18449	0.911000	0.35937	0.969000	0.65631	-0.303000	0.08210	-0.047000	0.13423	-0.255000	0.11280	CTG		0.478	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		C	99411105	G	C	99411105	3	2	484	1	0	0	0	0	1	0	0	0	2178	1020	36	4	113	4	C2orf55	2	99411105	Missense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	23489576	99411105	143788268	9	26132											
XIRP2	129446	hgsc.bcm.edu	37	2	168103542	168103542	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:168103542T>A	ENST00000409195.1	+	9	5729	c.5640T>A	c.(5638-5640)caT>caA	p.H1880Q	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H1880Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H1658Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1705					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATCAAGCCATCGATGGAAAG	0.383																																																0													83	75	77					2																	168103542		1885	4124	6009	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5640T>A	chr2.hg19:g.168103542T>A	ENSP00000386840:p.His1880Gln		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.991182	0.00439	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02280	4.36;4.36;4.36	5.46	-10.9	0.00192	.	1.270260	0.04947	N	0.459528	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.45279	-0.9272	10	0.20519	T	0.43	4.4394	1.0633	0.01605	0.3314:0.095:0.2197:0.3539	.	1705;1705;1658	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	1880;1880;1658	ENSP00000386840:H1880Q;ENSP00000295237:H1880Q;ENSP00000387255:H1658Q	ENSP00000295237:H1880Q	H	+	3	2	XIRP2	167811788	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.516000	0.00222	-2.709000	0.00395	-1.577000	0.00868	CAT		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168103542	T	A	168103542	3	1	484	1	0	0	0	0	1	0	0	0	17435	1432	50	5	5670	5	XIRP2	2	168103542	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	68692437	168103542	75095831	10	26133											
SPEG	10290	hgsc.bcm.edu	37	2	220309733	220309733	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:220309733C>G	ENST00000312358.7	+	3	797	c.665C>G	c.(664-666)cCa>cGa	p.P222R	SPEG_ENST00000396695.2_Intron|SPEG_ENST00000396698.1_Missense_Mutation_p.P118R	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	222					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGCCGGGCCACGGCACCTG	0.716																																																0													10	14	13					2																	220309733		1928	4078	6006	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.665C>G	chr2.hg19:g.220309733C>G	ENSP00000311684:p.Pro222Arg		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	hg19	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587755	0.46110	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698	T;T	0.69175	-0.38;-0.11	4.86	4.86	0.63082	.	0.000000	0.36932	U	0.002335	T	0.61739	0.2371	N	0.14661	0.345	0.80722	D	1	D	0.59357	0.985	P	0.58077	0.832	T	0.61058	-0.7139	10	0.31617	T	0.26	.	11.9491	0.52944	0.0:0.9075:0.0:0.0925	.	222	Q15772	SPEG_HUMAN	R	222;222;118	ENSP00000311684:P222R;ENSP00000379926:P118R	ENSP00000265327:P222R	P	+	2	0	SPEG	220017977	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.189000	0.42621	2.227000	0.72691	0.442000	0.29010	CCA		0.716	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		G	220309733	C	G	220309733	3	3	484	1	0	0	0	0	1	0	0	0	15041	594	21	4	675	4	SPEG	2	220309733	Missense_Mutation	SNP	C	TCGA-BQ-7061-01A-11D-1961-08	52206191	220309733	22889640	11	26134											
MRPL44	65080	hgsc.bcm.edu	37	2	224824513	224824513	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:224824513A>G	ENST00000258383.3	+	2	511	c.442A>G	c.(442-444)Atg>Gtg	p.M148V		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	148	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTACCCAGACATGCCCACTGA	0.428																																																0													76	80	79					2																	224824513		2203	4300	6503	SO:0001583	missense	65080			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.442A>G	chr2.hg19:g.224824513A>G	ENSP00000258383:p.Met148Val		Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	hg19	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	A	3.222	-0.159303	0.06544	.	.	ENSG00000135900	ENST00000258383	T	0.39997	1.05	5.42	-3.5	0.04710	Ribonuclease III (3);	0.216533	0.40222	N	0.001151	T	0.15046	0.0363	N	0.04880	-0.145	0.21020	N	0.9998	B	0.02656	0.0	B	0.06405	0.002	T	0.07539	-1.0767	10	0.38643	T	0.18	-2.8434	4.3393	0.11101	0.5634:0.2199:0.0:0.2166	.	148	Q9H9J2	RM44_HUMAN	V	148	ENSP00000258383:M148V	ENSP00000258383:M148V	M	+	1	0	MRPL44	224532757	0.005000	0.15991	0.981000	0.43875	0.030000	0.12068	0.015000	0.13355	-0.206000	0.10203	-2.558000	0.00175	ATG		0.428	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		G	224824513	A	G	224824513	3	3	484	1	0	0	0	0	1	0	0	0	9810	217	8	3	448	3	MRPL44	2	224824513	Missense_Mutation	SNP	A	TCGA-BQ-7061-01A-11D-1961-08	4514780	224824513	18374860	12	26135											
GOLGA4	2803	hgsc.bcm.edu	37	3	37365472	37365472	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:37365472G>A	ENST00000361924.2	+	14	2469	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	GOLGA4_ENST00000356847.4_Missense_Mutation_p.A721T|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	699	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTATTAAAAGCCCGTCACAA	0.358																																																0													32	35	34					3																	37365472		2195	4266	6461	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.2095G>A	chr3.hg19:g.37365472G>A	ENSP00000354486:p.Ala699Thr		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	hg19	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	6.302	0.423898	0.11928	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.22539	1.99;1.99;1.95	5.22	3.44	0.39384	.	0.449282	0.16613	N	0.206829	T	0.13329	0.0323	N	0.25890	0.77	0.09310	N	1	B;B;B;B	0.12013	0.005;0.001;0.001;0.002	B;B;B;B	0.09377	0.004;0.004;0.004;0.003	T	0.30563	-0.9974	10	0.15066	T	0.55	.	10.028	0.42083	0.2751:0.0:0.7249:0.0	.	699;699;721;699	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	T	699;721;260;570	ENSP00000354486:A699T;ENSP00000349305:A721T;ENSP00000405842:A570T	ENSP00000349305:A721T	A	+	1	0	GOLGA4	37340476	0.002000	0.14202	0.168000	0.22838	0.683000	0.39861	0.601000	0.24119	0.721000	0.32231	0.655000	0.94253	GCC		0.358	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		A	37365472	G	A	37365472	3	1	484	1	0	0	0	0	1	0	0	0	6557	971	34	2	2219	2	GOLGA4	3	37365472	Missense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08		37365472	160656958	13	26136											
SETD2	29072	hgsc.bcm.edu	37	3	47164114	47164114	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:47164114delA	ENST00000409792.3	-	3	2054	c.2012delT	c.(2011-2013)ttafs	p.L671fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	671					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATTTATATTTAATTCTATGGG	0.328			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													58	63	61					3																	47164114		2203	4299	6502	SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2012delT	chr3.hg19:g.47164114delA	ENSP00000386759:p.Leu671fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	hg19	CCDS2749.2																																																																																				0.328	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		-	47164114	A	-	47164114	7	5	484	1	0	1	0	1	0	0	0	0	14137	372	13	0	5758	0	SETD2	3	47164114	Frame_Shift_Del	DEL	A	TCGA-BQ-7061-01A-11D-1961-08	9798642	47164114	150858316	14	26137											
ACY1	95	hgsc.bcm.edu	37	3	52023049	52023049	+	Silent	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:52023049G>C	ENST00000404366.2	+	15	1331	c.1185G>C	c.(1183-1185)ctG>ctC	p.L395L	ACY1_ENST00000476351.1_Silent_p.L360L|ACY1_ENST00000476854.1_Silent_p.L330L|ACY1_ENST00000458031.2_Silent_p.L485L|ACY1_ENST00000494103.1_Silent_p.L323L|ABHD14A-ACY1_ENST00000463937.1_Silent_p.L496L	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	395					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CACGCCTGCTGCCTGCCCTTG	0.607																																																0													116	102	107					3																	52023049		2203	4300	6503	SO:0001819	synonymous_variant	95			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.1185G>C	chr3.hg19:g.52023049G>C			C9J6I6|C9J9D8|C9JWD4	Silent	SNP	ENST00000404366.2	hg19	CCDS2844.1																																																																																				0.607	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		C	52023049	G	C	52023049	2	2	484	1	0	0	0	0	0	0	0	1	226	1306	46	4		4	ACY1	3	52023049	Silent	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	4858935	52023049	145999381	15	26138											
PBRM1	55193	hgsc.bcm.edu	37	3	52651555	52651555	+	Splice_Site	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:52651555C>T	ENST00000296302.7	-	14	1543		c.e14-1		PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTTCTTTTTACTGTTGAGGGG	0.348			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													52	52	52					3																	52651555		2202	4300	6502	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1542-1G>A	chr3.hg19:g.52651555C>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	hg19		.	.	.	.	.	.	.	.	.	.	C	21.4	4.147027	0.77888	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.139	0.98050	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52626595	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.810000	0.55613	2.764000	0.94973	0.655000	0.94253	.		0.348	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	T	52651555	C	T	52651555	5	4	484	1	0	0	0	0	0	0	1	0	11493	579	20	2	3427	2	PBRM1	3	52651555	Splice_Site	SNP	C	TCGA-BQ-7061-01A-11D-1961-08	628506	52651555	145370875	16	26139											
KIAA2018	205717	hgsc.bcm.edu	37	3	113377559	113377559	+	Silent	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:113377559T>C	ENST00000478658.1	-	5	2987	c.2970A>G	c.(2968-2970)tcA>tcG	p.S990S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.S990S			Q68DE3	K2018_HUMAN	KIAA2018	990						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCATTGTATCTGATGAATCTT	0.393																																																0													113	106	108					3																	113377559		1870	4096	5966	SO:0001819	synonymous_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2970A>G	chr3.hg19:g.113377559T>C			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	hg19	CCDS43133.1																																																																																				0.393	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		C	113377559	T	C	113377559	2	2	484	1	0	0	0	0	0	0	0	1	8270	1567	55	3		3	KIAA2018	3	113377559	Silent	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	60726004	113377559	84644871	17	26140											
CD86	942	hgsc.bcm.edu	37	3	121822644	121822644	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:121822644C>G	ENST00000330540.2	+	3	466	c.350C>G	c.(349-351)cCc>cGc	p.P117R	CD86_ENST00000393627.2_Missense_Mutation_p.P111R|CD86_ENST00000469710.1_Missense_Mutation_p.P35R|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	117	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	CACAAAAAGCCCACAGGAATG	0.453																																					GBM(67;1379 1389 36064 39806)											0													129	134	132					3																	121822644		2203	4300	6503	SO:0001583	missense	942				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.350C>G	chr3.hg19:g.121822644C>G	ENSP00000332049:p.Pro117Arg		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	hg19	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769867	0.49680	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.54	4.67	0.58626	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.828917	0.10874	N	0.624588	T	0.55768	0.1941	M	0.82630	2.6	0.25045	N	0.991176	D	0.64830	0.994	D	0.65987	0.94	T	0.44574	-0.9319	10	0.41790	T	0.15	-0.8312	10.1893	0.43017	0.0:0.9112:0.0:0.0888	.	117	P42081	CD86_HUMAN	R	35;117;111;111	ENSP00000418988:P35R;ENSP00000332049:P117R;ENSP00000419116:P111R;ENSP00000377248:P111R	ENSP00000332049:P117R	P	+	2	0	CD86	123305334	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.065000	0.14466	1.578000	0.49821	0.655000	0.94253	CCC		0.453	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		G	121822644	C	G	121822644	3	3	484	1	0	0	0	0	1	0	0	0	3045	623	22	4	360	4	CD86	3	121822644	Missense_Mutation	SNP	C	TCGA-BQ-7061-01A-11D-1961-08	8445085	121822644	76199786	18	26141											
USP38	84640	hgsc.bcm.edu	37	4	144141548	144141548	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr4:144141548G>C	ENST00000307017.4	+	10	3574	c.3068G>C	c.(3067-3069)tGt>tCt	p.C1023S		NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	1023					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CCAGGAAGCTGTGGACCAACT	0.512																																																0													92	94	93					4																	144141548		2203	4300	6503	SO:0001583	missense	84640			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.3068G>C	chr4.hg19:g.144141548G>C	ENSP00000303434:p.Cys1023Ser		B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	hg19	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312440	0.81358	.	.	ENSG00000170185	ENST00000307017	T	0.10477	2.87	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.01452	-1.1351	10	0.62326	D	0.03	-13.0776	20.1294	0.97995	0.0:0.0:1.0:0.0	.	1023	Q8NB14	UBP38_HUMAN	S	1023	ENSP00000303434:C1023S	ENSP00000303434:C1023S	C	+	2	0	USP38	144360998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.758000	0.94735	0.591000	0.81541	TGT		0.512	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		C	144141548	G	C	144141548	3	2	484	1	0	0	0	0	1	0	0	0	17074	1377	48	4	3106	4	USP38	4	144141548	Missense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08		144141548	47012728	19	26142											
SMAD1	4086	hgsc.bcm.edu	37	4	146475084	146475084	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr4:146475084T>G	ENST00000515385.1	+	6	1688	c.1146T>G	c.(1144-1146)atT>atG	p.I382M	SMAD1_ENST00000394092.2_Missense_Mutation_p.I382M|SMAD1_ENST00000302085.4_Missense_Mutation_p.I382M			Q15797	SMAD1_HUMAN	SMAD family member 1	382	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GTCTGAAAATTTTTAACAACC	0.398																																					Pancreas(182;1287 2092 10326 35158 50562)											0													165	158	160					4																	146475084		2203	4300	6503	SO:0001583	missense	4086			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"SMADs"	6767	protein-coding gene	gene with protein product		601595	"MAD, mothers against decapentaplegic homolog 1 (Drosophila)", "SMAD, mothers against DPP homolog 1 (Drosophila)"	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.1146T>G	chr4.hg19:g.146475084T>G	ENSP00000426568:p.Ile382Met		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	hg19	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.782414	0.70222	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.97811	-4.55;-4.55;-4.55	5.73	2.08	0.27032	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	H	0.95712	3.71	0.80722	D	1	D	0.54397	0.966	D	0.73708	0.981	D	0.98389	1.0562	10	0.87932	D	0	.	9.1222	0.36795	0.0:0.1974:0.0:0.8026	.	382	Q15797	SMAD1_HUMAN	M	382	ENSP00000305769:I382M;ENSP00000377652:I382M;ENSP00000426568:I382M	ENSP00000305769:I382M	I	+	3	3	SMAD1	146694534	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	0.316000	0.19469	0.136000	0.18733	0.528000	0.53228	ATT		0.398	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		G	146475084	T	G	146475084	3	3	484	1	0	0	0	0	1	0	0	0	14763	1829	64	5	1164	5	SMAD1	4	146475084	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	2333536	146475084	44679192	20	26143											
IRF2	3660	hgsc.bcm.edu	37	4	185339324	185339324	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr4:185339324G>C	ENST00000393593.3	-	5	615	c.408C>G	c.(406-408)atC>atG	p.I136M	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	136					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AGATTACCTTGATGTGCTTAA	0.398																																																0													317	261	280					4																	185339324		2203	4300	6503	SO:0001583	missense	3660				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.408C>G	chr4.hg19:g.185339324G>C	ENSP00000377218:p.Ile136Met		D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	hg19	CCDS3835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.31|11.31	1.601714|1.601714	0.28534|0.28534	.|.	.|.	ENSG00000168310|ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316|ENST00000505067	D;D;D;D|.	0.98090|.	-4.66;-4.65;-4.63;-4.71|.	6.17|6.17	5.17|5.17	0.71159|0.71159	.|.	0.584493|.	0.19685|.	N|.	0.108406|.	T|T	0.49047|0.49047	0.1534|0.1534	L|L	0.44542|0.44542	1.39|1.39	0.42544|0.42544	D|D	0.993085|0.993085	B|.	0.23854|.	0.092|.	B|.	0.18263|.	0.021|.	T|T	0.44205|0.44205	-0.9343|-0.9343	10|5	0.45353|.	T|.	0.12|.	-20.7082|-20.7082	5.7421|5.7421	0.18100|0.18100	0.129:0.0:0.6708:0.2002|0.129:0.0:0.6708:0.2002	.|.	136|.	P14316|.	IRF2_HUMAN|.	M|E	136|35	ENSP00000377218:I136M;ENSP00000427204:I136M;ENSP00000424552:I136M;ENSP00000422860:I136M|.	ENSP00000377218:I136M|.	I|Q	-|-	3|1	3|0	IRF2|IRF2	185576318|185576318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	0.647000|0.647000	0.24812|0.24812	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	ATC|CAA		0.398	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			C	185339324	G	C	185339324	3	2	484	1	0	0	0	0	1	0	0	0	7830	1280	45	4	661	4	IRF2	4	185339324	Missense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	38864240	185339324	5814952	21	26144											
UGT3A2	167127	hgsc.bcm.edu	37	5	36039694	36039694	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr5:36039694A>C	ENST00000282507.3	-	5	1061	c.960T>G	c.(958-960)ttT>ttG	p.F320L	UGT3A2_ENST00000513300.1_Missense_Mutation_p.F286L|UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000545528.1_Missense_Mutation_p.F18L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	320					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTAGGTGAGCAAAGGCATTGT	0.493																																																0													142	130	134					5																	36039694		2203	4300	6503	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.960T>G	chr5.hg19:g.36039694A>C	ENSP00000282507:p.Phe320Leu		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	hg19	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	A	8.718	0.913757	0.17907	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.50001	0.76;0.76;4.06	3.18	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	L	0.35414	1.06	0.36452	D	0.866122	D;D	0.89917	0.998;1.0	D;D	0.91635	0.986;0.999	T	0.54543	-0.8278	10	0.02654	T	1	.	6.7806	0.23643	0.8835:0.0:0.1165:0.0	.	286;320	E9PFK7;Q3SY77	.;UD3A2_HUMAN	L	320;286;18	ENSP00000282507:F320L;ENSP00000427404:F286L;ENSP00000445367:F18L	ENSP00000282507:F320L	F	-	3	2	UGT3A2	36075451	0.999000	0.42202	0.882000	0.34594	0.212000	0.24457	0.703000	0.25646	1.689000	0.51079	0.482000	0.46254	TTT		0.493	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		C	36039694	A	C	36039694	3	2	484	1	0	0	0	0	1	0	0	0	16969	127	5	5	623	5	UGT3A2	5	36039694	Missense_Mutation	SNP	A	TCGA-BQ-7061-01A-11D-1961-08		36039694	144875566	22	26145											
GFRA3	2676	hgsc.bcm.edu	37	5	137610073	137610073	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr5:137610073A>G	ENST00000274721.3	-	1	287	c.41T>C	c.(40-42)gTc>gCc	p.V14A	GFRA3_ENST00000378362.3_Missense_Mutation_p.V14A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	14					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			caacatcaggactacgggcgg	0.731																																																0													6	10	8					5																	137610073		2055	4108	6163	SO:0001583	missense	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.41T>C	chr5.hg19:g.137610073A>G	ENSP00000274721:p.Val14Ala		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	hg19	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.413148	0.25465	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.49139	1.38;0.79	3.8	2.63	0.31362	.	2.674420	0.01678	N	0.025995	T	0.31071	0.0785	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.18263	0.021;0.009	T	0.24261	-1.0165	10	0.51188	T	0.08	0.3298	5.8269	0.18558	0.879:0.0:0.121:0.0	.	14;14	O60609-2;O60609	.;GFRA3_HUMAN	A	14	ENSP00000274721:V14A;ENSP00000367613:V14A	ENSP00000274721:V14A	V	-	2	0	GFRA3	137637972	0.015000	0.18098	0.128000	0.21923	0.007000	0.05969	1.017000	0.29989	0.799000	0.34018	0.477000	0.44152	GTC		0.731	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		G	137610073	A	G	137610073	3	3	484	1	0	0	0	0	1	0	0	0	6351	275	10	3	1193	3	GFRA3	5	137610073	Missense_Mutation	SNP	A	TCGA-BQ-7061-01A-11D-1961-08	101570379	137610073	43305187	23	26146											
SNRPC	6631	hgsc.bcm.edu	37	6	34730469	34730469	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:34730469T>C	ENST00000244520.5	+	3	287	c.149T>C	c.(148-150)aTt>aCt	p.I50T	SNRPC_ENST00000374017.3_Missense_Mutation_p.I71T|SNRPC_ENST00000374018.1_Missense_Mutation_p.I9T|SNRPC_ENST00000474635.1_3'UTR	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						CAGAGCCTGATTGACAAAACA	0.413																																					NSCLC(131;576 1831 5287 11175 13324)											0													81	72	75					6																	34730469		2203	4300	6503	SO:0001583	missense	6631				CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.149T>C	chr6.hg19:g.34730469T>C	ENSP00000244520:p.Ile50Thr			Missense_Mutation	SNP	ENST00000244520.5	hg19	CCDS34436.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330727	0.60853	.	.	ENSG00000124562	ENST00000244520;ENST00000374018;ENST00000374017	T;T;T	0.32988	1.43;1.43;1.43	6.17	4.99	0.66335	.	0.093403	0.64402	N	0.000001	T	0.20170	0.0485	M	0.80422	2.495	0.80722	D	1	P	0.36144	0.539	B	0.28709	0.093	T	0.05273	-1.0895	10	0.52906	T	0.07	.	12.5154	0.56030	0.1252:0.0:0.0:0.8748	.	50	P09234	RU1C_HUMAN	T	50;9;71	ENSP00000244520:I50T;ENSP00000363130:I9T;ENSP00000363129:I71T	ENSP00000244520:I50T	I	+	2	0	SNRPC	34838447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.602000	0.82796	1.111000	0.41721	0.533000	0.62120	ATT		0.413	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040255.1	NM_003093		C	34730469	T	C	34730469	3	2	484	1	0	0	0	0	1	0	0	0	14869	1493	52	3	159	3	SNRPC	6	34730469	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08		34730469	136384598	24	26147											
PPARD	5467	hgsc.bcm.edu	37	6	35392132	35392132	+	Silent	SNP	A	A	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:35392132A>C	ENST00000311565.4	+	8	1003	c.654A>C	c.(652-654)acA>acC	p.T218T	PPARD_ENST00000540939.1_Silent_p.T115T|PPARD_ENST00000448077.2_Silent_p.T179T|PPARD_ENST00000444397.1_Silent_p.T218T|PPARD_ENST00000337400.2_Silent_p.T218T|PPARD_ENST00000418635.2_Silent_p.T120T|PPARD_ENST00000360694.3_Silent_p.T218T	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	218					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ACATCGAGACATTGTGGCAGG	0.597																																																0													56	54	55					6																	35392132		2203	4300	6503	SO:0001819	synonymous_variant	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.654A>C	chr6.hg19:g.35392132A>C			A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	ENST00000311565.4	hg19	CCDS4803.1																																																																																				0.597	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		C	35392132	A	C	35392132	2	2	484	1	0	0	0	0	0	0	0	1	12300	204	8	5		5	PPARD	6	35392132	Silent	SNP	A	TCGA-BQ-7061-01A-11D-1961-08	661663	35392132	135722935	25	26148											
TCTE1	202500	hgsc.bcm.edu	37	6	44254102	44254102	+	Missense_Mutation	SNP	C	C	T	rs149566851		TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:44254102C>T	ENST00000371505.4	-	3	567	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	TCTE1_ENST00000371504.1_5'Flank|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	149										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCAGCTGCCGCCATGGTGG	0.612																																																0													69	62	64					6																	44254102		2203	4300	6503	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.445G>A	chr6.hg19:g.44254102C>T	ENSP00000360560:p.Gly149Ser		B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	hg19	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172677	0.38413	.	.	ENSG00000146221	ENST00000371505	T	0.53857	0.6	4.95	0.751	0.18392	.	0.494509	0.24332	N	0.039444	T	0.22666	0.0547	M	0.66939	2.045	0.31913	N	0.614463	B	0.29508	0.246	B	0.15484	0.013	T	0.02698	-1.1122	10	0.42905	T	0.14	-22.0618	3.2087	0.06675	0.1282:0.533:0.1253:0.2135	.	149	Q5JU00	TCTE1_HUMAN	S	149	ENSP00000360560:G149S	ENSP00000360560:G149S	G	-	1	0	TCTE1	44362080	0.194000	0.23325	0.977000	0.42913	0.826000	0.46750	1.144000	0.31565	1.073000	0.40885	0.563000	0.77884	GGC		0.612	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		T	44254102	C	T	44254102	3	4	484	1	0	0	0	0	1	0	0	0	15722	652	23	1	1072	1	TCTE1	6	44254102	Missense_Mutation	SNP	C	TCGA-BQ-7061-01A-11D-1961-08	8861970	44254102	126860965	26	26149											
TDRD6	221400	hgsc.bcm.edu	37	6	46660547	46660547	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:46660547G>C	ENST00000316081.6	+	1	4682	c.4682G>C	c.(4681-4683)aGg>aCg	p.R1561T	TDRD6_ENST00000544460.1_Missense_Mutation_p.R1561T	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1561					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTAGCAGACAGGAGAAATTGT	0.383																																																0													143	136	139					6																	46660547		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4682G>C	chr6.hg19:g.46660547G>C	ENSP00000346065:p.Arg1561Thr		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	hg19	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	4.125	0.021357	0.08006	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14640	2.49;2.49	5.77	1.57	0.23409	Maternal tudor protein (1);	2.015520	0.01660	N	0.025077	T	0.01870	0.0059	N	0.17082	0.46	0.09310	N	1	B;B	0.20550	0.037;0.046	B;B	0.16289	0.009;0.015	T	0.36040	-0.9764	10	0.14252	T	0.57	-1.2406	1.4939	0.02462	0.3025:0.1233:0.4278:0.1465	.	1561;1561	F5H5M3;O60522	.;TDRD6_HUMAN	T	1561	ENSP00000443299:R1561T;ENSP00000346065:R1561T	ENSP00000346065:R1561T	R	+	2	0	TDRD6	46768506	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.037000	0.13840	-0.027000	0.13873	-0.345000	0.07892	AGG		0.383	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		C	46660547	G	C	46660547	3	2	484	1	0	0	0	0	1	0	0	0	15739	1000	35	4	4684	4	TDRD6	6	46660547	Missense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	2406445	46660547	124454520	27	26150											
FAM46A	55603	hgsc.bcm.edu	37	6	82461531	82461531	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:82461531C>T	ENST00000320172.6	-	2	642	c.328G>A	c.(328-330)Gag>Aag	p.E110K	FAM46A_ENST00000369754.3_Missense_Mutation_p.E129K|FAM46A_ENST00000369756.3_Missense_Mutation_p.E191K	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	110					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		ATGCGCTTCTCGGCCAGGCGC	0.672																																																0													33	33	33					6																	82461531		2199	4296	6495	SO:0001583	missense	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.328G>A	chr6.hg19:g.82461531C>T	ENSP00000318298:p.Glu110Lys		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	hg19	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133356	0.77662	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.24538	1.85;1.85;1.85	5.38	5.38	0.77491	Domain of unknown function DUF1693 (1);	0.093645	0.64402	D	0.000001	T	0.12902	0.0313	L	0.39514	1.22	0.80722	D	1	P;P	0.41748	0.524;0.761	B;B	0.35413	0.202;0.128	T	0.03268	-1.1054	9	.	.	.	-16.9061	18.9095	0.92477	0.0:1.0:0.0:0.0	.	110;129	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	K	129;110;191	ENSP00000358769:E129K;ENSP00000318298:E110K;ENSP00000358771:E191K	.	E	-	1	0	FAM46A	82518250	0.983000	0.35010	0.952000	0.39060	0.004000	0.04260	2.564000	0.45931	2.786000	0.95864	0.563000	0.77884	GAG		0.672	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			T	82461531	C	T	82461531	3	4	484	1	0	0	0	0	1	0	0	0	5567	893	31	1	1008	1	FAM46A	6	82461531	Missense_Mutation	SNP	C	TCGA-BQ-7061-01A-11D-1961-08	35800984	82461531	88653536	28	26151											
ROS1	6098	hgsc.bcm.edu	37	6	117706858	117706858	+	Silent	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:117706858T>A	ENST00000368508.3	-	15	2490	c.2292A>T	c.(2290-2292)ggA>ggT	p.G764G	ROS1_ENST00000368507.3_Silent_p.G759G|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	764					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATATGTCTTTCCAGCCCAGT	0.423			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													94	87	89					6																	117706858		2203	4300	6503	SO:0001819	synonymous_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2292A>T	chr6.hg19:g.117706858T>A			Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	hg19	CCDS5116.1																																																																																				0.423	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			A	117706858	T	A	117706858	2	1	484	1	0	0	0	0	0	0	0	1	13537	1770	62	5		5	ROS1	6	117706858	Silent	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	35245327	117706858	53408209	29	26152											
PDE7B	27115	hgsc.bcm.edu	37	6	136512787	136512788	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:136512787_136512788insA	ENST00000308191.6	+	13	1465_1466	c.1162_1163insA	c.(1162-1164)gaafs	p.E388fs	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	388	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.E388*(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GCTCTTCCGGGAATGGGCCCAT	0.589																																																1	Substitution - Nonsense(1)	lung(1)																																								SO:0001589	frameshift_variant	27115			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1164dupA	chr6.hg19:g.136512789_136512789dupA	ENSP00000310661:p.Glu388fs		Q5W154	Frame_Shift_Ins	INS	ENST00000308191.6	hg19	CCDS5175.1																																																																																				0.589	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			A	136512788	-	A	136512787	7	5	484	1	0	1	1	0	0	0	0	0	11654	1175	41	0	1212	0	PDE7B	6	136512787	Frame_Shift_Ins	INS	-	TCGA-BQ-7061-01A-11D-1961-08	18805929	136512787	34602280	30	26153											
RAET1G	353091	hgsc.bcm.edu	37	6	150240371	150240371	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:150240371T>C	ENST00000367360.2	-	3	506	c.439A>G	c.(439-441)Atc>Gtc	p.I147V	RAET1G_ENST00000479265.1_Missense_Mutation_p.I147V|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		AGGAGGAAGATCTGTCCATCG	0.507																																																0													210	194	200					6																	150240371		2203	4300	6503	SO:0001583	missense	353091			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.439A>G	chr6.hg19:g.150240371T>C	ENSP00000356329:p.Ile147Val			Missense_Mutation	SNP	ENST00000367360.2	hg19	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	T	2.316	-0.356879	0.05138	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.00695	5.83;5.83	2.4	-0.116	0.13555	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00356	0.0011	L	0.39898	1.24	0.09310	N	1	B	0.24043	0.096	B	0.37091	0.241	T	0.33650	-0.9860	9	0.22706	T	0.39	.	6.0143	0.19594	0.0:0.1591:0.0:0.8409	.	147	Q6H3X3	RET1G_HUMAN	V	147	ENSP00000356329:I147V;ENSP00000417503:I147V	ENSP00000356329:I147V	I	-	1	0	RAET1G	150282064	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-1.019000	0.03622	-0.018000	0.14079	-1.493000	0.00968	ATC		0.507	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			C	150240371	T	C	150240371	3	2	484	1	0	0	0	0	1	0	0	0	13006	1435	50	3	577	3	RAET1G	6	150240371	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	13727584	150240371	20874696	31	26154											
GNAI1	2770	hgsc.bcm.edu	37	7	79842142	79842142	+	Silent	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:79842142A>G	ENST00000351004.3	+	7	1204	c.831A>G	c.(829-831)aaA>aaG	p.K277K	GNAI1_ENST00000457358.2_Silent_p.K225K	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	277					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TTGAAGAAAAAATCAAAAAGA	0.323																																																0													67	74	71					7																	79842142		2203	4294	6497	SO:0001819	synonymous_variant	2770			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.831A>G	chr7.hg19:g.79842142A>G			A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Silent	SNP	ENST00000351004.3	hg19	CCDS5595.1																																																																																				0.323	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		G	79842142	A	G	79842142	2	3	484	1	0	0	0	0	0	0	0	1	6506	11	1	3		3	GNAI1	7	79842142	Silent	SNP	A	TCGA-BQ-7061-01A-11D-1961-08		79842142	79296521	32	26155											
SAMD9	54809	hgsc.bcm.edu	37	7	92734539	92734539	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:92734539T>G	ENST00000379958.2	-	3	1141	c.872A>C	c.(871-873)gAa>gCa	p.E291A		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	291						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTAAAACTTCCACAAATCT	0.353																																																0													122	121	121					7																	92734539		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.872A>C	chr7.hg19:g.92734539T>G	ENSP00000369292:p.Glu291Ala		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372223	0.61624	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.16324	2.35;2.35	4.34	4.34	0.51931	.	0.190136	0.33127	U	0.005253	T	0.20700	0.0498	M	0.73598	2.24	0.30798	N	0.740149	P	0.40970	0.734	B	0.35114	0.196	T	0.33111	-0.9881	10	0.72032	D	0.01	-8.454	12.7423	0.57259	0.0:0.0:0.0:1.0	.	291	Q5K651	SAMD9_HUMAN	A	291	ENSP00000369292:E291A;ENSP00000414529:E291A	ENSP00000369292:E291A	E	-	2	0	SAMD9	92572475	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	2.498000	0.45363	1.948000	0.56530	0.491000	0.48974	GAA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		G	92734539	T	G	92734539	3	3	484	1	0	0	0	0	1	0	0	0	13832	1783	62	5	3901	5	SAMD9	7	92734539	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	12892397	92734539	66404124	33	26156											
SLC26A5	375611	hgsc.bcm.edu	37	7	103029511	103029511	+	Silent	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:103029511A>G	ENST00000306312.3	-	14	1719	c.1458T>C	c.(1456-1458)taT>taC	p.Y486Y	SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393730.1_Silent_p.Y454Y|SLC26A5_ENST00000393735.2_Silent_p.Y486Y|SLC26A5_ENST00000393729.1_Silent_p.Y449Y|SLC26A5_ENST00000432958.2_Silent_p.Y454Y|SLC26A5_ENST00000339444.6_Silent_p.Y486Y|SLC26A5_ENST00000393727.1_Silent_p.Y486Y|SLC26A5_ENST00000393723.1_Silent_p.Y454Y|SLC26A5_ENST00000354356.4_5'UTR	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	486					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TGATCAAACCATAGTCCAATC	0.458																																																0													141	108	119					7																	103029511		2203	4300	6503	SO:0001819	synonymous_variant	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1458T>C	chr7.hg19:g.103029511A>G			Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	hg19	CCDS5733.1																																																																																				0.458	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		G	103029511	A	G	103029511	2	3	484	1	0	0	0	0	0	0	0	1	14526	224	8	3		3	SLC26A5	7	103029511	Silent	SNP	A	TCGA-BQ-7061-01A-11D-1961-08	10294972	103029511	56109152	34	26157											
KIAA1549	57670	hgsc.bcm.edu	37	7	138602963	138602963	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:138602963T>C	ENST00000422774.1	-	2	1457	c.1409A>G	c.(1408-1410)gAc>gGc	p.D470G	KIAA1549_ENST00000440172.1_Missense_Mutation_p.D470G|KIAA1549_ENST00000242365.4_Missense_Mutation_p.D420G			Q9HCM3	K1549_HUMAN	KIAA1549	470						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTCAGAGAAGTCTGCTACGAC	0.483			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0													39	40	40					7																	138602963		2029	4193	6222	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1409A>G	chr7.hg19:g.138602963T>C	ENSP00000416040:p.Asp470Gly		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	hg19	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669378	0.29693	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.41065	1.01;1.03;1.03	4.75	3.59	0.41128	.	0.100076	0.43579	N	0.000548	T	0.26448	0.0646	N	0.20986	0.625	0.20703	N	0.999861	B;B	0.23540	0.053;0.087	B;B	0.23018	0.019;0.043	T	0.14476	-1.0471	10	0.33141	T	0.24	.	8.3927	0.32537	0.0:0.089:0.0:0.911	.	470;470	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	G	470;420;470	ENSP00000406661:D470G;ENSP00000242365:D420G;ENSP00000416040:D470G	ENSP00000242365:D420G	D	-	2	0	KIAA1549	138253503	0.991000	0.36638	0.195000	0.23364	0.070000	0.16714	1.352000	0.34033	0.846000	0.35142	0.533000	0.62120	GAC		0.483	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			C	138602963	T	C	138602963	3	2	484	1	0	0	0	0	1	0	0	0	8246	1667	58	3	4519	3	KIAA1549	7	138602963	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	35573452	138602963	20535700	35	26158											
TMEM176B	28959	hgsc.bcm.edu	37	7	150493608	150493608	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:150493608G>C	ENST00000447204.2	-	2	422	c.50C>G	c.(49-51)cCa>cGa	p.P17R	TMEM176B_ENST00000450753.2_Missense_Mutation_p.P17R|TMEM176B_ENST00000492607.1_Missense_Mutation_p.P17R|TMEM176B_ENST00000429904.2_Missense_Mutation_p.P17R|TMEM176B_ENST00000326442.5_Missense_Mutation_p.P17R|TMEM176B_ENST00000434545.1_Missense_Mutation_p.P17R	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	17				PS -> HA (in Ref. 1; AAD23440). {ECO:0000305}.	cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCTGGGATGGCCTAGAGGC	0.522																																																0													91	82	85					7																	150493608		2203	4300	6503	SO:0001583	missense	28959			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.50C>G	chr7.hg19:g.150493608G>C	ENSP00000410269:p.Pro17Arg		B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	hg19	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	G	4.944	0.175328	0.09391	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.07327	3.35;3.35;3.35;3.35;3.35;3.2	4.92	-6.03	0.02185	.	2.014350	0.02708	N	0.112490	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.37197	-0.9716	10	0.14252	T	0.57	2.0728	0.9199	0.01312	0.193:0.1221:0.2552:0.4297	.	17;17	E9PAV4;Q3YBM2	.;T176B_HUMAN	R	17	ENSP00000419258:P17R;ENSP00000318409:P17R;ENSP00000410269:P17R;ENSP00000413531:P17R;ENSP00000397810:P17R;ENSP00000404831:P17R	ENSP00000318409:P17R	P	-	2	0	TMEM176B	150124541	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.663000	0.05299	-0.721000	0.04929	0.467000	0.42956	CCA		0.522	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		C	150493608	G	C	150493608	3	2	484	1	0	0	0	0	1	0	0	0	16098	1348	47	4	786	4	TMEM176B	7	150493608	Missense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	11890645	150493608	8645055	36	26159											
ZFHX4	79776	hgsc.bcm.edu	37	8	77617295	77617296	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr8:77617295_77617296GA>TT	ENST00000521891.2	+	2	1420_1421	c.972_973GA>TT	c.(970-975)ggGAtt>ggTTtt	p.I325F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.I325F|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I325F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I325F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G324G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAATACAGGGGATTGGCAAAGA	0.441										HNSCC(33;0.089)																																						1	Substitution - coding silent(1)	lung(1)																																								SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	Exception_encountered	chr8.hg19:g.77617295_77617296delinsTT	ENSP00000430497:p.Ile325Phe		G3V138|Q18PS0|Q6ZN20	Silent|Missense_Mutation	SNP	ENST00000521891.2	hg19	CCDS47878.2																																																																																				0.441	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		TT	77617296	GA	TT	77617295	3	4	484	1	0	0	0	0	1	0	0	0	17640	1161	41	4	974	4	ZFHX4	8	77617295	Missense_Mutation	DNP	GA	TCGA-BQ-7061-01A-11D-1961-08		77617295	68746727	37	26160											
ANKRD26	22852	hgsc.bcm.edu	37	10	27349330	27349331	+	In_Frame_Ins	INS	-	-	TCA			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr10:27349330_27349331insTCA	ENST00000376087.4	-	15	1672_1673	c.1507_1508insTGA	c.(1507-1509)aaa>aTGAaa	p.502_503insM	ANKRD26_ENST00000436985.2_In_Frame_Ins_p.518_519insM	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	502					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AACAGAATCTTTCATTTCAATG	0.277																																																0																																										SO:0001652	inframe_insertion	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1505_1507dupTGA	chr10.hg19:g.27349331_27349333dupTCA	ENSP00000365255:p.Met502_Met502dup		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	In_Frame_Ins	INS	ENST00000376087.4	hg19	CCDS41499.1																																																																																				0.277	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			TCA	27349331	-	TCA	27349330	7	5	484	1	0	1	1	0	0	0	0	0	654	1841	64	0	3704	0	ANKRD26	10	27349330	In_Frame_Ins	INS	-	TCGA-BQ-7061-01A-11D-1961-08		27349330	108185417	38	26161											
NCAPD3	23310	hgsc.bcm.edu	37	11	134038822	134038822	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:134038822delG	ENST00000534548.2	-	25	3293	c.3229delC	c.(3229-3231)cagfs	p.Q1077fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1077					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTCTCTGACTGGGGGAACTTG	0.443																																																0													115	107	110					11																	134038822		2201	4297	6498	SO:0001589	frameshift_variant	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3229delC	chr11.hg19:g.134038822delG	ENSP00000433681:p.Gln1077fs		A6NFS2|Q4KMQ9	Frame_Shift_Del	DEL	ENST00000534548.2	hg19	CCDS31723.1																																																																																				0.443	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		-	134038822	G	-	134038822	7	5	484	1	0	1	0	1	0	0	0	0	10208	1357	47	0	1311	0	NCAPD3	11	134038822	Frame_Shift_Del	DEL	G	TCGA-BQ-7061-01A-11D-1961-08		134038822	967694	39	26162											
SLC6A13	6540	hgsc.bcm.edu	37	12	346409	346409	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:346409A>T	ENST00000343164.4	-	6	663	c.611T>A	c.(610-612)cTg>cAg	p.L204Q	SLC6A13_ENST00000445055.2_Missense_Mutation_p.L112Q	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	204					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CTCCCAGCGCAGGGCCCCCAG	0.602																																																0													66	69	68					12																	346409		2203	4300	6503	SO:0001583	missense	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.611T>A	chr12.hg19:g.346409A>T	ENSP00000339260:p.Leu204Gln		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	hg19	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.892851	0.91889	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164;ENST00000546319	T;T;T	0.78003	-1.14;-1.14;-1.14	5.5	5.5	0.81552	.	0.070471	0.64402	D	0.000018	D	0.90428	0.7003	M	0.92317	3.295	0.80722	D	1	D;D;D	0.76494	0.976;0.999;0.996	D;D;D	0.71414	0.964;0.973;0.964	D	0.92683	0.6160	10	0.87932	D	0	.	15.8304	0.78745	1.0:0.0:0.0:0.0	.	112;183;204	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	Q	112;183;204;112	ENSP00000407104:L112Q;ENSP00000339260:L204Q;ENSP00000444606:L112Q	ENSP00000318097:L183Q	L	-	2	0	SLC6A13	216670	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.127000	0.94417	2.322000	0.78497	0.529000	0.55759	CTG		0.602	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		T	346409	A	T	346409	3	4	484	1	0	0	0	0	1	0	0	0	14682	188	7	5	1237	5	SLC6A13	12	346409	Missense_Mutation	SNP	A	TCGA-BQ-7061-01A-11D-1961-08		346409	133505486	40	26163											
ATN1	1822	hgsc.bcm.edu	37	12	7046365	7046365	+	Silent	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:7046365C>G	ENST00000356654.4	+	5	2172	c.1935C>G	c.(1933-1935)tcC>tcG	p.S645S	ATN1_ENST00000396684.2_Silent_p.S645S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	645					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						GAGCCCCGTCCCCGGGGGCCT	0.672																																																0													22	27	25					12																	7046365		2201	4291	6492	SO:0001819	synonymous_variant	1822			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.1935C>G	chr12.hg19:g.7046365C>G			Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	hg19	CCDS31734.1																																																																																				0.672	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		G	7046365	C	G	7046365	2	3	484	1	0	0	0	0	0	0	0	1	1111	610	22	4		4	ATN1	12	7046365	Silent	SNP	C	TCGA-BQ-7061-01A-11D-1961-08	6699956	7046365	126805530	41	26164											
TAS2R13	50838	hgsc.bcm.edu	37	12	11061866	11061866	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:11061866A>C	ENST00000390677.2	-	1	295	c.32T>G	c.(31-33)cTt>cGt	p.L11R	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	11					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AATTATTACAAGAGTGAAGAT	0.388																																																0													39	38	39					12																	11061866		2202	4298	6500	SO:0001583	missense	50838			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.32T>G	chr12.hg19:g.11061866A>C	ENSP00000375095:p.Leu11Arg		Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	ENST00000390677.2	hg19	CCDS8635.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.068962	0.36470	.	.	ENSG00000212128	ENST00000390677	T	0.00922	5.54	3.3	2.14	0.27477	.	0.745999	0.10446	U	0.673619	T	0.02888	0.0086	M	0.76328	2.33	0.09310	N	1	P	0.48834	0.916	P	0.54026	0.74	T	0.42582	-0.9443	10	0.87932	D	0	.	5.1506	0.15007	0.8598:0.0:0.1402:0.0	.	11	Q9NYV9	T2R13_HUMAN	R	11	ENSP00000375095:L11R	ENSP00000375095:L11R	L	-	2	0	TAS2R13	10953133	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.614000	0.24314	0.456000	0.26937	0.533000	0.62120	CTT		0.388	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			C	11061866	A	C	11061866	3	2	484	1	0	0	0	0	1	0	0	0	15572	72	3	5	883	5	TAS2R13	12	11061866	Missense_Mutation	SNP	A	TCGA-BQ-7061-01A-11D-1961-08	4015501	11061866	122790029	42	26165											
DPY19L2	283417	hgsc.bcm.edu	37	12	64041138	64041138	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:64041138A>T	ENST00000324472.4	-	5	779	c.596T>A	c.(595-597)aTa>aAa	p.I199K	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	199					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CCAGGAGGCTATGATTACCTT	0.299																																																0													60	65	63					12																	64041138		2203	4297	6500	SO:0001583	missense	283417				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.596T>A	chr12.hg19:g.64041138A>T	ENSP00000315988:p.Ile199Lys		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	hg19	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378802	0.24944	.	.	ENSG00000177990	ENST00000324472	T	0.56275	0.47	2.35	2.35	0.29111	.	0.184092	0.34828	U	0.003648	T	0.59046	0.2165	M	0.66939	2.045	0.58432	D	0.999995	D	0.53619	0.961	P	0.57009	0.811	T	0.57808	-0.7747	9	.	.	.	.	6.5488	0.22420	1.0:0.0:0.0:0.0	.	199	Q6NUT2	D19L2_HUMAN	K	199	ENSP00000315988:I199K	.	I	-	2	0	DPY19L2	62327405	0.987000	0.35691	0.069000	0.20011	0.326000	0.28443	5.607000	0.67648	1.080000	0.41073	0.155000	0.16302	ATA		0.299	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		T	64041138	A	T	64041138	3	4	484	1	0	0	0	0	1	0	0	0	4743	449	16	5	1752	5	DPY19L2	12	64041138	Missense_Mutation	SNP	A	TCGA-BQ-7061-01A-11D-1961-08	52979272	64041138	69810757	43	26166											
RFX4	5992	hgsc.bcm.edu	37	12	107154995	107154995	+	Silent	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:107154995T>A	ENST00000392842.1	+	18	2370	c.1956T>A	c.(1954-1956)acT>acA	p.T652T	RFX4_ENST00000357881.4_Silent_p.T661T|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.T558T	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	652					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATAGCCCCACTTCCCGGATGG	0.468																																																0													190	205	200					12																	107154995		2203	4300	6503	SO:0001819	synonymous_variant	5992			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1956T>A	chr12.hg19:g.107154995T>A			A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	hg19	CCDS9106.1																																																																																				0.468	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		A	107154995	T	A	107154995	2	1	484	1	0	0	0	0	0	0	0	1	13271	1596	56	5		5	RFX4	12	107154995	Silent	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	43113857	107154995	26696900	44	26167											
NOS1	4842	hgsc.bcm.edu	37	12	117655909	117655909	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:117655909T>C	ENST00000338101.4	-	28	4337	c.4333A>G	c.(4333-4335)Aac>Gac	p.N1445D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.N1411D			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CTAAGGCGGTTGGTCACTTCG	0.498																																					Esophageal Squamous(162;1748 2599 51982 52956)											0													312	309	310					12																	117655909		1986	4167	6153	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4333A>G	chr12.hg19:g.117655909T>C	ENSP00000337459:p.Asn1445Asp			Missense_Mutation	SNP	ENST00000338101.4	hg19	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379742	0.61845	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	T;T	0.01397	4.94;4.99	4.57	4.57	0.56435	.	0.093612	0.85682	D	0.000000	T	0.02342	0.0072	L	0.59436	1.845	0.80722	D	1	P	0.36412	0.552	B	0.35039	0.194	T	0.60393	-0.7272	10	0.38643	T	0.18	-42.2525	14.0843	0.64944	0.0:0.0:0.0:1.0	.	1411	P29475	NOS1_HUMAN	D	1306;1411;1445	ENSP00000320758:N1411D;ENSP00000337459:N1445D	ENSP00000320758:N1411D	N	-	1	0	NOS1	116140292	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.501000	0.81600	1.914000	0.55421	0.459000	0.35465	AAC		0.498	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			C	117655909	T	C	117655909	3	2	484	1	0	0	0	0	1	0	0	0	10543	1812	63	3	81	3	NOS1	12	117655909	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	10500914	117655909	16195986	45	26168											
RIMBP2	23504	hgsc.bcm.edu	37	12	130919339	130919339	+	Silent	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:130919339G>A	ENST00000261655.4	-	11	2305	c.2142C>T	c.(2140-2142)gaC>gaT	p.D714D	RIMBP2_ENST00000536002.1_Silent_p.D622D|RIMBP2_ENST00000535703.1_Silent_p.D622D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	714					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCTCTTGAAGTCTGGAGAGT	0.597																																																0													74	81	79					12																	130919339		2203	4300	6503	SO:0001819	synonymous_variant	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2142C>T	chr12.hg19:g.130919339G>A			Q96ID2	Silent	SNP	ENST00000261655.4	hg19	CCDS31925.1																																																																																				0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		A	130919339	G	A	130919339	2	1	484	1	0	0	0	0	0	0	0	1	13369	1020	36	2		2	RIMBP2	12	130919339	Silent	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	13263430	130919339	2932556	46	26169											
MGA	23269	hgsc.bcm.edu	37	15	42041819	42041837	+	Frame_Shift_Del	DEL	CTAATGTAATAAAACAAAA	CTAATGTAATAAAACAAAA	-	rs373448335		TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	CTAATGTAATAAAACAAAA	CTAATGTAATAAAACAAAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:42041819_42041837delCTAATGTAATAAAACAAAA	ENST00000570161.1	+	16	6014_6032	c.6014_6032delCTAATGTAATAAAACAAAA	c.(6013-6033)gctaatgtaataaaacaaaacfs	p.ANVIKQN2005fs	MGA_ENST00000389936.4_Frame_Shift_Del_p.ANVIKQN1966fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.ANVIKQN1796fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.ANVIKQN2005fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.ANVIKQN1796fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCCTGAGGCTAATGTAATAAAACAAAACTCAGGAGCT	0.416																																																0																																										SO:0001589	frameshift_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6014_6032delCTAATGTAATAAAACAAAA	chr15.hg19:g.42041819_42041837delCTAATGTAATAAAACAAAA	ENSP00000457035:p.Ala2005fs		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	hg19	CCDS55959.1																																																																																				0.416	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		-	42041837	CTAATGTAATAAAACAAAA	-	42041819	7	5	484	1	0	1	0	1	0	0	0	0	9542	797	28	0	6076	0	MGA	15	42041819	Frame_Shift_Del	DEL	CTAATGTAATAAAACAAAA	TCGA-BQ-7061-01A-11D-1961-08		42041819	60489573	47	26170											
TP53BP1	7158	hgsc.bcm.edu	37	15	43749140	43749140	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:43749140T>A	ENST00000263801.3	-	12	1903	c.1651A>T	c.(1651-1653)Atg>Ttg	p.M551L	TP53BP1_ENST00000382044.4_Missense_Mutation_p.M556L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.M556L|TP53BP1_ENST00000382039.3_Missense_Mutation_p.M556L|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	551					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACTGGAGACATGGGTTCCGTA	0.403								Other conserved DNA damage response genes																																								0													152	135	141					15																	43749140		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1651A>T	chr15.hg19:g.43749140T>A	ENSP00000263801:p.Met551Leu		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	hg19	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	4.082	0.013103	0.07912	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.04	1.11	0.20524	.	0.534882	0.20646	N	0.088301	T	0.09730	0.0239	L	0.36672	1.1	0.19775	N	0.999951	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.37361	-0.9709	10	0.10377	T	0.69	-0.7027	5.1031	0.14770	0.3274:0.0823:0.0:0.5903	.	556;551;556;556	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	L	551;556;556;556;556	ENSP00000263801:M551L;ENSP00000371475:M556L;ENSP00000371470:M556L;ENSP00000393497:M556L;ENSP00000388028:M556L	ENSP00000263801:M551L	M	-	1	0	TP53BP1	41536432	0.005000	0.15991	0.993000	0.49108	0.768000	0.43524	0.173000	0.16724	0.321000	0.23259	-0.371000	0.07208	ATG		0.403	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			A	43749140	T	A	43749140	3	1	484	1	0	0	0	0	1	0	0	0	16388	1464	51	5	4335	5	TP53BP1	15	43749140	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	1707321	43749140	58782252	48	26171											
MYO1E	4643	hgsc.bcm.edu	37	15	59501015	59501015	+	Silent	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:59501015G>A	ENST00000288235.4	-	14	1794	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	465	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGGCGCACACGTCATCCAGGA	0.542																																																0													118	99	105					15																	59501015		2191	4290	6481	SO:0001819	synonymous_variant	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1395C>T	chr15.hg19:g.59501015G>A			Q14778	Silent	SNP	ENST00000288235.4	hg19	CCDS32254.1																																																																																				0.542	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		A	59501015	G	A	59501015	2	1	484	1	0	0	0	0	0	0	0	1	10074	1136	40	1		1	MYO1E	15	59501015	Silent	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	15751875	59501015	43030377	49	26172											
TLN2	83660	hgsc.bcm.edu	37	15	63011987	63011987	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:63011987C>G	ENST00000561311.1	+	24	3129	c.2899C>G	c.(2899-2901)Cag>Gag	p.Q967E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q967E			Q9Y4G6	TLN2_HUMAN	talin 2	967	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCACATCCCTCAGCTGGTCCA	0.547																																																0													65	51	56					15																	63011987		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2899C>G	chr15.hg19:g.63011987C>G	ENSP00000453508:p.Gln967Glu		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	hg19	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050280	0.55218	.	.	ENSG00000171914	ENST00000306829	T	0.67865	-0.29	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	L	0.47716	1.5	0.80722	D	1	B	0.24882	0.113	B	0.25987	0.065	T	0.56745	-0.7928	10	0.22706	T	0.39	-16.8653	19.9103	0.97024	0.0:1.0:0.0:0.0	.	967	Q9Y4G6	TLN2_HUMAN	E	967	ENSP00000303476:Q967E	ENSP00000303476:Q967E	Q	+	1	0	TLN2	60799279	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.887000	0.63156	2.765000	0.95021	0.650000	0.86243	CAG		0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			G	63011987	C	G	63011987	3	3	484	1	0	0	0	0	1	0	0	0	15953	827	29	4	2985	4	TLN2	15	63011987	Missense_Mutation	SNP	C	TCGA-BQ-7061-01A-11D-1961-08	3510972	63011987	39519405	50	26173											
RASGRF1	5923	hgsc.bcm.edu	37	15	79264261	79264261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:79264261G>A	ENST00000419573.3	-	27	3950	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.R1210*|RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.R442*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1226	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGAATCTCTCGGATAATATGG	0.473																																																0													268	228	242					15																	79264261		2196	4293	6489	SO:0001587	stop_gained	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3676C>T	chr15.hg19:g.79264261G>A	ENSP00000405963:p.Arg1226*		F8VPA5|H0YKF2|J3KQP9|Q16027	Nonsense_Mutation	SNP	ENST00000419573.3	hg19	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	42	9.264118	0.99118	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	.	.	.	4.23	3.23	0.37069	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9463	0.47301	0.0:0.0:0.8013:0.1987	.	.	.	.	X	1226;1210;442	.	ENSP00000378224:R1210X	R	-	1	2	RASGRF1	77051316	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	1.206000	0.32321	2.169000	0.68431	0.561000	0.74099	CGA		0.473	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		A	79264261	G	A	79264261	4	1	484	1	0	0	0	0	0	1	0	0	13078	1124	39	1	153	1	RASGRF1	15	79264261	Nonsense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08	16252274	79264261	23267131	51	26174											
C16orf62	57020	hgsc.bcm.edu	37	16	19711796	19711797	+	Stop_Codon_Ins	INS	-	-	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:19711796_19711797insG	ENST00000251143.5	+	0	2902_2903				C16orf62_ENST00000448695.1_Stop_Codon_Ins|C16orf62_ENST00000542263.1_Stop_Codon_Ins|C16orf62_ENST00000543152.1_Stop_Codon_Ins|C16orf62_ENST00000438132.3_Stop_Codon_Ins|C16orf62_ENST00000417362.2_Stop_Codon_Ins			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AACAAGGACCTGACCCCCGGGC	0.51																																																0																																										SO:0001567	stop_retained_variant	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2890dupG	chr16.hg19:g.19711797_19711797dupG	ENSP00000251143:p.*964Trpext*54		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Frame_Shift_Ins	INS	ENST00000251143.5	hg19																																																																																					0.51	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		G	19711797	-	G	19711796	7	5	484	1	0	1	1	0	0	0	0	0	1827	1593	55	0	3012	0	C16orf62	16	19711796	Stop_Codon_Ins	INS	-	TCGA-BQ-7061-01A-11D-1961-08		19711796	70642957	52	26175											
ZP2	7783	hgsc.bcm.edu	37	16	21215430	21215430	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:21215430T>A	ENST00000574002.1	-	10	1375	c.893A>T	c.(892-894)cAg>cTg	p.Q298L	ZP2_ENST00000219593.4_Missense_Mutation_p.Q298L|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.Q298L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	298					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCATGCAGCTGGCTCACATC	0.428																																																0													161	137	145					16																	21215430		2200	4300	6500	SO:0001583	missense	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.893A>T	chr16.hg19:g.21215430T>A	ENSP00000460971:p.Gln298Leu		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	hg19	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.233434	0.39498	.	.	ENSG00000103310	ENST00000219593	T	0.78816	-1.21	6.08	3.74	0.42951	.	0.574315	0.17910	N	0.157889	D	0.84938	0.5583	M	0.73962	2.25	0.09310	N	1	D;B;B	0.89917	1.0;0.223;0.223	D;B;B	0.91635	0.999;0.143;0.053	T	0.73563	-0.3943	10	0.28530	T	0.3	-5.929	9.6718	0.40017	0.1165:0.0:0.1209:0.7626	.	298;298;298	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	L	298	ENSP00000219593:Q298L	ENSP00000219593:Q298L	Q	-	2	0	ZP2	21122931	0.975000	0.34042	0.255000	0.24374	0.042000	0.13812	2.912000	0.48782	2.330000	0.79161	0.533000	0.62120	CAG		0.428	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			A	21215430	T	A	21215430	3	1	484	1	0	0	0	0	1	0	0	0	18221	1580	55	5	1388	5	ZP2	16	21215430	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	1503634	21215430	69139323	53	26176											
FOXC2	2303	hgsc.bcm.edu	37	16	86601010	86601010	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:86601010T>G	ENST00000320354.4	+	1	154	c.69T>G	c.(67-69)aaT>aaG	p.N23K	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	23					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GCGAGCAGAATTACTACCGGG	0.701									Late-onset Hereditary Lymphedema																																							0													34	38	37					16																	86601010		2196	4296	6492	SO:0001583	missense	2303	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.69T>G	chr16.hg19:g.86601010T>G	ENSP00000326371:p.Asn23Lys		C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	hg19	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618182	0.66787	.	.	ENSG00000176692	ENST00000320354	D	0.94862	-3.54	3.49	-4.32	0.03688	.	0.351583	0.22692	U	0.056809	D	0.91768	0.7396	L	0.46157	1.445	0.37017	D	0.896014	P	0.47409	0.895	P	0.47573	0.55	D	0.88376	0.2998	10	0.39692	T	0.17	.	14.3409	0.66624	0.0:0.8175:0.0:0.1825	.	23	Q99958	FOXC2_HUMAN	K	23	ENSP00000326371:N23K	ENSP00000326371:N23K	N	+	3	2	FOXC2	85158511	0.974000	0.33945	0.948000	0.38648	0.973000	0.67179	0.371000	0.20450	-1.237000	0.02539	-0.689000	0.03729	AAT		0.701	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		G	86601010	T	G	86601010	3	3	484	1	0	0	0	0	1	0	0	0	5997	1490	52	5	71	5	FOXC2	16	86601010	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	65385580	86601010	3753743	54	26177											
TSR1	55720	hgsc.bcm.edu	37	17	2232753	2232753	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:2232753A>T	ENST00000301364.5	-	11	2866	c.1787T>A	c.(1786-1788)aTg>aAg	p.M596K	SNORD91A_ENST00000390861.1_RNA|SNORD91B_ENST00000391250.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	596					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCTCACCACCATATTCAATAC	0.438																																																0													89	80	83					17																	2232753		2203	4300	6503	SO:0001583	missense	55720			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1787T>A	chr17.hg19:g.2232753A>T	ENSP00000301364:p.Met596Lys		Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	hg19	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337499	0.60963	.	.	ENSG00000167721	ENST00000301364	T	0.18016	2.24	5.34	5.34	0.76211	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.225116	0.52532	D	0.000063	T	0.23649	0.0572	M	0.69185	2.1	0.53688	D	0.999979	B	0.25667	0.131	B	0.29440	0.102	T	0.02533	-1.1145	10	0.54805	T	0.06	-17.0729	14.4964	0.67691	1.0:0.0:0.0:0.0	.	596	Q2NL82	TSR1_HUMAN	K	596	ENSP00000301364:M596K	ENSP00000301364:M596K	M	-	2	0	TSR1	2179503	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.017000	0.93651	2.014000	0.59158	0.459000	0.35465	ATG		0.438	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		T	2232753	A	T	2232753	3	4	484	1	0	0	0	0	1	0	0	0	16669	217	8	5	647	5	TSR1	17	2232753	Missense_Mutation	SNP	A	TCGA-BQ-7061-01A-11D-1961-08		2232753	78962457	55	26178											
PITPNM3	83394	hgsc.bcm.edu	37	17	6375990	6375990	+	Silent	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:6375990C>T	ENST00000262483.8	-	11	1503	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q	PITPNM3_ENST00000421306.3_Silent_p.Q436Q|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	472	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGAGGAGGGACTGCCCATCGC	0.652																																																0													57	57	57					17																	6375990		2202	4300	6502	SO:0001819	synonymous_variant	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1416G>A	chr17.hg19:g.6375990C>T			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	hg19	CCDS11076.1																																																																																				0.652	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		T	6375990	C	T	6375990	2	4	484	1	0	0	0	0	0	0	0	1	11954	564	20	2		2	PITPNM3	17	6375990	Silent	SNP	C	TCGA-BQ-7061-01A-11D-1961-08	4143237	6375990	74819220	56	26179											
ST6GALNAC2	10610	hgsc.bcm.edu	37	17	74570497	74570497	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:74570497C>T	ENST00000225276.5	-	3	630	c.311G>A	c.(310-312)cGc>cAc	p.R104H	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	104					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TTGGCTCAGGCGGTCCCAGAG	0.637																																																0													38	35	36					17																	74570497		2203	4300	6503	SO:0001583	missense	10610			U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"Sialyltransferases"	10867	protein-coding gene	gene with protein product		610137	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)", "sialyltransferase-like 1"	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.311G>A	chr17.hg19:g.74570497C>T	ENSP00000225276:p.Arg104His		Q12971	Missense_Mutation	SNP	ENST00000225276.5	hg19	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	c	14.90	2.674158	0.47781	.	.	ENSG00000070731	ENST00000225276	T	0.32272	1.46	4.47	-0.561	0.11785	.	0.749066	0.12928	N	0.427572	T	0.24392	0.0591	L	0.55017	1.72	0.18873	N	0.999984	B	0.29301	0.241	B	0.25884	0.064	T	0.19353	-1.0308	10	0.56958	D	0.05	-1.9719	6.7032	0.23236	0.0:0.3692:0.0:0.6308	.	104	Q9UJ37	SIA7B_HUMAN	H	104	ENSP00000225276:R104H	ENSP00000225276:R104H	R	-	2	0	ST6GALNAC2	72082092	0.001000	0.12720	0.960000	0.40013	0.859000	0.49053	0.361000	0.20267	0.093000	0.17368	-0.258000	0.10820	CGC		0.637	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		T	74570497	C	T	74570497	3	4	484	1	0	0	0	0	1	0	0	0	15229	768	27	1	841	1	ST6GALNAC2	17	74570497	Missense_Mutation	SNP	C	TCGA-BQ-7061-01A-11D-1961-08	68194507	74570497	6624713	57	26180											
ZNF564	163050	hgsc.bcm.edu	37	19	12639496	12639497	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:12639496_12639497delAG	ENST00000339282.7	-	2	213_214	c.17_18delCT	c.(16-18)tctfs	p.S6fs	CTD-2192J16.20_ENST00000593682.1_3'UTR|CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	6	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCACATCCTCAGAGGCCACTGA	0.45																																																0																																										SO:0001589	frameshift_variant	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.17_18delCT	chr19.hg19:g.12639498_12639499delAG	ENSP00000340004:p.Ser6fs		B9EGT4|Q6P1K6	Frame_Shift_Del	DEL	ENST00000339282.7	hg19	CCDS42505.1																																																																																				0.45	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		-	12639497	AG	-	12639496	7	5	484	1	0	1	0	1	0	0	0	0	18000	175	7	0	1655	0	ZNF564	19	12639496	Frame_Shift_Del	DEL	AG	TCGA-BQ-7061-01A-11D-1961-08		12639496	46489487	58	26181											
TRMT1	55621	hgsc.bcm.edu	37	19	13226494	13226494	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:13226494T>A	ENST00000592062.1	-	5	969	c.399A>T	c.(397-399)gaA>gaT	p.E133D	TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000221504.8_Missense_Mutation_p.E133D|NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000357720.4_Missense_Mutation_p.E133D|TRMT1_ENST00000437766.1_Missense_Mutation_p.E133D			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	133	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGGCCAGGTTTTCACTCTCTT	0.572																																																0													166	168	168					19																	13226494		2203	4300	6503	SO:0001583	missense	55621			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.399A>T	chr19.hg19:g.13226494T>A	ENSP00000466967:p.Glu133Asp		O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	hg19	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	T	9.755	1.168481	0.21621	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	3.89	2.82	0.32997	.	0.227351	0.35677	N	0.003045	T	0.31979	0.0814	N	0.19112	0.55	0.36296	D	0.856722	B;B	0.09022	0.001;0.002	B;B	0.08055	0.002;0.003	T	0.18650	-1.0330	9	0.17369	T	0.5	-2.7274	8.7051	0.34349	0.0:0.0:0.1926:0.8074	.	133;133	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	D	133	.	ENSP00000221504:E133D	E	-	3	2	TRMT1	13087494	0.311000	0.24536	0.324000	0.25361	0.593000	0.36681	1.442000	0.35046	0.797000	0.33971	0.460000	0.39030	GAA		0.572	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		A	13226494	T	A	13226494	3	1	484	1	0	0	0	0	1	0	0	0	16566	1838	64	5	1636	5	TRMT1	19	13226494	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	586998	13226494	45902489	59	26182											
SIN3B	23309	hgsc.bcm.edu	37	19	16964967	16964967	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:16964967T>C	ENST00000248054.5	+	8	974	c.953T>C	c.(952-954)cTg>cCg	p.L318P	SIN3B_ENST00000596802.1_Missense_Mutation_p.L318P|SIN3B_ENST00000379803.1_Missense_Mutation_p.L318P					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGCCGGGTGCTGAAGAGCCAG	0.597																																																0													56	53	54					19																	16964967		2203	4300	6503	SO:0001583	missense	23309			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.953T>C	chr19.hg19:g.16964967T>C	ENSP00000248054:p.Leu318Pro			Missense_Mutation	SNP	ENST00000248054.5	hg19		.	.	.	.	.	.	.	.	.	.	T	21.4	4.138166	0.77775	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.63580	-0.05;0.13	5.19	5.19	0.71726	.	0.064314	0.64402	D	0.000004	D	0.83275	0.5219	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.987;0.988	D	0.87560	0.2471	10	0.87932	D	0	-38.9141	14.2256	0.65858	0.0:0.0:0.0:1.0	.	318;318;318	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	P	318	ENSP00000369131:L318P;ENSP00000248054:L318P	ENSP00000248054:L318P	L	+	2	0	SIN3B	16825967	1.000000	0.71417	0.993000	0.49108	0.870000	0.49936	7.837000	0.86796	1.958000	0.56883	0.459000	0.35465	CTG		0.597	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		C	16964967	T	C	16964967	3	2	484	1	0	0	0	0	1	0	0	0	14332	1580	55	3	983	3	SIN3B	19	16964967	Missense_Mutation	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	3738473	16964967	42164016	60	26183											
LSR	51599	hgsc.bcm.edu	37	19	35757260	35757260	+	Splice_Site	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:35757260A>G	ENST00000361790.3	+	6	1081		c.e6-1		USF2_ENST00000594064.1_5'Flank|LSR_ENST00000427250.1_Splice_Site|LSR_ENST00000354900.3_Splice_Site|LSR_ENST00000347609.4_Splice_Site|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000602122.1_Splice_Site|USF2_ENST00000222305.3_5'Flank|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000360798.3_Splice_Site|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000595068.1_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor						embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTGTCCTCACAGTGTATGCCG	0.627																																																0													76	78	77					19																	35757260		2203	4300	6503	SO:0001630	splice_region_variant	51599			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.923-1A>G	chr19.hg19:g.35757260A>G			A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Splice_Site	SNP	ENST00000361790.3	hg19	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.029984	0.35797	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	.	.	.	3.99	2.94	0.34122	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7508	0.28896	0.8124:0.0:0.0:0.1876	.	.	.	.	.	-1	.	.	.	+	.	.	LSR	40449100	1.000000	0.71417	0.489000	0.27452	0.523000	0.34469	7.126000	0.77201	0.540000	0.28808	0.379000	0.24179	.		0.627	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	Intron	G	35757260	A	G	35757260	5	3	484	1	0	0	0	0	0	0	1	0	9066	202	7	3	943	3	LSR	19	35757260	Splice_Site	SNP	A	TCGA-BQ-7061-01A-11D-1961-08	18792293	35757260	23371723	61	26184											
ZSCAN4	201516	hgsc.bcm.edu	37	19	58187881	58187881	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:58187881C>G	ENST00000318203.5	+	3	1065	c.368C>G	c.(367-369)aCt>aGt	p.T123S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	123	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGACCTGACTGATGACAGC	0.418																																																0													83	81	81					19																	58187881		2203	4300	6503	SO:0001583	missense	201516			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"-", "Zinc fingers, C2H2-type"	23709	protein-coding gene	gene with protein product		613419	"zinc finger protein 494"	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.368C>G	chr19.hg19:g.58187881C>G	ENSP00000321963:p.Thr123Ser		Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	hg19	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114797	0.20795	.	.	ENSG00000180532	ENST00000318203	T	0.04317	3.65	4.42	-8.83	0.00806	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (1);	1.418230	0.04476	N	0.376945	T	0.04363	0.0120	L	0.53671	1.685	0.09310	N	1	B	0.14805	0.011	B	0.22386	0.039	T	0.40021	-0.9585	10	0.11794	T	0.64	0.036	5.2622	0.15580	0.3993:0.1301:0.3976:0.073	.	123	Q8NAM6	ZSCA4_HUMAN	S	123	ENSP00000321963:T123S	ENSP00000321963:T123S	T	+	2	0	ZSCAN4	62879693	0.006000	0.16342	0.000000	0.03702	0.016000	0.09150	-0.007000	0.12810	-2.018000	0.00943	-0.140000	0.14226	ACT		0.418	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		G	58187881	C	G	58187881	3	3	484	1	0	0	0	0	1	0	0	0	18242	565	20	4	370	4	ZSCAN4	19	58187881	Missense_Mutation	SNP	C	TCGA-BQ-7061-01A-11D-1961-08	22430621	58187881	941102	62	26185											
ENTPD6	955	hgsc.bcm.edu	37	20	25198149	25198149	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr20:25198149G>C	ENST00000376652.4	+	9	973	c.810G>C	c.(808-810)caG>caC	p.Q270H	ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q270H|Y_RNA_ENST00000365544.1_RNA|ENTPD6_ENST00000360031.2_Missense_Mutation_p.Q269H|ENTPD6_ENST00000354989.5_Missense_Mutation_p.Q253H			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	270					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GCACCCTGCAGGCCTCCCCAC	0.537																																																0													93	91	92					20																	25198149		2203	4300	6503	SO:0001583	missense	955			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.810G>C	chr20.hg19:g.25198149G>C	ENSP00000365840:p.Gln270His		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	hg19	CCDS13170.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	7.510|7.510|7.510	0.654527|0.654527|0.654527	0.14580|0.14580|0.14580	.|.|.	.|.|.	ENSG00000197586|ENSG00000197586|ENSG00000197586	ENST00000376666|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000425813|ENST00000433417;ENST00000427553;ENST00000447877	.|T;T;T;T;T;T;T|.	.|0.11495|.	.|2.77;2.77;2.77;2.77;2.77;2.77;2.77|.	5.71|5.71|5.71	2.69|2.69|2.69	0.31865|0.31865|0.31865	.|.|.	.|0.866486|.	.|0.10745|.	.|N|.	.|0.638962|.	T|T|T	0.51686|0.51686|0.51686	0.1689|0.1689|0.1689	L|L|L	0.58925|0.58925|0.58925	1.835|1.835|1.835	0.33639|0.33639|0.33639	D|D|D	0.607014|0.607014|0.607014	.|B;B;B;B;B;B;B;B;B|.	.|0.20459|.	.|0.004;0.045;0.045;0.027;0.045;0.004;0.006;0.022;0.012|.	.|B;B;B;B;B;B;B;B;B|.	.|0.30105|.	.|0.021;0.076;0.076;0.049;0.111;0.029;0.033;0.037;0.037|.	T|T|T	0.58047|0.58047|0.58047	-0.7705|-0.7705|-0.7705	5|10|5	.|0.46703|.	.|T|.	.|0.11|.	-8.1099|-8.1099|-8.1099	5.5882|5.5882|5.5882	0.17287|0.17287|0.17287	0.1474:0.0:0.5745:0.2781|0.1474:0.0:0.5745:0.2781|0.1474:0.0:0.5745:0.2781	.|.|.	.|52;252;270;270;270;253;269;269;270|.	.|B4DHS2;B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354|.	.|.;.;.;.;.;.;.;.;ENTP6_HUMAN|.	R|H|T	94|253;269;190;166;270;252;204;270;222|191;128;163	.|ENSP00000347084:Q253H;ENSP00000353131:Q269H;ENSP00000365840:Q270H;ENSP00000408098:Q252H;ENSP00000395064:Q204H;ENSP00000401895:Q270H;ENSP00000390646:Q222H|.	.|ENSP00000347084:Q253H|.	G|Q|R	+|+|+	1|3|2	0|2|0	ENTPD6|ENTPD6|ENTPD6	25146149|25146149|25146149	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.038000|0.038000|0.038000	0.18304|0.18304|0.18304	0.058000|0.058000|0.058000	0.15608|0.15608|0.15608	1.836000|1.836000|1.836000	0.39191|0.39191|0.39191	0.346000|0.346000|0.346000	0.23899|0.23899|0.23899	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GGC|CAG|AGG		0.537	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			C	25198149	G	C	25198149	3	2	484	1	0	0	0	0	1	0	0	0	5145	991	35	4	847	4	ENTPD6	20	25198149	Missense_Mutation	SNP	G	TCGA-BQ-7061-01A-11D-1961-08		25198149	37827371	63	26186											
GSPT2	23708	hgsc.bcm.edu	37	X	51486959	51486960	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:51486959_51486960GC>TT	ENST00000340438.4	+	1	479_480	c.237_238GC>TT	c.(235-240)ccGCcc>ccTTcc	p.P80S		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	80					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CGACTCAGCCGCCCACCCTCCC	0.658																																																0																																										SO:0001583	missense	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	Exception_encountered	chrX.hg19:g.51486959_51486960delinsTT	ENSP00000341247:p.Pro80Ser		Q9H909|Q9NVY0|Q9NY44	Silent|Missense_Mutation	SNP	ENST00000340438.4	hg19	CCDS14336.1																																																																																				0.658	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			TT	51486960	GC	TT	51486959	3	4	484	1	0	0	0	0	1	0	0	0	6829	1074	38	4	239	4	GSPT2	23	51486959	Missense_Mutation	DNP	GC	TCGA-BQ-7061-01A-11D-1961-08		51486959	103783601	64	26187											
LAS1L	81887	hgsc.bcm.edu	37	X	64749564	64749564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:64749564C>A	ENST00000374811.3	-	5	749	c.709G>T	c.(709-711)Gag>Tag	p.E237*	LAS1L_ENST00000374807.5_Nonsense_Mutation_p.E237*|LAS1L_ENST00000374804.5_Nonsense_Mutation_p.E195*|LAS1L_ENST00000312391.8_Nonsense_Mutation_p.E237*	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	237					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ACATCTGACTCCGTACTTTTC	0.453																																																0													219	177	191					X																	64749564		2203	4300	6503	SO:0001587	stop_gained	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.709G>T	chrX.hg19:g.64749564C>A	ENSP00000363944:p.Glu237*		A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Nonsense_Mutation	SNP	ENST00000374811.3	hg19	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371792	0.42003	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.18	4.29	0.51040	.	0.478134	0.21197	N	0.078537	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.8918	0.47000	0.0:0.8136:0.1864:0.0	.	.	.	.	X	237;237;195;237	.	ENSP00000308649:E237X	E	-	1	0	LAS1L	64666289	0.369000	0.25039	0.062000	0.19696	0.007000	0.05969	1.842000	0.39250	1.194000	0.43101	0.600000	0.82982	GAG		0.453	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		A	64749564	C	A	64749564	4	1	484	1	0	0	0	0	0	1	0	0	8638	864	30	4	1535	4	LAS1L	23	64749564	Nonsense_Mutation	SNP	C	TCGA-BQ-7061-01A-11D-1961-08	13262605	64749564	90520996	65	26188											
KIF4A	24137	hgsc.bcm.edu	37	X	69637856	69637856	+	Splice_Site	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:69637856T>C	ENST00000374403.3	+	29	3454		c.e29+2			NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A						anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAAGGCAAGGTAGGATCAGGG	0.537																																																0													139	96	111					X																	69637856		2203	4300	6503	SO:0001630	splice_region_variant	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.3372+2T>C	chrX.hg19:g.69637856T>C			B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Splice_Site	SNP	ENST00000374403.3	hg19	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	t	12.71	2.020554	0.35606	.	.	ENSG00000090889	ENST00000374403;ENST00000544650	.	.	.	5.3	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5846	0.27985	0.0:0.0:0.2369:0.7631	.	.	.	.	.	-1	.	.	.	+	.	.	KIF4A	69554581	1.000000	0.71417	0.998000	0.56505	0.414000	0.31173	2.056000	0.41355	1.974000	0.57490	0.427000	0.28365	.		0.537	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	Intron	C	69637856	T	C	69637856	5	2	484	1	0	0	0	0	0	0	1	0	8305	1652	57	3	3484	3	KIF4A	23	69637856	Splice_Site	SNP	T	TCGA-BQ-7061-01A-11D-1961-08	4888292	69637856	85632704	66	26189											
SLITRK2	84631	hgsc.bcm.edu	37	X	144904633	144904634	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:144904633_144904634GC>CT	ENST00000370490.1	+	1	4945_4946	c.690_691GC>CT	c.(688-693)tgGCta>tgCTta	p.W230C	SLITRK2_ENST00000428560.2_Missense_Mutation_p.W230C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.W230C|SLITRK2_ENST00000434188.2_Missense_Mutation_p.W230C|SLITRK2_ENST00000413937.2_Missense_Mutation_p.W230C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	230	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGGCCTGGCTAGACACCAT	0.49																																																0																																										SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	Exception_encountered	chrX.hg19:g.144904633_144904634delinsCT	ENSP00000359521:p.Trp230Cys		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation|Silent	SNP	ENST00000370490.1	hg19	CCDS14680.1																																																																																				0.49	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		CT	144904634	GC	CT	144904633	3	2	484	1	0	0	0	0	1	0	0	0	14749	1212	42	4	692	4	SLITRK2	23	144904633	Missense_Mutation	DNP	GC	TCGA-BQ-7061-01A-11D-1961-08	75266777	144904633	10365927	67	26190											
NADK	65220	hgsc.bcm.edu	37	1	1686870	1686870	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:1686870A>T	ENST00000341426.5	-	7	852	c.631T>A	c.(631-633)Ttc>Atc	p.F211I	NADK_ENST00000342348.5_Missense_Mutation_p.F179I|NADK_ENST00000341991.3_Missense_Mutation_p.F211I|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Missense_Mutation_p.F356I|NADK_ENST00000344463.4_Missense_Mutation_p.F356I	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	211					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGGGTCAGGAAGCCCAGGGAG	0.607																																																0													156	158	157					1																	1686870		2203	4300	6503	SO:0001583	missense	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.631T>A	chr1.hg19:g.1686870A>T	ENSP00000341679:p.Phe211Ile		A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	hg19	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	A	33	5.256937	0.95336	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	5.25	5.25	0.73442	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	D	0.84502	0.5486	H	0.98199	4.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.997;0.995;0.994	D	0.90129	0.4205	10	0.87932	D	0	-34.481	14.2701	0.66147	1.0:0.0:0.0:0.0	.	179;356;356;211	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	I	211;211;356;356;179;179	ENSP00000341679:F211I;ENSP00000344340:F211I;ENSP00000367890:F356I;ENSP00000340925:F356I;ENSP00000339727:F179I;ENSP00000383713:F179I	ENSP00000341679:F211I	F	-	1	0	NADK	1676730	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.884000	0.92432	2.119000	0.64992	0.379000	0.24179	TTC		0.607	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		T	1686870	A	T	1686870	3	4	485	1	0	0	0	0	1	0	0	0	10139	72	3	5	733	5	NADK	1	1686870	Missense_Mutation	SNP	A	TCGA-BQ-7062-01A-11D-1961-08		1686870	247563751	1	26191											
RPL11	6135	hgsc.bcm.edu	37	1	24021204	24021204	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:24021204T>G	ENST00000374550.3	+	4	364	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	107					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AAACTTTGGTTTTGGGATCCA	0.403																																																0													146	143	144					1																	24021204		2203	4300	6503	SO:0001583	missense	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.319T>G	chr1.hg19:g.24021204T>G	ENSP00000363676:p.Phe107Val		P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	hg19	CCDS238.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.400589	0.83120	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	D;D;D	0.82344	-1.6;-1.6;-1.6	5.85	5.85	0.93711	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	H	0.96301	3.8	0.80722	D	1	P;P	0.52061	0.938;0.95	D;D	0.80764	0.974;0.994	D	0.95729	0.8773	10	0.87932	D	0	-9.5649	16.233	0.82357	0.0:0.0:0.0:1.0	.	106;107	P62913-2;P62913	.;RL11_HUMAN	V	107;105;105	ENSP00000363676:F107V;ENSP00000390839:F105V;ENSP00000398888:F105V	ENSP00000363676:F107V	F	+	1	0	RPL11	23893791	1.000000	0.71417	0.993000	0.49108	0.476000	0.33039	7.874000	0.87199	2.239000	0.73571	0.529000	0.55759	TTT		0.403	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		G	24021204	T	G	24021204	3	3	485	1	0	0	0	0	1	0	0	0	13563	1841	64	5	333	5	RPL11	1	24021204	Missense_Mutation	SNP	T	TCGA-BQ-7062-01A-11D-1961-08	22334334	24021204	225229417	2	26192											
ZSCAN20	7579	hgsc.bcm.edu	37	1	33956714	33956714	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:33956714A>G	ENST00000361328.3	+	6	1009	c.856A>G	c.(856-858)Agc>Ggc	p.S286G	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.S232G	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	286					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGGAAAAGGAGCACTGCAGA	0.468																																																0													55	55	55					1																	33956714		1886	4113	5999	SO:0001583	missense	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.856A>G	chr1.hg19:g.33956714A>G	ENSP00000355053:p.Ser286Gly		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	hg19	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	6.309	0.425166	0.11987	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.02140	4.43	5.64	3.3	0.37823	.	1.076990	0.06981	N	0.819956	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29988	0.0;0.264;0.0	B;B;B	0.28011	0.001;0.085;0.0	T	0.50583	-0.8811	10	0.26408	T	0.33	-4.0623	5.892	0.18919	0.7468:0.1676:0.0855:0.0	.	286;232;286	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	G	232;286;232;220;220	ENSP00000362512:S232G	ENSP00000324450:S286G	S	+	1	0	ZSCAN20	33729301	0.934000	0.31675	0.009000	0.14445	0.304000	0.27724	1.295000	0.33377	0.495000	0.27882	0.533000	0.62120	AGC		0.468	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		G	33956714	A	G	33956714	3	3	485	1	0	0	0	0	1	0	0	0	18237	304	11	3	874	3	ZSCAN20	1	33956714	Missense_Mutation	SNP	A	TCGA-BQ-7062-01A-11D-1961-08	9935510	33956714	215293907	3	26193											
LMO4	8543	hgsc.bcm.edu	37	1	87805263	87805263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:87805263delT	ENST00000370544.5	+	3	1061	c.281delT	c.(280-282)attfs	p.I94fs	LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Frame_Shift_Del_p.I94fs	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	94	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GGACAGTCGATTCCTGCGAGT	0.388																																																0													95	95	95					1																	87805263		2203	4300	6503	SO:0001589	frameshift_variant	8543			U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.281delT	chr1.hg19:g.87805263delT	ENSP00000359575:p.Ile94fs		D3DT23|O00158|O88894	Frame_Shift_Del	DEL	ENST00000370544.5	hg19	CCDS713.1																																																																																				0.388	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2	NM_006769		-	87805263	T	-	87805263	7	5	485	1	0	1	0	1	0	0	0	0	8856	1493	52	0	287	0	LMO4	1	87805263	Frame_Shift_Del	DEL	T	TCGA-BQ-7062-01A-11D-1961-08	53848549	87805263	161445358	4	26194											
ZBTB37	84614	hgsc.bcm.edu	37	1	173839638	173839638	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:173839638T>C	ENST00000367701.5	+	2	466	c.275T>C	c.(274-276)aTa>aCa	p.I92T	ZBTB37_ENST00000432989.1_Missense_Mutation_p.I92T|GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367702.1_Missense_Mutation_p.I92T|ZBTB37_ENST00000367704.1_Missense_Mutation_p.I92T|ZBTB37_ENST00000427304.1_Missense_Mutation_p.I92T			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	92	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						ACAGGGCGGATATGCCTGCAA	0.433																																																0													74	74	74					1																	173839638		2203	4300	6503	SO:0001583	missense	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.275T>C	chr1.hg19:g.173839638T>C	ENSP00000356674:p.Ile92Thr		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	hg19	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123564	0.77436	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367701	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.85	5.85	0.93711	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.044936	0.85682	D	0.000000	T	0.71358	0.3330	L	0.48174	1.505	0.58432	D	0.999993	D;P	0.63880	0.993;0.941	D;P	0.68039	0.955;0.736	T	0.75639	-0.3248	10	0.87932	D	0	.	16.2271	0.82306	0.0:0.0:0.0:1.0	.	92;92	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	T	92	ENSP00000356677:I92T;ENSP00000415293:I92T;ENSP00000409408:I92T;ENSP00000356675:I92T;ENSP00000356674:I92T	ENSP00000356674:I92T	I	+	2	0	ZBTB37	172106261	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.698000	0.84413	2.234000	0.73211	0.460000	0.39030	ATA		0.433	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		C	173839638	T	C	173839638	3	2	485	1	0	0	0	0	1	0	0	0	17543	1406	49	3	277	3	ZBTB37	1	173839638	Missense_Mutation	SNP	T	TCGA-BQ-7062-01A-11D-1961-08	86034375	173839638	75410983	5	26195											
NFASC	23114	hgsc.bcm.edu	37	1	204923960	204923960	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:204923960C>A	ENST00000401399.1	+	6	615	c.416C>A	c.(415-417)tCt>tAt	p.S139Y	NFASC_ENST00000367169.4_Missense_Mutation_p.S139Y|NFASC_ENST00000403080.1_Missense_Mutation_p.S139Y|NFASC_ENST00000404076.1_Missense_Mutation_p.S133Y|NFASC_ENST00000360049.4_Missense_Mutation_p.S133Y|NFASC_ENST00000339876.6_Missense_Mutation_p.S139Y|NFASC_ENST00000404907.1_Missense_Mutation_p.S133Y|NFASC_ENST00000513543.1_Missense_Mutation_p.S133Y|NFASC_ENST00000539706.1_Missense_Mutation_p.S133Y|NFASC_ENST00000367171.4_Missense_Mutation_p.S139Y|NFASC_ENST00000338515.6_Missense_Mutation_p.S139Y|NFASC_ENST00000367170.4_Missense_Mutation_p.S139Y|NFASC_ENST00000338586.6_Missense_Mutation_p.S139Y|NFASC_ENST00000367172.4_Missense_Mutation_p.S139Y			O94856	NFASC_HUMAN	neurofascin	139					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCTCCAGAATCTCCTCTGTGG	0.597																																																0													105	107	106					1																	204923960		2203	4300	6503	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.416C>A	chr1.hg19:g.204923960C>A	ENSP00000385637:p.Ser139Tyr		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	hg19	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.998077|4.998077	0.93227|0.93227	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.72282	.|1.09;-0.64;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.52532	.|D	.|0.000064	D|D	0.83069|0.83069	0.5174|0.5174	M|M	0.64260|0.64260	1.97|1.97	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.87578	.|0.998;0.977;0.992;0.977;0.99;0.976	D|D	0.84410|0.84410	0.0565|0.0565	5|10	.|0.72032	.|D	.|0.01	.|.	18.6966|18.6966	0.91603|0.91603	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;133;235;139;133;139	.|O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.	I|Y	109|139;139;139;139;139;139;133;133;133;139;139;139;133;139;133;133;109	.|ENSP00000356140:S139Y;ENSP00000356139:S139Y;ENSP00000356138:S139Y;ENSP00000342128:S139Y;ENSP00000344786:S139Y;ENSP00000343509:S139Y;ENSP00000438614:S133Y;ENSP00000353154:S133Y;ENSP00000356137:S139Y;ENSP00000412161:S139Y;ENSP00000384875:S139Y;ENSP00000385676:S133Y;ENSP00000385637:S139Y;ENSP00000384061:S133Y;ENSP00000425908:S133Y;ENSP00000415031:S109Y	.|ENSP00000295776:S133Y	L|S	+|+	1|2	0|0	NFASC|NFASC	203190583|203190583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.797000|7.797000	0.85911|0.85911	2.516000|2.516000	0.84829|0.84829	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.597	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		A	204923960	C	A	204923960	3	1	485	1	0	0	0	0	1	0	0	0	10361	913	32	4	434	4	NFASC	1	204923960	Missense_Mutation	SNP	C	TCGA-BQ-7062-01A-11D-1961-08	31084322	204923960	44326661	6	26196											
ALPI	248	hgsc.bcm.edu	37	2	233322816	233322816	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr2:233322816C>T	ENST00000295463.3	+	8	1042	c.965C>T	c.(964-966)cCc>cTc	p.P322L		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	322					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCAGGAACCCCCGCGGCTTC	0.662																																																0													58	65	63					2																	233322816		2203	4300	6503	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.965C>T	chr2.hg19:g.233322816C>T	ENSP00000295463:p.Pro322Leu		B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	hg19	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273284	0.40194	.	.	ENSG00000163295	ENST00000295463	D	0.96300	-3.97	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.106561	0.64402	D	0.000003	D	0.97238	0.9097	M	0.93328	3.405	0.58432	D	0.999999	P	0.38223	0.623	B	0.40741	0.339	D	0.98720	1.0708	10	0.62326	D	0.03	.	16.2794	0.82664	0.0:1.0:0.0:0.0	.	322	P09923	PPBI_HUMAN	L	322	ENSP00000295463:P322L	ENSP00000295463:P322L	P	+	2	0	ALPI	233031060	1.000000	0.71417	0.784000	0.31847	0.009000	0.06853	7.289000	0.78701	2.318000	0.78349	0.561000	0.74099	CCC		0.662	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		T	233322816	C	T	233322816	3	4	485	1	0	0	0	0	1	0	0	0	543	623	22	2	995	2	ALPI	2	233322816	Missense_Mutation	SNP	C	TCGA-BQ-7062-01A-11D-1961-08		233322816	9876557	7	26197											
PLXNB1	5364	hgsc.bcm.edu	37	3	48459373	48459373	+	Silent	SNP	C	C	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:48459373C>A	ENST00000358536.4	-	16	3590	c.3321G>T	c.(3319-3321)acG>acT	p.T1107T	PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Silent_p.T924T|PLXNB1_ENST00000456774.1_Silent_p.T924T|PLXNB1_ENST00000296440.6_Silent_p.T1107T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1107	IPT/TIG 1.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCCAGCCACCGTGACCATGC	0.662																																																0													60	58	59					3																	48459373		2203	4300	6503	SO:0001819	synonymous_variant	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3321G>T	chr3.hg19:g.48459373C>A			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	hg19	CCDS2765.1																																																																																				0.662	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		A	48459373	C	A	48459373	2	1	485	1	0	0	0	0	0	0	0	1	12125	639	23	4		4	PLXNB1	3	48459373	Silent	SNP	C	TCGA-BQ-7062-01A-11D-1961-08		48459373	149563057	8	26198											
NDUFAF3	25915	hgsc.bcm.edu	37	3	49059877	49059877	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:49059877A>T	ENST00000326925.6	+	2	1310	c.176A>T	c.(175-177)tAc>tTc	p.Y59F	MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.Y2F|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.Y2F|DALRD3_ENST00000440857.1_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.Y2F	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	59					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CAGGCAATGTACATCGACAGC	0.652																																																0													23	24	23					3																	49059877		2200	4299	6499	SO:0001583	missense	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.176A>T	chr3.hg19:g.49059877A>T	ENSP00000323076:p.Tyr59Phe			Missense_Mutation	SNP	ENST00000326925.6	hg19	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970503	0.53614	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.29	2.73	0.32206	.	0.264355	0.36665	N	0.002471	T	0.70885	0.3275	L	0.33485	1.01	0.31716	N	0.638898	B	0.02656	0.0	B	0.06405	0.002	T	0.58493	-0.7627	10	0.11182	T	0.66	-8.5232	4.4326	0.11535	0.598:0.0:0.09:0.312	.	59	Q9BU61	NDUF3_HUMAN	F	2;59;2;2	ENSP00000323003:Y2F;ENSP00000323076:Y59F;ENSP00000378843:Y2F;ENSP00000402465:Y2F	ENSP00000323003:Y2F	Y	+	2	0	NDUFAF3	49034881	1.000000	0.71417	0.997000	0.53966	0.638000	0.38207	4.002000	0.57053	0.833000	0.34828	0.533000	0.62120	TAC		0.652	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		T	49059877	A	T	49059877	3	4	485	1	0	0	0	0	1	0	0	0	10278	391	14	5	182	5	NDUFAF3	3	49059877	Missense_Mutation	SNP	A	TCGA-BQ-7062-01A-11D-1961-08	600504	49059877	148962553	9	26199											
DNAH1	25981	hgsc.bcm.edu	37	3	52432935	52432935	+	Silent	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:52432935A>G	ENST00000420323.2	+	76	12420	c.12159A>G	c.(12157-12159)gtA>gtG	p.V4053V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4118					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGGGCTGGTAGTGATGTCCT	0.552																																																0													48	54	52					3																	52432935		2092	4227	6319	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12159A>G	chr3.hg19:g.52432935A>G			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	hg19	CCDS46842.1																																																																																				0.552	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		G	52432935	A	G	52432935	2	3	485	1	0	0	0	0	0	0	0	1	4599	407	15	3		3	DNAH1	3	52432935	Silent	SNP	A	TCGA-BQ-7062-01A-11D-1961-08	3373058	52432935	145589495	10	26200											
PDGFRB	5159	hgsc.bcm.edu	37	5	149515196	149515213	+	In_Frame_Del	DEL	CCGTGTCTAGCCCAGTGA	CCGTGTCTAGCCCAGTGA	-	rs141870925|rs188981582|rs556826386	byFrequency	TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	CCGTGTCTAGCCCAGTGA	CCGTGTCTAGCCCAGTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr5:149515196_149515213delCCGTGTCTAGCCCAGTGA	ENST00000261799.4	-	3	738_755	c.269_286delTCACTGGGCTAGACACGG	c.(268-288)ctcactgggctagacacggga>cga	p.90_96LTGLDTG>R		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	90	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGTATTCTCCCGTGTCTAGCCCAGTGAGGTTGGTCAG	0.592			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0																																										SO:0001651	inframe_deletion	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.269_286delTCACTGGGCTAGACACGG	chr5.hg19:g.149515196_149515213delCCGTGTCTAGCCCAGTGA	ENSP00000261799:p.Leu90_Gly96delinsArg		B5A957|Q8N5L4	In_Frame_Del	DEL	ENST00000261799.4	hg19	CCDS4303.1																																																																																				0.592	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		-	149515213	CCGTGTCTAGCCCAGTGA	-	149515196	7	5	485	1	0	1	0	1	0	0	0	0	11664	632	22	0	3118	0	PDGFRB	5	149515196	In_Frame_Del	DEL	CCGTGTCTAGCCCAGTGA	TCGA-BQ-7062-01A-11D-1961-08		149515196	31400064	11	26201											
ASCC3	10973	hgsc.bcm.edu	37	6	101296249	101296249	+	Silent	SNP	T	T	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr6:101296249T>A	ENST00000369162.2	-	4	920	c.576A>T	c.(574-576)atA>atT	p.I192I	ASCC3_ENST00000522650.1_Silent_p.I192I	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	192					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATCTAGGCTTATAGTTTTCT	0.378																																																0													59	58	58					6																	101296249		2203	4300	6503	SO:0001819	synonymous_variant	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.576A>T	chr6.hg19:g.101296249T>A			E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	hg19	CCDS5046.1																																																																																				0.378	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		A	101296249	T	A	101296249	2	1	485	1	0	0	0	0	0	0	0	1	1033	1744	61	5		5	ASCC3	6	101296249	Silent	SNP	T	TCGA-BQ-7062-01A-11D-1961-08		101296249	69818818	12	26202											
NOM1	64434	hgsc.bcm.edu	37	7	156752614	156752614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr7:156752614delA	ENST00000275820.3	+	4	1393	c.1378delA	c.(1378-1380)aaafs	p.K460fs	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	460	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAGCGAAGGGAAAGAGTGTGA	0.443																																																0													128	109	115					7																	156752614		2203	4300	6503	SO:0001589	frameshift_variant	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1378delA	chr7.hg19:g.156752614delA	ENSP00000275820:p.Lys460fs		Q96I08	Frame_Shift_Del	DEL	ENST00000275820.3	hg19	CCDS34787.1																																																																																				0.443	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		-	156752614	A	-	156752614	7	5	485	1	0	1	0	1	0	0	0	0	10532	247	9	0	1392	0	NOM1	7	156752614	Frame_Shift_Del	DEL	A	TCGA-BQ-7062-01A-11D-1961-08		156752614	2386049	13	26203											
C8orf41	80185	hgsc.bcm.edu	37	8	33369560	33369560	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr8:33369560A>T	ENST00000431156.2	-	2	1190	c.572T>A	c.(571-573)tTc>tAc	p.F191Y	TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000360742.5_Missense_Mutation_p.F191Y|TTI2_ENST00000520636.1_Missense_Mutation_p.F191Y|SNORD13_ENST00000459299.1_RNA	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	191																	TCCATGTAGGAATCCTGCCAC	0.502																																																0													191	196	194					8																	33369560		2203	4300	6503	SO:0001583	missense	80185			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"chromosome 8 open reading frame 41", "Tel2 interacting protein 2 homolog (S. pombe)"	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.572T>A	chr8.hg19:g.33369560A>T	ENSP00000411169:p.Phe191Tyr		D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	hg19	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592154	0.66219	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636;ENST00000520397	T;T;T	0.76709	-1.04;-1.04;-1.04	4.66	4.66	0.58398	.	0.101991	0.43579	D	0.000544	D	0.85102	0.5620	M	0.76838	2.35	0.25824	N	0.984245	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.60012	0.867;0.867;0.867	T	0.79057	-0.1959	10	0.72032	D	0.01	-23.4405	11.5884	0.50931	1.0:0.0:0.0:0.0	.	191;191;191	E5RH83;Q6NXR4;E5RIH5	.;TTI2_HUMAN;.	Y	191	ENSP00000353971:F191Y;ENSP00000411169:F191Y;ENSP00000428401:F191Y	ENSP00000353971:F191Y	F	-	2	0	C8orf41	33489102	1.000000	0.71417	0.326000	0.25389	0.530000	0.34684	5.556000	0.67307	1.954000	0.56735	0.533000	0.62120	TTC		0.502	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		T	33369560	A	T	33369560	3	4	485	1	0	0	0	0	1	0	0	0	2429	246	9	5	982	5	C8orf41	8	33369560	Missense_Mutation	SNP	A	TCGA-BQ-7062-01A-11D-1961-08		33369560	112994462	14	26204											
PSCA	8000	hgsc.bcm.edu	37	8	143762846	143762846	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr8:143762846C>G	ENST00000301258.4	+	2	210	c.127C>G	c.(127-129)Cgc>Ggc	p.R43G	PSCA_ENST00000505305.1_3'UTR|PSCA_ENST00000513264.1_Missense_Mutation_p.R43G	NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	52	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGGACCGCGCGCATCCGTGA	0.607																																																0													12	16	15					8																	143762846		2125	4209	6334	SO:0001583	missense	8000			AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.127C>G	chr8.hg19:g.143762846C>G	ENSP00000301258:p.Arg43Gly		Q6UW92	Missense_Mutation	SNP	ENST00000301258.4	hg19	CCDS47925.2	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686883	0.29962	.	.	ENSG00000167653	ENST00000301258;ENST00000513264	T	0.70399	-0.48	2.97	2.09	0.27110	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	1.295300	0.05740	N	0.601212	T	0.75079	0.3801	M	0.72894	2.215	0.09310	N	1	P	0.43169	0.8	P	0.50162	0.633	T	0.57837	-0.7742	10	0.26408	T	0.33	.	6.0755	0.19913	0.0:0.8561:0.0:0.1439	.	52	O43653	PSCA_HUMAN	G	52	ENSP00000426508:R52G	ENSP00000301258:R52G	R	+	1	0	PSCA	143759848	0.001000	0.12720	0.001000	0.08648	0.176000	0.22953	1.247000	0.32815	0.837000	0.34925	0.456000	0.33151	CGC		0.607	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672		G	143762846	C	G	143762846	3	3	485	1	0	0	0	0	1	0	0	0	12650	768	27	4	133	4	PSCA	8	143762846	Missense_Mutation	SNP	C	TCGA-BQ-7062-01A-11D-1961-08	110393286	143762846	2601176	15	26205											
TLN1	7094	hgsc.bcm.edu	37	9	35698169	35698169	+	Splice_Site	SNP	C	C	G	rs555751291		TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr9:35698169C>G	ENST00000314888.9	-	56	7725	c.7372G>C	c.(7372-7374)Gct>Cct	p.A2458P	TLN1_ENST00000540444.1_Splice_Site_p.A2346P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2458	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCCAGCAGCCTGGGCAGAG	0.512																																																0													74	68	70					9																	35698169		2203	4300	6503	SO:0001630	splice_region_variant	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7372-1G>C	chr9.hg19:g.35698169C>G			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417660	0.83449	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.31769	1.48;1.48	4.83	4.83	0.62350	I/LWEQ (4);	0.053747	0.85682	D	0.000000	T	0.56441	0.1985	M	0.79258	2.445	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	T	0.60747	-0.7202	10	0.56958	D	0.05	-4.1588	18.0913	0.89476	0.0:1.0:0.0:0.0	.	2458	Q9Y490	TLN1_HUMAN	P	2458;2346	ENSP00000316029:A2458P;ENSP00000442981:A2346P	ENSP00000316029:A2458P	A	-	1	0	TLN1	35688169	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.752000	0.62176	2.509000	0.84616	0.655000	0.94253	GCT		0.512	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	Missense_Mutation	G	35698169	C	G	35698169	5	3	485	1	0	0	0	0	0	0	1	0	15952	753	26	4	261	4	TLN1	9	35698169	Splice_Site	SNP	C	TCGA-BQ-7062-01A-11D-1961-08		35698169	105515262	16	26206											
IFIT5	24138	hgsc.bcm.edu	37	10	91177427	91177427	+	Silent	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr10:91177427A>G	ENST00000371795.4	+	2	684	c.471A>G	c.(469-471)caA>caG	p.Q157Q	IFIT5_ENST00000416601.1_Silent_p.Q157Q	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	157					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						AGTATTATCAAAAGGCTAAAG	0.443																																																0													71	74	73					10																	91177427		2203	4300	6503	SO:0001819	synonymous_variant	24138			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.471A>G	chr10.hg19:g.91177427A>G			B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Silent	SNP	ENST00000371795.4	hg19	CCDS7403.1																																																																																				0.443	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		G	91177427	A	G	91177427	2	3	485	1	0	0	0	0	0	0	0	1	7527	11	1	3		3	IFIT5	10	91177427	Silent	SNP	A	TCGA-BQ-7062-01A-11D-1961-08		91177427	44357320	17	26207											
DMBT1	1755	hgsc.bcm.edu	37	10	124352013	124352013	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr10:124352013G>A	ENST00000338354.3	+	20	2508	c.2402G>A	c.(2401-2403)cGc>cAc	p.R801H	DMBT1_ENST00000368909.3_Missense_Mutation_p.R801H|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.R791H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R791H|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	801	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATGATGTGCGCTGCTCAGGA	0.607																																					Ovarian(182;93 2026 18125 22222 38972)											0													155	114	127					10																	124352013		2023	4110	6133	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2402G>A	chr10.hg19:g.124352013G>A	ENSP00000342210:p.Arg801His		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	hg19		.	.	.	.	.	.	.	.	.	.	G	0.015	-1.564805	0.00903	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	3.9	-0.752	0.11072	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.43233	0.1238	L	0.42008	1.315	0.09310	N	1	D;B;B;B	0.76494	0.999;0.098;0.098;0.119	D;B;B;B	0.63033	0.91;0.005;0.005;0.008	T	0.26224	-1.0109	9	0.33141	T	0.24	.	1.6023	0.02676	0.3222:0.1635:0.395:0.1192	.	562;801;791;801	Q9UGM3-4;Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	H	801;801;801;801;801;801;791;801;791	ENSP00000342210:R801H;ENSP00000343175:R791H;ENSP00000357905:R801H;ENSP00000357951:R791H	ENSP00000342210:R801H	R	+	2	0	DMBT1	124342003	0.000000	0.05858	0.023000	0.16930	0.017000	0.09413	-1.614000	0.02057	-0.442000	0.07190	-0.219000	0.12488	CGC		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		A	124352013	G	A	124352013	3	1	485	1	0	0	0	0	1	0	0	0	4579	1087	38	1	2480	1	DMBT1	10	124352013	Missense_Mutation	SNP	G	TCGA-BQ-7062-01A-11D-1961-08	33174586	124352013	11182734	18	26208											
AGBL2	79841	hgsc.bcm.edu	37	11	47726183	47726183	+	Frame_Shift_Del	DEL	G	G	-	rs373862581		TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr11:47726183delG	ENST00000525123.1	-	7	783	c.498delC	c.(496-498)ctcfs	p.L166fs	AGBL2_ENST00000298861.4_Frame_Shift_Del_p.L166fs|AGBL2_ENST00000528244.1_Frame_Shift_Del_p.L128fs|AGBL2_ENST00000357610.3_Frame_Shift_Del_p.L166fs|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	166						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AAATGGAAAAGAGCTCTTGGG	0.428																																																0													141	132	135					11																	47726183		2201	4298	6499	SO:0001589	frameshift_variant	79841				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.498delC	chr11.hg19:g.47726183delG	ENSP00000435582:p.Leu166fs		A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Frame_Shift_Del	DEL	ENST00000525123.1	hg19	CCDS7944.1																																																																																				0.428	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		-	47726183	G	-	47726183	7	5	485	1	0	1	0	1	0	0	0	0	376	929	33	0	2262	0	AGBL2	11	47726183	Frame_Shift_Del	DEL	G	TCGA-BQ-7062-01A-11D-1961-08		47726183	87280333	19	26209											
MS4A8B	83661	hgsc.bcm.edu	37	11	60482801	60482801	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr11:60482801A>G	ENST00000300226.2	+	7	870	c.667A>G	c.(667-669)Aac>Gac	p.N223D		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	223						integral component of membrane (GO:0016021)											CATCTATCCAAACATCTATGC	0.512																																																0													139	119	126					11																	60482801		2203	4300	6503	SO:0001583	missense	83661			AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.667A>G	chr11.hg19:g.60482801A>G	ENSP00000300226:p.Asn223Asp		Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	hg19	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.374|5.374	0.254305|0.254305	0.10185|0.10185	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000529752|ENST00000300226	T|T	0.18016|0.08008	2.24|3.14	4.21|4.21	1.87|1.87	0.25490|0.25490	.|.	.|.	.|.	.|.	.|.	T|T	0.05318|0.05318	0.0141|0.0141	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|P	.|0.37466	.|0.596	.|B	.|0.32864	.|0.154	T|T	0.39251|0.39251	-0.9623|-0.9623	7|9	0.15499|0.30078	T|T	0.54|0.28	-8.3887|-8.3887	5.7024|5.7024	0.17889|0.17889	0.7776:0.0:0.2223:0.0|0.7776:0.0:0.2223:0.0	.|.	.|223	.|Q9BY19	.|M4A8B_HUMAN	R|D	205|223	ENSP00000436857:K205R|ENSP00000300226:N223D	ENSP00000436857:K205R|ENSP00000300226:N223D	K|N	+|+	2|1	0|0	MS4A8B|MS4A8B	60239377|60239377	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	1.017000|1.017000	0.29989|0.29989	0.279000|0.279000	0.22186|0.22186	-0.290000|-0.290000	0.09829|0.09829	AAA|AAC		0.512	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			G	60482801	A	G	60482801	3	3	485	1	0	0	0	0	1	0	0	0	9869	14	1	3	689	3	MS4A8B	11	60482801	Missense_Mutation	SNP	A	TCGA-BQ-7062-01A-11D-1961-08	12756618	60482801	74523715	20	26210											
HNRNPUL2	221092	hgsc.bcm.edu	37	11	62489600	62489600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr11:62489600C>A	ENST00000301785.5	-	7	1540	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*	HNRNPUL2-BSCL2_ENST00000403734.2_Nonsense_Mutation_p.E450*	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	450						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCACATTCCTCTATGGTCTTG	0.517																																																0													72	71	71					11																	62489600		2062	4209	6271	SO:0001587	stop_gained	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1348G>T	chr11.hg19:g.62489600C>A	ENSP00000301785:p.Glu450*		Q8N3B3	Nonsense_Mutation	SNP	ENST00000301785.5	hg19	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	38	7.037044	0.98017	.	.	ENSG00000214753	ENST00000301785	.	.	.	5.55	5.55	0.83447	.	0.262799	0.38217	N	0.001774	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.715	17.0466	0.86505	0.0:1.0:0.0:0.0	.	.	.	.	X	450	.	ENSP00000301785:E450X	E	-	1	0	HNRNPUL2	62246176	0.998000	0.40836	0.996000	0.52242	0.992000	0.81027	1.869000	0.39519	2.894000	0.99253	0.655000	0.94253	GAG		0.517	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		A	62489600	C	A	62489600	4	1	485	1	0	0	0	0	0	1	0	0	7277	922	32	4	927	4	HNRNPUL2	11	62489600	Nonsense_Mutation	SNP	C	TCGA-BQ-7062-01A-11D-1961-08	2006799	62489600	72516916	21	26211											
RAD51AP1	10635	hgsc.bcm.edu	37	12	4657343	4657343	+	Splice_Site	SNP	A	A	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:4657343A>T	ENST00000544927.1	+	5	415	c.405A>T	c.(403-405)ttA>ttT	p.L135F	RAD51AP1_ENST00000321524.7_Splice_Site_p.L152F|RAD51AP1_ENST00000543041.1_Splice_Site_p.L17F|RAD51AP1_ENST00000352618.4_Splice_Site_p.L135F|RAD51AP1_ENST00000228843.9_Splice_Site_p.L152F					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GTGATTATTTAGGTAAGtttt	0.289																																																0													59	67	64					12																	4657343		2202	4298	6500	SO:0001630	splice_region_variant	10635			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.406+1A>T	chr12.hg19:g.4657343A>T				Missense_Mutation	SNP	ENST00000544927.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.48|17.48	3.400705|3.400705	0.62177|0.62177	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	T;T;T;T;T|.	0.37058|.	1.22;1.22;1.22;1.22;1.22|.	4.97|4.97	3.82|3.82	0.43975|0.43975	.|.	0.645832|.	0.14584|.	N|.	0.310677|.	T|.	0.48223|.	0.1488|.	L|L	0.41710|0.41710	1.295|1.295	0.34395|0.34395	D|D	0.694667|0.694667	D;B;P;B|.	0.89917|.	1.0;0.185;0.492;0.047|.	D;B;B;B|.	0.85130|.	0.997;0.171;0.171;0.032|.	T|.	0.57306|.	-0.7834|.	10|.	0.46703|.	T|.	0.11|.	-1.5623|-1.5623	8.1351|8.1351	0.31050|0.31050	0.7774:0.2226:0.0:0.0|0.7774:0.2226:0.0:0.0	.|.	17;152;152;135|.	B4DUS5;Q96B01;A8K313;Q96B01-2|.	.;R51A1_HUMAN;.;.|.	F|X	152;17;152;135;135|130	ENSP00000323750:L152F;ENSP00000439960:L17F;ENSP00000228843:L152F;ENSP00000309479:L135F;ENSP00000446296:L135F|.	ENSP00000228843:L152F|.	L|R	+|+	3|1	2|2	RAD51AP1|RAD51AP1	4527604|4527604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.882000|1.882000	0.39648|0.39648	2.085000|2.085000	0.62840|0.62840	0.482000|0.482000	0.46254|0.46254	TTA|AGA		0.289	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479	Missense_Mutation	T	4657343	A	T	4657343	5	4	485	1	0	0	0	0	0	0	1	0	12992	434	15	5	478	5	RAD51AP1	12	4657343	Splice_Site	SNP	A	TCGA-BQ-7062-01A-11D-1961-08		4657343	129194552	22	26212											
LMBR1L	55716	hgsc.bcm.edu	37	12	49500795	49500795	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:49500795G>T	ENST00000267102.8	-	2	448	c.106C>A	c.(106-108)Ctc>Atc	p.L36I	LMBR1L_ENST00000547382.1_Missense_Mutation_p.L36I|LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000395141.4_5'Flank	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	36	LCN1-binding.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGTGGCAGAGGATGTACAGT	0.512																																																0													141	161	154					12																	49500795		2105	4230	6335	SO:0001583	missense	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.106C>A	chr12.hg19:g.49500795G>T	ENSP00000267102:p.Leu36Ile		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	ENST00000267102.8	hg19	CCDS8780.2	.	.	.	.	.	.	.	.	.	.	G	9.092	1.001902	0.19121	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000547675;ENST00000550137;ENST00000551854;ENST00000551782	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.25	3.45	0.39498	LMBR1-like membrane protein (1);	0.130135	0.52532	D	0.000077	T	0.19685	0.0473	N	0.16368	0.405	0.80722	D	1	P;P	0.36412	0.496;0.552	B;B	0.38428	0.126;0.273	T	0.06625	-1.0816	10	0.02654	T	1	-2.6499	10.8004	0.46485	0.1557:0.0:0.8443:0.0	.	36;36	Q6UX01-3;Q6UX01	.;LMBRL_HUMAN	I	36;36;36;36;41;36	ENSP00000267102:L36I;ENSP00000447329:L36I;ENSP00000447240:L36I;ENSP00000446641:L41I;ENSP00000449633:L36I	ENSP00000267102:L36I	L	-	1	0	LMBR1L	47787062	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.966000	0.40481	0.813000	0.34350	0.563000	0.77884	CTC		0.512	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		T	49500795	G	T	49500795	3	4	485	1	0	0	0	0	1	0	0	0	8843	1000	35	4	1427	4	LMBR1L	12	49500795	Missense_Mutation	SNP	G	TCGA-BQ-7062-01A-11D-1961-08	44843452	49500795	84351100	23	26213											
PAH	5053	hgsc.bcm.edu	37	12	103234258	103234258	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:103234258A>G	ENST00000553106.1	-	12	1707	c.1235T>C	c.(1234-1236)gTt>gCt	p.V412A	PAH_ENST00000307000.2_Missense_Mutation_p.V407A	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	412					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTCGTAGCGAACTGAGAAGGG	0.448																																																0													168	151	157					12																	103234258		2203	4300	6503	SO:0001583	missense	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1235T>C	chr12.hg19:g.103234258A>G	ENSP00000448059:p.Val412Ala		Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	hg19	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379312	0.82682	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99755	-6.64;-6.64	5.63	5.63	0.86233	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99405	0.9790	M	0.78637	2.42	0.80722	D	1	P	0.39748	0.686	B	0.42422	0.387	D	0.98750	1.0720	10	0.56958	D	0.05	-29.1046	14.8162	0.70036	1.0:0.0:0.0:0.0	.	412	P00439	PH4H_HUMAN	A	412;407	ENSP00000448059:V412A;ENSP00000303500:V407A	ENSP00000303500:V407A	V	-	2	0	PAH	101758388	1.000000	0.71417	0.993000	0.49108	0.729000	0.41735	8.471000	0.90403	2.152000	0.67230	0.459000	0.35465	GTT		0.448	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			G	103234258	A	G	103234258	3	3	485	1	0	0	0	0	1	0	0	0	11396	43	2	3	131	3	PAH	12	103234258	Missense_Mutation	SNP	A	TCGA-BQ-7062-01A-11D-1961-08	53733463	103234258	30617637	24	26214											
GPR109A	338442	hgsc.bcm.edu	37	12	123187395	123187395	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:123187395T>A	ENST00000328880.5	-	1	495	c.436A>T	c.(436-438)Atc>Ttc	p.I146F	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	146					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CAAGAGATGATGGCTGCTGTC	0.557																																																0													128	113	118					12																	123187395		2203	4300	6503	SO:0001583	missense	338442			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.436A>T	chr12.hg19:g.123187395T>A	ENSP00000375066:p.Ile146Phe		A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	hg19	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	T	7.211	0.595394	0.13875	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.72615	-0.67	5.55	-6.58	0.01836	GPCR, rhodopsin-like superfamily (1);	0.529882	0.18506	N	0.139204	T	0.47783	0.1464	L	0.33189	0.99	0.09310	N	1	B	0.14438	0.01	B	0.19946	0.027	T	0.45454	-0.9260	10	0.10902	T	0.67	-17.8896	9.0102	0.36137	0.0:0.4452:0.345:0.2098	.	146	Q8TDS4	HCAR2_HUMAN	F	146	ENSP00000375066:I146F	ENSP00000375066:I146F	I	-	1	0	HCAR2	121753348	0.001000	0.12720	0.001000	0.08648	0.954000	0.61252	-0.487000	0.06505	-0.941000	0.03700	0.533000	0.62120	ATC		0.557	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		A	123187395	T	A	123187395	3	1	485	1	0	0	0	0	1	0	0	0	6627	1464	51	5	659	5	GPR109A	12	123187395	Missense_Mutation	SNP	T	TCGA-BQ-7062-01A-11D-1961-08	19953137	123187395	10664500	25	26215											
CHRNA5	1138	hgsc.bcm.edu	37	15	78885562	78885562	+	Missense_Mutation	SNP	A	A	C	rs558115871		TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr15:78885562A>C	ENST00000299565.5	+	6	1574	c.1374A>C	c.(1372-1374)ttA>ttC	p.L458F	CHRNA5_ENST00000559554.1_3'UTR|RP11-650L12.2_ENST00000567141.1_RNA|CHRNA3_ENST00000348639.3_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	458					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	CAAATATATTAATACCAGTTC	0.338																																																0													104	94	97					15																	78885562		2196	4293	6489	SO:0001583	missense	1138				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1959	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 5 (neuronal)"	118505	"cholinergic receptor, nicotinic, alpha polypeptide 5"			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1374A>C	chr15.hg19:g.78885562A>C	ENSP00000299565:p.Leu458Phe		Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	hg19	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895619	0.33442	.	.	ENSG00000169684	ENST00000299565	T	0.78481	-1.18	5.23	-1.75	0.08031	.	0.287773	0.35870	N	0.002933	T	0.50188	0.1601	N	0.08118	0	0.47065	D	0.999304	B	0.18461	0.028	B	0.14023	0.01	T	0.08994	-1.0695	10	0.54805	T	0.06	.	3.7176	0.08444	0.5096:0.0946:0.0656:0.3301	.	458	P30532	ACHA5_HUMAN	F	458	ENSP00000299565:L458F	ENSP00000299565:L458F	L	+	3	2	CHRNA5	76672617	0.756000	0.28383	0.039000	0.18376	0.834000	0.47266	0.062000	0.14389	-0.290000	0.09025	-1.450000	0.01041	TTA		0.338	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			C	78885562	A	C	78885562	3	2	485	1	0	0	0	0	1	0	0	0	3388	359	13	5	1396	5	CHRNA5	15	78885562	Missense_Mutation	SNP	A	TCGA-BQ-7062-01A-11D-1961-08		78885562	23645830	26	26216											
ADCY9	115	hgsc.bcm.edu	37	16	4029168	4029168	+	Silent	SNP	G	G	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr16:4029168G>A	ENST00000294016.3	-	8	3166	c.2628C>T	c.(2626-2628)ccC>ccT	p.P876P		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	876					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCCAGTGCGGGAAGCGACA	0.582																																																0													128	121	124					16																	4029168		2197	4300	6497	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2628C>T	chr16.hg19:g.4029168G>A			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	hg19	CCDS32382.1																																																																																				0.582	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4029168	G	A	4029168	2	1	485	1	0	0	0	0	0	0	0	1	301	1103	39	1		1	ADCY9	16	4029168	Silent	SNP	G	TCGA-BQ-7062-01A-11D-1961-08		4029168	86325585	27	26217											
ACSM3	6296	hgsc.bcm.edu	37	16	20787239	20787239	+	Silent	SNP	C	C	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr16:20787239C>T	ENST00000289416.5	+	3	773	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	ACSM3_ENST00000450120.2_Silent_p.L55L|ACSM3_ENST00000440284.2_Silent_p.L100L	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	100			L -> P (in dbSNP:rs5713).		cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TTTTGAGGAACTGGGATCTCT	0.458																																																0													119	127	125					16																	20787239		2201	4300	6501	SO:0001819	synonymous_variant	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.298C>T	chr16.hg19:g.20787239C>T			O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	hg19	CCDS10589.1																																																																																				0.458	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		T	20787239	C	T	20787239	2	4	485	1	0	0	0	0	0	0	0	1	185	564	20	2		2	ACSM3	16	20787239	Silent	SNP	C	TCGA-BQ-7062-01A-11D-1961-08	16758071	20787239	69567514	28	26218											
WDR81	124997	hgsc.bcm.edu	37	17	1631524	1631524	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:1631524G>A	ENST00000409644.1	+	1	3271	c.3271G>A	c.(3271-3273)Gtg>Atg	p.V1091M	WDR81_ENST00000309182.5_Missense_Mutation_p.V40M|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000545662.1_5'Flank	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1091					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGGGCTCTATGTGACTGAGTC	0.662																																																0													38	45	43					17																	1631524		2202	4299	6501	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3271G>A	chr17.hg19:g.1631524G>A	ENSP00000386609:p.Val1091Met		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	hg19	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473006	0.84640	.	.	ENSG00000167716	ENST00000309182;ENST00000409644;ENST00000354680	T;T	0.56103	2.09;0.48	5.65	5.65	0.86999	.	0.060024	0.64402	D	0.000003	T	0.65481	0.2695	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.67589	-0.5632	10	0.87932	D	0	.	19.7221	0.96147	0.0:0.0:1.0:0.0	.	218;40	Q8TEL1;Q562E7	.;WDR81_HUMAN	M	40;1091;40	ENSP00000312074:V40M;ENSP00000386609:V1091M	ENSP00000312074:V40M	V	+	1	0	WDR81	1578274	1.000000	0.71417	0.962000	0.40283	0.655000	0.38815	9.327000	0.96396	2.679000	0.91253	0.655000	0.94253	GTG		0.662	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		A	1631524	G	A	1631524	3	1	485	1	0	0	0	0	1	0	0	0	17335	1377	48	2	3335	2	WDR81	17	1631524	Missense_Mutation	SNP	G	TCGA-BQ-7062-01A-11D-1961-08		1631524	79563686	29	26219											
MYO19	80179	hgsc.bcm.edu	37	17	34871758	34871758	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:34871758T>C	ENST00000431794.3	-	7	1012	c.490A>G	c.(490-492)Att>Gtt	p.I164V	MYO19_ENST00000586007.1_Missense_Mutation_p.I164V|MYO19_ENST00000544606.1_Missense_Mutation_p.I30V|MYO19_ENST00000268852.9_Missense_Mutation_p.I164V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	164	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCTCTGCAATCTTGTGGCTC	0.522																																																0													78	81	80					17																	34871758		1998	4151	6149	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.490A>G	chr17.hg19:g.34871758T>C	ENSP00000409936:p.Ile164Val		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	hg19	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	T	4.263	0.047870	0.08243	.	.	ENSG00000141140	ENST00000431794;ENST00000268852;ENST00000544606	D;D;D	0.87103	-2.21;-2.21;-2.21	5.72	1.64	0.23874	Myosin head, motor domain (2);	0.524811	0.15805	N	0.243761	T	0.68632	0.3022	N	0.02736	-0.51	0.24560	N	0.993978	B;B;B;B	0.15473	0.0;0.0;0.0;0.013	B;B;B;B	0.12837	0.003;0.002;0.0;0.008	T	0.56679	-0.7939	10	0.30078	T	0.28	.	9.161	0.37023	0.0:0.3696:0.0:0.6304	.	30;164;164;164	B4DSL5;Q96H55;Q96H55-2;Q96H55-4	.;MYO19_HUMAN;.;.	V	164;164;30	ENSP00000409936:I164V;ENSP00000268852:I164V;ENSP00000438365:I30V	ENSP00000268852:I164V	I	-	1	0	MYO19	31945871	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.767000	0.38501	0.098000	0.17522	0.383000	0.25322	ATT		0.522	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		C	34871758	T	C	34871758	3	2	485	1	0	0	0	0	1	0	0	0	10069	1435	50	3	2562	3	MYO19	17	34871758	Missense_Mutation	SNP	T	TCGA-BQ-7062-01A-11D-1961-08	33240234	34871758	46323452	30	26220											
DGKE	8526	hgsc.bcm.edu	37	17	54926211	54926211	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:54926211A>G	ENST00000284061.3	+	6	1223	c.1043A>G	c.(1042-1044)gAt>gGt	p.D348G		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	348	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ATTAAACTAGATCGGTAAGTT	0.378																																																0													118	114	115					17																	54926211		2203	4300	6503	SO:0001583	missense	8526			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1043A>G	chr17.hg19:g.54926211A>G	ENSP00000284061:p.Asp348Gly		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	hg19	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750777	0.89753	.	.	ENSG00000153933	ENST00000284061	T	0.60672	0.17	5.59	5.59	0.84812	Diacylglycerol kinase, catalytic domain (3);	0.090430	0.85682	D	0.000000	T	0.81692	0.4876	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86463	0.1780	10	0.87932	D	0	.	15.7661	0.78128	1.0:0.0:0.0:0.0	.	348;348	A1L4Q0;P52429	.;DGKE_HUMAN	G	348	ENSP00000284061:D348G	ENSP00000284061:D348G	D	+	2	0	DGKE	52281210	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	8.532000	0.90613	2.134000	0.65973	0.460000	0.39030	GAT		0.378	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		G	54926211	A	G	54926211	3	3	485	1	0	0	0	0	1	0	0	0	4470	333	12	3	1061	3	DGKE	17	54926211	Missense_Mutation	SNP	A	TCGA-BQ-7062-01A-11D-1961-08	20054453	54926211	26268999	31	26221											
ZNF407	55628	hgsc.bcm.edu	37	18	72344119	72344120	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr18:72344119_72344120insTA	ENST00000299687.5	+	1	1144_1145	c.1144_1145insTA	c.(1144-1146)ctafs	p.L382fs	ZNF407_ENST00000309902.6_Frame_Shift_Ins_p.L382fs|ZNF407_ENST00000582337.1_Frame_Shift_Ins_p.L382fs|ZNF407_ENST00000577538.1_Frame_Shift_Ins_p.L382fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGTAGAAAGCTAGACACCTTA	0.431																																																0																																										SO:0001589	frameshift_variant	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1145_1146dupTA	chr18.hg19:g.72344120_72344121dupTA	ENSP00000299687:p.Leu382fs		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Ins	INS	ENST00000299687.5	hg19	CCDS45885.1																																																																																				0.431	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		TA	72344120	-	TA	72344119	7	5	485	1	0	1	1	0	0	0	0	0	17892	796	28	0	1146	0	ZNF407	18	72344119	Frame_Shift_Ins	INS	-	TCGA-BQ-7062-01A-11D-1961-08		72344119	5733129	32	26222											
STAP2	55620	hgsc.bcm.edu	37	19	4328673	4328673	+	Splice_Site	SNP	C	C	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr19:4328673C>G	ENST00000594605.1	-	6	712	c.589G>C	c.(589-591)Ggg>Cgg	p.G197R	STAP2_ENST00000600324.1_Splice_Site_p.G197R|STAP2_ENST00000597593.1_5'Flank	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	197	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGCGCACCCGTTGTGCATC	0.726																																																0													12	13	12					19																	4328673		2187	4277	6464	SO:0001630	splice_region_variant	55620			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.590+1G>C	chr19.hg19:g.4328673C>G			A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	hg19	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017070	0.35606	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.47	3.42	0.39159	SH2 motif (3);	0.167039	0.37261	N	0.002172	T	0.62196	0.2408	M	0.77103	2.36	0.43160	D	0.99494	B;B	0.28258	0.205;0.119	B;B	0.29176	0.066;0.099	T	0.64605	-0.6368	9	0.87932	D	0	-9.4374	10.5452	0.45056	0.0:0.9014:0.0:0.0986	.	197;197	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	R	197	.	ENSP00000317912:G197R	G	-	1	0	STAP2	4279673	0.703000	0.27826	0.790000	0.31976	0.373000	0.29922	1.145000	0.31577	0.866000	0.35629	0.479000	0.44913	GGG		0.726	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841	Missense_Mutation	G	4328673	C	G	4328673	5	3	485	1	0	0	0	0	0	0	1	0	15258	666	23	4	792	4	STAP2	19	4328673	Splice_Site	SNP	C	TCGA-BQ-7062-01A-11D-1961-08		4328673	54800310	33	26223											
PPP1R16B	26051	hgsc.bcm.edu	37	20	37536822	37536822	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr20:37536822G>T	ENST00000299824.1	+	10	1369	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	PPP1R16B_ENST00000373331.2_Nonsense_Mutation_p.E352*	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	394					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GACAGACCAAGAGAATAAGGA	0.607																																																0													88	81	84					20																	37536822		2203	4300	6503	SO:0001587	stop_gained	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1180G>T	chr20.hg19:g.37536822G>T	ENSP00000299824:p.Glu394*		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Nonsense_Mutation	SNP	ENST00000299824.1	hg19	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.556183|7.556183	0.98355|0.98355	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.154659|.	0.56097|.	D|.	0.000027|.	.|T	.|0.71341	.|0.3328	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68953	.|-0.5273	.|4	0.34782|.	T|.	0.22|.	.|.	14.8843|14.8843	0.70555|0.70555	0.0:0.0:0.8566:0.1433|0.0:0.0:0.8566:0.1433	.|.	.|.	.|.	.|.	X|N	394;352|294	.|.	ENSP00000299824:E394X|.	E|K	+|+	1|3	0|2	PPP1R16B|PPP1R16B	36970236|36970236	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.369000|6.369000	0.73109|0.73109	2.771000|2.771000	0.95319|0.95319	0.644000|0.644000	0.83932|0.83932	GAG|AAG		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		T	37536822	G	T	37536822	4	4	485	1	0	0	0	0	0	1	0	0	12371	943	33	4	1214	4	PPP1R16B	20	37536822	Nonsense_Mutation	SNP	G	TCGA-BQ-7062-01A-11D-1961-08		37536822	25488698	34	26224	199	2									
PPP1R16B	26051	hgsc.bcm.edu	37	20	37536828	37536828	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr20:37536828A>G	ENST00000299824.1	+	10	1375	c.1186A>G	c.(1186-1188)Aag>Gag	p.K396E	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.K354E	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	396					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCAAGAGAATAAGGACCCTGT	0.607																																																0													82	77	79					20																	37536828		2203	4300	6503	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1186A>G	chr20.hg19:g.37536828A>G	ENSP00000299824:p.Lys396Glu		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	hg19	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.38|13.38	2.219266|2.219266	0.39201|0.39201	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.70869	.|-0.31;-0.52	5.79|5.79	4.7|4.7	0.59300|0.59300	.|.	.|0.210830	.|0.50627	.|D	.|0.000114	T|T	0.54806|0.54806	0.1881|0.1881	L|L	0.36672|0.36672	1.1|1.1	0.25150|0.25150	N|N	0.990439|0.990439	.|B;B	.|0.19445	.|0.017;0.036	.|B;B	.|0.20767	.|0.007;0.031	T|T	0.36163|0.36163	-0.9759|-0.9759	5|10	.|0.07990	.|T	.|0.79	.|.	9.383|9.383	0.38325|0.38325	0.8649:0.0:0.1351:0.0|0.8649:0.0:0.1351:0.0	.|.	.|354;396	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	M|E	296|396;354	.|ENSP00000299824:K396E;ENSP00000362428:K354E	.|ENSP00000299824:K396E	I|K	+|+	3|1	3|0	PPP1R16B|PPP1R16B	36970242|36970242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	4.056000|4.056000	0.57448|0.57448	2.236000|2.236000	0.73375|0.73375	0.524000|0.524000	0.50904|0.50904	ATA|AAG		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		G	37536828	A	G	37536828	3	3	485	1	0	0	0	0	1	0	0	0	12371	363	13	3	1220	3	PPP1R16B	20	37536828	Missense_Mutation	SNP	A	TCGA-BQ-7062-01A-11D-1961-08	6	37536828	25488692	35	26225	199	2									
APOL6	80830	hgsc.bcm.edu	37	22	36055619	36055619	+	Silent	SNP	C	C	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr22:36055619C>G	ENST00000409652.4	+	3	1284	c.1008C>G	c.(1006-1008)gtC>gtG	p.V336V		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	336					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						gtctgtgtgtctgtgtgtatg	0.483																																																0													94	61	72					22																	36055619		2203	4300	6503	SO:0001819	synonymous_variant	80830			AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"Apolipoproteins"	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.1008C>G	chr22.hg19:g.36055619C>G			Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Silent	SNP	ENST00000409652.4	hg19	CCDS13919.1																																																																																				0.483	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		G	36055619	C	G	36055619	2	3	485	1	0	0	0	0	0	0	0	1	810	900	32	4		4	APOL6	22	36055619	Silent	SNP	C	TCGA-BQ-7062-01A-11D-1961-08		36055619	15248947	36	26226											
MICALL1	85377	hgsc.bcm.edu	37	22	38313744	38313744	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr22:38313744C>T	ENST00000215957.6	+	4	494	c.368C>T	c.(367-369)gCa>gTa	p.A123V		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	123					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AAGGGCCTTGCACCCTGTTCC	0.622																																																0													80	66	71					22																	38313744		2203	4300	6503	SO:0001583	missense	85377			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.368C>T	chr22.hg19:g.38313744C>T	ENSP00000215957:p.Ala123Val		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	hg19	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105894	0.37145	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	T;T	0.73363	-0.74;0.52	3.8	2.78	0.32641	.	0.408833	0.20490	N	0.091317	T	0.55986	0.1955	N	0.19112	0.55	0.19775	N	0.999952	B	0.06786	0.001	B	0.06405	0.002	T	0.48833	-0.9000	10	0.48119	T	0.1	.	7.2373	0.26077	0.0:0.8793:0.0:0.1207	.	123	Q8N3F8	MILK1_HUMAN	V	39;123	ENSP00000404543:A39V;ENSP00000215957:A123V	ENSP00000215957:A123V	A	+	2	0	MICALL1	36643690	0.000000	0.05858	0.005000	0.12908	0.609000	0.37215	0.091000	0.15046	1.176000	0.42840	0.455000	0.32223	GCA		0.622	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		T	38313744	C	T	38313744	3	4	485	1	0	0	0	0	1	0	0	0	9575	710	25	2	382	2	MICALL1	22	38313744	Missense_Mutation	SNP	C	TCGA-BQ-7062-01A-11D-1961-08	2258125	38313744	12990822	37	26227											
MORC4	79710	hgsc.bcm.edu	37	X	106201626	106201626	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chrX:106201626A>G	ENST00000355610.4	-	11	1599	c.1325T>C	c.(1324-1326)aTt>aCt	p.I442T	MORC4_ENST00000255495.7_Missense_Mutation_p.I442T|MORC4_ENST00000535534.1_Missense_Mutation_p.I190T	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	442						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGATGGATCAATCTTCCCAGG	0.423																																																0													132	111	118					X																	106201626		2203	4300	6503	SO:0001583	missense	79710			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1325T>C	chrX.hg19:g.106201626A>G	ENSP00000347821:p.Ile442Thr		A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	hg19	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	A	11.41	1.630627	0.28978	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.30981	2.76;1.51;2.75	5.93	5.93	0.95920	Zinc finger, CW-type (2);	0.519296	0.19062	N	0.123746	T	0.27278	0.0669	L	0.37466	1.105	0.24268	N	0.995258	B;B;B	0.26975	0.165;0.042;0.042	B;B;B	0.28385	0.089;0.055;0.055	T	0.26815	-1.0092	10	0.72032	D	0.01	-5.7895	11.5626	0.50785	1.0:0.0:0.0:0.0	.	190;442;442	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	T	442;190;442	ENSP00000347821:I442T;ENSP00000440359:I190T;ENSP00000255495:I442T	ENSP00000255495:I442T	I	-	2	0	MORC4	106088282	0.305000	0.24481	0.911000	0.35937	0.454000	0.32378	1.929000	0.40114	2.004000	0.58718	0.441000	0.28932	ATT		0.423	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		G	106201626	A	G	106201626	3	3	485	1	0	0	0	0	1	0	0	0	9706	101	4	3	1516	3	MORC4	23	106201626	Missense_Mutation	SNP	A	TCGA-BQ-7062-01A-11D-1961-08		106201626	49068934	38	26228											
STIL	6491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	47717395	47717395	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr1:47717395A>T	ENST00000360380.3	-	18	3640	c.3277T>A	c.(3277-3279)Ttc>Atc	p.F1093I	STIL_ENST00000337817.5_Missense_Mutation_p.F1093I|STIL_ENST00000243182.6_Missense_Mutation_p.F1093I|STIL_ENST00000371877.3_Missense_Mutation_p.F1094I|STIL_ENST00000396221.2_Missense_Mutation_p.F1076I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1093					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AGAAGGCTGAATGGGTCACAA	0.363																																																0													154	159	158					1																	47717395		2203	4300	6503	SO:0001583	missense	6491			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3277T>A	1.37:g.47717395A>T	ENSP00000353544:p.Phe1093Ile		Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	A	9.515	1.106893	0.20714	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.18016	2.25;2.25;2.25;2.24;2.25	5.58	3.29	0.37713	.	0.493832	0.20897	N	0.083719	T	0.09730	0.0239	N	0.16478	0.41	0.21553	N	0.999647	P;P;P	0.45531	0.86;0.86;0.86	B;B;B	0.40410	0.328;0.328;0.328	T	0.18935	-1.0321	10	0.22706	T	0.39	-1.7413	9.442	0.38675	0.8568:0.0:0.1432:0.0	.	1076;1094;1093	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	I	1093;1093;1094;1076;1093	ENSP00000353544:F1093I;ENSP00000337367:F1093I;ENSP00000360944:F1094I;ENSP00000379523:F1076I;ENSP00000243182:F1093I	ENSP00000243182:F1093I	F	-	1	0	STIL	47489982	1.000000	0.71417	0.866000	0.34008	0.926000	0.56050	2.312000	0.43726	0.951000	0.37770	0.377000	0.23210	TTC		0.363	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		T	47717395	A	T	47717395	3	4	486	1	0	0	0	0	1	0	0	0	15287	101	4	5	590	5	STIL	1	47717395	Missense_Mutation	SNP	A	TCGA-CJ-4634-01A-02D-1386-10		47717395	201533226	1	26229											
ADORA3	140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	112042773	112042773	+	Silent	SNP	G	G	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr1:112042773G>A	ENST00000241356.4	-	2	1161	c.756C>T	c.(754-756)atC>atT	p.I252I	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	252					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TAAAGTAGATGATGCAGTTGA	0.448																																																0													105	99	101					1																	112042773		2203	4300	6503	SO:0001819	synonymous_variant	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.756C>T	1.37:g.112042773G>A			A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000241356.4	37	CCDS839.1																																																																																				0.448	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		A	112042773	G	A	112042773	2	1	486	1	0	0	0	0	0	0	0	1	329	1280	45	2		2	ADORA3	1	112042773	Silent	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	64325378	112042773	137207848	2	26230											
FLG	2312	broad.mit.edu;hgsc.bcm.edu	37	1	152277657	152277657	+	Silent	SNP	A	A	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr1:152277657A>G	ENST00000368799.1	-	3	9740	c.9705T>C	c.(9703-9705)gcT>gcC	p.A3235A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3235	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTTTCTGGAAGCAGACCCAG	0.597									Ichthyosis																																							0													179	190	186					1																	152277657		2203	4300	6503	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9705T>C	1.37:g.152277657A>G			Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		G	152277657	A	G	152277657	2	3	486	1	0	0	0	0	0	0	0	1	5924	59	3	3		3	FLG	1	152277657	Silent	SNP	A	TCGA-CJ-4634-01A-02D-1386-10	40234884	152277657	96972964	3	26231											
LMNA	4000	broad.mit.edu;hgsc.bcm.edu	37	1	156105094	156105094	+	Silent	SNP	C	C	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr1:156105094C>G	ENST00000368300.4	+	5	1139	c.927C>G	c.(925-927)ctC>ctG	p.L309L	LMNA_ENST00000368301.2_Silent_p.L309L|LMNA_ENST00000368299.3_Silent_p.L309L|LMNA_ENST00000368297.1_Silent_p.L228L|LMNA_ENST00000473598.2_Silent_p.L210L|LMNA_ENST00000361308.4_Silent_p.L309L|LMNA_ENST00000448611.2_Silent_p.L197L|LMNA_ENST00000392353.3_Silent_p.L228L|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000347559.2_Silent_p.L309L	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	309	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TCAGCCAGCTCCAGAAGCAGG	0.667									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																							0													24	27	26					1																	156105094		2203	4300	6503	SO:0001819	synonymous_variant	4000	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.927C>G	1.37:g.156105094C>G			B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	37	CCDS1129.1																																																																																				0.667	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		G	156105094	C	G	156105094	2	3	486	1	0	0	0	0	0	0	0	1	8850	842	30	4		4	LMNA	1	156105094	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	3827437	156105094	93145527	4	26232											
FCRL2	79368	broad.mit.edu;ucsc.edu	37	1	157739752	157739752	+	Missense_Mutation	SNP	C	C	T	rs138011295		TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr1:157739752C>T	ENST00000361516.3	-	4	547	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	FCRL2_ENST00000392274.3_Missense_Mutation_p.V167M|FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	167	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCACTCCACACGGCAGAAATC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		16596	0.0		0.001	False		,,,				2504	0.0															0								C	MET/VAL	0,4406		0,0,2203	70	73	72		499	-9.2	0	1	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FCRL2	NM_030764.3	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	167/509	157739752	2,13004	2203	4300	6503	SO:0001583	missense	79368			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.499G>A	1.37:g.157739752C>T	ENSP00000355157:p.Val167Met		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.467007	0.01053	0.0	2.33E-4	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.05786	3.39;3.39	4.61	-9.21	0.00678	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.900950	0.01577	N	0.020878	T	0.00754	0.0025	N	0.10685	0.025	0.09310	N	1	B;B;B	0.21381	0.027;0.055;0.025	B;B;B	0.26202	0.041;0.067;0.041	T	0.32241	-0.9914	10	0.32370	T	0.25	.	4.9473	0.13997	0.3584:0.4346:0.0903:0.1167	.	167;167;167	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	M	167	ENSP00000355157:V167M;ENSP00000376100:V167M	ENSP00000355157:V167M	V	-	1	0	FCRL2	156006376	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.191000	0.01246	-3.399000	0.00171	-1.215000	0.01618	GTG		0.532	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		T	157739752	C	T	157739752	3	4	486	1	0	0	0	0	1	0	0	0	5797	536	19	1	1063	1	FCRL2	1	157739752	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	1634658	157739752	91510869	5	26233											
TGFB2	7042	broad.mit.edu;hgsc.bcm.edu	37	1	218609363	218609363	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr1:218609363C>T	ENST00000366930.4	+	5	1273	c.806C>T	c.(805-807)tCc>tTc	p.S269F	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Missense_Mutation_p.S297F	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	269					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		ACTATAAAGTCCACTAGGAAA	0.423																																																0													82	82	82					1																	218609363		2203	4300	6503	SO:0001583	missense	7042			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.806C>T	1.37:g.218609363C>T	ENSP00000355897:p.Ser269Phe		B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768508	0.69878	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.74842	-0.76;-0.88	6.17	6.17	0.99709	.	0.266020	0.40469	N	0.001082	T	0.75722	0.3888	L	0.39898	1.24	0.39298	D	0.964855	D;B	0.53885	0.963;0.001	P;B	0.53809	0.735;0.003	T	0.68119	-0.5493	10	0.07325	T	0.83	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	297;269	P61812-2;P61812	.;TGFB2_HUMAN	F	269;297	ENSP00000355897:S269F;ENSP00000355896:S297F	ENSP00000355896:S297F	S	+	2	0	TGFB2	216675986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.975000	0.56859	2.941000	0.99782	0.655000	0.94253	TCC		0.423	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		T	218609363	C	T	218609363	3	4	486	1	0	0	0	0	1	0	0	0	15823	855	30	2	912	2	TGFB2	1	218609363	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	60869611	218609363	30641258	6	26234											
OBSCN	84033	broad.mit.edu;hgsc.bcm.edu	37	1	228528242	228528242	+	Silent	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr1:228528242C>T	ENST00000422127.1	+	71	17495	c.17451C>T	c.(17449-17451)ccC>ccT	p.P5817P	OBSCN_ENST00000570156.2_Silent_p.P6774P|OBSCN_ENST00000366707.4_Silent_p.P3451P|OBSCN_ENST00000366709.4_Silent_p.P2936P|OBSCN_ENST00000284548.11_Silent_p.P5817P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5817	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGGGACCCCTCTCAGCCCC	0.657																																																0													19	25	23					1																	228528242		1944	4122	6066	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17451C>T	1.37:g.228528242C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349068	0.24426	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.47	4.55	0.56014	.	.	.	.	.	T	0.56470	0.1987	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54091	-0.8345	4	.	.	.	.	6.8572	0.24048	0.0:0.6662:0.1348:0.199	.	.	.	.	F	434	.	.	L	+	1	0	OBSCN	226594865	0.051000	0.20477	0.965000	0.40720	0.152000	0.21847	-0.348000	0.07740	1.310000	0.45006	0.561000	0.74099	CTC		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		T	228528242	C	T	228528242	2	4	486	1	0	0	0	0	0	0	0	1	10814	668	24	2		2	OBSCN	1	228528242	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	9918879	228528242	20722379	7	26235											
C2orf71	388939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29295855	29295855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr2:29295855G>A	ENST00000331664.5	-	1	1272	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	425					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCCTGTGCTCGTGGCTGAACC	0.572																																																0													85	90	89					2																	29295855		2021	4173	6194	SO:0001587	stop_gained	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1273C>T	2.37:g.29295855G>A	ENSP00000332809:p.Arg425*			Nonsense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671004	0.88348	.	.	ENSG00000179270	ENST00000331664	.	.	.	5.3	0.431	0.16523	.	0.934123	0.09148	N	0.841936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	0.1739	0.5046	0.00585	0.1922:0.3134:0.2107:0.2837	.	.	.	.	X	425	.	ENSP00000332809:R425X	R	-	1	2	C2orf71	29149359	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.176000	0.09811	-0.217000	0.10033	-0.311000	0.09066	CGA		0.572	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		A	29295855	G	A	29295855	4	1	486	1	0	0	0	0	0	1	0	0	2193	1153	40	1	2601	1	C2orf71	2	29295855	Nonsense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10		29295855	213903518	8	26236											
ACTR2	10097	broad.mit.edu;hgsc.bcm.edu	37	2	65488448	65488448	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr2:65488448C>T	ENST00000260641.5	+	7	960	c.803C>T	c.(802-804)cCt>cTt	p.P268L	ACTR2_ENST00000377982.4_Missense_Mutation_p.P273L|ACTR2_ENST00000542850.1_Missense_Mutation_p.P213L	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	268					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TTATTTCAGCCTCACTTGATC	0.413																																																0													100	93	95					2																	65488448		2203	4300	6503	SO:0001583	missense	10097			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"ARP2 (actin-related protein 2, yeast) homolog"			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.803C>T	2.37:g.65488448C>T	ENSP00000260641:p.Pro268Leu		B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Missense_Mutation	SNP	ENST00000260641.5	37	CCDS1881.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218010	0.95104	.	.	ENSG00000138071	ENST00000260641;ENST00000542850;ENST00000377982;ENST00000535303	T;T;T	0.17854	2.25;2.25;2.25	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	H	0.99143	4.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81017	-0.1123	10	0.87932	D	0	-12.148	19.6376	0.95740	0.0:1.0:0.0:0.0	.	213;268;273	F5H6T1;P61160;E9PF41	.;ARP2_HUMAN;.	L	268;213;273;213	ENSP00000260641:P268L;ENSP00000437383:P213L;ENSP00000367220:P273L	ENSP00000260641:P268L	P	+	2	0	ACTR2	65341952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.633000	0.89246	0.591000	0.81541	CCT		0.413	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251730.1	NM_001005386		T	65488448	C	T	65488448	3	4	486	1	0	0	0	0	1	0	0	0	211	681	24	2	848	2	ACTR2	2	65488448	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	36192593	65488448	177710925	9	26237											
PNO1	56902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	68401898	68401898	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr2:68401898T>G	ENST00000263657.2	+	7	814	c.723T>G	c.(721-723)atT>atG	p.I241M	RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	241						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						ATGGCAATATTCGAGCTGTGG	0.408																																					NSCLC(83;642 1410 13044 32832 40058)											0													114	109	111					2																	68401898		2203	4300	6503	SO:0001583	missense	56902			AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"RNA binding protein"		"KH-type RNA binding protein 1", "KH-type RNA-binding protein 1"	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.723T>G	2.37:g.68401898T>G	ENSP00000263657:p.Ile241Met		A8K6Q0|Q53G13|Q8WVB8	Missense_Mutation	SNP	ENST00000263657.2	37	CCDS1885.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416390	0.42918	.	.	ENSG00000115946	ENST00000263657	T	0.42513	0.97	5.93	-2.28	0.06826	.	0.047155	0.85682	D	0.000000	T	0.12987	0.0315	N	0.01242	-0.935	0.44899	D	0.997919	B	0.14805	0.011	B	0.19148	0.024	T	0.04495	-1.0947	10	0.42905	T	0.14	0.1491	7.1917	0.25828	0.1121:0.4163:0.0:0.4716	.	241	Q9NRX1	PNO1_HUMAN	M	241	ENSP00000263657:I241M	ENSP00000263657:I241M	I	+	3	3	PNO1	68255402	0.665000	0.27466	0.966000	0.40874	0.981000	0.71138	-0.120000	0.10660	-0.308000	0.08792	0.533000	0.62120	ATT		0.408	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		G	68401898	T	G	68401898	3	3	486	1	0	0	0	0	1	0	0	0	12163	1771	62	5	749	5	PNO1	2	68401898	Missense_Mutation	SNP	T	TCGA-CJ-4634-01A-02D-1386-10	2913450	68401898	174797475	10	26238											
DYSF	8291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	71896302	71896302	+	Silent	SNP	C	C	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr2:71896302C>A	ENST00000258104.3	+	49	5767	c.5490C>A	c.(5488-5490)ctC>ctA	p.L1830L	DYSF_ENST00000409651.1_Silent_p.L1862L|DYSF_ENST00000410041.1_Silent_p.L1848L|DYSF_ENST00000429174.2_Silent_p.L1851L|DYSF_ENST00000413539.2_Silent_p.L1861L|DYSF_ENST00000409744.1_Silent_p.L1838L|DYSF_ENST00000409582.3_Silent_p.L1868L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Silent_p.L1847L|DYSF_ENST00000409366.1_Silent_p.L1852L|DYSF_ENST00000394120.2_Silent_p.L1831L|DYSF_ENST00000410020.3_Silent_p.L1869L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1830	C2 7. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCTGAGCCTCACGGGGGAGA	0.527																																																0													62	55	57					2																	71896302		2203	4300	6503	SO:0001819	synonymous_variant	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5490C>A	2.37:g.71896302C>A			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																				0.527	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		A	71896302	C	A	71896302	2	1	486	1	0	0	0	0	0	0	0	1	4861	813	29	4		4	DYSF	2	71896302	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	3494404	71896302	171303071	11	26239											
NAT8	9027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73868466	73868467	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr2:73868466_73868467insT	ENST00000272425.3	-	2	438_439	c.289_290insA	c.(289-291)attfs	p.I97fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGATTTGGTAATGTCAGACATG	0.54																																																0																																										SO:0001589	frameshift_variant	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.290dupA	2.37:g.73868467_73868467dupT	ENSP00000272425:p.Ile97fs			Frame_Shift_Ins	INS	ENST00000272425.3	37	CCDS1926.1																																																																																				0.54	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		T	73868467	-	T	73868466	7	5	486	1	0	1	1	0	0	0	0	0	10181	101	4	0	397	0	NAT8	2	73868466	Frame_Shift_Ins	INS	-	TCGA-CJ-4634-01A-02D-1386-10	1972164	73868466	169330907	12	26240											
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141806678	141806678	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr2:141806678C>T	ENST00000389484.3	-	11	2637	c.1666G>A	c.(1666-1668)Gta>Ata	p.V556I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	556					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGAGGGTTTACCAGATTTTCT	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													195	190	192					2																	141806678		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1666G>A	2.37:g.141806678C>T	ENSP00000374135:p.Val556Ile		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618061	0.28801	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91011	-2.77	5.49	4.62	0.57501	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000005	D	0.86916	0.6048	L	0.59436	1.845	0.48185	D	0.999604	P	0.43287	0.802	B	0.34931	0.192	D	0.85667	0.1292	10	0.36615	T	0.2	.	14.2715	0.66154	0.0:0.9283:0.0:0.0717	.	556	Q9NZR2	LRP1B_HUMAN	I	556;494	ENSP00000374135:V556I	ENSP00000374135:V556I	V	-	1	0	LRP1B	141523148	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	3.241000	0.51376	1.316000	0.45131	-0.253000	0.11424	GTA		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141806678	C	T	141806678	3	4	486	1	0	0	0	0	1	0	0	0	8957	507	18	2	12457	2	LRP1B	2	141806678	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	67938212	141806678	101392695	13	26241											
NIF3L1	60491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201761932	201761932	+	Missense_Mutation	SNP	C	C	A	rs368107216		TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr2:201761932C>A	ENST00000409020.1	+	5	1154	c.860C>A	c.(859-861)aCc>aAc	p.T287N	NIF3L1_ENST00000409588.1_Intron|NIF3L1_ENST00000359683.4_Missense_Mutation_p.T260N|NIF3L1_ENST00000416651.1_Missense_Mutation_p.T287N|RNU6-762P_ENST00000517107.1_RNA|NIF3L1_ENST00000409357.1_Missense_Mutation_p.T287N			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	287					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GTGGGGAGAACCTTAGGTAAA	0.403																																																0								C	ASN/THR,ASN/THR,,ASN/THR	0,3784		0,0,1892	109	101	103		860,779,,779	5.1	1	2		103	1,8231		0,1,4115	no	missense,missense,intron,missense	NIF3L1	NM_001136039.2,NM_001142355.1,NM_001142356.1,NM_021824.3	65,65,,65	0,1,6007	AA,AC,CC		0.0121,0.0,0.0083	possibly-damaging,possibly-damaging,,possibly-damaging	287/378,260/351,,260/351	201761932	1,12015	1892	4116	6008	SO:0001583	missense	60491			AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1", "NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.860C>A	2.37:g.201761932C>A	ENSP00000386394:p.Thr287Asn		Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	CCDS46485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.93|19.93	3.918994|3.918994	0.73098|0.73098	0.0|0.0	1.21E-4|1.21E-4	ENSG00000196290|ENSG00000196290	ENST00000436412|ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357	.|T;T;T;T	.|0.40476	.|1.03;1.03;1.03;1.03	6.01|6.01	5.12|5.12	0.69794|0.69794	.|.	.|0.046740	.|0.85682	.|D	.|0.000000	T|T	0.51873|0.51873	0.1700|0.1700	L|L	0.52266|0.52266	1.64|1.64	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.59767	.|0.986	.|P	.|0.58172	.|0.834	T|T	0.45264|0.45264	-0.9273|-0.9273	5|10	.|0.12430	.|T	.|0.62	-9.805|-9.805	17.1257|17.1257	0.86713|0.86713	0.0:0.8733:0.1266:0.0|0.0:0.8733:0.1266:0.0	.|.	.|287	.|Q9GZT8	.|NIF3L_HUMAN	T|N	46|287;287;260;287	.|ENSP00000400787:T287N;ENSP00000386394:T287N;ENSP00000352711:T260N;ENSP00000387315:T287N	.|ENSP00000352711:T260N	P|T	+|+	1|2	0|0	NIF3L1|NIF3L1	201470177|201470177	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.969000|0.969000	0.65631|0.65631	3.740000|3.740000	0.55082|0.55082	1.508000|1.508000	0.48769|0.48769	0.655000|0.655000	0.94253|0.94253	CCT|ACC		0.403	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		A	201761932	C	A	201761932	3	1	486	1	0	0	0	0	1	0	0	0	10418	507	18	4	874	4	NIF3L1	2	201761932	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	59955254	201761932	41437441	14	26242											
USP37	57695	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219423354	219423354	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr2:219423354C>A	ENST00000258399.3	-	4	435	c.23G>T	c.(22-24)gGt>gTt	p.G8V	USP37_ENST00000415516.1_Intron|USP37_ENST00000338465.5_Missense_Mutation_p.G8V|USP37_ENST00000418019.1_Missense_Mutation_p.G8V|USP37_ENST00000454775.1_Missense_Mutation_p.G8V	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	8					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TCTGATAGGACCATGTATCTT	0.343																																																0													142	152	149					2																	219423354		2203	4299	6502	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.23G>T	2.37:g.219423354C>A	ENSP00000258399:p.Gly8Val		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555395	0.86231	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000418019;ENST00000338465	T;T;T;T	0.62498	0.06;0.06;0.06;0.02	6.06	6.06	0.98353	.	0.047393	0.85682	D	0.000000	T	0.80423	0.4620	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80317	-0.1433	10	0.87932	D	0	-19.8214	20.6397	0.99537	0.0:1.0:0.0:0.0	.	8;8	Q86W68;Q86T82	.;UBP37_HUMAN	V	8	ENSP00000258399:G8V;ENSP00000393662:G8V;ENSP00000396585:G8V;ENSP00000345043:G8V	ENSP00000258399:G8V	G	-	2	0	USP37	219131598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.296000	0.65698	2.880000	0.98712	0.650000	0.86243	GGT		0.343	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		A	219423354	C	A	219423354	3	1	486	1	0	0	0	0	1	0	0	0	17073	507	18	4	3008	4	USP37	2	219423354	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	17661422	219423354	23776019	15	26243											
SETD5	55209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9486834	9486834	+	Silent	SNP	A	A	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr3:9486834A>C	ENST00000406341.1	+	11	1480	c.1290A>C	c.(1288-1290)ccA>ccC	p.P430P	SETD5_ENST00000302463.6_Silent_p.P332P|SETD5_ENST00000402466.1_Silent_p.P332P|SETD5_ENST00000402198.1_Silent_p.P430P|SETD5_ENST00000407969.1_Silent_p.P449P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	430										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CACCTCCTCCAAGCCTACCCA	0.473																																																0													78	80	79					3																	9486834		1954	4148	6102	SO:0001819	synonymous_variant	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1290A>C	3.37:g.9486834A>C			Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513687	0.27123	.	.	ENSG00000168137	ENST00000399686	.	.	.	5.63	1.36	0.22044	.	.	.	.	.	T	0.54029	0.1833	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44832	-0.9302	4	.	.	.	-5.1411	6.845	0.23982	0.4891:0.2883:0.0:0.2226	.	.	.	.	Q	98	.	.	K	+	1	0	SETD5	9461834	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.974000	0.29436	0.436000	0.26393	0.533000	0.62120	AAG		0.473	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		C	9486834	A	C	9486834	2	2	486	1	0	0	0	0	0	0	0	1	14140	117	5	5		5	SETD5	3	9486834	Silent	SNP	A	TCGA-CJ-4634-01A-02D-1386-10		9486834	188535596	16	26244											
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10188296	10188297	+	Frame_Shift_Ins	INS	-	-	TTTT			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr3:10188296_10188297insTTTT	ENST00000256474.2	+	2	1279_1280	c.439_440insTTTT	c.(439-441)attfs	p.-148fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I147fs*12(4)|p.A149fs*25(4)|p.F148fs*11(4)|p.I147fs*27(2)|p.I147fs*13(1)|p.I147fs*25(1)|p.I147fs*11(1)|p.I147fs*26(1)|p.I147_F148del(1)|p.I147fs*10(1)|p.F148fs*25(1)|p.P146fs*23(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGGACAGCCTATTTTTGCCAAT	0.416		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	23	Deletion - Frameshift(15)|Insertion - Frameshift(6)|Complex - frameshift(1)|Deletion - In frame(1)	kidney(23)	GRCh37	CM982009	VHL	M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.440_443dupTTTT	3.37:g.10188297_10188300dupTTTT	ENSP00000256474:p.Phe148fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.416	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		TTTT	10188297	-	TTTT	10188296	7	5	486	1	0	1	1	0	0	0	0	0	17167	449	16	0	445	0	VHL	3	10188296	Frame_Shift_Ins	INS	-	TCGA-CJ-4634-01A-02D-1386-10	701462	10188296	187834134	17	26245											
CELSR3	1951	broad.mit.edu	37	3	48682639	48682639	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr3:48682639C>G	ENST00000164024.4	-	25	8081	c.7801G>C	c.(7801-7803)Gtg>Ctg	p.V2601L	CELSR3_ENST00000544264.1_Missense_Mutation_p.V2606L|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2601					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCAGTGCACACCAGCTGAGGG	0.627																																																0													51	50	50					3																	48682639		2200	4296	6496	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7801G>C	3.37:g.48682639C>G	ENSP00000164024:p.Val2601Leu		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	2.261	-0.369316	0.05069	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.33654	1.4;1.4	4.5	-0.524	0.11920	GPCR, family 2-like (1);	.	.	.	.	T	0.18045	0.0433	N	0.02736	-0.51	0.24266	N	0.995261	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.31888	-0.9927	9	0.07325	T	0.83	.	22.6753	0.99975	0.0:0.1286:0.8714:0.0	.	2601;2698	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	L	2601;2606	ENSP00000164024:V2601L;ENSP00000445694:V2606L	ENSP00000164024:V2601L	V	-	1	0	CELSR3	48657643	0.525000	0.26290	0.988000	0.46212	0.992000	0.81027	-0.338000	0.07842	-0.686000	0.05170	0.561000	0.74099	GTG		0.627	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		G	48682639	C	G	48682639	3	3	486	1	0	0	0	0	1	0	0	0	3225	507	18	4	2181	4	CELSR3	3	48682639	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	38494343	48682639	149339791	18	26246											
MON1A	84315	broad.mit.edu	37	3	49948281	49948281	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr3:49948281A>T	ENST00000417270.1	-	5	1367	c.674T>A	c.(673-675)cTg>cAg	p.L225Q	MON1A_ENST00000483022.1_5'Flank|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.L314Q|MON1A_ENST00000455683.2_Missense_Mutation_p.L152Q			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	217										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CACTAGCACCAGCGGGCTCCG	0.607																																																0													26	27	27					3																	49948281		2202	4297	6499	SO:0001583	missense	84315			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.674T>A	3.37:g.49948281A>T	ENSP00000399613:p.Leu225Gln		B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37		.	.	.	.	.	.	.	.	.	.	A	26.7	4.766179	0.90020	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.90020	0.4127	8	.	.	.	-11.0199	15.8145	0.78589	1.0:0.0:0.0:0.0	.	55;152;217	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	Q	314;225;152	.	.	L	-	2	0	MON1A	49923285	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	9.297000	0.96120	2.144000	0.66660	0.454000	0.30748	CTG		0.607	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		T	49948281	A	T	49948281	3	4	486	1	0	0	0	0	1	0	0	0	9700	188	7	5	1029	5	MON1A	3	49948281	Missense_Mutation	SNP	A	TCGA-CJ-4634-01A-02D-1386-10	1265642	49948281	148074149	19	26247											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52651513	52651513	+	Missense_Mutation	SNP	T	T	A	rs201580633		TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr3:52651513T>A	ENST00000296302.7	-	14	1584	c.1583A>T	c.(1582-1584)aAt>aTt	p.N528I	PBRM1_ENST00000337303.4_Missense_Mutation_p.N528I|PBRM1_ENST00000409057.1_Missense_Mutation_p.N528I|PBRM1_ENST00000356770.4_Missense_Mutation_p.N496I|PBRM1_ENST00000409114.3_Missense_Mutation_p.N543I|PBRM1_ENST00000394830.3_Missense_Mutation_p.N528I|PBRM1_ENST00000409767.1_Missense_Mutation_p.N543I|PBRM1_ENST00000410007.1_Missense_Mutation_p.N528I			Q86U86	PB1_HUMAN	polybromo 1	528					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N528fs*41(2)|p.N496fs*41(1)|p.N528I(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAGAACAACATTGAATAAGAT	0.348			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	4	Deletion - Frameshift(3)|Substitution - Missense(1)	kidney(3)|upper_aerodigestive_tract(1)											80	80	80					3																	52651513		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1583A>T	3.37:g.52651513T>A	ENSP00000296302:p.Asn528Ile		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	20.6	4.021491	0.75275	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.84	5.84	0.93424	Bromodomain (3);	0.150483	0.64402	D	0.000013	T	0.20251	0.0487	N	0.08118	0	0.58432	D	0.999999	D;P;D;D;P;P;D;P;P	0.63046	0.992;0.95;0.978;0.982;0.785;0.768;0.969;0.939;0.939	P;P;P;P;B;B;P;P;P	0.59703	0.862;0.805;0.743;0.815;0.289;0.44;0.693;0.743;0.679	T	0.18713	-1.0328	10	0.41790	T	0.15	-26.4922	16.2167	0.82231	0.0:0.0:0.0:1.0	.	528;528;528;528;543;543;528;496;528	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	I	496;528;528;528;528;528;543;543;528;487	ENSP00000349213:N496I;ENSP00000378307:N528I;ENSP00000296302:N528I;ENSP00000338302:N528I;ENSP00000386593:N528I;ENSP00000386529:N528I;ENSP00000386643:N543I;ENSP00000386601:N543I;ENSP00000387775:N528I;ENSP00000397662:N487I	ENSP00000296302:N528I	N	-	2	0	PBRM1	52626553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.578000	0.46051	2.231000	0.72958	0.533000	0.62120	AAT		0.348	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52651513	T	A	52651513	3	1	486	1	0	0	0	0	1	0	0	0	11493	1493	52	5	3385	5	PBRM1	3	52651513	Missense_Mutation	SNP	T	TCGA-CJ-4634-01A-02D-1386-10	2703232	52651513	145370917	20	26248											
ITIH4	3700	broad.mit.edu;hgsc.bcm.edu	37	3	52858241	52858241	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr3:52858241A>T	ENST00000266041.4	-	9	1232	c.1136T>A	c.(1135-1137)cTc>cAc	p.L379H	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.L379H|ITIH4_ENST00000346281.5_Missense_Mutation_p.L379H|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000485816.1_Missense_Mutation_p.L379H|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000434759.3_Missense_Mutation_p.L291H	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	379	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAGGATGATGAGTGAGACACT	0.632																																																0													85	78	80					3																	52858241		2203	4300	6503	SO:0001583	missense	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1136T>A	3.37:g.52858241A>T	ENSP00000266041:p.Leu379His		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424059	0.62733	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	4.78	4.78	0.61160	von Willebrand factor, type A (3);	0.309765	0.26377	N	0.024734	D	0.89677	0.6784	L	0.50847	1.595	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	D;D;D;D	0.77004	0.989;0.974;0.968;0.979	D	0.90709	0.4626	10	0.87932	D	0	-17.5675	13.9898	0.64359	1.0:0.0:0.0:0.0	.	379;379;379;379	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	H	379;379;379;379;367;291	ENSP00000266041:L379H;ENSP00000340520:L379H;ENSP00000417824:L379H;ENSP00000384425:L379H;ENSP00000440036:L291H	ENSP00000266041:L379H	L	-	2	0	ITIH4	52833281	0.995000	0.38212	0.892000	0.35008	0.275000	0.26752	5.841000	0.69409	1.795000	0.52594	0.379000	0.24179	CTC		0.632	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		T	52858241	A	T	52858241	3	4	486	1	0	0	0	0	1	0	0	0	7908	304	11	5	1720	5	ITIH4	3	52858241	Missense_Mutation	SNP	A	TCGA-CJ-4634-01A-02D-1386-10	206728	52858241	145164189	21	26249											
MAGI1	9223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	65415803	65415805	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	ACA	ACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr3:65415803_65415805delACA	ENST00000497477.2	-	12	1556_1558	c.1557_1559delTGT	c.(1555-1560)attgta>ata	p.V520del	MAGI1_ENST00000330909.8_In_Frame_Del_p.V520del|MAGI1_ENST00000402939.2_In_Frame_Del_p.V520del|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_In_Frame_Del_p.V520del			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	520	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATTCACACTTACAATCACATCCC	0.448																																																0																																										SO:0001651	inframe_deletion	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1557_1559delTGT	3.37:g.65415803_65415805delACA	ENSP00000424369:p.Val520del		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	In_Frame_Del	DEL	ENST00000497477.2	37																																																																																					0.448	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		-	65415805	ACA	-	65415803	7	5	486	1	0	1	0	1	0	0	0	0	9192	391	14	0	3111	0	MAGI1	3	65415803	In_Frame_Del	DEL	ACA	TCGA-CJ-4634-01A-02D-1386-10	12557562	65415803	132606627	22	26250											
YEATS2	55689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	183490251	183490251	+	Silent	SNP	G	G	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr3:183490251G>C	ENST00000305135.5	+	16	2301	c.2106G>C	c.(2104-2106)gtG>gtC	p.V702V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	702					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAGCAATTGTGAGTGGAGGTG	0.547																																																0													99	97	98					3																	183490251		2004	4171	6175	SO:0001819	synonymous_variant	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2106G>C	3.37:g.183490251G>C			A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	CCDS43175.1																																																																																				0.547	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		C	183490251	G	C	183490251	2	2	486	1	0	0	0	0	0	0	0	1	17477	1277	45	4		4	YEATS2	3	183490251	Silent	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	118074448	183490251	14532179	23	26251											
TMEM129	92305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1719303	1719303	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr4:1719303G>C	ENST00000382936.3	-	3	1273	c.780C>G	c.(778-780)ttC>ttG	p.F260L	TMEM129_ENST00000536901.1_Missense_Mutation_p.F260L|TMEM129_ENST00000303277.2_Intron	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129, E3 ubiquitin protein ligase	260					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			ATGTCTCCAGGAACAGGTCGC	0.672																																																0													59	68	65					4																	1719303		692	1591	2283	SO:0001583	missense	92305			BC009331	CCDS3351.1, CCDS46998.1	4p16.3	2014-07-25	2014-07-25		ENSG00000168936	ENSG00000168936			25137	protein-coding gene	gene with protein product		615975	"transmembrane protein 129"			24807418, 25030448	Standard	NM_138385		Approved	D4S2561E	uc003gdn.3	A0AVI4	OTTHUMG00000121150	ENST00000382936.3:c.780C>G	4.37:g.1719303G>C	ENSP00000372394:p.Phe260Leu		A6NH49|A6NI98|D3DVP8	Missense_Mutation	SNP	ENST00000382936.3	37	CCDS46998.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701961	0.68501	.	.	ENSG00000168936	ENST00000382936;ENST00000536901	T;T	0.46451	0.87;0.87	4.39	2.17	0.27698	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.88775	2.98	0.53688	D	0.999979	D	0.71674	0.998	D	0.68943	0.961	T	0.66760	-0.5842	10	0.87932	D	0	-13.9893	8.3122	0.32077	0.315:0.0:0.685:0.0	.	260	A0AVI4	TM129_HUMAN	L	260	ENSP00000372394:F260L;ENSP00000441812:F260L	ENSP00000372394:F260L	F	-	3	2	TMEM129	1689101	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.227000	0.32576	0.809000	0.34255	0.555000	0.69702	TTC		0.672	TMEM129-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350724.1	NM_138385		C	1719303	G	C	1719303	3	2	486	1	0	0	0	0	1	0	0	0	16047	1165	41	4	316	4	TMEM129	4	1719303	Missense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10		1719303	189434973	24	26252											
CCNG2	901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	78085544	78085544	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr4:78085544C>T	ENST00000316355.5	+	7	1179	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	CCNG2_ENST00000502280.1_Missense_Mutation_p.R275C|CCNG2_ENST00000395640.1_Missense_Mutation_p.R275C|CCNG2_ENST00000354403.5_Missense_Mutation_p.R275C|CCNG2_ENST00000509972.1_Missense_Mutation_p.R275C|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	275					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CGTTTCAAGGCGCACAGCCCA	0.468																																																0													85	85	85					4																	78085544		2203	4300	6503	SO:0001583	missense	901			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.823C>T	4.37:g.78085544C>T	ENSP00000315743:p.Arg275Cys		B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	ENST00000316355.5	37	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915837	0.73098	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000509972	T;T;T;T;T	0.25749	1.78;1.86;1.78;1.78;1.92	5.56	5.56	0.83823	.	0.108032	0.64402	D	0.000005	T	0.54334	0.1852	M	0.73962	2.25	0.80722	D	1	P;D	0.89917	0.937;1.0	B;D	0.75484	0.302;0.986	T	0.56854	-0.7910	10	0.87932	D	0	-6.4768	19.5209	0.95184	0.0:1.0:0.0:0.0	.	275;275	B4DF25;Q16589	.;CCNG2_HUMAN	C	275	ENSP00000315743:R275C;ENSP00000346379:R275C;ENSP00000424665:R275C;ENSP00000379002:R275C;ENSP00000426476:R275C	ENSP00000315743:R275C	R	+	1	0	CCNG2	78304568	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	2.289000	0.43523	2.614000	0.88457	0.561000	0.74099	CGC		0.468	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		T	78085544	C	T	78085544	3	4	486	1	0	0	0	0	1	0	0	0	2926	768	27	1	845	1	CCNG2	4	78085544	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	76366241	78085544	113068732	25	26253											
TRAM1L1	133022	broad.mit.edu;ucsc.edu	37	4	118005673	118005673	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr4:118005673C>A	ENST00000310754.4	-	1	1063	c.877G>T	c.(877-879)Gtg>Ttg	p.V293L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	293	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GCTGCCAACACATTTACATTT	0.458																																																0													104	93	97					4																	118005673		2203	4300	6503	SO:0001583	missense	133022			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.877G>T	4.37:g.118005673C>A	ENSP00000309402:p.Val293Leu		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265934	0.40095	.	.	ENSG00000174599	ENST00000310754	D	0.83075	-1.68	3.74	3.74	0.42951	TRAM/LAG1/CLN8 homology domain (3);	0.296909	0.32190	N	0.006453	T	0.79667	0.4485	L	0.54323	1.7	0.33557	D	0.596879	P	0.39376	0.67	B	0.43194	0.411	D	0.85008	0.0904	10	0.72032	D	0.01	-25.7866	7.3349	0.26605	0.0:0.8838:0.0:0.1161	.	293	Q8N609	TR1L1_HUMAN	L	293	ENSP00000309402:V293L	ENSP00000309402:V293L	V	-	1	0	TRAM1L1	118225121	0.101000	0.21875	0.954000	0.39281	0.561000	0.35649	0.538000	0.23160	2.385000	0.81259	0.650000	0.86243	GTG		0.458	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		A	118005673	C	A	118005673	3	1	486	1	0	0	0	0	1	0	0	0	16457	478	17	4	236	4	TRAM1L1	4	118005673	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	39920129	118005673	73148603	26	26254											
ZNF827	152485	broad.mit.edu	37	4	146824030	146824030	+	Silent	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr4:146824030C>T	ENST00000508784.1	-	2	608	c.381G>A	c.(379-381)ctG>ctA	p.L127L	ZNF827_ENST00000379448.4_Silent_p.L127L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AACCAGCCTCCAGCAGCCGCC	0.582																																																0													39	39	39					4																	146824030		2203	4300	6503	SO:0001819	synonymous_variant	152485			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.381G>A	4.37:g.146824030C>T			B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37																																																																																					0.582	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		T	146824030	C	T	146824030	2	4	486	1	0	0	0	0	0	0	0	1	18185	581	21	2		2	ZNF827	4	146824030	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	28818357	146824030	44330246	27	26255											
IQGAP2	10788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	75886273	75886273	+	Silent	SNP	A	A	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr5:75886273A>G	ENST00000274364.6	+	8	978	c.681A>G	c.(679-681)aaA>aaG	p.K227K	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	227					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAGTTGAAAAAGGAATAGCAG	0.378																																																0													109	110	110					5																	75886273		2203	4300	6503	SO:0001819	synonymous_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.681A>G	5.37:g.75886273A>G			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	CCDS34188.1																																																																																				0.378	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		G	75886273	A	G	75886273	2	3	486	1	0	0	0	0	0	0	0	1	7817	69	3	3		3	IQGAP2	5	75886273	Silent	SNP	A	TCGA-CJ-4634-01A-02D-1386-10		75886273	105028987	28	26256											
CCNH	902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	86695281	86695281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr5:86695281C>A	ENST00000256897.4	-	7	1026	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	CCNH_ENST00000504878.1_Nonsense_Mutation_p.E194*|CCNH_ENST00000508855.1_Nonsense_Mutation_p.E194*	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	268					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		GCAACTTCTTCAGATCTGGGT	0.368								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																								0													232	205	214					5																	86695281		2203	4300	6503	SO:0001587	stop_gained	902			U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"General transcription factor IIH complex subunits"	1594	protein-coding gene	gene with protein product	"CDK-activating kinase complex subunit", "cyclin-dependent kinase-activating kinase complex subunit", "MO15-associated protein", "CAK complex subunit"	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.802G>T	5.37:g.86695281C>A	ENSP00000256897:p.Glu268*		Q53X72|Q8TBL9	Nonsense_Mutation	SNP	ENST00000256897.4	37	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	C	43	9.995035	0.99313	.	.	ENSG00000134480	ENST00000508855;ENST00000256897;ENST00000504878	.	.	.	5.68	5.68	0.88126	.	0.089115	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-15.2394	19.7923	0.96464	0.0:1.0:0.0:0.0	.	.	.	.	X	194;268;194	.	ENSP00000256897:E268X	E	-	1	0	CCNH	86731037	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.383000	0.66219	2.693000	0.91896	0.655000	0.94253	GAA		0.368	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		A	86695281	C	A	86695281	4	1	486	1	0	0	0	0	0	1	0	0	2927	835	29	4	181	4	CCNH	5	86695281	Nonsense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	10809008	86695281	94219979	29	26257											
SLC27A6	28965	broad.mit.edu;ucsc.edu	37	5	128321007	128321007	+	Silent	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr5:128321007C>T	ENST00000262462.4	+	2	1673	c.663C>T	c.(661-663)taC>taT	p.Y221Y	SLC27A6_ENST00000506176.1_Silent_p.Y221Y|SLC27A6_ENST00000395266.1_Silent_p.Y221Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	221					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTTGTCTTTACATTTTTACCT	0.418																																																0													109	91	97					5																	128321007		2203	4300	6503	SO:0001819	synonymous_variant	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.663C>T	5.37:g.128321007C>T			Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	CCDS4145.1																																																																																				0.418	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		T	128321007	C	T	128321007	2	4	486	1	0	0	0	0	0	0	0	1	14536	489	17	2		2	SLC27A6	5	128321007	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	41625726	128321007	52594253	30	26258											
SLC23A1	9963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138713670	138713670	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr5:138713670T>G	ENST00000348729.3	-	12	1493	c.1447A>C	c.(1447-1449)Aat>Cat	p.N483H	SLC23A1_ENST00000503919.1_5'Flank|SLC23A1_ENST00000353963.3_Missense_Mutation_p.N487H	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	483					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GCACCTGTATTGATGGCGCCA	0.562																																																0													43	41	41					5																	138713670		2203	4300	6503	SO:0001583	missense	9963			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1447A>C	5.37:g.138713670T>G	ENSP00000302701:p.Asn483His		O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.465361	0.43839	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000339881	T;T	0.19250	2.17;2.16	5.83	3.45	0.39498	.	0.322792	0.41097	D	0.000955	T	0.14830	0.0358	L	0.38175	1.15	0.40789	D	0.983246	P;B	0.46395	0.877;0.009	B;B	0.41723	0.365;0.02	T	0.06752	-1.0809	10	0.37606	T	0.19	-10.7989	5.3382	0.15969	0.0:0.2154:0.1382:0.6465	.	483;487	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	H	487;483;144	ENSP00000302851:N487H;ENSP00000302701:N483H	ENSP00000343584:N144H	N	-	1	0	SLC23A1	138741569	0.998000	0.40836	1.000000	0.80357	0.940000	0.58332	0.435000	0.21510	0.479000	0.27511	0.459000	0.35465	AAT		0.562	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		G	138713670	T	G	138713670	3	3	486	1	0	0	0	0	1	0	0	0	14468	1812	63	5	361	5	SLC23A1	5	138713670	Missense_Mutation	SNP	T	TCGA-CJ-4634-01A-02D-1386-10	10392663	138713670	42201590	31	26259											
PCDHB6	56130	broad.mit.edu;hgsc.bcm.edu	37	5	140531176	140531176	+	Silent	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr5:140531176C>T	ENST00000231136.1	+	1	1338	c.1338C>T	c.(1336-1338)gtC>gtT	p.V446V	PCDHB6_ENST00000543635.1_Silent_p.V310V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	446	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> A (in dbSNP:rs246707). {ECO:0000269|PubMed:14702039}.		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGACAACGTCCCCGCCTTCA	0.577																																																0													105	109	107					5																	140531176		2203	4300	6503	SO:0001819	synonymous_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1338C>T	5.37:g.140531176C>T			B2R8R9	Silent	SNP	ENST00000231136.1	37	CCDS4248.1																																																																																				0.577	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		T	140531176	C	T	140531176	2	4	486	1	0	0	0	0	0	0	0	1	11548	842	30	2		2	PCDHB6	5	140531176	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	1817506	140531176	40384084	32	26260											
KIF4B	285643	hgsc.bcm.edu;ucsc.edu	37	5	154395061	154395061	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr5:154395061delA	ENST00000435029.4	+	1	1802	c.1642delA	c.(1642-1644)aacfs	p.N548fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	548					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAGAACGACAACCAACTACA	0.418																																																0													70	71	71					5																	154395061		2201	4300	6501	SO:0001589	frameshift_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1642delA	5.37:g.154395061delA	ENSP00000387875:p.Asn548fs			Frame_Shift_Del	DEL	ENST00000435029.4	37	CCDS47324.1																																																																																				0.418	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			-	154395061	A	-	154395061	7	5	486	1	0	1	0	1	0	0	0	0	8306	130	5	0	1644	0	KIF4B	5	154395061	Frame_Shift_Del	DEL	A	TCGA-CJ-4634-01A-02D-1386-10	13863885	154395061	26520199	33	26261											
RIPK1	8737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	3081329	3081329	+	Silent	SNP	T	T	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr6:3081329T>C	ENST00000259808.4	+	4	736	c.438T>C	c.(436-438)gtT>gtC	p.V146V	RIPK1_ENST00000541791.1_Intron|RIPK1_ENST00000380409.2_Silent_p.V146V|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ATATCCTTGTTGATAATGACT	0.368																																																0													131	113	119					6																	3081329		2203	4300	6503	SO:0001819	synonymous_variant	8737			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.438T>C	6.37:g.3081329T>C			A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	CCDS4482.1																																																																																				0.368	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		C	3081329	T	C	3081329	2	2	486	1	0	0	0	0	0	0	0	1	13386	1799	63	3		3	RIPK1	6	3081329	Silent	SNP	T	TCGA-CJ-4634-01A-02D-1386-10		3081329	168033738	34	26262											
ERVFRDE1	405754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	11104942	11104942	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr6:11104942C>T	ENST00000472091.1	-	2	977	c.602G>A	c.(601-603)aGt>aAt	p.S201N	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.S201N	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	201					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						GTTTCGAGTACTGCATGAGCT	0.468																																																0													80	89	86					6																	11104942		2203	4300	6503	SO:0001583	missense	0			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.602G>A	6.37:g.11104942C>T	ENSP00000420174:p.Ser201Asn			Missense_Mutation	SNP	ENST00000472091.1	37	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	C	4.129	0.022144	0.08006	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.14893	2.47;2.47	0.225	0.225	0.15325	.	.	.	.	.	T	0.02418	0.0074	N	0.22421	0.69	0.09310	N	1	P	0.38110	0.618	B	0.28638	0.092	T	0.42207	-0.9465	8	0.27082	T	0.32	.	.	.	.	.	201	P60508	EFRD1_HUMAN	N	201	ENSP00000420174:S201N;ENSP00000444461:S201N	ENSP00000420174:S201N	S	-	2	0	ERVFRD-1	11212928	0.179000	0.23135	0.018000	0.16275	0.019000	0.09904	0.305000	0.19254	0.300000	0.22699	0.305000	0.20034	AGT		0.468	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		T	11104942	C	T	11104942	3	4	486	1	0	0	0	0	1	0	0	0	5248	565	20	2	1018	2	ERVFRDE1	6	11104942	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	8023613	11104942	160010125	35	26263											
PGBD1	84547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28269985	28269985	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr6:28269985C>T	ENST00000405948.2	+	7	2774	c.2354C>T	c.(2353-2355)gCt>gTt	p.A785V	PGBD1_ENST00000259883.3_Missense_Mutation_p.A785V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	785						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AACCCAGGTGCTTCTCTAGAC	0.418																																																0													73	73	73					6																	28269985		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2354C>T	6.37:g.28269985C>T	ENSP00000385213:p.Ala785Val		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	5.205	0.223378	0.09863	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01388	4.95;4.95	3.82	2.01	0.26516	.	0.746367	0.10442	U	0.674215	T	0.00412	0.0013	L	0.27053	0.805	0.09310	N	1	B	0.28439	0.212	B	0.27380	0.079	T	0.44952	-0.9294	10	0.33141	T	0.24	-22.9382	4.4377	0.11559	0.2222:0.6622:0.0:0.1156	.	785	Q96JS3	PGBD1_HUMAN	V	785	ENSP00000385213:A785V;ENSP00000259883:A785V	ENSP00000259883:A785V	A	+	2	0	PGBD1	28377964	0.000000	0.05858	0.003000	0.11579	0.423000	0.31445	0.581000	0.23819	0.566000	0.29273	-0.182000	0.12963	GCT		0.418	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			T	28269985	C	T	28269985	3	4	486	1	0	0	0	0	1	0	0	0	11782	797	28	2	2376	2	PGBD1	6	28269985	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	17165043	28269985	142845082	36	26264											
SLC22A7	10864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43267765	43267765	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr6:43267765C>T	ENST00000372585.5	+	5	883	c.788C>T	c.(787-789)gCt>gTt	p.A263V	SLC22A7_ENST00000372574.3_Missense_Mutation_p.A261V|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A261V|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	263					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTTCTGCTAGCTGTCACCCTG	0.597																																																0													193	146	162					6																	43267765		2203	4300	6503	SO:0001583	missense	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.788C>T	6.37:g.43267765C>T	ENSP00000361666:p.Ala263Val		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474342	0.43942	.	.	ENSG00000137204	ENST00000451757;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.329111	0.31566	N	0.007438	T	0.37156	0.0993	L	0.33093	0.98	0.80722	D	1	B;B;B	0.34349	0.45;0.395;0.395	B;B;B	0.42653	0.394;0.273;0.382	T	0.21518	-1.0243	10	0.26408	T	0.33	.	16.4222	0.83766	0.0:1.0:0.0:0.0	.	263;261;261	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	V	135;261;263;261	ENSP00000416052:A135V;ENSP00000361670:A261V;ENSP00000361666:A263V;ENSP00000361655:A261V	ENSP00000361655:A261V	A	+	2	0	SLC22A7	43375743	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	2.825000	0.48096	2.604000	0.88044	0.563000	0.77884	GCT		0.597	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			T	43267765	C	T	43267765	3	4	486	1	0	0	0	0	1	0	0	0	14465	797	28	2	802	2	SLC22A7	6	43267765	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	14997780	43267765	127847302	37	26265											
LRRC1	55227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	53787556	53787556	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr6:53787556A>C	ENST00000370888.1	+	14	1817	c.1540A>C	c.(1540-1542)Aat>Cat	p.N514H	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	514						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AAACGAGGTCAATCATGCCAT	0.468																																																0													235	241	239					6																	53787556		1986	4171	6157	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1540A>C	6.37:g.53787556A>C	ENSP00000359925:p.Asn514His		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573276	0.65765	.	.	ENSG00000137269	ENST00000370888	T	0.55588	0.51	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	L	0.36672	1.1	0.80722	D	1	D	0.56521	0.976	P	0.53450	0.726	T	0.47209	-0.9135	10	0.48119	T	0.1	.	15.5324	0.75974	1.0:0.0:0.0:0.0	.	514	Q9BTT6	LRRC1_HUMAN	H	514	ENSP00000359925:N514H	ENSP00000359925:N514H	N	+	1	0	LRRC1	53895515	1.000000	0.71417	0.996000	0.52242	0.621000	0.37620	6.967000	0.76079	2.266000	0.75297	0.533000	0.62120	AAT		0.468	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		C	53787556	A	C	53787556	3	2	486	1	0	0	0	0	1	0	0	0	8968	130	5	5	1594	5	LRRC1	6	53787556	Missense_Mutation	SNP	A	TCGA-CJ-4634-01A-02D-1386-10	10519791	53787556	117327511	38	26266											
WTAP	9589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160176079	160176079	+	Silent	SNP	C	C	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr6:160176079C>A	ENST00000358372.4	+	8	2384	c.627C>A	c.(625-627)atC>atA	p.I209I	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	209					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ACTTCATCATCCAGCTTGATG	0.448																																																0													51	49	50					6																	160176079		2203	4300	6503	SO:0001819	synonymous_variant	9589			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.627C>A	6.37:g.160176079C>A			Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	ENST00000358372.4	37	CCDS5266.1																																																																																				0.448	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		A	160176079	C	A	160176079	2	1	486	1	0	0	0	0	0	0	0	1	17414	845	30	4		4	WTAP	6	160176079	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	106388523	160176079	10938988	39	26267											
TRA2A	29896	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23547080	23547080	+	Silent	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr7:23547080C>T	ENST00000297071.4	-	5	816	c.600G>A	c.(598-600)gcG>gcA	p.A200A	TRA2A_ENST00000392502.4_Silent_p.A99A|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Silent_p.A99A	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	200	Linker.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TTGGTGTGTGCGCTCTCTTGG	0.418																																					Pancreas(121;2137 2973 46590)											0													256	242	247					7																	23547080		2203	4300	6503	SO:0001819	synonymous_variant	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.600G>A	7.37:g.23547080C>T			B4DUA9	Silent	SNP	ENST00000297071.4	37	CCDS5383.1																																																																																				0.418	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		T	23547080	C	T	23547080	2	4	486	1	0	0	0	0	0	0	0	1	16438	755	27	1		1	TRA2A	7	23547080	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10		23547080	135591583	40	26268											
NPC1L1	29881	broad.mit.edu;ucsc.edu	37	7	44561397	44561397	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr7:44561397T>G	ENST00000289547.4	-	12	2922	c.2867A>C	c.(2866-2868)gAc>gCc	p.D956A	NPC1L1_ENST00000546276.1_Missense_Mutation_p.D910A|NPC1L1_ENST00000381160.3_Missense_Mutation_p.D956A	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	956					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GTCAATGAAGTCATCCACCCA	0.607																																																0													89	78	82					7																	44561397		2203	4300	6503	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2867A>C	7.37:g.44561397T>G	ENSP00000289547:p.Asp956Ala		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.398250	0.83120	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.96802	-3.68;-3.68;-4.13	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.98495	0.9498	H	0.94925	3.6	0.54753	D	0.999985	D;D;D	0.89917	0.998;0.995;1.0	D;D;D	0.72338	0.927;0.962;0.977	D	0.99201	1.0873	10	0.52906	T	0.07	-47.4649	13.5245	0.61586	0.0:0.0:0.0:1.0	.	910;956;956	B7ZLE6;Q17RV5;D3DVK9	.;.;.	A	956;956;910	ENSP00000289547:D956A;ENSP00000370552:D956A;ENSP00000438033:D910A	ENSP00000289547:D956A	D	-	2	0	NPC1L1	44527922	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.892000	0.75644	2.090000	0.63153	0.533000	0.62120	GAC		0.607	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		G	44561397	T	G	44561397	3	3	486	1	0	0	0	0	1	0	0	0	10573	1667	58	5	1248	5	NPC1L1	7	44561397	Missense_Mutation	SNP	T	TCGA-CJ-4634-01A-02D-1386-10	21014317	44561397	114577266	41	26269											
TEX15	56154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	30702516	30702516	+	Missense_Mutation	SNP	C	C	T	rs148542296	byFrequency	TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr8:30702516C>T	ENST00000256246.2	-	1	4092	c.4018G>A	c.(4018-4020)Gct>Act	p.A1340T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1340					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.A1340T(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTCACTGCAGCGGCTGATAAC	0.388																																																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						C	THR/ALA	0,4406		0,0,2203	112	125	121		4018	-12.1	0	8	dbSNP_134	121	1,8599		0,1,4299	no	missense	TEX15	NM_031271.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1340/2790	30702516	1,13005	2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4018G>A	8.37:g.30702516C>T	ENSP00000256246:p.Ala1340Thr			Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	2.207	-0.381585	0.05000	0.0	1.16E-4	ENSG00000133863	ENST00000256246	T	0.22336	1.96	6.07	-12.1	0.00011	.	1.665860	0.02792	N	0.122133	T	0.06917	0.0176	N	0.01048	-1.04	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.48433	-0.9036	10	0.87932	D	0	.	13.3428	0.60555	0.0871:0.6824:0.0879:0.1426	.	1340	Q9BXT5	TEX15_HUMAN	T	1340	ENSP00000256246:A1340T	ENSP00000256246:A1340T	A	-	1	0	TEX15	30822058	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.978000	0.03778	-3.011000	0.00272	-3.029000	0.00073	GCT		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			T	30702516	C	T	30702516	3	4	486	1	0	0	0	0	1	0	0	0	15784	768	27	1	4367	1	TEX15	8	30702516	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10		30702516	115661506	42	26270											
XKR4	114786	broad.mit.edu	37	8	56015738	56015738	+	Silent	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr8:56015738C>T	ENST00000327381.6	+	1	790	c.690C>T	c.(688-690)ggC>ggT	p.G230G		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	230						integral component of membrane (GO:0016021)		p.G230G(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCAACAGCGGCAGCAACAGCA	0.647																																																1	Substitution - coding silent(1)	pancreas(1)											40	43	42					8																	56015738		2203	4297	6500	SO:0001819	synonymous_variant	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.690C>T	8.37:g.56015738C>T			Q96PZ8	Silent	SNP	ENST00000327381.6	37	CCDS34893.1																																																																																				0.647	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		T	56015738	C	T	56015738	2	4	486	1	0	0	0	0	0	0	0	1	17438	697	25	2		2	XKR4	8	56015738	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	25313222	56015738	90348284	43	26271											
PABPC1	26986	hgsc.bcm.edu	37	8	101719004	101719004	+	Missense_Mutation	SNP	G	G	A	rs62513924		TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr8:101719004G>A	ENST00000318607.5	-	11	2605	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.R448C|PABPC1_ENST00000522387.1_Missense_Mutation_p.R461C	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	493					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GCTGCAGGACGTGGACCCATT	0.423																																																0													47	45	46					8																	101719004		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1477C>T	8.37:g.101719004G>A	ENSP00000313007:p.Arg493Cys		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729404	0.69074	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658	T;T;T;T	0.51574	1.52;1.45;2.5;0.7	5.3	5.3	0.74995	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.000000	0.64402	D	0.000004	T	0.51092	0.1654	L	0.49513	1.565	0.80722	D	1	B;B;B	0.34399	0.452;0.452;0.452	B;B;B	0.39531	0.027;0.302;0.302	T	0.53830	-0.8383	10	0.62326	D	0.03	.	19.3206	0.94237	0.0:0.0:1.0:0.0	rs62513924	461;493;493	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	C	493;448;461;2;40	ENSP00000313007:R493C;ENSP00000429594:R448C;ENSP00000429395:R461C;ENSP00000428840:R40C	ENSP00000313007:R493C	R	-	1	0	PABPC1	101788180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.248000	0.78268	2.658000	0.90341	0.591000	0.81541	CGT		0.423	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101719004	G	A	101719004	3	1	486	1	0	0	0	0	1	0	0	0	11365	1145	40	1	449	1	PABPC1	8	101719004	Missense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	45703266	101719004	44645018	44	26272											
KLF9	687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	73028059	73028059	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr9:73028059C>A	ENST00000377126.2	-	1	1481	c.221G>T	c.(220-222)cGa>cTa	p.R74L		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	74					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CTGGATGGGTCGGTACTTGTT	0.592																																																0													129	94	106					9																	73028059		2203	4300	6503	SO:0001583	missense	687			BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	1123	protein-coding gene	gene with protein product		602902	"basic transcription element binding protein 1"	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.221G>T	9.37:g.73028059C>A	ENSP00000366330:p.Arg74Leu		B2R943|Q16196	Missense_Mutation	SNP	ENST00000377126.2	37	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054211	0.55218	.	.	ENSG00000119138	ENST00000377126	T	0.05199	3.48	4.85	4.85	0.62838	.	0.000000	0.51477	D	0.000094	T	0.05593	0.0147	N	0.19112	0.55	0.51233	D	0.999919	B	0.19817	0.039	B	0.15052	0.012	T	0.44467	-0.9326	10	0.26408	T	0.33	.	16.7593	0.85507	0.0:1.0:0.0:0.0	.	74	Q13886	KLF9_HUMAN	L	74	ENSP00000366330:R74L	ENSP00000366330:R74L	R	-	2	0	KLF9	72217879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.829000	0.48128	2.250000	0.74265	0.557000	0.71058	CGA		0.592	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		A	73028059	C	A	73028059	3	1	486	1	0	0	0	0	1	0	0	0	8355	884	31	4	521	4	KLF9	9	73028059	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10		73028059	68185372	45	26273											
COL15A1	1306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	101817583	101817583	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr9:101817583G>A	ENST00000375001.3	+	34	3544	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1041	Triple-helical region 7 (COL7).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGAAAAAGGAGAAAAAGGAGA	0.502																																																0													86	89	88					9																	101817583		2203	4300	6503	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3121G>A	9.37:g.101817583G>A	ENSP00000364140:p.Glu1041Lys		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346763	0.61073	.	.	ENSG00000204291	ENST00000375001	D	0.91180	-2.8	5.73	5.73	0.89815	.	0.564682	0.19910	N	0.103303	D	0.91573	0.7338	M	0.69185	2.1	0.51767	D	0.999931	P	0.52463	0.953	P	0.47603	0.551	D	0.91222	0.5007	10	0.45353	T	0.12	.	16.8192	0.85741	0.0:0.0:1.0:0.0	.	1041	P39059	COFA1_HUMAN	K	1041	ENSP00000364140:E1041K	ENSP00000364140:E1041K	E	+	1	0	COL15A1	100857404	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.558000	0.67319	2.722000	0.93159	0.655000	0.94253	GAA		0.502	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		A	101817583	G	A	101817583	3	1	486	1	0	0	0	0	1	0	0	0	3674	943	33	2	3255	2	COL15A1	9	101817583	Missense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	28789524	101817583	39395848	46	26274											
NUP214	8021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	134072982	134072982	+	Silent	SNP	C	C	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr9:134072982C>G	ENST00000359428.5	+	29	4245	c.4101C>G	c.(4099-4101)ggC>ggG	p.G1367G	NUP214_ENST00000483497.2_Silent_p.G193G|NUP214_ENST00000451030.1_Silent_p.G1368G|NUP214_ENST00000411637.2_Silent_p.G1357G|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1367	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGACGTCAGGCGTGCCCTCAG	0.542			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													115	116	116					9																	134072982		2203	4300	6503	SO:0001819	synonymous_variant	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4101C>G	9.37:g.134072982C>G			A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	CCDS6940.1																																																																																				0.542	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		G	134072982	C	G	134072982	2	3	486	1	0	0	0	0	0	0	0	1	10764	755	27	4		4	NUP214	9	134072982	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	32255399	134072982	7140449	47	26275											
LCN1	3933	hgsc.bcm.edu	37	9	138414015	138414016	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr9:138414015_138414016delCA	ENST00000263598.2	+	2	273_274	c.213_214delCA	c.(211-216)gtcaccfs	p.T72fs	LCN1_ENST00000371781.3_Frame_Shift_Del_p.T72fs	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	72					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AAGCCAAGGTCACCATGCTGTG	0.634																																																0																																										SO:0001589	frameshift_variant	3933				CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"Lipocalins"	6525	protein-coding gene	gene with protein product	"Von Ebner gland protein", "tear lipocalin", "lipocalin 1-like 2", "tear prealbumin"	151675	"lipocalin 1 (protein migrating faster than albumin, tear prealbumin)", "lipocalin 1 (tear prealbumin)"			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.213_214delCA	9.37:g.138414015_138414016delCA	ENSP00000263598:p.Thr72fs		Q5T8A1	Frame_Shift_Del	DEL	ENST00000263598.2	37	CCDS6991.1																																																																																				0.634	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		-	138414016	CA	-	138414015	7	5	486	1	0	1	0	1	0	0	0	0	8682	813	29	0	219	0	LCN1	9	138414015	Frame_Shift_Del	DEL	CA	TCGA-CJ-4634-01A-02D-1386-10	4341033	138414015	2799416	48	26276											
CAMSAP1	157922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	138713412	138713412	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr9:138713412C>T	ENST00000389532.4	-	11	3159	c.3095G>A	c.(3094-3096)aGt>aAt	p.S1032N	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S1043N|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S754N	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1032					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGCAGCGTACTGATGGTTTC	0.522																																																0													76	68	71					9																	138713412		2203	4300	6503	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3095G>A	9.37:g.138713412C>T	ENSP00000374183:p.Ser1032Asn		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	9.790	1.177777	0.21787	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15834	2.4;2.39;2.4	4.91	4.91	0.64330	.	0.131570	0.64402	D	0.000001	T	0.32941	0.0846	M	0.62723	1.935	0.40179	D	0.977279	P;P	0.41546	0.605;0.754	B;P	0.49829	0.18;0.623	T	0.12142	-1.0559	10	0.87932	D	0	-1.2085	18.4729	0.90781	0.0:1.0:0.0:0.0	.	1032;1043	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	N	1032;754;1043	ENSP00000374183:S1032N;ENSP00000312463:S754N;ENSP00000386420:S1043N	ENSP00000312463:S754N	S	-	2	0	CAMSAP1	137853233	1.000000	0.71417	0.996000	0.52242	0.018000	0.09664	5.917000	0.69989	2.413000	0.81919	0.655000	0.94253	AGT		0.522	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		T	138713412	C	T	138713412	3	4	486	1	0	0	0	0	1	0	0	0	2613	565	20	2	1741	2	CAMSAP1	9	138713412	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	299397	138713412	2500019	49	26277											
CUBN	8029	broad.mit.edu;ucsc.edu	37	10	17151672	17151672	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr10:17151672A>G	ENST00000377833.4	-	10	1143	c.1078T>C	c.(1078-1080)Tgc>Cgc	p.C360R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	360	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTGGGTGGCAGCCTCCATTA	0.463																																																0													189	130	150					10																	17151672		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1078T>C	10.37:g.17151672A>G	ENSP00000367064:p.Cys360Arg		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.594759	0.66219	.	.	ENSG00000107611	ENST00000377833	D	0.99903	-7.67	5.64	5.64	0.86602	EGF domain, merozoite surface protein 1-like (1);Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.49305	D	0.000144	D	0.99932	0.9969	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96276	0.9202	10	0.56958	D	0.05	.	14.7186	0.69289	1.0:0.0:0.0:0.0	.	360	O60494	CUBN_HUMAN	R	360	ENSP00000367064:C360R	ENSP00000367064:C360R	C	-	1	0	CUBN	17191678	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	8.257000	0.89851	2.276000	0.75962	0.455000	0.32223	TGC		0.463	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	17151672	A	G	17151672	3	3	486	1	0	0	0	0	1	0	0	0	4053	188	7	3	10025	3	CUBN	10	17151672	Missense_Mutation	SNP	A	TCGA-CJ-4634-01A-02D-1386-10		17151672	118383075	50	26278											
COL13A1	1305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	71692318	71692319	+	Nonsense_Mutation	DNP	AG	AG	TT			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr10:71692318_71692319AG>TT	ENST00000398978.3	+	30	2145_2146	c.1653_1654AG>TT	c.(1651-1656)ggAGag>ggTTag	p.E552*	COL13A1_ENST00000398971.3_Intron|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000356340.3_Nonsense_Mutation_p.E552*|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398964.3_Nonsense_Mutation_p.E523*|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000357811.3_Nonsense_Mutation_p.E530*|COL13A1_ENST00000522165.1_Nonsense_Mutation_p.E533*|COL13A1_ENST00000398966.3_Nonsense_Mutation_p.E530*|COL13A1_ENST00000398974.3_Nonsense_Mutation_p.E540*|COL13A1_ENST00000398972.3_Nonsense_Mutation_p.E552*|COL13A1_ENST00000398968.3_Nonsense_Mutation_p.E533*|COL13A1_ENST00000354547.3_Nonsense_Mutation_p.E530*|COL13A1_ENST00000398973.3_Nonsense_Mutation_p.E552*	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GCCCACAGGGAGAGAAAGGAGA	0.53																																																0																																										SO:0001587	stop_gained	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	Exception_encountered	10.37:g.71692318_71692319delinsTT	ENSP00000381949:p.Glu552*			Silent|Nonsense_Mutation	SNP	ENST00000398978.3	37	CCDS44419.1																																																																																				0.53	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		TT	71692319	AG	TT	71692318	4	4	486	1	0	0	0	0	0	1	0	0	3672	291	11	5	1771	5	COL13A1	10	71692318	Nonsense_Mutation	DNP	AG	TCGA-CJ-4634-01A-02D-1386-10	54540646	71692318	63842429	51	26279											
KRTAP5-3	387266	hgsc.bcm.edu	37	11	1629359	1629359	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr11:1629359delC	ENST00000399685.1	-	1	334	c.257delG	c.(256-258)ggcfs	p.G86fs		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	86	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGAGCCACAGCCCCCCTTGGA	0.677																																																0													39	59	52					11																	1629359		2179	4285	6464	SO:0001589	frameshift_variant	387266			AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.257delG	11.37:g.1629359delC	ENSP00000382592:p.Gly86fs		Q6PL44|Q701N3	Frame_Shift_Del	DEL	ENST00000399685.1	37	CCDS41591.1																																																																																				0.677	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			-	1629359	C	-	1629359	7	5	486	1	0	1	0	1	0	0	0	0	8564	739	26	0	463	0	KRTAP5-3	11	1629359	Frame_Shift_Del	DEL	C	TCGA-CJ-4634-01A-02D-1386-10		1629359	133377157	52	26280											
CD6	923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60785278	60785278	+	Missense_Mutation	SNP	C	C	A	rs376601820		TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr11:60785278C>A	ENST00000313421.7	+	11	1816	c.1630C>A	c.(1630-1632)Cac>Aac	p.H544N	CD6_ENST00000346437.4_Missense_Mutation_p.H471N|CD6_ENST00000344028.5_Missense_Mutation_p.H512N|CD6_ENST00000352009.5_Missense_Mutation_p.H512N|CD6_ENST00000452451.2_Missense_Mutation_p.H503N	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	544					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAACCCTGGACACTGCATTAC	0.552																																					Pancreas(169;904 2017 4767 38890 42505)											0													83	86	85					11																	60785278		2203	4299	6502	SO:0001583	missense	923				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1630C>A	11.37:g.60785278C>A	ENSP00000323280:p.His544Asn		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	1.489	-0.555098	0.03967	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000433107;ENST00000452451;ENST00000352009	T;T;T;T;T;T	0.01369	5.02;4.97;5.04;5.11;4.98;5.0	4.87	4.87	0.63330	.	1.286490	0.05769	N	0.606380	T	0.02610	0.0079	L	0.54323	1.7	0.09310	N	1	P;B;B;B	0.37276	0.589;0.001;0.204;0.255	B;B;B;B	0.32677	0.15;0.001;0.062;0.045	T	0.50923	-0.8770	10	0.33141	T	0.24	.	13.8848	0.63702	0.0:1.0:0.0:0.0	.	503;512;544;544	P30203-5;P30203-4;P30203;Q8N4Q7	.;.;CD6_HUMAN;.	N	512;471;544;411;503;512	ENSP00000344108:H512N;ENSP00000345566:H471N;ENSP00000323280:H544N;ENSP00000410638:H411N;ENSP00000390676:H503N;ENSP00000340628:H512N	ENSP00000323280:H544N	H	+	1	0	CD6	60541854	0.000000	0.05858	0.019000	0.16419	0.020000	0.10135	0.805000	0.27112	2.432000	0.82394	0.467000	0.42956	CAC		0.552	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		A	60785278	C	A	60785278	3	1	486	1	0	0	0	0	1	0	0	0	3030	478	17	4	1672	4	CD6	11	60785278	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	59155919	60785278	74221238	53	26281											
PZP	5858	hgsc.bcm.edu;ucsc.edu	37	12	9305470	9305471	+	Frame_Shift_Ins	INS	-	-	GTTT			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr12:9305470_9305471insGTTT	ENST00000261336.2	-	31	4098_4099	c.4070_4071insAAAC	c.(4069-4071)actfs	p.-1357fs	PZP_ENST00000381997.2_Frame_Shift_Ins_p.-1143fs	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein						female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTCCATCGCAAGTTTGGGGCAC	0.441																																					Melanoma(125;1402 1695 4685 34487 38571)											0																																										SO:0001589	frameshift_variant	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4067_4070dupAAAC	12.37:g.9305471_9305474dupGTTT	ENSP00000261336:p.Thr1357fs		A6ND27|Q15273|Q2NKL2|Q7M4N7	Frame_Shift_Ins	INS	ENST00000261336.2	37	CCDS8600.1																																																																																				0.441	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		GTTT	9305471	-	GTTT	9305470	7	5	486	1	0	1	1	0	0	0	0	0	12875	59	3	0	401	0	PZP	12	9305470	Frame_Shift_Ins	INS	-	TCGA-CJ-4634-01A-02D-1386-10		9305470	124546425	54	26282											
DDX11	1663	broad.mit.edu	37	12	31256928	31256928	+	Silent	SNP	C	C	G	rs536300063		TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr12:31256928C>G	ENST00000407793.2	+	27	3125	c.2874C>G	c.(2872-2874)ggC>ggG	p.G958G	DDX11_ENST00000545668.1_Silent_p.G958G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000350437.4_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	958					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAGGCACAGGCGTTAGCTCCC	0.582										Multiple Myeloma(12;0.14)																																						0													22	35	30					12																	31256928		1279	2263	3542	SO:0001819	synonymous_variant	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2874C>G	12.37:g.31256928C>G			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1																																																																																				0.582	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		G	31256928	C	G	31256928	2	3	486	1	0	0	0	0	0	0	0	1	4345	755	27	4		4	DDX11	12	31256928	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	21951458	31256928	102594967	55	26283											
KRT85	3891	broad.mit.edu;hgsc.bcm.edu	37	12	52760791	52760791	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr12:52760791C>G	ENST00000257901.3	-	1	474	c.399G>C	c.(397-399)agG>agC	p.R133S	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	133	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGCCGCGAACCTGCTGTTGA	0.617																																																0													175	162	166					12																	52760791		2203	4300	6503	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.399G>C	12.37:g.52760791C>G	ENSP00000257901:p.Arg133Ser		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159475	0.38119	.	.	ENSG00000135443	ENST00000257901	D	0.94000	-3.33	4.61	3.72	0.42706	Filament (1);	0.447708	0.20939	N	0.082943	D	0.96018	0.8703	M	0.91038	3.17	0.80722	D	1	B	0.30482	0.281	P	0.47705	0.555	D	0.95847	0.8871	10	0.87932	D	0	.	8.0036	0.30313	0.0:0.7645:0.0:0.2355	.	133	P78386	KRT85_HUMAN	S	133	ENSP00000257901:R133S	ENSP00000257901:R133S	R	-	3	2	KRT85	51047058	1.000000	0.71417	0.998000	0.56505	0.324000	0.28378	1.600000	0.36762	1.303000	0.44873	-0.379000	0.06801	AGG		0.617	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		G	52760791	C	G	52760791	3	3	486	1	0	0	0	0	1	0	0	0	8501	506	18	4	1160	4	KRT85	12	52760791	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	21503863	52760791	81091104	56	26284											
AMHR2	269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53818668	53818668	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr12:53818668delT	ENST00000257863.4	+	3	488	c.408delT	c.(406-408)ggtfs	p.G136fs	AMHR2_ENST00000550311.1_Frame_Shift_Del_p.G136fs|AMHR2_ENST00000379791.3_Frame_Shift_Del_p.G136fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	136					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCTCCCAGGGTCCCCAGGCTG	0.627																																																0													59	65	63					12																	53818668		2203	4300	6503	SO:0001589	frameshift_variant	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.408delT	12.37:g.53818668delT	ENSP00000257863:p.Gly136fs		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Frame_Shift_Del	DEL	ENST00000257863.4	37	CCDS8858.1																																																																																				0.627	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		-	53818668	T	-	53818668	7	5	486	1	0	1	0	1	0	0	0	0	573	1654	58	0	418	0	AMHR2	12	53818668	Frame_Shift_Del	DEL	T	TCGA-CJ-4634-01A-02D-1386-10	1057877	53818668	80033227	57	26285											
CMKLR1	1240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	108686307	108686307	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr12:108686307C>T	ENST00000312143.7	-	3	796	c.433G>A	c.(433-435)Gtc>Atc	p.V145I	CMKLR1_ENST00000550402.1_Missense_Mutation_p.V145I|CMKLR1_ENST00000397688.2_Missense_Mutation_p.V143I|CMKLR1_ENST00000552995.1_Missense_Mutation_p.V143I|CMKLR1_ENST00000412676.1_Missense_Mutation_p.V145I	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	145					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TGGGACCAGACAGGGAGGAGC	0.557																																																0													76	79	78					12																	108686307		2157	4264	6421	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.433G>A	12.37:g.108686307C>T	ENSP00000311733:p.Val145Ile		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.037956	0.75617	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.134805	0.49916	D	0.000121	T	0.49270	0.1547	L	0.41356	1.27	0.58432	D	0.999993	D	0.71674	0.998	D	0.67382	0.951	T	0.26985	-1.0087	10	0.20519	T	0.43	.	17.788	0.88543	0.0:1.0:0.0:0.0	.	145	Q99788	CML1_HUMAN	I	145;145;143;143;145;145	ENSP00000311733:V145I;ENSP00000401293:V145I;ENSP00000380803:V143I;ENSP00000447579:V143I;ENSP00000449716:V145I;ENSP00000448925:V145I	ENSP00000311733:V145I	V	-	1	0	CMKLR1	107210437	1.000000	0.71417	0.998000	0.56505	0.565000	0.35776	6.055000	0.71103	2.448000	0.82819	0.486000	0.48141	GTC		0.557	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			T	108686307	C	T	108686307	3	4	486	1	0	0	0	0	1	0	0	0	3581	478	17	2	692	2	CMKLR1	12	108686307	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	54867639	108686307	25165588	58	26286											
ACADS	35	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	rs199633532		TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_ENST00000411593.2_Missense_Mutation_p.R326H|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CTGACCTGGCGCGCTGCCATG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17348	0.0		0.001	False		,,,				2504	0.0															2	Substitution - Missense(2)	prostate(1)|kidney(1)	GRCh37	CM067634	ACADS	M							46	52	50					12																	121176678		2203	4300	6503	SO:0001583	missense	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.989G>A	12.37:g.121176678G>A	ENSP00000242592:p.Arg330His		P78331	Missense_Mutation	SNP	ENST00000242592.4	37	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357217	0.82243	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.96619	-4.07;-4.07	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.053187	0.64402	D	0.000001	D	0.96694	0.8921	L	0.33792	1.035	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.737;0.737	D;B;B	0.80764	0.994;0.14;0.14	D	0.97682	1.0173	10	0.62326	D	0.03	.	17.5068	0.87748	0.0:0.0:1.0:0.0	.	326;330;330	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	H	330;326	ENSP00000242592:R330H;ENSP00000401045:R326H	ENSP00000242592:R330H	R	+	2	0	ACADS	119661061	1.000000	0.71417	0.916000	0.36221	0.916000	0.54674	7.185000	0.77714	2.125000	0.65367	0.561000	0.74099	CGC		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		A	121176678	G	A	121176678	3	1	486	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	12490371	121176678	12675217	59	26287											
BCL7A	605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122481799	122481799	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr12:122481799delC	ENST00000261822.4	+	4	485	c.279delC	c.(277-279)aacfs	p.N93fs	BCL7A_ENST00000538010.1_Frame_Shift_Del_p.N93fs	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	93					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CAGACGATAACAGCAACCAGA	0.602			T	MYC	BNHL																																GBM(17;197 467 16477 23242 44349)		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	0													207	182	190					12																	122481799		2203	4300	6503	SO:0001589	frameshift_variant	605			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.279delC	12.37:g.122481799delC	ENSP00000261822:p.Asn93fs		B4DJN6|B7ZB21|Q13843|Q14CT7	Frame_Shift_Del	DEL	ENST00000261822.4	37	CCDS53841.1																																																																																				0.602	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			-	122481799	C	-	122481799	7	5	486	1	0	1	0	1	0	0	0	0	1378	477	17	0	293	0	BCL7A	12	122481799	Frame_Shift_Del	DEL	C	TCGA-CJ-4634-01A-02D-1386-10	1305121	122481799	11370096	60	26288											
DCLK1	9201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	36521538	36521538	+	Silent	SNP	C	C	T	rs146364649	byFrequency	TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr13:36521538C>T	ENST00000360631.3	-	4	991	c.780G>A	c.(778-780)ccG>ccA	p.P260P	DCLK1_ENST00000255448.4_Silent_p.P260P|DCLK1_ENST00000379892.4_Silent_p.P260P			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	260	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGAACTTCTCCGGTCCACATG	0.423													C|||	3	0.000599042	0.0	0.0	5008	,	,		17983	0.0		0.003	False		,,,				2504	0.0															0								C		0,4406		0,0,2203	112	101	104		780	0.2	1	13	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DCLK1	NM_004734.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		260/730	36521538	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.780G>A	13.37:g.36521538C>T			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37																																																																																					0.423	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		T	36521538	C	T	36521538	2	4	486	1	0	0	0	0	0	0	0	1	4293	639	23	1		1	DCLK1	13	36521538	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10		36521538	78648340	61	26289											
DGKH	160851	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42740809	42740809	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr13:42740809G>A	ENST00000337343.4	+	9	1138	c.1117G>A	c.(1117-1119)Ggt>Agt	p.G373S	DGKH_ENST00000540693.1_Splice_Site_p.G373S|DGKH_ENST00000261491.5_Splice_Site_p.G373S|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Splice_Site_p.G128S|DGKH_ENST00000536612.1_Splice_Site_p.G237S|DGKH_ENST00000379274.2_Splice_Site_p.G237S	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	373	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TCCTCATTTAGGGTAACTGAT	0.358																																																0													73	75	74					13																	42740809		2203	4300	6503	SO:0001630	splice_region_variant	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1118+1G>A	13.37:g.42740809G>A			A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	35	5.586168	0.96578	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06	5.81	5.81	0.92471	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.52223	-0.8604	10	0.87932	D	0	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	128;237;373;373	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	S	373;373;373;237;237;128	ENSP00000440823:G373S;ENSP00000337572:G373S;ENSP00000261491:G373S;ENSP00000368576:G237S;ENSP00000445114:G237S;ENSP00000441308:G128S	ENSP00000261491:G373S	G	+	1	0	DGKH	41638809	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.813000	0.99286	2.747000	0.94245	0.650000	0.86243	GGT		0.358	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	Missense_Mutation	A	42740809	G	A	42740809	5	1	486	1	0	0	0	0	0	0	1	0	4472	1014	35	2	1151	2	DGKH	13	42740809	Splice_Site	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	6219271	42740809	72429069	62	26290											
MED4	29079	broad.mit.edu;hgsc.bcm.edu	37	13	48669206	48669206	+	Silent	SNP	C	C	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr13:48669206C>G	ENST00000258648.2	-	1	34	c.9G>C	c.(7-9)gcG>gcC	p.A3A	MED4_ENST00000378586.1_5'UTR	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	3					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CACTCGAAGACGCAGCCATTT	0.662											OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(38;399 1016 9170 13426 20145)											0													47	42	44					13																	48669206		2203	4300	6503	SO:0001819	synonymous_variant	29079			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"vitamin D receptor interacting protein", "mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.9G>C	13.37:g.48669206C>G		956	B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Silent	SNP	ENST00000258648.2	37	CCDS9408.1																																																																																				0.662	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		G	48669206	C	G	48669206	2	3	486	1	0	0	0	0	0	0	0	1	9452	523	19	4		4	MED4	13	48669206	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	5928397	48669206	66500672	63	26291											
SIX4	51804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	61190108	61190108	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr14:61190108A>T	ENST00000216513.4	-	1	744	c.685T>A	c.(685-687)Tgt>Agt	p.C229S		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	229					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TCCTTGAAACAATACACCGTC	0.652																																																0													35	34	34					14																	61190108		2203	4299	6502	SO:0001583	missense	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.685T>A	14.37:g.61190108A>T	ENSP00000216513:p.Cys229Ser		Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	A	16.44	3.122936	0.56613	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.91351	-2.83	3.63	3.63	0.41609	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.051197	0.85682	D	0.000000	D	0.91222	0.7234	L	0.28740	0.885	0.80722	D	1	D;B	0.89917	1.0;0.176	D;B	0.77557	0.99;0.359	D	0.91469	0.5195	10	0.59425	D	0.04	.	12.0754	0.53641	1.0:0.0:0.0:0.0	.	221;229	G3V2N2;Q9UIU6	.;SIX4_HUMAN	S	229;221	ENSP00000216513:C229S	ENSP00000216513:C229S	C	-	1	0	SIX4	60259861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.824000	0.92023	1.508000	0.48769	0.528000	0.53228	TGT		0.652	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			T	61190108	A	T	61190108	3	4	486	1	0	0	0	0	1	0	0	0	14355	130	5	5	1672	5	SIX4	14	61190108	Missense_Mutation	SNP	A	TCGA-CJ-4634-01A-02D-1386-10		61190108	46159432	64	26292											
HIF1A	3091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	62200986	62200986	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr14:62200986T>A	ENST00000337138.4	+	8	1276	c.1011T>A	c.(1009-1011)tgT>tgA	p.C337*	HIF1A_ENST00000557538.1_Nonsense_Mutation_p.C278*|HIF1A_ENST00000323441.6_Nonsense_Mutation_p.C337*|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Nonsense_Mutation_p.C338*|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Nonsense_Mutation_p.C361*	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	337	Interaction with TSGA10. {ECO:0000250}.|PAC.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GCATTGTATGTGTGAATTACG	0.353																																																0													107	95	99					14																	62200986		2203	4300	6503	SO:0001587	stop_gained	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1011T>A	14.37:g.62200986T>A	ENSP00000338018:p.Cys337*		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Nonsense_Mutation	SNP	ENST00000337138.4	37	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	T	41	8.640802	0.98897	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	.	.	.	5.44	4.29	0.51040	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.445	0.50118	0.0:0.071:0.0:0.929	.	.	.	.	X	88;278;337;338;337;278;361	.	ENSP00000323326:C337X	C	+	3	2	HIF1A	61270739	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.486000	0.35530	1.001000	0.39076	0.455000	0.32223	TGT		0.353	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		A	62200986	T	A	62200986	4	1	486	1	0	0	0	0	0	1	0	0	7105	1702	59	5	1041	5	HIF1A	14	62200986	Nonsense_Mutation	SNP	T	TCGA-CJ-4634-01A-02D-1386-10	1010878	62200986	45148554	65	26293											
DCAF5	8816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	69520975	69520975	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr14:69520975C>T	ENST00000341516.5	-	9	2575	c.2428G>A	c.(2428-2430)Ggc>Agc	p.G810S	DCAF5_ENST00000556847.1_Missense_Mutation_p.G728S|DCAF5_ENST00000554215.1_Missense_Mutation_p.G728S|DCAF5_ENST00000557386.1_Missense_Mutation_p.G809S|DCAF5_ENST00000553293.1_5'Flank	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	810					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGACAGTTGCCAGACCCGCTG	0.587																																																0													80	83	82					14																	69520975		2203	4300	6503	SO:0001583	missense	8816			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2428G>A	14.37:g.69520975C>T	ENSP00000341351:p.Gly810Ser		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210829	0.39102	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.70164	-0.46;-0.29;-0.29;0.1	5.09	4.12	0.48240	.	0.071573	0.53938	D	0.000042	T	0.50051	0.1593	N	0.14661	0.345	0.80722	D	1	B;B	0.14805	0.011;0.006	B;B	0.18263	0.021;0.009	T	0.50056	-0.8872	10	0.49607	T	0.09	-21.4734	14.1372	0.65295	0.0:0.9167:0.0:0.0833	.	809;810	G3V4J7;Q96JK2	.;DCAF5_HUMAN	S	810;728;728;809	ENSP00000341351:G810S;ENSP00000451551:G728S;ENSP00000452052:G728S;ENSP00000451845:G809S	ENSP00000341351:G810S	G	-	1	0	DCAF5	68590728	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.596000	0.54024	2.648000	0.89879	0.561000	0.74099	GGC		0.587	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		T	69520975	C	T	69520975	3	4	486	1	0	0	0	0	1	0	0	0	4275	594	21	2	404	2	DCAF5	14	69520975	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	7319989	69520975	37828565	66	26294											
DYNC1H1	1778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	102510612	102510612	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr14:102510612G>A	ENST00000360184.4	+	71	12850	c.12686G>A	c.(12685-12687)gGc>gAc	p.G4229D	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4229					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCCCCCAGGGCAGGCAGAAC	0.602																																																0													52	41	44					14																	102510612		2203	4300	6503	SO:0001630	splice_region_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12685-1G>A	14.37:g.102510612G>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319501	0.95682	.	.	ENSG00000197102	ENST00000360184	T	0.31510	1.49	5.56	5.56	0.83823	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	M	0.92604	3.325	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.72276	-0.4341	10	0.46703	T	0.11	.	19.5375	0.95260	0.0:0.0:1.0:0.0	.	4229	Q14204	DYHC1_HUMAN	D	4229	ENSP00000348965:G4229D	ENSP00000348965:G4229D	G	+	2	0	DYNC1H1	101580365	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.869000	0.99810	2.620000	0.88729	0.655000	0.94253	GGC		0.602	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Missense_Mutation	A	102510612	G	A	102510612	5	1	486	1	0	0	0	0	0	0	1	0	4843	1217	42	2	12968	2	DYNC1H1	14	102510612	Splice_Site	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	32989637	102510612	4838928	67	26295											
TDRD9	122402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	104441754	104441754	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr14:104441754G>C	ENST00000409874.4	+	7	923	c.875G>C	c.(874-876)tGt>tCt	p.C292S	TDRD9_ENST00000339063.5_Missense_Mutation_p.C292S	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	292	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ACCATCAGCTGTAAAGAGTTT	0.373																																																0													141	128	132					14																	104441754		2203	4300	6503	SO:0001583	missense	122402			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.875G>C	14.37:g.104441754G>C	ENSP00000387303:p.Cys292Ser		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344234	0.41498	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.26067	1.76;1.76	5.49	4.59	0.56863	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.080663	0.52532	D	0.000073	T	0.08358	0.0208	N	0.01048	-1.04	0.80722	D	1	P;B	0.34615	0.459;0.027	B;B	0.34824	0.19;0.089	T	0.33445	-0.9868	10	0.17369	T	0.5	.	10.7911	0.46434	0.0722:0.1324:0.7954:0.0	.	292;292	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	S	292	ENSP00000387303:C292S;ENSP00000343545:C292S	ENSP00000343545:C292S	C	+	2	0	TDRD9	103511507	1.000000	0.71417	0.934000	0.37439	0.963000	0.63663	6.633000	0.74286	2.580000	0.87095	0.650000	0.86243	TGT		0.373	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		C	104441754	G	C	104441754	3	2	486	1	0	0	0	0	1	0	0	0	15741	1377	48	4	901	4	TDRD9	14	104441754	Missense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	1931142	104441754	2907786	68	26296											
LPCAT4	254531	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	34651395	34651395	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr15:34651395G>A	ENST00000314891.6	-	14	1685	c.1508C>T	c.(1507-1509)tCa>tTa	p.S503L		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	503					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GCCTGGGGATGAGGCATTTGG	0.607																																																0													92	84	87					15																	34651395		2201	4298	6499	SO:0001583	missense	254531			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1508C>T	15.37:g.34651395G>A	ENSP00000317300:p.Ser503Leu		A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	ENST00000314891.6	37	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426006	0.43020	.	.	ENSG00000176454	ENST00000314891	T	0.80480	-1.38	5.66	2.76	0.32466	.	1.000160	0.08070	N	0.999669	T	0.70996	0.3288	L	0.36672	1.1	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.53578	-0.8419	10	0.17369	T	0.5	-0.081	9.0023	0.36090	0.2393:0.0:0.7607:0.0	.	503	Q643R3	LPCT4_HUMAN	L	503	ENSP00000317300:S503L	ENSP00000317300:S503L	S	-	2	0	LPCAT4	32438687	0.719000	0.27986	0.436000	0.26797	0.965000	0.64279	1.432000	0.34936	0.759000	0.33084	0.491000	0.48974	TCA		0.607	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		A	34651395	G	A	34651395	3	1	486	1	0	0	0	0	1	0	0	0	8915	1294	45	2	70	2	LPCAT4	15	34651395	Missense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10		34651395	67879997	69	26297											
VPS18	57617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41188258	41188258	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr15:41188258G>C	ENST00000220509.5	+	2	553	c.214G>C	c.(214-216)Ggc>Cgc	p.G72R	VPS18_ENST00000558474.1_Missense_Mutation_p.G72R	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	72					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CATGAGCCTGGGCAAGGATAC	0.517																																																0													167	148	154					15																	41188258		2203	4300	6503	SO:0001583	missense	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.214G>C	15.37:g.41188258G>C	ENSP00000220509:p.Gly72Arg		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918915	0.92249	.	.	ENSG00000104142	ENST00000220509	T	0.40756	1.02	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	L	0.49350	1.555	0.80722	D	1	B	0.28998	0.23	B	0.20955	0.032	T	0.20571	-1.0271	10	0.10636	T	0.68	-34.954	18.4309	0.90624	0.0:0.0:1.0:0.0	.	72	Q9P253	VPS18_HUMAN	R	72	ENSP00000220509:G72R	ENSP00000220509:G72R	G	+	1	0	VPS18	38975550	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.360000	0.97119	2.584000	0.87258	0.557000	0.71058	GGC		0.517	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			C	41188258	G	C	41188258	3	2	486	1	0	0	0	0	1	0	0	0	17199	1232	43	4	220	4	VPS18	15	41188258	Missense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	6536863	41188258	61343134	70	26298											
PRKCB	5579	broad.mit.edu;ucsc.edu	37	16	24185869	24185869	+	Silent	SNP	G	G	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr16:24185869G>C	ENST00000321728.7	+	12	1537	c.1362G>C	c.(1360-1362)ctG>ctC	p.L454L	PRKCB_ENST00000303531.7_Silent_p.L454L	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CCATCGGTCTGTTCTTCTTAC	0.428																																																0													109	103	105					16																	24185869		2197	4300	6497	SO:0001819	synonymous_variant	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1362G>C	16.37:g.24185869G>C			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	CCDS10618.1																																																																																				0.428	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		C	24185869	G	C	24185869	2	2	486	1	0	0	0	0	0	0	0	1	12513	1364	48	4		4	PRKCB	16	24185869	Silent	SNP	G	TCGA-CJ-4634-01A-02D-1386-10		24185869	66168884	71	26299											
TNRC6A	27327	hgsc.bcm.edu	37	16	24805924	24805925	+	In_Frame_Ins	INS	-	-	CCA			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr16:24805924_24805925insCCA	ENST00000395799.3	+	8	3541_3542	c.3412_3413insCCA	c.(3412-3414)ccc>cCCAcc	p.1139_1140insT	TNRC6A_ENST00000315183.7_In_Frame_Ins_p.1139_1140insT	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1139	Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGAAATCGCCCCACTGGCTGG	0.411																																																0																																										SO:0001652	inframe_insertion	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3413_3415dupCCA	16.37:g.24805925_24805927dupCCA	ENSP00000379144:p.Thr1139_Thr1139dup		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	In_Frame_Ins	INS	ENST00000395799.3	37	CCDS10624.2																																																																																				0.411	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		CCA	24805925	-	CCA	24805924	7	5	486	1	0	1	1	0	0	0	0	0	16345	623	22	0	3442	0	TNRC6A	16	24805924	In_Frame_Ins	INS	-	TCGA-CJ-4634-01A-02D-1386-10	620055	24805924	65548829	72	26300											
KCTD19	146212	broad.mit.edu;ucsc.edu	37	16	67324887	67324887	+	Silent	SNP	G	G	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr16:67324887G>C	ENST00000304372.5	-	15	2623	c.2568C>G	c.(2566-2568)acC>acG	p.T856T		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	856					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TGATGTGCAGGGTCTGCCAGG	0.617																																																0													44	48	46					16																	67324887		2036	4198	6234	SO:0001819	synonymous_variant	146212			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2568C>G	16.37:g.67324887G>C			B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	CCDS42179.1																																																																																				0.617	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		C	67324887	G	C	67324887	2	2	486	1	0	0	0	0	0	0	0	1	8108	1219	43	4		4	KCTD19	16	67324887	Silent	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	42518963	67324887	23029866	73	26301											
CCDC42	146849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8647475	8647475	+	Silent	SNP	C	C	T	rs149123321		TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr17:8647475C>T	ENST00000293845.3	-	2	337	c.111G>A	c.(109-111)tcG>tcA	p.S37S	CCDC42_ENST00000539522.2_Silent_p.S37S	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	37										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						ATGGGGACTCCGACGCCCCCT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18373	0.001		0.0	False		,,,				2504	0.0															0								C	,	2,4404	4.2+/-10.8	0,2,2201	127	107	114		111,111	-5.9	0	17	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CCDC42	NM_001158261.1,NM_144681.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	37/243,37/317	8647475	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	146849			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.111G>A	17.37:g.8647475C>T			Q8N6Q0	Silent	SNP	ENST00000293845.3	37	CCDS11145.1																																																																																				0.547	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		T	8647475	C	T	8647475	2	4	486	1	0	0	0	0	0	0	0	1	2816	639	23	1		1	CCDC42	17	8647475	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10		8647475	72547735	74	26302											
GGNBP2	79893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34943427	34943427	+	Splice_Site	SNP	A	A	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr17:34943427A>C	ENST00000304718.4	+	13	1958	c.1642A>C	c.(1642-1644)Atc>Ctc	p.I548L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	548					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTGGTATCAGATCCAGAAGCT	0.403																																																0													47	48	48					17																	34943427		2203	4300	6503	SO:0001630	splice_region_variant	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1642-1A>C	17.37:g.34943427A>C			B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.081359	0.55753	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.93	5.93	0.95920	.	0.114581	0.64402	D	0.000018	T	0.39759	0.1090	N	0.14661	0.345	0.80722	D	1	B	0.25312	0.123	B	0.18871	0.023	T	0.28618	-1.0038	8	.	.	.	-8.8045	14.954	0.71098	1.0:0.0:0.0:0.0	.	548	Q9H3C7	GGNB2_HUMAN	L	548	.	.	I	+	1	0	GGNBP2	32017540	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.030000	0.70903	2.271000	0.75665	0.459000	0.35465	ATC		0.403	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	Missense_Mutation	C	34943427	A	C	34943427	5	2	486	1	0	0	0	0	0	0	1	0	6361	347	12	5	1688	5	GGNBP2	17	34943427	Splice_Site	SNP	A	TCGA-CJ-4634-01A-02D-1386-10	26295952	34943427	46251783	75	26303											
PLEKHM1	9842	broad.mit.edu;hgsc.bcm.edu	37	17	43552739	43552739	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr17:43552739T>C	ENST00000430334.3	-	4	783	c.650A>G	c.(649-651)aAg>aGg	p.K217R	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.K128R	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	217					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CAGAGATTCCTTCCGCTGTAG	0.532																																																0													24	23	23					17																	43552739		2202	4286	6488	SO:0001583	missense	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.650A>G	17.37:g.43552739T>C	ENSP00000389913:p.Lys217Arg		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.816711	0.32145	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.68903	-0.35;-0.36	5.03	5.03	0.67393	.	0.111367	0.64402	D	0.000014	T	0.47764	0.1463	N	0.17082	0.46	0.37316	D	0.90933	B;P	0.44241	0.372;0.829	B;B	0.40901	0.133;0.343	T	0.53704	-0.8401	10	0.32370	T	0.25	.	8.3979	0.32568	0.0:0.0876:0.0:0.9124	.	128;217	F8W648;Q9Y4G2	.;PKHM1_HUMAN	R	217;166;128	ENSP00000389913:K217R;ENSP00000414352:K128R	ENSP00000414352:K128R	K	-	2	0	PLEKHM1	40908522	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.859000	0.55987	2.108000	0.64289	0.533000	0.62120	AAG		0.532	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		C	43552739	T	C	43552739	3	2	486	1	0	0	0	0	1	0	0	0	12082	1609	56	3	2556	3	PLEKHM1	17	43552739	Missense_Mutation	SNP	T	TCGA-CJ-4634-01A-02D-1386-10	8609312	43552739	37642471	76	26304											
ABCA8	10351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	66924117	66924117	+	Silent	SNP	A	A	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr17:66924117A>G	ENST00000269080.2	-	9	1350	c.1213T>C	c.(1213-1215)Ttg>Ctg	p.L405L	ABCA8_ENST00000586539.1_Silent_p.L405L|ABCA8_ENST00000430352.2_Silent_p.L405L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	405					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCAAATGCCAACATGAAATTT	0.318																																																0													67	66	67					17																	66924117		2203	4300	6503	SO:0001819	synonymous_variant	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1213T>C	17.37:g.66924117A>G			A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	CCDS11680.1																																																																																				0.318	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		G	66924117	A	G	66924117	2	3	486	1	0	0	0	0	0	0	0	1	38	40	2	3		3	ABCA8	17	66924117	Silent	SNP	A	TCGA-CJ-4634-01A-02D-1386-10	23371378	66924117	14271093	77	26305											
L3MBTL4	91133	broad.mit.edu;hgsc.bcm.edu	37	18	6215828	6215828	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr18:6215828G>C	ENST00000284898.6	-	11	991	c.791C>G	c.(790-792)cCc>cGc	p.P264R	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P264R|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P264R|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.P264R|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.P77R	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	264					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCTGGATTGGGATAACCTGA	0.333																																					Esophageal Squamous(41;748 902 17366 28959 43175)											0													31	33	33					18																	6215828		2201	4300	6501	SO:0001583	missense	91133			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.791C>G	18.37:g.6215828G>C	ENSP00000284898:p.Pro264Arg		A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753413	0.49362	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.3	4.42	0.53409	.	0.167484	0.39020	N	0.001491	T	0.20414	0.0491	L	0.39566	1.225	0.39401	D	0.966595	B;B	0.33755	0.424;0.22	B;B	0.32149	0.141;0.106	T	0.06499	-1.0823	10	0.45353	T	0.12	.	10.0282	0.42085	0.094:0.0:0.906:0.0	.	264;264	Q8NA19;F8W9S8	LMBL4_HUMAN;.	R	264;264;264;77;264	ENSP00000382976:P264R;ENSP00000318543:P264R;ENSP00000284898:P264R;ENSP00000444774:P77R;ENSP00000382975:P264R	ENSP00000284898:P264R	P	-	2	0	L3MBTL4	6205828	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	2.814000	0.48010	1.372000	0.46190	0.655000	0.94253	CCC		0.333	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		C	6215828	G	C	6215828	3	2	486	1	0	0	0	0	1	0	0	0	8596	1232	43	4	1120	4	L3MBTL4	18	6215828	Missense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10		6215828	71861420	78	26306											
ZNF521	25925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	22806642	22806642	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr18:22806642A>C	ENST00000361524.3	-	4	1388	c.1240T>G	c.(1240-1242)Tta>Gta	p.L414V	ZNF521_ENST00000584787.1_Missense_Mutation_p.L194V|ZNF521_ENST00000538137.2_Missense_Mutation_p.L414V|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	414					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTTGAAAATAATTGTTTGTTG	0.453			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													91	90	90					18																	22806642		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1240T>G	18.37:g.22806642A>C	ENSP00000354794:p.Leu414Val		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	5.455	0.269016	0.10349	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08282	3.11;3.18	6.16	-3.3	0.05003	Zinc finger, C2H2-like (1);	0.074355	0.49916	D	0.000138	T	0.03220	0.0094	N	0.08118	0	0.24387	N	0.994763	B	0.09022	0.002	B	0.10450	0.005	T	0.41998	-0.9477	10	0.20046	T	0.44	-12.8534	9.1553	0.36990	0.4318:0.1144:0.4538:0.0	.	414	Q96K83	ZN521_HUMAN	V	414;448;414	ENSP00000354794:L414V;ENSP00000382352:L414V	ENSP00000354794:L414V	L	-	1	2	ZNF521	21060640	0.978000	0.34361	0.216000	0.23742	0.909000	0.53808	0.565000	0.23578	-0.549000	0.06191	-0.263000	0.10527	TTA		0.453	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		C	22806642	A	C	22806642	3	2	486	1	0	0	0	0	1	0	0	0	17970	98	4	5	2715	5	ZNF521	18	22806642	Missense_Mutation	SNP	A	TCGA-CJ-4634-01A-02D-1386-10	16590814	22806642	55270606	79	26307											
ZNF532	55205	broad.mit.edu	37	18	56601783	56601783	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr18:56601783C>T	ENST00000336078.4	+	5	3241	c.2465C>T	c.(2464-2466)tCg>tTg	p.S822L	ZNF532_ENST00000591230.1_Missense_Mutation_p.S822L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S822L|ZNF532_ENST00000591808.1_Missense_Mutation_p.S822L|ZNF532_ENST00000591083.1_Missense_Mutation_p.S822L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	822			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S822L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATCTGCAGGTCGGTGCACTTC	0.502																																																2	Substitution - Missense(2)	breast(2)											141	120	127					18																	56601783		2203	4300	6503	SO:0001583	missense	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2465C>T	18.37:g.56601783C>T	ENSP00000338217:p.Ser822Leu		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	C	33	5.268072	0.95429	.	.	ENSG00000074657	ENST00000336078	T	0.27890	1.64	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);	0.057576	0.64402	N	0.000001	T	0.53302	0.1788	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51896	-0.8647	10	0.59425	D	0.04	-5.4258	18.9741	0.92728	0.0:1.0:0.0:0.0	.	822	Q9HCE3	ZN532_HUMAN	L	822	ENSP00000338217:S822L	ENSP00000338217:S822L	S	+	2	0	ZNF532	54752763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.774000	0.62339	2.644000	0.89710	0.561000	0.74099	TCG		0.502	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		T	56601783	C	T	56601783	3	4	486	1	0	0	0	0	1	0	0	0	17977	893	31	1	2471	1	ZNF532	18	56601783	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	33795141	56601783	21475465	80	26308											
JSRP1	126306	broad.mit.edu;hgsc.bcm.edu	37	19	2252973	2252973	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr19:2252973C>A	ENST00000300961.6	-	6	530	c.466G>T	c.(466-468)Gca>Tca	p.A156S	MIR4321_ENST00000592276.1_RNA|JSRP1_ENST00000586471.2_Missense_Mutation_p.A156S	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	156	Pro-rich.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCACACGTGCTTGGAGTGCT	0.692																																																0													26	26	26					19																	2252973		2188	4297	6485	SO:0001583	missense	126306			AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.466G>T	19.37:g.2252973C>A	ENSP00000300961:p.Ala156Ser			Missense_Mutation	SNP	ENST00000300961.6	37	CCDS12086.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400689	0.42613	.	.	ENSG00000167476	ENST00000300961	T	0.49720	0.77	2.61	0.345	0.16011	.	0.666680	0.12376	N	0.474366	T	0.33235	0.0856	N	0.24115	0.695	0.09310	N	1	P	0.52061	0.95	P	0.46339	0.513	T	0.14504	-1.0470	10	0.44086	T	0.13	-3.6725	5.4045	0.16314	0.0:0.6595:0.209:0.1315	.	156	Q96MG2	JSPR1_HUMAN	S	156	ENSP00000300961:A156S	ENSP00000300961:A156S	A	-	1	0	JSRP1	2203973	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	0.856000	0.27818	0.168000	0.19655	-0.305000	0.09177	GCA		0.692	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616		A	2252973	C	A	2252973	3	1	486	1	0	0	0	0	1	0	0	0	7968	797	28	4	537	4	JSRP1	19	2252973	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10		2252973	56876010	81	26309											
CELF5	60680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3293438	3293438	+	Silent	SNP	C	C	A	rs142809979		TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr19:3293438C>A	ENST00000292672.2	+	12	1489	c.1452C>A	c.(1450-1452)ccC>ccA	p.P484P	CELF5_ENST00000541430.2_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	484					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CGGGACACCCCTACTGACCGC	0.687																																																0													61	57	59					19																	3293438		2203	4300	6503	SO:0001819	synonymous_variant	60680			AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1452C>A	19.37:g.3293438C>A			D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	CCDS12106.1																																																																																				0.687	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		A	3293438	C	A	3293438	2	1	486	1	0	0	0	0	0	0	0	1	3221	668	24	4		4	CELF5	19	3293438	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	1040465	3293438	55835545	82	26310											
HKR1	284459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37853658	37853658	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr19:37853658A>G	ENST00000324411.4	+	6	1230	c.961A>G	c.(961-963)Agg>Ggg	p.R321G	HKR1_ENST00000541583.2_Missense_Mutation_p.R260G|HKR1_ENST00000591471.1_Missense_Mutation_p.R48G|HKR1_ENST00000544914.1_Missense_Mutation_p.R48G|HKR1_ENST00000589392.1_Missense_Mutation_p.R303G|HKR1_ENST00000392153.3_Missense_Mutation_p.R302G|HKR1_ENST00000591134.1_Intron	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	321					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACACATCAGAGGACACACTC	0.507																																																0													105	101	102					19																	37853658		2203	4300	6503	SO:0001583	missense	284459			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.961A>G	19.37:g.37853658A>G	ENSP00000315505:p.Arg321Gly		A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756951	0.31137	.	.	ENSG00000181666	ENST00000544914;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	3.05	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38931	0.1059	M	0.72353	2.195	0.80722	D	1	P;P;D;P	0.67145	0.687;0.875;0.996;0.608	B;B;P;B	0.57776	0.226;0.341;0.827;0.138	T	0.22800	-1.0206	9	0.56958	D	0.05	-15.9411	6.4516	0.21906	0.8779:0.0:0.1221:0.0	.	260;302;321;303	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	G	48;302;357;321;260	ENSP00000437774:R48G;ENSP00000375994:R302G;ENSP00000315505:R321G;ENSP00000438261:R260G	ENSP00000315505:R321G	R	+	1	2	HKR1	42545498	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.328000	0.19681	1.397000	0.46682	0.529000	0.55759	AGG		0.507	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		G	37853658	A	G	37853658	3	3	486	1	0	0	0	0	1	0	0	0	7196	295	11	3	975	3	HKR1	19	37853658	Missense_Mutation	SNP	A	TCGA-CJ-4634-01A-02D-1386-10	34560220	37853658	21275325	83	26311											
MAMSTR	284358	broad.mit.edu	37	19	49216785	49216785	+	Silent	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr19:49216785C>T	ENST00000318083.6	-	10	1050	c.987G>A	c.(985-987)ctG>ctA	p.L329L	MAMSTR_ENST00000419611.1_Silent_p.L226L|MAMSTR_ENST00000377367.3_Silent_p.L161L|MAMSTR_ENST00000356751.4_Silent_p.L226L|MAMSTR_ENST00000594582.1_Silent_p.L161L			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	329	Pro-rich.|Transcription activation. {ECO:0000250}.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CAGGGAAGTCCAGGGGAATAG	0.602											OREG0025608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													15	18	17					19																	49216785		2188	4276	6464	SO:0001819	synonymous_variant	284358			AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"MEF2-activating SAP transcriptional regulator"	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.987G>A	19.37:g.49216785C>T		960	B7ZKX4|Q3KQU9|Q8N9Y3	Silent	SNP	ENST00000318083.6	37	CCDS46137.1																																																																																				0.602	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		T	49216785	C	T	49216785	2	4	486	1	0	0	0	0	0	0	0	1	9211	581	21	2		2	MAMSTR	19	49216785	Silent	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	11363127	49216785	9912198	84	26312											
FPR3	2359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52327023	52327023	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr19:52327023C>T	ENST00000339223.4	+	2	201	c.22C>T	c.(22-24)Cct>Tct	p.P8S	FPR3_ENST00000595991.1_Missense_Mutation_p.P8S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	8					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTTCTCCATTCCTCTGAATGA	0.473																																																0													95	78	84					19																	52327023		2203	4300	6503	SO:0001583	missense	2359				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.22C>T	19.37:g.52327023C>T	ENSP00000341821:p.Pro8Ser			Missense_Mutation	SNP	ENST00000339223.4	37	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	9.051	0.992124	0.18966	.	.	ENSG00000187474	ENST00000339223	T	0.37584	1.19	2.32	1.16	0.20824	.	0.546723	0.16036	N	0.232646	T	0.16085	0.0387	N	0.08118	0	0.09310	N	0.999998	P	0.42649	0.786	B	0.37943	0.261	T	0.09530	-1.0670	10	0.51188	T	0.08	.	6.4715	0.22011	0.2891:0.7109:0.0:0.0	.	8	P25089	FPR3_HUMAN	S	8	ENSP00000341821:P8S	ENSP00000341821:P8S	P	+	1	0	FPR3	57018835	0.000000	0.05858	0.115000	0.21578	0.617000	0.37484	-0.697000	0.05098	0.222000	0.20900	0.467000	0.42956	CCT		0.473	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		T	52327023	C	T	52327023	3	4	486	1	0	0	0	0	1	0	0	0	6042	855	30	2	24	2	FPR3	19	52327023	Missense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	3110238	52327023	6801960	85	26313											
ZNF274	10782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58695360	58695360	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr19:58695360T>A	ENST00000326804.4	+	2	487	c.28T>A	c.(28-30)Tcc>Acc	p.S10T	ZNF274_ENST00000345813.3_Missense_Mutation_p.S10T|ZNF274_ENST00000424679.2_Intron|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GACGGCCTGGTCCTGTGTGAG	0.572																																																0													62	65	64					19																	58695360		1998	4172	6170	SO:0001583	missense	10782			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.28T>A	19.37:g.58695360T>A	ENSP00000321209:p.Ser10Thr		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37		.	.	.	.	.	.	.	.	.	.	T	9.196	1.027290	0.19512	.	.	ENSG00000171606	ENST00000326804;ENST00000345813	T;T	0.00816	5.66;5.66	3.56	1.38	0.22167	Krueppel-associated box (1);	.	.	.	.	T	0.00580	0.0019	L	0.28344	0.845	0.25260	N	0.989601	B;P	0.37466	0.318;0.596	B;B	0.29785	0.107;0.067	T	0.30909	-0.9962	9	0.02654	T	1	-3.4608	5.0945	0.14725	0.0:0.2672:0.0:0.7328	.	10;10	Q96GC6-2;Q96GC6	.;ZN274_HUMAN	T	10	ENSP00000321209:S10T;ENSP00000321187:S10T	ENSP00000321209:S10T	S	+	1	0	ZNF274	63387172	0.187000	0.23238	0.236000	0.24074	0.975000	0.68041	0.094000	0.15107	0.222000	0.20900	0.460000	0.39030	TCC		0.572	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		A	58695360	T	A	58695360	3	1	486	1	0	0	0	0	1	0	0	0	17814	1667	58	5	30	5	ZNF274	19	58695360	Missense_Mutation	SNP	T	TCGA-CJ-4634-01A-02D-1386-10	6368337	58695360	433623	86	26314											
TMC2	117532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2616597	2616597	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr20:2616597G>T	ENST00000358864.1	+	18	2347	c.2332G>T	c.(2332-2334)Gtt>Ttt	p.V778F		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	778					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGAACTCAGTTTCCAAAAG	0.493																																																0													110	94	99					20																	2616597		2203	4300	6503	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2332G>T	20.37:g.2616597G>T	ENSP00000351732:p.Val778Phe		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250915	0.80135	.	.	ENSG00000149488	ENST00000358864	T	0.68903	-0.36	5.53	5.53	0.82687	.	0.121832	0.53938	D	0.000044	T	0.79499	0.4456	M	0.73217	2.22	0.50313	D	0.999865	D	0.63046	0.992	D	0.64237	0.923	T	0.80951	-0.1153	10	0.72032	D	0.01	-14.8062	15.3352	0.74247	0.0:0.0:1.0:0.0	.	778	Q8TDI7	TMC2_HUMAN	F	778	ENSP00000351732:V778F	ENSP00000351732:V778F	V	+	1	0	TMC2	2564597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.484000	0.60271	2.766000	0.95052	0.655000	0.94253	GTT		0.493	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			T	2616597	G	T	2616597	3	4	486	1	0	0	0	0	1	0	0	0	15990	1029	36	4	2402	4	TMC2	20	2616597	Missense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10		2616597	60408923	87	26315											
SIGLEC1	6614	broad.mit.edu	37	20	3679976	3679976	+	Silent	SNP	G	G	A	rs369763140		TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr20:3679976G>A	ENST00000344754.4	-	7	1658	c.1659C>T	c.(1657-1659)caC>caT	p.H553H	SIGLEC1_ENST00000202578.4_Silent_p.H553H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	553	Ig-like C2-type 5.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGGGACCCTCGTGAAGCAGGG	0.677																																																0								G		2,4402		0,2,2200	38	28	32		1659	-6.3	0	20		32	0,8596		0,0,4298	no	coding-synonymous	SIGLEC1	NM_023068.3		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		553/1710	3679976	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1659C>T	20.37:g.3679976G>A			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1																																																																																				0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		A	3679976	G	A	3679976	2	1	486	1	0	0	0	0	0	0	0	1	14311	1136	40	1		1	SIGLEC1	20	3679976	Silent	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	1063379	3679976	59345544	88	26316											
DSCR6	53820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	38390298	38390298	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr21:38390298G>A	ENST00000329553.2	+	4	574	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	122					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											GTCTGCTTCCGAAGCTGAAGA	0.582																																																0													44	42	43					21																	38390298		2203	4300	6503	SO:0001583	missense	53820			AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.364G>A	21.37:g.38390298G>A	ENSP00000331734:p.Glu122Lys			Missense_Mutation	SNP	ENST00000329553.2	37	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840912	0.51057	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.37839	0.1018	N	0.19112	0.55	0.09310	N	0.999997	D	0.60160	0.987	P	0.53988	0.739	T	0.23119	-1.0197	8	0.62326	D	0.03	0.0089	14.0406	0.64672	0.0:0.0:1.0:0.0	.	122	P57055	DSCR6_HUMAN	K	122	.	ENSP00000331734:E122K	E	+	1	0	DSCR6	37312168	0.951000	0.32395	0.057000	0.19452	0.001000	0.01503	5.206000	0.65192	2.583000	0.87209	0.561000	0.74099	GAA		0.582	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			A	38390298	G	A	38390298	3	1	486	1	0	0	0	0	1	0	0	0	4775	1059	37	1	378	1	DSCR6	21	38390298	Missense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10		38390298	9739597	89	26317											
DIP2A	23181	broad.mit.edu;ucsc.edu	37	21	47980645	47980645	+	Missense_Mutation	SNP	G	G	T	rs370283379		TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chr21:47980645G>T	ENST00000417564.2	+	33	4001	c.3980G>T	c.(3979-3981)gGc>gTc	p.G1327V	DIP2A_ENST00000318711.7_Missense_Mutation_p.G1328V|DIP2A_ENST00000400274.1_Missense_Mutation_p.G1323V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1327					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCACAGCTGGCCCGGACCCC	0.597																																																0								G	VAL/GLY,VAL/GLY	0,3982		0,0,1991	28	32	30		3968,3980	5.6	1	21		30	1,8329		0,1,4164	no	missense,missense	DIP2A	NM_001146116.1,NM_015151.3	109,109	0,1,6155	TT,TG,GG		0.012,0.0,0.0081	possibly-damaging,possibly-damaging	1323/1568,1327/1572	47980645	1,12311	1991	4165	6156	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.3980G>T	21.37:g.47980645G>T	ENSP00000392066:p.Gly1327Val		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841350	0.91197	0.0	1.2E-4	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.11169	2.8;2.8;2.8	5.58	5.58	0.84498	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.11012	-1.0605	10	0.59425	D	0.04	-25.6345	18.5491	0.91057	0.0:0.0:1.0:0.0	.	1328;1327	E9PER1;Q14689	.;DIP2A_HUMAN	V	1323;1328;1327	ENSP00000383133:G1323V;ENSP00000323633:G1328V;ENSP00000392066:G1327V	ENSP00000323633:G1328V	G	+	2	0	DIP2A	46805073	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	9.689000	0.98673	2.645000	0.89757	0.655000	0.94253	GGC		0.597	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		T	47980645	G	T	47980645	3	4	486	1	0	0	0	0	1	0	0	0	4529	1203	42	4	4223	4	DIP2A	21	47980645	Missense_Mutation	SNP	G	TCGA-CJ-4634-01A-02D-1386-10	9590347	47980645	149250	90	26318											
BCOR	54880	hgsc.bcm.edu;ucsc.edu	37	X	39921479	39921479	+	Silent	SNP	G	G	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chrX:39921479G>C	ENST00000378444.4	-	10	4569	c.4341C>G	c.(4339-4341)cgC>cgG	p.R1447R	BCOR_ENST00000342274.4_Silent_p.R1413R|BCOR_ENST00000397354.3_Silent_p.R1413R|BCOR_ENST00000378463.1_Silent_p.R290R|BCOR_ENST00000378455.4_Silent_p.R1395R	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1447					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCGGCATAGGGCGAGACTGGG	0.602			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													90	67	75					X																	39921479		2202	4300	6502	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4341C>G	X.37:g.39921479G>C			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	9.369	1.069908	0.20147	.	.	ENSG00000183337	ENST00000427012	.	.	.	5.53	2.73	0.32206	.	.	.	.	.	T	0.43411	0.1246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25813	-1.0121	4	.	.	.	-20.5587	1.507	0.02488	0.2411:0.2783:0.3504:0.1302	.	.	.	.	G	142	.	.	A	-	2	0	BCOR	39806423	0.956000	0.32656	0.996000	0.52242	0.933000	0.57130	0.050000	0.14120	0.133000	0.18654	-0.192000	0.12808	GCC		0.602	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		C	39921479	G	C	39921479	2	2	486	1	0	0	0	0	0	0	0	1	1386	1190	42	4		4	BCOR	23	39921479	Silent	SNP	G	TCGA-CJ-4634-01A-02D-1386-10		39921479	115349081	91	26319											
NRK	203447	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	105132300	105132300	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chrX:105132300A>C	ENST00000243300.9	+	5	569	c.266A>C	c.(265-267)gAt>gCt	p.D89A	NRK_ENST00000428173.2_Missense_Mutation_p.D89A|NRK_ENST00000536164.1_Missense_Mutation_p.D89A	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	89	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAGGAAGAGGATCTCAGGACT	0.423										HNSCC(51;0.14)																																						0													101	84	90					X																	105132300		1893	4097	5990	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.266A>C	X.37:g.105132300A>C	ENSP00000434830:p.Asp89Ala		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	A	15.52	2.858130	0.51376	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.48522	1.89;1.89;0.81	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000406	T	0.56499	0.1989	L	0.33668	1.02	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.60209	-0.7308	10	0.72032	D	0.01	.	12.6741	0.56884	1.0:0.0:0.0:0.0	.	89	Q7Z2Y5	NRK_HUMAN	A	89	ENSP00000434830:D89A;ENSP00000438378:D89A;ENSP00000438785:D89A	ENSP00000434830:D89A	D	+	2	0	NRK	105018956	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	9.147000	0.94646	1.741000	0.51731	0.481000	0.45027	GAT		0.423	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		C	105132300	A	C	105132300	3	2	486	1	0	0	0	0	1	0	0	0	10657	333	12	5	284	5	NRK	23	105132300	Missense_Mutation	SNP	A	TCGA-CJ-4634-01A-02D-1386-10	65210821	105132300	50138260	92	26320											
FMR1NB	158521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	147088242	147088242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4634-01A-02D-1386-10	TCGA-CJ-4634-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	59f18fac-c6f8-4cbf-9259-8c22d6ba0c58	2edd8e13-514b-40ec-ace4-86e733c0f94e	g.chrX:147088242C>T	ENST00000370467.3	+	3	492	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	140	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGAAAATCAGGTGGCAAA	0.378																																																0													161	152	155					X																	147088242		2203	4300	6503	SO:0001587	stop_gained	158521				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.418C>T	X.37:g.147088242C>T	ENSP00000359498:p.Gln140*		D3DWT3	Nonsense_Mutation	SNP	ENST00000370467.3	37	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901518	0.72754	.	.	ENSG00000176988	ENST00000370467	.	.	.	5.32	0.0925	0.14473	.	0.377799	0.19429	N	0.114485	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-15.2649	8.5482	0.33435	0.2775:0.3229:0.3996:0.0	.	.	.	.	X	140	.	ENSP00000359498:Q140X	Q	+	1	0	FMR1NB	146895934	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.120000	0.10660	-0.472000	0.06881	-0.292000	0.09595	CAG		0.378	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		T	147088242	C	T	147088242	4	4	486	1	0	0	0	0	0	1	0	0	5963	827	29	2	428	2	FMR1NB	23	147088242	Nonsense_Mutation	SNP	C	TCGA-CJ-4634-01A-02D-1386-10	41955942	147088242	8182318	93	26321											
PPIH	10465	hgsc.bcm.edu;ucsc.edu	37	1	43124123	43124123	+	Silent	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr1:43124123G>A	ENST00000304979.3	+	1	28	c.6G>A	c.(4-6)gcG>gcA	p.A2A	PPIH_ENST00000372549.1_5'Flank|PPIH_ENST00000455203.2_5'Flank|PPIH_ENST00000372550.1_5'Flank	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	2					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|ribonucleoprotein complex binding (GO:0043021)			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	GAGCCATGGCGGTGGCAAATT	0.617																																					NSCLC(73;23 1942 10718 46854)											0													116	109	112					1																	43124123		2203	4300	6503	SO:0001819	synonymous_variant	10465			AF016371	CCDS469.1	1p34.1	2012-06-07	2006-01-12		ENSG00000171960	ENSG00000171960			14651	protein-coding gene	gene with protein product	"USA-CyP SnuCyp-20", "cyclophilin H", "U-snRNP-associated cyclophilin SunCyp-20", "small nuclear ribonucleoprotein particle-specific cyclophilin H", "rotamase H", "peptidyl-prolyl cis-trans isomerase H", "PPIase h"	606095	"peptidyl prolyl isomerase H (cyclophilin H)"			9404889, 9570313	Standard	NM_006347		Approved	USA-CYP, CYP-20, SnuCyp-20, CYPH, MGC5016	uc001chq.3	O43447	OTTHUMG00000007520	ENST00000304979.3:c.6G>A	1.37:g.43124123G>A			A6NNE7	Silent	SNP	ENST00000304979.3	37	CCDS469.1																																																																																				0.617	PPIH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019778.1	NM_006347		A	43124123	G	A	43124123	2	1	487	1	0	0	0	0	0	0	0	1	12330	1103	39	1		1	PPIH	1	43124123	Silent	SNP	G	TCGA-CJ-4635-01A-02D-1373-10		43124123	206126498	1	26322											
RAB3B	5865	hgsc.bcm.edu;ucsc.edu	37	1	52385647	52385647	+	Silent	SNP	C	C	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr1:52385647C>T	ENST00000371655.3	-	5	824	c.612G>A	c.(610-612)acG>acA	p.T204T		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	204					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						CCGAGAGACGCGTGTTCTTGG	0.602																																																0													117	94	102					1																	52385647		2203	4300	6503	SO:0001819	synonymous_variant	5865			BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"RAB, member RAS oncogene"	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.612G>A	1.37:g.52385647C>T			Q5VUL2|Q9BSI1	Silent	SNP	ENST00000371655.3	37	CCDS560.1																																																																																				0.602	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023816.1	NM_002867		T	52385647	C	T	52385647	2	4	487	1	0	0	0	0	0	0	0	1	12938	755	27	1		1	RAB3B	1	52385647	Silent	SNP	C	TCGA-CJ-4635-01A-02D-1373-10	9261524	52385647	196864974	2	26323											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144906421	144906421	+	Splice_Site	SNP	C	C	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr1:144906421C>G	ENST00000369354.3	-	18	2625	c.2436G>C	c.(2434-2436)aaG>aaC	p.K812N	PDE4DIP_ENST00000369351.3_Splice_Site_p.K812N|PDE4DIP_ENST00000313382.9_Splice_Site_p.K878N|PDE4DIP_ENST00000369359.4_Splice_Site_p.K949N|PDE4DIP_ENST00000479408.2_Splice_Site_p.K599N|PDE4DIP_ENST00000313431.9_Splice_Site_p.K975N|PDE4DIP_ENST00000369349.3_Splice_Site_p.K812N|PDE4DIP_ENST00000369356.4_Splice_Site_p.K812N|PDE4DIP_ENST00000530740.1_Splice_Site_p.K949N|PDE4DIP_ENST00000529945.1_Splice_Site_p.K975N|PDE4DIP_ENST00000524974.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	812					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTGAAAGACCTTTATGAGAT	0.443			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													108	110	109					1																	144906421		2203	4296	6499	SO:0001630	splice_region_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2436+1G>C	1.37:g.144906421C>G			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645960	0.67358	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.13901	4.57;4.63;4.63;4.69;4.66;3.61;3.63;2.59;2.59;2.55	6.07	6.07	0.98685	.	.	.	.	.	T	0.19685	0.0473	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.991;0.999;0.997;0.997	T	0.00915	-1.1516	8	.	.	.	.	18.3129	0.90207	0.0:1.0:0.0:0.0	.	975;812;975;878;812	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	N	878;812;812;975;949;949;812;812;975;975;599	ENSP00000327209:K878N;ENSP00000358360:K812N;ENSP00000358363:K812N;ENSP00000435654:K949N;ENSP00000358366:K949N;ENSP00000358357:K812N;ENSP00000358355:K812N;ENSP00000316434:K975N;ENSP00000433392:K975N;ENSP00000436791:K599N	.	K	-	3	2	PDE4DIP	143617778	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	5.379000	0.66196	2.928000	0.99379	0.638000	0.83543	AAG		0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Missense_Mutation	G	144906421	C	G	144906421	5	3	487	1	0	0	0	0	0	0	1	0	11645	695	24	4	4722	4	PDE4DIP	1	144906421	Splice_Site	SNP	C	TCGA-CJ-4635-01A-02D-1373-10	92520774	144906421	104344200	3	26324											
TARS2	80222	hgsc.bcm.edu;ucsc.edu	37	1	150460370	150460370	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr1:150460370C>G	ENST00000369064.3	+	2	137	c.103C>G	c.(103-105)Cgg>Ggg	p.R35G	TARS2_ENST00000438568.2_Missense_Mutation_p.R35G|TARS2_ENST00000606933.1_Missense_Mutation_p.R35G|TARS2_ENST00000369054.2_Missense_Mutation_p.R35G	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	35					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GTTGGCAGAGCGGCTTGGCCT	0.502																																																0													67	73	71					1																	150460370		2203	4300	6503	SO:0001583	missense	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.103C>G	1.37:g.150460370C>G	ENSP00000358060:p.Arg35Gly		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	CCDS952.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301880	0.81136	.	.	ENSG00000143374	ENST00000438568;ENST00000369054;ENST00000369064;ENST00000369053	.	.	.	5.09	3.01	0.34805	.	0.070681	0.56097	D	0.000031	T	0.68613	0.3020	M	0.69823	2.125	0.46609	D	0.999123	D;D	0.89917	0.999;1.0	D;D	0.85130	0.995;0.997	T	0.72962	-0.4132	9	0.87932	D	0	-12.0086	10.3953	0.44196	0.528:0.472:0.0:0.0	.	35;35	Q9H9V2;Q9BW92	.;SYTM_HUMAN	G	35	.	ENSP00000358049:R35G	R	+	1	2	TARS2	148726994	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.247000	0.32815	1.293000	0.44690	0.561000	0.74099	CGG		0.502	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		G	150460370	C	G	150460370	3	3	487	1	0	0	0	0	1	0	0	0	15565	759	27	4	109	4	TARS2	1	150460370	Missense_Mutation	SNP	C	TCGA-CJ-4635-01A-02D-1373-10	5553949	150460370	98790251	4	26325											
ANXA4	307	hgsc.bcm.edu;ucsc.edu	37	2	70008703	70008703	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr2:70008703C>A	ENST00000536030.1	+	0	124				ANXA4_ENST00000394295.4_Silent_p.A2A|ANXA4_ENST00000409920.1_Silent_p.A2A			P09525	ANXA4_HUMAN	annexin A4						epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						GAGTCATGGCCATGGTAAGTT	0.443																																																0													145	116	126					2																	70008703		2203	4300	6503			307			M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"Annexins"	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000536030.1:c.-282C>A	2.37:g.70008703C>A			B4DDF9|Q96F33|Q9BWK1	Silent	SNP	ENST00000536030.1	37																																																																																					0.443	ANXA4-201	KNOWN	basic	protein_coding	protein_coding		NM_001153		A	70008703	C	A	70008703	1	1	487	1	0	1	0	0	0	0	0	0	720	581	21	4		4	ANXA4	2	70008703	De_novo_Start_OutOfFrame	SNP	C	TCGA-CJ-4635-01A-02D-1373-10		70008703	173190670	5	26326											
SLC9A4	389015	hgsc.bcm.edu;ucsc.edu	37	2	103148953	103148953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr2:103148953G>T	ENST00000295269.4	+	12	2660	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	735					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AAGCCAAGAAGAGTACTTGGG	0.488																																																0													93	76	82					2																	103148953		2203	4300	6503	SO:0001587	stop_gained	389015				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2203G>T	2.37:g.103148953G>T	ENSP00000295269:p.Glu735*		Q69YK0	Nonsense_Mutation	SNP	ENST00000295269.4	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	38	7.285073	0.98186	.	.	ENSG00000180251	ENST00000295269	.	.	.	4.89	1.78	0.24846	.	1.222410	0.05433	N	0.546318	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.3763	0.26831	0.0915:0.3238:0.5847:0.0	.	.	.	.	X	735	.	ENSP00000295269:E735X	E	+	1	0	SLC9A4	102515385	0.098000	0.21812	0.001000	0.08648	0.016000	0.09150	2.150000	0.42254	0.548000	0.28955	0.655000	0.94253	GAG		0.488	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		T	103148953	G	T	103148953	4	4	487	1	0	0	0	0	0	1	0	0	14722	943	33	4	2249	4	SLC9A4	2	103148953	Nonsense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	33140250	103148953	140050420	6	26327											
DNAJC10	54431	hgsc.bcm.edu	37	2	183622508	183622508	+	Silent	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr2:183622508G>A	ENST00000264065.7	+	19	2314	c.1899G>A	c.(1897-1899)gaG>gaA	p.E633E		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	633	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.			E -> K (in Ref. 8; CAB70858). {ECO:0000305}.	cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GATACCCTGAGATAAGATTTT	0.308																																					Pancreas(56;860 1183 25669 35822 48585)											0													70	76	74					2																	183622508		2203	4300	6503	SO:0001819	synonymous_variant	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1899G>A	2.37:g.183622508G>A			Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	CCDS33345.1																																																																																				0.308	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		A	183622508	G	A	183622508	2	1	487	1	0	0	0	0	0	0	0	1	4631	933	33	2		2	DNAJC10	2	183622508	Silent	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	80473555	183622508	59576865	7	26328											
ALAS1	211	hgsc.bcm.edu	37	3	52239907	52239907	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr3:52239907G>C	ENST00000394965.2	+	7	1213	c.853G>C	c.(853-855)Gga>Cga	p.G285R	ALAS1_ENST00000310271.2_Missense_Mutation_p.G285R|ALAS1_ENST00000469224.1_Missense_Mutation_p.G285R|ALAS1_ENST00000484952.1_Missense_Mutation_p.G285R	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	285					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AAATATTTCTGGAACTAGTAA	0.443																																																0													111	115	114					3																	52239907		2203	4300	6503	SO:0001583	missense	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.853G>C	3.37:g.52239907G>C	ENSP00000378416:p.Gly285Arg			Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277922	0.95459	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3	5.83	5.83	0.93111	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	H	0.99906	4.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97927	1.0318	10	0.87932	D	0	-17.9898	20.1005	0.97872	0.0:0.0:1.0:0.0	.	302;285	B4DVA0;P13196	.;HEM1_HUMAN	R	285	ENSP00000417719:G285R;ENSP00000378416:G285R;ENSP00000309259:G285R;ENSP00000418779:G285R	ENSP00000309259:G285R	G	+	1	0	ALAS1	52214947	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.793000	0.99091	2.758000	0.94735	0.467000	0.42956	GGA		0.443	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			C	52239907	G	C	52239907	3	2	487	1	0	0	0	0	1	0	0	0	484	1349	47	4	871	4	ALAS1	3	52239907	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10		52239907	145782523	8	26329											
PBRM1	55193	hgsc.bcm.edu	37	3	52713700	52713700	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr3:52713700A>T	ENST00000296302.7	-	1	29	c.28T>A	c.(28-30)Tcc>Acc	p.S10T	PBRM1_ENST00000410007.1_Missense_Mutation_p.S10T|PBRM1_ENST00000356770.4_Missense_Mutation_p.S10T|PBRM1_ENST00000409114.3_Missense_Mutation_p.S10T|PBRM1_ENST00000394830.3_Missense_Mutation_p.S10T|PBRM1_ENST00000409767.1_Missense_Mutation_p.S10T|PBRM1_ENST00000409057.1_Missense_Mutation_p.S10T|PBRM1_ENST00000337303.4_Missense_Mutation_p.S10T			Q86U86	PB1_HUMAN	polybromo 1	10					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGGAAGGGGAGGTAGCTCTT	0.458			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													90	85	87					3																	52713700		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.28T>A	3.37:g.52713700A>T	ENSP00000296302:p.Ser10Thr		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	21.6	4.174006	0.78452	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271;ENST00000439181;ENST00000458294;ENST00000424867	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52983	1.06;1.01;1.02;0.99;1.01;1.01;1.45;0.99;1.01;0.89;0.94;0.91;0.64	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	L	0.54323	1.7	0.58432	D	0.999996	D;D;D;D;D;D;D;D	0.76494	0.99;0.974;0.99;0.974;0.999;0.982;0.99;0.974	D;D;D;D;D;D;D;D	0.80764	0.979;0.969;0.979;0.969;0.994;0.952;0.979;0.969	T	0.67397	-0.5681	10	0.72032	D	0.01	-6.3538	15.8614	0.79026	1.0:0.0:0.0:0.0	.	10;10;10;10;10;10;10;10	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	T	10	ENSP00000349213:S10T;ENSP00000378307:S10T;ENSP00000296302:S10T;ENSP00000338302:S10T;ENSP00000386593:S10T;ENSP00000386529:S10T;ENSP00000386643:S10T;ENSP00000386601:S10T;ENSP00000387775:S10T;ENSP00000409939:S10T;ENSP00000389390:S10T;ENSP00000412401:S10T;ENSP00000416851:S10T	ENSP00000296302:S10T	S	-	1	0	PBRM1	52688740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.142000	0.66516	0.477000	0.44152	TCC		0.458	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52713700	A	T	52713700	3	4	487	1	0	0	0	0	1	0	0	0	11493	304	11	5	4992	5	PBRM1	3	52713700	Missense_Mutation	SNP	A	TCGA-CJ-4635-01A-02D-1373-10	473793	52713700	145308730	9	26330											
ZNF732	654254	hgsc.bcm.edu;ucsc.edu	37	4	265943	265943	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr4:265943A>G	ENST00000419098.1	-	4	713	c.703T>C	c.(703-705)Tcc>Ccc	p.S235P		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						AAGTTTGAGGATGTGGTAAAG	0.338																																																0													80	70	73					4																	265943		692	1591	2283	SO:0001583	missense	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.703T>C	4.37:g.265943A>G	ENSP00000415774:p.Ser235Pro			Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	A	4.901	0.167475	0.09339	.	.	ENSG00000186777	ENST00000419098	T	0.61274	0.12	0.946	-1.48	0.08745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35008	0.0917	N	0.20610	0.595	0.09310	N	1	P	0.37781	0.608	B	0.37144	0.242	T	0.24154	-1.0168	9	0.44086	T	0.13	.	3.3894	0.07283	0.4025:0.0:0.0:0.5974	.	235	B4DXR9	ZN732_HUMAN	P	235	ENSP00000415774:S235P	ENSP00000415774:S235P	S	-	1	0	ZNF732	255943	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.077000	0.11394	0.339000	0.23719	0.329000	0.21502	TCC		0.338	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		G	265943	A	G	265943	3	3	487	1	0	0	0	0	1	0	0	0	18128	333	12	3	1058	3	ZNF732	4	265943	Missense_Mutation	SNP	A	TCGA-CJ-4635-01A-02D-1373-10		265943	190888333	10	26331											
PDS5A	23244	hgsc.bcm.edu;ucsc.edu	37	4	39929780	39929780	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr4:39929780A>G	ENST00000303538.8	-	3	682	c.143T>C	c.(142-144)gTa>gCa	p.V48A	PDS5A_ENST00000503396.1_Missense_Mutation_p.V48A	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GGTTTTCACTACCATCTGTAA	0.353																																																0													73	64	67					4																	39929780		1841	4095	5936	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.143T>C	4.37:g.39929780A>G	ENSP00000303427:p.Val48Ala			Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544585	0.86022	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	L	0.46157	1.445	0.80722	D	1	P;D	0.71674	0.917;0.998	P;D	0.65010	0.693;0.931	T	0.66728	-0.5850	8	.	.	.	-10.3992	15.7319	0.77814	1.0:0.0:0.0:0.0	.	48;48	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	A	48	.	.	V	-	2	0	PDS5A	39606175	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.339000	0.96797	2.109000	0.64355	0.482000	0.46254	GTA		0.353	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		G	39929780	A	G	39929780	3	3	487	1	0	0	0	0	1	0	0	0	11693	391	14	3	4027	3	PDS5A	4	39929780	Missense_Mutation	SNP	A	TCGA-CJ-4635-01A-02D-1373-10	39663837	39929780	151224496	11	26332											
HERC3	8916	hgsc.bcm.edu;ucsc.edu	37	4	89583638	89583638	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr4:89583638A>C	ENST00000402738.1	+	11	1442	c.1203A>C	c.(1201-1203)ttA>ttC	p.L401F	HERC3_ENST00000264345.3_Missense_Mutation_p.L401F|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	401					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		ATACCAGTTTAATAAATGATG	0.333																																																0													114	108	110					4																	89583638		2203	4300	6503	SO:0001583	missense	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1203A>C	4.37:g.89583638A>C	ENSP00000385684:p.Leu401Phe		A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505457	0.44558	.	.	ENSG00000138641	ENST00000402738;ENST00000264345	T;T	0.42900	0.96;0.96	4.57	4.57	0.56435	.	0.171891	0.41500	D	0.000880	T	0.20292	0.0488	N	0.08118	0	0.80722	D	1	B	0.15141	0.012	B	0.14023	0.01	T	0.08848	-1.0702	10	0.09843	T	0.71	.	10.5489	0.45077	0.8381:0.1619:0.0:0.0	.	401	Q15034	HERC3_HUMAN	F	401	ENSP00000385684:L401F;ENSP00000264345:L401F	ENSP00000264345:L401F	L	+	3	2	HERC3	89802661	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.840000	0.39230	2.044000	0.60594	0.533000	0.62120	TTA		0.333	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		C	89583638	A	C	89583638	3	2	487	1	0	0	0	0	1	0	0	0	7061	359	13	5	1237	5	HERC3	4	89583638	Missense_Mutation	SNP	A	TCGA-CJ-4635-01A-02D-1373-10	49653858	89583638	101570638	12	26333											
ANK2	287	hgsc.bcm.edu	37	4	114170963	114170963	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr4:114170963A>G	ENST00000357077.4	+	10	988	c.935A>G	c.(934-936)gAc>gGc	p.D312G	ANK2_ENST00000506722.1_Missense_Mutation_p.D291G|ANK2_ENST00000264366.6_Missense_Mutation_p.D312G|ANK2_ENST00000394537.3_Missense_Mutation_p.D312G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	312					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTGGGCATGACCAAGTGGTG	0.443																																																0													104	98	100					4																	114170963		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.935A>G	4.37:g.114170963A>G	ENSP00000349588:p.Asp312Gly		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035034	0.75617	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71222	-0.55;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.81	5.81	0.92471	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000015	T	0.69833	0.3155	N	0.04724	-0.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.982;1.0;1.0;0.998	D;D;D;D;D	0.97110	1.0;0.939;0.999;0.999;0.996	T	0.75190	-0.3405	10	0.40728	T	0.16	.	16.1616	0.81721	1.0:0.0:0.0:0.0	.	312;312;312;291;291	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	G	291;291;291;327;312;312;312;291	ENSP00000423799:D291G;ENSP00000421011:D291G;ENSP00000421067:D291G;ENSP00000424722:D327G;ENSP00000378044:D312G;ENSP00000349588:D312G;ENSP00000264366:D312G	ENSP00000264366:D312G	D	+	2	0	ANK2	114390412	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	9.339000	0.96797	2.221000	0.72209	0.454000	0.30748	GAC		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		G	114170963	A	G	114170963	3	3	487	1	0	0	0	0	1	0	0	0	621	275	10	3	998	3	ANK2	4	114170963	Missense_Mutation	SNP	A	TCGA-CJ-4635-01A-02D-1373-10	24587325	114170963	76983313	13	26334											
ANKRD55	79722	hgsc.bcm.edu	37	5	55455707	55455707	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr5:55455707G>T	ENST00000341048.4	-	6	587	c.436C>A	c.(436-438)Ctg>Atg	p.L146M	ANKRD55_ENST00000504958.2_Missense_Mutation_p.L146M|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000513241.2_Missense_Mutation_p.L117M	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	146										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGTTGCAACAGGACCGTGAGG	0.448																																																0													128	114	119					5																	55455707		2203	4300	6503	SO:0001583	missense	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.436C>A	5.37:g.55455707G>T	ENSP00000342295:p.Leu146Met		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023613	0.54683	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.66995	1.33;-0.24;-0.24	5.33	4.34	0.51931	.	0.000000	0.64402	D	0.000004	T	0.82213	0.4988	M	0.88775	2.98	0.40530	D	0.98092	D	0.76494	0.999	D	0.87578	0.998	D	0.84093	0.0391	10	0.87932	D	0	.	8.8775	0.35354	0.1202:0.0:0.8798:0.0	.	146	B3KVT8	.	M	146;146;146;117;146	ENSP00000342295:L146M;ENSP00000424230:L146M;ENSP00000423507:L117M	ENSP00000342295:L146M	L	-	1	2	ANKRD55	55491464	1.000000	0.71417	0.995000	0.50966	0.583000	0.36354	2.418000	0.44662	1.108000	0.41662	0.650000	0.86243	CTG		0.448	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		T	55455707	G	T	55455707	3	4	487	1	0	0	0	0	1	0	0	0	681	991	35	4	1436	4	ANKRD55	5	55455707	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10		55455707	125459553	14	26335											
AP3B1	8546	hgsc.bcm.edu	37	5	77406143	77406143	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr5:77406143G>A	ENST00000255194.6	-	20	2460	c.2285C>T	c.(2284-2286)tCt>tTt	p.S762F	AP3B1_ENST00000519295.1_Missense_Mutation_p.S713F	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	762	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGAAGTTTTAGATTTTTCATT	0.308									Hermansky-Pudlak syndrome																																							0													56	53	54					5																	77406143		2199	4296	6495	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2285C>T	5.37:g.77406143G>A	ENSP00000255194:p.Ser762Phe		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892147	0.52014	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	D;D	0.97328	-4.34;-4.34	5.68	3.6	0.41247	.	1.052430	0.07302	N	0.874226	D	0.94026	0.8086	L	0.34521	1.04	0.09310	N	1	B	0.31054	0.306	B	0.31191	0.125	D	0.88757	0.3254	10	0.72032	D	0.01	-4.0283	8.1551	0.31165	0.1122:0.1633:0.7245:0.0	.	762	O00203	AP3B1_HUMAN	F	762;713;762	ENSP00000255194:S762F;ENSP00000430597:S713F	ENSP00000255194:S762F	S	-	2	0	AP3B1	77441899	0.853000	0.29707	0.230000	0.23976	0.998000	0.95712	1.767000	0.38501	1.350000	0.45770	0.655000	0.94253	TCT		0.308	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			A	77406143	G	A	77406143	3	1	487	1	0	0	0	0	1	0	0	0	744	942	33	2	1031	2	AP3B1	5	77406143	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	21950436	77406143	103509117	15	26336											
IRF1	3659	hgsc.bcm.edu	37	5	131821389	131821389	+	Silent	SNP	C	C	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr5:131821389C>T	ENST00000245414.4	-	8	945	c.687G>A	c.(685-687)gaG>gaA	p.E229E	IRF1_ENST00000405885.2_Silent_p.E229E|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	229					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ATTTCCCTTCCTCATCCTCAT	0.537																																																0													311	225	254					5																	131821389		2203	4300	6503	SO:0001819	synonymous_variant	3659				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.687G>A	5.37:g.131821389C>T			Q96GG7	Silent	SNP	ENST00000245414.4	37	CCDS4155.1																																																																																				0.537	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		T	131821389	C	T	131821389	2	4	487	1	0	0	0	0	0	0	0	1	7829	680	24	2		2	IRF1	5	131821389	Silent	SNP	C	TCGA-CJ-4635-01A-02D-1373-10	54415246	131821389	49093871	16	26337											
MYLK4	340156	hgsc.bcm.edu;ucsc.edu	37	6	2678597	2678597	+	Silent	SNP	A	A	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr6:2678597A>G	ENST00000274643.7	-	10	1239	c.897T>C	c.(895-897)ggT>ggC	p.G299G	MYLK4_ENST00000268446.5_Silent_p.G299G	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AAGGCGACAAACCGCTAAGTC	0.488																																																0													95	85	88					6																	2678597		2203	4300	6503	SO:0001819	synonymous_variant	340156				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.897T>C	6.37:g.2678597A>G			A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	CCDS34330.1																																																																																				0.488	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		G	2678597	A	G	2678597	2	3	487	1	0	0	0	0	0	0	0	1	10061	30	2	3		3	MYLK4	6	2678597	Silent	SNP	A	TCGA-CJ-4635-01A-02D-1373-10		2678597	168436470	17	26338											
MDN1	23195	hgsc.bcm.edu;ucsc.edu	37	6	90362818	90362818	+	Missense_Mutation	SNP	G	G	A	rs149487165	byFrequency	TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr6:90362818G>A	ENST00000369393.3	-	94	15833	c.15718C>T	c.(15718-15720)Ccc>Tcc	p.P5240S	MDN1_ENST00000428876.1_Missense_Mutation_p.P5240S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5240					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTGTTCTGGGGTCTTGGTCT	0.393																																																0													272	265	267					6																	90362818		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15718C>T	6.37:g.90362818G>A	ENSP00000358400:p.Pro5240Ser		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	2.456	-0.325198	0.05350	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39592	1.07;1.07	6.17	3.47	0.39725	.	0.638714	0.16064	N	0.231346	T	0.13628	0.0330	L	0.54323	1.7	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.34054	-0.9844	10	0.08599	T	0.76	.	9.118	0.36769	0.2998:0.0:0.7002:0.0	.	5240	Q9NU22	MDN1_HUMAN	S	5240	ENSP00000358400:P5240S;ENSP00000413970:P5240S	ENSP00000358400:P5240S	P	-	1	0	MDN1	90419539	0.000000	0.05858	0.075000	0.20258	0.004000	0.04260	0.127000	0.15790	0.492000	0.27815	-0.150000	0.13652	CCC		0.393	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			A	90362818	G	A	90362818	3	1	487	1	0	0	0	0	1	0	0	0	9417	1232	43	2	1108	2	MDN1	6	90362818	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	87684221	90362818	80752249	18	26339											
HBS1L	10767	hgsc.bcm.edu	37	6	135300385	135300385	+	Missense_Mutation	SNP	G	G	C	rs145782441		TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr6:135300385G>C	ENST00000367837.5	-	14	1825	c.1619C>G	c.(1618-1620)cCt>cGt	p.P540R	HBS1L_ENST00000367824.4_Missense_Mutation_p.P376R|HBS1L_ENST00000367826.2_Missense_Mutation_p.P498R|HBS1L_ENST00000527578.1_Missense_Mutation_p.P376R|HBS1L_ENST00000415177.2_Missense_Mutation_p.P475R|HBS1L_ENST00000445176.2_Missense_Mutation_p.P264R	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	540					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)	p.P540L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CCAGTCGACAGGTTCATCATG	0.423																																																1	Substitution - Missense(1)	skin(1)											85	75	78					6																	135300385		2203	4299	6502	SO:0001583	missense	10767			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1619C>G	6.37:g.135300385G>C	ENSP00000356811:p.Pro540Arg		B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899346	0.72754	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.72	5.72	0.89469	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.205944	0.51477	D	0.000081	T	0.72961	0.3526	L	0.61036	1.89	0.58432	D	0.999998	D;D	0.63880	0.993;0.99	P;D	0.63703	0.865;0.917	T	0.74765	-0.3554	10	0.87932	D	0	-19.297	19.8674	0.96824	0.0:0.0:1.0:0.0	.	498;540	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	R	540;376;475;498;376;410;264	ENSP00000356811:P540R;ENSP00000436256:P376R;ENSP00000389826:P475R;ENSP00000356800:P498R;ENSP00000356798:P376R;ENSP00000434533:P410R;ENSP00000415305:P264R	ENSP00000356798:P376R	P	-	2	0	HBS1L	135342078	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.675000	0.98638	2.690000	0.91761	0.655000	0.94253	CCT		0.423	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			C	135300385	G	C	135300385	3	2	487	1	0	0	0	0	1	0	0	0	6989	1000	35	4	455	4	HBS1L	6	135300385	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	44937567	135300385	35814682	19	26340											
RGS17	26575	hgsc.bcm.edu;ucsc.edu	37	6	153345485	153345485	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr6:153345485T>C	ENST00000367225.2	-	3	380	c.356A>G	c.(355-357)gAc>gGc	p.D119G	RGS17_ENST00000206262.1_Missense_Mutation_p.D119G			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	119	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CTTCTTTAAGTCTTCACAAGC	0.383																																					Esophageal Squamous(78;500 1236 6775 24364 49058)											0													99	92	94					6																	153345485		2203	4300	6503	SO:0001583	missense	26575			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"Regulators of G-protein signaling"	14088	protein-coding gene	gene with protein product		607191	"regulator of G-protein signalling 17"			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.356A>G	6.37:g.153345485T>C	ENSP00000356194:p.Asp119Gly		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	37	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493791	0.84962	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.02140	4.43;4.43	6.03	6.03	0.97812	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.090833	0.85682	D	0.000000	T	0.04952	0.0133	M	0.74467	2.265	0.80722	D	1	B	0.34399	0.452	P	0.46975	0.533	T	0.02457	-1.1156	10	0.87932	D	0	-23.4152	16.5655	0.84588	0.0:0.0:0.0:1.0	.	119	Q9UGC6	RGS17_HUMAN	G	119	ENSP00000356194:D119G;ENSP00000206262:D119G	ENSP00000206262:D119G	D	-	2	0	RGS17	153387178	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.007000	0.88571	2.302000	0.77476	0.533000	0.62120	GAC		0.383	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			C	153345485	T	C	153345485	3	2	487	1	0	0	0	0	1	0	0	0	13305	1667	58	3	284	3	RGS17	6	153345485	Missense_Mutation	SNP	T	TCGA-CJ-4635-01A-02D-1373-10	18045100	153345485	17769582	20	26341											
KIAA1324L	222223	hgsc.bcm.edu;ucsc.edu	37	7	86548618	86548618	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr7:86548618C>G	ENST00000450689.2	-	11	1593	c.1408G>C	c.(1408-1410)Gtg>Ctg	p.V470L	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V230L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V470L|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V303L|KIAA1324L_ENST00000490995.1_5'UTR	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	470						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCTCCAGCCACCTCCCAACCT	0.328																																																0													58	58	58					7																	86548618		2203	4300	6503	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1408G>C	7.37:g.86548618C>G	ENSP00000413445:p.Val470Leu		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.172544|4.172544	0.78452|0.78452	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	.|T;T;T;T	.|0.55234	.|0.53;0.53;0.53;0.53	5.94|5.94	5.06|5.06	0.68205|0.68205	.|Growth factor, receptor (1);	.|0.055696	.|0.64402	.|D	.|0.000001	T|T	0.64962|0.64962	0.2646|0.2646	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.966;1.0;1.0	.|P;D;D	.|0.80764	.|0.747;0.994;0.994	T|T	0.60821|0.60821	-0.7187|-0.7187	5|10	.|0.17369	.|T	.|0.5	.|.	13.9742|13.9742	0.64262|0.64262	0.0:0.9278:0.0:0.0722|0.0:0.9278:0.0:0.0722	.|.	.|470;230;303	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	A|L	430|470;230;470;303	.|ENSP00000413445:V470L;ENSP00000297222:V230L;ENSP00000397377:V470L;ENSP00000402390:V303L	.|ENSP00000297222:V230L	G|V	-|-	2|1	0|0	KIAA1324L|KIAA1324L	86386554|86386554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.764000|7.764000	0.85297|0.85297	1.511000|1.511000	0.48818|0.48818	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.328	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		G	86548618	C	G	86548618	3	3	487	1	0	0	0	0	1	0	0	0	8226	507	18	4	1729	4	KIAA1324L	7	86548618	Missense_Mutation	SNP	C	TCGA-CJ-4635-01A-02D-1373-10		86548618	72590045	21	26342											
CNTLN	54875	hgsc.bcm.edu;ucsc.edu	37	9	17394889	17394889	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr9:17394889A>G	ENST00000380647.3	+	15	2521	c.2437A>G	c.(2437-2439)Aaa>Gaa	p.K813E	CNTLN_ENST00000262360.5_Missense_Mutation_p.K813E|CNTLN_ENST00000425824.1_Missense_Mutation_p.K813E			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	813					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GGCCACCATGAAAGTGAGATC	0.418																																																0													112	111	112					9																	17394889		1970	4166	6136	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2437A>G	9.37:g.17394889A>G	ENSP00000370021:p.Lys813Glu		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.731875	0.00005	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.16597	2.33;2.33;2.58	5.93	0.984	0.19773	.	.	.	.	.	T	0.04724	0.0128	N	0.01188	-0.97	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42292	-0.9460	9	0.02654	T	1	.	9.8945	0.41309	0.3014:0.0883:0.6104:0.0	.	813;813;813	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	E	813	ENSP00000370021:K813E;ENSP00000392798:K813E;ENSP00000262360:K813E	ENSP00000262360:K813E	K	+	1	0	CNTLN	17384889	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.714000	0.25808	-0.557000	0.06126	-4.378000	0.00006	AAA		0.418	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		G	17394889	A	G	17394889	3	3	487	1	0	0	0	0	1	0	0	0	3641	247	9	3	2525	3	CNTLN	9	17394889	Missense_Mutation	SNP	A	TCGA-CJ-4635-01A-02D-1373-10		17394889	123818542	22	26343											
COL15A1	1306	hgsc.bcm.edu;ucsc.edu	37	9	101759361	101759361	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr9:101759361A>T	ENST00000375001.3	+	6	1373	c.950A>T	c.(949-951)cAa>cTa	p.Q317L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	317	Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGCCCCAAACAAGGCAAGTCC	0.502																																																0													138	123	128					9																	101759361		2203	4300	6503	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.950A>T	9.37:g.101759361A>T	ENSP00000364140:p.Gln317Leu		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	3.818	-0.038293	0.07497	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.90385	-2.66	3.77	1.33	0.21861	.	2.646930	0.01029	N	0.004115	D	0.86285	0.5896	L	0.36672	1.1	0.30498	N	0.770693	B	0.18166	0.026	B	0.15484	0.013	T	0.71066	-0.4700	10	0.28530	T	0.3	-1.8668	8.1026	0.30865	0.5375:0.4625:0.0:0.0	.	317	P39059	COFA1_HUMAN	L	317;287	ENSP00000364140:Q317L	ENSP00000364140:Q317L	Q	+	2	0	COL15A1	100799182	1.000000	0.71417	0.928000	0.36995	0.078000	0.17371	1.319000	0.33655	0.265000	0.21872	0.402000	0.26972	CAA		0.502	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		T	101759361	A	T	101759361	3	4	487	1	0	0	0	0	1	0	0	0	3674	130	5	5	972	5	COL15A1	9	101759361	Missense_Mutation	SNP	A	TCGA-CJ-4635-01A-02D-1373-10	84364472	101759361	39454070	23	26344											
ARID5B	84159	hgsc.bcm.edu;ucsc.edu	37	10	63845486	63845486	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr10:63845486A>C	ENST00000279873.7	+	9	1635	c.1225A>C	c.(1225-1227)Att>Ctt	p.I409L	ARID5B_ENST00000309334.5_Missense_Mutation_p.I166L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	409	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGAAAGATTTATTAAAGGAGA	0.383																																																0													122	134	130					10																	63845486		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1225A>C	10.37:g.63845486A>C	ENSP00000279873:p.Ile409Leu		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995122	0.54147	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.60920	0.15;0.15	5.87	5.87	0.94306	ARID/BRIGHT DNA-binding domain (4);	0.144833	0.64402	D	0.000009	T	0.40297	0.1111	N	0.02181	-0.65	0.43271	D	0.995224	B;B	0.17268	0.021;0.006	B;B	0.40165	0.321;0.04	T	0.41288	-0.9517	10	0.09084	T	0.74	-12.4033	16.5764	0.84681	1.0:0.0:0.0:0.0	.	166;409	Q14865-2;Q14865	.;ARI5B_HUMAN	L	409;166	ENSP00000279873:I409L;ENSP00000308862:I166L	ENSP00000279873:I409L	I	+	1	0	ARID5B	63515492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.170000	0.58229	2.371000	0.80710	0.533000	0.62120	ATT		0.383	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		C	63845486	A	C	63845486	3	2	487	1	0	0	0	0	1	0	0	0	922	449	16	5	1259	5	ARID5B	10	63845486	Missense_Mutation	SNP	A	TCGA-CJ-4635-01A-02D-1373-10		63845486	71689261	24	26345											
MYPN	84665	hgsc.bcm.edu;ucsc.edu	37	10	69925513	69925513	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr10:69925513T>C	ENST00000358913.5	+	9	2026	c.1538T>C	c.(1537-1539)tTc>tCc	p.F513S	MYPN_ENST00000354393.2_Missense_Mutation_p.F238S|MYPN_ENST00000540630.1_Missense_Mutation_p.F513S	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	513	Ig-like 2.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCTGGGTGCTTCACATGTACT	0.433																																																0													156	127	137					10																	69925513		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1538T>C	10.37:g.69925513T>C	ENSP00000351790:p.Phe513Ser		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844174	0.91197	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.70869	-0.52;-0.52;-0.52	5.23	5.23	0.72850	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	D	0.88585	0.3139	9	.	.	.	.	15.1361	0.72566	0.0:0.0:0.0:1.0	.	513;238;513	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	S	238;238;513;513	ENSP00000346369:F238S;ENSP00000351790:F513S;ENSP00000441668:F513S	.	F	+	2	0	MYPN	69595519	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.665000	0.83852	1.969000	0.57287	0.459000	0.35465	TTC		0.433	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		C	69925513	T	C	69925513	3	2	487	1	0	0	0	0	1	0	0	0	10100	1783	62	3	1568	3	MYPN	10	69925513	Missense_Mutation	SNP	T	TCGA-CJ-4635-01A-02D-1373-10	6080027	69925513	65609234	25	26346											
ARHGAP19	84986	hgsc.bcm.edu;ucsc.edu	37	10	99019161	99019161	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr10:99019161T>G	ENST00000358531.4	-	5	866	c.838A>C	c.(838-840)Aat>Cat	p.N280H	ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.N280H|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.N271H|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.N280H|ARHGAP19_ENST00000487035.1_5'Flank|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.N271H|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.N280H	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	280	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		ACACTCACATTTTTTGGCCAC	0.453																																																0													314	251	273					10																	99019161		2203	4300	6503	SO:0001583	missense	84986			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.838A>C	10.37:g.99019161T>G	ENSP00000351333:p.Asn280His		A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857690	0.51376	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.44482	2.19;2.19;2.19;2.19;2.19;0.92	5.11	5.11	0.69529	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.119992	0.53938	U	0.000056	T	0.33294	0.0858	L	0.41492	1.28	0.25274	N	0.989493	B;B;B	0.19331	0.034;0.005;0.035	B;B;B	0.15870	0.014;0.011;0.009	T	0.14783	-1.0460	10	0.12766	T	0.61	-12.4652	14.8809	0.70531	0.0:0.0:0.0:1.0	.	280;280;271	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	H	280;280;271;280;271;99;280	ENSP00000414774:N280H;ENSP00000324468:N280H;ENSP00000347526:N271H;ENSP00000351333:N280H;ENSP00000360066:N271H;ENSP00000351058:N280H	ENSP00000324468:N280H	N	-	1	0	ARHGAP19	99009151	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.128000	0.57951	1.922000	0.55676	0.533000	0.62120	AAT		0.453	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		G	99019161	T	G	99019161	3	3	487	1	0	0	0	0	1	0	0	0	869	1841	64	5	678	5	ARHGAP19	10	99019161	Missense_Mutation	SNP	T	TCGA-CJ-4635-01A-02D-1373-10	29093648	99019161	36515586	26	26347											
FAM111B	374393	hgsc.bcm.edu;ucsc.edu	37	11	58877131	58877131	+	Silent	SNP	A	A	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr11:58877131A>C	ENST00000343597.3	+	3	224	c.33A>C	c.(31-33)tcA>tcC	p.S11S	FAM111B_ENST00000411426.1_Intron|FAM111B_ENST00000529618.1_Intron	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	11							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AAAACAAGTCATTTAGCGCTA	0.358																																																0													105	95	99					11																	58877131		2201	4295	6496	SO:0001819	synonymous_variant	374393			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.33A>C	11.37:g.58877131A>C			B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	CCDS7972.1																																																																																				0.358	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		C	58877131	A	C	58877131	2	2	487	1	0	0	0	0	0	0	0	1	5402	204	8	5		5	FAM111B	11	58877131	Silent	SNP	A	TCGA-CJ-4635-01A-02D-1373-10		58877131	76129385	27	26348											
BIRC2	329	hgsc.bcm.edu;ucsc.edu	37	11	102248743	102248743	+	Silent	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr11:102248743G>A	ENST00000227758.2	+	9	3085	c.1686G>A	c.(1684-1686)ttG>ttA	p.L562L	BIRC2_ENST00000530675.1_Silent_p.L513L|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Silent_p.L541L	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	562					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAGAACAATTGAGGAGGTTGC	0.338																																																0													132	124	126					11																	102248743		2203	4299	6502	SO:0001819	synonymous_variant	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1686G>A	11.37:g.102248743G>A			B4E026|Q16516|Q4TTG0	Silent	SNP	ENST00000227758.2	37	CCDS8316.1																																																																																				0.338	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		A	102248743	G	A	102248743	2	1	487	1	0	0	0	0	0	0	0	1	1435	1281	45	2		2	BIRC2	11	102248743	Silent	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	43371612	102248743	32757773	28	26349											
GLI1	2735	hgsc.bcm.edu	37	12	57865037	57865037	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr12:57865037T>G	ENST00000228682.2	+	12	2605	c.2514T>G	c.(2512-2514)agT>agG	p.S838R	GLI1_ENST00000546141.1_Missense_Mutation_p.S797R|GLI1_ENST00000543426.1_Missense_Mutation_p.S710R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	838					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCACCCCAGTGAGGGGCCCC	0.592																																					Pancreas(157;841 1936 10503 41495 50368)											0													64	74	70					12																	57865037		2203	4300	6503	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2514T>G	12.37:g.57865037T>G	ENSP00000228682:p.Ser838Arg		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	T	8.756	0.922512	0.17982	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.13420	2.7;2.59;2.67;2.67	4.62	3.45	0.39498	.	0.723538	0.12502	N	0.463253	T	0.10035	0.0246	N	0.22421	0.69	0.28309	N	0.922743	B	0.18166	0.026	B	0.20577	0.03	T	0.26395	-1.0104	10	0.25751	T	0.34	.	10.7475	0.46189	0.0:0.0:0.1602:0.8398	.	838	P08151	GLI1_HUMAN	R	710;838;797;797	ENSP00000437607:S710R;ENSP00000228682:S838R;ENSP00000441006:S797R;ENSP00000434408:S797R	ENSP00000228682:S838R	S	+	3	2	GLI1	56151304	0.000000	0.05858	0.902000	0.35471	0.506000	0.33950	0.133000	0.15912	0.888000	0.36160	0.397000	0.26171	AGT		0.592	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		G	57865037	T	G	57865037	3	3	487	1	0	0	0	0	1	0	0	0	6439	1693	59	5	2556	5	GLI1	12	57865037	Missense_Mutation	SNP	T	TCGA-CJ-4635-01A-02D-1373-10		57865037	75986858	29	26350											
GLI1	2735	hgsc.bcm.edu	37	12	57865608	57865608	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr12:57865608C>T	ENST00000228682.2	+	12	3176	c.3085C>T	c.(3085-3087)Ccc>Tcc	p.P1029S	GLI1_ENST00000546141.1_Missense_Mutation_p.P988S|GLI1_ENST00000543426.1_Missense_Mutation_p.P901S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1029					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTACCCTCCTCCCGAAGGACA	0.587																																					Pancreas(157;841 1936 10503 41495 50368)											0													144	134	137					12																	57865608		2203	4300	6503	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.3085C>T	12.37:g.57865608C>T	ENSP00000228682:p.Pro1029Ser		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217191	0.58560	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.15487	2.5;2.42;2.5;2.5	4.73	3.84	0.44239	.	0.363429	0.20852	N	0.084511	T	0.27524	0.0676	L	0.36672	1.1	0.48341	D	0.999632	D	0.89917	1.0	D	0.83275	0.996	T	0.01729	-1.1286	10	0.23302	T	0.38	.	10.4369	0.44441	0.0:0.9077:0.0:0.0923	.	1029	P08151	GLI1_HUMAN	S	901;1029;988;988;497	ENSP00000437607:P901S;ENSP00000228682:P1029S;ENSP00000441006:P988S;ENSP00000434408:P988S	ENSP00000228682:P1029S	P	+	1	0	GLI1	56151875	0.290000	0.24343	0.997000	0.53966	0.966000	0.64601	1.792000	0.38754	1.349000	0.45751	0.561000	0.74099	CCC		0.587	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		T	57865608	C	T	57865608	3	4	487	1	0	0	0	0	1	0	0	0	6439	855	30	2	3127	2	GLI1	12	57865608	Missense_Mutation	SNP	C	TCGA-CJ-4635-01A-02D-1373-10	571	57865608	75986287	30	26351											
PTPRR	5801	hgsc.bcm.edu	37	12	71092114	71092114	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr12:71092114A>C	ENST00000283228.2	-	8	1662	c.1210T>G	c.(1210-1212)Ttt>Gtt	p.F404V	PTPRR_ENST00000440835.2_Missense_Mutation_p.F159V|PTPRR_ENST00000549308.1_Missense_Mutation_p.F159V|PTPRR_ENST00000342084.4_Missense_Mutation_p.F292V|PTPRR_ENST00000378778.1_Missense_Mutation_p.F198V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	404	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGATCCACAAAGTTCATTGGT	0.338																																																0													68	71	70					12																	71092114		2203	4300	6503	SO:0001583	missense	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1210T>G	12.37:g.71092114A>C	ENSP00000283228:p.Phe404Val		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203253	0.79127	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	5.79	5.79	0.91817	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.53938	D	0.000046	T	0.52354	0.1729	L	0.60845	1.875	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	D;D;D;D	0.85130	0.992;0.988;0.997;0.992	T	0.47535	-0.9110	10	0.40728	T	0.16	-18.5495	16.1323	0.81449	1.0:0.0:0.0:0.0	.	253;292;198;404	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	V	159;404;198;292;159;159	ENSP00000391750:F159V;ENSP00000283228:F404V;ENSP00000368054:F198V;ENSP00000339605:F292V;ENSP00000446943:F159V;ENSP00000449616:F159V	ENSP00000283228:F404V	F	-	1	0	PTPRR	69378381	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.319000	0.72871	2.223000	0.72356	0.454000	0.30748	TTT		0.338	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		C	71092114	A	C	71092114	3	2	487	1	0	0	0	0	1	0	0	0	12816	72	3	5	791	5	PTPRR	12	71092114	Missense_Mutation	SNP	A	TCGA-CJ-4635-01A-02D-1373-10	13226506	71092114	62759781	31	26352											
NAA25	80018	hgsc.bcm.edu	37	12	112516503	112516503	+	Silent	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr12:112516503G>A	ENST00000261745.4	-	6	768	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	174						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						GCAAGGGGCAGAAACATTGTT	0.368																																																0													168	152	158					12																	112516503		2203	4300	6503	SO:0001819	synonymous_variant	80018			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.520C>T	12.37:g.112516503G>A			A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	8.105	0.777515	0.16120	.	.	ENSG00000111300	ENST00000547133	.	.	.	6.05	4.02	0.46733	.	.	.	.	.	T	0.48409	0.1498	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45131	-0.9282	4	.	.	.	-7.5836	4.3651	0.11220	0.4245:0.0:0.5755:0.0	.	.	.	.	F	135	.	.	S	-	2	0	NAA25	111000886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.161000	0.50747	1.577000	0.49804	0.650000	0.86243	TCT		0.368	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		A	112516503	G	A	112516503	2	1	487	1	0	0	0	0	0	0	0	1	10123	933	33	2		2	NAA25	12	112516503	Silent	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	41424389	112516503	21335392	32	26353											
FBXO21	23014	hgsc.bcm.edu;ucsc.edu	37	12	117627030	117627030	+	Splice_Site	SNP	A	A	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr12:117627030A>G	ENST00000330622.5	-	2	375		c.e2+1		FBXO21_ENST00000427718.2_Splice_Site|FBXO21_ENST00000549689.1_5'Flank			O94952	FBX21_HUMAN	F-box protein 21						protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ACAGATCCTTACGTGCTCTGA	0.463																																					GBM(168;452 2038 13535 17701 43680)											0													164	139	147					12																	117627030		2203	4300	6503	SO:0001630	splice_region_variant	23014			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.375+1T>C	12.37:g.117627030A>G			B3KMF0|Q5BJG0|Q9H087	Splice_Site	SNP	ENST00000330622.5	37	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184152	0.78677	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000550180;ENST00000535590;ENST00000330622	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5742	0.68235	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXO21	116111413	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.435000	0.73412	1.978000	0.57642	0.533000	0.62120	.		0.463	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624	Intron	G	117627030	A	G	117627030	5	3	487	1	0	0	0	0	0	0	1	0	5735	405	14	3	1553	3	FBXO21	12	117627030	Splice_Site	SNP	A	TCGA-CJ-4635-01A-02D-1373-10	5110527	117627030	16224865	33	26354											
FRY	10129	hgsc.bcm.edu;ucsc.edu	37	13	32798431	32798431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr13:32798431C>T	ENST00000380250.3	+	37	5321	c.4825C>T	c.(4825-4827)Cag>Tag	p.Q1609*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1609						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAGCAGCCGCAGCCCTTACC	0.567																																																0													66	70	69					13																	32798431		1893	4118	6011	SO:0001587	stop_gained	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4825C>T	13.37:g.32798431C>T	ENSP00000369600:p.Gln1609*		Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	49	15.503186	0.99836	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	.	.	.	5.44	5.44	0.79542	.	0.135786	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.2474	0.93908	0.0:1.0:0.0:0.0	.	.	.	.	X	1609;446	.	ENSP00000369600:Q1609X	Q	+	1	0	FRY	31696431	1.000000	0.71417	0.954000	0.39281	0.972000	0.66771	7.474000	0.81024	2.553000	0.86117	0.411000	0.27672	CAG		0.567	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		T	32798431	C	T	32798431	4	4	487	1	0	0	0	0	0	1	0	0	6065	711	25	2	4971	2	FRY	13	32798431	Nonsense_Mutation	SNP	C	TCGA-CJ-4635-01A-02D-1373-10		32798431	82371447	34	26355											
DCT	1638	hgsc.bcm.edu;ucsc.edu	37	13	95117927	95117927	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr13:95117927G>A	ENST00000377028.5	-	4	1236	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.R275W|AL139318.1_ENST00000390768.1_RNA	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	275					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CTTGAGTTCCGACTAATCAGA	0.498																																																0													117	100	106					13																	95117927		2203	4300	6503	SO:0001583	missense	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.823C>T	13.37:g.95117927G>A	ENSP00000366227:p.Arg275Trp		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965228	0.74131	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98313	-4.86;-4.86	5.95	4.2	0.49525	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.713875	0.14824	N	0.296247	D	0.97201	0.9085	L	0.34521	1.04	0.21627	N	0.99962	P;P	0.44734	0.754;0.842	P;B	0.49301	0.606;0.36	D	0.92603	0.6093	10	0.87932	D	0	-1.7275	16.2333	0.82358	0.0:0.3769:0.6231:0.0	.	275;275	Q09GT4;P40126	.;TYRP2_HUMAN	W	275	ENSP00000366227:R275W;ENSP00000392762:R275W	ENSP00000366227:R275W	R	-	1	2	DCT	93915928	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.004000	0.49513	0.827000	0.34685	0.655000	0.94253	CGG		0.498	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			A	95117927	G	A	95117927	3	1	487	1	0	0	0	0	1	0	0	0	4306	1057	37	1	863	1	DCT	13	95117927	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	62319496	95117927	20051951	35	26356											
ACTR10	55860	hgsc.bcm.edu;ucsc.edu	37	14	58701185	58701185	+	Silent	SNP	C	C	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr14:58701185C>T	ENST00000254286.4	+	13	1250	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	390					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						GGTGTTCTCTCAATAACCCAC	0.393																																																0													112	107	109					14																	58701185		2203	4300	6503	SO:0001819	synonymous_variant	55860			AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.1170C>T	14.37:g.58701185C>T			Q9H9Y5|Q9NWY2	Silent	SNP	ENST00000254286.4	37	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029809	0.19512	.	.	ENSG00000131966	ENST00000554642	.	.	.	5.78	2.67	0.31697	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1828	9.2211	0.37377	0.0:0.3084:0.5925:0.0991	.	.	.	.	X	122	.	.	Q	+	1	0	ACTR10	57770938	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	0.139000	0.16036	0.305000	0.22832	0.655000	0.94253	CAA		0.393	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			T	58701185	C	T	58701185	2	4	487	1	0	0	0	0	0	0	0	1	208	813	29	2		2	ACTR10	14	58701185	Silent	SNP	C	TCGA-CJ-4635-01A-02D-1373-10		58701185	48648355	36	26357											
DUOX2	50506	hgsc.bcm.edu	37	15	45387206	45387206	+	Silent	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr15:45387206G>A	ENST00000603300.1	-	32	4525	c.4323C>T	c.(4321-4323)caC>caT	p.H1441H	DUOX2_ENST00000389039.6_Silent_p.H1441H	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1441					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCAGGTCCTGGTGGTCGTTCT	0.577																																																0													115	98	104					15																	45387206		2198	4298	6496	SO:0001819	synonymous_variant	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4323C>T	15.37:g.45387206G>A			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	CCDS10117.1																																																																																				0.577	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		A	45387206	G	A	45387206	2	1	487	1	0	0	0	0	0	0	0	1	4803	1252	44	2		2	DUOX2	15	45387206	Silent	SNP	G	TCGA-CJ-4635-01A-02D-1373-10		45387206	57144186	37	26358											
ACAN	176	hgsc.bcm.edu	37	15	89398671	89398671	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr15:89398671G>A	ENST00000561243.1	+	11	2855	c.2855G>A	c.(2854-2856)gGg>gAg	p.G952E	ACAN_ENST00000439576.2_Missense_Mutation_p.G952E|ACAN_ENST00000352105.7_Missense_Mutation_p.G952E|ACAN_ENST00000559004.1_Missense_Mutation_p.G952E			P16112	PGCA_HUMAN	aggrecan	951	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCTGGAGTTGGGGATCTCAGT	0.552																																																0													77	82	81					15																	89398671		1859	4111	5970	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2855G>A	15.37:g.89398671G>A	ENSP00000453342:p.Gly952Glu		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.225151	0.01530	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.92699	-3.09;-3.09	4.49	-4.63	0.03359	.	.	.	.	.	T	0.67795	0.2931	N	0.01242	-0.935	0.09310	N	1	P;P	0.42827	0.791;0.791	B;B	0.40702	0.338;0.338	T	0.71925	-0.4445	9	0.02654	T	1	-0.1837	1.5117	0.02497	0.4953:0.1204:0.1943:0.1901	.	952;952	E7ENV9;E7EX88	.;.	E	952	ENSP00000387356:G952E;ENSP00000341615:G952E	ENSP00000268134:G952E	G	+	2	0	ACAN	87199675	0.000000	0.05858	0.021000	0.16686	0.161000	0.22273	-1.334000	0.02665	-0.378000	0.07918	-0.253000	0.11424	GGG		0.552	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89398671	G	A	89398671	3	1	487	1	0	0	0	0	1	0	0	0	117	1232	43	2	2897	2	ACAN	15	89398671	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	44011465	89398671	13132721	38	26359											
SRRM2	23524	hgsc.bcm.edu	37	16	2816400	2816400	+	Silent	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr16:2816400G>A	ENST00000301740.8	+	11	6420	c.5871G>A	c.(5869-5871)agG>agA	p.R1957R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1957	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCGCAGAAGGTCCAGATCCA	0.567																																																0													68	70	70					16																	2816400		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5871G>A	16.37:g.2816400G>A			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.567	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			A	2816400	G	A	2816400	2	1	487	1	0	0	0	0	0	0	0	1	15174	1252	44	2		2	SRRM2	16	2816400	Silent	SNP	G	TCGA-CJ-4635-01A-02D-1373-10		2816400	87538353	39	26360											
MT1X	4501	hgsc.bcm.edu	37	16	56717913	56717913	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr16:56717913G>T	ENST00000394485.4	+	3	255	c.138G>T	c.(136-138)caG>caT	p.Q46H	RP11-343H19.2_ENST00000567563.1_RNA	NM_005952.3	NP_005943.1	P80297	MT1X_HUMAN	metallothionein 1X	46	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to erythropoietin (GO:0036018)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)|response to metal ion (GO:0010038)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(2)	2						AGTGTGCCCAGGGCTGCATCT	0.567																																																0													196	197	196					16																	56717913		2198	4300	6498	SO:0001583	missense	4501			BC032338	CCDS10768.1	16q13	2010-10-20			ENSG00000187193	ENSG00000187193		"Metallothioneins"	7405	protein-coding gene	gene with protein product		156359		MT1		2286373, 8049263	Standard	NM_005952		Approved	MT-1l	uc002ejy.3	P80297	OTTHUMG00000133280	ENST00000394485.4:c.138G>T	16.37:g.56717913G>T	ENSP00000377995:p.Gln46His		A8MUC7	Missense_Mutation	SNP	ENST00000394485.4	37	CCDS10768.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756408	0.49362	.	.	ENSG00000187193	ENST00000394485	T	0.10477	2.87	4.22	3.25	0.37280	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	.	.	.	.	T	0.25791	0.0628	.	.	.	0.80722	D	1	D	0.61697	0.99	P	0.61658	0.892	T	0.01276	-1.1398	8	0.66056	D	0.02	.	9.8419	0.41004	0.1002:0.0:0.8998:0.0	.	46	P80297	MT1X_HUMAN	H	46	ENSP00000377995:Q46H	ENSP00000377995:Q46H	Q	+	3	2	MT1X	55275414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.825000	0.39081	1.114000	0.41781	0.561000	0.74099	CAG		0.567	MT1X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257060.1	NM_005952		T	56717913	G	T	56717913	3	4	487	1	0	0	0	0	1	0	0	0	9906	991	35	4	148	4	MT1X	16	56717913	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	53901513	56717913	33636840	40	26361											
ABCA5	23461	hgsc.bcm.edu	37	17	67266771	67266771	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr17:67266771T>C	ENST00000392676.3	-	22	3077	c.3013A>G	c.(3013-3015)Agt>Ggt	p.S1005G	ABCA5_ENST00000588877.1_Missense_Mutation_p.S1005G|ABCA5_ENST00000392677.2_Missense_Mutation_p.S1006G			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1005					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AATGGGGTACTCCAGATCTGG	0.274																																																0													123	139	134					17																	67266771		2203	4281	6484	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3013A>G	17.37:g.67266771T>C	ENSP00000376443:p.Ser1005Gly		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368150	0.61513	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.84298	-1.83;-1.83	5.45	5.45	0.79879	.	0.386874	0.27464	N	0.019257	D	0.85405	0.5689	M	0.65498	2.005	0.51482	D	0.999927	B	0.19200	0.034	B	0.33121	0.158	T	0.81291	-0.0999	9	.	.	.	.	14.4987	0.67707	0.0:0.0:0.0:1.0	.	1005	Q8WWZ7	ABCA5_HUMAN	G	1006;1005	ENSP00000376444:S1006G;ENSP00000376443:S1005G	.	S	-	1	0	ABCA5	64778366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.716000	0.68437	2.062000	0.61559	0.482000	0.46254	AGT		0.274	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		C	67266771	T	C	67266771	3	2	487	1	0	0	0	0	1	0	0	0	35	1551	54	3	1987	3	ABCA5	17	67266771	Missense_Mutation	SNP	T	TCGA-CJ-4635-01A-02D-1373-10		67266771	13928439	41	26362											
KCNJ16	3773	hgsc.bcm.edu;ucsc.edu	37	17	68128601	68128601	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr17:68128601T>C	ENST00000589377.1	+	2	536	c.373T>C	c.(373-375)Tcc>Ccc	p.S125P	KCNJ16_ENST00000392670.1_Missense_Mutation_p.S125P|KCNJ16_ENST00000585558.1_Missense_Mutation_p.S160P|KCNJ16_ENST00000392671.1_Missense_Mutation_p.S125P|KCNJ16_ENST00000283936.1_Missense_Mutation_p.S125P|KCNJ16_ENST00000586462.1_Missense_Mutation_p.S164P	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	125					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CTTTTTGTTCTCCCTAGAGAC	0.453																																																0													79	70	73					17																	68128601		2203	4300	6503	SO:0001583	missense	3773			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.373T>C	17.37:g.68128601T>C	ENSP00000465967:p.Ser125Pro			Missense_Mutation	SNP	ENST00000589377.1	37	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212101	0.58452	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.96830	-4.14;-4.14;-4.14	5.84	5.84	0.93424	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98541	0.9513	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99679	1.0998	9	.	.	.	.	15.8874	0.79261	0.0:0.0:0.0:1.0	.	125;125	A8K434;Q9NPI9	.;IRK16_HUMAN	P	125	ENSP00000283936:S125P;ENSP00000376439:S125P;ENSP00000376438:S125P	.	S	+	1	0	KCNJ16	65640196	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	6.117000	0.71577	2.230000	0.72887	0.528000	0.53228	TCC		0.453	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		C	68128601	T	C	68128601	3	2	487	1	0	0	0	0	1	0	0	0	8052	1551	54	3	375	3	KCNJ16	17	68128601	Missense_Mutation	SNP	T	TCGA-CJ-4635-01A-02D-1373-10	861830	68128601	13066609	42	26363											
UNK	85451	hgsc.bcm.edu	37	17	73818637	73818637	+	Silent	SNP	A	A	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr17:73818637A>T	ENST00000589666.1	+	14	2027	c.1917A>T	c.(1915-1917)ctA>ctT	p.L639L	RP11-552F3.4_ENST00000586808.1_RNA|UNK_ENST00000293218.3_Silent_p.L715L	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	639							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGCTTTCCTATCAGGGCCAG	0.612																																																0													64	73	70					17																	73818637		1948	4137	6085	SO:0001819	synonymous_variant	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1917A>T	17.37:g.73818637A>T				Silent	SNP	ENST00000589666.1	37	CCDS45778.2																																																																																				0.612	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		T	73818637	A	T	73818637	2	4	487	1	0	0	0	0	0	0	0	1	17005	436	16	5		5	UNK	17	73818637	Silent	SNP	A	TCGA-CJ-4635-01A-02D-1373-10	5690036	73818637	7376573	43	26364											
FN3KRP	79672	hgsc.bcm.edu;ucsc.edu	37	17	80680693	80680693	+	Silent	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr17:80680693G>A	ENST00000269373.6	+	4	472	c.399G>A	c.(397-399)ggG>ggA	p.G133G	FN3KRP_ENST00000535965.1_Silent_p.G83G	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	133							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GAGGAGGTGGGCAGGAGGAAC	0.537																																																0													199	168	178					17																	80680693		2203	4300	6503	SO:0001819	synonymous_variant	79672			AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.399G>A	17.37:g.80680693G>A			Q969F4|Q9H0U7	Silent	SNP	ENST00000269373.6	37	CCDS11817.1																																																																																				0.537	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		A	80680693	G	A	80680693	2	1	487	1	0	0	0	0	0	0	0	1	5966	1190	42	2		2	FN3KRP	17	80680693	Silent	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	6862056	80680693	514517	44	26365											
KIAA1012	22878	hgsc.bcm.edu	37	18	29437670	29437670	+	Silent	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr18:29437670G>A	ENST00000283351.4	-	20	3356	c.3021C>T	c.(3019-3021)ggC>ggT	p.G1007G	TRAPPC8_ENST00000582539.1_Silent_p.G953G	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1007					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACTTCCTGTGCCAATGCCAA	0.493																																																0													129	116	121					18																	29437670		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3021C>T	18.37:g.29437670G>A			A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	CCDS11901.1																																																																																				0.493	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		A	29437670	G	A	29437670	2	1	487	1	0	0	0	0	0	0	0	1	8206	1306	46	2		2	KIAA1012	18	29437670	Silent	SNP	G	TCGA-CJ-4635-01A-02D-1373-10		29437670	48639578	45	26366											
THEG	51298	hgsc.bcm.edu	37	19	362217	362217	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr19:362217G>C	ENST00000342640.4	-	8	1165	c.1123C>G	c.(1123-1125)Ccc>Gcc	p.P375A	THEG_ENST00000346878.2_Missense_Mutation_p.P351A	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	375					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGCCTGGGTTGATCACAC	0.562																																																0													169	167	168					19																	362217		2203	4300	6503	SO:0001583	missense	51298			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1123C>G	19.37:g.362217G>C	ENSP00000340088:p.Pro375Ala		A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	G	5.775	0.327383	0.10956	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.22539	1.95;2.08	1.73	1.73	0.24493	.	0.682088	0.13299	N	0.398413	T	0.04407	0.0121	N	0.01352	-0.895	0.09310	N	1	P;P	0.38110	0.618;0.618	B;B	0.31101	0.124;0.124	T	0.24440	-1.0160	10	0.05436	T	0.98	-26.5696	6.9747	0.24669	0.0:0.0:1.0:0.0	.	351;375	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	A	375;351	ENSP00000340088:P375A;ENSP00000264820:P351A	ENSP00000340088:P375A	P	-	1	0	THEG	313217	0.002000	0.14202	0.010000	0.14722	0.005000	0.04900	0.740000	0.26188	1.312000	0.45043	0.650000	0.86243	CCC		0.562	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			C	362217	G	C	362217	3	2	487	1	0	0	0	0	1	0	0	0	15862	1261	44	4	20	4	THEG	19	362217	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10		362217	58766766	46	26367											
C19orf53	28974	hgsc.bcm.edu	37	19	13885310	13885310	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr19:13885310A>G	ENST00000588234.1	+	1	329	c.19A>G	c.(19-21)Aag>Gag	p.K7E	CTB-5E10.3_ENST00000586297.1_RNA|CTB-5E10.3_ENST00000586894.1_RNA|CTB-5E10.3_ENST00000591826.1_RNA|C19orf53_ENST00000593274.1_5'Flank	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	7										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			GGGGCAGCGCAAGTTTCAGGC	0.642																																																0													16	19	18					19																	13885310		2198	4294	6492	SO:0001583	missense	28974			AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"leydig cell tumor 10 kDa protein homolog"					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.19A>G	19.37:g.13885310A>G	ENSP00000465432:p.Lys7Glu		B2R4J9	Missense_Mutation	SNP	ENST00000588234.1	37	CCDS12298.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443951	0.83993	.	.	ENSG00000104979	ENST00000221576	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.80276	-0.1450	8	0.87932	D	0	.	11.1405	0.48400	1.0:0.0:0.0:0.0	.	7	Q9UNZ5	L10K_HUMAN	E	7	.	ENSP00000221576:K7E	K	+	1	0	C19orf53	13746310	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	4.680000	0.61656	2.135000	0.66039	0.449000	0.29647	AAG		0.642	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		G	13885310	A	G	13885310	3	3	487	1	0	0	0	0	1	0	0	0	1937	131	5	3	21	3	C19orf53	19	13885310	Missense_Mutation	SNP	A	TCGA-CJ-4635-01A-02D-1373-10	13523093	13885310	45243673	47	26368											
ARHGAP33	115703	hgsc.bcm.edu	37	19	36273301	36273301	+	Missense_Mutation	SNP	C	C	A	rs150993015		TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr19:36273301C>A	ENST00000007510.4	+	13	1256	c.1112C>A	c.(1111-1113)cCg>cAg	p.P371Q	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P371Q|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P235Q			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	371	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GAGAGGATCCCGGAGCTGTCT	0.607																																																0													118	103	108					19																	36273301		2203	4300	6503	SO:0001583	missense	115703			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1112C>A	19.37:g.36273301C>A	ENSP00000007510:p.Pro371Gln		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	c	15.68	2.906304	0.52333	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.11712	2.75;2.75;2.75	5.3	4.26	0.50523	.	0.064424	0.64402	D	0.000008	T	0.41213	0.1149	M	0.91354	3.2	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.54316	-0.8312	10	0.72032	D	0.01	.	14.4028	0.67060	0.1488:0.8512:0.0:0.0	.	235;371	O14559-10;O14559-11	.;.	Q	371;371;235	ENSP00000007510:P371Q;ENSP00000320038:P371Q;ENSP00000368227:P235Q	ENSP00000007510:P371Q	P	+	2	0	ARHGAP33	40965141	1.000000	0.71417	0.932000	0.37286	0.061000	0.15899	7.658000	0.83755	1.233000	0.43693	0.457000	0.33378	CCG		0.607	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		A	36273301	C	A	36273301	3	1	487	1	0	0	0	0	1	0	0	0	882	652	23	4	1162	4	ARHGAP33	19	36273301	Missense_Mutation	SNP	C	TCGA-CJ-4635-01A-02D-1373-10	22387991	36273301	22855682	48	26369											
DHX34	9704	hgsc.bcm.edu	37	19	47861187	47861187	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr19:47861187C>T	ENST00000328771.4	+	4	1431	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	361					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GACCCGCGGCCTTTCCTGAGG	0.642																																																0													54	43	47					19																	47861187		2203	4300	6503	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1082C>T	19.37:g.47861187C>T	ENSP00000331907:p.Pro361Leu		B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.909373	0.52439	.	.	ENSG00000134815	ENST00000328771	T	0.02944	4.1	4.88	3.84	0.44239	.	0.096980	0.43747	D	0.000538	T	0.08935	0.0221	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.09228	-1.0684	10	0.87932	D	0	-0.3797	13.5046	0.61477	0.1579:0.8421:0.0:0.0	.	361	Q14147	DHX34_HUMAN	L	361	ENSP00000331907:P361L	ENSP00000331907:P361L	P	+	2	0	DHX34	52553025	1.000000	0.71417	0.973000	0.42090	0.016000	0.09150	7.132000	0.77251	1.246000	0.43901	-0.188000	0.12872	CCT		0.642	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		T	47861187	C	T	47861187	3	4	487	1	0	0	0	0	1	0	0	0	4509	681	24	2	1092	2	DHX34	19	47861187	Missense_Mutation	SNP	C	TCGA-CJ-4635-01A-02D-1373-10	11587886	47861187	11267796	49	26370											
OVOL2	58495	hgsc.bcm.edu;ucsc.edu	37	20	18005499	18005499	+	Silent	SNP	C	C	T			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr20:18005499C>T	ENST00000278780.6	-	4	851	c.609G>A	c.(607-609)caG>caA	p.Q203Q	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	203					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TATAGGCATACTGCTGCTGCA	0.582																																																0													89	83	85					20																	18005499		2203	4300	6503	SO:0001819	synonymous_variant	58495			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"Zinc fingers, C2H2-type"	15804	protein-coding gene	gene with protein product			"zinc finger protein 339", "ovo-like 2 (Drosophila)"	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.609G>A	20.37:g.18005499C>T			Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Silent	SNP	ENST00000278780.6	37	CCDS13132.1																																																																																				0.582	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220		T	18005499	C	T	18005499	2	4	487	1	0	0	0	0	0	0	0	1	11329	564	20	2		2	OVOL2	20	18005499	Silent	SNP	C	TCGA-CJ-4635-01A-02D-1373-10		18005499	45020021	50	26371											
C20orf152	140894	hgsc.bcm.edu;ucsc.edu	37	20	34611538	34611538	+	Silent	SNP	C	C	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr20:34611538C>A	ENST00000373973.3	+	11	1457	c.1284C>A	c.(1282-1284)gcC>gcA	p.A428A	CNBD2_ENST00000538900.1_Intron|CNBD2_ENST00000349339.1_Silent_p.A424A			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	428																	TTCACCAGGCCTTCCTTCCAG	0.443																																																0													84	83	83					20																	34611538		2203	4300	6503	SO:0001819	synonymous_variant	0			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1284C>A	20.37:g.34611538C>A			Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37																																																																																					0.443	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		A	34611538	C	A	34611538	2	1	487	1	0	0	0	0	0	0	0	1	2094	668	24	4		4	C20orf152	20	34611538	Silent	SNP	C	TCGA-CJ-4635-01A-02D-1373-10	16606039	34611538	28413982	51	26372											
PCIF1	63935	hgsc.bcm.edu	37	20	44571762	44571762	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr20:44571762A>G	ENST00000372409.3	+	8	1064	c.700A>G	c.(700-702)Aac>Gac	p.N234D		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	234					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GGAGTCTTTCAACCGCTGGAT	0.537																																																0													61	50	54					20																	44571762		2203	4300	6503	SO:0001583	missense	63935			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.700A>G	20.37:g.44571762A>G	ENSP00000361486:p.Asn234Asp		E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555803	0.86231	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	T	0.80892	-0.1179	9	0.66056	D	0.02	-31.2663	14.0642	0.64819	1.0:0.0:0.0:0.0	.	234	Q9H4Z3	PCIF1_HUMAN	D	234	.	ENSP00000361486:N234D	N	+	1	0	PCIF1	44005169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.009000	0.93606	2.107000	0.64212	0.533000	0.62120	AAC		0.537	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		G	44571762	A	G	44571762	3	3	487	1	0	0	0	0	1	0	0	0	11582	130	5	3	722	3	PCIF1	20	44571762	Missense_Mutation	SNP	A	TCGA-CJ-4635-01A-02D-1373-10	9960224	44571762	18453758	52	26373											
BMP7	655	hgsc.bcm.edu	37	20	55758892	55758892	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr20:55758892T>G	ENST00000395863.3	-	4	1349	c.844A>C	c.(844-846)Aag>Cag	p.K282Q	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Missense_Mutation_p.K282Q|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	282					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TCCGTGGCCTTGAAGAAAGCC	0.637																																																0													56	52	53					20																	55758892		2203	4300	6503	SO:0001583	missense	655				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.844A>C	20.37:g.55758892T>G	ENSP00000379204:p.Lys282Gln		Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.987288|3.987288	0.74589|0.74589	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000395863;ENST00000450594|ENST00000433911	T;T|.	0.81415|.	-1.01;-1.49|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63850|0.63850	0.2546|0.2546	L|L	0.49126|0.49126	1.545|1.545	0.58432|0.58432	D|D	0.999993|0.999993	B;D|.	0.76494|.	0.105;0.999|.	B;D|.	0.72982|.	0.094;0.979|.	T|T	0.61426|0.61426	-0.7065|-0.7065	10|5	0.46703|.	T|.	0.11|.	.|.	15.5714|15.5714	0.76341|0.76341	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	282;282|.	P18075;B1AL00|.	BMP7_HUMAN;.|.	Q|P	282|203	ENSP00000379204:K282Q;ENSP00000398687:K282Q|.	ENSP00000379204:K282Q|.	K|Q	-|-	1|2	0|0	BMP7|BMP7	55192299|55192299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.032000|6.032000	0.70918|0.70918	2.069000|2.069000	0.61940|0.61940	0.523000|0.523000	0.50628|0.50628	AAG|CAA		0.637	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			G	55758892	T	G	55758892	3	3	487	1	0	0	0	0	1	0	0	0	1465	1821	63	5	467	5	BMP7	20	55758892	Missense_Mutation	SNP	T	TCGA-CJ-4635-01A-02D-1373-10	11187130	55758892	7266628	53	26374											
DIDO1	11083	hgsc.bcm.edu;ucsc.edu	37	20	61537212	61537212	+	Intron	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr20:61537212G>A	ENST00000266070.4	-	6	1914				DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000370368.1_Silent_p.L539L|DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000395340.1_Intron|DIDO1_ENST00000370371.4_Silent_p.L539L|DIDO1_ENST00000354665.4_Silent_p.L539L|DIDO1_ENST00000370366.1_Intron|DIDO1_ENST00000266071.5_Intron	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1						apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAGGGGTCCAGGAGGCCAACC	0.537																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0													122	116	118					20																	61537212		2203	4300	6503	SO:0001627	intron_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1588+26C>T	20.37:g.61537212G>A			A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																				0.537	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		A	61537212	G	A	61537212	1	1	487	0	1	0	0	0	0	0	0	0	4524	991	35	2		2	DIDO1	20	61537212	Intron	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	5778320	61537212	1488308	54	26375											
BRWD1	54014	hgsc.bcm.edu	37	21	40649200	40649200	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr21:40649200T>G	ENST00000333229.2	-	11	1408	c.1081A>C	c.(1081-1083)Atc>Ctc	p.I361L	BRWD1_ENST00000342449.3_Missense_Mutation_p.I361L|BRWD1_ENST00000380800.3_Missense_Mutation_p.I361L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	361					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGTTCTGCGATTTTTTCGGGT	0.343																																					Melanoma(170;988 1986 4794 16843 39731)											0													86	83	84					21																	40649200		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1081A>C	21.37:g.40649200T>G	ENSP00000330753:p.Ile361Leu		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.28|14.28	2.487826|2.487826	0.44249|0.44249	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.57595|.	0.39;0.39;0.39|.	4.71|4.71	4.71|4.71	0.59529|0.59529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.086880|.	0.47852|.	D|.	0.000217|.	T|T	0.50939|0.50939	0.1645|0.1645	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28667|.	0.031;0.207;0.219|.	B;B;B|.	0.36567|.	0.038;0.219;0.228|.	T|T	0.46735|0.46735	-0.9170|-0.9170	10|5	0.49607|.	T|.	0.09|.	-5.3484|-5.3484	10.6408|10.6408	0.45592|0.45592	0.0:0.0:0.1607:0.8393|0.0:0.0:0.1607:0.8393	.|.	72;361;361|.	Q5R2U6;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	L|T	361|72	ENSP00000330753:I361L;ENSP00000344333:I361L;ENSP00000370178:I361L|.	ENSP00000330753:I361L|.	I|N	-|-	1|2	0|0	BRWD1|BRWD1	39571070|39571070	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	1.654000|1.654000	0.37334|0.37334	1.878000|1.878000	0.54408|0.54408	0.482000|0.482000	0.46254|0.46254	ATC|AAT		0.343	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		G	40649200	T	G	40649200	3	3	487	1	0	0	0	0	1	0	0	0	1527	1493	52	5	6248	5	BRWD1	21	40649200	Missense_Mutation	SNP	T	TCGA-CJ-4635-01A-02D-1373-10		40649200	7480695	55	26376											
PRODH	5625	hgsc.bcm.edu	37	22	18904467	18904467	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr22:18904467T>C	ENST00000357068.6	-	12	1727	c.1462A>G	c.(1462-1464)Aac>Gac	p.N488D	PRODH_ENST00000334029.2_Missense_Mutation_p.N380D|PRODH_ENST00000420436.1_Missense_Mutation_p.N380D	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	488			N -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GCCTTGGCGTTGTGCTTCAGC	0.607																																																0													140	91	108					22																	18904467		2203	4300	6503	SO:0001583	missense	5625			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.1462A>G	22.37:g.18904467T>C	ENSP00000349577:p.Asn488Asp		A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	CCDS13754.1	.	.	.	.	.	.	.	.	.	.	t	7.515	0.655470	0.14580	.	.	ENSG00000100033	ENST00000357068;ENST00000313755	T	0.33216	1.42	4.43	3.31	0.37934	Proline dehydrogenase (1);	0.188793	0.56097	D	0.000027	T	0.24198	0.0586	L	0.49256	1.55	0.31145	N	0.70616	B;B;B	0.20164	0.008;0.042;0.01	B;B;B	0.22152	0.015;0.038;0.026	T	0.16719	-1.0393	10	0.11182	T	0.66	-31.2949	9.8902	0.41285	0.0:0.0:0.1699:0.8301	.	404;488;380	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	D	488;133	ENSP00000349577:N488D	ENSP00000318329:N133D	N	-	1	0	PRODH	17284467	1.000000	0.71417	0.956000	0.39512	0.604000	0.37047	2.972000	0.49256	1.792000	0.52537	0.402000	0.26972	AAC		0.607	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		C	18904467	T	C	18904467	3	2	487	1	0	0	0	0	1	0	0	0	12553	1812	63	3	352	3	PRODH	22	18904467	Missense_Mutation	SNP	T	TCGA-CJ-4635-01A-02D-1373-10		18904467	32400099	56	26377											
SGSM1	129049	hgsc.bcm.edu	37	22	25282669	25282669	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chr22:25282669G>C	ENST00000400359.4	+	17	1916	c.1909G>C	c.(1909-1911)Ggg>Cgg	p.G637R	SGSM1_ENST00000400358.4_Missense_Mutation_p.G582R	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	637	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTACCAGTTCGGGATGACGGA	0.592																																																0													24	23	23					22																	25282669		1964	4151	6115	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1909G>C	22.37:g.25282669G>C	ENSP00000383212:p.Gly637Arg		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109264	0.94292	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.04049	3.72;3.72	5.85	5.85	0.93711	Rab-GAP/TBC domain (2);	0.044581	0.85682	D	0.000000	T	0.21427	0.0516	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.978;0.99;1.0	T	0.00003	-1.2602	10	0.72032	D	0.01	-20.7051	19.5349	0.95247	0.0:0.0:1.0:0.0	.	582;698;715;637	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	R	698;582;637	ENSP00000383211:G582R;ENSP00000383212:G637R	ENSP00000383211:G582R	G	+	1	0	SGSM1	23612669	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.294000	0.72738	2.941000	0.99782	0.655000	0.94253	GGG		0.592	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		C	25282669	G	C	25282669	3	2	487	1	0	0	0	0	1	0	0	0	14228	1116	39	4	1975	4	SGSM1	22	25282669	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	6378202	25282669	26021897	57	26378											
MAGEB2	4113	hgsc.bcm.edu	37	X	30236765	30236765	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chrX:30236765G>A	ENST00000378988.4	+	2	169	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	23										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GATGAGACCCGGGGTCTCAAT	0.567																																																0													37	35	36					X																	30236765		2202	4300	6502	SO:0001583	missense	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.68G>A	X.37:g.30236765G>A	ENSP00000368273:p.Arg23Gln		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	A	0.186	-1.057326	0.01965	.	.	ENSG00000099399	ENST00000378988	T	0.02974	4.09	3.43	0.959	0.19624	Melanoma associated antigen, MAGE, N-terminal (1);	0.653207	0.14428	N	0.320189	T	0.00468	0.0015	N	0.00036	-2.535	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43766	-0.9371	10	0.02654	T	1	.	3.0051	0.06026	0.5076:0.2281:0.2643:0.0	.	23	O15479	MAGB2_HUMAN	Q	23	ENSP00000368273:R23Q	ENSP00000368273:R23Q	R	+	2	0	MAGEB2	30146686	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.065000	0.11617	-0.166000	0.10890	-1.641000	0.00772	CGG		0.567	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		A	30236765	G	A	30236765	3	1	487	1	0	0	0	0	1	0	0	0	9178	1116	39	1	70	1	MAGEB2	23	30236765	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10		30236765	125033795	58	26379											
DRP2	1821	hgsc.bcm.edu	37	X	100509876	100509876	+	Missense_Mutation	SNP	G	G	A	rs201156733		TCGA-CJ-4635-01A-02D-1373-10	TCGA-CJ-4635-11B-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2504b5cf-c2ff-4d30-8b3f-27e43f862e17	d095c7c8-99bf-4b02-ba05-ace6938b7fa6	g.chrX:100509876G>A	ENST00000395209.3	+	19	2670	c.2143G>A	c.(2143-2145)Gcc>Acc	p.A715T	DRP2_ENST00000538510.1_Missense_Mutation_p.A715T|DRP2_ENST00000402866.1_Missense_Mutation_p.A715T|DRP2_ENST00000541709.1_Missense_Mutation_p.A637T	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	715					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTGGCCACACGCCGACACACA	0.582																																																0													124	100	108					X																	100509876		2203	4300	6503	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2143G>A	X.37:g.100509876G>A	ENSP00000378635:p.Ala715Thr		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526424	0.27299	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.82	3.88	0.44766	.	0.173376	0.49916	D	0.000128	D	0.86297	0.5899	M	0.65975	2.015	0.50813	D	0.999893	B	0.31837	0.342	B	0.26202	0.067	D	0.85983	0.1484	10	0.40728	T	0.16	-7.7831	14.2835	0.66228	0.0:0.0:0.8404:0.1596	.	715	Q13474	DRP2_HUMAN	T	715;715;637;715	ENSP00000385038:A715T;ENSP00000378635:A715T;ENSP00000444752:A637T;ENSP00000441051:A715T	ENSP00000378635:A715T	A	+	1	0	DRP2	100396532	1.000000	0.71417	0.888000	0.34837	0.416000	0.31233	7.579000	0.82511	2.215000	0.71742	0.600000	0.82982	GCC		0.582	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		A	100509876	G	A	100509876	3	1	487	1	0	0	0	0	1	0	0	0	4766	1087	38	1	2209	1	DRP2	23	100509876	Missense_Mutation	SNP	G	TCGA-CJ-4635-01A-02D-1373-10	70273111	100509876	54760684	59	26380											
CNKSR1	10256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26513674	26513674	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr1:26513674G>A	ENST00000374253.5	+	15	1384	c.1345G>A	c.(1345-1347)Ggc>Agc	p.G449S	CNKSR1_ENST00000361530.6_Missense_Mutation_p.G442S|CNKSR1_ENST00000531191.1_Missense_Mutation_p.G184S	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	449	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGCTGAGGGCCTCATCAA	0.532																																					NSCLC(180;1396 2109 28270 30756 34275)											0													90	96	94					1																	26513674		2203	4300	6503	SO:0001583	missense	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1345G>A	1.37:g.26513674G>A	ENSP00000363371:p.Gly449Ser		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37		.	.	.	.	.	.	.	.	.	.	G	33	5.240556	0.95240	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.20598	2.06;2.06;2.06	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	M	0.82193	2.58	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64237	0.923;0.923	T	0.56062	-0.8041	10	0.87932	D	0	-26.1337	19.5245	0.95199	0.0:0.0:1.0:0.0	.	449;442	Q969H4;Q53GM7	CNKR1_HUMAN;.	S	442;449;184	ENSP00000354609:G442S;ENSP00000363371:G449S;ENSP00000431817:G184S	ENSP00000354609:G442S	G	+	1	0	CNKSR1	26386261	1.000000	0.71417	0.989000	0.46669	0.979000	0.70002	8.595000	0.90840	2.608000	0.88229	0.655000	0.94253	GGC		0.532	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		A	26513674	G	A	26513674	3	1	488	1	0	0	0	0	1	0	0	0	3608	1232	43	2	1382	2	CNKSR1	1	26513674	Missense_Mutation	SNP	G	TCGA-CJ-4636-01A-02D-1386-10		26513674	222736947	1	26381											
SLC44A5	204962	broad.mit.edu;ucsc.edu	37	1	75681492	75681492	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr1:75681492A>G	ENST00000370855.5	-	19	1788	c.1675T>C	c.(1675-1677)Ttc>Ctc	p.F559L	SLC44A5_ENST00000535611.1_Missense_Mutation_p.F429L|SLC44A5_ENST00000370859.3_Missense_Mutation_p.F559L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	559					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAACACCAGAAGCAGCATCTC	0.338																																																0													77	80	79					1																	75681492		2203	4300	6503	SO:0001583	missense	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1675T>C	1.37:g.75681492A>G	ENSP00000359892:p.Phe559Leu		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.470619	0.63625	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.19806	2.12;2.12;2.12	5.4	4.26	0.50523	.	0.146747	0.64402	D	0.000007	T	0.10423	0.0255	L	0.41492	1.28	0.80722	D	1	P;P;P;P;P	0.41214	0.554;0.554;0.742;0.498;0.498	P;B;P;B;B	0.48400	0.498;0.371;0.576;0.44;0.44	T	0.02617	-1.1133	10	0.05721	T	0.95	-17.7661	11.8509	0.52412	0.9279:0.0:0.0721:0.0	.	553;598;559;559;598	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	L	559;598;559;429;552	ENSP00000359896:F559L;ENSP00000359892:F559L;ENSP00000443090:F429L	ENSP00000359892:F559L	F	-	1	0	SLC44A5	75454080	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.259000	0.72494	2.171000	0.68590	0.528000	0.53228	TTC		0.338	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		G	75681492	A	G	75681492	3	3	488	1	0	0	0	0	1	0	0	0	14645	72	3	3	619	3	SLC44A5	1	75681492	Missense_Mutation	SNP	A	TCGA-CJ-4636-01A-02D-1386-10	49167818	75681492	173569129	2	26382											
DENND2D	79961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111741341	111741341	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr1:111741341C>A	ENST00000357640.4	-	3	496	c.267G>T	c.(265-267)caG>caT	p.Q89H	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.Q86H|CHI3L2_ENST00000445067.2_5'Flank	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	89	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CCTCCTCCTGCTGACCCCGAA	0.552																																																0													64	62	63					1																	111741341		2203	4300	6503	SO:0001583	missense	79961				CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.267G>T	1.37:g.111741341C>A	ENSP00000350266:p.Gln89His		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	CCDS831.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276005	0.59649	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.15603	2.41;2.42	5.93	-2.63	0.06133	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	M	0.72479	2.2	0.34747	D	0.731369	D;D	0.71674	0.998;0.998	D;D	0.71656	0.957;0.974	T	0.15093	-1.0449	10	0.29301	T	0.29	-17.7514	17.3921	0.87435	0.0:0.8277:0.0:0.1723	.	86;89	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	H	89;86	ENSP00000350266:Q89H;ENSP00000358767:Q86H	ENSP00000350266:Q89H	Q	-	3	2	DENND2D	111542864	0.973000	0.33851	0.951000	0.38953	0.987000	0.75469	0.149000	0.16243	-0.448000	0.07128	0.655000	0.94253	CAG		0.552	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		A	111741341	C	A	111741341	3	1	488	1	0	0	0	0	1	0	0	0	4433	796	28	4	1188	4	DENND2D	1	111741341	Missense_Mutation	SNP	C	TCGA-CJ-4636-01A-02D-1386-10	36059849	111741341	137509280	3	26383											
WDR77	79084	broad.mit.edu;hgsc.bcm.edu	37	1	111989749	111989749	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr1:111989749A>C	ENST00000235090.5	-	4	667	c.461T>G	c.(460-462)cTt>cGt	p.L154R	WDR77_ENST00000411751.2_Intron|Y_RNA_ENST00000363020.1_RNA|ATP5F1_ENST00000369722.3_5'Flank|WDR77_ENST00000497278.1_5'UTR|ATP5F1_ENST00000483994.1_5'Flank	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	154					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCTGAGCAAGGTCCCAAAC	0.383																																																0													146	136	139					1																	111989749		2203	4300	6503	SO:0001583	missense	79084			BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"WD repeat domain containing"	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.461T>G	1.37:g.111989749A>C	ENSP00000235090:p.Leu154Arg		B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	37	CCDS835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.390082|4.390082	0.82902|0.82902	.|.	.|.	ENSG00000116455|ENSG00000116455	ENST00000235090|ENST00000449340	T|T	0.36878|0.33654	1.23|1.4	5.67|5.67	5.67|5.67	0.87782|0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);|.	0.126311|0.126311	0.53938|0.53938	D|D	0.000054|0.000054	T|T	0.32164|0.32164	0.0820|0.0820	L|L	0.60957|0.60957	1.885|1.885	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74674|.	0.984|.	T|T	0.10132|0.10132	-1.0643|-1.0643	10|8	0.27082|0.14656	T|T	0.32|0.56	-14.3657|-14.3657	15.5761|15.5761	0.76387|0.76387	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	154|.	Q9BQA1|.	MEP50_HUMAN|.	R|V	154|91	ENSP00000235090:L154R|ENSP00000409300:L91V	ENSP00000235090:L154R|ENSP00000409300:L91V	L|L	-|-	2|1	0|2	WDR77|WDR77	111791272|111791272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	7.057000|7.057000	0.76669|0.76669	2.172000|2.172000	0.68678|0.68678	0.379000|0.379000	0.24179|0.24179	CTT|TTG		0.383	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		C	111989749	A	C	111989749	3	2	488	1	0	0	0	0	1	0	0	0	17332	72	3	5	595	5	WDR77	1	111989749	Missense_Mutation	SNP	A	TCGA-CJ-4636-01A-02D-1386-10	248408	111989749	137260872	4	26384											
KIFAP3	22920	hgsc.bcm.edu;ucsc.edu	37	1	170003574	170003574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr1:170003574delA	ENST00000361580.2	-	7	908	c.681delT	c.(679-681)attfs	p.I227fs	KIFAP3_ENST00000490550.1_5'Flank|KIFAP3_ENST00000367767.1_Frame_Shift_Del_p.I183fs|KIFAP3_ENST00000538366.1_Frame_Shift_Del_p.I149fs|KIFAP3_ENST00000367765.1_Frame_Shift_Del_p.I187fs	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	227					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTCATGATCAATAATATTCA	0.303																																																0													86	85	85					1																	170003574		2202	4300	6502	SO:0001589	frameshift_variant	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.681delT	1.37:g.170003574delA	ENSP00000354560:p.Ile227fs		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Frame_Shift_Del	DEL	ENST00000361580.2	37	CCDS1288.1																																																																																				0.303	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		-	170003574	A	-	170003574	7	5	488	1	0	1	0	1	0	0	0	0	8313	126	5	0	1753	0	KIFAP3	1	170003574	Frame_Shift_Del	DEL	A	TCGA-CJ-4636-01A-02D-1386-10	58013825	170003574	79247047	5	26385											
CFHR2	3080	hgsc.bcm.edu;ucsc.edu	37	1	196918739	196918739	+	Silent	SNP	G	G	A	rs61746417	byFrequency	TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr1:196918739G>A	ENST00000367415.5	+	2	313	c.213G>A	c.(211-213)acG>acA	p.T71T	CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000367421.3_Silent_p.T71T|CFHR2_ENST00000476712.2_Silent_p.T71T	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	71	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CTCGCATAACGTGCGCAGAAG	0.398													g|||	165	0.0329473	0.121	0.0072	5008	,	,		18621	0.0		0.0	False		,,,				2504	0.0															0								A		471,3935		26,419,1758	101	88	92		213	-6.7	0	1	dbSNP_129	92	15,8585		0,15,4285	no	coding-synonymous	CFHR2	NM_005666.2		26,434,6043	AA,AG,GG		0.1744,10.69,3.7367		71/271	196918739	486,12520	2203	4300	6503	SO:0001819	synonymous_variant	3080			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.213G>A	1.37:g.196918739G>A			Q14310|Q5T9T1	Silent	SNP	ENST00000367415.5	37	CCDS30959.1																																																																																				0.398	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		A	196918739	G	A	196918739	2	1	488	1	0	0	0	0	0	0	0	1	3287	1132	40	1		1	CFHR2	1	196918739	Silent	SNP	G	TCGA-CJ-4636-01A-02D-1386-10	26915165	196918739	52331882	6	26386											
IL19	29949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207014376	207014376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr1:207014376C>T	ENST00000270218.6	+	6	1330	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	IL19_ENST00000340758.2_Nonsense_Mutation_p.Q169*	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	131					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCACTGCAGGCAGGAAGCCAC	0.522																																																0													122	92	102					1																	207014376		2203	4300	6503	SO:0001587	stop_gained	29949			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"Interleukins and interleukin receptors"	5990	protein-coding gene	gene with protein product	"melanoma differentiation associated protein-like protein"	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.391C>T	1.37:g.207014376C>T	ENSP00000270218:p.Gln131*		B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Nonsense_Mutation	SNP	ENST00000270218.6	37	CCDS1469.1	.	.	.	.	.	.	.	.	.	.	C	43	10.372598	0.99393	.	.	ENSG00000142224	ENST00000340758;ENST00000270218	.	.	.	5.71	0.398	0.16319	.	0.569373	0.19426	N	0.114573	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	12.681	0.56922	0.1036:0.1947:0.7017:0.0	.	.	.	.	X	169;131	.	ENSP00000270218:Q131X	Q	+	1	0	IL19	205080999	0.625000	0.27111	0.955000	0.39395	0.909000	0.53808	0.119000	0.15626	0.030000	0.15379	0.591000	0.81541	CAG		0.522	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		T	207014376	C	T	207014376	4	4	488	1	0	0	0	0	0	1	0	0	7651	711	25	2	523	2	IL19	1	207014376	Nonsense_Mutation	SNP	C	TCGA-CJ-4636-01A-02D-1386-10	10095637	207014376	42236245	7	26387											
CAPN9	10753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	230910375	230910375	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr1:230910375C>A	ENST00000271971.2	+	8	1064	c.951C>A	c.(949-951)ttC>ttA	p.F317L	RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000354537.1_Intron|CAPN9_ENST00000366666.2_Missense_Mutation_p.F254L|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	317	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATGGGGAATTCTGGTACCGTG	0.512																																																0													199	160	173					1																	230910375		2203	4300	6503	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.951C>A	1.37:g.230910375C>A	ENSP00000271971:p.Phe317Leu		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852237	0.91355	.	.	ENSG00000135773	ENST00000271971;ENST00000366666	T;T	0.35048	1.33;1.33	4.88	4.88	0.63580	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.75354	0.3838	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86109	0.1561	10	0.87932	D	0	.	18.027	0.89272	0.0:1.0:0.0:0.0	.	254;317	E7ESS6;O14815	.;CAN9_HUMAN	L	317;254	ENSP00000271971:F317L;ENSP00000355626:F254L	ENSP00000271971:F317L	F	+	3	2	CAPN9	228976998	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	3.207000	0.51106	2.260000	0.74910	0.455000	0.32223	TTC		0.512	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		A	230910375	C	A	230910375	3	1	488	1	0	0	0	0	1	0	0	0	2634	912	32	4	981	4	CAPN9	1	230910375	Missense_Mutation	SNP	C	TCGA-CJ-4636-01A-02D-1386-10	23895999	230910375	18340246	8	26388											
DTNB	1838	broad.mit.edu;ucsc.edu	37	2	25754451	25754451	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr2:25754451T>A	ENST00000406818.3	-	9	1141	c.892A>T	c.(892-894)Aag>Tag	p.K298*	DTNB_ENST00000407661.3_Nonsense_Mutation_p.K298*|DTNB_ENST00000407038.3_Nonsense_Mutation_p.K298*|DTNB_ENST00000496972.2_Nonsense_Mutation_p.K241*|DTNB_ENST00000405222.1_Nonsense_Mutation_p.K298*|DTNB_ENST00000404103.3_Nonsense_Mutation_p.K298*|DTNB_ENST00000545439.1_Nonsense_Mutation_p.K94*|DTNB_ENST00000407186.1_Nonsense_Mutation_p.K298*|DTNB_ENST00000288642.8_Nonsense_Mutation_p.K298*	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	298						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCTCAGCTTCTTTGCAGGA	0.408																																																0													86	86	86					2																	25754451		1860	4094	5954	SO:0001587	stop_gained	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.892A>T	2.37:g.25754451T>A	ENSP00000384084:p.Lys298*		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Nonsense_Mutation	SNP	ENST00000406818.3	37	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	T	40	8.352880	0.98774	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	.	.	.	5.15	5.15	0.70609	.	0.136039	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-25.2419	12.9424	0.58352	0.0:0.0:0.0:1.0	.	.	.	.	X	241;298;298;298;298;298;298;298;94;151	.	ENSP00000288642:K298X	K	-	1	0	DTNB	25607955	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.890000	0.87313	1.930000	0.55929	0.383000	0.25322	AAG		0.408	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		A	25754451	T	A	25754451	4	1	488	1	0	0	0	0	0	1	0	0	4791	1792	62	5	1039	5	DTNB	2	25754451	Nonsense_Mutation	SNP	T	TCGA-CJ-4636-01A-02D-1386-10		25754451	217444922	9	26389											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191513	10191513	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr3:10191513T>C	ENST00000256474.2	+	3	1346	c.506T>C	c.(505-507)cTa>cCa	p.L169P	VHL_ENST00000345392.2_Missense_Mutation_p.L128P|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	169					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L169P(11)|p.L169fs*33(2)|p.S168fs*3(1)|p.V170fs*31(1)|p.L169_V170del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCCGGAGCCTAGTCAAGCCT	0.517		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	16	Substitution - Missense(11)|Deletion - Frameshift(4)|Deletion - In frame(1)	kidney(16)	GRCh37	CM003060	VHL	M							95	86	89					3																	10191513		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.506T>C	3.37:g.10191513T>C	ENSP00000256474:p.Leu169Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.866443	0.72065	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99856	-7.21;-7.21	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000004	D	0.99782	0.9909	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96607	0.9449	10	0.87932	D	0	-8.7798	12.7224	0.57149	0.0:0.0:0.0:1.0	.	128;169	P40337-2;P40337	.;VHL_HUMAN	P	169;128;87	ENSP00000256474:L169P;ENSP00000344757:L128P	ENSP00000256474:L169P	L	+	2	0	VHL	10166513	1.000000	0.71417	0.937000	0.37676	0.716000	0.41182	5.790000	0.69038	2.162000	0.67917	0.533000	0.62120	CTA		0.517	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10191513	T	C	10191513	3	2	488	1	0	0	0	0	1	0	0	0	17167	1522	53	3	516	3	VHL	3	10191513	Missense_Mutation	SNP	T	TCGA-CJ-4636-01A-02D-1386-10		10191513	187830917	10	26390											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443568	52443568	+	5'Flank	SNP	A	A	G			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr3:52443568A>G	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Splice_Site|PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Splice_Site	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.?(2)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACAGCCACTCACCCCTGACAT	0.577																																																2	Unknown(2)	kidney(1)|pleura(1)											211	221	218					3																	52443568		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443568A>G	Exception_encountered		K4DI82	Splice_Site	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293528	0.80914	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3639	0.66792	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52418608	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.090000	0.94144	1.809000	0.52856	0.533000	0.62120	.		0.577	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		G	52443568	A	G	52443568	1	3	488	0	1	0	0	0	0	0	0	0	1311	173	6	3		3	BAP1	3	52443568	5'Flank	SNP	A	TCGA-CJ-4636-01A-02D-1386-10	42252055	52443568	145578862	11	26391											
CWH43	80157	broad.mit.edu;hgsc.bcm.edu	37	4	49019269	49019269	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr4:49019269T>C	ENST00000226432.4	+	9	1373	c.1190T>C	c.(1189-1191)cTg>cCg	p.L397P	CWH43_ENST00000513409.1_Missense_Mutation_p.L370P	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	397					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGTTTAGTTCTGTGGCTGCTT	0.363																																																0													86	86	86					4																	49019269		2203	4300	6503	SO:0001583	missense	80157				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1190T>C	4.37:g.49019269T>C	ENSP00000226432:p.Leu397Pro		B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.431724	0.62844	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.53857	1.18;0.6	4.46	4.46	0.54185	.	0.397832	0.18219	N	0.147924	T	0.67002	0.2847	M	0.67953	2.075	0.80722	D	1	D	0.67145	0.996	D	0.65010	0.931	T	0.67114	-0.5752	9	.	.	.	.	12.434	0.55588	0.0:0.0:0.0:1.0	.	397	Q9H720	PG2IP_HUMAN	P	397;370	ENSP00000226432:L397P;ENSP00000422802:L370P	.	L	+	2	0	CWH43	48714026	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.321000	0.59209	2.012000	0.59069	0.477000	0.44152	CTG		0.363	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		C	49019269	T	C	49019269	3	2	488	1	0	0	0	0	1	0	0	0	4075	1580	55	3	1224	3	CWH43	4	49019269	Missense_Mutation	SNP	T	TCGA-CJ-4636-01A-02D-1386-10		49019269	142135007	12	26392											
NPFFR2	10886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	73013282	73013282	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr4:73013282A>T	ENST00000308744.6	+	4	1420	c.1322A>T	c.(1321-1323)aAt>aTt	p.N441I	NPFFR2_ENST00000395999.1_Missense_Mutation_p.N342I|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.N339I|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	441					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTCAACGAGAATTTCCGCCGT	0.463																																																0													82	85	84					4																	73013282		2203	4300	6503	SO:0001583	missense	10886			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1322A>T	4.37:g.73013282A>T	ENSP00000307822:p.Asn441Ile		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186466	0.57909	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.39056	1.1;1.1;1.1	5.83	5.83	0.93111	.	0.099693	0.44688	D	0.000421	T	0.65196	0.2668	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.74674	0.967;0.984	T	0.69131	-0.5226	10	0.87932	D	0	.	15.8582	0.79000	1.0:0.0:0.0:0.0	.	342;441	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	I	441;342;339	ENSP00000307822:N441I;ENSP00000379321:N342I;ENSP00000351599:N339I	ENSP00000307822:N441I	N	+	2	0	NPFFR2	73232146	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	9.195000	0.94971	2.225000	0.72522	0.533000	0.62120	AAT		0.463	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		T	73013282	A	T	73013282	3	4	488	1	0	0	0	0	1	0	0	0	10580	101	4	5	1342	5	NPFFR2	4	73013282	Missense_Mutation	SNP	A	TCGA-CJ-4636-01A-02D-1386-10	23994013	73013282	118140994	13	26393											
MAML3	55534	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	140640547	140640547	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr4:140640547T>C	ENST00000509479.2	-	5	4203	c.3347A>G	c.(3346-3348)gAc>gGc	p.D1116G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GATGATGGAGTCCACAAGGTC	0.572																																																0													52	57	56					4																	140640547		2072	4200	6272	SO:0001583	missense	55534			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3347A>G	4.37:g.140640547T>C	ENSP00000421180:p.Asp1116Gly			Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321540	0.81580	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.70749	-0.51	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000001	D	0.83326	0.5230	M	0.81239	2.535	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.65140	0.932;0.932	D	0.86258	0.1653	10	0.87932	D	0	.	14.9697	0.71223	0.0:0.0:0.0:1.0	.	1116;1112	E7EVW8;Q96JK9	.;MAML3_HUMAN	G	1116;423	ENSP00000421180:D1116G	ENSP00000421180:D1116G	D	-	2	0	MAML3	140859997	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.146000	0.71777	1.992000	0.58205	0.482000	0.46254	GAC		0.572	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			C	140640547	T	C	140640547	3	2	488	1	0	0	0	0	1	0	0	0	9209	1667	58	3	73	3	MAML3	4	140640547	Missense_Mutation	SNP	T	TCGA-CJ-4636-01A-02D-1386-10	67627265	140640547	50513729	14	26394											
ADAMTS6	11174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	64510620	64510620	+	IGR	SNP	C	C	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr5:64510620C>T								ADAMTS6 (16028 upstream) : ADAMTS6 (82414 downstream)																							GGGCATCTTACCTCCAGCACA	0.443																																																0													122	107	112					5																	64510620		2203	4300	6503	SO:0001628	intergenic_variant	11174																															5.37:g.64510620C>T				Splice_Site	SNP		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.48|17.48	3.400966|3.400966	0.62177|0.62177	.|.	.|.	ENSG00000049192|ENSG00000049192	ENST00000381055|ENST00000261306;ENST00000464680	.|T	.|0.29917	.|1.55	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59528	.|0.2200	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.62671	.|-0.6805	.|8	.|0.72032	.|D	.|0.01	.|.	19.037|19.037	0.92983|0.92983	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|859	.|D6R9L6	.|.	.|D	-1|809;859	.|ENSP00000423551:G859D	.|ENSP00000261306:G809D	.|G	-|-	.|2	.|0	ADAMTS6|ADAMTS6	64546376|64546376	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.320000|7.320000	0.79064|0.79064	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	.|GGT	0	0.443									T	64510620	C	T	64510620	1	4	488	0	1	0	0	0	0	0	0	0	270	521	18	2		2	ADAMTS6	5	64510620	IGR	SNP	C	TCGA-CJ-4636-01A-02D-1386-10		64510620	116404640	15	26395											
MAST4	375449	broad.mit.edu;ucsc.edu	37	5	66462005	66462005	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr5:66462005A>T	ENST00000403625.2	+	29	7293	c.6998A>T	c.(6997-6999)cAc>cTc	p.H2333L	MAST4_ENST00000404260.3_Missense_Mutation_p.H2336L|MAST4_ENST00000261569.7_Missense_Mutation_p.H2139L|MAST4_ENST00000405643.1_Missense_Mutation_p.H2154L|MAST4_ENST00000403666.1_Missense_Mutation_p.H2144L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2336						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCTCCAAAGCACCCCAAACCA	0.572											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													21	30	27					5																	66462005		2036	4140	6176	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6998A>T	5.37:g.66462005A>T	ENSP00000385727:p.His2333Leu	1092	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792733	0.31685	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.68181	-0.3;-0.3;-0.31;-0.31;-0.29	4.8	3.66	0.41972	.	0.507213	0.18203	N	0.148439	T	0.44540	0.1298	L	0.29908	0.895	0.27533	N	0.951029	B;B	0.06786	0.001;0.0	B;B	0.08055	0.001;0.003	T	0.34825	-0.9813	10	0.02654	T	1	-5.8115	5.3059	0.15803	0.6296:0.2025:0.0:0.1679	.	2336;2144	O15021;O15021-3	MAST4_HUMAN;.	L	2336;2333;2144;2154;2154;2139	ENSP00000385048:H2336L;ENSP00000385727:H2333L;ENSP00000384313:H2144L;ENSP00000384099:H2154L;ENSP00000261569:H2139L	ENSP00000261569:H2139L	H	+	2	0	MAST4	66497761	0.999000	0.42202	0.928000	0.36995	0.446000	0.32137	1.568000	0.36418	0.878000	0.35920	0.459000	0.35465	CAC		0.572	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66462005	A	T	66462005	3	4	488	1	0	0	0	0	1	0	0	0	9329	159	6	5	7242	5	MAST4	5	66462005	Missense_Mutation	SNP	A	TCGA-CJ-4636-01A-02D-1386-10	1951385	66462005	114453255	16	26396											
BDP1	55814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	70808132	70808132	+	Missense_Mutation	SNP	A	A	G	rs551127646	byFrequency	TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr5:70808132A>G	ENST00000358731.4	+	18	4387	c.4124A>G	c.(4123-4125)aAa>aGa	p.K1375R	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1375					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATTCTGAAAAAGAAGTATCA	0.363																																																0													89	88	88					5																	70808132		1810	4070	5880	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4124A>G	5.37:g.70808132A>G	ENSP00000351575:p.Lys1375Arg		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659537	0.67586	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.12465	2.68	4.64	4.64	0.57946	.	0.286563	0.25109	N	0.033066	T	0.25680	0.0625	M	0.71581	2.175	0.80722	D	1	D;D	0.57257	0.979;0.974	P;P	0.52189	0.558;0.692	T	0.01935	-1.1244	10	0.66056	D	0.02	.	10.7636	0.46279	1.0:0.0:0.0:0.0	.	1375;1375	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	R	1375;955	ENSP00000351575:K1375R	ENSP00000351575:K1375R	K	+	2	0	BDP1	70843888	1.000000	0.71417	0.301000	0.25044	0.032000	0.12392	1.189000	0.32114	1.854000	0.53819	0.533000	0.62120	AAA		0.363	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		G	70808132	A	G	70808132	3	3	488	1	0	0	0	0	1	0	0	0	1395	14	1	3	4194	3	BDP1	5	70808132	Missense_Mutation	SNP	A	TCGA-CJ-4636-01A-02D-1386-10	4346127	70808132	110107128	17	26397											
GRM6	2916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178416292	178416292	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr5:178416292G>C	ENST00000517717.1	-	6	1165	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Nonsense_Mutation_p.S376*			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	376					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGAATCGTCTGACTGGGTACC	0.592																																																0													80	77	78					5																	178416292		2203	4300	6503	SO:0001587	stop_gained	2916			U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1127C>G	5.37:g.178416292G>C	ENSP00000430767:p.Ser376*			Nonsense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118849	0.77323	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	.	.	.	5.14	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	11.7441	0.51809	0.0:0.0:0.6825:0.3175	.	.	.	.	X	408;376;376	.	ENSP00000231188:S376X	S	-	2	0	GRM6	178348898	0.000000	0.05858	0.018000	0.16275	0.006000	0.05464	0.138000	0.16016	1.268000	0.44264	0.655000	0.94253	TCA		0.592	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			C	178416292	G	C	178416292	4	2	488	1	0	0	0	0	0	1	0	0	6803	1294	45	4	1530	4	GRM6	5	178416292	Nonsense_Mutation	SNP	G	TCGA-CJ-4636-01A-02D-1386-10	107608160	178416292	2498968	18	26398											
ITPR3	3710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33657132	33657132	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr6:33657132G>A	ENST00000374316.5	+	51	7872	c.6812G>A	c.(6811-6813)cGc>cAc	p.R2271H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2271H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2271					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTCATCCTGCGCTCCATCTAC	0.582																																																0													108	92	97					6																	33657132		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6812G>A	6.37:g.33657132G>A	ENSP00000363435:p.Arg2271His		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495365	0.96355	.	.	ENSG00000096433	ENST00000374316	D	0.92699	-3.09	5.07	5.07	0.68467	.	0.053033	0.64402	D	0.000003	D	0.96204	0.8762	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.95	D	0.96347	0.9255	10	0.72032	D	0.01	-30.6562	18.6371	0.91383	0.0:0.0:1.0:0.0	.	2271;1941	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2271	ENSP00000363435:R2271H	ENSP00000363435:R2271H	R	+	2	0	ITPR3	33765110	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.263000	0.95617	2.653000	0.90120	0.561000	0.74099	CGC		0.582	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		A	33657132	G	A	33657132	3	1	488	1	0	0	0	0	1	0	0	0	7924	1087	38	1	7010	1	ITPR3	6	33657132	Missense_Mutation	SNP	G	TCGA-CJ-4636-01A-02D-1386-10		33657132	137457935	19	26399											
COL21A1	81578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56035909	56035909	+	Nonsense_Mutation	SNP	G	G	A	rs202026963		TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr6:56035909G>A	ENST00000244728.5	-	4	1055	c.658C>T	c.(658-660)Cga>Tga	p.R220*	COL21A1_ENST00000535941.1_Nonsense_Mutation_p.R220*|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.R220*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	220					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACTGGAATTCGTGTTGGACAG	0.318																																																0								G	stop/ARG	0,3656		0,0,1828	79	74	76		658	-0.3	1	6		76	1,8155		0,1,4077	yes	stop-gained	COL21A1	NM_030820.3		0,1,5905	AA,AG,GG		0.0123,0.0,0.0085		220/958	56035909	1,11811	1828	4078	5906	SO:0001587	stop_gained	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.658C>T	6.37:g.56035909G>A	ENSP00000244728:p.Arg220*		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Nonsense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	37	6.359240	0.97502	0.0	1.23E-4	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.	.	.	4.47	-0.303	0.12792	.	0.000000	0.47455	D	0.000221	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	13.2817	0.60219	0.0:0.0:0.3111:0.6889	.	.	.	.	X	220	.	ENSP00000244728:R220X	R	-	1	2	COL21A1	56143868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.111000	0.41883	0.273000	0.22049	0.585000	0.79938	CGA		0.318	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			A	56035909	G	A	56035909	4	1	488	1	0	0	0	0	0	1	0	0	3682	1153	40	1	2323	1	COL21A1	6	56035909	Nonsense_Mutation	SNP	G	TCGA-CJ-4636-01A-02D-1386-10	22378777	56035909	115079158	20	26400											
PNLDC1	154197	broad.mit.edu	37	6	160240368	160240368	+	Missense_Mutation	SNP	G	G	A	rs138386704		TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr6:160240368G>A	ENST00000610273.1	+	18	1654	c.1483G>A	c.(1483-1485)Gtc>Atc	p.V495I	PNLDC1_ENST00000392167.3_Missense_Mutation_p.V506I	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	495						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCCCCAAACGTCAACTGCCT	0.617																																																0								G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	88	66	74		1483	-7.8	0.8	6	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PNLDC1	NM_173516.1	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	495/521	160240368	3,13003	2203	4300	6503	SO:0001583	missense	154197			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1483G>A	6.37:g.160240368G>A	ENSP00000476448:p.Val495Ile		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	9.716	1.158311	0.21454	4.54E-4	1.16E-4	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.86	-7.76	0.01232	.	0.904550	0.09461	N	0.799073	T	0.10551	0.0258	N	0.11560	0.145	0.21527	N	0.999654	B;B	0.18310	0.027;0.016	B;B	0.14578	0.011;0.005	T	0.18871	-1.0323	9	0.17369	T	0.5	.	20.2616	0.98447	0.1653:0.0:0.8347:0.0	.	506;495	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	I	495;506	.	ENSP00000275275:V495I	V	+	1	0	PNLDC1	160160358	0.000000	0.05858	0.847000	0.33407	0.016000	0.09150	-0.446000	0.06837	-1.600000	0.01603	-0.291000	0.09656	GTC		0.617	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		A	160240368	G	A	160240368	3	1	488	1	0	0	0	0	1	0	0	0	12150	1145	40	1	1549	1	PNLDC1	6	160240368	Missense_Mutation	SNP	G	TCGA-CJ-4636-01A-02D-1386-10	104204459	160240368	10874699	21	26401											
PAPOLB	56903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	4899654	4899654	+	Silent	SNP	G	G	A			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr7:4899654G>A	ENST00000404991.1	-	1	1971	c.1785C>T	c.(1783-1785)caC>caT	p.H595H	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	595					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GAGAGACAGCGTGAGGAATAC	0.458																																																0													88	92	91					7																	4899654		2134	4278	6412	SO:0001819	synonymous_variant	56903			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1785C>T	7.37:g.4899654G>A			Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37																																																																																					0.458	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		A	4899654	G	A	4899654	2	1	488	1	0	0	0	0	0	0	0	1	11432	1136	40	1		1	PAPOLB	7	4899654	Silent	SNP	G	TCGA-CJ-4636-01A-02D-1386-10		4899654	154239009	22	26402											
FBXL13	222235	broad.mit.edu;hgsc.bcm.edu	37	7	102665656	102665656	+	Silent	SNP	A	A	G			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr7:102665656A>G	ENST00000313221.4	-	6	775	c.349T>C	c.(349-351)Ttg>Ctg	p.L117L	FBXL13_ENST00000393772.2_Silent_p.L117L|FBXL13_ENST00000379308.3_Silent_p.L117L|FBXL13_ENST00000379305.3_Silent_p.L117L|FBXL13_ENST00000455112.2_Silent_p.L117L|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000456695.1_Silent_p.L117L|FBXL13_ENST00000379306.3_Silent_p.L117L|FBXL13_ENST00000436908.1_Silent_p.L117L	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	117										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CATTTTTTCAATTGAAGTTCA	0.338																																																0													38	36	37					7																	102665656		2200	4297	6497	SO:0001819	synonymous_variant	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.349T>C	7.37:g.102665656A>G			C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	ENST00000313221.4	37	CCDS5726.1																																																																																				0.338	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		G	102665656	A	G	102665656	2	3	488	1	0	0	0	0	0	0	0	1	5711	98	4	3		3	FBXL13	7	102665656	Silent	SNP	A	TCGA-CJ-4636-01A-02D-1386-10	97766002	102665656	56473007	23	26403											
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106815071	106815071	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr8:106815071A>C	ENST00000407775.2	+	8	3011	c.2761A>C	c.(2761-2763)Aat>Cat	p.N921H	ZFPM2_ENST00000517361.1_Missense_Mutation_p.N789H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N789H|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N652H|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	921					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAAAAATGGGAATTTGAAGCA	0.458																																																0													42	40	41					8																	106815071		1882	4106	5988	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2761A>C	8.37:g.106815071A>C	ENSP00000384179:p.Asn921His		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471668	0.26423	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.22945	1.93;2.42;2.42;3.62	5.76	5.76	0.90799	.	0.135289	0.64402	D	0.000003	T	0.21062	0.0507	L	0.27053	0.805	0.52501	D	0.999954	P	0.49447	0.924	B	0.40782	0.34	T	0.01604	-1.1314	10	0.45353	T	0.12	.	16.0709	0.80928	1.0:0.0:0.0:0.0	.	921	Q8WW38	FOG2_HUMAN	H	921;789;789;652	ENSP00000384179:N921H;ENSP00000430757:N789H;ENSP00000428720:N789H;ENSP00000367733:N652H	ENSP00000367733:N652H	N	+	1	0	ZFPM2	106884247	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	7.219000	0.78000	2.198000	0.70561	0.528000	0.53228	AAT		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			C	106815071	A	C	106815071	3	2	488	1	0	0	0	0	1	0	0	0	17663	246	9	5	2791	5	ZFPM2	8	106815071	Missense_Mutation	SNP	A	TCGA-CJ-4636-01A-02D-1386-10		106815071	39548951	24	26404											
ST3GAL1	6482	broad.mit.edu;ucsc.edu	37	8	134478309	134478309	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr8:134478309T>C	ENST00000319914.5	-	5	1358	c.331A>G	c.(331-333)Aat>Gat	p.N111D	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.N111D|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.N111D|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.N111D			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	111			N -> S (in dbSNP:rs2230544).		carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TTCAAGTTATTGGGCTTCTTC	0.612																																																0													73	70	71					8																	134478309		2203	4300	6503	SO:0001583	missense	6482			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.331A>G	8.37:g.134478309T>C	ENSP00000318445:p.Asn111Asp		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	T	9.977	1.227053	0.22542	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.69	0.478	0.16789	.	0.830200	0.11393	N	0.568572	T	0.24392	0.0591	L	0.40543	1.245	0.09310	N	1	B	0.12013	0.005	B	0.17433	0.018	T	0.27157	-1.0082	10	0.24483	T	0.36	-4.7921	11.6907	0.51514	0.0:0.0:0.4309:0.5691	.	111	Q11201	SIA4A_HUMAN	D	111	ENSP00000318445:N111D;ENSP00000414073:N111D;ENSP00000428540:N111D;ENSP00000430515:N111D	ENSP00000318445:N111D	N	-	1	0	ST3GAL1	134547491	0.027000	0.19231	0.136000	0.22124	0.967000	0.64934	0.653000	0.24902	0.230000	0.21059	0.454000	0.30748	AAT		0.612	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		C	134478309	T	C	134478309	3	2	488	1	0	0	0	0	1	0	0	0	15219	1812	63	3	711	3	ST3GAL1	8	134478309	Missense_Mutation	SNP	T	TCGA-CJ-4636-01A-02D-1386-10	27663238	134478309	11885713	25	26405											
EPPK1	83481	broad.mit.edu	37	8	144942850	144942850	+	Silent	SNP	G	G	A	rs267601818		TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr8:144942850G>A	ENST00000525985.1	-	2	4643	c.4572C>T	c.(4570-4572)ctC>ctT	p.L1524L				P58107	EPIPL_HUMAN	epiplakin 1	1524						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGCTTCCGGAGCCCTCTGA	0.672																																																0													12	14	13					8																	144942850		2040	4190	6230	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4572C>T	8.37:g.144942850G>A			Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																					0.672	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144942850	G	A	144942850	2	1	488	1	0	0	0	0	0	0	0	1	5192	1161	41	2		2	EPPK1	8	144942850	Silent	SNP	G	TCGA-CJ-4636-01A-02D-1386-10	10464541	144942850	1421172	26	26406											
OGN	4969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95165563	95165563	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr9:95165563A>C	ENST00000262551.4	-	2	547	c.127T>G	c.(127-129)Ttt>Gtt	p.F43V	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.F43V	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	43					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TCTTGGCTAAATATGGATTCT	0.353																																																0													67	68	68					9																	95165563		2203	4300	6503	SO:0001583	missense	4969			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8126	protein-coding gene	gene with protein product	"mimecan proteoglycan"	602383	"osteoglycin (osteoinductive factor)"			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.127T>G	9.37:g.95165563A>C	ENSP00000262551:p.Phe43Val		Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	ENST00000262551.4	37	CCDS6695.1	.	.	.	.	.	.	.	.	.	.	A	4.006	-0.001551	0.07819	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	T;T;T	0.59638	0.26;0.26;0.25	5.15	4.02	0.46733	.	0.382132	0.27219	N	0.020378	T	0.36468	0.0968	L	0.27053	0.805	0.09310	N	1	B;B	0.26318	0.146;0.146	B;B	0.22152	0.038;0.016	T	0.14062	-1.0486	10	0.17369	T	0.5	.	5.0653	0.14578	0.7397:0.0:0.0887:0.1716	.	101;43	B4DI63;P20774	.;MIME_HUMAN	V	43;43;101	ENSP00000262551:F43V;ENSP00000364711:F43V;ENSP00000396709:F101V	ENSP00000262551:F43V	F	-	1	0	OGN	94205384	0.291000	0.24352	0.685000	0.30070	0.155000	0.21991	0.777000	0.26718	1.065000	0.40693	0.533000	0.62120	TTT		0.353	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1	NM_024416		C	95165563	A	C	95165563	3	2	488	1	0	0	0	0	1	0	0	0	10848	101	4	5	793	5	OGN	9	95165563	Missense_Mutation	SNP	A	TCGA-CJ-4636-01A-02D-1386-10		95165563	46047868	27	26407											
MBL2	4153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	54527937	54527937	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr10:54527937C>T	ENST00000373968.3	-	4	771	c.707G>A	c.(706-708)tGc>tAc	p.C236Y		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	236	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGAGGTGGAGCAGGGGACGTC	0.507																																																0													286	256	266					10																	54527937		2202	4300	6502	SO:0001583	missense	4153			AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.707G>A	10.37:g.54527937C>T	ENSP00000363079:p.Cys236Tyr		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944135	0.73672	.	.	ENSG00000165471	ENST00000373968	T	0.60672	0.17	5.13	5.13	0.70059	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000002	D	0.85915	0.5808	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91596	0.5291	10	0.87932	D	0	-7.8349	16.4461	0.83932	0.0:1.0:0.0:0.0	.	236	P11226	MBL2_HUMAN	Y	236	ENSP00000363079:C236Y	ENSP00000363079:C236Y	C	-	2	0	MBL2	54197943	0.950000	0.32346	0.238000	0.24106	0.007000	0.05969	3.242000	0.51384	2.532000	0.85374	0.591000	0.81541	TGC		0.507	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		T	54527937	C	T	54527937	3	4	488	1	0	0	0	0	1	0	0	0	9352	710	25	2	43	2	MBL2	10	54527937	Missense_Mutation	SNP	C	TCGA-CJ-4636-01A-02D-1386-10		54527937	81006810	28	26408											
OR8D4	338662	broad.mit.edu;ucsc.edu	37	11	123777914	123777914	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr11:123777914A>T	ENST00000321355.2	+	1	806	c.776A>T	c.(775-777)tAt>tTt	p.Y259F		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ATGTCCATGTATCTCAAACCT	0.443																																																0													114	114	114					11																	123777914		2202	4299	6501	SO:0001583	missense	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.776A>T	11.37:g.123777914A>T	ENSP00000325381:p.Tyr259Phe		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305852	0.81247	.	.	ENSG00000181518	ENST00000321355	T	0.00291	8.27	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000596	T	0.01189	0.0039	H	0.96430	3.82	0.33018	D	0.528403	D	0.89917	1.0	D	0.77557	0.99	T	0.06770	-1.0808	10	0.87932	D	0	.	15.1504	0.72692	1.0:0.0:0.0:0.0	.	259	Q8NGM9	OR8D4_HUMAN	F	259	ENSP00000325381:Y259F	ENSP00000325381:Y259F	Y	+	2	0	OR8D4	123283124	0.309000	0.24518	1.000000	0.80357	0.992000	0.81027	4.248000	0.58760	2.214000	0.71695	0.533000	0.62120	TAT		0.443	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		T	123777914	A	T	123777914	3	4	488	1	0	0	0	0	1	0	0	0	11235	449	16	5	778	5	OR8D4	11	123777914	Missense_Mutation	SNP	A	TCGA-CJ-4636-01A-02D-1386-10		123777914	11228602	29	26409											
C12orf39	80763	broad.mit.edu;ucsc.edu	37	12	21679901	21679901	+	Splice_Site	SNP	G	G	T	rs200909527		TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr12:21679901G>T	ENST00000256969.2	+	2	253		c.e2+1			NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN							long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CGCTCCGCAGGTAATCAAATG	0.413																																																0													108	110	109					12																	21679901		2203	4300	6503	SO:0001630	splice_region_variant	80763																														ENST00000256969.2:c.87+1G>T	12.37:g.21679901G>T			B3KND6	Splice_Site	SNP	ENST00000256969.2	37	CCDS31757.1	.	.	.	.	.	.	.	.	.	.	G	9.813	1.183764	0.21870	.	.	ENSG00000134548	ENST00000256969	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5994	0.62010	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C12orf39	21571168	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	4.862000	0.62976	2.656000	0.90262	0.591000	0.81541	.		0.413	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1		Intron	T	21679901	G	T	21679901	5	4	488	1	0	0	0	0	0	0	1	0	1686	1275	44	4	94	4	C12orf39	12	21679901	Splice_Site	SNP	G	TCGA-CJ-4636-01A-02D-1386-10		21679901	112171994	30	26410											
PDE1B	5153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54971106	54971106	+	Silent	SNP	G	G	A			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr12:54971106G>A	ENST00000243052.3	+	15	2041	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Silent_p.L515L|PDE1B_ENST00000538346.1_Silent_p.L494L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	535					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ATGGGAATCTGGATTAGCCCT	0.577																																																0													141	137	138					12																	54971106		2203	4300	6503	SO:0001819	synonymous_variant	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1605G>A	12.37:g.54971106G>A			Q92825|Q96KP3	Silent	SNP	ENST00000243052.3	37	CCDS8882.1																																																																																				0.577	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			A	54971106	G	A	54971106	2	1	488	1	0	0	0	0	0	0	0	1	11636	1335	47	2		2	PDE1B	12	54971106	Silent	SNP	G	TCGA-CJ-4636-01A-02D-1386-10	33291205	54971106	78880789	31	26411											
LRRC10	376132	broad.mit.edu;hgsc.bcm.edu	37	12	70003903	70003903	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr12:70003903C>T	ENST00000361484.3	-	1	1039	c.716G>A	c.(715-717)aGa>aAa	p.R239K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	239					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTCTGCCCATCTCCCCACACG	0.597																																																0													95	79	84					12																	70003903		2203	4300	6503	SO:0001583	missense	376132			AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.716G>A	12.37:g.70003903C>T	ENSP00000355166:p.Arg239Lys		Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521137	0.85600	.	.	ENSG00000198812	ENST00000361484	T	0.56611	0.45	5.63	4.74	0.60224	.	0.044695	0.85682	N	0.000000	T	0.49184	0.1542	M	0.67953	2.075	0.38435	D	0.946547	B	0.13145	0.007	B	0.15052	0.012	T	0.49943	-0.8885	10	0.11182	T	0.66	.	14.6078	0.68493	0.0:0.9299:0.0:0.0701	.	239	Q5BKY1	LRC10_HUMAN	K	239	ENSP00000355166:R239K	ENSP00000355166:R239K	R	-	2	0	LRRC10	68290170	0.939000	0.31865	0.983000	0.44433	0.992000	0.81027	4.045000	0.57368	1.512000	0.48834	0.561000	0.74099	AGA		0.597	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		T	70003903	C	T	70003903	3	4	488	1	0	0	0	0	1	0	0	0	8969	913	32	2	121	2	LRRC10	12	70003903	Missense_Mutation	SNP	C	TCGA-CJ-4636-01A-02D-1386-10	15032797	70003903	63847992	32	26412											
SART3	9733	hgsc.bcm.edu;ucsc.edu	37	12	108941708	108941708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr12:108941708delC	ENST00000228284.3	-	3	733	c.499delG	c.(499-501)gagfs	p.E167fs	SART3_ENST00000431469.2_Frame_Shift_Del_p.E167fs|SART3_ENST00000552221.1_5'UTR	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	167					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TACACGTGCTCTCTGTCCAGG	0.463									Porokeratosis																																							0													77	72	74					12																	108941708		2203	4300	6503	SO:0001589	frameshift_variant	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.499delG	12.37:g.108941708delC	ENSP00000228284:p.Glu167fs		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Frame_Shift_Del	DEL	ENST00000228284.3	37	CCDS9117.1																																																																																				0.463	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			-	108941708	C	-	108941708	7	5	488	1	0	1	0	1	0	0	0	0	13853	922	32	0	2460	0	SART3	12	108941708	Frame_Shift_Del	DEL	C	TCGA-CJ-4636-01A-02D-1386-10	38937805	108941708	24910187	33	26413											
CCDC62	84660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123307924	123307924	+	Silent	SNP	C	C	A			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr12:123307924C>A	ENST00000253079.6	+	12	2357	c.2013C>A	c.(2011-2013)gtC>gtA	p.V671V	CCDC62_ENST00000392441.4_Intron|CCDC62_ENST00000392440.2_Silent_p.V432V|CCDC62_ENST00000537566.1_Silent_p.V432V	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	671					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AGTCAGAGGTCCCAGAAGAGT	0.353																																																0													93	99	97					12																	123307924		2203	4300	6503	SO:0001819	synonymous_variant	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.2013C>A	12.37:g.123307924C>A			A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Silent	SNP	ENST00000253079.6	37	CCDS9238.1																																																																																				0.353	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		A	123307924	C	A	123307924	2	1	488	1	0	0	0	0	0	0	0	1	2835	842	30	4		4	CCDC62	12	123307924	Silent	SNP	C	TCGA-CJ-4636-01A-02D-1386-10	14366216	123307924	10543971	34	26414											
PARP4	143	hgsc.bcm.edu;ucsc.edu	37	13	25034117	25034117	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr13:25034117delT	ENST00000381989.3	-	18	2396	c.2291delA	c.(2290-2292)aacfs	p.N764fs	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	764					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AACCTGAAGGTTTTCATTCAA	0.498																																																0													69	66	67					13																	25034117		2203	4300	6503	SO:0001589	frameshift_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2291delA	13.37:g.25034117delT	ENSP00000371419:p.Asn764fs		O75903|Q14682|Q5QNZ9|Q9H1M6	Frame_Shift_Del	DEL	ENST00000381989.3	37	CCDS9307.1																																																																																				0.498	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		-	25034117	T	-	25034117	7	5	488	1	0	1	0	1	0	0	0	0	11465	1725	60	0	2951	0	PARP4	13	25034117	Frame_Shift_Del	DEL	T	TCGA-CJ-4636-01A-02D-1386-10		25034117	90135761	35	26415											
HNRNPC	3183	broad.mit.edu;hgsc.bcm.edu	37	14	21699200	21699200	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr14:21699200G>T	ENST00000320084.7	-	3	512	c.273C>A	c.(271-273)aaC>aaA	p.N91K	HNRNPC_ENST00000420743.2_Missense_Mutation_p.N91K|HNRNPC_ENST00000336053.6_Missense_Mutation_p.N91K|HNRNPC_ENST00000555309.1_Missense_Mutation_p.N91K|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000555883.1_Missense_Mutation_p.N91K|HNRNPC_ENST00000449098.1_Missense_Mutation_p.N91K|HNRNPC_ENST00000554455.1_Missense_Mutation_p.N91K|HNRNPC_ENST00000553753.1_Missense_Mutation_p.N91K|HNRNPC_ENST00000557201.1_Missense_Mutation_p.N91K|HNRNPC_ENST00000554969.1_Missense_Mutation_p.N91K|HNRNPC_ENST00000556142.1_Missense_Mutation_p.N91K|HNRNPC_ENST00000430246.2_Missense_Mutation_p.N91K|HNRNPC_ENST00000556513.1_Missense_Mutation_p.N91K|HNRNPC_ENST00000553300.1_Missense_Mutation_p.N91K|HNRNPC_ENST00000555914.1_Missense_Mutation_p.N91K|HNRNPC_ENST00000556897.1_Missense_Mutation_p.N91K	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	91					3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CTTTTCCTCGGTTCACTTTTG	0.413																																					NSCLC(108;607 2244 12726 38757)											0													93	96	95					14																	21699200		2201	4298	6499	SO:0001583	missense	3183				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"RNA binding motif (RRM) containing"	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.273C>A	14.37:g.21699200G>T	ENSP00000319690:p.Asn91Lys		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	ENST00000320084.7	37	CCDS41915.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923505	0.52653	.	.	ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000452166;ENST00000555883;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554383;ENST00000555215;ENST00000555137;ENST00000554891;ENST00000556226;ENST00000555176	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;2.68;1.07;1.07;1.07;1.07;1.07;1.07	5.88	3.09	0.35607	Nucleotide-binding, alpha-beta plait (1);	0.163970	0.36854	U	0.002369	T	0.41581	0.1165	M	0.64404	1.975	0.42341	D	0.992332	B;B;B;B;B	0.22851	0.021;0.001;0.076;0.009;0.001	B;B;B;B;B	0.29267	0.017;0.005;0.1;0.027;0.009	T	0.34477	-0.9827	10	0.72032	D	0.01	.	10.1977	0.43065	0.218:0.0:0.782:0.0	.	91;91;91;91;91	B4DY08;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;HNRPC_HUMAN;.	K	91;91;91;91;91;91;91;91;91;91;91;91;91;91;91;91;91;12;91;91;91;91;91;91;91	ENSP00000338095:N91K;ENSP00000319690:N91K;ENSP00000404559:N91K;ENSP00000450725:N91K;ENSP00000451187:N91K;ENSP00000451291:N91K;ENSP00000442816:N91K;ENSP00000450548:N91K;ENSP00000451708:N91K;ENSP00000450790:N91K;ENSP00000450629:N91K;ENSP00000452214:N91K;ENSP00000452276:N91K;ENSP00000450544:N91K;ENSP00000451176:N91K;ENSP00000404848:N91K;ENSP00000450601:N12K;ENSP00000452021:N91K;ENSP00000452213:N91K;ENSP00000452185:N91K;ENSP00000450467:N91K;ENSP00000451292:N91K;ENSP00000452573:N91K	ENSP00000319690:N91K	N	-	3	2	HNRNPC	20769040	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.709000	0.54853	0.404000	0.25506	-0.218000	0.12543	AAC		0.413	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			T	21699200	G	T	21699200	3	4	488	1	0	0	0	0	1	0	0	0	7264	1252	44	4	671	4	HNRNPC	14	21699200	Missense_Mutation	SNP	G	TCGA-CJ-4636-01A-02D-1386-10		21699200	85650340	36	26416											
METTL3	56339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21966492	21966492	+	Silent	SNP	C	C	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr14:21966492C>T	ENST00000298717.4	-	11	1804	c.1653G>A	c.(1651-1653)ctG>ctA	p.L551L	TOX4_ENST00000262709.3_3'UTR|TOX4_ENST00000405508.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	551					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GGATCCCATCCAGTTGGTTTC	0.418																																																0													129	117	121					14																	21966492		2203	4300	6503	SO:0001819	synonymous_variant	56339			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1653G>A	14.37:g.21966492C>T			O14736|Q86V05|Q9HB32	Silent	SNP	ENST00000298717.4	37	CCDS32044.1																																																																																				0.418	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		T	21966492	C	T	21966492	2	4	488	1	0	0	0	0	0	0	0	1	9503	581	21	2		2	METTL3	14	21966492	Silent	SNP	C	TCGA-CJ-4636-01A-02D-1386-10	267292	21966492	85383048	37	26417			1	41		4	4	1156	C		1.596366e-09
METTL3	56339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21967449	21967449	+	Splice_Site	SNP	C	C	G			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr14:21967449C>G	ENST00000298717.4	-	9	1670		c.e9+1			NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3						circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GAAGCACATACCTCAGCTACG	0.423																																																0													155	143	147					14																	21967449		2203	4300	6503	SO:0001630	splice_region_variant	56339			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1518+1G>C	14.37:g.21967449C>G			O14736|Q86V05|Q9HB32	Splice_Site	SNP	ENST00000298717.4	37	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286285	0.80803	.	.	ENSG00000165819	ENST00000298717	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5764	0.87950	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	METTL3	21037289	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.268000	0.65536	2.449000	0.82847	0.467000	0.42956	.		0.423	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852	Intron	G	21967449	C	G	21967449	5	3	488	1	0	0	0	0	0	0	1	0	9503	521	18	4	235	4	METTL3	14	21967449	Splice_Site	SNP	C	TCGA-CJ-4636-01A-02D-1386-10	957	21967449	85382091	38	26418			1	41		4	4	1156	C		1.596366e-09
METTL3	56339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21967512	21967512	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr14:21967512C>T	ENST00000298717.4	-	9	1607	c.1456G>A	c.(1456-1458)Ggt>Agt	p.G486S		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	486					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CCTTTGACACCAACCTGCTCA	0.433																																																0													174	163	166					14																	21967512		2203	4300	6503	SO:0001583	missense	56339			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1456G>A	14.37:g.21967512C>T	ENSP00000298717:p.Gly486Ser		O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254221	0.95336	.	.	ENSG00000165819	ENST00000298717	T	0.54866	0.55	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86253	0.1650	10	0.72032	D	0.01	-15.9953	17.7965	0.88574	0.0:1.0:0.0:0.0	.	486	Q86U44	MTA70_HUMAN	S	486	ENSP00000298717:G486S	ENSP00000298717:G486S	G	-	1	0	METTL3	21037352	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.762000	0.74950	2.506000	0.84524	0.467000	0.42956	GGT		0.433	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		T	21967512	C	T	21967512	3	4	488	1	0	0	0	0	1	0	0	0	9503	594	21	2	298	2	METTL3	14	21967512	Missense_Mutation	SNP	C	TCGA-CJ-4636-01A-02D-1386-10	63	21967512	85382028	39	26419			1	41		4	4	1156	C		1.596366e-09
METTL3	56339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21967647	21967647	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr14:21967647C>T	ENST00000298717.4	-	8	1592	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	481					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGCAGTGTTCCTTCCCATGG	0.448																																																0													162	153	156					14																	21967647		2203	4300	6503	SO:0001583	missense	56339			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1441G>A	14.37:g.21967647C>T	ENSP00000298717:p.Glu481Lys		O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127984	0.94473	.	.	ENSG00000165819	ENST00000298717	T	0.71461	-0.57	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.89863	0.6838	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93353	0.6720	10	0.87932	D	0	-14.0611	17.016	0.86419	0.0:1.0:0.0:0.0	.	481	Q86U44	MTA70_HUMAN	K	481	ENSP00000298717:E481K	ENSP00000298717:E481K	E	-	1	0	METTL3	21037487	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.059000	0.76684	2.559000	0.86315	0.460000	0.39030	GAA		0.448	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		T	21967647	C	T	21967647	3	4	488	1	0	0	0	0	1	0	0	0	9503	864	30	2	317	2	METTL3	14	21967647	Missense_Mutation	SNP	C	TCGA-CJ-4636-01A-02D-1386-10	135	21967647	85381893	40	26420			1	41		4	4	1156	C		1.596366e-09
PAK6	56924	hgsc.bcm.edu;ucsc.edu	37	15	40564552	40564552	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr15:40564552C>T	ENST00000542403.2	+	4	1097	c.986C>T	c.(985-987)cCc>cTc	p.P329L	PAK6_ENST00000260404.4_Missense_Mutation_p.P329L|PAK6_ENST00000560346.1_Missense_Mutation_p.P329L|PAK6_ENST00000453867.1_Missense_Mutation_p.P329L|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.P329L|PAK6_ENST00000455577.2_Missense_Mutation_p.P329L	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	329	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ACCAGCAGCCCCCAGAAGTCC	0.687																																																0													56	65	62					15																	40564552		2203	4300	6503	SO:0001583	missense	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.986C>T	15.37:g.40564552C>T	ENSP00000439597:p.Pro329Leu		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647016	0.47258	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.76709	-0.94;-0.94;-1.04;-0.94;-0.94	4.69	3.76	0.43208	.	0.108132	0.64402	D	0.000004	T	0.65112	0.2660	L	0.29908	0.895	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	T	0.65364	-0.6186	10	0.72032	D	0.01	.	9.0686	0.36478	0.0:0.8351:0.0:0.1649	.	329;329	Q9NQU5;G5E9R2	PAK6_HUMAN;.	L	329	ENSP00000406873:P329L;ENSP00000401153:P329L;ENSP00000409465:P329L;ENSP00000260404:P329L;ENSP00000439597:P329L	ENSP00000260404:P329L	P	+	2	0	PAK6	38351844	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.662000	0.37418	2.318000	0.78349	0.555000	0.69702	CCC		0.687	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			T	40564552	C	T	40564552	3	4	488	1	0	0	0	0	1	0	0	0	11406	623	22	2	996	2	PAK6	15	40564552	Missense_Mutation	SNP	C	TCGA-CJ-4636-01A-02D-1386-10		40564552	61966840	41	26421											
RTF1	23168	broad.mit.edu	37	15	41769654	41769654	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr15:41769654A>T	ENST00000389629.4	+	14	1694		c.e14-1			NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)						DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CTTACCCCACAGTTACATCAA	0.473																																																0													112	106	108					15																	41769654		2203	4300	6503	SO:0001630	splice_region_variant	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1683-1A>T	15.37:g.41769654A>T			Q96BX6	Splice_Site	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268785	0.80469	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4462	0.75232	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RTF1	39556946	1.000000	0.71417	0.935000	0.37517	0.928000	0.56348	8.658000	0.91110	2.235000	0.73313	0.460000	0.39030	.		0.473	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138	Intron	T	41769654	A	T	41769654	5	4	488	1	0	0	0	0	0	0	1	0	13727	202	7	5	1735	5	RTF1	15	41769654	Splice_Site	SNP	A	TCGA-CJ-4636-01A-02D-1386-10	1205102	41769654	60761738	42	26422											
SECISBP2L	9728	broad.mit.edu	37	15	49301547	49301547	+	Silent	SNP	A	A	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr15:49301547A>C	ENST00000559471.1	-	14	2156	c.1893T>G	c.(1891-1893)acT>acG	p.T631T	SECISBP2L_ENST00000261847.3_Silent_p.T586T	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	631							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GAGAGAGTGAAGTATCACTGG	0.438																																																0													168	152	157					15																	49301547		2197	4295	6492	SO:0001819	synonymous_variant	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1893T>G	15.37:g.49301547A>C			Q8N767	Silent	SNP	ENST00000559471.1	37	CCDS53942.1																																																																																				0.438	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		C	49301547	A	C	49301547	2	2	488	1	0	0	0	0	0	0	0	1	14013	59	3	5		5	SECISBP2L	15	49301547	Silent	SNP	A	TCGA-CJ-4636-01A-02D-1386-10	7531893	49301547	53229845	43	26423											
CCNF	899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2503516	2503516	+	Missense_Mutation	SNP	C	C	T	rs200908912		TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr16:2503516C>T	ENST00000397066.4	+	15	1781	c.1693C>T	c.(1693-1695)Ccc>Tcc	p.P565S	RP11-715J22.3_ENST00000561653.1_RNA|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	565					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CCTCAGCTCTCCCTCGGGGCG	0.607																																																0													93	85	88					16																	2503516		2198	4300	6498	SO:0001583	missense	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1693C>T	16.37:g.2503516C>T	ENSP00000380256:p.Pro565Ser		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221020	0.58560	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.34472	1.36	4.92	4.92	0.64577	.	0.049784	0.85682	D	0.000000	T	0.44808	0.1311	L	0.59436	1.845	0.80722	D	1	P	0.45044	0.849	P	0.47102	0.537	T	0.42616	-0.9441	10	0.48119	T	0.1	-27.1386	16.6901	0.85319	0.0:1.0:0.0:0.0	.	565	P41002	CCNF_HUMAN	S	565;480	ENSP00000380256:P565S	ENSP00000293968:P480S	P	+	1	0	CCNF	2443517	1.000000	0.71417	0.945000	0.38365	0.473000	0.32948	6.135000	0.71696	2.272000	0.75746	0.455000	0.32223	CCC		0.607	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		T	2503516	C	T	2503516	3	4	488	1	0	0	0	0	1	0	0	0	2924	855	30	2	1751	2	CCNF	16	2503516	Missense_Mutation	SNP	C	TCGA-CJ-4636-01A-02D-1386-10		2503516	87851237	44	26424											
ADCY9	115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4043480	4043480	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr16:4043480G>T	ENST00000294016.3	-	4	2454	c.1916C>A	c.(1915-1917)cCc>cAc	p.P639H	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	639					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCAGATTTGGGAGCAAATGT	0.542																																																0													128	122	124					16																	4043480		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1916C>A	16.37:g.4043480G>T	ENSP00000294016:p.Pro639His		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937252	0.73557	.	.	ENSG00000162104	ENST00000294016	D	0.82803	-1.65	5.36	5.36	0.76844	.	0.202033	0.42294	D	0.000735	T	0.80188	0.4577	L	0.36672	1.1	0.39811	D	0.972703	P	0.51351	0.944	P	0.48189	0.57	T	0.77088	-0.2717	10	0.14656	T	0.56	.	17.2861	0.87142	0.0:0.0:1.0:0.0	.	639	O60503	ADCY9_HUMAN	H	639	ENSP00000294016:P639H	ENSP00000294016:P639H	P	-	2	0	ADCY9	3983481	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.119000	0.64679	2.514000	0.84764	0.544000	0.68410	CCC		0.542	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			T	4043480	G	T	4043480	3	4	488	1	0	0	0	0	1	0	0	0	301	1232	43	4	2177	4	ADCY9	16	4043480	Missense_Mutation	SNP	G	TCGA-CJ-4636-01A-02D-1386-10	1539964	4043480	86311273	45	26425	200	2									
ADCY9	115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4043482	4043482	+	Silent	SNP	A	A	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr16:4043482A>T	ENST00000294016.3	-	4	2452	c.1914T>A	c.(1912-1914)gcT>gcA	p.A638A	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	638					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGATTTGGGAGCAAATGTGA	0.547																																																0													130	123	126					16																	4043482		2197	4300	6497	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1914T>A	16.37:g.4043482A>T			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																				0.547	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			T	4043482	A	T	4043482	2	4	488	1	0	0	0	0	0	0	0	1	301	291	11	5		5	ADCY9	16	4043482	Silent	SNP	A	TCGA-CJ-4636-01A-02D-1386-10	2	4043482	86311271	46	26426	200	2									
CA7	766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66887326	66887326	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr16:66887326G>T	ENST00000338437.2	+	7	829	c.720G>T	c.(718-720)agG>agT	p.R240S	CA7_ENST00000394069.3_Missense_Mutation_p.R184S|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	240					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.R240R(1)		kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	ACGATGAGAGGATCCACATGG	0.602																																																1	Substitution - coding silent(1)	kidney(1)											71	63	66					16																	66887326		2200	4300	6500	SO:0001583	missense	766				CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"Carbonic anhydrases"	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.720G>T	16.37:g.66887326G>T	ENSP00000345659:p.Arg240Ser		Q541F0|Q86YU0	Missense_Mutation	SNP	ENST00000338437.2	37	CCDS10821.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672546	0.29693	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	T;T	0.62364	0.03;0.03	5.18	4.22	0.49857	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.076000	0.50627	D	0.000117	T	0.45155	0.1328	N	0.10874	0.06	0.49051	D	0.999747	P	0.34977	0.478	B	0.40940	0.344	T	0.49123	-0.8972	10	0.62326	D	0.03	-0.4708	7.9844	0.30202	0.0821:0.0:0.7601:0.1578	.	240	P43166	CAH7_HUMAN	S	240;184	ENSP00000345659:R240S;ENSP00000377632:R184S	ENSP00000345659:R240S	R	+	3	2	CA7	65444827	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	4.192000	0.58378	1.320000	0.45209	0.561000	0.74099	AGG		0.602	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1			T	66887326	G	T	66887326	3	4	488	1	0	0	0	0	1	0	0	0	2524	1165	41	4	746	4	CA7	16	66887326	Missense_Mutation	SNP	G	TCGA-CJ-4636-01A-02D-1386-10	62843844	66887326	23467427	47	26427											
AP1G1	164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71789925	71789925	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr16:71789925T>C	ENST00000299980.4	-	12	1667	c.1226A>G	c.(1225-1227)gAa>gGa	p.E409G	AP1G1_ENST00000569748.1_Missense_Mutation_p.E409G|AP1G1_ENST00000393512.3_Missense_Mutation_p.E412G|AP1G1_ENST00000433195.2_Missense_Mutation_p.E432G|AP1G1_ENST00000423132.2_Missense_Mutation_p.E412G|SNORD71_ENST00000411292.1_RNA	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	409					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATCTTACTTTTCTGCAGCAAG	0.408																																																0													94	102	100					16																	71789925		2198	4300	6498	SO:0001583	missense	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1226A>G	16.37:g.71789925T>C	ENSP00000299980:p.Glu409Gly		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974873	0.74360	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.22	5.22	0.72569	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.100193	0.64402	D	0.000002	T	0.49677	0.1571	M	0.89095	3.005	0.80722	D	1	B;P;B	0.34662	0.295;0.462;0.444	B;B;B	0.42087	0.375;0.375;0.209	T	0.57991	-0.7715	10	0.66056	D	0.02	.	15.0846	0.72142	0.0:0.0:0.0:1.0	.	409;432;412	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	G	409;412;412;432;494	ENSP00000299980:E409G;ENSP00000377148:E412G;ENSP00000409153:E412G;ENSP00000403259:E432G	ENSP00000299980:E409G	E	-	2	0	AP1G1	70347426	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.665000	0.83852	1.958000	0.56883	0.433000	0.28618	GAA		0.408	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			C	71789925	T	C	71789925	3	2	488	1	0	0	0	0	1	0	0	0	732	1783	62	3	1290	3	AP1G1	16	71789925	Missense_Mutation	SNP	T	TCGA-CJ-4636-01A-02D-1386-10	4902599	71789925	18564828	48	26428											
SLC13A2	9058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26820678	26820678	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr17:26820678G>T	ENST00000314669.5	+	7	1388	c.968G>T	c.(967-969)gGc>gTc	p.G323V	SLC13A2_ENST00000537681.1_Missense_Mutation_p.G252V|SLC13A2_ENST00000444914.3_Missense_Mutation_p.G372V|SLC13A2_ENST00000545060.1_Missense_Mutation_p.G280V	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	323					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AGGCTGCTGGGCCCCATGACC	0.572																																																0													62	56	58					17																	26820678		2203	4300	6503	SO:0001583	missense	9058			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.968G>T	17.37:g.26820678G>T	ENSP00000316202:p.Gly323Val		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858737	0.91433	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.93507	3.425	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.75651	-0.3244	10	0.87932	D	0	-12.9081	17.5447	0.87858	0.0:0.0:1.0:0.0	.	280;372;279;252;323	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	V	323;372;280;279;252	ENSP00000316202:G323V;ENSP00000392411:G372V;ENSP00000441935:G280V;ENSP00000440802:G252V	ENSP00000316202:G323V	G	+	2	0	SLC13A2	23844805	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.146000	0.94640	2.215000	0.71742	0.449000	0.29647	GGC		0.572	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		T	26820678	G	T	26820678	3	4	488	1	0	0	0	0	1	0	0	0	14398	1203	42	4	1141	4	SLC13A2	17	26820678	Missense_Mutation	SNP	G	TCGA-CJ-4636-01A-02D-1386-10		26820678	54374532	49	26429											
SUZ12	23512	hgsc.bcm.edu	37	17	30310080	30310080	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr17:30310080delT	ENST00000322652.5	+	9	1209	c.980delT	c.(979-981)atafs	p.I327fs	SUZ12_ENST00000580398.1_Frame_Shift_Del_p.I304fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	327					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GAATGTCCAATAAGCAAGAAA	0.393			T	JAZF1	endometrial stromal tumours																																		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0													118	114	115					17																	30310080		2203	4298	6501	SO:0001589	frameshift_variant	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.980delT	17.37:g.30310080delT	ENSP00000316578:p.Ile327fs		Q96BD9	Frame_Shift_Del	DEL	ENST00000322652.5	37	CCDS11270.1																																																																																				0.393	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		-	30310080	T	-	30310080	7	5	488	1	0	1	0	1	0	0	0	0	15421	1406	49	0	1014	0	SUZ12	17	30310080	Frame_Shift_Del	DEL	T	TCGA-CJ-4636-01A-02D-1386-10	3489402	30310080	50885130	50	26430											
KRTAP1-1	81851	hgsc.bcm.edu	37	17	39197609	39197609	+	Missense_Mutation	SNP	C	C	A	rs138200823	byFrequency	TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr17:39197609C>A	ENST00000306271.4	-	1	104	c.41G>T	c.(40-42)tGc>tTc	p.C14F		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	14			PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGTGGAGCAGCTGGGAAA	0.597													c|||	498	0.0994409	0.1838	0.1124	5008	,	,		15162	0.1409		0.0169	False		,,,				2504	0.0184															0													45	55	52					17																	39197609		1959	4162	6121	SO:0001583	missense	81851			AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.41G>T	17.37:g.39197609C>A	ENSP00000305975:p.Cys14Phe		A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	CCDS42324.1	108	0.04945054945054945	40	0.08130081300813008	18	0.049723756906077346	44	0.07692307692307693	6	0.0079155672823219	C	10.59	1.391756	0.25118	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.33216	1.42	4.56	2.52	0.30459	.	.	.	.	.	T	0.03136	0.0092	M	0.92604	3.325	0.27968	P	0.9365203	B	0.22146	0.065	B	0.20767	0.031	T	0.41734	-0.9492	8	0.66056	D	0.02	.	11.8299	0.52288	0.3171:0.6829:0.0:0.0	.	14	Q07627	KRA11_HUMAN	F	14	ENSP00000305975:C14F	ENSP00000305975:C14F	C	-	2	0	KRTAP1-1	36451135	0.993000	0.37304	0.993000	0.49108	0.637000	0.38172	0.435000	0.21510	0.840000	0.34995	-0.182000	0.12963	TGC		0.597	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		A	39197609	C	A	39197609	3	1	488	1	0	0	0	0	1	0	0	0	8504	710	25	4	496	4	KRTAP1-1	17	39197609	Missense_Mutation	SNP	C	TCGA-CJ-4636-01A-02D-1386-10	8887529	39197609	41997601	51	26431											
TMC8	147138	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76134202	76134202	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr17:76134202T>A	ENST00000318430.5	+	12	1840	c.1466T>A	c.(1465-1467)cTc>cAc	p.L489H	TMC8_ENST00000589691.1_Missense_Mutation_p.L266H	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	489					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TGGATGGGCCTCTTCTACTGC	0.612																																																0													91	92	92					17																	76134202		2203	4300	6503	SO:0001583	missense	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1466T>A	17.37:g.76134202T>A	ENSP00000325561:p.Leu489His		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905542	0.72868	.	.	ENSG00000167895	ENST00000318430	T	0.65364	-0.15	4.57	4.57	0.56435	.	0.068510	0.56097	D	0.000025	T	0.76870	0.4048	M	0.72118	2.19	0.34112	D	0.663124	D	0.89917	1.0	D	0.85130	0.997	D	0.84823	0.0797	10	0.66056	D	0.02	-34.7634	13.1778	0.59637	0.0:0.0:0.0:1.0	.	489	Q8IU68	TMC8_HUMAN	H	489	ENSP00000325561:L489H	ENSP00000325561:L489H	L	+	2	0	TMC8	73645797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.449000	0.52950	1.814000	0.52955	0.460000	0.39030	CTC		0.612	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			A	76134202	T	A	76134202	3	1	488	1	0	0	0	0	1	0	0	0	15996	1551	54	5	1508	5	TMC8	17	76134202	Missense_Mutation	SNP	T	TCGA-CJ-4636-01A-02D-1386-10	36936593	76134202	5061008	52	26432											
RPTOR	57521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78935234	78935234	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr17:78935234A>C	ENST00000306801.3	+	31	4008	c.3646A>C	c.(3646-3648)Aag>Cag	p.K1216Q	RPTOR_ENST00000544334.2_Missense_Mutation_p.K1058Q|RPTOR_ENST00000575542.1_3'UTR|CTD-2561B21.3_ENST00000571591.1_RNA	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1216					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTGGGTGGTGAAGGCCTCCCT	0.617																																																0													95	55	69					17																	78935234		2162	4204	6366	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3646A>C	17.37:g.78935234A>C	ENSP00000307272:p.Lys1216Gln		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145057	0.77888	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.28666	1.6;1.6	4.27	4.27	0.50696	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	L	0.40543	1.245	0.80722	D	1	D;P	0.61080	0.989;0.828	D;B	0.72625	0.978;0.374	T	0.20438	-1.0275	10	0.32370	T	0.25	.	13.8388	0.63426	1.0:0.0:0.0:0.0	.	1058;1216	F5H7J5;Q8N122	.;RPTOR_HUMAN	Q	1216;1058	ENSP00000307272:K1216Q;ENSP00000442479:K1058Q	ENSP00000307272:K1216Q	K	+	1	0	RPTOR	76549829	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	8.388000	0.90170	1.920000	0.55613	0.482000	0.46254	AAG		0.617	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		C	78935234	A	C	78935234	3	2	488	1	0	0	0	0	1	0	0	0	13671	247	9	5	3768	5	RPTOR	17	78935234	Missense_Mutation	SNP	A	TCGA-CJ-4636-01A-02D-1386-10	2801032	78935234	2259976	53	26433											
SYT4	6860	broad.mit.edu	37	18	40853880	40853880	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr18:40853880C>T	ENST00000255224.3	-	2	882	c.514G>A	c.(514-516)Gtc>Atc	p.V172I	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.V154I	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	172	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTGATATTGACCACAAATGCT	0.443																																					NSCLC(85;81 1419 2855 22820 35912)											0													54	54	54					18																	40853880		2203	4299	6502	SO:0001583	missense	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.514G>A	18.37:g.40853880C>T	ENSP00000255224:p.Val172Ile		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834843	0.91036	.	.	ENSG00000132872	ENST00000255224	T	0.14893	2.47	5.87	5.87	0.94306	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (2);	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	L	0.54965	1.715	0.80722	D	1	P;P	0.51791	0.948;0.948	D;D	0.74674	0.984;0.984	T	0.02958	-1.1089	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	154;172	B4DEU3;Q9H2B2	.;SYT4_HUMAN	I	172	ENSP00000255224:V172I	ENSP00000255224:V172I	V	-	1	0	SYT4	39107878	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.536000	0.82023	2.941000	0.99782	0.655000	0.94253	GTC		0.443	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		T	40853880	C	T	40853880	3	4	488	1	0	0	0	0	1	0	0	0	15481	507	18	2	775	2	SYT4	18	40853880	Missense_Mutation	SNP	C	TCGA-CJ-4636-01A-02D-1386-10		40853880	37223368	54	26434											
NEDD4L	23327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	55992365	55992365	+	Silent	SNP	G	G	A			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr18:55992365G>A	ENST00000400345.3	+	9	934	c.651G>A	c.(649-651)cgG>cgA	p.R217R	NEDD4L_ENST00000382850.4_Silent_p.R217R|NEDD4L_ENST00000586263.1_Silent_p.R209R|NEDD4L_ENST00000357895.5_Silent_p.R209R|NEDD4L_ENST00000431212.2_Silent_p.R96R|NEDD4L_ENST00000456173.2_Silent_p.R96R|NEDD4L_ENST00000256830.9_Silent_p.R217R|NEDD4L_ENST00000435432.2_Silent_p.R96R|NEDD4L_ENST00000356462.6_Silent_p.R217R|NEDD4L_ENST00000456986.1_Silent_p.R96R|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_Silent_p.R96R	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	217	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACAACAACCGGACCACTCAGT	0.542																																																0													176	176	176					18																	55992365		2061	4197	6258	SO:0001819	synonymous_variant	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.651G>A	18.37:g.55992365G>A			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	ENST00000400345.3	37	CCDS45872.1																																																																																				0.542	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			A	55992365	G	A	55992365	2	1	488	1	0	0	0	0	0	0	0	1	10313	1161	41	2		2	NEDD4L	18	55992365	Silent	SNP	G	TCGA-CJ-4636-01A-02D-1386-10	15138485	55992365	22084883	55	26435											
TRIB3	57761	broad.mit.edu	37	20	377225	377225	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr20:377225delC	ENST00000217233.3	+	4	1521	c.968delC	c.(967-969)gccfs	p.A323fs	TRIB3_ENST00000422053.2_Frame_Shift_Del_p.A350fs	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	323					cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		ATGCCCTTAGCCCCAACCCGA	0.642																																					Melanoma(101;421 2374 19538)											0													53	49	50					20																	377225		2198	4294	6492	SO:0001589	frameshift_variant	57761			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.968delC	20.37:g.377225delC	ENSP00000217233:p.Ala323fs		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Frame_Shift_Del	DEL	ENST00000217233.3	37	CCDS12997.1																																																																																				0.642	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		-	377225	C	-	377225	7	5	488	1	0	1	0	1	0	0	0	0	16489	739	26	0	978	0	TRIB3	20	377225	Frame_Shift_Del	DEL	C	TCGA-CJ-4636-01A-02D-1386-10		377225	62648295	56	26436											
MKKS	8195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	10393658	10393658	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chr20:10393658T>C	ENST00000347364.3	-	3	1267	c.505A>G	c.(505-507)Aag>Gag	p.K169E	MKKS_ENST00000399054.2_Missense_Mutation_p.K169E	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	169					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TCTGTTTCCTTTCTGGTGAGC	0.413																																					Melanoma(79;1979 2212 6640)											0													93	89	90					20																	10393658		2203	4300	6503	SO:0001583	missense	8195			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"Heat Shock Proteins / Chaperonins"	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.505A>G	20.37:g.10393658T>C	ENSP00000246062:p.Lys169Glu		A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.325297	0.01309	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.78003	-1.14;-1.14	5.63	-0.644	0.11479	.	0.592358	0.19250	N	0.118948	T	0.54679	0.1873	N	0.17674	0.51	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.34675	-0.9819	10	0.11182	T	0.66	-32.3547	6.1575	0.20346	0.0:0.204:0.2187:0.5773	.	169	Q9NPJ1	MKKS_HUMAN	E	169	ENSP00000246062:K169E;ENSP00000382008:K169E	ENSP00000246062:K169E	K	-	1	0	MKKS	10341658	0.004000	0.15560	0.076000	0.20297	0.009000	0.06853	-0.030000	0.12308	-0.326000	0.08564	-1.499000	0.00960	AAG		0.413	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			C	10393658	T	C	10393658	3	2	488	1	0	0	0	0	1	0	0	0	9602	1850	64	3	1223	3	MKKS	20	10393658	Missense_Mutation	SNP	T	TCGA-CJ-4636-01A-02D-1386-10	10016433	10393658	52631862	57	26437											
KIAA1210	57481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	118219357	118219357	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4636-01A-02D-1386-10	TCGA-CJ-4636-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e5bd693-fb80-426a-bde3-16f33938ea45	769417fc-b475-4126-854a-409b97cdcb2f	g.chrX:118219357G>T	ENST00000402510.2	-	12	4836	c.4837C>A	c.(4837-4839)Cct>Act	p.P1613T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1613										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCATATTTAGGCTCCTTAGTC	0.448																																																0													156	144	148					X																	118219357		1887	4106	5993	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4837C>A	X.37:g.118219357G>T	ENSP00000384670:p.Pro1613Thr		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.76|16.76	3.213001|3.213001	0.58452|0.58452	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.13538	.|2.58	4.21|4.21	2.41|2.41	0.29592|0.29592	.|.	.|.	.|.	.|.	.|.	T|T	0.28665|0.28665	0.0710|0.0710	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.69479	.|0.964	T|T	0.09079|0.09079	-1.0691|-1.0691	5|9	.|0.29301	.|T	.|0.29	.|.	5.913|5.913	0.19039|0.19039	0.2433:0.0:0.7567:0.0|0.2433:0.0:0.7567:0.0	.|.	.|1613	.|Q9ULL0	.|K1210_HUMAN	D|T	1019|1613	.|ENSP00000384670:P1613T	.|ENSP00000384670:P1613T	A|P	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118103385|118103385	0.001000|0.001000	0.12720|0.12720	0.011000|0.011000	0.14972|0.14972	0.804000|0.804000	0.45430|0.45430	-0.115000|-0.115000	0.10741|0.10741	0.523000|0.523000	0.28482|0.28482	0.513000|0.513000	0.50165|0.50165	GCC|CCT		0.448	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		T	118219357	G	T	118219357	3	4	488	1	0	0	0	0	1	0	0	0	8216	1203	42	4	304	4	KIAA1210	23	118219357	Missense_Mutation	SNP	G	TCGA-CJ-4636-01A-02D-1386-10		118219357	37051203	58	26438											
VHL	7428	hgsc.bcm.edu	37	3	10183665	10183665	+	Missense_Mutation	SNP	C	C	T	rs199583685		TCGA-CJ-4636-01A-02W-1382-10	TCGA-CJ-4636-11A-01W-1244-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	c437a272-1a90-4b2d-bf5b-e3602527c210	5b191139-f06e-4add-a934-f6116591658f	g.chr3:10183665C>T	ENST00000256474.2	+	1	974	c.134C>T	c.(133-135)cCg>cTg	p.P45L	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.P45L	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	45	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)			adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GAGTCCGGCCCGGAGGAACTG	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				C|||	1	0.000199681	0.0	0.0	5008	,	,		10527	0.001		0.0	False		,,,				2504	0.0					yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	0																																										SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.134C>T	3.37:g.10183665C>T	ENSP00000256474:p.Pro45Leu		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.59	2.580733	0.46006	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.84298	-1.83;-1.83	3.53	0.582	0.17412	.	1.482540	0.04888	N	0.448902	T	0.73737	0.3625	N	0.19112	0.55	0.09310	N	1	B;B	0.22604	0.072;0.043	B;B	0.19666	0.026;0.012	T	0.61192	-0.7112	10	0.72032	D	0.01	0.0061	2.9019	0.05708	0.1708:0.3546:0.3717:0.1029	.	45;45	P40337-2;P40337	.;VHL_HUMAN	L	45	ENSP00000256474:P45L;ENSP00000344757:P45L	ENSP00000256474:P45L	P	+	2	0	VHL	10158665	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.435000	0.21510	0.107000	0.17824	0.555000	0.69702	CCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183665	C	T	10183665	3	4	489	1	0	0	0	0	1	0	0	0	17167	652	23	1	136	1	VHL	3	10183665	Missense_Mutation	SNP	C	TCGA-CJ-4636-01A-02W-1382-10		10183665	187838765	1	26439											
SPOCD1	90853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32266115	32266115	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr1:32266115A>T	ENST00000360482.2	-	4	1658	c.1529T>A	c.(1528-1530)gTc>gAc	p.V510D	SPOCD1_ENST00000533231.1_Missense_Mutation_p.V510D|SPOCD1_ENST00000257100.3_Missense_Mutation_p.V3D|SPOCD1_ENST00000373648.2_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	510					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.V510D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGGTGAGCTGACCTCCATCAA	0.607																																																1	Substitution - Missense(1)	kidney(1)											41	35	37					1																	32266115		2203	4300	6503	SO:0001583	missense	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1529T>A	1.37:g.32266115A>T	ENSP00000353670:p.Val510Asp		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607814	0.46527	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000533231;ENST00000528791;ENST00000525930	T;T;T	0.57273	0.41;1.42;1.42	4.96	-2.66	0.06077	.	.	.	.	.	T	0.49677	0.1571	N	0.19112	0.55	0.19300	N	0.999978	D;D	0.58268	0.982;0.969	P;P	0.59546	0.859;0.727	T	0.52313	-0.8592	9	0.87932	D	0	-6.0623	10.7012	0.45928	0.4145:0.0:0.5855:0.0	.	510;510	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	D	3;510;510;3;3	ENSP00000257100:V3D;ENSP00000353670:V510D;ENSP00000435851:V510D	ENSP00000257100:V3D	V	-	2	0	SPOCD1	32038702	0.000000	0.05858	0.434000	0.26772	0.448000	0.32197	-0.192000	0.09587	-0.377000	0.07930	-0.263000	0.10527	GTC		0.607	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		T	32266115	A	T	32266115	3	4	490	1	0	0	0	0	1	0	0	0	15083	275	10	5	2173	5	SPOCD1	1	32266115	Missense_Mutation	SNP	A	TCGA-CJ-4637-01A-02D-1386-10		32266115	216984506	1	26440											
ST3GAL3	6487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44386570	44386570	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr1:44386570T>A	ENST00000361392.4	+	11	1185	c.1008T>A	c.(1006-1008)taT>taA	p.Y336*	ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372375.2_Nonsense_Mutation_p.Y390*|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000262915.3_Nonsense_Mutation_p.Y405*|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372372.2_Nonsense_Mutation_p.Y374*|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000351035.3_Nonsense_Mutation_p.Y374*|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000347631.2_Nonsense_Mutation_p.Y351*|ST3GAL3_ENST00000361746.4_Nonsense_Mutation_p.Y405*|ST3GAL3_ENST00000361400.4_Nonsense_Mutation_p.Y320*|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372374.2_Nonsense_Mutation_p.Y305*|ST3GAL3_ENST00000372369.1_Nonsense_Mutation_p.Y306*|ST3GAL3_ENST00000372368.2_Nonsense_Mutation_p.Y390*|ST3GAL3_ENST00000332628.6_Nonsense_Mutation_p.Y305*|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000353126.3_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	336					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.Y405*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TGCACTACTATGAGACCGTTC	0.577																																																1	Substitution - Nonsense(1)	kidney(1)											83	61	68					1																	44386570		2203	4300	6503	SO:0001587	stop_gained	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.1008T>A	1.37:g.44386570T>A	ENSP00000355341:p.Tyr336*		A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Nonsense_Mutation	SNP	ENST00000361392.4	37	CCDS492.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	6.130264|6.130264	0.97310|0.97310	.|.	.|.	ENSG00000126091|ENSG00000126091	ENST00000490502|ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372368;ENST00000372372;ENST00000332628	.|.	.|.	.|.	4.67|4.67	1.96|1.96	0.26148|0.26148	.|.	.|0.135487	.|0.51477	.|D	.|0.000089	T|.	0.27241|.	0.0668|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15578|.	-1.0432|.	4|.	.|0.02654	.|T	.|1	.|.	8.1693|8.1693	0.31245|0.31245	0.0:0.2449:0.0:0.7551|0.0:0.2449:0.0:0.7551	.|.	.|.	.|.	.|.	K|X	135|336;320;405;390;374;305;351;306;405;390;374;305	.|.	.|ENSP00000262915:Y405X	M|Y	+|+	2|3	0|2	ST3GAL3|ST3GAL3	44159157|44159157	0.980000|0.980000	0.34600|0.34600	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.183000|0.183000	0.16919|0.16919	0.735000|0.735000	0.32537|0.32537	0.482000|0.482000	0.46254|0.46254	ATG|TAT		0.577	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		A	44386570	T	A	44386570	4	1	490	1	0	0	0	0	0	1	0	0	15221	1471	51	5	1257	5	ST3GAL3	1	44386570	Nonsense_Mutation	SNP	T	TCGA-CJ-4637-01A-02D-1386-10	12120455	44386570	204864051	2	26441											
CELF3	11189	broad.mit.edu;hgsc.bcm.edu	37	1	151681728	151681728	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr1:151681728G>A	ENST00000290583.4	-	4	1167	c.374C>T	c.(373-375)aCt>aTt	p.T125I	CELF3_ENST00000290585.4_Missense_Mutation_p.T125I|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_5'Flank|AL589765.1_ENST00000442233.2_5'Flank|RP11-98D18.1_ENST00000457548.1_RNA|RIIAD1_ENST00000326413.3_5'Flank	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	125	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.T125I(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCGGAGCACAGTGCACTCGTC	0.612																																																1	Substitution - Missense(1)	kidney(1)											180	171	174					1																	151681728		2203	4300	6503	SO:0001583	missense	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.374C>T	1.37:g.151681728G>A	ENSP00000290583:p.Thr125Ile		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.188051	0.78789	.	.	ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000368833	D;D	0.84516	-1.86;-1.86	4.39	4.39	0.52855	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	L	0.39147	1.195	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.982;1.0;0.984;0.98	D;P;D;P;P	0.85130	0.95;0.864;0.997;0.844;0.758	D	0.88357	0.2985	10	0.72032	D	0.01	-10.1771	14.4846	0.67609	0.0:0.0:1.0:0.0	.	125;125;124;125;124	Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.;.;.;CELF3_HUMAN;.	I	125;125;124	ENSP00000290585:T125I;ENSP00000290583:T125I	ENSP00000290583:T125I	T	-	2	0	CELF3	149948352	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.199000	0.95003	2.265000	0.75225	0.462000	0.41574	ACT		0.612	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		A	151681728	G	A	151681728	3	1	490	1	0	0	0	0	1	0	0	0	3219	1029	36	2	1059	2	CELF3	1	151681728	Missense_Mutation	SNP	G	TCGA-CJ-4637-01A-02D-1386-10	107295158	151681728	97568893	3	26442											
RRM2	6241	hgsc.bcm.edu	37	2	10262859	10262859	+	5'UTR	SNP	G	G	A	rs72542787	byFrequency	TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr2:10262859G>A	ENST00000304567.5	+	0	3				RRM2_ENST00000360566.2_Silent_p.G38G|RP11-254F7.4_ENST00000607140.1_lincRNA	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2						deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	GGAGTGAGGGGTCGCCCGTGC	0.682													G|||	204	0.0407348	0.0265	0.0418	5008	,	,		12237	0.001		0.0875	False		,,,				2504	0.0521															0								G		49,1335		1,47,644	27	48	42		114	-4.5	0	2	dbSNP_130	42	325,2855		15,295,1280	no	coding-synonymous	RRM2	NM_001165931.1		16,342,1924	AA,AG,GG		10.2201,3.5405,8.1946		38/450	10262859	374,4190	692	1590	2282	SO:0001623	5_prime_UTR_variant	6241				CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"ribonucleotide reductase M2 polypeptide"				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.-67G>A	2.37:g.10262859G>A			B2R9B5|J3KP43|Q5WRU7	Silent	SNP	ENST00000304567.5	37	CCDS1669.1																																																																																				0.682	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			A	10262859	G	A	10262859	1	1	490	0	1	0	0	0	0	0	0	0	13688	1248	44	2		2	RRM2	2	10262859	5'UTR	SNP	G	TCGA-CJ-4637-01A-02D-1386-10		10262859	232936514	4	26443											
MFSD9	84804	hgsc.bcm.edu	37	2	103353153	103353153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr2:103353153delG	ENST00000258436.5	-	1	160	c.117delC	c.(115-117)gccfs	p.A39fs	TMEM182_ENST00000409528.1_5'Flank|TMEM182_ENST00000409173.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	39					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GGGCTCCGACGGCACCGGAGT	0.657																																																0										0,4262		0,0,2131	33	39	37			-2.3	0	2		37	1,8243		0,1,4121	no	frameshift	MFSD9	NM_032718.3		0,1,6252	A1A1,A1R,RR		0.0121,0.0,0.0080			103353153	1,12505	2203	4300	6503	SO:0001589	frameshift_variant	84804				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.117delC	2.37:g.103353153delG	ENSP00000258436:p.Ala39fs		Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Frame_Shift_Del	DEL	ENST00000258436.5	37	CCDS2063.1																																																																																				0.657	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		-	103353153	G	-	103353153	7	5	490	1	0	1	0	1	0	0	0	0	9541	1103	39	0	1331	0	MFSD9	2	103353153	Frame_Shift_Del	DEL	G	TCGA-CJ-4637-01A-02D-1386-10	93090294	103353153	139846220	5	26444											
ORC4L	5000	hgsc.bcm.edu;ucsc.edu	37	2	148695897	148695897	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr2:148695897C>G	ENST00000392857.5	-	12	1131	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	ORC4_ENST00000488761.1_5'Flank|ORC4_ENST00000536575.1_Missense_Mutation_p.E258Q|AC009480.1_ENST00000584553.1_RNA|ORC4_ENST00000392858.1_Missense_Mutation_p.E342Q|ORC4_ENST00000540442.1_Missense_Mutation_p.E268Q|ORC4_ENST00000542387.1_Missense_Mutation_p.E125Q|ORC4_ENST00000535373.1_Missense_Mutation_p.E342Q|ORC4_ENST00000264169.2_Missense_Mutation_p.E342Q	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	342					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TTAAATGGCTCTTCCTCATAG	0.318																																																0													68	77	74					2																	148695897		2200	4298	6498	SO:0001583	missense	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"ATPases / AAA-type"	8490	protein-coding gene	gene with protein product		603056	"origin recognition complex, subunit 4 (yeast homolog)-like", "origin recognition complex, subunit 4-like (yeast)", "origin recognition complex, subunit 4-like (S. cerevisiae)", "origin recognition complex, subunit 4 homolog (S. cerevisiae)"	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.1024G>C	2.37:g.148695897C>G	ENSP00000376597:p.Glu342Gln		B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	37	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352267	0.61183	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	L	0.48362	1.52	0.80722	D	1	P;B	0.36392	0.551;0.307	B;B	0.28011	0.085;0.055	T	0.66384	-0.5937	10	0.33141	T	0.24	-14.2119	20.3812	0.98933	0.0:1.0:0.0:0.0	.	342;342	B7Z2M4;O43929	.;ORC4_HUMAN	Q	342;342;342;268;258;342;125	ENSP00000264169:E342Q;ENSP00000441953:E342Q;ENSP00000376598:E342Q;ENSP00000438326:E268Q;ENSP00000441502:E258Q;ENSP00000376597:E342Q;ENSP00000437440:E125Q	ENSP00000264169:E342Q	E	-	1	0	ORC4	148412367	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.281000	0.78621	2.821000	0.97095	0.650000	0.86243	GAG		0.318	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		G	148695897	C	G	148695897	3	3	490	1	0	0	0	0	1	0	0	0	11266	922	32	4	298	4	ORC4L	2	148695897	Missense_Mutation	SNP	C	TCGA-CJ-4637-01A-02D-1386-10	45342744	148695897	94503476	6	26445											
CXCR2	3579	broad.mit.edu;ucsc.edu	37	2	218999551	218999551	+	Silent	SNP	C	C	T			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr2:218999551C>T	ENST00000318507.2	+	3	454	c.27C>T	c.(25-27)gaC>gaT	p.D9D		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	9					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.D9D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGGAGAGTGACAGCTTTGAAG	0.388																																																1	Substitution - coding silent(1)	kidney(1)											78	75	76					2																	218999551		2203	4300	6503	SO:0001819	synonymous_variant	3579			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.27C>T	2.37:g.218999551C>T			Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	CCDS2408.1																																																																																				0.388	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		T	218999551	C	T	218999551	2	4	490	1	0	0	0	0	0	0	0	1	4093	477	17	2		2	CXCR2	2	218999551	Silent	SNP	C	TCGA-CJ-4637-01A-02D-1386-10	70303654	218999551	24199822	7	26446											
C2orf83	56918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228497787	228497787	+	Silent	SNP	G	G	A			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr2:228497787G>A	ENST00000264387.4	-	1	101	c.15C>T	c.(13-15)gcC>gcT	p.A5A	C2orf83_ENST00000409066.1_Silent_p.A5A	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	5					transport (GO:0006810)	membrane (GO:0016020)		p.A5A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CAAACGTCAGGGCATAGTCTT	0.418																																																1	Substitution - coding silent(1)	kidney(1)											129	103	112					2																	228497787		2203	4300	6503	SO:0001819	synonymous_variant	56918				CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.15C>T	2.37:g.228497787G>A			A2RRG6|B8ZZI8|Q9NPW4	Silent	SNP	ENST00000264387.4	37	CCDS33388.1																																																																																				0.418	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		A	228497787	G	A	228497787	2	1	490	1	0	0	0	0	0	0	0	1	2200	1219	43	2		2	C2orf83	2	228497787	Silent	SNP	G	TCGA-CJ-4637-01A-02D-1386-10	9498236	228497787	14701586	8	26447											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188204	10188204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr3:10188204delT	ENST00000256474.2	+	2	1187	c.347delT	c.(346-348)cttfs	p.L116fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)|p.W117fs*14(2)|p.H115fs*15(1)|p.W117fs*42(1)|p.H115fs*41(1)|p.H115fs*42(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATAGGTCACCTTTGGCTCTTC	0.527		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Deletion - Frameshift(6)|Unknown(2)	kidney(8)											173	161	165					3																	10188204		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.347delT	3.37:g.10188204delT	ENSP00000256474:p.Leu116fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188204	T	-	10188204	7	5	490	1	0	1	0	1	0	0	0	0	17167	1609	56	0	353	0	VHL	3	10188204	Frame_Shift_Del	DEL	T	TCGA-CJ-4637-01A-02D-1386-10		10188204	187834226	9	26448											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52442512	52442512	+	5'Flank	SNP	T	T	C			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr3:52442512T>C	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Missense_Mutation_p.N78S|BAP1_ENST00000296288.5_Missense_Mutation_p.N78S|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.N78S(2)|p.I72fs*7(1)|p.I76fs*45(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GAACATGTTATTCACAATATC	0.488																																																4	Substitution - Missense(2)|Deletion - Frameshift(2)	kidney(2)|eye(1)|pleura(1)											63	53	56					3																	52442512		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442512T>C	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931031	0.73327	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.090448	0.85682	D	0.000000	T	0.41926	0.1180	N	0.25031	0.7	0.80722	D	1	P	0.41978	0.767	P	0.49361	0.608	T	0.30909	-0.9962	10	0.42905	T	0.14	-2.8537	15.6492	0.77078	0.0:0.0:0.0:1.0	.	78	Q92560	BAP1_HUMAN	S	78	ENSP00000417132:N78S;ENSP00000296288:N78S	ENSP00000296288:N78S	N	-	2	0	BAP1	52417552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	2.106000	0.64143	0.533000	0.62120	AAT		0.488	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		C	52442512	T	C	52442512	1	2	490	0	1	0	0	0	0	0	0	0	1311	1493	52	3		3	BAP1	3	52442512	5'Flank	SNP	T	TCGA-CJ-4637-01A-02D-1386-10	42254308	52442512	145579918	10	26449											
WDR52	55779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113127995	113127995	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr3:113127995T>G	ENST00000295868.2	-	7	1010	c.848A>C	c.(847-849)gAt>gCt	p.D283A	WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.D283A	NM_018338.3	NP_060808.2												p.D283A(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTCTTCCTTATCAGGATTGAA	0.413																																																1	Substitution - Missense(1)	kidney(1)											111	110	110					3																	113127995		2203	4300	6503	SO:0001583	missense	55779																														ENST00000295868.2:c.848A>C	3.37:g.113127995T>G	ENSP00000295868:p.Asp283Ala			Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.985325	0.53934	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.71698	-0.59;2.89	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.67268	0.2875	M	0.68317	2.08	0.80722	D	1	B	0.31910	0.346	B	0.25140	0.058	T	0.65269	-0.6209	9	0.25751	T	0.34	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	283	Q96MT7	WDR52_HUMAN	A	283	ENSP00000377428:D283A;ENSP00000295868:D283A	ENSP00000295868:D283A	D	-	2	0	WDR52	114610685	1.000000	0.71417	0.941000	0.38009	0.834000	0.47266	5.629000	0.67798	2.210000	0.71456	0.460000	0.39030	GAT		0.413	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			G	113127995	T	G	113127995	3	3	490	1	0	0	0	0	1	0	0	0	17309	1435	50	5	4847	5	WDR52	3	113127995	Missense_Mutation	SNP	T	TCGA-CJ-4637-01A-02D-1386-10	60685483	113127995	84894435	11	26450											
ADCY5	111	broad.mit.edu	37	3	123049743	123049743	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr3:123049743C>T	ENST00000462833.1	-	5	2851	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	ADCY5_ENST00000491190.1_Missense_Mutation_p.A180T|ADCY5_ENST00000309879.5_Missense_Mutation_p.A197T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	547	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.A547T(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TACGAGATGGCCTCGATCATG	0.612																																																1	Substitution - Missense(1)	kidney(1)											89	74	79					3																	123049743		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1639G>A	3.37:g.123049743C>T	ENSP00000419361:p.Ala547Thr		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678801	0.96764	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.85314	0.5668	L	0.49699	1.58	0.80722	D	1	D;P	0.59767	0.986;0.91	P;P	0.57371	0.716;0.819	T	0.82629	-0.0363	10	0.33141	T	0.24	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	547;180	O95622;B3KWA8	ADCY5_HUMAN;.	T	547;180;197;106	ENSP00000419361:A547T;ENSP00000418537:A180T;ENSP00000308685:A197T;ENSP00000420082:A106T	ENSP00000308685:A197T	A	-	1	0	ADCY5	124532433	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.729000	0.93468	0.650000	0.86243	GCC		0.612	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		T	123049743	C	T	123049743	3	4	490	1	0	0	0	0	1	0	0	0	297	739	26	2	2214	2	ADCY5	3	123049743	Missense_Mutation	SNP	C	TCGA-CJ-4637-01A-02D-1386-10	9921748	123049743	74972687	12	26451											
ITGA1	3672	broad.mit.edu;ucsc.edu	37	5	52145320	52145320	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr5:52145320G>T	ENST00000282588.6	+	2	640		c.e2+1			NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1						activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.?(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAGGAAAATGGTAAGCCAGTG	0.318																																																1	Unknown(1)	kidney(1)											96	97	96					5																	52145320		2203	4300	6503	SO:0001630	splice_region_variant	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.182+1G>T	5.37:g.52145320G>T			B2RNU0	Splice_Site	SNP	ENST00000282588.6	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158652	0.78226	.	.	ENSG00000213949	ENST00000282588	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.314	0.94204	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA1	52181077	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	8.318000	0.89990	2.932000	0.99384	0.644000	0.83932	.		0.318	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	Intron	T	52145320	G	T	52145320	5	4	490	1	0	0	0	0	0	0	1	0	7874	1275	44	4	189	4	ITGA1	5	52145320	Splice_Site	SNP	G	TCGA-CJ-4637-01A-02D-1386-10		52145320	128769940	13	26452											
ENC1	8507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	73931537	73931537	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr5:73931537C>G	ENST00000302351.4	-	2	1904	c.774G>C	c.(772-774)aaG>aaC	p.K258N	ENC1_ENST00000510316.1_Missense_Mutation_p.K185N|ENC1_ENST00000537006.1_Missense_Mutation_p.K258N	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	258					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.K258N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCTTTCTCTGCTTGGTGATGA	0.512																																																1	Substitution - Missense(1)	kidney(1)											80	91	87					5																	73931537		2203	4300	6503	SO:0001583	missense	8507			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.774G>C	5.37:g.73931537C>G	ENSP00000306356:p.Lys258Asn		B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	C	9.682	1.149491	0.21288	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.71341	-0.55;-0.56;-0.55	6.04	3.96	0.45880	.	0.146864	0.64402	D	0.000010	T	0.46014	0.1371	N	0.08118	0	0.47441	D	0.999422	B	0.02656	0.0	B	0.04013	0.001	T	0.36212	-0.9757	10	0.09590	T	0.72	.	11.4841	0.50344	0.0:0.7902:0.0:0.2098	.	258	O14682	ENC1_HUMAN	N	258;185;258	ENSP00000306356:K258N;ENSP00000423804:K185N;ENSP00000446289:K258N	ENSP00000306356:K258N	K	-	3	2	ENC1	73967293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.779000	0.26746	1.568000	0.49683	0.561000	0.74099	AAG		0.512	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		G	73931537	C	G	73931537	3	3	490	1	0	0	0	0	1	0	0	0	5115	796	28	4	999	4	ENC1	5	73931537	Missense_Mutation	SNP	C	TCGA-CJ-4637-01A-02D-1386-10	21786217	73931537	106983723	14	26453											
PCDHGA3	56112	broad.mit.edu	37	5	140725547	140725547	+	Silent	SNP	C	C	T	rs544633115	byFrequency	TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr5:140725547C>T	ENST00000253812.6	+	1	1947	c.1947C>T	c.(1945-1947)caC>caT	p.H649H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	649	Cadherin 6. {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)	p.H649H(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGACCACGGCCAGCCCC	0.711													.|||	8	0.00159744	0.0053	0.0	5008	,	,		14827	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											12	19	17					5																	140725547		2129	4231	6360	SO:0001819	synonymous_variant	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1947C>T	5.37:g.140725547C>T			Q9Y5D4	Silent	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																				0.711	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		T	140725547	C	T	140725547	2	4	490	1	0	0	0	0	0	0	0	1	11557	535	19	1		1	PCDHGA3	5	140725547	Silent	SNP	C	TCGA-CJ-4637-01A-02D-1386-10	66794010	140725547	40189713	15	26454											
CLK4	57396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178050273	178050273	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr5:178050273A>G	ENST00000316308.4	-	2	313	c.145T>C	c.(145-147)Ttt>Ctt	p.F49L	CLK4_ENST00000520957.1_Missense_Mutation_p.F49L	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	49					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.F49L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		GATTCTTTAAACTGGTGATGT	0.368																																																2	Substitution - Missense(2)	kidney(2)											229	212	218					5																	178050273		2203	4300	6503	SO:0001583	missense	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.145T>C	5.37:g.178050273A>G	ENSP00000316948:p.Phe49Leu			Missense_Mutation	SNP	ENST00000316308.4	37	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254303	0.59212	.	.	ENSG00000113240	ENST00000316308;ENST00000536763;ENST00000520957	T	0.06528	3.29	5.83	3.45	0.39498	.	0.515646	0.20802	N	0.085417	T	0.01870	0.0059	N	0.01048	-1.04	0.26457	N	0.975504	B;B;B;B;B	0.12013	0.005;0.0;0.001;0.0;0.002	B;B;B;B;B	0.08055	0.002;0.0;0.003;0.001;0.001	T	0.46456	-0.9190	10	0.11485	T	0.65	.	7.4904	0.27458	0.8304:0.0:0.1696:0.0	.	49;49;49;49;49	B7Z990;B7ZL31;E7EWJ6;Q4G0Z5;Q9HAZ1	.;.;.;.;CLK4_HUMAN	L	49	ENSP00000316948:F49L	ENSP00000316948:F49L	F	-	1	0	CLK4	177982879	0.999000	0.42202	1.000000	0.80357	0.919000	0.55068	1.392000	0.34486	0.479000	0.27511	0.402000	0.26972	TTT		0.368	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			G	178050273	A	G	178050273	3	3	490	1	0	0	0	0	1	0	0	0	3541	43	2	3	1348	3	CLK4	5	178050273	Missense_Mutation	SNP	A	TCGA-CJ-4637-01A-02D-1386-10	37324726	178050273	2864987	16	26455											
C6orf70	55780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	170179296	170179296	+	Silent	SNP	T	T	A	rs79095717		TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr6:170179296T>A	ENST00000366773.3	+	17	1791	c.1758T>A	c.(1756-1758)ccT>ccA	p.P586P	ERMARD_ENST00000392095.4_Silent_p.P460P|ERMARD_ENST00000418781.3_Silent_p.P513P|ERMARD_ENST00000366772.2_Silent_p.P539P|ERMARD_ENST00000588451.1_Silent_p.P450P	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	586					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.P586P(1)									TACTGTCCCCTGTGCTCAGCC	0.393																																																1	Substitution - coding silent(1)	kidney(1)											204	172	182					6																	170179296		2203	4300	6503	SO:0001819	synonymous_variant	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1758T>A	6.37:g.170179296T>A			B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	CCDS34576.1																																																																																				0.393	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		A	170179296	T	A	170179296	2	1	490	1	0	0	0	0	0	0	0	1	2372	1567	55	5		5	C6orf70	6	170179296	Silent	SNP	T	TCGA-CJ-4637-01A-02D-1386-10		170179296	935771	17	26456											
EPPK1	83481	hgsc.bcm.edu	37	8	144940506	144940506	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr8:144940506C>T	ENST00000525985.1	-	2	6987	c.6916G>A	c.(6916-6918)Gcc>Acc	p.A2306T				P58107	EPIPL_HUMAN	epiplakin 1	2306						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGGTGACGGCGCGCTCGGCC	0.697																																																0													140	138	139					8																	144940506		2183	4261	6444	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6916G>A	8.37:g.144940506C>T	ENSP00000436337:p.Ala2306Thr		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	33	5.255137	0.95336	.	.	ENSG00000227184	ENST00000525985	T	0.72505	-0.66	4.63	4.63	0.57726	.	.	.	.	.	D	0.83885	0.5351	M	0.81802	2.56	0.46901	D	0.999247	D	0.89917	1.0	D	0.97110	1.0	D	0.84928	0.0858	9	0.48119	T	0.1	.	15.1031	0.72299	0.0:1.0:0.0:0.0	.	2306	E9PPU0	.	T	2306	ENSP00000436337:A2306T	ENSP00000436337:A2306T	A	-	1	0	EPPK1	145012494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.755000	0.62198	2.416000	0.81992	0.586000	0.80456	GCC		0.697	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144940506	C	T	144940506	3	4	490	1	0	0	0	0	1	0	0	0	5192	768	27	1	350	1	EPPK1	8	144940506	Missense_Mutation	SNP	C	TCGA-CJ-4637-01A-02D-1386-10		144940506	1423516	18	26457											
VCP	7415	broad.mit.edu;ucsc.edu	37	9	35068351	35068351	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr9:35068351C>A	ENST00000358901.6	-	2	921	c.26G>T	c.(25-27)gGt>gTt	p.G9V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	9					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.G9V(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TAGGTCATCACCTTTTGAACT	0.448																																																1	Substitution - Missense(1)	kidney(1)											205	187	193					9																	35068351		2203	4300	6503	SO:0001583	missense	7415			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.26G>T	9.37:g.35068351C>A	ENSP00000351777:p.Gly9Val		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295742	0.40594	.	.	ENSG00000165280	ENST00000358901	D	0.94232	-3.38	6.06	5.14	0.70334	.	0.171224	0.51477	D	0.000088	D	0.88127	0.6353	N	0.22421	0.69	0.80722	D	1	B	0.20368	0.044	B	0.20184	0.028	T	0.83285	-0.0036	10	0.35671	T	0.21	-6.2354	15.0745	0.72066	0.0:0.7958:0.2041:0.0	.	9	P55072	TERA_HUMAN	V	9	ENSP00000351777:G9V	ENSP00000351777:G9V	G	-	2	0	VCP	35058351	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.664000	0.46783	2.882000	0.98803	0.655000	0.94253	GGT		0.448	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		A	35068351	C	A	35068351	3	1	490	1	0	0	0	0	1	0	0	0	17145	507	18	4	2458	4	VCP	9	35068351	Missense_Mutation	SNP	C	TCGA-CJ-4637-01A-02D-1386-10		35068351	106145080	19	26458											
KLF9	687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	73027946	73027946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr9:73027946C>A	ENST00000377126.2	-	1	1594	c.334G>T	c.(334-336)Gag>Tag	p.E112*		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	112	Asp/Glu-rich (acidic).				cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E112*(1)		endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTCTCTCCTCCGGGCTGTGG	0.627																																																1	Substitution - Nonsense(1)	kidney(1)											107	102	104					9																	73027946		2203	4300	6503	SO:0001587	stop_gained	687			BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	1123	protein-coding gene	gene with protein product		602902	"basic transcription element binding protein 1"	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.334G>T	9.37:g.73027946C>A	ENSP00000366330:p.Glu112*		B2R943|Q16196	Nonsense_Mutation	SNP	ENST00000377126.2	37	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	C	48	14.745859	0.99808	.	.	ENSG00000119138	ENST00000377126	.	.	.	4.85	4.85	0.62838	.	0.097710	0.42682	D	0.000674	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	16.7593	0.85507	0.0:1.0:0.0:0.0	.	.	.	.	X	112	.	ENSP00000366330:E112X	E	-	1	0	KLF9	72217766	0.866000	0.29940	0.993000	0.49108	0.984000	0.73092	2.647000	0.46639	2.250000	0.74265	0.557000	0.71058	GAG		0.627	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		A	73027946	C	A	73027946	4	1	490	1	0	0	0	0	0	1	0	0	8355	864	30	4	408	4	KLF9	9	73027946	Nonsense_Mutation	SNP	C	TCGA-CJ-4637-01A-02D-1386-10	37959595	73027946	68185485	20	26459											
PRUNE2	158471	broad.mit.edu	37	9	79469063	79469063	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr9:79469063T>C	ENST00000376718.3	-	2	221	c.98A>G	c.(97-99)gAt>gGt	p.D33G	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.D33G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	33					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.D33G(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATGAGAGAATCCAAGTCACA	0.353																																																2	Substitution - Missense(2)	kidney(2)											121	106	111					9																	79469063		2203	4300	6503	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.98A>G	9.37:g.79469063T>C	ENSP00000365908:p.Asp33Gly		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735035	0.69189	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.16897	2.31;2.31	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.31081	-0.9956	10	0.87932	D	0	.	15.7343	0.77831	0.0:0.0:0.0:1.0	.	33;33	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	G	33;32;33	ENSP00000365908:D33G;ENSP00000365903:D33G	ENSP00000365903:D33G	D	-	2	0	PRUNE2	78658883	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	5.203000	0.65174	2.115000	0.64714	0.533000	0.62120	GAT		0.353	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79469063	T	C	79469063	3	2	490	1	0	0	0	0	1	0	0	0	12646	1435	50	3	9240	3	PRUNE2	9	79469063	Missense_Mutation	SNP	T	TCGA-CJ-4637-01A-02D-1386-10	6441117	79469063	61744368	21	26460											
PCDH15	65217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	55700700	55700700	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr10:55700700G>A	ENST00000320301.6	-	24	3552	c.3158C>T	c.(3157-3159)aCc>aTc	p.T1053I	PCDH15_ENST00000395433.1_Missense_Mutation_p.T1031I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1053I|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1060I|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1053I|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1016I|PCDH15_ENST00000409834.1_Missense_Mutation_p.T664I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.T1060I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.T1058I|PCDH15_ENST00000437009.1_Missense_Mutation_p.T982I|PCDH15_ENST00000395438.1_Missense_Mutation_p.T1053I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1053	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T1053I(2)|p.T1058I(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCAACCATGGTCCCTTTGGT	0.358										HNSCC(58;0.16)																																						4	Substitution - Missense(4)	kidney(4)											100	97	98					10																	55700700		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3158C>T	10.37:g.55700700G>A	ENSP00000322604:p.Thr1053Ile		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915937	0.52546	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.37	5.37	0.77165	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.78572	0.4304	M	0.91663	3.23	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.992;0.997;0.999;0.997;0.997;0.997;0.992;0.985;0.997;0.998;0.99;0.985;0.999	T	0.83306	-0.0025	9	0.87932	D	0	.	16.3821	0.83472	0.0:0.0:1.0:0.0	.	1031;1053;1053;1058;982;1016;1053;1053;1060;1060;1053;1058;1053	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	I	1060;1058;1053;1053;664;1060;1016;1053;1031;1053;1053;1058;982	ENSP00000363076:T1060I;ENSP00000410304:T1058I;ENSP00000378826:T1053I;ENSP00000386693:T664I;ENSP00000378832:T1060I;ENSP00000378820:T1016I;ENSP00000354950:T1053I;ENSP00000378821:T1031I;ENSP00000322604:T1053I;ENSP00000378818:T1053I;ENSP00000412628:T982I	ENSP00000322604:T1053I	T	-	2	0	PCDH15	55370706	1.000000	0.71417	0.544000	0.28141	0.025000	0.11179	6.882000	0.75589	2.671000	0.90904	0.585000	0.79938	ACC		0.358	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		A	55700700	G	A	55700700	3	1	490	1	0	0	0	0	1	0	0	0	11513	1261	44	2	4368	2	PCDH15	10	55700700	Missense_Mutation	SNP	G	TCGA-CJ-4637-01A-02D-1386-10		55700700	79834047	22	26461											
GRID1	2894	broad.mit.edu;ucsc.edu	37	10	87628903	87628903	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr10:87628903T>G	ENST00000327946.7	-	6	900	c.815A>C	c.(814-816)cAt>cCt	p.H272P		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	272					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.H272P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AAGGGCACTATGGACCAGATC	0.507										Multiple Myeloma(13;0.14)																																						1	Substitution - Missense(1)	kidney(1)											152	132	139					10																	87628903		2203	4300	6503	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.815A>C	10.37:g.87628903T>G	ENSP00000330148:p.His272Pro		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814772	0.70912	.	.	ENSG00000182771	ENST00000327946	D	0.82255	-1.59	5.82	5.82	0.92795	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	D	0.89901	0.4044	10	0.72032	D	0.01	.	15.3729	0.74581	0.0:0.0:0.0:1.0	.	272	Q9ULK0	GRID1_HUMAN	P	272	ENSP00000330148:H272P	ENSP00000330148:H272P	H	-	2	0	GRID1	87618883	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.274000	0.72587	2.216000	0.71823	0.533000	0.62120	CAT		0.507	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		G	87628903	T	G	87628903	3	3	490	1	0	0	0	0	1	0	0	0	6773	1464	51	5	2258	5	GRID1	10	87628903	Missense_Mutation	SNP	T	TCGA-CJ-4637-01A-02D-1386-10	31928203	87628903	47905844	23	26462											
RASGRP2	10235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64503123	64503123	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr11:64503123G>A	ENST00000354024.3	-	11	1439	c.1187C>T	c.(1186-1188)aCg>aTg	p.T396M	RASGRP2_ENST00000377497.3_Missense_Mutation_p.T396M|RASGRP2_ENST00000377494.1_Missense_Mutation_p.T396M|RASGRP2_ENST00000394432.3_Missense_Mutation_p.T396M	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	396					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.T458M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTGCAACTCGTGGGGCTGGT	0.662																																																1	Substitution - Missense(1)	kidney(1)											29	31	30					11																	64503123		2200	4296	6496	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1187C>T	11.37:g.64503123G>A	ENSP00000338864:p.Thr396Met		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695665	0.48202	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.83	2.93	0.34026	Ras guanine nucleotide exchange factor, domain (1);	0.760869	0.12616	N	0.453424	T	0.27205	0.0667	L	0.27053	0.805	0.80722	D	1	P;P	0.43633	0.63;0.813	B;B	0.33568	0.081;0.166	T	0.02983	-1.1086	10	0.37606	T	0.19	-21.3443	5.0129	0.14321	0.1803:0.0:0.6546:0.165	.	396;396	Q7LDG7;A6NDC7	GRP2_HUMAN;.	M	396	ENSP00000366714:T396M;ENSP00000377953:T396M;ENSP00000366717:T396M;ENSP00000338864:T396M	ENSP00000338864:T396M	T	-	2	0	RASGRP2	64259699	0.128000	0.22383	0.485000	0.27403	0.742000	0.42306	0.559000	0.23485	0.559000	0.29153	0.561000	0.74099	ACG		0.662	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		A	64503123	G	A	64503123	3	1	490	1	0	0	0	0	1	0	0	0	13081	1145	40	1	666	1	RASGRP2	11	64503123	Missense_Mutation	SNP	G	TCGA-CJ-4637-01A-02D-1386-10		64503123	70503393	24	26463											
LTBR	4055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6495606	6495606	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr12:6495606G>T	ENST00000228918.4	+	6	989	c.663G>T	c.(661-663)atG>atT	p.M221I	LTBR_ENST00000541102.1_Missense_Mutation_p.M114I|LTBR_ENST00000543190.1_3'UTR|LTBR_ENST00000539925.1_Missense_Mutation_p.M202I	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	221					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.M221I(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CCCCAGAGATGTCAGGTGAGG	0.547																																																1	Substitution - Missense(1)	kidney(1)											45	44	44					12																	6495606		2203	4300	6503	SO:0001583	missense	4055			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.663G>T	12.37:g.6495606G>T	ENSP00000228918:p.Met221Ile		B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024228	0.19433	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000536876;ENST00000541102	D;D;D;T	0.89196	-2.1;-2.1;-2.48;-0.16	4.4	4.4	0.53042	.	2.378430	0.01614	N	0.022682	D	0.86029	0.5835	L	0.51422	1.61	0.25676	N	0.985844	P;B;B	0.36535	0.557;0.421;0.421	B;B;B	0.28139	0.086;0.039;0.039	T	0.72070	-0.4401	10	0.22109	T	0.4	-0.0138	12.3627	0.55213	0.0:0.0:1.0:0.0	.	202;202;221	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	I	202;221;114;216;114	ENSP00000440875:M202I;ENSP00000228918:M221I;ENSP00000437647:M216I;ENSP00000438605:M114I	ENSP00000228918:M221I	M	+	3	0	LTBR	6365867	0.977000	0.34250	0.988000	0.46212	0.055000	0.15305	1.204000	0.32296	2.290000	0.77057	0.561000	0.74099	ATG		0.547	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			T	6495606	G	T	6495606	3	4	490	1	0	0	0	0	1	0	0	0	9079	1377	48	4	685	4	LTBR	12	6495606	Missense_Mutation	SNP	G	TCGA-CJ-4637-01A-02D-1386-10		6495606	127356289	25	26464											
ARHGAP9	64333	broad.mit.edu;hgsc.bcm.edu	37	12	57871324	57871324	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr12:57871324G>T	ENST00000356411.2	-	4	812	c.674C>A	c.(673-675)cCc>cAc	p.P225H	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P41H|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P304H|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.P296H|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P225H|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P225H			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	225	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.P225H(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCAGAGTTGGGGTCCAGGTG	0.642																																																1	Substitution - Missense(1)	kidney(1)											47	54	52					12																	57871324		2203	4300	6503	SO:0001583	missense	64333			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.674C>A	12.37:g.57871324G>T	ENSP00000348782:p.Pro225His		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37		.	.	.	.	.	.	.	.	.	.	G	12.94	2.088981	0.36855	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066;ENST00000549602	T;T;T;T;T;T;T;T;T;D	0.83837	-1.13;-1.13;-1.13;-1.13;-1.13;0.87;0.87;0.87;0.87;-1.77	3.58	-0.0701	0.13748	WW/Rsp5/WWP (2);	0.362787	0.25500	N	0.030245	T	0.70710	0.3255	L	0.45352	1.415	0.27428	N	0.954084	B;B;B;B;B;B	0.20368	0.044;0.014;0.002;0.013;0.002;0.0	B;B;B;B;B;B	0.20384	0.029;0.013;0.002;0.018;0.003;0.0	T	0.59825	-0.7381	10	0.54805	T	0.06	.	2.6672	0.05056	0.3236:0.0:0.465:0.2114	.	225;304;225;225;225;41	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	H	225;225;225;296;274;41;41;41;78;41;41	ENSP00000377380:P225H;ENSP00000348782:P225H;ENSP00000394307:P225H;ENSP00000377386:P296H;ENSP00000397950:P41H;ENSP00000449829:P41H;ENSP00000450256:P41H;ENSP00000446932:P78H;ENSP00000448424:P41H;ENSP00000450223:P41H	ENSP00000344852:P274H	P	-	2	0	ARHGAP9	56157591	0.256000	0.24012	0.898000	0.35279	0.997000	0.91878	0.321000	0.19558	-0.021000	0.14009	0.655000	0.94253	CCC		0.642	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		T	57871324	G	T	57871324	3	4	490	1	0	0	0	0	1	0	0	0	889	1232	43	4	1581	4	ARHGAP9	12	57871324	Missense_Mutation	SNP	G	TCGA-CJ-4637-01A-02D-1386-10	51375718	57871324	75980571	26	26465											
IGDCC4	57722	hgsc.bcm.edu	37	15	65681661	65681662	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr15:65681661_65681662insC	ENST00000352385.2	-	14	2705_2706	c.2496_2497insG	c.(2494-2499)gggcctfs	p.P833fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	833	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAGCCGAAAGGCCCATCCATGT	0.579																																																0																																										SO:0001589	frameshift_variant	57722				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2497dupG	15.37:g.65681664_65681664dupC	ENSP00000319623:p.Pro833fs		Q9HCE4	Frame_Shift_Ins	INS	ENST00000352385.2	37	CCDS10206.1																																																																																				0.579	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		C	65681662	-	C	65681661	7	5	490	1	0	1	1	0	0	0	0	0	7571	1203	42	0	1283	0	IGDCC4	15	65681661	Frame_Shift_Ins	INS	-	TCGA-CJ-4637-01A-02D-1386-10		65681661	36849731	27	26466											
C16orf88	400506	broad.mit.edu;ucsc.edu	37	16	19718398	19718398	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr16:19718398A>G	ENST00000219837.7	-	5	1289	c.1211T>C	c.(1210-1212)cTc>cCc	p.L404P	KNOP1_ENST00000568230.1_Missense_Mutation_p.L83P|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	404	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L404P(1)									CTTCTTGCCGAGGGCCATGTT	0.602																																																1	Substitution - Missense(1)	kidney(1)											45	50	48					16																	19718398		1881	4097	5978	SO:0001583	missense	400506			BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"family with sequence similarity 191, member A", "testis-specific gene 118"		"chromosome 16 open reading frame 88"	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.1211T>C	16.37:g.19718398A>G	ENSP00000219837:p.Leu404Pro		O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	37	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337104	0.60963	.	.	ENSG00000103550	ENST00000219837	T	0.37752	1.18	5.4	5.4	0.78164	.	0.418901	0.21077	N	0.080544	T	0.58708	0.2141	M	0.66939	2.045	0.47949	D	0.999558	D	0.89917	1.0	D	0.91635	0.999	T	0.58103	-0.7695	9	.	.	.	-9.2826	15.4145	0.74956	1.0:0.0:0.0:0.0	.	404	Q1ED39	CP088_HUMAN	P	404	ENSP00000219837:L404P	.	L	-	2	0	C16orf88	19625899	0.983000	0.35010	0.031000	0.17742	0.435000	0.31806	7.401000	0.79962	2.026000	0.59711	0.460000	0.39030	CTC		0.602	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		G	19718398	A	G	19718398	3	3	490	1	0	0	0	0	1	0	0	0	1843	304	11	3	169	3	C16orf88	16	19718398	Missense_Mutation	SNP	A	TCGA-CJ-4637-01A-02D-1386-10		19718398	70636355	28	26467											
C17orf57	124989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	45452174	45452174	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr17:45452174C>G	ENST00000331493.2	+	12	1625	c.1214C>G	c.(1213-1215)tCt>tGt	p.S405C	EFCAB13_ENST00000517484.1_Missense_Mutation_p.S309C	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	405						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S405C(1)									GACTCAAAGTCTAAACCACAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											64	67	66					17																	45452174		2203	4300	6503	SO:0001583	missense	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1214C>G	17.37:g.45452174C>G	ENSP00000332111:p.Ser405Cys		G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742169	0.69418	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.70869	-0.12;-0.52	4.01	0.81	0.18732	.	0.526148	0.17011	N	0.190516	T	0.74238	0.3690	M	0.64997	1.995	0.09310	N	1	D;D;D	0.76494	0.999;0.995;0.995	D;P;P	0.64237	0.923;0.785;0.785	T	0.61787	-0.6991	9	.	.	.	-0.9435	3.141	0.06456	0.228:0.5397:0.0:0.2323	.	357;405;309	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	C	405;309;357	ENSP00000332111:S405C;ENSP00000430048:S309C	.	S	+	2	0	C17orf57	42807173	0.012000	0.17670	0.634000	0.29324	0.981000	0.71138	-0.383000	0.07398	0.095000	0.17434	0.585000	0.79938	TCT		0.383	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		G	45452174	C	G	45452174	3	3	490	1	0	0	0	0	1	0	0	0	1867	913	32	4	1248	4	C17orf57	17	45452174	Missense_Mutation	SNP	C	TCGA-CJ-4637-01A-02D-1386-10		45452174	35743036	29	26468											
TEX14	56155	broad.mit.edu	37	17	56651592	56651592	+	Silent	SNP	T	T	C			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chr17:56651592T>C	ENST00000240361.8	-	23	3562	c.3477A>G	c.(3475-3477)gaA>gaG	p.E1159E	TEX14_ENST00000349033.5_Silent_p.E1113E|TEX14_ENST00000389934.3_Silent_p.E1153E			Q8IWB6	TEX14_HUMAN	testis expressed 14	1159					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.E1159E(1)|p.E1113E(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGATGTCTCTTCTTGTTCAT	0.383																																																2	Substitution - coding silent(2)	kidney(2)											281	233	249					17																	56651592		2203	4300	6503	SO:0001819	synonymous_variant	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3477A>G	17.37:g.56651592T>C			A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																				0.383	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			C	56651592	T	C	56651592	2	2	490	1	0	0	0	0	0	0	0	1	15783	1606	56	3		3	TEX14	17	56651592	Silent	SNP	T	TCGA-CJ-4637-01A-02D-1386-10	11199418	56651592	24543618	30	26469											
ELK1	2002	broad.mit.edu	37	X	47498682	47498682	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4637-01A-02D-1386-10	TCGA-CJ-4637-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8480571-ee08-4fa1-b509-1331a8fbc075	c246767f-2df0-4836-b43f-a771f0782118	g.chrX:47498682G>A	ENST00000247161.3	-	3	365	c.266C>T	c.(265-267)cCt>cTt	p.P89L	ELK1_ENST00000376983.3_Missense_Mutation_p.P89L|ELK1_ENST00000343894.4_Missense_Mutation_p.P89L|ELK1_ENST00000592066.1_Missense_Mutation_p.P35L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	89					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P89L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGCGACCTCAGGGTAGGACAC	0.587																																																2	Substitution - Missense(2)	kidney(2)											29	23	25					X																	47498682		2203	4300	6503	SO:0001583	missense	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.266C>T	X.37:g.47498682G>A	ENSP00000247161:p.Pro89Leu		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804456	0.90623	.	.	ENSG00000126767	ENST00000247161;ENST00000376983;ENST00000343894	T;T;T	0.55760	0.5;0.5;0.5	5.52	5.52	0.82312	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (1);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65841	-0.6070	10	0.72032	D	0.01	.	15.9232	0.79590	0.0:0.0:1.0:0.0	.	89	P19419	ELK1_HUMAN	L	89	ENSP00000247161:P89L;ENSP00000366182:P89L;ENSP00000345585:P89L	ENSP00000247161:P89L	P	-	2	0	ELK1	47383626	1.000000	0.71417	0.914000	0.36105	0.862000	0.49288	9.465000	0.97660	2.448000	0.82819	0.600000	0.82982	CCT		0.587	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		A	47498682	G	A	47498682	3	1	490	1	0	0	0	0	1	0	0	0	5061	1000	35	2	1036	2	ELK1	23	47498682	Missense_Mutation	SNP	G	TCGA-CJ-4637-01A-02D-1386-10		47498682	107771878	31	26470											
RLF	6018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40704122	40704122	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr1:40704122G>A	ENST00000372771.4	+	8	3775	c.3748G>A	c.(3748-3750)Gaa>Aaa	p.E1250K		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1250					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1250K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TAAAAAGGATGAATGTAGTTC	0.393																																																1	Substitution - Missense(1)	kidney(1)											61	58	59					1																	40704122		2203	4300	6503	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.3748G>A	1.37:g.40704122G>A	ENSP00000361857:p.Glu1250Lys		Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816488	0.50527	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.16457	2.34	5.91	5.91	0.95273	.	0.428902	0.28877	N	0.013851	T	0.19366	0.0465	N	0.24115	0.695	0.44728	D	0.997727	D;P	0.55605	0.972;0.953	P;P	0.51550	0.673;0.473	T	0.01185	-1.1425	10	0.29301	T	0.29	-19.3448	15.0617	0.71961	0.0:0.0:0.8582:0.1418	.	943;1250	F5H2M5;Q13129	.;RLF_HUMAN	K	1250;943	ENSP00000361857:E1250K	ENSP00000361857:E1250K	E	+	1	0	RLF	40476709	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.688000	0.61715	2.793000	0.96121	0.655000	0.94253	GAA		0.393	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		A	40704122	G	A	40704122	3	1	491	1	0	0	0	0	1	0	0	0	13395	1291	45	2	3778	2	RLF	1	40704122	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10		40704122	208546499	1	26471											
MUTYH	4595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	45796978	45796978	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr1:45796978A>G	ENST00000372098.3	-	14	1476	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	MUTYH_ENST00000456914.2_Missense_Mutation_p.L423P|MUTYH_ENST00000372104.1_Missense_Mutation_p.L423P|MUTYH_ENST00000528332.2_Missense_Mutation_p.L132P|MUTYH_ENST00000372110.3_Missense_Mutation_p.L438P|MUTYH_ENST00000372115.3_Missense_Mutation_p.L437P|MUTYH_ENST00000354383.6_Missense_Mutation_p.L424P|MUTYH_ENST00000529984.1_Missense_Mutation_p.L118P|MUTYH_ENST00000372100.5_Missense_Mutation_p.L434P|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000528013.2_Missense_Mutation_p.L437P|MUTYH_ENST00000450313.1_Missense_Mutation_p.L451P|MUTYH_ENST00000448481.1_Missense_Mutation_p.L434P|MUTYH_ENST00000488731.2_Missense_Mutation_p.L118P|MUTYH_ENST00000355498.2_Missense_Mutation_p.L423P			Q9UIF7	MUTYH_HUMAN	mutY homolog	448	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)	p.L448P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TTGATATGTCAGCTTGATGTG	0.537			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	1	Substitution - Missense(1)	kidney(1)											91	88	89					1																	45796978		2203	4300	6503	SO:0001583	missense	4595	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1343T>C	1.37:g.45796978A>G	ENSP00000361170:p.Leu448Pro		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	CCDS520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.71|14.71	2.617635|2.617635	0.46736|0.46736	.|.	.|.	ENSG00000132781|ENSG00000132781	ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100|ENST00000529892	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.95554|.	-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74|.	5.16|5.16	3.91|3.91	0.45181|0.45181	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);|.	0.206122|.	0.42172|.	D|.	0.000742|.	T|.	0.78836|.	0.4346|.	M|M	0.91663|0.91663	3.23|3.23	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D;D;P;D|.	0.76494|.	0.999;0.97;0.972;0.982;0.972;0.97;0.93;0.986|.	D;D;D;D;D;D;P;D|.	0.77004|.	0.989;0.916;0.916;0.962;0.916;0.916;0.881;0.916|.	T|.	0.82163|.	-0.0593|.	10|.	0.51188|.	T|.	0.08|.	-5.17|-5.17	9.2488|9.2488	0.37543|0.37543	0.706:0.0:0.0:0.294|0.706:0.0:0.0:0.294	.|.	132;451;448;438;448;437;331;424|.	B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28|.	.;.;.;.;MUTYH_HUMAN;.;.;.|.	P|R	118;132;423;434;423;424;423;448;438;437;118;451;434|115	ENSP00000437093:L118P;ENSP00000433076:L132P;ENSP00000361176:L423P;ENSP00000409718:L434P;ENSP00000407590:L423P;ENSP00000346354:L424P;ENSP00000347685:L423P;ENSP00000361170:L448P;ENSP00000361182:L438P;ENSP00000361187:L437P;ENSP00000432330:L118P;ENSP00000408176:L451P;ENSP00000361172:L434P|.	ENSP00000346354:L424P|.	L|X	-|-	2|1	0|0	MUTYH|MUTYH	45569565|45569565	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.952000|0.952000	0.60782|0.60782	4.919000|4.919000	0.63383|0.63383	1.955000|1.955000	0.56771|0.56771	0.533000|0.533000	0.62120|0.62120	CTG|TGA		0.537	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		G	45796978	A	G	45796978	3	3	491	1	0	0	0	0	1	0	0	0	9995	188	7	3	309	3	MUTYH	1	45796978	Missense_Mutation	SNP	A	TCGA-CJ-4638-01A-02D-1386-10	5092856	45796978	203453643	2	26472											
CLCA1	1179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	86957042	86957042	+	Silent	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr1:86957042G>A	ENST00000234701.3	+	10	1803	c.1452G>A	c.(1450-1452)caG>caA	p.Q484Q	CLCA1_ENST00000394711.1_Silent_p.Q484Q			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	484					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.Q484Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTGTCTCTCAGCGCTCCATCC	0.388																																																1	Substitution - coding silent(1)	kidney(1)											104	101	102					1																	86957042		2203	4300	6503	SO:0001819	synonymous_variant	1179				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1452G>A	1.37:g.86957042G>A			B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	CCDS709.1																																																																																				0.388	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		A	86957042	G	A	86957042	2	1	491	1	0	0	0	0	0	0	0	1	3459	962	34	2		2	CLCA1	1	86957042	Silent	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	41160064	86957042	162293579	3	26473											
ATP1A1	476	broad.mit.edu	37	1	116941357	116941357	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr1:116941357G>A	ENST00000295598.5	+	16	2491	c.2239G>A	c.(2239-2241)Gac>Aac	p.D747N	ATP1A1_ENST00000369496.4_Missense_Mutation_p.D716N|ATP1A1_ENST00000537345.1_Missense_Mutation_p.D747N	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	747					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.D747N(1)|p.D747H(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GCAAGCTGCTGACATGATTCT	0.463																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											186	177	180					1																	116941357		2203	4300	6503	SO:0001583	missense	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2239G>A	1.37:g.116941357G>A	ENSP00000295598:p.Asp747Asn		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	36	5.779031	0.96929	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000369496	D;D;D	0.85258	-1.96;-1.96;-1.96	5.23	5.23	0.72850	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93025	0.7780	M	0.90870	3.155	0.80722	D	1	P;P	0.38280	0.625;0.491	P;P	0.56088	0.791;0.623	D	0.93408	0.6766	10	0.87932	D	0	.	19.0012	0.92834	0.0:0.0:1.0:0.0	.	747;747	F5H3A1;P05023	.;AT1A1_HUMAN	N	747;747;716	ENSP00000295598:D747N;ENSP00000445306:D747N;ENSP00000358508:D716N	ENSP00000295598:D747N	D	+	1	0	ATP1A1	116742880	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	9.657000	0.98554	2.718000	0.92993	0.655000	0.94253	GAC		0.463	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		A	116941357	G	A	116941357	3	1	491	1	0	0	0	0	1	0	0	0	1128	1290	45	2	2317	2	ATP1A1	1	116941357	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	29984315	116941357	132309264	4	26474											
QSOX1	5768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	180165532	180165532	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr1:180165532T>G	ENST00000367602.3	+	12	1678	c.1604T>G	c.(1603-1605)tTc>tGc	p.F535C	QSOX1_ENST00000367600.5_Missense_Mutation_p.F535C			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	535					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.F535C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGGCCCACTTCTCCCCAAGC	0.622																																																1	Substitution - Missense(1)	kidney(1)											144	146	145					1																	180165532		2203	4300	6503	SO:0001583	missense	5768			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1604T>G	1.37:g.180165532T>G	ENSP00000356574:p.Phe535Cys		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.376064	0.61735	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.23147	3.29;1.92	5.35	5.35	0.76521	.	0.409870	0.29653	N	0.011559	T	0.39545	0.1082	L	0.43923	1.385	0.41522	D	0.988405	P;P;D;P	0.89917	0.543;0.543;1.0;0.672	B;B;D;B	0.68192	0.186;0.142;0.956;0.274	T	0.27872	-1.0061	10	0.87932	D	0	-7.7381	9.6887	0.40114	0.1552:0.0:0.0:0.8448	.	535;535;535;535	A8K4C2;A8K477;O00391;O00391-2	.;.;QSOX1_HUMAN;.	C	535	ENSP00000356574:F535C;ENSP00000356572:F535C	ENSP00000356572:F535C	F	+	2	0	QSOX1	178432155	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.727000	0.38095	2.030000	0.59900	0.418000	0.28097	TTC		0.622	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		G	180165532	T	G	180165532	3	3	491	1	0	0	0	0	1	0	0	0	12889	1783	62	5	1650	5	QSOX1	1	180165532	Missense_Mutation	SNP	T	TCGA-CJ-4638-01A-02D-1386-10	63224175	180165532	69085089	5	26475											
APOB	338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	21242762	21242762	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr2:21242762C>A	ENST00000233242.1	-	19	2959	c.2832G>T	c.(2830-2832)ttG>ttT	p.L944F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	944	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L944F(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTAGAGACCAAATGTAATG	0.448																																																1	Substitution - Missense(1)	kidney(1)											137	128	131					2																	21242762		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2832G>T	2.37:g.21242762C>A	ENSP00000233242:p.Leu944Phe		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586850	0.46110	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.15718	2.4	5.23	4.34	0.51931	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.000000	0.49916	D	0.000130	T	0.35856	0.0946	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.06023	-1.0850	10	0.48119	T	0.1	.	13.9811	0.64306	0.0:0.9262:0.0:0.0738	.	944	P04114	APOB_HUMAN	F	944	ENSP00000233242:L944F	ENSP00000233242:L944F	L	-	3	2	APOB	21096267	0.953000	0.32496	0.999000	0.59377	0.364000	0.29643	0.860000	0.27871	1.343000	0.45638	0.655000	0.94253	TTG		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21242762	C	A	21242762	3	1	491	1	0	0	0	0	1	0	0	0	785	593	21	4	10903	4	APOB	2	21242762	Missense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10		21242762	221956611	6	26476											
HK2	3099	broad.mit.edu;ucsc.edu	37	2	75107668	75107668	+	Silent	SNP	C	C	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr2:75107668C>T	ENST00000290573.2	+	10	2142	c.1542C>T	c.(1540-1542)acC>acT	p.T514T	HK2_ENST00000409174.1_Silent_p.T486T	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	514	Catalytic.|Hexokinase type-1 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.T514T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGCTGCCCACCTACGTGTGTG	0.597																																																1	Substitution - coding silent(1)	kidney(1)											65	64	65					2																	75107668		2203	4300	6503	SO:0001819	synonymous_variant	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1542C>T	2.37:g.75107668C>T			D6W5J2|Q8WU87|Q9UN82	Silent	SNP	ENST00000290573.2	37	CCDS1956.1																																																																																				0.597	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		T	75107668	C	T	75107668	2	4	491	1	0	0	0	0	0	0	0	1	7193	668	24	2		2	HK2	2	75107668	Silent	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	53864906	75107668	168091705	7	26477											
DPP4	1803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	162894910	162894910	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr2:162894910A>C	ENST00000360534.3	-	8	1075	c.515T>G	c.(514-516)aTt>aGt	p.I172S		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	172					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.I172S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TTTAACATAAATGTCATTGTT	0.303																																																1	Substitution - Missense(1)	kidney(1)											61	60	60					2																	162894910		2201	4284	6485	SO:0001583	missense	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.515T>G	2.37:g.162894910A>C	ENSP00000353731:p.Ile172Ser		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686706	0.88639	.	.	ENSG00000197635	ENST00000360534	T	0.37752	1.18	6.03	6.03	0.97812	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.613796	0.17661	N	0.166325	T	0.68238	0.2979	M	0.90309	3.105	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.74278	-0.3717	10	0.87932	D	0	-6.6896	16.2458	0.82445	1.0:0.0:0.0:0.0	.	172	P27487	DPP4_HUMAN	S	172	ENSP00000353731:I172S	ENSP00000353731:I172S	I	-	2	0	DPP4	162603156	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.725000	0.84808	2.313000	0.78055	0.455000	0.32223	ATT		0.303	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			C	162894910	A	C	162894910	3	2	491	1	0	0	0	0	1	0	0	0	4731	101	4	5	1861	5	DPP4	2	162894910	Missense_Mutation	SNP	A	TCGA-CJ-4638-01A-02D-1386-10	87787242	162894910	80304463	8	26478											
SETD5	55209	hgsc.bcm.edu	37	3	9517686	9517686	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr3:9517686T>C	ENST00000406341.1	+	22	4430	c.4240T>C	c.(4240-4242)Tac>Cac	p.Y1414H	SETD5_ENST00000302463.6_Missense_Mutation_p.Y1316H|SETD5_ENST00000402198.1_Missense_Mutation_p.Y1414H|SETD5_ENST00000402466.1_Missense_Mutation_p.Y1316H|SETD5_ENST00000407969.1_Missense_Mutation_p.Y1433H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1414										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCACAGCACTACCCACACCG	0.572																																																0													48	47	47					3																	9517686		1977	4159	6136	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.4240T>C	3.37:g.9517686T>C	ENSP00000383939:p.Tyr1414His		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261601	0.59431	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93019	-2.82;-3.15;-2.82;-2.81;-3.15	4.96	4.96	0.65561	.	0.092295	0.47455	D	0.000239	D	0.92718	0.7685	N	0.19112	0.55	0.38224	D	0.940844	D;D;D	0.71674	0.996;0.998;0.99	P;D;P	0.64877	0.904;0.93;0.723	D	0.93178	0.6572	10	0.34782	T	0.22	-8.1182	14.9377	0.70970	0.0:0.0:0.0:1.0	.	1083;1316;1414	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	H	1414;1316;1414;1433;1316	ENSP00000385852:Y1414H;ENSP00000384429:Y1316H;ENSP00000383939:Y1414H;ENSP00000384114:Y1433H;ENSP00000302028:Y1316H	ENSP00000302028:Y1316H	Y	+	1	0	SETD5	9492686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.281000	0.72632	1.982000	0.57802	0.383000	0.25322	TAC		0.572	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		C	9517686	T	C	9517686	3	2	491	1	0	0	0	0	1	0	0	0	14140	1522	53	3	4322	3	SETD5	3	9517686	Missense_Mutation	SNP	T	TCGA-CJ-4638-01A-02D-1386-10		9517686	188504744	9	26479											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188218	10188218	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr3:10188218G>T	ENST00000256474.2	+	2	1201	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	121	Involved in binding to CCT complex.		D -> G (in VHLD; type I; dbSNP:rs5030832). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.D121Y(6)|p.R120fs*38(1)|p.?(1)|p.D121_A122del(1)|p.R120fs*34(1)|p.R120fs*10(1)|p.L118_G123>P(1)|p.D121fs*38(1)|p.D121*(1)|p.W117fs*1(1)|p.A122fs*7(1)|p.D121fs*35(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCTCTTCAGAGATGCAGGGAC	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Deletion - Frameshift(7)|Substitution - Missense(6)|Deletion - In frame(1)|Substitution - Nonsense(1)|Unknown(1)|Complex - deletion inframe(1)	kidney(17)	GRCh37	CD962176|CM056724	VHL	D|M							184	171	176					3																	10188218		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.361G>T	3.37:g.10188218G>T	ENSP00000256474:p.Asp121Tyr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406908	0.62399	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99841	-7.09	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.050790	0.85682	D	0.000000	D	0.99782	0.9909	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96910	0.9666	10	0.87932	D	0	-24.4217	16.3181	0.82935	0.0:0.0:1.0:0.0	.	121	P40337	VHL_HUMAN	Y	121;39	ENSP00000256474:D121Y	ENSP00000256474:D121Y	D	+	1	0	VHL	10163218	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	7.274000	0.78538	2.530000	0.85305	0.563000	0.77884	GAT		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188218	G	T	10188218	3	4	491	1	0	0	0	0	1	0	0	0	17167	942	33	4	367	4	VHL	3	10188218	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	670532	10188218	187834212	10	26480											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443574	52443574	+	5'Flank	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr3:52443574G>A	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Nonsense_Mutation_p.Q40*|BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q40*	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.Q40*(2)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACTCACCCCTGACATTTGCTC	0.582																																																2	Substitution - Nonsense(2)	kidney(1)|pleura(1)											218	228	224					3																	52443574		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443574G>A	Exception_encountered		K4DI82	Nonsense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352033	0.95830	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	4.97	4.97	0.65823	.	0.114511	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.2399	0.89963	0.0:0.0:1.0:0.0	.	.	.	.	X	40	.	ENSP00000296288:Q40X	Q	-	1	0	BAP1	52418614	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.607000	0.82883	2.312000	0.78011	0.655000	0.94253	CAG		0.582	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		A	52443574	G	A	52443574	1	1	491	0	1	0	0	0	0	0	0	0	1311	1299	45	2		2	BAP1	3	52443574	5'Flank	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	42255356	52443574	145578856	11	26481											
HTR1F	3355	hgsc.bcm.edu;ucsc.edu	37	3	88040822	88040823	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr3:88040822_88040823insT	ENST00000319595.4	+	1	977_978	c.923_924insT	c.(922-927)ccttttfs	p.PF308fs		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	308	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGTTGGCTTCCTTTTTTTGTAA	0.371																																																0																																										SO:0001589	frameshift_variant	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.930dupT	3.37:g.88040829_88040829dupT	ENSP00000322924:p.Pro308fs			Frame_Shift_Ins	INS	ENST00000319595.4	37	CCDS2920.1																																																																																				0.371	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		T	88040823	-	T	88040822	7	5	491	1	0	1	1	0	0	0	0	0	7442	681	24	0	925	0	HTR1F	3	88040822	Frame_Shift_Ins	INS	-	TCGA-CJ-4638-01A-02D-1386-10	35597248	88040822	109981608	12	26482											
CD86	942	broad.mit.edu;ucsc.edu	37	3	121825286	121825286	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr3:121825286G>C	ENST00000330540.2	+	4	758	c.642G>C	c.(640-642)atG>atC	p.M214I	CD86_ENST00000493101.1_Missense_Mutation_p.M102I|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.M208I|CD86_ENST00000469710.1_Missense_Mutation_p.M132I	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	214	Ig-like C2-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)	p.M214I(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	CGAGCAATATGACCATCTTCT	0.393																																					GBM(67;1379 1389 36064 39806)											1	Substitution - Missense(1)	kidney(1)											202	184	190					3																	121825286		2203	4300	6503	SO:0001583	missense	942				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.642G>C	3.37:g.121825286G>C	ENSP00000332049:p.Met214Ile		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.146|8.146	0.786378|0.786378	0.16189|0.16189	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000478741|ENST00000469710;ENST00000493101;ENST00000330540;ENST00000393627	.|T;T;T;T	.|0.12984	.|2.69;2.63;2.69;2.69	5.65|5.65	-1.04|-1.04	0.10068|0.10068	.|.	.|1.570610	.|0.03359	.|N	.|0.197348	T|T	0.07369|0.07369	0.0186|0.0186	N|N	0.20685|0.20685	0.6|0.6	0.20764|0.20764	N|N	0.999859|0.999859	.|B;B	.|0.22541	.|0.038;0.071	.|B;B	.|0.18871	.|0.014;0.023	T|T	0.27640|0.27640	-1.0068|-1.0068	5|10	.|0.18710	.|T	.|0.47	-0.5257|-0.5257	0.5646|0.5646	0.00685|0.00685	0.2446:0.1316:0.328:0.2958|0.2446:0.1316:0.328:0.2958	.|.	.|102;214	.|E9PC27;P42081	.|.;CD86_HUMAN	H|I	210|132;102;214;208	.|ENSP00000418988:M132I;ENSP00000420230:M102I;ENSP00000332049:M214I;ENSP00000377248:M208I	.|ENSP00000332049:M214I	D|M	+|+	1|3	0|0	CD86|CD86	123307976|123307976	0.036000|0.036000	0.19791|0.19791	0.001000|0.001000	0.08648|0.08648	0.033000|0.033000	0.12548|0.12548	0.354000|0.354000	0.20146|0.20146	-0.047000|-0.047000	0.13423|0.13423	-0.181000|-0.181000	0.13052|0.13052	GAC|ATG		0.393	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		C	121825286	G	C	121825286	3	2	491	1	0	0	0	0	1	0	0	0	3045	1290	45	4	656	4	CD86	3	121825286	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	33784464	121825286	76197144	13	26483											
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	73956463	73956463	+	Silent	SNP	T	T	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr4:73956463T>A	ENST00000358602.4	-	29	6998	c.6882A>T	c.(6880-6882)tcA>tcT	p.S2294S	ANKRD17_ENST00000509867.2_Silent_p.S2181S|ANKRD17_ENST00000330838.6_Silent_p.S2043S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2294					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S2294S(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTAAAGGATCTGAATTTGGCA	0.433																																																1	Substitution - coding silent(1)	kidney(1)											138	145	143					4																	73956463		2203	4300	6503	SO:0001819	synonymous_variant	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6882A>T	4.37:g.73956463T>A			E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	CCDS34004.1																																																																																				0.433	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		A	73956463	T	A	73956463	2	1	491	1	0	0	0	0	0	0	0	1	646	1567	55	5		5	ANKRD17	4	73956463	Silent	SNP	T	TCGA-CJ-4638-01A-02D-1386-10		73956463	117197813	14	26484											
ANK2	287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	114290829	114290829	+	Silent	SNP	A	A	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr4:114290829A>T	ENST00000357077.4	+	43	11531	c.11478A>T	c.(11476-11478)atA>atT	p.I3826I	ANK2_ENST00000394537.3_Silent_p.I1741I|ANK2_ENST00000506722.1_Silent_p.I1732I|ANK2_ENST00000509550.1_Silent_p.I917I|ANK2_ENST00000264366.6_Silent_p.I3793I|ANK2_ENST00000510275.2_Silent_p.I393I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3826					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.I3826I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCCCATCATACAAGAACCCG	0.582																																																1	Substitution - coding silent(1)	kidney(1)											66	64	65					4																	114290829		2203	4300	6503	SO:0001819	synonymous_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11478A>T	4.37:g.114290829A>T			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	6.380	0.438153	0.12104	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.66	-11.3	0.00108	.	.	.	.	.	T	0.62768	0.2455	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76764	-0.2839	4	.	.	.	.	18.6757	0.91528	0.0774:0.2487:0.6738:0.0	.	.	.	.	S	743	.	.	T	+	1	0	ANK2	114510278	0.014000	0.17966	0.000000	0.03702	0.008000	0.06430	-1.240000	0.02914	-2.557000	0.00476	-0.924000	0.02725	ACA		0.582	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114290829	A	T	114290829	2	4	491	1	0	0	0	0	0	0	0	1	621	381	14	5		5	ANK2	4	114290829	Silent	SNP	A	TCGA-CJ-4638-01A-02D-1386-10	40334366	114290829	76863447	15	26485											
NEIL3	55247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	178283613	178283613	+	Silent	SNP	T	T	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr4:178283613T>A	ENST00000264596.3	+	10	1924	c.1806T>A	c.(1804-1806)atT>atA	p.I602I		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	602					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.I602I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TAAAAATTATTCCTGGATGCT	0.358								Base excision repair (BER), DNA glycosylases																																								1	Substitution - coding silent(1)	kidney(1)											57	64	62					4																	178283613		2203	4300	6503	SO:0001819	synonymous_variant	55247			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1806T>A	4.37:g.178283613T>A			Q2PPJ3|Q8NG51|Q9NV95	Silent	SNP	ENST00000264596.3	37	CCDS3828.1																																																																																				0.358	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		A	178283613	T	A	178283613	2	1	491	1	0	0	0	0	0	0	0	1	10322	1771	62	5		5	NEIL3	4	178283613	Silent	SNP	T	TCGA-CJ-4638-01A-02D-1386-10	63992784	178283613	12870663	16	26486											
SORBS2	8470	broad.mit.edu;hgsc.bcm.edu	37	4	186508841	186508841	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr4:186508841C>T	ENST00000284776.7	-	21	3752	c.3243G>A	c.(3241-3243)ggG>ggA	p.G1081G	SORBS2_ENST00000355634.5_Splice_Site_p.G1181G|SORBS2_ENST00000418609.1_Splice_Site_p.G985G|SORBS2_ENST00000449407.2_Splice_Site_p.G625G|SORBS2_ENST00000393528.3_Splice_Site_p.G647G|SORBS2_ENST00000431808.1_Splice_Site_p.G1081G|SORBS2_ENST00000319471.9_Splice_Site_p.G712G|SORBS2_ENST00000437304.2_Splice_Site_p.G805G|SORBS2_ENST00000448662.2_Splice_Site_p.G642G|RP11-301L8.2_ENST00000411847.1_RNA	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1081	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.G642G(1)|p.G647G(1)|p.G1081G(1)|p.G805G(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTCTTGAGGTCCCTGAAAATA	0.493																																					Esophageal Squamous(153;41 2433 9491 36028)											4	Substitution - coding silent(4)	kidney(4)											56	57	57					4																	186508841		2203	4300	6503	SO:0001630	splice_region_variant	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3242-1G>A	4.37:g.186508841C>T			A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	CCDS3845.1																																																																																				0.493	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	Silent	T	186508841	C	T	186508841	5	4	491	1	0	0	0	0	0	0	1	0	14934	869	30	2	63	2	SORBS2	4	186508841	Splice_Site	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	8225228	186508841	4645435	17	26487											
SEMA5A	9037	hgsc.bcm.edu;ucsc.edu	37	5	9122825	9122825	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr5:9122825delG	ENST00000382496.5	-	14	2389	c.1724delC	c.(1723-1725)ccgfs	p.P575fs		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	575	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACCACACTGCGGGGCCGGGCT	0.632																																																0													46	51	49					5																	9122825		2203	4300	6503	SO:0001589	frameshift_variant	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1724delC	5.37:g.9122825delG	ENSP00000371936:p.Pro575fs		D3DTC6|O60408|Q1RLL9	Frame_Shift_Del	DEL	ENST00000382496.5	37	CCDS3875.1																																																																																				0.632	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			-	9122825	G	-	9122825	7	5	491	1	0	1	0	1	0	0	0	0	14043	1116	39	0	1540	0	SEMA5A	5	9122825	Frame_Shift_Del	DEL	G	TCGA-CJ-4638-01A-02D-1386-10		9122825	171792435	18	26488											
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89989763	89989763	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr5:89989763T>A	ENST00000405460.2	+	33	7286	c.7190T>A	c.(7189-7191)gTg>gAg	p.V2397E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2397					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V2397E(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGATGTAGTGGCTCTGGCA	0.448																																																1	Substitution - Missense(1)	kidney(1)											68	65	66					5																	89989763		1903	4125	6028	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7190T>A	5.37:g.89989763T>A	ENSP00000384582:p.Val2397Glu		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193576	0.78902	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.35605	1.3	6.08	6.08	0.98989	.	0.051301	0.85682	D	0.000000	T	0.47563	0.1452	M	0.69823	2.125	0.80722	D	1	D	0.54207	0.965	P	0.50082	0.63	T	0.52756	-0.8533	10	0.87932	D	0	.	11.6508	0.51288	0.0:0.0684:0.0:0.9316	.	2397	Q8WXG9	GPR98_HUMAN	E	2397	ENSP00000384582:V2397E	ENSP00000296619:V2397E	V	+	2	0	GPR98	90025519	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.101000	0.71479	2.333000	0.79357	0.482000	0.46254	GTG		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		A	89989763	T	A	89989763	3	1	491	1	0	0	0	0	1	0	0	0	6723	1696	59	5	7320	5	GPR98	5	89989763	Missense_Mutation	SNP	T	TCGA-CJ-4638-01A-02D-1386-10	80866938	89989763	90925497	19	26489											
BTNL9	153579	broad.mit.edu;hgsc.bcm.edu	37	5	180475150	180475150	+	Silent	SNP	C	C	T	rs112433732		TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr5:180475150C>T	ENST00000327705.9	+	3	564	c.333C>T	c.(331-333)atC>atT	p.I111I	BTNL9_ENST00000376842.3_Silent_p.I111I|BTNL9_ENST00000515271.1_Silent_p.I42I|BTNL9_ENST00000376841.2_Silent_p.I111I	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	111	Ig-like V-type.					integral component of membrane (GO:0016021)		p.I111I(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGACGACATCGCCTATGGCA	0.587																																																1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	74	61	65		333	-4.3	0	5	dbSNP_132	65	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	BTNL9	NM_152547.4		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		111/536	180475150	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	153579			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.333C>T	5.37:g.180475150C>T			A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	CCDS4460.2																																																																																				0.587	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		T	180475150	C	T	180475150	2	4	491	1	0	0	0	0	0	0	0	1	1570	874	31	1		1	BTNL9	5	180475150	Silent	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	90485387	180475150	440110	20	26490											
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152647465	152647465	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr6:152647465G>A	ENST00000367255.5	-	79	15860	c.15259C>T	c.(15259-15261)Cgg>Tgg	p.R5087W	SYNE1_ENST00000423061.1_Missense_Mutation_p.R5016W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5016W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4834W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5087W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5087					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R5087W(2)|p.R5016W(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGAGTCCCGGCTCATCCTC	0.478										HNSCC(10;0.0054)																																						3	Substitution - Missense(3)	kidney(3)											77	81	80					6																	152647465		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15259C>T	6.37:g.152647465G>A	ENSP00000356224:p.Arg5087Trp		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600829	0.28534	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53857	1.3;1.3;1.3;1.3;0.6	5.56	4.7	0.59300	.	0.401750	0.21710	N	0.070295	T	0.23926	0.0579	N	0.14661	0.345	0.31886	N	0.617761	D;P;P;D	0.58620	0.972;0.903;0.903;0.983	P;B;B;P	0.45712	0.471;0.124;0.124;0.491	T	0.14783	-1.0460	10	0.87932	D	0	.	10.2581	0.43410	0.0711:0.1347:0.7942:0.0	.	5087;5087;5087;5016	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	W	5087;5016;5087;5016;4834	ENSP00000356224:R5087W;ENSP00000396024:R5016W;ENSP00000265368:R5087W;ENSP00000390975:R5016W;ENSP00000341887:R4834W	ENSP00000265368:R5087W	R	-	1	2	SYNE1	152689158	1.000000	0.71417	0.103000	0.21229	0.038000	0.13279	3.948000	0.56660	1.366000	0.46076	-0.194000	0.12790	CGG		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152647465	G	A	152647465	3	1	491	1	0	0	0	0	1	0	0	0	15450	1115	39	1	11479	1	SYNE1	6	152647465	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10		152647465	18467602	21	26491											
SCRN1	9805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	29963599	29963599	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr7:29963599C>A	ENST00000426154.1	-	8	1395	c.1219G>T	c.(1219-1221)Gac>Tac	p.D407Y	SCRN1_ENST00000434476.2_Missense_Mutation_p.D427Y|SCRN1_ENST00000409497.1_Missense_Mutation_p.D407Y|SCRN1_ENST00000242059.5_Missense_Mutation_p.D407Y|SCRN1_ENST00000425819.2_Missense_Mutation_p.D339Y|SCRN1_ENST00000416113.2_Missense_Mutation_p.D233Y	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	407					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)	p.D427Y(1)|p.D407Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ATCTCCGTGTCAACACAGTCA	0.483																																																2	Substitution - Missense(2)	kidney(2)											138	142	141					7																	29963599		2203	4300	6503	SO:0001583	missense	9805			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.1219G>T	7.37:g.29963599C>A	ENSP00000409068:p.Asp407Tyr		A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266527	0.80358	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000416113;ENST00000434476	T;T;T;T;T;T	0.13778	3.05;3.05;2.91;3.05;2.56;3.03	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.997;0.997;1.0;0.995	D;D;D;D	0.87578	0.96;0.96;0.998;0.928	T	0.24154	-1.0168	10	0.87932	D	0	-24.5607	16.632	0.85036	0.0:1.0:0.0:0.0	.	427;427;339;407	C9JPG0;B4DHM0;B4DIP5;Q12765	.;.;.;SCRN1_HUMAN	Y	407;407;339;211;407;233;427	ENSP00000242059:D407Y;ENSP00000409068:D407Y;ENSP00000414245:D339Y;ENSP00000386872:D407Y;ENSP00000407460:D233Y;ENSP00000388942:D427Y	ENSP00000242059:D407Y	D	-	1	0	SCRN1	29930124	1.000000	0.71417	0.991000	0.47740	0.951000	0.60555	7.302000	0.78861	2.319000	0.78375	0.655000	0.94253	GAC		0.483	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		A	29963599	C	A	29963599	3	1	491	1	0	0	0	0	1	0	0	0	13944	826	29	4	29	4	SCRN1	7	29963599	Missense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10		29963599	129175064	22	26492											
RELN	5649	hgsc.bcm.edu;ucsc.edu	37	7	103243784	103243793	+	Frame_Shift_Del	DEL	GACACCACAC	GACACCACAC	-			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	GACACCACAC	GACACCACAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr7:103243784_103243793delGACACCACAC	ENST00000428762.1	-	24	3450_3459	c.3291_3300delGTGTGGTGTC	c.(3289-3300)gggtgtggtgtcfs	p.GCGV1097fs	RELN_ENST00000424685.2_Frame_Shift_Del_p.GCGV1097fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.GCGV1097fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1097					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGAAGAGATGACACCACACCCTTGTTCTG	0.448																																					NSCLC(146;835 1944 15585 22231 52158)											0																																										SO:0001589	frameshift_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3291_3300delGTGTGGTGTC	7.37:g.103243784_103243793delGACACCACAC	ENSP00000392423:p.Gly1097fs		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Frame_Shift_Del	DEL	ENST00000428762.1	37	CCDS47680.1																																																																																				0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		-	103243793	GACACCACAC	-	103243784	7	5	491	1	0	1	0	1	0	0	0	0	13226	1277	45	0	7250	0	RELN	7	103243784	Frame_Shift_Del	DEL	GACACCACAC	TCGA-CJ-4638-01A-02D-1386-10	73280185	103243784	55894879	23	26493											
AASS	10157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121766489	121766489	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr7:121766489T>A	ENST00000393376.1	-	3	507	c.412A>T	c.(412-414)Aaa>Taa	p.K138*	AASS_ENST00000417368.2_Nonsense_Mutation_p.K138*|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	138	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.K138*(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TCCACCATTTTCTCATAATCA	0.398																																																1	Substitution - Nonsense(1)	kidney(1)											239	229	232					7																	121766489		2203	4300	6503	SO:0001587	stop_gained	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.412A>T	7.37:g.121766489T>A	ENSP00000377040:p.Lys138*		O95462	Nonsense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	38	6.660256	0.97743	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-14.728	15.6396	0.76984	0.0:0.0:0.0:1.0	.	.	.	.	X	138	.	ENSP00000351834:K138X	K	-	1	0	AASS	121553725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.000000	0.88501	2.104000	0.64026	0.524000	0.50904	AAA		0.398	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		A	121766489	T	A	121766489	4	1	491	1	0	0	0	0	0	1	0	0	24	1792	62	5	2452	5	AASS	7	121766489	Nonsense_Mutation	SNP	T	TCGA-CJ-4638-01A-02D-1386-10	18522705	121766489	37372174	24	26494											
EPHB6	2051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	142563846	142563846	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr7:142563846G>T	ENST00000392957.2	+	9	2021	c.1234G>T	c.(1234-1236)Ggc>Tgc	p.G412C	EPHB6_ENST00000411471.2_Missense_Mutation_p.G135C|EPHB6_ENST00000442129.1_Missense_Mutation_p.G412C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	412	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.G397C(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGAGTGTGAAGGCCGCCAGGA	0.642																																																1	Substitution - Missense(1)	kidney(1)											37	32	34					7																	142563846		2203	4299	6502	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1234G>T	7.37:g.142563846G>T	ENSP00000376684:p.Gly412Cys		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033367	0.35893	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.59638	0.25;0.25;0.25	5.25	4.37	0.52481	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.505173	0.16953	N	0.192781	T	0.65616	0.2708	L	0.54323	1.7	0.09310	N	1	D	0.61080	0.989	P	0.59546	0.859	T	0.56111	-0.8033	10	0.49607	T	0.09	.	9.7619	0.40537	0.096:0.0:0.904:0.0	.	412	O15197	EPHB6_HUMAN	C	412;412;135	ENSP00000376684:G412C;ENSP00000410789:G412C;ENSP00000409061:G135C	ENSP00000376684:G412C	G	+	1	0	EPHB6	142273968	0.462000	0.25791	0.003000	0.11579	0.340000	0.28889	0.923000	0.28757	1.201000	0.43203	0.462000	0.41574	GGC		0.642	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			T	142563846	G	T	142563846	3	4	491	1	0	0	0	0	1	0	0	0	5180	1000	35	4	1252	4	EPHB6	7	142563846	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	20797357	142563846	16574817	25	26495											
XKR6	286046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	10782282	10782282	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr8:10782282G>A	ENST00000416569.2	-	2	849	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	XKR6_ENST00000304437.2_De_novo_Start_OutOfFrame	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	275						integral component of membrane (GO:0016021)		p.R275C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CAGTAGAAGCGTCGCTGGTGT	0.572																																																1	Substitution - Missense(1)	kidney(1)											119	104	109					8																	10782282		2203	4300	6503	SO:0001583	missense	286046			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 7", "chromosome 8 open reading frame 21", "X Kell blood group precursor-related family, member 6", "chromosome 8 open reading frame 5"	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.823C>T	8.37:g.10782282G>A	ENSP00000416707:p.Arg275Cys		Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	g	27.9	4.869545	0.91587	.	.	ENSG00000171044	ENST00000416569	T	0.64803	-0.12	4.71	4.71	0.59529	.	0.000000	0.85682	U	0.000000	T	0.78149	0.4238	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.81118	-0.1078	10	0.66056	D	0.02	-8.5012	16.6436	0.85155	0.0:0.0:1.0:0.0	.	275	Q5GH73	XKR6_HUMAN	C	275	ENSP00000416707:R275C	ENSP00000416707:R275C	R	-	1	0	XKR6	10819692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.637000	0.98443	2.156000	0.67533	0.457000	0.33378	CGC		0.572	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		A	10782282	G	A	10782282	3	1	491	1	0	0	0	0	1	0	0	0	17440	1145	40	1	1110	1	XKR6	8	10782282	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10		10782282	135581740	26	26496											
MATN2	4147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	99028778	99028778	+	Silent	SNP	T	T	C			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr8:99028778T>C	ENST00000520016.1	+	10	1708	c.1584T>C	c.(1582-1584)tcT>tcC	p.S528S	MATN2_ENST00000522025.2_Silent_p.S244S|MATN2_ENST00000524308.1_Silent_p.S487S|MATN2_ENST00000521689.1_Silent_p.S528S|MATN2_ENST00000254898.5_Silent_p.S528S			O00339	MATN2_HUMAN	matrilin 2	528	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S528S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AATTGGACTCTTGTGCTCTGG	0.393																																																2	Substitution - coding silent(2)	kidney(2)											76	71	73					8																	99028778		1862	4107	5969	SO:0001819	synonymous_variant	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1584T>C	8.37:g.99028778T>C			A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	CCDS55264.1																																																																																				0.393	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			C	99028778	T	C	99028778	2	2	491	1	0	0	0	0	0	0	0	1	9336	1596	56	3		3	MATN2	8	99028778	Silent	SNP	T	TCGA-CJ-4638-01A-02D-1386-10	88246496	99028778	47335244	27	26497											
COL14A1	7373	hgsc.bcm.edu;ucsc.edu	37	8	121259910	121259910	+	Silent	SNP	C	C	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr8:121259910C>T	ENST00000297848.3	+	21	2808	c.2538C>T	c.(2536-2538)cgC>cgT	p.R846R	COL14A1_ENST00000247781.3_Silent_p.R751R|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.R846R	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCGGTTGCGCATTACGTGGG	0.458																																																0													108	96	100					8																	121259910		2203	4300	6503	SO:0001819	synonymous_variant	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2538C>T	8.37:g.121259910C>T				Silent	SNP	ENST00000297848.3	37	CCDS34938.1																																																																																				0.458	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121259910	C	T	121259910	2	4	491	1	0	0	0	0	0	0	0	1	3673	697	25	2		2	COL14A1	8	121259910	Silent	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	22231132	121259910	25104112	28	26498											
COL22A1	169044	hgsc.bcm.edu	37	8	139824126	139824127	+	In_Frame_Ins	INS	-	-	GGTGGA	rs548885226	byFrequency	TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr8:139824126_139824127insGGTGGA	ENST00000303045.6	-	9	1810_1811	c.1364_1365insTCCACC	c.(1363-1365)ccc>ccTCCACCc	p.455_455P>PPP	COL22A1_ENST00000435777.1_In_Frame_Ins_p.455_455P>PPP	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	455	Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCTGGGGTGGGGGTGGAGGTGG	0.599										HNSCC(7;0.00092)				22	0.00439297	0.0008	0.013	5008	,	,		8677	0.0		0.0119	False		,,,				2504	0.0															0										10,4142		2,6,2068						-2.7	0			16	104,7944		5,94,3925	no	coding	COL22A1	NM_152888.1		7,100,5993	A1A1,A1R,RR		1.2922,0.2408,0.9344				114,12086				SO:0001652	inframe_insertion	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1359_1364dupTCCACC	8.37:g.139824127_139824132dupGGTGGA	ENSP00000303153:p.ProPro457dup		B7ZMH0|C9K0G4|Q8IVT9	In_Frame_Ins	INS	ENST00000303045.6	37	CCDS6376.1																																																																																				0.599	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		GGTGGA	139824127	-	GGTGGA	139824126	7	5	491	1	0	1	1	0	0	0	0	0	3683	1219	43	0	3743	0	COL22A1	8	139824126	In_Frame_Ins	INS	-	TCGA-CJ-4638-01A-02D-1386-10	18564216	139824126	6539896	29	26499											
KCNV2	169522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2729659	2729659	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr9:2729659G>A	ENST00000382082.3	+	2	1808	c.1570G>A	c.(1570-1572)Gcc>Acc	p.A524T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	524					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.A524T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CATGCAGAGAGCCAGAAAGAA	0.453																																																2	Substitution - Missense(2)	NS(1)|kidney(1)											114	104	107					9																	2729659		2203	4300	6503	SO:0001583	missense	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1570G>A	9.37:g.2729659G>A	ENSP00000371514:p.Ala524Thr		Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197423	0.94960	.	.	ENSG00000168263	ENST00000382082	D	0.96992	-4.2	5.37	5.37	0.77165	.	1.184800	0.06247	N	0.691438	D	0.96414	0.8830	M	0.77820	2.39	0.80722	D	1	P	0.40660	0.726	B	0.35607	0.206	D	0.91557	0.5261	10	0.52906	T	0.07	.	19.47	0.94959	0.0:0.0:1.0:0.0	.	524	Q8TDN2	KCNV2_HUMAN	T	524	ENSP00000371514:A524T	ENSP00000371514:A524T	A	+	1	0	KCNV2	2719659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.951000	0.87819	2.681000	0.91329	0.655000	0.94253	GCC		0.453	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		A	2729659	G	A	2729659	3	1	491	1	0	0	0	0	1	0	0	0	8097	971	34	2	1576	2	KCNV2	9	2729659	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10		2729659	138483772	30	26500											
IL33	90865	broad.mit.edu;ucsc.edu	37	9	6251225	6251225	+	Silent	SNP	C	C	G			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr9:6251225C>G	ENST00000381434.3	+	3	316	c.303C>G	c.(301-303)gtC>gtG	p.V101V	IL33_ENST00000456383.2_Silent_p.V101V|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	101	Interaction with RELA. {ECO:0000250}.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)	p.V101V(1)		breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TATCAGGGGTCCAGAAATATA	0.502																																																1	Substitution - coding silent(1)	kidney(1)											177	160	165					9																	6251225		2203	4300	6503	SO:0001819	synonymous_variant	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.303C>G	9.37:g.6251225C>G			B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Silent	SNP	ENST00000381434.3	37	CCDS6468.1																																																																																				0.502	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		G	6251225	C	G	6251225	2	3	491	1	0	0	0	0	0	0	0	1	7695	842	30	4		4	IL33	9	6251225	Silent	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	3521566	6251225	134962206	31	26501											
MSMP	692094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35753713	35753713	+	Silent	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr9:35753713G>A	ENST00000436428.2	-	2	322	c.183C>T	c.(181-183)cgC>cgT	p.R61R	MSMP_ENST00000414286.1_5'UTR|RP11-112J3.15_ENST00000425499.2_RNA|RGP1_ENST00000378078.4_3'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	61						cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.R61R(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						AACAGTCCTTGCGGAGCCAAG	0.512																																																1	Substitution - coding silent(1)	kidney(1)											45	46	46					9																	35753713		2058	4215	6273	SO:0001819	synonymous_variant	692094			DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.183C>T	9.37:g.35753713G>A				Missense_Mutation	SNP	ENST00000436428.2	37	CCDS43797.1																																																																																				0.512	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		A	35753713	G	A	35753713	2	1	491	1	0	0	0	0	0	0	0	1	9886	1306	46	2		2	MSMP	9	35753713	Silent	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	29502488	35753713	105459718	32	26502											
SPTAN1	6709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131371420	131371420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr9:131371420C>T	ENST00000372731.4	+	36	4725	c.4615C>T	c.(4615-4617)Cag>Tag	p.Q1539*	SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.Q1539*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q1539*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1539					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q1539*(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCTGAAAGCCCAGATGATTGA	0.488																																					NSCLC(120;833 1744 2558 35612 37579)											1	Substitution - Nonsense(1)	kidney(1)											116	112	113					9																	131371420		2203	4300	6503	SO:0001587	stop_gained	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4615C>T	9.37:g.131371420C>T	ENSP00000361816:p.Gln1539*		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	45	11.525267	0.99572	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.65	5.65	0.86999	.	0.058821	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.7244	0.96157	0.0:1.0:0.0:0.0	.	.	.	.	X	1539;1539;1539;1519	.	ENSP00000350882:Q1539X	Q	+	1	0	SPTAN1	130411241	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.724000	0.68500	2.659000	0.90383	0.655000	0.94253	CAG		0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131371420	C	T	131371420	4	4	491	1	0	0	0	0	0	1	0	0	15122	595	21	2	4753	2	SPTAN1	9	131371420	Nonsense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	95617707	131371420	9842011	33	26503											
SEC24C	9632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75520019	75520019	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr10:75520019G>A	ENST00000339365.2	+	6	887	c.725G>A	c.(724-726)aGc>aAc	p.S242N	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Missense_Mutation_p.S100N|SEC24C_ENST00000411652.2_Missense_Mutation_p.S100N|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.S242N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	242					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.S242N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCCTCAGTGAGCCAGCCCAAC	0.642																																																1	Substitution - Missense(1)	kidney(1)											79	83	82					10																	75520019		2203	4300	6503	SO:0001583	missense	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.725G>A	10.37:g.75520019G>A	ENSP00000343405:p.Ser242Asn		B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	9.951	1.220085	0.22373	.	.	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;D	0.82711	-1.2;-1.2;-1.64	5.63	1.42	0.22433	.	0.449627	0.26311	N	0.025105	T	0.68183	0.2973	L	0.29908	0.895	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.51942	-0.8641	10	0.23302	T	0.38	-0.7522	6.0773	0.19923	0.3284:0.2068:0.4648:0.0	.	100;242;242	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	N	100;242;242;100	ENSP00000321845:S242N;ENSP00000343405:S242N;ENSP00000402913:S100N	ENSP00000343405:S242N	S	+	2	0	SEC24C	75190025	0.778000	0.28640	0.998000	0.56505	0.995000	0.86356	0.818000	0.27295	0.055000	0.16094	0.561000	0.74099	AGC		0.642	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			A	75520019	G	A	75520019	3	1	491	1	0	0	0	0	1	0	0	0	14002	971	34	2	739	2	SEC24C	10	75520019	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10		75520019	60014728	34	26504											
PTPMT1	114971	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47593082	47593082	+	Silent	SNP	C	C	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr11:47593082C>A	ENST00000326674.9	+	4	529	c.507C>A	c.(505-507)atC>atA	p.I169I	PTPMT1_ENST00000426530.2_Missense_Mutation_p.P142T|PTPMT1_ENST00000326656.8_Silent_p.I105I|PTPMT1_ENST00000534775.1_3'UTR|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000527079.2_3'UTR	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	169	Tyrosine-protein phosphatase.				cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.I169I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						GGTCATACATCCACATCAGGC	0.478																																																1	Substitution - coding silent(1)	kidney(1)											99	94	96					11																	47593082		1918	4137	6055	SO:0001819	synonymous_variant	114971			BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.507C>A	11.37:g.47593082C>A			E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Missense_Mutation	SNP	ENST00000326674.9	37	CCDS41643.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.877081	0.51801	.	.	ENSG00000110536	ENST00000426530	.	.	.	6.03	5.11	0.69529	.	.	.	.	.	T	0.50684	0.1630	.	.	.	0.80722	D	1	B	0.28850	0.225	B	0.24394	0.053	T	0.53337	-0.8453	7	0.87932	D	0	-11.3485	13.1472	0.59470	0.0:0.9258:0.0:0.0742	.	142	E9PAT8	.	T	142	.	ENSP00000410272:P142T	P	+	1	0	PTPMT1	47549658	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	1.694000	0.37752	1.547000	0.49401	0.655000	0.94253	CCA		0.478	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879		A	47593082	C	A	47593082	2	1	491	1	0	0	0	0	0	0	0	1	12784	855	30	4		4	PTPMT1	11	47593082	Silent	SNP	C	TCGA-CJ-4638-01A-02D-1386-10		47593082	87413434	35	26505											
OR4C12	283093	broad.mit.edu;hgsc.bcm.edu	37	11	50003858	50003858	+	Silent	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr11:50003858G>A	ENST00000335238.4	-	1	213	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F60F(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGTGGGTCAGGAAGAAGTACA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											64	67	66					11																	50003858		2201	4296	6497	SO:0001819	synonymous_variant	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.180C>T	11.37:g.50003858G>A			B2RNF0|Q6IF49	Silent	SNP	ENST00000335238.4	37	CCDS31496.1																																																																																				0.408	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		A	50003858	G	A	50003858	2	1	491	1	0	0	0	0	0	0	0	1	11048	1165	41	2		2	OR4C12	11	50003858	Silent	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	2410776	50003858	85002658	36	26506											
CACNA1C	775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2778099	2778099	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr12:2778099C>T	ENST00000347598.4	+	40	4768	c.4768C>T	c.(4768-4770)Cgc>Tgc	p.R1590C	CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399641.1_Splice_Site_p.R1542C|CACNA1C_ENST00000399638.1_Splice_Site_p.R1570C|CACNA1C_ENST00000399649.1_Splice_Site_p.R1529C|CACNA1C_ENST00000399603.1_Splice_Site_p.R1542C|CACNA1C_ENST00000399634.1_Splice_Site_p.R1542C|CACNA1C_ENST00000399629.1_Splice_Site_p.R1559C|CACNA1C_ENST00000399655.1_Splice_Site_p.R1542C|CACNA1C_ENST00000399621.1_Splice_Site_p.R1542C|CACNA1C_ENST00000406454.3_Splice_Site_p.R1542C|CACNA1C_ENST00000399595.1_Splice_Site_p.R1531C|CACNA1C_ENST00000402845.3_Splice_Site_p.R1542C|CACNA1C_ENST00000327702.7_Splice_Site_p.R1542C|CACNA1C_ENST00000399597.1_Splice_Site_p.R1542C|CACNA1C_ENST00000344100.3_Splice_Site_p.R1564C|CACNA1C_ENST00000399637.1_Splice_Site_p.R1542C|CACNA1C_ENST00000399617.1_Splice_Site_p.R1542C|CACNA1C_ENST00000399644.1_Splice_Site_p.R1542C|CACNA1C_ENST00000399601.1_Splice_Site_p.R1542C|CACNA1C_ENST00000335762.5_Splice_Site_p.R1567C|CACNA1C_ENST00000399591.1_Splice_Site_p.R1531C|CACNA1C_ENST00000399606.1_Splice_Site_p.R1562C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1590					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1590C(1)|p.R1564C(1)|p.R1077C(1)|p.R1542C(1)|p.R1620C(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCGCCTGCAGCGCCTGGTCTC	0.572																																																5	Substitution - Missense(5)	kidney(5)											95	96	96					12																	2778099		2197	4298	6495	SO:0001630	splice_region_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4768-1C>T	12.37:g.2778099C>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065211	0.76187	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97016	-4.15;-4.14;-4.13;-4.15;-4.14;-4.17;-4.06;-4.09;-4.14;-4.08;-4.06;-4.14;-4.2;-4.07;-3.98;-4.21;-4.16;-4.14;-4.15;-4.08;-4.15;-4.2	3.71	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.946;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;P;D;D;D;D;D	0.91635	0.996;0.995;0.998;0.998;0.997;0.999;0.998;0.999;0.999;0.977;0.999;0.998;0.532;0.999;0.993;0.998;0.995;0.998;0.999;0.854;0.998;0.999;0.999;0.999;0.998	D	0.98951	1.0794	9	.	.	.	.	16.106	0.81223	0.0:1.0:0.0:0.0	.	233;1564;1539;1590;1542;1542;1542;1559;1570;1542;1562;1542;1502;1590;1542;1542;1542;1531;1529;1531;1531;1542;1542;1542;1542	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1567;1542;1542;1570;1542;1542;1542;1531;1542;1590;1562;1542;1564;1559;1542;1529;1542;1542;1542;1542;1542;1531;1372	ENSP00000336982:R1567C;ENSP00000382563:R1542C;ENSP00000382552:R1542C;ENSP00000382547:R1570C;ENSP00000382506:R1542C;ENSP00000382530:R1542C;ENSP00000382546:R1542C;ENSP00000382500:R1531C;ENSP00000382549:R1542C;ENSP00000266376:R1590C;ENSP00000382515:R1562C;ENSP00000382510:R1542C;ENSP00000341092:R1564C;ENSP00000382537:R1559C;ENSP00000329877:R1542C;ENSP00000382557:R1529C;ENSP00000385724:R1542C;ENSP00000382512:R1542C;ENSP00000382542:R1542C;ENSP00000382526:R1542C;ENSP00000385896:R1542C;ENSP00000382504:R1531C	.	R	+	1	0	CACNA1C	2648360	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.754000	0.68743	2.083000	0.62718	0.552000	0.68991	CGC		0.572	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	Missense_Mutation	T	2778099	C	T	2778099	5	4	491	1	0	0	0	0	0	0	1	0	2542	782	27	1	5100	1	CACNA1C	12	2778099	Splice_Site	SNP	C	TCGA-CJ-4638-01A-02D-1386-10		2778099	131073796	37	26507											
ANO2	57101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	5672713	5672713	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr12:5672713C>T	ENST00000356134.5	-	27	2823	c.2752G>A	c.(2752-2754)Gtc>Atc	p.V918I	ANO2_ENST00000546188.1_Missense_Mutation_p.V918I|ANO2_ENST00000327087.8_Missense_Mutation_p.V917I	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	922					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.V918I(2)|p.V917I(2)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCCACGAGGACGCTCAGGAAC	0.557																																																4	Substitution - Missense(4)	kidney(2)|endometrium(2)											85	79	81					12																	5672713		1968	4163	6131	SO:0001583	missense	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2752G>A	12.37:g.5672713C>T	ENSP00000348453:p.Val918Ile		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	C	6.220	0.408776	0.11812	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000543568	T;T;T	0.62941	-0.01;-0.01;-0.01	4.79	4.79	0.61399	.	0.141486	0.48767	D	0.000165	T	0.40743	0.1129	N	0.04746	-0.17	0.31993	N	0.604406	B	0.24651	0.108	B	0.15484	0.013	T	0.39522	-0.9610	10	0.21014	T	0.42	.	17.1807	0.86854	0.0:1.0:0.0:0.0	.	917	Q9NQ90-3	.	I	917;918;918;922;5	ENSP00000314048:V917I;ENSP00000348453:V918I;ENSP00000440981:V918I	ENSP00000314048:V917I	V	-	1	0	ANO2	5542974	0.000000	0.05858	0.994000	0.49952	0.962000	0.63368	0.462000	0.21956	2.369000	0.80426	0.555000	0.69702	GTC		0.557	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		T	5672713	C	T	5672713	3	4	491	1	0	0	0	0	1	0	0	0	697	536	19	1	251	1	ANO2	12	5672713	Missense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	2894614	5672713	128179182	38	26508											
ETV6	2120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	11905414	11905414	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr12:11905414A>T	ENST00000396373.4	+	2	338	c.64A>T	c.(64-66)Agc>Tgc	p.S22C	ETV6_ENST00000544715.1_3'UTR	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	22					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S22C(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACCTCCAGAGAGCCCAGTGCC	0.547			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	1	Substitution - Missense(1)	kidney(1)											90	84	86					12																	11905414		2203	4300	6503	SO:0001583	missense	2120			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.64A>T	12.37:g.11905414A>T	ENSP00000379658:p.Ser22Cys		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.818856	0.90873	.	.	ENSG00000139083	ENST00000396373	T	0.09723	2.95	5.73	5.73	0.89815	Sterile alpha motif/pointed domain (1);	0.143629	0.64402	D	0.000008	T	0.10252	0.0251	L	0.29908	0.895	0.47476	D	0.999437	B	0.24963	0.115	B	0.17098	0.017	T	0.07385	-1.0775	10	0.52906	T	0.07	.	15.6788	0.77352	1.0:0.0:0.0:0.0	.	22	P41212	ETV6_HUMAN	C	22	ENSP00000379658:S22C	ENSP00000379658:S22C	S	+	1	0	ETV6	11796681	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.384000	0.73177	2.186000	0.69663	0.533000	0.62120	AGC		0.547	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		T	11905414	A	T	11905414	3	4	491	1	0	0	0	0	1	0	0	0	5285	304	11	5	70	5	ETV6	12	11905414	Missense_Mutation	SNP	A	TCGA-CJ-4638-01A-02D-1386-10	6232701	11905414	121946481	39	26509											
KLHDC5	57542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	27933951	27933951	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr12:27933951T>C	ENST00000381271.2	+	1	999	c.688T>C	c.(688-690)Ttc>Ctc	p.F230L	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	230					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.F230L(1)									TGAGCGTTGGTTCCCGCTGGC	0.637																																																1	Substitution - Missense(1)	kidney(1)											76	56	63					12																	27933951		2203	4300	6503	SO:0001583	missense	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.688T>C	12.37:g.27933951T>C	ENSP00000370671:p.Phe230Leu		Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	CCDS31763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.99|15.99	2.994140|2.994140	0.54041|0.54041	.|.	.|.	ENSG00000087448|ENSG00000087448	ENST00000381271|ENST00000543254	T|.	0.65178|.	-0.14|.	4.73|4.73	2.29|2.29	0.28610|0.28610	Kelch-type beta propeller (1);|.	0.344763|.	0.30781|.	N|.	0.008895|.	T|T	0.16041|0.16041	0.0386|0.0386	N|N	0.02539|0.02539	-0.55|-0.55	0.33912|0.33912	D|D	0.639838|0.639838	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.23013|0.23013	-1.0200|-1.0200	10|5	0.09338|.	T|.	0.73|.	.|.	6.3285|6.3285	0.21257|0.21257	0.0:0.3567:0.0:0.6433|0.0:0.3567:0.0:0.6433	.|.	230|.	Q9P2K6|.	KLDC5_HUMAN|.	L|A	230|51	ENSP00000370671:F230L|.	ENSP00000370671:F230L|.	F|V	+|+	1|2	0|0	KLHDC5|KLHDC5	27825218|27825218	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.358000|1.358000	0.34102|0.34102	0.845000|0.845000	0.35118|0.35118	0.477000|0.477000	0.44152|0.44152	TTC|GTT		0.637	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		C	27933951	T	C	27933951	3	2	491	1	0	0	0	0	1	0	0	0	8361	1725	60	3	690	3	KLHDC5	12	27933951	Missense_Mutation	SNP	T	TCGA-CJ-4638-01A-02D-1386-10	16028537	27933951	105917944	40	26510											
ABCD2	225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	39980001	39980001	+	Missense_Mutation	SNP	C	C	G	rs151149571	byFrequency	TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr12:39980001C>G	ENST00000308666.3	-	7	1880	c.1745G>C	c.(1744-1746)cGt>cCt	p.R582P		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	582	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.R582P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTGTAGGATACGTTCCAGATC	0.363																																																1	Substitution - Missense(1)	kidney(1)											191	159	170					12																	39980001		2203	4300	6503	SO:0001583	missense	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1745G>C	12.37:g.39980001C>G	ENSP00000310688:p.Arg582Pro		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	1.376	-0.584760	0.03827	.	.	ENSG00000173208	ENST00000308666	D	0.94046	-3.34	4.63	-1.75	0.08031	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.359530	0.04251	N	0.338576	D	0.89897	0.6848	L	0.52823	1.66	0.09310	N	1	B	0.21147	0.052	B	0.30179	0.112	T	0.74121	-0.3767	9	.	.	.	-17.52	2.3556	0.04294	0.1372:0.4061:0.0958:0.3608	.	582	Q9UBJ2	ABCD2_HUMAN	P	582	ENSP00000310688:R582P	.	R	-	2	0	ABCD2	38266268	0.000000	0.05858	0.004000	0.12327	0.119000	0.20118	-0.557000	0.05985	-0.094000	0.12374	-0.424000	0.05967	CGT		0.363	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		G	39980001	C	G	39980001	3	3	491	1	0	0	0	0	1	0	0	0	61	536	19	4	493	4	ABCD2	12	39980001	Missense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	12046050	39980001	93871894	41	26511											
KL	9365	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33634984	33634984	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr13:33634984G>A	ENST00000380099.3	+	4	1776	c.1768G>A	c.(1768-1770)Gtt>Att	p.V590I	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	590	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.V590I(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGAAATGCACGTTACACATTT	0.517																																																1	Substitution - Missense(1)	kidney(1)											166	141	149					13																	33634984		2203	4300	6503	SO:0001583	missense	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1768G>A	13.37:g.33634984G>A	ENSP00000369442:p.Val590Ile		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	g	3.320	-0.138854	0.06669	.	.	ENSG00000133116	ENST00000380099	T	0.31769	1.48	5.44	0.784	0.18578	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.235838	0.42821	N	0.000655	T	0.25457	0.0619	L	0.53617	1.68	0.09310	N	1	B	0.27951	0.195	B	0.25884	0.064	T	0.17379	-1.0371	10	0.42905	T	0.14	-17.3704	9.7991	0.40753	0.4701:0.0:0.5299:0.0	.	590	Q9UEF7	KLOT_HUMAN	I	590	ENSP00000369442:V590I	ENSP00000369442:V590I	V	+	1	0	KL	32532984	0.994000	0.37717	0.001000	0.08648	0.001000	0.01503	2.837000	0.48191	0.313000	0.23062	-2.003000	0.00443	GTT		0.517	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			A	33634984	G	A	33634984	3	1	491	1	0	0	0	0	1	0	0	0	8333	1145	40	1	1782	1	KL	13	33634984	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10		33634984	81534894	42	26512											
HECTD1	25831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	31613394	31613394	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr14:31613394T>G	ENST00000399332.1	-	17	3189	c.2701A>C	c.(2701-2703)Aag>Cag	p.K901Q	RNU6-541P_ENST00000384709.1_RNA|HECTD1_ENST00000553700.1_Missense_Mutation_p.K901Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	901					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.K901Q(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTTTCATCCTTCAAAAGTACA	0.313																																																1	Substitution - Missense(1)	kidney(1)											46	45	45					14																	31613394		1823	4073	5896	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2701A>C	14.37:g.31613394T>G	ENSP00000382269:p.Lys901Gln		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618888	0.46736	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.65364	-0.15;-0.15;1.51;-0.15	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.58308	0.2113	N	0.04959	-0.14	0.80722	D	1	B;D	0.57899	0.099;0.981	B;D	0.67231	0.019;0.95	T	0.58612	-0.7606	10	0.14656	T	0.56	-9.4393	15.8889	0.79276	0.0:0.0:0.0:1.0	.	901;901	D3DS86;Q9ULT8	.;HECD1_HUMAN	Q	901;901;901;375;901	ENSP00000450697:K901Q;ENSP00000382269:K901Q;ENSP00000451860:K375Q;ENSP00000452015:K901Q	ENSP00000261312:K901Q	K	-	1	0	HECTD1	30683145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.143000	0.66587	0.533000	0.62120	AAG		0.313	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			G	31613394	T	G	31613394	3	3	491	1	0	0	0	0	1	0	0	0	7041	1792	62	5	5239	5	HECTD1	14	31613394	Missense_Mutation	SNP	T	TCGA-CJ-4638-01A-02D-1386-10		31613394	75736146	43	26513											
KIAA0586	9786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58949396	58949396	+	Missense_Mutation	SNP	C	C	T	rs367811307		TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr14:58949396C>T	ENST00000556134.1	+	22	3339	c.3065C>T	c.(3064-3066)tCt>tTt	p.S1022F	KIAA0586_ENST00000354386.6_Missense_Mutation_p.S1090F|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Missense_Mutation_p.S993F|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S961F	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1022					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.S961F(1)|p.S1090F(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAGGTGTTTCTGGGGATGCT	0.388																																																2	Substitution - Missense(2)	kidney(2)											121	120	120					14																	58949396		1852	4112	5964	SO:0001583	missense	9786			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3065C>T	14.37:g.58949396C>T	ENSP00000452351:p.Ser1022Phe		B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178245	0.38511	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.72	3.9	0.45041	.	1.213970	0.05662	N	0.587149	T	0.59032	0.2164	M	0.68317	2.08	0.09310	N	1	P;P;D;P;P;P	0.53151	0.681;0.681;0.958;0.925;0.799;0.799	B;B;P;P;B;B	0.53809	0.281;0.281;0.66;0.735;0.281;0.366	T	0.34004	-0.9846	10	0.62326	D	0.03	.	5.9295	0.19130	0.1425:0.6463:0.1373:0.074	.	897;897;1090;961;1022;993	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	F	1090;1022;993;961;897	ENSP00000346359:S1090F;ENSP00000452351:S1022F;ENSP00000399427:S993F;ENSP00000261244:S961F	ENSP00000261244:S961F	S	+	2	0	KIAA0586	58019149	0.888000	0.30383	0.147000	0.22382	0.008000	0.06430	2.805000	0.47939	0.768000	0.33290	-0.885000	0.02943	TCT		0.388	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		T	58949396	C	T	58949396	3	4	491	1	0	0	0	0	1	0	0	0	8188	913	32	2	2960	2	KIAA0586	14	58949396	Missense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	27336002	58949396	48400144	44	26514											
YLPM1	56252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75279329	75279329	+	Splice_Site	SNP	A	A	G			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr14:75279329A>G	ENST00000552421.1	+	10	3353		c.e10-1		YLPM1_ENST00000238571.3_Splice_Site|YLPM1_ENST00000325680.7_Splice_Site			P49750	YLPM1_HUMAN	YLP motif containing 1						regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.?(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTGGAATCCTAGGAGAACGAA	0.448																																																2	Unknown(2)	kidney(2)											36	37	37					14																	75279329		1945	4143	6088	SO:0001630	splice_region_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3230-1A>G	14.37:g.75279329A>G			P49752|Q96I64|Q9P1V7	Splice_Site	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.283193	0.80803	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6341	0.68676	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YLPM1	74349082	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	7.977000	0.88081	2.187000	0.69744	0.528000	0.53228	.		0.448	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	Intron	G	75279329	A	G	75279329	5	3	491	1	0	0	0	0	0	0	1	0	17491	434	15	3	5388	3	YLPM1	14	75279329	Splice_Site	SNP	A	TCGA-CJ-4638-01A-02D-1386-10	16329933	75279329	32070211	45	26515											
MOAP1	64112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	93650048	93650050	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr14:93650048_93650050delTTC	ENST00000556883.1	-	2	1022_1024	c.538_540delGAA	c.(538-540)gaadel	p.E180del	TMEM251_ENST00000415050.2_5'Flank|MOAP1_ENST00000298894.4_In_Frame_Del_p.E180del|TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	180					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		agcgtccaaattcttcttctcct	0.512																																																0																																										SO:0001651	inframe_deletion	64112			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.538_540delGAA	14.37:g.93650054_93650056delTTC	ENSP00000451594:p.Glu180del		B2RDF6|Q9H833|Q9HAS1	In_Frame_Del	DEL	ENST00000556883.1	37	CCDS9908.1																																																																																				0.512	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			-	93650050	TTC	-	93650048	7	5	491	1	0	1	0	1	0	0	0	0	9682	1490	52	0	519	0	MOAP1	14	93650048	In_Frame_Del	DEL	TTC	TCGA-CJ-4638-01A-02D-1386-10	18370719	93650048	13699492	46	26516											
TMEM87A	25963	broad.mit.edu;ucsc.edu	37	15	42529668	42529668	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr15:42529668T>A	ENST00000389834.4	-	9	1094	c.830A>T	c.(829-831)tAt>tTt	p.Y277F	TMEM87A_ENST00000448392.1_Missense_Mutation_p.Y216F	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	277						integral component of membrane (GO:0016021)		p.Y277F(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AAATTCCGCATAGAAGACAGC	0.433																																																1	Substitution - Missense(1)	kidney(1)											111	103	106					15																	42529668		2203	4299	6502	SO:0001583	missense	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.830A>T	15.37:g.42529668T>A	ENSP00000374484:p.Tyr277Phe		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867868	0.91587	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	M	0.74467	2.265	0.80722	D	1	D;P	0.89917	1.0;0.889	D;P	0.87578	0.998;0.749	T	0.79729	-0.1681	9	0.48119	T	0.1	-12.4336	16.1464	0.81575	0.0:0.0:0.0:1.0	.	277;216	Q8NBN3;Q8NBN3-3	TM87A_HUMAN;.	F	277;216;253	.	ENSP00000374484:Y277F	Y	-	2	0	TMEM87A	40316960	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.220000	0.72140	0.383000	0.25322	TAT		0.433	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		A	42529668	T	A	42529668	3	1	491	1	0	0	0	0	1	0	0	0	16215	1406	49	5	885	5	TMEM87A	15	42529668	Missense_Mutation	SNP	T	TCGA-CJ-4638-01A-02D-1386-10		42529668	60001724	47	26517											
NKD1	85407	broad.mit.edu;ucsc.edu	37	16	50664121	50664121	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr16:50664121A>G	ENST00000268459.3	+	7	711	c.487A>G	c.(487-489)Atc>Gtc	p.I163V		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	163	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I163V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GCTGCACACCATCTATGAGGT	0.572																																																1	Substitution - Missense(1)	kidney(1)											86	73	77					16																	50664121		2198	4300	6498	SO:0001583	missense	85407			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.487A>G	16.37:g.50664121A>G	ENSP00000268459:p.Ile163Val		B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443732	0.83993	.	.	ENSG00000140807	ENST00000268459	T	0.44482	0.92	4.85	4.85	0.62838	EF-hand-like domain (1);	0.049810	0.85682	D	0.000000	T	0.66858	0.2832	M	0.84326	2.69	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.73322	-0.4019	10	0.87932	D	0	-21.286	14.7298	0.69372	1.0:0.0:0.0:0.0	.	163	Q969G9	NKD1_HUMAN	V	163	ENSP00000268459:I163V	ENSP00000268459:I163V	I	+	1	0	NKD1	49221622	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.148000	0.94652	1.936000	0.56123	0.533000	0.62120	ATC		0.572	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			G	50664121	A	G	50664121	3	3	491	1	0	0	0	0	1	0	0	0	10443	217	8	3	513	3	NKD1	16	50664121	Missense_Mutation	SNP	A	TCGA-CJ-4638-01A-02D-1386-10		50664121	39690632	48	26518											
CNOT1	23019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58571103	58571106	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	TACT	TACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr16:58571103_58571106delTACT	ENST00000317147.5	-	39	5765_5768	c.5433_5436delAGTA	c.(5431-5436)gaagtafs	p.EV1811fs	CNOT1_ENST00000245138.4_Frame_Shift_Del_p.EV662fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.EV1806fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1811					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGGATCGCACTACTTCCATCAGCT	0.422																																																0																																										SO:0001589	frameshift_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5433_5436delAGTA	16.37:g.58571103_58571106delTACT	ENSP00000320949:p.Glu1811fs		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	CCDS10799.1																																																																																				0.422	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		-	58571106	TACT	-	58571103	7	5	491	1	0	1	0	1	0	0	0	0	3619	1509	53	0	1738	0	CNOT1	16	58571103	Frame_Shift_Del	DEL	TACT	TCGA-CJ-4638-01A-02D-1386-10	7906982	58571103	31783650	49	26519											
PER1	5187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8047092	8047092	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr17:8047092T>C	ENST00000317276.4	-	19	2801	c.2564A>G	c.(2563-2565)tAt>tGt	p.Y855C	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.Y832C	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	855	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.Y855C(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGTGAGACATAGCAGGGCGC	0.692			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	1	Substitution - Missense(1)	kidney(1)											33	37	36					17																	8047092		2203	4300	6503	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2564A>G	17.37:g.8047092T>C	ENSP00000314420:p.Tyr855Cys		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	T	6.260	0.416119	0.11870	.	.	ENSG00000179094	ENST00000317276	T	0.12569	2.67	5.24	0.515	0.17013	.	0.312394	0.32430	N	0.006116	T	0.06826	0.0174	N	0.19112	0.55	0.38767	D	0.954466	B	0.02656	0.0	B	0.04013	0.001	T	0.28332	-1.0047	10	0.38643	T	0.18	0.3024	4.0574	0.09823	0.1463:0.2526:0.0:0.6012	.	855	O15534	PER1_HUMAN	C	855	ENSP00000314420:Y855C	ENSP00000314420:Y855C	Y	-	2	0	PER1	7987817	0.425000	0.25498	0.235000	0.24058	0.503000	0.33858	0.310000	0.19356	0.017000	0.15025	-0.371000	0.07208	TAT		0.692	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			C	8047092	T	C	8047092	3	2	491	1	0	0	0	0	1	0	0	0	11731	1406	49	3	1328	3	PER1	17	8047092	Missense_Mutation	SNP	T	TCGA-CJ-4638-01A-02D-1386-10		8047092	73148118	50	26520											
KCNJ12	3768	hgsc.bcm.edu	37	17	21319527	21319527	+	Silent	SNP	C	C	T	rs80022364	byFrequency	TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr17:21319527C>T	ENST00000583088.1	+	3	1768	c.873C>T	c.(871-873)gaC>gaT	p.D291D	KCNJ12_ENST00000331718.5_Silent_p.D291D	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	291					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TGGAGACGGACGACTTTGAGA	0.617										Prostate(3;0.18)			.|||	2	0.000399361	0.0015	0.0	5008	,	,		35812	0.0		0.0	False		,,,				2504	0.0															0													96	88	91					17																	21319527		2203	4300	6503	SO:0001819	synonymous_variant	100134444			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.873C>T	17.37:g.21319527C>T			O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																				0.617	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		T	21319527	C	T	21319527	2	4	491	1	0	0	0	0	0	0	0	1	8048	535	19	1		1	KCNJ12	17	21319527	Silent	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	13272435	21319527	59875683	51	26521											
KCNJ12	3768	hgsc.bcm.edu	37	17	21319743	21319743	+	Silent	SNP	A	A	G	rs76267885	byFrequency	TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr17:21319743A>G	ENST00000583088.1	+	3	1984	c.1089A>G	c.(1087-1089)gtA>gtG	p.V363V	KCNJ12_ENST00000331718.5_Silent_p.V363V	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	363					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.V363V(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	AGGATCTGGTAGAGAACAAGT	0.577										Prostate(3;0.18)																																						1	Substitution - coding silent(1)	lung(1)											100	95	97					17																	21319743		2203	4300	6503	SO:0001819	synonymous_variant	100134444			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1089A>G	17.37:g.21319743A>G			O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																				0.577	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		G	21319743	A	G	21319743	2	3	491	1	0	0	0	0	0	0	0	1	8048	407	15	3		3	KCNJ12	17	21319743	Silent	SNP	A	TCGA-CJ-4638-01A-02D-1386-10	216	21319743	59875467	52	26522											
SLFN11	91607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33690266	33690266	+	Silent	SNP	C	C	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr17:33690266C>T	ENST00000394566.1	-	4	833	c.561G>A	c.(559-561)tcG>tcA	p.S187S	SLFN11_ENST00000308377.4_Silent_p.S187S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	187					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.S187S(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGCAGGATCCGAGTTTGGGT	0.413																																																1	Substitution - coding silent(1)	kidney(1)											122	124	124					17																	33690266		2203	4300	6503	SO:0001819	synonymous_variant	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.561G>A	17.37:g.33690266C>T			E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	CCDS11294.1																																																																																				0.413	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		T	33690266	C	T	33690266	2	4	491	1	0	0	0	0	0	0	0	1	14739	639	23	1		1	SLFN11	17	33690266	Silent	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	12370523	33690266	47504944	53	26523											
BCAS3	54828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	58786584	58786584	+	Silent	SNP	A	A	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr17:58786584A>T	ENST00000390652.5	+	5	250	c.219A>T	c.(217-219)acA>acT	p.T73T	BCAS3_ENST00000588462.1_Silent_p.T73T|BCAS3_ENST00000589222.1_Silent_p.T73T|BCAS3_ENST00000408905.3_Silent_p.T73T|BCAS3_ENST00000407086.3_Silent_p.T73T	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.T73T(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATGCAGATACATCAAGAAATC	0.343																																																1	Substitution - coding silent(1)	kidney(1)											102	87	92					17																	58786584		1849	4093	5942	SO:0001819	synonymous_variant	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.219A>T	17.37:g.58786584A>T				Silent	SNP	ENST00000390652.5	37	CCDS45749.1																																																																																				0.343	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		T	58786584	A	T	58786584	2	4	491	1	0	0	0	0	0	0	0	1	1352	204	8	5		5	BCAS3	17	58786584	Silent	SNP	A	TCGA-CJ-4638-01A-02D-1386-10	25096318	58786584	22408626	54	26524											
JMJD6	23210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74720100	74720100	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr17:74720100G>T	ENST00000397625.4	-	3	673	c.559C>A	c.(559-561)Cac>Aac	p.H187N	METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.H187N|JMJD6_ENST00000445478.2_Missense_Mutation_p.H187N|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000588822.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	187	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.H187N(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						GGGTCGATGTGAATCCCAGTT	0.507																																																2	Substitution - Missense(2)	kidney(2)											106	104	105					17																	74720100		1938	4144	6082	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.559C>A	17.37:g.74720100G>T	ENSP00000380750:p.His187Asn		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026418	0.93518	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	D;D	0.99259	-5.64;-5.64	5.35	5.35	0.76521	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.150898	0.64402	D	0.000017	D	0.99725	0.9893	H	0.98833	4.345	0.80722	D	1	D;D;D	0.69078	0.997;0.975;0.996	D;P;D	0.79784	0.993;0.89;0.988	D	0.97051	0.9764	10	0.87932	D	0	-8.3945	19.0951	0.93248	0.0:0.0:1.0:0.0	.	187;187;187	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	N	187	ENSP00000394085:H187N;ENSP00000380750:H187N	ENSP00000302916:H187N	H	-	1	0	JMJD6	72231695	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.855000	0.99526	2.491000	0.84063	0.643000	0.83706	CAC		0.507	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		T	74720100	G	T	74720100	3	4	491	1	0	0	0	0	1	0	0	0	7955	1290	45	4	709	4	JMJD6	17	74720100	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	15933516	74720100	6475110	55	26525											
PSMA8	143471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	23714010	23714010	+	Silent	SNP	G	G	A	rs570532077		TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr18:23714010G>A	ENST00000308268.6	+	1	170	c.81G>A	c.(79-81)gcG>gcA	p.A27A	PSMA8_ENST00000415576.2_Silent_p.A27A|PSMA8_ENST00000343848.6_Silent_p.A27A	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	27					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)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.A27A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCCAGGAAGCGGTGAAGAAAG	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16883	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											97	89	92					18																	23714010		2203	4300	6503	SO:0001819	synonymous_variant	143471			BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"Proteasome (prosome, macropain) subunits"	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.81G>A	18.37:g.23714010G>A			B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Silent	SNP	ENST00000308268.6	37	CCDS32808.1																																																																																				0.557	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		A	23714010	G	A	23714010	2	1	491	1	0	0	0	0	0	0	0	1	12678	1103	39	1		1	PSMA8	18	23714010	Silent	SNP	G	TCGA-CJ-4638-01A-02D-1386-10		23714010	54363238	56	26526											
FAM59A	64762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29867878	29867878	+	Missense_Mutation	SNP	G	G	C	rs370225304		TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr18:29867878G>C	ENST00000269209.6	-	4	685	c.682C>G	c.(682-684)Cag>Gag	p.Q228E	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Missense_Mutation_p.Q228E			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	228	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.Q228E(1)									TCTTGCATCTGAAGTTCCAGG	0.517																																																1	Substitution - Missense(1)	kidney(1)						G	GLU/GLN,GLU/GLN	1,4405	2.1+/-5.4	0,1,2202	138	117	124		682,682	5.7	1	18		124	0,8600		0,0,4300	no	missense,missense	FAM59A	NM_001242409.1,NM_022751.2	29,29	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign,benign	228/877,228/876	29867878	1,13005	2203	4300	6503	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.682C>G	18.37:g.29867878G>C	ENSP00000269209:p.Gln228Glu		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549955	0.86127	2.27E-4	0.0	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15139	2.45;2.45	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	L	0.55481	1.735	0.80722	D	1	D;D	0.63046	0.992;0.97	D;P	0.76071	0.987;0.798	T	0.06006	-1.0851	10	0.72032	D	0.01	-25.6247	20.1095	0.97908	0.0:0.0:1.0:0.0	.	228;228	Q9H706;Q9H706-3	FA59A_HUMAN;.	E	228	ENSP00000382165:Q228E;ENSP00000269209:Q228E	ENSP00000269209:Q228E	Q	-	1	0	FAM59A	28121876	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.357000	0.97099	2.831000	0.97527	0.655000	0.94253	CAG		0.517	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		C	29867878	G	C	29867878	3	2	491	1	0	0	0	0	1	0	0	0	5594	1299	45	4	1957	4	FAM59A	18	29867878	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	6153868	29867878	48209370	57	26527											
DENND1C	79958	broad.mit.edu;ucsc.edu	37	19	6467951	6467951	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr19:6467951G>C	ENST00000381480.2	-	23	2082	c.1970C>G	c.(1969-1971)tCc>tGc	p.S657C	DENND1C_ENST00000543576.1_Missense_Mutation_p.S613C	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	657					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S683C(1)|p.S657C(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AGCTGTTGAGGACTGGGATGG	0.557																																																2	Substitution - Missense(2)	kidney(2)											52	54	53					19																	6467951		2017	4162	6179	SO:0001583	missense	79958			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1970C>G	19.37:g.6467951G>C	ENSP00000370889:p.Ser657Cys		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347062	0.24426	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.10573	3.03;2.86	4.18	-0.718	0.11205	.	24.883700	0.00166	N	0.000000	T	0.09335	0.0230	L	0.27053	0.805	0.09310	N	1	B	0.28512	0.214	B	0.25405	0.06	T	0.35724	-0.9777	10	0.62326	D	0.03	0.1265	7.4608	0.27294	0.365:0.0:0.635:0.0	.	657	Q8IV53	DEN1C_HUMAN	C	657;613	ENSP00000370889:S657C;ENSP00000437805:S613C	ENSP00000370889:S657C	S	-	2	0	DENND1C	6418951	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.149000	0.16243	-0.216000	0.10048	0.298000	0.19748	TCC		0.557	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		C	6467951	G	C	6467951	3	2	491	1	0	0	0	0	1	0	0	0	4430	1174	41	4	439	4	DENND1C	19	6467951	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10		6467951	52661032	58	26528											
ZNF844	284391	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12186656	12186656	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr19:12186656C>A	ENST00000439326.3	+	4	896	c.721C>A	c.(721-723)Caa>Aaa	p.Q241K	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q241K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AACTTCCCTTCAAATACATGA	0.368																																																1	Substitution - Missense(1)	kidney(1)											34	32	33					19																	12186656		692	1591	2283	SO:0001583	missense	284391			AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.721C>A	19.37:g.12186656C>A	ENSP00000392024:p.Gln241Lys		Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.385928	0.25031	.	.	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505;ENST00000550826	T;T	0.35605	2.76;1.3	2.5	-2.34	0.06704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09598	0.0236	N	0.01454	-0.855	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.36311	-0.9753	9	0.05959	T	0.93	.	5.5519	0.17095	0.3137:0.2565:0.4298:0.0	.	241	Q08AG5	ZN844_HUMAN	K	241;241;216;84	ENSP00000392024:Q241K;ENSP00000448588:Q84K	ENSP00000392024:Q241K	Q	+	1	0	ZNF844	12047656	0.000000	0.05858	0.000000	0.03702	0.412000	0.31113	-0.369000	0.07533	-0.072000	0.12864	0.205000	0.17691	CAA		0.368	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			A	12186656	C	A	12186656	3	1	491	1	0	0	0	0	1	0	0	0	18195	827	29	4	735	4	ZNF844	19	12186656	Missense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	5718705	12186656	46942327	59	26529											
HOOK2	29911	broad.mit.edu	37	19	12883813	12883813	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr19:12883813G>C	ENST00000397668.3	-	4	323	c.250C>G	c.(250-252)Cag>Gag	p.Q84E	HOOK2_ENST00000264827.5_Missense_Mutation_p.Q84E|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	84	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.Q84E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CTCACATCCTGGGAGTACTCT	0.557																																																1	Substitution - Missense(1)	kidney(1)											83	80	81					19																	12883813		1903	4106	6009	SO:0001583	missense	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.250C>G	19.37:g.12883813G>C	ENSP00000380785:p.Gln84Glu		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237238	0.39498	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.18174	2.23;2.23	3.66	2.57	0.30868	.	0.220521	0.38959	N	0.001511	T	0.20700	0.0498	M	0.74881	2.28	0.27900	N	0.939	B;B	0.29378	0.204;0.243	B;B	0.34452	0.073;0.183	T	0.17623	-1.0363	10	0.16420	T	0.52	-20.6551	10.943	0.47285	0.0:0.0:0.8034:0.1966	.	84;84	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	E	84	ENSP00000380785:Q84E;ENSP00000264827:Q84E	ENSP00000264827:Q84E	Q	-	1	0	HOOK2	12744813	1.000000	0.71417	0.987000	0.45799	0.884000	0.51177	4.659000	0.61504	0.555000	0.29079	0.555000	0.69702	CAG		0.557	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		C	12883813	G	C	12883813	3	2	491	1	0	0	0	0	1	0	0	0	7285	1357	47	4	1989	4	HOOK2	19	12883813	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	697157	12883813	46245170	60	26530											
OR10H5	284433	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15904911	15904911	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr19:15904911C>G	ENST00000308940.8	+	1	151	c.53C>G	c.(52-54)tCt>tGt	p.S18C		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S18C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GTTGGCTTCTCTGCCTTCCCC	0.572																																																1	Substitution - Missense(1)	kidney(1)											253	211	225					19																	15904911		2203	4300	6503	SO:0001583	missense	284433			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.53C>G	19.37:g.15904911C>G	ENSP00000310704:p.Ser18Cys		Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.960603	0.34565	.	.	ENSG00000172519	ENST00000308940	T	0.01106	5.33	3.45	3.45	0.39498	.	0.000000	0.49305	D	0.000151	T	0.08358	0.0208	M	0.90198	3.095	0.30252	N	0.793989	D	0.89917	1.0	D	0.91635	0.999	T	0.00904	-1.1520	10	0.87932	D	0	.	12.7772	0.57455	0.0:1.0:0.0:0.0	.	18	Q8NGA6	O10H5_HUMAN	C	18	ENSP00000310704:S18C	ENSP00000310704:S18C	S	+	2	0	OR10H5	15765911	0.000000	0.05858	0.930000	0.37139	0.245000	0.25701	0.966000	0.29331	1.637000	0.50538	0.573000	0.79308	TCT		0.572	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			G	15904911	C	G	15904911	3	3	491	1	0	0	0	0	1	0	0	0	10911	913	32	4	55	4	OR10H5	19	15904911	Missense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	3021098	15904911	43224072	61	26531											
ZNF611	81856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53209500	53209500	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr19:53209500G>A	ENST00000319783.1	-	7	1124	c.808C>T	c.(808-810)Cac>Tac	p.H270Y	ZNF611_ENST00000453741.2_Missense_Mutation_p.H201Y|ZNF611_ENST00000602162.1_Missense_Mutation_p.H201Y|ZNF611_ENST00000543227.1_Missense_Mutation_p.H270Y|ZNF611_ENST00000595798.1_Missense_Mutation_p.H201Y|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Missense_Mutation_p.H270Y	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H270Y(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TATTGCTCGTGATTAAAGAGC	0.413																																																1	Substitution - Missense(1)	kidney(1)											182	178	179					19																	53209500		2203	4300	6503	SO:0001583	missense	81856			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.808C>T	19.37:g.53209500G>A	ENSP00000322427:p.His270Tyr		B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	1.672	-0.508772	0.04231	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.06528	3.29;3.29;3.29;3.29	1.2	-2.4	0.06583	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.25380	0.74	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.38156	-0.9674	9	0.41790	T	0.15	.	6.1684	0.20404	0.6045:0.0:0.3955:0.0	.	270	Q8N823	ZN611_HUMAN	Y	270;270;201;270	ENSP00000437616:H270Y;ENSP00000439211:H270Y;ENSP00000443505:H201Y;ENSP00000322427:H270Y	ENSP00000322427:H270Y	H	-	1	0	ZNF611	57901312	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.461000	0.01909	-2.696000	0.00138	CAC		0.413	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		A	53209500	G	A	53209500	3	1	491	1	0	0	0	0	1	0	0	0	18042	1290	45	2	1313	2	ZNF611	19	53209500	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	37304589	53209500	5919483	62	26532											
PEG3	5178	broad.mit.edu;ucsc.edu	37	19	57330017	57330017	+	Missense_Mutation	SNP	G	G	T	rs80150589	byFrequency	TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr19:57330017G>T	ENST00000326441.9	-	8	1086	c.723C>A	c.(721-723)caC>caA	p.H241Q	PEG3_ENST00000598410.1_Missense_Mutation_p.H116Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.H116Q|PEG3_ENST00000423103.2_Missense_Mutation_p.H241Q|ZIM2_ENST00000601070.1_Missense_Mutation_p.H116Q|ZIM2_ENST00000599935.1_Missense_Mutation_p.H116Q|PEG3_ENST00000593695.1_Missense_Mutation_p.H115Q|ZIM2_ENST00000593711.1_Missense_Mutation_p.H116Q|ZIM2_ENST00000391708.3_Missense_Mutation_p.H116Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	241					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H241Q(2)|p.H116Q(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGATTGTGTTGTGAGGTTTCC	0.493													G|||	7	0.00139776	0.0053	0.0	5008	,	,		17872	0.0		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	kidney(3)						G	GLN/HIS,GLN/HIS,GLN/HIS,GLN/HIS,GLN/HIS,GLN/HIS,GLN/HIS,GLN/HIS	7,4399	12.9+/-30.5	0,7,2196	358	290	313		723,345,723,348,348,348,723,348	3	1	19	dbSNP_131	313	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	24,24,24,24,24,24,24,24	0,7,6496	TT,TG,GG		0.0,0.1589,0.0538	benign,benign,benign,benign,benign,benign,benign,benign	241/1589,115/1463,241/1589,116/1465,116/528,116/528,241/1589,116/528	57330017	7,12999	2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.723C>A	19.37:g.57330017G>T	ENSP00000326581:p.His241Gln		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.74	2.625235	0.46840	0.001589	0.0	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.03330	3.97;3.97;4.39;4.39	4.0	2.96	0.34315	.	0.177425	0.27636	N	0.018492	T	0.01353	0.0044	N	0.01576	-0.805	.	.	.	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.34403	-0.9830	9	0.09590	T	0.72	-27.7987	9.4612	0.38785	0.0:0.7417:0.2583:0.0	.	116;241;175;116	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	Q	116;116;241;241;241	ENSP00000375589:H116Q;ENSP00000221722:H116Q;ENSP00000326581:H241Q;ENSP00000403051:H241Q	ENSP00000221722:H116Q	H	-	3	2	ZIM2	62021829	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.599000	0.24089	1.278000	0.44430	0.557000	0.71058	CAC		0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			T	57330017	G	T	57330017	3	4	491	1	0	0	0	0	1	0	0	0	11722	1368	48	4	4058	4	PEG3	19	57330017	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	4120517	57330017	1798966	63	26533											
PREX1	57580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47309286	47309286	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr20:47309286G>C	ENST00000371941.3	-	8	982	c.960C>G	c.(958-960)atC>atG	p.I320M	PREX1_ENST00000396220.1_Missense_Mutation_p.I320M	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	320	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I320M(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGGAGCCGTTGATGGATTTGG	0.542																																																2	Substitution - Missense(2)	kidney(2)											281	222	242					20																	47309286		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.960C>G	20.37:g.47309286G>C	ENSP00000361009:p.Ile320Met		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678920	0.47886	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	D;D	0.88354	-2.37;-2.37	5.5	4.54	0.55810	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.56097	U	0.000035	T	0.79690	0.4489	N	0.04508	-0.205	0.58432	D	0.999999	P	0.36837	0.571	B	0.38921	0.285	T	0.82068	-0.0640	10	0.52906	T	0.07	.	16.5982	0.84802	0.0:0.1305:0.8695:0.0	.	320	Q8TCU6	PREX1_HUMAN	M	320	ENSP00000361009:I320M;ENSP00000379522:I320M	ENSP00000361009:I320M	I	-	3	3	PREX1	46742693	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.917000	0.48821	1.433000	0.47394	0.650000	0.86243	ATC		0.542	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		C	47309286	G	C	47309286	3	2	491	1	0	0	0	0	1	0	0	0	12481	1280	45	4	4151	4	PREX1	20	47309286	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10		47309286	15716234	64	26534											
BMP7	655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	55803435	55803435	+	Missense_Mutation	SNP	C	C	A	rs535214572		TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr20:55803435C>A	ENST00000395863.3	-	2	966	c.461G>T	c.(460-462)cGa>cTa	p.R154L	BMP7_ENST00000395864.3_Missense_Mutation_p.R154L|BMP7_ENST00000450594.2_Missense_Mutation_p.R154L	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	154					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)	p.R154L(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCGGAACTCTCGATGGTGGTA	0.512																																																1	Substitution - Missense(1)	kidney(1)											168	165	166					20																	55803435		2203	4300	6503	SO:0001583	missense	655				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.461G>T	20.37:g.55803435C>A	ENSP00000379204:p.Arg154Leu		Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662083	0.88251	.	.	ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594	T;T;T	0.64618	-0.11;-0.11;-0.11	5.33	5.33	0.75918	Transforming growth factor-beta, N-terminal (1);	0.049704	0.85682	D	0.000000	T	0.69115	0.3075	L	0.49513	1.565	0.80722	D	1	P;P;P	0.46512	0.76;0.59;0.879	B;B;P	0.53593	0.193;0.258;0.73	T	0.62353	-0.6872	10	0.20519	T	0.43	.	19.3842	0.94550	0.0:1.0:0.0:0.0	.	154;154;154	B1AKZ9;P18075;B1AL00	.;BMP7_HUMAN;.	L	154	ENSP00000379204:R154L;ENSP00000379205:R154L;ENSP00000398687:R154L	ENSP00000379204:R154L	R	-	2	0	BMP7	55236842	0.949000	0.32298	0.979000	0.43373	0.941000	0.58515	2.281000	0.43452	2.644000	0.89710	0.655000	0.94253	CGA		0.512	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			A	55803435	C	A	55803435	3	1	491	1	0	0	0	0	1	0	0	0	1465	884	31	4	858	4	BMP7	20	55803435	Missense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	8494149	55803435	7222085	65	26535											
MCM3AP	8888	broad.mit.edu;hgsc.bcm.edu	37	21	47692488	47692488	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr21:47692488C>T	ENST00000397708.1	-	9	2706	c.2452G>A	c.(2452-2454)Gga>Aga	p.G818R	MCM3AP_ENST00000291688.1_Missense_Mutation_p.G818R			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	818	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.G818R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGGATGTCTCCCTTGTTGAGA	0.498																																																1	Substitution - Missense(1)	kidney(1)											145	127	133					21																	47692488		2203	4300	6503	SO:0001583	missense	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2452G>A	21.37:g.47692488C>T	ENSP00000380820:p.Gly818Arg		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052832	0.55218	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.30981	1.51;1.51	5.72	4.84	0.62591	.	0.096427	0.64402	D	0.000001	T	0.46983	0.1421	L	0.43598	1.365	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.34129	-0.9841	10	0.36615	T	0.2	-32.0768	14.7567	0.69569	0.0:0.9309:0.0:0.0691	.	818	O60318	MCM3A_HUMAN	R	818	ENSP00000380820:G818R;ENSP00000291688:G818R	ENSP00000291688:G818R	G	-	1	0	MCM3AP	46516916	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	7.559000	0.82265	1.440000	0.47531	-0.140000	0.14226	GGA		0.498	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		T	47692488	C	T	47692488	3	4	491	1	0	0	0	0	1	0	0	0	9390	632	22	2	3574	2	MCM3AP	21	47692488	Missense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10		47692488	437407	66	26536											
CECR2	27443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	17978494	17978494	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr22:17978494G>T	ENST00000400573.5	+	4	399	c.392G>T	c.(391-393)gGg>gTg	p.G131V	CECR2_ENST00000262608.8_Missense_Mutation_p.G112V|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000342247.5_Missense_Mutation_p.G111V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	153					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.G131V(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GACAATTCTGGGGCACTATAT	0.488																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											94	90	91					22																	17978494		1866	4110	5976	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.392G>T	22.37:g.17978494G>T	ENSP00000383417:p.Gly131Val		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400573.5	37		.	.	.	.	.	.	.	.	.	.	G	31	5.076467	0.94000	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.48201	0.82;0.82;0.82	6.01	6.01	0.97437	.	0.000000	0.36591	U	0.002510	T	0.73187	0.3555	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74671	-0.3587	10	0.87932	D	0	-13.9556	20.5141	0.99211	0.0:0.0:1.0:0.0	.	153	Q9BXF3	CECR2_HUMAN	V	111;131;112	ENSP00000341219:G111V;ENSP00000383417:G131V;ENSP00000262608:G112V	ENSP00000262608:G112V	G	+	2	0	CECR2	16358494	1.000000	0.71417	0.926000	0.36857	0.874000	0.50279	9.381000	0.97205	2.850000	0.98022	0.655000	0.94253	GGG		0.488	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316104.5	NM_031413		T	17978494	G	T	17978494	3	4	491	1	0	0	0	0	1	0	0	0	3208	1232	43	4	344	4	CECR2	22	17978494	Missense_Mutation	SNP	G	TCGA-CJ-4638-01A-02D-1386-10		17978494	33326072	67	26537											
SLC7A4	6545	broad.mit.edu	37	22	21385373	21385373	+	Silent	SNP	G	G	C			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr22:21385373G>C	ENST00000382932.2	-	2	796	c.729C>G	c.(727-729)tcC>tcG	p.S243S	SLC7A4_ENST00000403586.1_Silent_p.S243S|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	243					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.S243S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CATAGAAGCAGGAGGCAGTGC	0.637																																																1	Substitution - coding silent(1)	kidney(1)											50	47	48					22																	21385373		2203	4300	6503	SO:0001819	synonymous_variant	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.729C>G	22.37:g.21385373G>C			Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	ENST00000382932.2	37	CCDS33608.1																																																																																				0.637	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		C	21385373	G	C	21385373	2	2	491	1	0	0	0	0	0	0	0	1	14705	987	35	4		4	SLC7A4	22	21385373	Silent	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	3406879	21385373	29919193	68	26538											
NF2	4771	broad.mit.edu;hgsc.bcm.edu	37	22	30050715	30050715	+	Splice_Site	SNP	G	G	C			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chr22:30050715G>C	ENST00000338641.4	+	5	957		c.e5+1		NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000361452.4_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(9)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TCCAAAAAGGGTAAGAGATTA	0.423			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	9	Unknown(9)	meninges(3)|kidney(2)|large_intestine(1)|soft_tissue(1)|central_nervous_system(1)|stomach(1)	GRCh37	CS951485	NF2	S							108	108	108					22																	30050715		2203	4300	6503	SO:0001630	splice_region_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.516+1G>C	22.37:g.30050715G>C			O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894105	0.91889	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3325	0.98724	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28380715	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.705000	0.98719	2.805000	0.96524	0.655000	0.94253	.		0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	C	30050715	G	C	30050715	5	2	491	1	0	0	0	0	0	0	1	0	10359	1275	44	4	535	4	NF2	22	30050715	Splice_Site	SNP	G	TCGA-CJ-4638-01A-02D-1386-10	8665342	30050715	21253851	69	26539											
FAM47A	158724	hgsc.bcm.edu	37	X	34149658	34149693	+	In_Frame_Del	DEL	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	-	rs367563899|rs201090915|rs201363312|rs373732464		TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chrX:34149658_34149693delATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	ENST00000346193.3	-	1	754_789	c.703_738delCTCCGCCCGGAGCCTCCAGAGACTGGAGTGTCCCAT	c.(703-738)ctccgcccggagcctccagagactggagtgtcccatdel	p.LRPEPPETGVSH235del		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	235	Pro-rich.							p.L235_H246delLRPEPPETGVSH(1)|p.P240P(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCGGGCGGATATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAGATGGGACACT	0.627														5	0.0013245	0.0	0.0	3775	,	,		15035	0.0		0.004	False		,,,				2504	0.001															2	Substitution - coding silent(1)|Deletion - In frame(1)	ovary(1)|lung(1)								33,3667		0,20,13,1562,523						-0.3	0			32	98,6373		2,62,32,2290,1731	no	coding	FAM47A	NM_203408.3		2,82,45,3852,2254	A1A1,A1R,A1,RR,R		1.5144,0.8919,1.288				131,10040				SO:0001651	inframe_deletion	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.703_738delCTCCGCCCGGAGCCTCCAGAGACTGGAGTGTCCCAT	X.37:g.34149658_34149693delATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	ENSP00000345029:p.Leu235_His246del		A8K8I9|Q8TAA0	In_Frame_Del	DEL	ENST00000346193.3	37	CCDS43926.1																																																																																				0.627	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		-	34149693	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	-	34149658	7	5	491	1	0	1	0	1	0	0	0	0	5571	446	16	0	1641	0	FAM47A	23	34149658	In_Frame_Del	DEL	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	TCGA-CJ-4638-01A-02D-1386-10		34149658	121120902	70	26540											
USP51	158880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	55514571	55514571	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chrX:55514571C>T	ENST00000500968.3	-	2	884	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	268					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E268K(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TGCTTTGTTTCTGCATGTTTG	0.393																																																1	Substitution - Missense(1)	kidney(1)											135	120	125					X																	55514571		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.802G>A	X.37:g.55514571C>T	ENSP00000423333:p.Glu268Lys		Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	3.613	-0.079114	0.07141	.	.	ENSG00000247746	ENST00000500968	T	0.43294	0.95	3.18	2.29	0.28610	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.211954	0.37530	U	0.002056	T	0.12902	0.0313	N	0.01297	-0.9	0.33713	D	0.616051	B	0.18741	0.03	B	0.28139	0.086	T	0.20940	-1.0260	10	0.07813	T	0.8	.	5.1627	0.15070	0.0:0.7151:0.0:0.2849	.	268	Q70EK9	UBP51_HUMAN	K	268	ENSP00000423333:E268K	ENSP00000423333:E268K	E	-	1	0	USP51	55531296	1.000000	0.71417	0.953000	0.39169	0.318000	0.28184	3.734000	0.55037	0.707000	0.31934	0.502000	0.49764	GAA		0.393	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		T	55514571	C	T	55514571	3	4	491	1	0	0	0	0	1	0	0	0	17088	922	32	2	1337	2	USP51	23	55514571	Missense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	21364913	55514571	99755989	71	26541											
ATP7A	538	hgsc.bcm.edu	37	X	77284798	77284799	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chrX:77284798_77284799insA	ENST00000341514.6	+	15	3123_3124	c.2968_2969insA	c.(2968-2970)caafs	p.Q990fs	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Frame_Shift_Ins_p.Q912fs	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	990					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATTTGCTTTCCAAGCCTCTATC	0.431																																																0																																										SO:0001589	frameshift_variant	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2970dupA	X.37:g.77284800_77284800dupA	ENSP00000345728:p.Gln990fs		B1AT72|O00227|O00745|Q9BYY8	Frame_Shift_Ins	INS	ENST00000341514.6	37	CCDS35339.1																																																																																				0.431	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		A	77284799	-	A	77284798	7	5	491	1	0	1	1	0	0	0	0	0	1190	595	21	0	3022	0	ATP7A	23	77284798	Frame_Shift_Ins	INS	-	TCGA-CJ-4638-01A-02D-1386-10	21770227	77284798	77985762	72	26542											
COL4A5	1287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107924995	107924995	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chrX:107924995C>T	ENST00000361603.2	+	45	4319	c.4075C>T	c.(4075-4077)Cct>Tct	p.P1359S	COL4A5_ENST00000328300.6_Missense_Mutation_p.P1365S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1359	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.P1359S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CATAGGTCCTCCTGGATTACC	0.463									Alport syndrome with Diffuse Leiomyomatosis																																							2	Substitution - Missense(2)	breast(1)|kidney(1)											133	118	123					X																	107924995		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4075C>T	X.37:g.107924995C>T	ENSP00000354505:p.Pro1359Ser		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559496	0.65538	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93019	-3.15;-3.15	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.96571	0.9423	10	0.52906	T	0.07	.	17.4297	0.87536	0.0:1.0:0.0:0.0	.	1362;1359	E7EVY4;P29400	.;CO4A5_HUMAN	S	1365;1359;1365	ENSP00000331902:P1365S;ENSP00000354505:P1359S	ENSP00000331902:P1365S	P	+	1	0	COL4A5	107811651	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.772000	0.75001	2.128000	0.65567	0.506000	0.49869	CCT		0.463	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			T	107924995	C	T	107924995	3	4	491	1	0	0	0	0	1	0	0	0	3696	855	30	2	4264	2	COL4A5	23	107924995	Missense_Mutation	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	30640197	107924995	47345565	73	26543											
ZCCHC16	340595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	111698754	111698754	+	Silent	SNP	C	C	T			TCGA-CJ-4638-01A-02D-1386-10	TCGA-CJ-4638-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cbc187b0-fafe-4b1f-9af0-6714942414ab	e87fd364-fa8b-43c5-a572-8b136f8f2086	g.chrX:111698754C>T	ENST00000340433.2	+	1	1028	c.798C>T	c.(796-798)ctC>ctT	p.L266L		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	266							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L266L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGCTGCCTCTCACCCCAGCCA	0.547																																																1	Substitution - coding silent(1)	kidney(1)											73	75	74					X																	111698754		2203	4300	6503	SO:0001819	synonymous_variant	340595			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.798C>T	X.37:g.111698754C>T			B2RPG1	Silent	SNP	ENST00000340433.2	37	CCDS35369.1																																																																																				0.547	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		T	111698754	C	T	111698754	2	4	491	1	0	0	0	0	0	0	0	1	17589	813	29	2		2	ZCCHC16	23	111698754	Silent	SNP	C	TCGA-CJ-4638-01A-02D-1386-10	3773759	111698754	43571806	74	26544											
TPRG1L	127262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	3545158	3545158	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr1:3545158A>G	ENST00000378344.2	+	5	881	c.810A>G	c.(808-810)atA>atG	p.I270M	TPRG1L_ENST00000344579.5_Missense_Mutation_p.I211M	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	270						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GGGGCAAAATAGGCTTTTAGC	0.617																																																0													59	52	55					1																	3545158		2203	4299	6502	SO:0001583	missense	127262			BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"family with sequence similarity 79, member A"	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.810A>G	1.37:g.3545158A>G	ENSP00000367595:p.Ile270Met		A8K1K4|Q8WV04	Missense_Mutation	SNP	ENST00000378344.2	37	CCDS47.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.409029	0.62399	.	.	ENSG00000158109	ENST00000378344;ENST00000456805;ENST00000344579	.	.	.	5.3	-10.6	0.00265	.	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	M	0.78049	2.395	0.51012	D	0.999904	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.77555	-0.2544	9	0.87932	D	0	-1.0215	7.8447	0.29419	0.2227:0.4043:0.0:0.373	.	211;270	Q5T0D9-2;Q5T0D9	.;TPRGL_HUMAN	M	270;227;211	.	ENSP00000339714:I211M	I	+	3	3	TPRG1L	3535018	0.590000	0.26815	0.198000	0.23420	0.786000	0.44442	-0.221000	0.09202	-1.722000	0.01377	-0.333000	0.08304	ATA		0.617	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1	NM_182752		G	3545158	A	G	3545158	3	3	492	1	0	0	0	0	1	0	0	0	16424	410	15	3	828	3	TPRG1L	1	3545158	Missense_Mutation	SNP	A	TCGA-CJ-4639-01A-02D-1386-10		3545158	245705463	1	26545											
PTCHD2	57540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11594487	11594488	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr1:11594487_11594488GC>AT	ENST00000294484.6	+	18	3563_3564	c.3425_3426GC>AT	c.(3424-3426)cGC>cAT	p.R1142H	PTCHD2_ENST00000304391.6_Silent_p.28_29AL>AL|PTCHD2_ENST00000389575.3_Missense_Mutation_p.R1142H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1142					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GACTACCTGCGCTGGGAGAGCT	0.619																																																0																																										SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	Exception_encountered	1.37:g.11594487_11594488delinsAT	ENSP00000294484:p.Arg1142His		Q5VTU9|Q9UJD6	Missense_Mutation|Silent	SNP	ENST00000294484.6	37	CCDS41247.1																																																																																				0.619	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		AT	11594488	GC	AT	11594487	3	1	492	1	0	0	0	0	1	0	0	0	12738	1087	38	1	3491	1	PTCHD2	1	11594487	Missense_Mutation	DNP	GC	TCGA-CJ-4639-01A-02D-1386-10	8049329	11594487	237656134	2	26546											
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19445444	19445444	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr1:19445444T>G	ENST00000375254.3	-	71	10490	c.10463A>C	c.(10462-10464)gAg>gCg	p.E3488A	UBR4_ENST00000375267.2_Missense_Mutation_p.E3488A|UBR4_ENST00000375226.2_Missense_Mutation_p.E3464A|UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375217.2_Missense_Mutation_p.E3481A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3488					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGTGAATACTCCTTCAACTG	0.388																																																0													109	102	104					1																	19445444		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10463A>C	1.37:g.19445444T>G	ENSP00000364403:p.Glu3488Ala		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.835677	0.71373	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	M	0.62088	1.915	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.73582	-0.3937	10	0.39692	T	0.17	.	15.0884	0.72174	0.0:0.0:0.0:1.0	.	3488	Q5T4S7	UBR4_HUMAN	A	3488;3488;3481;3464	ENSP00000364403:E3488A;ENSP00000364416:E3488A;ENSP00000364365:E3481A;ENSP00000364374:E3464A	ENSP00000364365:E3481A	E	-	2	0	UBR4	19318031	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.698000	0.84413	2.244000	0.73946	0.528000	0.53228	GAG		0.388	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		G	19445444	T	G	19445444	3	3	492	1	0	0	0	0	1	0	0	0	16909	1551	54	5	5232	5	UBR4	1	19445444	Missense_Mutation	SNP	T	TCGA-CJ-4639-01A-02D-1386-10	7850957	19445444	229805177	3	26547											
SMG5	23381	hgsc.bcm.edu	37	1	156252471	156252473	+	Start_Codon_Del	DEL	TGG	TGG	-			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	TGG	TGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr1:156252471_156252473delTGG	ENST00000361813.5	-	0	143_145				SMG5_ENST00000368267.5_Start_Codon_Del|TMEM79_ENST00000405535.2_5'Flank|TMEM79_ENST00000295694.5_5'Flank|TMEM79_ENST00000357501.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCTTGGCTCATGGTGCCCGGGTC	0.709																																																0																																										SO:0001582	initiator_codon_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491		1.37:g.156252471_156252473delTGG			D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Frame_Shift_Del	DEL	ENST00000361813.5	37	CCDS1137.1																																																																																				0.709	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		-	156252473	TGG	-	156252471	7	5	492	1	0	1	0	1	0	0	0	0	14802	1464	51	0	3137	0	SMG5	1	156252471	Start_Codon_Del	DEL	TGG	TCGA-CJ-4639-01A-02D-1386-10	136807027	156252471	92998150	4	26548											
POU2F1	5451	broad.mit.edu;ucsc.edu	37	1	167365546	167365546	+	Silent	SNP	G	G	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr1:167365546G>A	ENST00000541643.3	+	11	1104	c.942G>A	c.(940-942)ggG>ggA	p.G314G	POU2F1_ENST00000367862.5_Silent_p.G326G|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Silent_p.G337G|POU2F1_ENST00000452019.1_3'UTR|POU2F1_ENST00000429375.2_Silent_p.G274G|POU2F1_ENST00000420254.3_Silent_p.G314G			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	314	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCGCTATGGGGAAACTATATG	0.448																																																0													211	191	198					1																	167365546		2203	4300	6503	SO:0001819	synonymous_variant	5451			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.942G>A	1.37:g.167365546G>A			B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Silent	SNP	ENST00000541643.3	37																																																																																					0.448	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		A	167365546	G	A	167365546	2	1	492	1	0	0	0	0	0	0	0	1	12273	1161	41	2		2	POU2F1	1	167365546	Silent	SNP	G	TCGA-CJ-4639-01A-02D-1386-10	11113075	167365546	81885075	5	26549											
RGS2	5997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	192780679	192780679	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr1:192780679G>T	ENST00000235382.5	+	5	620	c.589G>T	c.(589-591)Gac>Tac	p.D197Y		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	197	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						ATTCTACCAGGACTTGTGTAA	0.438																																					Pancreas(71;51 2183 4981)											0													133	137	136					1																	192780679		2203	4300	6503	SO:0001583	missense	5997			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"Regulators of G-protein signaling", "Endogenous ligands"	9998	protein-coding gene	gene with protein product		600861	"regulator of G-protein signalling 2, 24kD", "regulator of G-protein signalling 2, 24kDa", "regulator of G-protein signaling 2, 24kDa"	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.589G>T	1.37:g.192780679G>T	ENSP00000235382:p.Asp197Tyr		Q6I9U5	Missense_Mutation	SNP	ENST00000235382.5	37	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298854	0.81025	.	.	ENSG00000116741	ENST00000235382	T	0.65364	-0.15	5.97	5.97	0.96955	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.088688	0.85682	D	0.000000	T	0.76870	0.4048	M	0.76002	2.32	0.49051	D	0.999743	D	0.67145	0.996	P	0.57548	0.823	T	0.78653	-0.2120	10	0.87932	D	0	.	18.9877	0.92779	0.0:0.0:1.0:0.0	.	197	P41220	RGS2_HUMAN	Y	197	ENSP00000235382:D197Y	ENSP00000235382:D197Y	D	+	1	0	RGS2	191047302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.715000	0.68430	2.828000	0.97474	0.655000	0.94253	GAC		0.438	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		T	192780679	G	T	192780679	3	4	492	1	0	0	0	0	1	0	0	0	13308	1174	41	4	607	4	RGS2	1	192780679	Missense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10	25415133	192780679	56469942	6	26550											
NUCKS1	64710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205696856	205696856	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr1:205696856G>C	ENST00000367142.4	-	3	447	c.145C>G	c.(145-147)Cga>Gga	p.R49G		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	49						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTTCCAGATCGCCTCTTATTT	0.408																																																0													122	113	116					1																	205696856		2203	4300	6503	SO:0001583	missense	64710				CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.145C>G	1.37:g.205696856G>C	ENSP00000356110:p.Arg49Gly		Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Missense_Mutation	SNP	ENST00000367142.4	37	CCDS30987.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077523	0.76528	.	.	ENSG00000069275	ENST00000367142	T	0.23348	1.91	5.59	4.64	0.57946	.	0.069288	0.53938	D	0.000050	T	0.38931	0.1059	L	0.38175	1.15	0.49130	D	0.999754	D	0.56968	0.978	D	0.70487	0.969	T	0.04360	-1.0957	10	0.42905	T	0.14	-4.8142	13.8519	0.63501	0.0:0.0:0.8476:0.1524	.	49	Q9H1E3	NUCKS_HUMAN	G	49	ENSP00000356110:R49G	ENSP00000356110:R49G	R	-	1	2	NUCKS1	203963479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.999000	0.40806	2.621000	0.88768	0.650000	0.86243	CGA		0.408	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087729.1	NM_022731		C	205696856	G	C	205696856	3	2	492	1	0	0	0	0	1	0	0	0	10722	1095	38	4	606	4	NUCKS1	1	205696856	Missense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10	12916177	205696856	43553765	7	26551											
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	216019306	216019306	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr1:216019306G>A	ENST00000307340.3	-	45	9301	c.8915C>T	c.(8914-8916)tCt>tTt	p.S2972F	USH2A_ENST00000366943.2_Missense_Mutation_p.S2972F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2972	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATTTTTAGAGAGTCGTTTGA	0.403										HNSCC(13;0.011)																																						0													98	95	96					1																	216019306		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8915C>T	1.37:g.216019306G>A	ENSP00000305941:p.Ser2972Phe		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154564	0.57259	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58797	0.31;0.31	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000481	T	0.75700	0.3885	M	0.76838	2.35	0.49798	D	0.999825	D	0.89917	1.0	D	0.97110	1.0	T	0.68853	-0.5299	10	0.09338	T	0.73	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	2972	O75445	USH2A_HUMAN	F	2972	ENSP00000305941:S2972F;ENSP00000355910:S2972F	ENSP00000305941:S2972F	S	-	2	0	USH2A	214085929	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.740000	0.68629	2.793000	0.96121	0.655000	0.94253	TCT		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		A	216019306	G	A	216019306	3	1	492	1	0	0	0	0	1	0	0	0	17041	942	33	2	6805	2	USH2A	1	216019306	Missense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10	10322450	216019306	33231315	8	26552											
C2orf86	51057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63401948	63401948	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr2:63401948G>C	ENST00000272321.7	-	15	2462	c.1935C>G	c.(1933-1935)gaC>gaG	p.D645E	WDPCP_ENST00000398544.3_Missense_Mutation_p.D486E|WDPCP_ENST00000409199.1_Missense_Mutation_p.D453E|WDPCP_ENST00000409120.1_Missense_Mutation_p.D453E	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	645					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TATCCCCTCTGTCCAAGGGTC	0.413																																																0													120	109	112					2																	63401948		1845	4093	5938	SO:0001583	missense	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1935C>G	2.37:g.63401948G>C	ENSP00000272321:p.Asp645Glu		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550763	0.45383	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.77229	-1.08;-0.5;-0.5;-0.5	5.58	2.71	0.32032	.	0.513578	0.17076	N	0.187992	T	0.63510	0.2517	L	0.32530	0.975	0.80722	D	1	B;B	0.14805	0.006;0.011	B;B	0.15484	0.006;0.013	T	0.62305	-0.6882	10	0.62326	D	0.03	-1.7988	4.5901	0.12302	0.172:0.0:0.635:0.193	.	645;486	O95876;O95876-3	FRITZ_HUMAN;.	E	645;453;453;486	ENSP00000272321:D645E;ENSP00000386592:D453E;ENSP00000386769:D453E;ENSP00000381552:D486E	ENSP00000272321:D645E	D	-	3	2	WDPCP	63255452	0.989000	0.36119	1.000000	0.80357	0.897000	0.52465	0.989000	0.29629	1.327000	0.45338	0.557000	0.71058	GAC		0.413	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		C	63401948	G	C	63401948	3	2	492	1	0	0	0	0	1	0	0	0	2203	1368	48	4	321	4	C2orf86	2	63401948	Missense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10		63401948	179797425	9	26553											
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141128833	141128833	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr2:141128833C>T	ENST00000389484.3	-	70	11761	c.10790G>A	c.(10789-10791)cGt>cAt	p.R3597H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3597	LDL-receptor class A 28. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATATATTCACGTGATGAGCA	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													35	35	35					2																	141128833		2201	4290	6491	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10790G>A	2.37:g.141128833C>T	ENSP00000374135:p.Arg3597His		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468242	0.63625	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95342	-3.68	5.5	5.5	0.81552	.	0.057767	0.64402	D	0.000002	D	0.88078	0.6340	N	0.05050	-0.12	0.24955	N	0.991767	P	0.37038	0.579	B	0.34991	0.193	T	0.82248	-0.0551	10	0.51188	T	0.08	.	19.3873	0.94563	0.0:1.0:0.0:0.0	.	3597	Q9NZR2	LRP1B_HUMAN	H	3597;3535	ENSP00000374135:R3597H	ENSP00000374135:R3597H	R	-	2	0	LRP1B	140845303	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.811000	0.47986	2.578000	0.87016	0.591000	0.81541	CGT		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141128833	C	T	141128833	3	4	492	1	0	0	0	0	1	0	0	0	8957	536	19	1	3097	1	LRP1B	2	141128833	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	77726885	141128833	102070540	10	26554											
COL3A1	1281	hgsc.bcm.edu;ucsc.edu	37	2	189856440	189856440	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr2:189856440delG	ENST00000304636.3	+	13	1113	c.943delG	c.(943-945)gggfs	p.G315fs	COL3A1_ENST00000317840.5_Frame_Shift_Del_p.G315fs	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	315	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGACTTCCTGGGGCTGCAGT	0.433																																																0													107	120	115					2																	189856440		2203	4300	6503	SO:0001589	frameshift_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.943delG	2.37:g.189856440delG	ENSP00000304408:p.Gly315fs		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Frame_Shift_Del	DEL	ENST00000304636.3	37	CCDS2297.1																																																																																				0.433	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		-	189856440	G	-	189856440	7	5	492	1	0	1	0	1	0	0	0	0	3690	1348	47	0	993	0	COL3A1	2	189856440	Frame_Shift_Del	DEL	G	TCGA-CJ-4639-01A-02D-1386-10	48727607	189856440	53342933	11	26555											
DNAH7	56171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	196750888	196750888	+	Nonsense_Mutation	SNP	G	G	A	rs201737013		TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr2:196750888G>A	ENST00000312428.6	-	34	5615	c.5515C>T	c.(5515-5517)Cga>Tga	p.R1839*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1839					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAAGTTTCTCGATCATTTCTC	0.403																																																0								G	stop/ARG	0,3756		0,0,1878	158	158	158		5515	2.8	1	2		158	4,8226		0,4,4111	yes	stop-gained	DNAH7	NM_018897.2		0,4,5989	AA,AG,GG		0.0486,0.0,0.0334		1839/4025	196750888	4,11982	1878	4115	5993	SO:0001587	stop_gained	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5515C>T	2.37:g.196750888G>A	ENSP00000311273:p.Arg1839*		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	44	10.904488	0.99486	0.0	4.86E-4	ENSG00000118997	ENST00000312428	.	.	.	4.81	2.85	0.33270	.	0.257153	0.28057	N	0.016780	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	11.54	0.50661	0.0:0.1344:0.7266:0.139	.	.	.	.	X	1839	.	ENSP00000311273:R1839X	R	-	1	2	DNAH7	196459133	0.939000	0.31865	0.996000	0.52242	0.457000	0.32468	1.645000	0.37238	1.125000	0.41998	0.557000	0.71058	CGA		0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		A	196750888	G	A	196750888	4	1	492	1	0	0	0	0	0	1	0	0	4608	1066	37	1	6687	1	DNAH7	2	196750888	Nonsense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10	6894448	196750888	46448485	12	26556											
MCM2	4171	broad.mit.edu;hgsc.bcm.edu	37	3	127337930	127337930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr3:127337930G>T	ENST00000265056.7	+	13	2318	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	692					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CAGCAACAAGGAGGAGGAGGG	0.617																																																0													33	31	31					3																	127337930		2203	4300	6503	SO:0001587	stop_gained	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2074G>T	3.37:g.127337930G>T	ENSP00000265056:p.Glu692*		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Nonsense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.587146|7.587146	0.98374|0.98374	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	.|.	.|.	.|.	3.06|3.06	1.73|1.73	0.24493|0.24493	.|.	0.138507|.	0.64402|.	D|.	0.000004|.	.|T	.|0.37348	.|0.1000	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.41502	.|-0.9505	.|3	0.18710|.	T|.	0.47|.	-23.7054|-23.7054	5.1379|5.1379	0.14945|0.14945	0.274:0.0:0.726:0.0|0.274:0.0:0.726:0.0	.|.	.|.	.|.	.|.	X|S	692;596;742|623	.|.	ENSP00000265056:E692X|.	E|R	+|+	1|3	0|2	MCM2|MCM2	128820620|128820620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	4.701000|4.701000	0.61810|0.61810	0.252000|0.252000	0.21531|0.21531	0.591000|0.591000	0.81541|0.81541	GAG|AGG		0.617	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			T	127337930	G	T	127337930	4	4	492	1	0	0	0	0	0	1	0	0	9388	1175	41	4	2124	4	MCM2	3	127337930	Nonsense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10		127337930	70684500	13	26557											
TRIM42	287015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	140401925	140401925	+	Silent	SNP	C	C	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr3:140401925C>T	ENST00000286349.3	+	2	1154	c.963C>T	c.(961-963)caC>caT	p.H321H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	321						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.H321H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACAATGGCCACGACACCATTA	0.552																																																1	Substitution - coding silent(1)	large_intestine(1)											224	194	204					3																	140401925		2203	4300	6503	SO:0001819	synonymous_variant	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.963C>T	3.37:g.140401925C>T			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	CCDS3113.1																																																																																				0.552	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		T	140401925	C	T	140401925	2	4	492	1	0	0	0	0	0	0	0	1	16522	535	19	1		1	TRIM42	3	140401925	Silent	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	13063995	140401925	57620505	14	26558											
OTOL1	131149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	161221335	161221335	+	Missense_Mutation	SNP	G	G	C	rs182735973	byFrequency	TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr3:161221335G>C	ENST00000327928.4	+	4	1039	c.1039G>C	c.(1039-1041)Gct>Cct	p.A347P		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	347	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGCTTTCAGCGCTGGTTTGTC	0.517																																																0													45	43	43					3																	161221335		1866	4099	5965	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1039G>C	3.37:g.161221335G>C	ENSP00000330808:p.Ala347Pro			Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074586	0.36566	.	.	ENSG00000182447	ENST00000327928	D	0.89485	-2.52	5.23	5.23	0.72850	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.122703	0.56097	D	0.000023	D	0.95608	0.8572	M	0.92691	3.335	0.41734	D	0.989574	D	0.89917	1.0	D	0.79108	0.992	D	0.95396	0.8486	10	0.35671	T	0.21	.	17.3955	0.87444	0.0:0.0:1.0:0.0	.	347	A6NHN0	OTOL1_HUMAN	P	347	ENSP00000330808:A347P	ENSP00000330808:A347P	A	+	1	0	OTOL1	162704029	1.000000	0.71417	0.050000	0.19076	0.017000	0.09413	6.467000	0.73547	2.427000	0.82271	0.557000	0.71058	GCT		0.517	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		C	161221335	G	C	161221335	3	2	492	1	0	0	0	0	1	0	0	0	11306	1087	38	4	1053	4	OTOL1	3	161221335	Missense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10	20819410	161221335	36801095	15	26559											
PTPN13	5783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87662970	87662970	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr4:87662970G>T	ENST00000411767.2	+	16	2550		c.e16+1		PTPN13_ENST00000436978.1_Splice_Site|PTPN13_ENST00000427191.2_Splice_Site|PTPN13_ENST00000511467.1_Splice_Site|PTPN13_ENST00000316707.6_Splice_Site			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATCTTTTTCTGTATGTCCATT	0.373																																																0													77	70	72					4																	87662970		1846	4095	5941	SO:0001630	splice_region_variant	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2487+1G>T	4.37:g.87662970G>T			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Splice_Site	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018453	0.75275	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5833	0.95478	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPN13	87881994	1.000000	0.71417	0.991000	0.47740	0.708000	0.40852	9.188000	0.94921	2.612000	0.88384	0.655000	0.94253	.		0.373	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		Intron	T	87662970	G	T	87662970	5	4	492	1	0	0	0	0	0	0	1	0	12788	1391	48	4	2546	4	PTPN13	4	87662970	Splice_Site	SNP	G	TCGA-CJ-4639-01A-02D-1386-10		87662970	103491306	16	26560											
KIAA1109	84162	hgsc.bcm.edu;ucsc.edu	37	4	123265686	123265686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr4:123265686delA	ENST00000264501.4	+	74	13076	c.12703delA	c.(12703-12705)aaafs	p.K4235fs	KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.K4235fs			Q2LD37	K1109_HUMAN	KIAA1109	4235					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTCTGCAAGCAAAATGGATAC	0.318																																																0													128	121	123					4																	123265686		1842	4097	5939	SO:0001589	frameshift_variant	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12703delA	4.37:g.123265686delA	ENSP00000264501:p.Lys4235fs		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Del	DEL	ENST00000264501.4	37	CCDS43267.1																																																																																				0.318	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		-	123265686	A	-	123265686	7	5	492	1	0	1	0	1	0	0	0	0	8210	131	5	0	12989	0	KIAA1109	4	123265686	Frame_Shift_Del	DEL	A	TCGA-CJ-4639-01A-02D-1386-10	35602716	123265686	67888590	17	26561											
HHIP	64399	broad.mit.edu;hgsc.bcm.edu	37	4	145655993	145655993	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr4:145655993G>A	ENST00000296575.3	+	12	2516	c.1861G>A	c.(1861-1863)Gga>Aga	p.G621R		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	621	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CACCCCCACGGGAAAGTGCTG	0.537																																																0													71	70	70					4																	145655993		2203	4300	6503	SO:0001583	missense	64399			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1861G>A	4.37:g.145655993G>A	ENSP00000296575:p.Gly621Arg		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421285	0.96111	.	.	ENSG00000164161	ENST00000296575	T	0.70282	-0.47	6.05	6.05	0.98169	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85843	0.1399	10	0.62326	D	0.03	-20.5151	20.6013	0.99457	0.0:0.0:1.0:0.0	.	621	Q96QV1	HHIP_HUMAN	R	621	ENSP00000296575:G621R	ENSP00000296575:G621R	G	+	1	0	HHIP	145875443	1.000000	0.71417	0.430000	0.26722	0.938000	0.57974	9.476000	0.97823	2.878000	0.98634	0.650000	0.86243	GGA		0.537	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			A	145655993	G	A	145655993	3	1	492	1	0	0	0	0	1	0	0	0	7094	1233	43	2	1907	2	HHIP	4	145655993	Missense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10	22390307	145655993	45498283	18	26562											
TMEM144	55314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	159138498	159138499	+	Frame_Shift_Ins	INS	-	-	A	rs202038549		TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr4:159138498_159138499insA	ENST00000296529.6	+	5	778_779	c.258_259insA	c.(259-261)aaafs	p.K87fs	TMEM144_ENST00000514558.1_Frame_Shift_Ins_p.K87fs	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	87						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TCCCAATTATCAAAACCATTGG	0.327																																																0																																										SO:0001589	frameshift_variant	55314			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.262dupA	4.37:g.159138502_159138502dupA	ENSP00000296529:p.Lys87fs		D3DP24|Q49A05|Q9NUT3	Frame_Shift_Ins	INS	ENST00000296529.6	37	CCDS3799.1																																																																																				0.327	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		A	159138499	-	A	159138498	7	5	492	1	0	1	1	0	0	0	0	0	16063	816	29	0	268	0	TMEM144	4	159138498	Frame_Shift_Ins	INS	-	TCGA-CJ-4639-01A-02D-1386-10	13482505	159138498	32015778	19	26563											
SNX18	112574	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	53815390	53815390	+	Silent	SNP	C	C	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr5:53815390C>T	ENST00000326277.3	+	1	1798	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	SNX18_ENST00000343017.6_Silent_p.I536I|SNX18_ENST00000381410.4_Silent_p.I536I	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	536	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CGGACATCATCCACGTTCAGA	0.552																																																0													138	123	128					5																	53815390		2203	4300	6503	SO:0001819	synonymous_variant	112574			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1608C>T	5.37:g.53815390C>T			B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	ENST00000326277.3	37	CCDS3962.1																																																																																				0.552	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			T	53815390	C	T	53815390	2	4	492	1	0	0	0	0	0	0	0	1	14895	845	30	2		2	SNX18	5	53815390	Silent	SNP	C	TCGA-CJ-4639-01A-02D-1386-10		53815390	127099870	20	26564											
CENPH	64946	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	68505612	68505612	+	Missense_Mutation	SNP	G	G	T	rs375648256		TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr5:68505612G>T	ENST00000283006.2	+	9	817	c.730G>T	c.(730-732)Gtt>Ttt	p.V244F	CENPH_ENST00000515001.1_Missense_Mutation_p.V225F	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		TGAGAAGAATGTTGACATGAT	0.353																																																0													99	100	100					5																	68505612		2203	4299	6502	SO:0001583	missense	64946			AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.730G>T	5.37:g.68505612G>T	ENSP00000283006:p.Val244Phe			Missense_Mutation	SNP	ENST00000283006.2	37	CCDS3998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.537|9.537	1.112332|1.112332	0.20795|0.20795	.|.	.|.	ENSG00000153044|ENSG00000153044	ENST00000502689|ENST00000283006;ENST00000515001	.|.	.|.	.|.	5.25|5.25	2.52|2.52	0.30459|0.30459	.|.	.|0.243532	.|0.32918	.|N	.|0.005497	T|T	0.11879|0.11879	0.0289|0.0289	N|N	0.08118|0.08118	0|0	0.25971|0.25971	N|N	0.982493|0.982493	.|B;P	.|0.35433	.|0.0;0.501	.|B;B	.|0.27500	.|0.001;0.08	T|T	0.12656|0.12656	-1.0539|-1.0539	5|9	.|0.56958	.|D	.|0.05	-29.0802|-29.0802	5.388|5.388	0.16227|0.16227	0.0:0.4803:0.3424:0.1773|0.0:0.4803:0.3424:0.1773	.|.	.|225;244	.|B3KVZ3;Q9H3R5	.|.;CENPH_HUMAN	F|F	183|244;225	.|.	.|ENSP00000283006:V244F	C|V	+|+	2|1	0|0	CENPH|CENPH	68541368|68541368	0.969000|0.969000	0.33509|0.33509	0.872000|0.872000	0.34217|0.34217	0.210000|0.210000	0.24377|0.24377	0.189000|0.189000	0.17037|0.17037	0.905000|0.905000	0.36596|0.36596	-0.165000|-0.165000	0.13383|0.13383	TGT|GTT		0.353	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215083.1			T	68505612	G	T	68505612	3	4	492	1	0	0	0	0	1	0	0	0	3234	1377	48	4	764	4	CENPH	5	68505612	Missense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10	14690222	68505612	112409648	21	26565											
MAP1B	4131	hgsc.bcm.edu;ucsc.edu	37	5	71489932	71489932	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr5:71489932delA	ENST00000296755.7	+	5	1048	c.750delA	c.(748-750)acafs	p.T250fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	250					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AACCTCCCACATCGGGTGGAT	0.468																																					Melanoma(17;367 822 11631 31730 47712)											0													92	90	91					5																	71489932		2203	4300	6503	SO:0001589	frameshift_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.750delA	5.37:g.71489932delA	ENSP00000296755:p.Thr250fs		A2BDK5	Frame_Shift_Del	DEL	ENST00000296755.7	37	CCDS4012.1																																																																																				0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		-	71489932	A	-	71489932	7	5	492	1	0	1	0	1	0	0	0	0	9230	204	8	0	768	0	MAP1B	5	71489932	Frame_Shift_Del	DEL	A	TCGA-CJ-4639-01A-02D-1386-10	2984320	71489932	109425328	22	26566											
SPOCK1	6695	broad.mit.edu;hgsc.bcm.edu	37	5	136448175	136448175	+	Silent	SNP	C	C	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr5:136448175C>A	ENST00000394945.1	-	5	592	c.423G>T	c.(421-423)gtG>gtT	p.V141V	SPOCK1_ENST00000282223.7_Silent_p.V141V	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	141	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGACTGTGCCACGGGACAGG	0.473																																																0													99	96	97					5																	136448175		2203	4300	6503	SO:0001819	synonymous_variant	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.423G>T	5.37:g.136448175C>A			B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	CCDS4191.1																																																																																				0.473	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		A	136448175	C	A	136448175	2	1	492	1	0	0	0	0	0	0	0	1	15084	581	21	4		4	SPOCK1	5	136448175	Silent	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	64958243	136448175	44467085	23	26567											
SLC17A2	10246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	25913557	25913557	+	3'UTR	SNP	A	A	C			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr6:25913557A>C	ENST00000265425.3	-	0	1480				SLC17A2_ENST00000377850.3_Silent_p.L475L|SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.L426*			O00624	NPT3_HUMAN	solute carrier family 17, member 2						phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGAGGCGGGTAAGGGTCCTCT	0.423																																																0													127	120	122					6																	25913557		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10246			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.*140T>G	6.37:g.25913557A>C			A6NK81|A6NLD6|Q5TB84|Q76P85	Nonsense_Mutation	SNP	ENST00000265425.3	37		.	.	.	.	.	.	.	.	.	.	A	16.04	3.010248	0.54361	.	.	ENSG00000112337	ENST00000360488	.	.	.	4.65	-0.201	0.13212	.	0.367561	0.23716	N	0.045275	.	.	.	.	.	.	0.19945	N	0.999942	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5085	0.11899	0.3542:0.1549:0.4909:0.0	.	.	.	.	X	426	.	ENSP00000353677:L426X	L	-	2	0	SLC17A2	26021536	0.696000	0.27757	0.093000	0.20910	0.008000	0.06430	-0.220000	0.09215	-0.051000	0.13334	-0.154000	0.13518	TTA		0.423	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			C	25913557	A	C	25913557	1	2	492	0	1	0	0	0	0	0	0	0	14423	372	13	5		5	SLC17A2	6	25913557	3'UTR	SNP	A	TCGA-CJ-4639-01A-02D-1386-10		25913557	145201510	24	26568											
MUC17	140453	broad.mit.edu;hgsc.bcm.edu	37	7	100696341	100696341	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr7:100696341G>A	ENST00000306151.4	+	10	13242	c.13178G>A	c.(13177-13179)gGc>gAc	p.G4393D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4393					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGGTGTACGGCCTCGTGGGG	0.597																																																0													91	79	83					7																	100696341		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13178G>A	7.37:g.100696341G>A	ENSP00000302716:p.Gly4393Asp		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315805	0.23908	.	.	ENSG00000169876	ENST00000306151	T	0.46451	0.87	5.52	4.62	0.57501	.	.	.	.	.	T	0.65354	0.2683	M	0.79805	2.47	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.58578	-0.7612	9	0.66056	D	0.02	.	12.209	0.54369	0.0:0.1718:0.8282:0.0	.	4393	Q685J3	MUC17_HUMAN	D	4393	ENSP00000302716:G4393D	ENSP00000302716:G4393D	G	+	2	0	MUC17	100483061	0.913000	0.31002	0.027000	0.17364	0.128000	0.20619	4.067000	0.57527	1.289000	0.44618	0.650000	0.86243	GGC		0.597	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		A	100696341	G	A	100696341	3	1	492	1	0	0	0	0	1	0	0	0	9976	1203	42	2	13216	2	MUC17	7	100696341	Missense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10		100696341	58442322	25	26569											
MFHAS1	9258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	8748320	8748320	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr8:8748320T>C	ENST00000276282.6	-	1	2835	c.2249A>G	c.(2248-2250)cAt>cGt	p.H750R		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	750										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GAGCAGCTTATGCAGCAGCAA	0.632																																					Melanoma(103;1201 2045 17515 28966)											0													61	58	59					8																	8748320		2203	4300	6503	SO:0001583	missense	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2249A>G	8.37:g.8748320T>C	ENSP00000276282:p.His750Arg		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	T	2.175	-0.388862	0.04932	.	.	ENSG00000147324	ENST00000276282	T	0.32515	1.45	4.76	3.6	0.41247	.	0.258615	0.32608	N	0.005879	T	0.08714	0.0216	N	0.01352	-0.895	0.28621	N	0.908181	B	0.02656	0.0	B	0.01281	0.0	T	0.24261	-1.0165	10	0.14252	T	0.57	.	5.8391	0.18623	0.0:0.0957:0.1713:0.733	.	750	Q9Y4C4	MFHA1_HUMAN	R	750	ENSP00000276282:H750R	ENSP00000276282:H750R	H	-	2	0	MFHAS1	8785730	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	3.699000	0.54778	2.008000	0.58898	0.533000	0.62120	CAT		0.632	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		C	8748320	T	C	8748320	3	2	492	1	0	0	0	0	1	0	0	0	9523	1464	51	3	921	3	MFHAS1	8	8748320	Missense_Mutation	SNP	T	TCGA-CJ-4639-01A-02D-1386-10		8748320	137615702	26	26570											
RBM12B	389677	broad.mit.edu;hgsc.bcm.edu	37	8	94746348	94746348	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr8:94746348C>A	ENST00000399300.2	-	3	2504	c.2291G>T	c.(2290-2292)aGg>aTg	p.R764M	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R644M	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	764							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGGTGGCCGCCTGAAGTGCTC	0.682																																																0													28	34	32					8																	94746348		1773	4020	5793	SO:0001583	missense	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2291G>T	8.37:g.94746348C>A	ENSP00000382239:p.Arg764Met		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333774	0.60853	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.09163	3.02;3.01	4.35	3.48	0.39840	.	.	.	.	.	T	0.15219	0.0367	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	P	0.59357	0.856	T	0.09185	-1.0686	9	0.87932	D	0	3.41	6.7439	0.23451	0.0:0.7945:0.0:0.2055	.	764	Q8IXT5	RB12B_HUMAN	M	764;644	ENSP00000382239:R764M;ENSP00000427729:R644M	ENSP00000382239:R764M	R	-	2	0	RBM12B	94815524	0.001000	0.12720	0.043000	0.18650	0.128000	0.20619	0.453000	0.21811	1.422000	0.47177	0.563000	0.77884	AGG		0.682	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		A	94746348	C	A	94746348	3	1	492	1	0	0	0	0	1	0	0	0	13120	681	24	4	718	4	RBM12B	8	94746348	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	85998028	94746348	51617674	27	26571											
PFKFB3	5209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	6257233	6257233	+	Silent	SNP	C	C	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr10:6257233C>T	ENST00000379775.4	+	3	582	c.252C>T	c.(250-252)tcC>tcT	p.S84S	PFKFB3_ENST00000317350.4_Silent_p.S84S|PFKFB3_ENST00000540253.1_Silent_p.S98S|PFKFB3_ENST00000379789.4_Silent_p.S64S|PFKFB3_ENST00000536985.1_Silent_p.S64S|PFKFB3_ENST00000379785.1_Silent_p.S84S|PFKFB3_ENST00000379782.3_Silent_p.S84S|PFKFB3_ENST00000360521.2_Silent_p.S84S	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	84	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						AGTACAGCTCCTACAACTTCT	0.607																																																0													69	52	58					10																	6257233		2203	4300	6503	SO:0001819	synonymous_variant	5209				CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.252C>T	10.37:g.6257233C>T			B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	CCDS7078.1																																																																																				0.607	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			T	6257233	C	T	6257233	2	4	492	1	0	0	0	0	0	0	0	1	11764	668	24	2		2	PFKFB3	10	6257233	Silent	SNP	C	TCGA-CJ-4639-01A-02D-1386-10		6257233	129277514	28	26572											
STAM	8027	hgsc.bcm.edu;ucsc.edu	37	10	17737083	17737085	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	TCA	TCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr10:17737083_17737085delTCA	ENST00000377524.3	+	7	786_788	c.571_573delTCA	c.(571-573)tcadel	p.S191del	RP11-390B4.3_ENST00000445235.1_RNA|STAM_ENST00000540523.1_In_Frame_Del_p.S80del	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	191					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AAGGCAGCAGTCAACCACCCTTT	0.399																																																0																																										SO:0001651	inframe_deletion	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.571_573delTCA	10.37:g.17737083_17737085delTCA	ENSP00000366746:p.Ser191del		B0YJ99|D3DRU5|Q8N6D9	In_Frame_Del	DEL	ENST00000377524.3	37	CCDS7122.1																																																																																				0.399	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		-	17737085	TCA	-	17737083	7	5	492	1	0	1	0	1	0	0	0	0	15253	1667	58	0	597	0	STAM	10	17737083	In_Frame_Del	DEL	TCA	TCGA-CJ-4639-01A-02D-1386-10	11479850	17737083	117797664	29	26573											
SEMA4G	57715	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102740600	102740600	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr10:102740600C>T	ENST00000370250.4	+	12	1862	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	SEMA4G_ENST00000517724.1_Missense_Mutation_p.P497S|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Missense_Mutation_p.P497S|MRPL43_ENST00000370241.3_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	497	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGTGGGGGCTCCTAGCGGAGT	0.617																																																0													78	84	82					10																	102740600		2203	4300	6503	SO:0001583	missense	57715			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1489C>T	10.37:g.102740600C>T	ENSP00000359270:p.Pro497Ser		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		.	.	.	.	.	.	.	.	.	.	C	0.679	-0.799011	0.02841	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.03	-0.332	0.12675	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.573010	0.19279	N	0.118220	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B;B;B	0.14805	0.001;0.011;0.0	B;B;B	0.17098	0.003;0.017;0.003	T	0.35176	-0.9799	10	0.06757	T	0.87	.	6.7505	0.23485	0.0:0.3685:0.3996:0.2318	.	497;497;497	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	S	497	ENSP00000428896:P497S;ENSP00000359270:P497S;ENSP00000430175:P497S;ENSP00000210633:P497S	ENSP00000210633:P497S	P	+	1	0	SEMA4G	102730590	0.000000	0.05858	0.710000	0.30468	0.969000	0.65631	-0.432000	0.06956	-0.371000	0.08004	0.305000	0.20034	CCT		0.617	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			T	102740600	C	T	102740600	3	4	492	1	0	0	0	0	1	0	0	0	14042	855	30	2	1535	2	SEMA4G	10	102740600	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	85003517	102740600	32794147	30	26574											
ARFIP2	23647	broad.mit.edu;hgsc.bcm.edu	37	11	6499971	6499971	+	Silent	SNP	A	A	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr11:6499971A>T	ENST00000254584.2	-	5	617	c.534T>A	c.(532-534)ctT>ctA	p.L178L	TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000396777.3_Silent_p.L178L|ARFIP2_ENST00000525235.1_Silent_p.L178L|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000423813.2_Silent_p.L140L|ARFIP2_ENST00000445086.2_Silent_p.L93L|TIMM10B_ENST00000530751.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	178	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGGCACCTGAAGCTCTGGGG	0.637																																					Melanoma(119;796 1674 9049 20480 24794)											0													30	28	28					11																	6499971		2201	4296	6497	SO:0001819	synonymous_variant	23647			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.534T>A	11.37:g.6499971A>T			B4DX86|B4E306|D3DQT5	Silent	SNP	ENST00000254584.2	37	CCDS7765.1																																																																																				0.637	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		T	6499971	A	T	6499971	2	4	492	1	0	0	0	0	0	0	0	1	855	233	9	5		5	ARFIP2	11	6499971	Silent	SNP	A	TCGA-CJ-4639-01A-02D-1386-10		6499971	128506545	31	26575											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108106450	108106450	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr11:108106450A>T	ENST00000452508.2	+	6	574	c.385A>T	c.(385-387)Aaa>Taa	p.K129*	ATM_ENST00000278616.4_Nonsense_Mutation_p.K129*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	129					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGATACAGTGAAAGATTCATC	0.308			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													148	150	149					11																	108106450		2201	4298	6499	SO:0001587	stop_gained	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.385A>T	11.37:g.108106450A>T	ENSP00000388058:p.Lys129*		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	38	7.047286	0.98025	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	5.62	5.62	0.85841	.	0.108208	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1251	0.81386	1.0:0.0:0.0:0.0	.	.	.	.	X	129	.	ENSP00000278616:K129X	K	+	1	0	ATM	107611660	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.171000	0.58236	2.267000	0.75376	0.477000	0.44152	AAA		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108106450	A	T	108106450	4	4	492	1	0	0	0	0	0	1	0	0	1109	247	9	5	399	5	ATM	11	108106450	Nonsense_Mutation	SNP	A	TCGA-CJ-4639-01A-02D-1386-10	101606479	108106450	26900066	32	26576											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108216609	108216609	+	Missense_Mutation	SNP	C	C	G	rs141534716		TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr11:108216609C>G	ENST00000452508.2	+	59	8747	c.8558C>G	c.(8557-8559)aCg>aGg	p.T2853R	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2853R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2853	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.T2853M(2)|p.Y2852fs*4(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTGGCTTATACGCGCAGTGTA	0.368			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	3	Substitution - Missense(2)|Deletion - Frameshift(1)	endometrium(2)|prostate(1)											141	144	143					11																	108216609		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8558C>G	11.37:g.108216609C>G	ENSP00000388058:p.Thr2853Arg		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090444	0.94149	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82255	-1.59;-1.59	5.54	5.54	0.83059	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93122	0.7810	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94071	0.7335	10	0.87932	D	0	.	19.4688	0.94954	0.0:1.0:0.0:0.0	.	2853	Q13315	ATM_HUMAN	R	2853	ENSP00000278616:T2853R;ENSP00000388058:T2853R	ENSP00000278616:T2853R	T	+	2	0	ATM	107721819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.802000	0.85969	2.594000	0.87642	0.650000	0.86243	ACG		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		G	108216609	C	G	108216609	3	3	492	1	0	0	0	0	1	0	0	0	1109	536	19	4	8784	4	ATM	11	108216609	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	110159	108216609	26789907	33	26577											
TMPRSS13	84000	broad.mit.edu;ucsc.edu	37	11	117774795	117774795	+	Missense_Mutation	SNP	C	C	G	rs200481694	byFrequency	TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr11:117774795C>G	ENST00000430170.2	-	11	1490	c.1403G>C	c.(1402-1404)cGg>cCg	p.R468P	TMPRSS13_ENST00000528626.1_Missense_Mutation_p.R433P|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.R468P|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.R468P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	468	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CTGCACCTCCCGGAGGAAGGG	0.527																																																0													63	71	68					11																	117774795		2029	4173	6202	SO:0001583	missense	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.1403G>C	11.37:g.117774795C>G	ENSP00000387702:p.Arg468Pro		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020919	0.75275	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	4.98	4.98	0.66077	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000035	T	0.76688	0.4022	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.968;0.999;0.992	T	0.77395	-0.2604	10	0.51188	T	0.08	.	16.4305	0.83840	0.0:1.0:0.0:0.0	.	463;463;468	E9PHM4;Q9BYE2;E9PRA0	.;TMPSD_HUMAN;.	P	433;463;468;468;468	ENSP00000435813:R433P;ENSP00000434279:R468P;ENSP00000387702:R468P;ENSP00000394114:R468P	ENSP00000337113:R463P	R	-	2	0	TMPRSS13	117280005	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.569000	0.45973	2.489000	0.83994	0.551000	0.68910	CGG		0.527	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		G	117774795	C	G	117774795	3	3	492	1	0	0	0	0	1	0	0	0	16250	652	23	4	312	4	TMPRSS13	11	117774795	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	9558186	117774795	17231721	34	26578											
VDR	7421	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48272814	48272814	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr12:48272814C>G	ENST00000395324.2	-	3	351	c.83G>C	c.(82-84)gGa>gCa	p.G28A	VDR_ENST00000549336.1_Missense_Mutation_p.G28A|VDR_ENST00000535672.1_5'UTR|VDR_ENST00000229022.3_Missense_Mutation_p.G28A|VDR_ENST00000550325.1_Missense_Mutation_p.G78A			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	28					bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCTCGGTCTCCACACACCCC	0.592																																																0													102	86	91					12																	48272814		2203	4300	6503	SO:0001583	missense	7421			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.83G>C	12.37:g.48272814C>G	ENSP00000378734:p.Gly28Ala		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944110	0.92593	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000546653;ENST00000550314;ENST00000548664	D;D;D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18	5.58	5.58	0.84498	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.995	D	0.99521	1.0958	10	0.87932	D	0	.	18.1475	0.89662	0.0:1.0:0.0:0.0	.	28;78	P11473;G3V1V9	VDR_HUMAN;.	A	28;28;28;78;28;28;28	ENSP00000378734:G28A;ENSP00000229022:G28A;ENSP00000449573:G28A;ENSP00000447173:G78A;ENSP00000448659:G28A;ENSP00000449561:G28A;ENSP00000450105:G28A	ENSP00000229022:G28A	G	-	2	0	VDR	46559081	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.590000	0.82653	2.630000	0.89119	0.655000	0.94253	GGA		0.592	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			G	48272814	C	G	48272814	3	3	492	1	0	0	0	0	1	0	0	0	17154	855	30	4	1232	4	VDR	12	48272814	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10		48272814	85579081	35	26579											
MMP17	4326	broad.mit.edu;hgsc.bcm.edu	37	12	132329961	132329961	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr12:132329961C>T	ENST00000360564.1	+	8	1273	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	MMP17_ENST00000535004.1_5'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.R307C	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	391					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CGTGTACGAGCGCACCAGCGA	0.692																																																0													28	34	32					12																	132329961		2203	4299	6502	SO:0001583	missense	4326			X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1171C>T	12.37:g.132329961C>T	ENSP00000353767:p.Arg391Cys		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233291	0.79688	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.02631	4.22;4.22;4.22;4.22	4.74	2.67	0.31697	Hemopexin/matrixin (2);	0.056973	0.64402	D	0.000004	T	0.16085	0.0387	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00267	-1.1863	10	0.87932	D	0	.	7.3723	0.26808	0.2937:0.6077:0.0:0.0986	.	391	Q9ULZ9	MMP17_HUMAN	C	391;307;232;21	ENSP00000353767:R391C;ENSP00000441106:R307C;ENSP00000442104:R232C;ENSP00000439542:R21C	ENSP00000353767:R391C	R	+	1	0	MMP17	130895914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.334000	0.59291	0.992000	0.38840	0.591000	0.81541	CGC		0.692	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		T	132329961	C	T	132329961	3	4	492	1	0	0	0	0	1	0	0	0	9658	768	27	1	1201	1	MMP17	12	132329961	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	84057147	132329961	1521934	36	26580											
ZFP106	64397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42744055	42744055	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr15:42744055T>A	ENST00000263805.4	-	2	672	c.346A>T	c.(346-348)Agt>Tgt	p.S116C	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	116					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGACTGTAACTCTCTCTGTCT	0.448																																																0													201	177	186					15																	42744055		2203	4299	6502	SO:0001583	missense	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.346A>T	15.37:g.42744055T>A	ENSP00000263805:p.Ser116Cys		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413006	0.62511	.	.	ENSG00000103994	ENST00000263805	T	0.18016	2.24	5.63	3.37	0.38596	.	0.305004	0.30302	N	0.009935	T	0.12305	0.0299	L	0.40543	1.245	0.80722	D	1	P	0.48162	0.906	B	0.40702	0.338	T	0.01702	-1.1292	10	0.59425	D	0.04	-7.0155	5.0467	0.14487	0.0:0.3166:0.0:0.6834	.	116	Q9H2Y7	ZF106_HUMAN	C	116	ENSP00000263805:S116C	ENSP00000263805:S116C	S	-	1	0	ZFP106	40531347	0.118000	0.22208	1.000000	0.80357	0.991000	0.79684	0.662000	0.25038	2.146000	0.66826	0.515000	0.50301	AGT		0.448	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		A	42744055	T	A	42744055	3	1	492	1	0	0	0	0	1	0	0	0	17642	1551	54	5	5377	5	ZFP106	15	42744055	Missense_Mutation	SNP	T	TCGA-CJ-4639-01A-02D-1386-10		42744055	59787337	37	26581											
ADCY9	115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4033433	4033433	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr16:4033433C>A	ENST00000294016.3	-	7	2857	c.2319G>T	c.(2317-2319)aaG>aaT	p.K773N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	773					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGGGGAGTTCTTTATGACCT	0.577																																																0													74	62	66					16																	4033433		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2319G>T	16.37:g.4033433C>A	ENSP00000294016:p.Lys773Asn		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368878	0.24771	.	.	ENSG00000162104	ENST00000294016	D	0.83591	-1.74	5.94	3.67	0.42095	.	0.488579	0.23433	N	0.048231	T	0.67505	0.2900	N	0.11427	0.14	0.22050	N	0.999399	B	0.06786	0.001	B	0.06405	0.002	T	0.54695	-0.8255	10	0.27082	T	0.32	.	13.5327	0.61631	0.0:0.8534:0.0:0.1466	.	773	O60503	ADCY9_HUMAN	N	773	ENSP00000294016:K773N	ENSP00000294016:K773N	K	-	3	2	ADCY9	3973434	0.995000	0.38212	0.179000	0.23059	0.125000	0.20455	1.886000	0.39688	1.520000	0.48965	0.561000	0.74099	AAG		0.577	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			A	4033433	C	A	4033433	3	1	492	1	0	0	0	0	1	0	0	0	301	912	32	4	1762	4	ADCY9	16	4033433	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10		4033433	86321320	38	26582											
STX4	6810	hgsc.bcm.edu;ucsc.edu	37	16	31049919	31049919	+	Missense_Mutation	SNP	G	G	A	rs373829816		TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr16:31049919G>A	ENST00000313843.3	+	8	968	c.653G>A	c.(652-654)cGt>cAt	p.R218H	STX4_ENST00000394998.1_Missense_Mutation_p.R216H|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	218	Interaction with CENPF. {ECO:0000250}.|t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CGCAGTATTCGTGAGCTGCAC	0.582																																																0								G	HIS/ARG	0,4394		0,0,2197	83	72	76		653	5	1	16		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	STX4	NM_004604.3	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	218/298	31049919	1,12993	2197	4300	6497	SO:0001583	missense	6810			AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"syntaxin 4A (placental)"	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.653G>A	16.37:g.31049919G>A	ENSP00000317714:p.Arg218His		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405027	0.83230	0.0	1.16E-4	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.23348	1.91;1.91	5.93	4.97	0.65823	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.177714	0.46758	D	0.000271	T	0.22399	0.0540	L	0.29908	0.895	0.30871	N	0.732489	P;D	0.58620	0.889;0.983	B;P	0.45377	0.383;0.478	T	0.11348	-1.0591	10	0.87932	D	0	.	11.62	0.51113	0.1382:0.0:0.8618:0.0	.	218;216	Q12846;A8MXY0	STX4_HUMAN;.	H	216;218	ENSP00000378447:R216H;ENSP00000317714:R218H	ENSP00000317714:R218H	R	+	2	0	STX4	30957420	0.996000	0.38824	0.999000	0.59377	0.685000	0.39939	2.613000	0.46351	2.833000	0.97629	0.650000	0.86243	CGT		0.582	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		A	31049919	G	A	31049919	3	1	492	1	0	0	0	0	1	0	0	0	15352	1145	40	1	683	1	STX4	16	31049919	Missense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10	27016486	31049919	59304834	39	26583											
RBL2	5934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53487478	53487478	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr16:53487478A>C	ENST00000262133.6	+	6	1018	c.881A>C	c.(880-882)aAg>aCg	p.K294T	RBL2_ENST00000544545.1_Missense_Mutation_p.K78T|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	294					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGGGGATAAAGGAACATTTC	0.353																																																0													96	99	98					16																	53487478		2198	4300	6498	SO:0001583	missense	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.881A>C	16.37:g.53487478A>C	ENSP00000262133:p.Lys294Thr		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124007	0.56613	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000544545	D;D;D	0.91631	-2.88;-2.42;-2.18	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.96172	0.8752	M	0.85777	2.775	0.50467	D	0.999878	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.922;0.996;0.994	D	0.96843	0.9619	10	0.87932	D	0	-16.7393	14.5267	0.67894	1.0:0.0:0.0:0.0	.	78;294;294	B7Z913;Q8NE70;Q08999	.;.;RBL2_HUMAN	T	294;220;78	ENSP00000262133:K294T;ENSP00000443744:K220T;ENSP00000444685:K78T	ENSP00000262133:K294T	K	+	2	0	RBL2	52044979	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.925000	0.75829	1.815000	0.52974	0.402000	0.26972	AAG		0.353	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		C	53487478	A	C	53487478	3	2	492	1	0	0	0	0	1	0	0	0	13116	72	3	5	903	5	RBL2	16	53487478	Missense_Mutation	SNP	A	TCGA-CJ-4639-01A-02D-1386-10	22437559	53487478	36867275	40	26584											
GOT2	2806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58749998	58749998	+	Silent	SNP	A	A	C			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr16:58749998A>C	ENST00000245206.5	-	8	1067	c.939T>G	c.(937-939)cgT>cgG	p.R313R	GOT2_ENST00000434819.2_Silent_p.R270R|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	313					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	AATACATGGGACGGATCAAGA	0.488																																																0													149	133	138					16																	58749998		2198	4300	6498	SO:0001819	synonymous_variant	2806				CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.939T>G	16.37:g.58749998A>C			B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Silent	SNP	ENST00000245206.5	37	CCDS10801.1																																																																																				0.488	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			C	58749998	A	C	58749998	2	2	492	1	0	0	0	0	0	0	0	1	6583	262	10	5		5	GOT2	16	58749998	Silent	SNP	A	TCGA-CJ-4639-01A-02D-1386-10	5262520	58749998	31604755	41	26585											
MFSD6L	162387	broad.mit.edu;hgsc.bcm.edu	37	17	8702333	8702333	+	Missense_Mutation	SNP	G	G	A	rs371017606		TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr17:8702333G>A	ENST00000329805.4	-	1	334	c.106C>T	c.(106-108)Ctt>Ttt	p.L36F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	36						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CTCAGGTAAAGGGTCAGGAAC	0.667																																																0													31	36	34					17																	8702333		2202	4298	6500	SO:0001583	missense	162387			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.106C>T	17.37:g.8702333G>A	ENSP00000330051:p.Leu36Phe		Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324537	0.81580	.	.	ENSG00000185156	ENST00000329805	T	0.78707	-1.2	4.46	4.46	0.54185	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000005	D	0.85847	0.5792	M	0.76002	2.32	0.45502	D	0.998469	D	0.89917	1.0	D	0.97110	1.0	D	0.86390	0.1735	10	0.59425	D	0.04	-8.5544	10.3357	0.43847	0.0963:0.0:0.9037:0.0	.	36	Q8IWD5	MFS6L_HUMAN	F	36	ENSP00000330051:L36F	ENSP00000330051:L36F	L	-	1	0	MFSD6L	8643058	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.497000	0.53295	2.298000	0.77334	0.650000	0.86243	CTT		0.667	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		A	8702333	G	A	8702333	3	1	492	1	0	0	0	0	1	0	0	0	9538	1000	35	2	1658	2	MFSD6L	17	8702333	Missense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10		8702333	72492877	42	26586											
ATAD5	79915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29196281	29196281	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr17:29196281T>C	ENST00000321990.4	+	13	3707	c.3329T>C	c.(3328-3330)aTa>aCa	p.I1110T		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1110					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCGGGTGGCATAGACTTTAAA	0.393																																																0													111	107	108					17																	29196281		2203	4300	6503	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3329T>C	17.37:g.29196281T>C	ENSP00000313171:p.Ile1110Thr		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	6.378	0.437900	0.12104	.	.	ENSG00000176208	ENST00000321990	T	0.06218	3.33	5.62	0.879	0.19155	.	1.107710	0.06632	N	0.759414	T	0.04182	0.0116	N	0.20685	0.6	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.12837	0.008;0.003	T	0.48647	-0.9017	10	0.14252	T	0.57	.	5.0726	0.14615	0.0:0.2141:0.2668:0.5191	.	1110;1110	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	T	1110	ENSP00000313171:I1110T	ENSP00000313171:I1110T	I	+	2	0	ATAD5	26220407	0.002000	0.14202	0.007000	0.13788	0.715000	0.41141	-0.061000	0.11693	-0.127000	0.11661	0.482000	0.46254	ATA		0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		C	29196281	T	C	29196281	3	2	492	1	0	0	0	0	1	0	0	0	1076	1406	49	3	3379	3	ATAD5	17	29196281	Missense_Mutation	SNP	T	TCGA-CJ-4639-01A-02D-1386-10	20493948	29196281	51998929	43	26587											
KIAA1267	284058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	44248335	44248335	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr17:44248335C>G	ENST00000262419.6	-	2	1645	c.1175G>C	c.(1174-1176)aGg>aCg	p.R392T	KANSL1_ENST00000572904.1_Missense_Mutation_p.R392T|KANSL1_ENST00000432791.1_Missense_Mutation_p.R392T|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.R392T|KANSL1_ENST00000575318.1_Missense_Mutation_p.R392T|KANSL1_ENST00000576248.1_5'UTR	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	392					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TTCACTGCACCTCAAGTTGGC	0.453																																																0													109	138	128					17																	44248335		2203	4300	6503	SO:0001583	missense	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1175G>C	17.37:g.44248335C>G	ENSP00000262419:p.Arg392Thr		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	9.950	1.219801	0.22373	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.12774	2.65;2.65	5.21	2.82	0.32997	.	0.104689	0.64402	D	0.000005	T	0.09069	0.0224	N	0.17082	0.46	0.80722	D	1	B;B	0.18610	0.029;0.022	B;B	0.24974	0.032;0.057	T	0.16778	-1.0391	10	0.41790	T	0.15	-4.4036	10.582	0.45261	0.0:0.7739:0.139:0.0871	.	392;392	C9JHY2;Q7Z3B3	.;K1267_HUMAN	T	392	ENSP00000262419:R392T;ENSP00000387393:R392T	ENSP00000262419:R392T	R	-	2	0	KIAA1267	41604112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.548000	0.53670	1.173000	0.42796	0.561000	0.74099	AGG		0.453	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		G	44248335	C	G	44248335	3	3	492	1	0	0	0	0	1	0	0	0	8221	681	24	4	2198	4	KIAA1267	17	44248335	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	15052054	44248335	36946875	44	26588											
AKAP1	8165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	55184285	55184285	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr17:55184285G>A	ENST00000337714.3	+	2	1693	c.1460G>A	c.(1459-1461)tGt>tAt	p.C487Y	AKAP1_ENST00000539273.1_Missense_Mutation_p.C487Y|AKAP1_ENST00000571629.1_Missense_Mutation_p.C487Y|AKAP1_ENST00000572557.1_Missense_Mutation_p.C487Y|AKAP1_ENST00000314126.3_Missense_Mutation_p.C487Y	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	487					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GATGCCACCTGTGTCACCTGC	0.577																																																0													115	111	112					17																	55184285		2203	4300	6503	SO:0001583	missense	8165			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1460G>A	17.37:g.55184285G>A	ENSP00000337736:p.Cys487Tyr		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	9.477	1.097104	0.20552	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.26373	2.02;1.74;2.02	5.8	2.7	0.31948	.	0.230684	0.53938	N	0.000051	T	0.28928	0.0718	M	0.66939	2.045	0.09310	N	1	P	0.52170	0.951	P	0.47376	0.545	T	0.14420	-1.0473	10	0.49607	T	0.09	0.0051	5.3509	0.16036	0.2289:0.0:0.6247:0.1464	.	487	Q92667	AKAP1_HUMAN	Y	487;487;529;487	ENSP00000337736:C487Y;ENSP00000314075:C487Y;ENSP00000443139:C487Y	ENSP00000314075:C487Y	C	+	2	0	AKAP1	52539284	0.039000	0.19947	0.001000	0.08648	0.019000	0.09904	0.876000	0.28092	0.344000	0.23847	0.467000	0.42956	TGT		0.577	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			A	55184285	G	A	55184285	3	1	492	1	0	0	0	0	1	0	0	0	445	1377	48	2	1462	2	AKAP1	17	55184285	Missense_Mutation	SNP	G	TCGA-CJ-4639-01A-02D-1386-10	10935950	55184285	26010925	45	26589											
POLG2	11232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62492539	62492539	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr17:62492539T>A	ENST00000539111.2	-	1	615	c.548A>T	c.(547-549)gAg>gTg	p.E183V		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	183					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AAGAAGGTTCTCCCGTAGTTT	0.468																																					Colon(3;18 21 435 17652 48887)											0													112	119	117					17																	62492539		2203	4300	6503	SO:0001583	missense	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.548A>T	17.37:g.62492539T>A	ENSP00000442563:p.Glu183Val		O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.703463	0.48412	.	.	ENSG00000256525	ENST00000539111	T	0.78003	-1.14	5.15	2.74	0.32292	.	0.494434	0.22349	N	0.061233	T	0.68128	0.2967	L	0.46157	1.445	0.28150	N	0.929448	B;B	0.31680	0.335;0.335	B;B	0.25140	0.058;0.058	T	0.64698	-0.6346	10	0.87932	D	0	-8.9423	10.671	0.45757	0.0:0.0:0.3052:0.6948	.	183;183	E5KS15;Q9UHN1	.;DPOG2_HUMAN	V	183	ENSP00000442563:E183V	ENSP00000442563:E183V	E	-	2	0	POLG2	59923001	0.990000	0.36364	0.995000	0.50966	0.995000	0.86356	1.407000	0.34657	0.786000	0.33708	0.454000	0.30748	GAG		0.468	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		A	62492539	T	A	62492539	3	1	492	1	0	0	0	0	1	0	0	0	12203	1551	54	5	941	5	POLG2	17	62492539	Missense_Mutation	SNP	T	TCGA-CJ-4639-01A-02D-1386-10	7308254	62492539	18702671	46	26590											
ZACN	353174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74076506	74076506	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr17:74076506G>A	ENST00000334586.5	+	5	627		c.e5+1		ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel						ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGCAACACGGGTGCTGACAGG	0.662																																																0													59	54	56					17																	74076506		2203	4300	6503	SO:0001630	splice_region_variant	353174			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.544+1G>A	17.37:g.74076506G>A			Q2TB29|Q6ZWK3|Q86YW4	Splice_Site	SNP	ENST00000334586.5	37	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068300	0.55539	.	.	ENSG00000186919	ENST00000334586	.	.	.	4.69	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5366	0.45007	0.0935:0.0:0.9065:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZACN	71588101	0.993000	0.37304	0.978000	0.43139	0.791000	0.44710	1.211000	0.32382	1.175000	0.42826	0.655000	0.94253	.		0.662	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990	Intron	A	74076506	G	A	74076506	5	1	492	1	0	0	0	0	0	0	1	0	17515	1275	44	2	563	2	ZACN	17	74076506	Splice_Site	SNP	G	TCGA-CJ-4639-01A-02D-1386-10	11583967	74076506	7118704	47	26591											
NFATC1	4772	broad.mit.edu;hgsc.bcm.edu	37	18	77170523	77170523	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr18:77170523C>T	ENST00000427363.2	+	2	248	c.248C>T	c.(247-249)gCg>gTg	p.A83V	NFATC1_ENST00000592223.1_Missense_Mutation_p.A70V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.A83V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A83V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A83V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A70V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.A83V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A70V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A70V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	83					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	ATCCCGCCGGCGGATCACCCC	0.721																																					GBM(151;1210 2593 28719 45011)											0													44	48	47					18																	77170523		2203	4299	6502	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.248C>T	18.37:g.77170523C>T	ENSP00000389377:p.Ala83Val		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	C	12.50	1.957752	0.34565	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.45668	0.89;0.89;0.89	3.81	1.98	0.26296	.	1.978000	0.02885	N	0.133416	T	0.39332	0.1074	L	0.42245	1.32	0.39455	D	0.967477	B;B;B;B;B;B;B	0.17465	0.022;0.003;0.001;0.001;0.001;0.003;0.001	B;B;B;B;B;B;B	0.08055	0.002;0.001;0.0;0.001;0.001;0.003;0.0	T	0.15065	-1.0450	10	0.62326	D	0.03	-4.656	8.4418	0.32820	0.0:0.742:0.1696:0.0885	.	70;70;83;83;83;70;83	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	83;83;83;70;70;47	ENSP00000253506:A83V;ENSP00000442435:A83V;ENSP00000327850:A70V	ENSP00000253506:A83V	A	+	2	0	NFATC1	75271511	0.432000	0.25554	0.000000	0.03702	0.000000	0.00434	3.761000	0.55242	0.271000	0.22005	-0.254000	0.11334	GCG		0.721	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		T	77170523	C	T	77170523	3	4	492	1	0	0	0	0	1	0	0	0	10363	768	27	1	346	1	NFATC1	18	77170523	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10		77170523	906725	48	26592											
APLP1	333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36362632	36362632	+	Missense_Mutation	SNP	C	C	A	rs142658251		TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr19:36362632C>A	ENST00000221891.4	+	5	848	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	APLP1_ENST00000537454.2_Missense_Mutation_p.S180Y|APLP1_ENST00000586861.1_Missense_Mutation_p.S213Y|NPHS1_ENST00000591817.1_5'Flank	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	219					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGACCCATCTGGGACAGCA	0.632																																																0								C	TYR/SER,TYR/SER	0,4406		0,0,2203	66	61	63		656,656	4.1	1	19	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	APLP1	NM_001024807.1,NM_005166.3	144,144	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	219/652,219/651	36362632	2,13004	2203	4300	6503	SO:0001583	missense	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.656C>A	19.37:g.36362632C>A	ENSP00000221891:p.Ser219Tyr		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416558	0.62511	0.0	2.33E-4	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94280	-3.31;-3.39	4.11	4.11	0.48088	.	0.546169	0.15526	N	0.257759	D	0.89729	0.6799	N	0.19112	0.55	0.39947	D	0.974483	D;D;D;D	0.61080	0.978;0.989;0.989;0.981	P;P;P;P	0.52066	0.598;0.578;0.689;0.491	D	0.86068	0.1536	10	0.14656	T	0.56	-1.9649	12.1684	0.54144	0.0:1.0:0.0:0.0	.	213;180;219;219	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	Y	180;219	ENSP00000441501:S180Y;ENSP00000221891:S219Y	ENSP00000221891:S219Y	S	+	2	0	APLP1	41054472	0.450000	0.25697	0.994000	0.49952	0.921000	0.55340	4.839000	0.62810	2.006000	0.58801	0.462000	0.41574	TCT		0.632	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		A	36362632	C	A	36362632	3	1	492	1	0	0	0	0	1	0	0	0	778	913	32	4	674	4	APLP1	19	36362632	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10		36362632	22766351	49	26593											
GSK3A	2931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42736808	42736808	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr19:42736808C>A	ENST00000222330.3	-	9	1252	c.1125G>T	c.(1123-1125)gaG>gaT	p.E375D	GSK3A_ENST00000398249.4_Missense_Mutation_p.E293D	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|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)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GCGCGATGGCCTCTGGCGGCG	0.582																																																0													58	58	58					19																	42736808		2203	4300	6503	SO:0001583	missense	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1125G>T	19.37:g.42736808C>A	ENSP00000222330:p.Glu375Asp		O14959	Missense_Mutation	SNP	ENST00000222330.3	37	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029148	0.54790	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.68025	-0.3;-0.3	4.92	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.126749	0.51477	D	0.000100	T	0.43389	0.1245	N	0.10945	0.07	0.80722	D	1	B;B	0.15141	0.012;0.0	B;B	0.17433	0.018;0.004	T	0.39375	-0.9617	10	0.44086	T	0.13	-18.937	7.0896	0.25277	0.1728:0.7379:0.0:0.0893	.	375;293	P49840;A8MT37	GSK3A_HUMAN;.	D	375;293;320	ENSP00000222330:E375D;ENSP00000381301:E293D	ENSP00000222330:E375D	E	-	3	2	GSK3A	47428648	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.962000	0.29280	2.468000	0.83385	0.561000	0.74099	GAG		0.582	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			A	42736808	C	A	42736808	3	1	492	1	0	0	0	0	1	0	0	0	6825	680	24	4	338	4	GSK3A	19	42736808	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	6374176	42736808	16392175	50	26594											
KLC3	147700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45854226	45854226	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr19:45854226T>G	ENST00000391946.2	+	12	1496	c.1394T>G	c.(1393-1395)aTg>aGg	p.M465R	KLC3_ENST00000585434.1_Missense_Mutation_p.M464R|ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000470402.1_Missense_Mutation_p.M479R	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	465					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AAGAGAGCCATGTCACTCAAC	0.557																																																0													60	60	60					19																	45854226		2070	4210	6280	SO:0001583	missense	147700			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1394T>G	19.37:g.45854226T>G	ENSP00000375810:p.Met465Arg		A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	T	8.773	0.926365	0.18056	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.82081	-1.56;-1.57	3.69	3.69	0.42338	.	0.356820	0.24345	U	0.039332	T	0.65984	0.2744	N	0.08118	0	0.80722	D	1	B;B;B	0.13594	0.008;0.008;0.005	B;B;B	0.14023	0.01;0.01;0.005	T	0.64672	-0.6352	10	0.66056	D	0.02	-18.2624	8.9358	0.35700	0.0:0.0:0.0:1.0	.	464;479;465	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	R	465;479	ENSP00000375810:M465R;ENSP00000436019:M479R	ENSP00000375810:M465R	M	+	2	0	KLC3	50546066	0.966000	0.33281	0.916000	0.36221	0.555000	0.35460	2.323000	0.43823	1.689000	0.51079	0.379000	0.24179	ATG		0.557	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		G	45854226	T	G	45854226	3	3	492	1	0	0	0	0	1	0	0	0	8337	1464	51	5	1436	5	KLC3	19	45854226	Missense_Mutation	SNP	T	TCGA-CJ-4639-01A-02D-1386-10	3117418	45854226	13274757	51	26595											
NLRP4	147945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56369989	56369989	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr19:56369989C>A	ENST00000301295.6	+	3	1652	c.1230C>A	c.(1228-1230)gaC>gaA	p.D410E	NLRP4_ENST00000346986.5_Missense_Mutation_p.D410E|NLRP4_ENST00000587891.1_Missense_Mutation_p.D335E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	410	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTGGACAGACACATTTGAGT	0.577																																																0													95	95	95					19																	56369989		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1230C>A	19.37:g.56369989C>A	ENSP00000301295:p.Asp410Glu		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283662	0.40394	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83673	-1.75;-1.75	4.09	-2.33	0.06724	.	.	.	.	.	T	0.79155	0.4398	L	0.45137	1.4	0.09310	N	1	P;D;D	0.65815	0.544;0.995;0.981	B;P;P	0.61477	0.234;0.889;0.76	T	0.68025	-0.5518	9	0.02654	T	1	.	5.1717	0.15114	0.0:0.3044:0.4033:0.2923	.	410;335;410	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	E	410	ENSP00000301295:D410E;ENSP00000344787:D410E	ENSP00000301295:D410E	D	+	3	2	NLRP4	61061801	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.471000	0.06631	-0.080000	0.12685	-0.145000	0.13849	GAC		0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		A	56369989	C	A	56369989	3	1	492	1	0	0	0	0	1	0	0	0	10481	477	17	4	1236	4	NLRP4	19	56369989	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	10515763	56369989	2758994	52	26596											
TAF4	6874	hgsc.bcm.edu;ucsc.edu	37	20	60574076	60574077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr20:60574076_60574077insC	ENST00000252996.4	-	12	2874_2875	c.2875_2876insG	c.(2875-2877)gatfs	p.D959fs		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	959					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTCCTGCTCATCCTTCCTCTGC	0.545																																																0																																										SO:0001589	frameshift_variant	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2876dupG	20.37:g.60574078_60574078dupC	ENSP00000252996:p.Asp959fs		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Frame_Shift_Ins	INS	ENST00000252996.4	37	CCDS33500.1																																																																																				0.545	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		C	60574077	-	C	60574076	7	5	492	1	0	1	1	0	0	0	0	0	15531	1435	50	0	397	0	TAF4	20	60574076	Frame_Shift_Ins	INS	-	TCGA-CJ-4639-01A-02D-1386-10		60574076	2451444	53	26597											
SLC2A11	66035	hgsc.bcm.edu;ucsc.edu	37	22	24226035	24226036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chr22:24226035_24226036insC	ENST00000345044.6	+	9	1329_1330	c.1061_1062insC	c.(1060-1065)atcttcfs	p.F355fs	SLC2A11_ENST00000398356.2_Frame_Shift_Ins_p.F362fs|AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000316185.8_Frame_Shift_Ins_p.F358fs			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	355					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TGGGGGAGCATCTTCACTGTGG	0.653																																																0																																										SO:0001589	frameshift_variant	66035			AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"Solute carriers"	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.1062dupC	22.37:g.24226036_24226036dupC	ENSP00000342542:p.Phe355fs		E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Frame_Shift_Ins	INS	ENST00000345044.6	37	CCDS46673.1																																																																																				0.653	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		C	24226036	-	C	24226035	7	5	492	1	0	1	1	0	0	0	0	0	14546	1435	50	0	1175	0	SLC2A11	22	24226035	Frame_Shift_Ins	INS	-	TCGA-CJ-4639-01A-02D-1386-10		24226035	27078531	54	26598											
TBL1X	6907	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	9677737	9677737	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chrX:9677737C>A	ENST00000217964.7	+	15	2016	c.1376C>A	c.(1375-1377)aCc>aAc	p.T459N	TBL1X_ENST00000380961.1_Missense_Mutation_p.T408N|TBL1X_ENST00000424279.1_Missense_Mutation_p.T408N|TBL1X_ENST00000536365.1_Missense_Mutation_p.T408N|TBL1X_ENST00000407597.2_Missense_Mutation_p.T459N	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	459					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GAGATCTACACCATCAAGTGG	0.522											OREG0019658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													52	37	42					X																	9677737		2202	4300	6502	SO:0001583	missense	6907			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1376C>A	X.37:g.9677737C>A	ENSP00000217964:p.Thr459Asn	658	A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482903	0.84747	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	4.19	4.19	0.49359	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	L	0.28274	0.84	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.85130	0.997;0.951	T	0.71504	-0.4573	10	0.87932	D	0	.	16.6004	0.84815	0.0:1.0:0.0:0.0	.	422;459	Q59F53;O60907	.;TBL1X_HUMAN	N	459;408;408;408;459	ENSP00000385988:T459N;ENSP00000394097:T408N;ENSP00000445317:T408N;ENSP00000370348:T408N;ENSP00000217964:T459N	ENSP00000217964:T459N	T	+	2	0	TBL1X	9637737	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.253000	0.78320	2.028000	0.59812	0.600000	0.82982	ACC		0.522	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		A	9677737	C	A	9677737	3	1	492	1	0	0	0	0	1	0	0	0	15644	507	18	4	1422	4	TBL1X	23	9677737	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10		9677737	145592823	55	26599											
XK	7504	broad.mit.edu;hgsc.bcm.edu	37	X	37586901	37586901	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chrX:37586901C>A	ENST00000378616.3	+	3	724	c.521C>A	c.(520-522)aCc>aAc	p.T174N	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	174					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CTCCTCATGACCATATCCCTG	0.498																																																0													79	62	68					X																	37586901		2202	4300	6502	SO:0001583	missense	7504			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"Blood group antigens"	12811	protein-coding gene	gene with protein product	"Kx antigen", "McLeod syndrome"	314850	"Kell blood group precursor (McLeod phenotype)", "XK, Kell blood group complex subunit (McLeod syndrome)", "neuroacanthocytosis", "neurocanthocytosis"	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.521C>A	X.37:g.37586901C>A	ENSP00000367879:p.Thr174Asn		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	C	7.455	0.643490	0.14451	.	.	ENSG00000047597	ENST00000378616	T	0.65732	-0.17	5.34	2.29	0.28610	.	0.612404	0.17650	N	0.166732	T	0.45796	0.1360	L	0.29908	0.895	0.09310	N	1	B	0.26902	0.163	B	0.29942	0.109	T	0.35798	-0.9774	10	0.46703	T	0.11	-20.5575	4.5792	0.12250	0.0:0.3861:0.1586:0.4553	.	174	P51811	XK_HUMAN	N	174	ENSP00000367879:T174N	ENSP00000367879:T174N	T	+	2	0	XK	37471840	0.052000	0.20516	0.003000	0.11579	0.591000	0.36615	1.511000	0.35801	0.024000	0.15214	0.556000	0.70494	ACC		0.498	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		A	37586901	C	A	37586901	3	1	492	1	0	0	0	0	1	0	0	0	17436	507	18	4	531	4	XK	23	37586901	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	27909164	37586901	117683659	56	26600											
IL13RA1	3597	hgsc.bcm.edu;ucsc.edu	37	X	117900881	117900882	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chrX:117900881_117900882insAA	ENST00000371666.3	+	8	1018_1019	c.951_952insAA	c.(952-954)aagfs	p.K318fs	IL13RA1_ENST00000371637.3_5'Flank	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	318	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TCAAAACAAATAAGTTATGCTA	0.317																																																0																																										SO:0001589	frameshift_variant	3597			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"Interleukins and interleukin receptors", "CD molecules"	5974	protein-coding gene	gene with protein product	"IL13 receptor alpha-1 chain", "CD213a1 antigen"	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.952_953dupAA	X.37:g.117900882_117900883dupAA	ENSP00000360730:p.Lys318fs		O95646|Q5JSL4|Q99656|Q9UDY5	Frame_Shift_Ins	INS	ENST00000371666.3	37	CCDS14573.1																																																																																				0.317	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		AA	117900882	-	AA	117900881	7	5	492	1	0	1	1	0	0	0	0	0	7631	1403	49	0	981	0	IL13RA1	23	117900881	Frame_Shift_Ins	INS	-	TCGA-CJ-4639-01A-02D-1386-10	80313980	117900881	37369679	57	26601											
ACTRT1	139741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	127185839	127185839	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chrX:127185839C>A	ENST00000371124.3	-	1	543	c.347G>T	c.(346-348)aGg>aTg	p.R116M		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	116						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCGAATTTCCCTAGGATTCAA	0.488																																																0													227	218	221					X																	127185839		2203	4300	6503	SO:0001583	missense	139741			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.347G>T	X.37:g.127185839C>A	ENSP00000360165:p.Arg116Met		Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	7.511	0.654750	0.14580	.	.	ENSG00000123165	ENST00000371124	D	0.94793	-3.52	3.76	-0.16	0.13375	.	0.504809	0.17957	N	0.156303	D	0.94614	0.8264	M	0.69823	2.125	0.09310	N	1	D	0.55800	0.973	P	0.60415	0.874	D	0.87639	0.2521	10	0.87932	D	0	.	3.4396	0.07458	0.1825:0.3784:0.0:0.4391	.	116	Q8TDG2	ACTT1_HUMAN	M	116	ENSP00000360165:R116M	ENSP00000360165:R116M	R	-	2	0	ACTRT1	127013520	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.036000	0.12185	-0.169000	0.10834	-0.296000	0.09543	AGG		0.488	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		A	127185839	C	A	127185839	3	1	492	1	0	0	0	0	1	0	0	0	218	681	24	4	787	4	ACTRT1	23	127185839	Missense_Mutation	SNP	C	TCGA-CJ-4639-01A-02D-1386-10	9284958	127185839	28084721	58	26602											
AIFM1	9131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129290574	129290574	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4639-01A-02D-1386-10	TCGA-CJ-4639-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9df6d1b1-5a09-4082-8ec0-61b12b3c8801	bb11b4d9-1656-4dd8-9916-c2a717201dc2	g.chrX:129290574T>G	ENST00000287295.3	-	2	340	c.110A>C	c.(109-111)aAc>aCc	p.N37T	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Intron|AIFM1_ENST00000535724.1_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	37					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CTGGAACAAGTTGCCTAAGAA	0.358																																																0													162	144	150					X																	129290574		2203	4300	6503	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.110A>C	X.37:g.129290574T>G	ENSP00000287295:p.Asn37Thr		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	T	1.323	-0.599016	0.03744	.	.	ENSG00000156709	ENST00000287295	T	0.21191	2.02	5.49	2.9	0.33743	.	0.430097	0.29233	N	0.012746	T	0.16811	0.0404	L	0.47716	1.5	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.05131	-1.0904	10	0.45353	T	0.12	-8.5731	6.6034	0.22712	0.1398:0.0:0.4401:0.4202	.	37;37	Q1L6K6;O95831	.;AIFM1_HUMAN	T	37	ENSP00000287295:N37T	ENSP00000287295:N37T	N	-	2	0	AIFM1	129118255	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.093000	0.30939	0.702000	0.31825	0.437000	0.28790	AAC		0.358	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			G	129290574	T	G	129290574	3	3	492	1	0	0	0	0	1	0	0	0	426	1725	60	5	1938	5	AIFM1	23	129290574	Missense_Mutation	SNP	T	TCGA-CJ-4639-01A-02D-1386-10	2104735	129290574	25979986	59	26603											
TMEM222	84065	broad.mit.edu;hgsc.bcm.edu	37	1	27648817	27648817	+	Silent	SNP	C	C	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr1:27648817C>T	ENST00000374076.4	+	1	167	c.129C>T	c.(127-129)gtC>gtT	p.V43V	TMEM222_ENST00000608611.1_Silent_p.V10V|RNU6-48P_ENST00000384161.1_RNA	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	43						integral component of membrane (GO:0016021)		p.V43V(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CCGGCGGCGTCGCCATGGATG	0.677																																																1	Substitution - coding silent(1)	kidney(1)											36	32	33					1																	27648817		2202	4300	6502	SO:0001819	synonymous_variant	84065			AL136683	CCDS297.2	1p36.11	2008-07-07	2008-07-07	2008-07-07	ENSG00000186501	ENSG00000186501			25363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 160"	C1orf160		11230166	Standard	NM_032125		Approved	DKFZP564D0478	uc001bnr.4	Q9H0R3	OTTHUMG00000004410	ENST00000374076.4:c.129C>T	1.37:g.27648817C>T			D3DPL6|Q53HD8|Q5FVE9	Silent	SNP	ENST00000374076.4	37	CCDS297.2	.	.	.	.	.	.	.	.	.	.	C	2.607	-0.291657	0.05568	.	.	ENSG00000186501	ENST00000466759;ENST00000464813	.	.	.	4.41	3.48	0.39840	.	.	.	.	.	T	0.39462	0.1079	.	.	.	0.20873	N	0.999834	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	.	10.8196	0.46597	0.0:0.9086:0.0:0.0914	.	.	.	.	C	25;16	.	.	R	+	1	0	TMEM222	27521404	0.223000	0.23663	0.268000	0.24571	0.131000	0.20780	0.258000	0.18387	1.050000	0.40346	0.561000	0.74099	CGC		0.677	TMEM222-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012809.2	NM_032125		T	27648817	C	T	27648817	2	4	493	1	0	0	0	0	0	0	0	1	16150	871	31	1		1	TMEM222	1	27648817	Silent	SNP	C	TCGA-CJ-4640-01A-02D-1386-10		27648817	221601804	1	26604											
LASS2	29956	broad.mit.edu;hgsc.bcm.edu	37	1	150939613	150939613	+	Silent	SNP	G	G	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr1:150939613G>T	ENST00000271688.6	-	8	1064	c.678C>A	c.(676-678)gcC>gcA	p.A226A	CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Silent_p.A226A|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_Silent_p.A217A	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	226	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.A226A(1)									GGATGTAATTGGCAAACCAGG	0.502																																																1	Substitution - coding silent(1)	kidney(1)											101	97	98					1																	150939613		2203	4300	6503	SO:0001819	synonymous_variant	0			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.678C>A	1.37:g.150939613G>T			D3DV06|Q5SZE5|Q9HD96|Q9NW79	Silent	SNP	ENST00000271688.6	37	CCDS973.1																																																																																				0.502	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		T	150939613	G	T	150939613	2	4	493	1	0	0	0	0	0	0	0	1	8641	1335	47	4		4	LASS2	1	150939613	Silent	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	123290796	150939613	98311008	2	26605											
GPR52	9293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	174418158	174418158	+	Silent	SNP	C	C	A			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr1:174418158C>A	ENST00000367685.2	+	1	947	c.909C>A	c.(907-909)acC>acA	p.T303T	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	303					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T303T(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TCTTAACAACCTGGCTTGCAA	0.423																																					Ovarian(92;924 1390 1930 16467 40583)											1	Substitution - coding silent(1)	kidney(1)											93	97	96					1																	174418158		2203	4300	6503	SO:0001819	synonymous_variant	9293			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.909C>A	1.37:g.174418158C>A			O75654|Q4VBL6|Q6ISM0	Silent	SNP	ENST00000367685.2	37	CCDS30941.1																																																																																				0.423	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		A	174418158	C	A	174418158	2	1	493	1	0	0	0	0	0	0	0	1	6700	668	24	4		4	GPR52	1	174418158	Silent	SNP	C	TCGA-CJ-4640-01A-02D-1386-10	23478545	174418158	74832463	3	26606											
B3GALNT2	148789	broad.mit.edu;ucsc.edu	37	1	235618936	235618936	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr1:235618936G>T	ENST00000366600.3	-	9	1314	c.1086C>A	c.(1084-1086)gaC>gaA	p.D362E		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	362					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)	p.D362E(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CAGCTTCGAGGTCTATGTAAC	0.413																																																1	Substitution - Missense(1)	kidney(1)											112	96	101					1																	235618936		2203	4300	6503	SO:0001583	missense	148789			BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"Beta 3-glycosyltransferases"	28596	protein-coding gene	gene with protein product		610194	"UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1086C>A	1.37:g.235618936G>T	ENSP00000355559:p.Asp362Glu		Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	ENST00000366600.3	37	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792143	0.70452	.	.	ENSG00000162885	ENST00000366600	T	0.40756	1.02	5.64	3.42	0.39159	.	0.096849	0.64402	D	0.000001	T	0.58466	0.2124	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.60586	-0.7234	10	0.59425	D	0.04	-29.9269	9.3885	0.38359	0.2572:0.0:0.7428:0.0	.	362	Q8NCR0	B3GL2_HUMAN	E	362	ENSP00000355559:D362E	ENSP00000355559:D362E	D	-	3	2	B3GALNT2	233685559	1.000000	0.71417	0.951000	0.38953	0.923000	0.55619	2.596000	0.46205	1.379000	0.46325	0.655000	0.94253	GAC		0.413	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		T	235618936	G	T	235618936	3	4	493	1	0	0	0	0	1	0	0	0	1246	1252	44	4	432	4	B3GALNT2	1	235618936	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	61200778	235618936	13631685	4	26607											
LYST	1130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235918888	235918889	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr1:235918888_235918889insT	ENST00000389794.3	-	25	7292_7293	c.7118_7119insA	c.(7117-7119)aatfs	p.N2373fs	LYST_ENST00000389793.2_Frame_Shift_Ins_p.N2373fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2373					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAATCCACGATTCTTCAGAAA	0.327																																																0																																										SO:0001589	frameshift_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7119dupA	1.37:g.235918890_235918890dupT	ENSP00000374444:p.Asn2373fs		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Ins	INS	ENST00000389794.3	37	CCDS31062.1																																																																																				0.327	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235918889	-	T	235918888	7	5	493	1	0	1	1	0	0	0	0	0	9130	330	12	0	4402	0	LYST	1	235918888	Frame_Shift_Ins	INS	-	TCGA-CJ-4640-01A-02D-1386-10	299952	235918888	13331733	5	26608											
CCDC75	253635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	37321281	37321281	+	Silent	SNP	A	A	G			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr2:37321281A>G	ENST00000608836.1	+	7	730	c.585A>G	c.(583-585)gaA>gaG	p.E195E	GPATCH11_ENST00000409774.1_Silent_p.E221E|GPATCH11_ENST00000281932.5_Silent_p.E92E	NM_174931.2	NP_777591.3	Q8N954	GPT11_HUMAN	G patch domain containing 11	195							nucleic acid binding (GO:0003676)	p.E92E(1)|p.E195E(1)									aggagactgaagaagatgaag	0.393																																																2	Substitution - coding silent(2)	kidney(2)											89	76	80					2																	37321281		2203	4300	6503	SO:0001819	synonymous_variant	253635			AK095667	CCDS1785.2, CCDS62891.1, CCDS1785.3	2p22.2	2013-11-05	2013-01-28	2013-01-28	ENSG00000152133	ENSG00000152133		"G patch domain containing"	26768	protein-coding gene	gene with protein product	"centromere protein Y"		"coiled-coil domain containing 75"	CCDC75			Standard	NM_001278505		Approved	FLJ38348, CENPY, CENP-Y	uc010ezz.3	Q8N954	OTTHUMG00000128469	ENST00000608836.1:c.585A>G	2.37:g.37321281A>G			A8K0D9|B7Z2G4|B8ZZ44	Silent	SNP	ENST00000608836.1	37	CCDS1785.2																																																																																				0.393	GPATCH11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_174931		G	37321281	A	G	37321281	2	3	493	1	0	0	0	0	0	0	0	1	2851	69	3	3		3	CCDC75	2	37321281	Silent	SNP	A	TCGA-CJ-4640-01A-02D-1386-10		37321281	205878092	6	26609											
DNAH6	1768	broad.mit.edu;ucsc.edu	37	2	84945368	84945368	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr2:84945368A>G	ENST00000237449.6	+	58	9660	c.9652A>G	c.(9652-9654)Aga>Gga	p.R3218G	DNAH6_ENST00000389394.3_Missense_Mutation_p.R3218G			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3218	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3218G(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGAAGAACAAAGAATTAAGCT	0.378																																																1	Substitution - Missense(1)	kidney(1)											188	170	176					2																	84945368		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.9652A>G	2.37:g.84945368A>G	ENSP00000237449:p.Arg3218Gly		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.358110	0.61403	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.23348	1.91;1.91	5.69	5.69	0.88448	.	0.130133	0.35124	N	0.003439	T	0.58878	0.2153	M	0.91768	3.24	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.68750	-0.5326	10	0.87932	D	0	.	13.899	0.63790	1.0:0.0:0.0:0.0	.	3218	Q9C0G6	DYH6_HUMAN	G	3218	ENSP00000374045:R3218G;ENSP00000237449:R3218G	ENSP00000237449:R3218G	R	+	1	2	DNAH6	84798879	1.000000	0.71417	0.994000	0.49952	0.619000	0.37552	3.730000	0.55006	2.170000	0.68504	0.528000	0.53228	AGA		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		G	84945368	A	G	84945368	3	3	493	1	0	0	0	0	1	0	0	0	4607	64	3	3	9882	3	DNAH6	2	84945368	Missense_Mutation	SNP	A	TCGA-CJ-4640-01A-02D-1386-10	47624087	84945368	158254005	7	26610											
DPP10	57628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	116594279	116594279	+	Silent	SNP	C	C	A	rs138029087		TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr2:116594279C>A	ENST00000410059.1	+	24	2619	c.2139C>A	c.(2137-2139)ggC>ggA	p.G713G	DPP10_ENST00000310323.8_Silent_p.G706G|DPP10_ENST00000393147.2_Silent_p.G717G|DPP10_ENST00000409163.1_Silent_p.G663G	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	713						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.G713G(1)|p.G706G(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATGTTCATGGCTTGAAAGAAG	0.313																																																2	Substitution - coding silent(2)	kidney(2)											84	100	95					2																	116594279		2203	4300	6503	SO:0001819	synonymous_variant	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2139C>A	2.37:g.116594279C>A			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	CCDS46400.1																																																																																				0.313	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		A	116594279	C	A	116594279	2	1	493	1	0	0	0	0	0	0	0	1	4729	784	28	4		4	DPP10	2	116594279	Silent	SNP	C	TCGA-CJ-4640-01A-02D-1386-10	31648911	116594279	126605094	8	26611											
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170027130	170027130	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr2:170027130A>G	ENST00000263816.3	-	59	11596	c.11311T>C	c.(11311-11313)Tgc>Cgc	p.C3771R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3771	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.C3771R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GAGGGAATGCACTGCTGATTG	0.512																																																1	Substitution - Missense(1)	kidney(1)											179	145	157					2																	170027130		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11311T>C	2.37:g.170027130A>G	ENSP00000263816:p.Cys3771Arg		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552383	0.65311	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.99919	-8.0	5.86	5.86	0.93980	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99949	0.9978	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95982	0.8978	10	0.87932	D	0	.	16.2668	0.82588	1.0:0.0:0.0:0.0	.	3771	P98164	LRP2_HUMAN	R	3771;466	ENSP00000263816:C3771R	ENSP00000263816:C3771R	C	-	1	0	LRP2	169735376	1.000000	0.71417	0.927000	0.36925	0.137000	0.21094	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	TGC		0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170027130	A	G	170027130	3	3	493	1	0	0	0	0	1	0	0	0	8958	159	6	3	2740	3	LRP2	2	170027130	Missense_Mutation	SNP	A	TCGA-CJ-4640-01A-02D-1386-10	53432851	170027130	73172243	9	26612											
DNAH7	56171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	2	196737119	196737120	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr2:196737119_196737120GC>TT	ENST00000312428.6	-	40	6587_6588	c.6487_6488GC>AA	c.(6487-6489)GCa>AAa	p.A2163K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2163	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.A2163E(1)|p.A2163T(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTCTTCATTGCTTCTTTATAC	0.337																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6487_6488delinsTT	2.37:g.196737119_196737120delinsTT	ENSP00000311273:p.Ala2163Lys		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																				0.337	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		TT	196737120	GC	TT	196737119	3	4	493	1	0	0	0	0	1	0	0	0	4608	1319	46	4	5690	4	DNAH7	2	196737119	Missense_Mutation	DNP	GC	TCGA-CJ-4640-01A-02D-1386-10	26709989	196737119	46462254	10	26613											
NIF3L1	60491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201768224	201768224	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr2:201768224G>T	ENST00000409020.1	+	7	1251	c.957G>T	c.(955-957)atG>atT	p.M319I	NIF3L1_ENST00000416651.1_Missense_Mutation_p.M319I|NIF3L1_ENST00000409357.1_Missense_Mutation_p.M319I|NIF3L1_ENST00000359683.4_Missense_Mutation_p.M292I|NIF3L1_ENST00000409588.1_Missense_Mutation_p.C273F			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	319					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)	p.M292I(1)|p.M319I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TAGGTGAGATGTCCCATCATG	0.398																																																2	Substitution - Missense(2)	kidney(2)											149	143	145					2																	201768224		1897	4128	6025	SO:0001583	missense	60491			AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1", "NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.957G>T	2.37:g.201768224G>T	ENSP00000386394:p.Met319Ile		Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	CCDS46485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.802648|3.802648	0.70682|0.70682	.|.	.|.	ENSG00000196290|ENSG00000196290	ENST00000409588|ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357	.|T;T;T;T	.|0.37752	.|1.18;1.18;1.18;1.18	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.034595	.|0.85682	.|D	.|0.000000	T|T	0.35219|0.35219	0.0924|0.0924	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.48230	1.0|0.907	D|P	0.87578|0.47981	0.998|0.563	T|T	0.03384|0.03384	-1.1042|-1.1042	7|9	0.46703|0.08179	T|T	0.11|0.78	-18.7442|-18.7442	19.3851|19.3851	0.94553|0.94553	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	273|319	Q6X735|Q9GZT8	.|NIF3L_HUMAN	F|I	273|319;319;292;319	.|ENSP00000400787:M319I;ENSP00000386394:M319I;ENSP00000352711:M292I;ENSP00000387315:M319I	ENSP00000387021:C273F|ENSP00000352711:M292I	C|M	+|+	2|3	0|0	NIF3L1|NIF3L1	201476469|201476469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	9.301000|9.301000	0.96167|0.96167	2.656000|2.656000	0.90262|0.90262	0.557000|0.557000	0.71058|0.71058	TGT|ATG		0.398	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		T	201768224	G	T	201768224	3	4	493	1	0	0	0	0	1	0	0	0	10418	1377	48	4	979	4	NIF3L1	2	201768224	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	5031105	201768224	41431149	11	26614											
TMPPE	643853	broad.mit.edu	37	3	33135687	33135687	+	Start_Codon_Del	DEL	T	T	-			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr3:33135687delT	ENST00000342462.4	-	0	191				GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain							integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						AAGATGGCCATTTTCTCTGCT	0.572																																																0													46	46	46					3																	33135687		2198	4282	6480	SO:0001582	initiator_codon_variant	643853			AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779		3.37:g.33135687delT			B2RNG5|Q6ZRG1	Frame_Shift_Del	DEL	ENST00000342462.4	37	CCDS33732.1																																																																																				0.572	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		-	33135687	T	-	33135687	7	5	493	1	0	1	0	1	0	0	0	0	16243	1493	52	0	1364	0	TMPPE	3	33135687	Start_Codon_Del	DEL	T	TCGA-CJ-4640-01A-02D-1386-10		33135687	164886743	12	26615											
CBLB	868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	105389115	105389115	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr3:105389115C>A	ENST00000264122.4	-	18	2972	c.2651G>T	c.(2650-2652)aGa>aTa	p.R884I	CBLB_ENST00000407712.1_Missense_Mutation_p.R99I|CBLB_ENST00000394027.3_Missense_Mutation_p.R862I	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	884	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R884I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGTGATGTTCTGTTAGTTTT	0.368			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	1	Substitution - Missense(1)	kidney(1)											158	139	145					3																	105389115		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2651G>T	3.37:g.105389115C>A	ENSP00000264122:p.Arg884Ile		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658506	0.88154	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;D;T;D	0.86432	-1.47;-2.07;-1.4;-2.12	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.998	D;D;D	0.78314	0.986;0.991;0.991	D	0.90892	0.4762	10	0.87932	D	0	-19.2085	18.4242	0.90604	0.0:1.0:0.0:0.0	.	862;884;862	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	I	223;884;99;862	ENSP00000377598:R223I;ENSP00000264122:R884I;ENSP00000384170:R99I;ENSP00000377595:R862I	ENSP00000264122:R884I	R	-	2	0	CBLB	106871805	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.464000	0.53057	2.865000	0.98341	0.655000	0.94253	AGA		0.368	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		A	105389115	C	A	105389115	3	1	493	1	0	0	0	0	1	0	0	0	2703	913	32	4	305	4	CBLB	3	105389115	Missense_Mutation	SNP	C	TCGA-CJ-4640-01A-02D-1386-10	72253428	105389115	92633315	13	26616											
ANK2	287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	114286249	114286249	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr4:114286249T>A	ENST00000357077.4	+	41	10996	c.10943T>A	c.(10942-10944)cTc>cAc	p.L3648H	ANK2_ENST00000264366.6_Missense_Mutation_p.L3615H|ANK2_ENST00000394537.3_Missense_Mutation_p.L1563H|ANK2_ENST00000510275.2_Missense_Mutation_p.L215H|ANK2_ENST00000506722.1_Missense_Mutation_p.L1554H|ANK2_ENST00000509550.1_Missense_Mutation_p.L739H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3648	Death 2. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L3648H(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATTGTTCATCTCATGGAGACC	0.418																																																1	Substitution - Missense(1)	kidney(1)											164	145	151					4																	114286249		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10943T>A	4.37:g.114286249T>A	ENSP00000349588:p.Leu3648His		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.815673	0.90790	.	.	ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.41	5.41	0.78517	.	0.140362	0.32578	N	0.005917	D	0.91402	0.7287	L	0.49126	1.545	0.51482	D	0.999926	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.982;1.0;0.978;1.0;1.0	D	0.91973	0.5588	10	0.59425	D	0.04	.	15.4301	0.75087	0.0:0.0:0.0:1.0	.	739;598;564;1563;3648;1554	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;.;.;.;.;.	H	1554;598;1563;3648;3615;1554;739;215;658	ENSP00000421067:L1554H;ENSP00000378044:L1563H;ENSP00000349588:L3648H;ENSP00000264366:L3615H;ENSP00000426944:L739H;ENSP00000421023:L215H;ENSP00000422498:L658H	ENSP00000264366:L3615H	L	+	2	0	ANK2	114505698	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.557000	0.82243	2.056000	0.61249	0.459000	0.35465	CTC		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114286249	T	A	114286249	3	1	493	1	0	0	0	0	1	0	0	0	621	1551	54	5	11170	5	ANK2	4	114286249	Missense_Mutation	SNP	T	TCGA-CJ-4640-01A-02D-1386-10		114286249	76868027	14	26617											
IQGAP2	10788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	75896708	75896708	+	Silent	SNP	C	C	G			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr5:75896708C>G	ENST00000274364.6	+	11	1440	c.1143C>G	c.(1141-1143)gcC>gcG	p.A381A	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	381					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.A381A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAAACCAGGCCTTGGAAAGCA	0.448																																																1	Substitution - coding silent(1)	kidney(1)											155	137	143					5																	75896708		2203	4300	6503	SO:0001819	synonymous_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1143C>G	5.37:g.75896708C>G			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	CCDS34188.1																																																																																				0.448	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		G	75896708	C	G	75896708	2	3	493	1	0	0	0	0	0	0	0	1	7817	668	24	4		4	IQGAP2	5	75896708	Silent	SNP	C	TCGA-CJ-4640-01A-02D-1386-10		75896708	105018552	15	26618											
LRFN2	57497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	40400231	40400231	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr6:40400231G>A	ENST00000338305.6	-	2	1164	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	208						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R208W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTCTGCAGCCGATTGGAGGTG	0.612																																																1	Substitution - Missense(1)	kidney(1)											60	65	63					6																	40400231		2203	4300	6503	SO:0001583	missense	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.622C>T	6.37:g.40400231G>A	ENSP00000345985:p.Arg208Trp		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747409	0.49257	.	.	ENSG00000156564	ENST00000338305	T	0.60040	0.22	5.76	-0.821	0.10822	.	0.000000	0.85682	D	0.000000	T	0.66771	0.2823	M	0.83012	2.62	0.53688	D	0.999975	D	0.89917	1.0	D	0.81914	0.995	T	0.73036	-0.4109	10	0.87932	D	0	.	13.4278	0.61037	0.0:0.0957:0.2379:0.6664	.	208	Q9ULH4	LRFN2_HUMAN	W	208	ENSP00000345985:R208W	ENSP00000345985:R208W	R	-	1	2	LRFN2	40508209	1.000000	0.71417	0.726000	0.30738	0.801000	0.45260	0.991000	0.29654	-0.493000	0.06678	0.655000	0.94253	CGG		0.612	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		A	40400231	G	A	40400231	3	1	493	1	0	0	0	0	1	0	0	0	8940	1057	37	1	1755	1	LRFN2	6	40400231	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10		40400231	130714836	16	26619											
SRRT	51593	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100483954	100483954	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr7:100483954G>C	ENST00000347433.4	+	13	1703	c.1545G>C	c.(1543-1545)caG>caC	p.Q515H	SRRT_ENST00000432932.1_Missense_Mutation_p.Q514H|SRRT_ENST00000388793.4_Missense_Mutation_p.Q514H|SRRT_ENST00000457580.2_Missense_Mutation_p.Q515H			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	515					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q515H(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCACAAGCAGATTGTGCGCA	0.622																																																1	Substitution - Missense(1)	kidney(1)											106	82	90					7																	100483954		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1545G>C	7.37:g.100483954G>C	ENSP00000314491:p.Gln515His		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527439	0.85706	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	5.64	5.64	0.86602	.	0.063421	0.64402	D	0.000003	T	0.69459	0.3113	M	0.67397	2.05	0.58432	D	0.999999	D;D;D;D	0.60160	0.987;0.986;0.986;0.976	P;P;P;P	0.59825	0.773;0.864;0.864;0.735	T	0.70149	-0.4951	9	0.49607	T	0.09	.	12.8502	0.57852	0.0:0.1641:0.8359:0.0	.	514;514;515;515	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	H	515;514;514;515;145	.	ENSP00000314491:Q515H	Q	+	3	2	SRRT	100321890	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.381000	0.59587	2.651000	0.90000	0.655000	0.94253	CAG		0.622	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		C	100483954	G	C	100483954	3	2	493	1	0	0	0	0	1	0	0	0	15177	933	33	4	1591	4	SRRT	7	100483954	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10		100483954	58654709	17	26620											
ADAM28	10863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	24170950	24170950	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr8:24170950C>T	ENST00000265769.4	+	6	543	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.P145S|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_Intron	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	145					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P145S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACCTTTAAGCCCCATACATCG	0.438																																					NSCLC(193;488 2149 22258 34798 40734)											1	Substitution - Missense(1)	kidney(1)											126	113	118					8																	24170950		2203	4300	6503	SO:0001583	missense	10863			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.433C>T	8.37:g.24170950C>T	ENSP00000265769:p.Pro145Ser		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	1.422	-0.572703	0.03882	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.04970	3.52;3.52	5.49	1.51	0.23008	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.03695	0.0105	N	0.24115	0.695	0.09310	N	0.999998	B;B	0.09022	0.002;0.001	B;B	0.14578	0.011;0.004	T	0.48875	-0.8996	9	0.09338	T	0.73	.	5.1403	0.14955	0.0:0.5917:0.1496:0.2586	.	145;145	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	S	145	ENSP00000265769:P145S;ENSP00000393699:P145S	ENSP00000265769:P145S	P	+	1	0	ADAM28	24226895	0.000000	0.05858	0.010000	0.14722	0.096000	0.18686	-0.651000	0.05372	0.052000	0.16007	-0.254000	0.11334	CCC		0.438	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		T	24170950	C	T	24170950	3	4	493	1	0	0	0	0	1	0	0	0	246	623	22	2	455	2	ADAM28	8	24170950	Missense_Mutation	SNP	C	TCGA-CJ-4640-01A-02D-1386-10		24170950	122193072	18	26621											
TTC18	118491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75095189	75095189	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr10:75095189T>C	ENST00000310715.3	-	8	1006	c.886A>G	c.(886-888)Agt>Ggt	p.S296G	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Splice_Site_p.S296G|TTC18_ENST00000394865.1_Splice_Site_p.S296G	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		296						extracellular vesicular exosome (GO:0070062)		p.S296G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCTTCTTACCTGACCACTGCA	0.383																																																1	Substitution - Missense(1)	kidney(1)											106	96	100					10																	75095189		2203	4300	6503	SO:0001630	splice_region_variant	118491																														ENST00000310715.3:c.887+1A>G	10.37:g.75095189T>C			C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631651	0.46944	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	T;T;T	0.33865	1.8;1.8;1.39	5.3	5.3	0.74995	.	0.206492	0.49916	D	0.000135	T	0.35682	0.0940	M	0.61703	1.905	0.42608	D	0.993301	P;P	0.48911	0.804;0.917	B;B	0.39185	0.242;0.293	T	0.38045	-0.9679	10	0.56958	D	0.05	-10.7501	13.1716	0.59602	0.0:0.0:0.0:1.0	.	296;296	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	G	296	ENSP00000310829:S296G;ENSP00000384479:S296G;ENSP00000378334:S296G	ENSP00000310829:S296G	S	-	1	0	TTC18	74765195	1.000000	0.71417	0.995000	0.50966	0.893000	0.52053	2.062000	0.41413	2.001000	0.58596	0.397000	0.26171	AGT		0.383	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Missense_Mutation	C	75095189	T	C	75095189	5	2	493	1	0	0	0	0	0	0	1	0	16690	1594	55	3	2563	3	TTC18	10	75095189	Splice_Site	SNP	T	TCGA-CJ-4640-01A-02D-1386-10		75095189	60439558	19	26622											
RRP12	23223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99125881	99125881	+	Silent	SNP	T	T	C			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr10:99125881T>C	ENST00000370992.4	-	29	3612	c.3501A>G	c.(3499-3501)gaA>gaG	p.E1167E	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.E1106E|RRP12_ENST00000315563.6_Silent_p.E1067E|RRP12_ENST00000536831.1_Silent_p.E885E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1167						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E1167E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CACCTTCCTCTTCCTCCATCT	0.577																																																1	Substitution - coding silent(1)	kidney(1)											231	179	196					10																	99125881		2203	4300	6503	SO:0001819	synonymous_variant	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3501A>G	10.37:g.99125881T>C			B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																				0.577	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		C	99125881	T	C	99125881	2	2	493	1	0	0	0	0	0	0	0	1	13692	1606	56	3		3	RRP12	10	99125881	Silent	SNP	T	TCGA-CJ-4640-01A-02D-1386-10	24030692	99125881	36408866	20	26623											
CRTAC1	55118	broad.mit.edu;ucsc.edu	37	10	99664546	99664546	+	Silent	SNP	C	C	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr10:99664546C>T	ENST00000370597.3	-	7	1231	c.876G>A	c.(874-876)ggG>ggA	p.G292G	CRTAC1_ENST00000298819.4_Silent_p.G292G|CRTAC1_ENST00000370591.2_Silent_p.G292G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	292						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G292G(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CGACACCTCGCCCATGCTGGT	0.607																																																1	Substitution - coding silent(1)	kidney(1)											89	86	87					10																	99664546		2203	4300	6503	SO:0001819	synonymous_variant	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.876G>A	10.37:g.99664546C>T			B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	CCDS31266.1																																																																																				0.607	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		T	99664546	C	T	99664546	2	4	493	1	0	0	0	0	0	0	0	1	3898	726	26	2		2	CRTAC1	10	99664546	Silent	SNP	C	TCGA-CJ-4640-01A-02D-1386-10	538665	99664546	35870201	21	26624											
CNNM2	54805	broad.mit.edu	37	10	104678907	104678909	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	CCG	CCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr10:104678907_104678909delCCG	ENST00000369878.4	+	1	858_860	c.670_672delCCG	c.(670-672)ccgdel	p.P227del	CNNM2_ENST00000369875.3_In_Frame_Del_p.P227del|CNNM2_ENST00000433628.2_In_Frame_Del_p.P227del	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	227					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGCCGGGCTCCCGCCGCCCCCGT	0.719																																																0																																										SO:0001651	inframe_deletion	54805			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.670_672delCCG	10.37:g.104678910_104678912delCCG	ENSP00000358894:p.Pro227del		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	In_Frame_Del	DEL	ENST00000369878.4	37	CCDS44474.1																																																																																				0.719	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		-	104678909	CCG	-	104678907	7	5	493	1	0	1	0	1	0	0	0	0	3615	623	22	0	672	0	CNNM2	10	104678907	In_Frame_Del	DEL	CCG	TCGA-CJ-4640-01A-02D-1386-10	5014361	104678907	30855840	22	26625											
NAP1L4	4676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	2992733	2992733	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr11:2992733G>A	ENST00000380542.4	-	6	487	c.347C>T	c.(346-348)cCa>cTa	p.P116L	NAP1L4_ENST00000526115.1_Missense_Mutation_p.P116L	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	116					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.P116L(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CGCATCTGTTGGTTCAACATC	0.343																																																1	Substitution - Missense(1)	kidney(1)											102	94	96					11																	2992733		1826	4086	5912	SO:0001583	missense	4676			AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.347C>T	11.37:g.2992733G>A	ENSP00000369915:p.Pro116Leu		B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761350	0.69763	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115;ENST00000448187;ENST00000399614;ENST00000430811;ENST00000529361;ENST00000528968;ENST00000530064;ENST00000526842	T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	M	0.87682	2.9	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70016	0.964;0.967	T	0.67856	-0.5562	10	0.56958	D	0.05	-7.1136	18.478	0.90800	0.0:0.0:1.0:0.0	.	116;116	F5HFY4;Q99733	.;NP1L4_HUMAN	L	116;116;116;128;85;116;128;116;116;116	ENSP00000369915:P116L;ENSP00000436397:P116L;ENSP00000387783:P128L;ENSP00000382523:P85L;ENSP00000405912:P116L;ENSP00000435327:P128L;ENSP00000434759:P116L;ENSP00000432126:P116L;ENSP00000431799:P116L	ENSP00000369915:P116L	P	-	2	0	NAP1L4	2949309	1.000000	0.71417	0.914000	0.36105	0.164000	0.22412	8.850000	0.92190	2.587000	0.87381	0.655000	0.94253	CCA		0.343	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969		A	2992733	G	A	2992733	3	1	493	1	0	0	0	0	1	0	0	0	10161	1348	47	2	820	2	NAP1L4	11	2992733	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10		2992733	132013783	23	26626											
DNHD1	144132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6566997	6566997	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr11:6566997G>C	ENST00000527990.2	+	19	4828	c.4828G>C	c.(4828-4830)Ggt>Cgt	p.G1610R	DNHD1_ENST00000254579.6_Missense_Mutation_p.G1610R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1610					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.G268R(1)|p.G1610R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTATCACTTGGGTTCACCTCA	0.512																																																2	Substitution - Missense(2)	kidney(2)											68	62	63					11																	6566997		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.4828G>C	11.37:g.6566997G>C	ENSP00000436180:p.Gly1610Arg		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277888	0.59758	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.25749	1.78;1.78	5.65	5.65	0.86999	.	0.287900	0.33938	N	0.004405	T	0.43366	0.1244	L	0.53249	1.67	0.41513	D	0.988359	D	0.63880	0.993	D	0.62955	0.909	T	0.06373	-1.0830	10	0.25106	T	0.35	.	16.6573	0.85232	0.0:0.0:1.0:0.0	.	1610	Q96M86	DNHD1_HUMAN	R	1610	ENSP00000254579:G1610R;ENSP00000436180:G1610R	ENSP00000254579:G1610R	G	+	1	0	DNHD1	6523573	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.990000	0.70595	2.655000	0.90218	0.655000	0.94253	GGT		0.512	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6566997	G	C	6566997	3	2	493	1	0	0	0	0	1	0	0	0	4670	1232	43	4	4911	4	DNHD1	11	6566997	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	3574264	6566997	128439519	24	26627											
LRP4	4038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46894661	46894661	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr11:46894661C>G	ENST00000378623.1	-	30	4815	c.4573G>C	c.(4573-4575)Gat>Cat	p.D1525H	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1525					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.D1525H(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTGCGGGTATCATAGTCCAGG	0.502																																																1	Substitution - Missense(1)	kidney(1)											116	112	113					11																	46894661		2201	4299	6500	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4573G>C	11.37:g.46894661C>G	ENSP00000367888:p.Asp1525His		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470954	0.84533	.	.	ENSG00000134569	ENST00000378623	D	0.93547	-3.24	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	N	0.20401	0.57	0.80722	D	1	B	0.31100	0.308	B	0.27076	0.076	D	0.86301	0.1680	10	0.48119	T	0.1	.	19.5934	0.95525	0.0:1.0:0.0:0.0	.	1525	O75096	LRP4_HUMAN	H	1525	ENSP00000367888:D1525H	ENSP00000367888:D1525H	D	-	1	0	LRP4	46851237	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.016000	0.70798	2.724000	0.93272	0.561000	0.74099	GAT		0.502	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		G	46894661	C	G	46894661	3	3	493	1	0	0	0	0	1	0	0	0	8961	826	29	4	1180	4	LRP4	11	46894661	Missense_Mutation	SNP	C	TCGA-CJ-4640-01A-02D-1386-10	40327664	46894661	88111855	25	26628											
NPAS4	266743	broad.mit.edu	37	11	66192144	66192144	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr11:66192144C>T	ENST00000311034.2	+	7	1959	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	595					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.R595W(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCCCAGCTCCGGGGCCCCCT	0.592																																																1	Substitution - Missense(1)	kidney(1)											66	76	73					11																	66192144		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1783C>T	11.37:g.66192144C>T	ENSP00000311196:p.Arg595Trp		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860789	0.71834	.	.	ENSG00000174576	ENST00000311034	T	0.60548	0.18	4.69	4.69	0.59074	.	0.000000	0.50627	D	0.000112	T	0.63604	0.2525	N	0.24115	0.695	0.58432	D	0.999992	D	0.89917	1.0	D	0.77557	0.99	T	0.68243	-0.5460	10	0.72032	D	0.01	-13.1114	15.1587	0.72764	0.0:1.0:0.0:0.0	.	595	Q8IUM7	NPAS4_HUMAN	W	595	ENSP00000311196:R595W	ENSP00000311196:R595W	R	+	1	2	NPAS4	65948720	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.649000	0.46656	2.443000	0.82685	0.655000	0.94253	CGG		0.592	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		T	66192144	C	T	66192144	3	4	493	1	0	0	0	0	1	0	0	0	10567	643	23	1	1809	1	NPAS4	11	66192144	Missense_Mutation	SNP	C	TCGA-CJ-4640-01A-02D-1386-10	19297483	66192144	68814372	26	26629											
NOP2	4839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6672820	6672820	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr12:6672820C>A	ENST00000322166.5	-	7	769	c.648G>T	c.(646-648)gaG>gaT	p.E216D	NOP2_ENST00000541778.1_Missense_Mutation_p.E212D|NOP2_ENST00000537442.1_Missense_Mutation_p.E216D|NOP2_ENST00000399466.2_Missense_Mutation_p.E212D|NOP2_ENST00000382421.3_Missense_Mutation_p.E249D|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000545200.1_Missense_Mutation_p.E212D	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	216					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.E212D(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAAATGGTTCCTCATCCACAT	0.572											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											49	51	50					12																	6672820		1974	4140	6114	SO:0001583	missense	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.648G>T	12.37:g.6672820C>A	ENSP00000313272:p.Glu216Asp	635	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064626	0.36470	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944;ENST00000542867	T;T;T;T;T;T;T;T	0.52526	2.47;2.41;2.5;2.46;2.47;2.46;0.85;0.66	5.84	3.02	0.34903	.	0.524779	0.21862	N	0.068015	T	0.31389	0.0795	L	0.35341	1.055	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.003;0.005	T	0.07790	-1.0754	10	0.33940	T	0.23	-22.58	4.4629	0.11675	0.1472:0.5568:0.0:0.296	.	249;212	Q3KQS4;P46087-2	.;.	D	216;249;212;212;216;212;92;212	ENSP00000444437:E216D;ENSP00000371858:E249D;ENSP00000439422:E212D;ENSP00000382392:E212D;ENSP00000313272:E216D;ENSP00000443150:E212D;ENSP00000440754:E92D;ENSP00000443035:E212D	ENSP00000313272:E216D	E	-	3	2	NOP2	6543081	0.125000	0.22332	0.933000	0.37362	0.778000	0.44026	0.079000	0.14782	0.368000	0.24481	0.563000	0.77884	GAG		0.572	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		A	6672820	C	A	6672820	3	1	493	1	0	0	0	0	1	0	0	0	10540	680	24	4	1830	4	NOP2	12	6672820	Missense_Mutation	SNP	C	TCGA-CJ-4640-01A-02D-1386-10		6672820	127179075	27	26630											
GNPTAB	79158	hgsc.bcm.edu;ucsc.edu	37	12	102151009	102151009	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr12:102151009C>T	ENST00000299314.7	-	18	3677	c.3415G>A	c.(3415-3417)Gac>Aac	p.D1139N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1139					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTTCTTATGTCATCCAACTGG	0.313																																																0													69	67	67					12																	102151009		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3415G>A	12.37:g.102151009C>T	ENSP00000299314:p.Asp1139Asn		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317768	0.95682	.	.	ENSG00000111670	ENST00000299314	D	0.82255	-1.59	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.90232	0.6946	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86794	0.1987	10	0.30078	T	0.28	-29.9449	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1139	Q3T906	GNPTA_HUMAN	N	1139	ENSP00000299314:D1139N	ENSP00000299314:D1139N	D	-	1	0	GNPTAB	100675140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.459000	0.80802	2.871000	0.98454	0.655000	0.94253	GAC		0.313	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			T	102151009	C	T	102151009	3	4	493	1	0	0	0	0	1	0	0	0	6547	826	29	2	371	2	GNPTAB	12	102151009	Missense_Mutation	SNP	C	TCGA-CJ-4640-01A-02D-1386-10	95478189	102151009	31700886	28	26631											
ZCCHC8	55596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122967187	122967187	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr12:122967187G>A	ENST00000336229.4	-	8	857	c.727C>T	c.(727-729)Cca>Tca	p.P243S	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.P5S|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P5S	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	243					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P243S(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTACCATTGGGCAATCTTTC	0.303																																																1	Substitution - Missense(1)	kidney(1)											38	39	38					12																	122967187		1810	4054	5864	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.727C>T	12.37:g.122967187G>A	ENSP00000337313:p.Pro243Ser		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	G	17.82	3.482416	0.63962	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000544054;ENST00000536663;ENST00000540586	T;T;T	0.56776	0.56;0.56;0.44	5.48	4.59	0.56863	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.047258	0.85682	N	0.000000	T	0.57431	0.2053	M	0.77486	2.375	0.58432	D	0.999999	B	0.30542	0.284	B	0.33690	0.168	T	0.61486	-0.7053	10	0.62326	D	0.03	-8.0519	14.2511	0.66021	0.072:0.0:0.928:0.0	.	243	Q6NZY4	ZCHC8_HUMAN	S	5;5;243;5;5;5	ENSP00000441423:P5S;ENSP00000438993:P5S;ENSP00000337313:P243S	ENSP00000337313:P243S	P	-	1	0	ZCCHC8	121533140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.455000	0.73497	1.317000	0.45149	0.455000	0.32223	CCA		0.303	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		A	122967187	G	A	122967187	3	1	493	1	0	0	0	0	1	0	0	0	17599	1232	43	2	1424	2	ZCCHC8	12	122967187	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	20816178	122967187	10884708	29	26632											
C13orf15	28984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42042974	42042974	+	Splice_Site	SNP	A	A	G			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr13:42042974A>G	ENST00000379359.3	+	4	555	c.406A>G	c.(406-408)Agt>Ggt	p.S136G	RGCC_ENST00000487837.1_3'UTR	NM_014059.2	NP_054778.2	Q9H4X1	RGCC_HUMAN	regulator of cell cycle	136					cellular response to hypoxia (GO:0071456)|complement activation (GO:0006956)|fibroblast activation (GO:0072537)|mitotic cell cycle arrest (GO:0071850)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of exit from mitosis (GO:0001100)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mitotic cell cycle phase transition (GO:1901991)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of mitosis (GO:0045840)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stress fiber assembly (GO:0051496)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)	p.S136G(1)									AACTTTAGCAAGTAAGTACAT	0.383																																																1	Substitution - Missense(1)	kidney(1)											64	59	60					13																	42042974		1826	4087	5913	SO:0001630	splice_region_variant	0			AF036549	CCDS41880.1	13q14.11	2012-02-20	2012-02-20	2012-02-20	ENSG00000102760	ENSG00000102760			20369	protein-coding gene	gene with protein product	"response gene to complement 32"	610077	"chromosome 13 open reading frame 15"	C13orf15		17146433, 19158077, 19652095	Standard	NM_014059		Approved	bA157L14.2, RGC-32, RGC32	uc001uyi.2	Q9H4X1	OTTHUMG00000016796	ENST00000379359.3:c.406+1A>G	13.37:g.42042974A>G			Q6NZ48|Q9UL69	Missense_Mutation	SNP	ENST00000379359.3	37	CCDS41880.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023075	0.75275	.	.	ENSG00000102760	ENST00000379359	.	.	.	5.84	4.65	0.58169	.	0.041945	0.85682	D	0.000000	T	0.56775	0.2008	M	0.66939	2.045	0.49798	D	0.999822	P	0.46142	0.873	B	0.43251	0.413	T	0.60974	-0.7156	9	0.46703	T	0.11	-13.7277	11.3509	0.49587	0.9262:0.0:0.0738:0.0	.	136	Q9H4X1	RGC32_HUMAN	G	136	.	ENSP00000368664:S136G	S	+	1	0	C13orf15	40940974	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.039000	0.76544	2.239000	0.73571	0.533000	0.62120	AGT		0.383	RGCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044684.1	NM_014059	Missense_Mutation	G	42042974	A	G	42042974	5	3	493	1	0	0	0	0	0	0	1	0	1720	86	3	3	420	3	C13orf15	13	42042974	Splice_Site	SNP	A	TCGA-CJ-4640-01A-02D-1386-10		42042974	73126904	30	26633											
PELI2	57161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	56757030	56757030	+	Silent	SNP	G	G	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr14:56757030G>T	ENST00000267460.4	+	5	838	c.552G>T	c.(550-552)ggG>ggT	p.G184G		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	184	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.G184G(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ACATGGATGGGCTCACTACTA	0.532																																																1	Substitution - coding silent(1)	kidney(1)											92	98	96					14																	56757030		2203	4300	6503	SO:0001819	synonymous_variant	57161			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"Pellino homologs"	8828	protein-coding gene	gene with protein product		614798	"pellino (Drosophila) homolog 2", "pellino homolog 2 (Drosophila)"			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.552G>T	14.37:g.56757030G>T			B2RDY5	Silent	SNP	ENST00000267460.4	37	CCDS9726.1																																																																																				0.532	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			T	56757030	G	T	56757030	2	4	493	1	0	0	0	0	0	0	0	1	11724	1190	42	4		4	PELI2	14	56757030	Silent	SNP	G	TCGA-CJ-4640-01A-02D-1386-10		56757030	50592510	31	26634											
DAAM1	23002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59834241	59834241	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr14:59834241C>T	ENST00000395125.1	+	24	2974	c.2951C>T	c.(2950-2952)tCa>tTa	p.S984L	DAAM1_ENST00000360909.3_Missense_Mutation_p.S974L|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.S984L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	984	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.S984L(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAAGCTGTGTCAGAAGCCAAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											115	112	113					14																	59834241		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2951C>T	14.37:g.59834241C>T	ENSP00000378557:p.Ser984Leu		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886674	0.33348	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.62941	-0.01;-0.01;-0.01	5.87	5.87	0.94306	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (2);	0.696787	0.15303	N	0.269539	T	0.46814	0.1412	N	0.21373	0.66	0.09310	N	1	B;B	0.26445	0.149;0.052	B;B	0.28465	0.09;0.055	T	0.28202	-1.0051	10	0.23891	T	0.37	.	9.5114	0.39078	0.1434:0.7861:0.0:0.0705	.	974;984	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	974;984;984	ENSP00000354162:S974L;ENSP00000247170:S984L;ENSP00000378557:S984L	ENSP00000247170:S984L	S	+	2	0	DAAM1	58903994	0.721000	0.28007	1.000000	0.80357	0.991000	0.79684	3.088000	0.50175	2.941000	0.99782	0.655000	0.94253	TCA		0.408	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		T	59834241	C	T	59834241	3	4	493	1	0	0	0	0	1	0	0	0	4217	838	29	2	3045	2	DAAM1	14	59834241	Missense_Mutation	SNP	C	TCGA-CJ-4640-01A-02D-1386-10	3077211	59834241	47515299	32	26635											
PAPLN	89932	broad.mit.edu	37	14	73721593	73721593	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr14:73721593G>C	ENST00000554301.1	+	13	1657	c.1494G>C	c.(1492-1494)aaG>aaC	p.K498N	PAPLN_ENST00000555445.1_Missense_Mutation_p.K498N|PAPLN_ENST00000427855.1_Missense_Mutation_p.K498N|PAPLN_ENST00000381166.3_Missense_Mutation_p.K498N|PAPLN_ENST00000340738.5_Missense_Mutation_p.K471N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	498	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.K471N(1)|p.K498N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGTGCTCCAAGAGCTGCAGCT	0.672																																																2	Substitution - Missense(2)	kidney(2)											29	32	31					14																	73721593		2203	4300	6503	SO:0001583	missense	89932			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1494G>C	14.37:g.73721593G>C	ENSP00000451803:p.Lys498Asn		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37		.	.	.	.	.	.	.	.	.	.	G	15.65	2.895030	0.52121	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	4.4	1.52	0.23074	.	.	.	.	.	T	0.71264	0.3319	H	0.94222	3.51	0.36774	D	0.883941	D;D;D	0.59767	0.982;0.986;0.985	P;P;P	0.59948	0.79;0.866;0.795	T	0.74134	-0.3763	9	0.19147	T	0.46	.	8.9038	0.35510	0.2492:0.0:0.7508:0.0	.	498;498;471	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	N	471;498;498;498;498	ENSP00000345395:K471N;ENSP00000403403:K498N;ENSP00000370558:K498N;ENSP00000451803:K498N;ENSP00000451729:K498N	ENSP00000216658:K498N	K	+	3	2	PAPLN	72791346	1.000000	0.71417	0.997000	0.53966	0.600000	0.36913	3.162000	0.50755	0.122000	0.18314	0.655000	0.94253	AAG		0.672	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		C	73721593	G	C	73721593	3	2	493	1	0	0	0	0	1	0	0	0	11430	933	33	4	1459	4	PAPLN	14	73721593	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	13887352	73721593	33627947	33	26636											
SNX33	257364	broad.mit.edu;ucsc.edu	37	15	75942381	75942381	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr15:75942381G>T	ENST00000308527.5	+	1	2135	c.938G>T	c.(937-939)tGg>tTg	p.W313L	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	313	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.W313L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTCATCCTCTGGATGGACCAC	0.577																																																1	Substitution - Missense(1)	kidney(1)											100	102	101					15																	75942381		2197	4294	6491	SO:0001583	missense	257364			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.938G>T	15.37:g.75942381G>T	ENSP00000311427:p.Trp313Leu		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527330	0.44969	.	.	ENSG00000173548	ENST00000308527	T	0.29397	1.57	5.68	5.68	0.88126	Phox homologous domain (5);	0.196250	0.50627	D	0.000108	T	0.56381	0.1981	M	0.75884	2.315	0.80722	D	1	D	0.56035	0.974	P	0.62885	0.908	T	0.58429	-0.7638	10	0.87932	D	0	-14.9106	18.7773	0.91916	0.0:0.0:1.0:0.0	.	313	Q8WV41	SNX33_HUMAN	L	313	ENSP00000311427:W313L	ENSP00000311427:W313L	W	+	2	0	SNX33	73729436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.867000	0.99620	2.692000	0.91855	0.561000	0.74099	TGG		0.577	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		T	75942381	G	T	75942381	3	4	493	1	0	0	0	0	1	0	0	0	14909	1357	47	4	940	4	SNX33	15	75942381	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10		75942381	26589011	34	26637											
UMOD	7369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20355352	20355352	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr16:20355352A>G	ENST00000570689.1	-	6	1471	c.1325T>C	c.(1324-1326)aTg>aCg	p.M442T	UMOD_ENST00000396134.2_Missense_Mutation_p.M475T|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396142.2_Missense_Mutation_p.M442T|UMOD_ENST00000302509.4_Missense_Mutation_p.M442T|UMOD_ENST00000396138.4_Missense_Mutation_p.M491T|UMOD_ENST00000424589.1_Missense_Mutation_p.M475T			P07911	UROM_HUMAN	uromodulin	442	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.M442T(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACACCTGACCATTGGCTGTAG	0.547																																																1	Substitution - Missense(1)	kidney(1)											96	85	88					16																	20355352		2203	4300	6503	SO:0001583	missense	7369			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1325T>C	16.37:g.20355352A>G	ENSP00000460548:p.Met442Thr		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	A	9.834	1.189214	0.21954	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.66	4.56	0.56223	Zona pellucida sperm-binding protein (3);	0.641141	0.15332	N	0.267922	T	0.67411	0.2890	N	0.12961	0.28	0.24132	N	0.995766	B;B	0.17465	0.022;0.002	B;B	0.19946	0.024;0.027	T	0.58498	-0.7626	10	0.49607	T	0.09	-8.1738	11.1604	0.48512	0.8453:0.1547:0.0:0.0	.	475;442	E9PEA4;P07911	.;UROM_HUMAN	T	442;475;475;442;420;442	ENSP00000379438:M475T;ENSP00000416346:M475T;ENSP00000306279:M442T;ENSP00000379446:M442T	ENSP00000306279:M442T	M	-	2	0	UMOD	20262853	0.360000	0.24964	0.580000	0.28601	0.515000	0.34225	5.093000	0.64517	0.958000	0.37956	0.533000	0.62120	ATG		0.547	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			G	20355352	A	G	20355352	3	3	493	1	0	0	0	0	1	0	0	0	16984	217	8	3	621	3	UMOD	16	20355352	Missense_Mutation	SNP	A	TCGA-CJ-4640-01A-02D-1386-10		20355352	69999401	35	26638											
RNF40	9810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30776560	30776560	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr16:30776560C>T	ENST00000324685.6	+	7	1265	c.830C>T	c.(829-831)aCa>aTa	p.T277I	RNF40_ENST00000563683.1_Missense_Mutation_p.T277I|RNF40_ENST00000357890.5_Missense_Mutation_p.T277I|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000543610.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	277					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T277I(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGATGGAGACAACAGTGGAG	0.567																																																1	Substitution - Missense(1)	kidney(1)											108	105	106					16																	30776560		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.830C>T	16.37:g.30776560C>T	ENSP00000325677:p.Thr277Ile		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696013	0.68386	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	T;T	0.34072	1.52;1.38	5.79	5.79	0.91817	.	0.049290	0.85682	D	0.000000	T	0.51024	0.1650	M	0.62723	1.935	0.80722	D	1	D;B;B	0.55385	0.971;0.262;0.444	P;B;B	0.55455	0.776;0.266;0.215	T	0.50482	-0.8823	10	0.62326	D	0.03	-19.3399	14.416	0.67151	0.0:0.8523:0.1477:0.0	.	277;277;277	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	I	277;277;126	ENSP00000325677:T277I;ENSP00000350563:T277I	ENSP00000325677:T277I	T	+	2	0	RNF40	30684061	1.000000	0.71417	0.964000	0.40570	0.862000	0.49288	5.492000	0.66893	2.735000	0.93741	0.655000	0.94253	ACA		0.567	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		T	30776560	C	T	30776560	3	4	493	1	0	0	0	0	1	0	0	0	13499	478	17	2	852	2	RNF40	16	30776560	Missense_Mutation	SNP	C	TCGA-CJ-4640-01A-02D-1386-10	10421208	30776560	59578193	36	26639											
SHMT1	6470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18243556	18243556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr17:18243556G>T	ENST00000316694.3	-	7	749	c.615C>A	c.(613-615)taC>taA	p.Y205*	SHMT1_ENST00000354098.3_Nonsense_Mutation_p.Y205*|SHMT1_ENST00000352886.6_Nonsense_Mutation_p.Y205*|SHMT1_ENST00000539052.1_Nonsense_Mutation_p.Y67*	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	205					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.Y205*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	GGTTTCGGGAGTAGCAGCTGG	0.577																																																1	Substitution - Nonsense(1)	kidney(1)											74	67	69					17																	18243556		2203	4300	6503	SO:0001587	stop_gained	6470				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.615C>A	17.37:g.18243556G>T	ENSP00000318868:p.Tyr205*		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Nonsense_Mutation	SNP	ENST00000316694.3	37	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358154	0.95854	.	.	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	.	.	.	5.65	2.56	0.30785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.1151	10.6693	0.45749	0.2692:0.0:0.7308:0.0	.	.	.	.	X	205;205;67;205;205	.	ENSP00000318868:Y205X	Y	-	3	2	SHMT1	18184281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.886000	0.28241	0.861000	0.35504	0.655000	0.94253	TAC		0.577	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		T	18243556	G	T	18243556	4	4	493	1	0	0	0	0	0	1	0	0	14291	1024	36	4	860	4	SHMT1	17	18243556	Nonsense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10		18243556	62951654	37	26640											
RPL19	6143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37357533	37357533	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr17:37357533G>C	ENST00000225430.4	+	2	135	c.73G>C	c.(73-75)Gac>Cac	p.D25H	RPL19_ENST00000579374.1_Missense_Mutation_p.D22H|RPL19_ENST00000582193.1_Missense_Mutation_p.D23H|RPL19_ENST00000579260.1_Missense_Mutation_p.D23H	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	25					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.D25H(1)		kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						GGTCTGGTTAGACCCCAATGA	0.483																																																1	Substitution - Missense(1)	kidney(1)											89	87	88					17																	37357533		1910	4129	6039	SO:0001583	missense	6143				CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"L ribosomal proteins"	10312	protein-coding gene	gene with protein product	"60S ribosomal protein L19", "ribosomal protein L19, cytosolic, N-terminus truncated"	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.73G>C	17.37:g.37357533G>C	ENSP00000225430:p.Asp25His		B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	ENST00000225430.4	37	CCDS42312.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.599380	0.87055	.	.	ENSG00000108298	ENST00000225430	.	.	.	4.7	4.7	0.59300	Ribosomal protein L19/L19e conserved site (1);Ribosomal protein L19/L19e (2);Ribosomal protein L19/L19e, domain 1 (1);	0.063077	0.64402	N	0.000013	D	0.87641	0.6228	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.92105	0.5691	9	0.87932	D	0	.	17.6176	0.88072	0.0:0.0:1.0:0.0	.	25	P84098	RL19_HUMAN	H	25	.	ENSP00000225430:D25H	D	+	1	0	RPL19	34611059	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	9.465000	0.97660	2.169000	0.68431	0.313000	0.20887	GAC		0.483	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	NM_000981		C	37357533	G	C	37357533	3	2	493	1	0	0	0	0	1	0	0	0	13572	942	33	4	79	4	RPL19	17	37357533	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	19113977	37357533	43837677	38	26641											
TRIM25	7706	broad.mit.edu;ucsc.edu	37	17	54981679	54981679	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr17:54981679G>C	ENST00000316881.4	-	3	913	c.864C>G	c.(862-864)atC>atG	p.I288M	TRIM25_ENST00000537230.1_Missense_Mutation_p.I288M	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	288	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I288M(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TCAAGGTCTGGATCTCACTCT	0.453																																																1	Substitution - Missense(1)	kidney(1)											236	219	225					17																	54981679		2203	4300	6503	SO:0001583	missense	7706			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.864C>G	17.37:g.54981679G>C	ENSP00000323889:p.Ile288Met			Missense_Mutation	SNP	ENST00000316881.4	37	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	G	6.340	0.430880	0.12045	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.47177	0.85;0.85	5.76	-0.0428	0.13862	.	0.178176	0.39687	N	0.001285	T	0.29223	0.0727	L	0.33485	1.01	0.28183	N	0.928063	B	0.27951	0.195	B	0.27076	0.076	T	0.12142	-1.0559	10	0.26408	T	0.33	.	6.4071	0.21670	0.2289:0.4101:0.361:0.0	.	288	Q14258	TRI25_HUMAN	M	288	ENSP00000323889:I288M;ENSP00000445961:I288M	ENSP00000323889:I288M	I	-	3	3	TRIM25	52336678	1.000000	0.71417	0.999000	0.59377	0.870000	0.49936	0.827000	0.27421	0.417000	0.25871	-0.136000	0.14681	ATC		0.453	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		C	54981679	G	C	54981679	3	2	493	1	0	0	0	0	1	0	0	0	16504	1164	41	4	1056	4	TRIM25	17	54981679	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	17624146	54981679	26213531	39	26642											
DSC2	1824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	28651750	28651750	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr18:28651750G>A	ENST00000280904.6	-	13	2389	c.1946C>T	c.(1945-1947)cCt>cTt	p.P649L	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Missense_Mutation_p.P649L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	649	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P649L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CACTGTTATAGGTACTACATA	0.373																																																2	Substitution - Missense(2)	kidney(2)											113	96	101					18																	28651750		2203	4300	6503	SO:0001583	missense	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1946C>T	18.37:g.28651750G>A	ENSP00000280904:p.Pro649Leu			Missense_Mutation	SNP	ENST00000280904.6	37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595717	0.66219	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.60171	0.21;0.21	6.02	5.15	0.70609	Cadherin (2);Cadherin-like (1);	0.267169	0.20056	N	0.100184	T	0.68375	0.2994	M	0.78637	2.42	0.48571	D	0.999672	P;P	0.50528	0.894;0.936	P;P	0.51615	0.476;0.675	T	0.72818	-0.4178	10	0.87932	D	0	.	12.1474	0.54031	0.1368:0.0:0.8632:0.0	.	649;649	Q02487;Q02487-2	DSC2_HUMAN;.	L	649;649;415;662	ENSP00000251081:P649L;ENSP00000280904:P649L	ENSP00000251081:P649L	P	-	2	0	DSC2	26905748	0.995000	0.38212	0.017000	0.16124	0.004000	0.04260	2.451000	0.44952	1.538000	0.49270	0.650000	0.86243	CCT		0.373	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		A	28651750	G	A	28651750	3	1	493	1	0	0	0	0	1	0	0	0	4768	1000	35	2	815	2	DSC2	18	28651750	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10		28651750	49425498	40	26643											
DSG1	1828	broad.mit.edu;ucsc.edu	37	18	28908167	28908167	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr18:28908167G>T	ENST00000257192.4	+	4	444	c.232G>T	c.(232-234)Gct>Tct	p.A78S		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.A78S(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTCAGATTGTGCTGCAAACCA	0.373																																																1	Substitution - Missense(1)	kidney(1)											85	83	84					18																	28908167		2203	4299	6502	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.232G>T	18.37:g.28908167G>T	ENSP00000257192:p.Ala78Ser		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706413	0.68615	.	.	ENSG00000134760	ENST00000257192	T	0.52295	0.67	5.59	4.67	0.58626	Cadherin (4);Cadherin-like (1);	0.218952	0.32608	N	0.005879	T	0.40119	0.1104	N	0.17674	0.51	0.80722	D	1	B	0.25719	0.132	B	0.36378	0.223	T	0.36672	-0.9738	10	0.49607	T	0.09	.	15.2721	0.73712	0.0:0.0:0.8591:0.1409	.	78	Q02413	DSG1_HUMAN	S	78	ENSP00000257192:A78S	ENSP00000257192:A78S	A	+	1	0	DSG1	27162165	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.753000	0.68736	2.635000	0.89317	0.563000	0.77884	GCT		0.373	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		T	28908167	G	T	28908167	3	4	493	1	0	0	0	0	1	0	0	0	4778	1319	46	4	246	4	DSG1	18	28908167	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	256417	28908167	49169081	41	26644											
CALR	811	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	13051666	13051666	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr19:13051666G>T	ENST00000316448.5	+	7	998	c.925G>T	c.(925-927)Gat>Tat	p.D309Y		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	309	C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.D309Y(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	CTATGCCTATGATAACTTTGG	0.532																																																1	Substitution - Missense(1)	kidney(1)											116	114	114					19																	13051666		2203	4300	6503	SO:0001583	missense	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.925G>T	19.37:g.13051666G>T	ENSP00000320866:p.Asp309Tyr		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	37	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.877012	0.33162	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	T	0.51325	0.71	5.27	3.02	0.34903	.	0.049550	0.85682	D	0.000000	T	0.60340	0.2261	M	0.65320	2	0.80722	D	1	D	0.55800	0.973	P	0.59115	0.852	T	0.61436	-0.7063	10	0.49607	T	0.09	-21.1217	14.2346	0.65916	0.0:0.2857:0.7143:0.0	.	309	P27797	CALR_HUMAN	Y	309;188	ENSP00000320866:D309Y	ENSP00000320866:D309Y	D	+	1	0	CALR	12912666	1.000000	0.71417	0.018000	0.16275	0.046000	0.14306	5.492000	0.66893	0.536000	0.28733	0.557000	0.71058	GAT		0.532	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		T	13051666	G	T	13051666	3	4	493	1	0	0	0	0	1	0	0	0	2594	1290	45	4	951	4	CALR	19	13051666	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10		13051666	46077317	42	26645											
JAK3	3718	broad.mit.edu;ucsc.edu	37	19	17954627	17954627	+	Silent	SNP	G	G	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr19:17954627G>T	ENST00000527670.1	-	2	296	c.267C>A	c.(265-267)tcC>tcA	p.S89S	JAK3_ENST00000458235.1_Silent_p.S89S|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Silent_p.S89S			P52333	JAK3_HUMAN	Janus kinase 3	89	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.S89S(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CATCCTCCACGGAGAAGATGT	0.582		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	2	Substitution - coding silent(2)	kidney(2)											55	57	56					19																	17954627		2203	4300	6503	SO:0001819	synonymous_variant	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.267C>A	19.37:g.17954627G>T			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	CCDS12366.1																																																																																				0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		T	17954627	G	T	17954627	2	4	493	1	0	0	0	0	0	0	0	1	7941	1103	39	4		4	JAK3	19	17954627	Silent	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	4902961	17954627	41174356	43	26646											
ZNF714	148206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	21299645	21299645	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr19:21299645C>A	ENST00000596143.1	+	5	500	c.175C>A	c.(175-177)Cca>Aca	p.P59T	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_Missense_Mutation_p.A65D|ZNF714_ENST00000291770.7_Silent_p.G51G	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P59T(1)|p.P164T(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AGACCTTTGGCCAGAGCAAGA	0.333																																																2	Substitution - Missense(2)	kidney(2)											58	58	58					19																	21299645		2183	4295	6478	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.175C>A	19.37:g.21299645C>A	ENSP00000472368:p.Pro59Thr		Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	9.142	1.014098	0.19277	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.601	0.601	0.17529	.	.	.	.	.	T	0.47857	0.1468	L	0.42487	1.325	0.22142	N	0.999333	D;P	0.63046	0.992;0.931	P;B	0.59948	0.866;0.376	T	0.32188	-0.9916	7	0.66056	D	0.02	.	.	.	.	.	59;59	Q96N38-2;A6NEM4	.;.	T	59	.	ENSP00000291770:P59T	P	+	1	0	ZNF714	21091485	0.321000	0.24625	0.015000	0.15790	0.060000	0.15804	1.561000	0.36342	0.602000	0.29896	0.456000	0.33151	CCA		0.333	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		A	21299645	C	A	21299645	3	1	493	1	0	0	0	0	1	0	0	0	18123	739	26	4	185	4	ZNF714	19	21299645	Missense_Mutation	SNP	C	TCGA-CJ-4640-01A-02D-1386-10	3345018	21299645	37829338	44	26647											
IL28A	282616	broad.mit.edu	37	19	39759493	39759493	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr19:39759493G>T	ENST00000331982.5	+	2	242	c.187G>T	c.(187-189)Gcc>Tcc	p.A63S		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	63					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.A63S(1)									GGCCAAAGATGCCTTAGTGAG	0.612																																																1	Substitution - Missense(1)	kidney(1)											26	29	28					19																	39759493		2203	4298	6501	SO:0001583	missense	0			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.187G>T	19.37:g.39759493G>T	ENSP00000333639:p.Ala63Ser		Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	ENST00000331982.5	37	CCDS42567.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764231	0.31228	.	.	ENSG00000183709	ENST00000331982	T	0.34472	1.36	3.25	-0.174	0.13319	.	1.328460	0.05051	N	0.478222	T	0.43144	0.1234	M	0.74647	2.275	0.09310	N	1	P	0.35192	0.489	B	0.41299	0.353	T	0.45454	-0.9260	10	0.62326	D	0.03	-0.548	5.3042	0.15795	0.4105:0.0:0.5895:0.0	.	63	Q8IZJ0	IL28A_HUMAN	S	63	ENSP00000333639:A63S	ENSP00000333639:A63S	A	+	1	0	IL28A	44451333	0.001000	0.12720	0.110000	0.21437	0.745000	0.42441	0.078000	0.14761	0.214000	0.20742	0.430000	0.28490	GCC		0.612	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		T	39759493	G	T	39759493	3	4	493	1	0	0	0	0	1	0	0	0	7684	1319	46	4	193	4	IL28A	19	39759493	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	18459848	39759493	19369490	45	26648											
NAPSA	9476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50862276	50862276	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr19:50862276C>T	ENST00000253719.2	-	8	1235	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	343					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)	p.V343I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		ACCTGGATGACGTAATCATGG	0.557																																																1	Substitution - Missense(1)	kidney(1)											94	91	92					19																	50862276		2203	4300	6503	SO:0001583	missense	9476			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1027G>A	19.37:g.50862276C>T	ENSP00000253719:p.Val343Ile		Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258115	0.23051	.	.	ENSG00000131400	ENST00000253719	T	0.59638	0.25	3.48	3.48	0.39840	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.268585	0.35870	N	0.002932	T	0.54287	0.1849	N	0.21282	0.65	0.44221	D	0.997051	D	0.76494	0.999	D	0.81914	0.995	T	0.50311	-0.8843	10	0.11794	T	0.64	.	7.083	0.25241	0.0:0.867:0.0:0.133	.	343	O96009	NAPSA_HUMAN	I	343	ENSP00000253719:V343I	ENSP00000253719:V343I	V	-	1	0	NAPSA	55554088	0.954000	0.32549	1.000000	0.80357	0.265000	0.26407	1.492000	0.35594	1.649000	0.50652	0.313000	0.20887	GTC		0.557	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		T	50862276	C	T	50862276	3	4	493	1	0	0	0	0	1	0	0	0	10168	536	19	1	243	1	NAPSA	19	50862276	Missense_Mutation	SNP	C	TCGA-CJ-4640-01A-02D-1386-10	11102783	50862276	8266707	46	26649											
SIGLEC8	27181	broad.mit.edu;ucsc.edu	37	19	51961425	51961425	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr19:51961425G>T	ENST00000321424.3	-	1	283	c.217C>A	c.(217-219)Cca>Aca	p.P73T	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P73T|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P73T	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	73	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.P73T(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTTGGTATGGTCTGTCTCCT	0.587																																																1	Substitution - Missense(1)	kidney(1)											154	131	139					19																	51961425		2203	4300	6503	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.217C>A	19.37:g.51961425G>T	ENSP00000321077:p.Pro73Thr		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.318887	0.00232	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.64085	-0.08;-0.08;-0.08	2.04	-2.37	0.06643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	3.022220	0.01975	N	0.044434	T	0.29588	0.0738	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.17722	0.015;0.002;0.019	T	0.40117	-0.9580	10	0.02654	T	1	.	3.7485	0.08558	0.0:0.2024:0.4819:0.3157	.	73;73;73	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	T	73	ENSP00000389142:P73T;ENSP00000321077:P73T;ENSP00000339448:P73T	ENSP00000321077:P73T	P	-	1	0	SIGLEC8	56653237	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.449000	0.00232	-0.664000	0.05324	-0.604000	0.04097	CCA		0.587	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		T	51961425	G	T	51961425	3	4	493	1	0	0	0	0	1	0	0	0	14320	1261	44	4	1310	4	SIGLEC8	19	51961425	Missense_Mutation	SNP	G	TCGA-CJ-4640-01A-02D-1386-10	1099149	51961425	7167558	47	26650											
ZNF132	7691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58945135	58945135	+	Missense_Mutation	SNP	A	A	T	rs185952330		TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr19:58945135A>T	ENST00000254166.3	-	3	2076	c.1676T>A	c.(1675-1677)aTt>aAt	p.I559N	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I559N(2)		NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCAGTGTTCAATGAGAGTGGA	0.448																																																2	Substitution - Missense(2)	kidney(1)|skin(1)											89	89	89					19																	58945135		2203	4300	6503	SO:0001583	missense	7691			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1676T>A	19.37:g.58945135A>T	ENSP00000254166:p.Ile559Asn		Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351167	0.41700	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.07216	3.21	3.69	-2.92	0.05615	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03390	0.0098	N	0.16903	0.455	0.09310	N	1	B	0.25850	0.136	B	0.20577	0.03	T	0.45396	-0.9264	9	0.18710	T	0.47	.	1.2864	0.02052	0.3244:0.2649:0.2804:0.1303	.	559	P52740	ZN132_HUMAN	N	559;274	ENSP00000254166:I559N	ENSP00000254166:I559N	I	-	2	0	ZNF132	63636947	0.000000	0.05858	0.006000	0.13384	0.957000	0.61999	-0.874000	0.04210	-0.286000	0.09076	0.533000	0.62120	ATT		0.448	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		T	58945135	A	T	58945135	3	4	493	1	0	0	0	0	1	0	0	0	17727	101	4	5	448	5	ZNF132	19	58945135	Missense_Mutation	SNP	A	TCGA-CJ-4640-01A-02D-1386-10	6983710	58945135	183848	48	26651											
DIDO1	11083	hgsc.bcm.edu	37	20	61513427	61513438	+	In_Frame_Del	DEL	GCTGCTGTTGTG	GCTGCTGTTGTG	-	rs374696200|rs141398076|rs199561380	byFrequency	TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	GCTGCTGTTGTG	GCTGCTGTTGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr20:61513427_61513438delGCTGCTGTTGTG	ENST00000266070.4	-	16	4195_4206	c.3870_3881delCACAACAGCAGC	c.(3868-3882)gccacaacagcagcg>gcg	p.1290_1294ATTAA>A	DIDO1_ENST00000395343.1_In_Frame_Del_p.1290_1294ATTAA>A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1290					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGAGGCTGCCGCTGCTGTTGTGGCTGCTGTGG	0.608														13	0.00259585	0.0	0.0014	5008	,	,		16798	0.0		0.006	False		,,,				2504	0.0061				Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0									,	4,4242		0,4,2119					,	-7.5	0			71	31,8193		0,31,4081	no	coding,coding	DIDO1	NM_033081.2,NM_001193369.1	,	0,35,6200	A1A1,A1R,RR		0.3769,0.0942,0.2807	,	,		35,12435				SO:0001651	inframe_deletion	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3870_3881delCACAACAGCAGC	20.37:g.61513427_61513438delGCTGCTGTTGTG	ENSP00000266070:p.Ala1290_Ala1293del		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	In_Frame_Del	DEL	ENST00000266070.4	37	CCDS33506.1																																																																																				0.608	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		-	61513438	GCTGCTGTTGTG	-	61513427	7	5	493	1	0	1	0	1	0	0	0	0	4524	1087	38	0	2845	0	DIDO1	20	61513427	In_Frame_Del	DEL	GCTGCTGTTGTG	TCGA-CJ-4640-01A-02D-1386-10		61513427	1512093	49	26652											
ENTHD1	150350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40231926	40231926	+	Silent	SNP	G	G	A			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chr22:40231926G>A	ENST00000325157.6	-	4	880	c.630C>T	c.(628-630)tgC>tgT	p.C210C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	210								p.C210C(2)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GAACATCTTGGCAATGCTCTT	0.358																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											284	260	268					22																	40231926		2203	4300	6503	SO:0001819	synonymous_variant	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.630C>T	22.37:g.40231926G>A			B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	ENST00000325157.6	37	CCDS13998.1																																																																																				0.358	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		A	40231926	G	A	40231926	2	1	493	1	0	0	0	0	0	0	0	1	5139	1195	42	2		2	ENTHD1	22	40231926	Silent	SNP	G	TCGA-CJ-4640-01A-02D-1386-10		40231926	11072640	50	26653											
KLHL34	257240	broad.mit.edu	37	X	21674384	21674384	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4640-01A-02D-1386-10	TCGA-CJ-4640-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e406036a-eecb-474e-8c76-0fa8b64225be	60836f30-bbab-459c-8b8d-a12902fbcf4e	g.chrX:21674384delT	ENST00000379499.2	-	1	2064	c.1523delA	c.(1522-1524)aagfs	p.K509fs		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	509						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GGGTGCCTTCTTGCTCCAAAC	0.632																																																0													39	23	28					X																	21674384		2203	4299	6502	SO:0001589	frameshift_variant	257240			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1523delA	X.37:g.21674384delT	ENSP00000368813:p.Lys509fs			Frame_Shift_Del	DEL	ENST00000379499.2	37	CCDS14199.1																																																																																				0.632	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		-	21674384	T	-	21674384	7	5	493	1	0	1	0	1	0	0	0	0	8389	1609	56	0	415	0	KLHL34	23	21674384	Frame_Shift_Del	DEL	T	TCGA-CJ-4640-01A-02D-1386-10		21674384	133596176	51	26654											
TMCO2	127391	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40713786	40713786	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr1:40713786T>A	ENST00000372766.3	+	1	214	c.121T>A	c.(121-123)Ttg>Atg	p.L41M	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	41						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L41M(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GCAAACAAGTTTGGGACTATT	0.403																																																1	Substitution - Missense(1)	kidney(1)											191	192	191					1																	40713786		2203	4300	6503	SO:0001583	missense	127391			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.121T>A	1.37:g.40713786T>A	ENSP00000361852:p.Leu41Met			Missense_Mutation	SNP	ENST00000372766.3	37	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304010	0.23736	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.34	1.71	0.24356	.	0.633028	0.13288	N	0.399182	T	0.35335	0.0928	L	0.29908	0.895	0.09310	N	1	P	0.52061	0.95	P	0.53809	0.735	T	0.14868	-1.0457	9	0.87932	D	0	0.314	6.6953	0.23195	0.0:0.2944:0.0:0.7056	.	41	Q7Z6W1	TMCO2_HUMAN	M	41	.	ENSP00000361852:L41M	L	+	1	2	TMCO2	40486373	0.696000	0.27757	0.653000	0.29593	0.001000	0.01503	0.457000	0.21875	0.137000	0.18759	-0.417000	0.06048	TTG		0.403	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		A	40713786	T	A	40713786	3	1	494	1	0	0	0	0	1	0	0	0	16001	1838	64	5	123	5	TMCO2	1	40713786	Missense_Mutation	SNP	T	TCGA-CJ-4641-01A-02D-1386-10		40713786	208536835	1	26655											
MAST2	23139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46497886	46497886	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr1:46497886C>T	ENST00000361297.2	+	25	3507	c.3224C>T	c.(3223-3225)tCc>tTc	p.S1075F	MAST2_ENST00000372009.2_Missense_Mutation_p.S1005F	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.S1075F(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGCCCCATGTCCCCACATTCT	0.602																																																1	Substitution - Missense(1)	kidney(1)											79	86	84					1																	46497886		2027	4191	6218	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3224C>T	1.37:g.46497886C>T	ENSP00000354671:p.Ser1075Phe			Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765138	0.90020	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.73789	-0.78;-0.28	4.76	4.76	0.60689	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.89753	0.3941	10	0.87932	D	0	-17.7103	18.3314	0.90270	0.0:1.0:0.0:0.0	.	1005;1075	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	F	1075;1005	ENSP00000354671:S1075F;ENSP00000361079:S1005F	ENSP00000354671:S1075F	S	+	2	0	MAST2	46270473	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.609000	0.82925	2.622000	0.88805	0.561000	0.74099	TCC		0.602	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		T	46497886	C	T	46497886	3	4	494	1	0	0	0	0	1	0	0	0	9327	855	30	2	3322	2	MAST2	1	46497886	Missense_Mutation	SNP	C	TCGA-CJ-4641-01A-02D-1386-10	5784100	46497886	202752735	2	26656											
FLG	2312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152279668	152279668	+	Missense_Mutation	SNP	G	G	T	rs182787187	byFrequency	TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr1:152279668G>T	ENST00000368799.1	-	3	7729	c.7694C>A	c.(7693-7695)tCc>tAc	p.S2565Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2565	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S2565Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAAAACTGGATCCCCAGTT	0.582									Ichthyosis																																							1	Substitution - Missense(1)	kidney(1)											183	195	191					1																	152279668		2201	4300	6501	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7694C>A	1.37:g.152279668G>T	ENSP00000357789:p.Ser2565Tyr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318041	0.23994	.	.	ENSG00000143631	ENST00000368799	T	0.09073	3.02	3.61	-1.31	0.09230	.	.	.	.	.	T	0.09730	0.0239	M	0.80982	2.52	0.09310	N	1	D	0.59357	0.985	P	0.61003	0.882	T	0.05338	-1.0891	9	0.56958	D	0.05	.	4.6943	0.12795	0.2169:0.3381:0.445:0.0	.	2565	P20930	FILA_HUMAN	Y	2565	ENSP00000357789:S2565Y	ENSP00000357789:S2565Y	S	-	2	0	FLG	150546292	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.277000	0.18734	-0.589000	0.05874	0.306000	0.20318	TCC		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152279668	G	T	152279668	3	4	494	1	0	0	0	0	1	0	0	0	5924	1174	41	4	4495	4	FLG	1	152279668	Missense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10	105781782	152279668	96970953	3	26657											
SPTA1	6708	broad.mit.edu;ucsc.edu	37	1	158609798	158609798	+	Splice_Site	SNP	C	C	G			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr1:158609798C>G	ENST00000368147.4	-	34	4918		c.e34-1			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.?(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGTTGCTCCTAACCCAAGG	0.478																																																1	Unknown(1)	kidney(1)											153	137	142					1																	158609798		1931	4139	6070	SO:0001630	splice_region_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4738-1G>C	1.37:g.158609798C>G			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730749	0.48939	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3266	0.82986	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156876422	1.000000	0.71417	0.255000	0.24374	0.020000	0.10135	6.089000	0.71384	2.882000	0.98803	0.655000	0.94253	.		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	G	158609798	C	G	158609798	5	3	494	1	0	0	0	0	0	0	1	0	15121	695	24	4	2598	4	SPTA1	1	158609798	Splice_Site	SNP	C	TCGA-CJ-4641-01A-02D-1386-10	6330130	158609798	90640823	4	26658											
PIGR	5284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207110826	207110826	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr1:207110826C>A	ENST00000356495.4	-	4	842	c.659G>T	c.(658-660)tGc>tTc	p.C220F		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	220	Ig-like V-type 2.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.C220F(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCAGCCTGGCAGAGATACTG	0.502																																																1	Substitution - Missense(1)	kidney(1)											64	62	63					1																	207110826		2203	4300	6503	SO:0001583	missense	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.659G>T	1.37:g.207110826C>A	ENSP00000348888:p.Cys220Phe		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909642	0.72868	.	.	ENSG00000162896	ENST00000356495	T	0.35048	1.33	5.79	5.79	0.91817	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.159402	0.46145	D	0.000307	T	0.61874	0.2382	M	0.79614	2.46	0.52501	D	0.999957	D	0.89917	1.0	D	0.80764	0.994	T	0.64761	-0.6331	10	0.87932	D	0	-15.8995	15.5321	0.75970	0.0:1.0:0.0:0.0	.	220	P01833	PIGR_HUMAN	F	220	ENSP00000348888:C220F	ENSP00000348888:C220F	C	-	2	0	PIGR	205177449	0.998000	0.40836	0.811000	0.32455	0.015000	0.08874	3.900000	0.56295	2.743000	0.94032	0.655000	0.94253	TGC		0.502	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		A	207110826	C	A	207110826	3	1	494	1	0	0	0	0	1	0	0	0	11899	710	25	4	1667	4	PIGR	1	207110826	Missense_Mutation	SNP	C	TCGA-CJ-4641-01A-02D-1386-10	48501028	207110826	42139795	5	26659											
CR1	1378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207758216	207758216	+	Missense_Mutation	SNP	G	G	A	rs200621891		TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr1:207758216G>A	ENST00000367049.4	+	33	5525	c.5525G>A	c.(5524-5526)cGt>cAt	p.R1842H	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.R1392H|CR1_ENST00000367051.1_Missense_Mutation_p.R1392H|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R1392H|CR1_ENST00000367052.1_Missense_Mutation_p.R1392H	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1392	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1397H(3)|p.R1842H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTCTGTTCGTGCTGGTCAG	0.488																																																5	Substitution - Missense(5)	lung(2)|kidney(2)|large_intestine(1)						A	HIS/ARG,HIS/ARG	0,3914		0,0,1957	107	107	107		4175,5525	-4	0	1		107	1,8299		0,1,4149	no	missense,missense	CR1	NM_000573.3,NM_000651.4	29,29	0,1,6106	AA,AG,GG		0.012,0.0,0.0082	benign,benign	1392/2040,1842/2490	207758216	1,12213	1957	4150	6107	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5525G>A	1.37:g.207758216G>A	ENSP00000356016:p.Arg1842His		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	g	2.643	-0.283651	0.05642	0.0	1.2E-4	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.33654	1.4;1.52;1.4;1.4;1.54;1.4	3.03	-3.96	0.04106	.	.	.	.	.	T	0.28300	0.0699	N	0.19112	0.55	0.09310	N	1	D;D;B	0.76494	0.999;0.996;0.013	D;P;B	0.66602	0.945;0.504;0.003	T	0.14090	-1.0485	9	0.15066	T	0.55	.	0.1311	0.00074	0.2976:0.2403:0.1519:0.3102	.	1392;1392;1842	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	H	1392;1392;1392;1392;942;1842	ENSP00000356019:R1392H;ENSP00000356018:R1392H;ENSP00000356020:R1392H;ENSP00000383744:R1392H;ENSP00000436139:R942H;ENSP00000356016:R1842H	ENSP00000356016:R1842H	R	+	2	0	CR1	205824839	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-0.184000	0.09698	-1.009000	0.03400	-1.770000	0.00663	CGT		0.488	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		A	207758216	G	A	207758216	3	1	494	1	0	0	0	0	1	0	0	0	3842	1145	40	1	5655	1	CR1	1	207758216	Missense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10	647390	207758216	41492405	6	26660											
PLB1	151056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	28752601	28752601	+	Silent	SNP	G	G	A			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr2:28752601G>A	ENST00000327757.5	+	8	467	c.423G>A	c.(421-423)ttG>ttA	p.L141L	PLB1_ENST00000422425.2_Silent_p.L141L	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	141	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.L141L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACAGAGACTTGTGGATTCAGG	0.498																																																2	Substitution - coding silent(2)	kidney(2)											106	99	101					2																	28752601		2203	4300	6503	SO:0001819	synonymous_variant	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.423G>A	2.37:g.28752601G>A			A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	2.802	-0.248939	0.05867	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.87	-0.107	0.13592	.	.	.	.	.	T	0.34019	0.0883	.	.	.	0.21416	N	0.999694	.	.	.	.	.	.	T	0.30592	-0.9973	4	.	.	.	-18.7646	9.1216	0.36791	0.4641:0.0:0.5359:0.0	.	.	.	.	Y	140	.	.	C	+	2	0	PLB1	28606105	0.556000	0.26538	0.002000	0.10522	0.027000	0.11550	0.251000	0.18257	-0.069000	0.12931	-0.140000	0.14226	TGT		0.498	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			A	28752601	G	A	28752601	2	1	494	1	0	0	0	0	0	0	0	1	12026	1368	48	2		2	PLB1	2	28752601	Silent	SNP	G	TCGA-CJ-4641-01A-02D-1386-10		28752601	214446772	7	26661											
XPO1	7514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61749804	61749804	+	Missense_Mutation	SNP	T	T	A	rs76607520		TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr2:61749804T>A	ENST00000401558.2	-	4	970	c.243A>T	c.(241-243)caA>caT	p.Q81H	XPO1_ENST00000404992.2_Missense_Mutation_p.Q81H|XPO1_ENST00000406957.1_Missense_Mutation_p.Q81H	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	81	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.|Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.Q81H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTTCCAAAATTTGTAGTCCAT	0.348			Mis		CLL																																	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	1	Substitution - Missense(1)	kidney(1)											64	62	63					2																	61749804		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.243A>T	2.37:g.61749804T>A	ENSP00000384863:p.Gln81His		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939439	0.52972	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957;ENST00000451765;ENST00000443240;ENST00000420673;ENST00000422552;ENST00000457483	T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.29;-0.29;-0.29;-0.29	5.46	0.312	0.15837	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	M	0.76838	2.35	0.53688	D	0.99997	P	0.47545	0.897	P	0.49226	0.603	T	0.69540	-0.5118	10	0.54805	T	0.06	-11.3942	10.4266	0.44383	0.0:0.4391:0.0:0.5609	.	81	O14980	XPO1_HUMAN	H	81	ENSP00000384863:Q81H;ENSP00000385942:Q81H;ENSP00000385559:Q81H;ENSP00000413853:Q81H;ENSP00000406428:Q81H;ENSP00000393484:Q81H;ENSP00000408190:Q81H;ENSP00000394951:Q81H	ENSP00000384863:Q81H	Q	-	3	2	XPO1	61603308	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.016000	0.29976	-0.178000	0.10672	0.455000	0.32223	CAA		0.348	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		A	61749804	T	A	61749804	3	1	494	1	0	0	0	0	1	0	0	0	17450	1838	64	5	3060	5	XPO1	2	61749804	Missense_Mutation	SNP	T	TCGA-CJ-4641-01A-02D-1386-10	32997203	61749804	181449569	8	26662											
DPP10	57628	hgsc.bcm.edu;ucsc.edu	37	2	116101463	116101463	+	Missense_Mutation	SNP	C	C	G	rs143448690	byFrequency	TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr2:116101463C>G	ENST00000410059.1	+	3	726	c.246C>G	c.(244-246)caC>caG	p.H82Q	DPP10_ENST00000393147.2_Missense_Mutation_p.H86Q|DPP10_ENST00000310323.8_Missense_Mutation_p.H75Q|DPP10_ENST00000409163.1_Missense_Mutation_p.H32Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	82						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGTGCTTCACGATCCAGAGG	0.333																																																0													86	88	87					2																	116101463		2203	4300	6503	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.246C>G	2.37:g.116101463C>G	ENSP00000386565:p.His82Gln		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191142	0.58017	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.97	0.861	0.19048	.	0.060067	0.64402	D	0.000003	T	0.56920	0.2018	M	0.62723	1.935	0.39874	D	0.973542	D;D;D;D	0.76494	0.986;0.999;0.991;0.976	P;D;P;P	0.76575	0.758;0.988;0.751;0.577	T	0.53380	-0.8447	10	0.25106	T	0.35	-16.7035	7.4259	0.27098	0.0:0.3484:0.0:0.6516	.	75;86;78;82	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	Q	32;82;32;78;86;75;32;32	ENSP00000391092:H32Q;ENSP00000386565:H82Q;ENSP00000387038:H32Q;ENSP00000376854:H78Q;ENSP00000376855:H86Q;ENSP00000309066:H75Q;ENSP00000402499:H32Q	ENSP00000309066:H75Q	H	+	3	2	DPP10	115817933	0.998000	0.40836	0.998000	0.56505	0.970000	0.65996	0.122000	0.15687	0.169000	0.19679	-0.438000	0.05819	CAC		0.333	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		G	116101463	C	G	116101463	3	3	494	1	0	0	0	0	1	0	0	0	4729	535	19	4	427	4	DPP10	2	116101463	Missense_Mutation	SNP	C	TCGA-CJ-4641-01A-02D-1386-10	54351659	116101463	127097910	9	26663											
DNAH7	56171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	196620981	196620981	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr2:196620981T>G	ENST00000312428.6	-	62	11562	c.11462A>C	c.(11461-11463)gAa>gCa	p.E3821A	DNAH7_ENST00000409063.1_Missense_Mutation_p.E304A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3821					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.E3821A(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AACCACTTCTTCAAGATCTGT	0.363																																																1	Substitution - Missense(1)	kidney(1)											115	106	109					2																	196620981		1837	4092	5929	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11462A>C	2.37:g.196620981T>G	ENSP00000311273:p.Glu3821Ala		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738749	0.89573	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.11169	2.8;2.8	5.23	5.23	0.72850	Dynein heavy chain (1);	0.188120	0.45606	D	0.000351	T	0.47801	0.1465	H	0.98542	4.26	0.80722	D	1	P	0.46656	0.882	P	0.59288	0.855	T	0.67381	-0.5685	10	0.87932	D	0	.	14.9369	0.70964	0.0:0.0:0.0:1.0	.	3821	Q8WXX0	DYH7_HUMAN	A	3821;304	ENSP00000311273:E3821A;ENSP00000386912:E304A	ENSP00000311273:E3821A	E	-	2	0	DNAH7	196329226	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.351000	0.79395	2.193000	0.70182	0.528000	0.53228	GAA		0.363	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		G	196620981	T	G	196620981	3	3	494	1	0	0	0	0	1	0	0	0	4608	1783	62	5	628	5	DNAH7	2	196620981	Missense_Mutation	SNP	T	TCGA-CJ-4641-01A-02D-1386-10	80519518	196620981	46578392	10	26664											
TMEM111	55831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10005828	10005828	+	Silent	SNP	G	G	A	rs113658691	byFrequency	TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr3:10005828G>A	ENST00000245046.2	-	8	1169	c.711C>T	c.(709-711)gtC>gtT	p.V237V	RP11-1020A11.2_ENST00000602436.1_RNA	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	237						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.V237V(1)									GCTCTTCTTCGACATCATCTA	0.478													g|||	2	0.000399361	0.0015	0.0	5008	,	,		20028	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	130	119	123		711	-5.3	1	3	dbSNP_132	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM111	NM_018447.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		237/262	10005828	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"transmembrane protein 111"	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.711C>T	3.37:g.10005828G>A			B2R4Z9|Q53GH8|Q6ZMC2	Silent	SNP	ENST00000245046.2	37	CCDS2594.1																																																																																				0.478	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250532.1	NM_018447		A	10005828	G	A	10005828	2	1	494	1	0	0	0	0	0	0	0	1	16033	1045	37	1		1	TMEM111	3	10005828	Silent	SNP	G	TCGA-CJ-4641-01A-02D-1386-10		10005828	188016602	11	26665											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52441304	52441304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr3:52441304G>A	ENST00000460680.1	-	7	937	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q156*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q156*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGGCCATTCTGCTTCTCAGGG	0.577			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Nonsense(1)	kidney(1)											79	81	80					3																	52441304		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.466C>T	3.37:g.52441304G>A	ENSP00000417132:p.Gln156*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	40	8.080308	0.98643	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-6.3818	20.3927	0.98949	0.0:0.0:1.0:0.0	.	.	.	.	X	156;156;77	.	ENSP00000296288:Q156X	Q	-	1	0	BAP1	52416344	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.824000	0.99380	2.833000	0.97629	0.655000	0.94253	CAG		0.577	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52441304	G	A	52441304	4	1	494	1	0	0	0	0	0	1	0	0	1311	1328	46	2	1767	2	BAP1	3	52441304	Nonsense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10	42435476	52441304	145581126	12	26666											
FAT1	2195	broad.mit.edu	37	4	187521052	187521052	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr4:187521052C>T	ENST00000441802.2	-	22	12312	c.12103G>A	c.(12103-12105)Ggt>Agt	p.G4035S	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4035	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4038S(1)|p.G4035S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGAGCCCACCTCCAGCAGGT	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											2	Substitution - Missense(2)	kidney(2)											38	39	39					4																	187521052		1956	4133	6089	SO:0001630	splice_region_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12103+1G>A	4.37:g.187521052C>T				Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164803	0.78339	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	D	0.87256	-2.23	4.89	4.89	0.63831	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	L	0.42581	1.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89559	0.3805	9	.	.	.	.	18.5924	0.91218	0.0:1.0:0.0:0.0	.	4035	Q14517	FAT1_HUMAN	S	4035;4037	ENSP00000406229:G4035S	.	G	-	1	0	FAT1	187758046	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	6.997000	0.76270	2.696000	0.92011	0.655000	0.94253	GGT		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	Missense_Mutation	T	187521052	C	T	187521052	5	4	494	1	0	0	0	0	0	0	1	0	5691	695	24	2	1687	2	FAT1	4	187521052	Splice_Site	SNP	C	TCGA-CJ-4641-01A-02D-1386-10		187521052	3633224	13	26667											
PCDHA8	56140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140221437	140221437	+	Silent	SNP	C	C	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr5:140221437C>T	ENST00000531613.1	+	1	531	c.531C>T	c.(529-531)taC>taT	p.Y177Y	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.Y177Y|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	177	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Y177Y(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCATGATTACTTCATGCTAG	0.468																																																2	Substitution - coding silent(2)	kidney(2)											64	69	67					5																	140221437		2203	4300	6503	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.531C>T	5.37:g.140221437C>T			B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	CCDS54919.1																																																																																				0.468	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		T	140221437	C	T	140221437	2	4	494	1	0	0	0	0	0	0	0	1	11532	576	20	2		2	PCDHA8	5	140221437	Silent	SNP	C	TCGA-CJ-4641-01A-02D-1386-10		140221437	40693823	14	26668											
PCDHGA7	56108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140764005	140764005	+	Silent	SNP	C	C	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr5:140764005C>T	ENST00000518325.1	+	1	1539	c.1539C>T	c.(1537-1539)gtC>gtT	p.V513V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	513	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)	p.V513V(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACTGGAGTCCTGTACGCGC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											47	51	50					5																	140764005		2057	4229	6286	SO:0001819	synonymous_variant	56108			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1539C>T	5.37:g.140764005C>T			B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	CCDS54927.1																																																																																				0.512	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		T	140764005	C	T	140764005	2	4	494	1	0	0	0	0	0	0	0	1	11561	842	30	2		2	PCDHGA7	5	140764005	Silent	SNP	C	TCGA-CJ-4641-01A-02D-1386-10	542568	140764005	40151255	15	26669											
C5orf4	10826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154200918	154200918	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr5:154200918C>T	ENST00000326080.5	-	8	1170	c.747G>A	c.(745-747)atG>atA	p.M249I	FAXDC2_ENST00000517938.1_Missense_Mutation_p.M226I|FAXDC2_ENST00000523997.1_5'Flank	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	249					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.M249I(1)									AGGAAAACCACATGGTGATGG	0.542																																																1	Substitution - Missense(1)	kidney(1)											193	202	199					5																	154200918		2123	4219	6342	SO:0001583	missense	10826			AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"Fatty acid hydroxylase domain containing"	1334	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 4"	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.747G>A	5.37:g.154200918C>T	ENSP00000320604:p.Met249Ile		B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	C	9.091	1.001830	0.19121	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	D;D	0.82711	-1.64;-1.64	5.24	0.171	0.15026	Fatty acid hydroxylase (1);	0.663319	0.16294	N	0.220794	T	0.46946	0.1419	N	0.00422	-1.515	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10314	-1.0635	10	0.27785	T	0.31	.	3.4258	0.07410	0.2074:0.3672:0.3034:0.122	.	249	Q96IV6	CE004_HUMAN	I	249;226	ENSP00000320604:M249I;ENSP00000430286:M226I	ENSP00000320604:M249I	M	-	3	0	C5orf4	154181111	0.114000	0.22134	0.071000	0.20095	0.553000	0.35397	0.234000	0.17930	-0.290000	0.09025	-0.175000	0.13238	ATG		0.542	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		T	154200918	C	T	154200918	3	4	494	1	0	0	0	0	1	0	0	0	2300	478	17	2	262	2	C5orf4	5	154200918	Missense_Mutation	SNP	C	TCGA-CJ-4641-01A-02D-1386-10	13436913	154200918	26714342	16	26670											
OR5V1	81696	broad.mit.edu	37	6	29323659	29323659	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr6:29323659A>G	ENST00000377154.1	-	4	613	c.314T>C	c.(313-315)gTt>gCt	p.V105A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V105A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V105A(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACAAAGAAAACAAATGCAAA	0.423																																					Ovarian(32;43 883 21137 32120 42650)											1	Substitution - Missense(1)	kidney(1)											66	68	68					6																	29323659		2203	4299	6502	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.314T>C	6.37:g.29323659A>G	ENSP00000366359:p.Val105Ala		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	A	5.161	0.215201	0.09810	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00540	6.7;6.7	4.36	0.115	0.14643	GPCR, rhodopsin-like superfamily (1);	0.555826	0.13421	N	0.389171	T	0.00144	0.0004	L	0.27944	0.81	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.10776	-1.0615	10	0.18710	T	0.47	-13.9429	7.9862	0.30213	0.5056:0.373:0.0:0.1214	.	105	Q9UGF6	OR5V1_HUMAN	A	105	ENSP00000366359:V105A;ENSP00000443309:V105A	ENSP00000366356:V105A	V	-	2	0	OR5V1	29431638	0.000000	0.05858	0.319000	0.25293	0.034000	0.12701	0.081000	0.14823	0.264000	0.21851	0.438000	0.28831	GTT		0.423	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			G	29323659	A	G	29323659	3	3	494	1	0	0	0	0	1	0	0	0	11186	43	2	3	654	3	OR5V1	6	29323659	Missense_Mutation	SNP	A	TCGA-CJ-4641-01A-02D-1386-10		29323659	141791408	17	26671											
KCNQ5	56479	broad.mit.edu;ucsc.edu|broad.mit.edu	37	6	73904280	73904281	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr6:73904280_73904281CC>AT	ENST00000370398.1	+	14	2051_2052	c.1942_1943CC>AT	c.(1942-1944)CCt>ATt	p.P648I	KCNQ5_ENST00000402622.2_Missense_Mutation_p.P658I|KCNQ5_ENST00000342056.2_Missense_Mutation_p.P667I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.P538I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.P639I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P648I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P649I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	648					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.P648L(1)|p.P648T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CCAGATCCCACCTTTTGAATGT	0.48																																					GBM(142;1375 1859 14391 23261 44706)											2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	Exception_encountered	6.37:g.73904280_73904281delinsAT	ENSP00000359425:p.Pro648Ile		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1																																																																																				0.48	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		AT	73904281	CC	AT	73904280	3	1	494	1	0	0	0	0	1	0	0	0	8088	507	18	4	2057	4	KCNQ5	6	73904280	Missense_Mutation	DNP	CC	TCGA-CJ-4641-01A-02D-1386-10	44580621	73904280	97210787	18	26672											
NFE2L3	9603	broad.mit.edu;hgsc.bcm.edu	37	7	26225394	26225394	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr7:26225394G>T	ENST00000056233.3	+	4	2335	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	692					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.K692N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AAAAGGGAAAGAGAAAGTGAG	0.403																																																1	Substitution - Missense(1)	kidney(1)											31	31	31					7																	26225394		2127	4264	6391	SO:0001583	missense	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.2076G>T	7.37:g.26225394G>T	ENSP00000056233:p.Lys692Asn		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861479	0.51482	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.44482	0.92	5.3	-1.74	0.08056	.	0.396664	0.29501	N	0.011969	T	0.36303	0.0962	M	0.76328	2.33	0.31892	N	0.61707	P	0.47841	0.901	B	0.40940	0.344	T	0.47812	-0.9088	10	0.87932	D	0	-12.36	6.1167	0.20130	0.4003:0.1195:0.4802:0.0	.	692	Q9Y4A8	NF2L3_HUMAN	N	692;397	ENSP00000056233:K692N	ENSP00000056233:K692N	K	+	3	2	NFE2L3	26191919	0.505000	0.26131	0.647000	0.29507	0.930000	0.56654	-0.337000	0.07852	-0.327000	0.08551	-0.229000	0.12294	AAG		0.403	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			T	26225394	G	T	26225394	3	4	494	1	0	0	0	0	1	0	0	0	10371	933	33	4	2090	4	NFE2L3	7	26225394	Missense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10		26225394	132913269	19	26673											
ZNF735	0	broad.mit.edu;hgsc.bcm.edu	37	7	63680408	63680408	+	IGR	SNP	T	T	A			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr7:63680408T>A								GUSBP6 (69309 upstream) : ZNF679 (8443 downstream)																							ACCCTACACATGTGAAGAATG	0.428																																																0													32	35	34					7																	63680408		692	1591	2283	SO:0001628	intergenic_variant	730291																															7.37:g.63680408T>A				Missense_Mutation	SNP		37																																																																																				0	0.428									A	63680408	T	A	63680408	1	1	494	0	1	0	0	0	0	0	0	0	18129	1464	51	5		5	ZNF735	7	63680408	IGR	SNP	T	TCGA-CJ-4641-01A-02D-1386-10	37455014	63680408	95458255	20	26674											
CALD1	800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134618353	134618353	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr7:134618353A>T	ENST00000361675.2	+	5	1062	c.833A>T	c.(832-834)gAa>gTa	p.E278V	CALD1_ENST00000417172.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361388.2_Intron			Q05682	CALD1_HUMAN	caldesmon 1	278					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.E278V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAAGAAAGAGAAAGAATTAAA	0.438																																																1	Substitution - Missense(1)	kidney(1)											53	61	58					7																	134618353		2203	4300	6503	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.833A>T	7.37:g.134618353A>T	ENSP00000354826:p.Glu278Val		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027816	0.35797	.	.	ENSG00000122786	ENST00000361675	T	0.42513	0.97	4.75	3.53	0.40419	.	0.320649	0.21088	N	0.080365	T	0.43567	0.1253	M	0.67953	2.075	0.80722	D	1	P	0.38300	0.626	P	0.45232	0.474	T	0.36890	-0.9729	9	.	.	.	-15.2432	5.3706	0.16136	0.7606:0.0:0.0844:0.155	.	278	Q05682	CALD1_HUMAN	V	278	ENSP00000354826:E278V	.	E	+	2	0	CALD1	134268893	0.988000	0.35896	0.981000	0.43875	0.534000	0.34807	3.689000	0.54706	1.766000	0.52107	0.460000	0.39030	GAA		0.438	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		T	134618353	A	T	134618353	3	4	494	1	0	0	0	0	1	0	0	0	2583	246	9	5	900	5	CALD1	7	134618353	Missense_Mutation	SNP	A	TCGA-CJ-4641-01A-02D-1386-10	70937945	134618353	24520310	21	26675											
HOOK3	84376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	42821725	42821725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr8:42821725C>T	ENST00000307602.4	+	10	1089	c.889C>T	c.(889-891)Cag>Tag	p.Q297*		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	297					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.Q297*(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGATGAAGCTCAGTCTCTGAA	0.453			T	RET	papillary thyroid																																		Dom	yes		8	8p11.21	84376	hook homolog 3		E	1	Substitution - Nonsense(1)	kidney(1)											165	150	155					8																	42821725		2203	4300	6503	SO:0001587	stop_gained	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.889C>T	8.37:g.42821725C>T	ENSP00000305699:p.Gln297*		D3DSY8|Q8NBH0|Q9BY13	Nonsense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	C	39	7.410522	0.98265	.	.	ENSG00000168172	ENST00000307602	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-18.8039	19.7375	0.96212	0.0:1.0:0.0:0.0	.	.	.	.	X	297	.	ENSP00000305699:Q297X	Q	+	1	0	HOOK3	42940882	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.773000	0.85462	2.834000	0.97654	0.650000	0.86243	CAG		0.453	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		T	42821725	C	T	42821725	4	4	494	1	0	0	0	0	0	1	0	0	7286	827	29	2	927	2	HOOK3	8	42821725	Nonsense_Mutation	SNP	C	TCGA-CJ-4641-01A-02D-1386-10		42821725	103542297	22	26676											
MCM4	4173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	48889311	48889311	+	Silent	SNP	G	G	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr8:48889311G>T	ENST00000262105.2	+	16	2774	c.2565G>T	c.(2563-2565)gtG>gtT	p.V855V	RNU6-519P_ENST00000410590.1_RNA|MCM4_ENST00000523944.1_Silent_p.V855V	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	855					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.V855V(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TCCTGACAGTGACTGGGAAGA	0.498																																																1	Substitution - coding silent(1)	kidney(1)											151	136	141					8																	48889311		2203	4300	6503	SO:0001819	synonymous_variant	4173				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2565G>T	8.37:g.48889311G>T			Q8NEH1|Q99658	Silent	SNP	ENST00000262105.2	37	CCDS6143.1																																																																																				0.498	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		T	48889311	G	T	48889311	2	4	494	1	0	0	0	0	0	0	0	1	9391	1277	45	4		4	MCM4	8	48889311	Silent	SNP	G	TCGA-CJ-4641-01A-02D-1386-10	6067586	48889311	97474711	23	26677											
ABRA	137735	broad.mit.edu;hgsc.bcm.edu	37	8	107773724	107773724	+	Silent	SNP	C	C	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr8:107773724C>T	ENST00000311955.3	-	2	741	c.687G>A	c.(685-687)gaG>gaA	p.E229E		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.E229E(2)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			AGTTGAGTTTCTCTGTAAATC	0.433																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											56	54	54					8																	107773724		2203	4300	6503	SO:0001819	synonymous_variant	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.687G>A	8.37:g.107773724C>T				Silent	SNP	ENST00000311955.3	37	CCDS6305.1																																																																																				0.433	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		T	107773724	C	T	107773724	2	4	494	1	0	0	0	0	0	0	0	1	100	912	32	2		2	ABRA	8	107773724	Silent	SNP	C	TCGA-CJ-4641-01A-02D-1386-10	58884413	107773724	38590298	24	26678											
ZNF623	9831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144732657	144732657	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr8:144732657G>T	ENST00000501748.2	+	1	704	c.615G>T	c.(613-615)aaG>aaT	p.K205N	ZNF623_ENST00000526926.1_Missense_Mutation_p.K165N|ZNF623_ENST00000458270.2_Missense_Mutation_p.K165N	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K205N(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGAGAAAAGCCCTTCAAAT	0.468																																																1	Substitution - Missense(1)	kidney(1)											105	93	97					8																	144732657		2203	4300	6503	SO:0001583	missense	9831			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.615G>T	8.37:g.144732657G>T	ENSP00000445979:p.Lys205Asn		A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770564	0.49680	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.26067	1.76;1.76;1.76	4.34	-1.05	0.10036	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18593	0.0446	L	0.56340	1.77	0.28829	N	0.897242	B	0.31859	0.343	B	0.23574	0.047	T	0.21245	-1.0251	9	0.72032	D	0.01	-23.0382	3.7185	0.08448	0.2782:0.0:0.431:0.2908	.	205	O75123	ZN623_HUMAN	N	165;165;165;205;205	ENSP00000435232:K165N;ENSP00000411139:K165N;ENSP00000445979:K205N	ENSP00000330358:K165N	K	+	3	2	ZNF623	144803800	0.011000	0.17503	0.083000	0.20561	0.004000	0.04260	-0.328000	0.07945	-0.091000	0.12440	-0.890000	0.02929	AAG		0.468	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		T	144732657	G	T	144732657	3	4	494	1	0	0	0	0	1	0	0	0	18052	962	34	4	617	4	ZNF623	8	144732657	Missense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10	36958933	144732657	1631365	25	26679											
MAPK15	225689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144800451	144800451	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr8:144800451T>A	ENST00000338033.4	+	4	384	c.265T>A	c.(265-267)Tac>Aac	p.Y89N	MAPK15_ENST00000395108.2_Missense_Mutation_p.Y89N|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395107.4_Missense_Mutation_p.Y89N	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	89	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)	p.Y108N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGGACATTTACCTGGTGTT	0.627																																																1	Substitution - Missense(1)	kidney(1)											61	48	53					8																	144800451		2203	4300	6503	SO:0001583	missense	225689			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.265T>A	8.37:g.144800451T>A	ENSP00000337691:p.Tyr89Asn		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	t	27.3	4.816240	0.90790	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.69040	-0.37;-0.37;-0.37	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.133863	0.52532	D	0.000076	D	0.82990	0.5157	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86039	0.1518	10	0.87932	D	0	.	14.0488	0.64722	0.0:0.0:0.0:1.0	.	89	Q8TD08	MK15_HUMAN	N	89	ENSP00000337691:Y89N;ENSP00000378539:Y89N;ENSP00000378540:Y89N	ENSP00000337691:Y89N	Y	+	1	0	MAPK15	144872439	1.000000	0.71417	0.998000	0.56505	0.700000	0.40528	7.834000	0.86773	2.014000	0.59158	0.408000	0.27601	TAC		0.627	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		A	144800451	T	A	144800451	3	1	494	1	0	0	0	0	1	0	0	0	9279	1754	61	5	279	5	MAPK15	8	144800451	Missense_Mutation	SNP	T	TCGA-CJ-4641-01A-02D-1386-10	67794	144800451	1563571	26	26680											
ALDH18A1	5832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	97366699	97366699	+	Splice_Site	SNP	T	T	G			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr10:97366699T>G	ENST00000371224.2	-	18	2345	c.2208A>C	c.(2206-2208)ggA>ggC	p.G736G	ALDH18A1_ENST00000371221.3_Splice_Site_p.G734G	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	736	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)	p.G736G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CCACTTCAGCTCCTGTGAAAA	0.542																																																1	Substitution - coding silent(1)	kidney(1)											118	116	117					10																	97366699		2203	4300	6503	SO:0001630	splice_region_variant	5832			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.2207-1A>C	10.37:g.97366699T>G			B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	CCDS7443.1																																																																																				0.542	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860	Silent	G	97366699	T	G	97366699	5	3	494	1	0	0	0	0	0	0	1	0	489	1565	54	5	183	5	ALDH18A1	10	97366699	Splice_Site	SNP	T	TCGA-CJ-4641-01A-02D-1386-10		97366699	38168048	27	26681											
DUSP5	1847	broad.mit.edu;hgsc.bcm.edu	37	10	112269965	112269966	+	Missense_Mutation	DNP	GT	GT	TC			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr10:112269965_112269966GT>TC	ENST00000369583.3	+	4	1220_1221	c.936_937GT>TC	c.(934-939)caGTac>caTCac	p.312_313QY>HH	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	312	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Q312H(2)|p.Y313H(2)		kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGCTCCTGCAGTACGAATCTGA	0.584																																																4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	1847			U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	Exception_encountered	10.37:g.112269965_112269966delinsTC	ENSP00000358596:p.Q312_Y313delinsHH		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	CCDS7566.1																																																																																				0.584	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		TC	112269966	GT	TC	112269965	3	4	494	1	0	0	0	0	1	0	0	0	4830	1020	36	4	950	4	DUSP5	10	112269965	Missense_Mutation	DNP	GT	TCGA-CJ-4641-01A-02D-1386-10	14903266	112269965	23264782	28	26682											
OR52A4	390053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5142378	5142378	+	RNA	SNP	A	A	G			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr11:5142378A>G	ENST00000498233.1	-	0	1014							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L144P(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATAAGTGACTAGCTGTCGAGT	0.463																																																1	Substitution - Missense(1)	kidney(1)											73	66	68					11																	5142378		2201	4298	6499			390053					11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"GPCR / Class A : Olfactory receptors"	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142378A>G				Missense_Mutation	SNP	ENST00000498233.1	37		.	.	.	.	.	.	.	.	.	.	A	1.449	-0.565503	0.03939	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.07	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66607	0.2806	.	.	.	0.24066	N	0.995997	D	0.71674	0.998	D	0.76071	0.987	T	0.70178	-0.4943	6	0.87932	D	0	.	6.2324	0.20742	0.7511:0.1597:0.0892:0.0	.	144	A6NMU1	O52A4_HUMAN	P	144	.	ENSP00000369727:L144P	L	-	2	0	OR52A4	5098954	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.335000	0.07873	0.203000	0.20529	0.528000	0.53228	CTA		0.463	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		G	5142378	A	G	5142378	1	3	494	0	1	0	0	0	0	0	0	0	11111	420	15	3		3	OR52A4	11	5142378	RNA	SNP	A	TCGA-CJ-4641-01A-02D-1386-10		5142378	129864138	29	26683											
ARFGAP2	84364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47193866	47193866	+	Missense_Mutation	SNP	A	A	G	rs369493716		TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr11:47193866A>G	ENST00000524782.1	-	8	866	c.638T>C	c.(637-639)aTt>aCt	p.I213T	ARFGAP2_ENST00000419701.2_Missense_Mutation_p.I106T|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000426335.2_Intron|RP11-390K5.6_ENST00000524412.1_RNA	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	213	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.I213T(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTCTTGCCAATGATGGAGCT	0.537																																																1	Substitution - Missense(1)	kidney(1)						A	THR/ILE,THR/ILE	1,4401	2.1+/-5.4	0,1,2200	316	285	295		554,638	6.1	1	11		295	0,8596		0,0,4298	no	missense,missense	ARFGAP2	NM_001242832.1,NM_032389.4	89,89	0,1,6498	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	185/494,213/522	47193866	1,12997	2201	4298	6499	SO:0001583	missense	84364			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.638T>C	11.37:g.47193866A>G	ENSP00000434442:p.Ile213Thr		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276919	0.80580	2.27E-4	0.0	ENSG00000149182	ENST00000524782;ENST00000419701;ENST00000525398;ENST00000525314;ENST00000528444	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.99	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.74258	2.255	0.80722	D	1	P;P	0.52061	0.95;0.745	P;B	0.53185	0.72;0.367	T	0.56269	-0.8007	10	0.34782	T	0.22	-15.0887	15.8218	0.78654	1.0:0.0:0.0:0.0	.	106;213	B4DX29;Q8N6H7	.;ARFG2_HUMAN	T	213;106;227;227;238	ENSP00000434442:I213T;ENSP00000389264:I106T;ENSP00000431939:I227T;ENSP00000434809:I227T;ENSP00000431684:I238T	ENSP00000389264:I106T	I	-	2	0	ARFGAP2	47150442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.870000	0.92336	2.326000	0.78906	0.533000	0.62120	ATT		0.537	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		G	47193866	A	G	47193866	3	3	494	1	0	0	0	0	1	0	0	0	850	101	4	3	963	3	ARFGAP2	11	47193866	Missense_Mutation	SNP	A	TCGA-CJ-4641-01A-02D-1386-10	42051488	47193866	87812650	30	26684											
EHBP1L1	254102	broad.mit.edu;ucsc.edu	37	11	65348529	65348529	+	Splice_Site	SNP	A	A	C	rs199770292		TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr11:65348529A>C	ENST00000309295.4	+	7	900	c.635A>C	c.(634-636)gAt>gCt	p.D212A		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	212						membrane (GO:0016020)		p.D212A(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCATTCCCAGATCCCTCTCGA	0.647																																																1	Substitution - Missense(1)	kidney(1)											26	29	28					11																	65348529		1974	4155	6129	SO:0001630	splice_region_variant	254102			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.635-1A>C	11.37:g.65348529A>C			Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.681806	0.29872	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;T	0.81415	-0.16;-1.49	5.01	2.65	0.31530	.	0.663342	0.13273	N	0.400395	T	0.64316	0.2587	L	0.34521	1.04	0.29440	N	0.859243	P	0.35328	0.495	B	0.27170	0.077	T	0.55166	-0.8183	9	.	.	.	.	4.8576	0.13566	0.7112:0.19:0.0988:0.0	.	212	Q8N3D4	EH1L1_HUMAN	A	212	ENSP00000312671:D212A;ENSP00000431996:D212A	.	D	+	2	0	EHBP1L1	65105105	0.969000	0.33509	0.011000	0.14972	0.071000	0.16799	2.306000	0.43673	0.254000	0.21573	-0.435000	0.05868	GAT		0.647	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658	Missense_Mutation	C	65348529	A	C	65348529	5	2	494	1	0	0	0	0	0	0	1	0	4978	347	12	5	661	5	EHBP1L1	11	65348529	Splice_Site	SNP	A	TCGA-CJ-4641-01A-02D-1386-10	18154663	65348529	69657987	31	26685											
POU2AF1	5450	broad.mit.edu;ucsc.edu	37	11	111228240	111228240	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr11:111228240G>C	ENST00000393067.3	-	4	900	c.386C>G	c.(385-387)cCc>cGc	p.P129R		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	129					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.P129R(1)		breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CGTGTAGCTGGGGCACACGGG	0.602			T	BCL6	NHL																																		Dom	yes		11	11q23.1	5450	"POU domain, class 2, associating factor 1 (OBF1)"		L	1	Substitution - Missense(1)	kidney(1)											68	59	62					11																	111228240		2201	4297	6498	SO:0001583	missense	5450				CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.386C>G	11.37:g.111228240G>C	ENSP00000376786:p.Pro129Arg		B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005075	0.74932	.	.	ENSG00000110777	ENST00000393067	T	0.50277	0.75	4.95	4.95	0.65309	.	0.135348	0.49916	D	0.000122	T	0.56731	0.2005	L	0.48642	1.525	0.37866	D	0.929882	D	0.59357	0.985	P	0.58820	0.846	T	0.64275	-0.6446	10	0.87932	D	0	-4.2434	12.8574	0.57892	0.0:0.0:0.8368:0.1632	.	129	Q16633	OBF1_HUMAN	R	129	ENSP00000376786:P129R	ENSP00000376786:P129R	P	-	2	0	POU2AF1	110733450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.634000	0.67833	2.302000	0.77476	0.492000	0.49549	CCC		0.602	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		C	111228240	G	C	111228240	3	2	494	1	0	0	0	0	1	0	0	0	12272	1232	43	4	392	4	POU2AF1	11	111228240	Missense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10	45879711	111228240	23778276	32	26686											
TAS2R31	259290	broad.mit.edu;hgsc.bcm.edu	37	12	11183307	11183307	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr12:11183307G>T	ENST00000390675.2	-	1	699	c.628C>A	c.(628-630)Cag>Aag	p.Q210K	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	210					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.Q210K(1)		kidney(1)|lung(6)	7						CCATGGAGCTGCATCTTCTTG	0.428																																																1	Substitution - Missense(1)	kidney(1)											145	149	148					12																	11183307		2203	4300	6503	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.628C>A	12.37:g.11183307G>T	ENSP00000375093:p.Gln210Lys		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	8.037	0.762961	0.15914	.	.	ENSG00000256436	ENST00000390675	T	0.00801	5.68	2.62	1.69	0.24217	.	.	.	.	.	T	0.01320	0.0043	L	0.45698	1.435	0.09310	N	1	B	0.19445	0.036	B	0.29267	0.1	T	0.42949	-0.9421	9	0.51188	T	0.08	.	7.3273	0.26563	0.0:0.2756:0.7244:0.0	.	210	P59538	T2R31_HUMAN	K	210	ENSP00000375093:Q210K	ENSP00000375093:Q210K	Q	-	1	0	TAS2R31	11074574	0.041000	0.20044	0.076000	0.20297	0.072000	0.16883	1.101000	0.31037	0.433000	0.26313	0.194000	0.17425	CAG		0.428	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		T	11183307	G	T	11183307	3	4	494	1	0	0	0	0	1	0	0	0	15579	1328	46	4	305	4	TAS2R31	12	11183307	Missense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10		11183307	122668588	33	26687											
PHLDA1	22822	broad.mit.edu	37	12	76424953	76424955	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	TGG	TGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr12:76424953_76424955delTGG	ENST00000266671.5	-	1	2757_2759	c.567_569delCCA	c.(565-570)caccag>cag	p.H189del	RP11-290L1.3_ENST00000552367.1_RNA|RP11-290L1.2_ENST00000547721.1_RNA|PHLDA1_ENST00000602540.1_In_Frame_Del_p.H48del			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	189	PH.|Poly-Gln.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				ctgctgctgctggtgttgcagct	0.645																																																0																																										SO:0001651	inframe_deletion	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"proline-histidine rich protein"	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.567_569delCCA	12.37:g.76424953_76424955delTGG	ENSP00000266671:p.His189del		A1A4G9|Q15184|Q2TAN2|Q9NZ17	In_Frame_Del	DEL	ENST00000266671.5	37	CCDS31861.1																																																																																				0.645	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350		-	76424955	TGG	-	76424953	7	5	494	1	0	1	0	1	0	0	0	0	11850	1580	55	0	640	0	PHLDA1	12	76424953	In_Frame_Del	DEL	TGG	TCGA-CJ-4641-01A-02D-1386-10	65241646	76424953	57426942	34	26688											
HIP1R	9026	broad.mit.edu	37	12	123343703	123343703	+	Silent	SNP	C	C	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr12:123343703C>T	ENST00000253083.4	+	22	2379	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	752					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)	p.L752L(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GCAGGCCAGCCTGGTGCGGAC	0.682																																																1	Substitution - coding silent(1)	kidney(1)											13	13	13					12																	123343703		2182	4280	6462	SO:0001819	synonymous_variant	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2254C>T	12.37:g.123343703C>T			A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	CCDS31922.1																																																																																				0.682	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		T	123343703	C	T	123343703	2	4	494	1	0	0	0	0	0	0	0	1	7117	680	24	2		2	HIP1R	12	123343703	Silent	SNP	C	TCGA-CJ-4641-01A-02D-1386-10	46918750	123343703	10508192	35	26689											
GJA3	2700	broad.mit.edu	37	13	20717063	20717063	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr13:20717063G>A	ENST00000241125.3	-	2	541	c.365C>T	c.(364-366)cCc>cTc	p.P122L		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	122					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.P122L(1)		NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		TGGCTCCTTGGGGCTGGGGCt	0.632																																																1	Substitution - Missense(1)	kidney(1)											18	19	19					13																	20717063		2184	4288	6472	SO:0001583	missense	2700			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"Ion channels / Gap junction proteins (connexins)"	4277	protein-coding gene	gene with protein product	"connexin 46"	121015	"gap junction protein, alpha 3, 46kD (connexin 46)", "gap junction protein, alpha 3, 46kDa (connexin 46)"	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.365C>T	13.37:g.20717063G>A	ENSP00000241125:p.Pro122Leu		Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	37	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	G	3.115	-0.181815	0.06340	.	.	ENSG00000121743	ENST00000241125	D	0.97404	-4.37	4.18	-4.06	0.03986	.	0.360716	0.27031	N	0.021275	D	0.88570	0.6472	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.79862	-0.1624	10	0.30078	T	0.28	.	8.7336	0.34514	0.0:0.2694:0.3091:0.4215	.	122	Q9Y6H8	CXA3_HUMAN	L	122	ENSP00000241125:P122L	ENSP00000241125:P122L	P	-	2	0	GJA3	19615063	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.525000	0.02231	-0.543000	0.06240	-0.305000	0.09177	CCC		0.632	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		A	20717063	G	A	20717063	3	1	494	1	0	0	0	0	1	0	0	0	6404	1232	43	2	946	2	GJA3	13	20717063	Missense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10		20717063	94452815	36	26690											
PABPC3	5042	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25670501	25670501	+	Silent	SNP	G	G	A			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr13:25670501G>A	ENST00000281589.3	+	1	202	c.165G>A	c.(163-165)gcG>gcA	p.A55A		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	55	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.A55A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCAACTACGCGTATGTGAACT	0.547																																																1	Substitution - coding silent(1)	kidney(1)											87	80	82					13																	25670501		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.165G>A	13.37:g.25670501G>A			Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																				0.547	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25670501	G	A	25670501	2	1	494	1	0	0	0	0	0	0	0	1	11367	1132	40	1		1	PABPC3	13	25670501	Silent	SNP	G	TCGA-CJ-4641-01A-02D-1386-10	4953438	25670501	89499377	37	26691											
OLFM4	10562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	53603018	53603018	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr13:53603018G>T	ENST00000219022.2	+	1	125	c.47G>T	c.(46-48)gGc>gTc	p.G16V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	16					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.G16V(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTCTTCCTTGGCCAAGCTGCA	0.592																																																1	Substitution - Missense(1)	kidney(1)											118	121	120					13																	53603018		2203	4300	6503	SO:0001583	missense	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.47G>T	13.37:g.53603018G>T	ENSP00000219022:p.Gly16Val		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863476	0.32884	.	.	ENSG00000102837	ENST00000219022	D	0.92249	-3.0	4.03	2.16	0.27623	.	1.111320	0.06809	N	0.790113	D	0.87877	0.6288	L	0.50333	1.59	0.09310	N	0.999997	P	0.44877	0.845	B	0.36719	0.231	T	0.78219	-0.2289	10	0.87932	D	0	.	6.3305	0.21266	0.2418:0.0:0.7582:0.0	.	16	Q6UX06	OLFM4_HUMAN	V	16	ENSP00000219022:G16V	ENSP00000219022:G16V	G	+	2	0	OLFM4	52501019	0.000000	0.05858	0.001000	0.08648	0.344000	0.29017	-0.313000	0.08103	0.575000	0.29434	0.655000	0.94253	GGC		0.592	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		T	53603018	G	T	53603018	3	4	494	1	0	0	0	0	1	0	0	0	10857	1203	42	4	49	4	OLFM4	13	53603018	Missense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10	27932517	53603018	61566860	38	26692											
NFATC4	4776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24845237	24845237	+	Silent	SNP	C	C	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr14:24845237C>T	ENST00000250373.4	+	8	2127	c.1986C>T	c.(1984-1986)gtC>gtT	p.V662V	NFATC4_ENST00000556279.1_Silent_p.V694V|NFATC4_ENST00000553708.1_Silent_p.V662V|NFATC4_ENST00000554050.1_Silent_p.V662V|NFATC4_ENST00000554966.1_Silent_p.V675V|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000555590.1_Silent_p.V675V|NFATC4_ENST00000554661.1_Silent_p.V592V|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000553879.1_Silent_p.V592V|NFATC4_ENST00000424781.2_Silent_p.V675V|NFATC4_ENST00000557451.1_Silent_p.V592V|NFATC4_ENST00000556169.1_Silent_p.V650V|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000555167.1_Silent_p.V197V|NFATC4_ENST00000554591.1_Silent_p.V725V|NFATC4_ENST00000413692.2_Silent_p.V725V|NFATC4_ENST00000554473.1_Silent_p.V197V|NFATC4_ENST00000422617.3_Silent_p.V650V|NFATC4_ENST00000554344.1_Silent_p.V592V|NFATC4_ENST00000539237.2_Silent_p.V694V|NFATC4_ENST00000553469.1_Silent_p.V694V|NFATC4_ENST00000555453.1_Silent_p.V650V|NFATC4_ENST00000556759.1_Silent_p.V197V	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	662	IPT/TIG.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.V725V(1)|p.V662V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCGGCCAGTCCAGGTCTACT	0.582																																																2	Substitution - coding silent(2)	kidney(2)											111	122	118					14																	24845237		2203	4300	6503	SO:0001819	synonymous_variant	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1986C>T	14.37:g.24845237C>T			B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	37	CCDS9629.1																																																																																				0.582	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		T	24845237	C	T	24845237	2	4	494	1	0	0	0	0	0	0	0	1	10367	842	30	2		2	NFATC4	14	24845237	Silent	SNP	C	TCGA-CJ-4641-01A-02D-1386-10		24845237	82504303	39	26693											
ADSSL1	122622	broad.mit.edu;hgsc.bcm.edu	37	14	105196283	105196283	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr14:105196283G>T	ENST00000332972.5	+	1	213	c.54G>T	c.(52-54)agG>agT	p.R18S	ADSSL1_ENST00000330877.2_Intron	NM_199165.1	NP_954634.1			adenylosuccinate synthase like 1									p.R18S(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		gtgGGCAGAGGCCCACGAACC	0.692																																																1	Substitution - Missense(1)	kidney(1)											34	33	33					14																	105196283		2183	4271	6454	SO:0001583	missense	122622			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000332972.5:c.54G>T	14.37:g.105196283G>T	ENSP00000333019:p.Arg18Ser			Missense_Mutation	SNP	ENST00000332972.5	37	CCDS9991.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148469	0.37923	.	.	ENSG00000185100	ENST00000332972	T	0.49139	0.79	0.471	0.471	0.16752	.	.	.	.	.	T	0.30759	0.0775	N	0.08118	0	0.80722	D	1	P	0.37500	0.597	B	0.42916	0.402	T	0.24154	-1.0168	8	0.87932	D	0	-10.3745	.	.	.	.	18	Q8N142-2	.	S	18	ENSP00000333019:R18S	ENSP00000333019:R18S	R	+	3	2	ADSSL1	104267328	0.028000	0.19301	0.187000	0.23214	0.043000	0.13939	-0.121000	0.10643	0.489000	0.27749	0.205000	0.17691	AGG		0.692	ADSSL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410531.1			T	105196283	G	T	105196283	3	4	494	1	0	0	0	0	1	0	0	0	348	1194	42	4	252	4	ADSSL1	14	105196283	Missense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10	80351046	105196283	2153257	40	26694											
FBN1	2200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48748913	48748913	+	Silent	SNP	C	C	A	rs140649	byFrequency	TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr15:48748913C>A	ENST00000316623.5	-	44	5798	c.5343G>T	c.(5341-5343)gtG>gtT	p.V1781V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1781	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V1781V(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGTTGATACACACTCCATTTT	0.453																																																1	Substitution - coding silent(1)	kidney(1)	GRCh37	CS077359	FBN1	S	rs140649						149	129	136					15																	48748913		2198	4296	6494	SO:0001819	synonymous_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5343G>T	15.37:g.48748913C>A			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.453	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			A	48748913	C	A	48748913	2	1	494	1	0	0	0	0	0	0	0	1	5704	465	17	4		4	FBN1	15	48748913	Silent	SNP	C	TCGA-CJ-4641-01A-02D-1386-10		48748913	53782479	41	26695											
CSPG4	1464	hgsc.bcm.edu	37	15	75982085	75982085	+	Missense_Mutation	SNP	C	C	T	rs79463888	byFrequency	TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr15:75982085C>T	ENST00000308508.5	-	3	1413	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	441	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGCCCCCCTCGGCCACCACC	0.637																																																0													43	42	43					15																	75982085		2197	4292	6489	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1321G>A	15.37:g.75982085C>T	ENSP00000312506:p.Glu441Lys		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	18.26	3.584924	0.65992	.	.	ENSG00000173546	ENST00000308508	T	0.31510	1.49	5.26	5.26	0.73747	.	0.170667	0.41001	D	0.000974	T	0.48642	0.1511	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	P	0.56278	0.795	T	0.52041	-0.8628	10	0.59425	D	0.04	.	11.3564	0.49617	0.0:0.9168:0.0:0.0831	.	441	Q6UVK1	CSPG4_HUMAN	K	441	ENSP00000312506:E441K	ENSP00000312506:E441K	E	-	1	0	CSPG4	73769140	1.000000	0.71417	0.998000	0.56505	0.513000	0.34164	4.634000	0.61325	2.463000	0.83235	0.555000	0.69702	GAG		0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		T	75982085	C	T	75982085	3	4	494	1	0	0	0	0	1	0	0	0	3962	893	31	1	5679	1	CSPG4	15	75982085	Missense_Mutation	SNP	C	TCGA-CJ-4641-01A-02D-1386-10	27233172	75982085	26549307	42	26696											
KIAA0174	9798	broad.mit.edu;hgsc.bcm.edu	37	16	71956438	71956438	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr16:71956438A>C	ENST00000378799.6	+	7	970	c.614A>C	c.(613-615)aAg>aCg	p.K205T	IST1_ENST00000538850.1_Missense_Mutation_p.K57T|IST1_ENST00000606369.1_Missense_Mutation_p.K57T|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000535424.1_Missense_Mutation_p.K218T|IST1_ENST00000378798.5_Missense_Mutation_p.K205T|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000544564.1_Missense_Mutation_p.K205T|IST1_ENST00000329908.8_Missense_Mutation_p.K205T|IST1_ENST00000541571.2_Missense_Mutation_p.K205T			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	205	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.K205T(1)									GATGATGTGAAGAAAGGAGGC	0.517																																																1	Substitution - Missense(1)	kidney(1)											135	129	131					16																	71956438		2198	4300	6498	SO:0001583	missense	0			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.614A>C	16.37:g.71956438A>C	ENSP00000368076:p.Lys205Thr		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	CCDS59272.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677772	0.68042	.	.	ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000538963;ENST00000329908;ENST00000538850;ENST00000378798;ENST00000456820	.	.	.	5.54	5.54	0.83059	.	0.041579	0.85682	D	0.000000	T	0.53334	0.1790	L	0.42245	1.32	0.53005	D	0.999969	D;P;D;D	0.55800	0.973;0.763;0.96;0.973	P;P;P;P	0.54174	0.544;0.463;0.744;0.544	T	0.49978	-0.8881	9	0.27082	T	0.32	-20.031	9.3747	0.38275	0.9206:0.0:0.0794:0.0	.	205;205;205;218	P53990;P53990-2;P53990-3;A8KAH5	IST1_HUMAN;.;.;.	T	218;205;194;205;57;205;143	.	ENSP00000330408:K205T	K	+	2	0	KIAA0174	70513939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.237000	0.72345	2.110000	0.64415	0.533000	0.62120	AAG		0.517	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		C	71956438	A	C	71956438	3	2	494	1	0	0	0	0	1	0	0	0	8160	72	3	5	636	5	KIAA0174	16	71956438	Missense_Mutation	SNP	A	TCGA-CJ-4641-01A-02D-1386-10		71956438	18398315	43	26697											
AXIN2	8313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	63554465	63554465	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr17:63554465C>T	ENST00000375702.5	-	1	382	c.274G>A	c.(274-276)Gct>Act	p.A92T	AXIN2_ENST00000307078.5_Missense_Mutation_p.A92T|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	92	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.A92T(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AACAGGTAAGCACCGTCTTGA	0.552									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																							1	Substitution - Missense(1)	kidney(1)											143	138	140					17																	63554465		2203	4300	6503	SO:0001583	missense	8313	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.274G>A	17.37:g.63554465C>T	ENSP00000364854:p.Ala92Thr		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37		.	.	.	.	.	.	.	.	.	.	C	13.38	2.220192	0.39201	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.22336	1.96;1.96;1.96	4.91	4.91	0.64330	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.45228	1.405	0.80722	D	1	D;B;D	0.63046	0.992;0.016;0.992	P;B;P	0.62382	0.901;0.063;0.901	T	0.03193	-1.1062	10	0.16420	T	0.52	-10.5408	17.7206	0.88350	0.0:1.0:0.0:0.0	.	92;92;92	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	T	92	ENSP00000302625:A92T;ENSP00000441151:A92T;ENSP00000364854:A92T	ENSP00000302625:A92T	A	-	1	0	AXIN2	60984927	0.999000	0.42202	0.976000	0.42696	0.979000	0.70002	3.295000	0.51794	2.262000	0.75019	0.555000	0.69702	GCT		0.552	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		T	63554465	C	T	63554465	3	4	494	1	0	0	0	0	1	0	0	0	1237	710	25	2	2297	2	AXIN2	17	63554465	Missense_Mutation	SNP	C	TCGA-CJ-4641-01A-02D-1386-10		63554465	17640745	44	26698											
NARF	26502	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80436689	80436689	+	Silent	SNP	C	C	T	rs374759625		TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr17:80436689C>T	ENST00000309794.11	+	6	732	c.534C>T	c.(532-534)taC>taT	p.Y178Y	NARF_ENST00000345415.7_Silent_p.Y130Y|NARF_ENST00000412079.2_Silent_p.Y50Y|RP13-991F5.2_ENST00000582249.1_RNA|NARF_ENST00000390006.4_Silent_p.Y119Y|NARF_ENST00000457415.3_Silent_p.Y178Y|NARF_ENST00000581743.1_3'UTR	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	178						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.Y178Y(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGGTCCGATACGCCGAGCGGG	0.617																																																1	Substitution - coding silent(1)	kidney(1)						C	,,,	0,4406		0,0,2203	44	40	41		357,390,534,534	-3.1	0.1	17		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NARF	NM_001038618.2,NM_001083608.1,NM_012336.3,NM_031968.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	119/398,130/409,178/457,178/503	80436689	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26502			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.534C>T	17.37:g.80436689C>T			A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Silent	SNP	ENST00000309794.11	37	CCDS32777.1																																																																																				0.617	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		T	80436689	C	T	80436689	2	4	494	1	0	0	0	0	0	0	0	1	10169	547	19	1		1	NARF	17	80436689	Silent	SNP	C	TCGA-CJ-4641-01A-02D-1386-10	16882224	80436689	758521	45	26699											
CCDC11	4152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	47792751	47792751	+	IGR	SNP	G	G	A			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr18:47792751G>A	ENST00000591416.1	-	0	4905				CCDC11_ENST00000398545.4_Silent_p.T8T			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T8T(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCCGCTGTACGGTGCCAAACC	0.637																																																1	Substitution - coding silent(1)	kidney(1)											95	102	99					18																	47792751		1967	4160	6127	SO:0001628	intergenic_variant	220136			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669		18.37:g.47792751G>A			A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	CCDS11943.1																																																																																				0.637	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		A	47792751	G	A	47792751	1	1	494	0	1	0	0	0	0	0	0	0	2748	1103	39	1		1	CCDC11	18	47792751	IGR	SNP	G	TCGA-CJ-4641-01A-02D-1386-10		47792751	30284497	46	26700											
RBCK1	10616	broad.mit.edu;hgsc.bcm.edu	37	20	402784	402784	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr20:402784G>A	ENST00000356286.5	+	8	1636	c.931G>A	c.(931-933)Ggc>Agc	p.G311S	RBCK1_ENST00000382181.2_Missense_Mutation_p.G141S|RBCK1_ENST00000353660.3_Missense_Mutation_p.G269S	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	311					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G269S(1)|p.G311S(1)		kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GTGCCTGCAGGGCACCATCCG	0.612																																																2	Substitution - Missense(2)	kidney(2)											88	82	84					20																	402784		2203	4300	6503	SO:0001583	missense	10616			U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.931G>A	20.37:g.402784G>A	ENSP00000348632:p.Gly311Ser		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.61|19.61	3.859429|3.859429	0.71834|0.71834	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000400244|ENST00000356286;ENST00000353660;ENST00000382181	.|T;T;T	.|0.71461	.|-0.57;-0.26;0.91	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.115728|0.115728	0.56097|0.56097	D|D	0.000024|0.000024	T|T	0.50837|0.50837	0.1639|0.1639	N|N	0.16656|0.16656	0.425|0.425	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.30824	.|0.296;0.235;0.056	.|B;B;B	.|0.28305	.|0.046;0.069;0.088	T|T	0.49634|0.49634	-0.8919|-0.8919	7|10	0.54805|0.08837	T|T	0.06|0.75	-24.3|-24.3	13.806|13.806	0.63233|0.63233	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|141;269;311	.|A6PVK0;Q9BYM8-3;Q9BYM8	.|.;.;HOIL1_HUMAN	E|S	257|311;269;141	.|ENSP00000348632:G311S;ENSP00000254960:G269S;ENSP00000371616:G141S	ENSP00000383103:G257E|ENSP00000254960:G269S	G|G	+|+	2|1	0|0	RBCK1|RBCK1	350784|350784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.399000|5.399000	0.66314|0.66314	2.640000|2.640000	0.89533|0.89533	0.462000|0.462000	0.41574|0.41574	GGG|GGC		0.612	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		A	402784	G	A	402784	3	1	494	1	0	0	0	0	1	0	0	0	13113	1232	43	2	980	2	RBCK1	20	402784	Missense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10		402784	62622736	47	26701											
SPAG4	6676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34207221	34207221	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chr20:34207221G>T	ENST00000374273.3	+	9	1010	c.898G>T	c.(898-900)Gtt>Ttt	p.V300F		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	300	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.V300F(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCCGCCCACGGTTATCCTGGA	0.602																																																1	Substitution - Missense(1)	kidney(1)											80	81	80					20																	34207221		2203	4300	6503	SO:0001583	missense	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.898G>T	20.37:g.34207221G>T	ENSP00000363391:p.Val300Phe		O43648	Missense_Mutation	SNP	ENST00000374273.3	37	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567753	0.86439	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.46819	0.86;0.86	4.87	4.87	0.63330	Sad1/UNC-like, C-terminal (2);	0.300114	0.32244	N	0.006371	T	0.61009	0.2313	M	0.81802	2.56	0.42183	D	0.99169	P;P	0.51147	0.782;0.942	P;P	0.51487	0.521;0.671	T	0.67968	-0.5533	10	0.87932	D	0	-3.323	13.7084	0.62654	0.0:0.0:1.0:0.0	.	175;300	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	F	300;175	ENSP00000363391:V300F;ENSP00000396670:V175F	ENSP00000363391:V300F	V	+	1	0	SPAG4	33670635	0.996000	0.38824	0.989000	0.46669	0.956000	0.61745	3.078000	0.50096	2.695000	0.91970	0.462000	0.41574	GTT		0.602	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		T	34207221	G	T	34207221	3	4	494	1	0	0	0	0	1	0	0	0	14986	1261	44	4	932	4	SPAG4	20	34207221	Missense_Mutation	SNP	G	TCGA-CJ-4641-01A-02D-1386-10	33804437	34207221	28818299	48	26702											
ACRC	93953	broad.mit.edu;ucsc.edu	37	X	70824426	70824426	+	Silent	SNP	T	T	C			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chrX:70824426T>C	ENST00000373695.1	+	7	1836	c.1299T>C	c.(1297-1299)aaT>aaC	p.N433N	ACRC_ENST00000373696.3_Silent_p.N433N			Q96QF7	ACRC_HUMAN	acidic repeat containing	433	Arg/Lys/Pro-rich.					nucleus (GO:0005634)		p.N433N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGACCAAAAATATAGTGGAGC	0.453																																																1	Substitution - coding silent(1)	kidney(1)											60	44	49					X																	70824426		2200	4299	6499	SO:0001819	synonymous_variant	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1299T>C	X.37:g.70824426T>C			B9EG62	Silent	SNP	ENST00000373695.1	37	CCDS35326.1																																																																																				0.453	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			C	70824426	T	C	70824426	2	2	494	1	0	0	0	0	0	0	0	1	171	1403	49	3		3	ACRC	23	70824426	Silent	SNP	T	TCGA-CJ-4641-01A-02D-1386-10		70824426	84446134	49	26703											
MAMLD1	10046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	149638089	149638089	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4641-01A-02D-1386-10	TCGA-CJ-4641-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c00265ac-c6cc-4349-ac30-e2e44582015a	18faa42a-cc27-47be-84d6-9ae798ac5172	g.chrX:149638089A>C	ENST00000370401.2	+	4	554	c.244A>C	c.(244-246)Aaa>Caa	p.K82Q	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.K82Q|MAMLD1_ENST00000426613.2_Missense_Mutation_p.K57Q|MAMLD1_ENST00000432680.2_Missense_Mutation_p.K57Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	82					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K57Q(1)|p.K9Q(1)|p.K82Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCCTAATAAAATTAAGAG	0.488																																																3	Substitution - Missense(3)	kidney(3)											88	90	89					X																	149638089		2203	4300	6503	SO:0001583	missense	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.244A>C	X.37:g.149638089A>C	ENSP00000359428:p.Lys82Gln		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157454	0.38119	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.66460	0.2;-0.21;0.2;0.2	5.36	2.95	0.34219	.	0.357176	0.28700	N	0.014431	T	0.59770	0.2218	L	0.41236	1.265	0.80722	D	1	D;B;B;B	0.62365	0.991;0.141;0.1;0.141	P;B;B;B	0.53593	0.73;0.067;0.111;0.116	T	0.56786	-0.7921	10	0.30854	T	0.27	-4.5572	2.2327	0.04001	0.3437:0.3085:0.3478:0.0	.	44;57;57;82	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	Q	44;82;57;82;82;57	ENSP00000359428:K82Q;ENSP00000414517:K57Q;ENSP00000262858:K82Q;ENSP00000397438:K57Q	ENSP00000262858:K82Q	K	+	1	0	MAMLD1	149388747	1.000000	0.71417	0.976000	0.42696	0.986000	0.74619	3.292000	0.51772	0.667000	0.31107	0.486000	0.48141	AAA		0.488	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		C	149638089	A	C	149638089	3	2	494	1	0	0	0	0	1	0	0	0	9210	363	13	5	254	5	MAMLD1	23	149638089	Missense_Mutation	SNP	A	TCGA-CJ-4641-01A-02D-1386-10	78813663	149638089	5632471	50	26704											
ZMYM4	9202	broad.mit.edu;ucsc.edu	37	1	35853066	35853066	+	Silent	SNP	T	T	C			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr1:35853066T>C	ENST00000314607.6	+	13	2204	c.2124T>C	c.(2122-2124)ttT>ttC	p.F708F	ZMYM4_ENST00000373297.2_Silent_p.F619F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	708					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCAAAATGTTTCAGTTCTGTG	0.294																																																0													52	57	55					1																	35853066		2203	4300	6503	SO:0001819	synonymous_variant	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2124T>C	1.37:g.35853066T>C			A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	T	7.343	0.621231	0.14193	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	T	0.60314	0.2259	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59685	-0.7408	4	.	.	.	-15.417	8.9969	0.36059	0.0:0.0914:0.0:0.9086	.	.	.	.	P	368	.	.	S	+	1	0	ZMYM4	35625653	0.999000	0.42202	1.000000	0.80357	0.954000	0.61252	0.858000	0.27845	2.021000	0.59480	0.533000	0.62120	TCA		0.294	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		C	35853066	T	C	35853066	2	2	495	1	0	0	0	0	0	0	0	1	17707	1780	62	3		3	ZMYM4	1	35853066	Silent	SNP	T	TCGA-CJ-4643-01A-02D-1386-10		35853066	213397555	1	26705											
ZNF643	65243	broad.mit.edu	37	1	40922615	40922616	+	Splice_Site	DEL	AG	AG	-			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr1:40922615_40922616delAG	ENST00000411995.2	+	4	588		c.e4-1		ZFP69B_ENST00000361584.3_Splice_Site|ZFP69B_ENST00000484445.1_Splice_Site	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTGATGTTCTAGGAACTGTTAA	0.485																																																0																																										SO:0001630	splice_region_variant	0			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.214-1AG>-	1.37:g.40922615_40922616delAG			Q5QPL4	Splice_Site	DEL	ENST00000411995.2	37	CCDS452.2																																																																																				0.485	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070	Intron	-	40922616	AG	-	40922615	8	5	495	1	0	1	0	1	0	0	1	0	18064	434	15	0	222	0	ZNF643	1	40922615	Splice_Site	DEL	AG	TCGA-CJ-4643-01A-02D-1386-10	5069549	40922615	208328006	2	26706											
SLC6A17	388662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110709686	110709686	+	Silent	SNP	C	C	T	rs201199061		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr1:110709686C>T	ENST00000331565.4	+	2	620	c.135C>T	c.(133-135)ggC>ggT	p.G45G	RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	45					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTGAGGCAGGCGGCAAGCAGA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		14440	0.001		0.0	False		,,,				2504	0.0															0													63	51	55					1																	110709686		2203	4300	6503	SO:0001819	synonymous_variant	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.135C>T	1.37:g.110709686C>T			A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	CCDS30799.1																																																																																				0.607	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		T	110709686	C	T	110709686	2	4	495	1	0	0	0	0	0	0	0	1	14686	755	27	1		1	SLC6A17	1	110709686	Silent	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	69787071	110709686	138540935	3	26707											
NBPF10	100132406	broad.mit.edu	37	1	145301802	145301802	+	Silent	SNP	C	C	G	rs6690575	byFrequency	TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr1:145301802C>G	ENST00000369339.3	+	4	511	c.258C>G	c.(256-258)ctC>ctG	p.L86L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L357L|NBPF10_ENST00000369338.1_Silent_p.L86L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	357						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L86L(1)|p.L357L(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGAGCAGCTCAAGCAAGCTG	0.522																																																2	Substitution - coding silent(2)	NS(2)																																								SO:0001819	synonymous_variant	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.258C>G	1.37:g.145301802C>G			Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37																																																																																					0.522	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		G	145301802	C	G	145301802	2	3	495	1	0	0	0	0	0	0	0	1	10195	813	29	4		4	NBPF10	1	145301802	Silent	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	34592116	145301802	103948819	4	26708											
BCAN	63827	broad.mit.edu;hgsc.bcm.edu	37	1	156622274	156622274	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr1:156622274C>G	ENST00000329117.5	+	8	1868	c.1532C>G	c.(1531-1533)gCa>gGa	p.A511G	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.A511G	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	511					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGCGCCAGCAAGGGCAGTC	0.652																																																0													17	16	17					1																	156622274		2202	4298	6500	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1532C>G	1.37:g.156622274C>G	ENSP00000331210:p.Ala511Gly		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	1.559	-0.537211	0.04082	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.15718	2.4;3.0	4.37	3.39	0.38822	.	0.602886	0.14076	N	0.343027	T	0.03390	0.0098	L	0.29908	0.895	0.09310	N	1	P;B	0.40250	0.709;0.075	B;B	0.34093	0.175;0.027	T	0.34925	-0.9809	10	0.25106	T	0.35	-4.9531	7.6999	0.28617	0.0:0.8755:0.0:0.1245	.	511;511	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	G	450;511;511	ENSP00000331210:A511G;ENSP00000354925:A511G	ENSP00000255029:A450G	A	+	2	0	BCAN	154888898	0.001000	0.12720	0.026000	0.17262	0.029000	0.11900	0.847000	0.27696	0.946000	0.37632	0.455000	0.32223	GCA		0.652	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		G	156622274	C	G	156622274	3	3	495	1	0	0	0	0	1	0	0	0	1345	710	25	4	1558	4	BCAN	1	156622274	Missense_Mutation	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	11320472	156622274	92628347	5	26709											
RPS6KC1	26750	broad.mit.edu;ucsc.edu	37	1	213415458	213415458	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr1:213415458A>G	ENST00000366960.3	+	11	2789	c.2639A>G	c.(2638-2640)aAg>aGg	p.K880R	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.K583R|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.K668R|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.K868R	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	880	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAAGGAGACAAGGAAATACAT	0.418																																																0													110	113	112					1																	213415458		2203	4300	6503	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2639A>G	1.37:g.213415458A>G	ENSP00000355927:p.Lys880Arg		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889034	0.52014	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.44482	1.38;1.4;1.41;0.92	5.91	3.62	0.41486	Serine/threonine-protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100013	0.64402	D	0.000002	T	0.38427	0.1040	L	0.31578	0.945	0.46241	D	0.998942	P;P;P	0.50272	0.918;0.933;0.868	P;P;P	0.51516	0.555;0.672;0.596	T	0.06356	-1.0831	10	0.36615	T	0.2	-16.3804	8.9974	0.36061	0.7941:0.0:0.2059:0.0	.	668;880;868	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	R	668;880;868;583	ENSP00000442306:K668R;ENSP00000355927:K880R;ENSP00000355926:K868R;ENSP00000439282:K583R	ENSP00000355926:K868R	K	+	2	0	RPS6KC1	211482081	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.245000	0.58734	0.509000	0.28195	0.533000	0.62120	AAG		0.418	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		G	213415458	A	G	213415458	3	3	495	1	0	0	0	0	1	0	0	0	13664	72	3	3	2681	3	RPS6KC1	1	213415458	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	56793184	213415458	35835163	6	26710											
ACTN2	88	broad.mit.edu;ucsc.edu	37	1	236911030	236911030	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr1:236911030G>T	ENST00000366578.4	+	13	1636	c.1470G>T	c.(1468-1470)tgG>tgT	p.W490C	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.W490C	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	490					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTGACCAGTGGGACCGACTGG	0.398																																																0													48	51	50					1																	236911030		2203	4300	6503	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1470G>T	1.37:g.236911030G>T	ENSP00000355537:p.Trp490Cys		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819893	0.90873	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.68903	-0.36;-0.36	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.87830	0.6276	H	0.94847	3.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.995;1.0;1.0;0.998	D	0.90184	0.4245	10	0.87932	D	0	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	275;490;260;490	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	C	490;490;259	ENSP00000443495:W490C;ENSP00000355537:W490C	ENSP00000355537:W490C	W	+	3	0	ACTN2	234977653	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.760000	0.98935	2.854000	0.98071	0.655000	0.94253	TGG		0.398	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		T	236911030	G	T	236911030	3	4	495	1	0	0	0	0	1	0	0	0	205	1241	43	4	1520	4	ACTN2	1	236911030	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	23495572	236911030	12339591	7	26711											
RHOQ	23433	broad.mit.edu	37	2	46803262	46803262	+	Missense_Mutation	SNP	A	A	G	rs557488131		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr2:46803262A>G	ENST00000238738.4	+	3	557	c.238A>G	c.(238-240)Atg>Gtg	p.M80V	RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000465198.1_3'UTR	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	80					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)	p.M80V(1)		skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ATCTTACCCAATGACCGATGT	0.393													A|||	1	0.000199681	0.0	0.0	5008	,	,		18452	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	endometrium(1)											99	89	92					2																	46803262		2203	4300	6503	SO:0001583	missense	23433			M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"RAS-like, family 7, member A", "ras homolog gene family, member Q"	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.238A>G	2.37:g.46803262A>G	ENSP00000238738:p.Met80Val		D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	37	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367334	0.41902	.	.	ENSG00000119729	ENST00000238738;ENST00000482449	T;T	0.76186	-1.0;3.4	5.43	4.26	0.50523	Small GTP-binding protein domain (1);	0.034638	0.85682	D	0.000000	T	0.65637	0.2710	L	0.38175	1.15	0.58432	D	0.99999	B	0.15141	0.012	B	0.12156	0.007	T	0.63202	-0.6690	10	0.87932	D	0	.	12.6767	0.56897	0.862:0.1379:0.0:0.0	.	80	P17081	RHOQ_HUMAN	V	80;1	ENSP00000238738:M80V;ENSP00000428006:M1V	ENSP00000238738:M80V	M	+	1	0	RHOQ	46656766	1.000000	0.71417	0.993000	0.49108	0.882000	0.50991	7.317000	0.79018	1.055000	0.40461	-0.316000	0.08728	ATG		0.393	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		G	46803262	A	G	46803262	3	3	495	1	0	0	0	0	1	0	0	0	13348	101	4	3	248	3	RHOQ	2	46803262	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10		46803262	196396111	8	26712											
OTX1	5013	broad.mit.edu;hgsc.bcm.edu	37	2	63283088	63283088	+	Silent	SNP	C	C	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr2:63283088C>A	ENST00000282549.2	+	5	978	c.702C>A	c.(700-702)ggC>ggA	p.G234G	OTX1_ENST00000366671.3_Silent_p.G234G	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	234					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACGGCCAAGGCTACCCTACGC	0.647																																																0													62	60	60					2																	63283088		2203	4300	6503	SO:0001819	synonymous_variant	5013				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.702C>A	2.37:g.63283088C>A			A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	CCDS1873.1																																																																																				0.647	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			A	63283088	C	A	63283088	2	1	495	1	0	0	0	0	0	0	0	1	11322	784	28	4		4	OTX1	2	63283088	Silent	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	16479826	63283088	179916285	9	26713											
CCDC74A	90557	broad.mit.edu;hgsc.bcm.edu	37	2	132285695	132285695	+	Missense_Mutation	SNP	T	T	G	rs371462524		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr2:132285695T>G	ENST00000295171.6	+	1	290	c.152T>G	c.(151-153)cTg>cGg	p.L51R	CCDC74A_ENST00000467992.2_5'Flank|CCDC74A_ENST00000409856.3_Missense_Mutation_p.L51R|CCDC74A_ENST00000478665.1_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	51										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AAACGGAACCTGGACCTGGAG	0.652																																																0													44	42	43					2																	132285695		2203	4299	6502	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.152T>G	2.37:g.132285695T>G	ENSP00000295171:p.Leu51Arg		Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	16.33	3.092385	0.55968	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.38722	1.12;1.12	2.79	2.79	0.32731	.	0.536140	0.14692	U	0.304073	T	0.55449	0.1921	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.991	D;D;D	0.85130	0.934;0.997;0.955	T	0.47598	-0.9105	10	0.30854	T	0.27	-3.9273	8.821	0.35025	0.0:0.0:0.0:1.0	.	51;51;51	B4DZ94;Q96AQ1-2;Q96AQ1	.;.;CC74A_HUMAN	R	51	ENSP00000295171:L51R;ENSP00000387009:L51R	ENSP00000295171:L51R	L	+	2	0	CCDC74A	132002165	0.996000	0.38824	0.982000	0.44146	0.450000	0.32258	3.145000	0.50623	0.926000	0.37118	0.113000	0.15668	CTG		0.652	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		G	132285695	T	G	132285695	3	3	495	1	0	0	0	0	1	0	0	0	2849	1580	55	5	154	5	CCDC74A	2	132285695	Missense_Mutation	SNP	T	TCGA-CJ-4643-01A-02D-1386-10	69002607	132285695	110913678	10	26714											
IRS1	3667	broad.mit.edu	37	2	227660037	227660037	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr2:227660037G>A	ENST00000305123.5	-	1	4438	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1140					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAGCTGTGGCGTTTCACATCC	0.647																																																0													41	44	43					2																	227660037		2203	4300	6503	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3418C>T	2.37:g.227660037G>A	ENSP00000304895:p.Arg1140Cys			Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226478	0.79576	.	.	ENSG00000169047	ENST00000305123	T	0.62788	0.0	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000003	T	0.61324	0.2338	L	0.59436	1.845	0.58432	D	0.999999	D	0.61697	0.99	B	0.43623	0.425	T	0.66984	-0.5785	10	0.66056	D	0.02	-22.8699	14.5185	0.67835	0.0:0.0:0.8533:0.1467	.	1140	P35568	IRS1_HUMAN	C	1140	ENSP00000304895:R1140C	ENSP00000304895:R1140C	R	-	1	0	IRS1	227368281	0.769000	0.28531	0.996000	0.52242	0.924000	0.55760	1.018000	0.30002	2.733000	0.93635	0.655000	0.94253	CGC		0.647	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		A	227660037	G	A	227660037	3	1	495	1	0	0	0	0	1	0	0	0	7842	1145	40	1	314	1	IRS1	2	227660037	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	95374342	227660037	15539336	11	26715											
PER2	8864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	239186456	239186456	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr2:239186456T>C	ENST00000254657.3	-	2	401	c.122A>G	c.(121-123)cAt>cGt	p.H41R	PER2_ENST00000355768.2_Missense_Mutation_p.H41R|PER2_ENST00000254658.3_Missense_Mutation_p.H41R|PER2_ENST00000440245.1_Missense_Mutation_p.H41R	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	41					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GTTGGTCTCATGTCCACTGGA	0.652																																																0													69	66	67					2																	239186456		2203	4300	6503	SO:0001583	missense	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.122A>G	2.37:g.239186456T>C	ENSP00000254657:p.His41Arg		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	T	8.143	0.785554	0.16189	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832	T;T;T;T;T	0.42513	2.93;1.0;2.03;1.0;0.97	4.68	4.68	0.58851	.	0.364872	0.30374	N	0.009768	T	0.23846	0.0577	N	0.08118	0	0.21064	N	0.999792	B;B;P;B	0.35226	0.152;0.033;0.491;0.058	B;B;B;B	0.32465	0.08;0.01;0.146;0.03	T	0.24440	-1.0160	10	0.87932	D	0	-19.4281	12.4123	0.55473	0.0:0.0:0.0:1.0	.	41;41;41;41	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	R	41	ENSP00000254657:H41R;ENSP00000254658:H41R;ENSP00000397516:H41R;ENSP00000348013:H41R;ENSP00000405891:H41R	ENSP00000254657:H41R	H	-	2	0	PER2	238851195	0.912000	0.30974	0.170000	0.22879	0.047000	0.14425	2.195000	0.42677	1.881000	0.54492	0.460000	0.39030	CAT		0.652	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		C	239186456	T	C	239186456	3	2	495	1	0	0	0	0	1	0	0	0	11732	1464	51	3	3733	3	PER2	2	239186456	Missense_Mutation	SNP	T	TCGA-CJ-4643-01A-02D-1386-10	11526419	239186456	4012917	12	26716											
PRR21	643905	hgsc.bcm.edu	37	2	240982219	240982219	+	Missense_Mutation	SNP	A	A	G	rs74006013		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr2:240982219A>G	ENST00000408934.1	-	1	180	c.181T>C	c.(181-183)Tcc>Ccc	p.S61P		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	61	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGAGCCGTGGATGAAGGGCCG	0.607																																																0													130	115	120					2																	240982219		2203	4300	6503	SO:0001583	missense	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.181T>C	2.37:g.240982219A>G	ENSP00000386166:p.Ser61Pro			Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	N	6.168	0.399216	0.11696	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.26223	1.75;1.75	1.5	-2.16	0.07080	.	.	.	.	.	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.17722	0.019	T	0.25293	-1.0136	9	0.54805	T	0.06	.	2.7666	0.05322	0.3479:0.0:0.4377:0.2145	.	61	Q8WXC7	PRR21_HUMAN	P	61	ENSP00000386166:S61P;ENSP00000418240:S61P	ENSP00000386166:S61P	S	-	1	0	PRR21	240630892	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.540000	0.00437	-0.607000	0.05738	-0.484000	0.04775	TCC		0.607	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982219	A	G	240982219	3	3	495	1	0	0	0	0	1	0	0	0	12597	333	12	3	991	3	PRR21	2	240982219	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	1795763	240982219	2217154	13	26717											
RUVBL1	8607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	127816145	127816145	+	Silent	SNP	G	G	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr3:127816145G>T	ENST00000322623.5	-	8	1113	c.1014C>A	c.(1012-1014)atC>atA	p.I338I	RUVBL1_ENST00000464873.1_Silent_p.I278I|RUVBL1_ENST00000417360.1_Silent_p.I338I	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	338					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CATCCTACCTGATGACACAGT	0.537																																																0													53	54	53					3																	127816145		2203	4300	6503	SO:0001819	synonymous_variant	8607			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"INO80 complex subunits", "ATPases / AAA-type"	10474	protein-coding gene	gene with protein product	"pontin", "INO80 complex subunit H"	603449	"RuvB (E coli homolog)-like 1", "RuvB-like 1 (E. coli)", "RuvB-like AAA ATPase"			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.1014C>A	3.37:g.127816145G>T			B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Silent	SNP	ENST00000322623.5	37	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555061	0.45487	.	.	ENSG00000175792	ENST00000472125	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	T	0.64427	0.2597	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62539	-0.6833	4	.	.	.	-9.824	12.3546	0.55167	0.0771:0.0:0.9229:0.0	.	.	.	.	K	158	.	.	Q	-	1	0	RUVBL1	129298835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.067000	0.64357	2.476000	0.83614	0.591000	0.81541	CAG		0.537	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			T	127816145	G	T	127816145	2	4	495	1	0	0	0	0	0	0	0	1	13758	1280	45	4		4	RUVBL1	3	127816145	Silent	SNP	G	TCGA-CJ-4643-01A-02D-1386-10		127816145	70206285	14	26718											
ESYT3	83850	hgsc.bcm.edu;ucsc.edu	37	3	138170931	138170942	+	Splice_Site	DEL	GGTAAGGCCGCT	GGTAAGGCCGCT	-			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	GGTAAGGCCGCT	GGTAAGGCCGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr3:138170931_138170942delGGTAAGGCCGCT	ENST00000389567.4	+	2	555	c.369delGGTAAGGCCGCT	c.(367-369)aag>aa	p.K123del	ESYT3_ENST00000289135.4_Splice_Site_p.K123del	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	123	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGGCCAACAAGGTAAGGCCGCTGGCAGGGCCT	0.656																																																0																																										SO:0001630	splice_region_variant	83850			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.369+1GGTAAGGCCGCT>-	3.37:g.138170931_138170942delGGTAAGGCCGCT			A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Frame_Shift_Del	DEL	ENST00000389567.4	37	CCDS3101.2																																																																																				0.656	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	In_Frame_Del	-	138170942	GGTAAGGCCGCT	-	138170931	8	5	495	1	0	1	0	1	0	0	1	0	5268	1014	35	0	375	0	ESYT3	3	138170931	Splice_Site	DEL	GGTAAGGCCGCT	TCGA-CJ-4643-01A-02D-1386-10	10354786	138170931	59851499	15	26719											
PLCH1	23007	broad.mit.edu;ucsc.edu	37	3	155199834	155199834	+	Silent	SNP	A	A	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr3:155199834A>G	ENST00000340059.7	-	23	4004	c.4005T>C	c.(4003-4005)tcT>tcC	p.S1335S	PLCH1_ENST00000460012.1_Silent_p.S1297S|PLCH1_ENST00000414191.1_Silent_p.S1297S|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.S1297S|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1335					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATCAGGGGAAGAGGCAGGGC	0.498																																																0													54	58	57					3																	155199834		2203	4300	6503	SO:0001819	synonymous_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4005T>C	3.37:g.155199834A>G			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	CCDS46939.1																																																																																				0.498	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		G	155199834	A	G	155199834	2	3	495	1	0	0	0	0	0	0	0	1	12039	59	3	3		3	PLCH1	3	155199834	Silent	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	17028903	155199834	42822596	16	26720											
KLHL6	89857	broad.mit.edu;hgsc.bcm.edu	37	3	183217550	183217550	+	Silent	SNP	G	G	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr3:183217550G>T	ENST00000341319.3	-	4	1010	c.975C>A	c.(973-975)ggC>ggA	p.G325G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	325					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)			TCGTGCAGCCGCCAATGATCA	0.582																																																0													76	63	67					3																	183217550		2203	4300	6503	SO:0001819	synonymous_variant	89857			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.975C>A	3.37:g.183217550G>T			B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	CCDS3245.2																																																																																				0.582	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		T	183217550	G	T	183217550	2	4	495	1	0	0	0	0	0	0	0	1	8395	1074	38	4		4	KLHL6	3	183217550	Silent	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	28017716	183217550	14804880	17	26721											
N4BP2	55728	broad.mit.edu	37	4	40121716	40121716	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr4:40121716delG	ENST00000261435.6	+	9	2401	c.1985delG	c.(1984-1986)agafs	p.R662fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	662					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AACAAAAGAAGAAAAGAAATA	0.338																																																0													57	66	63					4																	40121716		2202	4298	6500	SO:0001589	frameshift_variant	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1985delG	4.37:g.40121716delG	ENSP00000261435:p.Arg662fs		A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Del	DEL	ENST00000261435.6	37	CCDS3457.1																																																																																				0.338	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		-	40121716	G	-	40121716	7	5	495	1	0	1	0	1	0	0	0	0	10112	942	33	0	2011	0	N4BP2	4	40121716	Frame_Shift_Del	DEL	G	TCGA-CJ-4643-01A-02D-1386-10		40121716	151032560	18	26722											
HLA-C	3107	hgsc.bcm.edu	37	6	31237802	31237802	+	Missense_Mutation	SNP	A	A	G	rs1050147	byFrequency	TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr6:31237802A>G	ENST00000376228.5	-	5	970	c.956T>C	c.(955-957)gTt>gCt	p.V319A	HLA-C_ENST00000383329.3_Missense_Mutation_p.V319A	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	325					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						AGCTAGGACAACCAGGACAGC	0.597																																																0								G	ALA/VAL	3060,1334		1314,432,451	46	47	47		956	-0.2	0	6	dbSNP_123	47	5060,3518		1977,1106,1206	yes	missense	HLA-C	NM_002117.5	64	3291,1538,1657	GG,GA,AA		41.0119,30.3596,37.4036	benign	319/367	31237802	8120,4852	2197	4289	6486	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.956T>C	6.37:g.31237802A>G	ENSP00000365402:p.Val319Ala		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	1682	0.7701465201465202	392	0.7967479674796748	291	0.8038674033149171	456	0.7972027972027972	543	0.716358839050132	.	0.012	-1.691464	0.00731	0.696404	0.589881	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00958	5.52;5.5	0.109	-0.218	0.13142	.	0.672928	0.11860	N	0.522519	T	0.00178	0.0005	.	.	.	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.43925	-0.9361	7	0.21540	T	0.41	.	.	.	.	rs17413387;rs35376379;rs41553619	319;319;319;319	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	A	319;319;319;356	ENSP00000365402:V319A;ENSP00000372819:V319A	ENSP00000365402:V319A	V	-	2	0	HLA-C	31345781	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.742000	0.01835	-2.815000	0.00346	-2.811000	0.00111	GTT		0.597	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		G	31237802	A	G	31237802	3	3	495	1	0	0	0	0	1	0	0	0	7199	43	2	3	160	3	HLA-C	6	31237802	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10		31237802	139877265	19	26723											
ASCC3	10973	broad.mit.edu	37	6	100966004	100966005	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr6:100966004_100966005delCA	ENST00000369162.2	-	38	6133_6134	c.5789_5790delTG	c.(5788-5790)gtgfs	p.V1930fs		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1930	SEC63 2.		V -> M (in dbSNP:rs3213542).		cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGTTTGCAGCCACGTCCAGCAT	0.465																																																0																																										SO:0001589	frameshift_variant	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5789_5790delTG	6.37:g.100966004_100966005delCA	ENSP00000358159:p.Val1930fs		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Frame_Shift_Del	DEL	ENST00000369162.2	37	CCDS5046.1																																																																																				0.465	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		-	100966005	CA	-	100966004	7	5	495	1	0	1	0	1	0	0	0	0	1033	581	21	0	838	0	ASCC3	6	100966004	Frame_Shift_Del	DEL	CA	TCGA-CJ-4643-01A-02D-1386-10	69728202	100966004	70149063	20	26724											
AVL9	23080	broad.mit.edu	37	7	32615623	32615623	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr7:32615623A>G	ENST00000318709.4	+	13	1848	c.1627A>G	c.(1627-1629)Act>Gct	p.T543A	AVL9_ENST00000409301.1_Missense_Mutation_p.T543A|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	543					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ATGGAAGAATACTCACAACTA	0.403																																																0													168	158	162					7																	32615623		2203	4300	6503	SO:0001583	missense	23080			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1627A>G	7.37:g.32615623A>G	ENSP00000315568:p.Thr543Ala		Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.884872	0.91814	.	.	ENSG00000105778	ENST00000318709;ENST00000409301	T;T	0.70399	-0.48;-0.35	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.81497	2.545	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.86851	0.2023	10	0.87932	D	0	-22.1025	16.0234	0.80516	1.0:0.0:0.0:0.0	.	543	Q8NBF6	AVL9_HUMAN	A	543	ENSP00000315568:T543A;ENSP00000387011:T543A	ENSP00000315568:T543A	T	+	1	0	AVL9	32582148	1.000000	0.71417	0.954000	0.39281	0.986000	0.74619	7.092000	0.76930	2.172000	0.68678	0.533000	0.62120	ACT		0.403	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		G	32615623	A	G	32615623	3	3	495	1	0	0	0	0	1	0	0	0	1228	391	14	3	1677	3	AVL9	7	32615623	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10		32615623	126523040	21	26725											
PTCD1	26024	broad.mit.edu;hgsc.bcm.edu	37	7	99022964	99022964	+	Silent	SNP	C	C	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr7:99022964C>T	ENST00000292478.4	-	6	1441	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.G446G|PTCD1_ENST00000555673.1_Silent_p.G446G	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	397					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCTCTGGAGGCCCAAGTGCCT	0.642																																																0													86	85	85					7																	99022964		2203	4300	6503	SO:0001819	synonymous_variant	26024			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1191G>A	7.37:g.99022964C>T			Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	37	CCDS34691.1																																																																																				0.642	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		T	99022964	C	T	99022964	2	4	495	1	0	0	0	0	0	0	0	1	12732	726	26	2		2	PTCD1	7	99022964	Silent	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	66407341	99022964	60115699	22	26726											
MUC17	140453	hgsc.bcm.edu	37	7	100684091	100684092	+	Frame_Shift_Ins	INS	-	-	C	rs368858885		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr7:100684091_100684092insC	ENST00000306151.4	+	3	9458_9459	c.9394_9395insC	c.(9394-9396)accfs	p.T3132fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3132	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTGTTGACACCAGCACACCT	0.49																																																0																																										SO:0001589	frameshift_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9396dupC	7.37:g.100684093_100684093dupC	ENSP00000302716:p.Thr3132fs		O14761|Q685J2|Q8TDH7	Frame_Shift_Ins	INS	ENST00000306151.4	37	CCDS34711.1																																																																																				0.49	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		C	100684092	-	C	100684091	7	5	495	1	0	1	1	0	0	0	0	0	9976	159	6	0	9404	0	MUC17	7	100684091	Frame_Shift_Ins	INS	-	TCGA-CJ-4643-01A-02D-1386-10	1661127	100684091	58454572	23	26727											
ARMC10	83787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	102716238	102716238	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr7:102716238G>T	ENST00000323716.3	+	2	546	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W	ARMC10_ENST00000441711.2_Intron|ARMC10_ENST00000541300.1_Intron|FBXL13_ENST00000379306.3_5'Flank|ARMC10_ENST00000454559.1_Intron|FBXL13_ENST00000379305.3_5'Flank|FBXL13_ENST00000313221.4_5'Flank|FBXL13_ENST00000455112.2_5'Flank|FBXL13_ENST00000456695.1_5'Flank|FBXL13_ENST00000393772.2_5'Flank|FBXL13_ENST00000471074.1_5'Flank|ARMC10_ENST00000428183.2_Missense_Mutation_p.G52W|ARMC10_ENST00000425331.1_Intron|FBXL13_ENST00000379308.3_5'Flank	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	52					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCTGGAAGAAGGGACGTCAGA	0.602																																																0													50	48	49					7																	102716238		2203	4300	6503	SO:0001583	missense	83787			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"Armadillo repeat containing"	21706	protein-coding gene	gene with protein product	"specific Splicing Variant involved in Hepatocarcinogenesis"	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.154G>T	7.37:g.102716238G>T	ENSP00000319412:p.Gly52Trp		A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP	ENST00000323716.3	37	CCDS5728.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762288	0.49468	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000434153	T;T	0.47177	0.89;0.85	2.97	-2.15	0.07102	.	1.523220	0.05183	U	0.501709	T	0.38161	0.1030	L	0.51422	1.61	0.09310	N	0.999998	B;B	0.14805	0.011;0.001	B;B	0.12837	0.008;0.001	T	0.35001	-0.9806	10	0.66056	D	0.02	5.7206	2.5104	0.04655	0.3327:0.0:0.2999:0.3674	.	52;52	Q8N2F6-3;Q8N2F6	.;ARM10_HUMAN	W	52	ENSP00000319412:G52W;ENSP00000398201:G52W	ENSP00000319412:G52W	G	+	1	0	ARMC10	102503474	0.000000	0.05858	0.000000	0.03702	0.275000	0.26752	-0.566000	0.05922	-0.552000	0.06167	0.591000	0.81541	GGG		0.602	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905		T	102716238	G	T	102716238	3	4	495	1	0	0	0	0	1	0	0	0	950	1000	35	4	160	4	ARMC10	7	102716238	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	2032147	102716238	56422425	24	26728											
KCND2	3751	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	119915314	119915314	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr7:119915314G>A	ENST00000331113.4	+	1	1593	c.628G>A	c.(628-630)Gga>Aga	p.G210R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	210					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGTGCCGTGCGGATCAAGCCC	0.547																																																0													116	106	110					7																	119915314		2203	4300	6503	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.628G>A	7.37:g.119915314G>A	ENSP00000333496:p.Gly210Arg		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938175	0.34189	.	.	ENSG00000184408	ENST00000331113	D	0.96745	-4.11	5.58	5.58	0.84498	.	0.060515	0.64402	N	0.000004	D	0.95818	0.8639	M	0.78285	2.405	0.80722	D	1	B	0.18863	0.031	B	0.12837	0.008	D	0.93260	0.6642	9	.	.	.	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	210	Q9NZV8	KCND2_HUMAN	R	210	ENSP00000333496:G210R	.	G	+	1	0	KCND2	119702550	1.000000	0.71417	0.951000	0.38953	0.289000	0.27227	7.876000	0.87215	2.641000	0.89580	0.563000	0.77884	GGA		0.547	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		A	119915314	G	A	119915314	3	1	495	1	0	0	0	0	1	0	0	0	8021	1117	39	1	630	1	KCND2	7	119915314	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	17199076	119915314	39223349	25	26729											
RBM33	155435	broad.mit.edu	37	7	155473566	155473567	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr7:155473566_155473567delAG	ENST00000401878.3	+	5	729_730	c.531_532delAG	c.(529-534)ttagacfs	p.D178fs	RBM33_ENST00000287912.3_Frame_Shift_Del_p.D178fs|RBM33_ENST00000392759.3_Frame_Shift_Del_p.D178fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	178	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATGAAGTGTTAGACATCGAGAT	0.431																																																0																																										SO:0001589	frameshift_variant	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.531_532delAG	7.37:g.155473566_155473567delAG	ENSP00000384160:p.Asp178fs		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	CCDS5941.2																																																																																				0.431	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		-	155473567	AG	-	155473566	7	5	495	1	0	1	0	1	0	0	0	0	13136	417	15	0	549	0	RBM33	7	155473566	Frame_Shift_Del	DEL	AG	TCGA-CJ-4643-01A-02D-1386-10	35558252	155473566	3665097	26	26730											
C9orf11	54586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	27296984	27296984	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr9:27296984T>C	ENST00000380032.3	-	1	153	c.70A>G	c.(70-72)Att>Gtt	p.I24V	EQTN_ENST00000484994.1_5'Flank|EQTN_ENST00000537675.1_Missense_Mutation_p.I24V|EQTN_ENST00000380031.1_Missense_Mutation_p.I24V	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	24					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											TCACCTTCAATAGTAGGCTTC	0.308																																																0													26	27	27					9																	27296984		2195	4295	6490	SO:0001583	missense	0			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"Acr formation associated factor", "Acrosome formation associated factor", "sperm acrosome associated 8"		"chromosome 9 open reading frame 11", "equatorin"	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.70A>G	9.37:g.27296984T>C	ENSP00000369371:p.Ile24Val		B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	ENST00000380032.3	37	CCDS35001.1	.	.	.	.	.	.	.	.	.	.	T	0.667	-0.803598	0.02841	.	.	ENSG00000120160	ENST00000537675;ENST00000380032;ENST00000380031	T;T;T	0.28666	1.6;2.02;1.62	4.46	-8.93	0.00771	.	2.197700	0.01803	N	0.033005	T	0.10165	0.0249	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.23154	-1.0196	10	0.02654	T	1	.	4.6669	0.12670	0.2228:0.4711:0.1885:0.1176	.	24;24;24	B7ZMK1;Q9NQ60-2;Q9NQ60	.;.;AFAF_HUMAN	V	24	ENSP00000441630:I24V;ENSP00000369371:I24V;ENSP00000369370:I24V	ENSP00000369370:I24V	I	-	1	0	C9orf11	27286984	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.801000	0.00363	-2.969000	0.00287	-0.274000	0.10170	ATT		0.308	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		C	27296984	T	C	27296984	3	2	495	1	0	0	0	0	1	0	0	0	2450	1406	49	3	846	3	C9orf11	9	27296984	Missense_Mutation	SNP	T	TCGA-CJ-4643-01A-02D-1386-10		27296984	113916447	27	26731											
AQP7	364	hgsc.bcm.edu	37	9	33385784	33385784	+	Missense_Mutation	SNP	C	C	G	rs114937176		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr9:33385784C>G	ENST00000537089.1	-	6	648	c.330G>C	c.(328-330)gaG>gaC	p.E110D	AQP7_ENST00000377425.4_Missense_Mutation_p.E145D|AQP7_ENST00000539936.1_Missense_Mutation_p.E202D|AQP7_ENST00000541274.1_Missense_Mutation_p.G71R			O14520	AQP7_HUMAN	aquaporin 7	202					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCACCAGCGCCTCTGTTCCTG	0.617																																																0													112	101	105					9																	33385784		2203	4300	6503	SO:0001583	missense	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.330G>C	9.37:g.33385784C>G	ENSP00000441619:p.Glu110Asp		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.02|11.02	1.516950|1.516950	0.27123|0.27123	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503|ENST00000541274	D;D;D;D;D;D;D;D;D|T	0.85258|0.59083	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96|0.29	5.02|5.02	0.853|0.853	0.19001|0.19001	Aquaporin-like (2);|.	0.285780|.	0.38326|.	N|.	0.001735|.	T|T	0.34600|0.34600	0.0903|0.0903	N|N	0.25201|0.25201	0.72|0.72	0.35300|0.35300	P|P	0.21709|0.21709	B;B;B;B|B	0.23377|0.30406	0.044;0.005;0.084;0.084|0.278	B;B;B;B|B	0.34779|0.24155	0.107;0.063;0.189;0.189|0.051	T|T	0.38045|0.38045	-0.9679|-0.9679	9|8	0.62326|0.87932	D|D	0.03|0	-2.4877|-2.4877	1.0491|1.0491	0.01576|0.01576	0.3087:0.3628:0.1501:0.1784|0.3087:0.3628:0.1501:0.1784	.|.	201;202;145;202|71	Q5T5M0;B7Z4U2;Q6P5T0;O14520|B7Z7F6	.;.;.;AQP7_HUMAN|.	D|R	110;201;70;202;145;110;201;202;138|71	ENSP00000441619:E110D;ENSP00000368821:E201D;ENSP00000412868:E70D;ENSP00000297988:E202D;ENSP00000396111:E145D;ENSP00000410138:E110D;ENSP00000368820:E201D;ENSP00000439534:E202D;ENSP00000368817:E138D|ENSP00000438860:G71R	ENSP00000297988:E202D|ENSP00000438860:G71R	E|G	-|-	3|1	2|0	AQP7|AQP7	33375784|33375784	0.949000|0.949000	0.32298|0.32298	0.992000|0.992000	0.48379|0.48379	0.191000|0.191000	0.23601|0.23601	0.131000|0.131000	0.15870|0.15870	0.663000|0.663000	0.31027|0.31027	0.645000|0.645000	0.84053|0.84053	GAG|GGC		0.617	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		G	33385784	C	G	33385784	3	3	495	1	0	0	0	0	1	0	0	0	831	680	24	4	430	4	AQP7	9	33385784	Missense_Mutation	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	6088800	33385784	107827647	28	26732											
KIAA0368	23392	broad.mit.edu	37	9	114145539	114145539	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr9:114145539A>G	ENST00000338205.5	-	34	3974	c.3755T>C	c.(3754-3756)cTt>cCt	p.L1252P	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.L1430P			Q5VYK3	ECM29_HUMAN	KIAA0368	1258					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTTGTCCAGAAGGCAAGGCAG	0.498																																																0													61	63	62					9																	114145539		2035	4176	6211	SO:0001583	missense	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3755T>C	9.37:g.114145539A>G	ENSP00000339889:p.Leu1252Pro		O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	A	26.4	4.736486	0.89482	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.75050	-0.9	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88760	0.6524	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91015	0.4853	10	0.87932	D	0	.	16.1852	0.81946	1.0:0.0:0.0:0.0	.	727	B3KXF2	.	P	1252;1430;727	ENSP00000259335:L1430P	ENSP00000259335:L1430P	L	-	2	0	KIAA0368	113185360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.649000	0.91067	2.277000	0.76020	0.528000	0.53228	CTT		0.498	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		G	114145539	A	G	114145539	3	3	495	1	0	0	0	0	1	0	0	0	8173	72	3	3	1828	3	KIAA0368	9	114145539	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	80759755	114145539	27067892	29	26733											
SETX	23064	hgsc.bcm.edu;ucsc.edu	37	9	135210042	135210042	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr9:135210042delT	ENST00000224140.5	-	7	973	c.791delA	c.(790-792)aatfs	p.N264fs	SETX_ENST00000393220.1_Frame_Shift_Del_p.N264fs|SETX_ENST00000372169.2_Frame_Shift_Del_p.N264fs	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	264					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CATAAAATCATTTTGTTTGTC	0.373																																																0													177	146	156					9																	135210042		2203	4300	6503	SO:0001589	frameshift_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.791delA	9.37:g.135210042delT	ENSP00000224140:p.Asn264fs		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Frame_Shift_Del	DEL	ENST00000224140.5	37	CCDS6947.1																																																																																				0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		-	135210042	T	-	135210042	7	5	495	1	0	1	0	1	0	0	0	0	14147	1493	52	0	7322	0	SETX	9	135210042	Frame_Shift_Del	DEL	T	TCGA-CJ-4643-01A-02D-1386-10	21064503	135210042	6003389	30	26734											
MUC2	4583	hgsc.bcm.edu	37	11	1093135	1093135	+	Missense_Mutation	SNP	A	A	C	rs56080332		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr11:1093135A>C	ENST00000441003.2	+	30	4981	c.4954A>C	c.(4954-4956)Acg>Ccg	p.T1652P	MUC2_ENST00000359061.5_Missense_Mutation_p.T1619P|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	gaccccaaccacgacacccat	0.627																																																0													104	167	145					11																	1093135		1799	3362	5161	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4954A>C	11.37:g.1093135A>C	ENSP00000415183:p.Thr1652Pro		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	A	1.105	-0.659880	0.03454	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.08370	3.1;3.14	1.75	-3.51	0.04696	.	7739.210000	0.00166	N	0.000003	T	0.05914	0.0154	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34304	-0.9834	9	0.46703	T	0.11	.	3.4472	0.07484	0.5097:0.3224:0.0:0.1679	rs56080332	1652	E7EUV1	.	P	1652;1619	ENSP00000415183:T1652P;ENSP00000351956:T1619P	ENSP00000351956:T1619P	T	+	1	0	MUC2	1083135	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-2.830000	0.00744	-1.075000	0.03129	-1.890000	0.00535	ACG		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093135	A	C	1093135	3	2	495	1	0	0	0	0	1	0	0	0	9977	159	6	5	5072	5	MUC2	11	1093135	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10		1093135	133913381	31	26735											
KRTAP5-4	387267	hgsc.bcm.edu	37	11	1642703	1642703	+	Silent	SNP	A	A	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr11:1642703A>G	ENST00000399682.1	-	1	665	c.621T>C	c.(619-621)agT>agC	p.S207S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATTGCAGCAACTGGACTGGC	0.592																																																0													88	79	82					11																	1642703		692	1591	2283	SO:0001819	synonymous_variant	387267			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.621T>C	11.37:g.1642703A>G				Silent	SNP	ENST00000399682.1	37																																																																																					0.592	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		G	1642703	A	G	1642703	2	3	495	1	0	0	0	0	0	0	0	1	8565	40	2	3		3	KRTAP5-4	11	1642703	Silent	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	549568	1642703	133363813	32	26736											
HPS5	11234	broad.mit.edu;ucsc.edu	37	11	18327003	18327003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr11:18327003G>A	ENST00000349215.3	-	8	1139	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	HPS5_ENST00000531848.1_Nonsense_Mutation_p.Q174*|HPS5_ENST00000438420.2_Nonsense_Mutation_p.Q174*|HPS5_ENST00000396253.3_Nonsense_Mutation_p.Q174*	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	288					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GACAAAGACTGGGAGGATCCA	0.338									Hermansky-Pudlak syndrome																																							0													95	92	93					11																	18327003		2199	4293	6492	SO:0001587	stop_gained	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.862C>T	11.37:g.18327003G>A	ENSP00000265967:p.Gln288*		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Nonsense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	39	7.593815	0.98378	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	.	.	.	5.67	5.67	0.87782	.	0.161057	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.1236	0.93374	0.0:0.0:1.0:0.0	.	.	.	.	X	174;174;288;174	.	ENSP00000265967:Q288X	Q	-	1	0	HPS5	18283579	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.011000	0.76359	2.833000	0.97629	0.585000	0.79938	CAG		0.338	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		A	18327003	G	A	18327003	4	1	495	1	0	0	0	0	0	1	0	0	7344	1357	47	2	2591	2	HPS5	11	18327003	Nonsense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	16684300	18327003	116679513	33	26737											
LUZP2	338645	broad.mit.edu	37	11	25100121	25100121	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr11:25100121T>G	ENST00000336930.6	+	12	1024	c.958T>G	c.(958-960)Tct>Gct	p.S320A	LUZP2_ENST00000533227.1_Missense_Mutation_p.S234A			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	320						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCCTCCTTGCTCTGAATGTGA	0.333																																																0													77	82	80					11																	25100121		2203	4300	6503	SO:0001583	missense	338645			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.958T>G	11.37:g.25100121T>G	ENSP00000336817:p.Ser320Ala		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.071644	0.36566	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.44482	0.93;0.92	5.35	-0.73	0.11154	.	0.572428	0.17377	N	0.176439	T	0.19685	0.0473	N	0.14661	0.345	0.22292	N	0.999229	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.14309	-1.0477	10	0.25106	T	0.35	-4.6723	5.2814	0.15678	0.4198:0.0:0.1143:0.4659	.	234;320	E9PN53;Q86TE4	.;LUZP2_HUMAN	A	320;234	ENSP00000336817:S320A;ENSP00000432952:S234A	ENSP00000336817:S320A	S	+	1	0	LUZP2	25056697	0.862000	0.29867	0.999000	0.59377	0.989000	0.77384	-0.229000	0.09098	0.077000	0.16863	0.482000	0.46254	TCT		0.333	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		G	25100121	T	G	25100121	3	3	495	1	0	0	0	0	1	0	0	0	9089	1551	54	5	1004	5	LUZP2	11	25100121	Missense_Mutation	SNP	T	TCGA-CJ-4643-01A-02D-1386-10	6773118	25100121	109906395	34	26738											
TTC12	54970	broad.mit.edu;ucsc.edu	37	11	113205696	113205696	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr11:113205696A>C	ENST00000529221.1	+	8	618	c.513A>C	c.(511-513)gaA>gaC	p.E171D	TTC12_ENST00000483239.2_Missense_Mutation_p.E177D|TTC12_ENST00000393020.1_Missense_Mutation_p.E171D|TTC12_ENST00000314756.3_Missense_Mutation_p.E171D	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	171										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGTGTGATGAAAAATGCACAA	0.388																																																0													93	86	88					11																	113205696		2201	4296	6497	SO:0001583	missense	54970			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.513A>C	11.37:g.113205696A>C	ENSP00000433757:p.Glu171Asp		Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.113481	0.77210	.	.	ENSG00000149292	ENST00000529221;ENST00000442859;ENST00000531164;ENST00000529850;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T;T;T;T	0.74002	1.58;-0.8;-0.8;-0.8;1.58;1.58;1.58	5.33	-5.55	0.02536	Tetratricopeptide-like helical (1);Armadillo-type fold (1);Tetratricopeptide repeat-containing (1);	0.287665	0.37348	N	0.002132	T	0.64918	0.2642	N	0.17564	0.495	0.37863	D	0.929774	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	T	0.66976	-0.5787	10	0.48119	T	0.1	-16.4339	3.5002	0.07670	0.3885:0.1136:0.3874:0.1106	.	171;171	A8K8G6;Q9H892	.;TTC12_HUMAN	D	171;171;146;151;171;171;177	ENSP00000433757:E171D;ENSP00000400039:E171D;ENSP00000433916:E146D;ENSP00000431806:E151D;ENSP00000315160:E171D;ENSP00000376743:E171D;ENSP00000419652:E177D	ENSP00000315160:E171D	E	+	3	2	TTC12	112710906	0.778000	0.28640	0.909000	0.35828	0.988000	0.76386	-0.098000	0.11024	-0.992000	0.03472	-0.385000	0.06624	GAA		0.388	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		C	113205696	A	C	113205696	3	2	495	1	0	0	0	0	1	0	0	0	16684	11	1	5	539	5	TTC12	11	113205696	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	88105575	113205696	21800820	35	26739											
EPS8	2059	broad.mit.edu	37	12	15803929	15803929	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr12:15803929G>A	ENST00000281172.5	-	14	1698	c.1262C>T	c.(1261-1263)cCa>cTa	p.P421L	EPS8_ENST00000543612.1_Missense_Mutation_p.P421L|EPS8_ENST00000543523.1_Missense_Mutation_p.P421L|EPS8_ENST00000542903.1_Missense_Mutation_p.P161L|EPS8_ENST00000540613.1_Missense_Mutation_p.P161L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	421	Pro-rich.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTGTTCTTTTGGCCACTCTGC	0.433																																																0													104	103	103					12																	15803929		2203	4300	6503	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1262C>T	12.37:g.15803929G>A	ENSP00000281172:p.Pro421Leu		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306906	0.81247	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.08896	3.11;3.11;3.11;3.04;3.04	5.52	5.52	0.82312	.	0.052846	0.85682	D	0.000000	T	0.32763	0.0840	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.04140	-1.0974	10	0.87932	D	0	-11.7315	17.6108	0.88053	0.0:0.0:1.0:0.0	.	421	Q12929	EPS8_HUMAN	L	421;421;421;161;161;421	ENSP00000441867:P421L;ENSP00000281172:P421L;ENSP00000442388:P421L;ENSP00000441888:P161L;ENSP00000437806:P161L	ENSP00000281172:P421L	P	-	2	0	EPS8	15695196	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.223000	0.95203	2.579000	0.87056	0.650000	0.86243	CCA		0.433	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			A	15803929	G	A	15803929	3	1	495	1	0	0	0	0	1	0	0	0	5196	1348	47	2	1238	2	EPS8	12	15803929	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10		15803929	118047966	36	26740											
ATF1	466	broad.mit.edu	37	12	51213515	51213515	+	Frame_Shift_Del	DEL	G	G	-	rs565435031		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr12:51213515delG	ENST00000262053.3	+	7	791	c.769delG	c.(769-771)gaafs	p.E258fs	ATF1_ENST00000539132.1_Frame_Shift_Del_p.E123fs	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	258	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	AACTCTAATAGAAGAGTTAAA	0.318			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "																																		Dom	yes		12	12q13	466	activating transcription factor 1		"E, M"	0													32	35	34					12																	51213515		2203	4295	6498	SO:0001589	frameshift_variant	466			BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"basic leucine zipper proteins"	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.769delG	12.37:g.51213515delG	ENSP00000262053:p.Glu258fs		B4DRF9|P25168|Q9H4A8	Frame_Shift_Del	DEL	ENST00000262053.3	37	CCDS8803.1																																																																																				0.318	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		-	51213515	G	-	51213515	7	5	495	1	0	1	0	1	0	0	0	0	1079	943	33	0	791	0	ATF1	12	51213515	Frame_Shift_Del	DEL	G	TCGA-CJ-4643-01A-02D-1386-10	35409586	51213515	82638380	37	26741											
XPOT	11260	broad.mit.edu	37	12	64812710	64812710	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr12:64812710T>C	ENST00000332707.5	+	6	854	c.325T>C	c.(325-327)Ttc>Ctc	p.F109L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	109	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CGCCCAAGTCTTCGCCTTGCT	0.388																																																0													95	92	93					12																	64812710		2203	4300	6503	SO:0001583	missense	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.325T>C	12.37:g.64812710T>C	ENSP00000327821:p.Phe109Leu		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787343	0.49997	.	.	ENSG00000184575	ENST00000332707;ENST00000400935	T;T	0.59364	0.27;0.27	4.78	4.78	0.61160	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.051754	0.85682	D	0.000000	T	0.44286	0.1286	L	0.27975	0.815	0.80722	D	1	B	0.14805	0.011	B	0.18561	0.022	T	0.30794	-0.9966	9	.	.	.	.	14.633	0.68671	0.0:0.0:0.0:1.0	.	109	O43592	XPOT_HUMAN	L	109	ENSP00000327821:F109L;ENSP00000383722:F109L	.	F	+	1	0	XPOT	63098977	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.199000	0.72112	1.918000	0.55548	0.455000	0.32223	TTC		0.388	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		C	64812710	T	C	64812710	3	2	495	1	0	0	0	0	1	0	0	0	17455	1609	56	3	343	3	XPOT	12	64812710	Missense_Mutation	SNP	T	TCGA-CJ-4643-01A-02D-1386-10	13599195	64812710	69039185	38	26742											
RPH3A	22895	hgsc.bcm.edu	37	12	113314465	113314465	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr12:113314465C>T	ENST00000389385.4	+	13	1462	c.965C>T	c.(964-966)cCt>cTt	p.P322L	RPH3A_ENST00000543106.2_Missense_Mutation_p.P322L|RPH3A_ENST00000415485.3_Missense_Mutation_p.P322L|RPH3A_ENST00000551052.1_Missense_Mutation_p.P318L|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Missense_Mutation_p.P273L|RPH3A_ENST00000420983.2_Missense_Mutation_p.P322L|RPH3A_ENST00000447659.2_Missense_Mutation_p.P273L	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	322	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCGAGCGACCCTGGGACCACT	0.602																																																0													30	26	27					12																	113314465		2198	4300	6498	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.965C>T	12.37:g.113314465C>T	ENSP00000374036:p.Pro322Leu		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	6.729	0.503239	0.12822	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.62232	0.05;0.05;0.04;0.05;0.05;0.04;0.05	5.05	4.16	0.48862	.	0.302651	0.27754	N	0.017981	T	0.50154	0.1599	L	0.47716	1.5	0.09310	N	0.999992	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.002	T	0.32161	-0.9917	10	0.16420	T	0.52	.	9.3877	0.38354	0.0:0.8998:0.0:0.1002	.	273;322;322;318	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	L	322;322;273;318;322;273;322	ENSP00000440384:P322L;ENSP00000374036:P322L;ENSP00000413254:P273L;ENSP00000448297:P318L;ENSP00000405357:P322L;ENSP00000450347:P273L;ENSP00000408889:P322L	ENSP00000374036:P322L	P	+	2	0	RPH3A	111798848	0.002000	0.14202	0.024000	0.17045	0.074000	0.17049	1.560000	0.36331	1.109000	0.41680	0.511000	0.50034	CCT		0.602	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		T	113314465	C	T	113314465	3	4	495	1	0	0	0	0	1	0	0	0	13557	681	24	2	1007	2	RPH3A	12	113314465	Missense_Mutation	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	48501755	113314465	20537430	39	26743											
TBC1D4	9882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	75936707	75936707	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr13:75936707T>A	ENST00000377636.3	-	2	881	c.535A>T	c.(535-537)Aaa>Taa	p.K179*	TBC1D4_ENST00000377625.2_Nonsense_Mutation_p.K179*|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Nonsense_Mutation_p.K179*	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	179	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATGGCCGCTTTAGATAATTGC	0.408																																																0													158	149	152					13																	75936707		1848	4099	5947	SO:0001587	stop_gained	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.535A>T	13.37:g.75936707T>A	ENSP00000366863:p.Lys179*		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Nonsense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	T	40	8.183816	0.98693	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	.	.	.	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9717	15.3699	0.74554	0.0:0.0:0.0:1.0	.	.	.	.	X	179	.	ENSP00000366852:K179X	K	-	1	0	TBC1D4	74834708	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	7.693000	0.84214	2.036000	0.60181	0.455000	0.32223	AAA		0.408	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		A	75936707	T	A	75936707	4	1	495	1	0	0	0	0	0	1	0	0	15627	1763	61	5	3441	5	TBC1D4	13	75936707	Nonsense_Mutation	SNP	T	TCGA-CJ-4643-01A-02D-1386-10		75936707	39233171	40	26744											
TMCO3	55002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	114149939	114149939	+	Missense_Mutation	SNP	G	G	A	rs139520979	byFrequency	TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr13:114149939G>A	ENST00000434316.2	+	2	402	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	TMCO3_ENST00000375391.1_Missense_Mutation_p.V15I|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	15						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GCTGTTTCCCGTCCTTCCCTG	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		15671	0.0		0.002	False		,,,				2504	0.0															0													90	82	85					13																	114149939		2203	4300	6503	SO:0001583	missense	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.43G>A	13.37:g.114149939G>A	ENSP00000389399:p.Val15Ile		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.52	1.661796	0.29515	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.30182	1.54	5.59	-10.6	0.00265	.	0.815504	0.11281	N	0.580293	T	0.12008	0.0292	N	0.22421	0.69	0.09310	N	1	B;B	0.15930	0.009;0.015	B;B	0.11329	0.002;0.006	T	0.10989	-1.0606	10	0.21014	T	0.42	-14.8361	5.1289	0.14899	0.0832:0.4219:0.2614:0.2335	.	15;15	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	I	15	ENSP00000389399:V15I	ENSP00000364540:V15I	V	+	1	0	TMCO3	113197940	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.805000	0.04530	-1.783000	0.01274	-1.737000	0.00689	GTC		0.642	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		A	114149939	G	A	114149939	3	1	495	1	0	0	0	0	1	0	0	0	16002	1145	40	1	45	1	TMCO3	13	114149939	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	38213232	114149939	1019939	41	26745											
C14orf4	64207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77491962	77491962	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr14:77491962G>A	ENST00000238647.3	-	1	3072	c.2174C>T	c.(2173-2175)aCg>aTg	p.T725M		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	725					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AACGAAATGCGTATCCTCCAA	0.582																																																0													64	53	57					14																	77491962		2203	4300	6503	SO:0001583	missense	0			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.2174C>T	14.37:g.77491962G>A	ENSP00000238647:p.Thr725Met		Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824684	0.71143	.	.	ENSG00000119669	ENST00000238647	T	0.78246	-1.16	4.64	4.64	0.57946	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	U	0.000000	D	0.88727	0.6515	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90587	0.4534	10	0.87932	D	0	.	16.6461	0.85177	0.0:0.0:1.0:0.0	.	725	Q9H1B7	I2BPL_HUMAN	M	725	ENSP00000238647:T725M	ENSP00000238647:T725M	T	-	2	0	IRF2BPL	76561715	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.611000	0.98342	2.407000	0.81776	0.462000	0.41574	ACG		0.582	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		A	77491962	G	A	77491962	3	1	495	1	0	0	0	0	1	0	0	0	1775	1145	40	1	220	1	C14orf4	14	77491962	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10		77491962	29857578	42	26746											
AHNAK2	113146	hgsc.bcm.edu	37	14	105412138	105412138	+	Missense_Mutation	SNP	A	A	G	rs200384326		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr14:105412138A>G	ENST00000333244.5	-	7	9769	c.9650T>C	c.(9649-9651)cTc>cCc	p.L3217P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3217						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGCTCCCTCGAGAACGTGGCC	0.602																																																0													112	72	85					14																	105412138		1914	4004	5918	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9650T>C	14.37:g.105412138A>G	ENSP00000353114:p.Leu3217Pro		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	2.736	-0.263306	0.05754	.	.	ENSG00000185567	ENST00000333244	T	0.00554	6.64	2.59	2.59	0.31030	.	.	.	.	.	T	0.00178	0.0005	N	0.00128	-2.045	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	8	0.30078	T	0.28	.	5.3502	0.16032	0.1716:0.0:0.8284:0.0	.	3217	Q8IVF2	AHNK2_HUMAN	P	3217	ENSP00000353114:L3217P	ENSP00000353114:L3217P	L	-	2	0	AHNAK2	104483183	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.587000	0.05780	0.297000	0.22615	-0.971000	0.02607	CTC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		G	105412138	A	G	105412138	3	3	495	1	0	0	0	0	1	0	0	0	415	304	11	3	7741	3	AHNAK2	14	105412138	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	27920176	105412138	1937402	43	26747											
AHNAK2	113146	hgsc.bcm.edu	37	14	105419047	105419047	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr14:105419047A>C	ENST00000333244.5	-	7	2860	c.2741T>G	c.(2740-2742)gTg>gGg	p.V914G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	914						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCAGGTGCACTTTGGGGCC	0.612																																																0													142	164	157					14																	105419047		1846	4091	5937	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2741T>G	14.37:g.105419047A>C	ENSP00000353114:p.Val914Gly		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	2.080	-0.411011	0.04799	.	.	ENSG00000185567	ENST00000333244	T	0.01871	4.59	3.89	2.98	0.34508	.	.	.	.	.	T	0.00524	0.0017	N	0.00021	-2.75	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46345	-0.9198	9	0.20519	T	0.43	-4.1188	8.1603	0.31194	0.1795:0.6471:0.1734:0.0	.	914	Q8IVF2	AHNK2_HUMAN	G	914	ENSP00000353114:V914G	ENSP00000353114:V914G	V	-	2	0	AHNAK2	104490092	0.813000	0.29090	0.004000	0.12327	0.003000	0.03518	1.857000	0.39399	0.152000	0.19188	-0.323000	0.08544	GTG		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105419047	A	C	105419047	3	2	495	1	0	0	0	0	1	0	0	0	415	159	6	5	14650	5	AHNAK2	14	105419047	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	6909	105419047	1930493	44	26748											
CYFIP1	23191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	22928512	22928512	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr15:22928512T>C	ENST00000313077.7	+	5	512		c.e5+2		CYFIP1_ENST00000560848.1_Splice_Site	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TACTTCCAGGTAAAATGGCAA	0.493																																																0													72	79	77					15																	22928512		2203	4300	6503	SO:0001630	splice_region_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.387+2T>C	15.37:g.22928512T>C				Splice_Site	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.988964	0.74589	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5679	0.68191	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYFIP1	20479953	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.668000	0.83897	2.035000	0.60131	0.454000	0.30748	.		0.493	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608	Intron	C	22928512	T	C	22928512	5	2	495	1	0	0	0	0	0	0	1	0	4139	1652	57	3	403	3	CYFIP1	15	22928512	Splice_Site	SNP	T	TCGA-CJ-4643-01A-02D-1386-10		22928512	79602880	45	26749											
JMJD7-PLA2G4B	100137049	broad.mit.edu;hgsc.bcm.edu	37	15	42132809	42132809	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr15:42132809G>C	ENST00000452633.1	+	4	522	c.170G>C	c.(169-171)aGc>aCc	p.S57T	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S57T|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.S288T|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.S288T|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S288T			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	57	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		AACAGCAGTAGCCCTGTCTGG	0.617																																																0													76	78	78					15																	42132809		2203	4300	6503	SO:0001583	missense	100137049			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.170G>C	15.37:g.42132809G>C	ENSP00000396045:p.Ser57Thr		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	15.34	2.805255	0.50315	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.04	0.346	0.16017	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.428514	0.25575	N	0.029723	T	0.47930	0.1472	N	0.17248	0.465	0.21984	N	0.999439	B;B;B	0.32753	0.383;0.065;0.287	B;B;B	0.34590	0.186;0.037;0.085	T	0.47812	-0.9088	10	0.87932	D	0	-1.8224	9.8622	0.41120	0.8494:0.0:0.1506:0.0	.	57;288;288	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	T	288;288;57;57	ENSP00000371886:S288T;ENSP00000342785:S288T;ENSP00000416610:S57T;ENSP00000396045:S57T	ENSP00000342785:S288T	S	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39920101	0.128000	0.22383	0.987000	0.45799	0.951000	0.60555	1.059000	0.30517	0.196000	0.20367	-0.136000	0.14681	AGC		0.617	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		C	42132809	G	C	42132809	3	2	495	1	0	0	0	0	1	0	0	0	7957	971	34	4	893	4	JMJD7-PLA2G4B	15	42132809	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	19204297	42132809	60398583	46	26750											
ITGA11	22801	broad.mit.edu;hgsc.bcm.edu	37	15	68595444	68595444	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr15:68595444G>C	ENST00000315757.7	-	30	3606	c.3520C>G	c.(3520-3522)Cgc>Ggc	p.R1174G	RP11-709B3.2_ENST00000569808.1_lincRNA|ITGA11_ENST00000423218.2_Missense_Mutation_p.R1175G	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1174	Poly-Arg.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TCCCTCCTGCGCCTGGCACTT	0.617																																																0													18	21	20					15																	68595444		1829	3929	5758	SO:0001583	missense	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.3520C>G	15.37:g.68595444G>C	ENSP00000327290:p.Arg1174Gly		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721921	0.68959	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.61392	0.11;0.11	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	M	0.70595	2.14	0.44627	D	0.997608	B;D	0.64830	0.04;0.994	B;P	0.57425	0.011;0.82	T	0.74819	-0.3535	10	0.72032	D	0.01	.	14.4829	0.67594	0.0:0.0:1.0:0.0	.	1174;1174	A8K8T0;Q9UKX5	.;ITA11_HUMAN	G	1174;1175;809	ENSP00000327290:R1174G;ENSP00000403392:R1175G	ENSP00000327290:R1174G	R	-	1	0	ITGA11	66382498	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.287000	0.59001	2.187000	0.69744	0.462000	0.41574	CGC		0.617	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		C	68595444	G	C	68595444	3	2	495	1	0	0	0	0	1	0	0	0	7876	1087	38	4	50	4	ITGA11	15	68595444	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	26462635	68595444	33935948	47	26751											
ZNF434	54925	broad.mit.edu;ucsc.edu	37	16	3432991	3432991	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr16:3432991C>T	ENST00000396852.4	-	7	2262	c.1955G>A	c.(1954-1956)cGa>cAa	p.R652Q	ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R363Q|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R652Q|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R440Q|NAA60_ENST00000576906.1_Intron	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	652					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										GTGGGTTTTTCGGTGGGCACT	0.512																																																0													110	96	101					16																	3432991		2197	4300	6497	SO:0001583	missense	0			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1955G>A	16.37:g.3432991C>T	ENSP00000380061:p.Arg652Gln		B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37		.	.	.	.	.	.	.	.	.	.	C	0.496	-0.873324	0.02570	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	3.18	0.858	0.19030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04770	0.0129	N	0.04132	-0.27	0.21105	N	0.999784	B;P	0.37573	0.241;0.6	B;B	0.32342	0.021;0.144	T	0.25222	-1.0138	9	0.02654	T	1	.	5.3883	0.16229	0.0:0.2969:0.0:0.7031	.	440;652	Q9NX65;Q6WMU8	ZN434_HUMAN;.	Q	440;652;652;363	ENSP00000302502:R440Q;ENSP00000380061:R652Q;ENSP00000380057:R652Q;ENSP00000391787:R363Q	ENSP00000302502:R440Q	R	-	2	0	ZNF434	3372992	0.000000	0.05858	0.298000	0.25002	0.931000	0.56810	-0.020000	0.12525	0.176000	0.19873	-0.471000	0.05019	CGA		0.512	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		T	3432991	C	T	3432991	3	4	495	1	0	0	0	0	1	0	0	0	17913	884	31	1	142	1	ZNF434	16	3432991	Missense_Mutation	SNP	C	TCGA-CJ-4643-01A-02D-1386-10		3432991	86921762	48	26752											
MYLK3	91807	broad.mit.edu;hgsc.bcm.edu	37	16	46766320	46766320	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr16:46766320C>G	ENST00000394809.4	-	4	1377	c.1262G>C	c.(1261-1263)gGg>gCg	p.G421A	MYLK3_ENST00000536476.1_Missense_Mutation_p.G80A	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	421					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGGCTCGGCCCCAGCCCTTTG	0.677																																																0													69	79	76					16																	46766320		2203	4300	6503	SO:0001583	missense	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1262G>C	16.37:g.46766320C>G	ENSP00000378288:p.Gly421Ala		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	6.233	0.411116	0.11812	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.69175	-0.38;-0.29	5.1	0.218	0.15270	.	0.256775	0.20554	N	0.090053	T	0.42562	0.1208	L	0.32530	0.975	0.09310	N	1	B;B	0.34372	0.278;0.451	B;B	0.30179	0.057;0.112	T	0.21518	-1.0243	10	0.12430	T	0.62	.	3.9708	0.09452	0.0:0.356:0.3934:0.2506	.	421;421	B5BUL9;Q32MK0	.;MYLK3_HUMAN	A	421;80	ENSP00000378288:G421A;ENSP00000439297:G80A	ENSP00000378288:G421A	G	-	2	0	MYLK3	45323821	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-0.842000	0.04354	0.155000	0.19261	-0.258000	0.10820	GGG		0.677	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		G	46766320	C	G	46766320	3	3	495	1	0	0	0	0	1	0	0	0	10060	623	22	4	1237	4	MYLK3	16	46766320	Missense_Mutation	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	43333329	46766320	43588433	49	26753											
DNAH9	1770	hgsc.bcm.edu;ucsc.edu	37	17	11795233	11795233	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr17:11795233A>T	ENST00000262442.4	+	58	11320	c.11252A>T	c.(11251-11253)aAg>aTg	p.K3751M	DNAH9_ENST00000608377.1_Missense_Mutation_p.K63M|DNAH9_ENST00000454412.2_Missense_Mutation_p.K3751M|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3751					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGTGTGATAAGCTGACCTAC	0.488																																																0													160	157	158					17																	11795233		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11252A>T	17.37:g.11795233A>T	ENSP00000262442:p.Lys3751Met		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611365	0.87258	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.77620	-1.11;-1.11;-1.11	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.93527	0.7934	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.96268	0.9196	10	0.87932	D	0	.	15.6785	0.77349	1.0:0.0:0.0:0.0	.	104;3751	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	M	3751;3751;2333;63;104	ENSP00000262442:K3751M;ENSP00000414874:K3751M;ENSP00000379323:K63M	ENSP00000262442:K3751M	K	+	2	0	DNAH9	11735958	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.079000	0.94032	2.288000	0.76882	0.533000	0.62120	AAG		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11795233	A	T	11795233	3	4	495	1	0	0	0	0	1	0	0	0	4610	72	3	5	11482	5	DNAH9	17	11795233	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10		11795233	69399977	50	26754											
RICH2	9912	hgsc.bcm.edu	37	17	12847385	12847385	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr17:12847385G>T	ENST00000379672.5	+	10	1033		c.e10-1		ARHGAP44_ENST00000340825.3_Splice_Site|ARHGAP44_ENST00000262444.9_Splice_Site	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44						exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCTCCCCTCAGAGGCCTGGGT	0.557																																																0													23	28	26					17																	12847385		1961	4165	6126	SO:0001630	splice_region_variant	9912				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.734-1G>T	17.37:g.12847385G>T			A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Splice_Site	SNP	ENST00000379672.5	37	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.565824	0.86439	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4003	0.87458	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP44	12788110	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.813000	0.99286	2.781000	0.95711	0.655000	0.94253	.		0.557	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	Intron	T	12847385	G	T	12847385	5	4	495	1	0	0	0	0	0	0	1	0	13363	956	33	4	771	4	RICH2	17	12847385	Splice_Site	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	1052152	12847385	68347825	51	26755											
UBB	7314	hgsc.bcm.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P113P|UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)											0													115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		C	16285560	T	C	16285560	2	2	495	1	0	0	0	0	0	0	0	1	16846	1538	54	3		3	UBB	17	16285560	Silent	SNP	T	TCGA-CJ-4643-01A-02D-1386-10	3438175	16285560	64909650	52	26756											
UNC119	9094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26875651	26875651	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr17:26875651G>A	ENST00000335765.4	-	2	403	c.293C>T	c.(292-294)tCa>tTa	p.S98L	UNC119_ENST00000484980.1_Missense_Mutation_p.S3L|UNC119_ENST00000470125.1_Missense_Mutation_p.S3L|UNC119_ENST00000301032.4_Missense_Mutation_p.S98L	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	98					cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GACAGTGCCTGAGTCCATGTC	0.547											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													94	94	94					17																	26875651		2203	4300	6503	SO:0001583	missense	9094			U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"POC7 centriolar protein homolog A (Chlamydomonas)"	604011	"unc119 (C.elegans) homolog"			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.293C>T	17.37:g.26875651G>A	ENSP00000337040:p.Ser98Leu	790	A8K8G4|F1T095|O95126	Missense_Mutation	SNP	ENST00000335765.4	37	CCDS11233.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465656	0.96257	.	.	ENSG00000109103	ENST00000335765;ENST00000301032;ENST00000444148	T;T;T	0.79940	-1.23;-1.25;-1.32	5.94	3.97	0.46021	Immunoglobulin E-set (1);	0.056607	0.64402	D	0.000001	D	0.89462	0.6722	M	0.87827	2.91	0.58432	D	0.999995	D;D	0.76494	0.999;0.997	D;P	0.65140	0.932;0.839	D	0.90529	0.4494	10	0.87932	D	0	-5.2697	13.0643	0.59024	0.1131:0.0:0.8869:0.0	.	98;98	F1T095;Q13432	.;U119A_HUMAN	L	98;98;91	ENSP00000337040:S98L;ENSP00000301032:S98L;ENSP00000414639:S91L	ENSP00000301032:S98L	S	-	2	0	UNC119	23899778	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.869000	0.99810	0.863000	0.35553	0.557000	0.71058	TCA		0.547	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2			A	26875651	G	A	26875651	3	1	495	1	0	0	0	0	1	0	0	0	16987	1294	45	2	498	2	UNC119	17	26875651	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	10590091	26875651	54319559	53	26757											
GPR179	440435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36482951	36482951	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr17:36482951T>G	ENST00000342292.4	-	11	6521	c.6501A>C	c.(6499-6501)gaA>gaC	p.E2167D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2167					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGAGAAGTGTTCTTCCGTCC	0.597																																																0													113	116	115					17																	36482951		2098	4224	6322	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6501A>C	17.37:g.36482951T>G	ENSP00000345060:p.Glu2167Asp			Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	T	9.613	1.131693	0.21041	.	.	ENSG00000188888	ENST00000342292	T	0.52057	0.68	4.55	-1.95	0.07548	.	0.000000	0.35838	N	0.002950	T	0.34279	0.0892	L	0.55481	1.735	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.17561	-1.0365	10	0.52906	T	0.07	-3.9221	4.6298	0.12496	0.0:0.2499:0.2972:0.453	.	2167	Q6PRD1	GP179_HUMAN	D	2167	ENSP00000345060:E2167D	ENSP00000345060:E2167D	E	-	3	2	GPR179	33736477	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.089000	0.15002	-0.647000	0.05444	-0.467000	0.05162	GAA		0.597	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			G	36482951	T	G	36482951	3	3	495	1	0	0	0	0	1	0	0	0	6676	1722	60	5	606	5	GPR179	17	36482951	Missense_Mutation	SNP	T	TCGA-CJ-4643-01A-02D-1386-10	9607300	36482951	44712259	54	26758											
ERBB2	2064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37873629	37873629	+	Silent	SNP	C	C	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr17:37873629C>T	ENST00000269571.5	+	15	1953	c.1794C>T	c.(1792-1794)gcC>gcT	p.A598A	ERBB2_ENST00000578199.1_Silent_p.A568A|ERBB2_ENST00000540042.1_Silent_p.A568A|ERBB2_ENST00000445658.2_Silent_p.A322A|ERBB2_ENST00000584450.1_Silent_p.A598A|ERBB2_ENST00000541774.1_Silent_p.A583A|ERBB2_ENST00000540147.1_Silent_p.A568A|ERBB2_ENST00000584601.1_Silent_p.A568A|ERBB2_ENST00000406381.2_Silent_p.A568A			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	598					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TCTGCGTGGCCCGCTGCCCCA	0.622		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													52	49	50					17																	37873629		2203	4300	6503	SO:0001819	synonymous_variant	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1794C>T	17.37:g.37873629C>T			B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	CCDS32642.1																																																																																				0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			T	37873629	C	T	37873629	2	4	495	1	0	0	0	0	0	0	0	1	5208	610	22	2		2	ERBB2	17	37873629	Silent	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	1390678	37873629	43321581	55	26759											
KRTAP9-2	83899	hgsc.bcm.edu	37	17	39383027	39383027	+	Missense_Mutation	SNP	G	G	T	rs71371478	byFrequency	TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr17:39383027G>T	ENST00000377721.3	+	1	128	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.A41S	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	41	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)		p.A41S(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCAGCCCGCCTGCTGTGT	0.637																																																1	Substitution - Missense(1)	skin(1)											59	53	55					17																	39383027		2203	4300	6503	SO:0001583	missense	83899			AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"Keratin associated proteins"	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.121G>T	17.37:g.39383027G>T	ENSP00000366950:p.Ala41Ser		Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.020245	0.00418	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01192	5.2;5.4	2.86	-2.81	0.05805	.	.	.	.	.	T	0.00328	0.0010	N	0.00368	-1.59	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.39742	-0.9599	9	0.02654	T	1	.	5.0512	0.14508	0.3642:0.0:0.0934:0.5425	.	41	Q9BYQ4	KRA92_HUMAN	S	41	ENSP00000366950:A41S;ENSP00000398325:A41S	ENSP00000366950:A41S	A	+	1	0	KRTAP9-2	36636553	0.000000	0.05858	0.088000	0.20740	0.203000	0.24098	-1.973000	0.01500	-1.243000	0.02519	-4.519000	0.00005	GCC		0.637	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			T	39383027	G	T	39383027	3	4	495	1	0	0	0	0	1	0	0	0	8575	1087	38	4	123	4	KRTAP9-2	17	39383027	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	1509398	39383027	41812183	56	26760											
BRCA1	672	broad.mit.edu;ucsc.edu	37	17	41234582	41234582	+	Missense_Mutation	SNP	G	G	C	rs80357649		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr17:41234582G>C	ENST00000357654.3	-	12	4314	c.4196C>G	c.(4195-4197)aCc>aGc	p.T1399S	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.T1103S|BRCA1_ENST00000493795.1_Missense_Mutation_p.T1352S|BRCA1_ENST00000354071.3_Missense_Mutation_p.T1399S|BRCA1_ENST00000346315.3_Missense_Mutation_p.T1399S|BRCA1_ENST00000491747.2_Missense_Mutation_p.T296S|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.T1399S|BRCA1_ENST00000352993.3_Missense_Mutation_p.T257S|BRCA1_ENST00000351666.3_Missense_Mutation_p.T216S|BRCA1_ENST00000468300.1_Missense_Mutation_p.T296S|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1399	Interaction with PALB2.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGTTGCATGGTATCCCTCTG	0.383			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			GRCh37	CD032728	BRCA1	D	rs80357649						113	98	103					17																	41234582		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4196C>G	17.37:g.41234582G>C	ENSP00000350283:p.Thr1399Ser		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.67|17.67	3.446423|3.446423	0.63178|0.63178	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000461574|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90955	.|-2.37;-2.47;-2.45;-2.46;-2.44;-2.27;-2.29;-2.76;-2.37;-2.49;-2.16;-1.92;-2.35;-1.81	5.35|5.35	4.39|4.39	0.52855|0.52855	.|.	.|0.228468	.|0.31167	.|N	.|0.008139	D|D	0.91673|0.91673	0.7368|0.7368	L|L	0.32530|0.32530	0.975|0.975	0.25262|0.25262	N|N	0.989586|0.989586	.|D;D;P;D;P;P;B;P	.|0.69078	.|0.966;0.996;0.91;0.997;0.91;0.91;0.255;0.946	.|P;D;B;D;B;B;B;P	.|0.73708	.|0.505;0.968;0.388;0.981;0.388;0.388;0.053;0.592	D|D	0.85526|0.85526	0.1206|0.1206	5|10	.|0.87932	.|D	.|0	.|.	12.3453|12.3453	0.55118|0.55118	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	.|295;249;295;296;296;1399;1399;1399	.|E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.|.;.;.;.;.;.;BRCA1_HUMAN;.	A|S	164|1399;1399;1399;257;1399;216;1103;296;249;1399;1352;295;295;170;249;171	.|ENSP00000350283:T1399S;ENSP00000326002:T1399S;ENSP00000312236:T257S;ENSP00000246907:T1399S;ENSP00000338007:T216S;ENSP00000310938:T1103S;ENSP00000417148:T296S;ENSP00000377294:T249S;ENSP00000418960:T1399S;ENSP00000418775:T1352S;ENSP00000420412:T295S;ENSP00000419481:T170S;ENSP00000418819:T249S;ENSP00000418212:T171S	.|ENSP00000310938:T1103S	P|T	-|-	1|2	0|0	BRCA1|BRCA1	38488108|38488108	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.980000|0.980000	0.70556|0.70556	2.002000|2.002000	0.40835|0.40835	1.495000|1.495000	0.48549|0.48549	0.555000|0.555000	0.69702|0.69702	CCA|ACC		0.383	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		C	41234582	G	C	41234582	3	2	495	1	0	0	0	0	1	0	0	0	1500	1261	44	4	1513	4	BRCA1	17	41234582	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	1851555	41234582	39960628	57	26761											
LRRC46	90506	broad.mit.edu;hgsc.bcm.edu	37	17	45914323	45914323	+	Missense_Mutation	SNP	C	C	T	rs534847251		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr17:45914323C>T	ENST00000269025.4	+	8	1166	c.803C>T	c.(802-804)cCc>cTc	p.P268L		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	268										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GTCTCCTCACCCCAGGCCTCC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17224	0.0		0.0	False		,,,				2504	0.001															0													84	90	88					17																	45914323		2203	4300	6503	SO:0001583	missense	90506				CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.803C>T	17.37:g.45914323C>T	ENSP00000269025:p.Pro268Leu		A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	37	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274624	0.40194	.	.	ENSG00000141294	ENST00000269025	T	0.79141	-1.24	5.66	1.2	0.21068	.	0.658399	0.14103	N	0.341263	T	0.69124	0.3076	L	0.60455	1.87	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.62220	-0.6900	10	0.66056	D	0.02	-0.8363	4.8214	0.13392	0.0:0.5828:0.1568:0.2604	.	268;268	A8K9Q0;Q96FV0	.;LRC46_HUMAN	L	268	ENSP00000269025:P268L	ENSP00000269025:P268L	P	+	2	0	LRRC46	43269322	0.005000	0.15991	0.001000	0.08648	0.171000	0.22731	2.171000	0.42453	0.773000	0.33404	-0.147000	0.13772	CCC		0.657	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		T	45914323	C	T	45914323	3	4	495	1	0	0	0	0	1	0	0	0	9005	623	22	2	833	2	LRRC46	17	45914323	Missense_Mutation	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	4679741	45914323	35280887	58	26762											
GH2	2689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61958132	61958132	+	Splice_Site	SNP	C	C	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr17:61958132C>G	ENST00000423893.2	-	4	517	c.456G>C	c.(454-456)tgG>tgC	p.W152C	GH2_ENST00000456543.2_Intron|GH2_ENST00000449787.2_Splice_Site_p.W137C|GH2_ENST00000332800.7_Missense_Mutation_p.W152C			P01242	SOM2_HUMAN	growth hormone 2	152					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CCACCCTCACCCACATCAGCG	0.602																																																0													88	86	86					17																	61958132		2203	4300	6503	SO:0001630	splice_region_variant	2689			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.456+1G>C	17.37:g.61958132C>G			B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	c	11.93	1.785546	0.31593	.	.	ENSG00000136487	ENST00000332800;ENST00000423893;ENST00000449787	D;D;D	0.88586	-2.4;-2.17;-2.17	2.94	2.94	0.34122	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.497073	0.21017	N	0.081586	D	0.87958	0.6309	L	0.29908	0.895	0.39141	D	0.962035	B;B;D	0.54207	0.363;0.427;0.965	P;B;P	0.56343	0.656;0.401;0.796	D	0.89238	0.3582	10	0.72032	D	0.01	.	11.7079	0.51607	0.0:1.0:0.0:0.0	.	152;137;152	P01242;O14643;B1A4H7	SOM2_HUMAN;.;.	C	152;152;137	ENSP00000333157:W152C;ENSP00000409294:W152C;ENSP00000410618:W137C	ENSP00000333157:W152C	W	-	3	0	GH2	59311864	1.000000	0.71417	0.999000	0.59377	0.088000	0.18126	3.545000	0.53648	1.644000	0.50603	0.306000	0.20318	TGG		0.602	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059	Missense_Mutation	G	61958132	C	G	61958132	5	3	495	1	0	0	0	0	0	0	1	0	6370	637	22	4	542	4	GH2	17	61958132	Splice_Site	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	16043809	61958132	19237078	59	26763											
BAHCC1	57597	hgsc.bcm.edu	37	17	79424537	79424537	+	Silent	SNP	C	C	T	rs34224936	byFrequency	TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr17:79424537C>T	ENST00000307745.7	+	21	4960	c.4960C>T	c.(4960-4962)Ctg>Ttg	p.L1654L																								TGTGGCCGTGCTGGGGCCCTC	0.632													C|||	1526	0.304712	0.2821	0.4222	5008	,	,		13963	0.1438		0.3807	False		,,,				2504	0.3395															0								C		1245,2881		195,855,1013	17	24	21		4789	3.9	1	17	dbSNP_126	21	3100,5308		559,1982,1663	no	coding-synonymous	BAHCC1	NM_001080519.2		754,2837,2676	TT,TC,CC		36.8696,30.1745,34.6657		1597/2552	79424537	4345,8189	2063	4204	6267	SO:0001819	synonymous_variant	57597																														ENST00000307745.7:c.4960C>T	17.37:g.79424537C>T				Silent	SNP	ENST00000307745.7	37																																																																																					0.632	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				T	79424537	C	T	79424537	2	4	495	1	0	0	0	0	0	0	0	1	1296	796	28	2		2	BAHCC1	17	79424537	Silent	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	17466405	79424537	1770673	60	26764											
CDH7	1005	broad.mit.edu;ucsc.edu	37	18	63430106	63430106	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr18:63430106C>G	ENST00000397968.2	+	2	454	c.28C>G	c.(28-30)Cat>Gat	p.H10D	CDH7_ENST00000323011.3_Missense_Mutation_p.H10D|CDH7_ENST00000536984.2_Missense_Mutation_p.H10D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	10					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAGTTCTGCCATTTTCTGCA	0.413																																																0													115	113	113					18																	63430106		2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.28C>G	18.37:g.63430106C>G	ENSP00000381058:p.His10Asp		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094974	0.36952	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.53640	0.61;0.62;0.61	5.83	5.83	0.93111	.	0.162003	0.44097	D	0.000493	T	0.44953	0.1318	L	0.44542	1.39	0.43777	D	0.996302	P;B	0.42785	0.79;0.118	B;B	0.39119	0.291;0.037	T	0.32455	-0.9906	10	0.37606	T	0.19	.	20.1195	0.97955	0.0:1.0:0.0:0.0	.	10;10	F5H5X9;Q9ULB5	.;CADH7_HUMAN	D	10	ENSP00000319166:H10D;ENSP00000443030:H10D;ENSP00000381058:H10D	ENSP00000319166:H10D	H	+	1	0	CDH7	61581086	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.252000	0.51461	2.759000	0.94783	0.650000	0.86243	CAT		0.413	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		G	63430106	C	G	63430106	3	3	495	1	0	0	0	0	1	0	0	0	3117	594	21	4	30	4	CDH7	18	63430106	Missense_Mutation	SNP	C	TCGA-CJ-4643-01A-02D-1386-10		63430106	14647142	61	26765											
TICAM1	148022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4817211	4817211	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr19:4817211T>A	ENST00000248244.5	-	2	1408	c.1179A>T	c.(1177-1179)aaA>aaT	p.K393N		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	393	TIR.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGTTATAGAATTTCTGTTCCG	0.592																																																0													44	46	45					19																	4817211		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1179A>T	19.37:g.4817211T>A	ENSP00000248244:p.Lys393Asn		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.279634	0.59758	.	.	ENSG00000127666	ENST00000248244	T	0.02787	4.16	4.42	-8.02	0.01118	.	0.340155	0.17557	N	0.169948	T	0.02533	0.0077	L	0.44542	1.39	0.20403	N	0.999906	P	0.44877	0.845	B	0.43478	0.421	T	0.10291	-1.0636	10	0.66056	D	0.02	-22.9006	7.1305	0.25497	0.0:0.3566:0.149:0.4944	.	393	Q8IUC6	TCAM1_HUMAN	N	393	ENSP00000248244:K393N	ENSP00000248244:K393N	K	-	3	2	TICAM1	4768211	0.000000	0.05858	0.173000	0.22940	0.659000	0.38960	-3.344000	0.00504	-0.849000	0.04158	0.260000	0.18958	AAA		0.592	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		A	4817211	T	A	4817211	3	1	495	1	0	0	0	0	1	0	0	0	15897	1490	52	5	963	5	TICAM1	19	4817211	Missense_Mutation	SNP	T	TCGA-CJ-4643-01A-02D-1386-10		4817211	54311772	62	26766											
PTPRS	5802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	5214437	5214437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr19:5214437G>A	ENST00000587303.1	-	29	4648	c.4549C>T	c.(4549-4551)Cag>Tag	p.Q1517*	PTPRS_ENST00000357368.4_Nonsense_Mutation_p.Q1517*|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Nonsense_Mutation_p.Q1070*|PTPRS_ENST00000262963.6_Nonsense_Mutation_p.Q1497*|PTPRS_ENST00000588012.1_Nonsense_Mutation_p.Q1479*|PTPRS_ENST00000372412.4_Nonsense_Mutation_p.Q1518*|PTPRS_ENST00000348075.2_Nonsense_Mutation_p.Q1479*|PTPRS_ENST00000353284.2_Nonsense_Mutation_p.Q1070*			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1517	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AACGTGACCTGGATGAAGCCG	0.587																																																0													135	101	113					19																	5214437		2203	4300	6503	SO:0001587	stop_gained	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4549C>T	19.37:g.5214437G>A	ENSP00000467537:p.Gln1517*		O75255|O75870|Q15718|Q16341|Q2M3R7	Nonsense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	43	10.141872	0.99345	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	.	.	.	3.12	3.12	0.35913	.	0.000000	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.721	0.69305	0.0:0.0:1.0:0.0	.	.	.	.	X	1112;1518;1517;1517;1508;1497;1479;1099;1074;1070	.	ENSP00000262963:Q1497X	Q	-	1	0	PTPRS	5165437	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	9.389000	0.97243	1.772000	0.52199	0.313000	0.20887	CAG		0.587	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			A	5214437	G	A	5214437	4	1	495	1	0	0	0	0	0	1	0	0	12817	1357	47	2	1333	2	PTPRS	19	5214437	Nonsense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	397226	5214437	53914546	63	26767											
ZNF493	284443	broad.mit.edu	37	19	21607481	21607482	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr19:21607481_21607482delAA	ENST00000355504.4	+	2	1902_1903	c.1636_1637delAA	c.(1636-1638)aaafs	p.K546fs	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Frame_Shift_Del_p.K674fs	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AACCCTTACTAAACATAAGATA	0.361																																																0																																										SO:0001589	frameshift_variant	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1636_1637delAA	19.37:g.21607481_21607482delAA	ENSP00000347691:p.Lys546fs		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Frame_Shift_Del	DEL	ENST00000355504.4	37	CCDS12412.1																																																																																				0.361	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		-	21607482	AA	-	21607481	7	5	495	1	0	1	0	1	0	0	0	0	17949	363	13	0	2097	0	ZNF493	19	21607481	Frame_Shift_Del	DEL	AA	TCGA-CJ-4643-01A-02D-1386-10	16393044	21607481	37521502	64	26768											
RASGRP4	115727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38904046	38904046	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr19:38904046A>T	ENST00000587738.1	-	10	1369	c.1299T>A	c.(1297-1299)tgT>tgA	p.C433*	RASGRP4_ENST00000587753.1_Nonsense_Mutation_p.C364*|RASGRP4_ENST00000293062.9_Nonsense_Mutation_p.C336*|RASGRP4_ENST00000433821.2_Nonsense_Mutation_p.C341*|RASGRP4_ENST00000426920.2_Nonsense_Mutation_p.C244*|RASGRP4_ENST00000586305.1_Nonsense_Mutation_p.C419*|RASGRP4_ENST00000454404.2_Nonsense_Mutation_p.C399*			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	433					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCTCTTGGGACAACGCGGCT	0.592																																																0													27	35	32					19																	38904046		2038	4176	6214	SO:0001587	stop_gained	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1299T>A	19.37:g.38904046A>T	ENSP00000465772:p.Cys433*		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Nonsense_Mutation	SNP	ENST00000587738.1	37	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	A	38	6.812340	0.97857	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	.	.	.	5.25	-0.452	0.12205	.	0.131736	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-4.3089	9.7573	0.40510	0.6134:0.0:0.3866:0.0	.	.	.	.	X	341;336;244;433;433	.	ENSP00000293062:C336X	C	-	3	2	RASGRP4	43595886	1.000000	0.71417	0.991000	0.47740	0.838000	0.47535	1.367000	0.34204	-0.091000	0.12440	0.533000	0.62120	TGT		0.592	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		T	38904046	A	T	38904046	4	4	495	1	0	0	0	0	0	1	0	0	13083	273	10	5	754	5	RASGRP4	19	38904046	Nonsense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	17296565	38904046	20224937	65	26769											
ARHGEF1	9138	broad.mit.edu;hgsc.bcm.edu	37	19	42408211	42408211	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr19:42408211T>G	ENST00000354532.3	+	21	2090	c.1942T>G	c.(1942-1944)Ttg>Gtg	p.L648V	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.L704V|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L630V|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L615V|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L663V	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	648	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CAAGAAGAAATTGGTCCACGA	0.622																																																0													118	119	118					19																	42408211		2203	4300	6503	SO:0001583	missense	9138			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1942T>G	19.37:g.42408211T>G	ENSP00000346532:p.Leu648Val		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038121	0.54896	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.08	-4.07	0.03975	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.077244	0.49916	D	0.000129	T	0.78444	0.4284	M	0.80847	2.515	0.45502	D	0.998463	B;B;P;B	0.36392	0.149;0.441;0.551;0.352	B;B;B;B	0.43508	0.083;0.307;0.345;0.422	T	0.75991	-0.3122	10	0.72032	D	0.01	-9.6409	12.2805	0.54760	0.0:0.6431:0.0:0.3569	.	630;663;615;648	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	V	648;615;663;630	ENSP00000346532:L648V;ENSP00000344429:L615V;ENSP00000337261:L663V;ENSP00000367394:L630V	ENSP00000337261:L663V	L	+	1	2	ARHGEF1	47100051	0.000000	0.05858	0.906000	0.35671	0.985000	0.73830	-0.971000	0.03806	-0.818000	0.04329	0.456000	0.33151	TTG		0.622	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		G	42408211	T	G	42408211	3	3	495	1	0	0	0	0	1	0	0	0	893	1490	52	5	2069	5	ARHGEF1	19	42408211	Missense_Mutation	SNP	T	TCGA-CJ-4643-01A-02D-1386-10	3504165	42408211	16720772	66	26770											
ZNF610	162963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52857566	52857566	+	Silent	SNP	C	C	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr19:52857566C>T	ENST00000403906.3	+	5	709	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	ZNF610_ENST00000327920.8_Silent_p.L85L|ZNF610_ENST00000601151.1_Intron|ZNF610_ENST00000321287.8_Silent_p.L85L	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GCCCTTGATTCTGCAAAGTCA	0.413																																																0													85	88	87					19																	52857566		2203	4300	6503	SO:0001819	synonymous_variant	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.253C>T	19.37:g.52857566C>T			A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	CCDS12851.1																																																																																				0.413	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		T	52857566	C	T	52857566	2	4	495	1	0	0	0	0	0	0	0	1	18041	912	32	2		2	ZNF610	19	52857566	Silent	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	10449355	52857566	6271417	67	26771											
LILRA6	79168	hgsc.bcm.edu	37	19	54745508	54745508	+	Missense_Mutation	SNP	G	G	A	rs61734497	byFrequency	TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr19:54745508G>A	ENST00000396365.2	-	4	641	c.602C>T	c.(601-603)aCa>aTa	p.T201I	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.T201I|LILRA6_ENST00000270464.5_Missense_Mutation_p.T201I|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Missense_Mutation_p.T201I|LILRA6_ENST00000419410.2_Missense_Mutation_p.T201I	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	201					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGTTTGTATAATAGTA	0.617													.|||	2021	0.403554	0.3759	0.415	5008	,	,		18511	0.5675		0.3628	False		,,,				2504	0.3057															0													39	44	42					19																	54745508		1868	3761	5629	SO:0001583	missense	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.602C>T	19.37:g.54745508G>A	ENSP00000379651:p.Thr201Ile			Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	g	14.67	2.605213	0.46423	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	2.38	-4.75	0.03239	Immunoglobulin-like fold (1);	2.023030	0.02301	N	0.071197	T	0.19485	0.0468	L	0.32530	0.975	0.80722	P	0.0	B;D;B;B;P	0.54207	0.17;0.965;0.16;0.077;0.671	B;P;B;B;B	0.58780	0.086;0.845;0.12;0.118;0.343	T	0.32719	-0.9896	9	0.66056	D	0.02	.	5.4334	0.16466	0.0:0.1945:0.454:0.3514	.	201;201;201;201;201	C9JFH3;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;LIRA6_HUMAN;.;.;.	I	201	ENSP00000390120:T201I;ENSP00000270464:T201I;ENSP00000411227:T201I;ENSP00000379651:T201I;ENSP00000245621:T201I	ENSP00000245621:T201I	T	-	2	0	LILRA6	59437320	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.356000	0.01087	-1.704000	0.01407	-2.001000	0.00444	ACA		0.617	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		A	54745508	G	A	54745508	3	1	495	1	0	0	0	0	1	0	0	0	8791	1377	48	2	863	2	LILRA6	19	54745508	Missense_Mutation	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	1887942	54745508	4383475	68	26772											
LAIR1	3903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54872809	54872809	+	Silent	SNP	C	C	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr19:54872809C>T	ENST00000391742.2	-	3	230	c.78G>A	c.(76-78)ctG>ctA	p.L26L	LAIR1_ENST00000434277.2_Silent_p.L25L|LAIR1_ENST00000391743.3_Silent_p.L8L|LAIR1_ENST00000313038.6_Silent_p.L19L|LAIR1_ENST00000474878.1_Silent_p.L25L|LAIR1_ENST00000348231.4_Silent_p.L26L|LAIR1_ENST00000463489.1_5'UTR			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	26					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		AGGGTCTGGGCAGATCTTCTA	0.572																																																0													99	104	103					19																	54872809		2203	4300	6503	SO:0001819	synonymous_variant	3903			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.78G>A	19.37:g.54872809C>T				Silent	SNP	ENST00000391742.2	37	CCDS12891.1																																																																																				0.572	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			T	54872809	C	T	54872809	2	4	495	1	0	0	0	0	0	0	0	1	8604	697	25	2		2	LAIR1	19	54872809	Silent	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	127301	54872809	4256174	69	26773											
NLRP5	126206	broad.mit.edu;ucsc.edu	37	19	56515289	56515289	+	Silent	SNP	A	A	G			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr19:56515289A>G	ENST00000390649.3	+	2	270	c.270A>G	c.(268-270)gaA>gaG	p.E90E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	90	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AATCTTCAGAATCGACCACAT	0.458																																																0													90	87	88					19																	56515289		1945	4151	6096	SO:0001819	synonymous_variant	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.270A>G	19.37:g.56515289A>G			A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																				0.458	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		G	56515289	A	G	56515289	2	3	495	1	0	0	0	0	0	0	0	1	10482	98	4	3		3	NLRP5	19	56515289	Silent	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	1642480	56515289	2613694	70	26774											
PLK1S1	101929591	broad.mit.edu	37	20	21143767	21143767	+	RNA	DEL	A	A	-			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr20:21143767delA	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							CCTGATTCAGAAAAGGAATCC	0.368																																																0													98	96	96					20																	21143767		1839	4098	5937			55857																															20.37:g.21143767delA				Frame_Shift_Del	DEL	ENST00000591761.1	37																																																																																					0.368	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			-	21143767	A	-	21143767	6	5	495	0	1	1	0	1	0	0	0	0	12097	246	9	0		0	PLK1S1	20	21143767	RNA	DEL	A	TCGA-CJ-4643-01A-02D-1386-10		21143767	41881753	71	26775											
ZSWIM3	140831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44506358	44506358	+	Silent	SNP	G	G	A	rs149497744		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chr20:44506358G>A	ENST00000255152.2	+	2	1370	c.1161G>A	c.(1159-1161)gcG>gcA	p.A387A	ZSWIM3_ENST00000454862.2_Silent_p.A381A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	387							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GCCTGCTTGCGTGTAACACCT	0.547																																																0								G		1,4405	2.1+/-5.4	0,1,2202	99	78	85		1161	-10.8	0	20	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	ZSWIM3	NM_080752.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		387/697	44506358	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140831			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1161G>A	20.37:g.44506358G>A			Q9BR13	Silent	SNP	ENST00000255152.2	37	CCDS13381.1																																																																																				0.547	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		A	44506358	G	A	44506358	2	1	495	1	0	0	0	0	0	0	0	1	18247	1132	40	1		1	ZSWIM3	20	44506358	Silent	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	23362591	44506358	18519162	72	26776											
VCX2	51480	hgsc.bcm.edu	37	X	8138165	8138165	+	Missense_Mutation	SNP	C	C	G	rs1058237		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chrX:8138165C>G	ENST00000317103.4	-	3	634	c.328G>C	c.(328-330)Gtg>Ctg	p.V110L		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	110	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		V -> L (in dbSNP:rs1058237). {ECO:0000269|PubMed:10607842, ECO:0000269|PubMed:10903929, ECO:0000269|PubMed:15489334}.							endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GGTTCTTCCACCTCGCTCTCC	0.637													G|||	3167	0.83894	0.6505	0.6484	3775	,	,		3693	0.7242		0.5795	False		,,,				2504	0.5562															0													38	47	44					X																	8138165		2171	4239	6410	SO:0001583	missense	51480			AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.328G>C	X.37:g.8138165C>G	ENSP00000321309:p.Val110Leu		A3KPB6|Q4V9T2|Q9P0H5	Missense_Mutation	SNP	ENST00000317103.4	37	CCDS35200.1	1080	0.650994575045208	166	0.45108695652173914	133	0.5732758620689655	217	0.638235294117647	228	0.41155234657039713	G	0.004	-2.260355	0.00262	.	.	ENSG00000177504	ENST00000317103	T	0.12465	2.68	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39781	-0.9597	7	0.06099	T	0.92	.	.	.	.	rs1058237;rs3198852;rs16998641	110	Q9H322	VCX2_HUMAN	L	110	ENSP00000321309:V110L	ENSP00000321309:V110L	V	-	1	0	VCX2	8098165	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.675000	0.05227	-1.450000	0.01936	-1.461000	0.01025	GTG		0.637	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378		G	8138165	C	G	8138165	3	3	495	1	0	0	0	0	1	0	0	0	17148	507	18	4	95	4	VCX2	23	8138165	Missense_Mutation	SNP	C	TCGA-CJ-4643-01A-02D-1386-10		8138165	147132395	73	26777	201	2	1	42		3	2	18	N	CT_C_A	4.228393e-05
VCX2	51480	hgsc.bcm.edu	37	X	8138170	8138171	+	Missense_Mutation	DNP	CT	CT	GC	rs75657421|rs78723459		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chrX:8138170_8138171CT>GC	ENST00000317103.4	-	3	628_629	c.322_323AG>GC	c.(322-324)AGc>GCc	p.S108A		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	108	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.			S -> A (in Ref. 1; AAG41765, 2; AAF28172 and 4; AAH98113/AAH96715/AAH98163). {ECO:0000305}.						endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TTCCACCTCGCTCTCCTGACTC	0.644																																																0																																										SO:0001583	missense	51480			AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.322_323delinsGC	X.37:g.8138170_8138171delinsGC	ENSP00000321309:p.Ser108Ala		A3KPB6|Q4V9T2|Q9P0H5	Missense_Mutation	SNP	ENST00000317103.4	37	CCDS35200.1																																																																																				0.644	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378		GC	8138171	CT	GC	8138170	3	3	495	1	0	0	0	0	1	0	0	0	17148	797	28	4	100	4	VCX2	23	8138170	Missense_Mutation	DNP	CT	TCGA-CJ-4643-01A-02D-1386-10	5	8138170	147132390	74	26778	201	2	1	42		3	2	18	N	CT_C_A	4.228393e-05
VCX2	51480	hgsc.bcm.edu	37	X	8138182	8138182	+	Missense_Mutation	SNP	A	A	G	rs41305169		TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chrX:8138182A>G	ENST00000317103.4	-	3	617	c.311T>C	c.(310-312)cTg>cCg	p.L104P		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	104	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		L -> P (in dbSNP:rs41305169). {ECO:0000269|PubMed:10607842, ECO:0000269|PubMed:10903929, ECO:0000269|PubMed:15489334}.							endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CTCCTGACTCAGGGGGTCGTG	0.667																																																0													27	34	32					X																	8138182		2157	4235	6392	SO:0001583	missense	51480			AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.311T>C	X.37:g.8138182A>G	ENSP00000321309:p.Leu104Pro		A3KPB6|Q4V9T2|Q9P0H5	Missense_Mutation	SNP	ENST00000317103.4	37	CCDS35200.1	798	0.4810126582278481	89	0.21394230769230768	103	0.3759124087591241	195	0.5158730158730159	169	0.2725806451612903	A	3.519	-0.098106	0.07010	.	.	ENSG00000177504	ENST00000317103	T	0.34859	1.34	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.00012	0.0000	L	0.61218	1.895	0.09310	N	0.999999	D	0.54397	0.966	P	0.61070	0.883	T	0.47649	-0.9101	8	0.51188	T	0.08	.	.	.	.	rs41305169	104	Q9H322	VCX2_HUMAN	P	104	ENSP00000321309:L104P	ENSP00000321309:L104P	L	-	2	0	VCX2	8098182	0.001000	0.12720	0.014000	0.15608	0.015000	0.08874	-0.143000	0.10296	0.105000	0.17753	0.104000	0.15600	CTG		0.667	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378		G	8138182	A	G	8138182	3	3	495	1	0	0	0	0	1	0	0	0	17148	188	7	3	112	3	VCX2	23	8138182	Missense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	12	8138182	147132378	75	26779			1	42		3	2	18	N	CT_C_A	4.228393e-05
WNK3	65267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54319687	54319687	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chrX:54319687A>T	ENST00000375159.2	-	8	1766	c.1767T>A	c.(1765-1767)taT>taA	p.Y589*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.Y589*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.Y589*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	589					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GATTTGAGGAATAGGCTACAC	0.403																																																0													94	84	87					X																	54319687		2203	4300	6503	SO:0001587	stop_gained	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1767T>A	X.37:g.54319687A>T	ENSP00000364301:p.Tyr589*		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	A	38	6.649758	0.97734	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.6	2.73	0.32206	.	0.128369	0.35677	N	0.003059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4894	7.8048	0.29195	0.7158:0.0:0.2842:0.0	.	.	.	.	X	589	.	ENSP00000346667:Y589X	Y	-	3	2	WNK3	54336412	1.000000	0.71417	0.950000	0.38849	0.924000	0.55760	1.741000	0.38238	0.703000	0.31848	0.481000	0.45027	TAT		0.403	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		T	54319687	A	T	54319687	4	4	495	1	0	0	0	0	0	1	0	0	17384	108	4	5	3699	5	WNK3	23	54319687	Nonsense_Mutation	SNP	A	TCGA-CJ-4643-01A-02D-1386-10	46181505	54319687	100950873	76	26780											
USP51	158880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	55513642	55513642	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chrX:55513642C>A	ENST00000500968.3	-	2	1813	c.1731G>T	c.(1729-1731)caG>caT	p.Q577H	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	577	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TAGTAGACTCCTGGTAGCTTT	0.433																																																0													64	55	58					X																	55513642		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1731G>T	X.37:g.55513642C>A	ENSP00000423333:p.Gln577His		Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	12.45	1.940680	0.34283	.	.	ENSG00000247746	ENST00000500968	T	0.03094	4.05	2.96	1.15	0.20763	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.19604	0.0471	M	0.93283	3.4	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.00364	-1.1787	10	0.59425	D	0.04	.	6.58	0.22588	0.0:0.7289:0.0:0.2711	.	577	Q70EK9	UBP51_HUMAN	H	577	ENSP00000423333:Q577H	ENSP00000423333:Q577H	Q	-	3	2	USP51	55530367	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	3.899000	0.56288	0.180000	0.19960	-0.458000	0.05436	CAG		0.433	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		A	55513642	C	A	55513642	3	1	495	1	0	0	0	0	1	0	0	0	17088	680	24	4	408	4	USP51	23	55513642	Missense_Mutation	SNP	C	TCGA-CJ-4643-01A-02D-1386-10	1193955	55513642	99756918	77	26781											
CNGA2	1260	broad.mit.edu;ucsc.edu	37	X	150912325	150912325	+	Silent	SNP	G	G	A			TCGA-CJ-4643-01A-02D-1386-10	TCGA-CJ-4643-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e00e420-94fd-4115-9cd9-cef24f6df0eb	0e427f57-9cae-40dc-9a75-6387da9af195	g.chrX:150912325G>A	ENST00000329903.4	+	6	1383	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	450					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCACACTCAAGAAAGTGCGCA	0.507																																																0													84	79	81					X																	150912325		2203	4300	6503	SO:0001819	synonymous_variant	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1350G>A	X.37:g.150912325G>A			A0AVD0	Silent	SNP	ENST00000329903.4	37	CCDS14701.1																																																																																				0.507	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		A	150912325	G	A	150912325	2	1	495	1	0	0	0	0	0	0	0	1	3599	933	33	2		2	CNGA2	23	150912325	Silent	SNP	G	TCGA-CJ-4643-01A-02D-1386-10	95398683	150912325	4358235	78	26782											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11188078	11188078	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:11188078C>G	ENST00000361445.4	-	43	6092	c.6016G>C	c.(6016-6018)Gtc>Ctc	p.V2006L	MTOR_ENST00000376838.1_Missense_Mutation_p.V211L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2006					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.V2006L(1)|p.V2006F(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCCTGCTGGACCAGGGTGTTG	0.552																																																2	Substitution - Missense(2)	kidney(2)											117	117	117					1																	11188078		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6016G>C	1.37:g.11188078C>G	ENSP00000354558:p.Val2006Leu		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247105	0.95305	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.78924	-1.22;-1.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.89403	0.6705	H	0.95611	3.695	0.80722	D	1	D	0.61080	0.989	P	0.51516	0.672	D	0.92193	0.5761	10	0.87932	D	0	-25.2415	20.063	0.97692	0.0:1.0:0.0:0.0	.	2006	P42345	MTOR_HUMAN	L	2006;211	ENSP00000354558:V2006L;ENSP00000366034:V211L	ENSP00000354558:V2006L	V	-	1	0	MTOR	11110665	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.456000	0.80751	2.735000	0.93741	0.655000	0.94253	GTC		0.552	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11188078	C	G	11188078	3	3	496	1	0	0	0	0	1	0	0	0	9956	507	18	4	1697	4	MTOR	1	11188078	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10		11188078	238062543	1	26783			1	43		2	2	23	C		5.543067e-05
MTOR	2475	broad.mit.edu	37	1	11188100	11188100	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:11188100C>G	ENST00000361445.4	-	43	6070	c.5994G>C	c.(5992-5994)atG>atC	p.M1998I	MTOR_ENST00000376838.1_Missense_Mutation_p.M203I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1998					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.M1998I(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGTGCTCACACATGTTCTTCA	0.562																																																1	Substitution - Missense(1)	kidney(1)											146	143	144					1																	11188100		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5994G>C	1.37:g.11188100C>G	ENSP00000354558:p.Met1998Ile		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143640	0.77888	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.79653	0.0;-1.29	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.87042	0.6079	M	0.72479	2.2	0.80722	D	1	P	0.50369	0.934	P	0.53146	0.719	D	0.87476	0.2417	10	0.66056	D	0.02	-11.0374	20.063	0.97692	0.0:1.0:0.0:0.0	.	1998	P42345	MTOR_HUMAN	I	1998;203	ENSP00000354558:M1998I;ENSP00000366034:M203I	ENSP00000354558:M1998I	M	-	3	0	MTOR	11110687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.735000	0.93741	0.655000	0.94253	ATG		0.562	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11188100	C	G	11188100	3	3	496	1	0	0	0	0	1	0	0	0	9956	478	17	4	1719	4	MTOR	1	11188100	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	22	11188100	238062521	2	26784			1	43		2	2	23	C		5.543067e-05
HNRNPCL1	343069	hgsc.bcm.edu	37	1	12907781	12907781	+	Missense_Mutation	SNP	T	T	C	rs28441396	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:12907781T>C	ENST00000317869.6	-	2	587	c.362A>G	c.(361-363)gAt>gGt	p.D121G		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	121						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GTACATTCCATCATAATAATC	0.502													.|||	3	0.000599042	0.0	0.0014	5008	,	,		18869	0.002		0.0	False		,,,				2504	0.0															0													82	79	80					1																	12907781		2203	4299	6502	SO:0001583	missense	343069			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.362A>G	1.37:g.12907781T>C	ENSP00000365370:p.Asp121Gly		B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.818753	0.32145	.	.	ENSG00000179172	ENST00000317869	T	0.11604	2.76	1.09	-1.98	0.07480	.	0.000000	0.56097	U	0.000029	T	0.10637	0.0260	M	0.69823	2.125	0.22127	P	0.999342631	B	0.27765	0.188	B	0.29267	0.1	T	0.06320	-1.0833	9	0.46703	T	0.11	.	4.8557	0.13557	0.0:0.4237:0.0:0.5763	rs28441396	121	O60812	HNRCL_HUMAN	G	121	ENSP00000365370:D121G	ENSP00000365370:D121G	D	-	2	0	HNRNPCL1	12830368	1.000000	0.71417	0.010000	0.14722	0.001000	0.01503	1.515000	0.35845	-0.980000	0.03524	-1.328000	0.01277	GAT		0.502	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		C	12907781	T	C	12907781	3	2	496	1	0	0	0	0	1	0	0	0	7265	1435	50	3	521	3	HNRNPCL1	1	12907781	Missense_Mutation	SNP	T	TCGA-CJ-4644-01A-02D-1386-10	1719681	12907781	236342840	3	26785											
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19407977	19407977	+	Silent	SNP	G	G	A	rs138176260	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:19407977G>A	ENST00000375254.3	-	103	15126	c.15099C>T	c.(15097-15099)gaC>gaT	p.D5033D	UBR4_ENST00000375267.2_Silent_p.D5033D|AL137127.1_ENST00000582644.1_RNA|UBR4_ENST00000375226.2_Silent_p.D5009D|UBR4_ENST00000375217.2_Silent_p.D5026D|UBR4_ENST00000429347.2_Silent_p.D556D|UBR4_ENST00000375225.3_Silent_p.D108D|UBR4_ENST00000543981.1_Silent_p.D697D|UBR4_ENST00000375224.1_Silent_p.D740D	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5033					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D5033D(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTAGGGCCCGTCCACTTCAA	0.552													G|||	3	0.000599042	0.0	0.0	5008	,	,		17662	0.0		0.003	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	178	181	180		15099	-8.7	0.6	1	dbSNP_134	180	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	UBR4	NM_020765.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		5033/5184	19407977	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15099C>T	1.37:g.19407977G>A			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.552	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19407977	G	A	19407977	2	1	496	1	0	0	0	0	0	0	0	1	16909	1136	40	1		1	UBR4	1	19407977	Silent	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	6500196	19407977	229842644	4	26786											
CELA3A	10136	hgsc.bcm.edu	37	1	22332241	22332241	+	Missense_Mutation	SNP	A	A	G	rs75527968	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:22332241A>G	ENST00000290122.3	+	4	333	c.314A>G	c.(313-315)gAg>gGg	p.E105G	RN7SL768P_ENST00000584415.1_RNA|CELA3A_ENST00000374663.1_Missense_Mutation_p.E105G	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCAACTCTGAGGAGCTGTTT	0.592											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	5	0.000998403	0.0015	0.0014	5008	,	,		21127	0.0		0.0	False		,,,				2504	0.002															0													128	112	118					1																	22332241		2197	4300	6497	SO:0001583	missense	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.314A>G	1.37:g.22332241A>G	ENSP00000290122:p.Glu105Gly	755	B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	CCDS220.1	.	.	.	.	.	.	.	.	.	.	A	5.149	0.213076	0.09757	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	T;D	0.93547	2.21;-3.24	3.88	-0.633	0.11519	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.86560	0.5962	L	0.38953	1.18	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.16289	0.015;0.005	T	0.71262	-0.4645	9	0.18710	T	0.47	-3.7117	6.9051	0.24305	0.575:0.0:0.425:0.0	.	105;105	B1AQ52;P09093	.;CEL3A_HUMAN	G	105;105;121	ENSP00000290122:E105G;ENSP00000363795:E105G	ENSP00000290122:E105G	E	+	2	0	CELA3A	22204828	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-1.034000	0.03567	0.009000	0.14813	-1.727000	0.00703	GAG		0.592	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		G	22332241	A	G	22332241	3	3	496	1	0	0	0	0	1	0	0	0	3215	304	11	3	328	3	CELA3A	1	22332241	Missense_Mutation	SNP	A	TCGA-CJ-4644-01A-02D-1386-10	2924264	22332241	226918380	5	26787											
SRRM1	10250	broad.mit.edu;hgsc.bcm.edu	37	1	24993365	24993365	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:24993365C>T	ENST00000323848.9	+	13	2003	c.1688C>T	c.(1687-1689)cCc>cTc	p.P563L	SRRM1_ENST00000447431.2_Missense_Mutation_p.P575L|SRRM1_ENST00000374389.4_Missense_Mutation_p.P572L|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	563	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P563L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCTCCTTCTCCCGCCCCTCCT	0.527																																					Ovarian(68;897 1494 3282 17478)											1	Substitution - Missense(1)	kidney(1)											53	46	48					1																	24993365		2203	4300	6503	SO:0001583	missense	10250			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1688C>T	1.37:g.24993365C>T	ENSP00000326261:p.Pro563Leu		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.748964	0.69533	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.62232	0.29;0.04;0.69	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.79070	0.4384	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.79349	-0.1840	10	0.59425	D	0.04	-2.7618	19.3453	0.94361	0.0:1.0:0.0:0.0	.	575;563	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	L	563;575;572	ENSP00000326261:P563L;ENSP00000391430:P575L;ENSP00000363510:P572L	ENSP00000326261:P563L	P	+	2	0	SRRM1	24865952	1.000000	0.71417	0.990000	0.47175	0.559000	0.35586	5.973000	0.70456	2.654000	0.90174	0.650000	0.86243	CCC		0.527	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		T	24993365	C	T	24993365	3	4	496	1	0	0	0	0	1	0	0	0	15173	623	22	2	1738	2	SRRM1	1	24993365	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	2661124	24993365	224257256	6	26788											
KDM4A	9682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44159696	44159696	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:44159696delC	ENST00000372396.3	+	17	2541	c.2407delC	c.(2407-2409)ctgfs	p.L803fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	803					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGTGGCAATTCTGGAAGCAAG	0.532																																																0													112	94	100					1																	44159696		2203	4300	6503	SO:0001589	frameshift_variant	9682			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2407delC	1.37:g.44159696delC	ENSP00000361473:p.Leu803fs		Q5VVB1	Frame_Shift_Del	DEL	ENST00000372396.3	37	CCDS491.1																																																																																				0.532	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		-	44159696	C	-	44159696	7	5	496	1	0	1	0	1	0	0	0	0	8130	912	32	0	2469	0	KDM4A	1	44159696	Frame_Shift_Del	DEL	C	TCGA-CJ-4644-01A-02D-1386-10	19166331	44159696	205090925	7	26789											
NBPF9	400818	broad.mit.edu	37	1	144815968	144815968	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200833830	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:144815968G>A	ENST00000281815.8	+	0	366				NBPF9_ENST00000338347.4_Missense_Mutation_p.V189I|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_Missense_Mutation_p.V189I			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9							cytoplasm (GO:0005737)		p.V189I(1)		NS(2)|prostate(1)	3						AGATGTTCAAGTTGAGGTGGC	0.423													.|||	1508	0.301118	0.084	0.3847	5008	,	,		18231	0.374		0.4264	False		,,,				2504	0.3313															1	Substitution - Missense(1)	kidney(1)																																										400818				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.-381G>A	1.37:g.144815968G>A				Missense_Mutation	SNP	ENST00000281815.8	37		.	.	.	.	.	.	.	.	.	.	.	7.838	0.721332	0.15372	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.02863	4.15;4.13	0.118	0.118	0.14667	DUF1220 (1);	.	.	.	.	T	0.00754	0.0025	.	.	.	0.58432	P	1.999999999946489E-6	B;B	0.30068	0.12;0.267	B;B	0.28991	0.077;0.097	T	0.48714	-0.9011	6	0.33141	T	0.24	.	.	.	.	.	447;187	Q3BBV1;A2BGT5	NBPFK_HUMAN;.	I	189	ENSP00000342975:V189I;ENSP00000390934:V189I	ENSP00000342975:V189I	V	+	1	0	NBPF9	143527325	0.003000	0.15002	0.039000	0.18376	0.060000	0.15804	1.066000	0.30604	0.191000	0.20236	0.194000	0.17425	GTT		0.423	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		A	144815968	G	A	144815968	1	1	496	1	0	1	0	0	0	0	0	0	10201	1029	36	2		2	NBPF9	1	144815968	De_novo_Start_OutOfFrame	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	100656272	144815968	104434653	8	26790											
FLG2	388698	broad.mit.edu;hgsc.bcm.edu	37	1	152330075	152330075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:152330075G>A	ENST00000388718.5	-	3	259	c.187C>T	c.(187-189)Cga>Tga	p.R63*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	63	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like. {ECO:0000250}.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R63*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGATCTCGATCCAGCATA	0.448																																																1	Substitution - Nonsense(1)	kidney(1)											111	98	103					1																	152330075		2203	4300	6503	SO:0001587	stop_gained	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.187C>T	1.37:g.152330075G>A	ENSP00000373370:p.Arg63*		Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	36	5.877244	0.97055	.	.	ENSG00000143520	ENST00000388718	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1927	15.1697	0.72862	0.0:0.0:1.0:0.0	.	.	.	.	X	63	.	ENSP00000373370:R63X	R	-	1	2	FLG2	150596699	0.894000	0.30519	1.000000	0.80357	0.993000	0.82548	1.192000	0.32150	2.659000	0.90383	0.557000	0.71058	CGA		0.448	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		A	152330075	G	A	152330075	4	1	496	1	0	0	0	0	0	1	0	0	5925	1066	37	1	6992	1	FLG2	1	152330075	Nonsense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	7514107	152330075	96920546	9	26791											
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu	37	1	201036117	201036117	+	Missense_Mutation	SNP	G	G	A	rs200334886		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:201036117G>A	ENST00000362061.3	-	20	2781	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T852M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	852					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T852M(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCGTAGGTCGTCATCTGGGG	0.582																																																1	Substitution - Missense(1)	kidney(1)						G	MET/THR	0,4406		0,0,2203	79	64	69		2555	3.8	1	1		69	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNA1S	NM_000069.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	852/1874	201036117	1,13005	2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2555C>T	1.37:g.201036117G>A	ENSP00000355192:p.Thr852Met		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715239	0.68844	0.0	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98400	-4.91;-4.91	3.81	3.81	0.43845	Ion transport (1);	0.062948	0.64402	U	0.000006	D	0.98143	0.9387	L	0.47078	1.49	0.58432	D	0.999998	D	0.62365	0.991	D	0.66084	0.941	D	0.99211	1.0876	10	0.66056	D	0.02	.	16.0476	0.80731	0.0:0.0:1.0:0.0	.	852	Q13698	CAC1S_HUMAN	M	852	ENSP00000355192:T852M;ENSP00000356307:T852M	ENSP00000355192:T852M	T	-	2	0	CACNA1S	199302740	1.000000	0.71417	0.975000	0.42487	0.829000	0.46940	5.555000	0.67301	1.835000	0.53391	0.549000	0.68633	ACG		0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201036117	G	A	201036117	3	1	496	1	0	0	0	0	1	0	0	0	2549	1145	40	1	3166	1	CACNA1S	1	201036117	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	48706042	201036117	48214504	10	26792											
HHIPL2	79802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222705449	222705449	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:222705449G>T	ENST00000343410.6	-	6	1640	c.1582C>A	c.(1582-1584)Ctt>Att	p.L528I		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	528					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.L528I(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AAAGCCATAAGTCGACTAGAC	0.438																																																1	Substitution - Missense(1)	kidney(1)											55	57	56					1																	222705449		2203	4300	6503	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1582C>A	1.37:g.222705449G>T	ENSP00000342118:p.Leu528Ile		Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602483	0.66445	.	.	ENSG00000143512	ENST00000343410	T	0.08896	3.04	5.0	4.09	0.47781	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Glucose/Sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.075098	0.52532	D	0.000067	T	0.12092	0.0294	L	0.28192	0.835	0.43107	D	0.994803	P	0.50156	0.932	P	0.55087	0.768	T	0.16453	-1.0402	10	0.27785	T	0.31	-16.2726	12.8232	0.57704	0.0796:0.0:0.9204:0.0	.	528	Q6UWX4	HIPL2_HUMAN	I	528	ENSP00000342118:L528I	ENSP00000342118:L528I	L	-	1	0	HHIPL2	220772072	0.985000	0.35326	1.000000	0.80357	0.985000	0.73830	1.714000	0.37961	1.091000	0.41335	0.591000	0.81541	CTT		0.438	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		T	222705449	G	T	222705449	3	4	496	1	0	0	0	0	1	0	0	0	7096	1029	36	4	608	4	HHIPL2	1	222705449	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	21669332	222705449	26545172	11	26793											
ZP4	57829	broad.mit.edu;ucsc.edu	37	1	238045723	238045723	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:238045723T>A	ENST00000366570.4	-	12	1780	c.1622A>T	c.(1621-1623)tAa>tTa	p.*541L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	0					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.*541L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACTCTGGTTTTATTGACACAT	0.428																																					NSCLC(166;160 2029 11600 18754 19936)											1	Nonstop extension(1)	kidney(1)											136	139	138					1																	238045723		2203	4300	6503	SO:0001578	stop_lost	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1622A>T	1.37:g.238045723T>A			B2RAE1	Nonstop_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	T	8.116	0.779827	0.16120	.	.	ENSG00000116996	ENST00000366570	.	.	.	3.49	1.03	0.20045	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0422	0.19740	0.4221:0.0:0.0:0.5779	.	.	.	.	L	541	.	.	X	-	2	2	ZP4	236112346	0.996000	0.38824	0.621000	0.29145	0.035000	0.12851	1.223000	0.32527	0.193000	0.20303	0.459000	0.35465	TAA		0.428	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			A	238045723	T	A	238045723	4	1	496	1	0	0	0	0	0	0	0	0	18223	1761	61	5	4	5	ZP4	1	238045723	Nonstop_Mutation	SNP	T	TCGA-CJ-4644-01A-02D-1386-10	15340274	238045723	11204898	12	26794											
PUM2	23369	broad.mit.edu;ucsc.edu	37	2	20451396	20451397	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:20451396_20451397TC>AT	ENST00000361078.2	-	20	3172_3173	c.3150_3151GA>AT	c.(3148-3153)aaGAat>aaATat	p.N1051Y	PUM2_ENST00000338086.5_Missense_Mutation_p.N1049Y|PUM2_ENST00000536417.1_Missense_Mutation_p.N993Y|PUM2_ENST00000403432.1_Missense_Mutation_p.N1049Y|PUM2_ENST00000319801.5_Missense_Mutation_p.N972Y			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	1051					regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.K1048K(1)|p.N1049Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGGCTATTCTTCAAATAAT	0.376																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.3150_3151delinsAT	2.37:g.20451396_20451397delinsAT	ENSP00000354370:p.Asn1051Tyr		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation|Silent	SNP	ENST00000361078.2	37																																																																																					0.376	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		AT	20451397	TC	AT	20451396	3	1	496	1	0	0	0	0	1	0	0	0	12832	1783	62	5	53	5	PUM2	2	20451396	Missense_Mutation	DNP	TC	TCGA-CJ-4644-01A-02D-1386-10		20451396	222747977	13	26795											
MPHOSPH10	10199	broad.mit.edu;hgsc.bcm.edu	37	2	71360677	71360677	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:71360677G>T	ENST00000244230.2	+	2	1091	c.739G>T	c.(739-741)Ggg>Tgg	p.G247W	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.G247W	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	247					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.G247W(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TGAAGATGAAGGGGGACTGTT	0.333																																																1	Substitution - Missense(1)	kidney(1)											69	76	74					2																	71360677		2202	4298	6500	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.739G>T	2.37:g.71360677G>T	ENSP00000244230:p.Gly247Trp		A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194517	0.22037	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.20332	2.7;2.08	4.88	4.0	0.46444	.	0.843870	0.10726	N	0.641135	T	0.47619	0.1455	M	0.78049	2.395	0.09310	N	1	D;D	0.76494	0.999;0.997	D;D	0.79784	0.993;0.936	T	0.26916	-1.0089	10	0.66056	D	0.02	.	11.507	0.50472	0.0898:0.0:0.9102:0.0	.	247;247	B3KPV5;O00566	.;MPP10_HUMAN	W	247;107	ENSP00000244230:G247W;ENSP00000393034:G107W	ENSP00000244230:G247W	G	+	1	0	MPHOSPH10	71214185	0.987000	0.35691	0.003000	0.11579	0.021000	0.10359	3.862000	0.56009	1.205000	0.43262	-0.439000	0.05793	GGG		0.333	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		T	71360677	G	T	71360677	3	4	496	1	0	0	0	0	1	0	0	0	9727	1000	35	4	745	4	MPHOSPH10	2	71360677	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	50909281	71360677	171838696	14	26796											
LIMS1	3987	broad.mit.edu	37	2	109293101	109293101	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:109293101C>T	ENST00000393310.1	+	7	852	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	LIMS1_ENST00000338045.3_Missense_Mutation_p.H229Y|LIMS1_ENST00000332345.6_Missense_Mutation_p.H229Y|LIMS1_ENST00000410093.1_Missense_Mutation_p.H233Y|LIMS1_ENST00000542845.1_Missense_Mutation_p.H291Y|AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000544547.1_Missense_Mutation_p.H241Y|LIMS1_ENST00000409441.1_Missense_Mutation_p.H266Y	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	229	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)	p.H291Y(1)|p.H229Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CTTTCTTGGACATCGCCATTA	0.348																																																2	Substitution - Missense(2)	kidney(2)											32	26	28					2																	109293101		2108	3921	6029	SO:0001583	missense	3987				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.685C>T	2.37:g.109293101C>T	ENSP00000376987:p.His229Tyr		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	ENST00000393310.1	37	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	c	28.5	4.929914	0.92389	.	.	ENSG00000169756	ENST00000544547;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845	D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.72	5.72	0.89469	Zinc finger, LIM-type (4);	0.000000	0.64402	D	0.000001	D	0.91136	0.7209	L	0.42529	1.33	0.80722	D	1	D;D;D;D	0.69078	0.997;0.967;0.985;0.985	D;P;P;P	0.66351	0.943;0.904;0.904;0.904	D	0.91352	0.5105	10	0.66056	D	0.02	.	19.8885	0.96919	0.0:1.0:0.0:0.0	.	291;266;229;241	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	Y	241;229;229;233;266;229;291	ENSP00000437912:H241Y;ENSP00000331775:H229Y;ENSP00000376987:H229Y;ENSP00000386926:H233Y;ENSP00000387264:H266Y;ENSP00000337598:H229Y;ENSP00000446121:H291Y	ENSP00000331775:H229Y	H	+	1	0	LIMS1	108659533	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.794000	0.85869	2.700000	0.92200	0.563000	0.77884	CAT		0.348	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		T	109293101	C	T	109293101	3	4	496	1	0	0	0	0	1	0	0	0	8805	478	17	2	707	2	LIMS1	2	109293101	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	37932424	109293101	133906272	15	26797											
HOXD3	3232	broad.mit.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	177033940	177033941	+	Missense_Mutation	DNP	GC	GC	CT	rs373609882		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:177033940_177033941GC>CT	ENST00000468418.3	+	3	2188_2189	c.98_99GC>CT	c.(97-99)gGC>gCT	p.G33A	HOXD3_ENST00000410016.1_Missense_Mutation_p.G33A|HOXD3_ENST00000249440.3_Missense_Mutation_p.G33A			P31249	HXD3_HUMAN	homeobox D3	33					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G33A(1)|p.G33G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GGAGGCTATGGCTACAGCAAAA	0.554																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	3232				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	Exception_encountered	2.37:g.177033940_177033941delinsCT	ENSP00000424734:p.Gly33Ala		Q99955|Q9BSC5	Missense_Mutation|Silent	SNP	ENST00000468418.3	37	CCDS2270.1																																																																																				0.554	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			CT	177033941	GC	CT	177033940	3	2	496	1	0	0	0	0	1	0	0	0	7325	1203	42	4	100	4	HOXD3	2	177033940	Missense_Mutation	DNP	GC	TCGA-CJ-4644-01A-02D-1386-10	67740839	177033940	66165433	16	26798											
TTN	7273	broad.mit.edu	37	2	179437576	179437576	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:179437576A>G	ENST00000591111.1	-	276	68584	c.68360T>C	c.(68359-68361)aTt>aCt	p.I22787T	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I21860T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15488T|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15555T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I15363T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I24428T			Q8WZ42	TITIN_HUMAN	titin	22787	Ig-like 117.				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)	p.I21858T(1)|p.I15555T(1)|p.I15363T(1)|p.I21860T(1)|p.I15488T(1)		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)			ATCCAGTTCAATTTCTGGAGG	0.498																																																5	Substitution - Missense(5)	kidney(5)											85	87	86					2																	179437576		1945	4153	6098	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68360T>C	2.37:g.179437576A>G	ENSP00000465570:p.Ile22787Thr		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	12.59	1.983237	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67171	-0.25;-0.03;-0.05;-0.06	5.91	5.91	0.95273	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76011	0.3928	M	0.92077	3.27	0.52501	D	0.999953	P;P;P;P	0.46395	0.877;0.877;0.877;0.792	B;B;B;B	0.40636	0.335;0.335;0.335;0.255	T	0.83306	-0.0025	9	0.87932	D	0	.	16.3436	0.83110	1.0:0.0:0.0:0.0	.	15363;15488;15555;22787	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	21860;15363;15555;15488;15361	ENSP00000343764:I21860T;ENSP00000434586:I15363T;ENSP00000340554:I15555T;ENSP00000352154:I15488T	ENSP00000340554:I15555T	I	-	2	0	TTN	179145822	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.281000	0.95811	2.269000	0.75478	0.533000	0.62120	ATT		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179437576	A	G	179437576	3	3	496	1	0	0	0	0	1	0	0	0	16740	101	4	3	34844	3	TTN	2	179437576	Missense_Mutation	SNP	A	TCGA-CJ-4644-01A-02D-1386-10	2403636	179437576	63761797	17	26799											
TTN	7273	broad.mit.edu;hgsc.bcm.edu	37	2	179449638	179449638	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:179449638C>T	ENST00000591111.1	-	260	60031	c.59807G>A	c.(59806-59808)tGc>tAc	p.C19936Y	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C19009Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C12637Y|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C12704Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C12512Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C21577Y			Q8WZ42	TITIN_HUMAN	titin	19936	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.C12637Y(1)|p.C19009Y(1)|p.C12512Y(1)|p.C12704Y(1)|p.C19007Y(1)		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)			TGACAGGGAGCAAGCATCAGC	0.498																																																5	Substitution - Missense(5)	kidney(5)											68	69	69					2																	179449638		1967	4159	6126	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59807G>A	2.37:g.179449638C>T	ENSP00000465570:p.Cys19936Tyr		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.78	3.472549	0.63737	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74596	0.3737	M	0.81614	2.55	0.80722	D	1	D;D;D;D	0.61697	0.99;0.99;0.99;0.99	P;P;P;P	0.62184	0.899;0.899;0.899;0.899	T	0.75622	-0.3254	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	12512;12637;12704;19936	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	19009;12512;12704;12637;12510	ENSP00000343764:C19009Y;ENSP00000434586:C12512Y;ENSP00000340554:C12704Y;ENSP00000352154:C12637Y	ENSP00000340554:C12704Y	C	-	2	0	TTN	179157884	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGC		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179449638	C	T	179449638	3	4	496	1	0	0	0	0	1	0	0	0	16740	710	25	2	43461	2	TTN	2	179449638	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	12062	179449638	63749735	18	26800											
OBSL1	23363	broad.mit.edu;hgsc.bcm.edu	37	2	220428159	220428159	+	Silent	SNP	C	C	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:220428159C>A	ENST00000404537.1	-	7	2654	c.2598G>T	c.(2596-2598)ctG>ctT	p.L866L	OBSL1_ENST00000373876.1_Silent_p.L866L|OBSL1_ENST00000603926.1_Silent_p.L866L|OBSL1_ENST00000289656.3_Silent_p.L453L|OBSL1_ENST00000373873.4_Silent_p.L866L|OBSL1_ENST00000265318.4_Silent_p.L866L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	866	Ig-like 6.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.L866L(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGGTGGCGGGCAGCACCAGGC	0.657																																																1	Substitution - coding silent(1)	kidney(1)											41	49	47					2																	220428159		2098	4208	6306	SO:0001819	synonymous_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2598G>T	2.37:g.220428159C>A			A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																				0.657	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			A	220428159	C	A	220428159	2	1	496	1	0	0	0	0	0	0	0	1	10815	697	25	4		4	OBSL1	2	220428159	Silent	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	40978521	220428159	22771214	19	26801											
RBM44	375316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238733023	238733023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:238733023C>T	ENST00000409864.1	+	10	2667	c.2413C>T	c.(2413-2415)Caa>Taa	p.Q805*	RBM44_ENST00000316997.4_Nonsense_Mutation_p.Q805*			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	804						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.Q805*(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACAGGGAAATCAAGTAGAACA	0.428																																																2	Substitution - Nonsense(2)	kidney(2)											116	119	118					2																	238733023		1937	4149	6086	SO:0001587	stop_gained	375316			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2413C>T	2.37:g.238733023C>T	ENSP00000386727:p.Gln805*		A0AUW3	Nonsense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	C	40	8.235951	0.98719	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	.	.	.	5.32	0.778	0.18543	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-0.0761	9.6993	0.40175	0.146:0.462:0.392:0.0	.	.	.	.	X	805	.	ENSP00000321179:Q805X	Q	+	1	0	RBM44	238397762	0.000000	0.05858	0.000000	0.03702	0.492000	0.33523	-0.109000	0.10840	0.541000	0.28827	0.650000	0.86243	CAA		0.428	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		T	238733023	C	T	238733023	4	4	496	1	0	0	0	0	0	1	0	0	13144	827	29	2	2447	2	RBM44	2	238733023	Nonsense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	18304864	238733023	4466350	20	26802											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191485	10191485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:10191485G>T	ENST00000256474.2	+	3	1318	c.478G>T	c.(478-480)Gag>Tag	p.E160*	VHL_ENST00000345392.2_Nonsense_Mutation_p.E119*|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	160	Interaction with Elongin BC complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E160K(5)|p.E160*(4)|p.E160fs*14(2)|p.E160fs*9(1)|p.K159fs*13(1)|p.V155_K159delVYTLK(1)|p.E160del(1)|p.L158fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TACTCTGAAAGAGCGATGCCT	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	16	Substitution - Missense(5)|Substitution - Nonsense(4)|Deletion - In frame(2)|Deletion - Frameshift(2)|Complex - frameshift(2)|Insertion - Frameshift(1)	kidney(15)|large_intestine(1)											91	83	86					3																	10191485		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.478G>T	3.37:g.10191485G>T	ENSP00000256474:p.Glu160*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833722	0.71258	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.86	3.98	0.46160	.	0.110897	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.3977	10.9704	0.47436	0.0909:0.0:0.9091:0.0	.	.	.	.	X	160;119;78	.	ENSP00000256474:E160X	E	+	1	0	VHL	10166485	1.000000	0.71417	0.991000	0.47740	0.649000	0.38597	7.062000	0.76706	1.404000	0.46819	0.655000	0.94253	GAG		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191485	G	T	10191485	4	4	496	1	0	0	0	0	0	1	0	0	17167	943	33	4	488	4	VHL	3	10191485	Nonsense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10		10191485	187830945	21	26803											
EOMES	8320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	27760303	27760303	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:27760303T>G	ENST00000295743.4	-	4	1443	c.1240A>C	c.(1240-1242)Aat>Cat	p.N414H	EOMES_ENST00000449599.1_Missense_Mutation_p.N414H|EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Missense_Mutation_p.N119H			O95936	EOMES_HUMAN	eomesodermin	414					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N414H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GAGGGCTCATTCAAGTCCTCC	0.443																																																1	Substitution - Missense(1)	kidney(1)											128	123	125					3																	27760303		2203	4300	6503	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1240A>C	3.37:g.27760303T>G	ENSP00000295743:p.Asn414His		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053595	0.36277	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.85955	-2.05;-2.05;-1.78	5.34	5.34	0.76211	p53-like transcription factor, DNA-binding (1);	0.285222	0.42964	D	0.000633	D	0.86280	0.5895	L	0.42632	1.34	0.48341	D	0.999633	B;P;D	0.54047	0.014;0.955;0.964	B;P;P	0.56751	0.005;0.706;0.805	T	0.82902	-0.0227	10	0.14656	T	0.56	.	15.646	0.77049	0.0:0.0:0.0:1.0	.	128;414;414	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	H	414;414;119;279	ENSP00000295743:N414H;ENSP00000388620:N414H;ENSP00000442097:N119H	ENSP00000295743:N414H	N	-	1	0	EOMES	27735307	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.290000	0.72712	2.164000	0.68074	0.533000	0.62120	AAT		0.443	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		G	27760303	T	G	27760303	3	3	496	1	0	0	0	0	1	0	0	0	5149	1783	62	5	832	5	EOMES	3	27760303	Missense_Mutation	SNP	T	TCGA-CJ-4644-01A-02D-1386-10	17568818	27760303	170262127	22	26804											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52702662	52702662	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:52702662C>T	ENST00000296302.7	-	3	238		c.e3-1		PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(5)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGGTTGATTTCTGttataatt	0.289			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	5	Unknown(5)	kidney(3)|liver(2)											38	37	37					3																	52702662		2202	4297	6499	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.237-1G>A	3.37:g.52702662C>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	23.3	4.399788	0.83120	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2406	0.93881	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52677702	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.093000	0.76937	2.629000	0.89072	0.655000	0.94253	.		0.289	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	T	52702662	C	T	52702662	5	4	496	1	0	0	0	0	0	0	1	0	11493	927	32	2	4776	2	PBRM1	3	52702662	Splice_Site	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	24942359	52702662	145319768	23	26805											
PDZRN3	23024	broad.mit.edu;hgsc.bcm.edu	37	3	73432856	73432856	+	Missense_Mutation	SNP	C	C	A	rs370428084		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:73432856C>A	ENST00000263666.4	-	10	2975	c.2861G>T	c.(2860-2862)cGc>cTc	p.R954L	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R611L|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R676L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R611L|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R671L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	954					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R954L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CATGCCGCTGCGCTCTTCCCG	0.657																																																1	Substitution - Missense(1)	kidney(1)						C	LEU/ARG	0,4406		0,0,2203	52	51	52		2861	5.3	1	3		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDZRN3	NM_015009.1	102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	954/1067	73432856	1,13005	2203	4300	6503	SO:0001583	missense	23024			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2861G>T	3.37:g.73432856C>A	ENSP00000263666:p.Arg954Leu		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.359221|4.359221	0.82353|0.82353	0.0|0.0	1.16E-4|1.16E-4	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.50277	.|0.75;0.75;0.75;0.75;0.75	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72684|0.72684	0.3491|0.3491	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;D	.|0.97110	.|1.0;0.998;1.0;0.994	T|T	0.77365|0.77365	-0.2615|-0.2615	5|10	.|0.87932	.|D	.|0	.|.	18.5104|18.5104	0.90914|0.90914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|676;671;671;954	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	S|L	270|954;676;611;611;671	.|ENSP00000263666:R954L;ENSP00000442026:R676L;ENSP00000418168:R611L;ENSP00000418484:R611L;ENSP00000418624:R671L	.|ENSP00000263666:R954L	A|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73515546|73515546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.763000|0.763000	0.43281|0.43281	7.455000|7.455000	0.80726|0.80726	2.452000|2.452000	0.82932|0.82932	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.657	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		A	73432856	C	A	73432856	3	1	496	1	0	0	0	0	1	0	0	0	11711	768	27	4	343	4	PDZRN3	3	73432856	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	20730194	73432856	124589574	24	26806											
ISY1	57461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128848936	128848936	+	Silent	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:128848936G>A	ENST00000393295.3	-	11	1163	c.846C>T	c.(844-846)ctC>ctT	p.L282L	ISY1-RAB43_ENST00000418265.1_Silent_p.L282L|ISY1_ENST00000273541.8_Silent_p.L304L|ISY1_ENST00000393292.3_3'UTR|ISY1_ENST00000471497.1_5'UTR	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	282					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)	p.L282L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						AATACCCCAGGAGCCTTCTGG	0.577																																																1	Substitution - coding silent(1)	kidney(1)											89	93	92					3																	128848936		1883	4104	5987	SO:0001819	synonymous_variant	57461				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 33"	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.846C>T	3.37:g.128848936G>A			Q96IL2|Q9BT05	Silent	SNP	ENST00000393295.3	37	CCDS43149.1																																																																																				0.577	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		A	128848936	G	A	128848936	2	1	496	1	0	0	0	0	0	0	0	1	7868	1161	41	2		2	ISY1	3	128848936	Silent	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	55416080	128848936	69173494	25	26807											
C3orf72	401089	hgsc.bcm.edu;ucsc.edu	37	3	138668458	138668467	+	Frame_Shift_Del	DEL	GGCATTCGAA	GGCATTCGAA	-	rs141282655	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	GGCATTCGAA	GGCATTCGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:138668458_138668467delGGCATTCGAA	ENST00000383165.3	+	2	328_337	c.197_206delGGCATTCGAA	c.(196-207)cggcattcgaagfs	p.RHSK66fs	FOXL2_ENST00000330315.3_5'Flank	NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		66								p.H67L(1)		large_intestine(1)|lung(3)	4						ATGGCTGTCCGGCATTCGAAGGCTCAGAAA	0.576														45	0.00898562	0.0015	0.013	5008	,	,		16507	0.0		0.0278	False		,,,				2504	0.0061															1	Substitution - Missense(1)	lung(1)								15,3715		0,15,1850						-5.5	0		dbSNP_134	72	140,7790		0,140,3825	no	frameshift	C3orf72	NM_001040061.2		0,155,5675	A1A1,A1R,RR		1.7654,0.4021,1.3293				155,11505				SO:0001589	frameshift_variant	401089																														ENST00000383165.3:c.197_206delGGCATTCGAA	3.37:g.138668458_138668467delGGCATTCGAA	ENSP00000372651:p.Arg66fs		A6NGX0	Frame_Shift_Del	DEL	ENST00000383165.3	37	CCDS43155.1																																																																																				0.576	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			-	138668467	GGCATTCGAA	-	138668458	7	5	496	1	0	1	0	1	0	0	0	0	2246	1116	39	0	203	0	C3orf72	3	138668458	Frame_Shift_Del	DEL	GGCATTCGAA	TCGA-CJ-4644-01A-02D-1386-10	9819522	138668458	59353972	26	26808											
TMEM41A	90407	hgsc.bcm.edu	37	3	185212513	185212513	+	Silent	SNP	A	A	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:185212513A>G	ENST00000421852.1	-	4	567	c.472T>C	c.(472-474)Ttg>Ctg	p.L158L	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	158						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTCAAAAACAATAAGAAAAAA	0.428																																																0													120	124	122					3																	185212513		2203	4300	6503	SO:0001819	synonymous_variant	90407			BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.472T>C	3.37:g.185212513A>G			A8K4B3|D3DNU2|Q6ZMJ0	Silent	SNP	ENST00000421852.1	37	CCDS3271.1																																																																																				0.428	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		G	185212513	A	G	185212513	2	3	496	1	0	0	0	0	0	0	0	1	16169	98	4	3		3	TMEM41A	3	185212513	Silent	SNP	A	TCGA-CJ-4644-01A-02D-1386-10	46544055	185212513	12809917	27	26809											
PCDHA6	56142	broad.mit.edu;hgsc.bcm.edu	37	5	140209499	140209499	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr5:140209499C>T	ENST00000529310.1	+	1	1937	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S608L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.662																																																2	Substitution - Missense(2)	kidney(2)											81	82	82					5																	140209499		2203	4300	6503	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1823C>T	5.37:g.140209499C>T	ENSP00000433378:p.Ser608Leu		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533355	0.27387	.	.	ENSG00000081842	ENST00000529310	T	0.54071	0.59	3.87	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.000000	0.33419	U	0.004940	T	0.69242	0.3089	M	0.77486	2.375	0.33591	D	0.601142	D;D	0.71674	0.998;0.998	P;D	0.62955	0.897;0.909	T	0.80384	-0.1405	10	0.62326	D	0.03	.	13.8911	0.63740	0.0:0.7704:0.2296:0.0	.	608;608	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	L	608	ENSP00000433378:S608L	ENSP00000433378:S608L	S	+	2	0	PCDHA6	140189683	0.000000	0.05858	0.950000	0.38849	0.281000	0.26958	0.087000	0.14958	2.158000	0.67659	0.306000	0.20318	TCG		0.662	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		T	140209499	C	T	140209499	3	4	496	1	0	0	0	0	1	0	0	0	11530	893	31	1	1825	1	PCDHA6	5	140209499	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10		140209499	40705761	28	26810											
ZNF354A	6940	hgsc.bcm.edu;ucsc.edu	37	5	178139394	178139394	+	Silent	SNP	T	T	C	rs191516498	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr5:178139394T>C	ENST00000335815.2	-	5	1682	c.1485A>G	c.(1483-1485)aaA>aaG	p.K495K		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	495					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACTCGTTACATTTATAGGGTC	0.393																																																0													121	118	119					5																	178139394		2203	4300	6503	SO:0001819	synonymous_variant	6940			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1485A>G	5.37:g.178139394T>C			Q9UNJ8	Silent	SNP	ENST00000335815.2	37	CCDS4438.1																																																																																				0.393	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		C	178139394	T	C	178139394	2	2	496	1	0	0	0	0	0	0	0	1	17869	1490	52	3		3	ZNF354A	5	178139394	Silent	SNP	T	TCGA-CJ-4644-01A-02D-1386-10	37929895	178139394	2775866	29	26811											
SLC35B3	51000	broad.mit.edu;hgsc.bcm.edu	37	6	8422813	8422813	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr6:8422813C>T	ENST00000379660.4	-	5	913	c.464G>A	c.(463-465)gGt>gAt	p.G155D	SLC35B3_ENST00000339306.5_Missense_Mutation_p.G155D	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	155					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G155D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					CCCCATAGTACCCACAGTTAG	0.373																																					Melanoma(83;700 1353 9357 11478 30548)											1	Substitution - Missense(1)	kidney(1)											118	112	114					6																	8422813		2203	4300	6503	SO:0001583	missense	51000			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"Solute carriers"	21601	protein-coding gene	gene with protein product	"3' phosphoadenosine 5' phosphosulfate transporter 2"	610845	"chromosome 6 open reading frame 196", "solute carrier family 35, member B3"	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.464G>A	6.37:g.8422813C>T	ENSP00000368981:p.Gly155Asp		A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032187	0.75504	.	.	ENSG00000124786	ENST00000379660;ENST00000339306	T;T	0.30981	1.51;1.51	5.02	5.02	0.67125	.	0.047659	0.85682	D	0.000000	T	0.49321	0.1550	M	0.84326	2.69	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.69654	0.965;0.965	T	0.52837	-0.8522	9	.	.	.	-9.2805	14.3401	0.66619	0.0:0.8518:0.1482:0.0	.	155;155	Q9H1N7;B2R8V5	S35B3_HUMAN;.	D	155	ENSP00000368981:G155D;ENSP00000345902:G155D	.	G	-	2	0	SLC35B3	8367812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.788000	0.55446	2.498000	0.84270	0.585000	0.79938	GGT		0.373	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948		T	8422813	C	T	8422813	3	4	496	1	0	0	0	0	1	0	0	0	14583	507	18	2	769	2	SLC35B3	6	8422813	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10		8422813	162692254	30	26812											
TCP11	6954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35086049	35086049	+	Silent	SNP	A	A	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr6:35086049A>G	ENST00000512012.1	-	9	1665	c.1509T>C	c.(1507-1509)gtT>gtC	p.V503V	TCP11_ENST00000412155.2_Silent_p.V465V|TCP11_ENST00000311875.5_Silent_p.V516V|TCP11_ENST00000244645.3_Silent_p.V441V|TCP11_ENST00000373974.4_Silent_p.V470V|TCP11_ENST00000444780.2_Silent_p.V511V|TCP11_ENST00000373979.2_Silent_p.V441V|TCP11_ENST00000418521.2_Silent_p.V440V			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	503					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.V516V(1)|p.V441V(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GACGCTATCAAACAGACTCCA	0.512																																																2	Substitution - coding silent(2)	kidney(2)											121	122	122					6																	35086049		2203	4300	6503	SO:0001819	synonymous_variant	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1509T>C	6.37:g.35086049A>G			B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	37																																																																																					0.512	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		G	35086049	A	G	35086049	2	3	496	1	0	0	0	0	0	0	0	1	15718	1	1	3		3	TCP11	6	35086049	Silent	SNP	A	TCGA-CJ-4644-01A-02D-1386-10	26663236	35086049	136029018	31	26813											
KLHL31	401265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	53516418	53516418	+	Missense_Mutation	SNP	G	G	T	rs12204882		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr6:53516418G>T	ENST00000407079.1	-	2	1882	c.1883C>A	c.(1882-1884)tCt>tAt	p.S628Y	KLHL31_ENST00000370905.3_Missense_Mutation_p.S628Y			Q9H511	KLH31_HUMAN	kelch-like family member 31	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.S628Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGGCACAGAAGATACCGAACT	0.572											OREG0017507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											95	88	91					6																	53516418		2203	4300	6503	SO:0001583	missense	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1883C>A	6.37:g.53516418G>T	ENSP00000384644:p.Ser628Tyr	993	A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662855	0.67700	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.70631	-0.5;-0.5	5.87	5.87	0.94306	.	0.051462	0.85682	D	0.000000	T	0.70378	0.3217	L	0.50333	1.59	0.80722	D	1	D	0.55385	0.971	P	0.50440	0.641	T	0.71481	-0.4580	10	0.59425	D	0.04	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	628	Q9H511	KLH31_HUMAN	Y	628	ENSP00000359942:S628Y;ENSP00000384644:S628Y	ENSP00000359942:S628Y	S	-	2	0	KLHL31	53624377	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	9.805000	0.99149	2.941000	0.99782	0.655000	0.94253	TCT		0.572	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		T	53516418	G	T	53516418	3	4	496	1	0	0	0	0	1	0	0	0	8387	942	33	4	25	4	KLHL31	6	53516418	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	18430369	53516418	117598649	32	26814											
PILRB	29990	hgsc.bcm.edu	37	7	99956439	99956439	+	Missense_Mutation	SNP	T	T	C	rs35986051	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr7:99956439T>C	ENST00000452089.1	+	7	1250	c.191T>C	c.(190-192)gTt>gCt	p.V64A	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000609309.1_Missense_Mutation_p.V64A|PILRB_ENST00000610247.1_Missense_Mutation_p.V64A|PILRB_ENST00000444073.1_Missense_Mutation_p.V64A|PILRB_ENST00000448382.1_Intron			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	64	Ig-like V-type.			IVPN -> TAPD (in Ref. 2; CAC19193). {ECO:0000305}.	activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTAGCCATAGTTCCCAACGTG	0.532													N|||	390	0.0778754	0.0703	0.0764	5008	,	,		18897	0.0228		0.1402	False		,,,				2504	0.0818															0													70	70	70					7																	99956439		2196	4271	6467	SO:0001583	missense	29990			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"Immunoglobulin superfamily / V-set domain containing"	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.191T>C	7.37:g.99956439T>C	ENSP00000391748:p.Val64Ala		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	CCDS43622.1	172	0.07875457875457875	34	0.06910569105691057	28	0.07734806629834254	12	0.02097902097902098	98	0.12928759894459102	t	0.252	-1.005939	0.02112	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	2.32	-2.11	0.07187	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.507400	0.04113	N	0.315070	T	0.00109	0.0003	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25710	-1.0124	9	.	.	.	.	0.2801	0.00243	0.2551:0.2076:0.1478:0.3896	rs35986051;rs61730162	64	Q9UKJ0	PILRB_HUMAN	A	64;64;64;64;64;64;64;64;169;64	ENSP00000311153:V64A;ENSP00000391748:V64A;ENSP00000411261:V64A;ENSP00000403757:V64A;ENSP00000404321:V64A;ENSP00000389856:V64A;ENSP00000410764:V64A;ENSP00000408425:V64A	.	V	+	2	0	PILRB	99794375	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.052000	0.14163	-0.935000	0.03728	-1.886000	0.00541	GTT		0.532	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		C	99956439	T	C	99956439	3	2	496	1	0	0	0	0	1	0	0	0	11928	1725	60	3	197	3	PILRB	7	99956439	Missense_Mutation	SNP	T	TCGA-CJ-4644-01A-02D-1386-10		99956439	59182224	33	26815											
SLC26A4	5172	broad.mit.edu;hgsc.bcm.edu	37	7	107329537	107329537	+	Silent	SNP	G	G	A	rs140778437		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr7:107329537G>A	ENST00000265715.3	+	9	1265	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	SLC26A4_ENST00000544569.1_5'Flank|SLC26A4_ENST00000541474.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	347					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.S347S(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTGTTCTCGGAGATGCTGG	0.438									Pendred syndrome																																							1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	165	153	157		1041	-11.2	0.1	7	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC26A4	NM_000441.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		347/781	107329537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1041G>A	7.37:g.107329537G>A			B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																				0.438	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		A	107329537	G	A	107329537	2	1	496	1	0	0	0	0	0	0	0	1	14525	1103	39	1		1	SLC26A4	7	107329537	Silent	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	7373098	107329537	51809126	34	26816											
CDCA2	157313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	25364809	25364809	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr8:25364809C>T	ENST00000330560.3	+	15	3104	c.2627C>T	c.(2626-2628)gCc>gTc	p.A876V	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.A861V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	876					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A876V(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTGTCTGATGCCATTGAGCAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											68	71	70					8																	25364809		2203	4300	6503	SO:0001583	missense	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2627C>T	8.37:g.25364809C>T	ENSP00000328228:p.Ala876Val		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	c	14.05	2.420230	0.42918	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.39056	1.1;1.1	5.81	4.94	0.65067	.	0.815366	0.11470	N	0.560890	T	0.39200	0.1069	L	0.29908	0.895	0.09310	N	1	P;P	0.42296	0.775;0.775	B;B	0.43916	0.436;0.436	T	0.26573	-1.0099	10	0.66056	D	0.02	4.0E-4	12.5017	0.55960	0.167:0.833:0.0:0.0	.	861;876	E9PEI0;Q69YH5	.;CDCA2_HUMAN	V	876;861;275	ENSP00000328228:A876V;ENSP00000370040:A861V	ENSP00000328228:A876V	A	+	2	0	CDCA2	25420726	0.052000	0.20516	0.149000	0.22428	0.125000	0.20455	1.633000	0.37113	1.477000	0.48234	-0.127000	0.14921	GCC		0.393	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		T	25364809	C	T	25364809	3	4	496	1	0	0	0	0	1	0	0	0	3088	739	26	2	2681	2	CDCA2	8	25364809	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10		25364809	120999213	35	26817											
NKAIN3	286183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	63902748	63902748	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr8:63902748G>T	ENST00000523211.1	+	6	686	c.554G>T	c.(553-555)tGc>tTc	p.C185F	NKAIN3_ENST00000328472.5_Missense_Mutation_p.C185F	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C185F(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ctgcaagtatgcaaacatctt	0.289																																																1	Substitution - Missense(1)	kidney(1)											50	44	46					8																	63902748		1813	4065	5878	SO:0001583	missense	286183			AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"Na+/K+ transporting ATPase interacting"	26829	protein-coding gene	gene with protein product		612872	"family with sequence similarity 77, member D"	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.554G>T	8.37:g.63902748G>T	ENSP00000429073:p.Cys185Phe			Missense_Mutation	SNP	ENST00000523211.1	37	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	4.281	0.051376	0.08291	.	.	ENSG00000185942	ENST00000523211;ENST00000328472	T;T	0.13307	2.6;2.6	1.52	0.265	0.15612	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34850	-0.9812	9	0.56958	D	0.05	.	4.6899	0.12776	0.0:0.0:0.4212:0.5788	.	185	Q8N8D7	NKAI3_HUMAN	F	185	ENSP00000429073:C185F;ENSP00000333627:C185F	ENSP00000333627:C185F	C	+	2	0	NKAIN3	64065302	0.001000	0.12720	0.002000	0.10522	0.074000	0.17049	0.044000	0.13992	0.047000	0.15862	0.563000	0.77884	TGC		0.289	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		T	63902748	G	T	63902748	3	4	496	1	0	0	0	0	1	0	0	0	10439	1319	46	4	576	4	NKAIN3	8	63902748	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	38537939	63902748	82461274	36	26818											
PABPC1	26986	hgsc.bcm.edu	37	8	101718965	101718965	+	Missense_Mutation	SNP	G	G	A	rs62513921		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr8:101718965G>A	ENST00000318607.5	-	11	2644	c.1516C>T	c.(1516-1518)Cgc>Tgc	p.R506C	PABPC1_ENST00000519596.1_Intron|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Missense_Mutation_p.R461C|PABPC1_ENST00000522387.1_Missense_Mutation_p.R474C	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	506					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GGAACGGTGCGGACAGCAGGA	0.438																																																0													62	58	59					8																	101718965		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1516C>T	8.37:g.101718965G>A	ENSP00000313007:p.Arg506Cys		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966636	0.53507	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.4	4.52	0.55395	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.087768	0.45606	D	0.000353	T	0.50820	0.1638	M	0.68952	2.095	0.80722	D	1	P;B;D	0.55172	0.928;0.016;0.97	P;B;P	0.52856	0.711;0.017;0.62	T	0.54214	-0.8327	10	0.62326	D	0.03	.	9.4895	0.38951	0.0721:0.0:0.7865:0.1414	rs62513921	474;506;506	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	C	506;461;474;15;53	ENSP00000313007:R506C;ENSP00000429594:R461C;ENSP00000429395:R474C;ENSP00000428030:R15C;ENSP00000428840:R53C	ENSP00000313007:R506C	R	-	1	0	PABPC1	101788141	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.013000	0.70776	1.427000	0.47276	-0.150000	0.13652	CGC		0.438	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		A	101718965	G	A	101718965	3	1	496	1	0	0	0	0	1	0	0	0	11365	1116	39	1	410	1	PABPC1	8	101718965	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	37816217	101718965	44645057	37	26819	202	2									
PABPC1	26986	hgsc.bcm.edu	37	8	101718968	101718968	+	Missense_Mutation	SNP	C	C	T	rs62513922		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr8:101718968C>T	ENST00000318607.5	-	11	2641	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I	PABPC1_ENST00000519596.1_Intron|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Missense_Mutation_p.V460I|PABPC1_ENST00000522387.1_Missense_Mutation_p.V473I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	505					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACGGTGCGGACAGCAGGAGTA	0.443																																																0													60	56	58					8																	101718968		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1513G>A	8.37:g.101718968C>T	ENSP00000313007:p.Val505Ile		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873827	0.91664	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.4	5.4	0.78164	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.000000	0.52532	D	0.000070	T	0.44159	0.1280	M	0.63843	1.955	0.54753	D	0.999987	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.12837	0.008;0.008;0.008	T	0.30534	-0.9975	10	0.22109	T	0.4	.	19.5279	0.95213	0.0:1.0:0.0:0.0	rs62513922	473;505;505	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	I	505;460;473;14;52	ENSP00000313007:V505I;ENSP00000429594:V460I;ENSP00000429395:V473I;ENSP00000428030:V14I;ENSP00000428840:V52I	ENSP00000313007:V505I	V	-	1	0	PABPC1	101788144	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.233000	0.78125	2.706000	0.92434	0.655000	0.94253	GTC		0.443	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		T	101718968	C	T	101718968	3	4	496	1	0	0	0	0	1	0	0	0	11365	478	17	2	413	2	PABPC1	8	101718968	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	3	101718968	44645054	38	26820	202	2									
PRSS3	5646	hgsc.bcm.edu	37	9	33798079	33798079	+	Splice_Site	SNP	T	T	C	rs144845866	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr9:33798079T>C	ENST00000361005.5	+	3	624	c.624T>C	c.(622-624)ggT>ggC	p.G208G	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Splice_Site_p.G165G|PRSS3_ENST00000379405.3_Splice_Site_p.G151G|PRSS3_ENST00000429677.3_Splice_Site_p.G144G	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TGAGCTTTGGTGGTGAGTGGG	0.562																																																0													120	103	109					9																	33798079		2203	4300	6503	SO:0001630	splice_region_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.625+1T>C	9.37:g.33798079T>C			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.562	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	Silent	C	33798079	T	C	33798079	5	2	496	1	0	0	0	0	0	0	1	0	12627	1710	59	3	678	3	PRSS3	9	33798079	Splice_Site	SNP	T	TCGA-CJ-4644-01A-02D-1386-10		33798079	107415352	39	26821											
PRUNE2	158471	hgsc.bcm.edu;ucsc.edu	37	9	79323220	79323220	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr9:79323220delT	ENST00000376718.3	-	8	4093	c.3970delA	c.(3970-3972)agtfs	p.S1324fs	PRUNE2_ENST00000428286.1_Frame_Shift_Del_p.S965fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1324					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCACTTTCACTTTGTCCATCG	0.532																																																0													66	61	63					9																	79323220		1568	3582	5150	SO:0001589	frameshift_variant	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3970delA	9.37:g.79323220delT	ENSP00000365908:p.Ser1324fs		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Del	DEL	ENST00000376718.3	37	CCDS47982.1																																																																																				0.532	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		-	79323220	T	-	79323220	7	5	496	1	0	1	0	1	0	0	0	0	12646	1609	56	0	5344	0	PRUNE2	9	79323220	Frame_Shift_Del	DEL	T	TCGA-CJ-4644-01A-02D-1386-10	45525141	79323220	61890211	40	26822											
MED27	9442	broad.mit.edu	37	9	134735980	134735980	+	Missense_Mutation	SNP	G	G	A	rs557626461	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr9:134735980G>A	ENST00000292035.5	-	8	944	c.881C>T	c.(880-882)cCg>cTg	p.P294L	MED27_ENST00000357028.2_Missense_Mutation_p.P258L	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	294					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.P294L(4)|p.P294fs*>18(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CCTCCATGTCGGGGGAAGGCC	0.597													G|||	40	0.00798722	0.003	0.0072	5008	,	,		18345	0.0		0.0169	False		,,,				2504	0.0143				Colon(41;784 923 6932 42329 52483)											5	Substitution - Missense(4)|Deletion - Frameshift(1)	endometrium(2)|kidney(2)|large_intestine(1)											30	29	29					9																	134735980		2203	4300	6503	SO:0001583	missense	9442			AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.881C>T	9.37:g.134735980G>A	ENSP00000292035:p.Pro294Leu		O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095595	0.94197	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.86894	0.2050	9	0.87932	D	0	-0.1478	16.105	0.81213	0.0:0.0:1.0:0.0	.	258;294	Q6P2C8-2;Q6P2C8	.;MED27_HUMAN	L	294;220;258	.	ENSP00000292035:P294L	P	-	2	0	MED27	133725801	1.000000	0.71417	0.949000	0.38748	0.987000	0.75469	7.762000	0.85270	2.472000	0.83506	0.655000	0.94253	CCG		0.597	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		A	134735980	G	A	134735980	3	1	496	1	0	0	0	0	1	0	0	0	9447	1116	39	1	58	1	MED27	9	134735980	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	55412760	134735980	6477451	41	26823											
PTCHD3	374308	broad.mit.edu;hgsc.bcm.edu	37	10	27702370	27702370	+	Silent	SNP	G	G	A	rs376677291		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr10:27702370G>A	ENST00000438700.3	-	1	927	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	270					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.Y270Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCCAGGCGTACAGGATCG	0.627																																																1	Substitution - coding silent(1)	kidney(1)						A		1,4405	2.1+/-5.4	0,1,2202	52	57	55		810	0.1	0	10		55	0,8600		0,0,4300	no	coding-synonymous	PTCHD3	NM_001034842.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		270/768	27702370	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.810C>T	10.37:g.27702370G>A			I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																				0.627	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		A	27702370	G	A	27702370	2	1	496	1	0	0	0	0	0	0	0	1	12739	1140	40	1		1	PTCHD3	10	27702370	Silent	SNP	G	TCGA-CJ-4644-01A-02D-1386-10		27702370	107832377	42	26824											
MUC2	4583	broad.mit.edu;hgsc.bcm.edu	37	11	1093272	1093272	+	Silent	SNP	A	A	C	rs56230143		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:1093272A>C	ENST00000441003.2	+	30	5118	c.5091A>C	c.(5089-5091)acA>acC	p.T1697T	MUC2_ENST00000359061.5_Silent_p.T1664T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1664T(2)|p.T1697T(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	agaccccaacatcgacaccca	0.637																																																4	Substitution - coding silent(4)	kidney(2)|endometrium(2)											128	167	153					11																	1093272		1845	3351	5196	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5091A>C	11.37:g.1093272A>C			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093272	A	C	1093272	2	2	496	1	0	0	0	0	0	0	0	1	9977	204	8	5		5	MUC2	11	1093272	Silent	SNP	A	TCGA-CJ-4644-01A-02D-1386-10		1093272	133913244	43	26825											
MUC2	4583	hgsc.bcm.edu	37	11	1093569	1093569	+	Silent	SNP	A	A	C	rs72842460	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:1093569A>C	ENST00000441003.2	+	30	5415	c.5388A>C	c.(5386-5388)acA>acC	p.T1796T	MUC2_ENST00000359061.5_Silent_p.T1752T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T84T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	tcaccaccacaactacGGTGA	0.587																																																0													87	116	106					11																	1093569		2190	4268	6458	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5388A>C	11.37:g.1093569A>C			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.587	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1093569	A	C	1093569	2	2	496	1	0	0	0	0	0	0	0	1	9977	117	5	5		5	MUC2	11	1093569	Silent	SNP	A	TCGA-CJ-4644-01A-02D-1386-10	297	1093569	133912947	44	26826											
INSC	387755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	15222420	15222420	+	Silent	SNP	G	G	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:15222420G>C	ENST00000379554.3	+	7	931	c.885G>C	c.(883-885)cgG>cgC	p.R295R	INSC_ENST00000530161.1_Silent_p.R248R|INSC_ENST00000379556.3_Silent_p.R248R|INSC_ENST00000447214.2_Intron|INSC_ENST00000424273.1_Intron|INSC_ENST00000525218.1_Intron|INSC_ENST00000528567.1_Silent_p.R248R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	295					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.R295R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACAGTTTCCGGTGCTTGTACC	0.587																																																1	Substitution - coding silent(1)	kidney(1)											89	89	89					11																	15222420		2071	4228	6299	SO:0001819	synonymous_variant	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.885G>C	11.37:g.15222420G>C			A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	CCDS41621.1																																																																																				0.587	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		C	15222420	G	C	15222420	2	2	496	1	0	0	0	0	0	0	0	1	7766	1248	44	4		4	INSC	11	15222420	Silent	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	14128851	15222420	119784096	45	26827											
ARL2	402	broad.mit.edu;hgsc.bcm.edu	37	11	64786159	64786159	+	Missense_Mutation	SNP	G	G	A	rs571758436		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:64786159G>A	ENST00000246747.4	+	3	388	c.293G>A	c.(292-294)cGc>cAc	p.R98H	ARL2_ENST00000533729.1_Missense_Mutation_p.R98H|RP11-399J13.3_ENST00000301886.3_Missense_Mutation_p.R98H|ARL2_ENST00000529384.1_Missense_Mutation_p.R98H	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	98					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)	p.R98H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GACCGCCAGCGCATGCAGGAC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		20729	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											51	52	51					11																	64786159		2200	4297	6497	SO:0001583	missense	402			AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.293G>A	11.37:g.64786159G>A	ENSP00000246747:p.Arg98His		G3V184|Q9BUK8	Missense_Mutation	SNP	ENST00000246747.4	37	CCDS8088.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387341	0.95988	.	.	ENSG00000213465	ENST00000246747;ENST00000529384;ENST00000533729	T;T;T	0.79454	-1.27;-1.27;-1.27	4.82	4.82	0.62117	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	D	0.92146	0.7510	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.986	D	0.94614	0.7807	10	0.87932	D	0	-5.9605	15.4383	0.75162	0.0:0.0:1.0:0.0	.	98;98	B4DGG0;P36404	.;ARL2_HUMAN	H	98	ENSP00000246747:R98H;ENSP00000436021:R98H;ENSP00000432971:R98H	ENSP00000246747:R98H	R	+	2	0	ARL2	64542735	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.204000	0.77872	2.523000	0.85059	0.650000	0.86243	CGC		0.617	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1	NM_001667		A	64786159	G	A	64786159	3	1	496	1	0	0	0	0	1	0	0	0	933	1087	38	1	303	1	ARL2	11	64786159	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	49563739	64786159	70220357	46	26828											
FAM86C	55199	hgsc.bcm.edu	37	11	71504464	71504464	+	Silent	SNP	C	C	T	rs139287982	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:71504464C>T	ENST00000359244.4	+	3	221	c.198C>T	c.(196-198)taC>taT	p.Y66Y	FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	66										lung(1)	1						ATGAGCTGTACGAGGTGCTGG	0.567													.|||	316	0.063099	0.0499	0.0591	5008	,	,		19080	0.0933		0.0577	False		,,,				2504	0.0583															0								C	,,	79,4231		2,75,2078	41	39	40		,198,	-0.8	0.3	11	dbSNP_134	40	211,8365		3,205,4080	no	intron,coding-synonymous,intron	FAM86C1	NM_001099653.1,NM_018172.2,NM_152563.2	,,	5,280,6158	TT,TC,CC		2.4604,1.8329,2.2505	,,	,66/166,	71504464	290,12596	2155	4288	6443	SO:0001819	synonymous_variant	0			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.198C>T	11.37:g.71504464C>T			Q8N5D3	Silent	SNP	ENST00000359244.4	37	CCDS41686.1																																																																																				0.567	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		T	71504464	C	T	71504464	2	4	496	1	0	0	0	0	0	0	0	1	5648	547	19	1		1	FAM86C	11	71504464	Silent	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	6718305	71504464	63502052	47	26829											
DIXDC1	85458	hgsc.bcm.edu;ucsc.edu	37	11	111835364	111835365	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:111835364_111835365insC	ENST00000529225.1	+	3	429_430	c.149_150insC	c.(148-153)cgggatfs	p.D51fs	DIXDC1_ENST00000440460.2_Frame_Shift_Ins_p.D52fs|DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Frame_Shift_Ins_p.D52fs	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	52	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAAGATCTCCGGGATGGGGTGA	0.515																																																0																																										SO:0001589	frameshift_variant	85458			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	Exception_encountered	11.37:g.111835364_111835365insC	ENSP00000434130:p.Asp51fs		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Frame_Shift_Ins	INS	ENST00000529225.1	37																																																																																					0.515	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1	NM_001037954		C	111835365	-	C	111835364	7	5	496	1	0	1	1	0	0	0	0	0	4543	1116	39	0	158	0	DIXDC1	11	111835364	Frame_Shift_Ins	INS	-	TCGA-CJ-4644-01A-02D-1386-10	40330900	111835364	23171152	48	26830	203	2									
DIXDC1	85458	hgsc.bcm.edu	37	11	111835369	111835369	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:111835369delG	ENST00000529225.1	+	3	434	c.154delG	c.(154-156)gggfs	p.G52fs	DIXDC1_ENST00000440460.2_Frame_Shift_Del_p.G53fs|DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Frame_Shift_Del_p.G53fs	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	53	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TCTCCGGGATGGGGTGATCCT	0.522																																																0													66	71	69					11																	111835369		1953	4149	6102	SO:0001589	frameshift_variant	85458			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000529225.1:c.154delG	11.37:g.111835369delG	ENSP00000434130:p.Gly52fs		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Frame_Shift_Del	DEL	ENST00000529225.1	37																																																																																					0.522	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1	NM_001037954		-	111835369	G	-	111835369	7	5	496	1	0	1	0	1	0	0	0	0	4543	1348	47	0	163	0	DIXDC1	11	111835369	Frame_Shift_Del	DEL	G	TCGA-CJ-4644-01A-02D-1386-10	5	111835369	23171147	49	26831	203	2									
PYROXD1	79912	broad.mit.edu;hgsc.bcm.edu	37	12	21621622	21621622	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr12:21621622G>C	ENST00000240651.9	+	12	1491	c.1437G>C	c.(1435-1437)atG>atC	p.M479I	PYROXD1_ENST00000538582.1_Missense_Mutation_p.M408I	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	479							oxidoreductase activity (GO:0016491)	p.M479I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TAAACCAAATGAATCTTTCAT	0.318																																																1	Substitution - Missense(1)	kidney(1)											40	38	38					12																	21621622		2202	4297	6499	SO:0001583	missense	79912			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.1437G>C	12.37:g.21621622G>C	ENSP00000240651:p.Met479Ile		A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	ENST00000240651.9	37	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086648	0.20390	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	.	.	.	5.02	5.02	0.67125	.	0.038262	0.85682	D	0.000000	T	0.40247	0.1109	N	0.17674	0.51	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34976	-0.9807	9	0.02654	T	1	.	17.7046	0.88305	0.0:0.0:1.0:0.0	.	479	Q8WU10	PYRD1_HUMAN	I	185;479;408	.	ENSP00000240651:M479I	M	+	3	0	PYROXD1	21512889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.362000	0.66098	2.477000	0.83638	0.563000	0.77884	ATG		0.318	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854		C	21621622	G	C	21621622	3	2	496	1	0	0	0	0	1	0	0	0	12872	1290	45	4	1483	4	PYROXD1	12	21621622	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10		21621622	112230273	50	26832											
IPO8	10526	hgsc.bcm.edu	37	12	30790090	30790090	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr12:30790090G>T	ENST00000256079.4	-	22	2859	c.2521C>A	c.(2521-2523)Ctg>Atg	p.L841M	IPO8_ENST00000544829.1_Missense_Mutation_p.L636M	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	841					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGGATACTCAGTCCTATTATA	0.388																																																0													131	118	122					12																	30790090		2203	4300	6503	SO:0001583	missense	10526			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2521C>A	12.37:g.30790090G>T	ENSP00000256079:p.Leu841Met		B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280174	0.59758	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.74315	-0.83;-0.83	5.36	2.44	0.29823	Armadillo-like helical (1);Armadillo-type fold (1);	0.140875	0.49305	N	0.000145	D	0.84781	0.5548	M	0.87547	2.89	0.52501	D	0.999957	D;D;D	0.89917	0.999;1.0;0.989	D;D;D	0.91635	0.982;0.999;0.915	T	0.82222	-0.0564	10	0.54805	T	0.06	-6.5897	7.1419	0.25560	0.1337:0.0:0.6221:0.2442	.	636;317;841	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	M	841;317;636	ENSP00000256079:L841M;ENSP00000444520:L636M	ENSP00000256079:L841M	L	-	1	2	IPO8	30681357	1.000000	0.71417	0.983000	0.44433	0.856000	0.48823	3.275000	0.51639	0.295000	0.22570	0.650000	0.86243	CTG		0.388	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		T	30790090	G	T	30790090	3	4	496	1	0	0	0	0	1	0	0	0	7800	1020	36	4	608	4	IPO8	12	30790090	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	9168468	30790090	103061805	51	26833											
GXYLT1	283464	hgsc.bcm.edu	37	12	42512967	42512967	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr12:42512967A>T	ENST00000398675.3	-	3	553	c.321T>A	c.(319-321)agT>agA	p.S107R	GXYLT1_ENST00000280876.6_Missense_Mutation_p.S76R	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	107					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTATTTTCAGACTGTACCTAA	0.363																																																0													84	77	79					12																	42512967		1887	4120	6007	SO:0001583	missense	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.321T>A	12.37:g.42512967A>T	ENSP00000381666:p.Ser107Arg		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	A	3.804	-0.041095	0.07452	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	.	.	.	5.73	-0.0214	0.13951	.	13.484300	0.00166	N	0.000000	T	0.17238	0.0414	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16217	-1.0410	9	0.16420	T	0.52	0.0014	6.6682	0.23054	0.6919:0.0:0.1958:0.1123	.	76;107	Q4G148-2;Q4G148	.;GXLT1_HUMAN	R	107;76	.	ENSP00000280876:S76R	S	-	3	2	GXYLT1	40799234	0.001000	0.12720	0.003000	0.11579	0.400000	0.30750	0.574000	0.23714	0.117000	0.18138	0.482000	0.46254	AGT		0.363	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		T	42512967	A	T	42512967	3	4	496	1	0	0	0	0	1	0	0	0	6905	272	10	5	1025	5	GXYLT1	12	42512967	Missense_Mutation	SNP	A	TCGA-CJ-4644-01A-02D-1386-10	11722877	42512967	91338928	52	26834											
FRY	10129	broad.mit.edu;hgsc.bcm.edu	37	13	32776165	32776165	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr13:32776165G>T	ENST00000380250.3	+	30	4330	c.3834G>T	c.(3832-3834)atG>atT	p.M1278I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1278						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.M1278I(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAATCTCCATGCAGCTCATGC	0.373																																																1	Substitution - Missense(1)	kidney(1)											132	117	122					13																	32776165		1896	4121	6017	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3834G>T	13.37:g.32776165G>T	ENSP00000369600:p.Met1278Ile		Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040668	0.75732	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.63096	-0.02	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	L	0.55481	1.735	0.80722	D	1	B	0.06786	0.001	B	0.16722	0.016	T	0.55016	-0.8206	10	0.36615	T	0.2	.	19.9928	0.97374	0.0:0.0:1.0:0.0	.	1278	Q5TBA9	FRY_HUMAN	I	1278;117	ENSP00000369600:M1278I	ENSP00000369600:M1278I	M	+	3	0	FRY	31674165	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.880000	0.87243	2.745000	0.94114	0.650000	0.86243	ATG		0.373	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		T	32776165	G	T	32776165	3	4	496	1	0	0	0	0	1	0	0	0	6065	1319	46	4	3952	4	FRY	13	32776165	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10		32776165	82393713	53	26835											
COG3	83548	broad.mit.edu;hgsc.bcm.edu	37	13	46054427	46054427	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr13:46054427T>C	ENST00000349995.5	+	4	661		c.e4+2			NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3						ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.?(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		AAAGAACAGGTAATTTGGAGT	0.333																																					Ovarian(150;1048 1859 18083 21577 42700)											1	Unknown(1)	kidney(1)											72	70	70					13																	46054427		2203	4300	6503	SO:0001630	splice_region_variant	83548			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.549+2T>C	13.37:g.46054427T>C			B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Splice_Site	SNP	ENST00000349995.5	37	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639911	0.67244	.	.	ENSG00000136152	ENST00000349995	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2574	0.73596	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	COG3	44952428	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.651000	0.83577	2.200000	0.70718	0.482000	0.46254	.		0.333	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2		Intron	C	46054427	T	C	46054427	5	2	496	1	0	0	0	0	0	0	1	0	3661	1652	57	3	565	3	COG3	13	46054427	Splice_Site	SNP	T	TCGA-CJ-4644-01A-02D-1386-10	13278262	46054427	69115451	54	26836											
SLC7A8	23428	broad.mit.edu	37	14	23635685	23635685	+	Silent	SNP	C	C	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr14:23635685C>A	ENST00000316902.7	-	2	941	c.216G>T	c.(214-216)gtG>gtT	p.V72V	SLC7A8_ENST00000469263.1_Silent_p.V72V	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	72					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.V72V(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GAGCAAGGCCCACAGAACCAG	0.557																																																1	Substitution - coding silent(1)	kidney(1)											222	220	221					14																	23635685		2203	4300	6503	SO:0001819	synonymous_variant	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.216G>T	14.37:g.23635685C>A			B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000316902.7	37	CCDS9590.1																																																																																				0.557	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			A	23635685	C	A	23635685	2	1	496	1	0	0	0	0	0	0	0	1	14710	581	21	4		4	SLC7A8	14	23635685	Silent	SNP	C	TCGA-CJ-4644-01A-02D-1386-10		23635685	83713855	55	26837											
SYNE2	23224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64408465	64408465	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr14:64408465delA	ENST00000344113.4	+	4	406	c.194delA	c.(193-195)catfs	p.H65fs	SYNE2_ENST00000341472.5_Frame_Shift_Del_p.H65fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.H65fs|SYNE2_ENST00000356081.3_Frame_Shift_Del_p.H65fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.H65fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	65	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAAAGGGGCATGTCCTCCTG	0.368																																																0													134	123	126					14																	64408465		1855	4111	5966	SO:0001589	frameshift_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.194delA	14.37:g.64408465delA	ENSP00000341781:p.His65fs		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	ENST00000344113.4	37	CCDS41963.1																																																																																				0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		-	64408465	A	-	64408465	7	5	496	1	0	1	0	1	0	0	0	0	15451	217	8	0	204	0	SYNE2	14	64408465	Frame_Shift_Del	DEL	A	TCGA-CJ-4644-01A-02D-1386-10	40772780	64408465	42941075	56	26838											
ATG2B	55102	broad.mit.edu;hgsc.bcm.edu	37	14	96789012	96789012	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr14:96789012T>G	ENST00000359933.4	-	17	3494	c.2601A>C	c.(2599-2601)gaA>gaC	p.E867D	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	867					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.E867D(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCTCTTCTTCTTCAGCTGCAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											120	114	116					14																	96789012		1908	4120	6028	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2601A>C	14.37:g.96789012T>G	ENSP00000353010:p.Glu867Asp		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	16.37	3.103843	0.56291	.	.	ENSG00000066739	ENST00000359933	T	0.11385	2.78	5.67	1.67	0.24075	.	0.000000	0.64402	U	0.000001	T	0.19805	0.0476	L	0.49350	1.555	0.46542	D	0.999095	D	0.69078	0.997	D	0.72625	0.978	T	0.01643	-1.1305	10	0.39692	T	0.17	.	5.725	0.18008	0.0:0.5895:0.1305:0.2799	.	867	Q96BY7	ATG2B_HUMAN	D	867	ENSP00000353010:E867D	ENSP00000353010:E867D	E	-	3	2	ATG2B	95858765	0.361000	0.24972	0.993000	0.49108	0.991000	0.79684	-0.340000	0.07821	0.330000	0.23485	-0.177000	0.13119	GAA		0.408	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		G	96789012	T	G	96789012	3	3	496	1	0	0	0	0	1	0	0	0	1094	1606	56	5	3739	5	ATG2B	14	96789012	Missense_Mutation	SNP	T	TCGA-CJ-4644-01A-02D-1386-10	32380547	96789012	10560528	57	26839											
AHNAK2	113146	hgsc.bcm.edu	37	14	105416367	105416367	+	Silent	SNP	A	A	C	rs34605366	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr14:105416367A>C	ENST00000333244.5	-	7	5540	c.5421T>G	c.(5419-5421)ggT>ggG	p.G1807G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1807						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACAGGTCACCCTCCAGCC	0.622													.|||	45	0.00898562	0.0219	0.0058	5008	,	,		16537	0.002		0.006	False		,,,				2504	0.0041															0													139	169	159					14																	105416367		2000	4143	6143	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5421T>G	14.37:g.105416367A>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		C	105416367	A	C	105416367	2	2	496	1	0	0	0	0	0	0	0	1	415	146	6	5		5	AHNAK2	14	105416367	Silent	SNP	A	TCGA-CJ-4644-01A-02D-1386-10	8627355	105416367	1933173	58	26840											
AHNAK2	113146	hgsc.bcm.edu	37	14	105416838	105416839	+	Missense_Mutation	DNP	CG	CG	AT	rs145693791|rs180896416	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr14:105416838_105416839CG>AT	ENST00000333244.5	-	7	5068_5069	c.4949_4950CG>AT	c.(4948-4950)gCG>gAT	p.A1650D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1650						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGCAGTCACCGCCTTGTCGGC	0.594																																																0																																										SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4949_4950delinsAT	14.37:g.105416838_105416839delinsAT	ENSP00000353114:p.Ala1650Asp		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent|Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.594	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		AT	105416839	CG	AT	105416838	3	1	496	1	0	0	0	0	1	0	0	0	415	639	23	4	12441	4	AHNAK2	14	105416838	Missense_Mutation	DNP	CG	TCGA-CJ-4644-01A-02D-1386-10	471	105416838	1932702	59	26841											
JMJD7	100137047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42128715	42128715	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr15:42128715C>T	ENST00000397299.4	+	6	708	c.668C>T	c.(667-669)aCc>aTc	p.T223I	JMJD7-PLA2G4B_ENST00000476036.1_3'UTR|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.T223I|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.T223I|PLA2G4B_ENST00000458483.1_5'Flank|JMJD7_ENST00000408047.1_Missense_Mutation_p.T124I|PLA2G4B_ENST00000452633.1_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.T223I	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	223	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.							p.T223I(3)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						GAAGAGGGCACCTTTAAGGTG	0.567																																																3	Substitution - Missense(3)	kidney(3)											68	61	63					15																	42128715		2201	4298	6499	SO:0001583	missense	100137047				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.668C>T	15.37:g.42128715C>T	ENSP00000380467:p.Thr223Ile		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000397299.4	37	CCDS45240.1	.	.	.	.	.	.	.	.	.	.	.	15.14	2.743567	0.49151	.	.	ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000408047;ENST00000431823;ENST00000405106;ENST00000542534;ENST00000335032;ENST00000382448;ENST00000342159	T;T;T;T;T	0.44881	1.45;0.91;1.45;1.93;1.93	5.15	5.15	0.70609	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.246709	0.28834	N	0.013994	T	0.29458	0.0734	N	0.22421	0.69	0.25732	N	0.985254	B;B;B	0.30146	0.27;0.217;0.026	B;B;B	0.29716	0.106;0.047;0.026	T	0.20405	-1.0276	10	0.41790	T	0.15	-6.0391	11.6156	0.51088	0.1775:0.8225:0.0:0.0	.	223;223;223	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	I	223;124;124;124;223;143;223;223	ENSP00000380467:T223I;ENSP00000384174:T124I;ENSP00000441905:T223I;ENSP00000371886:T223I;ENSP00000342785:T223I	ENSP00000380467:T223I	T	+	2	0	JMJD7-PLA2G4B;JMJD7	39916007	0.004000	0.15560	1.000000	0.80357	0.968000	0.65278	0.827000	0.27421	2.562000	0.86427	0.561000	0.74099	ACC		0.567	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326082.1	NM_001114632		T	42128715	C	T	42128715	3	4	496	1	0	0	0	0	1	0	0	0	7956	507	18	2	690	2	JMJD7	15	42128715	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10		42128715	60402677	60	26842											
OR4F15	390649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	102358604	102358604	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr15:102358604C>T	ENST00000332238.4	+	1	239	c.215C>T	c.(214-216)gCa>gTa	p.A72V		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A72V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATTGATATGGCATTTTGCTCA	0.418																																																1	Substitution - Missense(1)	kidney(1)											229	199	209					15																	102358604		2203	4300	6503	SO:0001583	missense	390649			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"GPCR / Class A : Olfactory receptors"	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.215C>T	15.37:g.102358604C>T	ENSP00000333184:p.Ala72Val		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	8.778	0.927549	0.18056	.	.	ENSG00000182854	ENST00000332238	T	0.00433	7.43	5.57	-8.28	0.01013	GPCR, rhodopsin-like superfamily (1);	2.326850	0.01624	N	0.023141	T	0.00178	0.0005	N	0.03930	-0.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46925	-0.9156	9	.	.	.	.	10.9571	0.47364	0.0:0.3049:0.5381:0.1569	.	72	Q8NGB8	O4F15_HUMAN	V	72	ENSP00000333184:A72V	.	A	+	2	0	OR4F15	100176127	0.000000	0.05858	0.000000	0.03702	0.982000	0.71751	-0.245000	0.08890	-1.152000	0.02832	-0.312000	0.09012	GCA		0.418	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		T	102358604	C	T	102358604	3	4	496	1	0	0	0	0	1	0	0	0	11063	710	25	2	217	2	OR4F15	15	102358604	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	60229889	102358604	172788	61	26843											
MMP25	64386	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3100414	3100414	+	Silent	SNP	C	C	T	rs371570478		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr16:3100414C>T	ENST00000336577.4	+	4	765	c.528C>T	c.(526-528)cgC>cgT	p.R176R	RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	187					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R176R(1)|p.R100R(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	ACTTTGCCCGCGCCTTCCACC	0.637																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)											2	Substitution - coding silent(2)	kidney(2)						C		1,4393	2.1+/-5.4	0,1,2196	50	47	48		528	1.9	1	16		48	0,8600		0,0,4300	no	coding-synonymous	MMP25	NM_022468.4		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		176/563	3100414	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	64386			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.528C>T	16.37:g.3100414C>T			Q96F04|Q96TE2	Silent	SNP	ENST00000336577.4	37	CCDS10492.1																																																																																				0.637	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		T	3100414	C	T	3100414	2	4	496	1	0	0	0	0	0	0	0	1	9664	755	27	1		1	MMP25	16	3100414	Silent	SNP	C	TCGA-CJ-4644-01A-02D-1386-10		3100414	87254339	62	26844											
ATP2A1	487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28913241	28913241	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr16:28913241A>T	ENST00000357084.3	+	16	2425	c.2158A>T	c.(2158-2160)Atg>Ttg	p.M720L	ATP2A1_ENST00000395503.4_Missense_Mutation_p.M720L|ATP2A1_ENST00000536376.1_Missense_Mutation_p.M595L	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	720					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.M720L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGGCATTGCCATGGGATCTGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											91	71	78					16																	28913241		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2158A>T	16.37:g.28913241A>T	ENSP00000349595:p.Met720Leu		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.833635	0.91036	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.97505	-4.41;-4.41;-4.41	5.27	5.27	0.74061	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	M	0.89715	3.055	0.58432	D	0.999999	P;P;P	0.50943	0.603;0.9;0.94	P;P;P	0.56163	0.537;0.626;0.793	D	0.99078	1.0836	10	0.87932	D	0	.	14.1529	0.65398	1.0:0.0:0.0:0.0	.	595;720;720	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	L	720;720;757;595	ENSP00000349595:M720L;ENSP00000378879:M720L;ENSP00000443101:M595L	ENSP00000349595:M720L	M	+	1	0	ATP2A1	28820742	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.238000	0.95380	1.990000	0.58119	0.459000	0.35465	ATG		0.597	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		T	28913241	A	T	28913241	3	4	496	1	0	0	0	0	1	0	0	0	1136	217	8	5	2220	5	ATP2A1	16	28913241	Missense_Mutation	SNP	A	TCGA-CJ-4644-01A-02D-1386-10	25812827	28913241	61441512	63	26845											
COG4	25839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	70548368	70548368	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr16:70548368G>C	ENST00000323786.5	-	4	435	c.414C>G	c.(412-414)gaC>gaG	p.D138E	COG4_ENST00000393612.4_Missense_Mutation_p.D134E|COG4_ENST00000564653.1_Missense_Mutation_p.D138E	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	134	Interacts with STX5.				Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.D138E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGAACTTCAGGTCCAAGATGT	0.463																																																1	Substitution - Missense(1)	kidney(1)											115	98	104					16																	70548368		2198	4300	6498	SO:0001583	missense	25839			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.414C>G	16.37:g.70548368G>C	ENSP00000315775:p.Asp138Glu		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836223	0.71373	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	T;T;T	0.41065	1.01;1.01;1.01	5.51	4.56	0.56223	.	0.042720	0.85682	D	0.000000	T	0.51719	0.1691	L	0.49640	1.575	0.58432	D	0.999992	D;D	0.63880	0.984;0.993	P;P	0.59171	0.732;0.853	T	0.54309	-0.8313	10	0.87932	D	0	-20.9151	10.5288	0.44965	0.1477:0.0:0.8523:0.0	.	133;134	Q6PIW8;Q9H9E3	.;COG4_HUMAN	E	138;134;134;61	ENSP00000315775:D138E;ENSP00000377236:D134E;ENSP00000461912:D61E	ENSP00000315775:D138E	D	-	3	2	COG4	69105869	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.453000	0.44970	1.331000	0.45412	-0.258000	0.10820	GAC		0.463	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			C	70548368	G	C	70548368	3	2	496	1	0	0	0	0	1	0	0	0	3662	1252	44	4	2019	4	COG4	16	70548368	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	41635127	70548368	19806385	64	26846											
SLC7A5	8140	hgsc.bcm.edu	37	16	87885388	87885388	+	Silent	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr16:87885388G>A	ENST00000261622.4	-	2	671	c.606C>T	c.(604-606)gcC>gcT	p.A202A	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	202					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GGAGCTTGGCGGCGGCAAAGG	0.682																																																0													38	36	37					16																	87885388		2197	4300	6497	SO:0001819	synonymous_variant	8140			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.606C>T	16.37:g.87885388G>A			Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	ENST00000261622.4	37	CCDS10964.1																																																																																				0.682	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		A	87885388	G	A	87885388	2	1	496	1	0	0	0	0	0	0	0	1	14706	1103	39	1		1	SLC7A5	16	87885388	Silent	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	17337020	87885388	2469365	65	26847											
KRTAP4-8	728224	hgsc.bcm.edu	37	17	39254247	39254247	+	Nonsense_Mutation	SNP	A	A	T	rs137943557	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr17:39254247A>T	ENST00000333822.4	-	1	146	c.90T>A	c.(88-90)tgT>tgA	p.C30*		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	30	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGGTGGTCTGACAGCAGCTGG	0.632													A|||	80	0.0159744	0.0008	0.0202	5008	,	,		16884	0.0		0.0447	False		,,,				2504	0.0204															0								A	stop/CYS	11,1373		0,11,681	23	25	25		90	-1.6	0.2	17	dbSNP_134	25	141,3041		4,133,1454	no	stop-gained	KRTAP4-8	NM_031960.2		4,144,2135	TT,TA,AA		4.4312,0.7948,3.329		30/186	39254247	152,4414	692	1591	2283	SO:0001587	stop_gained	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.90T>A	17.37:g.39254247A>T	ENSP00000328444:p.Cys30*		A8MSH3	Nonsense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	40	0.018315018315018316	0	0.0	6	0.016574585635359115	0	0.0	34	0.044854881266490766	.	12.05	1.821859	0.32237	0.007948	0.044312	ENSG00000204880	ENST00000333822;ENST00000332991	.	.	.	3.56	-1.56	0.08532	.	0.122142	0.37348	U	0.002137	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7326	0.18049	0.3:0.1451:0.5549:0.0	.	.	.	.	X	30	.	ENSP00000414561:C30X	C	-	3	2	KRTAP4-8	36507773	0.004000	0.15560	0.165000	0.22776	0.234000	0.25298	-0.095000	0.11077	-0.555000	0.06142	-1.744000	0.00683	TGT		0.632	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		T	39254247	A	T	39254247	4	4	496	1	0	0	0	0	0	1	0	0	8558	273	10	5	471	5	KRTAP4-8	17	39254247	Nonsense_Mutation	SNP	A	TCGA-CJ-4644-01A-02D-1386-10		39254247	41940963	66	26848											
FMNL1	752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	43323619	43323619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr17:43323619G>T	ENST00000331495.3	+	25	3469	c.3133G>T	c.(3133-3135)Gag>Tag	p.E1045*	MAP3K14-AS1_ENST00000588504.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|FMNL1_ENST00000587489.1_Nonsense_Mutation_p.E623*|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Nonsense_Mutation_p.E1045*|MAP3K14-AS1_ENST00000591263.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1045					actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.E1045*(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCTCATCTCTGAGCTGAAACG	0.567																																					GBM(164;1247 1997 8702 11086 51972)											1	Substitution - Nonsense(1)	kidney(1)											82	83	83					17																	43323619		2203	4300	6503	SO:0001587	stop_gained	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.3133G>T	17.37:g.43323619G>T	ENSP00000329219:p.Glu1045*		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Nonsense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	42	9.597206	0.99216	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	16.0407	0.80680	0.0:0.0:1.0:0.0	.	.	.	.	X	1045	.	ENSP00000327442:E1045X	E	+	1	0	FMNL1	40679402	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.753000	0.85153	2.419000	0.82065	0.561000	0.74099	GAG		0.567	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		T	43323619	G	T	43323619	4	4	496	1	0	0	0	0	0	1	0	0	5953	1291	45	4	3231	4	FMNL1	17	43323619	Nonsense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	4069372	43323619	37871591	67	26849											
NEDD4L	23327	broad.mit.edu;hgsc.bcm.edu	37	18	56033230	56033230	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr18:56033230G>A	ENST00000400345.3	+	21	2116		c.e21-1		NEDD4L_ENST00000435432.2_Splice_Site|NEDD4L_ENST00000456986.1_Splice_Site|NEDD4L_ENST00000256832.7_Splice_Site|NEDD4L_ENST00000356462.6_Splice_Site|NEDD4L_ENST00000456173.2_Splice_Site|NEDD4L_ENST00000586263.1_Splice_Site|NEDD4L_ENST00000357895.5_Splice_Site|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_Splice_Site|NEDD4L_ENST00000431212.2_Splice_Site|NEDD4L_ENST00000382850.4_Splice_Site	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase						cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTTTTGTGTAGGCTGATATCC	0.338																																																2	Unknown(2)	kidney(2)											73	65	68					18																	56033230		1826	4085	5911	SO:0001630	splice_region_variant	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1834-1G>A	18.37:g.56033230G>A			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Splice_Site	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215791	0.79352	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8487	0.96730	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEDD4L	54184210	1.000000	0.71417	0.988000	0.46212	0.790000	0.44656	9.813000	0.99286	2.748000	0.94277	0.650000	0.86243	.		0.338	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		Intron	A	56033230	G	A	56033230	5	1	496	1	0	0	0	0	0	0	1	0	10313	1014	35	2	1943	2	NEDD4L	18	56033230	Splice_Site	SNP	G	TCGA-CJ-4644-01A-02D-1386-10		56033230	22044018	68	26850											
PLIN4	729359	hgsc.bcm.edu;ucsc.edu	37	19	4511491	4511491	+	Silent	SNP	A	A	G	rs10423324	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:4511491A>G	ENST00000301286.3	-	3	2438	c.2439T>C	c.(2437-2439)ggT>ggC	p.G813G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	813	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGTCCTTGGTACCGGTCAGCA	0.597																																																0													95	123	114					19																	4511491		2057	4201	6258	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2439T>C	19.37:g.4511491A>G			A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.597	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		G	4511491	A	G	4511491	2	3	496	1	0	0	0	0	0	0	0	1	12094	378	14	3		3	PLIN4	19	4511491	Silent	SNP	A	TCGA-CJ-4644-01A-02D-1386-10		4511491	54617492	69	26851											
PLIN4	729359	hgsc.bcm.edu	37	19	4512945	4512946	+	Missense_Mutation	DNP	CA	CA	TG	rs79662071|rs75031432	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:4512945_4512946CA>TG	ENST00000301286.3	-	3	983_984	c.984_985TG>CA	c.(982-987)acTGgt>acCAgt	p.G329S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	329	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TTCATGGCACCAGTCACCCCAC	0.569																																																0																																										SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.984_985delinsTG	19.37:g.4512945_4512946delinsTG	ENSP00000301286:p.Gly329Ser		A6NEI2	Missense_Mutation|Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.569	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		TG	4512946	CA	TG	4512945	3	4	496	1	0	0	0	0	1	0	0	0	12094	594	21	2	3104	2	PLIN4	19	4512945	Missense_Mutation	DNP	CA	TCGA-CJ-4644-01A-02D-1386-10	1454	4512945	54616038	70	26852											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9089241	9089241	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:9089241A>C	ENST00000397910.4	-	1	2777	c.2574T>G	c.(2572-2574)caT>caG	p.H858Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	858	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.H858Q(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTAAATAGATGAGTGGAAG	0.468																																																2	Substitution - Missense(2)	kidney(2)											89	87	87					19																	9089241		1925	4124	6049	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2574T>G	19.37:g.9089241A>C	ENSP00000381008:p.His858Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.164	-0.391469	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.45	0.396	0.16309	.	.	.	.	.	T	0.01940	0.0061	N	0.19112	0.55	.	.	.	P	0.50710	0.938	B	0.40506	0.331	T	0.45745	-0.9240	8	0.87932	D	0	.	3.2167	0.06701	0.7462:0.0:0.2538:0.0	.	858	B5ME49	.	Q	858	ENSP00000381008:H858Q	ENSP00000381008:H858Q	H	-	3	2	MUC16	8950241	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.413000	0.07123	0.059000	0.16252	0.172000	0.16884	CAT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9089241	A	C	9089241	3	2	496	1	0	0	0	0	1	0	0	0	9975	330	12	5	41285	5	MUC16	19	9089241	Missense_Mutation	SNP	A	TCGA-CJ-4644-01A-02D-1386-10	4576296	9089241	50039742	71	26853											
LPHN1	22859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14268697	14268697	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:14268697C>G	ENST00000340736.6	-	14	2844	c.2547G>C	c.(2545-2547)gaG>gaC	p.E849D	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.E844D	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	849	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.E849D(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCTTACGATCTCACGGTGAG	0.622																																																1	Substitution - Missense(1)	kidney(1)											107	81	90					19																	14268697		2203	4300	6503	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2547G>C	19.37:g.14268697C>G	ENSP00000340688:p.Glu849Asp		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301275	0.23650	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.70282	-0.47;-0.47	4.87	2.74	0.32292	GPS domain (2);	0.060681	0.64402	D	0.000005	T	0.50922	0.1644	N	0.19112	0.55	0.33275	D	0.561574	B;B	0.14012	0.008;0.009	B;B	0.19666	0.026;0.008	T	0.51896	-0.8647	10	0.46703	T	0.11	.	5.3822	0.16197	0.0:0.649:0.166:0.1849	.	844;849	O94910-2;O94910	.;LPHN1_HUMAN	D	849;844	ENSP00000340688:E849D;ENSP00000355328:E844D	ENSP00000340688:E849D	E	-	3	2	LPHN1	14129697	0.997000	0.39634	1.000000	0.80357	0.740000	0.42216	0.467000	0.22035	0.580000	0.29522	0.491000	0.48974	GAG		0.622	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		G	14268697	C	G	14268697	3	3	496	1	0	0	0	0	1	0	0	0	8917	912	32	4	1921	4	LPHN1	19	14268697	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	5179456	14268697	44860286	72	26854											
SBSN	374897	hgsc.bcm.edu	37	19	36018434	36018434	+	Silent	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:36018434C>T	ENST00000452271.2	-	1	778	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	250	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGGCCTGCCCCGCAGCATGGT	0.627																																																0													31	37	35					19																	36018434		692	1591	2283	SO:0001819	synonymous_variant	374897			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.750G>A	19.37:g.36018434C>T			A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	CCDS54253.1																																																																																				0.627	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		T	36018434	C	T	36018434	2	4	496	1	0	0	0	0	0	0	0	1	13870	639	23	1		1	SBSN	19	36018434	Silent	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	21749737	36018434	23110549	73	26855											
FCGBP	8857	broad.mit.edu	37	19	40363154	40363154	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:40363154C>A	ENST00000221347.6	-	32	14923	c.14916G>T	c.(14914-14916)atG>atT	p.M4972I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4972	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.M4972I(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGGGATGGACATGAGGAGGT	0.627																																																1	Substitution - Missense(1)	kidney(1)											41	45	44					19																	40363154		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14916G>T	19.37:g.40363154C>A	ENSP00000221347:p.Met4972Ile		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	0.583	-0.836196	0.02692	.	.	ENSG00000090920	ENST00000221347	T	0.55930	0.49	4.9	-9.8	0.00490	von Willebrand factor, type D domain (3);	0.321942	0.25810	N	0.028150	T	0.12774	0.0310	N	0.00583	-1.355	0.09310	N	1	B	0.20052	0.041	B	0.24701	0.055	T	0.28870	-1.0030	10	0.10902	T	0.67	.	10.1087	0.42550	0.0:0.1258:0.4717:0.4025	.	4972	Q9Y6R7	FCGBP_HUMAN	I	4972	ENSP00000221347:M4972I	ENSP00000221347:M4972I	M	-	3	0	FCGBP	45054994	0.000000	0.05858	0.357000	0.25798	0.079000	0.17450	-3.662000	0.00400	-2.867000	0.00324	-0.698000	0.03680	ATG		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		A	40363154	C	A	40363154	3	1	496	1	0	0	0	0	1	0	0	0	5780	478	17	4	1321	4	FCGBP	19	40363154	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10	4344720	40363154	18765829	74	26856											
GNAS	2778	hgsc.bcm.edu	37	20	57428889	57428889	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr20:57428889G>A	ENST00000371100.4	+	1	1121	c.569G>A	c.(568-570)gGt>gAt	p.G190D	GNAS_ENST00000313949.7_Intron|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Intron|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371099.2_Missense_Mutation_p.G190D|GNAS_ENST00000306120.3_Missense_Mutation_p.V127M|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.G190D|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGAGGCCCAGGTGCTGCAGGG	0.632			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													14	16	15					20																	57428889		1896	4113	6009	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.569G>A	20.37:g.57428889G>A	ENSP00000360141:p.Gly190Asp		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.32|11.32	1.603202|1.603202	0.28534|0.28534	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.88354|.	-2.37;-2.37|.	4.26|4.26	-0.166|-0.166	0.13351|0.13351	.|.	17.538300|.	0.00903|.	N|.	0.002360|.	T|T	0.37999|0.37999	0.1024|0.1024	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999996|0.999996	D|.	0.64830|.	0.994|.	D|.	0.65010|.	0.931|.	T|T	0.35101|0.35101	-0.9802|-0.9802	10|6	0.17832|0.46703	T|T	0.49|0.11	.|.	4.7953|4.7953	0.13269|0.13269	0.1982:0.3409:0.4609:0.0|0.1982:0.3409:0.4609:0.0	.|.	190|.	Q5JWF2|.	GNAS1_HUMAN|.	D|M	190|127	ENSP00000360141:G190D;ENSP00000360143:G190D|.	ENSP00000360140:G190D|ENSP00000302237:V127M	G|V	+|+	2|1	0|0	GNAS|GNAS	56862284|56862284	0.465000|0.465000	0.25815|0.25815	0.007000|0.007000	0.13788|0.13788	0.866000|0.866000	0.49608|0.49608	0.542000|0.542000	0.23222|0.23222	0.023000|0.023000	0.15187|0.15187	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.632	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		A	57428889	G	A	57428889	3	1	496	1	0	0	0	0	1	0	0	0	6512	1261	44	2	1313	2	GNAS	20	57428889	Missense_Mutation	SNP	G	TCGA-CJ-4644-01A-02D-1386-10		57428889	5596631	75	26857											
ADRM1	11047	hgsc.bcm.edu;ucsc.edu	37	20	60883769	60883770	+	In_Frame_Ins	INS	-	-	GACACGAAG	rs140380365|rs202079747	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr20:60883769_60883770insGACACGAAG	ENST00000253003.2	+	10	1222_1223	c.1176_1177insGACACGAAG	c.(1177-1179)gac>GACACGAAGgac	p.393_393D>DTKD	LAMA5_ENST00000492698.1_Intron|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	393	Interaction with UCHL5.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGAAAGAGGGCGACACGAAGGA	0.574														37	0.00738818	0.0	0.013	5008	,	,		23489	0.0		0.0258	False		,,,				2504	0.002															0																																										SO:0001652	inframe_insertion	11047			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.1177_1185dupGACACGAAG	20.37:g.60883770_60883778dupGACACGAAG	Exception_encountered		A0PKB1|Q96FJ7|Q9H1P2	In_Frame_Ins	INS	ENST00000253003.2	37	CCDS13496.1																																																																																				0.574	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			GACACGAAG	60883770	-	GACACGAAG	60883769	7	5	496	1	0	1	1	0	0	0	0	0	345	755	27	0	1210	0	ADRM1	20	60883769	In_Frame_Ins	INS	-	TCGA-CJ-4644-01A-02D-1386-10	3454880	60883769	2141751	76	26858											
VCX2	51480	hgsc.bcm.edu	37	X	8138170	8138170	+	Missense_Mutation	SNP	C	C	G	rs75657421		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chrX:8138170C>G	ENST00000317103.4	-	3	629	c.323G>C	c.(322-324)aGc>aCc	p.S108T		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	108	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.			S -> A (in Ref. 1; AAG41765, 2; AAF28172 and 4; AAH98113/AAH96715/AAH98163). {ECO:0000305}.						endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TTCCACCTCGCTCTCCTGACT	0.642													G|||	3056	0.809536	0.5908	0.6427	3775	,	,		3228	0.7192		0.5775	False		,,,				2504	0.5348															0													35	44	41					X																	8138170		1777	3690	5467	SO:0001583	missense	51480			AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.323G>C	X.37:g.8138170C>G	ENSP00000321309:p.Ser108Thr		A3KPB6|Q4V9T2|Q9P0H5	Missense_Mutation	SNP	ENST00000317103.4	37	CCDS35200.1	1050	0.6329113924050633	144	0.38095238095238093	131	0.5646551724137931	216	0.6352941176470588	227	0.40827338129496404	G	0.003	-2.558529	0.00136	.	.	ENSG00000177504	ENST00000317103	T	0.14022	2.54	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41466	-0.9507	7	0.02654	T	1	.	.	.	.	.	108	Q9H322	VCX2_HUMAN	T	108	ENSP00000321309:S108T	ENSP00000321309:S108T	S	-	2	0	VCX2	8098170	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.361000	0.07612	-1.450000	0.01936	-1.461000	0.01025	AGC		0.642	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378		G	8138170	C	G	8138170	3	3	496	1	0	0	0	0	1	0	0	0	17148	797	28	4	100	4	VCX2	23	8138170	Missense_Mutation	SNP	C	TCGA-CJ-4644-01A-02D-1386-10		8138170	147132390	77	26859											
TCEAL3	85012	hgsc.bcm.edu	37	X	102864334	102864334	+	Silent	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chrX:102864334G>A	ENST00000372628.1	+	3	700	c.342G>A	c.(340-342)acG>acA	p.T114T	TCEAL3_ENST00000372627.5_Silent_p.T114T|TCEAL3_ENST00000243286.3_Silent_p.T114T|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAAGAAAAACGGACAGGGGGA	0.572													G|||	16	0.00423841	0.003	0.0043	3775	,	,		12865	0.001		0.004	False		,,,				2504	0.0041															0													133	121	125					X																	102864334		2203	4300	6503	SO:0001819	synonymous_variant	85012			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.342G>A	X.37:g.102864334G>A			D3DXA4	Silent	SNP	ENST00000372628.1	37	CCDS14511.1																																																																																				0.572	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		A	102864334	G	A	102864334	2	1	496	1	0	0	0	0	0	0	0	1	15677	1103	39	1		1	TCEAL3	23	102864334	Silent	SNP	G	TCGA-CJ-4644-01A-02D-1386-10	94726164	102864334	52406226	78	26860											
ALG13	79868	hgsc.bcm.edu	37	X	110987996	110987996	+	Silent	SNP	A	A	T	rs56717389		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chrX:110987996A>T	ENST00000394780.3	+	24	2808	c.2796A>T	c.(2794-2796)ccA>ccT	p.P932P	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	932	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.P932P(7)		endometrium(2)|lung(10)|skin(1)	13						caccaccaccacctcctcctc	0.567																																																7	Substitution - coding silent(7)	endometrium(7)											10	8	8					X																	110987996		1493	3408	4901	SO:0001819	synonymous_variant	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2796A>T	X.37:g.110987996A>T			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	CCDS55477.1																																																																																				0.567	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		T	110987996	A	T	110987996	2	4	496	1	0	0	0	0	0	0	0	1	515	146	6	5		5	ALG13	23	110987996	Silent	SNP	A	TCGA-CJ-4644-01A-02D-1386-10	8123662	110987996	44282564	79	26861											
CXorf40B	541578	hgsc.bcm.edu	37	X	149102006	149102006	+	Silent	SNP	A	A	G	rs626113		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chrX:149102006A>G	ENST00000370406.3	-	4	915	c.87T>C	c.(85-87)ccT>ccC	p.P29P	CXorf40B_ENST00000355203.2_Silent_p.P29P|CXorf40B_ENST00000462691.1_Silent_p.P29P|CXorf40B_ENST00000370404.1_Silent_p.P29P			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	29										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCAGCAGAGGACGCCAGC	0.592													G|||	131	0.034702	0.0446	0.0159	3775	,	,		14099	0.003		0.0308	False		,,,				2504	0.0276															0													73	66	68					X																	149102006		2130	4282	6412	SO:0001819	synonymous_variant	541578			BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.87T>C	X.37:g.149102006A>G				Silent	SNP	ENST00000370406.3	37	CCDS35426.1																																																																																				0.592	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		G	149102006	A	G	149102006	2	3	496	1	0	0	0	0	0	0	0	1	4111	291	11	3		3	CXorf40B	23	149102006	Silent	SNP	A	TCGA-CJ-4644-01A-02D-1386-10	38114010	149102006	6168554	80	26862											
TRIT1	54802	hgsc.bcm.edu;ucsc.edu	37	1	40323055	40323055	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr1:40323055A>C	ENST00000316891.5	-	2	223	c.209T>G	c.(208-210)gTt>gGt	p.V70G	TRIT1_ENST00000372818.1_Missense_Mutation_p.V70G|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.V70G|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000537440.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	70					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGGGCAGAAACCTTGTTGGT	0.428																																																0													95	86	89					1																	40323055		2203	4300	6503	SO:0001583	missense	54802			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.209T>G	1.37:g.40323055A>C	ENSP00000321810:p.Val70Gly		A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.037688	0.75617	.	.	ENSG00000043514	ENST00000046894;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000544981	T;T;T	0.46819	0.86;0.86;0.95	5.88	5.88	0.94601	.	0.050865	0.85682	N	0.000000	T	0.69663	0.3136	M	0.90814	3.15	0.80722	D	1	D	0.54964	0.969	P	0.59825	0.864	T	0.76361	-0.2987	10	0.87932	D	0	-18.6171	11.3505	0.49585	0.9299:0.0:0.0701:0.0	.	70	Q9H3H1	MOD5_HUMAN	G	70;70;70;14;70	ENSP00000321810:V70G;ENSP00000361905:V70G;ENSP00000442765:V70G	ENSP00000046894:V70G	V	-	2	0	TRIT1	40095642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.455000	0.80726	2.257000	0.74773	0.459000	0.35465	GTT		0.428	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		C	40323055	A	C	40323055	3	2	497	1	0	0	0	0	1	0	0	0	16565	43	2	5	1234	5	TRIT1	1	40323055	Missense_Mutation	SNP	A	TCGA-CJ-4868-01A-01D-1373-10		40323055	208927566	1	26863											
LASS2	29956	hgsc.bcm.edu;ucsc.edu	37	1	150938648	150938648	+	Silent	SNP	A	A	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr1:150938648A>G	ENST00000271688.6	-	11	1505	c.1119T>C	c.(1117-1119)aaT>aaC	p.N373N	CERS2_ENST00000368954.5_Silent_p.N373N|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Intron|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	373					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GATGGTTGTTATTGAGGATGG	0.562																																																0													136	129	131					1																	150938648		2203	4300	6503	SO:0001819	synonymous_variant	0			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.1119T>C	1.37:g.150938648A>G			D3DV06|Q5SZE5|Q9HD96|Q9NW79	Silent	SNP	ENST00000271688.6	37	CCDS973.1																																																																																				0.562	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		G	150938648	A	G	150938648	2	3	497	1	0	0	0	0	0	0	0	1	8641	446	16	3		3	LASS2	1	150938648	Silent	SNP	A	TCGA-CJ-4868-01A-01D-1373-10	110615593	150938648	98311973	2	26864											
TNR	7143	hgsc.bcm.edu	37	1	175355248	175355248	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr1:175355248G>T	ENST00000367674.2	-	8	2405	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	TNR_ENST00000263525.2_Missense_Mutation_p.P566H			Q92752	TENR_HUMAN	tenascin R	566	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCGGGAGCCAGGCCGCAGGGC	0.612																																																0													63	60	61					1																	175355248		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1697C>A	1.37:g.175355248G>T	ENSP00000356646:p.Pro566His		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820196	0.71028	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.69175	-0.38;-0.38	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84991	0.5595	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87170	0.2220	10	0.87932	D	0	.	19.1714	0.93580	0.0:0.0:1.0:0.0	.	566	Q92752	TENR_HUMAN	H	566	ENSP00000356646:P566H;ENSP00000263525:P566H	ENSP00000263525:P566H	P	-	2	0	TNR	173621871	1.000000	0.71417	0.953000	0.39169	0.256000	0.26092	8.911000	0.92721	2.613000	0.88420	0.650000	0.86243	CCT		0.612	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175355248	G	T	175355248	3	4	497	1	0	0	0	0	1	0	0	0	16343	1000	35	4	2443	4	TNR	1	175355248	Missense_Mutation	SNP	G	TCGA-CJ-4868-01A-01D-1373-10	24416600	175355248	73895373	3	26865											
STAMBP	10617	hgsc.bcm.edu	37	2	74074605	74074605	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr2:74074605A>T	ENST00000394070.2	+	5	970	c.467A>T	c.(466-468)cAa>cTa	p.Q156L	STAMBP_ENST00000394073.1_Missense_Mutation_p.Q156L|STAMBP_ENST00000409707.1_Missense_Mutation_p.Q156L|STAMBP_ENST00000536064.1_Missense_Mutation_p.Q156L|STAMBP_ENST00000339566.3_Missense_Mutation_p.Q156L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	156	Glu-rich.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						AAGCAGCAGCAATTGGAACAG	0.483																																																0													79	76	77					2																	74074605		2203	4300	6503	SO:0001583	missense	10617			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.467A>T	2.37:g.74074605A>T	ENSP00000377633:p.Gln156Leu		B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411978	0.83340	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.52526	1.82;1.82;1.78;1.82;1.82;0.66	4.88	4.88	0.63580	.	0.121273	0.56097	D	0.000022	T	0.59595	0.2205	M	0.71036	2.16	0.80722	D	1	P	0.48294	0.908	P	0.52957	0.714	T	0.63501	-0.6623	10	0.54805	T	0.06	-6.9798	13.913	0.63878	1.0:0.0:0.0:0.0	.	156	O95630	STABP_HUMAN	L	156	ENSP00000344742:Q156L;ENSP00000386548:Q156L;ENSP00000413874:Q156L;ENSP00000377636:Q156L;ENSP00000377633:Q156L;ENSP00000443502:Q156L	ENSP00000344742:Q156L	Q	+	2	0	STAMBP	73928113	1.000000	0.71417	0.300000	0.25030	0.973000	0.67179	8.463000	0.90377	2.189000	0.69895	0.528000	0.53228	CAA		0.483	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		T	74074605	A	T	74074605	3	4	497	1	0	0	0	0	1	0	0	0	15255	130	5	5	481	5	STAMBP	2	74074605	Missense_Mutation	SNP	A	TCGA-CJ-4868-01A-01D-1373-10		74074605	169124768	4	26866											
KIAA1310	55683	hgsc.bcm.edu	37	2	97278028	97278028	+	Silent	SNP	C	C	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr2:97278028C>T	ENST00000431828.1	-	9	1153	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	KANSL3_ENST00000440133.1_Silent_p.V153V|KANSL3_ENST00000599854.1_Silent_p.V272V|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Silent_p.V272V			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	359					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CATGACAGGCCACCAAAGCTC	0.443																																																0													96	91	93					2																	97278028		1906	4135	6041	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1077G>A	2.37:g.97278028C>T			A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	ENST00000431828.1	37	CCDS46361.1																																																																																				0.443	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		T	97278028	C	T	97278028	2	4	497	1	0	0	0	0	0	0	0	1	8224	581	21	2		2	KIAA1310	2	97278028	Silent	SNP	C	TCGA-CJ-4868-01A-01D-1373-10	23203423	97278028	145921345	5	26867											
TGFBRAP1	9392	hgsc.bcm.edu	37	2	105924721	105924721	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr2:105924721A>G	ENST00000393359.2	-	2	464	c.38T>C	c.(37-39)gTg>gCg	p.V13A	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V13A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	13					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCCCGCTCCACAGCAGAGAC	0.532																																					Esophageal Squamous(183;794 2019 9730 21801 48859)											0													37	37	37					2																	105924721		2203	4300	6503	SO:0001583	missense	9392			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.38T>C	2.37:g.105924721A>G	ENSP00000377027:p.Val13Ala		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870268	0.51588	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.45276	0.9;0.9	4.82	4.82	0.62117	.	0.285365	0.33670	N	0.004664	T	0.36276	0.0961	L	0.51422	1.61	0.44570	D	0.997533	B	0.21905	0.062	B	0.19148	0.024	T	0.30475	-0.9977	10	0.66056	D	0.02	-25.5826	9.3711	0.38254	0.92:0.0:0.08:0.0	.	13	Q8WUH2	TGFA1_HUMAN	A	13	ENSP00000377027:V13A;ENSP00000258449:V13A	ENSP00000258449:V13A	V	-	2	0	TGFBRAP1	105291153	0.986000	0.35501	0.625000	0.29200	0.978000	0.69477	6.197000	0.72100	2.145000	0.66743	0.533000	0.62120	GTG		0.532	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		G	105924721	A	G	105924721	3	3	497	1	0	0	0	0	1	0	0	0	15829	159	6	3	2588	3	TGFBRAP1	2	105924721	Missense_Mutation	SNP	A	TCGA-CJ-4868-01A-01D-1373-10	8646693	105924721	137274652	6	26868											
COL4A3	1285	hgsc.bcm.edu;ucsc.edu	37	2	228163409	228163409	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr2:228163409C>A	ENST00000396578.3	+	43	3925	c.3763C>A	c.(3763-3765)Ccc>Acc	p.P1255T	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1255	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGCGCCTGGTCCCCCTGGACC	0.488																																																0													64	66	65					2																	228163409		1865	4117	5982	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3763C>A	2.37:g.228163409C>A	ENSP00000379823:p.Pro1255Thr		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	7.129	0.579527	0.13686	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.96856	-4.15	5.28	4.41	0.53225	.	0.354597	0.24628	N	0.036904	D	0.93798	0.8017	L	0.55834	1.745	0.32029	N	0.59982	P;P;P;B	0.51351	0.944;0.728;0.557;0.267	P;B;B;B	0.47981	0.563;0.294;0.178;0.086	D	0.90781	0.4679	10	0.13853	T	0.58	.	5.4067	0.16326	0.1622:0.6704:0.0:0.1674	.	1255;1255;1255;1255	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	T	1255	ENSP00000379823:P1255T	ENSP00000323334:P1255T	P	+	1	0	COL4A3	227871653	0.014000	0.17966	0.982000	0.44146	0.539000	0.34962	0.539000	0.23175	1.383000	0.46405	0.467000	0.42956	CCC		0.488	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		A	228163409	C	A	228163409	3	1	497	1	0	0	0	0	1	0	0	0	3693	855	30	4	3933	4	COL4A3	2	228163409	Missense_Mutation	SNP	C	TCGA-CJ-4868-01A-01D-1373-10	122238688	228163409	15035964	7	26869											
DLEC1	9940	hgsc.bcm.edu	37	3	38139264	38139264	+	Silent	SNP	C	C	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr3:38139264C>A	ENST00000308059.6	+	18	2616	c.2595C>A	c.(2593-2595)gcC>gcA	p.A865A	DLEC1_ENST00000346219.3_Silent_p.A865A|DLEC1_ENST00000452631.2_Silent_p.A865A					deleted in lung and esophageal cancer 1									p.A865A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACGTCTCAGCCCTTCAGTTTG	0.627																																																1	Substitution - coding silent(1)	central_nervous_system(1)											64	70	68					3																	38139264		2088	4201	6289	SO:0001819	synonymous_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2595C>A	3.37:g.38139264C>A				Silent	SNP	ENST00000308059.6	37	CCDS2672.2																																																																																				0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		A	38139264	C	A	38139264	2	1	497	1	0	0	0	0	0	0	0	1	4554	610	22	4		4	DLEC1	3	38139264	Silent	SNP	C	TCGA-CJ-4868-01A-01D-1373-10		38139264	159883166	8	26870											
LAMB2	3913	hgsc.bcm.edu	37	3	49159423	49159423	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr3:49159423C>T	ENST00000418109.1	-	30	5041	c.4877G>A	c.(4876-4878)cGg>cAg	p.R1626Q	USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1626Q|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1626	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1626P(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACTGCCCCCCGGATGGCACC	0.602																																																1	Substitution - Missense(1)	ovary(1)											102	97	99					3																	49159423		2203	4300	6503	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4877G>A	3.37:g.49159423C>T	ENSP00000388325:p.Arg1626Gln		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	9.158	1.018083	0.19355	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.32515	1.45;1.45	5.55	-2.35	0.06684	.	0.943055	0.08994	N	0.864045	T	0.16727	0.0402	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.38200	-0.9672	10	0.07325	T	0.83	.	12.3465	0.55124	0.0:0.4809:0.0:0.5191	.	1626	P55268	LAMB2_HUMAN	Q	1626;1626;350	ENSP00000388325:R1626Q;ENSP00000307156:R1626Q	ENSP00000307156:R1626Q	R	-	2	0	LAMB2	49134427	0.000000	0.05858	0.884000	0.34674	0.972000	0.66771	-0.391000	0.07323	-0.681000	0.05204	-0.140000	0.14226	CGG		0.602	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		T	49159423	C	T	49159423	3	4	497	1	0	0	0	0	1	0	0	0	8613	652	23	1	535	1	LAMB2	3	49159423	Missense_Mutation	SNP	C	TCGA-CJ-4868-01A-01D-1373-10	11020159	49159423	148863007	9	26871											
DRD3	1814	hgsc.bcm.edu	37	3	113890723	113890723	+	Silent	SNP	G	G	T	rs149122773		TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr3:113890723G>T	ENST00000460779.1	-	3	406	c.117C>A	c.(115-117)ctC>ctA	p.L39L	DRD3_ENST00000383673.2_Silent_p.L39L|DRD3_ENST00000295881.7_Silent_p.L39L|DRD3_ENST00000467632.1_Silent_p.L39L	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	39					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.L39L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGCCAGGATGAGCGCGCAGT	0.612																																																1	Substitution - coding silent(1)	skin(1)											70	62	65					3																	113890723		2203	4300	6503	SO:0001819	synonymous_variant	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.117C>A	3.37:g.113890723G>T			A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	CCDS2978.1																																																																																				0.612	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		T	113890723	G	T	113890723	2	4	497	1	0	0	0	0	0	0	0	1	4760	1277	45	4		4	DRD3	3	113890723	Silent	SNP	G	TCGA-CJ-4868-01A-01D-1373-10	64731300	113890723	84131707	10	26872											
SERPINI2	5276	hgsc.bcm.edu;ucsc.edu	37	3	167167125	167167125	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr3:167167125T>C	ENST00000476257.1	-	8	1328	c.1030A>G	c.(1030-1032)Agt>Ggt	p.S344G	SERPINI2_ENST00000471111.1_Missense_Mutation_p.S344G|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S344G|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S344G			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	344					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GCAGCTTCACTACCATCTTCA	0.378																																																0													130	111	117					3																	167167125		2203	4300	6503	SO:0001583	missense	5276			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1030A>G	3.37:g.167167125T>C	ENSP00000420621:p.Ser344Gly			Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771675	0.31320	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.63	0.467	0.16721	Serpin domain (3);	0.518820	0.21720	N	0.070137	T	0.81654	0.4868	M	0.79343	2.45	0.31632	N	0.648878	B;B	0.09022	0.002;0.001	B;B	0.17722	0.019;0.005	T	0.75121	-0.3429	10	0.62326	D	0.03	.	5.2059	0.15291	0.0:0.2321:0.1416:0.6263	.	344;344	B4DDY9;O75830	.;SPI2_HUMAN	G	344	ENSP00000420621:S344G;ENSP00000417692:S344G;ENSP00000264677:S344G;ENSP00000419407:S344G	ENSP00000264677:S344G	S	-	1	0	SERPINI2	168649819	0.922000	0.31269	0.170000	0.22879	0.610000	0.37248	0.737000	0.26144	-0.127000	0.11661	0.460000	0.39030	AGT		0.378	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		C	167167125	T	C	167167125	3	2	497	1	0	0	0	0	1	0	0	0	14125	1522	53	3	199	3	SERPINI2	3	167167125	Missense_Mutation	SNP	T	TCGA-CJ-4868-01A-01D-1373-10	53276402	167167125	30855305	11	26873											
DAPP1	27071	hgsc.bcm.edu	37	4	100738085	100738085	+	Silent	SNP	A	A	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr4:100738085A>G	ENST00000512369.1	+	1	83	c.15A>G	c.(13-15)gaA>gaG	p.E5E	DAPP1_ENST00000296414.7_Silent_p.E5E	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	5					protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GCAGAGCAGAACTTCTAGAAG	0.567																																																0													44	48	47					4																	100738085		1991	4167	6158	SO:0001819	synonymous_variant	27071			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.15A>G	4.37:g.100738085A>G			Q8TCK5|Q9UHF2	Silent	SNP	ENST00000512369.1	37	CCDS47112.1																																																																																				0.567	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			G	100738085	A	G	100738085	2	3	497	1	0	0	0	0	0	0	0	1	4241	40	2	3		3	DAPP1	4	100738085	Silent	SNP	A	TCGA-CJ-4868-01A-01D-1373-10		100738085	90416191	12	26874											
DNAH5	1767	hgsc.bcm.edu;ucsc.edu	37	5	13883135	13883135	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr5:13883135T>A	ENST00000265104.4	-	20	3156	c.3052A>T	c.(3052-3054)Att>Ttt	p.I1018F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1018	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGTTGGGAATGGCCAGAGTG	0.512									Kartagener syndrome																																							0													153	139	144					5																	13883135		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3052A>T	5.37:g.13883135T>A	ENSP00000265104:p.Ile1018Phe		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.819373	0.71028	.	.	ENSG00000039139	ENST00000265104	T	0.25749	1.78	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	M	0.90705	3.14	0.80722	D	1	B	0.33477	0.413	B	0.31290	0.127	T	0.41998	-0.9477	10	0.45353	T	0.12	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	1018	Q8TE73	DYH5_HUMAN	F	1018	ENSP00000265104:I1018F	ENSP00000265104:I1018F	I	-	1	0	DNAH5	13936135	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.769000	0.85360	2.313000	0.78055	0.455000	0.32223	ATT		0.512	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		A	13883135	T	A	13883135	3	1	497	1	0	0	0	0	1	0	0	0	4606	1464	51	5	11062	5	DNAH5	5	13883135	Missense_Mutation	SNP	T	TCGA-CJ-4868-01A-01D-1373-10		13883135	167032125	13	26875											
PRSS16	10279	hgsc.bcm.edu	37	6	27216900	27216900	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr6:27216900C>T	ENST00000230582.3	+	4	374	c.359C>T	c.(358-360)cCa>cTa	p.P120L	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	120					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCTTGGCCCCAGCCTGGGGC	0.582																																					NSCLC(178;1118 2105 17078 23587 44429)											0													54	59	57					6																	27216900		2203	4300	6503	SO:0001583	missense	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.359C>T	6.37:g.27216900C>T	ENSP00000230582:p.Pro120Leu		O75416	Missense_Mutation	SNP	ENST00000230582.3	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838840	0.32513	.	.	ENSG00000112812	ENST00000230582;ENST00000343467;ENST00000348953	T	0.22134	1.97	4.04	4.04	0.47022	.	0.519246	0.19397	N	0.115276	T	0.31949	0.0813	M	0.77313	2.365	0.43522	D	0.995796	D;D;P	0.67145	0.996;0.996;0.934	P;D;P	0.64687	0.903;0.928;0.561	T	0.06162	-1.0842	10	0.52906	T	0.07	-20.1907	9.3286	0.38008	0.214:0.786:0.0:0.0	.	11;120;120	Q7Z5N6;C9JI59;Q9NQE7	.;.;TSSP_HUMAN	L	120	ENSP00000230582:P120L	ENSP00000230582:P120L	P	+	2	0	PRSS16	27324879	0.584000	0.26766	0.990000	0.47175	0.064000	0.16182	1.058000	0.30504	2.249000	0.74217	0.557000	0.71058	CCA		0.582	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			T	27216900	C	T	27216900	3	4	497	1	0	0	0	0	1	0	0	0	12621	594	21	2	373	2	PRSS16	6	27216900	Missense_Mutation	SNP	C	TCGA-CJ-4868-01A-01D-1373-10		27216900	143898167	14	26876											
IRAK1BP1	134728	hgsc.bcm.edu;ucsc.edu	37	6	79607672	79607672	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr6:79607672C>G	ENST00000369940.2	+	3	613	c.508C>G	c.(508-510)Ctt>Gtt	p.L170V	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.L83V	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	170					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		TGTTGAGAATCTTCGGTAAGT	0.328																																																0													127	123	124					6																	79607672		2203	4300	6503	SO:0001583	missense	134728			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.508C>G	6.37:g.79607672C>G	ENSP00000358956:p.Leu170Val			Missense_Mutation	SNP	ENST00000369940.2	37	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970156	0.74246	.	.	ENSG00000146243	ENST00000369940	.	.	.	5.48	5.48	0.80851	.	0.137812	0.47852	D	0.000206	T	0.76234	0.3959	M	0.78049	2.395	0.48236	D	0.99961	D	0.89917	1.0	D	0.87578	0.998	T	0.76520	-0.2929	8	.	.	.	-7.4473	17.9231	0.88973	0.0:1.0:0.0:0.0	.	170	Q5VVH5	IKBP1_HUMAN	V	170	.	.	L	+	1	0	IRAK1BP1	79664391	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	5.666000	0.68059	2.566000	0.86566	0.655000	0.94253	CTT		0.328	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	XM_059729		G	79607672	C	G	79607672	3	3	497	1	0	0	0	0	1	0	0	0	7824	913	32	4	518	4	IRAK1BP1	6	79607672	Missense_Mutation	SNP	C	TCGA-CJ-4868-01A-01D-1373-10	52390772	79607672	91507395	15	26877											
EGFR	1956	hgsc.bcm.edu	37	7	55259454	55259454	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr7:55259454C>A	ENST00000275493.2	+	21	2689	c.2512C>A	c.(2512-2514)Ctg>Atg	p.L838M	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.L793M|EGFR_ENST00000454757.2_Missense_Mutation_p.L785M|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> V (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L838V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCACCGCGACCTGGCAGCCAG	0.537		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	1	Substitution - Missense(1)	lung(1)											117	102	107					7																	55259454		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2512C>A	7.37:g.55259454C>A	ENSP00000275493:p.Leu838Met		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671846	0.67928	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.74421	-0.84;-0.84;-0.84	5.82	2.62	0.31277	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	H	0.96015	3.755	0.44085	D	0.996844	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87429	0.2387	10	0.87932	D	0	.	7.3005	0.26418	0.0:0.5788:0.0:0.4212	.	793;838	Q504U8;P00533	.;EGFR_HUMAN	M	793;708;838;785	ENSP00000415559:L793M;ENSP00000275493:L838M;ENSP00000395243:L785M	ENSP00000275493:L838M	L	+	1	2	EGFR	55226948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.132000	0.31418	0.779000	0.33543	0.650000	0.86243	CTG		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		A	55259454	C	A	55259454	3	1	497	1	0	0	0	0	1	0	0	0	4969	680	24	4	2858	4	EGFR	7	55259454	Missense_Mutation	SNP	C	TCGA-CJ-4868-01A-01D-1373-10		55259454	103879209	16	26878											
UNC5D	137970	hgsc.bcm.edu;ucsc.edu	37	8	35647991	35647991	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr8:35647991G>T	ENST00000404895.2	+	17	3100	c.2772G>T	c.(2770-2772)gaG>gaT	p.E924D	AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000449677.1_Missense_Mutation_p.E500D|UNC5D_ENST00000287272.2_Missense_Mutation_p.E855D|UNC5D_ENST00000420357.1_Missense_Mutation_p.E857D|UNC5D_ENST00000453357.2_Missense_Mutation_p.E919D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E929D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	924	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E919D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCTTGAAGAGATTGGGAGGA	0.488																																																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											139	113	122					8																	35647991		2203	4300	6503	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2772G>T	8.37:g.35647991G>T	ENSP00000385143:p.Glu924Asp		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688919	0.68271	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.72	3.93	0.45458	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	L	0.43152	1.355	0.42849	D	0.994073	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.998;0.99;0.994	D	0.85147	0.0984	10	0.38643	T	0.18	-22.6491	9.385	0.38338	0.2158:0.0:0.7842:0.0	.	500;919;924	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	D	924;857;855;929;919;500	ENSP00000385143:E924D;ENSP00000392739:E857D;ENSP00000287272:E855D;ENSP00000412652:E929D;ENSP00000394303:E919D;ENSP00000397211:E500D	ENSP00000287272:E855D	E	+	3	2	UNC5D	35767533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.762000	0.26503	0.774000	0.33427	0.557000	0.71058	GAG		0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			T	35647991	G	T	35647991	3	4	497	1	0	0	0	0	1	0	0	0	17000	933	33	4	2838	4	UNC5D	8	35647991	Missense_Mutation	SNP	G	TCGA-CJ-4868-01A-01D-1373-10		35647991	110716031	17	26879											
CUBN	8029	hgsc.bcm.edu	37	10	17169882	17169882	+	Silent	SNP	A	A	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr10:17169882A>G	ENST00000377833.4	-	3	359	c.294T>C	c.(292-294)agT>agC	p.S98S	CUBN_ENST00000377823.1_Silent_p.S98S	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	98					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACCAATTGCACTCCCTTTTA	0.323																																																0													208	204	206					10																	17169882		2202	4300	6502	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.294T>C	10.37:g.17169882A>G			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.323	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	17169882	A	G	17169882	2	3	497	1	0	0	0	0	0	0	0	1	4053	156	6	3		3	CUBN	10	17169882	Silent	SNP	A	TCGA-CJ-4868-01A-01D-1373-10		17169882	118364865	18	26880											
CD151	977	hgsc.bcm.edu	37	11	837500	837500	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr11:837500A>G	ENST00000397420.3	+	7	746	c.497A>G	c.(496-498)gAc>gGc	p.D166G	CD151_ENST00000528011.1_Missense_Mutation_p.D166G|CD151_ENST00000322008.4_Missense_Mutation_p.D166G|CD151_ENST00000397421.1_Missense_Mutation_p.D166G			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	166					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACTGGCGAGACAGTGAGTGG	0.622																																					Esophageal Squamous(14;501 559 15826 37823 38305)											0													86	80	82					11																	837500		2202	4298	6500	SO:0001583	missense	977			AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"CD molecules", "Blood group antigens", "Tetraspanins"	1630	protein-coding gene	gene with protein product		602243	"CD151 antigen", "CD151 antigen (Raph blood group)"			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.497A>G	11.37:g.837500A>G	ENSP00000380565:p.Asp166Gly		A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	ENST00000397420.3	37	CCDS7719.1	.	.	.	.	.	.	.	.	.	.	A	8.948	0.967382	0.18659	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000528143;ENST00000526693;ENST00000524748;ENST00000527341;ENST00000530320;ENST00000528011	T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	4.41	4.41	0.53225	Tetraspanin, EC2 domain (1);	0.242015	0.47852	D	0.000216	T	0.74876	0.3774	L	0.48986	1.54	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.70475	-0.4861	10	0.29301	T	0.29	.	13.4745	0.61301	1.0:0.0:0.0:0.0	.	166	P48509	CD151_HUMAN	G	166;166;166;141;42;166;166;166;166;166	ENSP00000380565:D166G;ENSP00000324101:D166G;ENSP00000380566:D166G;ENSP00000432258:D141G;ENSP00000435054:D166G;ENSP00000431403:D166G;ENSP00000436591:D166G;ENSP00000433787:D166G;ENSP00000432990:D166G	ENSP00000324101:D166G	D	+	2	0	CD151	827500	1.000000	0.71417	0.918000	0.36340	0.443000	0.32047	5.845000	0.69437	1.856000	0.53863	0.459000	0.35465	GAC		0.622	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	NM_004357		G	837500	A	G	837500	3	3	497	1	0	0	0	0	1	0	0	0	2967	275	10	3	515	3	CD151	11	837500	Missense_Mutation	SNP	A	TCGA-CJ-4868-01A-01D-1373-10		837500	134169016	19	26881											
GUCY1A2	2977	hgsc.bcm.edu;ucsc.edu	37	11	106558323	106558323	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr11:106558323C>A	ENST00000526355.2	-	8	2619	c.2151G>T	c.(2149-2151)aaG>aaT	p.K717N	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.K748N|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.K738N	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	717					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.K717N(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TGTAGGAAACCTTTTTTATTC	0.478																																																1	Substitution - Missense(1)	pancreas(1)											169	165	166					11																	106558323		2201	4298	6499	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2151G>T	11.37:g.106558323C>A	ENSP00000431245:p.Lys717Asn		A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139779	0.56936	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.88586	-1.99;-2.4;-2.0	5.38	3.45	0.39498	.	0.000000	0.47093	U	0.000254	D	0.88883	0.6558	L	0.27053	0.805	0.48901	D	0.999724	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.991;0.996;0.991	D	0.85555	0.1224	10	0.30854	T	0.27	.	10.243	0.43324	0.0:0.7672:0.0:0.2328	.	738;748;717	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	N	717;748;738	ENSP00000431245:K717N;ENSP00000282249:K748N;ENSP00000344874:K738N	ENSP00000282249:K748N	K	-	3	2	GUCY1A2	106063533	0.985000	0.35326	1.000000	0.80357	0.960000	0.62799	0.229000	0.17833	0.714000	0.32081	0.305000	0.20034	AAG		0.478	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			A	106558323	C	A	106558323	3	1	497	1	0	0	0	0	1	0	0	0	6895	680	24	4	51	4	GUCY1A2	11	106558323	Missense_Mutation	SNP	C	TCGA-CJ-4868-01A-01D-1373-10	105720823	106558323	28448193	20	26882											
SPATA8	145946	hgsc.bcm.edu	37	15	97328235	97328235	+	Missense_Mutation	SNP	G	G	T	rs536286365		TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr15:97328235G>T	ENST00000328504.3	+	3	473	c.206G>T	c.(205-207)tGt>tTt	p.C69F	SPATA8_ENST00000558553.1_Silent_p.L28L|SPATA8-AS1_ENST00000558722.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	69										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GAGAACAGCTGTTCTCACGGA	0.453																																																0													138	130	132					15																	97328235		2197	4298	6495	SO:0001583	missense	145946			AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.206G>T	15.37:g.97328235G>T	ENSP00000328149:p.Cys69Phe		Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	G	5.267	0.234697	0.09969	.	.	ENSG00000185594	ENST00000328504	T	0.33865	1.39	3.02	0.967	0.19674	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	P	0.40794	0.729	B	0.35813	0.211	T	0.11842	-1.0571	9	0.87932	D	0	.	3.5793	0.07946	0.1682:0.2588:0.573:0.0	.	69	Q6RVD6	SPAT8_HUMAN	F	69	ENSP00000328149:C69F	ENSP00000328149:C69F	C	+	2	0	SPATA8	95129239	0.001000	0.12720	0.014000	0.15608	0.002000	0.02628	0.264000	0.18497	0.267000	0.21916	-0.481000	0.04817	TGT		0.453	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		T	97328235	G	T	97328235	3	4	497	1	0	0	0	0	1	0	0	0	15020	1377	48	4	216	4	SPATA8	15	97328235	Missense_Mutation	SNP	G	TCGA-CJ-4868-01A-01D-1373-10		97328235	5203157	21	26883											
C20orf70	140683	hgsc.bcm.edu;ucsc.edu	37	20	31761897	31761897	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr20:31761897C>A	ENST00000253362.2	+	4	461	c.315C>A	c.(313-315)agC>agA	p.S105R	BPIFA2_ENST00000354932.5_Missense_Mutation_p.S105R			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	105						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										TGAAAATCAGCAACTCCCTCA	0.542																																																0													173	117	136					20																	31761897		2203	4300	6503	SO:0001583	missense	0			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.315C>A	20.37:g.31761897C>A	ENSP00000253362:p.Ser105Arg		Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	C	4.213	0.038367	0.08148	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.06218	3.33;3.33	4.11	-0.643	0.11482	.	1.532730	0.03370	N	0.198765	T	0.05181	0.0138	L	0.33485	1.01	0.09310	N	1	B	0.32968	0.392	B	0.35510	0.204	T	0.34551	-0.9824	10	0.12430	T	0.62	-15.8862	2.2899	0.04136	0.414:0.2087:0.0:0.3774	.	105	Q96DR5	BPIA2_HUMAN	R	105	ENSP00000253362:S105R;ENSP00000347012:S105R	ENSP00000253362:S105R	S	+	3	2	BPIFA2	31225558	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.120000	0.03273	-0.090000	0.12462	-0.314000	0.08810	AGC		0.542	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		A	31761897	C	A	31761897	3	1	497	1	0	0	0	0	1	0	0	0	2118	709	25	4	325	4	C20orf70	20	31761897	Missense_Mutation	SNP	C	TCGA-CJ-4868-01A-01D-1373-10		31761897	31263623	22	26884											
MANBAL	63905	hgsc.bcm.edu	37	20	35929689	35929692	+	Frame_Shift_Del	DEL	CACC	CACC	-			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	CACC	CACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chr20:35929689_35929692delCACC	ENST00000373605.3	+	3	835_838	c.23_26delCACC	c.(22-27)tcacctfs	p.SP8fs	MANBAL_ENST00000397150.1_Frame_Shift_Del_p.SP8fs|MANBAL_ENST00000397151.1_Frame_Shift_Del_p.SP8fs|MANBAL_ENST00000397156.3_Frame_Shift_Del_p.SP8fs|MANBAL_ENST00000397152.3_Frame_Shift_Del_p.SP8fs|MANBAL_ENST00000373606.3_Frame_Shift_Del_p.SP8fs			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	8						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				CTAGACTTCTCACCTCCGGAGGTG	0.549																																																0																																										SO:0001589	frameshift_variant	63905				CCDS13293.1	20q11.23	2013-09-20			ENSG00000101363	ENSG00000101363			15799	protein-coding gene	gene with protein product							Standard	NM_022077		Approved	dJ1141E15.2	uc002xgv.3	Q9NQG1	OTTHUMG00000032414	ENST00000373605.3:c.23_26delCACC	20.37:g.35929689_35929692delCACC	ENSP00000362707:p.Ser8fs		A8KAA6|E1P5V3	Frame_Shift_Del	DEL	ENST00000373605.3	37	CCDS13293.1																																																																																				0.549	MANBAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079096.2	NM_022077		-	35929692	CACC	-	35929689	7	5	497	1	0	1	0	1	0	0	0	0	9222	838	29	0	25	0	MANBAL	20	35929689	Frame_Shift_Del	DEL	CACC	TCGA-CJ-4868-01A-01D-1373-10	4167792	35929689	27095831	23	26885											
CXorf23	256643	hgsc.bcm.edu	37	X	19971168	19971168	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4868-01A-01D-1373-10	TCGA-CJ-4868-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3e85207c-5e77-480a-969e-9c891ed5b429	22ab8db8-133d-471f-b436-055c6bfd3b19	g.chrX:19971168T>C	ENST00000379682.4	-	6	1600	c.1567A>G	c.(1567-1569)Aga>Gga	p.R523G	CXorf23_ENST00000356980.3_Splice_Site_p.R523G|CXorf23_ENST00000379687.3_Splice_Site_p.R523G			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	523						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						ATATCTATTCTCCTAAAATAA	0.303																																																0													57	57	57					X																	19971168		2203	4300	6503	SO:0001630	splice_region_variant	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1566-1A>G	X.37:g.19971168T>C			A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.56|16.56	3.157788|3.157788	0.57368|0.57368	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000340625|ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	.|T;T;T	.|0.28454	.|1.61;1.61;1.61	5.97|5.97	4.8|4.8	0.61643|0.61643	.|.	.|.	.|.	.|.	.|.	T|T	0.52853|0.52853	0.1760|0.1760	M|M	0.78049|0.78049	2.395|2.395	0.32874|0.32874	D|D	0.509621|0.509621	.|D;D;D	.|0.69078	.|0.997;0.997;0.997	.|D;D;D	.|0.65443	.|0.935;0.913;0.913	T|T	0.66139|0.66139	-0.5998|-0.5998	5|8	.|.	.|.	.|.	.|.	11.0422|11.0422	0.47838|0.47838	0.0:0.0:0.1575:0.8425|0.0:0.0:0.1575:0.8425	.|.	.|234;523;523	.|B7ZLM9;A2AJT9-2;A2AJT9	.|.;.;CX023_HUMAN	G|G	131|523;523;523;411	.|ENSP00000369009:R523G;ENSP00000369004:R523G;ENSP00000349470:R523G	.|.	E|R	-|-	2|1	0|2	CXorf23|CXorf23	19881089|19881089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	2.148000|2.148000	0.42235|0.42235	0.850000|0.850000	0.35239|0.35239	0.486000|0.486000	0.48141|0.48141	GAG|AGA		0.303	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279	Missense_Mutation	C	19971168	T	C	19971168	5	2	497	1	0	0	0	0	0	0	1	0	4105	1565	54	3	505	3	CXorf23	23	19971168	Splice_Site	SNP	T	TCGA-CJ-4868-01A-01D-1373-10		19971168	135299392	24	26886											
RRAGC	64121	broad.mit.edu	37	1	39321416	39321416	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:39321416T>C	ENST00000373001.3	-	3	781	c.605A>G	c.(604-606)gAc>gGc	p.D202G		NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				ATCTGCAAGGTCATCATTGGC	0.398																																																0													205	190	195					1																	39321416		2203	4300	6503	SO:0001583	missense	64121			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.605A>G	1.37:g.39321416T>C	ENSP00000362092:p.Asp202Gly			Missense_Mutation	SNP	ENST00000373001.3	37	CCDS430.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019065	0.75275	.	.	ENSG00000116954	ENST00000373001	D	0.82081	-1.57	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	L	0.56199	1.76	0.80722	D	1	B;B;B	0.28208	0.203;0.02;0.019	B;B;B	0.30572	0.117;0.071;0.048	T	0.80381	-0.1406	10	0.66056	D	0.02	-32.7509	16.4311	0.83844	0.0:0.0:0.0:1.0	.	168;136;202	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	G	202	ENSP00000362092:D202G	ENSP00000362092:D202G	D	-	2	0	RRAGC	39094003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.277000	0.76020	0.528000	0.53228	GAC		0.398	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		C	39321416	T	C	39321416	3	2	498	1	0	0	0	0	1	0	0	0	13680	1667	58	3	614	3	RRAGC	1	39321416	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08		39321416	209929205	1	26887											
PTPRF	5792	broad.mit.edu	37	1	44035299	44035299	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:44035299G>T	ENST00000359947.4	+	6	758	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W	PTPRF_ENST00000372413.3_Missense_Mutation_p.G140W|PTPRF_ENST00000372414.3_Missense_Mutation_p.G140W|PTPRF_ENST00000438120.1_Missense_Mutation_p.G140W	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	140	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCGACATGGGGCCTCAGCT	0.577																																																0													94	95	95					1																	44035299		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.418G>T	1.37:g.44035299G>T	ENSP00000353030:p.Gly140Trp		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878331	0.91740	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34725	N	0.003739	T	0.76948	0.4059	L	0.39692	1.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.927	T	0.79465	-0.1792	10	0.87932	D	0	.	18.6891	0.91576	0.0:0.0:1.0:0.0	.	140;140;140;140	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	W	140	ENSP00000353030:G140W;ENSP00000398822:G140W;ENSP00000361491:G140W;ENSP00000361490:G140W;ENSP00000413306:G140W	ENSP00000353030:G140W	G	+	1	0	PTPRF	43807886	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.503000	0.84419	0.561000	0.74099	GGG		0.577	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44035299	G	T	44035299	3	4	498	1	0	0	0	0	1	0	0	0	12807	1232	43	4	432	4	PTPRF	1	44035299	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	4713883	44035299	205215322	2	26888											
UROD	7389	broad.mit.edu	37	1	45480162	45480162	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:45480162A>G	ENST00000246337.4	+	7	807	c.688A>G	c.(688-690)Aac>Gac	p.N230D	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	230					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					ACAGCTCTTCAACAAGTTTGC	0.517									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													88	82	84					1																	45480162		2203	4300	6503	SO:0001583	missense	7389	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.688A>G	1.37:g.45480162A>G	ENSP00000246337:p.Asn230Asp	931	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP	ENST00000246337.4	37	CCDS518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.246|0.246	-1.010279|-1.010279	0.02095|0.02095	.|.	.|.	ENSG00000126088|ENSG00000126088	ENST00000246337;ENST00000372139|ENST00000428106	D|.	0.93811|.	-3.29|.	5.16|5.16	3.97|3.97	0.46021|0.46021	Uroporphyrinogen decarboxylase (URO-D) (1);|.	1.210290|.	0.05290|.	N|.	0.521009|.	T|T	0.09862|0.09862	0.0242|0.0242	N|N	0.01800|0.01800	-0.715|-0.715	0.21220|0.21220	N|N	0.999759|0.999759	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.17776|0.17776	-1.0358|-1.0358	10|5	0.48119|.	T|.	0.1|.	-13.959|-13.959	5.0277|5.0277	0.14393|0.14393	0.5257:0.1478:0.0:0.3265|0.5257:0.1478:0.0:0.3265	.|.	230|.	P06132|.	DCUP_HUMAN|.	D|R	230;169|169	ENSP00000246337:N230D|.	ENSP00000246337:N230D|.	N|Q	+|+	1|2	0|0	UROD|UROD	45252749|45252749	0.087000|0.087000	0.21565|0.21565	0.925000|0.925000	0.36789|0.36789	0.651000|0.651000	0.38670|0.38670	0.958000|0.958000	0.29227|0.29227	2.160000|2.160000	0.67779|0.67779	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.517	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		G	45480162	A	G	45480162	3	3	498	1	0	0	0	0	1	0	0	0	17034	130	5	3	714	3	UROD	1	45480162	Missense_Mutation	SNP	A	TCGA-CJ-4869-01A-02D-1429-08	1444863	45480162	203770459	3	26889											
WDR47	22911	broad.mit.edu	37	1	109554274	109554274	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:109554274C>G	ENST00000369962.3	-	5	616	c.394G>C	c.(394-396)Gat>Cat	p.D132H	WDR47_ENST00000369965.4_Missense_Mutation_p.D132H|WDR47_ENST00000357672.3_Missense_Mutation_p.D104H|WDR47_ENST00000361054.3_Missense_Mutation_p.D104H|WDR47_ENST00000400794.3_Missense_Mutation_p.D139H			O94967	WDR47_HUMAN	WD repeat domain 47	132					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTATAGTCATCTTTAGAAGGA	0.393																																																0													124	124	124					1																	109554274		2203	4296	6499	SO:0001583	missense	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.394G>C	1.37:g.109554274C>G	ENSP00000358979:p.Asp132His		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175384	0.78564	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772;ENST00000529074;ENST00000531337	T;T;T;T;T	0.57907	0.4;0.45;0.37;0.41;0.37	5.6	5.6	0.85130	.	0.162339	0.53938	D	0.000050	T	0.54647	0.1871	L	0.46157	1.445	0.80722	D	1	P;P;D;P	0.53151	0.938;0.771;0.958;0.693	P;P;P;P	0.54100	0.742;0.498;0.65;0.606	T	0.58346	-0.7652	10	0.87932	D	0	-16.722	19.6115	0.95608	0.0:1.0:0.0:0.0	.	104;139;132;132	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	H	139;132;104;132;104;132;59;32	ENSP00000383599:D139H;ENSP00000358979:D132H;ENSP00000354339:D104H;ENSP00000358982:D132H;ENSP00000350301:D104H	ENSP00000350301:D104H	D	-	1	0	WDR47	109355797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.631000	0.89168	0.563000	0.77884	GAT		0.393	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		G	109554274	C	G	109554274	3	3	498	1	0	0	0	0	1	0	0	0	17305	913	32	4	2412	4	WDR47	1	109554274	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	64074112	109554274	139696347	4	26890											
TXNIP	10628	broad.mit.edu	37	1	145440991	145440991	+	Missense_Mutation	SNP	G	G	C	rs150987946		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:145440991G>C	ENST00000369317.4	+	7	1412	c.1078G>C	c.(1078-1080)Gac>Cac	p.D360H	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	360					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCTCTCAAGACAGCCCTAT	0.453																																																0													197	180	185					1																	145440991		2203	4300	6503	SO:0001583	missense	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1078G>C	1.37:g.145440991G>C	ENSP00000358323:p.Asp360His		B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201757	0.79015	.	.	ENSG00000117289	ENST00000369317	T	0.08634	3.07	5.18	5.18	0.71444	.	0.156720	0.53938	D	0.000042	T	0.09113	0.0225	L	0.55481	1.735	0.80722	D	1	B;D	0.69078	0.103;0.997	B;P	0.53912	0.051;0.737	T	0.31336	-0.9947	10	0.13470	T	0.59	-22.6263	16.2393	0.82399	0.0:0.0:1.0:0.0	.	305;360	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	H	360	ENSP00000358323:D360H	ENSP00000358323:D360H	D	+	1	0	TXNIP	144152348	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.857000	0.75455	2.711000	0.92665	0.655000	0.94253	GAC		0.453	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		C	145440991	G	C	145440991	3	2	498	1	0	0	0	0	1	0	0	0	16808	942	33	4	1104	4	TXNIP	1	145440991	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	35886717	145440991	103809630	5	26891											
GPR89A	653519	broad.mit.edu	37	1	145788844	145788844	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:145788844T>G	ENST00000313835.9	-	9	882	c.739A>C	c.(739-741)Att>Ctt	p.I247L	GPR89A_ENST00000462900.2_Missense_Mutation_p.I222L|GPR89A_ENST00000478703.1_Intron|GPR89A_ENST00000534502.1_Missense_Mutation_p.I222L|GPR89A_ENST00000454423.3_Missense_Mutation_p.I127L			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	247					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TCCTGTTGAATAAGAGTAAGA	0.388																																																0													80	83	82					1																	145788844		2203	4296	6499	SO:0001583	missense	653519			AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.739A>C	1.37:g.145788844T>G	ENSP00000319673:p.Ile247Leu		A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	ENST00000313835.9	37	CCDS41377.1	.	.	.	.	.	.	.	.	.	.	.	1.092	-0.663675	0.03428	.	.	ENSG00000117262	ENST00000313835;ENST00000454423;ENST00000534502;ENST00000462900	.	.	.	4.45	3.32	0.38043	.	0.055889	0.64402	D	0.000001	T	0.04227	0.0117	N	0.00648	-1.295	0.58432	D	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45160	-0.9280	9	0.02654	T	1	-21.2744	7.4063	0.26993	0.0:0.1065:0.0:0.8935	.	247;247	P0CG08;B7ZAQ6	GPHRB_HUMAN;GPHRA_HUMAN	L	247;127;222;222	.	ENSP00000319673:I247L	I	-	1	0	GPR89A	144500201	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.387000	0.52501	1.654000	0.50703	0.172000	0.16884	ATT		0.388	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2	NM_001097612		G	145788844	T	G	145788844	3	3	498	1	0	0	0	0	1	0	0	0	6720	1406	49	5	652	5	GPR89A	1	145788844	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08	347853	145788844	103461777	6	26892											
NTRK1	4914	broad.mit.edu	37	1	156836721	156836721	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:156836721C>G	ENST00000524377.1	+	4	420	c.379C>G	c.(379-381)Ctg>Gtg	p.L127V	NTRK1_ENST00000368196.3_Missense_Mutation_p.L127V|NTRK1_ENST00000358660.3_Missense_Mutation_p.L127V|NTRK1_ENST00000392302.2_Missense_Mutation_p.L97V	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	127					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTTCAACGCTCTGGAGTCTCT	0.592			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0													104	93	97					1																	156836721		2203	4300	6503	SO:0001583	missense	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.379C>G	1.37:g.156836721C>G	ENSP00000431418:p.Leu127Val		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369504	0.42003	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.51	1.39	0.22231	.	0.179008	0.26673	N	0.023086	T	0.49423	0.1556	L	0.55990	1.75	0.49389	D	0.999789	B;P;B;B	0.43024	0.297;0.798;0.007;0.067	B;P;B;B	0.46144	0.406;0.505;0.005;0.17	T	0.52830	-0.8523	10	0.87932	D	0	.	6.1145	0.20120	0.0:0.6267:0.0:0.3733	.	127;127;127;97	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	V	97;127;127;127	ENSP00000376120:L97V;ENSP00000357179:L127V;ENSP00000431418:L127V;ENSP00000351486:L127V	ENSP00000351486:L127V	L	+	1	2	NTRK1	155103345	0.630000	0.27155	0.994000	0.49952	0.965000	0.64279	1.002000	0.29796	0.462000	0.27095	0.462000	0.41574	CTG		0.592	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		G	156836721	C	G	156836721	3	3	498	1	0	0	0	0	1	0	0	0	10708	912	32	4	523	4	NTRK1	1	156836721	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	11047877	156836721	92413900	7	26893											
TADA1	117143	broad.mit.edu	37	1	166826832	166826832	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:166826832G>A	ENST00000367874.4	-	8	1073	c.980C>T	c.(979-981)gCa>gTa	p.A327V	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	327					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						CTCCTTGGCTGCCAAGCGCTG	0.453																																																0													94	99	97					1																	166826832		2203	4300	6503	SO:0001583	missense	117143			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.980C>T	1.37:g.166826832G>A	ENSP00000356848:p.Ala327Val		A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847939	0.71603	.	.	ENSG00000152382	ENST00000367874	T	0.55930	0.49	4.75	3.83	0.44106	.	0.109197	0.64402	N	0.000008	T	0.28234	0.0697	L	0.51422	1.61	0.43326	D	0.995356	P	0.51057	0.941	B	0.37780	0.258	T	0.15925	-1.0420	9	0.42905	T	0.14	-2.9455	12.3	0.54868	0.0:0.0:0.8294:0.1706	.	327	Q96BN2	TADA1_HUMAN	V	327	ENSP00000356848:A327V	ENSP00000356848:A327V	A	-	2	0	TADA1	165093456	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.080000	0.94040	1.315000	0.45114	0.655000	0.94253	GCA		0.453	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		A	166826832	G	A	166826832	3	1	498	1	0	0	0	0	1	0	0	0	15514	1319	46	2	31	2	TADA1	1	166826832	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	9990111	166826832	82423789	8	26894											
C1orf227	149643	broad.mit.edu	37	1	213009452	213009453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:213009452_213009453insT	ENST00000332912.3	-	2	146_147	c.39_40insA	c.(37-42)aaacatfs	p.H14fs		NM_001024601.2	NP_001019772.1	Q537H7	SPT45_HUMAN		14										kidney(1)|large_intestine(1)|lung(1)	3						CTTACTCCATGTTTTTTCATTA	0.366																																																0																																										SO:0001589	frameshift_variant	149643																														ENST00000332912.3:c.40dupA	1.37:g.213009458_213009458dupT	ENSP00000419160:p.His14fs			Frame_Shift_Ins	INS	ENST00000332912.3	37	CCDS31020.1																																																																																				0.366	C1orf227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089672.2			T	213009453	-	T	213009452	7	5	498	1	0	1	1	0	0	0	0	0	2035	1377	48	0	264	0	C1orf227	1	213009452	Frame_Shift_Ins	INS	-	TCGA-CJ-4869-01A-02D-1429-08	46182620	213009452	36241169	9	26895											
PROX1	5629	broad.mit.edu	37	1	214170392	214170392	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:214170392A>T	ENST00000366958.4	+	2	1122	c.514A>T	c.(514-516)Ata>Tta	p.I172L	PROX1_ENST00000261454.4_Missense_Mutation_p.I172L|PROX1_ENST00000435016.1_Missense_Mutation_p.I172L|PROX1_ENST00000498508.2_Missense_Mutation_p.I172L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	172					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GGTTGAGAATATAATTCGGGG	0.507																																																0													54	60	58					1																	214170392		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.514A>T	1.37:g.214170392A>T	ENSP00000355925:p.Ile172Leu		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.822398	0.71028	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.74647	2.275	0.80722	D	1	D	0.57899	0.981	D	0.70716	0.97	T	0.55270	-0.8167	10	0.72032	D	0.01	-3.9116	16.0334	0.80603	1.0:0.0:0.0:0.0	.	172	Q92786	PROX1_HUMAN	L	172	ENSP00000419517:I172L;ENSP00000420283:I172L;ENSP00000355925:I172L;ENSP00000400694:I172L;ENSP00000261454:I172L	ENSP00000261454:I172L	I	+	1	0	PROX1	212237015	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.287000	0.95975	2.243000	0.73865	0.533000	0.62120	ATA		0.507	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		T	214170392	A	T	214170392	3	4	498	1	0	0	0	0	1	0	0	0	12565	449	16	5	516	5	PROX1	1	214170392	Missense_Mutation	SNP	A	TCGA-CJ-4869-01A-02D-1429-08	1160940	214170392	35080229	10	26896											
IARS2	55699	broad.mit.edu	37	1	220284279	220284279	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:220284279G>T	ENST00000302637.5	+	11	1583	c.1479G>T	c.(1477-1479)aaG>aaT	p.K493N	IARS2_ENST00000366922.1_Splice_Site_p.K421N	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	493					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CTGCAGCCAAGGTATAAAAAG	0.453																																																0													93	88	90					1																	220284279		2203	4300	6503	SO:0001630	splice_region_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1479+1G>T	1.37:g.220284279G>T			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Splice_Site	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833794	0.71258	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.35973	1.28;1.28	5.3	5.3	0.74995	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.137673	0.64402	D	0.000003	T	0.50069	0.1594	L	0.55743	1.74	0.80722	D	1	P	0.48998	0.918	P	0.52514	0.701	T	0.51545	-0.8692	10	0.87932	D	0	-7.9171	19.3042	0.94153	0.0:0.0:1.0:0.0	.	493	Q9NSE4	SYIM_HUMAN	N	421;493	ENSP00000355889:K421N;ENSP00000303279:K493N	ENSP00000303279:K493N	K	+	3	2	IARS2	218350902	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	7.251000	0.78297	2.640000	0.89533	0.563000	0.77884	AAG		0.453	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	Missense_Mutation	T	220284279	G	T	220284279	5	4	498	1	0	0	0	0	0	0	1	0	7476	1014	35	4	1521	4	IARS2	1	220284279	Splice_Site	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	6113887	220284279	28966342	11	26897											
SPTBN1	6711	broad.mit.edu	37	2	54880792	54880792	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr2:54880792C>T	ENST00000356805.4	+	27	5905	c.5624C>T	c.(5623-5625)gCg>gTg	p.A1875V	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A1862V	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1875	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCGGCCTATGCGGGTGACAAG	0.657																																																0													37	41	39					2																	54880792		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5624C>T	2.37:g.54880792C>T	ENSP00000349259:p.Ala1875Val		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695934	0.96802	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.35048	1.33;1.33	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.76071	0.945;0.876;0.987	T	0.69702	-0.5074	10	0.87932	D	0	.	19.8715	0.96852	0.0:1.0:0.0:0.0	.	1875;1862;1875	Q01082-2;Q01082-3;Q01082	.;.;SPTB2_HUMAN	V	1875;1862	ENSP00000349259:A1875V;ENSP00000334156:A1862V	ENSP00000334156:A1862V	A	+	2	0	SPTBN1	54734296	1.000000	0.71417	0.412000	0.26496	0.956000	0.61745	7.696000	0.84270	2.714000	0.92807	0.655000	0.94253	GCG		0.657	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			T	54880792	C	T	54880792	3	4	498	1	0	0	0	0	1	0	0	0	15124	768	27	1	5839	1	SPTBN1	2	54880792	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08		54880792	188318581	12	26898											
RGPD3	653489	broad.mit.edu	37	2	107041102	107041102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr2:107041102delT	ENST00000409886.3	-	20	3408	c.3321delA	c.(3319-3321)aaafs	p.K1107fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.K1107fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1107	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TAGCACACACTTTTAGTACTT	0.423																																																0													18	14	15					2																	107041102		692	1589	2281	SO:0001589	frameshift_variant	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3321delA	2.37:g.107041102delT	ENSP00000386588:p.Lys1107fs		B8ZZM4	Frame_Shift_Del	DEL	ENST00000409886.3	37	CCDS46379.1																																																																																				0.423	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		-	107041102	T	-	107041102	7	5	498	1	0	1	0	1	0	0	0	0	13293	1606	56	0	1971	0	RGPD3	2	107041102	Frame_Shift_Del	DEL	T	TCGA-CJ-4869-01A-02D-1429-08	52160310	107041102	136158271	13	26899											
CLASP1	23332	broad.mit.edu	37	2	122363357	122363357	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr2:122363357C>T	ENST00000263710.4	-	2	504	c.115G>A	c.(115-117)Gac>Aac	p.D39N	CLASP1_ENST00000397587.3_Missense_Mutation_p.D39N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D39N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D39N|Y_RNA_ENST00000410535.1_RNA|CLASP1_ENST00000455322.2_Missense_Mutation_p.D39N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	39					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGCTCAAGGTCAGCAGACTTC	0.478																																																0													164	163	163					2																	122363357		2018	4181	6199	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.115G>A	2.37:g.122363357C>T	ENSP00000263710:p.Asp39Asn		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.869865	0.91587	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000409078	T;T;T;T;T	0.68025	-0.3;2.25;2.25;2.25;2.25	4.96	4.96	0.65561	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	M	0.80982	2.52	0.80722	D	1	P;P;P;P	0.52316	0.952;0.873;0.799;0.835	P;P;B;B	0.49477	0.612;0.517;0.318;0.394	T	0.80906	-0.1173	10	0.62326	D	0.03	-3.6912	18.3979	0.90505	0.0:1.0:0.0:0.0	.	39;39;39;39	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	N	39	ENSP00000263710:D39N;ENSP00000389372:D39N;ENSP00000380717:D39N;ENSP00000441625:D39N;ENSP00000386442:D39N	ENSP00000263710:D39N	D	-	1	0	CLASP1	122079827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.578000	0.87016	0.563000	0.77884	GAC		0.478	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		T	122363357	C	T	122363357	3	4	498	1	0	0	0	0	1	0	0	0	3456	826	29	2	4709	2	CLASP1	2	122363357	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	15322255	122363357	120836016	14	26900											
SGOL2	151246	broad.mit.edu	37	2	201434403	201434403	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr2:201434403A>G	ENST00000357799.4	+	6	589	c.491A>G	c.(490-492)aAt>aGt	p.N164S	SGOL2_ENST00000409203.3_Missense_Mutation_p.N164S	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	164					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTAACTTCAAATGATGATGAA	0.318																																																0													80	74	76					2																	201434403		1857	4082	5939	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.491A>G	2.37:g.201434403A>G	ENSP00000350447:p.Asn164Ser		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	9.266	1.044532	0.19748	.	.	ENSG00000163535	ENST00000357799;ENST00000409203	T;T	0.62498	0.02;0.02	5.19	2.7	0.31948	.	1.095090	0.06854	N	0.797798	T	0.53690	0.1812	L	0.51422	1.61	0.22280	N	0.999233	B;B;B;B	0.31817	0.194;0.194;0.194;0.341	B;B;B;B	0.31101	0.082;0.082;0.082;0.124	T	0.45175	-0.9279	10	0.36615	T	0.2	-0.0082	5.2754	0.15647	0.7285:0.1787:0.0928:0.0	.	164;164;164;164	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	S	164	ENSP00000350447:N164S;ENSP00000386249:N164S	ENSP00000350447:N164S	N	+	2	0	SGOL2	201142648	1.000000	0.71417	0.994000	0.49952	0.551000	0.35334	1.648000	0.37271	0.997000	0.38969	-0.334000	0.08254	AAT		0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		G	201434403	A	G	201434403	3	3	498	1	0	0	0	0	1	0	0	0	14223	101	4	3	509	3	SGOL2	2	201434403	Missense_Mutation	SNP	A	TCGA-CJ-4869-01A-02D-1429-08	79071046	201434403	41764970	15	26901											
SP140	11262	broad.mit.edu	37	2	231150512	231150512	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr2:231150512C>T	ENST00000392045.3	+	17	1724	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	SP140_ENST00000343805.6_Missense_Mutation_p.A477V|SP140_ENST00000417495.3_Missense_Mutation_p.A423V|SP140_ENST00000350136.5_Missense_Mutation_p.A406V|SP140_ENST00000420434.3_Missense_Mutation_p.A510V|SP140_ENST00000486687.2_Missense_Mutation_p.A461V	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	537					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAAAGAAGGCGAACGTGAAT	0.448																																																0													161	161	161					2																	231150512		1867	4100	5967	SO:0001583	missense	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1610C>T	2.37:g.231150512C>T	ENSP00000375899:p.Ala537Val		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.381932	0.01204	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.57752	0.54;0.75;0.65;0.38;0.64	1.58	0.336	0.15958	.	.	.	.	.	T	0.32585	0.0834	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.15719	0.009;0.003;0.014;0.0	B;B;B;B	0.10450	0.001;0.001;0.005;0.0	T	0.19257	-1.0311	9	0.20046	T	0.44	-1.5964	3.2177	0.06705	0.0:0.2801:0.0:0.7199	.	510;423;477;537	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	V	461;406;537;423;477;510	ENSP00000440107:A461V;ENSP00000345846:A406V;ENSP00000375899:A537V;ENSP00000342096:A477V;ENSP00000398210:A510V	ENSP00000342096:A477V	A	+	2	0	SP140	230858756	0.000000	0.05858	0.010000	0.14722	0.105000	0.19272	-1.820000	0.01714	0.093000	0.17368	0.306000	0.20318	GCG		0.448	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		T	231150512	C	T	231150512	3	4	498	1	0	0	0	0	1	0	0	0	14968	768	27	1	1793	1	SP140	2	231150512	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	29716109	231150512	12048861	16	26902											
JAGN1	84522	broad.mit.edu	37	3	9934835	9934835	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:9934835T>A	ENST00000307768.4	+	2	495	c.326T>A	c.(325-327)cTc>cAc	p.L109H		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					AGCATGGGACTCTTTTCCATC	0.517																																																0													177	132	147					3																	9934835		2203	4300	6503	SO:0001583	missense	84522			AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.326T>A	3.37:g.9934835T>A	ENSP00000306106:p.Leu109His			Missense_Mutation	SNP	ENST00000307768.4	37	CCDS2588.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628295	0.87560	.	.	ENSG00000171135	ENST00000307768;ENST00000543379	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86941	0.2079	9	0.87932	D	0	-19.5472	15.6723	0.77289	0.0:0.0:0.0:1.0	.	109	Q8N5M9	JAGN1_HUMAN	H	109	.	ENSP00000306106:L109H	L	+	2	0	JAGN1	9909835	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.998000	0.88491	2.187000	0.69744	0.402000	0.26972	CTC		0.517	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	NM_032492		A	9934835	T	A	9934835	3	1	498	1	0	0	0	0	1	0	0	0	7938	1551	54	5	332	5	JAGN1	3	9934835	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08		9934835	188087595	17	26903											
BAP1	8314	broad.mit.edu	37	3	52439196	52439196	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:52439196delT	ENST00000460680.1	-	11	1517	c.1046delA	c.(1045-1047)aacfs	p.N349fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.N331fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V335fs*10(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGGAGTGGGGTTGGGGTGAAC	0.592			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	skin(1)											101	109	106					3																	52439196		2203	4300	6503	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1046delA	3.37:g.52439196delT	ENSP00000417132:p.Asn349fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																				0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52439196	T	-	52439196	7	5	498	1	0	1	0	1	0	0	0	0	1311	1725	60	0	1171	0	BAP1	3	52439196	Frame_Shift_Del	DEL	T	TCGA-CJ-4869-01A-02D-1429-08	42504361	52439196	145583234	18	26904											
ZBTB11	27107	broad.mit.edu	37	3	101378845	101378846	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:101378845_101378846delCA	ENST00000312938.4	-	6	2407_2408	c.1827_1828delTG	c.(1825-1830)agtgccfs	p.A610fs	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	610					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGCAAAGAGGCACTGTACTGAA	0.361																																																0																																										SO:0001589	frameshift_variant	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1827_1828delTG	3.37:g.101378845_101378846delCA	ENSP00000326200:p.Ala610fs		Q2NKP9	Frame_Shift_Del	DEL	ENST00000312938.4	37	CCDS2943.1																																																																																				0.361	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		-	101378846	CA	-	101378845	7	5	498	1	0	1	0	1	0	0	0	0	17529	710	25	0	1357	0	ZBTB11	3	101378845	Frame_Shift_Del	DEL	CA	TCGA-CJ-4869-01A-02D-1429-08	48939649	101378845	96643585	19	26905											
GOLGB1	2804	broad.mit.edu	37	3	121415881	121415881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:121415881C>T	ENST00000340645.5	-	13	3599	c.3474G>A	c.(3472-3474)tgG>tgA	p.W1158*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.W1163*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1158					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTCTGGTTTCCAGTGTTCAC	0.433																																																0													128	124	125					3																	121415881		2203	4299	6502	SO:0001587	stop_gained	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3474G>A	3.37:g.121415881C>T	ENSP00000341848:p.Trp1158*		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.665750|5.665750	0.96745|0.96745	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	.|.	.|.	.|.	5.83|5.83	4.96|4.96	0.65561|0.65561	.|.	.|0.447945	.|0.21652	.|N	.|0.071167	T|.	0.56819|.	0.2011|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67499|.	-0.5655|.	3|.	.|0.41790	.|T	.|0.15	.|.	10.5587|10.5587	0.45133|0.45133	0.0:0.9125:0.0:0.0875|0.0:0.9125:0.0:0.0875	.|.	.|.	.|.	.|.	E|X	1029|1158;1163;1122;970	.|.	.|ENSP00000341848:W1158X	G|W	-|-	2|3	0|0	GOLGB1|GOLGB1	122898571|122898571	0.002000|0.002000	0.14202|0.14202	0.927000|0.927000	0.36925|0.36925	0.539000|0.539000	0.34962|0.34962	0.631000|0.631000	0.24568|0.24568	1.469000|1.469000	0.48083|0.48083	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.433	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		T	121415881	C	T	121415881	4	4	498	1	0	0	0	0	0	1	0	0	6567	856	30	2	6345	2	GOLGB1	3	121415881	Nonsense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	20037036	121415881	76606549	20	26906	204	2									
GOLGB1	2804	broad.mit.edu	37	3	121415891	121415891	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:121415891C>T	ENST00000340645.5	-	13	3589	c.3464G>A	c.(3463-3465)aGt>aAt	p.S1155N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S1160N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1155					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCAGTGTTCACTACTACCTGT	0.438																																																0													139	132	135					3																	121415891		2203	4299	6502	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3464G>A	3.37:g.121415891C>T	ENSP00000341848:p.Ser1155Asn		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.974|0.974	-0.699081|-0.699081	0.03279|0.03279	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.22743|.	2.52;2.52;1.94|.	5.9|5.9	1.99|1.99	0.26369|0.26369	.|.	0.312106|.	0.27664|.	N|.	0.018368|.	T|T	0.15089|0.15089	0.0364|0.0364	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.16802|.	0.0;0.0;0.019;0.0;0.0|.	B;B;B;B;B|.	0.20767|.	0.001;0.001;0.031;0.001;0.001|.	T|T	0.24368|0.24368	-1.0162|-1.0162	10|5	0.16896|.	T|.	0.51|.	.|.	3.1835|3.1835	0.06593|0.06593	0.1417:0.5678:0.1371:0.1534|0.1417:0.5678:0.1371:0.1534	.|.	1080;1119;1160;1160;1155|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	N|M	1155;1160;1119;967|1026	ENSP00000341848:S1155N;ENSP00000377275:S1160N;ENSP00000418231:S1119N|.	ENSP00000341848:S1155N|.	S|V	-|-	2|1	0|0	GOLGB1|GOLGB1	122898581|122898581	0.012000|0.012000	0.17670|0.17670	0.321000|0.321000	0.25320|0.25320	0.165000|0.165000	0.22458|0.22458	0.683000|0.683000	0.25349|0.25349	0.072000|0.072000	0.16694|0.16694	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		T	121415891	C	T	121415891	3	4	498	1	0	0	0	0	1	0	0	0	6567	565	20	2	6355	2	GOLGB1	3	121415891	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	10	121415891	76606539	21	26907	204	2									
KLHL24	54800	broad.mit.edu	37	3	183381405	183381407	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:183381405_183381407delTCT	ENST00000454652.2	+	5	1466_1468	c.1080_1082delTCT	c.(1078-1083)gctcta>gca	p.L361del	KLHL24_ENST00000476808.1_In_Frame_Del_p.L361del|KLHL24_ENST00000242810.6_In_Frame_Del_p.L361del	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	361						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CAGTCTGTGCTCTAAGGAATGAC	0.35																																																0																																										SO:0001651	inframe_deletion	54800				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1080_1082delTCT	3.37:g.183381405_183381407delTCT	ENSP00000395012:p.Leu361del		A5PLN8|Q9H620|Q9NXT9	In_Frame_Del	DEL	ENST00000454652.2	37	CCDS3246.1																																																																																				0.35	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		-	183381407	TCT	-	183381405	7	5	498	1	0	1	0	1	0	0	0	0	8381	1538	54	0	1086	0	KLHL24	3	183381405	In_Frame_Del	DEL	TCT	TCGA-CJ-4869-01A-02D-1429-08	61965514	183381405	14641025	22	26908											
PPBP	5473	broad.mit.edu	37	4	74853010	74853010	+	Silent	SNP	T	T	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr4:74853010T>C	ENST00000296028.3	-	3	459	c.366A>G	c.(364-366)gcA>gcG	p.A122A		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	122					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ATTCATCACCTGCCAATTTTT	0.408																																																0													107	110	109					4																	74853010		2203	4300	6503	SO:0001819	synonymous_variant	5473			M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"Endogenous ligands"	9240	protein-coding gene	gene with protein product	"platelet basic protein", "beta-thromboglobulin", "connective tissue-activating peptide III", "neutrophil-activating peptide-2"	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.366A>G	4.37:g.74853010T>C			B2R5F3|Q6IBJ8	Silent	SNP	ENST00000296028.3	37	CCDS3563.1																																																																																				0.408	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		C	74853010	T	C	74853010	2	2	498	1	0	0	0	0	0	0	0	1	12305	1567	55	3		3	PPBP	4	74853010	Silent	SNP	T	TCGA-CJ-4869-01A-02D-1429-08		74853010	116301266	23	26909											
CXXC4	80319	broad.mit.edu	37	4	105412438	105412439	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr4:105412438_105412439insTT	ENST00000426831.1	-	1	28_29	c.14_15insAA	c.(13-15)aacfs	p.N5fs	CXXC4_ENST00000394767.2_Frame_Shift_Ins_p.N174fs|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|AC093628.1_ENST00000606234.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	5					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TCTGGGAGTCGTTTCGGTGGTG	0.673																																																0																																										SO:0001589	frameshift_variant	80319				CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.13_14dupAA	4.37:g.105412439_105412440dupTT	ENSP00000412267:p.Asn5fs			Frame_Shift_Ins	INS	ENST00000426831.1	37																																																																																					0.673	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		TT	105412439	-	TT	105412438	7	5	498	1	0	1	1	0	0	0	0	0	4100	1136	40	0	589	0	CXXC4	4	105412438	Frame_Shift_Ins	INS	-	TCGA-CJ-4869-01A-02D-1429-08	30559428	105412438	85741838	24	26910											
FAT4	79633	broad.mit.edu	37	4	126242308	126242308	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr4:126242308G>T	ENST00000394329.3	+	1	4755	c.4742G>T	c.(4741-4743)aGt>aTt	p.S1581I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1581	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCGTTATAGTGGAGACCTG	0.458																																																0													142	144	143					4																	126242308		2046	4208	6254	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4742G>T	4.37:g.126242308G>T	ENSP00000377862:p.Ser1581Ile		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057219	0.55325	.	.	ENSG00000196159	ENST00000394329	T	0.54675	0.56	4.35	4.35	0.52113	Cadherin (4);Cadherin-like (1);	0.000000	0.40302	U	0.001133	T	0.79191	0.4404	M	0.92412	3.305	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.85355	0.1104	10	0.87932	D	0	.	17.4402	0.87562	0.0:0.0:1.0:0.0	.	1581	Q6V0I7	FAT4_HUMAN	I	1581	ENSP00000377862:S1581I	ENSP00000377862:S1581I	S	+	2	0	FAT4	126461758	1.000000	0.71417	0.697000	0.30258	0.621000	0.37620	7.510000	0.81708	2.420000	0.82092	0.655000	0.94253	AGT		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126242308	G	T	126242308	3	4	498	1	0	0	0	0	1	0	0	0	5694	1029	36	4	4744	4	FAT4	4	126242308	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	20829870	126242308	64911968	25	26911											
LRBA	987	broad.mit.edu	37	4	151656456	151656456	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr4:151656456A>T	ENST00000357115.3	-	36	5951	c.5708T>A	c.(5707-5709)cTg>cAg	p.L1903Q	LRBA_ENST00000507224.1_Missense_Mutation_p.L1903Q|LRBA_ENST00000510413.1_Missense_Mutation_p.L1903Q|LRBA_ENST00000535741.1_Missense_Mutation_p.L1903Q	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1903						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGCCTGCTCAGGATAAATTC	0.363																																																0													304	264	278					4																	151656456		2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5708T>A	4.37:g.151656456A>T	ENSP00000349629:p.Leu1903Gln		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.529754|4.529754	0.85706|0.85706	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.61742|.	0.08;0.08;0.08;0.08|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Domain of unknown function DUF1088 (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|.	0.77219|.	0.4098|.	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|.	0.79815|.	-0.1644|.	10|.	0.62326|.	D|.	0.03|.	.|.	14.7996|14.7996	0.69903|0.69903	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1903;1903|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	Q|R	1903|556	ENSP00000446299:L1903Q;ENSP00000421552:L1903Q;ENSP00000349629:L1903Q;ENSP00000422180:L1903Q|.	ENSP00000349629:L1903Q|.	L|X	-|-	2|1	0|0	LRBA|LRBA	151875906|151875906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.474000|8.474000	0.90413|0.90413	2.025000|2.025000	0.59659|0.59659	0.528000|0.528000	0.53228|0.53228	CTG|TGA		0.363	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			T	151656456	A	T	151656456	3	4	498	1	0	0	0	0	1	0	0	0	8933	188	7	5	2975	5	LRBA	4	151656456	Missense_Mutation	SNP	A	TCGA-CJ-4869-01A-02D-1429-08	25414148	151656456	39497820	26	26912											
BRD9	65980	broad.mit.edu	37	5	864655	864655	+	Silent	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr5:864655C>T	ENST00000467963.1	-	16	1888	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	BRD9_ENST00000483173.1_Silent_p.E521E|BRD9_ENST00000323510.4_Silent_p.E478E|BRD9_ENST00000388890.4_Silent_p.E458E	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	574					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CGTCTGGCTGCTCCCCGACAC	0.562																																																0													71	73	72					5																	864655		2203	4300	6503	SO:0001819	synonymous_variant	65980			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1722G>A	5.37:g.864655C>T			A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	CCDS34127.2																																																																																				0.562	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		T	864655	C	T	864655	2	4	498	1	0	0	0	0	0	0	0	1	1509	796	28	2		2	BRD9	5	864655	Silent	SNP	C	TCGA-CJ-4869-01A-02D-1429-08		864655	180050605	27	26913											
SLC6A19	340024	broad.mit.edu	37	5	1214127	1214129	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr5:1214127_1214129delCTT	ENST00000304460.10	+	6	890_892	c.834_836delCTT	c.(832-837)tccttc>tcc	p.F279del		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	279					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTTCTTCTCCTTCTCCCTGGCC	0.64																																																0																																										SO:0001651	inframe_deletion	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.834_836delCTT	5.37:g.1214127_1214129delCTT	ENSP00000305302:p.Phe279del		A8K446	In_Frame_Del	DEL	ENST00000304460.10	37	CCDS34130.1																																																																																				0.64	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		-	1214129	CTT	-	1214127	7	5	498	1	0	1	0	1	0	0	0	0	14688	668	24	0	856	0	SLC6A19	5	1214127	In_Frame_Del	DEL	CTT	TCGA-CJ-4869-01A-02D-1429-08	349472	1214127	179701133	28	26914											
MARCH11	441061	broad.mit.edu	37	5	16067810	16067810	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr5:16067810C>T	ENST00000332432.8	-	4	1178	c.979G>A	c.(979-981)Gcc>Acc	p.A327T		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	327					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ATGTCTGTGGCTTTGTCATAA	0.468																																																0													75	74	74					5																	16067810		1922	4135	6057	SO:0001583	missense	441061			BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.979G>A	5.37:g.16067810C>T	ENSP00000333181:p.Ala327Thr		A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238593	0.39598	.	.	ENSG00000183654	ENST00000332432	T	0.62498	0.02	5.44	5.44	0.79542	.	0.182791	0.46442	D	0.000294	T	0.42743	0.1216	N	0.10916	0.065	0.58432	D	0.999996	B	0.24823	0.112	B	0.24974	0.057	T	0.43048	-0.9415	10	0.02654	T	1	-27.7226	19.6252	0.95676	0.0:1.0:0.0:0.0	.	327	A6NNE9	MARHB_HUMAN	T	327	ENSP00000333181:A327T	ENSP00000333181:A327T	A	-	1	0	MARCH11	16120810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.786000	0.47790	2.697000	0.92050	0.655000	0.94253	GCC		0.468	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		T	16067810	C	T	16067810	3	4	498	1	0	0	0	0	1	0	0	0	9302	797	28	2	233	2	MARCH11	5	16067810	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	14853683	16067810	164847450	29	26915											
BDP1	55814	broad.mit.edu	37	5	70798507	70798507	+	Silent	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr5:70798507G>A	ENST00000358731.4	+	15	2393	c.2130G>A	c.(2128-2130)aaG>aaA	p.K710K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	710					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GATTGCAAAAGCCAAAGCCAA	0.403																																																0													91	84	86					5																	70798507		1840	4088	5928	SO:0001819	synonymous_variant	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2130G>A	5.37:g.70798507G>A			Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	CCDS43328.1																																																																																				0.403	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		A	70798507	G	A	70798507	2	1	498	1	0	0	0	0	0	0	0	1	1395	962	34	2		2	BDP1	5	70798507	Silent	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	54730697	70798507	110116753	30	26916											
HSPA4	3308	broad.mit.edu	37	5	132439651	132439651	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr5:132439651T>C	ENST00000304858.2	+	18	2541	c.2252T>C	c.(2251-2253)cTg>cCg	p.L751P		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	751					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.L751P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGCTAAATCTGCAGAACAAG	0.358																																					Colon(114;1299 1588 6063 12302 48757)											1	Substitution - Missense(1)	breast(1)											132	129	130					5																	132439651		2203	4300	6503	SO:0001583	missense	3308			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2252T>C	5.37:g.132439651T>C	ENSP00000302961:p.Leu751Pro		O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933448	0.73442	.	.	ENSG00000170606	ENST00000304858	T	0.01215	5.16	5.87	5.87	0.94306	.	0.060671	0.64402	D	0.000002	T	0.02267	0.0070	L	0.32530	0.975	0.80722	D	1	P	0.48911	0.917	P	0.49226	0.603	T	0.69709	-0.5072	10	0.44086	T	0.13	-9.891	16.2678	0.82600	0.0:0.0:0.0:1.0	.	751	P34932	HSP74_HUMAN	P	751	ENSP00000302961:L751P	ENSP00000302961:L751P	L	+	2	0	HSPA4	132467550	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.644000	0.61397	2.232000	0.73038	0.523000	0.50628	CTG		0.358	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		C	132439651	T	C	132439651	3	2	498	1	0	0	0	0	1	0	0	0	7414	1580	55	3	2322	3	HSPA4	5	132439651	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08	61641144	132439651	48475609	31	26917											
REV3L	5980	broad.mit.edu	37	6	111709251	111709251	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr6:111709251T>A	ENST00000358835.3	-	9	1354	c.900A>T	c.(898-900)aaA>aaT	p.K300N	REV3L_ENST00000368805.1_Missense_Mutation_p.K300N|REV3L_ENST00000435970.1_Missense_Mutation_p.K222N|REV3L_ENST00000368802.3_Missense_Mutation_p.K300N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	300					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTCTGAAATTTTTTTTCAC	0.284								DNA polymerases (catalytic subunits)																																								0													52	55	54					6																	111709251		2202	4297	6499	SO:0001583	missense	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.900A>T	6.37:g.111709251T>A	ENSP00000351697:p.Lys300Asn		O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	6.315	0.426150	0.11987	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.35	-4.39	0.03611	Ribonuclease H-like (1);	0.711693	0.13104	N	0.413534	T	0.03178	0.0093	N	0.08118	0	0.23478	N	0.997599	B	0.02656	0.0	B	0.01281	0.0	T	0.39292	-0.9621	10	0.26408	T	0.33	.	3.1761	0.06569	0.4939:0.0735:0.2743:0.1583	.	300	O60673	DPOLZ_HUMAN	N	300;300;300;222	ENSP00000357792:K300N;ENSP00000357795:K300N;ENSP00000351697:K300N;ENSP00000402003:K222N	ENSP00000351697:K300N	K	-	3	2	REV3L	111815944	0.802000	0.28943	0.987000	0.45799	0.074000	0.17049	-0.082000	0.11304	-0.290000	0.09025	-0.468000	0.05107	AAA		0.284	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		A	111709251	T	A	111709251	3	1	498	1	0	0	0	0	1	0	0	0	13246	1490	52	5	8592	5	REV3L	6	111709251	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08		111709251	59405816	32	26918											
ROS1	6098	broad.mit.edu	37	6	117704636	117704636	+	Missense_Mutation	SNP	G	G	T	rs201235239		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr6:117704636G>T	ENST00000368508.3	-	16	2538	c.2340C>A	c.(2338-2340)gaC>gaA	p.D780E	ROS1_ENST00000368507.3_Missense_Mutation_p.D775E|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	780					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGGTAACAATGTCTGTGTGTC	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													208	186	193					6																	117704636		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2340C>A	6.37:g.117704636G>T	ENSP00000357494:p.Asp780Glu		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891633	0.33442	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90444	-2.67;-2.67	4.57	-1.31	0.09230	.	0.000000	0.64402	D	0.000014	T	0.72486	0.3466	N	0.12182	0.205	0.80722	D	1	P	0.43094	0.799	P	0.47430	0.547	T	0.68637	-0.5356	10	0.37606	T	0.19	.	6.5761	0.22567	0.4397:0.0:0.4438:0.1165	.	780	P08922	ROS1_HUMAN	E	780;775	ENSP00000357494:D780E;ENSP00000357493:D775E	ENSP00000357493:D775E	D	-	3	2	ROS1	117811329	0.989000	0.36119	0.979000	0.43373	0.285000	0.27093	0.095000	0.15127	-0.443000	0.07180	-1.731000	0.00696	GAC		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			T	117704636	G	T	117704636	3	4	498	1	0	0	0	0	1	0	0	0	13537	1368	48	4	4815	4	ROS1	6	117704636	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	5995385	117704636	53410431	33	26919											
HERPUD2	64224	broad.mit.edu	37	7	35678029	35678029	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr7:35678029T>G	ENST00000396081.1	-	5	1352	c.548A>C	c.(547-549)tAt>tCt	p.Y183S	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.Y183S	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	183					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AAACGCGGGATACACTGGGAA	0.398																																																0													79	73	75					7																	35678029		2203	4300	6503	SO:0001583	missense	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.548A>C	7.37:g.35678029T>G	ENSP00000379390:p.Tyr183Ser		A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089466	0.76756	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517	T;T;T;T	0.39592	2.89;2.89;1.07;1.24	5.04	5.04	0.67666	.	0.175969	0.49916	D	0.000122	T	0.45276	0.1334	L	0.52905	1.665	0.48087	D	0.999584	D	0.54047	0.964	P	0.46629	0.522	T	0.42999	-0.9418	10	0.41790	T	0.15	-24.2418	15.057	0.71921	0.0:0.0:0.0:1.0	.	183	Q9BSE4	HERP2_HUMAN	S	183;183;119;157	ENSP00000379390:Y183S;ENSP00000310729:Y183S;ENSP00000415475:Y119S;ENSP00000391015:Y157S	ENSP00000310729:Y183S	Y	-	2	0	HERPUD2	35644554	1.000000	0.71417	0.045000	0.18777	0.008000	0.06430	7.757000	0.85209	2.008000	0.58898	0.533000	0.62120	TAT		0.398	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		G	35678029	T	G	35678029	3	3	498	1	0	0	0	0	1	0	0	0	7066	1406	49	5	688	5	HERPUD2	7	35678029	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08		35678029	123460634	34	26920											
VWC2	375567	broad.mit.edu	37	7	49842426	49842426	+	Silent	SNP	C	C	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr7:49842426C>A	ENST00000340652.4	+	3	1372	c.816C>A	c.(814-816)atC>atA	p.I272I		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	272	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GCTGTCCCATCTGCAAAAATG	0.572																																																0													234	153	181					7																	49842426		2203	4300	6503	SO:0001819	synonymous_variant	375567			AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"brorin", "brain-specific chordin-like"	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.816C>A	7.37:g.49842426C>A			Q6UXE2	Silent	SNP	ENST00000340652.4	37	CCDS5508.1																																																																																				0.572	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		A	49842426	C	A	49842426	2	1	498	1	0	0	0	0	0	0	0	1	17248	903	32	4		4	VWC2	7	49842426	Silent	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	14164397	49842426	109296237	35	26921											
SAMD9	54809	broad.mit.edu	37	7	92732890	92732890	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr7:92732890G>T	ENST00000379958.2	-	3	2790	c.2521C>A	c.(2521-2523)Cct>Act	p.P841T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	841						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTTTTCAGGATTTTGTGAT	0.358																																																0													62	62	62					7																	92732890		2202	4298	6500	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2521C>A	7.37:g.92732890G>T	ENSP00000369292:p.Pro841Thr		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666288	0.47677	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.80909	-1.43;-1.43	4.59	4.59	0.56863	.	0.265738	0.30809	N	0.008833	D	0.86657	0.5985	M	0.66506	2.035	0.33757	D	0.621352	D	0.64830	0.994	P	0.59115	0.852	D	0.91494	0.5214	10	0.87932	D	0	-5.4179	16.0928	0.81102	0.0:0.0:1.0:0.0	.	841	Q5K651	SAMD9_HUMAN	T	841	ENSP00000369292:P841T;ENSP00000414529:P841T	ENSP00000369292:P841T	P	-	1	0	SAMD9	92570826	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	6.146000	0.71777	2.384000	0.81235	0.609000	0.83330	CCT		0.358	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		T	92732890	G	T	92732890	3	4	498	1	0	0	0	0	1	0	0	0	13832	1174	41	4	2252	4	SAMD9	7	92732890	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	42890464	92732890	66405773	36	26922											
KLHDC10	23008	broad.mit.edu	37	7	129769357	129769357	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr7:129769357G>C	ENST00000335420.5	+	9	1194	c.1060G>C	c.(1060-1062)Gtg>Ctg	p.V354L		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	354						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TTTCCAATGGGTGAAGCTCCC	0.403																																																0													140	131	134					7																	129769357		2203	4300	6503	SO:0001583	missense	23008				CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"scruin like at the midline homolog (Drosophila)"	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.1060G>C	7.37:g.129769357G>C	ENSP00000334140:p.Val354Leu		Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345989	0.24426	.	.	ENSG00000128607	ENST00000335420	T	0.63417	-0.04	5.87	4.95	0.65309	Galactose oxidase, beta-propeller (1);	0.492022	0.24779	N	0.035672	T	0.41994	0.1183	N	0.19112	0.55	0.42906	D	0.994244	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.0;0.001;0.005	T	0.26710	-1.0095	10	0.11485	T	0.65	-13.3745	9.5712	0.39429	0.073:0.0:0.7846:0.1424	.	203;211;354	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	L	354	ENSP00000334140:V354L	ENSP00000334140:V354L	V	+	1	0	KLHDC10	129556593	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.692000	0.61746	2.941000	0.99782	0.655000	0.94253	GTG		0.403	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			C	129769357	G	C	129769357	3	2	498	1	0	0	0	0	1	0	0	0	8357	1261	44	4	1094	4	KLHDC10	7	129769357	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	37036467	129769357	29369306	37	26923											
GPR124	25960	broad.mit.edu	37	8	37699044	37699044	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr8:37699044T>A	ENST00000412232.2	+	19	3201	c.3188T>A	c.(3187-3189)cTc>cAc	p.L1063H	GPR124_ENST00000315215.7_Missense_Mutation_p.L846H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1063					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCCTGGGCCTCTTCGTCTTC	0.731																																																0													20	24	23					8																	37699044		2202	4297	6499	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.3188T>A	8.37:g.37699044T>A	ENSP00000406367:p.Leu1063His		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401698	0.42613	.	.	ENSG00000020181	ENST00000315215;ENST00000412232	T;T	0.59364	0.27;0.27	5.01	5.01	0.66863	GPCR, family 2, secretin-like, conserved site (1);	0.145337	0.47455	D	0.000236	T	0.73442	0.3587	M	0.68317	2.08	0.46185	D	0.998918	D;D	0.89917	1.0;1.0	D;D	0.73380	0.964;0.98	T	0.77133	-0.2700	10	0.87932	D	0	-27.1135	14.7311	0.69383	0.0:0.0:0.0:1.0	.	846;1063	Q96PE1-2;Q96PE1	.;GP124_HUMAN	H	846;1063	ENSP00000323508:L846H;ENSP00000406367:L1063H	ENSP00000323508:L846H	L	+	2	0	GPR124	37818202	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	2.652000	0.46682	1.882000	0.54519	0.528000	0.53228	CTC		0.731	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			A	37699044	T	A	37699044	3	1	498	1	0	0	0	0	1	0	0	0	6640	1551	54	5	3241	5	GPR124	8	37699044	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08		37699044	108664978	38	26924											
SULF1	23213	broad.mit.edu	37	8	70501331	70501331	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr8:70501331C>T	ENST00000260128.4	+	8	1406	c.689C>T	c.(688-690)tCa>tTa	p.S230L	SULF1_ENST00000402687.4_Missense_Mutation_p.S230L|SULF1_ENST00000458141.2_Missense_Mutation_p.S230L|SULF1_ENST00000419716.3_Missense_Mutation_p.S230L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	230					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CCCGAGGACTCAGCCCCACAG	0.493																																																0													69	61	64					8																	70501331		2203	4300	6503	SO:0001583	missense	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.689C>T	8.37:g.70501331C>T	ENSP00000260128:p.Ser230Leu		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165418	0.94768	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99	5.54	5.54	0.83059	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97046	0.9035	L	0.54908	1.71	0.80722	D	1	B	0.20550	0.046	B	0.18561	0.022	D	0.94278	0.7517	10	0.72032	D	0.01	.	19.8424	0.96695	0.0:1.0:0.0:0.0	.	230	Q8IWU6	SULF1_HUMAN	L	230	ENSP00000403040:S230L;ENSP00000260128:S230L;ENSP00000385704:S230L;ENSP00000390315:S230L	ENSP00000260128:S230L	S	+	2	0	SULF1	70663885	1.000000	0.71417	0.966000	0.40874	0.882000	0.50991	7.768000	0.85345	2.764000	0.94973	0.655000	0.94253	TCA		0.493	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		T	70501331	C	T	70501331	3	4	498	1	0	0	0	0	1	0	0	0	15375	838	29	2	703	2	SULF1	8	70501331	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	32802287	70501331	75862691	39	26925											
SLC10A5	347051	broad.mit.edu	37	8	82606469	82606469	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr8:82606469G>C	ENST00000518568.1	-	1	1940	c.739C>G	c.(739-741)Ctg>Gtg	p.L247V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	247						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.L247L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ATCATGATCAGAGCCAATAAT	0.418																																																1	Substitution - coding silent(1)	large_intestine(1)											82	84	83					8																	82606469		2203	4300	6503	SO:0001583	missense	347051				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.739C>G	8.37:g.82606469G>C	ENSP00000428612:p.Leu247Val		B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	G	1.914	-0.449898	0.04572	.	.	ENSG00000253598	ENST00000518568	T	0.11604	2.76	6.01	3.24	0.37175	.	0.000000	0.42964	D	0.000639	T	0.14356	0.0347	L	0.53249	1.67	0.30889	N	0.730502	P	0.42296	0.775	P	0.50825	0.651	T	0.03068	-1.1076	10	0.06365	T	0.9	-9.1318	8.7694	0.34722	0.1889:0.1133:0.6978:0.0	.	247	Q5PT55	NTCP5_HUMAN	V	247	ENSP00000428612:L247V	ENSP00000428612:L247V	L	-	1	2	SLC10A5	82769024	0.719000	0.27986	0.982000	0.44146	0.002000	0.02628	0.825000	0.27393	0.453000	0.26858	-1.975000	0.00460	CTG		0.418	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		C	82606469	G	C	82606469	3	2	498	1	0	0	0	0	1	0	0	0	14383	933	33	4	579	4	SLC10A5	8	82606469	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	12105138	82606469	63757553	40	26926											
COL14A1	7373	broad.mit.edu	37	8	121228653	121228653	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr8:121228653C>A	ENST00000297848.3	+	14	1931	c.1661C>A	c.(1660-1662)aCc>aAc	p.T554N	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T554N|COL14A1_ENST00000247781.3_Missense_Mutation_p.T459N	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCTCGATTAACCTGGGACCCA	0.383																																																0													121	111	114					8																	121228653		2203	4300	6503	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1661C>A	8.37:g.121228653C>A	ENSP00000297848:p.Thr554Asn			Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.791|2.791	-0.251383|-0.251383	0.05867|0.05867	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T	.|0.57752	.|0.38;0.38;0.38;0.38	5.29|5.29	2.48|2.48	0.30137|0.30137	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.509432	.|0.22159	.|N	.|0.063809	T|T	0.48857|0.48857	0.1523|0.1523	L|L	0.53671|0.53671	1.685|1.685	0.31129|0.31129	N|N	0.707915|0.707915	.|B;B	.|0.27910	.|0.032;0.193	.|B;B	.|0.27608	.|0.014;0.081	T|T	0.50346|0.50346	-0.8839|-0.8839	5|10	.|0.31617	.|T	.|0.26	.|.	16.7441|16.7441	0.85467|0.85467	0.0:0.646:0.354:0.0|0.0:0.646:0.354:0.0	.|.	.|554;554	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	K|N	310|554;554;459;367	.|ENSP00000311809:T554N;ENSP00000297848:T554N;ENSP00000247781:T459N;ENSP00000409461:T367N	.|ENSP00000247781:T459N	N|T	+|+	3|2	2|0	COL14A1|COL14A1	121297834|121297834	0.999000|0.999000	0.42202|0.42202	0.250000|0.250000	0.24296|0.24296	0.138000|0.138000	0.21146|0.21146	1.805000|1.805000	0.38883|0.38883	0.363000|0.363000	0.24346|0.24346	-0.176000|-0.176000	0.13171|0.13171	AAC|ACC		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		A	121228653	C	A	121228653	3	1	498	1	0	0	0	0	1	0	0	0	3673	507	18	4	1711	4	COL14A1	8	121228653	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	38622184	121228653	25135369	41	26927											
TRPM6	140803	broad.mit.edu	37	9	77377717	77377717	+	Silent	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr9:77377717C>T	ENST00000360774.1	-	26	4107	c.3870G>A	c.(3868-3870)cgG>cgA	p.R1290R	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.R1285R|TRPM6_ENST00000449912.2_Silent_p.R1285R|TRPM6_ENST00000451710.3_Silent_p.R1290R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.R1290R	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1290					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGGGGGATGCCGGCCTCCAG	0.488																																																0													108	118	114					9																	77377717		2203	4300	6503	SO:0001819	synonymous_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3870G>A	9.37:g.77377717C>T			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																				0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		T	77377717	C	T	77377717	2	4	498	1	0	0	0	0	0	0	0	1	16595	726	26	2		2	TRPM6	9	77377717	Silent	SNP	C	TCGA-CJ-4869-01A-02D-1429-08		77377717	63835714	42	26928											
FAM120AOS	158293	broad.mit.edu	37	9	96212845	96212845	+	Silent	SNP	A	A	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr9:96212845A>G	ENST00000375412.5	-	2	1482	c.600T>C	c.(598-600)gcT>gcC	p.A200A	FAM120AOS_ENST00000423591.1_Silent_p.A18A|FAM120A_ENST00000375389.3_5'Flank|FAM120A_ENST00000277165.6_5'Flank|FAM120A_ENST00000333936.5_5'Flank|FAM120AOS_ENST00000479094.1_5'UTR|FAM120A_ENST00000340893.4_5'Flank	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	200										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						GTCCGGCCACAGCCTGTCGGT	0.502																																																0													52	57	56					9																	96212845		2203	4300	6503	SO:0001819	synonymous_variant	158293			AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 10 opposite strand"	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.600T>C	9.37:g.96212845A>G			A6NN20	Silent	SNP	ENST00000375412.5	37	CCDS6705.1																																																																																				0.502	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1			G	96212845	A	G	96212845	2	3	498	1	0	0	0	0	0	0	0	1	5418	175	7	3		3	FAM120AOS	9	96212845	Silent	SNP	A	TCGA-CJ-4869-01A-02D-1429-08	18835128	96212845	45000586	43	26929											
TBC1D2	55357	broad.mit.edu	37	9	101017592	101017592	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr9:101017592G>T	ENST00000342112.5	-	0	280				TBC1D2_ENST00000375064.1_Missense_Mutation_p.L78M|TBC1D2_ENST00000375066.5_Missense_Mutation_p.L78M			Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2						positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GAGTAATACAGCTGACATTTC	0.547																																																0													83	85	84					9																	101017592		2203	4300	6503			55357			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000342112.5:c.-281C>A	9.37:g.101017592G>T			B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Translation_Start_Site	SNP	ENST00000342112.5	37		.	.	.	.	.	.	.	.	.	.	G	16.78	3.218438	0.58560	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.78003	-1.14;-1.14	5.66	4.66	0.58398	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000007	D	0.89245	0.6660	H	0.94183	3.505	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.89725	0.3922	10	0.72032	D	0.01	.	6.4871	0.22095	0.1492:0.0:0.8508:0.0	.	78;78	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	M	78	ENSP00000364205:L78M;ENSP00000364207:L78M	ENSP00000364205:L78M	L	-	1	2	TBC1D2	100057413	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	2.177000	0.42509	2.665000	0.90641	0.561000	0.74099	CTG		0.547	TBC1D2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000053368.1	NM_018421		T	101017592	G	T	101017592	1	4	498	1	0	1	0	0	0	0	0	0	15613	962	34	4		4	TBC1D2	9	101017592	De_novo_Start_OutOfFrame	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	4804747	101017592	40195839	44	26930											
RGS3	5998	broad.mit.edu	37	9	116356444	116356444	+	Intron	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr9:116356444C>T	ENST00000374140.2	+	23	3289				RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462403.1_Missense_Mutation_p.A82V|RGS3_ENST00000462143.1_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCGTGTGTGGCTGCAGCCTGC	0.667																																																0													51	57	55					9																	116356444		2203	4299	6502	SO:0001627	intron_variant	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-266C>T	9.37:g.116356444C>T			A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815961	0.50527	.	.	ENSG00000138835	ENST00000462403	T	0.60920	0.15	5.08	4.12	0.48240	.	.	.	.	.	T	0.37183	0.0994	N	0.08118	0	0.19945	N	0.999949	B	0.30793	0.295	B	0.24701	0.055	T	0.32534	-0.9903	9	0.66056	D	0.02	.	12.3715	0.55258	0.0:0.8139:0.1861:0.0	.	82	Q5VZ06	.	V	82	ENSP00000436168:A82V	ENSP00000436168:A82V	A	+	2	0	RGS3	115396265	0.000000	0.05858	0.009000	0.14445	0.545000	0.35147	0.374000	0.20501	2.355000	0.79922	0.558000	0.71614	GCT		0.667	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		T	116356444	C	T	116356444	1	4	498	0	1	0	0	0	0	0	0	0	13312	797	28	2		2	RGS3	9	116356444	Intron	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	15338852	116356444	24856987	45	26931											
TNC	3371	broad.mit.edu	37	9	117852928	117852928	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr9:117852928T>A	ENST00000350763.4	-	2	781	c.370A>T	c.(370-372)Agc>Tgc	p.S124C	TNC_ENST00000341037.4_Missense_Mutation_p.S124C|TNC_ENST00000346706.3_Missense_Mutation_p.S124C|TNC_ENST00000535648.1_Missense_Mutation_p.S124C|TNC_ENST00000542877.1_Missense_Mutation_p.S124C|TNC_ENST00000340094.3_Missense_Mutation_p.S124C|TNC_ENST00000423613.2_Missense_Mutation_p.S124C|TNC_ENST00000345230.3_Missense_Mutation_p.S124C|TNC_ENST00000537320.1_Missense_Mutation_p.S124C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	124					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCAGTCTGCTCAGCAGCTCC	0.592																																																0													139	150	146					9																	117852928		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.370A>T	9.37:g.117852928T>A	ENSP00000265131:p.Ser124Cys		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.973541	0.92919	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.94	5.94	0.96194	.	0.244211	0.53938	D	0.000056	T	0.58278	0.2111	M	0.65975	2.015	0.51767	D	0.999937	D;D	0.76494	0.999;0.999	D;D	0.68353	0.957;0.95	T	0.60782	-0.7195	10	0.66056	D	0.02	.	15.5674	0.76303	0.0:0.0:0.0:1.0	.	124;124	E9PC84;P24821	.;TENA_HUMAN	C	124	ENSP00000344400:S124C;ENSP00000438152:S124C;ENSP00000344555:S124C;ENSP00000345861:S124C;ENSP00000265131:S124C;ENSP00000339553:S124C;ENSP00000411406:S124C;ENSP00000443478:S124C;ENSP00000442242:S124C	ENSP00000344400:S124C	S	-	1	0	TNC	116892749	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	6.152000	0.71812	2.261000	0.74972	0.533000	0.62120	AGC		0.592	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		A	117852928	T	A	117852928	3	1	498	1	0	0	0	0	1	0	0	0	16275	1551	54	5	6343	5	TNC	9	117852928	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08	1496484	117852928	23360503	46	26932											
VIM	7431	broad.mit.edu	37	10	17277297	17277297	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr10:17277297C>T	ENST00000224237.5	+	6	1283	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.L380F			P08670	VIME_HUMAN	vimentin	380	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCTCGTCACCTTCGTGAATA	0.493																																																0													145	128	134					10																	17277297		2203	4300	6503	SO:0001583	missense	7431			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1138C>T	10.37:g.17277297C>T	ENSP00000224237:p.Leu380Phe		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840451	0.91197	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.90563	-2.69;-2.69	5.87	5.87	0.94306	Filament (1);	0.000000	0.41500	U	0.000879	D	0.97093	0.9050	H	0.97829	4.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97827	1.0260	10	0.87932	D	0	.	13.4671	0.61260	0.0:0.9288:0.0:0.0712	.	380;367;380;380	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	F	380;380;367	ENSP00000446007:L380F;ENSP00000224237:L380F	ENSP00000224237:L380F	L	+	1	0	VIM	17317303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.084000	0.71335	2.784000	0.95788	0.638000	0.83543	CTT		0.493	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		T	17277297	C	T	17277297	3	4	498	1	0	0	0	0	1	0	0	0	17171	681	24	2	1160	2	VIM	10	17277297	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08		17277297	118257450	47	26933											
ANK3	288	broad.mit.edu	37	10	61874052	61874052	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr10:61874052A>G	ENST00000280772.2	-	26	3070	c.2879T>C	c.(2878-2880)cTt>cCt	p.L960P	ANK3_ENST00000503366.1_Missense_Mutation_p.L961P|ANK3_ENST00000373827.2_Missense_Mutation_p.L954P|ANK3_ENST00000355288.2_Missense_Mutation_p.L94P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	960					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTAATGTCTAAGAGAATCTGA	0.348																																																0													83	78	80					10																	61874052		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2879T>C	10.37:g.61874052A>G	ENSP00000280772:p.Leu960Pro		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.147326	0.57151	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815;ENST00000513049	T;T;T;T;T	0.68025	-0.25;-0.29;0.4;-0.3;0.83	5.48	5.48	0.80851	.	0.000000	0.35179	N	0.003385	T	0.79287	0.4420	M	0.72118	2.19	0.80722	D	1	P;D;P;P;D;D;D	0.71674	0.577;0.991;0.814;0.904;0.998;0.993;0.995	B;P;B;P;P;P;P	0.62014	0.141;0.83;0.265;0.514;0.897;0.863;0.795	T	0.81949	-0.0699	10	0.72032	D	0.01	.	15.5697	0.76323	1.0:0.0:0.0:0.0	.	961;94;482;954;960;195;94	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	P	960;954;94;94;961;940;195;595;595;93;482;85;85	ENSP00000280772:L960P;ENSP00000362933:L954P;ENSP00000347436:L94P;ENSP00000425236:L961P;ENSP00000362921:L85P	ENSP00000280772:L960P	L	-	2	0	ANK3	61544058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.923000	0.92808	2.071000	0.62044	0.533000	0.62120	CTT		0.348	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		G	61874052	A	G	61874052	3	3	498	1	0	0	0	0	1	0	0	0	622	72	3	3	10639	3	ANK3	10	61874052	Missense_Mutation	SNP	A	TCGA-CJ-4869-01A-02D-1429-08	44596755	61874052	73660695	48	26934											
TDRD1	56165	broad.mit.edu	37	10	115973103	115973103	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr10:115973103A>T	ENST00000369280.1	+	15	2291		c.e15-1		TDRD1_ENST00000369282.1_Splice_Site|TDRD1_ENST00000422662.1_Splice_Site|TDRD1_ENST00000251864.2_Splice_Site|TDRD1_ENST00000369281.2_Splice_Site			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1						DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATTCTTTGTTAGGAGTAAAGC	0.333																																																0													50	51	51					10																	115973103		2202	4300	6502	SO:0001630	splice_region_variant	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1832-1A>T	10.37:g.115973103A>T			A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Splice_Site	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	A	18.27	3.587658	0.66105	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6573	0.68844	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDRD1	115963093	1.000000	0.71417	0.926000	0.36857	0.749000	0.42624	7.100000	0.76989	2.187000	0.69744	0.523000	0.50628	.		0.333	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		Intron	T	115973103	A	T	115973103	5	4	498	1	0	0	0	0	0	0	1	0	15735	434	15	5	1884	5	TDRD1	10	115973103	Splice_Site	SNP	A	TCGA-CJ-4869-01A-02D-1429-08	54099051	115973103	19561644	49	26935											
MUC2	4583	broad.mit.edu	37	11	1080916	1080916	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:1080916C>T	ENST00000441003.2	+	10	1327	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	MUC2_ENST00000359061.5_Missense_Mutation_p.P434S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	434	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGAGCTGGCCCCCTGTGGCTC	0.637																																																0													63	71	68					11																	1080916		2089	4206	6295	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1300C>T	11.37:g.1080916C>T	ENSP00000415183:p.Pro434Ser		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	10.08	1.251877	0.22880	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.58506	0.33;0.33	3.57	0.294	0.15747	.	1.618190	0.05608	N	0.577606	T	0.60971	0.2310	M	0.73319	2.225	0.22954	N	0.99852	B	0.33549	0.417	B	0.42062	0.374	T	0.50947	-0.8767	10	0.24483	T	0.36	.	8.0586	0.30619	0.0:0.611:0.3019:0.0871	.	434	E7EUV1	.	S	434	ENSP00000415183:P434S;ENSP00000351956:P434S	ENSP00000351956:P434S	P	+	1	0	MUC2	1070916	0.000000	0.05858	0.995000	0.50966	0.223000	0.24884	0.319000	0.19522	0.223000	0.20920	0.436000	0.28706	CCC		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1080916	C	T	1080916	3	4	498	1	0	0	0	0	1	0	0	0	9977	623	22	2	1338	2	MUC2	11	1080916	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08		1080916	133925600	50	26936											
C11orf16	56673	broad.mit.edu	37	11	8948531	8948531	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:8948531G>T	ENST00000326053.5	-	4	621	c.515C>A	c.(514-516)cCt>cAt	p.P172H	C11orf16_ENST00000528998.1_5'Flank|C11orf16_ENST00000525780.1_Missense_Mutation_p.P172H	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	172										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AACAGTGCCAGGGCCATACTG	0.547																																																0													87	80	82					11																	8948531		2201	4296	6497	SO:0001583	missense	56673			AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.515C>A	11.37:g.8948531G>T	ENSP00000318999:p.Pro172His		Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990133	0.54041	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.60424	0.19;0.19	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000011	T	0.76205	0.3955	M	0.72894	2.215	0.42333	D	0.992309	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78513	-0.2175	10	0.87932	D	0	-4.9337	17.8376	0.88704	0.0:0.0:1.0:0.0	.	172;172	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	H	172	ENSP00000436818:P172H;ENSP00000318999:P172H	ENSP00000318999:P172H	P	-	2	0	C11orf16	8905107	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	6.755000	0.74914	2.643000	0.89663	0.591000	0.81541	CCT		0.547	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		T	8948531	G	T	8948531	3	4	498	1	0	0	0	0	1	0	0	0	1633	1000	35	4	900	4	C11orf16	11	8948531	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	7867615	8948531	126057985	51	26937											
ABCC8	6833	broad.mit.edu	37	11	17474797	17474797	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:17474797delG	ENST00000389817.3	-	7	1113	c.1045delC	c.(1045-1047)caafs	p.Q349fs	ABCC8_ENST00000302539.4_Frame_Shift_Del_p.Q349fs			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	349	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGGAACTCTTGGGATGAGACA	0.468																																																0													141	129	133					11																	17474797		2200	4293	6493	SO:0001589	frameshift_variant	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1045delC	11.37:g.17474797delG	ENSP00000374467:p.Gln349fs		A6NMX8|E3UYX6|O75948|Q16583	Frame_Shift_Del	DEL	ENST00000389817.3	37	CCDS31437.1																																																																																				0.468	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		-	17474797	G	-	17474797	7	5	498	1	0	1	0	1	0	0	0	0	58	1357	47	0	3832	0	ABCC8	11	17474797	Frame_Shift_Del	DEL	G	TCGA-CJ-4869-01A-02D-1429-08	8526266	17474797	117531719	52	26938											
SLC5A12	159963	broad.mit.edu	37	11	26734236	26734236	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:26734236G>C	ENST00000396005.3	-	2	666	c.357C>G	c.(355-357)ttC>ttG	p.F119L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.F119L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	119					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CTGGTTTGTTGAATCGTAGTT	0.408																																																0													304	260	275					11																	26734236		2203	4299	6502	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.357C>G	11.37:g.26734236G>C	ENSP00000379326:p.Phe119Leu		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714105	0.68730	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.91631	-2.88;-2.88	5.13	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.96037	0.8709	H	0.97896	4.1	0.53005	D	0.999961	B;D	0.54207	0.349;0.965	B;P	0.57371	0.331;0.819	D	0.95115	0.8241	10	0.59425	D	0.04	.	3.7551	0.08582	0.3547:0.0:0.6453:0.0	.	119;119	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	L	119	ENSP00000379326:F119L;ENSP00000280467:F119L	ENSP00000280467:F119L	F	-	3	2	SLC5A12	26690812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.623000	0.67757	2.522000	0.85027	0.655000	0.94253	TTC		0.408	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		C	26734236	G	C	26734236	3	2	498	1	0	0	0	0	1	0	0	0	14670	1281	45	4	1555	4	SLC5A12	11	26734236	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	9259439	26734236	108272280	53	26939											
PGR	5241	broad.mit.edu	37	11	100909954	100909954	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:100909954G>A	ENST00000325455.5	-	8	4148	c.2695C>T	c.(2695-2697)Cgg>Tgg	p.R899W	PGR_ENST00000534013.1_Missense_Mutation_p.R305W|PGR_ENST00000263463.5_Missense_Mutation_p.R797W	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	899	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTCAGTGCCCGGGACTGGATA	0.358																																					Pancreas(124;2271 2354 21954 22882)											0													89	88	89					11																	100909954		2203	4299	6502	SO:0001583	missense	5241			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2695C>T	11.37:g.100909954G>A	ENSP00000325120:p.Arg899Trp		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868455	0.51588	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	T;T;D	0.99766	1.27;1.27;-6.69	5.74	4.83	0.62350	Nuclear hormone receptor, ligand-binding (2);	0.200260	0.43416	N	0.000578	D	0.97739	0.9258	N	0.10874	0.06	0.41505	D	0.988303	P;B;B	0.42908	0.793;0.333;0.062	B;B;B	0.25506	0.061;0.031;0.01	D	0.98567	1.0644	10	0.87932	D	0	.	14.7908	0.69841	0.0691:0.0:0.9309:0.0	.	797;899;280	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	W	899;305;797	ENSP00000325120:R899W;ENSP00000436561:R305W;ENSP00000263463:R797W	ENSP00000263463:R797W	R	-	1	2	PGR	100415164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.646000	0.67916	1.435000	0.47434	0.585000	0.79938	CGG		0.358	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			A	100909954	G	A	100909954	3	1	498	1	0	0	0	0	1	0	0	0	11807	1115	39	1	110	1	PGR	11	100909954	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	74175718	100909954	34096562	54	26940											
BCL9L	283149	broad.mit.edu	37	11	118769210	118769210	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:118769210G>A	ENST00000334801.3	-	8	5378	c.4414C>T	c.(4414-4416)Cac>Tac	p.H1472Y	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1472					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CGAAGGGGGTGGGACACCATG	0.706																																																0													21	24	23					11																	118769210		2199	4294	6493	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.4414C>T	11.37:g.118769210G>A	ENSP00000335320:p.His1472Tyr		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151863	0.78001	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000431085	T	0.65364	-0.15	3.98	3.98	0.46160	.	0.000000	0.41500	U	0.000874	T	0.68035	0.2957	L	0.47716	1.5	0.58432	D	0.999999	D;D	0.56968	0.978;0.963	P;P	0.55713	0.782;0.546	T	0.70741	-0.4789	10	0.46703	T	0.11	-18.323	16.4076	0.83691	0.0:0.0:1.0:0.0	.	1467;1472	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	Y	1472;1435;718;1427	ENSP00000335320:H1472Y	ENSP00000335320:H1472Y	H	-	1	0	BCL9L	118274420	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.158000	0.94723	1.909000	0.55274	0.305000	0.20034	CAC		0.706	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		A	118769210	G	A	118769210	3	1	498	1	0	0	0	0	1	0	0	0	1382	1348	47	2	89	2	BCL9L	11	118769210	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	17859256	118769210	16237306	55	26941											
CACNA1C	775	broad.mit.edu	37	12	2706417	2706417	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:2706417delG	ENST00000347598.4	+	21	2815	c.2815delG	c.(2815-2817)gttfs	p.V939fs	CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000406454.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399655.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.V964fs|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399634.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399617.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399603.1_Frame_Shift_Del_p.V939fs	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	939					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTTGATATTGTTTTTACCAC	0.493																																																0													182	185	184					12																	2706417		1873	4103	5976	SO:0001589	frameshift_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2815delG	12.37:g.2706417delG	ENSP00000266376:p.Val939fs		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Frame_Shift_Del	DEL	ENST00000347598.4	37	CCDS44788.1																																																																																				0.493	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		-	2706417	G	-	2706417	7	5	498	1	0	1	0	1	0	0	0	0	2542	1377	48	0	3005	0	CACNA1C	12	2706417	Frame_Shift_Del	DEL	G	TCGA-CJ-4869-01A-02D-1429-08		2706417	131145478	56	26942											
LRMP	4033	broad.mit.edu	37	12	25232608	25232608	+	Missense_Mutation	SNP	T	T	A	rs147316104	byFrequency	TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:25232608T>A	ENST00000354454.3	+	8	984	c.155T>A	c.(154-156)cTg>cAg	p.L52Q	LRMP_ENST00000548766.1_Missense_Mutation_p.L52Q|LRMP_ENST00000547044.1_Missense_Mutation_p.L52Q	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	108					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTAGAAATTCTGAATATGGCT	0.378																																																0													111	111	111					12																	25232608		2203	4300	6503	SO:0001583	missense	4033				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.155T>A	12.37:g.25232608T>A	ENSP00000346442:p.Leu52Gln		A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408277	0.42715	.	.	ENSG00000118308	ENST00000550945;ENST00000557489;ENST00000354454;ENST00000548766;ENST00000554942;ENST00000547044	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	4.61	4.61	0.57282	.	0.184560	0.26780	N	0.022530	T	0.49236	0.1545	M	0.63428	1.95	0.35842	D	0.826135	D	0.69078	0.997	D	0.71184	0.972	T	0.61579	-0.7034	10	0.87932	D	0	-6.0553	10.5719	0.45204	0.0:0.0:0.0:1.0	.	108	Q12912	LRMP_HUMAN	Q	52	ENSP00000448534:L52Q;ENSP00000452116:L52Q;ENSP00000346442:L52Q;ENSP00000446496:L52Q;ENSP00000450634:L52Q;ENSP00000450246:L52Q	ENSP00000346442:L52Q	L	+	2	0	LRMP	25123875	1.000000	0.71417	0.985000	0.45067	0.078000	0.17371	3.418000	0.52721	2.068000	0.61886	0.528000	0.53228	CTG		0.378	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		A	25232608	T	A	25232608	3	1	498	1	0	0	0	0	1	0	0	0	8952	1580	55	5	169	5	LRMP	12	25232608	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08	22526191	25232608	108619287	57	26943											
RPAP3	79657	broad.mit.edu	37	12	48063952	48063952	+	Silent	SNP	T	T	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:48063952T>G	ENST00000005386.3	-	13	1579	c.1464A>C	c.(1462-1464)acA>acC	p.T488T	RPAP3_ENST00000380650.4_Silent_p.T454T|RPAP3_ENST00000432584.3_Silent_p.T329T	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	488										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					GAGTATCACTTGTGGGAAAAA	0.388																																																0													193	182	186					12																	48063952		2203	4300	6503	SO:0001819	synonymous_variant	79657			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1464A>C	12.37:g.48063952T>G			B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	37	CCDS8753.1																																																																																				0.388	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		G	48063952	T	G	48063952	2	3	498	1	0	0	0	0	0	0	0	1	13549	1799	63	5		5	RPAP3	12	48063952	Silent	SNP	T	TCGA-CJ-4869-01A-02D-1429-08	22831344	48063952	85787943	58	26944											
DIP2B	57609	broad.mit.edu	37	12	51089695	51089695	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:51089695A>C	ENST00000301180.5	+	16	1912	c.1878A>C	c.(1876-1878)agA>agC	p.R626S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	626						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGGACCAAAGAGACGTGAGCT	0.423																																																0													224	193	204					12																	51089695		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1878A>C	12.37:g.51089695A>C	ENSP00000301180:p.Arg626Ser		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022041	0.54576	.	.	ENSG00000066084	ENST00000301180	T	0.39592	1.07	4.96	3.83	0.44106	AMP-dependent synthetase/ligase (1);	0.104610	0.64402	D	0.000003	T	0.43277	0.1240	M	0.64997	1.995	0.44508	D	0.997453	B	0.31290	0.318	B	0.42593	0.392	T	0.22347	-1.0219	10	0.22109	T	0.4	-17.6321	6.3917	0.21591	0.7824:0.0:0.2176:0.0	.	626	Q9P265	DIP2B_HUMAN	S	626	ENSP00000301180:R626S	ENSP00000301180:R626S	R	+	3	2	DIP2B	49375962	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.396000	0.44468	0.934000	0.37316	0.454000	0.30748	AGA		0.423	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		C	51089695	A	C	51089695	3	2	498	1	0	0	0	0	1	0	0	0	4530	301	11	5	1940	5	DIP2B	12	51089695	Missense_Mutation	SNP	A	TCGA-CJ-4869-01A-02D-1429-08	3025743	51089695	82762200	59	26945											
ITGA7	3679	broad.mit.edu	37	12	56078890	56078890	+	Silent	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:56078890C>T	ENST00000555728.1	-	26	3526	c.3498G>A	c.(3496-3498)ggG>ggA	p.G1166G	ITGA7_ENST00000257879.6_Silent_p.G1122G|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000553804.1_Silent_p.G1126G|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Silent_p.G1029G|ITGA7_ENST00000347027.6_Silent_p.G1116G|ITGA7_ENST00000394229.2_3'UTR			Q13683	ITA7_HUMAN	integrin, alpha 7	1166	3 X 4 AA repeats of D-X-H-P.				blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTCGGGATGCCCGTCAGCAG	0.682																																																0													31	32	32					12																	56078890		2201	4299	6500	SO:0001819	synonymous_variant	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3498G>A	12.37:g.56078890C>T			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37		.	.	.	.	.	.	.	.	.	.	C	9.007	0.981635	0.18812	.	.	ENSG00000135424	ENST00000557555	.	.	.	4.76	2.87	0.33458	.	0.153886	0.21607	U	0.071858	T	0.55417	0.1919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49925	-0.8887	5	.	.	.	.	6.9289	0.24429	0.0:0.7258:0.1748:0.0993	.	.	.	.	D	190	.	.	G	-	2	0	ITGA7	54365157	0.986000	0.35501	0.995000	0.50966	0.195000	0.23768	1.961000	0.40432	0.965000	0.38133	0.555000	0.69702	GGC		0.682	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		T	56078890	C	T	56078890	2	4	498	1	0	0	0	0	0	0	0	1	7883	726	26	2		2	ITGA7	12	56078890	Silent	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	4989195	56078890	77773005	60	26946											
METAP2	10988	broad.mit.edu	37	12	95888731	95888731	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:95888731A>T	ENST00000323666.5	+	6	819		c.e6-1		METAP2_ENST00000546753.1_Splice_Site|METAP2_ENST00000261220.9_Splice_Site|METAP2_ENST00000551840.1_Splice_Site|METAP2_ENST00000550777.1_Splice_Site	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						TTTTTGTTTTAGTGAAAAGTT	0.323																																																0													64	64	64					12																	95888731		2203	4300	6503	SO:0001630	splice_region_variant	10988			U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"Peptidase M"	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.591-1A>T	12.37:g.95888731A>T				Splice_Site	SNP	ENST00000323666.5	37	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002371	0.74932	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000553151;ENST00000550777;ENST00000551840;ENST00000549808	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6569	0.77144	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	METAP2	94412862	1.000000	0.71417	0.957000	0.39632	0.886000	0.51366	8.910000	0.92685	2.095000	0.63458	0.477000	0.44152	.		0.323	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838	Intron	T	95888731	A	T	95888731	5	4	498	1	0	0	0	0	0	0	1	0	9489	434	15	5	611	5	METAP2	12	95888731	Splice_Site	SNP	A	TCGA-CJ-4869-01A-02D-1429-08	39809841	95888731	37963164	61	26947											
EP400	57634	broad.mit.edu	37	12	132554124	132554124	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:132554124A>G	ENST00000333577.4	+	52	9176	c.9067A>G	c.(9067-9069)Acc>Gcc	p.T3023A	EP400_ENST00000330386.6_Missense_Mutation_p.T2906A|EP400_ENST00000389561.2_Missense_Mutation_p.T2987A|EP400_ENST00000389562.2_Missense_Mutation_p.T2986A|EP400_ENST00000332482.4_Missense_Mutation_p.T2950A			Q96L91	EP400_HUMAN	E1A binding protein p400	3023					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGTTTCTTACCACACCCAT	0.652																																																0													63	66	65					12																	132554124		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9067A>G	12.37:g.132554124A>G	ENSP00000333602:p.Thr3023Ala		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	A	15.54	2.862722	0.51482	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90133	-2.58;-2.59;-2.61;-2.61;-2.62	5.3	5.3	0.74995	.	0.155285	0.56097	D	0.000030	D	0.89691	0.6788	N	0.14661	0.345	0.32663	N	0.517848	D;D;D;D	0.58268	0.982;0.972;0.972;0.972	D;P;P;P	0.67548	0.952;0.574;0.574;0.574	D	0.91533	0.5244	10	0.59425	D	0.04	.	11.8582	0.52451	0.854:0.146:0.0:0.0	.	3023;2987;2906;2986	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	A	3023;2987;2986;2950;2906;2987	ENSP00000333602:T3023A;ENSP00000374212:T2987A;ENSP00000374213:T2986A;ENSP00000331737:T2950A;ENSP00000330620:T2906A	ENSP00000330620:T2906A	T	+	1	0	EP400	131120077	0.935000	0.31712	0.997000	0.53966	0.910000	0.53928	2.155000	0.42301	2.003000	0.58678	0.402000	0.26972	ACC		0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		G	132554124	A	G	132554124	3	3	498	1	0	0	0	0	1	0	0	0	5151	391	14	3	9154	3	EP400	12	132554124	Missense_Mutation	SNP	A	TCGA-CJ-4869-01A-02D-1429-08	36665393	132554124	1297771	62	26948											
EFHA1	221154	broad.mit.edu	37	13	22067422	22067422	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr13:22067422T>A	ENST00000382374.4	-	12	1336	c.1271A>T	c.(1270-1272)gAa>gTa	p.E424V	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	424					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TTTCCAGACTTCTTTTACTCC	0.313																																																0													180	171	174					13																	22067422		2202	4299	6501	SO:0001583	missense	221154			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1271A>T	13.37:g.22067422T>A	ENSP00000371811:p.Glu424Val		Q8N0T6|Q8NAX8	Missense_Mutation	SNP	ENST00000382374.4	37	CCDS9297.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282707	0.59867	.	.	ENSG00000165487	ENST00000382374	T	0.52983	0.64	5.92	4.74	0.60224	.	0.085006	0.85682	D	0.000000	T	0.48429	0.1499	L	0.34521	1.04	0.80722	D	1	D	0.56746	0.977	P	0.53450	0.726	T	0.46062	-0.9218	10	0.51188	T	0.08	-6.2397	11.9507	0.52954	0.0:0.0676:0.0:0.9324	.	424	Q8IYU8	EFHA1_HUMAN	V	424	ENSP00000371811:E424V	ENSP00000371811:E424V	E	-	2	0	EFHA1	20965422	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	7.328000	0.79160	1.067000	0.40740	-0.256000	0.11100	GAA		0.313	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		A	22067422	T	A	22067422	3	1	498	1	0	0	0	0	1	0	0	0	4945	1783	62	5	37	5	EFHA1	13	22067422	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08		22067422	93102456	63	26949											
RFXAP	5994	broad.mit.edu	37	13	37401839	37401839	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr13:37401839T>G	ENST00000255476.2	+	3	902	c.768T>G	c.(766-768)aaT>aaG	p.N256K	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	256	C-terminal domain.				positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		AGCTATTAAATCAGCAAGTTT	0.318																																																0													96	92	94					13																	37401839		2203	4299	6502	SO:0001583	missense	5994			Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.768T>G	13.37:g.37401839T>G	ENSP00000255476:p.Asn256Lys		B2R9T8|Q5VZM6|Q8TC40	Missense_Mutation	SNP	ENST00000255476.2	37	CCDS9359.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699485	0.68501	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.62	1.8	0.24995	.	0.343424	0.34628	N	0.003805	T	0.32496	0.0831	L	0.44542	1.39	0.33862	D	0.633854	P	0.36535	0.557	B	0.36845	0.234	T	0.40040	-0.9584	9	0.08599	T	0.76	-12.0729	8.0447	0.30542	0.0:0.3368:0.0:0.6632	.	256	O00287	RFXAP_HUMAN	K	256	.	ENSP00000255476:N256K	N	+	3	2	RFXAP	36299839	1.000000	0.71417	0.978000	0.43139	0.832000	0.47134	1.487000	0.35540	0.072000	0.16694	0.528000	0.53228	AAT		0.318	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		G	37401839	T	G	37401839	3	3	498	1	0	0	0	0	1	0	0	0	13276	1432	50	5	778	5	RFXAP	13	37401839	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08	15334417	37401839	77768039	64	26950											
MYO16	23026	broad.mit.edu	37	13	109792688	109792688	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr13:109792688C>A	ENST00000357550.2	+	31	4103	c.4062C>A	c.(4060-4062)agC>agA	p.S1354R	MYO16_ENST00000356711.2_Missense_Mutation_p.S1354R	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCAAGCGCAGCCCCAACACCA	0.692																																																0													43	35	38					13																	109792688		2199	4285	6484	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4062C>A	13.37:g.109792688C>A	ENSP00000350160:p.Ser1354Arg			Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166575	0.38217	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.57752	0.38;0.38	4.84	2.12	0.27331	.	0.285026	0.24169	U	0.040903	T	0.39682	0.1087	L	0.48362	1.52	0.80722	D	1	B	0.24576	0.106	B	0.20767	0.031	T	0.10086	-1.0645	9	.	.	.	.	7.2519	0.26154	0.0:0.5106:0.0:0.4894	.	1354	Q9Y6X6	MYO16_HUMAN	R	1354	ENSP00000349145:S1354R;ENSP00000350160:S1354R	.	S	+	3	2	MYO16	108590689	0.994000	0.37717	0.988000	0.46212	0.972000	0.66771	0.285000	0.18883	0.105000	0.17753	0.305000	0.20034	AGC		0.692	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		A	109792688	C	A	109792688	3	1	498	1	0	0	0	0	1	0	0	0	10066	738	26	4	4184	4	MYO16	13	109792688	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	72390849	109792688	5377190	65	26951											
KIAA1409	57578	broad.mit.edu	37	14	94004418	94004418	+	Silent	SNP	G	G	T	rs572376037		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr14:94004418G>T	ENST00000393151.2	+	12	1206	c.1206G>T	c.(1204-1206)cgG>cgT	p.R402R	UNC79_ENST00000555664.1_Silent_p.R402R|UNC79_ENST00000256339.4_Silent_p.R225R|UNC79_ENST00000553484.1_Silent_p.R402R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	402					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGCCTGTTCGGTACTGCAAGA	0.552																																																0													78	73	75					14																	94004418		2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1206G>T	14.37:g.94004418G>T			B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.552	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		T	94004418	G	T	94004418	2	4	498	1	0	0	0	0	0	0	0	1	8232	1248	44	4		4	KIAA1409	14	94004418	Silent	SNP	G	TCGA-CJ-4869-01A-02D-1429-08		94004418	13345122	66	26952											
OCA2	4948	broad.mit.edu	37	15	28230225	28230225	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr15:28230225G>T	ENST00000354638.3	-	13	1504	c.1349C>A	c.(1348-1350)aCg>aAg	p.T450K	OCA2_ENST00000353809.5_Missense_Mutation_p.T426K|OCA2_ENST00000382996.2_Missense_Mutation_p.T450K	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	450					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGTCACAGGCGTGAAGAGGAG	0.622									Oculocutaneous Albinism																																							0			GRCh37	CM085601	OCA2	M							143	100	115					15																	28230225		2203	4300	6503	SO:0001583	missense	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1349C>A	15.37:g.28230225G>T	ENSP00000346659:p.Thr450Lys		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887734	0.91814	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.92647	-3.08;-3.08;-3.08	5.2	5.2	0.72013	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	M	0.84846	2.72	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	D	0.96961	0.9701	10	0.87932	D	0	-25.2909	18.0938	0.89482	0.0:0.0:1.0:0.0	.	426;450	Q04671-2;Q04671	.;P_HUMAN	K	450;426;450	ENSP00000346659:T450K;ENSP00000261276:T426K;ENSP00000372457:T450K	ENSP00000261276:T426K	T	-	2	0	OCA2	25903820	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.948000	0.93006	2.576000	0.86940	0.655000	0.94253	ACG		0.622	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		T	28230225	G	T	28230225	3	4	498	1	0	0	0	0	1	0	0	0	10817	1145	40	4	1215	4	OCA2	15	28230225	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08		28230225	74301167	67	26953											
CCPG1	9236	broad.mit.edu	37	15	55652554	55652554	+	Missense_Mutation	SNP	C	C	T	rs373056381		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr15:55652554C>T	ENST00000310958.6	-	8	1715	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Missense_Mutation_p.G473R|CCPG1_ENST00000569205.1_Missense_Mutation_p.G473R	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	473					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)		CTGTGGCTTCCTCTGCCCCCT	0.398																																																0								C	ARG/GLY,,ARG/GLY,ARG/GLY	0,3642		0,0,1821	304	280	288		1417,,1417,1417	5.6	1	15		288	1,8157		0,1,4078	no	missense,intron,missense,missense	CCPG1	NM_001204450.1,NM_001204451.1,NM_004748.4,NM_020739.3	125,,125,125	0,1,5899	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging,,probably-damaging,probably-damaging	473/808,,473/758,473/758	55652554	1,11799	1821	4079	5900	SO:0001583	missense	9236			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.1417G>A	15.37:g.55652554C>T	ENSP00000311656:p.Gly473Arg		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735010	0.69189	0.0	1.23E-4	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.35236	1.32;1.32	5.62	5.62	0.85841	.	0.475945	0.24740	N	0.036000	T	0.55784	0.1942	L	0.54323	1.7	0.43503	D	0.995753	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.992;0.995;0.995;0.992	T	0.41662	-0.9496	10	0.24483	T	0.36	.	18.6399	0.91392	0.0:1.0:0.0:0.0	.	473;473;473;329	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	R	473	ENSP00000311656:G473R;ENSP00000403400:G473R	ENSP00000311656:G473R	G	-	1	0	DYX1C1	53439846	1.000000	0.71417	0.994000	0.49952	0.949000	0.60115	3.680000	0.54641	2.662000	0.90505	0.655000	0.94253	GGA		0.398	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		T	55652554	C	T	55652554	3	4	498	1	0	0	0	0	1	0	0	0	2940	690	24	2	860	2	CCPG1	15	55652554	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	27422329	55652554	46878838	68	26954											
SMG1	23049	broad.mit.edu	37	16	18908185	18908185	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr16:18908185A>T	ENST00000446231.2	-	2	598	c.186T>A	c.(184-186)aaT>aaA	p.N62K	SMG1_ENST00000565224.1_Missense_Mutation_p.N36K|SMG1_ENST00000389467.3_Missense_Mutation_p.N62K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	62	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCACAGCTGAATTTGAAGGTT	0.403																																																0													15	14	14					16																	18908185		1833	4055	5888	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.186T>A	16.37:g.18908185A>T	ENSP00000402515:p.Asn62Lys		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326293	0.41197	.	.	ENSG00000157106	ENST00000446231;ENST00000389467;ENST00000532700	T;T;T	0.11712	2.75;2.75;2.75	4.83	4.83	0.62350	.	0.170093	0.39544	U	0.001330	T	0.07999	0.0200	N	0.19112	0.55	0.37068	D	0.89839	B	0.25105	0.118	B	0.21917	0.037	T	0.31024	-0.9958	10	0.24483	T	0.36	.	14.4133	0.67132	1.0:0.0:0.0:0.0	.	62	Q96Q15	SMG1_HUMAN	K	62;62;36	ENSP00000402515:N62K;ENSP00000374118:N62K;ENSP00000432825:N36K	ENSP00000374118:N62K	N	-	3	2	SMG1	18815686	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.653000	0.61462	1.807000	0.52817	0.454000	0.30748	AAT		0.403	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		T	18908185	A	T	18908185	3	4	498	1	0	0	0	0	1	0	0	0	14801	98	4	5	11047	5	SMG1	16	18908185	Missense_Mutation	SNP	A	TCGA-CJ-4869-01A-02D-1429-08		18908185	71446568	69	26955											
DOK4	55715	broad.mit.edu	37	16	57508842	57508842	+	Silent	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr16:57508842C>T	ENST00000340099.4	-	6	833	c.462G>A	c.(460-462)gaG>gaA	p.E154E	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Silent_p.E154E|DOK4_ENST00000566936.1_Silent_p.E154E	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	154	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GCAGCTTGCACTCGCCATACA	0.607																																																0													128	110	116					16																	57508842		2198	4300	6498	SO:0001819	synonymous_variant	55715			BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"Pleckstrin homology (PH) domain containing"	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.462G>A	16.37:g.57508842C>T			O75209|Q9BTP2|Q9NVV3	Silent	SNP	ENST00000340099.4	37	CCDS10783.1																																																																																				0.607	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			T	57508842	C	T	57508842	2	4	498	1	0	0	0	0	0	0	0	1	4701	564	20	2		2	DOK4	16	57508842	Silent	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	38600657	57508842	32845911	70	26956											
DPEP3	64180	broad.mit.edu	37	16	68009728	68009728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr16:68009728G>T	ENST00000268793.4	-	10	1855	c.1482C>A	c.(1480-1482)taC>taA	p.Y494*	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	469					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTGGAACAAGGTATGGGGAGG	0.602																																																0													90	86	87					16																	68009728		2198	4300	6498	SO:0001587	stop_gained	64180			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1482C>A	16.37:g.68009728G>T	ENSP00000268793:p.Tyr494*		B3KQ48|Q6PEZ5|Q6UXE4	Nonsense_Mutation	SNP	ENST00000268793.4	37	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	G	35	5.523172	0.96431	.	.	ENSG00000141096	ENST00000268793	.	.	.	3.8	-0.758	0.11049	.	2.808830	0.00710	N	0.000823	.	.	.	.	.	.	0.39909	D	0.974008	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.392	0.5383	0.00640	0.2532:0.1913:0.36:0.1954	.	.	.	.	X	494	.	ENSP00000268793:Y494X	Y	-	3	2	DPEP3	66567229	0.000000	0.05858	0.000000	0.03702	0.478000	0.33099	-0.369000	0.07533	-0.083000	0.12618	0.655000	0.94253	TAC		0.602	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		T	68009728	G	T	68009728	4	4	498	1	0	0	0	0	0	1	0	0	4717	1256	44	4	63	4	DPEP3	16	68009728	Nonsense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	10500886	68009728	22345025	71	26957											
ANKRD11	29123	broad.mit.edu	37	16	89348224	89348224	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr16:89348224C>T	ENST00000301030.4	-	9	5186	c.4726G>A	c.(4726-4728)Ggc>Agc	p.G1576S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1576S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1576	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ATCAGGTCGCCGTCCCCCAGG	0.587																																																0													68	60	63					16																	89348224		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4726G>A	16.37:g.89348224C>T	ENSP00000301030:p.Gly1576Ser		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426168	0.83667	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.42513	0.97;0.97	5.08	5.08	0.68730	.	0.136032	0.49305	D	0.000142	T	0.39172	0.1068	N	0.14661	0.345	0.80722	D	1	D	0.63046	0.992	P	0.50617	0.646	T	0.43212	-0.9405	10	0.59425	D	0.04	.	18.0532	0.89356	0.0:1.0:0.0:0.0	.	1576	Q6UB99	ANR11_HUMAN	S	1576	ENSP00000301030:G1576S;ENSP00000367581:G1576S	ENSP00000301030:G1576S	G	-	1	0	ANKRD11	87875725	1.000000	0.71417	0.902000	0.35471	0.821000	0.46438	7.239000	0.78182	2.353000	0.79882	0.462000	0.41574	GGC		0.587	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		T	89348224	C	T	89348224	3	4	498	1	0	0	0	0	1	0	0	0	639	652	23	1	3285	1	ANKRD11	16	89348224	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	21338496	89348224	1006529	72	26958											
MAPK7	5598	broad.mit.edu	37	17	19284327	19284327	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr17:19284327C>A	ENST00000308406.5	+	4	1191	c.805C>A	c.(805-807)Cac>Aac	p.H269N	B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.H269N|MAPK7_ENST00000395602.4_Missense_Mutation_p.H269N|MFAP4_ENST00000574313.2_5'Flank|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.H130N|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	269	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAACTATGTACACCAGCTACA	0.562																																																0													40	41	41					17																	19284327		2203	4300	6503	SO:0001583	missense	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.805C>A	17.37:g.19284327C>A	ENSP00000311005:p.His269Asn		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809447	0.50421	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	N	0.05608	-0.01	0.53005	D	0.999962	D	0.69078	0.997	D	0.66979	0.948	T	0.69684	-0.5079	10	0.59425	D	0.04	-23.564	15.5975	0.76599	0.0:1.0:0.0:0.0	.	269	Q13164	MK07_HUMAN	N	269;130;269;269	ENSP00000311005:H269N;ENSP00000299612:H130N;ENSP00000378968:H269N;ENSP00000378966:H269N	ENSP00000299612:H130N	H	+	1	0	MAPK7	19224920	0.996000	0.38824	0.993000	0.49108	0.839000	0.47603	3.071000	0.50041	2.335000	0.79485	0.561000	0.74099	CAC		0.562	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		A	19284327	C	A	19284327	3	1	498	1	0	0	0	0	1	0	0	0	9284	478	17	4	815	4	MAPK7	17	19284327	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08		19284327	61910883	73	26959											
KRT27	342574	broad.mit.edu	37	17	38938401	38938401	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr17:38938401C>A	ENST00000301656.3	-	1	385	c.345G>T	c.(343-345)aaG>aaT	p.K115N		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACCCCTTGATCTTCTGCTCCA	0.498																																																0													158	140	146					17																	38938401		2203	4300	6503	SO:0001583	missense	342574			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.345G>T	17.37:g.38938401C>A	ENSP00000301656:p.Lys115Asn			Missense_Mutation	SNP	ENST00000301656.3	37	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682834	0.88542	.	.	ENSG00000171446	ENST00000301656	D	0.90788	-2.73	5.66	5.66	0.87406	Filament (1);	0.000000	0.64402	D	0.000002	D	0.96658	0.8909	H	0.95365	3.66	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.97244	0.9893	10	0.87932	D	0	.	14.3234	0.66502	0.0:0.9266:0.0:0.0734	.	115	Q7Z3Y8	K1C27_HUMAN	N	115	ENSP00000301656:K115N	ENSP00000301656:K115N	K	-	3	2	KRT27	36191927	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	0.203000	0.17315	2.815000	0.96918	0.650000	0.86243	AAG		0.498	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		A	38938401	C	A	38938401	3	1	498	1	0	0	0	0	1	0	0	0	8466	912	32	4	1066	4	KRT27	17	38938401	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08	19654074	38938401	42256809	74	26960											
TBX21	30009	broad.mit.edu	37	17	45822521	45822521	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr17:45822521G>A	ENST00000177694.1	+	6	1608	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	466					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGAGGGACGGGGACCAGAG	0.657																																																0													33	34	34					17																	45822521		2203	4300	6503	SO:0001583	missense	30009			AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"T-boxes"	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1397G>A	17.37:g.45822521G>A	ENSP00000177694:p.Arg466Gln			Missense_Mutation	SNP	ENST00000177694.1	37	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201376	0.22121	.	.	ENSG00000073861	ENST00000177694	D	0.84730	-1.89	4.85	1.43	0.22495	.	1.986640	0.02720	N	0.113909	T	0.77253	0.4103	L	0.29908	0.895	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.59878	-0.7371	10	0.34782	T	0.22	.	5.1991	0.15254	0.4399:0.0:0.5601:0.0	.	466	Q9UL17	TBX21_HUMAN	Q	466	ENSP00000177694:R466Q	ENSP00000177694:R466Q	R	+	2	0	TBX21	43177520	1.000000	0.71417	0.179000	0.23059	0.144000	0.21451	2.836000	0.48183	0.548000	0.28955	0.655000	0.94253	CGG		0.657	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		A	45822521	G	A	45822521	3	1	498	1	0	0	0	0	1	0	0	0	15662	1116	39	1	1419	1	TBX21	17	45822521	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	6884120	45822521	35372689	75	26961											
GPR142	350383	broad.mit.edu	37	17	72368005	72368005	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr17:72368005G>A	ENST00000335666.4	+	4	703	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	219						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCTCCTGCAGGGAGCAGTGCT	0.632																																																0													75	59	64					17																	72368005		2203	4300	6503	SO:0001583	missense	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.655G>A	17.37:g.72368005G>A	ENSP00000335158:p.Gly219Arg		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989299	0.74589	.	.	ENSG00000257008	ENST00000335666	T	0.71817	-0.6	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.121437	0.56097	D	0.000023	T	0.74520	0.3727	L	0.36672	1.1	0.41702	D	0.989407	D;D	0.76494	0.999;0.998	D;D	0.73380	0.967;0.98	T	0.71009	-0.4716	10	0.30854	T	0.27	-16.8992	11.5207	0.50549	0.0853:0.0:0.9147:0.0	.	219;1181	Q7Z601;Q8NGB0	GP142_HUMAN;.	R	219	ENSP00000335158:G219R	ENSP00000335158:G219R	G	+	1	0	GPR142	69879600	1.000000	0.71417	0.992000	0.48379	0.922000	0.55478	4.201000	0.58439	2.708000	0.92522	0.650000	0.86243	GGA		0.632	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		A	72368005	G	A	72368005	3	1	498	1	0	0	0	0	1	0	0	0	6652	1233	43	2	669	2	GPR142	17	72368005	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	26545484	72368005	8827205	76	26962											
VPS4B	9525	broad.mit.edu	37	18	61064278	61064278	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr18:61064278G>T	ENST00000238497.5	-	9	1284	c.1081C>A	c.(1081-1083)Cat>Aat	p.H361N	VPS4B_ENST00000591383.1_5'Flank	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	361					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TTTTTAAAATGAGTAGCTGAC	0.403																																																0													89	87	88					18																	61064278		2203	4300	6503	SO:0001583	missense	9525			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.1081C>A	18.37:g.61064278G>T	ENSP00000238497:p.His361Asn		Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594618	0.86953	.	.	ENSG00000119541	ENST00000238497	D	0.93859	-3.3	6.17	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.992;0.999	D	0.97529	1.0078	10	0.72032	D	0.01	-24.9649	15.9972	0.80260	0.065:0.0:0.935:0.0	.	361;361;361	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	N	361	ENSP00000238497:H361N	ENSP00000238497:H361N	H	-	1	0	VPS4B	59215258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	CAT		0.403	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		T	61064278	G	T	61064278	3	4	498	1	0	0	0	0	1	0	0	0	17218	1290	45	4	265	4	VPS4B	18	61064278	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08		61064278	17012970	77	26963											
MUC16	94025	broad.mit.edu	37	19	9061452	9061452	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr19:9061452G>A	ENST00000397910.4	-	3	26197	c.25994C>T	c.(25993-25995)gCt>gTt	p.A8665V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8667	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTAAGTCAGCCAAAACAGA	0.443																																																0													126	114	118					19																	9061452		1910	4125	6035	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25994C>T	19.37:g.9061452G>A	ENSP00000381008:p.Ala8665Val		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	6.515	0.463273	0.12402	.	.	ENSG00000181143	ENST00000397910	T	0.22945	1.93	2.16	-1.45	0.08828	.	.	.	.	.	T	0.17280	0.0415	L	0.32530	0.975	.	.	.	B	0.20052	0.041	B	0.23574	0.047	T	0.26780	-1.0093	8	0.87932	D	0	.	5.2558	0.15546	0.4628:0.0:0.5372:0.0	.	8665	B5ME49	.	V	8665	ENSP00000381008:A8665V	ENSP00000381008:A8665V	A	-	2	0	MUC16	8922452	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.024000	0.03603	-0.251000	0.09542	0.394000	0.25966	GCT		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9061452	G	A	9061452	3	1	498	1	0	0	0	0	1	0	0	0	9975	971	34	2	17857	2	MUC16	19	9061452	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08		9061452	50067531	78	26964											
CCDC151	115948	broad.mit.edu	37	19	11537537	11537537	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr19:11537537G>C	ENST00000356392.4	-	5	767	c.680C>G	c.(679-681)aCc>aGc	p.T227S	CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000586836.1_Missense_Mutation_p.T36S|CCDC151_ENST00000545100.1_Missense_Mutation_p.T173S	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	227										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GTACACGCTGGTAATGTGCTC	0.622																																																0													66	69	68					19																	11537537		2091	4229	6320	SO:0001583	missense	115948				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.680C>G	19.37:g.11537537G>C	ENSP00000348757:p.Thr227Ser		B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709906	0.30322	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.83163	-1.69;-1.69	4.95	4.95	0.65309	.	0.249082	0.39274	N	0.001411	T	0.79137	0.4395	L	0.59436	1.845	0.23645	N	0.997219	P;P	0.45957	0.869;0.869	P;P	0.45276	0.475;0.475	T	0.68697	-0.5340	10	0.13108	T	0.6	-26.5309	9.3325	0.38030	0.0989:0.0:0.9011:0.0	.	227;207	A5D8V7;B4DG09	CC151_HUMAN;.	S	173;227;206	ENSP00000442987:T173S;ENSP00000348757:T227S	ENSP00000348757:T227S	T	-	2	0	CCDC151	11398537	0.994000	0.37717	0.638000	0.29380	0.590000	0.36582	2.288000	0.43514	2.291000	0.77112	0.561000	0.74099	ACC		0.622	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		C	11537537	G	C	11537537	3	2	498	1	0	0	0	0	1	0	0	0	2788	1261	44	4	1143	4	CCDC151	19	11537537	Missense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	2476085	11537537	47591446	79	26965											
C20orf26	26074	broad.mit.edu	37	20	20180478	20180478	+	Missense_Mutation	SNP	C	C	G	rs147638085		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr20:20180478C>G	ENST00000245957.5	+	17	1940	c.1864C>G	c.(1864-1866)Cga>Gga	p.R622G	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		622										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCGACCACGACGACAGATTGT	0.557																																																0													152	135	140					20																	20180478		2203	4300	6503	SO:0001583	missense	26074																														ENST00000245957.5:c.1864C>G	20.37:g.20180478C>G	ENSP00000245957:p.Arg622Gly		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.06|18.06	3.538808|3.538808	0.65085|0.65085	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000431753|ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	.|T	.|0.56941	.|0.43	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.72087|0.72087	0.3417|0.3417	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.997	.|D;D	.|0.85130	.|0.997;0.965	T|T	0.73544|0.73544	-0.3949|-0.3949	5|10	.|0.72032	.|D	.|0.01	.|.	19.5625|19.5625	0.95378|0.95378	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|602;622	.|F8W6K4;Q8NHU2	.|.;CT026_HUMAN	E|G	161|562;190;602;622	.|ENSP00000245957:R622G	.|ENSP00000245957:R622G	D|R	+|+	3|1	2|2	C20orf26|C20orf26	20128478|20128478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.225000|4.225000	0.58600|0.58600	2.620000|2.620000	0.88729|0.88729	0.563000|0.563000	0.77884|0.77884	GAC|CGA		0.557	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			G	20180478	C	G	20180478	3	3	498	1	0	0	0	0	1	0	0	0	2108	528	19	4	1958	4	C20orf26	20	20180478	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08		20180478	42845042	80	26966											
R3HDML	140902	broad.mit.edu	37	20	42979419	42979419	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr20:42979419T>G	ENST00000217043.2	+	5	921	c.749T>G	c.(748-750)tTc>tGc	p.F250C	RP5-881L22.5_ENST00000438702.1_RNA|RP5-881L22.5_ENST00000430481.2_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	250						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TCCAACAAGTTCACGTGGTTC	0.522																																																0													162	142	149					20																	42979419		2203	4300	6503	SO:0001583	missense	140902			BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.749T>G	20.37:g.42979419T>G	ENSP00000217043:p.Phe250Cys			Missense_Mutation	SNP	ENST00000217043.2	37	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175009	0.38413	.	.	ENSG00000101074	ENST00000217043	T	0.06768	3.26	4.64	4.64	0.57946	.	0.486384	0.19009	N	0.125123	T	0.06188	0.0160	N	0.14661	0.345	0.22947	N	0.998527	B	0.32425	0.371	B	0.30179	0.112	T	0.31081	-0.9956	10	0.59425	D	0.04	.	13.738	0.62829	0.0:0.0:0.0:1.0	.	250	Q9H3Y0	CRSPL_HUMAN	C	250	ENSP00000217043:F250C	ENSP00000217043:F250C	F	+	2	0	R3HDML	42412833	0.814000	0.29104	0.193000	0.23327	0.007000	0.05969	4.067000	0.57527	1.731000	0.51592	0.459000	0.35465	TTC		0.522	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		G	42979419	T	G	42979419	3	3	498	1	0	0	0	0	1	0	0	0	12895	1783	62	5	767	5	R3HDML	20	42979419	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08	22798941	42979419	20046101	81	26967											
CECR1	51816	broad.mit.edu	37	22	17662885	17662885	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr22:17662885T>A	ENST00000399839.1	-	9	1537	c.1267A>T	c.(1267-1269)Aac>Tac	p.N423Y	CECR1_ENST00000262607.3_Missense_Mutation_p.N423Y|CECR1_ENST00000399837.2_Missense_Mutation_p.N423Y|CECR1_ENST00000449907.2_Missense_Mutation_p.N381Y|CECR1_ENST00000330232.4_Missense_Mutation_p.N182Y	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	423					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ACAGGGTGGTTCCTCAAGTCA	0.507																																																0													77	68	71					22																	17662885		2203	4300	6503	SO:0001583	missense	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1267A>T	22.37:g.17662885T>A	ENSP00000382733:p.Asn423Tyr		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543349	0.65198	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	3.92	3.92	0.45320	Adenosine/AMP deaminase (1);	0.141586	0.64402	D	0.000009	D	0.98002	0.9342	M	0.92833	3.35	0.47949	D	0.999554	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.98730	1.0712	10	0.87932	D	0	.	12.8002	0.57582	0.0:0.0:0.0:1.0	.	423;182	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	Y	423;182;423;381;423	ENSP00000382733:N423Y;ENSP00000332871:N182Y;ENSP00000262607:N423Y;ENSP00000406443:N381Y;ENSP00000382731:N423Y	ENSP00000262607:N423Y	N	-	1	0	CECR1	16042885	1.000000	0.71417	0.991000	0.47740	0.637000	0.38172	6.692000	0.74578	1.407000	0.46875	0.454000	0.30748	AAC		0.507	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			A	17662885	T	A	17662885	3	1	498	1	0	0	0	0	1	0	0	0	3207	1783	62	5	276	5	CECR1	22	17662885	Missense_Mutation	SNP	T	TCGA-CJ-4869-01A-02D-1429-08		17662885	33641681	82	26968											
RS1	6247	broad.mit.edu	37	X	18690181	18690181	+	Missense_Mutation	SNP	C	C	T	rs374672514		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chrX:18690181C>T	ENST00000379984.3	-	1	48	c.8G>A	c.(7-9)cGc>cAc	p.R3H		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	3					adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.R3H(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TTCTATCTTGCGTGACATCTT	0.428																																																1	Substitution - Missense(1)	endometrium(1)						C	HIS/ARG	0,3835		0,0,1632,571	156	125	136		8	-3.2	0.9	X		136	1,6727		0,1,2427,1872	no	missense	RS1	NM_000330.3	29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	3/225	18690181	1,10562	2203	4300	6503	SO:0001583	missense	6247			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.8G>A	X.37:g.18690181C>T	ENSP00000369320:p.Arg3His		Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678011	0.29783	0.0	1.49E-4	ENSG00000102104	ENST00000379984	D	0.98419	-4.92	5.69	-3.16	0.05217	.	1.268860	0.04873	N	0.446309	D	0.89605	0.6763	N	0.03608	-0.345	0.21147	N	0.999777	B	0.10296	0.003	B	0.04013	0.001	D	0.87769	0.2604	10	0.02654	T	1	.	0.4628	0.00519	0.3113:0.2251:0.119:0.3445	.	3	O15537	XLRS1_HUMAN	H	3	ENSP00000369320:R3H	ENSP00000369320:R3H	R	-	2	0	RS1	18600102	0.051000	0.20477	0.911000	0.35937	0.926000	0.56050	-2.037000	0.01420	-0.504000	0.06577	0.600000	0.82982	CGC		0.428	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			T	18690181	C	T	18690181	3	4	498	1	0	0	0	0	1	0	0	0	13699	768	27	1	690	1	RS1	23	18690181	Missense_Mutation	SNP	C	TCGA-CJ-4869-01A-02D-1429-08		18690181	136580379	83	26969											
TEX11	56159	broad.mit.edu	37	X	69871375	69871375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chrX:69871375G>A	ENST00000395889.2	-	18	1608	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	TEX11_ENST00000344304.3_Nonsense_Mutation_p.R485*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.R470*|TEX11_ENST00000374320.2_Nonsense_Mutation_p.R160*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	485					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGGTCATGTCGTTCAGCTTCT	0.348																																																0													46	43	44					X																	69871375		2203	4299	6502	SO:0001587	stop_gained	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1453C>T	X.37:g.69871375G>A	ENSP00000379226:p.Arg485*		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015795	0.75161	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	2.98	-0.294	0.12831	.	0.258114	0.31872	N	0.006924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9573	7.7923	0.29127	0.0:0.0:0.3467:0.6533	.	.	.	.	X	470;485;160;485	.	.	R	-	1	2	TEX11	69788100	0.293000	0.24371	0.001000	0.08648	0.104000	0.19210	0.473000	0.22132	0.031000	0.15407	-1.279000	0.01387	CGA		0.348	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			A	69871375	G	A	69871375	4	1	498	1	0	0	0	0	0	1	0	0	15779	1153	40	1	1425	1	TEX11	23	69871375	Nonsense_Mutation	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	51181194	69871375	85399185	84	26970											
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											6	Substitution - coding silent(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)											102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		C	73811938	G	C	73811938	2	2	498	1	0	0	0	0	0	0	0	1	13396	1335	47	4		4	RLIM	23	73811938	Silent	SNP	G	TCGA-CJ-4869-01A-02D-1429-08	3940563	73811938	81458622	85	26971											
ODZ1	10178	broad.mit.edu	37	X	124030083	124030083	+	Silent	SNP	T	T	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chrX:124030083T>C	ENST00000371130.3	-	2	288	c.225A>G	c.(223-225)gaA>gaG	p.E75E	TENM1_ENST00000422452.2_Silent_p.E75E	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	75	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTCACAGAATTCCATCTCTG	0.448																																																0													95	87	90					X																	124030083		2203	4300	6503	SO:0001819	synonymous_variant	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.225A>G	X.37:g.124030083T>C			B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																				0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		C	124030083	T	C	124030083	2	2	498	1	0	0	0	0	0	0	0	1	10836	1490	52	3		3	ODZ1	23	124030083	Silent	SNP	T	TCGA-CJ-4869-01A-02D-1429-08	50218145	124030083	31240477	86	26972											
PLAC1	10761	broad.mit.edu	37	X	133700599	133700599	+	Silent	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chrX:133700599T>A	ENST00000359237.4	-	3	399	c.114A>T	c.(112-114)acA>acT	p.T38T	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					AGGGGTGCACTGTGACCATGA	0.512																																																0													221	197	205					X																	133700599		2203	4300	6503	SO:0001819	synonymous_variant	10761			AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"cancer/testis antigen 92"	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.114A>T	X.37:g.133700599T>A				Silent	SNP	ENST00000359237.4	37	CCDS14642.1																																																																																				0.512	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		A	133700599	T	A	133700599	2	1	498	1	0	0	0	0	0	0	0	1	12014	1567	55	5		5	PLAC1	23	133700599	Silent	SNP	T	TCGA-CJ-4869-01A-02D-1429-08	9670516	133700599	21569961	87	26973											
ASAP3	55616	hgsc.bcm.edu	37	1	23756377	23756377	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr1:23756377G>C	ENST00000336689.3	-	25	2728	c.2684C>G	c.(2683-2685)gCa>gGa	p.A895G	ASAP3_ENST00000437606.2_Missense_Mutation_p.A886G|ASAP3_ENST00000495646.1_Missense_Mutation_p.A399G	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	895					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CACAGAACTTGCTGGGAGACT	0.507																																																0													82	69	73					1																	23756377		2203	4300	6503	SO:0001583	missense	55616			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2684C>G	1.37:g.23756377G>C	ENSP00000338769:p.Ala895Gly		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	CCDS235.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859663	0.51376	.	.	ENSG00000088280	ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.55234	1.89;0.53;0.53	4.3	3.35	0.38373	.	0.304822	0.26525	N	0.023886	T	0.31918	0.0812	N	0.08118	0	0.09310	N	0.999995	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.33828	-0.9853	10	0.87932	D	0	.	11.3362	0.49505	0.0:0.1848:0.8152:0.0	.	886;785;895	Q8TDY4-3;B4DRP2;Q8TDY4	.;.;ASAP3_HUMAN	G	399;895;195;886	ENSP00000436150:A399G;ENSP00000338769:A895G;ENSP00000408826:A886G	ENSP00000338769:A895G	A	-	2	0	ASAP3	23628964	0.999000	0.42202	0.346000	0.25655	0.635000	0.38103	3.078000	0.50096	1.112000	0.41740	0.561000	0.74099	GCA		0.507	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		C	23756377	G	C	23756377	3	2	499	1	0	0	0	0	1	0	0	0	1012	1319	46	4	31	4	ASAP3	1	23756377	Missense_Mutation	SNP	G	TCGA-CJ-4870-01A-01D-1373-10		23756377	225494244	1	26974											
ZNF687	5298	hgsc.bcm.edu;ucsc.edu	37	1	151261955	151261955	+	IGR	SNP	T	T	G			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr1:151261955T>G	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.F858C			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCAGTGTCTTTAAGTGCCCG	0.537																																					Colon(154;765 1838 9854 28443 37492)											0													168	145	153					1																	151261955		2203	4300	6503	SO:0001628	intergenic_variant	57592			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151261955T>G			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.067982|4.067982	0.76301|0.76301	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879|ENST00000426871	T;T;T|.	0.33654|.	1.4;1.4;1.4|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);|.	0.000000|.	0.36002|.	N|.	0.002842|.	T|T	0.65228|0.65228	0.2671|0.2671	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.66744|0.66744	-0.5846|-0.5846	10|5	0.87932|.	D|.	0|.	-12.7306|-12.7306	14.0604|14.0604	0.64797|0.64797	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	858;858|.	Q8N1G0-2;Q8N1G0|.	.;ZN687_HUMAN|.	C|V	858|461	ENSP00000336620:F858C;ENSP00000319829:F858C;ENSP00000357874:F858C|.	ENSP00000319829:F858C|.	F|L	+|+	2|1	0|2	ZNF687|ZNF687	149528579|149528579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.819000|7.819000	0.86621|0.86621	2.153000|2.153000	0.67306|0.67306	0.459000|0.459000	0.35465|0.35465	TTT|TTA		0.537	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		G	151261955	T	G	151261955	1	3	499	0	1	0	0	0	0	0	0	0	18097	1841	64	5		5	ZNF687	1	151261955	IGR	SNP	T	TCGA-CJ-4870-01A-01D-1373-10	127505578	151261955	97988666	2	26975											
DDX1	1653	hgsc.bcm.edu	37	2	15746321	15746321	+	Silent	SNP	A	A	C			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr2:15746321A>C	ENST00000381341.2	+	13	1139	c.750A>C	c.(748-750)ccA>ccC	p.P250P	DDX1_ENST00000233084.3_Silent_p.P250P			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	250	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTAAGTTTCCACCAAAAGATG	0.368																																																0													82	77	79					2																	15746321		2203	4300	6503	SO:0001819	synonymous_variant	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.750A>C	2.37:g.15746321A>C			B4DME8|B4DPN6	Silent	SNP	ENST00000381341.2	37	CCDS1686.1																																																																																				0.368	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		C	15746321	A	C	15746321	2	2	499	1	0	0	0	0	0	0	0	1	4343	146	6	5		5	DDX1	2	15746321	Silent	SNP	A	TCGA-CJ-4870-01A-01D-1373-10		15746321	227453052	3	26976											
FAM179A	165186	hgsc.bcm.edu;ucsc.edu	37	2	29256422	29256422	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr2:29256422A>G	ENST00000379558.4	+	16	2569	c.2218A>G	c.(2218-2220)Aag>Gag	p.K740E	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.K685E	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	740										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCTGCCCATCAAGGAGGGGTA	0.532																																																0													92	82	86					2																	29256422		2203	4300	6503	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2218A>G	2.37:g.29256422A>G	ENSP00000368876:p.Lys740Glu		Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	A	0.281	-0.986625	0.02180	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.13538	2.58;2.58	4.47	-1.25	0.09405	Armadillo-type fold (1);	2.039490	0.02201	N	0.062280	T	0.04679	0.0127	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33803	-0.9854	10	0.02654	T	1	.	5.8888	0.18896	0.2514:0.4266:0.322:0.0	.	685;740;38	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	E	740;685	ENSP00000368876:K740E;ENSP00000384699:K685E	ENSP00000368876:K740E	K	+	1	0	FAM179A	29109926	0.000000	0.05858	0.000000	0.03702	0.850000	0.48378	-0.077000	0.11394	-0.211000	0.10124	-0.411000	0.06167	AAG		0.532	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		G	29256422	A	G	29256422	3	3	499	1	0	0	0	0	1	0	0	0	5507	131	5	3	2276	3	FAM179A	2	29256422	Missense_Mutation	SNP	A	TCGA-CJ-4870-01A-01D-1373-10	13510101	29256422	213942951	4	26977											
LBH	81606	hgsc.bcm.edu	37	2	30480413	30480413	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr2:30480413C>T	ENST00000395323.3	+	3	452	c.244C>T	c.(244-246)Cct>Tct	p.P82S	LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.P88S|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_Missense_Mutation_p.P65S|LBH_ENST00000404397.1_Intron	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	82					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					CCGGTGGCCCCCTGAGGAGTT	0.562																																																0													50	56	54					2																	30480413		2203	4300	6503	SO:0001583	missense	81606			AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"limb bud and heart development homolog (mouse)"			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.244C>T	2.37:g.30480413C>T	ENSP00000378733:p.Pro82Ser		B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888342	0.91814	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81720	-0.0804	9	0.87932	D	0	-13.5752	16.8327	0.85949	0.0:1.0:0.0:0.0	.	82	Q53QV2	LBH_HUMAN	S	82;88;65	.	ENSP00000378733:P82S	P	+	1	0	LBH	30333917	1.000000	0.71417	0.977000	0.42913	0.988000	0.76386	7.495000	0.81514	2.211000	0.71520	0.549000	0.68633	CCT		0.562	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		T	30480413	C	T	30480413	3	4	499	1	0	0	0	0	1	0	0	0	8652	623	22	2	254	2	LBH	2	30480413	Missense_Mutation	SNP	C	TCGA-CJ-4870-01A-01D-1373-10	1223991	30480413	212718960	5	26978											
PPM1B	5495	hgsc.bcm.edu;ucsc.edu	37	2	44429133	44429133	+	Silent	SNP	T	T	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr2:44429133T>A	ENST00000282412.4	+	2	1207	c.795T>A	c.(793-795)tcT>tcA	p.S265S	PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Silent_p.S265S|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Silent_p.S265S|PPM1B_ENST00000378551.2_Silent_p.S265S	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	265					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTGAGGTATCTGATGACCTGG	0.353																																																0													109	106	107					2																	44429133		2203	4300	6503	SO:0001819	synonymous_variant	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.795T>A	2.37:g.44429133T>A			Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Silent	SNP	ENST00000282412.4	37	CCDS1817.1																																																																																				0.353	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		A	44429133	T	A	44429133	2	1	499	1	0	0	0	0	0	0	0	1	12341	1567	55	5		5	PPM1B	2	44429133	Silent	SNP	T	TCGA-CJ-4870-01A-01D-1373-10	13948720	44429133	198770240	6	26979											
MAP2	4133	hgsc.bcm.edu	37	2	210559405	210559405	+	Missense_Mutation	SNP	G	G	C	rs543596001		TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr2:210559405G>C	ENST00000360351.4	+	7	3017	c.2511G>C	c.(2509-2511)gaG>gaC	p.E837D	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E833D|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	837					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCCCATCAGAGACTGTGGTTG	0.507																																					Pancreas(27;423 979 28787 29963)											0													119	118	118					2																	210559405		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2511G>C	2.37:g.210559405G>C	ENSP00000353508:p.Glu837Asp		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	6.100	0.386721	0.11524	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.24723	1.84;1.84	5.67	4.74	0.60224	MAP2/Tau projection (1);	0.308471	0.27856	N	0.017573	T	0.15262	0.0368	L	0.29908	0.895	0.09310	N	0.999998	B;B	0.10296	0.002;0.003	B;B	0.12156	0.004;0.007	T	0.12041	-1.0563	10	0.21540	T	0.41	-7.6105	5.0917	0.14711	0.0732:0.1257:0.5585:0.2426	.	833;837	P11137-3;P11137	.;MAP2_HUMAN	D	837;833	ENSP00000353508:E837D;ENSP00000392164:E833D	ENSP00000353508:E837D	E	+	3	2	MAP2	210267650	0.213000	0.23551	0.990000	0.47175	0.890000	0.51754	0.241000	0.18065	2.683000	0.91414	0.557000	0.71058	GAG		0.507	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		C	210559405	G	C	210559405	3	2	499	1	0	0	0	0	1	0	0	0	9237	933	33	4	2525	4	MAP2	2	210559405	Missense_Mutation	SNP	G	TCGA-CJ-4870-01A-01D-1373-10	166130272	210559405	32639968	7	26980											
SPEG	10290	hgsc.bcm.edu	37	2	220342464	220342464	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr2:220342464A>G	ENST00000312358.7	+	21	4915	c.4783A>G	c.(4783-4785)Agg>Ggg	p.R1595G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1595					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCATCGAGGAAGGAGACTCAG	0.602																																																0													92	100	97					2																	220342464		2036	4175	6211	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4783A>G	2.37:g.220342464A>G	ENSP00000311684:p.Arg1595Gly		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.479332	0.26511	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.39406	1.08	4.84	2.3	0.28687	Protein kinase-like domain (1);	0.602886	0.13983	N	0.349370	T	0.35566	0.0936	N	0.25825	0.765	0.80722	D	1	P	0.47910	0.902	P	0.47528	0.549	T	0.09773	-1.0659	10	0.41790	T	0.15	.	10.7603	0.46261	0.4629:0.5371:0.0:0.0	.	1595	Q15772	SPEG_HUMAN	G	1595	ENSP00000311684:R1595G	ENSP00000265327:R1595G	R	+	1	2	SPEG	220050708	0.061000	0.20836	0.995000	0.50966	0.898000	0.52572	0.629000	0.24538	0.965000	0.38133	0.533000	0.62120	AGG		0.602	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		G	220342464	A	G	220342464	3	3	499	1	0	0	0	0	1	0	0	0	15041	63	3	3	4877	3	SPEG	2	220342464	Missense_Mutation	SNP	A	TCGA-CJ-4870-01A-01D-1373-10	9783059	220342464	22856909	8	26981											
OSBPL10	114884	hgsc.bcm.edu	37	3	31712424	31712424	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr3:31712424C>A	ENST00000396556.2	-	9	1900	c.1778G>T	c.(1777-1779)aGt>aTt	p.S593I	OSBPL10_ENST00000438237.2_Missense_Mutation_p.S529I	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	593					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGCGTAGGCACTAGGCAGGGT	0.562																																																0													119	106	110					3																	31712424		2203	4300	6503	SO:0001583	missense	114884			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1778G>T	3.37:g.31712424C>A	ENSP00000379804:p.Ser593Ile		B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.97|13.97	2.396832|2.396832	0.42512|0.42512	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000396556;ENST00000438237|ENST00000429492	T;T|.	0.32023|.	1.47;1.47|.	5.47|5.47	4.59|4.59	0.56863|0.56863	.|.	0.176017|.	0.64402|.	D|.	0.000008|.	T|T	0.70395|0.70395	0.3219|0.3219	M|M	0.85777|0.85777	2.775|2.775	0.27069|0.27069	N|N	0.96335|0.96335	D;D;D|.	0.76494|.	0.999;0.958;0.98|.	D;P;D|.	0.68765|.	0.96;0.821;0.936|.	T|T	0.65450|0.65450	-0.6165|-0.6165	10|5	0.62326|.	D|.	0.03|.	-11.8149|-11.8149	14.6358|14.6358	0.68689|0.68689	0.0:0.9284:0.0:0.0716|0.0:0.9284:0.0:0.0716	.|.	529;593;361|.	B4E212;Q9BXB5;Q59ED9|.	.;OSB10_HUMAN;.|.	I|L	593;529|362	ENSP00000379804:S593I;ENSP00000406124:S529I|.	ENSP00000379804:S593I|.	S|V	-|-	2|1	0|0	OSBPL10|OSBPL10	31687428|31687428	1.000000|1.000000	0.71417|0.71417	0.254000|0.254000	0.24359|0.24359	0.019000|0.019000	0.09904|0.09904	3.795000|3.795000	0.55499|0.55499	2.550000|2.550000	0.86006|0.86006	0.557000|0.557000	0.71058|0.71058	AGT|GTG		0.562	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			A	31712424	C	A	31712424	3	1	499	1	0	0	0	0	1	0	0	0	11277	565	20	4	532	4	OSBPL10	3	31712424	Missense_Mutation	SNP	C	TCGA-CJ-4870-01A-01D-1373-10		31712424	166310006	9	26982											
IGSF10	285313	hgsc.bcm.edu;ucsc.edu	37	3	151160902	151160902	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr3:151160902C>T	ENST00000282466.3	-	5	5832	c.5833G>A	c.(5833-5835)Gct>Act	p.A1945T	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1945	Ig-like C2-type 6.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGGATGCAGCTTCTATCCTG	0.493																																																0													137	136	137					3																	151160902		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5833G>A	3.37:g.151160902C>T	ENSP00000282466:p.Ala1945Thr		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.653456	0.00779	.	.	ENSG00000152580	ENST00000489791;ENST00000282466;ENST00000544042	T;T	0.65549	-0.16;-0.16	5.38	-2.84	0.05751	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.744670	0.03353	N	0.196527	T	0.31544	0.0800	N	0.01771	-0.73	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20174	-1.0283	10	0.13853	T	0.58	.	7.3472	0.26670	0.3387:0.4797:0.0:0.1816	.	1945	Q6WRI0	IGS10_HUMAN	T	13;1945;572	ENSP00000417627:A13T;ENSP00000282466:A1945T	ENSP00000282466:A1945T	A	-	1	0	IGSF10	152643592	0.000000	0.05858	0.030000	0.17652	0.049000	0.14656	-0.355000	0.07671	-0.354000	0.08212	-0.189000	0.12847	GCT		0.493	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		T	151160902	C	T	151160902	3	4	499	1	0	0	0	0	1	0	0	0	7599	797	28	2	2094	2	IGSF10	3	151160902	Missense_Mutation	SNP	C	TCGA-CJ-4870-01A-01D-1373-10	119448478	151160902	46861528	10	26983											
GPR98	84059	hgsc.bcm.edu;ucsc.edu	37	5	90000251	90000252	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr5:90000251_90000252insT	ENST00000405460.2	+	36	8428_8429	c.8332_8333insT	c.(8332-8334)attfs	p.I2778fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2778	Calx-beta 19. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGATGACAACATTCCTGAGGAG	0.332																																																0																																										SO:0001589	frameshift_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8334dupT	5.37:g.90000253_90000253dupT	ENSP00000384582:p.Ile2778fs		O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	CCDS47246.1																																																																																				0.332	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	90000252	-	T	90000251	7	5	499	1	0	1	1	0	0	0	0	0	6723	217	8	0	8474	0	GPR98	5	90000251	Frame_Shift_Ins	INS	-	TCGA-CJ-4870-01A-01D-1373-10		90000251	90915009	11	26984											
ARAP3	64411	hgsc.bcm.edu	37	5	141046056	141046056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr5:141046056G>T	ENST00000239440.4	-	17	2572	c.2507C>A	c.(2506-2508)tCa>tAa	p.S836*	ARAP3_ENST00000513878.1_Nonsense_Mutation_p.S498*|ARAP3_ENST00000508305.1_Nonsense_Mutation_p.S738*|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	836					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.S836*(2)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCCCGGCGCTGAGCACAGGAA	0.677																																																2	Substitution - Nonsense(2)	breast(2)											19	25	23					5																	141046056		2201	4292	6493	SO:0001587	stop_gained	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2507C>A	5.37:g.141046056G>T	ENSP00000239440:p.Ser836*		B4DIT1|D3DQE3	Nonsense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	40	8.500045	0.98838	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	.	.	.	5.53	5.53	0.82687	.	0.057711	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.0492	0.93036	0.0:0.0:1.0:0.0	.	.	.	.	X	738;836;498	.	ENSP00000239440:S836X	S	-	2	0	ARAP3	141026240	1.000000	0.71417	0.992000	0.48379	0.309000	0.27889	8.156000	0.89645	2.593000	0.87608	0.655000	0.94253	TCA		0.677	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		T	141046056	G	T	141046056	4	4	499	1	0	0	0	0	0	1	0	0	840	1294	45	4	2195	4	ARAP3	5	141046056	Nonsense_Mutation	SNP	G	TCGA-CJ-4870-01A-01D-1373-10	51045805	141046056	39869204	12	26985											
GEMIN5	25929	hgsc.bcm.edu;ucsc.edu	37	5	154271054	154271054	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr5:154271054T>A	ENST00000285873.7	-	26	4084	c.4009A>T	c.(4009-4011)Agg>Tgg	p.R1337W		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1337					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGAAGGCCTGTTTGGCTCT	0.488																																																0													174	166	169					5																	154271054		2203	4300	6503	SO:0001583	missense	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4009A>T	5.37:g.154271054T>A	ENSP00000285873:p.Arg1337Trp		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.859220	0.32884	.	.	ENSG00000082516	ENST00000285873	T	0.71103	-0.54	5.7	-11.4	0.00090	.	1.393920	0.04174	N	0.325351	T	0.42471	0.1204	N	0.22421	0.69	0.09310	N	1	P;P	0.44044	0.825;0.825	B;B	0.36289	0.221;0.221	T	0.55082	-0.8196	10	0.72032	D	0.01	1.4661	0.4331	0.00474	0.3935:0.1831:0.202:0.2214	.	1336;1337	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	W	1337	ENSP00000285873:R1337W	ENSP00000285873:R1337W	R	-	1	2	GEMIN5	154251247	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.954000	0.03873	-1.909000	0.01085	-0.333000	0.08304	AGG		0.488	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			A	154271054	T	A	154271054	3	1	499	1	0	0	0	0	1	0	0	0	6333	1579	55	5	529	5	GEMIN5	5	154271054	Missense_Mutation	SNP	T	TCGA-CJ-4870-01A-01D-1373-10	13224998	154271054	26644206	13	26986											
POR	5447	hgsc.bcm.edu	37	7	75614139	75614139	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr7:75614139C>T	ENST00000461988.1	+	11	1216	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C	POR_ENST00000545601.1_Missense_Mutation_p.R179C|POR_ENST00000419840.1_Missense_Mutation_p.R185C|POR_ENST00000394893.1_Missense_Mutation_p.R371C|POR_ENST00000450476.1_Missense_Mutation_p.R270C|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA|POR_ENST00000439269.1_Missense_Mutation_p.R109C	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	368	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TACGTCCTACCGCACGGCCCT	0.647																																																0													87	94	91					7																	75614139		2177	4274	6451	SO:0001583	missense	5447			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1111C>T	7.37:g.75614139C>T	ENSP00000419970:p.Arg371Cys		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	CCDS5579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.376342|4.376342	0.82682|0.82682	.|.	.|.	ENSG00000127948|ENSG00000127948	ENST00000447222|ENST00000461988;ENST00000419840;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269	.|D;D;D;D;D;D	.|0.84944	.|-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.22|5.22	4.31|4.31	0.51392|0.51392	.|Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	.|0.103888	.|0.64402	.|D	.|0.000002	D|D	0.94840|0.94840	0.8333|0.8333	H|H	0.96720|0.96720	3.87|3.87	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.987;0.999;0.998;0.999	D|D	0.96162|0.96162	0.9116|0.9116	5|10	.|0.87932	.|D	.|0	-29.9169|-29.9169	14.5495|14.5495	0.68057|0.68057	0.0:0.8527:0.1473:0.0|0.0:0.8527:0.1473:0.0	.|.	.|368;270;179;377	.|P16435;E7EVY7;F5H468;Q59ED7	.|NCPR_HUMAN;.;.;.	L|C	421|371;185;371;179;270;109	.|ENSP00000419970:R371C;ENSP00000414244:R185C;ENSP00000378355:R371C;ENSP00000446149:R179C;ENSP00000416572:R270C;ENSP00000412490:R109C	.|ENSP00000378355:R371C	P|R	+|+	2|1	0|0	POR|POR	75452075|75452075	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.026000|6.026000	0.70873|0.70873	1.140000|1.140000	0.42260|0.42260	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.647	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		T	75614139	C	T	75614139	3	4	499	1	0	0	0	0	1	0	0	0	12259	652	23	1	1149	1	POR	7	75614139	Missense_Mutation	SNP	C	TCGA-CJ-4870-01A-01D-1373-10		75614139	83524524	14	26987											
FOXP2	93986	hgsc.bcm.edu	37	7	114284748	114284748	+	Missense_Mutation	SNP	A	A	T	rs372704196		TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr7:114284748A>T	ENST00000393494.2	+	8	1277	c.998A>T	c.(997-999)cAt>cTt	p.H333L	FOXP2_ENST00000403559.4_Missense_Mutation_p.H350L|FOXP2_ENST00000393491.3_Missense_Mutation_p.H241L|FOXP2_ENST00000408937.3_Missense_Mutation_p.H358L|FOXP2_ENST00000393498.2_Missense_Mutation_p.H312L|FOXP2_ENST00000393500.3_Missense_Mutation_p.H258L|FOXP2_ENST00000390668.3_Missense_Mutation_p.H357L|FOXP2_ENST00000360232.4_Missense_Mutation_p.H333L|FOXP2_ENST00000350908.4_Missense_Mutation_p.H333L|FOXP2_ENST00000378237.3_Missense_Mutation_p.H333L|FOXP2_ENST00000393489.3_Missense_Mutation_p.H241L			O15409	FOXP2_HUMAN	forkhead box P2	333					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGCTCGTCACATGAGGAGACT	0.463																																																0								A	LEU/HIS,LEU/HIS,LEU/HIS,LEU/HIS,LEU/HIS,LEU/HIS	1,4405	2.1+/-5.4	0,1,2202	83	77	79		1049,998,1073,998,1073,995	4.5	1	7		79	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	FOXP2	NM_148900.3,NM_148899.3,NM_148898.3,NM_014491.3,NM_001172767.2,NM_001172766.2	99,99,99,99,99,99	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	350/733,333/433,358/741,333/716,358/458,332/715	114284748	1,13005	2203	4300	6503	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.998A>T	7.37:g.114284748A>T	ENSP00000377132:p.His333Leu		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991094	0.74703	2.27E-4	0.0	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.19669	2.14;2.14;2.14;2.14;2.14;2.13;2.14;2.14;2.14;2.14	5.64	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	M	0.69358	2.11	0.80722	D	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001;0.0;0.0	T	0.03086	-1.1074	10	0.59425	D	0.04	.	12.0276	0.53380	0.8704:0.0:0.0:0.1295	.	332;350;241;333;357;333;358	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	L	258;333;358;350;333;310;333;241;333;357;241	ENSP00000377137:H258L;ENSP00000377132:H333L;ENSP00000386200:H358L;ENSP00000385069:H350L;ENSP00000265436:H333L;ENSP00000367482:H333L;ENSP00000377129:H241L;ENSP00000353367:H333L;ENSP00000375084:H357L;ENSP00000377130:H241L	ENSP00000265436:H333L	H	+	2	0	FOXP2	114071984	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.910000	0.92685	0.957000	0.37930	-0.468000	0.05107	CAT		0.463	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		T	114284748	A	T	114284748	3	4	499	1	0	0	0	0	1	0	0	0	6029	217	8	5	1158	5	FOXP2	7	114284748	Missense_Mutation	SNP	A	TCGA-CJ-4870-01A-01D-1373-10	38670609	114284748	44853915	15	26988											
VPS13B	157680	hgsc.bcm.edu	37	8	100133693	100133693	+	Intron	SNP	G	G	T			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr8:100133693G>T	ENST00000358544.2	+	8	1317				CTD-2340D6.1_ENST00000523226.1_RNA|VPS13B_ENST00000395996.1_Intron|VPS13B_ENST00000355155.1_Intron|VPS13B_ENST00000357162.2_Intron|VPS13B_ENST00000441350.2_Missense_Mutation_p.C409F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCTCTTGCTGTTTATATCTC	0.333																																					Colon(161;2205 2542 7338 31318)											0													135	138	137					8																	100133693		2203	4300	6503	SO:0001627	intron_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1206+20G>T	8.37:g.100133693G>T			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	2.428	-0.331433	0.05314	.	.	ENSG00000132549	ENST00000441350	D	0.83163	-1.69	4.72	-7.74	0.01241	.	.	.	.	.	T	0.55049	0.1896	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46261	-0.9204	8	.	.	.	.	1.513	0.02500	0.4012:0.2873:0.119:0.1925	.	409	Q7Z7G8-5	.	F	409	ENSP00000398472:C409F	.	C	+	2	0	VPS13B	100202869	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.851000	0.04313	-1.656000	0.01495	-0.181000	0.13052	TGT		0.333	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		T	100133693	G	T	100133693	1	4	499	0	1	0	0	0	0	0	0	0	17195	1377	48	4		4	VPS13B	8	100133693	Intron	SNP	G	TCGA-CJ-4870-01A-01D-1373-10		100133693	46230329	16	26989											
ANGPT1	284	hgsc.bcm.edu;ucsc.edu	37	8	108334182	108334182	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr8:108334182C>A	ENST00000520734.1	-	3	435	c.150G>T	c.(148-150)caG>caT	p.Q50H	ANGPT1_ENST00000520052.1_Missense_Mutation_p.Q50H|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	250					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GCTCCAGTTGCTGCTTCTGAA	0.403																																																0													199	181	187					8																	108334182		2203	4300	6503	SO:0001583	missense	284			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.150G>T	8.37:g.108334182C>A	ENSP00000430750:p.Gln50His		Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37		.	.	.	.	.	.	.	.	.	.	C	16.87	3.240744	0.58995	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	T;T;T;T	0.55930	0.96;0.96;0.49;0.5	5.36	0.869	0.19096	.	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	M	0.77486	2.375	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.979;0.982;0.982	T	0.68127	-0.5491	10	0.72032	D	0.01	.	9.781	0.40649	0.0:0.5589:0.0:0.4411	.	50;250;250	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	H	250;250;62;50;50	ENSP00000428340:Q250H;ENSP00000297450:Q250H;ENSP00000430750:Q50H;ENSP00000429349:Q50H	ENSP00000297450:Q250H	Q	-	3	2	ANGPT1	108403358	0.997000	0.39634	1.000000	0.80357	0.968000	0.65278	0.455000	0.21843	0.232000	0.21100	0.655000	0.94253	CAG		0.403	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		A	108334182	C	A	108334182	3	1	499	1	0	0	0	0	1	0	0	0	610	796	28	4	770	4	ANGPT1	8	108334182	Missense_Mutation	SNP	C	TCGA-CJ-4870-01A-01D-1373-10	8200489	108334182	38029840	17	26990											
MPDZ	8777	hgsc.bcm.edu	37	9	13192294	13192294	+	Splice_Site	SNP	C	C	G			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr9:13192294C>G	ENST00000319217.7	-	15	2051	c.1804G>C	c.(1804-1806)Gta>Cta	p.V602L	MPDZ_ENST00000381022.2_Splice_Site_p.V602L|MPDZ_ENST00000447879.1_Splice_Site_p.V602L|MPDZ_ENST00000536827.1_Splice_Site_p.V602L|MPDZ_ENST00000381015.4_Splice_Site_p.V602L|MPDZ_ENST00000546205.1_Splice_Site_p.V602L|MPDZ_ENST00000541718.1_Splice_Site_p.V602L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	602	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGCCATTTACCTGTGAAAAA	0.308																																																0													64	58	60					9																	13192294		1858	4084	5942	SO:0001630	splice_region_variant	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1804-1G>C	9.37:g.13192294C>G			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.283157	0.80803	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.77	5.77	0.91146	.	0.178185	0.26727	N	0.022811	T	0.69744	0.3145	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.75107	-0.3434	10	0.72032	D	0.01	.	19.9915	0.97366	0.0:1.0:0.0:0.0	.	602;602;602	B7ZMI4;O75970-3;O75970-2	.;.;.	L	602	ENSP00000320006:V602L;ENSP00000439807:V602L;ENSP00000370410:V602L;ENSP00000444151:V602L;ENSP00000415208:V602L;ENSP00000370403:V602L;ENSP00000446358:V602L	ENSP00000320006:V602L	V	-	1	0	MPDZ	13182294	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	7.487000	0.81328	2.723000	0.93209	0.655000	0.94253	GTA		0.308	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	Missense_Mutation	G	13192294	C	G	13192294	5	3	499	1	0	0	0	0	0	0	1	0	9724	521	18	4	4449	4	MPDZ	9	13192294	Splice_Site	SNP	C	TCGA-CJ-4870-01A-01D-1373-10		13192294	128021137	18	26991											
TAF1L	138474	hgsc.bcm.edu;ucsc.edu	37	9	32634567	32634567	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr9:32634567C>A	ENST00000242310.4	-	1	1100	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	337					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAAATTTGGACTCCACAGGAA	0.483																																																0													197	175	183					9																	32634567		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1011G>T	9.37:g.32634567C>A	ENSP00000418379:p.Glu337Asp		Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386273	0.42308	.	.	ENSG00000122728	ENST00000242310	T	0.56444	0.46	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	M	0.73962	2.25	0.37702	D	0.924261	B	0.25850	0.136	B	0.25405	0.06	T	0.35822	-0.9773	10	0.35671	T	0.21	.	3.4007	0.07323	0.0:0.6968:0.0:0.3032	.	337	Q8IZX4	TAF1L_HUMAN	D	337	ENSP00000418379:E337D	ENSP00000418379:E337D	E	-	3	2	TAF1L	32624567	1.000000	0.71417	0.995000	0.50966	0.779000	0.44077	0.485000	0.22324	0.507000	0.28148	0.195000	0.17529	GAG		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			A	32634567	C	A	32634567	3	1	499	1	0	0	0	0	1	0	0	0	15528	564	20	4	4473	4	TAF1L	9	32634567	Missense_Mutation	SNP	C	TCGA-CJ-4870-01A-01D-1373-10	19442273	32634567	108578864	19	26992											
FRMPD1	22844	hgsc.bcm.edu	37	9	37740099	37740099	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr9:37740099A>G	ENST00000539465.1	+	15	2167	c.1574A>G	c.(1573-1575)gAc>gGc	p.D525G	FRMPD1_ENST00000536622.1_Missense_Mutation_p.D347G|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D525G|FRMPD1_ENST00000541302.1_Missense_Mutation_p.D394G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	525						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCCTGCAGTGACTCAGAGGAG	0.547																																																0													99	105	103					9																	37740099		2203	4300	6503	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1574A>G	9.37:g.37740099A>G	ENSP00000444411:p.Asp525Gly		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455872	0.84209	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.23552	2.79;2.79;1.9;1.94	5.65	5.65	0.86999	.	0.165528	0.52532	D	0.000075	T	0.46347	0.1388	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.28808	-1.0032	10	0.24483	T	0.36	-24.6991	13.8157	0.63290	1.0:0.0:0.0:0.0	.	394;525	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	G	525;525;347;394	ENSP00000366995:D525G;ENSP00000444411:D525G;ENSP00000437762:D347G;ENSP00000444804:D394G	ENSP00000366995:D525G	D	+	2	0	FRMPD1	37730099	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	8.032000	0.88838	2.150000	0.67090	0.533000	0.62120	GAC		0.547	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		G	37740099	A	G	37740099	3	3	499	1	0	0	0	0	1	0	0	0	6059	275	10	3	1628	3	FRMPD1	9	37740099	Missense_Mutation	SNP	A	TCGA-CJ-4870-01A-01D-1373-10	5105532	37740099	103473332	20	26993											
DDX31	64794	hgsc.bcm.edu;ucsc.edu	37	9	135538026	135538026	+	Silent	SNP	T	T	C			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr9:135538026T>C	ENST00000372159.3	-	2	598	c.447A>G	c.(445-447)aaA>aaG	p.K149K	DDX31_ENST00000544003.1_Silent_p.K53K|DDX31_ENST00000372153.1_Silent_p.K149K|DDX31_ENST00000438527.3_Silent_p.K20K|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000310532.2_Silent_p.K149K	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	149						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CGTTCCTCCGTTTCGCTGGGG	0.438																																																0													104	98	100					9																	135538026		2203	4300	6503	SO:0001819	synonymous_variant	64794			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.447A>G	9.37:g.135538026T>C			Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Silent	SNP	ENST00000372159.3	37	CCDS6951.1																																																																																				0.438	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		C	135538026	T	C	135538026	2	2	499	1	0	0	0	0	0	0	0	1	4358	1722	60	3		3	DDX31	9	135538026	Silent	SNP	T	TCGA-CJ-4870-01A-01D-1373-10	97797927	135538026	5675405	21	26994											
PTCHD3	374308	hgsc.bcm.edu;ucsc.edu	37	10	27688016	27688016	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr10:27688016C>T	ENST00000438700.3	-	4	1628	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	504	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCTCATAATCCCTGTATATAA	0.388																																																0													98	90	93					10																	27688016		2203	4299	6502	SO:0001583	missense	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1511G>A	10.37:g.27688016C>T	ENSP00000417658:p.Gly504Glu		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560025	0.45590	.	.	ENSG00000182077	ENST00000438700	D	0.97378	-4.36	4.08	4.08	0.47627	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.98429	0.9477	M	0.84948	2.725	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.99636	1.0987	10	0.87932	D	0	-17.1935	16.0519	0.80769	0.0:1.0:0.0:0.0	.	504	Q3KNS1	PTHD3_HUMAN	E	504	ENSP00000417658:G504E	ENSP00000417658:G504E	G	-	2	0	PTCHD3	27728022	0.999000	0.42202	0.808000	0.32385	0.184000	0.23303	4.522000	0.60539	2.100000	0.63781	0.484000	0.47621	GGG		0.388	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		T	27688016	C	T	27688016	3	4	499	1	0	0	0	0	1	0	0	0	12739	623	22	2	796	2	PTCHD3	10	27688016	Missense_Mutation	SNP	C	TCGA-CJ-4870-01A-01D-1373-10		27688016	107846731	22	26995											
DYDC1	143241	hgsc.bcm.edu;ucsc.edu	37	10	82112316	82112316	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr10:82112316T>G	ENST00000372204.3	-	3	206	c.42A>C	c.(40-42)ttA>ttC	p.L14F	DYDC2_ENST00000372198.1_Intron|DYDC2_ENST00000372199.1_5'UTR|DYDC2_ENST00000372197.1_Intron|DYDC1_ENST00000421924.2_Missense_Mutation_p.L14F|DYDC1_ENST00000372202.1_Missense_Mutation_p.L14F	NM_138812.3	NP_620167.1	Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	14										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			GACCTTGAGTTAAACAGGCCC	0.378																																																0													67	66	67					10																	82112316		2203	4300	6503	SO:0001583	missense	143241			BC019250	CCDS7366.1	10q22.3	2006-02-01			ENSG00000170788	ENSG00000170788			23460	protein-coding gene	gene with protein product		615154					Standard	NM_138812		Approved	bA36D19.5, DPY30D1	uc031pwj.1	Q8WWB3	OTTHUMG00000018609	ENST00000372204.3:c.42A>C	10.37:g.82112316T>G	ENSP00000361278:p.Leu14Phe		A8K927|Q5QP03|Q5QP04|Q6WNP4|Q6ZU87	Missense_Mutation	SNP	ENST00000372204.3	37	CCDS7366.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058033	0.55325	.	.	ENSG00000170788	ENST00000372204;ENST00000372202;ENST00000421924;ENST00000454362;ENST00000453477	.	.	.	5.97	0.695	0.18070	Dpy-30 motif (1);	0.000000	0.64402	D	0.000019	T	0.80031	0.4549	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74408	-0.3675	9	0.87932	D	0	-14.3635	0.6525	0.00829	0.1676:0.187:0.1751:0.4703	.	14;14	A8K927;Q8WWB3	.;DYDC1_HUMAN	F	14	.	ENSP00000361276:L14F	L	-	3	2	DYDC1	82102296	0.236000	0.23804	0.999000	0.59377	0.419000	0.31324	-0.558000	0.05978	0.492000	0.27815	0.533000	0.62120	TTA		0.378	DYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049059.1	NM_138812		G	82112316	T	G	82112316	3	3	499	1	0	0	0	0	1	0	0	0	4840	1751	61	5	515	5	DYDC1	10	82112316	Missense_Mutation	SNP	T	TCGA-CJ-4870-01A-01D-1373-10	54424300	82112316	53422431	23	26996											
AFAP1L2	84632	hgsc.bcm.edu	37	10	116057098	116057098	+	Missense_Mutation	SNP	G	G	A	rs201900085		TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr10:116057098G>A	ENST00000304129.4	-	17	2217	c.2188C>T	c.(2188-2190)Cgc>Tgc	p.R730C	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.R730C|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.R783C			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	730					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGGTCCACGCGCCTGCTCTCC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17825	0.001		0.0	False		,,,				2504	0.0															0								G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	53	43	47		2188,2188	4.5	1	10		47	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	AFAP1L2	NM_001001936.1,NM_032550.2	180,180	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	probably-damaging,probably-damaging	730/819,730/815	116057098	4,13002	2203	4300	6503	SO:0001583	missense	84632			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.2188C>T	10.37:g.116057098G>A	ENSP00000303042:p.Arg730Cys		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731924	0.69189	4.54E-4	2.33E-4	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.26373	1.85;1.78;1.74	5.41	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.84326	2.69	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.76;1.0;0.997;1.0;1.0	D;B;D;P;D;D	0.85130	0.983;0.105;0.997;0.802;0.975;0.944	T	0.56062	-0.8041	10	0.87932	D	0	-5.972	9.9451	0.41604	0.0742:0.0:0.7798:0.146	.	783;296;252;758;730;730	F5GZE1;B7Z363;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;AF1L2_HUMAN	C	730;730;757;783	ENSP00000358276:R730C;ENSP00000303042:R730C;ENSP00000444511:R783C	ENSP00000303042:R730C	R	-	1	0	AFAP1L2	116047088	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	4.032000	0.57274	1.298000	0.44778	0.456000	0.33151	CGC		0.592	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		A	116057098	G	A	116057098	3	1	499	1	0	0	0	0	1	0	0	0	355	1087	38	1	280	1	AFAP1L2	10	116057098	Missense_Mutation	SNP	G	TCGA-CJ-4870-01A-01D-1373-10	33944782	116057098	19477649	24	26997											
MUC2	4583	hgsc.bcm.edu	37	11	1082315	1082315	+	Silent	SNP	C	C	T	rs58179195	byFrequency	TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr11:1082315C>T	ENST00000441003.2	+	14	1797	c.1770C>T	c.(1768-1770)ctC>ctT	p.L590L	MUC2_ENST00000359061.5_Silent_p.L590L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	590	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGCTCCCTCCTGAAGAAGA	0.672													C|||	24	0.00479233	0.0166	0.0029	5008	,	,		15365	0.0		0.0	False		,,,				2504	0.0															0										47,3791		1,45,1873	27	30	29		1770	-3	1	11	dbSNP_129	29	0,8182		0,0,4091	no	coding-synonymous	MUC2	NM_002457.2		1,45,5964	TT,TC,CC		0.0,1.2246,0.391		590/2813	1082315	47,11973	1919	4091	6010	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1770C>T	11.37:g.1082315C>T			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.672	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		T	1082315	C	T	1082315	2	4	499	1	0	0	0	0	0	0	0	1	9977	842	30	2		2	MUC2	11	1082315	Silent	SNP	C	TCGA-CJ-4870-01A-01D-1373-10		1082315	133924201	25	26998											
CNGA4	1262	hgsc.bcm.edu;ucsc.edu	37	11	6262905	6262905	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr11:6262905A>C	ENST00000379936.2	+	5	1277	c.1162A>C	c.(1162-1164)Atc>Ctc	p.I388L	CNGA4_ENST00000533426.1_Missense_Mutation_p.I157L	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	388					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGTACATCATCCGAGAGGG	0.542																																																0													278	237	251					11																	6262905		2201	4296	6497	SO:0001583	missense	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1162A>C	11.37:g.6262905A>C	ENSP00000369268:p.Ile388Leu			Missense_Mutation	SNP	ENST00000379936.2	37	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327464	0.81690	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	D;D	0.97791	-4.54;-4.54	5.0	5.0	0.66597	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	L	0.49455	1.56	0.47441	D	0.999428	P;D;P	0.65815	0.561;0.995;0.812	P;D;B	0.67382	0.587;0.951;0.421	D	0.97953	1.0333	10	0.49607	T	0.09	.	13.6811	0.62487	1.0:0.0:0.0:0.0	.	157;388;348	B4DYQ8;Q8IV77;Q8IV77-2	.;CNGA4_HUMAN;.	L	157;388	ENSP00000433399:I157L;ENSP00000369268:I388L	ENSP00000369268:I388L	I	+	1	0	CNGA4	6219481	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.992000	0.76238	2.092000	0.63282	0.533000	0.62120	ATC		0.542	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		C	6262905	A	C	6262905	3	2	499	1	0	0	0	0	1	0	0	0	3601	217	8	5	1180	5	CNGA4	11	6262905	Missense_Mutation	SNP	A	TCGA-CJ-4870-01A-01D-1373-10	5180590	6262905	128743611	26	26999											
ZNF214	7761	hgsc.bcm.edu;ucsc.edu	37	11	7022631	7022631	+	Missense_Mutation	SNP	G	G	C	rs578193586		TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr11:7022631G>C	ENST00000278314.4	-	3	598	c.283C>G	c.(283-285)Ctc>Gtc	p.L95V	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.L95V	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGCTGTGTGAGGTCTTTGGAA	0.448																																					Ovarian(22;251 657 736 21522 46864)											0													343	339	340					11																	7022631		2201	4295	6496	SO:0001583	missense	7761			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.283C>G	11.37:g.7022631G>C	ENSP00000278314:p.Leu95Val		B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.269254	0.01421	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.11169	2.8;2.8	3.9	-1.9	0.07665	.	0.582885	0.12986	N	0.422837	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.43294	-0.9400	10	0.15066	T	0.55	.	3.617	0.08081	0.1601:0.2342:0.4865:0.1193	.	95	Q9UL59	ZN214_HUMAN	V	95	ENSP00000278314:L95V;ENSP00000445373:L95V	ENSP00000278314:L95V	L	-	1	0	ZNF214	6979207	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	0.341000	0.19909	-0.850000	0.04152	-2.086000	0.00376	CTC		0.448	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			C	7022631	G	C	7022631	3	2	499	1	0	0	0	0	1	0	0	0	17775	1000	35	4	1541	4	ZNF214	11	7022631	Missense_Mutation	SNP	G	TCGA-CJ-4870-01A-01D-1373-10	759726	7022631	127983885	27	27000											
C11orf49	84364	hgsc.bcm.edu	37	11	47185748	47185748	+	IGR	SNP	T	T	A	rs548230030		TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr11:47185748T>A	ENST00000524782.1	-	0	2976				C11orf49_ENST00000378618.2_Missense_Mutation_p.V309E|ARFGAP2_ENST00000395449.3_5'Flank	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2						protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTGGAGAGAGTGTCCTCAGCT	0.642																																																0													54	54	54					11																	47185748		2201	4299	6500	SO:0001628	intergenic_variant	79096			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773		11.37:g.47185748T>A			B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	T	9.391	1.075448	0.20227	.	.	ENSG00000149179	ENST00000378618	.	.	.	4.89	2.44	0.29823	.	.	.	.	.	T	0.07007	0.0178	N	0.00146	-1.995	0.27627	N	0.948164	B	0.02656	0.0	B	0.01281	0.0	T	0.25572	-1.0128	8	0.72032	D	0.01	.	4.5128	0.11919	0.1697:0.0943:0.0:0.736	.	309	E9PAX7	.	E	309	.	ENSP00000367881:V309E	V	+	2	0	C11orf49	47142324	0.003000	0.15002	0.807000	0.32361	0.203000	0.24098	-0.074000	0.11450	0.262000	0.21774	0.533000	0.62120	GTG		0.642	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		A	47185748	T	A	47185748	1	1	499	0	1	0	0	0	0	0	0	0	1647	1696	59	5		5	C11orf49	11	47185748	IGR	SNP	T	TCGA-CJ-4870-01A-01D-1373-10	40163117	47185748	87820768	28	27001											
NUP160	23279	hgsc.bcm.edu;ucsc.edu	37	11	47861527	47861527	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr11:47861527C>G	ENST00000378460.2	-	4	662	c.616G>C	c.(616-618)Gca>Cca	p.A206P	NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Missense_Mutation_p.A92P|NUP160_ENST00000530326.1_Missense_Mutation_p.A92P	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	206					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCAGGTACTGCTGGAATTAAC	0.463																																																0													115	109	111					11																	47861527		2201	4298	6499	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.616G>C	11.37:g.47861527C>G	ENSP00000367721:p.Ala206Pro		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059427	0.36373	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.40476	1.03;1.03;1.03	5.44	-3.9	0.04181	.	0.846890	0.10827	N	0.629757	T	0.37571	0.1008	L	0.44542	1.39	0.09310	N	0.999999	B	0.28350	0.208	B	0.42112	0.376	T	0.51679	-0.8675	10	0.27082	T	0.32	.	8.1471	0.31119	0.1035:0.3362:0.0:0.5603	.	206	Q12769	NU160_HUMAN	P	206;92;92	ENSP00000367721:A206P;ENSP00000433590:A92P;ENSP00000432367:A92P	ENSP00000367721:A206P	A	-	1	0	NUP160	47818103	0.000000	0.05858	0.896000	0.35187	0.857000	0.48899	-1.405000	0.02492	-0.616000	0.05671	-0.150000	0.13652	GCA		0.463	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		G	47861527	C	G	47861527	3	3	499	1	0	0	0	0	1	0	0	0	10759	797	28	4	3826	4	NUP160	11	47861527	Missense_Mutation	SNP	C	TCGA-CJ-4870-01A-01D-1373-10	675779	47861527	87144989	29	27002											
RIN1	9610	hgsc.bcm.edu	37	11	66100043	66100043	+	Missense_Mutation	SNP	G	G	A	rs2282532	byFrequency	TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr11:66100043G>A	ENST00000311320.4	-	10	2182	c.2056C>T	c.(2056-2058)Cct>Tct	p.P686S	RIN1_ENST00000530056.1_Missense_Mutation_p.P520S|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Intron	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	686	Ras and 14-3-3 protein binding region.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.P686S(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGGGCCCCAGGGGGCAGGCGG	0.667													G|||	136	0.0271565	0.0794	0.0029	5008	,	,		17291	0.0268		0.001	False		,,,				2504	0.001															1	Substitution - Missense(1)	lung(1)						G	SER/PRO	336,4064	174.8+/-204.3	15,306,1879	85	97	93		2056	4	0.5	11	dbSNP_100	93	1,8587		0,1,4293	yes	missense	RIN1	NM_004292.2	74	15,307,6172	AA,AG,GG		0.0116,7.6364,2.5947	probably-damaging	686/784	66100043	337,12651	2200	4294	6494	SO:0001583	missense	9610			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.2056C>T	11.37:g.66100043G>A	ENSP00000310406:p.Pro686Ser		O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	CCDS31614.1	53	0.024267399267399268	41	0.08333333333333333	0	0.0	10	0.017482517482517484	2	0.002638522427440633	G	19.86	3.905943	0.72868	0.076364	1.16E-4	ENSG00000174791	ENST00000311320;ENST00000530056	T;T	0.16457	2.34;2.34	4.93	3.99	0.46301	Ras-association (3);	0.455727	0.19525	N	0.112192	T	0.02380	0.0073	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.996	D;D;D	0.91635	0.975;0.999;0.952	T	0.00044	-1.2222	10	0.66056	D	0.02	-10.7891	11.2615	0.49085	0.0:0.1856:0.8144:0.0	rs2282532	520;317;686	E9PNR2;B4DW96;Q13671	.;.;RIN1_HUMAN	S	686;520	ENSP00000310406:P686S;ENSP00000432798:P520S	ENSP00000310406:P686S	P	-	1	0	RIN1	65856619	0.993000	0.37304	0.496000	0.27539	0.983000	0.72400	2.207000	0.42788	1.153000	0.42468	0.462000	0.41574	CCT		0.667	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		A	66100043	G	A	66100043	3	1	499	1	0	0	0	0	1	0	0	0	13377	1232	43	2	299	2	RIN1	11	66100043	Missense_Mutation	SNP	G	TCGA-CJ-4870-01A-01D-1373-10	18238516	66100043	68906473	30	27003											
MAML2	84441	hgsc.bcm.edu	37	11	95825797	95825797	+	Silent	SNP	A	A	G	rs7931870	byFrequency	TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr11:95825797A>G	ENST00000524717.1	-	2	2682	c.1398T>C	c.(1396-1398)tcT>tcC	p.S466S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	466					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTCCAGCAGAAGAGGGCAAGG	0.587			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								A|||	2531	0.505391	0.7224	0.464	5008	,	,		19396	0.2014		0.5736	False		,,,				2504	0.4847						Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0								A		3061,1279		1112,837,221	59	62	61		1398	-8.5	0	11	dbSNP_116	61	4951,3611		1461,2029,791	no	coding-synonymous	MAML2	NM_032427.1		2573,2866,1012	GG,GA,AA		42.1747,29.47,37.9011		466/1157	95825797	8012,4890	2170	4281	6451	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1398T>C	11.37:g.95825797A>G			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.587	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			G	95825797	A	G	95825797	2	3	499	1	0	0	0	0	0	0	0	1	9208	59	3	3		3	MAML2	11	95825797	Silent	SNP	A	TCGA-CJ-4870-01A-01D-1373-10	29725754	95825797	39180719	31	27004											
TULP3	7289	hgsc.bcm.edu;ucsc.edu	37	12	3047337	3047337	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr12:3047337C>A	ENST00000448120.2	+	10	1132	c.1081C>A	c.(1081-1083)Ctg>Atg	p.L361M	TULP3_ENST00000397132.2_Missense_Mutation_p.L361M	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	361					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCTGGTTGAGCTGCACAACAA	0.488																																																0													118	109	112					12																	3047337		2203	4300	6503	SO:0001583	missense	7289			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.1081C>A	12.37:g.3047337C>A	ENSP00000410051:p.Leu361Met		B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	CCDS8519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.04|14.04	2.416564|2.416564	0.42918|0.42918	.|.	.|.	ENSG00000078246|ENSG00000078246	ENST00000541678;ENST00000538704|ENST00000228245;ENST00000544943;ENST00000542730;ENST00000448120;ENST00000397132	.|D;D;D	.|0.89681	.|-2.55;-2.55;-2.55	5.2|5.2	2.26|2.26	0.28386|0.28386	.|Tubby, C-terminal (4);	.|0.072303	.|0.56097	.|N	.|0.000025	D|D	0.91988|0.91988	0.7462|0.7462	M|M	0.75884|0.75884	2.315|2.315	0.52501|0.52501	D|D	0.999958|0.999958	.|D;D;D	.|0.71674	.|0.998;0.958;0.997	.|D;P;D	.|0.75484	.|0.986;0.903;0.968	D|D	0.89427|0.89427	0.3714|0.3714	5|10	.|0.54805	.|T	.|0.06	-8.3496|-8.3496	5.7283|5.7283	0.18024|0.18024	0.1415:0.6258:0.0:0.2326|0.1415:0.6258:0.0:0.2326	.|.	.|185;361;361	.|B7Z1E7;O75386;F8WBZ9	.|.;TULP3_HUMAN;.	D|M	37;26|361;88;185;361;361	.|ENSP00000442631:L88M;ENSP00000410051:L361M;ENSP00000380321:L361M	.|ENSP00000228245:L361M	A|L	+|+	2|1	0|2	TULP3|TULP3	2917598|2917598	0.982000|0.982000	0.34865|0.34865	0.950000|0.950000	0.38849|0.38849	0.388000|0.388000	0.30384|0.30384	0.722000|0.722000	0.25925|0.25925	0.539000|0.539000	0.28788|0.28788	-0.144000|-0.144000	0.13903|0.13903	GCT|CTG		0.488	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		A	3047337	C	A	3047337	3	1	499	1	0	0	0	0	1	0	0	0	16780	796	28	4	1119	4	TULP3	12	3047337	Missense_Mutation	SNP	C	TCGA-CJ-4870-01A-01D-1373-10		3047337	130804558	32	27005											
ABCC9	10060	hgsc.bcm.edu;ucsc.edu	37	12	22065833	22065833	+	Silent	SNP	G	G	T			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr12:22065833G>T	ENST00000261201.4	-	6	983	c.984C>A	c.(982-984)acC>acA	p.T328T	ABCC9_ENST00000345162.2_Silent_p.T328T|ABCC9_ENST00000261200.4_Silent_p.T328T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	328	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TCCCATTCTGGGTTTCATTCA	0.368																																																0													78	74	75					12																	22065833		2203	4299	6502	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.984C>A	12.37:g.22065833G>T			O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		T	22065833	G	T	22065833	2	4	499	1	0	0	0	0	0	0	0	1	59	1219	43	4		4	ABCC9	12	22065833	Silent	SNP	G	TCGA-CJ-4870-01A-01D-1373-10	19018496	22065833	111786062	33	27006											
ANAPC7	51434	hgsc.bcm.edu	37	12	110825591	110825591	+	Silent	SNP	A	A	G	rs61754907	byFrequency	TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr12:110825591A>G	ENST00000455511.3	-	5	729	c.729T>C	c.(727-729)taT>taC	p.Y243Y	ANAPC7_ENST00000450008.2_Silent_p.Y243Y|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	243					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GCACAAAAGCATACGCTTTGA	0.473													A|||	65	0.0129792	0.0469	0.0043	5008	,	,		20711	0.0		0.0	False		,,,				2504	0.0															0								A	,	160,4246	109.5+/-147.8	3,154,2046	138	109	119		729,729	2.4	1	12	dbSNP_129	119	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ANAPC7	NM_001137664.1,NM_016238.2	,	3,154,6346	GG,GA,AA		0.0,3.6314,1.2302	,	243/538,243/600	110825591	160,12846	2203	4300	6503	SO:0001819	synonymous_variant	51434			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.729T>C	12.37:g.110825591A>G			Q96AC4|Q96GF4|Q9BU24|Q9NT16	Silent	SNP	ENST00000455511.3	37	CCDS9145.2																																																																																				0.473	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		G	110825591	A	G	110825591	2	3	499	1	0	0	0	0	0	0	0	1	606	224	8	3		3	ANAPC7	12	110825591	Silent	SNP	A	TCGA-CJ-4870-01A-01D-1373-10	88759758	110825591	23026304	34	27007											
ZDHHC22	283576	hgsc.bcm.edu	37	14	77605834	77605834	+	Missense_Mutation	SNP	G	G	C	rs200313152		TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr14:77605834G>C	ENST00000319374.4	-	2	450	c.248C>G	c.(247-249)tCg>tGg	p.S83W	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	83					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		CTTCCTGGCCGAGGCCCCCTG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15094	0.0		0.0	False		,,,				2504	0.0															0								G	TRP/SER	8,4034		0,8,2013	20	23	22		248	3.4	0	14		22	0,8350		0,0,4175	yes	missense	ZDHHC22	NM_174976.2	177	0,8,6188	CC,CG,GG		0.0,0.1979,0.0646	possibly-damaging	83/264	77605834	8,12384	2021	4175	6196	SO:0001583	missense	283576			AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"Zinc fingers, DHHC-type"	20106	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 59"	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.248C>G	14.37:g.77605834G>C	ENSP00000318222:p.Ser83Trp		A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	37	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139232	0.37728	0.001979	0.0	ENSG00000177108	ENST00000319374;ENST00000555389	T	0.57273	0.41	5.3	3.42	0.39159	.	1.196770	0.05929	N	0.634824	T	0.36635	0.0974	N	0.08118	0	0.09310	N	1	P	0.51449	0.945	P	0.45276	0.475	T	0.23013	-1.0200	10	0.66056	D	0.02	.	4.8975	0.13759	0.0828:0.1901:0.5966:0.1305	.	83	Q8N966	ZDH22_HUMAN	W	83	ENSP00000318222:S83W	ENSP00000318222:S83W	S	-	2	0	ZDHHC22	76675587	0.762000	0.28451	0.001000	0.08648	0.465000	0.32709	1.367000	0.34204	0.584000	0.29591	0.561000	0.74099	TCG		0.632	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	NM_174976		C	77605834	G	C	77605834	3	2	499	1	0	0	0	0	1	0	0	0	17618	1059	37	4	551	4	ZDHHC22	14	77605834	Missense_Mutation	SNP	G	TCGA-CJ-4870-01A-01D-1373-10		77605834	29743706	35	27008											
PPP4R4	57718	hgsc.bcm.edu;ucsc.edu	37	14	94697034	94697034	+	Silent	SNP	C	C	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr14:94697034C>A	ENST00000304338.3	+	4	559	c.405C>A	c.(403-405)ctC>ctA	p.L135L	PPP4R4_ENST00000555690.1_3'UTR	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	135					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACTCATTCCTCCAAGTCATTC	0.443																																																0													140	125	130					14																	94697034		2203	4300	6503	SO:0001819	synonymous_variant	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.405C>A	14.37:g.94697034C>A			Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	CCDS9921.1																																																																																				0.443	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		A	94697034	C	A	94697034	2	1	499	1	0	0	0	0	0	0	0	1	12410	842	30	4		4	PPP4R4	14	94697034	Silent	SNP	C	TCGA-CJ-4870-01A-01D-1373-10	17091200	94697034	12652506	36	27009											
SERPINA6	866	hgsc.bcm.edu;ucsc.edu	37	14	94780531	94780531	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr14:94780531T>A	ENST00000341584.3	-	2	601	c.455A>T	c.(454-456)gAg>gTg	p.E152V		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	152					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GACCTCTGACTCATAGTAGTG	0.473																																																0													125	121	122					14																	94780531		2203	4300	6503	SO:0001583	missense	866			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.455A>T	14.37:g.94780531T>A	ENSP00000342850:p.Glu152Val		A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	T	8.665	0.901364	0.17760	.	.	ENSG00000170099	ENST00000341584	D	0.88124	-2.34	5.05	-5.16	0.02857	Serpin domain (3);	1.245440	0.05603	N	0.576766	D	0.88081	0.6341	M	0.86651	2.83	0.09310	N	1	B	0.28378	0.209	B	0.37692	0.256	T	0.77075	-0.2722	10	0.38643	T	0.18	.	6.5286	0.22314	0.0:0.3223:0.2204:0.4573	.	152	P08185	CBG_HUMAN	V	152	ENSP00000342850:E152V	ENSP00000342850:E152V	E	-	2	0	SERPINA6	93850284	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.006000	0.13152	-0.835000	0.04234	-0.313000	0.08912	GAG		0.473	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		A	94780531	T	A	94780531	3	1	499	1	0	0	0	0	1	0	0	0	14099	1551	54	5	778	5	SERPINA6	14	94780531	Missense_Mutation	SNP	T	TCGA-CJ-4870-01A-01D-1373-10	83497	94780531	12569009	37	27010											
ZNF500	26048	hgsc.bcm.edu	37	16	4812665	4812665	+	Silent	SNP	G	G	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr16:4812665G>A	ENST00000219478.6	-	3	806	c.507C>T	c.(505-507)tcC>tcT	p.S169S	ZNF500_ENST00000545009.1_Silent_p.S169S			O60304	ZN500_HUMAN	zinc finger protein 500	169					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S169S(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTTCCTCCAGGGACAGATCCT	0.622																																																1	Substitution - coding silent(1)	large_intestine(1)											84	92	90					16																	4812665		2197	4300	6497	SO:0001819	synonymous_variant	26048			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.507C>T	16.37:g.4812665G>A			A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Silent	SNP	ENST00000219478.6	37	CCDS32383.1																																																																																				0.622	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		A	4812665	G	A	4812665	2	1	499	1	0	0	0	0	0	0	0	1	17953	1219	43	2		2	ZNF500	16	4812665	Silent	SNP	G	TCGA-CJ-4870-01A-01D-1373-10		4812665	85542088	38	27011											
CENPT	80152	hgsc.bcm.edu	37	16	67863680	67863680	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr16:67863680A>G	ENST00000562787.1	-	12	1722	c.1174T>C	c.(1174-1176)Tct>Cct	p.S392P	CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000219172.3_Missense_Mutation_p.S392P|CENPT_ENST00000440851.2_Missense_Mutation_p.S392P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	392	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCCCTGCCAGAGGCATCCTCA	0.602																																																0													97	104	102					16																	67863680		2090	4223	6313	SO:0001583	missense	80152			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1174T>C	16.37:g.67863680A>G	ENSP00000457810:p.Ser392Pro		Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951614	0.53186	.	.	ENSG00000102901	ENST00000440851;ENST00000436104;ENST00000219172	T;T	0.49720	0.77;0.77	5.65	0.42	0.16444	.	0.817091	0.11145	N	0.594820	T	0.40694	0.1127	M	0.73598	2.24	0.09310	N	1	B;B	0.21381	0.055;0.019	B;B	0.18561	0.022;0.022	T	0.36383	-0.9750	10	0.31617	T	0.26	-1.0953	2.3246	0.04220	0.4637:0.3064:0.0823:0.1476	.	150;392	F5H5A6;Q96BT3	.;CENPT_HUMAN	P	392;150;392	ENSP00000400140:S392P;ENSP00000219172:S392P	ENSP00000219172:S392P	S	-	1	0	CENPT	66421181	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.042000	0.13949	0.128000	0.18479	0.533000	0.62120	TCT		0.602	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		G	67863680	A	G	67863680	3	3	499	1	0	0	0	0	1	0	0	0	3244	304	11	3	531	3	CENPT	16	67863680	Missense_Mutation	SNP	A	TCGA-CJ-4870-01A-01D-1373-10	63051015	67863680	22491073	39	27012											
C17orf74	201243	hgsc.bcm.edu	37	17	7330114	7330114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr17:7330114G>A	ENST00000333870.3	+	3	878	c.804G>A	c.(802-804)tgG>tgA	p.W268*	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	268						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCGACTGTGGGGCAATGTGG	0.662																																																0													42	46	45					17																	7330114		2111	4226	6337	SO:0001587	stop_gained	201243			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.804G>A	17.37:g.7330114G>A	ENSP00000328061:p.Trp268*			Nonsense_Mutation	SNP	ENST00000333870.3	37	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	g	16.31	3.088426	0.55968	.	.	ENSG00000184560	ENST00000333870	.	.	.	4.06	1.93	0.25924	.	0.231698	0.22651	N	0.057328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3402	6.9311	0.24442	0.0:0.1923:0.6091:0.1986	.	.	.	.	X	268	.	ENSP00000328061:W268X	W	+	3	0	C17orf74	7270838	0.933000	0.31639	0.975000	0.42487	0.474000	0.32979	0.863000	0.27913	0.417000	0.25871	0.486000	0.48141	TGG		0.662	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		A	7330114	G	A	7330114	4	1	499	1	0	0	0	0	0	1	0	0	1881	1241	43	2	814	2	C17orf74	17	7330114	Nonsense_Mutation	SNP	G	TCGA-CJ-4870-01A-01D-1373-10		7330114	73865096	40	27013											
PLEKHH3	79990	hgsc.bcm.edu	37	17	40825443	40825443	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr17:40825443T>C	ENST00000591022.1	-	5	1009	c.622A>G	c.(622-624)Acc>Gcc	p.T208A	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.T208A|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.T208A	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	208					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGTAGCTGGGTGGGGGTCTCC	0.632																																																0													45	51	49					17																	40825443		2203	4300	6503	SO:0001583	missense	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.622A>G	17.37:g.40825443T>C	ENSP00000468678:p.Thr208Ala		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.685067	0.68157	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	T;T	0.47528	0.84;0.84	5.2	5.2	0.72013	.	0.000000	0.53938	D	0.000059	T	0.58637	0.2136	M	0.61703	1.905	0.45227	D	0.998231	D;D	0.65815	0.995;0.991	P;P	0.59424	0.857;0.723	T	0.54549	-0.8277	10	0.14656	T	0.56	-17.2757	14.1881	0.65620	0.0:0.0:0.0:1.0	.	208;208	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	A	208	ENSP00000293349:T208A;ENSP00000411885:T208A	ENSP00000293349:T208A	T	-	1	0	PLEKHH3	38078969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.832000	0.86757	2.184000	0.69523	0.533000	0.62120	ACC		0.632	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		C	40825443	T	C	40825443	3	2	499	1	0	0	0	0	1	0	0	0	12080	1696	59	3	1795	3	PLEKHH3	17	40825443	Missense_Mutation	SNP	T	TCGA-CJ-4870-01A-01D-1373-10	33495329	40825443	40369767	41	27014											
ANKRD27	84079	hgsc.bcm.edu;ucsc.edu	37	19	33133044	33133044	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr19:33133044T>C	ENST00000306065.4	-	10	948	c.790A>G	c.(790-792)Ata>Gta	p.I264V	ANKRD27_ENST00000587352.1_Missense_Mutation_p.I264V	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	264	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCACGAGGTATGTTAAAGCTG	0.463																																																0													118	107	110					19																	33133044		2203	4300	6503	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.790A>G	19.37:g.33133044T>C	ENSP00000304292:p.Ile264Val		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.261603	0.23051	.	.	ENSG00000105186	ENST00000306065	T	0.29397	1.57	5.43	5.43	0.79202	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (1);	0.000000	0.64402	D	0.000003	T	0.24967	0.0606	L	0.31420	0.93	0.39183	D	0.962813	B	0.27068	0.167	B	0.30646	0.118	T	0.09422	-1.0675	10	0.16420	T	0.52	-25.1089	15.4933	0.75629	0.0:0.0:0.0:1.0	.	264	Q96NW4	ANR27_HUMAN	V	264	ENSP00000304292:I264V	ENSP00000304292:I264V	I	-	1	0	ANKRD27	37824884	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.964000	0.56780	2.064000	0.61679	0.460000	0.39030	ATA		0.463	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		C	33133044	T	C	33133044	3	2	499	1	0	0	0	0	1	0	0	0	655	1464	51	3	2442	3	ANKRD27	19	33133044	Missense_Mutation	SNP	T	TCGA-CJ-4870-01A-01D-1373-10		33133044	25995939	42	27015											
C20orf132	140699	hgsc.bcm.edu	37	20	35776260	35776260	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chr20:35776260A>T	ENST00000400441.3	-	10	1126	c.1127T>A	c.(1126-1128)cTc>cAc	p.L376H	MROH8_ENST00000217333.8_Missense_Mutation_p.L256H|MROH8_ENST00000441008.2_Missense_Mutation_p.L362H			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	261																	GTCCCCACAGAGCAGTGCCAT	0.498																																																0													52	56	55					20																	35776260		1976	4149	6125	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1127T>A	20.37:g.35776260A>T	ENSP00000383291:p.Leu376His		Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.28|19.28	3.797749|3.797749	0.70567|0.70567	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811;ENST00000400440	T;T;T|.	0.05319|.	3.46;3.46;3.46|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.226023|.	0.31312|.	N|.	0.007867|.	T|T	0.61211|0.61211	0.2329|0.2329	L|L	0.50333|0.50333	1.59|1.59	0.35456|0.35456	D|D	0.796104|0.796104	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.999;0.999|.	T|T	0.68830|0.68830	-0.5305|-0.5305	10|5	0.14252|.	T|.	0.57|.	-10.3855|-10.3855	12.3215|12.3215	0.54987|0.54987	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	376;261;386;261|.	E7ETR9;Q9H579;Q6PF12;Q9H579-2|.	.;CT132_HUMAN;.;.|.	H|T	362;376;256|403;407	ENSP00000392144:L362H;ENSP00000383291:L376H;ENSP00000217333:L256H|.	ENSP00000217333:L256H|.	L|S	-|-	2|1	0|0	C20orf132|C20orf132	35209674|35209674	0.994000|0.994000	0.37717|0.37717	0.980000|0.980000	0.43619|0.43619	0.835000|0.835000	0.47333|0.47333	4.207000|4.207000	0.58480|0.58480	2.178000|2.178000	0.69098|0.69098	0.528000|0.528000	0.53228|0.53228	CTC|TCT		0.498	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		T	35776260	A	T	35776260	3	4	499	1	0	0	0	0	1	0	0	0	2088	304	11	5	2073	5	C20orf132	20	35776260	Missense_Mutation	SNP	A	TCGA-CJ-4870-01A-01D-1373-10		35776260	27249260	43	27016											
MAGEB2	4113	hgsc.bcm.edu	37	X	30236766	30236766	+	Silent	SNP	G	G	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chrX:30236766G>A	ENST00000378988.4	+	2	170	c.69G>A	c.(67-69)cgG>cgA	p.R23R		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	23										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						ATGAGACCCGGGGTCTCAATG	0.572																																																0													37	36	36					X																	30236766		2202	4300	6502	SO:0001819	synonymous_variant	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.69G>A	X.37:g.30236766G>A			O75860	Silent	SNP	ENST00000378988.4	37	CCDS14219.1																																																																																				0.572	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		A	30236766	G	A	30236766	2	1	499	1	0	0	0	0	0	0	0	1	9178	1219	43	2		2	MAGEB2	23	30236766	Silent	SNP	G	TCGA-CJ-4870-01A-01D-1373-10		30236766	125033794	44	27017											
TRO	7216	hgsc.bcm.edu	37	X	54957281	54957281	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chrX:54957281T>C	ENST00000173898.7	+	12	4236	c.4124T>C	c.(4123-4125)gTt>gCt	p.V1375A	TRO_ENST00000420798.2_Missense_Mutation_p.V906A|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.V978A|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1375	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGCACTGGTGTTGGCTTCTGC	0.592																																																0													81	83	82					X																	54957281		2057	4178	6235	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4124T>C	X.37:g.54957281T>C	ENSP00000173898:p.Val1375Ala		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	T	0.153	-1.089759	0.01873	.	.	ENSG00000067445	ENST00000173898;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T	0.04603	4.26;3.59;3.92	2.96	1.05	0.20165	.	.	.	.	.	T	0.01489	0.0048	N	0.01352	-0.895	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.25884	0.064;0.064	T	0.47995	-0.9073	9	0.06757	T	0.87	.	5.8111	0.18467	0.0:0.6819:0.0:0.3181	.	978;1375	B1AKE9;Q12816	.;TROP_HUMAN	A	1375;301;906;978	ENSP00000173898:V1375A;ENSP00000405126:V906A;ENSP00000364181:V978A	ENSP00000173898:V1375A	V	+	2	0	TRO	54974006	0.005000	0.15991	0.002000	0.10522	0.096000	0.18686	-0.235000	0.09016	0.397000	0.25310	0.153000	0.16174	GTT		0.592	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		C	54957281	T	C	54957281	3	2	499	1	0	0	0	0	1	0	0	0	16579	1725	60	3	4166	3	TRO	23	54957281	Missense_Mutation	SNP	T	TCGA-CJ-4870-01A-01D-1373-10	24720515	54957281	100313279	45	27018											
P2RY10	27334	hgsc.bcm.edu;ucsc.edu	37	X	78216453	78216453	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chrX:78216453C>T	ENST00000171757.2	+	4	716	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.R146C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.R146G(1)|p.R146C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AGACTGGAAGCGTAGGTACGA	0.488																																																2	Substitution - Missense(2)	lung(1)|breast(1)											105	95	98					X																	78216453		2203	4300	6503	SO:0001583	missense	27334			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.436C>T	X.37:g.78216453C>T	ENSP00000171757:p.Arg146Cys		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949730	0.34377	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.73047	-0.71;-0.71	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.129634	0.52532	D	0.000064	T	0.78220	0.4249	M	0.90705	3.14	0.58432	D	0.999996	P	0.39831	0.69	B	0.41236	0.351	D	0.83716	0.0190	10	0.66056	D	0.02	.	15.1859	0.73002	0.0:1.0:0.0:0.0	.	146	O00398	P2Y10_HUMAN	C	146	ENSP00000443138:R146C;ENSP00000171757:R146C	ENSP00000171757:R146C	R	+	1	0	P2RY10	78103109	1.000000	0.71417	0.999000	0.59377	0.002000	0.02628	4.557000	0.60782	2.142000	0.66516	0.287000	0.19450	CGT		0.488	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			T	78216453	C	T	78216453	3	4	499	1	0	0	0	0	1	0	0	0	11349	768	27	1	438	1	P2RY10	23	78216453	Missense_Mutation	SNP	C	TCGA-CJ-4870-01A-01D-1373-10	23259172	78216453	77054107	46	27019											
CCDC160	347475	hgsc.bcm.edu;ucsc.edu	37	X	133378953	133378953	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4870-01A-01D-1373-10	TCGA-CJ-4870-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	72fffb6f-a58b-4f05-87fe-ccd28b4babff	80217c32-1ac8-4909-843d-2e351684dc95	g.chrX:133378953C>A	ENST00000517294.1	+	3	506	c.123C>A	c.(121-123)agC>agA	p.S41R	CCDC160_ENST00000370809.4_Missense_Mutation_p.S41R			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	41										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						CAGATAGCAGCAAGGGAATGG	0.333																																																0													25	23	24					X																	133378953		1807	4067	5874	SO:0001583	missense	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.123C>A	X.37:g.133378953C>A	ENSP00000427951:p.Ser41Arg			Missense_Mutation	SNP	ENST00000517294.1	37	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	C	5.068	0.198215	0.09652	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.16	1.79	0.24919	.	1.104550	0.07021	N	0.826822	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.26416	0.069	T	0.30238	-0.9985	9	0.30078	T	0.28	1.2662	7.8807	0.29621	0.5863:0.286:0.1278:0.0	.	41	A6NGH7	CC160_HUMAN	R	41	.	ENSP00000359845:S41R	S	+	3	2	CCDC160	133206619	0.003000	0.15002	0.019000	0.16419	0.004000	0.04260	0.141000	0.16076	0.460000	0.27045	-0.213000	0.12676	AGC		0.333	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357		A	133378953	C	A	133378953	3	1	499	1	0	0	0	0	1	0	0	0	2794	709	25	4	125	4	CCDC160	23	133378953	Missense_Mutation	SNP	C	TCGA-CJ-4870-01A-01D-1373-10	55162500	133378953	21891607	47	27020											
CAPZB	832	hgsc.bcm.edu	37	1	19683945	19683945	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr1:19683945A>C	ENST00000375142.1	-	5	488	c.442T>G	c.(442-444)Tgg>Ggg	p.W148G	CAPZB_ENST00000433834.1_Missense_Mutation_p.W177G|CAPZB_ENST00000401084.2_Missense_Mutation_p.W148G|CAPZB_ENST00000264203.3_Missense_Mutation_p.W174G|CAPZB_ENST00000264202.6_Missense_Mutation_p.W148G|CAPZB_ENST00000375144.1_Missense_Mutation_p.W136G	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	148					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		ATGGAATCCCAGCAGCCTTTG	0.552																																																0													107	100	102					1																	19683945		1934	4131	6065	SO:0001583	missense	832			U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.442T>G	1.37:g.19683945A>C	ENSP00000364284:p.Trp148Gly		Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	ENST00000375142.1	37	CCDS55579.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454413	0.84209	.	.	ENSG00000077549	ENST00000401084;ENST00000264203;ENST00000375144;ENST00000375142;ENST00000433834;ENST00000375145;ENST00000264202;ENST00000413711;ENST00000457768	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.87450	0.6180	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	1.0;0.987;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.998;1.0	D	0.91247	0.5026	9	0.87932	D	0	-7.5595	15.014	0.71570	1.0:0.0:0.0:0.0	.	177;174;148;136	B1AK88;B1AK85;P47756-2;B1AK87	.;.;.;.	G	148;174;136;148;177;210;148;136;120	.	ENSP00000264202:W148G	W	-	1	0	CAPZB	19556532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.737000	0.91562	2.225000	0.72522	0.460000	0.39030	TGG		0.552	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			C	19683945	A	C	19683945	3	2	500	1	0	0	0	0	1	0	0	0	2645	188	7	5	396	5	CAPZB	1	19683945	Missense_Mutation	SNP	A	TCGA-CJ-4871-01A-01D-1373-10		19683945	229566676	1	27021											
CSMD2	114784	hgsc.bcm.edu	37	1	34312501	34312501	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr1:34312501G>T	ENST00000373381.4	-	6	1193	c.1017C>A	c.(1015-1017)ttC>ttA	p.F339L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATTGGGCACTGAATCCGCGCT	0.607																																																0													70	63	66					1																	34312501		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1017C>A	1.37:g.34312501G>T	ENSP00000362479:p.Phe339Leu		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	18.24	3.581242	0.65992	.	.	ENSG00000121904	ENST00000373381	T	0.66638	-0.22	4.82	4.82	0.62117	CUB (5);	0.000000	0.85682	D	0.000000	D	0.86016	0.5832	H	0.98256	4.185	0.80722	D	1	B;D	0.71674	0.002;0.998	B;D	0.67548	0.02;0.952	D	0.88180	0.2870	10	0.48119	T	0.1	.	9.404	0.38451	0.0988:0.0:0.9012:0.0	.	299;339	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	339	ENSP00000362479:F339L	ENSP00000241312:F299L	F	-	3	2	CSMD2	34085088	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.140000	0.50585	2.378000	0.81104	0.561000	0.74099	TTC		0.607	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		T	34312501	G	T	34312501	3	4	500	1	0	0	0	0	1	0	0	0	3947	1281	45	4	9822	4	CSMD2	1	34312501	Missense_Mutation	SNP	G	TCGA-CJ-4871-01A-01D-1373-10	14628556	34312501	214938120	2	27022											
ZSWIM5	57643	hgsc.bcm.edu;ucsc.edu	37	1	45484291	45484291	+	Silent	SNP	G	G	A			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr1:45484291G>A	ENST00000359600.5	-	14	3598	c.3393C>T	c.(3391-3393)agC>agT	p.S1131S		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1131						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGTGGCGAGGGCTGATGTGTG	0.527											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													196	191	192					1																	45484291		2127	4252	6379	SO:0001819	synonymous_variant	57643			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3393C>T	1.37:g.45484291G>A		932	Q5SXQ9	Silent	SNP	ENST00000359600.5	37	CCDS41319.1																																																																																				0.527	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		A	45484291	G	A	45484291	2	1	500	1	0	0	0	0	0	0	0	1	18249	1194	42	2		2	ZSWIM5	1	45484291	Silent	SNP	G	TCGA-CJ-4871-01A-01D-1373-10	11171790	45484291	203766330	3	27023											
ATP1A1	476	hgsc.bcm.edu;ucsc.edu	37	1	116936278	116936278	+	Silent	SNP	T	T	C			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr1:116936278T>C	ENST00000295598.5	+	12	1845	c.1593T>C	c.(1591-1593)gaT>gaC	p.D531D	ATP1A1_ENST00000537345.1_Silent_p.D531D|ATP1A1_ENST00000369496.4_Silent_p.D500D	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	531					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGCCCCTGGATGAGGAGCTGA	0.582																																																0													61	66	64					1																	116936278		2203	4300	6503	SO:0001819	synonymous_variant	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1593T>C	1.37:g.116936278T>C			B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	CCDS887.1																																																																																				0.582	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		C	116936278	T	C	116936278	2	2	500	1	0	0	0	0	0	0	0	1	1128	1461	51	3		3	ATP1A1	1	116936278	Silent	SNP	T	TCGA-CJ-4871-01A-01D-1373-10	71451987	116936278	132314343	4	27024											
CRB1	23418	hgsc.bcm.edu;ucsc.edu	37	1	197396821	197396821	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr1:197396821A>T	ENST00000367400.3	+	7	2501	c.2366A>T	c.(2365-2367)aAt>aTt	p.N789I	CRB1_ENST00000535699.1_Missense_Mutation_p.N720I|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.N270I|CRB1_ENST00000367399.2_Missense_Mutation_p.N677I|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367397.1_Missense_Mutation_p.N170I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	789	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		Missing (in early-onset retinal dystrophy; probable disease-associated mutation). {ECO:0000269|PubMed:22065545}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTGTTCTTAATGATGGAAAT	0.373																																																0													35	36	36					1																	197396821		2203	4298	6501	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2366A>T	1.37:g.197396821A>T	ENSP00000356370:p.Asn789Ile		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178607	0.38511	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.46	2.07	0.26955	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.83308	0.5226	L	0.57536	1.79	0.43292	D	0.995274	D;D;P;P	0.55385	0.971;0.958;0.874;0.896	P;P;P;P	0.53861	0.736;0.563;0.592;0.522	T	0.80979	-0.1140	9	0.56958	D	0.05	.	7.0968	0.25315	0.4858:0.0:0.5142:0.0	.	720;677;438;789	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	I	720;789;677;270;170;438	ENSP00000438786:N720I;ENSP00000356370:N789I;ENSP00000356369:N677I;ENSP00000444556:N270I;ENSP00000356367:N170I	ENSP00000356367:N170I	N	+	2	0	CRB1	195663444	0.723000	0.28027	0.822000	0.32727	0.011000	0.07611	0.796000	0.26986	0.641000	0.30601	-0.248000	0.11899	AAT		0.373	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		T	197396821	A	T	197396821	3	4	500	1	0	0	0	0	1	0	0	0	3850	101	4	5	2392	5	CRB1	1	197396821	Missense_Mutation	SNP	A	TCGA-CJ-4871-01A-01D-1373-10	80460543	197396821	51853800	5	27025											
HEATR1	55127	hgsc.bcm.edu;ucsc.edu	37	1	236714231	236714231	+	Missense_Mutation	SNP	G	G	C	rs145439234		TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr1:236714231G>C	ENST00000366582.3	-	45	6520	c.6406C>G	c.(6406-6408)Ctg>Gtg	p.L2136V	LGALS8_ENST00000366584.4_3'UTR|LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.L2055V|RP11-385F5.4_ENST00000433131.1_RNA	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2136					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGCTCTCCCAGGACAGTTTCC	0.338																																																0													116	120	119					1																	236714231		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6406C>G	1.37:g.236714231G>C	ENSP00000355541:p.Leu2136Val		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299365	0.40694	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.10382	2.88;2.95	5.36	1.13	0.20643	Armadillo-like helical (1);	0.150982	0.44902	D	0.000412	T	0.36496	0.0969	M	0.90870	3.155	0.80722	D	1	P;D	0.89917	0.757;1.0	B;D	0.83275	0.336;0.996	T	0.34428	-0.9829	10	0.56958	D	0.05	.	10.8406	0.46712	0.3146:0.0:0.6854:0.0	.	2055;2136	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	V	2136;2055	ENSP00000355541:L2136V;ENSP00000355540:L2055V	ENSP00000355540:L2055V	L	-	1	2	HEATR1	234780854	0.850000	0.29656	0.378000	0.26068	0.443000	0.32047	0.993000	0.29680	0.349000	0.23975	0.655000	0.94253	CTG		0.338	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		C	236714231	G	C	236714231	3	2	500	1	0	0	0	0	1	0	0	0	7029	991	35	4	32	4	HEATR1	1	236714231	Missense_Mutation	SNP	G	TCGA-CJ-4871-01A-01D-1373-10	39317410	236714231	12536390	6	27026											
STK11IP	114790	hgsc.bcm.edu	37	2	220467482	220467482	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr2:220467482G>T	ENST00000456909.1	+	7	692	c.602G>T	c.(601-603)tGt>tTt	p.C201F	STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Missense_Mutation_p.C212F			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	212					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCAGGACTGTCAGGGATTC	0.512																																																0													111	116	114					2																	220467482		2082	4204	6286	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.602G>T	2.37:g.220467482G>T	ENSP00000389383:p.Cys201Phe		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37		.	.	.	.	.	.	.	.	.	.	G	22.0	4.227901	0.79576	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.20332	2.08;2.08	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	N	0.20530	0.585	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.957;0.999;0.998	T	0.28522	-1.0041	10	0.87932	D	0	-13.4032	17.1754	0.86840	0.0:0.0:1.0:0.0	.	212;212;212;212	B4DUE4;B4DII2;Q8N1F8-2;Q8N1F8	.;.;.;S11IP_HUMAN	F	201;212;212	ENSP00000389383:C201F;ENSP00000295641:C212F	ENSP00000295641:C212F	C	+	2	0	STK11IP	220175726	1.000000	0.71417	0.965000	0.40720	0.970000	0.65996	8.148000	0.89630	2.383000	0.81215	0.650000	0.86243	TGT		0.512	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		T	220467482	G	T	220467482	3	4	500	1	0	0	0	0	1	0	0	0	15293	1377	48	4	661	4	STK11IP	2	220467482	Missense_Mutation	SNP	G	TCGA-CJ-4871-01A-01D-1373-10		220467482	22731891	7	27027											
DOCK10	55619	hgsc.bcm.edu	37	2	225684201	225684201	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr2:225684201T>A	ENST00000258390.7	-	29	3296	c.3229A>T	c.(3229-3231)Aac>Tac	p.N1077Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.N1071Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1077					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATGTAATTGTTGACCATCTTA	0.333																																																0													127	121	123					2																	225684201		1864	4099	5963	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3229A>T	2.37:g.225684201T>A	ENSP00000258390:p.Asn1077Tyr		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.779154	0.90195	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.68181	1.9;-0.31	6.15	6.15	0.99193	.	0.043240	0.85682	D	0.000000	T	0.74619	0.3740	L	0.49571	1.57	0.43740	D	0.996238	D;D	0.62365	0.991;0.984	P;P	0.56700	0.804;0.804	T	0.76940	-0.2773	10	0.87932	D	0	.	16.7886	0.85580	0.0:0.0:0.0:1.0	.	1077;1071	Q96BY6;B3FL70	DOC10_HUMAN;.	Y	1071;1077	ENSP00000386694:N1071Y;ENSP00000258390:N1077Y	ENSP00000258390:N1077Y	N	-	1	0	DOCK10	225392445	1.000000	0.71417	0.955000	0.39395	0.975000	0.68041	6.692000	0.74578	2.363000	0.80096	0.523000	0.50628	AAC		0.333	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			A	225684201	T	A	225684201	3	1	500	1	0	0	0	0	1	0	0	0	4687	1812	63	5	3443	5	DOCK10	2	225684201	Missense_Mutation	SNP	T	TCGA-CJ-4871-01A-01D-1373-10	5216719	225684201	17515172	8	27028											
SH3BP4	23677	hgsc.bcm.edu	37	2	235950909	235950909	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr2:235950909G>T	ENST00000409212.1	+	4	2003	c.1496G>T	c.(1495-1497)tGt>tTt	p.C499F	SH3BP4_ENST00000344528.4_Missense_Mutation_p.C499F|SH3BP4_ENST00000392011.2_Missense_Mutation_p.C499F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	499					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGGCATGACTGTGCCCCAAAG	0.567																																																0													76	79	78					2																	235950909		2203	4300	6503	SO:0001583	missense	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1496G>T	2.37:g.235950909G>T	ENSP00000386862:p.Cys499Phe		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161429	0.57368	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.09445	2.98;2.98;2.98	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.04281	-1.0963	10	0.12766	T	0.61	-11.6078	17.259	0.87064	0.0:0.0:1.0:0.0	.	499;499	A8K594;Q9P0V3	.;SH3B4_HUMAN	F	499	ENSP00000375867:C499F;ENSP00000386862:C499F;ENSP00000340237:C499F	ENSP00000340237:C499F	C	+	2	0	SH3BP4	235615648	1.000000	0.71417	0.927000	0.36925	0.965000	0.64279	9.458000	0.97634	2.411000	0.81874	0.655000	0.94253	TGT		0.567	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			T	235950909	G	T	235950909	3	4	500	1	0	0	0	0	1	0	0	0	14252	1377	48	4	1502	4	SH3BP4	2	235950909	Missense_Mutation	SNP	G	TCGA-CJ-4871-01A-01D-1373-10	10266708	235950909	7248464	9	27029											
COL7A1	1294	hgsc.bcm.edu	37	3	48623284	48623284	+	Silent	SNP	C	C	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr3:48623284C>T	ENST00000328333.8	-	29	3872	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q	COL7A1_ENST00000454817.1_Silent_p.Q1255Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1255	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q1255H(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTTCCCCCTTCTGGCCCTGGG	0.582																																																1	Substitution - Missense(1)	ovary(1)											147	156	153					3																	48623284		2203	4300	6503	SO:0001819	synonymous_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3765G>A	3.37:g.48623284C>T			Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																				0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		T	48623284	C	T	48623284	2	4	500	1	0	0	0	0	0	0	0	1	3706	912	32	2		2	COL7A1	3	48623284	Silent	SNP	C	TCGA-CJ-4871-01A-01D-1373-10		48623284	149399146	10	27030											
NPRL2	10641	hgsc.bcm.edu	37	3	50387111	50387111	+	Silent	SNP	A	A	G			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr3:50387111A>G	ENST00000232501.3	-	3	762	c.324T>C	c.(322-324)taT>taC	p.Y108Y	NPRL2_ENST00000493465.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	108	Interaction with PDPK1.				negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTGGTCAGATAGCCAGCCA	0.557																																																0													109	111	110					3																	50387111		2202	4300	6502	SO:0001819	synonymous_variant	10641			AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.324T>C	3.37:g.50387111A>G			A8K831|Q6FGS2|Q9Y249|Q9Y497	Silent	SNP	ENST00000232501.3	37	CCDS2826.1																																																																																				0.557	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		G	50387111	A	G	50387111	2	3	500	1	0	0	0	0	0	0	0	1	10599	340	12	3		3	NPRL2	3	50387111	Silent	SNP	A	TCGA-CJ-4871-01A-01D-1373-10	1763827	50387111	147635319	11	27031											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52643504	52643504	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr3:52643504T>A	ENST00000296302.7	-	16	2393	c.2392A>T	c.(2392-2394)Aga>Tga	p.R798*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R798*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R766*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R813*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R798*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R798*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R813*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R798*			Q86U86	PB1_HUMAN	polybromo 1	798	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGTAGCATCTTCCCTCATCA	0.413			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													120	116	117					3																	52643504		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2392A>T	3.37:g.52643504T>A	ENSP00000296302:p.Arg798*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	40	8.362139	0.98777	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.17	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.9432	12.3698	0.55248	0.0:0.0:0.2671:0.7329	.	.	.	.	X	766;798;798;798;798;798;813;813;798;757	.	ENSP00000296302:R798X	R	-	1	2	PBRM1	52618544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.604000	0.54081	1.130000	0.42092	0.533000	0.62120	AGA		0.413	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52643504	T	A	52643504	4	1	500	1	0	0	0	0	0	1	0	0	11493	1617	56	5	2568	5	PBRM1	3	52643504	Nonsense_Mutation	SNP	T	TCGA-CJ-4871-01A-01D-1373-10	2256393	52643504	145378926	12	27032											
FRYL	285527	hgsc.bcm.edu;ucsc.edu	37	4	48542918	48542918	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr4:48542918C>G	ENST00000503238.1	-	43	5746	c.5747G>C	c.(5746-5748)gGa>gCa	p.G1916A	FRYL_ENST00000358350.4_Missense_Mutation_p.G1916A|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.G1916A|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1916					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTGAGTTGTCCAGTGCTTTT	0.353																																																0													127	119	121					4																	48542918		1861	4103	5964	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5747G>C	4.37:g.48542918C>G	ENSP00000426064:p.Gly1916Ala		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.365308|4.365308	0.82463|0.82463	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.23754|.	1.89;1.89;1.89|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78502|0.78502	0.4293|0.4293	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.96;0.976|.	D;P;P|.	0.83275|.	0.996;0.744;0.869|.	T|T	0.75317|0.75317	-0.3360|-0.3360	10|5	0.20519|.	T|.	0.43|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	746;1916;1916|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	A|C	1916|785	ENSP00000426064:G1916A;ENSP00000351113:G1916A;ENSP00000441114:G1916A|.	ENSP00000351113:G1916A|.	G|W	-|-	2|3	0|0	FRYL|FRYL	48237675|48237675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	7.226000|7.226000	0.78060|0.78060	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.353	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			G	48542918	C	G	48542918	3	3	500	1	0	0	0	0	1	0	0	0	6066	855	30	4	3370	4	FRYL	4	48542918	Missense_Mutation	SNP	C	TCGA-CJ-4871-01A-01D-1373-10		48542918	142611358	13	27033											
PDZD2	23037	hgsc.bcm.edu;ucsc.edu	37	5	32061215	32061215	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr5:32061215T>C	ENST00000438447.1	+	14	2814	c.2426T>C	c.(2425-2427)gTc>gCc	p.V809A	PDZD2_ENST00000282493.3_Missense_Mutation_p.V809A			O15018	PDZD2_HUMAN	PDZ domain containing 2	809	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTTCGCCTTGTCATCGGCCGG	0.517																																																0													89	73	78					5																	32061215		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2426T>C	5.37:g.32061215T>C	ENSP00000402033:p.Val809Ala		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	T	31	5.072209	0.93950	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.28255	1.62;1.62	5.76	5.76	0.90799	PDZ/DHR/GLGF (3);	0.000000	0.43110	D	0.000604	T	0.47210	0.1433	L	0.46741	1.465	0.45580	D	0.998521	D;D	0.71674	0.977;0.998	P;D	0.65573	0.846;0.936	T	0.44221	-0.9342	10	0.66056	D	0.02	.	14.0391	0.64663	0.0:0.0:0.0:1.0	.	635;809	B4E3P2;O15018	.;PDZD2_HUMAN	A	809	ENSP00000402033:V809A;ENSP00000282493:V809A	ENSP00000282493:V809A	V	+	2	0	PDZD2	32096972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.521000	0.81832	2.202000	0.70862	0.533000	0.62120	GTC		0.517	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			C	32061215	T	C	32061215	3	2	500	1	0	0	0	0	1	0	0	0	11703	1667	58	3	2476	3	PDZD2	5	32061215	Missense_Mutation	SNP	T	TCGA-CJ-4871-01A-01D-1373-10		32061215	148854045	14	27034											
C5orf23	4883	hgsc.bcm.edu;ucsc.edu	37	5	32789785	32789785	+	3'UTR	SNP	A	A	G			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr5:32789785A>G	ENST00000265074.8	+	0	5303				AC026703.1_ENST00000326958.1_Missense_Mutation_p.K93R	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTTTGCCCCAAATGCATCACT	0.408																																																0													153	124	134					5																	32789785		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3334A>G	5.37:g.32789785A>G			A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.620697	0.28889	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.36	-3.03	0.05429	.	.	.	.	.	T	0.36663	0.0975	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45454	-0.9260	5	0.87932	D	0	.	5.5232	0.16943	0.346:0.4695:0.1846:0.0	.	.	.	.	R	93	.	ENSP00000318340:K93R	K	+	2	0	AC026703.1	32825542	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	0.504000	0.22626	-0.480000	0.06803	0.482000	0.46254	AAA		0.408	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		G	32789785	A	G	32789785	1	3	500	0	1	0	0	0	0	0	0	0	2288	14	1	3		3	C5orf23	5	32789785	3'UTR	SNP	A	TCGA-CJ-4871-01A-01D-1373-10	728570	32789785	148125475	15	27035											
HSPA4	3308	hgsc.bcm.edu	37	5	132424179	132424179	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr5:132424179T>A	ENST00000304858.2	+	9	1358	c.1069T>A	c.(1069-1071)Ttt>Att	p.F357I	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	357					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATCAGCAAATTTTTCGGTAA	0.353																																					Colon(114;1299 1588 6063 12302 48757)											0													120	111	114					5																	132424179		2203	4300	6503	SO:0001583	missense	3308			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1069T>A	5.37:g.132424179T>A	ENSP00000302961:p.Phe357Ile		O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511070	0.85389	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.01005	5.45	6.02	4.86	0.63082	.	0.043381	0.85682	D	0.000000	T	0.01592	0.0051	L	0.59967	1.855	0.80722	D	1	P	0.38300	0.626	B	0.37550	0.253	T	0.64385	-0.6420	10	0.48119	T	0.1	-12.9748	11.9655	0.53033	0.0:0.0672:0.0:0.9328	.	357	P34932	HSP74_HUMAN	I	357	ENSP00000302961:F357I	ENSP00000302961:F357I	F	+	1	0	HSPA4	132452078	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.104000	0.41587	0.528000	0.53228	TTT		0.353	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		A	132424179	T	A	132424179	3	1	500	1	0	0	0	0	1	0	0	0	7414	1493	52	5	1103	5	HSPA4	5	132424179	Missense_Mutation	SNP	T	TCGA-CJ-4871-01A-01D-1373-10	99634394	132424179	48491081	16	27036											
KCTD16	57528	hgsc.bcm.edu	37	5	143586839	143586839	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr5:143586839A>G	ENST00000507359.3	+	2	1653	c.562A>G	c.(562-564)Aga>Gga	p.R188G	KCTD16_ENST00000512467.1_Missense_Mutation_p.R188G	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	188					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CAAGTTTCGGAGAGTTCCCCG	0.522																																																0													61	64	63					5																	143586839		2203	4300	6503	SO:0001583	missense	57528			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.562A>G	5.37:g.143586839A>G	ENSP00000426548:p.Arg188Gly		Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865825	0.32977	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.55588	0.51;0.51	5.69	1.84	0.25277	.	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	M	0.71036	2.16	0.52501	D	0.99995	B	0.06786	0.001	B	0.04013	0.001	T	0.41106	-0.9527	10	0.59425	D	0.04	.	8.0756	0.30714	0.6783:0.2555:0.0661:0.0	.	188	Q68DU8	KCD16_HUMAN	G	188	ENSP00000424151:R188G;ENSP00000426548:R188G	ENSP00000426548:R188G	R	+	1	2	KCTD16	143567032	1.000000	0.71417	0.762000	0.31397	0.997000	0.91878	4.003000	0.57061	0.079000	0.16929	0.459000	0.35465	AGA		0.522	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		G	143586839	A	G	143586839	3	3	500	1	0	0	0	0	1	0	0	0	8105	296	11	3	564	3	KCTD16	5	143586839	Missense_Mutation	SNP	A	TCGA-CJ-4871-01A-01D-1373-10	11162660	143586839	37328421	17	27037											
SEMA3A	10371	hgsc.bcm.edu	37	7	83764187	83764187	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr7:83764187C>T	ENST00000265362.4	-	2	507	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.E65K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	65	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTACTCCGTTCCTCATCCAAA	0.383																																																0													114	107	109					7																	83764187		2203	4300	6503	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.193G>A	7.37:g.83764187C>T	ENSP00000265362:p.Glu65Lys			Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	c	31	5.100831	0.94245	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.10763	2.84;2.84;2.84	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.090555	0.85682	D	0.000000	T	0.28433	0.0703	L	0.46947	1.48	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.01169	-1.1430	10	0.62326	D	0.03	.	18.5015	0.90882	0.0:1.0:0.0:0.0	.	65	Q14563	SEM3A_HUMAN	K	65	ENSP00000265362:E65K;ENSP00000415260:E65K;ENSP00000391900:E65K	ENSP00000265362:E65K	E	-	1	0	SEMA3A	83602123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.388000	0.79795	2.434000	0.82447	0.467000	0.42956	GAA		0.383	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		T	83764187	C	T	83764187	3	4	500	1	0	0	0	0	1	0	0	0	14030	864	30	2	2186	2	SEMA3A	7	83764187	Missense_Mutation	SNP	C	TCGA-CJ-4871-01A-01D-1373-10		83764187	75374476	18	27038											
SNAI2	6591	hgsc.bcm.edu;ucsc.edu	37	8	49833764	49833764	+	Missense_Mutation	SNP	C	C	T	rs560825840		TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr8:49833764C>T	ENST00000396822.1	-	2	418	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	SNAI2_ENST00000020945.1_Missense_Mutation_p.E21K			O43623	SNAI2_HUMAN	snail family zinc finger 2	21					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GTGTCCAGTTCGCTGTAGTTT	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.0															0													153	152	153					8																	49833764		2203	4300	6503	SO:0001583	missense	6591			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.61G>A	8.37:g.49833764C>T	ENSP00000380034:p.Glu21Lys		B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734422	0.69189	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.12039	2.72;2.72	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	M	0.84326	2.69	0.80722	D	1	D	0.69078	0.997	P	0.53450	0.726	T	0.24154	-1.0168	9	.	.	.	-13.8947	18.7632	0.91862	0.0:1.0:0.0:0.0	.	21	O43623	SNAI2_HUMAN	K	21	ENSP00000020945:E21K;ENSP00000380034:E21K	.	E	-	1	0	SNAI2	49996317	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.541000	0.60670	2.425000	0.82216	0.313000	0.20887	GAA		0.473	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		T	49833764	C	T	49833764	3	4	500	1	0	0	0	0	1	0	0	0	14833	893	31	1	757	1	SNAI2	8	49833764	Missense_Mutation	SNP	C	TCGA-CJ-4871-01A-01D-1373-10		49833764	96530258	19	27039											
ZNF483	158399	hgsc.bcm.edu;ucsc.edu	37	9	114304001	114304001	+	Silent	SNP	A	A	G			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr9:114304001A>G	ENST00000309235.5	+	6	944	c.786A>G	c.(784-786)gaA>gaG	p.E262E	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GCTTGATGGAAGAATCCCAGC	0.393																																																0													65	68	67					9																	114304001		2203	4300	6503	SO:0001819	synonymous_variant	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.786A>G	9.37:g.114304001A>G			Q5VZN2|Q8NAE1	Silent	SNP	ENST00000309235.5	37	CCDS35106.1																																																																																				0.393	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		G	114304001	A	G	114304001	2	3	500	1	0	0	0	0	0	0	0	1	17941	69	3	3		3	ZNF483	9	114304001	Silent	SNP	A	TCGA-CJ-4871-01A-01D-1373-10		114304001	26909430	20	27040											
GPR158	57512	hgsc.bcm.edu;ucsc.edu	37	10	25701402	25701402	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr10:25701402G>T	ENST00000376351.3	+	4	1694	c.1335G>T	c.(1333-1335)aaG>aaT	p.K445N		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	445					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCAAAGCAAAGGTAAACCCAG	0.433																																																0													120	105	110					10																	25701402		2203	4300	6503	SO:0001630	splice_region_variant	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1335+1G>T	10.37:g.25701402G>T			Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669054	0.88348	.	.	ENSG00000151025	ENST00000376351	D	0.88277	-2.36	6.16	6.16	0.99307	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.95648	0.8585	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95244	0.8354	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	445	Q5T848	GP158_HUMAN	N	445	ENSP00000365529:K445N	ENSP00000365529:K445N	K	+	3	2	GPR158	25741408	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.443000	0.80521	2.937000	0.99478	0.650000	0.86243	AAG		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	Missense_Mutation	T	25701402	G	T	25701402	5	4	500	1	0	0	0	0	0	0	1	0	6665	1014	35	4	1349	4	GPR158	10	25701402	Splice_Site	SNP	G	TCGA-CJ-4871-01A-01D-1373-10		25701402	109833345	21	27041											
PTEN	5728	hgsc.bcm.edu;ucsc.edu	37	10	89690806	89690806	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr10:89690806T>A	ENST00000371953.3	+	4	1570	c.213T>A	c.(211-213)tgT>tgA	p.C71*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	71	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.F56fs*2(1)|p.C71fs*28(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTAGTTGTGCTGAAAGAC	0.299		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	58	Whole gene deletion(37)|Deletion - Frameshift(15)|Unknown(6)	prostate(16)|central_nervous_system(14)|breast(6)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|soft_tissue(1)|endometrium(1)|urinary_tract(1)											73	69	70					10																	89690806		2202	4293	6495	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.213T>A	10.37:g.89690806T>A	ENSP00000361021:p.Cys71*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	48	14.849772	0.99812	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.6451	16.1135	0.81278	0.0:0.0:0.0:1.0	.	.	.	.	X	71	.	.	C	+	3	2	PTEN	89680786	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.574000	0.67424	2.267000	0.75376	0.383000	0.25322	TGT		0.299	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		A	89690806	T	A	89690806	4	1	500	1	0	0	0	0	0	1	0	0	12743	1702	59	5	227	5	PTEN	10	89690806	Nonsense_Mutation	SNP	T	TCGA-CJ-4871-01A-01D-1373-10	63989404	89690806	45843941	22	27042											
USP15	9958	hgsc.bcm.edu;ucsc.edu	37	12	62777931	62777931	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr12:62777931C>A	ENST00000280377.5	+	11	1379	c.1321C>A	c.(1321-1323)Ctt>Att	p.L441I	USP15_ENST00000393654.3_Missense_Mutation_p.L416I|USP15_ENST00000353364.3_Missense_Mutation_p.L412I	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	441	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATTTCATGGCCTTTTCAAATC	0.348																																					Melanoma(181;615 2041 39364 49691 50001)											0													114	110	111					12																	62777931		2203	4300	6503	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1321C>A	12.37:g.62777931C>A	ENSP00000280377:p.Leu441Ile		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115859	0.77323	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.30981	1.51;1.51;1.51	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.065924	0.64402	D	0.000014	T	0.46288	0.1385	L	0.45744	1.44	0.52501	D	0.999956	D;D	0.76494	0.999;0.999	D;D	0.97110	0.998;1.0	T	0.18398	-1.0338	9	.	.	.	-13.3837	12.1983	0.54311	0.0:0.9227:0.0:0.0773	.	441;412	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	I	412;441;416	ENSP00000258123:L412I;ENSP00000280377:L441I;ENSP00000377264:L416I	.	L	+	1	0	USP15	61064198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.799000	0.62517	2.690000	0.91761	0.655000	0.94253	CTT		0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		A	62777931	C	A	62777931	3	1	500	1	0	0	0	0	1	0	0	0	17051	681	24	4	1272	4	USP15	12	62777931	Missense_Mutation	SNP	C	TCGA-CJ-4871-01A-01D-1373-10		62777931	71073964	23	27043											
PTPN11	5781	hgsc.bcm.edu;ucsc.edu	37	12	112892409	112892409	+	Silent	SNP	T	T	C			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr12:112892409T>C	ENST00000351677.2	+	5	765	c.567T>C	c.(565-567)tcT>tcC	p.S189S	PTPN11_ENST00000392597.1_Silent_p.S189S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	189	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGTTTGATTCTTTGACAGATC	0.368			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																														Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	0													110	104	106					12																	112892409		2203	4300	6503	SO:0001819	synonymous_variant	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.567T>C	12.37:g.112892409T>C			A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.427935	0.25726	.	.	ENSG00000179295	ENST00000530818	.	.	.	5.65	3.25	0.37280	.	.	.	.	.	T	0.54727	0.1876	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45498	-0.9257	4	.	.	.	.	6.2627	0.20910	0.0:0.1407:0.1357:0.7236	.	.	.	.	P	34	.	.	L	+	2	0	PTPN11	111376792	0.970000	0.33590	0.999000	0.59377	0.963000	0.63663	0.082000	0.14847	0.401000	0.25424	0.397000	0.26171	CTT		0.368	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			C	112892409	T	C	112892409	2	2	500	1	0	0	0	0	0	0	0	1	12786	1596	56	3		3	PTPN11	12	112892409	Silent	SNP	T	TCGA-CJ-4871-01A-01D-1373-10	50114478	112892409	20959486	24	27044											
C12orf43	64897	hgsc.bcm.edu;ucsc.edu	37	12	121444125	121444125	+	Splice_Site	SNP	A	A	G			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr12:121444125A>G	ENST00000288757.3	-	4	382	c.360T>C	c.(358-360)gaT>gaC	p.D120D	C12orf43_ENST00000539736.1_Splice_Site_p.D120D|C12orf43_ENST00000445832.3_Splice_Site_p.D90D|C12orf43_ENST00000366211.2_Splice_Site_p.D78D|C12orf43_ENST00000537817.1_Splice_Site_p.D121D|C12orf43_ENST00000536407.2_Intron	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	120										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCACTCACCATCATCCTCCA	0.398																																																0													173	140	151					12																	121444125		2203	4300	6503	SO:0001630	splice_region_variant	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.361+1T>C	12.37:g.121444125A>G			Q53HF0|Q9H9Z7	Silent	SNP	ENST00000288757.3	37	CCDS9210.1	.	.	.	.	.	.	.	.	.	.	A	0.590	-0.833302	0.02713	.	.	ENSG00000157895	ENST00000546272	.	.	.	5.32	-6.24	0.02046	.	.	.	.	.	T	0.61714	0.2369	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63839	-0.6546	4	.	.	.	-34.8215	13.9889	0.64353	0.4511:0.0:0.5489:0.0	.	.	.	.	T	73	.	.	M	-	2	0	C12orf43	119928508	0.507000	0.26146	0.325000	0.25375	0.115000	0.19883	-0.442000	0.06871	-1.301000	0.02338	-0.911000	0.02809	ATG		0.398	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895	Silent	G	121444125	A	G	121444125	5	3	500	1	0	0	0	0	0	0	1	0	1691	231	8	3	440	3	C12orf43	12	121444125	Splice_Site	SNP	A	TCGA-CJ-4871-01A-01D-1373-10	8551716	121444125	12407770	25	27045											
ZMYM2	7750	hgsc.bcm.edu;ucsc.edu	37	13	20656244	20656244	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr13:20656244G>A	ENST00000382874.2	+	23	3732	c.3542G>A	c.(3541-3543)aGc>aAc	p.S1181N	ZMYM2_ENST00000382869.3_Missense_Mutation_p.S1181N|ZMYM2_ENST00000382871.2_Missense_Mutation_p.S1181N|ZMYM2_ENST00000494061.2_3'UTR	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATACTGCGAAGCTGGCAACCA	0.313																																																0													46	44	45					13																	20656244		1818	4079	5897	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3542G>A	13.37:g.20656244G>A	ENSP00000372327:p.Ser1181Asn		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204093	0.38905	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.18016	2.24	5.44	5.44	0.79542	.	0.123175	0.85682	D	0.000000	T	0.06962	0.0177	N	0.03608	-0.345	0.80722	D	1	P	0.34662	0.462	B	0.24541	0.054	T	0.44019	-0.9355	10	0.17369	T	0.5	-21.4624	15.1519	0.72706	0.0:0.1407:0.8592:0.0	.	1181	Q9UBW7	ZMYM2_HUMAN	N	1181;1181;1179;1179;559	ENSP00000372322:S1181N	ENSP00000372322:S1181N	S	+	2	0	ZMYM2	19554244	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.636000	0.61339	2.723000	0.93209	0.591000	0.81541	AGC		0.313	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		A	20656244	G	A	20656244	3	1	500	1	0	0	0	0	1	0	0	0	17705	971	34	2	3620	2	ZMYM2	13	20656244	Missense_Mutation	SNP	G	TCGA-CJ-4871-01A-01D-1373-10		20656244	94513634	26	27046											
CATSPERB	79820	hgsc.bcm.edu;ucsc.edu	37	14	92126245	92126245	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr14:92126245A>T	ENST00000256343.3	-	15	1524	c.1368T>A	c.(1366-1368)caT>caA	p.H456Q		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	456					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TATAAAAACTATGAAAAGTCT	0.333																																																0													73	74	74					14																	92126245		2203	4300	6503	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1368T>A	14.37:g.92126245A>T	ENSP00000256343:p.His456Gln		A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.976149	0.34848	.	.	ENSG00000133962	ENST00000256343	T	0.44083	0.93	4.76	0.986	0.19784	.	0.243738	0.29040	N	0.013336	T	0.51092	0.1654	L	0.53249	1.67	0.24410	N	0.994667	D	0.76494	0.999	D	0.72075	0.976	T	0.37220	-0.9715	10	0.41790	T	0.15	-16.9722	6.8326	0.23919	0.7111:0.0:0.2889:0.0	.	456	Q9H7T0	CTSRB_HUMAN	Q	456	ENSP00000256343:H456Q	ENSP00000256343:H456Q	H	-	3	2	CATSPERB	91195998	0.901000	0.30685	0.923000	0.36655	0.365000	0.29674	-0.068000	0.11561	-0.017000	0.14103	0.454000	0.30748	CAT		0.333	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		T	92126245	A	T	92126245	3	4	500	1	0	0	0	0	1	0	0	0	2693	446	16	5	2034	5	CATSPERB	14	92126245	Missense_Mutation	SNP	A	TCGA-CJ-4871-01A-01D-1373-10		92126245	15223295	27	27047											
MTMR15	22909	hgsc.bcm.edu;ucsc.edu	37	15	31206244	31206244	+	Silent	SNP	C	C	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr15:31206244C>T	ENST00000362065.4	+	5	2052	c.1761C>T	c.(1759-1761)taC>taT	p.Y587Y		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	587					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TTCCTAGTTACACCATCAATC	0.438								Direct reversal of damage																																								0													130	123	125					15																	31206244		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1761C>T	15.37:g.31206244C>T			A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	CCDS32186.1																																																																																				0.438	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		T	31206244	C	T	31206244	2	4	500	1	0	0	0	0	0	0	0	1	9945	489	17	2		2	MTMR15	15	31206244	Silent	SNP	C	TCGA-CJ-4871-01A-01D-1373-10		31206244	71325148	28	27048											
FANCI	55215	hgsc.bcm.edu	37	15	89837146	89837146	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr15:89837146G>C	ENST00000310775.7	+	23	2460	c.2374G>C	c.(2374-2376)Gcc>Ccc	p.A792P	FANCI_ENST00000300027.8_Missense_Mutation_p.A792P	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	792					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGCGGGTAAAGCCAAAACTAA	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													117	109	112					15																	89837146		2200	4299	6499	SO:0001583	missense	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2374G>C	15.37:g.89837146G>C	ENSP00000310842:p.Ala792Pro		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809857	0.50421	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.69926	-0.39;-0.44;0.33	5.72	3.85	0.44370	.	0.366449	0.33772	N	0.004561	T	0.39436	0.1078	N	0.03608	-0.345	0.80722	D	1	B;P;P	0.35208	0.13;0.49;0.49	B;B;B	0.33750	0.124;0.169;0.169	T	0.39583	-0.9607	10	0.46703	T	0.11	-4.651	7.9865	0.30216	0.2656:0.0:0.7344:0.0	.	792;792;792	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	P	792	ENSP00000300027:A792P;ENSP00000310842:A792P;ENSP00000413249:A792P	ENSP00000300027:A792P	A	+	1	0	FANCI	87638150	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.064000	0.57506	1.438000	0.47492	0.655000	0.94253	GCC		0.353	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		C	89837146	G	C	89837146	3	2	500	1	0	0	0	0	1	0	0	0	5671	971	34	4	2460	4	FANCI	15	89837146	Missense_Mutation	SNP	G	TCGA-CJ-4871-01A-01D-1373-10	58630902	89837146	12694246	29	27049											
CHD2	1106	hgsc.bcm.edu	37	15	93492306	93492306	+	Splice_Site	SNP	A	A	C			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr15:93492306A>C	ENST00000394196.4	+	13	2570	c.1502A>C	c.(1501-1503)aAa>aCa	p.K501T	CHD2_ENST00000557381.1_Splice_Site_p.K501T|CHD2_ENST00000536619.1_Missense_Mutation_p.K514T|CHD2_ENST00000420239.2_Missense_Mutation_p.K501T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	501	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCCTGGTGCAAGTAGGTAGAA	0.358																																																0													98	96	96					15																	93492306		2197	4298	6495	SO:0001630	splice_region_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1502+1A>C	15.37:g.93492306A>C			C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	19.92	3.915684	0.73098	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.93133	-3.17;-3.17;-0.56;-0.64	5.66	5.66	0.87406	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.35708	U	0.003034	D	0.94935	0.8362	L	0.39147	1.195	0.58432	D	0.999997	D;B;D	0.89917	1.0;0.237;0.993	D;B;D	0.79108	0.992;0.127;0.913	D	0.95616	0.8676	10	0.87932	D	0	-18.3927	15.9012	0.79377	1.0:0.0:0.0:0.0	.	514;501;501	B7Z3I4;O14647;O14647-2	.;CHD2_HUMAN;.	T	501;501;501;514	ENSP00000377747:K501T;ENSP00000451366:K501T;ENSP00000406581:K501T;ENSP00000443618:K514T	ENSP00000377747:K501T	K	+	2	0	CHD2	91293310	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.922000	0.70036	2.167000	0.68274	0.528000	0.53228	AAA;AAA;AAG;AAG		0.358	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	Missense_Mutation	C	93492306	A	C	93492306	5	2	500	1	0	0	0	0	0	0	1	0	3327	86	3	5	1548	5	CHD2	15	93492306	Splice_Site	SNP	A	TCGA-CJ-4871-01A-01D-1373-10	3655160	93492306	9039086	30	27050											
PGPEP1L	145814	hgsc.bcm.edu	37	15	99511807	99511808	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr15:99511807_99511808insT	ENST00000378919.6	-	5	695_696	c.490_491insA	c.(490-492)agafs	p.R164fs	PGPEP1L_ENST00000535714.1_Frame_Shift_Ins_p.R110fs|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	164							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GATGATGACTCTCAAGGCTCTT	0.564																																																0																																										SO:0001589	frameshift_variant	145814				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.491dupA	15.37:g.99511808_99511808dupT	ENSP00000368199:p.Arg164fs		H0YF86	Frame_Shift_Ins	INS	ENST00000378919.6	37	CCDS53977.1																																																																																				0.564	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		T	99511808	-	T	99511807	7	5	500	1	0	1	1	0	0	0	0	0	11806	913	32	0	103	0	PGPEP1L	15	99511807	Frame_Shift_Ins	INS	-	TCGA-CJ-4871-01A-01D-1373-10	6019501	99511807	3019585	31	27051											
CDH3	1001	hgsc.bcm.edu	37	16	68721570	68721570	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr16:68721570A>C	ENST00000264012.4	+	12	2270	c.1726A>C	c.(1726-1728)Acc>Ccc	p.T576P	CDH3_ENST00000429102.2_Missense_Mutation_p.T576P|CDH3_ENST00000581171.1_Missense_Mutation_p.T521P	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	576	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GTCTCCCCACACCTCCCCTTT	0.602																																																2	Unknown(2)	breast(2)											144	110	122					16																	68721570		2198	4300	6498	SO:0001583	missense	1001			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1726A>C	16.37:g.68721570A>C	ENSP00000264012:p.Thr576Pro		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.494102	0.26774	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.61274	0.12;0.12	5.29	2.97	0.34412	Cadherin (1);Cadherin-like (1);	0.176104	0.27206	N	0.020434	T	0.53578	0.1805	M	0.71206	2.165	0.37976	D	0.933447	B	0.10296	0.003	B	0.17433	0.018	T	0.51576	-0.8688	10	0.46703	T	0.11	.	8.3593	0.32348	0.5827:0.0:0.0:0.4173	.	576	P22223	CADH3_HUMAN	P	576;576;521	ENSP00000398485:T576P;ENSP00000264012:T576P	ENSP00000264012:T576P	T	+	1	0	CDH3	67279071	1.000000	0.71417	0.958000	0.39756	0.820000	0.46376	3.451000	0.52964	0.290000	0.22444	0.460000	0.39030	ACC		0.602	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		C	68721570	A	C	68721570	3	2	500	1	0	0	0	0	1	0	0	0	3113	159	6	5	1772	5	CDH3	16	68721570	Missense_Mutation	SNP	A	TCGA-CJ-4871-01A-01D-1373-10		68721570	21633183	32	27052											
B4GALNT2	124872	hgsc.bcm.edu;ucsc.edu	37	17	47241500	47241500	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr17:47241500C>A	ENST00000300404.2	+	8	1056	c.997C>A	c.(997-999)Ccc>Acc	p.P333T	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.P273T|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.P247T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	333					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTTCCTCCGCCCCCACAAGCT	0.502																																					GBM(124;244 1635 8663 18097 33175)											0													171	164	166					17																	47241500		2203	4300	6503	SO:0001583	missense	124872			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.997C>A	17.37:g.47241500C>A	ENSP00000300404:p.Pro333Thr		B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839856	0.71488	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.62788	-0.0;-0.0;-0.0	5.58	4.61	0.57282	Glycosyl transferase, family 2 (1);	0.203527	0.37095	N	0.002244	T	0.70552	0.3237	M	0.65498	2.005	0.38892	D	0.957143	D;D	0.76494	0.997;0.999	P;D	0.69824	0.894;0.966	T	0.68969	-0.5269	10	0.25106	T	0.35	-24.3542	6.4709	0.22007	0.0:0.7607:0.0:0.2393	.	273;333	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	T	247;273;333	ENSP00000425510:P247T;ENSP00000377022:P273T;ENSP00000300404:P333T	ENSP00000300404:P333T	P	+	1	0	B4GALNT2	44596499	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.179000	0.58290	2.621000	0.88768	0.555000	0.69702	CCC		0.502	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		A	47241500	C	A	47241500	3	1	500	1	0	0	0	0	1	0	0	0	1267	623	22	4	1045	4	B4GALNT2	17	47241500	Missense_Mutation	SNP	C	TCGA-CJ-4871-01A-01D-1373-10		47241500	33953710	33	27053											
ABCA10	10349	hgsc.bcm.edu;ucsc.edu	37	17	67212477	67212477	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr17:67212477T>C	ENST00000269081.4	-	8	1462	c.553A>G	c.(553-555)Att>Gtt	p.I185V	ABCA10_ENST00000416101.2_Missense_Mutation_p.I185V|ABCA10_ENST00000432313.2_Missense_Mutation_p.I185V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	185					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGAAGCAAATGTATGTCAAT	0.373																																																0													150	152	152					17																	67212477		2203	4300	6503	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.553A>G	17.37:g.67212477T>C	ENSP00000269081:p.Ile185Val		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	T	1.129	-0.653018	0.03480	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.84298	-1.83;-1.83;-1.83	3.2	-0.183	0.13284	.	0.569876	0.12456	U	0.467360	T	0.61565	0.2357	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53535	-0.8425	10	0.41790	T	0.15	.	6.5514	0.22436	0.0:0.5288:0.0:0.4712	.	185;185	E5RFP5;Q8WWZ4	.;ABCAA_HUMAN	V	185	ENSP00000269081:I185V;ENSP00000407772:I185V;ENSP00000387674:I185V	ENSP00000269081:I185V	I	-	1	0	ABCA10	64724072	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.495000	0.06443	0.091000	0.17302	-1.009000	0.02473	ATT		0.373	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		C	67212477	T	C	67212477	3	2	500	1	0	0	0	0	1	0	0	0	29	1464	51	3	4210	3	ABCA10	17	67212477	Missense_Mutation	SNP	T	TCGA-CJ-4871-01A-01D-1373-10	19970977	67212477	13982733	34	27054											
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9067458	9067458	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr19:9067458C>T	ENST00000397910.4	-	3	20191	c.19988G>A	c.(19987-19989)aGc>aAc	p.S6663N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6665	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGGAGGTGCTGGTTCCCTT	0.517																																																0													108	107	108					19																	9067458		2029	4181	6210	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19988G>A	19.37:g.9067458C>T	ENSP00000381008:p.Ser6663Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.071	0.381347	0.11466	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.72	0.296	0.15757	.	.	.	.	.	T	0.02494	0.0076	L	0.38838	1.175	.	.	.	P	0.34587	0.458	B	0.33339	0.162	T	0.38908	-0.9639	8	0.87932	D	0	.	3.2661	0.06865	0.2517:0.5989:0.0:0.1493	.	6663	B5ME49	.	N	6663	ENSP00000381008:S6663N	ENSP00000381008:S6663N	S	-	2	0	MUC16	8928458	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	-0.200000	0.09478	0.165000	0.19558	0.163000	0.16589	AGC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9067458	C	T	9067458	3	4	500	1	0	0	0	0	1	0	0	0	9975	797	28	2	23863	2	MUC16	19	9067458	Missense_Mutation	SNP	C	TCGA-CJ-4871-01A-01D-1373-10		9067458	50061525	35	27055											
PDE4C	5143	hgsc.bcm.edu	37	19	18322690	18322691	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr19:18322690_18322691insA	ENST00000355502.3	-	18	2540_2541	c.1669_1670insT	c.(1669-1671)tacfs	p.Y557fs	AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000598111.2_Frame_Shift_Ins_p.Y272fs|PDE4C_ENST00000594617.3_Frame_Shift_Ins_p.Y557fs|PDE4C_ENST00000594465.3_Frame_Shift_Ins_p.Y557fs|PDE4C_ENST00000262805.12_Frame_Shift_Ins_p.Y525fs|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000447275.3_Frame_Shift_Ins_p.Y451fs|PDE4C_ENST00000539010.1_Frame_Shift_Ins_p.Y326fs|PDE4C_ENST00000597297.1_Frame_Shift_Ins_p.Y327fs			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	557					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CCACTGGCGGTACAGGGGCAGC	0.629																																																0																																										SO:0001589	frameshift_variant	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1670dupT	19.37:g.18322691_18322691dupA	ENSP00000347689:p.Tyr557fs		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Frame_Shift_Ins	INS	ENST00000355502.3	37	CCDS12373.1																																																																																				0.629	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			A	18322691	-	A	18322690	7	5	500	1	0	1	1	0	0	0	0	0	11643	1638	57	0	476	0	PDE4C	19	18322690	Frame_Shift_Ins	INS	-	TCGA-CJ-4871-01A-01D-1373-10	9255232	18322690	40806293	36	27056											
PRX	57716	hgsc.bcm.edu	37	19	40902612	40902612	+	Silent	SNP	C	C	G	rs202113722		TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr19:40902612C>G	ENST00000324001.7	-	7	1917	c.1647G>C	c.(1645-1647)ccG>ccC	p.P549P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	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)		p.P549P(1)		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)			CTGACACTTTCGGCAGCTGTA	0.577																																																1	Substitution - coding silent(1)	ovary(1)											89	102	97					19																	40902612		2202	4297	6499	SO:0001819	synonymous_variant	57716			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.1647G>C	19.37:g.40902612C>G			Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	CCDS33028.1																																																																																				0.577	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		G	40902612	C	G	40902612	2	3	500	1	0	0	0	0	0	0	0	1	12647	871	31	4		4	PRX	19	40902612	Silent	SNP	C	TCGA-CJ-4871-01A-01D-1373-10	22579922	40902612	18226371	37	27057											
KLK3	354	hgsc.bcm.edu;ucsc.edu	37	19	51363270	51363270	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr19:51363270G>C	ENST00000326003.2	+	5	714	c.673G>C	c.(673-675)Ggt>Cgt	p.G225R	KLK3_ENST00000595952.1_Missense_Mutation_p.G182R|KLK3_ENST00000360617.3_3'UTR	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	225	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGTGCTTCAAGGTATCACGTC	0.542																																					Colon(185;1767 2023 13025 30120 37630)											0													206	166	180					19																	51363270		2203	4300	6503	SO:0001583	missense	354			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.673G>C	19.37:g.51363270G>C	ENSP00000314151:p.Gly225Arg		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663186	0.67700	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000326052	T	0.60171	0.21	3.41	3.41	0.39046	.	0.000000	0.38897	N	0.001537	T	0.81069	0.4746	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86464	0.1781	10	0.87932	D	0	.	13.0972	0.59200	0.0:0.0:1.0:0.0	.	184;182	Q8NCW4;G3V0H4	.;.	R	225;182;184	ENSP00000314151:G225R	ENSP00000314151:G225R	G	+	1	0	KLK3	56055082	1.000000	0.71417	0.019000	0.16419	0.157000	0.22087	5.950000	0.70265	1.833000	0.53350	0.400000	0.26472	GGT		0.542	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		C	51363270	G	C	51363270	3	2	500	1	0	0	0	0	1	0	0	0	8407	1000	35	4	786	4	KLK3	19	51363270	Missense_Mutation	SNP	G	TCGA-CJ-4871-01A-01D-1373-10	10460658	51363270	7765713	38	27058											
RPN2	6185	hgsc.bcm.edu;ucsc.edu	37	20	35842247	35842247	+	Silent	SNP	G	G	A			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr20:35842247G>A	ENST00000237530.6	+	9	1382	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	RPN2_ENST00000373622.5_Silent_p.R325R	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	357					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GTGACAACCGGTATATTGCAA	0.363																																																0													144	132	136					20																	35842247		2203	4300	6503	SO:0001819	synonymous_variant	6185			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1071G>A	20.37:g.35842247G>A			Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	CCDS13291.1																																																																																				0.363	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		A	35842247	G	A	35842247	2	1	500	1	0	0	0	0	0	0	0	1	13614	1248	44	2		2	RPN2	20	35842247	Silent	SNP	G	TCGA-CJ-4871-01A-01D-1373-10		35842247	27183273	39	27059											
ACTR5	79913	hgsc.bcm.edu	37	20	37394094	37394094	+	Missense_Mutation	SNP	T	T	G	rs373486054		TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr20:37394094T>G	ENST00000243903.4	+	6	1263	c.1226T>G	c.(1225-1227)aTg>aGg	p.M409R		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	409					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GTGGAAAGCATGAATGATTTT	0.488																																																0													146	144	145					20																	37394094		2203	4300	6503	SO:0001583	missense	79913			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1226T>G	20.37:g.37394094T>G	ENSP00000243903:p.Met409Arg		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575678	0.28092	.	.	ENSG00000101442	ENST00000243903	D	0.96104	-3.91	5.13	5.13	0.70059	.	0.507072	0.24169	N	0.040903	D	0.92987	0.7768	L	0.46157	1.445	0.30027	N	0.813811	B	0.28178	0.202	B	0.32090	0.14	D	0.89024	0.3437	10	0.27785	T	0.31	-4.7923	13.791	0.63140	0.0:0.0:0.0:1.0	.	409	Q9H9F9	ARP5_HUMAN	R	409	ENSP00000243903:M409R	ENSP00000243903:M409R	M	+	2	0	ACTR5	36827508	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.370000	0.66144	2.064000	0.61679	0.374000	0.22700	ATG		0.488	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		G	37394094	T	G	37394094	3	3	500	1	0	0	0	0	1	0	0	0	215	1464	51	5	1248	5	ACTR5	20	37394094	Missense_Mutation	SNP	T	TCGA-CJ-4871-01A-01D-1373-10	1551847	37394094	25631426	40	27060											
R3HDML	140902	hgsc.bcm.edu;ucsc.edu	37	20	42969922	42969922	+	Silent	SNP	C	C	T	rs571680930		TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr20:42969922C>T	ENST00000217043.2	+	2	520	c.348C>T	c.(346-348)taC>taT	p.Y116Y		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	116	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TGATGAGATACGTGGGCCAGA	0.557																																																0													68	63	65					20																	42969922		2203	4300	6503	SO:0001819	synonymous_variant	140902			BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.348C>T	20.37:g.42969922C>T				Silent	SNP	ENST00000217043.2	37	CCDS13329.1																																																																																				0.557	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		T	42969922	C	T	42969922	2	4	500	1	0	0	0	0	0	0	0	1	12895	547	19	1		1	R3HDML	20	42969922	Silent	SNP	C	TCGA-CJ-4871-01A-01D-1373-10	5575828	42969922	20055598	41	27061											
C20orf106	200232	hgsc.bcm.edu;ucsc.edu	37	20	55100907	55100914	+	Frame_Shift_Del	DEL	AAAGAAAA	AAAGAAAA	-			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	AAAGAAAA	AAAGAAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr20:55100907_55100914delAAAGAAAA	ENST00000371328.3	+	2	620_627	c.297_304delAAAGAAAA	c.(295-306)ttaaagaaaaaafs	p.KKK100fs	GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	100						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.K101*(1)									ACTCTCCATTAAAGAAAAAAAGAAATGC	0.428																																																1	Substitution - Nonsense(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 106"	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.297_304delAAAGAAAA	20.37:g.55100907_55100914delAAAGAAAA	ENSP00000360379:p.Lys100fs		Q05C43	Frame_Shift_Del	DEL	ENST00000371328.3	37	CCDS33493.1																																																																																				0.428	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			-	55100914	AAAGAAAA	-	55100907	7	5	500	1	0	1	0	1	0	0	0	0	2078	359	13	0	303	0	C20orf106	20	55100907	Frame_Shift_Del	DEL	AAAGAAAA	TCGA-CJ-4871-01A-01D-1373-10	12130985	55100907	7924613	42	27062											
SON	6651	hgsc.bcm.edu;ucsc.edu	37	21	34922635	34922635	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr21:34922635G>T	ENST00000356577.4	+	3	1573	c.1098G>T	c.(1096-1098)aaG>aaT	p.K366N	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.K366N|SON_ENST00000300278.4_Missense_Mutation_p.K366N|SON_ENST00000290239.6_Missense_Mutation_p.K366N	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	366					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGCTGCCTAAGACCACAGCGT	0.602																																																0													96	104	101					21																	34922635		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1098G>T	21.37:g.34922635G>T	ENSP00000348984:p.Lys366Asn		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552726	0.86127	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.13538	2.76;2.76;2.76;2.58	5.28	5.28	0.74379	.	0.330606	0.26317	N	0.025073	T	0.22360	0.0539	L	0.29908	0.895	0.35597	D	0.807527	D;D;D	0.69078	0.984;0.991;0.997	P;P;P	0.59221	0.632;0.798;0.854	T	0.07947	-1.0746	10	0.72032	D	0.01	.	14.7582	0.69583	0.0:0.0:1.0:0.0	.	366;366;366	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	N	366	ENSP00000348984:K366N;ENSP00000290239:K366N;ENSP00000300278:K366N;ENSP00000371095:K366N	ENSP00000290239:K366N	K	+	3	2	SON	33844505	0.944000	0.32072	1.000000	0.80357	0.988000	0.76386	6.014000	0.70784	2.633000	0.89246	0.561000	0.74099	AAG		0.602	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		T	34922635	G	T	34922635	3	4	500	1	0	0	0	0	1	0	0	0	14932	933	33	4	1108	4	SON	21	34922635	Missense_Mutation	SNP	G	TCGA-CJ-4871-01A-01D-1373-10		34922635	13207260	43	27063											
PICK1	9463	hgsc.bcm.edu;ucsc.edu	37	22	38467740	38467740	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr22:38467740A>T	ENST00000404072.3	+	8	892	c.545A>T	c.(544-546)cAg>cTg	p.Q182L	PICK1_ENST00000356976.3_Missense_Mutation_p.Q182L|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	182	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GAGCTGTCGCAGACTCACCGG	0.617																																																0													84	77	79					22																	38467740		2203	4300	6503	SO:0001583	missense	9463			AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.545A>T	22.37:g.38467740A>T	ENSP00000385205:p.Gln182Leu		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.386399	0.61956	.	.	ENSG00000100151	ENST00000404072;ENST00000424694;ENST00000356976	T;T;T	0.80033	-1.33;-1.33;-1.33	5.18	5.18	0.71444	Arfaptin-like (3);	0.215887	0.49916	D	0.000140	T	0.78916	0.4359	M	0.64404	1.975	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.75961	-0.3133	10	0.49607	T	0.09	-29.9275	15.3491	0.74368	1.0:0.0:0.0:0.0	.	182	Q9NRD5	PICK1_HUMAN	L	182	ENSP00000385205:Q182L;ENSP00000398141:Q182L;ENSP00000349465:Q182L	ENSP00000349465:Q182L	Q	+	2	0	PICK1	36797686	1.000000	0.71417	0.953000	0.39169	0.990000	0.78478	7.530000	0.81962	2.104000	0.64026	0.533000	0.62120	CAG		0.617	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		T	38467740	A	T	38467740	3	4	500	1	0	0	0	0	1	0	0	0	11883	188	7	5	571	5	PICK1	22	38467740	Missense_Mutation	SNP	A	TCGA-CJ-4871-01A-01D-1373-10		38467740	12836826	44	27064											
PNPLA3	80339	hgsc.bcm.edu;ucsc.edu	37	22	44322980	44322980	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chr22:44322980T>G	ENST00000216180.3	+	2	526	c.353T>G	c.(352-354)cTt>cGt	p.L118R	PNPLA3_ENST00000423180.2_Missense_Mutation_p.L114R|PNPLA3_ENST00000478713.1_3'UTR	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	118	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GGCATCTCTCTTACCAGAGTG	0.498																																																0													86	77	80					22																	44322980		2203	4300	6503	SO:0001583	missense	80339				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.353T>G	22.37:g.44322980T>G	ENSP00000216180:p.Leu118Arg		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672675	0.67928	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.77750	-1.12;-1.12	5.6	5.6	0.85130	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.64402	D	0.000011	D	0.90219	0.6942	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92314	0.5860	10	0.87932	D	0	-45.8499	14.6283	0.68638	0.0:0.0:0.0:1.0	.	118	Q9NST1	PLPL3_HUMAN	R	118;114	ENSP00000216180:L118R;ENSP00000397987:L114R	ENSP00000216180:L118R	L	+	2	0	PNPLA3	42654313	1.000000	0.71417	0.969000	0.41365	0.288000	0.27193	7.322000	0.79097	2.122000	0.65172	0.523000	0.50628	CTT		0.498	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		G	44322980	T	G	44322980	3	3	500	1	0	0	0	0	1	0	0	0	12168	1609	56	5	359	5	PNPLA3	22	44322980	Missense_Mutation	SNP	T	TCGA-CJ-4871-01A-01D-1373-10	5855240	44322980	6981586	45	27065											
KDM5C	8242	ucsc.edu	37	X	53250081	53250082	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CJ-4871-01A-01D-1373-10	TCGA-CJ-4871-11A-01D-1373-10	AA	AA	AA	-	AA	AA	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	2fa24cc6-b7f4-4e68-987d-5338af3c9b35	249b12b1-3996-487f-8785-f4e3d64db9ba	g.chrX:53250081_53250082delAA	ENST00000375401.3	-	2	699_700	c.167_168delTT	c.(166-168)tttfs	p.F56fs	KDM5C_ENST00000375379.3_Frame_Shift_Del_p.F56fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.F56fs|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.F56fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	56					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTTCCACAGCAAAGGGTGGCTG	0.535			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0																																										SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.167_168delTT	X.37:g.53250081_53250082delAA	ENSP00000364550:p.Phe56fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.535	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		-	53250082	AA	-	53250081	7	5	500	1	0	1	0	1	0	0	0	0	8137	127	5	0	4712	0	KDM5C	23	53250081	Frame_Shift_Del	DEL	AA	TCGA-CJ-4871-01A-01D-1373-10		53250081	102020479	46	27066											
VHL	7428	hgsc.bcm.edu	37	3	10183863	10183863	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4872-01A-01W-1369-10	TCGA-CJ-4872-11A-01W-1369-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	9a38067c-7a4e-48d5-801e-06f5372fbc70	670ff7c5-0b0c-4af7-ba25-6cc8d5b5562b	g.chr3:10183863G>A	ENST00000256474.2	+	1	1172	c.332G>A	c.(331-333)aGc>aAc	p.S111N	VHL_ENST00000345392.2_Missense_Mutation_p.S111N|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	111	Involved in binding to CCT complex.		S -> C (in VHLD; type II).|S -> N (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S111N(5)|p.S111I(2)|p.S111fs*49(1)|p.?(1)|p.I109_R113del(1)|p.S111fs*22(1)|p.S111fs*45(1)|p.H110_S111del(1)|p.S111_Y112del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCATCCACAGCTACCGAGGT	0.692		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	14	Substitution - Missense(7)|Deletion - In frame(3)|Insertion - Frameshift(2)|Deletion - Frameshift(1)|Unknown(1)	kidney(14)	GRCh37	CM951280|HM971583	VHL	M							10	12	11					3																	10183863		1804	3758	5562	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.332G>A	3.37:g.10183863G>A	ENSP00000256474:p.Ser111Asn		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342270	0.61073	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99760	-6.66;-6.66	5.17	3.37	0.38596	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.096185	0.64402	N	0.000001	D	0.98532	0.9510	L	0.36672	1.1	0.21220	N	0.999751	B;B	0.27229	0.172;0.143	B;B	0.31686	0.134;0.091	D	0.99293	1.0899	10	0.54805	T	0.06	-5.879	4.2645	0.10757	0.0854:0.1565:0.5963:0.1618	.	111;111	P40337-2;P40337	.;VHL_HUMAN	N	111;111;29	ENSP00000256474:S111N;ENSP00000344757:S111N	ENSP00000256474:S111N	S	+	2	0	VHL	10158863	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.866000	0.56040	0.580000	0.29522	0.479000	0.44913	AGC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183863	G	A	10183863	3	1	501	1	0	0	0	0	1	0	0	0	17167	971	34	2	334	2	VHL	3	10183863	Missense_Mutation	SNP	G	TCGA-CJ-4872-01A-01W-1369-10		10183863	187838567	1	27067											
ZMYM1	79830	hgsc.bcm.edu;ucsc.edu	37	1	35576005	35576005	+	Silent	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:35576005T>C	ENST00000373330.1	+	8	1092	c.918T>C	c.(916-918)aaT>aaC	p.N306N	ZMYM1_ENST00000359858.4_Silent_p.N306N|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	306						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTCTATTAATTGTTTCTCTG	0.333																																																0													178	171	173					1																	35576005		1891	4147	6038	SO:0001819	synonymous_variant	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.918T>C	1.37:g.35576005T>C			D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	CCDS41302.1																																																																																				0.333	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		C	35576005	T	C	35576005	2	2	502	1	0	0	0	0	0	0	0	1	17704	1490	52	3		3	ZMYM1	1	35576005	Silent	SNP	T	TCGA-CJ-4873-01A-01D-1373-10		35576005	213674616	1	27068											
EIF2C3	192669	hgsc.bcm.edu	37	1	36474310	36474310	+	Silent	SNP	T	T	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:36474310T>A	ENST00000373191.4	+	7	1162	c.813T>A	c.(811-813)acT>acA	p.T271T	RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Silent_p.T37T|RP4-665N4.8_ENST00000479395.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	271	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TTGAAGTGACTCATTGTGGAA	0.388																																																0													72	75	74					1																	36474310		2203	4300	6503	SO:0001819	synonymous_variant	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.813T>A	1.37:g.36474310T>A			B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	CCDS399.1																																																																																				0.388	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		A	36474310	T	A	36474310	2	1	502	1	0	0	0	0	0	0	0	1	5009	1538	54	5		5	EIF2C3	1	36474310	Silent	SNP	T	TCGA-CJ-4873-01A-01D-1373-10	898305	36474310	212776311	2	27069											
PTPRF	5792	hgsc.bcm.edu;ucsc.edu	37	1	44057602	44057602	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:44057602G>C	ENST00000359947.4	+	10	1991	c.1651G>C	c.(1651-1653)Gag>Cag	p.E551Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.E10Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.E551Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.E551Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.E551Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	551	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGGCGGCAGAGGACGAAGA	0.602																																																0													50	49	49					1																	44057602		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1651G>C	1.37:g.44057602G>C	ENSP00000353030:p.Glu551Gln		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	7.502|7.502|7.502	0.652965|0.652965|0.652965	0.14580|0.14580|0.14580	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171|ENST00000429895|ENST00000412568;ENST00000414879	T;T;T;T;T|.|.	0.57273|.|.	0.41;0.41;0.41;0.41;0.41|.|.	4.87|4.87|4.87	4.87|4.87|4.87	0.63330|0.63330|0.63330	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.|.	0.000000|.|.	0.34750|.|.	N|.|.	0.003714|.|.	T|T|T	0.20170|0.20170|0.20170	0.0485|0.0485|0.0485	N|N|N	0.04508|0.04508|0.04508	-0.205|-0.205|-0.205	0.09310|0.09310|0.09310	N|N|N	0.999999|0.999999|0.999999	B;B;B;D;P|.|.	0.62365|.|.	0.202;0.051;0.432;0.991;0.758|.|.	B;B;B;P;P|.|.	0.57283|.|.	0.071;0.049;0.123;0.817;0.471|.|.	T|T|T	0.13548|0.13548|0.13548	-1.0505|-1.0505|-1.0505	10|5|5	0.22706|.|.	T|.|.	0.39|.|.	.|.|.	12.3148|12.3148|12.3148	0.54948|0.54948|0.54948	0.0794:0.0:0.9206:0.0|0.0794:0.0:0.9206:0.0|0.0794:0.0:0.9206:0.0	.|.|.	207;10;310;551;551|.|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.|.	.;.;.;.;PTPRF_HUMAN|.|.	Q|H|T	551;551;551;551;10|207|218;75	ENSP00000353030:E551Q;ENSP00000398822:E551Q;ENSP00000361491:E551Q;ENSP00000361490:E551Q;ENSP00000387885:E10Q|.|.	ENSP00000353030:E551Q|.|.	E|Q|R	+|+|+	1|3|2	0|2|0	PTPRF|PTPRF|PTPRF	43830189|43830189|43830189	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.972000|0.972000|0.972000	0.41901|0.41901|0.41901	0.332000|0.332000|0.332000	0.28634|0.28634|0.28634	3.956000|3.956000|3.956000	0.56722|0.56722|0.56722	2.617000|2.617000|2.617000	0.88574|0.88574|0.88574	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|CAG|AGA		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			C	44057602	G	C	44057602	3	2	502	1	0	0	0	0	1	0	0	0	12807	943	33	4	1681	4	PTPRF	1	44057602	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	7583292	44057602	205193019	3	27070											
SCP2	6342	hgsc.bcm.edu;ucsc.edu	37	1	53480709	53480709	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:53480709C>A	ENST00000528311.1	+	11	1282	c.986C>A	c.(985-987)gCc>gAc	p.A329D	SCP2_ENST00000408941.3_Missense_Mutation_p.A6D|SCP2_ENST00000435345.2_Missense_Mutation_p.A6D|SCP2_ENST00000488965.1_Missense_Mutation_p.A6D|SCP2_ENST00000371514.3_Missense_Mutation_p.A410D|SCP2_ENST00000430330.2_Missense_Mutation_p.A6D|SCP2_ENST00000407246.2_Missense_Mutation_p.A386D|SCP2_ENST00000371509.4_Missense_Mutation_p.A366D	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TTTCCGGAAGCCGCCAGGTGA	0.418																																																0													142	140	141					1																	53480709		2203	4300	6503	SO:0001583	missense	6342			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.986C>A	1.37:g.53480709C>A	ENSP00000434132:p.Ala329Asp		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.867478|1.867478	0.32977|0.32977	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000408941;ENST00000435345;ENST00000488965|ENST00000478274;ENST00000484100	T;T;T;T;T;T|.	0.68765|.	-0.35;-0.35;-0.35;-0.35;1.85;1.93|.	5.44|5.44	4.51|4.51	0.55191|0.55191	.|.	0.647007|.	0.15342|.	N|.	0.267480|.	T|T	0.39784|0.39784	0.1091|0.1091	L|L	0.34521|0.34521	1.04|1.04	0.24250|0.24250	N|N	0.995326|0.995326	B;B;B;P;B;B|.	0.42409|.	0.003;0.01;0.004;0.779;0.0;0.004|.	B;B;B;B;B;B|.	0.41036|.	0.002;0.013;0.005;0.346;0.0;0.003|.	T|T	0.21348|0.21348	-1.0248|-1.0248	10|5	0.34782|.	T|.	0.22|.	-10.3797|-10.3797	12.9029|12.9029	0.58135|0.58135	0.0:0.9197:0.0:0.0803|0.0:0.9197:0.0:0.0803	.|.	6;386;366;6;6;410|.	B4E0J3;C9JC79;A6NM69;F2Z3J1;E1B6W5;P22307|.	.;.;.;.;.;NLTP_HUMAN|.	D|R	410;329;366;386;6;6;6;6|24	ENSP00000360569:A410D;ENSP00000434132:A329D;ENSP00000360564:A366D;ENSP00000384569:A386D;ENSP00000406636:A6D;ENSP00000396413:A6D|.	ENSP00000360564:A366D|.	A|S	+|+	2|3	0|2	SCP2|SCP2	53253297|53253297	0.775000|0.775000	0.28604|0.28604	0.987000|0.987000	0.45799|0.45799	0.536000|0.536000	0.34869|0.34869	1.367000|1.367000	0.34204|0.34204	2.708000|2.708000	0.92522|0.92522	0.650000|0.650000	0.86243|0.86243	GCC|AGC		0.418	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		A	53480709	C	A	53480709	3	1	502	1	0	0	0	0	1	0	0	0	13940	739	26	4	1299	4	SCP2	1	53480709	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	9423107	53480709	195769912	4	27071											
URB2	9816	hgsc.bcm.edu;ucsc.edu	37	1	229773001	229773001	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:229773001G>T	ENST00000258243.2	+	4	2777	c.2641G>T	c.(2641-2643)Gac>Tac	p.D881Y		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	881						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D881Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGTCAAGAGTGACTTCCCTAT	0.502																																																1	Substitution - Missense(1)	endometrium(1)											113	112	112					1																	229773001		2203	4300	6503	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2641G>T	1.37:g.229773001G>T	ENSP00000258243:p.Asp881Tyr		Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894366	0.52121	.	.	ENSG00000135763	ENST00000258243	T	0.32023	1.47	5.35	5.35	0.76521	.	0.658907	0.16248	N	0.222843	T	0.32675	0.0837	L	0.27053	0.805	0.09310	N	1	D	0.56521	0.976	P	0.53185	0.72	T	0.11348	-1.0591	9	.	.	.	-9.407	12.4103	0.55464	0.1215:0.0:0.8785:0.0	.	881	Q14146	URB2_HUMAN	Y	881	ENSP00000258243:D881Y	.	D	+	1	0	URB2	227839624	0.004000	0.15560	0.088000	0.20740	0.870000	0.49936	1.350000	0.34010	2.680000	0.91292	0.585000	0.79938	GAC		0.502	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		T	229773001	G	T	229773001	3	4	502	1	0	0	0	0	1	0	0	0	17030	1290	45	4	2651	4	URB2	1	229773001	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	176292292	229773001	19477620	5	27072											
LYST	1130	hgsc.bcm.edu;ucsc.edu	37	1	235904825	235904825	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:235904825A>C	ENST00000389794.3	-	31	8429	c.8255T>G	c.(8254-8256)tTg>tGg	p.L2752W	LYST_ENST00000389793.2_Missense_Mutation_p.L2752W			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2752					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGCTGGCGACAAAATATGCAC	0.443																																																0													167	145	153					1																	235904825		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8255T>G	1.37:g.235904825A>C	ENSP00000374444:p.Leu2752Trp		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.165818	0.57476	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.70516	-0.49;-0.49	5.11	3.98	0.46160	.	0.354031	0.28349	N	0.015664	T	0.79656	0.4483	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.80997	-0.1132	10	0.87932	D	0	.	9.2087	0.37304	0.9171:0.0:0.0829:0.0	.	2752	Q99698	LYST_HUMAN	W	2752	ENSP00000374444:L2752W;ENSP00000374443:L2752W	ENSP00000374443:L2752W	L	-	2	0	LYST	233971448	1.000000	0.71417	0.966000	0.40874	0.394000	0.30568	6.350000	0.73017	2.059000	0.61396	0.482000	0.46254	TTG		0.443	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			C	235904825	A	C	235904825	3	2	502	1	0	0	0	0	1	0	0	0	9130	131	5	5	3242	5	LYST	1	235904825	Missense_Mutation	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	6131824	235904825	13345796	6	27073											
OR2C3	81472	hgsc.bcm.edu	37	1	247695344	247695344	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:247695344C>T	ENST00000366487.3	-	2	831	c.470G>A	c.(469-471)aGc>aAc	p.S157N	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCCCACCATGCTGGTGGTCAG	0.557																																																0													49	48	49					1																	247695344		2203	4300	6503	SO:0001583	missense	81472			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.470G>A	1.37:g.247695344C>T	ENSP00000355443:p.Ser157Asn		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667939	0.29604	.	.	ENSG00000196242	ENST00000366487	T	0.44881	0.91	3.89	0.614	0.17603	GPCR, rhodopsin-like superfamily (1);	0.422095	0.16903	U	0.194830	T	0.48960	0.1529	H	0.94345	3.525	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.54669	-0.8259	10	0.87932	D	0	.	4.4839	0.11780	0.0:0.4321:0.3565:0.2114	.	157	Q8N628	OR2C3_HUMAN	N	157	ENSP00000355443:S157N	ENSP00000355443:S157N	S	-	2	0	OR2C3	245761967	0.000000	0.05858	0.024000	0.17045	0.972000	0.66771	0.041000	0.13927	0.394000	0.25230	0.650000	0.86243	AGC		0.557	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		T	247695344	C	T	247695344	3	4	502	1	0	0	0	0	1	0	0	0	10995	797	28	2	496	2	OR2C3	1	247695344	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	11790519	247695344	1555277	7	27074											
EML4	27436	hgsc.bcm.edu;ucsc.edu	37	2	42510110	42510110	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:42510110A>G	ENST00000318522.5	+	8	1201	c.939A>G	c.(937-939)aaA>aaG	p.K313K	EML4_ENST00000402711.2_Silent_p.K255K|EML4_ENST00000401738.3_Silent_p.K324K	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	313					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACTGTGTGAAATGGTTGGTAT	0.353			T	ALK	NSCLC																																		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													104	107	106					2																	42510110		2203	4300	6503	SO:0001819	synonymous_variant	27436			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.939A>G	2.37:g.42510110A>G			A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	CCDS1807.1																																																																																				0.353	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		G	42510110	A	G	42510110	2	3	502	1	0	0	0	0	0	0	0	1	5101	98	4	3		3	EML4	2	42510110	Silent	SNP	A	TCGA-CJ-4873-01A-01D-1373-10		42510110	200689263	8	27075											
MSH6	2956	hgsc.bcm.edu;ucsc.edu	37	2	48027971	48027971	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:48027971G>T	ENST00000234420.5	+	4	3001	c.2849G>T	c.(2848-2850)aGc>aTc	p.S950I	MSH6_ENST00000540021.1_Missense_Mutation_p.S820I|MSH6_ENST00000538136.1_Missense_Mutation_p.S648I|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	950					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)			AATGAACAGAGCCTCCTGGAA	0.458			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													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)											44	44	44					2																	48027971		2203	4300	6503	SO:0001583	missense	2956	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.2849G>T	2.37:g.48027971G>T	ENSP00000234420:p.Ser950Ile		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857345	0.51376	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.90069	-2.61;-2.61;-2.61	5.61	4.7	0.59300	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.255501	0.44483	D	0.000459	D	0.87724	0.6249	L	0.52011	1.625	0.80722	D	1	P;P;P	0.52061	0.82;0.773;0.95	P;P;P	0.52267	0.588;0.449;0.694	D	0.87191	0.2234	10	0.72032	D	0.01	-14.3294	5.1921	0.15214	0.1786:0.1869:0.6344:0.0	.	820;950;950	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	I	950;948;820;648	ENSP00000234420:S950I;ENSP00000446475:S820I;ENSP00000438580:S648I	ENSP00000234420:S950I	S	+	2	0	MSH6	47881475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.261000	0.51530	2.634000	0.89283	0.563000	0.77884	AGC		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		T	48027971	G	T	48027971	3	4	502	1	0	0	0	0	1	0	0	0	9876	971	34	4	2863	4	MSH6	2	48027971	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	5517861	48027971	195171402	9	27076											
SLC40A1	30061	hgsc.bcm.edu;ucsc.edu	37	2	190428477	190428477	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:190428477A>T	ENST00000261024.2	-	7	1661	c.1235T>A	c.(1234-1236)tTc>tAc	p.F412Y		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	412					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TCCTTGAATGAACCTTGATCG	0.418																																																0													96	98	97					2																	190428477		2203	4300	6503	SO:0001583	missense	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1235T>A	2.37:g.190428477A>T	ENSP00000261024:p.Phe412Tyr		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513347	0.64522	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.92249	-3.0	6.02	3.68	0.42216	Major facilitator superfamily domain, general substrate transporter (1);	0.427798	0.29668	N	0.011515	D	0.83385	0.5243	N	0.22421	0.69	0.31163	N	0.704114	P	0.41748	0.761	B	0.41764	0.366	T	0.79711	-0.1689	10	0.02654	T	1	-9.2274	9.8735	0.41189	0.8634:0.0:0.1366:0.0	.	412	Q9NP59	S40A1_HUMAN	Y	412;147	ENSP00000261024:F412Y	ENSP00000261024:F412Y	F	-	2	0	SLC40A1	190136722	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	4.191000	0.58372	1.094000	0.41399	0.528000	0.53228	TTC		0.418	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			T	190428477	A	T	190428477	3	4	502	1	0	0	0	0	1	0	0	0	14634	246	9	5	488	5	SLC40A1	2	190428477	Missense_Mutation	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	142400506	190428477	52770896	10	27077											
IKZF2	22807	hgsc.bcm.edu;ucsc.edu	37	2	213872774	213872774	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:213872774A>G	ENST00000434687.1	-	9	1200	c.891T>C	c.(889-891)atT>atC	p.I297I	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Silent_p.I225I|IKZF2_ENST00000342002.2_Silent_p.I303I|IKZF2_ENST00000421754.2_Silent_p.I223I|IKZF2_ENST00000374327.4_Silent_p.I152I|IKZF2_ENST00000374319.4_Silent_p.I271I|IKZF2_ENST00000457361.1_Silent_p.I297I|AC079610.1_ENST00000415387.1_RNA			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	297					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TATCAAAGTGAATATCTGGGT	0.403																																																0													56	54	55					2																	213872774		2203	4300	6503	SO:0001819	synonymous_variant	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.891T>C	2.37:g.213872774A>G			Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	CCDS2395.1																																																																																				0.403	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		G	213872774	A	G	213872774	2	3	502	1	0	0	0	0	0	0	0	1	7617	242	9	3		3	IKZF2	2	213872774	Silent	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	23444297	213872774	29326599	11	27078											
STK11IP	114790	hgsc.bcm.edu	37	2	220466384	220466384	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:220466384G>T	ENST00000456909.1	+	4	379	c.289G>T	c.(289-291)Ggc>Tgc	p.G97C	STK11IP_ENST00000295641.10_Missense_Mutation_p.G108C|STK11IP_ENST00000459692.1_3'UTR			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	108					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTGGTCCTGGCCCCACAGG	0.517																																																0													17	17	17					2																	220466384		1877	4118	5995	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.289G>T	2.37:g.220466384G>T	ENSP00000389383:p.Gly97Cys		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37		.	.	.	.	.	.	.	.	.	.	G	12.20	1.867945	0.32977	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05258	3.48;3.47	4.84	4.84	0.62591	.	0.388875	0.27219	N	0.020364	T	0.18130	0.0435	L	0.47716	1.5	0.21627	N	0.999617	D;D;D;P	0.89917	1.0;0.966;1.0;0.783	D;P;D;P	0.76575	0.988;0.535;0.988;0.494	T	0.02352	-1.1172	10	0.39692	T	0.17	-18.6299	14.9731	0.71249	0.0:0.0:1.0:0.0	.	108;108;108;108	B4DUE4;B4DII2;Q8N1F8-2;Q8N1F8	.;.;.;S11IP_HUMAN	C	97;108;108	ENSP00000389383:G97C;ENSP00000295641:G108C	ENSP00000295641:G108C	G	+	1	0	STK11IP	220174628	0.002000	0.14202	0.500000	0.27589	0.160000	0.22226	0.973000	0.29422	2.516000	0.84829	0.655000	0.94253	GGC		0.517	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		T	220466384	G	T	220466384	3	4	502	1	0	0	0	0	1	0	0	0	15293	1348	47	4	336	4	STK11IP	2	220466384	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	6593610	220466384	22732989	12	27079											
SEPT2	4735	hgsc.bcm.edu	37	2	242276812	242276812	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:242276812C>G	ENST00000391973.2	+	6	885	c.357C>G	c.(355-357)atC>atG	p.I119M	SEPT2_ENST00000401990.1_Missense_Mutation_p.I129M|SEPT2_ENST00000360051.3_Missense_Mutation_p.I119M|SEPT2_ENST00000407971.1_Missense_Mutation_p.I79M|SEPT2_ENST00000391971.2_Missense_Mutation_p.I119M|SEPT2_ENST00000402092.2_Missense_Mutation_p.I119M	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	119	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		AGACAATTATCTCCTATATTG	0.413																																																0													128	123	124					2																	242276812		2203	4300	6503	SO:0001583	missense	4735			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"Septins"	7729	protein-coding gene	gene with protein product		601506	"neural precursor cell expressed, developmentally down-regulated 5"	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.357C>G	2.37:g.242276812C>G	ENSP00000375834:p.Ile119Met		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	CCDS2548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.08|17.08	3.298853|3.298853	0.60195|0.60195	.|.	.|.	ENSG00000168385|ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000436795;ENST00000411484;ENST00000402092;ENST00000443492;ENST00000437066;ENST00000391972;ENST00000449239|ENST00000457874	T;T;T;T;T;T;T;T;T;T;T;T|.	0.54479|.	1.36;1.36;1.36;1.36;1.36;0.57;1.36;1.36;1.36;0.57;1.36;1.36|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63768|0.63768	0.2539|0.2539	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	D;D;P|.	0.60575|.	0.984;0.988;0.921|.	P;P;P|.	0.62491|.	0.886;0.903;0.899|.	T|T	0.61422|0.61422	-0.7066|-0.7066	10|5	0.37606|.	T|.	0.19|.	.|.	13.2576|13.2576	0.60087|0.60087	0.0:0.9245:0.0:0.0755|0.0:0.9245:0.0:0.0755	.|.	154;79;119|.	Q15019-2;B5MCX3;Q15019|.	.;.;SEPT2_HUMAN|.	M|C	119;79;119;119;129;79;119;130;119;79;119;154;119|91	ENSP00000375834:I119M;ENSP00000397195:I79M;ENSP00000353157:I119M;ENSP00000375832:I119M;ENSP00000385109:I129M;ENSP00000384525:I79M;ENSP00000406181:I119M;ENSP00000394666:I130M;ENSP00000385172:I119M;ENSP00000399195:I79M;ENSP00000412434:I119M;ENSP00000391717:I119M|.	ENSP00000353157:I119M|.	I|S	+|+	3|2	3|0	SEPT2|SEPT2	241925485|241925485	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.717000|0.717000	0.41224|0.41224	0.999000|0.999000	0.29757|0.29757	2.479000|2.479000	0.83701|0.83701	0.655000|0.655000	0.94253|0.94253	ATC|TCT		0.413	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		G	242276812	C	G	242276812	3	3	502	1	0	0	0	0	1	0	0	0	14070	903	32	4	375	4	SEPT2	2	242276812	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	21810428	242276812	922561	13	27080											
HYAL1	3373	hgsc.bcm.edu;ucsc.edu	37	3	50338003	50338003	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr3:50338003C>T	ENST00000266031.4	-	3	1834	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	HYAL3_ENST00000336307.1_5'Flank|HYAL3_ENST00000359051.3_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.E407K|NAT6_ENST00000443094.2_5'Flank|NAT6_ENST00000354862.4_5'Flank|HYAL1_ENST00000457214.2_Missense_Mutation_p.E225K|HYAL1_ENST00000395144.2_Missense_Mutation_p.E407K|NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000417393.1_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.E148K|HYAL1_ENST00000395143.2_Missense_Mutation_p.E377K			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	407	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCTGATCTTCAAGTGAGAGG	0.607																																																0													89	89	89					3																	50338003		2203	4300	6503	SO:0001583	missense	3373			U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1219G>A	3.37:g.50338003C>T	ENSP00000266031:p.Glu407Lys		Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499276	0.26861	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.30448	2.28;2.28;2.28;1.95;1.54;1.53	5.39	1.32	0.21799	Epidermal growth factor-like (1);	0.865966	0.10383	N	0.681269	T	0.16385	0.0394	N	0.17379	0.485	0.09310	N	0.999999	B;B	0.15930	0.015;0.003	B;B	0.15484	0.013;0.004	T	0.33803	-0.9854	10	0.09590	T	0.72	-5.2419	8.8959	0.35465	0.0:0.6571:0.0:0.3429	.	377;407	Q12794-2;Q12794	.;HYAL1_HUMAN	K	407;407;407;377;225;148	ENSP00000378576:E407K;ENSP00000266031:E407K;ENSP00000346068:E407K;ENSP00000378575:E377K;ENSP00000393358:E225K;ENSP00000390149:E148K	ENSP00000266031:E407K	E	-	1	0	HYAL1	50313007	0.000000	0.05858	0.127000	0.21898	0.066000	0.16364	0.052000	0.14163	0.200000	0.20447	0.462000	0.41574	GAA		0.607	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			T	50338003	C	T	50338003	3	4	502	1	0	0	0	0	1	0	0	0	7465	835	29	2	92	2	HYAL1	3	50338003	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10		50338003	147684427	14	27081											
BAP1	51533	hgsc.bcm.edu;ucsc.edu	37	3	52442023	52442023	+	5'Flank	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr3:52442023C>A	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Missense_Mutation_p.G109V|BAP1_ENST00000296288.5_Missense_Mutation_p.G109V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CAGGGTGGGTCCCAGGTCCAC	0.557																																																0													61	53	56					3																	52442023		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442023C>A	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269214	0.95429	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	T;T;T	0.62364	0.03;0.03;0.03	5.49	5.49	0.81192	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	D	0.86990	0.6066	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91134	0.4940	10	0.87932	D	0	-3.0683	19.3688	0.94475	0.0:1.0:0.0:0.0	.	109	Q92560	BAP1_HUMAN	V	109;109;30	ENSP00000417132:G109V;ENSP00000296288:G109V;ENSP00000417776:G30V	ENSP00000296288:G109V	G	-	2	0	BAP1	52417063	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.575000	0.82447	2.589000	0.87451	0.561000	0.74099	GGA		0.557	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		A	52442023	C	A	52442023	1	1	502	0	1	0	0	0	0	0	0	0	1311	855	30	4		4	BAP1	3	52442023	5'Flank	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	2104020	52442023	145580407	15	27082											
PIK3CA	5290	hgsc.bcm.edu;ucsc.edu	37	3	178948101	178948101	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr3:178948101A>G	ENST00000263967.3	+	20	3030	c.2873A>G	c.(2872-2874)cAg>cGg	p.Q958R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	958	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTTTTGACACAGGATTTCTTA	0.328		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	0													81	80	80					3																	178948101		1815	4075	5890	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2873A>G	3.37:g.178948101A>G	ENSP00000263967:p.Gln958Arg		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124871	0.56613	.	.	ENSG00000121879	ENST00000263967	T	0.78924	-1.22	4.99	4.99	0.66335	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.61223	0.2330	N	0.11064	0.09	0.80722	D	1	B	0.28208	0.203	B	0.25291	0.059	T	0.60924	-0.7166	10	0.36615	T	0.2	-14.629	14.9656	0.71188	1.0:0.0:0.0:0.0	.	958	P42336	PK3CA_HUMAN	R	958	ENSP00000263967:Q958R	ENSP00000263967:Q958R	Q	+	2	0	PIK3CA	180430795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.807000	0.91935	1.990000	0.58119	0.477000	0.44152	CAG		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			G	178948101	A	G	178948101	3	3	502	1	0	0	0	0	1	0	0	0	11915	188	7	3	2947	3	PIK3CA	3	178948101	Missense_Mutation	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	126506078	178948101	19074329	16	27083											
FAM13A	10144	hgsc.bcm.edu;ucsc.edu	37	4	89702427	89702427	+	Silent	SNP	G	G	T	rs543539437		TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr4:89702427G>T	ENST00000264344.5	-	11	1554	c.1347C>A	c.(1345-1347)gtC>gtA	p.V449V	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Silent_p.V109V|FAM13A_ENST00000395002.2_Silent_p.V123V|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000513837.1_Silent_p.V95V|FAM13A_ENST00000508369.1_Silent_p.V123V	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	449					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTACCTTTTCGACTTCCTGAG	0.373																																																0													107	105	105					4																	89702427		2203	4300	6503	SO:0001819	synonymous_variant	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1347C>A	4.37:g.89702427G>T			B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	CCDS34029.1																																																																																				0.373	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			T	89702427	G	T	89702427	2	4	502	1	0	0	0	0	0	0	0	1	5454	1045	37	4		4	FAM13A	4	89702427	Silent	SNP	G	TCGA-CJ-4873-01A-01D-1373-10		89702427	101451849	17	27084											
CEP72	55722	hgsc.bcm.edu;ucsc.edu	37	5	624633	624633	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:624633T>A	ENST00000264935.5	+	4	541	c.451T>A	c.(451-453)Ttt>Att	p.F151I	CEP72_ENST00000444221.1_Missense_Mutation_p.F151I	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	151					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CCGACTGCATTTTGCATCAGA	0.572																																																0													84	76	79					5																	624633		2203	4300	6503	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.451T>A	5.37:g.624633T>A	ENSP00000264935:p.Phe151Ile		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403871	0.62288	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.24538	2.59;1.85	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.91459	3.21	0.44694	D	0.997689	D	0.65815	0.995	P	0.59424	0.857	T	0.65751	-0.6092	10	0.87932	D	0	-13.4807	13.0845	0.59132	0.0:0.0:0.0:1.0	.	151	Q9P209	CEP72_HUMAN	I	151	ENSP00000264935:F151I;ENSP00000392052:F151I	ENSP00000264935:F151I	F	+	1	0	CEP72	677633	1.000000	0.71417	0.272000	0.24630	0.004000	0.04260	4.474000	0.60203	2.130000	0.65690	0.533000	0.62120	TTT		0.572	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		A	624633	T	A	624633	3	1	502	1	0	0	0	0	1	0	0	0	3262	1841	64	5	465	5	CEP72	5	624633	Missense_Mutation	SNP	T	TCGA-CJ-4873-01A-01D-1373-10		624633	180290627	18	27085											
TRIP13	9319	hgsc.bcm.edu;ucsc.edu	37	5	916029	916029	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:916029G>A	ENST00000166345.3	+	12	1500	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	382					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GAAGAGCGAGGGCCTCAGCGG	0.547																																																0													155	170	165					5																	916029		2203	4300	6503	SO:0001583	missense	9319			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.1144G>A	5.37:g.916029G>A	ENSP00000166345:p.Gly382Ser		C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.055819	0.76074	.	.	ENSG00000071539	ENST00000166345	D	0.96427	-4.01	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.99414	1.0931	10	0.72032	D	0.01	-17.722	17.703	0.88301	0.0:0.0:1.0:0.0	.	382	Q15645	PCH2_HUMAN	S	382	ENSP00000166345:G382S	ENSP00000166345:G382S	G	+	1	0	TRIP13	969029	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	7.925000	0.87563	2.533000	0.85409	0.561000	0.74099	GGC		0.547	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		A	916029	G	A	916029	3	1	502	1	0	0	0	0	1	0	0	0	16562	1232	43	2	1194	2	TRIP13	5	916029	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	291396	916029	179999231	19	27086											
PDZD2	23037	hgsc.bcm.edu;ucsc.edu	37	5	32089022	32089022	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:32089022C>A	ENST00000438447.1	+	20	5856	c.5468C>A	c.(5467-5469)cCt>cAt	p.P1823H	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1823H			O15018	PDZD2_HUMAN	PDZ domain containing 2	1823					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGGAACAACCTCTAATGCCT	0.463																																																0													113	116	115					5																	32089022		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5468C>A	5.37:g.32089022C>A	ENSP00000402033:p.Pro1823His		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911166	0.33721	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07216	3.21;3.21	5.63	3.7	0.42460	.	1.338040	0.04746	N	0.423776	T	0.10809	0.0264	N	0.24115	0.695	0.09310	N	1	B	0.33448	0.412	B	0.37833	0.259	T	0.47262	-0.9131	10	0.72032	D	0.01	.	13.3758	0.60739	0.0:0.679:0.321:0.0	.	1823	O15018	PDZD2_HUMAN	H	1823;1624;1823	ENSP00000402033:P1823H;ENSP00000282493:P1823H	ENSP00000282493:P1823H	P	+	2	0	PDZD2	32124779	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.817000	0.27281	1.333000	0.45449	0.655000	0.94253	CCT		0.463	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			A	32089022	C	A	32089022	3	1	502	1	0	0	0	0	1	0	0	0	11703	681	24	4	5542	4	PDZD2	5	32089022	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	31172993	32089022	148826238	20	27087											
SPEF2	79925	hgsc.bcm.edu;ucsc.edu	37	5	35800103	35800103	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:35800103G>C	ENST00000356031.3	+	34	5018	c.4864G>C	c.(4864-4866)Gat>Cat	p.D1622H	SPEF2_ENST00000440995.2_Missense_Mutation_p.D1617H|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.D419H	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1622					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTATGAGAAGGATCCACCCCA	0.458																																																0													253	231	238					5																	35800103		1982	4163	6145	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4864G>C	5.37:g.35800103G>C	ENSP00000348314:p.Asp1622His		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701099	0.30142	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.63255	-0.03;-0.03;-0.03	5.57	1.85	0.25348	.	0.687154	0.15426	N	0.262969	T	0.69477	0.3115	L	0.54323	1.7	0.09310	N	1	D;D;P	0.71674	0.998;0.963;0.938	D;P;P	0.64877	0.93;0.73;0.541	T	0.58103	-0.7695	10	0.59425	D	0.04	.	8.6349	0.33941	0.3656:0.0:0.6344:0.0	.	419;1617;1622	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	H	1622;1617;419	ENSP00000348314:D1622H;ENSP00000412125:D1617H;ENSP00000303843:D419H	ENSP00000303843:D419H	D	+	1	0	SPEF2	35835860	0.013000	0.17824	0.381000	0.26106	0.275000	0.26752	1.450000	0.35134	0.325000	0.23359	-0.291000	0.09656	GAT		0.458	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		C	35800103	G	C	35800103	3	2	502	1	0	0	0	0	1	0	0	0	15040	1174	41	4	5019	4	SPEF2	5	35800103	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	3711081	35800103	145115157	21	27088											
DAB2	1601	hgsc.bcm.edu	37	5	39382723	39382723	+	Silent	SNP	A	A	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:39382723A>C	ENST00000320816.6	-	10	1805	c.1338T>G	c.(1336-1338)gcT>gcG	p.A446A	DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Silent_p.A425A|DAB2_ENST00000545653.1_Silent_p.A425A	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	446	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AATTCACCTTAGCAGTCCTTC	0.493																																																0													159	161	161					5																	39382723		2203	4300	6503	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1338T>G	5.37:g.39382723A>C			A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.493	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		C	39382723	A	C	39382723	2	2	502	1	0	0	0	0	0	0	0	1	4220	407	15	5		5	DAB2	5	39382723	Silent	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	3582620	39382723	141532537	22	27089											
CDKL3	51265	hgsc.bcm.edu;ucsc.edu	37	5	133643866	133643866	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:133643866C>A	ENST00000265334.4	-	9	1445	c.1327G>T	c.(1327-1329)Gca>Tca	p.A443S	CDKL3_ENST00000523054.1_Missense_Mutation_p.A254S|CDKL3_ENST00000609654.1_Missense_Mutation_p.A254S|CDKL3_ENST00000435211.1_Missense_Mutation_p.A443S|CDKL3_ENST00000609383.1_Missense_Mutation_p.A148S|CDKL3_ENST00000435240.2_Missense_Mutation_p.A148S|CDKL3_ENST00000521755.1_3'UTR|CDKL3_ENST00000521118.1_Missense_Mutation_p.A443S|CDKL3_ENST00000536186.1_Missense_Mutation_p.A148S|CDKL3_ENST00000523832.1_Missense_Mutation_p.A443S|CTD-2410N18.4_ENST00000518409.1_RNA	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	443					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGAGATTTGCAGCCATCAAA	0.393																																																0													77	74	75					5																	133643866		1861	4108	5969	SO:0001583	missense	51265			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"Cyclin-dependent kinases"	15483	protein-coding gene	gene with protein product	"serine-threonine protein kinase NKIAMRE"	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1327G>T	5.37:g.133643866C>A	ENSP00000265334:p.Ala443Ser		D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	C	7.392	0.630979	0.14322	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.73681	0.7;0.64;-0.73;-0.57;-0.77;-0.68;-0.68	5.8	2.86	0.33363	.	0.413650	0.23365	N	0.048974	T	0.47229	0.1434	N	0.11560	0.145	0.25080	N	0.990934	B;B;B;B;B	0.17038	0.005;0.007;0.02;0.001;0.001	B;B;B;B;B	0.21360	0.011;0.011;0.034;0.003;0.003	T	0.21895	-1.0232	10	0.12103	T	0.63	-16.5681	3.4418	0.07466	0.2692:0.4455:0.0:0.2853	.	254;148;148;254;443	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	S	148;148;443;254;443;443;443	ENSP00000441545:A148S;ENSP00000399807:A148S;ENSP00000265334:A443S;ENSP00000428500:A254S;ENSP00000428689:A443S;ENSP00000430496:A443S;ENSP00000395559:A443S	ENSP00000265334:A443S	A	-	1	0	CDKL3	133671765	0.998000	0.40836	0.995000	0.50966	0.743000	0.42351	0.540000	0.23191	0.675000	0.31264	0.650000	0.86243	GCA		0.393	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		A	133643866	C	A	133643866	3	1	502	1	0	0	0	0	1	0	0	0	3157	710	25	4	475	4	CDKL3	5	133643866	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	94261143	133643866	47271394	23	27090											
HARS	3035	hgsc.bcm.edu;ucsc.edu	37	5	140057269	140057269	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:140057269T>C	ENST00000504156.1	-	7	1419	c.700A>G	c.(700-702)Atc>Gtc	p.I234V	HARS_ENST00000415192.2_Missense_Mutation_p.I160V|HARS_ENST00000504366.1_Missense_Mutation_p.I165V|HARS_ENST00000448240.1_Intron|HARS_ENST00000457527.2_Missense_Mutation_p.I214V|HARS_ENST00000438307.2_Missense_Mutation_p.I194V|HARS_ENST00000431330.2_Missense_Mutation_p.I120V|HARS_ENST00000307633.3_Missense_Mutation_p.I174V	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	234					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GAGGAGCAGATGGTACGGAAC	0.478																																																0													238	228	232					5																	140057269		2203	4300	6503	SO:0001583	missense	3035			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4816	protein-coding gene	gene with protein product	"histidine tRNA ligase 1, cytoplasmic"	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.700A>G	5.37:g.140057269T>C	ENSP00000425634:p.Ile234Val		B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679215	0.47886	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	4.97	4.97	0.65823	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.46718	0.1407	L	0.50993	1.605	0.80722	D	1	B;B;P;B;B;B;B;B	0.38565	0.009;0.387;0.637;0.198;0.044;0.071;0.08;0.044	B;B;P;B;B;B;B;B	0.51016	0.008;0.138;0.656;0.199;0.199;0.1;0.199;0.074	T	0.34502	-0.9826	10	0.24483	T	0.36	-4.184	8.5306	0.33333	0.0:0.1502:0.0:0.8498	.	124;120;160;174;194;234;214;234	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	V	234;214;120;165;174;194;160;124	ENSP00000425634:I234V;ENSP00000387893:I214V;ENSP00000393244:I120V;ENSP00000430063:I165V;ENSP00000304668:I174V;ENSP00000411511:I194V;ENSP00000411085:I160V;ENSP00000425889:I124V	ENSP00000304668:I174V	I	-	1	0	HARS	140037453	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	2.060000	0.41394	2.209000	0.71365	0.533000	0.62120	ATC		0.478	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		C	140057269	T	C	140057269	3	2	502	1	0	0	0	0	1	0	0	0	6961	1464	51	3	857	3	HARS	5	140057269	Missense_Mutation	SNP	T	TCGA-CJ-4873-01A-01D-1373-10	6413403	140057269	40857991	24	27091											
MAML1	9794	hgsc.bcm.edu	37	5	179195993	179195993	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:179195993A>G	ENST00000292599.3	+	3	2137	c.1874A>G	c.(1873-1875)cAg>cGg	p.Q625R	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCAGCATCAGTTGCTTTTG	0.557																																																0													104	103	104					5																	179195993		2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1874A>G	5.37:g.179195993A>G	ENSP00000292599:p.Gln625Arg			Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885261	0.51908	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.49432	0.78	4.72	4.72	0.59763	.	0.180330	0.38381	N	0.001706	T	0.52386	0.1731	M	0.81802	2.56	0.52501	D	0.999959	P;B	0.41848	0.763;0.242	B;B	0.39840	0.311;0.059	T	0.62205	-0.6903	10	0.66056	D	0.02	-4.5613	13.8754	0.63648	1.0:0.0:0.0:0.0	.	662;625	Q59GH4;Q92585	.;MAML1_HUMAN	R	625;662	ENSP00000292599:Q625R	ENSP00000292599:Q625R	Q	+	2	0	MAML1	179128599	0.997000	0.39634	0.893000	0.35052	0.992000	0.81027	4.146000	0.58072	1.758000	0.51981	0.459000	0.35465	CAG		0.557	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		G	179195993	A	G	179195993	3	3	502	1	0	0	0	0	1	0	0	0	9207	188	7	3	1884	3	MAML1	5	179195993	Missense_Mutation	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	39138724	179195993	1719267	25	27092											
MGAT4B	11282	hgsc.bcm.edu	37	5	179228972	179228972	+	Intron	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:179228972G>T	ENST00000292591.7	-	2	448				MGAT4B_ENST00000337755.5_Missense_Mutation_p.A47E|MGAT4B_ENST00000521305.1_Intron	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B						cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACGTCGCCTGCAGGTGGTAG	0.642											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(13;414 434 4098 22176 23230)											0													56	64	61					5																	179228972		2203	4300	6503	SO:0001627	intron_variant	11282			AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7048	protein-coding gene	gene with protein product		604561	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.98-3C>A	5.37:g.179228972G>T		1952	A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	CCDS4448.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534824	0.27475	.	.	ENSG00000161013	ENST00000337755	T	0.31769	1.48	5.07	5.07	0.68467	.	0.572493	0.12820	U	0.436539	T	0.14700	0.0355	N	0.08118	0	0.80722	D	1	B	0.19583	0.037	B	0.14023	0.01	T	0.03945	-1.0990	10	0.05833	T	0.94	6.4856	11.8818	0.52579	0.0806:0.0:0.9194:0.0	.	47	A8MPR0	.	E	47	ENSP00000338487:A47E	ENSP00000338487:A47E	A	-	2	0	MGAT4B	179161578	1.000000	0.71417	0.936000	0.37596	0.410000	0.31052	4.980000	0.63812	2.364000	0.80123	0.505000	0.49811	GCA		0.642	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		T	179228972	G	T	179228972	1	4	502	0	1	0	0	0	0	0	0	0	9548	1319	46	4		4	MGAT4B	5	179228972	Intron	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	32979	179228972	1686288	26	27093											
BAI3	577	hgsc.bcm.edu;ucsc.edu	37	6	69685178	69685178	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr6:69685178A>G	ENST00000370598.1	+	10	2501	c.1680A>G	c.(1678-1680)gaA>gaG	p.E560E		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	560					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTTCTGGGAACAGCCGAGCT	0.448																																																0													88	80	83					6																	69685178		2203	4300	6503	SO:0001819	synonymous_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1680A>G	6.37:g.69685178A>G			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.448	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			G	69685178	A	G	69685178	2	3	502	1	0	0	0	0	0	0	0	1	1300	40	2	3		3	BAI3	6	69685178	Silent	SNP	A	TCGA-CJ-4873-01A-01D-1373-10		69685178	101429889	27	27094											
C6orf97	80129	hgsc.bcm.edu	37	6	151857578	151857578	+	Silent	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr6:151857578T>C	ENST00000239374.7	+	2	282	c.183T>C	c.(181-183)tcT>tcC	p.S61S	CCDC170_ENST00000367290.5_Silent_p.S61S|CCDC170_ENST00000544131.1_3'UTR	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	61																	GTGCTCAGTCTGAGGTAAGAT	0.458																																																0													83	79	80					6																	151857578		1909	4122	6031	SO:0001819	synonymous_variant	0			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.183T>C	6.37:g.151857578T>C			Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	CCDS43515.1																																																																																				0.458	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		C	151857578	T	C	151857578	2	2	502	1	0	0	0	0	0	0	0	1	2376	1567	55	3		3	C6orf97	6	151857578	Silent	SNP	T	TCGA-CJ-4873-01A-01D-1373-10	82172400	151857578	19257489	28	27095											
HECW1	23072	hgsc.bcm.edu	37	7	43484310	43484310	+	Silent	SNP	T	T	C	rs73098706	byFrequency	TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr7:43484310T>C	ENST00000395891.2	+	11	2144	c.1539T>C	c.(1537-1539)tcT>tcC	p.S513S	HECW1_ENST00000453890.1_Silent_p.S513S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	513	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAGATGTGTCTACCCTGGAGC	0.632													T|||	1478	0.295128	0.2307	0.2839	5008	,	,		18387	0.1508		0.4155	False		,,,				2504	0.4151															0								T		1038,3216		138,762,1227	26	33	31		1539	-5.1	0	7	dbSNP_130	31	3277,5169		673,1931,1619	no	coding-synonymous	HECW1	NM_015052.3		811,2693,2846	CC,CT,TT		38.7994,24.4006,33.9764		513/1607	43484310	4315,8385	2127	4223	6350	SO:0001819	synonymous_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1539T>C	7.37:g.43484310T>C			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	CCDS5469.2																																																																																				0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		C	43484310	T	C	43484310	2	2	502	1	0	0	0	0	0	0	0	1	7044	1509	53	3		3	HECW1	7	43484310	Silent	SNP	T	TCGA-CJ-4873-01A-01D-1373-10		43484310	115654353	29	27096											
ABCB4	5244	hgsc.bcm.edu;ucsc.edu	37	7	87049340	87049340	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr7:87049340T>C	ENST00000265723.4	-	19	2479	c.2368A>G	c.(2368-2370)Atg>Gtg	p.M790V	ABCB4_ENST00000358400.3_Missense_Mutation_p.M790V|ABCB4_ENST00000359206.3_Missense_Mutation_p.M790V|ABCB4_ENST00000545634.1_Missense_Mutation_p.M790V|ABCB4_ENST00000453593.1_Missense_Mutation_p.M790V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	790	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTAAAAGCCATTGACCGCAGT	0.413																																																0													178	164	169					7																	87049340		2203	4300	6503	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2368A>G	7.37:g.87049340T>C	ENSP00000265723:p.Met790Val		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.887683	0.33348	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	6.03	3.51	0.40186	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.546545	0.21901	N	0.067449	D	0.89188	0.6644	M	0.80746	2.51	0.36134	D	0.846349	B;B;B	0.16802	0.017;0.016;0.019	B;B;B	0.29440	0.052;0.038;0.102	D	0.88926	0.3369	10	0.52906	T	0.07	-16.0732	11.1797	0.48620	0.245:0.0:0.0:0.755	.	790;790;790	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	V	790	ENSP00000352135:M790V;ENSP00000351172:M790V;ENSP00000265723:M790V;ENSP00000392983:M790V;ENSP00000437465:M790V	ENSP00000265723:M790V	M	-	1	0	ABCB4	86887276	0.996000	0.38824	0.789000	0.31954	0.412000	0.31113	2.678000	0.46900	1.077000	0.40990	0.533000	0.62120	ATG		0.413	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		C	87049340	T	C	87049340	3	2	502	1	0	0	0	0	1	0	0	0	43	1493	52	3	1532	3	ABCB4	7	87049340	Missense_Mutation	SNP	T	TCGA-CJ-4873-01A-01D-1373-10	43565030	87049340	72089323	30	27097											
MBLAC1	255374	hgsc.bcm.edu;ucsc.edu	37	7	99725646	99725646	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr7:99725646C>A	ENST00000398075.2	+	2	1027	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	AC073842.19_ENST00000376482.3_RNA|RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	210							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GAGTGAAGACCCCGCAGCCCA	0.662																																																0													35	44	41					7																	99725646		2084	4214	6298	SO:0001583	missense	255374			BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.628C>A	7.37:g.99725646C>A	ENSP00000381150:p.Pro210Thr		Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	37	CCDS43620.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528404	0.64860	.	.	ENSG00000214309	ENST00000398075	T	0.80566	-1.39	4.68	4.68	0.58851	Beta-lactamase-like (2);	0.216210	0.29806	U	0.011158	T	0.80768	0.4686	L	0.46670	1.46	0.46131	D	0.99888	P	0.47484	0.896	P	0.51516	0.672	T	0.76812	-0.2821	10	0.20519	T	0.43	.	15.1263	0.72486	0.0:1.0:0.0:0.0	.	210	A4D2B0	MBLC1_HUMAN	T	210	ENSP00000381150:P210T	ENSP00000381150:P210T	P	+	1	0	MBLAC1	99563582	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	2.467000	0.45093	2.440000	0.82611	0.561000	0.74099	CCC		0.662	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		A	99725646	C	A	99725646	3	1	502	1	0	0	0	0	1	0	0	0	9353	623	22	4	630	4	MBLAC1	7	99725646	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	12676306	99725646	59413017	31	27098											
AKR1B15	441282	hgsc.bcm.edu	37	7	134261183	134261183	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr7:134261183G>A	ENST00000457545.2	+	9	1085		c.e9+1		AKR1B15_ENST00000423958.1_Splice_Site	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15								oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CACAGCCCAGGTACCATATTT	0.458																																																0													53	60	58					7																	134261183		2203	4300	6503	SO:0001630	splice_region_variant	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.825+1G>A	7.37:g.134261183G>A			C9J3V2	Splice_Site	SNP	ENST00000457545.2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405444	0.25378	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	.	.	.	3.46	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8209	0.40883	0.1077:0.0:0.8923:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKR1B15	133911723	1.000000	0.71417	0.961000	0.40146	0.296000	0.27459	7.110000	0.77069	0.633000	0.30452	0.194000	0.17425	.		0.458	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2		Intron	A	134261183	G	A	134261183	5	1	502	1	0	0	0	0	0	0	1	0	468	1275	44	2	852	2	AKR1B15	7	134261183	Splice_Site	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	34535537	134261183	24877480	32	27099											
ZNF862	643641	hgsc.bcm.edu;ucsc.edu	37	7	149559020	149559020	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr7:149559020C>T	ENST00000223210.4	+	7	3016	c.2771C>T	c.(2770-2772)aCa>aTa	p.T924I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	924					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGGGAGAGGACAGTCCTGACG	0.577																																																0													101	106	104					7																	149559020		2045	4195	6240	SO:0001583	missense	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2771C>T	7.37:g.149559020C>T	ENSP00000223210:p.Thr924Ile		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.395865	0.01175	.	.	ENSG00000106479	ENST00000223210	T	0.01015	5.44	5.39	-3.02	0.05446	.	1.067180	0.07226	N	0.861641	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.46803	-0.9165	10	0.08179	T	0.78	-6.1668	10.8204	0.46601	0.0:0.5026:0.0:0.4974	.	924	O60290	ZN862_HUMAN	I	924	ENSP00000223210:T924I	ENSP00000223210:T924I	T	+	2	0	ZNF862	149189953	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	-0.192000	0.09587	-0.865000	0.04073	-0.768000	0.03414	ACA		0.577	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		T	149559020	C	T	149559020	3	4	502	1	0	0	0	0	1	0	0	0	18200	478	17	2	2797	2	ZNF862	7	149559020	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	15297837	149559020	9579643	33	27100											
GBA2	57704	hgsc.bcm.edu;ucsc.edu	37	9	35738047	35738047	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr9:35738047T>C	ENST00000378103.3	-	15	2823	c.2300A>G	c.(2299-2301)gAa>gGa	p.E767G	GBA2_ENST00000378094.4_Missense_Mutation_p.E767G|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_Missense_Mutation_p.E68G|GBA2_ENST00000545786.1_Missense_Mutation_p.E773G	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	767					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTGTCTCCTTCTCCTAGGCC	0.522																																																0													37	32	34					9																	35738047		2203	4300	6503	SO:0001583	missense	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2300A>G	9.37:g.35738047T>C	ENSP00000367343:p.Glu767Gly		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527795	0.44969	.	.	ENSG00000070610	ENST00000378103;ENST00000378088;ENST00000378094;ENST00000545786	.	.	.	5.8	5.8	0.92144	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.166092	0.53938	D	0.000050	T	0.54415	0.1857	L	0.53249	1.67	0.47994	D	0.999569	P;B;P;P	0.43231	0.763;0.372;0.485;0.801	B;B;B;B	0.41374	0.242;0.163;0.173;0.355	T	0.60234	-0.7303	9	0.66056	D	0.02	-22.9755	11.7778	0.51995	0.0:0.0:0.1468:0.8532	.	773;767;595;767	F5H7P6;Q9HCG7-2;B4DMF0;Q9HCG7	.;.;.;GBA2_HUMAN	G	767;68;767;773	.	ENSP00000367328:E68G	E	-	2	0	GBA2	35728047	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.107000	0.71517	2.224000	0.72417	0.533000	0.62120	GAA		0.522	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		C	35738047	T	C	35738047	3	2	502	1	0	0	0	0	1	0	0	0	6269	1783	62	3	495	3	GBA2	9	35738047	Missense_Mutation	SNP	T	TCGA-CJ-4873-01A-01D-1373-10		35738047	105475384	34	27101											
ABCA1	19	hgsc.bcm.edu;ucsc.edu	37	9	107573139	107573139	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr9:107573139T>C	ENST00000374736.3	-	29	4511	c.4117A>G	c.(4117-4119)Aag>Gag	p.K1373E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1373					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTGGGGTACTTGCCAAAGGGT	0.532																																																0													187	159	168					9																	107573139		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4117A>G	9.37:g.107573139T>C	ENSP00000363868:p.Lys1373Glu		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.235508	0.22626	.	.	ENSG00000165029	ENST00000374736	D	0.86769	-2.17	5.55	5.55	0.83447	.	0.137385	0.64402	D	0.000004	T	0.74215	0.3687	N	0.12569	0.235	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.69506	-0.5127	10	0.02654	T	1	.	15.9896	0.80193	0.0:0.0:0.0:1.0	.	1373	O95477	ABCA1_HUMAN	E	1373	ENSP00000363868:K1373E	ENSP00000363868:K1373E	K	-	1	0	ABCA1	106612960	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.962000	0.87912	2.238000	0.73509	0.533000	0.62120	AAG		0.532	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		C	107573139	T	C	107573139	3	2	502	1	0	0	0	0	1	0	0	0	28	1821	63	3	2756	3	ABCA1	9	107573139	Missense_Mutation	SNP	T	TCGA-CJ-4873-01A-01D-1373-10	71835092	107573139	33640292	35	27102											
TBC1D12	23232	hgsc.bcm.edu;ucsc.edu	37	10	96291048	96291048	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr10:96291048T>A	ENST00000225235.4	+	12	2200	c.2090T>A	c.(2089-2091)tTt>tAt	p.F697Y	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	697							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GAATTTTTATTTAGGACTGGA	0.368																																																0													148	138	141					10																	96291048		1819	4087	5906	SO:0001583	missense	23232			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2090T>A	10.37:g.96291048T>A	ENSP00000225235:p.Phe697Tyr		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.721054	0.89205	.	.	ENSG00000108239	ENST00000225235	T	0.12465	2.68	5.31	5.31	0.75309	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	M	0.77406	2.37	0.80722	D	1	P	0.50710	0.938	D	0.64042	0.921	T	0.09015	-1.0694	10	0.56958	D	0.05	-12.8317	13.2709	0.60159	0.0:0.0:0.0:1.0	.	697	O60347	TBC12_HUMAN	Y	697	ENSP00000225235:F697Y	ENSP00000225235:F697Y	F	+	2	0	TBC1D12	96281038	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.234000	0.73211	0.528000	0.53228	TTT		0.368	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			A	96291048	T	A	96291048	3	1	502	1	0	0	0	0	1	0	0	0	15606	1841	64	5	2136	5	TBC1D12	10	96291048	Missense_Mutation	SNP	T	TCGA-CJ-4873-01A-01D-1373-10		96291048	39243699	36	27103											
OR51B4	79339	hgsc.bcm.edu;ucsc.edu	37	11	5322937	5322937	+	Silent	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr11:5322937C>T	ENST00000380224.1	-	1	289	c.240G>A	c.(238-240)ctG>ctA	p.L80L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	80					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(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGACACCCAGGACTGTGG	0.507																																																0													130	120	124					11																	5322937		2201	4297	6498	SO:0001819	synonymous_variant	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.240G>A	11.37:g.5322937C>T			A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	CCDS7757.1																																																																																				0.507	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		T	5322937	C	T	5322937	2	4	502	1	0	0	0	0	0	0	0	1	11092	581	21	2		2	OR51B4	11	5322937	Silent	SNP	C	TCGA-CJ-4873-01A-01D-1373-10		5322937	129683579	37	27104											
SLC22A11	55867	hgsc.bcm.edu;ucsc.edu	37	11	64326672	64326672	+	Silent	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr11:64326672C>T	ENST00000301891.4	+	2	833	c.459C>T	c.(457-459)atC>atT	p.I153I	SLC22A11_ENST00000377585.3_Silent_p.I153I|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Silent_p.I153I	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	153					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TGTCCGGGATCCTGGTGGGCT	0.622																																																0													136	122	127					11																	64326672		2201	4297	6498	SO:0001819	synonymous_variant	55867			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.459C>T	11.37:g.64326672C>T			A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	CCDS8074.1																																																																																				0.622	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		T	64326672	C	T	64326672	2	4	502	1	0	0	0	0	0	0	0	1	14448	845	30	2		2	SLC22A11	11	64326672	Silent	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	59003735	64326672	70679844	38	27105											
TMPRSS5	80975	hgsc.bcm.edu;ucsc.edu	37	11	113568092	113568103	+	In_Frame_Del	DEL	CTCACTTGCGCT	CTCACTTGCGCT	-	rs369568528|rs7939917|rs149253144	byFrequency	TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	CTCACTTGCGCT	CTCACTTGCGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr11:113568092_113568103delCTCACTTGCGCT	ENST00000299882.5	-	5	514_525	c.366_377delAGCGCAAGTGAG	c.(364-378)gaagcgcaagtgagg>gag	p.AQVR123del	TMPRSS5_ENST00000538955.1_In_Frame_Del_p.AQVR79del|TMPRSS5_ENST00000544634.1_In_Frame_Del_p.AQVR123del|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000545579.1_In_Frame_Del_p.AQVR114del|TMPRSS5_ENST00000544476.1_In_Frame_Del_p.AQVR79del|TMPRSS5_ENST00000536856.1_5'UTR	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	123	SRCR.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		TGGCTGATCCCTCACTTGCGCTTCCAGCAAGA	0.557																																																0																																										SO:0001651	inframe_deletion	80975			AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.366_377delAGCGCAAGTGAG	11.37:g.113568092_113568103delCTCACTTGCGCT	ENSP00000299882:p.Ala123_Arg126del			In_Frame_Del	DEL	ENST00000299882.5	37	CCDS44735.1																																																																																				0.557	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		-	113568103	CTCACTTGCGCT	-	113568092	7	5	502	1	0	1	0	1	0	0	0	0	16255	681	24	0	1032	0	TMPRSS5	11	113568092	In_Frame_Del	DEL	CTCACTTGCGCT	TCGA-CJ-4873-01A-01D-1373-10	49241420	113568092	21438424	39	27106											
VWF	7450	hgsc.bcm.edu;ucsc.edu	37	12	6180476	6180476	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:6180476A>G	ENST00000261405.5	-	10	1397	c.1143T>C	c.(1141-1143)aaT>aaC	p.N381N		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	381					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GACATTCTTCATTGCTGCAGA	0.527																																																0													154	127	136					12																	6180476		2203	4300	6503	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1143T>C	12.37:g.6180476A>G			Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		G	6180476	A	G	6180476	2	3	502	1	0	0	0	0	0	0	0	1	17251	214	8	3		3	VWF	12	6180476	Silent	SNP	A	TCGA-CJ-4873-01A-01D-1373-10		6180476	127671419	40	27107	205	2									
VWF	7450	hgsc.bcm.edu;ucsc.edu	37	12	6180485	6180485	+	Silent	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:6180485G>T	ENST00000261405.5	-	10	1388	c.1134C>A	c.(1132-1134)atC>atA	p.I378I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	378					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATTGCTGCAGATCCACTGGC	0.522																																																0													155	128	137					12																	6180485		2203	4300	6503	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1134C>A	12.37:g.6180485G>T			Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6180485	G	T	6180485	2	4	502	1	0	0	0	0	0	0	0	1	17251	932	33	4		4	VWF	12	6180485	Silent	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	9	6180485	127671410	41	27108	205	2									
CD4	920	hgsc.bcm.edu	37	12	6909481	6909481	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:6909481C>T	ENST00000011653.4	+	3	316	c.58C>T	c.(58-60)Cca>Tca	p.P20S	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	20					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AGCGCTCCTCCCAGCAGCCAC	0.537																																																0													45	49	48					12																	6909481		2203	4300	6503	SO:0001583	missense	920			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	protein-coding gene	gene with protein product		186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.58C>T	12.37:g.6909481C>T	ENSP00000011653:p.Pro20Ser		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696216	0.30052	.	.	ENSG00000010610	ENST00000011653;ENST00000539492	T	0.23552	1.9	4.65	-0.94	0.10405	Immunoglobulin-like (1);	0.575371	0.18054	N	0.153167	T	0.19765	0.0475	M	0.67397	2.05	0.09310	N	1	B	0.25312	0.123	B	0.17979	0.02	T	0.23655	-1.0182	10	0.66056	D	0.02	0.6691	1.6532	0.02776	0.1556:0.3576:0.3037:0.1831	.	20	P01730	CD4_HUMAN	S	20	ENSP00000011653:P20S	ENSP00000011653:P20S	P	+	1	0	CD4	6779742	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.160000	0.16462	-0.087000	0.12528	-0.475000	0.04921	CCA		0.537	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		T	6909481	C	T	6909481	3	4	502	1	0	0	0	0	1	0	0	0	3016	623	22	2	64	2	CD4	12	6909481	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	728996	6909481	126942414	42	27109											
SPATS2	65244	hgsc.bcm.edu;ucsc.edu	37	12	49884479	49884479	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:49884479G>A	ENST00000553127.1	+	7	742	c.229G>A	c.(229-231)Gta>Ata	p.V77I	SPATS2_ENST00000552918.1_Missense_Mutation_p.V77I|SPATS2_ENST00000321898.6_Missense_Mutation_p.V77I|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	77						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TGCCAGTGAAGTACTCAAAGA	0.358																																																0													126	117	120					12																	49884479		2203	4300	6503	SO:0001583	missense	65244			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.229G>A	12.37:g.49884479G>A	ENSP00000448228:p.Val77Ile		A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155136	0.78114	.	.	ENSG00000123352	ENST00000550997;ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.24	5.24	0.73138	UBA-like (1);	0.067966	0.64402	D	0.000015	T	0.60779	0.2295	N	0.17379	0.485	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.62914	-0.6753	9	0.44086	T	0.13	-11.1087	14.3399	0.66619	0.0:0.0:1.0:0.0	.	77	Q86XZ4	SPAS2_HUMAN	I	77	.	ENSP00000326841:V77I	V	+	1	0	SPATS2	48170746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.656000	0.67988	2.436000	0.82500	0.579000	0.79373	GTA		0.358	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		A	49884479	G	A	49884479	3	1	502	1	0	0	0	0	1	0	0	0	15024	1029	36	2	243	2	SPATS2	12	49884479	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	42974998	49884479	83967416	43	27110											
SMARCD1	6602	hgsc.bcm.edu;ucsc.edu	37	12	50481179	50481179	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:50481179A>T	ENST00000394963.4	+	5	963	c.565A>T	c.(565-567)Act>Tct	p.T189S	SMARCD1_ENST00000548573.1_5'Flank|SMARCD1_ENST00000381513.4_Missense_Mutation_p.T189S	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CATTTCTAACACTTTCAATCC	0.522																																																0													174	179	177					12																	50481179		2203	4300	6503	SO:0001583	missense	6602			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.565A>T	12.37:g.50481179A>T	ENSP00000378414:p.Thr189Ser			Missense_Mutation	SNP	ENST00000394963.4	37	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252964	0.80135	.	.	ENSG00000066117	ENST00000394963;ENST00000381513	T;T	0.48836	0.8;0.8	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.66297	2.02	0.80722	D	1	P;P;P	0.46952	0.569;0.854;0.887	P;P;P	0.51266	0.493;0.664;0.463	T	0.61501	-0.7050	10	0.52906	T	0.07	-12.8649	15.5158	0.75822	1.0:0.0:0.0:0.0	.	189;189;189	B4DF50;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	S	189	ENSP00000378414:T189S;ENSP00000370924:T189S	ENSP00000370924:T189S	T	+	1	0	SMARCD1	48767446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.047000	0.93823	2.317000	0.78254	0.459000	0.35465	ACT		0.522	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076		T	50481179	A	T	50481179	3	4	502	1	0	0	0	0	1	0	0	0	14783	159	6	5	583	5	SMARCD1	12	50481179	Missense_Mutation	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	596700	50481179	83370716	44	27111											
KIAA0748	9840	hgsc.bcm.edu;ucsc.edu	37	12	55356811	55356811	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:55356811A>G	ENST00000449076.1	-	9	1003	c.871T>C	c.(871-873)Tgt>Cgt	p.C291R	TESPA1_ENST00000531122.1_Missense_Mutation_p.C153R|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_Missense_Mutation_p.C153R|TESPA1_ENST00000524622.1_Missense_Mutation_p.C153R|TESPA1_ENST00000316577.8_Missense_Mutation_p.C291R	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	291					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											GTGTACAGACACATCTTGGAG	0.542																																																0													73	74	73					12																	55356811		1961	4135	6096	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.871T>C	12.37:g.55356811A>G	ENSP00000400892:p.Cys291Arg		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088741	0.76756	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68561	-0.5376	10	0.42905	T	0.14	-13.8196	12.2763	0.54737	1.0:0.0:0.0:0.0	.	291	A2RU30	K0748_HUMAN	R	153;153;291;291;153	ENSP00000435622:C153R;ENSP00000432030:C153R;ENSP00000400892:C291R;ENSP00000312679:C291R;ENSP00000433098:C153R	ENSP00000312679:C291R	C	-	1	0	KIAA0748	53643078	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.819000	0.86621	2.213000	0.71641	0.533000	0.62120	TGT		0.542	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		G	55356811	A	G	55356811	3	3	502	1	0	0	0	0	1	0	0	0	8192	159	6	3	702	3	KIAA0748	12	55356811	Missense_Mutation	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	4875632	55356811	78495084	45	27112											
SLC17A8	246213	hgsc.bcm.edu	37	12	100796248	100796248	+	Silent	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:100796248T>C	ENST00000323346.5	+	7	1207	c.894T>C	c.(892-894)gtT>gtC	p.V298V	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Silent_p.V298V	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	298					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCAACGTGGTTAGTCTAAGTG	0.398																																																0													74	74	74					12																	100796248		2203	4300	6503	SO:0001819	synonymous_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.894T>C	12.37:g.100796248T>C			B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	ENST00000323346.5	37	CCDS9077.1																																																																																				0.398	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		C	100796248	T	C	100796248	2	2	502	1	0	0	0	0	0	0	0	1	14429	1741	61	3		3	SLC17A8	12	100796248	Silent	SNP	T	TCGA-CJ-4873-01A-01D-1373-10	45439437	100796248	33055647	46	27113											
PAH	5053	hgsc.bcm.edu;ucsc.edu	37	12	103246688	103246688	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:103246688A>G	ENST00000553106.1	-	7	1219	c.747T>C	c.(745-747)ctT>ctC	p.L249L	PAH_ENST00000307000.2_Silent_p.L244L|PAH_ENST00000551988.1_5'Flank	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	249			L -> F (in PKU; haplotype 1).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCCGAGAGGAAAGCAGGCCAG	0.542																																																0													76	84	81					12																	103246688		2203	4300	6503	SO:0001819	synonymous_variant	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.747T>C	12.37:g.103246688A>G			Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	CCDS9092.1																																																																																				0.542	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			G	103246688	A	G	103246688	2	3	502	1	0	0	0	0	0	0	0	1	11396	1	1	3		3	PAH	12	103246688	Silent	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	2450440	103246688	30605207	47	27114											
SRRM4	84530	hgsc.bcm.edu;ucsc.edu	37	12	119591354	119591354	+	Missense_Mutation	SNP	C	C	T	rs376043694		TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:119591354C>T	ENST00000267260.4	+	11	1679	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	431	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GTCCTACTCCCGCTCTCCCAG	0.627																																																0								C	CYS/ARG	0,3736		0,0,1868	23	28	27		1291	5.7	1	12		27	1,8149		0,1,4074	no	missense	SRRM4	NM_194286.3	180	0,1,5942	TT,TC,CC		0.0123,0.0,0.0084	probably-damaging	431/612	119591354	1,11885	1868	4075	5943	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1291C>T	12.37:g.119591354C>T	ENSP00000267260:p.Arg431Cys		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742769	0.89573	0.0	1.23E-4	ENSG00000139767	ENST00000267260	T	0.34859	1.34	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	L	0.59436	1.845	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.51172	-0.8739	9	.	.	.	-24.4489	14.6842	0.69037	0.1451:0.8548:0.0:0.0	.	431	A7MD48	SRRM4_HUMAN	C	431	ENSP00000267260:R431C	.	R	+	1	0	SRRM4	118075737	0.985000	0.35326	0.996000	0.52242	0.961000	0.63080	2.671000	0.46842	2.700000	0.92200	0.561000	0.74099	CGC		0.627	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		T	119591354	C	T	119591354	3	4	502	1	0	0	0	0	1	0	0	0	15176	652	23	1	1333	1	SRRM4	12	119591354	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	16344666	119591354	14260541	48	27115											
PDS5B	23047	hgsc.bcm.edu	37	13	33306263	33306263	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr13:33306263A>T	ENST00000315596.10	+	20	2335	c.2149A>T	c.(2149-2151)Aaa>Taa	p.K717*		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	717					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTTACATCACAAATCTAAAAA	0.338																																																0													55	51	52					13																	33306263		1786	4058	5844	SO:0001587	stop_gained	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2149A>T	13.37:g.33306263A>T	ENSP00000313851:p.Lys717*		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Nonsense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	39	7.828900	0.98513	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-26.5825	14.7926	0.69854	1.0:0.0:0.0:0.0	.	.	.	.	X	717	.	ENSP00000313851:K717X	K	+	1	0	PDS5B	32204263	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.123000	0.94387	1.956000	0.56807	0.397000	0.26171	AAA		0.338	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		T	33306263	A	T	33306263	4	4	502	1	0	0	0	0	0	1	0	0	11694	131	5	5	2223	5	PDS5B	13	33306263	Nonsense_Mutation	SNP	A	TCGA-CJ-4873-01A-01D-1373-10		33306263	81863615	49	27116											
PCID2	55795	hgsc.bcm.edu;ucsc.edu	37	13	113854775	113854775	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr13:113854775A>C	ENST00000337344.4	-	2	168	c.92T>G	c.(91-93)tTt>tGt	p.F31C	PCID2_ENST00000375459.1_Missense_Mutation_p.F29C|PCID2_ENST00000246505.5_Missense_Mutation_p.F31C|PCID2_ENST00000375457.2_Missense_Mutation_p.F29C|PCID2_ENST00000375479.2_Missense_Mutation_p.F31C|PCID2_ENST00000375477.1_Missense_Mutation_p.F31C	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	31					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AGGATGTTTAAAAGACACCAA	0.423																																																0													121	121	121					13																	113854775		2203	4300	6503	SO:0001583	missense	55795			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.92T>G	13.37:g.113854775A>C	ENSP00000337405:p.Phe31Cys		A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151654	0.57151	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.45	5.45	0.79879	.	0.049425	0.85682	D	0.000000	T	0.68348	0.2991	M	0.70275	2.135	0.80722	D	1	B;B	0.24651	0.108;0.011	B;B	0.29176	0.099;0.014	T	0.67764	-0.5586	9	0.51188	T	0.08	-11.693	15.2035	0.73159	1.0:0.0:0.0:0.0	.	31;31	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	C	31;31;31;31;29;29;31;29;31	.	ENSP00000246505:F31C	F	-	2	0	PCID2	112902776	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.308000	0.89966	2.064000	0.61679	0.533000	0.62120	TTT		0.423	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		C	113854775	A	C	113854775	3	2	502	1	0	0	0	0	1	0	0	0	11581	14	1	5	1159	5	PCID2	13	113854775	Missense_Mutation	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	80548512	113854775	1315103	50	27117											
FOXN3	1112	hgsc.bcm.edu;ucsc.edu	37	14	89656758	89656758	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr14:89656758A>G	ENST00000345097.4	-	5	897	c.781T>C	c.(781-783)Ttg>Ctg	p.L261L	FOXN3_ENST00000261302.5_Silent_p.L261L|FOXN3_ENST00000555353.1_Intron|FOXN3_ENST00000557258.1_Intron	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	261					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGAGTATTCAAAAGCATCATG	0.413																																																0													97	94	95					14																	89656758		1943	4164	6107	SO:0001819	synonymous_variant	1112				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.781T>C	14.37:g.89656758A>G			Q96II7|Q9UIE7	Silent	SNP	ENST00000345097.4	37	CCDS41977.1																																																																																				0.413	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		G	89656758	A	G	89656758	2	3	502	1	0	0	0	0	0	0	0	1	6023	11	1	3		3	FOXN3	14	89656758	Silent	SNP	A	TCGA-CJ-4873-01A-01D-1373-10		89656758	17692782	51	27118											
BTBD7	55727	hgsc.bcm.edu;ucsc.edu	37	14	93761134	93761134	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr14:93761134T>C	ENST00000334746.5	-	3	539	c.232A>G	c.(232-234)Agg>Ggg	p.R78G	BTBD7_ENST00000555525.1_Missense_Mutation_p.R78G|BTBD7_ENST00000298896.3_Missense_Mutation_p.R78G|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_5'Flank	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	78					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCGGCAGACCTATTAGATTTC	0.448																																																0													141	145	144					14																	93761134		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.232A>G	14.37:g.93761134T>C	ENSP00000335615:p.Arg78Gly		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.450424	0.63290	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525	T	0.44083	0.93	5.9	2.17	0.27698	.	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.75020	0.985;0.977	T	0.56341	-0.7995	10	0.72032	D	0.01	.	14.6792	0.69004	0.0:0.0:0.6899:0.3101	.	78;78	Q9P203-3;Q9P203	.;BTBD7_HUMAN	G	78	ENSP00000335615:R78G	ENSP00000298896:R78G	R	-	1	2	BTBD7	92830887	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.527000	0.53517	0.441000	0.26529	0.533000	0.62120	AGG		0.448	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		C	93761134	T	C	93761134	3	2	502	1	0	0	0	0	1	0	0	0	1548	1521	53	3	3277	3	BTBD7	14	93761134	Missense_Mutation	SNP	T	TCGA-CJ-4873-01A-01D-1373-10	4104376	93761134	13588406	52	27119											
HSP90AA1	3320	hgsc.bcm.edu;ucsc.edu	37	14	102550300	102550300	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr14:102550300C>T	ENST00000216281.8	-	7	1373	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D211N|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.D512N	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	390					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCCTCCGAGTCTACCACCCCT	0.363																																																0													37	41	40					14																	102550300		2202	4298	6500	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1168G>A	14.37:g.102550300C>T	ENSP00000216281:p.Asp390Asn		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	29.2	4.987483	0.93106	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.19806	2.12;2.12;2.12	3.85	3.85	0.44370	Ribosomal protein S5 domain 2-type fold (1);	0.124211	0.51477	U	0.000096	T	0.68760	0.3036	H	0.99884	4.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.85746	0.1340	10	0.87932	D	0	.	15.7418	0.77905	0.0:1.0:0.0:0.0	.	211;512;390	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	N	390;512;211	ENSP00000216281:D390N;ENSP00000335153:D512N;ENSP00000396189:D211N	ENSP00000216281:D390N	D	-	1	0	HSP90AA1	101620053	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.760000	0.68793	1.868000	0.54150	0.561000	0.74099	GAC		0.363	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		T	102550300	C	T	102550300	3	4	502	1	0	0	0	0	1	0	0	0	7403	913	32	2	1050	2	HSP90AA1	14	102550300	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	8789166	102550300	4799240	53	27120											
CAPN3	825	hgsc.bcm.edu;ucsc.edu	37	15	42686505	42686505	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr15:42686505G>A	ENST00000397163.3	+	8	1300	c.1081G>A	c.(1081-1083)Ggc>Agc	p.G361S	CAPN3_ENST00000356316.3_Missense_Mutation_p.G274S|CAPN3_ENST00000318023.7_Missense_Mutation_p.G361S|CAPN3_ENST00000357568.3_Missense_Mutation_p.G361S|CAPN3_ENST00000349748.3_Missense_Mutation_p.G313S|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	361	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAATCCGTGGGGCCAGGTGGA	0.597																																																0													78	70	73					15																	42686505		2192	4291	6483	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1081G>A	15.37:g.42686505G>A	ENSP00000380349:p.Gly361Ser		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	36	5.946163	0.97134	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.34	5.34	0.76211	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.95778	0.8626	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95922	0.8931	10	0.87932	D	0	.	19.2408	0.93881	0.0:0.0:1.0:0.0	.	226;274;313;361;361;274	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	S	274;361;361;313;361	ENSP00000348667:G274S;ENSP00000380349:G361S;ENSP00000350181:G361S;ENSP00000183936:G313S;ENSP00000326281:G361S	ENSP00000326281:G361S	G	+	1	0	CAPN3	40473797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.785000	0.95823	0.655000	0.94253	GGC		0.597	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			A	42686505	G	A	42686505	3	1	502	1	0	0	0	0	1	0	0	0	2630	1232	43	2	1163	2	CAPN3	15	42686505	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10		42686505	59844887	54	27121											
ZFP106	64397	hgsc.bcm.edu;ucsc.edu	37	15	42749284	42749284	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr15:42749284A>G	ENST00000263805.4	-	1	446	c.120T>C	c.(118-120)tcT>tcC	p.S40S	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	40					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCAACTGGCCAGAAATGTGCT	0.458																																																0													63	57	59					15																	42749284		2203	4299	6502	SO:0001819	synonymous_variant	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.120T>C	15.37:g.42749284A>G			B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.458	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		G	42749284	A	G	42749284	2	3	502	1	0	0	0	0	0	0	0	1	17642	175	7	3		3	ZFP106	15	42749284	Silent	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	62779	42749284	59782108	55	27122											
HERC1	8925	hgsc.bcm.edu;ucsc.edu	37	15	64005044	64005044	+	Missense_Mutation	SNP	T	T	C	rs567272238		TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr15:64005044T>C	ENST00000443617.2	-	24	4601	c.4514A>G	c.(4513-4515)tAt>tGt	p.Y1505C	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1505					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GATCAGTCTATAATTTGGGCT	0.408													T|||	1	0.000199681	0.0	0.0	5008	,	,		18569	0.0		0.001	False		,,,				2504	0.0															0													67	63	64					15																	64005044		1884	4101	5985	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4514A>G	15.37:g.64005044T>C	ENSP00000390158:p.Tyr1505Cys		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.039596	0.35989	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.31769	1.48	5.42	5.42	0.78866	.	0.000000	0.64402	U	0.000002	T	0.20618	0.0496	N	0.12182	0.205	0.52501	D	0.999952	B;B	0.16802	0.019;0.001	B;B	0.15052	0.012;0.002	T	0.03473	-1.1033	10	0.46703	T	0.11	.	15.7503	0.77980	0.0:0.0:0.0:1.0	.	489;1505	B4DKS2;Q15751	.;HERC1_HUMAN	C	1505;489	ENSP00000390158:Y1505C	ENSP00000389613:Y489C	Y	-	2	0	HERC1	61792097	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	4.593000	0.61034	2.180000	0.69256	0.459000	0.35465	TAT		0.408	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		C	64005044	T	C	64005044	3	2	502	1	0	0	0	0	1	0	0	0	7059	1406	49	3	10291	3	HERC1	15	64005044	Missense_Mutation	SNP	T	TCGA-CJ-4873-01A-01D-1373-10	21255760	64005044	38526348	56	27123											
ADAMTS7	11173	hgsc.bcm.edu	37	15	79090348	79090348	+	Silent	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr15:79090348G>A	ENST00000388820.4	-	3	774	c.564C>T	c.(562-564)gcC>gcT	p.A188A	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	188					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCCTCTCCGGGGCCTGACGCT	0.642																																																0													59	60	59					15																	79090348		2196	4293	6489	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.564C>T	15.37:g.79090348G>A			Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																				0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		A	79090348	G	A	79090348	2	1	502	1	0	0	0	0	0	0	0	1	271	1219	43	2		2	ADAMTS7	15	79090348	Silent	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	15085304	79090348	23441044	57	27124											
C16orf63	123811	hgsc.bcm.edu;ucsc.edu	37	16	15977977	15977977	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr16:15977977A>G	ENST00000255759.6	-	2	143	c.114T>C	c.(112-114)gaT>gaC	p.D38D	FOPNL_ENST00000573396.1_Silent_p.D38D|FOPNL_ENST00000573429.1_Silent_p.D38D|CTA-972D3.2_ENST00000573856.1_RNA|FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Silent_p.D38D|FOPNL_ENST00000573968.1_Silent_p.D38D	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	38	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						GTTCACGGTCATCATCTAGGG	0.358																																																0													85	90	88					16																	15977977		2197	4300	6497	SO:0001819	synonymous_variant	0			AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"pluripotent embryonic stem cell-related protein", "FOP-related protein of 20 kDa"		"chromosome 16 open reading frame 63"	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.114T>C	16.37:g.15977977A>G			B3KPU9	Silent	SNP	ENST00000255759.6	37	CCDS10567.1																																																																																				0.358	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252177.2	NM_144600		G	15977977	A	G	15977977	2	3	502	1	0	0	0	0	0	0	0	1	1828	214	8	3		3	C16orf63	16	15977977	Silent	SNP	A	TCGA-CJ-4873-01A-01D-1373-10		15977977	74376776	58	27125											
DPEP3	64180	hgsc.bcm.edu;ucsc.edu	37	16	68012420	68012420	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr16:68012420T>G	ENST00000268793.4	-	3	972	c.599A>C	c.(598-600)gAg>gCg	p.E200A	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	175					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGTCACAAGCTCGAGTTCAGA	0.572																																																0													170	154	159					16																	68012420		2198	4300	6498	SO:0001583	missense	64180			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.599A>C	16.37:g.68012420T>G	ENSP00000268793:p.Glu200Ala		B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	T	9.448	1.089777	0.20390	.	.	ENSG00000141096	ENST00000268793	T	0.21734	1.99	4.88	4.88	0.63580	.	0.053861	0.64402	D	0.000001	T	0.15219	0.0367	L	0.35644	1.08	0.41539	D	0.988505	B	0.22211	0.066	B	0.20577	0.03	T	0.09250	-1.0683	10	0.25106	T	0.35	-0.0814	8.0419	0.30526	0.1811:0.0:0.0:0.8189	.	175	Q9H4B8	DPEP3_HUMAN	A	200	ENSP00000268793:E200A	ENSP00000268793:E200A	E	-	2	0	DPEP3	66569921	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.150000	0.31639	1.841000	0.53522	0.459000	0.35465	GAG		0.572	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		G	68012420	T	G	68012420	3	3	502	1	0	0	0	0	1	0	0	0	4717	1551	54	5	974	5	DPEP3	16	68012420	Missense_Mutation	SNP	T	TCGA-CJ-4873-01A-01D-1373-10	52034443	68012420	22342333	59	27126											
ANKRD11	29123	hgsc.bcm.edu;ucsc.edu	37	16	89350352	89350352	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr16:89350352C>A	ENST00000301030.4	-	9	3058	c.2598G>T	c.(2596-2598)agG>agT	p.R866S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R866S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	866	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTTCATGTCCCTGTAGTCTG	0.562																																																0													67	72	70					16																	89350352		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2598G>T	16.37:g.89350352C>A	ENSP00000301030:p.Arg866Ser		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897328	0.52121	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.41065	1.01;1.01	5.51	2.5	0.30297	.	0.062472	0.64402	D	0.000006	T	0.50394	0.1613	M	0.65975	2.015	0.80722	D	1	D;D	0.60575	0.988;0.958	P;P	0.53861	0.736;0.681	T	0.48990	-0.8985	10	0.59425	D	0.04	.	9.6017	0.39607	0.0:0.7739:0.0:0.2261	.	485;866	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	S	866;866;485	ENSP00000301030:R866S;ENSP00000367581:R866S	ENSP00000301030:R866S	R	-	3	2	ANKRD11	87877853	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	1.663000	0.37429	0.288000	0.22398	0.561000	0.74099	AGG		0.562	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		A	89350352	C	A	89350352	3	1	502	1	0	0	0	0	1	0	0	0	639	622	22	4	5413	4	ANKRD11	16	89350352	Missense_Mutation	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	21337932	89350352	1004401	60	27127											
SERPINB13	5275	hgsc.bcm.edu	37	18	61264230	61264230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr18:61264230G>A	ENST00000344731.5	+	8	911	c.809G>A	c.(808-810)tGg>tAg	p.W270*	SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.W218*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	270					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTGGTAGAGTGGACTAGTCCA	0.408																																																0													80	85	83					18																	61264230		2203	4300	6503	SO:0001587	stop_gained	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.809G>A	18.37:g.61264230G>A	ENSP00000341584:p.Trp270*		A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Nonsense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444662	0.96187	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	.	.	.	5.43	4.53	0.55603	.	0.000000	0.46442	D	0.000281	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7012	0.69157	0.0:0.0:0.8549:0.1451	.	.	.	.	X	218;188;270	.	ENSP00000269489:W218X	W	+	2	0	SERPINB13	59415210	1.000000	0.71417	0.994000	0.49952	0.733000	0.41908	5.304000	0.65744	2.563000	0.86464	0.650000	0.86243	TGG		0.408	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		A	61264230	G	A	61264230	4	1	502	1	0	0	0	0	0	1	0	0	14106	1357	47	2	835	2	SERPINB13	18	61264230	Nonsense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10		61264230	16813018	61	27128											
DPP9	91039	hgsc.bcm.edu;ucsc.edu	37	19	4719879	4719879	+	5'UTR	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr19:4719879T>C	ENST00000598800.1	-	0	260				DPP9_ENST00000597849.1_Missense_Mutation_p.T14A|DPP9_ENST00000262960.9_Missense_Mutation_p.T14A			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9							cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CAACTTCCGGTGTTCTCCTTG	0.587																																																0													104	103	103					19																	4719879		692	1591	2283	SO:0001623	5_prime_UTR_variant	91039			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.-246A>G	19.37:g.4719879T>C			O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37		.	.	.	.	.	.	.	.	.	.	T	8.888	0.953381	0.18431	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.28895	1.59	3.29	1.09	0.20402	.	0.387601	0.20027	N	0.100792	T	0.10078	0.0247	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19745	-1.0296	10	0.25751	T	0.34	-2.2608	2.152	0.03802	0.231:0.2775:0.0:0.4915	.	14	Q1ZZB8	.	A	93;93;14	ENSP00000262960:T14A	ENSP00000262960:T14A	T	-	1	0	DPP9	4670879	0.548000	0.26473	0.012000	0.15200	0.894000	0.52154	-0.335000	0.07873	-0.025000	0.13918	0.459000	0.35465	ACC		0.587	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			C	4719879	T	C	4719879	1	2	502	0	1	0	0	0	0	0	0	0	4735	1696	59	3		3	DPP9	19	4719879	5'UTR	SNP	T	TCGA-CJ-4873-01A-01D-1373-10		4719879	54409104	62	27129											
PDE4A	5141	hgsc.bcm.edu;ucsc.edu	37	19	10565503	10565503	+	Splice_Site	SNP	A	A	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr19:10565503A>C	ENST00000352831.6	+	7	893		c.e7-1		PDE4A_ENST00000592685.1_Splice_Site|PDE4A_ENST00000440014.2_Splice_Site|PDE4A_ENST00000293683.5_Splice_Site|PDE4A_ENST00000380702.2_Splice_Site|PDE4A_ENST00000344979.3_Splice_Site	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CCTTTACCTTAGTTCAAAAGG	0.507																																																0													133	116	122					19																	10565503		2203	4300	6503	SO:0001630	splice_region_variant	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.784-1A>C	19.37:g.10565503A>C			O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Splice_Site	SNP	ENST00000352831.6	37	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996053	0.74703	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3315	0.49479	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE4A	10426503	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	8.173000	0.89680	1.854000	0.53819	0.454000	0.30748	.		0.507	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		Intron	C	10565503	A	C	10565503	5	2	502	1	0	0	0	0	0	0	1	0	11641	434	15	5	1265	5	PDE4A	19	10565503	Splice_Site	SNP	A	TCGA-CJ-4873-01A-01D-1373-10	5845624	10565503	48563480	63	27130											
KIAA0355	9710	hgsc.bcm.edu	37	19	34819026	34819026	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr19:34819026G>T	ENST00000299505.6	+	6	1947	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	358										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCTTTAATGAGTCGGCCGCCG	0.532																																																0													57	59	58					19																	34819026		2203	4300	6503	SO:0001583	missense	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1074G>T	19.37:g.34819026G>T	ENSP00000299505:p.Glu358Asp		Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301291	0.81136	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.55	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	N	0.14661	0.345	0.51482	D	0.999927	D	0.61697	0.99	D	0.73380	0.98	T	0.57573	-0.7788	9	0.87932	D	0	-11.7772	10.6379	0.45575	0.2109:0.0:0.7891:0.0	.	358	O15063	K0355_HUMAN	D	358;61	.	ENSP00000299505:E358D	E	+	3	2	KIAA0355	39510866	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.972000	0.49256	1.293000	0.44690	0.544000	0.68410	GAG		0.532	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		T	34819026	G	T	34819026	3	4	502	1	0	0	0	0	1	0	0	0	8172	1020	36	4	1092	4	KIAA0355	19	34819026	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	24253523	34819026	24309957	64	27131											
NCCRP1	342897	hgsc.bcm.edu;ucsc.edu	37	19	39688861	39688861	+	Silent	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr19:39688861C>T	ENST00000339852.4	+	3	442	c.420C>T	c.(418-420)taC>taT	p.Y140Y		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	140	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GTGGCTGGTACATTAGAACTG	0.582																																					Melanoma(107;1207 1556 14956 29427 52130)											0													115	119	118					19																	39688861		2203	4300	6503	SO:0001819	synonymous_variant	342897			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.420C>T	19.37:g.39688861C>T			Q6NVV5	Silent	SNP	ENST00000339852.4	37	CCDS12529.1																																																																																				0.582	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		T	39688861	C	T	39688861	2	4	502	1	0	0	0	0	0	0	0	1	10215	489	17	2		2	NCCRP1	19	39688861	Silent	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	4869835	39688861	19440122	65	27132											
ZSCAN5B	342933	hgsc.bcm.edu;ucsc.edu	37	19	56701571	56701571	+	Missense_Mutation	SNP	G	G	T	rs189564920		TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr19:56701571G>T	ENST00000586855.2	-	5	1426	c.1113C>A	c.(1111-1113)agC>agA	p.S371R	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.S371R			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	371					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCTGTGGATGCTTAGCTGGG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19889	0.001		0.0	False		,,,				2504	0.0															0													75	78	77					19																	56701571		2179	4281	6460	SO:0001583	missense	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1113C>A	19.37:g.56701571G>T	ENSP00000466072:p.Ser371Arg			Missense_Mutation	SNP	ENST00000586855.2	37	CCDS46203.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.250	-1.007128	0.02112	.	.	ENSG00000197213	ENST00000358992	T	0.07216	3.21	2.61	0.227	0.15359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	N	0.02412	-0.56	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43147	-0.9409	9	0.39692	T	0.17	.	10.061	0.42275	0.0:0.3945:0.6055:0.0	.	371	A6NJL1	ZSA5B_HUMAN	R	371	ENSP00000351883:S371R	ENSP00000351883:S371R	S	-	3	2	ZSCAN5B	61393383	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.620000	0.05565	0.149000	0.19098	-0.840000	0.03056	AGC		0.547	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		T	56701571	G	T	56701571	3	4	502	1	0	0	0	0	1	0	0	0	18244	1310	46	4	378	4	ZSCAN5B	19	56701571	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	17012710	56701571	2427412	66	27133											
SSTR4	6754	hgsc.bcm.edu	37	20	23016318	23016318	+	Silent	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr20:23016318C>A	ENST00000255008.3	+	1	262	c.198C>A	c.(196-198)gcC>gcA	p.A66A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	66					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGGCAACGCCCTGGTCATCT	0.657																																					Esophageal Squamous(15;850 1104 16640)											0													102	113	109					20																	23016318		2203	4300	6503	SO:0001819	synonymous_variant	6754				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.198C>A	20.37:g.23016318C>A			Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	CCDS42856.1																																																																																				0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			A	23016318	C	A	23016318	2	1	502	1	0	0	0	0	0	0	0	1	15205	610	22	4		4	SSTR4	20	23016318	Silent	SNP	C	TCGA-CJ-4873-01A-01D-1373-10		23016318	40009202	67	27134											
C20orf132	140699	hgsc.bcm.edu	37	20	35776241	35776241	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr20:35776241T>G	ENST00000400441.3	-	10	1145	c.1146A>C	c.(1144-1146)gaA>gaC	p.E382D	MROH8_ENST00000217333.8_Missense_Mutation_p.E262D|MROH8_ENST00000441008.2_Missense_Mutation_p.E368D			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	267																	CAGCCACCTTTTCCTGTGGGT	0.527																																																0													50	54	53					20																	35776241		1996	4151	6147	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1146A>C	20.37:g.35776241T>G	ENSP00000383291:p.Glu382Asp		Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	7.191|7.191|7.191	0.591537|0.591537|0.591537	0.13812|0.13812|0.13812	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458;ENST00000421643|ENST00000343811;ENST00000400440	T;T;T|.|.	0.05447|.|.	3.44;3.44;3.44|.|.	5.68|5.68|5.68	-1.09|-1.09|-1.09	0.09904|0.09904|0.09904	.|.|.	0.756926|.|.	0.12940|.|.	N|.|.	0.426694|.|.	T|T|T	0.33206|0.33206|0.33206	0.0855|0.0855|0.0855	L|L|L	0.43923|0.43923|0.43923	1.385|1.385|1.385	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;B;B;B|.|.	0.33171|.|.	0.278;0.4;0.4;0.206|.|.	B;B;B;B|.|.	0.30855|.|.	0.057;0.121;0.121;0.085|.|.	T|T|T	0.31724|0.31724|0.31724	-0.9933|-0.9933|-0.9933	10|5|5	0.13108|.|.	T|.|.	0.6|.|.	-0.1161|-0.1161|-0.1161	4.8699|4.8699|4.8699	0.13627|0.13627|0.13627	0.1789:0.486:0.0:0.3351|0.1789:0.486:0.0:0.3351|0.1789:0.486:0.0:0.3351	.|.|.	382;267;392;267|.|.	E7ETR9;Q9H579;Q6PF12;Q9H579-2|.|.	.;CT132_HUMAN;.;.|.|.	D|Q|T	368;382;262|61;384|409;413	ENSP00000392144:E368D;ENSP00000383291:E382D;ENSP00000217333:E262D|.|.	ENSP00000217333:E262D|.|.	E|K|K	-|-|-	3|1|2	2|0|0	C20orf132|C20orf132|C20orf132	35209655|35209655|35209655	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.147000|0.147000|0.147000	0.22382|0.22382|0.22382	0.047000|0.047000|0.047000	0.14425|0.14425|0.14425	-0.165000|-0.165000|-0.165000	0.09968|0.09968|0.09968	-0.132000|-0.132000|-0.132000	0.11557|0.11557|0.11557	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	GAA|AAA|AAA		0.527	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		G	35776241	T	G	35776241	3	3	502	1	0	0	0	0	1	0	0	0	2088	1838	64	5	2054	5	C20orf132	20	35776241	Missense_Mutation	SNP	T	TCGA-CJ-4873-01A-01D-1373-10	12759923	35776241	27249279	68	27135											
TOP1	7150	hgsc.bcm.edu;ucsc.edu	37	20	39728844	39728844	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr20:39728844G>T	ENST00000361337.2	+	12	1374	c.1124G>T	c.(1123-1125)aGa>aTa	p.R375I	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	375					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	ATGCTGAAGAGACGAATCATG	0.493			T	NUP98	AML*																																		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													59	60	59					20																	39728844		2203	4300	6503	SO:0001583	missense	7150				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1124G>T	20.37:g.39728844G>T	ENSP00000354522:p.Arg375Ile		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276982	0.80580	.	.	ENSG00000198900	ENST00000361337	T	0.48522	0.81	5.27	5.27	0.74061	DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.043720	0.85682	D	0.000000	T	0.68384	0.2995	M	0.91406	3.205	0.80722	D	1	D	0.55800	0.973	P	0.55087	0.768	T	0.75975	-0.3128	10	0.87932	D	0	-15.7862	12.5957	0.56468	0.0764:0.0:0.9236:0.0	.	375	P11387	TOP1_HUMAN	I	375	ENSP00000354522:R375I	ENSP00000354522:R375I	R	+	2	0	TOP1	39162258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.834000	0.75339	2.641000	0.89580	0.655000	0.94253	AGA		0.493	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			T	39728844	G	T	39728844	3	4	502	1	0	0	0	0	1	0	0	0	16368	942	33	4	1170	4	TOP1	20	39728844	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	3952603	39728844	23296676	69	27136											
UBE2V1	7335	hgsc.bcm.edu	37	20	48732051	48732051	+	5'Flank	SNP	C	C	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr20:48732051C>G	ENST00000371674.3	-	0	0				TMEM189_ENST00000557021.1_Intron|TMEM189-UBE2V1_ENST00000341698.2_Intron|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R21T|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R21T|UBE2V1_ENST00000420027.2_Missense_Mutation_p.D4H|UBE2V1_ENST00000415862.2_Missense_Mutation_p.D4H|UBE2V1_ENST00000396059.3_5'Flank|UBE2V1_ENST00000371657.5_5'Flank	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1						cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			aggttcaagtcttccttcatc	0.458																																																0													181	145	157					20																	48732051		2203	4300	6503	SO:0001631	upstream_gene_variant	7335			U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"Ubiquitin-conjugating enzymes E2"	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626		20.37:g.48732051C>G	Exception_encountered		E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	CCDS33483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.580|3.580	-0.085890|-0.085890	0.07097|0.07097	.|.	.|.	ENSG00000244687|ENSG00000244687	ENST00000415862;ENST00000420027|ENST00000340309;ENST00000371677	T;T|T;T	0.54479|0.61980	0.57;0.57|0.06;0.06	3.6|3.6	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.41558|0.41558	0.1164|0.1164	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	D|B	0.64830|0.02656	0.994|0.0	D|B	0.79108|0.01281	0.992|0.0	T|T	0.20240|0.20240	-1.0281|-1.0281	8|8	0.87932|0.23302	D|T	0|0.38	.|.	7.3081|7.3081	0.26459|0.26459	0.0:0.3915:0.5021:0.1064|0.0:0.3915:0.5021:0.1064	.|.	4|21	Q13404-6|Q13404-7	.|.	H|T	4|21	ENSP00000407770:D4H;ENSP00000395264:D4H|ENSP00000340305:R21T;ENSP00000360742:R21T	ENSP00000407770:D4H|ENSP00000340305:R21T	D|R	-|-	1|2	0|0	UBE2V1|UBE2V1	48165458|48165458	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.220000|0.220000	0.24768|0.24768	-0.159000|-0.159000	0.10056|0.10056	-0.334000|-0.334000	0.08463|0.08463	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.458	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		G	48732051	C	G	48732051	1	3	502	0	1	0	0	0	0	0	0	0	16880	913	32	4		4	UBE2V1	20	48732051	5'Flank	SNP	C	TCGA-CJ-4873-01A-01D-1373-10	9003207	48732051	14293469	70	27137											
PCNT	5116	hgsc.bcm.edu	37	21	47832830	47832830	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr21:47832830T>A	ENST00000359568.5	+	29	6181	c.6074T>A	c.(6073-6075)gTc>gAc	p.V2025D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2025					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGCTCACCGTCTGCCAGAGG	0.592																																																0													91	88	89					21																	47832830		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6074T>A	21.37:g.47832830T>A	ENSP00000352572:p.Val2025Asp		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.801920	0.50315	.	.	ENSG00000160299	ENST00000359568	T	0.01918	4.56	5.37	1.66	0.24008	.	1.750500	0.04184	N	0.326988	T	0.03651	0.0104	L	0.29908	0.895	0.09310	N	1	P;P	0.45176	0.852;0.769	P;B	0.46975	0.533;0.332	T	0.43766	-0.9371	10	0.54805	T	0.06	.	6.6069	0.22729	0.0:0.3309:0.0:0.6691	.	1907;2025	O95613-2;O95613	.;PCNT_HUMAN	D	2025	ENSP00000352572:V2025D	ENSP00000352572:V2025D	V	+	2	0	PCNT	46657258	0.012000	0.17670	0.005000	0.12908	0.030000	0.12068	0.064000	0.14437	0.059000	0.16252	0.421000	0.28195	GTC		0.592	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		A	47832830	T	A	47832830	3	1	502	1	0	0	0	0	1	0	0	0	11592	1667	58	5	6188	5	PCNT	21	47832830	Missense_Mutation	SNP	T	TCGA-CJ-4873-01A-01D-1373-10		47832830	297065	71	27138											
GJB1	2705	hgsc.bcm.edu	37	X	70444041	70444041	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chrX:70444041A>T	ENST00000374022.3	+	2	579	c.484A>T	c.(484-486)Atg>Ttg	p.M162L	GJB1_ENST00000374029.1_Missense_Mutation_p.M162L|GJB1_ENST00000361726.6_Missense_Mutation_p.M162L	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	162					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TGGCTATGCCATGGTGCGGCT	0.562																																																0													164	131	142					X																	70444041		2203	4299	6502	SO:0001583	missense	2705			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"Ion channels / Gap junction proteins (connexins)"	4283	protein-coding gene	gene with protein product	"Charcot-Marie-Tooth neuropathy, X-linked", "connexin 32"	304040	"gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32)"	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.484A>T	X.37:g.70444041A>T	ENSP00000363134:p.Met162Leu		B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP	ENST00000374022.3	37	CCDS14408.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257163	0.22965	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000361726	D;D;D	0.94758	-3.51;-3.51;-3.51	4.81	4.81	0.61882	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.90369	0.6986	L	0.28344	0.845	0.80722	D	1	B	0.26120	0.142	B	0.39258	0.295	D	0.84200	0.0450	10	0.05351	T	0.99	.	13.6246	0.62157	1.0:0.0:0.0:0.0	.	162	P08034	CXB1_HUMAN	L	162	ENSP00000363141:M162L;ENSP00000363134:M162L;ENSP00000354900:M162L	ENSP00000354900:M162L	M	+	1	0	GJB1	70360766	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.136000	0.94489	1.790000	0.52503	0.480000	0.44947	ATG		0.562	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057133.1	NM_000166		T	70444041	A	T	70444041	3	4	502	1	0	0	0	0	1	0	0	0	6409	217	8	5	486	5	GJB1	23	70444041	Missense_Mutation	SNP	A	TCGA-CJ-4873-01A-01D-1373-10		70444041	84826519	72	27139											
ZDHHC9	51114	hgsc.bcm.edu	37	X	128948750	128948750	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chrX:128948750G>A	ENST00000357166.6	-	6	900	c.509C>T	c.(508-510)cCc>cTc	p.P170L	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.P170L	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	170					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CCCCACCCAGGGGCAGTGATG	0.483																																																0													114	94	101					X																	128948750		2203	4300	6503	SO:0001583	missense	51114			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"Zinc fingers, DHHC-type"	18475	protein-coding gene	gene with protein product		300646	"zinc finger, DHHC-type containing 10", "chromosome X open reading frame 11"	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.509C>T	X.37:g.128948750G>A	ENSP00000349689:p.Pro170Leu		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248791	0.95305	.	.	ENSG00000188706	ENST00000357166;ENST00000371064;ENST00000406492	T;T;T	0.27104	1.69;1.69;1.69	5.92	5.92	0.95590	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76735	-0.2850	10	0.72032	D	0.01	-13.7867	18.8204	0.92094	0.0:0.0:1.0:0.0	.	170	Q9Y397	ZDHC9_HUMAN	L	170	ENSP00000349689:P170L;ENSP00000360103:P170L;ENSP00000383991:P170L	ENSP00000349689:P170L	P	-	2	0	ZDHHC9	128776431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.490000	0.84030	0.594000	0.82650	CCC		0.483	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		A	128948750	G	A	128948750	3	1	502	1	0	0	0	0	1	0	0	0	17627	1232	43	2	609	2	ZDHHC9	23	128948750	Missense_Mutation	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	58504709	128948750	26321810	73	27140											
USP26	83844	hgsc.bcm.edu;ucsc.edu	37	X	132161106	132161106	+	Silent	SNP	G	G	A	rs139383150		TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chrX:132161106G>A	ENST00000511190.1	-	6	1612	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	USP26_ENST00000406273.1_Silent_p.N381N|USP26_ENST00000370832.1_Silent_p.N381N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	381	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CATGAGCATCGTTCTGTGCAT	0.353																																					NSCLC(104;342 1621 36940 47097 52632)											0										2,3833		0,2,1630,571	81	79	80		1143	-0.3	1	X	dbSNP_134	80	0,6726		0,0,2427,1872	no	coding-synonymous	USP26	NM_031907.1		0,2,4057,2443	AA,AG,GG,G		0.0,0.0522,0.0189		381/914	132161106	2,10559	2203	4299	6502	SO:0001819	synonymous_variant	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1143C>T	X.37:g.132161106G>A			B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	CCDS14635.1																																																																																				0.353	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		A	132161106	G	A	132161106	2	1	502	1	0	0	0	0	0	0	0	1	17062	1136	40	1		1	USP26	23	132161106	Silent	SNP	G	TCGA-CJ-4873-01A-01D-1373-10	3212356	132161106	23109454	74	27141											
HP1BP3	50809	hgsc.bcm.edu	37	1	21100040	21100040	+	Silent	SNP	G	G	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr1:21100040G>T	ENST00000312239.5	-	5	553	c.414C>A	c.(412-414)acC>acA	p.T138T	HP1BP3_ENST00000487117.1_5'Flank|HP1BP3_ENST00000375003.2_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	138					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGGCAGAAAGGGTAGCCCAGG	0.423																																																0													107	106	107					1																	21100040		2203	4300	6503	SO:0001819	synonymous_variant	50809			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.414C>A	1.37:g.21100040G>T			A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Silent	SNP	ENST00000312239.5	37	CCDS30621.1																																																																																				0.423	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		T	21100040	G	T	21100040	2	4	503	1	0	0	0	0	0	0	0	1	7330	1219	43	4		4	HP1BP3	1	21100040	Silent	SNP	G	TCGA-CJ-4874-01A-01D-1373-10		21100040	228150581	1	27142											
FCRL5	83416	hgsc.bcm.edu	37	1	157494179	157494179	+	Missense_Mutation	SNP	C	C	T	rs571247527		TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr1:157494179C>T	ENST00000361835.3	-	10	2286	c.2129G>A	c.(2128-2130)gGg>gAg	p.G710E	FCRL5_ENST00000368191.3_Missense_Mutation_p.G625E|FCRL5_ENST00000368190.3_Missense_Mutation_p.G710E|FCRL5_ENST00000356953.4_Missense_Mutation_p.G710E|FCRL5_ENST00000461387.1_5'Flank	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	710	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAAGGAGGCCCCTCCTCCAGA	0.547													c|||	1	0.000199681	0.0	0.0	5008	,	,		21019	0.001		0.0	False		,,,				2504	0.0															0													71	77	75					1																	157494179		2203	4300	6503	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2129G>A	1.37:g.157494179C>T	ENSP00000354691:p.Gly710Glu		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	9.694	1.152776	0.21371	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.02812	4.15;4.15;4.15;4.15	4.69	-0.939	0.10408	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04634	0.0126	M	0.86740	2.835	0.20703	N	0.999868	D;D;P;D	0.89917	1.0;0.998;0.933;0.975	D;D;D;D	0.81914	0.995;0.972;0.928;0.954	T	0.31475	-0.9942	9	0.20519	T	0.43	.	4.2303	0.10599	0.0:0.3836:0.3271:0.2893	.	625;710;710;710	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	E	710;710;710;625	ENSP00000354691:G710E;ENSP00000349434:G710E;ENSP00000357173:G710E;ENSP00000357174:G625E	ENSP00000349434:G710E	G	-	2	0	FCRL5	155760803	0.000000	0.05858	0.035000	0.18076	0.018000	0.09664	0.219000	0.17641	0.027000	0.15297	-0.266000	0.10368	GGG		0.547	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		T	157494179	C	T	157494179	3	4	503	1	0	0	0	0	1	0	0	0	5800	623	22	2	836	2	FCRL5	1	157494179	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	136394139	157494179	91756442	2	27143											
TMEM63A	9725	hgsc.bcm.edu	37	1	226037701	226037701	+	Silent	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr1:226037701C>T	ENST00000366835.3	-	21	2253	c.1983G>A	c.(1981-1983)aaG>aaA	p.K661K		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	661					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGTGGATCCCCTTCTCCAGCT	0.597																																																0													125	112	117					1																	226037701		2203	4300	6503	SO:0001819	synonymous_variant	9725				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1983G>A	1.37:g.226037701C>T			Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	CCDS31042.1																																																																																				0.597	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		T	226037701	C	T	226037701	2	4	503	1	0	0	0	0	0	0	0	1	16195	680	24	2		2	TMEM63A	1	226037701	Silent	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	68543522	226037701	23212920	3	27144											
C2orf16	84226	hgsc.bcm.edu;ucsc.edu	37	2	27799674	27799674	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr2:27799674T>G	ENST00000408964.2	+	1	286	c.235T>G	c.(235-237)Tta>Gta	p.L79V		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	79						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACATGTGAAATTATCTTCAGT	0.393																																																0													85	79	81					2																	27799674		1880	4114	5994	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.235T>G	2.37:g.27799674T>G	ENSP00000386190:p.Leu79Val		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.242524	0.39598	.	.	ENSG00000221843	ENST00000408964	T	0.07567	3.18	3.39	2.23	0.28157	.	.	.	.	.	T	0.09862	0.0242	L	0.27053	0.805	0.09310	N	1	D	0.60160	0.987	P	0.54026	0.74	T	0.23261	-1.0193	9	0.46703	T	0.11	.	5.2404	0.15469	0.0:0.1345:0.0:0.8655	.	79	Q68DN1	CB016_HUMAN	V	79	ENSP00000386190:L79V	ENSP00000386190:L79V	L	+	1	2	C2orf16	27653178	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	1.261000	0.32980	0.677000	0.31305	0.460000	0.39030	TTA		0.393	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		G	27799674	T	G	27799674	3	3	503	1	0	0	0	0	1	0	0	0	2159	1490	52	5	237	5	C2orf16	2	27799674	Missense_Mutation	SNP	T	TCGA-CJ-4874-01A-01D-1373-10		27799674	215399699	4	27145											
VIT	5212	hgsc.bcm.edu	37	2	37035867	37035867	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr2:37035867C>T	ENST00000389975.3	+	14	1899	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	VIT_ENST00000404084.1_Missense_Mutation_p.R485C|VIT_ENST00000401530.1_Missense_Mutation_p.R512C|VIT_ENST00000497382.1_Missense_Mutation_p.R202C|VIT_ENST00000379241.3_Missense_Mutation_p.R511C|VIT_ENST00000379242.3_Missense_Mutation_p.R548C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	533	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.R548S(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CACGGACACGCGCATCGGGGC	0.587																																																1	Substitution - Missense(1)	lung(1)											81	78	79					2																	37035867		2203	4300	6503	SO:0001583	missense	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1597C>T	2.37:g.37035867C>T	ENSP00000374625:p.Arg533Cys		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.897948	0.52227	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.27	4.39	0.52855	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	H	0.96916	3.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.94779	0.7952	10	0.87932	D	0	-15.256	8.8491	0.35188	0.1481:0.7767:0.0:0.0752	.	512;511;533;548	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	C	548;533;202;485;511;512	ENSP00000368544:R548C;ENSP00000374625:R533C;ENSP00000417874:R202C;ENSP00000384154:R485C;ENSP00000368543:R511C;ENSP00000385658:R512C	ENSP00000368543:R511C	R	+	1	0	VIT	36889371	0.998000	0.40836	0.060000	0.19600	0.449000	0.32228	3.857000	0.55972	1.225000	0.43566	0.557000	0.71058	CGC		0.587	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				T	37035867	C	T	37035867	3	4	503	1	0	0	0	0	1	0	0	0	17176	768	27	1	1821	1	VIT	2	37035867	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	9236193	37035867	206163506	5	27146											
SMEK2	57223	hgsc.bcm.edu	37	2	55804449	55804449	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr2:55804449A>T	ENST00000345102.5	-	11	1908		c.e11+1		SMEK2_ENST00000272313.5_Splice_Site|SMEK2_ENST00000407823.3_Splice_Site	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)						positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATTCATACTTACCGGGACAAA	0.244																																																0													40	41	41					2																	55804449		2190	4270	6460	SO:0001630	splice_region_variant	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1606+1T>A	2.37:g.55804449A>T			Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Splice_Site	SNP	ENST00000345102.5	37	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.496242	0.44352	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.845	0.70254	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMEK2	55657953	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	6.359000	0.73060	2.096000	0.63516	0.533000	0.62120	.		0.244	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463	Intron	T	55804449	A	T	55804449	5	4	503	1	0	0	0	0	0	0	1	0	14800	405	14	5	969	5	SMEK2	2	55804449	Splice_Site	SNP	A	TCGA-CJ-4874-01A-01D-1373-10	18768582	55804449	187394924	6	27147											
SCN1A	6323	hgsc.bcm.edu;ucsc.edu	37	2	166847875	166847875	+	Silent	SNP	T	T	C			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr2:166847875T>C	ENST00000303395.4	-	26	5909	c.5910A>G	c.(5908-5910)acA>acG	p.T1970T	SCN1A_ENST00000375405.3_Silent_p.T1959T|SCN1A_ENST00000423058.2_Silent_p.T1970T|SCN1A_ENST00000409050.1_Silent_p.T1942T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1970					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGTTTTTTCTGTAATAGAGT	0.373																																																0													90	85	87					2																	166847875		2203	4300	6503	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5910A>G	2.37:g.166847875T>C			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																				0.373	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		C	166847875	T	C	166847875	2	2	503	1	0	0	0	0	0	0	0	1	13920	1567	55	3		3	SCN1A	2	166847875	Silent	SNP	T	TCGA-CJ-4874-01A-01D-1373-10	111043426	166847875	76351498	7	27148											
TMEM169	92691	hgsc.bcm.edu;ucsc.edu	37	2	216965089	216965089	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr2:216965089G>A	ENST00000295658.4	+	3	925	c.718G>A	c.(718-720)Gca>Aca	p.A240T	TMEM169_ENST00000454545.1_Missense_Mutation_p.A240T|TMEM169_ENST00000437356.2_Missense_Mutation_p.A240T|TMEM169_ENST00000406027.2_Missense_Mutation_p.A240T	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	240						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCTGGGAAGCATGGTGGCA	0.582																																																0													181	150	160					2																	216965089		2203	4300	6503	SO:0001583	missense	92691			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.718G>A	2.37:g.216965089G>A	ENSP00000295658:p.Ala240Thr		B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773896	0.49786	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	4.03	0.46877	.	0.102556	0.64402	D	0.000003	T	0.42787	0.1218	L	0.50333	1.59	0.31744	N	0.63542	B	0.20052	0.041	B	0.14578	0.011	T	0.42832	-0.9428	8	.	.	.	-15.7215	9.5136	0.39091	0.0785:0.0:0.7804:0.1411	.	240	Q96HH4	TM169_HUMAN	T	240	.	.	A	+	1	0	TMEM169	216673334	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	4.526000	0.60566	2.550000	0.86006	0.655000	0.94253	GCA		0.582	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		A	216965089	G	A	216965089	3	1	503	1	0	0	0	0	1	0	0	0	16089	971	34	2	724	2	TMEM169	2	216965089	Missense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10	50117214	216965089	26234284	8	27149											
DNAJB8	165721	hgsc.bcm.edu	37	3	128181552	128181552	+	Silent	SNP	G	G	A			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr3:128181552G>A	ENST00000469083.1	-	2	3094	c.537C>T	c.(535-537)ttC>ttT	p.F179F	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Silent_p.F179F			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	179	Ser-rich.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCACCGACTTGAACCCCGAGC	0.617																																																0													85	82	83					3																	128181552		2203	4300	6503	SO:0001819	synonymous_variant	165721				CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.537C>T	3.37:g.128181552G>A			B3KWV7	Silent	SNP	ENST00000469083.1	37	CCDS3048.1																																																																																				0.617	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		A	128181552	G	A	128181552	2	1	503	1	0	0	0	0	0	0	0	1	4628	1281	45	2		2	DNAJB8	3	128181552	Silent	SNP	G	TCGA-CJ-4874-01A-01D-1373-10		128181552	69840878	9	27150											
ZBTB38	253461	hgsc.bcm.edu	37	3	141162128	141162128	+	Missense_Mutation	SNP	C	C	G	rs62282002	byFrequency	TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr3:141162128C>G	ENST00000514251.1	+	4	1177	c.898C>G	c.(898-900)Cca>Gca	p.P300A	ZBTB38_ENST00000321464.5_Missense_Mutation_p.P301A|ZBTB38_ENST00000441582.2_Missense_Mutation_p.P300A					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAGTCCACAACCAGCTGCTGT	0.443													C|||	557	0.111222	0.0053	0.2046	5008	,	,		21560	0.2192		0.0915	False		,,,				2504	0.0971															0								C	ALA/PRO	74,3726		1,72,1827	87	84	85		898	5.3	1	3	dbSNP_129	85	730,7500		23,684,3408	yes	missense	ZBTB38	NM_001080412.2	27	24,756,5235	GG,GC,CC		8.87,1.9474,6.6833	possibly-damaging	300/1196	141162128	804,11226	1900	4115	6015	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.898C>G	3.37:g.141162128C>G	ENSP00000426387:p.Pro300Ala			Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	282	0.12912087912087913	6	0.012195121951219513	64	0.17679558011049723	146	0.25524475524475526	66	0.0870712401055409	C	1.183	-0.637454	0.03557	0.019474	0.0887	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.08720	3.39;3.06;3.06;3.06	5.28	5.28	0.74379	.	0.624337	0.16082	N	0.230452	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.24483	0.104	B	0.25140	0.058	T	0.47522	-0.9111	8	.	.	.	-11.0258	7.1963	0.25855	0.0:0.7913:0.0:0.2087	rs62282002	300	Q8NAP3	ZBT38_HUMAN	A	300;300;300;301	ENSP00000424254:P300A;ENSP00000426387:P300A;ENSP00000406955:P300A;ENSP00000372635:P301A	.	P	+	1	0	ZBTB38	142644818	0.570000	0.26651	0.959000	0.39883	0.750000	0.42670	1.548000	0.36201	2.611000	0.88343	0.591000	0.81541	CCA		0.443	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			G	141162128	C	G	141162128	3	3	503	1	0	0	0	0	1	0	0	0	17544	507	18	4	900	4	ZBTB38	3	141162128	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	12980576	141162128	56860302	10	27151											
ALG3	10195	hgsc.bcm.edu	37	3	183963025	183963025	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr3:183963025A>T	ENST00000397676.3	-	4	596	c.566T>A	c.(565-567)cTg>cAg	p.L189Q	ALG3_ENST00000445626.2_Missense_Mutation_p.L141Q|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000418734.2_Missense_Mutation_p.L133Q|ALG3_ENST00000455059.1_Missense_Mutation_p.L149Q|EIF2B5_ENST00000444495.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	189					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGGCCAGCAGGAGGTTGAT	0.542																																																0													34	38	36					3																	183963025		1978	4149	6127	SO:0001583	missense	10195			BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.566T>A	3.37:g.183963025A>T	ENSP00000380793:p.Leu189Gln		A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.237661	0.79800	.	.	ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	4.93	4.93	0.64822	.	0.226724	0.37219	U	0.002192	D	0.92286	0.7553	M	0.79614	2.46	0.36236	D	0.852963	D;P;P;P;P	0.63880	0.993;0.937;0.937;0.797;0.888	D;P;P;P;P	0.63381	0.914;0.739;0.837;0.853;0.724	D	0.95288	0.8392	10	0.87932	D	0	-0.7228	13.766	0.62995	1.0:0.0:0.0:0.0	.	81;141;133;149;189	B4DMZ7;A8JZZ6;B4DS50;C9J7S5;Q92685	.;.;.;.;ALG3_HUMAN	Q	133;189;141;149	ENSP00000402976:L133Q;ENSP00000380793:L189Q;ENSP00000402744:L141Q;ENSP00000397613:L149Q	ENSP00000380793:L189Q	L	-	2	0	ALG3	185445719	1.000000	0.71417	0.270000	0.24601	0.937000	0.57800	9.310000	0.96267	1.839000	0.53478	0.379000	0.24179	CTG		0.542	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		T	183963025	A	T	183963025	3	4	503	1	0	0	0	0	1	0	0	0	520	188	7	5	774	5	ALG3	3	183963025	Missense_Mutation	SNP	A	TCGA-CJ-4874-01A-01D-1373-10	42800897	183963025	14059405	11	27152											
CYP2U1	113612	hgsc.bcm.edu	37	4	108868571	108868571	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr4:108868571A>G	ENST00000332884.6	+	3	1441	c.1166A>G	c.(1165-1167)aAc>aGc	p.N389S	CYP2U1_ENST00000508453.1_Missense_Mutation_p.N180S|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	389					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATTGGCGCCAACCGAGCTCCT	0.493																																																0													100	93	95					4																	108868571		2203	4300	6503	SO:0001583	missense	113612			BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1166A>G	4.37:g.108868571A>G	ENSP00000333212:p.Asn389Ser		B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	A	6.211	0.407007	0.11754	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.79033	-1.23;-1.23	6.08	3.62	0.41486	.	0.500599	0.23461	N	0.047938	T	0.53012	0.1770	N	0.05330	-0.07	0.20975	N	0.999818	B	0.15473	0.013	B	0.19666	0.026	T	0.36792	-0.9733	10	0.06365	T	0.9	.	8.8159	0.34996	0.806:0.1286:0.0653:0.0	.	389	Q7Z449	CP2U1_HUMAN	S	389;346;180	ENSP00000333212:N389S;ENSP00000423667:N180S	ENSP00000333212:N389S	N	+	2	0	CYP2U1	109088020	0.918000	0.31147	0.156000	0.22583	0.889000	0.51656	1.719000	0.38011	0.525000	0.28522	0.482000	0.46254	AAC		0.493	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		G	108868571	A	G	108868571	3	3	503	1	0	0	0	0	1	0	0	0	4177	43	2	3	1176	3	CYP2U1	4	108868571	Missense_Mutation	SNP	A	TCGA-CJ-4874-01A-01D-1373-10		108868571	82285705	12	27153											
NDFIP1	80762	hgsc.bcm.edu;ucsc.edu	37	5	141520137	141520137	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr5:141520137T>G	ENST00000253814.4	+	6	975	c.505T>G	c.(505-507)Tat>Gat	p.Y169D		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	169					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTCCACCTATTTCCCTGG	0.338																																																0													240	229	233					5																	141520137		2203	4300	6503	SO:0001583	missense	80762			BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.505T>G	5.37:g.141520137T>G	ENSP00000253814:p.Tyr169Asp		B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Missense_Mutation	SNP	ENST00000253814.4	37	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.274118	0.40194	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	L	0.35414	1.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63625	-0.6595	9	0.30854	T	0.27	-13.1119	15.5661	0.76294	0.0:0.0:0.0:1.0	.	169	Q9BT67	NFIP1_HUMAN	D	169	.	ENSP00000253814:Y169D	Y	+	1	0	NDFIP1	141500321	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.691000	0.84191	2.095000	0.63458	0.459000	0.35465	TAT		0.338	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571		G	141520137	T	G	141520137	3	3	503	1	0	0	0	0	1	0	0	0	10247	1522	53	5	527	5	NDFIP1	5	141520137	Missense_Mutation	SNP	T	TCGA-CJ-4874-01A-01D-1373-10		141520137	39395123	13	27154											
RMND5B	64777	hgsc.bcm.edu	37	5	177574747	177574747	+	Silent	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr5:177574747C>T	ENST00000515098.1	+	11	1332	c.981C>T	c.(979-981)ggC>ggT	p.G327G	RMND5B_ENST00000313386.4_Silent_p.G327G|RMND5B_ENST00000542098.1_Silent_p.G314G			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	327										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGAACTAGGCATGAAGTGCT	0.562																																																0													156	140	146					5																	177574747		2203	4300	6503	SO:0001819	synonymous_variant	64777			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.981C>T	5.37:g.177574747C>T			Q1HE27|Q6UVY7|Q9H6F6	Silent	SNP	ENST00000515098.1	37	CCDS4431.1																																																																																				0.562	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		T	177574747	C	T	177574747	2	4	503	1	0	0	0	0	0	0	0	1	13404	697	25	2		2	RMND5B	5	177574747	Silent	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	36054610	177574747	3340513	14	27155											
PGC	5225	hgsc.bcm.edu;ucsc.edu	37	6	41711090	41711090	+	Silent	SNP	G	G	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr6:41711090G>T	ENST00000373025.3	-	4	428	c.366C>A	c.(364-366)acC>acA	p.T122T	PGC_ENST00000425343.2_Silent_p.T122T	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	122					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TGGTGGAGTAGGTGGACGACT	0.637																																																0													164	153	157					6																	41711090		2203	4300	6503	SO:0001819	synonymous_variant	5225				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.366C>A	6.37:g.41711090G>T			B4DVZ3|Q5T3D7|Q5T3D8	Silent	SNP	ENST00000373025.3	37	CCDS4859.1																																																																																				0.637	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			T	41711090	G	T	41711090	2	4	503	1	0	0	0	0	0	0	0	1	11787	987	35	4		4	PGC	6	41711090	Silent	SNP	G	TCGA-CJ-4874-01A-01D-1373-10		41711090	129403977	15	27156											
GPR115	221393	hgsc.bcm.edu;ucsc.edu	37	6	47684543	47684543	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr6:47684543G>A	ENST00000283303.2	+	7	2192	c.1934G>A	c.(1933-1935)gGt>gAt	p.G645D	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Splice_Site_p.G645D|GPR115_ENST00000371220.1_Splice_Site_p.G702D	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	645					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTGCCACAGGGTTTTTTCATC	0.403																																					GBM(22;431 510 9010 26644 32828)											0													98	90	93					6																	47684543		2203	4300	6503	SO:0001630	splice_region_variant	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1933-1G>A	6.37:g.47684543G>A			B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346175	0.82022	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	D;D;D	0.84660	-1.88;-1.88;-1.88	5.71	4.85	0.62838	GPCR, family 2-like (1);	0.074856	0.56097	N	0.000022	D	0.92414	0.7592	M	0.92317	3.295	0.52501	D	0.999955	D	0.89917	1.0	D	0.87578	0.998	D	0.93988	0.7264	10	0.87932	D	0	-19.8821	12.2872	0.54798	0.0781:0.0:0.9219:0.0	.	645	Q8IZF3	GP115_HUMAN	D	702;645;645	ENSP00000360264:G702D;ENSP00000328319:G645D;ENSP00000283303:G645D	ENSP00000283303:G645D	G	+	2	0	GPR115	47792502	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.676000	0.84012	1.562000	0.49601	0.655000	0.94253	GGT		0.403	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838	Missense_Mutation	A	47684543	G	A	47684543	5	1	503	1	0	0	0	0	0	0	1	0	6634	1275	44	2	1956	2	GPR115	6	47684543	Splice_Site	SNP	G	TCGA-CJ-4874-01A-01D-1373-10	5973453	47684543	123430524	16	27157											
SERAC1	84947	hgsc.bcm.edu	37	6	158565392	158565392	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr6:158565392C>T	ENST00000367104.3	-	7	679	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	SERAC1_ENST00000367102.2_Missense_Mutation_p.R183Q|SERAC1_ENST00000367101.1_Missense_Mutation_p.R183Q	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	183					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CTCTTCGCTTCGTGCCAAACC	0.338																																																0													85	87	87					6																	158565392		2203	4300	6503	SO:0001583	missense	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.548G>A	6.37:g.158565392C>T	ENSP00000356071:p.Arg183Gln		Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	35	5.574234	0.96553	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.71698	-0.59;-0.59;-0.59	5.8	5.8	0.92144	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.83059	0.5172	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84215	0.0458	10	0.87932	D	0	-13.0151	18.8408	0.92183	0.0:1.0:0.0:0.0	.	183	Q96JX3	SRAC1_HUMAN	Q	183	ENSP00000356069:R183Q;ENSP00000356071:R183Q;ENSP00000356068:R183Q	ENSP00000356068:R183Q	R	-	2	0	SERAC1	158485380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.288000	0.72679	2.758000	0.94735	0.563000	0.77884	CGA		0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		T	158565392	C	T	158565392	3	4	503	1	0	0	0	0	1	0	0	0	14080	884	31	1	1460	1	SERAC1	6	158565392	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	110880849	158565392	12549675	17	27158											
ESYT2	57488	hgsc.bcm.edu;ucsc.edu	37	7	158590762	158590762	+	Silent	SNP	T	T	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr7:158590762T>G	ENST00000251527.5	-	3	587	c.522A>C	c.(520-522)gtA>gtC	p.V174V	ESYT2_ENST00000497111.1_5'UTR	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	202					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						ACATGTGTTTTACAGTCTGGA	0.428																																																0													58	60	59					7																	158590762		2203	4300	6503	SO:0001819	synonymous_variant	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.522A>C	7.37:g.158590762T>G			A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	ENST00000251527.5	37	CCDS34791.1																																																																																				0.428	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		G	158590762	T	G	158590762	2	3	503	1	0	0	0	0	0	0	0	1	5267	1741	61	5		5	ESYT2	7	158590762	Silent	SNP	T	TCGA-CJ-4874-01A-01D-1373-10		158590762	547901	18	27159											
CSMD1	64478	hgsc.bcm.edu	37	8	3265496	3265496	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr8:3265496T>G	ENST00000520002.1	-	15	2554	c.1999A>C	c.(1999-2001)Agt>Cgt	p.S667R	CSMD1_ENST00000602723.1_Missense_Mutation_p.S667R|CSMD1_ENST00000400186.3_Missense_Mutation_p.S667R|CSMD1_ENST00000539096.1_Missense_Mutation_p.S666R|CSMD1_ENST00000542608.1_Missense_Mutation_p.S666R|CSMD1_ENST00000602557.1_Missense_Mutation_p.S667R|CSMD1_ENST00000537824.1_Missense_Mutation_p.S666R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	667	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATATGCCCACTGCTGGCCAGC	0.493																																																0													77	71	73					8																	3265496		1948	4147	6095	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1999A>C	8.37:g.3265496T>G	ENSP00000430733:p.Ser667Arg		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.0|22.0	4.235471|4.235471	0.79800|0.79800	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.19105	.|2.17;2.17;2.17;2.17;2.17	5.23|5.23	5.23|5.23	0.72850|0.72850	.|CUB (5);	.|0.056177	.|0.64402	.|D	.|0.000001	T|T	0.36468|0.36468	0.0968|0.0968	L|L	0.52759|0.52759	1.655|1.655	0.43073|0.43073	D|D	0.994713|0.994713	.|P;P	.|0.37276	.|0.589;0.562	.|P;P	.|0.52031	.|0.688;0.678	T|T	0.13495|0.13495	-1.0507|-1.0507	5|10	.|0.59425	.|D	.|0.04	.|.	15.1177|15.1177	0.72416|0.72416	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|667;667	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	P|R	146|667;667;529;666;666;666	.|ENSP00000383047:S667R;ENSP00000430733:S667R;ENSP00000441462:S666R;ENSP00000446243:S666R;ENSP00000441675:S666R	.|ENSP00000320445:S529R	Q|S	-|-	2|1	0|0	CSMD1|CSMD1	3252903|3252903	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.828000|0.828000	0.46876|0.46876	7.773000|7.773000	0.85462|0.85462	1.973000|1.973000	0.57446|0.57446	0.383000|0.383000	0.25322|0.25322	CAG|AGT		0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		G	3265496	T	G	3265496	3	3	503	1	0	0	0	0	1	0	0	0	3946	1580	55	5	8926	5	CSMD1	8	3265496	Missense_Mutation	SNP	T	TCGA-CJ-4874-01A-01D-1373-10		3265496	143098526	19	27160											
KIAA2026	158358	hgsc.bcm.edu	37	9	5968932	5968932	+	Silent	SNP	A	A	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr9:5968932A>G	ENST00000399933.3	-	3	1298	c.1299T>C	c.(1297-1299)ctT>ctC	p.L433L	KIAA2026_ENST00000381461.2_Silent_p.L433L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	433										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAAAGTCACAAAGACCCTTAA	0.368																																																0													35	34	34					9																	5968932		1846	4097	5943	SO:0001819	synonymous_variant	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1299T>C	9.37:g.5968932A>G			A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37																																																																																					0.368	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		G	5968932	A	G	5968932	2	3	503	1	0	0	0	0	0	0	0	1	8272	1	1	3		3	KIAA2026	9	5968932	Silent	SNP	A	TCGA-CJ-4874-01A-01D-1373-10		5968932	135244499	20	27161											
FREM1	158326	hgsc.bcm.edu;ucsc.edu	37	9	14859188	14859188	+	Silent	SNP	T	T	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr9:14859188T>G	ENST00000380880.3	-	4	1407	c.624A>C	c.(622-624)ccA>ccC	p.P208P	FREM1_ENST00000380881.4_Silent_p.P208P|FREM1_ENST00000422223.2_Silent_p.P208P			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	208					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TACGGGACTCTGGGAAAAAAC	0.493																																																0													42	43	42					9																	14859188		1882	4109	5991	SO:0001819	synonymous_variant	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.624A>C	9.37:g.14859188T>G			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																				0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		G	14859188	T	G	14859188	2	3	503	1	0	0	0	0	0	0	0	1	6046	1567	55	5		5	FREM1	9	14859188	Silent	SNP	T	TCGA-CJ-4874-01A-01D-1373-10	8890256	14859188	126354243	21	27162											
C9orf93	203238	hgsc.bcm.edu;ucsc.edu	37	9	15971713	15971713	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr9:15971713C>T	ENST00000380701.3	+	26	4188	c.3860C>T	c.(3859-3861)aCt>aTt	p.T1287I	CCDC171_ENST00000486641.2_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1287																	GAACTTGATACTACTTACACT	0.423																																																0													196	186	189					9																	15971713		2203	4300	6503	SO:0001583	missense	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3860C>T	9.37:g.15971713C>T	ENSP00000370077:p.Thr1287Ile		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782411	0.49891	.	.	ENSG00000164989	ENST00000380701	T	0.16324	2.35	4.77	4.77	0.60923	.	0.109437	0.39834	N	0.001258	T	0.23171	0.0560	N	0.19112	0.55	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.57152	0.814;0.714	T	0.03086	-1.1074	10	0.72032	D	0.01	-11.3061	16.1492	0.81602	0.0:1.0:0.0:0.0	.	1295;1287	B7ZM22;Q6TFL3	.;CI093_HUMAN	I	1287	ENSP00000370077:T1287I	ENSP00000370077:T1287I	T	+	2	0	C9orf93	15961713	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.043000	0.49823	2.463000	0.83235	0.655000	0.94253	ACT		0.423	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		T	15971713	C	T	15971713	3	4	503	1	0	0	0	0	1	0	0	0	2508	565	20	2	3958	2	C9orf93	9	15971713	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	1112525	15971713	125241718	22	27163											
IFT74	80173	hgsc.bcm.edu	37	9	26984278	26984278	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr9:26984278C>A	ENST00000443698.1	+	5	500	c.329C>A	c.(328-330)aCt>aAt	p.T110N	IFT74_ENST00000380062.5_Missense_Mutation_p.T110N|IFT74_ENST00000429045.2_Missense_Mutation_p.T110N|IFT74_ENST00000433700.1_Missense_Mutation_p.T110N	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	110			T -> A (in dbSNP:rs12004404).		cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GAACTTACAACTGAAGTTAAT	0.269																																																0													30	32	32					9																	26984278		1771	4004	5775	SO:0001583	missense	80173			AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"Intraflagellar transport homologs"	21424	protein-coding gene	gene with protein product	"capillary morphogenesis protein 1"	608040	"coiled-coil domain containing 2", "intraflagellar transport 74 homolog (Chlamydomonas)"	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.329C>A	9.37:g.26984278C>A	ENSP00000404122:p.Thr110Asn		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.596977	0.28445	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000517444;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000429045;ENST00000517866	T;T;T;T;T;T;T	0.56103	0.99;2.76;1.95;2.76;2.76;0.48;1.1	5.82	2.84	0.33178	.	0.439257	0.27012	N	0.021364	T	0.28830	0.0715	N	0.14661	0.345	0.27057	N	0.963642	B;B	0.17038	0.005;0.02	B;B	0.15052	0.007;0.012	T	0.12630	-1.0540	10	0.19590	T	0.45	-2.2617	5.934	0.19154	0.1315:0.6544:0.0:0.2141	.	110;110	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	N	110;110;110;110;110;110;110;72	ENSP00000430004:T110N;ENSP00000389224:T110N;ENSP00000430096:T110N;ENSP00000404122:T110N;ENSP00000369402:T110N;ENSP00000393907:T110N;ENSP00000430742:T72N	ENSP00000369402:T110N	T	+	2	0	IFT74	26974278	1.000000	0.71417	0.994000	0.49952	0.796000	0.44982	2.421000	0.44688	0.729000	0.32403	0.585000	0.79938	ACT		0.269	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		A	26984278	C	A	26984278	3	1	503	1	0	0	0	0	1	0	0	0	7565	565	20	4	343	4	IFT74	9	26984278	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	11012565	26984278	114229153	23	27164											
RC3H2	54542	hgsc.bcm.edu	37	9	125621286	125621286	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr9:125621286G>T	ENST00000373670.1	-	11	2545	c.1945C>A	c.(1945-1947)Cct>Act	p.P649T	RC3H2_ENST00000357244.2_Missense_Mutation_p.P649T|RC3H2_ENST00000423239.2_Missense_Mutation_p.P649T			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	649	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ATGGAAGCAGGTGGGAGGGAG	0.532																																																0													79	86	84					9																	125621286		2072	4206	6278	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1945C>A	9.37:g.125621286G>T	ENSP00000362774:p.Pro649Thr		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722740	0.68959	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.50548	0.74;0.74;0.78	5.84	5.84	0.93424	.	0.052293	0.85682	D	0.000000	T	0.53530	0.1802	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.981;0.996	T	0.56214	-0.8016	10	0.45353	T	0.12	.	17.2865	0.87143	0.0:0.0:1.0:0.0	.	649;649	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	T	649;649;520;649	ENSP00000362774:P649T;ENSP00000349783:P649T;ENSP00000411767:P649T	ENSP00000349783:P649T	P	-	1	0	RC3H2	124661107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.219000	0.72231	2.751000	0.94390	0.655000	0.94253	CCT		0.532	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		T	125621286	G	T	125621286	3	4	503	1	0	0	0	0	1	0	0	0	13173	1261	44	4	1748	4	RC3H2	9	125621286	Missense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10	98637008	125621286	15592145	24	27165											
C10orf140	387640	hgsc.bcm.edu;ucsc.edu	37	10	21804074	21804074	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr10:21804074G>T	ENST00000449193.2	-	4	4930	c.2678C>A	c.(2677-2679)tCt>tAt	p.S893Y	SKIDA1_ENST00000444772.3_Missense_Mutation_p.S814Y	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	812						nucleus (GO:0005634)											AGGTATTGCAGAACCGCCCAG	0.403																																																0													41	39	39					10																	21804074		1827	4088	5915	SO:0001583	missense	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2678C>A	10.37:g.21804074G>T	ENSP00000410041:p.Ser893Tyr		B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375185	0.42105	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.64	5.64	0.86602	.	0.214543	0.41938	D	0.000796	T	0.64757	0.2627	L	0.29908	0.895	0.42474	D	0.992835	D	0.64830	0.994	P	0.59221	0.854	T	0.67173	-0.5737	9	0.72032	D	0.01	-0.7813	19.6637	0.95885	0.0:0.0:1.0:0.0	.	893	E9PAX1	.	Y	893;814	.	ENSP00000442432:S814Y	S	-	2	0	C10orf140	21844080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.818000	0.62657	2.821000	0.97095	0.655000	0.94253	TCT		0.403	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		T	21804074	G	T	21804074	3	4	503	1	0	0	0	0	1	0	0	0	1597	942	33	4	52	4	C10orf140	10	21804074	Missense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10		21804074	113730673	25	27166											
EBF3	253738	hgsc.bcm.edu	37	10	131671770	131671770	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr10:131671770G>C	ENST00000355311.5	-	8	799	c.727C>G	c.(727-729)Cgg>Ggg	p.R243G	EBF3_ENST00000368648.3_Missense_Mutation_p.R243G			Q9H4W6	COE3_HUMAN	early B-cell factor 3	243					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R243W(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CGGCGGGCCCGCCTCCCGTGT	0.498																																																1	Substitution - Missense(1)	pancreas(1)											58	58	58					10																	131671770		2203	4300	6503	SO:0001583	missense	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.727C>G	10.37:g.131671770G>C	ENSP00000347463:p.Arg243Gly		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.055325	0.75960	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.60299	0.2;0.38	4.87	3.9	0.45041	.	0.054683	0.64402	D	0.000001	T	0.76140	0.3946	M	0.84683	2.71	0.80722	D	1	D	0.58970	0.984	D	0.66497	0.944	T	0.81008	-0.1127	10	0.87932	D	0	-14.6784	14.2397	0.65950	0.0:0.0:0.8504:0.1496	.	243	Q9H4W6-2	.	G	243	ENSP00000347463:R243G;ENSP00000357637:R243G	ENSP00000347463:R243G	R	-	1	2	EBF3	131561760	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.590000	0.46154	2.435000	0.82474	0.655000	0.94253	CGG		0.498	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		C	131671770	G	C	131671770	3	2	503	1	0	0	0	0	1	0	0	0	4884	1086	38	4	964	4	EBF3	10	131671770	Missense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10	109867696	131671770	3862977	26	27167											
HRAS	3265	hgsc.bcm.edu;ucsc.edu	37	11	533545	533545	+	Missense_Mutation	SNP	G	G	C	rs397517139		TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr11:533545G>C	ENST00000451590.1	-	4	545	c.358C>G	c.(358-360)Ctg>Gtg	p.L120V	HRAS_ENST00000397594.1_Missense_Mutation_p.L120V|HRAS_ENST00000311189.7_Missense_Mutation_p.L120V|HRAS_ENST00000397596.2_Missense_Mutation_p.L120V|HRAS_ENST00000417302.1_Missense_Mutation_p.L120V|HRAS_ENST00000468682.2_5'Flank	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	120					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTGCAGCCAGGTCACACTTG	0.627		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	0													195	173	181					11																	533545		2203	4300	6503	SO:0001583	missense	3265	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.358C>G	11.37:g.533545G>C	ENSP00000407586:p.Leu120Val		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202117	0.58234	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	4.08	3.16	0.36331	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.81498	0.4835	M	0.92507	3.315	0.80722	D	1	B;B	0.32731	0.382;0.032	B;B	0.33254	0.16;0.111	T	0.82329	-0.0511	10	0.87932	D	0	.	10.9578	0.47368	0.0936:0.0:0.9064:0.0	.	120;120	P01112-2;P01112	.;RASH_HUMAN	V	120	ENSP00000380722:L120V;ENSP00000380723:L120V;ENSP00000407586:L120V;ENSP00000388246:L120V;ENSP00000309845:L120V	ENSP00000309845:L120V	L	-	1	2	HRAS	523545	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.829000	0.86735	0.842000	0.35045	0.561000	0.74099	CTG		0.627	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		C	533545	G	C	533545	3	2	503	1	0	0	0	0	1	0	0	0	7350	991	35	4	286	4	HRAS	11	533545	Missense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10		533545	134472971	27	27168											
EPS8L2	64787	hgsc.bcm.edu;ucsc.edu	37	11	710455	710455	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr11:710455T>C	ENST00000533256.1	+	5	509	c.134T>C	c.(133-135)aTc>aCc	p.I45T	EPS8L2_ENST00000530636.1_Missense_Mutation_p.I45T|EPS8L2_ENST00000526198.1_Missense_Mutation_p.I45T|EPS8L2_ENST00000318562.8_Missense_Mutation_p.I45T|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	45					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCAACGTCATCATGCACGAG	0.632																																																0													185	146	159					11																	710455		2203	4300	6503	SO:0001583	missense	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.134T>C	11.37:g.710455T>C	ENSP00000435585:p.Ile45Thr		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804721	0.70682	.	.	ENSG00000177106	ENST00000524763;ENST00000318562;ENST00000533256;ENST00000534755;ENST00000533500;ENST00000531348;ENST00000530636;ENST00000526198	T;T;T;T;T;T	0.42900	0.98;2.04;2.04;0.96;2.04;2.08	4.07	4.07	0.47477	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.65975	2.015	0.53688	D	0.99997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.994;0.995;0.994	T	0.61642	-0.7021	10	0.48119	T	0.1	-38.4432	12.4732	0.55799	0.0:0.0:0.0:1.0	.	45;73;45	B7ZKL3;B4DFD2;Q9H6S3	.;.;ES8L2_HUMAN	T	45	ENSP00000435128:I45T;ENSP00000320828:I45T;ENSP00000435585:I45T;ENSP00000432765:I45T;ENSP00000436035:I45T;ENSP00000436230:I45T	ENSP00000320828:I45T	I	+	2	0	EPS8L2	700455	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.948000	0.75965	1.858000	0.53909	0.454000	0.30748	ATC		0.632	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		C	710455	T	C	710455	3	2	503	1	0	0	0	0	1	0	0	0	5198	1435	50	3	144	3	EPS8L2	11	710455	Missense_Mutation	SNP	T	TCGA-CJ-4874-01A-01D-1373-10	176910	710455	134296061	28	27169											
ACCS	84680	hgsc.bcm.edu;ucsc.edu	37	11	44104723	44104723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr11:44104723G>A	ENST00000263776.8	+	13	1550	c.1116G>A	c.(1114-1116)tgG>tgA	p.W372*		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	372					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						AAACAGACTGGATCAACCAGG	0.512																																					Esophageal Squamous(158;148 1889 8077 23160 41213)											0													134	138	137					11																	44104723		2203	4300	6503	SO:0001587	stop_gained	84680			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1116G>A	11.37:g.44104723G>A	ENSP00000263776:p.Trp372*		B4E219|Q8WUL4|Q96LX5	Nonsense_Mutation	SNP	ENST00000263776.8	37	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	41	8.884684	0.98990	.	.	ENSG00000110455	ENST00000263776	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4645	19.5934	0.95525	0.0:0.0:1.0:0.0	.	.	.	.	X	372	.	ENSP00000263776:W372X	W	+	3	0	ACCS	44061299	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.245000	0.95431	2.724000	0.93272	0.561000	0.74099	TGG		0.512	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		A	44104723	G	A	44104723	4	1	503	1	0	0	0	0	0	1	0	0	133	1183	41	2	1162	2	ACCS	11	44104723	Nonsense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10	43394268	44104723	90901793	29	27170											
PIK3C2G	5288	hgsc.bcm.edu	37	12	18446881	18446881	+	Silent	SNP	C	C	T	rs7301521	byFrequency	TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr12:18446881C>T	ENST00000266497.5	+	4	1004	c.966C>T	c.(964-966)tgC>tgT	p.C322C	PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000433979.1_Silent_p.C322C|PIK3C2G_ENST00000538779.1_Silent_p.C322C|PIK3C2G_ENST00000535651.1_Silent_p.C322C|RERGL_ENST00000541632.1_Intron			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	322	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGCATTTTTGCACAAATGACC	0.284													C|||	135	0.0269569	0.0038	0.072	5008	,	,		15993	0.0		0.0676	False		,,,				2504	0.0123															0								C		54,3556		0,54,1751	67	61	63		966	-1.2	0.1	12	dbSNP_116	63	708,7418		34,640,3389	no	coding-synonymous	PIK3C2G	NM_004570.4		34,694,5140	TT,TC,CC		8.7128,1.4958,6.4928		322/1446	18446881	762,10974	1805	4063	5868	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.966C>T	12.37:g.18446881C>T			A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																				0.284	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		T	18446881	C	T	18446881	2	4	503	1	0	0	0	0	0	0	0	1	11913	718	25	2		2	PIK3C2G	12	18446881	Silent	SNP	C	TCGA-CJ-4874-01A-01D-1373-10		18446881	115405014	30	27171											
KRT79	338785	hgsc.bcm.edu	37	12	53218102	53218103	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr12:53218102_53218103delCA	ENST00000330553.5	-	5	933_934	c.899_900delTG	c.(898-900)gtgfs	p.V300fs		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	300	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCATGGACAGCACCACATTGGT	0.604																																																0																																										SO:0001589	frameshift_variant	338785			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.899_900delTG	12.37:g.53218102_53218103delCA	ENSP00000328358:p.Val300fs		Q6P465|Q7Z793	Frame_Shift_Del	DEL	ENST00000330553.5	37	CCDS8839.1																																																																																				0.604	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		-	53218103	CA	-	53218102	7	5	503	1	0	1	0	1	0	0	0	0	8494	697	25	0	727	0	KRT79	12	53218102	Frame_Shift_Del	DEL	CA	TCGA-CJ-4874-01A-01D-1373-10	34771221	53218102	80633793	31	27172											
PCDH20	64881	hgsc.bcm.edu	37	13	61987429	61987429	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr13:61987429C>G	ENST00000409186.1	-	5	2908	c.803G>C	c.(802-804)cGc>cCc	p.R268P	PCDH20_ENST00000409204.4_Missense_Mutation_p.R268P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	268	Cadherin 2. {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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTAGGGGGTGCGCTCCCCATT	0.522																																																0													96	82	87					13																	61987429		2203	4300	6503	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.803G>C	13.37:g.61987429C>G	ENSP00000386653:p.Arg268Pro		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826026	0.50739	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.68181	-0.31;-0.31	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000003	T	0.59101	0.2169	N	0.25789	0.76	0.44728	D	0.997725	B	0.26445	0.149	B	0.26416	0.069	T	0.54642	-0.8263	10	0.48119	T	0.1	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	268	A8K1K9	.	P	268;268;14	ENSP00000387250:R268P;ENSP00000386653:R268P	ENSP00000351500:R14P	R	-	2	0	PCDH20	60885430	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.326000	0.59241	2.813000	0.96785	0.655000	0.94253	CGC		0.522	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		G	61987429	C	G	61987429	3	3	503	1	0	0	0	0	1	0	0	0	11517	768	27	4	2056	4	PCDH20	13	61987429	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10		61987429	53182449	32	27173											
RIPK3	11035	hgsc.bcm.edu	37	14	24808388	24808388	+	Silent	SNP	A	A	G	rs3181247	byFrequency	TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr14:24808388A>G	ENST00000216274.5	-	3	522	c.304T>C	c.(304-306)Ttg>Ctg	p.L102L	RIPK3_ENST00000554338.1_5'Flank|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)	p.L102L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		AGCCCCGACAAGGAGCCGTTC	0.572													G|||	320	0.0638978	0.1286	0.0418	5008	,	,		17983	0.001		0.0596	False		,,,				2504	0.0613				Pancreas(58;918 1191 4668 13304 15331)											1	Substitution - coding silent(1)	prostate(1)						G		524,3882	773.8+/-414.0	21,482,1700	72	66	68		304	3.8	1	14	dbSNP_105	68	416,8184	799.0+/-407.4	19,378,3903	no	coding-synonymous	RIPK3	NM_006871.3		40,860,5603	GG,GA,AA		4.8372,11.8929,7.2274		102/519	24808388	940,12066	2203	4300	6503	SO:0001819	synonymous_variant	11035			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.304T>C	14.37:g.24808388A>G			B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Silent	SNP	ENST00000216274.5	37	CCDS9628.1																																																																																				0.572	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		G	24808388	A	G	24808388	2	3	503	1	0	0	0	0	0	0	0	1	13388	69	3	3		3	RIPK3	14	24808388	Silent	SNP	A	TCGA-CJ-4874-01A-01D-1373-10		24808388	82541152	33	27174											
KLHDC2	23588	hgsc.bcm.edu;ucsc.edu	37	14	50249623	50249623	+	Silent	SNP	T	T	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr14:50249623T>G	ENST00000298307.5	+	13	2034	c.1173T>G	c.(1171-1173)ctT>ctG	p.L391L	KLHDC2_ENST00000557247.1_3'UTR|KLHDC2_ENST00000554589.1_3'UTR|NEMF_ENST00000556925.1_5'Flank	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	391						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					AACACTTACTTCACAGTGTTA	0.388																																																0													99	84	89					14																	50249623		2203	4300	6503	SO:0001819	synonymous_variant	23588			AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.1173T>G	14.37:g.50249623T>G			B3KPF9|Q6IAF0|Q86TY9	Silent	SNP	ENST00000298307.5	37	CCDS9693.1																																																																																				0.388	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			G	50249623	T	G	50249623	2	3	503	1	0	0	0	0	0	0	0	1	8358	1770	62	5		5	KLHDC2	14	50249623	Silent	SNP	T	TCGA-CJ-4874-01A-01D-1373-10	25441235	50249623	57099917	34	27175											
C14orf174	161394	hgsc.bcm.edu	37	14	77844692	77844692	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr14:77844692G>A	ENST00000216471.4	+	1	1217	c.931G>A	c.(931-933)Gac>Aac	p.D311N	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	311										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACTAAACCAGACTTTCCAGA	0.458																																																0													82	82	82					14																	77844692		2203	4300	6503	SO:0001583	missense	0			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.931G>A	14.37:g.77844692G>A	ENSP00000216471:p.Asp311Asn		Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247225	0.39697	.	.	ENSG00000100583	ENST00000216471	T	0.29142	1.58	4.77	1.94	0.25998	.	1.090860	0.07300	N	0.873900	T	0.20577	0.0495	N	0.22421	0.69	0.09310	N	1	B	0.27625	0.183	B	0.24394	0.053	T	0.29058	-1.0024	10	0.30854	T	0.27	3.7533	8.0697	0.30682	0.269:0.0:0.731:0.0	.	311	Q9P1V8	SAM15_HUMAN	N	311	ENSP00000216471:D311N	ENSP00000216471:D311N	D	+	1	0	SAMD15	76914445	0.041000	0.20044	0.002000	0.10522	0.023000	0.10783	1.638000	0.37165	0.108000	0.17862	0.555000	0.69702	GAC		0.458	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		A	77844692	G	A	77844692	3	1	503	1	0	0	0	0	1	0	0	0	1761	942	33	2	933	2	C14orf174	14	77844692	Missense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10	27595069	77844692	29504848	35	27176											
ACAN	176	hgsc.bcm.edu	37	15	89398669	89398669	+	Silent	SNP	T	T	A	rs533111868		TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr15:89398669T>A	ENST00000561243.1	+	11	2853	c.2853T>A	c.(2851-2853)gtT>gtA	p.V951V	ACAN_ENST00000352105.7_Silent_p.V951V|ACAN_ENST00000439576.2_Silent_p.V951V|ACAN_ENST00000559004.1_Silent_p.V951V			P16112	PGCA_HUMAN	aggrecan	950	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTCTGGAGTTGGGGATCTCA	0.547													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19370	0.0		0.0	False		,,,				2504	0.0															0													75	80	78					15																	89398669		1857	4111	5968	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2853T>A	15.37:g.89398669T>A			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																				0.547	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89398669	T	A	89398669	2	1	503	1	0	0	0	0	0	0	0	1	117	1799	63	5		5	ACAN	15	89398669	Silent	SNP	T	TCGA-CJ-4874-01A-01D-1373-10		89398669	13132723	36	27177											
CACNA1H	8912	hgsc.bcm.edu;ucsc.edu	37	16	1248701	1248701	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr16:1248701T>C	ENST00000348261.5	+	6	978	c.730T>C	c.(730-732)Ttc>Ctc	p.F244L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.F244L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.F244L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	244					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTTCTTCATTTTCGGCATCGT	0.632																																																0													138	152	147					16																	1248701		2178	4268	6446	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.730T>C	16.37:g.1248701T>C	ENSP00000334198:p.Phe244Leu		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.965693	0.92855	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.99158	-5.5;-5.5	3.65	3.65	0.41850	Ion transport (1);	0.120124	0.56097	D	0.000024	D	0.99324	0.9763	M	0.92880	3.355	0.37009	D	0.895633	D;D	0.71674	0.998;0.997	D;D	0.80764	0.987;0.994	D	0.99895	1.1146	10	0.87932	D	0	.	11.271	0.49138	0.0:0.0:0.0:1.0	.	244;244	O95180-2;O95180	.;CAC1H_HUMAN	L	244	ENSP00000334198:F244L;ENSP00000351401:F244L	ENSP00000334198:F244L	F	+	1	0	CACNA1H	1188702	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.050000	0.76620	1.540000	0.49301	0.444000	0.29173	TTC		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		C	1248701	T	C	1248701	3	2	503	1	0	0	0	0	1	0	0	0	2547	1841	64	3	748	3	CACNA1H	16	1248701	Missense_Mutation	SNP	T	TCGA-CJ-4874-01A-01D-1373-10		1248701	89106052	37	27178											
ABCA3	21	hgsc.bcm.edu	37	16	2376045	2376045	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr16:2376045C>G	ENST00000301732.5	-	5	985	c.285G>C	c.(283-285)gaG>gaC	p.E95D	ABCA3_ENST00000567910.1_Missense_Mutation_p.E95D|ABCA3_ENST00000382381.3_Missense_Mutation_p.E95D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	95					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGCGCACTGTCTCAGTGACGG	0.632																																																0													63	62	62					16																	2376045		2198	4300	6498	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.285G>C	16.37:g.2376045C>G	ENSP00000301732:p.Glu95Asp		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548826	0.65311	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90197	-2.63	5.63	2.46	0.29980	.	0.309220	0.34932	N	0.003565	D	0.87803	0.6269	L	0.58428	1.81	0.26813	N	0.968955	P;B;D;P	0.57899	0.494;0.417;0.981;0.462	P;B;P;P	0.46510	0.493;0.411;0.519;0.491	T	0.79662	-0.1710	10	0.38643	T	0.18	.	7.0601	0.25121	0.3057:0.6142:0.0:0.0801	.	95;157;95;95	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	D	95;157	ENSP00000301732:E95D	ENSP00000301732:E95D	E	-	3	2	ABCA3	2316046	0.960000	0.32886	0.011000	0.14972	0.014000	0.08584	2.107000	0.41844	0.268000	0.21939	0.655000	0.94253	GAG		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		G	2376045	C	G	2376045	3	3	503	1	0	0	0	0	1	0	0	0	33	912	32	4	4945	4	ABCA3	16	2376045	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	1127344	2376045	87978708	38	27179											
XYLT1	64131	hgsc.bcm.edu;ucsc.edu	37	16	17221643	17221643	+	Silent	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr16:17221643C>T	ENST00000261381.6	-	10	2187	c.2103G>A	c.(2101-2103)aaG>aaA	p.K701K		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	701					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TAGCATGATGCTTGATCAGAA	0.512																																																0													163	157	159					16																	17221643		2197	4300	6497	SO:0001819	synonymous_variant	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2103G>A	16.37:g.17221643C>T			Q9H1B6	Silent	SNP	ENST00000261381.6	37	CCDS10569.1																																																																																				0.512	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		T	17221643	C	T	17221643	2	4	503	1	0	0	0	0	0	0	0	1	17468	796	28	2		2	XYLT1	16	17221643	Silent	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	14845598	17221643	73133110	39	27180											
GTF3C1	2975	hgsc.bcm.edu;ucsc.edu	37	16	27504602	27504602	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr16:27504602C>T	ENST00000356183.4	-	17	2809	c.2794G>A	c.(2794-2796)Gaa>Aaa	p.E932K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E932K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	932					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCAGAAATTCCTCCAGGTTG	0.552																																																0													112	101	105					16																	27504602		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2794G>A	16.37:g.27504602C>T	ENSP00000348510:p.Glu932Lys		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097790	0.56075	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24723	1.84	5.38	5.38	0.77491	.	0.386003	0.29218	N	0.012782	T	0.30603	0.0770	L	0.59436	1.845	0.31948	N	0.610106	P;P	0.48911	0.917;0.804	B;B	0.41946	0.285;0.371	T	0.35724	-0.9777	10	0.34782	T	0.22	-14.1759	18.7489	0.91806	0.0:1.0:0.0:0.0	.	932;932	Q12789;Q12789-3	TF3C1_HUMAN;.	K	932;930	ENSP00000348510:E932K	ENSP00000348510:E932K	E	-	1	0	GTF3C1	27412103	1.000000	0.71417	0.978000	0.43139	0.233000	0.25261	5.389000	0.66255	2.507000	0.84556	0.655000	0.94253	GAA		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		T	27504602	C	T	27504602	3	4	503	1	0	0	0	0	1	0	0	0	6874	864	30	2	3619	2	GTF3C1	16	27504602	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	10282959	27504602	62850151	40	27181											
PLCG2	5336	hgsc.bcm.edu	37	16	81934322	81934322	+	Silent	SNP	C	C	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr16:81934322C>G	ENST00000359376.3	+	14	1513	c.1299C>G	c.(1297-1299)ccC>ccG	p.P433P		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	433	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGACGAAGCCCACGGAGGCCA	0.612																																																0													44	50	48					16																	81934322		2137	4254	6391	SO:0001819	synonymous_variant	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1299C>G	16.37:g.81934322C>G			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	CCDS42204.1																																																																																				0.612	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			G	81934322	C	G	81934322	2	3	503	1	0	0	0	0	0	0	0	1	12038	581	21	4		4	PLCG2	16	81934322	Silent	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	54429720	81934322	8420431	41	27182											
CNTNAP1	8506	hgsc.bcm.edu	37	17	40844515	40844515	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr17:40844515A>T	ENST00000264638.4	+	17	2747		c.e17-1		CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1						axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACACTGTCCAGCATCCCGGG	0.512																																																0													115	100	105					17																	40844515		2203	4300	6503	SO:0001630	splice_region_variant	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2531-1A>T	17.37:g.40844515A>T				Splice_Site	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.888444	0.72524	.	.	ENSG00000108797	ENST00000264638	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4222	0.75022	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP1	38098041	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	8.315000	0.89983	2.234000	0.73211	0.459000	0.35465	.		0.512	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	Intron	T	40844515	A	T	40844515	5	4	503	1	0	0	0	0	0	0	1	0	3648	202	7	5	2595	5	CNTNAP1	17	40844515	Splice_Site	SNP	A	TCGA-CJ-4874-01A-01D-1373-10		40844515	40350695	42	27183											
MED13	9969	hgsc.bcm.edu	37	17	60140649	60140649	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr17:60140649C>T	ENST00000397786.2	-	2	156	c.80G>A	c.(79-81)gGa>gAa	p.G27E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	27					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCACTTAATTCCTGTCAAGTC	0.378																																																0													94	93	93					17																	60140649		1852	4086	5938	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.80G>A	17.37:g.60140649C>T	ENSP00000380888:p.Gly27Glu		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003804	0.93287	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.81821	-1.54	5.67	5.67	0.87782	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92008	0.5616	10	0.87932	D	0	-13.2485	19.7607	0.96316	0.0:1.0:0.0:0.0	.	27	Q9UHV7	MED13_HUMAN	E	27	ENSP00000380888:G27E	ENSP00000262436:G27E	G	-	2	0	MED13	57495431	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	7.818000	0.86416	2.658000	0.90341	0.655000	0.94253	GGA		0.378	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		T	60140649	C	T	60140649	3	4	503	1	0	0	0	0	1	0	0	0	9432	855	30	2	6560	2	MED13	17	60140649	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	19296134	60140649	21054561	43	27184											
TSHZ1	10194	hgsc.bcm.edu;ucsc.edu	37	18	72998919	72998919	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr18:72998919G>T	ENST00000580243.1	+	2	1905	c.1557G>T	c.(1555-1557)gaG>gaT	p.E519D	TSHZ1_ENST00000322038.5_Missense_Mutation_p.E474D			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	519					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCAAGGAGGAGAGTGAGGACA	0.597																																																0													120	124	123					18																	72998919		2203	4300	6503	SO:0001583	missense	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1557G>T	18.37:g.72998919G>T	ENSP00000464391:p.Glu519Asp		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	G	10.97	1.500239	0.26861	.	.	ENSG00000179981	ENST00000322038	T	0.32988	1.43	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.41143	0.1146	M	0.80183	2.485	0.32640	N	0.520762	P	0.51351	0.944	P	0.46796	0.527	T	0.52741	-0.8535	10	0.14656	T	0.56	-37.1277	12.8704	0.57962	0.0745:0.0:0.9255:0.0	.	519	Q6ZSZ6	TSH1_HUMAN	D	474	ENSP00000323584:E474D	ENSP00000323584:E474D	E	+	3	2	TSHZ1	71127907	1.000000	0.71417	0.516000	0.27786	0.937000	0.57800	2.850000	0.48294	0.083000	0.17047	0.459000	0.35465	GAG		0.597	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		T	72998919	G	T	72998919	3	4	503	1	0	0	0	0	1	0	0	0	16628	933	33	4	1424	4	TSHZ1	18	72998919	Missense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10		72998919	5078329	44	27185											
GNA15	2769	hgsc.bcm.edu	37	19	3162989	3162989	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr19:3162989G>T	ENST00000262958.3	+	7	1355	c.1097G>T	c.(1096-1098)cGc>cTc	p.R366L		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	366					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GTGCTCGCCCGCTACCTGGAC	0.667											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													80	68	72					19																	3162989		2203	4300	6503	SO:0001583	missense	2769				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.1097G>T	19.37:g.3162989G>T	ENSP00000262958:p.Arg366Leu	609	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	g	14.87	2.663609	0.47572	.	.	ENSG00000060558	ENST00000262958	D	0.81821	-1.54	3.9	3.9	0.45041	.	0.111669	0.37669	N	0.001982	T	0.60650	0.2285	N	0.13003	0.285	0.39014	D	0.959609	B	0.06786	0.001	B	0.14023	0.01	T	0.55088	-0.8195	10	0.14252	T	0.57	.	7.2896	0.26358	0.1199:0.0:0.8801:0.0	.	366	P30679	GNA15_HUMAN	L	366	ENSP00000262958:R366L	ENSP00000262958:R366L	R	+	2	0	GNA15	3113989	0.799000	0.28903	1.000000	0.80357	0.972000	0.66771	2.783000	0.47766	2.001000	0.58596	0.491000	0.48974	CGC		0.667	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		T	3162989	G	T	3162989	3	4	503	1	0	0	0	0	1	0	0	0	6505	1087	38	4	1123	4	GNA15	19	3162989	Missense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10		3162989	55965994	45	27186											
TRIP10	9322	hgsc.bcm.edu;ucsc.edu	37	19	6744588	6744588	+	Silent	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr19:6744588C>T	ENST00000313244.9	+	8	701	c.666C>T	c.(664-666)cgC>cgT	p.R222R	TRIP10_ENST00000596758.1_Silent_p.R222R|TRIP10_ENST00000600428.1_Silent_p.R114R|TRIP10_ENST00000313285.8_Silent_p.R222R			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	222	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TGGATGAACGCAGGGCCACCC	0.582																																																0													108	118	114					19																	6744588		2203	4300	6503	SO:0001819	synonymous_variant	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.666C>T	19.37:g.6744588C>T			B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37																																																																																					0.582	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			T	6744588	C	T	6744588	2	4	503	1	0	0	0	0	0	0	0	1	16559	697	25	2		2	TRIP10	19	6744588	Silent	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	3581599	6744588	52384395	46	27187											
ZNF442	79973	hgsc.bcm.edu	37	19	12460568	12460568	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr19:12460568A>G	ENST00000242804.4	-	6	2413	c.1831T>C	c.(1831-1833)Tct>Cct	p.S611P	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.S542P	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	611					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						GAACTGAGAGAACTCAGTGCC	0.388																																																0													102	91	95					19																	12460568		2203	4300	6503	SO:0001583	missense	79973			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"Zinc fingers, C2H2-type", "-"	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1831T>C	19.37:g.12460568A>G	ENSP00000242804:p.Ser611Pro		B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.286257	0.23478	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.61274	0.12;0.12	0.792	0.792	0.18625	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69151	0.3079	M	0.78223	2.4	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.54807	-0.8238	9	0.36615	T	0.2	.	5.8456	0.18663	1.0:0.0:0.0:0.0	.	611	Q9H7R0	ZN442_HUMAN	P	611;542	ENSP00000242804:S611P;ENSP00000388634:S542P	ENSP00000242804:S611P	S	-	1	0	ZNF442	12321568	0.006000	0.16342	0.000000	0.03702	0.275000	0.26752	0.922000	0.28734	0.613000	0.30089	0.254000	0.18369	TCT		0.388	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		G	12460568	A	G	12460568	3	3	503	1	0	0	0	0	1	0	0	0	17920	246	9	3	56	3	ZNF442	19	12460568	Missense_Mutation	SNP	A	TCGA-CJ-4874-01A-01D-1373-10	5715980	12460568	46668415	47	27188											
ZNF791	163049	hgsc.bcm.edu;ucsc.edu	37	19	12739410	12739410	+	Missense_Mutation	SNP	A	A	G	rs148416734		TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr19:12739410A>G	ENST00000343325.4	+	4	1229	c.1067A>G	c.(1066-1068)tAt>tGt	p.Y356C	ZNF791_ENST00000458122.3_Missense_Mutation_p.Y324C|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000540038.1_Missense_Mutation_p.Y247C	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GAGAAACCCTATAAGTGTAAA	0.413																																																0								A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	56	60	59		1067	1.8	0.6	19	dbSNP_134	59	0,8600		0,0,4300	no	missense	ZNF791	NM_153358.2	194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	356/577	12739410	1,13005	2203	4300	6503	SO:0001583	missense	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1067A>G	19.37:g.12739410A>G	ENSP00000342974:p.Tyr356Cys		B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	A	8.038	0.763213	0.15914	2.27E-4	0.0	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.25414	1.8;1.8;1.8	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46927	0.1418	M	0.81239	2.535	0.09310	N	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.20042	-1.0287	9	0.87932	D	0	.	4.7437	0.13028	0.6707:0.3293:0.0:0.0	.	356	Q3KP31	ZN791_HUMAN	C	356;338;324;247	ENSP00000342974:Y356C;ENSP00000441761:Y324C;ENSP00000441038:Y247C	ENSP00000342974:Y356C	Y	+	2	0	ZNF791	12600410	0.005000	0.15991	0.650000	0.29550	0.337000	0.28794	0.899000	0.28417	0.834000	0.34852	0.402000	0.26972	TAT		0.413	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		G	12739410	A	G	12739410	3	3	503	1	0	0	0	0	1	0	0	0	18168	449	16	3	1081	3	ZNF791	19	12739410	Missense_Mutation	SNP	A	TCGA-CJ-4874-01A-01D-1373-10	278842	12739410	46389573	48	27189											
PRODH2	58510	hgsc.bcm.edu	37	19	36290976	36290976	+	Silent	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr19:36290976C>T	ENST00000301175.3	-	11	1592	c.1575G>A	c.(1573-1575)cgG>cgA	p.R525R	AC002398.5_ENST00000433059.1_lincRNA	NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	525			R -> Q (in dbSNP:rs3761097).		proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCAGCCGCCGCCACAGTT	0.612																																																0													30	24	26					19																	36290976		2203	4300	6503	SO:0001819	synonymous_variant	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.1575G>A	19.37:g.36290976C>T				Silent	SNP	ENST00000301175.3	37	CCDS12478.1																																																																																				0.612	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		T	36290976	C	T	36290976	2	4	503	1	0	0	0	0	0	0	0	1	12554	726	26	2		2	PRODH2	19	36290976	Silent	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	23551566	36290976	22838007	49	27190											
CD79A	973	hgsc.bcm.edu	37	19	42384963	42384963	+	Silent	SNP	T	T	C			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr19:42384963T>C	ENST00000221972.3	+	5	782	c.597T>C	c.(595-597)taT>taC	p.Y199Y	ARHGEF1_ENST00000354532.3_5'Flank|ARHGEF1_ENST00000347545.4_5'Flank|CD79A_ENST00000444740.2_Silent_p.Y161Y|ARHGEF1_ENST00000599846.1_5'Flank	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	199	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GCTCCATGTATGAGGACATCT	0.627			"O, S"		DLBCL																																		Dom	yes		19	19q13.2	973	"CD79a molecule, immunoglobulin-associated alpha"		L	0													34	29	31					19																	42384963		2203	4299	6502	SO:0001819	synonymous_variant	973			M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.597T>C	19.37:g.42384963T>C			A0N775|Q53FB8	Silent	SNP	ENST00000221972.3	37	CCDS12589.1																																																																																				0.627	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			C	42384963	T	C	42384963	2	2	503	1	0	0	0	0	0	0	0	1	3038	1471	51	3		3	CD79A	19	42384963	Silent	SNP	T	TCGA-CJ-4874-01A-01D-1373-10	6093987	42384963	16744020	50	27191											
ZFP112	7771	hgsc.bcm.edu	37	19	44832764	44832764	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr19:44832764G>C	ENST00000337401.4	-	5	1652	c.1564C>G	c.(1564-1566)Cag>Gag	p.Q522E	ZNF112_ENST00000354340.4_Missense_Mutation_p.Q516E|ZNF112_ENST00000536500.1_Missense_Mutation_p.Q539E	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TATGGCTTCTGTCCAGTGTGG	0.408																																																0													118	116	117					19																	44832764		2203	4300	6503	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1564C>G	19.37:g.44832764G>C	ENSP00000337081:p.Gln522Glu		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	0.507	-0.868153	0.02590	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.11712	2.75;2.75;2.75	5.1	2.96	0.34315	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.244826	0.21003	N	0.081824	T	0.01558	0.0050	N	0.00063	-2.32	0.29128	N	0.879834	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40384	-0.9566	10	0.02654	T	1	-4.5268	8.4372	0.32795	0.0:0.6686:0.2313:0.1001	.	521;539;522	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	E	522;522;516;539;521	ENSP00000337081:Q522E;ENSP00000346305:Q516E;ENSP00000441990:Q539E	ENSP00000253426:Q521E	Q	-	1	0	ZNF285	49524604	0.995000	0.38212	0.968000	0.41197	0.877000	0.50540	3.171000	0.50824	0.667000	0.31107	0.655000	0.94253	CAG		0.408	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		C	44832764	G	C	44832764	3	2	503	1	0	0	0	0	1	0	0	0	17643	1386	48	4	1181	4	ZFP112	19	44832764	Missense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10	2447801	44832764	14296219	51	27192											
LILRB4	11006	hgsc.bcm.edu	37	19	55176302	55176302	+	Splice_Site	SNP	T	T	A			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr19:55176302T>A	ENST00000391736.1	+	7	1021		c.e7+2		LILRB4_ENST00000391734.3_Splice_Site|LILRB4_ENST00000430952.2_Splice_Site|LILRB4_ENST00000391733.3_Splice_Site|LILRB4_ENST00000270452.2_Splice_Site	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4						immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CAACAGCTGGTGAGTCTCAGA	0.572																																																0													64	57	59					19																	55176302		2203	4300	6503	SO:0001630	splice_region_variant	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.706+2T>A	19.37:g.55176302T>A			A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Splice_Site	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	.	9.479	1.097532	0.20552	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	.	.	.	2.43	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.21675	N	0.999594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3823	0.16197	0.0:0.0:0.2965:0.7035	.	.	.	.	.	-1	.	.	.	+	.	.	LILRB4	59868114	0.000000	0.05858	0.057000	0.19452	0.352000	0.29268	0.001000	0.13038	0.318000	0.23185	0.491000	0.48974	.		0.572	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3		Intron	A	55176302	T	A	55176302	5	1	503	1	0	0	0	0	0	0	1	0	8795	1710	59	5	726	5	LILRB4	19	55176302	Splice_Site	SNP	T	TCGA-CJ-4874-01A-01D-1373-10	10343538	55176302	3952681	52	27193											
ZNF530	348327	hgsc.bcm.edu	37	19	58118342	58118342	+	Silent	SNP	A	A	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr19:58118342A>T	ENST00000332854.6	+	3	1669	c.1449A>T	c.(1447-1449)acA>acT	p.T483T	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACACCAGACAGTTCACACTG	0.413																																																0													73	68	70					19																	58118342		2203	4300	6503	SO:0001819	synonymous_variant	348327			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1449A>T	19.37:g.58118342A>T			O43340|Q9P220	Silent	SNP	ENST00000332854.6	37	CCDS12955.1																																																																																				0.413	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		T	58118342	A	T	58118342	2	4	503	1	0	0	0	0	0	0	0	1	17976	175	7	5		5	ZNF530	19	58118342	Silent	SNP	A	TCGA-CJ-4874-01A-01D-1373-10	2942040	58118342	1010641	53	27194											
CENPB	1059	hgsc.bcm.edu	37	20	3765902	3765902	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr20:3765902T>A	ENST00000379751.4	-	1	1435	c.1229A>T	c.(1228-1230)gAg>gTg	p.E410V	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	410	Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						ttcctcctcctcctcctcttc	0.602																																																0													59	49	52					20																	3765902		2202	4299	6501	SO:0001583	missense	1059			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1229A>T	20.37:g.3765902T>A	ENSP00000369075:p.Glu410Val		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	t	10.12	1.261767	0.23051	.	.	ENSG00000125817	ENST00000379751	T	0.05319	3.46	4.14	4.14	0.48551	.	.	.	.	.	T	0.04543	0.0124	N	0.19112	0.55	0.30679	N	0.75258	D	0.54964	0.969	B	0.41135	0.348	T	0.22730	-1.0208	9	0.25106	T	0.35	-8.0	9.8636	0.41129	0.0:0.0:0.0:1.0	.	410	P07199	CENPB_HUMAN	V	410	ENSP00000369075:E410V	ENSP00000369075:E410V	E	-	2	0	CENPB	3713902	0.915000	0.31059	0.982000	0.44146	0.767000	0.43475	2.500000	0.45381	1.642000	0.50584	0.449000	0.29647	GAG		0.602	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		A	3765902	T	A	3765902	3	1	503	1	0	0	0	0	1	0	0	0	3229	1551	54	5	574	5	CENPB	20	3765902	Missense_Mutation	SNP	T	TCGA-CJ-4874-01A-01D-1373-10		3765902	59259618	54	27195											
TSHZ2	128553	hgsc.bcm.edu	37	20	51870958	51870958	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chr20:51870958A>T	ENST00000371497.5	+	2	1848	c.961A>T	c.(961-963)Aag>Tag	p.K321*	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.K318*|TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.K318*	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	321					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACCCCGGCTAAGAAACGCGT	0.448																																																0													74	81	79					20																	51870958		2203	4300	6503	SO:0001587	stop_gained	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.961A>T	20.37:g.51870958A>T	ENSP00000360552:p.Lys321*		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Nonsense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	A	44	11.088252	0.99514	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	.	.	.	5.8	5.8	0.92144	.	0.045464	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5457	16.1354	0.81481	1.0:0.0:0.0:0.0	.	.	.	.	X	321;318	.	ENSP00000333114:K318X	K	+	1	0	TSHZ2	51304365	1.000000	0.71417	0.901000	0.35422	0.651000	0.38670	8.956000	0.93066	2.206000	0.71126	0.523000	0.50628	AAG		0.448	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		T	51870958	A	T	51870958	4	4	503	1	0	0	0	0	0	1	0	0	16629	363	13	5	967	5	TSHZ2	20	51870958	Nonsense_Mutation	SNP	A	TCGA-CJ-4874-01A-01D-1373-10	48105056	51870958	11154562	55	27196											
MAGEB2	4113	hgsc.bcm.edu	37	X	30236765	30236765	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chrX:30236765G>T	ENST00000378988.4	+	2	169	c.68G>T	c.(67-69)cGg>cTg	p.R23L		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	23										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GATGAGACCCGGGGTCTCAAT	0.567																																																0													37	35	36					X																	30236765		2202	4300	6502	SO:0001583	missense	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.68G>T	X.37:g.30236765G>T	ENSP00000368273:p.Arg23Leu		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472561	0.26423	.	.	ENSG00000099399	ENST00000378988	T	0.04234	3.67	3.43	0.959	0.19624	Melanoma associated antigen, MAGE, N-terminal (1);	0.653207	0.14428	N	0.320189	T	0.02193	0.0068	N	0.04203	-0.255	0.09310	N	1	B	0.20164	0.042	B	0.24701	0.055	T	0.44937	-0.9295	10	0.40728	T	0.16	.	3.0051	0.06026	0.5076:0.2281:0.2643:0.0	.	23	O15479	MAGB2_HUMAN	L	23	ENSP00000368273:R23L	ENSP00000368273:R23L	R	+	2	0	MAGEB2	30146686	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.065000	0.11617	-0.166000	0.10890	-1.641000	0.00772	CGG		0.567	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		T	30236765	G	T	30236765	3	4	503	1	0	0	0	0	1	0	0	0	9178	1116	39	4	70	4	MAGEB2	23	30236765	Missense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10		30236765	125033795	56	27197											
TMEM47	83604	hgsc.bcm.edu	37	X	34657472	34657472	+	Missense_Mutation	SNP	C	C	T	rs112608415		TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chrX:34657472C>T	ENST00000275954.3	-	2	517	c.259G>A	c.(259-261)Ggc>Agc	p.G87S		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	87						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G87C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCAGCGCCGCCCAGGAGTAAA	0.438																																																1	Substitution - Missense(1)	lung(1)											62	55	57					X																	34657472		2202	4300	6502	SO:0001583	missense	83604			AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"transmembrane 4 superfamily member 10"	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.259G>A	X.37:g.34657472C>T	ENSP00000275954:p.Gly87Ser		Q5JR44	Missense_Mutation	SNP	ENST00000275954.3	37	CCDS14235.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854639	0.71719	.	.	ENSG00000147027	ENST00000275954	T	0.67865	-0.29	5.98	5.98	0.97165	.	0.045963	0.85682	D	0.000000	T	0.57301	0.2044	N	0.22421	0.69	0.80722	D	1	B	0.21606	0.058	B	0.24848	0.056	T	0.52041	-0.8628	10	0.40728	T	0.16	-22.0154	18.1776	0.89766	0.0:1.0:0.0:0.0	.	87	Q9BQJ4	TMM47_HUMAN	S	87	ENSP00000275954:G87S	ENSP00000275954:G87S	G	-	1	0	TMEM47	34567393	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	7.487000	0.81328	2.516000	0.84829	0.538000	0.68166	GGC		0.438	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	NM_031442		T	34657472	C	T	34657472	3	4	503	1	0	0	0	0	1	0	0	0	16176	623	22	2	294	2	TMEM47	23	34657472	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	4420707	34657472	120613088	57	27198											
FAM47C	442444	hgsc.bcm.edu	37	X	37027645	37027645	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chrX:37027645C>T	ENST00000358047.3	+	1	1214	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	388										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACTCGCGTACCTCCTCTCCG	0.622																																																0													61	61	61					X																	37027645		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1162C>T	X.37:g.37027645C>T	ENSP00000367913:p.Pro388Ser		Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	t	0.024	-1.394771	0.01175	.	.	ENSG00000198173	ENST00000358047	T	0.08634	3.07	1.23	-2.47	0.06442	.	.	.	.	.	T	0.02193	0.0068	N	0.01779	-0.725	0.09310	N	1	B	0.20988	0.05	B	0.18263	0.021	T	0.45234	-0.9275	9	0.07813	T	0.8	.	4.4933	0.11824	0.0:0.605:0.0:0.395	.	388	Q5HY64	FA47C_HUMAN	S	388	ENSP00000367913:P388S	ENSP00000367913:P388S	P	+	1	0	FAM47C	36937566	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-3.104000	0.00603	-0.627000	0.05589	-1.121000	0.02013	CCT		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		T	37027645	C	T	37027645	3	4	503	1	0	0	0	0	1	0	0	0	5573	507	18	2	1164	2	FAM47C	23	37027645	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	2370173	37027645	118242915	58	27199											
TRO	7216	hgsc.bcm.edu	37	X	54957276	54957276	+	Silent	SNP	T	T	A			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chrX:54957276T>A	ENST00000173898.7	+	12	4231	c.4119T>A	c.(4117-4119)acT>acA	p.T1373T	TRO_ENST00000375041.2_Silent_p.T976T|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.T904T|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1373	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GACCAAGCACTGGTGTTGGCT	0.592																																																0													82	84	83					X																	54957276		2056	4174	6230	SO:0001819	synonymous_variant	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4119T>A	X.37:g.54957276T>A			B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	CCDS43959.1																																																																																				0.592	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		A	54957276	T	A	54957276	2	1	503	1	0	0	0	0	0	0	0	1	16579	1567	55	5		5	TRO	23	54957276	Silent	SNP	T	TCGA-CJ-4874-01A-01D-1373-10	17929631	54957276	100313284	59	27200											
OGT	8473	hgsc.bcm.edu;ucsc.edu	37	X	70756092	70756092	+	Silent	SNP	A	A	G			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chrX:70756092A>G	ENST00000373719.3	+	2	319	c.102A>G	c.(100-102)gcA>gcG	p.A34A	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Silent_p.A24A	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	34					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AATATCAGGCAGGAGATTTTG	0.458																																																0													103	87	92					X																	70756092		2203	4300	6503	SO:0001819	synonymous_variant	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.102A>G	X.37:g.70756092A>G			Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	CCDS14414.1																																																																																				0.458	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		G	70756092	A	G	70756092	2	3	503	1	0	0	0	0	0	0	0	1	10849	175	7	3		3	OGT	23	70756092	Silent	SNP	A	TCGA-CJ-4874-01A-01D-1373-10	15798816	70756092	84514468	60	27201											
PHKA1	5255	hgsc.bcm.edu;ucsc.edu	37	X	71802268	71802268	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chrX:71802268C>T	ENST00000373542.4	-	31	3637	c.3478G>A	c.(3478-3480)Gac>Aac	p.D1160N	PHKA1_ENST00000373545.3_Missense_Mutation_p.D1118N|PHKA1_ENST00000373539.3_Missense_Mutation_p.D1177N|PHKA1_ENST00000541944.1_Missense_Mutation_p.D1088N|PHKA1_ENST00000339490.3_Missense_Mutation_p.D1147N	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1160					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGGAACAAGTCATTGGCAATA	0.423																																																0													106	78	87					X																	71802268		2203	4300	6503	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3478G>A	X.37:g.71802268C>T	ENSP00000362643:p.Asp1160Asn		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018379	0.75275	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91124	-2.77;-2.79;-2.76;-2.75;-2.76	5.33	5.33	0.75918	.	0.196895	0.52532	D	0.000067	D	0.89856	0.6836	L	0.55990	1.75	0.58432	D	0.999996	P;B;B;P	0.49358	0.732;0.14;0.118;0.923	B;B;B;P	0.48524	0.29;0.097;0.062;0.58	D	0.87394	0.2365	10	0.14656	T	0.56	-11.8996	15.4029	0.74855	0.0:1.0:0.0:0.0	.	1088;1118;1147;1160	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	N	1118;1160;1088;1147;1177	ENSP00000362646:D1118N;ENSP00000362643:D1160N;ENSP00000441251:D1088N;ENSP00000342469:D1147N;ENSP00000362640:D1177N	ENSP00000342469:D1147N	D	-	1	0	PHKA1	71718993	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.734000	0.84928	2.230000	0.72887	0.538000	0.68166	GAC		0.423	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			T	71802268	C	T	71802268	3	4	503	1	0	0	0	0	1	0	0	0	11845	826	29	2	201	2	PHKA1	23	71802268	Missense_Mutation	SNP	C	TCGA-CJ-4874-01A-01D-1373-10	1046176	71802268	83468292	61	27202											
TAF7L	54457	hgsc.bcm.edu;ucsc.edu	37	X	100547952	100547952	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4874-01A-01D-1373-10	TCGA-CJ-4874-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	a625b4ef-cab6-4e63-b48f-dc6b69faaf5d	9bcf5c2a-6391-4368-9726-ff1cf3cee868	g.chrX:100547952G>T	ENST00000372907.3	-	1	93	c.82C>A	c.(82-84)Caa>Aaa	p.Q28K	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	28					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GGTTCTTGTTGGCTAGTTACT	0.532																																					Ovarian(104;431 1530 3210 15406 18594)											0													234	233	233					X																	100547952		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.82C>A	X.37:g.100547952G>T	ENSP00000361998:p.Gln28Lys		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	G	6.457	0.452410	0.12283	.	.	ENSG00000102387	ENST00000372907	T	0.13420	2.59	3.67	-7.34	0.01427	.	4.241640	0.00678	N	0.000678	T	0.06234	0.0161	N	0.19112	0.55	0.09310	N	0.999999	B	0.10296	0.003	B	0.01281	0.0	T	0.37502	-0.9703	10	0.02654	T	1	18.4255	4.9815	0.14168	0.1457:0.1161:0.6217:0.1164	.	28	Q5H9L4	TAF7L_HUMAN	K	28	ENSP00000361998:Q28K	ENSP00000361998:Q28K	Q	-	1	0	TAF7L	100434608	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.577000	0.05847	-2.462000	0.00535	-0.956000	0.02647	CAA		0.532	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			T	100547952	G	T	100547952	3	4	503	1	0	0	0	0	1	0	0	0	15538	1357	47	4	1358	4	TAF7L	23	100547952	Missense_Mutation	SNP	G	TCGA-CJ-4874-01A-01D-1373-10	28745684	100547952	54722608	62	27203											
CLCN6	1185	hgsc.bcm.edu;ucsc.edu	37	1	11896157	11896157	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:11896157G>A	ENST00000346436.6	+	18	1979	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.E643K|CLCN6_ENST00000376487.3_Missense_Mutation_p.E621K	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	643	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCGGTAACGAGAAGGAGTT	0.557																																																0													118	96	103					1																	11896157		2203	4300	6503	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1927G>A	1.37:g.11896157G>A	ENSP00000234488:p.Glu643Lys		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289501	0.80914	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91521	-2.85;-2.84;-2.86	5.71	5.71	0.89125	Cystathionine beta-synthase, core (2);	0.000000	0.85682	D	0.000000	T	0.81083	0.4749	N	0.14661	0.345	0.80722	D	1	P;P	0.45348	0.826;0.856	B;B	0.32805	0.145;0.153	T	0.81611	-0.0854	10	0.27082	T	0.32	-33.203	18.8314	0.92141	0.0:0.0:1.0:0.0	.	621;643	F8W9R3;P51797	.;CLCN6_HUMAN	K	643;621;643	ENSP00000234488:E643K;ENSP00000365670:E621K;ENSP00000365679:E643K	ENSP00000234488:E643K	E	+	1	0	CLCN6	11818744	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	9.476000	0.97823	2.700000	0.92200	0.462000	0.41574	GAG		0.557	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		A	11896157	G	A	11896157	3	1	504	1	0	0	0	0	1	0	0	0	3469	1059	37	1	2007	1	CLCN6	1	11896157	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10		11896157	237354464	1	27204											
PTPRF	5792	hgsc.bcm.edu	37	1	44086831	44086831	+	Silent	SNP	C	C	T	rs1143702	byFrequency	TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:44086831C>T	ENST00000359947.4	+	33	5923	c.5583C>T	c.(5581-5583)taC>taT	p.Y1861Y	PTPRF_ENST00000422171.2_Silent_p.Y1220Y|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.Y1861Y|PTPRF_ENST00000438120.1_Silent_p.Y1852Y|PTPRF_ENST00000372413.3_Silent_p.Y1852Y	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1861	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCATGCGCTACGAGGGCGTGG	0.617													c|||	2857	0.570487	0.5507	0.5014	5008	,	,		22363	0.6855		0.6441	False		,,,				2504	0.4519															0								T	,	2561,1845	634.9+/-396.3	749,1063,391	85	67	73		5583,5556	-9.5	0.2	1	dbSNP_86	73	5727,2873	672.1+/-402.9	1938,1851,511	no	coding-synonymous,coding-synonymous	PTPRF	NM_002840.3,NM_130440.2	,	2687,2914,902	TT,TC,CC		33.407,41.8747,36.2756	,	1861/1908,1852/1899	44086831	8288,4718	2203	4300	6503	SO:0001819	synonymous_variant	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5583C>T	1.37:g.44086831C>T			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	1276|1276	0.5842490842490843|0.5842490842490843	270|270	0.5487804878048781|0.5487804878048781	199|199	0.5497237569060773|0.5497237569060773	357|357	0.6241258741258742|0.6241258741258742	450|450	0.5936675461741425|0.5936675461741425	c|c	7.649|7.649	0.682443|0.682443	0.14907|0.14907	0.581253|0.581253	0.66593|0.66593	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.76|4.76	-9.52|-9.52	0.00578|0.00578	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00012	.|0.0000	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.01202	.|-1.1420	.|3	.|.	.|.	.|.	.|.	15.3071|15.3071	0.74001|0.74001	0.0:0.3821:0.0:0.6179|0.0:0.3821:0.0:0.6179	rs1143702;rs7517450;rs17849120;rs1143702|rs1143702;rs7517450;rs17849120;rs1143702	.|.	.|.	.|.	X|M	1245;1286|1507	.|.	.|.	R|T	+|+	1|2	2|0	PTPRF|PTPRF	43859418|43859418	0.000000|0.000000	0.05858|0.05858	0.150000|0.150000	0.22450|0.22450	0.932000|0.932000	0.56968|0.56968	-2.838000|-2.838000	0.00739|0.00739	-2.452000|-2.452000	0.00542|0.00542	-2.203000|-2.203000	0.00303|0.00303	CGA|ACG		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			T	44086831	C	T	44086831	2	4	504	1	0	0	0	0	0	0	0	1	12807	547	19	1		1	PTPRF	1	44086831	Silent	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	32190674	44086831	205163790	2	27205											
PTCH2	8643	hgsc.bcm.edu	37	1	45292921	45292921	+	Missense_Mutation	SNP	C	C	A	rs112613379	byFrequency	TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:45292921C>A	ENST00000372192.3	-	16	2562	c.2432G>T	c.(2431-2433)cGc>cTc	p.R811L	PTCH2_ENST00000447098.2_Missense_Mutation_p.R811L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	811					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.R811H(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGAGCCATTGCGGTACGAGTG	0.622									Basal Cell Nevus syndrome																																							1	Substitution - Missense(1)	large_intestine(1)											69	77	74					1																	45292921		2203	4300	6503	SO:0001583	missense	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2432G>T	1.37:g.45292921C>A	ENSP00000361266:p.Arg811Leu		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344047	0.41498	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.84146	-1.81;-1.81	4.93	4.93	0.64822	.	0.131649	0.35320	N	0.003285	T	0.80177	0.4575	L	0.35854	1.095	0.54753	D	0.999984	B;B	0.15473	0.011;0.013	B;B	0.15870	0.013;0.014	T	0.74287	-0.3714	10	0.25751	T	0.34	-17.3707	18.5308	0.90992	0.0:1.0:0.0:0.0	.	811;811	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	L	811	ENSP00000389703:R811L;ENSP00000361266:R811L	ENSP00000361266:R811L	R	-	2	0	PTCH2	45065508	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	1.403000	0.34612	2.445000	0.82738	0.557000	0.71058	CGC		0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		A	45292921	C	A	45292921	3	1	504	1	0	0	0	0	1	0	0	0	12736	768	27	4	1227	4	PTCH2	1	45292921	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	1206090	45292921	203957700	3	27206											
ZFYVE9	9372	hgsc.bcm.edu	37	1	52703736	52703736	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:52703736T>A	ENST00000371591.1	+	3	778	c.647T>A	c.(646-648)tTg>tAg	p.L216*	ZFYVE9_ENST00000287727.3_Nonsense_Mutation_p.L216*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.L216*	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	216					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATGGATCCATTGAATAGACCG	0.368																																																0													78	81	80					1																	52703736		2203	4300	6503	SO:0001587	stop_gained	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.647T>A	1.37:g.52703736T>A	ENSP00000360647:p.Leu216*		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Nonsense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.391661	0.62066	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	.	.	.	4.82	3.71	0.42584	.	0.410893	0.20183	N	0.097480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4025	0.16303	0.0:0.1694:0.0:0.8306	.	.	.	.	X	216	.	ENSP00000287727:L216X	L	+	2	0	ZFYVE9	52476324	0.372000	0.25064	0.760000	0.31359	0.740000	0.42216	1.294000	0.33365	2.146000	0.66826	0.533000	0.62120	TTG		0.368	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		A	52703736	T	A	52703736	4	1	504	1	0	0	0	0	0	1	0	0	17676	1821	63	5	653	5	ZFYVE9	1	52703736	Nonsense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	7410815	52703736	196546885	4	27207											
LHX8	431707	hgsc.bcm.edu;ucsc.edu	37	1	75608988	75608988	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:75608988G>A	ENST00000294638.5	+	6	1239	c.575G>A	c.(574-576)tGc>tAc	p.C192Y	LHX8_ENST00000356261.3_Missense_Mutation_p.C182Y	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	192	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CATTATGACTGCATGCTGGAT	0.363																																																0													63	64	63					1																	75608988		2203	4299	6502	SO:0001583	missense	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.575G>A	1.37:g.75608988G>A	ENSP00000294638:p.Cys192Tyr		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064349	0.55432	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86230	-2.09;-2.07	5.15	5.15	0.70609	Zinc finger, LIM-type (1);	0.043154	0.85682	D	0.000000	D	0.84297	0.5441	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	D	0.88713	0.3224	10	0.66056	D	0.02	.	19.0188	0.92905	0.0:0.0:1.0:0.0	.	192	Q68G74	LHX8_HUMAN	Y	192;182	ENSP00000294638:C192Y;ENSP00000348597:C182Y	ENSP00000294638:C192Y	C	+	2	0	LHX8	75381576	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.425000	0.66470	2.579000	0.87056	0.650000	0.86243	TGC		0.363	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		A	75608988	G	A	75608988	3	1	504	1	0	0	0	0	1	0	0	0	8778	1319	46	2	593	2	LHX8	1	75608988	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	22905252	75608988	173641633	5	27208											
ATP1A1	476	hgsc.bcm.edu	37	1	116943758	116943758	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:116943758G>T	ENST00000295598.5	+	20	2977	c.2725G>T	c.(2725-2727)Gag>Tag	p.E909*	ATP1A1_ENST00000369496.4_Nonsense_Mutation_p.E878*|ATP1A1_ENST00000537345.1_Nonsense_Mutation_p.E909*	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	909					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TCAGACCTATGAGCAGAGGAA	0.542																																																0													76	66	69					1																	116943758		2203	4300	6503	SO:0001587	stop_gained	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2725G>T	1.37:g.116943758G>T	ENSP00000295598:p.Glu909*		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Nonsense_Mutation	SNP	ENST00000295598.5	37	CCDS887.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.820054|11.820054	0.99606|0.99606	.|.	.|.	ENSG00000163399|ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951|ENST00000339159	.|.	.|.	.|.	5.1|5.1	4.16|4.16	0.48862|0.48862	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.48840	.|0.1522	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.36138	.|-0.9760	.|5	0.44086|0.24483	T|T	0.13|0.36	.|.	13.8306|13.8306	0.63377|0.63377	0.0764:0.0:0.9236:0.0|0.0764:0.0:0.9236:0.0	.|.	.|.	.|.	.|.	X|I	909;78;909;878;76|640	.|.	ENSP00000295598:E909X|ENSP00000342827:M640I	E|M	+|+	1|3	0|0	ATP1A1|ATP1A1	116745281|116745281	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	7.813000|7.813000	0.86123|0.86123	2.640000|2.640000	0.89533|0.89533	0.591000|0.591000	0.81541|0.81541	GAG|ATG		0.542	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		T	116943758	G	T	116943758	4	4	504	1	0	0	0	0	0	1	0	0	1128	1291	45	4	2819	4	ATP1A1	1	116943758	Nonsense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	41334770	116943758	132306863	6	27209											
FDPS	2224	hgsc.bcm.edu;ucsc.edu	37	1	155289628	155289628	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:155289628A>C	ENST00000356657.6	+	10	1130	c.968A>C	c.(967-969)aAa>aCa	p.K323T	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.K257T|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_5'Flank|FDPS_ENST00000368356.4_Missense_Mutation_p.K323T|RUSC1-AS1_ENST00000446880.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	323					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GTGACCGGCAAAATTGGCACT	0.567																																																0													112	111	112					1																	155289628		2203	4300	6503	SO:0001583	missense	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.968A>C	1.37:g.155289628A>C	ENSP00000349078:p.Lys323Thr		D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150492	0.78001	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	D;D;D	0.84589	-1.87;-1.87;-1.87	4.28	4.28	0.50868	Terpenoid synthase (2);	0.000000	0.46145	D	0.000302	D	0.93494	0.7924	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94681	0.7865	10	0.87932	D	0	-26.7042	11.7487	0.51837	1.0:0.0:0.0:0.0	.	323	P14324	FPPS_HUMAN	T	257;323;323	ENSP00000391755:K257T;ENSP00000357340:K323T;ENSP00000349078:K323T	ENSP00000349078:K323T	K	+	2	0	FDPS	153556252	1.000000	0.71417	0.996000	0.52242	0.586000	0.36452	8.781000	0.91805	2.159000	0.67721	0.459000	0.35465	AAA		0.567	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		C	155289628	A	C	155289628	3	2	504	1	0	0	0	0	1	0	0	0	5805	14	1	5	1002	5	FDPS	1	155289628	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	38345870	155289628	93960993	7	27210											
SSR2	6746	hgsc.bcm.edu	37	1	155979424	155979424	+	Silent	SNP	A	A	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:155979424A>G	ENST00000295702.4	-	6	530	c.459T>C	c.(457-459)ttT>ttC	p.F153F	SSR2_ENST00000480567.1_Silent_p.F153F|SSR2_ENST00000496742.1_Missense_Mutation_p.L84S|SSR2_ENST00000529008.1_Missense_Mutation_p.L91S	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	153					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCATGACCCCAAAGGCTGCCC	0.493																																																0													98	91	94					1																	155979424		2203	4300	6503	SO:0001819	synonymous_variant	6746			BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.459T>C	1.37:g.155979424A>G			B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Silent	SNP	ENST00000295702.4	37	CCDS1126.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109831	0.77096	.	.	ENSG00000163479	ENST00000529008;ENST00000496742	.	.	.	6.07	-7.31	0.01441	.	.	.	.	.	T	0.51024	0.1650	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66536	-0.5899	5	0.34782	T	0.22	-19.4507	15.6967	0.77506	0.8155:0.0:0.1845:0.0	.	.	.	.	S	91;84	.	ENSP00000436201:L84S	L	-	2	0	SSR2	154246048	0.989000	0.36119	0.721000	0.30653	0.993000	0.82548	0.202000	0.17295	-1.512000	0.01791	-0.290000	0.09829	TTG		0.493	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046172.2	NM_003145		G	155979424	A	G	155979424	2	3	504	1	0	0	0	0	0	0	0	1	15196	127	5	3		3	SSR2	1	155979424	Silent	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	689796	155979424	93271197	8	27211											
DUSP27	92235	hgsc.bcm.edu;ucsc.edu	37	1	167097707	167097707	+	Silent	SNP	A	A	T	rs138064659		TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:167097707A>T	ENST00000361200.2	+	6	3505	c.3339A>T	c.(3337-3339)gcA>gcT	p.A1113A	DUSP27_ENST00000443333.1_Silent_p.A1113A|DUSP27_ENST00000271385.5_Silent_p.A1113A|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1113					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGGTTTGCATCTGGACGGC	0.512																																																0													47	42	44					1																	167097707		2203	4300	6503	SO:0001819	synonymous_variant	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3339A>T	1.37:g.167097707A>T			A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																				0.512	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		T	167097707	A	T	167097707	2	4	504	1	0	0	0	0	0	0	0	1	4826	204	8	5		5	DUSP27	1	167097707	Silent	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	11118283	167097707	82152914	9	27212											
FAM20B	9917	hgsc.bcm.edu;ucsc.edu	37	1	179013267	179013267	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:179013267A>T	ENST00000263733.4	+	2	621	c.285A>T	c.(283-285)aaA>aaT	p.K95N		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	95						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CCACCAAGAAAATCATTAAAG	0.502																																																0													67	70	69					1																	179013267		2203	4300	6503	SO:0001583	missense	9917			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"glycosaminoglycan xylosylkinase"	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.285A>T	1.37:g.179013267A>T	ENSP00000263733:p.Lys95Asn		Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.489114	0.44249	.	.	ENSG00000116199	ENST00000440702;ENST00000263733	D	0.88354	-2.37	6.03	3.71	0.42584	.	0.110070	0.64402	D	0.000002	D	0.83133	0.5188	L	0.60455	1.87	0.39451	D	0.967407	B	0.33694	0.421	B	0.25291	0.059	T	0.80480	-0.1364	10	0.40728	T	0.16	-28.4245	7.9987	0.30284	0.7335:0.0:0.2665:0.0	.	95	O75063	XYLK_HUMAN	N	95	ENSP00000263733:K95N	ENSP00000263733:K95N	K	+	3	2	FAM20B	177279890	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.443000	0.21644	1.098000	0.41479	0.455000	0.32223	AAA		0.502	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		T	179013267	A	T	179013267	3	4	504	1	0	0	0	0	1	0	0	0	5540	11	1	5	287	5	FAM20B	1	179013267	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	11915560	179013267	70237354	10	27213											
PPP1R15B	84919	hgsc.bcm.edu;ucsc.edu	37	1	204379755	204379755	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:204379755T>C	ENST00000367188.4	-	1	1164	c.785A>G	c.(784-786)gAg>gGg	p.E262G	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	262					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ACAATGGTCCTCTCTCAGGCA	0.537																																																0													88	89	89					1																	204379755		2203	4300	6503	SO:0001583	missense	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.785A>G	1.37:g.204379755T>C	ENSP00000356156:p.Glu262Gly		Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684879	0.47991	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.26223	1.75	5.2	4.1	0.47936	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.507884	0.16623	N	0.206413	T	0.27900	0.0687	L	0.59436	1.845	0.09310	N	1	B	0.34181	0.44	B	0.38378	0.272	T	0.23404	-1.0189	10	0.72032	D	0.01	-10.2259	8.1964	0.31398	0.0:0.0:0.2692:0.7308	.	262	Q5SWA1	PR15B_HUMAN	G	262;172	ENSP00000356156:E262G	ENSP00000356156:E262G	E	-	2	0	PPP1R15B	202646378	0.001000	0.12720	0.060000	0.19600	0.018000	0.09664	0.725000	0.25970	1.951000	0.56629	0.533000	0.62120	GAG		0.537	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		C	204379755	T	C	204379755	3	2	504	1	0	0	0	0	1	0	0	0	12369	1551	54	3	1364	3	PPP1R15B	1	204379755	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	25366488	204379755	44870866	11	27214											
CNST	163882	hgsc.bcm.edu;ucsc.edu	37	1	246810937	246810938	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr1:246810937_246810938insA	ENST00000366513.4	+	9	1703_1704	c.1434_1435insA	c.(1435-1437)aatfs	p.N479fs	CNST_ENST00000366512.3_Frame_Shift_Ins_p.N479fs|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	479					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AACTTGAGAACAATGAATTAAA	0.485																																																0																																										SO:0001589	frameshift_variant	163882			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1436dupA	1.37:g.246810939_246810939dupA	ENSP00000355470:p.Asn479fs		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Frame_Shift_Ins	INS	ENST00000366513.4	37	CCDS1628.1																																																																																				0.485	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		A	246810938	-	A	246810937	7	5	504	1	0	1	1	0	0	0	0	0	3636	477	17	0	1464	0	CNST	1	246810937	Frame_Shift_Ins	INS	-	TCGA-CJ-4875-01A-01D-1373-10	42431182	246810937	2439684	12	27215											
C2orf16	84226	hgsc.bcm.edu;ucsc.edu	37	2	27801317	27801317	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr2:27801317T>G	ENST00000408964.2	+	1	1929	c.1878T>G	c.(1876-1878)atT>atG	p.I626M		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	626						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATCAGGAATTGAAGCAATAA	0.433																																																0													75	70	72					2																	27801317		1874	4111	5985	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1878T>G	2.37:g.27801317T>G	ENSP00000386190:p.Ile626Met		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345358	0.24426	.	.	ENSG00000221843	ENST00000408964	T	0.06371	3.31	4.42	1.92	0.25849	.	.	.	.	.	T	0.08133	0.0203	L	0.27053	0.805	0.09310	N	1	D	0.57571	0.98	P	0.53722	0.733	T	0.29243	-1.0018	9	0.72032	D	0.01	.	5.1333	0.14922	0.1812:0.0:0.1892:0.6296	.	626	Q68DN1	CB016_HUMAN	M	626	ENSP00000386190:I626M	ENSP00000386190:I626M	I	+	3	3	C2orf16	27654821	0.000000	0.05858	0.004000	0.12327	0.127000	0.20565	-0.024000	0.12435	0.279000	0.22186	0.459000	0.35465	ATT		0.433	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		G	27801317	T	G	27801317	3	3	504	1	0	0	0	0	1	0	0	0	2159	1800	63	5	1880	5	C2orf16	2	27801317	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10		27801317	215398056	13	27216											
SOS1	6654	hgsc.bcm.edu	37	2	39285899	39285899	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr2:39285899A>T	ENST00000426016.1	-	4	346	c.260T>A	c.(259-261)aTa>aAa	p.I87K	SOS1_ENST00000428721.2_Missense_Mutation_p.I30K|SOS1_ENST00000402219.2_Missense_Mutation_p.I87K|SOS1_ENST00000395038.2_Missense_Mutation_p.I87K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	87					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GGCATCAGCTATTGCCCATTT	0.338									Noonan syndrome																																							0													77	79	78					2																	39285899		2203	4300	6503	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.260T>A	2.37:g.39285899A>T	ENSP00000387784:p.Ile87Lys		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	A	32	5.111233	0.94339	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.75	5.75	0.90469	Histone-fold (2);	0.000000	0.85682	D	0.000000	D	0.92090	0.7493	M	0.79805	2.47	0.80722	D	1	P	0.51537	0.946	D	0.63703	0.917	D	0.93054	0.6468	10	0.87932	D	0	.	16.0707	0.80928	1.0:0.0:0.0:0.0	.	87	Q07889	SOS1_HUMAN	K	87;87;87;87;30;30	ENSP00000387784:I87K;ENSP00000384675:I87K;ENSP00000378479:I87K;ENSP00000399992:I30K;ENSP00000393899:I30K	ENSP00000263879:I87K	I	-	2	0	SOS1	39139403	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.210000	0.95106	2.194000	0.70268	0.533000	0.62120	ATA		0.338	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		T	39285899	A	T	39285899	3	4	504	1	0	0	0	0	1	0	0	0	14942	449	16	5	3825	5	SOS1	2	39285899	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	11484582	39285899	203913474	14	27217											
FAM136A	84908	hgsc.bcm.edu	37	2	70529055	70529055	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr2:70529055A>T	ENST00000037869.3	-	1	166		c.e1+1		FAM136A_ENST00000430566.1_Missense_Mutation_p.V30E|FAM136A_ENST00000450256.1_Splice_Site|AC022201.5_ENST00000445084.1_RNA	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CAGCCCCGCTACCTGCATCTT	0.682											OREG0014676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													56	48	51					2																	70529055		2203	4299	6502	SO:0001630	splice_region_variant	84908			BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"hypothetical protein FLJ14668"					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.87+1T>A	2.37:g.70529055A>T		1123	Q96SS3	Splice_Site	SNP	ENST00000037869.3	37	CCDS1904.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.93|13.93	2.385180|2.385180	0.42308|0.42308	.|.	.|.	ENSG00000035141|ENSG00000035141	ENST00000037869;ENST00000450256|ENST00000430566;ENST00000438759	.|.	.|.	.|.	3.96|3.96	3.96|3.96	0.45880|0.45880	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52581	.|0.1743	.|.	.|.	.|.	0.29047|0.29047	N|N	0.884726|0.884726	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53892	.|-0.8374	.|5	.|0.87932	.|D	.|0	.|.	11.0761|11.0761	0.48032|0.48032	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|E	-1|30;15	.|.	.|ENSP00000397269:V30E	.|V	-|-	.|2	.|0	FAM136A|FAM136A	70382559|70382559	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.438000|0.438000	0.31896|0.31896	6.024000|6.024000	0.70857|0.70857	1.789000|1.789000	0.52484|0.52484	0.164000|0.164000	0.16699|0.16699	.|GTA		0.682	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822	Intron	T	70529055	A	T	70529055	5	4	504	1	0	0	0	0	0	0	1	0	5452	405	14	5	339	5	FAM136A	2	70529055	Splice_Site	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	31243156	70529055	172670318	15	27218											
TTC21B	79809	hgsc.bcm.edu;ucsc.edu	37	2	166788344	166788344	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr2:166788344A>C	ENST00000243344.7	-	8	955	c.818T>G	c.(817-819)tTg>tGg	p.L273W	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	273					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGTATTTCCCAAGTTTTCCAG	0.378																																																0													138	125	129					2																	166788344		2203	4300	6503	SO:0001583	missense	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.818T>G	2.37:g.166788344A>C	ENSP00000243344:p.Leu273Trp		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.136640	0.56936	.	.	ENSG00000123607	ENST00000243344	T	0.52526	0.66	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.73651	0.3614	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.79759	-0.1668	10	0.87932	D	0	-7.5671	15.2362	0.73432	1.0:0.0:0.0:0.0	.	273;273	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	W	273	ENSP00000243344:L273W	ENSP00000243344:L273W	L	-	2	0	TTC21B	166496590	1.000000	0.71417	0.950000	0.38849	0.104000	0.19210	4.698000	0.61789	2.066000	0.61787	0.533000	0.62120	TTG		0.378	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		C	166788344	A	C	166788344	3	2	504	1	0	0	0	0	1	0	0	0	16693	131	5	5	3220	5	TTC21B	2	166788344	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	96259289	166788344	76411029	16	27219											
LRP2	4036	hgsc.bcm.edu;ucsc.edu	37	2	170115607	170115607	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr2:170115607G>T	ENST00000263816.3	-	17	2726	c.2441C>A	c.(2440-2442)gCt>gAt	p.A814D	LRP2_ENST00000443831.1_Missense_Mutation_p.A677D	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	814					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CGTTTTATCAGCTAGCCTCAT	0.408																																																0													157	154	155					2																	170115607		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2441C>A	2.37:g.170115607G>T	ENSP00000263816:p.Ala814Asp		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477353	0.26511	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94862	-3.28;-3.54	5.77	1.93	0.25924	Six-bladed beta-propeller, TolB-like (1);	0.100871	0.64402	D	0.000002	D	0.88555	0.6468	N	0.01874	-0.695	0.44366	D	0.997268	D;D	0.61080	0.989;0.985	D;P	0.71656	0.974;0.787	T	0.82581	-0.0386	10	0.10636	T	0.68	.	8.1097	0.30907	0.2281:0.1133:0.6586:0.0	.	677;814	E9PC35;P98164	.;LRP2_HUMAN	D	814;677	ENSP00000263816:A814D;ENSP00000409813:A677D	ENSP00000263816:A814D	A	-	2	0	LRP2	169823853	1.000000	0.71417	0.996000	0.52242	0.192000	0.23643	2.743000	0.47442	0.783000	0.33636	0.591000	0.81541	GCT		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170115607	G	T	170115607	3	4	504	1	0	0	0	0	1	0	0	0	8958	971	34	4	11778	4	LRP2	2	170115607	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	3327263	170115607	73083766	17	27220											
ITGAV	3685	hgsc.bcm.edu;ucsc.edu	37	2	187521116	187521116	+	Silent	SNP	A	A	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr2:187521116A>T	ENST00000261023.3	+	17	1981	c.1707A>T	c.(1705-1707)atA>atT	p.I569I	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Silent_p.I523I|ITGAV_ENST00000374907.3_Silent_p.I533I	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	569					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	AGGAATTGATAGCGTATCTGC	0.408																																					Melanoma(58;108 1995 6081)											0													291	266	274					2																	187521116		2203	4300	6503	SO:0001819	synonymous_variant	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1707A>T	2.37:g.187521116A>T			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	CCDS2292.1																																																																																				0.408	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		T	187521116	A	T	187521116	2	4	504	1	0	0	0	0	0	0	0	1	7890	410	15	5		5	ITGAV	2	187521116	Silent	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	17405509	187521116	55678257	18	27221											
GIGYF2	26058	hgsc.bcm.edu;ucsc.edu	37	2	233680350	233680350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr2:233680350G>A	ENST00000409547.1	+	21	2422	c.2111G>A	c.(2110-2112)tGg>tAg	p.W704*	GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.W726*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.W698*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.W726*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.W704*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.W725*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.W535*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	704	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTTACAGTTTGGGAAGGTGGT	0.493																																																0													223	189	201					2																	233680350		2203	4300	6503	SO:0001587	stop_gained	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2111G>A	2.37:g.233680350G>A	ENSP00000386537:p.Trp704*		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	37	6.582686	0.97680	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-8.0727	18.8987	0.92433	0.0:0.0:1.0:0.0	.	.	.	.	X	726;647;704;726;704;704;647;698;725;698;535	.	ENSP00000362664:W704X	W	+	2	0	GIGYF2	233388594	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	9.476000	0.97823	2.458000	0.83093	0.557000	0.71058	TGG		0.493	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		A	233680350	G	A	233680350	4	1	504	1	0	0	0	0	0	1	0	0	6380	1357	47	2	2247	2	GIGYF2	2	233680350	Nonsense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	46159234	233680350	9519023	19	27222											
ESPNL	339768	hgsc.bcm.edu	37	2	239033943	239033943	+	Silent	SNP	G	G	A	rs201765703	byFrequency	TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr2:239033943G>A	ENST00000343063.3	+	6	1283	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	ESPNL_ENST00000409506.1_5'Flank|ESPNL_ENST00000409169.1_Silent_p.P296P	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	340	Pro-rich.									endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CACCACCACCGTTCCCCCCAC	0.682													G|||	3	0.000599042	0.0	0.0014	5008	,	,		14517	0.0		0.001	False		,,,				2504	0.001															0								G		1,4365		0,1,2182	39	34	36		1020	-6.5	0	2		36	1,8565		0,1,4282	no	coding-synonymous	ESPNL	NM_194312.2		0,2,6464	AA,AG,GG		0.0117,0.0229,0.0155		340/1006	239033943	2,12930	2183	4283	6466	SO:0001819	synonymous_variant	339768			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1020G>A	2.37:g.239033943G>A			Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																				0.682	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		A	239033943	G	A	239033943	2	1	504	1	0	0	0	0	0	0	0	1	5257	1132	40	1		1	ESPNL	2	239033943	Silent	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	5353593	239033943	4165430	20	27223											
VHL	7428	hgsc.bcm.edu	37	3	10188235	10188236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr3:10188235_10188236insG	ENST00000256474.2	+	2	1218_1219	c.378_379insG	c.(379-381)gggfs	p.G127fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	127	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L128fs*31(2)|p.D126fs*4(2)|p.H125fs*27(1)|p.D126fs*5(1)|p.D126fs*32(1)|p.D126fs*33(1)|p.G127fs*5(1)|p.L128fs*4(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGACACACGATGGGCTTCTGGT	0.5		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Deletion - Frameshift(8)|Insertion - Frameshift(2)	kidney(10)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.381dupG	3.37:g.10188238_10188238dupG	ENSP00000256474:p.Gly127fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.5	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10188236	-	G	10188235	7	5	504	1	0	1	1	0	0	0	0	0	17167	1461	51	0	384	0	VHL	3	10188235	Frame_Shift_Ins	INS	-	TCGA-CJ-4875-01A-01D-1373-10		10188235	187834195	21	27224											
PBRM1	55193	hgsc.bcm.edu	37	3	52598178	52598179	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr3:52598178_52598179insA	ENST00000296302.7	-	23	3763_3764	c.3762_3763insT	c.(3760-3765)attctgfs	p.L1255fs	PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.L1230fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.L1230fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.L1223fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.L1270fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.L1255fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.L1270fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.L1255fs			Q86U86	PB1_HUMAN	polybromo 1	1255	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCACAAAGCAGAATGTCATTTT	0.396			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3763dupT	3.37:g.52598180_52598180dupA	ENSP00000296302:p.Leu1255fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																					0.396	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52598179	-	A	52598178	7	5	504	1	0	1	1	0	0	0	0	0	11493	933	33	0	1169	0	PBRM1	3	52598178	Frame_Shift_Ins	INS	-	TCGA-CJ-4875-01A-01D-1373-10	42409943	52598178	145424252	22	27225											
ZNF80	7634	hgsc.bcm.edu	37	3	113955638	113955638	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr3:113955638G>A	ENST00000482457.2	-	1	787	c.284C>T	c.(283-285)cCc>cTc	p.P95L	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	95				P -> H (in Ref. 1; CAA46340). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AATCCTCATGGGTCGAACGAA	0.542																																					GBM(23;986 1114 21716)											0													62	55	57					3																	113955638		2203	4300	6503	SO:0001583	missense	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.284C>T	3.37:g.113955638G>A	ENSP00000417192:p.Pro95Leu		Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068032	0.76301	.	.	ENSG00000174255	ENST00000482457	T	0.27720	1.65	2.99	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19406	0.0466	L	0.28192	0.835	0.26531	N	0.974257	B	0.02656	0.0	B	0.06405	0.002	T	0.23013	-1.0200	9	0.87932	D	0	.	4.5483	0.12092	0.0:0.1149:0.1975:0.6876	.	95	P51504	ZNF80_HUMAN	L	95	ENSP00000417192:P95L	ENSP00000309812:P95L	P	-	2	0	ZNF80	115438328	1.000000	0.71417	0.005000	0.12908	0.181000	0.23173	5.121000	0.64691	0.104000	0.17725	-0.976000	0.02587	CCC		0.542	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		A	113955638	G	A	113955638	3	1	504	1	0	0	0	0	1	0	0	0	18173	1232	43	2	541	2	ZNF80	3	113955638	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	61357460	113955638	84066792	23	27226											
MED12L	116931	hgsc.bcm.edu;ucsc.edu	37	3	150903129	150903129	+	Missense_Mutation	SNP	G	G	C	rs376895313		TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr3:150903129G>C	ENST00000474524.1	+	11	1545	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H	RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000309237.4_Missense_Mutation_p.D503H|MED12L_ENST00000422248.2_Missense_Mutation_p.D503H|MED12L_ENST00000273432.4_Missense_Mutation_p.D363H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	503						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCGCCCAACGATGAAGCTGT	0.527																																																0													119	98	106					3																	150903129		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1507G>C	3.37:g.150903129G>C	ENSP00000417235:p.Asp503His		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610825	0.66558	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.51	5.51	0.81932	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.89917	0.985;1.0;1.0;1.0	P;D;D;D	0.91635	0.899;0.999;0.999;0.999	T	0.77691	-0.2493	10	0.87932	D	0	-17.3017	19.0129	0.92881	0.0:0.0:1.0:0.0	.	363;503;503;503	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	H	503;503;503;363	ENSP00000403308:D503H;ENSP00000310760:D503H;ENSP00000417235:D503H;ENSP00000273432:D363H	ENSP00000273432:D363H	D	+	1	0	MED12L	152385819	1.000000	0.71417	0.906000	0.35671	0.125000	0.20455	8.874000	0.92363	2.589000	0.87451	0.591000	0.81541	GAT		0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		C	150903129	G	C	150903129	3	2	504	1	0	0	0	0	1	0	0	0	9431	1058	37	4	1549	4	MED12L	3	150903129	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	36947491	150903129	47119301	24	27227											
MCF2L2	23101	hgsc.bcm.edu	37	3	182923678	182923678	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr3:182923678T>C	ENST00000328913.3	-	25	3167	c.2870A>G	c.(2869-2871)cAa>cGa	p.Q957R	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.Q957R	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	957							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GATATTATTTTGTTGTTCCAT	0.378																																																0													80	83	82					3																	182923678		2202	4298	6500	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2870A>G	3.37:g.182923678T>C	ENSP00000328118:p.Gln957Arg		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	T	0.396	-0.920790	0.02396	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.09073	3.02;3.02	4.42	1.87	0.25490	Pleckstrin homology-type (1);	0.292616	0.28203	N	0.016216	T	0.07908	0.0198	L	0.60455	1.87	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.17410	-1.0370	10	0.56958	D	0.05	.	3.2315	0.06750	0.2049:0.1102:0.0:0.685	.	957	Q86YR7	MF2L2_HUMAN	R	957	ENSP00000328118:Q957R;ENSP00000420070:Q957R	ENSP00000328118:Q957R	Q	-	2	0	MCF2L2	184406372	0.901000	0.30685	0.972000	0.41901	0.149000	0.21700	0.746000	0.26275	0.852000	0.35287	0.460000	0.39030	CAA		0.378	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		C	182923678	T	C	182923678	3	2	504	1	0	0	0	0	1	0	0	0	9382	1812	63	3	498	3	MCF2L2	3	182923678	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	32020549	182923678	15098752	25	27228											
SRP72	6731	hgsc.bcm.edu;ucsc.edu	37	4	57366826	57366826	+	Silent	SNP	G	G	C	rs143643243	byFrequency	TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr4:57366826G>C	ENST00000342756.5	+	18	2524	c.1803G>C	c.(1801-1803)ggG>ggC	p.G601G	SRP72_ENST00000510663.1_Silent_p.G540G	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	601					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TTGGAAAAGGGACCCAGGGAG	0.453																																																0													51	50	50					4																	57366826		2203	4300	6503	SO:0001819	synonymous_variant	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1803G>C	4.37:g.57366826G>C			G5E9Z8|Q7Z3C0	Silent	SNP	ENST00000342756.5	37	CCDS3506.1																																																																																				0.453	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			C	57366826	G	C	57366826	2	2	504	1	0	0	0	0	0	0	0	1	15162	1161	41	4		4	SRP72	4	57366826	Silent	SNP	G	TCGA-CJ-4875-01A-01D-1373-10		57366826	133787450	26	27229											
G3BP2	9908	hgsc.bcm.edu;ucsc.edu	37	4	76579235	76579235	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr4:76579235T>C	ENST00000359707.4	-	8	1542	c.757A>G	c.(757-759)Aac>Gac	p.N253D	G3BP2_ENST00000395719.3_Missense_Mutation_p.N253D|G3BP2_ENST00000357854.3_Intron|G3BP2_ENST00000502654.1_5'Flank	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	253					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGAGGCAGGTTTTTACTGGTC	0.448																																																0													83	82	82					4																	76579235		2203	4300	6503	SO:0001583	missense	9908			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.757A>G	4.37:g.76579235T>C	ENSP00000352738:p.Asn253Asp		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166392	0.78339	.	.	ENSG00000138757	ENST00000395719;ENST00000359707	T;T	0.78126	-1.15;-1.15	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.85682	0.5753	M	0.70595	2.14	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.82232	-0.0559	10	0.09843	T	0.71	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	253	Q9UN86	G3BP2_HUMAN	D	253	ENSP00000379069:N253D;ENSP00000352738:N253D	ENSP00000352738:N253D	N	-	1	0	G3BP2	76798259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.281000	0.76405	0.528000	0.53228	AAC		0.448	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		C	76579235	T	C	76579235	3	2	504	1	0	0	0	0	1	0	0	0	6144	1841	64	3	711	3	G3BP2	4	76579235	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	19212409	76579235	114575041	27	27230											
ADH1A	124	hgsc.bcm.edu	37	4	100205662	100205662	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr4:100205662T>A	ENST00000209668.2	-	5	574	c.461A>T	c.(460-462)gAt>gTt	p.D154V	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'Flank	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	154					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TGCATTTTCATCCACCACTGT	0.517																																																0													91	87	88					4																	100205662		2203	4300	6503	SO:0001583	missense	124			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.461A>T	4.37:g.100205662T>A	ENSP00000209668:p.Asp154Val		A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	T	5.104	0.204763	0.09704	.	.	ENSG00000187758	ENST00000209668	T	0.05199	3.48	2.59	2.59	0.31030	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.525025	0.20493	N	0.091241	T	0.19005	0.0456	M	0.74389	2.26	0.41537	D	0.988491	D	0.60575	0.988	D	0.66084	0.941	T	0.00865	-1.1535	10	0.49607	T	0.09	-14.4789	8.4397	0.32808	0.0:0.0:0.2153:0.7847	.	154	P07327	ADH1A_HUMAN	V	154	ENSP00000209668:D154V	ENSP00000209668:D154V	D	-	2	0	ADH1A	100424685	0.000000	0.05858	0.969000	0.41365	0.077000	0.17291	0.127000	0.15790	1.174000	0.42811	0.377000	0.23210	GAT		0.517	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		A	100205662	T	A	100205662	3	1	504	1	0	0	0	0	1	0	0	0	307	1435	50	5	686	5	ADH1A	4	100205662	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	23626427	100205662	90948614	28	27231											
PPA2	27068	hgsc.bcm.edu;ucsc.edu	37	4	106370542	106370542	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr4:106370542C>T	ENST00000341695.5	-	4	316	c.286G>A	c.(286-288)Gta>Ata	p.V96I	PPA2_ENST00000432483.2_Intron|PPA2_ENST00000354147.3_Intron|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000310267.7_Missense_Mutation_p.V17I|PPA2_ENST00000357415.4_Missense_Mutation_p.V111I|PPA2_ENST00000380004.2_Intron|PPA2_ENST00000348706.5_Missense_Mutation_p.V96I	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	96					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		GGTATTTCTACAATCATATTA	0.284																																																0													45	47	46					4																	106370542		2202	4291	6493	SO:0001583	missense	27068				CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.286G>A	4.37:g.106370542C>T	ENSP00000343885:p.Val96Ile		B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	ENST00000341695.5	37	CCDS3667.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528257	0.85706	.	.	ENSG00000138777	ENST00000341695;ENST00000348706;ENST00000357415;ENST00000310267;ENST00000504028;ENST00000502596	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.65	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	L	0.42632	1.34	0.80722	D	1	P;D;D	0.64830	0.861;0.994;0.986	P;P;P	0.60345	0.626;0.873;0.81	T	0.53851	-0.8380	10	0.46703	T	0.11	-0.7667	16.4565	0.84019	0.0:0.8686:0.1314:0.0	.	17;96;96	B4DFH3;Q9H2U2-3;Q9H2U2	.;.;IPYR2_HUMAN	I	96;96;111;17;91;17	ENSP00000343885:V96I;ENSP00000313061:V96I;ENSP00000349996:V111I;ENSP00000311150:V17I;ENSP00000421177:V91I;ENSP00000426347:V17I	ENSP00000311150:V17I	V	-	1	0	PPA2	106589991	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.520000	0.81821	1.343000	0.45638	0.650000	0.86243	GTA		0.284	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250704.4	NM_176869		T	106370542	C	T	106370542	3	4	504	1	0	0	0	0	1	0	0	0	12289	478	17	2	754	2	PPA2	4	106370542	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	6164880	106370542	84783734	29	27232											
ANKRD50	57182	hgsc.bcm.edu;ucsc.edu	37	4	125590305	125590305	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr4:125590305A>T	ENST00000504087.1	-	4	5164	c.4127T>A	c.(4126-4128)cTt>cAt	p.L1376H	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L1197H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1376										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AACCCTACCAAGAAAAACCTG	0.418																																																0													208	171	184					4																	125590305		2203	4300	6503	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.4127T>A	4.37:g.125590305A>T	ENSP00000425658:p.Leu1376His		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101299	0.76983	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.71934	-0.61;-0.56	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	N	0.24115	0.695	0.51012	D	0.999902	D	0.67145	0.996	P	0.54372	0.75	T	0.71174	-0.4670	10	0.45353	T	0.12	.	15.5138	0.75806	1.0:0.0:0.0:0.0	.	1376	Q9ULJ7	ANR50_HUMAN	H	1376;1197	ENSP00000425658:L1376H;ENSP00000425355:L1197H	ENSP00000425658:L1376H	L	-	2	0	ANKRD50	125809755	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	8.541000	0.90644	2.250000	0.74265	0.454000	0.30748	CTT		0.418	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		T	125590305	A	T	125590305	3	4	504	1	0	0	0	0	1	0	0	0	677	72	3	5	166	5	ANKRD50	4	125590305	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	19219763	125590305	65563971	30	27233											
WDR17	116966	hgsc.bcm.edu	37	4	177094493	177094493	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr4:177094493A>T	ENST00000280190.4	+	27	3593	c.3437A>T	c.(3436-3438)gAa>gTa	p.E1146V	WDR17_ENST00000393643.2_Missense_Mutation_p.E1122V|WDR17_ENST00000508596.1_Missense_Mutation_p.E1107V|WDR17_ENST00000507824.2_Missense_Mutation_p.E1121V			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1146										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTCGTACTGAAAAATTACTC	0.338																																																0													87	82	83					4																	177094493		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3437A>T	4.37:g.177094493A>T	ENSP00000280190:p.Glu1146Val		E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.158437|4.158437	0.78114|0.78114	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.59083|.	0.32;0.35;0.29|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.123814|.	0.53938|.	D|.	0.000059|.	T|.	0.71634|.	0.3363|.	M|M	0.62723|0.62723	1.935|1.935	0.54753|0.54753	D|D	0.999983|0.999983	D;D;D|.	0.63880|.	0.987;0.987;0.993|.	P;P;P|.	0.54965|.	0.765;0.765;0.765|.	T|.	0.70757|.	-0.4785|.	10|.	0.72032|.	D|.	0.01|.	-25.8616|-25.8616	15.7271|15.7271	0.77770|0.77770	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1122;1107;1146|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	V|C	1107;1122;1146;1122|380	ENSP00000422763:E1107V;ENSP00000377258:E1122V;ENSP00000280190:E1146V|.	ENSP00000280190:E1146V|.	E|X	+|+	2|3	0|0	WDR17|WDR17	177331487|177331487	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.650000|0.650000	0.38633|0.38633	8.384000|8.384000	0.90160|0.90160	2.123000|2.123000	0.65237|0.65237	0.477000|0.477000	0.44152|0.44152	GAA|TGA		0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			T	177094493	A	T	177094493	3	4	504	1	0	0	0	0	1	0	0	0	17282	246	9	5	3539	5	WDR17	4	177094493	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	51504188	177094493	14059783	31	27234											
COL4A3BP	10087	hgsc.bcm.edu	37	5	74685443	74685443	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr5:74685443A>C	ENST00000405807.4	-	12	1679	c.1258T>G	c.(1258-1260)Ttg>Gtg	p.L420V	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.L548V|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.L394V	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	420	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TCTACAACCAACTGCCAATTG	0.413																																																0													126	116	120					5																	74685443		2203	4300	6503	SO:0001583	missense	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1258T>G	5.37:g.74685443A>C	ENSP00000383996:p.Leu420Val		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.887437	0.52014	.	.	ENSG00000113163	ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.80033	-1.33;-1.33;-1.33	5.14	1.06	0.20224	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	M	0.63843	1.955	0.49483	D	0.999794	P;P;P	0.49862	0.929;0.897;0.912	B;P;B	0.44623	0.385;0.455;0.334	T	0.75725	-0.3217	10	0.66056	D	0.02	-4.5168	10.4415	0.44469	0.3737:0.0:0.6263:0.0	.	420;548;394	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	V	25;420;548;394	ENSP00000383996:L420V;ENSP00000369862:L548V;ENSP00000261415:L394V	ENSP00000261415:L394V	L	-	1	2	COL4A3BP	74721199	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	2.378000	0.44309	-0.000000	0.14550	0.460000	0.39030	TTG		0.413	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		C	74685443	A	C	74685443	3	2	504	1	0	0	0	0	1	0	0	0	3694	40	2	5	640	5	COL4A3BP	5	74685443	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10		74685443	106229817	32	27235											
CMYA5	202333	hgsc.bcm.edu	37	5	79030663	79030663	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr5:79030663C>G	ENST00000446378.2	+	2	6106	c.6075C>G	c.(6073-6075)aaC>aaG	p.N2025K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2025					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAAGCAAACACAGAGCTTT	0.423																																																0													53	52	52					5																	79030663		1839	4091	5930	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6075C>G	5.37:g.79030663C>G	ENSP00000394770:p.Asn2025Lys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880536	0.17467	.	.	ENSG00000164309	ENST00000446378	T	0.41758	0.99	5.83	2.92	0.33932	.	0.992344	0.08165	N	0.987879	T	0.29458	0.0734	L	0.29908	0.895	0.09310	N	1	B	0.21381	0.055	B	0.12837	0.008	T	0.26189	-1.0110	10	0.41790	T	0.15	.	4.7681	0.13142	0.2122:0.6196:0.0:0.1682	.	2025	Q8N3K9	CMYA5_HUMAN	K	2025	ENSP00000394770:N2025K	ENSP00000394770:N2025K	N	+	3	2	CMYA5	79066419	0.000000	0.05858	0.007000	0.13788	0.574000	0.36063	0.211000	0.17474	0.273000	0.22049	0.555000	0.69702	AAC		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		G	79030663	C	G	79030663	3	3	504	1	0	0	0	0	1	0	0	0	3592	477	17	4	6081	4	CMYA5	5	79030663	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	4345220	79030663	101884597	33	27236											
GPR98	84059	hgsc.bcm.edu;ucsc.edu	37	5	89923473	89923473	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr5:89923473T>G	ENST00000405460.2	+	7	1214	c.1118T>G	c.(1117-1119)cTa>cGa	p.L373R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	373					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGCTGTGCTAATAAGCCCT	0.358																																																0													129	127	128					5																	89923473		1872	4105	5977	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1118T>G	5.37:g.89923473T>G	ENSP00000384582:p.Leu373Arg		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.778369	0.70107	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.34667	1.35	5.85	5.85	0.93711	.	0.066642	0.64402	D	0.000010	T	0.65565	0.2703	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.72067	-0.4402	10	0.72032	D	0.01	.	16.2365	0.82377	0.0:0.0:0.0:1.0	.	373	Q8WXG9	GPR98_HUMAN	R	373	ENSP00000384582:L373R	ENSP00000296619:L373R	L	+	2	0	GPR98	89959229	1.000000	0.71417	0.913000	0.36048	0.492000	0.33523	7.806000	0.86020	2.238000	0.73509	0.477000	0.44152	CTA		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	89923473	T	G	89923473	3	3	504	1	0	0	0	0	1	0	0	0	6723	1522	53	5	1144	5	GPR98	5	89923473	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	10892810	89923473	90991787	34	27237											
SNCAIP	9627	hgsc.bcm.edu	37	5	121758633	121758633	+	Silent	SNP	T	T	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr5:121758633T>C	ENST00000261368.8	+	4	463	c.201T>C	c.(199-201)gcT>gcC	p.A67A	SNCAIP_ENST00000261367.7_Silent_p.A114A|SNCAIP_ENST00000379536.2_Silent_p.A67A|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Silent_p.A114A|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000503116.2_Silent_p.A114A|SNCAIP_ENST00000504884.2_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	67					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGGAATCGCTGATGTGTACA	0.418																																																0													63	65	64					5																	121758633		2203	4300	6503	SO:0001819	synonymous_variant	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.201T>C	5.37:g.121758633T>C			D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	CCDS4131.1																																																																																				0.418	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			C	121758633	T	C	121758633	2	2	504	1	0	0	0	0	0	0	0	1	14847	1567	55	3		3	SNCAIP	5	121758633	Silent	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	31835160	121758633	59156627	35	27238											
ZNF187	0	hgsc.bcm.edu	37	6	28239931	28239932	+	IGR	INS	-	-	T	rs61622742		TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr6:28239931_28239932insT								NKAPL (11195 upstream) : PGBD1 (9381 downstream)																							TCTGTCAACAGTGCTACAGCCC	0.564																																																0																																										SO:0001628	intergenic_variant	0																															6.37:g.28239932_28239932dupT				Frame_Shift_Ins	INS		37																																																																																				0	0.564									T	28239932	-	T	28239931	6	5	504	0	1	1	1	0	0	0	0	0	17758	1020	36	0		0	ZNF187	6	28239931	IGR	INS	-	TCGA-CJ-4875-01A-01D-1373-10		28239931	142875136	36	27239											
RPL7L1	285855	hgsc.bcm.edu	37	6	42853798	42853798	+	Missense_Mutation	SNP	A	A	G	rs368319057		TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr6:42853798A>G	ENST00000493763.1	+	5	812	c.509A>G	c.(508-510)aAt>aGt	p.N170S	RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000304734.5_Missense_Mutation_p.N170S|RPL7L1_ENST00000602561.1_Missense_Mutation_p.N170S|RPL7L1_ENST00000424341.2_Intron	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	170						ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			CTGACAGACAATACAGTGATT	0.453																																																0								A	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	54	55	54		509	5.9	1	6		54	0,8600		0,0,4300	no	missense	RPL7L1	NM_198486.2	46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging	170/247	42853798	1,13005	2203	4300	6503	SO:0001583	missense	285855				CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"L ribosomal proteins"	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.509A>G	6.37:g.42853798A>G	ENSP00000418221:p.Asn170Ser		A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Missense_Mutation	SNP	ENST00000493763.1	37	CCDS4873.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052526	0.75960	2.27E-4	0.0	ENSG00000146223	ENST00000493763;ENST00000304734	.	.	.	5.87	5.87	0.94306	Ribosomal protein L30, ferredoxin-like fold domain (1);	0.000000	0.85682	D	0.000000	T	0.60183	0.2249	M	0.94021	3.485	0.80722	D	1	P	0.38617	0.64	B	0.29716	0.106	T	0.73764	-0.3880	9	0.87932	D	0	.	14.5226	0.67863	1.0:0.0:0.0:0.0	.	170	Q6DKI1	RL7L_HUMAN	S	170	.	ENSP00000346063:N170S	N	+	2	0	RPL7L1	42961776	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.801000	0.91905	2.371000	0.80710	0.533000	0.62120	AAT		0.453	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314417.1	XM_209769		G	42853798	A	G	42853798	3	3	504	1	0	0	0	0	1	0	0	0	13607	101	4	3	527	3	RPL7L1	6	42853798	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	14613867	42853798	128261269	37	27240											
POLR1C	9533	hgsc.bcm.edu	37	6	43488991	43488991	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr6:43488991A>C	ENST00000372389.3	+	9	1082	c.994A>C	c.(994-996)Aag>Cag	p.K332Q	POLR1C_ENST00000372344.2_Missense_Mutation_p.K282Q|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_Intron	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	332					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ACTGATGGGGAAGTGCCGGCG	0.527																																																0													112	109	110					6																	43488991		2203	4300	6503	SO:0001583	missense	9533			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.994A>C	6.37:g.43488991A>C	ENSP00000361465:p.Lys332Gln		O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	CCDS4901.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.688307	0.88639	.	.	ENSG00000171453	ENST00000372389;ENST00000372373;ENST00000372344	D;D	0.85629	-2.01;-2.01	5.09	5.09	0.68999	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.048704	0.85682	D	0.000000	D	0.94295	0.8167	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96158	0.9113	10	0.87932	D	0	-18.1446	14.8517	0.70300	1.0:0.0:0.0:0.0	.	332	O15160	RPAC1_HUMAN	Q	332;196;282	ENSP00000361465:K332Q;ENSP00000361419:K282Q	ENSP00000361419:K282Q	K	+	1	0	POLR1C	43596969	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.799000	0.91895	1.912000	0.55364	0.477000	0.44152	AAG		0.527	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		C	43488991	A	C	43488991	3	2	504	1	0	0	0	0	1	0	0	0	12213	247	9	5	1028	5	POLR1C	6	43488991	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	635193	43488991	127626076	38	27241											
COL19A1	1310	hgsc.bcm.edu	37	6	70639451	70639451	+	Silent	SNP	C	C	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr6:70639451C>A	ENST00000322773.4	+	6	627	c.525C>A	c.(523-525)ggC>ggA	p.G175G		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	175	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACAAACTTGGCATTAGTATAC	0.403																																																0													125	118	121					6																	70639451		2203	4300	6503	SO:0001819	synonymous_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.525C>A	6.37:g.70639451C>A			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	CCDS4970.1																																																																																				0.403	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			A	70639451	C	A	70639451	2	1	504	1	0	0	0	0	0	0	0	1	3678	697	25	4		4	COL19A1	6	70639451	Silent	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	27150460	70639451	100475616	39	27242											
MDN1	23195	hgsc.bcm.edu;ucsc.edu	37	6	90499925	90499925	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr6:90499925G>T	ENST00000369393.3	-	6	1166	c.1051C>A	c.(1051-1053)Cct>Act	p.P351T	MDN1_ENST00000428876.1_Missense_Mutation_p.P351T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	351					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCTGAGGAGGCTTTGTTCTA	0.423																																																0													151	156	154					6																	90499925		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1051C>A	6.37:g.90499925G>T	ENSP00000358400:p.Pro351Thr		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396668	0.25205	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.53423	0.62;0.62;0.62	5.21	3.39	0.38822	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.186041	0.47852	D	0.000208	T	0.24160	0.0585	L	0.49126	1.545	0.40276	D	0.978344	B;B	0.24132	0.098;0.08	B;B	0.26310	0.068;0.065	T	0.04495	-1.0947	10	0.16420	T	0.52	.	11.8427	0.52364	0.1298:0.0:0.8702:0.0	.	351;351	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	T	351	ENSP00000358400:P351T;ENSP00000413970:P351T;ENSP00000409664:P351T	ENSP00000358400:P351T	P	-	1	0	MDN1	90556646	0.989000	0.36119	0.998000	0.56505	0.947000	0.59692	2.012000	0.40932	2.426000	0.82243	0.655000	0.94253	CCT		0.423	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			T	90499925	G	T	90499925	3	4	504	1	0	0	0	0	1	0	0	0	9417	1203	42	4	16127	4	MDN1	6	90499925	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	19860474	90499925	80615142	40	27243											
C6orf204	387119	hgsc.bcm.edu	37	6	118801654	118801654	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr6:118801654A>G	ENST00000368491.3	-	9	2389	c.1768T>C	c.(1768-1770)Tgc>Cgc	p.C590R	CEP85L_ENST00000368488.5_Missense_Mutation_p.C593R	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	590						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TCTTCAAGGCATCTTTCTACT	0.323																																																0													172	155	160					6																	118801654		1835	4078	5913	SO:0001583	missense	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1768T>C	6.37:g.118801654A>G	ENSP00000357477:p.Cys590Arg		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809382	0.70797	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.09445	2.98;2.98	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00920	-1.1514	10	0.34782	T	0.22	-7.2703	15.1844	0.72989	1.0:0.0:0.0:0.0	.	590	Q5SZL2	CF204_HUMAN	R	590;593	ENSP00000357477:C590R;ENSP00000357474:C593R	ENSP00000357474:C593R	C	-	1	0	C6orf204	118908347	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.864000	0.75494	2.231000	0.72958	0.533000	0.62120	TGC		0.323	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		G	118801654	A	G	118801654	3	3	504	1	0	0	0	0	1	0	0	0	2355	217	8	3	669	3	C6orf204	6	118801654	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	28301729	118801654	52313413	41	27244											
AKAP12	9590	hgsc.bcm.edu	37	6	151626918	151626918	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr6:151626918G>A	ENST00000253332.1	+	2	388	c.199G>A	c.(199-201)Ggc>Agc	p.G67S	AKAP12_ENST00000402676.2_Missense_Mutation_p.G67S			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	67					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CACCATCAATGGCGTAGCTGA	0.498																																					Melanoma(141;1616 1805 10049 24534 51979)											0													71	65	67					6																	151626918		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.199G>A	6.37:g.151626918G>A	ENSP00000253332:p.Gly67Ser		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186711	0.78789	.	.	ENSG00000131016	ENST00000402676;ENST00000253332	T;T	0.12569	2.67;2.67	4.57	3.7	0.42460	.	0.163773	0.29451	N	0.012103	T	0.07007	0.0178	L	0.50333	1.59	0.35807	D	0.82357	P	0.46859	0.885	P	0.46026	0.501	T	0.26916	-1.0089	10	0.23891	T	0.37	.	8.9342	0.35688	0.1049:0.0:0.8951:0.0	.	67	Q02952	AKA12_HUMAN	S	67	ENSP00000384537:G67S;ENSP00000253332:G67S	ENSP00000253332:G67S	G	+	1	0	AKAP12	151668611	0.849000	0.29639	0.398000	0.26321	0.474000	0.32979	1.901000	0.39838	1.065000	0.40693	0.561000	0.74099	GGC		0.498	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			A	151626918	G	A	151626918	3	1	504	1	0	0	0	0	1	0	0	0	448	1348	47	2	205	2	AKAP12	6	151626918	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	32825264	151626918	19488149	42	27245											
RBM16	22828	hgsc.bcm.edu	37	6	155145481	155145481	+	Silent	SNP	A	A	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr6:155145481A>G	ENST00000367178.3	+	17	2616	c.2040A>G	c.(2038-2040)agA>agG	p.R680R	RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000417268.1_Silent_p.R680R|SCAF8_ENST00000367186.4_Silent_p.R746R	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	680	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTTTTTTAAGAGCAAGTTTTA	0.413																																																0													173	172	172					6																	155145481		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2040A>G	6.37:g.155145481A>G			B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	CCDS5247.1																																																																																				0.413	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		G	155145481	A	G	155145481	2	3	504	1	0	0	0	0	0	0	0	1	13124	301	11	3		3	RBM16	6	155145481	Silent	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	3518563	155145481	15969586	43	27246											
MIOS	54468	hgsc.bcm.edu;ucsc.edu	37	7	7612146	7612146	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr7:7612146C>G	ENST00000340080.4	+	4	461	c.40C>G	c.(40-42)Cat>Gat	p.H14D	MIOS_ENST00000405785.1_Missense_Mutation_p.H14D	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	14						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGCACCACACCATGTTGATAG	0.373																																																0													104	92	96					7																	7612146		1879	4107	5986	SO:0001583	missense	54468				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"WD repeat-containing protein mio"	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.40C>G	7.37:g.7612146C>G	ENSP00000339881:p.His14Asp		B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.202853	0.58234	.	.	ENSG00000164654	ENST00000340080;ENST00000405785;ENST00000433635;ENST00000456533;ENST00000433056;ENST00000445169	T;T	0.42513	0.97;0.97	5.85	5.85	0.93711	.	0.168742	0.53938	D	0.000050	T	0.55832	0.1945	L	0.50333	1.59	0.47905	D	0.999546	P	0.52692	0.955	P	0.56343	0.796	T	0.38265	-0.9669	10	0.32370	T	0.25	-3.4921	20.5471	0.99284	0.0:1.0:0.0:0.0	.	14	Q9NXC5	MIO_HUMAN	D	14	ENSP00000339881:H14D;ENSP00000384088:H14D	ENSP00000339881:H14D	H	+	1	0	MIOS	7578671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.382000	0.79729	2.941000	0.99782	0.655000	0.94253	CAT		0.373	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		G	7612146	C	G	7612146	3	3	504	1	0	0	0	0	1	0	0	0	9591	594	21	4	42	4	MIOS	7	7612146	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10		7612146	151526517	44	27247											
NPC1L1	29881	hgsc.bcm.edu	37	7	44579792	44579792	+	Silent	SNP	A	A	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr7:44579792A>C	ENST00000289547.4	-	2	259	c.204T>G	c.(202-204)ggT>ggG	p.G68G	NPC1L1_ENST00000423141.1_Silent_p.G68G|NPC1L1_ENST00000546276.1_Silent_p.G68G|NPC1L1_ENST00000381160.3_Silent_p.G68G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	68					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCAGGTGATCACCTGTGATCT	0.577																																																0													63	63	63					7																	44579792		2203	4300	6503	SO:0001819	synonymous_variant	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.204T>G	7.37:g.44579792A>C			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	CCDS5491.1																																																																																				0.577	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		C	44579792	A	C	44579792	2	2	504	1	0	0	0	0	0	0	0	1	10573	146	6	5		5	NPC1L1	7	44579792	Silent	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	36967646	44579792	114558871	45	27248											
SRPK2	6733	hgsc.bcm.edu	37	7	104783695	104783695	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr7:104783695T>C	ENST00000393651.3	-	10	983	c.896A>G	c.(895-897)cAg>cGg	p.Q299R	SRPK2_ENST00000357311.3_Missense_Mutation_p.Q288R|SRPK2_ENST00000489828.1_Missense_Mutation_p.Q288R	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TTCTATCTCCTGCAGGCGCTT	0.403																																																0													95	89	91					7																	104783695		2203	4300	6503	SO:0001583	missense	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.896A>G	7.37:g.104783695T>C	ENSP00000377262:p.Gln299Arg			Missense_Mutation	SNP	ENST00000393651.3	37	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230794	0.58777	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.21734	1.99;1.99;1.99	5.68	5.68	0.88126	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147331	0.47093	D	0.000242	T	0.18087	0.0434	L	0.41124	1.26	0.41806	D	0.989944	P;B	0.41265	0.744;0.396	B;B	0.35114	0.196;0.067	T	0.03306	-1.1050	10	0.28530	T	0.3	-18.3957	15.9347	0.79694	0.0:0.0:0.0:1.0	.	299;288	P78362-2;P78362	.;SRPK2_HUMAN	R	299;288;288	ENSP00000377262:Q299R;ENSP00000349863:Q288R;ENSP00000419791:Q288R	ENSP00000349863:Q288R	Q	-	2	0	SRPK2	104570931	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.366000	0.59492	2.167000	0.68274	0.454000	0.30748	CAG		0.403	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		C	104783695	T	C	104783695	3	2	504	1	0	0	0	0	1	0	0	0	15165	1580	55	3	1231	3	SRPK2	7	104783695	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	60203903	104783695	54354968	46	27249											
OPN1SW	611	hgsc.bcm.edu;ucsc.edu	37	7	128415817	128415817	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr7:128415817A>G	ENST00000249389.2	-	1	27	c.28T>C	c.(28-30)Tat>Cat	p.Y10H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	10					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TTGAACAGATAAAACTCTTCC	0.527																																																0													45	49	48					7																	128415817		2203	4300	6503	SO:0001583	missense	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.28T>C	7.37:g.128415817A>G	ENSP00000249389:p.Tyr10His		Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	A	8.102	0.776860	0.16120	.	.	ENSG00000128617	ENST00000249389	T	0.37915	1.17	4.94	2.55	0.30701	.	0.771864	0.12337	N	0.477834	T	0.49133	0.1539	M	0.76574	2.34	0.38349	D	0.944271	D	0.56521	0.976	P	0.54238	0.746	T	0.50381	-0.8835	10	0.59425	D	0.04	.	7.7924	0.29127	0.8249:0.0:0.1751:0.0	.	10	P03999	OPSB_HUMAN	H	10	ENSP00000249389:Y10H	ENSP00000249389:Y10H	Y	-	1	0	OPN1SW	128203053	0.993000	0.37304	0.552000	0.28243	0.192000	0.23643	1.941000	0.40233	0.373000	0.24621	0.459000	0.35465	TAT		0.527	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		G	128415817	A	G	128415817	3	3	504	1	0	0	0	0	1	0	0	0	10882	362	13	3	1038	3	OPN1SW	7	128415817	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	23632122	128415817	30722846	47	27250											
VPS13B	157680	hgsc.bcm.edu;ucsc.edu	37	8	100514007	100514007	+	Silent	SNP	T	T	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr8:100514007T>G	ENST00000358544.2	+	26	4074	c.3963T>G	c.(3961-3963)cgT>cgG	p.R1321R	VPS13B_ENST00000357162.2_Silent_p.R1321R|VPS13B_ENST00000395996.1_Silent_p.R1321R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1321					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCAGTGGACGTGTTAGTTTAT	0.423																																					Colon(161;2205 2542 7338 31318)											0													170	167	168					8																	100514007		2203	4300	6503	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3963T>G	8.37:g.100514007T>G			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		G	100514007	T	G	100514007	2	3	504	1	0	0	0	0	0	0	0	1	17195	1683	59	5		5	VPS13B	8	100514007	Silent	SNP	T	TCGA-CJ-4875-01A-01D-1373-10		100514007	45850015	48	27251											
TMEM74	157753	hgsc.bcm.edu;ucsc.edu	37	8	109796776	109796776	+	Silent	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr8:109796776G>A	ENST00000297459.3	-	2	730	c.552C>T	c.(550-552)ttC>ttT	p.F184F	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	184					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CAGTGACCAAGAACAAGATGG	0.517																																																0													109	99	102					8																	109796776		2203	4300	6503	SO:0001819	synonymous_variant	157753			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.552C>T	8.37:g.109796776G>A				Silent	SNP	ENST00000297459.3	37	CCDS6310.1																																																																																				0.517	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		A	109796776	G	A	109796776	2	1	504	1	0	0	0	0	0	0	0	1	16207	933	33	2		2	TMEM74	8	109796776	Silent	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	9282769	109796776	36567246	49	27252											
SMU1	55234	hgsc.bcm.edu	37	9	33073680	33073680	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr9:33073680T>C	ENST00000397149.3	-	2	201	c.151A>G	c.(151-153)Att>Gtt	p.I51V	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	51	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CCACTGTTAATGTCAGCCACA	0.468																																																0													143	122	129					9																	33073680		2203	4300	6503	SO:0001583	missense	55234			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.151A>G	9.37:g.33073680T>C	ENSP00000380336:p.Ile51Val		B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	37	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681391	0.47991	.	.	ENSG00000122692	ENST00000397149	T	0.45668	0.89	5.35	5.35	0.76521	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.39633	1.23	0.80722	D	1	B;B	0.28470	0.213;0.213	B;B	0.31442	0.13;0.13	T	0.12451	-1.0547	10	0.21540	T	0.41	-0.5175	13.5871	0.61937	0.0:0.0:0.0:1.0	.	51;51	A0MNN4;Q2TAY7	.;SMU1_HUMAN	V	51	ENSP00000380336:I51V	ENSP00000380336:I51V	I	-	1	0	SMU1	33063680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.103000	0.71492	2.151000	0.67156	0.460000	0.39030	ATT		0.468	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		C	33073680	T	C	33073680	3	2	504	1	0	0	0	0	1	0	0	0	14823	1464	51	3	1434	3	SMU1	9	33073680	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10		33073680	108139751	50	27253											
C9orf91	203197	hgsc.bcm.edu	37	9	117396073	117396073	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr9:117396073T>A	ENST00000288502.4	+	6	937	c.500T>A	c.(499-501)cTg>cAg	p.L167Q	C9orf91_ENST00000374049.4_Missense_Mutation_p.L168Q			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	167						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GACCTGAGGCTGGCAGCTGCC	0.592																																																0													85	74	78					9																	117396073		2203	4300	6503	SO:0001583	missense	203197			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.500T>A	9.37:g.117396073T>A	ENSP00000288502:p.Leu167Gln		A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	ENST00000288502.4	37	CCDS6808.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413213	0.83449	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	5.83	5.83	0.93111	.	0.074783	0.53938	D	0.000045	T	0.71247	0.3317	L	0.59436	1.845	0.44539	D	0.997494	D;D	0.76494	0.999;0.999	D;D	0.74023	0.974;0.982	T	0.74097	-0.3775	9	0.87932	D	0	-33.6906	12.5943	0.56459	0.0:0.0:0.0:1.0	.	146;167	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	Q	168;167	.	ENSP00000288502:L167Q	L	+	2	0	C9orf91	116435894	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	4.328000	0.59253	2.231000	0.72958	0.459000	0.35465	CTG		0.592	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		A	117396073	T	A	117396073	3	1	504	1	0	0	0	0	1	0	0	0	2507	1580	55	5	518	5	C9orf91	9	117396073	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	84322393	117396073	23817358	51	27254											
ENTPD8	377841	hgsc.bcm.edu	37	9	140330189	140330189	+	Silent	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr9:140330189G>A	ENST00000472938.1	-	7	1159	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	ENTPD8_ENST00000371506.2_Silent_p.C381C|ENTPD8_ENST00000344119.2_Intron			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	381					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		AGGGCCTCTGGCAAAACTCCC	0.627																																																0													80	87	85					9																	140330189		1987	4176	6163	SO:0001819	synonymous_variant	377841			AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.1143C>T	9.37:g.140330189G>A			A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	CCDS43913.1																																																																																				0.627	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		A	140330189	G	A	140330189	2	1	504	1	0	0	0	0	0	0	0	1	5147	1195	42	2		2	ENTPD8	9	140330189	Silent	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	22934116	140330189	883242	52	27255											
PRKCQ	5588	hgsc.bcm.edu;ucsc.edu	37	10	6525533	6525533	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr10:6525533A>C	ENST00000263125.5	-	11	1147	c.1048T>G	c.(1048-1050)Ttg>Gtg	p.L350V	PRKCQ_ENST00000539722.1_Missense_Mutation_p.L225V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.L350V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	350					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ACCTCATCCAACGGAGACTCC	0.413																																					Ovarian(50;572 1126 10530 25349 30594)											0													95	93	94					10																	6525533		2203	4300	6503	SO:0001583	missense	5588			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1048T>G	10.37:g.6525533A>C	ENSP00000263125:p.Leu350Val		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	.	6.623	0.483436	0.12581	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.68181	-0.31;-0.24;-0.31	5.24	-5.67	0.02444	.	1.070280	0.07145	N	0.848082	T	0.29389	0.0732	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.15492	-1.0435	10	0.15952	T	0.53	.	1.7974	0.03064	0.1494:0.3047:0.3187:0.2273	.	225;122;350;350	B4DF52;Q5JUN8;Q04759-2;Q04759	.;.;.;KPCT_HUMAN	V	350;350;225	ENSP00000263125:L350V;ENSP00000380361:L350V;ENSP00000441752:L225V	ENSP00000263125:L350V	L	-	1	2	PRKCQ	6565539	0.002000	0.14202	0.040000	0.18447	0.106000	0.19336	0.156000	0.16382	-0.580000	0.05944	-0.340000	0.08031	TTG		0.413	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		C	6525533	A	C	6525533	3	2	504	1	0	0	0	0	1	0	0	0	12520	40	2	5	1104	5	PRKCQ	10	6525533	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10		6525533	129009214	53	27256											
A1CF	29974	hgsc.bcm.edu;ucsc.edu	37	10	52569667	52569667	+	Silent	SNP	A	A	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr10:52569667A>T	ENST00000373993.1	-	10	1664	c.1620T>A	c.(1618-1620)gcT>gcA	p.A540A	A1CF_ENST00000373995.3_Silent_p.A540A|A1CF_ENST00000395495.1_Silent_p.A485A|A1CF_ENST00000373997.3_Silent_p.A532A|A1CF_ENST00000282641.2_Silent_p.A540A|A1CF_ENST00000493415.1_5'Flank|A1CF_ENST00000374001.2_Silent_p.A532A|A1CF_ENST00000395489.2_Silent_p.A533A|ASAH2B_ENST00000483649.1_Intron			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	540					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAAagcagtagcagcagcag	0.512																																																0													93	85	88					10																	52569667		2203	4300	6503	SO:0001819	synonymous_variant	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1620T>A	10.37:g.52569667A>T			A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	CCDS7242.1																																																																																				0.512	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		T	52569667	A	T	52569667	2	4	504	1	0	0	0	0	0	0	0	1	2	407	15	5		5	A1CF	10	52569667	Silent	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	46044134	52569667	82965080	54	27257											
HK1	3098	hgsc.bcm.edu;ucsc.edu	37	10	71139760	71139760	+	Missense_Mutation	SNP	G	G	A	rs140290094		TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr10:71139760G>A	ENST00000359426.6	+	9	1278	c.1174G>A	c.(1174-1176)Gcc>Acc	p.A392T	HK1_ENST00000404387.2_Missense_Mutation_p.A396T|HK1_ENST00000298649.3_Missense_Mutation_p.A391T|HK1_ENST00000360289.2_Missense_Mutation_p.A380T|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000448642.2_Missense_Mutation_p.A427T	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	392	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CACACTGGGCGCCATCTTGAA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19588	0.0		0.0	False		,,,				2504	0.001															0								G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	153	119	131		1174,1171,1186,1186,1138	4.5	1	10	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	HK1	NM_000188.2,NM_033496.2,NM_033497.2,NM_033498.2,NM_033500.2	58,58,58,58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	392/918,391/917,396/922,396/922,380/906	71139760	2,13004	2203	4300	6503	SO:0001583	missense	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1174G>A	10.37:g.71139760G>A	ENSP00000352398:p.Ala392Thr		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077434	0.55753	0.0	2.33E-4	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.39	4.48	0.54585	Hexokinase, C-terminal (1);	0.207799	0.49305	D	0.000154	T	0.44540	0.1298	M	0.79805	2.47	0.52099	D	0.999945	D;D;P;P;P;P	0.71674	0.998;0.998;0.699;0.559;0.504;0.73	P;D;B;B;B;B	0.64144	0.896;0.922;0.22;0.166;0.147;0.036	T	0.41610	-0.9499	10	0.36615	T	0.2	-22.2732	13.2724	0.60167	0.077:0.0:0.923:0.0	.	392;392;391;427;396;380	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	T	380;427;396;391;392;392	ENSP00000353433:A380T;ENSP00000402103:A427T;ENSP00000384774:A396T;ENSP00000298649:A391T;ENSP00000352398:A392T	ENSP00000298649:A391T	A	+	1	0	HK1	70809766	1.000000	0.71417	0.977000	0.42913	0.412000	0.31113	7.975000	0.88055	1.269000	0.44280	0.462000	0.41574	GCC		0.582	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		A	71139760	G	A	71139760	3	1	504	1	0	0	0	0	1	0	0	0	7192	1087	38	1	1386	1	HK1	10	71139760	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	18570093	71139760	64394987	55	27258											
HK1	3098	hgsc.bcm.edu;ucsc.edu	37	10	71144134	71144134	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr10:71144134G>A	ENST00000359426.6	+	11	1720	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	HK1_ENST00000404387.2_Missense_Mutation_p.R543H|HK1_ENST00000298649.3_Missense_Mutation_p.R538H|HK1_ENST00000360289.2_Missense_Mutation_p.R527H|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000448642.2_Missense_Mutation_p.R574H	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	539	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ACCAATTTCCGTGTGCTGCTG	0.468																																																0													177	169	171					10																	71144134		2203	4300	6503	SO:0001583	missense	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1616G>A	10.37:g.71144134G>A	ENSP00000352398:p.Arg539His		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	36	5.743288	0.96873	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.99724	-6.54;-6.54;-6.54;-6.54;-6.54	5.77	5.77	0.91146	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.961;1.0;1.0;1.0;0.999;1.0	D	0.96890	0.9652	10	0.87932	D	0	-16.4244	19.5653	0.95390	0.0:0.0:1.0:0.0	.	539;539;538;574;543;527	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	H	527;574;543;538;539;539	ENSP00000353433:R527H;ENSP00000402103:R574H;ENSP00000384774:R543H;ENSP00000298649:R538H;ENSP00000352398:R539H	ENSP00000298649:R538H	R	+	2	0	HK1	70814140	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	7.863000	0.87023	2.729000	0.93468	0.650000	0.86243	CGT		0.468	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		A	71144134	G	A	71144134	3	1	504	1	0	0	0	0	1	0	0	0	7192	1145	40	1	1836	1	HK1	10	71144134	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	4374	71144134	64390613	56	27259											
DLG5	9231	hgsc.bcm.edu;ucsc.edu	37	10	79556277	79556277	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr10:79556277G>T	ENST00000372391.2	-	28	5245	c.5240C>A	c.(5239-5241)cCt>cAt	p.P1747H	DLG5_ENST00000372388.2_Missense_Mutation_p.P1407H|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1747	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTCCAGCAAAGGCCCCAGAAT	0.607																																																0													114	95	101					10																	79556277		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5240C>A	10.37:g.79556277G>T	ENSP00000361467:p.Pro1747His		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926113	0.92319	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.17854	2.25;2.25;2.25	5.86	5.86	0.93980	Guanylate kinase/L-type calcium channel (1);	0.000000	0.38605	N	0.001621	T	0.52306	0.1726	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58493	-0.7627	10	0.87932	D	0	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	1747;1407	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	H	1747;708;1407	ENSP00000361467:P1747H;ENSP00000394797:P708H;ENSP00000361464:P1407H	ENSP00000361464:P1407H	P	-	2	0	DLG5	79226283	1.000000	0.71417	0.945000	0.38365	0.923000	0.55619	9.476000	0.97823	2.775000	0.95449	0.655000	0.94253	CCT		0.607	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			T	79556277	G	T	79556277	3	4	504	1	0	0	0	0	1	0	0	0	4560	1000	35	4	539	4	DLG5	10	79556277	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	8412143	79556277	55978470	57	27260											
ABLIM1	3983	hgsc.bcm.edu;ucsc.edu	37	10	116227940	116227940	+	Splice_Site	SNP	T	T	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr10:116227940T>G	ENST00000277895.5	-	11	1408	c.1311A>C	c.(1309-1311)gaA>gaC	p.E437D	ABLIM1_ENST00000369266.3_Splice_Site_p.E149D|ABLIM1_ENST00000369253.2_Splice_Site_p.E95D|ABLIM1_ENST00000533213.2_Splice_Site_p.E377D|ABLIM1_ENST00000369252.4_Splice_Site_p.E377D|ABLIM1_ENST00000392952.3_Splice_Site_p.E149D	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	437					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGGTACTTACTTCTGCTGATG	0.343																																																0													86	90	89					10																	116227940		2203	4300	6503	SO:0001630	splice_region_variant	3983			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1311+1A>C	10.37:g.116227940T>G			A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.44|16.44	3.124446|3.124446	0.56613|0.56613	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253;ENST00000440467;ENST00000428430|ENST00000392955	T;T;T;T;T;T|.	0.70516|.	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49|.	5.62|5.62	0.743|0.743	0.18347|0.18347	.|.	0.226230|.	0.45126|.	D|.	0.000397|.	T|T	0.49389|0.49389	0.1554|0.1554	M|M	0.62723|0.62723	1.935|1.935	0.30020|0.30020	N|N	0.814446|0.814446	B;D;P;P;P;P;B;P;P|.	0.55605|.	0.397;0.972;0.855;0.864;0.803;0.859;0.142;0.944;0.812|.	B;P;P;P;P;P;B;P;P|.	0.52267|.	0.155;0.621;0.615;0.515;0.468;0.535;0.046;0.621;0.694|.	T|T	0.50346|0.50346	-0.8839|-0.8839	9|5	.|.	.|.	.|.	.|.	8.3578|8.3578	0.32340|0.32340	0.0:0.2978:0.0:0.7022|0.0:0.2978:0.0:0.7022	.|.	361;121;377;405;437;149;405;361;95|.	B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4|.	.;.;.;.;ABLM1_HUMAN;.;.;.;.|.	D|T	437;377;149;95;405;377;465;361;149;361;361;465;149;102;121|346	ENSP00000358256:E377D;ENSP00000376679:E149D;ENSP00000433629:E377D;ENSP00000358270:E149D;ENSP00000414154:E102D;ENSP00000400934:E121D|.	.|.	E|K	-|-	3|2	2|0	ABLIM1|ABLIM1	116217930|116217930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.251000|1.251000	0.32862|0.32862	0.093000|0.093000	0.17368|0.17368	0.529000|0.529000	0.55759|0.55759	GAA|AAG		0.343	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		Missense_Mutation	G	116227940	T	G	116227940	5	3	504	1	0	0	0	0	0	0	1	0	94	1623	56	5	1073	5	ABLIM1	10	116227940	Splice_Site	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	36671663	116227940	19306807	58	27261											
ZNF195	7748	hgsc.bcm.edu;ucsc.edu	37	11	3380733	3380733	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr11:3380733A>G	ENST00000399602.4	-	6	1631	c.1505T>C	c.(1504-1506)aTc>aCc	p.I502T	ZNF195_ENST00000354599.6_Missense_Mutation_p.I430T|ZNF195_ENST00000429541.2_Missense_Mutation_p.I434T|ZNF195_ENST00000526601.1_Missense_Mutation_p.I483T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Missense_Mutation_p.I479T|ZNF195_ENST00000343338.7_Missense_Mutation_p.I434T	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTGCTTAAAGATGTTGCCACA	0.418																																																0													172	173	173					11																	3380733		2050	4216	6266	SO:0001583	missense	7748				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1505T>C	11.37:g.3380733A>G	ENSP00000382511:p.Ile502Thr		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	a	13.81	2.348131	0.41599	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.34859	1.34;2.48;1.34;1.34;2.48;2.48	1.27	-1.37	0.09056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18087	0.0434	N	0.00246	-1.78	0.09310	N	1	B;B;D;B;D;B	0.54772	0.393;0.004;0.96;0.003;0.968;0.003	P;B;D;B;D;B	0.67900	0.677;0.002;0.923;0.001;0.954;0.001	T	0.16808	-1.0390	9	0.52906	T	0.07	.	5.0646	0.14576	0.5813:0.0:0.4187:0.0	.	483;361;479;434;502;430	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	T	430;502;434;434;479;483	ENSP00000346613:I430T;ENSP00000382511:I502T;ENSP00000344483:I434T;ENSP00000387998:I434T;ENSP00000005082:I479T;ENSP00000435828:I483T	ENSP00000005082:I479T	I	-	2	0	ZNF195	3337309	0.000000	0.05858	0.000000	0.03702	0.944000	0.59088	-1.156000	0.03160	-0.276000	0.09206	0.254000	0.18369	ATC		0.418	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			G	3380733	A	G	3380733	3	3	504	1	0	0	0	0	1	0	0	0	17763	333	12	3	388	3	ZNF195	11	3380733	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10		3380733	131625783	59	27262											
ILK	3611	hgsc.bcm.edu;ucsc.edu	37	11	6631379	6631379	+	Splice_Site	SNP	C	C	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr11:6631379C>A	ENST00000396751.2	+	11	1535	c.1079C>A	c.(1078-1080)gCt>gAt	p.A360D	RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000299421.4_Splice_Site_p.A360D|ILK_ENST00000526711.1_3'UTR|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000420936.2_Splice_Site_p.A360D|ILK_ENST00000528995.1_Splice_Site_p.A299D|ILK_ENST00000537806.1_Splice_Site_p.A226D	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		ATCTCTCCAGCTCTGCAGAAG	0.537																																																0													85	87	87					11																	6631379		2201	4296	6497	SO:0001630	splice_region_variant	3611			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.1079-1C>A	11.37:g.6631379C>A			B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	CCDS7768.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527916	0.64860	.	.	ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000528995;ENST00000396751	D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53	5.1	5.1	0.69264	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96294	0.8791	H	0.95437	3.67	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.81914	0.995;0.995	D	0.97120	0.9810	9	.	.	.	.	18.0496	0.89343	0.0:1.0:0.0:0.0	.	299;360	B7Z418;Q13418	.;ILK_HUMAN	D	360;226;360;299;360	ENSP00000299421:A360D;ENSP00000439606:A226D;ENSP00000403487:A360D;ENSP00000435323:A299D;ENSP00000379975:A360D	.	A	+	2	0	ILK	6587955	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	6.977000	0.76141	2.811000	0.96726	0.557000	0.71058	GCT		0.537	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517	Missense_Mutation	A	6631379	C	A	6631379	5	1	504	1	0	0	0	0	0	0	1	0	7715	811	28	4	1121	4	ILK	11	6631379	Splice_Site	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	3250646	6631379	128375137	60	27263											
MS4A15	219995	hgsc.bcm.edu	37	11	60531258	60531258	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr11:60531258A>C	ENST00000405633.3	+	2	131	c.52A>C	c.(52-54)Aac>Cac	p.N18H	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Missense_Mutation_p.N18H	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	18						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CCCGCCAAACAACGCCAGTGG	0.572																																																0													103	102	102					11																	60531258		2047	4191	6238	SO:0001583	missense	219995			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.52A>C	11.37:g.60531258A>C	ENSP00000386022:p.Asn18His		A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343342	0.24339	.	.	ENSG00000166961	ENST00000528170;ENST00000405633	T;T	0.18960	2.18;2.88	5.21	4.07	0.47477	.	.	.	.	.	T	0.30665	0.0772	L	0.29908	0.895	0.09310	N	0.999992	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.994	T	0.07868	-1.0750	9	0.41790	T	0.15	-18.3491	7.8754	0.29590	0.9042:0.0:0.0958:0.0	.	18;18	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	H	18	ENSP00000434165:N18H;ENSP00000386022:N18H	ENSP00000386022:N18H	N	+	1	0	MS4A15	60287834	0.982000	0.34865	0.256000	0.24389	0.009000	0.06853	1.997000	0.40786	0.797000	0.33971	0.379000	0.24179	AAC		0.572	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			C	60531258	A	C	60531258	3	2	504	1	0	0	0	0	1	0	0	0	9861	130	5	5	54	5	MS4A15	11	60531258	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	53899879	60531258	74475258	61	27264											
SPTBN2	6712	hgsc.bcm.edu	37	11	66466957	66466957	+	Silent	SNP	C	C	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr11:66466957C>T	ENST00000533211.1	-	18	4027	c.3696G>A	c.(3694-3696)ctG>ctA	p.L1232L	SPTBN2_ENST00000309996.2_Silent_p.L1232L|SPTBN2_ENST00000529997.1_Silent_p.L1232L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1232					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCCAGCCTCCAGGAGCCCGT	0.562																																																0													93	89	90					11																	66466957		2200	4295	6495	SO:0001819	synonymous_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3696G>A	11.37:g.66466957C>T			O14872|O14873	Silent	SNP	ENST00000533211.1	37	CCDS8150.1																																																																																				0.562	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		T	66466957	C	T	66466957	2	4	504	1	0	0	0	0	0	0	0	1	15125	581	21	2		2	SPTBN2	11	66466957	Silent	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	5935699	66466957	68539559	62	27265											
SPTBN2	6712	hgsc.bcm.edu;ucsc.edu	37	11	66483325	66483325	+	Silent	SNP	G	G	A	rs34117933	byFrequency	TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr11:66483325G>A	ENST00000533211.1	-	4	616	c.285C>T	c.(283-285)ctC>ctT	p.L95L	SPTBN2_ENST00000309996.2_Silent_p.L95L|SPTBN2_ENST00000529997.1_Silent_p.L95L|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	95	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGAGCACCTCGAGGAGCCTCA	0.627													G|||	54	0.0107827	0.0393	0.0029	5008	,	,		16670	0.0		0.0	False		,,,				2504	0.0															0								G		131,4269	93.9+/-132.6	5,121,2074	57	52	53		285	-1.9	1	11	dbSNP_126	53	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SPTBN2	NM_006946.2		5,122,6368	AA,AG,GG		0.0116,2.9773,1.0162		95/2391	66483325	132,12858	2200	4295	6495	SO:0001819	synonymous_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.285C>T	11.37:g.66483325G>A			O14872|O14873	Silent	SNP	ENST00000533211.1	37	CCDS8150.1																																																																																				0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		A	66483325	G	A	66483325	2	1	504	1	0	0	0	0	0	0	0	1	15125	1045	37	1		1	SPTBN2	11	66483325	Silent	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	16368	66483325	68523191	63	27266											
FGF19	9965	hgsc.bcm.edu	37	11	69514321	69514321	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr11:69514321A>T	ENST00000294312.3	-	3	1125	c.360T>A	c.(358-360)tgT>tgA	p.C120*		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	120					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CCTCGAAAGCACAGTCTTCCT	0.572																																																0													46	42	43					11																	69514321		2200	4294	6494	SO:0001587	stop_gained	9965			AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.360T>A	11.37:g.69514321A>T	ENSP00000294312:p.Cys120*			Nonsense_Mutation	SNP	ENST00000294312.3	37	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	A	43	10.154619	0.99349	.	.	ENSG00000162344	ENST00000294312	.	.	.	4.9	-0.0942	0.13646	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.254	10.7262	0.46070	0.5503:0.0:0.4497:0.0	.	.	.	.	X	120	.	ENSP00000294312:C120X	C	-	3	2	FGF19	69223502	0.014000	0.17966	0.985000	0.45067	0.964000	0.63967	-1.834000	0.01693	-0.015000	0.14150	0.454000	0.30748	TGT		0.572	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117		T	69514321	A	T	69514321	4	4	504	1	0	0	0	0	0	1	0	0	5849	157	6	5	294	5	FGF19	11	69514321	Nonsense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	3030996	69514321	65492195	64	27267											
GRAMD1B	57476	hgsc.bcm.edu	37	11	123477481	123477481	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr11:123477481T>A	ENST00000529750.1	+	10	1386	c.1059T>A	c.(1057-1059)agT>agA	p.S353R	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.S353R|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.S360R|GRAMD1B_ENST00000450171.2_5'Flank	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	353						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CTGAGCTCAGTGACTCTTCCG	0.498																																																0													65	66	65					11																	123477481		2001	4162	6163	SO:0001583	missense	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1059T>A	11.37:g.123477481T>A	ENSP00000436500:p.Ser353Arg		Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.720281	0.68959	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.60920	1.19;1.19;1.17;1.22;0.15	5.25	-2.75	0.05914	.	0.000000	0.85682	D	0.000000	T	0.68595	0.3018	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.999;1.0;0.996;0.999	T	0.70795	-0.4775	10	0.62326	D	0.03	.	14.1745	0.65532	0.0:0.6522:0.0:0.3478	.	313;360;353;360	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	R	360;360;353;353;313;349	ENSP00000402457:S360R;ENSP00000325628:S353R;ENSP00000436500:S353R;ENSP00000432987:S313R;ENSP00000434214:S349R	ENSP00000325628:S353R	S	+	3	2	GRAMD1B	122982691	0.047000	0.20315	0.996000	0.52242	0.760000	0.43138	-0.751000	0.04803	-0.257000	0.09459	-0.464000	0.05259	AGT		0.498	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		A	123477481	T	A	123477481	3	1	504	1	0	0	0	0	1	0	0	0	6750	1693	59	5	1097	5	GRAMD1B	11	123477481	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	53963160	123477481	11529035	65	27268											
OR8B8	26493	hgsc.bcm.edu	37	11	124310505	124310505	+	Silent	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr11:124310505G>A	ENST00000328064.2	-	1	549	c.477C>T	c.(475-477)caC>caT	p.H159H		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	159					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)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGCACGCTGTGTGGGCCATGG	0.522																																																0													126	109	115					11																	124310505		2201	4299	6500	SO:0001819	synonymous_variant	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.477C>T	11.37:g.124310505G>A			A1L446|Q96RC8	Silent	SNP	ENST00000328064.2	37	CCDS8446.1																																																																																				0.522	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		A	124310505	G	A	124310505	2	1	504	1	0	0	0	0	0	0	0	1	11232	1368	48	2		2	OR8B8	11	124310505	Silent	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	833024	124310505	10696011	66	27269											
DDX25	29118	hgsc.bcm.edu;ucsc.edu	37	11	125791252	125791252	+	Silent	SNP	C	C	A	rs201491873		TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr11:125791252C>A	ENST00000263576.6	+	11	1523	c.1368C>A	c.(1366-1368)ctC>ctA	p.L456L	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	456	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TGCCCTCGCTCATGAAAATCC	0.522																																																0													48	47	47					11																	125791252		1953	4152	6105	SO:0001819	synonymous_variant	29118			AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1368C>A	11.37:g.125791252C>A			B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	CCDS44766.1																																																																																				0.522	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		A	125791252	C	A	125791252	2	1	504	1	0	0	0	0	0	0	0	1	4354	813	29	4		4	DDX25	11	125791252	Silent	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	1480747	125791252	9215264	67	27270											
GLB1L3	112937	hgsc.bcm.edu	37	11	134147736	134147736	+	Silent	SNP	C	C	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr11:134147736C>A	ENST00000431683.2	+	3	292	c.292C>A	c.(292-294)Cgg>Agg	p.R98R	GLB1L3_ENST00000389887.5_Silent_p.R98R	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	98					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCACTATTTCCGGGTGCCCAG	0.592																																																0													43	48	46					11																	134147736		2200	4297	6497	SO:0001819	synonymous_variant	112937				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.292C>A	11.37:g.134147736C>A			A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	CCDS44780.1																																																																																				0.592	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		A	134147736	C	A	134147736	2	1	504	1	0	0	0	0	0	0	0	1	6432	643	23	4		4	GLB1L3	11	134147736	Silent	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	8356484	134147736	858780	68	27271											
TSPAN9	10867	hgsc.bcm.edu;ucsc.edu	37	12	3388212	3388212	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr12:3388212T>A	ENST00000011898.5	+	5	471	c.310T>A	c.(310-312)Ttc>Atc	p.F104I	TSPAN9_ENST00000407263.1_Missense_Mutation_p.F104I|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.F104I	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	104						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			ACTCATCCTCTTCTTTGTCTA	0.537																																																0													203	160	175					12																	3388212		2203	4300	6503	SO:0001583	missense	10867			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.310T>A	12.37:g.3388212T>A	ENSP00000011898:p.Phe104Ile		D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.893972	0.91889	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.78126	-1.15;-1.15;-1.15	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	L	0.47078	1.49	0.80722	D	1	P	0.44429	0.835	P	0.49477	0.612	T	0.76602	-0.2899	9	.	.	.	.	13.1487	0.59478	0.0:0.0:0.0:1.0	.	104	O75954	TSN9_HUMAN	I	104	ENSP00000444799:F104I;ENSP00000011898:F104I;ENSP00000384488:F104I	.	F	+	1	0	TSPAN9	3258473	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.990000	0.88215	1.997000	0.58415	0.379000	0.24179	TTC		0.537	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		A	3388212	T	A	3388212	3	1	504	1	0	0	0	0	1	0	0	0	16659	1609	56	5	320	5	TSPAN9	12	3388212	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10		3388212	130463683	69	27272											
SCN8A	6334	hgsc.bcm.edu	37	12	52162982	52162982	+	Missense_Mutation	SNP	A	A	G	rs538883540		TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr12:52162982A>G	ENST00000354534.6	+	17	3413	c.3235A>G	c.(3235-3237)Att>Gtt	p.I1079V	SCN8A_ENST00000545061.1_Missense_Mutation_p.I1079V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1079					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GAAGTACATCATTGATGAGGA	0.527													A|||	1	0.000199681	0.0	0.0	5008	,	,		21948	0.0		0.001	False		,,,				2504	0.0															0													85	83	84					12																	52162982		2203	4299	6502	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3235A>G	12.37:g.52162982A>G	ENSP00000346534:p.Ile1079Val		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	9.261	1.043306	0.19748	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.83591	-1.74;-1.74;-1.74	5.09	5.09	0.68999	Sodium ion transport-associated (1);	0.136685	0.52532	D	0.000074	T	0.77061	0.4075	L	0.41124	1.26	0.58432	D	0.999997	B;B	0.24823	0.068;0.112	B;B	0.25140	0.051;0.058	T	0.72523	-0.4267	10	0.26408	T	0.33	.	15.3346	0.74241	1.0:0.0:0.0:0.0	.	1079;1079	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	V	1079;1079;1079;992	ENSP00000346534:I1079V;ENSP00000440360:I1079V;ENSP00000347255:I1079V	ENSP00000346534:I1079V	I	+	1	0	SCN8A	50449249	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.385000	0.79763	2.272000	0.75746	0.460000	0.39030	ATT		0.527	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		G	52162982	A	G	52162982	3	3	504	1	0	0	0	0	1	0	0	0	13930	217	8	3	3297	3	SCN8A	12	52162982	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	48774770	52162982	81688913	70	27273											
ITGA5	3678	hgsc.bcm.edu	37	12	54792404	54792404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr12:54792404G>A	ENST00000293379.4	-	28	3181	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	974					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGGGGCAGCTGCCGAGGCAGG	0.587																																																0													82	72	75					12																	54792404		2203	4300	6503	SO:0001587	stop_gained	3678				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2920C>T	12.37:g.54792404G>A	ENSP00000293379:p.Gln974*		Q96HA5	Nonsense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549621	0.86127	.	.	ENSG00000161638	ENST00000293379	.	.	.	5.27	4.35	0.52113	.	0.545245	0.19466	N	0.113578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	12.4979	0.55940	0.0:0.3225:0.6775:0.0	.	.	.	.	X	974	.	ENSP00000293379:Q974X	Q	-	1	0	ITGA5	53078671	0.660000	0.27420	1.000000	0.80357	0.955000	0.61496	0.554000	0.23407	1.323000	0.45263	0.655000	0.94253	CAG		0.587	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			A	54792404	G	A	54792404	4	1	504	1	0	0	0	0	0	1	0	0	7881	1328	46	2	241	2	ITGA5	12	54792404	Nonsense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	2629422	54792404	79059491	71	27274											
SYCP3	50511	hgsc.bcm.edu;ucsc.edu	37	12	102125403	102125403	+	Silent	SNP	T	T	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr12:102125403T>C	ENST00000392927.3	-	7	626	c.495A>G	c.(493-495)agA>agG	p.R165R	SYCP3_ENST00000392924.1_Silent_p.R165R|SYCP3_ENST00000266743.2_Silent_p.R165R	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	165	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCTGAACAATTCTAGATTGTT	0.264																																																0													62	61	61					12																	102125403		2202	4278	6480	SO:0001819	synonymous_variant	50511			AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.495A>G	12.37:g.102125403T>C				Silent	SNP	ENST00000392927.3	37	CCDS9087.1																																																																																				0.264	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		C	102125403	T	C	102125403	2	2	504	1	0	0	0	0	0	0	0	1	15439	1780	62	3		3	SYCP3	12	102125403	Silent	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	47332999	102125403	31726492	72	27275											
KIAA0564	23078	hgsc.bcm.edu;ucsc.edu	37	13	42461384	42461384	+	Silent	SNP	G	G	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr13:42461384G>T	ENST00000379310.3	-	6	833	c.765C>A	c.(763-765)ccC>ccA	p.P255P	VWA8_ENST00000281496.6_Silent_p.P255P	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	255						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AACGAAGAGGGGGGTCTAATG	0.383																																																0													58	62	61					13																	42461384		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.765C>A	13.37:g.42461384G>T			O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	CCDS41881.1																																																																																				0.383	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		T	42461384	G	T	42461384	2	4	504	1	0	0	0	0	0	0	0	1	8187	1219	43	4		4	KIAA0564	13	42461384	Silent	SNP	G	TCGA-CJ-4875-01A-01D-1373-10		42461384	72708494	73	27276											
ENOX1	55068	hgsc.bcm.edu;ucsc.edu	37	13	43934148	43934148	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr13:43934148G>T	ENST00000261488.6	-	7	1005	c.428C>A	c.(427-429)aCc>aAc	p.T143N	ENOX1_ENST00000540032.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.T143N|ENOX1_ENST00000482207.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	143	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GACAAACACGGTCTTACACCC	0.393																																																0													76	72	74					13																	43934148		2203	4300	6503	SO:0001583	missense	55068			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.428C>A	13.37:g.43934148G>T	ENSP00000261488:p.Thr143Asn		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661320	0.88154	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.76839	-1.05;-1.05	5.89	5.89	0.94794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.90266	0.6956	M	0.87456	2.885	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.90924	0.4785	10	0.87932	D	0	-5.0936	20.248	0.98401	0.0:0.0:1.0:0.0	.	143	Q8TC92	ENOX1_HUMAN	N	143	ENSP00000261488:T143N;ENSP00000415054:T143N	ENSP00000261488:T143N	T	-	2	0	ENOX1	42832148	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	9.414000	0.97362	2.790000	0.95986	0.655000	0.94253	ACC		0.393	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		T	43934148	G	T	43934148	3	4	504	1	0	0	0	0	1	0	0	0	5128	1261	44	4	1547	4	ENOX1	13	43934148	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	1472764	43934148	71235730	74	27277											
CLN5	1203	hgsc.bcm.edu;ucsc.edu	37	13	77574785	77574785	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr13:77574785A>C	ENST00000377453.3	+	4	2197	c.905A>C	c.(904-906)gAa>gCa	p.E302A	FBXL3_ENST00000477982.1_5'Flank	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	253					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AAGAACATAGAAACCAACTAT	0.388																																																0													113	116	115					13																	77574785		2203	4300	6503	SO:0001583	missense	1203				CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.905A>C	13.37:g.77574785A>C	ENSP00000366673:p.Glu302Ala		B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296270	0.40594	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.87966	-2.32	5.95	5.95	0.96441	.	0.143201	0.64402	D	0.000005	D	0.85788	0.5778	M	0.63428	1.95	0.80722	D	1	P	0.47910	0.902	B	0.40864	0.342	D	0.85445	0.1157	10	0.34782	T	0.22	-28.3409	16.4323	0.83853	1.0:0.0:0.0:0.0	.	253	O75503	CLN5_HUMAN	A	302;253;168	ENSP00000366673:E302A	ENSP00000366673:E302A	E	+	2	0	CLN5	76472786	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.383000	0.52471	2.281000	0.76405	0.528000	0.53228	GAA		0.388	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		C	77574785	A	C	77574785	3	2	504	1	0	0	0	0	1	0	0	0	3546	246	9	5	919	5	CLN5	13	77574785	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	33640637	77574785	37595093	75	27278											
C14orf115	55237	hgsc.bcm.edu	37	14	74825562	74825562	+	Silent	SNP	C	C	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr14:74825562C>G	ENST00000256362.4	+	2	2317	c.2076C>G	c.(2074-2076)gcC>gcG	p.A692A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	692					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGAAGCGAGCCCTCTATGACG	0.577																																																0													51	49	50					14																	74825562		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.2076C>G	14.37:g.74825562C>G			Q9NVC7	Silent	SNP	ENST00000256362.4	37	CCDS9830.1																																																																																				0.577	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		G	74825562	C	G	74825562	2	3	504	1	0	0	0	0	0	0	0	1	1742	610	22	4		4	C14orf115	14	74825562	Silent	SNP	C	TCGA-CJ-4875-01A-01D-1373-10		74825562	32523978	76	27279											
MGA	23269	hgsc.bcm.edu;ucsc.edu	37	15	41988561	41988561	+	Silent	SNP	A	A	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr15:41988561A>G	ENST00000570161.1	+	2	1353	c.1353A>G	c.(1351-1353)tcA>tcG	p.S451S	MGA_ENST00000566586.1_Silent_p.S451S|MGA_ENST00000389936.4_Silent_p.S451S|MGA_ENST00000545763.1_Silent_p.S451S|MGA_ENST00000219905.7_Silent_p.S451S|MGA_ENST00000568630.1_3'UTR			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAGCCCATCAGGTGTTGCTA	0.423																																																0													70	66	67					15																	41988561		1863	4100	5963	SO:0001819	synonymous_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1353A>G	15.37:g.41988561A>G			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	CCDS55959.1																																																																																				0.423	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		G	41988561	A	G	41988561	2	3	504	1	0	0	0	0	0	0	0	1	9542	175	7	3		3	MGA	15	41988561	Silent	SNP	A	TCGA-CJ-4875-01A-01D-1373-10		41988561	60542831	77	27280											
GANC	2595	hgsc.bcm.edu;ucsc.edu	37	15	42585003	42585003	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr15:42585003A>C	ENST00000318010.8	+	5	640	c.400A>C	c.(400-402)Atc>Ctc	p.I134L	GANC_ENST00000566442.1_Missense_Mutation_p.I134L	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	134					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GAAGTGCCATATCACAGCAAA	0.428																																																0													187	161	170					15																	42585003		2203	4299	6502	SO:0001583	missense	2595			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.400A>C	15.37:g.42585003A>C	ENSP00000326227:p.Ile134Leu		Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	A	0.946	-0.707992	0.03230	.	.	ENSG00000214013	ENST00000318010	D	0.87103	-2.21	5.18	-1.41	0.08941	Glycoside hydrolase-type carbohydrate-binding (1);	0.455201	0.24590	N	0.037226	T	0.72399	0.3455	N	0.21583	0.68	0.20703	N	0.999866	B;B	0.19073	0.0;0.033	B;B	0.16722	0.004;0.016	T	0.56001	-0.8051	10	0.02654	T	1	-4.0746	12.1761	0.54186	0.5054:0.0:0.4946:0.0	.	134;134	Q8TET4;Q2M2A3	GANC_HUMAN;.	L	134	ENSP00000326227:I134L	ENSP00000326227:I134L	I	+	1	0	GANC	40372295	0.008000	0.16893	0.068000	0.19968	0.713000	0.41058	0.023000	0.13533	-0.429000	0.07329	-0.359000	0.07587	ATC		0.428	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		C	42585003	A	C	42585003	3	2	504	1	0	0	0	0	1	0	0	0	6236	449	16	5	418	5	GANC	15	42585003	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	596442	42585003	59946389	78	27281											
VPS13C	54832	hgsc.bcm.edu;ucsc.edu	37	15	62173973	62173973	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr15:62173973G>C	ENST00000261517.5	-	70	9752	c.9679C>G	c.(9679-9681)Cct>Gct	p.P3227A	VPS13C_ENST00000249837.3_Missense_Mutation_p.P3184A|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395898.3_Missense_Mutation_p.P3184A|VPS13C_ENST00000395896.4_Missense_Mutation_p.P3227A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GATTTTGGAGGGGCAACAGGA	0.294																																																0													52	55	54					15																	62173973		2203	4297	6500	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9679C>G	15.37:g.62173973G>C	ENSP00000261517:p.Pro3227Ala			Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118081	0.77323	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.80033	-1.33;-1.33;-1.33	5.55	4.63	0.57726	.	0.055373	0.64402	N	0.000001	D	0.89897	0.6848	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.78314	0.986;0.986;0.991;0.968	D	0.90102	0.4185	10	0.41790	T	0.15	.	16.4732	0.84124	0.0:0.1312:0.8688:0.0	.	3184;3227;3184;3227	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	A	3184;3227;3227;3227	ENSP00000249837:P3184A;ENSP00000261517:P3227A;ENSP00000379233:P3227A	ENSP00000249837:P3184A	P	-	1	0	VPS13C	59961265	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.617000	0.83032	1.328000	0.45358	0.557000	0.71058	CCT		0.294	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62173973	G	C	62173973	3	2	504	1	0	0	0	0	1	0	0	0	17196	1232	43	4	1674	4	VPS13C	15	62173973	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	19588970	62173973	40357419	79	27282											
MGRN1	23295	hgsc.bcm.edu	37	16	4721421	4721421	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr16:4721421G>T	ENST00000399577.5	+	9	849	c.756G>T	c.(754-756)gaG>gaT	p.E252D	MGRN1_ENST00000262370.7_Missense_Mutation_p.E252D|MGRN1_ENST00000586183.1_Missense_Mutation_p.E252D|MGRN1_ENST00000415496.1_Missense_Mutation_p.E253D|MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000588994.1_Missense_Mutation_p.E252D	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	252					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TCCTGCAGGAGATCTATGGCA	0.592																																																0													87	89	88					16																	4721421		2092	4237	6329	SO:0001583	missense	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.756G>T	16.37:g.4721421G>T	ENSP00000382487:p.Glu252Asp		A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	g	20.8	4.053407	0.75960	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.09	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.85859	2.78	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;0.997;0.999	D;D;D;D;D;D	0.91635	0.995;0.999;0.997;0.997;0.946;0.997	T	0.58526	-0.7621	10	0.51188	T	0.08	-30.0453	9.7501	0.40470	0.1804:0.0:0.8196:0.0	.	252;252;252;253;252;252	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	D	252;252;253;252	ENSP00000262370:E252D;ENSP00000382487:E252D;ENSP00000393311:E253D;ENSP00000443810:E252D	ENSP00000262370:E252D	E	+	3	2	MGRN1	4661422	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.248000	0.58760	2.359000	0.80004	0.558000	0.71614	GAG		0.592	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			T	4721421	G	T	4721421	3	4	504	1	0	0	0	0	1	0	0	0	9561	933	33	4	793	4	MGRN1	16	4721421	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10		4721421	85633332	80	27283											
C16orf70	80262	hgsc.bcm.edu	37	16	67179492	67179492	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr16:67179492T>G	ENST00000219139.3	+	14	1258	c.1070T>G	c.(1069-1071)cTc>cGc	p.L357R	C16orf70_ENST00000569600.1_Missense_Mutation_p.L357R	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	357										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATCCAGGAGCTCCTGGGCCAC	0.592																																																0													80	67	71					16																	67179492		2199	4300	6499	SO:0001583	missense	80262			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1070T>G	16.37:g.67179492T>G	ENSP00000219139:p.Leu357Arg		Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586616	0.46110	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	N	0.08118	0	0.58432	D	0.999996	B	0.09022	0.002	B	0.12837	0.008	T	0.25502	-1.0130	9	0.15952	T	0.53	-0.0874	14.8671	0.70425	0.0:0.0:0.0:1.0	.	357	Q9BSU1	CP070_HUMAN	R	357	.	ENSP00000219139:L357R	L	+	2	0	C16orf70	65736993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.529000	0.81952	2.192000	0.70111	0.477000	0.44152	CTC		0.592	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		G	67179492	T	G	67179492	3	3	504	1	0	0	0	0	1	0	0	0	1831	1551	54	5	1124	5	C16orf70	16	67179492	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	62458071	67179492	23175261	81	27284											
CDH15	1013	hgsc.bcm.edu	37	16	89246670	89246670	+	Silent	SNP	T	T	C	rs59865771	byFrequency	TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr16:89246670T>C	ENST00000289746.2	+	3	329	c.264T>C	c.(262-264)gaT>gaC	p.D88D	CDH15_ENST00000521087.1_Intron	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCGGCGTGGATGAGGAGCCCC	0.602													C|||	2158	0.430911	0.3003	0.3141	5008	,	,		19591	0.8224		0.2813	False		,,,				2504	0.4407															0								C		1268,3124	675.8+/-403.1	177,914,1105	47	43	45		264	-6.6	0.7	16	dbSNP_129	45	2213,6387	690.5+/-404.4	303,1607,2390	no	coding-synonymous	CDH15	NM_004933.2		480,2521,3495	CC,CT,TT		25.7326,28.8707,26.7934		88/815	89246670	3481,9511	2196	4300	6496	SO:0001819	synonymous_variant	1013			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.264T>C	16.37:g.89246670T>C				Silent	SNP	ENST00000289746.2	37	CCDS10976.1																																																																																				0.602	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		C	89246670	T	C	89246670	2	2	504	1	0	0	0	0	0	0	0	1	3102	1461	51	3		3	CDH15	16	89246670	Silent	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	22067178	89246670	1108083	82	27285											
KPNB1	3837	hgsc.bcm.edu	37	17	45745724	45745724	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr17:45745724G>T	ENST00000290158.4	+	10	1579	c.1172G>T	c.(1171-1173)gGt>gTt	p.G391V	KPNB1_ENST00000535458.2_Missense_Mutation_p.G246V|KPNB1_ENST00000540627.1_Missense_Mutation_p.G246V|KPNB1_ENST00000537679.1_Missense_Mutation_p.G175V	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	391	Ran-GTP binding.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ATGGCTTTTGGTTGTATCTTG	0.443																																																0													94	91	92					17																	45745724		2203	4300	6503	SO:0001583	missense	3837			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1172G>T	17.37:g.45745724G>T	ENSP00000290158:p.Gly391Val		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872766	0.51695	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	H	0.97077	3.935	0.47737	D	0.999503	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89874	0.4025	9	0.87932	D	0	-24.8693	19.4882	0.95039	0.0:0.0:1.0:0.0	.	175;391	F5H4R7;Q14974	.;IMB1_HUMAN	V	246;391;246;175	ENSP00000438253:G246V;ENSP00000290158:G391V;ENSP00000438964:G246V;ENSP00000445006:G175V	ENSP00000290158:G391V	G	+	2	0	KPNB1	43100723	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	9.869000	0.99810	2.620000	0.88729	0.557000	0.71058	GGT		0.443	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		T	45745724	G	T	45745724	3	4	504	1	0	0	0	0	1	0	0	0	8437	1261	44	4	1210	4	KPNB1	17	45745724	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10		45745724	35449486	83	27286											
UBE2O	63893	hgsc.bcm.edu;ucsc.edu	37	17	74398736	74398736	+	Silent	SNP	C	C	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr17:74398736C>T	ENST00000319380.7	-	4	697	c.633G>A	c.(631-633)ggG>ggA	p.G211G		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	211					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CGTAGACCTTCCCCAGCCAGC	0.557																																																0													193	163	174					17																	74398736		2203	4300	6503	SO:0001819	synonymous_variant	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.633G>A	17.37:g.74398736C>T			A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	CCDS32742.1																																																																																				0.557	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		T	74398736	C	T	74398736	2	4	504	1	0	0	0	0	0	0	0	1	16873	842	30	2		2	UBE2O	17	74398736	Silent	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	28653012	74398736	6796474	84	27287											
KCTD1	284252	hgsc.bcm.edu	37	18	24127779	24127779	+	Intron	SNP	T	T	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr18:24127779T>A	ENST00000408011.3	-	1	545				KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000417602.1_Missense_Mutation_p.E241V|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			GTACGGGGGCTCATTGAGGTA	0.662																																																0													79	86	84					18																	24127779		692	1591	2283	SO:0001627	intron_variant	284252			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+1075A>T	18.37:g.24127779T>A			A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.585987	0.66105	.	.	ENSG00000134504	ENST00000417602	T	0.79247	-1.25	4.53	4.53	0.55603	.	.	.	.	.	D	0.82632	0.5079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.83343	-0.0007	6	0.49607	T	0.09	.	12.723	0.57152	0.0:0.0:0.0:1.0	.	.	.	.	V	241	ENSP00000408405:E241V	ENSP00000408405:E241V	E	-	2	0	KCTD1	22381777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.116000	0.77119	1.686000	0.51046	0.460000	0.39030	GAG		0.662	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		A	24127779	T	A	24127779	1	1	504	0	1	0	0	0	0	0	0	0	8098	1551	54	5		5	KCTD1	18	24127779	Intron	SNP	T	TCGA-CJ-4875-01A-01D-1373-10		24127779	53949469	85	27288											
TMEM146	257062	hgsc.bcm.edu	37	19	5727334	5727334	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr19:5727334A>T	ENST00000381624.3	+	3	243	c.182A>T	c.(181-183)aAa>aTa	p.K61I	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	61					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CCTTGCGAGAAAAATATAGCA	0.323																																																0													99	93	95					19																	5727334		1818	4075	5893	SO:0001583	missense	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.182A>T	19.37:g.5727334A>T	ENSP00000371037:p.Lys61Ile		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	A	8.839	0.941752	0.18281	.	.	ENSG00000174898	ENST00000381624	T	0.24350	1.86	3.0	-0.36	0.12568	.	.	.	.	.	T	0.30603	0.0770	L	0.57536	1.79	0.19300	N	0.999971	D	0.57899	0.981	P	0.51550	0.673	T	0.15694	-1.0428	9	0.59425	D	0.04	.	5.7853	0.18331	0.5316:0.0:0.4684:0.0	.	61	Q86XM0	TM146_HUMAN	I	61	ENSP00000371037:K61I	ENSP00000371037:K61I	K	+	2	0	TMEM146	5678334	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.622000	0.24433	-0.139000	0.11414	-0.456000	0.05471	AAA		0.323	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		T	5727334	A	T	5727334	3	4	504	1	0	0	0	0	1	0	0	0	16065	14	1	5	192	5	TMEM146	19	5727334	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10		5727334	53401649	86	27289											
ZNF699	374879	hgsc.bcm.edu;ucsc.edu	37	19	9407410	9407410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr19:9407410G>A	ENST00000591998.1	-	6	898	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Nonsense_Mutation_p.Q224*			Q32M78	ZN699_HUMAN	zinc finger protein 699	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCTTGCACTGATAGGGTTTG	0.438																																																0													142	134	137					19																	9407410		2064	4227	6291	SO:0001587	stop_gained	374879			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.670C>T	19.37:g.9407410G>A	ENSP00000467723:p.Gln224*		Q8N9A1	Nonsense_Mutation	SNP	ENST00000591998.1	37	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.757100	0.31137	.	.	ENSG00000196110	ENST00000308650	.	.	.	3.51	-1.63	0.08345	.	0.787438	0.10417	N	0.677187	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	3.7881	0.08709	0.1027:0.4718:0.2657:0.1598	.	.	.	.	X	224	.	ENSP00000311596:Q224X	Q	-	1	0	ZNF699	9268410	0.000000	0.05858	0.006000	0.13384	0.278000	0.26855	-3.293000	0.00523	-0.155000	0.11098	0.555000	0.69702	CAG		0.438	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		A	9407410	G	A	9407410	4	1	504	1	0	0	0	0	0	1	0	0	18106	1299	45	2	1262	2	ZNF699	19	9407410	Nonsense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	3680076	9407410	49721573	87	27290											
ZNF763	284390	hgsc.bcm.edu;ucsc.edu	37	19	12089194	12089194	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr19:12089194C>T	ENST00000358987.3	+	4	582	c.455C>T	c.(454-456)gCc>gTc	p.A152V	ZNF763_ENST00000538752.1_Missense_Mutation_p.A172V|ZNF763_ENST00000343949.5_Missense_Mutation_p.A155V|ZNF763_ENST00000590798.1_Missense_Mutation_p.A172V|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000545530.1_Missense_Mutation_p.A30V			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CCTAAGAAAGCCTTCAGATAT	0.403																																																0													139	143	141					19																	12089194		2199	4300	6499	SO:0001583	missense	284390			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.455C>T	19.37:g.12089194C>T	ENSP00000402017:p.Ala152Val		B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37		.	.	.	.	.	.	.	.	.	.	c	9.374	1.071276	0.20147	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	1.68	0.561	0.17285	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14399	0.0348	L	0.50847	1.595	0.09310	N	1	B;B;B	0.15141	0.004;0.012;0.003	B;B;B	0.16722	0.011;0.016;0.001	T	0.30416	-0.9979	9	0.59425	D	0.04	.	3.9959	0.09558	0.0:0.5707:0.0:0.4293	.	172;152;155	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	V	172;155;30;152	ENSP00000438117:A172V;ENSP00000369774:A155V;ENSP00000446166:A30V;ENSP00000402017:A152V	ENSP00000369774:A155V	A	+	2	0	ZNF763	11950194	0.000000	0.05858	0.002000	0.10522	0.062000	0.15995	-0.730000	0.04915	0.036000	0.15547	0.195000	0.17529	GCC		0.403	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		T	12089194	C	T	12089194	3	4	504	1	0	0	0	0	1	0	0	0	18142	739	26	2	478	2	ZNF763	19	12089194	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	2681784	12089194	47039789	88	27291											
JAK3	3718	hgsc.bcm.edu	37	19	17945716	17945716	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr19:17945716A>G	ENST00000527670.1	-	15	2173	c.2144T>C	c.(2143-2145)gTc>gCc	p.V715A	JAK3_ENST00000534444.1_Missense_Mutation_p.V715A|JAK3_ENST00000458235.1_Missense_Mutation_p.V715A			P52333	JAK3_HUMAN	Janus kinase 3	715	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CACTTCCCAGACCGTGGCGCC	0.627		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													73	78	77					19																	17945716		2203	4300	6503	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2144T>C	19.37:g.17945716A>G	ENSP00000432511:p.Val715Ala		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.121166	0.37436	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;T	0.62364	0.03;0.03;0.03	4.89	2.78	0.32641	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.482215	0.19642	N	0.109427	T	0.46405	0.1391	N	0.16833	0.445	0.28639	N	0.907258	B;B	0.32324	0.364;0.238	B;B	0.37731	0.209;0.257	T	0.45804	-0.9236	10	0.87932	D	0	-26.5851	7.2232	0.25999	0.8047:0.0:0.1953:0.0	.	715;715	P52333-2;P52333	.;JAK3_HUMAN	A	715	ENSP00000391676:V715A;ENSP00000432511:V715A;ENSP00000436421:V715A	ENSP00000391676:V715A	V	-	2	0	JAK3	17806716	0.989000	0.36119	0.933000	0.37362	0.372000	0.29890	4.906000	0.63293	0.236000	0.21180	-0.451000	0.05528	GTC		0.627	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		G	17945716	A	G	17945716	3	3	504	1	0	0	0	0	1	0	0	0	7941	275	10	3	1266	3	JAK3	19	17945716	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	5856522	17945716	41183267	89	27292											
DMKN	93099	hgsc.bcm.edu;ucsc.edu	37	19	36002673	36002673	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr19:36002673T>A	ENST00000339686.3	-	4	903	c.727A>T	c.(727-729)Aac>Tac	p.N243Y	DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.N243Y|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.N243Y|DMKN_ENST00000451297.2_Missense_Mutation_p.N243Y|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.N243Y|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.N243Y|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.N243Y|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000429837.1_Missense_Mutation_p.N243Y|DMKN_ENST00000492341.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	243	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCCCAGAGTTGCTGGAGCCT	0.582																																																0													111	103	106					19																	36002673		2203	4300	6503	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.727A>T	19.37:g.36002673T>A	ENSP00000342012:p.Asn243Tyr		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954369	0.34471	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.46	-0.434	0.12283	.	0.848027	0.10073	N	0.719424	T	0.41834	0.1176	M	0.63843	1.955	0.09310	N	1	P;P;P;P;P;P;P	0.49635	0.926;0.926;0.926;0.926;0.815;0.815;0.815	P;P;P;P;B;B;B	0.47528	0.549;0.549;0.549;0.549;0.329;0.329;0.329	T	0.31696	-0.9934	10	0.54805	T	0.06	-0.7289	4.6862	0.12758	0.0:0.1987:0.4071:0.3942	.	243;243;243;243;243;243;243	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	Y	243	ENSP00000342012:N243Y;ENSP00000405503:N243Y;ENSP00000391036:N243Y;ENSP00000394908:N243Y;ENSP00000415277:N243Y;ENSP00000414743:N243Y;ENSP00000388404:N243Y;ENSP00000409513:N243Y	ENSP00000342012:N243Y	N	-	1	0	DMKN	40694513	0.000000	0.05858	0.016000	0.15963	0.397000	0.30659	-1.485000	0.02314	-0.037000	0.13646	0.459000	0.35465	AAC		0.582	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		A	36002673	T	A	36002673	3	1	504	1	0	0	0	0	1	0	0	0	4584	1812	63	5	1072	5	DMKN	19	36002673	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	18056957	36002673	23126310	90	27293											
APLP1	333	hgsc.bcm.edu	37	19	36370071	36370071	+	Silent	SNP	C	C	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr19:36370071C>A	ENST00000221891.4	+	16	2001	c.1809C>A	c.(1807-1809)ctC>ctA	p.L603L	APLP1_ENST00000537454.2_Silent_p.L563L|RN7SL402P_ENST00000465059.1_RNA|APLP1_ENST00000586861.1_Silent_p.L596L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	602					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.L603L(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCATGCTGCTCCTGCGCAGGA	0.647																																																1	Substitution - coding silent(1)	ovary(1)											58	59	59					19																	36370071		2203	4300	6503	SO:0001819	synonymous_variant	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1809C>A	19.37:g.36370071C>A			O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	CCDS32997.1																																																																																				0.647	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		A	36370071	C	A	36370071	2	1	504	1	0	0	0	0	0	0	0	1	778	842	30	4		4	APLP1	19	36370071	Silent	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	367398	36370071	22758912	91	27294											
RASGRP4	115727	hgsc.bcm.edu;ucsc.edu	37	19	38904103	38904103	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr19:38904103G>T	ENST00000587738.1	-	10	1312	c.1242C>A	c.(1240-1242)gaC>gaA	p.D414E	RASGRP4_ENST00000587753.1_Missense_Mutation_p.D345E|RASGRP4_ENST00000293062.9_Missense_Mutation_p.D317E|RASGRP4_ENST00000586305.1_Missense_Mutation_p.D400E|RASGRP4_ENST00000454404.2_Missense_Mutation_p.D380E|RASGRP4_ENST00000433821.2_Missense_Mutation_p.D322E|RASGRP4_ENST00000426920.2_Missense_Mutation_p.D225E			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	414	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTAGAAGAGGTCCAGGGAGA	0.617																																																0													29	37	35					19																	38904103		2023	4169	6192	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1242C>A	19.37:g.38904103G>T	ENSP00000465772:p.Asp414Glu		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544151	0.65198	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T	0.66280	-0.2;-0.2;-0.2	5.25	3.19	0.36642	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.094050	0.64402	D	0.000001	T	0.71341	0.3328	L	0.56769	1.78	0.43559	D	0.995873	D;P;D;D;D;D;D	0.89917	0.999;0.55;1.0;0.999;0.999;1.0;0.999	D;P;D;D;D;D;D	0.97110	0.991;0.573;0.998;0.991;0.991;1.0;0.991	T	0.68704	-0.5338	10	0.54805	T	0.06	-19.6276	7.4051	0.26985	0.8162:0.0:0.1838:0.0	.	225;317;322;380;345;400;414	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	E	322;317;225;414;414	ENSP00000411878:D322E;ENSP00000293062:D317E;ENSP00000445966:D225E	ENSP00000293062:D317E	D	-	3	2	RASGRP4	43595943	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.059000	0.30517	0.469000	0.27268	-0.302000	0.09304	GAC		0.617	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		T	38904103	G	T	38904103	3	4	504	1	0	0	0	0	1	0	0	0	13083	1252	44	4	811	4	RASGRP4	19	38904103	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	2534032	38904103	20224880	92	27295											
RINL	126432	hgsc.bcm.edu	37	19	39361237	39361237	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr19:39361237C>A	ENST00000591812.1	-	8	1083	c.997G>T	c.(997-999)Ggg>Tgg	p.G333W	RINL_ENST00000602238.1_5'UTR|RINL_ENST00000598904.1_Missense_Mutation_p.G219W|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.G219W			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	333					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TTGGGGAGCCCAGGACCCCTG	0.597																																																0													47	46	47					19																	39361237		2203	4300	6503	SO:0001583	missense	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.997G>T	19.37:g.39361237C>A	ENSP00000467107:p.Gly333Trp		B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637575	0.29157	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.29655	1.56	5.09	-1.32	0.09201	.	0.755486	0.12778	N	0.439920	T	0.29652	0.0740	L	0.29908	0.895	0.09310	N	1	D;D	0.63046	0.992;0.992	P;P	0.58577	0.841;0.841	T	0.13764	-1.0497	10	0.46703	T	0.11	-15.6663	4.328	0.11050	0.0:0.3299:0.359:0.311	.	333;219	B4DPG5;Q6ZS11	.;RINL_HUMAN	W	219	ENSP00000340369:G219W	ENSP00000340369:G219W	G	-	1	0	RINL	44053077	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.038000	0.12144	0.031000	0.15407	0.484000	0.47621	GGG		0.597	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		A	39361237	C	A	39361237	3	1	504	1	0	0	0	0	1	0	0	0	13381	594	21	4	723	4	RINL	19	39361237	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	457134	39361237	19767746	93	27296											
CEACAM4	1089	hgsc.bcm.edu;ucsc.edu	37	19	42132312	42132312	+	Silent	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr19:42132312G>A	ENST00000221954.2	-	2	197	c.87C>T	c.(85-87)caC>caT	p.H29H	CEACAM4_ENST00000600925.1_Silent_p.H29H	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	29			H -> D (in dbSNP:rs1126454). {ECO:0000269|PubMed:2050678}.			integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TGGTGGGCGGGTGCCAGAAGG	0.512																																																0													60	63	62					19																	42132312		2203	4300	6503	SO:0001819	synonymous_variant	1089			D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.87C>T	19.37:g.42132312G>A			Q03715|Q7LDZ7	Silent	SNP	ENST00000221954.2	37	CCDS33033.1																																																																																				0.512	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		A	42132312	G	A	42132312	2	1	504	1	0	0	0	0	0	0	0	1	3196	1252	44	2		2	CEACAM4	19	42132312	Silent	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	2771075	42132312	16996671	94	27297											
LYPD4	147719	hgsc.bcm.edu	37	19	42341417	42341417	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr19:42341417A>G	ENST00000330743.3	-	5	1752	c.541T>C	c.(541-543)Ttt>Ctt	p.F181L	LYPD4_ENST00000343055.4_Missense_Mutation_p.F146L|LYPD4_ENST00000601246.1_Missense_Mutation_p.F146L|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	181	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GTATTGAGAAACCCTGTAAGG	0.488																																																0													110	108	109					19																	42341417		2203	4300	6503	SO:0001583	missense	147719			AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.541T>C	19.37:g.42341417A>G	ENSP00000328737:p.Phe181Leu		Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	A	4.430	0.079614	0.08533	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.69435	-0.4;-0.4	2.94	-4.29	0.03721	CD59 antigen (1);	2.054550	0.02451	N	0.085583	T	0.46367	0.1389	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.23476	-1.0187	10	0.49607	T	0.09	8.3106	3.5228	0.07748	0.2634:0.0:0.3849:0.3517	.	146;181	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	L	181;146	ENSP00000328737:F181L;ENSP00000339568:F146L	ENSP00000328737:F181L	F	-	1	0	LYPD4	47033257	0.000000	0.05858	0.001000	0.08648	0.313000	0.28021	-1.419000	0.02460	-1.161000	0.02800	0.454000	0.30748	TTT		0.488	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		G	42341417	A	G	42341417	3	3	504	1	0	0	0	0	1	0	0	0	9114	43	2	3	203	3	LYPD4	19	42341417	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	209105	42341417	16787566	95	27298											
SLC6A16	28968	hgsc.bcm.edu;ucsc.edu	37	19	49793633	49793633	+	Missense_Mutation	SNP	C	C	T	rs368464579		TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr19:49793633C>T	ENST00000335875.4	-	12	2199	c.1958G>A	c.(1957-1959)cGa>cAa	p.R653Q	SLC6A16_ENST00000454748.3_3'UTR	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	653					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGGGTATGGTCGAAGCACCTC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19731	0.0		0.001	False		,,,				2504	0.0															0								C	GLN/ARG	0,3894		0,0,1947	63	61	61		1958	0.2	0	19		61	2,8294		0,2,4146	no	missense	SLC6A16	NM_014037.2	43	0,2,6093	TT,TC,CC		0.0241,0.0,0.0164	possibly-damaging	653/737	49793633	2,12188	1947	4148	6095	SO:0001583	missense	28968			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1958G>A	19.37:g.49793633C>T	ENSP00000338627:p.Arg653Gln		Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.784116	0.31593	0.0	2.41E-4	ENSG00000063127	ENST00000335875	T	0.74315	-0.83	5.1	0.211	0.15236	.	0.655328	0.14301	N	0.328256	T	0.49372	0.1553	N	0.21617	0.685	0.09310	N	1	P	0.50272	0.933	B	0.37780	0.258	T	0.43572	-0.9383	10	0.22109	T	0.4	.	3.7789	0.08673	0.1683:0.5579:0.0:0.2738	.	653	Q9GZN6	S6A16_HUMAN	Q	653	ENSP00000338627:R653Q	ENSP00000338627:R653Q	R	-	2	0	SLC6A16	54485445	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.007000	0.13174	0.386000	0.24997	-0.208000	0.12717	CGA		0.488	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		T	49793633	C	T	49793633	3	4	504	1	0	0	0	0	1	0	0	0	14685	884	31	1	256	1	SLC6A16	19	49793633	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	7452216	49793633	9335350	96	27299											
TGM3	7053	hgsc.bcm.edu	37	20	2291724	2291724	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr20:2291724C>G	ENST00000381458.5	+	4	552	c.489C>G	c.(487-489)atC>atG	p.I163M		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	163			I -> L (in dbSNP:rs6048066). {ECO:0000269|Ref.3}.		cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCGGCATCATCTTTGTGGGAA	0.453																																																0													155	146	149					20																	2291724		2203	4300	6503	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.489C>G	20.37:g.2291724C>G	ENSP00000370867:p.Ile163Met		A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236233	0.39498	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.89552	-2.53	5.71	-0.378	0.12497	.	0.243134	0.42821	N	0.000652	D	0.92538	0.7630	M	0.88181	2.935	0.42409	D	0.992591	D	0.76494	0.999	D	0.91635	0.999	D	0.88006	0.2759	10	0.87932	D	0	.	1.4732	0.02420	0.2551:0.4047:0.1134:0.2267	.	163	Q08188	TGM3_HUMAN	M	163	ENSP00000370867:I163M	ENSP00000370867:I163M	I	+	3	3	TGM3	2239724	0.991000	0.36638	0.472000	0.27241	0.435000	0.31806	0.331000	0.19733	0.069000	0.16605	-0.315000	0.08773	ATC		0.453	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		G	2291724	C	G	2291724	3	3	504	1	0	0	0	0	1	0	0	0	15836	903	32	4	503	4	TGM3	20	2291724	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10		2291724	60733796	97	27300											
TMC2	117532	hgsc.bcm.edu;ucsc.edu	37	20	2577832	2577832	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr20:2577832G>A	ENST00000358864.1	+	10	1127	c.1112G>A	c.(1111-1113)gGg>gAg	p.G371E		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	371					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACAGGCGAAGGGGAGAGTGAC	0.522																																																0													139	105	117					20																	2577832		2203	4300	6503	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1112G>A	20.37:g.2577832G>A	ENSP00000351732:p.Gly371Glu		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642374	0.47153	.	.	ENSG00000149488	ENST00000358864	T	0.53640	0.61	5.43	4.48	0.54585	.	0.049676	0.85682	N	0.000000	T	0.51941	0.1704	M	0.69823	2.125	0.58432	D	0.999999	B;B;B;B	0.34147	0.058;0.017;0.326;0.438	B;B;B;B	0.39419	0.076;0.016;0.299;0.242	T	0.57670	-0.7771	10	0.72032	D	0.01	-15.6317	12.5458	0.56199	0.0821:0.0:0.9179:0.0	.	202;203;371;371	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	E	371	ENSP00000351732:G371E	ENSP00000351732:G371E	G	+	2	0	TMC2	2525832	1.000000	0.71417	0.990000	0.47175	0.930000	0.56654	5.820000	0.69250	1.433000	0.47394	0.655000	0.94253	GGG		0.522	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			A	2577832	G	A	2577832	3	1	504	1	0	0	0	0	1	0	0	0	15990	1232	43	2	1150	2	TMC2	20	2577832	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	286108	2577832	60447688	98	27301											
PHF20	51230	hgsc.bcm.edu;ucsc.edu	37	20	34458954	34458954	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr20:34458954A>G	ENST00000374012.3	+	8	1129	c.1000A>G	c.(1000-1002)Aat>Gat	p.N334D	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	334					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCTGTCCACTAATGGGACCCA	0.433																																																0													160	143	149					20																	34458954		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1000A>G	20.37:g.34458954A>G	ENSP00000363124:p.Asn334Asp		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717303	0.30413	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.49139	1.45;0.79;0.8	5.41	4.32	0.51571	.	0.512797	0.22172	N	0.063636	T	0.30166	0.0756	L	0.29908	0.895	0.80722	D	1	B;B	0.23937	0.016;0.094	B;B	0.20767	0.014;0.031	T	0.05305	-1.0893	10	0.10111	T	0.7	.	7.9778	0.30166	0.8336:0.0:0.1664:0.0	.	334;334	Q9BVI0;Q66K49	PHF20_HUMAN;.	D	334	ENSP00000363124:N334D;ENSP00000341900:N334D;ENSP00000363112:N334D	ENSP00000341900:N334D	N	+	1	0	PHF20	33922368	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.182000	0.42556	0.904000	0.36572	0.482000	0.46254	AAT		0.433	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		G	34458954	A	G	34458954	3	3	504	1	0	0	0	0	1	0	0	0	11833	362	13	3	1026	3	PHF20	20	34458954	Missense_Mutation	SNP	A	TCGA-CJ-4875-01A-01D-1373-10	31881122	34458954	28566566	99	27302											
IFT52	51098	hgsc.bcm.edu;ucsc.edu	37	20	42242573	42242573	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr20:42242573G>C	ENST00000373030.3	+	7	699	c.569G>C	c.(568-570)tGc>tCc	p.C190S	IFT52_ENST00000373039.4_Missense_Mutation_p.C190S	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	190					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGTTCTGTCTGCTTCCCACTT	0.383																																																0													97	90	93					20																	42242573		2203	4300	6503	SO:0001583	missense	51098			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.569G>C	20.37:g.42242573G>C	ENSP00000362121:p.Cys190Ser		B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657975	0.29425	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.38480	0.1042	N	0.11201	0.11	0.80722	D	1	B	0.21688	0.059	B	0.17098	0.017	T	0.31364	-0.9946	9	0.07644	T	0.81	-11.2604	19.0975	0.93258	0.0:0.0:1.0:0.0	.	190	Q9Y366	IFT52_HUMAN	S	190	.	ENSP00000362121:C190S	C	+	2	0	IFT52	41675987	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.639000	0.98448	2.885000	0.99019	0.655000	0.94253	TGC		0.383	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		C	42242573	G	C	42242573	3	2	504	1	0	0	0	0	1	0	0	0	7563	1319	46	4	591	4	IFT52	20	42242573	Missense_Mutation	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	7783619	42242573	20782947	100	27303	206	2									
IFT52	51098	hgsc.bcm.edu;ucsc.edu	37	20	42242577	42242577	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr20:42242577C>A	ENST00000373030.3	+	7	703	c.573C>A	c.(571-573)ttC>ttA	p.F191L	IFT52_ENST00000373039.4_Missense_Mutation_p.F191L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	191					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTGTCTGCTTCCCACTTAACA	0.388																																																0													99	91	94					20																	42242577		2203	4300	6503	SO:0001583	missense	51098			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.573C>A	20.37:g.42242577C>A	ENSP00000362121:p.Phe191Leu		B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992264	0.54041	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.75	1.15	0.20763	.	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	M	0.80422	2.495	0.58432	D	0.999995	B	0.27013	0.166	B	0.19666	0.026	T	0.52646	-0.8548	9	0.40728	T	0.16	-13.8994	6.763	0.23550	0.0:0.4619:0.0:0.5381	.	191	Q9Y366	IFT52_HUMAN	L	191	.	ENSP00000362121:F191L	F	+	3	2	IFT52	41675991	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	0.756000	0.26419	0.456000	0.26937	-0.140000	0.14226	TTC		0.388	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		A	42242577	C	A	42242577	3	1	504	1	0	0	0	0	1	0	0	0	7563	854	30	4	595	4	IFT52	20	42242577	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	4	42242577	20782943	101	27304	206	2									
MYBL2	4605	hgsc.bcm.edu	37	20	42340166	42340166	+	Silent	SNP	G	G	T	rs538589567		TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr20:42340166G>T	ENST00000217026.4	+	11	1771	c.1644G>T	c.(1642-1644)gtG>gtT	p.V548V	MYBL2_ENST00000396863.4_Silent_p.V524V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	548					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGAAGGAGGTGCTGCGTTCTG	0.632																																																0													70	57	62					20																	42340166		2203	4300	6503	SO:0001819	synonymous_variant	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1644G>T	20.37:g.42340166G>T			B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	CCDS13322.1																																																																																				0.632	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		T	42340166	G	T	42340166	2	4	504	1	0	0	0	0	0	0	0	1	10012	1306	46	4		4	MYBL2	20	42340166	Silent	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	97589	42340166	20685354	102	27305											
TSHZ2	128553	hgsc.bcm.edu	37	20	51872581	51872581	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr20:51872581T>C	ENST00000371497.5	+	2	3471	c.2584T>C	c.(2584-2586)Tcg>Ccg	p.S862P	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S859P|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S859P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	862					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCAGTTTGCCTCGAGCCTCTT	0.488																																																0													59	60	60					20																	51872581		2203	4300	6503	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2584T>C	20.37:g.51872581T>C	ENSP00000360552:p.Ser862Pro		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.800054	0.50208	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.21932	1.98;1.98	5.52	5.52	0.82312	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.23440	-1.0188	10	0.87932	D	0	1.1679	15.657	0.77144	0.0:0.0:0.0:1.0	.	862	Q9NRE2	TSH2_HUMAN	P	862;859;388	ENSP00000360552:S862P;ENSP00000333114:S859P	ENSP00000333114:S859P	S	+	1	0	TSHZ2	51305988	1.000000	0.71417	0.996000	0.52242	0.478000	0.33099	7.693000	0.84214	2.096000	0.63516	0.523000	0.50628	TCG		0.488	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		C	51872581	T	C	51872581	3	2	504	1	0	0	0	0	1	0	0	0	16629	1551	54	3	2590	3	TSHZ2	20	51872581	Missense_Mutation	SNP	T	TCGA-CJ-4875-01A-01D-1373-10	9532415	51872581	11152939	103	27306											
CABIN1	23523	hgsc.bcm.edu;ucsc.edu	37	22	24567705	24567705	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr22:24567705C>A	ENST00000398319.2	+	34	6167	c.5782C>A	c.(5782-5784)Cca>Aca	p.P1928T	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.P353T|CABIN1_ENST00000405822.2_Missense_Mutation_p.P1849T|CABIN1_ENST00000263119.5_Missense_Mutation_p.P1928T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1928					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCCACCACTCCAAAGCACCC	0.637																																																0													119	129	126					22																	24567705		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5782C>A	22.37:g.24567705C>A	ENSP00000381364:p.Pro1928Thr		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287754	0.80803	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	4.9	4.9	0.64082	.	0.057551	0.64402	N	0.000001	T	0.36193	0.0958	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.04781	-1.0927	10	0.51188	T	0.08	.	16.4399	0.83896	0.0:1.0:0.0:0.0	.	1849;1928	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	T	1928;1849;1928;353;352	ENSP00000263119:P1928T;ENSP00000384694:P1849T;ENSP00000381364:P1928T;ENSP00000336991:P353T	ENSP00000263119:P1928T	P	+	1	0	CABIN1	22897705	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.412000	0.66392	2.664000	0.90586	0.650000	0.86243	CCA		0.637	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		A	24567705	C	A	24567705	3	1	504	1	0	0	0	0	1	0	0	0	2530	855	30	4	5912	4	CABIN1	22	24567705	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10		24567705	26736861	104	27307											
ELFN2	114794	hgsc.bcm.edu	37	22	37769178	37769178	+	Silent	SNP	G	G	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chr22:37769178G>T	ENST00000402918.2	-	3	3182	c.2397C>A	c.(2395-2397)gcC>gcA	p.A799A	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	799					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCTCGTCCTTGGCGAACTGGA	0.632																																																0													98	88	91					22																	37769178		2203	4300	6503	SO:0001819	synonymous_variant	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2397C>A	22.37:g.37769178G>T			Q96PY3	Silent	SNP	ENST00000402918.2	37	CCDS33642.1																																																																																				0.632	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		T	37769178	G	T	37769178	2	4	504	1	0	0	0	0	0	0	0	1	5060	1335	47	4		4	ELFN2	22	37769178	Silent	SNP	G	TCGA-CJ-4875-01A-01D-1373-10	13201473	37769178	13535388	105	27308											
ACE2	59272	hgsc.bcm.edu	37	X	15585872	15585872	+	Silent	SNP	T	T	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chrX:15585872T>A	ENST00000252519.3	-	15	2076	c.1974A>T	c.(1972-1974)gtA>gtT	p.V658V	ACE2_ENST00000427411.1_Silent_p.V658V|ACE2_ENST00000471548.1_5'Flank			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	658	Essential for cleavage by ADAM17.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TCTGATTTTTTACTTTTAAAA	0.378																																																0													95	91	92					X																	15585872		2203	4300	6503	SO:0001819	synonymous_variant	59272			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1974A>T	X.37:g.15585872T>A			C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Silent	SNP	ENST00000252519.3	37	CCDS14169.1																																																																																				0.378	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			A	15585872	T	A	15585872	2	1	504	1	0	0	0	0	0	0	0	1	137	1741	61	5		5	ACE2	23	15585872	Silent	SNP	T	TCGA-CJ-4875-01A-01D-1373-10		15585872	139684688	106	27309											
USP9X	8239	hgsc.bcm.edu	37	X	41025293	41025293	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chrX:41025293C>A	ENST00000324545.8	+	16	2787	c.2154C>A	c.(2152-2154)gaC>gaA	p.D718E	USP9X_ENST00000378308.2_Missense_Mutation_p.D718E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	718					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTAATAAGGACTTCTTTGAAA	0.388																																					Ovarian(172;1807 2695 35459 49286)											0													143	136	138					X																	41025293		2203	4300	6503	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2154C>A	X.37:g.41025293C>A	ENSP00000316357:p.Asp718Glu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530323	0.27387	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03004	4.08;4.08	5.02	2.26	0.28386	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.02494	0.0076	L	0.27053	0.805	0.51012	D	0.9999	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.002	T	0.41179	-0.9523	10	0.06494	T	0.89	.	9.2475	0.37536	0.0:0.6882:0.0:0.3118	.	718;718	Q93008-1;Q93008	.;USP9X_HUMAN	E	718	ENSP00000367558:D718E;ENSP00000316357:D718E	ENSP00000316357:D718E	D	+	3	2	USP9X	40910237	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.580000	0.46068	0.467000	0.27218	-0.853000	0.03031	GAC		0.388	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		A	41025293	C	A	41025293	3	1	504	1	0	0	0	0	1	0	0	0	17095	564	20	4	2212	4	USP9X	23	41025293	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	25439421	41025293	114245267	107	27310											
FHL1	2273	hgsc.bcm.edu	37	X	135290019	135290019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chrX:135290019C>T	ENST00000345434.3	+	4	481	c.400C>T	c.(400-402)Caa>Taa	p.Q134*	FHL1_ENST00000539015.1_Nonsense_Mutation_p.Q163*|FHL1_ENST00000370690.3_Nonsense_Mutation_p.Q134*|FHL1_ENST00000370676.3_Nonsense_Mutation_p.Q150*|FHL1_ENST00000370683.1_Nonsense_Mutation_p.Q150*|FHL1_ENST00000543669.1_Nonsense_Mutation_p.Q134*|FHL1_ENST00000535737.1_Nonsense_Mutation_p.Q134*|FHL1_ENST00000394153.2_Nonsense_Mutation_p.Q134*|FHL1_ENST00000394155.2_Nonsense_Mutation_p.Q134*			Q13642	FHL1_HUMAN	four and a half LIM domains 1	134	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					TAACTGCAAGCAAGTCATCGG	0.512																																																0													122	97	105					X																	135290019		2203	4300	6503	SO:0001587	stop_gained	2273			U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.400C>T	X.37:g.135290019C>T	ENSP00000071281:p.Gln134*		B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Nonsense_Mutation	SNP	ENST00000345434.3	37	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	C	36	5.647675	0.96714	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	12.4884	0.55886	0.1677:0.8323:0.0:0.0	.	.	.	.	X	134;134;114;134;134;134;134;134;134;134;134;174;134;134;163;150;150;129;134	.	ENSP00000071281:Q134X	Q	+	1	0	FHL1	135117685	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.857000	0.55972	2.029000	0.59856	0.600000	0.82982	CAA		0.512	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		T	135290019	C	T	135290019	4	4	504	1	0	0	0	0	0	1	0	0	5880	711	25	2	527	2	FHL1	23	135290019	Nonsense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	94264726	135290019	19980541	108	27311											
GPR112	139378	hgsc.bcm.edu	37	X	135431960	135431960	+	Missense_Mutation	SNP	C	C	A	rs145052934		TCGA-CJ-4875-01A-01D-1373-10	TCGA-CJ-4875-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	03121d77-7273-499f-8405-6bf3a76d30bf	97a9f656-3230-4832-91d5-6827503e146d	g.chrX:135431960C>A	ENST00000394143.1	+	6	6386	c.6095C>A	c.(6094-6096)tCc>tAc	p.S2032Y	GPR112_ENST00000287534.4_Missense_Mutation_p.S1969Y|GPR112_ENST00000412101.1_Missense_Mutation_p.S1827Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S1827Y|GPR112_ENST00000370652.1_Missense_Mutation_p.S2032Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2032					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S2032F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTTATGACTTCCTCTACAGTA	0.448																																																1	Substitution - Missense(1)	skin(1)											149	120	130					X																	135431960		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6095C>A	X.37:g.135431960C>A	ENSP00000377699:p.Ser2032Tyr		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	19.65	3.866648	0.72065	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.38722	1.35;1.35;1.31;1.12;1.31	4.13	4.13	0.48395	.	.	.	.	.	T	0.50769	0.1635	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;0.983;0.971	D;P;P	0.79108	0.992;0.773;0.598	T	0.36529	-0.9744	9	0.54805	T	0.06	.	11.45	0.50147	0.0:1.0:0.0:0.0	.	1969;1827;2032	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Y	2032;2032;1827;1969;1827	ENSP00000377699:S2032Y;ENSP00000359686:S2032Y;ENSP00000416526:S1827Y;ENSP00000287534:S1969Y;ENSP00000377697:S1827Y	ENSP00000287534:S1969Y	S	+	2	0	GPR112	135259626	0.011000	0.17503	0.053000	0.19242	0.571000	0.35966	2.375000	0.44283	1.824000	0.53156	0.592000	0.82586	TCC		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			A	135431960	C	A	135431960	3	1	504	1	0	0	0	0	1	0	0	0	6631	855	30	4	6105	4	GPR112	23	135431960	Missense_Mutation	SNP	C	TCGA-CJ-4875-01A-01D-1373-10	141941	135431960	19838600	109	27312											
KIF2C	11004	hgsc.bcm.edu	37	1	45205617	45205617	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr1:45205617T>G	ENST00000372224.4	+	1	126	c.13T>G	c.(13-15)Tcg>Gcg	p.S5A	KIF2C_ENST00000372218.4_Missense_Mutation_p.S5A|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	5	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GGCCATGGACTCGTCGCTTCA	0.562																																																0													321	332	328					1																	45205617		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.13T>G	1.37:g.45205617T>G	ENSP00000361298:p.Ser5Ala		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	t	7.573	0.667111	0.14710	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218	T;T;T	0.74209	1.18;-0.82;-0.67	5.47	3.05	0.35203	.	0.572464	0.19437	N	0.114295	T	0.42404	0.1201	N	0.02539	-0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41752	-0.9491	10	0.02654	T	1	.	9.3348	0.38043	0.0:0.0:0.3829:0.6171	.	5;5	B7Z6Q6;Q99661	.;KIF2C_HUMAN	A	5	ENSP00000410346:S5A;ENSP00000361298:S5A;ENSP00000361292:S5A	ENSP00000361292:S5A	S	+	1	0	KIF2C	44978204	0.998000	0.40836	0.998000	0.56505	0.865000	0.49528	1.109000	0.31135	1.062000	0.40625	0.454000	0.30748	TCG		0.562	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		G	45205617	T	G	45205617	3	3	505	1	0	0	0	0	1	0	0	0	8301	1551	54	5	15	5	KIF2C	1	45205617	Missense_Mutation	SNP	T	TCGA-CJ-4876-01A-01D-1373-10		45205617	204045004	1	27313											
NSUN4	387338	hgsc.bcm.edu	37	1	46806550	46806550	+	Missense_Mutation	SNP	C	C	T	rs41293277	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr1:46806550C>T	ENST00000474844.1	+	1	702	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	NSUN4_ENST00000537428.1_5'Flank|NSUN4_ENST00000536062.1_5'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	18					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GCGTGTGGACCTCGCGACGGT	0.602											OREG0013456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	637	0.127196	0.115	0.147	5008	,	,		15523	0.0179		0.2773	False		,,,				2504	0.0879															0								T	PHE/LEU	604,3800	755.8+/-412.6	55,494,1653	29	30	30		52	2.9	0.1	1	dbSNP_127	30	2510,6088	680.6+/-403.7	367,1776,2156	yes	missense	NSUN4	NM_199044.2	22	422,2270,3809	TT,TC,CC		29.1928,13.7148,23.9502	benign	18/385	46806550	3114,9888	2202	4299	6501	SO:0001583	missense	387338			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.52C>T	1.37:g.46806550C>T	ENSP00000419740:p.Leu18Phe	942	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	CCDS534.1	338	0.15476190476190477	59	0.11991869918699187	60	0.16574585635359115	11	0.019230769230769232	208	0.27440633245382584	T	5.578	0.291507	0.10567	0.137148	0.291928	ENSG00000117481	ENST00000474844	T	0.15017	2.46	4.09	2.93	0.34026	.	0.748109	0.13086	N	0.414936	T	0.00012	0.0000	N	0.08118	0	0.51767	P	6.700000000003925E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.46289	-0.9202	9	0.08179	T	0.78	-0.8149	4.8239	0.13407	0.0:0.4319:0.0:0.5681	rs41293277	18	Q96CB9	NSUN4_HUMAN	F	18	ENSP00000419740:L18F	ENSP00000419740:L18F	L	+	1	0	NSUN4	46579137	0.005000	0.15991	0.105000	0.21289	0.096000	0.18686	0.284000	0.18864	0.630000	0.30394	-0.490000	0.04691	CTC		0.602	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		T	46806550	C	T	46806550	3	4	505	1	0	0	0	0	1	0	0	0	10682	681	24	2	54	2	NSUN4	1	46806550	Missense_Mutation	SNP	C	TCGA-CJ-4876-01A-01D-1373-10	1600933	46806550	202444071	2	27314											
BRDT	676	hgsc.bcm.edu;ucsc.edu	37	1	92442700	92442700	+	Missense_Mutation	SNP	T	T	C	rs192529642	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr1:92442700T>C	ENST00000362005.3	+	7	1137	c.719T>C	c.(718-720)gTg>gCg	p.V240A	BRDT_ENST00000399546.2_Missense_Mutation_p.V240A|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000402388.1_Missense_Mutation_p.V240A|BRDT_ENST00000394530.3_Missense_Mutation_p.V194A|BRDT_ENST00000370389.2_Missense_Mutation_p.V167A	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	240					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GAAAAATCAGTGGCACTGCCA	0.358													T|||	4	0.000798722	0.0	0.0058	5008	,	,		18969	0.0		0.0	False		,,,				2504	0.0															0													60	58	59					1																	92442700		2203	4300	6503	SO:0001583	missense	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.719T>C	1.37:g.92442700T>C	ENSP00000354568:p.Val240Ala		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	T	0.004	-2.270946	0.00257	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.08282	3.43;3.45;3.43;3.49;3.11;3.43	5.34	-5.63	0.02474	.	1.294840	0.05209	N	0.506391	T	0.00468	0.0015	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.45175	-0.9279	10	0.02654	T	1	7.3475	4.6439	0.12563	0.0947:0.4401:0.2084:0.2568	.	194;194;244;240	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	A	240;167;240;240;194;240;240	ENSP00000354568:V240A;ENSP00000359416:V167A;ENSP00000387822:V240A;ENSP00000378038:V194A;ENSP00000404969:V240A;ENSP00000384051:V240A	ENSP00000354568:V240A	V	+	2	0	BRDT	92215288	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.026000	0.13599	-0.838000	0.04218	-1.119000	0.02030	GTG		0.358	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		C	92442700	T	C	92442700	3	2	505	1	0	0	0	0	1	0	0	0	1510	1696	59	3	737	3	BRDT	1	92442700	Missense_Mutation	SNP	T	TCGA-CJ-4876-01A-01D-1373-10	45636150	92442700	156807921	3	27315											
FRRS1	391059	hgsc.bcm.edu;ucsc.edu	37	1	100214290	100214290	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr1:100214290A>C	ENST00000414213.1	-	3	636	c.35T>G	c.(34-36)aTa>aGa	p.I12R	FRRS1_ENST00000287474.5_Missense_Mutation_p.I12R			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	12						integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CAACAGAAGTATGCAGGTACC	0.358																																																0													130	114	119					1																	100214290		2203	4300	6503	SO:0001583	missense	391059			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.35T>G	1.37:g.100214290A>C	ENSP00000393884:p.Ile12Arg		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37		.	.	.	.	.	.	.	.	.	.	A	10.47	1.358120	0.24598	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.75	3.44	0.39384	.	0.603818	0.16521	N	0.210791	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	P	0.47604	0.898	P	0.49799	0.622	T	0.06215	-1.0839	9	0.72032	D	0.01	-8.0179	9.9335	0.41537	0.8604:0.0:0.1396:0.0	.	12	Q6ZNA5-2	.	R	12	.	ENSP00000287474:I12R	I	-	2	0	FRRS1	99986878	0.010000	0.17322	0.000000	0.03702	0.004000	0.04260	2.592000	0.46171	0.443000	0.26582	-0.400000	0.06385	ATA		0.358	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		C	100214290	A	C	100214290	3	2	505	1	0	0	0	0	1	0	0	0	6062	449	16	5	1905	5	FRRS1	1	100214290	Missense_Mutation	SNP	A	TCGA-CJ-4876-01A-01D-1373-10	7771590	100214290	149036331	4	27316											
IPO9	55705	hgsc.bcm.edu	37	1	201827588	201827588	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr1:201827588A>G	ENST00000361565.4	+	12	1304	c.1235A>G	c.(1234-1236)gAt>gGt	p.D412G		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	412					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGGCCACAGATTTCCAGAAT	0.443																																																0													74	85	81					1																	201827588		2202	4300	6502	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1235A>G	1.37:g.201827588A>G	ENSP00000354742:p.Asp412Gly		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.564532	0.27915	.	.	ENSG00000198700	ENST00000361565	T	0.65549	-0.16	5.54	4.42	0.53409	Armadillo-like helical (1);Armadillo-type fold (1);	0.142348	0.64402	D	0.000005	T	0.46210	0.1381	L	0.29908	0.895	0.53688	D	0.999979	B	0.15930	0.015	B	0.16289	0.015	T	0.26710	-1.0095	10	0.18710	T	0.47	-1.4069	9.6024	0.39612	0.9168:0.0:0.0832:0.0	.	412	Q96P70	IPO9_HUMAN	G	412	ENSP00000354742:D412G	ENSP00000354742:D412G	D	+	2	0	IPO9	200094211	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	8.763000	0.91715	0.924000	0.37069	-0.385000	0.06624	GAT		0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		G	201827588	A	G	201827588	3	3	505	1	0	0	0	0	1	0	0	0	7801	333	12	3	1281	3	IPO9	1	201827588	Missense_Mutation	SNP	A	TCGA-CJ-4876-01A-01D-1373-10	101613298	201827588	47423033	5	27317											
CUL3	8452	hgsc.bcm.edu;ucsc.edu	37	2	225379414	225379414	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr2:225379414C>T	ENST00000264414.4	-	4	792	c.454G>A	c.(454-456)Gta>Ata	p.V152I	CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Missense_Mutation_p.V128I|CUL3_ENST00000344951.4_Missense_Mutation_p.V86I|CUL3_ENST00000409096.1_Missense_Mutation_p.V128I	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	152					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCATAACGTACAACTTGATCT	0.363																																																0													161	140	147					2																	225379414		2203	4300	6503	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.454G>A	2.37:g.225379414C>T	ENSP00000264414:p.Val152Ile		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.149136|3.149136	0.57151|0.57151	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000436172|ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.|T;T;T;T	.|0.28895	.|1.59;1.59;1.59;1.59	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.16656|0.16656	0.425|0.425	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.28233	.|0.204;0.017;0.017	.|B;B;B	.|0.27262	.|0.046;0.078;0.078	T|T	0.07366|0.07366	-1.0776|-1.0776	5|10	.|0.13470	.|T	.|0.59	.|.	20.6397|20.6397	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|86;130;152	.|Q13618-3;Q53S54;Q13618	.|.;.;CUL3_HUMAN	Y|I	172|152;86;128;128	.|ENSP00000264414:V152I;ENSP00000343601:V86I;ENSP00000387200:V128I;ENSP00000386525:V128I	.|ENSP00000264414:V152I	C|V	-|-	2|1	0|0	CUL3|CUL3	225087658|225087658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.909000|4.909000	0.63314|0.63314	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	TGT|GTA		0.363	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			T	225379414	C	T	225379414	3	4	505	1	0	0	0	0	1	0	0	0	4058	478	17	2	1904	2	CUL3	2	225379414	Missense_Mutation	SNP	C	TCGA-CJ-4876-01A-01D-1373-10		225379414	17819959	6	27318											
C2orf85	285093	hgsc.bcm.edu	37	2	242815059	242815059	+	Missense_Mutation	SNP	C	C	T	rs28368764	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr2:242815059C>T	ENST00000343216.3	+	2	1380	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V		NM_173821.2	NP_776182.2																					CTGGTCACCGCGGGTCACGAC	0.592													C|||	750	0.14976	0.0023	0.2349	5008	,	,		19342	0.4901		0.0179	False		,,,				2504	0.0736															0								C	VAL/ALA	53,4061		0,53,2004	50	57	55		1352	-1.8	0	2	dbSNP_125	55	114,8222		0,114,4054	yes	missense	C2orf85	NM_173821.2	64	0,167,6058	TT,TC,CC		1.3676,1.2883,1.3414	possibly-damaging	451/573	242815059	167,12283	2057	4168	6225	SO:0001583	missense	0																														ENST00000343216.3:c.1352C>T	2.37:g.242815059C>T	ENSP00000345374:p.Ala451Val			Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	372	0.17032967032967034	0	0.0	68	0.1878453038674033	289	0.5052447552447552	15	0.01978891820580475	.	13.01	2.109133	0.37242	0.012883	0.013676	ENSG00000188011	ENST00000343216	T	0.25749	1.78	1.89	-1.84	0.07809	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.62365	0.991	P	0.47346	0.544	T	0.44283	-0.9338	8	0.42905	T	0.14	.	4.2076	0.10497	0.4499:0.3278:0.2223:0.0	rs28368764	451	Q14D33	CB085_HUMAN	V	451	ENSP00000345374:A451V	ENSP00000345374:A451V	A	+	2	0	C2orf85	242463732	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.343000	0.07791	-0.496000	0.06650	0.306000	0.20318	GCG		0.592	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			T	242815059	C	T	242815059	3	4	505	1	0	0	0	0	1	0	0	0	2202	768	27	1	1358	1	C2orf85	2	242815059	Missense_Mutation	SNP	C	TCGA-CJ-4876-01A-01D-1373-10	17435645	242815059	384314	7	27319											
ITPR1	3708	hgsc.bcm.edu;ucsc.edu	37	3	4730230	4730230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr3:4730230C>T	ENST00000443694.2	+	28	3709	c.3709C>T	c.(3709-3711)Cag>Tag	p.Q1237*	ITPR1_ENST00000456211.2_Nonsense_Mutation_p.Q1228*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.Q1243*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.Q1243*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.Q1252*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.Q1237*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1252					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGAATTTTTGCAGAATTTCTG	0.468																																																0													120	118	119					3																	4730230		1904	4124	6028	SO:0001587	stop_gained	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3709C>T	3.37:g.4730230C>T	ENSP00000401671:p.Gln1237*		E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	44	10.686949	0.99450	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	19.1808	0.93622	0.0:1.0:0.0:0.0	.	.	.	.	X	1252;1237;1252;1243;1243;1228;1237	.	ENSP00000306253:Q1237X	Q	+	1	0	ITPR1	4705230	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.673000	0.83973	2.518000	0.84900	0.655000	0.94253	CAG		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		T	4730230	C	T	4730230	4	4	505	1	0	0	0	0	0	1	0	0	7922	711	25	2	3868	2	ITPR1	3	4730230	Nonsense_Mutation	SNP	C	TCGA-CJ-4876-01A-01D-1373-10		4730230	193292200	8	27320											
SMARCC1	6599	hgsc.bcm.edu;ucsc.edu	37	3	47712153	47712153	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr3:47712153G>C	ENST00000254480.5	-	19	2013	c.1894C>G	c.(1894-1896)Ctg>Gtg	p.L632V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	632	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTTACCTCCAGGAGTAGAAGG	0.383																																																0													125	108	114					3																	47712153		2203	4300	6503	SO:0001583	missense	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1894C>G	3.37:g.47712153G>C	ENSP00000254480:p.Leu632Val		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134420	0.56828	.	.	ENSG00000173473	ENST00000254480	T	0.37915	1.17	5.58	-1.21	0.09524	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.64402	D	0.000001	T	0.54498	0.1862	M	0.76838	2.35	0.53005	D	0.999964	D	0.89917	1.0	D	0.91635	0.999	T	0.56517	-0.7966	10	0.87932	D	0	-14.351	10.0569	0.42250	0.5931:0.0:0.4068:0.0	.	632	Q92922	SMRC1_HUMAN	V	632	ENSP00000254480:L632V	ENSP00000254480:L632V	L	-	1	2	SMARCC1	47687157	0.088000	0.21588	0.419000	0.26584	0.840000	0.47671	0.425000	0.21346	-0.132000	0.11557	-0.137000	0.14449	CTG		0.383	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			C	47712153	G	C	47712153	3	2	505	1	0	0	0	0	1	0	0	0	14781	991	35	4	1463	4	SMARCC1	3	47712153	Missense_Mutation	SNP	G	TCGA-CJ-4876-01A-01D-1373-10	42981923	47712153	150310277	9	27321											
APPL1	26060	hgsc.bcm.edu	37	3	57291024	57291024	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr3:57291024G>C	ENST00000288266.3	+	14	1339	c.1192G>C	c.(1192-1194)Gtc>Ctc	p.V398L		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	398	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TCTGGAAGCTGTCACTCCTTC	0.413																																																0													73	80	78					3																	57291024		2203	4300	6503	SO:0001583	missense	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1192G>C	3.37:g.57291024G>C	ENSP00000288266:p.Val398Leu		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091935	0.55968	.	.	ENSG00000157500	ENST00000288266	T	0.10288	2.89	5.74	3.97	0.46021	.	0.057235	0.64402	D	0.000001	T	0.28599	0.0708	M	0.71581	2.175	0.58432	D	0.999997	P;D	0.76494	0.942;0.999	P;D	0.68039	0.685;0.955	T	0.00942	-1.1506	10	0.41790	T	0.15	.	12.4324	0.55581	0.1355:0.0:0.8645:0.0	.	381;398	B4DQX8;Q9UKG1	.;DP13A_HUMAN	L	398	ENSP00000288266:V398L	ENSP00000288266:V398L	V	+	1	0	APPL1	57266064	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	4.890000	0.63178	0.793000	0.33875	-0.136000	0.14681	GTC		0.413	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		C	57291024	G	C	57291024	3	2	505	1	0	0	0	0	1	0	0	0	817	1377	48	4	1246	4	APPL1	3	57291024	Missense_Mutation	SNP	G	TCGA-CJ-4876-01A-01D-1373-10	9578871	57291024	140731406	10	27322											
AFF1	4299	hgsc.bcm.edu;ucsc.edu	37	4	88053496	88053496	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr4:88053496A>G	ENST00000307808.6	+	18	3646	c.3226A>G	c.(3226-3228)Act>Gct	p.T1076A	AFF1_ENST00000395146.4_Missense_Mutation_p.T1083A|AFF1_ENST00000544085.1_Missense_Mutation_p.T714A	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1076					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GTATTCTCGTACTCTTAATAA	0.378																																																0													104	100	101					4																	88053496		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3226A>G	4.37:g.88053496A>G	ENSP00000305689:p.Thr1076Ala		B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.725711	0.30593	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.65916	-0.18;-0.18;-0.18	5.41	0.0989	0.14500	.	0.358324	0.27323	N	0.019888	T	0.40909	0.1136	L	0.27975	0.815	0.36325	D	0.85851	B;B;B	0.22276	0.067;0.067;0.067	B;B;B	0.23419	0.046;0.046;0.046	T	0.12192	-1.0557	10	0.27785	T	0.31	-2.7575	4.8907	0.13726	0.6595:0.0:0.2152:0.1254	.	1083;1076;1076	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	A	1083;1076;714	ENSP00000378578:T1083A;ENSP00000305689:T1076A;ENSP00000440843:T714A	ENSP00000305689:T1076A	T	+	1	0	AFF1	88272520	0.919000	0.31177	0.029000	0.17559	0.282000	0.26991	2.208000	0.42797	-0.182000	0.10602	0.459000	0.35465	ACT		0.378	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		G	88053496	A	G	88053496	3	3	505	1	0	0	0	0	1	0	0	0	356	391	14	3	3338	3	AFF1	4	88053496	Missense_Mutation	SNP	A	TCGA-CJ-4876-01A-01D-1373-10		88053496	103100780	11	27323											
RAI14	26064	hgsc.bcm.edu;ucsc.edu	37	5	34824236	34824236	+	Silent	SNP	G	G	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr5:34824236G>C	ENST00000265109.3	+	15	2576	c.2289G>C	c.(2287-2289)gtG>gtC	p.V763V	RAI14_ENST00000515799.1_Silent_p.V766V|RAI14_ENST00000397449.1_Silent_p.V756V|RAI14_ENST00000506376.1_Silent_p.V755V|RAI14_ENST00000503673.1_Silent_p.V763V|RAI14_ENST00000428746.2_Silent_p.V763V|RAI14_ENST00000512629.1_Silent_p.V734V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	763						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GCAAGGAAGTGGAAGTAGCAA	0.428																																																0													85	84	84					5																	34824236		2203	4300	6503	SO:0001819	synonymous_variant	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2289G>C	5.37:g.34824236G>C			E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.428	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		C	34824236	G	C	34824236	2	2	505	1	0	0	0	0	0	0	0	1	13014	1335	47	4		4	RAI14	5	34824236	Silent	SNP	G	TCGA-CJ-4876-01A-01D-1373-10		34824236	146091024	12	27324											
LMNB1	4001	hgsc.bcm.edu;ucsc.edu	37	5	126154654	126154654	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr5:126154654T>C	ENST00000261366.5	+	6	1341	c.980T>C	c.(979-981)tTg>tCg	p.L327S	LMNB1_ENST00000395354.1_Missense_Mutation_p.L327S|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	327	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TTAGAGGACTTGCTTGCTAAA	0.408																																																0													108	110	109					5																	126154654		2203	4300	6503	SO:0001583	missense	4001			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"Intermediate filaments type V, lamins"	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.980T>C	5.37:g.126154654T>C	ENSP00000261366:p.Leu327Ser		B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	T	5.146	0.212580	0.09757	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.88124	-2.34;-2.34	5.74	4.56	0.56223	Filament (1);	0.787115	0.11593	N	0.548468	T	0.72244	0.3436	N	0.05487	-0.04	0.22142	N	0.999339	B	0.10296	0.003	B	0.16722	0.016	T	0.56792	-0.7920	10	0.10636	T	0.68	.	8.2644	0.31804	0.0:0.0662:0.2517:0.6821	.	327	P20700	LMNB1_HUMAN	S	327	ENSP00000261366:L327S;ENSP00000378761:L327S	ENSP00000261366:L327S	L	+	2	0	LMNB1	126182553	0.564000	0.26602	0.999000	0.59377	0.928000	0.56348	1.106000	0.31098	1.085000	0.41206	0.460000	0.39030	TTG		0.408	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		C	126154654	T	C	126154654	3	2	505	1	0	0	0	0	1	0	0	0	8851	1821	63	3	1002	3	LMNB1	5	126154654	Missense_Mutation	SNP	T	TCGA-CJ-4876-01A-01D-1373-10	91330418	126154654	54760606	13	27325											
IL9	3578	hgsc.bcm.edu	37	5	135228122	135228122	+	Silent	SNP	A	A	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr5:135228122A>G	ENST00000274520.1	-	5	403	c.393T>C	c.(391-393)atT>atC	p.I131I		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	131					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)		p.I131I(1)		large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTCTGGAAAATTTCCAGAA	0.368																																																1	Substitution - coding silent(1)	large_intestine(1)											66	73	70					5																	135228122		2203	4300	6503	SO:0001819	synonymous_variant	3578			S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"Interleukins and interleukin receptors"	6029	protein-coding gene	gene with protein product	"p40 T-cell and mast cell growth factor", "T-cell growth factor p40", "p40 cytokine", "homolog of mouse T cell and mast cell growth factor 40"	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.393T>C	5.37:g.135228122A>G				Silent	SNP	ENST00000274520.1	37	CCDS4189.1																																																																																				0.368	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		G	135228122	A	G	135228122	2	3	505	1	0	0	0	0	0	0	0	1	7709	10	1	3		3	IL9	5	135228122	Silent	SNP	A	TCGA-CJ-4876-01A-01D-1373-10	9073468	135228122	45687138	14	27326											
RUNX2	860	hgsc.bcm.edu	37	6	45514873	45514873	+	Missense_Mutation	SNP	C	C	A	rs144852234		TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr6:45514873C>A	ENST00000371438.1	+	8	1755	c.1397C>A	c.(1396-1398)cCt>cAt	p.P466H	RUNX2_ENST00000541979.1_Missense_Mutation_p.P512H|RUNX2_ENST00000352853.5_Missense_Mutation_p.P534H|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000359524.5_Missense_Mutation_p.P452H|RUNX2_ENST00000371432.3_Missense_Mutation_p.P430H|RUNX2_ENST00000465038.2_Missense_Mutation_p.P466H|RUNX2_ENST00000371436.6_Missense_Mutation_p.P444H	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	466	Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P466L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GACCGGTCTCCTTCCAGAATG	0.532																																																1	Substitution - Missense(1)	skin(1)											92	84	87					6																	45514873		2203	4300	6503	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1397C>A	6.37:g.45514873C>A	ENSP00000360493:p.Pro466His		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895753	0.72639	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.77	5.77	0.91146	Runx inhibition (1);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.72004	-0.4421	10	0.87932	D	0	-6.17	20.3627	0.98863	0.0:1.0:0.0:0.0	.	512;466;452	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	H	466;534;512;466;444;452;430	ENSP00000420707:P466H;ENSP00000319087:P534H;ENSP00000446290:P512H;ENSP00000360493:P466H;ENSP00000360491:P444H;ENSP00000352514:P452H;ENSP00000360486:P430H	ENSP00000319087:P534H	P	+	2	0	RUNX2	45622851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	CCT		0.532	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		A	45514873	C	A	45514873	3	1	505	1	0	0	0	0	1	0	0	0	13754	681	24	4	1443	4	RUNX2	6	45514873	Missense_Mutation	SNP	C	TCGA-CJ-4876-01A-01D-1373-10		45514873	125600194	15	27327											
GOPC	57120	hgsc.bcm.edu;ucsc.edu	37	6	117900162	117900162	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr6:117900162T>A	ENST00000368498.2	-	2	426	c.351A>T	c.(349-351)aaA>aaT	p.K117N	GOPC_ENST00000052569.6_Missense_Mutation_p.K117N|GOPC_ENST00000535237.1_Missense_Mutation_p.K117N	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	117					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)	p.K117N(1)	GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CATGTACTTCTTTCTCCAAAA	0.398			O	ROS1	glioblastoma																																		Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	1	Substitution - Missense(1)	ovary(1)											116	106	109					6																	117900162		2203	4299	6502	SO:0001583	missense	57120			AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.351A>T	6.37:g.117900162T>A	ENSP00000357484:p.Lys117Asn		A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024507	0.54683	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	D;D;T	0.85013	-1.93;-1.93;2.25	5.71	3.24	0.37175	.	0.129537	0.64402	D	0.000001	T	0.68265	0.2982	L	0.50333	1.59	0.48901	D	0.999724	B;B	0.34290	0.447;0.319	B;B	0.32090	0.14;0.066	T	0.66496	-0.5909	10	0.52906	T	0.07	-19.6115	8.4922	0.33106	0.0:0.3063:0.0:0.6937	.	117;117	Q9HD26-2;Q9HD26	.;GOPC_HUMAN	N	117	ENSP00000052569:K117N;ENSP00000357484:K117N;ENSP00000445690:K117N	ENSP00000052569:K117N	K	-	3	2	GOPC	118006855	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.572000	0.23684	0.400000	0.25396	0.477000	0.44152	AAA		0.398	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		A	117900162	T	A	117900162	3	1	505	1	0	0	0	0	1	0	0	0	6575	1606	56	5	1069	5	GOPC	6	117900162	Missense_Mutation	SNP	T	TCGA-CJ-4876-01A-01D-1373-10	72385289	117900162	53214905	16	27328											
DNAH11	8701	hgsc.bcm.edu	37	7	21742417	21742417	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr7:21742417T>G	ENST00000409508.3	+	37	6301	c.6270T>G	c.(6268-6270)gaT>gaG	p.D2090E	DNAH11_ENST00000328843.6_Missense_Mutation_p.D2097E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2097					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACCCGAAGATCAGGTACTGC	0.443									Kartagener syndrome																																							0													95	89	91					7																	21742417		1925	4149	6074	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6270T>G	7.37:g.21742417T>G	ENSP00000475939:p.Asp2090Glu		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	T	10.80	1.452016	0.26074	.	.	ENSG00000105877	ENST00000328843	T	0.47177	0.85	5.33	-1.22	0.09494	.	0.633919	0.16408	N	0.215710	T	0.25680	0.0625	.	.	.	0.33315	D	0.566549	B	0.19331	0.035	B	0.13407	0.009	T	0.38672	-0.9650	9	0.09590	T	0.72	.	12.1759	0.54186	0.0:0.3589:0.0:0.6411	.	2097	Q96DT5	DYH11_HUMAN	E	2097	ENSP00000330671:D2097E	ENSP00000330671:D2097E	D	+	3	2	DNAH11	21708942	0.569000	0.26643	0.997000	0.53966	0.405000	0.30901	-0.265000	0.08644	-0.115000	0.11915	0.533000	0.62120	GAT		0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		G	21742417	T	G	21742417	3	3	505	1	0	0	0	0	1	0	0	0	4601	1432	50	5	6438	5	DNAH11	7	21742417	Missense_Mutation	SNP	T	TCGA-CJ-4876-01A-01D-1373-10		21742417	137396246	17	27329											
TECPR1	25851	hgsc.bcm.edu	37	7	97870246	97870246	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr7:97870246C>A	ENST00000447648.2	-	8	1149	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L	TECPR1_ENST00000379795.3_Missense_Mutation_p.V284L|TECPR1_ENST00000542604.1_Missense_Mutation_p.V214L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	284					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.V284M(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGGCTCCACGATGGACCAG	0.617																																																1	Substitution - Missense(1)	endometrium(1)											26	32	30					7																	97870246		2197	4295	6492	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.850G>T	7.37:g.97870246C>A	ENSP00000404923:p.Val284Leu		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008424	0.35415	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.36157	1.28;1.27;1.32	5.15	4.27	0.50696	.	0.058519	0.64402	D	0.000002	T	0.40247	0.1109	M	0.69823	2.125	0.47341	D	0.999395	P;B	0.39862	0.692;0.127	B;B	0.39465	0.3;0.247	T	0.42258	-0.9462	10	0.66056	D	0.02	-15.8993	12.7119	0.57094	0.0:0.9205:0.0:0.0795	.	214;284	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	L	284;284;214	ENSP00000404923:V284L;ENSP00000369121:V284L;ENSP00000441121:V214L	ENSP00000369121:V284L	V	-	1	0	TECPR1	97708182	1.000000	0.71417	0.783000	0.31826	0.012000	0.07955	5.771000	0.68881	1.176000	0.42840	0.555000	0.69702	GTG		0.617	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		A	97870246	C	A	97870246	3	1	505	1	0	0	0	0	1	0	0	0	15748	536	19	4	2723	4	TECPR1	7	97870246	Missense_Mutation	SNP	C	TCGA-CJ-4876-01A-01D-1373-10	76127829	97870246	61268417	18	27330											
EPHA1	2041	hgsc.bcm.edu;ucsc.edu	37	7	143090819	143090819	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr7:143090819C>G	ENST00000275815.3	-	16	2727	c.2641G>C	c.(2641-2643)Gag>Cag	p.E881Q	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	881	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGCAGTTGCTCCAGATGTGCC	0.597																																																0													86	76	79					7																	143090819		2203	4300	6503	SO:0001583	missense	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2641G>C	7.37:g.143090819C>G	ENSP00000275815:p.Glu881Gln		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476811	0.63849	.	.	ENSG00000146904	ENST00000275815	T	0.63096	-0.02	5.16	5.16	0.70880	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.332110	0.25674	N	0.029047	T	0.54382	0.1855	L	0.37630	1.12	0.45452	D	0.998423	B	0.17038	0.02	B	0.15484	0.013	T	0.54241	-0.8323	10	0.87932	D	0	.	15.5018	0.75705	0.0:0.8518:0.1482:0.0	.	881	P21709	EPHA1_HUMAN	Q	881	ENSP00000275815:E881Q	ENSP00000275815:E881Q	E	-	1	0	EPHA1	142800941	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.917000	0.63369	2.696000	0.92011	0.655000	0.94253	GAG		0.597	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			G	143090819	C	G	143090819	3	3	505	1	0	0	0	0	1	0	0	0	5167	864	30	4	301	4	EPHA1	7	143090819	Missense_Mutation	SNP	C	TCGA-CJ-4876-01A-01D-1373-10	45220573	143090819	16047844	19	27331											
GAPVD1	26130	hgsc.bcm.edu;ucsc.edu	37	9	128069788	128069788	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr9:128069788A>G	ENST00000495955.1	+	7	1503	c.1213A>G	c.(1213-1215)Act>Gct	p.T405A	GAPVD1_ENST00000394084.1_Missense_Mutation_p.T405A|GAPVD1_ENST00000394105.2_Missense_Mutation_p.T405A|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T405A|GAPVD1_ENST00000312123.9_Missense_Mutation_p.T405A|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T405A|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T405A|GAPVD1_ENST00000470056.1_Missense_Mutation_p.T405A|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T405A			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	405					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATTGAGCAGAACTGTGGTTTA	0.443																																																0													58	57	57					9																	128069788		2203	4300	6503	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1213A>G	9.37:g.128069788A>G	ENSP00000419063:p.Thr405Ala		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.799252|4.799252	0.90538|0.90538	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|D;D;D;D;D;D;D;D;D;D	.|0.82167	.|-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84266|0.84266	0.5434|0.5434	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D;D;B	.|0.61697	.|0.974;0.956;0.974;0.974;0.974;0.99;0.342	.|D;D;D;D;D;D;B	.|0.72982	.|0.969;0.931;0.953;0.953;0.969;0.979;0.066	D|D	0.85590|0.85590	0.1245|0.1245	5|10	.|0.48119	.|T	.|0.1	.|.	14.7549|14.7549	0.69557|0.69557	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|405;405;405;405;405;405;405	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65	.|.;GAPD1_HUMAN;.;.;.;.;.	S|A	235|405	.|ENSP00000377646:T405A;ENSP00000419767:T405A;ENSP00000377665:T405A;ENSP00000377664:T405A;ENSP00000265956:T405A;ENSP00000377645:T405A;ENSP00000419063:T405A;ENSP00000418747:T405A;ENSP00000297933:T405A;ENSP00000309582:T405A	.|ENSP00000265956:T405A	N|T	+|+	2|1	0|0	GAPVD1|GAPVD1	127109609|127109609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.062000|9.062000	0.93920|0.93920	2.139000|2.139000	0.66308|0.66308	0.460000|0.460000	0.39030|0.39030	AAC|ACT		0.443	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			G	128069788	A	G	128069788	3	3	505	1	0	0	0	0	1	0	0	0	6241	43	2	3	1227	3	GAPVD1	9	128069788	Missense_Mutation	SNP	A	TCGA-CJ-4876-01A-01D-1373-10		128069788	13143643	20	27332											
KIF20B	9585	hgsc.bcm.edu	37	10	91469727	91469727	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr10:91469727G>C	ENST00000371728.3	+	5	460	c.395G>C	c.(394-396)tGc>tCc	p.C132S	KIF20B_ENST00000416354.1_Missense_Mutation_p.C132S|KIF20B_ENST00000260753.4_Missense_Mutation_p.C132S|KIF20B_ENST00000394289.2_Missense_Mutation_p.C132S	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	132	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTTCAGGGTTGCATTATGCAA	0.333																																																0													66	74	71					10																	91469727		2203	4300	6503	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.395G>C	10.37:g.91469727G>C	ENSP00000360793:p.Cys132Ser		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	12.32	1.901186	0.33535	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;2.37	5.66	5.66	0.87406	Kinesin, motor domain (4);	0.122674	0.37483	N	0.002073	T	0.47728	0.1461	N	0.03891	-0.335	0.42926	D	0.994303	B;B	0.20887	0.049;0.019	B;B	0.22880	0.042;0.033	T	0.47548	-0.9109	10	0.18710	T	0.47	-3.9143	14.2319	0.65898	0.0:0.2669:0.7331:0.0	.	132;132	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	S	132	ENSP00000260753:C132S;ENSP00000411545:C132S;ENSP00000377830:C132S;ENSP00000360793:C132S;ENSP00000390946:C132S	ENSP00000260753:C132S	C	+	2	0	KIF20B	91459707	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.219000	0.72231	2.653000	0.90120	0.655000	0.94253	TGC		0.333	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		C	91469727	G	C	91469727	3	2	505	1	0	0	0	0	1	0	0	0	8289	1319	46	4	409	4	KIF20B	10	91469727	Missense_Mutation	SNP	G	TCGA-CJ-4876-01A-01D-1373-10		91469727	44065020	21	27333											
CCDC87	55231	hgsc.bcm.edu	37	11	66359725	66359725	+	Silent	SNP	G	G	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr11:66359725G>A	ENST00000333861.3	-	1	829	c.762C>T	c.(760-762)tcC>tcT	p.S254S	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	254					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACCGAGGGATGGACTTCAATT	0.502																																																0													87	73	78					11																	66359725		2200	4295	6495	SO:0001819	synonymous_variant	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.762C>T	11.37:g.66359725G>A			Q8NE76	Silent	SNP	ENST00000333861.3	37	CCDS8145.1																																																																																				0.502	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		A	66359725	G	A	66359725	2	1	505	1	0	0	0	0	0	0	0	1	2864	1335	47	2		2	CCDC87	11	66359725	Silent	SNP	G	TCGA-CJ-4876-01A-01D-1373-10		66359725	68646791	22	27334											
LRRK2	120892	hgsc.bcm.edu;ucsc.edu	37	12	40714842	40714844	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr12:40714842_40714844delTGA	ENST00000298910.7	+	35	5080_5082	c.5022_5024delTGA	c.(5020-5025)tctgac>tcc	p.D1675del		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1675					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTAGTTTGTCTGACCACAGGCCT	0.384																																																0																																										SO:0001651	inframe_deletion	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5022_5024delTGA	12.37:g.40714842_40714844delTGA	ENSP00000298910:p.Asp1675del		A6NJU2|Q6ZS50|Q8NCX9	In_Frame_Del	DEL	ENST00000298910.7	37	CCDS31774.1																																																																																				0.384	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		-	40714844	TGA	-	40714842	7	5	505	1	0	1	0	1	0	0	0	0	9035	1567	55	0	5160	0	LRRK2	12	40714842	In_Frame_Del	DEL	TGA	TCGA-CJ-4876-01A-01D-1373-10		40714842	93137053	23	27335											
SOHLH2	54937	hgsc.bcm.edu;ucsc.edu	37	13	36748941	36748941	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr13:36748941T>C	ENST00000379881.3	-	7	795	c.707A>G	c.(706-708)aAt>aGt	p.N236S	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.N313S|SOHLH2_ENST00000554962.1_Missense_Mutation_p.N313S	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	236	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AGCCGCATCATTCTTTCTCCC	0.418																																																0													88	85	86					13																	36748941		2203	4300	6503	SO:0001583	missense	54937			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.707A>G	13.37:g.36748941T>C	ENSP00000369210:p.Asn236Ser		B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.398430	0.25205	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	D;D;D	0.97941	-4.62;-4.62;-4.62	5.11	2.71	0.32032	Helix-loop-helix DNA-binding (5);	0.171970	0.41396	N	0.000896	D	0.91294	0.7255	N	0.05534	-0.03	0.23747	N	0.996951	P;P	0.42735	0.648;0.788	B;B	0.40285	0.205;0.325	D	0.86127	0.1572	10	0.30854	T	0.27	1.6013	6.1622	0.20370	0.0:0.2111:0.0:0.7889	.	313;236	B4DX90;Q9NX45	.;SOLH2_HUMAN	S	236;313;313	ENSP00000369210:N236S;ENSP00000451542:N313S;ENSP00000421868:N313S	ENSP00000421868:N313S	N	-	2	0	CCDC169-SOHLH2;SOHLH2	35646941	0.999000	0.42202	0.889000	0.34880	0.051000	0.14879	1.101000	0.31037	0.307000	0.22880	0.528000	0.53228	AAT		0.418	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		C	36748941	T	C	36748941	3	2	505	1	0	0	0	0	1	0	0	0	14930	1493	52	3	590	3	SOHLH2	13	36748941	Missense_Mutation	SNP	T	TCGA-CJ-4876-01A-01D-1373-10		36748941	78420937	24	27336											
HEATR5A	25938	hgsc.bcm.edu;ucsc.edu	37	14	31819067	31819067	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr14:31819067G>A	ENST00000389961.3	-	17	2617	c.2618C>T	c.(2617-2619)tCa>tTa	p.S873L	HEATR5A_ENST00000543095.2_Missense_Mutation_p.S879L|HEATR5A_ENST00000439348.1_Missense_Mutation_p.S873L|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S586L|HEATR5A_ENST00000404677.3_Missense_Mutation_p.S879L			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	873										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCTAGCCCATGACTCTGCAGC	0.418																																																0													54	53	53					14																	31819067		1887	4120	6007	SO:0001583	missense	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2618C>T	14.37:g.31819067G>A	ENSP00000374611:p.Ser873Leu		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.81|14.81	2.646803|2.646803	0.47258|0.47258	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.64085	.|-0.08;-0.08;-0.08;-0.08;-0.08	5.48|5.48	4.54|4.54	0.55810|0.55810	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.410133	.|0.25997	.|N	.|0.026977	T|T	0.55545|0.55545	0.1927|0.1927	L|L	0.34521|0.34521	1.04|1.04	0.28370|0.28370	N|N	0.920037|0.920037	.|B;B;B	.|0.23650	.|0.089;0.032;0.015	.|B;B;B	.|0.25405	.|0.046;0.038;0.06	T|T	0.58244|0.58244	-0.7670|-0.7670	5|10	.|0.87932	.|D	.|0	.|.	18.5929|18.5929	0.91220|0.91220	0.0:0.16:0.8399:0.0|0.0:0.16:0.8399:0.0	.|.	.|879;873;873	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	Y|L	507|873;873;586;879;879	.|ENSP00000374611:S873L;ENSP00000405407:S873L;ENSP00000408681:S586L;ENSP00000437968:S879L;ENSP00000384646:S879L	.|ENSP00000374611:S873L	H|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30888818|30888818	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.810000|0.810000	0.45777|0.45777	2.594000|2.594000	0.46189|0.46189	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.418	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		A	31819067	G	A	31819067	3	1	505	1	0	0	0	0	1	0	0	0	7033	1294	45	2	3580	2	HEATR5A	14	31819067	Missense_Mutation	SNP	G	TCGA-CJ-4876-01A-01D-1373-10		31819067	75530473	25	27337											
TRAF3	7187	hgsc.bcm.edu	37	14	103357741	103357741	+	Missense_Mutation	SNP	C	C	G	rs369640883	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr14:103357741C>G	ENST00000560371.1	+	8	1023	c.806C>G	c.(805-807)tCg>tGg	p.S269W	TRAF3_ENST00000351691.5_Missense_Mutation_p.S244W|TRAF3_ENST00000347662.4_Missense_Mutation_p.S244W|TRAF3_ENST00000539721.1_Intron|TRAF3_ENST00000392745.2_Missense_Mutation_p.S269W	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	269					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S269L(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TGGAGCAACTCGCTCGAAAAG	0.493																																																1	Substitution - Missense(1)	breast(1)											64	51	55					14																	103357741		2203	4299	6502	SO:0001583	missense	7187			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.806C>G	14.37:g.103357741C>G	ENSP00000454207:p.Ser269Trp		B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357457	0.61293	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691	T;T	0.34859	1.34;1.34	5.87	5.87	0.94306	.	0.163089	0.43919	D	0.000505	T	0.27559	0.0677	N	0.14661	0.345	0.48452	D	0.999651	P;P	0.50943	0.94;0.895	P;B	0.46110	0.504;0.435	T	0.03315	-1.1049	10	0.66056	D	0.02	-29.4101	11.7621	0.51910	0.1372:0.7305:0.1323:0.0	.	244;269	A6NHG8;Q13114	.;TRAF3_HUMAN	W	269;244;269	ENSP00000376500:S269W;ENSP00000328003:S244W	ENSP00000328003:S244W	S	+	2	0	TRAF3	102427494	1.000000	0.71417	0.843000	0.33291	0.846000	0.48090	2.371000	0.44248	2.941000	0.99782	0.655000	0.94253	TCG		0.493	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		G	103357741	C	G	103357741	3	3	505	1	0	0	0	0	1	0	0	0	16444	893	31	4	832	4	TRAF3	14	103357741	Missense_Mutation	SNP	C	TCGA-CJ-4876-01A-01D-1373-10	71538674	103357741	3991799	26	27338											
AKAP13	11214	hgsc.bcm.edu;ucsc.edu	37	15	86198698	86198698	+	Silent	SNP	C	C	T	rs369944508		TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr15:86198698C>T	ENST00000394518.2	+	11	4520	c.4425C>T	c.(4423-4425)acC>acT	p.T1475T	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.T1475T|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1475					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTTCATCCACCGATGACACGG	0.498																																					Melanoma(94;603 1453 3280 32295 32951)											0								C	,	0,4404		0,0,2202	97	83	87		4425,4425	-11.8	0.4	15		87	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	AKAP13	NM_006738.4,NM_007200.3	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	1475/2818,1475/2814	86198698	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4425C>T	15.37:g.86198698C>T			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	CCDS32319.1																																																																																				0.498	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		T	86198698	C	T	86198698	2	4	505	1	0	0	0	0	0	0	0	1	449	639	23	1		1	AKAP13	15	86198698	Silent	SNP	C	TCGA-CJ-4876-01A-01D-1373-10		86198698	16332694	27	27339											
TMEM186	25880	hgsc.bcm.edu	37	16	8889990	8889990	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr16:8889990G>T	ENST00000333050.6	-	2	494	c.461C>A	c.(460-462)aCa>aAa	p.T154K	PMM2_ENST00000566983.1_Intron|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000569958.1_5'Flank|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	154						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGGACAGTATGTGTCCTGCCG	0.542																																																0													106	97	100					16																	8889990		2197	4300	6497	SO:0001583	missense	25880			BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 51"	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.461C>A	16.37:g.8889990G>T	ENSP00000331640:p.Thr154Lys		B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724576	0.48833	.	.	ENSG00000184857	ENST00000333050	T	0.42513	0.97	5.28	4.32	0.51571	.	0.143293	0.31734	N	0.007154	T	0.42268	0.1195	M	0.77616	2.38	0.27921	N	0.938257	P	0.43701	0.815	B	0.40534	0.332	T	0.46610	-0.9179	10	0.44086	T	0.13	-5.7164	7.4506	0.27235	0.2545:0.0:0.7455:0.0	.	154	Q96B77	TM186_HUMAN	K	154	ENSP00000331640:T154K	ENSP00000331640:T154K	T	-	2	0	TMEM186	8797491	0.998000	0.40836	0.099000	0.21106	0.459000	0.32528	4.402000	0.59722	1.234000	0.43709	0.491000	0.48974	ACA		0.542	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		T	8889990	G	T	8889990	3	4	505	1	0	0	0	0	1	0	0	0	16113	1377	48	4	184	4	TMEM186	16	8889990	Missense_Mutation	SNP	G	TCGA-CJ-4876-01A-01D-1373-10		8889990	81464763	28	27340											
ZDHHC1	29800	hgsc.bcm.edu	37	16	67428940	67428940	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr16:67428940T>A	ENST00000348579.2	-	10	1536	c.1195A>T	c.(1195-1197)Aag>Tag	p.K399*	TPPP3_ENST00000290942.5_5'Flank|TPPP3_ENST00000562206.1_5'Flank|ZDHHC1_ENST00000566075.1_5'UTR|TPPP3_ENST00000393957.2_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	399					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CGTTCGCACTTTATACACGCG	0.627																																																0													22	27	25					16																	67428940		2197	4300	6497	SO:0001587	stop_gained	29800			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1195A>T	16.37:g.67428940T>A	ENSP00000340299:p.Lys399*		O15461	Nonsense_Mutation	SNP	ENST00000348579.2	37	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	T	36	5.798216	0.96952	.	.	ENSG00000159714	ENST00000348579	.	.	.	3.9	2.8	0.32819	.	10.119200	0.01542	U	0.019280	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4082	0.16332	0.0:0.1356:0.0:0.8644	.	.	.	.	X	399	.	ENSP00000340299:K399X	K	-	1	0	ZDHHC1	65986441	1.000000	0.71417	0.394000	0.26270	0.015000	0.08874	1.436000	0.34980	0.682000	0.31407	0.459000	0.35465	AAG		0.627	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		A	67428940	T	A	67428940	4	1	505	1	0	0	0	0	0	1	0	0	17605	1850	64	5	270	5	ZDHHC1	16	67428940	Nonsense_Mutation	SNP	T	TCGA-CJ-4876-01A-01D-1373-10	58538950	67428940	22925813	29	27341											
COG4	25839	hgsc.bcm.edu;ucsc.edu	37	16	70546246	70546246	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr16:70546246T>A	ENST00000323786.5	-	5	655	c.634A>T	c.(634-636)Aag>Tag	p.K212*	COG4_ENST00000564653.1_Intron|COG4_ENST00000393612.4_Nonsense_Mutation_p.K208*	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	208					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TCACCTTCCTTGGTGGCAATG	0.507																																																0													94	81	85					16																	70546246		2198	4300	6498	SO:0001587	stop_gained	25839			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.634A>T	16.37:g.70546246T>A	ENSP00000315775:p.Lys212*		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Nonsense_Mutation	SNP	ENST00000323786.5	37	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743250	0.69418	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	.	.	.	5.53	5.53	0.82687	.	0.141077	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9226	15.6678	0.77247	0.0:0.0:0.0:1.0	.	.	.	.	X	212;208;208;135	.	ENSP00000315775:K212X	K	-	1	0	COG4	69103747	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	3.783000	0.55409	2.108000	0.64289	0.533000	0.62120	AAG		0.507	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			A	70546246	T	A	70546246	4	1	505	1	0	0	0	0	0	1	0	0	3662	1821	63	5	1795	5	COG4	16	70546246	Nonsense_Mutation	SNP	T	TCGA-CJ-4876-01A-01D-1373-10	3117306	70546246	19808507	30	27342											
PIK3R5	23533	hgsc.bcm.edu	37	17	8791992	8791992	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr17:8791992A>C	ENST00000447110.1	-	10	1236	c.1112T>G	c.(1111-1113)cTc>cGc	p.L371R	PIK3R5_ENST00000581552.1_Missense_Mutation_p.L371R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.L371R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	371					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATGGCGCGAGAGGGCCGGCCC	0.637																																					NSCLC(18;589 615 7696 20311 50332)											0													65	69	68					17																	8791992		2203	4300	6503	SO:0001583	missense	23533			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1112T>G	17.37:g.8791992A>C	ENSP00000392812:p.Leu371Arg		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	A	8.924	0.961859	0.18583	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.82803	-1.65	5.51	5.51	0.81932	.	0.403824	0.25935	N	0.027350	D	0.83376	0.5241	N	0.24115	0.695	0.39711	D	0.971322	D	0.54397	0.966	P	0.58331	0.837	D	0.86648	0.1896	10	0.87932	D	0	-31.2461	15.2751	0.73737	1.0:0.0:0.0:0.0	.	371	Q8WYR1	PI3R5_HUMAN	R	371	ENSP00000392812:L371R	ENSP00000269300:L371R	L	-	2	0	PIK3R5	8732717	0.981000	0.34729	0.344000	0.25628	0.259000	0.26198	5.561000	0.67339	2.096000	0.63516	0.528000	0.53228	CTC		0.637	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		C	8791992	A	C	8791992	3	2	505	1	0	0	0	0	1	0	0	0	11924	304	11	5	1570	5	PIK3R5	17	8791992	Missense_Mutation	SNP	A	TCGA-CJ-4876-01A-01D-1373-10		8791992	72403218	31	27343											
MKS1	54903	hgsc.bcm.edu;ucsc.edu	37	17	56283700	56283700	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr17:56283700C>G	ENST00000393119.2	-	17	1606	c.1532G>C	c.(1531-1533)aGt>aCt	p.S511T	MKS1_ENST00000313863.6_Missense_Mutation_p.V439L|MKS1_ENST00000537529.2_Missense_Mutation_p.S501T|MKS1_ENST00000546108.1_Missense_Mutation_p.S308T|MKS1_ENST00000337050.7_Intron	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	511					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCAACACACTCCGCATCCT	0.607																																																0													121	127	125					17																	56283700		2037	4179	6216	SO:0001583	missense	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1532G>C	17.37:g.56283700C>G	ENSP00000376827:p.Ser511Thr		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.718|4.718	0.133561|0.133561	0.09032|0.09032	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000313863|ENST00000537529;ENST00000393119;ENST00000546108	.|T;T;T	.|0.74526	.|-0.37;-0.35;-0.85	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|0.348627	.|0.38381	.|N	.|0.001712	T|T	0.59905|0.59905	0.2228|0.2228	N|N	0.20530|0.20530	0.585|0.585	0.45261|0.45261	D|D	0.998269|0.998269	.|B	.|0.06786	.|0.001	.|B	.|0.10450	.|0.005	T|T	0.55192|0.55192	-0.8179|-0.8179	5|10	.|0.11794	.|T	.|0.64	-23.1717|-23.1717	16.9037|16.9037	0.86120|0.86120	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|511	.|Q9NXB0	.|MKS1_HUMAN	D|T	439|501;511;308	.|ENSP00000442096:S501T;ENSP00000376827:S511T;ENSP00000443012:S308T	.|ENSP00000376827:S511T	E|S	-|-	3|2	2|0	MKS1|MKS1	53638699|53638699	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.472000|0.472000	0.32918|0.32918	2.445000|2.445000	0.44899|0.44899	2.556000|2.556000	0.86216|0.86216	0.555000|0.555000	0.69702|0.69702	GAG|AGT		0.607	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		G	56283700	C	G	56283700	3	3	505	1	0	0	0	0	1	0	0	0	9611	565	20	4	155	4	MKS1	17	56283700	Missense_Mutation	SNP	C	TCGA-CJ-4876-01A-01D-1373-10	47491708	56283700	24911510	32	27344											
PRKCA	5578	hgsc.bcm.edu	37	17	64800059	64800059	+	Silent	SNP	T	T	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr17:64800059T>C	ENST00000413366.3	+	17	1949	c.1923T>C	c.(1921-1923)gaT>gaC	p.D641D		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	641	AGC-kinase C-terminal.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CACCACCTGATCAGCTGGTTA	0.458																																																0													158	131	140					17																	64800059		2203	4300	6503	SO:0001819	synonymous_variant	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1923T>C	17.37:g.64800059T>C			B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	CCDS11664.1																																																																																				0.458	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			C	64800059	T	C	64800059	2	2	505	1	0	0	0	0	0	0	0	1	12512	1432	50	3		3	PRKCA	17	64800059	Silent	SNP	T	TCGA-CJ-4876-01A-01D-1373-10	8516359	64800059	16395151	33	27345											
ST6GALNAC2	10610	hgsc.bcm.edu;ucsc.edu	37	17	74562266	74562266	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr17:74562266C>T	ENST00000225276.5	-	9	1364	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	349					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TCGTGGTTTGCATAAAATATC	0.502																																																0													166	144	151					17																	74562266		2203	4300	6503	SO:0001583	missense	10610			U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"Sialyltransferases"	10867	protein-coding gene	gene with protein product		610137	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)", "sialyltransferase-like 1"	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.1045G>A	17.37:g.74562266C>T	ENSP00000225276:p.Ala349Thr		Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	C	4.637	0.118501	0.08881	.	.	ENSG00000070731	ENST00000225276	T	0.31510	1.49	5.35	1.06	0.20224	.	0.470348	0.21448	N	0.074364	T	0.25419	0.0618	L	0.46885	1.475	0.09310	N	1	B	0.27625	0.183	B	0.37422	0.249	T	0.25950	-1.0117	10	0.19590	T	0.45	0.0255	5.3707	0.16138	0.1326:0.5707:0.0:0.2967	.	349	Q9UJ37	SIA7B_HUMAN	T	349	ENSP00000225276:A349T	ENSP00000225276:A349T	A	-	1	0	ST6GALNAC2	72073861	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	1.174000	0.31932	0.249000	0.21456	-0.169000	0.13324	GCA		0.502	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		T	74562266	C	T	74562266	3	4	505	1	0	0	0	0	1	0	0	0	15229	710	25	2	83	2	ST6GALNAC2	17	74562266	Missense_Mutation	SNP	C	TCGA-CJ-4876-01A-01D-1373-10	9762207	74562266	6632944	34	27346											
B4GALT6	9331	hgsc.bcm.edu;ucsc.edu	37	18	29218625	29218625	+	Silent	SNP	C	C	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr18:29218625C>T	ENST00000306851.5	-	5	866	c.570G>A	c.(568-570)gcG>gcA	p.A190A	B4GALT6_ENST00000383131.3_Intron|B4GALT6_ENST00000237019.7_Silent_p.A151A	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	190					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TGACATAAAACGCAAATTCCA	0.363																																																0													90	91	90					18																	29218625		2203	4300	6503	SO:0001819	synonymous_variant	9331			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"Beta 4-glycosyltransferases"	929	protein-coding gene	gene with protein product	"UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.570G>A	18.37:g.29218625C>T			O60514|Q6NT09	Silent	SNP	ENST00000306851.5	37	CCDS11900.1																																																																																				0.363	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		T	29218625	C	T	29218625	2	4	505	1	0	0	0	0	0	0	0	1	1275	523	19	1		1	B4GALT6	18	29218625	Silent	SNP	C	TCGA-CJ-4876-01A-01D-1373-10		29218625	48858623	35	27347											
KDM4B	23030	hgsc.bcm.edu	37	19	5077475	5077475	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr19:5077475C>A	ENST00000159111.4	+	8	992	c.774C>A	c.(772-774)ttC>ttA	p.F258L	KDM4B_ENST00000536461.1_Missense_Mutation_p.F258L|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.F258L	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	258	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGATCCCCTTCAGCCGGGTGC	0.622																																																0													86	86	86					19																	5077475		2203	4300	6503	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.774C>A	19.37:g.5077475C>A	ENSP00000159111:p.Phe258Leu		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582409	0.86748	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71222	-0.55;-0.55;-0.55	4.52	3.23	0.37069	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	M	0.72894	2.215	0.54753	D	0.999987	P;D;P	0.61697	0.782;0.99;0.818	B;P;P	0.62184	0.179;0.899;0.463	T	0.77547	-0.2547	10	0.66056	D	0.02	-36.0788	5.4235	0.16413	0.0:0.6613:0.0:0.3387	.	258;258;258	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	L	258	ENSP00000159111:F258L;ENSP00000371178:F258L;ENSP00000440495:F258L	ENSP00000159111:F258L	F	+	3	2	KDM4B	5028475	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.700000	0.47085	2.066000	0.61787	0.462000	0.41574	TTC		0.622	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		A	5077475	C	A	5077475	3	1	505	1	0	0	0	0	1	0	0	0	8131	825	29	4	796	4	KDM4B	19	5077475	Missense_Mutation	SNP	C	TCGA-CJ-4876-01A-01D-1373-10		5077475	54051508	36	27348											
TBCB	1155	hgsc.bcm.edu;ucsc.edu	37	19	36611673	36611673	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr19:36611673A>T	ENST00000221855.3	+	3	895	c.320A>T	c.(319-321)tAc>tTc	p.Y107F	TBCB_ENST00000589996.1_Missense_Mutation_p.Y107F|TBCB_ENST00000585746.1_Missense_Mutation_p.Y56F|TBCB_ENST00000586868.1_Intron|TBCB_ENST00000392178.4_3'UTR	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	107					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGGAGAAGTACACGATCTCA	0.637																																																0													90	71	78					19																	36611673		2203	4300	6503	SO:0001583	missense	1155			AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"cytoskeleton-associated protein 1", "cytoskeleton associated protein 1"	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.320A>T	19.37:g.36611673A>T	ENSP00000221855:p.Tyr107Phe		O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	ENST00000221855.3	37	CCDS12488.1	.	.	.	.	.	.	.	.	.	.	A	0.618	-0.822435	0.02755	.	.	ENSG00000105254	ENST00000221855;ENST00000392178	D	0.93133	-3.17	5.22	4.16	0.48862	Cytoskeleton-associated protein, Gly-rich domain (1);	0.254493	0.40064	N	0.001186	D	0.84844	0.5562	N	0.21194	0.64	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.77178	-0.2683	10	0.10636	T	0.68	-9.8456	8.4389	0.32803	0.8276:0.0:0.0:0.1724	.	56;107	Q6FGY5;Q99426	.;TBCB_HUMAN	F	107	ENSP00000221855:Y107F	ENSP00000221855:Y107F	Y	+	2	0	TBCB	41303513	0.065000	0.20965	0.982000	0.44146	0.135000	0.20990	0.376000	0.20535	1.983000	0.57843	0.368000	0.22195	TAC		0.637	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156291.2	NM_001281		T	36611673	A	T	36611673	3	4	505	1	0	0	0	0	1	0	0	0	15635	391	14	5	330	5	TBCB	19	36611673	Missense_Mutation	SNP	A	TCGA-CJ-4876-01A-01D-1373-10	31534198	36611673	22517310	37	27349											
PRX	57716	hgsc.bcm.edu	37	19	40902439	40902439	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr19:40902439T>C	ENST00000324001.7	-	7	2090	c.1820A>G	c.(1819-1821)aAg>aGg	p.K607R	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	607	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)			CTCGGGCACCTTCGGGAGTTG	0.532																																																0													103	115	111					19																	40902439		2203	4300	6503	SO:0001583	missense	57716			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.1820A>G	19.37:g.40902439T>C	ENSP00000326018:p.Lys607Arg		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326141	0.41197	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02812	4.15	4.77	4.77	0.60923	.	.	.	.	.	T	0.10208	0.0250	L	0.57536	1.79	0.58432	D	0.999998	D	0.64830	0.994	P	0.61397	0.888	T	0.02282	-1.1183	9	0.49607	T	0.09	-18.8445	13.4562	0.61199	0.0:0.0:0.0:1.0	.	607	Q9BXM0	PRAX_HUMAN	R	607	ENSP00000326018:K607R	ENSP00000326018:K607R	K	-	2	0	PRX	45594279	.	.	0.990000	0.47175	0.210000	0.24377	.	.	2.007000	0.58848	0.529000	0.55759	AAG		0.532	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		C	40902439	T	C	40902439	3	2	505	1	0	0	0	0	1	0	0	0	12647	1609	56	3	2569	3	PRX	19	40902439	Missense_Mutation	SNP	T	TCGA-CJ-4876-01A-01D-1373-10	4290766	40902439	18226544	38	27350											
KLK13	26085	hgsc.bcm.edu	37	19	51561875	51561875	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr19:51561875A>G	ENST00000595793.1	-	4	607	c.565T>C	c.(565-567)Tgt>Cgt	p.C189R	KLK13_ENST00000595547.1_Missense_Mutation_p.C116R|KLK13_ENST00000335422.3_Missense_Mutation_p.C37R	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	189	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		ACTTGACGACACTCCTCATCT	0.512																																																0													232	208	216					19																	51561875		2203	4300	6503	SO:0001583	missense	26085				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.565T>C	19.37:g.51561875A>G	ENSP00000470555:p.Cys189Arg		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574383	0.28092	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.96967	-4.19	4.8	3.79	0.43588	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.51477	D	0.000081	D	0.98626	0.9540	H	0.98133	4.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98054	1.0389	10	0.87932	D	0	.	8.7477	0.34596	0.9094:0.0:0.0906:0.0	.	37;116;189	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	R	189;37	ENSP00000334079:C37R	ENSP00000156476:C189R	C	-	1	0	KLK13	56253687	1.000000	0.71417	0.990000	0.47175	0.044000	0.14063	5.293000	0.65680	0.976000	0.38417	-0.250000	0.11733	TGT		0.512	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		G	51561875	A	G	51561875	3	3	505	1	0	0	0	0	1	0	0	0	8403	159	6	3	276	3	KLK13	19	51561875	Missense_Mutation	SNP	A	TCGA-CJ-4876-01A-01D-1373-10	10659436	51561875	7567108	39	27351											
LAIR2	3904	hgsc.bcm.edu	37	19	55020248	55020248	+	Missense_Mutation	SNP	G	G	C	rs12949		TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr19:55020248G>C	ENST00000301202.2	+	4	490	c.368G>C	c.(367-369)aGc>aCc	p.S123T	LAIR2_ENST00000351841.2_Intron	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	123						extracellular region (GO:0005576)		p.S123T(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TTTACAGAAAGCTCTGGAGGC	0.627																																																1	Substitution - Missense(1)	kidney(1)											54	63	60					19																	55020248		2127	4276	6403	SO:0001583	missense	3904			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.368G>C	19.37:g.55020248G>C	ENSP00000301202:p.Ser123Thr		Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	CCDS12897.1	97	0.044413919413919416	28	0.056910569105691054	13	0.03591160220994475	7	0.012237762237762238	49	0.06464379947229551	C	0.004	-2.301275	0.00243	.	.	ENSG00000167618	ENST00000301202	T	0.00523	6.83	1.4	-1.19	0.09585	.	.	.	.	.	T	0.00039	0.0001	N	0.02539	-0.55	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.23154	-1.0196	9	0.14252	T	0.57	.	0.4992	0.00576	0.2475:0.3218:0.2448:0.1859	rs3177589;rs17343215	123	Q6ISS4	LAIR2_HUMAN	T	123	ENSP00000301202:S123T	ENSP00000301202:S123T	S	+	2	0	LAIR2	59712060	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.594000	0.02094	-0.745000	0.04772	-0.980000	0.02579	AGC		0.627	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			C	55020248	G	C	55020248	3	2	505	1	0	0	0	0	1	0	0	0	8605	971	34	4	382	4	LAIR2	19	55020248	Missense_Mutation	SNP	G	TCGA-CJ-4876-01A-01D-1373-10	3458373	55020248	4108735	40	27352											
KIF16B	55614	hgsc.bcm.edu	37	20	16359582	16359582	+	Missense_Mutation	SNP	T	T	C	rs34336583	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr20:16359582T>C	ENST00000354981.2	-	19	3222	c.3065A>G	c.(3064-3066)cAc>cGc	p.H1022R	KIF16B_ENST00000408042.1_Missense_Mutation_p.H1022R|KIF16B_ENST00000355755.3_Missense_Mutation_p.H1022R|KIF16B_ENST00000378003.2_Missense_Mutation_p.H248R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1022	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CAGGGTGGAGTGCCTCTGCAG	0.592													C|||	25	0.00499201	0.0166	0.0043	5008	,	,		17825	0.0		0.0	False		,,,				2504	0.0															0								C	ARG/HIS,ARG/HIS,ARG/HIS	39,4367	822.7+/-416.5	0,39,2164	79	82	81		3065,3065,3065	3.3	0	20	dbSNP_126	81	0,8600		0,0,4300	yes	missense,missense,missense	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	29,29,29	0,39,6464	CC,CT,TT		0.0,0.8852,0.2999	benign,benign,benign	1022/1267,1022/1393,1022/1318	16359582	39,12967	2203	4300	6503	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3065A>G	20.37:g.16359582T>C	ENSP00000347076:p.His1022Arg		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	14	0.00641025641025641	11	0.022357723577235773	3	0.008287292817679558	0	0.0	0	0.0	C	0.005	-2.144049	0.00332	0.008852	0.0	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.68479	-0.33;-0.33;2.65;-0.29	5.29	3.31	0.37934	.	0.389046	0.32218	N	0.006414	T	0.14960	0.0361	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.21621	-1.0240	10	0.07325	T	0.83	.	5.4554	0.16588	0.0:0.5701:0.1361:0.2937	rs34336583	1022;1022;1022;1022	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	R	1022;1022;866;248;1022	ENSP00000347076:H1022R;ENSP00000347995:H1022R;ENSP00000367242:H248R;ENSP00000384164:H1022R	ENSP00000347076:H1022R	H	-	2	0	KIF16B	16307582	0.772000	0.28567	0.002000	0.10522	0.157000	0.22087	0.836000	0.27545	0.315000	0.23110	-0.754000	0.03487	CAC		0.592	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		C	16359582	T	C	16359582	3	2	505	1	0	0	0	0	1	0	0	0	8280	1696	59	3	920	3	KIF16B	20	16359582	Missense_Mutation	SNP	T	TCGA-CJ-4876-01A-01D-1373-10		16359582	46665938	41	27353											
CCDC120	90060	hgsc.bcm.edu	37	X	48919830	48919830	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chrX:48919830T>G	ENST00000376396.3	+	3	242	c.23T>G	c.(22-24)aTc>aGc	p.I8S	CCDC120_ENST00000597275.1_Missense_Mutation_p.I8S|CCDC120_ENST00000496529.2_Missense_Mutation_p.I8S|CCDC120_ENST00000422185.2_Missense_Mutation_p.I8S|CCDC120_ENST00000603986.1_Missense_Mutation_p.I43S|CCDC120_ENST00000536628.2_Intron	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	8										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GGTCAGCTGATCAGCTCTCCT	0.572																																																0													148	94	113					X																	48919830		2203	4300	6503	SO:0001583	missense	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.23T>G	X.37:g.48919830T>G	ENSP00000365577:p.Ile8Ser		B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301805	0.81136	.	.	ENSG00000147144	ENST00000376396;ENST00000422185	.	.	.	5.51	5.51	0.81932	.	0.098704	0.44688	D	0.000428	T	0.60753	0.2293	N	0.25245	0.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.966;0.966	T	0.60063	-0.7336	9	0.33141	T	0.24	-4.2591	12.1187	0.53880	0.0:0.0:0.0:1.0	.	43;8	B4DFC1;Q96HB5	.;CC120_HUMAN	S	8	.	ENSP00000365577:I8S	I	+	2	0	CCDC120	48806774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.449000	0.60034	1.847000	0.53656	0.356000	0.21956	ATC		0.572	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		G	48919830	T	G	48919830	3	3	505	1	0	0	0	0	1	0	0	0	2758	1435	50	5	25	5	CCDC120	23	48919830	Missense_Mutation	SNP	T	TCGA-CJ-4876-01A-01D-1373-10		48919830	106350730	42	27354											
LDLRAD1	388633	hgsc.bcm.edu;ucsc.edu	37	1	54477874	54477874	+	Silent	SNP	C	C	T			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr1:54477874C>T	ENST00000371360.1	-	4	299	c.282G>A	c.(280-282)ggG>ggA	p.G94G	LDLRAD1_ENST00000545928.1_Silent_p.G51G|LDLRAD1_ENST00000371362.3_Intron|LDLRAD1_ENST00000420619.1_Silent_p.G55G	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	94	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						CATCACAGACCCCACTGGCTG	0.607																																																0													137	108	118					1																	54477874		2203	4300	6503	SO:0001819	synonymous_variant	388633				CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 1"				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.282G>A	1.37:g.54477874C>T			A0PJY0|B7ZME3|Q5T6Z9	Silent	SNP	ENST00000371360.1	37	CCDS30725.1																																																																																				0.607	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	NM_001010978		T	54477874	C	T	54477874	2	4	506	1	0	0	0	0	0	0	0	1	8707	610	22	2		2	LDLRAD1	1	54477874	Silent	SNP	C	TCGA-CJ-4878-01A-01D-1373-10		54477874	194772747	1	27355											
HFM1	164045	hgsc.bcm.edu;ucsc.edu	37	1	91840948	91840948	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr1:91840948G>C	ENST00000370425.3	-	13	1750	c.1652C>G	c.(1651-1653)gCt>gGt	p.A551G	HFM1_ENST00000370424.3_Missense_Mutation_p.A230G|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	551	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATAAATTTAGCATCTTTCAC	0.333																																																0													78	74	75					1																	91840948		1826	4077	5903	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1652C>G	1.37:g.91840948G>C	ENSP00000359454:p.Ala551Gly		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664593	0.47572	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.44482	0.92;0.92	5.71	4.79	0.61399	Helicase, C-terminal (1);	0.000000	0.29355	U	0.012386	T	0.33556	0.0867	N	0.24115	0.695	0.80722	D	1	B;D	0.55605	0.166;0.972	B;P	0.55871	0.077;0.786	T	0.10989	-1.0606	10	0.52906	T	0.07	.	14.1122	0.65129	0.0717:0.0:0.9283:0.0	.	230;551	A6NGI5;A2PYH4	.;HFM1_HUMAN	G	551;230;235;584	ENSP00000359454:A551G;ENSP00000359453:A230G	ENSP00000359450:A235G	A	-	2	0	HFM1	91613536	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.921000	0.63397	2.711000	0.92665	0.563000	0.77884	GCT		0.333	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		C	91840948	G	C	91840948	3	2	506	1	0	0	0	0	1	0	0	0	7085	971	34	4	2763	4	HFM1	1	91840948	Missense_Mutation	SNP	G	TCGA-CJ-4878-01A-01D-1373-10	37363074	91840948	157409673	2	27356											
C1orf59	113802	hgsc.bcm.edu;ucsc.edu	37	1	109191427	109191427	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr1:109191427C>G	ENST00000370032.5	-	8	1363	c.943G>C	c.(943-945)Gga>Cga	p.G315R	HENMT1_ENST00000493676.1_5'Flank|HENMT1_ENST00000402983.1_Missense_Mutation_p.G315R|HENMT1_ENST00000370031.1_Missense_Mutation_p.G346R	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	315					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AAGACTGGTCCAAAGCATGGG	0.522																																																0													108	100	102					1																	109191427		2203	4300	6503	SO:0001583	missense	0				CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"HEN1 methyltransferase homolog (Arabidopsis)"	612178	"chromosome 1 open reading frame 59"	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.943G>C	1.37:g.109191427C>G	ENSP00000359049:p.Gly315Arg		A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	CCDS787.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173844	0.38413	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.33865	1.97;1.95;1.97;1.39	5.08	2.01	0.26516	.	0.823306	0.11339	N	0.574285	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B	0.30281	0.275	B	0.23852	0.049	T	0.37865	-0.9687	10	0.12103	T	0.63	0.2046	2.786	0.05374	0.1384:0.5284:0.1625:0.1707	.	315	Q5T8I9	HENMT_HUMAN	R	315;346;315;315	ENSP00000385655:G315R;ENSP00000359048:G346R;ENSP00000359049:G315R;ENSP00000403953:G315R	ENSP00000359048:G346R	G	-	1	0	HENMT1	108992950	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.583000	0.23849	0.307000	0.22880	0.655000	0.94253	GGA		0.522	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		G	109191427	C	G	109191427	3	3	506	1	0	0	0	0	1	0	0	0	2053	603	21	4	242	4	C1orf59	1	109191427	Missense_Mutation	SNP	C	TCGA-CJ-4878-01A-01D-1373-10	17350479	109191427	140059194	3	27357											
APOB	338	hgsc.bcm.edu;ucsc.edu	37	2	21224731	21224731	+	Silent	SNP	A	A	G			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr2:21224731A>G	ENST00000233242.1	-	29	13690	c.13563T>C	c.(13561-13563)atT>atC	p.I4521I	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4521					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGACAGGTCAATCAATCTTT	0.363																																																0													138	144	142					2																	21224731		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13563T>C	2.37:g.21224731A>G			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			G	21224731	A	G	21224731	2	3	506	1	0	0	0	0	0	0	0	1	785	126	5	3		3	APOB	2	21224731	Silent	SNP	A	TCGA-CJ-4878-01A-01D-1373-10		21224731	221974642	4	27358											
ZDBF2	57683	hgsc.bcm.edu	37	2	207170013	207170013	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr2:207170013A>G	ENST00000374423.3	+	5	1147	c.761A>G	c.(760-762)cAt>cGt	p.H254R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	254							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TATCAGAAACATAAAGAATCA	0.363																																																0													31	30	30					2																	207170013		1829	4087	5916	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.761A>G	2.37:g.207170013A>G	ENSP00000363545:p.His254Arg		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	1.886	-0.456663	0.04540	.	.	ENSG00000204186	ENST00000374423	T	0.16196	2.36	4.71	2.87	0.33458	.	0.465919	0.16082	N	0.230457	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.31024	-0.9958	10	0.31617	T	0.26	.	11.8282	0.52280	0.3222:0.6778:0.0:0.0	.	254	Q9HCK1	ZDBF2_HUMAN	R	254	ENSP00000363545:H254R	ENSP00000363545:H254R	H	+	2	0	ZDBF2	206878258	0.005000	0.15991	0.219000	0.23793	0.057000	0.15508	0.432000	0.21461	0.386000	0.24997	-0.148000	0.13756	CAT		0.363	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		G	207170013	A	G	207170013	3	3	506	1	0	0	0	0	1	0	0	0	17604	217	8	3	771	3	ZDBF2	2	207170013	Missense_Mutation	SNP	A	TCGA-CJ-4878-01A-01D-1373-10	185945282	207170013	36029360	5	27359											
RHBDD1	84236	hgsc.bcm.edu;ucsc.edu	37	2	227771560	227771560	+	Silent	SNP	T	T	C			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr2:227771560T>C	ENST00000341329.3	+	4	860	c.618T>C	c.(616-618)acT>acC	p.T206T	RHBDD1_ENST00000409053.1_Silent_p.T40T|RHBDD1_ENST00000392062.2_Silent_p.T206T	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	206					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TAATGTACACTCAAGGGCCTC	0.443																																																0													140	146	144					2																	227771560		2203	4300	6503	SO:0001819	synonymous_variant	84236			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.618T>C	2.37:g.227771560T>C			Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Silent	SNP	ENST00000341329.3	37	CCDS2464.1																																																																																				0.443	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			C	227771560	T	C	227771560	2	2	506	1	0	0	0	0	0	0	0	1	13322	1538	54	3		3	RHBDD1	2	227771560	Silent	SNP	T	TCGA-CJ-4878-01A-01D-1373-10	20601547	227771560	15427813	6	27360											
ACTR8	93973	hgsc.bcm.edu;ucsc.edu	37	3	53916098	53916098	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr3:53916098T>C	ENST00000335754.3	-	1	131	c.31A>G	c.(31-33)Aac>Gac	p.N11D	ACTR8_ENST00000482349.1_5'Flank|AC012467.1_ENST00000410956.1_RNA	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	11					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		tcctttccgttctccGTATCA	0.662																																																0													56	53	54					3																	53916098		2023	3931	5954	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.31A>G	3.37:g.53916098T>C	ENSP00000336842:p.Asn11Asp		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.186528	0.57909	.	.	ENSG00000113812	ENST00000335754	D	0.96334	-3.98	5.59	5.59	0.84812	.	0.111229	0.64402	D	0.000009	D	0.89815	0.6824	N	0.08118	0	0.80722	D	1	B	0.32918	0.39	B	0.26864	0.074	D	0.89751	0.3940	10	0.56958	D	0.05	1.7881	13.1361	0.59409	0.0:0.0:0.0:1.0	.	11	Q9H981	ARP8_HUMAN	D	11	ENSP00000336842:N11D	ENSP00000336842:N11D	N	-	1	0	ACTR8	53891138	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	3.198000	0.51035	2.130000	0.65690	0.533000	0.62120	AAC		0.662	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		C	53916098	T	C	53916098	3	2	506	1	0	0	0	0	1	0	0	0	217	1783	62	3	1895	3	ACTR8	3	53916098	Missense_Mutation	SNP	T	TCGA-CJ-4878-01A-01D-1373-10		53916098	144106332	7	27361											
DAPP1	27071	hgsc.bcm.edu;ucsc.edu	37	4	100756843	100756843	+	Silent	SNP	C	C	T	rs554960188		TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr4:100756843C>T	ENST00000512369.1	+	2	233	c.165C>T	c.(163-165)gaC>gaT	p.D55D	DAPP1_ENST00000296414.7_Silent_p.D55D	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	55	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		ATGGATGTGACGGCAGCTACC	0.547																																																0													130	127	128					4																	100756843		2072	4203	6275	SO:0001819	synonymous_variant	27071			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.165C>T	4.37:g.100756843C>T			Q8TCK5|Q9UHF2	Silent	SNP	ENST00000512369.1	37	CCDS47112.1																																																																																				0.547	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			T	100756843	C	T	100756843	2	4	506	1	0	0	0	0	0	0	0	1	4241	535	19	1		1	DAPP1	4	100756843	Silent	SNP	C	TCGA-CJ-4878-01A-01D-1373-10		100756843	90397433	8	27362											
TAS2R1	50834	hgsc.bcm.edu;ucsc.edu	37	5	9629743	9629743	+	Silent	SNP	C	C	G			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr5:9629743C>G	ENST00000382492.2	-	1	720	c.402G>C	c.(400-402)ctG>ctC	p.L134L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	134					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ATACATATAGCAGAGACCCCA	0.428																																																0													51	55	53					5																	9629743		2203	4300	6503	SO:0001819	synonymous_variant	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.402G>C	5.37:g.9629743C>G			Q646G8	Silent	SNP	ENST00000382492.2	37	CCDS3876.1																																																																																				0.428	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			G	9629743	C	G	9629743	2	3	506	1	0	0	0	0	0	0	0	1	15570	697	25	4		4	TAS2R1	5	9629743	Silent	SNP	C	TCGA-CJ-4878-01A-01D-1373-10		9629743	171285517	9	27363											
BTN1A1	696	hgsc.bcm.edu;ucsc.edu	37	6	26509059	26509059	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr6:26509059T>A	ENST00000244513.6	+	7	1304	c.1238T>A	c.(1237-1239)cTc>cAc	p.L413H		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	413	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CGGACCCCTCTCCCATTGGCA	0.502																																																0													67	67	67					6																	26509059		2203	4300	6503	SO:0001583	missense	696			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1238T>A	6.37:g.26509059T>A	ENSP00000244513:p.Leu413His		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.649968	0.47362	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.67171	-0.25	5.98	4.8	0.61643	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.52532	D	0.000066	T	0.74450	0.3718	M	0.87097	2.86	0.34550	D	0.711213	D	0.89917	1.0	D	0.97110	1.0	T	0.79371	-0.1831	10	0.87932	D	0	.	5.446	0.16535	0.1546:0.0802:0.0:0.7652	.	413	Q13410	BT1A1_HUMAN	H	413	ENSP00000244513:L413H	ENSP00000244513:L413H	L	+	2	0	BTN1A1	26617038	0.104000	0.21937	0.798000	0.32154	0.453000	0.32348	1.976000	0.40579	1.048000	0.40298	0.533000	0.62120	CTC		0.502	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		A	26509059	T	A	26509059	3	1	506	1	0	0	0	0	1	0	0	0	1561	1551	54	5	1264	5	BTN1A1	6	26509059	Missense_Mutation	SNP	T	TCGA-CJ-4878-01A-01D-1373-10		26509059	144606008	10	27364											
MAP3K5	4217	hgsc.bcm.edu;ucsc.edu	37	6	136879991	136879991	+	Silent	SNP	T	T	C	rs370967982		TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr6:136879991T>C	ENST00000359015.4	-	29	4371	c.4011A>G	c.(4009-4011)ctA>ctG	p.L1337L	MAP3K5_ENST00000355845.4_Silent_p.L584L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1337					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAACATCCAATAGTGTATAAT	0.323																																																0								T		0,4406		0,0,2203	115	119	118		4011	-2.9	0.2	6		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAP3K5	NM_005923.3		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		1337/1375	136879991	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.4011A>G	6.37:g.136879991T>C			A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	CCDS5179.1																																																																																				0.323	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			C	136879991	T	C	136879991	2	2	506	1	0	0	0	0	0	0	0	1	9255	1393	49	3		3	MAP3K5	6	136879991	Silent	SNP	T	TCGA-CJ-4878-01A-01D-1373-10	110370932	136879991	34235076	11	27365											
ADAP1	11033	hgsc.bcm.edu	37	7	975057	975057	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr7:975057T>A	ENST00000265846.5	-	2	386	c.167A>T	c.(166-168)aAg>aTg	p.K56M	ADAP1_ENST00000463358.1_5'UTR|ADAP1_ENST00000539900.1_Missense_Mutation_p.K67M	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	56	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GGACTTCACCTTGCTGACCTG	0.682																																																0													37	35	35					7																	975057		2185	4278	6463	SO:0001583	missense	11033			AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16486	protein-coding gene	gene with protein product		608114	"centaurin, alpha 1"	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.167A>T	7.37:g.975057T>A	ENSP00000265846:p.Lys56Met		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	ENST00000265846.5	37	CCDS5318.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150622	0.78001	.	.	ENSG00000105963	ENST00000265846;ENST00000539900;ENST00000435943	T;T;T	0.51574	0.7;0.7;0.7	4.44	3.29	0.37713	.	0.155316	0.56097	D	0.000036	T	0.67505	0.2900	M	0.92026	3.265	0.80722	D	1	D	0.52996	0.957	P	0.57679	0.825	T	0.72004	-0.4421	10	0.87932	D	0	-35.039	9.5272	0.39171	0.0:0.0837:0.0:0.9163	.	56	O75689	ADAP1_HUMAN	M	56;67;43	ENSP00000265846:K56M;ENSP00000442682:K67M;ENSP00000394973:K43M	ENSP00000265846:K56M	K	-	2	0	ADAP1	941583	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.147000	0.42226	0.754000	0.32968	0.528000	0.53228	AAG		0.682	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869		A	975057	T	A	975057	3	1	506	1	0	0	0	0	1	0	0	0	279	1609	56	5	997	5	ADAP1	7	975057	Missense_Mutation	SNP	T	TCGA-CJ-4878-01A-01D-1373-10		975057	158163606	12	27366											
ABCA13	154664	hgsc.bcm.edu	37	7	48452147	48452147	+	Silent	SNP	G	G	A	rs369363967	byFrequency	TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr7:48452147G>A	ENST00000435803.1	+	41	12450	c.12426G>A	c.(12424-12426)acG>acA	p.T4142T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4142					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCACCTGACGGGCTATGGGA	0.478													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		17632	0.0		0.0	False		,,,				2504	0.0															0								G		24,3846		0,24,1911	80	75	77		12426	-9.9	0	7		77	0,8308		0,0,4154	no	coding-synonymous	ABCA13	NM_152701.3		0,24,6065	AA,AG,GG		0.0,0.6202,0.1971		4142/5059	48452147	24,12154	1935	4154	6089	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12426G>A	7.37:g.48452147G>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.478	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48452147	G	A	48452147	2	1	506	1	0	0	0	0	0	0	0	1	31	1103	39	1		1	ABCA13	7	48452147	Silent	SNP	G	TCGA-CJ-4878-01A-01D-1373-10	47477090	48452147	110686516	13	27367											
PCLO	27445	hgsc.bcm.edu;ucsc.edu	37	7	82585659	82585659	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr7:82585659C>T	ENST00000333891.9	-	5	4947	c.4610G>A	c.(4609-4611)aGc>aAc	p.S1537N	PCLO_ENST00000423517.2_Missense_Mutation_p.S1537N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCATCACTGCTTGATGAGCC	0.408																																																0													139	126	130					7																	82585659		1915	4155	6070	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4610G>A	7.37:g.82585659C>T	ENSP00000334319:p.Ser1537Asn			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051771	0.55218	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.22743	1.94;1.95	5.47	5.47	0.80525	.	.	.	.	.	T	0.45175	0.1329	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.34601	-0.9822	9	0.87932	D	0	.	19.3222	0.94246	0.0:1.0:0.0:0.0	.	1537;1537	Q9Y6V0-5;Q9Y6V0-6	.;.	N	1468;1537;1537	ENSP00000334319:S1537N;ENSP00000388393:S1537N	ENSP00000334319:S1537N	S	-	2	0	PCLO	82423595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.656000	0.67988	2.569000	0.86673	0.655000	0.94253	AGC		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82585659	C	T	82585659	3	4	506	1	0	0	0	0	1	0	0	0	11585	797	28	2	10919	2	PCLO	7	82585659	Missense_Mutation	SNP	C	TCGA-CJ-4878-01A-01D-1373-10	34133512	82585659	76553004	14	27368											
ASNS	440	hgsc.bcm.edu;ucsc.edu	37	7	97487606	97487606	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr7:97487606A>G	ENST00000394309.3	-	7	1358	c.887T>C	c.(886-888)tTa>tCa	p.L296S	ASNS_ENST00000455086.1_Missense_Mutation_p.L213S|ASNS_ENST00000394308.3_Missense_Mutation_p.L296S|ASNS_ENST00000437628.1_Missense_Mutation_p.L213S|ASNS_ENST00000175506.4_Missense_Mutation_p.L296S|ASNS_ENST00000422745.1_Missense_Mutation_p.L275S|ASNS_ENST00000444334.1_Missense_Mutation_p.L275S	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	296	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGCAGCCAGTAAATCGGGGCT	0.448																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)											0													94	81	86					7																	97487606		2203	4300	6503	SO:0001583	missense	440			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.887T>C	7.37:g.97487606A>G	ENSP00000377846:p.Leu296Ser		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826265	0.71143	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.37	4.37	0.52481	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.261056	0.30575	N	0.009338	T	0.48295	0.1492	L	0.37897	1.145	0.58432	D	0.999992	D	0.56968	0.978	P	0.58577	0.841	T	0.51426	-0.8707	10	0.87932	D	0	-12.3318	12.1812	0.54214	1.0:0.0:0.0:0.0	.	296	P08243	ASNS_HUMAN	S	296;296;213;296;275;213;275	ENSP00000175506:L296S;ENSP00000377846:L296S;ENSP00000414379:L213S;ENSP00000377845:L296S;ENSP00000414901:L275S;ENSP00000408472:L213S;ENSP00000406994:L275S	ENSP00000175506:L296S	L	-	2	0	ASNS	97325542	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	6.298000	0.72763	1.919000	0.55581	0.455000	0.32223	TTA		0.448	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		G	97487606	A	G	97487606	3	3	506	1	0	0	0	0	1	0	0	0	1048	372	13	3	826	3	ASNS	7	97487606	Missense_Mutation	SNP	A	TCGA-CJ-4878-01A-01D-1373-10	14901947	97487606	61651057	15	27369											
ADAM2	2515	hgsc.bcm.edu;ucsc.edu	37	8	39666986	39666986	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr8:39666986C>T	ENST00000265708.4	-	7	617		c.e7-1		ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000347580.4_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTGCTGTGGCTGAAAAAATC	0.249																																																0													40	42	41					8																	39666986		2184	4247	6431	SO:0001630	splice_region_variant	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.514-1G>A	8.37:g.39666986C>T			P78326|Q9UQQ8	Splice_Site	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089839	0.36855	.	.	ENSG00000104755	ENST00000265708;ENST00000521880	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3169	0.54962	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAM2	39786143	0.969000	0.33509	0.968000	0.41197	0.099000	0.18886	2.497000	0.45354	2.629000	0.89072	0.561000	0.74099	.		0.249	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	Intron	T	39666986	C	T	39666986	5	4	506	1	0	0	0	0	0	0	1	0	241	811	28	2	1750	2	ADAM2	8	39666986	Splice_Site	SNP	C	TCGA-CJ-4878-01A-01D-1373-10		39666986	106697036	16	27370											
GLDC	2731	hgsc.bcm.edu	37	9	6536219	6536219	+	Missense_Mutation	SNP	T	T	C	rs141152043	byFrequency	TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr9:6536219T>C	ENST00000321612.6	-	23	2833	c.2683A>G	c.(2683-2685)Atg>Gtg	p.M895V		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	895					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GGCCAGGACATGGTAGGGGCG	0.542													T|||	9	0.00179712	0.0061	0.0	5008	,	,		20312	0.0		0.001	False		,,,				2504	0.0															0								T	VAL/MET	20,4386	26.2+/-53.5	0,20,2183	36	31	33		2683	5.2	1	9	dbSNP_134	33	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GLDC	NM_000170.2	21	0,23,6480	CC,CT,TT		0.0349,0.4539,0.1768	benign	895/1021	6536219	23,12983	2203	4300	6503	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2683A>G	9.37:g.6536219T>C	ENSP00000370737:p.Met895Val		Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	CCDS34987.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	13.77	2.335394	0.41398	0.004539	3.49E-4	ENSG00000178445	ENST00000321612	D	0.97959	-4.63	5.21	5.21	0.72293	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	L	0.38175	1.15	0.80722	D	1	B	0.26547	0.152	B	0.25987	0.065	D	0.93643	0.6966	10	0.41790	T	0.15	-25.9896	15.3768	0.74610	0.0:0.0:0.0:1.0	.	895	P23378	GCSP_HUMAN	V	895	ENSP00000370737:M895V	ENSP00000370737:M895V	M	-	1	0	GLDC	6526219	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.596000	0.82721	2.092000	0.63282	0.254000	0.18369	ATG		0.542	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		C	6536219	T	C	6536219	3	2	506	1	0	0	0	0	1	0	0	0	6435	1464	51	3	391	3	GLDC	9	6536219	Missense_Mutation	SNP	T	TCGA-CJ-4878-01A-01D-1373-10		6536219	134677212	17	27371											
FRMPD2	143162	hgsc.bcm.edu;ucsc.edu	37	10	49450292	49450292	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr10:49450292A>G	ENST00000374201.3	-	5	781	c.479T>C	c.(478-480)gTt>gCt	p.V160A	FRMPD2_ENST00000305531.3_Missense_Mutation_p.V136A|FRMPD2_ENST00000407470.4_Missense_Mutation_p.V129A	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	160	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTTCTCATGAACCCGACAAGC	0.562																																																0													101	98	99					10																	49450292		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.479T>C	10.37:g.49450292A>G	ENSP00000363317:p.Val160Ala		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.555821	0.00918	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.24908	1.83;1.83;1.83	5.36	-2.54	0.06307	KIND (2);	.	.	.	.	T	0.13586	0.0329	N	0.16790	0.44	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.32955	-0.9887	9	0.22109	T	0.4	.	10.5169	0.44896	0.4624:0.0:0.5376:0.0	.	136;160;129	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	A	160;136;129	ENSP00000363317:V160A;ENSP00000307079:V136A;ENSP00000384339:V129A	ENSP00000307079:V136A	V	-	2	0	FRMPD2	49120298	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	0.012000	0.13287	-0.490000	0.06707	-0.290000	0.09829	GTT		0.562	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		G	49450292	A	G	49450292	3	3	506	1	0	0	0	0	1	0	0	0	6060	43	2	3	3550	3	FRMPD2	10	49450292	Missense_Mutation	SNP	A	TCGA-CJ-4878-01A-01D-1373-10		49450292	86084455	18	27372											
AS3MT	57412	hgsc.bcm.edu;ucsc.edu	37	10	104632879	104632879	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr10:104632879A>C	ENST00000369880.3	+	5	424	c.347A>C	c.(346-348)gAc>gCc	p.D116A	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	116					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AAGTATCTTGACTATCACATG	0.338																																																0													116	112	113					10																	104632879		1836	4087	5923	SO:0001583	missense	57412			AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"arsenic (+3 oxidation state) methyltransferase"			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.347A>C	10.37:g.104632879A>C	ENSP00000358896:p.Asp116Ala		A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.863083	0.32884	.	.	ENSG00000214435	ENST00000369880	T	0.22945	1.93	5.65	3.32	0.38043	Methyltransferase type 11 (1);	0.451722	0.25114	N	0.033032	T	0.17959	0.0431	L	0.36672	1.1	0.80722	D	1	B;B;B	0.18863	0.031;0.01;0.025	B;B;B	0.24394	0.053;0.021;0.035	T	0.07252	-1.0782	10	0.38643	T	0.18	-0.698	4.6584	0.12630	0.7053:0.0:0.1541:0.1406	.	116;116;116	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	A	116	ENSP00000358896:D116A	ENSP00000358896:D116A	D	+	2	0	AS3MT	104622869	0.415000	0.25416	0.131000	0.22000	0.994000	0.84299	1.185000	0.32065	0.421000	0.25980	0.459000	0.35465	GAC		0.338	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		C	104632879	A	C	104632879	3	2	506	1	0	0	0	0	1	0	0	0	1005	275	10	5	365	5	AS3MT	10	104632879	Missense_Mutation	SNP	A	TCGA-CJ-4878-01A-01D-1373-10	55182587	104632879	30901868	19	27373											
TRIM3	10612	hgsc.bcm.edu	37	11	6477381	6477381	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr11:6477381T>C	ENST00000525074.1	-	7	1848	c.1454A>G	c.(1453-1455)gAa>gGa	p.E485G	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Missense_Mutation_p.E485G|TRIM3_ENST00000537602.1_Missense_Mutation_p.E407G|TRIM3_ENST00000536344.1_Missense_Mutation_p.E366G|TRIM3_ENST00000359518.3_Missense_Mutation_p.E485G	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	485					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGGTGAATTCACCTTTCTC	0.522																																					Melanoma(6;5 510 1540 25169 29084)											0													127	113	118					11																	6477381		2201	4296	6497	SO:0001583	missense	10612			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1454A>G	11.37:g.6477381T>C	ENSP00000433102:p.Glu485Gly		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	T	31	5.087133	0.94100	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.56	5.56	0.83823	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.92218	0.5782	10	0.72032	D	0.01	-16.0271	14.5421	0.68002	0.0:0.0:0.0:1.0	.	366;485	F5H2Q8;O75382	.;TRIM3_HUMAN	G	485;485;485;485;474;407;485;366	ENSP00000433102:E485G;ENSP00000340797:E485G;ENSP00000441091:E407G;ENSP00000352508:E485G;ENSP00000445460:E366G	ENSP00000337094:E474G	E	-	2	0	TRIM3	6433957	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.967000	0.87967	2.109000	0.64355	0.460000	0.39030	GAA		0.522	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		C	6477381	T	C	6477381	3	2	506	1	0	0	0	0	1	0	0	0	16509	1783	62	3	804	3	TRIM3	11	6477381	Missense_Mutation	SNP	T	TCGA-CJ-4878-01A-01D-1373-10		6477381	128529135	20	27374											
OR10A6	390093	hgsc.bcm.edu;ucsc.edu	37	11	7949711	7949711	+	Missense_Mutation	SNP	G	G	A	rs267603212		TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr11:7949711G>A	ENST00000309838.2	-	1	498	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P167S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCACAAAAGGGAAAACTAGAT	0.323																																																1	Substitution - Missense(1)	breast(1)											41	45	43					11																	7949711		2201	4295	6496	SO:0001583	missense	390093			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.499C>T	11.37:g.7949711G>A	ENSP00000312470:p.Pro167Ser		Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291663	0.23564	.	.	ENSG00000175393	ENST00000309838	T	0.00164	8.64	4.41	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000583	T	0.00210	0.0006	L	0.28458	0.855	0.22305	N	0.99922	D	0.53745	0.962	P	0.60286	0.872	T	0.52873	-0.8517	10	0.45353	T	0.12	.	5.4197	0.16394	0.3177:0.0:0.6823:0.0	.	167	Q8NH74	O10A6_HUMAN	S	167	ENSP00000312470:P167S	ENSP00000312470:P167S	P	-	1	0	OR10A6	7906287	0.114000	0.22134	1.000000	0.80357	0.137000	0.21094	0.377000	0.20552	1.209000	0.43321	0.655000	0.94253	CCC		0.323	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		A	7949711	G	A	7949711	3	1	506	1	0	0	0	0	1	0	0	0	10896	1174	41	2	448	2	OR10A6	11	7949711	Missense_Mutation	SNP	G	TCGA-CJ-4878-01A-01D-1373-10	1472330	7949711	127056805	21	27375											
IGSF22	283284	hgsc.bcm.edu;ucsc.edu	37	11	18738274	18738274	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr11:18738274C>T	ENST00000513874.1	-	10	1386		c.e10+1		RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22											NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CAACCACTCACGGTCAACAGT	0.517																																																0													88	86	87					11																	18738274		1955	4146	6101	SO:0001630	splice_region_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1246+1G>A	11.37:g.18738274C>T			A6NNA0|D6RGV7	Splice_Site	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553672	0.45487	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.77	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0909	0.30801	0.0:0.7192:0.0:0.2808	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF22	18694850	1.000000	0.71417	0.961000	0.40146	0.681000	0.39784	1.355000	0.34068	0.367000	0.24454	0.655000	0.94253	.		0.517	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	Intron	T	18738274	C	T	18738274	5	4	506	1	0	0	0	0	0	0	1	0	7602	550	19	1	2789	1	IGSF22	11	18738274	Splice_Site	SNP	C	TCGA-CJ-4878-01A-01D-1373-10	10788563	18738274	116268242	22	27376											
DCDC1	341019	hgsc.bcm.edu;ucsc.edu	37	11	31327796	31327796	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr11:31327796C>T	ENST00000452803.1	-	5	775	c.574G>A	c.(574-576)Gta>Ata	p.V192I	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000597505.1_Missense_Mutation_p.V192I	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	192	Doublecortin. {ECO:0000255|PROSITE- ProRule:PRU00072}.			V -> A (in Ref. 1; AAP75563). {ECO:0000305}.	intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGGTTGGTACAGTAACTCTG	0.323																																																0													124	119	121					11																	31327796		2202	4299	6501	SO:0001583	missense	341019			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.574G>A	11.37:g.31327796C>T	ENSP00000389792:p.Val192Ile		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683877	0.68157	.	.	ENSG00000188682	ENST00000452803	D	0.93247	-3.19	5.95	4.08	0.47627	Doublecortin domain (3);	0.603708	0.14607	N	0.309295	D	0.90324	0.6973	L	0.48362	1.52	0.20926	N	0.999829	B	0.29590	0.25	B	0.30572	0.117	D	0.84106	0.0398	10	0.52906	T	0.07	.	11.3676	0.49681	0.0:0.8577:0.0:0.1423	.	192	P59894	DCDC1_HUMAN	I	192	ENSP00000389792:V192I	ENSP00000343496:V192I	V	-	1	0	DCDC1	31284372	0.998000	0.40836	0.985000	0.45067	0.990000	0.78478	1.857000	0.39399	1.518000	0.48934	0.650000	0.86243	GTA		0.323	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		T	31327796	C	T	31327796	3	4	506	1	0	0	0	0	1	0	0	0	4286	478	17	2	510	2	DCDC1	11	31327796	Missense_Mutation	SNP	C	TCGA-CJ-4878-01A-01D-1373-10	12589522	31327796	103678720	23	27377											
SLC16A7	9194	hgsc.bcm.edu;ucsc.edu	37	12	60169209	60169209	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr12:60169209T>G	ENST00000261187.4	+	4	1297	c.1133T>G	c.(1132-1134)gTc>gGc	p.V378G	SLC16A7_ENST00000552432.1_Missense_Mutation_p.V378G|SLC16A7_ENST00000552024.1_Missense_Mutation_p.V378G|SLC16A7_ENST00000547379.1_Missense_Mutation_p.V378G|SLC16A7_ENST00000543448.1_Missense_Mutation_p.V279G	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	378					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	GTCGGACTTGTCACAATTGTG	0.433																																																0													101	93	96					12																	60169209		2203	4300	6503	SO:0001583	missense	9194			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1133T>G	12.37:g.60169209T>G	ENSP00000261187:p.Val378Gly		Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.538698	0.27475	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	5.77	-1.01	0.10169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.665589	0.16064	N	0.231348	T	0.71117	0.3302	M	0.82823	2.61	0.36108	D	0.844599	D	0.56746	0.977	P	0.62560	0.904	T	0.74976	-0.3480	9	.	.	.	.	10.8476	0.46751	0.0:0.4126:0.0:0.5874	.	378	O60669	MOT2_HUMAN	G	378;378;378;378;378;279	ENSP00000449547:V378G;ENSP00000448071:V378G;ENSP00000448742:V378G;ENSP00000446722:V378G;ENSP00000261187:V378G;ENSP00000443731:V279G	.	V	+	2	0	SLC16A7	58455476	0.999000	0.42202	0.010000	0.14722	0.007000	0.05969	1.304000	0.33482	-0.317000	0.08677	-0.408000	0.06270	GTC		0.433	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		G	60169209	T	G	60169209	3	3	506	1	0	0	0	0	1	0	0	0	14419	1667	58	5	1143	5	SLC16A7	12	60169209	Missense_Mutation	SNP	T	TCGA-CJ-4878-01A-01D-1373-10		60169209	73682686	24	27378											
CCNA1	8900	hgsc.bcm.edu;ucsc.edu	37	13	37007258	37007258	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr13:37007258G>A	ENST00000255465.4	+	2	461	c.197G>A	c.(196-198)tGt>tAt	p.C66Y	CCNA1_ENST00000449823.1_Missense_Mutation_p.C22Y|CCNA1_ENST00000440264.1_Missense_Mutation_p.C22Y|CCNA1_ENST00000418263.1_Missense_Mutation_p.C65Y|CCNA1_ENST00000463403.1_3'UTR			P78396	CCNA1_HUMAN	cyclin A1	66					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCCGATGCTTGTCAGATACTC	0.607																																																0													89	87	88					13																	37007258		2203	4300	6503	SO:0001583	missense	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.197G>A	13.37:g.37007258G>A	ENSP00000255465:p.Cys66Tyr		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.101973	0.37048	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.14640	2.59;2.59;2.49;2.49	4.63	1.86	0.25419	.	0.815751	0.11245	N	0.584207	T	0.07503	0.0189	L	0.31294	0.92	0.32416	N	0.550054	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.40590	-0.9555	10	0.02654	T	1	.	5.3942	0.16261	0.1881:0.1692:0.6427:0.0	.	65;66	P78396-2;P78396	.;CCNA1_HUMAN	Y	22;22;65;66	ENSP00000400666:C22Y;ENSP00000409873:C22Y;ENSP00000396479:C65Y;ENSP00000255465:C66Y	ENSP00000255465:C66Y	C	+	2	0	CCNA1	35905258	0.933000	0.31639	0.995000	0.50966	0.964000	0.63967	0.875000	0.28079	0.473000	0.27368	0.555000	0.69702	TGT		0.607	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		A	37007258	G	A	37007258	3	1	506	1	0	0	0	0	1	0	0	0	2911	1377	48	2	203	2	CCNA1	13	37007258	Missense_Mutation	SNP	G	TCGA-CJ-4878-01A-01D-1373-10		37007258	78162620	25	27379											
LRFN5	145581	hgsc.bcm.edu;ucsc.edu	37	14	42356392	42356392	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr14:42356392G>T	ENST00000298119.4	+	3	1753	c.564G>T	c.(562-564)aaG>aaT	p.K188N	LRFN5_ENST00000554171.1_Missense_Mutation_p.K188N|LRFN5_ENST00000554120.1_Missense_Mutation_p.K188N	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	188						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACATTCCTAAGGGGACCTTCT	0.423										HNSCC(30;0.082)																																						0													73	63	66					14																	42356392		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.564G>T	14.37:g.42356392G>T	ENSP00000298119:p.Lys188Asn		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287667	0.23478	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.91237	-2.81;-2.81;-2.81	5.56	-1.24	0.09435	.	0.000000	0.56097	D	0.000023	T	0.78362	0.4271	N	0.04655	-0.195	0.45762	D	0.998659	B;B	0.21905	0.062;0.03	B;B	0.31614	0.133;0.063	T	0.64394	-0.6418	10	0.48119	T	0.1	.	10.4058	0.44256	0.5756:0.0:0.4244:0.0	.	188;188	G3V364;Q96NI6	.;LRFN5_HUMAN	N	188	ENSP00000298119:K188N;ENSP00000451897:K188N;ENSP00000451067:K188N	ENSP00000298119:K188N	K	+	3	2	LRFN5	41426142	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	0.652000	0.24888	-0.148000	0.11234	0.650000	0.86243	AAG		0.423	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		T	42356392	G	T	42356392	3	4	506	1	0	0	0	0	1	0	0	0	8943	991	35	4	566	4	LRFN5	14	42356392	Missense_Mutation	SNP	G	TCGA-CJ-4878-01A-01D-1373-10		42356392	64993148	26	27380											
KIF23	9493	hgsc.bcm.edu;ucsc.edu	37	15	69714040	69714040	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr15:69714040T>C	ENST00000260363.4	+	4	382	c.265T>C	c.(265-267)Ttt>Ctt	p.F89L	KIF23_ENST00000537891.1_5'Flank|KIF23_ENST00000558585.1_5'Flank|KIF23_ENST00000395392.2_Missense_Mutation_p.F89L|KIF23_ENST00000559279.1_Missense_Mutation_p.F89L|KIF23_ENST00000352331.4_Missense_Mutation_p.F89L	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	89	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GAAGGAACTCTTTGATGTTGT	0.368																																																0													145	144	144					15																	69714040		2199	4298	6497	SO:0001583	missense	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.265T>C	15.37:g.69714040T>C	ENSP00000260363:p.Phe89Leu		Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942739	0.92526	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	T;T;T	0.78003	-1.14;-1.14;-1.14	5.88	5.88	0.94601	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.91915	0.7440	H	0.96943	3.91	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.72982	0.979;0.977	D	0.94364	0.7590	10	0.87932	D	0	.	15.1138	0.72384	0.0:0.0:0.0:1.0	.	89;89	Q02241-2;Q02241	.;KIF23_HUMAN	L	89	ENSP00000260363:F89L;ENSP00000304978:F89L;ENSP00000378790:F89L	ENSP00000260363:F89L	F	+	1	0	KIF23	67501094	1.000000	0.71417	0.997000	0.53966	0.633000	0.38033	7.898000	0.87363	2.250000	0.74265	0.482000	0.46254	TTT		0.368	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				C	69714040	T	C	69714040	3	2	506	1	0	0	0	0	1	0	0	0	8293	1609	56	3	279	3	KIF23	15	69714040	Missense_Mutation	SNP	T	TCGA-CJ-4878-01A-01D-1373-10		69714040	32817352	27	27381											
DECR2	26063	hgsc.bcm.edu	37	16	460352	460352	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr16:460352T>G	ENST00000219481.5	+	5	585	c.447T>G	c.(445-447)taT>taG	p.Y149*	DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000397710.1_Nonstop_Mutation_p.*212G|DECR2_ENST00000424398.2_Nonsense_Mutation_p.Y137*	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	149					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GTGTGCTCTATGAGAAGTTCT	0.587																																																0													127	107	114					16																	460352		2202	4300	6502	SO:0001587	stop_gained	26063			AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2754	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 17C, member 1"	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.447T>G	16.37:g.460352T>G	ENSP00000219481:p.Tyr149*		Q6ZRS7|Q96ET0	Nonsense_Mutation	SNP	ENST00000219481.5	37	CCDS10409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.194|9.194	1.026860|1.026860	0.19512|0.19512	.|.	.|.	ENSG00000242612|ENSG00000242612	ENST00000397710|ENST00000219481;ENST00000424398	.|.	.|.	.|.	5.64|5.64	-5.66|-5.66	0.02451|0.02451	.|.	.|0.157132	.|0.64402	.|D	.|0.000017	.|.	.|.	.|.	.|.	.|.	.|.	0.21386|0.21386	N|N	0.999702|0.999702	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.02654	.|T	.|1	.|.	13.7308|13.7308	0.62787|0.62787	0.0:0.3304:0.0:0.6696|0.0:0.3304:0.0:0.6696	.|.	.|.	.|.	.|.	G|X	212|149;137	.|.	.|ENSP00000219481:Y149X	X|Y	+|+	1|3	0|2	DECR2|DECR2	400353|400353	0.248000|0.248000	0.23930|0.23930	0.515000|0.515000	0.27774|0.27774	0.245000|0.245000	0.25701|0.25701	-0.451000|-0.451000	0.06795|0.06795	-1.425000|-1.425000	0.01997|0.01997	0.448000|0.448000	0.29417|0.29417	TGA|TAT		0.587	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		G	460352	T	G	460352	4	3	506	1	0	0	0	0	0	1	0	0	4385	1471	51	5	465	5	DECR2	16	460352	Nonsense_Mutation	SNP	T	TCGA-CJ-4878-01A-01D-1373-10		460352	89894401	28	27382											
RBBP6	5930	hgsc.bcm.edu;ucsc.edu	37	16	24573318	24573318	+	Silent	SNP	T	T	G			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr16:24573318T>G	ENST00000319715.4	+	10	1557	c.1125T>G	c.(1123-1125)tcT>tcG	p.S375S	RBBP6_ENST00000348022.2_Silent_p.S375S|RBBP6_ENST00000381039.3_Silent_p.S375S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	375					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAGTGACATCTTCATCAACTC	0.468																																																0													192	176	181					16																	24573318		2197	4300	6497	SO:0001819	synonymous_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1125T>G	16.37:g.24573318T>G			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	CCDS10621.1																																																																																				0.468	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		G	24573318	T	G	24573318	2	3	506	1	0	0	0	0	0	0	0	1	13109	1596	56	5		5	RBBP6	16	24573318	Silent	SNP	T	TCGA-CJ-4878-01A-01D-1373-10	24112966	24573318	65781435	29	27383											
USP36	57602	hgsc.bcm.edu	37	17	76810621	76810621	+	Missense_Mutation	SNP	G	G	A	rs568739495		TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr17:76810621G>A	ENST00000542802.3	-	11	1480	c.1037C>T	c.(1036-1038)cCg>cTg	p.P346L	USP36_ENST00000449938.2_Missense_Mutation_p.P46L|USP36_ENST00000588467.1_5'UTR|USP36_ENST00000312010.6_Missense_Mutation_p.P346L			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	346	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAGGAATTCCGGATAGCCTAC	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		20378	0.001		0.0	False		,,,				2504	0.0															0													100	82	88					17																	76810621		2203	4300	6503	SO:0001583	missense	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1037C>T	17.37:g.76810621G>A	ENSP00000441214:p.Pro346Leu		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350446	0.82132	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802;ENST00000432878	T;T;T	0.11495	2.77;2.77;2.77	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	H	0.96175	3.78	0.80722	D	1	D	0.69078	0.997	D	0.66716	0.946	T	0.66077	-0.6013	10	0.72032	D	0.01	-28.3893	18.2102	0.89867	0.0:0.0:1.0:0.0	.	346	Q9P275-2	.	L	346;46;346;346	ENSP00000310590:P346L;ENSP00000401119:P46L;ENSP00000441214:P346L	ENSP00000310590:P346L	P	-	2	0	USP36	74322216	1.000000	0.71417	0.404000	0.26397	0.583000	0.36354	9.691000	0.98679	2.392000	0.81423	0.561000	0.74099	CCG		0.418	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		A	76810621	G	A	76810621	3	1	506	1	0	0	0	0	1	0	0	0	17072	1116	39	1	2374	1	USP36	17	76810621	Missense_Mutation	SNP	G	TCGA-CJ-4878-01A-01D-1373-10		76810621	4384589	30	27384											
TXN2	25828	hgsc.bcm.edu;ucsc.edu	37	22	36872895	36872895	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr22:36872895C>G	ENST00000216185.2	-	3	738	c.272G>C	c.(271-273)gGa>gCa	p.G91A	TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.G91A			Q99757	THIOM_HUMAN	thioredoxin 2	91	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.	Contributes to redox potential value. {ECO:0000250}.			cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						CTTGCAGGGTCCACACCACCT	0.547																																																0													153	123	133					22																	36872895		2203	4300	6503	SO:0001583	missense	25828			U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.272G>C	22.37:g.36872895C>G	ENSP00000216185:p.Gly91Ala		Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	ENST00000216185.2	37	CCDS13928.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.306606	0.81247	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.09163	3.01;3.01	5.17	5.17	0.71159	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.21307	0.0513	M	0.64630	1.985	0.80722	D	1	P	0.51653	0.947	P	0.48030	0.564	T	0.00992	-1.1488	10	0.87932	D	0	-7.9483	18.7023	0.91625	0.0:1.0:0.0:0.0	.	91	Q99757	THIOM_HUMAN	A	91	ENSP00000216185:G91A;ENSP00000385393:G91A	ENSP00000216185:G91A	G	-	2	0	TXN2	35202841	1.000000	0.71417	0.998000	0.56505	0.657000	0.38888	7.579000	0.82511	2.426000	0.82243	0.450000	0.29827	GGA		0.547	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473		G	36872895	C	G	36872895	3	3	506	1	0	0	0	0	1	0	0	0	16796	855	30	4	236	4	TXN2	22	36872895	Missense_Mutation	SNP	C	TCGA-CJ-4878-01A-01D-1373-10		36872895	14431671	31	27385											
PARVG	64098	hgsc.bcm.edu;ucsc.edu	37	22	44592248	44592248	+	Missense_Mutation	SNP	C	C	A	rs375369681		TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chr22:44592248C>A	ENST00000444313.3	+	11	1148	c.664C>A	c.(664-666)Cag>Aag	p.Q222K	PARVG_ENST00000415224.1_Missense_Mutation_p.Q222K|PARVG_ENST00000422871.1_Missense_Mutation_p.Q222K	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	222	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CTTTGTCAACCAGAAGCTGGA	0.622																																																0													109	98	102					22																	44592248		2203	4300	6503	SO:0001583	missense	64098			AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.664C>A	22.37:g.44592248C>A	ENSP00000391583:p.Gln222Lys		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	C	2.900	-0.227768	0.06022	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	D;D;D	0.94280	-3.39;-3.39;-3.39	4.87	2.5	0.30297	Calponin homology domain (5);	0.209095	0.42172	D	0.000750	T	0.78304	0.4262	N	0.02775	-0.495	0.37570	D	0.91941	B	0.14012	0.009	B	0.17098	0.017	T	0.71619	-0.4538	10	0.02654	T	1	-10.7853	8.3466	0.32277	0.2535:0.613:0.1334:0.0	.	222	Q9HBI0	PARVG_HUMAN	K	222	ENSP00000391453:Q222K;ENSP00000391583:Q222K;ENSP00000416761:Q222K	ENSP00000416761:Q222K	Q	+	1	0	PARVG	42923581	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.357000	0.20199	1.002000	0.39104	0.650000	0.86243	CAG		0.622	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		A	44592248	C	A	44592248	3	1	506	1	0	0	0	0	1	0	0	0	11472	595	21	4	698	4	PARVG	22	44592248	Missense_Mutation	SNP	C	TCGA-CJ-4878-01A-01D-1373-10	7719353	44592248	6712318	32	27386											
FGD1	2245	hgsc.bcm.edu;ucsc.edu	37	X	54491907	54491907	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4878-01A-01D-1373-10	TCGA-CJ-4878-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	19049209-7ee5-4198-8a2c-036bce104f89	b62cf3a9-0b6e-42a4-9e72-5751abb2c017	g.chrX:54491907G>A	ENST00000375135.3	-	8	2346	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	538	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGTCCGGGGAGCCATGGGG	0.577																																																0													45	42	43					X																	54491907		2203	4300	6503	SO:0001583	missense	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1613C>T	X.37:g.54491907G>A	ENSP00000364277:p.Ser538Phe		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860505	0.91433	.	.	ENSG00000102302	ENST00000375135	T	0.64803	-0.12	5.43	5.43	0.79202	Dbl homology (DH) domain (5);	0.000000	0.52532	D	0.000079	T	0.77955	0.4208	M	0.74647	2.275	0.54753	D	0.99998	P;P	0.45957	0.869;0.869	P;P	0.59948	0.866;0.797	T	0.80527	-0.1343	10	0.87932	D	0	-0.9915	17.0002	0.86380	0.0:0.0:1.0:0.0	.	296;538	B4DS99;P98174	.;FGD1_HUMAN	F	538	ENSP00000364277:S538F	ENSP00000364277:S538F	S	-	2	0	FGD1	54508632	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.702000	0.98712	2.277000	0.76020	0.523000	0.50628	TCC		0.577	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		A	54491907	G	A	54491907	3	1	506	1	0	0	0	0	1	0	0	0	5834	1174	41	2	1316	2	FGD1	23	54491907	Missense_Mutation	SNP	G	TCGA-CJ-4878-01A-01D-1373-10		54491907	100778653	33	27387											
NBPF3	84224	hgsc.bcm.edu	37	1	21806704	21806704	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:21806704C>G	ENST00000318249.5	+	11	1719	c.1369C>G	c.(1369-1371)Ctt>Gtt	p.L457V	NBPF3_ENST00000454000.2_Missense_Mutation_p.L387V|NBPF3_ENST00000342104.5_Missense_Mutation_p.L445V|NBPF3_ENST00000318220.6_Missense_Mutation_p.L401V	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	457	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCTTGGCTCTTGACTTGGA	0.458																																																0													64	35	45					1																	21806704		2181	4053	6234	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1369C>G	1.37:g.21806704C>G	ENSP00000316782:p.Leu457Val		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	1.099	-0.661623	0.03454	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.11110	0.0271	L	0.43152	1.355	0.09310	N	1	B;B;B	0.20052	0.014;0.041;0.003	B;B;B	0.21360	0.034;0.018;0.003	T	0.31779	-0.9931	8	0.28530	T	0.3	.	.	.	.	.	387;445;457	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	V	387;401;457;445;401	ENSP00000415711:L387V;ENSP00000316739:L401V;ENSP00000316782:L457V;ENSP00000340336:L445V;ENSP00000391865:L401V	ENSP00000316739:L401V	L	+	1	0	NBPF3	21679291	0.010000	0.17322	0.001000	0.08648	0.013000	0.08279	1.013000	0.29937	0.675000	0.31264	0.121000	0.15741	CTT		0.458	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		G	21806704	C	G	21806704	3	3	507	1	0	0	0	0	1	0	0	0	10199	913	32	4	1407	4	NBPF3	1	21806704	Missense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10		21806704	227443917	1	27388											
ELAVL4	1996	hgsc.bcm.edu	37	1	50666792	50666792	+	Missense_Mutation	SNP	G	G	T	rs377132231		TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:50666792G>T	ENST00000371823.4	+	7	1309	c.1085G>T	c.(1084-1086)cGc>cTc	p.R362L	ELAVL4_ENST00000371827.1_Missense_Mutation_p.R348L|ELAVL4_ENST00000371824.1_Missense_Mutation_p.R348L|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R351L|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R365L|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R353L|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R367L	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	362	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R362H(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AACGGGTACCGCCTGGGAGAC	0.443																																																1	Substitution - Missense(1)	ovary(1)											51	48	49					1																	50666792		2203	4300	6503	SO:0001583	missense	1996			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.1085G>T	1.37:g.50666792G>T	ENSP00000360888:p.Arg362Leu		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769436	0.49680	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	N	0.11131	0.1	0.80722	D	1	B;B;P;B;B;P	0.43477	0.443;0.271;0.808;0.389;0.389;0.648	B;B;P;B;B;B	0.48873	0.27;0.07;0.593;0.112;0.176;0.374	T	0.06807	-1.0806	10	0.28530	T	0.3	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	353;348;362;365;348;351	B1APY9;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;ELAV4_HUMAN;.;.;.	L	351;348;365;348;362;367;353	ENSP00000399939:R351L;ENSP00000360892:R348L;ENSP00000349594:R365L;ENSP00000360889:R348L;ENSP00000360888:R362L;ENSP00000360886:R367L;ENSP00000360884:R353L	ENSP00000349594:R365L	R	+	2	0	ELAVL4	50439379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.885000	0.99019	0.655000	0.94253	CGC		0.443	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		T	50666792	G	T	50666792	3	4	507	1	0	0	0	0	1	0	0	0	5054	1087	38	4	1210	4	ELAVL4	1	50666792	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	28860088	50666792	198583829	2	27389											
PTGFR	5737	hgsc.bcm.edu	37	1	78958515	78958515	+	Silent	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:78958515C>A	ENST00000370757.3	+	2	324	c.87C>A	c.(85-87)tcC>tcA	p.S29S	PTGFR_ENST00000370758.1_Silent_p.S29S|PTGFR_ENST00000370756.3_Silent_p.S29S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	29					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	ACCGGCTTTCCGTATTTTTTT	0.438																																																0													80	83	82					1																	78958515		2203	4300	6503	SO:0001819	synonymous_variant	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.87C>A	1.37:g.78958515C>A			A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Silent	SNP	ENST00000370757.3	37	CCDS686.1																																																																																				0.438	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		A	78958515	C	A	78958515	2	1	507	1	0	0	0	0	0	0	0	1	12755	639	23	4		4	PTGFR	1	78958515	Silent	SNP	C	TCGA-CJ-4881-01A-01D-1373-10	28291723	78958515	170292106	3	27390											
FLAD1	80308	hgsc.bcm.edu	37	1	154960802	154960802	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:154960802G>A	ENST00000292180.3	+	2	916	c.594G>A	c.(592-594)gaG>gaA	p.E198E	FLAD1_ENST00000405236.2_Silent_p.E99E|FLAD1_ENST00000295530.2_De_novo_Start_InFrame|FLAD1_ENST00000368431.3_Silent_p.E99E|FLAD1_ENST00000315144.10_Silent_p.E101E|FLAD1_ENST00000368433.1_Silent_p.E198E|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000368432.1_Silent_p.E101E|FLAD1_ENST00000368428.1_5'Flank	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	198	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGGAGATGAGCTGAAGCCAC	0.582																																																0													94	95	94					1																	154960802		2203	4300	6503	SO:0001819	synonymous_variant	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.594G>A	1.37:g.154960802G>A			Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	ENST00000292180.3	37	CCDS1078.1																																																																																				0.582	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		A	154960802	G	A	154960802	2	1	507	1	0	0	0	0	0	0	0	1	5922	962	34	2		2	FLAD1	1	154960802	Silent	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	76002287	154960802	94289819	4	27391											
BCAN	63827	hgsc.bcm.edu	37	1	156622354	156622354	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:156622354C>G	ENST00000329117.5	+	8	1948	c.1612C>G	c.(1612-1614)Cca>Gca	p.P538A	BCAN_ENST00000361588.5_Missense_Mutation_p.P538A|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	538					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCCATGGACCACCTACTGA	0.607																																																0													41	40	40					1																	156622354		2203	4300	6503	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1612C>G	1.37:g.156622354C>G	ENSP00000331210:p.Pro538Ala		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368645	0.42003	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.12774	2.65;3.31	4.59	3.67	0.42095	.	0.266613	0.23678	N	0.045642	T	0.03053	0.0090	L	0.27053	0.805	0.09310	N	1	P;P	0.52316	0.622;0.952	B;B	0.43413	0.112;0.419	T	0.30504	-0.9976	10	0.10636	T	0.68	-7.9822	9.8029	0.40775	0.2053:0.7947:0.0:0.0	.	538;538	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	A	477;538;538	ENSP00000331210:P538A;ENSP00000354925:P538A	ENSP00000255029:P477A	P	+	1	0	BCAN	154888978	0.972000	0.33761	0.167000	0.22817	0.973000	0.67179	3.340000	0.52143	1.129000	0.42072	0.455000	0.32223	CCA		0.607	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		G	156622354	C	G	156622354	3	3	507	1	0	0	0	0	1	0	0	0	1345	507	18	4	1638	4	BCAN	1	156622354	Missense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10	1661552	156622354	92628267	5	27392											
NUF2	83540	hgsc.bcm.edu;ucsc.edu	37	1	163297295	163297295	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:163297295G>A	ENST00000271452.3	+	3	420	c.141G>A	c.(139-141)atG>atA	p.M47I	NUF2_ENST00000524800.1_Missense_Mutation_p.M47I|NUF2_ENST00000367900.3_Missense_Mutation_p.M47I|NUF2_ENST00000490881.1_3'UTR	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	47	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCTTGCACATGATCTACATGA	0.333																																																0													180	178	179					1																	163297295		2203	4300	6503	SO:0001583	missense	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.141G>A	1.37:g.163297295G>A	ENSP00000271452:p.Met47Ile		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681260	0.47991	.	.	ENSG00000143228	ENST00000534289;ENST00000450453;ENST00000524800;ENST00000442820;ENST00000367900;ENST00000271452	T;T;T	0.32023	1.48;1.47;1.47	5.11	4.17	0.49024	.	0.327366	0.39985	N	0.001214	T	0.14098	0.0341	L	0.53249	1.67	0.37961	D	0.932972	B;B;B	0.33612	0.419;0.419;0.014	B;B;B	0.27076	0.076;0.076;0.022	T	0.06303	-1.0834	9	0.37606	T	0.19	-12.1037	13.0105	0.58729	0.0:0.1625:0.8375:0.0	.	47;47;47	E9PQC4;Q9BZD4;B1AQT4	.;NUF2_HUMAN;.	I	47	ENSP00000436888:M47I;ENSP00000356875:M47I;ENSP00000271452:M47I	ENSP00000271452:M47I	M	+	3	0	NUF2	161563919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.008000	0.63991	1.464000	0.47987	0.655000	0.94253	ATG		0.333	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		A	163297295	G	A	163297295	3	1	507	1	0	0	0	0	1	0	0	0	10749	1290	45	2	147	2	NUF2	1	163297295	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	6674941	163297295	85953326	6	27393											
MIA3	375056	hgsc.bcm.edu;ucsc.edu	37	1	222826679	222826679	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:222826679G>C	ENST00000344922.5	+	15	4344	c.4319G>C	c.(4318-4320)gGa>gCa	p.G1440A	MIA3_ENST00000340535.7_Missense_Mutation_p.G318A|MIA3_ENST00000344441.6_Missense_Mutation_p.G1440A|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1440					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGAGAAGTGGGAGGTAAGATC	0.428																																																0													107	104	105					1																	222826679		1920	4122	6042	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4319G>C	1.37:g.222826679G>C	ENSP00000340900:p.Gly1440Ala		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	8.936	0.964608	0.18583	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.40225	1.24;1.24;1.04	5.56	-0.198	0.13224	.	.	.	.	.	T	0.32496	0.0831	L	0.31294	0.92	0.22745	N	0.998785	B;B;B	0.19331	0.02;0.035;0.024	B;B;B	0.20767	0.027;0.031;0.025	T	0.27434	-1.0074	9	0.08837	T	0.75	.	21.2306	0.99949	0.0:0.7999:0.2001:0.0	.	1381;318;1440	Q5JRA6-2;Q5JRA6-4;Q5JRA6	.;.;MIA3_HUMAN	A	1440;1440;1381;318;318	ENSP00000340900:G1440A;ENSP00000340587:G1440A;ENSP00000345866:G318A	ENSP00000284471:G318A	G	+	2	0	MIA3	220893302	1.000000	0.71417	0.696000	0.30242	0.482000	0.33219	1.890000	0.39728	0.007000	0.14760	-0.266000	0.10368	GGA		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		C	222826679	G	C	222826679	3	2	507	1	0	0	0	0	1	0	0	0	9567	1174	41	4	4377	4	MIA3	1	222826679	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	59529384	222826679	26423942	7	27394											
C1orf55	163859	hgsc.bcm.edu;ucsc.edu	37	1	226180618	226180618	+	Silent	SNP	T	T	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:226180618T>C	ENST00000272091.7	-	3	342	c.324A>G	c.(322-324)agA>agG	p.R108R		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	108																	CATCGCGTAGTCTCCTTCCAC	0.418																																																0													95	86	89					1																	226180618		1881	4108	5989	SO:0001819	synonymous_variant	0			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 55"	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.324A>G	1.37:g.226180618T>C			A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Silent	SNP	ENST00000272091.7	37	CCDS41473.1																																																																																				0.418	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		C	226180618	T	C	226180618	2	2	507	1	0	0	0	0	0	0	0	1	2049	1664	58	3		3	C1orf55	1	226180618	Silent	SNP	T	TCGA-CJ-4881-01A-01D-1373-10	3353939	226180618	23070003	8	27395											
GALNT2	2590	hgsc.bcm.edu;ucsc.edu	37	1	230410256	230410256	+	Silent	SNP	G	G	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:230410256G>C	ENST00000366672.4	+	15	1578	c.1506G>C	c.(1504-1506)cgG>cgC	p.R502R	GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Silent_p.R464R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	502	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGGTGGACCGGGCACCGGGCT	0.557																																																0													81	83	82					1																	230410256		2203	4300	6503	SO:0001819	synonymous_variant	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1506G>C	1.37:g.230410256G>C			A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	CCDS1582.1																																																																																				0.557	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		C	230410256	G	C	230410256	2	2	507	1	0	0	0	0	0	0	0	1	6215	1219	43	4		4	GALNT2	1	230410256	Silent	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	4229638	230410256	18840365	9	27396											
ITGA6	3655	hgsc.bcm.edu;ucsc.edu	37	2	173356019	173356019	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr2:173356019T>C	ENST00000264106.6	+	23	3169	c.2966T>C	c.(2965-2967)cTt>cCt	p.L989P	ITGA6_ENST00000264107.7_Missense_Mutation_p.L950P|ITGA6_ENST00000409080.1_Missense_Mutation_p.L950P|ITGA6_ENST00000375221.2_Missense_Mutation_p.L989P|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Missense_Mutation_p.L945P|ITGA6_ENST00000409532.1_Missense_Mutation_p.L831P			P23229	ITA6_HUMAN	integrin, alpha 6	989					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAGGCGTCTCTTATTTTGCGC	0.478																																																0													137	137	137					2																	173356019		2203	4300	6503	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2966T>C	2.37:g.173356019T>C	ENSP00000264106:p.Leu989Pro		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	T	15.09	2.730889	0.48939	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.21	5.21	0.72293	.	0.324266	0.31673	N	0.007244	T	0.69833	0.3155	M	0.68952	2.095	0.53005	D	0.999967	P;D;P;P	0.53462	0.775;0.96;0.759;0.876	P;D;P;P	0.66847	0.477;0.947;0.5;0.575	T	0.73655	-0.3914	10	0.87932	D	0	.	15.0707	0.72034	0.0:0.0:0.0:1.0	.	945;974;950;950	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	P	831;950;989;989;945;950;989;945;117	ENSP00000386614:L831P;ENSP00000264107:L950P;ENSP00000264106:L989P;ENSP00000364369:L989P;ENSP00000341078:L945P;ENSP00000386896:L950P;ENSP00000406694:L989P;ENSP00000394169:L945P;ENSP00000388435:L117P	ENSP00000264106:L989P	L	+	2	0	ITGA6	173064265	0.990000	0.36364	0.018000	0.16275	0.281000	0.26958	7.634000	0.83273	1.968000	0.57251	0.383000	0.25322	CTT		0.478	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				C	173356019	T	C	173356019	3	2	507	1	0	0	0	0	1	0	0	0	7882	1609	56	3	2935	3	ITGA6	2	173356019	Missense_Mutation	SNP	T	TCGA-CJ-4881-01A-01D-1373-10		173356019	69843354	10	27397											
NEK10	152110	hgsc.bcm.edu	37	3	27350480	27350480	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr3:27350480A>T	ENST00000429845.2	-	11	1015	c.653T>A	c.(652-654)cTt>cAt	p.L218H	NEK10_ENST00000341435.5_Missense_Mutation_p.L218H			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	218					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGGGCACCAAGTAAATTTAC	0.303																																																0													53	48	49					3																	27350480		1567	3580	5147	SO:0001583	missense	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.653T>A	3.37:g.27350480A>T	ENSP00000395849:p.Leu218His		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37		.	.	.	.	.	.	.	.	.	.	A	23.6	4.437605	0.83885	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.65916	-0.18	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000016	T	0.77772	0.4180	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.80264	-0.1455	10	0.87932	D	0	.	15.9377	0.79729	1.0:0.0:0.0:0.0	.	218	Q6ZWH5	NEK10_HUMAN	H	218	ENSP00000343847:L218H	ENSP00000343847:L218H	L	-	2	0	NEK10	27325484	1.000000	0.71417	0.897000	0.35233	0.990000	0.78478	6.088000	0.71371	2.159000	0.67721	0.528000	0.53228	CTT		0.303	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		T	27350480	A	T	27350480	3	4	507	1	0	0	0	0	1	0	0	0	10324	72	3	5	1545	5	NEK10	3	27350480	Missense_Mutation	SNP	A	TCGA-CJ-4881-01A-01D-1373-10		27350480	170671950	11	27398											
BAP1	51533	hgsc.bcm.edu;ucsc.edu	37	3	52442600	52442600	+	5'Flank	SNP	G	G	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr3:52442600G>C	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Missense_Mutation_p.L49V|BAP1_ENST00000296288.5_Missense_Mutation_p.L49V|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.L49V(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CATTTGAACAGGAAGATAAAT	0.473																																																1	Substitution - Missense(1)	breast(1)											35	34	34					3																	52442600		2203	4299	6502	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442600G>C	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164508	0.78339	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61859	0.07;0.07	5.43	3.63	0.41609	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.64402	D	0.000001	D	0.82462	0.5042	H	0.97023	3.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85958	0.1468	10	0.87932	D	0	-2.3505	11.8105	0.52179	0.143:0.0:0.857:0.0	.	49	Q92560	BAP1_HUMAN	V	49	ENSP00000417132:L49V;ENSP00000296288:L49V	ENSP00000296288:L49V	L	-	1	2	BAP1	52417640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.538000	0.53597	0.668000	0.31126	-0.140000	0.14226	CTG		0.473	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		C	52442600	G	C	52442600	1	2	507	0	1	0	0	0	0	0	0	0	1311	991	35	4		4	BAP1	3	52442600	5'Flank	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	25092120	52442600	145579830	12	27399											
RPN1	6184	hgsc.bcm.edu	37	3	128356662	128356662	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr3:128356662C>A	ENST00000296255.3	-	3	661	c.613G>T	c.(613-615)Gat>Tat	p.D205Y	RPN1_ENST00000497289.1_Missense_Mutation_p.D33Y	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	205					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GCAGGCACATCTCTGAAAGGC	0.537			T	EVI1	AML																																		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													109	104	105					3																	128356662		2203	4300	6503	SO:0001583	missense	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.613G>T	3.37:g.128356662C>A	ENSP00000296255:p.Asp205Tyr		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403734	0.83230	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000545956	.	.	.	5.68	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.86028	2.79	0.80722	D	1	D	0.60160	0.987	D	0.65323	0.934	T	0.83056	-0.0150	9	0.62326	D	0.03	-10.6123	14.6127	0.68526	0.0:0.9298:0.0:0.0702	.	205	P04843	RPN1_HUMAN	Y	205;33;179	.	ENSP00000296255:D205Y	D	-	1	0	RPN1	129839352	1.000000	0.71417	0.032000	0.17829	0.970000	0.65996	4.567000	0.60850	1.405000	0.46838	0.591000	0.81541	GAT		0.537	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		A	128356662	C	A	128356662	3	1	507	1	0	0	0	0	1	0	0	0	13613	913	32	4	1242	4	RPN1	3	128356662	Missense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10	75914062	128356662	69665768	13	27400											
MYNN	55892	hgsc.bcm.edu	37	3	169504386	169504386	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr3:169504386C>G	ENST00000349841.5	+	8	2416	c.1753C>G	c.(1753-1755)Cct>Gct	p.P585A	MYNN_ENST00000544106.1_Missense_Mutation_p.P556A|MYNN_ENST00000356716.4_Missense_Mutation_p.P585A	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TACTCAGTCTCCTACATCAGA	0.398																																																0													96	90	92					3																	169504386		2203	4300	6503	SO:0001583	missense	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1753C>G	3.37:g.169504386C>G	ENSP00000326240:p.Pro585Ala		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567556	0.28003	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000544106	T;T;T	0.09255	3.15;3.15;3.0	5.25	4.38	0.52667	.	0.183048	0.38272	N	0.001753	T	0.08133	0.0203	N	0.24115	0.695	0.80722	D	1	P;B	0.37330	0.59;0.162	B;B	0.35413	0.202;0.037	T	0.34527	-0.9825	10	0.30078	T	0.28	.	13.7345	0.62809	0.0:0.9256:0.0:0.0744	.	556;585	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	A	585;585;556	ENSP00000349150:P585A;ENSP00000326240:P585A;ENSP00000440637:P556A	ENSP00000326240:P585A	P	+	1	0	MYNN	170987080	1.000000	0.71417	0.950000	0.38849	0.081000	0.17604	2.622000	0.46427	1.235000	0.43724	-0.339000	0.08088	CCT		0.398	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		G	169504386	C	G	169504386	3	3	507	1	0	0	0	0	1	0	0	0	10063	855	30	4	1779	4	MYNN	3	169504386	Missense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10	41147724	169504386	28518044	14	27401											
PPEF2	5470	hgsc.bcm.edu	37	4	76797629	76797629	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr4:76797629G>A	ENST00000286719.7	-	11	1487	c.1131C>T	c.(1129-1131)tgC>tgT	p.C377C		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	377	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.C377*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGGAACCGCTGCAGGGGATGC	0.662																																					NSCLC(105;1359 1603 15961 44567 47947)											1	Substitution - Nonsense(1)	ovary(1)											34	35	35					4																	76797629		2203	4300	6503	SO:0001819	synonymous_variant	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1131C>T	4.37:g.76797629G>A			O14831	Silent	SNP	ENST00000286719.7	37	CCDS34013.1																																																																																				0.662	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		A	76797629	G	A	76797629	2	1	507	1	0	0	0	0	0	0	0	1	12310	1311	46	2		2	PPEF2	4	76797629	Silent	SNP	G	TCGA-CJ-4881-01A-01D-1373-10		76797629	114356647	15	27402											
SLU7	10569	hgsc.bcm.edu;ucsc.edu	37	5	159833540	159833540	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr5:159833540T>G	ENST00000297151.4	-	12	1609	c.1222A>C	c.(1222-1224)Aaa>Caa	p.K408Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	408					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGTCCTTTGATGACTGTC	0.463																																																0													155	130	138					5																	159833540		2203	4300	6503	SO:0001583	missense	10569			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1222A>C	5.37:g.159833540T>G	ENSP00000297151:p.Lys408Gln		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833956	0.91036	.	.	ENSG00000164609	ENST00000297151	T	0.38560	1.13	6.07	4.91	0.64330	Pre-mRNA splicing Prp18-interacting factor (1);	0.133797	0.64402	D	0.000002	T	0.68348	0.2991	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.74077	-0.3781	10	0.87932	D	0	-7.4224	12.2474	0.54578	0.0:0.0661:0.0:0.9339	.	408	O95391	SLU7_HUMAN	Q	408	ENSP00000297151:K408Q	ENSP00000297151:K408Q	K	-	1	0	SLU7	159766118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.621000	0.83083	1.114000	0.41781	0.533000	0.62120	AAA		0.463	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		G	159833540	T	G	159833540	3	3	507	1	0	0	0	0	1	0	0	0	14761	1821	63	5	558	5	SLU7	5	159833540	Missense_Mutation	SNP	T	TCGA-CJ-4881-01A-01D-1373-10		159833540	21081720	16	27403											
TNFRSF21	27242	hgsc.bcm.edu;ucsc.edu	37	6	47251933	47251933	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr6:47251933G>A	ENST00000296861.2	-	3	1377	c.984C>T	c.(982-984)atC>atT	p.I328I		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	328					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGGGGCCCTTGATGGGCGTGC	0.562																																																0													178	171	173					6																	47251933		2203	4300	6503	SO:0001819	synonymous_variant	27242			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.984C>T	6.37:g.47251933G>A			B2RDI9|Q0D2P5|Q96D86	Silent	SNP	ENST00000296861.2	37	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	9.303	1.053708	0.19907	.	.	ENSG00000146072	ENST00000419206	.	.	.	5.91	5.04	0.67666	.	.	.	.	.	T	0.68842	0.3045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74624	-0.3603	5	0.72032	D	0.01	.	15.4258	0.75048	0.0:0.2832:0.7168:0.0	.	.	.	.	L	18	.	ENSP00000390032:S18L	S	-	2	0	TNFRSF21	47359892	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.620000	0.61226	1.480000	0.48289	-0.211000	0.12701	TCA		0.562	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		A	47251933	G	A	47251933	2	1	507	1	0	0	0	0	0	0	0	1	16300	1280	45	2		2	TNFRSF21	6	47251933	Silent	SNP	G	TCGA-CJ-4881-01A-01D-1373-10		47251933	123863134	17	27404											
PRKDC	5591	hgsc.bcm.edu	37	8	48711870	48711870	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr8:48711870A>T	ENST00000314191.2	-	73	10251	c.10195T>A	c.(10195-10197)Tcc>Acc	p.S3399T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S3399T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3400	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAGCTCCAGGAGGGAGGCTGG	0.587								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											0													79	82	81					8																	48711870		2002	4174	6176	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10195T>A	8.37:g.48711870A>T	ENSP00000313420:p.Ser3399Thr		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	A	12.44	1.939990	0.34283	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.70045	-0.45;-0.45	5.6	-10.3	0.00346	PIK-related kinase (1);PIK-related kinase, FAT (1);	1.229190	0.05534	N	0.564544	T	0.28333	0.0700	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.01	T	0.21861	-1.0233	10	0.05620	T	0.96	.	2.2404	0.04018	0.5133:0.1617:0.2112:0.1139	.	3399;3400	E7EUY0;P78527	.;PRKDC_HUMAN	T	3399	ENSP00000313420:S3399T;ENSP00000345182:S3399T	ENSP00000313420:S3399T	S	-	1	0	PRKDC	48874423	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-0.229000	0.09098	-1.541000	0.01727	0.533000	0.62120	TCC		0.587	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		T	48711870	A	T	48711870	3	4	507	1	0	0	0	0	1	0	0	0	12526	304	11	5	2248	5	PRKDC	8	48711870	Missense_Mutation	SNP	A	TCGA-CJ-4881-01A-01D-1373-10		48711870	97652152	18	27405											
ABRA	137735	hgsc.bcm.edu	37	8	107773283	107773283	+	Silent	SNP	C	C	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr8:107773283C>G	ENST00000311955.3	-	2	1182	c.1128G>C	c.(1126-1128)gtG>gtC	p.V376V		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTAGCGTAATCACAACATGGT	0.418																																																0													206	191	196					8																	107773283		2203	4300	6503	SO:0001819	synonymous_variant	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.1128G>C	8.37:g.107773283C>G				Silent	SNP	ENST00000311955.3	37	CCDS6305.1																																																																																				0.418	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		G	107773283	C	G	107773283	2	3	507	1	0	0	0	0	0	0	0	1	100	813	29	4		4	ABRA	8	107773283	Silent	SNP	C	TCGA-CJ-4881-01A-01D-1373-10	59061413	107773283	38590739	19	27406											
FAM83A	84985	hgsc.bcm.edu	37	8	124195554	124195554	+	Missense_Mutation	SNP	G	G	A	rs376602872		TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr8:124195554G>A	ENST00000518448.1	+	2	2472	c.458G>A	c.(457-459)cGc>cAc	p.R153H	RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000546351.1_Missense_Mutation_p.R153H|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_Missense_Mutation_p.R153H|FAM83A_ENST00000318462.6_Missense_Mutation_p.R153H|FAM83A_ENST00000276699.6_Missense_Mutation_p.R153H|FAM83A_ENST00000522648.1_Missense_Mutation_p.R153H			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	153								p.R153H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTCGTCCGCCGCTGCATCACC	0.607																																																1	Substitution - Missense(1)	ovary(1)						G	HIS/ARG,HIS/ARG	0,4394		0,0,2197	54	56	55		458,458	5.5	1	8		55	1,8587		0,1,4293	no	missense,missense	FAM83A	NM_032899.4,NM_207006.1	29,29	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	153/435,153/368	124195554	1,12981	2197	4294	6491	SO:0001583	missense	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.458G>A	8.37:g.124195554G>A	ENSP00000428876:p.Arg153His		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589895	0.86851	0.0	1.16E-4	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.14391	2.51;2.86;2.51;2.51;2.86;2.51	5.46	5.46	0.80206	.	0.116123	0.64402	D	0.000011	T	0.40791	0.1131	M	0.76574	2.34	0.41628	D	0.989009	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.977;0.955;0.989	T	0.25676	-1.0125	10	0.66056	D	0.02	-33.6774	19.2957	0.94120	0.0:0.0:1.0:0.0	.	153;153;153	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	H	153	ENSP00000428876:R153H;ENSP00000440565:R153H;ENSP00000445218:R153H;ENSP00000323034:R153H;ENSP00000427979:R153H;ENSP00000276699:R153H	ENSP00000276699:R153H	R	+	2	0	FAM83A	124264735	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.362000	0.52314	2.548000	0.85928	0.561000	0.74099	CGC		0.607	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		A	124195554	G	A	124195554	3	1	507	1	0	0	0	0	1	0	0	0	5635	1087	38	1	460	1	FAM83A	8	124195554	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	16422271	124195554	22168468	20	27407											
DENND4C	55667	hgsc.bcm.edu	37	9	19331996	19331996	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr9:19331996A>T	ENST00000380432.2	+	13	1599	c.1566A>T	c.(1564-1566)aaA>aaT	p.K522N	DENND4C_ENST00000434457.2_Missense_Mutation_p.K758N|DENND4C_ENST00000602925.1_Missense_Mutation_p.K758N			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	522					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CAGCTCATAAATTGGCGAAGA	0.363																																																0													104	93	97					9																	19331996		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1566A>T	9.37:g.19331996A>T	ENSP00000369797:p.Lys522Asn		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37		.	.	.	.	.	.	.	.	.	.	A	15.30	2.793331	0.50102	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.87	-1.57	0.08506	.	0.298583	0.41712	D	0.000832	T	0.59362	0.2188	L	0.58583	1.82	0.80722	D	1	D	0.62365	0.991	P	0.53518	0.728	T	0.61559	-0.7038	9	0.87932	D	0	-19.7422	10.4073	0.44272	0.6149:0.0:0.3851:0.0	.	522	Q5VZ89	DEN4C_HUMAN	N	522	.	ENSP00000369802:K522N	K	+	3	2	DENND4C	19321996	0.999000	0.42202	0.992000	0.48379	0.998000	0.95712	0.848000	0.27710	-0.314000	0.08716	0.533000	0.62120	AAA		0.363	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		T	19331996	A	T	19331996	3	4	507	1	0	0	0	0	1	0	0	0	4437	98	4	5	1616	5	DENND4C	9	19331996	Missense_Mutation	SNP	A	TCGA-CJ-4881-01A-01D-1373-10		19331996	121881435	21	27408											
FAM75A3	727830	hgsc.bcm.edu	37	9	40704227	40704227	+	Silent	SNP	C	C	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr9:40704227C>T	ENST00000356699.5	+	4	1913	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	628					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGCTTCAGGACGAATCACCAG	0.537																																																0													14	12	12					9																	40704227		1412	2691	4103	SO:0001819	synonymous_variant	0					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.1884C>T	9.37:g.40704227C>T				Silent	SNP	ENST00000356699.5	37	CCDS47969.1																																																																																				0.537	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		T	40704227	C	T	40704227	2	4	507	1	0	0	0	0	0	0	0	1	5623	535	19	1		1	FAM75A3	9	40704227	Silent	SNP	C	TCGA-CJ-4881-01A-01D-1373-10	21372231	40704227	100509204	22	27409											
PDE6C	5146	hgsc.bcm.edu;ucsc.edu	37	10	95372619	95372619	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr10:95372619C>A	ENST00000371447.3	+	1	275	c.137C>A	c.(136-138)tCc>tAc	p.S46Y		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	46					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CCAGTCCAGTCCAGCATGTCC	0.602																																																0													99	98	98					10																	95372619		2203	4300	6503	SO:0001583	missense	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.137C>A	10.37:g.95372619C>A	ENSP00000360502:p.Ser46Tyr		A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	C	7.209	0.594978	0.13875	.	.	ENSG00000095464	ENST00000371447	T	0.64438	-0.1	4.77	1.48	0.22813	.	1.147620	0.06246	N	0.691336	T	0.42086	0.1187	N	0.08118	0	0.09310	N	1	B	0.31859	0.343	B	0.30495	0.116	T	0.40040	-0.9584	10	0.59425	D	0.04	.	7.9435	0.29971	0.5396:0.3442:0.1162:0.0	.	46	P51160	PDE6C_HUMAN	Y	46	ENSP00000360502:S46Y	ENSP00000360502:S46Y	S	+	2	0	PDE6C	95362609	0.094000	0.21725	0.004000	0.12327	0.415000	0.31203	0.648000	0.24828	0.566000	0.29273	0.655000	0.94253	TCC		0.602	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		A	95372619	C	A	95372619	3	1	507	1	0	0	0	0	1	0	0	0	11649	855	30	4	139	4	PDE6C	10	95372619	Missense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10		95372619	40162128	23	27410											
ADAMTS20	80070	hgsc.bcm.edu;ucsc.edu	37	12	43825222	43825222	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:43825222G>A	ENST00000389420.3	-	22	3173	c.3174C>T	c.(3172-3174)ggC>ggT	p.G1058G	ADAMTS20_ENST00000395541.2_Silent_p.G212G|ADAMTS20_ENST00000553158.1_Silent_p.G1058G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1058	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATTACAGAAGCCATCACTCA	0.428																																																0													179	154	162					12																	43825222		2203	4300	6503	SO:0001819	synonymous_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3174C>T	12.37:g.43825222G>A			A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																				0.428	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43825222	G	A	43825222	2	1	507	1	0	0	0	0	0	0	0	1	266	958	34	2		2	ADAMTS20	12	43825222	Silent	SNP	G	TCGA-CJ-4881-01A-01D-1373-10		43825222	90026673	24	27411											
KRT6C	286887	hgsc.bcm.edu	37	12	52863663	52863663	+	Silent	SNP	C	C	T	rs11540291		TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:52863663C>T	ENST00000252250.6	-	7	1262	c.1215G>A	c.(1213-1215)ctG>ctA	p.L405L		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	405	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGGCAGCCTGCAGGCTGGCAC	0.577																																																0													55	52	53					12																	52863663		2203	4300	6503	SO:0001819	synonymous_variant	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1215G>A	12.37:g.52863663C>T			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																				0.577	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		T	52863663	C	T	52863663	2	4	507	1	0	0	0	0	0	0	0	1	8484	697	25	2		2	KRT6C	12	52863663	Silent	SNP	C	TCGA-CJ-4881-01A-01D-1373-10	9038441	52863663	80988232	25	27412											
ERBB3	2065	hgsc.bcm.edu;ucsc.edu	37	12	56478808	56478808	+	Silent	SNP	C	C	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:56478808C>T	ENST00000267101.3	+	3	704	c.264C>T	c.(262-264)ctC>ctT	p.L88L	ERBB3_ENST00000411731.2_Silent_p.L88L|ERBB3_ENST00000415288.2_Silent_p.L29L|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	88					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)			GCTATGTCCTCGTGGCCATGA	0.488																																																0													164	136	146					12																	56478808		2203	4300	6503	SO:0001819	synonymous_variant	2065			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.264C>T	12.37:g.56478808C>T			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	CCDS31833.1																																																																																				0.488	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			T	56478808	C	T	56478808	2	4	507	1	0	0	0	0	0	0	0	1	5210	871	31	1		1	ERBB3	12	56478808	Silent	SNP	C	TCGA-CJ-4881-01A-01D-1373-10	3615145	56478808	77373087	26	27413											
PTPRB	5787	hgsc.bcm.edu	37	12	70960250	70960250	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:70960250A>G	ENST00000261266.5	-	13	3244	c.3215T>C	c.(3214-3216)cTc>cCc	p.L1072P	PTPRB_ENST00000550358.1_Missense_Mutation_p.L1202P|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000451516.2_Missense_Mutation_p.L982P|PTPRB_ENST00000550857.1_Missense_Mutation_p.L982P|PTPRB_ENST00000551525.1_Missense_Mutation_p.L1289P|PTPRB_ENST00000334414.6_Missense_Mutation_p.L1290P	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1072	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTGCTAAAGAGGCCTCCACT	0.448																																																0													168	159	162					12																	70960250		2023	4176	6199	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3215T>C	12.37:g.70960250A>G	ENSP00000261266:p.Leu1072Pro		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847590	0.71603	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.137984	0.50627	D	0.000107	T	0.68769	0.3037	L	0.59436	1.845	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.93;0.998;0.999;0.999;0.997	D;P;P;D;D;D	0.77557	0.983;0.783;0.879;0.983;0.99;0.947	T	0.70622	-0.4821	10	0.54805	T	0.06	.	15.3774	0.74621	1.0:0.0:0.0:0.0	.	982;1169;1289;1290;1072;1202	P23467-2;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	P	1290;982;1202;982;1072;1289;1169	ENSP00000334928:L1290P;ENSP00000393028:L982P;ENSP00000448058:L1202P;ENSP00000447302:L982P;ENSP00000261266:L1072P;ENSP00000448349:L1289P;ENSP00000446982:L1169P	ENSP00000261266:L1072P	L	-	2	0	PTPRB	69246517	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	8.211000	0.89754	2.035000	0.60131	0.533000	0.62120	CTC		0.448	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			G	70960250	A	G	70960250	3	3	507	1	0	0	0	0	1	0	0	0	12802	304	11	3	2858	3	PTPRB	12	70960250	Missense_Mutation	SNP	A	TCGA-CJ-4881-01A-01D-1373-10	14481442	70960250	62891645	27	27414											
DTX1	1840	hgsc.bcm.edu	37	12	113531890	113531890	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:113531890A>C	ENST00000257600.3	+	5	1716	c.1213A>C	c.(1213-1215)Aac>Cac	p.N405H	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	405					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGGTGAAAAACCCACCTGA	0.612																																																0													26	23	24					12																	113531890		2191	4281	6472	SO:0001583	missense	1840			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1213A>C	12.37:g.113531890A>C	ENSP00000257600:p.Asn405His		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	A	2.264	-0.368596	0.05069	.	.	ENSG00000135144	ENST00000257600	T	0.67523	-0.27	3.74	3.74	0.42951	.	0.692417	0.14337	N	0.325956	T	0.38453	0.1041	N	0.02916	-0.46	0.27223	N	0.959612	B	0.02656	0.0	B	0.08055	0.003	T	0.19582	-1.0301	10	0.26408	T	0.33	-7.2777	7.8439	0.29414	0.8141:0.0:0.0:0.1859	.	405	Q86Y01	DTX1_HUMAN	H	405	ENSP00000257600:N405H	ENSP00000257600:N405H	N	+	1	0	DTX1	112016273	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	2.315000	0.43752	1.625000	0.50366	0.379000	0.24179	AAC		0.612	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			C	113531890	A	C	113531890	3	2	507	1	0	0	0	0	1	0	0	0	4795	14	1	5	1231	5	DTX1	12	113531890	Missense_Mutation	SNP	A	TCGA-CJ-4881-01A-01D-1373-10	42571640	113531890	20320005	28	27415											
CAMKK2	10645	hgsc.bcm.edu;ucsc.edu	37	12	121698132	121698132	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:121698132A>T	ENST00000324774.5	-	7	1614	c.786T>A	c.(784-786)caT>caA	p.H262Q	CAMKK2_ENST00000446440.2_Missense_Mutation_p.H262Q|CAMKK2_ENST00000538733.1_Missense_Mutation_p.H262Q|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000392474.2_Missense_Mutation_p.H262Q|CAMKK2_ENST00000337174.3_Missense_Mutation_p.H262Q|CAMKK2_ENST00000404169.3_Missense_Mutation_p.H262Q|CAMKK2_ENST00000347034.2_Missense_Mutation_p.H262Q|CAMKK2_ENST00000412367.2_Missense_Mutation_p.H262Q|CAMKK2_ENST00000402834.4_Missense_Mutation_p.H262Q|CAMKK2_ENST00000392473.2_Missense_Mutation_p.H262Q|CAMKK2_ENST00000545538.1_Missense_Mutation_p.H49Q	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGTACAGATGGTCCTCAT	0.577																																																0													109	82	91					12																	121698132		2203	4300	6503	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.786T>A	12.37:g.121698132A>T	ENSP00000312741:p.His262Gln		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071691	0.36566	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.69	2.33	0.28932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.113474	0.64402	D	0.000014	T	0.53110	0.1776	N	0.11313	0.125	0.48236	D	0.999615	P;P;P;B;P;D;D;P	0.55385	0.752;0.94;0.94;0.356;0.779;0.964;0.971;0.94	P;P;P;B;P;P;P;P	0.58331	0.583;0.681;0.681;0.097;0.583;0.828;0.837;0.681	T	0.54549	-0.8277	10	0.66056	D	0.02	-1.5828	7.4091	0.27007	0.7163:0.0:0.2837:0.0	.	262;262;262;49;262;262;262;262	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	Q	262;262;262;262;262;49;262;262;245;262;262	ENSP00000376266:H262Q;ENSP00000321230:H262Q;ENSP00000445944:H262Q;ENSP00000336634:H262Q;ENSP00000312741:H262Q;ENSP00000441352:H49Q;ENSP00000388368:H262Q;ENSP00000384600:H262Q;ENSP00000388273:H262Q;ENSP00000376265:H262Q	ENSP00000312741:H262Q	H	-	3	2	CAMKK2	120182515	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	0.769000	0.26604	0.275000	0.22094	0.459000	0.35465	CAT		0.577	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		T	121698132	A	T	121698132	3	4	507	1	0	0	0	0	1	0	0	0	2609	330	12	5	1034	5	CAMKK2	12	121698132	Missense_Mutation	SNP	A	TCGA-CJ-4881-01A-01D-1373-10	8166242	121698132	12153763	29	27416											
SCARB1	949	hgsc.bcm.edu;ucsc.edu	37	12	125279747	125279747	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:125279747C>A	ENST00000415380.2	-	9	1321	c.1196G>T	c.(1195-1197)gGc>gTc	p.G399V	SCARB1_ENST00000546215.1_Missense_Mutation_p.G399V|SCARB1_ENST00000261693.6_Missense_Mutation_p.G399V|SCARB1_ENST00000376788.1_Missense_Mutation_p.G299V|SCARB1_ENST00000339570.5_Missense_Mutation_p.G399V|SCARB1_ENST00000541205.1_Missense_Mutation_p.G358V|SCARB1_ENST00000544327.1_Missense_Mutation_p.G345V|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000540495.1_Missense_Mutation_p.G362V			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	399					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TCACCCAATGCCTGCGACAGA	0.562																																																0													158	141	146					12																	125279747		2203	4300	6503	SO:0001583	missense	949			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1196G>T	12.37:g.125279747C>A	ENSP00000414979:p.Gly399Val		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		.	.	.	.	.	.	.	.	.	.	C	15.55	2.867854	0.51588	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.28	4.28	0.50868	.	0.051735	0.85682	D	0.000000	D	0.85168	0.5635	M	0.84948	2.725	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.998;1.0	D;D;D;D;D;D	0.76071	0.981;0.981;0.987;0.987;0.967;0.987	D	0.87607	0.2501	10	0.56958	D	0.05	-38.7076	16.5898	0.84762	0.0:1.0:0.0:0.0	.	358;399;399;399;399;399	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	V	399;399;399;299;399;358;345;362	ENSP00000343795:G399V;ENSP00000414979:G399V;ENSP00000261693:G399V;ENSP00000365984:G299V;ENSP00000442862:G399V;ENSP00000446107:G358V;ENSP00000444851:G345V;ENSP00000443286:G362V	ENSP00000261693:G399V	G	-	2	0	SCARB1	123845700	1.000000	0.71417	0.995000	0.50966	0.327000	0.28475	5.385000	0.66231	2.240000	0.73641	0.485000	0.47835	GGC		0.562	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		A	125279747	C	A	125279747	3	1	507	1	0	0	0	0	1	0	0	0	13887	739	26	4	473	4	SCARB1	12	125279747	Missense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10	3581615	125279747	8572148	30	27417											
CARKD	55739	hgsc.bcm.edu	37	13	111287086	111287086	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr13:111287086C>A	ENST00000309957.2	+	7	628	c.614C>A	c.(613-615)cCc>cAc	p.P205H	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000397191.4_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.P95H|CARKD_ENST00000458711.2_Missense_Mutation_p.P74H	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						GTGCTCACTCCCAACCACGTG	0.602																																																0													72	60	64					13																	111287086		2203	4300	6503	SO:0001583	missense	55739			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.614C>A	13.37:g.111287086C>A	ENSP00000311984:p.Pro205His			Missense_Mutation	SNP	ENST00000309957.2	37	CCDS9513.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759491	0.69763	.	.	ENSG00000213995	ENST00000458711;ENST00000424185;ENST00000439607;ENST00000309957	T;T;T	0.75154	-0.91;-0.91;-0.91	5.12	5.12	0.69794	Uncharacterised domain, carbohydrate kinase-related (3);	0.000000	0.85682	D	0.000000	D	0.91334	0.7267	H	0.97440	4.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.94445	0.7662	10	0.87932	D	0	-34.7158	17.3438	0.87305	0.0:1.0:0.0:0.0	.	74;95;187;205;205	B4DQR1;Q8IW45-4;B4DKX7;Q8IW45-2;Q8IW45	.;.;.;.;CARKD_HUMAN	H	74;95;187;205	ENSP00000412789:P74H;ENSP00000413191:P95H;ENSP00000311984:P205H	ENSP00000311984:P205H	P	+	2	0	CARKD	110085087	1.000000	0.71417	0.994000	0.49952	0.261000	0.26267	7.093000	0.76937	2.360000	0.80028	0.655000	0.94253	CCC		0.602	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210		A	111287086	C	A	111287086	3	1	507	1	0	0	0	0	1	0	0	0	2656	623	22	4	640	4	CARKD	13	111287086	Missense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10		111287086	3882792	31	27418											
AP1G2	8906	hgsc.bcm.edu	37	14	24035342	24035342	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr14:24035342G>A	ENST00000308724.5	-	4	1254	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R167W	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	167					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.R167W(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGGACCTTCCGGATCATGTGC	0.572																																																1	Substitution - Missense(1)	ovary(1)											48	49	49					14																	24035342		2203	4300	6503	SO:0001583	missense	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.499C>T	14.37:g.24035342G>A	ENSP00000312442:p.Arg167Trp		D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693599	0.68386	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189	T;T;T	0.28666	1.6;1.6;1.6	5.2	5.2	0.72013	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	T	0.71467	-0.4584	10	0.87932	D	0	-22.6974	11.1833	0.48642	0.0:0.0:0.8168:0.1832	.	167;167	G3V532;O75843	.;AP1G2_HUMAN	W	167	ENSP00000312442:R167W;ENSP00000380309:R167W;ENSP00000452153:R167W	ENSP00000312442:R167W	R	-	1	2	AP1G2	23105182	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.175000	0.50855	2.698000	0.92095	0.561000	0.74099	CGG		0.572	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		A	24035342	G	A	24035342	3	1	507	1	0	0	0	0	1	0	0	0	733	1115	39	1	1930	1	AP1G2	14	24035342	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10		24035342	83314198	32	27419											
SENP8	123228	hgsc.bcm.edu;ucsc.edu	37	15	72432093	72432093	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr15:72432093G>C	ENST00000542035.2	+	2	462	c.129G>C	c.(127-129)caG>caC	p.Q43H	SENP8_ENST00000340912.4_Missense_Mutation_p.Q43H|RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.Q43H|SENP8_ENST00000544171.1_Missense_Mutation_p.Q43H	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	43	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CCAACAGTCAGTTTCATGACT	0.473																																																0													164	146	152					15																	72432093		2199	4297	6496	SO:0001583	missense	123228			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.129G>C	15.37:g.72432093G>C	ENSP00000446057:p.Gln43His		Q96QA4	Missense_Mutation	SNP	ENST00000542035.2	37	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542921	0.27563	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.62	0.324	0.15898	.	0.267510	0.37715	N	0.001964	T	0.18002	0.0432	L	0.36672	1.1	0.43959	D	0.996637	B	0.22604	0.072	B	0.15052	0.012	T	0.10870	-1.0611	10	0.14252	T	0.57	-6.941	7.8625	0.29517	0.2135:0.1181:0.6685:0.0	.	43	Q96LD8	SENP8_HUMAN	H	43	ENSP00000446057:Q43H;ENSP00000441753:Q43H;ENSP00000340505:Q43H;ENSP00000439415:Q43H	ENSP00000340505:Q43H	Q	+	3	2	SENP8	70219147	1.000000	0.71417	0.843000	0.33291	0.902000	0.53008	1.101000	0.31037	0.110000	0.17919	0.655000	0.94253	CAG		0.473	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204		C	72432093	G	C	72432093	3	2	507	1	0	0	0	0	1	0	0	0	14058	1020	36	4	131	4	SENP8	15	72432093	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10		72432093	30099299	33	27420											
KIAA0430	9665	hgsc.bcm.edu;ucsc.edu	37	16	15690639	15690639	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr16:15690639C>A	ENST00000396368.3	-	27	5346	c.5140G>T	c.(5140-5142)Gac>Tac	p.D1714Y	KIAA0430_ENST00000540441.2_Missense_Mutation_p.D1549Y|KIAA0430_ENST00000548025.1_Missense_Mutation_p.D1711Y|KIAA0430_ENST00000602337.1_Missense_Mutation_p.D1711Y|KIAA0430_ENST00000344181.3_Missense_Mutation_p.D1402Y|KIAA0430_ENST00000551742.1_Missense_Mutation_p.D1714Y	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1714					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCACGGGGTCCTTGCTGAGC	0.537																																																0													104	102	103					16																	15690639		1955	4142	6097	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.5140G>T	16.37:g.15690639C>A	ENSP00000379654:p.Asp1714Tyr		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877216	0.51801	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	5.45	0.79879	.	0.292576	0.34580	N	0.003857	T	0.50837	0.1639	L	0.27053	0.805	0.29597	N	0.848016	D;D;D;P	0.54047	0.964;0.964;0.964;0.94	P;P;P;P	0.53006	0.715;0.643;0.643;0.522	T	0.53322	-0.8455	9	0.72032	D	0.01	.	19.2928	0.94108	0.0:1.0:0.0:0.0	.	1713;1711;1710;1713	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	Y	1714;1549;1654;1402;1711;1714;1580	.	ENSP00000315718:D1654Y	D	-	1	0	KIAA0430	15598140	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	4.715000	0.61909	2.538000	0.85594	0.655000	0.94253	GAC		0.537	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		A	15690639	C	A	15690639	3	1	507	1	0	0	0	0	1	0	0	0	8179	855	30	4	92	4	KIAA0430	16	15690639	Missense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10		15690639	74664114	34	27421											
RBBP6	5930	hgsc.bcm.edu;ucsc.edu	37	16	24581248	24581248	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr16:24581248G>C	ENST00000319715.4	+	17	3669	c.3237G>C	c.(3235-3237)caG>caC	p.Q1079H	RBBP6_ENST00000348022.2_Missense_Mutation_p.Q1045H|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1079	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTTCCTCTCAGAAGGATGAAA	0.408																																																0													51	48	49					16																	24581248		2195	4300	6495	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3237G>C	16.37:g.24581248G>C	ENSP00000317872:p.Gln1079His		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889228	0.52014	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.18960	2.21;2.18	5.49	3.47	0.39725	.	0.000000	0.56097	D	0.000040	T	0.28599	0.0708	N	0.24115	0.695	0.35278	D	0.781095	D;D	0.69078	0.997;0.995	D;D	0.81914	0.995;0.99	T	0.31475	-0.9942	10	0.56958	D	0.05	-12.1131	9.4235	0.38565	0.2513:0.0:0.7487:0.0	.	1045;1079	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	H	1079;1045	ENSP00000317872:Q1079H;ENSP00000316291:Q1045H	ENSP00000317872:Q1079H	Q	+	3	2	RBBP6	24488749	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.703000	0.37846	0.587000	0.29643	0.655000	0.94253	CAG		0.408	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		C	24581248	G	C	24581248	3	2	507	1	0	0	0	0	1	0	0	0	13109	933	33	4	3357	4	RBBP6	16	24581248	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	8890609	24581248	65773505	35	27422											
BCAR1	9564	hgsc.bcm.edu	37	16	75276448	75276448	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr16:75276448C>A	ENST00000162330.5	-	2	679	c.553G>T	c.(553-555)Gcc>Tcc	p.A185S	BCAR1_ENST00000418647.3_Missense_Mutation_p.A231S|BCAR1_ENST00000546196.1_Missense_Mutation_p.A156S|BCAR1_ENST00000542031.2_Missense_Mutation_p.A183S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000420641.3_Missense_Mutation_p.A203S|BCAR1_ENST00000538440.2_Missense_Mutation_p.A185S|BCAR1_ENST00000393422.2_Missense_Mutation_p.A203S|BCAR1_ENST00000393420.6_Missense_Mutation_p.A185S	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	185	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCATCCCGGCAGAAGGTGGC	0.657																																																0													44	50	48					16																	75276448		2197	4299	6496	SO:0001583	missense	9564			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.553G>T	16.37:g.75276448C>A	ENSP00000162330:p.Ala185Ser		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629402	0.67015	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.66	4.66	0.58398	.	0.773311	0.11963	N	0.512510	T	0.54013	0.1832	N	0.14661	0.345	0.39638	D	0.970284	B;P;D;P;B;D;D	0.67145	0.289;0.615;0.996;0.669;0.063;0.996;0.985	B;B;D;B;B;D;P	0.76071	0.224;0.219;0.987;0.348;0.056;0.987;0.535	T	0.37957	-0.9683	10	0.10902	T	0.67	-16.0516	14.665	0.68901	0.0:1.0:0.0:0.0	.	203;231;183;185;203;185;185	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	S	185;203;203;185;231;185;183;156	ENSP00000162330:A185S;ENSP00000377074:A203S;ENSP00000392708:A203S;ENSP00000443841:A185S;ENSP00000391669:A231S;ENSP00000377072:A185S;ENSP00000440415:A183S;ENSP00000442161:A156S	ENSP00000162330:A185S	A	-	1	0	BCAR1	73833949	0.090000	0.21635	0.997000	0.53966	0.987000	0.75469	1.002000	0.29796	2.324000	0.78689	0.655000	0.94253	GCC		0.657	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		A	75276448	C	A	75276448	3	1	507	1	0	0	0	0	1	0	0	0	1348	710	25	4	2144	4	BCAR1	16	75276448	Missense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10	50695200	75276448	15078305	36	27423											
CDK12	51755	hgsc.bcm.edu	37	17	37618612	37618612	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr17:37618612C>A	ENST00000447079.4	+	1	321	c.288C>A	c.(286-288)aaC>aaA	p.N96K	CDK12_ENST00000430627.2_Missense_Mutation_p.N96K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	96					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAAGGGAGAACGACGAACGTC	0.512			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													75	66	69					17																	37618612		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.288C>A	17.37:g.37618612C>A	ENSP00000398880:p.Asn96Lys		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077353	0.55753	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.39229	1.09;1.09	4.56	1.15	0.20763	.	0.138608	0.33005	N	0.005395	T	0.46464	0.1394	L	0.36672	1.1	0.40862	D	0.983847	D;D;D	0.76494	0.999;0.997;0.998	D;P;D	0.66847	0.947;0.819;0.912	T	0.30031	-0.9992	10	0.42905	T	0.14	-5.2659	8.3283	0.32171	0.0:0.4782:0.0:0.5218	.	96;96;96	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	K	96	ENSP00000407720:N96K;ENSP00000398880:N96K	ENSP00000407720:N96K	N	+	3	2	CDK12	34872138	0.071000	0.21146	0.996000	0.52242	0.868000	0.49771	-0.735000	0.04888	0.012000	0.14892	-0.367000	0.07326	AAC		0.512	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		A	37618612	C	A	37618612	3	1	507	1	0	0	0	0	1	0	0	0	3130	535	19	4	290	4	CDK12	17	37618612	Missense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10		37618612	43576598	37	27424											
CDK5RAP3	80279	hgsc.bcm.edu;ucsc.edu	37	17	46051372	46051372	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr17:46051372G>T	ENST00000338399.4	+	4	366	c.260G>T	c.(259-261)gGc>gTc	p.G87V	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.G112V	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	87					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AATATTTTTGGCCGATACTCT	0.507																																																0													95	94	94					17																	46051372		1905	4110	6015	SO:0001583	missense	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.260G>T	17.37:g.46051372G>T	ENSP00000344683:p.Gly87Val		B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062092	0.93846	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.75938	-0.98;-0.98	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.89757	0.6807	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91889	0.5522	10	0.87932	D	0	-17.0448	18.2085	0.89863	0.0:0.0:1.0:0.0	.	87	Q96JB5	CK5P3_HUMAN	V	112;87	ENSP00000438886:G112V;ENSP00000344683:G87V	ENSP00000344683:G87V	G	+	2	0	CDK5RAP3	43406371	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.231000	0.95317	2.611000	0.88343	0.655000	0.94253	GGC		0.507	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		T	46051372	G	T	46051372	3	4	507	1	0	0	0	0	1	0	0	0	3149	1203	42	4	274	4	CDK5RAP3	17	46051372	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	8432760	46051372	35143838	38	27425											
BPTF	2186	hgsc.bcm.edu;ucsc.edu	37	17	65942187	65942187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr17:65942187C>T	ENST00000321892.4	+	23	7802	c.7741C>T	c.(7741-7743)Cag>Tag	p.Q2581*	BPTF_ENST00000424123.3_Intron|BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q2455*|BPTF_ENST00000335221.5_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2581					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGTTGTGGCTCAGATACAGGC	0.498																																																0													114	99	104					17																	65942187		2203	4300	6503	SO:0001587	stop_gained	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7741C>T	17.37:g.65942187C>T	ENSP00000315454:p.Gln2581*		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	47	13.491950	0.99745	.	.	ENSG00000171634	ENST00000306378;ENST00000321892	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-3.063	20.2284	0.98346	0.0:1.0:0.0:0.0	.	.	.	.	X	2455;2581	.	ENSP00000307208:Q2455X	Q	+	1	0	BPTF	63372649	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	7.288000	0.78691	2.785000	0.95823	0.650000	0.86243	CAG		0.498	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		T	65942187	C	T	65942187	4	4	507	1	0	0	0	0	0	1	0	0	1497	827	29	2	7831	2	BPTF	17	65942187	Nonsense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10	19890815	65942187	15253023	39	27426											
KIAA1632	57724	hgsc.bcm.edu;ucsc.edu	37	18	43523194	43523194	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr18:43523194C>T	ENST00000282041.5	-	9	1910	c.1876G>A	c.(1876-1878)Gtg>Atg	p.V626M		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	626					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTAACCCCACAGCCAGAAGT	0.398																																																0													126	125	125					18																	43523194		1861	4093	5954	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1876G>A	18.37:g.43523194C>T	ENSP00000282041:p.Val626Met		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179163	0.57800	.	.	ENSG00000152223	ENST00000282041	T	0.10288	2.89	5.53	4.66	0.58398	.	0.474895	0.23746	N	0.044970	T	0.12135	0.0295	L	0.50333	1.59	0.37032	D	0.896729	B;B	0.22146	0.065;0.065	B;B	0.26094	0.066;0.066	T	0.06481	-1.0824	10	0.46703	T	0.11	-7.7008	9.9665	0.41727	0.0:0.7895:0.138:0.0725	.	626;626	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	M	626	ENSP00000282041:V626M	ENSP00000282041:V626M	V	-	1	0	EPG5	41777192	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.423000	0.44705	1.339000	0.45563	-0.391000	0.06502	GTG		0.398	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		T	43523194	C	T	43523194	3	4	507	1	0	0	0	0	1	0	0	0	8251	478	17	2	6007	2	KIAA1632	18	43523194	Missense_Mutation	SNP	C	TCGA-CJ-4881-01A-01D-1373-10		43523194	34554054	40	27427											
OR7D2	162998	hgsc.bcm.edu;ucsc.edu	37	19	9296955	9296955	+	Silent	SNP	A	A	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr19:9296955A>G	ENST00000344248.2	+	1	677	c.498A>G	c.(496-498)ctA>ctG	p.L166L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	166					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TGATGCATCTAATCTTCTGTA	0.453																																																0													158	153	154					19																	9296955		2203	4300	6503	SO:0001819	synonymous_variant	162998			AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.498A>G	19.37:g.9296955A>G			Q6IFJ7|Q8N133	Silent	SNP	ENST00000344248.2	37	CCDS32900.1																																																																																				0.453	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			G	9296955	A	G	9296955	2	3	507	1	0	0	0	0	0	0	0	1	11221	349	13	3		3	OR7D2	19	9296955	Silent	SNP	A	TCGA-CJ-4881-01A-01D-1373-10		9296955	49832028	41	27428											
PKN1	5585	hgsc.bcm.edu;ucsc.edu	37	19	14580588	14580588	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr19:14580588G>A	ENST00000242783.6	+	17	2343	c.2178G>A	c.(2176-2178)ctG>ctA	p.L726L	PKN1_ENST00000342216.4_Silent_p.L732L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCGTGGTGCTGGGCCTACAGT	0.597																																					NSCLC(185;2539 2965 10733 52867)											0													120	123	122					19																	14580588		2083	4213	6296	SO:0001819	synonymous_variant	5585			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2178G>A	19.37:g.14580588G>A			A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	CCDS42513.1																																																																																				0.597	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		A	14580588	G	A	14580588	2	1	507	1	0	0	0	0	0	0	0	1	11981	1335	47	2		2	PKN1	19	14580588	Silent	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	5283633	14580588	44548395	42	27429											
AKAP8L	26993	hgsc.bcm.edu;ucsc.edu	37	19	15511799	15511799	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr19:15511799G>A	ENST00000397410.5	-	6	1002	c.872C>T	c.(871-873)gCc>gTc	p.A291V	AKAP8L_ENST00000595465.2_Missense_Mutation_p.A230V|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	291						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CGTGCGGGTGGCTTTGCTATC	0.612																																																0													77	83	81					19																	15511799		2111	4241	6352	SO:0001583	missense	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.872C>T	19.37:g.15511799G>A	ENSP00000380557:p.Ala291Val		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	4.979	0.181879	0.09495	.	.	ENSG00000011243	ENST00000397410	T	0.44881	0.91	4.75	3.7	0.42460	.	0.514227	0.21664	N	0.070966	T	0.45418	0.1341	L	0.34521	1.04	0.32007	N	0.602611	B;B;D;B	0.71674	0.084;0.221;0.998;0.084	B;B;D;B	0.80764	0.063;0.133;0.994;0.063	T	0.38779	-0.9645	10	0.02654	T	1	-9.4664	11.612	0.51066	0.0:0.0:0.8217:0.1783	.	230;61;291;291	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	V	291	ENSP00000380557:A291V	ENSP00000380557:A291V	A	-	2	0	AKAP8L	15372799	1.000000	0.71417	0.596000	0.28811	0.232000	0.25224	5.613000	0.67688	0.993000	0.38866	0.491000	0.48974	GCC		0.612	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		A	15511799	G	A	15511799	3	1	507	1	0	0	0	0	1	0	0	0	458	1203	42	2	1104	2	AKAP8L	19	15511799	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	931211	15511799	43617184	43	27430											
FAM129C	199786	hgsc.bcm.edu;ucsc.edu	37	19	17664214	17664214	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr19:17664214A>T	ENST00000335393.4	+	16	2074	c.1936A>T	c.(1936-1938)Ata>Tta	p.I646L	COLGALT1_ENST00000252599.4_5'Flank|FAM129C_ENST00000601861.1_Missense_Mutation_p.I615L|FAM129C_ENST00000449408.2_Missense_Mutation_p.I372L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	646										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCTAACTGGATATTGGCAGC	0.502																																																0													120	118	118					19																	17664214		2203	4300	6503	SO:0001583	missense	199786			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1936A>T	19.37:g.17664214A>T	ENSP00000335040:p.Ile646Leu		B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	A	0.243	-1.012087	0.02095	.	.	ENSG00000167483	ENST00000335393;ENST00000449408	T;T	0.25912	2.13;1.77	2.18	-4.07	0.03975	.	.	.	.	.	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.23440	-1.0188	9	0.52906	T	0.07	.	5.9203	0.19078	0.27:0.1905:0.5395:0.0	.	646	Q86XR2	NIBL2_HUMAN	L	646;372	ENSP00000335040:I646L;ENSP00000394929:I372L	ENSP00000335040:I646L	I	+	1	0	FAM129C	17525214	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.509000	0.06336	-1.440000	0.01960	-0.761000	0.03458	ATA		0.502	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		T	17664214	A	T	17664214	3	4	507	1	0	0	0	0	1	0	0	0	5440	333	12	5	2115	5	FAM129C	19	17664214	Missense_Mutation	SNP	A	TCGA-CJ-4881-01A-01D-1373-10	2152415	17664214	41464769	44	27431											
OSCAR	126014	hgsc.bcm.edu	37	19	54600307	54600307	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr19:54600307G>A	ENST00000284648.6	-	4	412	c.215C>T	c.(214-216)cCc>cTc	p.P72L	OSCAR_ENST00000391761.1_Missense_Mutation_p.P61L|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000356532.3_Missense_Mutation_p.P76L|OSCAR_ENST00000358375.4_Missense_Mutation_p.P72L|OSCAR_ENST00000359649.4_Missense_Mutation_p.P76L|OSCAR_ENST00000351806.4_Missense_Mutation_p.P61L			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	72	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GAAGAGAAGGGGAGCGATCTC	0.587																																																0													66	67	67					19																	54600307		2203	4300	6503	SO:0001583	missense	126014			AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.215C>T	19.37:g.54600307G>A	ENSP00000365808:p.Pro72Leu		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	ENST00000284648.6	37		.	.	.	.	.	.	.	.	.	.	G	9.670	1.146510	0.21288	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6	3.73	3.73	0.42828	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.196119	0.24871	U	0.034933	T	0.26159	0.0638	L	0.56340	1.77	0.42570	D	0.993172	D;P;P;D;B;B	0.64830	0.994;0.591;0.744;0.992;0.313;0.226	P;B;P;P;B;B	0.59115	0.852;0.406;0.721;0.77;0.086;0.101	T	0.02059	-1.1221	10	0.72032	D	0.01	.	11.4516	0.50156	0.0:0.0:1.0:0.0	.	72;61;61;76;72;76	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	L	61;76;76;72;61;72	ENSP00000375641:P61L;ENSP00000348927:P76L;ENSP00000352671:P76L;ENSP00000351145:P72L;ENSP00000304523:P61L;ENSP00000365808:P72L	ENSP00000365808:P72L	P	-	2	0	OSCAR	59292119	0.011000	0.17503	0.003000	0.11579	0.057000	0.15508	1.838000	0.39211	1.822000	0.53115	0.585000	0.79938	CCC		0.587	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		A	54600307	G	A	54600307	3	1	507	1	0	0	0	0	1	0	0	0	11287	1232	43	2	782	2	OSCAR	19	54600307	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	36936093	54600307	4528676	45	27432											
COL6A2	1292	hgsc.bcm.edu	37	21	47532722	47532722	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr21:47532722A>T	ENST00000300527.4	+	4	823	c.719A>T	c.(718-720)cAc>cTc	p.H240L	COL6A2_ENST00000357838.4_Missense_Mutation_p.H240L|COL6A2_ENST00000397763.1_Missense_Mutation_p.H240L|COL6A2_ENST00000409416.1_Missense_Mutation_p.H240L|COL6A2_ENST00000310645.5_Missense_Mutation_p.H240L|COL6A2_ENST00000460886.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	240	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGCAGAAACACGAAGCCTAC	0.647																																																0													126	98	108					21																	47532722		2203	4300	6503	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.719A>T	21.37:g.47532722A>T	ENSP00000300527:p.His240Leu		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.322748	0.60634	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.89617	-2.46;-2.48;-2.54;-2.54;-2.48	4.0	4.0	0.46444	.	0.297641	0.32769	N	0.005679	D	0.91078	0.7192	M	0.62723	1.935	0.80722	D	1	D;D;B	0.59357	0.985;0.971;0.232	P;P;B	0.59012	0.637;0.85;0.159	D	0.89028	0.3440	10	0.23891	T	0.37	-13.253	13.2156	0.59859	1.0:0.0:0.0:0.0	.	240;240;240	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	L	240	ENSP00000300527:H240L;ENSP00000350497:H240L;ENSP00000312529:H240L;ENSP00000387115:H240L;ENSP00000380870:H240L	ENSP00000300527:H240L	H	+	2	0	COL6A2	46357150	0.988000	0.35896	0.989000	0.46669	0.963000	0.63663	2.936000	0.48971	1.592000	0.50018	0.379000	0.24179	CAC		0.647	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			T	47532722	A	T	47532722	3	4	507	1	0	0	0	0	1	0	0	0	3702	159	6	5	729	5	COL6A2	21	47532722	Missense_Mutation	SNP	A	TCGA-CJ-4881-01A-01D-1373-10		47532722	597173	46	27433											
ZMAT5	55954	hgsc.bcm.edu	37	22	30134342	30134342	+	Silent	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr22:30134342C>A	ENST00000344318.3	-	5	476	c.360G>T	c.(358-360)cgG>cgT	p.R120R	ZMAT5_ENST00000397781.3_Silent_p.R120R	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	120					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTGAGCTCAGCCGCTTGGCTC	0.662																																																0													72	63	66					22																	30134342		2203	4300	6503	SO:0001819	synonymous_variant	55954				CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"Zinc fingers, matrin-type"	28046	protein-coding gene	gene with protein product	"U11/U12 snRNP 20K"					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.360G>T	22.37:g.30134342C>A			A8K9F6	Silent	SNP	ENST00000344318.3	37	CCDS13868.1																																																																																				0.662	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1	NM_019103		A	30134342	C	A	30134342	2	1	507	1	0	0	0	0	0	0	0	1	17700	726	26	4		4	ZMAT5	22	30134342	Silent	SNP	C	TCGA-CJ-4881-01A-01D-1373-10		30134342	21170224	47	27434											
ELFN2	114794	hgsc.bcm.edu	37	22	37769914	37769914	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr22:37769914G>A	ENST00000402918.2	-	3	2446	c.1661C>T	c.(1660-1662)gCt>gTt	p.A554V	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	554					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CAGCTTGAGAGCATCGATGCA	0.627																																																0													77	72	74					22																	37769914		2203	4300	6503	SO:0001583	missense	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1661C>T	22.37:g.37769914G>A	ENSP00000385277:p.Ala554Val		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976239	0.74360	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.34072	1.38;1.38	4.79	4.79	0.61399	.	0.055760	0.64402	D	0.000001	T	0.61098	0.2320	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66582	-0.5887	10	0.87932	D	0	-29.0249	17.8355	0.88694	0.0:0.0:1.0:0.0	.	554	Q5R3F8	PPR29_HUMAN	V	554	ENSP00000300147:A554V;ENSP00000385277:A554V	ENSP00000300147:A554V	A	-	2	0	ELFN2	36099860	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	9.753000	0.98904	2.195000	0.70347	0.511000	0.50034	GCT		0.627	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		A	37769914	G	A	37769914	3	1	507	1	0	0	0	0	1	0	0	0	5060	971	34	2	805	2	ELFN2	22	37769914	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	7635572	37769914	13534652	48	27435											
USP9X	8239	hgsc.bcm.edu;ucsc.edu	37	X	41077774	41077774	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chrX:41077774T>C	ENST00000324545.8	+	37	6992	c.6359T>C	c.(6358-6360)aTa>aCa	p.I2120T	USP9X_ENST00000378308.2_Missense_Mutation_p.I2120T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2120					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.I2113T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCAAAACTTATAGTCTTTATT	0.433																																					Ovarian(172;1807 2695 35459 49286)											1	Substitution - Missense(1)	lung(1)											230	197	208					X																	41077774		2203	4300	6503	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6359T>C	X.37:g.41077774T>C	ENSP00000316357:p.Ile2120Thr		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361147	0.82353	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03607	3.87;3.87	5.8	5.8	0.92144	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.08358	0.0208	L	0.59436	1.845	0.80722	D	1	P;P	0.44627	0.804;0.839	P;P	0.45232	0.474;0.448	T	0.03433	-1.1037	10	0.56958	D	0.05	.	15.1123	0.72368	0.0:0.0:0.0:1.0	.	2120;2120	Q93008-1;Q93008	.;USP9X_HUMAN	T	2120	ENSP00000367558:I2120T;ENSP00000316357:I2120T	ENSP00000316357:I2120T	I	+	2	0	USP9X	40962718	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	1.952000	0.56665	0.417000	0.27973	ATA		0.433	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		C	41077774	T	C	41077774	3	2	507	1	0	0	0	0	1	0	0	0	17095	1406	49	3	6501	3	USP9X	23	41077774	Missense_Mutation	SNP	T	TCGA-CJ-4881-01A-01D-1373-10		41077774	114192786	49	27436											
AKAP4	8852	hgsc.bcm.edu;ucsc.edu	37	X	49963344	49963344	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chrX:49963344G>A	ENST00000376056.2	-	2	210	c.60C>T	c.(58-60)taC>taT	p.Y20Y	AKAP4_ENST00000376058.2_Silent_p.Y20Y|AKAP4_ENST00000358526.2_Silent_p.Y29Y|AKAP4_ENST00000376064.3_Silent_p.Y20Y|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTCTGGGTTGTAGAGATCTA	0.423																																																0													120	92	101					X																	49963344		2203	4300	6503	SO:0001819	synonymous_variant	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.60C>T	X.37:g.49963344G>A				Silent	SNP	ENST00000376056.2	37	CCDS14330.1																																																																																				0.423	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		A	49963344	G	A	49963344	2	1	507	1	0	0	0	0	0	0	0	1	453	1372	48	2		2	AKAP4	23	49963344	Silent	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	8885570	49963344	105307216	50	27437											
FAAH2	158584	hgsc.bcm.edu	37	X	57358084	57358084	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chrX:57358084G>A	ENST00000374900.4	+	4	586	c.466G>A	c.(466-468)Gat>Aat	p.D156N		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	156						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TGCCAAAACAGATGCCACTGT	0.398										HNSCC(52;0.14)																																						0													127	99	108					X																	57358084		2203	4300	6503	SO:0001583	missense	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.466G>A	X.37:g.57358084G>A	ENSP00000364035:p.Asp156Asn		Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609227	0.66558	.	.	ENSG00000165591	ENST00000374900	T	0.70986	-0.53	2.38	2.38	0.29361	Amidase signature domain (2);	0.000000	0.85682	U	0.000000	T	0.82162	0.4977	M	0.84773	2.715	0.48632	D	0.999689	D	0.60575	0.988	D	0.67900	0.954	T	0.82350	-0.0501	10	0.51188	T	0.08	.	10.0897	0.42439	0.0:0.0:1.0:0.0	.	156	Q6GMR7	FAAH2_HUMAN	N	156	ENSP00000364035:D156N	ENSP00000364035:D156N	D	+	1	0	FAAH2	57374809	1.000000	0.71417	0.977000	0.42913	0.748000	0.42578	7.215000	0.77966	0.910000	0.36722	0.506000	0.49869	GAT		0.398	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		A	57358084	G	A	57358084	3	1	507	1	0	0	0	0	1	0	0	0	5356	942	33	2	480	2	FAAH2	23	57358084	Missense_Mutation	SNP	G	TCGA-CJ-4881-01A-01D-1373-10	7394740	57358084	97912476	51	27438											
MFSD2A	84879	broad.mit.edu;hgsc.bcm.edu	37	1	40434358	40434358	+	Silent	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:40434358A>G	ENST00000372809.5	+	13	1652	c.1509A>G	c.(1507-1509)aaA>aaG	p.K503K	MFSD2A_ENST00000372811.5_Silent_p.K490K|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Silent_p.K334K	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	503					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.K490K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGCTCTTCAAAATGTACCCCA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											92	89	90					1																	40434358		2203	4300	6503	SO:0001819	synonymous_variant	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1509A>G	1.37:g.40434358A>G			A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	ENST00000372809.5	37	CCDS44118.1																																																																																				0.587	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		G	40434358	A	G	40434358	2	3	508	1	0	0	0	0	0	0	0	1	9532	11	1	3		3	MFSD2A	1	40434358	Silent	SNP	A	TCGA-CJ-4882-01A-02D-1429-08		40434358	208816263	1	27439											
POMGNT1	55624	broad.mit.edu	37	1	46658993	46658993	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:46658993T>G	ENST00000371984.3	-	12	1251	c.1094A>C	c.(1093-1095)aAt>aCt	p.N365T	POMGNT1_ENST00000371986.3_Missense_Mutation_p.N365T|POMGNT1_ENST00000535522.1_Missense_Mutation_p.N343T|POMGNT1_ENST00000371992.1_Missense_Mutation_p.N365T|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000485714.1_5'UTR	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	365					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)	p.N365T(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CACGCGGGCATTCTTGATGCT	0.577																																																2	Substitution - Missense(2)	kidney(2)											120	108	112					1																	46658993		2203	4300	6503	SO:0001583	missense	55624				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1094A>C	1.37:g.46658993T>G	ENSP00000361052:p.Asn365Thr		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095641	0.76870	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.90304	0.6967	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D	0.67145	0.991;0.996;0.993;0.996;0.993	P;D;D;D;D	0.67548	0.885;0.952;0.936;0.934;0.914	D	0.89400	0.3695	10	0.32370	T	0.25	-21.4406	15.5811	0.76439	0.0:0.0:0.0:1.0	.	343;343;365;222;365	F5H827;B7Z7Q4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;PMGT1_HUMAN	T	365;365;343;365	ENSP00000361052:N365T;ENSP00000361060:N365T;ENSP00000443767:N343T;ENSP00000361054:N365T	ENSP00000361052:N365T	N	-	2	0	POMGNT1	46431580	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.108000	0.77055	2.270000	0.75569	0.459000	0.35465	AAT		0.577	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		G	46658993	T	G	46658993	3	3	508	1	0	0	0	0	1	0	0	0	12245	1493	52	5	932	5	POMGNT1	1	46658993	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	6224635	46658993	202591628	2	27440											
SYCP1	6847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	115489894	115489894	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:115489894G>T	ENST00000369522.3	+	27	2515	c.2275G>T	c.(2275-2277)Gaa>Taa	p.E759*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.E759*	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	759					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.E759*(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCAAAGCTGAACTTTTGTC	0.318																																																1	Substitution - Nonsense(1)	kidney(1)											63	66	65					1																	115489894		2203	4293	6496	SO:0001587	stop_gained	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2275G>T	1.37:g.115489894G>T	ENSP00000358535:p.Glu759*		O14963|Q5VXJ6	Nonsense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234542	0.97399	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	5.12	4.19	0.49359	.	0.171761	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-16.9223	13.4823	0.61342	0.0823:0.0:0.9177:0.0	.	.	.	.	X	759	.	ENSP00000358531:E759X	E	+	1	0	SYCP1	115291417	1.000000	0.71417	0.984000	0.44739	0.458000	0.32498	4.370000	0.59517	2.550000	0.86006	0.650000	0.86243	GAA		0.318	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		T	115489894	G	T	115489894	4	4	508	1	0	0	0	0	0	1	0	0	15436	1291	45	4	2377	4	SYCP1	1	115489894	Nonsense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	68830901	115489894	133760727	3	27441											
NES	10763	broad.mit.edu	37	1	156646329	156646329	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:156646329T>A	ENST00000368223.3	-	1	860	c.728A>T	c.(727-729)gAa>gTa	p.E243V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	243	Coil 2B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.E243V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAACCTCTGTTCCAACGCTGC	0.692																																																1	Substitution - Missense(1)	kidney(1)											11	13	12					1																	156646329		2195	4296	6491	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.728A>T	1.37:g.156646329T>A	ENSP00000357206:p.Glu243Val		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697720	0.88830	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	T	0.20738	2.05	4.32	4.32	0.51571	Filament (1);	0.000000	0.34906	N	0.003588	T	0.38134	0.1029	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.40534	-0.9558	10	0.87932	D	0	.	12.4566	0.55708	0.0:0.0:0.0:1.0	.	243	P48681	NEST_HUMAN	V	243	ENSP00000357206:E243V	ENSP00000255024:E243V	E	-	2	0	NES	154912953	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.734000	0.55037	1.821000	0.53095	0.374000	0.22700	GAA		0.692	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		A	156646329	T	A	156646329	3	1	508	1	0	0	0	0	1	0	0	0	10339	1783	62	5	4153	5	NES	1	156646329	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	41156435	156646329	92604292	4	27442											
DCAF8	50717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160209814	160209814	+	Silent	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:160209814A>G	ENST00000368073.3	-	4	830	c.396T>C	c.(394-396)gaT>gaC	p.D132D	DCAF8_ENST00000326837.2_Silent_p.D132D|DCAF8_ENST00000610139.1_Silent_p.D132D|DCAF8_ENST00000475733.1_Silent_p.D132D|DCAF8_ENST00000608310.1_Silent_p.D286D|DCAF8_ENST00000556710.1_Silent_p.D286D|DCAF8_ENST00000368074.1_Silent_p.D132D			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	132					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D286D(1)|p.D132D(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GGGCCCGCTCATCATCTGATG	0.612																																																2	Substitution - coding silent(2)	kidney(2)											53	53	53					1																	160209814		2203	4300	6503	SO:0001819	synonymous_variant	50717			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24891	protein-coding gene	gene with protein product		615820	"WD repeat domain 42A"	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.396T>C	1.37:g.160209814A>G			D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Silent	SNP	ENST00000368073.3	37	CCDS1200.1																																																																																				0.612	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		G	160209814	A	G	160209814	2	3	508	1	0	0	0	0	0	0	0	1	4278	214	8	3		3	DCAF8	1	160209814	Silent	SNP	A	TCGA-CJ-4882-01A-02D-1429-08	3563485	160209814	89040807	5	27443											
DYRK3	8444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	206822277	206822277	+	Silent	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:206822277C>T	ENST00000367109.2	+	3	1902	c.1734C>T	c.(1732-1734)ccC>ccT	p.P578P	DYRK3_ENST00000367108.3_Silent_p.P558P|DYRK3_ENST00000367106.1_Silent_p.P558P|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	578					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.P578P(1)|p.P543P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTAGTATACCCCTATGCAGTG	0.398																																					Melanoma(164;427 2622 26826 51707)											2	Substitution - coding silent(2)	kidney(2)											97	94	95					1																	206822277		2203	4300	6503	SO:0001819	synonymous_variant	8444			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"regulatory erythroid kinase", "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5", "protein kinase Dyrk3"	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1734C>T	1.37:g.206822277C>T			D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Silent	SNP	ENST00000367109.2	37	CCDS30999.1																																																																																				0.398	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		T	206822277	C	T	206822277	2	4	508	1	0	0	0	0	0	0	0	1	4859	610	22	2		2	DYRK3	1	206822277	Silent	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	46612463	206822277	42428344	6	27444											
IL19	29949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	206972280	206972280	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:206972280C>G	ENST00000340758.2	+	1	66	c.41C>G	c.(40-42)tCc>tGc	p.S14C		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.S14C(1)		central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTGCGTGTTCCTTACCACTC	0.507																																																1	Substitution - Missense(1)	kidney(1)											187	151	163					1																	206972280		2203	4300	6503	SO:0001583	missense	29949			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"Interleukins and interleukin receptors"	5990	protein-coding gene	gene with protein product	"melanoma differentiation associated protein-like protein"	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000340758.2:c.41C>G	1.37:g.206972280C>G	ENSP00000343000:p.Ser14Cys		B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000340758.2	37	CCDS1468.1	.	.	.	.	.	.	.	.	.	.	C	9.985	1.229275	0.22542	.	.	ENSG00000142224	ENST00000340758	T	0.37058	1.22	3.98	3.07	0.35406	.	.	.	.	.	T	0.31513	0.0799	N	0.08118	0	0.19300	N	0.999978	D	0.71674	0.998	P	0.58520	0.84	T	0.08493	-1.0719	9	0.87932	D	0	.	7.7306	0.28786	0.0:0.8862:0.0:0.1138	.	14	Q5VUT3	.	C	14	ENSP00000343000:S14C	ENSP00000343000:S14C	S	+	2	0	IL19	205038903	0.000000	0.05858	0.011000	0.14972	0.005000	0.04900	-0.041000	0.12084	1.267000	0.44247	0.655000	0.94253	TCC		0.507	IL19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088566.3	NM_153758		G	206972280	C	G	206972280	3	3	508	1	0	0	0	0	1	0	0	0	7651	855	30	4	43	4	IL19	1	206972280	Missense_Mutation	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	150003	206972280	42278341	7	27445											
PIGR	5284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207108891	207108891	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:207108891A>G	ENST00000356495.4	-	5	1501	c.1318T>C	c.(1318-1320)Tgg>Cgg	p.W440R		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	440	Ig-like V-type 4.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.W440R(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTCAGACACCAGTAGAAGCCG	0.592											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											64	64	64					1																	207108891		2203	4300	6503	SO:0001583	missense	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1318T>C	1.37:g.207108891A>G	ENSP00000348888:p.Trp440Arg	2165	Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018992	0.75275	.	.	ENSG00000162896	ENST00000356495	T	0.04015	3.73	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.19725	0.0474	M	0.72118	2.19	0.45216	D	0.998228	D	0.89917	1.0	D	0.97110	1.0	T	0.00152	-1.1984	10	0.52906	T	0.07	-4.1283	13.5454	0.61699	1.0:0.0:0.0:0.0	.	440	P01833	PIGR_HUMAN	R	440	ENSP00000348888:W440R	ENSP00000348888:W440R	W	-	1	0	PIGR	205175514	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.249000	0.65427	2.196000	0.70406	0.533000	0.62120	TGG		0.592	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		G	207108891	A	G	207108891	3	3	508	1	0	0	0	0	1	0	0	0	11899	188	7	3	1004	3	PIGR	1	207108891	Missense_Mutation	SNP	A	TCGA-CJ-4882-01A-02D-1429-08	136611	207108891	42141730	8	27446											
SLC35F3	148641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234454501	234454501	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr1:234454501T>A	ENST00000366617.3	+	5	980	c.752T>A	c.(751-753)tTg>tAg	p.L251*	SLC35F3_ENST00000366618.3_Nonsense_Mutation_p.L320*			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	251					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.L320*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CTACAGGTTTTGTTCAAGCTC	0.488																																																1	Substitution - Nonsense(1)	kidney(1)											158	151	153					1																	234454501		2203	4300	6503	SO:0001587	stop_gained	148641				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.752T>A	1.37:g.234454501T>A	ENSP00000355576:p.Leu251*		Q5TDD6|Q8N9C9	Nonsense_Mutation	SNP	ENST00000366617.3	37		.	.	.	.	.	.	.	.	.	.	T	39	7.380195	0.98248	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.206	15.9803	0.80105	0.0:0.0:0.0:1.0	.	.	.	.	X	320;251	.	ENSP00000355576:L251X	L	+	2	0	SLC35F3	232521124	1.000000	0.71417	0.946000	0.38457	0.920000	0.55202	8.040000	0.89188	2.174000	0.68829	0.533000	0.62120	TTG		0.488	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		A	234454501	T	A	234454501	4	1	508	1	0	0	0	0	0	1	0	0	14596	1821	63	5	981	5	SLC35F3	1	234454501	Nonsense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	27345610	234454501	14796120	9	27447											
APOB	338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	21247881	21247881	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:21247881G>A	ENST00000233242.1	-	16	2487	c.2360C>T	c.(2359-2361)gCc>gTc	p.A787V	APOB_ENST00000399256.4_Missense_Mutation_p.A787V	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	787					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A787V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGAGACTGGCAAAACCAAG	0.547																																																1	Substitution - Missense(1)	kidney(1)											86	90	89					2																	21247881		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2360C>T	2.37:g.21247881G>A	ENSP00000233242:p.Ala787Val		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747919	0.30955	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.19250	2.16;2.16	5.7	3.34	0.38264	Vitellinogen, open beta-sheet, subdomain 1 (1);Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	0.530218	0.16931	N	0.193641	T	0.05914	0.0154	N	0.00538	-1.39	0.24736	N	0.993069	B	0.06786	0.001	B	0.04013	0.001	T	0.36553	-0.9743	10	0.14656	T	0.56	.	11.6514	0.51290	0.9195:0.0:0.0805:0.0	.	787	P04114	APOB_HUMAN	V	787	ENSP00000233242:A787V;ENSP00000382200:A787V	ENSP00000233242:A787V	A	-	2	0	APOB	21101386	1.000000	0.71417	0.695000	0.30226	0.363000	0.29612	5.851000	0.69481	0.524000	0.28502	-0.140000	0.14226	GCC		0.547	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21247881	G	A	21247881	3	1	508	1	0	0	0	0	1	0	0	0	785	1203	42	2	11387	2	APOB	2	21247881	Missense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08		21247881	221951492	10	27448											
SLC5A6	8884	broad.mit.edu;hgsc.bcm.edu	37	2	27429797	27429797	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:27429797C>A	ENST00000310574.3	-	4	880	c.407G>T	c.(406-408)cGa>cTa	p.R136L	SLC5A6_ENST00000408041.1_Missense_Mutation_p.R136L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	136					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.R136L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	TTTATTGAATCGAAGCTCCAG	0.463																																																1	Substitution - Missense(1)	kidney(1)											212	215	214					2																	27429797		2203	4300	6503	SO:0001583	missense	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.407G>T	2.37:g.27429797C>A	ENSP00000310208:p.Arg136Leu		B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463485	0.84425	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99278	1.0895	10	0.87932	D	0	.	15.8595	0.79012	0.0:1.0:0.0:0.0	.	136	Q9Y289	SC5A6_HUMAN	L	136	ENSP00000310208:R136L;ENSP00000384853:R136L;ENSP00000403851:R136L;ENSP00000384265:R136L	ENSP00000310208:R136L	R	-	2	0	SLC5A6	27283301	1.000000	0.71417	0.977000	0.42913	0.418000	0.31294	7.236000	0.78154	2.816000	0.96949	0.563000	0.77884	CGA		0.463	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		A	27429797	C	A	27429797	3	1	508	1	0	0	0	0	1	0	0	0	14675	884	31	4	1556	4	SLC5A6	2	27429797	Missense_Mutation	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	6181916	27429797	215769576	11	27449											
PTPN4	5775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	120718482	120718482	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:120718482G>A	ENST00000263708.2	+	23	3004	c.2233G>A	c.(2233-2235)Ggc>Agc	p.G745S	PTPN4_ENST00000544261.1_Missense_Mutation_p.G378S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	745	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.G745S(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTGGGAACAAGGCTCCTCTAT	0.393																																																1	Substitution - Missense(1)	kidney(1)											167	149	155					2																	120718482		2203	4300	6503	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2233G>A	2.37:g.120718482G>A	ENSP00000263708:p.Gly745Ser		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.678767|2.678767	0.47886|0.47886	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000263708;ENST00000544261|ENST00000441089	T;T|.	0.15139|.	2.45;2.45|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.045294|.	0.85682|.	D|.	0.000000|.	T|T	0.59689|0.59689	0.2212|0.2212	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	D|.	0.56035|.	0.974|.	P|.	0.56216|.	0.794|.	T|T	0.52041|0.52041	-0.8628|-0.8628	10|5	0.23891|.	T|.	0.37|.	.|.	20.0118|20.0118	0.97458|0.97458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	745|.	P29074|.	PTN4_HUMAN|.	S|K	745;378|28	ENSP00000263708:G745S;ENSP00000445841:G378S|.	ENSP00000263708:G745S|.	G|R	+|+	1|2	0|0	PTPN4|PTPN4	120434952|120434952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.659000|6.659000	0.74412|0.74412	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	GGC|AGG		0.393	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			A	120718482	G	A	120718482	3	1	508	1	0	0	0	0	1	0	0	0	12796	1000	35	2	2319	2	PTPN4	2	120718482	Missense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	93288685	120718482	122480891	12	27450											
LRP2	4036	broad.mit.edu	37	2	170136059	170136059	+	Missense_Mutation	SNP	T	T	C	rs202154723		TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:170136059T>C	ENST00000263816.3	-	12	1673	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	LRP2_ENST00000443831.1_Missense_Mutation_p.N463S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	463					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.N463S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AACAGAAACATTGAGAACCTC	0.348																																																1	Substitution - Missense(1)	kidney(1)						T	SER/ASN	0,4406		0,0,2203	67	71	70		1388	5.3	1	2		70	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LRP2	NM_004525.2	46	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	benign	463/4656	170136059	3,13003	2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1388A>G	2.37:g.170136059T>C	ENSP00000263816:p.Asn463Ser		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.894849	0.33442	0.0	3.49E-4	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94417	-3.42;-3.42	5.33	5.33	0.75918	Six-bladed beta-propeller, TolB-like (1);	0.093691	0.64402	D	0.000001	D	0.90273	0.6958	N	0.05383	-0.06	0.44373	D	0.997277	D;D	0.64830	0.994;0.962	P;B	0.51101	0.659;0.416	D	0.89895	0.4040	9	.	.	.	.	15.305	0.73985	0.0:0.0:0.0:1.0	.	463;463	E9PC35;P98164	.;LRP2_HUMAN	S	463	ENSP00000263816:N463S;ENSP00000409813:N463S	.	N	-	2	0	LRP2	169844305	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	3.966000	0.56795	2.024000	0.59613	0.528000	0.53228	AAT		0.348	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	170136059	T	C	170136059	3	2	508	1	0	0	0	0	1	0	0	0	8958	1493	52	3	12851	3	LRP2	2	170136059	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	49417577	170136059	73063314	13	27451											
HAT1	8520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	172821890	172821890	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:172821890T>G	ENST00000264108.4	+	5	377	c.341T>G	c.(340-342)aTc>aGc	p.I114S	HAT1_ENST00000392584.1_Missense_Mutation_p.I29S|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	114					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)	p.I114S(1)		breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ATTAGACAAATCATTCCACCT	0.318																																																1	Substitution - Missense(1)	kidney(1)											64	62	63					2																	172821890		2203	4300	6503	SO:0001583	missense	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.341T>G	2.37:g.172821890T>G	ENSP00000264108:p.Ile114Ser		Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.749472	0.49257	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.86	5.86	0.93980	Histone acetyl transferase HAT1 N-terminal (2);Acyl-CoA N-acyltransferase (1);	0.042962	0.85682	D	0.000000	T	0.57533	0.2060	L	0.43646	1.37	0.58432	D	0.999999	P	0.51537	0.946	P	0.46299	0.511	T	0.62760	-0.6786	9	0.87932	D	0	-18.5036	16.2535	0.82498	0.0:0.0:0.0:1.0	.	114	O14929	HAT1_HUMAN	S	29;114	.	ENSP00000264108:I114S	I	+	2	0	HAT1	172530136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.353000	0.79414	2.246000	0.74042	0.482000	0.46254	ATC		0.318	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		G	172821890	T	G	172821890	3	3	508	1	0	0	0	0	1	0	0	0	6966	1435	50	5	359	5	HAT1	2	172821890	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	2685831	172821890	70377483	14	27452											
TTN	7273	broad.mit.edu;hgsc.bcm.edu	37	2	179424711	179424711	+	Silent	SNP	T	T	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:179424711T>A	ENST00000591111.1	-	276	81449	c.81225A>T	c.(81223-81225)acA>acT	p.T27075T	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Silent_p.T28716T|TTN_ENST00000359218.5_Silent_p.T19776T|TTN_ENST00000460472.2_Silent_p.T19651T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.T26148T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.T19843T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27075	Fibronectin type-III 97. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T19843T(1)|p.T19651T(1)|p.T26148T(1)|p.T19776T(1)|p.T26146T(1)		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)			CAGCTCCTGTTGTTAGTCCGC	0.398																																																5	Substitution - coding silent(5)	kidney(5)											76	73	74					2																	179424711		1872	4104	5976	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81225A>T	2.37:g.179424711T>A			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179424711	T	A	179424711	2	1	508	1	0	0	0	0	0	0	0	1	16740	1799	63	5		5	TTN	2	179424711	Silent	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	6602821	179424711	63774662	15	27453											
TTN	7273	broad.mit.edu	37	2	179480458	179480458	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:179480458C>G	ENST00000591111.1	-	208	43671	c.43447G>C	c.(43447-43449)Gag>Cag	p.E14483Q	TTN_ENST00000589042.1_Missense_Mutation_p.E16124Q|TTN_ENST00000359218.5_Missense_Mutation_p.E7184Q|TTN_ENST00000460472.2_Missense_Mutation_p.E7059Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13556Q|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7251Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14483	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E13556Q(2)|p.E7184Q(1)|p.E7059Q(1)|p.E7251Q(1)		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)			AATAAGTACTCTTTTCCTTGA	0.373																																																5	Substitution - Missense(5)	kidney(5)											128	120	123					2																	179480458		1870	4097	5967	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43447G>C	2.37:g.179480458C>G	ENSP00000465570:p.Glu14483Gln		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.40	2.823630	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.96	5.96	0.96718	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73466	0.3590	M	0.66378	2.025	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.73817	-0.3863	9	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	7059;7184;7251;14483	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	13556;7059;7251;7184;7059	ENSP00000343764:E13556Q;ENSP00000434586:E7059Q;ENSP00000340554:E7251Q;ENSP00000352154:E7184Q	ENSP00000340554:E7251Q	E	-	1	0	TTN	179188703	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.686000	0.84128	2.826000	0.97356	0.655000	0.94253	GAG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179480458	C	G	179480458	3	3	508	1	0	0	0	0	1	0	0	0	16740	922	32	4	59743	4	TTN	2	179480458	Missense_Mutation	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	55747	179480458	63718915	16	27454											
SLC19A3	80704	broad.mit.edu;ucsc.edu	37	2	228560780	228560780	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr2:228560780C>A	ENST00000258403.3	-	4	1068	c.997G>T	c.(997-999)Gca>Tca	p.A333S	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.A329S	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	333					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.A333S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TAACCCACTGCAAAGGCAGCC	0.448																																																1	Substitution - Missense(1)	kidney(1)											44	52	49					2																	228560780		2203	4300	6503	SO:0001583	missense	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.997G>T	2.37:g.228560780C>A	ENSP00000258403:p.Ala333Ser			Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006287	0.19199	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.81078	-1.45;-1.45	5.23	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);	0.279707	0.40469	N	0.001081	T	0.63954	0.2555	N	0.25825	0.765	0.09310	N	1	B;B	0.23128	0.012;0.08	B;B	0.28305	0.041;0.088	T	0.45877	-0.9231	10	0.18710	T	0.47	-4.6091	2.3028	0.04166	0.3399:0.395:0.1538:0.1113	.	329;333	F5H2M8;Q9BZV2	.;S19A3_HUMAN	S	333;329	ENSP00000258403:A333S;ENSP00000445519:A329S	ENSP00000258403:A333S	A	-	1	0	SLC19A3	228269024	0.000000	0.05858	0.943000	0.38184	0.979000	0.70002	-0.323000	0.07997	1.372000	0.46190	0.655000	0.94253	GCA		0.448	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			A	228560780	C	A	228560780	3	1	508	1	0	0	0	0	1	0	0	0	14436	710	25	4	505	4	SLC19A3	2	228560780	Missense_Mutation	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	49080322	228560780	14638593	17	27455											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443600	52443600	+	5'Flank	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr3:52443600T>G	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.E31A|BAP1_ENST00000296288.5_Missense_Mutation_p.E31A	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E31A(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTCGTAGATCTCCTCCACTTG	0.617																																																1	Substitution - Missense(1)	kidney(1)											218	227	224					3																	52443600		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443600T>G	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	32	5.141932	0.94560	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61274	0.12;0.12	4.97	4.97	0.65823	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	D	0.83599	0.5289	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89325	0.3643	10	0.87932	D	0	-3.7767	14.6644	0.68896	0.0:0.0:0.0:1.0	.	31	Q92560	BAP1_HUMAN	A	31	ENSP00000417132:E31A;ENSP00000296288:E31A	ENSP00000296288:E31A	E	-	2	0	BAP1	52418640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.825000	0.86693	1.875000	0.54330	0.533000	0.62120	GAG		0.617	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		G	52443600	T	G	52443600	1	3	508	0	1	0	0	0	0	0	0	0	1311	1551	54	5		5	BAP1	3	52443600	5'Flank	SNP	T	TCGA-CJ-4882-01A-02D-1429-08		52443600	145578830	18	27456											
A4GNT	51146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	137843364	137843364	+	Silent	SNP	T	T	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr3:137843364T>C	ENST00000236709.3	-	3	966	c.765A>G	c.(763-765)ttA>ttG	p.L255L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	255					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.L255L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TTTGGGGGTGTAAGAAGGATA	0.483																																																1	Substitution - coding silent(1)	kidney(1)											80	81	81					3																	137843364		2203	4300	6503	SO:0001819	synonymous_variant	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.765A>G	3.37:g.137843364T>C			Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	37	CCDS3097.1																																																																																				0.483	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		C	137843364	T	C	137843364	2	2	508	1	0	0	0	0	0	0	0	1	7	1635	57	3		3	A4GNT	3	137843364	Silent	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	85399764	137843364	60179066	19	27457											
SIAH2	6478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	150460186	150460186	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr3:150460186G>C	ENST00000312960.3	-	2	1244	c.717C>G	c.(715-717)taC>taG	p.Y239*		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	239	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y239*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTGGCCTTCGTACTTCTCTT	0.522																																																1	Substitution - Nonsense(1)	kidney(1)											104	92	96					3																	150460186		2203	4300	6503	SO:0001587	stop_gained	6478			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"seven in absentia (Drosophila) homolog 2", "seven in absentia homolog 2 (Drosophila)"			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.717C>G	3.37:g.150460186G>C	ENSP00000322457:p.Tyr239*		O43270	Nonsense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	G	38	7.283042	0.98186	.	.	ENSG00000181788	ENST00000312960	.	.	.	5.67	-1.56	0.08532	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8502	0.63492	0.5868:0.0:0.4132:0.0	.	.	.	.	X	239	.	ENSP00000322457:Y239X	Y	-	3	2	SIAH2	151942876	0.774000	0.28592	0.978000	0.43139	0.992000	0.81027	-0.090000	0.11163	-0.365000	0.08076	-0.218000	0.12543	TAC		0.522	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		C	150460186	G	C	150460186	4	2	508	1	0	0	0	0	0	1	0	0	14306	1140	40	4	261	4	SIAH2	3	150460186	Nonsense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	12616822	150460186	47562244	20	27458											
ZNF518B	85460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	10447285	10447285	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr4:10447285T>C	ENST00000326756.3	-	3	1106	c.668A>G	c.(667-669)aAa>aGa	p.K223R		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	223					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K223R(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GGCAACAGCTTTGACTGGCCG	0.418																																																1	Substitution - Missense(1)	kidney(1)											192	198	196					4																	10447285		2203	4300	6503	SO:0001583	missense	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.668A>G	4.37:g.10447285T>C	ENSP00000317614:p.Lys223Arg		Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.400839	0.42613	.	.	ENSG00000178163	ENST00000326756	T	0.01821	4.62	6.17	-0.392	0.12442	.	0.201243	0.34156	N	0.004215	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.49447	-0.8939	10	0.14252	T	0.57	-21.2497	6.563	0.22497	0.0:0.3316:0.1221:0.5463	.	223	Q9C0D4	Z518B_HUMAN	R	223	ENSP00000317614:K223R	ENSP00000317614:K223R	K	-	2	0	ZNF518B	10056383	0.000000	0.05858	0.002000	0.10522	0.279000	0.26890	0.108000	0.15396	-0.012000	0.14223	0.533000	0.62120	AAA		0.418	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		C	10447285	T	C	10447285	3	2	508	1	0	0	0	0	1	0	0	0	17968	1841	64	3	2560	3	ZNF518B	4	10447285	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08		10447285	180706991	21	27459											
PCDH7	5099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	31144244	31144244	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr4:31144244G>T	ENST00000543491.1	+	3	3541	c.3541G>T	c.(3541-3543)Gat>Tat	p.D1181Y				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1126Y(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CATGCCTGTTGATGAACGAGG	0.537																																																1	Substitution - Missense(1)	kidney(1)											96	95	96					4																	31144244		1969	4173	6142	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3541G>T	4.37:g.31144244G>T	ENSP00000441802:p.Asp1181Tyr		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	CCDS54753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.28|15.28	2.788204|2.788204	0.49997|0.49997	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000543491;ENST00000333135|ENST00000511884	T|.	0.52754|.	0.65|.	5.86|5.86	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	T|.	0.57888|.	0.2084|.	L|L	0.36672|0.36672	1.1|1.1	0.44908|0.44908	D|D	0.997922|0.997922	P;P|.	0.50528|.	0.936;0.936|.	P;P|.	0.53809|.	0.735;0.735|.	T|.	0.50083|.	-0.8869|.	9|.	0.66056|.	D|.	0.02|.	.|.	14.774|14.774	0.69703|0.69703	0.069:0.0:0.931:0.0|0.069:0.0:0.931:0.0	.|.	1181;1126|.	F5GWJ1;O60245-3|.	.;.|.	Y|L	1181;1126|862	ENSP00000441802:D1181Y|.	ENSP00000330302:D1126Y|.	D|X	+|+	1|2	0|2	PCDH7|PCDH7	30753342|30753342	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.876000|0.876000	0.50452|0.50452	7.597000|7.597000	0.82733|0.82733	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.537	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		T	31144244	G	T	31144244	3	4	508	1	0	0	0	0	1	0	0	0	11518	1290	45	4	3636	4	PCDH7	4	31144244	Missense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	20696959	31144244	160010032	22	27460											
HADH	3033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	108935617	108935617	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr4:108935617A>G	ENST00000309522.3	+	3	441	c.292A>G	c.(292-294)Agc>Ggc	p.S98G	HADH_ENST00000505878.1_Missense_Mutation_p.S102G|HADH_ENST00000454409.2_Missense_Mutation_p.S102G|HADH_ENST00000403312.1_Missense_Mutation_p.S157G|HADH_ENST00000603302.1_Missense_Mutation_p.S98G	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	427					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.S98G(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		GAAGACCCTGAGCACCATAGC	0.512																																																2	Substitution - Missense(2)	kidney(2)											152	141	145					4																	108935617		2203	4300	6503	SO:0001583	missense	3033			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain", "hydroxyacyl-Coenzyme A dehydrogenase"	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.292A>G	4.37:g.108935617A>G	ENSP00000312288:p.Ser98Gly		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	A	6.708	0.499272	0.12762	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	T;T;T	0.75477	-0.94;-0.94;-0.94	5.84	3.22	0.36961	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.658987	0.17780	N	0.162291	T	0.48314	0.1493	N	0.11870	0.19	0.26746	N	0.970298	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.001;0.002;0.004	T	0.30504	-0.9976	10	0.07644	T	0.81	-9.9206	5.4183	0.16386	0.6202:0.1341:0.2457:0.0	.	157;102;98	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	G	98;98;102;102	ENSP00000312288:S98G;ENSP00000425952:S102G;ENSP00000395167:S102G	ENSP00000312288:S98G	S	+	1	0	HADH	109155066	1.000000	0.71417	0.997000	0.53966	0.056000	0.15407	3.286000	0.51724	0.903000	0.36546	0.533000	0.62120	AGC		0.512	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		G	108935617	A	G	108935617	3	3	508	1	0	0	0	0	1	0	0	0	6944	304	11	3	302	3	HADH	4	108935617	Missense_Mutation	SNP	A	TCGA-CJ-4882-01A-02D-1429-08	77791373	108935617	82218659	23	27461											
NRG2	9542	broad.mit.edu;hgsc.bcm.edu	37	5	139244754	139244754	+	Intron	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr5:139244754G>A	ENST00000361474.1	-	5	1414				NRG2_ENST00000358522.3_Missense_Mutation_p.P373S|NRG2_ENST00000289409.4_Missense_Mutation_p.P373S|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000394770.1_Silent_p.V398V|NRG2_ENST00000289422.7_Intron|NRG2_ENST00000340391.3_Intron|NRG2_ENST00000545385.1_Missense_Mutation_p.P373S	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2						embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCCCACAGGACACCTACCA	0.517																																																0													74	74	74					5																	139244754		2203	4300	6503	SO:0001627	intron_variant	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1189+379C>T	5.37:g.139244754G>A				Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864468	0.71949	.	.	ENSG00000158458	ENST00000545385;ENST00000289409;ENST00000358522	T;T;T	0.59772	0.24;0.24;0.24	5.59	5.59	0.84812	.	.	.	.	.	T	0.66317	0.2777	M	0.75615	2.305	0.80722	D	1	P;P	0.41546	0.532;0.754	B;P	0.44623	0.376;0.455	T	0.70883	-0.4751	9	0.72032	D	0.01	.	17.7801	0.88522	0.0:0.0:1.0:0.0	.	373;373	O14511-2;O14511-4	.;.	S	373	ENSP00000438753:P373S;ENSP00000289409:P373S;ENSP00000351323:P373S	ENSP00000289409:P373S	P	-	1	0	NRG2	139224938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.220000	0.95180	2.635000	0.89317	0.650000	0.86243	CCT		0.517	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		A	139244754	G	A	139244754	1	1	508	0	1	0	0	0	0	0	0	0	10650	1174	41	2		2	NRG2	5	139244754	Intron	SNP	G	TCGA-CJ-4882-01A-02D-1429-08		139244754	41670506	24	27462											
RFX6	222546	broad.mit.edu;hgsc.bcm.edu	37	6	117248535	117248535	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr6:117248535G>T	ENST00000332958.2	+	17	2247	c.2231G>T	c.(2230-2232)tGt>tTt	p.C744F		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	744					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.C744F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGTGGCAGCTGTGCGGGGTCT	0.522																																																1	Substitution - Missense(1)	kidney(1)											62	58	60					6																	117248535		2203	4300	6503	SO:0001583	missense	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2231G>T	6.37:g.117248535G>T	ENSP00000332208:p.Cys744Phe		Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005804	0.54254	.	.	ENSG00000185002	ENST00000332958	T	0.57107	0.42	5.15	5.15	0.70609	.	0.162273	0.56097	D	0.000028	T	0.49830	0.1580	L	0.60455	1.87	0.58432	D	0.999992	P	0.49358	0.923	P	0.46543	0.52	T	0.57528	-0.7796	10	0.87932	D	0	-17.9708	18.8169	0.92079	0.0:0.0:1.0:0.0	.	744	Q8HWS3	RFX6_HUMAN	F	744	ENSP00000332208:C744F	ENSP00000332208:C744F	C	+	2	0	RFX6	117355228	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	7.566000	0.82347	2.682000	0.91365	0.655000	0.94253	TGT		0.522	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		T	117248535	G	T	117248535	3	4	508	1	0	0	0	0	1	0	0	0	13273	1377	48	4	2297	4	RFX6	6	117248535	Missense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08		117248535	53866532	25	27463											
ZPBP	11055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	50070788	50070788	+	Silent	SNP	A	A	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr7:50070788A>T	ENST00000046087.2	-	5	675	c.606T>A	c.(604-606)ctT>ctA	p.L202L	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.L201L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	202					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.L202L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AAAGGTCAAGAAGCAGTTTGC	0.343																																																1	Substitution - coding silent(1)	kidney(1)											68	72	70					7																	50070788		2203	4299	6502	SO:0001819	synonymous_variant	11055			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.606T>A	7.37:g.50070788A>T			A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	CCDS5509.1																																																																																				0.343	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		T	50070788	A	T	50070788	2	4	508	1	0	0	0	0	0	0	0	1	18224	233	9	5		5	ZPBP	7	50070788	Silent	SNP	A	TCGA-CJ-4882-01A-02D-1429-08		50070788	109067875	26	27464											
TMEM130	222865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	98457932	98457932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr7:98457932G>A	ENST00000416379.2	-	3	425	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	TMEM130_ENST00000345589.4_Nonsense_Mutation_p.Q39*|TMEM130_ENST00000546258.1_Nonsense_Mutation_p.Q122*|TMEM130_ENST00000339375.4_Nonsense_Mutation_p.Q141*|TMEM130_ENST00000450876.1_Nonsense_Mutation_p.Q57*			Q8N3G9	TM130_HUMAN	transmembrane protein 130	141						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q141*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAGTGTTCTGGGTGACAACA	0.557																																																1	Substitution - Nonsense(1)	kidney(1)											115	102	106					7																	98457932		2203	4300	6503	SO:0001587	stop_gained	222865				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.421C>T	7.37:g.98457932G>A	ENSP00000413163:p.Gln141*		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Nonsense_Mutation	SNP	ENST00000416379.2	37	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900286	0.52227	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	.	.	.	4.27	4.27	0.50696	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-19.4609	10.961	0.47385	0.0:0.1908:0.8092:0.0	.	.	.	.	X	141;141;57;39;122	.	ENSP00000341256:Q141X	Q	-	1	0	TMEM130	98295868	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	5.086000	0.64474	2.313000	0.78055	0.650000	0.86243	CAG		0.557	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		A	98457932	G	A	98457932	4	1	508	1	0	0	0	0	0	1	0	0	16048	1357	47	2	910	2	TMEM130	7	98457932	Nonsense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	48387144	98457932	60680731	27	27465											
ZNF425	155054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148802500	148802500	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr7:148802500T>G	ENST00000378061.2	-	4	595	c.463A>C	c.(463-465)Aat>Cat	p.N155H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	155					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N155H(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTTTTTTATTTAGAATCTCT	0.478																																																1	Substitution - Missense(1)	kidney(1)											114	114	114					7																	148802500		2203	4300	6503	SO:0001583	missense	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.463A>C	7.37:g.148802500T>G	ENSP00000367300:p.Asn155His		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	T	6.630	0.484688	0.12641	.	.	ENSG00000204947	ENST00000378061	T	0.07800	3.16	2.75	-1.45	0.08828	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47522	-0.9111	9	0.15952	T	0.53	.	6.0276	0.19663	0.1675:0.0:0.5621:0.2704	.	155	Q6IV72	ZN425_HUMAN	H	155	ENSP00000367300:N155H	ENSP00000367300:N155H	N	-	1	0	ZNF425	148433433	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.401000	0.02502	-0.625000	0.05604	-1.139000	0.01908	AAT		0.478	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		G	148802500	T	G	148802500	3	3	508	1	0	0	0	0	1	0	0	0	17904	1841	64	5	1799	5	ZNF425	7	148802500	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	50344568	148802500	10336163	28	27466											
CCDC25	55246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27605739	27605739	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr8:27605739T>G	ENST00000356537.4	-	7	499	c.406A>C	c.(406-408)Acc>Ccc	p.T136P	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000539095.1_Missense_Mutation_p.T68P|CCDC25_ENST00000522915.1_Missense_Mutation_p.T68P	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	136						extracellular vesicular exosome (GO:0070062)		p.T136P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TCGACTTTGGTCTTTTCTAAT	0.388																																																1	Substitution - Missense(1)	kidney(1)											122	118	119					8																	27605739		2203	4300	6503	SO:0001583	missense	55246			AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.406A>C	8.37:g.27605739T>G	ENSP00000348933:p.Thr136Pro		Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	37	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	T	26.8	4.772809	0.90108	.	.	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	M	0.93016	3.37	0.80722	D	1	D	0.56746	0.977	P	0.52031	0.688	D	0.84288	0.0498	9	0.87932	D	0	-8.3639	13.7503	0.62904	0.0:0.0:0.0:1.0	.	136	Q86WR0	CCD25_HUMAN	P	136;68;68	.	ENSP00000348933:T136P	T	-	1	0	CCDC25	27661658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.850000	0.75420	2.132000	0.65825	0.533000	0.62120	ACC		0.388	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246		G	27605739	T	G	27605739	3	3	508	1	0	0	0	0	1	0	0	0	2802	1667	58	5	232	5	CCDC25	8	27605739	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08		27605739	118758283	29	27467											
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106815671	106815671	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr8:106815671T>C	ENST00000407775.2	+	8	3611	c.3361T>C	c.(3361-3363)Tgc>Cgc	p.C1121R	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.C852R|ZFPM2_ENST00000520492.1_Missense_Mutation_p.C989R|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.C989R	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1121					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C1121R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGGAAATATTGCCGGCTATG	0.418																																																1	Substitution - Missense(1)	kidney(1)											42	42	42					8																	106815671		1865	4107	5972	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3361T>C	8.37:g.106815671T>C	ENSP00000384179:p.Cys1121Arg		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.822800	0.50739	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	D;D;D;D	0.99925	-8.03;-8.03;-8.03;-8.03	5.81	5.81	0.92471	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95547	0.8617	10	0.87932	D	0	.	16.1671	0.81777	0.0:0.0:0.0:1.0	.	1121	Q8WW38	FOG2_HUMAN	R	1121;989;989;852	ENSP00000384179:C1121R;ENSP00000430757:C989R;ENSP00000428720:C989R;ENSP00000367733:C852R	ENSP00000367733:C852R	C	+	1	0	ZFPM2	106884847	1.000000	0.71417	0.973000	0.42090	0.978000	0.69477	8.040000	0.89188	2.224000	0.72417	0.528000	0.53228	TGC		0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			C	106815671	T	C	106815671	3	2	508	1	0	0	0	0	1	0	0	0	17663	1812	63	3	3391	3	ZFPM2	8	106815671	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	79209932	106815671	39548351	30	27468											
FOXD4	2298	hgsc.bcm.edu	37	9	116848	116849	+	Frame_Shift_Ins	INS	-	-	A	rs532235124	byFrequency	TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr9:116848_116849insA	ENST00000382500.2	-	1	1568_1569	c.1271_1272insT	c.(1270-1272)ttafs	p.L424fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	424					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGGGCGATACTAAAAAAACTGG	0.688													|||unknown(NO_COVERAGE)	132	0.0263578	0.0628	0.0086	5008	,	,		18398	0.004		0.0	False		,,,				2504	0.0399															0										182,3900		16,150,1875						2.4	0			17	3,8017		0,3,4007	no	frameshift	FOXD4	NM_207305.3		16,153,5882	A1A1,A1R,RR		0.0374,4.4586,1.5287				185,11917				SO:0001589	frameshift_variant	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.1272dupT	9.37:g.116855_116855dupA	ENSP00000371940:p.Leu424fs		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	CCDS34975.1																																																																																				0.688	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		A	116849	-	A	116848	7	5	508	1	0	1	1	0	0	0	0	0	6001	1519	53	0	51	0	FOXD4	9	116848	Frame_Shift_Ins	INS	-	TCGA-CJ-4882-01A-02D-1429-08		116848	141096583	31	27469											
NMT2	9397	broad.mit.edu;hgsc.bcm.edu	37	10	15161511	15161511	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr10:15161511A>T	ENST00000378165.4	-	9	1081	c.1001T>A	c.(1000-1002)gTt>gAt	p.V334D	NMT2_ENST00000535341.1_Splice_Site_p.V321D|NMT2_ENST00000540259.1_Splice_Site_p.V146D|NMT2_ENST00000378150.1_Splice_Site_p.V321D|RPP38_ENST00000451677.1_Intron	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	334					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.V334D(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						AGTCTTTGTAACCTTGTTGGA	0.428																																					Melanoma(117;1345 1645 4130 12688 30625)											1	Substitution - Missense(1)	kidney(1)											114	109	110					10																	15161511		2203	4300	6503	SO:0001630	splice_region_variant	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1000-1T>A	10.37:g.15161511A>T			B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	A	6.025	0.372906	0.11409	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.40476	1.03	5.57	0.681	0.17986	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.332785	0.35407	N	0.003239	T	0.25306	0.0615	N	0.16368	0.405	0.45883	D	0.99873	B;B;B	0.23990	0.011;0.095;0.04	B;B;B	0.33121	0.034;0.158;0.102	T	0.04333	-1.0959	9	.	.	.	-6.2896	9.0599	0.36427	0.4111:0.0:0.5888:0.0	.	334;321;334	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	D	334;321;365;146;321	ENSP00000367407:V334D	.	V	-	2	0	NMT2	15201517	1.000000	0.71417	0.865000	0.33974	0.330000	0.28571	2.432000	0.44784	0.084000	0.17077	0.533000	0.62120	GTT		0.428	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808	Missense_Mutation	T	15161511	A	T	15161511	5	4	508	1	0	0	0	0	0	0	1	0	10506	57	2	5	511	5	NMT2	10	15161511	Splice_Site	SNP	A	TCGA-CJ-4882-01A-02D-1429-08		15161511	120373236	32	27470											
ST8SIA6	338596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	17432566	17432566	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr10:17432566T>A	ENST00000377602.4	-	3	328	c.254A>T	c.(253-255)cAa>cTa	p.Q85L	ST8SIA6-AS1_ENST00000377597.2_RNA|ST8SIA6-AS1_ENST00000451225.2_RNA|ST8SIA6-AS1_ENST00000457649.2_RNA	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	85					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.Q85L(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AATGCCATATTGCAGATTTTT	0.333																																																1	Substitution - Missense(1)	kidney(1)											172	164	166					10																	17432566		2203	4300	6503	SO:0001583	missense	338596				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"Sialyltransferases"	23317	protein-coding gene	gene with protein product	"ST8Sia VI"	610139	"sialyltransferase 8F (alpha-2, 8-sialyltransferase)"	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.254A>T	10.37:g.17432566T>A	ENSP00000366827:p.Gln85Leu		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	T	5.394	0.257905	0.10239	.	.	ENSG00000148488	ENST00000377602	T	0.23950	1.88	4.6	1.02	0.19986	.	0.540708	0.19329	N	0.116957	T	0.18383	0.0441	L	0.53249	1.67	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16719	-1.0393	10	0.30854	T	0.27	-20.7565	2.7518	0.05283	0.1899:0.2052:0.0:0.6048	.	85	P61647	SIA8F_HUMAN	L	85	ENSP00000366827:Q85L	ENSP00000366827:Q85L	Q	-	2	0	ST8SIA6	17472572	0.426000	0.25506	0.004000	0.12327	0.044000	0.14063	1.213000	0.32407	0.347000	0.23924	-0.327000	0.08410	CAA		0.333	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		A	17432566	T	A	17432566	3	1	508	1	0	0	0	0	1	0	0	0	15241	1812	63	5	966	5	ST8SIA6	10	17432566	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	2271055	17432566	118102181	33	27471											
IFIT2	3433	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	91065757	91065757	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr10:91065757A>C	ENST00000371826.3	+	2	213	c.44A>C	c.(43-45)cAa>cCa	p.Q15P	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	15					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.Q15P(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AGCCTACGGCAACTAAAATGC	0.403																																																1	Substitution - Missense(1)	kidney(1)											88	87	87					10																	91065757		1870	4109	5979	SO:0001583	missense	3433			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.44A>C	10.37:g.91065757A>C	ENSP00000360891:p.Gln15Pro		Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281122	0.40394	.	.	ENSG00000119922	ENST00000371826	T	0.58652	0.32	4.58	2.27	0.28462	.	0.176337	0.37761	U	0.001952	T	0.60945	0.2308	M	0.83118	2.625	0.35963	D	0.834776	P	0.45396	0.857	P	0.44477	0.451	T	0.70536	-0.4845	10	0.87932	D	0	-4.9375	8.7998	0.34901	0.8431:0.0:0.1569:0.0	.	15	P09913	IFIT2_HUMAN	P	15	ENSP00000360891:Q15P	ENSP00000360891:Q15P	Q	+	2	0	IFIT2	91055737	0.322000	0.24634	0.172000	0.22920	0.962000	0.63368	2.605000	0.46283	0.516000	0.28340	0.533000	0.62120	CAA		0.403	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		C	91065757	A	C	91065757	3	2	508	1	0	0	0	0	1	0	0	0	7525	130	5	5	50	5	IFIT2	10	91065757	Missense_Mutation	SNP	A	TCGA-CJ-4882-01A-02D-1429-08	73633191	91065757	44468990	34	27472											
WDR11	55717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	122661797	122661797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr10:122661797G>T	ENST00000263461.6	+	22	2962	c.2716G>T	c.(2716-2718)Gaa>Taa	p.E906*	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.E906*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCTTGATCCAGAATTCACTCT	0.358																																																1	Substitution - Nonsense(1)	kidney(1)											104	100	102					10																	122661797		2203	4300	6503	SO:0001587	stop_gained	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2716G>T	10.37:g.122661797G>T	ENSP00000263461:p.Glu906*		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	42	9.407145	0.99161	.	.	ENSG00000120008	ENST00000263461	.	.	.	5.77	5.77	0.91146	.	0.141517	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-13.5085	20.3473	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	X	906	.	ENSP00000263461:E906X	E	+	1	0	WDR11	122651787	1.000000	0.71417	0.972000	0.41901	0.959000	0.62525	6.435000	0.73412	2.884000	0.98904	0.655000	0.94253	GAA		0.358	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			T	122661797	G	T	122661797	4	4	508	1	0	0	0	0	0	1	0	0	17278	943	33	4	2802	4	WDR11	10	122661797	Nonsense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	31596040	122661797	12872950	35	27473											
KIAA0652	9776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46691049	46691049	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:46691049A>G	ENST00000434074.1	+	16	2132	c.1443A>G	c.(1441-1443)atA>atG	p.I481M	ATG13_ENST00000524625.1_Missense_Mutation_p.I444M|ATG13_ENST00000312040.4_Missense_Mutation_p.I481M|ATG13_ENST00000528494.1_Missense_Mutation_p.I514M|ATG13_ENST00000359513.4_Missense_Mutation_p.I481M|ATG13_ENST00000529655.1_Missense_Mutation_p.I444M|ATG13_ENST00000530500.1_Missense_Mutation_p.I365M|ATG13_ENST00000526508.1_Missense_Mutation_p.I481M|ATG13_ENST00000451945.1_Missense_Mutation_p.I444M	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	481					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)	p.I514M(1)|p.I444M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GCCTCTCCATAGATATTGGAG	0.473																																																2	Substitution - Missense(2)	kidney(2)											115	107	110					11																	46691049		2201	4299	6500	SO:0001583	missense	9776			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1443A>G	11.37:g.46691049A>G	ENSP00000400642:p.Ile481Met		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348867	0.61183	.	.	ENSG00000175224	ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494	.	.	.	5.59	-2.04	0.07343	.	0.095808	0.64402	D	0.000002	T	0.46268	0.1384	L	0.50333	1.59	0.40213	D	0.97764	B;P;P;P	0.50443	0.12;0.684;0.911;0.935	B;B;P;P	0.48738	0.053;0.219;0.491;0.588	T	0.47420	-0.9119	9	0.62326	D	0.03	-6.5666	6.5864	0.22622	0.3444:0.3488:0.0:0.3067	.	365;481;514;444	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	M	481;481;444;444;365;481;444;481;514	.	ENSP00000310321:I481M	I	+	3	3	ATG13	46647625	0.673000	0.27539	0.997000	0.53966	0.999000	0.98932	-0.193000	0.09573	0.026000	0.15269	0.533000	0.62120	ATA		0.473	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		G	46691049	A	G	46691049	3	3	508	1	0	0	0	0	1	0	0	0	8190	410	15	3	1501	3	KIAA0652	11	46691049	Missense_Mutation	SNP	A	TCGA-CJ-4882-01A-02D-1429-08		46691049	88315467	36	27474											
LRP4	4038	broad.mit.edu;hgsc.bcm.edu	37	11	46880582	46880582	+	Silent	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:46880582G>A	ENST00000378623.1	-	38	5912	c.5670C>T	c.(5668-5670)gaC>gaT	p.D1890D	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1890					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.D1890D(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCAGCCCGTGTCTGGCAGAG	0.542																																																1	Substitution - coding silent(1)	kidney(1)											84	65	71					11																	46880582		2201	4299	6500	SO:0001819	synonymous_variant	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5670C>T	11.37:g.46880582G>A			B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																				0.542	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46880582	G	A	46880582	2	1	508	1	0	0	0	0	0	0	0	1	8961	1368	48	2		2	LRP4	11	46880582	Silent	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	189533	46880582	88125934	37	27475											
OR4A16	81327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55111083	55111083	+	Missense_Mutation	SNP	G	G	T	rs143065334		TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:55111083G>T	ENST00000314721.2	+	1	457	c.407G>T	c.(406-408)cGa>cTa	p.R136L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R136L(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCATGAATCGACTGGTTTGC	0.478																																																1	Substitution - Missense(1)	kidney(1)											180	163	169					11																	55111083		2201	4296	6497	SO:0001583	missense	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.407G>T	11.37:g.55111083G>T	ENSP00000325128:p.Arg136Leu		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	7.750	0.703038	0.15172	.	.	ENSG00000181961	ENST00000314721	T	0.24908	1.83	2.69	0.683	0.17998	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24431	0.0592	L	0.55213	1.73	0.09310	N	1	P	0.38110	0.618	B	0.42959	0.403	T	0.27020	-1.0086	9	0.62326	D	0.03	.	1.9858	0.03436	0.3375:0.0:0.3979:0.2645	.	136	Q8NH70	O4A16_HUMAN	L	136	ENSP00000325128:R136L	ENSP00000325128:R136L	R	+	2	0	OR4A16	54867659	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-1.869000	0.01643	0.433000	0.26313	0.423000	0.28283	CGA		0.478	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		T	55111083	G	T	55111083	3	4	508	1	0	0	0	0	1	0	0	0	11043	1058	37	4	409	4	OR4A16	11	55111083	Missense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	8230501	55111083	79895433	38	27476											
SLC22A6	9356	broad.mit.edu	37	11	62751897	62751897	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:62751897G>T	ENST00000377871.3	-	1	532	c.266C>A	c.(265-267)cCc>cAc	p.P89H	SLC22A6_ENST00000458333.2_Missense_Mutation_p.P89H|SLC22A6_ENST00000421062.2_Missense_Mutation_p.P89H|SLC22A6_ENST00000360421.4_Missense_Mutation_p.P89H|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	89					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.P89H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ATTGAGAAAGGGCAGTCCCCA	0.627																																																1	Substitution - Missense(1)	kidney(1)											81	81	81					11																	62751897		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.266C>A	11.37:g.62751897G>T	ENSP00000367102:p.Pro89His		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	7.213	0.595747	0.13875	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	4.63	1.46	0.22682	.	0.309524	0.30830	N	0.008795	T	0.34832	0.0911	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.17038	0.02;0.02;0.012;0.02	B;B;B;B	0.20767	0.031;0.031;0.014;0.02	T	0.22765	-1.0207	10	0.42905	T	0.14	.	1.64	0.02750	0.1871:0.1649:0.4782:0.1698	.	89;89;89;89	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	H	89;68;89;89;89	ENSP00000353597:P89H;ENSP00000367102:P89H;ENSP00000396401:P89H;ENSP00000404441:P89H	ENSP00000353597:P89H	P	-	2	0	SLC22A6	62508473	0.007000	0.16637	0.001000	0.08648	0.546000	0.35178	0.915000	0.28638	0.545000	0.28902	0.557000	0.71058	CCC		0.627	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		T	62751897	G	T	62751897	3	4	508	1	0	0	0	0	1	0	0	0	14464	1232	43	4	1465	4	SLC22A6	11	62751897	Missense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	7640814	62751897	72254619	39	27477											
OTUB1	55611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63764641	63764641	+	Silent	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:63764641C>A	ENST00000538426.1	+	6	587	c.543C>A	c.(541-543)ggC>ggA	p.G181G	OTUB1_ENST00000543988.1_Silent_p.G151G|OTUB1_ENST00000428192.2_Silent_p.G181G|OTUB1_ENST00000541478.1_Silent_p.G80G|OTUB1_ENST00000543004.1_Silent_p.G190G|OTUB1_ENST00000422031.2_Silent_p.G218G|OTUB1_ENST00000535715.1_Silent_p.G181G	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	181	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)	p.G181G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						TCACCTCGGGCTACCTGCAGC	0.607																																																1	Substitution - coding silent(1)	kidney(1)											108	97	101					11																	63764641		2201	4297	6498	SO:0001819	synonymous_variant	55611			AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"OTU domain containing"	23077	protein-coding gene	gene with protein product		608337	"OTU domain, ubiquitin aldehyde binding 1"			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.543C>A	11.37:g.63764641C>A			Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Silent	SNP	ENST00000538426.1	37	CCDS8055.1																																																																																				0.607	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		A	63764641	C	A	63764641	2	1	508	1	0	0	0	0	0	0	0	1	11313	784	28	4		4	OTUB1	11	63764641	Silent	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	1012744	63764641	71241875	40	27478											
ADRBK1	156	broad.mit.edu	37	11	67034245	67034246	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:67034245_67034246delCG	ENST00000308595.5	+	1	365_366	c.75_76delCG	c.(73-78)gccgcgfs	p.AA25fs	ADRBK1_ENST00000526285.1_Frame_Shift_Del_p.AA25fs	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	25	N-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCACGCCGGCCGCGCGCGCCAG	0.757																																																0																																										SO:0001589	frameshift_variant	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.75_76delCG	11.37:g.67034251_67034252delCG	ENSP00000312262:p.Ala25fs		B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Del	DEL	ENST00000308595.5	37	CCDS8156.1																																																																																				0.757	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		-	67034246	CG	-	67034245	7	5	508	1	0	1	0	1	0	0	0	0	343	639	23	0	77	0	ADRBK1	11	67034245	Frame_Shift_Del	DEL	CG	TCGA-CJ-4882-01A-02D-1429-08	3269604	67034245	67972271	41	27479											
KDM4DL	390245	broad.mit.edu	37	11	94759338	94759338	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr11:94759338C>A	ENST00000450979.2	+	1	917	c.617C>A	c.(616-618)cCc>cAc	p.P206H		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	206	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.P206H(2)		breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TTTGGGGAGCCCAAAACTTGG	0.562																																																2	Substitution - Missense(2)	kidney(2)											59	61	60					11																	94759338		692	1591	2283	SO:0001583	missense	0			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.617C>A	11.37:g.94759338C>A	ENSP00000397239:p.Pro206His			Missense_Mutation	SNP	ENST00000450979.2	37	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	13.37	2.216625	0.39201	.	.	ENSG00000235268	ENST00000450979	T	0.72394	-0.65	2.18	2.18	0.27775	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.	.	.	.	D	0.86401	0.5924	H	0.94264	3.515	0.39998	D	0.975123	D	0.89917	1.0	D	0.91635	0.999	D	0.88729	0.3235	9	0.87932	D	0	-23.6261	10.4356	0.44433	0.0:1.0:0.0:0.0	.	206	B2RXH2	KD4DL_HUMAN	H	206	ENSP00000397239:P206H	ENSP00000397239:P206H	P	+	2	0	KDM4DL	94398986	1.000000	0.71417	0.929000	0.37066	0.183000	0.23260	6.774000	0.75012	1.543000	0.49345	0.455000	0.32223	CCC		0.562	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		A	94759338	C	A	94759338	3	1	508	1	0	0	0	0	1	0	0	0	8134	623	22	4	619	4	KDM4DL	11	94759338	Missense_Mutation	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	27725093	94759338	40247178	42	27480											
TAS2R50	259296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	11139225	11139225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr12:11139225C>A	ENST00000506868.1	-	1	286	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	79					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.E79*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						ATTCTTAATTCTACACTATAA	0.378																																																1	Substitution - Nonsense(1)	kidney(1)											66	75	72					12																	11139225		2203	4297	6500	SO:0001587	stop_gained	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.235G>T	12.37:g.11139225C>A	ENSP00000424040:p.Glu79*		P59545|Q2M255|Q645Y0	Nonsense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329030	0.41197	.	.	ENSG00000212126	ENST00000506868	.	.	.	2.01	-0.124	0.13523	.	5.078570	0.00691	U	0.000729	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	0.7075	0.00918	0.2423:0.3502:0.2385:0.169	.	.	.	.	X	79	.	ENSP00000424040:E79X	E	-	1	0	TAS2R50	11030492	0.000000	0.05858	0.005000	0.12908	0.171000	0.22731	-1.726000	0.01861	0.142000	0.18901	0.313000	0.20887	GAA		0.378	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		A	11139225	C	A	11139225	4	1	508	1	0	0	0	0	0	1	0	0	15589	922	32	4	668	4	TAS2R50	12	11139225	Nonsense_Mutation	SNP	C	TCGA-CJ-4882-01A-02D-1429-08		11139225	122712670	43	27481											
PPFIBP1	8496	broad.mit.edu	37	12	27799072	27799072	+	Silent	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr12:27799072C>T	ENST00000318304.8	+	5	631	c.348C>T	c.(346-348)ctC>ctT	p.L116L	PPFIBP1_ENST00000228425.6_Silent_p.L116L|PPFIBP1_ENST00000535047.1_Silent_p.L116L|PPFIBP1_ENST00000542629.1_Silent_p.L116L|PPFIBP1_ENST00000537927.1_5'UTR	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	116					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.L116L(4)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AAGAATCCCTCGTTCTTCAGG	0.398																																																4	Substitution - coding silent(4)	prostate(2)|kidney(2)											95	87	90					12																	27799072		2203	4300	6503	SO:0001819	synonymous_variant	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.348C>T	12.37:g.27799072C>T			O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	CCDS55812.1																																																																																				0.398	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		T	27799072	C	T	27799072	2	4	508	1	0	0	0	0	0	0	0	1	12315	871	31	1		1	PPFIBP1	12	27799072	Silent	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	16659847	27799072	106052823	44	27482											
EP400	57634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	132497632	132497632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr12:132497632C>T	ENST00000333577.4	+	18	3737	c.3628C>T	c.(3628-3630)Cga>Tga	p.R1210*	EP400_ENST00000330386.6_Nonsense_Mutation_p.R1174*|EP400_ENST00000389561.2_Nonsense_Mutation_p.R1174*|EP400_ENST00000389562.2_Nonsense_Mutation_p.R1173*|EP400_ENST00000332482.4_Nonsense_Mutation_p.R1137*			Q96L91	EP400_HUMAN	E1A binding protein p400	1210	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1173*(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGCCTTCACACGAGTGCGCTG	0.597																																																1	Substitution - Nonsense(1)	kidney(1)											103	77	86					12																	132497632		2203	4300	6503	SO:0001587	stop_gained	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3628C>T	12.37:g.132497632C>T	ENSP00000333602:p.Arg1210*		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	38	6.913674	0.97932	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	.	.	.	5.27	0.139	0.14798	.	0.285191	0.37136	N	0.002228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1216	0.42623	0.717:0.2009:0.0:0.0822	.	.	.	.	X	1210;1174;1173;1137;1174;1174;1174	.	ENSP00000330620:R1174X	R	+	1	2	EP400	131063585	1.000000	0.71417	0.000000	0.03702	0.058000	0.15608	3.830000	0.55768	-0.183000	0.10585	0.549000	0.68633	CGA		0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		T	132497632	C	T	132497632	4	4	508	1	0	0	0	0	0	1	0	0	5151	528	19	1	3579	1	EP400	12	132497632	Nonsense_Mutation	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	104698560	132497632	1354263	45	27483											
GPR180	160897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95257668	95257668	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr13:95257668A>G	ENST00000376958.4	+	2	194	c.169A>G	c.(169-171)Aga>Gga	p.R57G		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	57					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R57G(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TCTGTGTGTCAGAATCAACAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											147	129	135					13																	95257668		2203	4300	6503	SO:0001583	missense	160897			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"intimal thickness related receptor"	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.169A>G	13.37:g.95257668A>G	ENSP00000366157:p.Arg57Gly		A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179583	0.57800	.	.	ENSG00000152749	ENST00000376958	T	0.52526	0.66	5.75	3.24	0.37175	.	0.048646	0.85682	D	0.000000	T	0.42539	0.1207	M	0.62723	1.935	0.41256	D	0.986748	P	0.44734	0.842	B	0.36922	0.236	T	0.37150	-0.9718	10	0.45353	T	0.12	-17.5117	12.6855	0.56946	0.7395:0.2605:0.0:0.0	.	57	Q86V85	GP180_HUMAN	G	57	ENSP00000366157:R57G	ENSP00000366157:R57G	R	+	1	2	GPR180	94055669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.002000	0.57053	0.408000	0.25621	0.528000	0.53228	AGA		0.408	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		G	95257668	A	G	95257668	3	3	508	1	0	0	0	0	1	0	0	0	6678	180	7	3	175	3	GPR180	13	95257668	Missense_Mutation	SNP	A	TCGA-CJ-4882-01A-02D-1429-08		95257668	19912210	46	27484											
RBM23	55147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23378782	23378782	+	Missense_Mutation	SNP	A	A	G	rs200287080		TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr14:23378782A>G	ENST00000359890.3	-	3	284	c.89T>C	c.(88-90)gTt>gCt	p.V30A	RBM23_ENST00000555209.1_Intron|RBM23_ENST00000556984.1_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.V30A|RBM23_ENST00000346528.5_Missense_Mutation_p.V30A|RBM23_ENST00000542016.2_Intron	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	30					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V30A(1)		endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		ATCCTTTTTAACTTCTTTCCT	0.483																																																1	Substitution - Missense(1)	kidney(1)											353	343	346					14																	23378782		2090	4219	6309	SO:0001583	missense	55147			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"RNA binding motif (RRM) containing"	20155	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen recep- tors beta"		"RNA-binding region (RNP1, RRM) containing 4"	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.89T>C	14.37:g.23378782A>G	ENSP00000352956:p.Val30Ala		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	37	CCDS41921.1	.	.	.	.	.	.	.	.	.	.	A	2.861	-0.236172	0.05944	.	.	ENSG00000100461	ENST00000359890;ENST00000399922;ENST00000346528;ENST00000554256;ENST00000557549;ENST00000555676;ENST00000557571;ENST00000556862;ENST00000557464;ENST00000554618;ENST00000553876;ENST00000555691	T;T;T	0.79554	-1.28;3.9;3.91	5.28	2.94	0.34122	.	1.132430	0.06677	N	0.767377	T	0.60689	0.2288	N	0.08118	0	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.003;0.002;0.001	T	0.47289	-0.9129	10	0.09338	T	0.73	-3.8209	6.7375	0.23417	0.8169:0.0:0.1831:0.0	.	30;30;30;30	Q86U06-3;Q86U06-4;Q86U06-2;Q86U06	.;.;.;RBM23_HUMAN	A	30	ENSP00000352956:V30A;ENSP00000382806:V30A;ENSP00000339220:V30A	ENSP00000305783:V30A	V	-	2	0	RBM23	22448622	0.761000	0.28439	0.998000	0.56505	0.852000	0.48524	1.560000	0.36331	0.475000	0.27415	-0.250000	0.11733	GTT		0.483	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			G	23378782	A	G	23378782	3	3	508	1	0	0	0	0	1	0	0	0	13129	43	2	3	1278	3	RBM23	14	23378782	Missense_Mutation	SNP	A	TCGA-CJ-4882-01A-02D-1429-08		23378782	83970758	47	27485											
RYR3	6263	broad.mit.edu;ucsc.edu	37	15	34072416	34072416	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr15:34072416C>T	ENST00000389232.4	+	65	9212	c.9142C>T	c.(9142-9144)Cgc>Tgc	p.R3048C	RYR3_ENST00000415757.3_Missense_Mutation_p.R3048C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3048					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)	p.R3048C(1)		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)		TTCCAGGCAACGCCCTGCCCT	0.552																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	6263				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.9142C>T	15.37:g.34072416C>T	ENSP00000373884:p.Arg3048Cys		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642788	0.87859	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.90788	-2.73;-2.73	5.52	5.52	0.82312	.	0.164390	0.41823	D	0.000820	D	0.95153	0.8429	M	0.85542	2.76	0.58432	D	0.999994	D;D	0.89917	0.998;1.0	P;D	0.63488	0.731;0.915	D	0.95330	0.8429	10	0.87932	D	0	.	15.2699	0.73693	0.1406:0.8594:0.0:0.0	.	3048;3048	Q15413-2;Q15413	.;RYR3_HUMAN	C	3048	ENSP00000373884:R3048C;ENSP00000399610:R3048C	ENSP00000354735:R3048C	R	+	1	0	RYR3	31859708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.648000	0.61425	2.878000	0.98634	0.650000	0.86243	CGC		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34072416	C	T	34072416	3	4	508	1	0	0	0	0	1	0	0	0	13776	536	19	1	9400	1	RYR3	15	34072416	Missense_Mutation	SNP	C	TCGA-CJ-4882-01A-02D-1429-08		34072416	68458976	48	27486											
CGNL1	84952	broad.mit.edu	37	15	57732654	57732654	+	Missense_Mutation	SNP	A	A	G	rs371292908		TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr15:57732654A>G	ENST00000281282.5	+	3	1760	c.1682A>G	c.(1681-1683)aAt>aGt	p.N561S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	561						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.N561S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATTCTCTACAATTACCTCAAA	0.443																																																1	Substitution - Missense(1)	kidney(1)						A	SER/ASN	0,4384		0,0,2192	72	65	67		1682	4.8	1	15		67	1,8583	1.2+/-3.3	0,1,4291	no	missense	CGNL1	NM_032866.3	46	0,1,6483	GG,GA,AA		0.0116,0.0,0.0077	benign	561/1303	57732654	1,12967	2192	4292	6484	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1682A>G	15.37:g.57732654A>G	ENSP00000281282:p.Asn561Ser		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798058	0.31777	0.0	1.16E-4	ENSG00000128849	ENST00000281282	T	0.37584	1.19	4.81	4.81	0.61882	.	0.000000	0.51477	D	0.000089	T	0.30293	0.0760	L	0.41632	1.29	0.37198	D	0.904249	B	0.29988	0.264	B	0.26864	0.074	T	0.25847	-1.0120	10	0.36615	T	0.2	-30.5682	14.3915	0.66983	1.0:0.0:0.0:0.0	.	561	Q0VF96	CGNL1_HUMAN	S	561	ENSP00000281282:N561S	ENSP00000281282:N561S	N	+	2	0	CGNL1	55519946	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.111000	0.57838	1.791000	0.52520	0.460000	0.39030	AAT		0.443	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		G	57732654	A	G	57732654	3	3	508	1	0	0	0	0	1	0	0	0	3306	101	4	3	1688	3	CGNL1	15	57732654	Missense_Mutation	SNP	A	TCGA-CJ-4882-01A-02D-1429-08	23660238	57732654	44798738	49	27487											
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3988990	3988990	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:3988990G>C	ENST00000381638.2	-	16	2744	c.2620C>G	c.(2620-2622)Cga>Gga	p.R874G	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	874							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R874G(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGGTTCCGTCGGGTCTGTCGA	0.438																																																1	Substitution - Missense(1)	kidney(1)											145	124	131					17																	3988990		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2620C>G	17.37:g.3988990G>C	ENSP00000371051:p.Arg874Gly		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225170	0.79576	.	.	ENSG00000074755	ENST00000381638	T	0.36878	1.23	6.06	6.06	0.98353	.	0.154348	0.56097	D	0.000030	T	0.47710	0.1460	L	0.34521	1.04	0.54753	D	0.999983	D;D	0.65815	0.995;0.985	P;P	0.61722	0.893;0.689	T	0.40850	-0.9541	10	0.87932	D	0	-16.9564	16.2252	0.82286	0.0:0.0:0.8593:0.1407	.	874;874	O43149-3;O43149	.;ZZEF1_HUMAN	G	874	ENSP00000371051:R874G	ENSP00000371051:R874G	R	-	1	2	ZZEF1	3935739	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.598000	0.54038	2.882000	0.98803	0.655000	0.94253	CGA		0.438	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		C	3988990	G	C	3988990	3	2	508	1	0	0	0	0	1	0	0	0	18260	1124	39	4	6425	4	ZZEF1	17	3988990	Missense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08		3988990	77206220	50	27488											
MYH13	8735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10247205	10247205	+	Silent	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:10247205G>T	ENST00000418404.3	-	15	1969	c.1806C>A	c.(1804-1806)ccC>ccA	p.P602P	MYH13_ENST00000252172.4_Silent_p.P602P|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	602	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.P602P(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCGTTCAGGGGGTCCTTGT	0.537																																																2	Substitution - coding silent(2)	kidney(2)											83	80	81					17																	10247205		2203	4300	6503	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1806C>A	17.37:g.10247205G>T			O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.537	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10247205	G	T	10247205	2	4	508	1	0	0	0	0	0	0	0	1	10034	1219	43	4		4	MYH13	17	10247205	Silent	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	6258215	10247205	70948005	51	27489											
PGAP3	93210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37829071	37829071	+	Silent	SNP	C	C	T	rs560138585		TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:37829071C>T	ENST00000300658.4	-	8	1040	c.948G>A	c.(946-948)aaG>aaA	p.K316K	PGAP3_ENST00000579146.1_3'UTR|PGAP3_ENST00000429199.2_Silent_p.K295K|PGAP3_ENST00000378011.4_Silent_p.K265K	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	316					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)	p.K316K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CCAGCTTGAACTTGTCCTCTG	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20766	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											103	81	89					17																	37829071		2203	4300	6503	SO:0001819	synonymous_variant	93210			AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"post-GPI attachment to proteins 3"	611801	"per1-like domain containing 1"	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.948G>A	17.37:g.37829071C>T			B4DGK7|Q86Z03|Q8NBJ8	Silent	SNP	ENST00000300658.4	37	CCDS32641.1																																																																																				0.567	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		T	37829071	C	T	37829071	2	4	508	1	0	0	0	0	0	0	0	1	11781	564	20	2		2	PGAP3	17	37829071	Silent	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	27581866	37829071	43366139	52	27490											
WNK4	65266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40947998	40947998	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:40947998A>T	ENST00000246914.5	+	16	3399	c.3378A>T	c.(3376-3378)gaA>gaT	p.E1126D	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1126					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.E1114D(1)|p.E1126D(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGAGTCAGAAAGCAGTGGGG	0.587																																					Esophageal Squamous(6;201 374 4964 23855 42828)											2	Substitution - Missense(2)	kidney(2)											59	57	58					17																	40947998		2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3378A>T	17.37:g.40947998A>T	ENSP00000246914:p.Glu1126Asp		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576317	0.28092	.	.	ENSG00000126562	ENST00000246914	T	0.78003	-1.14	5.18	3.19	0.36642	.	0.000000	0.46758	D	0.000275	T	0.60958	0.2309	L	0.32530	0.975	0.80722	D	1	B;B	0.30563	0.285;0.029	B;B	0.30943	0.122;0.008	T	0.50145	-0.8862	10	0.26408	T	0.33	-15.8901	2.8315	0.05502	0.1595:0.1418:0.5527:0.146	.	1126;1126	Q96J92-3;Q96J92	.;WNK4_HUMAN	D	1126	ENSP00000246914:E1126D	ENSP00000246914:E1126D	E	+	3	2	WNK4	38201524	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	2.026000	0.41069	0.566000	0.29273	0.260000	0.18958	GAA		0.587	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			T	40947998	A	T	40947998	3	4	508	1	0	0	0	0	1	0	0	0	17385	11	1	5	3440	5	WNK4	17	40947998	Missense_Mutation	SNP	A	TCGA-CJ-4882-01A-02D-1429-08	3118927	40947998	40247212	53	27491											
MYST2	11143	broad.mit.edu	37	17	47899078	47899078	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:47899078G>C	ENST00000259021.4	+	11	1592	c.1312G>C	c.(1312-1314)Gtg>Ctg	p.V438L	KAT7_ENST00000503935.2_Missense_Mutation_p.V282L|KAT7_ENST00000510819.1_Missense_Mutation_p.V269L|KAT7_ENST00000454930.2_Missense_Mutation_p.V299L|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.V408L|KAT7_ENST00000435742.2_Missense_Mutation_p.V252L|KAT7_ENST00000509773.1_Missense_Mutation_p.V328L	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	438	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V438L(1)									ATATTATGATGTGGAGCCCTT	0.448																																																1	Substitution - Missense(1)	kidney(1)											111	104	106					17																	47899078		2203	4298	6501	SO:0001583	missense	0			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1312G>C	17.37:g.47899078G>C	ENSP00000259021:p.Val438Leu		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126759	0.94429	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.996;1.0;1.0;1.0	D;D;D;D;D;D	0.81914	0.993;0.972;0.988;0.995;0.995;0.988	D	0.87291	0.2299	9	0.87932	D	0	-12.7725	17.7601	0.88462	0.0:0.0:1.0:0.0	.	401;269;328;299;438;408	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	L	438;299;328;269;408;282;252	.	ENSP00000259021:V438L	V	+	1	0	KAT7	45254077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.511000	0.84671	0.563000	0.77884	GTG		0.448	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		C	47899078	G	C	47899078	3	2	508	1	0	0	0	0	1	0	0	0	10105	1377	48	4	1354	4	MYST2	17	47899078	Missense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	6951080	47899078	33296132	54	27492											
BRIP1	83990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	59853839	59853839	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:59853839C>A	ENST00000259008.2	-	14	2287	c.2020G>T	c.(2020-2022)Gat>Tat	p.D674Y	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.D674Y	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	674					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D674Y(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CCCACTTCATCTTGGAACTCA	0.423			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	2	Substitution - Missense(2)	kidney(2)											126	118	121					17																	59853839		2203	4300	6503	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2020G>T	17.37:g.59853839C>A	ENSP00000259008:p.Asp674Tyr		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816728	0.50633	.	.	ENSG00000136492	ENST00000259008	T	0.71817	-0.6	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89787	0.3965	9	.	.	.	-21.1761	18.5507	0.91063	0.0:1.0:0.0:0.0	.	674;674	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	Y	674	ENSP00000259008:D674Y	.	D	-	1	0	BRIP1	57208621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.002000	0.76304	2.623000	0.88846	0.655000	0.94253	GAT		0.423	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		A	59853839	C	A	59853839	3	1	508	1	0	0	0	0	1	0	0	0	1516	913	32	4	1757	4	BRIP1	17	59853839	Missense_Mutation	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	11954761	59853839	21341371	55	27493											
DCAF7	10238	broad.mit.edu	37	17	61628100	61628100	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:61628100C>T	ENST00000310827.4	+	1	279	c.62C>T	c.(61-63)gCg>gTg	p.A21V	DCAF7_ENST00000415273.2_Missense_Mutation_p.A21V|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Missense_Mutation_p.A21V	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	21					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.A21V(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						ACAGTCTACGCGATGAACTGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											64	70	68					17																	61628100		2000	4162	6162	SO:0001583	missense	10238			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30915	protein-coding gene	gene with protein product	"seven-WD-repeat protein of the AN11 family-1", "human anthocyanin"	605973	"WD repeat domain 68"	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.62C>T	17.37:g.61628100C>T	ENSP00000308344:p.Ala21Val		B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37		.	.	.	.	.	.	.	.	.	.	C	36	5.945832	0.97134	.	.	ENSG00000136485	ENST00000310827;ENST00000431926;ENST00000415273	T;T;T	0.66460	-0.21;-0.16;1.47	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.88450	2.955	0.80722	D	1	D;P	0.53312	0.959;0.927	P;B	0.45971	0.499;0.382	D	0.83462	0.0054	10	0.87932	D	0	-25.5848	19.6415	0.95760	0.0:1.0:0.0:0.0	.	21;21	B4E039;P61962	.;DCAF7_HUMAN	V	21	ENSP00000308344:A21V;ENSP00000402312:A21V;ENSP00000403920:A21V	ENSP00000308344:A21V	A	+	2	0	DCAF7	58981832	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.214000	0.77958	2.651000	0.90000	0.561000	0.74099	GCG		0.627	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828		T	61628100	C	T	61628100	3	4	508	1	0	0	0	0	1	0	0	0	4277	768	27	1	64	1	DCAF7	17	61628100	Missense_Mutation	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	1774261	61628100	19567110	56	27494											
SOCS3	9021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76354730	76354730	+	Silent	SNP	C	C	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:76354730C>T	ENST00000330871.2	-	2	862	c.447G>A	c.(445-447)gaG>gaA	p.E149E	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	149					branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)	p.E149E(1)		kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CAGACGGCTGCTCGGGCACCT	0.662																																																1	Substitution - coding silent(1)	kidney(1)											16	20	18					17																	76354730		2195	4280	6475	SO:0001819	synonymous_variant	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.447G>A	17.37:g.76354730C>T			O14509	Silent	SNP	ENST00000330871.2	37	CCDS11756.1																																																																																				0.662	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			T	76354730	C	T	76354730	2	4	508	1	0	0	0	0	0	0	0	1	14921	796	28	2		2	SOCS3	17	76354730	Silent	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	14726630	76354730	4840480	57	27495											
FOXK2	3607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80477948	80477948	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr17:80477948C>A	ENST00000335255.5	+	1	358	c.184C>A	c.(184-186)Cag>Aag	p.Q62K		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	62	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q62K(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CAACTCGTCGCAGGGCTCGGT	0.731																																																1	Substitution - Missense(1)	kidney(1)											30	35	33					17																	80477948		2183	4270	6453	SO:0001583	missense	3607			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"Forkhead boxes"	6036	protein-coding gene	gene with protein product		147685	"interleukin enhancer binding factor 1"	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.184C>A	17.37:g.80477948C>A	ENSP00000335677:p.Gln62Lys		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	CCDS11813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.78|13.78	2.340255|2.340255	0.41398|0.41398	.|.	.|.	ENSG00000141568|ENSG00000141568	ENST00000535184|ENST00000335255;ENST00000335241	.|D	.|0.92752	.|-3.1	3.62|3.62	3.62|3.62	0.41486|0.41486	.|Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	.|0.000000	.|0.64402	.|U	.|0.000004	D|D	0.86410|0.86410	0.5926|0.5926	L|L	0.33245|0.33245	0.995|0.995	0.52099|0.52099	D|D	0.999947|0.999947	.|B;B;B	.|0.32968	.|0.178;0.392;0.104	.|B;B;B	.|0.33960	.|0.108;0.173;0.155	D|D	0.83394|0.83394	0.0019|0.0019	6|10	0.72032|0.12103	D|T	0.01|0.63	.|.	15.5487|15.5487	0.76129|0.76129	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|62;62;62	.|Q01167-3;Q01167;Q01167-2	.|.;FOXK2_HUMAN;.	E|K	58|62	.|ENSP00000335677:Q62K	ENSP00000443080:A58E|ENSP00000334321:Q62K	A|Q	+|+	2|1	0|0	FOXK2|FOXK2	78071237|78071237	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.023000|0.023000	0.10783|0.10783	5.450000|5.450000	0.66626|0.66626	1.893000|1.893000	0.54813|0.54813	0.536000|0.536000	0.68110|0.68110	GCA|CAG		0.731	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		A	80477948	C	A	80477948	3	1	508	1	0	0	0	0	1	0	0	0	6017	711	25	4	186	4	FOXK2	17	80477948	Missense_Mutation	SNP	C	TCGA-CJ-4882-01A-02D-1429-08	4123218	80477948	717262	58	27496											
PCSK4	54760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1482902	1482902	+	Silent	SNP	G	G	A	rs143738061	byFrequency	TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:1482902G>A	ENST00000300954.5	-	13	1750	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4									p.F563F(1)		cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCGTGTTGAAATAGTAGC	0.617																																																1	Substitution - coding silent(1)	kidney(1)											47	46	47					19																	1482902		2202	4299	6501	SO:0001819	synonymous_variant	54760			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1689C>T	19.37:g.1482902G>A				Silent	SNP	ENST00000300954.5	37	CCDS12069.2																																																																																				0.617	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		A	1482902	G	A	1482902	2	1	508	1	0	0	0	0	0	0	0	1	11604	1281	45	2		2	PCSK4	19	1482902	Silent	SNP	G	TCGA-CJ-4882-01A-02D-1429-08		1482902	57646081	59	27497											
OR7G2	390882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9213720	9213720	+	Missense_Mutation	SNP	G	G	C	rs187723452	byFrequency	TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:9213720G>C	ENST00000305456.2	-	1	262	c.263C>G	c.(262-264)tCc>tGc	p.S88C		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S88C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GTCCAAAAAGGAGAGATTGGA	0.507																																					Esophageal Squamous(67;143 1448 28637 40648)											1	Substitution - Missense(1)	kidney(1)											132	125	127					19																	9213720		2203	4300	6503	SO:0001583	missense	390882				CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"GPCR / Class A : Olfactory receptors"	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.263C>G	19.37:g.9213720G>C	ENSP00000303822:p.Ser88Cys		Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	g	9.114	1.007338	0.19199	.	.	ENSG00000170923	ENST00000305456	T	0.12361	2.69	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35903	U	0.002911	T	0.48554	0.1506	H	0.95504	3.68	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52873	-0.8517	10	0.87932	D	0	.	14.4843	0.67606	0.0:0.0:1.0:0.0	.	67	Q8NG99	OR7G2_HUMAN	C	88	ENSP00000303822:S88C	ENSP00000303822:S88C	S	-	2	0	OR7G2	9074720	0.001000	0.12720	0.073000	0.20177	0.009000	0.06853	0.990000	0.29642	2.185000	0.69588	0.552000	0.68991	TCC		0.507	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			C	9213720	G	C	9213720	3	2	508	1	0	0	0	0	1	0	0	0	11225	1174	41	4	776	4	OR7G2	19	9213720	Missense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	7730818	9213720	49915263	60	27498											
DAND5	199699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	13080675	13080675	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:13080675G>C	ENST00000317060.2	+	1	380	c.201G>C	c.(199-201)caG>caC	p.Q67H	DAND5_ENST00000585548.1_Missense_Mutation_p.Q97H	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	67					atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)	p.Q67H(1)		kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			TGGGCCTGCAGAAAGCCAGGC	0.662																																																1	Substitution - Missense(1)	kidney(1)											58	59	59					19																	13080675		2203	4300	6503	SO:0001583	missense	199699			AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"DAN domain family, member 5"			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.201G>C	19.37:g.13080675G>C	ENSP00000323155:p.Gln67His			Missense_Mutation	SNP	ENST00000317060.2	37	CCDS12291.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152512	0.78001	.	.	ENSG00000179284	ENST00000317060	T	0.35605	1.3	4.24	-3.02	0.05446	.	0.000000	0.43416	D	0.000562	T	0.17619	0.0423	L	0.34521	1.04	0.23293	N	0.997968	P	0.36010	0.532	B	0.29267	0.1	T	0.10636	-1.0621	10	0.44086	T	0.13	-9.3451	5.3404	0.15981	0.415:0.1483:0.4367:0.0	.	67	Q8N907	DAND5_HUMAN	H	67	ENSP00000323155:Q67H	ENSP00000323155:Q67H	Q	+	3	2	DAND5	12941675	0.474000	0.25886	0.581000	0.28614	0.880000	0.50808	0.139000	0.16036	-0.318000	0.08665	0.462000	0.41574	CAG		0.662	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452761.1	NM_152654		C	13080675	G	C	13080675	3	2	508	1	0	0	0	0	1	0	0	0	4232	933	33	4	203	4	DAND5	19	13080675	Missense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	3866955	13080675	46048308	61	27499											
UPF1	5976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18974988	18974988	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:18974988T>C	ENST00000599848.1	+	20	3027	c.2818T>C	c.(2818-2820)Ttc>Ctc	p.F940L	UPF1_ENST00000262803.5_Missense_Mutation_p.F929L			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	940					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.F929L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GGGAGCCCGCTTCATGACCAC	0.602																																																1	Substitution - Missense(1)	kidney(1)											98	99	99					19																	18974988		2203	4300	6503	SO:0001583	missense	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2818T>C	19.37:g.18974988T>C	ENSP00000470142:p.Phe940Leu		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	T	17.70	3.454083	0.63290	.	.	ENSG00000005007	ENST00000262803	D	0.89270	-2.49	4.56	4.56	0.56223	.	0.118276	0.64402	D	0.000009	D	0.83454	0.5258	L	0.35854	1.095	0.80722	D	1	B;B	0.18741	0.004;0.03	B;B	0.17979	0.005;0.02	T	0.79732	-0.1680	10	0.40728	T	0.16	-40.9027	12.7492	0.57298	0.0:0.0:0.0:1.0	.	940;929	Q92900;Q92900-2	RENT1_HUMAN;.	L	929	ENSP00000262803:F929L	ENSP00000262803:F929L	F	+	1	0	UPF1	18835988	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.651000	0.83577	1.695000	0.51148	0.533000	0.62120	TTC		0.602	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		C	18974988	T	C	18974988	3	2	508	1	0	0	0	0	1	0	0	0	17008	1609	56	3	2863	3	UPF1	19	18974988	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	5894313	18974988	40153995	62	27500											
PEPD	5184	broad.mit.edu	37	19	33882246	33882246	+	Silent	SNP	G	G	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:33882246G>A	ENST00000244137.7	-	13	1140	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G	PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000436370.3_Silent_p.G305G|PEPD_ENST00000397032.4_Silent_p.G328G	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	369					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.G369G(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCAGGAAGTGGCCAAGCCCGT	0.662																																																1	Substitution - coding silent(1)	kidney(1)											26	32	30					19																	33882246		2115	4235	6350	SO:0001819	synonymous_variant	5184			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1107C>T	19.37:g.33882246G>A			A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Silent	SNP	ENST00000244137.7	37	CCDS42544.1																																																																																				0.662	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		A	33882246	G	A	33882246	2	1	508	1	0	0	0	0	0	0	0	1	11730	1190	42	2		2	PEPD	19	33882246	Silent	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	14907258	33882246	25246737	63	27501											
GEMIN7	79760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45593483	45593483	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr19:45593483G>T	ENST00000270257.4	+	3	358	c.111G>T	c.(109-111)gaG>gaT	p.E37D	CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.E37D|CTB-179K24.3_ENST00000586744.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000591747.1_Missense_Mutation_p.E37D|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000391951.2_Missense_Mutation_p.E37D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	37					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.E37D(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TGAGGCCAGAGGTTCCTGAAA	0.647																																																1	Substitution - Missense(1)	kidney(1)											53	55	54					19																	45593483		2203	4300	6503	SO:0001583	missense	79760			AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.111G>T	19.37:g.45593483G>T	ENSP00000270257:p.Glu37Asp		Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361730	0.24684	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	4.64	-7.61	0.01299	.	0.619653	0.15546	N	0.256674	T	0.30324	0.0761	L	0.51422	1.61	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18935	-1.0321	9	0.27785	T	0.31	-22.4609	7.3615	0.26750	0.2684:0.4449:0.2867:0.0	.	37	Q9H840	GEMI7_HUMAN	D	37	.	ENSP00000270257:E37D	E	+	3	2	GEMIN7	50285323	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.610000	0.02064	-0.765000	0.04645	-0.314000	0.08810	GAG		0.647	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			T	45593483	G	T	45593483	3	4	508	1	0	0	0	0	1	0	0	0	6335	991	35	4	113	4	GEMIN7	19	45593483	Missense_Mutation	SNP	G	TCGA-CJ-4882-01A-02D-1429-08	11711237	45593483	13535500	64	27502											
DGCR6L	85359	broad.mit.edu	37	22	20307319	20307319	+	Silent	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr22:20307319A>G	ENST00000248879.3	-	2	205	c.114T>C	c.(112-114)tcT>tcC	p.S38S	XXbac-B444P24.13_ENST00000608275.1_RNA|DGCR6L_ENST00000405465.3_Intron|XXbac-B444P24.14_ENST00000609632.1_lincRNA	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	38						nucleus (GO:0005634)		p.S38S(1)		endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					GCTGCTGGAAAGAGCTGCGGG	0.697																																																1	Substitution - coding silent(1)	kidney(1)											22	22	22					22																	20307319		2201	4300	6501	SO:0001819	synonymous_variant	85359			AF228708	CCDS13778.1	22q11.21	2013-02-19			ENSG00000128185	ENSG00000128185			18551	protein-coding gene	gene with protein product		609459				11157784	Standard	NM_033257		Approved	FLJ10666	uc002zrx.3	Q9BY27	OTTHUMG00000150583	ENST00000248879.3:c.114T>C	22.37:g.20307319A>G			A8K1N7|B3KMC0|D3DX29|Q9BW33	Silent	SNP	ENST00000248879.3	37	CCDS13778.1																																																																																				0.697	DGCR6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318970.3	NM_033257		G	20307319	A	G	20307319	2	3	508	1	0	0	0	0	0	0	0	1	4465	59	3	3		3	DGCR6L	22	20307319	Silent	SNP	A	TCGA-CJ-4882-01A-02D-1429-08		20307319	30997247	65	27503											
HPS4	89781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	26860453	26860453	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr22:26860453T>G	ENST00000398145.2	-	11	1759	c.1143A>C	c.(1141-1143)gaA>gaC	p.E381D	HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Missense_Mutation_p.E381D|HPS4_ENST00000402105.3_Missense_Mutation_p.E376D|HPS4_ENST00000398141.1_Missense_Mutation_p.E394D	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	381					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.E394D(1)|p.E381D(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CTGAGGCCATTTCCACTTCCT	0.537									Hermansky-Pudlak syndrome																																							2	Substitution - Missense(2)	kidney(2)											77	72	74					22																	26860453		2203	4300	6503	SO:0001583	missense	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1143A>C	22.37:g.26860453T>G	ENSP00000381213:p.Glu381Asp		B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	T	1.439	-0.568038	0.03910	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;T;T;T;T	0.59638	1.31;1.3;1.31;1.31;0.25	3.91	-0.986	0.10252	.	1.148870	0.06506	N	0.737127	T	0.36908	0.0984	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.002;0.002;0.002;0.003;0.001;0.002	T	0.14392	-1.0474	10	0.15499	T	0.54	0.4447	4.5231	0.11969	0.0:0.2149:0.3233:0.4618	.	381;381;381;381;394;376	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	D	381;394;376;381;399;399	ENSP00000381213:E381D;ENSP00000381210:E394D;ENSP00000384185:E376D;ENSP00000338457:E381D;ENSP00000415081:E399D	ENSP00000325840:E399D	E	-	3	2	HPS4	25190453	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.430000	0.06973	-0.478000	0.06823	-2.941000	0.00086	GAA		0.537	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		G	26860453	T	G	26860453	3	3	508	1	0	0	0	0	1	0	0	0	7343	1838	64	5	999	5	HPS4	22	26860453	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08	6553134	26860453	24444113	66	27504											
SUN2	25777	broad.mit.edu;hgsc.bcm.edu	37	22	39146323	39146323	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chr22:39146323A>G	ENST00000405510.1	-	6	785	c.427T>C	c.(427-429)Tac>Cac	p.Y143H	SUN2_ENST00000405018.1_Missense_Mutation_p.Y164H|SUN2_ENST00000216064.4_Missense_Mutation_p.Y143H|SUN2_ENST00000406622.1_Missense_Mutation_p.Y143H|SUN2_ENST00000411587.2_Missense_Mutation_p.Y132H|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	143	Ser-rich.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)	p.Y143H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						ACATCCGAGTAGCCTGCGGGG	0.612																																																1	Substitution - Missense(1)	kidney(1)											50	46	48					22																	39146323		2203	4300	6503	SO:0001583	missense	25777			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.427T>C	22.37:g.39146323A>G	ENSP00000385740:p.Tyr143His		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.185973	0.78789	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058;ENST00000456894;ENST00000420859	T;T;T;T;T;T;T;T	0.33438	2.71;2.71;2.54;2.71;2.65;1.41;1.49;1.45	5.09	2.85	0.33270	.	0.492460	0.19609	N	0.110189	T	0.13415	0.0325	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.19200	0.003;0.034;0.034;0.016;0.012	B;B;B;B;B	0.14023	0.005;0.01;0.01;0.003;0.006	T	0.10405	-1.0631	10	0.25106	T	0.35	-20.6093	3.9667	0.09434	0.6809:0.0:0.1474:0.1716	.	132;178;143;164;143	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	H	143;143;164;143;132;97;143;97	ENSP00000385740:Y143H;ENSP00000216064:Y143H;ENSP00000385616:Y164H;ENSP00000383992:Y143H;ENSP00000395601:Y132H;ENSP00000406941:Y97H;ENSP00000415588:Y143H;ENSP00000408834:Y97H	ENSP00000216064:Y143H	Y	-	1	0	SUN2	37476269	0.746000	0.28272	0.760000	0.31359	0.640000	0.38277	1.840000	0.39230	2.032000	0.59987	0.528000	0.53228	TAC		0.612	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		G	39146323	A	G	39146323	3	3	508	1	0	0	0	0	1	0	0	0	15397	420	15	3	1782	3	SUN2	22	39146323	Missense_Mutation	SNP	A	TCGA-CJ-4882-01A-02D-1429-08	12285870	39146323	12158243	67	27505											
LHFPL1	340596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	111914248	111914248	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4882-01A-02D-1429-08	TCGA-CJ-4882-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1b7b8e8-cc87-4a52-900a-1f3ef7d449d7	d6c446c7-0ee8-434c-944f-e75d557ec181	g.chrX:111914248T>A	ENST00000371968.3	-	2	610	c.371A>T	c.(370-372)cAg>cTg	p.Q124L	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.Q124L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	124						integral component of membrane (GO:0016021)		p.Q124L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						TCCAACAAACTGCGCTGCTCC	0.572																																																1	Substitution - Missense(1)	kidney(1)											84	63	70					X																	111914248		2203	4300	6503	SO:0001583	missense	340596			AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.371A>T	X.37:g.111914248T>A	ENSP00000361036:p.Gln124Leu		A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409288	0.25378	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.78003	-1.14;-1.14	5.09	5.09	0.68999	.	0.054545	0.85682	D	0.000000	T	0.79992	0.4542	M	0.87758	2.905	0.80722	D	1	B;P	0.37914	0.299;0.611	B;B	0.37267	0.158;0.245	T	0.82841	-0.0258	10	0.66056	D	0.02	-22.9254	11.7025	0.51579	0.0:0.0:0.0:1.0	.	124;124	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	L	124	ENSP00000361036:Q124L;ENSP00000444573:Q124L	ENSP00000361036:Q124L	Q	-	2	0	LHFPL1	111800904	1.000000	0.71417	0.574000	0.28523	0.336000	0.28762	7.525000	0.81892	1.891000	0.54761	0.486000	0.48141	CAG		0.572	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		A	111914248	T	A	111914248	3	1	508	1	0	0	0	0	1	0	0	0	8766	1580	55	5	303	5	LHFPL1	23	111914248	Missense_Mutation	SNP	T	TCGA-CJ-4882-01A-02D-1429-08		111914248	43356312	68	27506											
VHL	7428	hgsc.bcm.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-CJ-4884-01A-01W-1369-10	TCGA-CJ-4884-11A-01W-1369-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	64701b1f-b461-4def-9cab-f77ab43950e6	df5f0ae2-fd74-482a-b48e-40d0a838f438	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7	11	9					3																	10183725		2133	4211	6344	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>A	3.37:g.10183725C>A	ENSP00000256474:p.Ser65*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576281	0.86645	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.54	4.67	0.58626	.	0.055860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	rs5030826	.	.	.	X	65	.	ENSP00000256474:S65X	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183725	C	A	10183725	4	1	509	1	0	0	0	0	0	1	0	0	17167	893	31	4	196	4	VHL	3	10183725	Nonsense_Mutation	SNP	C	TCGA-CJ-4884-01A-01W-1369-10		10183725	187838705	1	27507											
VHL	7428	hgsc.bcm.edu	37	3	10183770	10183770	+	Missense_Mutation	SNP	G	G	T	rs5030805		TCGA-CJ-4885-01A-01W-1369-10	TCGA-CJ-4885-11A-01W-1369-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	ffde052b-5af0-4230-8637-930f54069756	6b355345-b783-4720-be0f-715c24dd99b4	g.chr3:10183770G>T	ENST00000256474.2	+	1	1079	c.239G>T	c.(238-240)aGt>aTt	p.S80I	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.S80I	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	80			S -> I (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|S -> N (in pheochromocytoma and VHLD; type I; dbSNP:rs5030805). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S80N(4)|p.S72_V87>L(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.S80_P81>T(1)|p.V74fs*77(1)|p.R79_P81>P(1)|p.N78fs*50(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCAATCGCAGTCCGCGCGTC	0.711		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Substitution - Missense(4)|Deletion - Frameshift(4)|Complex - deletion inframe(3)	kidney(11)	GRCh37	CD951872|CM951273|CM961418	VHL	D|M	rs5030805						12	15	14					3																	10183770		2174	4236	6410	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.239G>T	3.37:g.10183770G>T	ENSP00000256474:p.Ser80Ile		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048310	0.93740	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99784	-6.74;-6.74	5.43	4.54	0.55810	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.129383	0.64402	D	0.000001	D	0.99625	0.9863	M	0.73217	2.22	0.31537	N	0.660404	D;D	0.76494	0.99;0.999	D;D	0.70227	0.925;0.968	D	0.97063	0.9772	10	0.72032	D	0.01	-7.6498	13.4554	0.61195	0.0:0.1963:0.8037:0.0	rs5030805	80;80	P40337-2;P40337	.;VHL_HUMAN	I	80	ENSP00000256474:S80I;ENSP00000344757:S80I	ENSP00000256474:S80I	S	+	2	0	VHL	10158770	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.264000	0.43302	2.558000	0.86282	0.550000	0.68814	AGT		0.711	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183770	G	T	10183770	3	4	510	1	0	0	0	0	1	0	0	0	17167	1029	36	4	241	4	VHL	3	10183770	Missense_Mutation	SNP	G	TCGA-CJ-4885-01A-01W-1369-10		10183770	187838660	1	27508											
PLEKHA6	22874	hgsc.bcm.edu;ucsc.edu	37	1	204218082	204218082	+	Missense_Mutation	SNP	G	G	T	rs148948923	byFrequency	TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr1:204218082G>T	ENST00000272203.3	-	12	2007	c.1691C>A	c.(1690-1692)gCc>gAc	p.A564D	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A584D	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	564										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCCCATCAAGGCACTTTCCAG	0.557																																																0													45	45	45					1																	204218082		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1691C>A	1.37:g.204218082G>T	ENSP00000272203:p.Ala564Asp		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684386	0.68157	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.81415	-1.49;-1.49	4.84	4.84	0.62591	.	0.118661	0.56097	D	0.000030	D	0.87430	0.6175	M	0.63843	1.955	0.41349	D	0.987352	D	0.71674	0.998	D	0.63381	0.914	D	0.89316	0.3636	10	0.87932	D	0	-24.8014	17.5649	0.87917	0.0:0.0:1.0:0.0	.	564	Q9Y2H5	PKHA6_HUMAN	D	564;584	ENSP00000272203:A564D;ENSP00000402046:A584D	ENSP00000272203:A564D	A	-	2	0	PLEKHA6	202484705	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.698000	0.61789	2.245000	0.73994	0.650000	0.86243	GCC		0.557	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		T	204218082	G	T	204218082	3	4	511	1	0	0	0	0	1	0	0	0	12062	1203	42	4	1499	4	PLEKHA6	1	204218082	Missense_Mutation	SNP	G	TCGA-CJ-4886-01A-01D-1373-10		204218082	45032539	1	27509											
SRBD1	55133	hgsc.bcm.edu;ucsc.edu	37	2	45774690	45774690	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr2:45774690C>G	ENST00000263736.4	-	13	1799	c.1737G>C	c.(1735-1737)gaG>gaC	p.E579D	SRBD1_ENST00000535761.1_Missense_Mutation_p.E98D	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	579					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTTTATTTTCTCCGCCTCTC	0.343																																																0													65	64	64					2																	45774690		2202	4299	6501	SO:0001583	missense	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1737G>C	2.37:g.45774690C>G	ENSP00000263736:p.Glu579Asp		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339968	0.24339	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.43294	0.95;0.95	5.24	5.24	0.73138	YqgF/RNase H-like domain (2);	0.243587	0.41712	D	0.000827	T	0.30103	0.0754	N	0.25426	0.745	0.27864	N	0.940284	B	0.18610	0.029	B	0.12837	0.008	T	0.11179	-1.0598	10	0.32370	T	0.25	.	12.5405	0.56167	0.0:0.9233:0.0:0.0767	.	579	Q8N5C6	SRBD1_HUMAN	D	579;98	ENSP00000263736:E579D;ENSP00000441272:E98D	ENSP00000263736:E579D	E	-	3	2	SRBD1	45628194	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.580000	0.36547	2.586000	0.87340	0.655000	0.94253	GAG		0.343	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		G	45774690	C	G	45774690	3	3	511	1	0	0	0	0	1	0	0	0	15138	912	32	4	1286	4	SRBD1	2	45774690	Missense_Mutation	SNP	C	TCGA-CJ-4886-01A-01D-1373-10		45774690	197424683	2	27510											
FER1L5	90342	hgsc.bcm.edu;ucsc.edu	37	2	97335947	97335947	+	RNA	SNP	C	C	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr2:97335947C>A	ENST00000457909.1	+	0	0							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAAGACTCCACGATAAAGGAT	0.493																																																0													133	106	114					2																	97335947		692	1591	2283			90342			BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"fer-1-like 5 (C. elegans)"				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97335947C>A			Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37		.	.	.	.	.	.	.	.	.	.	C	1.495	-0.553647	0.03996	.	.	ENSG00000214272	ENST00000414152;ENST00000436930	.	.	.	4.57	-9.13	0.00704	.	.	.	.	.	T	0.03959	0.0111	N	0.00648	-1.295	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.10497	-1.0627	7	0.02654	T	1	.	2.3187	0.04205	0.4317:0.2939:0.1136:0.1608	.	480	A0AVI2	FR1L5_HUMAN	K	480;473	.	ENSP00000444148:T480K	T	+	2	0	FER1L5	96699674	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.813000	0.00753	-3.285000	0.00196	-0.171000	0.13296	ACG		0.493	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		A	97335947	C	A	97335947	1	1	511	0	1	0	0	0	0	0	0	0	5816	536	19	4		4	FER1L5	2	97335947	RNA	SNP	C	TCGA-CJ-4886-01A-01D-1373-10	51561257	97335947	145863426	3	27511											
CXCR7	57007	hgsc.bcm.edu	37	2	237489859	237489859	+	Missense_Mutation	SNP	C	C	T	rs201845893		TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr2:237489859C>T	ENST00000272928.3	+	2	1061	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	251					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										GCACAGCAGCCGGAAGATCAT	0.572																																																0													119	100	106					2																	237489859		2203	4300	6503	SO:0001583	missense	57007			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.751C>T	2.37:g.237489859C>T	ENSP00000272928:p.Arg251Trp		A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536011	0.64972	.	.	ENSG00000144476	ENST00000272928	T	0.72051	-0.62	5.8	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.121195	0.56097	D	0.000028	T	0.81564	0.4849	M	0.83223	2.63	0.45554	D	0.998509	D	0.71674	0.998	P	0.60886	0.88	T	0.82934	-0.0211	9	.	.	.	.	10.3092	0.43699	0.1203:0.6109:0.2688:0.0	.	251	P25106	CXCR7_HUMAN	W	251	ENSP00000272928:R251W	.	R	+	1	2	CXCR7	237154598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.242000	0.51384	1.407000	0.46875	0.655000	0.94253	CGG		0.572	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		T	237489859	C	T	237489859	3	4	511	1	0	0	0	0	1	0	0	0	4098	643	23	1	753	1	CXCR7	2	237489859	Missense_Mutation	SNP	C	TCGA-CJ-4886-01A-01D-1373-10	140153912	237489859	5709514	4	27512											
PIK3CA	5290	hgsc.bcm.edu;ucsc.edu	37	3	178952077	178952077	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr3:178952077T>A	ENST00000263967.3	+	21	3289	c.3132T>A	c.(3130-3132)aaT>aaA	p.N1044K	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1044	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N1044K(14)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AACAAATGAATGATGCACATC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	14	Substitution - Missense(14)	endometrium(7)|breast(3)|kidney(2)|ovary(1)|large_intestine(1)											99	89	92					3																	178952077		1910	4124	6034	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3132T>A	3.37:g.178952077T>A	ENSP00000263967:p.Asn1044Lys		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023845	0.54683	.	.	ENSG00000121879	ENST00000263967	T	0.81078	-1.45	6.08	3.62	0.41486	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	N	0.17723	0.515	0.80722	D	1	D	0.54207	0.965	P	0.50082	0.63	T	0.67444	-0.5669	10	0.22706	T	0.39	-24.648	11.0342	0.47791	0.0:0.1289:0.0:0.8711	.	1044	P42336	PK3CA_HUMAN	K	1044	ENSP00000263967:N1044K	ENSP00000263967:N1044K	N	+	3	2	PIK3CA	180434771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.521000	0.35910	1.088000	0.41272	0.482000	0.46254	AAT		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178952077	T	A	178952077	3	1	511	1	0	0	0	0	1	0	0	0	11915	1461	51	5	3210	5	PIK3CA	3	178952077	Missense_Mutation	SNP	T	TCGA-CJ-4886-01A-01D-1373-10		178952077	19070353	5	27513											
CCM2	83605	hgsc.bcm.edu	37	7	45113122	45113122	+	Missense_Mutation	SNP	C	C	A	rs371880014		TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr7:45113122C>A	ENST00000258781.6	+	8	1016	c.867C>A	c.(865-867)agC>agA	p.S289R	CCM2_ENST00000544363.1_Missense_Mutation_p.S198R|CCM2_ENST00000475551.1_Missense_Mutation_p.S283R|CCM2_ENST00000474617.1_Missense_Mutation_p.S192R|CCM2_ENST00000381112.3_Missense_Mutation_p.S310R|CCM2_ENST00000541586.1_Missense_Mutation_p.S231R|CCM2_ENST00000461377.1_3'UTR	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	289	Harmonin homology domain.		S -> N (in dbSNP:rs2289366).		blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGTGAGAGCGAGCTGAGCG	0.627																																																0													98	74	82					7																	45113122		2203	4300	6503	SO:0001583	missense	83605			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.867C>A	7.37:g.45113122C>A	ENSP00000258781:p.Ser289Arg		A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273202	0.59649	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.55	-10.1	0.00402	.	0.046850	0.85682	D	0.000000	T	0.55940	0.1952	M	0.79475	2.455	0.34190	D	0.671981	D;D;D;D	0.76494	0.996;0.999;0.969;0.992	D;D;P;P	0.69479	0.935;0.964;0.713;0.864	T	0.78375	-0.2228	10	0.49607	T	0.09	-27.8143	17.7759	0.88508	0.0:0.3427:0.0:0.6573	.	310;198;231;289	E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;CCM2_HUMAN	R	289;231;198;283;310;192	ENSP00000258781:S289R;ENSP00000444725:S231R;ENSP00000438035:S198R;ENSP00000417180:S283R;ENSP00000370503:S310R;ENSP00000419474:S192R	ENSP00000258781:S289R	S	+	3	2	CCM2	45079647	0.000000	0.05858	0.252000	0.24328	0.815000	0.46073	-3.026000	0.00640	-2.148000	0.00798	-1.053000	0.02334	AGC		0.627	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		A	45113122	C	A	45113122	3	1	511	1	0	0	0	0	1	0	0	0	2910	767	27	4	994	4	CCM2	7	45113122	Missense_Mutation	SNP	C	TCGA-CJ-4886-01A-01D-1373-10		45113122	114025541	6	27514											
TMEM71	137835	hgsc.bcm.edu	37	8	133740199	133740199	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr8:133740199T>G	ENST00000356838.3	-	6	606	c.464A>C	c.(463-465)gAc>gCc	p.D155A	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.D174A	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	174						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGACTCCCAGTCATCAGTCAG	0.483																																																0													94	90	91					8																	133740199		2203	4300	6503	SO:0001583	missense	137835			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.464A>C	8.37:g.133740199T>G	ENSP00000349296:p.Asp155Ala		Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	CCDS6366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.44|11.44	1.639598|1.639598	0.29157|0.29157	.|.	.|.	ENSG00000165071|ENSG00000165071	ENST00000523829;ENST00000356838|ENST00000522780	.|.	.|.	.|.	5.91|5.91	-4.72|-4.72	0.03269|0.03269	.|.	1.013100|.	0.07887|.	N|.	0.970496|.	T|T	0.25232|0.25232	0.0613|0.0613	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.20052|.	0.041;0.041|.	B;B|.	0.14578|.	0.011;0.011|.	T|T	0.35847|0.35847	-0.9772|-0.9772	9|5	0.09590|.	T|.	0.72|.	-0.0899|-0.0899	7.3291|7.3291	0.26571|0.26571	0.0:0.2319:0.4865:0.2816|0.0:0.2319:0.4865:0.2816	.|.	174;155|.	Q6P5X7;Q6P5X7-2|.	TMM71_HUMAN;.|.	A|P	174;155|12	.|.	ENSP00000349296:D155A|.	D|T	-|-	2|1	0|0	TMEM71|TMEM71	133809381|133809381	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.040000|0.040000	0.13550|0.13550	0.018000|0.018000	0.13422|0.13422	-0.307000|-0.307000	0.08804|0.08804	-1.148000|-1.148000	0.01847|0.01847	GAC|ACT		0.483	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		G	133740199	T	G	133740199	3	3	511	1	0	0	0	0	1	0	0	0	16205	1667	58	5	386	5	TMEM71	8	133740199	Missense_Mutation	SNP	T	TCGA-CJ-4886-01A-01D-1373-10		133740199	12623823	7	27515											
SCRIB	23513	hgsc.bcm.edu	37	8	144877654	144877654	+	Missense_Mutation	SNP	T	T	G	rs148494356	byFrequency	TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr8:144877654T>G	ENST00000320476.3	-	25	3656	c.3650A>C	c.(3649-3651)cAc>cCc	p.H1217P	SCRIB_ENST00000356994.2_Missense_Mutation_p.H1217P|SCRIB_ENST00000377533.3_Missense_Mutation_p.H1136P|SCRIB_ENST00000546337.1_5'Flank	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1217	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.H1217P(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTGTTCCGGTGGCCGATGCC	0.667													T|||	55	0.0109824	0.0015	0.0274	5008	,	,		15581	0.0		0.0249	False		,,,				2504	0.0092				Pancreas(51;966 1133 10533 14576 29674)											1	Substitution - Missense(1)	central_nervous_system(1)						T	PRO/HIS,PRO/HIS	11,4395	16.8+/-37.8	0,11,2192	35	34	34		3650,3650	2.7	1	8	dbSNP_134	34	139,8461	59.5+/-121.1	1,137,4162	yes	missense,missense	SCRIB	NM_015356.3,NM_182706.3	77,77	1,148,6354	GG,GT,TT		1.6163,0.2497,1.1533	benign,benign	1217/1631,1217/1656	144877654	150,12856	2203	4300	6503	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3650A>C	8.37:g.144877654T>G	ENSP00000322938:p.His1217Pro		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	32	0.014652014652014652	1	0.0020325203252032522	13	0.03591160220994475	0	0.0	18	0.023746701846965697	T	12.38	1.921726	0.33908	0.002497	0.016163	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.35048	1.55;1.52;1.33	4.67	2.66	0.31614	.	.	.	.	.	T	0.07413	0.0187	L	0.36672	1.1	0.37800	D	0.927686	B;P	0.35923	0.393;0.528	B;B	0.40444	0.176;0.329	T	0.05683	-1.0870	9	0.52906	T	0.07	.	4.5952	0.12325	0.0:0.6169:0.0:0.3831	.	1217;1217	Q14160;Q14160-3	SCRIB_HUMAN;.	P	1217;1217;1136;586	ENSP00000349486:H1217P;ENSP00000322938:H1217P;ENSP00000366756:H1136P	ENSP00000322938:H1217P	H	-	2	0	SCRIB	144949642	0.998000	0.40836	0.991000	0.47740	0.408000	0.30992	3.296000	0.51802	0.259000	0.21709	0.454000	0.30748	CAC		0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		G	144877654	T	G	144877654	3	3	511	1	0	0	0	0	1	0	0	0	13943	1696	59	5	1369	5	SCRIB	8	144877654	Missense_Mutation	SNP	T	TCGA-CJ-4886-01A-01D-1373-10	11137455	144877654	1486368	8	27516											
UBAP2	55833	hgsc.bcm.edu	37	9	33989092	33989092	+	Silent	SNP	C	C	T			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr9:33989092C>T	ENST00000379238.1	-	5	438	c.321G>A	c.(319-321)aaG>aaA	p.K107K	UBAP2_ENST00000360802.1_Silent_p.K107K|UBAP2_ENST00000449054.1_Silent_p.K107K|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000418786.2_Silent_p.K107K					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTGCAAAATTCTTTTTCTTAC	0.378																																																0													104	98	100					9																	33989092		2203	4300	6503	SO:0001819	synonymous_variant	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.321G>A	9.37:g.33989092C>T				Silent	SNP	ENST00000379238.1	37	CCDS6547.1																																																																																				0.378	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		T	33989092	C	T	33989092	2	4	511	1	0	0	0	0	0	0	0	1	16842	912	32	2		2	UBAP2	9	33989092	Silent	SNP	C	TCGA-CJ-4886-01A-01D-1373-10		33989092	107224339	9	27517											
ZNF462	58499	hgsc.bcm.edu	37	9	109687894	109687894	+	Missense_Mutation	SNP	G	G	C	rs536610712	byFrequency	TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr9:109687894G>C	ENST00000277225.5	+	3	1990	c.1701G>C	c.(1699-1701)caG>caC	p.Q567H	ZNF462_ENST00000457913.1_Missense_Mutation_p.Q567H|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	567					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCCACCACAGCTGCAGCCAC	0.652																																																0													100	91	94					9																	109687894		2203	4300	6503	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1701G>C	9.37:g.109687894G>C	ENSP00000277225:p.Gln567His		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671069	0.47781	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.25579	1.79;1.79	5.1	5.1	0.69264	.	0.134693	0.34802	N	0.003679	T	0.15349	0.0370	N	0.08118	0	0.80722	D	1	B;B	0.30542	0.284;0.187	B;B	0.33960	0.173;0.084	T	0.15549	-1.0433	9	.	.	.	.	15.6085	0.76696	0.0:0.0:1.0:0.0	.	567;567	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	567	ENSP00000277225:Q567H;ENSP00000414570:Q567H	.	Q	+	3	2	ZNF462	108727715	1.000000	0.71417	0.987000	0.45799	0.350000	0.29205	3.202000	0.51067	2.542000	0.85734	0.561000	0.74099	CAG		0.652	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		C	109687894	G	C	109687894	3	2	511	1	0	0	0	0	1	0	0	0	17931	962	34	4	1707	4	ZNF462	9	109687894	Missense_Mutation	SNP	G	TCGA-CJ-4886-01A-01D-1373-10	75698802	109687894	31525537	10	27518											
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123169477	123169477	+	Missense_Mutation	SNP	G	G	C	rs374793213		TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr9:123169477G>C	ENST00000349780.4	-	32	4955	c.4776C>G	c.(4774-4776)caC>caG	p.H1592Q	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1551Q|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1560Q|CDK5RAP2_ENST00000360190.4_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1592					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCAGGAGGCTGTGCAGGTCCC	0.572																																																0													79	72	75					9																	123169477		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4776C>G	9.37:g.123169477G>C	ENSP00000343818:p.His1592Gln		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	8.067	0.769314	0.15983	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T	0.21543	3.98;3.9;3.99;2.31;2.0	5.44	-6.71	0.01760	.	0.119134	0.37906	N	0.001891	T	0.13286	0.0322	L	0.41236	1.265	0.18873	N	0.999988	B;B;B;B	0.25048	0.082;0.091;0.117;0.082	B;B;B;B	0.25291	0.059;0.026;0.039;0.059	T	0.07328	-1.0778	10	0.46703	T	0.11	.	11.0202	0.47713	0.6292:0.0917:0.2791:0.0	.	602;1560;1592;986	Q5JTU8;Q96SN8-2;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	Q	1560;1551;1592;986;602;1364	ENSP00000354065:H1560Q;ENSP00000352258:H1551Q;ENSP00000343818:H1592Q;ENSP00000400395:H986Q;ENSP00000409941:H602Q	ENSP00000341695:H1364Q	H	-	3	2	CDK5RAP2	122209298	0.002000	0.14202	0.456000	0.27044	0.724000	0.41520	-1.175000	0.03102	-1.269000	0.02436	-0.136000	0.14681	CAC		0.572	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		C	123169477	G	C	123169477	3	2	511	1	0	0	0	0	1	0	0	0	3148	1368	48	4	933	4	CDK5RAP2	9	123169477	Missense_Mutation	SNP	G	TCGA-CJ-4886-01A-01D-1373-10	13481583	123169477	18043954	11	27519											
ALDH18A1	5832	hgsc.bcm.edu;ucsc.edu	37	10	97371065	97371065	+	Silent	SNP	G	G	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr10:97371065G>A	ENST00000371224.2	-	16	2195	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D	ALDH18A1_ENST00000371221.3_Silent_p.D684D	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	686	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TGTGGATGTGGTCAATGGCAT	0.517																																																0													266	239	248					10																	97371065		2203	4300	6503	SO:0001819	synonymous_variant	5832			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.2058C>T	10.37:g.97371065G>A			B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	CCDS7443.1																																																																																				0.517	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		A	97371065	G	A	97371065	2	1	511	1	0	0	0	0	0	0	0	1	489	1252	44	2		2	ALDH18A1	10	97371065	Silent	SNP	G	TCGA-CJ-4886-01A-01D-1373-10		97371065	38163682	12	27520											
STYK1	55359	hgsc.bcm.edu;ucsc.edu	37	12	10783683	10783683	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr12:10783683G>C	ENST00000075503.3	-	5	932	c.412C>G	c.(412-414)Cct>Gct	p.P138A		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGCTTAGAAGGGTCCCCAGTG	0.478										HNSCC(73;0.22)																																						0													71	68	69					12																	10783683		2203	4300	6503	SO:0001583	missense	55359			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.412C>G	12.37:g.10783683G>C	ENSP00000075503:p.Pro138Ala		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	0.328	-0.957596	0.02267	.	.	ENSG00000060140	ENST00000075503	D	0.81821	-1.54	5.43	-2.42	0.06542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.855925	0.10601	N	0.655694	T	0.57844	0.2081	N	0.17594	0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39702	-0.9601	10	0.35671	T	0.21	-0.2876	0.5086	0.00591	0.2827:0.2043:0.305:0.208	.	138	Q6J9G0	STYK1_HUMAN	A	138	ENSP00000075503:P138A	ENSP00000075503:P138A	P	-	1	0	STYK1	10674950	0.143000	0.22626	0.031000	0.17742	0.017000	0.09413	-0.000000	0.12993	-0.477000	0.06832	-3.869000	0.00017	CCT		0.478	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		C	10783683	G	C	10783683	3	2	511	1	0	0	0	0	1	0	0	0	15364	1232	43	4	884	4	STYK1	12	10783683	Missense_Mutation	SNP	G	TCGA-CJ-4886-01A-01D-1373-10		10783683	123068212	13	27521											
EPB42	2038	hgsc.bcm.edu	37	15	43498732	43498732	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr15:43498732C>A	ENST00000441366.2	-	10	1639	c.1414G>T	c.(1414-1416)Gcc>Tcc	p.A472S	EPB42_ENST00000540029.1_Missense_Mutation_p.A394S|EPB42_ENST00000300215.3_Missense_Mutation_p.A502S|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	472					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGAGGACTGGCAGTCTCGAGA	0.537																																																0													177	166	170					15																	43498732		2203	4299	6502	SO:0001583	missense	2038			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1414G>T	15.37:g.43498732C>A	ENSP00000396616:p.Ala472Ser		Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	0.480	-0.880322	0.02530	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.78816	-1.18;-1.21;-1.19	5.31	-0.706	0.11249	Transglutaminase, C-terminal (1);	1.551550	0.03130	N	0.165042	T	0.55178	0.1904	N	0.08118	0	0.09310	N	1	B;B;B;B	0.27450	0.053;0.113;0.017;0.179	B;B;B;B	0.21708	0.013;0.033;0.02;0.036	T	0.47736	-0.9094	10	0.08837	T	0.75	5.8724	7.3315	0.26586	0.6006:0.3141:0.0:0.0853	.	394;472;502;472	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	S	502;394;472;400	ENSP00000300215:A502S;ENSP00000444699:A394S;ENSP00000396616:A472S	ENSP00000300215:A502S	A	-	1	0	EPB42	41286024	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.185000	0.09684	0.046000	0.15833	0.655000	0.94253	GCC		0.537	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		A	43498732	C	A	43498732	3	1	511	1	0	0	0	0	1	0	0	0	5160	710	25	4	677	4	EPB42	15	43498732	Missense_Mutation	SNP	C	TCGA-CJ-4886-01A-01D-1373-10		43498732	59032660	14	27522											
PPIP5K1	9677	hgsc.bcm.edu	37	15	43827396	43827396	+	Missense_Mutation	SNP	C	C	T	rs201726786		TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr15:43827396C>T	ENST00000396923.3	-	30	3899	c.3778G>A	c.(3778-3780)Gag>Aag	p.E1260K	PPIP5K1_ENST00000420765.1_Missense_Mutation_p.E1260K|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.E1235K|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.E1236K|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.E1256K|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.E1235K|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.E1233K|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.E1233K			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1260					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						TCAGGGACCTCCTGACATGGC	0.562																																																0													104	102	102					15																	43827396		2201	4298	6499	SO:0001583	missense	9677			AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"histidine acid phosphatase domain containing 2A"	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3778G>A	15.37:g.43827396C>T	ENSP00000380129:p.Glu1260Lys		O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738310	0.30774	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.25579	1.84;1.79;2.3;1.79;1.89;1.89;1.83;2.3	3.77	0.576	0.17380	.	0.190177	0.25397	N	0.030977	T	0.16727	0.0402	L	0.38175	1.15	0.26007	N	0.982048	B;B;B;B	0.22683	0.073;0.012;0.01;0.021	B;B;B;B	0.27380	0.079;0.014;0.033;0.033	T	0.15896	-1.0421	10	0.52906	T	0.07	-3.52	3.4439	0.07473	0.1528:0.4049:0.3442:0.0981	.	1233;1260;1257;1235	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	K	1256;1235;1233;1235;1260;1260;1235;1260;1236;1233;1022	ENSP00000371309:E1256K;ENSP00000353446:E1235K;ENSP00000353253:E1233K;ENSP00000334779:E1235K;ENSP00000380129:E1260K;ENSP00000400887:E1260K;ENSP00000371303:E1236K;ENSP00000308773:E1233K	ENSP00000304750:E1260K	E	-	1	0	PPIP5K1	41614688	0.544000	0.26441	0.565000	0.28409	0.982000	0.71751	0.120000	0.15647	0.008000	0.14787	0.462000	0.41574	GAG		0.562	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		T	43827396	C	T	43827396	3	4	511	1	0	0	0	0	1	0	0	0	12337	864	30	2	527	2	PPIP5K1	15	43827396	Missense_Mutation	SNP	C	TCGA-CJ-4886-01A-01D-1373-10	328664	43827396	58703996	15	27523											
SALL1	6299	hgsc.bcm.edu;ucsc.edu	37	16	51172834	51172834	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr16:51172834C>A	ENST00000251020.4	-	2	3332	c.3299G>T	c.(3298-3300)aGt>aTt	p.S1100I	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S1003I|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1100					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGTGTCCTTACTGTCCTGAGG	0.577																																					GBM(103;1352 1446 1855 4775 8890)											0													110	98	102					16																	51172834		2198	4300	6498	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3299G>T	16.37:g.51172834C>A	ENSP00000251020:p.Ser1100Ile		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792816	0.31685	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07908	3.15;3.16	5.42	5.42	0.78866	.	0.189736	0.53938	D	0.000042	T	0.03915	0.0110	N	0.02539	-0.55	0.27577	N	0.949696	B	0.02656	0.0	B	0.04013	0.001	T	0.38243	-0.9670	10	0.23891	T	0.37	.	14.112	0.65126	0.1503:0.8497:0.0:0.0	.	1100	Q9NSC2	SALL1_HUMAN	I	1100;1003;1064	ENSP00000251020:S1100I;ENSP00000407914:S1003I	ENSP00000251020:S1100I	S	-	2	0	SALL1	49730335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.098000	0.31000	2.529000	0.85273	0.563000	0.77884	AGT		0.577	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		A	51172834	C	A	51172834	3	1	511	1	0	0	0	0	1	0	0	0	13816	565	20	4	683	4	SALL1	16	51172834	Missense_Mutation	SNP	C	TCGA-CJ-4886-01A-01D-1373-10		51172834	39181919	16	27524											
SLC7A5	8140	hgsc.bcm.edu;ucsc.edu	37	16	87871508	87871508	+	Silent	SNP	G	G	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr16:87871508G>A	ENST00000261622.4	-	7	1148	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	SLC7A5_ENST00000565644.1_Silent_p.S95S|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	361					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	TGGAGAGGATGGAGGGCAGGT	0.647																																																0													125	101	110					16																	87871508		2197	4299	6496	SO:0001819	synonymous_variant	8140			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1083C>T	16.37:g.87871508G>A			Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	ENST00000261622.4	37	CCDS10964.1																																																																																				0.647	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		A	87871508	G	A	87871508	2	1	511	1	0	0	0	0	0	0	0	1	14706	1335	47	2		2	SLC7A5	16	87871508	Silent	SNP	G	TCGA-CJ-4886-01A-01D-1373-10	36698674	87871508	2483245	17	27525											
CHD3	1107	hgsc.bcm.edu	37	17	7802423	7802423	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr17:7802423T>A	ENST00000330494.7	+	14	2396	c.2246T>A	c.(2245-2247)tTc>tAc	p.F749Y	CHD3_ENST00000380358.4_Missense_Mutation_p.F808Y|CHD3_ENST00000358181.4_Missense_Mutation_p.F749Y	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	749	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGGCTACGCTTCTCCTGGGCC	0.527																																																0													131	123	126					17																	7802423		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2246T>A	17.37:g.7802423T>A	ENSP00000332628:p.Phe749Tyr		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652537	0.67472	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93604	-3.25;-3.25;-3.25	5.47	5.47	0.80525	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.48286	D	0.000186	D	0.92456	0.7605	N	0.13272	0.32	0.58432	D	0.999999	D;D;D	0.69078	0.989;0.991;0.997	D;D;D	0.76071	0.969;0.982;0.987	D	0.90478	0.4458	10	0.16896	T	0.51	-16.152	15.8518	0.78937	0.0:0.0:0.0:1.0	.	749;749;808	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Y	808;749;749	ENSP00000369716:F808Y;ENSP00000350907:F749Y;ENSP00000332628:F749Y	ENSP00000332628:F749Y	F	+	2	0	CHD3	7743148	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.977000	0.88081	2.215000	0.71742	0.459000	0.35465	TTC		0.527	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		A	7802423	T	A	7802423	3	1	511	1	0	0	0	0	1	0	0	0	3328	1783	62	5	2581	5	CHD3	17	7802423	Missense_Mutation	SNP	T	TCGA-CJ-4886-01A-01D-1373-10		7802423	73392787	18	27526											
MED13	9969	hgsc.bcm.edu	37	17	60088124	60088124	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr17:60088124G>A	ENST00000397786.2	-	9	1830	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	585					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGTGGGAAAGACTGGGACAA	0.413																																																0													137	122	127					17																	60088124		1876	4103	5979	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1754C>T	17.37:g.60088124G>A	ENSP00000380888:p.Ser585Phe		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487355	0.26686	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74632	-0.86	6.02	6.02	0.97574	.	0.160430	0.56097	D	0.000028	T	0.61413	0.2345	N	0.08118	0	0.34733	D	0.729935	P;B	0.41569	0.755;0.412	B;B	0.41813	0.367;0.054	T	0.65553	-0.6140	10	0.22109	T	0.4	-28.0651	20.547	0.99278	0.0:0.0:1.0:0.0	.	98;585	Q9P0Q5;Q9UHV7	.;MED13_HUMAN	F	585;584	ENSP00000380888:S585F	ENSP00000262436:S584F	S	-	2	0	MED13	57442906	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.634000	0.91002	2.850000	0.98022	0.650000	0.86243	TCT		0.413	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		A	60088124	G	A	60088124	3	1	511	1	0	0	0	0	1	0	0	0	9432	942	33	2	4858	2	MED13	17	60088124	Missense_Mutation	SNP	G	TCGA-CJ-4886-01A-01D-1373-10	52285701	60088124	21107086	19	27527											
ZMAT5	55954	hgsc.bcm.edu	37	22	30134342	30134342	+	Silent	SNP	C	C	A			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chr22:30134342C>A	ENST00000344318.3	-	5	476	c.360G>T	c.(358-360)cgG>cgT	p.R120R	ZMAT5_ENST00000397781.3_Silent_p.R120R	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	120					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTGAGCTCAGCCGCTTGGCTC	0.662																																																0													72	63	66					22																	30134342		2203	4300	6503	SO:0001819	synonymous_variant	55954				CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"Zinc fingers, matrin-type"	28046	protein-coding gene	gene with protein product	"U11/U12 snRNP 20K"					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.360G>T	22.37:g.30134342C>A			A8K9F6	Silent	SNP	ENST00000344318.3	37	CCDS13868.1																																																																																				0.662	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1	NM_019103		A	30134342	C	A	30134342	2	1	511	1	0	0	0	0	0	0	0	1	17700	726	26	4		4	ZMAT5	22	30134342	Silent	SNP	C	TCGA-CJ-4886-01A-01D-1373-10		30134342	21170224	20	27528											
RGAG1	57529	hgsc.bcm.edu;ucsc.edu	37	X	109696889	109696889	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chrX:109696889C>G	ENST00000465301.2	+	3	3290	c.3044C>G	c.(3043-3045)gCc>gGc	p.A1015G	RGAG1_ENST00000540313.1_Missense_Mutation_p.A1015G	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1015										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGAAGGATGGCCACAGCGCCA	0.502																																																0													214	186	196					X																	109696889		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3044C>G	X.37:g.109696889C>G	ENSP00000419786:p.Ala1015Gly		Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	4.241	0.043760	0.08196	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.54071	0.59;0.59	4.24	2.47	0.30058	.	1.230940	0.06323	N	0.704870	T	0.44329	0.1288	L	0.44542	1.39	0.09310	N	1	B	0.33171	0.4	B	0.33960	0.173	T	0.33523	-0.9865	9	.	.	.	3.7113	5.9158	0.19053	0.0:0.7686:0.0:0.2314	.	1015	Q8NET4	RGAG1_HUMAN	G	1015;1015;576	ENSP00000419786:A1015G;ENSP00000441452:A1015G	.	A	+	2	0	RGAG1	109583545	0.001000	0.12720	0.000000	0.03702	0.046000	0.14306	1.276000	0.33156	0.534000	0.28695	0.600000	0.82982	GCC		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		G	109696889	C	G	109696889	3	3	511	1	0	0	0	0	1	0	0	0	13280	739	26	4	3046	4	RGAG1	23	109696889	Missense_Mutation	SNP	C	TCGA-CJ-4886-01A-01D-1373-10		109696889	45573671	21	27529											
ATP2B3	492	hgsc.bcm.edu	37	X	152811579	152811579	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4886-01A-01D-1373-10	TCGA-CJ-4886-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2c5bf34f-adf9-4e4e-9711-70af1341d542	93f0b87e-fd9d-420f-85e8-5f6bc21b8b17	g.chrX:152811579A>G	ENST00000349466.2	+	7	1276	c.950A>G	c.(949-951)cAg>cGg	p.Q317R	ATP2B3_ENST00000370181.2_Intron|ATP2B3_ENST00000393842.1_Intron|ATP2B3_ENST00000359149.3_Missense_Mutation_p.Q317R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.Q317R|ATP2B3_ENST00000370186.1_Intron			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	317					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGTAGCCAGACCAAAGGT	0.637																																																0													68	55	59					X																	152811579		2201	4300	6501	SO:0001583	missense	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.950A>G	X.37:g.152811579A>G	ENSP00000343886:p.Gln317Arg		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	7.568	0.666216	0.14710	.	.	ENSG00000067842	ENST00000349466;ENST00000359149;ENST00000263519	D;D;D	0.93659	-3.26;-3.26;-3.26	4.97	4.97	0.65823	ATPase, P-type, ATPase-associated domain (1);	1.358030	0.04967	N	0.463189	D	0.85509	0.5713	N	0.05230	-0.09	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.62982	-0.6738	10	0.07175	T	0.84	-6.205	12.7934	0.57547	1.0:0.0:0.0:0.0	.	317;317	Q16720;Q16720-2	AT2B3_HUMAN;.	R	317	ENSP00000343886:Q317R;ENSP00000352062:Q317R;ENSP00000263519:Q317R	ENSP00000263519:Q317R	Q	+	2	0	ATP2B3	152464773	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.993000	0.76245	1.659000	0.50751	0.352000	0.21897	CAG		0.637	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		G	152811579	A	G	152811579	3	3	511	1	0	0	0	0	1	0	0	0	1141	188	7	3	972	3	ATP2B3	23	152811579	Missense_Mutation	SNP	A	TCGA-CJ-4886-01A-01D-1373-10	43114690	152811579	2458981	22	27530											
PRKCZ	5590	hgsc.bcm.edu;ucsc.edu	37	1	2077494	2077494	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:2077494C>T	ENST00000400921.2	+	4	715	c.32C>T	c.(31-33)cCa>cTa	p.P11L	RP5-892K4.1_ENST00000606533.1_RNA|PRKCZ_ENST00000400920.1_Missense_Mutation_p.P11L|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	194					actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CAAGAGCCTCCAGTAGACGAC	0.552																																																0													89	74	79					1																	2077494		2203	4300	6503	SO:0001583	missense	5590			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.32C>T	1.37:g.2077494C>T	ENSP00000383712:p.Pro11Leu		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578758	0.28180	.	.	ENSG00000067606	ENST00000378567;ENST00000468310;ENST00000400921;ENST00000495347;ENST00000461106;ENST00000470596;ENST00000496325;ENST00000482686;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000471018;ENST00000466352;ENST00000497183	T;D;T;T;T;T;T;T;T	0.88509	-0.33;-2.39;-0.14;-0.33;1.63;-0.14;0.42;1.05;1.06	5.04	4.05	0.47172	.	0.455201	0.23420	N	0.048378	T	0.72195	0.3430	N	0.08118	0	0.36190	D	0.849999	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.0;0.004;0.0	T	0.67225	-0.5724	10	0.08837	T	0.75	.	7.043	0.25031	0.4082:0.4622:0.1296:0.0	.	90;18;194	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	L	194;164;11;11;90;11;11;11;11;7;11;11;11;11;7	ENSP00000367830:P194L;ENSP00000424945:P164L;ENSP00000383712:P11L;ENSP00000426412:P90L;ENSP00000424228:P11L;ENSP00000383711:P11L;ENSP00000424763:P7L;ENSP00000421219:P11L;ENSP00000422764:P7L	ENSP00000367830:P194L	P	+	2	0	PRKCZ	2067354	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.390000	0.34464	2.348000	0.79779	0.462000	0.41574	CCA		0.552	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		T	2077494	C	T	2077494	3	4	512	1	0	0	0	0	1	0	0	0	12522	594	21	2	607	2	PRKCZ	1	2077494	Missense_Mutation	SNP	C	TCGA-CJ-4887-01A-01D-1373-10		2077494	247173127	1	27531											
MTOR	2475	hgsc.bcm.edu;ucsc.edu	37	1	11182158	11182158	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:11182158A>C	ENST00000361445.4	-	48	6764	c.6688T>G	c.(6688-6690)Tta>Gta	p.L2230V	MTOR_ENST00000376838.1_Missense_Mutation_p.L435V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2230	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTGGTCGATAAAGGGATGACA	0.532																																																0													117	118	117					1																	11182158		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6688T>G	1.37:g.11182158A>C	ENSP00000354558:p.Leu2230Val		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320499	0.60634	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.84223	-1.82;-1.82	5.36	1.73	0.24493	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	H	0.96748	3.875	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.91930	0.5554	10	0.87932	D	0	-22.7057	8.7127	0.34393	0.6089:0.0:0.3911:0.0	.	2230	P42345	MTOR_HUMAN	V	2230;435	ENSP00000354558:L2230V;ENSP00000366034:L435V	ENSP00000354558:L2230V	L	-	1	2	MTOR	11104745	0.610000	0.26983	0.334000	0.25495	0.735000	0.41995	0.660000	0.25009	0.044000	0.15775	0.528000	0.53228	TTA		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		C	11182158	A	C	11182158	3	2	512	1	0	0	0	0	1	0	0	0	9956	11	1	5	1005	5	MTOR	1	11182158	Missense_Mutation	SNP	A	TCGA-CJ-4887-01A-01D-1373-10	9104664	11182158	238068463	2	27532											
PTGFRN	5738	hgsc.bcm.edu	37	1	117484595	117484595	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:117484595A>G	ENST00000393203.2	+	2	455	c.308A>G	c.(307-309)gAg>gGg	p.E103G		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	103	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GACGCCGTGGAGCTCCACATA	0.587																																																0													104	95	98					1																	117484595		2203	4300	6503	SO:0001583	missense	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.308A>G	1.37:g.117484595A>G	ENSP00000376899:p.Glu103Gly		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	CCDS890.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.853325	0.71719	.	.	ENSG00000134247	ENST00000393203	T	0.02682	4.2	5.09	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109676	0.64402	D	0.000010	T	0.04407	0.0121	L	0.53249	1.67	0.41529	D	0.988444	D	0.89917	1.0	D	0.77557	0.99	T	0.52990	-0.8501	10	0.21014	T	0.42	-38.62	8.5845	0.33649	0.8284:0.0:0.0:0.1716	.	103	Q9P2B2	FPRP_HUMAN	G	103	ENSP00000376899:E103G	ENSP00000376899:E103G	E	+	2	0	PTGFRN	117286118	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.529000	0.60588	2.058000	0.61347	0.383000	0.25322	GAG		0.587	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		G	117484595	A	G	117484595	3	3	512	1	0	0	0	0	1	0	0	0	12756	304	11	3	314	3	PTGFRN	1	117484595	Missense_Mutation	SNP	A	TCGA-CJ-4887-01A-01D-1373-10	106302437	117484595	131766026	3	27533											
NPR1	4881	hgsc.bcm.edu;ucsc.edu	37	1	153658648	153658648	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:153658648C>A	ENST00000368680.3	+	10	2202	c.1730C>A	c.(1729-1731)aCa>aAa	p.T577K		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	577	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATTGAGCTGACACGAAAAGTC	0.552																																					Pancreas(141;1349 1870 15144 15830 40702)											0													145	118	127					1																	153658648		2203	4300	6503	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1730C>A	1.37:g.153658648C>A	ENSP00000357669:p.Thr577Lys		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374872	0.82573	.	.	ENSG00000169418	ENST00000368680	D	0.81659	-1.52	3.92	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147360	0.42172	D	0.000757	T	0.77226	0.4099	L	0.45470	1.425	0.80722	D	1	P	0.46220	0.874	P	0.53760	0.734	T	0.77574	-0.2537	10	0.41790	T	0.15	.	13.8251	0.63346	0.0:1.0:0.0:0.0	.	577	P16066	ANPRA_HUMAN	K	577	ENSP00000357669:T577K	ENSP00000357669:T577K	T	+	2	0	NPR1	151925272	0.991000	0.36638	0.940000	0.37924	0.996000	0.88848	2.934000	0.48956	2.191000	0.70037	0.561000	0.74099	ACA		0.552	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		A	153658648	C	A	153658648	3	1	512	1	0	0	0	0	1	0	0	0	10596	478	17	4	1768	4	NPR1	1	153658648	Missense_Mutation	SNP	C	TCGA-CJ-4887-01A-01D-1373-10	36174053	153658648	95591973	4	27534											
TNR	7143	hgsc.bcm.edu;ucsc.edu	37	1	175293500	175293500	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:175293500G>T	ENST00000367674.2	-	22	4657	c.3949C>A	c.(3949-3951)Cac>Aac	p.H1317N	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.H1317N			Q92752	TENR_HUMAN	tenascin R	1317	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCTGACTGTGCCTGGACTCC	0.498																																																0													182	132	149					1																	175293500		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3949C>A	1.37:g.175293500G>T	ENSP00000356646:p.His1317Asn		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119474	0.94385	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.76316	-1.01;-1.01	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.053822	0.64402	D	0.000001	D	0.87313	0.6146	M	0.67953	2.075	0.80722	D	1	D	0.61080	0.989	D	0.70487	0.969	D	0.87020	0.2128	10	0.54805	T	0.06	.	19.3551	0.94408	0.0:0.0:1.0:0.0	.	1317	Q92752	TENR_HUMAN	N	1317;1317;1227	ENSP00000356646:H1317N;ENSP00000263525:H1317N	ENSP00000263525:H1317N	H	-	1	0	TNR	173560123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.731000	0.98807	2.666000	0.90696	0.655000	0.94253	CAC		0.498	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175293500	G	T	175293500	3	4	512	1	0	0	0	0	1	0	0	0	16343	1319	46	4	135	4	TNR	1	175293500	Missense_Mutation	SNP	G	TCGA-CJ-4887-01A-01D-1373-10	21634852	175293500	73957121	5	27535											
CACNA1E	777	hgsc.bcm.edu	37	1	181453105	181453105	+	Silent	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr1:181453105T>C	ENST00000367573.2	+	1	225	c.225T>C	c.(223-225)gaT>gaC	p.D75D	CACNA1E_ENST00000358338.5_Silent_p.D26D|CACNA1E_ENST00000360108.3_Silent_p.D75D|CACNA1E_ENST00000526775.1_Silent_p.D75D|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.D26D|CACNA1E_ENST00000367570.1_Silent_p.D75D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	75					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCGGAGAAGATAACATTGTCA	0.507																																																0													185	188	187					1																	181453105		1922	4141	6063	SO:0001819	synonymous_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.225T>C	1.37:g.181453105T>C			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.507	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		C	181453105	T	C	181453105	2	2	512	1	0	0	0	0	0	0	0	1	2544	1403	49	3		3	CACNA1E	1	181453105	Silent	SNP	T	TCGA-CJ-4887-01A-01D-1373-10	6159605	181453105	67797516	6	27536											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52620674	52620674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr3:52620674G>A	ENST00000296302.7	-	20	3155	c.3154C>T	c.(3154-3156)Cga>Tga	p.R1052*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1027*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R1020*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1052*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1027*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1067*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1052*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1067*			Q86U86	PB1_HUMAN	polybromo 1	1052	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1052*(3)|p.R1020*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCCTCATCTCGGAAGTTTTCT	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	5	Substitution - Nonsense(5)	kidney(3)|central_nervous_system(2)											59	64	62					3																	52620674		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3154C>T	3.37:g.52620674G>A	ENSP00000296302:p.Arg1052*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	38	6.964974	0.97967	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.24	0.945	0.19543	.	0.148125	0.43747	D	0.000526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-38.8081	10.2479	0.43352	0.0:0.1033:0.4046:0.4922	.	.	.	.	X	1020;1027;1052;1052;1052;1027;1067;1067;1051;1010	.	ENSP00000296302:R1052X	R	-	1	2	PBRM1	52595714	0.990000	0.36364	0.995000	0.50966	0.972000	0.66771	0.386000	0.20702	0.160000	0.19432	-0.324000	0.08512	CGA		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52620674	G	A	52620674	4	1	512	1	0	0	0	0	0	1	0	0	11493	1124	39	1	1790	1	PBRM1	3	52620674	Nonsense_Mutation	SNP	G	TCGA-CJ-4887-01A-01D-1373-10		52620674	145401756	7	27537											
APPL1	26060	hgsc.bcm.edu	37	3	57280133	57280133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr3:57280133C>A	ENST00000288266.3	+	8	651	c.504C>A	c.(502-504)taC>taA	p.Y168*		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	168	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AAGATGTGTACACATCCAGAA	0.284																																																0													144	132	136					3																	57280133		2203	4299	6502	SO:0001587	stop_gained	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.504C>A	3.37:g.57280133C>A	ENSP00000288266:p.Tyr168*		Q9P2B9	Nonsense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873884	0.91664	.	.	ENSG00000157500	ENST00000288266	.	.	.	5.48	-0.285	0.12866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.6837	9.272	0.37677	0.0:0.4035:0.0:0.5965	.	.	.	.	X	168	.	ENSP00000288266:Y168X	Y	+	3	2	APPL1	57255173	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	1.499000	0.35671	0.057000	0.16193	-0.216000	0.12614	TAC		0.284	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		A	57280133	C	A	57280133	4	1	512	1	0	0	0	0	0	1	0	0	817	489	17	4	534	4	APPL1	3	57280133	Nonsense_Mutation	SNP	C	TCGA-CJ-4887-01A-01D-1373-10	4659459	57280133	140742297	8	27538											
DNAH12	201625	hgsc.bcm.edu;ucsc.edu	37	3	57405106	57405106	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr3:57405106A>G	ENST00000351747.2	-	37	5825	c.5645T>C	c.(5644-5646)aTt>aCt	p.I1882T		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1882	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TGCATAGGTAATACTCAAATC	0.289																																																0													116	98	104					3																	57405106		692	1591	2283	SO:0001583	missense	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.5645T>C	3.37:g.57405106A>G	ENSP00000295937:p.Ile1882Thr		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37		.	.	.	.	.	.	.	.	.	.	A	13.40	2.226180	0.39300	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.18016	2.24;2.24	6.01	6.01	0.97437	.	.	.	.	.	T	0.22975	0.0555	L	0.55213	1.73	0.80722	D	1	P	0.35493	0.505	B	0.39617	0.305	T	0.01323	-1.1385	9	0.32370	T	0.25	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	1882	Q6ZR08	DYH12_HUMAN	T	1882;1901	ENSP00000295937:I1882T;ENSP00000418137:I1901T	ENSP00000295937:I1882T	I	-	2	0	DNAH12	57380146	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.779000	0.91792	2.307000	0.77673	0.528000	0.53228	ATT		0.289	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		G	57405106	A	G	57405106	3	3	512	1	0	0	0	0	1	0	0	0	4602	101	4	3	3725	3	DNAH12	3	57405106	Missense_Mutation	SNP	A	TCGA-CJ-4887-01A-01D-1373-10	124973	57405106	140617324	9	27539											
ARHGAP31	57514	hgsc.bcm.edu	37	3	119133103	119133103	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr3:119133103A>C	ENST00000264245.4	+	12	2859	c.2327A>C	c.(2326-2328)aAt>aCt	p.N776T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	776	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.N776T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGCCCAGGCAATCTGTCTCCT	0.582																																					Pancreas(7;176 297 5394 51128 51241)											1	Substitution - Missense(1)	ovary(1)											54	58	56					3																	119133103		1948	4147	6095	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2327A>C	3.37:g.119133103A>C	ENSP00000264245:p.Asn776Thr		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340695	0.41498	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07327	3.2	5.3	4.11	0.48088	.	0.363586	0.26522	N	0.023912	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	B	0.32573	0.376	B	0.30401	0.115	T	0.26677	-1.0096	10	0.72032	D	0.01	.	9.3552	0.38161	0.9175:0.0:0.0825:0.0	.	776	Q2M1Z3	RHG31_HUMAN	T	776	ENSP00000264245:N776T	ENSP00000264245:N776T	N	+	2	0	ARHGAP31	120615793	0.087000	0.21565	0.024000	0.17045	0.101000	0.19017	1.302000	0.33459	2.225000	0.72522	0.533000	0.62120	AAT		0.582	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			C	119133103	A	C	119133103	3	2	512	1	0	0	0	0	1	0	0	0	880	101	4	5	2373	5	ARHGAP31	3	119133103	Missense_Mutation	SNP	A	TCGA-CJ-4887-01A-01D-1373-10	61727997	119133103	78889327	10	27540											
PLOD2	5352	hgsc.bcm.edu;ucsc.edu	37	3	145804638	145804638	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr3:145804638T>C	ENST00000360060.3	-	10	1240	c.1063A>G	c.(1063-1065)Aaa>Gaa	p.K355E	PLOD2_ENST00000494950.1_Missense_Mutation_p.K300E|PLOD2_ENST00000282903.5_Missense_Mutation_p.K355E|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_5'Flank	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	355					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTTATAGTTTTGATTTCATGC	0.249																																																0													43	42	42					3																	145804638		2186	4279	6465	SO:0001583	missense	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1063A>G	3.37:g.145804638T>C	ENSP00000353170:p.Lys355Glu		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	T	7.574	0.667306	0.14710	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	D;D;D	0.84730	-1.89;-1.89;-1.89	5.34	2.99	0.34606	.	0.635583	0.18464	N	0.140440	T	0.70219	0.3199	L	0.27053	0.805	0.22424	N	0.999112	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.12837	0.008;0.001;0.001	T	0.51872	-0.8650	10	0.02654	T	1	-2.7134	7.6828	0.28524	0.0:0.2301:0.0:0.7699	.	300;355;355	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	E	355;355;300	ENSP00000282903:K355E;ENSP00000353170:K355E;ENSP00000420094:K300E	ENSP00000282903:K355E	K	-	1	0	PLOD2	147287328	0.906000	0.30813	0.989000	0.46669	0.950000	0.60333	1.389000	0.34453	0.369000	0.24510	0.402000	0.26972	AAA		0.249	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		C	145804638	T	C	145804638	3	2	512	1	0	0	0	0	1	0	0	0	12104	1821	63	3	1257	3	PLOD2	3	145804638	Missense_Mutation	SNP	T	TCGA-CJ-4887-01A-01D-1373-10	26671535	145804638	52217792	11	27541											
CC2D2A	57545	hgsc.bcm.edu;ucsc.edu	37	4	15538634	15538634	+	Missense_Mutation	SNP	T	T	C	rs376562389		TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr4:15538634T>C	ENST00000503292.1	+	16	1879	c.1699T>C	c.(1699-1701)Tac>Cac	p.Y567H	CC2D2A_ENST00000389652.5_Missense_Mutation_p.Y518H|CC2D2A_ENST00000424120.1_Missense_Mutation_p.Y567H|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Missense_Mutation_p.Y567H	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	567					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CACGGAGGAGTACGCACAGAA	0.433																																																0								T	HIS/TYR	1,3993		0,1,1996	91	92	92		1699	4.4	0	4		92	0,8338		0,0,4169	no	missense	CC2D2A	NM_001080522.2	83	0,1,6165	CC,CT,TT		0.0,0.025,0.0081	benign	567/1621	15538634	1,12331	1997	4169	6166	SO:0001583	missense	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1699T>C	4.37:g.15538634T>C	ENSP00000421809:p.Tyr567His		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271372	0.40194	2.5E-4	0.0	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.58	4.38	0.52667	.	0.143795	0.48767	N	0.000180	T	0.20455	0.0492	L	0.42744	1.35	0.80722	D	1	B;B	0.22800	0.075;0.075	B;B	0.29785	0.107;0.107	T	0.02975	-1.1087	10	0.40728	T	0.16	.	10.7642	0.46283	0.0:0.0771:0.0:0.9229	.	567;518	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	H	567;567;518;518;567;567;518	ENSP00000403465:Y567H;ENSP00000398391:Y567H;ENSP00000422875:Y567H;ENSP00000421809:Y567H;ENSP00000374303:Y518H	ENSP00000374303:Y518H	Y	+	1	0	CC2D2A	15147732	0.991000	0.36638	0.016000	0.15963	0.007000	0.05969	2.446000	0.44908	0.923000	0.37045	0.533000	0.62120	TAC		0.433	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		C	15538634	T	C	15538634	3	2	512	1	0	0	0	0	1	0	0	0	2730	1638	57	3	1956	3	CC2D2A	4	15538634	Missense_Mutation	SNP	T	TCGA-CJ-4887-01A-01D-1373-10		15538634	175615642	12	27542											
CLRN2	645104	hgsc.bcm.edu;ucsc.edu	37	4	17524535	17524535	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr4:17524535T>C	ENST00000511148.2	+	2	404	c.302T>C	c.(301-303)aTt>aCt	p.I101T		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	101						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CATGTGATGATTCTGCTGCTC	0.542																																																0													138	146	144					4																	17524535		2135	4240	6375	SO:0001583	missense	645104				CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.302T>C	4.37:g.17524535T>C	ENSP00000424711:p.Ile101Thr			Missense_Mutation	SNP	ENST00000511148.2	37	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.559517	0.45590	.	.	ENSG00000249581	ENST00000511148	T	0.78003	-1.14	4.94	3.76	0.43208	.	0.226336	0.39146	N	0.001452	T	0.74215	0.3687	L	0.59436	1.845	0.48830	D	0.99971	B	0.21147	0.052	B	0.32677	0.15	T	0.66775	-0.5838	10	0.30854	T	0.27	-4.3529	10.048	0.42199	0.0:0.0809:0.0:0.9191	.	101	A0PK11	CLRN2_HUMAN	T	101	ENSP00000424711:I101T	ENSP00000424711:I101T	I	+	2	0	CLRN2	17133633	0.997000	0.39634	0.120000	0.21714	0.945000	0.59286	3.372000	0.52387	0.753000	0.32945	0.383000	0.25322	ATT		0.542	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		C	17524535	T	C	17524535	3	2	512	1	0	0	0	0	1	0	0	0	3560	1493	52	3	308	3	CLRN2	4	17524535	Missense_Mutation	SNP	T	TCGA-CJ-4887-01A-01D-1373-10	1985901	17524535	173629741	13	27543											
LIMCH1	22998	hgsc.bcm.edu	37	4	41664844	41664844	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr4:41664844A>C	ENST00000313860.7	+	15	2033	c.1979A>C	c.(1978-1980)cAg>cCg	p.Q660P	LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q660P|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q660P|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q501P|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q501P|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q660P|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q489P|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q494P|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q648P|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q1045P|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q494P|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q506P	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	660					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCAGAACCACAGCATTTTACA	0.438																																																0													88	88	88					4																	41664844		2203	4300	6503	SO:0001583	missense	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1979A>C	4.37:g.41664844A>C	ENSP00000316891:p.Gln660Pro		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.053|9.053	0.992600|0.992600	0.18966|0.18966	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.49139|.	0.83;1.39;1.4;1.4;0.79;1.41;0.8;0.81;0.81;0.81;0.81;0.81|.	5.21|5.21	4.01|4.01	0.46588|0.46588	.|.	0.556047|.	0.18147|.	N|.	0.150231|.	T|T	0.50667|0.50667	0.1629|0.1629	L|L	0.47716|0.47716	1.5|1.5	0.35645|0.35645	D|D	0.811318|0.811318	D;D;P;D;B;D;P;D;P;P;D|.	0.65815|.	0.97;0.962;0.902;0.961;0.12;0.981;0.877;0.975;0.856;0.911;0.995|.	P;P;P;P;B;D;P;P;B;P;P|.	0.76071|.	0.811;0.701;0.63;0.786;0.059;0.987;0.649;0.679;0.424;0.628;0.899|.	T|T	0.56288|0.56288	-0.8004|-0.8004	10|5	0.44086|.	T|.	0.13|.	-10.5908|-10.5908	8.2901|8.2901	0.31952|0.31952	0.8236:0.0:0.0:0.1764|0.8236:0.0:0.0:0.1764	.|.	411;494;660;494;506;1045;489;648;660;660;660|.	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	P|R	489;660;660;660;660;648;1045;501;1044;501;494;506;494;13|495	ENSP00000425222:Q489P;ENSP00000424825:Q660P;ENSP00000424645:Q660P;ENSP00000316891:Q660P;ENSP00000427045:Q660P;ENSP00000424437:Q648P;ENSP00000425631:Q1045P;ENSP00000421242:Q501P;ENSP00000426334:Q501P;ENSP00000422864:Q494P;ENSP00000379840:Q506P;ENSP00000371172:Q494P|.	ENSP00000316891:Q660P|.	Q|S	+|+	2|1	0|0	LIMCH1|LIMCH1	41359601|41359601	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.001000|0.001000	0.01503|0.01503	4.909000|4.909000	0.63314|0.63314	0.799000|0.799000	0.34018|0.34018	-0.333000|-0.333000	0.08304|0.08304	CAG|AGC		0.438	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		C	41664844	A	C	41664844	3	2	512	1	0	0	0	0	1	0	0	0	8799	188	7	5	2065	5	LIMCH1	4	41664844	Missense_Mutation	SNP	A	TCGA-CJ-4887-01A-01D-1373-10	24140309	41664844	149489432	14	27544											
THAP9	79725	hgsc.bcm.edu	37	4	83838547	83838547	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr4:83838547C>G	ENST00000302236.5	+	5	1233	c.1182C>G	c.(1180-1182)gaC>gaG	p.D394E	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	394					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATGGAGACGACATGAAATGTA	0.393																																																0													113	103	107					4																	83838547		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1182C>G	4.37:g.83838547C>G	ENSP00000305533:p.Asp394Glu		B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	0.325	-0.959480	0.02267	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90004	-2.6	3.27	0.604	0.17547	.	1.521620	0.04126	N	0.317148	T	0.75339	0.3836	N	0.14661	0.345	0.47183	D	0.99934	B	0.13145	0.007	B	0.09377	0.004	T	0.66176	-0.5989	10	0.05721	T	0.95	-7.5132	3.7015	0.08384	0.0:0.4396:0.211:0.3494	.	394	Q9H5L6	THAP9_HUMAN	E	394	ENSP00000305533:D394E	ENSP00000305533:D394E	D	+	3	2	THAP9	84057571	0.993000	0.37304	0.768000	0.31515	0.004000	0.04260	0.169000	0.16641	0.076000	0.16826	-0.143000	0.13931	GAC		0.393	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		G	83838547	C	G	83838547	3	3	512	1	0	0	0	0	1	0	0	0	15856	477	17	4	1200	4	THAP9	4	83838547	Missense_Mutation	SNP	C	TCGA-CJ-4887-01A-01D-1373-10	42173703	83838547	107315729	15	27545											
CDH18	1016	hgsc.bcm.edu	37	5	19544098	19544098	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr5:19544098T>G	ENST00000507958.1	-	11	2260	c.1270A>C	c.(1270-1272)Aat>Cat	p.N424H	CDH18_ENST00000502796.1_Missense_Mutation_p.N424H|CDH18_ENST00000274170.4_Missense_Mutation_p.N424H|CDH18_ENST00000382275.1_Missense_Mutation_p.N424H|CDH18_ENST00000511273.1_Missense_Mutation_p.N424H|CDH18_ENST00000506372.1_Missense_Mutation_p.N424H			Q13634	CAD18_HUMAN	cadherin 18, type 2	424	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTTCAACATTGTAGTTGATG	0.333																																																0													89	85	86					5																	19544098		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1270A>C	5.37:g.19544098T>G	ENSP00000425093:p.Asn424His		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	1.810	-0.474972	0.04414	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.44	1.36	0.22044	Cadherin (4);Cadherin-like (1);	0.474466	0.24027	N	0.042240	T	0.30386	0.0763	N	0.10733	0.035	0.31173	N	0.702995	P;B	0.36660	0.564;0.024	P;B	0.46419	0.516;0.034	T	0.30822	-0.9965	9	.	.	.	.	6.3854	0.21558	0.0:0.0855:0.296:0.6185	.	424;424	B4DHG6;Q13634	.;CAD18_HUMAN	H	424;424;424;424;424;424;370;424	ENSP00000371710:N424H;ENSP00000425093:N424H;ENSP00000274170:N424H;ENSP00000424931:N424H;ENSP00000422138:N424H;ENSP00000427383:N370H;ENSP00000425854:N424H	.	N	-	1	0	CDH18	19579855	0.993000	0.37304	0.953000	0.39169	0.895000	0.52256	2.406000	0.44557	0.331000	0.23511	0.482000	0.46254	AAT		0.333	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		G	19544098	T	G	19544098	3	3	512	1	0	0	0	0	1	0	0	0	3105	1812	63	5	1122	5	CDH18	5	19544098	Missense_Mutation	SNP	T	TCGA-CJ-4887-01A-01D-1373-10		19544098	161371162	16	27546											
PARP8	79668	hgsc.bcm.edu;ucsc.edu	37	5	50093052	50093052	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr5:50093052T>G	ENST00000281631.5	+	14	1718	c.1560T>G	c.(1558-1560)aaT>aaG	p.N520K	PARP8_ENST00000514342.2_Missense_Mutation_p.N273K|PARP8_ENST00000514067.2_Missense_Mutation_p.N520K|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.N499K|PARP8_ENST00000505697.2_Missense_Mutation_p.N520K|PARP8_ENST00000503750.2_Missense_Mutation_p.N520K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	520						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TGTTTCAAAATGGCCCTATGC	0.323																																																0													130	117	121					5																	50093052		2203	4299	6502	SO:0001583	missense	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1560T>G	5.37:g.50093052T>G	ENSP00000281631:p.Asn520Lys		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191139	0.58017	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.76	1.91	0.25777	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	L	0.43152	1.355	0.58432	D	0.999992	D;D;P	0.63880	0.993;0.989;0.826	D;D;B	0.72982	0.968;0.979;0.292	T	0.57236	-0.7846	8	.	.	.	-25.6327	9.6482	0.39881	0.0:0.1977:0.0:0.8023	.	412;520;520	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	K	520;520;273;520;520;499;273;273	.	.	N	+	3	2	PARP8	50128809	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.756000	0.38390	0.087000	0.17167	0.533000	0.62120	AAT		0.323	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		G	50093052	T	G	50093052	3	3	512	1	0	0	0	0	1	0	0	0	11467	1461	51	5	1614	5	PARP8	5	50093052	Missense_Mutation	SNP	T	TCGA-CJ-4887-01A-01D-1373-10	30548954	50093052	130822208	17	27547											
CHSY3	337876	hgsc.bcm.edu	37	5	129520699	129520699	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr5:129520699C>A	ENST00000305031.4	+	3	2222	c.1864C>A	c.(1864-1866)Cac>Aac	p.H622N		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	622					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAAGAAAGTACACATTCTCGT	0.358																																																0													66	67	66					5																	129520699		2203	4300	6503	SO:0001583	missense	337876			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1864C>A	5.37:g.129520699C>A	ENSP00000302629:p.His622Asn		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	0.264	-0.997577	0.02145	.	.	ENSG00000198108	ENST00000305031	T	0.34072	1.38	4.12	2.32	0.28847	.	0.102000	0.42548	N	0.000688	T	0.18676	0.0448	N	0.10645	0.015	0.48975	D	0.999738	B	0.15930	0.015	B	0.19946	0.027	T	0.04635	-1.0937	9	.	.	.	-9.4431	13.4712	0.61283	0.2859:0.7141:0.0:0.0	.	622	Q70JA7	CHSS3_HUMAN	N	622	ENSP00000302629:H622N	.	H	+	1	0	CHSY3	129548598	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.908000	0.56355	0.665000	0.31066	-0.133000	0.14855	CAC		0.358	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		A	129520699	C	A	129520699	3	1	512	1	0	0	0	0	1	0	0	0	3415	478	17	4	1874	4	CHSY3	5	129520699	Missense_Mutation	SNP	C	TCGA-CJ-4887-01A-01D-1373-10	79427647	129520699	51394561	18	27548											
DIAPH1	1729	hgsc.bcm.edu;ucsc.edu	37	5	140905613	140905613	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr5:140905613A>G	ENST00000398557.4	-	26	3706	c.3566T>C	c.(3565-3567)aTg>aCg	p.M1189T	DIAPH1_ENST00000518047.1_Missense_Mutation_p.M1177T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.M1186T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.M1165T|DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000389057.5_Missense_Mutation_p.M1180T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.M1132T|DIAPH1_ENST00000253811.6_Missense_Mutation_p.M1190T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.M1181T	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1189					actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGCATTCATGTCTATGAG	0.507																																																0													296	301	299					5																	140905613		2080	4218	6298	SO:0001583	missense	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3566T>C	5.37:g.140905613A>G	ENSP00000381565:p.Met1189Thr		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126435	0.56721	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.80033	-1.33;-1.32;-1.21;-1.33;-1.33;-1.33;-1.32;-1.33	5.0	5.0	0.66597	Actin-binding FH2/DRF autoregulatory (1);	0.048875	0.85682	D	0.000000	T	0.78496	0.4292	M	0.78049	2.395	0.58432	D	0.999997	P;P;P	0.48764	0.915;0.915;0.915	B;B;B	0.36244	0.169;0.22;0.22	T	0.82967	-0.0194	10	0.66056	D	0.02	.	13.9783	0.64285	1.0:0.0:0.0:0.0	.	1179;1180;1189	A0RZB8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	T	1186;1132;1165;1180;1181;1189;1190;1177	ENSP00000373706:M1186T;ENSP00000429282:M1132T;ENSP00000381570:M1165T;ENSP00000373709:M1180T;ENSP00000381572:M1181T;ENSP00000381565:M1189T;ENSP00000253811:M1190T;ENSP00000428268:M1177T	ENSP00000253811:M1190T	M	-	2	0	DIAPH1	140885797	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.959000	0.76031	1.999000	0.58509	0.533000	0.62120	ATG		0.507	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		G	140905613	A	G	140905613	3	3	512	1	0	0	0	0	1	0	0	0	4520	217	8	3	264	3	DIAPH1	5	140905613	Missense_Mutation	SNP	A	TCGA-CJ-4887-01A-01D-1373-10	11384914	140905613	40009647	19	27549											
HK3	3101	hgsc.bcm.edu	37	5	176308431	176308431	+	Silent	SNP	G	G	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr5:176308431G>T	ENST00000292432.5	-	18	2590	c.2499C>A	c.(2497-2499)tcC>tcA	p.S833S		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	833	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.S833S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCCTCTGGGACACAGCCT	0.667																																																1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)											50	54	53					5																	176308431		2203	4300	6503	SO:0001819	synonymous_variant	3101				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2499C>A	5.37:g.176308431G>T			Q8N1E7	Silent	SNP	ENST00000292432.5	37	CCDS4407.1																																																																																				0.667	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			T	176308431	G	T	176308431	2	4	512	1	0	0	0	0	0	0	0	1	7194	1219	43	4		4	HK3	5	176308431	Silent	SNP	G	TCGA-CJ-4887-01A-01D-1373-10	35402818	176308431	4606829	20	27550											
DST	667	hgsc.bcm.edu;ucsc.edu	37	6	56495059	56495059	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr6:56495059A>T	ENST00000361203.3	-	27	3639	c.3632T>A	c.(3631-3633)cTa>cAa	p.L1211Q	DST_ENST00000370769.4_Missense_Mutation_p.L1211Q|DST_ENST00000312431.6_Missense_Mutation_p.L1211Q|DST_ENST00000421834.2_Missense_Mutation_p.L1211Q|DST_ENST00000518935.1_Missense_Mutation_p.L885Q|DST_ENST00000370754.5_Missense_Mutation_p.L1389Q|DST_ENST00000244364.6_Missense_Mutation_p.L885Q|DST_ENST00000446842.2_Missense_Mutation_p.L885Q|DST_ENST00000370788.2_Missense_Mutation_p.L1211Q|DST_ENST00000370765.6_Missense_Mutation_p.L885Q			Q03001	DYST_HUMAN	dystonin	1211					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTACTTATTAGATTCTCAAT	0.313																																																0													76	79	78					6																	56495059		2202	4295	6497	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3632T>A	6.37:g.56495059A>T	ENSP00000354508:p.Leu1211Gln		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	19.53	3.845626	0.71603	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.76968	-1.06;-0.0;-0.0;0.14;0.94;-1.06;0.11;-0.02;-1.06;-1.06;-1.06;-1.06	5.9	5.9	0.94986	.	0.000000	0.42053	D	0.000775	T	0.78622	0.4312	L	0.40543	1.245	0.30725	N	0.747787	D;D;D;B;P;P;D;P	0.76494	0.99;0.999;0.996;0.129;0.508;0.841;0.99;0.57	P;D;P;B;B;P;P;B	0.85130	0.727;0.997;0.853;0.046;0.395;0.786;0.727;0.274	T	0.76269	-0.3021	9	0.25106	T	0.35	.	16.3317	0.83023	1.0:0.0:0.0:0.0	.	1211;1211;1389;885;885;885;1211;885	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	Q	885;1389;1211;1211;885;1211;1211;1211;885;1251;885;885	ENSP00000244364:L885Q;ENSP00000359790:L1389Q;ENSP00000359805:L1211Q;ENSP00000400883:L1211Q;ENSP00000393645:L885Q;ENSP00000307959:L1211Q;ENSP00000359824:L1211Q;ENSP00000354508:L1211Q;ENSP00000404924:L885Q;ENSP00000431030:L1251Q;ENSP00000359801:L885Q;ENSP00000431003:L885Q	ENSP00000244364:L885Q	L	-	2	0	DST	56603018	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.084000	0.76866	2.264000	0.75181	0.533000	0.62120	CTA		0.313	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56495059	A	T	56495059	3	4	512	1	0	0	0	0	1	0	0	0	4785	420	15	5	17773	5	DST	6	56495059	Missense_Mutation	SNP	A	TCGA-CJ-4887-01A-01D-1373-10		56495059	114620008	21	27551											
MRPL18	29074	hgsc.bcm.edu;ucsc.edu	37	6	160218373	160218373	+	Silent	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr6:160218373T>C	ENST00000367034.4	+	3	416	c.294T>C	c.(292-294)aaT>aaC	p.N98N	PNLDC1_ENST00000610273.1_5'Flank|PNLDC1_ENST00000392167.3_5'Flank|MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	98					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		AGCATCAGAATGGCAAGGTTG	0.443																																																0													136	118	124					6																	160218373		2203	4300	6503	SO:0001819	synonymous_variant	29074			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"Mitochondrial ribosomal proteins / large subunits"	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.294T>C	6.37:g.160218373T>C			Q5TAP9|Q9NZW8	Silent	SNP	ENST00000367034.4	37	CCDS5270.1																																																																																				0.443	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1			C	160218373	T	C	160218373	2	2	512	1	0	0	0	0	0	0	0	1	9785	1461	51	3		3	MRPL18	6	160218373	Silent	SNP	T	TCGA-CJ-4887-01A-01D-1373-10	103723314	160218373	10896694	22	27552											
ASL	435	hgsc.bcm.edu	37	7	65554635	65554635	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr7:65554635A>G	ENST00000304874.9	+	14	1117	c.1015A>G	c.(1015-1017)Atg>Gtg	p.M339V	ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.M339V|ASL_ENST00000380839.4_Missense_Mutation_p.M313V|AC068533.7_ENST00000450043.1_Missense_Mutation_p.Y107C|ASL_ENST00000395331.3_Missense_Mutation_p.M319V	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	339					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTCAGACACTATGAGTGCCGT	0.637																																																0													106	72	83					7																	65554635		2203	4300	6503	SO:0001583	missense	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1015A>G	7.37:g.65554635A>G	ENSP00000307188:p.Met339Val		E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	CCDS5531.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	0.419|0.419	-0.909478|-0.909478	0.02434|0.02434	.|.	.|.	ENSG00000126522|ENSG00000249319	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331|ENST00000450043	D;D;D;D|.	0.99005|.	-5.32;-5.32;-5.32;-5.32|.	5.26|5.26	1.55|1.55	0.23275|0.23275	L-Aspartase-like (1);|.	0.249082|.	0.39985|.	N|.	0.001203|.	T|T	0.07548|0.07548	0.0190|0.0190	N|N	0.00707|0.00707	-1.245|-1.245	0.28429|0.28429	N|N	0.917376|0.917376	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.35151|0.35151	-0.9800|-0.9800	10|5	0.02654|.	T|.	1|.	.|.	4.9656|4.9656	0.14089|0.14089	0.4909:0.1731:0.336:0.0|0.4909:0.1731:0.336:0.0	.|.	313;319;339|.	E9PE48;E7EMI0;P04424|.	.;.;ARLY_HUMAN|.	V|C	339;313;339;319|107	ENSP00000307188:M339V;ENSP00000370219:M313V;ENSP00000378741:M339V;ENSP00000378740:M319V|.	ENSP00000307188:M339V|.	M|Y	+|+	1|2	0|0	ASL|AC068533.7	65192070|65192070	0.924000|0.924000	0.31332|0.31332	0.998000|0.998000	0.56505|0.56505	0.841000|0.841000	0.47740|0.47740	0.733000|0.733000	0.26087|0.26087	0.308000|0.308000	0.22923|0.22923	-0.388000|-0.388000	0.06559|0.06559	ATG|TAT		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		G	65554635	A	G	65554635	3	3	512	1	0	0	0	0	1	0	0	0	1044	449	16	3	1065	3	ASL	7	65554635	Missense_Mutation	SNP	A	TCGA-CJ-4887-01A-01D-1373-10		65554635	93584028	23	27553											
ATXN7L1	222255	hgsc.bcm.edu	37	7	105254438	105254438	+	Silent	SNP	C	C	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr7:105254438C>T	ENST00000419735.3	-	10	2388	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K	ATXN7L1_ENST00000388807.4_Silent_p.K441K|ATXN7L1_ENST00000477775.1_Silent_p.K657K	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	781	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						AACTCGAGTTCTTACGCTTTT	0.512																																																0													91	83	85					7																	105254438		692	1591	2283	SO:0001819	synonymous_variant	222255			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.2343G>A	7.37:g.105254438C>T			A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	ENST00000419735.3	37	CCDS47682.1																																																																																				0.512	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			T	105254438	C	T	105254438	2	4	512	1	0	0	0	0	0	0	0	1	1216	912	32	2		2	ATXN7L1	7	105254438	Silent	SNP	C	TCGA-CJ-4887-01A-01D-1373-10	39699803	105254438	53884225	24	27554											
C8orf86	389649	hgsc.bcm.edu	37	8	38386152	38386152	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr8:38386152T>C	ENST00000358138.1	-	1	28	c.4A>G	c.(4-6)Aga>Gga	p.R2G	C8orf86_ENST00000437935.2_Missense_Mutation_p.R2G	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	2										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						CCCAGGGGTCTCATTCCCTCC	0.537																																																0													41	38	39					8																	38386152		2203	4300	6503	SO:0001583	missense	389649			BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.4A>G	8.37:g.38386152T>C	ENSP00000350856:p.Arg2Gly		A4QPB7	Missense_Mutation	SNP	ENST00000358138.1	37	CCDS6108.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.249686	0.22880	.	.	ENSG00000196166	ENST00000358138;ENST00000437935	T;T	0.56941	0.48;0.43	4.06	2.87	0.33458	.	.	.	.	.	T	0.47395	0.1443	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	D	0.66351	0.943	T	0.29212	-1.0019	9	0.87932	D	0	.	6.6861	0.23146	0.2108:0.0:0.0:0.7892	.	2	Q6ZUL3	CH086_HUMAN	G	2	ENSP00000350856:R2G;ENSP00000389615:R2G	ENSP00000350856:R2G	R	-	1	2	C8orf86	38505309	0.017000	0.18338	0.016000	0.15963	0.091000	0.18340	0.410000	0.21098	0.702000	0.31825	0.459000	0.35465	AGA		0.537	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1	NM_207412		C	38386152	T	C	38386152	3	2	512	1	0	0	0	0	1	0	0	0	2444	1559	54	3	679	3	C8orf86	8	38386152	Missense_Mutation	SNP	T	TCGA-CJ-4887-01A-01D-1373-10		38386152	107977870	25	27555											
PLAG1	5324	hgsc.bcm.edu	37	8	57079842	57079842	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr8:57079842A>T	ENST00000316981.3	-	5	942	c.463T>A	c.(463-465)Tgt>Agt	p.C155S	PLAG1_ENST00000429357.2_Missense_Mutation_p.C155S|PLAG1_ENST00000423799.2_Missense_Mutation_p.C73S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	155	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTTTGCAAACATACCTTACAG	0.463			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																		Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0													94	77	83					8																	57079842		2203	4300	6503	SO:0001583	missense	5324			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.463T>A	8.37:g.57079842A>T	ENSP00000325546:p.Cys155Ser		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504103	0.64410	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.59906	0.23;1.86;0.23	5.55	5.55	0.83447	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	H	0.96430	3.82	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.88980	0.3407	10	0.87932	D	0	-13.7054	15.6915	0.77457	1.0:0.0:0.0:0.0	.	155	Q6DJT9	PLAG1_HUMAN	S	155;73;155	ENSP00000325546:C155S;ENSP00000404067:C73S;ENSP00000416537:C155S	ENSP00000325546:C155S	C	-	1	0	PLAG1	57242396	1.000000	0.71417	0.965000	0.40720	0.986000	0.74619	9.339000	0.96797	2.097000	0.63578	0.477000	0.44152	TGT		0.463	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		T	57079842	A	T	57079842	3	4	512	1	0	0	0	0	1	0	0	0	12020	217	8	5	1043	5	PLAG1	8	57079842	Missense_Mutation	SNP	A	TCGA-CJ-4887-01A-01D-1373-10	18693690	57079842	89284180	26	27556											
PPFIA1	8500	hgsc.bcm.edu;ucsc.edu	37	11	70200406	70200406	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr11:70200406G>T	ENST00000253925.7	+	17	2378		c.e17-1		PPFIA1_ENST00000389547.3_Splice_Site|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCACCCCTCAGTTGCCACCTT	0.478																																																0													75	72	73					11																	70200406		2200	4294	6494	SO:0001630	splice_region_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2164-1G>T	11.37:g.70200406G>T			A6NLE3|Q13135|Q14567|Q8N4I2	Splice_Site	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	9.108	1.005939	0.19199	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950;ENST00000528750	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1276	0.89591	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPFIA1	69878054	1.000000	0.71417	0.983000	0.44433	0.228000	0.25075	8.413000	0.90235	2.526000	0.85167	0.561000	0.74099	.		0.478	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	Intron	T	70200406	G	T	70200406	5	4	512	1	0	0	0	0	0	0	1	0	12311	1043	36	4	2225	4	PPFIA1	11	70200406	Splice_Site	SNP	G	TCGA-CJ-4887-01A-01D-1373-10		70200406	64806110	27	27557											
TULP3	7289	hgsc.bcm.edu	37	12	3029963	3029963	+	Missense_Mutation	SNP	G	G	C	rs529548720		TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr12:3029963G>C	ENST00000448120.2	+	3	179	c.128G>C	c.(127-129)cGc>cCc	p.R43P	TULP3_ENST00000397132.2_Missense_Mutation_p.R43P	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	43	Required for association with the IFT complex A (IFT-A).				anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGGAAAAAGCGCCTTGAGCCA	0.498																																																0													99	97	97					12																	3029963		2203	4300	6503	SO:0001583	missense	7289			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.128G>C	12.37:g.3029963G>C	ENSP00000410051:p.Arg43Pro		B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474941	0.84640	.	.	ENSG00000078246	ENST00000535226;ENST00000228245;ENST00000448120;ENST00000397132	D;D	0.96041	-3.74;-3.89	5.32	5.32	0.75619	Tubby, N-terminal (1);	0.047801	0.85682	D	0.000000	D	0.97785	0.9273	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	D	0.98516	1.0621	10	0.87932	D	0	-12.3139	15.7158	0.77667	0.0:0.0:1.0:0.0	.	43;43	O75386;F8WBZ9	TULP3_HUMAN;.	P	24;43;43;43	ENSP00000410051:R43P;ENSP00000380321:R43P	ENSP00000228245:R43P	R	+	2	0	TULP3	2900224	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.565000	0.82337	2.501000	0.84356	0.655000	0.94253	CGC		0.498	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		C	3029963	G	C	3029963	3	2	512	1	0	0	0	0	1	0	0	0	16780	1087	38	4	138	4	TULP3	12	3029963	Missense_Mutation	SNP	G	TCGA-CJ-4887-01A-01D-1373-10		3029963	130821932	28	27558											
POLR3B	55703	hgsc.bcm.edu	37	12	106895189	106895189	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr12:106895189C>G	ENST00000228347.4	+	26	3295	c.3073C>G	c.(3073-3075)Cgg>Ggg	p.R1025G	POLR3B_ENST00000539066.1_Missense_Mutation_p.R967G|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1025					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TGCCCGGGCCCGGGGCCCACG	0.443																																																0													43	50	47					12																	106895189		2203	4300	6503	SO:0001583	missense	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3073C>G	12.37:g.106895189C>G	ENSP00000228347:p.Arg1025Gly		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158506	0.78114	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.73047	-0.71;-0.71	5.5	3.59	0.41128	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.88842	2.985	0.80722	D	1	P	0.50617	0.937	P	0.57425	0.82	D	0.86904	0.2056	10	0.87932	D	0	-17.1944	13.7121	0.62674	0.3991:0.6009:0.0:0.0	.	1025	Q9NW08	RPC2_HUMAN	G	1025;967	ENSP00000228347:R1025G;ENSP00000445721:R967G	ENSP00000228347:R1025G	R	+	1	2	POLR3B	105419319	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.982000	0.40638	1.281000	0.44480	0.655000	0.94253	CGG		0.443	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		G	106895189	C	G	106895189	3	3	512	1	0	0	0	0	1	0	0	0	12231	643	23	4	3175	4	POLR3B	12	106895189	Missense_Mutation	SNP	C	TCGA-CJ-4887-01A-01D-1373-10	103865226	106895189	26956706	29	27559											
C13orf18	80183	hgsc.bcm.edu;ucsc.edu	37	13	46918949	46918949	+	Silent	SNP	G	G	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr13:46918949G>A	ENST00000429979.1	-	14	2407	c.1803C>T	c.(1801-1803)ggC>ggT	p.G601G	KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550V|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000409879.2_Silent_p.G444G|KIAA0226L_ENST00000534925.1_Silent_p.G466G|KIAA0226L_ENST00000378784.4_Silent_p.G534G|KIAA0226L_ENST00000322896.6_Silent_p.G444G|KIAA0226L_ENST00000389908.3_Silent_p.G601G	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	601										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CACAAATAAAGCCCTTTCCTT	0.338																																																0													80	72	75					13																	46918949		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1803C>T	13.37:g.46918949G>A			A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990010	0.54041	.	.	ENSG00000102445	ENST00000378797;ENST00000378787	T;T	0.45276	0.9;0.9	5.93	3.18	0.36537	.	1.003200	0.08035	N	0.994137	T	0.27313	0.0670	.	.	.	0.80722	D	1	P	0.46142	0.873	B	0.36244	0.22	T	0.16188	-1.0411	9	0.34782	T	0.22	-20.6098	5.0614	0.14559	0.0752:0.1851:0.5385:0.2013	.	550	Q9H714-4	.	V	550	ENSP00000368074:A550V;ENSP00000368064:A550V	ENSP00000368064:A550V	A	-	2	0	KIAA0226L	45816950	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.351000	0.20096	1.522000	0.49001	0.591000	0.81541	GCT		0.338	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		A	46918949	G	A	46918949	2	1	512	1	0	0	0	0	0	0	0	1	1722	958	34	2		2	C13orf18	13	46918949	Silent	SNP	G	TCGA-CJ-4887-01A-01D-1373-10		46918949	68250929	30	27560											
RPAP1	26015	hgsc.bcm.edu;ucsc.edu	37	15	41810335	41810335	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr15:41810335G>C	ENST00000304330.4	-	23	3957	c.3841C>G	c.(3841-3843)Ctg>Gtg	p.L1281V	RPAP1_ENST00000561603.1_Silent_p.T1028T	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1281	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGAGGGCCAGGTTGTCTTCA	0.562																																																0													91	71	78					15																	41810335		2203	4300	6503	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3841C>G	15.37:g.41810335G>C	ENSP00000306123:p.Leu1281Val		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525697	0.64860	.	.	ENSG00000103932	ENST00000304330	T	0.12147	2.71	5.23	3.38	0.38709	.	0.000000	0.64402	D	0.000001	T	0.17746	0.0426	L	0.45228	1.405	0.39724	D	0.971514	B	0.33000	0.393	B	0.42738	0.396	T	0.05550	-1.0878	10	0.87932	D	0	-13.312	10.7754	0.46346	0.2107:0.0:0.7893:0.0	.	1281	Q9BWH6	RPAP1_HUMAN	V	1281	ENSP00000306123:L1281V	ENSP00000306123:L1281V	L	-	1	2	RPAP1	39597627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.796000	0.38794	0.793000	0.33875	0.655000	0.94253	CTG		0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		C	41810335	G	C	41810335	3	2	512	1	0	0	0	0	1	0	0	0	13547	991	35	4	352	4	RPAP1	15	41810335	Missense_Mutation	SNP	G	TCGA-CJ-4887-01A-01D-1373-10		41810335	60721057	31	27561											
TAF15	8148	hgsc.bcm.edu	37	17	34171885	34171885	+	Splice_Site	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr17:34171885C>A	ENST00000592237.1	+	18	1525	c.996C>A	c.(994-996)acC>acA	p.T332T	TAF15_ENST00000311979.3_Silent_p.R525R|TAF15_ENST00000588240.1_Silent_p.R528R			Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agACAGAAGCCGGGGGGGCTA	0.607			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																		Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	0													73	78	76					17																	34171885		2203	4300	6503	SO:0001630	splice_region_variant	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000592237.1:c.995-1C>A	17.37:g.34171885C>A			D3DPM5|Q15775|Q5T077	Silent	SNP	ENST00000592237.1	37																																																																																					0.607	TAF15-006	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000449142.1	NM_139215	Silent	A	34171885	C	A	34171885	5	1	512	1	0	0	0	0	0	0	1	0	15523	643	23	4	1640	4	TAF15	17	34171885	Splice_Site	SNP	C	TCGA-CJ-4887-01A-01D-1373-10		34171885	47023325	32	27562											
CDH19	28513	hgsc.bcm.edu;ucsc.edu	37	18	64172226	64172226	+	Silent	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr18:64172226A>G	ENST00000262150.2	-	12	2434	c.2142T>C	c.(2140-2142)ccT>ccC	p.P714P		NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGGAATCAAAAGGAGGGGCAC	0.478																																																0													123	118	120					18																	64172226		2203	4300	6503	SO:0001819	synonymous_variant	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2142T>C	18.37:g.64172226A>G			O15098	Silent	SNP	ENST00000262150.2	37	CCDS11994.1																																																																																				0.478	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		G	64172226	A	G	64172226	2	3	512	1	0	0	0	0	0	0	0	1	3106	59	3	3		3	CDH19	18	64172226	Silent	SNP	A	TCGA-CJ-4887-01A-01D-1373-10		64172226	13905022	33	27563											
C3	718	hgsc.bcm.edu;ucsc.edu	37	19	6702221	6702221	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr19:6702221A>T	ENST00000245907.6	-	19	2449	c.2357T>A	c.(2356-2358)aTc>aAc	p.I786N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	786					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTTCGTAGAGATTCTGGATGG	0.507																																																0													48	46	47					19																	6702221		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2357T>A	19.37:g.6702221A>T	ENSP00000245907:p.Ile786Asn		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592831	0.46214	.	.	ENSG00000125730	ENST00000245907	T	0.34667	1.35	5.79	5.79	0.91817	Alpha-2-macroglobulin (1);	1.457540	0.03518	N	0.220577	T	0.66626	0.2808	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.34153	-0.9840	10	0.46703	T	0.11	.	15.1124	0.72368	1.0:0.0:0.0:0.0	.	786	P01024	CO3_HUMAN	N	786	ENSP00000245907:I786N	ENSP00000245907:I786N	I	-	2	0	C3	6653221	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	4.420000	0.59841	2.208000	0.71279	0.482000	0.46254	ATC		0.507	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6702221	A	T	6702221	3	4	512	1	0	0	0	0	1	0	0	0	2206	333	12	5	2726	5	C3	19	6702221	Missense_Mutation	SNP	A	TCGA-CJ-4887-01A-01D-1373-10		6702221	52426762	34	27564											
PRODH2	58510	hgsc.bcm.edu	37	19	36303154	36303154	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr19:36303154T>C	ENST00000301175.3	-	4	637	c.620A>G	c.(619-621)aAc>aGc	p.N207S		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	207					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCACCGAGGTTCCCCTCATA	0.687																																																0													74	72	73					19																	36303154		2203	4299	6502	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.620A>G	19.37:g.36303154T>C	ENSP00000301175:p.Asn207Ser			Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604796	0.66445	.	.	ENSG00000250799	ENST00000301175	T	0.27256	1.68	5.34	5.34	0.76211	.	.	.	.	.	T	0.43299	0.1241	M	0.73962	2.25	0.80722	D	1	D	0.62365	0.991	P	0.58331	0.837	T	0.33752	-0.9856	9	0.17832	T	0.49	.	13.2741	0.60178	0.0:0.0:0.0:1.0	.	207	Q9UF12	PROD2_HUMAN	S	207	ENSP00000301175:N207S	ENSP00000301175:N207S	N	-	2	0	PRODH2	40994994	1.000000	0.71417	0.988000	0.46212	0.246000	0.25737	6.285000	0.72658	2.018000	0.59344	0.528000	0.53228	AAC		0.687	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		C	36303154	T	C	36303154	3	2	512	1	0	0	0	0	1	0	0	0	12554	1725	60	3	1022	3	PRODH2	19	36303154	Missense_Mutation	SNP	T	TCGA-CJ-4887-01A-01D-1373-10	29600933	36303154	22825829	35	27565											
ITPKC	80271	hgsc.bcm.edu	37	19	41223765	41223765	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr19:41223765C>A	ENST00000263370.2	+	1	758	c.725C>A	c.(724-726)aCa>aAa	p.T242K	ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000450541.1_5'Flank|ADCK4_ENST00000324464.3_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	242					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGTCCCTGGACAGAGCCATAT	0.493																																																0													57	58	57					19																	41223765		2203	4300	6503	SO:0001583	missense	80271			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.725C>A	19.37:g.41223765C>A	ENSP00000263370:p.Thr242Lys		Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	C	2.380	-0.342335	0.05243	.	.	ENSG00000086544	ENST00000263370	.	.	.	4.32	-3.6	0.04570	.	1.208150	0.05890	N	0.628124	T	0.15305	0.0369	N	0.14661	0.345	0.09310	N	1	B	0.26002	0.139	B	0.16722	0.016	T	0.23476	-1.0187	9	0.05959	T	0.93	0.391	6.1052	0.20069	0.0:0.2288:0.1571:0.614	.	242	Q96DU7	IP3KC_HUMAN	K	242	.	ENSP00000263370:T242K	T	+	2	0	ITPKC	45915605	0.006000	0.16342	0.002000	0.10522	0.086000	0.17979	-0.265000	0.08644	-0.413000	0.07507	0.491000	0.48974	ACA		0.493	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		A	41223765	C	A	41223765	3	1	512	1	0	0	0	0	1	0	0	0	7921	478	17	4	727	4	ITPKC	19	41223765	Missense_Mutation	SNP	C	TCGA-CJ-4887-01A-01D-1373-10	4920611	41223765	17905218	36	27566											
ETFB	2109	hgsc.bcm.edu	37	19	51850290	51850290	+	Missense_Mutation	SNP	G	G	A	rs1130426	byFrequency	TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr19:51850290G>A	ENST00000309244.4	-	5	552	c.461C>T	c.(460-462)aCg>aTg	p.T154M	ETFB_ENST00000354232.4_Missense_Mutation_p.T245M|CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.16_ENST00000594311.1_RNA|CTD-2616J11.9_ENST00000600974.1_RNA	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	154			T -> M (in dbSNP:rs1130426). {ECO:0000269|PubMed:10356313, ECO:0000269|PubMed:15498874}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		CCCCTCCAGCGTCACCTGGGA	0.617													G|||	2102	0.419728	0.472	0.451	5008	,	,		19007	0.2887		0.5686	False		,,,				2504	0.3088															0								G	MET/THR,MET/THR	2242,2164	588.3+/-386.9	549,1144,510	58	39	45		734,461	5.2	1	19	dbSNP_86	45	4805,3795	611.8+/-395.9	1350,2105,845	yes	missense,missense	ETFB	NM_001014763.1,NM_001985.2	81,81	1899,3249,1355	AA,AG,GG		44.1279,49.1148,45.8173	probably-damaging,probably-damaging	245/347,154/256	51850290	7047,5959	2203	4300	6503	SO:0001583	missense	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.461C>T	19.37:g.51850290G>A	ENSP00000311930:p.Thr154Met		A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	ENST00000309244.4	37	CCDS12828.1	1013	0.46382783882783885	241	0.4898373983739837	178	0.49171270718232046	168	0.2937062937062937	426	0.5620052770448549	G	22.0	4.229291	0.79688	0.508852	0.558721	ENSG00000105379	ENST00000309244;ENST00000354232	D;D	0.83075	-1.68;-1.68	5.2	5.2	0.72013	Electron transfer flavoprotein, alpha/beta-subunit, N-terminal (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.278610	0.35739	N	0.003016	T	0.00012	0.0000	L	0.55834	1.745	0.26377	P	0.9767906	D;D	0.76494	0.98;0.999	P;P	0.58210	0.696;0.835	T	0.49698	-0.8912	9	0.62326	D	0.03	.	11.6543	0.51309	0.0:0.0:0.8226:0.1773	rs1130426;rs1801446;rs2230253;rs3177751;rs3189246;rs17416267;rs52818865;rs60424048;rs3177751	154;245	P38117;P38117-2	ETFB_HUMAN;.	M	154;245	ENSP00000311930:T154M;ENSP00000346173:T245M	ENSP00000311930:T154M	T	-	2	0	ETFB	56542102	0.996000	0.38824	0.952000	0.39060	0.948000	0.59901	3.682000	0.54656	2.573000	0.86826	0.561000	0.74099	ACG		0.617	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464273.1			A	51850290	G	A	51850290	3	1	512	1	0	0	0	0	1	0	0	0	5272	1145	40	1	314	1	ETFB	19	51850290	Missense_Mutation	SNP	G	TCGA-CJ-4887-01A-01D-1373-10	10626525	51850290	7278693	37	27567											
COMMD7	149951	hgsc.bcm.edu;ucsc.edu	37	20	31291229	31291229	+	Silent	SNP	C	C	A			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chr20:31291229C>A	ENST00000278980.6	-	9	1163	c.558G>T	c.(556-558)ctG>ctT	p.L186L	COMMD7_ENST00000446419.2_Silent_p.L185L	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	186	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)	p.L186L(1)		breast(1)|endometrium(1)|lung(3)	5						CCATCTCGTGCAGGAAGCTGT	0.493																																																1	Substitution - coding silent(1)	lung(1)											87	91	90					20																	31291229		1928	4130	6058	SO:0001819	synonymous_variant	149951			AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 92"	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.558G>T	20.37:g.31291229C>A			A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Silent	SNP	ENST00000278980.6	37	CCDS42864.1																																																																																				0.493	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078648.2	NM_053041		A	31291229	C	A	31291229	2	1	512	1	0	0	0	0	0	0	0	1	3723	697	25	4		4	COMMD7	20	31291229	Silent	SNP	C	TCGA-CJ-4887-01A-01D-1373-10		31291229	31734291	38	27568											
KIAA2022	340533	hgsc.bcm.edu;ucsc.edu	37	X	73962408	73962408	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chrX:73962408C>T	ENST00000055682.6	-	3	2595	c.1984G>A	c.(1984-1986)Gct>Act	p.A662T		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	662					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGATTACTAGCGTGCCTCTGA	0.398																																																0													74	60	65					X																	73962408		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1984G>A	X.37:g.73962408C>T	ENSP00000055682:p.Ala662Thr		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278232	0.05679	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32988	1.43;1.43	5.97	1.31	0.21738	.	6.607850	0.00166	N	0.000000	T	0.26738	0.0654	L	0.36672	1.1	0.18873	N	0.999988	B	0.06786	0.001	B	0.06405	0.002	T	0.14727	-1.0462	10	0.31617	T	0.26	1.934	7.0346	0.24987	0.0:0.5296:0.1421:0.3282	.	662	Q5QGS0	K2022_HUMAN	T	662	ENSP00000362567:A662T;ENSP00000055682:A662T	ENSP00000055682:A662T	A	-	1	0	KIAA2022	73879133	0.740000	0.28207	0.006000	0.13384	0.124000	0.20399	1.216000	0.32443	-0.173000	0.10761	0.600000	0.82982	GCT		0.398	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		T	73962408	C	T	73962408	3	4	512	1	0	0	0	0	1	0	0	0	8271	768	27	1	2574	1	KIAA2022	23	73962408	Missense_Mutation	SNP	C	TCGA-CJ-4887-01A-01D-1373-10		73962408	81308152	39	27569											
CXorf48	54967	hgsc.bcm.edu	37	X	134292203	134292203	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4887-01A-01D-1373-10	TCGA-CJ-4887-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	612c63e4-c8ab-41a5-ba46-d35277407b12	0a088b77-d040-40f2-8471-74d732939d26	g.chrX:134292203A>G	ENST00000276241.6	-	4	684	c.458T>C	c.(457-459)gTt>gCt	p.V153A	CXorf48_ENST00000344129.2_Missense_Mutation_p.V153A	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		153										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GGAATATTCAACTTCTAACAA	0.398																																																0													107	95	99					X																	134292203		2203	4300	6503	SO:0001583	missense	54967																														ENST00000276241.6:c.458T>C	X.37:g.134292203A>G	ENSP00000276241:p.Val153Ala		Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	37	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	a	0.010	-1.768313	0.00645	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.30182	1.54;1.54	2.21	0.942	0.19525	.	0.817597	0.09988	N	0.730120	T	0.11110	0.0271	N	0.04508	-0.205	0.09310	N	1	P	0.40578	0.722	B	0.38296	0.27	T	0.11203	-1.0597	10	0.09843	T	0.71	-18.447	4.2139	0.10524	0.4847:0.0:0.5153:0.0	.	153	Q8WUE5	CX048_HUMAN	A	153	ENSP00000276241:V153A;ENSP00000343893:V153A	ENSP00000276241:V153A	V	-	2	0	CXorf48	134119869	0.971000	0.33674	0.001000	0.08648	0.011000	0.07611	1.791000	0.38744	0.177000	0.19895	0.231000	0.17811	GTT		0.398	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			G	134292203	A	G	134292203	3	3	512	1	0	0	0	0	1	0	0	0	4113	43	2	3	352	3	CXorf48	23	134292203	Missense_Mutation	SNP	A	TCGA-CJ-4887-01A-01D-1373-10	60329795	134292203	20978357	40	27570											
C1orf86	199990	hgsc.bcm.edu	37	1	2121164	2121164	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr1:2121164T>G	ENST00000378546.4	-	4	551	c.527A>C	c.(526-528)gAa>gCa	p.E176A	C1orf86_ENST00000378545.3_Missense_Mutation_p.E279A|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR|AL590822.2_ENST00000597060.1_5'Flank	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	176				ED -> KN (in Ref. 2; AAQ04817). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGTCACGTCTTCTGTGCTTTC	0.697																																																0													69	55	59					1																	2121164		2203	4300	6503	SO:0001583	missense	199990			AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.527A>C	1.37:g.2121164T>G	ENSP00000367808:p.Glu176Ala		A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000378546.4	37	CCDS38.2	.	.	.	.	.	.	.	.	.	.	T	14.35	2.509474	0.44660	.	.	ENSG00000162585	ENST00000378546;ENST00000378545	T;T	0.54071	0.64;0.59	5.55	5.55	0.83447	.	0.935050	0.08854	N	0.884017	T	0.59689	0.2212	.	.	.	0.09310	N	1	D	0.54207	0.965	P	0.50970	0.655	T	0.52200	-0.8607	9	0.62326	D	0.03	-4.7049	10.2007	0.43082	0.1483:0.0:0.0:0.8517	.	176	Q6NZ36	CA086_HUMAN	A	176;279	ENSP00000367808:E176A;ENSP00000367807:E279A	ENSP00000367807:E279A	E	-	2	0	C1orf86	2111024	0.192000	0.23301	0.019000	0.16419	0.051000	0.14879	1.753000	0.38359	2.124000	0.65301	0.374000	0.22700	GAA		0.697	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1	NM_182533		G	2121164	T	G	2121164	3	3	513	1	0	0	0	0	1	0	0	0	2065	1783	62	5	259	5	C1orf86	1	2121164	Missense_Mutation	SNP	T	TCGA-CJ-4888-01A-01D-1373-10		2121164	247129457	1	27571											
SULT1C2	6819	hgsc.bcm.edu	37	2	108910186	108910186	+	Silent	SNP	G	G	T			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr2:108910186G>T	ENST00000437390.2	+	2	240	c.63G>T	c.(61-63)ctG>ctT	p.L21L	SULT1C2_ENST00000492554.1_3'UTR|SULT1C2_ENST00000409880.1_Silent_p.L21L|SULT1C2_ENST00000326853.5_Silent_p.L21L|SULT1C2_ENST00000251481.6_Silent_p.L21L			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	27					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGACCCTCCTGCAGCCTGCAA	0.542																																																0													85	77	79					2																	108910186		2203	4300	6503	SO:0001819	synonymous_variant	6819			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"Sulfotransferases, cytosolic"	11456	protein-coding gene	gene with protein product		602385	"sulfotransferase family, cytosolic, 1C, member 1"	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.63G>T	2.37:g.108910186G>T			Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000437390.2	37		.	.	.	.	.	.	.	.	.	.	G	4.647	0.120256	0.08881	.	.	ENSG00000198203	ENST00000409067	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.71367	0.3331	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70710	-0.4797	4	.	.	.	.	15.7356	0.77839	0.0:0.0:1.0:0.0	.	.	.	.	S	18	.	.	A	+	1	0	SULT1C2	108276618	0.000000	0.05858	0.736000	0.30914	0.395000	0.30598	0.245000	0.18142	2.300000	0.77407	0.561000	0.74099	GCA		0.542	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		T	108910186	G	T	108910186	2	4	513	1	0	0	0	0	0	0	0	1	15382	1306	46	4		4	SULT1C2	2	108910186	Silent	SNP	G	TCGA-CJ-4888-01A-01D-1373-10		108910186	134289187	2	27572											
OSGEPL1	64172	hgsc.bcm.edu	37	2	190618708	190618708	+	Missense_Mutation	SNP	T	T	G	rs550461835		TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr2:190618708T>G	ENST00000264151.5	-	5	999	c.897A>C	c.(895-897)aaA>aaC	p.K299N	Y_RNA_ENST00000411317.1_RNA|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.K299N|OSGEPL1_ENST00000519810.1_Missense_Mutation_p.K299N	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GATGTGTTCTTTTCACAAGAT	0.403																																																0													71	70	70					2																	190618708		1915	4122	6037	SO:0001583	missense	64172			AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.897A>C	2.37:g.190618708T>G	ENSP00000264151:p.Lys299Asn			Missense_Mutation	SNP	ENST00000264151.5	37	CCDS46472.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.313788	0.23908	.	.	ENSG00000128694	ENST00000264151;ENST00000519810;ENST00000522700;ENST00000520350	T;T;T;T	0.43688	2.36;2.36;2.36;0.94	5.2	1.58	0.23477	Peptidase M22, glycoprotease (1);	0.184523	0.56097	D	0.000021	T	0.31327	0.0793	L	0.40543	1.245	0.40436	D	0.979999	P	0.43885	0.82	B	0.43445	0.42	T	0.06552	-1.0820	10	0.18276	T	0.48	-19.4995	8.0405	0.30519	0.0:0.4888:0.0:0.5112	.	299	Q9H4B0	OSGP2_HUMAN	N	299;299;299;152	ENSP00000264151:K299N;ENSP00000428859:K299N;ENSP00000429697:K299N;ENSP00000430062:K152N	ENSP00000264151:K299N	K	-	3	2	OSGEPL1	190326953	0.983000	0.35010	0.970000	0.41538	0.375000	0.29983	0.218000	0.17622	0.187000	0.20147	-0.256000	0.11100	AAA		0.403	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377257.1	NM_022353		G	190618708	T	G	190618708	3	3	513	1	0	0	0	0	1	0	0	0	11290	1838	64	5	363	5	OSGEPL1	2	190618708	Missense_Mutation	SNP	T	TCGA-CJ-4888-01A-01D-1373-10	81708522	190618708	52580665	3	27573											
ADAM23	8745	hgsc.bcm.edu	37	2	207424812	207424812	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr2:207424812A>T	ENST00000264377.3	+	11	1467	c.1139A>T	c.(1138-1140)aAg>aTg	p.K380M	ADAM23_ENST00000374415.3_Missense_Mutation_p.K380M|ADAM23_ENST00000374416.1_Missense_Mutation_p.K380M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	380	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAGCGCATTAAGCAGCATGCT	0.473																																					Melanoma(194;1127 2130 19620 24042 27855)											0													116	91	99					2																	207424812		2203	4300	6503	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1139A>T	2.37:g.207424812A>T	ENSP00000264377:p.Lys380Met		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762270	0.49468	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.09255	3.0;3.0;3.0	5.64	3.15	0.36227	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.189972	0.36134	N	0.002764	T	0.25494	0.0620	L	0.60455	1.87	0.43536	D	0.99582	D	0.57899	0.981	D	0.64321	0.924	T	0.00127	-1.2019	10	0.87932	D	0	.	12.0194	0.53333	0.8639:0.0:0.1361:0.0	.	380	O75077	ADA23_HUMAN	M	380;380;274;380	ENSP00000264377:K380M;ENSP00000363537:K380M;ENSP00000363536:K380M	ENSP00000264377:K380M	K	+	2	0	ADAM23	207133057	1.000000	0.71417	0.988000	0.46212	0.716000	0.41182	4.139000	0.58024	0.052000	0.16007	-1.447000	0.01057	AAG		0.473	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		T	207424812	A	T	207424812	3	4	513	1	0	0	0	0	1	0	0	0	245	72	3	5	1181	5	ADAM23	2	207424812	Missense_Mutation	SNP	A	TCGA-CJ-4888-01A-01D-1373-10	16806104	207424812	35774561	4	27574											
PBRM1	55193	ucsc.edu	37	3	52613194	52613194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr3:52613194C>A	ENST00000296302.7	-	21	3410	c.3409G>T	c.(3409-3411)Gaa>Taa	p.E1137*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E1112*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E1152*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E1112*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E1105*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E1152*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E1137*|SMIM4_ENST00000476842.1_3'UTR|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E1137*			Q86U86	PB1_HUMAN	polybromo 1	1137					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTGGACATTTCCACAGGGACA	0.428			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													147	129	135					3																	52613194		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3409G>T	3.37:g.52613194C>A	ENSP00000296302:p.Glu1137*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	40	8.411560	0.98799	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.82	5.82	0.92795	.	0.110831	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-17.1487	20.089	0.97809	0.0:1.0:0.0:0.0	.	.	.	.	X	1105;1112;1137;1137;1137;1112;1152;1152;1136	.	ENSP00000296302:E1137X	E	-	1	0	PBRM1	52588234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.760000	0.85248	2.765000	0.95021	0.591000	0.81541	GAA		0.428	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52613194	C	A	52613194	4	1	513	1	0	0	0	0	0	1	0	0	11493	864	30	4	1531	4	PBRM1	3	52613194	Nonsense_Mutation	SNP	C	TCGA-CJ-4888-01A-01D-1373-10		52613194	145409236	5	27575											
TACC3	10460	hgsc.bcm.edu	37	4	1738986	1738986	+	Silent	SNP	G	G	A			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr4:1738986G>A	ENST00000313288.4	+	9	1873	c.1767G>A	c.(1765-1767)gaG>gaA	p.E589E		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	589					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GTGCAAATGAGACTCCCTCAG	0.547																																					Ovarian(120;482 2294 11894 35824)											0													126	109	115					4																	1738986		2203	4300	6503	SO:0001819	synonymous_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1767G>A	4.37:g.1738986G>A			Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	CCDS3352.1																																																																																				0.547	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			A	1738986	G	A	1738986	2	1	513	1	0	0	0	0	0	0	0	1	15508	933	33	2		2	TACC3	4	1738986	Silent	SNP	G	TCGA-CJ-4888-01A-01D-1373-10		1738986	189415290	6	27576											
GPR78	27201	hgsc.bcm.edu	37	4	8582799	8582799	+	Silent	SNP	C	C	T	rs138084089	byFrequency	TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr4:8582799C>T	ENST00000382487.4	+	1	507	c.90C>T	c.(88-90)tgC>tgT	p.C30C	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	30					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C30C(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGCTTTGTTGCGCCTACAGCG	0.677																																																1	Substitution - coding silent(1)	central_nervous_system(1)						C		4,4400	8.1+/-20.4	0,4,2198	35	38	37		90	0.7	0.8	4	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous	GPR78	NM_080819.2		0,4,6498	TT,TC,CC		0.0,0.0908,0.0308		30/364	8582799	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.90C>T	4.37:g.8582799C>T			Q8NGV3	Silent	SNP	ENST00000382487.4	37	CCDS3403.1																																																																																				0.677	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			T	8582799	C	T	8582799	2	4	513	1	0	0	0	0	0	0	0	1	6712	776	27	1		1	GPR78	4	8582799	Silent	SNP	C	TCGA-CJ-4888-01A-01D-1373-10	6843813	8582799	182571477	7	27577											
TRYX3	136541	hgsc.bcm.edu	37	7	141952104	141952104	+	Silent	SNP	A	A	T			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr7:141952104A>T	ENST00000552471.1	-	5	982	c.663T>A	c.(661-663)gtT>gtA	p.V221V	PRSS58_ENST00000547058.2_Silent_p.V221V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	221	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CATAGATGCCAACATCGGCTC	0.443																																																0													63	69	67					7																	141952104		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.663T>A	7.37:g.141952104A>T			B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	CCDS5871.1																																																																																				0.443	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		T	141952104	A	T	141952104	2	4	513	1	0	0	0	0	0	0	0	1	16609	117	5	5		5	TRYX3	7	141952104	Silent	SNP	A	TCGA-CJ-4888-01A-01D-1373-10		141952104	17186559	8	27578											
NOTCH1	4851	hgsc.bcm.edu	37	9	139391324	139391324	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr9:139391324G>C	ENST00000277541.6	-	34	6942	c.6867C>G	c.(6865-6867)agC>agG	p.S2289R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2289					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S2290R(1)|p.K2182fs*61(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCCTCCGCTGCTGGAGCCCA	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	2	Substitution - Missense(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)											22	27	25					9																	139391324		2038	4168	6206	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6867C>G	9.37:g.139391324G>C	ENSP00000277541:p.Ser2289Arg		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.961759	0.00461	.	.	ENSG00000148400	ENST00000277541	D	0.82081	-1.57	3.67	-3.83	0.04269	.	1.751630	0.03507	N	0.219026	T	0.69043	0.3067	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.24006	0.05	T	0.55661	-0.8106	10	0.25106	T	0.35	.	9.9064	0.41379	0.6686:0.0:0.3314:0.0	.	2289	P46531	NOTC1_HUMAN	R	2289	ENSP00000277541:S2289R	ENSP00000277541:S2289R	S	-	3	2	NOTCH1	138511145	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.518000	0.06267	-0.866000	0.04068	-0.142000	0.14014	AGC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		C	139391324	G	C	139391324	3	2	513	1	0	0	0	0	1	0	0	0	10549	1310	46	4	804	4	NOTCH1	9	139391324	Missense_Mutation	SNP	G	TCGA-CJ-4888-01A-01D-1373-10		139391324	1822107	9	27579											
SLC22A18	5002	hgsc.bcm.edu	37	11	2946407	2946407	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr11:2946407A>G	ENST00000380574.1	+	11	1686	c.1255A>G	c.(1255-1257)Agg>Ggg	p.R419G	SLC22A18_ENST00000347936.2_Missense_Mutation_p.R419G|SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000449793.2_Missense_Mutation_p.R321G|SLC22A18_ENST00000312221.5_Missense_Mutation_p.R419G			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	419					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)	p.R419W(1)		central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TATGCCCCAGAGGAAGGACAA	0.582																																																1	Substitution - Missense(1)	ovary(1)											73	63	66					11																	2946407		2202	4299	6501	SO:0001583	missense	5002			AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"Solute carriers"	10964	protein-coding gene	gene with protein product		602631	"solute carrier family 22 (organic cation transporter), member 1-like"	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.1255A>G	11.37:g.2946407A>G	ENSP00000369948:p.Arg419Gly		O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	ENST00000380574.1	37	CCDS7740.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110324	0.37242	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.65	-0.429	0.12303	Major facilitator superfamily domain, general substrate transporter (1);	0.927475	0.09025	N	0.859547	T	0.73118	0.3546	L	0.29908	0.895	0.09310	N	1	P;B	0.38677	0.642;0.425	B;B	0.40741	0.339;0.131	T	0.63251	-0.6679	10	0.72032	D	0.01	-11.6071	4.8757	0.13655	0.6114:0.1478:0.2408:0.0	.	321;419	E9PRM7;Q96BI1	.;S22AI_HUMAN	G	419;419;321;419	ENSP00000307859:R419G;ENSP00000311139:R419G;ENSP00000392072:R321G;ENSP00000369948:R419G	ENSP00000311139:R419G	R	+	1	2	SLC22A18	2902983	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	1.040000	0.30278	-0.104000	0.12154	-0.375000	0.07067	AGG		0.582	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1	NM_183233		G	2946407	A	G	2946407	3	3	513	1	0	0	0	0	1	0	0	0	14455	295	11	3	1293	3	SLC22A18	11	2946407	Missense_Mutation	SNP	A	TCGA-CJ-4888-01A-01D-1373-10		2946407	132060109	10	27580											
F2	2147	hgsc.bcm.edu	37	11	46751085	46751085	+	Missense_Mutation	SNP	G	G	T	rs143064939	byFrequency	TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr11:46751085G>T	ENST00000311907.5	+	12	1684	c.1628G>T	c.(1627-1629)cGc>cTc	p.R543L	F2_ENST00000530231.1_Missense_Mutation_p.R504L	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	543	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	ACCCGGATCCGCATCACTGAC	0.612													G|||	6	0.00119808	0.0	0.0086	5008	,	,		18272	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(147;1147 1808 2148 38609 51144)											0								G	LEU/ARG	4,4398	8.1+/-20.4	0,4,2197	89	75	80		1628	3.2	1	11	dbSNP_134	80	1,8597	1.2+/-3.3	0,1,4298	yes	missense	F2	NM_000506.3	102	0,5,6495	TT,TG,GG		0.0116,0.0909,0.0385	probably-damaging	543/623	46751085	5,12995	2201	4299	6500	SO:0001583	missense	2147			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1628G>T	11.37:g.46751085G>T	ENSP00000308541:p.Arg543Leu		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	CCDS31476.1	6	0.0027472527472527475	0	0.0	6	0.016574585635359115	0	0.0	0	0.0	G	21.9	4.219651	0.79464	9.09E-4	1.16E-4	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.89123	-2.47;-2.47	5.46	3.21	0.36854	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.210302	0.44902	D	0.000418	T	0.73040	0.3536	N	0.05158	-0.105	0.38187	D	0.93979	D	0.59357	0.985	P	0.62560	0.904	T	0.80596	-0.1312	10	0.87932	D	0	.	4.3614	0.11205	0.4473:0.0:0.5527:0.0	.	543	P00734	THRB_HUMAN	L	543;504	ENSP00000308541:R543L;ENSP00000433907:R504L	ENSP00000308541:R543L	R	+	2	0	F2	46707661	0.931000	0.31567	0.986000	0.45419	0.961000	0.63080	1.506000	0.35747	1.438000	0.47492	0.655000	0.94253	CGC		0.612	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			T	46751085	G	T	46751085	3	4	513	1	0	0	0	0	1	0	0	0	5344	1087	38	4	1674	4	F2	11	46751085	Missense_Mutation	SNP	G	TCGA-CJ-4888-01A-01D-1373-10	43804678	46751085	88255431	11	27581											
TMEM132B	114795	hgsc.bcm.edu	37	12	126137053	126137053	+	Missense_Mutation	SNP	A	A	G	rs61940805	byFrequency	TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr12:126137053A>G	ENST00000299308.3	+	8	1974	c.1966A>G	c.(1966-1968)Acc>Gcc	p.T656A	TMEM132B_ENST00000535886.1_Missense_Mutation_p.T168A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	656						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGACCGAGTCACCATCGCGGA	0.587																																																0													44	47	46					12																	126137053		2095	4237	6332	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1966A>G	12.37:g.126137053A>G	ENSP00000299308:p.Thr656Ala		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898243	0.33535	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13089	2.62;2.62	5.53	4.39	0.52855	.	0.000000	0.64402	D	0.000002	T	0.12944	0.0314	L	0.49778	1.585	0.46028	D	0.998823	B	0.28350	0.208	B	0.23574	0.047	T	0.04153	-1.0973	10	0.56958	D	0.05	.	8.505	0.33181	0.8512:0.0:0.1488:0.0	rs61940805	656	Q14DG7	T132B_HUMAN	A	656;168	ENSP00000299308:T656A;ENSP00000440436:T168A	ENSP00000299308:T656A	T	+	1	0	TMEM132B	124703006	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	4.863000	0.62983	0.927000	0.37143	0.533000	0.62120	ACC		0.587	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		G	126137053	A	G	126137053	3	3	513	1	0	0	0	0	1	0	0	0	16051	159	6	3	1996	3	TMEM132B	12	126137053	Missense_Mutation	SNP	A	TCGA-CJ-4888-01A-01D-1373-10		126137053	7714842	12	27582											
APLP1	333	hgsc.bcm.edu	37	19	36370070	36370070	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr19:36370070T>G	ENST00000221891.4	+	16	2000	c.1808T>G	c.(1807-1809)cTc>cGc	p.L603R	APLP1_ENST00000586861.1_Missense_Mutation_p.L596R|APLP1_ENST00000537454.2_Missense_Mutation_p.L563R|RN7SL402P_ENST00000465059.1_RNA	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	602					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCATGCTGCTCCTGCGCAGG	0.652																																																0													58	59	59					19																	36370070		2203	4300	6503	SO:0001583	missense	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1808T>G	19.37:g.36370070T>G	ENSP00000221891:p.Leu603Arg		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189023	0.78789	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.96856	-4.15;-4.15	5.06	5.06	0.68205	Beta-amyloid precursor protein C-terminal (1);	0.451078	0.16367	N	0.217504	D	0.96929	0.8997	L	0.50333	1.59	0.52501	D	0.999959	D;D;D;D	0.76494	0.996;0.997;0.999;0.999	D;D;D;D	0.71184	0.948;0.956;0.965;0.972	D	0.96565	0.9418	10	0.87932	D	0	-19.6582	11.2346	0.48933	0.0:0.0:0.0:1.0	.	596;563;603;602	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	R	563;603	ENSP00000441501:L563R;ENSP00000221891:L603R	ENSP00000221891:L603R	L	+	2	0	APLP1	41061910	1.000000	0.71417	0.955000	0.39395	0.947000	0.59692	6.769000	0.74985	1.893000	0.54813	0.533000	0.62120	CTC		0.652	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		G	36370070	T	G	36370070	3	3	513	1	0	0	0	0	1	0	0	0	778	1551	54	5	1870	5	APLP1	19	36370070	Missense_Mutation	SNP	T	TCGA-CJ-4888-01A-01D-1373-10		36370070	22758913	13	27583											
ODZ1	10178	hgsc.bcm.edu	37	X	123554562	123554562	+	Silent	SNP	G	G	A			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chrX:123554562G>A	ENST00000371130.3	-	24	4623	c.4560C>T	c.(4558-4560)acC>acT	p.T1520T	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.T1527T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1520					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCTGCTGATGGTACGAATTC	0.488																																																0													138	111	121					X																	123554562		2203	4300	6503	SO:0001819	synonymous_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4560C>T	X.37:g.123554562G>A			B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																				0.488	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123554562	G	A	123554562	2	1	513	1	0	0	0	0	0	0	0	1	10836	1335	47	2		2	ODZ1	23	123554562	Silent	SNP	G	TCGA-CJ-4888-01A-01D-1373-10		123554562	31715998	14	27584											
PEAR1	375033	hgsc.bcm.edu	37	1	156878751	156878751	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr1:156878751T>A	ENST00000338302.3	+	12	1559	c.1334T>A	c.(1333-1335)gTc>gAc	p.V445D	PEAR1_ENST00000292357.7_Missense_Mutation_p.V445D			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	445					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCTACGGTGTCAACTGTTCT	0.587																																																0													111	89	96					1																	156878751		2203	4300	6503	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1334T>A	1.37:g.156878751T>A	ENSP00000344465:p.Val445Asp		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	T	4.878	0.163125	0.09287	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.37584	1.19;1.19	4.87	1.21	0.21127	.	0.682578	0.12749	N	0.442376	T	0.05227	0.0139	N	0.12831	0.26	0.09310	N	0.99999	P	0.37176	0.586	B	0.28849	0.095	T	0.30937	-0.9961	10	0.20519	T	0.43	.	7.2712	0.26258	0.0:0.3762:0.0:0.6238	.	445	Q5VY43	PEAR1_HUMAN	D	445	ENSP00000344465:V445D;ENSP00000292357:V445D	ENSP00000292357:V445D	V	+	2	0	PEAR1	155145375	0.009000	0.17119	0.802000	0.32245	0.364000	0.29643	0.594000	0.24014	0.347000	0.23924	0.460000	0.39030	GTC		0.587	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		A	156878751	T	A	156878751	3	1	514	1	0	0	0	0	1	0	0	0	11714	1667	58	5	1372	5	PEAR1	1	156878751	Missense_Mutation	SNP	T	TCGA-CJ-4889-01A-01D-1373-10		156878751	92371870	1	27585											
C2orf78	388960	hgsc.bcm.edu	37	2	74042659	74042659	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr2:74042659T>C	ENST00000409561.1	+	3	1430	c.1309T>C	c.(1309-1311)Tct>Cct	p.S437P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	437										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGGGATTGAGTCTAGCAGTGA	0.468																																																0													54	53	53					2																	74042659		1927	4132	6059	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1309T>C	2.37:g.74042659T>C	ENSP00000387124:p.Ser437Pro			Missense_Mutation	SNP	ENST00000409561.1	37	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.978871	0.53720	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.48	-1.33	0.09172	.	0.743493	0.11987	N	0.510201	T	0.34832	0.0911	L	0.41236	1.265	0.09310	N	1	D	0.60575	0.988	P	0.54372	0.75	T	0.24119	-1.0169	9	0.34782	T	0.22	-0.2797	6.03	0.19675	0.0:0.1759:0.4987:0.3254	.	437	A6NCI8	CB078_HUMAN	P	437;427	.	ENSP00000340692:S427P	S	+	1	0	C2orf78	73896167	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.175000	0.09825	0.113000	0.18004	0.533000	0.62120	TCT		0.468	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		C	74042659	T	C	74042659	3	2	514	1	0	0	0	0	1	0	0	0	2197	1667	58	3	1319	3	C2orf78	2	74042659	Missense_Mutation	SNP	T	TCGA-CJ-4889-01A-01D-1373-10		74042659	169156714	2	27586											
ZC3H15	55854	hgsc.bcm.edu	37	2	187367291	187367291	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr2:187367291A>T	ENST00000337859.6	+	5	738	c.511A>T	c.(511-513)Aag>Tag	p.K171*	AC018867.2_ENST00000595956.1_Silent_p.L22L|ZC3H15_ENST00000544130.1_Intron|ZC3H15_ENST00000468120.1_Intron	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	171					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGAGGCGGAAAAGAAAAAACC	0.333																																																0													83	89	87					2																	187367291		1831	4091	5922	SO:0001587	stop_gained	55854				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.511A>T	2.37:g.187367291A>T	ENSP00000338788:p.Lys171*		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Nonsense_Mutation	SNP	ENST00000337859.6	37	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	A	37	6.448093	0.97577	.	.	ENSG00000065548	ENST00000337859;ENST00000536434	.	.	.	5.95	4.76	0.60689	.	0.042082	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.098	12.6095	0.56544	0.8762:0.0:0.0:0.1238	.	.	.	.	X	171	.	ENSP00000338788:K171X	K	+	1	0	ZC3H15	187075536	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.612000	0.74187	2.279000	0.76181	0.533000	0.62120	AAG		0.333	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		T	187367291	A	T	187367291	4	4	514	1	0	0	0	0	0	1	0	0	17572	15	1	5	529	5	ZC3H15	2	187367291	Nonsense_Mutation	SNP	A	TCGA-CJ-4889-01A-01D-1373-10	113324632	187367291	55832082	3	27587											
ADH1A	124	hgsc.bcm.edu	37	4	100205662	100205662	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr4:100205662T>A	ENST00000209668.2	-	5	574	c.461A>T	c.(460-462)gAt>gTt	p.D154V	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'Flank	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	154					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TGCATTTTCATCCACCACTGT	0.517																																																0													91	87	88					4																	100205662		2203	4300	6503	SO:0001583	missense	124			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.461A>T	4.37:g.100205662T>A	ENSP00000209668:p.Asp154Val		A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	T	5.104	0.204763	0.09704	.	.	ENSG00000187758	ENST00000209668	T	0.05199	3.48	2.59	2.59	0.31030	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.525025	0.20493	N	0.091241	T	0.19005	0.0456	M	0.74389	2.26	0.41537	D	0.988491	D	0.60575	0.988	D	0.66084	0.941	T	0.00865	-1.1535	10	0.49607	T	0.09	-14.4789	8.4397	0.32808	0.0:0.0:0.2153:0.7847	.	154	P07327	ADH1A_HUMAN	V	154	ENSP00000209668:D154V	ENSP00000209668:D154V	D	-	2	0	ADH1A	100424685	0.000000	0.05858	0.969000	0.41365	0.077000	0.17291	0.127000	0.15790	1.174000	0.42811	0.377000	0.23210	GAT		0.517	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		A	100205662	T	A	100205662	3	1	514	1	0	0	0	0	1	0	0	0	307	1435	50	5	686	5	ADH1A	4	100205662	Missense_Mutation	SNP	T	TCGA-CJ-4889-01A-01D-1373-10		100205662	90948614	4	27588											
TMEM161B	153396	hgsc.bcm.edu	37	5	87516401	87516401	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr5:87516401A>G	ENST00000296595.6	-	5	549	c.425T>C	c.(424-426)cTa>cCa	p.L142P	TMEM161B_ENST00000509387.1_Missense_Mutation_p.L15P|TMEM161B_ENST00000514135.1_Missense_Mutation_p.L142P|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.L131P|TMEM161B_ENST00000511218.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	142						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CAAAACAAGTAGGCACCAGAC	0.333																																																0													63	70	68					5																	87516401		2203	4300	6503	SO:0001583	missense	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.425T>C	5.37:g.87516401A>G	ENSP00000296595:p.Leu142Pro		Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418039	0.83449	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.74	5.74	0.90152	.	0.137235	0.50627	D	0.000106	T	0.72819	0.3508	L	0.55213	1.73	0.80722	D	1	D	0.56287	0.975	P	0.59424	0.857	T	0.74743	-0.3562	9	0.59425	D	0.04	-6.7827	16.0294	0.80567	1.0:0.0:0.0:0.0	.	142	Q8NDZ6	T161B_HUMAN	P	142;142;131;142;15	.	ENSP00000296595:L142P	L	-	2	0	TMEM161B	87552157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.190000	0.69967	0.477000	0.44152	CTA		0.333	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		G	87516401	A	G	87516401	3	3	514	1	0	0	0	0	1	0	0	0	16082	420	15	3	1070	3	TMEM161B	5	87516401	Missense_Mutation	SNP	A	TCGA-CJ-4889-01A-01D-1373-10		87516401	93398859	5	27589											
TAF6	6878	hgsc.bcm.edu	37	7	99705041	99705041	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr7:99705041G>A	ENST00000344095.4	-	15	2387	c.1862C>T	c.(1861-1863)cCc>cTc	p.P621L	AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Missense_Mutation_p.P545L|TAF6_ENST00000437822.2_Missense_Mutation_p.P658L|TAF6_ENST00000453269.2_Missense_Mutation_p.P621L|TAF6_ENST00000472509.1_Missense_Mutation_p.P678L|TAF6_ENST00000452041.1_Missense_Mutation_p.P621L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	621					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGGGAGGTGGGGCCTCCTTT	0.667																																																0													75	81	79					7																	99705041		2203	4300	6503	SO:0001583	missense	6878				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1862C>T	7.37:g.99705041G>A	ENSP00000344537:p.Pro621Leu		A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	g	9.576	1.122430	0.20877	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.45276	0.93;0.9;0.93;0.93;0.92	5.51	4.64	0.57946	.	0.653636	0.15032	N	0.284401	T	0.20820	0.0501	N	0.08118	0	0.35393	D	0.790946	B;B;B;B;B	0.23377	0.084;0.051;0.03;0.03;0.084	B;B;B;B;B	0.23419	0.021;0.046;0.021;0.012;0.021	T	0.21793	-1.0235	10	0.15499	T	0.54	-21.5397	7.211	0.25933	0.0841:0.0:0.7485:0.1674	.	658;611;611;621;545	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	L	621;678;621;621;545;658	ENSP00000389575:P621L;ENSP00000419760:P678L;ENSP00000416396:P621L;ENSP00000344537:P621L;ENSP00000399982:P658L	ENSP00000344537:P621L	P	-	2	0	TAF6	99542977	0.999000	0.42202	0.593000	0.28771	0.304000	0.27724	3.361000	0.52306	1.566000	0.49654	0.639000	0.83563	CCC		0.667	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		A	99705041	G	A	99705041	3	1	514	1	0	0	0	0	1	0	0	0	15535	1232	43	2	175	2	TAF6	7	99705041	Missense_Mutation	SNP	G	TCGA-CJ-4889-01A-01D-1373-10		99705041	59433622	6	27590											
TCEB1	6921	ucsc.edu	37	8	74858968	74858968	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	T	G	T	T	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr8:74858968T>G	ENST00000522337.1	-	5	555	c.236A>C	c.(235-237)tAc>tCc	p.Y79S	TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000519487.1_Missense_Mutation_p.Y79S|TCEB1_ENST00000520210.1_Missense_Mutation_p.Y63S|TCEB1_ENST00000518127.1_Missense_Mutation_p.Y79S|TCEB1_ENST00000520242.1_Missense_Mutation_p.Y79S|TCEB1_ENST00000284811.8_Missense_Mutation_p.Y79S|TCEB1_ENST00000523815.1_Missense_Mutation_p.Y79S			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	79					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.Y79F(1)|p.Y79L(1)		endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GCGAACCTTGTACGTAAAATA	0.413																																																2	Substitution - Missense(2)	kidney(2)											95	77	83					8																	74858968		2203	4300	6503	SO:0001583	missense	6921			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.236A>C	8.37:g.74858968T>G	ENSP00000429906:p.Tyr79Ser		E5RGD9|Q567Q6	Missense_Mutation	SNP	ENST00000522337.1	37	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389998	0.82902	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.66	5.66	0.87406	BTB/POZ fold (2);	0.000000	0.48286	D	0.000198	T	0.72162	0.3426	M	0.91038	3.17	0.80722	D	1	P	0.39520	0.676	P	0.61132	0.884	T	0.76995	-0.2752	10	0.72032	D	0.01	-1.9844	15.8997	0.79362	0.0:0.0:0.0:1.0	.	79	Q15369	ELOC_HUMAN	S	79;63;79;79;79;79;79;79	ENSP00000428334:Y79S;ENSP00000430224:Y63S;ENSP00000428171:Y79S;ENSP00000429596:Y79S;ENSP00000284811:Y79S;ENSP00000429906:Y79S;ENSP00000428074:Y79S;ENSP00000429789:Y79S	ENSP00000284811:Y79S	Y	-	2	0	TCEB1	75021522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.513000	0.81739	2.157000	0.67596	0.482000	0.46254	TAC		0.413	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		G	74858968	T	G	74858968	3	3	514	1	0	0	0	0	1	0	0	0	15684	1638	57	5	106	5	TCEB1	8	74858968	Missense_Mutation	SNP	T	TCGA-CJ-4889-01A-01D-1373-10		74858968	71505054	7	27591											
ZC3H3	23144	hgsc.bcm.edu	37	8	144522389	144522389	+	Silent	SNP	G	G	A			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr8:144522389G>A	ENST00000262577.5	-	11	2668	c.2637C>T	c.(2635-2637)tcC>tcT	p.S879S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			gaggggatgaggaggaggagg	0.657																																																0																																										SO:0001819	synonymous_variant	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2637C>T	8.37:g.144522389G>A			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	CCDS6402.1																																																																																				0.657	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		A	144522389	G	A	144522389	2	1	514	1	0	0	0	0	0	0	0	1	17574	987	35	2		2	ZC3H3	8	144522389	Silent	SNP	G	TCGA-CJ-4889-01A-01D-1373-10	69663421	144522389	1841633	8	27592											
TNC	3371	hgsc.bcm.edu;ucsc.edu	37	9	117848578	117848578	+	Missense_Mutation	SNP	C	C	T	rs149285218		TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr9:117848578C>T	ENST00000350763.4	-	3	1843	c.1432G>A	c.(1432-1434)Ggc>Agc	p.G478S	TNC_ENST00000341037.4_Missense_Mutation_p.G478S|TNC_ENST00000340094.3_Missense_Mutation_p.G478S|TNC_ENST00000423613.2_Missense_Mutation_p.G478S|TNC_ENST00000346706.3_Missense_Mutation_p.G478S|TNC_ENST00000542877.1_Missense_Mutation_p.G478S|TNC_ENST00000535648.1_Missense_Mutation_p.G478S|TNC_ENST00000537320.1_Missense_Mutation_p.G478S|TNC_ENST00000345230.3_Missense_Mutation_p.G478S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	478	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACACAGCGGCCGTGCTGGTGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		22696	0.0		0.001	False		,,,				2504	0.0															0													149	142	145					9																	117848578		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1432G>A	9.37:g.117848578C>T	ENSP00000265131:p.Gly478Ser		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	41	0.018772893772893772	16	0.032520325203252036	2	0.0055248618784530384	9	0.015734265734265736	14	0.018469656992084433	C	27.1	4.797591	0.90538	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	D;D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.82	5.82	0.92795	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.88100	0.6346	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90568	0.4520	10	0.87932	D	0	.	19.0681	0.93122	0.0:1.0:0.0:0.0	.	478;478	E9PC84;P24821	.;TENA_HUMAN	S	478	ENSP00000344400:G478S;ENSP00000438152:G478S;ENSP00000344555:G478S;ENSP00000345861:G478S;ENSP00000265131:G478S;ENSP00000339553:G478S;ENSP00000411406:G478S;ENSP00000443478:G478S;ENSP00000442242:G478S	ENSP00000344400:G478S	G	-	1	0	TNC	116888399	1.000000	0.71417	0.984000	0.44739	0.735000	0.41995	7.784000	0.85713	2.753000	0.94483	0.462000	0.41574	GGC		0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		T	117848578	C	T	117848578	3	4	514	1	0	0	0	0	1	0	0	0	16275	652	23	1	5277	1	TNC	9	117848578	Missense_Mutation	SNP	C	TCGA-CJ-4889-01A-01D-1373-10		117848578	23364853	9	27593											
SLC25A25	114789	hgsc.bcm.edu	37	9	130863618	130863618	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr9:130863618C>G	ENST00000373064.5	+	3	580	c.317C>G	c.(316-318)tCc>tGc	p.S106C	SLC25A25_ENST00000373069.5_Missense_Mutation_p.S140C|SLC25A25_ENST00000373068.2_Missense_Mutation_p.S140C|SLC25A25_ENST00000433501.1_Missense_Mutation_p.S3C|SLC25A25_ENST00000432073.2_Missense_Mutation_p.S126C|SLC25A25_ENST00000373066.5_Missense_Mutation_p.S126C	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	106	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						ATCATGCAGTCCCTGCGGGAC	0.577																																																0													54	60	58					9																	130863618		2203	4300	6503	SO:0001583	missense	114789			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.317C>G	9.37:g.130863618C>G	ENSP00000362155:p.Ser106Cys		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698131	0.68386	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.81330	-0.6;-0.6;-0.6;-0.6;-0.6;-1.48	5.15	5.15	0.70609	EF-hand-like domain (1);	0.101760	0.64402	D	0.000001	T	0.79052	0.4381	L	0.49126	1.545	0.80722	D	1	B;B;B;B	0.21147	0.007;0.01;0.022;0.052	B;B;B;B	0.28709	0.033;0.047;0.047;0.093	T	0.75766	-0.3202	10	0.48119	T	0.1	-17.7035	17.6765	0.88232	0.0:1.0:0.0:0.0	.	106;126;126;140	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	C	140;140;126;126;106;3	ENSP00000362159:S140C;ENSP00000362160:S140C;ENSP00000410053:S126C;ENSP00000362157:S126C;ENSP00000362155:S106C;ENSP00000401672:S3C	ENSP00000362155:S106C	S	+	2	0	SLC25A25	129903439	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.818000	0.86416	2.395000	0.81488	0.456000	0.33151	TCC		0.577	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		G	130863618	C	G	130863618	3	3	514	1	0	0	0	0	1	0	0	0	14494	855	30	4	815	4	SLC25A25	9	130863618	Missense_Mutation	SNP	C	TCGA-CJ-4889-01A-01D-1373-10	13015040	130863618	10349813	10	27594											
ABL1	25	hgsc.bcm.edu	37	9	133738356	133738356	+	Silent	SNP	G	G	A	rs121913458		TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr9:133738356G>A	ENST00000318560.5	+	4	1137	c.756G>A	c.(754-756)caG>caA	p.Q252Q		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.Q252H(7)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GCGGGGGCCAGTACGGGGAGG	0.612			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	7	Substitution - Missense(7)	haematopoietic_and_lymphoid_tissue(7)											83	80	81					9																	133738356		2203	4300	6503	SO:0001819	synonymous_variant	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.756G>A	9.37:g.133738356G>A			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																				0.612	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		A	133738356	G	A	133738356	2	1	514	1	0	0	0	0	0	0	0	1	92	1020	36	2		2	ABL1	9	133738356	Silent	SNP	G	TCGA-CJ-4889-01A-01D-1373-10	2874738	133738356	7475075	11	27595											
RRP12	23223	hgsc.bcm.edu	37	10	99132829	99132830	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr10:99132829_99132830insGC	ENST00000370992.4	-	18	2265_2266	c.2154_2155insGC	c.(2152-2157)agaactfs	p.T719fs	RRP12_ENST00000315563.6_Frame_Shift_Ins_p.T619fs|RRP12_ENST00000536831.1_Frame_Shift_Ins_p.T437fs|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Frame_Shift_Ins_p.T658fs	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	719						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GTGAGGTAAGTTCTGATGGTTT	0.619																																																0																																										SO:0001589	frameshift_variant	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2154_2155insGC	10.37:g.99132829_99132830insGC	ENSP00000360031:p.Thr719fs		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Frame_Shift_Ins	INS	ENST00000370992.4	37	CCDS7457.1																																																																																				0.619	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		GC	99132830	-	GC	99132829	7	5	514	1	0	1	1	0	0	0	0	0	13692	1725	60	0	1806	0	RRP12	10	99132829	Frame_Shift_Ins	INS	-	TCGA-CJ-4889-01A-01D-1373-10		99132829	36401918	12	27596											
KIAA1377	57562	hgsc.bcm.edu	37	11	101833645	101833645	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr11:101833645A>C	ENST00000263468.8	+	6	2149	c.1879A>C	c.(1879-1881)Att>Ctt	p.I627L	KIAA1377_ENST00000537689.1_Missense_Mutation_p.I428L	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	627										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCAAAGACCATTAAAAAACT	0.323																																																0													32	36	34					11																	101833645		2200	4296	6496	SO:0001583	missense	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1879A>C	11.37:g.101833645A>C	ENSP00000263468:p.Ile627Leu		Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	a	7.710	0.694962	0.15039	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.07800	3.16;3.16	5.31	2.97	0.34412	.	0.505033	0.19507	N	0.112612	T	0.08846	0.0219	M	0.62723	1.935	0.09310	N	1	B	0.28933	0.228	B	0.26969	0.075	T	0.33292	-0.9874	10	0.18276	T	0.48	-0.7166	8.3254	0.32153	0.7969:0.1338:0.0693:0.0	.	627	Q9P2H0	K1377_HUMAN	L	627;428	ENSP00000263468:I627L;ENSP00000443184:I428L	ENSP00000263468:I627L	I	+	1	0	KIAA1377	101338855	0.968000	0.33430	0.076000	0.20297	0.372000	0.29890	2.147000	0.42226	0.409000	0.25649	-0.364000	0.07487	ATT		0.323	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		C	101833645	A	C	101833645	3	2	514	1	0	0	0	0	1	0	0	0	8229	217	8	5	1901	5	KIAA1377	11	101833645	Missense_Mutation	SNP	A	TCGA-CJ-4889-01A-01D-1373-10		101833645	33172871	13	27597											
FAM18A	780776	hgsc.bcm.edu	37	16	10867214	10867214	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr16:10867214C>A	ENST00000299866.8	-	5	700	c.409G>T	c.(409-411)Gtg>Ttg	p.V137L	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	137						integral component of membrane (GO:0016021)											AAAAAAAACACAATCCATATC	0.423																																																0													79	79	79					16																	10867214		1883	4110	5993	SO:0001583	missense	0				CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"family with sequence similarity 18, member A"	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.409G>T	16.37:g.10867214C>A	ENSP00000299866:p.Val137Leu		B2RUV4|B7ZW18	Missense_Mutation	SNP	ENST00000299866.8	37	CCDS45408.1	.	.	.	.	.	.	.	.	.	.	C	0.120	-1.127067	0.01770	.	.	ENSG00000166676	ENST00000456096;ENST00000299866	T;T	0.44083	0.93;0.93	5.89	3.93	0.45458	.	0.222336	0.40144	N	0.001180	T	0.20292	0.0488	N	0.11131	0.1	0.19300	N	0.999973	B	0.09022	0.002	B	0.08055	0.003	T	0.21552	-1.0242	10	0.10377	T	0.69	-18.2925	9.2578	0.37595	0.0:0.716:0.0:0.2839	.	137	A6NH52	FA18A_HUMAN	L	112;137	ENSP00000411972:V112L;ENSP00000299866:V137L	ENSP00000299866:V137L	V	-	1	0	FAM18A	10774715	0.001000	0.12720	0.571000	0.28486	0.047000	0.14425	0.147000	0.16202	0.818000	0.34468	0.561000	0.74099	GTG		0.423	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1	NM_001079512		A	10867214	C	A	10867214	3	1	514	1	0	0	0	0	1	0	0	0	5520	478	17	4	244	4	FAM18A	16	10867214	Missense_Mutation	SNP	C	TCGA-CJ-4889-01A-01D-1373-10		10867214	79487539	14	27598											
MYH11	4629	hgsc.bcm.edu	37	16	15808800	15808800	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr16:15808800C>G	ENST00000300036.5	-	40	5861	c.5752G>C	c.(5752-5754)Ggc>Cgc	p.G1918R	MYH11_ENST00000396324.3_Missense_Mutation_p.G1925R|MYH11_ENST00000576790.2_Missense_Mutation_p.G1918R|MYH11_ENST00000452625.2_Missense_Mutation_p.G1925R|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1918					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTCGCGGCCCATGGCCTCG	0.672			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													119	117	117					16																	15808800		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5752G>C	16.37:g.15808800C>G	ENSP00000300036:p.Gly1918Arg		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515194	0.64634	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.76	4.76	0.60689	Myosin tail (1);	0.113372	0.64402	D	0.000013	T	0.68165	0.2971	N	0.14661	0.345	0.49582	D	0.999802	B;B;B;B;B	0.33777	0.425;0.293;0.293;0.293;0.293	B;B;B;B;B	0.42692	0.288;0.395;0.395;0.315;0.222	T	0.71751	-0.4498	10	0.72032	D	0.01	.	10.4174	0.44329	0.0:0.9099:0.0:0.0901	.	1925;1918;1925;1918;1925	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	R	1918;1918;1925;1925;1925	ENSP00000300036:G1918R;ENSP00000345136:G1918R;ENSP00000379616:G1925R;ENSP00000407821:G1925R	ENSP00000300036:G1918R	G	-	1	0	MYH11	15716301	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.435000	0.44811	2.177000	0.69029	0.455000	0.32223	GGC		0.672	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		G	15808800	C	G	15808800	3	3	514	1	0	0	0	0	1	0	0	0	10033	623	22	4	209	4	MYH11	16	15808800	Missense_Mutation	SNP	C	TCGA-CJ-4889-01A-01D-1373-10	4941586	15808800	74545953	15	27599											
OR3A1	4994	hgsc.bcm.edu	37	17	3195803	3195803	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr17:3195803C>G	ENST00000323404.1	-	1	73	c.74G>C	c.(73-75)gGg>gCg	p.G25A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	25					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGGCTGCAGCCCTGGCGCCTC	0.567																																					GBM(20;287 516 18743 28660 36594)											0													72	76	74					17																	3195803		2203	4300	6503	SO:0001583	missense	4994			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.74G>C	17.37:g.3195803C>G	ENSP00000313803:p.Gly25Ala		Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545918	0.27652	.	.	ENSG00000180090	ENST00000323404	T	0.00651	5.97	6.1	-6.13	0.02118	.	1.814180	0.02877	N	0.132432	T	0.00552	0.0018	N	0.10837	0.055	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46289	-0.9202	10	0.54805	T	0.06	1.8863	10.5457	0.45058	0.0916:0.5069:0.0:0.4015	.	25	P47881	OR3A1_HUMAN	A	25	ENSP00000313803:G25A	ENSP00000313803:G25A	G	-	2	0	OR3A1	3142553	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-2.001000	0.01465	-1.610000	0.01583	-0.312000	0.09012	GGG		0.567	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			G	3195803	C	G	3195803	3	3	514	1	0	0	0	0	1	0	0	0	11039	623	22	4	877	4	OR3A1	17	3195803	Missense_Mutation	SNP	C	TCGA-CJ-4889-01A-01D-1373-10		3195803	77999407	16	27600											
KDM6B	23135	hgsc.bcm.edu	37	17	7753240	7753240	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr17:7753240T>C	ENST00000448097.2	+	12	3873	c.3542T>C	c.(3541-3543)cTc>cCc	p.L1181P	KDM6B_ENST00000254846.5_Missense_Mutation_p.L1181P			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1181					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CGGGAAAAACTCAACCCCCCT	0.547																																																0													148	158	155					17																	7753240		2203	4300	6503	SO:0001583	missense	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3542T>C	17.37:g.7753240T>C	ENSP00000412513:p.Leu1181Pro		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	T	14.84	2.656196	0.47467	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.80480	-1.38;-1.38	5.27	4.17	0.49024	.	0.139011	0.49305	D	0.000159	D	0.89076	0.6612	M	0.83774	2.66	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.971	D	0.89310	0.3632	10	0.87932	D	0	-18.7798	10.7655	0.46291	0.1427:0.0:0.0:0.8573	.	1181;1181	O15054;O15054-1	KDM6B_HUMAN;.	P	1181	ENSP00000254846:L1181P;ENSP00000412513:L1181P	ENSP00000254846:L1181P	L	+	2	0	KDM6B	7693965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.563000	0.82314	0.932000	0.37266	0.459000	0.35465	CTC		0.547	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		C	7753240	T	C	7753240	3	2	514	1	0	0	0	0	1	0	0	0	8140	1551	54	3	3576	3	KDM6B	17	7753240	Missense_Mutation	SNP	T	TCGA-CJ-4889-01A-01D-1373-10	4557437	7753240	73441970	17	27601											
CEBPA	1050	hgsc.bcm.edu	37	19	33792412	33792412	+	Silent	SNP	G	G	T	rs371444741		TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr19:33792412G>T	ENST00000498907.2	-	1	1058	c.909C>A	c.(907-909)gcC>gcA	p.A303A	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	303	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H200_K352>Q(1)|p.A303_K304del(1)|p.A303_Q305del(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					TGCGCTGCTTGGCCTTGTCGC	0.642			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																														Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	4	Deletion - In frame(2)|Unknown(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(4)											50	51	51					19																	33792412		2203	4300	6503	SO:0001819	synonymous_variant	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.909C>A	19.37:g.33792412G>T			A7LNP2|P78319|Q05CA4	Silent	SNP	ENST00000498907.2	37	CCDS54243.1																																																																																				0.642	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365012.1	NM_004364		T	33792412	G	T	33792412	2	4	514	1	0	0	0	0	0	0	0	1	3201	1335	47	4		4	CEBPA	19	33792412	Silent	SNP	G	TCGA-CJ-4889-01A-01D-1373-10		33792412	25336571	18	27602											
TRAPPC10	7109	hgsc.bcm.edu	37	21	45523389	45523390	+	Frame_Shift_Ins	INS	-	-	T	rs138064479		TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chr21:45523389_45523390insT	ENST00000291574.4	+	23	3932_3933	c.3757_3758insT	c.(3757-3759)gtcfs	p.V1253fs		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1253					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGATGACCACGTCCTGGAAGTC	0.599																																																0																																										SO:0001589	frameshift_variant	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3758dupT	21.37:g.45523390_45523390dupT	ENSP00000291574:p.Val1253fs		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Frame_Shift_Ins	INS	ENST00000291574.4	37	CCDS13704.1																																																																																				0.599	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		T	45523390	-	T	45523389	7	5	514	1	0	1	1	0	0	0	0	0	16462	1145	40	0	3847	0	TRAPPC10	21	45523389	Frame_Shift_Ins	INS	-	TCGA-CJ-4889-01A-01D-1373-10		45523389	2606506	19	27603											
RGAG1	57529	hgsc.bcm.edu;ucsc.edu	37	X	109696417	109696417	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chrX:109696417A>G	ENST00000465301.2	+	3	2818	c.2572A>G	c.(2572-2574)Atg>Gtg	p.M858V	RGAG1_ENST00000540313.1_Missense_Mutation_p.M858V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	858										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCTGGAGGGATGTCCATGCC	0.532																																																0													174	160	165					X																	109696417		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2572A>G	X.37:g.109696417A>G	ENSP00000419786:p.Met858Val		Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.577685	0.00131	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.46451	0.87;0.87	3.98	1.33	0.21861	.	0.592411	0.14239	N	0.332228	T	0.17916	0.0430	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24728	-1.0152	9	.	.	.	-0.0047	6.076	0.19915	0.6989:0.0:0.3011:0.0	.	858	Q8NET4	RGAG1_HUMAN	V	858	ENSP00000419786:M858V;ENSP00000441452:M858V	.	M	+	1	0	RGAG1	109583073	0.313000	0.24554	0.012000	0.15200	0.630000	0.37929	1.343000	0.33930	0.132000	0.18615	-0.575000	0.04146	ATG		0.532	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		G	109696417	A	G	109696417	3	3	514	1	0	0	0	0	1	0	0	0	13280	333	12	3	2574	3	RGAG1	23	109696417	Missense_Mutation	SNP	A	TCGA-CJ-4889-01A-01D-1373-10		109696417	45574143	20	27604											
AVPR2	554	hgsc.bcm.edu	37	X	153170604	153170604	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4889-01A-01D-1373-10	TCGA-CJ-4889-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	8d73b9b9-5bc3-4c68-9805-6f5895530ce9	038d964b-b66a-4e6f-8017-9d632d0cdb60	g.chrX:153170604T>C	ENST00000358927.2	+	2	214	c.5T>C	c.(4-6)cTc>cCc	p.L2P	AVPR2_ENST00000337474.5_Missense_Mutation_p.L2P|AVPR2_ENST00000370049.1_Missense_Mutation_p.L2P			P30518	V2R_HUMAN	arginine vasopressin receptor 2	2					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCCACCATGCTCATGGCGTCC	0.602																																																0													165	125	139					X																	153170604		2203	4300	6503	SO:0001583	missense	554			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.5T>C	X.37:g.153170604T>C	ENSP00000351805:p.Leu2Pro		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	T	6.450	0.451196	0.12223	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.78481	-1.03;-1.18;-1.03;-0.51	3.27	2.13	0.27403	.	2.335370	0.01857	N	0.036361	T	0.67702	0.2921	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.56643	-0.7945	10	0.72032	D	0.01	-8.3175	3.8602	0.08993	0.0:0.1763:0.0:0.8237	.	2;2	P30518-2;P30518	.;V2R_HUMAN	P	2	ENSP00000351805:L2P;ENSP00000393513:L2P;ENSP00000338072:L2P;ENSP00000359066:L2P	ENSP00000338072:L2P	L	+	2	0	AVPR2	152823798	0.001000	0.12720	0.005000	0.12908	0.040000	0.13550	1.011000	0.29911	1.280000	0.44463	0.231000	0.17811	CTC		0.602	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			C	153170604	T	C	153170604	3	2	514	1	0	0	0	0	1	0	0	0	1233	1551	54	3	7	3	AVPR2	23	153170604	Missense_Mutation	SNP	T	TCGA-CJ-4889-01A-01D-1373-10	43474187	153170604	2099956	21	27605											
NBPF7	343505	hgsc.bcm.edu	37	1	120384017	120384017	+	IGR	SNP	A	A	T			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr1:120384017A>T								REG4 (29734 upstream) : ADAM30 (52138 downstream)																							ACCTGGGCTGAGCTTGTGGAC	0.577																																																0													73	79	77					1																	120384017		2203	4300	6503	SO:0001628	intergenic_variant	343505																															1.37:g.120384017A>T				Missense_Mutation	SNP		37																																																																																				0	0.577									T	120384017	A	T	120384017	1	4	515	0	1	0	0	0	0	0	0	0	10200	304	11	5		5	NBPF7	1	120384017	IGR	SNP	A	TCGA-CJ-4890-01A-01D-1373-10		120384017	128866604	1	27606											
C1orf101	257044	hgsc.bcm.edu;ucsc.edu	37	1	244780931	244780931	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr1:244780931C>T	ENST00000366534.4	+	20	2645	c.2591C>T	c.(2590-2592)cCc>cTc	p.P864L	C1orf101_ENST00000366531.3_Missense_Mutation_p.P713L|C1orf101_ENST00000366533.4_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	864						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATATTTTGGCCCATGGGCCAT	0.348																																																0													226	184	197					1																	244780931		692	1588	2280	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2591C>T	1.37:g.244780931C>T	ENSP00000355492:p.Pro864Leu		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070991	0.36566	.	.	ENSG00000179397	ENST00000366534;ENST00000428042;ENST00000366531	T;T;T	0.24908	1.83;1.83;1.83	5.73	4.74	0.60224	.	0.204155	0.34362	N	0.004036	T	0.46678	0.1405	L	0.58101	1.795	0.39915	D	0.974072	D;D	0.89917	1.0;0.993	D;P	0.77557	0.99;0.865	T	0.45234	-0.9275	10	0.66056	D	0.02	.	14.6769	0.68986	0.1549:0.8451:0.0:0.0	.	784;864	B1AQM6;Q5SY80	.;CA101_HUMAN	L	864;784;713	ENSP00000355492:P864L;ENSP00000395796:P784L;ENSP00000355489:P713L	ENSP00000355489:P713L	P	+	2	0	C1orf101	242847554	0.814000	0.29104	0.964000	0.40570	0.076000	0.17211	1.460000	0.35244	2.716000	0.92895	0.655000	0.94253	CCC		0.348	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		T	244780931	C	T	244780931	3	4	515	1	0	0	0	0	1	0	0	0	1978	623	22	2	2669	2	C1orf101	1	244780931	Missense_Mutation	SNP	C	TCGA-CJ-4890-01A-01D-1373-10	124396914	244780931	4469690	2	27607											
ATG4B	23192	hgsc.bcm.edu	37	2	242610738	242610738	+	Silent	SNP	T	T	C	rs11538896	byFrequency	TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr2:242610738T>C	ENST00000404914.3	+	12	1129	c.1026T>C	c.(1024-1026)ctT>ctC	p.L342L	ATG4B_ENST00000474739.2_Silent_p.L328L|ATG4B_ENST00000402096.1_Silent_p.L268L|ATG4B_ENST00000396411.3_Silent_p.L268L|ATG4B_ENST00000405546.3_Silent_p.L342L	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	342					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TGTCTCTGCTTGGAGGTGCCC	0.627													C|||	1027	0.205072	0.0787	0.2089	5008	,	,		19333	0.2966		0.2336	False		,,,				2504	0.2495				Melanoma(78;458 1323 6342 12171 39523)											0								C	,	413,3859		23,367,1746	65	71	69		1026,1026	-9.1	0	2	dbSNP_120	69	1876,6578		229,1418,2580	no	coding-synonymous,coding-synonymous	ATG4B	NM_013325.4,NM_178326.2	,	252,1785,4326	CC,CT,TT		22.1907,9.6676,17.9868	,	342/394,342/381	242610738	2289,10437	2136	4227	6363	SO:0001819	synonymous_variant	23192			AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"APG4 autophagy 4 homolog B (S. cerevisiae)", "ATG4 autophagy related 4 homolog B (S. cerevisiae)"	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.1026T>C	2.37:g.242610738T>C			B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Silent	SNP	ENST00000404914.3	37	CCDS46564.1																																																																																				0.627	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325		C	242610738	T	C	242610738	2	2	515	1	0	0	0	0	0	0	0	1	1097	1799	63	3		3	ATG4B	2	242610738	Silent	SNP	T	TCGA-CJ-4890-01A-01D-1373-10		242610738	588635	3	27608											
ISY1	57461	hgsc.bcm.edu;ucsc.edu	37	3	128864701	128864701	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr3:128864701A>T	ENST00000393295.3	-	6	520	c.203T>A	c.(202-204)tTt>tAt	p.F68Y	ISY1_ENST00000393292.3_Missense_Mutation_p.F68Y|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.F68Y|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.F68Y	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	68					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						ACGAATTCGAAATTCACCTAA	0.393																																																0													87	84	85					3																	128864701		1886	4115	6001	SO:0001583	missense	57461				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 33"	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.203T>A	3.37:g.128864701A>T	ENSP00000376973:p.Phe68Tyr		Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602310	0.46423	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.28895	1.59	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	L	0.33293	1	0.80722	D	1	B;B;B	0.29671	0.073;0.254;0.065	B;B;B	0.38106	0.042;0.265;0.06	T	0.02893	-1.1097	10	0.05721	T	0.95	.	13.2342	0.59961	1.0:0.0:0.0:0.0	.	68;68;68	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	Y	68;68;68;6;68	ENSP00000273541:F68Y	ENSP00000273541:F68Y	F	-	2	0	ISY1	130347391	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.662000	0.91130	2.010000	0.58986	0.482000	0.46254	TTT		0.393	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		T	128864701	A	T	128864701	3	4	515	1	0	0	0	0	1	0	0	0	7868	14	1	5	678	5	ISY1	3	128864701	Missense_Mutation	SNP	A	TCGA-CJ-4890-01A-01D-1373-10		128864701	69157729	4	27609											
BMP3	651	hgsc.bcm.edu	37	4	81967319	81967319	+	Silent	SNP	C	C	T			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr4:81967319C>T	ENST00000282701.2	+	2	1064	c.744C>T	c.(742-744)gcC>gcT	p.A248A		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	248					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.A248A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ATGATGCCGCCATTTCTGAGC	0.478																																																1	Substitution - coding silent(1)	central_nervous_system(1)											97	98	98					4																	81967319		2203	4300	6503	SO:0001819	synonymous_variant	651			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.744C>T	4.37:g.81967319C>T			Q4VAS5	Silent	SNP	ENST00000282701.2	37	CCDS3588.1																																																																																				0.478	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			T	81967319	C	T	81967319	2	4	515	1	0	0	0	0	0	0	0	1	1461	581	21	2		2	BMP3	4	81967319	Silent	SNP	C	TCGA-CJ-4890-01A-01D-1373-10		81967319	109186957	5	27610											
HHIP	64399	hgsc.bcm.edu	37	4	145580833	145580833	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr4:145580833G>T	ENST00000296575.3	+	4	1329	c.674G>T	c.(673-675)gGg>gTg	p.G225V	HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.G225V|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	225					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTTGTGAGTGGGCTGCGGCAG	0.458																																																0													125	138	133					4																	145580833		2203	4300	6503	SO:0001583	missense	64399			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.674G>T	4.37:g.145580833G>T	ENSP00000296575:p.Gly225Val		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833106	0.91036	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.54675	2.44;0.56	5.54	5.54	0.83059	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.80591	-0.1314	10	0.87932	D	0	-15.0322	19.4725	0.94969	0.0:0.0:1.0:0.0	.	225;225	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	V	225	ENSP00000296575:G225V;ENSP00000408587:G225V	ENSP00000296575:G225V	G	+	2	0	HHIP	145800283	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.620000	0.88729	0.555000	0.69702	GGG		0.458	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			T	145580833	G	T	145580833	3	4	515	1	0	0	0	0	1	0	0	0	7094	1232	43	4	688	4	HHIP	4	145580833	Missense_Mutation	SNP	G	TCGA-CJ-4890-01A-01D-1373-10	63613514	145580833	45573443	6	27611											
THOC3	84321	hgsc.bcm.edu	37	5	175388335	175388335	+	Silent	SNP	T	T	C	rs201011758		TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr5:175388335T>C	ENST00000265097.4	-	4	822	c.732A>G	c.(730-732)gcA>gcG	p.A244A	THOC3_ENST00000514861.1_Silent_p.A59A|RP11-91H12.4_ENST00000502813.1_RNA|THOC3_ENST00000510300.1_5'UTR|THOC3_ENST00000513482.1_Silent_p.A244A	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	244					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCAAAGCATCTGCACTTCCTG	0.493																																																0													15	13	14					5																	175388335		1113	1915	3028	SO:0001819	synonymous_variant	84321			BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"WD repeat domain containing", "THO complex subunits"	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.732A>G	5.37:g.175388335T>C			Q6NZ53	Silent	SNP	ENST00000265097.4	37	CCDS4397.1	248	0.11355311355311355	56	0.11382113821138211	47	0.1298342541436464	32	0.055944055944055944	113	0.14907651715039577	T	10.68	1.417318	0.25552	.	.	ENSG00000051596	ENST00000505969	.	.	.	4.74	-8.0	0.01126	.	.	.	.	.	T	0.00144	0.0004	.	.	.	0.09310	P	0.9999999999999427	.	.	.	.	.	.	T	0.17992	-1.0351	3	.	.	.	-11.9501	6.3489	0.21365	0.2591:0.4233:0.0:0.3176	.	.	.	.	G	28	.	.	R	-	1	2	THOC3	175320941	0.002000	0.14202	0.959000	0.39883	0.990000	0.78478	-1.500000	0.02283	-0.895000	0.03920	-0.509000	0.04479	AGA		0.493	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253148.1			C	175388335	T	C	175388335	2	2	515	1	0	0	0	0	0	0	0	1	15871	1567	55	3		3	THOC3	5	175388335	Silent	SNP	T	TCGA-CJ-4890-01A-01D-1373-10		175388335	5526925	7	27612											
COL9A1	1297	hgsc.bcm.edu	37	6	70942325	70942325	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr6:70942325T>A	ENST00000357250.6	-	36	2622	c.2464A>T	c.(2464-2466)Aag>Tag	p.K822*	RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Nonsense_Mutation_p.K579*|COL9A1_ENST00000370499.4_Nonsense_Mutation_p.K579*	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	822	Collagen-like 9.|Triple-helical region (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGGGGCCCCTTAATGCCCGGA	0.557																																																0													96	104	101					6																	70942325		2203	4300	6503	SO:0001587	stop_gained	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2464A>T	6.37:g.70942325T>A	ENSP00000349790:p.Lys822*		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Nonsense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	T	37	6.224266	0.97390	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	.	.	.	5.81	5.81	0.92471	.	0.042391	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1699	0.81801	0.0:0.0:0.0:1.0	.	.	.	.	X	822;579;579	.	ENSP00000315252:K579X	K	-	1	0	COL9A1	70999046	1.000000	0.71417	0.991000	0.47740	0.446000	0.32137	7.936000	0.87665	2.217000	0.71921	0.533000	0.62120	AAG		0.557	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			A	70942325	T	A	70942325	4	1	515	1	0	0	0	0	0	1	0	0	3709	1763	61	5	313	5	COL9A1	6	70942325	Nonsense_Mutation	SNP	T	TCGA-CJ-4890-01A-01D-1373-10		70942325	100172742	8	27613											
COL5A1	1289	hgsc.bcm.edu	37	9	137660274	137660274	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr9:137660274G>A	ENST00000371817.3	+	25	2665	c.2251G>A	c.(2251-2253)Ggc>Agc	p.G751S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	751	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGGAAACCAGGCCTTCCAGG	0.617																																																0													137	143	141					9																	137660274		2203	4300	6503	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2251G>A	9.37:g.137660274G>A	ENSP00000360882:p.Gly751Ser		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486096	0.63962	.	.	ENSG00000130635	ENST00000371817	D	0.99329	-5.75	4.44	4.44	0.53790	.	0.000000	0.85682	U	0.000000	D	0.99563	0.9843	H	0.96430	3.82	0.49389	D	0.999789	D	0.89917	1.0	D	0.83275	0.996	D	0.97971	1.0343	10	0.87932	D	0	.	12.5593	0.56271	0.0:0.0:1.0:0.0	.	751	P20908	CO5A1_HUMAN	S	751	ENSP00000360882:G751S	ENSP00000360882:G751S	G	+	1	0	COL5A1	136800095	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.790000	0.62453	2.027000	0.59764	0.561000	0.74099	GGC		0.617	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		A	137660274	G	A	137660274	3	1	515	1	0	0	0	0	1	0	0	0	3698	1000	35	2	2349	2	COL5A1	9	137660274	Missense_Mutation	SNP	G	TCGA-CJ-4890-01A-01D-1373-10		137660274	3553157	9	27614											
QSER1	79832	hgsc.bcm.edu	37	11	32956639	32956639	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr11:32956639A>C	ENST00000399302.2	+	4	3783	c.3448A>C	c.(3448-3450)Att>Ctt	p.I1150L	QSER1_ENST00000527788.1_Missense_Mutation_p.I911L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1150										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AACAGGATTTATTGCTTCTTT	0.438																																																0													82	81	81					11																	32956639		1852	4090	5942	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3448A>C	11.37:g.32956639A>C	ENSP00000382241:p.Ile1150Leu		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.03|14.03	2.414242|2.414242	0.42817|0.42817	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.25579|.	2.11;1.79|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.70272|0.70272	0.3205|0.3205	L|L	0.57536|0.57536	1.79|1.79	0.50039|0.50039	D|D	0.999849|0.999849	D;P;P|.	0.62365|.	0.991;0.504;0.603|.	D;B;B|.	0.72625|.	0.978;0.425;0.089|.	T|T	0.68957|0.68957	-0.5272|-0.5272	10|5	0.54805|.	T|.	0.06|.	.|.	15.5209|15.5209	0.75866|0.75866	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	911;911;1150|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	L|F	1150;911;911|170	ENSP00000382241:I1150L;ENSP00000432766:I911L|.	ENSP00000078652:I911L|.	I|L	+|+	1|3	0|2	QSER1|QSER1	32913215|32913215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	4.716000|4.716000	0.61916|0.61916	2.073000|2.073000	0.62155|0.62155	0.383000|0.383000	0.25322|0.25322	ATT|TTA		0.438	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		C	32956639	A	C	32956639	3	2	515	1	0	0	0	0	1	0	0	0	12888	449	16	5	3454	5	QSER1	11	32956639	Missense_Mutation	SNP	A	TCGA-CJ-4890-01A-01D-1373-10		32956639	102049877	10	27615											
DSCAML1	57453	hgsc.bcm.edu	37	11	117387317	117387317	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr11:117387317G>T	ENST00000321322.6	-	8	1829	c.1828C>A	c.(1828-1830)Cgc>Agc	p.R610S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R340S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	550	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACCACCTGGCGGTGGTTGTCT	0.587																																																0													95	76	82					11																	117387317		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1828C>A	11.37:g.117387317G>T	ENSP00000315465:p.Arg610Ser		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491204	0.64074	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66460	-0.21;-0.21	4.1	3.15	0.36227	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82554	0.5062	M	0.90814	3.15	0.58432	D	0.999999	D	0.71674	0.998	D	0.71184	0.972	D	0.85108	0.0961	9	0.87932	D	0	.	11.2752	0.49163	0.0:0.0:0.6685:0.3315	.	550	Q8TD84	DSCL1_HUMAN	S	340;610;317	ENSP00000434335:R340S;ENSP00000315465:R610S	ENSP00000315465:R610S	R	-	1	0	DSCAML1	116892527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.415000	0.59809	1.017000	0.39495	0.462000	0.41574	CGC		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117387317	G	T	117387317	3	4	515	1	0	0	0	0	1	0	0	0	4771	1116	39	4	4617	4	DSCAML1	11	117387317	Missense_Mutation	SNP	G	TCGA-CJ-4890-01A-01D-1373-10	84430678	117387317	17619199	11	27616											
FOXN3	1112	hgsc.bcm.edu	37	14	89878773	89878773	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr14:89878773A>C	ENST00000345097.4	-	2	164	c.48T>G	c.(46-48)atT>atG	p.I16M	FOXN3_ENST00000557258.1_Missense_Mutation_p.I16M|RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000261302.5_Missense_Mutation_p.I16M|RP11-33N16.3_ENST00000555070.1_RNA|FOXN3_ENST00000555353.1_Missense_Mutation_p.I16M	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	16					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGAGACACTAATTCCTGAGC	0.512																																																0													58	59	58					14																	89878773		2203	4300	6503	SO:0001583	missense	1112				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.48T>G	14.37:g.89878773A>C	ENSP00000343288:p.Ile16Met		Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712591	0.48517	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000555855;ENST00000555034;ENST00000553904	T;T;T;T;D	0.95342	-0.04;-0.04;-0.04;-0.04;-3.68	5.54	-1.74	0.08056	.	0.133168	0.52532	D	0.000078	D	0.91838	0.7417	L	0.54323	1.7	0.32941	D	0.518457	P;P	0.51351	0.944;0.773	B;P	0.48840	0.388;0.592	D	0.89327	0.3644	10	0.42905	T	0.14	.	7.6656	0.28428	0.297:0.0:0.4927:0.2103	.	16;16	O00409;O00409-2	FOXN3_HUMAN;.	M	16	ENSP00000343288:I16M;ENSP00000261302:I16M;ENSP00000452005:I16M;ENSP00000452227:I16M;ENSP00000451135:I16M	ENSP00000261302:I16M	I	-	3	3	FOXN3	88948526	0.992000	0.36948	0.942000	0.38095	0.959000	0.62525	0.527000	0.22987	-0.567000	0.06046	-0.408000	0.06270	ATT		0.512	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		C	89878773	A	C	89878773	3	2	515	1	0	0	0	0	1	0	0	0	6023	358	13	5	1448	5	FOXN3	14	89878773	Missense_Mutation	SNP	A	TCGA-CJ-4890-01A-01D-1373-10		89878773	17470767	12	27617											
CLMN	79789	hgsc.bcm.edu;ucsc.edu	37	14	95657993	95657993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr14:95657993G>A	ENST00000298912.4	-	13	3030	c.2917C>T	c.(2917-2919)Cag>Tag	p.Q973*	CLMN_ENST00000556441.1_Nonsense_Mutation_p.Q38*|CLMN_ENST00000557215.1_5'UTR	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	973					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCCGGCTGCTGGACAAGCTGT	0.527																																																0													82	84	84					14																	95657993		2203	4300	6503	SO:0001587	stop_gained	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2917C>T	14.37:g.95657993G>A	ENSP00000298912:p.Gln973*		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Nonsense_Mutation	SNP	ENST00000298912.4	37	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	36	5.632912	0.96682	.	.	ENSG00000165959	ENST00000298912;ENST00000556441	.	.	.	4.99	4.99	0.66335	.	0.000000	0.37761	N	0.001943	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.7968	0.63175	0.0:0.0:1.0:0.0	.	.	.	.	X	973;38	.	ENSP00000298912:Q973X	Q	-	1	0	CLMN	94727746	0.998000	0.40836	0.963000	0.40424	0.006000	0.05464	3.335000	0.52105	2.320000	0.78422	0.561000	0.74099	CAG		0.527	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			A	95657993	G	A	95657993	4	1	515	1	0	0	0	0	0	1	0	0	3544	1357	47	2	95	2	CLMN	14	95657993	Nonsense_Mutation	SNP	G	TCGA-CJ-4890-01A-01D-1373-10	5779220	95657993	11691547	13	27618											
ZNF521	25925	hgsc.bcm.edu	37	18	22806401	22806401	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr18:22806401T>C	ENST00000361524.3	-	4	1629	c.1481A>G	c.(1480-1482)gAa>gGa	p.E494G	ZNF521_ENST00000584787.1_Missense_Mutation_p.E274G|ZNF521_ENST00000538137.2_Missense_Mutation_p.E494G|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	494					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCGGATGTGTTCCTGAAGAGT	0.463			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													101	100	100					18																	22806401		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1481A>G	18.37:g.22806401T>C	ENSP00000354794:p.Glu494Gly		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574763	0.28092	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.28666	1.6;1.6	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.048029	0.85682	D	0.000000	T	0.33904	0.0879	L	0.32530	0.975	0.42219	D	0.991843	P	0.49862	0.929	P	0.49451	0.611	T	0.02829	-1.1105	10	0.31617	T	0.26	-22.3395	16.2741	0.82634	0.0:0.0:0.0:1.0	.	494	Q96K83	ZN521_HUMAN	G	494;528;494	ENSP00000354794:E494G;ENSP00000382352:E494G	ENSP00000354794:E494G	E	-	2	0	ZNF521	21060399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.322000	0.78497	0.528000	0.53228	GAA		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		C	22806401	T	C	22806401	3	2	515	1	0	0	0	0	1	0	0	0	17970	1783	62	3	2474	3	ZNF521	18	22806401	Missense_Mutation	SNP	T	TCGA-CJ-4890-01A-01D-1373-10		22806401	55270847	14	27619											
TCF3	6929	hgsc.bcm.edu	37	19	1650219	1650219	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr19:1650219A>G	ENST00000262965.5	-	2	373	c.29T>C	c.(28-30)gTg>gCg	p.V10A	TCF3_ENST00000344749.5_Missense_Mutation_p.V10A|TCF3_ENST00000395423.3_Missense_Mutation_p.V10A|TCF3_ENST00000588136.1_Missense_Mutation_p.V10A	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	CTNNB1-binding. {ECO:0000250}.|Gly-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGTGCCCACAGGCGCCAT	0.652			T	"PBX1, HLF, TFPT"	pre B-ALL																																		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0													36	38	37					19																	1650219		2179	4260	6439	SO:0001583	missense	6929			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.29T>C	19.37:g.1650219A>G	ENSP00000262965:p.Val10Ala		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.570980	0.45798	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.54479	2.17;2.18;0.57	4.13	3.08	0.35506	.	0.146862	0.45361	D	0.000374	T	0.60856	0.2301	L	0.49350	1.555	0.42033	D	0.991033	B;D;P	0.64830	0.047;0.994;0.714	B;D;B	0.70716	0.036;0.97;0.267	T	0.61237	-0.7103	10	0.51188	T	0.08	4.2549	7.8491	0.29444	0.8952:0.0:0.1048:0.0	.	10;10;10	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	A	10	ENSP00000262965:V10A;ENSP00000344375:V10A;ENSP00000378813:V10A	ENSP00000262965:V10A	V	-	2	0	TCF3	1601219	1.000000	0.71417	0.884000	0.34674	0.957000	0.61999	4.411000	0.59781	1.729000	0.51567	0.379000	0.24179	GTG		0.652	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		G	1650219	A	G	1650219	3	3	515	1	0	0	0	0	1	0	0	0	15699	159	6	3	2238	3	TCF3	19	1650219	Missense_Mutation	SNP	A	TCGA-CJ-4890-01A-01D-1373-10		1650219	57478764	15	27620											
MARCH2	51257	hgsc.bcm.edu	37	19	8486884	8486884	+	Missense_Mutation	SNP	G	G	A	rs1133893	byFrequency	TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr19:8486884G>A	ENST00000602117.1	+	2	615	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	MARCH2_ENST00000215555.2_Missense_Mutation_p.A54T|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Missense_Mutation_p.A54T|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000393944.1_Missense_Mutation_p.A54T			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	54			A -> T (in dbSNP:rs1133893). {ECO:0000269|PubMed:15489334}.		endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CGTCATCCGTGCCTTGGACAC	0.607													G|||	996	0.198882	0.0348	0.2723	5008	,	,		18467	0.2381		0.2922	False		,,,				2504	0.2321															0								G	THR/ALA,THR/ALA,THR/ALA	420,3986	204.1+/-226.4	23,374,1806	87	69	75		160,160,160	4.6	1	19	dbSNP_86	75	2872,5728	450.7+/-362.5	470,1932,1898	yes	missense,missense,missense	MARCH2	NM_001005415.1,NM_001005416.1,NM_016496.4	58,58,58	493,2306,3704	AA,AG,GG		33.3953,9.5325,25.3114	benign,benign,benign	54/247,54/177,54/247	8486884	3292,9714	2203	4300	6503	SO:0001583	missense	51257			AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28038	protein-coding gene	gene with protein product		613332	"membrane-associated ring finger (C3HC4) 2"			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.160G>A	19.37:g.8486884G>A	ENSP00000471536:p.Ala54Thr		A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	CCDS12202.1	476	0.21794871794871795	22	0.044715447154471545	109	0.3011049723756906	124	0.21678321678321677	221	0.29155672823219	G	14.98	2.696507	0.48202	0.095325	0.333953	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.15017	2.46;2.46;2.46	5.65	4.6	0.57074	.	0.109437	0.64402	D	0.000010	T	0.00012	0.0000	L	0.52364	1.645	0.19775	P	0.999951435	B;B	0.30851	0.05;0.297	B;B	0.33890	0.073;0.172	T	0.46233	-0.9206	9	0.13853	T	0.58	-19.541	14.7238	0.69329	0.0:0.0:0.854:0.146	rs1133893;rs3196037;rs11540064;rs11882865;rs17352509;rs17846004;rs17858988;rs58815990;rs11882865	54;54	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	T	54	ENSP00000377518:A54T;ENSP00000215555:A54T;ENSP00000370423:A54T	ENSP00000215555:A54T	A	+	1	0	MARCH2	8392884	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.156000	0.58138	1.362000	0.46000	0.555000	0.69702	GCC		0.607	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		A	8486884	G	A	8486884	3	1	515	1	0	0	0	0	1	0	0	0	9303	1319	46	2	162	2	MARCH2	19	8486884	Missense_Mutation	SNP	G	TCGA-CJ-4890-01A-01D-1373-10	6836665	8486884	50642099	16	27621											
NKG7	4818	hgsc.bcm.edu	37	19	51875304	51875304	+	Missense_Mutation	SNP	G	G	A	rs370793095		TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr19:51875304G>A	ENST00000221978.5	-	3	508	c.329C>T	c.(328-330)gCg>gTg	p.A110V	NKG7_ENST00000595217.1_Missense_Mutation_p.R104W|NKG7_ENST00000600427.1_Intron	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	110						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGTGTACACCGCCATGGCCAC	0.617																																																0								G	VAL/ALA	0,4406		0,0,2203	57	62	60		329	0.8	0	19		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKG7	NM_005601.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	110/166	51875304	1,13005	2203	4300	6503	SO:0001583	missense	4818				CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"granule membrane protein 17"	606008	"natural killer cell group 7 sequence"			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.329C>T	19.37:g.51875304G>A	ENSP00000221978:p.Ala110Val			Missense_Mutation	SNP	ENST00000221978.5	37	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	G	8.484	0.860560	0.17178	0.0	1.16E-4	ENSG00000105374	ENST00000221978	T	0.09723	2.95	5.65	0.757	0.18427	.	1.172550	0.06292	N	0.699352	T	0.08714	0.0216	L	0.38175	1.15	0.18873	N	0.999985	B	0.21452	0.056	B	0.21360	0.034	T	0.40776	-0.9545	10	0.05525	T	0.97	-0.5276	10.5423	0.45039	0.1937:0.0:0.8063:0.0	.	110	Q16617	NKG7_HUMAN	V	110	ENSP00000221978:A110V	ENSP00000221978:A110V	A	-	2	0	NKG7	56567116	0.001000	0.12720	0.022000	0.16811	0.165000	0.22458	0.022000	0.13511	-0.024000	0.13941	0.491000	0.48974	GCG		0.617	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		A	51875304	G	A	51875304	3	1	515	1	0	0	0	0	1	0	0	0	10445	1087	38	1	176	1	NKG7	19	51875304	Missense_Mutation	SNP	G	TCGA-CJ-4890-01A-01D-1373-10	43388420	51875304	7253679	17	27622											
EDN3	1908	hgsc.bcm.edu	37	20	57896170	57896170	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chr20:57896170C>G	ENST00000337938.2	+	3	850	c.464C>G	c.(463-465)cCa>cGa	p.P155R	EDN3_ENST00000395654.3_Missense_Mutation_p.P155R|EDN3_ENST00000311585.7_Missense_Mutation_p.P155R|EDN3_ENST00000371025.3_Missense_Mutation_p.P155R|EDN3_ENST00000371028.2_Missense_Mutation_p.P155R	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	155					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TCACATCGGCCACACTTGCGC	0.577																																																0													115	105	109					20																	57896170		2203	4300	6503	SO:0001583	missense	1908			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"Endogenous ligands"	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.464C>G	20.37:g.57896170C>G	ENSP00000337128:p.Pro155Arg		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506521	0.26949	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	4.87	3.9	0.45041	.	0.641603	0.13820	N	0.360520	D	0.87269	0.6135	L	0.34521	1.04	0.09310	N	1	P;D;P;P	0.54964	0.914;0.969;0.86;0.93	P;P;B;B	0.51806	0.581;0.68;0.272;0.289	T	0.78344	-0.2240	10	0.54805	T	0.06	-1.7006	10.6787	0.45802	0.1912:0.8088:0.0:0.0	.	155;155;155;155	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	R	155	ENSP00000337128:P155R;ENSP00000311854:P155R;ENSP00000360067:P155R;ENSP00000360064:P155R;ENSP00000379015:P155R	ENSP00000311854:P155R	P	+	2	0	EDN3	57329565	0.163000	0.22920	0.002000	0.10522	0.001000	0.01503	1.324000	0.33712	1.132000	0.42129	0.561000	0.74099	CCA		0.577	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		G	57896170	C	G	57896170	3	3	515	1	0	0	0	0	1	0	0	0	4920	594	21	4	474	4	EDN3	20	57896170	Missense_Mutation	SNP	C	TCGA-CJ-4890-01A-01D-1373-10		57896170	5129350	18	27623											
EGFL6	25975	hgsc.bcm.edu	37	X	13618146	13618146	+	Silent	SNP	T	T	C			TCGA-CJ-4890-01A-01D-1373-10	TCGA-CJ-4890-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	2e4289bf-7d28-419b-9f31-9633a203bfd4	090c84e4-4034-4a08-81ea-d6650fe28373	g.chrX:13618146T>C	ENST00000361306.1	+	4	590	c.333T>C	c.(331-333)aaT>aaC	p.N111N	EGFL6_ENST00000380602.3_Silent_p.N111N	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	111	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GATGTGTGAATACACACGGAA	0.478																																																0													146	108	121					X																	13618146		2203	4300	6503	SO:0001819	synonymous_variant	25975			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.333T>C	X.37:g.13618146T>C			B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Silent	SNP	ENST00000361306.1	37	CCDS14155.1																																																																																				0.478	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		C	13618146	T	C	13618146	2	2	515	1	0	0	0	0	0	0	0	1	4965	1403	49	3		3	EGFL6	23	13618146	Silent	SNP	T	TCGA-CJ-4890-01A-01D-1373-10		13618146	141652414	19	27624											
EIF2C1	26523	hgsc.bcm.edu	37	1	36358772	36358772	+	Silent	SNP	T	T	C			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr1:36358772T>C	ENST00000373204.4	+	4	618	c.405T>C	c.(403-405)atT>atC	p.I135I	AGO1_ENST00000373206.1_Silent_p.I60I	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	135					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GGCTAGCCATTGTGAGCTGGC	0.557																																																0													107	92	97					1																	36358772		2203	4300	6503	SO:0001819	synonymous_variant	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.405T>C	1.37:g.36358772T>C			Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	CCDS398.1																																																																																				0.557	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			C	36358772	T	C	36358772	2	2	516	1	0	0	0	0	0	0	0	1	5007	1800	63	3		3	EIF2C1	1	36358772	Silent	SNP	T	TCGA-CJ-4891-01A-01D-1373-10		36358772	212891849	1	27625											
C1orf173	127254	hgsc.bcm.edu	37	1	75037489	75037489	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr1:75037489C>A	ENST00000326665.5	-	14	4123	c.3905G>T	c.(3904-3906)tGc>tTc	p.C1302F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1302	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCCAGAGTGCACTCTTTGTC	0.542																																																0													263	218	233					1																	75037489		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.3905G>T	1.37:g.75037489C>A	ENSP00000322609:p.Cys1302Phe		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262562	0.23051	.	.	ENSG00000178965	ENST00000326665	T	0.12255	2.7	4.51	-3.12	0.05282	.	.	.	.	.	T	0.02494	0.0076	N	0.24115	0.695	0.09310	N	1	B	0.20671	0.047	B	0.18263	0.021	T	0.46541	-0.9184	9	0.51188	T	0.08	5.236	6.7233	0.23342	0.5174:0.2216:0.261:0.0	.	1302	Q5RHP9	CA173_HUMAN	F	1302	ENSP00000322609:C1302F	ENSP00000322609:C1302F	C	-	2	0	C1orf173	74810077	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-2.926000	0.00691	-0.340000	0.08388	0.462000	0.41574	TGC		0.542	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			A	75037489	C	A	75037489	3	1	516	1	0	0	0	0	1	0	0	0	2016	710	25	4	691	4	C1orf173	1	75037489	Missense_Mutation	SNP	C	TCGA-CJ-4891-01A-01D-1373-10	38678717	75037489	174213132	2	27626											
TNR	7143	hgsc.bcm.edu	37	1	175334171	175334171	+	Silent	SNP	C	C	T			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr1:175334171C>T	ENST00000367674.2	-	12	3270	c.2562G>A	c.(2560-2562)gaG>gaA	p.E854E	TNR_ENST00000263525.2_Silent_p.E854E			Q92752	TENR_HUMAN	tenascin R	854	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCACAATGGGCTCAGAGGTCA	0.522																																																0													77	75	76					1																	175334171		2203	4300	6503	SO:0001819	synonymous_variant	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2562G>A	1.37:g.175334171C>T			C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.522	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		T	175334171	C	T	175334171	2	4	516	1	0	0	0	0	0	0	0	1	16343	796	28	2		2	TNR	1	175334171	Silent	SNP	C	TCGA-CJ-4891-01A-01D-1373-10	100296682	175334171	73916450	3	27627											
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47142969	47142969	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr3:47142969T>A	ENST00000409792.3	-	8	5036	c.4994A>T	c.(4993-4995)gAc>gTc	p.D1665V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1665	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAACTGATAGTCAAACGTTAA	0.378			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													163	166	165					3																	47142969		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4994A>T	3.37:g.47142969T>A	ENSP00000386759:p.Asp1665Val		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804649	0.90623	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.84873	-1.91	5.94	5.94	0.96194	SET domain (3);	0.000000	0.56097	D	0.000028	D	0.96166	0.8750	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98154	1.0443	10	0.87932	D	0	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	1665;1665	F2Z317;Q9BYW2	.;SETD2_HUMAN	V	1665	ENSP00000386759:D1665V	ENSP00000386759:D1665V	D	-	2	0	SETD2	47117973	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.955000	0.87856	2.275000	0.75901	0.528000	0.53228	GAC		0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47142969	T	A	47142969	3	1	516	1	0	0	0	0	1	0	0	0	14137	1667	58	5	2756	5	SETD2	3	47142969	Missense_Mutation	SNP	T	TCGA-CJ-4891-01A-01D-1373-10		47142969	150879461	4	27628											
MFSD10	10227	hgsc.bcm.edu	37	4	2934201	2934201	+	Silent	SNP	C	C	G	rs373159516		TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr4:2934201C>G	ENST00000329687.4	-	5	1104	c.570G>C	c.(568-570)ctG>ctC	p.L190L	NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000508221.1_Silent_p.L190L|MFSD10_ENST00000355443.4_Silent_p.L190L|MFSD10_ENST00000507555.1_Silent_p.L190L|MFSD10_ENST00000514800.1_Silent_p.L190L|NOP14-AS1_ENST00000507999.1_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	190					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCATAGGGCCCAGGGTGAAGC	0.632																																																0								C	,	0,4406		0,0,2203	58	67	64		570,570	2.2	1	4		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MFSD10	NM_001120.4,NM_001146069.1	,	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,	190/456,190/456	2934201	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10227			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.570G>C	4.37:g.2934201C>G			Q07706	Silent	SNP	ENST00000329687.4	37	CCDS3365.1																																																																																				0.632	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		G	2934201	C	G	2934201	2	3	516	1	0	0	0	0	0	0	0	1	9530	581	21	4		4	MFSD10	4	2934201	Silent	SNP	C	TCGA-CJ-4891-01A-01D-1373-10		2934201	188220075	5	27629											
SLC26A8	116369	hgsc.bcm.edu	37	6	35922962	35922962	+	Silent	SNP	G	G	A			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr6:35922962G>A	ENST00000490799.1	-	17	2552	c.2199C>T	c.(2197-2199)taC>taT	p.Y733Y	SLC26A8_ENST00000355574.2_Silent_p.Y733Y|SLC26A8_ENST00000394602.2_Silent_p.Y628Y	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.Y733Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTGAATCCACGTAGTGTACCA	0.547																																																1	Substitution - coding silent(1)	prostate(1)											115	105	108					6																	35922962		2203	4300	6503	SO:0001819	synonymous_variant	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2199C>T	6.37:g.35922962G>A				Silent	SNP	ENST00000490799.1	37	CCDS4813.1																																																																																				0.547	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			A	35922962	G	A	35922962	2	1	516	1	0	0	0	0	0	0	0	1	14529	1140	40	1		1	SLC26A8	6	35922962	Silent	SNP	G	TCGA-CJ-4891-01A-01D-1373-10		35922962	135192105	6	27630											
PIK3CG	5294	hgsc.bcm.edu	37	7	106526717	106526717	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr7:106526717C>A	ENST00000359195.3	+	10	3320	c.3010C>A	c.(3010-3012)Cca>Aca	p.P1004T	PIK3CG_ENST00000496166.1_Missense_Mutation_p.P1004T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P1004T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	1004	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAAGACAAGCCCACACTTCCA	0.478																																																0													72	69	70					7																	106526717		2203	4300	6503	SO:0001583	missense	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.3010C>A	7.37:g.106526717C>A	ENSP00000352121:p.Pro1004Thr		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867849	0.51588	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.74315	-0.83;-0.83;-0.83	5.64	4.71	0.59529	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.515416	0.23910	N	0.043359	T	0.63307	0.2500	L	0.29908	0.895	0.46564	D	0.9991	B	0.10296	0.003	B	0.16722	0.016	T	0.56165	-0.8024	10	0.19590	T	0.45	0.5226	15.7056	0.77577	0.1374:0.8626:0.0:0.0	.	1004	P48736	PK3CG_HUMAN	T	1004	ENSP00000392258:P1004T;ENSP00000419260:P1004T;ENSP00000352121:P1004T	ENSP00000352121:P1004T	P	+	1	0	PIK3CG	106313953	0.999000	0.42202	0.980000	0.43619	0.925000	0.55904	4.839000	0.62810	2.820000	0.97059	0.650000	0.86243	CCA		0.478	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			A	106526717	C	A	106526717	3	1	516	1	0	0	0	0	1	0	0	0	11918	623	22	4	3044	4	PIK3CG	7	106526717	Missense_Mutation	SNP	C	TCGA-CJ-4891-01A-01D-1373-10		106526717	52611946	7	27631											
TET1	80312	hgsc.bcm.edu	37	10	70450816	70450816	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr10:70450816G>T	ENST00000373644.4	+	12	5865	c.5656G>T	c.(5656-5658)Gga>Tga	p.G1886*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1886					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.G1886R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GATGCCTTCGGGAAGACTCAG	0.567																																																2	Substitution - Missense(2)	lung(2)											74	67	69					10																	70450816		2203	4300	6503	SO:0001587	stop_gained	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5656G>T	10.37:g.70450816G>T	ENSP00000362748:p.Gly1886*		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Nonsense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	42	9.620891	0.99221	.	.	ENSG00000138336	ENST00000373644	.	.	.	5.55	2.21	0.28008	.	8.812420	0.00166	N	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	3.2751	0.06896	0.1305:0.1605:0.5446:0.1644	.	.	.	.	X	1886	.	ENSP00000362748:G1886X	G	+	1	0	TET1	70120822	0.094000	0.21725	0.050000	0.19076	0.046000	0.14306	0.570000	0.23653	1.306000	0.44926	0.655000	0.94253	GGA		0.567	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		T	70450816	G	T	70450816	4	4	516	1	0	0	0	0	0	1	0	0	15774	1233	43	4	5698	4	TET1	10	70450816	Nonsense_Mutation	SNP	G	TCGA-CJ-4891-01A-01D-1373-10		70450816	65083931	8	27632											
TAF1C	9013	hgsc.bcm.edu	37	16	84213194	84213194	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr16:84213194C>T	ENST00000567759.1	-	14	2145	c.1963G>A	c.(1963-1965)Gca>Aca	p.A655T	TAF1C_ENST00000570117.1_Missense_Mutation_p.A323T|TAF1C_ENST00000541676.1_Missense_Mutation_p.A562T|TAF1C_ENST00000566732.1_Missense_Mutation_p.A629T|TAF1C_ENST00000341690.6_Missense_Mutation_p.A561T|TAF1C_ENST00000378541.4_Missense_Mutation_p.A655T	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	655					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AAGGTGGGTGCTGTCCACACA	0.672																																																0													27	28	27					16																	84213194		2200	4298	6498	SO:0001583	missense	9013			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1963G>A	16.37:g.84213194C>T	ENSP00000455265:p.Ala655Thr		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047977	0.36085	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.04317	3.75;3.65;3.65	4.95	3.97	0.46021	.	0.494210	0.17937	N	0.156970	T	0.16896	0.0406	M	0.68317	2.08	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.87578	0.998;0.998;0.998;0.993	T	0.01444	-1.1353	10	0.54805	T	0.06	-1.8941	9.8811	0.41233	0.0:0.7252:0.2748:0.0	.	629;178;655;561	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	T	655;562;561;178	ENSP00000367802:A655T;ENSP00000437900:A562T;ENSP00000345305:A561T	ENSP00000345305:A561T	A	-	1	0	TAF1C	82770695	0.427000	0.25514	0.104000	0.21259	0.010000	0.07245	1.016000	0.29976	2.287000	0.76781	0.561000	0.74099	GCA		0.672	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		T	84213194	C	T	84213194	3	4	516	1	0	0	0	0	1	0	0	0	15526	797	28	2	650	2	TAF1C	16	84213194	Missense_Mutation	SNP	C	TCGA-CJ-4891-01A-01D-1373-10		84213194	6141559	9	27633											
MFSD6L	162387	hgsc.bcm.edu	37	17	8701341	8701341	+	Silent	SNP	G	G	A			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr17:8701341G>A	ENST00000329805.4	-	1	1326	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	366						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GAATGAGGTGGGGGTCACCCC	0.557																																																0													86	90	88					17																	8701341		2203	4300	6503	SO:0001819	synonymous_variant	162387			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1098C>T	17.37:g.8701341G>A			Q6YL34|Q8NA76	Silent	SNP	ENST00000329805.4	37	CCDS11146.1																																																																																				0.557	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		A	8701341	G	A	8701341	2	1	516	1	0	0	0	0	0	0	0	1	9538	1219	43	2		2	MFSD6L	17	8701341	Silent	SNP	G	TCGA-CJ-4891-01A-01D-1373-10		8701341	72493869	10	27634											
PTPRT	11122	hgsc.bcm.edu	37	20	40714466	40714466	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr20:40714466T>C	ENST00000373187.1	-	28	3873	c.3874A>G	c.(3874-3876)Acc>Gcc	p.T1292A	PTPRT_ENST00000356100.2_Missense_Mutation_p.T1301A|PTPRT_ENST00000373201.1_Missense_Mutation_p.T1282A|PTPRT_ENST00000373193.3_Missense_Mutation_p.T1295A|PTPRT_ENST00000373184.1_Missense_Mutation_p.T1302A|PTPRT_ENST00000373190.1_Missense_Mutation_p.T1291A|PTPRT_ENST00000373198.4_Missense_Mutation_p.T1311A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1292	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.T1314A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCCGGAGGTCTTCTCAGGC	0.522																																																1	Substitution - Missense(1)	ovary(1)											72	74	73					20																	40714466		1943	4139	6082	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3874A>G	20.37:g.40714466T>C	ENSP00000362283:p.Thr1292Ala		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.561626	0.45590	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.31	5.31	0.75309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.113243	0.64402	D	0.000011	T	0.13372	0.0324	N	0.25825	0.765	0.44417	D	0.997339	B;B	0.24258	0.1;0.072	B;B	0.30029	0.067;0.11	T	0.06215	-1.0839	10	0.66056	D	0.02	.	15.4285	0.75072	0.0:0.0:0.0:1.0	.	1314;1292	O14522-1;O14522	.;PTPRT_HUMAN	A	1291;1292;1295;1301;1314;1302;1282	ENSP00000362286:T1291A;ENSP00000362283:T1292A;ENSP00000362289:T1295A;ENSP00000348408:T1301A;ENSP00000362294:T1314A;ENSP00000362280:T1302A;ENSP00000362297:T1282A	ENSP00000348408:T1301A	T	-	1	0	PTPRT	40147880	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	2.539000	0.45718	2.232000	0.73038	0.533000	0.62120	ACC		0.522	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			C	40714466	T	C	40714466	3	2	516	1	0	0	0	0	1	0	0	0	12818	1667	58	3	467	3	PTPRT	20	40714466	Missense_Mutation	SNP	T	TCGA-CJ-4891-01A-01D-1373-10		40714466	22311054	11	27635											
CHEK2	11200	hgsc.bcm.edu;ucsc.edu	37	22	29091808	29091808	+	Silent	SNP	G	G	A			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chr22:29091808G>A	ENST00000405598.1	-	12	1340	c.1149C>T	c.(1147-1149)acC>acT	p.T383T	CHEK2_ENST00000403642.1_Silent_p.T292T|CHEK2_ENST00000328354.6_Silent_p.T383T|CHEK2_ENST00000544772.1_Silent_p.T162T|CHEK2_ENST00000382580.2_Silent_p.T426T|CHEK2_ENST00000402731.1_Silent_p.T354T|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.T292T|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Silent_p.T354T|CHEK2_ENST00000404276.1_Silent_p.T383T			O96017	CHK2_HUMAN	checkpoint kinase 2	383	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.T383T(5)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTCCACATAAGGTTCTCATGA	0.433			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	5	Substitution - coding silent(5)	central_nervous_system(5)											57	56	57					22																	29091808		2203	4300	6503	SO:0001819	synonymous_variant	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1149C>T	22.37:g.29091808G>A			A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	8.951	0.968314	0.18659	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-11.8	0.00035	.	.	.	.	.	T	0.43100	0.1232	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53585	-0.8418	4	.	.	.	-6.6972	7.2273	0.26022	0.624:0.0706:0.2037:0.1017	.	.	.	.	L	127	.	.	P	-	2	0	CHEK2	27421808	0.000000	0.05858	0.322000	0.25334	0.995000	0.86356	-3.768000	0.00371	-1.897000	0.01101	-0.143000	0.13931	CCT		0.433	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		A	29091808	G	A	29091808	2	1	516	1	0	0	0	0	0	0	0	1	3337	987	35	2		2	CHEK2	22	29091808	Silent	SNP	G	TCGA-CJ-4891-01A-01D-1373-10		29091808	22212758	12	27636											
MTMR8	55613	hgsc.bcm.edu	37	X	63548772	63548772	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4891-01A-01D-1373-10	TCGA-CJ-4891-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	4176dd2a-f3b8-44bd-866f-cd5835080b2b	84b5374a-2e42-43e0-bed9-5d9a000398e2	g.chrX:63548772T>C	ENST00000374852.3	-	12	1428	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G	MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_5'Flank	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	454	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.		E -> K (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ATGTGTTTTCTCATAGACTCT	0.378																																																1	Whole gene deletion(1)	ovary(1)											64	55	58					X																	63548772		2203	4300	6503	SO:0001583	missense	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1361A>G	X.37:g.63548772T>C	ENSP00000363985:p.Glu454Gly		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.377465|3.377465	0.61735|0.61735	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000374852;ENST00000247400|ENST00000442913	D|.	0.90563|.	-2.69|.	2.93|2.93	2.93|2.93	0.34026|0.34026	Myotubularin phosphatase domain (1);|.	0.000000|.	0.43747|.	U|.	0.000540|.	T|.	0.74329|.	0.3702|.	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	D|.	0.61080|.	0.989|.	P|.	0.57468|.	0.821|.	T|.	0.75659|.	-0.3241|.	10|.	0.72032|.	D|.	0.01|.	.|.	9.6367|9.6367	0.39811|0.39811	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	454|.	Q96EF0|.	MTMR8_HUMAN|.	G|W	454;340|257	ENSP00000363985:E454G|.	ENSP00000247400:E340G|.	E|X	-|-	2|3	0|0	MTMR8|MTMR8	63465497|63465497	1.000000|1.000000	0.71417|0.71417	0.626000|0.626000	0.29213|0.29213	0.914000|0.914000	0.54420|0.54420	5.936000|5.936000	0.70153|0.70153	1.188000|1.188000	0.43014|0.43014	0.412000|0.412000	0.27726|0.27726	GAG|TGA		0.378	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		C	63548772	T	C	63548772	3	2	516	1	0	0	0	0	1	0	0	0	9951	1551	54	3	765	3	MTMR8	23	63548772	Missense_Mutation	SNP	T	TCGA-CJ-4891-01A-01D-1373-10		63548772	91721788	13	27637											
VHL	7428	hgsc.bcm.edu	37	3	10183709	10183712	+	Frame_Shift_Del	DEL	CGGC	CGGC	-	rs5030651|rs113612866		TCGA-CJ-4892-01A-01W-1369-10	TCGA-CJ-4892-11A-01W-1370-10	CGGC	CGGC	CGGC	-	CGGC	CGGC	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	9b45e056-72cd-45f2-a3ef-71b57328c6c2	a69da0a6-4ec9-4e28-8a32-f366688bf9d3	g.chr3:10183709_10183712delCGGC	ENST00000256474.2	+	1	1018_1021	c.178_181delCGGC	c.(178-183)cggcccfs	p.RP60fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Del_p.RP60fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	60					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E52_S65del(2)|p.V62fs*5(2)|p.R58fs*6(2)|p.R60fs*5(2)|p.P59_P61del(1)|p.G57fs*69(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.R60W(1)|p.P61fs*61(1)|p.G57fs*4(1)|p.R60fs*70(1)|p.R60fs*6(1)|p.A56fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGGGCGGCCGCGGCCCGTGCTGCG	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	18	Deletion - Frameshift(13)|Deletion - In frame(3)|Substitution - Missense(1)|Complex - deletion inframe(1)	kidney(17)|soft_tissue(1)	GRCh37	CD951870	VHL	D																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.178_181delCGGC	3.37:g.10183709_10183712delCGGC	ENSP00000256474:p.Arg60fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183712	CGGC	-	10183709	7	5	517	1	0	1	0	1	0	0	0	0	17167	759	27	0	180	0	VHL	3	10183709	Frame_Shift_Del	DEL	CGGC	TCGA-CJ-4892-01A-01W-1369-10		10183709	187838721	1	27638											
ALPL	249	hgsc.bcm.edu	37	1	21887655	21887655	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr1:21887655G>A	ENST00000374840.3	+	4	497	c.247G>A	c.(247-249)Gag>Aag	p.E83K	ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Missense_Mutation_p.E83K|ALPL_ENST00000539907.1_Intron|ALPL_ENST00000540617.1_Missense_Mutation_p.E28K|ALPL_ENST00000425315.2_Missense_Mutation_p.E83K	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	83					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.E83K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CAACCCTGGGGAGGAGACCAG	0.622																																																1	Substitution - Missense(1)	ovary(1)											86	60	69					1																	21887655		2202	4300	6502	SO:0001583	missense	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.247G>A	1.37:g.21887655G>A	ENSP00000363973:p.Glu83Lys		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480171	0.96307	.	.	ENSG00000162551	ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25	5.29	5.29	0.74685	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98710	0.9567	M	0.90082	3.085	0.80722	D	1	B;D	0.89917	0.318;1.0	B;D	0.91635	0.385;0.999	D	0.99785	1.1029	10	0.87932	D	0	-15.0435	17.4801	0.87670	0.0:0.0:1.0:0.0	.	31;83	B7Z1D1;P05186	.;PPBT_HUMAN	K	28;83;83;83	ENSP00000442672:E28K;ENSP00000363973:E83K;ENSP00000363965:E83K;ENSP00000394765:E83K	ENSP00000363965:E83K	E	+	1	0	ALPL	21760242	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.404000	0.97306	2.476000	0.83614	0.462000	0.41574	GAG		0.622	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		A	21887655	G	A	21887655	3	1	518	1	0	0	0	0	1	0	0	0	547	1175	41	2	257	2	ALPL	1	21887655	Missense_Mutation	SNP	G	TCGA-CJ-4893-01A-01D-1373-10		21887655	227362966	1	27639											
BAI2	576	hgsc.bcm.edu	37	1	32193184	32193184	+	Missense_Mutation	SNP	C	C	G	rs372902157		TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr1:32193184C>G	ENST00000373658.3	-	33	4936	c.4595G>C	c.(4594-4596)cGc>cCc	p.R1532P	BAI2_ENST00000398542.1_Missense_Mutation_p.R1413P|BAI2_ENST00000398547.1_Missense_Mutation_p.R1446P|BAI2_ENST00000398556.3_Missense_Mutation_p.R1447P|BAI2_ENST00000257070.4_Missense_Mutation_p.R1498P|BAI2_ENST00000440175.2_Missense_Mutation_p.R1122P|BAI2_ENST00000527361.1_Missense_Mutation_p.R1498P|BAI2_ENST00000373655.2_Missense_Mutation_p.R1531P|BAI2_ENST00000398538.1_Missense_Mutation_p.R1501P|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1532					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAAGCTGGGGCGCTCCCCAGG	0.612																																																0													21	21	21					1																	32193184		2203	4300	6503	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4595G>C	1.37:g.32193184C>G	ENSP00000362762:p.Arg1532Pro		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965288	0.34659	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.47528	3.35;1.65;3.35;3.35;1.83;3.35;3.35;1.49;0.84	4.29	2.33	0.28932	.	0.412552	0.18103	N	0.151610	T	0.38161	0.1030	L	0.52011	1.625	0.29945	N	0.820694	B;B;B;B;B;P	0.42039	0.426;0.004;0.0;0.426;0.002;0.769	B;B;B;B;B;B	0.38985	0.287;0.008;0.003;0.287;0.003;0.268	T	0.40869	-0.9540	10	0.72032	D	0.01	.	6.2544	0.20865	0.0:0.757:0.0:0.243	.	1498;1520;1122;1531;1532;1501	O60241-4;O60241-3;B4DKC3;O60241-2;O60241;A2A3C2	.;.;.;.;BAI2_HUMAN;.	P	1447;1446;1532;1531;1413;1498;1498;1122;1501	ENSP00000381564:R1447P;ENSP00000381555:R1446P;ENSP00000362762:R1532P;ENSP00000362759:R1531P;ENSP00000381550:R1413P;ENSP00000257070:R1498P;ENSP00000435397:R1498P;ENSP00000391071:R1122P;ENSP00000381548:R1501P	ENSP00000257070:R1498P	R	-	2	0	BAI2	31965771	0.012000	0.17670	0.971000	0.41717	0.933000	0.57130	0.358000	0.20216	0.516000	0.28340	0.561000	0.74099	CGC		0.612	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		G	32193184	C	G	32193184	3	3	518	1	0	0	0	0	1	0	0	0	1299	768	27	4	166	4	BAI2	1	32193184	Missense_Mutation	SNP	C	TCGA-CJ-4893-01A-01D-1373-10	10305529	32193184	217057437	2	27640											
NBPF14	25832	hgsc.bcm.edu	37	1	148021592	148021592	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr1:148021592C>T	ENST00000369219.1	-	5	618	c.602G>A	c.(601-603)gGa>gAa	p.G201E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	201	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGACACTGGTCCTTTTTCTTC	0.363																																																0													98	133	123					1																	148021592		1767	4054	5821	SO:0001583	missense	25832			AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.602G>A	1.37:g.148021592C>T	ENSP00000358221:p.Gly201Glu		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.250|8.250	0.808847|0.808847	0.16467|0.16467	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874|ENST00000369219	.|T	.|0.05382	.|3.45	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.03915|0.03915	0.0110|0.0110	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|D;P	.|0.56035	.|0.974;0.87	.|P;P	.|0.60789	.|0.879;0.681	T|T	0.30736|0.30736	-0.9968|-0.9968	3|7	.|0.33141	.|T	.|0.24	.|.	.|.	.|.	.|.	.|.	.|201;466	.|Q5TI25;Q5VTG7	.|NBPFE_HUMAN;.	N|E	207;212;212;212;212;212;212;212|201	.|ENSP00000358221:G201E	.|ENSP00000358221:G201E	D|G	-|-	1|2	0|0	NBPF14|NBPF14	146488216|146488216	0.998000|0.998000	0.40836|0.40836	0.001000|0.001000	0.08648|0.08648	0.000000|0.000000	0.00434|0.00434	0.711000|0.711000	0.25764|0.25764	-0.520000|-0.520000	0.06435|0.06435	-0.633000|-0.633000	0.03987|0.03987	GAC|GGA		0.363	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		T	148021592	C	T	148021592	3	4	518	1	0	0	0	0	1	0	0	0	10196	855	30	2	2235	2	NBPF14	1	148021592	Missense_Mutation	SNP	C	TCGA-CJ-4893-01A-01D-1373-10	115828408	148021592	101229029	3	27641											
RAB10	10890	hgsc.bcm.edu;ucsc.edu	37	2	26332677	26332677	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr2:26332677T>A	ENST00000264710.4	+	3	728	c.229T>A	c.(229-231)Tcc>Acc	p.S77T	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	77					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCACAACCTCCTACTACAG	0.373																																																0													103	95	98					2																	26332677		2203	4300	6503	SO:0001583	missense	10890			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"RAB, member RAS oncogene"	9759	protein-coding gene	gene with protein product	"ras-related GTP-binding protein"	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.229T>A	2.37:g.26332677T>A	ENSP00000264710:p.Ser77Thr		D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801644	0.90538	.	.	ENSG00000084733	ENST00000264710	T	0.80214	-1.35	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	N	0.20483	0.58	0.80722	D	1	P	0.36974	0.576	P	0.46172	0.506	T	0.80051	-0.1544	10	0.87932	D	0	.	14.422	0.67190	0.0:0.0:0.0:1.0	.	77	P61026	RAB10_HUMAN	T	77	ENSP00000264710:S77T	ENSP00000264710:S77T	S	+	1	0	RAB10	26186181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.041000	0.64196	2.091000	0.63221	0.477000	0.44152	TCC		0.373	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		A	26332677	T	A	26332677	3	1	518	1	0	0	0	0	1	0	0	0	12896	1551	54	5	239	5	RAB10	2	26332677	Missense_Mutation	SNP	T	TCGA-CJ-4893-01A-01D-1373-10		26332677	216866696	4	27642											
BIRC6	57448	hgsc.bcm.edu	37	2	32692693	32692693	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr2:32692693T>G	ENST00000421745.2	+	27	5591	c.5457T>G	c.(5455-5457)atT>atG	p.I1819M		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1819					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAATTGACATTTGGACATTAG	0.433																																					Pancreas(94;175 1509 16028 18060 45422)											0													153	145	147					2																	32692693		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5457T>G	2.37:g.32692693T>G	ENSP00000393596:p.Ile1819Met		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	15.92	2.976224	0.53720	.	.	ENSG00000115760	ENST00000421745	T	0.79749	-1.3	5.61	2.84	0.33178	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.71206	2.165	0.42075	D	0.991225	P	0.44578	0.838	B	0.42422	0.387	T	0.76572	-0.2910	10	0.87932	D	0	.	5.6506	0.17614	0.1397:0.1813:0.0:0.679	.	1819	Q9NR09	BIRC6_HUMAN	M	1819	ENSP00000393596:I1819M	ENSP00000393596:I1819M	I	+	3	3	BIRC6	32546197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.333000	0.33816	0.939000	0.37446	0.456000	0.33151	ATT		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		G	32692693	T	G	32692693	3	3	518	1	0	0	0	0	1	0	0	0	1438	1829	64	5	5563	5	BIRC6	2	32692693	Missense_Mutation	SNP	T	TCGA-CJ-4893-01A-01D-1373-10	6360016	32692693	210506680	5	27643											
RARB	5915	hgsc.bcm.edu;ucsc.edu	37	3	25470335	25470335	+	Intron	SNP	G	G	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr3:25470335G>A	ENST00000404969.1	+	2	178				RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Intron|RARB_ENST00000330688.4_Missense_Mutation_p.S38N			P10826	RARB_HUMAN	retinoic acid receptor, beta						embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCATGCTTCAGTGGATTGACC	0.453																																																0													151	128	136					3																	25470335		2203	4300	6503	SO:0001627	intron_variant	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.179-32349G>A	3.37:g.25470335G>A			P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	G	9.538	1.112646	0.20795	.	.	ENSG00000077092	ENST00000330688	D	0.92647	-3.08	6.03	5.15	0.70609	.	0.466390	0.25065	N	0.033407	D	0.83714	0.5314	N	0.16478	0.41	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.77515	-0.2559	10	0.21540	T	0.41	.	10.6466	0.45623	0.068:0.1333:0.7987:0.0	.	38	F1D8S6	.	N	38	ENSP00000332296:S38N	ENSP00000332296:S38N	S	+	2	0	RARB	25445339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.781000	0.62389	1.541000	0.49316	-0.175000	0.13238	AGT		0.453	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		A	25470335	G	A	25470335	1	1	518	0	1	0	0	0	0	0	0	0	13059	1029	36	2		2	RARB	3	25470335	Intron	SNP	G	TCGA-CJ-4893-01A-01D-1373-10		25470335	172552095	6	27644											
ATR	545	hgsc.bcm.edu;ucsc.edu	37	3	142241591	142241591	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr3:142241591A>T	ENST00000350721.4	-	23	4366	c.4245T>A	c.(4243-4245)gaT>gaA	p.D1415E	ATR_ENST00000383101.3_Missense_Mutation_p.D1351E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1415					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGGCAGCTGAATCTTGAGCTC	0.373								Other conserved DNA damage response genes																																								0													126	127	126					3																	142241591		2203	4300	6503	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4245T>A	3.37:g.142241591A>T	ENSP00000343741:p.Asp1415Glu		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436774	0.83885	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03831	3.81;3.79	5.26	5.26	0.73747	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.00704	-1.1602	10	0.42905	T	0.14	-22.263	9.6667	0.39988	0.922:0.0:0.078:0.0	.	1415	Q13535	ATR_HUMAN	E	1415;1351	ENSP00000343741:D1415E;ENSP00000372581:D1351E	ENSP00000343741:D1415E	D	-	3	2	ATR	143724281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.954000	0.49113	1.973000	0.57446	0.528000	0.53228	GAT		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142241591	A	T	142241591	3	4	518	1	0	0	0	0	1	0	0	0	1204	98	4	5	3789	5	ATR	3	142241591	Missense_Mutation	SNP	A	TCGA-CJ-4893-01A-01D-1373-10	116771256	142241591	55780839	7	27645											
MME	4311	hgsc.bcm.edu	37	3	154898167	154898167	+	Silent	SNP	G	G	A	rs201945617		TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr3:154898167G>A	ENST00000460393.1	+	23	2292	c.2172G>A	c.(2170-2172)caG>caA	p.Q724Q	MME_ENST00000492661.1_Silent_p.Q724Q|MME_ENST00000360490.2_Silent_p.Q724Q|MME_ENST00000462745.1_Silent_p.Q724Q|MME_ENST00000493237.1_Silent_p.Q724Q|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	724					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GGACTTTGCAGAACTCTGCAG	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		16973	0.001		0.0	False		,,,				2504	0.0															0													111	120	117					3																	154898167		2203	4300	6503	SO:0001819	synonymous_variant	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.2172G>A	3.37:g.154898167G>A			A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	CCDS3172.1																																																																																				0.433	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		A	154898167	G	A	154898167	2	1	518	1	0	0	0	0	0	0	0	1	9647	933	33	2		2	MME	3	154898167	Silent	SNP	G	TCGA-CJ-4893-01A-01D-1373-10	12656576	154898167	43124263	8	27646											
JAKMIP1	152789	hgsc.bcm.edu	37	4	6086641	6086641	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr4:6086641C>T	ENST00000282924.5	-	5	1371	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E131K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E131K|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E296K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E296K|JAKMIP1_ENST00000457227.2_5'UTR	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	296	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.E296*(2)|p.E296K(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAATTCAGTTCAGCAATTTTT	0.393																																																3	Substitution - Nonsense(2)|Substitution - Missense(1)	lung(2)|ovary(1)											233	226	228					4																	6086641		2203	4300	6503	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.886G>A	4.37:g.6086641C>T	ENSP00000282924:p.Glu296Lys		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136085	0.94517	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.45276	1.37;0.96;1.37;1.37;0.9	4.79	4.79	0.61399	.	0.216872	0.32640	N	0.005823	T	0.59555	0.2202	L	0.54323	1.7	0.51482	D	0.999929	D;B;D;D;B	0.67145	0.996;0.008;0.996;0.996;0.035	D;B;D;D;B	0.76071	0.981;0.009;0.987;0.987;0.015	T	0.63323	-0.6663	10	0.87932	D	0	.	15.0225	0.71640	0.0:1.0:0.0:0.0	.	131;296;131;296;296	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	K	296;131;296;296;188;296;296;131	ENSP00000386711:E296K;ENSP00000387042:E131K;ENSP00000282924:E296K;ENSP00000386925:E296K;ENSP00000386745:E131K	ENSP00000282924:E296K	E	-	1	0	JAKMIP1	6137542	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	7.396000	0.79891	2.203000	0.70933	0.591000	0.81541	GAA		0.393	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		T	6086641	C	T	6086641	3	4	518	1	0	0	0	0	1	0	0	0	7942	835	29	2	1752	2	JAKMIP1	4	6086641	Missense_Mutation	SNP	C	TCGA-CJ-4893-01A-01D-1373-10		6086641	185067635	9	27647											
LIN54	132660	hgsc.bcm.edu;ucsc.edu	37	4	83849392	83849392	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr4:83849392C>G	ENST00000340417.3	-	13	2490	c.2113G>C	c.(2113-2115)Gca>Cca	p.A705P	LIN54_ENST00000505397.1_Missense_Mutation_p.A705P|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000506560.1_Missense_Mutation_p.A616P|LIN54_ENST00000510557.1_Missense_Mutation_p.A484P|LIN54_ENST00000505905.1_5'Flank|LIN54_ENST00000442461.2_Missense_Mutation_p.A484P|LIN54_ENST00000395283.2_Missense_Mutation_p.A616P|LIN54_ENST00000446851.2_Missense_Mutation_p.A484P	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	705					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GCCTGCTCTGCCTGGGCAAGG	0.443																																																0													137	113	121					4																	83849392		2203	4300	6503	SO:0001583	missense	132660			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"CXC domain containing 1"	613367	"lin-54 homolog (C. elegans)"			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.2113G>C	4.37:g.83849392C>G	ENSP00000341947:p.Ala705Pro		Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350068	0.95830	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.996	T	0.83041	-0.0157	9	0.66056	D	0.02	-22.6082	20.452	0.99131	0.0:1.0:0.0:0.0	.	616;577;705	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	P	705;616;484;484;484;616;705	.	ENSP00000341947:A705P	A	-	1	0	LIN54	84068416	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.734000	0.84928	2.838000	0.97847	0.591000	0.81541	GCA		0.443	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		G	83849392	C	G	83849392	3	3	518	1	0	0	0	0	1	0	0	0	8811	739	26	4	140	4	LIN54	4	83849392	Missense_Mutation	SNP	C	TCGA-CJ-4893-01A-01D-1373-10	77762751	83849392	107304884	10	27648											
DCHS2	54798	hgsc.bcm.edu	37	4	155156936	155156936	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr4:155156936C>A	ENST00000357232.4	-	25	7502	c.7503G>T	c.(7501-7503)atG>atT	p.M2501I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2501	Cadherin 22. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGATTATTTTCATTTCCAAGG	0.368																																																0													94	100	98					4																	155156936		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7503G>T	4.37:g.155156936C>A	ENSP00000349768:p.Met2501Ile		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521482	0.27211	.	.	ENSG00000197410	ENST00000357232	T	0.58940	0.3	5.82	4.07	0.47477	Cadherin (3);Cadherin-like (1);	0.402700	0.26549	N	0.023745	T	0.37320	0.0999	N	0.17901	0.54	0.80722	D	1	B	0.14805	0.011	B	0.08055	0.003	T	0.22977	-1.0201	10	0.44086	T	0.13	.	5.4173	0.16380	0.2592:0.5471:0.1254:0.0682	.	2501	Q6V1P9	PCD23_HUMAN	I	2501	ENSP00000349768:M2501I	ENSP00000349768:M2501I	M	-	3	0	DCHS2	155376386	0.003000	0.15002	0.983000	0.44433	0.838000	0.47535	0.193000	0.17116	1.441000	0.47550	0.467000	0.42956	ATG		0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		A	155156936	C	A	155156936	3	1	518	1	0	0	0	0	1	0	0	0	4290	826	29	4	1251	4	DCHS2	4	155156936	Missense_Mutation	SNP	C	TCGA-CJ-4893-01A-01D-1373-10	71307544	155156936	35997340	11	27649											
SLC9A3	6550	hgsc.bcm.edu;ucsc.edu	37	5	485324	485324	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr5:485324G>C	ENST00000264938.3	-	4	707	c.698C>G	c.(697-699)tCt>tGt	p.S233C	SLC9A3_ENST00000514375.1_Missense_Mutation_p.S233C	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	233					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCCACGAAAGATTCAAACAC	0.632																																																0													165	135	145					5																	485324		2201	4300	6501	SO:0001583	missense	6550				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.698C>G	5.37:g.485324G>C	ENSP00000264938:p.Ser233Cys		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389247	0.42410	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.17854	2.25;2.25	4.14	4.14	0.48551	Cation/H+ exchanger (1);	0.353536	0.29444	N	0.012138	T	0.46718	0.1407	M	0.84683	2.71	0.33931	D	0.642118	D;D	0.89917	1.0;1.0	D;D	0.79108	0.979;0.992	T	0.67325	-0.5699	10	0.72032	D	0.01	.	16.3914	0.83541	0.0:0.0:1.0:0.0	.	233;233	E9PF67;P48764	.;SL9A3_HUMAN	C	233	ENSP00000264938:S233C;ENSP00000422983:S233C	ENSP00000264938:S233C	S	-	2	0	SLC9A3	538324	1.000000	0.71417	0.721000	0.30653	0.112000	0.19704	6.924000	0.75823	2.027000	0.59764	0.555000	0.69702	TCT		0.632	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		C	485324	G	C	485324	3	2	518	1	0	0	0	0	1	0	0	0	14719	942	33	4	1862	4	SLC9A3	5	485324	Missense_Mutation	SNP	G	TCGA-CJ-4893-01A-01D-1373-10		485324	180429936	12	27650											
DEPDC1B	55789	hgsc.bcm.edu	37	5	59895075	59895075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr5:59895075C>A	ENST00000265036.5	-	10	1322	c.1255G>T	c.(1255-1257)Gga>Tga	p.G419*	DEPDC1B_ENST00000545085.1_Intron|DEPDC1B_ENST00000453022.2_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	419					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ATATCAGCTCCTGGGTATTTT	0.333																																																0													57	60	59					5																	59895075		2203	4300	6503	SO:0001587	stop_gained	55789			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1255G>T	5.37:g.59895075C>A	ENSP00000265036:p.Gly419*		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Nonsense_Mutation	SNP	ENST00000265036.5	37	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	C	37	6.015276	0.97205	.	.	ENSG00000035499	ENST00000265036	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.4127	19.4557	0.94886	0.0:1.0:0.0:0.0	.	.	.	.	X	419	.	.	G	-	1	0	DEPDC1B	59930832	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.303000	0.72794	2.601000	0.87937	0.591000	0.81541	GGA		0.333	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		A	59895075	C	A	59895075	4	1	518	1	0	0	0	0	0	1	0	0	4442	690	24	4	342	4	DEPDC1B	5	59895075	Nonsense_Mutation	SNP	C	TCGA-CJ-4893-01A-01D-1373-10	59409751	59895075	121020185	13	27651											
MSH3	4437	hgsc.bcm.edu;ucsc.edu	37	5	80074600	80074600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr5:80074600C>T	ENST00000265081.6	+	17	2460	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	794					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ACATCTGAATCAGCTCCGGGA	0.393								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)											0													84	85	85					5																	80074600		2203	4300	6503	SO:0001587	stop_gained	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2380C>T	5.37:g.80074600C>T	ENSP00000265081:p.Gln794*		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Nonsense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	41	8.717188	0.98927	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.8214	19.8454	0.96706	0.0:1.0:0.0:0.0	.	.	.	.	X	794;785	.	.	Q	+	1	0	MSH3	80110356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.059000	0.76684	2.850000	0.98022	0.650000	0.86243	CAG		0.393	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		T	80074600	C	T	80074600	4	4	518	1	0	0	0	0	0	1	0	0	9873	827	29	2	2446	2	MSH3	5	80074600	Nonsense_Mutation	SNP	C	TCGA-CJ-4893-01A-01D-1373-10	20179525	80074600	100840660	14	27652											
EIF4E1B	253314	hgsc.bcm.edu;ucsc.edu	37	5	176070710	176070710	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr5:176070710G>A	ENST00000318682.6	+	5	855	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.V91M	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	91					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCACCAAGGTGGACACTGT	0.642																																																0													30	34	33					5																	176070710		2051	4180	6231	SO:0001583	missense	253314				CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.271G>A	5.37:g.176070710G>A	ENSP00000323714:p.Val91Met			Missense_Mutation	SNP	ENST00000318682.6	37	CCDS47345.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765338	0.69878	.	.	ENSG00000175766	ENST00000318682;ENST00000504597	T;T	0.51325	0.71;0.71	5.33	-0.0753	0.13727	Translation Initiation factor eIF- 4e-like  domain (2);	0.199988	0.42682	D	0.000665	T	0.47893	0.1470	L	0.43701	1.375	0.23496	N	0.997555	P	0.45126	0.851	P	0.50860	0.652	T	0.49072	-0.8977	9	.	.	.	.	14.3614	0.66773	0.0:0.0:0.4944:0.5056	.	91	A6NMX2	I4E1B_HUMAN	M	91	ENSP00000323714:V91M;ENSP00000427633:V91M	.	V	+	1	0	EIF4E1B	176003316	1.000000	0.71417	0.917000	0.36280	0.731000	0.41821	1.304000	0.33482	-0.237000	0.09739	-0.500000	0.04577	GTG		0.642	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1	NM_001099408		A	176070710	G	A	176070710	3	1	518	1	0	0	0	0	1	0	0	0	5031	1261	44	2	281	2	EIF4E1B	5	176070710	Missense_Mutation	SNP	G	TCGA-CJ-4893-01A-01D-1373-10	95996110	176070710	4844550	15	27653											
UIMC1	51720	hgsc.bcm.edu	37	5	176382976	176382976	+	Silent	SNP	T	T	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr5:176382976T>C	ENST00000377227.4	-	8	1455	c.1323A>G	c.(1321-1323)gaA>gaG	p.E441E	UIMC1_ENST00000377219.2_Silent_p.E441E|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000511320.1_Silent_p.E441E|UIMC1_ENST00000506128.1_Silent_p.E275E			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	441	Necessary for interaction with NR6A1 C- terminus.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACAGTGATTTCTTCTGCAG	0.383																																																0													113	107	109					5																	176382976		2203	4300	6503	SO:0001819	synonymous_variant	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1323A>G	5.37:g.176382976T>C			A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Silent	SNP	ENST00000377227.4	37	CCDS4408.1																																																																																				0.383	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		C	176382976	T	C	176382976	2	2	518	1	0	0	0	0	0	0	0	1	16976	1838	64	3		3	UIMC1	5	176382976	Silent	SNP	T	TCGA-CJ-4893-01A-01D-1373-10	312266	176382976	4532284	16	27654											
PAPOLB	56903	hgsc.bcm.edu	37	7	4901302	4901302	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr7:4901302A>G	ENST00000404991.1	-	1	323	c.137T>C	c.(136-138)cTc>cCc	p.L46P	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	46					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GAAGGGCCTGAGGGTTTCTAT	0.542																																																0													21	21	21					7																	4901302		1925	4147	6072	SO:0001583	missense	56903			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.137T>C	7.37:g.4901302A>G	ENSP00000384700:p.Leu46Pro		Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37		.	.	.	.	.	.	.	.	.	.	A	10.62	1.401786	0.25291	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	2.97	0.34412	.	.	.	.	.	D	0.85410	0.5690	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86034	0.1515	8	0.87932	D	0	.	8.2475	0.31698	0.9026:0.0:0.0974:0.0	.	47	A4D1Z6	.	P	46	.	ENSP00000384700:L46P	L	-	2	0	PAPOLB	4867828	1.000000	0.71417	0.893000	0.35052	0.067000	0.16453	8.205000	0.89743	0.922000	0.37019	0.533000	0.62120	CTC		0.542	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		G	4901302	A	G	4901302	3	3	518	1	0	0	0	0	1	0	0	0	11432	304	11	3	1777	3	PAPOLB	7	4901302	Missense_Mutation	SNP	A	TCGA-CJ-4893-01A-01D-1373-10		4901302	154237361	17	27655											
ZCWPW1	55063	hgsc.bcm.edu	37	7	100004924	100004924	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr7:100004924C>A	ENST00000398027.2	-	11	1239	c.992G>T	c.(991-993)tGg>tTg	p.W331L	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.W332L|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.W211L|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.W211L	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	331	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATGCCTGGCCACCTGGAGAA	0.453																																																0													45	41	42					7																	100004924		1920	4119	6039	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.992G>T	7.37:g.100004924C>A	ENSP00000381109:p.Trp331Leu		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.165186	0.78339	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336;ENST00000379559	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	5.52	5.52	0.82312	PWWP (2);	0.000000	0.52532	D	0.000072	D	0.98479	0.9493	M	0.92367	3.3	0.43977	D	0.996663	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.999;0.998;0.999;0.998	D	0.99372	1.0920	9	.	.	.	-6.7962	14.9692	0.71220	0.0:1.0:0.0:0.0	.	332;292;334;331;211	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	L	331;211;332;211;81;334	ENSP00000381109:W331L;ENSP00000419187:W211L;ENSP00000354210:W332L;ENSP00000314880:W211L;ENSP00000418351:W81L	.	W	-	2	0	ZCWPW1	99842860	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.017000	0.57167	2.594000	0.87642	0.550000	0.68814	TGG		0.453	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		A	100004924	C	A	100004924	3	1	518	1	0	0	0	0	1	0	0	0	17602	595	21	4	986	4	ZCWPW1	7	100004924	Missense_Mutation	SNP	C	TCGA-CJ-4893-01A-01D-1373-10	95103622	100004924	59133739	18	27656											
AGK	55750	hgsc.bcm.edu	37	7	141341644	141341644	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr7:141341644A>G	ENST00000355413.4	+	13	1171	c.911A>G	c.(910-912)aAa>aGa	p.K304R	AGK_ENST00000535825.1_3'UTR|AGK_ENST00000473247.1_Missense_Mutation_p.K276R	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	304					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GAGGTCTGGAAAGATGTGCAG	0.473																																																0													76	59	65					7																	141341644		2203	4299	6502	SO:0001583	missense	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.911A>G	7.37:g.141341644A>G	ENSP00000347581:p.Lys304Arg		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	A	9.989	1.230406	0.22542	.	.	ENSG00000006530	ENST00000355413;ENST00000473247	T;T	0.13901	2.55;2.55	4.7	3.49	0.39957	.	0.470695	0.26352	N	0.024870	T	0.08891	0.0220	L	0.29908	0.895	0.42249	D	0.991963	B	0.02656	0.0	B	0.04013	0.001	T	0.22730	-1.0208	10	0.19590	T	0.45	.	7.4277	0.27109	0.8851:0.0:0.1149:0.0	.	304	Q53H12	AGK_HUMAN	R	304;276	ENSP00000347581:K304R;ENSP00000420776:K276R	ENSP00000347581:K304R	K	+	2	0	AGK	140988113	0.942000	0.31987	0.722000	0.30670	0.946000	0.59487	2.690000	0.47001	0.703000	0.31848	0.374000	0.22700	AAA		0.473	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		G	141341644	A	G	141341644	3	3	518	1	0	0	0	0	1	0	0	0	383	14	1	3	957	3	AGK	7	141341644	Missense_Mutation	SNP	A	TCGA-CJ-4893-01A-01D-1373-10	41336720	141341644	17797019	19	27657											
NRG1	3084	hgsc.bcm.edu;ucsc.edu	37	8	32505779	32505779	+	Intron	SNP	T	T	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr8:32505779T>A	ENST00000405005.3	+	5	502				NRG1_ENST00000341377.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.F181L|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000519301.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTTTTGCCTTTTCTTTCTTGC	0.502																																																0													221	177	192					8																	32505779		2203	4300	6503	SO:0001627	intron_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31376T>A	8.37:g.32505779T>A			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877510	0.51801	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	5.77	0.726	0.18248	.	.	.	.	.	T	0.26882	0.0658	N	0.17082	0.46	0.80722	D	1	P;P	0.43287	0.802;0.612	B;B	0.40677	0.337;0.256	T	0.06006	-1.0851	8	0.08837	T	0.75	.	10.455	0.44546	0.0:0.3351:0.0:0.6649	.	181;181	Q53F54;Q02297-10	.;.	L	181;141	.	ENSP00000433289:F181L	F	+	3	2	NRG1	32625321	0.966000	0.33281	0.999000	0.59377	0.975000	0.68041	-0.089000	0.11180	0.183000	0.20059	0.533000	0.62120	TTT		0.502	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			A	32505779	T	A	32505779	1	1	518	0	1	0	0	0	0	0	0	0	10649	1838	64	5		5	NRG1	8	32505779	Intron	SNP	T	TCGA-CJ-4893-01A-01D-1373-10		32505779	113858243	20	27658											
VPS13A	23230	hgsc.bcm.edu;ucsc.edu	37	9	79910543	79910543	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr9:79910543A>C	ENST00000360280.3	+	33	3853	c.3593A>C	c.(3592-3594)aAa>aCa	p.K1198T	VPS13A_ENST00000376636.3_Missense_Mutation_p.K1159T|VPS13A_ENST00000357409.5_Missense_Mutation_p.K1198T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.K1198T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1198				K -> R (in Ref. 1; AAK61861). {ECO:0000305}.	cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTGGTGTAAAAGAACTCGCA	0.438																																																0													97	90	92					9																	79910543		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3593A>C	9.37:g.79910543A>C	ENSP00000353422:p.Lys1198Thr		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253197	0.80135	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.36	5.36	0.76844	.	0.060048	0.64402	D	0.000004	T	0.39733	0.1089	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.69078	0.975;0.969;0.997;0.997	P;P;D;P	0.64687	0.848;0.711;0.928;0.864	T	0.20907	-1.0261	10	0.20519	T	0.43	.	15.6507	0.77091	1.0:0.0:0.0:0.0	.	1159;1198;1198;1198	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	T	1198;1159;1198;1198	ENSP00000365821:K1198T;ENSP00000365823:K1159T;ENSP00000353422:K1198T;ENSP00000349985:K1198T	ENSP00000349985:K1198T	K	+	2	0	VPS13A	79100363	1.000000	0.71417	0.906000	0.35671	0.950000	0.60333	3.608000	0.54109	2.163000	0.67991	0.460000	0.39030	AAA		0.438	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		C	79910543	A	C	79910543	3	2	518	1	0	0	0	0	1	0	0	0	17194	14	1	5	3723	5	VPS13A	9	79910543	Missense_Mutation	SNP	A	TCGA-CJ-4893-01A-01D-1373-10		79910543	61302888	21	27659											
OR13A1	79290	hgsc.bcm.edu	37	10	45799761	45799761	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr10:45799761T>C	ENST00000553795.1	-	4	418	c.110A>G	c.(109-111)gAg>gGg	p.E37G	OR13A1_ENST00000536058.1_Missense_Mutation_p.E37G|OR13A1_ENST00000374401.2_Missense_Mutation_p.E37G	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TTCTGGGTGCTCCGAAAAGCC	0.527																																																0													68	80	76					10																	45799761		2203	4300	6503	SO:0001583	missense	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.110A>G	10.37:g.45799761T>C	ENSP00000451950:p.Glu37Gly		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	t	12.20	1.866833	0.32977	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00000	10.27;10.27;10.27	5.09	5.09	0.68999	.	0.000000	0.44688	D	0.000433	T	0.00039	0.0001	L	0.35854	1.095	0.09310	N	1	B	0.15473	0.013	B	0.15484	0.013	T	0.01413	-1.1361	10	0.44086	T	0.13	-32.1141	7.8708	0.29565	0.0:0.0935:0.0:0.9065	.	37	Q8NGR1	O13A1_HUMAN	G	37	ENSP00000451950:E37G;ENSP00000438657:E37G;ENSP00000363522:E37G	ENSP00000311379:E37G	E	-	2	0	OR13A1	45119767	0.000000	0.05858	0.978000	0.43139	0.828000	0.46876	0.346000	0.19997	2.042000	0.60477	0.491000	0.48974	GAG		0.527	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		C	45799761	T	C	45799761	3	2	518	1	0	0	0	0	1	0	0	0	10935	1551	54	3	880	3	OR13A1	10	45799761	Missense_Mutation	SNP	T	TCGA-CJ-4893-01A-01D-1373-10		45799761	89734986	22	27660											
LRRC27	80313	hgsc.bcm.edu	37	10	134161545	134161545	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr10:134161545T>G	ENST00000368614.3	+	6	716	c.611T>G	c.(610-612)tTg>tGg	p.L204W	LRRC27_ENST00000368612.1_Missense_Mutation_p.L142W|LRRC27_ENST00000432555.2_Missense_Mutation_p.L77W|LRRC27_ENST00000392638.2_Missense_Mutation_p.L204W|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000368610.3_Missense_Mutation_p.L142W|LRRC27_ENST00000368615.3_Missense_Mutation_p.L204W|LRRC27_ENST00000344079.5_Missense_Mutation_p.L204W|LRRC27_ENST00000368613.4_Missense_Mutation_p.L204W	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	204										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GGACTGGAGTTGTCTGGAGAC	0.567																																																0													90	93	92					10																	134161545		2203	4300	6503	SO:0001583	missense	80313			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.611T>G	10.37:g.134161545T>G	ENSP00000357603:p.Leu204Trp		A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.71|15.71	2.915017|2.915017	0.52546|0.52546	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000450442|ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	.|T;T;T;T;T;T;T;T	.|0.52754	.|2.35;2.26;2.26;2.27;2.27;4.03;4.03;0.65	3.75|3.75	3.75|3.75	0.43078|0.43078	.|.	.|0.000000	.|0.32190	.|N	.|0.006450	T|T	0.60025|0.60025	0.2237|0.2237	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.991;0.999;0.994;0.986;0.996	T|T	0.49532|0.49532	-0.8930|-0.8930	5|10	.|0.66056	.|D	.|0.02	-11.4702|-11.4702	9.4239|9.4239	0.38567|0.38567	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|204;77;142;204;204	.|Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.|.;.;.;LRC27_HUMAN;.	G|W	156|204;204;204;204;204;142;142;77	.|ENSP00000357604:L204W;ENSP00000376413:L204W;ENSP00000342641:L204W;ENSP00000357603:L204W;ENSP00000357602:L204W;ENSP00000357601:L142W;ENSP00000357599:L142W;ENSP00000407949:L77W	.|ENSP00000342641:L204W	C|L	+|+	1|2	0|0	LRRC27|LRRC27	134011535|134011535	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	-0.136000|-0.136000	0.10405|0.10405	1.659000|1.659000	0.50751|0.50751	0.533000|0.533000	0.62120|0.62120	TGT|TTG		0.567	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		G	134161545	T	G	134161545	3	3	518	1	0	0	0	0	1	0	0	0	8983	1821	63	5	629	5	LRRC27	10	134161545	Missense_Mutation	SNP	T	TCGA-CJ-4893-01A-01D-1373-10	88361784	134161545	1373202	23	27661											
PLEKHA7	144100	hgsc.bcm.edu;ucsc.edu	37	11	16816509	16816509	+	Silent	SNP	C	C	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr11:16816509C>T	ENST00000355661.3	-	18	2476	c.2466G>A	c.(2464-2466)ctG>ctA	p.L822L	PLEKHA7_ENST00000531066.1_Silent_p.L822L|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.L822L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	822					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TATTTGCACTCAGGCCTGCAG	0.463																																																0													212	200	204					11																	16816509		2200	4294	6494	SO:0001819	synonymous_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2466G>A	11.37:g.16816509C>T			B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	CCDS31434.1																																																																																				0.463	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		T	16816509	C	T	16816509	2	4	518	1	0	0	0	0	0	0	0	1	12063	813	29	2		2	PLEKHA7	11	16816509	Silent	SNP	C	TCGA-CJ-4893-01A-01D-1373-10		16816509	118190007	24	27662											
ARHGEF17	9828	hgsc.bcm.edu	37	11	73021006	73021007	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr11:73021006_73021007delCA	ENST00000263674.3	+	1	1673_1674	c.1323_1324delCA	c.(1321-1326)ggcaccfs	p.T442fs	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	442					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GACCTGGAGGCACCTCTAGGGC	0.609																																																0																																										SO:0001589	frameshift_variant	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1323_1324delCA	11.37:g.73021006_73021007delCA	ENSP00000263674:p.Thr442fs		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Frame_Shift_Del	DEL	ENST00000263674.3	37	CCDS8221.1																																																																																				0.609	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		-	73021007	CA	-	73021006	7	5	518	1	0	1	0	1	0	0	0	0	900	697	25	0	1325	0	ARHGEF17	11	73021006	Frame_Shift_Del	DEL	CA	TCGA-CJ-4893-01A-01D-1373-10	56204497	73021006	61985510	25	27663											
FZD4	8322	hgsc.bcm.edu	37	11	86662332	86662332	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr11:86662332A>G	ENST00000531380.1	-	2	1771	c.1466T>C	c.(1465-1467)aTc>aCc	p.I489T	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	489					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCTGAAGTGATGCCCACCAA	0.408																																																0													102	100	100					11																	86662332		2201	4299	6500	SO:0001583	missense	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1466T>C	11.37:g.86662332A>G	ENSP00000434034:p.Ile489Thr		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615949	0.66672	.	.	ENSG00000174804	ENST00000531380	D	0.86865	-2.18	6.06	6.06	0.98353	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.95092	0.8410	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95998	0.8991	9	.	.	.	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	489	Q9ULV1	FZD4_HUMAN	T	489	ENSP00000434034:I489T	.	I	-	2	0	FZD4	86339980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.265000	0.95647	2.324000	0.78689	0.533000	0.62120	ATC		0.408	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		G	86662332	A	G	86662332	3	3	518	1	0	0	0	0	1	0	0	0	6134	333	12	3	151	3	FZD4	11	86662332	Missense_Mutation	SNP	A	TCGA-CJ-4893-01A-01D-1373-10	13641326	86662332	48344184	26	27664											
GRIN2B	2904	hgsc.bcm.edu	37	12	13716545	13716545	+	Silent	SNP	C	C	G	rs149089581		TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr12:13716545C>G	ENST00000609686.1	-	13	3836	c.3627G>C	c.(3625-3627)cgG>cgC	p.R1209R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1209					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R1209R(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCCCCCGGACCGGTCCTCCC	0.642																																																1	Substitution - coding silent(1)	skin(1)											78	87	84					12																	13716545		2203	4300	6503	SO:0001819	synonymous_variant	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3627G>C	12.37:g.13716545C>G			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																				0.642	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			G	13716545	C	G	13716545	2	3	518	1	0	0	0	0	0	0	0	1	6782	494	18	4		4	GRIN2B	12	13716545	Silent	SNP	C	TCGA-CJ-4893-01A-01D-1373-10		13716545	120135350	27	27665											
DCT	1638	hgsc.bcm.edu	37	13	95121259	95121259	+	Silent	SNP	G	G	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr13:95121259G>A	ENST00000377028.5	-	2	749	c.336C>T	c.(334-336)ggC>ggT	p.G112G	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Silent_p.G112G	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	112					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GACCGGTCCAGCCAAACTTGC	0.483																																																0													121	129	127					13																	95121259		2203	4300	6503	SO:0001819	synonymous_variant	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.336C>T	13.37:g.95121259G>A			Q09GT4	Silent	SNP	ENST00000377028.5	37	CCDS9470.1																																																																																				0.483	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			A	95121259	G	A	95121259	2	1	518	1	0	0	0	0	0	0	0	1	4306	958	34	2		2	DCT	13	95121259	Silent	SNP	G	TCGA-CJ-4893-01A-01D-1373-10		95121259	20048619	28	27666											
C13orf27	93081	hgsc.bcm.edu	37	13	103418816	103418816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr13:103418816C>A	ENST00000376032.4	-	6	808	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	TEX30_ENST00000376027.1_3'UTR|TEX30_ENST00000376022.1_3'UTR|TEX30_ENST00000376019.1_Nonsense_Mutation_p.E166*|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376029.3_3'UTR|TEX30_ENST00000376021.4_Nonsense_Mutation_p.E166*	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	207										lung(1)|urinary_tract(1)	2						GTATTTATTTCTTTGAAAACA	0.363																																																0													116	109	111					13																	103418816		2203	4300	6503	SO:0001587	stop_gained	0			AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 27"	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.619G>T	13.37:g.103418816C>A	ENSP00000365200:p.Glu207*		Q5JUR8|Q96KZ8	Nonsense_Mutation	SNP	ENST00000376032.4	37	CCDS9503.2	.	.	.	.	.	.	.	.	.	.	C	37	6.130195	0.97310	.	.	ENSG00000151287	ENST00000376019;ENST00000376021;ENST00000376032	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-18.2035	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	166;166;207	.	ENSP00000365187:E166X	E	-	1	0	C13orf27	102216817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.588000	0.67517	2.941000	0.99782	0.655000	0.94253	GAA		0.363	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4	NM_138779		A	103418816	C	A	103418816	4	1	518	1	0	0	0	0	0	1	0	0	1725	922	32	4	68	4	C13orf27	13	103418816	Nonsense_Mutation	SNP	C	TCGA-CJ-4893-01A-01D-1373-10	8297557	103418816	11751062	29	27667											
ITGAM	3684	hgsc.bcm.edu;ucsc.edu	37	16	31336054	31336054	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr16:31336054A>G	ENST00000287497.8	+	18	2315	c.2240A>G	c.(2239-2241)aAc>aGc	p.N747S	ITGAM_ENST00000544665.3_Missense_Mutation_p.N748S			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	747					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCTTTCGGGAACCTCCGGCCA	0.577																																																0													60	60	60					16																	31336054		1968	4151	6119	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2240A>G	16.37:g.31336054A>G	ENSP00000287497:p.Asn747Ser		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	A	7.033	0.561020	0.13498	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.46451	0.87;0.87	4.91	4.91	0.64330	Integrin alpha-2 (1);	.	.	.	.	T	0.39860	0.1094	L	0.58969	1.84	0.09310	N	1	B;B;B	0.30851	0.297;0.029;0.029	B;B;B	0.33042	0.157;0.083;0.083	T	0.39881	-0.9592	9	0.56958	D	0.05	.	7.2126	0.25941	0.9027:0.0:0.0973:0.0	.	153;747;747	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	S	748;747	ENSP00000441691:N748S;ENSP00000287497:N747S	ENSP00000287497:N747S	N	+	2	0	ITGAM	31243555	0.351000	0.24887	0.065000	0.19835	0.045000	0.14185	1.657000	0.37366	2.056000	0.61249	0.460000	0.39030	AAC		0.577	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		G	31336054	A	G	31336054	3	3	518	1	0	0	0	0	1	0	0	0	7889	43	2	3	2313	3	ITGAM	16	31336054	Missense_Mutation	SNP	A	TCGA-CJ-4893-01A-01D-1373-10		31336054	59018699	30	27668											
HOXB1	3211	hgsc.bcm.edu	37	17	46608181	46608181	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr17:46608181G>C	ENST00000239174.6	-	1	178	c.86C>G	c.(85-87)aCc>aGc	p.T29S	HOXB1_ENST00000577092.1_Missense_Mutation_p.T29S	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	29					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGAAAGGAGGTTGGGGCGCT	0.622																																																0													60	69	66					17																	46608181		2203	4299	6502	SO:0001583	missense	3211				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.86C>G	17.37:g.46608181G>C	ENSP00000355140:p.Thr29Ser		Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658737	0.47467	.	.	ENSG00000120094	ENST00000239174	D	0.89196	-2.48	5.17	5.17	0.71159	.	0.000000	0.46758	D	0.000264	D	0.84588	0.5505	L	0.42744	1.35	0.33102	D	0.539424	B	0.19445	0.036	B	0.12156	0.007	T	0.80781	-0.1229	10	0.12103	T	0.63	.	18.4599	0.90735	0.0:0.0:1.0:0.0	.	29	P14653	HXB1_HUMAN	S	29	ENSP00000355140:T29S	ENSP00000355140:T29S	T	-	2	0	HOXB1	43963180	0.811000	0.29063	0.998000	0.56505	0.782000	0.44232	3.143000	0.50608	2.689000	0.91719	0.551000	0.68910	ACC		0.622	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			C	46608181	G	C	46608181	3	2	518	1	0	0	0	0	1	0	0	0	7301	1261	44	4	827	4	HOXB1	17	46608181	Missense_Mutation	SNP	G	TCGA-CJ-4893-01A-01D-1373-10		46608181	34587029	31	27669											
GGA3	23163	hgsc.bcm.edu	37	17	73235514	73235514	+	Silent	SNP	C	C	G	rs535140507		TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr17:73235514C>G	ENST00000245541.6	-	14	1938	c.1722G>C	c.(1720-1722)ccG>ccC	p.P574P	GGA3_ENST00000582486.1_Silent_p.P502P|GGA3_ENST00000578348.1_Silent_p.P452P|GGA3_ENST00000582717.1_Silent_p.P502P|GGA3_ENST00000538886.1_Silent_p.P452P|GGA3_ENST00000351904.7_Silent_p.P541P	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	574	Unstructured hinge.		P -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CAGGCCCCTTCGGGGGGCTGC	0.682											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													21	24	23					17																	73235514		2203	4299	6502	SO:0001819	synonymous_variant	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1722G>C	17.37:g.73235514C>G		1143	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Silent	SNP	ENST00000245541.6	37	CCDS11717.1																																																																																				0.682	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		G	73235514	C	G	73235514	2	3	518	1	0	0	0	0	0	0	0	1	6356	871	31	4		4	GGA3	17	73235514	Silent	SNP	C	TCGA-CJ-4893-01A-01D-1373-10	26627333	73235514	7959696	32	27670											
SLC26A11	284129	hgsc.bcm.edu	37	17	78221983	78221983	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr17:78221983A>G	ENST00000361193.3	+	14	1629	c.1349A>G	c.(1348-1350)cAg>cGg	p.Q450R	SLC26A11_ENST00000546047.2_Missense_Mutation_p.Q450R|SLC26A11_ENST00000572725.1_Missense_Mutation_p.Q450R|SLC26A11_ENST00000411502.3_Missense_Mutation_p.Q450R	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGGAGGTGCAGTACGGCATC	0.667																																																0													60	49	53					17																	78221983		2203	4300	6503	SO:0001583	missense	284129				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1349A>G	17.37:g.78221983A>G	ENSP00000355384:p.Gln450Arg			Missense_Mutation	SNP	ENST00000361193.3	37	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446203	0.84101	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93247	-3.19;-3.19;-3.19	4.97	4.97	0.65823	.	0.124866	0.56097	D	0.000028	D	0.93455	0.7912	M	0.71581	2.175	0.51767	D	0.999936	P	0.51351	0.944	P	0.47891	0.56	D	0.93866	0.7158	10	0.87932	D	0	-32.3502	12.1887	0.54254	1.0:0.0:0.0:0.0	.	450	Q86WA9	S2611_HUMAN	R	450	ENSP00000403998:Q450R;ENSP00000440724:Q450R;ENSP00000355384:Q450R	ENSP00000355384:Q450R	Q	+	2	0	SLC26A11	75836578	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	5.051000	0.64257	1.873000	0.54277	0.482000	0.46254	CAG		0.667	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			G	78221983	A	G	78221983	3	3	518	1	0	0	0	0	1	0	0	0	14522	188	7	3	1395	3	SLC26A11	17	78221983	Missense_Mutation	SNP	A	TCGA-CJ-4893-01A-01D-1373-10	4986469	78221983	2973227	33	27671											
SEH1L	81929	hgsc.bcm.edu	37	18	12963339	12963339	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr18:12963339A>C	ENST00000262124.11	+	4	617	c.490A>C	c.(490-492)Agc>Cgc	p.S164R	SEH1L_ENST00000399892.2_Missense_Mutation_p.S164R	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	164					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						ATGTAAGCTAAGCTGTAGTTG	0.368																																																0													196	180	185					18																	12963339		2203	4300	6503	SO:0001583	missense	81929			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.490A>C	18.37:g.12963339A>C	ENSP00000262124:p.Ser164Arg		A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543841	0.65198	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.66460	-0.21;-0.21	5.12	3.93	0.45458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.116151	0.85682	D	0.000000	T	0.57666	0.2069	L	0.43923	1.385	0.42751	D	0.993777	B;B	0.23249	0.025;0.082	B;B	0.24974	0.057;0.036	T	0.53351	-0.8451	10	0.41790	T	0.15	-5.5431	10.8521	0.46775	0.8542:0.0:0.0:0.1458	.	164;164	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	R	164	ENSP00000382779:S164R;ENSP00000262124:S164R	ENSP00000262124:S164R	S	+	1	0	SEH1L	12953339	1.000000	0.71417	0.947000	0.38551	0.980000	0.70556	5.072000	0.64389	0.757000	0.33036	0.460000	0.39030	AGC		0.368	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		C	12963339	A	C	12963339	3	2	518	1	0	0	0	0	1	0	0	0	14015	72	3	5	504	5	SEH1L	18	12963339	Missense_Mutation	SNP	A	TCGA-CJ-4893-01A-01D-1373-10		12963339	65113909	34	27672											
RALGAPB	57148	hgsc.bcm.edu;ucsc.edu	37	20	37150282	37150282	+	Silent	SNP	G	G	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr20:37150282G>A	ENST00000262879.6	+	10	1844	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L	RALGAPB_ENST00000397038.1_Silent_p.L298L|RALGAPB_ENST00000397040.1_Silent_p.L520L|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397042.3_Silent_p.L520L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	520					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTGGGACACTGTGTAGGATTT	0.383																																																0													162	149	153					20																	37150282		2203	4300	6503	SO:0001819	synonymous_variant	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1560G>A	20.37:g.37150282G>A			A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	CCDS13305.1																																																																																				0.383	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		A	37150282	G	A	37150282	2	1	518	1	0	0	0	0	0	0	0	1	13021	1364	48	2		2	RALGAPB	20	37150282	Silent	SNP	G	TCGA-CJ-4893-01A-01D-1373-10		37150282	25875238	35	27673											
RUNX1	861	hgsc.bcm.edu	37	21	36259170	36259170	+	Silent	SNP	G	G	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr21:36259170G>T	ENST00000344691.4	-	1	1817	c.240C>A	c.(238-240)cgC>cgA	p.R80R	RUNX1_ENST00000399240.1_Silent_p.R80R|RUNX1_ENST00000437180.1_Silent_p.R107R|RUNX1_ENST00000300305.3_Silent_p.R107R|RUNX1_ENST00000358356.5_Silent_p.R80R|RUNX1_ENST00000325074.5_Silent_p.R95R|RUNX1_ENST00000486278.2_Silent_p.R83R	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	80	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V90_K117del(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCTTGTTGCAGCGCCAGTGCG	0.701			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											59	57	58					21																	36259170		2203	4300	6503	SO:0001819	synonymous_variant	861			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"aml1 oncogene"	151385	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.240C>A	21.37:g.36259170G>T			A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	CCDS42922.1																																																																																				0.701	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			T	36259170	G	T	36259170	2	4	518	1	0	0	0	0	0	0	0	1	13752	958	34	4		4	RUNX1	21	36259170	Silent	SNP	G	TCGA-CJ-4893-01A-01D-1373-10		36259170	11870725	36	27674											
CACNA1I	8911	hgsc.bcm.edu;ucsc.edu	37	22	40078528	40078528	+	Missense_Mutation	SNP	C	C	T	rs185177048	byFrequency	TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr22:40078528C>T	ENST00000402142.3	+	35	5692	c.5692C>T	c.(5692-5694)Cgt>Tgt	p.R1898C	CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1898C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1863C|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1863C|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1904C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1863C	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1898					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TGAGCCCATGCGTGTGGGAGA	0.592													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19690	0.0		0.001	False		,,,				2504	0.0															0													104	112	109					22																	40078528		2102	4205	6307	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5692C>T	22.37:g.40078528C>T	ENSP00000385019:p.Arg1898Cys		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	5.598	0.295079	0.10622	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96913	-4.15;-4.11;-4.15;-4.11;-4.17;-4.08	4.94	1.44	0.22558	.	4.340870	0.00465	N	0.000104	D	0.91036	0.7180	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.81758	-0.0786	10	0.56958	D	0.05	.	2.6327	0.04949	0.1378:0.4765:0.2105:0.1752	.	1863;1898;1863;1898	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	C	1898;1863;1898;1863;1904;1863	ENSP00000385019:R1898C;ENSP00000384093:R1863C;ENSP00000383887:R1898C;ENSP00000385680:R1863C;ENSP00000337829:R1904C;ENSP00000383028:R1863C	ENSP00000337829:R1904C	R	+	1	0	CACNA1I	38408474	0.002000	0.14202	0.003000	0.11579	0.185000	0.23345	0.655000	0.24933	0.152000	0.19188	-1.814000	0.00607	CGT		0.592	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		T	40078528	C	T	40078528	3	4	518	1	0	0	0	0	1	0	0	0	2548	768	27	1	5830	1	CACNA1I	22	40078528	Missense_Mutation	SNP	C	TCGA-CJ-4893-01A-01D-1373-10		40078528	11226038	37	27675											
HNRNPR	10236	hgsc.bcm.edu;ucsc.edu	37	1	23640079	23640079	+	Missense_Mutation	SNP	A	A	T	rs372162584		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr1:23640079A>T	ENST00000374612.1	-	9	1257	c.1134T>A	c.(1132-1134)ttT>ttA	p.F378L	HNRNPR_ENST00000426846.2_Missense_Mutation_p.F218L|HNRNPR_ENST00000606561.1_Missense_Mutation_p.F239L|HNRNPR_ENST00000302271.6_Missense_Mutation_p.F378L|HNRNPR_ENST00000476660.1_5'Flank|HNRNPR_ENST00000478691.1_Missense_Mutation_p.F280L|HNRNPR_ENST00000374616.3_Missense_Mutation_p.F381L|HNRNPR_ENST00000427764.2_Missense_Mutation_p.F340L	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	378	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAAAATGAACAAATGCATAAT	0.323																																																0													76	80	79					1																	23640079		2201	4299	6500	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1134T>A	1.37:g.23640079A>T	ENSP00000363741:p.Phe378Leu		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	CCDS232.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596313	0.86953	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	D;T;T;T;D	0.82619	-1.63;1.54;1.54;1.54;-1.63	5.75	3.4	0.38934	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.89989	0.6875	M	0.83223	2.63	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;0.99;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.996;0.996;0.999;1.0;0.999	D	0.89713	0.3913	10	0.87932	D	0	.	9.149	0.36951	0.8478:0.0:0.1522:0.0	.	218;340;239;358;378;381	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	L	381;378;378;340;218	ENSP00000363745:F381L;ENSP00000363741:F378L;ENSP00000304405:F378L;ENSP00000392799:F340L;ENSP00000415042:F218L	ENSP00000304405:F378L	F	-	3	2	HNRNPR	23512666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.245000	0.43133	0.959000	0.37980	0.477000	0.44152	TTT		0.323	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		T	23640079	A	T	23640079	3	4	519	1	0	0	0	0	1	0	0	0	7274	127	5	5	779	5	HNRNPR	1	23640079	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10		23640079	225610542	1	27676											
C1orf85	112770	hgsc.bcm.edu	37	1	156264685	156264685	+	Silent	SNP	T	T	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr1:156264685T>G	ENST00000362007.1	-	2	269	c.243A>C	c.(241-243)gtA>gtC	p.V81V	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	81					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGGCCACCATTACCACTGCCA	0.622																																																0													76	82	80					1																	156264685		2203	4300	6503	SO:0001819	synonymous_variant	112770			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"kidney lysosomal membrane protein"					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.243A>C	1.37:g.156264685T>G			A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Silent	SNP	ENST00000362007.1	37	CCDS1139.1																																																																																				0.622	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580		G	156264685	T	G	156264685	2	3	519	1	0	0	0	0	0	0	0	1	2064	1741	61	5		5	C1orf85	1	156264685	Silent	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	132624606	156264685	92985936	2	27677											
SEC16B	89866	hgsc.bcm.edu	37	1	177927420	177927420	+	Silent	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr1:177927420A>C	ENST00000308284.6	-	10	1301	c.1212T>G	c.(1210-1212)ccT>ccG	p.P404P	SEC16B_ENST00000464631.2_Silent_p.P405P|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	404					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGTTGGCCACAGGGGGCTGCC	0.582																																																0													42	46	45					1																	177927420		1972	4159	6131	SO:0001819	synonymous_variant	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1212T>G	1.37:g.177927420A>C			A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	A	8.611	0.889147	0.17540	.	.	ENSG00000120341	ENST00000527976	.	.	.	4.96	-9.92	0.00455	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.45777	D	0.998663	.	.	.	.	.	.	T	0.49890	-0.8891	4	.	.	.	-10.8265	1.6007	0.02673	0.159:0.2898:0.2615:0.2897	.	.	.	.	G	48	.	.	C	-	1	0	AL359075.1	176194043	0.000000	0.05858	0.006000	0.13384	0.990000	0.78478	-7.795000	0.00029	-4.053000	0.00078	-0.350000	0.07774	TGT		0.582	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		C	177927420	A	C	177927420	2	2	519	1	0	0	0	0	0	0	0	1	13993	175	7	5		5	SEC16B	1	177927420	Silent	SNP	A	TCGA-CJ-4894-01A-01D-1373-10	21662735	177927420	71323201	3	27678											
OR6F1	343169	hgsc.bcm.edu	37	1	247875706	247875706	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr1:247875706T>A	ENST00000302084.2	-	1	399	c.352A>T	c.(352-354)Atg>Ttg	p.M118L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCATAAGCCATGGCTGCCAGG	0.517																																																0													85	82	83					1																	247875706		2203	4300	6503	SO:0001583	missense	343169			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.352A>T	1.37:g.247875706T>A	ENSP00000305640:p.Met118Leu		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158259	0.78114	.	.	ENSG00000169214	ENST00000302084	T	0.00892	5.57	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000059	T	0.07098	0.0180	H	0.95402	3.665	0.45005	D	0.998025	P	0.45283	0.855	P	0.57101	0.813	T	0.00151	-1.1985	10	0.72032	D	0.01	-57.2479	12.1482	0.54036	0.0:0.0:0.0:1.0	.	118	Q8NGZ6	OR6F1_HUMAN	L	118	ENSP00000305640:M118L	ENSP00000305640:M118L	M	-	1	0	OR6F1	245942329	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.949000	0.63596	1.793000	0.52555	0.482000	0.46254	ATG		0.517	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		A	247875706	T	A	247875706	3	1	519	1	0	0	0	0	1	0	0	0	11203	1464	51	5	578	5	OR6F1	1	247875706	Missense_Mutation	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	69948286	247875706	1374915	4	27679											
TPO	7173	hgsc.bcm.edu	37	2	1488398	1488398	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:1488398A>T	ENST00000345913.4	+	9	1460	c.1369A>T	c.(1369-1371)Atc>Ttc	p.I457F	TPO_ENST00000346956.3_Missense_Mutation_p.I457F|TPO_ENST00000382201.3_Missense_Mutation_p.I457F|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.I457F|TPO_ENST00000349624.3_Missense_Mutation_p.I284F|TPO_ENST00000382198.1_Missense_Mutation_p.I284F|TPO_ENST00000329066.4_Missense_Mutation_p.I457F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	457					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CATCCCCAGGATCCTGGGACC	0.587																																																0													60	56	58					2																	1488398		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1369A>T	2.37:g.1488398A>T	ENSP00000318820:p.Ile457Phe		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	13.88|13.88	2.368400|2.368400	0.42003|0.42003	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	.|T;T;T;T;T;T;T;T	.|0.76839	.|-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.3|5.3	2.89|2.89	0.33648|0.33648	.|.	.|0.149220	.|0.64402	.|D	.|0.000011	D|D	0.83857|0.83857	0.5345|0.5345	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.997;1.0;0.997;1.0	.|D;D;D;D	.|0.76071	.|0.951;0.982;0.964;0.987	T|T	0.82394|0.82394	-0.0479|-0.0479	6|10	0.54805|0.87932	T|D	0.06|0	-27.5985|-27.5985	9.0734|9.0734	0.36506|0.36506	0.8436:0.0:0.1564:0.0|0.8436:0.0:0.1564:0.0	.|.	.|457;284;457;457	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	V|F	140|457;457;457;284;457;457;284;386	.|ENSP00000337263:I457F;ENSP00000318820:I457F;ENSP00000263886:I457F;ENSP00000332044:I284F;ENSP00000329869:I457F;ENSP00000371636:I457F;ENSP00000371633:I284F;ENSP00000405788:I386F	ENSP00000439133:D140V|ENSP00000329869:I457F	D|I	+|+	2|1	0|0	TPO|TPO	1467405|1467405	1.000000|1.000000	0.71417|0.71417	0.470000|0.470000	0.27216|0.27216	0.118000|0.118000	0.20060|0.20060	4.995000|4.995000	0.63908|0.63908	0.317000|0.317000	0.23160|0.23160	-0.386000|-0.386000	0.06593|0.06593	GAT|ATC		0.587	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		T	1488398	A	T	1488398	3	4	519	1	0	0	0	0	1	0	0	0	16415	333	12	5	1399	5	TPO	2	1488398	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10		1488398	241710975	5	27680											
PRKCE	5581	hgsc.bcm.edu;ucsc.edu	37	2	46211702	46211702	+	Silent	SNP	C	C	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:46211702C>A	ENST00000306156.3	+	6	1033	c.706C>A	c.(706-708)Cgg>Agg	p.R236R		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	236					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GGGCTCCCAGCGGTTCAGCGT	0.552																																																0													127	138	135					2																	46211702		2081	4191	6272	SO:0001819	synonymous_variant	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.706C>A	2.37:g.46211702C>A			B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	ENST00000306156.3	37	CCDS1824.1																																																																																				0.552	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			A	46211702	C	A	46211702	2	1	519	1	0	0	0	0	0	0	0	1	12516	759	27	4		4	PRKCE	2	46211702	Silent	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	44723304	46211702	196987671	6	27681											
MPHOSPH10	10199	hgsc.bcm.edu;ucsc.edu	37	2	71360308	71360308	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:71360308G>T	ENST00000244230.2	+	2	722	c.370G>T	c.(370-372)Gct>Tct	p.A124S	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.A124S|MCEE_ENST00000244217.5_5'Flank	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	124					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGAGATAGAGGCTGATGACAA	0.433																																																0													82	81	81					2																	71360308		2203	4300	6503	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.370G>T	2.37:g.71360308G>T	ENSP00000244230:p.Ala124Ser		A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	7.210	0.595273	0.13875	.	.	ENSG00000124383	ENST00000244230	T	0.10668	2.85	5.01	2.09	0.27110	.	0.477946	0.19852	N	0.104610	T	0.05731	0.0150	L	0.27053	0.805	0.19300	N	0.999979	B;B	0.13145	0.007;0.001	B;B	0.14578	0.011;0.008	T	0.42682	-0.9437	10	0.09843	T	0.71	.	4.8479	0.13523	0.1704:0.0:0.5326:0.297	.	124;124	B3KPV5;O00566	.;MPP10_HUMAN	S	124	ENSP00000244230:A124S	ENSP00000244230:A124S	A	+	1	0	MPHOSPH10	71213816	0.003000	0.15002	0.440000	0.26846	0.547000	0.35210	0.554000	0.23407	0.605000	0.29947	0.455000	0.32223	GCT		0.433	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		T	71360308	G	T	71360308	3	4	519	1	0	0	0	0	1	0	0	0	9727	1203	42	4	376	4	MPHOSPH10	2	71360308	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	25148606	71360308	171839065	7	27682											
RNF149	284996	hgsc.bcm.edu;ucsc.edu	37	2	101898370	101898370	+	Silent	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:101898370C>T	ENST00000295317.3	-	6	1217	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	370					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TGGGATCACACTGTGGCTCAG	0.488																																					Colon(25;331 612 6521 7355 31028)											0													165	150	155					2																	101898370		2203	4300	6503	SO:0001819	synonymous_variant	284996			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1110G>A	2.37:g.101898370C>T			Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Silent	SNP	ENST00000295317.3	37	CCDS2051.1																																																																																				0.488	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		T	101898370	C	T	101898370	2	4	519	1	0	0	0	0	0	0	0	1	13456	564	20	2		2	RNF149	2	101898370	Silent	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	30538062	101898370	141301003	8	27683											
IL1R1	3554	hgsc.bcm.edu;ucsc.edu	37	2	102792950	102792950	+	Missense_Mutation	SNP	G	G	A	rs200215516		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:102792950G>A	ENST00000410023.1	+	12	1759	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	IL1R1_ENST00000409929.1_Missense_Mutation_p.D450N|IL1R1_ENST00000424272.1_3'UTR|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.D481N|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	481	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TCTTGTTCAGGATGGAATTAA	0.408																																																0													71	69	70					2																	102792950		2203	4300	6503	SO:0001583	missense	3554			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1441G>A	2.37:g.102792950G>A	ENSP00000386380:p.Asp481Asn		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188842	0.78789	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.07444	3.19;3.19;3.19	5.61	3.83	0.44106	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.367292	0.33712	N	0.004624	T	0.10252	0.0251	L	0.31207	0.915	0.29985	N	0.817365	P;B	0.40834	0.73;0.095	P;B	0.49477	0.612;0.041	T	0.06752	-1.0809	10	0.27785	T	0.31	.	9.2404	0.37493	0.2178:0.0:0.7822:0.0	.	450;481	B8ZZW4;P14778	.;IL1R1_HUMAN	N	450;481;481	ENSP00000386776:D450N;ENSP00000386380:D481N;ENSP00000233946:D481N	ENSP00000233946:D481N	D	+	1	0	IL1R1	102159382	0.988000	0.35896	0.700000	0.30305	0.995000	0.86356	2.841000	0.48223	0.744000	0.32741	0.563000	0.77884	GAT		0.408	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			A	102792950	G	A	102792950	3	1	519	1	0	0	0	0	1	0	0	0	7660	1174	41	2	1479	2	IL1R1	2	102792950	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	894580	102792950	140406423	9	27684											
ACOXL	55289	hgsc.bcm.edu;ucsc.edu	37	2	111753532	111753532	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:111753532T>A	ENST00000389811.4	+	15	1546	c.1322T>A	c.(1321-1323)tTt>tAt	p.F441Y	ACOXL_ENST00000439055.1_Missense_Mutation_p.F411Y			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	441					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCAGTGAAATTTCGTGAAAGG	0.373																																																0													150	166	161					2																	111753532		2203	4300	6503	SO:0001583	missense	55289				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1322T>A	2.37:g.111753532T>A	ENSP00000374461:p.Phe441Tyr		A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37		.	.	.	.	.	.	.	.	.	.	T	1.315	-0.600987	0.03744	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074;ENST00000441974	T;T;T;T	0.40756	1.02;1.02;1.02;1.05	4.71	3.55	0.40652	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.235838	0.36628	N	0.002498	T	0.23649	0.0572	N	0.13003	0.285	0.80722	D	1	B;B;B	0.34264	0.446;0.392;0.001	B;B;B	0.40165	0.321;0.215;0.006	T	0.10870	-1.0611	10	0.02654	T	1	-24.162	8.5625	0.33520	0.0:0.0924:0.0:0.9076	.	411;411;441	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	Y	441;411;262;249;28	ENSP00000374461:F441Y;ENSP00000407761:F411Y;ENSP00000387832:F249Y;ENSP00000393823:F28Y	ENSP00000374461:F441Y	F	+	2	0	ACOXL	111470003	1.000000	0.71417	0.881000	0.34555	0.475000	0.33008	1.807000	0.38902	0.934000	0.37316	0.459000	0.35465	TTT		0.373	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		A	111753532	T	A	111753532	3	1	519	1	0	0	0	0	1	0	0	0	161	1841	64	5	1282	5	ACOXL	2	111753532	Missense_Mutation	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	8960582	111753532	131445841	10	27685											
NR4A2	4929	hgsc.bcm.edu	37	2	157185033	157185033	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:157185033T>G	ENST00000339562.4	-	4	1239	c.877A>C	c.(877-879)Aaa>Caa	p.K293Q	NR4A2_ENST00000426264.1_Missense_Mutation_p.K230Q|NR4A2_ENST00000429376.1_Missense_Mutation_p.K230Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.K293Q|NR4A2_ENST00000409108.2_Missense_Mutation_p.K293Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.K304Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	293					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TTTGCATTTTTTTGCACTGTG	0.428																																																0													73	72	72					2																	157185033		2203	4300	6503	SO:0001583	missense	4929			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.877A>C	2.37:g.157185033T>G	ENSP00000344479:p.Lys293Gln		Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.70|16.70	3.194630|3.194630	0.58017|0.58017	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376|ENST00000406048	D;D;D;D;D;D|.	0.97480|.	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);|.	0.043726|0.043726	0.85682|0.85682	D|N	0.000000|0.000000	T|T	0.74520|0.74520	0.3727|0.3727	M|M	0.77406|0.77406	2.37|2.37	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.75569|0.75569	-0.3272|-0.3272	10|6	0.87932|.	D|.	0|.	.|.	12.8066|12.8066	0.57618|0.57618	0.1223:0.0:0.0:0.8777|0.1223:0.0:0.0:0.8777	.|.	293|.	P43354|.	NR4A2_HUMAN|.	Q|T	293;230;293;304;293;230|74	ENSP00000344479:K293Q;ENSP00000389986:K230Q;ENSP00000386747:K293Q;ENSP00000444925:K304Q;ENSP00000386993:K293Q;ENSP00000410952:K230Q|.	ENSP00000344479:K293Q|.	K|K	-|-	1|2	0|0	NR4A2|NR4A2	156893279|156893279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.294000|6.294000	0.72738|0.72738	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.428	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			G	157185033	T	G	157185033	3	3	519	1	0	0	0	0	1	0	0	0	10635	1850	64	5	939	5	NR4A2	2	157185033	Missense_Mutation	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	45431501	157185033	86014340	11	27686											
SESTD1	91404	hgsc.bcm.edu	37	2	179997085	179997085	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:179997085A>C	ENST00000428443.3	-	10	1234	c.918T>G	c.(916-918)atT>atG	p.I306M		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	306							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGGAGGCCCTAATGGAGTCTC	0.458																																																0													173	185	181					2																	179997085		2203	4300	6503	SO:0001583	missense	91404			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.918T>G	2.37:g.179997085A>C	ENSP00000415332:p.Ile306Met		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508001	0.44558	.	.	ENSG00000187231	ENST00000428443	T	0.35789	1.29	6.0	-10.5	0.00291	.	0.085529	0.85682	D	0.000000	T	0.12008	0.0292	N	0.03608	-0.345	0.31670	N	0.64452	B	0.18461	0.028	B	0.11329	0.006	T	0.14643	-1.0465	9	.	.	.	-14.8141	17.6689	0.88211	0.1968:0.0:0.7157:0.0875	.	306	Q86VW0	SESD1_HUMAN	M	306	ENSP00000415332:I306M	.	I	-	3	3	SESTD1	179705330	0.001000	0.12720	0.383000	0.26132	0.973000	0.67179	-1.137000	0.03219	-1.972000	0.01001	-0.312000	0.09012	ATT		0.458	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		C	179997085	A	C	179997085	3	2	519	1	0	0	0	0	1	0	0	0	14133	358	13	5	1208	5	SESTD1	2	179997085	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10	22812052	179997085	63202288	12	27687											
PDE1A	5136	hgsc.bcm.edu;ucsc.edu	37	2	183050723	183050723	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr2:183050723G>T	ENST00000410103.1	-	14	1543	c.1460C>A	c.(1459-1461)tCc>tAc	p.S487Y	PDE1A_ENST00000331935.6_Missense_Mutation_p.S487Y|PDE1A_ENST00000536095.1_Missense_Mutation_p.S383Y|PDE1A_ENST00000358139.2_Missense_Mutation_p.S487Y|PDE1A_ENST00000435564.1_Missense_Mutation_p.S487Y|PDE1A_ENST00000346717.4_Missense_Mutation_p.S453Y|PDE1A_ENST00000351439.5_Missense_Mutation_p.S471Y|PDE1A_ENST00000409365.1_Missense_Mutation_p.S471Y|PDE1A_ENST00000456212.1_Missense_Mutation_p.S487Y	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	487	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GTAGTCTGGGGAATAGGACCC	0.463																																																0													200	169	179					2																	183050723		2203	4300	6503	SO:0001583	missense	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1460C>A	2.37:g.183050723G>T	ENSP00000387037:p.Ser487Tyr		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.847098	0.32606	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.72051	-0.56;-0.55;-0.54;-0.55;-0.56;-0.54;-0.55;-0.55;-0.62	5.66	3.69	0.42338	.	0.780519	0.12539	N	0.460124	T	0.62539	0.2436	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B	0.31435	0.013;0.257;0.044;0.323;0.022	B;B;B;B;B	0.38378	0.035;0.187;0.035;0.272;0.077	T	0.56631	-0.7947	10	0.59425	D	0.04	.	7.252	0.26154	0.16:0.0:0.6989:0.141	.	383;453;487;471;487	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	Y	487;453;383;471;487;471;487;487;487	ENSP00000410309:S487Y;ENSP00000329112:S453Y;ENSP00000439938:S383Y;ENSP00000386767:S471Y;ENSP00000331574:S487Y;ENSP00000309269:S471Y;ENSP00000387037:S487Y;ENSP00000350858:S487Y;ENSP00000408874:S487Y	ENSP00000331574:S487Y	S	-	2	0	PDE1A	182758968	0.285000	0.24296	0.054000	0.19295	0.096000	0.18686	1.155000	0.31700	0.741000	0.32674	-0.140000	0.14226	TCC		0.463	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			T	183050723	G	T	183050723	3	4	519	1	0	0	0	0	1	0	0	0	11635	1174	41	4	233	4	PDE1A	2	183050723	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	3053638	183050723	60148650	13	27688											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191507	10191507	+	Missense_Mutation	SNP	G	G	A	rs5030821		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr3:10191507G>A	ENST00000256474.2	+	3	1340	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.R126Q	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	167			R -> G (in VHLD; type I-II). {ECO:0000269|PubMed:9829911}.|R -> Q (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030821). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|R -> W (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030820). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8592333, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R167Q(4)|p.V166fs*6(1)|p.S168fs*2(1)|p.R167fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAGGTTGTCCGGAGCCTAGTC	0.512		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Substitution - Missense(4)|Deletion - Frameshift(3)	kidney(7)	GRCh37	CM941382	VHL	M	rs5030821						91	83	85					3																	10191507		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.500G>A	3.37:g.10191507G>A	ENSP00000256474:p.Arg167Gln		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038474	0.93630	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99826	-6.98;-6.98	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	M	0.68952	2.095	0.43782	A	0.996316	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.97037	0.9754	9	0.62326	D	0.03	-6.8035	15.8663	0.79067	0.0:0.0:1.0:0.0	rs5030821	126;167	P40337-2;P40337	.;VHL_HUMAN	Q	167;126;85	ENSP00000256474:R167Q;ENSP00000344757:R126Q	ENSP00000256474:R167Q	R	+	2	0	VHL	10166507	1.000000	0.71417	0.896000	0.35187	0.797000	0.45037	7.062000	0.76706	2.676000	0.91093	0.655000	0.94253	CGG		0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10191507	G	A	10191507	3	1	519	1	0	0	0	0	1	0	0	0	17167	1116	39	1	510	1	VHL	3	10191507	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10		10191507	187830923	14	27689											
RABL3	285282	hgsc.bcm.edu	37	3	120428688	120428688	+	Silent	SNP	G	G	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr3:120428688G>A	ENST00000273375.3	-	3	236	c.207C>T	c.(205-207)ggC>ggT	p.G69G	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Silent_p.G69G	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	69	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TGCCCACAGAGCCTCCAACAT	0.348																																																0													97	96	96					3																	120428688		2203	4300	6503	SO:0001819	synonymous_variant	285282			BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.207C>T	3.37:g.120428688G>A			Q8WUD3	Silent	SNP	ENST00000273375.3	37	CCDS3001.1																																																																																				0.348	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		A	120428688	G	A	120428688	2	1	519	1	0	0	0	0	0	0	0	1	12978	958	34	2		2	RABL3	3	120428688	Silent	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	110237181	120428688	77593742	15	27690											
HPS3	84343	hgsc.bcm.edu;ucsc.edu	37	3	148858222	148858222	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr3:148858222A>T	ENST00000296051.2	+	2	789	c.649A>T	c.(649-651)Aat>Tat	p.N217Y	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	217					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGGCCCTAAAAATGGAGAGAG	0.378									Hermansky-Pudlak syndrome																																							0													94	95	95					3																	148858222		2194	4300	6494	SO:0001583	missense	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.649A>T	3.37:g.148858222A>T	ENSP00000296051:p.Asn217Tyr		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.633035	0.29068	.	.	ENSG00000163755	ENST00000296051	T	0.64618	-0.11	5.04	1.27	0.21489	.	0.804837	0.11895	N	0.519237	T	0.50871	0.1641	L	0.40543	1.245	0.20703	N	0.999868	P	0.34462	0.454	B	0.36244	0.22	T	0.43988	-0.9357	10	0.54805	T	0.06	-3.6689	6.972	0.24654	0.6249:0.297:0.0781:0.0	.	217	Q969F9	HPS3_HUMAN	Y	217	ENSP00000296051:N217Y	ENSP00000296051:N217Y	N	+	1	0	HPS3	150340912	0.008000	0.16893	0.046000	0.18839	0.648000	0.38561	0.082000	0.14847	0.393000	0.25203	0.528000	0.53228	AAT		0.378	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		T	148858222	A	T	148858222	3	4	519	1	0	0	0	0	1	0	0	0	7342	14	1	5	655	5	HPS3	3	148858222	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10	28429534	148858222	49164208	16	27691											
TET2	54790	hgsc.bcm.edu	37	4	106190890	106190890	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr4:106190890A>C	ENST00000540549.1	+	9	5028	c.4168A>C	c.(4168-4170)Aat>Cat	p.N1390H	TET2_ENST00000513237.1_Missense_Mutation_p.N1411H|TET2_ENST00000380013.4_Missense_Mutation_p.N1390H|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1390					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.N1390fs*59(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAACATGCAGAATGGCAGCAC	0.488			"Mis N, F"		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											70	61	64					4																	106190890		692	1591	2283	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4168A>C	4.37:g.106190890A>C	ENSP00000442788:p.Asn1390His		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098338	0.76870	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.15952	2.38;2.38;2.38	5.62	5.62	0.85841	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.47764	0.1463	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54906	-0.8223	9	0.87932	D	0	-14.1239	15.8317	0.78757	1.0:0.0:0.0:0.0	.	1411;1390	E7EQS8;Q6N021	.;TET2_HUMAN	H	1390;1411;1390	ENSP00000442788:N1390H;ENSP00000425443:N1411H;ENSP00000369351:N1390H	ENSP00000369351:N1390H	N	+	1	0	TET2	106410339	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	6.061000	0.71148	2.152000	0.67230	0.533000	0.62120	AAT		0.488	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		C	106190890	A	C	106190890	3	2	519	1	0	0	0	0	1	0	0	0	15775	246	9	5	4283	5	TET2	4	106190890	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10		106190890	84963386	17	27692											
PDGFC	56034	hgsc.bcm.edu	37	4	157892006	157892006	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr4:157892006C>T	ENST00000502773.1	-	1	540	c.50G>A	c.(49-51)aGa>aAa	p.R17K	PDGFC_ENST00000422544.2_Missense_Mutation_p.R17K|PDGFC_ENST00000541126.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	17					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AGTCCCCTGTCTCTGGCCGGC	0.572											OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													74	80	78					4																	157892006		2203	4300	6503	SO:0001583	missense	56034			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.50G>A	4.37:g.157892006C>T	ENSP00000422464:p.Arg17Lys	1789	B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736496	0.15574	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.15372	2.48;2.43	4.67	2.91	0.33838	.	0.369992	0.19059	N	0.123824	T	0.12347	0.0300	L	0.32530	0.975	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07404	-1.0774	10	0.87932	D	0	-5.602	6.4022	0.21644	0.3235:0.5912:0.0:0.0853	.	17	Q9NRA1	PDGFC_HUMAN	K	17	ENSP00000422464:R17K;ENSP00000410048:R17K	ENSP00000274071:R17K	R	-	2	0	PDGFC	158111456	0.981000	0.34729	0.774000	0.31636	0.399000	0.30720	0.362000	0.20284	0.375000	0.24679	0.460000	0.39030	AGA		0.572	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			T	157892006	C	T	157892006	3	4	519	1	0	0	0	0	1	0	0	0	11661	913	32	2	1011	2	PDGFC	4	157892006	Missense_Mutation	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	51701116	157892006	33262270	18	27693											
ERBB2IP	55914	hgsc.bcm.edu;ucsc.edu	37	5	65350608	65350608	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr5:65350608G>C	ENST00000284037.5	+	21	3851	c.3462G>C	c.(3460-3462)gaG>gaC	p.E1154D	ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E1154D|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E1150D	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1154					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AAATACCAGAGAGAACTATGT	0.423																																																0													63	60	61					5																	65350608		2203	4300	6503	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3462G>C	5.37:g.65350608G>C	ENSP00000284037:p.Glu1154Asp		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.51|14.51	2.556399|2.556399	0.45487|0.45487	.|.	.|.	ENSG00000112851|ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515|ENST00000511671	T;T;T;T;T;T;T;T;T|T	0.72615|0.58506	-0.56;-0.67;-0.65;-0.29;0.59;-0.26;-0.66;-0.51;0.59|0.33	5.57|5.57	2.4|2.4	0.29515|0.29515	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.59810|0.59810	0.2221|0.2221	L|L	0.47190|0.47190	1.495|1.495	0.50632|0.50632	D|D	0.999885|0.999885	D;D;D;D;D;D;D|.	0.89917|.	1.0;0.998;0.997;0.992;0.997;0.999;0.998|.	D;D;D;D;D;D;D|.	0.87578|.	0.998;0.99;0.992;0.986;0.978;0.958;0.994|.	T|T	0.62530|0.62530	-0.6835|-0.6835	10|8	0.66056|0.87932	D|D	0.02|0	.|.	11.238|11.238	0.48953|0.48953	0.2956:0.0:0.7044:0.0|0.2956:0.0:0.7044:0.0	.|.	1154;1154;1154;1150;1154;1154;1154|.	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2|.	.;.;.;.;LAP2_HUMAN;.;.|.	D|Q	1154;1154;1154;1154;1154;1154;1150;1154;1154|50	ENSP00000284037:E1154D;ENSP00000370330:E1154D;ENSP00000370326:E1154D;ENSP00000370323:E1154D;ENSP00000370322:E1154D;ENSP00000370325:E1154D;ENSP00000422766:E1150D;ENSP00000426632:E1154D;ENSP00000422015:E1154D|ENSP00000425728:E50Q	ENSP00000284037:E1154D|ENSP00000425728:E50Q	E|E	+|+	3|1	2|0	ERBB2IP|ERBB2IP	65386364|65386364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.895000|0.895000	0.28363|0.28363	0.729000|0.729000	0.32403|0.32403	-0.142000|-0.142000	0.14014|0.14014	GAG|GAG		0.423	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		C	65350608	G	C	65350608	3	2	519	1	0	0	0	0	1	0	0	0	5209	933	33	4	3536	4	ERBB2IP	5	65350608	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10		65350608	115564652	19	27694											
CENPH	64946	hgsc.bcm.edu;ucsc.edu	37	5	68504122	68504122	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr5:68504122A>G	ENST00000283006.2	+	8	674	c.587A>G	c.(586-588)aAg>aGg	p.K196R	CENPH_ENST00000515001.1_Missense_Mutation_p.K177R	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		GAGAGGATAAAGATCATACGA	0.308																																																0													99	106	103					5																	68504122		2203	4300	6503	SO:0001583	missense	64946			AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.587A>G	5.37:g.68504122A>G	ENSP00000283006:p.Lys196Arg			Missense_Mutation	SNP	ENST00000283006.2	37	CCDS3998.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.710271	0.30322	.	.	ENSG00000153044	ENST00000283006;ENST00000515001	.	.	.	5.2	2.82	0.32997	.	0.173429	0.49916	D	0.000127	T	0.52709	0.1751	M	0.61703	1.905	0.26266	N	0.9785	D;D	0.71674	0.99;0.998	D;D	0.69824	0.921;0.966	T	0.40608	-0.9554	9	0.66056	D	0.02	-18.654	3.9929	0.09545	0.7216:0.0:0.095:0.1834	.	177;196	B3KVZ3;Q9H3R5	.;CENPH_HUMAN	R	196;177	.	ENSP00000283006:K196R	K	+	2	0	CENPH	68539878	0.992000	0.36948	0.654000	0.29608	0.036000	0.12997	2.492000	0.45311	1.057000	0.40506	0.533000	0.62120	AAG		0.308	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215083.1			G	68504122	A	G	68504122	3	3	519	1	0	0	0	0	1	0	0	0	3234	72	3	3	617	3	CENPH	5	68504122	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10	3153514	68504122	112411138	20	27695											
FOXD1	2297	hgsc.bcm.edu	37	5	72743761	72743761	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr5:72743761T>A	ENST00000499003.3	-	1	591	c.427A>T	c.(427-429)Aag>Tag	p.K143*	FOXD1_ENST00000513595.1_5'Flank|RP11-79P5.2_ENST00000514661.1_lincRNA	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	143					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		AGCCGCTTCTTGGGGCTCTGC	0.647																																																0													31	41	38					5																	72743761		2203	4300	6503	SO:0001587	stop_gained	2297			U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"Forkhead boxes"	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.427A>T	5.37:g.72743761T>A	ENSP00000462795:p.Lys143*		Q12949	Nonsense_Mutation	SNP	ENST00000499003.3	37																																																																																					0.647	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000369154.2	NM_004472		A	72743761	T	A	72743761	4	1	519	1	0	0	0	0	0	1	0	0	5998	1821	63	5	972	5	FOXD1	5	72743761	Nonsense_Mutation	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	4239639	72743761	108171499	21	27696											
GLRA1	2741	hgsc.bcm.edu	37	5	151208500	151208500	+	Silent	SNP	C	C	T	rs75463357	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr5:151208500C>T	ENST00000455880.2	-	8	1327	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	GLRA1_ENST00000274576.4_Silent_p.R347R|GLRA1_ENST00000545569.1_Silent_p.R264R			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	347					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTCTCCGCTTCCTCCTGAATC	0.468													C|||	42	0.00838658	0.0008	0.0159	5008	,	,		21283	0.0		0.0258	False		,,,				2504	0.0041															0								C	,	23,4383	30.8+/-60.4	0,23,2180	172	167	169		1041,1041	4.2	1	5	dbSNP_132	169	209,8391	89.2+/-151.4	5,199,4096	no	coding-synonymous,coding-synonymous	GLRA1	NM_000171.3,NM_001146040.1	,	5,222,6276	TT,TC,CC		2.4302,0.522,1.7838	,	347/450,347/458	151208500	232,12774	2203	4300	6503	SO:0001819	synonymous_variant	2741				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1041G>A	5.37:g.151208500C>T			B2R6T3|Q14C77|Q6DJV9	Silent	SNP	ENST00000455880.2	37	CCDS54942.1																																																																																				0.468	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			T	151208500	C	T	151208500	2	4	519	1	0	0	0	0	0	0	0	1	6456	854	30	2		2	GLRA1	5	151208500	Silent	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	78464739	151208500	29706760	22	27697											
FAM135A	57579	hgsc.bcm.edu	37	6	71185160	71185160	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr6:71185160A>G	ENST00000418814.2	+	6	819	c.205A>G	c.(205-207)Agt>Ggt	p.S69G	FAM135A_ENST00000370479.3_Splice_Site|FAM135A_ENST00000505769.1_Missense_Mutation_p.S69G|FAM135A_ENST00000361499.3_Missense_Mutation_p.S69G|FAM135A_ENST00000457062.2_Splice_Site|FAM135A_ENST00000505868.1_Missense_Mutation_p.S69G	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	69										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCTAATTTGCAGTAAAACATT	0.284																																																0													43	45	44					6																	71185160		2195	4271	6466	SO:0001583	missense	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.205A>G	6.37:g.71185160A>G	ENSP00000410768:p.Ser69Gly		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.0|23.0	4.365224|4.365224	0.82463|0.82463	.|.	.|.	ENSG00000082269|ENSG00000082269	ENST00000370479;ENST00000457062|ENST00000418814;ENST00000505769;ENST00000515323;ENST00000361499;ENST00000505868	.|T;T;T;T;T	.|0.79352	.|-1.26;-1.26;-1.26;-1.26;-1.26	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.86961	.|0.6059	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;0.998	.|D;D;D	.|0.87578	.|0.998;0.985;0.994	.|D	.|0.88022	.|0.2769	.|10	.|0.49607	.|T	.|0.09	.|.	15.7723|15.7723	0.78180|0.78180	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|69;69;69	.|D6RC17;Q9P2D6;Q9P2D6-2	.|.;F135A_HUMAN;.	.|G	-1|69	.|ENSP00000410768:S69G;ENSP00000423785:S69G;ENSP00000422406:S69G;ENSP00000354913:S69G;ENSP00000423307:S69G	.|ENSP00000194672:S69G	.|S	+|+	.|1	.|0	FAM135A|FAM135A	71241881|71241881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.287000|9.287000	0.95975|0.95975	2.195000|2.195000	0.70347|0.70347	0.528000|0.528000	0.53228|0.53228	.|AGT		0.284	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		G	71185160	A	G	71185160	3	3	519	1	0	0	0	0	1	0	0	0	5450	202	7	3	215	3	FAM135A	6	71185160	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10		71185160	99929907	23	27698											
KIAA1919	91749	hgsc.bcm.edu;ucsc.edu	37	6	111587971	111587971	+	Silent	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr6:111587971T>A	ENST00000368847.4	+	4	1559	c.1206T>A	c.(1204-1206)ccT>ccA	p.P402P		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	402					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTTATTTCCTGTGCTATATA	0.428																																																0													96	103	100					6																	111587971		2203	4300	6503	SO:0001819	synonymous_variant	91749			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1206T>A	6.37:g.111587971T>A			A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Silent	SNP	ENST00000368847.4	37	CCDS5090.1																																																																																				0.428	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		A	111587971	T	A	111587971	2	1	519	1	0	0	0	0	0	0	0	1	8264	1567	55	5		5	KIAA1919	6	111587971	Silent	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	40402811	111587971	59527096	24	27699											
PTPRK	5796	hgsc.bcm.edu;ucsc.edu	37	6	128643199	128643199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr6:128643199C>T	ENST00000368215.3	-	3	479	c.480G>A	c.(478-480)tgG>tgA	p.W160*	PTPRK_ENST00000368213.5_Nonsense_Mutation_p.W160*|PTPRK_ENST00000368227.3_Nonsense_Mutation_p.W160*|PTPRK_ENST00000525459.1_Nonsense_Mutation_p.W160*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.W160*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.W160*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.W160*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.W160*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	160	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTCATTGGGCCAAAAGGTGC	0.408																																																0													104	100	101					6																	128643199		2203	4300	6503	SO:0001587	stop_gained	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.480G>A	6.37:g.128643199C>T	ENSP00000357198:p.Trp160*		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	ENST00000368215.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.256630|7.256630	0.98168|0.98168	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000490332|ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000525459	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.31888|.	0.0811|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29761|.	-1.0001|.	3|.	.|0.02654	.|T	.|1	.|.	19.3054|19.3054	0.94161|0.94161	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	43|160	.|.	.|ENSP00000357190:W160X	G|W	-|-	2|3	0|0	PTPRK|PTPRK	128684892|128684892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.801000|2.801000	0.96364|0.96364	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.408	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			T	128643199	C	T	128643199	4	4	519	1	0	0	0	0	0	1	0	0	12811	740	26	2	3976	2	PTPRK	6	128643199	Nonsense_Mutation	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	17055228	128643199	42471868	25	27700											
CARD11	84433	hgsc.bcm.edu	37	7	2949758	2949758	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr7:2949758T>A	ENST00000396946.4	-	24	3589	c.3186A>T	c.(3184-3186)agA>agT	p.R1062S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1062	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGATCAAGTCTCTTGTGCAGC	0.587			Mis		DLBCL																																		Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													159	136	144					7																	2949758		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3186A>T	7.37:g.2949758T>A	ENSP00000380150:p.Arg1062Ser		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	T	9.717	1.158580	0.21454	.	.	ENSG00000198286	ENST00000396946	T	0.29917	1.55	4.6	-4.07	0.03975	.	0.159403	0.37437	N	0.002086	T	0.16854	0.0405	L	0.29908	0.895	0.25434	N	0.988151	B	0.09022	0.002	B	0.10450	0.005	T	0.08513	-1.0718	10	0.62326	D	0.03	-2.8488	7.0107	0.24861	0.0:0.4786:0.3032:0.2182	.	1062	Q9BXL7	CAR11_HUMAN	S	1062	ENSP00000380150:R1062S	ENSP00000380150:R1062S	R	-	3	2	CARD11	2916284	0.154000	0.22792	0.056000	0.19401	0.079000	0.17450	-0.678000	0.05209	-0.830000	0.04262	-0.256000	0.11100	AGA		0.587	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		A	2949758	T	A	2949758	3	1	519	1	0	0	0	0	1	0	0	0	2647	1548	54	5	286	5	CARD11	7	2949758	Missense_Mutation	SNP	T	TCGA-CJ-4894-01A-01D-1373-10		2949758	156188905	26	27701											
SDK1	221935	hgsc.bcm.edu;ucsc.edu	37	7	4218135	4218135	+	Missense_Mutation	SNP	G	G	A	rs373316963		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr7:4218135G>A	ENST00000404826.2	+	35	5154	c.5015G>A	c.(5014-5016)cGc>cAc	p.R1672H	SDK1_ENST00000389531.3_Missense_Mutation_p.R1652H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1672	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAGTACCGGCGCTATGAAGTA	0.532																																																0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	100	110	106		5015	4.2	1	7		106	0,8600		0,0,4300	no	missense	SDK1	NM_152744.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1672/2214	4218135	1,13005	2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5015G>A	7.37:g.4218135G>A	ENSP00000385899:p.Arg1672His		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568435	0.45798	2.27E-4	0.0	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57436	0.4;0.4	5.09	4.19	0.49359	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.52853	0.1760	M	0.74881	2.28	0.42644	D	0.993429	P;P;P	0.42649	0.746;0.786;0.611	B;B;B	0.40444	0.262;0.329;0.185	T	0.61584	-0.7033	10	0.59425	D	0.04	.	11.6065	0.51035	0.083:0.0:0.917:0.0	.	1652;159;1672	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	H	1672;1652	ENSP00000385899:R1672H;ENSP00000374182:R1652H	ENSP00000374182:R1652H	R	+	2	0	SDK1	4184661	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	5.808000	0.69165	2.525000	0.85131	0.655000	0.94253	CGC		0.532	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4218135	G	A	4218135	3	1	519	1	0	0	0	0	1	0	0	0	13974	1087	38	1	5153	1	SDK1	7	4218135	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	1268377	4218135	154920528	27	27702											
ZNF680	340252	hgsc.bcm.edu;ucsc.edu	37	7	63982483	63982483	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr7:63982483T>C	ENST00000309683.6	-	4	800	c.649A>G	c.(649-651)Aaa>Gaa	p.K217E	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTAAGAACTTTGCCACATTCC	0.358																																																0													64	65	65					7																	63982483		2203	4299	6502	SO:0001583	missense	340252			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.649A>G	7.37:g.63982483T>C	ENSP00000309330:p.Lys217Glu		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	t	17.19	3.327090	0.60743	.	.	ENSG00000173041	ENST00000309683	T	0.21543	2.0	1.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32194	0.0821	M	0.67953	2.075	0.80722	D	1	D	0.63046	0.992	P	0.58577	0.841	T	0.09465	-1.0673	9	0.62326	D	0.03	.	4.7382	0.12999	0.0:0.0:0.0:1.0	.	217	Q8NEM1	ZN680_HUMAN	E	217	ENSP00000309330:K217E	ENSP00000309330:K217E	K	-	1	0	ZNF680	63619918	0.826000	0.29277	0.148000	0.22405	0.218000	0.24690	2.157000	0.42320	0.588000	0.29660	0.402000	0.26972	AAA		0.358	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		C	63982483	T	C	63982483	3	2	519	1	0	0	0	0	1	0	0	0	18092	1821	63	3	947	3	ZNF680	7	63982483	Missense_Mutation	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	59764348	63982483	95156180	28	27703											
SLC26A4	5172	hgsc.bcm.edu;ucsc.edu	37	7	107335133	107335133	+	Missense_Mutation	SNP	G	G	A	rs200779286	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr7:107335133G>A	ENST00000265715.3	+	12	1633	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	SLC26A4_ENST00000544569.1_Missense_Mutation_p.R57H|SLC26A4_ENST00000541474.1_Missense_Mutation_p.R31H|SLC26A4_ENST00000543100.1_Missense_Mutation_p.R39H|SLC26A4_ENST00000480841.1_3'UTR	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	470					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GACATTCCTCGTCTGTGGAGA	0.418									Pendred syndrome				G|||	2	0.000399361	0.0	0.0	5008	,	,		21267	0.001		0.001	False		,,,				2504	0.0															0			GRCh37	CM086956	SLC26A4	M							165	148	154					7																	107335133		2203	4300	6503	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1409G>A	7.37:g.107335133G>A	ENSP00000265715:p.Arg470His		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	CCDS5746.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.77	1.443663	0.25987	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94723	-3.13;-3.5;-3.13;-3.13	5.76	4.88	0.63580	Sulphate transporter (1);	0.197585	0.45606	N	0.000342	D	0.90123	0.6914	L	0.35723	1.085	0.39179	D	0.962741	B;B;B	0.25235	0.048;0.121;0.031	B;B;B	0.21917	0.014;0.037;0.035	D	0.87203	0.2242	10	0.13853	T	0.58	.	15.1486	0.72677	0.0678:0.0:0.9322:0.0	.	31;57;470	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	H	470;31;57;39	ENSP00000265715:R470H;ENSP00000439743:R31H;ENSP00000437427:R57H;ENSP00000441209:R39H	ENSP00000265715:R470H	R	+	2	0	SLC26A4	107122369	0.992000	0.36948	1.000000	0.80357	0.988000	0.76386	3.008000	0.49544	1.583000	0.49898	0.655000	0.94253	CGT		0.418	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		A	107335133	G	A	107335133	3	1	519	1	0	0	0	0	1	0	0	0	14525	1145	40	1	1451	1	SLC26A4	7	107335133	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	43352650	107335133	51803530	29	27704											
CBLL1	79872	hgsc.bcm.edu	37	7	107393904	107393904	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr7:107393904A>G	ENST00000440859.3	+	3	697	c.230A>G	c.(229-231)gAg>gGg	p.E77G	CBLL1_ENST00000415884.2_Missense_Mutation_p.E77G|CBLL1_ENST00000222597.2_Missense_Mutation_p.E76G	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	77					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AAAGGGGGTGAGCTGTTTGCA	0.299																																																0													67	75	72					7																	107393904		2203	4300	6503	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.230A>G	7.37:g.107393904A>G	ENSP00000401277:p.Glu77Gly		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763105	0.49574	.	.	ENSG00000105879	ENST00000440859;ENST00000222597;ENST00000420796;ENST00000415884;ENST00000417616	T;T;T	0.36340	1.31;1.26;1.33	5.67	5.67	0.87782	.	0.263957	0.37715	N	0.001963	T	0.33089	0.0851	L	0.34521	1.04	0.51233	D	0.999916	B;B	0.32245	0.361;0.361	B;B	0.34652	0.187;0.187	T	0.14615	-1.0466	10	0.59425	D	0.04	-2.3153	15.9124	0.79482	1.0:0.0:0.0:0.0	.	76;77	B7ZM03;Q75N03	.;HAKAI_HUMAN	G	77;76;27;27;23	ENSP00000401277:E77G;ENSP00000222597:E76G;ENSP00000410615:E27G	ENSP00000222597:E76G	E	+	2	0	CBLL1	107181140	1.000000	0.71417	0.330000	0.25442	0.311000	0.27955	8.502000	0.90505	2.164000	0.68074	0.460000	0.39030	GAG		0.299	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		G	107393904	A	G	107393904	3	3	519	1	0	0	0	0	1	0	0	0	2705	304	11	3	240	3	CBLL1	7	107393904	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10	58771	107393904	51744759	30	27705											
ZNF596	169270	hgsc.bcm.edu;ucsc.edu	37	8	195379	195380	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr8:195379_195380insA	ENST00000398612.1	+	6	915_916	c.532_533insA	c.(532-534)caafs	p.Q178fs	ZNF596_ENST00000308811.4_Frame_Shift_Ins_p.Q178fs|ZNF596_ENST00000320552.2_Frame_Shift_Ins_p.Q108fs	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGCCTTTATCCAAAACTCTGCC	0.371																																																0																																										SO:0001589	frameshift_variant	169270			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"Zinc fingers, C2H2-type", "-"	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.536dupA	8.37:g.195383_195383dupA	ENSP00000381613:p.Gln178fs		B2R8P4|O95015|Q8N9X0	Frame_Shift_Ins	INS	ENST00000398612.1	37	CCDS5951.2																																																																																				0.371	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		A	195380	-	A	195379	7	5	519	1	0	1	1	0	0	0	0	0	18031	595	21	0	550	0	ZNF596	8	195379	Frame_Shift_Ins	INS	-	TCGA-CJ-4894-01A-01D-1373-10		195379	146168643	31	27706											
SGCZ	137868	hgsc.bcm.edu	37	8	13959919	13959919	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr8:13959919C>T	ENST00000382080.1	-	7	1425	c.710G>A	c.(709-711)aGg>aAg	p.R237K	SGCZ_ENST00000421524.2_Missense_Mutation_p.R190K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	224					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.R237M(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GAGCTCCTTCCTGCAGGTGGC	0.522																																																1	Substitution - Missense(1)	lung(1)											73	71	72					8																	13959919		2203	4300	6503	SO:0001583	missense	137868			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.710G>A	8.37:g.13959919C>T	ENSP00000371512:p.Arg237Lys		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770481	0.90108	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	T;T	0.11495	2.77;2.77	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	M	0.71581	2.175	0.51012	D	0.999903	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.986	T	0.00677	-1.1614	10	0.24483	T	0.36	.	18.5461	0.91047	0.0:1.0:0.0:0.0	.	190;237	Q08AT0;Q96LD1-2	.;.	K	237;190	ENSP00000371512:R237K;ENSP00000405224:R190K	ENSP00000371512:R237K	R	-	2	0	SGCZ	14004290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.216000	0.77974	2.804000	0.96469	0.650000	0.86243	AGG		0.522	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		T	13959919	C	T	13959919	3	4	519	1	0	0	0	0	1	0	0	0	14210	681	24	2	236	2	SGCZ	8	13959919	Missense_Mutation	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	13764540	13959919	132404103	32	27707											
PKHD1L1	93035	hgsc.bcm.edu;ucsc.edu	37	8	110456096	110456096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr8:110456096G>T	ENST00000378402.5	+	37	4860	c.4756G>T	c.(4756-4758)Gga>Tga	p.G1586*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1586	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACAATTATTGGACATGGCTT	0.318										HNSCC(38;0.096)																																						0													102	98	99					8																	110456096		1818	4076	5894	SO:0001587	stop_gained	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4756G>T	8.37:g.110456096G>T	ENSP00000367655:p.Gly1586*		Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	45	11.971930	0.99622	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.8364	0.88699	0.0:0.0:1.0:0.0	.	.	.	.	X	1586	.	ENSP00000367655:G1586X	G	+	1	0	PKHD1L1	110525272	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	4.717000	0.61923	2.884000	0.98904	0.655000	0.94253	GGA		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110456096	G	T	110456096	4	4	519	1	0	0	0	0	0	1	0	0	11974	1349	47	4	4902	4	PKHD1L1	8	110456096	Nonsense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	96496177	110456096	35907926	33	27708											
FNBP1	23048	hgsc.bcm.edu;ucsc.edu	37	9	132757177	132757177	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr9:132757177T>C	ENST00000446176.2	-	2	271	c.85A>G	c.(85-87)Atc>Gtc	p.I29V	FNBP1_ENST00000420781.1_Missense_Mutation_p.I29V|FNBP1_ENST00000355681.3_Missense_Mutation_p.I29V	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	29	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		ACAAACTTGATATATTTCTCA	0.348			T	MLL	AML																																		Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													228	222	224					9																	132757177		1825	4077	5902	SO:0001583	missense	23048			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.85A>G	9.37:g.132757177T>C	ENSP00000413625:p.Ile29Val		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	T	0.599	-0.829753	0.02734	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.17370	2.28;2.28;2.28	5.55	5.55	0.83447	Fps/Fes/Fer/CIP4 homology (3);	0.046907	0.85682	D	0.000000	T	0.09113	0.0225	N	0.02916	-0.46	0.80722	D	1	B;B;B;B;B	0.20780	0.002;0.048;0.0;0.0;0.04	B;B;B;B;B	0.30179	0.02;0.112;0.009;0.003;0.077	T	0.35151	-0.9800	10	0.17832	T	0.49	-19.8242	14.8746	0.70485	0.0:0.0:0.0:1.0	.	29;29;29;29;29	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q96RU3	.;.;.;.;FNBP1_HUMAN	V	29	ENSP00000413625:I29V;ENSP00000407548:I29V;ENSP00000347907:I29V	ENSP00000347907:I29V	I	-	1	0	FNBP1	131796998	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	2.243000	0.43115	2.098000	0.63641	0.460000	0.39030	ATC		0.348	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			C	132757177	T	C	132757177	3	2	519	1	0	0	0	0	1	0	0	0	5967	1406	49	3	1832	3	FNBP1	9	132757177	Missense_Mutation	SNP	T	TCGA-CJ-4894-01A-01D-1373-10		132757177	8456254	34	27709											
BTAF1	9044	hgsc.bcm.edu;ucsc.edu	37	10	93699745	93699745	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr10:93699745C>T	ENST00000265990.6	+	3	483	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	59					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGGGATACCCGGATTGCAGC	0.378																																																0													66	68	67					10																	93699745		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.175C>T	10.37:g.93699745C>T	ENSP00000265990:p.Arg59Trp		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248679	0.95305	.	.	ENSG00000095564	ENST00000265990	T	0.74842	-0.88	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89801	0.6820	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91330	0.5089	10	0.87932	D	0	-14.2483	19.8677	0.96824	0.0:1.0:0.0:0.0	.	59	O14981	BTAF1_HUMAN	W	59	ENSP00000265990:R59W	ENSP00000265990:R59W	R	+	1	2	BTAF1	93689725	1.000000	0.71417	0.976000	0.42696	0.940000	0.58332	7.678000	0.84035	2.709000	0.92574	0.655000	0.94253	CGG		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		T	93699745	C	T	93699745	3	4	519	1	0	0	0	0	1	0	0	0	1538	643	23	1	185	1	BTAF1	10	93699745	Missense_Mutation	SNP	C	TCGA-CJ-4894-01A-01D-1373-10		93699745	41835002	35	27710											
MRVI1	10335	hgsc.bcm.edu	37	11	10673639	10673639	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:10673639A>T	ENST00000436272.1	-	1	209	c.131T>A	c.(130-132)aTg>aAg	p.M44K	MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.M44K|MRVI1_ENST00000541483.1_Missense_Mutation_p.M53K|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.M53K|MRVI1_ENST00000421747.1_Missense_Mutation_p.M44K|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000532037.1_5'UTR			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	44					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AATGTGGGGCATGGCAGCCTC	0.687																																																0													14	19	17					11																	10673639		2002	4164	6166	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.131T>A	11.37:g.10673639A>T	ENSP00000412229:p.Met44Lys		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37		.	.	.	.	.	.	.	.	.	.	A	23.7	4.446550	0.84101	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000529547	T;T;T;T;T;T	0.59083	2.53;2.48;2.33;1.82;2.53;0.29	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.63165	0.2488	L	0.32530	0.975	0.80722	D	1	D;P;P;D	0.53462	0.96;0.932;0.932;0.96	D;P;P;D	0.66979	0.948;0.888;0.888;0.948	T	0.62006	-0.6945	10	0.39692	T	0.17	-16.8624	11.4764	0.50300	1.0:0.0:0.0:0.0	.	53;44;44;44	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	K	44;44;44;53;53;44;1	ENSP00000414598:M44K;ENSP00000412229:M44K;ENSP00000412130:M53K;ENSP00000437784:M53K;ENSP00000432436:M44K;ENSP00000432325:M1K	ENSP00000307885:M44K	M	-	2	0	MRVI1	10630215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.512000	0.60469	2.205000	0.71048	0.533000	0.62120	ATG		0.687	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		T	10673639	A	T	10673639	3	4	519	1	0	0	0	0	1	0	0	0	9855	217	8	5	2660	5	MRVI1	11	10673639	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10		10673639	124332877	36	27711											
COPB1	1315	hgsc.bcm.edu;ucsc.edu	37	11	14487933	14487933	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:14487933C>T	ENST00000249923.3	-	17	2485	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	COPB1_ENST00000439561.2_Missense_Mutation_p.E729K	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	729					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ACGTAAGCTTCTGCATATACA	0.378																																																0													173	156	162					11																	14487933		2200	4294	6494	SO:0001583	missense	1315			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2185G>A	11.37:g.14487933C>T	ENSP00000249923:p.Glu729Lys		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622535	0.96660	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	D;D	0.81996	-1.56;-1.56	5.48	5.48	0.80851	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94417	0.8204	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95829	0.8856	10	0.87932	D	0	.	19.3415	0.94344	0.0:1.0:0.0:0.0	.	729	P53618	COPB_HUMAN	K	729	ENSP00000249923:E729K;ENSP00000397873:E729K	ENSP00000249923:E729K	E	-	1	0	COPB1	14444509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.576000	0.86940	0.655000	0.94253	GAA		0.378	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		T	14487933	C	T	14487933	3	4	519	1	0	0	0	0	1	0	0	0	3730	922	32	2	700	2	COPB1	11	14487933	Missense_Mutation	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	3814294	14487933	120518583	37	27712	207	2									
COPB1	1315	hgsc.bcm.edu;ucsc.edu	37	11	14487935	14487935	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:14487935G>T	ENST00000249923.3	-	17	2483	c.2183C>A	c.(2182-2184)gCa>gAa	p.A728E	COPB1_ENST00000439561.2_Missense_Mutation_p.A728E	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	728					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTAAGCTTCTGCATATACAGG	0.383																																																0													165	148	154					11																	14487935		2200	4294	6494	SO:0001583	missense	1315			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2183C>A	11.37:g.14487935G>T	ENSP00000249923:p.Ala728Glu		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177613	0.94846	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.56776	0.44;0.44	5.48	5.48	0.80851	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81786	0.4896	H	0.95079	3.62	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.87179	0.2226	10	0.87932	D	0	.	19.3415	0.94344	0.0:0.0:1.0:0.0	.	728	P53618	COPB_HUMAN	E	728	ENSP00000249923:A728E;ENSP00000397873:A728E	ENSP00000249923:A728E	A	-	2	0	COPB1	14444511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.576000	0.86940	0.655000	0.94253	GCA		0.383	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		T	14487935	G	T	14487935	3	4	519	1	0	0	0	0	1	0	0	0	3730	1319	46	4	702	4	COPB1	11	14487935	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	2	14487935	120518581	38	27713	207	2									
PLEKHB1	58473	hgsc.bcm.edu	37	11	73362890	73362890	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:73362890A>C	ENST00000354190.5	+	4	736	c.305A>C	c.(304-306)gAa>gCa	p.E102A	PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.E102A|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.E83A|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.E32A|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.E83A|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.E83A	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	102	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						AACCTACGGGAAGGCGGCCGC	0.602																																																0													32	36	35					11																	73362890		2005	4156	6161	SO:0001583	missense	58473			AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"Pleckstrin homology (PH) domain containing"	19079	protein-coding gene	gene with protein product		607651	"PH domain containing, retinal 1"	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.305A>C	11.37:g.73362890A>C	ENSP00000346127:p.Glu102Ala		A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	ENST00000354190.5	37	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625480	0.46840	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000545798;ENST00000539157;ENST00000546251;ENST00000535582;ENST00000538227;ENST00000539549;ENST00000542185;ENST00000543524;ENST00000541597;ENST00000535129;ENST00000542389;ENST00000540431	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.53	4.53	0.55603	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.181915	0.44483	D	0.000447	T	0.28532	0.0706	L	0.43152	1.355	0.32638	N	0.52113	B;B;B;B	0.33637	0.18;0.028;0.344;0.42	B;B;B;B	0.37304	0.19;0.06;0.228;0.246	T	0.44190	-0.9344	10	0.52906	T	0.07	-1.7058	10.4148	0.44316	1.0:0.0:0.0:0.0	.	83;106;102;102	F5GXN2;Q59EU5;Q9UF11-2;Q9UF11	.;.;.;PKHB1_HUMAN	A	102;102;83;83;32;83;90;83;83;83;83;83;83;83;83;83;90	ENSP00000346127:E102A;ENSP00000381505:E102A;ENSP00000227214:E83A;ENSP00000381507:E83A;ENSP00000441224:E32A;ENSP00000445990:E90A;ENSP00000439714:E83A;ENSP00000438809:E83A;ENSP00000445807:E83A;ENSP00000444453:E83A;ENSP00000442136:E83A;ENSP00000442616:E83A;ENSP00000440102:E83A;ENSP00000441558:E90A	ENSP00000227214:E83A	E	+	2	0	PLEKHB1	73040538	1.000000	0.71417	0.936000	0.37596	0.873000	0.50193	5.488000	0.66869	2.023000	0.59567	0.482000	0.46254	GAA		0.602	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			C	73362890	A	C	73362890	3	2	519	1	0	0	0	0	1	0	0	0	12066	246	9	5	319	5	PLEKHB1	11	73362890	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10	58874955	73362890	61643626	39	27714											
SYTL2	54843	hgsc.bcm.edu;ucsc.edu	37	11	85438961	85438961	+	Silent	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:85438961G>T	ENST00000528231.1	-	7	1714	c.1437C>A	c.(1435-1437)ggC>ggA	p.G479G	SYTL2_ENST00000359152.5_Silent_p.G37G|SYTL2_ENST00000354566.3_5'Flank|SYTL2_ENST00000524452.1_Silent_p.G479G|SYTL2_ENST00000389960.4_Silent_p.G479G|SYTL2_ENST00000316356.4_Silent_p.G480G|SYTL2_ENST00000527523.1_Silent_p.G431G|SYTL2_ENST00000525423.1_5'UTR	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	479					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCTAGAACTGCCACCTGGCA	0.453																																																0													86	78	81					11																	85438961		2203	4299	6502	SO:0001819	synonymous_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1437C>A	11.37:g.85438961G>T			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																				0.453	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		T	85438961	G	T	85438961	2	4	519	1	0	0	0	0	0	0	0	1	15488	1306	46	4		4	SYTL2	11	85438961	Silent	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	12076071	85438961	49567555	40	27715											
TAF1D	79101	hgsc.bcm.edu	37	11	93470348	93470348	+	Missense_Mutation	SNP	G	G	C	rs559531634		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr11:93470348G>C	ENST00000448108.2	-	4	1167	c.517C>G	c.(517-519)Ctg>Gtg	p.L173V	SNORA40_ENST00000388090.1_RNA|TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	173					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GATTCTTTCAGGTGGTGTTCA	0.299																																																0													80	76	77					11																	93470348		2201	4298	6499	SO:0001583	missense	79101				CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"Josephin domain containing 3"	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.517C>G	11.37:g.93470348G>C	ENSP00000410409:p.Leu173Val		Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024233	0.75390	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000008	T	0.79575	0.4469	M	0.71581	2.175	0.52501	D	0.999955	D	0.89917	1.0	D	0.83275	0.996	T	0.80540	-0.1337	9	0.72032	D	0.01	-20.6792	18.7117	0.91659	0.0:0.0:1.0:0.0	.	173	Q9H5J8	TAF1D_HUMAN	V	173	.	ENSP00000314971:L173V	L	-	1	2	TAF1D	93109996	1.000000	0.71417	0.997000	0.53966	0.683000	0.39861	5.985000	0.70556	2.712000	0.92718	0.650000	0.86243	CTG		0.299	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		C	93470348	G	C	93470348	3	2	519	1	0	0	0	0	1	0	0	0	15527	991	35	4	331	4	TAF1D	11	93470348	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	8031387	93470348	41536168	41	27716											
MLF2	8079	hgsc.bcm.edu;ucsc.edu	37	12	6859057	6859057	+	Silent	SNP	C	C	T	rs201104363	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:6859057C>T	ENST00000203630.5	-	7	1160	c.516G>A	c.(514-516)acG>acA	p.T172T	MLF2_ENST00000435120.1_Silent_p.T172T|MLF2_ENST00000539187.1_Silent_p.T172T|MLF2_ENST00000542154.1_Silent_p.T172T|MLF2_ENST00000564181.1_5'Flank			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	172					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T172T(1)		kidney(2)|large_intestine(3)|lung(4)	9						CCTGGTCCCCCGTGCGATGGT	0.612													C|||	12	0.00239617	0.0	0.0	5008	,	,		16205	0.0		0.001	False		,,,				2504	0.0112															1	Substitution - coding silent(1)	lung(1)											109	91	97					12																	6859057		2203	4300	6503	SO:0001819	synonymous_variant	8079			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.516G>A	12.37:g.6859057C>T				Silent	SNP	ENST00000203630.5	37	CCDS8559.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.13	1.844842	0.32606	.	.	ENSG00000089693	ENST00000537126	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.63034	0.2477	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80908	-0.1172	5	0.87932	D	0	.	11.3127	0.49372	0.0696:0.0898:0.1311:0.7095	.	.	.	.	Q	183	.	ENSP00000439789:R183Q	R	-	2	0	MLF2	6729318	0.000000	0.05858	0.093000	0.20910	0.970000	0.65996	-2.378000	0.01068	-3.057000	0.00258	-1.069000	0.02264	CGG		0.612	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			T	6859057	C	T	6859057	2	4	519	1	0	0	0	0	0	0	0	1	9618	639	23	1		1	MLF2	12	6859057	Silent	SNP	C	TCGA-CJ-4894-01A-01D-1373-10		6859057	126992838	42	27717											
TM7SF3	51768	hgsc.bcm.edu;ucsc.edu	37	12	27152583	27152583	+	Silent	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:27152583T>A	ENST00000343028.4	-	3	498	c.273A>T	c.(271-273)acA>acT	p.T91T	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGGCAGTGCCTGTTTCCGAGG	0.468																																																0													121	110	114					12																	27152583		2203	4300	6503	SO:0001819	synonymous_variant	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.273A>T	12.37:g.27152583T>A			B3KMZ3|Q9NUS4	Silent	SNP	ENST00000343028.4	37	CCDS8710.1																																																																																				0.468	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		A	27152583	T	A	27152583	2	1	519	1	0	0	0	0	0	0	0	1	15980	1567	55	5		5	TM7SF3	12	27152583	Silent	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	20293526	27152583	106699312	43	27718											
HOXC10	3226	hgsc.bcm.edu;ucsc.edu	37	12	54383107	54383107	+	Silent	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:54383107C>T	ENST00000303460.4	+	2	980	c.906C>T	c.(904-906)agC>agT	p.S302S	MIR196A2_ENST00000385189.1_RNA|HOXC10_ENST00000511575.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	302					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TGGAGATTAGCAAGACCATTA	0.438											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													79	77	78					12																	54383107		2203	4300	6503	SO:0001819	synonymous_variant	3226				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"Homeoboxes / ANTP class : HOXL subclass"	5122	protein-coding gene	gene with protein product		605560	"homeo box C10"	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.906C>T	12.37:g.54383107C>T		999	O15219|O15220|Q9BVD5	Silent	SNP	ENST00000303460.4	37	CCDS8868.1																																																																																				0.438	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			T	54383107	C	T	54383107	2	4	519	1	0	0	0	0	0	0	0	1	7311	709	25	2		2	HOXC10	12	54383107	Silent	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	27230524	54383107	79468788	44	27719											
GLS2	27165	hgsc.bcm.edu	37	12	56865905	56865905	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:56865905T>G	ENST00000311966.4	-	16	1864	c.1586A>C	c.(1585-1587)gAa>gCa	p.E529A	MIP_ENST00000555551.1_5'Flank|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	529					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TTCAGTACCTTCAGCTGCAGC	0.478																																																0													141	134	136					12																	56865905		2203	4300	6503	SO:0001583	missense	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1586A>C	12.37:g.56865905T>G	ENSP00000310447:p.Glu529Ala		B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.955069	0.92726	.	.	ENSG00000135423	ENST00000311966	T	0.32753	1.44	4.85	4.85	0.62838	Ankyrin repeat-containing domain (4);	0.046667	0.85682	D	0.000000	T	0.44095	0.1277	L	0.42686	1.345	0.80722	D	1	P	0.46952	0.887	P	0.59221	0.854	T	0.36212	-0.9757	10	0.62326	D	0.03	-36.3841	14.0932	0.65004	0.0:0.0:0.0:1.0	.	529	Q9UI32	GLSL_HUMAN	A	529	ENSP00000310447:E529A	ENSP00000310447:E529A	E	-	2	0	GLS2	55152172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.819000	0.69243	2.112000	0.64535	0.533000	0.62120	GAA		0.478	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		G	56865905	T	G	56865905	3	3	519	1	0	0	0	0	1	0	0	0	6466	1783	62	5	234	5	GLS2	12	56865905	Missense_Mutation	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	2482798	56865905	76985990	45	27720											
CLLU1OS	574016	hgsc.bcm.edu	37	12	92816354	92816354	+	Silent	SNP	T	T	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:92816354T>G	ENST00000378487.2	-	2	112	c.111A>C	c.(109-111)gcA>gcC	p.A37A	CLLU1OS_ENST00000538965.1_Silent_p.A37A|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000472839.2_Intron|CLLU1_ENST00000378485.1_5'Flank	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	37										large_intestine(1)|lung(7)	8						gggccccaagtgcagggccat	0.398																																																0													60	61	61					12																	92816354		2203	4298	6501	SO:0001819	synonymous_variant	574016			AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"chronic lymphocytic leukemia up-regulated 1 overlapping strand"				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.111A>C	12.37:g.92816354T>G				Silent	SNP	ENST00000378487.2	37	CCDS31871.1																																																																																				0.398	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			G	92816354	T	G	92816354	2	3	519	1	0	0	0	0	0	0	0	1	3543	1683	59	5		5	CLLU1OS	12	92816354	Silent	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	35950449	92816354	41035541	46	27721											
APPL2	55198	hgsc.bcm.edu;ucsc.edu	37	12	105583814	105583814	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr12:105583814A>C	ENST00000258530.3	-	15	1586	c.1361T>G	c.(1360-1362)aTt>aGt	p.I454S	APPL2_ENST00000551662.1_Missense_Mutation_p.I460S|APPL2_ENST00000539978.2_Missense_Mutation_p.I411S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGGAAGCACAATATCGAATTG	0.458																																																0													119	112	114					12																	105583814		2203	4300	6503	SO:0001583	missense	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1361T>G	12.37:g.105583814A>C	ENSP00000258530:p.Ile454Ser		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618530	0.87359	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T	0.28069	2.44;1.63;2.21	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.99	T	0.58103	-0.7695	10	0.56958	D	0.05	-24.7543	15.9051	0.79423	1.0:0.0:0.0:0.0	.	460;411;454	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	S	454;411;460;2	ENSP00000258530:I454S;ENSP00000444472:I411S;ENSP00000446917:I460S	ENSP00000258530:I454S	I	-	2	0	APPL2	104107944	1.000000	0.71417	0.922000	0.36590	0.932000	0.56968	9.078000	0.94023	2.151000	0.67156	0.456000	0.33151	ATT		0.458	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		C	105583814	A	C	105583814	3	2	519	1	0	0	0	0	1	0	0	0	818	101	4	5	661	5	APPL2	12	105583814	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10	12767460	105583814	28268081	47	27722											
RDH11	51109	hgsc.bcm.edu;ucsc.edu	37	14	68145133	68145133	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr14:68145133G>T	ENST00000381346.4	-	7	972	c.862C>A	c.(862-864)Cat>Aat	p.H288N	RP11-1012A1.4_ENST00000553306.1_Intron|RDH11_ENST00000428130.2_Missense_Mutation_p.H218N|RP11-1012A1.4_ENST00000554493.1_Intron|RDH11_ENST00000553384.1_Missense_Mutation_p.H275N	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	288					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CATGCCACATGACAGTCACTG	0.488																																																0													83	74	77					14																	68145133		2203	4300	6503	SO:0001583	missense	51109			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	17964	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 1", "androgen-regulated short-chain dehydrogenase/reductase 1"	607849	"retinol dehydrogenase 11 (all-trans and 9-cis)"			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.862C>A	14.37:g.68145133G>T	ENSP00000370750:p.His288Asn		A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	37	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621921	0.28889	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.31	2.14	0.27477	NAD(P)-binding domain (1);	0.962394	0.08716	N	0.904233	T	0.35682	0.0940	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.16396	0.005;0.017;0.01	B;B;B	0.19666	0.006;0.026;0.017	T	0.19257	-1.0311	10	0.20519	T	0.43	.	11.6335	0.51189	0.0:0.0:0.3886:0.6114	.	218;275;288	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	N	288;275;218;174	ENSP00000370750:H288N;ENSP00000452079:H275N;ENSP00000416395:H218N;ENSP00000450802:H174N	ENSP00000370750:H288N	H	-	1	0	RDH11	67214886	0.189000	0.23263	0.731000	0.30826	0.837000	0.47467	0.331000	0.19733	0.753000	0.32945	0.650000	0.86243	CAT		0.488	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			T	68145133	G	T	68145133	3	4	519	1	0	0	0	0	1	0	0	0	13196	1290	45	4	98	4	RDH11	14	68145133	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10		68145133	39204407	48	27723											
RAGE	5891	hgsc.bcm.edu;ucsc.edu	37	14	102698939	102698939	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr14:102698939C>G	ENST00000361847.2	-	9	1030	c.799G>C	c.(799-801)Gcc>Ccc	p.A267P	MOK_ENST00000517966.1_5'UTR|MOK_ENST00000523231.1_5'UTR|MOK_ENST00000193029.6_Missense_Mutation_p.A33P|MOK_ENST00000524370.1_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.A266P|MOK_ENST00000519058.1_5'UTR|MOK_ENST00000520266.1_Intron|MOK_ENST00000524214.1_Missense_Mutation_p.A237P|MOK_ENST00000522534.1_5'UTR|MOK_ENST00000522867.1_5'UTR|MOK_ENST00000561150.1_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										GGATCATAGGCCACCATTGCG	0.517																																																0													160	160	160					14																	102698939		2203	4300	6503	SO:0001583	missense	0			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.799G>C	14.37:g.102698939C>G	ENSP00000355304:p.Ala267Pro		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	.	18.81	3.703785	0.68501	.	.	ENSG00000080823	ENST00000193029;ENST00000522874;ENST00000361847;ENST00000524214	T;T;T;T	0.66815	0.89;-0.23;-0.23;-0.23	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.221093	0.40640	N	0.001049	T	0.74935	0.3782	M	0.80422	2.495	0.39511	D	0.968352	P;P	0.52463	0.953;0.916	P;P	0.54026	0.74;0.74	T	0.76963	-0.2764	10	0.41790	T	0.15	-4.9579	9.2087	0.37304	0.0:0.7668:0.1497:0.0835	.	237;267	E7ERR8;Q9UQ07	.;MOK_HUMAN	P	33;266;267;237	ENSP00000193029:A33P;ENSP00000429469:A266P;ENSP00000355304:A267P;ENSP00000428942:A237P	ENSP00000193029:A33P	A	-	1	0	RAGE	101768692	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.463000	0.53050	2.590000	0.87494	0.462000	0.41574	GCC		0.517	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			G	102698939	C	G	102698939	3	3	519	1	0	0	0	0	1	0	0	0	13012	739	26	4	476	4	RAGE	14	102698939	Missense_Mutation	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	34553806	102698939	4650601	49	27724											
BRD7	29117	hgsc.bcm.edu;ucsc.edu	37	16	50373909	50373909	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr16:50373909G>A	ENST00000394688.3	-	6	839	c.680C>T	c.(679-681)tCa>tTa	p.S227L	BRD7_ENST00000394689.2_Missense_Mutation_p.S227L			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	227					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTTCATTCCTGAGTGCAACAG	0.333																																																0													113	114	114					16																	50373909		2198	4298	6496	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.680C>T	16.37:g.50373909G>A	ENSP00000378180:p.Ser227Leu		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465162	0.96257	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.16196	2.36;2.36	5.31	5.31	0.75309	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.66497	0.881;0.944	T	0.07751	-1.0756	10	0.21540	T	0.41	-8.4496	18.9611	0.92678	0.0:0.0:1.0:0.0	.	227;227	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	L	227	ENSP00000378180:S227L;ENSP00000378181:S227L	ENSP00000378180:S227L	S	-	2	0	BRD7	48931410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.496000	0.84212	0.591000	0.81541	TCA		0.333	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		A	50373909	G	A	50373909	3	1	519	1	0	0	0	0	1	0	0	0	1507	1294	45	2	1326	2	BRD7	16	50373909	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10		50373909	39980844	50	27725											
KLHL36	79786	hgsc.bcm.edu;ucsc.edu	37	16	84690712	84690712	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr16:84690712T>A	ENST00000564996.1	+	3	440	c.299T>A	c.(298-300)gTg>gAg	p.V100E	KLHL36_ENST00000258157.5_Missense_Mutation_p.V100E	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	100	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTCAAGGCCGTGGTGGACTTC	0.597																																																0													81	73	75					16																	84690712		2199	4300	6499	SO:0001583	missense	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.299T>A	16.37:g.84690712T>A	ENSP00000456743:p.Val100Glu		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371440	0.61624	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.69685	-0.42	5.79	4.71	0.59529	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.055610	0.64402	D	0.000001	T	0.82157	0.4976	M	0.92784	3.345	0.80722	D	1	D;D	0.57257	0.979;0.962	P;P	0.59703	0.849;0.862	D	0.85829	0.1390	10	0.87932	D	0	.	10.5386	0.45020	0.0:0.0748:0.0:0.9252	.	100;100	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	E	100	ENSP00000258157:V100E	ENSP00000258157:V100E	V	+	2	0	KLHL36	83248213	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	6.134000	0.71689	2.198000	0.70561	0.533000	0.62120	GTG		0.597	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			A	84690712	T	A	84690712	3	1	519	1	0	0	0	0	1	0	0	0	8391	1696	59	5	305	5	KLHL36	16	84690712	Missense_Mutation	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	34316803	84690712	5664041	51	27726											
SMG6	23293	hgsc.bcm.edu;ucsc.edu	37	17	2195864	2195864	+	Silent	SNP	A	A	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:2195864A>T	ENST00000263073.6	-	6	2369	c.2319T>A	c.(2317-2319)gcT>gcA	p.A773A	SMG6_ENST00000544865.1_Silent_p.A742A	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	773					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGCCAGCAAAGCCAACTGGT	0.443																																					Melanoma(59;28 1088 11621 25887 46638 50814)											0													127	133	131					17																	2195864		2203	4300	6503	SO:0001819	synonymous_variant	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2319T>A	17.37:g.2195864A>T			B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	CCDS11016.1																																																																																				0.443	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			T	2195864	A	T	2195864	2	4	519	1	0	0	0	0	0	0	0	1	14803	59	3	5		5	SMG6	17	2195864	Silent	SNP	A	TCGA-CJ-4894-01A-01D-1373-10		2195864	78999346	52	27727											
NEURL4	84461	hgsc.bcm.edu	37	17	7229846	7229846	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:7229846C>G	ENST00000399464.2	-	5	1129	c.1114G>C	c.(1114-1116)Gat>Cat	p.D372H	NEURL4_ENST00000315614.7_Missense_Mutation_p.D372H|NEURL4_ENST00000570460.1_Missense_Mutation_p.D350H	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	372	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACCACTTATCAACAAGCTTG	0.542																																																0													99	106	104					17																	7229846		2035	4180	6215	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1114G>C	17.37:g.7229846C>G	ENSP00000382390:p.Asp372His		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118976	0.77323	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.35605	1.3;1.33	5.28	5.28	0.74379	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.58101	1.795	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.55192	-0.8179	10	0.54805	T	0.06	-24.2076	15.9324	0.79675	0.0:1.0:0.0:0.0	.	372;372	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	H	372	ENSP00000319826:D372H;ENSP00000382390:D372H	ENSP00000319826:D372H	D	-	1	0	NEURL4	7170570	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.192000	0.77771	2.755000	0.94549	0.655000	0.94253	GAT		0.542	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		G	7229846	C	G	7229846	3	3	519	1	0	0	0	0	1	0	0	0	10349	826	29	4	3674	4	NEURL4	17	7229846	Missense_Mutation	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	5033982	7229846	73965364	53	27728											
MYO15A	51168	hgsc.bcm.edu	37	17	18022777	18022777	+	Silent	SNP	G	G	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:18022777G>A	ENST00000205890.5	+	2	1001	c.663G>A	c.(661-663)aaG>aaA	p.K221K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	221					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCCCGCAAGTCGCTGTACG	0.652																																																0													34	38	37					17																	18022777		2068	4195	6263	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.663G>A	17.37:g.18022777G>A			B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				0.652	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		A	18022777	G	A	18022777	2	1	519	1	0	0	0	0	0	0	0	1	10065	1020	36	2		2	MYO15A	17	18022777	Silent	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	10792931	18022777	63172433	54	27729											
DNAJC7	7266	hgsc.bcm.edu;ucsc.edu	37	17	40148372	40148372	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:40148372C>T	ENST00000457167.4	-	4	598	c.362G>A	c.(361-363)aGa>aAa	p.R121K	DNAJC7_ENST00000316603.7_Missense_Mutation_p.R65K|DNAJC7_ENST00000426588.3_Missense_Mutation_p.R65K	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	121					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TTCTAGGGCTCTCTGGAAGCT	0.488																																					Colon(63;618 1117 8600 10857 19751)											0													91	85	87					17																	40148372		1908	4138	6046	SO:0001583	missense	7266			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.362G>A	17.37:g.40148372C>T	ENSP00000406463:p.Arg121Lys		Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	C	7.099	0.573657	0.13623	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.73363	1.45;-0.74;-0.74	5.47	3.11	0.35812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.314639	0.40469	N	0.001081	T	0.38427	0.1040	N	0.01352	-0.895	0.41952	D	0.990669	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.45600	-0.9250	10	0.02654	T	1	-5.7302	8.8846	0.35396	0.0:0.7276:0.0:0.2724	.	110;65;121	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	K	121;65;65	ENSP00000406463:R121K;ENSP00000394327:R65K;ENSP00000313311:R65K	ENSP00000313311:R65K	R	-	2	0	DNAJC7	37401898	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.476000	0.35420	1.438000	0.47492	0.655000	0.94253	AGA		0.488	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			T	40148372	C	T	40148372	3	4	519	1	0	0	0	0	1	0	0	0	4656	913	32	2	1166	2	DNAJC7	17	40148372	Missense_Mutation	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	22125595	40148372	41046838	55	27730											
GOSR2	9570	hgsc.bcm.edu;ucsc.edu	37	17	45006907	45006907	+	Silent	SNP	T	T	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:45006907T>C	ENST00000393456.2	+	2	108	c.51T>C	c.(49-51)tcT>tcC	p.S17S	GOSR2_ENST00000415811.2_Silent_p.S17S|GOSR2_ENST00000225567.4_Silent_p.S17S|GOSR2_ENST00000576910.2_Silent_p.S17S|RP11-156P1.2_ENST00000571841.1_Silent_p.S17S|GOSR2_ENST00000439730.2_Silent_p.S17S|GOSR2_ENST00000575949.1_Silent_p.S17S	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	17					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			AGATCCAGTCTTGCATGGGAC	0.493																																																0													100	84	89					17																	45006907		2203	4300	6503	SO:0001819	synonymous_variant	9570			AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.51T>C	17.37:g.45006907T>C			D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Silent	SNP	ENST00000393456.2	37	CCDS42355.1																																																																																				0.493	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			C	45006907	T	C	45006907	2	2	519	1	0	0	0	0	0	0	0	1	6580	1596	56	3		3	GOSR2	17	45006907	Silent	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	4858535	45006907	36188303	56	27731											
KIF2B	84643	hgsc.bcm.edu	37	17	51900836	51900836	+	Missense_Mutation	SNP	C	C	T	rs59657238	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:51900836C>T	ENST00000268919.4	+	1	598	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	148			P -> S (in dbSNP:rs59657238).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAAAAGTCTCCCTGCCTCTG	0.567													C|||	293	0.0585064	0.1483	0.0259	5008	,	,		17038	0.001		0.0626	False		,,,				2504	0.0153															0								C	SER/PRO	497,3909	211.5+/-231.7	22,453,1728	53	57	55		442	0.3	0.3	17	dbSNP_129	55	446,8154	126.7+/-185.1	12,422,3866	yes	missense	KIF2B	NM_032559.4	74	34,875,5594	TT,TC,CC		5.186,11.2801,7.2505	benign	148/674	51900836	943,12063	2203	4300	6503	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.442C>T	17.37:g.51900836C>T	ENSP00000268919:p.Pro148Ser		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	144	0.06593406593406594	83	0.16869918699186992	13	0.03591160220994475	0	0.0	48	0.0633245382585752	C	0.971	-0.700139	0.03279	0.112801	0.05186	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.72725	-0.68	4.99	0.323	0.15893	.	0.317263	0.22194	N	0.063336	T	0.00144	0.0004	N	0.11927	0.2	0.36768	P	0.11636500000000005	B	0.20887	0.049	B	0.16722	0.016	T	0.03112	-1.1071	9	0.07482	T	0.82	.	3.98	0.09490	0.2754:0.4093:0.2414:0.0739	rs59657238;rs62069524	148	Q8N4N8	KIF2B_HUMAN	S	148;71	ENSP00000268919:P148S	ENSP00000268919:P148S	P	+	1	0	KIF2B	49255835	0.000000	0.05858	0.291000	0.24904	0.377000	0.30045	0.255000	0.18333	0.023000	0.15187	-0.136000	0.14681	CCC		0.567	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		T	51900836	C	T	51900836	3	4	519	1	0	0	0	0	1	0	0	0	8300	855	30	2	444	2	KIF2B	17	51900836	Missense_Mutation	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	6893929	51900836	29294374	57	27732											
TEX14	56155	hgsc.bcm.edu	37	17	56638928	56638928	+	Silent	SNP	T	T	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:56638928T>A	ENST00000240361.8	-	30	4333	c.4248A>T	c.(4246-4248)ccA>ccT	p.P1416P	TEX14_ENST00000389934.3_Silent_p.P1410P|TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000349033.5_Silent_p.P1370P			Q8IWB6	TEX14_HUMAN	testis expressed 14	1416					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTCCTCAGGTGGCTGCAGCC	0.498																																																0													143	138	140					17																	56638928		2203	4300	6503	SO:0001819	synonymous_variant	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4248A>T	17.37:g.56638928T>A			A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																				0.498	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			A	56638928	T	A	56638928	2	1	519	1	0	0	0	0	0	0	0	1	15783	1683	59	5		5	TEX14	17	56638928	Silent	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	4738092	56638928	24556282	58	27733											
NAT9	26151	hgsc.bcm.edu;ucsc.edu	37	17	72769044	72769044	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr17:72769044T>C	ENST00000357814.3	-	4	398	c.325A>G	c.(325-327)Atg>Gtg	p.M109V	NAT9_ENST00000581136.1_Missense_Mutation_p.M109V|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000580301.1_Missense_Mutation_p.M108V|NAT9_ENST00000583757.1_Missense_Mutation_p.M108V|NAT9_ENST00000580632.1_Missense_Mutation_p.M108V|NAT9_ENST00000582524.1_Missense_Mutation_p.M109V|NAT9_ENST00000578822.1_Missense_Mutation_p.M114V|NAT9_ENST00000582870.1_Missense_Mutation_p.M113V|NAT9_ENST00000583476.1_Missense_Mutation_p.M109V	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	109	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						CCTGCAATCATGACCTCGATC	0.592																																																0													126	99	108					17																	72769044		2203	4300	6503	SO:0001583	missense	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.325A>G	17.37:g.72769044T>C	ENSP00000350467:p.Met109Val		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	ENST00000357814.3	37	CCDS11706.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515369	0.44763	.	.	ENSG00000109065	ENST00000357814	T	0.45668	0.89	5.41	5.41	0.78517	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.115651	0.85682	D	0.000000	T	0.68522	0.3010	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.978	T	0.72606	-0.4242	10	0.45353	T	0.12	-35.1353	15.4037	0.74861	0.0:0.0:0.0:1.0	.	108;109	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	V	109	ENSP00000350467:M109V	ENSP00000350467:M109V	M	-	1	0	NAT9	70280639	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.942000	0.87708	2.172000	0.68678	0.533000	0.62120	ATG		0.592	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654		C	72769044	T	C	72769044	3	2	519	1	0	0	0	0	1	0	0	0	10184	1464	51	3	314	3	NAT9	17	72769044	Missense_Mutation	SNP	T	TCGA-CJ-4894-01A-01D-1373-10	16130116	72769044	8426166	59	27734											
TAF4B	6875	hgsc.bcm.edu;ucsc.edu	37	18	23969945	23969945	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr18:23969945C>T	ENST00000269142.5	+	15	3556	c.2558C>T	c.(2557-2559)tCt>tTt	p.S853F	TAF4B_ENST00000578121.1_Missense_Mutation_p.S858F	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	853	Required for interaction with TAF12.				gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ATGAAGTATTCTCGAGCTCTA	0.468																																																0													128	126	127					18																	23969945		1918	4127	6045	SO:0001583	missense	6875			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2558C>T	18.37:g.23969945C>T	ENSP00000269142:p.Ser853Phe		Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881948	0.33255	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	T	0.51071	0.72	5.71	4.83	0.62350	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.963	T	0.76291	-0.3013	10	0.87932	D	0	-12.2244	16.0234	0.80516	0.1354:0.8646:0.0:0.0	.	853;858	Q92750;A4PBF7	TAF4B_HUMAN;.	F	856;853	ENSP00000269142:S853F	ENSP00000269142:S853F	S	+	2	0	TAF4B	22223943	1.000000	0.71417	0.037000	0.18230	0.938000	0.57974	5.677000	0.68142	1.391000	0.46566	0.644000	0.83932	TCT		0.468	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		T	23969945	C	T	23969945	3	4	519	1	0	0	0	0	1	0	0	0	15532	913	32	2	2616	2	TAF4B	18	23969945	Missense_Mutation	SNP	C	TCGA-CJ-4894-01A-01D-1373-10		23969945	54107303	60	27735											
ALPK2	115701	hgsc.bcm.edu;ucsc.edu	37	18	56246200	56246200	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr18:56246200G>A	ENST00000361673.3	-	4	2021	c.1808C>T	c.(1807-1809)gCt>gTt	p.A603V	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	603						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGTTGAAATAGCACATTCTCT	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													170	150	157					18																	56246200		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1808C>T	18.37:g.56246200G>A	ENSP00000354991:p.Ala603Val	1014	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324601	0.60634	.	.	ENSG00000198796	ENST00000361673	T	0.53423	0.62	5.28	-3.11	0.05299	.	1.982170	0.02667	N	0.108185	T	0.37100	0.0991	L	0.58101	1.795	0.09310	N	1	B	0.27997	0.197	B	0.28638	0.092	T	0.04915	-1.0918	10	0.18276	T	0.48	1.1618	0.4214	0.00456	0.2307:0.244:0.276:0.2493	.	603	Q86TB3	ALPK2_HUMAN	V	603	ENSP00000354991:A603V	ENSP00000354991:A603V	A	-	2	0	ALPK2	54397180	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.300000	0.19156	-0.607000	0.05738	-0.150000	0.13652	GCT		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		A	56246200	G	A	56246200	3	1	519	1	0	0	0	0	1	0	0	0	545	971	34	2	4744	2	ALPK2	18	56246200	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	32276255	56246200	21831048	61	27736											
DPY19L3	147991	hgsc.bcm.edu	37	19	32949399	32949399	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr19:32949399G>C	ENST00000342179.5	+	12	1521	c.1306G>C	c.(1306-1308)Gcc>Ccc	p.A436P	DPY19L3_ENST00000586987.1_Missense_Mutation_p.A436P|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.A436P	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	436						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					ATTCGTTGTTGCCTTTCATAA	0.358																																																0													198	197	197					19																	32949399		2203	4300	6503	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1306G>C	19.37:g.32949399G>C	ENSP00000344937:p.Ala436Pro		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951389	0.53186	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.56103	0.48;0.48	6.04	6.04	0.98038	.	0.051703	0.85682	D	0.000000	T	0.62183	0.2407	M	0.62723	1.935	0.44055	D	0.996795	D	0.56287	0.975	P	0.54965	0.765	T	0.56774	-0.7923	10	0.28530	T	0.3	-9.2336	13.7888	0.63126	0.0696:0.0:0.9304:0.0	.	436	Q6ZPD9	D19L3_HUMAN	P	436	ENSP00000376081:A436P;ENSP00000344937:A436P	ENSP00000315672:A436P	A	+	1	0	DPY19L3	37641239	1.000000	0.71417	0.973000	0.42090	0.396000	0.30629	4.959000	0.63666	2.881000	0.98747	0.650000	0.86243	GCC		0.358	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		C	32949399	G	C	32949399	3	2	519	1	0	0	0	0	1	0	0	0	4744	1319	46	4	1348	4	DPY19L3	19	32949399	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10		32949399	26179584	62	27737											
C19orf54	284325	hgsc.bcm.edu	37	19	41250530	41250530	+	Missense_Mutation	SNP	G	G	A	rs199634087		TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr19:41250530G>A	ENST00000378313.2	-	3	570	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000339153.3_Missense_Mutation_p.P20L|C19orf54_ENST00000598729.1_Missense_Mutation_p.P20L|C19orf54_ENST00000470681.1_Missense_Mutation_p.P13S|C19orf54_ENST00000598485.2_Missense_Mutation_p.P20L	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	151										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCTCCAGGGGGACGCCACTG	0.612																																																0								G	SER/PRO	0,4406		0,0,2203	67	54	59		451	4.6	0.8	19		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	C19orf54	NM_198476.3	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	151/352	41250530	1,13005	2203	4300	6503	SO:0001583	missense	284325			AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.451C>T	19.37:g.41250530G>A	ENSP00000367564:p.Pro151Ser		A8MSZ5|B4DNU7	Missense_Mutation	SNP	ENST00000378313.2	37	CCDS12564.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	7.031|7.031	0.560550|0.560550	0.13498|0.13498	0.0|0.0	1.16E-4|1.16E-4	ENSG00000188493|ENSG00000188493	ENST00000339153|ENST00000378313	.|.	.|.	.|.	5.83|5.83	4.57|4.57	0.56435|0.56435	.|.	1.444980|1.444980	0.04033|0.04033	N|N	0.301831|0.301831	T|T	0.20170|0.20170	0.0485|0.0485	N|N	0.04994|0.04994	-0.135|-0.135	0.26804|0.26804	N|N	0.969145|0.969145	B|P;B	0.09022|0.45715	0.002|0.865;0.041	B|P;B	0.08055|0.46585	0.003|0.521;0.022	T|T	0.18116|0.18116	-1.0347|-1.0347	9|9	0.02654|0.02654	T|T	1|1	-8.7314|-8.7314	9.0082|9.0082	0.36124|0.36124	0.2118:0.0:0.7882:0.0|0.2118:0.0:0.7882:0.0	.|.	20|13;151	Q5BKX5-3|Q6ZWG5;Q5BKX5	.|.;CS054_HUMAN	L|S	20|151	.|.	ENSP00000341122:P20L|ENSP00000367564:P151S	P|P	-|-	2|1	0|0	C19orf54|C19orf54	45942370|45942370	0.995000|0.995000	0.38212|0.38212	0.753000|0.753000	0.31225|0.31225	0.623000|0.623000	0.37688|0.37688	2.471000|2.471000	0.45127|0.45127	1.134000|1.134000	0.42165|0.42165	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.612	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		A	41250530	G	A	41250530	3	1	519	1	0	0	0	0	1	0	0	0	1938	1232	43	2	620	2	C19orf54	19	41250530	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	8301131	41250530	17878453	63	27738											
CD177	57126	hgsc.bcm.edu	37	19	43857873	43857873	+	RNA	SNP	G	G	C	rs45441892	byFrequency	TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr19:43857873G>C	ENST00000607517.1	+	0	63				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GGTCATGAGCGCGGTATTACT	0.577													C|||	2302	0.459665	0.3147	0.4726	5008	,	,		16037	0.7173		0.3519	False		,,,				2504	0.4918															0								C	PRO/ALA	1150,2668		190,770,949	81	79	80		7	-3.7	0	19	dbSNP_127	80	2835,5397		479,1877,1760	yes	missense	CD177	NM_020406.2	27	669,2647,2709	CC,CG,GG		34.4388,30.1205,33.0705	benign	3/438	43857873	3985,8065	1909	4116	6025			57126			AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"CD molecules"	30072	protein-coding gene	gene with protein product	"polycythemia rubra vera 1"	162860	"CD177 antigen"			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43857873G>C			Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Missense_Mutation	SNP	ENST00000607517.1	37		985	0.451007326007326	168	0.34146341463414637	163	0.45027624309392267	392	0.6853146853146853	262	0.34564643799472294	c	0.073	-1.197988	0.01594	0.301205	0.344388	ENSG00000204936	ENST00000378009;ENST00000378012;ENST00000457794	T;T;T	0.14640	3.07;2.49;2.49	3.42	-3.7	0.04437	.	.	.	.	.	T	0.00012	0.0000	N	0.00092	-2.175	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37407	-0.9707	8	0.02654	T	1	.	4.7527	0.13068	0.0:0.2645:0.2979:0.4376	rs45441892;rs62113734	3	Q8N6Q3	CD177_HUMAN	P	3	ENSP00000367248:A3P;ENSP00000367251:A3P;ENSP00000388794:A3P	ENSP00000367248:A3P	A	+	1	0	CD177	48549713	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.873000	0.01637	-0.973000	0.03555	-1.086000	0.02197	GCG		0.577	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		C	43857873	G	C	43857873	1	2	519	0	1	0	0	0	0	0	0	0	2973	1087	38	4		4	CD177	19	43857873	RNA	SNP	G	TCGA-CJ-4894-01A-01D-1373-10	2607343	43857873	15271110	64	27739											
ACSS1	84532	hgsc.bcm.edu	37	20	25003643	25003643	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr20:25003643G>A	ENST00000323482.4	-	5	972	c.893C>T	c.(892-894)aCc>aTc	p.T298I	ACSS1_ENST00000542618.1_Missense_Mutation_p.T177I|ACSS1_ENST00000432802.2_Missense_Mutation_p.T298I|ACSS1_ENST00000537502.1_Missense_Mutation_p.T215I	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	298					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGCATTCCGGTGCTCCCTGA	0.617																																																0													80	60	67					20																	25003643		2203	4300	6503	SO:0001583	missense	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.893C>T	20.37:g.25003643G>A	ENSP00000316924:p.Thr298Ile		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703649	0.68501	.	.	ENSG00000154930	ENST00000323482;ENST00000537502;ENST00000432802;ENST00000542618	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.57	5.57	0.84162	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93956	0.8065	H	0.98178	4.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.95903	0.8917	10	0.87932	D	0	-31.9452	18.1312	0.89602	0.0:0.0:1.0:0.0	.	298;298;215	Q9NUB1-2;Q9NUB1;Q6ZV30	.;ACS2L_HUMAN;.	I	298;215;298;177	ENSP00000316924:T298I;ENSP00000439304:T215I;ENSP00000388793:T298I;ENSP00000437657:T177I	ENSP00000316924:T298I	T	-	2	0	ACSS1	24951643	1.000000	0.71417	0.966000	0.40874	0.197000	0.23852	9.361000	0.97122	2.642000	0.89623	0.462000	0.41574	ACC		0.617	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		A	25003643	G	A	25003643	3	1	519	1	0	0	0	0	1	0	0	0	188	1261	44	2	1216	2	ACSS1	20	25003643	Missense_Mutation	SNP	G	TCGA-CJ-4894-01A-01D-1373-10		25003643	38021877	65	27740											
CHD6	84181	hgsc.bcm.edu;ucsc.edu	37	20	40116335	40116335	+	Silent	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr20:40116335C>T	ENST00000373233.3	-	14	2148	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	657	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCCAAATTCCTCCAAGAAAG	0.443																																																0													101	104	103					20																	40116335		2203	4300	6503	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1971G>A	20.37:g.40116335C>T			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				0.443	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			T	40116335	C	T	40116335	2	4	519	1	0	0	0	0	0	0	0	1	3331	680	24	2		2	CHD6	20	40116335	Silent	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	15112692	40116335	22909185	66	27741											
FITM2	128486	hgsc.bcm.edu;ucsc.edu	37	20	42935614	42935614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr20:42935614C>T	ENST00000396825.3	-	2	460	c.440G>A	c.(439-441)tGg>tAg	p.W147*		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	147					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						AAAGCCATGCCAAAAGCCCCC	0.567																																																0													124	89	101					20																	42935614		2203	4300	6503	SO:0001587	stop_gained	128486			BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"fat inducing transcript 2"	612029	"chromosome 20 open reading frame 142"	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.440G>A	20.37:g.42935614C>T	ENSP00000380037:p.Trp147*		A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Nonsense_Mutation	SNP	ENST00000396825.3	37	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531516	0.96446	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8405	0.96681	0.0:1.0:0.0:0.0	.	.	.	.	X	147	.	ENSP00000380037:W147X	W	-	2	0	FITM2	42369028	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	7.398000	0.79919	2.671000	0.90904	0.655000	0.94253	TGG		0.567	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		T	42935614	C	T	42935614	4	4	519	1	0	0	0	0	0	1	0	0	5901	595	21	2	352	2	FITM2	20	42935614	Nonsense_Mutation	SNP	C	TCGA-CJ-4894-01A-01D-1373-10	2819279	42935614	20089906	67	27742											
ZNF831	128611	hgsc.bcm.edu	37	20	57782032	57782032	+	Silent	SNP	A	A	G			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr20:57782032A>G	ENST00000371030.2	+	3	3948	c.3948A>G	c.(3946-3948)cgA>cgG	p.R1316R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1316							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTGGGTGCGAAGAAGAAGCC	0.537																																																0													77	83	81					20																	57782032		1941	4141	6082	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3948A>G	20.37:g.57782032A>G			Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.537	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		G	57782032	A	G	57782032	2	3	519	1	0	0	0	0	0	0	0	1	18190	233	9	3		3	ZNF831	20	57782032	Silent	SNP	A	TCGA-CJ-4894-01A-01D-1373-10	14846418	57782032	5243488	68	27743											
LIMK2	3985	hgsc.bcm.edu	37	22	31658681	31658681	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chr22:31658681T>C	ENST00000331728.4	+	7	872	c.758T>C	c.(757-759)cTc>cCc	p.L253P	LIMK2_ENST00000333611.4_Missense_Mutation_p.L232P|LIMK2_ENST00000406516.1_Missense_Mutation_p.L175P|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.L232P	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	253					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAGGCCCGGCTCGCTCCTCAC	0.612																																																0													65	63	64					22																	31658681		2203	4300	6503	SO:0001583	missense	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.758T>C	22.37:g.31658681T>C	ENSP00000332687:p.Leu253Pro		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444361	0.43429	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.75477	-0.94;-0.78;-0.84;-0.91	5.53	5.53	0.82687	.	0.193453	0.45867	D	0.000339	T	0.72977	0.3528	M	0.61703	1.905	0.80722	D	1	P;B;B;P	0.49961	0.588;0.002;0.203;0.93	B;B;B;P	0.44732	0.195;0.002;0.122;0.459	T	0.71922	-0.4446	10	0.26408	T	0.33	-26.804	13.3924	0.60830	0.0:0.0:0.0:1.0	.	285;232;253;175	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	P	175;253;285;232;232	ENSP00000384602:L175P;ENSP00000332687:L253P;ENSP00000330470:L232P;ENSP00000339916:L232P	ENSP00000332687:L253P	L	+	2	0	LIMK2	29988681	0.998000	0.40836	1.000000	0.80357	0.485000	0.33311	4.686000	0.61700	2.100000	0.63781	0.482000	0.46254	CTC		0.612	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		C	31658681	T	C	31658681	3	2	519	1	0	0	0	0	1	0	0	0	8804	1551	54	3	841	3	LIMK2	22	31658681	Missense_Mutation	SNP	T	TCGA-CJ-4894-01A-01D-1373-10		31658681	19645885	69	27744											
TRPC5	7224	hgsc.bcm.edu	37	X	111090368	111090368	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4894-01A-01D-1373-10	TCGA-CJ-4894-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	096cee87-c528-4b13-8e6f-7e4a1dae1260	f5e4b1f9-d5e5-4b42-8d8e-831c05287971	g.chrX:111090368A>C	ENST00000262839.2	-	6	2592	c.1674T>G	c.(1672-1674)tgT>tgG	p.C558W		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	558					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTGTTTCTCACATCGGATCC	0.408																																																0													164	136	145					X																	111090368		2203	4300	6503	SO:0001583	missense	7224			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1674T>G	X.37:g.111090368A>C	ENSP00000262839:p.Cys558Trp		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986455	0.53934	.	.	ENSG00000072315	ENST00000262839	D	0.98280	-4.84	5.36	4.13	0.48395	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98782	0.9590	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.98552	1.0637	10	0.87932	D	0	-12.8118	7.2209	0.25985	0.7364:0.0:0.2636:0.0	.	559;558	Q59G51;Q9UL62	.;TRPC5_HUMAN	W	558	ENSP00000262839:C558W	ENSP00000262839:C558W	C	-	3	2	TRPC5	110977024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.729000	0.47327	0.631000	0.30412	0.356000	0.21956	TGT		0.408	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		C	111090368	A	C	111090368	3	2	519	1	0	0	0	0	1	0	0	0	16587	157	6	5	1271	5	TRPC5	23	111090368	Missense_Mutation	SNP	A	TCGA-CJ-4894-01A-01D-1373-10		111090368	44180192	70	27745											
C1orf86	199990	hgsc.bcm.edu	37	1	2121164	2121164	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:2121164T>G	ENST00000378546.4	-	4	551	c.527A>C	c.(526-528)gAa>gCa	p.E176A	C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378545.3_Missense_Mutation_p.E279A|C1orf86_ENST00000400919.3_5'UTR|AL590822.2_ENST00000597060.1_5'Flank	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	176				ED -> KN (in Ref. 2; AAQ04817). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGTCACGTCTTCTGTGCTTTC	0.697																																																0													69	55	59					1																	2121164		2203	4300	6503	SO:0001583	missense	199990			AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.527A>C	1.37:g.2121164T>G	ENSP00000367808:p.Glu176Ala		A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000378546.4	37	CCDS38.2	.	.	.	.	.	.	.	.	.	.	T	14.35	2.509474	0.44660	.	.	ENSG00000162585	ENST00000378546;ENST00000378545	T;T	0.54071	0.64;0.59	5.55	5.55	0.83447	.	0.935050	0.08854	N	0.884017	T	0.59689	0.2212	.	.	.	0.09310	N	1	D	0.54207	0.965	P	0.50970	0.655	T	0.52200	-0.8607	9	0.62326	D	0.03	-4.7049	10.2007	0.43082	0.1483:0.0:0.0:0.8517	.	176	Q6NZ36	CA086_HUMAN	A	176;279	ENSP00000367808:E176A;ENSP00000367807:E279A	ENSP00000367807:E279A	E	-	2	0	C1orf86	2111024	0.192000	0.23301	0.019000	0.16419	0.051000	0.14879	1.753000	0.38359	2.124000	0.65301	0.374000	0.22700	GAA		0.697	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1	NM_182533		G	2121164	T	G	2121164	3	3	520	1	0	0	0	0	1	0	0	0	2065	1783	62	5	259	5	C1orf86	1	2121164	Missense_Mutation	SNP	T	TCGA-CJ-4895-01A-01D-1373-10		2121164	247129457	1	27746											
ATP13A2	23400	hgsc.bcm.edu	37	1	17313021	17313021	+	Silent	SNP	G	G	A	rs115985012	byFrequency	TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:17313021G>A	ENST00000326735.8	-	28	3375	c.3342C>T	c.(3340-3342)acC>acT	p.T1114T	ATP13A2_ENST00000341676.5_Intron|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Silent_p.T1109T			Q9NQ11	AT132_HUMAN	ATPase type 13A2	1114					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCTTGAAGCCGGTGTCAGTGA	0.682													G|||	4	0.000798722	0.0	0.0	5008	,	,		14228	0.001		0.003	False		,,,				2504	0.0															0								G	,,	2,4404	4.2+/-10.8	0,2,2201	49	55	53		3327,,3342	-0.6	0	1	dbSNP_132	53	32,8566	22.8+/-68.1	0,32,4267	no	coding-synonymous,intron,coding-synonymous	ATP13A2	NM_001141973.1,NM_001141974.1,NM_022089.2	,,	0,34,6468	AA,AG,GG		0.3722,0.0454,0.2615	,,	1109/1176,,1114/1181	17313021	34,12970	2203	4299	6502	SO:0001819	synonymous_variant	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.3342C>T	1.37:g.17313021G>A			O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	CCDS175.1																																																																																				0.682	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		A	17313021	G	A	17313021	2	1	520	1	0	0	0	0	0	0	0	1	1124	1103	39	1		1	ATP13A2	1	17313021	Silent	SNP	G	TCGA-CJ-4895-01A-01D-1373-10	15191857	17313021	231937600	2	27747											
CATSPER4	378807	hgsc.bcm.edu	37	1	26527919	26527919	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:26527919C>T	ENST00000456354.2	+	9	1341	c.1274C>T	c.(1273-1275)aCg>aTg	p.T425M		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	425					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCGTCGACGAGCGGGTCG	0.572																																																0													101	91	94					1																	26527919		2203	4300	6503	SO:0001583	missense	378807			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1274C>T	1.37:g.26527919C>T	ENSP00000390423:p.Thr425Met		A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	c	12.59	1.983668	0.35036	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97404	-4.37;-4.36	5.09	-10.2	0.00374	.	2.836530	0.01633	N	0.023666	D	0.85894	0.5803	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.78666	-0.2115	10	0.38643	T	0.18	0.7693	1.734	0.02937	0.2151:0.2576:0.3684:0.1589	.	425	Q7RTX7	CTSR4_HUMAN	M	425	ENSP00000341006:T425M;ENSP00000390423:T425M	ENSP00000341006:T425M	T	+	2	0	CATSPER4	26400506	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.018000	0.01444	-1.132000	0.02907	-0.676000	0.03789	ACG		0.572	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		T	26527919	C	T	26527919	3	4	520	1	0	0	0	0	1	0	0	0	2692	536	19	1	1308	1	CATSPER4	1	26527919	Missense_Mutation	SNP	C	TCGA-CJ-4895-01A-01D-1373-10	9214898	26527919	222722702	3	27748											
ZMYM6	9204	hgsc.bcm.edu	37	1	35454280	35454280	+	Silent	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:35454280T>C	ENST00000357182.4	-	16	2630	c.2403A>G	c.(2401-2403)gtA>gtG	p.V801V	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	801					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				caaaaaaatctactggtttgt	0.294																																																0													24	21	21					1																	35454280		1285	2958	4243	SO:0001819	synonymous_variant	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2403A>G	1.37:g.35454280T>C			B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	CCDS387.2																																																																																				0.294	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		C	35454280	T	C	35454280	2	2	520	1	0	0	0	0	0	0	0	1	17709	1509	53	3		3	ZMYM6	1	35454280	Silent	SNP	T	TCGA-CJ-4895-01A-01D-1373-10	8926361	35454280	213796341	4	27749											
ZFYVE9	9372	hgsc.bcm.edu	37	1	52704839	52704839	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:52704839C>T	ENST00000371591.1	+	3	1881	c.1750C>T	c.(1750-1752)Cct>Tct	p.P584S	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.P584S|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.P584S	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	584					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACCCAAGCAACCTTCTAATCT	0.388																																																0													51	52	52					1																	52704839		2203	4300	6503	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1750C>T	1.37:g.52704839C>T	ENSP00000360647:p.Pro584Ser		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312482	0.60414	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.62639	0.46;0.01;0.68;0.68	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000009	T	0.67230	0.2871	L	0.27053	0.805	0.54753	D	0.999987	D;P;D	0.89917	1.0;0.727;1.0	D;B;D	0.80764	0.994;0.407;0.989	T	0.57946	-0.7723	10	0.09338	T	0.73	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	584;584;584	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	S	584	ENSP00000349737:P584S;ENSP00000355358:P584S;ENSP00000287727:P584S;ENSP00000360647:P584S	ENSP00000287727:P584S	P	+	1	0	ZFYVE9	52477427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.351000	0.66022	2.805000	0.96524	0.655000	0.94253	CCT		0.388	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		T	52704839	C	T	52704839	3	4	520	1	0	0	0	0	1	0	0	0	17676	507	18	2	1756	2	ZFYVE9	1	52704839	Missense_Mutation	SNP	C	TCGA-CJ-4895-01A-01D-1373-10	17250559	52704839	196545782	5	27750											
C1orf85	112770	hgsc.bcm.edu	37	1	156264685	156264685	+	Silent	SNP	T	T	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:156264685T>G	ENST00000362007.1	-	2	269	c.243A>C	c.(241-243)gtA>gtC	p.V81V	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	81					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGGCCACCATTACCACTGCCA	0.622																																																0													76	82	80					1																	156264685		2203	4300	6503	SO:0001819	synonymous_variant	112770			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"kidney lysosomal membrane protein"					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.243A>C	1.37:g.156264685T>G			A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Silent	SNP	ENST00000362007.1	37	CCDS1139.1																																																																																				0.622	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580		G	156264685	T	G	156264685	2	3	520	1	0	0	0	0	0	0	0	1	2064	1741	61	5		5	C1orf85	1	156264685	Silent	SNP	T	TCGA-CJ-4895-01A-01D-1373-10	103559846	156264685	92985936	6	27751											
DEGS1	8560	hgsc.bcm.edu	37	1	224377848	224377848	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:224377848C>T	ENST00000323699.4	+	2	818	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	DEGS1_ENST00000391877.3_Missense_Mutation_p.L218F	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	218					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		AGCATCTTTACTTGGCCTGGG	0.368																																																0													130	130	130					1																	224377848		2203	4300	6503	SO:0001583	missense	8560			AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"Fatty acid desaturases"	13709	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 1", "dihydroceramide desaturase 1"	615843	"degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.652C>T	1.37:g.224377848C>T	ENSP00000316476:p.Leu218Phe			Missense_Mutation	SNP	ENST00000323699.4	37	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513746	0.44763	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.19250	2.16;2.16;2.16	6.02	3.15	0.36227	Fatty acid desaturase, type 1 (1);	0.170456	0.53938	N	0.000055	T	0.17066	0.0410	L	0.37507	1.11	0.80722	D	1	B;B	0.23442	0.01;0.085	B;B	0.30029	0.11;0.066	T	0.05241	-1.0897	10	0.19147	T	0.46	.	11.4837	0.50342	0.0:0.8052:0.0:0.1948	.	218;197	O15121;E7EMA0	DEGS1_HUMAN;.	F	197;218;218	ENSP00000400545:L197F;ENSP00000316476:L218F;ENSP00000375749:L218F	ENSP00000316476:L218F	L	+	1	0	DEGS1	222444471	1.000000	0.71417	0.553000	0.28255	0.994000	0.84299	4.097000	0.57741	0.897000	0.36392	0.549000	0.68633	CTT		0.368	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			T	224377848	C	T	224377848	3	4	520	1	0	0	0	0	1	0	0	0	4424	565	20	2	658	2	DEGS1	1	224377848	Missense_Mutation	SNP	C	TCGA-CJ-4895-01A-01D-1373-10	68113163	224377848	24872773	7	27752											
KCNK1	3775	hgsc.bcm.edu	37	1	233802464	233802464	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:233802464T>G	ENST00000366621.3	+	2	647	c.479T>G	c.(478-480)gTc>gGc	p.V160G	KCNK1_ENST00000366620.1_Missense_Mutation_p.V44G|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	160					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	ACCGTGCACGTCACCCGCAGG	0.597																																																0													165	116	133					1																	233802464		2203	4300	6503	SO:0001583	missense	3775			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.479T>G	1.37:g.233802464T>G	ENSP00000355580:p.Val160Gly		Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909401	0.72868	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.97430	1.83;-4.38;-4.38	5.91	5.91	0.95273	.	0.262524	0.43260	D	0.000596	D	0.95695	0.8600	M	0.63843	1.955	0.80722	D	1	P	0.39282	0.666	B	0.35859	0.212	D	0.95836	0.8862	10	0.72032	D	0.01	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	160	O00180	KCNK1_HUMAN	G	160;44;78	ENSP00000355580:V160G;ENSP00000355579:V44G;ENSP00000409626:V78G	ENSP00000355579:V44G	V	+	2	0	KCNK1	231869087	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	4.895000	0.63214	2.254000	0.74563	0.533000	0.62120	GTC		0.597	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		G	233802464	T	G	233802464	3	3	520	1	0	0	0	0	1	0	0	0	8060	1667	58	5	485	5	KCNK1	1	233802464	Missense_Mutation	SNP	T	TCGA-CJ-4895-01A-01D-1373-10	9424616	233802464	15448157	8	27753											
ATAD2B	54454	hgsc.bcm.edu	37	2	24108653	24108653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr2:24108653G>A	ENST00000238789.5	-	5	962	c.619C>T	c.(619-621)Cag>Tag	p.Q207*		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	207				Q -> R (in Ref. 2; BAC04429). {ECO:0000305}.		nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGACGATTCTGTCGGATGTTA	0.358																																																0													105	99	101					2																	24108653		1894	4115	6009	SO:0001587	stop_gained	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.619C>T	2.37:g.24108653G>A	ENSP00000238789:p.Gln207*		B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193411	0.94960	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	.	.	.	4.94	0.645	0.17782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.1672	0.65486	0.0:0.0:0.4415:0.5585	.	.	.	.	X	207;45;207	.	ENSP00000238789:Q207X	Q	-	1	0	ATAD2B	23962157	1.000000	0.71417	0.999000	0.59377	0.724000	0.41520	1.712000	0.37940	0.201000	0.20466	-0.312000	0.09012	CAG		0.358	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		A	24108653	G	A	24108653	4	1	520	1	0	0	0	0	0	1	0	0	1072	1386	48	2	3853	2	ATAD2B	2	24108653	Nonsense_Mutation	SNP	G	TCGA-CJ-4895-01A-01D-1373-10		24108653	219090720	9	27754											
LYPD1	116372	hgsc.bcm.edu;ucsc.edu	37	2	133403819	133403819	+	Silent	SNP	C	C	T	rs201249597	byFrequency	TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr2:133403819C>T	ENST00000397463.2	-	3	497	c.225G>A	c.(223-225)gcG>gcA	p.A75A	GPR39_ENST00000329321.3_3'UTR|LYPD1_ENST00000345008.6_Silent_p.A23A|GPR39_ENST00000470071.1_3'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	75	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						TGAGACAGGCCGCTGATGATG	0.552													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18178	0.0		0.0	False		,,,				2504	0.0															0								C	,,	1,4255		0,1,2127	52	60	57		69,,225	-11.4	0	2		57	11,8461		0,11,4225	no	coding-synonymous,utr-3,coding-synonymous	GPR39,LYPD1	NM_001077427.2,NM_001508.2,NM_144586.5	,,	0,12,6352	TT,TC,CC		0.1298,0.0235,0.0943	,,	23/90,,75/142	133403819	12,12716	2128	4236	6364	SO:0001819	synonymous_variant	116372			AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.225G>A	2.37:g.133403819C>T			H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Silent	SNP	ENST00000397463.2	37	CCDS42759.1																																																																																				0.552	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1	NM_144586		T	133403819	C	T	133403819	2	4	520	1	0	0	0	0	0	0	0	1	9111	639	23	1		1	LYPD1	2	133403819	Silent	SNP	C	TCGA-CJ-4895-01A-01D-1373-10	109295166	133403819	109795554	10	27755											
LCT	3938	hgsc.bcm.edu;ucsc.edu	37	2	136566910	136566910	+	Silent	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr2:136566910G>A	ENST00000264162.2	-	8	3017	c.3007C>T	c.(3007-3009)Ctg>Ttg	p.L1003L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1003	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCATTGATCAGCCTGTTGTAA	0.517																																																0													62	67	65					2																	136566910		2203	4300	6503	SO:0001819	synonymous_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3007C>T	2.37:g.136566910G>A			Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																				0.517	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		A	136566910	G	A	136566910	2	1	520	1	0	0	0	0	0	0	0	1	8695	962	34	2		2	LCT	2	136566910	Silent	SNP	G	TCGA-CJ-4895-01A-01D-1373-10	3163091	136566910	106632463	11	27756											
PKP4	8502	hgsc.bcm.edu;ucsc.edu	37	2	159481890	159481890	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr2:159481890G>T	ENST00000389759.3	+	7	1216	c.1104G>T	c.(1102-1104)caG>caT	p.Q368H	PKP4_ENST00000389757.3_Missense_Mutation_p.Q368H	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	368					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACAGCAGCAGTATGACATTT	0.527										HNSCC(62;0.18)																																						0													81	69	73					2																	159481890		2203	4300	6503	SO:0001583	missense	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1104G>T	2.37:g.159481890G>T	ENSP00000374409:p.Gln368His		Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736650	0.30774	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.74106	-0.81;-0.81	5.67	3.85	0.44370	.	0.240074	0.44688	D	0.000434	T	0.46405	0.1391	N	0.02539	-0.55	0.32795	N	0.50067	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.002;0.002	B;B;B;B;B	0.12156	0.003;0.002;0.003;0.002;0.007	T	0.51387	-0.8712	10	0.36615	T	0.2	-4.4719	7.6527	0.28358	0.1908:0.0:0.6879:0.1213	.	220;324;368;368;220	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	H	220;368;368	ENSP00000374407:Q368H;ENSP00000374409:Q368H	ENSP00000374407:Q368H	Q	+	3	2	PKP4	159190136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.789000	0.26886	1.536000	0.49237	0.655000	0.94253	CAG		0.527	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			T	159481890	G	T	159481890	3	4	520	1	0	0	0	0	1	0	0	0	11989	1020	36	4	1126	4	PKP4	2	159481890	Missense_Mutation	SNP	G	TCGA-CJ-4895-01A-01D-1373-10	22914980	159481890	83717483	12	27757											
PASK	23178	hgsc.bcm.edu	37	2	242082263	242082263	+	Missense_Mutation	SNP	G	G	A	rs144572631	byFrequency	TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr2:242082263G>A	ENST00000405260.1	-	2	883	c.185C>T	c.(184-186)aCa>aTa	p.T62I	PASK_ENST00000403638.3_Missense_Mutation_p.T62I|PASK_ENST00000234040.4_Missense_Mutation_p.T62I|PASK_ENST00000544142.1_Nonsense_Mutation_p.Q11*|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Missense_Mutation_p.T62I	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	62					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)	p.T62I(2)		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)		AGAGAGCGCTGTCCTGCTCTG	0.562													G|||	2	0.000399361	0.0	0.0	5008	,	,		20364	0.0		0.002	False		,,,				2504	0.0															2	Substitution - Missense(2)	large_intestine(2)						G	ILE/THR	0,4406		0,0,2203	84	71	75		185	-4	0	2	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PASK	NM_015148.2	89	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	62/1324	242082263	2,13004	2203	4300	6503	SO:0001583	missense	23178			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.185C>T	2.37:g.242082263G>A	ENSP00000384016:p.Thr62Ile		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.256444|4.256444	0.80246|0.80246	0.0|0.0	2.33E-4|2.33E-4	ENSG00000115687|ENSG00000115687	ENST00000544142|ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638;ENST00000452907	.|T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.23;0.71	4.18|4.18	-3.97|-3.97	0.04094|0.04094	.|.	.|1.245370	.|0.05571	.|N	.|0.571164	.|T	.|0.44644	.|0.1303	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B	.|0.17852	.|0.024;0.017;0.008;0.024	.|B;B;B;B	.|0.14578	.|0.005;0.007;0.011;0.005	.|T	.|0.31081	.|-0.9956	.|10	0.87932|0.14656	D|T	0|0.56	.|.	11.1762|11.1762	0.48601|0.48601	0.2968:0.0:0.7032:0.0|0.2968:0.0:0.7032:0.0	.|.	.|62;62;62;62	.|B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.|.;.;.;PASK_HUMAN	X|I	11|62	.|ENSP00000234040:T62I;ENSP00000384016:T62I;ENSP00000351475:T62I;ENSP00000384438:T62I	ENSP00000441374:Q11X|ENSP00000234040:T62I	Q|T	-|-	1|2	0|0	PASK|PASK	241730936|241730936	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.172000|0.172000	0.22775|0.22775	-0.008000|-0.008000	0.12788|0.12788	-0.905000|-0.905000	0.03871|0.03871	-0.367000|-0.367000	0.07326|0.07326	CAG|ACA		0.562	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		A	242082263	G	A	242082263	3	1	520	1	0	0	0	0	1	0	0	0	11474	1377	48	2	3854	2	PASK	2	242082263	Missense_Mutation	SNP	G	TCGA-CJ-4895-01A-01D-1373-10	82600373	242082263	1117110	13	27758											
PSMD2	5708	hgsc.bcm.edu	37	3	184022099	184022099	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr3:184022099T>G	ENST00000310118.4	+	12	2017	c.1459T>G	c.(1459-1461)Ttg>Gtg	p.L487V	PSMD2_ENST00000439383.1_Missense_Mutation_p.L357V|PSMD2_ENST00000435761.1_Missense_Mutation_p.L328V|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	487					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 protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CAGGCTAGGCTTGGCTTATGC	0.488																																					Colon(24;313 636 6917 9932 15554)											0													184	171	176					3																	184022099		2203	4300	6503	SO:0001583	missense	5708			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.1459T>G	3.37:g.184022099T>G	ENSP00000310129:p.Leu487Val		B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234811	0.79800	.	.	ENSG00000175166	ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.32988	1.43;1.43;1.43	5.72	3.38	0.38709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	M	0.75264	2.295	0.58432	D	0.999994	P;D	0.57257	0.932;0.979	P;D	0.71414	0.725;0.973	T	0.46456	-0.9190	10	0.66056	D	0.02	-11.5568	4.5791	0.12250	0.0:0.4522:0.0:0.5478	.	328;487	E9PCS3;Q13200	.;PSMD2_HUMAN	V	487;161;479;328;357	ENSP00000310129:L487V;ENSP00000402618:L328V;ENSP00000416028:L357V	ENSP00000310129:L487V	L	+	1	2	PSMD2	185504793	0.983000	0.35010	1.000000	0.80357	0.964000	0.63967	1.419000	0.34793	0.996000	0.38943	0.416000	0.27883	TTG		0.488	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		G	184022099	T	G	184022099	3	3	520	1	0	0	0	0	1	0	0	0	12703	1606	56	5	1505	5	PSMD2	3	184022099	Missense_Mutation	SNP	T	TCGA-CJ-4895-01A-01D-1373-10		184022099	14000331	14	27759											
CLCN2	1181	hgsc.bcm.edu	37	3	184064478	184064479	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr3:184064478_184064479delCT	ENST00000265593.4	-	24	2783_2784	c.2612_2613delAG	c.(2611-2613)gagfs	p.E871fs	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Frame_Shift_Del_p.E854fs|CLCN2_ENST00000434054.2_Frame_Shift_Del_p.E827fs|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Frame_Shift_Del_p.E842fs	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	871					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGCATGCACCTCAGTGGTCTC	0.668																																																0																																										SO:0001589	frameshift_variant	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2612_2613delAG	3.37:g.184064478_184064479delCT	ENSP00000265593:p.Glu871fs		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Frame_Shift_Del	DEL	ENST00000265593.4	37	CCDS3263.1																																																																																				0.668	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			-	184064479	CT	-	184064478	7	5	520	1	0	1	0	1	0	0	0	0	3465	680	24	0	87	0	CLCN2	3	184064478	Frame_Shift_Del	DEL	CT	TCGA-CJ-4895-01A-01D-1373-10	42379	184064478	13957952	15	27760											
BCL6	604	hgsc.bcm.edu;ucsc.edu	37	3	187443369	187443369	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr3:187443369G>T	ENST00000406870.2	-	8	2123	c.1757C>A	c.(1756-1758)cCa>cAa	p.P586Q	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.P530Q|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.P586Q	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	586					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P586Q(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CAGGTTGGCTGGCCGGTTGAA	0.488			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																		Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	1	Substitution - Missense(1)	large_intestine(1)											126	134	132					3																	187443369		2203	4300	6503	SO:0001583	missense	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1757C>A	3.37:g.187443369G>T	ENSP00000384371:p.Pro586Gln		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743376	0.89663	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.35421	1.31;1.31;2.46	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	N	0.16478	0.41	0.80722	D	1	D;P	0.89917	1.0;0.454	D;B	0.85130	0.997;0.098	T	0.52434	-0.8576	10	0.72032	D	0.01	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	530;586	B8PSA7;P41182	.;BCL6_HUMAN	Q	586;586;530	ENSP00000384371:P586Q;ENSP00000232014:P586Q;ENSP00000413122:P530Q	ENSP00000232014:P586Q	P	-	2	0	BCL6	188926063	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.062000	0.89475	2.679000	0.91253	0.655000	0.94253	CCA		0.488	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		T	187443369	G	T	187443369	3	4	520	1	0	0	0	0	1	0	0	0	1376	1348	47	4	375	4	BCL6	3	187443369	Missense_Mutation	SNP	G	TCGA-CJ-4895-01A-01D-1373-10	3378891	187443369	10579061	16	27761											
NRN1	51299	hgsc.bcm.edu	37	6	6002641	6002641	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr6:6002641T>C	ENST00000244766.2	-	2	362	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	49				SM -> TW (in Ref. 3; AAP97232). {ECO:0000305}.	nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TAGTTGGCCATGCTGTCGCCC	0.617																																																0													158	133	142					6																	6002641		2203	4300	6503	SO:0001583	missense	51299			AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.145A>G	6.37:g.6002641T>C	ENSP00000244766:p.Met49Val		B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	37	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341319	0.41498	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.42245	1.32	0.46203	D	0.998925	B	0.02656	0.0	B	0.04013	0.001	T	0.38929	-0.9638	9	0.40728	T	0.16	-9.5493	11.209	0.48786	0.0:0.0:0.0:1.0	.	49	Q9NPD7	NRN1_HUMAN	V	49	.	ENSP00000244766:M49V	M	-	1	0	NRN1	5947640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.965000	0.63708	1.773000	0.52216	0.379000	0.24179	ATG		0.617	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			C	6002641	T	C	6002641	3	2	520	1	0	0	0	0	1	0	0	0	10660	1464	51	3	291	3	NRN1	6	6002641	Missense_Mutation	SNP	T	TCGA-CJ-4895-01A-01D-1373-10		6002641	165112426	17	27762											
ATXN1	6310	hgsc.bcm.edu	37	6	16328275	16328275	+	Silent	SNP	C	C	T	rs146853248	byFrequency	TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr6:16328275C>T	ENST00000244769.4	-	8	1203	c.267G>A	c.(265-267)ccG>ccA	p.P89P	ATXN1_ENST00000436367.1_Silent_p.P89P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	89					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.P89P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GAGCGCTGGGCGGGGAGTAGT	0.677																																																1	Substitution - coding silent(1)	central_nervous_system(1)											71	77	75					6																	16328275		2203	4299	6502	SO:0001819	synonymous_variant	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.267G>A	6.37:g.16328275C>T			Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	CCDS34342.1																																																																																				0.677	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		T	16328275	C	T	16328275	2	4	520	1	0	0	0	0	0	0	0	1	1209	755	27	1		1	ATXN1	6	16328275	Silent	SNP	C	TCGA-CJ-4895-01A-01D-1373-10	10325634	16328275	154786792	18	27763											
SYNE1	23345	hgsc.bcm.edu	37	6	152461141	152461141	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr6:152461141G>T	ENST00000367255.5	-	140	26003	c.25402C>A	c.(25402-25404)Cgt>Agt	p.R8468S	SYNE1_ENST00000354674.4_Missense_Mutation_p.R646S|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623S|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080S|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTTCCAGACGCTGGAGCTGT	0.557										HNSCC(10;0.0054)																																						0													121	99	106					6																	152461141		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25402C>A	6.37:g.152461141G>T	ENSP00000356224:p.Arg8468Ser		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	1.431	-0.570317	0.03910	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.92	5.04	0.67666	.	0.227351	0.31156	N	0.008147	T	0.22166	0.0534	L	0.46157	1.445	0.09310	N	1	P;P;B;P;B	0.34815	0.47;0.47;0.415;0.47;0.008	B;B;B;B;B	0.42112	0.376;0.376;0.259;0.376;0.03	T	0.15983	-1.0418	10	0.19147	T	0.46	.	10.5768	0.45231	0.0683:0.0:0.7974:0.1342	.	8468;8468;8420;8420;670	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	S	8468;623;1114;8420;8468;8420;8080;2992;653;648;1413;646	ENSP00000356224:R8468S;ENSP00000441052:R623S;ENSP00000356226:R1114S;ENSP00000396024:R8420S;ENSP00000265368:R8468S;ENSP00000390975:R8420S;ENSP00000341887:R8080S;ENSP00000349276:R2992S;ENSP00000356220:R1413S;ENSP00000346701:R646S	ENSP00000265368:R8468S	R	-	1	0	SYNE1	152502834	0.000000	0.05858	0.037000	0.18230	0.206000	0.24218	0.727000	0.25999	1.465000	0.48006	0.561000	0.74099	CGT		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		T	152461141	G	T	152461141	3	4	520	1	0	0	0	0	1	0	0	0	15450	1087	38	4	1019	4	SYNE1	6	152461141	Missense_Mutation	SNP	G	TCGA-CJ-4895-01A-01D-1373-10	136132866	152461141	18653926	19	27764											
RHEB	6009	hgsc.bcm.edu;ucsc.edu	37	7	151188050	151188050	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr7:151188050A>T	ENST00000262187.5	-	2	515	c.103T>A	c.(103-105)Tac>Aac	p.Y35N	RHEB_ENST00000496004.1_5'UTR|RHEB_ENST00000472642.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	35					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.Y35N(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GTTGGATCGTAGGAGTCCACA	0.358																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)											1	Substitution - Missense(1)	kidney(1)											103	100	101					7																	151188050		2203	4300	6503	SO:0001583	missense	6009			D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"Ras homolog enriched in brain 2"	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.103T>A	7.37:g.151188050A>T	ENSP00000262187:p.Tyr35Asn		B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	37	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708820	0.89018	.	.	ENSG00000106615	ENST00000262187	T	0.81247	-1.47	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93659	0.6980	10	0.87932	D	0	.	13.3975	0.60863	1.0:0.0:0.0:0.0	.	35	Q15382	RHEB_HUMAN	N	35	ENSP00000262187:Y35N	ENSP00000262187:Y35N	Y	-	1	0	RHEB	150818983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.143000	0.89621	2.051000	0.60960	0.533000	0.62120	TAC		0.358	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2	NM_005614		T	151188050	A	T	151188050	3	4	520	1	0	0	0	0	1	0	0	0	13334	420	15	5	479	5	RHEB	7	151188050	Missense_Mutation	SNP	A	TCGA-CJ-4895-01A-01D-1373-10		151188050	7950613	20	27765											
PRKAG2	51422	hgsc.bcm.edu	37	7	151478258	151478258	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr7:151478258A>G	ENST00000287878.4	-	3	950	c.446T>C	c.(445-447)tTt>tCt	p.F149S	PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Missense_Mutation_p.F105S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	149					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	GCGGGAGAAAAACCTGATGCC	0.587																																																0													92	103	99					7																	151478258		2203	4300	6503	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.446T>C	7.37:g.151478258A>G	ENSP00000287878:p.Phe149Ser		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.823246	0.50739	.	.	ENSG00000106617	ENST00000287878;ENST00000392801	D;D	0.88818	-2.02;-2.43	5.1	5.1	0.69264	.	0.127944	0.52532	D	0.000070	D	0.85733	0.5765	L	0.27053	0.805	0.80722	D	1	D;B	0.53885	0.963;0.052	P;B	0.50754	0.649;0.038	D	0.83367	0.0005	10	0.20046	T	0.44	.	14.0831	0.64937	1.0:0.0:0.0:0.0	.	149;149	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	S	149;105	ENSP00000287878:F149S;ENSP00000376549:F105S	ENSP00000287878:F149S	F	-	2	0	PRKAG2	151109191	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.161000	0.89655	1.916000	0.55485	0.460000	0.39030	TTT		0.587	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		G	151478258	A	G	151478258	3	3	520	1	0	0	0	0	1	0	0	0	12506	14	1	3	1319	3	PRKAG2	7	151478258	Missense_Mutation	SNP	A	TCGA-CJ-4895-01A-01D-1373-10	290208	151478258	7660405	21	27766											
MTUS1	57509	hgsc.bcm.edu;ucsc.edu	37	8	17612773	17612773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr8:17612773G>A	ENST00000262102.6	-	2	768	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	MTUS1_ENST00000381869.3_Nonsense_Mutation_p.Q182*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q182*|MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q182*	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	182					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGGAAGGACTGACTCTTTCCG	0.438																																																0													138	123	127					8																	17612773		1949	4134	6083	SO:0001587	stop_gained	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.544C>T	8.37:g.17612773G>A	ENSP00000262102:p.Gln182*		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Nonsense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	37	6.309412	0.97462	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	.	.	.	4.24	4.24	0.50183	.	0.367714	0.22169	N	0.063676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0702	12.4333	0.55584	0.0:0.0:1.0:0.0	.	.	.	.	X	182	.	.	Q	-	1	0	MTUS1	17657053	0.014000	0.17966	0.084000	0.20598	0.006000	0.05464	1.985000	0.40668	2.637000	0.89404	0.563000	0.77884	CAG		0.438	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		A	17612773	G	A	17612773	4	1	520	1	0	0	0	0	0	1	0	0	9967	1299	45	2	3643	2	MTUS1	8	17612773	Nonsense_Mutation	SNP	G	TCGA-CJ-4895-01A-01D-1373-10		17612773	128751249	22	27767											
PSD3	23362	hgsc.bcm.edu	37	8	18725300	18725300	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr8:18725300A>T	ENST00000327040.8	-	4	1620	c.1518T>A	c.(1516-1518)agT>agA	p.S506R	PSD3_ENST00000440756.2_Missense_Mutation_p.S506R|PSD3_ENST00000523619.1_Missense_Mutation_p.S441R	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	506					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGCAGACACACTCAGGATAT	0.522																																																0													199	199	199					8																	18725300		2135	4242	6377	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1518T>A	8.37:g.18725300A>T	ENSP00000324127:p.Ser506Arg		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894248	0.33442	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.13420	2.61;2.61;2.59	5.28	-9.58	0.00559	.	0.781000	0.11919	N	0.516844	T	0.09113	0.0225	L	0.32530	0.975	0.19775	N	0.999954	B	0.29612	0.251	B	0.27076	0.076	T	0.06972	-1.0797	10	0.49607	T	0.09	.	15.5841	0.76468	0.1793:0.0975:0.7231:0.0	.	506	E9KL50	.	R	506;506;441	ENSP00000324127:S506R;ENSP00000401704:S506R;ENSP00000430640:S441R	ENSP00000324127:S506R	S	-	3	2	PSD3	18769580	0.008000	0.16893	0.008000	0.14137	0.610000	0.37248	-0.988000	0.03739	-2.087000	0.00862	0.477000	0.44152	AGT		0.522	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		T	18725300	A	T	18725300	3	4	520	1	0	0	0	0	1	0	0	0	12653	156	6	5	1713	5	PSD3	8	18725300	Missense_Mutation	SNP	A	TCGA-CJ-4895-01A-01D-1373-10	1112527	18725300	127638722	23	27768											
GTF2E2	2961	hgsc.bcm.edu	37	8	30436496	30436496	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr8:30436496T>C	ENST00000355904.4	-	8	1100	c.818A>G	c.(817-819)cAt>cGt	p.H273R		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	273					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		GTGTTCGTTATGAGTCTTAAA	0.418																																																0													179	166	171					8																	30436496		2203	4300	6503	SO:0001583	missense	2961			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"General transcription factors"	4651	protein-coding gene	gene with protein product		189964	"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.818A>G	8.37:g.30436496T>C	ENSP00000348168:p.His273Arg		D3DSV2|Q9H2B9	Missense_Mutation	SNP	ENST00000355904.4	37	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093983	0.76870	.	.	ENSG00000197265	ENST00000355904	T	0.30448	1.53	5.92	4.72	0.59763	.	0.040950	0.85682	N	0.000000	T	0.41419	0.1158	M	0.68317	2.08	0.80722	D	1	P	0.51057	0.941	P	0.51453	0.67	T	0.29027	-1.0025	10	0.48119	T	0.1	-16.9413	10.823	0.46617	0.1407:0.0:0.0:0.8593	.	273	P29084	T2EB_HUMAN	R	273	ENSP00000348168:H273R	ENSP00000348168:H273R	H	-	2	0	GTF2E2	30556038	1.000000	0.71417	0.931000	0.37212	0.988000	0.76386	5.888000	0.69758	2.266000	0.75297	0.533000	0.62120	CAT		0.418	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		C	30436496	T	C	30436496	3	2	520	1	0	0	0	0	1	0	0	0	6859	1464	51	3	61	3	GTF2E2	8	30436496	Missense_Mutation	SNP	T	TCGA-CJ-4895-01A-01D-1373-10	11711196	30436496	115927526	24	27769											
TMEM64	169200	hgsc.bcm.edu	37	8	91657421	91657421	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr8:91657421A>G	ENST00000458549.2	-	1	890	c.713T>C	c.(712-714)gTg>gCg	p.V238A	TMEM64_ENST00000418210.2_Missense_Mutation_p.V238A|RP11-68L18.1_ENST00000501194.2_RNA|TMEM64_ENST00000519519.1_Intron|RP11-68L18.1_ENST00000519233.1_RNA	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	238					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TCCTCCCTCCACTACGCGAAT	0.617											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													58	59	59					8																	91657421		2203	4300	6503	SO:0001583	missense	169200			AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.713T>C	8.37:g.91657421A>G	ENSP00000414786:p.Val238Ala	1284	B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	ENST00000458549.2	37	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	A	31	5.076503	0.94000	.	.	ENSG00000180694	ENST00000458549;ENST00000418210;ENST00000422900	.	.	.	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	M	0.80847	2.515	0.80722	D	1	D;D	0.71674	0.994;0.998	P;D	0.66847	0.888;0.947	T	0.80489	-0.1360	9	0.54805	T	0.06	.	13.2705	0.60157	1.0:0.0:0.0:0.0	.	238;238	F5GXM4;Q6YI46	.;TMM64_HUMAN	A	238;238;107	.	ENSP00000411951:V238A	V	-	2	0	TMEM64	91726597	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.686000	0.91250	1.705000	0.51264	0.454000	0.30748	GTG		0.617	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		G	91657421	A	G	91657421	3	3	520	1	0	0	0	0	1	0	0	0	16198	159	6	3	441	3	TMEM64	8	91657421	Missense_Mutation	SNP	A	TCGA-CJ-4895-01A-01D-1373-10	61220925	91657421	54706601	25	27770											
GRIN1	2902	hgsc.bcm.edu	37	9	140057373	140057373	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr9:140057373G>A	ENST00000371561.3	+	15	3186	c.2089G>A	c.(2089-2091)Gtg>Atg	p.V697M	GRIN1_ENST00000350902.5_Missense_Mutation_p.V697M|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.V718M|GRIN1_ENST00000315048.3_Missense_Mutation_p.V697M|GRIN1_ENST00000371559.4_Missense_Mutation_p.V697M|GRIN1_ENST00000371555.4_Missense_Mutation_p.V718M|GRIN1_ENST00000371546.4_Missense_Mutation_p.V718M|GRIN1_ENST00000371550.4_Missense_Mutation_p.V697M|GRIN1_ENST00000371553.3_Missense_Mutation_p.V718M	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	697					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGGCGCCAGGTGGAGCTGAG	0.622																																					NSCLC(113;717 1653 2089 20474 37618)											0													31	30	31					9																	140057373		2201	4297	6498	SO:0001583	missense	2902				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.2089G>A	9.37:g.140057373G>A	ENSP00000360616:p.Val697Met		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.525437	0.85600	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	4.61	4.61	0.57282	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	L	0.40543	1.245	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.901;0.999;0.999;0.999;0.995	D;B;D;D;D;D	0.85130	0.997;0.321;0.995;0.995;0.997;0.914	T	0.69120	-0.5229	10	0.87932	D	0	.	16.015	0.80430	0.0:0.0:1.0:0.0	.	718;718;697;697;697;697	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	M	697;697;697;697;718;718;718;697;718	ENSP00000360616:V697M;ENSP00000316696:V697M;ENSP00000316915:V697M;ENSP00000360605:V697M;ENSP00000360601:V718M;ENSP00000360610:V718M;ENSP00000360608:V718M;ENSP00000360614:V697M;ENSP00000360615:V718M	ENSP00000316696:V697M	V	+	1	0	GRIN1	139177194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.059000	0.93902	2.127000	0.65507	0.450000	0.29827	GTG		0.622	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		A	140057373	G	A	140057373	3	1	520	1	0	0	0	0	1	0	0	0	6780	1261	44	2	2214	2	GRIN1	9	140057373	Missense_Mutation	SNP	G	TCGA-CJ-4895-01A-01D-1373-10		140057373	1156058	26	27771											
FBXO18	84893	hgsc.bcm.edu;ucsc.edu	37	10	5963284	5963284	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr10:5963284G>A	ENST00000362091.4	+	14	2279	c.2164G>A	c.(2164-2166)Gtc>Atc	p.V722I	FBXO18_ENST00000379999.5_Missense_Mutation_p.V773I|FBXO18_ENST00000397269.3_Missense_Mutation_p.V209I	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	722					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TTGCAAGAGAGTCAGGAAAAA	0.413																																																0													137	140	139					10																	5963284		2203	4300	6503	SO:0001583	missense	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2164G>A	10.37:g.5963284G>A	ENSP00000355415:p.Val722Ile		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621609	0.66787	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	D;D;D	0.81659	-1.52;-1.52;-1.52	6.03	6.03	0.97812	.	0.058330	0.64402	D	0.000002	T	0.76069	0.3936	L	0.42744	1.35	0.49483	D	0.999793	P;P;B	0.42456	0.778;0.78;0.185	B;B;B	0.42738	0.396;0.213;0.093	T	0.73244	-0.4044	10	0.29301	T	0.29	-18.613	13.3622	0.60663	0.0751:0.0:0.9249:0.0	.	773;722;648	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	I	209;722;773	ENSP00000380439:V209I;ENSP00000355415:V722I;ENSP00000369335:V773I	ENSP00000355415:V722I	V	+	1	0	FBXO18	6003290	1.000000	0.71417	0.993000	0.49108	0.944000	0.59088	5.301000	0.65727	2.880000	0.98712	0.650000	0.86243	GTC		0.413	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		A	5963284	G	A	5963284	3	1	520	1	0	0	0	0	1	0	0	0	5733	1029	36	2	2380	2	FBXO18	10	5963284	Missense_Mutation	SNP	G	TCGA-CJ-4895-01A-01D-1373-10		5963284	129571463	27	27772											
FAM188A	80013	hgsc.bcm.edu	37	10	15902225	15902225	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr10:15902225A>G	ENST00000277632.3	-	1	294	c.74T>C	c.(73-75)aTt>aCt	p.I25T	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	25					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GCGGCAGAAAATGGTGTCCGA	0.622																																					Pancreas(159;946 1953 2111 4475 22008)											0													39	39	39					10																	15902225		2203	4300	6503	SO:0001583	missense	80013			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"caspase recruitment domain containing pro-apoptotic protein", "CARD-containing protein"	611649	"chromosome 10 open reading frame 97"	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.74T>C	10.37:g.15902225A>G	ENSP00000277632:p.Ile25Thr		Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432756	0.62844	.	.	ENSG00000148481	ENST00000277632	T	0.33438	1.41	5.34	4.18	0.49190	.	0.235336	0.45361	D	0.000369	T	0.29491	0.0735	L	0.58810	1.83	0.80722	D	1	B	0.27286	0.174	B	0.28553	0.091	T	0.07083	-1.0791	10	0.52906	T	0.07	-9.007	8.4282	0.32742	0.8262:0.0:0.0:0.1738	.	25	Q9H8M7	F188A_HUMAN	T	25	ENSP00000277632:I25T	ENSP00000277632:I25T	I	-	2	0	FAM188A	15942231	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	4.448000	0.60027	0.818000	0.34468	0.533000	0.62120	ATT		0.622	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		G	15902225	A	G	15902225	3	3	520	1	0	0	0	0	1	0	0	0	5516	101	4	3	1323	3	FAM188A	10	15902225	Missense_Mutation	SNP	A	TCGA-CJ-4895-01A-01D-1373-10	9938941	15902225	119632522	28	27773											
ZNF33A	7581	hgsc.bcm.edu	37	10	38343536	38343539	+	Frame_Shift_Del	DEL	TATT	TATT	-			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	TATT	TATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr10:38343536_38343539delTATT	ENST00000458705.2	+	5	639_642	c.481_484delTATT	c.(481-486)tatttafs	p.YL161fs	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Frame_Shift_Del_p.YL162fs|ZNF33A_ENST00000432900.2_Frame_Shift_Del_p.YL168fs|ZNF33A_ENST00000307441.9_Frame_Shift_Del_p.YL161fs			Q06730	ZN33A_HUMAN	zinc finger protein 33A	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TAAGATAAACTATTTAGGAAAAAA	0.314																																																0																																										SO:0001589	frameshift_variant	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.481_484delTATT	10.37:g.38343536_38343539delTATT	ENSP00000387713:p.Tyr161fs		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Frame_Shift_Del	DEL	ENST00000458705.2	37	CCDS31182.1																																																																																				0.314	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		-	38343539	TATT	-	38343536	7	5	520	1	0	1	0	1	0	0	0	0	17859	1522	53	0	498	0	ZNF33A	10	38343536	Frame_Shift_Del	DEL	TATT	TCGA-CJ-4895-01A-01D-1373-10	22441311	38343536	97191211	29	27774											
USP54	159195	hgsc.bcm.edu;ucsc.edu	37	10	75258858	75258858	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr10:75258858G>T	ENST00000339859.4	-	23	4684	c.4584C>A	c.(4582-4584)aaC>aaA	p.N1528K	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.N569K|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.N1528K|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.N1378K|USP54_ENST00000422491.2_Missense_Mutation_p.N663K|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000422977.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1528					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGCTCTGGTAGTTCAAAGTCC	0.537																																					Colon(195;880 2046 8854 25025 38456)											0													207	197	200					10																	75258858		2203	4300	6503	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.4584C>A	10.37:g.75258858G>T	ENSP00000345216:p.Asn1528Lys		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857273	0.51376	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.23147	1.96;1.96;1.95;1.92;1.92	4.98	4.07	0.47477	.	.	.	.	.	T	0.31888	0.0811	L	0.51422	1.61	0.80722	D	1	P;B	0.40731	0.728;0.319	B;B	0.43623	0.425;0.081	T	0.09796	-1.0658	9	0.87932	D	0	-7.2671	16.5846	0.84724	0.0699:0.0:0.9301:0.0	.	663;1528	E7EW90;Q70EL1	.;UBP54_HUMAN	K	1528;1528;1378;569;663	ENSP00000345216:N1528K;ENSP00000386080:N1528K;ENSP00000408714:N1378K;ENSP00000378290:N569K;ENSP00000407368:N663K	ENSP00000345216:N1528K	N	-	3	2	USP54	74928864	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.207000	0.42788	0.708000	0.31955	-1.228000	0.01579	AAC		0.537	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		T	75258858	G	T	75258858	3	4	520	1	0	0	0	0	1	0	0	0	17090	1020	36	4	474	4	USP54	10	75258858	Missense_Mutation	SNP	G	TCGA-CJ-4895-01A-01D-1373-10	36915322	75258858	60275889	30	27775											
CARS	833	hgsc.bcm.edu	37	11	3028150	3028150	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr11:3028150T>G	ENST00000397111.5	-	18	2104	c.1859A>C	c.(1858-1860)aAc>aCc	p.N620T	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000401769.3_Missense_Mutation_p.N633T|CARS_ENST00000397114.3_Missense_Mutation_p.N610T|CARS_ENST00000278224.9_Missense_Mutation_p.N620T|CARS_ENST00000380525.4_Missense_Mutation_p.N703T			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	620					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GGGCAGGATGTTGTCCCGCAG	0.577			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													171	163	166					11																	3028150		2202	4298	6500	SO:0001583	missense	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1859A>C	11.37:g.3028150T>G	ENSP00000380300:p.Asn620Thr		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484612	0.26598	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.42	4.42	0.53409	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.226355	0.44097	D	0.000482	T	0.27313	0.0670	N	0.16790	0.44	0.22050	N	0.999397	B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.002;0.001;0.001	B;B;B;B;B;B	0.10450	0.002;0.002;0.002;0.005;0.004;0.002	T	0.14282	-1.0478	10	0.33940	T	0.23	-18.828	12.3687	0.55242	0.0:0.0:0.0:1.0	.	633;703;620;620;703;610	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	T	703;620;620;610;633	ENSP00000369897:N703T;ENSP00000380300:N620T;ENSP00000278224:N620T;ENSP00000380303:N610T;ENSP00000384069:N633T	ENSP00000278224:N620T	N	-	2	0	CARS	2984726	1.000000	0.71417	0.041000	0.18516	0.285000	0.27093	6.807000	0.75201	1.848000	0.53677	0.379000	0.24179	AAC		0.577	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		G	3028150	T	G	3028150	3	3	520	1	0	0	0	0	1	0	0	0	2659	1725	60	5	415	5	CARS	11	3028150	Missense_Mutation	SNP	T	TCGA-CJ-4895-01A-01D-1373-10		3028150	131978366	31	27776											
KDM2A	22992	hgsc.bcm.edu	37	11	67017709	67017709	+	Silent	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr11:67017709G>A	ENST00000529006.2	+	17	2654	c.2208G>A	c.(2206-2208)gtG>gtA	p.V736V	KDM2A_ENST00000530342.1_Silent_p.V297V|KDM2A_ENST00000308783.5_Silent_p.V194V|KDM2A_ENST00000398645.2_Silent_p.V736V|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	736					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GGGGTATGGTGACTCGGTCAT	0.677																																																0													27	31	30					11																	67017709		1968	4142	6110	SO:0001819	synonymous_variant	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2208G>A	11.37:g.67017709G>A			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	CCDS44657.1																																																																																				0.677	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		A	67017709	G	A	67017709	2	1	520	1	0	0	0	0	0	0	0	1	8126	1277	45	2		2	KDM2A	11	67017709	Silent	SNP	G	TCGA-CJ-4895-01A-01D-1373-10	63989559	67017709	67988807	32	27777											
ADAMTS8	11095	hgsc.bcm.edu	37	11	130278689	130278689	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr11:130278689T>C	ENST00000257359.6	-	7	2603	c.1897A>G	c.(1897-1899)Agc>Ggc	p.S633G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	633	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TTGAACTCGCTCCTCCCCCGG	0.637																																																0													89	92	91					11																	130278689		1911	4123	6034	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1897A>G	11.37:g.130278689T>C	ENSP00000257359:p.Ser633Gly		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	T	7.785	0.710312	0.15239	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.03663	3.85	5.76	4.6	0.57074	.	0.072732	0.85682	D	0.000000	T	0.03053	0.0090	L	0.28608	0.87	0.37432	D	0.91408	B;B	0.15141	0.012;0.001	B;B	0.15484	0.013;0.003	T	0.22208	-1.0223	10	0.02654	T	1	.	12.8609	0.57913	0.0:0.0:0.1361:0.8638	.	633;114	Q9UP79;B3KVX9	ATS8_HUMAN;.	G	31;633;662	ENSP00000257359:S633G	ENSP00000257359:S633G	S	-	1	0	ADAMTS8	129783899	0.994000	0.37717	0.923000	0.36655	0.985000	0.73830	2.087000	0.41653	0.964000	0.38108	0.533000	0.62120	AGC		0.637	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		C	130278689	T	C	130278689	3	2	520	1	0	0	0	0	1	0	0	0	272	1551	54	3	784	3	ADAMTS8	11	130278689	Missense_Mutation	SNP	T	TCGA-CJ-4895-01A-01D-1373-10	63260980	130278689	4727827	33	27778											
GYS2	2998	hgsc.bcm.edu;ucsc.edu	37	12	21713365	21713365	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr12:21713365A>T	ENST00000261195.2	-	8	1378	c.1124T>A	c.(1123-1125)tTc>tAc	p.F375Y		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	375					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCCACGTTGAAATTATTTGT	0.373																																					Colon(149;9 1820 3690 10544 50424)											0													202	183	189					12																	21713365		2203	4300	6503	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1124T>A	12.37:g.21713365A>T	ENSP00000261195:p.Phe375Tyr		A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159255	0.78226	.	.	ENSG00000111713	ENST00000261195	T	0.68624	-0.34	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	L	0.56280	1.765	0.80722	D	1	P	0.41366	0.747	P	0.50825	0.651	T	0.68934	-0.5278	10	0.30854	T	0.27	-21.491	14.628	0.68635	1.0:0.0:0.0:0.0	.	375	P54840	GYS2_HUMAN	Y	375	ENSP00000261195:F375Y	ENSP00000261195:F375Y	F	-	2	0	GYS2	21604632	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.123000	0.94387	2.046000	0.60703	0.460000	0.39030	TTC		0.373	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		T	21713365	A	T	21713365	3	4	520	1	0	0	0	0	1	0	0	0	6915	246	9	5	1023	5	GYS2	12	21713365	Missense_Mutation	SNP	A	TCGA-CJ-4895-01A-01D-1373-10		21713365	112138530	34	27779											
LRRK2	120892	hgsc.bcm.edu;ucsc.edu	37	12	40692241	40692241	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr12:40692241T>C	ENST00000298910.7	+	24	3351	c.3293T>C	c.(3292-3294)gTa>gCa	p.V1098A	LRRK2_ENST00000343742.2_Missense_Mutation_p.V1098A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1098					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGTCTTTTGTACCTGAGAAC	0.403																																																0													129	124	126					12																	40692241		2203	4300	6503	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3293T>C	12.37:g.40692241T>C	ENSP00000298910:p.Val1098Ala		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114466	0.37339	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.25912	2.13;1.77	5.85	5.85	0.93711	.	0.792750	0.12050	N	0.504199	T	0.32071	0.0817	M	0.70108	2.13	0.09310	N	0.999999	B;B	0.20671	0.039;0.047	B;B	0.19148	0.024;0.013	T	0.17868	-1.0355	10	0.54805	T	0.06	.	12.0608	0.53561	0.0:0.0686:0.0:0.9314	.	1098;1098	E9PC85;Q5S007	.;LRRK2_HUMAN	A	1098	ENSP00000341930:V1098A;ENSP00000298910:V1098A	ENSP00000298910:V1098A	V	+	2	0	LRRK2	38978508	0.337000	0.24766	0.264000	0.24511	0.868000	0.49771	1.533000	0.36040	2.229000	0.72834	0.533000	0.62120	GTA		0.403	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		C	40692241	T	C	40692241	3	2	520	1	0	0	0	0	1	0	0	0	9035	1638	57	3	3387	3	LRRK2	12	40692241	Missense_Mutation	SNP	T	TCGA-CJ-4895-01A-01D-1373-10	18978876	40692241	93159654	35	27780											
FAM179B	23116	hgsc.bcm.edu;ucsc.edu	37	14	45433129	45433129	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr14:45433129C>A	ENST00000361577.3	+	1	1719	c.1505C>A	c.(1504-1506)cCt>cAt	p.P502H	KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.P502H|FAM179B_ENST00000361462.2_Missense_Mutation_p.P502H|KLHL28_ENST00000553817.1_5'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	502										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTGACCTATCCTAGTGAGGAT	0.483																																																0													121	106	111					14																	45433129		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1505C>A	14.37:g.45433129C>A	ENSP00000355045:p.Pro502His		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352408	0.61293	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.52295	0.67;0.67;0.67	4.29	4.29	0.51040	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.68851	0.3046	M	0.76170	2.325	0.53688	D	0.999979	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.73965	-0.3816	10	0.72032	D	0.01	-7.7992	16.8884	0.86081	0.0:1.0:0.0:0.0	.	502;502;502;502	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	H	502	ENSP00000355045:P502H;ENSP00000354917:P502H;ENSP00000371668:P502H	ENSP00000354917:P502H	P	+	2	0	FAM179B	44502879	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.322000	0.79097	2.379000	0.81126	0.561000	0.74099	CCT		0.483	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		A	45433129	C	A	45433129	3	1	520	1	0	0	0	0	1	0	0	0	5508	681	24	4	1507	4	FAM179B	14	45433129	Missense_Mutation	SNP	C	TCGA-CJ-4895-01A-01D-1373-10		45433129	61916411	36	27781											
LRRC50	123872	hgsc.bcm.edu;ucsc.edu	37	16	84211399	84211399	+	Silent	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr16:84211399T>C	ENST00000378553.5	+	12	2254	c.2130T>C	c.(2128-2130)gcT>gcC	p.A710A	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	710					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCAGCCAAGCTCTGCCCACGT	0.537																																																0													122	111	115					16																	84211399		2200	4300	6500	SO:0001819	synonymous_variant	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.2130T>C	16.37:g.84211399T>C			B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	CCDS10943.2																																																																																				0.537	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		C	84211399	T	C	84211399	2	2	520	1	0	0	0	0	0	0	0	1	9011	1538	54	3		3	LRRC50	16	84211399	Silent	SNP	T	TCGA-CJ-4895-01A-01D-1373-10		84211399	6143354	37	27782											
C18orf19	125228	hgsc.bcm.edu	37	18	13681611	13681611	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr18:13681611C>A	ENST00000322247.3	-	3	853	c.466G>T	c.(466-468)Gcc>Tcc	p.A156S	FAM210A_ENST00000402563.1_Missense_Mutation_p.A156S|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	156	DUF1279.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TACTTCAAGGCTGCATAATAA	0.308																																																0													61	60	61					18																	13681611		2203	4300	6503	SO:0001583	missense	0			AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 19"	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.466G>T	18.37:g.13681611C>A	ENSP00000323635:p.Ala156Ser		D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404971	0.42613	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.30448	1.53;1.53	5.51	2.75	0.32379	Domain of unknown function DUF1279 (1);	0.153093	0.64402	N	0.000019	T	0.27027	0.0662	L	0.50333	1.59	0.58432	D	0.999996	B	0.25809	0.135	B	0.32289	0.143	T	0.04005	-1.0985	10	0.27785	T	0.31	-2.7467	8.122	0.30976	0.1296:0.7341:0.0:0.1364	.	156	Q96ND0	CR019_HUMAN	S	156	ENSP00000323635:A156S;ENSP00000386115:A156S	ENSP00000323635:A156S	A	-	1	0	C18orf19	13671611	1.000000	0.71417	0.999000	0.59377	0.718000	0.41266	3.881000	0.56152	0.275000	0.22094	-0.150000	0.13652	GCC		0.308	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		A	13681611	C	A	13681611	3	1	520	1	0	0	0	0	1	0	0	0	1898	797	28	4	364	4	C18orf19	18	13681611	Missense_Mutation	SNP	C	TCGA-CJ-4895-01A-01D-1373-10		13681611	64395637	38	27783											
FZR1	51343	hgsc.bcm.edu	37	19	3531748	3531748	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:3531748G>A	ENST00000395095.3	+	8	757	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	FZR1_ENST00000313639.8_Missense_Mutation_p.V164M|FZR1_ENST00000441788.2_Missense_Mutation_p.V253M	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	253					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGGCTTCGTGCAGATCTG	0.672																																																0													56	58	57					19																	3531748		1829	3549	5378	SO:0001583	missense	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.757G>A	19.37:g.3531748G>A	ENSP00000378529:p.Val253Met		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997436	0.74818	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.38240	1.15;1.15;4.6	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	0.998;0.991;1.0	D;P;D	0.70935	0.971;0.872;0.945	T	0.78028	-0.2364	10	0.87932	D	0	-22.2044	17.2375	0.87004	0.0:0.0:1.0:0.0	.	253;164;253	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	M	253;253;164	ENSP00000410369:V253M;ENSP00000378529:V253M;ENSP00000321800:V164M	ENSP00000321800:V164M	V	+	1	0	FZR1	3482748	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	7.687000	0.84139	2.426000	0.82243	0.561000	0.74099	GTG		0.672	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		A	3531748	G	A	3531748	3	1	520	1	0	0	0	0	1	0	0	0	6140	1145	40	1	787	1	FZR1	19	3531748	Missense_Mutation	SNP	G	TCGA-CJ-4895-01A-01D-1373-10		3531748	55597235	39	27784											
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9061085	9061085	+	Silent	SNP	G	G	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:9061085G>T	ENST00000397910.4	-	3	26564	c.26361C>A	c.(26359-26361)atC>atA	p.I8787I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8789	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTTGGGGGTGATGGTCATTT	0.507																																																0													144	130	135					19																	9061085		1997	4171	6168	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26361C>A	19.37:g.9061085G>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9061085	G	T	9061085	2	4	520	1	0	0	0	0	0	0	0	1	9975	1280	45	4		4	MUC16	19	9061085	Silent	SNP	G	TCGA-CJ-4895-01A-01D-1373-10	5529337	9061085	50067898	40	27785											
ZNF699	374879	hgsc.bcm.edu;ucsc.edu	37	19	9406534	9406534	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:9406534A>T	ENST00000591998.1	-	6	1774	c.1546T>A	c.(1546-1548)Tcc>Acc	p.S516T	ZNF699_ENST00000308650.3_Missense_Mutation_p.S516T|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTAAGGTGGGAGGAACTAATA	0.443																																																0													93	99	97					19																	9406534		2203	4296	6499	SO:0001583	missense	374879			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1546T>A	19.37:g.9406534A>T	ENSP00000467723:p.Ser516Thr		Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.584712	0.46110	.	.	ENSG00000196110	ENST00000308650	T	0.07567	3.18	3.31	2.23	0.28157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37053	N	0.002274	T	0.07954	0.0199	L	0.54965	1.715	0.09310	N	1	B	0.30281	0.275	B	0.25759	0.063	T	0.22487	-1.0215	10	0.51188	T	0.08	.	7.1688	0.25706	0.8:0.0:0.0:0.2	.	516	Q32M78	ZN699_HUMAN	T	516	ENSP00000311596:S516T	ENSP00000311596:S516T	S	-	1	0	ZNF699	9267534	0.000000	0.05858	0.028000	0.17463	0.995000	0.86356	-0.086000	0.11233	0.596000	0.29794	0.454000	0.30748	TCC		0.443	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		T	9406534	A	T	9406534	3	4	520	1	0	0	0	0	1	0	0	0	18106	304	11	5	386	5	ZNF699	19	9406534	Missense_Mutation	SNP	A	TCGA-CJ-4895-01A-01D-1373-10	345449	9406534	49722449	41	27786											
RAD23A	5886	hgsc.bcm.edu;ucsc.edu	37	19	13058667	13058667	+	Silent	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:13058667G>A	ENST00000586534.1	+	2	139	c.78G>A	c.(76-78)aaG>aaA	p.K26K	RAD23A_ENST00000541222.1_De_novo_Start_OutOfFrame|RAD23A_ENST00000316856.3_Silent_p.K26K|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Silent_p.K26K			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	26	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TCTAGGTGAAGGTGCTAAAGG	0.507								Nucleotide excision repair (NER)																																								0													163	141	149					19																	13058667		2203	4300	6503	SO:0001819	synonymous_variant	5886				CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"RAD23, yeast homolog, A"	600061	"RAD23 (S. cerevisiae) homolog A"			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.78G>A	19.37:g.13058667G>A			K7ESE3|Q59EU8|Q5M7Z1	Silent	SNP	ENST00000586534.1	37	CCDS12289.1																																																																																				0.507	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		A	13058667	G	A	13058667	2	1	520	1	0	0	0	0	0	0	0	1	12988	991	35	2		2	RAD23A	19	13058667	Silent	SNP	G	TCGA-CJ-4895-01A-01D-1373-10	3652133	13058667	46070316	42	27787											
CACNA1A	773	hgsc.bcm.edu;ucsc.edu	37	19	13325357	13325357	+	Silent	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:13325357G>A	ENST00000360228.5	-	39	5796	c.5797C>T	c.(5797-5799)Ctg>Ttg	p.L1933L	CACNA1A_ENST00000573710.2_Silent_p.L1934L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1934					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCTGGGACAGATTGGGCCAA	0.587																																																0													64	69	67					19																	13325357		2174	4264	6438	SO:0001819	synonymous_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5797C>T	19.37:g.13325357G>A			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.587	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		A	13325357	G	A	13325357	2	1	520	1	0	0	0	0	0	0	0	1	2540	933	33	2		2	CACNA1A	19	13325357	Silent	SNP	G	TCGA-CJ-4895-01A-01D-1373-10	266690	13325357	45803626	43	27788											
LILRA5	353514	hgsc.bcm.edu;ucsc.edu	37	19	54822747	54822747	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:54822747A>C	ENST00000301219.3	-	5	768	c.649T>G	c.(649-651)Tct>Gct	p.S217A	LILRA5_ENST00000432233.3_Missense_Mutation_p.S217A|LILRA5_ENST00000446712.3_Missense_Mutation_p.S205A|LILRA5_ENST00000346508.3_Missense_Mutation_p.S205A|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	217	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCTGCGAGAGCCATAGCAT	0.587																																																0													77	76	76					19																	54822747		2203	4300	6503	SO:0001583	missense	353514			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.649T>G	19.37:g.54822747A>C	ENSP00000301219:p.Ser217Ala		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	A	9.631	1.136502	0.21123	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03772	3.81;3.81;3.81;3.81	2.61	1.52	0.23074	Immunoglobulin-like fold (1);	0.990786	0.08163	U	0.988103	T	0.08223	0.0205	L	0.58510	1.815	0.09310	N	1	B;B;B;B	0.26002	0.139;0.113;0.139;0.122	B;B;B;B	0.36244	0.182;0.14;0.117;0.22	T	0.44190	-0.9344	10	0.46703	T	0.11	.	5.5113	0.16882	0.7099:0.2901:0.0:0.0	.	205;217;205;217	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	A	217;205;205;217	ENSP00000301219:S217A;ENSP00000302948:S205A;ENSP00000389499:S205A;ENSP00000404236:S217A	ENSP00000301219:S217A	S	-	1	0	LILRA5	59514559	0.000000	0.05858	0.011000	0.14972	0.714000	0.41099	0.013000	0.13310	0.226000	0.20979	0.172000	0.16884	TCT		0.587	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		C	54822747	A	C	54822747	3	2	520	1	0	0	0	0	1	0	0	0	8790	304	11	5	348	5	LILRA5	19	54822747	Missense_Mutation	SNP	A	TCGA-CJ-4895-01A-01D-1373-10	41497390	54822747	4306236	44	27789											
SLC12A5	57468	hgsc.bcm.edu	37	20	44686173	44686173	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr20:44686173C>G	ENST00000454036.2	+	26	3398	c.3349C>G	c.(3349-3351)Ctc>Gtc	p.L1117V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L1094V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1117					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTCGAGGTCCTCACAGAGCA	0.657																																																0													51	56	54					20																	44686173		2203	4300	6503	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3349C>G	20.37:g.44686173C>G	ENSP00000387694:p.Leu1117Val		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910375	0.72983	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.57595	0.39;0.39	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000002	T	0.76335	0.3973	M	0.94021	3.485	0.80722	D	1	D;D	0.54964	0.969;0.964	P;P	0.59221	0.718;0.854	D	0.84339	0.0526	10	0.87932	D	0	.	15.819	0.78626	0.0:1.0:0.0:0.0	.	1117;1094	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	1117;1094	ENSP00000387694:L1117V;ENSP00000243964:L1094V	ENSP00000243964:L1094V	L	+	1	0	SLC12A5	44119580	0.998000	0.40836	1.000000	0.80357	0.938000	0.57974	2.644000	0.46613	2.189000	0.69895	0.555000	0.69702	CTC		0.657	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			G	44686173	C	G	44686173	3	3	520	1	0	0	0	0	1	0	0	0	14392	681	24	4	3507	4	SLC12A5	20	44686173	Missense_Mutation	SNP	C	TCGA-CJ-4895-01A-01D-1373-10		44686173	18339347	45	27790											
ODZ1	10178	hgsc.bcm.edu;ucsc.edu	37	X	123517592	123517592	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chrX:123517592G>A	ENST00000371130.3	-	29	7231	c.7168C>T	c.(7168-7170)Cat>Tat	p.H2390Y	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.H2397Y	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2390					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CATATGTGATGATTAGGCGTT	0.398																																																0													158	149	152					X																	123517592		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7168C>T	X.37:g.123517592G>A	ENSP00000360171:p.His2390Tyr		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	0.715	-0.785662	0.02907	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85339	-1.97;-1.94	5.58	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.71995	0.3406	N	0.20986	0.625	0.52501	D	0.999952	P;P;P	0.42827	0.791;0.791;0.698	B;B;B	0.38378	0.272;0.272;0.05	T	0.72211	-0.4359	10	0.02654	T	1	.	13.9275	0.63972	0.0752:0.0:0.9248:0.0	.	2396;2397;2390	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	2390;2397	ENSP00000360171:H2390Y;ENSP00000403954:H2397Y	ENSP00000360171:H2390Y	H	-	1	0	ODZ1	123345273	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.857000	0.55972	1.239000	0.43787	0.600000	0.82982	CAT		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		A	123517592	G	A	123517592	3	1	520	1	0	0	0	0	1	0	0	0	10836	1290	45	2	1021	2	ODZ1	23	123517592	Missense_Mutation	SNP	G	TCGA-CJ-4895-01A-01D-1373-10		123517592	31752968	46	27791											
DPH2	1802	broad.mit.edu	37	1	44436377	44436377	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr1:44436377G>A	ENST00000255108.3	+	2	429	c.257G>A	c.(256-258)gGc>gAc	p.G86D	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000396758.2_Missense_Mutation_p.G86D|DPH2_ENST00000412950.2_Missense_Mutation_p.A26T	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	86					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)		p.G86D(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACAGCCTACGGCAGGTGTGAA	0.562																																																1	Substitution - Missense(1)	kidney(1)											146	144	145					1																	44436377		2203	4300	6503	SO:0001583	missense	1802			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.257G>A	1.37:g.44436377G>A	ENSP00000255108:p.Gly86Asp		A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	CCDS504.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.227836|5.227836	0.95173|0.95173	.|.	.|.	ENSG00000132768|ENSG00000132768	ENST00000412950|ENST00000255108;ENST00000396758	.|T;T	.|0.75589	.|-0.95;-0.95	5.85|5.85	4.94|4.94	0.65067|0.65067	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88040|0.88040	0.6330|0.6330	M|M	0.88512|0.88512	2.96|2.96	0.30809|0.30809	N|N	0.739023|0.739023	B|D;B	0.11235|0.89917	0.004|1.0;0.103	B|D;B	0.14578|0.85130	0.011|0.997;0.138	D|D	0.88730|0.88730	0.3236|0.3236	8|10	0.12766|0.72032	T|D	0.61|0.01	-22.1567|-22.1567	15.1797|15.1797	0.72945|0.72945	0.0678:0.0:0.9322:0.0|0.0678:0.0:0.9322:0.0	.|.	26|86;86	B4DNI8|A8MVC9;Q9BQC3	.|.;DPH2_HUMAN	T|D	26|86	.|ENSP00000255108:G86D;ENSP00000379981:G86D	ENSP00000413862:A26T|ENSP00000255108:G86D	A|G	+|+	1|2	0|0	DPH2|DPH2	44208964|44208964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.897000|8.897000	0.92532|0.92532	1.481000|1.481000	0.48307|0.48307	-0.142000|-0.142000	0.14014|0.14014	GCA|GGC		0.562	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		A	44436377	G	A	44436377	3	1	521	1	0	0	0	0	1	0	0	0	4722	1203	42	2	263	2	DPH2	1	44436377	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08		44436377	204814244	1	27792											
KDM5B	10765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202743819	202743819	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr1:202743819C>G	ENST00000367265.3	-	3	1491	c.327G>C	c.(325-327)aaG>aaC	p.K109N	KDM5B_ENST00000367264.2_Missense_Mutation_p.K109N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	109	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.K109N(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACTCCCAGTACTTTGCAATCT	0.358																																																1	Substitution - Missense(1)	kidney(1)											86	87	86					1																	202743819		2203	4300	6503	SO:0001583	missense	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.327G>C	1.37:g.202743819C>G	ENSP00000356234:p.Lys109Asn		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079852	0.76528	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	T;T	0.64803	-0.12;-0.12	5.36	3.46	0.39613	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	M	0.77103	2.36	0.58432	D	0.999998	D;D	0.89917	1.0;0.962	D;D	0.87578	0.998;0.943	T	0.77958	-0.2392	10	0.87932	D	0	-27.6879	9.6274	0.39759	0.0:0.7983:0.0:0.2017	.	109;109	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	109	ENSP00000356234:K109N;ENSP00000356233:K109N	ENSP00000356233:K109N	K	-	3	2	KDM5B	201010442	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.992000	0.40737	2.504000	0.84457	0.557000	0.71058	AAG		0.358	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		G	202743819	C	G	202743819	3	3	521	1	0	0	0	0	1	0	0	0	8136	564	20	4	4407	4	KDM5B	1	202743819	Missense_Mutation	SNP	C	TCGA-CJ-4897-01A-03D-1429-08	158307442	202743819	46506802	2	27793											
PUM2	23369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	20511383	20511383	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr2:20511383A>T	ENST00000361078.2	-	4	412	c.390T>A	c.(388-390)gaT>gaA	p.D130E	PUM2_ENST00000536417.1_Missense_Mutation_p.D74E|PUM2_ENST00000403432.1_Missense_Mutation_p.D130E|PUM2_ENST00000338086.5_Missense_Mutation_p.D130E|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000319801.5_Missense_Mutation_p.D130E			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	130	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.D130E(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCTTTTTGATCTCCTTTCT	0.383																																																1	Substitution - Missense(1)	kidney(1)											143	129	134					2																	20511383		2203	4300	6503	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.390T>A	2.37:g.20511383A>T	ENSP00000354370:p.Asp130Glu		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	A	3.998	-0.003081	0.07773	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.18810	2.21;2.47;2.5;2.25;2.21;2.19	5.98	5.98	0.97165	.	0.127557	0.64402	D	0.000001	T	0.08268	0.0206	N	0.03115	-0.41	0.40456	D	0.98019	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.34254	-0.9836	10	0.17369	T	0.5	-8.6164	6.7193	0.23321	0.7929:0.0:0.0708:0.1363	.	74;130;130	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	E	130;130;130;21;130;74;130	ENSP00000338173:D130E;ENSP00000354370:D130E;ENSP00000326746:D130E;ENSP00000409905:D21E;ENSP00000385992:D130E;ENSP00000440093:D74E	ENSP00000326746:D130E	D	-	3	2	PUM2	20374864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.969000	0.40510	2.289000	0.77006	0.533000	0.62120	GAT		0.383	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		T	20511383	A	T	20511383	3	4	521	1	0	0	0	0	1	0	0	0	12832	330	12	5	2872	5	PUM2	2	20511383	Missense_Mutation	SNP	A	TCGA-CJ-4897-01A-03D-1429-08		20511383	222687990	3	27794											
PREPL	9581	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44556213	44556213	+	Silent	SNP	A	A	C			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr2:44556213A>C	ENST00000409936.1	-	10	1829	c.1392T>G	c.(1390-1392)acT>acG	p.T464T	PREPL_ENST00000378520.3_Silent_p.T398T|PREPL_ENST00000378511.3_Silent_p.T402T|PREPL_ENST00000410081.1_Silent_p.T464T|PREPL_ENST00000409411.1_Silent_p.T375T|PREPL_ENST00000260648.6_Silent_p.T464T|PREPL_ENST00000409957.1_Silent_p.T375T|PREPL_ENST00000541738.1_Silent_p.T375T|PREPL_ENST00000409272.1_Silent_p.T464T	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	464						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.T464T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTCAGAGTCAGTTTTGTGGA	0.378																																																1	Substitution - coding silent(1)	kidney(1)											86	86	86					2																	44556213		2203	4300	6503	SO:0001819	synonymous_variant	9581			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1392T>G	2.37:g.44556213A>C			A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	ENST00000409936.1	37	CCDS33190.1																																																																																				0.378	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		C	44556213	A	C	44556213	2	2	521	1	0	0	0	0	0	0	0	1	12480	175	7	5		5	PREPL	2	44556213	Silent	SNP	A	TCGA-CJ-4897-01A-03D-1429-08	24044830	44556213	198643160	4	27795											
ITPRIPL1	150771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	96992895	96992895	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr2:96992895G>T	ENST00000439118.2	+	3	777	c.526G>T	c.(526-528)Gtc>Ttc	p.V176F	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.V168F|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.V168F|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.V184F	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	176						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V184F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAAACACTATGTCCAAAATGC	0.552																																																1	Substitution - Missense(1)	kidney(1)											112	109	110					2																	96992895		2203	4300	6503	SO:0001583	missense	150771				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"KIAA1754-like", "inositol 1,4,5-triphosphate receptor interacting protein-like 1"	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.526G>T	2.37:g.96992895G>T	ENSP00000389308:p.Val176Phe		F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	CCDS46360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.172|7.172	0.587775|0.587775	0.13812|0.13812	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000420728|ENST00000420176;ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	.|T;T;T;T	.|0.20881	.|2.05;2.05;2.04;2.05	5.08|5.08	-2.39|-2.39	0.06602|0.06602	.|.	.|0.415651	.|0.17503	.|N	.|0.171918	T|T	0.08492|0.08492	0.0211|0.0211	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999993|0.999993	.|B;B	.|0.31859	.|0.343;0.232	.|B;B	.|0.29942	.|0.109;0.051	T|T	0.23904|0.23904	-1.0175|-1.0175	5|10	.|0.46703	.|T	.|0.11	-0.0573|-0.0573	7.8614|7.8614	0.29511|0.29511	0.4971:0.1173:0.3856:0.0|0.4971:0.1173:0.3856:0.0	.|.	.|184;176	.|Q6GPH6-2;Q6GPH6	.|.;IPIL1_HUMAN	I|F	207|168;168;176;184;168	.|ENSP00000439566:V168F;ENSP00000389308:V176F;ENSP00000355121:V184F;ENSP00000438212:V168F	.|ENSP00000355121:V184F	M|V	+|+	3|1	0|0	ITPRIPL1|ITPRIPL1	96356622|96356622	0.326000|0.326000	0.24669|0.24669	0.026000|0.026000	0.17262|0.17262	0.796000|0.796000	0.44982|0.44982	0.661000|0.661000	0.25023|0.25023	-0.312000|-0.312000	0.08741|0.08741	-0.793000|-0.793000	0.03317|0.03317	ATG|GTC		0.552	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		T	96992895	G	T	96992895	3	4	521	1	0	0	0	0	1	0	0	0	7926	1377	48	4	566	4	ITPRIPL1	2	96992895	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	52436682	96992895	146206478	5	27796											
ALPP	250	broad.mit.edu;hgsc.bcm.edu	37	2	233246013	233246013	+	Silent	SNP	C	C	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr2:233246013C>T	ENST00000392027.2	+	10	1514	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	415					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.Y415Y(2)|p.Y415*(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCCTCCTATACGGAAACGGTC	0.667																																																3	Substitution - coding silent(2)|Substitution - Nonsense(1)	kidney(2)|large_intestine(1)											35	45	42					2																	233246013		2202	4296	6498	SO:0001819	synonymous_variant	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1245C>T	2.37:g.233246013C>T			P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	CCDS2490.1																																																																																				0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		T	233246013	C	T	233246013	2	4	521	1	0	0	0	0	0	0	0	1	548	547	19	1		1	ALPP	2	233246013	Silent	SNP	C	TCGA-CJ-4897-01A-03D-1429-08	136253118	233246013	9953360	6	27797											
POLQ	10721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121207746	121207746	+	Silent	SNP	T	T	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr3:121207746T>A	ENST00000264233.5	-	16	4160	c.4032A>T	c.(4030-4032)gcA>gcT	p.A1344A		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1344					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.A1479A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGGTGTCCTTTGCTCCTAGTT	0.413								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											1	Substitution - coding silent(1)	kidney(1)											211	185	194					3																	121207746		2203	4300	6503	SO:0001819	synonymous_variant	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4032A>T	3.37:g.121207746T>A			O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	CCDS33833.1																																																																																				0.413	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		A	121207746	T	A	121207746	2	1	521	1	0	0	0	0	0	0	0	1	12210	1799	63	5		5	POLQ	3	121207746	Silent	SNP	T	TCGA-CJ-4897-01A-03D-1429-08		121207746	76814684	7	27798											
DNAJB8	165721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128181497	128181497	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr3:128181497G>A	ENST00000469083.1	-	2	3149	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Missense_Mutation_p.R198C			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	198					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)	p.R198C(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCCACGATGCGCTTGGTGGTG	0.602																																																1	Substitution - Missense(1)	kidney(1)											154	125	134					3																	128181497		2203	4300	6503	SO:0001583	missense	165721				CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.592C>T	3.37:g.128181497G>A	ENSP00000417418:p.Arg198Cys		B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101449	0.37048	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.49432	0.78;0.78	4.75	1.68	0.24146	.	0.131699	0.47455	D	0.000229	T	0.65709	0.2717	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	P	0.57324	0.818	T	0.72181	-0.4368	10	0.87932	D	0	.	11.8136	0.52195	0.0:0.0:0.3542:0.6457	.	198	Q8NHS0	DNJB8_HUMAN	C	198	ENSP00000417418:R198C;ENSP00000316053:R198C	ENSP00000316053:R198C	R	-	1	0	DNAJB8	129664187	1.000000	0.71417	0.996000	0.52242	0.084000	0.17831	4.227000	0.58612	0.399000	0.25367	-0.310000	0.09108	CGC		0.602	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		A	128181497	G	A	128181497	3	1	521	1	0	0	0	0	1	0	0	0	4628	1087	38	1	110	1	DNAJB8	3	128181497	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	6973751	128181497	69840933	8	27799											
LIAS	11019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	39472863	39472863	+	Silent	SNP	T	T	C			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr4:39472863T>C	ENST00000513731.1	+	5	553	c.501T>C	c.(499-501)cgT>cgC	p.R167R	LIAS_ENST00000340169.2_Silent_p.R297R|LIAS_ENST00000381846.1_Silent_p.R254R|LIAS_ENST00000261434.3_Silent_p.R297R					lipoic acid synthetase									p.R297R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						CAGCACTTCGTGAGGCAGATG	0.333																																																1	Substitution - coding silent(1)	kidney(1)											123	114	117					4																	39472863		2203	4300	6503	SO:0001819	synonymous_variant	11019			AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000513731.1:c.501T>C	4.37:g.39472863T>C				Silent	SNP	ENST00000513731.1	37																																																																																					0.333	LIAS-006	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000361037.1	NM_194451		C	39472863	T	C	39472863	2	2	521	1	0	0	0	0	0	0	0	1	8780	1683	59	3		3	LIAS	4	39472863	Silent	SNP	T	TCGA-CJ-4897-01A-03D-1429-08		39472863	151681413	9	27800											
ANK2	287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	114267059	114267059	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr4:114267059C>T	ENST00000357077.4	+	35	4305	c.4252C>T	c.(4252-4254)Cgc>Tgc	p.R1418C	ANK2_ENST00000510275.2_Missense_Mutation_p.R70C|ANK2_ENST00000394537.3_Missense_Mutation_p.R1418C|ANK2_ENST00000509550.1_Missense_Mutation_p.R594C|ANK2_ENST00000506722.1_Missense_Mutation_p.R1409C|ANK2_ENST00000264366.6_Missense_Mutation_p.R1385C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1418	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R1418C(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTTCAAGGTACGCGATACGAC	0.398																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											109	95	100					4																	114267059		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4252C>T	4.37:g.114267059C>T	ENSP00000349588:p.Arg1418Cys		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.975923|3.975923	0.74360|0.74360	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275|ENST00000514960;ENST00000504415	T;T;T;T;T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.53938|.	D|.	0.000057|.	D|D	0.82504|0.82504	0.5051|0.5051	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|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|.	0.994;0.998;0.992;0.998;1.0;0.999;0.999|.	T|T	0.81326|0.81326	-0.0983|-0.0983	10|5	0.87932|.	D|.	0|.	.|.	20.6721|20.6721	0.99693|0.99693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	594;1385;464;430;1418;1418;1409|.	E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;ANK2_HUMAN;.;.;.;.;.|.	C|M	1331;1409;464;1433;1418;1418;1385;1409;594;70|430;70	ENSP00000421011:R1331C;ENSP00000421067:R1409C;ENSP00000424722:R1433C;ENSP00000378044:R1418C;ENSP00000349588:R1418C;ENSP00000264366:R1385C;ENSP00000426944:R594C;ENSP00000421023:R70C|.	ENSP00000264366:R1385C|.	R|T	+|+	1|2	0|0	ANK2|ANK2	114486508|114486508	0.997000|0.997000	0.39634|0.39634	0.995000|0.995000	0.50966|0.50966	0.402000|0.402000	0.30811|0.30811	3.299000|3.299000	0.51826|0.51826	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CGC|ACG		0.398	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		T	114267059	C	T	114267059	3	4	521	1	0	0	0	0	1	0	0	0	621	536	19	1	4455	1	ANK2	4	114267059	Missense_Mutation	SNP	C	TCGA-CJ-4897-01A-03D-1429-08	74794196	114267059	76887217	10	27801											
SLC36A1	206358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150867782	150867782	+	Silent	SNP	C	C	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr5:150867782C>T	ENST00000243389.3	+	11	1621	c.1398C>T	c.(1396-1398)ccC>ccT	p.P466P	SLC36A1_ENST00000520701.1_Silent_p.P466P	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	466					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.P466P(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GCAATGCTCCCATCTTCATCA	0.557																																					Melanoma(151;1534 1860 12947 32979 37872)											1	Substitution - coding silent(1)	kidney(1)											99	88	92					5																	150867782		2203	4300	6503	SO:0001819	synonymous_variant	206358			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1398C>T	5.37:g.150867782C>T			C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Silent	SNP	ENST00000243389.3	37	CCDS4316.1																																																																																				0.557	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		T	150867782	C	T	150867782	2	4	521	1	0	0	0	0	0	0	0	1	14599	581	21	2		2	SLC36A1	5	150867782	Silent	SNP	C	TCGA-CJ-4897-01A-03D-1429-08		150867782	30047478	11	27802											
FAT2	2196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150948075	150948075	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr5:150948075C>A	ENST00000261800.5	-	1	430	c.418G>T	c.(418-420)Gac>Tac	p.D140Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	140	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D140Y(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATTCTGGTCCAGGATGTGG	0.547																																																1	Substitution - Missense(1)	kidney(1)											114	107	110					5																	150948075		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.418G>T	5.37:g.150948075C>A	ENSP00000261800:p.Asp140Tyr		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389300	0.82902	.	.	ENSG00000086570	ENST00000261800	T	0.76316	-1.01	5.45	5.45	0.79879	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.93334	0.7875	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95737	0.8780	10	0.87932	D	0	.	19.3012	0.94144	0.0:1.0:0.0:0.0	.	140	Q9NYQ8	FAT2_HUMAN	Y	140	ENSP00000261800:D140Y	ENSP00000261800:D140Y	D	-	1	0	FAT2	150928268	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.755000	0.85180	2.553000	0.86117	0.555000	0.69702	GAC		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		A	150948075	C	A	150948075	3	1	521	1	0	0	0	0	1	0	0	0	5692	855	30	4	12723	4	FAT2	5	150948075	Missense_Mutation	SNP	C	TCGA-CJ-4897-01A-03D-1429-08	80293	150948075	29967185	12	27803											
VPS52	6293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33231657	33231657	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr6:33231657C>T	ENST00000445902.2	-	16	1839		c.e16-1		VPS52_ENST00000436044.2_Splice_Site|VPS52_ENST00000478934.1_Splice_Site|VPS52_ENST00000482399.1_Splice_Site	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)						ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCACCTCCACCTGAAAAGGCA	0.542																																																1	Unknown(1)	kidney(1)											61	55	57					6																	33231657		2203	4300	6503	SO:0001630	splice_region_variant	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1621-1G>A	6.37:g.33231657C>T			A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Splice_Site	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628042	0.66901	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7008	0.77541	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS52	33339635	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.354000	0.73036	2.647000	0.89833	0.446000	0.29264	.		0.542	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	Intron	T	33231657	C	T	33231657	5	4	521	1	0	0	0	0	0	0	1	0	17219	695	24	2	571	2	VPS52	6	33231657	Splice_Site	SNP	C	TCGA-CJ-4897-01A-03D-1429-08		33231657	137883410	13	27804											
APOBEC2	10930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41021140	41021140	+	Silent	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr6:41021140G>A	ENST00000244669.2	+	1	98	c.54G>A	c.(52-54)ggG>ggA	p.G18G		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	18					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G18G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCAGAATGGGGAGGATCTGG	0.597																																					Ovarian(118;1320 2185 8096 29684)											1	Substitution - coding silent(1)	kidney(1)											76	72	73					6																	41021140		2203	4300	6503	SO:0001819	synonymous_variant	10930			AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"Apolipoprotein B mRNA editing enzymes"	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.54G>A	6.37:g.41021140G>A			B2R899|Q53F28|Q5TGU5|Q5TGU6	Silent	SNP	ENST00000244669.2	37	CCDS4848.1																																																																																				0.597	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		A	41021140	G	A	41021140	2	1	521	1	0	0	0	0	0	0	0	1	788	1219	43	2		2	APOBEC2	6	41021140	Silent	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	7789483	41021140	130093927	14	27805											
GPR116	221395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46849806	46849806	+	Silent	SNP	G	G	A	rs202152357		TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr6:46849806G>A	ENST00000283296.7	-	7	939	c.651C>T	c.(649-651)ggC>ggT	p.G217G	GPR116_ENST00000265417.7_Silent_p.G217G|GPR116_ENST00000362015.4_Silent_p.G217G|GPR116_ENST00000456426.2_Silent_p.G217G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	217	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G217G(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCACAGTCACGCCCTTGAAGC	0.388																																					NSCLC(59;410 1274 8751 36715 50546)											1	Substitution - coding silent(1)	kidney(1)						G	,	0,4406		0,0,2203	158	168	165		651,651	-4.5	0.1	6		165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GPR116	NM_001098518.1,NM_015234.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	217/1347,217/1347	46849806	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.651C>T	6.37:g.46849806G>A			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	CCDS4919.1																																																																																				0.388	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		A	46849806	G	A	46849806	2	1	521	1	0	0	0	0	0	0	0	1	6635	1074	38	1		1	GPR116	6	46849806	Silent	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	5828666	46849806	124265261	15	27806											
MAP3K5	4217	hgsc.bcm.edu;ucsc.edu	37	6	137015318	137015319	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr6:137015318_137015319insA	ENST00000359015.4	-	7	1572_1573	c.1212_1213insT	c.(1210-1215)tctaatfs	p.N405fs		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	405					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCCGTGAAATTAGAGTCCAAAA	0.361																																																0																																										SO:0001589	frameshift_variant	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1213dupT	6.37:g.137015319_137015319dupA	ENSP00000351908:p.Asn405fs		A6NIA0|B4DGB2|Q5THN3|Q99461	Frame_Shift_Del	INS	ENST00000359015.4	37	CCDS5179.1																																																																																				0.361	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			A	137015319	-	A	137015318	7	5	521	1	0	1	1	0	0	0	0	0	9255	1754	61	0	3007	0	MAP3K5	6	137015318	Frame_Shift_Ins	INS	-	TCGA-CJ-4897-01A-03D-1429-08	90165512	137015318	34099749	16	27807											
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu	37	6	152599304	152599304	+	Silent	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr6:152599304G>A	ENST00000367255.5	-	98	19094	c.18493C>T	c.(18493-18495)Ctg>Ttg	p.L6165L	SYNE1_ENST00000423061.1_Silent_p.L6094L|SYNE1_ENST00000448038.1_Silent_p.L6094L|SYNE1_ENST00000341594.5_Silent_p.L5777L|SYNE1_ENST00000265368.4_Silent_p.L6165L|SYNE1_ENST00000356820.4_Silent_p.L689L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6165					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L6165L(2)|p.L6094L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCCAGCCAGCTGCTCGGCC	0.572										HNSCC(10;0.0054)																																						3	Substitution - coding silent(3)	kidney(3)											114	117	116					6																	152599304		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18493C>T	6.37:g.152599304G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.572	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152599304	G	A	152599304	2	1	521	1	0	0	0	0	0	0	0	1	15450	962	34	2		2	SYNE1	6	152599304	Silent	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	15583986	152599304	18515763	17	27808											
ICA1	3382	broad.mit.edu;ucsc.edu	37	7	8178473	8178473	+	Missense_Mutation	SNP	C	C	G	rs143861719	byFrequency	TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr7:8178473C>G	ENST00000402384.3	-	12	1323	c.1057G>C	c.(1057-1059)Ggt>Cgt	p.G353R	ICA1_ENST00000396675.3_Missense_Mutation_p.G353R|ICA1_ENST00000265577.7_Missense_Mutation_p.G352R|ICA1_ENST00000401396.1_Missense_Mutation_p.G341R|ICA1_ENST00000422063.2_Missense_Mutation_p.G382R|ICA1_ENST00000406470.2_Missense_Mutation_p.G353R			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	353					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.G353R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATCTTACCACCTTCCTCAGAT	0.289																																																1	Substitution - Missense(1)	kidney(1)						C	ARG/GLY,ARG/GLY,ARG/GLY	1,4401	2.1+/-5.4	0,1,2200	84	96	92		1057,1057,1057	2.8	1	7	dbSNP_134	92	10,8584	7.7+/-29.5	0,10,4287	yes	missense,missense,missense	ICA1	NM_001136020.1,NM_004968.2,NM_022307.2	125,125,125	0,11,6487	GG,GC,CC		0.1164,0.0227,0.0846	possibly-damaging,possibly-damaging,possibly-damaging	353/484,353/484,353/484	8178473	11,12985	2201	4297	6498	SO:0001583	missense	3382				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"islet cell autoantigen 1 (69kD)"			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1057G>C	7.37:g.8178473C>G	ENSP00000385570:p.Gly353Arg		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	C	8.070	0.770065	0.15983	2.27E-4	0.001164	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	4.65	2.85	0.33270	Islet cell autoantigen Ica1, C-terminal (1);	0.735454	0.13439	N	0.387857	T	0.22627	0.0546	N	0.22421	0.69	0.26223	N	0.97913	B;P;P;B	0.34864	0.029;0.473;0.473;0.395	B;B;B;B	0.38106	0.055;0.265;0.265;0.229	T	0.13953	-1.0490	9	0.17369	T	0.5	.	5.8911	0.18913	0.0:0.7301:0.0:0.2699	.	382;352;353;341	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	R	353;353;352;353;341;382	.	ENSP00000265577:G352R	G	-	1	0	ICA1	8144998	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	1.412000	0.34714	1.343000	0.45638	-0.119000	0.15052	GGT		0.289	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		G	8178473	C	G	8178473	3	3	521	1	0	0	0	0	1	0	0	0	7479	681	24	4	406	4	ICA1	7	8178473	Missense_Mutation	SNP	C	TCGA-CJ-4897-01A-03D-1429-08		8178473	150960190	18	27809											
ABCB5	340273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	20768032	20768032	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr7:20768032G>A	ENST00000404938.2	+	23	3473	c.2821G>A	c.(2821-2823)Gcc>Acc	p.A941T	ABCB5_ENST00000258738.6_Missense_Mutation_p.A496T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	941	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.A941T(1)|p.A496T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCGATTTGGAGCCTATTTAAT	0.443																																																2	Substitution - Missense(2)	kidney(2)											112	110	111					7																	20768032		2203	4300	6503	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2821G>A	7.37:g.20768032G>A	ENSP00000384881:p.Ala941Thr		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736211	0.49045	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.89123	-2.47;-2.47	3.91	2.05	0.26809	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.932149	0.08886	N	0.879289	D	0.90937	0.7151	M	0.80028	2.48	0.31317	N	0.686477	B;B;B	0.23990	0.063;0.095;0.06	B;B;B	0.39771	0.119;0.189;0.309	D	0.87262	0.2280	10	0.62326	D	0.03	.	7.5797	0.27957	0.2282:0.0:0.7718:0.0	.	941;119;496	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	T	941;496	ENSP00000384881:A941T;ENSP00000258738:A496T	ENSP00000258738:A496T	A	+	1	0	ABCB5	20734557	0.997000	0.39634	0.987000	0.45799	0.856000	0.48823	3.583000	0.53928	0.585000	0.29608	-0.150000	0.13652	GCC		0.443	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		A	20768032	G	A	20768032	3	1	521	1	0	0	0	0	1	0	0	0	44	971	34	2	2948	2	ABCB5	7	20768032	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	12589559	20768032	138370631	19	27810											
KBTBD2	25948	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	32909021	32909021	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr7:32909021A>G	ENST00000304056.4	-	4	2507	c.1808T>C	c.(1807-1809)tTt>tCt	p.F603S	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'Flank	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	603								p.F603S(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATCCGTTGAAAAAAGATAAGT	0.483																																																1	Substitution - Missense(1)	kidney(1)											108	103	104					7																	32909021		2203	4300	6503	SO:0001583	missense	25948			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"BTB/POZ domain containing"	21751	protein-coding gene	gene with protein product			"BTB and kelch domain containing 1"	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1808T>C	7.37:g.32909021A>G	ENSP00000302586:p.Phe603Ser		A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928313	0.52759	.	.	ENSG00000170852	ENST00000304056	T	0.68624	-0.34	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	N	0.24115	0.695	0.54753	D	0.999983	P	0.34724	0.465	B	0.30646	0.118	T	0.59994	-0.7349	10	0.87932	D	0	.	15.4431	0.75204	1.0:0.0:0.0:0.0	.	603	Q8IY47	KBTB2_HUMAN	S	603	ENSP00000302586:F603S	ENSP00000302586:F603S	F	-	2	0	KBTBD2	32875546	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	9.339000	0.96797	2.064000	0.61679	0.482000	0.46254	TTT		0.483	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		G	32909021	A	G	32909021	3	3	521	1	0	0	0	0	1	0	0	0	7995	14	1	3	67	3	KBTBD2	7	32909021	Missense_Mutation	SNP	A	TCGA-CJ-4897-01A-03D-1429-08	12140989	32909021	126229642	20	27811											
MLL5	55904	hgsc.bcm.edu;ucsc.edu	37	7	104748211	104748211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr7:104748211delG	ENST00000311117.3	+	22	3852	c.3307delG	c.(3307-3309)gagfs	p.E1103fs	KMT2E_ENST00000334914.7_Frame_Shift_Del_p.E158fs|KMT2E_ENST00000334877.4_Frame_Shift_Del_p.E1103fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.E1103fs|CTB-152G17.6_ENST00000607968.1_RNA|SRPK2_ENST00000493638.1_5'Flank	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1103					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E1103Q(1)									CCGAATAAGTGAGTCAAAGTG	0.488																																																1	Substitution - Missense(1)	NS(1)											93	90	91					7																	104748211		2203	4300	6503	SO:0001589	frameshift_variant	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3307delG	7.37:g.104748211delG	ENSP00000312379:p.Glu1103fs		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Del	DEL	ENST00000311117.3	37	CCDS34723.1																																																																																				0.488	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			-	104748211	G	-	104748211	7	5	521	1	0	1	0	1	0	0	0	0	9626	1291	45	0	3385	0	MLL5	7	104748211	Frame_Shift_Del	DEL	G	TCGA-CJ-4897-01A-03D-1429-08	71839190	104748211	54390452	21	27812											
MLL5	55904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	104752966	104752966	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr7:104752966A>G	ENST00000311117.3	+	27	5308	c.4763A>G	c.(4762-4764)cAa>cGa	p.Q1588R	KMT2E_ENST00000334877.4_Missense_Mutation_p.Q1546R|KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1588R|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1588	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Q1588R(1)									GGACCAAATCAAGCACTTCCT	0.448																																																1	Substitution - Missense(1)	kidney(1)											137	128	131					7																	104752966		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4763A>G	7.37:g.104752966A>G	ENSP00000312379:p.Gln1588Arg		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	9.860	1.196049	0.22037	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93307	-3.2;-3.17;-3.2	3.34	2.1	0.27182	.	0.168583	0.28082	N	0.016670	D	0.91476	0.7309	N	0.24115	0.695	0.80722	D	1	D;D	0.61697	0.99;0.967	P;P	0.62382	0.782;0.901	D	0.87681	0.2547	10	0.33940	T	0.23	.	9.4369	0.38643	0.8202:0.1798:0.0:0.0	.	1508;1588	F8W6H1;Q8IZD2	.;MLL5_HUMAN	R	1588;1546;1508;1588	ENSP00000312379:Q1588R;ENSP00000335599:Q1546R;ENSP00000257745:Q1588R	ENSP00000257745:Q1588R	Q	+	2	0	MLL5	104540202	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.958000	0.40402	0.277000	0.22141	0.254000	0.18369	CAA		0.448	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			G	104752966	A	G	104752966	3	3	521	1	0	0	0	0	1	0	0	0	9626	130	5	3	4861	3	MLL5	7	104752966	Missense_Mutation	SNP	A	TCGA-CJ-4897-01A-03D-1429-08	4755	104752966	54385697	22	27813											
NOS3	4846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150693640	150693640	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr7:150693640G>T	ENST00000484524.1	+	3	419	c.419G>T	c.(418-420)aGg>aTg	p.R140M	NOS3_ENST00000467517.1_Splice_Site_p.R140M|NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Splice_Site_p.R140M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R140M(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCATTAAGAGGTGACAGCTT	0.642																																																1	Substitution - Missense(1)	kidney(1)											26	27	27					7																	150693640		2187	4279	6466	SO:0001630	splice_region_variant	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.419+1G>T	7.37:g.150693640G>T			Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544106	0.65198	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.24908	1.83;1.83;1.83	4.98	4.98	0.66077	Nitric oxide synthase, oxygenase domain (3);	0.091468	0.44688	D	0.000435	T	0.39937	0.1097	M	0.77313	2.365	0.58432	D	0.999998	B;B;B;B	0.34103	0.081;0.081;0.437;0.256	B;B;B;B	0.41619	0.087;0.087;0.361;0.272	T	0.39961	-0.9588	10	0.59425	D	0.04	-9.1718	15.8176	0.78615	0.0:0.0:1.0:0.0	.	140;140;140;140	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	M	140	ENSP00000297494:R140M;ENSP00000420215:R140M;ENSP00000420551:R140M	ENSP00000297494:R140M	R	+	2	0	NOS3	150324573	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	7.740000	0.84986	2.312000	0.78011	0.543000	0.68304	AGG		0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	Missense_Mutation	T	150693640	G	T	150693640	5	4	521	1	0	0	0	0	0	0	1	0	10546	1014	35	4	429	4	NOS3	7	150693640	Splice_Site	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	45940674	150693640	8445023	23	27814											
FREM1	158326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	14823201	14823201	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr9:14823201C>G	ENST00000380880.3	-	13	3077	c.2294G>C	c.(2293-2295)tGc>tCc	p.C765S	FREM1_ENST00000380881.4_Missense_Mutation_p.C766S|FREM1_ENST00000422223.2_Missense_Mutation_p.C765S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	765					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.C766S(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AATGTTAAAGCAGATCCCATG	0.443																																																1	Substitution - Missense(1)	kidney(1)											135	128	130					9																	14823201		1918	4128	6046	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2294G>C	9.37:g.14823201C>G	ENSP00000370262:p.Cys765Ser		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011711	0.75046	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.37235	1.21;1.21;1.21	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	L	0.58302	1.8	0.80722	D	1	P	0.51449	0.945	P	0.44732	0.459	T	0.19063	-1.0317	10	0.09843	T	0.71	-13.6522	19.7555	0.96287	0.0:1.0:0.0:0.0	.	765	Q5H8C1	FREM1_HUMAN	S	766;765;765	ENSP00000370263:C766S;ENSP00000412940:C765S;ENSP00000370262:C765S	ENSP00000370257:C768S	C	-	2	0	FREM1	14813201	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.445000	0.80570	2.737000	0.93849	0.563000	0.77884	TGC		0.443	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		G	14823201	C	G	14823201	3	3	521	1	0	0	0	0	1	0	0	0	6046	710	25	4	4395	4	FREM1	9	14823201	Missense_Mutation	SNP	C	TCGA-CJ-4897-01A-03D-1429-08		14823201	126390230	24	27815											
HEMGN	55363	broad.mit.edu;ucsc.edu	37	9	100693156	100693156	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr9:100693156G>T	ENST00000259456.3	-	4	664	c.521C>A	c.(520-522)cCt>cAt	p.P174H		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	174					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.P174H(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTACATTTTAGGAGAGAGGTC	0.373																																																1	Substitution - Missense(1)	kidney(1)											222	223	222					9																	100693156		2203	4300	6503	SO:0001583	missense	55363			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.521C>A	9.37:g.100693156G>T	ENSP00000259456:p.Pro174His		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807559	0.50421	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.37	5.37	0.77165	.	0.129530	0.52532	D	0.000071	T	0.73265	0.3565	M	0.66939	2.045	0.36385	D	0.86213	D	0.89917	1.0	D	0.71870	0.975	T	0.79531	-0.1765	9	0.72032	D	0.01	-6.2927	15.05	0.71862	0.0:0.0:1.0:0.0	.	174	Q9BXL5	HEMGN_HUMAN	H	174	.	ENSP00000259456:P174H	P	-	2	0	HEMGN	99732977	0.999000	0.42202	0.602000	0.28890	0.077000	0.17291	3.610000	0.54125	2.718000	0.92993	0.586000	0.80456	CCT		0.373	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		T	100693156	G	T	100693156	3	4	521	1	0	0	0	0	1	0	0	0	7052	1000	35	4	941	4	HEMGN	9	100693156	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	85869955	100693156	40520275	25	27816											
FRMPD2	143162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	49392912	49392912	+	Frame_Shift_Del	DEL	T	T	-	rs529008159		TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr10:49392912delT	ENST00000374201.3	-	19	2674	c.2372delA	c.(2371-2373)aatfs	p.N791fs	FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.N759fs|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.N766fs	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	791	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTCTCCCTCATTAATGACAAA	0.393																																																0													77	72	74					10																	49392912		2203	4300	6503	SO:0001589	frameshift_variant	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2372delA	10.37:g.49392912delT	ENSP00000363317:p.Asn791fs		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Frame_Shift_Del	DEL	ENST00000374201.3	37	CCDS31195.1																																																																																				0.393	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		-	49392912	T	-	49392912	7	5	521	1	0	1	0	1	0	0	0	0	6060	1493	52	0	1601	0	FRMPD2	10	49392912	Frame_Shift_Del	DEL	T	TCGA-CJ-4897-01A-03D-1429-08		49392912	86141835	26	27817											
JMJD1C	221037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	64957276	64957276	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr10:64957276C>T	ENST00000399262.2	-	13	5757	c.5539G>A	c.(5539-5541)Gat>Aat	p.D1847N	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D1665N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D1628N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1847					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.D1847N(1)|p.D1628N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCACATGCATCACACATCTCC	0.403																																																2	Substitution - Missense(2)	kidney(2)											131	121	124					10																	64957276		1931	4162	6093	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5539G>A	10.37:g.64957276C>T	ENSP00000382204:p.Asp1847Asn		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690573	0.96793	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	D;T;T	0.88896	-2.44;-0.97;-0.66	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95159	0.8431	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.95006	0.8147	10	0.72032	D	0.01	-21.3799	20.1041	0.97884	0.0:1.0:0.0:0.0	.	1388;1847;1665	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	N	1847;1628;1665	ENSP00000382204:D1847N;ENSP00000384990:D1628N;ENSP00000444682:D1665N	ENSP00000382204:D1847N	D	-	1	0	JMJD1C	64627282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.826000	0.97356	0.655000	0.94253	GAT		0.403	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		T	64957276	C	T	64957276	3	4	521	1	0	0	0	0	1	0	0	0	7952	826	29	2	2139	2	JMJD1C	10	64957276	Missense_Mutation	SNP	C	TCGA-CJ-4897-01A-03D-1429-08	15564364	64957276	70577471	27	27818											
FAM190B	54462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	86132205	86132205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr10:86132205G>A	ENST00000224756.8	+	2	1582	c.1397G>A	c.(1396-1398)tGg>tAg	p.W466*	CCSER2_ENST00000372088.2_Nonsense_Mutation_p.W466*|CCSER2_ENST00000359979.4_Nonsense_Mutation_p.W466*	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	466					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.W466*(1)									ACTGATGAATGGATAGATATA	0.313																																																1	Substitution - Nonsense(1)	kidney(1)											71	80	77					10																	86132205		2203	4292	6495	SO:0001587	stop_gained	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1397G>A	10.37:g.86132205G>A	ENSP00000224756:p.Trp466*		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Nonsense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	G	37	6.003567	0.97189	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	.	.	.	5.18	5.18	0.71444	.	0.099916	0.45606	D	0.000359	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5344	16.189	0.81972	0.0:0.0:1.0:0.0	.	.	.	.	X	466	.	ENSP00000224756:W466X	W	+	2	0	FAM190B	86122185	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.241000	0.78201	2.411000	0.81874	0.655000	0.94253	TGG		0.313	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		A	86132205	G	A	86132205	4	1	521	1	0	0	0	0	0	1	0	0	5524	1357	47	2	1399	2	FAM190B	10	86132205	Nonsense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	21174929	86132205	49402542	28	27819											
CRTAC1	55118	broad.mit.edu	37	10	99655168	99655168	+	Silent	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr10:99655168G>A	ENST00000370597.3	-	11	1675	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	CRTAC1_ENST00000298819.4_Silent_p.G440G|CRTAC1_ENST00000370591.2_Silent_p.G440G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	440						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G440G(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TGTTGTTGAAGCCCTGCAGAG	0.637																																																1	Substitution - coding silent(1)	kidney(1)											49	47	47					10																	99655168		2203	4300	6503	SO:0001819	synonymous_variant	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1320C>T	10.37:g.99655168G>A			B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	CCDS31266.1																																																																																				0.637	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		A	99655168	G	A	99655168	2	1	521	1	0	0	0	0	0	0	0	1	3898	958	34	2		2	CRTAC1	10	99655168	Silent	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	13522963	99655168	35879579	29	27820											
HPS1	3257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	100177390	100177390	+	Silent	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr10:100177390G>A	ENST00000325103.6	-	20	2267	c.2034C>T	c.(2032-2034)gaC>gaT	p.D678D	PYROXD2_ENST00000370575.4_5'Flank|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.D678D	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	678					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.D678D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GCACCAGCAGGTCAGTGGGGA	0.667									Hermansky-Pudlak syndrome																																							1	Substitution - coding silent(1)	kidney(1)											50	47	48					10																	100177390		2203	4300	6503	SO:0001819	synonymous_variant	3257	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.2034C>T	10.37:g.100177390G>A			A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	CCDS7475.1																																																																																				0.667	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		A	100177390	G	A	100177390	2	1	521	1	0	0	0	0	0	0	0	1	7341	1252	44	2		2	HPS1	10	100177390	Silent	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	522222	100177390	35357357	30	27821											
GAL3ST3	89792	broad.mit.edu;hgsc.bcm.edu	37	11	65810470	65810470	+	Silent	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr11:65810470G>A	ENST00000312006.4	-	3	1085	c.804C>T	c.(802-804)aaC>aaT	p.N268N	GAL3ST3_ENST00000527878.1_Silent_p.N268N	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	268					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.N268N(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						CGGCGCGCGCGTTGAGCTTGG	0.711																																																1	Substitution - coding silent(1)	kidney(1)											15	15	15					11																	65810470		2196	4288	6484	SO:0001819	synonymous_variant	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.804C>T	11.37:g.65810470G>A			Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																				0.711	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		A	65810470	G	A	65810470	2	1	521	1	0	0	0	0	0	0	0	1	6201	1136	40	1		1	GAL3ST3	11	65810470	Silent	SNP	G	TCGA-CJ-4897-01A-03D-1429-08		65810470	69196046	31	27822											
PACS1	55690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65983684	65983684	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr11:65983684C>G	ENST00000320580.4	+	5	788	c.755C>G	c.(754-756)tCc>tGc	p.S252C		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	252					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.S252C(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AAGATCTACTCCCTGTCCAGC	0.512																																																1	Substitution - Missense(1)	kidney(1)											104	85	91					11																	65983684		2201	4295	6496	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.755C>G	11.37:g.65983684C>G	ENSP00000316454:p.Ser252Cys		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277420	0.80580	.	.	ENSG00000175115	ENST00000320580;ENST00000527380	T	0.28255	1.62	5.41	5.41	0.78517	.	0.099925	0.64402	D	0.000001	T	0.54498	0.1862	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.49844	-0.8896	10	0.49607	T	0.09	-24.6263	18.1384	0.89630	0.0:1.0:0.0:0.0	.	252;252	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	C	252;154	ENSP00000316454:S252C	ENSP00000316454:S252C	S	+	2	0	PACS1	65740260	1.000000	0.71417	0.993000	0.49108	0.801000	0.45260	7.392000	0.79840	2.826000	0.97356	0.561000	0.74099	TCC		0.512	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		G	65983684	C	G	65983684	3	3	521	1	0	0	0	0	1	0	0	0	11374	855	30	4	773	4	PACS1	11	65983684	Missense_Mutation	SNP	C	TCGA-CJ-4897-01A-03D-1429-08	173214	65983684	69022832	32	27823											
SPTBN2	6712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66472813	66472813	+	Missense_Mutation	SNP	C	C	T	rs536915281		TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr11:66472813C>T	ENST00000533211.1	-	15	2265	c.1934G>A	c.(1933-1935)cGt>cAt	p.R645H	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R645H|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R645H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	645					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.R645H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCAGAGGAAACGCCAGAGCCG	0.701																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1934G>A	11.37:g.66472813C>T	ENSP00000432568:p.Arg645His		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799931	0.31869	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.53423	0.62;0.62;0.62	4.45	2.59	0.31030	.	0.071765	0.64402	D	0.000018	T	0.40473	0.1118	N	0.22421	0.69	0.31801	N	0.6284	D	0.61080	0.989	P	0.53760	0.734	T	0.48246	-0.9052	10	0.54805	T	0.06	.	6.3502	0.21370	0.0:0.6198:0.0:0.3802	.	645	O15020	SPTN2_HUMAN	H	645	ENSP00000432568:R645H;ENSP00000311489:R645H;ENSP00000433593:R645H	ENSP00000311489:R645H	R	-	2	0	SPTBN2	66229389	0.190000	0.23276	0.989000	0.46669	0.645000	0.38454	0.914000	0.28624	0.515000	0.28320	-0.320000	0.08662	CGT		0.701	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		T	66472813	C	T	66472813	3	4	521	1	0	0	0	0	1	0	0	0	15125	536	19	1	5334	1	SPTBN2	11	66472813	Missense_Mutation	SNP	C	TCGA-CJ-4897-01A-03D-1429-08	489129	66472813	68533703	33	27824											
COPS7A	50813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6837091	6837091	+	Splice_Site	SNP	G	G	C			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr12:6837091G>C	ENST00000543155.1	+	3	644		c.e3-1		COPS7A_ENST00000538410.1_Splice_Site|COPS7A_ENST00000542150.1_Intron|COPS7A_ENST00000534947.1_Splice_Site|COPS7A_ENST00000229251.3_Splice_Site|COPS7A_ENST00000539735.1_Splice_Site|COPS7A_ENST00000534877.1_Splice_Site	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A						cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.?(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						CATTCTCGCAGCTGGCTGAGA	0.542																																																1	Unknown(1)	kidney(1)											143	113	123					12																	6837091		2203	4300	6503	SO:0001630	splice_region_variant	50813			AF193844	CCDS8558.1	12p13.31	2013-03-14	2013-03-14		ENSG00000111652	ENSG00000111652			16758	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A", "COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)"				Standard	NM_001164093		Approved	CSN7A	uc001qqh.3	Q9UBW8	OTTHUMG00000169182	ENST00000543155.1:c.163-1G>C	12.37:g.6837091G>C			A8K9A6|Q9NVX3|Q9UJW4	Splice_Site	SNP	ENST00000543155.1	37	CCDS8558.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564422	0.65651	.	.	ENSG00000111652	ENST00000543155;ENST00000442593;ENST00000229251;ENST00000539735;ENST00000538410;ENST00000544725;ENST00000534947;ENST00000541866;ENST00000534877;ENST00000538753	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.148	0.72674	0.0:0.1409:0.8591:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COPS7A	6707352	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	5.359000	0.66074	2.735000	0.93741	0.655000	0.94253	.		0.542	COPS7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402740.1		Intron	C	6837091	G	C	6837091	5	2	521	1	0	0	0	0	0	0	1	0	3740	985	34	4	168	4	COPS7A	12	6837091	Splice_Site	SNP	G	TCGA-CJ-4897-01A-03D-1429-08		6837091	127014804	34	27825											
ALG10B	144245	broad.mit.edu;hgsc.bcm.edu	37	12	38714340	38714340	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr12:38714340G>T	ENST00000308742.4	+	3	1063	c.747G>T	c.(745-747)atG>atT	p.M249I	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	249					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.M249I(2)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ACTTGAGTATGCTTTTCTGTT	0.378																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)											258	255	256					12																	38714340		2203	4300	6503	SO:0001583	missense	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.747G>T	12.37:g.38714340G>T	ENSP00000310120:p.Met249Ile		B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.712688	0.00712	.	.	ENSG00000175548	ENST00000308742	T	0.54479	0.57	3.23	3.23	0.37069	.	0.484707	0.25402	N	0.030926	T	0.32882	0.0844	N	0.12182	0.205	0.25973	N	0.982473	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	10	0.33141	T	0.24	.	12.7261	0.57173	0.0:0.0:1.0:0.0	.	249	Q5I7T1	AG10B_HUMAN	I	249	ENSP00000310120:M249I	ENSP00000310120:M249I	M	+	3	0	ALG10B	37000607	0.003000	0.15002	0.100000	0.21137	0.020000	0.10135	-0.108000	0.10857	2.103000	0.63969	0.643000	0.83706	ATG		0.378	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		T	38714340	G	T	38714340	3	4	521	1	0	0	0	0	1	0	0	0	512	1319	46	4	757	4	ALG10B	12	38714340	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	31877249	38714340	95137555	35	27826											
CEP290	80184	broad.mit.edu	37	12	88483261	88483261	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr12:88483261G>C	ENST00000552810.1	-	31	3920	c.3577C>G	c.(3577-3579)Cag>Gag	p.Q1193E	CEP290_ENST00000547691.2_Missense_Mutation_p.Q253E|CEP290_ENST00000309041.7_Missense_Mutation_p.Q1195E|CEP290_ENST00000397838.3_Missense_Mutation_p.Q253E	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1193					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.Q1195E(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCATCAGACTGTGCCTGatat	0.328																																																1	Substitution - Missense(1)	kidney(1)											21	19	20					12																	88483261		1846	4065	5911	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3577C>G	12.37:g.88483261G>C	ENSP00000448012:p.Gln1193Glu		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017735	0.35606	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.64803	0.48;-0.12;-0.12;0.48	5.62	5.62	0.85841	.	0.107337	0.64402	D	0.000004	T	0.47021	0.1423	L	0.28556	0.865	0.40165	D	0.9771	P	0.36712	0.566	B	0.31946	0.138	T	0.51084	-0.8750	10	0.02654	T	1	.	19.6664	0.95894	0.0:0.0:1.0:0.0	.	1193	O15078	CE290_HUMAN	E	253;1193;1195;253	ENSP00000446905:Q253E;ENSP00000448012:Q1193E;ENSP00000308021:Q1195E;ENSP00000380938:Q253E	ENSP00000308021:Q1195E	Q	-	1	0	CEP290	87007392	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.322000	0.72886	2.646000	0.89796	0.585000	0.79938	CAG		0.328	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		C	88483261	G	C	88483261	3	2	521	1	0	0	0	0	1	0	0	0	3255	1386	48	4	3958	4	CEP290	12	88483261	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	49768921	88483261	45368634	36	27827											
NBEA	26960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	35747666	35747668	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr13:35747666_35747668delTCT	ENST00000400445.3	+	27	5023_5025	c.4489_4491delTCT	c.(4489-4491)tctdel	p.S1498del	NBEA_ENST00000310336.4_In_Frame_Del_p.S1498del|NBEA_ENST00000379939.2_In_Frame_Del_p.S1495del|NBEA_ENST00000540320.1_In_Frame_Del_p.S1498del	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1498					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGGAAATAAATCTTCCCATGGAA	0.35																																																0																																										SO:0001651	inframe_deletion	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4489_4491delTCT	13.37:g.35747666_35747668delTCT	ENSP00000383295:p.Ser1498del		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	In_Frame_Del	DEL	ENST00000400445.3	37	CCDS45026.1																																																																																				0.35	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		-	35747668	TCT	-	35747666	7	5	521	1	0	1	0	1	0	0	0	0	10189	1435	50	0	4595	0	NBEA	13	35747666	In_Frame_Del	DEL	TCT	TCGA-CJ-4897-01A-03D-1429-08		35747666	79422212	37	27828											
KIAA1704	55425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	45578485	45578485	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr13:45578485A>C	ENST00000379151.4	+	2	237	c.134A>C	c.(133-135)gAt>gCt	p.D45A	RN7SL49P_ENST00000581392.1_RNA|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_Missense_Mutation_p.D45A|GPALPP1_ENST00000357537.3_5'Flank	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	45	Poly-Ser.							p.D45A(1)									AGTAGTTCAGATTCATCAGAC	0.408																																																1	Substitution - Missense(1)	kidney(1)											113	110	111					13																	45578485		2203	4300	6503	SO:0001583	missense	55425			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"KIAA1704"	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.134A>C	13.37:g.45578485A>C	ENSP00000368447:p.Asp45Ala		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.221607	0.39300	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	.	.	.	5.61	4.44	0.53790	.	0.732918	0.13551	N	0.379483	T	0.43144	0.1234	L	0.52573	1.65	0.31686	N	0.642495	B	0.13145	0.007	B	0.17979	0.02	T	0.44997	-0.9291	9	0.09843	T	0.71	1.7153	8.9445	0.35751	0.9157:0.0:0.0843:0.0	.	45	Q8IXQ4	K1704_HUMAN	A	45	.	ENSP00000355211:D45A	D	+	2	0	KIAA1704	44476485	0.996000	0.38824	0.703000	0.30354	0.833000	0.47200	3.357000	0.52277	0.967000	0.38186	0.477000	0.44152	GAT		0.408	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		C	45578485	A	C	45578485	3	2	521	1	0	0	0	0	1	0	0	0	8254	333	12	5	140	5	KIAA1704	13	45578485	Missense_Mutation	SNP	A	TCGA-CJ-4897-01A-03D-1429-08	9830819	45578485	69591393	38	27829											
INTS6	26512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	51948840	51948840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr13:51948840G>A	ENST00000311234.4	-	14	2294	c.1822C>T	c.(1822-1824)Cag>Tag	p.Q608*	INTS6_ENST00000463928.1_Intron|INTS6_ENST00000398119.2_Nonsense_Mutation_p.Q595*|INTS6_ENST00000497989.1_Nonsense_Mutation_p.Q430*|INTS6_ENST00000490542.1_Nonsense_Mutation_p.Q292*|INTS6_ENST00000425000.1_Nonsense_Mutation_p.Q176*	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	608					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.Q608*(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CTTCGTGGCTGATCAGGATCA	0.398																																																1	Substitution - Nonsense(1)	kidney(1)											123	103	110					13																	51948840		2203	4300	6503	SO:0001587	stop_gained	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1822C>T	13.37:g.51948840G>A	ENSP00000310260:p.Gln608*		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Nonsense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	G	51	17.389210	0.99885	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-7.1073	17.7319	0.88380	0.0:0.0:1.0:0.0	.	.	.	.	X	608;595;430;176;292	.	ENSP00000310260:Q608X	Q	-	1	0	INTS6	50846841	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.734000	0.98822	2.503000	0.84419	0.467000	0.42956	CAG		0.398	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		A	51948840	G	A	51948840	4	1	521	1	0	0	0	0	0	1	0	0	7784	1299	45	2	861	2	INTS6	13	51948840	Nonsense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	6370355	51948840	63221038	39	27830											
WDR89	112840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64066630	64066630	+	Silent	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr14:64066630G>A	ENST00000394942.2	-	2	119	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	WDR89_ENST00000267522.3_Silent_p.L11L|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	11								p.L11L(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		ACAATGTGCAGATTAGCAAAT	0.348																																																1	Substitution - coding silent(1)	kidney(1)											63	64	63					14																	64066630		2203	4300	6503	SO:0001819	synonymous_variant	112840			AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"WD repeat domain containing"	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.31C>T	14.37:g.64066630G>A				Silent	SNP	ENST00000394942.2	37	CCDS9759.1																																																																																				0.348	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		A	64066630	G	A	64066630	2	1	521	1	0	0	0	0	0	0	0	1	17341	933	33	2		2	WDR89	14	64066630	Silent	SNP	G	TCGA-CJ-4897-01A-03D-1429-08		64066630	43282910	40	27831											
SETD3	84193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	99932086	99932086	+	Silent	SNP	A	A	G			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr14:99932086A>G	ENST00000331768.5	-	2	216	c.57T>C	c.(55-57)acT>acC	p.T19T	SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000329331.3_Silent_p.T19T|SETD3_ENST00000436070.2_Silent_p.T19T	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	19					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.T19T(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TTGGTGACACAGTTGCTGTAG	0.448																																																2	Substitution - coding silent(2)	kidney(1)|endometrium(1)											189	172	178					14																	99932086		2203	4300	6503	SO:0001819	synonymous_variant	84193			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.57T>C	14.37:g.99932086A>G			A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Silent	SNP	ENST00000331768.5	37	CCDS9951.1																																																																																				0.448	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		G	99932086	A	G	99932086	2	3	521	1	0	0	0	0	0	0	0	1	14138	175	7	3		3	SETD3	14	99932086	Silent	SNP	A	TCGA-CJ-4897-01A-03D-1429-08	35865456	99932086	7417454	41	27832											
AQR	9716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	35176806	35176806	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr15:35176806T>C	ENST00000156471.5	-	26	3172	c.2947A>G	c.(2947-2949)Aaa>Gaa	p.K983E		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	983					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K983E(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GATCTTCCTTTAAAAATGGGT	0.368																																																1	Substitution - Missense(1)	kidney(1)											98	94	96					15																	35176806		1828	4080	5908	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2947A>G	15.37:g.35176806T>C	ENSP00000156471:p.Lys983Glu		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.510809	0.44660	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93366	-3.21	5.8	4.62	0.57501	.	0.139477	0.64402	D	0.000006	D	0.89825	0.6827	L	0.48260	1.515	0.36318	D	0.858078	P	0.35575	0.51	B	0.40982	0.345	D	0.87423	0.2383	10	0.05959	T	0.93	-30.6696	12.6746	0.56887	0.0:0.0:0.1376:0.8624	.	983	O60306	AQR_HUMAN	E	983	ENSP00000156471:K983E	ENSP00000156471:K983E	K	-	1	0	AQR	32964098	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.916000	0.63362	2.213000	0.71641	0.528000	0.53228	AAA		0.368	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		C	35176806	T	C	35176806	3	2	521	1	0	0	0	0	1	0	0	0	835	1763	61	3	1550	3	AQR	15	35176806	Missense_Mutation	SNP	T	TCGA-CJ-4897-01A-03D-1429-08		35176806	67354586	42	27833											
TTBK2	146057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43109262	43109262	+	Missense_Mutation	SNP	G	G	C	rs563297091		TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr15:43109262G>C	ENST00000267890.6	-	7	679	c.571C>G	c.(571-573)Cgt>Ggt	p.R191G	TTBK2_ENST00000567274.1_Missense_Mutation_p.R156G|TTBK2_ENST00000567840.1_Missense_Mutation_p.R191G	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R191G(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GATGCATAACGAACTGTCCCT	0.403																																																1	Substitution - Missense(1)	kidney(1)											74	69	71					15																	43109262		1969	4144	6113	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.571C>G	15.37:g.43109262G>C	ENSP00000267890:p.Arg191Gly		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973774	0.92919	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.66280	-0.2	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;0.97;0.977	D;D;P;D	0.97110	1.0;0.918;0.779;0.934	T	0.79396	-0.1821	10	0.87932	D	0	.	15.3675	0.74535	0.0:0.0:0.8606:0.1394	.	171;122;191;191	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	G	191;121;171	ENSP00000267890:R191G	ENSP00000263802:R171G	R	-	1	0	TTBK2	40896554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.568000	0.82369	2.880000	0.98712	0.650000	0.86243	CGT		0.403	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		C	43109262	G	C	43109262	3	2	521	1	0	0	0	0	1	0	0	0	16682	1058	37	4	3199	4	TTBK2	15	43109262	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	7932456	43109262	59422130	43	27834											
SECISBP2L	9728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49320719	49320719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr15:49320719G>T	ENST00000559471.1	-	5	1088	c.825C>A	c.(823-825)tgC>tgA	p.C275*	SECISBP2L_ENST00000261847.3_Nonsense_Mutation_p.C275*	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	275							poly(A) RNA binding (GO:0044822)	p.C275*(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GTTTGGGACTGCAGTAACCAC	0.493																																																1	Substitution - Nonsense(1)	kidney(1)											147	121	130					15																	49320719		2197	4295	6492	SO:0001587	stop_gained	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.825C>A	15.37:g.49320719G>T	ENSP00000453854:p.Cys275*		Q8N767	Nonsense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	37	6.388183	0.97529	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	.	.	.	5.78	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	9.2897	0.37780	0.2293:0.0:0.7707:0.0	.	.	.	.	X	275	.	ENSP00000261847:C275X	C	-	3	2	SECISBP2L	47108011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.743000	0.38258	1.423000	0.47198	0.655000	0.94253	TGC		0.493	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		T	49320719	G	T	49320719	4	4	521	1	0	0	0	0	0	1	0	0	14013	1311	46	4	2397	4	SECISBP2L	15	49320719	Nonsense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	6211457	49320719	53210673	44	27835											
NEDD4	4734	broad.mit.edu;ucsc.edu	37	15	56140568	56140568	+	Splice_Site	DEL	A	A	-			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr15:56140568delA	ENST00000508342.1	-	13	3099		c.e13+1		NEDD4_ENST00000338963.2_Splice_Site|NEDD4_ENST00000506154.1_Splice_Site|NEDD4_ENST00000435532.3_Splice_Site	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase						adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGAGAGACTTACTGGTCCAGT	0.453																																																0													223	190	201					15																	56140568		2193	4292	6485	SO:0001630	splice_region_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2799+1T>-	15.37:g.56140568delA			A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Splice_Site	DEL	ENST00000508342.1	37																																																																																					0.453	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	Intron	-	56140568	A	-	56140568	8	5	521	1	0	1	0	1	0	0	1	0	10312	405	14	0	1210	0	NEDD4	15	56140568	Splice_Site	DEL	A	TCGA-CJ-4897-01A-03D-1429-08	6819849	56140568	46390824	45	27836											
HERC1	8925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63948032	63948032	+	Silent	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr15:63948032G>A	ENST00000443617.2	-	50	10080	c.9993C>T	c.(9991-9993)aaC>aaT	p.N3331N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3331					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.N3331N(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTACAACAAAGTTTGGGGAGG	0.428																																																2	Substitution - coding silent(2)	kidney(2)											61	55	57					15																	63948032		1849	4096	5945	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9993C>T	15.37:g.63948032G>A			Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.428	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		A	63948032	G	A	63948032	2	1	521	1	0	0	0	0	0	0	0	1	7059	1020	36	2		2	HERC1	15	63948032	Silent	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	7807464	63948032	38583360	46	27837											
SMAD3	4088	hgsc.bcm.edu;ucsc.edu	37	15	67477111	67477111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr15:67477111delG	ENST00000327367.4	+	7	1228	c.918delG	c.(916-918)gagfs	p.E306fs	SMAD3_ENST00000439724.3_Frame_Shift_Del_p.E262fs|SMAD3_ENST00000540846.2_Frame_Shift_Del_p.E201fs|SMAD3_ENST00000537194.2_Frame_Shift_Del_p.E111fs	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	306	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.|Sufficient for interaction with XPO4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TCTTCGCAGAGTGCCTCAGTG	0.567																																																0													161	134	143					15																	67477111		2201	4299	6500	SO:0001589	frameshift_variant	4088			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.918delG	15.37:g.67477111delG	ENSP00000332973:p.Glu306fs		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Frame_Shift_Del	DEL	ENST00000327367.4	37	CCDS10222.1																																																																																				0.567	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		-	67477111	G	-	67477111	7	5	521	1	0	1	0	1	0	0	0	0	14765	1020	36	0	1022	0	SMAD3	15	67477111	Frame_Shift_Del	DEL	G	TCGA-CJ-4897-01A-03D-1429-08	3529079	67477111	35054281	47	27838											
NOX5	79400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	69328249	69328249	+	Silent	SNP	C	C	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr15:69328249C>T	ENST00000388866.3	+	7	1202	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	NOX5_ENST00000455873.3_Silent_p.S352S|NOX5_ENST00000448182.3_Silent_p.S341S|NOX5_ENST00000260364.5_Silent_p.S369S|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Silent_p.S359S	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	387	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.S369S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCTCCAGTTCCTGCATCCGCA	0.597																																																1	Substitution - coding silent(1)	kidney(1)											102	83	90					15																	69328249		2200	4298	6498	SO:0001819	synonymous_variant	79400			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1161C>T	15.37:g.69328249C>T			B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	CCDS32276.2																																																																																				0.597	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		T	69328249	C	T	69328249	2	4	521	1	0	0	0	0	0	0	0	1	10561	668	24	2		2	NOX5	15	69328249	Silent	SNP	C	TCGA-CJ-4897-01A-03D-1429-08	1851138	69328249	33203143	48	27839											
ZKSCAN2	342357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	25266607	25266607	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr16:25266607C>A	ENST00000328086.7	-	2	1309	c.506G>T	c.(505-507)cGg>cTg	p.R169L		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	169					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R169L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AGGTTCCTCCCGAGACACCGC	0.617																																																1	Substitution - Missense(1)	kidney(1)											83	74	77					16																	25266607		2197	4300	6497	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.506G>T	16.37:g.25266607C>A	ENSP00000331626:p.Arg169Leu		A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	4.154	0.026922	0.08054	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.14766	2.48	5.3	-10.6	0.00265	.	1.696110	0.02958	N	0.142643	T	0.04497	0.0123	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23726	-1.0180	10	0.26408	T	0.33	2.1776	2.892	0.05679	0.3591:0.1564:0.0655:0.419	.	169;169	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	L	169	ENSP00000331626:R169L	ENSP00000331626:R169L	R	-	2	0	ZKSCAN2	25174108	0.000000	0.05858	0.002000	0.10522	0.284000	0.27059	-2.598000	0.00894	-4.668000	0.00037	-1.184000	0.01707	CGG		0.617	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		A	25266607	C	A	25266607	3	1	521	1	0	0	0	0	1	0	0	0	17692	652	23	4	2421	4	ZKSCAN2	16	25266607	Missense_Mutation	SNP	C	TCGA-CJ-4897-01A-03D-1429-08		25266607	65088146	49	27840											
ZDHHC1	29800	broad.mit.edu;ucsc.edu	37	16	67429119	67429119	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr16:67429119G>T	ENST00000348579.2	-	10	1357	c.1016C>A	c.(1015-1017)tCt>tAt	p.S339Y	ZDHHC1_ENST00000566075.1_5'UTR|TPPP3_ENST00000290942.5_5'Flank|TPPP3_ENST00000393957.2_5'Flank|TPPP3_ENST00000562206.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	339					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S339Y(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GGCAGGGCGAGAGTGTCTGGG	0.657																																																1	Substitution - Missense(1)	kidney(1)											10	11	11					16																	67429119		2182	4273	6455	SO:0001583	missense	29800			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1016C>A	16.37:g.67429119G>T	ENSP00000340299:p.Ser339Tyr		O15461	Missense_Mutation	SNP	ENST00000348579.2	37	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720356	0.30503	.	.	ENSG00000159714	ENST00000348579	T	0.39056	1.1	3.78	0.546	0.17196	.	2.897380	0.02499	U	0.090268	T	0.33673	0.0871	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28839	-1.0031	10	0.44086	T	0.13	.	9.6229	0.39732	0.0:0.2008:0.662:0.1371	.	339	Q8WTX9	ZDHC1_HUMAN	Y	339	ENSP00000340299:S339Y	ENSP00000340299:S339Y	S	-	2	0	ZDHHC1	65986620	0.002000	0.14202	0.002000	0.10522	0.379000	0.30106	1.135000	0.31454	-0.183000	0.10585	-1.104000	0.02111	TCT		0.657	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		T	67429119	G	T	67429119	3	4	521	1	0	0	0	0	1	0	0	0	17605	942	33	4	449	4	ZDHHC1	16	67429119	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	42162512	67429119	22925634	50	27841											
ZFHX3	463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	72830806	72830806	+	Silent	SNP	A	A	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr16:72830806A>T	ENST00000268489.5	-	9	6447	c.5775T>A	c.(5773-5775)ggT>ggA	p.G1925G	ZFHX3_ENST00000397992.5_Silent_p.G1011G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1925					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G1925G(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTCAGAACCACCCCCTGGTG	0.587																																																1	Substitution - coding silent(1)	kidney(1)											85	87	86					16																	72830806		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5775T>A	16.37:g.72830806A>T			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.587	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72830806	A	T	72830806	2	4	521	1	0	0	0	0	0	0	0	1	17639	146	6	5		5	ZFHX3	16	72830806	Silent	SNP	A	TCGA-CJ-4897-01A-03D-1429-08	5401687	72830806	17523947	51	27842											
C17orf74	201243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7330515	7330515	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr17:7330515C>T	ENST00000333870.3	+	3	1279	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	402						integral component of membrane (GO:0016021)		p.A402V(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACTACCTCTGCCTCCCTCACG	0.672																																																1	Substitution - Missense(1)	kidney(1)											66	82	76					17																	7330515		2161	4262	6423	SO:0001583	missense	201243			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1205C>T	17.37:g.7330515C>T	ENSP00000328061:p.Ala402Val			Missense_Mutation	SNP	ENST00000333870.3	37	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	8.912	0.959058	0.18507	.	.	ENSG00000184560	ENST00000333870	T	0.32515	1.45	4.96	3.97	0.46021	.	0.715806	0.12029	N	0.506169	T	0.21307	0.0513	N	0.19112	0.55	0.23346	N	0.997867	B	0.33612	0.419	B	0.35413	0.202	T	0.10823	-1.0613	10	0.66056	D	0.02	-13.704	8.5751	0.33595	0.0:0.895:0.0:0.105	.	402	Q0P670	CQ074_HUMAN	V	402	ENSP00000328061:A402V	ENSP00000328061:A402V	A	+	2	0	C17orf74	7271239	0.101000	0.21875	0.909000	0.35828	0.011000	0.07611	1.304000	0.33482	2.454000	0.82982	0.491000	0.48974	GCC		0.672	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		T	7330515	C	T	7330515	3	4	521	1	0	0	0	0	1	0	0	0	1881	739	26	2	1215	2	C17orf74	17	7330515	Missense_Mutation	SNP	C	TCGA-CJ-4897-01A-03D-1429-08		7330515	73864695	52	27843											
C17orf68	80169	hgsc.bcm.edu;ucsc.edu	37	17	8141944	8141944	+	Frame_Shift_Del	DEL	G	G	-	rs552540195		TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr17:8141944delG	ENST00000315684.8	-	3	208	c.201delC	c.(199-201)ttcfs	p.F67fs	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	67					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GTACTGAGACGAAGCTGTAGA	0.572																																																0													65	65	65					17																	8141944		2025	4193	6218	SO:0001589	frameshift_variant	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.201delC	17.37:g.8141944delG	ENSP00000313759:p.Phe67fs		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Frame_Shift_Del	DEL	ENST00000315684.8	37	CCDS42259.1																																																																																				0.572	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		-	8141944	G	-	8141944	7	5	521	1	0	1	0	1	0	0	0	0	1878	1049	37	0	3536	0	C17orf68	17	8141944	Frame_Shift_Del	DEL	G	TCGA-CJ-4897-01A-03D-1429-08	811429	8141944	73053266	53	27844											
KRT24	192666	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38859817	38859817	+	Silent	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr17:38859817G>A	ENST00000264651.2	-	1	185	c.129C>T	c.(127-129)ttC>ttT	p.F43F		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	43	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)	p.F43F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTCCTCCTCGGAAGCCCTGGG	0.652																																					GBM(61;380 1051 14702 23642 31441)											1	Substitution - coding silent(1)	kidney(1)											37	42	40					17																	38859817		2203	4300	6503	SO:0001819	synonymous_variant	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.129C>T	17.37:g.38859817G>A			Q9NXG7	Silent	SNP	ENST00000264651.2	37	CCDS11372.1																																																																																				0.652	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		A	38859817	G	A	38859817	2	1	521	1	0	0	0	0	0	0	0	1	8463	1165	41	2		2	KRT24	17	38859817	Silent	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	30717873	38859817	42335393	54	27845											
DIRAS1	148252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2717570	2717570	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr19:2717570C>A	ENST00000323469.4	-	2	418	c.235G>T	c.(235-237)Ggc>Tgc	p.G79C	DIRAS1_ENST00000585334.1_Missense_Mutation_p.G79C	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	79					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G79C(1)		kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCGTGGCCCTTGGAGATG	0.622																																																1	Substitution - Missense(1)	kidney(1)											70	59	62					19																	2717570		2201	4299	6500	SO:0001583	missense	148252			BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.235G>T	19.37:g.2717570C>A	ENSP00000325836:p.Gly79Cys			Missense_Mutation	SNP	ENST00000323469.4	37	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462126	0.63513	.	.	ENSG00000176490	ENST00000323469	T	0.69561	-0.41	4.07	4.07	0.47477	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78841	-0.2045	10	0.87932	D	0	.	13.7485	0.62890	0.0:1.0:0.0:0.0	.	79	O95057	DIRA1_HUMAN	C	79	ENSP00000325836:G79C	ENSP00000325836:G79C	G	-	1	0	DIRAS1	2668570	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	7.539000	0.82063	1.813000	0.52934	0.549000	0.68633	GGC		0.622	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			A	2717570	C	A	2717570	3	1	521	1	0	0	0	0	1	0	0	0	4532	623	22	4	365	4	DIRAS1	19	2717570	Missense_Mutation	SNP	C	TCGA-CJ-4897-01A-03D-1429-08		2717570	56411413	55	27846											
PRAM1	84106	broad.mit.edu;ucsc.edu	37	19	8564274	8564274	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr19:8564274G>C	ENST00000423345.4	-	2	938	c.418C>G	c.(418-420)Cca>Gca	p.P140A	PRAM1_ENST00000255612.3_Missense_Mutation_p.P140A			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	188	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)	p.P140A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGCTTCCTTGGAAACGGAGTG	0.662																																																1	Substitution - Missense(1)	kidney(1)											29	33	32					19																	8564274		1814	3874	5688	SO:0001583	missense	84106			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.418C>G	19.37:g.8564274G>C	ENSP00000408342:p.Pro140Ala		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	9.202	1.028609	0.19512	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.17691	2.26;2.26	3.97	0.224	0.15297	.	0.000000	0.41712	D	0.000836	T	0.11410	0.0278	N	0.19112	0.55	0.09310	N	1	B;B	0.24043	0.069;0.096	B;B	0.27887	0.084;0.043	T	0.25779	-1.0122	10	0.48119	T	0.1	.	12.7654	0.57388	0.0:0.4809:0.5191:0.0	.	140;188	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	A	140	ENSP00000255612:P140A;ENSP00000408342:P140A	ENSP00000255612:P140A	P	-	1	0	PRAM1	8470274	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.500000	0.22562	0.043000	0.15746	-0.226000	0.12346	CCA		0.662	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		C	8564274	G	C	8564274	3	2	521	1	0	0	0	0	1	0	0	0	12428	1174	41	4	1627	4	PRAM1	19	8564274	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	5846704	8564274	50564709	56	27847											
PLEKHG2	64857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39913384	39913384	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr19:39913384G>A	ENST00000409794.3	+	18	2540	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D505N|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.D535N	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	564					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D522N(1)|p.D564N(1)|p.D505N(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCCACCCATGACATTCCCAA	0.582																																																3	Substitution - Missense(3)	kidney(3)											75	59	65					19																	39913384		2203	4300	6503	SO:0001583	missense	64857			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1690G>A	19.37:g.39913384G>A	ENSP00000386733:p.Asp564Asn		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.03|14.03	2.412726|2.412726	0.42817|0.42817	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508|ENST00000205135	T;T;T|.	0.74315|.	-0.68;-0.74;-0.83|.	5.13|5.13	4.09|4.09	0.47781|0.47781	.|.	0.291643|.	0.24771|.	N|.	0.035735|.	T|T	0.36166|0.36166	0.0957|0.0957	L|L	0.34521|0.34521	1.04|1.04	0.28365|0.28365	N|N	0.920287|0.920287	D;D;D|.	0.89917|.	1.0;0.993;1.0|.	D;D;D|.	0.87578|.	0.998;0.984;0.994|.	T|T	0.22138|0.22138	-1.0225|-1.0225	10|5	0.66056|.	D|.	0.02|.	.|.	9.8313|9.8313	0.40944|0.40944	0.0961:0.0:0.9039:0.0|0.0961:0.0:0.9039:0.0	.|.	535;564;505|.	Q9H7P9-3;Q9H7P9;E7ESZ3|.	.;PKHG2_HUMAN;.|.	N|I	564;535;505|431	ENSP00000386733:D564N;ENSP00000392906:D535N;ENSP00000408857:D505N|.	ENSP00000386733:D564N|.	D|M	+|+	1|3	0|0	PLEKHG2|PLEKHG2	44605224|44605224	0.616000|0.616000	0.27035|0.27035	0.008000|0.008000	0.14137|0.14137	0.075000|0.075000	0.17131|0.17131	1.960000|1.960000	0.40422|0.40422	1.278000|1.278000	0.44430|0.44430	0.591000|0.591000	0.81541|0.81541	GAC|ATG		0.582	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		A	39913384	G	A	39913384	3	1	521	1	0	0	0	0	1	0	0	0	12071	1290	45	2	1756	2	PLEKHG2	19	39913384	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	31349110	39913384	19215599	57	27848											
PPP5C	5536	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46890487	46890487	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr19:46890487G>C	ENST00000012443.4	+	8	1145	c.1042G>C	c.(1042-1044)Gtg>Ctg	p.V348L	PPP5C_ENST00000391919.1_Missense_Mutation_p.V220L	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	348	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)	p.V348L(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CAACGGCAAAGTGCTGGTGAG	0.617																																																1	Substitution - Missense(1)	kidney(1)											101	74	83					19																	46890487		2203	4300	6503	SO:0001583	missense	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1042G>C	19.37:g.46890487G>C	ENSP00000012443:p.Val348Leu		Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173234	0.94807	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	D;D	0.85484	-1.99;-1.99	4.85	4.85	0.62838	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.91686	0.7372	M	0.86502	2.82	0.80722	D	1	D;P;D	0.59767	0.986;0.899;0.957	P;P;P	0.58210	0.835;0.548;0.769	D	0.92958	0.6386	10	0.59425	D	0.04	-20.7828	15.4887	0.75587	0.0:0.0:1.0:0.0	.	206;348;348	B7Z1I1;B2R6R6;P53041	.;.;PPP5_HUMAN	L	348;335;220	ENSP00000012443:V348L;ENSP00000375786:V220L	ENSP00000012443:V348L	V	+	1	0	PPP5C	51582327	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.278000	0.95766	2.230000	0.72887	0.655000	0.94253	GTG		0.617	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		C	46890487	G	C	46890487	3	2	521	1	0	0	0	0	1	0	0	0	12411	1029	36	4	1072	4	PPP5C	19	46890487	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	6977103	46890487	12238496	58	27849											
NTN5	126147	broad.mit.edu;hgsc.bcm.edu	37	19	49173943	49173943	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr19:49173943G>A	ENST00000270235.4	-	2	396	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	101						extracellular region (GO:0005576)		p.P101S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						AGCCTCCAGGGACCCCCTGAG	0.677																																																1	Substitution - Missense(1)	kidney(1)											10	13	12					19																	49173943		2183	4282	6465	SO:0001583	missense	126147				CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.301C>T	19.37:g.49173943G>A	ENSP00000270235:p.Pro101Ser		Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901428	0.33535	.	.	ENSG00000142233	ENST00000270235	T	0.23147	1.92	4.94	1.38	0.22167	.	0.351548	0.28809	N	0.014065	T	0.25717	0.0626	N	0.22421	0.69	0.23555	N	0.997423	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.17018	-1.0383	10	0.08179	T	0.78	.	6.4014	0.21640	0.1765:0.1515:0.672:0.0	.	101;101	Q8WTR8-2;Q8WTR8	.;NET5_HUMAN	S	101	ENSP00000270235:P101S	ENSP00000270235:P101S	P	-	1	0	NTN5	53865755	1.000000	0.71417	0.618000	0.29105	0.925000	0.55904	3.108000	0.50337	0.616000	0.30141	0.455000	0.32223	CCC		0.677	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		A	49173943	G	A	49173943	3	1	521	1	0	0	0	0	1	0	0	0	10705	1174	41	2	1192	2	NTN5	19	49173943	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	2283456	49173943	9955040	59	27850											
ZNF583	147949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56934784	56934784	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr19:56934784G>A	ENST00000333201.9	+	5	967	c.757G>A	c.(757-759)Gca>Aca	p.A253T	ZNF583_ENST00000291598.7_Missense_Mutation_p.A253T|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A253T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAGCCAGAGTGCAAACTTGGC	0.443																																																1	Substitution - Missense(1)	kidney(1)											53	54	53					19																	56934784		2203	4298	6501	SO:0001583	missense	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.757G>A	19.37:g.56934784G>A	ENSP00000388502:p.Ala253Thr		O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390135	0.42410	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.01043	5.41;5.41	4.43	-5.92	0.02261	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000461	T	0.00637	0.0021	N	0.13235	0.315	0.09310	N	1	B	0.32653	0.379	B	0.33042	0.157	T	0.50381	-0.8835	9	.	.	.	.	7.3783	0.26841	0.1892:0.0:0.1547:0.6561	.	253	Q96ND8	ZN583_HUMAN	T	253	ENSP00000291598:A253T;ENSP00000388502:A253T	.	A	+	1	0	ZNF583	61626596	0.000000	0.05858	0.000000	0.03702	0.963000	0.63663	-2.892000	0.00709	-0.649000	0.05430	0.462000	0.41574	GCA		0.443	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		A	56934784	G	A	56934784	3	1	521	1	0	0	0	0	1	0	0	0	18020	1319	46	2	771	2	ZNF583	19	56934784	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	7760841	56934784	2194199	60	27851											
SIRPB2	284759	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	1460670	1460670	+	Silent	SNP	T	T	C			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr20:1460670T>C	ENST00000359801.3	-	2	162	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SIRPB2_ENST00000444444.2_Silent_p.L42L|SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000608747.1_5'UTR	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	35	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L141L(1)|p.L42L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTCGGGCTGTAGCACCTGCC	0.542																																																2	Substitution - coding silent(2)	kidney(2)											38	38	38					20																	1460670		1568	3582	5150	SO:0001819	synonymous_variant	284759			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.126A>G	20.37:g.1460670T>C			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000359801.3	37	CCDS42849.1																																																																																				0.542	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		C	1460670	T	C	1460670	2	2	521	1	0	0	0	0	0	0	0	1	14340	1625	57	3		3	SIRPB2	20	1460670	Silent	SNP	T	TCGA-CJ-4897-01A-03D-1429-08		1460670	61564850	61	27852											
TOX2	84969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	42574588	42574588	+	Silent	SNP	G	G	A			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr20:42574588G>A	ENST00000358131.5	+	1	244	c.36G>A	c.(34-36)gcG>gcA	p.A12A	TOX2_ENST00000341197.4_Intron|TOX2_ENST00000372999.1_Intron|TOX2_ENST00000423191.2_Intron	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	12					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A12A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCGCGGGCGCGTTCTCTCGCT	0.527																																																1	Substitution - coding silent(1)	kidney(1)											48	49	49					20																	42574588		1981	4154	6135	SO:0001819	synonymous_variant	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.36G>A	20.37:g.42574588G>A			A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	CCDS42875.1																																																																																				0.527	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			A	42574588	G	A	42574588	2	1	521	1	0	0	0	0	0	0	0	1	16383	1132	40	1		1	TOX2	20	42574588	Silent	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	41113918	42574588	20450932	62	27853											
ZNF831	128611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	57769082	57769082	+	Missense_Mutation	SNP	G	G	A	rs538061169		TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr20:57769082G>A	ENST00000371030.2	+	1	3008	c.3008G>A	c.(3007-3009)aGc>aAc	p.S1003N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1003							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S1003N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAGGCGGACAGCATCCTGGAG	0.642													.|||	1	0.000199681	0.0	0.0	5008	,	,		15459	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											36	38	37					20																	57769082		1954	4140	6094	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3008G>A	20.37:g.57769082G>A	ENSP00000360069:p.Ser1003Asn		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183824	0.38609	.	.	ENSG00000124203	ENST00000371030	T	0.06449	3.3	4.42	-0.223	0.13118	.	1.100580	0.06852	N	0.797555	T	0.05181	0.0138	L	0.32530	0.975	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.42982	-0.9419	10	0.46703	T	0.11	-1.8522	4.2105	0.10509	0.2914:0.33:0.3786:0.0	.	1003	Q5JPB2	ZN831_HUMAN	N	1003	ENSP00000360069:S1003N	ENSP00000360069:S1003N	S	+	2	0	ZNF831	57202477	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	0.877000	0.28106	0.091000	0.17302	0.313000	0.20887	AGC		0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57769082	G	A	57769082	3	1	521	1	0	0	0	0	1	0	0	0	18190	971	34	2	3010	2	ZNF831	20	57769082	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	15194494	57769082	5256438	63	27854											
KRTAP13-4	284827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	31802847	31802847	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr21:31802847T>G	ENST00000334068.2	+	1	276	c.254T>G	c.(253-255)cTa>cGa	p.L85R		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	85	4 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.L85R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TCTGGATCTCTAGGCTTTCGG	0.577																																					NSCLC(196;2401 3038 18004 35753)											1	Substitution - Missense(1)	kidney(1)											83	73	77					21																	31802847		2203	4300	6503	SO:0001583	missense	284827			AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"Keratin associated proteins"	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.254T>G	21.37:g.31802847T>G	ENSP00000334834:p.Leu85Arg		A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	14.57	2.573753	0.45902	.	.	ENSG00000186971	ENST00000334068	T	0.03717	3.83	4.91	2.51	0.30379	.	1.647800	0.04183	N	0.326869	T	0.08980	0.0222	M	0.78344	2.41	0.09310	N	1	P	0.39157	0.662	B	0.42112	0.376	T	0.31779	-0.9931	10	0.49607	T	0.09	.	4.3345	0.11080	0.0:0.1025:0.2063:0.6913	.	85	Q3LI77	KR134_HUMAN	R	85	ENSP00000334834:L85R	ENSP00000334834:L85R	L	+	2	0	KRTAP13-4	30724718	0.001000	0.12720	0.123000	0.21794	0.060000	0.15804	0.640000	0.24705	0.921000	0.36994	0.524000	0.50904	CTA		0.577	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			G	31802847	T	G	31802847	3	3	521	1	0	0	0	0	1	0	0	0	8527	1522	53	5	256	5	KRTAP13-4	21	31802847	Missense_Mutation	SNP	T	TCGA-CJ-4897-01A-03D-1429-08		31802847	16327048	64	27855											
TRIOBP	11078	hgsc.bcm.edu;ucsc.edu	37	22	38134696	38134696	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chr22:38134696delC	ENST00000406386.3	+	10	5409	c.5154delC	c.(5152-5154)gacfs	p.D1718fs		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1718					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGGCCAAGACCCCCTGACTG	0.542																																																0													52	53	52					22																	38134696		2032	4190	6222	SO:0001589	frameshift_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5154delC	22.37:g.38134696delC	ENSP00000384312:p.Asp1718fs		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Frame_Shift_Del	DEL	ENST00000406386.3	37	CCDS43015.1																																																																																				0.542	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			-	38134696	C	-	38134696	7	5	521	1	0	1	0	1	0	0	0	0	16558	506	18	0	5184	0	TRIOBP	22	38134696	Frame_Shift_Del	DEL	C	TCGA-CJ-4897-01A-03D-1429-08		38134696	13169870	65	27856											
RAI2	10742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	17819213	17819213	+	Silent	SNP	C	C	T	rs565435195		TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chrX:17819213C>T	ENST00000545871.1	-	3	1378	c.918G>A	c.(916-918)acG>acA	p.T306T	RAI2_ENST00000331511.1_Silent_p.T306T|RAI2_ENST00000451717.1_Silent_p.T306T|RAI2_ENST00000360011.1_Silent_p.T306T|RAI2_ENST00000415486.3_Silent_p.T256T	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	306					embryo development (GO:0009790)			p.T306T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TCTTAATGACCGTGTGGCGGC	0.542													c|||	5	0.0013245	0.0	0.0	3775	,	,		13714	0.0		0.0	False		,,,				2504	0.0051															1	Substitution - coding silent(1)	kidney(1)											108	111	110					X																	17819213		2203	4300	6503	SO:0001819	synonymous_variant	10742			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.918G>A	X.37:g.17819213C>T			B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Silent	SNP	ENST00000545871.1	37	CCDS14183.1																																																																																				0.542	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		T	17819213	C	T	17819213	2	4	521	1	0	0	0	0	0	0	0	1	13015	639	23	1		1	RAI2	23	17819213	Silent	SNP	C	TCGA-CJ-4897-01A-03D-1429-08		17819213	137451347	66	27857											
GSPT2	23708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	51487802	51487802	+	Silent	SNP	C	C	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chrX:51487802C>T	ENST00000340438.4	+	1	1322	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	360	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.I360I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATTGGAGCATCGAGAGATATG	0.393																																																1	Substitution - coding silent(1)	kidney(1)											66	61	63					X																	51487802		2203	4300	6503	SO:0001819	synonymous_variant	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1080C>T	X.37:g.51487802C>T			Q9H909|Q9NVY0|Q9NY44	Silent	SNP	ENST00000340438.4	37	CCDS14336.1																																																																																				0.393	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			T	51487802	C	T	51487802	2	4	521	1	0	0	0	0	0	0	0	1	6829	874	31	1		1	GSPT2	23	51487802	Silent	SNP	C	TCGA-CJ-4897-01A-03D-1429-08	33668589	51487802	103782758	67	27858											
HUWE1	10075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53675215	53675215	+	Silent	SNP	A	A	C			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chrX:53675215A>C	ENST00000342160.3	-	4	541	c.84T>G	c.(82-84)gtT>gtG	p.V28V	HUWE1_ENST00000262854.6_Silent_p.V28V|HUWE1_ENST00000218328.8_Silent_p.V28V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	28					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.V28V(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATCATTACAAACTTTGAGTT	0.398																																																2	Substitution - coding silent(2)	kidney(2)											125	98	107					X																	53675215		2203	4300	6503	SO:0001819	synonymous_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.84T>G	X.37:g.53675215A>C			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1																																																																																				0.398	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		C	53675215	A	C	53675215	2	2	521	1	0	0	0	0	0	0	0	1	7463	1	1	5		5	HUWE1	23	53675215	Silent	SNP	A	TCGA-CJ-4897-01A-03D-1429-08	2187413	53675215	101595345	68	27859											
GUCY2F	2986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	108708503	108708503	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chrX:108708503G>T	ENST00000218006.2	-	3	1191	c.900C>A	c.(898-900)aaC>aaA	p.N300K		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	300					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.N300K(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCTTTGGGTTGTTCCTTAGGA	0.478																																																1	Substitution - Missense(1)	kidney(1)											142	120	128					X																	108708503		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.900C>A	X.37:g.108708503G>T	ENSP00000218006:p.Asn300Lys		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762083	0.31228	.	.	ENSG00000101890	ENST00000218006	D	0.83075	-1.68	3.94	-0.17	0.13335	Extracellular ligand-binding receptor (1);	0.276779	0.38897	N	0.001523	T	0.70430	0.3223	L	0.46157	1.445	0.36070	D	0.842083	B	0.24186	0.099	B	0.28011	0.085	T	0.55147	-0.8186	10	0.26408	T	0.33	.	1.4628	0.02399	0.2247:0.1726:0.4429:0.1598	.	300	P51841	GUC2F_HUMAN	K	300	ENSP00000218006:N300K	ENSP00000218006:N300K	N	-	3	2	GUCY2F	108595159	0.998000	0.40836	0.129000	0.21949	0.983000	0.72400	0.389000	0.20751	-0.179000	0.10654	-0.253000	0.11424	AAC		0.478	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		T	108708503	G	T	108708503	3	4	521	1	0	0	0	0	1	0	0	0	6900	1368	48	4	2494	4	GUCY2F	23	108708503	Missense_Mutation	SNP	G	TCGA-CJ-4897-01A-03D-1429-08	55033288	108708503	46562057	69	27860											
XIAP	331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123020288	123020288	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4897-01A-03D-1429-08	TCGA-CJ-4897-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c1331eec-e2df-4924-918b-7e5134e933c2	d294e13c-9c97-4dcb-a1ac-4b345a27c4de	g.chrX:123020288A>G	ENST00000371199.3	+	2	1075	c.776A>G	c.(775-777)aAt>aGt	p.N259S	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.N259S|XIAP_ENST00000434753.3_Missense_Mutation_p.N259S	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	259					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N259S(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						CTTCCAAGAAATCCATCCATG	0.383									X-linked Lymphoproliferative syndrome																																							1	Substitution - Missense(1)	kidney(1)											90	88	89					X																	123020288		2203	4300	6503	SO:0001583	missense	331	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"Baculoviral IAP repeat containing"	592	protein-coding gene	gene with protein product		300079	"baculoviral IAP repeat-containing 4"	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.776A>G	X.37:g.123020288A>G	ENSP00000360242:p.Asn259Ser		D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.571777	0.28003	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.03889	3.77;3.77;3.77	5.81	4.65	0.58169	Baculoviral inhibition of apoptosis protein repeat (1);	0.231330	0.37857	N	0.001914	T	0.04407	0.0121	L	0.38531	1.155	0.30914	N	0.728803	B	0.13145	0.007	B	0.04013	0.001	T	0.20371	-1.0277	9	.	.	.	-26.4307	8.1825	0.31319	0.8451:0.0:0.1549:0.0	.	259	P98170	XIAP_HUMAN	S	259	ENSP00000395230:N259S;ENSP00000360242:N259S;ENSP00000347858:N259S	.	N	+	2	0	XIAP	122847969	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.714000	0.37961	0.829000	0.34733	0.413000	0.27773	AAT		0.383	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		G	123020288	A	G	123020288	3	3	521	1	0	0	0	0	1	0	0	0	17433	101	4	3	778	3	XIAP	23	123020288	Missense_Mutation	SNP	A	TCGA-CJ-4897-01A-03D-1429-08	14311785	123020288	32250272	70	27861											
PRAMEF1	65121	broad.mit.edu;hgsc.bcm.edu	37	1	12854406	12854406	+	Silent	SNP	G	G	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr1:12854406G>A	ENST00000332296.7	+	3	733	c.630G>A	c.(628-630)ctG>ctA	p.L210L	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	210					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)			p.L210L(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		TTCAAGAGCTGGAAATTCGCA	0.403																																																2	Substitution - coding silent(2)	kidney(2)											353	322	332					1																	12854406		2203	4300	6503	SO:0001819	synonymous_variant	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.630G>A	1.37:g.12854406G>A			Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																				0.403	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		A	12854406	G	A	12854406	2	1	522	1	0	0	0	0	0	0	0	1	12430	1335	47	2		2	PRAMEF1	1	12854406	Silent	SNP	G	TCGA-CJ-4899-01A-01D-1462-08		12854406	236396215	1	27862											
POGK	57645	broad.mit.edu;hgsc.bcm.edu	37	1	166816822	166816822	+	Silent	SNP	C	C	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr1:166816822C>G	ENST00000367875.1	+	4	711	c.351C>G	c.(349-351)acC>acG	p.T117T	POGK_ENST00000367876.4_Silent_p.T117T|POGK_ENST00000537173.1_Intron|POGK_ENST00000536514.1_Silent_p.T32T			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	117	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T117T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AAGGAGGCACCTCTGCAGGTA	0.493																																					GBM(76;192 1530 30153 48742)											1	Substitution - coding silent(1)	kidney(1)											59	52	54					1																	166816822		2203	4300	6503	SO:0001819	synonymous_variant	57645			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.351C>G	1.37:g.166816822C>G			Q5TIJ1|Q8TE07	Silent	SNP	ENST00000367875.1	37	CCDS1254.1																																																																																				0.493	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		G	166816822	C	G	166816822	2	3	522	1	0	0	0	0	0	0	0	1	12187	668	24	4		4	POGK	1	166816822	Silent	SNP	C	TCGA-CJ-4899-01A-01D-1462-08	153962416	166816822	82433799	2	27863											
WNT3A	89780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	228246774	228246774	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr1:228246774G>T	ENST00000284523.1	+	4	745	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	WNT3A_ENST00000366753.2_Missense_Mutation_p.D223Y	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	223					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)	p.D223Y(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GTCGCAACCCGACTTCCGCGC	0.657																																																1	Substitution - Missense(1)	kidney(1)											57	58	58					1																	228246774		2203	4300	6503	SO:0001583	missense	89780			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.667G>T	1.37:g.228246774G>T	ENSP00000284523:p.Asp223Tyr		Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132328	0.77662	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.77098	-1.07;-1.07	4.58	4.58	0.56647	.	0.105824	0.64402	D	0.000006	D	0.89248	0.6661	M	0.91818	3.245	0.49915	D	0.999838	P;P	0.50943	0.618;0.94	P;P	0.58577	0.841;0.703	D	0.92141	0.5720	10	0.87932	D	0	.	17.726	0.88365	0.0:0.0:1.0:0.0	.	223;223	P56704;Q3SY79	WNT3A_HUMAN;.	Y	223	ENSP00000284523:D223Y;ENSP00000355715:D223Y	ENSP00000284523:D223Y	D	+	1	0	WNT3A	226313397	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	6.614000	0.74197	2.243000	0.73865	0.491000	0.48974	GAC		0.657	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		T	228246774	G	T	228246774	3	4	522	1	0	0	0	0	1	0	0	0	17394	1058	37	4	681	4	WNT3A	1	228246774	Missense_Mutation	SNP	G	TCGA-CJ-4899-01A-01D-1462-08	61429952	228246774	21003847	3	27864											
PSME4	23198	broad.mit.edu	37	2	54176396	54176396	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr2:54176396T>A	ENST00000404125.1	-	2	322	c.267A>T	c.(265-267)aaA>aaT	p.K89N	PSME4_ENST00000421748.2_Missense_Mutation_p.N4I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	89					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.K89N(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTTTGCTAAATTTTCTCCCAT	0.338																																																1	Substitution - Missense(1)	kidney(1)											90	74	79					2																	54176396		692	1591	2283	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.267A>T	2.37:g.54176396T>A	ENSP00000384211:p.Lys89Asn		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.03|14.03	2.412773|2.412773	0.42817|0.42817	.|.	.|.	ENSG00000068878|ENSG00000068878	ENST00000404125|ENST00000421748	T|T	0.04809|0.28069	3.55|1.63	5.1|5.1	3.95|3.95	0.45737|0.45737	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.40196|0.40196	0.1107|0.1107	M|M	0.81341|0.81341	2.54|2.54	0.25453|0.25453	N|N	0.987982|0.987982	D|P	0.55172|0.40794	0.97|0.729	B|B	0.40375|0.42692	0.327|0.395	T|T	0.35773|0.35773	-0.9775|-0.9775	10|9	0.30854|0.87932	T|D	0.27|0	.|.	9.0078|9.0078	0.36122|0.36122	0.0:0.1509:0.0:0.8491|0.0:0.1509:0.0:0.8491	.|.	89|4	Q14997|Q14997-3	PSME4_HUMAN|.	N|I	89|4	ENSP00000384211:K89N|ENSP00000410830:N4I	ENSP00000374643:K89N|ENSP00000410830:N4I	K|N	-|-	3|2	2|0	PSME4|PSME4	54029900|54029900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.513000|1.513000	0.35823|0.35823	0.882000|0.882000	0.36016|0.36016	-0.250000|-0.250000	0.11733|0.11733	AAA|AAT		0.338	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		A	54176396	T	A	54176396	3	1	522	1	0	0	0	0	1	0	0	0	12714	1490	52	5	5444	5	PSME4	2	54176396	Missense_Mutation	SNP	T	TCGA-CJ-4899-01A-01D-1462-08		54176396	189022977	4	27865											
MAT2A	4144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	85768975	85768975	+	Silent	SNP	T	T	C			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr2:85768975T>C	ENST00000306434.3	+	5	552	c.429T>C	c.(427-429)acT>acC	p.T143T	MAT2A_ENST00000409017.1_Silent_p.T80T|MAT2A_ENST00000490878.1_3'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	143					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.T143T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCTATGCCACTGATGAAACTG	0.418																																																1	Substitution - coding silent(1)	kidney(1)											123	110	114					2																	85768975		2203	4300	6503	SO:0001819	synonymous_variant	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.429T>C	2.37:g.85768975T>C			A8K511|B4DN45|D6W5L1|Q53SP5	Silent	SNP	ENST00000306434.3	37	CCDS1977.1																																																																																				0.418	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		C	85768975	T	C	85768975	2	2	522	1	0	0	0	0	0	0	0	1	9332	1567	55	3		3	MAT2A	2	85768975	Silent	SNP	T	TCGA-CJ-4899-01A-01D-1462-08	31592579	85768975	157430398	5	27866											
FBLN7	129804	broad.mit.edu	37	2	112896287	112896287	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr2:112896287C>A	ENST00000331203.2	+	1	326	c.55C>A	c.(55-57)Ccc>Acc	p.P19T	FBLN7_ENST00000409903.1_Missense_Mutation_p.P19T|FBLN7_ENST00000409667.3_Missense_Mutation_p.P19T|FBLN7_ENST00000409450.3_Missense_Mutation_p.P19T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	19					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.P19T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCTCGCCTGCCCCGAGCCGCG	0.672																																																1	Substitution - Missense(1)	kidney(1)											27	32	30					2																	112896287		2203	4297	6500	SO:0001583	missense	129804				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"Fibulins"	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.55C>A	2.37:g.112896287C>A	ENSP00000331411:p.Pro19Thr		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251058	0.22880	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450	T;T;T;T	0.80566	-1.39;-1.31;1.48;-1.35	3.55	0.75	0.18387	.	0.666605	0.14569	N	0.311566	T	0.69052	0.3068	L	0.47716	1.5	0.32587	N	0.527726	B;B;B;B	0.32829	0.386;0.275;0.099;0.267	B;B;B;B	0.28139	0.086;0.052;0.027;0.039	T	0.65565	-0.6137	10	0.34782	T	0.22	-11.1562	7.3246	0.26547	0.0:0.681:0.0:0.319	.	19;19;19;19	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	T	19	ENSP00000331411:P19T;ENSP00000386295:P19T;ENSP00000386822:P19T;ENSP00000387000:P19T	ENSP00000331411:P19T	P	+	1	0	FBLN7	112612758	0.001000	0.12720	0.854000	0.33618	0.972000	0.66771	-0.708000	0.05035	0.147000	0.19030	-0.254000	0.11334	CCC		0.672	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		A	112896287	C	A	112896287	3	1	522	1	0	0	0	0	1	0	0	0	5703	623	22	4	57	4	FBLN7	2	112896287	Missense_Mutation	SNP	C	TCGA-CJ-4899-01A-01D-1462-08	27127312	112896287	130303086	6	27867											
COL3A1	1281	hgsc.bcm.edu;ucsc.edu	37	2	189875056	189875056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr2:189875056delG	ENST00000304636.3	+	49	4146	c.3976delG	c.(3976-3978)gttfs	p.V1326fs	COL3A1_ENST00000317840.5_Frame_Shift_Del_p.V1023fs	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1326	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GAAGAAACACGTTTGGTTTGG	0.388																																																0													145	145	145					2																	189875056		2203	4300	6503	SO:0001589	frameshift_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3976delG	2.37:g.189875056delG	ENSP00000304408:p.Val1326fs		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Frame_Shift_Del	DEL	ENST00000304636.3	37	CCDS2297.1																																																																																				0.388	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		-	189875056	G	-	189875056	7	5	522	1	0	1	0	1	0	0	0	0	3690	1145	40	0	4170	0	COL3A1	2	189875056	Frame_Shift_Del	DEL	G	TCGA-CJ-4899-01A-01D-1462-08	76978769	189875056	53324317	7	27868											
COL7A1	1294	broad.mit.edu	37	3	48609479	48609479	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr3:48609479C>T	ENST00000328333.8	-	91	7131		c.e91-1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCTTCACCCTGCACAGAAT	0.672																																																1	Unknown(1)	kidney(1)											31	29	30					3																	48609479		2203	4300	6503	SO:0001630	splice_region_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7024-1G>A	3.37:g.48609479C>T			Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790235	0.31685	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.7	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9751	0.58532	0.0:0.9255:0.0:0.0745	.	.	.	.	.	-1	.	.	.	-	.	.	COL7A1	48584483	1.000000	0.71417	0.996000	0.52242	0.258000	0.26162	3.169000	0.50809	1.419000	0.47118	-0.136000	0.14681	.		0.672	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Intron	T	48609479	C	T	48609479	5	4	522	1	0	0	0	0	0	0	1	0	3706	695	24	2	1923	2	COL7A1	3	48609479	Splice_Site	SNP	C	TCGA-CJ-4899-01A-01D-1462-08		48609479	149412951	8	27869											
CEP135	9662	broad.mit.edu;hgsc.bcm.edu	37	4	56825852	56825852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr4:56825852C>T	ENST00000257287.4	+	6	743	c.619C>T	c.(619-621)Caa>Taa	p.Q207*	CEP135_ENST00000422247.2_Nonsense_Mutation_p.Q207*	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	207					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.Q207*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTTCAGGATTCAAGAACTTCA	0.328																																																1	Substitution - Nonsense(1)	kidney(1)											87	83	84					4																	56825852		2203	4300	6503	SO:0001587	stop_gained	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.619C>T	4.37:g.56825852C>T	ENSP00000257287:p.Gln207*		B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	36	5.770696	0.96914	.	.	ENSG00000174799	ENST00000422247;ENST00000257287	.	.	.	4.63	4.63	0.57726	.	0.249530	0.41605	D	0.000857	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	17.8589	0.88775	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000257287:Q207X	Q	+	1	0	CEP135	56520609	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.528000	0.53524	2.266000	0.75297	0.561000	0.74099	CAA		0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		T	56825852	C	T	56825852	4	4	522	1	0	0	0	0	0	1	0	0	3249	827	29	2	637	2	CEP135	4	56825852	Nonsense_Mutation	SNP	C	TCGA-CJ-4899-01A-01D-1462-08		56825852	134328424	9	27870											
DTWD2	285605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	118280326	118280326	+	Silent	SNP	A	A	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr5:118280326A>G	ENST00000510708.1	-	2	270	c.237T>C	c.(235-237)tgT>tgC	p.C79C	DTWD2_ENST00000304058.4_Silent_p.C13C|DTWD2_ENST00000515439.3_Silent_p.C79C	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	79								p.C79C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		ATGGACACAAACACACTTTCT	0.353																																																1	Substitution - coding silent(1)	kidney(1)											102	106	105					5																	118280326		2202	4300	6502	SO:0001819	synonymous_variant	285605				CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.237T>C	5.37:g.118280326A>G				Silent	SNP	ENST00000510708.1	37	CCDS34216.1																																																																																				0.353	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		G	118280326	A	G	118280326	2	3	522	1	0	0	0	0	0	0	0	1	4794	41	2	3		3	DTWD2	5	118280326	Silent	SNP	A	TCGA-CJ-4899-01A-01D-1462-08		118280326	62634934	10	27871											
TCOF1	6949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149743741	149743741	+	Missense_Mutation	SNP	G	G	T	rs145365677	byFrequency	TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr5:149743741G>T	ENST00000504761.2	+	3	230	c.230G>T	c.(229-231)cGt>cTt	p.R77L	TCOF1_ENST00000439160.2_Missense_Mutation_p.R77L|TCOF1_ENST00000394269.3_Missense_Mutation_p.R77L|TCOF1_ENST00000451292.1_Missense_Mutation_p.R77L|TCOF1_ENST00000513346.1_Missense_Mutation_p.R77L|TCOF1_ENST00000377797.3_Missense_Mutation_p.R77L|TCOF1_ENST00000323668.7_Missense_Mutation_p.R77L|TCOF1_ENST00000445265.2_Missense_Mutation_p.R77L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	77					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)	p.R77L(2)		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)			AAGAAAACCCGTGTGTCAGAC	0.557																																																2	Substitution - Missense(2)	kidney(2)											100	95	97					5																	149743741		2203	4300	6503	SO:0001583	missense	6949				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.230G>T	5.37:g.149743741G>T	ENSP00000421655:p.Arg77Leu		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622203	0.46840	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346;ENST00000515516	D;D;D;D;D;T;D;D;D;D	0.88896	-1.8;-2.01;-1.83;-1.84;-1.96;1.56;-1.83;-1.97;-1.96;-2.44	4.95	4.09	0.47781	.	0.000000	0.42172	D	0.000755	D	0.93044	0.7786	M	0.76328	2.33	0.09310	N	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.997;0.994;0.999;0.999	D	0.86028	0.1511	10	0.87932	D	0	-8.6931	9.8892	0.41279	0.0966:0.0:0.9034:0.0	.	77;77;77;77;77;77	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	L	77;77;77;77;77;77;77;77;77;65	ENSP00000400939:R77L;ENSP00000367028:R77L;ENSP00000409944:R77L;ENSP00000325223:R77L;ENSP00000406888:R77L;ENSP00000377811:R77L;ENSP00000390717:R77L;ENSP00000421655:R77L;ENSP00000427484:R77L;ENSP00000426471:R65L	ENSP00000325223:R77L	R	+	2	0	TCOF1	149723934	0.775000	0.28604	0.062000	0.19696	0.220000	0.24768	4.670000	0.61583	1.409000	0.46915	0.563000	0.77884	CGT		0.557	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		T	149743741	G	T	149743741	3	4	522	1	0	0	0	0	1	0	0	0	15713	1145	40	4	240	4	TCOF1	5	149743741	Missense_Mutation	SNP	G	TCGA-CJ-4899-01A-01D-1462-08	31463415	149743741	31171519	11	27872											
IGF2R	3482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160465623	160465623	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr6:160465623T>G	ENST00000356956.1	+	13	1847	c.1699T>G	c.(1699-1701)Tca>Gca	p.S567A		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	567					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.S567A(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACTCTCTTATTCAGATGGTGA	0.328																																																1	Substitution - Missense(1)	kidney(1)											54	55	54					6																	160465623		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1699T>G	6.37:g.160465623T>G	ENSP00000349437:p.Ser567Ala		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253838	0.39896	.	.	ENSG00000197081	ENST00000356956	T	0.04083	3.71	5.91	1.83	0.25207	Mannose-6-phosphate receptor, binding (1);	0.420553	0.26349	N	0.024887	T	0.01976	0.0062	L	0.49126	1.545	0.37616	D	0.921107	B	0.26577	0.153	B	0.25140	0.058	T	0.39840	-0.9594	10	0.44086	T	0.13	-8.8585	8.6336	0.33935	0.1199:0.0:0.2504:0.6297	.	567	P11717	MPRI_HUMAN	A	567	ENSP00000349437:S567A	ENSP00000349437:S567A	S	+	1	0	IGF2R	160385613	0.161000	0.22892	0.859000	0.33776	0.804000	0.45430	0.619000	0.24388	0.429000	0.26202	0.533000	0.62120	TCA		0.328	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		G	160465623	T	G	160465623	3	3	522	1	0	0	0	0	1	0	0	0	7578	1783	62	5	1749	5	IGF2R	6	160465623	Missense_Mutation	SNP	T	TCGA-CJ-4899-01A-01D-1462-08		160465623	10649444	12	27873											
UBN2	254048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138958746	138958746	+	Silent	SNP	T	T	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr7:138958746T>A	ENST00000473989.3	+	11	1899	c.1899T>A	c.(1897-1899)tcT>tcA	p.S633S	UBN2_ENST00000288561.8_Silent_p.S550S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	633						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.S550S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAAGCCAGTCTGCTGAAGATT	0.368																																																1	Substitution - coding silent(1)	kidney(1)											99	97	98					7																	138958746		1832	4087	5919	SO:0001819	synonymous_variant	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1899T>A	7.37:g.138958746T>A			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	T	11.28	1.592018	0.28357	.	.	ENSG00000157741	ENST00000483726	.	.	.	5.09	1.03	0.20045	.	.	.	.	.	T	0.54287	0.1849	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42327	-0.9458	4	.	.	.	-11.7357	7.3841	0.26872	0.0:0.078:0.4217:0.5003	.	.	.	.	Q	402	.	.	L	+	2	0	UBN2	138609286	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.690000	0.25451	-0.007000	0.14345	0.528000	0.53228	CTG		0.368	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		A	138958746	T	A	138958746	2	1	522	1	0	0	0	0	0	0	0	1	16898	1567	55	5		5	UBN2	7	138958746	Silent	SNP	T	TCGA-CJ-4899-01A-01D-1462-08		138958746	20179917	13	27874											
CSMD1	64478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	2818703	2818703	+	Missense_Mutation	SNP	G	G	T	rs201200691		TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr8:2818703G>T	ENST00000520002.1	-	63	10220	c.9665C>A	c.(9664-9666)aCg>aAg	p.T3222K	CSMD1_ENST00000602557.1_Missense_Mutation_p.T3222K|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221K|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045K|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045K|CSMD1_ENST00000542608.1_Missense_Mutation_p.T3044K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3222	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.T2950K(1)|p.T3221K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTGTGGCGTACCAGGGTC	0.348																																																2	Substitution - Missense(2)	kidney(2)											77	74	75					8																	2818703		1842	4103	5945	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9665C>A	8.37:g.2818703G>T	ENSP00000430733:p.Thr3222Lys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.31|15.31	2.796672|2.796672	0.50208|0.50208	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.64260|.	-0.09;-0.09;-0.09;-0.09|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75766|.	0.3894|.	M|M	0.67700|0.67700	2.07|2.07	0.80722|0.80722	D|D	1|1	P;B;P|.	0.42010|.	0.768;0.068;0.693|.	P;B;P|.	0.52031|.	0.49;0.143;0.688|.	T|.	0.72792|.	-0.4186|.	10|.	0.10111|.	T|.	0.7|.	.|.	20.0805|20.0805	0.97772|0.97772	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3222;3222;3044|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	K|X	3045;3222;3083;3221;3044|2638	ENSP00000383047:T3045K;ENSP00000430733:T3222K;ENSP00000441462:T3221K;ENSP00000446243:T3044K|.	ENSP00000320445:T3083K|.	T|Y	-|-	2|3	0|2	CSMD1|CSMD1	2806110|2806110	1.000000|1.000000	0.71417|0.71417	0.104000|0.104000	0.21259|0.21259	0.343000|0.343000	0.28985|0.28985	5.299000|5.299000	0.65716|0.65716	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	ACG|TAC		0.348	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	2818703	G	T	2818703	3	4	522	1	0	0	0	0	1	0	0	0	3946	1145	40	4	1068	4	CSMD1	8	2818703	Missense_Mutation	SNP	G	TCGA-CJ-4899-01A-01D-1462-08		2818703	143545319	14	27875											
NFKBIL2	4796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145666223	145666223	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr8:145666223C>G	ENST00000409379.3	-	9	1071	c.1042G>C	c.(1042-1044)Ggt>Cgt	p.G348R	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	348					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.G189R(1)|p.G348R(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CGCTCAGCACCCGGTCTGTCC	0.657																																																2	Substitution - Missense(2)	kidney(2)											60	55	57					8																	145666223		2203	4299	6502	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1042G>C	8.37:g.145666223C>G	ENSP00000386239:p.Gly348Arg		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234416	0.58886	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.74842	-0.88	4.88	3.79	0.43588	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.564938	0.18535	N	0.138391	T	0.65770	0.2723	L	0.47716	1.5	0.09310	N	1	P	0.45902	0.868	B	0.42319	0.383	T	0.56414	-0.7983	10	0.17832	T	0.49	-19.7915	11.3617	0.49646	0.0:0.8936:0.0:0.1064	.	348	Q96HA7	TONSL_HUMAN	R	348	ENSP00000386239:G348R	ENSP00000386239:G348R	G	-	1	0	TONSL	145637031	0.314000	0.24563	0.086000	0.20670	0.012000	0.07955	2.584000	0.46102	2.278000	0.76064	0.561000	0.74099	GGT		0.657	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		G	145666223	C	G	145666223	3	3	522	1	0	0	0	0	1	0	0	0	10384	623	22	4	3166	4	NFKBIL2	8	145666223	Missense_Mutation	SNP	C	TCGA-CJ-4899-01A-01D-1462-08	142847520	145666223	697799	15	27876											
C10orf18	54906	broad.mit.edu;ucsc.edu	37	10	5789077	5789077	+	Silent	SNP	A	A	C			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr10:5789077A>C	ENST00000328090.5	+	15	4318	c.3693A>C	c.(3691-3693)tcA>tcC	p.S1231S		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1231								p.S1231S(1)									GCCACACATCAGGTGACTCTT	0.413																																																1	Substitution - coding silent(1)	kidney(1)											83	82	83					10																	5789077		1979	4168	6147	SO:0001819	synonymous_variant	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3693A>C	10.37:g.5789077A>C			Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	CCDS41485.1																																																																																				0.413	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		C	5789077	A	C	5789077	2	2	522	1	0	0	0	0	0	0	0	1	1598	175	7	5		5	C10orf18	10	5789077	Silent	SNP	A	TCGA-CJ-4899-01A-01D-1462-08		5789077	129745670	16	27877											
BBOX1	8424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	27147298	27147299	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr11:27147298_27147299GC>TA	ENST00000529202.1	+	7	1273_1274	c.934_935GC>TA	c.(934-936)GCt>TAt	p.A312Y	RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.A312Y|BBOX1_ENST00000263182.3_Missense_Mutation_p.A312Y|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.A312Y|RP11-1L12.3_ENST00000526061.1_RNA			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	312					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.A312S(1)|p.A312D(1)|p.A312>?(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	gcctttttatgctgcTCTGAAG	0.391																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	8424			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	Exception_encountered	11.37:g.27147298_27147299delinsTA	ENSP00000435781:p.Ala312Tyr		B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	CCDS7862.1																																																																																				0.391	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		TA	27147299	GC	TA	27147298	3	4	522	1	0	0	0	0	1	0	0	0	1334	1319	46	4	956	4	BBOX1	11	27147298	Missense_Mutation	DNP	GC	TCGA-CJ-4899-01A-01D-1462-08		27147298	107859218	17	27878											
TSGA10IP	254187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65714961	65714961	+	RNA	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr11:65714961C>T	ENST00000532620.1	+	0	896				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.A192V(1)		endometrium(2)|kidney(3)|lung(9)	14						AGCCTGGGTGCTGAGGAGGCC	0.647																																																1	Substitution - Missense(1)	kidney(1)											35	42	40					11																	65714961		1939	4128	6067			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714961C>T			Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.647	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		T	65714961	C	T	65714961	1	4	522	0	1	0	0	0	0	0	0	0	16623	797	28	2		2	TSGA10IP	11	65714961	RNA	SNP	C	TCGA-CJ-4899-01A-01D-1462-08	38567663	65714961	69291555	18	27879											
UBE4A	9354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118263549	118263549	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr11:118263549G>C	ENST00000431736.2	+	19	3106	c.3034G>C	c.(3034-3036)Gtg>Ctg	p.V1012L	UBE4A_ENST00000545354.1_Missense_Mutation_p.V477L|UBE4A_ENST00000252108.3_Missense_Mutation_p.V1005L					ubiquitination factor E4A									p.V1012L(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTGTGACCCTGTGGTGCTGCC	0.478																																																1	Substitution - Missense(1)	kidney(1)											190	172	178					11																	118263549		2200	4296	6496	SO:0001583	missense	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3034G>C	11.37:g.118263549G>C	ENSP00000387362:p.Val1012Leu			Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	36	5.634973	0.96682	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.79845	-1.28;-1.31	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.128849	0.52532	D	0.000065	D	0.95262	0.8463	H	0.99626	4.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96970	0.9708	10	0.87932	D	0	-4.6646	20.3734	0.98896	0.0:0.0:1.0:0.0	.	1005;1012	Q14139;Q14139-2	UBE4A_HUMAN;.	L	1005;1012;477	ENSP00000252108:V1005L;ENSP00000387362:V1012L	ENSP00000252108:V1005L	V	+	1	0	UBE4A	117768759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GTG		0.478	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		C	118263549	G	C	118263549	3	2	522	1	0	0	0	0	1	0	0	0	16887	1377	48	4	3104	4	UBE4A	11	118263549	Missense_Mutation	SNP	G	TCGA-CJ-4899-01A-01D-1462-08	52548588	118263549	16742967	19	27880											
LTBP2	4053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74972836	74972836	+	Silent	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr14:74972836C>T	ENST00000261978.4	-	28	4478	c.4092G>A	c.(4090-4092)gtG>gtA	p.V1364V	LTBP2_ENST00000556690.1_Silent_p.V1320V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1364	Cys-rich.|EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.V1364V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGAGCCCTCCACGTTCTCAC	0.637																																																1	Substitution - coding silent(1)	kidney(1)											98	96	97					14																	74972836		2203	4300	6503	SO:0001819	synonymous_variant	4053				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4092G>A	14.37:g.74972836C>T			Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	CCDS9831.1																																																																																				0.637	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		T	74972836	C	T	74972836	2	4	522	1	0	0	0	0	0	0	0	1	9076	581	21	2		2	LTBP2	14	74972836	Silent	SNP	C	TCGA-CJ-4899-01A-01D-1462-08		74972836	32376704	20	27881											
USP50	373509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50835798	50835798	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr15:50835798T>A	ENST00000532404.1	-	3	614	c.441A>T	c.(439-441)aaA>aaT	p.K147N	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	152	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.K152N(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TACTTACCTTTTTTAGAGCTT	0.358																																																1	Substitution - Missense(1)	kidney(1)											44	41	42					15																	50835798		1847	4087	5934	SO:0001583	missense	373509			AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"Ubiquitin-specific peptidases"	20079	protein-coding gene	gene with protein product			"ubiquitin specific protease 50"			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.441A>T	15.37:g.50835798T>A	ENSP00000434676:p.Lys147Asn		E9PP86	Missense_Mutation	SNP	ENST00000532404.1	37	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	T	9.370	1.070220	0.20147	.	.	ENSG00000170236	ENST00000532404	T	0.29397	1.57	5.95	3.65	0.41850	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.106073	0.64402	D	0.000007	T	0.20700	0.0498	N	0.03930	-0.32	0.37707	D	0.924431	D	0.65815	0.995	D	0.74023	0.982	T	0.45527	-0.9255	10	0.02654	T	1	-15.6124	4.7775	0.13187	0.0:0.3109:0.0:0.6891	.	152	Q70EL3	UBP50_HUMAN	N	147	ENSP00000434676:K147N	ENSP00000434676:K147N	K	-	3	2	USP50	48623090	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.225000	0.32551	1.089000	0.41292	0.528000	0.53228	AAA		0.358	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			A	50835798	T	A	50835798	3	1	522	1	0	0	0	0	1	0	0	0	17087	1838	64	5	583	5	USP50	15	50835798	Missense_Mutation	SNP	T	TCGA-CJ-4899-01A-01D-1462-08		50835798	51695594	21	27882											
TRPM7	54822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50891464	50891464	+	Missense_Mutation	SNP	A	A	C	rs370499022		TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr15:50891464A>C	ENST00000313478.7	-	22	3299	c.3018T>G	c.(3016-3018)atT>atG	p.I1006M	TRPM7_ENST00000560955.1_Missense_Mutation_p.I1006M	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1006					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.I1006M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAAGAGCCATAATCACTACAA	0.338																																																1	Substitution - Missense(1)	kidney(1)											95	94	94					15																	50891464		1840	4084	5924	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3018T>G	15.37:g.50891464A>C	ENSP00000320239:p.Ile1006Met		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440377	0.43326	.	.	ENSG00000092439	ENST00000313478	T	0.77098	-1.07	5.54	4.39	0.52855	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	L	0.33093	0.98	0.48632	D	0.999683	D	0.76494	0.999	D	0.87578	0.998	T	0.79438	-0.1803	10	0.45353	T	0.12	-21.8101	11.2413	0.48970	0.8585:0.0:0.0:0.1415	.	1006	Q96QT4	TRPM7_HUMAN	M	1006	ENSP00000320239:I1006M	ENSP00000320239:I1006M	I	-	3	3	TRPM7	48678756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.399000	0.34566	0.884000	0.36064	0.491000	0.48974	ATT		0.338	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		C	50891464	A	C	50891464	3	2	522	1	0	0	0	0	1	0	0	0	16596	358	13	5	2651	5	TRPM7	15	50891464	Missense_Mutation	SNP	A	TCGA-CJ-4899-01A-01D-1462-08	55666	50891464	51639928	22	27883											
RNF40	9810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30777596	30777596	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr16:30777596G>T	ENST00000324685.6	+	9	1541	c.1106G>T	c.(1105-1107)cGc>cTc	p.R369L	RNF40_ENST00000563683.1_Intron|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	369					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R369L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ACCAATGAGCGCCTCAAGGTG	0.592																																																1	Substitution - Missense(1)	kidney(1)											66	75	72					16																	30777596		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1106G>T	16.37:g.30777596G>T	ENSP00000325677:p.Arg369Leu		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774709	0.70107	.	.	ENSG00000103549	ENST00000324685	T	0.29917	1.55	5.94	5.94	0.96194	.	0.058883	0.64402	D	0.000001	T	0.26919	0.0659	L	0.43152	1.355	0.80722	D	1	B;B	0.27932	0.19;0.194	B;B	0.28139	0.086;0.086	T	0.07366	-1.0776	10	0.72032	D	0.01	-15.8871	9.2118	0.37322	0.1536:0.0:0.8464:0.0	.	369;369	A8K6K1;O75150	.;BRE1B_HUMAN	L	369	ENSP00000325677:R369L	ENSP00000325677:R369L	R	+	2	0	RNF40	30685097	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.603000	0.67619	2.816000	0.96949	0.563000	0.77884	CGC		0.592	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		T	30777596	G	T	30777596	3	4	522	1	0	0	0	0	1	0	0	0	13499	1087	38	4	1136	4	RNF40	16	30777596	Missense_Mutation	SNP	G	TCGA-CJ-4899-01A-01D-1462-08		30777596	59577157	23	27884											
SLC47A1	55244	broad.mit.edu;ucsc.edu	37	17	19470436	19470436	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr17:19470436A>G	ENST00000270570.4	+	14	1290	c.1204A>G	c.(1204-1206)Agt>Ggt	p.S402G	SLC47A1_ENST00000457293.1_Missense_Mutation_p.S402G|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000571335.1_Missense_Mutation_p.S207G|SLC47A1_ENST00000395585.1_Missense_Mutation_p.S402G|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Missense_Mutation_p.S379G	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	402					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)	p.S402G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TCTGAGGGGGAGTGGAAATCA	0.537																																																1	Substitution - Missense(1)	kidney(1)											326	262	284					17																	19470436		2203	4300	6503	SO:0001583	missense	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1204A>G	17.37:g.19470436A>G	ENSP00000270570:p.Ser402Gly		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294614	0.40594	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.25	2.76	0.32466	.	0.513245	0.22007	N	0.065939	T	0.32164	0.0820	L	0.58669	1.825	0.32893	D	0.512164	B;B;P;B;P	0.38110	0.268;0.271;0.618;0.425;0.523	B;B;B;B;B	0.42692	0.21;0.158;0.281;0.395;0.185	T	0.46162	-0.9211	10	0.59425	D	0.04	-5.7468	7.3612	0.26748	0.7804:0.0:0.081:0.1385	.	136;379;136;402;402	E7ENC3;E7EX57;B4DDH5;Q96FL8;Q96FL8-3	.;.;.;S47A1_HUMAN;.	G	379;402;402;402;136;114	ENSP00000407155:S379G;ENSP00000270570:S402G;ENSP00000415586:S402G;ENSP00000378951:S402G	ENSP00000270570:S402G	S	+	1	0	SLC47A1	19411028	0.002000	0.14202	0.168000	0.22838	0.899000	0.52679	1.579000	0.36536	0.831000	0.34780	0.533000	0.62120	AGT		0.537	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		G	19470436	A	G	19470436	3	3	522	1	0	0	0	0	1	0	0	0	14653	304	11	3	1258	3	SLC47A1	17	19470436	Missense_Mutation	SNP	A	TCGA-CJ-4899-01A-01D-1462-08		19470436	61724774	24	27885											
SPAG5	10615	hgsc.bcm.edu;ucsc.edu	37	17	26919284	26919284	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr17:26919284delT	ENST00000321765.5	-	3	1310	c.978delA	c.(976-978)gaafs	p.E326fs		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	326					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TACCAACATCTTCTACTGCTG	0.473																																																0													107	101	103					17																	26919284		2203	4300	6503	SO:0001589	frameshift_variant	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.978delA	17.37:g.26919284delT	ENSP00000323300:p.Glu326fs		O95213|Q9BWE8|Q9NT17|Q9UFE6	Frame_Shift_Del	DEL	ENST00000321765.5	37	CCDS32594.1																																																																																				0.473	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		-	26919284	T	-	26919284	7	5	522	1	0	1	0	1	0	0	0	0	14987	1606	56	0	2691	0	SPAG5	17	26919284	Frame_Shift_Del	DEL	T	TCGA-CJ-4899-01A-01D-1462-08	7448848	26919284	54275926	25	27886											
OR4D1	26689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56232813	56232813	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr17:56232813A>G	ENST00000268912.5	+	1	320	c.299A>G	c.(298-300)cAg>cGg	p.Q100R		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	100					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)	p.Q100R(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGCATGGCCCAGATCTTCTTC	0.532																																																1	Substitution - Missense(1)	kidney(1)											109	114	112					17																	56232813		2176	4284	6460	SO:0001583	missense	26689			X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"GPCR / Class A : Olfactory receptors"	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.299A>G	17.37:g.56232813A>G	ENSP00000365451:p.Gln100Arg		B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	a	23.4	4.410484	0.83340	.	.	ENSG00000141194	ENST00000268912	T	0.00466	7.23	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.03348	0.0097	H	0.98883	4.36	0.45239	D	0.998241	D	0.71674	0.998	D	0.81914	0.995	T	0.00611	-1.1645	10	0.87932	D	0	-14.4454	13.7938	0.63157	1.0:0.0:0.0:0.0	.	100	Q15615	OR4D1_HUMAN	R	100	ENSP00000365451:Q100R	ENSP00000365451:Q100R	Q	+	2	0	OR4D1	53587812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.113000	0.64640	2.142000	0.66516	0.443000	0.29094	CAG		0.532	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			G	56232813	A	G	56232813	3	3	522	1	0	0	0	0	1	0	0	0	11055	188	7	3	301	3	OR4D1	17	56232813	Missense_Mutation	SNP	A	TCGA-CJ-4899-01A-01D-1462-08	29313529	56232813	24962397	26	27887											
JMJD6	23210	broad.mit.edu;hgsc.bcm.edu	37	17	74721938	74721938	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr17:74721938C>T	ENST00000397625.4	-	2	244		c.e2-1		METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|JMJD6_ENST00000585429.1_Splice_Site|METTL23_ENST00000588822.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000588302.1_5'Flank|JMJD6_ENST00000445478.2_Splice_Site|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000591571.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6						cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.?(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CCACGTTATCCTGAGGGAATT	0.443																																																2	Unknown(2)	kidney(2)											51	46	48					17																	74721938		1830	4088	5918	SO:0001630	splice_region_variant	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.130-1G>A	17.37:g.74721938C>T			B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Splice_Site	SNP	ENST00000397625.4	37	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616806	0.46736	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6798	0.91543	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JMJD6	72233533	1.000000	0.71417	0.995000	0.50966	0.261000	0.26267	7.806000	0.86020	2.392000	0.81423	0.455000	0.32223	.		0.443	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167	Intron	T	74721938	C	T	74721938	5	4	522	1	0	0	0	0	0	0	1	0	7955	695	24	2	1143	2	JMJD6	17	74721938	Splice_Site	SNP	C	TCGA-CJ-4899-01A-01D-1462-08	18489125	74721938	6473272	27	27888											
ESCO1	114799	hgsc.bcm.edu;ucsc.edu	37	18	19154328	19154329	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr18:19154328_19154329insT	ENST00000269214.5	-	4	1413_1414	c.476_477insA	c.(475-477)cagfs	p.Q159fs		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	159					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TACTGCTACACTGCTCTTTTTT	0.361																																																0																																										SO:0001589	frameshift_variant	114799			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.477dupA	18.37:g.19154329_19154329dupT	ENSP00000269214:p.Gln159fs		B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Frame_Shift_Ins	INS	ENST00000269214.5	37	CCDS32800.1																																																																																				0.361	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		T	19154329	-	T	19154328	7	5	522	1	0	1	1	0	0	0	0	0	5250	564	20	0	2081	0	ESCO1	18	19154328	Frame_Shift_Ins	INS	-	TCGA-CJ-4899-01A-01D-1462-08		19154328	58922920	28	27889											
CDH2	1000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	25583110	25583110	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr18:25583110C>T	ENST00000269141.3	-	7	1294	c.871G>A	c.(871-873)Gca>Aca	p.A291T	CDH2_ENST00000399380.3_Missense_Mutation_p.A260T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	291	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.A291T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCATCAATTGCTGTTACGGTC	0.433																																																1	Substitution - Missense(1)	kidney(1)											174	125	141					18																	25583110		2203	4300	6503	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.871G>A	18.37:g.25583110C>T	ENSP00000269141:p.Ala291Thr		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601735	0.66445	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.61392	0.11;0.11	5.48	5.48	0.80851	Cadherin (5);Cadherin-like (1);	0.108661	0.64402	D	0.000004	T	0.81800	0.4899	M	0.91818	3.245	0.48341	D	0.999638	D;D	0.71674	0.998;0.987	D;P	0.70487	0.969;0.824	D	0.85476	0.1176	10	0.87932	D	0	.	19.6936	0.96012	0.0:1.0:0.0:0.0	.	260;291	A8MWK3;P19022	.;CADH2_HUMAN	T	291;260	ENSP00000269141:A291T;ENSP00000382312:A260T	ENSP00000269141:A291T	A	-	1	0	CDH2	23837108	0.998000	0.40836	0.656000	0.29637	0.400000	0.30750	3.973000	0.56845	2.724000	0.93272	0.563000	0.77884	GCA		0.433	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		T	25583110	C	T	25583110	3	4	522	1	0	0	0	0	1	0	0	0	3107	797	28	2	1889	2	CDH2	18	25583110	Missense_Mutation	SNP	C	TCGA-CJ-4899-01A-01D-1462-08	6428782	25583110	52494138	29	27890											
PAF1	55588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39880362	39880362	+	5'Flank	SNP	G	G	C			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr19:39880362G>C	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Missense_Mutation_p.H60Q|PAF1_ENST00000221266.7_Missense_Mutation_p.H60Q|PAF1_ENST00000221265.3_Missense_Mutation_p.H70Q|MED29_ENST00000315588.5_5'Flank|MED29_ENST00000594368.1_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)		p.H70Q(1)		lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GGTCATGTTTGTGCTGTTTCT	0.552																																																1	Substitution - Missense(1)	kidney(1)											200	173	182					19																	39880362		2203	4300	6503	SO:0001631	upstream_gene_variant	54623			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880362G>C	Exception_encountered		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37		.	.	.	.	.	.	.	.	.	.	g	16.82	3.229035	0.58777	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.29	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.42245	1.32	0.80722	D	1	D;P	0.52996	0.957;0.719	P;P	0.49192	0.466;0.602	T	0.24440	-1.0160	9	0.26408	T	0.33	-31.4491	7.4857	0.27432	0.2667:0.0:0.7333:0.0	.	60;70	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	Q	70;60	.	ENSP00000221265:H70Q	H	-	3	2	PAF1	44572202	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.695000	0.47043	0.369000	0.24510	0.558000	0.71614	CAC		0.552	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		C	39880362	G	C	39880362	1	2	522	0	1	0	0	0	0	0	0	0	11385	1368	48	4		4	PAF1	19	39880362	5'Flank	SNP	G	TCGA-CJ-4899-01A-01D-1462-08		39880362	19248621	30	27891											
AKT1S1	84335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50374936	50374936	+	Silent	SNP	G	G	A	rs368386866		TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr19:50374936G>A	ENST00000391833.1	-	3	2484	c.495C>T	c.(493-495)ccC>ccT	p.P165P	AKT1S1_ENST00000391832.3_Silent_p.P165P|AKT1S1_ENST00000391834.2_Silent_p.P165P|AKT1S1_ENST00000344175.5_Silent_p.P165P|AKT1S1_ENST00000391831.1_Silent_p.P165P|AKT1S1_ENST00000391835.1_Silent_p.P185P	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)									p.P165P(1)		kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CTGAGCAGGTGGGGGGGCCGG	0.652																																																1	Substitution - coding silent(1)	kidney(1)											33	41	38					19																	50374936		2199	4290	6489	SO:0001819	synonymous_variant	84335			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"proline-rich Akt substrate, 40 kDa"	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.495C>T	19.37:g.50374936G>A				Silent	SNP	ENST00000391833.1	37	CCDS12784.1																																																																																				0.652	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317073.1	NM_032375		A	50374936	G	A	50374936	2	1	522	1	0	0	0	0	0	0	0	1	479	1335	47	2		2	AKT1S1	19	50374936	Silent	SNP	G	TCGA-CJ-4899-01A-01D-1462-08	10494574	50374936	8754047	31	27892											
C20orf186	149954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31690805	31690805	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr20:31690805C>A	ENST00000375483.3	+	13	1665	c.1665C>A	c.(1663-1665)aaC>aaA	p.N555K		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	555						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.N516K(1)									GAACCTCAAACGTGGGCAACT	0.498																																																1	Substitution - Missense(1)	kidney(1)											178	154	162					20																	31690805		2203	4300	6503	SO:0001583	missense	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1665C>A	20.37:g.31690805C>A	ENSP00000364632:p.Asn555Lys		Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	C	9.820	1.185437	0.21870	.	.	ENSG00000186191	ENST00000375483	T	0.06608	3.28	5.58	-6.93	0.01638	.	0.541750	0.18836	N	0.129830	T	0.15219	0.0367	M	0.65975	2.015	0.23624	N	0.997269	D	0.67145	0.996	D	0.64410	0.925	T	0.01692	-1.1294	10	0.21014	T	0.42	-20.7243	16.7112	0.85386	0.0:0.6779:0.0:0.3221	.	555	P59827	BPIB4_HUMAN	K	555	ENSP00000364632:N555K	ENSP00000364632:N555K	N	+	3	2	BPIFB4	31154466	0.047000	0.20315	0.249000	0.24280	0.000000	0.00434	-2.320000	0.01119	-2.169000	0.00777	-1.579000	0.00862	AAC		0.498	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		A	31690805	C	A	31690805	3	1	522	1	0	0	0	0	1	0	0	0	2100	535	19	4	1715	4	C20orf186	20	31690805	Missense_Mutation	SNP	C	TCGA-CJ-4899-01A-01D-1462-08		31690805	31334715	32	27893											
CHD6	84181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	40033900	40033900	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr20:40033900C>T	ENST00000373233.3	-	37	7658	c.7481G>A	c.(7480-7482)gGg>gAg	p.G2494E	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2494					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.G2494E(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCCCACCAGCCCGGTGAGGGG	0.562																																																1	Substitution - Missense(1)	kidney(1)											61	58	59					20																	40033900		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7481G>A	20.37:g.40033900C>T	ENSP00000362330:p.Gly2494Glu		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561380	0.86335	.	.	ENSG00000124177	ENST00000373233	D	0.98474	-4.95	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000009	D	0.98883	0.9622	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99824	1.1049	10	0.87932	D	0	-25.2651	19.7069	0.96076	0.0:1.0:0.0:0.0	.	2494	Q8TD26	CHD6_HUMAN	E	2494	ENSP00000362330:G2494E	ENSP00000362330:G2494E	G	-	2	0	CHD6	39467314	1.000000	0.71417	0.989000	0.46669	0.971000	0.66376	7.505000	0.81655	2.894000	0.99253	0.591000	0.81541	GGG		0.562	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			T	40033900	C	T	40033900	3	4	522	1	0	0	0	0	1	0	0	0	3331	623	22	2	670	2	CHD6	20	40033900	Missense_Mutation	SNP	C	TCGA-CJ-4899-01A-01D-1462-08	8343095	40033900	22991620	33	27894											
NHP2L1	4809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42071041	42071041	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chr22:42071041C>T	ENST00000401959.1	-	4	599	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.V95I|NHP2L1_ENST00000402458.1_Missense_Mutation_p.V99I|NHP2L1_ENST00000215956.5_Missense_Mutation_p.V95I	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	95					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V95I(1)		endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GGCCTGGAGACCCCACAGGCT	0.552																																																1	Substitution - Missense(1)	kidney(1)											80	75	77					22																	42071041		2203	4300	6503	SO:0001583	missense	4809				CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"	601304	"non-histone chromosome protein 2 (S. cerevisiae)-like 1", "sperm specific antigen 1"	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.283G>A	22.37:g.42071041C>T	ENSP00000383949:p.Val95Ile			Missense_Mutation	SNP	ENST00000401959.1	37	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075861	0.36662	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.34	4.33	0.51752	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.054035	0.64402	N	0.000001	T	0.59972	0.2233	L	0.41710	1.295	0.80722	D	1	D	0.64830	0.994	P	0.61132	0.884	T	0.60419	-0.7267	10	0.44086	T	0.13	.	14.2921	0.66286	0.0:0.928:0.0:0.072	.	95	P55769	NH2L1_HUMAN	I	95;95;95;99	ENSP00000347401:V95I;ENSP00000215956:V95I;ENSP00000383949:V95I;ENSP00000383989:V99I	ENSP00000215956:V95I	V	-	1	0	NHP2L1	40400987	1.000000	0.71417	0.974000	0.42286	0.273000	0.26683	7.445000	0.80570	1.400000	0.46741	-0.229000	0.12294	GTC		0.552	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		T	42071041	C	T	42071041	3	4	522	1	0	0	0	0	1	0	0	0	10412	507	18	2	107	2	NHP2L1	22	42071041	Missense_Mutation	SNP	C	TCGA-CJ-4899-01A-01D-1462-08		42071041	9233525	34	27895											
IDS	3423	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	148577954	148577954	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4899-01A-01D-1462-08	TCGA-CJ-4899-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	943ca428-39f6-4ad2-8ca5-220628a6b5bb	2fa78925-1a3a-488c-944f-9ecab35bcd5b	g.chrX:148577954delT	ENST00000340855.6	-	6	1011	c.802delA	c.(802-804)atgfs	p.M268fs	IDS_ENST00000370441.4_Frame_Shift_Del_p.M268fs|IDS_ENST00000541269.1_Frame_Shift_Del_p.M57fs|IDS_ENST00000422081.2_Frame_Shift_Del_p.M57fs|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370443.4_Frame_Shift_Del_p.M268fs	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	268					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGATGTCCATCCAGGGGTTG	0.542																																																0													175	144	155					X																	148577954		2203	4300	6503	SO:0001589	frameshift_variant	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.802delA	X.37:g.148577954delT	ENSP00000339801:p.Met268fs		D3DWT4|Q14604|Q9BRM3	Frame_Shift_Del	DEL	ENST00000340855.6	37	CCDS14685.1																																																																																				0.542	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			-	148577954	T	-	148577954	7	5	522	1	0	1	0	1	0	0	0	0	7505	1435	50	0	896	0	IDS	23	148577954	Frame_Shift_Del	DEL	T	TCGA-CJ-4899-01A-01D-1462-08		148577954	6692606	35	27896											
C1orf63	57035	broad.mit.edu	37	1	25572997	25572997	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:25572997C>G	ENST00000243189.7	-	2	734	c.458G>C	c.(457-459)aGa>aCa	p.R153T	C1orf63_ENST00000431849.2_Missense_Mutation_p.R153T|RP3-465N24.6_ENST00000607698.1_lincRNA|C1orf63_ENST00000417642.2_Missense_Mutation_p.R146T	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		153	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTCCCTCCATCTGCTGTGCTC	0.582																																																0													138	133	135					1																	25572997		2203	4300	6503	SO:0001583	missense	57035																														ENST00000243189.7:c.458G>C	1.37:g.25572997C>G	ENSP00000243189:p.Arg153Thr		A8K917|Q49AA4|Q5TH71|Q9GZP6	Missense_Mutation	SNP	ENST00000243189.7	37	CCDS260.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482093	0.63849	.	.	ENSG00000117616	ENST00000243189;ENST00000417642;ENST00000431849;ENST00000511740	T;T;T	0.48522	1.47;1.46;0.81	4.42	3.51	0.40186	.	0.503993	0.16400	N	0.216044	T	0.35038	0.0918	N	0.22421	0.69	0.09310	N	1	P	0.36837	0.571	B	0.39503	0.301	T	0.16719	-1.0393	10	0.44086	T	0.13	-1.1209	9.7966	0.40740	0.0:0.9044:0.0:0.0956	.	153	Q9BUV0	CA063_HUMAN	T	153;146;153;85	ENSP00000243189:R153T;ENSP00000411631:R146T;ENSP00000391510:R153T	ENSP00000243189:R153T	R	-	2	0	C1orf63	25445584	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	0.442000	0.21628	1.209000	0.43321	0.555000	0.69702	AGA		0.582	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			G	25572997	C	G	25572997	3	3	523	1	0	0	0	0	1	0	0	0	2055	913	32	4	430	4	C1orf63	1	25572997	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08		25572997	223677624	1	27897											
C1orf141	400757	broad.mit.edu	37	1	67561005	67561005	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:67561005C>T	ENST00000371007.2	-	7	625	c.516G>A	c.(514-516)ttG>ttA	p.L172L	C1orf141_ENST00000371006.1_Silent_p.L172L|C1orf141_ENST00000544837.1_Silent_p.L172L	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	172										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ACAACGGGAGCAAGCTTTTCT	0.333																																																0													124	109	114					1																	67561005		2202	4300	6502	SO:0001819	synonymous_variant	400757			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.516G>A	1.37:g.67561005C>T			Q0P5P5|Q5JVX5	Silent	SNP	ENST00000371007.2	37	CCDS30745.1																																																																																				0.333	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		T	67561005	C	T	67561005	2	4	523	1	0	0	0	0	0	0	0	1	2003	709	25	2		2	C1orf141	1	67561005	Silent	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	41988008	67561005	181689616	2	27898											
VCAM1	7412	broad.mit.edu	37	1	101186182	101186182	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:101186182C>T	ENST00000294728.2	+	2	316	c.215C>T	c.(214-216)aCg>aTg	p.T72M	VCAM1_ENST00000347652.2_Missense_Mutation_p.T72M|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.T72M	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	72	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.T72M(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGGAAGGTGACGAATGAGGGG	0.468																																																1	Substitution - Missense(1)	large_intestine(1)											99	85	90					1																	101186182		2203	4300	6503	SO:0001583	missense	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.215C>T	1.37:g.101186182C>T	ENSP00000294728:p.Thr72Met		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	7.866	0.727025	0.15439	.	.	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	T;T;T	0.69306	-0.39;-0.39;-0.39	5.82	-11.6	0.00059	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.298560	0.04298	N	0.346771	T	0.22898	0.0553	N	0.22421	0.69	0.09310	N	1	B;P	0.37466	0.276;0.596	B;B	0.42851	0.04;0.4	T	0.47368	-0.9123	9	.	.	.	-0.2294	2.66	0.05024	0.4412:0.2077:0.2127:0.1384	.	72;72	P19320-2;P19320	.;VCAM1_HUMAN	M	72	ENSP00000304611:T72M;ENSP00000294728:T72M;ENSP00000359133:T72M	.	T	+	2	0	VCAM1	100958770	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-2.211000	0.01226	-3.360000	0.00179	-0.768000	0.03414	ACG		0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		T	101186182	C	T	101186182	3	4	523	1	0	0	0	0	1	0	0	0	17142	536	19	1	221	1	VCAM1	1	101186182	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	33625177	101186182	148064439	3	27899											
REG4	83998	broad.mit.edu	37	1	120342348	120342348	+	Splice_Site	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:120342348C>G	ENST00000354219.1	-	5	742	c.303G>C	c.(301-303)aaG>aaC	p.K101N	REG4_ENST00000256585.5_Splice_Site_p.K101N|REG4_ENST00000530654.1_Splice_Site_p.K101N	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	101	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|Carbohydrate-binding.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CTGAGGTTACCTTCTGTGGGT	0.532																																																0													141	131	134					1																	120342348		2203	4300	6503	SO:0001630	splice_region_variant	83998			AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"regenerating gene type IV", " gastrointestinal secretory protein"	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.303+1G>C	1.37:g.120342348C>G			Q8NER6|Q8NER7	Splice_Site	SNP	ENST00000354219.1	37	CCDS906.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102945	0.76983	.	.	ENSG00000134193	ENST00000354219;ENST00000256585;ENST00000369402;ENST00000530654	T;T;T	0.18657	2.2;2.2;2.76	4.89	4.89	0.63831	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.267708	0.32055	N	0.006649	T	0.26376	0.0644	L	0.47190	1.495	0.80722	D	1	D	0.58970	0.984	D	0.65443	0.935	T	0.00533	-1.1685	9	.	.	.	-25.6807	13.4695	0.61273	0.0:1.0:0.0:0.0	.	101	Q9BYZ8	REG4_HUMAN	N	101	ENSP00000346158:K101N;ENSP00000256585:K101N;ENSP00000437135:K101N	.	K	-	3	2	REG4	120143871	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	3.190000	0.50973	2.551000	0.86045	0.650000	0.86243	AAG		0.532	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044	Missense_Mutation	G	120342348	C	G	120342348	5	3	523	1	0	0	0	0	0	0	1	0	13220	695	24	4	185	4	REG4	1	120342348	Splice_Site	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	19156166	120342348	128908273	4	27900											
SPTA1	6708	broad.mit.edu	37	1	158614129	158614129	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:158614129G>T	ENST00000368147.4	-	30	4432	c.4252C>A	c.(4252-4254)Ctg>Atg	p.L1418M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1418					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGACCTCAGGGAATTCTCA	0.463																																																0													109	106	107					1																	158614129		1949	4148	6097	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4252C>A	1.37:g.158614129G>T	ENSP00000357129:p.Leu1418Met		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269749	0.59540	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61742	0.08;0.08	5.03	4.12	0.48240	.	0.000000	0.26535	N	0.023825	T	0.72179	0.3428	M	0.90814	3.15	0.43536	D	0.995822	D	0.89917	1.0	D	0.79784	0.993	T	0.77872	-0.2426	10	0.72032	D	0.01	.	10.059	0.42263	0.1649:0.0:0.8351:0.0	.	1418	P02549	SPTA1_HUMAN	M	1418	ENSP00000357130:L1418M;ENSP00000357129:L1418M	ENSP00000357129:L1418M	L	-	1	2	SPTA1	156880753	1.000000	0.71417	0.911000	0.35937	0.900000	0.52787	3.439000	0.52878	1.486000	0.48398	0.591000	0.81541	CTG		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158614129	G	T	158614129	3	4	523	1	0	0	0	0	1	0	0	0	15121	991	35	4	3099	4	SPTA1	1	158614129	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	38271781	158614129	90636492	5	27901											
VANGL2	57216	broad.mit.edu	37	1	160394984	160394984	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:160394984C>T	ENST00000368061.2	+	8	1856	c.1382C>T	c.(1381-1383)aCa>aTa	p.T461I		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	461					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAGTGGACATTGGTGAGC	0.567																																																0													81	74	77					1																	160394984		2203	4300	6503	SO:0001583	missense	57216			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1382C>T	1.37:g.160394984C>T	ENSP00000357040:p.Thr461Ile		D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352231	0.82132	.	.	ENSG00000162738	ENST00000368061	D	0.81579	-1.51	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85527	0.1207	10	0.41790	T	0.15	-11.9718	15.5184	0.75842	0.0:1.0:0.0:0.0	.	461	Q9ULK5	VANG2_HUMAN	I	461	ENSP00000357040:T461I	ENSP00000357040:T461I	T	+	2	0	VANGL2	158661608	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.602000	0.61098	2.205000	0.71048	0.591000	0.81541	ACA		0.567	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		T	160394984	C	T	160394984	3	4	523	1	0	0	0	0	1	0	0	0	17125	478	17	2	1408	2	VANGL2	1	160394984	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	1780855	160394984	88855637	6	27902											
FAM5B	57795	broad.mit.edu	37	1	177250282	177250282	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:177250282C>G	ENST00000361539.4	+	8	2282	c.1970C>G	c.(1969-1971)tCc>tGc	p.S657C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	657					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GATGACAGCTCCAATGAGACA	0.458																																																0													66	64	64					1																	177250282		2203	4300	6503	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1970C>G	1.37:g.177250282C>G	ENSP00000354481:p.Ser657Cys		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249602	0.39797	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.15139	2.45	5.16	5.16	0.70880	.	0.202547	0.43260	D	0.000593	T	0.22399	0.0540	N	0.22421	0.69	0.35710	D	0.816302	D;D	0.58620	0.98;0.983	P;B	0.56700	0.804;0.431	T	0.13361	-1.0512	10	0.48119	T	0.1	-23.3435	13.9186	0.63916	0.0:0.8473:0.1527:0.0	.	552;657	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	C	410;657	ENSP00000354481:S657C	ENSP00000354481:S657C	S	+	2	0	FAM5B	175516905	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.185000	0.42584	2.391000	0.81399	0.313000	0.20887	TCC		0.458	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		G	177250282	C	G	177250282	3	3	523	1	0	0	0	0	1	0	0	0	5595	855	30	4	1996	4	FAM5B	1	177250282	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	16855298	177250282	72000339	7	27903											
ZBTB41	360023	broad.mit.edu	37	1	197169167	197169167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:197169167G>T	ENST00000367405.4	-	1	505	c.437C>A	c.(436-438)tCa>tAa	p.S146*	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	146	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAAAAATTCTGATGTGTAAAG	0.333																																																0													44	42	43					1																	197169167		2203	4300	6503	SO:0001587	stop_gained	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.437C>A	1.37:g.197169167G>T	ENSP00000356375:p.Ser146*		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Nonsense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	36	5.923150	0.97110	.	.	ENSG00000177888	ENST00000367405	.	.	.	4.77	4.77	0.60923	.	0.000000	0.37348	N	0.002124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7988	0.88580	0.0:0.0:1.0:0.0	.	.	.	.	X	146	.	ENSP00000356375:S146X	S	-	2	0	ZBTB41	195435790	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.471000	0.97696	2.162000	0.67917	0.305000	0.20034	TCA		0.333	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		T	197169167	G	T	197169167	4	4	523	1	0	0	0	0	0	1	0	0	17548	1294	45	4	2332	4	ZBTB41	1	197169167	Nonsense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	19918885	197169167	52081454	8	27904											
ATP2B4	493	broad.mit.edu	37	1	203677096	203677096	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:203677096G>A	ENST00000357681.5	+	10	2544	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	ATP2B4_ENST00000367219.3_Missense_Mutation_p.R462H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R474H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R474H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R474H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	474					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCATGAACCGCATGACTGTG	0.507																																																0													175	151	159					1																	203677096		2203	4300	6503	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1421G>A	1.37:g.203677096G>A	ENSP00000350310:p.Arg474His		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210583	0.79240	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97	5.54	5.54	0.83059	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.51477	D	0.000082	D	0.97365	0.9138	M	0.83223	2.63	0.80722	D	1	B;D;B	0.59767	0.355;0.986;0.169	B;P;B	0.51297	0.089;0.665;0.029	D	0.97722	1.0197	10	0.62326	D	0.03	-11.3757	19.0733	0.93148	0.0:0.0:1.0:0.0	.	474;474;474	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	474;474;462;474;474	ENSP00000350310:R474H;ENSP00000356187:R474H;ENSP00000356188:R462H;ENSP00000375816:R474H;ENSP00000340930:R474H	ENSP00000340930:R474H	R	+	2	0	ATP2B4	201943719	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.828000	0.99408	2.598000	0.87819	0.462000	0.41574	CGC		0.507	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		A	203677096	G	A	203677096	3	1	523	1	0	0	0	0	1	0	0	0	1142	1087	38	1	1455	1	ATP2B4	1	203677096	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	6507929	203677096	45573525	9	27905											
MYT1L	23040	broad.mit.edu	37	2	1926644	1926644	+	Silent	SNP	G	G	A	rs377285450		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr2:1926644G>A	ENST00000399161.2	-	10	1644	c.897C>T	c.(895-897)taC>taT	p.Y299Y	MYT1L_ENST00000428368.2_Silent_p.Y299Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	299					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCAACATGACGTAATTCATAT	0.463																																																0								G		0,4224		0,0,2112	180	183	182		897	-3.6	0.1	2		182	2,8446		0,2,4222	no	coding-synonymous	MYT1L	NM_015025.2		0,2,6334	AA,AG,GG		0.0237,0.0,0.0158		299/1185	1926644	2,12670	2112	4224	6336	SO:0001819	synonymous_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.897C>T	2.37:g.1926644G>A			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37																																																																																					0.463	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		A	1926644	G	A	1926644	2	1	523	1	0	0	0	0	0	0	0	1	10109	1140	40	1		1	MYT1L	2	1926644	Silent	SNP	G	TCGA-CJ-4900-01A-01D-1462-08		1926644	241272729	10	27906											
MGAT5	4249	broad.mit.edu	37	2	135076308	135076308	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr2:135076308G>C	ENST00000409645.1	+	5	823	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	MGAT5_ENST00000281923.2_Missense_Mutation_p.E191Q			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	191					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTACCTCAGTGAGGTGAGTAG	0.453																																																0													133	128	130					2																	135076308		2203	4300	6503	SO:0001583	missense	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.571G>C	2.37:g.135076308G>C	ENSP00000386377:p.Glu191Gln		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744522	0.69418	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.54	5.54	0.83059	.	0.049932	0.85682	D	0.000000	T	0.74359	0.3706	L	0.48642	1.525	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	T	0.74899	-0.3507	9	0.56958	D	0.05	-29.0599	17.6539	0.88172	0.0:0.0:1.0:0.0	.	191	Q09328	MGT5A_HUMAN	Q	191	.	ENSP00000281923:E191Q	E	+	1	0	MGAT5	134792778	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.609000	0.88269	0.655000	0.94253	GAG		0.453	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		C	135076308	G	C	135076308	3	2	523	1	0	0	0	0	1	0	0	0	9550	1291	45	4	585	4	MGAT5	2	135076308	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	133149664	135076308	108123065	11	27907											
TTN	7273	broad.mit.edu	37	2	179552876	179552876	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr2:179552876C>G	ENST00000591111.1	-	125	31546	c.31322G>C	c.(31321-31323)aGa>aCa	p.R10441T	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9514T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R10758T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)			CTCCTCCTCTCTTTCTTCTTC	0.378																																																0													161	164	163					2																	179552876		1872	4093	5965	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31322G>C	2.37:g.179552876C>G	ENSP00000465570:p.Arg10441Thr		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.31	2.198670	0.38806	.	.	ENSG00000155657	ENST00000342992	T	0.62639	0.01	4.42	4.42	0.53409	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.47930	0.1472	L	0.29908	0.895	0.80722	D	1	B	0.31100	0.308	B	0.20955	0.032	T	0.54642	-0.8263	9	0.87932	D	0	.	12.6962	0.57005	0.0:1.0:0.0:0.0	.	10441	Q8WZ42	TITIN_HUMAN	T	9514	ENSP00000343764:R9514T	ENSP00000343764:R9514T	R	-	2	0	TTN	179261121	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.995000	0.29706	2.460000	0.83146	0.467000	0.42956	AGA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179552876	C	G	179552876	3	3	523	1	0	0	0	0	1	0	0	0	16740	913	32	4	72200	4	TTN	2	179552876	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	44476568	179552876	63646497	12	27908											
VHL	7428	broad.mit.edu	37	3	10191480	10191480	+	Missense_Mutation	SNP	T	T	A	rs121913346		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:10191480T>A	ENST00000256474.2	+	3	1313	c.473T>A	c.(472-474)cTg>cAg	p.L158Q	VHL_ENST00000345392.2_Missense_Mutation_p.L117Q|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158Q(6)|p.L158P(5)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158>?(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGTATACTCTGAAAGAGCGA	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(12)|Deletion - Frameshift(6)|Deletion - In frame(3)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)	kidney(24)	GRCh37	CI024083|CI962364|CM941379	VHL	I|M	rs121913346						89	82	84					3																	10191480		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.473T>A	3.37:g.10191480T>A	ENSP00000256474:p.Leu158Gln		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357927	0.61403	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99846	-7.13;-7.13	4.86	3.66	0.41972	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000003	D	0.99697	0.9885	M	0.75777	2.31	0.44373	D	0.997277	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97985	1.0351	10	0.87932	D	0	-5.6982	9.9953	0.41896	0.0:0.0:0.1705:0.8295	.	117;158	P40337-2;P40337	.;VHL_HUMAN	Q	158;117;76	ENSP00000256474:L158Q;ENSP00000344757:L117Q	ENSP00000256474:L158Q	L	+	2	0	VHL	10166480	1.000000	0.71417	0.991000	0.47740	0.618000	0.37518	5.790000	0.69038	0.947000	0.37659	0.533000	0.62120	CTG		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10191480	T	A	10191480	3	1	523	1	0	0	0	0	1	0	0	0	17167	1580	55	5	483	5	VHL	3	10191480	Missense_Mutation	SNP	T	TCGA-CJ-4900-01A-01D-1462-08		10191480	187830950	13	27909											
MORC1	27136	broad.mit.edu	37	3	108682370	108682370	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:108682370A>G	ENST00000483760.1	-	26	2670	c.2627T>C	c.(2626-2628)aTa>aCa	p.I876T	MORC1_ENST00000232603.5_Missense_Mutation_p.I897T					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCATTATGTATTCCTCTTGT	0.313																																																0													138	140	139					3																	108682370		2202	4300	6502	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2627T>C	3.37:g.108682370A>G	ENSP00000417282:p.Ile876Thr			Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	A	1.361	-0.588813	0.03799	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05996	3.37;3.36	5.04	1.06	0.20224	.	1.678270	0.03996	N	0.295720	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.40831	-0.9542	10	0.39692	T	0.17	-1.9929	3.2839	0.06925	0.6182:0.0:0.1891:0.1927	.	876;897	E7ERX1;Q86VD1	.;MORC1_HUMAN	T	897;876	ENSP00000232603:I897T;ENSP00000417282:I876T	ENSP00000232603:I897T	I	-	2	0	MORC1	110165060	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.138000	0.16016	0.033000	0.15463	0.482000	0.46254	ATA		0.313	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			G	108682370	A	G	108682370	3	3	523	1	0	0	0	0	1	0	0	0	9703	449	16	3	272	3	MORC1	3	108682370	Missense_Mutation	SNP	A	TCGA-CJ-4900-01A-01D-1462-08	98490890	108682370	89340060	14	27910											
CCDC52	152185	broad.mit.edu	37	3	113166965	113166965	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:113166965C>T	ENST00000295872.4	-	16	2605	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	782					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GAATAGATACCTCAATTGTCC	0.348																																																0													101	105	104					3																	113166965		2203	4300	6503	SO:0001819	synonymous_variant	152185			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2346G>A	3.37:g.113166965C>T			D3DN72|Q8WUX6	Silent	SNP	ENST00000295872.4	37	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	1.343	-0.593592	0.03771	.	.	ENSG00000163611	ENST00000467618	.	.	.	5.76	0.891	0.19224	.	.	.	.	.	T	0.53094	0.1775	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39375	-0.9617	4	.	.	.	-12.1942	6.0162	0.19605	0.0:0.5942:0.1256:0.2802	.	.	.	.	K	116	.	.	R	-	2	0	SPICE1	114649655	0.651000	0.27340	0.792000	0.32020	0.254000	0.26022	-0.194000	0.09559	-0.049000	0.13379	-0.794000	0.03295	AGG		0.348	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		T	113166965	C	T	113166965	2	4	523	1	0	0	0	0	0	0	0	1	2824	680	24	2		2	CCDC52	3	113166965	Silent	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	4484595	113166965	84855465	15	27911											
PIK3CB	5291	broad.mit.edu	37	3	138374292	138374292	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:138374292T>C	ENST00000477593.1	-	23	3225	c.3152A>G	c.(3151-3153)gAa>gGa	p.E1051G	PIK3CB_ENST00000544716.1_Missense_Mutation_p.E502G|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E1051G			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1051	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGTCCAGCTTTCCCTGAGCGC	0.423																																																0													127	118	121					3																	138374292		2203	4300	6503	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3152A>G	3.37:g.138374292T>C	ENSP00000418143:p.Glu1051Gly		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.22|12.22	1.871803|1.871803	0.33069|0.33069	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.80909|.	-1.43;-1.43;-1.43|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48943|0.48943	0.1528|0.1528	N|N	0.16098|0.16098	0.37|0.37	0.80722|0.80722	D|D	1|1	P;B;B|.	0.36909|.	0.573;0.23;0.181|.	B;B;B|.	0.30716|.	0.119;0.119;0.04|.	T|T	0.45716|0.45716	-0.9242|-0.9242	10|5	0.02654|.	T|.	1|.	-29.6367|-29.6367	15.8615|15.8615	0.79026|0.79026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1051;638;502|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	G|E	1051;502;1051|683	ENSP00000418143:E1051G;ENSP00000438259:E502G;ENSP00000289153:E1051G|.	ENSP00000289153:E1051G|.	E|K	-|-	2|1	0|0	PIK3CB|PIK3CB	139856982|139856982	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.868000|7.868000	0.87116|0.87116	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.423	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			C	138374292	T	C	138374292	3	2	523	1	0	0	0	0	1	0	0	0	11916	1783	62	3	62	3	PIK3CB	3	138374292	Missense_Mutation	SNP	T	TCGA-CJ-4900-01A-01D-1462-08	25207327	138374292	59648138	16	27912											
SPATA16	83893	broad.mit.edu	37	3	172835175	172835175	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:172835175G>A	ENST00000351008.3	-	2	530	c.347C>T	c.(346-348)cCc>cTc	p.P116L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	116					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.P116H(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GTTCTTTAAGGGGATGTGAGG	0.418																																																1	Substitution - Missense(1)	lung(1)											374	343	353					3																	172835175		2203	4300	6503	SO:0001583	missense	83893			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.347C>T	3.37:g.172835175G>A	ENSP00000341765:p.Pro116Leu		Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087280	0.76642	.	.	ENSG00000144962	ENST00000351008	T	0.28069	1.63	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000026	T	0.41949	0.1181	L	0.29908	0.895	0.53005	D	0.999968	D	0.63046	0.992	P	0.59357	0.856	T	0.28650	-1.0037	10	0.87932	D	0	-8.2831	17.5336	0.87820	0.0:0.0:1.0:0.0	.	116	Q9BXB7	SPT16_HUMAN	L	116	ENSP00000341765:P116L	ENSP00000341765:P116L	P	-	2	0	SPATA16	174317869	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.002000	0.57053	2.664000	0.90586	0.555000	0.69702	CCC		0.418	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		A	172835175	G	A	172835175	3	1	523	1	0	0	0	0	1	0	0	0	15006	1232	43	2	1402	2	SPATA16	3	172835175	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	34460883	172835175	25187255	17	27913											
CCDC112	153733	broad.mit.edu	37	5	114620527	114620527	+	5'UTR	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr5:114620527T>C	ENST00000512261.1	-	0	234				CCDC112_ENST00000506442.1_5'UTR|CCDC112_ENST00000395557.4_5'UTR|CCDC112_ENST00000379611.5_Missense_Mutation_p.K66E|CCDC112_ENST00000503027.1_Intron			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112											endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCTGCTTTCTTAGTCTGATTA	0.323																																																0													70	68	68					5																	114620527		2202	4300	6502	SO:0001623	5_prime_UTR_variant	153733			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.-183A>G	5.37:g.114620527T>C			Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162234	0.78226	.	.	ENSG00000164221	ENST00000379611	T	0.21361	2.01	5.57	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	.	.	.	0.80722	D	1	P	0.45474	0.859	B	0.43155	0.41	T	0.01266	-1.1401	9	0.45353	T	0.12	-19.0077	11.2047	0.48762	0.0:0.0718:0.0:0.9282	.	66	Q8NEF3-2	.	E	66	ENSP00000368931:K66E	ENSP00000368931:K66E	K	-	1	0	CCDC112	114648426	1.000000	0.71417	0.948000	0.38648	0.922000	0.55478	3.938000	0.56583	2.248000	0.74166	0.533000	0.62120	AAG		0.323	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		C	114620527	T	C	114620527	1	2	523	0	1	0	0	0	0	0	0	0	2751	1763	61	3		3	CCDC112	5	114620527	5'UTR	SNP	T	TCGA-CJ-4900-01A-01D-1462-08		114620527	66294733	18	27914											
DDX46	9879	broad.mit.edu	37	5	134113264	134113264	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr5:134113264A>T	ENST00000354283.4	+	6	749	c.614A>T	c.(613-615)gAt>gTt	p.D205V	DDX46_ENST00000452510.2_Splice_Site_p.D205V			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	205	Poly-Asp.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTATTTTAGATGACGAAGAT	0.408																																					Colon(13;391 453 4901 21675 24897)											0													114	116	115					5																	134113264		2203	4300	6503	SO:0001630	splice_region_variant	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.614-1A>T	5.37:g.134113264A>T			O94894|Q96EI0|Q9Y658	Splice_Site	SNP	ENST00000354283.4	37	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.762120	0.69763	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.23147	1.92;1.92	5.8	5.8	0.92144	.	0.047804	0.85682	D	0.000000	T	0.30916	0.0780	M	0.62723	1.935	0.80722	D	1	P	0.42518	0.782	B	0.40444	0.329	T	0.04307	-1.0961	9	.	.	.	.	16.1461	0.81569	1.0:0.0:0.0:0.0	.	205	Q7L014	DDX46_HUMAN	V	205	ENSP00000416534:D205V;ENSP00000346236:D205V	.	D	+	2	0	DDX46	134141163	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.090000	0.76916	2.219000	0.72066	0.533000	0.62120	GAT		0.408	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	Missense_Mutation	T	134113264	A	T	134113264	5	4	523	1	0	0	0	0	0	0	1	0	4366	347	12	5	636	5	DDX46	5	134113264	Splice_Site	SNP	A	TCGA-CJ-4900-01A-01D-1462-08	19492737	134113264	46801996	19	27915											
PCDHGB1	56104	broad.mit.edu	37	5	140731748	140731748	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr5:140731748G>A	ENST00000523390.1	+	1	1921	c.1921G>A	c.(1921-1923)Gct>Act	p.A641T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	641	Cadherin 6. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTGGTCGCTGTGCGTGA	0.692																																																0													29	34	32					5																	140731748		2034	4182	6216	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1921G>A	5.37:g.140731748G>A	ENSP00000429273:p.Ala641Thr		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.455269	0.43634	.	.	ENSG00000254221	ENST00000523390	T	0.57595	0.39	5.22	4.3	0.51218	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.19886	0.0478	N	0.01410	-0.885	0.20821	N	0.999841	P;P	0.42248	0.774;0.509	B;B	0.34242	0.178;0.106	T	0.00647	-1.1628	9	0.40728	T	0.16	.	6.5515	0.22436	0.1527:0.0:0.6942:0.1531	.	641;641	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	T	641	ENSP00000429273:A641T	ENSP00000429273:A641T	A	+	1	0	PCDHGB1	140711932	0.000000	0.05858	0.953000	0.39169	0.952000	0.60782	-0.472000	0.06623	2.611000	0.88343	0.561000	0.74099	GCT		0.692	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		A	140731748	G	A	140731748	3	1	523	1	0	0	0	0	1	0	0	0	11564	1087	38	1	1923	1	PCDHGB1	5	140731748	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	6618484	140731748	40183512	20	27916											
ABCF1	23	broad.mit.edu	37	6	30554452	30554452	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:30554452T>A	ENST00000326195.8	+	20	2107	c.1995T>A	c.(1993-1995)agT>agA	p.S665R	ABCF1_ENST00000376545.3_Missense_Mutation_p.S627R|ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	665	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGGGAAGAGTACGCTACTCC	0.547																																																0													166	125	140					6																	30554452		1511	2709	4220	SO:0001583	missense	23			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1995T>A	6.37:g.30554452T>A	ENSP00000313603:p.Ser665Arg		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886580	0.51908	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	D;D	0.97870	-4.58;-4.58	5.63	2.47	0.30058	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97734	1.0204	10	0.87932	D	0	-20.5139	5.5363	0.17013	0.0:0.4653:0.0:0.5347	.	627;665	Q2L6I2;Q8NE71	.;ABCF1_HUMAN	R	665;627	ENSP00000313603:S665R;ENSP00000365728:S627R	ENSP00000313603:S665R	S	+	3	2	ABCF1	30662431	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	0.562000	0.23531	0.720000	0.32209	-0.375000	0.07067	AGT		0.547	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			A	30554452	T	A	30554452	3	1	523	1	0	0	0	0	1	0	0	0	65	1635	57	5	2073	5	ABCF1	6	30554452	Missense_Mutation	SNP	T	TCGA-CJ-4900-01A-01D-1462-08		30554452	140560615	21	27917											
CFB	629	broad.mit.edu	37	6	31914008	31914008	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:31914008A>G	ENST00000425368.2	+	1	523	c.10A>G	c.(10-12)Aat>Gat	p.N4D	CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	4					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CATGGGGAGCAATCTCAGCCC	0.587																																																0													194	162	174					6																	31914008		1510	2709	4219	SO:0001583	missense	629			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.10A>G	6.37:g.31914008A>G	ENSP00000416561:p.Asn4Asp		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535675	0.27475	.	.	ENSG00000243649	ENST00000475617;ENST00000425368	T;T	0.80566	2.41;-1.39	4.94	-0.388	0.12459	.	2.570310	0.01561	N	0.020131	T	0.39759	0.1090	N	0.08118	0	0.09310	N	0.999996	B;B;B	0.17667	0.016;0.023;0.002	B;B;B	0.13407	0.004;0.007;0.009	T	0.30416	-0.9979	10	0.37606	T	0.19	7.8174	4.1633	0.10295	0.4552:0.3531:0.1917:0.0	.	4;4;4	B4E1Z1;P00751;P00751-2	.;CFAB_HUMAN;.	D	4	ENSP00000420090:N4D;ENSP00000416561:N4D	ENSP00000416561:N4D	N	+	1	0	CFB	32021987	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	0.152000	0.16302	-0.054000	0.13266	0.383000	0.25322	AAT		0.587	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		G	31914008	A	G	31914008	3	3	523	1	0	0	0	0	1	0	0	0	3280	130	5	3	12	3	CFB	6	31914008	Missense_Mutation	SNP	A	TCGA-CJ-4900-01A-01D-1462-08	1359556	31914008	139201059	22	27918											
NOTCH4	4855	broad.mit.edu	37	6	32164148	32164148	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:32164148G>A	ENST00000375023.3	-	29	5389	c.5251C>T	c.(5251-5253)Cgc>Tgc	p.R1751C	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1751					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAAGCGAGCGGGCGGCTCGG	0.627																																																0													116	132	126					6																	32164148		1509	2708	4217	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5251C>T	6.37:g.32164148G>A	ENSP00000364163:p.Arg1751Cys		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873180	0.72180	.	.	ENSG00000204301	ENST00000375023	T	0.66815	-0.23	4.43	2.46	0.29980	Ankyrin repeat-containing domain (4);	0.178404	0.27315	N	0.019928	T	0.66674	0.2813	M	0.76328	2.33	0.80722	D	1	D;D;D	0.76494	0.963;0.992;0.999	P;P;P	0.60609	0.47;0.86;0.877	T	0.68416	-0.5414	10	0.52906	T	0.07	.	6.8034	0.23764	0.0:0.171:0.477:0.352	.	160;1751;1750	B4DEL8;Q99466;B0S882	.;NOTC4_HUMAN;.	C	1751	ENSP00000364163:R1751C	ENSP00000364163:R1751C	R	-	1	0	NOTCH4	32272126	0.009000	0.17119	1.000000	0.80357	0.985000	0.73830	-0.302000	0.08221	1.193000	0.43086	0.563000	0.77884	CGC		0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			A	32164148	G	A	32164148	3	1	523	1	0	0	0	0	1	0	0	0	10553	1116	39	1	768	1	NOTCH4	6	32164148	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	250140	32164148	138950919	23	27919											
ITPR3	3710	broad.mit.edu	37	6	33630395	33630395	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:33630395A>G	ENST00000374316.5	+	9	1862	c.802A>G	c.(802-804)Aca>Gca	p.T268A	ITPR3_ENST00000605930.1_Missense_Mutation_p.T268A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	268	Inositol 1,4,5-trisphosphate binding. {ECO:0000250}.|MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCTGCGAACTACACTGCGCCA	0.612																																																0													97	76	83					6																	33630395		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.802A>G	6.37:g.33630395A>G	ENSP00000363435:p.Thr268Ala		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709764	0.68730	.	.	ENSG00000096433	ENST00000374316	D	0.92752	-3.1	5.61	5.61	0.85477	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.96383	0.8820	M	0.89601	3.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97282	0.9918	10	0.87932	D	0	-23.7825	15.7952	0.78404	1.0:0.0:0.0:0.0	.	268	Q14573	ITPR3_HUMAN	A	268	ENSP00000363435:T268A	ENSP00000363435:T268A	T	+	1	0	ITPR3	33738373	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	9.332000	0.96446	2.138000	0.66242	0.260000	0.18958	ACA		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		G	33630395	A	G	33630395	3	3	523	1	0	0	0	0	1	0	0	0	7924	391	14	3	832	3	ITPR3	6	33630395	Missense_Mutation	SNP	A	TCGA-CJ-4900-01A-01D-1462-08	1466247	33630395	137484672	24	27920											
ZNF318	24149	broad.mit.edu	37	6	43333135	43333135	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:43333135A>C	ENST00000361428.2	-	2	520	c.443T>G	c.(442-444)tTa>tGa	p.L148*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.L148*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	148					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGTGATCCTTAAGCTCTTTTC	0.468																																																0													96	92	93					6																	43333135		2203	4300	6503	SO:0001587	stop_gained	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.443T>G	6.37:g.43333135A>C	ENSP00000354964:p.Leu148*		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	a	37	6.025574	0.97216	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.29	5.29	0.74685	.	0.000000	0.32901	N	0.005505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7331	13.8137	0.63278	1.0:0.0:0.0:0.0	.	.	.	.	X	148	.	ENSP00000323032:L148X	L	-	2	0	ZNF318	43441113	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.666000	0.68059	2.007000	0.58848	0.449000	0.29647	TTA		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		C	43333135	A	C	43333135	4	2	523	1	0	0	0	0	0	1	0	0	17841	372	13	5	6432	5	ZNF318	6	43333135	Nonsense_Mutation	SNP	A	TCGA-CJ-4900-01A-01D-1462-08	9702740	43333135	127781932	25	27921											
HCRTR2	3062	broad.mit.edu	37	6	55119936	55119936	+	Silent	SNP	C	C	T	rs199900684		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:55119936C>T	ENST00000370862.3	+	3	741	c.405C>T	c.(403-405)acC>acT	p.T135T		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	135					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTCTAGACCGTGTCGGTGT	0.408																																																0													99	89	92					6																	55119936		2203	4300	6503	SO:0001819	synonymous_variant	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.405C>T	6.37:g.55119936C>T			Q5VTM0	Silent	SNP	ENST00000370862.3	37	CCDS4956.1																																																																																				0.408	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			T	55119936	C	T	55119936	2	4	523	1	0	0	0	0	0	0	0	1	7004	639	23	1		1	HCRTR2	6	55119936	Silent	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	11786801	55119936	115995131	26	27922											
MYO6	4646	broad.mit.edu	37	6	76599869	76599869	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:76599869G>T	ENST00000369977.3	+	26	2893	c.2754G>T	c.(2752-2754)caG>caT	p.Q918H	MYO6_ENST00000369975.1_Missense_Mutation_p.Q918H|MYO6_ENST00000369981.3_Missense_Mutation_p.Q918H|MYO6_ENST00000369985.4_Missense_Mutation_p.Q918H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	918					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAAAAAAACAGCAGGAAGAGG	0.408																																																0													85	91	89					6																	76599869		2203	4300	6503	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2754G>T	6.37:g.76599869G>T	ENSP00000358994:p.Gln918His		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546200	0.45383	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.68765	2.15;2.39;2.39;-0.35	5.98	3.91	0.45181	.	0.296487	0.37348	N	0.002133	T	0.50463	0.1617	M	0.61703	1.905	0.48696	D	0.999699	B;P	0.35656	0.226;0.514	B;B	0.37239	0.244;0.244	T	0.60398	-0.7271	10	0.62326	D	0.03	.	9.948	0.41621	0.2764:0.0:0.7236:0.0	.	918;918	Q9UM54-2;Q9UM54-1	.;.	H	918	ENSP00000358998:Q918H;ENSP00000359002:Q918H;ENSP00000358994:Q918H;ENSP00000358992:Q918H	ENSP00000358992:Q918H	Q	+	3	2	MYO6	76656589	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.740000	0.38228	1.552000	0.49463	0.591000	0.81541	CAG		0.408	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		T	76599869	G	T	76599869	3	4	523	1	0	0	0	0	1	0	0	0	10083	962	34	4	2852	4	MYO6	6	76599869	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	21479933	76599869	94515198	27	27923											
NKAIN2	154215	broad.mit.edu	37	6	124979412	124979412	+	Silent	SNP	G	G	A	rs142736368	byFrequency	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:124979412G>A	ENST00000368417.1	+	4	414	c.354G>A	c.(352-354)acG>acA	p.T118T	NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000368416.1_Silent_p.T118T|NKAIN2_ENST00000545433.1_Silent_p.T103T	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GTACGGTGACGTCAGTGACAC	0.488													G|||	3	0.000599042	0.0015	0.0	5008	,	,		17532	0.0		0.0	False		,,,				2504	0.001															0								G	,	7,4399	12.9+/-30.5	0,7,2196	164	139	147		354,	-6.1	1	6	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous,intron	NKAIN2	NM_001040214.1,NM_153355.3	,	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	,	118/209,	124979412	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	154215			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"Na+/K+ transporting ATPase interacting"	16443	protein-coding gene	gene with protein product		609758	"T-cell lymphoma breakpoint associated target 1"	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.354G>A	6.37:g.124979412G>A			Q8IYR4|Q8TF67	Silent	SNP	ENST00000368417.1	37	CCDS34526.1																																																																																				0.488	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		A	124979412	G	A	124979412	2	1	523	1	0	0	0	0	0	0	0	1	10438	1132	40	1		1	NKAIN2	6	124979412	Silent	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	48379543	124979412	46135655	28	27924											
NAMPT	10135	broad.mit.edu	37	7	105902044	105902044	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:105902044G>T	ENST00000222553.3	-	8	1386	c.1079C>A	c.(1078-1080)aCc>aAc	p.T360N	NAMPT_ENST00000354289.4_Missense_Mutation_p.T360N	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	360					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CTCTTGTAAGGTATTAATATC	0.289																																																0													68	71	70					7																	105902044		2203	4297	6500	SO:0001583	missense	10135			U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"visfatin"	608764	"pre-B-cell colony enhancing factor 1"	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.1079C>A	7.37:g.105902044G>T	ENSP00000222553:p.Thr360Asn		A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091331	0.76756	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	.	.	.	5.2	5.2	0.72013	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.046594	0.85682	D	0.000000	T	0.71230	0.3315	M	0.67953	2.075	0.80722	D	1	P;P	0.48998	0.61;0.918	B;P	0.51866	0.373;0.682	T	0.68526	-0.5385	9	0.29301	T	0.29	2.2096	19.1015	0.93276	0.0:0.0:1.0:0.0	.	341;360	Q5SYT8;P43490	.;NAMPT_HUMAN	N	360	.	ENSP00000222553:T360N	T	-	2	0	NAMPT	105689280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.567000	0.86603	0.650000	0.86243	ACC		0.289	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		T	105902044	G	T	105902044	3	4	523	1	0	0	0	0	1	0	0	0	10151	1261	44	4	412	4	NAMPT	7	105902044	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08		105902044	53236619	29	27925											
KCND2	3751	broad.mit.edu	37	7	119914985	119914985	+	Missense_Mutation	SNP	G	G	A	rs377746178		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:119914985G>A	ENST00000331113.4	+	1	1264	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	100					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AATTTCTACCGCACTGGGAAG	0.522																																																0													142	143	142					7																	119914985		2203	4300	6503	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.299G>A	7.37:g.119914985G>A	ENSP00000333496:p.Arg100His		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840334	0.91117	.	.	ENSG00000184408	ENST00000331113	T	0.55760	0.5	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86200	0.1618	9	.	.	.	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	100	Q9NZV8	KCND2_HUMAN	H	100	ENSP00000333496:R100H	.	R	+	2	0	KCND2	119702221	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.062000	0.89475	2.709000	0.92574	0.655000	0.94253	CGC		0.522	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		A	119914985	G	A	119914985	3	1	523	1	0	0	0	0	1	0	0	0	8021	1087	38	1	301	1	KCND2	7	119914985	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	14012941	119914985	39223678	30	27926											
SPAM1	6677	broad.mit.edu	37	7	123599958	123599958	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:123599958C>A	ENST00000439500.1	+	6	2078	c.1465C>A	c.(1465-1467)Cta>Ata	p.L489I	SPAM1_ENST00000460182.1_Missense_Mutation_p.L489I|SPAM1_ENST00000223028.7_Missense_Mutation_p.L489I|SPAM1_ENST00000402183.2_Missense_Mutation_p.L489I|SPAM1_ENST00000340011.5_Missense_Mutation_p.L489I	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	489					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCCTCCACACTATCTGCCAC	0.378																																																0													123	115	118					7																	123599958		2203	4300	6503	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1465C>A	7.37:g.123599958C>A	ENSP00000402123:p.Leu489Ile		Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.808874	0.00606	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.16743	2.39;2.39;2.32;2.39;2.39	3.25	-6.5	0.01884	.	31.601800	0.00166	N	0.000000	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.32428	-0.9907	10	0.10636	T	0.68	7.3509	0.3906	0.00409	0.3428:0.2637:0.1808:0.2127	.	489;489	Q8TC30;P38567	.;HYALP_HUMAN	I	489	ENSP00000386028:L489I;ENSP00000417934:L489I;ENSP00000345849:L489I;ENSP00000402123:L489I;ENSP00000223028:L489I	ENSP00000223028:L489I	L	+	1	2	SPAM1	123387194	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.411000	0.02478	-3.895000	0.00094	-2.335000	0.00248	CTA		0.378	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123599958	C	A	123599958	3	1	523	1	0	0	0	0	1	0	0	0	14992	564	20	4	1475	4	SPAM1	7	123599958	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	3684973	123599958	35538705	31	27927											
RBM28	55131	broad.mit.edu	37	7	127963594	127963594	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:127963594C>T	ENST00000223073.2	-	13	1504	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	RBM28_ENST00000415472.2_Missense_Mutation_p.A323T|RBM28_ENST00000481788.1_5'Flank	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	464					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTCTTTTGGCCATATCAGCA	0.458																																																0													242	217	225					7																	127963594		2203	4300	6503	SO:0001583	missense	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1390G>A	7.37:g.127963594C>T	ENSP00000223073:p.Ala464Thr		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853987	0.51270	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.20881	2.98;2.04	6.08	6.08	0.98989	.	0.153182	0.56097	D	0.000022	T	0.22322	0.0538	L	0.52905	1.665	0.58432	D	0.999999	B;B;B	0.28512	0.024;0.214;0.024	B;B;B	0.20767	0.025;0.031;0.016	T	0.03060	-1.1077	10	0.18710	T	0.47	-12.2632	18.1573	0.89696	0.0:1.0:0.0:0.0	.	323;464;323	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	T	464;323	ENSP00000223073:A464T;ENSP00000390517:A323T	ENSP00000223073:A464T	A	-	1	0	RBM28	127750830	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.764000	0.55264	2.894000	0.99253	0.655000	0.94253	GCC		0.458	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		T	127963594	C	T	127963594	3	4	523	1	0	0	0	0	1	0	0	0	13134	739	26	2	917	2	RBM28	7	127963594	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	4363636	127963594	31175069	32	27928											
MGAM	8972	broad.mit.edu	37	7	141756645	141756645	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:141756645C>T	ENST00000549489.2	+	30	3691	c.3596C>T	c.(3595-3597)cCc>cTc	p.P1199L	MGAM_ENST00000475668.2_Missense_Mutation_p.P1199L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1199	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACGTTCCAGCCCCTGCCTGCC	0.512																																																0													79	79	79					7																	141756645		1979	4156	6135	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3596C>T	7.37:g.141756645C>T	ENSP00000447378:p.Pro1199Leu		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851860	0.71719	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.84944	-1.92	4.17	4.17	0.49024	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.35772	N	0.003000	D	0.94650	0.8275	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96431	0.9319	10	0.87932	D	0	.	15.2099	0.73214	0.0:1.0:0.0:0.0	.	1199	O43451	MGA_HUMAN	L	1199;1199;1076	ENSP00000447378:P1199L	ENSP00000316431:P1076L	P	+	2	0	MGAM	141403114	1.000000	0.71417	0.923000	0.36655	0.587000	0.36485	7.716000	0.84723	1.857000	0.53885	0.313000	0.20887	CCC		0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			T	141756645	C	T	141756645	3	4	523	1	0	0	0	0	1	0	0	0	9543	623	22	2	3710	2	MGAM	7	141756645	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	13793051	141756645	17382018	33	27929											
WRN	7486	broad.mit.edu	37	8	30948045	30948045	+	Missense_Mutation	SNP	A	A	G	rs150148567	byFrequency	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr8:30948045A>G	ENST00000298139.5	+	14	1966	c.1717A>G	c.(1717-1719)Act>Gct	p.T573A		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	573	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGTCATGGCAACTGGTAAGTT	0.294			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				A|||	2	0.000399361	0.0	0.0	5008	,	,		14974	0.0		0.002	False		,,,				2504	0.0				Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0								A	ALA/THR	3,4403	6.2+/-15.9	0,3,2200	66	72	70		1717	5.6	1	8	dbSNP_134	70	24,8550	17.9+/-57.8	0,24,4263	yes	missense	WRN	NM_000553.4	58	0,27,6463	GG,GA,AA		0.2799,0.0681,0.208	probably-damaging	573/1433	30948045	27,12953	2203	4287	6490	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1717A>G	8.37:g.30948045A>G	ENSP00000298139:p.Thr573Ala		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	A	23.4	4.415598	0.83449	6.81E-4	0.002799	ENSG00000165392	ENST00000298139	T	0.34859	1.34	5.62	5.62	0.85841	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82246	-0.0552	10	0.87932	D	0	-24.994	15.4842	0.75551	1.0:0.0:0.0:0.0	.	573	Q14191	WRN_HUMAN	A	573	ENSP00000298139:T573A	ENSP00000298139:T573A	T	+	1	0	WRN	31067587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.239000	0.78182	2.146000	0.66826	0.528000	0.53228	ACT		0.294	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			G	30948045	A	G	30948045	3	3	523	1	0	0	0	0	1	0	0	0	17407	43	2	3	1767	3	WRN	8	30948045	Missense_Mutation	SNP	A	TCGA-CJ-4900-01A-01D-1462-08		30948045	115415977	34	27930											
ANKRD46	157567	broad.mit.edu	37	8	101541853	101541853	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr8:101541853T>G	ENST00000520552.1	-	3	370	c.209A>C	c.(208-210)gAt>gCt	p.D70A	ANKRD46_ENST00000335659.3_Missense_Mutation_p.D70A|ANKRD46_ENST00000519597.1_Missense_Mutation_p.D70A|ANKRD46_ENST00000520311.1_Missense_Mutation_p.D70A|ANKRD46_ENST00000519316.1_Missense_Mutation_p.D70A	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	70						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GGCCAGAAGATCGGCACCGAA	0.463																																																0													132	119	124					8																	101541853		2203	4300	6503	SO:0001583	missense	157567			AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"Ankyrin repeat domain containing"	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.209A>C	8.37:g.101541853T>G	ENSP00000429015:p.Asp70Ala		Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762311	0.89932	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.42900	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.96;0.96	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.78456	2.415	0.80722	D	1	D;D	0.69078	0.988;0.997	D;D	0.81914	0.932;0.995	T	0.69198	-0.5208	10	0.56958	D	0.05	-29.6304	16.1138	0.81283	0.0:0.0:0.0:1.0	.	70;70	Q86W74-2;Q86W74	.;ANR46_HUMAN	A	70	ENSP00000429015:D70A;ENSP00000335287:D70A;ENSP00000430056:D70A;ENSP00000428388:D70A;ENSP00000430827:D70A;ENSP00000351881:D70A;ENSP00000430357:D70A;ENSP00000430800:D70A;ENSP00000429647:D70A	ENSP00000335287:D70A	D	-	2	0	ANKRD46	101611029	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.570000	0.82390	2.220000	0.72140	0.533000	0.62120	GAT		0.463	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		G	101541853	T	G	101541853	3	3	523	1	0	0	0	0	1	0	0	0	674	1435	50	5	489	5	ANKRD46	8	101541853	Missense_Mutation	SNP	T	TCGA-CJ-4900-01A-01D-1462-08	70593808	101541853	44822169	35	27931											
ELAVL2	1993	broad.mit.edu	37	9	23704955	23704955	+	Missense_Mutation	SNP	G	G	A	rs568766646		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr9:23704955G>A	ENST00000397312.2	-	4	722	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	ELAVL2_ENST00000223951.6_Missense_Mutation_p.R150C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R179C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R150C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R150C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	150	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTAATAATGCGTCCATATTGT	0.428																																																0													167	152	157					9																	23704955		2203	4300	6503	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.448C>T	9.37:g.23704955G>A	ENSP00000380479:p.Arg150Cys		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030157	0.93575	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.36520	1.25;2.31;2.31;2.31;1.25;2.31	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.996	D;P	0.62955	0.909;0.776	T	0.59139	-0.7510	10	0.87932	D	0	.	19.8638	0.96797	0.0:0.0:1.0:0.0	.	150;150	Q12926;Q12926-2	ELAV2_HUMAN;.	C	150;150;150;150;150;178;15;150	ENSP00000223951:R150C;ENSP00000380479:R150C;ENSP00000440998:R150C;ENSP00000369460:R150C;ENSP00000391757:R15C;ENSP00000412602:R150C	ENSP00000223951:R150C	R	-	1	0	ELAVL2	23694955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.450000	0.97607	2.704000	0.92352	0.655000	0.94253	CGC		0.428	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		A	23704955	G	A	23704955	3	1	523	1	0	0	0	0	1	0	0	0	5052	1145	40	1	647	1	ELAVL2	9	23704955	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08		23704955	117508476	36	27932											
SMU1	55234	broad.mit.edu	37	9	33073796	33073796	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr9:33073796C>T	ENST00000397149.3	-	2	85	c.35G>A	c.(34-36)cGc>cAc	p.R12H	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	12	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATAATAAGGCGGATCACACT	0.443																																																0													73	69	70					9																	33073796		2203	4300	6503	SO:0001583	missense	55234			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.35G>A	9.37:g.33073796C>T	ENSP00000380336:p.Arg12His		B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	37	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055897	0.76074	.	.	ENSG00000122692	ENST00000397149	T	0.65732	-0.17	5.35	5.35	0.76521	LisH dimerisation motif (2);	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	M	0.93283	3.4	0.80722	D	1	P;P	0.42871	0.792;0.792	B;B	0.37304	0.246;0.246	T	0.81459	-0.0923	10	0.87932	D	0	-16.7506	16.9282	0.86182	0.0:1.0:0.0:0.0	.	12;12	A0MNN4;Q2TAY7	.;SMU1_HUMAN	H	12	ENSP00000380336:R12H	ENSP00000380336:R12H	R	-	2	0	SMU1	33063796	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	7.598000	0.82745	2.662000	0.90505	0.563000	0.77884	CGC		0.443	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		T	33073796	C	T	33073796	3	4	523	1	0	0	0	0	1	0	0	0	14823	768	27	1	1550	1	SMU1	9	33073796	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	9368841	33073796	108139635	37	27933											
TLE1	7088	broad.mit.edu	37	9	84267197	84267197	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr9:84267197G>C	ENST00000376499.3	-	6	1368	c.304C>G	c.(304-306)Caa>Gaa	p.Q102E	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Missense_Mutation_p.Q46E	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	102	Gln-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCACCTGTTGTTGATGCTTT	0.463																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)											0													170	146	154					9																	84267197		2203	4300	6503	SO:0001583	missense	7088				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.304C>G	9.37:g.84267197G>C	ENSP00000365682:p.Gln102Glu		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924502	0.73213	.	.	ENSG00000196781	ENST00000376499;ENST00000355002;ENST00000418319;ENST00000376463	T;T;T	0.54279	0.58;1.12;0.65	5.73	5.73	0.89815	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	M	0.93763	3.455	0.80722	D	1	D;B;D;B;P;B	0.62365	0.963;0.24;0.991;0.278;0.74;0.131	D;B;D;B;P;B	0.68621	0.959;0.282;0.959;0.35;0.651;0.375	D	0.85061	0.0934	10	0.87932	D	0	-13.4445	19.9017	0.96988	0.0:0.0:1.0:0.0	.	102;102;102;129;102;102	B4E345;B4DEF9;A6NFH2;Q59EF7;Q5T3G3;Q04724	.;.;.;.;.;TLE1_HUMAN	E	102;102;102;46	ENSP00000365682:Q102E;ENSP00000391347:Q102E;ENSP00000365646:Q46E	ENSP00000347102:Q102E	Q	-	1	0	TLE1	83457017	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.707000	0.92482	0.561000	0.74099	CAA		0.463	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		C	84267197	G	C	84267197	3	2	523	1	0	0	0	0	1	0	0	0	15943	1386	48	4	2068	4	TLE1	9	84267197	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	51193401	84267197	56946234	38	27934											
C1QL3	389941	broad.mit.edu	37	10	16562527	16562527	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:16562527G>A	ENST00000298943.3	-	1	1477	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	180	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCCCCTCCGCGCATCAGGACG	0.657																																																0													84	84	84					10																	16562527		2203	4300	6503	SO:0001583	missense	389941				CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.538C>T	10.37:g.16562527G>A	ENSP00000298943:p.Arg180Cys		A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942651	0.53079	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.23147	1.92	4.05	4.05	0.47172	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.194116	0.42420	D	0.000716	T	0.49321	0.1550	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.49670	-0.8915	10	0.42905	T	0.14	.	11.634	0.51192	0.0:0.0:0.8222:0.1778	.	180	Q5VWW1	C1QL3_HUMAN	C	180;157	ENSP00000298943:R180C	ENSP00000298943:R180C	R	-	1	0	C1QL3	16602533	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.246000	0.58740	2.245000	0.73994	0.637000	0.83480	CGC		0.657	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		A	16562527	G	A	16562527	3	1	523	1	0	0	0	0	1	0	0	0	1962	1087	38	1	237	1	C1QL3	10	16562527	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08		16562527	118972220	39	27935											
KIF5B	3799	broad.mit.edu	37	10	32320187	32320187	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:32320187C>G	ENST00000302418.4	-	14	1852	c.1395G>C	c.(1393-1395)agG>agC	p.R465S		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	465					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGTCTTGATCCCTTCTGGTAG	0.378			T	"RET, ALK"	NSCLC																																		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													84	79	81					10																	32320187		2203	4300	6503	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1395G>C	10.37:g.32320187C>G	ENSP00000307078:p.Arg465Ser		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342833	0.41498	.	.	ENSG00000170759	ENST00000302418	D	0.85861	-2.04	6.17	-0.124	0.13523	.	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	L	0.60067	1.865	0.49389	D	0.999789	B	0.29301	0.241	B	0.35607	0.206	T	0.71013	-0.4715	10	0.35671	T	0.21	.	10.2909	0.43594	0.0:0.5305:0.0:0.4695	.	465	P33176	KINH_HUMAN	S	465	ENSP00000307078:R465S	ENSP00000307078:R465S	R	-	3	2	KIF5B	32360193	0.048000	0.20356	0.989000	0.46669	0.999000	0.98932	-0.677000	0.05215	-0.277000	0.09193	0.655000	0.94253	AGG		0.378	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		G	32320187	C	G	32320187	3	3	523	1	0	0	0	0	1	0	0	0	8308	622	22	4	1544	4	KIF5B	10	32320187	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	15757660	32320187	103214560	40	27936											
UNC5B	219699	broad.mit.edu	37	10	73053294	73053294	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:73053294T>A	ENST00000335350.6	+	12	2321	c.1905T>A	c.(1903-1905)ttT>ttA	p.F635L	UNC5B_ENST00000373192.4_Missense_Mutation_p.F624L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	635	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACTGGATCTTTCAGCTCAAGA	0.657																																																0													80	80	80					10																	73053294		2203	4300	6503	SO:0001583	missense	219699			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1905T>A	10.37:g.73053294T>A	ENSP00000334329:p.Phe635Leu		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	T	8.653	0.898810	0.17686	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.39406	1.08;1.08	4.9	3.0	0.34707	ZU5 (3);	0.203652	0.43747	D	0.000533	T	0.14485	0.0350	N	0.04162	-0.26	0.41207	D	0.986414	B;B	0.13145	0.005;0.007	B;B	0.13407	0.005;0.009	T	0.09930	-1.0652	10	0.07175	T	0.84	-28.9949	2.8432	0.05535	0.1446:0.5523:0.1407:0.1625	.	624;635	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	L	635;624	ENSP00000334329:F635L;ENSP00000362288:F624L	ENSP00000334329:F635L	F	+	3	2	UNC5B	72723300	1.000000	0.71417	0.997000	0.53966	0.737000	0.42083	1.576000	0.36504	0.450000	0.26774	-0.464000	0.05259	TTT		0.657	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		A	73053294	T	A	73053294	3	1	523	1	0	0	0	0	1	0	0	0	16997	1780	62	5	1951	5	UNC5B	10	73053294	Missense_Mutation	SNP	T	TCGA-CJ-4900-01A-01D-1462-08	40733107	73053294	62481453	41	27937											
CPXM2	119587	broad.mit.edu	37	10	125516758	125516758	+	Missense_Mutation	SNP	G	G	A	rs368753397		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:125516758G>A	ENST00000241305.3	-	12	2042	c.1888C>T	c.(1888-1890)Cgg>Tgg	p.R630W	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	630					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGAGATTCCCGGTTATTCTCC	0.537																																																0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	160	129	139		1888	4.7	1	10		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPXM2	NM_198148.2	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	630/757	125516758	2,13004	2203	4300	6503	SO:0001583	missense	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1888C>T	10.37:g.125516758G>A	ENSP00000241305:p.Arg630Trp		B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072794	0.93950	2.27E-4	1.16E-4	ENSG00000121898	ENST00000368854;ENST00000241305;ENST00000540123;ENST00000418782	T	0.10288	2.89	4.71	4.71	0.59529	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57027	-0.7881	10	0.87932	D	0	-15.7377	17.8735	0.88818	0.0:0.0:1.0:0.0	.	630	Q8N436	CPXM2_HUMAN	W	126;630;463;605	ENSP00000241305:R630W	ENSP00000241305:R630W	R	-	1	2	CPXM2	125506748	1.000000	0.71417	0.981000	0.43875	0.880000	0.50808	6.374000	0.73132	2.432000	0.82394	0.650000	0.86243	CGG		0.537	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		A	125516758	G	A	125516758	3	1	523	1	0	0	0	0	1	0	0	0	3840	1115	39	1	394	1	CPXM2	10	125516758	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	52463464	125516758	10017989	42	27938											
OR5P2	120065	broad.mit.edu	37	11	7818172	7818172	+	Silent	SNP	G	G	A	rs140285767		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:7818172G>A	ENST00000329434.2	-	1	348	c.318C>T	c.(316-318)gtC>gtT	p.V106V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGACGCATTCGACTGTTGCAA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		18179	0.0		0.0	False		,,,				2504	0.001															0								G		0,4208		0,0,2104	96	112	107		318	-1	0	11	dbSNP_134	107	1,8583		0,1,4291	no	coding-synonymous	OR5P2	NM_153444.1		0,1,6395	AA,AG,GG		0.0116,0.0,0.0078		106/323	7818172	1,12791	2104	4292	6396	SO:0001819	synonymous_variant	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.318C>T	11.37:g.7818172G>A			Q3MIS8	Silent	SNP	ENST00000329434.2	37	CCDS7782.1																																																																																				0.493	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		A	7818172	G	A	7818172	2	1	523	1	0	0	0	0	0	0	0	1	11180	1045	37	1		1	OR5P2	11	7818172	Silent	SNP	G	TCGA-CJ-4900-01A-01D-1462-08		7818172	127188344	43	27939											
SPON1	10418	broad.mit.edu	37	11	14063144	14063144	+	RNA	SNP	C	C	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:14063144C>A	ENST00000310358.7	+	0	960							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CGGAGGAGGACCCGGATCCAG	0.468																																																0													128	130	130					11																	14063144		1931	4135	6066			10418			AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"spondin 1, (f-spondin) extracellular matrix protein"			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14063144C>A			A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37		.	.	.	.	.	.	.	.	.	.	C	19.38	3.815989	0.70912	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.01	5.01	0.66863	Reeler domain (2);	0.121839	0.53938	D	0.000046	T	0.64472	0.2601	M	0.69248	2.105	0.58432	D	0.999999	B	0.28082	0.2	B	0.32533	0.147	T	0.72371	-0.4314	8	0.62326	D	0.03	.	16.1804	0.81895	0.0:1.0:0.0:0.0	.	141	Q9HCB6	SPON1_HUMAN	N	141	.	ENSP00000309297:T141N	T	+	2	0	SPON1	14019720	0.999000	0.42202	0.977000	0.42913	0.986000	0.74619	4.260000	0.58835	2.476000	0.83614	0.655000	0.94253	ACC		0.468	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		A	14063144	C	A	14063144	1	1	523	0	1	0	0	0	0	0	0	0	15087	507	18	4		4	SPON1	11	14063144	RNA	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	6244972	14063144	120943372	44	27940											
C11orf41	25758	broad.mit.edu	37	11	33596381	33596381	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:33596381C>T	ENST00000321505.4	+	9	3653	c.3473C>T	c.(3472-3474)gCc>gTc	p.A1158V	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A1164V|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1164V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1158						integral component of membrane (GO:0016021)											CAAAGGATGGCCTTGACCCTT	0.468																																																0													149	147	147					11																	33596381		2033	4193	6226	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3473C>T	11.37:g.33596381C>T	ENSP00000315295:p.Ala1158Val		B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.439346|5.439346	0.96168|0.96168	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82618|0.82618	0.5076|0.5076	M|M	0.83012|0.83012	2.62|2.62	0.51482|0.51482	D|D	0.999926|0.999926	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.83162|0.83162	-0.0098|-0.0098	9|5	0.87932|.	D|.	0|.	-23.0648|-23.0648	19.6091|19.6091	0.95594|0.95594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1164;1164|.	E9PAT2;Q6ZVL6-2|.	.;.|.	V|S	1158;1164;1164;997|556	.|.	ENSP00000265654:A1164V|.	A|P	+|+	2|1	0|0	C11orf41|C11orf41	33552957|33552957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.476000|7.476000	0.81055|0.81055	2.650000|2.650000	0.89964|0.89964	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.468	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		T	33596381	C	T	33596381	3	4	523	1	0	0	0	0	1	0	0	0	1642	739	26	2	3525	2	C11orf41	11	33596381	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	19533237	33596381	101410135	45	27941											
ATM	472	broad.mit.edu	37	11	108173586	108173586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:108173586delG	ENST00000452508.2	+	37	5515	c.5326delG	c.(5326-5328)gaafs	p.E1776fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.E1776fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1776					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTAGTTTTTAGAAGTACCCAG	0.318			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0			GRCh37	CM002224	ATM	M							70	76	74					11																	108173586		2201	4298	6499	SO:0001589	frameshift_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5326delG	11.37:g.108173586delG	ENSP00000388058:p.Glu1776fs		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	CCDS31669.1																																																																																				0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		-	108173586	G	-	108173586	7	5	523	1	0	1	0	1	0	0	0	0	1109	943	33	0	5464	0	ATM	11	108173586	Frame_Shift_Del	DEL	G	TCGA-CJ-4900-01A-01D-1462-08	74577205	108173586	26832930	46	27942											
HSPB2	3316	broad.mit.edu	37	11	111784509	111784509	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:111784509C>G	ENST00000304298.3	+	2	1027	c.439C>G	c.(439-441)Cct>Gct	p.P147A	CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000533971.1_5'Flank|CRYAB_ENST00000533475.1_5'UTR|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000531198.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000525823.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.P147A	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	147					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CCTGGAAGCACCTCGGGGTGG	0.592																																																0													57	55	55					11																	111784509		2201	4297	6498	SO:0001583	missense	3316			U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"Heat shock proteins / HSPB"	5247	protein-coding gene	gene with protein product		602179	"heat shock 27kD protein 2"			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.439C>G	11.37:g.111784509C>G	ENSP00000302476:p.Pro147Ala		Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	37	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113281	0.77210	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.93307	-3.2;-3.2	5.22	5.22	0.72569	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.64402	D	0.000001	D	0.95245	0.8458	M	0.80028	2.48	0.46954	D	0.999263	P	0.46784	0.884	P	0.48704	0.587	D	0.95736	0.8779	10	0.72032	D	0.01	-13.5753	19.1381	0.93436	0.0:1.0:0.0:0.0	.	147	Q16082	HSPB2_HUMAN	A	147	ENSP00000302476:P147A;ENSP00000445585:P147A	ENSP00000302476:P147A	P	+	1	0	HSPB2	111289719	0.998000	0.40836	0.983000	0.44433	0.991000	0.79684	6.174000	0.71943	2.607000	0.88179	0.650000	0.86243	CCT		0.592	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			G	111784509	C	G	111784509	3	3	523	1	0	0	0	0	1	0	0	0	7422	507	18	4	445	4	HSPB2	11	111784509	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	3610923	111784509	23222007	47	27943											
OR8D2	283160	broad.mit.edu	37	11	124189591	124189591	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:124189591A>C	ENST00000357438.2	-	1	593	c.503T>G	c.(502-504)tTc>tGc	p.F168C		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	168						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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGACCTACAGAATGACAACAC	0.458																																																0													109	100	103					11																	124189591		2201	4299	6500	SO:0001583	missense	283160			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.503T>G	11.37:g.124189591A>C	ENSP00000350022:p.Phe168Cys		B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	a	16.08	3.020968	0.54576	.	.	ENSG00000197263	ENST00000357438	T	0.00211	8.54	3.73	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000126	T	0.00666	0.0022	M	0.92412	3.305	0.21579	N	0.999631	D	0.89917	1.0	D	0.91635	0.999	T	0.20438	-1.0275	10	0.87932	D	0	.	9.3544	0.38157	0.9101:0.0:0.0899:0.0	.	168	Q9GZM6	OR8D2_HUMAN	C	168	ENSP00000350022:F168C	ENSP00000350022:F168C	F	-	2	0	OR8D2	123694801	0.973000	0.33851	0.308000	0.25141	0.390000	0.30446	1.657000	0.37366	0.815000	0.34398	0.432000	0.28606	TTC		0.458	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		C	124189591	A	C	124189591	3	2	523	1	0	0	0	0	1	0	0	0	11234	246	9	5	435	5	OR8D2	11	124189591	Missense_Mutation	SNP	A	TCGA-CJ-4900-01A-01D-1462-08	12405082	124189591	10816925	48	27944											
TMEM45B	120224	broad.mit.edu	37	11	129722478	129722478	+	Missense_Mutation	SNP	G	G	A	rs369904524		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:129722478G>A	ENST00000524567.1	+	2	382	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	TMEM45B_ENST00000281441.3_Missense_Mutation_p.R34Q			Q96B21	TM45B_HUMAN	transmembrane protein 45B	34						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		AGCCACACGCGGAAGAACAGC	0.507																																																0								G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	163	146	152		101	-1	0	11		152	0,8594		0,0,4297	no	missense	TMEM45B	NM_138788.3	43	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	34/276	129722478	1,12995	2201	4297	6498	SO:0001583	missense	120224			AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.101G>A	11.37:g.129722478G>A	ENSP00000436293:p.Arg34Gln		A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	G	7.054	0.564987	0.13498	2.27E-4	0.0	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.34275	1.37;1.37	5.64	-0.988	0.10245	.	0.748192	0.13401	N	0.390610	T	0.11153	0.0272	N	0.02960	-0.455	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31724	-0.9933	10	0.10377	T	0.69	-17.4842	4.3237	0.11029	0.3545:0.0:0.4153:0.2301	.	34	Q96B21	TM45B_HUMAN	Q	34	ENSP00000281441:R34Q;ENSP00000436293:R34Q	ENSP00000281441:R34Q	R	+	2	0	TMEM45B	129227688	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.032000	0.13732	-0.179000	0.10654	-0.982000	0.02568	CGG		0.507	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		A	129722478	G	A	129722478	3	1	523	1	0	0	0	0	1	0	0	0	16175	1116	39	1	103	1	TMEM45B	11	129722478	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	5532887	129722478	5284038	49	27945											
CACNA2D4	93589	broad.mit.edu	37	12	2016629	2016629	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:2016629G>A	ENST00000382722.5	-	6	1120	c.758C>T	c.(757-759)aCt>aTt	p.T253I	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T189I|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T189I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	253					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAAGAATCCAGTTGCACTGCC	0.468																																					Colon(2;101 179 21030 23310 28141)											0													73	72	72					12																	2016629		1950	4142	6092	SO:0001583	missense	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.758C>T	12.37:g.2016629G>A	ENSP00000372169:p.Thr253Ile		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349236	0.82132	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.09630	2.96	5.31	5.31	0.75309	VWA N-terminal (1);	0.270733	0.41097	D	0.000943	T	0.41719	0.1171	M	0.89715	3.055	0.22851	N	0.998656	P;D	0.64830	0.946;0.994	P;D	0.67900	0.73;0.954	T	0.43426	-0.9392	10	0.87932	D	0	.	18.5983	0.91236	0.0:0.0:1.0:0.0	.	253;253	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	I	189;253;253	ENSP00000372169:T253I	ENSP00000280663:T253I	T	-	2	0	CACNA2D4	1886890	0.999000	0.42202	0.955000	0.39395	0.906000	0.53458	4.392000	0.59659	2.498000	0.84270	0.561000	0.74099	ACT		0.468	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			A	2016629	G	A	2016629	3	1	523	1	0	0	0	0	1	0	0	0	2553	1029	36	2	2787	2	CACNA2D4	12	2016629	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08		2016629	131835266	50	27946											
KRT71	112802	broad.mit.edu	37	12	52939363	52939363	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:52939363G>A	ENST00000267119.5	-	8	1415	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	449	Tail.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTGACAGGGGAGGGAAATTC	0.433																																																0													61	60	60					12																	52939363		2203	4300	6503	SO:0001583	missense	112802			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1346C>T	12.37:g.52939363G>A	ENSP00000267119:p.Ser449Phe		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308086	0.60305	.	.	ENSG00000139648	ENST00000267119	D	0.83075	-1.68	4.93	4.02	0.46733	.	0.000000	0.43416	D	0.000578	D	0.84270	0.5435	L	0.49126	1.545	0.28512	N	0.913498	P	0.49961	0.93	P	0.53313	0.723	T	0.80211	-0.1476	10	0.87932	D	0	.	12.1688	0.54146	0.0:0.0:0.6915:0.3085	.	449	Q3SY84	K2C71_HUMAN	F	449	ENSP00000267119:S449F	ENSP00000267119:S449F	S	-	2	0	KRT71	51225630	0.000000	0.05858	0.986000	0.45419	0.996000	0.88848	0.197000	0.17197	1.367000	0.46095	0.655000	0.94253	TCC		0.433	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		A	52939363	G	A	52939363	3	1	523	1	0	0	0	0	1	0	0	0	8486	1174	41	2	233	2	KRT71	12	52939363	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	50922734	52939363	80912532	51	27947											
ZC3H10	84872	broad.mit.edu	37	12	56515094	56515094	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:56515094C>T	ENST00000257940.2	+	3	1024	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	250							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCAGGAAGCGGGTAGAGGA	0.517																																																0													72	73	72					12																	56515094		2203	4300	6503	SO:0001583	missense	84872			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"Zinc fingers, CCCH-type domain containing"	25893	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 10"	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.748C>T	12.37:g.56515094C>T	ENSP00000257940:p.Arg250Trp			Missense_Mutation	SNP	ENST00000257940.2	37	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160493	0.57368	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000001	T	0.64294	0.2585	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.69176	-0.5214	9	0.87932	D	0	-9.1509	17.7325	0.88382	0.0:1.0:0.0:0.0	.	250	Q96K80	ZC3HA_HUMAN	W	250	.	ENSP00000257940:R250W	R	+	1	2	ZC3H10	54801361	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.081000	0.64444	2.561000	0.86390	0.655000	0.94253	CGG		0.517	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		T	56515094	C	T	56515094	3	4	523	1	0	0	0	0	1	0	0	0	17564	759	27	1	750	1	ZC3H10	12	56515094	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	3575731	56515094	77336801	52	27948											
MGAT4C	25834	broad.mit.edu	37	12	86373526	86373526	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:86373526C>T	ENST00000604798.1	-	8	2182	c.978G>A	c.(976-978)aaG>aaA	p.K326K	MGAT4C_ENST00000549405.2_Silent_p.K326K|MGAT4C_ENST00000393205.2_Silent_p.K355K|MGAT4C_ENST00000332156.1_Silent_p.K326K|MGAT4C_ENST00000548651.1_Silent_p.K326K|MGAT4C_ENST00000552435.2_3'UTR|MGAT4C_ENST00000552808.2_Silent_p.K326K			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	326					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATCATCATCCTTCAGCTTAT	0.408																																																0													81	79	80					12																	86373526		2203	4300	6503	SO:0001819	synonymous_variant	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.978G>A	12.37:g.86373526C>T			B4DRH2|Q4G199|Q9UIU5	Silent	SNP	ENST00000604798.1	37	CCDS9030.1																																																																																				0.408	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		T	86373526	C	T	86373526	2	4	523	1	0	0	0	0	0	0	0	1	9549	680	24	2		2	MGAT4C	12	86373526	Silent	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	29858432	86373526	47478369	53	27949											
USP44	84101	broad.mit.edu	37	12	95911974	95911974	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:95911974G>C	ENST00000258499.3	-	6	2383	c.2095C>G	c.(2095-2097)Ccc>Gcc	p.P699A	USP44_ENST00000552440.1_3'UTR|USP44_ENST00000537435.2_Missense_Mutation_p.P699A|USP44_ENST00000393091.2_Missense_Mutation_p.P699A	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	699					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TCTTCATTGGGATGTTGGCTC	0.393																																																0													115	113	114					12																	95911974		2203	4300	6503	SO:0001583	missense	84101			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.2095C>G	12.37:g.95911974G>C	ENSP00000258499:p.Pro699Ala		B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	5.464	0.270599	0.10349	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.03745	3.82;3.82;3.82	5.89	-0.791	0.10929	.	0.833806	0.10718	N	0.642104	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.25563	0.129	B	0.18561	0.022	T	0.46148	-0.9212	10	0.44086	T	0.13	.	0.7352	0.00964	0.2903:0.1184:0.3487:0.2426	.	699	Q9H0E7	UBP44_HUMAN	A	699	ENSP00000258499:P699A;ENSP00000376806:P699A;ENSP00000442629:P699A	ENSP00000258499:P699A	P	-	1	0	USP44	94436105	0.481000	0.25941	0.080000	0.20451	0.091000	0.18340	0.834000	0.27518	0.077000	0.16863	-0.300000	0.09419	CCC		0.393	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		C	95911974	G	C	95911974	3	2	523	1	0	0	0	0	1	0	0	0	17080	1174	41	4	47	4	USP44	12	95911974	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	9538448	95911974	37939921	54	27950											
MTUS2	23281	broad.mit.edu	37	13	29599533	29599533	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr13:29599533A>G	ENST00000431530.3	+	1	786	c.728A>G	c.(727-729)gAc>gGc	p.D243G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	233						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTGCAACTGACAGTACCTCA	0.582																																																0													40	40	40					13																	29599533		2201	4299	6500	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.728A>G	13.37:g.29599533A>G	ENSP00000392057:p.Asp243Gly		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	a	12.33	1.906025	0.33628	.	.	ENSG00000132938	ENST00000431530	T	0.19105	2.17	5.49	2.85	0.33270	.	0.635768	0.14286	N	0.329195	T	0.20414	0.0491	L	0.54323	1.7	0.09310	N	0.999993	P	0.42296	0.775	B	0.43916	0.436	T	0.13282	-1.0515	9	.	.	.	.	2.8847	0.05658	0.6259:0.1516:0.0773:0.1451	.	233	Q5JR59	MTUS2_HUMAN	G	243	ENSP00000392057:D243G	.	D	+	2	0	MTUS2	28497533	0.032000	0.19561	0.054000	0.19295	0.019000	0.09904	1.198000	0.32223	0.878000	0.35920	0.459000	0.35465	GAC		0.582	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		G	29599533	A	G	29599533	3	3	523	1	0	0	0	0	1	0	0	0	9968	275	10	3	730	3	MTUS2	13	29599533	Missense_Mutation	SNP	A	TCGA-CJ-4900-01A-01D-1462-08		29599533	85570345	55	27951											
FRY	10129	broad.mit.edu	37	13	32813993	32813993	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr13:32813993T>C	ENST00000380250.3	+	46	7158	c.6662T>C	c.(6661-6663)tTg>tCg	p.L2221S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2221						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GACATTACCTTGAATATGGTT	0.443																																																0													87	87	87					13																	32813993		1968	4154	6122	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6662T>C	13.37:g.32813993T>C	ENSP00000369600:p.Leu2221Ser		Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.734004	0.89482	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.26518	1.73	6.07	6.07	0.98685	.	0.066932	0.64402	D	0.000012	T	0.42359	0.1199	L	0.54323	1.7	0.80722	D	1	P	0.37781	0.608	P	0.52710	0.707	T	0.06917	-1.0800	10	0.27785	T	0.31	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	2221	Q5TBA9	FRY_HUMAN	S	2221;1058	ENSP00000369600:L2221S	ENSP00000369600:L2221S	L	+	2	0	FRY	31711993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.980000	0.88113	2.326000	0.78906	0.533000	0.62120	TTG		0.443	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		C	32813993	T	C	32813993	3	2	523	1	0	0	0	0	1	0	0	0	6065	1821	63	3	6844	3	FRY	13	32813993	Missense_Mutation	SNP	T	TCGA-CJ-4900-01A-01D-1462-08	3214460	32813993	82355885	56	27952											
BTBD7	55727	broad.mit.edu	37	14	93762381	93762381	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr14:93762381G>C	ENST00000334746.5	-	2	324	c.17C>G	c.(16-18)tCt>tGt	p.S6C	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.S6C|BTBD7_ENST00000555525.1_Missense_Mutation_p.S6C|BTBD7_ENST00000393170.2_5'Flank	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	6					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGGATAATTAGATGCATTAGC	0.433																																																0													81	75	77					14																	93762381		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.17C>G	14.37:g.93762381G>C	ENSP00000335615:p.Ser6Cys		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574142	0.65878	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525;ENST00000554968	T	0.53423	0.62	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.987;0.99	T	0.66228	-0.5976	10	0.87932	D	0	.	19.615	0.95630	0.0:0.0:1.0:0.0	.	6;6	Q9P203-3;Q9P203	.;BTBD7_HUMAN	C	6	ENSP00000335615:S6C	ENSP00000298896:S6C	S	-	2	0	BTBD7	92832134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.632000	0.89209	0.650000	0.86243	TCT		0.433	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		C	93762381	G	C	93762381	3	2	523	1	0	0	0	0	1	0	0	0	1548	942	33	4	3496	4	BTBD7	14	93762381	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08		93762381	13587159	57	27953											
TRPM1	4308	broad.mit.edu	37	15	31355463	31355463	+	Missense_Mutation	SNP	C	C	T	rs202031791		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr15:31355463C>T	ENST00000256552.6	-	8	970	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.V253M|TRPM1_ENST00000542188.1_Missense_Mutation_p.V292M	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.V253L(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCCTCCACCACGAGACCCACG	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16912	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	lung(1)						C	MET/VAL	1,4051		0,1,2025	86	98	94		757	4.7	1	15		94	2,8344		0,2,4171	yes	missense	TRPM1	NM_002420.4	21	0,3,6196	TT,TC,CC		0.024,0.0247,0.0242	possibly-damaging	253/1604	31355463	3,12395	2026	4173	6199	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.823G>A	15.37:g.31355463C>T	ENSP00000256552:p.Val275Met			Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	24.6	4.545353	0.86022	2.47E-4	2.4E-4	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.36340	1.26;1.26;1.26	5.66	4.65	0.58169	.	0.050983	0.85682	D	0.000000	T	0.43433	0.1247	M	0.74389	2.26	0.42809	D	0.99395	P;P	0.51653	0.867;0.947	P;P	0.51055	0.559;0.657	T	0.51076	-0.8751	10	0.87932	D	0	-35.0927	3.6984	0.08374	0.0:0.6612:0.0:0.3388	.	253;253	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	253;292;275;253	ENSP00000380897:V253M;ENSP00000437849:V292M;ENSP00000256552:V275M	ENSP00000256552:V275M	V	-	1	0	TRPM1	29142755	0.999000	0.42202	0.993000	0.49108	0.979000	0.70002	3.445000	0.52921	2.668000	0.90789	0.650000	0.86243	GTG		0.602	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31355463	C	T	31355463	3	4	523	1	0	0	0	0	1	0	0	0	16590	536	19	1	4138	1	TRPM1	15	31355463	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08		31355463	71175929	58	27954											
PGBD4	161779	broad.mit.edu	37	15	34396086	34396086	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr15:34396086T>C	ENST00000397766.2	+	1	1813	c.1354T>C	c.(1354-1356)Tat>Cat	p.Y452H	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	452										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CAAGGTTTGGTATAAGAAATT	0.408																																																0													75	70	72					15																	34396086		2201	4298	6499	SO:0001583	missense	161779			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1354T>C	15.37:g.34396086T>C	ENSP00000380872:p.Tyr452His		A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	t	17.65	3.441203	0.63067	.	.	ENSG00000182405	ENST00000397766	T	0.19394	2.15	1.02	1.02	0.19986	.	0.103999	0.39274	U	0.001402	T	0.29061	0.0722	L	0.46819	1.47	0.22811	N	0.998708	D	0.89917	1.0	D	0.91635	0.999	T	0.13019	-1.0525	10	0.16896	T	0.51	.	6.1702	0.20412	0.0:0.0:0.0:1.0	.	452	Q96DM1	PGBD4_HUMAN	H	452	ENSP00000380872:Y452H	ENSP00000380872:Y452H	Y	+	1	0	PGBD4	32183378	0.981000	0.34729	0.171000	0.22900	0.951000	0.60555	0.775000	0.26689	0.714000	0.32081	0.255000	0.18592	TAT		0.408	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			C	34396086	T	C	34396086	3	2	523	1	0	0	0	0	1	0	0	0	11785	1638	57	3	1356	3	PGBD4	15	34396086	Missense_Mutation	SNP	T	TCGA-CJ-4900-01A-01D-1462-08	3040623	34396086	68135306	59	27955											
PPL	5493	broad.mit.edu	37	16	4935161	4935161	+	Silent	SNP	G	G	A	rs148525665		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr16:4935161G>A	ENST00000345988.2	-	22	3584	c.3495C>T	c.(3493-3495)aaC>aaT	p.N1165N	PPL_ENST00000590782.2_Silent_p.N1163N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1165					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCACTTTGGCGTTCTCCTCCT	0.617																																																0								G		0,4394		0,0,2197	132	120	124		3495	-9.4	0.2	16	dbSNP_134	124	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PPL	NM_002705.4		0,2,6495	AA,AG,GG		0.0233,0.0,0.0154		1165/1757	4935161	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3495C>T	16.37:g.4935161G>A			O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.617	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		A	4935161	G	A	4935161	2	1	523	1	0	0	0	0	0	0	0	1	12339	1136	40	1		1	PPL	16	4935161	Silent	SNP	G	TCGA-CJ-4900-01A-01D-1462-08		4935161	85419592	60	27956											
TRADD	8717	broad.mit.edu	37	16	67190518	67190518	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr16:67190518A>G	ENST00000345057.4	-	2	514	c.46T>C	c.(46-48)Tac>Cac	p.Y16H	TRADD_ENST00000566104.1_5'UTR|TRADD_ENST00000486556.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	16					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		ACAAACAGGTATGCGCTGCCC	0.607																																																0													204	156	172					16																	67190518		2198	4300	6498	SO:0001583	missense	8717			L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.46T>C	16.37:g.67190518A>G	ENSP00000341268:p.Tyr16His		B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	37	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418616	0.83559	.	.	ENSG00000102871	ENST00000345057	.	.	.	4.63	4.63	0.57726	TRADD, N-terminal (3);	0.143622	0.48286	D	0.000197	T	0.70753	0.3260	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.992	T	0.73569	-0.3941	9	0.87932	D	0	-16.9486	10.3546	0.43956	1.0:0.0:0.0:0.0	.	16;16	B4DWM0;Q15628	.;TRADD_HUMAN	H	16	.	ENSP00000341268:Y16H	Y	-	1	0	TRADD	65748019	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.826000	0.55738	1.961000	0.56991	0.379000	0.24179	TAC		0.607	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			G	67190518	A	G	67190518	3	3	523	1	0	0	0	0	1	0	0	0	16441	449	16	3	908	3	TRADD	16	67190518	Missense_Mutation	SNP	A	TCGA-CJ-4900-01A-01D-1462-08	62255357	67190518	23164235	61	27957											
RABEP1	9135	broad.mit.edu	37	17	5266228	5266228	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:5266228C>T	ENST00000546142.2	+	10	1772	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	RABEP1_ENST00000408982.2_Missense_Mutation_p.L529F|RABEP1_ENST00000537505.1_Missense_Mutation_p.L486F|RP11-420A6.2_ENST00000572792.1_RNA|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000262477.6_Missense_Mutation_p.L529F|RABEP1_ENST00000341923.6_Missense_Mutation_p.L529F			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	529					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGGAAATAAACTTGGTAGACG	0.403																																																0													127	120	122					17																	5266228		1917	4134	6051	SO:0001583	missense	9135			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1585C>T	17.37:g.5266228C>T	ENSP00000437701:p.Leu529Phe		B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579103	0.86645	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.53640	0.62;0.68;0.62;0.68;0.61	5.75	5.75	0.90469	Rabaptin coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.999	T	0.52741	-0.8535	10	0.24483	T	0.36	-6.9722	19.319	0.94229	0.0:1.0:0.0:0.0	.	486;486;522;529;529	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	F	529;529;522;529;529;486	ENSP00000262477:L529F;ENSP00000386150:L529F;ENSP00000437701:L529F;ENSP00000339569:L529F;ENSP00000445408:L486F	ENSP00000262477:L529F	L	+	1	0	RABEP1	5206952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.210000	0.58500	2.894000	0.99253	0.655000	0.94253	CTT		0.403	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		T	5266228	C	T	5266228	3	4	523	1	0	0	0	0	1	0	0	0	12967	565	20	2	1623	2	RABEP1	17	5266228	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08		5266228	75928982	62	27958											
MYH4	4622	broad.mit.edu	37	17	10369732	10369732	+	Splice_Site	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:10369732G>C	ENST00000255381.2	-	4	316	c.206C>G	c.(205-207)aCt>aGt	p.T69S	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	69					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CACAGTTACAGTCTGTTAAGA	0.403																																																0													174	160	165					17																	10369732		2203	4300	6503	SO:0001630	splice_region_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.205-1C>G	17.37:g.10369732G>C				Splice_Site	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540920	0.45280	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	D	0.82984	-1.67	4.74	3.74	0.42951	Myosin, N-terminal, SH3-like (1);	0.000000	0.38492	U	0.001676	T	0.79981	0.4540	L	0.60455	1.87	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.77048	-0.2732	10	0.46703	T	0.11	.	14.3744	0.66862	0.0:0.2815:0.7185:0.0	.	69	Q9Y623	MYH4_HUMAN	S	69	ENSP00000255381:T69S	ENSP00000431873:T69S	T	-	2	0	MYH2;MYH4	10310457	1.000000	0.71417	0.893000	0.35052	0.371000	0.29859	4.417000	0.59822	1.300000	0.44818	0.650000	0.86243	ACT		0.403	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Missense_Mutation	C	10369732	G	C	10369732	5	2	523	1	0	0	0	0	0	0	1	0	10039	1043	36	4	5761	4	MYH4	17	10369732	Splice_Site	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	5103504	10369732	70825478	63	27959											
PLEKHM1	9842	broad.mit.edu	37	17	43531340	43531340	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:43531340C>G	ENST00000430334.3	-	7	2011	c.1878G>C	c.(1876-1878)aaG>aaC	p.K626N	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.K537N	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	626					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GAGGCCGGACCTTCTGCAGGG	0.672																																																0													34	35	35					17																	43531340		2202	4299	6501	SO:0001583	missense	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1878G>C	17.37:g.43531340C>G	ENSP00000389913:p.Lys626Asn		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518194	0.64634	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.30448	1.53;1.53	4.8	3.76	0.43208	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	M	0.68952	2.095	0.46981	D	0.999274	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.989	T	0.46470	-0.9189	10	0.62326	D	0.03	.	8.2197	0.31534	0.0:0.8107:0.0:0.1893	.	537;575;626	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	N	626;575;537	ENSP00000389913:K626N;ENSP00000414352:K537N	ENSP00000414352:K537N	K	-	3	2	PLEKHM1	40887123	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.239000	0.32719	2.514000	0.84764	0.586000	0.80456	AAG		0.672	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		G	43531340	C	G	43531340	3	3	523	1	0	0	0	0	1	0	0	0	12082	680	24	4	1316	4	PLEKHM1	17	43531340	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	33161608	43531340	37663870	64	27960											
SPATA20	64847	broad.mit.edu	37	17	48632612	48632612	+	Missense_Mutation	SNP	G	G	A	rs200648820		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:48632612G>A	ENST00000356488.4	+	15	2212	c.2129G>A	c.(2128-2130)cGt>cAt	p.R710H	SPATA20_ENST00000393244.3_Missense_Mutation_p.R666H|SPATA20_ENST00000511937.1_3'UTR|CACNA1G-AS1_ENST00000508920.1_RNA|SPATA20_ENST00000006658.6_Missense_Mutation_p.R726H|CACNA1G-AS1_ENST00000505495.1_RNA|CACNA1G-AS1_ENST00000505793.1_RNA	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	710					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGTGGAGACCGTCAGGCCAAG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19170	0.001		0.0	False		,,,				2504	0.0															0													200	148	165					17																	48632612		2203	4300	6503	SO:0001583	missense	64847				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.2129G>A	17.37:g.48632612G>A	ENSP00000348878:p.Arg710His		Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.84	2.358584	0.41801	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.23147	1.92;1.92;1.93	5.25	3.2	0.36748	.	0.292405	0.32273	N	0.006327	T	0.35068	0.0919	M	0.68317	2.08	0.25605	N	0.986556	P;D	0.57571	0.841;0.98	B;P	0.51229	0.339;0.663	T	0.15549	-1.0433	10	0.49607	T	0.09	-19.1517	10.2654	0.43452	0.133:0.5542:0.3128:0.0	.	710;726	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	H	726;710;666	ENSP00000006658:R726H;ENSP00000348878:R710H;ENSP00000376935:R666H	ENSP00000006658:R726H	R	+	2	0	SPATA20	45987611	0.746000	0.28272	0.998000	0.56505	0.956000	0.61745	1.702000	0.37836	0.564000	0.29238	0.555000	0.69702	CGT		0.597	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		A	48632612	G	A	48632612	3	1	523	1	0	0	0	0	1	0	0	0	15011	1145	40	1	2239	1	SPATA20	17	48632612	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	5101272	48632612	32562598	65	27961											
ATP8B3	148229	broad.mit.edu	37	19	1787180	1787180	+	Silent	SNP	C	C	A	rs371537574		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:1787180C>A	ENST00000310127.6	-	25	3313	c.3075G>T	c.(3073-3075)ctG>ctT	p.L1025L	ATP8B3_ENST00000539485.1_Silent_p.L1035L|ATP8B3_ENST00000525591.1_Silent_p.L988L	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1025					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTTCATACAGGGGCTGAG	0.602																																																0													48	52	50					19																	1787180		1914	4118	6032	SO:0001819	synonymous_variant	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3075G>T	19.37:g.1787180C>A			Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	CCDS45901.1																																																																																				0.602	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		A	1787180	C	A	1787180	2	1	523	1	0	0	0	0	0	0	0	1	1196	465	17	4		4	ATP8B3	19	1787180	Silent	SNP	C	TCGA-CJ-4900-01A-01D-1462-08		1787180	57341803	66	27962											
DOCK6	57572	broad.mit.edu	37	19	11319498	11319498	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:11319498G>A	ENST00000294618.7	-	39	4963	c.4952C>T	c.(4951-4953)tCa>tTa	p.S1651L	DOCK6_ENST00000319867.7_Missense_Mutation_p.S990L|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1651	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACGTTGGATGAGATGTTCTG	0.637																																																0													65	73	70					19																	11319498		2129	4225	6354	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4952C>T	19.37:g.11319498G>A	ENSP00000294618:p.Ser1651Leu		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.634102	0.87660	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.26518	2.47;1.73	4.99	4.99	0.66335	.	0.149991	0.46758	D	0.000263	T	0.61602	0.2360	M	0.92555	3.32	0.80722	D	1	D;P;D	0.76494	0.999;0.936;0.999	D;P;D	0.76575	0.984;0.824;0.988	T	0.72590	-0.4247	10	0.87932	D	0	-10.4944	17.4049	0.87470	0.0:0.0:1.0:0.0	.	990;1651;990	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	L	1651;990	ENSP00000294618:S1651L;ENSP00000321556:S990L	ENSP00000294618:S1651L	S	-	2	0	DOCK6	11180498	1.000000	0.71417	0.948000	0.38648	0.633000	0.38033	9.284000	0.95882	2.490000	0.84030	0.651000	0.88453	TCA		0.637	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		A	11319498	G	A	11319498	3	1	523	1	0	0	0	0	1	0	0	0	4693	1294	45	2	1231	2	DOCK6	19	11319498	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	9532318	11319498	47809485	67	27963											
ZSWIM4	65249	broad.mit.edu	37	19	13941546	13941546	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:13941546C>T	ENST00000254323.2	+	13	2841	c.2652C>T	c.(2650-2652)cgC>cgT	p.R884R	ZSWIM4_ENST00000440752.2_Silent_p.R718R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	884							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ATATTCTGCGCCGCTGGACTC	0.697																																																0													68	69	69					19																	13941546		2203	4300	6503	SO:0001819	synonymous_variant	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2652C>T	19.37:g.13941546C>T				Silent	SNP	ENST00000254323.2	37	CCDS32924.1																																																																																				0.697	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		T	13941546	C	T	13941546	2	4	523	1	0	0	0	0	0	0	0	1	18248	726	26	2		2	ZSWIM4	19	13941546	Silent	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	2622048	13941546	45187437	68	27964											
KIRREL2	84063	broad.mit.edu	37	19	36351226	36351226	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:36351226C>T	ENST00000360202.5	+	6	899	c.701C>T	c.(700-702)tCg>tTg	p.S234L	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S234L|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S184L|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S234L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	234	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.S234L(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTCTGCTTCGCCACACACT	0.602																																																2	Substitution - Missense(2)	breast(2)											76	61	66					19																	36351226		2203	4300	6503	SO:0001583	missense	84063			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.701C>T	19.37:g.36351226C>T	ENSP00000353331:p.Ser234Leu		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213444	0.39102	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.14144	2.53;2.53;2.53	3.86	2.82	0.32997	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.350050	0.20442	N	0.092262	T	0.07458	0.0188	N	0.17082	0.46	0.31779	N	0.631143	B;B;B;B;B	0.31680	0.198;0.165;0.198;0.335;0.335	B;B;B;B;B	0.25884	0.064;0.038;0.064;0.062;0.038	T	0.10590	-1.0623	10	0.72032	D	0.01	-9.0271	7.3113	0.26475	0.7587:0.2413:0.0:0.0	.	234;214;234;184;234	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	L	234;184;234;214	ENSP00000262625:S234L;ENSP00000345067:S184L;ENSP00000353331:S234L	ENSP00000262625:S234L	S	+	2	0	KIRREL2	41043066	1.000000	0.71417	0.995000	0.50966	0.495000	0.33615	4.020000	0.57189	0.674000	0.31244	-0.556000	0.04195	TCG		0.602	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		T	36351226	C	T	36351226	3	4	523	1	0	0	0	0	1	0	0	0	8327	893	31	1	723	1	KIRREL2	19	36351226	Missense_Mutation	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	22409680	36351226	22777757	69	27965											
MEGF8	1954	broad.mit.edu	37	19	42879720	42879720	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:42879720T>C	ENST00000251268.6	+	42	7331	c.7331T>C	c.(7330-7332)cTc>cCc	p.L2444P	MEGF8_ENST00000378073.4_Missense_Mutation_p.L38P|MEGF8_ENST00000334370.4_Missense_Mutation_p.L2377P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2444					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGCTACCGCCTCATCTCGGTG	0.672																																																0													26	22	23					19																	42879720		2200	4298	6498	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7331T>C	19.37:g.42879720T>C	ENSP00000251268:p.Leu2444Pro		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	t	16.31	3.086205	0.55861	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.21543	2.0;2.0	4.52	4.52	0.55395	.	0.098319	0.46758	D	0.000271	T	0.27098	0.0664	N	0.24115	0.695	0.80722	D	1	D;D;D	0.67145	0.987;0.996;0.994	P;P;P	0.59889	0.6;0.806;0.865	T	0.02581	-1.1138	10	0.42905	T	0.14	-28.2059	13.5139	0.61528	0.0:0.0:0.0:1.0	.	38;2444;2377	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	P	2377;2444;38	ENSP00000334219:L2377P;ENSP00000251268:L2444P	ENSP00000251268:L2444P	L	+	2	0	MEGF8	47571560	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.659000	0.54489	1.984000	0.57885	0.529000	0.55759	CTC		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		C	42879720	T	C	42879720	3	2	523	1	0	0	0	0	1	0	0	0	9465	1551	54	3	7292	3	MEGF8	19	42879720	Missense_Mutation	SNP	T	TCGA-CJ-4900-01A-01D-1462-08	6528494	42879720	16249263	70	27966											
ZNF45	7596	broad.mit.edu	37	19	44418057	44418057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:44418057G>A	ENST00000269973.5	-	10	2621	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*	ZNF45_ENST00000589703.1_Nonsense_Mutation_p.Q511*|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	511					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTGGAGAACTGACTGAAGGCC	0.493																																																0													69	62	64					19																	44418057		2203	4300	6503	SO:0001587	stop_gained	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1531C>T	19.37:g.44418057G>A	ENSP00000269973:p.Gln511*		P17016|P78472|Q9P1U9	Nonsense_Mutation	SNP	ENST00000269973.5	37	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	G	46	12.330246	0.99658	.	.	ENSG00000124459	ENST00000269973	.	.	.	3.61	3.61	0.41365	.	0.000000	0.34603	N	0.003836	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-17.4471	14.5273	0.67897	0.0:0.0:1.0:0.0	.	.	.	.	X	511	.	ENSP00000269973:Q511X	Q	-	1	0	ZNF45	49109897	0.000000	0.05858	0.991000	0.47740	0.883000	0.51084	-0.612000	0.05616	2.026000	0.59711	0.455000	0.32223	CAG		0.493	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		A	44418057	G	A	44418057	4	1	523	1	0	0	0	0	0	1	0	0	17926	1299	45	2	521	2	ZNF45	19	44418057	Nonsense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	1538337	44418057	14710926	71	27967											
RALGAPA2	57186	broad.mit.edu	37	20	20621392	20621392	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr20:20621392G>T	ENST00000202677.7	-	6	510	c.503C>A	c.(502-504)cCt>cAt	p.P168H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	168					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAGTGTGCAAGGGCCCCTGGA	0.478																																																0													100	100	100					20																	20621392		1930	4140	6070	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.503C>A	20.37:g.20621392G>T	ENSP00000202677:p.Pro168His		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994346	0.74703	.	.	ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161	T;T;T	0.78707	-1.2;-1.2;-1.2	5.62	4.66	0.58398	.	0.000000	0.85682	U	0.000000	D	0.85186	0.5639	M	0.78801	2.425	0.51012	D	0.999905	D	0.62365	0.991	P	0.56434	0.798	D	0.87186	0.2231	10	0.66056	D	0.02	.	14.882	0.70540	0.0694:0.0:0.9306:0.0	.	168	Q2PPJ7	RGPA2_HUMAN	H	168;20;20;168	ENSP00000202677:P168H;ENSP00000400901:P20H;ENSP00000412795:P168H	ENSP00000202677:P168H	P	-	2	0	RALGAPA2	20569392	1.000000	0.71417	0.998000	0.56505	0.560000	0.35617	6.253000	0.72453	1.373000	0.46208	0.591000	0.81541	CCT		0.478	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		T	20621392	G	T	20621392	3	4	523	1	0	0	0	0	1	0	0	0	13020	1000	35	4	5254	4	RALGAPA2	20	20621392	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08		20621392	42404128	72	27968											
EEF1A2	1917	broad.mit.edu	37	20	62128979	62128979	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr20:62128979C>T	ENST00000298049.7	-	1	208	c.138G>A	c.(136-138)gcG>gcA	p.A46A	EEF1A2_ENST00000217182.3_Silent_p.A46A			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	46	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCACCTCAGCCGCCTCCTTCT	0.612																																																0													128	126	127					20																	62128979		2203	4300	6503	SO:0001819	synonymous_variant	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.138G>A	20.37:g.62128979C>T			B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	CCDS13522.1																																																																																				0.612	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		T	62128979	C	T	62128979	2	4	523	1	0	0	0	0	0	0	0	1	4926	639	23	1		1	EEF1A2	20	62128979	Silent	SNP	C	TCGA-CJ-4900-01A-01D-1462-08	41507587	62128979	896541	73	27969											
B3GALT5	10317	broad.mit.edu	37	21	41033355	41033355	+	Missense_Mutation	SNP	G	G	A	rs376663833		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr21:41033355G>A	ENST00000380620.4	+	5	1461	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	B3GALT5_ENST00000398714.2_Missense_Mutation_p.R290Q|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R290Q|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R290Q|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	290					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ATCAAGCCTCGGACTCTCTTG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14845	0.0		0.0	False		,,,				2504	0.0															0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	5,4401		0,5,2198	53	54	54		869,869,869,869,869	-2.4	0	21		54	0,8596		0,0,4298	no	missense,missense,missense,missense,missense	B3GALT5	NM_006057.1,NM_033170.1,NM_033171.1,NM_033172.1,NM_033173.1	43,43,43,43,43	0,5,6496	AA,AG,GG		0.0,0.1135,0.0385	benign,benign,benign,benign,benign	290/311,290/311,290/311,290/311,290/311	41033355	5,12997	2203	4298	6501	SO:0001583	missense	10317			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.869G>A	21.37:g.41033355G>A	ENSP00000369994:p.Arg290Gln		A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	7.879	0.729804	0.15507	0.001135	0.0	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.51	-2.43	0.06522	.	3.480220	0.01103	N	0.005410	T	0.17195	0.0413	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18618	-1.0331	10	0.12766	T	0.61	.	8.4961	0.33130	0.3916:0.3126:0.2958:0.0	.	290	Q9Y2C3	B3GT5_HUMAN	Q	290	ENSP00000369994:R290Q;ENSP00000369992:R290Q;ENSP00000343318:R290Q;ENSP00000381699:R290Q	ENSP00000343318:R290Q	R	+	2	0	B3GALT5	39955225	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.041000	0.13927	-0.408000	0.07565	-0.340000	0.08031	CGG		0.577	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		A	41033355	G	A	41033355	3	1	523	1	0	0	0	0	1	0	0	0	1250	1116	39	1	871	1	B3GALT5	21	41033355	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08		41033355	7096540	74	27970											
HORMAD2	150280	broad.mit.edu	37	22	30517740	30517740	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr22:30517740A>C	ENST00000336726.6	+	9	885	c.530A>C	c.(529-531)aAt>aCt	p.N177T	HORMAD2_ENST00000403975.1_Missense_Mutation_p.N177T	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	177	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			CTTCCTAATAATGTTGTACTT	0.348																																																0													92	81	85					22																	30517740		1857	4094	5951	SO:0001583	missense	150280			AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.530A>C	22.37:g.30517740A>C	ENSP00000336984:p.Asn177Thr		B5MEB2|Q8NHR2	Missense_Mutation	SNP	ENST00000336726.6	37	CCDS46683.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.385071	0.25031	.	.	ENSG00000176635	ENST00000336726;ENST00000403975	T;T	0.29917	1.55;1.55	4.87	3.84	0.44239	DNA-binding HORMA (4);	0.509670	0.22130	N	0.064209	T	0.27489	0.0675	L	0.40543	1.245	0.24408	N	0.994674	B	0.27971	0.196	B	0.35859	0.212	T	0.20405	-1.0276	10	0.41790	T	0.15	-6.0571	8.6729	0.34161	0.9133:0.0:0.0867:0.0	.	177	Q8N7B1	HORM2_HUMAN	T	177	ENSP00000336984:N177T;ENSP00000385055:N177T	ENSP00000336984:N177T	N	+	2	0	HORMAD2	28847740	1.000000	0.71417	0.993000	0.49108	0.260000	0.26232	4.419000	0.59835	0.887000	0.36136	-0.264000	0.10439	AAT		0.348	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320416.2	NM_152510		C	30517740	A	C	30517740	3	2	523	1	0	0	0	0	1	0	0	0	7289	101	4	5	560	5	HORMAD2	22	30517740	Missense_Mutation	SNP	A	TCGA-CJ-4900-01A-01D-1462-08		30517740	20786826	75	27971											
MPPED1	758	broad.mit.edu	37	22	43831006	43831006	+	Missense_Mutation	SNP	G	G	A	rs529333273		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr22:43831006G>A	ENST00000417669.2	+	3	721	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	MPPED1_ENST00000542779.1_Missense_Mutation_p.V93I|MPPED1_ENST00000443721.1_Missense_Mutation_p.V93I|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Missense_Mutation_p.V126I|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	93							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CACCCGCTTCGTCTGCGTCTC	0.652																																																0													112	129	123					22																	43831006		2148	4243	6391	SO:0001583	missense	758			U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.277G>A	22.37:g.43831006G>A	ENSP00000388137:p.Val93Ile		A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	36	5.671468	0.96754	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000542779;ENST00000538182	T;T;T;T;T	0.61158	0.73;0.13;0.73;0.73;0.73	4.81	4.81	0.61882	.	0.130978	0.50627	D	0.000102	T	0.72382	0.3453	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.58520	0.84;0.578	T	0.77143	-0.2696	10	0.87932	D	0	-49.6804	18.2639	0.90046	0.0:0.0:1.0:0.0	.	126;93	B7Z2S9;O15442	.;MPPD1_HUMAN	I	93;93;93;71;93;126	ENSP00000388137:V93I;ENSP00000335568:V93I;ENSP00000400686:V93I;ENSP00000444532:V93I;ENSP00000438335:V126I	ENSP00000335568:V93I	V	+	1	0	MPPED1	42160950	1.000000	0.71417	0.958000	0.39756	0.916000	0.54674	9.206000	0.95056	2.374000	0.81015	0.561000	0.74099	GTC		0.652	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		A	43831006	G	A	43831006	3	1	523	1	0	0	0	0	1	0	0	0	9743	1145	40	1	283	1	MPPED1	22	43831006	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	13313266	43831006	7473560	76	27972											
BCOR	54880	broad.mit.edu	37	X	39922969	39922969	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:39922969G>T	ENST00000378444.4	-	8	3967	c.3739C>A	c.(3739-3741)Cct>Act	p.P1247T	BCOR_ENST00000397354.3_Missense_Mutation_p.P1213T|BCOR_ENST00000378463.1_Missense_Mutation_p.P90T|BCOR_ENST00000378455.4_Missense_Mutation_p.P1195T|BCOR_ENST00000342274.4_Missense_Mutation_p.P1213T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1247					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTCCCCTGAGGAATGGCCTCA	0.557			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													179	144	156					X																	39922969		2202	4300	6502	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3739C>A	X.37:g.39922969G>T	ENSP00000367705:p.Pro1247Thr		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	1.145	-0.648399	0.03506	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T	0.67171	-0.25;1.13;1.21;1.18;1.21;1.18	5.52	-1.26	0.09376	.	.	.	.	.	T	0.38427	0.1040	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.14254	-1.0479	9	0.51188	T	0.08	-2.2912	1.5453	0.02563	0.1272:0.385:0.2469:0.241	.	1195;1247;1213	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	T	117;90;1195;1213;1247;1213;1213	ENSP00000408006:P117T;ENSP00000367724:P90T;ENSP00000367716:P1195T;ENSP00000380512:P1213T;ENSP00000367705:P1247T;ENSP00000345923:P1213T	ENSP00000345923:P1213T	P	-	1	0	BCOR	39807913	0.267000	0.24122	0.002000	0.10522	0.093000	0.18481	0.258000	0.18387	-0.858000	0.04110	-0.436000	0.05848	CCT		0.557	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		T	39922969	G	T	39922969	3	4	523	1	0	0	0	0	1	0	0	0	1386	1174	41	4	1560	4	BCOR	23	39922969	Missense_Mutation	SNP	G	TCGA-CJ-4900-01A-01D-1462-08		39922969	115347591	77	27973											
HUWE1	10075	broad.mit.edu	37	X	53595734	53595734	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:53595734T>C	ENST00000342160.3	-	48	7082	c.6625A>G	c.(6625-6627)Atg>Gtg	p.M2209V	HUWE1_ENST00000262854.6_Missense_Mutation_p.M2209V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2209					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGTTGTTCATGCCATTGTGC	0.517																																																0													168	121	137					X																	53595734		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6625A>G	X.37:g.53595734T>C	ENSP00000340648:p.Met2209Val		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.23|12.23	1.876344|1.876344	0.33162|0.33162	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.36878	.|1.23;1.23	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24236|0.24236	0.0587|0.0587	N|N	0.22421|0.22421	0.69|0.69	0.47737|0.47737	D|D	0.999505|0.999505	.|B;B	.|0.16396	.|0.003;0.017	.|B;B	.|0.15484	.|0.006;0.013	T|T	0.07635|0.07635	-1.0762|-1.0762	5|10	.|0.12766	.|T	.|0.61	.|.	13.5332|13.5332	0.61633|0.61633	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2209;2209	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	R|V	1242|2209	.|ENSP00000340648:M2209V;ENSP00000262854:M2209V	.|ENSP00000262854:M2209V	H|M	-|-	2|1	0|0	HUWE1|HUWE1	53612459|53612459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.962000|4.962000	0.63687|0.63687	1.839000|1.839000	0.53478|0.53478	0.486000|0.486000	0.48141|0.48141	CAT|ATG		0.517	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		C	53595734	T	C	53595734	3	2	523	1	0	0	0	0	1	0	0	0	7463	1464	51	3	6643	3	HUWE1	23	53595734	Missense_Mutation	SNP	T	TCGA-CJ-4900-01A-01D-1462-08	13672765	53595734	101674826	78	27974											
PJA1	64219	broad.mit.edu	37	X	68382878	68382878	+	Silent	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:68382878G>A	ENST00000361478.1	-	2	581	c.204C>T	c.(202-204)agC>agT	p.S68S	PJA1_ENST00000374584.3_Silent_p.S68S|PJA1_ENST00000374583.1_Silent_p.S68S|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Silent_p.S13S	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	68					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATGGCGATCGGCTCCTCTTGG	0.542																																																0													165	146	152					X																	68382878		2203	4300	6503	SO:0001819	synonymous_variant	64219			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.204C>T	X.37:g.68382878G>A			A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	ENST00000361478.1	37	CCDS14393.1																																																																																				0.542	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		A	68382878	G	A	68382878	2	1	523	1	0	0	0	0	0	0	0	1	11963	1194	42	2		2	PJA1	23	68382878	Silent	SNP	G	TCGA-CJ-4900-01A-01D-1462-08	14787144	68382878	86887682	79	27975											
ODZ1	10178	broad.mit.edu	37	X	123680911	123680911	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:123680911A>G	ENST00000371130.3	-	15	2527	c.2464T>C	c.(2464-2466)Tgt>Cgt	p.C822R	TENM1_ENST00000422452.2_Missense_Mutation_p.C822R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	822					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGTTGACAACAGTCAGGATCC	0.383																																																0													114	96	102					X																	123680911		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2464T>C	X.37:g.123680911A>G	ENSP00000360171:p.Cys822Arg		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506075	0.64410	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.13420	2.59;2.59	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.87578	0.991;0.997;0.998	T	0.50972	-0.8764	10	0.87932	D	0	.	14.3085	0.66400	1.0:0.0:0.0:0.0	.	821;822;822	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	822	ENSP00000360171:C822R;ENSP00000403954:C822R	ENSP00000360171:C822R	C	-	1	0	ODZ1	123508592	1.000000	0.71417	0.972000	0.41901	0.697000	0.40408	8.761000	0.91691	1.955000	0.56771	0.481000	0.45027	TGT		0.383	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		G	123680911	A	G	123680911	3	3	523	1	0	0	0	0	1	0	0	0	10836	188	7	3	5806	3	ODZ1	23	123680911	Missense_Mutation	SNP	A	TCGA-CJ-4900-01A-01D-1462-08	55298033	123680911	31589649	80	27976											
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16203144	16203144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr1:16203144delC	ENST00000375759.3	+	3	1056	c.852delC	c.(850-852)atcfs	p.I284fs	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	284	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTGATTCAATCAGCAGCAGCA	0.473																																																0													79	75	76					1																	16203144		2192	4273	6465	SO:0001589	frameshift_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.852delC	1.37:g.16203144delC	ENSP00000364912:p.Ile284fs		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	CCDS164.1																																																																																				0.473	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		-	16203144	C	-	16203144	7	5	524	1	0	1	0	1	0	0	0	0	15043	816	29	0	862	0	SPEN	1	16203144	Frame_Shift_Del	DEL	C	TCGA-CJ-4901-01A-01D-1429-08		16203144	233047477	1	27977											
EPHB2	2048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	23191471	23191471	+	Missense_Mutation	SNP	G	G	A	rs528777153	byFrequency	TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr1:23191471G>A	ENST00000400191.3	+	5	1087	c.1069G>A	c.(1069-1071)Gtc>Atc	p.V357I	EPHB2_ENST00000374632.3_Missense_Mutation_p.V357I|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.V351I|EPHB2_ENST00000544305.1_Missense_Mutation_p.V357I|EPHB2_ENST00000374630.3_Missense_Mutation_p.V357I|MIR4253_ENST00000581187.1_RNA	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	357	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.V357I(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGAGGACCTCGTCTACAACAT	0.647													G|||	4	0.000798722	0.0	0.0	5008	,	,		16456	0.0		0.0	False		,,,				2504	0.0041															1	Substitution - Missense(1)	kidney(1)											64	71	68					1																	23191471		2203	4300	6503	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1069G>A	1.37:g.23191471G>A	ENSP00000383053:p.Val357Ile		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37		.	.	.	.	.	.	.	.	.	.	G	17.85	3.489664	0.64074	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.41	5.41	0.78517	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.52008	0.1708	M	0.61703	1.905	0.41412	D	0.987745	B;P;P;P	0.47545	0.029;0.897;0.897;0.756	B;B;B;B	0.43386	0.005;0.418;0.418;0.216	T	0.57435	-0.7812	10	0.59425	D	0.04	.	11.3592	0.49633	0.0824:0.0:0.9176:0.0	.	357;357;375;357	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	I	357;357;357;357;357;351	ENSP00000444174:V357I;ENSP00000363761:V357I;ENSP00000383053:V357I;ENSP00000363763:V357I;ENSP00000363758:V351I	ENSP00000363755:V357I	V	+	1	0	EPHB2	23064058	1.000000	0.71417	0.808000	0.32385	0.981000	0.71138	5.628000	0.67791	2.816000	0.96949	0.563000	0.77884	GTC		0.647	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		A	23191471	G	A	23191471	3	1	524	1	0	0	0	0	1	0	0	0	5177	1145	40	1	1087	1	EPHB2	1	23191471	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	6988327	23191471	226059150	2	27978											
WDR63	126820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	85564293	85564293	+	Silent	SNP	A	A	G	rs368650006		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr1:85564293A>G	ENST00000294664.6	+	13	1611	c.1431A>G	c.(1429-1431)ggA>ggG	p.G477G	WDR63_ENST00000370596.1_Silent_p.G438G|WDR63_ENST00000326813.8_Silent_p.G438G	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	477								p.G477G(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TAGAAAATGGACATAAGAAAG	0.348																																																1	Substitution - coding silent(1)	kidney(1)											103	106	105					1																	85564293		2203	4297	6500	SO:0001819	synonymous_variant	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1431A>G	1.37:g.85564293A>G			A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	CCDS702.1																																																																																				0.348	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		G	85564293	A	G	85564293	2	3	524	1	0	0	0	0	0	0	0	1	17319	262	10	3		3	WDR63	1	85564293	Silent	SNP	A	TCGA-CJ-4901-01A-01D-1429-08	62372822	85564293	163686328	3	27979											
NRXN1	9378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	50779973	50779973	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr2:50779973A>T	ENST00000406316.2	-	9	2987	c.1511T>A	c.(1510-1512)aTa>aAa	p.I504K	NRXN1_ENST00000401669.2_Missense_Mutation_p.I504K|NRXN1_ENST00000402717.3_Missense_Mutation_p.I496K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.I496K|NRXN1_ENST00000404971.1_Missense_Mutation_p.I544K|NRXN1_ENST00000406859.3_Missense_Mutation_p.I504K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	504	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.I544K(1)|p.I545K(1)|p.I504K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATCAAATGATATGGAGCCAGT	0.408																																																3	Substitution - Missense(3)	kidney(3)											157	146	150					2																	50779973		1876	4094	5970	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1511T>A	2.37:g.50779973A>T	ENSP00000384311:p.Ile504Lys		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810585	0.90707	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.88355	0.6414	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;D;D	0.85130	0.997;0.982;0.997	D	0.91247	0.5026	10	0.87932	D	0	.	16.371	0.83361	1.0:0.0:0.0:0.0	.	544;504;496	Q9ULB1-3;F8WB18;A7E294	.;.;.	K	544;504;496;504;545;496;504	ENSP00000385142:I544K;ENSP00000384311:I504K;ENSP00000434015:I496K;ENSP00000385017:I504K;ENSP00000385434:I496K;ENSP00000385681:I504K	ENSP00000385017:I504K	I	-	2	0	NRXN1	50633477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.267000	0.75376	0.477000	0.44152	ATA		0.408	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50779973	A	T	50779973	3	4	524	1	0	0	0	0	1	0	0	0	10667	449	16	5	3335	5	NRXN1	2	50779973	Missense_Mutation	SNP	A	TCGA-CJ-4901-01A-01D-1429-08		50779973	192419400	4	27980											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179436709	179436709	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr2:179436709G>A	ENST00000591111.1	-	276	69451	c.69227C>T	c.(69226-69228)gCc>gTc	p.A23076V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A15652V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A24717V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A15777V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15844V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A22149V|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23076	Ig-like 118.				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)	p.A22149V(1)|p.A15777V(1)|p.A15844V(1)|p.A22147V(1)|p.A15652V(1)		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)			GAGTTTGAAGGCTGGTGGAAT	0.468																																																5	Substitution - Missense(5)	kidney(5)											51	49	50					2																	179436709		1943	4139	6082	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69227C>T	2.37:g.179436709G>A	ENSP00000465570:p.Ala23076Val		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	19.64	3.865811	0.71949	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	6.07	5.18	0.71444	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31358	0.0794	N	0.16233	0.39	0.48830	D	0.999712	B;B;B;B	0.18166	0.026;0.026;0.026;0.014	B;B;B;B	0.18561	0.022;0.022;0.022;0.015	T	0.08932	-1.0698	9	0.87932	D	0	.	15.767	0.78135	0.0658:0.0:0.9342:0.0	.	15652;15777;15844;23076	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	22149;15652;15844;15777;15650	ENSP00000343764:A22149V;ENSP00000434586:A15652V;ENSP00000340554:A15844V;ENSP00000352154:A15777V	ENSP00000340554:A15844V	A	-	2	0	TTN	179144955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.555000	0.67301	1.554000	0.49487	0.650000	0.86243	GCC		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179436709	G	A	179436709	3	1	524	1	0	0	0	0	1	0	0	0	16740	1203	42	2	33977	2	TTN	2	179436709	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	128656736	179436709	63762664	5	27981											
CADM2	253559	broad.mit.edu;hgsc.bcm.edu	37	3	85961624	85961624	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr3:85961624A>T	ENST00000407528.2	+	5	666	c.604A>T	c.(604-606)Atc>Ttc	p.I202F	CADM2_ENST00000405615.2_Missense_Mutation_p.I204F|CADM2_ENST00000383699.3_Missense_Mutation_p.I211F	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	202	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I211F(1)|p.I204F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTGGCGGTCATCTGCAGAGT	0.473																																																2	Substitution - Missense(2)	kidney(2)											95	76	82					3																	85961624		2203	4300	6503	SO:0001583	missense	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.604A>T	3.37:g.85961624A>T	ENSP00000384575:p.Ile202Phe		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458992	0.63401	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.75704	-0.96;-0.96;-0.96	5.5	4.36	0.52297	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.193302	0.53938	D	0.000046	T	0.68128	0.2967	L	0.42245	1.32	0.38088	D	0.936879	B;B;B	0.34372	0.451;0.396;0.45	B;B;B	0.38378	0.212;0.178;0.272	T	0.70303	-0.4909	10	0.66056	D	0.02	.	9.7565	0.40506	0.9134:0.0:0.0865:0.0	.	204;211;202	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	F	211;202;204	ENSP00000373200:I211F;ENSP00000384575:I202F;ENSP00000384193:I204F	ENSP00000373200:I211F	I	+	1	0	CADM2	86044314	1.000000	0.71417	0.759000	0.31340	0.937000	0.57800	4.859000	0.62954	0.916000	0.36871	0.482000	0.46254	ATC		0.473	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		T	85961624	A	T	85961624	3	4	524	1	0	0	0	0	1	0	0	0	2569	217	8	5	693	5	CADM2	3	85961624	Missense_Mutation	SNP	A	TCGA-CJ-4901-01A-01D-1429-08		85961624	112060806	6	27982											
ATP6V1A	523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113499964	113499964	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr3:113499964G>T	ENST00000273398.3	+	3	258	c.150G>T	c.(148-150)ttG>ttT	p.L50F	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L17F	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	50					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.L50F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	ACAGCGAATTGGTTGGAGAGA	0.438																																																1	Substitution - Missense(1)	kidney(1)											179	163	169					3																	113499964		2203	4300	6503	SO:0001583	missense	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.150G>T	3.37:g.113499964G>T	ENSP00000273398:p.Leu50Phe		B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813325	0.70912	.	.	ENSG00000114573	ENST00000273398;ENST00000538620;ENST00000496747;ENST00000475322	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.62	2.84	0.33178	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.95053	0.8398	H	0.99336	4.52	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	D	0.92480	0.5992	10	0.87932	D	0	-11.8292	5.1575	0.15042	0.2816:0.0:0.5865:0.1319	.	50	P38606	VATA_HUMAN	F	50;17;17;50	ENSP00000273398:L50F;ENSP00000439874:L17F;ENSP00000417545:L17F;ENSP00000419294:L50F	ENSP00000273398:L50F	L	+	3	2	ATP6V1A	114982654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.906000	0.48735	0.727000	0.32360	0.591000	0.81541	TTG		0.438	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		T	113499964	G	T	113499964	3	4	524	1	0	0	0	0	1	0	0	0	1177	1339	47	4	156	4	ATP6V1A	3	113499964	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	27538340	113499964	84522466	7	27983											
TRPC1	7220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142509938	142509938	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr3:142509938A>T	ENST00000476941.1	+	8	1861	c.1375A>T	c.(1375-1377)Agt>Tgt	p.S459C	TRPC1_ENST00000273482.6_Missense_Mutation_p.S425C	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	459					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.S425C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TAATCAACTCAGTTTTGTCAT	0.363																																																1	Substitution - Missense(1)	kidney(1)											128	135	133					3																	142509938		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1375A>T	3.37:g.142509938A>T	ENSP00000419313:p.Ser459Cys		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.365853	0.82463	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98493	-4.96;-4.96	5.57	4.4	0.53042	Ion transport (1);	0.037607	0.85682	D	0.000000	D	0.98099	0.9373	L	0.55481	1.735	0.58432	D	0.999999	D;D;D	0.60575	0.988;0.988;0.983	P;P;P	0.61533	0.89;0.89;0.753	D	0.98166	1.0449	10	0.87932	D	0	-28.4411	12.8515	0.57860	0.8638:0.1362:0.0:0.0	.	425;459;425	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	C	459;425;26	ENSP00000419313:S459C;ENSP00000273482:S425C	ENSP00000273482:S425C	S	+	1	0	TRPC1	143992628	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.741000	0.68638	0.920000	0.36970	0.528000	0.53228	AGT		0.363	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		T	142509938	A	T	142509938	3	4	524	1	0	0	0	0	1	0	0	0	16583	188	7	5	1299	5	TRPC1	3	142509938	Missense_Mutation	SNP	A	TCGA-CJ-4901-01A-01D-1429-08	29009974	142509938	55512492	8	27984											
SERPINI2	5276	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167184993	167184993	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr3:167184993C>A	ENST00000476257.1	-	4	626	c.328G>T	c.(328-330)Gcc>Tcc	p.A110S	SERPINI2_ENST00000465031.1_5'Flank|SERPINI2_ENST00000264677.4_Missense_Mutation_p.A110S|SERPINI2_ENST00000471111.1_Missense_Mutation_p.A110S|SERPINI2_ENST00000461846.1_Missense_Mutation_p.A110S			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	110					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A110S(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGGTAGAGGGCATTGGCAAGA	0.343																																																1	Substitution - Missense(1)	kidney(1)											120	120	120					3																	167184993		2203	4300	6503	SO:0001583	missense	5276			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.328G>T	3.37:g.167184993C>A	ENSP00000420621:p.Ala110Ser			Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703333	0.30232	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.65	5.65	0.86999	Serpin domain (3);	0.233852	0.42821	D	0.000655	D	0.86481	0.5943	L	0.31157	0.91	0.36972	D	0.893893	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	D	0.83665	0.0163	10	0.13853	T	0.58	.	14.9388	0.70978	0.0:0.9297:0.0:0.0703	.	110;110	B4DDY9;O75830	.;SPI2_HUMAN	S	110;110;110;110;110;95	ENSP00000420621:A110S;ENSP00000417692:A110S;ENSP00000264677:A110S;ENSP00000419407:A110S;ENSP00000417752:A110S;ENSP00000419255:A95S	ENSP00000264677:A110S	A	-	1	0	SERPINI2	168667687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.187000	0.50950	2.672000	0.90937	0.655000	0.94253	GCC		0.343	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		A	167184993	C	A	167184993	3	1	524	1	0	0	0	0	1	0	0	0	14125	710	25	4	917	4	SERPINI2	3	167184993	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08	24675055	167184993	30837437	9	27985											
PSMD2	5708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184019697	184019697	+	Missense_Mutation	SNP	G	G	A	rs201776756	byFrequency	TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr3:184019697G>A	ENST00000310118.4	+	5	1100	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	PSMD2_ENST00000459910.1_3'UTR|PSMD2_ENST00000435761.1_Missense_Mutation_p.R22Q|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.R51Q	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	181					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 protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.R181Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AAGGTCCAGCGGGAGCCTCTG	0.542													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16701	0.0		0.001	False		,,,				2504	0.0				Colon(24;313 636 6917 9932 15554)											1	Substitution - Missense(1)	kidney(1)											83	81	82					3																	184019697		2203	4300	6503	SO:0001583	missense	5708			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.542G>A	3.37:g.184019697G>A	ENSP00000310129:p.Arg181Gln		B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	CCDS3258.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.189	1.025588	0.19512	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.40756	1.02;1.94;1.94	4.69	3.82	0.43975	Armadillo-type fold (1);	0.125717	0.53938	D	0.000054	T	0.22205	0.0535	N	0.17474	0.49	0.33892	D	0.637441	B;B	0.12630	0.006;0.003	B;B	0.09377	0.004;0.001	T	0.22695	-1.0209	10	0.12766	T	0.61	-12.7471	7.8299	0.29336	0.2492:0.0:0.7508:0.0	.	22;181	E9PCS3;Q13200	.;PSMD2_HUMAN	Q	181;173;22;51	ENSP00000310129:R181Q;ENSP00000402618:R22Q;ENSP00000416028:R51Q	ENSP00000310129:R181Q	R	+	2	0	PSMD2	185502391	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	4.362000	0.59467	1.200000	0.43188	0.603000	0.83216	CGG		0.542	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		A	184019697	G	A	184019697	3	1	524	1	0	0	0	0	1	0	0	0	12703	1116	39	1	560	1	PSMD2	3	184019697	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	16834704	184019697	14002733	10	27986											
C4orf40	401137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71024217	71024217	+	Missense_Mutation	SNP	G	G	T	rs149016682		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr4:71024217G>T	ENST00000344526.5	+	3	437	c.248G>T	c.(247-249)gGa>gTa	p.G83V	C4orf40_ENST00000502294.1_Missense_Mutation_p.G83V|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		83	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)		p.G83V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACTTCTCCTGGATTCCCCTAT	0.488																																																1	Substitution - Missense(1)	kidney(1)											249	231	237					4																	71024217		2203	4300	6503	SO:0001583	missense	401137																														ENST00000344526.5:c.248G>T	4.37:g.71024217G>T	ENSP00000343172:p.Gly83Val		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308747	0.40895	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.34667	1.35;1.35	4.18	1.33	0.21861	.	.	.	.	.	T	0.32224	0.0822	N	0.24115	0.695	0.09310	N	1	D	0.61697	0.99	P	0.56865	0.808	T	0.10660	-1.0620	9	0.48119	T	0.1	-0.8925	2.6764	0.05082	0.2514:0.0:0.519:0.2296	.	83	Q6MZM9	CD040_HUMAN	V	83	ENSP00000426249:G83V;ENSP00000343172:G83V	ENSP00000343172:G83V	G	+	2	0	C4orf40	71058806	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.130000	0.15850	0.436000	0.26393	0.609000	0.83330	GGA		0.488	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			T	71024217	G	T	71024217	3	4	524	1	0	0	0	0	1	0	0	0	2271	1174	41	4	258	4	C4orf40	4	71024217	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08		71024217	120130059	11	27987											
C4orf36	132989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87808950	87808950	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr4:87808950C>G	ENST00000473559.1	-	7	980	c.317G>C	c.(316-318)aGg>aCg	p.R106T	C4orf36_ENST00000503001.1_5'Flank|C4orf36_ENST00000295898.3_Missense_Mutation_p.R106T			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	106								p.R106T(1)		breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		ACCGGCTGGCCTTTCCCTCAG	0.433																																																1	Substitution - Missense(1)	kidney(1)											126	119	121					4																	87808950		2203	4300	6503	SO:0001583	missense	132989			BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.317G>C	4.37:g.87808950C>G	ENSP00000420949:p.Arg106Thr			Missense_Mutation	SNP	ENST00000473559.1	37	CCDS3615.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887315	0.52014	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308	T;T;T	0.35789	1.29;1.29;1.29	5.33	-2.04	0.07343	.	0.566136	0.17732	N	0.163867	T	0.25754	0.0627	N	0.24115	0.695	0.09310	N	1	P	0.36535	0.557	B	0.41860	0.368	T	0.27088	-1.0084	10	0.66056	D	0.02	-5.6638	10.1045	0.42524	0.0:0.3303:0.0:0.6697	.	106	Q96KX1	CD036_HUMAN	T	106	ENSP00000295898:R106T;ENSP00000420949:R106T;ENSP00000421141:R106T	ENSP00000295898:R106T	R	-	2	0	C4orf36	88027974	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-1.537000	0.02206	-0.328000	0.08539	0.561000	0.74099	AGG		0.433	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253045.2	NM_144645		G	87808950	C	G	87808950	3	3	524	1	0	0	0	0	1	0	0	0	2268	681	24	4	40	4	C4orf36	4	87808950	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08	16784733	87808950	103345326	12	27988											
ADH1B	125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	100232771	100232771	+	Missense_Mutation	SNP	C	C	T	rs140683864		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr4:100232771C>T	ENST00000305046.8	-	7	938	c.871G>A	c.(871-873)Gtc>Atc	p.V291I	ADH1B_ENST00000394887.3_Missense_Mutation_p.V251I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	291					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.V291I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CCTACGATGACGCTTGTGCCA	0.478																																																1	Substitution - Missense(1)	kidney(1)						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	221	205	211		871	3.7	0	4	dbSNP_134	211	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADH1B	NM_000668.4	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	291/376	100232771	2,13004	2203	4300	6503	SO:0001583	missense	125			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.871G>A	4.37:g.100232771C>T	ENSP00000306606:p.Val291Ile		A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251255	0.80135	2.27E-4	1.16E-4	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.19806	2.12;2.12	3.66	3.66	0.41972	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.063541	0.64402	D	0.000008	T	0.35856	0.0946	M	0.74647	2.275	0.80722	D	1	B;B;B	0.29301	0.202;0.241;0.023	B;B;B	0.42386	0.37;0.386;0.383	T	0.34950	-0.9808	10	0.44086	T	0.13	-15.5662	15.3228	0.74135	0.0:1.0:0.0:0.0	.	278;251;291	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	I	291;251;278	ENSP00000306606:V291I;ENSP00000378351:V251I	ENSP00000306606:V291I	V	-	1	0	ADH1B	100451794	1.000000	0.71417	0.022000	0.16811	0.027000	0.11550	5.057000	0.64294	1.722000	0.51474	0.561000	0.74099	GTC		0.478	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		T	100232771	C	T	100232771	3	4	524	1	0	0	0	0	1	0	0	0	308	536	19	1	268	1	ADH1B	4	100232771	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08	12423821	100232771	90921505	13	27989											
C4orf21	55345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	113540750	113540750	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr4:113540750T>C	ENST00000505019.1	-	6	573	c.448A>G	c.(448-450)Att>Gtt	p.I150V	C4orf21_ENST00000445203.2_Missense_Mutation_p.I119V|C4orf21_ENST00000309071.5_Missense_Mutation_p.I150V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		150						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.I150V(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GGAGAAAAAATAGTAGGGCCA	0.413																																																2	Substitution - Missense(2)	kidney(2)											64	69	67					4																	113540750		2202	4300	6502	SO:0001583	missense	55345																														ENST00000505019.1:c.448A>G	4.37:g.113540750T>C	ENSP00000424737:p.Ile150Val		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	T	3.369	-0.128758	0.06753	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203;ENST00000503172	T;T;T	0.81330	-1.48;2.02;1.6	5.43	-0.391	0.12446	.	0.571573	0.16854	N	0.196803	T	0.57213	0.2038	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.004	B;B	0.11329	0.002;0.006	T	0.45234	-0.9275	10	0.45353	T	0.12	-3.3954	5.2162	0.15344	0.6526:0.0:0.2251:0.1223	.	150;150	Q86YA3;G5EA02	CD021_HUMAN;.	V	150;150;119;150	ENSP00000424737:I150V;ENSP00000309095:I150V;ENSP00000390505:I119V	ENSP00000309095:I150V	I	-	1	0	C4orf21	113760199	0.044000	0.20184	0.000000	0.03702	0.021000	0.10359	1.417000	0.34770	-0.251000	0.09542	-0.417000	0.06048	ATT		0.413	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			C	113540750	T	C	113540750	3	2	524	1	0	0	0	0	1	0	0	0	2256	1406	49	3	5958	3	C4orf21	4	113540750	Missense_Mutation	SNP	T	TCGA-CJ-4901-01A-01D-1429-08	13307979	113540750	77613526	14	27990											
RAPGEF2	9693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	160275160	160275160	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr4:160275160A>T	ENST00000264431.4	+	22	4549	c.4130A>T	c.(4129-4131)cAc>cTc	p.H1377L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1377					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.H1365L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATGCCTGCCCACATAGCTGTG	0.453																																																2	Substitution - Missense(2)	kidney(1)|central_nervous_system(1)											41	42	42					4																	160275160		1887	4087	5974	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4130A>T	4.37:g.160275160A>T	ENSP00000264431:p.His1377Leu		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593368	0.46214	.	.	ENSG00000109756	ENST00000264431	T	0.36878	1.23	6.17	6.17	0.99709	.	0.101533	0.64402	D	0.000002	T	0.33789	0.0875	L	0.36672	1.1	0.46113	D	0.998877	B	0.22909	0.077	B	0.23275	0.045	T	0.07539	-1.0767	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1377	Q9Y4G8	RPGF2_HUMAN	L	1377	ENSP00000264431:H1377L	ENSP00000264431:H1377L	H	+	2	0	RAPGEF2	160494610	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	4.766000	0.62279	2.371000	0.80710	0.533000	0.62120	CAC		0.453	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		T	160275160	A	T	160275160	3	4	524	1	0	0	0	0	1	0	0	0	13050	159	6	5	4216	5	RAPGEF2	4	160275160	Missense_Mutation	SNP	A	TCGA-CJ-4901-01A-01D-1429-08	46734410	160275160	30879116	15	27991											
ESM1	11082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54277917	54277917	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr5:54277917C>T	ENST00000381405.4	-	2	504	c.359G>A	c.(358-360)gGc>gAc	p.G120D	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	120					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)	p.G120D(1)		breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GTCACAGATGCCTGACTGGCA	0.507																																																1	Substitution - Missense(1)	kidney(1)											108	102	104					5																	54277917		2203	4300	6503	SO:0001583	missense	11082			X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.359G>A	5.37:g.54277917C>T	ENSP00000370812:p.Gly120Asp		B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102832	0.94245	.	.	ENSG00000164283	ENST00000381405	T	0.33654	1.4	5.78	4.88	0.63580	.	0.110120	0.64402	D	0.000010	T	0.48295	0.1492	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.45614	-0.9249	10	0.59425	D	0.04	-17.7412	16.2261	0.82293	0.1335:0.8665:0.0:0.0	.	120	Q9NQ30	ESM1_HUMAN	D	120	ENSP00000370812:G120D	ENSP00000370812:G120D	G	-	2	0	ESM1	54313674	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	5.550000	0.67268	2.734000	0.93682	0.563000	0.77884	GGC		0.507	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		T	54277917	C	T	54277917	3	4	524	1	0	0	0	0	1	0	0	0	5254	739	26	2	203	2	ESM1	5	54277917	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08		54277917	126637343	16	27992											
PCDHB16	57717	broad.mit.edu	37	5	140564017	140564017	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr5:140564017G>T	ENST00000361016.2	+	1	3038	c.1883G>T	c.(1882-1884)aGg>aTg	p.R628M		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R628M(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACCGCCAGGCTGCTGAGC	0.692																																																1	Substitution - Missense(1)	kidney(1)											23	24	24					5																	140564017		2048	4022	6070	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1883G>T	5.37:g.140564017G>T	ENSP00000354293:p.Arg628Met		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	18.25	3.581869	0.65992	.	.	ENSG00000196963	ENST00000361016	T	0.53857	0.6	3.96	3.96	0.45880	Cadherin (4);Cadherin-like (1);	0.000000	0.35207	N	0.003380	T	0.75598	0.3871	M	0.87328	2.875	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70714	-0.4796	10	0.87932	D	0	.	15.696	0.77499	0.0:0.0:1.0:0.0	.	628	Q9NRJ7	PCDBG_HUMAN	M	628	ENSP00000354293:R628M	ENSP00000354293:R628M	R	+	2	0	PCDHB16	140544201	0.020000	0.18652	0.861000	0.33841	0.813000	0.45954	2.123000	0.41996	1.771000	0.52183	0.298000	0.19748	AGG		0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		T	140564017	G	T	140564017	3	4	524	1	0	0	0	0	1	0	0	0	11543	1000	35	4	1885	4	PCDHB16	5	140564017	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	86286100	140564017	40351243	17	27993											
DOCK4	9732	broad.mit.edu;hgsc.bcm.edu	37	7	111517174	111517174	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr7:111517174G>T	ENST00000437633.1	-	17	1912	c.1656C>A	c.(1654-1656)ttC>ttA	p.F552L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.F552L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	552	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.F552L(1)|p.F540L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TATTCCCAAGGAAAATGCCCT	0.348																																																2	Substitution - Missense(2)	kidney(2)											64	66	65					7																	111517174		1819	4092	5911	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1656C>A	7.37:g.111517174G>T	ENSP00000404179:p.Phe552Leu		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.179|8.179	0.793491|0.793491	0.16327|0.16327	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000423057;ENST00000445943	T;T|.	0.02656|.	4.21;4.21|.	6.06|6.06	5.19|5.19	0.71726|0.71726	.|.	0.455201|.	0.25929|.	N|.	0.027393|.	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.00879|0.00879	-1.12|-1.12	0.80722|0.80722	D|D	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.002;0.002;0.001|.	T|T	0.11372|0.11372	-1.0590|-1.0590	10|5	0.06365|.	T|.	0.9|.	.|.	7.1962|7.1962	0.25853|0.25853	0.139:0.0:0.7219:0.1391|0.139:0.0:0.7219:0.1391	.|.	552;552;552|.	Q149N2;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	L|Y	540;552;552;540;551|4;540	ENSP00000410746:F552L;ENSP00000404179:F552L|.	ENSP00000345432:F540L|.	F|S	-|-	3|2	2|0	DOCK4|DOCK4	111304410|111304410	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.973000|0.973000	0.67179|0.67179	0.772000|0.772000	0.26647|0.26647	1.575000|1.575000	0.49775|0.49775	0.650000|0.650000	0.86243|0.86243	TTC|TCC		0.348	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		T	111517174	G	T	111517174	3	4	524	1	0	0	0	0	1	0	0	0	4691	1165	41	4	4388	4	DOCK4	7	111517174	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08		111517174	47621489	18	27994											
ZNF800	168850	broad.mit.edu;hgsc.bcm.edu	37	7	127014965	127014965	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr7:127014965G>T	ENST00000393313.1	-	5	1016	c.425C>A	c.(424-426)gCa>gAa	p.A142E	ZNF800_ENST00000393312.1_Missense_Mutation_p.A142E|ZNF800_ENST00000265827.3_Missense_Mutation_p.A142E|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A142E(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTGAAATACTGCATTTTGATT	0.368																																																2	Substitution - Missense(2)	kidney(2)											105	103	103					7																	127014965		2203	4300	6503	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.425C>A	7.37:g.127014965G>T	ENSP00000376989:p.Ala142Glu		Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492071	0.64074	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602	T;T;T;T	0.65549	1.31;1.31;1.31;-0.16	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	L	0.34521	1.04	0.34832	D	0.739814	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.74222	-0.3735	9	0.72032	D	0.01	-4.4082	18.7799	0.91928	0.0:0.0:1.0:0.0	.	45;142	B7Z4V7;Q2TB10	.;ZN800_HUMAN	E	142	ENSP00000376989:A142E;ENSP00000265827:A142E;ENSP00000376988:A142E;ENSP00000403945:A142E	ENSP00000265827:A142E	A	-	2	0	ZNF800	126802201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.816000	0.91979	2.685000	0.91497	0.650000	0.86243	GCA		0.368	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		T	127014965	G	T	127014965	3	4	524	1	0	0	0	0	1	0	0	0	18174	1319	46	4	1577	4	ZNF800	7	127014965	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	15497791	127014965	32123698	19	27995											
CTSB	1508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	11710851	11710851	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr8:11710851T>G	ENST00000353047.6	-	2	366	c.113A>C	c.(112-114)aAt>aCt	p.N38T	CTSB_ENST00000533455.1_Missense_Mutation_p.N38T|CTSB_ENST00000345125.3_Missense_Mutation_p.N38T|CTSB_ENST00000453527.2_Missense_Mutation_p.N38T|CTSB_ENST00000531089.1_Missense_Mutation_p.N38T|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000530640.2_Missense_Mutation_p.N38T|CTSB_ENST00000415599.2_Missense_Mutation_p.N38T|CTSB_ENST00000434271.1_Missense_Mutation_p.N38T|CTSB_ENST00000534510.1_Missense_Mutation_p.N38T	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	38					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.N38T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCACGTGGTATTCCGTTTGTT	0.602																																																1	Substitution - Missense(1)	kidney(1)											153	115	128					8																	11710851		2203	4300	6503	SO:0001583	missense	1508			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"Cathepsins"	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.113A>C	8.37:g.11710851T>G	ENSP00000345672:p.Asn38Thr		B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177693	0.38413	.	.	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000415599;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645;ENST00000530573;ENST00000505496;ENST00000524500;ENST00000531502;ENST00000527215;ENST00000532656;ENST00000534382;ENST00000528965	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.16	5.16	0.70880	Peptidase C1A, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	M	0.87456	2.885	0.58432	D	0.99999	B	0.24533	0.105	B	0.33890	0.172	T	0.59188	-0.7501	10	0.56958	D	0.05	.	14.1793	0.65564	0.0:0.0:0.0:1.0	.	38	P07858	CATB_HUMAN	T	38	ENSP00000415889:N38T;ENSP00000345672:N38T;ENSP00000435105:N38T;ENSP00000433215:N38T;ENSP00000409917:N38T;ENSP00000411254:N38T;ENSP00000342070:N38T;ENSP00000432244:N38T;ENSP00000434217:N38T;ENSP00000436159:N38T;ENSP00000433995:N38T;ENSP00000435074:N38T;ENSP00000436627:N38T;ENSP00000434725:N38T;ENSP00000436122:N38T;ENSP00000431518:N38T;ENSP00000435650:N38T;ENSP00000436074:N38T;ENSP00000435886:N38T;ENSP00000431143:N38T;ENSP00000435260:N38T;ENSP00000433929:N38T	ENSP00000342070:N38T	N	-	2	0	CTSB	11748260	1.000000	0.71417	0.820000	0.32676	0.260000	0.26232	5.682000	0.68182	1.937000	0.56155	0.379000	0.24179	AAT		0.602	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		G	11710851	T	G	11710851	3	3	524	1	0	0	0	0	1	0	0	0	4032	1493	52	5	942	5	CTSB	8	11710851	Missense_Mutation	SNP	T	TCGA-CJ-4901-01A-01D-1429-08		11710851	134653171	20	27996											
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113301593	113301593	+	Splice_Site	SNP	C	C	A	rs200499629		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr8:113301593C>A	ENST00000297405.5	-	57	9393		c.e57+1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAAGTGGTACCTGAACAATG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						2	Unknown(2)	kidney(2)											130	128	128					8																	113301593		2203	4299	6502	SO:0001630	splice_region_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9148+1G>T	8.37:g.113301593C>A			Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908283	0.92107	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113370769	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.732000	0.84908	2.941000	0.99782	0.655000	0.94253	.		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	A	113301593	C	A	113301593	5	1	524	1	0	0	0	0	0	0	1	0	3948	521	18	4	2034	4	CSMD3	8	113301593	Splice_Site	SNP	C	TCGA-CJ-4901-01A-01D-1429-08	101590742	113301593	33062429	21	27997											
FAM83A	84985	broad.mit.edu;hgsc.bcm.edu	37	8	124204198	124204198	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr8:124204198C>A	ENST00000518448.1	+	3	2650	c.636C>A	c.(634-636)gaC>gaA	p.D212E	FAM83A_ENST00000536633.1_Missense_Mutation_p.D212E|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000276699.6_Missense_Mutation_p.D212E|FAM83A_ENST00000318462.6_Missense_Mutation_p.D212E			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	212								p.D212E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGATCTCTGACAGTCACCTCA	0.498																																																1	Substitution - Missense(1)	kidney(1)											159	140	147					8																	124204198		2203	4300	6503	SO:0001583	missense	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.636C>A	8.37:g.124204198C>A	ENSP00000428876:p.Asp212Glu		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378674	0.24944	.	.	ENSG00000147689	ENST00000518448;ENST00000536633;ENST00000318462;ENST00000276699	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.57	2.75	0.32379	.	0.218133	0.47093	D	0.000247	T	0.07324	0.0185	L	0.28458	0.855	0.54753	D	0.999982	B;B	0.25772	0.049;0.134	B;B	0.23574	0.018;0.047	T	0.25502	-1.0130	10	0.02654	T	1	-42.3694	6.8124	0.23812	0.0:0.6005:0.1636:0.2359	.	212;212	Q86UY5-3;Q86UY5	.;FA83A_HUMAN	E	212	ENSP00000428876:D212E;ENSP00000445218:D212E;ENSP00000323034:D212E;ENSP00000276699:D212E	ENSP00000276699:D212E	D	+	3	2	FAM83A	124273379	1.000000	0.71417	0.549000	0.28204	0.976000	0.68499	1.145000	0.31577	0.278000	0.22164	0.561000	0.74099	GAC		0.498	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		A	124204198	C	A	124204198	3	1	524	1	0	0	0	0	1	0	0	0	5635	477	17	4	642	4	FAM83A	8	124204198	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08	10902605	124204198	22159824	22	27998											
TLN1	7094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35698342	35698342	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr9:35698342G>A	ENST00000314888.9	-	55	7702	c.7349C>T	c.(7348-7350)tCg>tTg	p.S2450L	TLN1_ENST00000540444.1_Missense_Mutation_p.S2338L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2450	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.S2450L(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATTGCCTCCGAGTCCTGGTC	0.552																																																1	Substitution - Missense(1)	kidney(1)											87	66	73					9																	35698342		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7349C>T	9.37:g.35698342G>A	ENSP00000316029:p.Ser2450Leu		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524505	0.85600	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.64803	-0.12;-0.12	4.94	4.94	0.65067	I/LWEQ (4);	0.253483	0.40385	N	0.001109	D	0.85120	0.5624	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89268	0.3602	10	0.72032	D	0.01	-9.6279	18.021	0.89254	0.0:0.0:1.0:0.0	.	2450	Q9Y490	TLN1_HUMAN	L	2450;2338	ENSP00000316029:S2450L;ENSP00000442981:S2338L	ENSP00000316029:S2450L	S	-	2	0	TLN1	35688342	1.000000	0.71417	0.957000	0.39632	0.891000	0.51852	9.573000	0.98181	2.582000	0.87167	0.650000	0.86243	TCG		0.552	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		A	35698342	G	A	35698342	3	1	524	1	0	0	0	0	1	0	0	0	15952	1059	37	1	288	1	TLN1	9	35698342	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08		35698342	105515089	23	27999											
HNRNPK	3190	broad.mit.edu;hgsc.bcm.edu	37	9	86586212	86586212	+	Missense_Mutation	SNP	T	T	A	rs376555582		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr9:86586212T>A	ENST00000376264.2	-	13	1326	c.1068A>T	c.(1066-1068)gaA>gaT	p.E356D	HNRNPK_ENST00000360384.5_Missense_Mutation_p.E356D|HNRNPK_ENST00000376263.3_Missense_Mutation_p.E356D|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E356D|RP11-575L7.8_ENST00000448389.1_RNA|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000351839.3_Missense_Mutation_p.E356D	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	356	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)	p.E356D(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCATCTGCCATTCTGATGGGC	0.383																																																1	Substitution - Missense(1)	kidney(1)											132	131	131					9																	86586212		2203	4300	6503	SO:0001583	missense	3190				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.1068A>T	9.37:g.86586212T>A	ENSP00000365440:p.Glu356Asp		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.877642	0.72294	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.45	1.9	0.25705	.	0.074706	0.53938	D	0.000055	T	0.26231	0.0640	L	0.36672	1.1	0.32282	N	0.567505	B;B;P;P;B;B;P;B	0.42757	0.38;0.016;0.789;0.789;0.027;0.241;0.745;0.016	B;B;B;B;B;B;B;B	0.40066	0.133;0.008;0.318;0.24;0.018;0.103;0.251;0.008	T	0.32214	-0.9915	10	0.11794	T	0.64	-2.1457	6.355	0.21397	0.0:0.3645:0.0:0.6355	.	332;321;356;351;356;332;356;356	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	D	356;356;356;356;356;321;356;351;332;287	ENSP00000365458:E356D;ENSP00000365440:E356D;ENSP00000365439:E356D;ENSP00000317788:E356D;ENSP00000353552:E356D	ENSP00000317788:E356D	E	-	3	2	HNRNPK	85776032	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	-0.093000	0.11111	0.140000	0.18849	0.533000	0.62120	GAA		0.383	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			A	86586212	T	A	86586212	3	1	524	1	0	0	0	0	1	0	0	0	7271	1490	52	5	381	5	HNRNPK	9	86586212	Missense_Mutation	SNP	T	TCGA-CJ-4901-01A-01D-1429-08	50887870	86586212	54627219	24	28000											
C9orf5	23731	hgsc.bcm.edu;ucsc.edu	37	9	111800395	111800395	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr9:111800395C>A	ENST00000374586.3	-	15	2157	c.2126G>T	c.(2125-2127)gGg>gTg	p.G709V		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	709						integral component of membrane (GO:0016021)		p.G709V(1)									ATCAAACACCCCTCTGGAATG	0.388																																																1	Substitution - Missense(1)	kidney(1)											90	89	90					9																	111800395		1877	4104	5981	SO:0001583	missense	0			AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.2126G>T	9.37:g.111800395C>A	ENSP00000363714:p.Gly709Val		B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	CCDS43858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.626270|4.626270	0.87560|0.87560	.|.	.|.	ENSG00000106771|ENSG00000106771	ENST00000374586;ENST00000223608|ENST00000413712	T|T	0.46819|0.41065	0.86|1.01	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50599|0.50599	0.1625|0.1625	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.989;1.0|.	T|T	0.29912|0.29912	-0.9996|-0.9996	10|7	0.87932|0.15952	D|T	0|0.53	-13.9537|-13.9537	18.9567|18.9567	0.92661|0.92661	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	709;709|.	Q9H330-2;Q9H330|.	.;CI005_HUMAN|.	V|S	709|301	ENSP00000363714:G709V|ENSP00000394798:R301S	ENSP00000223608:G709V|ENSP00000394798:R301S	G|R	-|-	2|3	0|2	C9orf5|C9orf5	110840216|110840216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.831000|0.831000	0.47069|0.47069	7.784000|7.784000	0.85713|0.85713	2.476000|2.476000	0.83614|0.83614	0.313000|0.313000	0.20887|0.20887	GGG|AGG		0.388	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		A	111800395	C	A	111800395	3	1	524	1	0	0	0	0	1	0	0	0	2488	623	22	4	529	4	C9orf5	9	111800395	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08	25214183	111800395	29413036	25	28001											
COL27A1	85301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116999978	116999978	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr9:116999978G>A	ENST00000356083.3	+	19	3101	c.2710G>A	c.(2710-2712)Ggg>Agg	p.G904R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	904	Collagen-like 5.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G904R(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGGTTTCCCGGGCCCCCTGG	0.612																																																1	Substitution - Missense(1)	kidney(1)											66	63	64					9																	116999978		2203	4300	6503	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2710G>A	9.37:g.116999978G>A	ENSP00000348385:p.Gly904Arg		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590530	0.66219	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99353	-5.77	5.66	5.66	0.87406	.	.	.	.	.	D	0.99591	0.9852	H	0.95402	3.665	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.97992	1.0355	9	0.87932	D	0	.	15.2384	0.73450	0.0:0.0:1.0:0.0	.	904	Q8IZC6	CORA1_HUMAN	R	904	ENSP00000348385:G904R	ENSP00000348385:G904R	G	+	1	0	COL27A1	116039799	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.509000	0.73725	2.675000	0.91044	0.655000	0.94253	GGG		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	116999978	G	A	116999978	3	1	524	1	0	0	0	0	1	0	0	0	3687	1116	39	1	2784	1	COL27A1	9	116999978	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	5199583	116999978	24213453	26	28002											
ECHDC3	79746	hgsc.bcm.edu;ucsc.edu	37	10	11805257	11805257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr10:11805257delT	ENST00000379215.4	+	5	837	c.626delT	c.(625-627)attfs	p.I209fs	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	209						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GGTGAGCCCATTTCTGCCCAG	0.637																																																0													75	60	65					10																	11805257		2203	4300	6503	SO:0001589	frameshift_variant	79746			AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.626delT	10.37:g.11805257delT	ENSP00000368517:p.Ile209fs		Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Frame_Shift_Del	DEL	ENST00000379215.4	37	CCDS7084.1																																																																																				0.637	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		-	11805257	T	-	11805257	7	5	524	1	0	1	0	1	0	0	0	0	4897	1493	52	0	644	0	ECHDC3	10	11805257	Frame_Shift_Del	DEL	T	TCGA-CJ-4901-01A-01D-1429-08		11805257	123729490	27	28003											
MYO3A	53904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26417412	26417412	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr10:26417412T>C	ENST00000265944.5	+	20	2373	c.2207T>C	c.(2206-2208)aTt>aCt	p.I736T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	736	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I736T(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGCATTAACATTGCAAATGAA	0.333																																																1	Substitution - Missense(1)	kidney(1)											80	75	77					10																	26417412		2203	4300	6503	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2207T>C	10.37:g.26417412T>C	ENSP00000265944:p.Ile736Thr		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801192	0.90538	.	.	ENSG00000095777	ENST00000265944	T	0.71817	-0.6	5.99	5.99	0.97316	Myosin head, motor domain (3);	0.046492	0.85682	D	0.000000	D	0.82728	0.5100	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.82748	-0.0304	10	0.46703	T	0.11	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	736	Q8NEV4	MYO3A_HUMAN	T	736	ENSP00000265944:I736T	ENSP00000265944:I736T	I	+	2	0	MYO3A	26457418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.291000	0.77112	0.533000	0.62120	ATT		0.333	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		C	26417412	T	C	26417412	3	2	524	1	0	0	0	0	1	0	0	0	10078	1493	52	3	2277	3	MYO3A	10	26417412	Missense_Mutation	SNP	T	TCGA-CJ-4901-01A-01D-1429-08	14612155	26417412	109117335	28	28004											
GDF10	2662	broad.mit.edu	37	10	48429220	48429220	+	Silent	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr10:48429220G>A	ENST00000224605.2	-	2	931	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	222					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.S222S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCAGCTGGGCGGAGAGGAGCA	0.706																																																1	Substitution - coding silent(1)	kidney(1)											10	15	14					10																	48429220		2169	4284	6453	SO:0001819	synonymous_variant	2662			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.666C>T	10.37:g.48429220G>A			Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	CCDS7220.1																																																																																				0.706	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		A	48429220	G	A	48429220	2	1	524	1	0	0	0	0	0	0	0	1	6313	1103	39	1		1	GDF10	10	48429220	Silent	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	22011808	48429220	87105527	29	28005											
CRTAC1	55118	hgsc.bcm.edu;ucsc.edu	37	10	99771036	99771037	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr10:99771036_99771037delGA	ENST00000370597.3	-	2	437_438	c.82_83delTC	c.(82-84)tccfs	p.S28fs	CRTAC1_ENST00000370591.2_Frame_Shift_Del_p.S28fs|CRTAC1_ENST00000298819.4_Frame_Shift_Del_p.S28fs	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	28						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AGCCCGCTGGGACCCCTCAGTG	0.51																																																0																																										SO:0001589	frameshift_variant	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.82_83delTC	10.37:g.99771036_99771037delGA	ENSP00000359629:p.Ser28fs		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Frame_Shift_Del	DEL	ENST00000370597.3	37	CCDS31266.1																																																																																				0.51	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		-	99771037	GA	-	99771036	7	5	524	1	0	1	0	1	0	0	0	0	3898	1174	41	0	1958	0	CRTAC1	10	99771036	Frame_Shift_Del	DEL	GA	TCGA-CJ-4901-01A-01D-1429-08	51341816	99771036	35763711	30	28006											
OR51B4	79339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5323105	5323105	+	Silent	SNP	C	C	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr11:5323105C>G	ENST00000380224.1	-	1	121	c.72G>C	c.(70-72)cgG>cgC	p.R24R	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	24					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)	p.R24R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATAGAGATCCGGTAGTGAA	0.473											OREG0003718	type=REGULATORY REGION|Gene=OR51B4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - coding silent(1)	kidney(1)											88	91	90					11																	5323105		2201	4297	6498	SO:0001819	synonymous_variant	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.72G>C	11.37:g.5323105C>G		625	A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	CCDS7757.1																																																																																				0.473	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		G	5323105	C	G	5323105	2	3	524	1	0	0	0	0	0	0	0	1	11092	842	30	4		4	OR51B4	11	5323105	Silent	SNP	C	TCGA-CJ-4901-01A-01D-1429-08		5323105	129683411	31	28007											
CTR9	9646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	10785191	10785191	+	Splice_Site	SNP	A	A	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr11:10785191A>G	ENST00000361367.2	+	9	1385	c.959A>G	c.(958-960)gAa>gGa	p.E320G		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	320					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.E320G(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATTCTTTAGGAAGATTATGAC	0.294																																																1	Substitution - Missense(1)	kidney(1)											82	84	84					11																	10785191		2201	4294	6495	SO:0001630	splice_region_variant	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.958-1A>G	11.37:g.10785191A>G			D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	A	2.640	-0.284351	0.05605	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T;T	0.50548	0.74;0.77	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	N	0.01146	-0.985	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28459	-1.0043	10	0.02654	T	1	-29.1638	16.1657	0.81754	1.0:0.0:0.0:0.0	.	320	Q6PD62	CTR9_HUMAN	G	320;271	ENSP00000355013:E320G;ENSP00000431458:E271G	ENSP00000355013:E320G	E	+	2	0	CTR9	10741767	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.400000	0.79949	2.276000	0.75962	0.528000	0.53228	GAA		0.294	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	Missense_Mutation	G	10785191	A	G	10785191	5	3	524	1	0	0	0	0	0	0	1	0	4026	260	9	3	993	3	CTR9	11	10785191	Splice_Site	SNP	A	TCGA-CJ-4901-01A-01D-1429-08	5462086	10785191	124221325	32	28008											
NPAS4	266743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66189623	66189623	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr11:66189623T>A	ENST00000311034.2	+	2	384	c.208T>A	c.(208-210)Tca>Aca	p.S70T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	70	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S70T(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGGCTTCTCTCAGCTCAAGA	0.577											OREG0003368	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NPAS4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																				1	Substitution - Missense(1)	kidney(1)											47	48	48					11																	66189623		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.208T>A	11.37:g.66189623T>A	ENSP00000311196:p.Ser70Thr	1089	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443549	0.83993	.	.	ENSG00000174576	ENST00000311034	T	0.49432	0.78	4.8	4.8	0.61643	PAS (1);	0.000000	0.45361	D	0.000367	T	0.36880	0.0983	L	0.31207	0.915	0.46131	D	0.998881	B	0.32396	0.369	B	0.35039	0.194	T	0.19811	-1.0294	10	0.31617	T	0.26	-7.8014	12.6089	0.56540	0.0:0.0:0.0:1.0	.	70	Q8IUM7	NPAS4_HUMAN	T	70	ENSP00000311196:S70T	ENSP00000311196:S70T	S	+	1	0	NPAS4	65946199	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.016000	0.40971	2.142000	0.66516	0.460000	0.39030	TCA		0.577	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		A	66189623	T	A	66189623	3	1	524	1	0	0	0	0	1	0	0	0	10567	1551	54	5	214	5	NPAS4	11	66189623	Missense_Mutation	SNP	T	TCGA-CJ-4901-01A-01D-1429-08	55404432	66189623	68816893	33	28009											
P2RY2	5029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	72945224	72945224	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr11:72945224C>A	ENST00000311131.2	+	3	487	c.20C>A	c.(19-21)cCc>cAc	p.P7H	P2RY2_ENST00000393597.2_Missense_Mutation_p.P7H|P2RY2_ENST00000393596.2_Missense_Mutation_p.P7H	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	7					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.P7H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GACCTGGGCCCCTGGAATGAC	0.642																																																1	Substitution - Missense(1)	kidney(1)											83	73	77					11																	72945224		2200	4293	6493	SO:0001583	missense	5029			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.20C>A	11.37:g.72945224C>A	ENSP00000310305:p.Pro7His		B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424778	0.43020	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.72725	-0.68;-0.68;-0.68	4.79	-3.65	0.04502	.	1.598120	0.03862	N	0.274156	T	0.50582	0.1624	N	0.22421	0.69	0.19300	N	0.99997	B	0.02656	0.0	B	0.04013	0.001	T	0.19128	-1.0315	10	0.40728	T	0.16	.	1.4888	0.02453	0.1241:0.3706:0.243:0.2624	.	7	P41231	P2RY2_HUMAN	H	7	ENSP00000377222:P7H;ENSP00000310305:P7H;ENSP00000377221:P7H	ENSP00000310305:P7H	P	+	2	0	P2RY2	72622872	0.008000	0.16893	0.011000	0.14972	0.465000	0.32709	-0.080000	0.11339	-0.784000	0.04528	0.467000	0.42956	CCC		0.642	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		A	72945224	C	A	72945224	3	1	524	1	0	0	0	0	1	0	0	0	11354	623	22	4	22	4	P2RY2	11	72945224	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08	6755601	72945224	62061292	34	28010											
ETNK1	55500	hgsc.bcm.edu	37	12	22778110	22778110	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr12:22778110C>A	ENST00000266517.4	+	1	102	c.13C>A	c.(13-15)Cgc>Agc	p.R5S	RP11-268P4.4_ENST00000542076.1_RNA|ETNK1_ENST00000335148.3_Missense_Mutation_p.R5S	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	5					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.R5S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTCTGCGGCCGCCCGCGGTC	0.711																																					Esophageal Squamous(42;87 913 3224 6226 43339)											2	Substitution - Missense(2)	kidney(2)											8	11	10					12																	22778110		2078	4127	6205	SO:0001583	missense	55500			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.13C>A	12.37:g.22778110C>A	ENSP00000266517:p.Arg5Ser		G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136611	0.56936	.	.	ENSG00000139163	ENST00000266517;ENST00000381409;ENST00000335148	T	0.58652	0.32	4.62	0.472	0.16758	.	1.290430	0.06012	N	0.649712	T	0.35335	0.0928	N	0.08118	0	0.21675	N	0.999599	B;B;P	0.35226	0.047;0.006;0.491	B;B;B	0.32724	0.03;0.012;0.151	T	0.30416	-0.9979	10	0.87932	D	0	0.6881	6.0287	0.19669	0.0:0.4894:0.3309:0.1797	.	5;5;5	E9PD44;Q9HBU6;G5E969	.;EKI1_HUMAN;.	S	5	ENSP00000266517:R5S	ENSP00000266517:R5S	R	+	1	0	ETNK1	22669377	0.000000	0.05858	0.990000	0.47175	0.984000	0.73092	-0.471000	0.06631	-0.094000	0.12374	0.558000	0.71614	CGC		0.711	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		A	22778110	C	A	22778110	3	1	524	1	0	0	0	0	1	0	0	0	5275	652	23	4	15	4	ETNK1	12	22778110	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08		22778110	111073785	35	28011											
TSPAN19	144448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	85421761	85421761	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr12:85421761C>G	ENST00000532498.2	-	4	260	c.180G>C	c.(178-180)ttG>ttC	p.L60F	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	60						integral component of membrane (GO:0016021)		p.L60F(1)		ovary(1)	1						CCATTCCAATCAAAATTTGAG	0.299																																																1	Substitution - Missense(1)	kidney(1)											58	54	55					12																	85421761		1808	4063	5871	SO:0001583	missense	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.180G>C	12.37:g.85421761C>G	ENSP00000433816:p.Leu60Phe			Missense_Mutation	SNP	ENST00000532498.2	37	CCDS44949.1	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931316	0.18131	.	.	ENSG00000231738	ENST00000532498;ENST00000547836	T;T	0.81247	-1.47;-1.47	4.4	-2.54	0.06307	.	.	.	.	.	T	0.60209	0.2251	N	0.24115	0.695	0.09310	N	1	B	0.20052	0.041	B	0.23419	0.046	T	0.43686	-0.9376	9	0.23891	T	0.37	.	0.4793	0.00545	0.2691:0.3288:0.14:0.262	.	60	P0C672	TSN19_HUMAN	F	60	ENSP00000433816:L60F;ENSP00000446898:L60F	ENSP00000433816:L60F	L	-	3	2	TSPAN19	83945892	0.063000	0.20901	0.000000	0.03702	0.130000	0.20726	-0.042000	0.12063	-0.668000	0.05296	-0.182000	0.12963	TTG		0.299	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		G	85421761	C	G	85421761	3	3	524	1	0	0	0	0	1	0	0	0	16648	825	29	4	590	4	TSPAN19	12	85421761	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08	62643651	85421761	48430134	36	28012											
ANKS1B	56899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100206021	100206021	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr12:100206021G>C	ENST00000547776.2	-	3	283	c.284C>G	c.(283-285)cCt>cGt	p.P95R	ANKS1B_ENST00000329257.7_Missense_Mutation_p.P95R|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	95						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.P95R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGGTGAATAGGAAAATACCC	0.398																																																1	Substitution - Missense(1)	kidney(1)											92	95	94					12																	100206021		1899	4108	6007	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.284C>G	12.37:g.100206021G>C	ENSP00000449629:p.Pro95Arg		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598588	0.87055	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.75477	0.29;0.29;-0.94	5.69	5.69	0.88448	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93852	0.7146	9	.	.	.	-9.0438	19.8034	0.96518	0.0:0.0:1.0:0.0	.	95;95	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	R	95	ENSP00000449629:P95R;ENSP00000331381:P95R;ENSP00000449894:P95R	.	P	-	2	0	ANKS1B	98730152	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.669000	0.90835	0.655000	0.94253	CCT		0.398	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		C	100206021	G	C	100206021	3	2	524	1	0	0	0	0	1	0	0	0	689	1000	35	4	3846	4	ANKS1B	12	100206021	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	14784260	100206021	33645874	37	28013											
ABCC4	10257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95862961	95862961	+	Silent	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr13:95862961C>A	ENST00000376887.4	-	5	720	c.606G>T	c.(604-606)gtG>gtT	p.V202V	ABCC4_ENST00000431522.1_Silent_p.V202V|ABCC4_ENST00000538287.1_3'UTR|snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000412704.1_Silent_p.V202V|ABCC4_ENST00000536256.1_Silent_p.V127V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	202	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.V202V(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CAAACTTGTTCACATCATTGG	0.453																																																2	Substitution - coding silent(2)	kidney(2)											181	138	152					13																	95862961		2203	4300	6503	SO:0001819	synonymous_variant	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.606G>T	13.37:g.95862961C>A			A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	CCDS9474.1																																																																																				0.453	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		A	95862961	C	A	95862961	2	1	524	1	0	0	0	0	0	0	0	1	55	813	29	4		4	ABCC4	13	95862961	Silent	SNP	C	TCGA-CJ-4901-01A-01D-1429-08		95862961	19306917	38	28014											
OR4K14	122740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	20483200	20483200	+	Silent	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr14:20483200A>T	ENST00000305045.2	-	1	152	c.153T>A	c.(151-153)tcT>tcA	p.S51S		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S51S(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCAGGGATCAGAAATTACAG	0.463																																																1	Substitution - coding silent(1)	kidney(1)											83	76	78					14																	20483200		2203	4300	6503	SO:0001819	synonymous_variant	122740				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.153T>A	14.37:g.20483200A>T			Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	CCDS32027.1																																																																																				0.463	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			T	20483200	A	T	20483200	2	4	524	1	0	0	0	0	0	0	0	1	11071	175	7	5		5	OR4K14	14	20483200	Silent	SNP	A	TCGA-CJ-4901-01A-01D-1429-08		20483200	86866340	39	28015											
ACOT2	10965	hgsc.bcm.edu;ucsc.edu	37	14	74036108	74036108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr14:74036108delA	ENST00000238651.5	+	1	346	c.164delA	c.(163-165)cagfs	p.Q55fs	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	55					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CAGGTTGGTCAGATCATTAGG	0.647																																																0													127	113	118					14																	74036108		2203	4300	6503	SO:0001589	frameshift_variant	10965			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"Acyl CoA thioesterases"	18431	protein-coding gene	gene with protein product	"mitochondrial acyl-CoA thioesterase 1"	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.164delA	14.37:g.74036108delA	ENSP00000238651:p.Gln55fs		Q3I5F8|Q53EK4|Q9NUX4	Frame_Shift_Del	DEL	ENST00000238651.5	37	CCDS9816.1																																																																																				0.647	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		-	74036108	A	-	74036108	7	5	524	1	0	1	0	1	0	0	0	0	152	188	7	0	166	0	ACOT2	14	74036108	Frame_Shift_Del	DEL	A	TCGA-CJ-4901-01A-01D-1429-08	53552908	74036108	33313432	40	28016											
RGS11	8786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	321411	321411	+	Missense_Mutation	SNP	C	C	T	rs377094004		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr16:321411C>T	ENST00000397770.3	-	11	753	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	RGS11_ENST00000359740.5_Missense_Mutation_p.V235I|RGS11_ENST00000316163.5_Missense_Mutation_p.V225I|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	246	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.V246I(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCAAGGCAGACGGAGGACTTC	0.652																																																1	Substitution - Missense(1)	kidney(1)											62	60	60					16																	321411		2203	4300	6503	SO:0001583	missense	8786			AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"Regulators of G-protein signaling"	9993	protein-coding gene	gene with protein product		603895	"regulator of G-protein signalling 11"			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.736G>A	16.37:g.321411C>T	ENSP00000380876:p.Val246Ile		O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	ENST00000397770.3	37	CCDS42088.1	.	.	.	.	.	.	.	.	.	.	C	6.876	0.531093	0.13127	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.22945	1.93;1.93;1.93	5.04	-3.63	0.04529	G-protein gamma domain (4);	0.876863	0.09822	N	0.751330	T	0.10766	0.0263	N	0.11201	0.11	0.38259	D	0.941812	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.04013	0.001;0.001;0.001	T	0.26573	-1.0099	10	0.23302	T	0.38	-3.0E-4	7.0475	0.25055	0.142:0.1561:0.0:0.7018	.	235;246;246	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	I	246;225;235	ENSP00000380876:V246I;ENSP00000319069:V225I;ENSP00000352778:V235I	ENSP00000319069:V225I	V	-	1	0	RGS11	261412	0.016000	0.18221	0.026000	0.17262	0.642000	0.38348	-0.276000	0.08514	-0.495000	0.06659	0.455000	0.32223	GTC		0.652	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			T	321411	C	T	321411	3	4	524	1	0	0	0	0	1	0	0	0	13300	536	19	1	695	1	RGS11	16	321411	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08		321411	90033342	41	28017											
SYT17	51760	hgsc.bcm.edu;ucsc.edu	37	16	19195340	19195340	+	Silent	SNP	G	G	A	rs75241864	byFrequency	TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr16:19195340G>A	ENST00000355377.2	+	5	1220	c.822G>A	c.(820-822)ctG>ctA	p.L274L	SYT17_ENST00000568115.1_Silent_p.L213L|SYT17_ENST00000562711.2_Silent_p.L270L|SYT17_ENST00000562034.1_Silent_p.L213L	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	274	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GGAGGACCCTGCTCCTGACCG	0.562													G|||	32	0.00638978	0.0234	0.0014	5008	,	,		12112	0.0		0.0	False		,,,				2504	0.0															0								G		101,4293	80.4+/-118.8	2,97,2098	137	131	133		822	5.6	1	16	dbSNP_132	133	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SYT17	NM_016524.2		2,99,6396	AA,AG,GG		0.0233,2.2986,0.7927		274/475	19195340	103,12891	2197	4300	6497	SO:0001819	synonymous_variant	51760				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.822G>A	16.37:g.19195340G>A			O43330|Q9NZ18	Silent	SNP	ENST00000355377.2	37	CCDS10575.1																																																																																				0.562	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		A	19195340	G	A	19195340	2	1	524	1	0	0	0	0	0	0	0	1	15478	1306	46	2		2	SYT17	16	19195340	Silent	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	18873929	19195340	71159413	42	28018											
CAMKK1	84254	broad.mit.edu;hgsc.bcm.edu	37	17	3786739	3786739	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr17:3786739C>A	ENST00000348335.2	-	5	646	c.498G>T	c.(496-498)aaG>aaT	p.K166N	CAMKK1_ENST00000381769.2_Missense_Mutation_p.K193N|CAMKK1_ENST00000158166.5_Missense_Mutation_p.K166N|CAMKK1_ENST00000381771.2_Missense_Mutation_p.K166N	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.K166N(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AGCCATACTGCTTCAGTAACT	0.507																																																2	Substitution - Missense(2)	kidney(2)											128	105	113					17																	3786739		2203	4300	6503	SO:0001583	missense	84254			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.498G>T	17.37:g.3786739C>A	ENSP00000323118:p.Lys166Asn		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593398	0.66219	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.58	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	L	0.42632	1.34	0.58432	D	0.999999	D;D	0.67145	0.991;0.996	D;D	0.70016	0.944;0.967	T	0.74429	-0.3668	10	0.87932	D	0	-33.8294	10.5113	0.44864	0.0:0.9052:0.0:0.0948	.	166;166	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	N	193;166;166;166	ENSP00000371188:K193N;ENSP00000323118:K166N;ENSP00000371190:K166N;ENSP00000158166:K166N	ENSP00000158166:K166N	K	-	3	2	CAMKK1	3733488	0.975000	0.34042	1.000000	0.80357	0.994000	0.84299	0.215000	0.17562	1.150000	0.42419	0.650000	0.86243	AAG		0.507	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		A	3786739	C	A	3786739	3	1	524	1	0	0	0	0	1	0	0	0	2608	796	28	4	1189	4	CAMKK1	17	3786739	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08		3786739	77408471	43	28019											
ZNF594	84622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5086795	5086795	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr17:5086795C>G	ENST00000399604.4	-	1	897	c.757G>C	c.(757-759)Gat>Cat	p.D253H	ZNF594_ENST00000575779.1_Missense_Mutation_p.D253H			Q96JF6	ZN594_HUMAN	zinc finger protein 594	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D253H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATAATAAGATCTGTGCTTTGA	0.418																																																1	Substitution - Missense(1)	kidney(1)											112	117	115					17																	5086795		2172	4287	6459	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.757G>C	17.37:g.5086795C>G	ENSP00000382513:p.Asp253His		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	7.991	0.753384	0.15778	.	.	ENSG00000180626	ENST00000399604	T	0.37411	1.2	2.4	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12220	0.0297	N	0.02830	-0.485	0.09310	N	0.999999	B	0.29085	0.232	B	0.20955	0.032	T	0.29181	-1.0020	9	0.12103	T	0.63	.	6.754	0.23503	0.0:0.7032:0.2968:0.0	.	253	Q96JF6	ZN594_HUMAN	H	253	ENSP00000382513:D253H	ENSP00000382513:D253H	D	-	1	0	ZNF594	5027519	0.000000	0.05858	0.994000	0.49952	0.896000	0.52359	-1.933000	0.01553	0.324000	0.23333	0.449000	0.29647	GAT		0.418	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		G	5086795	C	G	5086795	3	3	524	1	0	0	0	0	1	0	0	0	18029	913	32	4	1670	4	ZNF594	17	5086795	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08	1300056	5086795	76108415	44	28020											
SPATA20	64847	broad.mit.edu;hgsc.bcm.edu	37	17	48629019	48629019	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr17:48629019C>T	ENST00000356488.4	+	12	1759	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	SPATA20_ENST00000006658.6_Missense_Mutation_p.P575L|SPATA20_ENST00000393244.3_Missense_Mutation_p.P515L|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	559					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)	p.P575L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TACACCGGCCCTGGGGGGACT	0.637																																																1	Substitution - Missense(1)	kidney(1)											30	31	31					17																	48629019		2202	4298	6500	SO:0001583	missense	64847				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1676C>T	17.37:g.48629019C>T	ENSP00000348878:p.Pro559Leu		Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295398	0.23564	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.28666	1.6;1.6;1.6	5.39	0.635	0.17723	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.954960	0.08725	N	0.902864	T	0.21718	0.0523	L	0.42581	1.335	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.06405	0.001;0.002	T	0.29119	-1.0022	10	0.37606	T	0.19	-19.7495	2.4	0.04399	0.4452:0.3032:0.1042:0.1475	.	559;575	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	L	575;559;515	ENSP00000006658:P575L;ENSP00000348878:P559L;ENSP00000376935:P515L	ENSP00000006658:P575L	P	+	2	0	SPATA20	45984018	0.000000	0.05858	0.003000	0.11579	0.553000	0.35397	0.381000	0.20619	0.610000	0.30035	0.561000	0.74099	CCT		0.637	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		T	48629019	C	T	48629019	3	4	524	1	0	0	0	0	1	0	0	0	15011	681	24	2	1774	2	SPATA20	17	48629019	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08	43542224	48629019	32566191	45	28021											
ANKFN1	162282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	54403670	54403670	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr17:54403670C>A	ENST00000318698.2	+	3	186	c.151C>A	c.(151-153)Caa>Aaa	p.Q51K	ANKFN1_ENST00000566473.2_Missense_Mutation_p.Q51K	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	51								p.Q51K(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGCACTGGACAATTACCAAC	0.398																																																1	Substitution - Missense(1)	kidney(1)											152	138	142					17																	54403670		2203	4300	6503	SO:0001583	missense	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.151C>A	17.37:g.54403670C>A	ENSP00000321627:p.Gln51Lys			Missense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833829	0.50951	.	.	ENSG00000153930	ENST00000318698	T	0.21734	1.99	6.07	5.11	0.69529	.	0.314127	0.28425	N	0.015396	T	0.17195	0.0413	L	0.36672	1.1	0.27259	N	0.958688	B	0.11235	0.004	B	0.09377	0.004	T	0.05566	-1.0877	10	0.33141	T	0.24	-3.1616	12.1733	0.54172	0.0:0.9225:0.0:0.0775	.	51	Q8N957	ANKF1_HUMAN	K	51	ENSP00000321627:Q51K	ENSP00000321627:Q51K	Q	+	1	0	ANKFN1	51758669	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.218000	0.42889	2.885000	0.99019	0.655000	0.94253	CAA		0.398	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		A	54403670	C	A	54403670	3	1	524	1	0	0	0	0	1	0	0	0	625	479	17	4	161	4	ANKFN1	17	54403670	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08	5774651	54403670	26791540	46	28022											
EPB41L3	23136	broad.mit.edu;hgsc.bcm.edu	37	18	5410602	5410602	+	Missense_Mutation	SNP	G	G	A	rs373780287		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr18:5410602G>A	ENST00000341928.2	-	14	2424	c.2084C>T	c.(2083-2085)aCg>aTg	p.T695M	EPB41L3_ENST00000427684.2_De_novo_Start_InFrame|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T526M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T695M|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T526M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T526M|EPB41L3_ENST00000542146.1_De_novo_Start_InFrame	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	695	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T695M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCGGTGTCCGTGCGCTCACT	0.557																																																1	Substitution - Missense(1)	kidney(1)						G	MET/THR	0,4406		0,0,2203	103	67	79		2084	5.2	0.9	18		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPB41L3	NM_012307.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	695/1088	5410602	1,13005	2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2084C>T	18.37:g.5410602G>A	ENSP00000343158:p.Thr695Met		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429240	0.83776	0.0	1.16E-4	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.84660	-1.71;-1.88;-1.71;-1.84	5.24	5.24	0.73138	.	0.058714	0.64402	D	0.000002	D	0.87625	0.6224	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.996;0.996;0.998;0.998	D	0.89460	0.3736	10	0.62326	D	0.03	.	18.8177	0.92084	0.0:0.0:1.0:0.0	.	526;87;417;526;695	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	M	695;417;526;417;695;526	ENSP00000343158:T695M;ENSP00000441174:T526M;ENSP00000341138:T695M;ENSP00000382981:T526M	ENSP00000343158:T695M	T	-	2	0	EPB41L3	5400602	1.000000	0.71417	0.939000	0.37840	0.949000	0.60115	9.138000	0.94501	2.453000	0.82957	0.591000	0.81541	ACG		0.557	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		A	5410602	G	A	5410602	3	1	524	1	0	0	0	0	1	0	0	0	5156	1145	40	1	1215	1	EPB41L3	18	5410602	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08		5410602	72666646	47	28023											
IMPA2	3613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	11999109	11999109	+	Silent	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr18:11999109A>T	ENST00000269159.3	+	2	395	c.153A>T	c.(151-153)gcA>gcT	p.A51A	IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	51					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.A51A(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	CATCAGCTGCAGATCTTGTGA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											138	138	138					18																	11999109		2203	4300	6503	SO:0001819	synonymous_variant	3613			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.153A>T	18.37:g.11999109A>T			B0YJ29|Q9UJT3	Silent	SNP	ENST00000269159.3	37	CCDS11855.1																																																																																				0.408	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			T	11999109	A	T	11999109	2	4	524	1	0	0	0	0	0	0	0	1	7725	175	7	5		5	IMPA2	18	11999109	Silent	SNP	A	TCGA-CJ-4901-01A-01D-1429-08	6588507	11999109	66078139	48	28024											
CTAGE1	64693	broad.mit.edu;hgsc.bcm.edu	37	18	19996969	19996969	+	5'Flank	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr18:19996969G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.S269L			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.S269L(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ACCATCTTCCGATTCACTGTT	0.378																																																2	Substitution - Missense(2)	kidney(2)											99	100	100					18																	19996969		2203	4299	6502	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996969G>A	Exception_encountered		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37		.	.	.	.	.	.	.	.	.	.	G	0.116	-1.131698	0.01756	.	.	ENSG00000212710	ENST00000391403	T	0.39787	1.06	0.741	0.741	0.18336	.	.	.	.	.	T	0.20129	0.0484	N	0.12471	0.22	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.22347	-1.0219	8	.	.	.	.	4.8168	0.13371	0.0:0.0:1.0:0.0	.	269	Q96RT6	CTGE2_HUMAN	L	269	ENSP00000375220:S269L	.	S	-	2	0	CTAGE1	18250967	1.000000	0.71417	0.108000	0.21378	0.100000	0.18952	0.480000	0.22244	0.670000	0.31165	0.449000	0.29647	TCG		0.378	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		A	19996969	G	A	19996969	1	1	524	0	1	0	0	0	0	0	0	0	3994	1059	37	1		1	CTAGE1	18	19996969	5'Flank	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	7997860	19996969	58080279	49	28025											
FARSA	2193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	13041068	13041068	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr19:13041068C>G	ENST00000314606.4	-	4	490	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	FARSA_ENST00000588025.1_Missense_Mutation_p.E198Q|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Missense_Mutation_p.E158Q	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	158					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E158Q(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TTCCTCAGCTCGCTCCTCTCC	0.652																																																1	Substitution - Missense(1)	kidney(1)											170	138	149					19																	13041068		2203	4300	6503	SO:0001583	missense	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.472G>C	19.37:g.13041068C>G	ENSP00000320309:p.Glu158Gln		B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921962	0.73213	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.65549	-0.16;0.41	5.66	5.66	0.87406	.	0.053324	0.64402	D	0.000001	T	0.69602	0.3129	M	0.83603	2.65	0.80722	D	1	P;B;B	0.52061	0.95;0.149;0.149	B;B;B	0.43536	0.423;0.019;0.019	T	0.75175	-0.3410	10	0.51188	T	0.08	-37.933	18.5168	0.90938	0.0:1.0:0.0:0.0	.	158;158;158	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	Q	158	ENSP00000320309:E158Q;ENSP00000396548:E158Q	ENSP00000320309:E158Q	E	-	1	0	FARSA	12902068	1.000000	0.71417	0.756000	0.31282	0.979000	0.70002	6.714000	0.74692	2.679000	0.91253	0.563000	0.77884	GAG		0.652	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		G	13041068	C	G	13041068	3	3	524	1	0	0	0	0	1	0	0	0	5681	893	31	4	1094	4	FARSA	19	13041068	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08		13041068	46087915	50	28026											
ZNF99	7652	hgsc.bcm.edu	37	19	22939560	22939560	+	IGR	SNP	T	T	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr19:22939560T>G	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.N871H|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTGAGGAATTGTTAAAAGCT	0.358																																																0													37	50	46					19																	22939560		1946	4219	6165	SO:0001628	intergenic_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939560T>G			M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.004	-2.261364	0.00262	.	.	ENSG00000213973	ENST00000397104	T	0.19250	2.16	1.32	-2.64	0.06114	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.31138	-0.9954	8	0.15952	T	0.53	.	0.921	0.01315	0.4438:0.159:0.2382:0.159	.	871	A8MXY4	ZNF99_HUMAN	H	871	ENSP00000380293:N871H	ENSP00000380293:N871H	N	-	1	0	ZNF99	22731400	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.413000	0.00021	-2.655000	0.00422	-1.656000	0.00753	AAT		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		G	22939560	T	G	22939560	1	3	524	0	1	0	0	0	0	0	0	0	18209	1812	63	5		5	ZNF99	19	22939560	IGR	SNP	T	TCGA-CJ-4901-01A-01D-1429-08	9898492	22939560	36189423	51	28027											
PRR12	57479	broad.mit.edu;hgsc.bcm.edu	37	19	50099582	50099582	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr19:50099582G>A	ENST00000418929.2	+	4	2002	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)	p.E664K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTTGGTGGGCGAGGACGGGGC	0.682																																																1	Substitution - Missense(1)	kidney(1)											13	16	15					19																	50099582		1885	4046	5931	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1990G>A	19.37:g.50099582G>A	ENSP00000394510:p.Glu664Lys		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393200	0.25118	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.51	3.51	0.40186	.	.	.	.	.	T	0.25082	0.0609	.	.	.	0.28097	N	0.931553	P	0.42692	0.787	B	0.34418	0.182	T	0.13791	-1.0496	7	0.59425	D	0.04	.	8.9753	0.35932	0.1128:0.0:0.8872:0.0	.	664	Q9ULL5-3	.	K	664	.	ENSP00000394510:E664K	E	+	1	0	PRR12	54791394	0.982000	0.34865	0.997000	0.53966	0.808000	0.45660	0.780000	0.26760	1.992000	0.58205	0.297000	0.19635	GAG		0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		A	50099582	G	A	50099582	3	1	524	1	0	0	0	0	1	0	0	0	12589	1059	37	1	2004	1	PRR12	19	50099582	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	27160022	50099582	9029401	52	28028											
NF2	4771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30067836	30067836	+	Nonsense_Mutation	SNP	C	C	T	rs74315499		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr22:30067836C>T	ENST00000338641.4	+	11	1462	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	NF2_ENST00000361166.4_Nonsense_Mutation_p.R341*|NF2_ENST00000353887.4_Nonsense_Mutation_p.R258*|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Nonsense_Mutation_p.R341*|NF2_ENST00000397789.3_Nonsense_Mutation_p.R341*|NF2_ENST00000361676.4_Nonsense_Mutation_p.R299*|NF2_ENST00000334961.7_Nonsense_Mutation_p.R258*|NF2_ENST00000403435.1_Intron|NF2_ENST00000361452.4_Nonsense_Mutation_p.R300*|NF2_ENST00000413209.2_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	341	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.R341*(22)|p.?(3)|p.M334fs*4(1)|p.M334_Q362del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GCGCCTCGCTCGAGAGAAGCA	0.567			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	27	Substitution - Nonsense(22)|Unknown(3)|Deletion - In frame(1)|Deletion - Frameshift(1)	meninges(12)|soft_tissue(6)|large_intestine(2)|pleura(2)|kidney(2)|central_nervous_system(1)|skin(1)|stomach(1)	GRCh37	CM930516	NF2	M	rs74315499						83	75	78					22																	30067836		2203	4300	6503	SO:0001587	stop_gained	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1021C>T	22.37:g.30067836C>T	ENSP00000344666:p.Arg341*		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258801	0.95368	.	.	ENSG00000186575	ENST00000338641;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.66	3.38	0.38709	.	0.055487	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8185	0.70052	0.2339:0.7661:0.0:0.0	.	.	.	.	X	341;300;341;341;258;258;341;299;341	.	.	R	+	1	2	NF2	28397836	0.749000	0.28305	0.842000	0.33263	0.994000	0.84299	1.510000	0.35790	2.681000	0.91329	0.462000	0.41574	CGA		0.567	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		T	30067836	C	T	30067836	4	4	524	1	0	0	0	0	0	1	0	0	10359	876	31	1	1063	1	NF2	22	30067836	Nonsense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08		30067836	21236730	53	28029											
TRIOBP	11078	broad.mit.edu;hgsc.bcm.edu	37	22	38097437	38097437	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr22:38097437G>T	ENST00000406386.3	+	3	320	c.65G>T	c.(64-66)cGc>cTc	p.R22L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	22					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.R22L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCCAGAACCGCTGTCAAAAC	0.567																																																1	Substitution - Missense(1)	kidney(1)											100	100	100					22																	38097437		1992	4163	6155	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.65G>T	22.37:g.38097437G>T	ENSP00000384312:p.Arg22Leu		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582227	0.28180	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19806	2.12	5.56	0.439	0.16567	.	.	.	.	.	T	0.09686	0.0238	N	0.14661	0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.36383	-0.9750	9	0.21540	T	0.41	.	4.1226	0.10112	0.2729:0.0:0.4225:0.3046	.	22	Q9H2D6	TARA_HUMAN	L	22	ENSP00000384312:R22L	ENSP00000340312:R22L	R	+	2	0	TRIOBP	36427383	0.002000	0.14202	0.004000	0.12327	0.547000	0.35210	0.276000	0.18716	0.248000	0.21435	0.650000	0.86243	CGC		0.567	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			T	38097437	G	T	38097437	3	4	524	1	0	0	0	0	1	0	0	0	16558	1087	38	4	67	4	TRIOBP	22	38097437	Missense_Mutation	SNP	G	TCGA-CJ-4901-01A-01D-1429-08	8029601	38097437	13207129	54	28030											
GEMIN8	54960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	14038611	14038611	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chrX:14038611C>A	ENST00000380523.4	-	4	376	c.58G>T	c.(58-60)Gta>Tta	p.V20L	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.V20L	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	20					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.V20L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTTGCATATACCGGATGAGAA	0.448																																																1	Substitution - Missense(1)	kidney(1)											99	90	93					X																	14038611		2203	4300	6503	SO:0001583	missense	54960			BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"family with sequence similarity 51, member A1"	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.58G>T	X.37:g.14038611C>A	ENSP00000369895:p.Val20Leu		C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	c	9.818	1.185031	0.21870	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.45668	0.89;0.89;0.89	5.11	4.25	0.50352	.	0.376662	0.26383	N	0.024684	T	0.41026	0.1141	M	0.71581	2.175	0.09310	N	0.999998	P	0.40431	0.717	B	0.37198	0.243	T	0.41360	-0.9513	10	0.66056	D	0.02	.	10.1541	0.42812	0.0:0.8286:0.0:0.1714	.	20	Q9NWZ8	GEMI8_HUMAN	L	20	ENSP00000369895:V20L;ENSP00000381398:V20L;ENSP00000369894:V20L	ENSP00000369894:V20L	V	-	1	0	GEMIN8	13948532	0.005000	0.15991	0.003000	0.11579	0.091000	0.18340	1.904000	0.39868	0.953000	0.37825	0.594000	0.82650	GTA		0.448	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		A	14038611	C	A	14038611	3	1	524	1	0	0	0	0	1	0	0	0	6336	507	18	4	678	4	GEMIN8	23	14038611	Missense_Mutation	SNP	C	TCGA-CJ-4901-01A-01D-1429-08		14038611	141231949	55	28031											
AGRN	375790	hgsc.bcm.edu;ucsc.edu	37	1	979247	979251	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	GCAGG	GCAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr1:979247_979251delGCAGG	ENST00000379370.2	+	10	1893_1897	c.1843_1847delGCAGG	c.(1843-1848)gcagggfs	p.AG615fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	615	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGTGTGCTCCGCAGGGCAGTGTGTG	0.693																																																0																																										SO:0001589	frameshift_variant	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1843_1847delGCAGG	1.37:g.979247_979251delGCAGG	ENSP00000368678:p.Ala615fs		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Del	DEL	ENST00000379370.2	37	CCDS30551.1																																																																																				0.693	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		-	979251	GCAGG	-	979247	7	5	525	1	0	1	0	1	0	0	0	0	397	1087	38	0	1881	0	AGRN	1	979247	Frame_Shift_Del	DEL	GCAGG	TCGA-CJ-4902-01A-01D-1429-08		979247	248271374	1	28032											
RPS6KA1	6195	broad.mit.edu;hgsc.bcm.edu	37	1	26887302	26887302	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr1:26887302G>A	ENST00000374168.2	+	15	1455	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R418H|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R342H|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R342H|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R443H|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R423H	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	434	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R443H(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GAGTGCAAGCGCTGTGTCCAC	0.572																																																1	Substitution - Missense(1)	kidney(1)											123	115	118					1																	26887302		2203	4300	6503	SO:0001583	missense	6195			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1301G>A	1.37:g.26887302G>A	ENSP00000363283:p.Arg434His		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	35	5.454774	0.96223	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	L	0.37897	1.145	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.77004	0.91;0.904;0.989	T	0.60005	-0.7347	10	0.87932	D	0	.	19.2983	0.94132	0.0:0.0:1.0:0.0	.	418;443;434	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	H	434;423;342;342;418;443	ENSP00000363283:R434H;ENSP00000363281:R423H;ENSP00000431651:R342H;ENSP00000363277:R342H;ENSP00000432281:R418H;ENSP00000435412:R443H	ENSP00000363277:R342H	R	+	2	0	RPS6KA1	26759889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.921000	0.87530	2.567000	0.86603	0.462000	0.41574	CGC		0.572	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		A	26887302	G	A	26887302	3	1	525	1	0	0	0	0	1	0	0	0	13656	1087	38	1	1498	1	RPS6KA1	1	26887302	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	25908055	26887302	222363319	2	28033											
LRRC7	57554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70504369	70504369	+	Silent	SNP	G	G	A	rs370666609		TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr1:70504369G>A	ENST00000035383.5	+	19	2778	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	LRRC7_ENST00000415775.2_Silent_p.P200P|LRRC7_ENST00000310961.5_Silent_p.P921P	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	916						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.P916P(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACTGCCGCCCGGAATCTTCTA	0.398																																																1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	52	53	53		2748	-2.4	0.9	1		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRRC7	NM_020794.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		916/1538	70504369	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2748G>A	1.37:g.70504369G>A			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																				0.398	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		A	70504369	G	A	70504369	2	1	525	1	0	0	0	0	0	0	0	1	9022	1103	39	1		1	LRRC7	1	70504369	Silent	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	43617067	70504369	178746252	3	28034											
GJA8	2703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	147380712	147380712	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr1:147380712G>T	ENST00000369235.1	+	1	630	c.630G>T	c.(628-630)ttG>ttT	p.L210F	GJA8_ENST00000240986.4_Missense_Mutation_p.L210F			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	210					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.L210F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGTTCATGTTGTCTGTGGCCT	0.607																																					Melanoma(76;1255 1795 8195 52096)											1	Substitution - Missense(1)	kidney(1)											129	108	115					1																	147380712		2203	4300	6503	SO:0001583	missense	2703			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.630G>T	1.37:g.147380712G>T	ENSP00000358238:p.Leu210Phe		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	14.33	2.503817	0.44558	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.95724	-3.79;-3.79	4.92	0.0492	0.14288	Gap junction protein, cysteine-rich domain (1);	0.000000	0.64402	D	0.000003	D	0.93812	0.8021	L	0.52266	1.64	0.49687	D	0.999812	D	0.89917	1.0	D	0.97110	1.0	D	0.91422	0.5159	10	0.72032	D	0.01	.	4.7906	0.13247	0.1408:0.3354:0.4206:0.1032	.	210	P48165	CXA8_HUMAN	F	210	ENSP00000240986:L210F;ENSP00000358238:L210F	ENSP00000240986:L210F	L	+	3	2	GJA8	145847336	1.000000	0.71417	0.762000	0.31397	0.755000	0.42902	1.118000	0.31246	0.086000	0.17137	0.313000	0.20887	TTG		0.607	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		T	147380712	G	T	147380712	3	4	525	1	0	0	0	0	1	0	0	0	6407	1368	48	4	632	4	GJA8	1	147380712	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	76876343	147380712	101869909	4	28035											
ATP1A4	480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160144415	160144415	+	Missense_Mutation	SNP	C	C	T	rs377309643		TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr1:160144415C>T	ENST00000368081.4	+	15	2660	c.2189C>T	c.(2188-2190)gCg>gTg	p.A730V	ATP1A4_ENST00000470705.1_5'Flank|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	730					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.A730V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACTCCCCTGCGCTGAAGAAG	0.547																																																1	Substitution - Missense(1)	kidney(1)						C	VAL/ALA	0,4406		0,0,2203	138	104	116		2189	4.3	0.1	1		116	2,8598	2.2+/-6.3	0,2,4298	no	missense	ATP1A4	NM_144699.3	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	730/1030	160144415	2,13004	2203	4300	6503	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2189C>T	1.37:g.160144415C>T	ENSP00000357060:p.Ala730Val		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630147	0.87660	0.0	2.33E-4	ENSG00000132681	ENST00000368081	D	0.98090	-4.71	4.27	4.27	0.50696	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98440	1.0586	10	0.87932	D	0	.	14.5908	0.68362	0.0:1.0:0.0:0.0	.	730	Q13733	AT1A4_HUMAN	V	730	ENSP00000357060:A730V	ENSP00000357060:A730V	A	+	2	0	ATP1A4	158411039	1.000000	0.71417	0.125000	0.21846	0.787000	0.44495	7.623000	0.83113	2.371000	0.80710	0.655000	0.94253	GCG		0.547	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		T	160144415	C	T	160144415	3	4	525	1	0	0	0	0	1	0	0	0	1131	768	27	1	2247	1	ATP1A4	1	160144415	Missense_Mutation	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	12763703	160144415	89106206	5	28036											
DHX9	1660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	182841497	182841497	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr1:182841497G>A	ENST00000367549.3	+	15	1693	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	528	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.R528H(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTAGTACTGCGTGATGTTGTT	0.323																																					Colon(69;210 1162 3697 13559 39565)											1	Substitution - Missense(1)	kidney(1)											200	173	181					1																	182841497		1861	4089	5950	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1583G>A	1.37:g.182841497G>A	ENSP00000356520:p.Arg528His		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334717	0.95758	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.09255	3.0	5.97	5.97	0.96955	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.27157	-1.0082	10	0.72032	D	0.01	.	20.0239	0.97514	0.0:0.0:1.0:0.0	.	528	Q08211	DHX9_HUMAN	H	528	ENSP00000356520:R528H	ENSP00000356520:R528H	R	+	2	0	DHX9	181108120	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.901000	0.92560	2.835000	0.97688	0.591000	0.81541	CGT		0.323	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		A	182841497	G	A	182841497	3	1	525	1	0	0	0	0	1	0	0	0	4518	1145	40	1	1637	1	DHX9	1	182841497	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	22697082	182841497	66409124	6	28037											
FAM5C	339479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	190068181	190068181	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr1:190068181G>A	ENST00000367462.3	-	8	1499	c.1268C>T	c.(1267-1269)aCg>aTg	p.T423M	BRINP3_ENST00000534846.1_Missense_Mutation_p.T321M	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	423					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.T423M(1)									GCACGAGTGCGTCTCTTCTGA	0.547																																																1	Substitution - Missense(1)	kidney(1)											50	40	43					1																	190068181		2203	4300	6503	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1268C>T	1.37:g.190068181G>A	ENSP00000356432:p.Thr423Met		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027250	0.54683	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.42900	0.96;0.96	5.65	5.65	0.86999	.	0.114994	0.64402	D	0.000011	T	0.38692	0.1050	L	0.34521	1.04	0.40578	D	0.981363	D;P	0.53619	0.961;0.935	B;B	0.43701	0.428;0.187	T	0.34976	-0.9807	10	0.62326	D	0.03	.	17.2216	0.86959	0.0:0.0:1.0:0.0	.	321;423	B7Z260;Q76B58	.;FAM5C_HUMAN	M	423;321	ENSP00000356432:T423M;ENSP00000438022:T321M	ENSP00000356432:T423M	T	-	2	0	FAM5C	188334804	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.178000	0.50879	2.656000	0.90262	0.591000	0.81541	ACG		0.547	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		A	190068181	G	A	190068181	3	1	525	1	0	0	0	0	1	0	0	0	5596	1145	40	1	1036	1	FAM5C	1	190068181	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	7226684	190068181	59182440	7	28038											
APOB	338	hgsc.bcm.edu;ucsc.edu	37	2	21229016	21229016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr2:21229016delC	ENST00000233242.1	-	26	10851	c.10724delG	c.(10723-10725)ggcfs	p.G3575fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3575					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAAAGAGGCCCTCTAGCTG	0.473																																																0													77	73	75					2																	21229016		2203	4300	6503	SO:0001589	frameshift_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10724delG	2.37:g.21229016delC	ENSP00000233242:p.Gly3575fs		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	CCDS1703.1																																																																																				0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			-	21229016	C	-	21229016	7	5	525	1	0	1	0	1	0	0	0	0	785	739	26	0	2983	0	APOB	2	21229016	Frame_Shift_Del	DEL	C	TCGA-CJ-4902-01A-01D-1429-08		21229016	221970357	8	28039											
TP53I3	9540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	24307098	24307100	+	Missense_Mutation	TNP	CTT	CTT	ACA			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C|T|T	C|T|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr2:24307098_24307100CTT>ACA	ENST00000238721.4	-	1	951_953	c.97_99AAG>TGT	c.(97-99)AAG>TGT	p.K33C	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000313482.4_Missense_Mutation_p.K33C|TP53I3_ENST00000407482.1_Missense_Mutation_p.K33C|TP53I3_ENST00000335934.4_Missense_Mutation_p.K33C	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	33					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.K33N(1)|p.K33R(1)|p.K33*(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCCGCCACCTTCAGGAGGACT	0.655											OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				3	Substitution - Missense(2)|Substitution - Nonsense(1)	kidney(3)																																								SO:0001583	missense	9540			AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.97_99AAG>TGT	2.37:g.24307098CTT>ACA	ENSP00000238721:p.Lys33Cys	770	D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation|Missense_Mutation|Nonsense_Mutation	SNP	ENST00000238721.4	37	CCDS1708.1																																																																																				0.655	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		ACA	24307100	CTT	ACA	24307098	3	1	525	1	0	0	0	0	1	0	0	0	16392	680	24	4	919	4	TP53I3	2	24307098	Missense_Mutation	TNP	CTT	TCGA-CJ-4902-01A-01D-1429-08	3078082	24307098	218892275	9	28040											
KHK	3795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27322321	27322321	+	Silent	SNP	C	C	T	rs142428157	byFrequency	TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr2:27322321C>T	ENST00000260599.6	+	7	1200	c.687C>T	c.(685-687)ggC>ggT	p.G229G	KHK_ENST00000260598.5_Silent_p.G229G|CGREF1_ENST00000402550.1_3'UTR|KHK_ENST00000490823.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	229					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)	p.G229G(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAGGAGGGCGCCGACGCCC	0.652																																																4	Substitution - coding silent(4)	large_intestine(2)|kidney(2)						T	,,,	1,4405	2.1+/-5.4	0,1,2202	63	66	65		687,,,687	-10.6	0.2	2	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,utr-3,utr-3,coding-synonymous	KHK,CGREF1	NM_000221.2,NM_001166240.1,NM_001166241.1,NM_006488.2	,,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,,	229/299,,,229/299	27322321	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3795				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.687C>T	2.37:g.27322321C>T			Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Silent	SNP	ENST00000260599.6	37	CCDS1734.1																																																																																				0.652	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			T	27322321	C	T	27322321	2	4	525	1	0	0	0	0	0	0	0	1	8151	755	27	1		1	KHK	2	27322321	Silent	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	3015223	27322321	215877052	10	28041											
VPS54	51542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	64161068	64161068	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr2:64161068G>A	ENST00000272322.4	-	12	1632	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L	VPS54_ENST00000354504.3_Missense_Mutation_p.S340L|VPS54_ENST00000409558.4_Missense_Mutation_p.S481L			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	493					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.S493L(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CTTCTGTTGTGAAATCTCTTC	0.383																																																1	Substitution - Missense(1)	kidney(1)											150	122	132					2																	64161068		2203	4300	6503	SO:0001583	missense	51542			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1478C>T	2.37:g.64161068G>A	ENSP00000272322:p.Ser493Leu		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578695	0.46006	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.33438	1.47;1.41;1.41	5.31	4.44	0.53790	.	0.852012	0.10676	N	0.646974	T	0.22244	0.0536	N	0.22421	0.69	0.29416	N	0.860904	B;B;B	0.22211	0.0;0.039;0.066	B;B;B	0.21708	0.001;0.016;0.036	T	0.16867	-1.0388	10	0.25106	T	0.35	.	11.1232	0.48302	0.1617:0.0:0.8383:0.0	.	340;493;481	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	L	340;493;481;481;493	ENSP00000346499:S340L;ENSP00000272322:S493L;ENSP00000386980:S481L	ENSP00000272322:S493L	S	-	2	0	VPS54	64014572	1.000000	0.71417	0.995000	0.50966	0.946000	0.59487	3.783000	0.55409	1.375000	0.46248	0.563000	0.77884	TCA		0.383	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		A	64161068	G	A	64161068	3	1	525	1	0	0	0	0	1	0	0	0	17221	1294	45	2	1503	2	VPS54	2	64161068	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	36838747	64161068	179038305	11	28042											
MEIS1	4211	broad.mit.edu	37	2	66667009	66667009	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr2:66667009G>T	ENST00000272369.9	+	3	731	c.274G>T	c.(274-276)Gag>Tag	p.E92*	MEIS1_ENST00000488550.1_Nonsense_Mutation_p.E92*|MEIS1_ENST00000398506.2_Nonsense_Mutation_p.E90*|MEIS1_ENST00000495021.2_Nonsense_Mutation_p.E27*|MEIS1_ENST00000444274.2_Nonsense_Mutation_p.E60*|MEIS1_ENST00000560281.2_Nonsense_Mutation_p.E92*|MEIS1_ENST00000407092.2_Nonsense_Mutation_p.E92*|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1-AS1_ENST00000454595.1_RNA	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	92					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.E92*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACTGATTTTTGAGAAATGTGA	0.502																																																1	Substitution - Nonsense(1)	kidney(1)											95	85	88					2																	66667009		1825	4077	5902	SO:0001587	stop_gained	4211				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"Homeoboxes / TALE class"	7000	protein-coding gene	gene with protein product		601739	"Meis1 (mouse) homolog", "Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.274G>T	2.37:g.66667009G>T	ENSP00000272369:p.Glu92*		A8MV50	Nonsense_Mutation	SNP	ENST00000272369.9	37	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	G	43	10.338579	0.99387	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021	.	.	.	5.38	5.38	0.77491	.	0.052845	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9412	0.92605	0.0:0.0:1.0:0.0	.	.	.	.	X	92;92;90;60;27	.	ENSP00000272369:E92X	E	+	1	0	MEIS1	66520513	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.620000	0.98373	2.793000	0.96121	0.655000	0.94253	GAG		0.502	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		T	66667009	G	T	66667009	4	4	525	1	0	0	0	0	0	1	0	0	9469	1291	45	4	284	4	MEIS1	2	66667009	Nonsense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	2505941	66667009	176532364	12	28043											
FOXD4L1	200350	broad.mit.edu	37	2	114257620	114257620	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr2:114257620C>T	ENST00000306507.5	+	1	960	c.787C>T	c.(787-789)Cac>Tac	p.H263Y		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	263	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H263Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CGCTCTGCTGCACCCGCATCC	0.736																																																1	Substitution - Missense(1)	kidney(1)											16	21	19					2																	114257620		1641	3196	4837	SO:0001583	missense	200350			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.787C>T	2.37:g.114257620C>T	ENSP00000302756:p.His263Tyr		B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	9.436	1.086867	0.20390	.	.	ENSG00000184492	ENST00000306507	D	0.94897	-3.55	2.57	2.57	0.30868	.	0.219300	0.22365	U	0.061035	D	0.86577	0.5966	L	0.34521	1.04	0.24373	N	0.99482	B	0.14438	0.01	B	0.09377	0.004	T	0.69833	-0.5038	10	0.02654	T	1	.	7.4563	0.27268	0.0:0.7284:0.2716:0.0	.	263	Q9NU39	FX4L1_HUMAN	Y	263	ENSP00000302756:H263Y	ENSP00000302756:H263Y	H	+	1	0	FOXD4L1	113974090	0.001000	0.12720	0.998000	0.56505	0.080000	0.17528	0.828000	0.27435	1.452000	0.47756	0.184000	0.17185	CAC		0.736	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		T	114257620	C	T	114257620	3	4	525	1	0	0	0	0	1	0	0	0	6002	710	25	2	789	2	FOXD4L1	2	114257620	Missense_Mutation	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	47590611	114257620	128941753	13	28044											
KCNJ3	3760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	155555522	155555522	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr2:155555522A>C	ENST00000295101.2	+	1	712	c.235A>C	c.(235-237)Aag>Cag	p.K79Q	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Missense_Mutation_p.K79Q	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	79					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.K79Q(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GGTGGACCTCAAGTGGCGCTG	0.597																																																1	Substitution - Missense(1)	kidney(1)											141	133	136					2																	155555522		2203	4300	6503	SO:0001583	missense	3760			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.235A>C	2.37:g.155555522A>C	ENSP00000295101:p.Lys79Gln		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623906	0.46840	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.95069	-3.6;-3.6	5.16	5.16	0.70880	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.044578	0.85682	D	0.000000	D	0.91345	0.7270	L	0.31926	0.97	0.80722	D	1	B;B	0.28850	0.117;0.225	B;B	0.33295	0.053;0.161	D	0.90495	0.4470	10	0.87932	D	0	.	13.8034	0.63216	1.0:0.0:0.0:0.0	.	79;79	B4DEW7;P48549	.;IRK3_HUMAN	Q	79	ENSP00000295101:K79Q;ENSP00000438410:K79Q	ENSP00000295101:K79Q	K	+	1	0	KCNJ3	155263768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.269000	0.95684	1.946000	0.56461	0.454000	0.30748	AAG		0.597	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		C	155555522	A	C	155555522	3	2	525	1	0	0	0	0	1	0	0	0	8054	131	5	5	237	5	KCNJ3	2	155555522	Missense_Mutation	SNP	A	TCGA-CJ-4902-01A-01D-1429-08	41297902	155555522	87643851	14	28045											
TTC30B	150737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178415573	178415573	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr2:178415573T>C	ENST00000408939.3	-	1	2169	c.1919A>G	c.(1918-1920)cAt>cGt	p.H640R		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	640					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.H640R(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTTTCCAACATGCATTCTTTC	0.358																																																1	Substitution - Missense(1)	kidney(1)											146	150	148					2																	178415573		2201	4298	6499	SO:0001583	missense	150737			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1919A>G	2.37:g.178415573T>C	ENSP00000386181:p.His640Arg		Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	T	5.761	0.324738	0.10900	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.16897	2.31	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	M	0.63428	1.95	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.05037	-1.0910	10	0.15952	T	0.53	.	15.0563	0.71915	0.0:0.0:0.0:1.0	.	640	Q8N4P2	TT30B_HUMAN	R	593;640	ENSP00000386181:H640R	ENSP00000386181:H640R	H	-	2	0	TTC30B	178123819	1.000000	0.71417	0.925000	0.36789	0.210000	0.24377	6.885000	0.75606	2.192000	0.70111	0.533000	0.62120	CAT		0.358	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		C	178415573	T	C	178415573	3	2	525	1	0	0	0	0	1	0	0	0	16704	1464	51	3	82	3	TTC30B	2	178415573	Missense_Mutation	SNP	T	TCGA-CJ-4902-01A-01D-1429-08	22860051	178415573	64783800	15	28046											
ARHGAP31	57514	broad.mit.edu;ucsc.edu	37	3	119132967	119132967	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr3:119132967T>A	ENST00000264245.4	+	12	2723	c.2191T>A	c.(2191-2193)Tcc>Acc	p.S731T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	731	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.S731T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACAGGGGGCTTCCACAGCAGC	0.612																																					Pancreas(7;176 297 5394 51128 51241)											1	Substitution - Missense(1)	kidney(1)											52	57	55					3																	119132967		1953	4144	6097	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2191T>A	3.37:g.119132967T>A	ENSP00000264245:p.Ser731Thr		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	T	9.946	1.218768	0.22373	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.05996	3.36	5.08	-0.134	0.13481	.	0.806740	0.11114	N	0.598219	T	0.04092	0.0114	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.43686	-0.9376	10	0.54805	T	0.06	.	0.4947	0.00570	0.25:0.1766:0.3199:0.2535	.	731	Q2M1Z3	RHG31_HUMAN	T	731	ENSP00000264245:S731T	ENSP00000264245:S731T	S	+	1	0	ARHGAP31	120615657	0.000000	0.05858	0.005000	0.12908	0.450000	0.32258	-0.006000	0.12833	0.090000	0.17273	0.533000	0.62120	TCC		0.612	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			A	119132967	T	A	119132967	3	1	525	1	0	0	0	0	1	0	0	0	880	1783	62	5	2237	5	ARHGAP31	3	119132967	Missense_Mutation	SNP	T	TCGA-CJ-4902-01A-01D-1429-08		119132967	78889463	16	28047											
CCDC48	79825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128758645	128758645	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr3:128758645C>T	ENST00000480450.1	+	8	1751	c.1751C>T	c.(1750-1752)gCc>gTc	p.A584V	EFCC1_ENST00000436022.2_Missense_Mutation_p.A147V			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	584	Poly-Ala.						calcium ion binding (GO:0005509)	p.A147V(1)|p.A584V(1)									TCGGCACCAGCCTCTGCAGCA	0.662																																																2	Substitution - Missense(2)	kidney(2)											53	51	52					3																	128758645		2203	4300	6503	SO:0001583	missense	0			AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1751C>T	3.37:g.128758645C>T	ENSP00000420075:p.Ala584Val		A8MYE2	Missense_Mutation	SNP	ENST00000480450.1	37	CCDS3054.2	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839316	0.32513	.	.	ENSG00000114654	ENST00000480450;ENST00000436022	T;T	0.52754	0.66;0.65	3.94	3.06	0.35304	.	0.464062	0.20711	N	0.087081	T	0.39200	0.1069	M	0.63843	1.955	0.09310	N	1	B	0.32573	0.376	B	0.25140	0.058	T	0.37150	-0.9718	10	0.59425	D	0.04	.	7.1202	0.25440	0.0:0.8746:0.0:0.1254	.	584	Q9HA90	CCD48_HUMAN	V	584;147	ENSP00000420075:A584V;ENSP00000414597:A147V	ENSP00000414597:A147V	A	+	2	0	CCDC48	130241335	0.000000	0.05858	0.009000	0.14445	0.013000	0.08279	0.297000	0.19101	0.853000	0.35312	0.491000	0.48974	GCC		0.662	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		T	128758645	C	T	128758645	3	4	525	1	0	0	0	0	1	0	0	0	2821	739	26	2	1781	2	CCDC48	3	128758645	Missense_Mutation	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	9625678	128758645	69263785	17	28048											
ZBTB38	253461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141161785	141161785	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr3:141161785G>T	ENST00000514251.1	+	4	834	c.555G>T	c.(553-555)ttG>ttT	p.L185F	ZBTB38_ENST00000441582.2_Missense_Mutation_p.L185F|ZBTB38_ENST00000321464.5_Missense_Mutation_p.L186F					zinc finger and BTB domain containing 38									p.L185F(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CGCTGGACTTGAGGGCAAGTT	0.498																																																1	Substitution - Missense(1)	kidney(1)											90	85	86					3																	141161785		1967	4150	6117	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.555G>T	3.37:g.141161785G>T	ENSP00000426387:p.Leu185Phe			Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932572	0.52866	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464;ENST00000510726	T;T;T;T;T	0.80304	3.2;2.78;2.78;2.78;-1.36	5.42	3.57	0.40892	.	0.176412	0.37437	N	0.002084	T	0.75034	0.3795	L	0.32530	0.975	0.38394	D	0.945497	D;D	0.53312	0.959;0.959	P;P	0.49085	0.6;0.6	T	0.74884	-0.3512	9	.	.	.	-13.6018	11.1471	0.48436	0.0688:0.2412:0.69:0.0	.	186;185	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	F	185;185;185;186;185	ENSP00000424254:L185F;ENSP00000426387:L185F;ENSP00000406955:L185F;ENSP00000372635:L186F;ENSP00000422081:L185F	.	L	+	3	2	ZBTB38	142644475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.083000	0.41615	1.389000	0.46526	0.591000	0.81541	TTG		0.498	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			T	141161785	G	T	141161785	3	4	525	1	0	0	0	0	1	0	0	0	17544	1281	45	4	557	4	ZBTB38	3	141161785	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	12403140	141161785	56860645	18	28049											
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	79458343	79458343	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr4:79458343T>G	ENST00000264895.6	+	72	11727	c.11287T>G	c.(11287-11289)Ttc>Gtc	p.F3763V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3759					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.F3764V(1)|p.F3763V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAAACACAGATTCCTGCTGTT	0.438																																																2	Substitution - Missense(2)	kidney(2)											68	65	66					4																	79458343		1901	4112	6013	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11287T>G	4.37:g.79458343T>G	ENSP00000264895:p.Phe3763Val		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.724824|4.724824	0.89298|0.89298	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.66280|.	-0.2|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77644|0.77644	0.4161|0.4161	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.79097|0.79097	-0.1943|-0.1943	10|5	0.87932|.	D|.	0|.	.|.	16.1413|16.1413	0.81528|0.81528	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3763|.	E9PHH6|.	.|.	V|S	3763|1991	ENSP00000264895:F3763V|.	ENSP00000264895:F3763V|.	F|I	+|+	1|2	0|0	FRAS1|FRAS1	79677367|79677367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	7.848000|7.848000	0.86902|0.86902	2.270000|2.270000	0.75569|0.75569	0.482000|0.482000	0.46254|0.46254	TTC|ATT		0.438	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	79458343	T	G	79458343	3	3	525	1	0	0	0	0	1	0	0	0	6044	1493	52	5	11648	5	FRAS1	4	79458343	Missense_Mutation	SNP	T	TCGA-CJ-4902-01A-01D-1429-08		79458343	111695933	19	28050											
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127685089	127685089	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr5:127685089C>T	ENST00000508053.1	-	29	3913	c.2939G>A	c.(2938-2940)tGc>tAc	p.C980Y	FBN2_ENST00000508989.1_Missense_Mutation_p.C947Y|FBN2_ENST00000262464.4_Missense_Mutation_p.C980Y			P35556	FBN2_HUMAN	fibrillin 2	980	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C980Y(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGGCACTCGCAATGAAAAGA	0.463																																																2	Substitution - Missense(2)	kidney(2)											119	98	105					5																	127685089		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2939G>A	5.37:g.127685089C>T	ENSP00000424571:p.Cys980Tyr		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949816	0.73787	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99445	-5.91;-5.91;-5.91	4.04	3.17	0.36434	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000005	D	0.99736	0.9896	H	0.98818	4.34	0.80722	D	1	D;D	0.76494	0.999;0.983	D;P	0.79784	0.993;0.857	D	0.97050	0.9763	10	0.87932	D	0	.	14.8009	0.69916	0.0:0.8546:0.1454:0.0	.	947;980	D6RJI3;P35556	.;FBN2_HUMAN	Y	980;980;947	ENSP00000262464:C980Y;ENSP00000424571:C980Y;ENSP00000425596:C947Y	ENSP00000262464:C980Y	C	-	2	0	FBN2	127712988	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.548000	0.82154	1.299000	0.44798	0.655000	0.94253	TGC		0.463	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127685089	C	T	127685089	3	4	525	1	0	0	0	0	1	0	0	0	5705	710	25	2	5971	2	FBN2	5	127685089	Missense_Mutation	SNP	C	TCGA-CJ-4902-01A-01D-1429-08		127685089	53230171	20	28051											
KIF20A	10112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137522869	137522869	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr5:137522869T>C	ENST00000394894.3	+	19	2666	c.2440T>C	c.(2440-2442)Tat>Cat	p.Y814H	KIF20A_ENST00000508792.1_Missense_Mutation_p.Y796H	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	814	Globular. {ECO:0000255}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.Y814H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTGAGCAGTATCATACTGT	0.473																																																1	Substitution - Missense(1)	kidney(1)											89	83	85					5																	137522869		2203	4300	6503	SO:0001583	missense	10112			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.2440T>C	5.37:g.137522869T>C	ENSP00000378356:p.Tyr814His		B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310724	0.60414	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.70516	-0.42;-0.49	5.01	5.01	0.66863	.	0.000000	0.39687	N	0.001281	T	0.78464	0.4287	L	0.54323	1.7	0.41086	D	0.98556	D;D	0.76494	0.998;0.999	P;D	0.66196	0.896;0.942	T	0.75277	-0.3374	10	0.22706	T	0.39	-10.9896	15.1825	0.72972	0.0:0.0:0.0:1.0	.	796;814	B4DL79;O95235	.;KI20A_HUMAN	H	814;796	ENSP00000378356:Y814H;ENSP00000420880:Y796H	ENSP00000378356:Y814H	Y	+	1	0	KIF20A	137550768	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.409000	0.59768	2.231000	0.72958	0.460000	0.39030	TAT		0.473	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		C	137522869	T	C	137522869	3	2	525	1	0	0	0	0	1	0	0	0	8288	1638	57	3	2510	3	KIF20A	5	137522869	Missense_Mutation	SNP	T	TCGA-CJ-4902-01A-01D-1429-08	9837780	137522869	43392391	21	28052											
TXNDC5	81567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7904955	7904955	+	Splice_Site	SNP	A	A	G			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr6:7904955A>G	ENST00000379757.4	-	2	302	c.265T>C	c.(265-267)Tgt>Cgt	p.C89R	TXNDC5_ENST00000539054.1_Splice_Site_p.C17R|TXNDC5_ENST00000473453.1_5'UTR|BLOC1S5-TXNDC5_ENST00000439343.2_Splice_Site_p.V125A	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	89	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)	p.C89R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CAGTGTCCACACCTGGAACAA	0.542																																					Ovarian(119;1430 1625 3928 26125 34589)											1	Substitution - Missense(1)	kidney(1)											101	81	88					6																	7904955		2203	4300	6503	SO:0001630	splice_region_variant	81567			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.264-1T>C	6.37:g.7904955A>G			B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	.	19.57	3.852139	0.71719	.	.	ENSG00000239264	ENST00000539054;ENST00000379757	T;T	0.35236	1.32;1.32	5.11	5.11	0.69529	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.046236	0.85682	D	0.000000	T	0.69967	0.3170	H	0.99058	4.415	0.80722	D	1	D;D	0.71674	0.998;0.987	D;D	0.72075	0.976;0.924	T	0.83277	-0.0040	10	0.87932	D	0	.	13.8867	0.63712	1.0:0.0:0.0:0.0	.	17;89	Q86UY0;Q8NBS9	.;TXND5_HUMAN	R	17;89	ENSP00000442453:C17R;ENSP00000369081:C89R	ENSP00000442453:C17R	C	-	1	0	TXNDC5	7849954	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	8.434000	0.90294	1.907000	0.55213	0.416000	0.27883	TGT		0.542	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810	Missense_Mutation	G	7904955	A	G	7904955	5	3	525	1	0	0	0	0	0	0	1	0	16804	173	6	3	1069	3	TXNDC5	6	7904955	Splice_Site	SNP	A	TCGA-CJ-4902-01A-01D-1429-08		7904955	163210112	22	28053											
GCM1	8521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	52993017	52993017	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr6:52993017C>T	ENST00000259803.7	-	6	1509	c.1298G>A	c.(1297-1299)tGt>tAt	p.C433Y	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	433					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C433Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TCTCAAAGGACACAGGTTCAG	0.403																																																1	Substitution - Missense(1)	kidney(1)											145	148	147					6																	52993017		2203	4300	6503	SO:0001583	missense	8521			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1298G>A	6.37:g.52993017C>T	ENSP00000259803:p.Cys433Tyr		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.343679	0.00222	.	.	ENSG00000137270	ENST00000259803	T	0.72394	-0.65	5.82	1.52	0.23074	.	0.183675	0.39146	N	0.001448	T	0.21921	0.0528	N	0.16656	0.425	0.32546	N	0.533049	B	0.02656	0.0	B	0.04013	0.001	T	0.03184	-1.1063	10	0.11485	T	0.65	-1.6718	2.5516	0.04750	0.3628:0.2909:0.0:0.3463	.	433	Q9NP62	GCM1_HUMAN	Y	433	ENSP00000259803:C433Y	ENSP00000259803:C433Y	C	-	2	0	GCM1	53100976	0.998000	0.40836	1.000000	0.80357	0.013000	0.08279	0.361000	0.20267	0.387000	0.25024	-0.136000	0.14681	TGT		0.403	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			T	52993017	C	T	52993017	3	4	525	1	0	0	0	0	1	0	0	0	6299	478	17	2	16	2	GCM1	6	52993017	Missense_Mutation	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	45088062	52993017	118122050	23	28054											
GRM1	2911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	146720058	146720058	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr6:146720058G>A	ENST00000282753.1	+	7	2118	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q	GRM1_ENST00000361719.2_Missense_Mutation_p.R628Q|GRM1_ENST00000492807.2_Missense_Mutation_p.R628Q|GRM1_ENST00000355289.4_Missense_Mutation_p.R628Q|GRM1_ENST00000507907.1_Missense_Mutation_p.R628Q|GRM1_ENST00000392299.2_Missense_Mutation_p.R628Q			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	628					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R628Q(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCCTCCAGTCGGGAGCTCTGC	0.507																																																2	Substitution - Missense(2)	kidney(2)											299	242	262					6																	146720058		2203	4300	6503	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1883G>A	6.37:g.146720058G>A	ENSP00000282753:p.Arg628Gln		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120440	0.94385	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.81	5.81	0.92471	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93621	0.7963	M	0.73372	2.23	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.70716	0.97;0.924;0.95	D	0.93514	0.6855	10	0.87932	D	0	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	628;628;628	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	Q	628	ENSP00000354896:R628Q;ENSP00000376119:R628Q;ENSP00000424095:R628Q;ENSP00000282753:R628Q;ENSP00000347437:R628Q;ENSP00000425599:R628Q	ENSP00000282753:R628Q	R	+	2	0	GRM1	146761751	1.000000	0.71417	0.966000	0.40874	0.986000	0.74619	9.869000	0.99810	2.761000	0.94854	0.585000	0.79938	CGG		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		A	146720058	G	A	146720058	3	1	525	1	0	0	0	0	1	0	0	0	6798	1116	39	1	1909	1	GRM1	6	146720058	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	93727041	146720058	24395009	24	28055											
GUSB	2990	broad.mit.edu;ucsc.edu	37	7	65439618	65439618	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr7:65439618G>A	ENST00000304895.4	-	7	1269	c.1139C>T	c.(1138-1140)gCt>gTt	p.A380V	GUSB_ENST00000421103.1_Missense_Mutation_p.A234V|GUSB_ENST00000345660.6_Missense_Mutation_p.A329V|GUSB_ENST00000476486.1_5'Flank	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	380					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.A380V(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GGTACGGAAAGCGTTGGCACC	0.592																																																1	Substitution - Missense(1)	kidney(1)											92	85	87					7																	65439618		2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1139C>T	7.37:g.65439618G>A	ENSP00000302728:p.Ala380Val		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827063	0.90955	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95656	-3.77;-3.77;-3.77	4.52	4.52	0.55395	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, family 2, conserved site (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.339317	0.35970	N	0.002875	D	0.97120	0.9059	M	0.75085	2.285	0.44976	D	0.997993	D;P	0.76494	0.999;0.945	P;P	0.62740	0.906;0.586	D	0.97717	1.0194	10	0.87932	D	0	.	16.7966	0.85603	0.0:0.0:1.0:0.0	.	234;380	E9PCV0;P08236	.;BGLR_HUMAN	V	380;234;329	ENSP00000302728:A380V;ENSP00000391390:A234V;ENSP00000340734:A329V	ENSP00000302728:A380V	A	-	2	0	GUSB	65077053	1.000000	0.71417	0.928000	0.36995	0.705000	0.40729	9.313000	0.96297	2.503000	0.84419	0.561000	0.74099	GCT		0.592	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		A	65439618	G	A	65439618	3	1	525	1	0	0	0	0	1	0	0	0	6904	971	34	2	840	2	GUSB	7	65439618	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08		65439618	93699045	25	28056											
HGSNAT	138050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	43002122	43002122	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr8:43002122G>T	ENST00000458501.2	+	2	234	c.234G>T	c.(232-234)aaG>aaT	p.K78N	HGSNAT_ENST00000379644.4_Missense_Mutation_p.K50N			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	78					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.K78N(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CAGAGCTGAAGATGGATCAGG	0.373																																																1	Substitution - Missense(1)	kidney(1)											136	125	129					8																	43002122		1879	4104	5983	SO:0001583	missense	138050				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"transmembrane protein 76"	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.234G>T	8.37:g.43002122G>T	ENSP00000389524:p.Lys78Asn		B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37		.	.	.	.	.	.	.	.	.	.	G	15.61	2.884175	0.51908	.	.	ENSG00000165102	ENST00000458501;ENST00000332689;ENST00000379644	D;D	0.91740	-2.9;-2.9	5.42	3.64	0.41730	.	0.064440	0.64402	D	0.000011	D	0.93058	0.7790	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	D	0.91706	0.5377	10	0.66056	D	0.02	-15.978	8.0566	0.30608	0.184:0.0:0.816:0.0	.	78	Q68CP4	HGNAT_HUMAN	N	78;50;50	ENSP00000389524:K78N;ENSP00000368965:K50N	ENSP00000327833:K50N	K	+	3	2	HGSNAT	43121279	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	2.225000	0.42954	0.677000	0.31305	0.456000	0.33151	AAG		0.373	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		T	43002122	G	T	43002122	3	4	525	1	0	0	0	0	1	0	0	0	7090	933	33	4	156	4	HGSNAT	8	43002122	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08		43002122	103361900	26	28057											
TRPM6	140803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	77416960	77416960	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr9:77416960C>A	ENST00000360774.1	-	16	2100	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q621H|TRPM6_ENST00000376872.3_Intron|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q616H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q616H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q621H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	621					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q621H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TAGCCATCTTCTGCCTTTTCA	0.483																																																1	Substitution - Missense(1)	kidney(1)											132	104	114					9																	77416960		2203	4300	6503	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1863G>T	9.37:g.77416960C>A	ENSP00000354006:p.Gln621His		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301313	0.81136	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.28	4.36	0.52297	.	0.050878	0.85682	N	0.000000	T	0.77471	0.4135	M	0.69463	2.115	0.53005	D	0.999961	D;D	0.89917	1.0;0.982	D;P	0.85130	0.997;0.885	T	0.80516	-0.1348	10	0.87932	D	0	.	15.7827	0.78272	0.0:0.8634:0.1366:0.0	.	621;616	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	H	621;621;616;616;621;284;284	ENSP00000354006:Q621H;ENSP00000407341:Q621H;ENSP00000396672:Q616H;ENSP00000354962:Q616H;ENSP00000366060:Q621H	ENSP00000309693:Q284H	Q	-	3	2	TRPM6	76606780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.258000	0.51507	1.178000	0.42870	0.585000	0.79938	CAG		0.483	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		A	77416960	C	A	77416960	3	1	525	1	0	0	0	0	1	0	0	0	16595	912	32	4	4301	4	TRPM6	9	77416960	Missense_Mutation	SNP	C	TCGA-CJ-4902-01A-01D-1429-08		77416960	63796471	27	28058											
PKN3	29941	broad.mit.edu	37	9	131469089	131469089	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr9:131469089G>A	ENST00000291906.4	+	4	902	c.509G>A	c.(508-510)gGg>gAg	p.G170E	RN7SL560P_ENST00000577943.1_RNA	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	170					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)	p.G170E(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GAGGCCAGTGGGTCCCCGGAG	0.672																																																1	Substitution - Missense(1)	kidney(1)											23	27	25					9																	131469089		2203	4300	6503	SO:0001583	missense	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.509G>A	9.37:g.131469089G>A	ENSP00000291906:p.Gly170Glu		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703413	0.30232	.	.	ENSG00000160447	ENST00000291906	T	0.16597	2.33	5.08	0.188	0.15114	.	.	.	.	.	T	0.06917	0.0176	N	0.14661	0.345	0.50039	D	0.999844	B;B	0.16166	0.004;0.016	B;B	0.19946	0.013;0.027	T	0.34601	-0.9822	9	0.21014	T	0.42	.	0.3804	0.00394	0.3031:0.1904:0.314:0.1924	.	170;170	Q05BU1;Q6P5Z2	.;PKN3_HUMAN	E	170	ENSP00000291906:G170E	ENSP00000291906:G170E	G	+	2	0	PKN3	130508910	1.000000	0.71417	0.842000	0.33263	0.886000	0.51366	2.206000	0.42779	0.113000	0.18004	0.561000	0.74099	GGG		0.672	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		A	131469089	G	A	131469089	3	1	525	1	0	0	0	0	1	0	0	0	11983	1232	43	2	523	2	PKN3	9	131469089	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	54052129	131469089	9744342	28	28059											
POLR3A	11128	hgsc.bcm.edu;ucsc.edu	37	10	79764626	79764626	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr10:79764626C>A	ENST00000372371.3	-	16	2232	c.2095G>T	c.(2095-2097)Ggg>Tgg	p.G699W		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	699					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.G699W(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCACCGATCCCAATTGAGAAA	0.468																																																1	Substitution - Missense(1)	kidney(1)											109	93	99					10																	79764626		2203	4300	6503	SO:0001583	missense	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2095G>T	10.37:g.79764626C>A	ENSP00000361446:p.Gly699Trp		Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033399	0.93575	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	D	0.82893	-1.66	5.9	5.9	0.94986	RNA polymerase Rpb1, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96281	0.9206	9	.	.	.	-25.474	20.274	0.98482	0.0:1.0:0.0:0.0	.	699	O14802	RPC1_HUMAN	W	699	ENSP00000361446:G699W	.	G	-	1	0	POLR3A	79434632	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.487000	0.81328	2.797000	0.96272	0.650000	0.86243	GGG		0.468	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		A	79764626	C	A	79764626	3	1	525	1	0	0	0	0	1	0	0	0	12230	594	21	4	2141	4	POLR3A	10	79764626	Missense_Mutation	SNP	C	TCGA-CJ-4902-01A-01D-1429-08		79764626	55770121	29	28060											
FAM190B	54462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	86130886	86130886	+	Silent	SNP	A	A	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr10:86130886A>T	ENST00000224756.8	+	2	263	c.78A>T	c.(76-78)acA>acT	p.T26T	CCSER2_ENST00000372088.2_Silent_p.T26T|CCSER2_ENST00000359979.4_Silent_p.T26T	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	26					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.T26T(1)									TAAGAAGTACATTGCAGCCAA	0.348																																																1	Substitution - coding silent(1)	kidney(1)											52	52	52					10																	86130886		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.78A>T	10.37:g.86130886A>T			B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Silent	SNP	ENST00000224756.8	37	CCDS31235.1																																																																																				0.348	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		T	86130886	A	T	86130886	2	4	525	1	0	0	0	0	0	0	0	1	5524	204	8	5		5	FAM190B	10	86130886	Silent	SNP	A	TCGA-CJ-4902-01A-01D-1429-08	6366260	86130886	49403861	30	28061											
GRID1	2894	broad.mit.edu;hgsc.bcm.edu	37	10	87407096	87407096	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr10:87407096C>T	ENST00000327946.7	-	13	2141	c.2056G>A	c.(2056-2058)Gct>Act	p.A686T	GRID1_ENST00000536331.1_Missense_Mutation_p.A257T|RN7SKP238_ENST00000516483.1_RNA|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	686					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A686T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TCATATACAGCAGAATCCCGG	0.542										Multiple Myeloma(13;0.14)																																						1	Substitution - Missense(1)	kidney(1)											275	256	262					10																	87407096		2203	4300	6503	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2056G>A	10.37:g.87407096C>T	ENSP00000330148:p.Ala686Thr		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845538	0.71603	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.19394	2.15;2.15	5.7	5.7	0.88788	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.049674	0.85682	D	0.000000	T	0.22126	0.0533	L	0.56199	1.76	0.80722	D	1	P	0.35575	0.51	B	0.32342	0.144	T	0.02144	-1.1206	10	0.87932	D	0	.	13.7515	0.62910	0.1535:0.8465:0.0:0.0	.	686	Q9ULK0	GRID1_HUMAN	T	686;257	ENSP00000330148:A686T;ENSP00000444455:A257T	ENSP00000330148:A686T	A	-	1	0	GRID1	87397076	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	4.433000	0.59929	2.693000	0.91896	0.650000	0.86243	GCT		0.542	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		T	87407096	C	T	87407096	3	4	525	1	0	0	0	0	1	0	0	0	6773	710	25	2	989	2	GRID1	10	87407096	Missense_Mutation	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	1276210	87407096	48127651	31	28062											
KCNK18	338567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	118957020	118957020	+	Silent	SNP	C	C	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr10:118957020C>T	ENST00000334549.1	+	1	21	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	7					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.P7P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CGGGGCACCCCCAGGCCAGGA	0.632																																																1	Substitution - coding silent(1)	kidney(1)											62	61	61					10																	118957020		2203	4300	6503	SO:0001819	synonymous_variant	338567			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.21C>T	10.37:g.118957020C>T			Q5SQQ8	Silent	SNP	ENST00000334549.1	37	CCDS7598.1																																																																																				0.632	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		T	118957020	C	T	118957020	2	4	525	1	0	0	0	0	0	0	0	1	8067	610	22	2		2	KCNK18	10	118957020	Silent	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	31549924	118957020	16577727	32	28063											
MUC5B	727897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1264193	1264193	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr11:1264193C>G	ENST00000529681.1	+	31	6141	c.6083C>G	c.(6082-6084)aCc>aGc	p.T2028S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T2031S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2028	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2028S(1)|p.T2031S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACGGCCACCACAACTGGG	0.632																																																2	Substitution - Missense(2)	kidney(2)											128	155	146					11																	1264193		2095	4204	6299	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6083C>G	11.37:g.1264193C>G	ENSP00000436812:p.Thr2028Ser		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	6.839	0.524083	0.13066	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20200	2.09;2.31	2.99	-1.02	0.10135	.	.	.	.	.	T	0.18635	0.0447	M	0.68317	2.08	0.09310	N	1	P;P	0.47762	0.9;0.9	B;B	0.41332	0.286;0.354	T	0.19063	-1.0317	9	0.87932	D	0	.	1.8362	0.03140	0.1579:0.4696:0.1557:0.2168	.	2721;2031	A7Y9J9;E9PBJ0	.;.	S	2028;2031;2029;2098	ENSP00000436812:T2028S;ENSP00000415793:T2031S	ENSP00000343037:T2029S	T	+	2	0	MUC5B	1220769	0.032000	0.19561	0.001000	0.08648	0.012000	0.07955	2.427000	0.44740	-0.077000	0.12752	0.305000	0.20034	ACC		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		G	1264193	C	G	1264193	3	3	525	1	0	0	0	0	1	0	0	0	9981	507	18	4	6214	4	MUC5B	11	1264193	Missense_Mutation	SNP	C	TCGA-CJ-4902-01A-01D-1429-08		1264193	133742323	33	28064											
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu	37	11	62295513	62295513	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr11:62295513A>T	ENST00000378024.4	-	5	6650	c.6376T>A	c.(6376-6378)Ttg>Atg	p.L2126M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2126					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.L2126M(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCTTTCAAGTGTAAGTCC	0.517																																																1	Substitution - Missense(1)	kidney(1)											191	205	200					11																	62295513		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6376T>A	11.37:g.62295513A>T	ENSP00000367263:p.Leu2126Met		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	8.064	0.768833	0.15983	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01998	4.51	3.51	-5.48	0.02592	.	.	.	.	.	T	0.10035	0.0246	M	0.77103	2.36	0.09310	N	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.00054	-1.2184	9	0.46703	T	0.11	.	13.5062	0.61485	0.3321:0.0:0.6679:0.0	.	2126	Q09666	AHNK_HUMAN	M	215;2126	ENSP00000367263:L2126M	ENSP00000244934:L215M	L	-	1	2	AHNAK	62052089	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-2.187000	0.01250	-1.449000	0.01938	0.248000	0.18094	TTG		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62295513	A	T	62295513	3	4	525	1	0	0	0	0	1	0	0	0	414	69	3	5	11416	5	AHNAK	11	62295513	Missense_Mutation	SNP	A	TCGA-CJ-4902-01A-01D-1429-08	61031320	62295513	72711003	34	28065											
USP35	57558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77919916	77919916	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr11:77919916C>A	ENST00000529308.1	+	9	1760	c.1499C>A	c.(1498-1500)tCc>tAc	p.S500Y	USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_Missense_Mutation_p.S86Y|USP35_ENST00000530267.1_Missense_Mutation_p.S68Y|USP35_ENST00000526425.1_Missense_Mutation_p.S231Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	500	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.S256Y(1)|p.S500Y(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCTGCCATTTCCCCAGAGAAC	0.612																																																2	Substitution - Missense(2)	kidney(2)											98	103	102					11																	77919916		2092	4208	6300	SO:0001583	missense	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1499C>A	11.37:g.77919916C>A	ENSP00000431876:p.Ser500Tyr			Missense_Mutation	SNP	ENST00000529308.1	37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861779	0.51482	.	.	ENSG00000118369	ENST00000530267;ENST00000528910;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	4.5	4.5	0.54988	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.49305	D	0.000148	T	0.65238	0.2672	M	0.87971	2.92	0.41099	D	0.985657	D;D	0.71674	0.998;0.998	D;D	0.70016	0.967;0.967	T	0.73953	-0.3820	10	0.72032	D	0.01	-18.0586	17.3818	0.87407	0.0:1.0:0.0:0.0	.	500;86	Q9P2H5;E7EWV7	UBP35_HUMAN;.	Y	68;256;500;86;231	ENSP00000435468:S68Y;ENSP00000436001:S256Y;ENSP00000431876:S500Y;ENSP00000400825:S86Y;ENSP00000434942:S231Y	ENSP00000400825:S86Y	S	+	2	0	USP35	77597564	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	5.499000	0.66937	2.343000	0.79666	0.585000	0.79938	TCC		0.612	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		A	77919916	C	A	77919916	3	1	525	1	0	0	0	0	1	0	0	0	17071	855	30	4	1529	4	USP35	11	77919916	Missense_Mutation	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	15624403	77919916	57086600	35	28066											
AMICA1	120425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118074350	118074350	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr11:118074350G>T	ENST00000356289.5	-	6	738	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	AMICA1_ENST00000292067.7_Missense_Mutation_p.L179I|AMICA1_ENST00000526620.1_Missense_Mutation_p.L150I|AMICA1_ENST00000533261.1_Missense_Mutation_p.L178I	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	189	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.L179I(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GACATCCTGAGTTTGTGGTAG	0.493																																																1	Substitution - Missense(1)	kidney(1)											91	91	91					11																	118074350		2200	4296	6496	SO:0001583	missense	120425			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.565C>A	11.37:g.118074350G>T	ENSP00000348635:p.Leu189Ile		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	G	8.191	0.795927	0.16327	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867	D;D;T;D	0.94457	-3.43;-3.43;-0.23;-3.43	3.96	3.04	0.35103	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.065980	0.07449	N	0.898700	D	0.92685	0.7675	L	0.48362	1.52	0.09310	N	1	B;B;B;B;B	0.33777	0.029;0.425;0.029;0.029;0.024	B;B;B;B;B	0.40659	0.124;0.336;0.124;0.124;0.076	D	0.83760	0.0214	10	0.33940	T	0.23	-1.1909	7.7445	0.28860	0.122:0.0:0.878:0.0	.	189;150;189;178;179	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	I	189;179;178;150;150	ENSP00000348635:L189I;ENSP00000292067:L179I;ENSP00000436117:L178I;ENSP00000431218:L150I	ENSP00000292067:L179I	L	-	1	0	AMICA1	117579560	0.004000	0.15560	0.004000	0.12327	0.022000	0.10575	0.366000	0.20365	0.755000	0.32990	0.491000	0.48974	CTC		0.493	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		T	118074350	G	T	118074350	3	4	525	1	0	0	0	0	1	0	0	0	574	1029	36	4	639	4	AMICA1	11	118074350	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	40154434	118074350	16932166	36	28067											
HMBS	3145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118963206	118963206	+	Silent	SNP	C	C	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr11:118963206C>A	ENST00000278715.3	+	11	895	c.744C>A	c.(742-744)atC>atA	p.I248I	HMBS_ENST00000543090.1_Silent_p.I217I|HMBS_ENST00000442944.2_Silent_p.I231I|HMBS_ENST00000544387.1_Intron|HMBS_ENST00000392841.1_Silent_p.I231I|HMBS_ENST00000537841.1_Silent_p.I231I|HMBS_ENST00000542729.1_Intron	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	248			I -> IETLLRCI (in AIP).		heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)	p.I248I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TTCGCTGCATCGCTGAAAGGG	0.607																																																1	Substitution - coding silent(1)	kidney(1)											110	105	107					11																	118963206		2200	4295	6495	SO:0001819	synonymous_variant	3145			X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"uroporphyrinogen I synthase", "porphobilinogen deaminase", "porphyria, acute; Chester type"	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.744C>A	11.37:g.118963206C>A			A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Silent	SNP	ENST00000278715.3	37	CCDS8409.1																																																																																				0.607	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		A	118963206	C	A	118963206	2	1	525	1	0	0	0	0	0	0	0	1	7221	874	31	4		4	HMBS	11	118963206	Silent	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	888856	118963206	16043310	37	28068											
VWF	7450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6204730	6204730	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr12:6204730A>T	ENST00000261405.5	-	6	807	c.553T>A	c.(553-555)Tat>Aat	p.Y185N	VWF_ENST00000572068.1_Missense_Mutation_p.Y222N|RN7SL69P_ENST00000468423.2_RNA	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	185	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.Y185N(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAAGTCATAAGGGTCCGAG	0.512																																																1	Substitution - Missense(1)	kidney(1)											125	114	118					12																	6204730		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.553T>A	12.37:g.6204730A>T	ENSP00000261405:p.Tyr185Asn		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.128996	0.37533	.	.	ENSG00000110799	ENST00000261405	T	0.35421	1.31	4.85	4.85	0.62838	von Willebrand factor, type D domain (1);	0.000000	0.36034	N	0.002826	T	0.52354	0.1729	L	0.51914	1.62	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.99;0.99	T	0.53143	-0.8480	10	0.56958	D	0.05	.	12.1053	0.53810	1.0:0.0:0.0:0.0	.	185;222;185	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	N	185	ENSP00000261405:Y185N	ENSP00000261405:Y185N	Y	-	1	0	VWF	6074991	1.000000	0.71417	0.965000	0.40720	0.230000	0.25150	4.825000	0.62708	1.948000	0.56530	0.379000	0.24179	TAT		0.512	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6204730	A	T	6204730	3	4	525	1	0	0	0	0	1	0	0	0	17251	362	13	5	8076	5	VWF	12	6204730	Missense_Mutation	SNP	A	TCGA-CJ-4902-01A-01D-1429-08		6204730	127647165	38	28069											
A2M	2	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9230391	9230391	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr12:9230391G>A	ENST00000318602.7	-	26	3489	c.3182C>T	c.(3181-3183)gCa>gTa	p.A1061V	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1061					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.A1061V(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGTAATGTGTGCTTCATCGAT	0.488																																																1	Substitution - Missense(1)	kidney(1)											128	130	130					12																	9230391		2203	4300	6503	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3182C>T	12.37:g.9230391G>A	ENSP00000323929:p.Ala1061Val		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001556	0.35320	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.37915	1.17	5.76	1.49	0.22878	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.864013	0.10196	N	0.704035	T	0.31857	0.0810	L	0.52364	1.645	0.09310	N	1	B	0.14012	0.009	B	0.18871	0.023	T	0.27872	-1.0061	10	0.38643	T	0.18	.	8.7941	0.34868	0.0751:0.0:0.3428:0.5821	.	1061	P01023	A2MG_HUMAN	V	1061;1076	ENSP00000323929:A1061V	ENSP00000323929:A1061V	A	-	2	0	A2M	9121658	0.000000	0.05858	0.969000	0.41365	0.862000	0.49288	0.003000	0.13083	0.297000	0.22615	0.585000	0.79938	GCA		0.488	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		A	9230391	G	A	9230391	3	1	525	1	0	0	0	0	1	0	0	0	4	1319	46	2	1286	2	A2M	12	9230391	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	3025661	9230391	124621504	39	28070			1	44		2	2	15	G		2.984766e-05
A2M	2	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9230405	9230405	+	Silent	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr12:9230405G>A	ENST00000318602.7	-	26	3475	c.3168C>T	c.(3166-3168)atC>atT	p.I1056I	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1056					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.I1056I(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CATCGATGAAGATGTAGGCTC	0.473																																																1	Substitution - coding silent(1)	kidney(1)											124	128	126					12																	9230405		2203	4300	6503	SO:0001819	synonymous_variant	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3168C>T	12.37:g.9230405G>A			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	CCDS44827.1																																																																																				0.473	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		A	9230405	G	A	9230405	2	1	525	1	0	0	0	0	0	0	0	1	4	932	33	2		2	A2M	12	9230405	Silent	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	14	9230405	124621490	40	28071			1	44		2	2	15	G		2.984766e-05
P2RX2	22953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133196058	133196058	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr12:133196058G>T	ENST00000389110.3	+	2	244	c.207G>T	c.(205-207)gaG>gaT	p.E69D	P2RX2_ENST00000449132.2_Missense_Mutation_p.E69D|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000352418.4_Nonsense_Mutation_p.E47*|P2RX2_ENST00000343948.4_Missense_Mutation_p.E69D|P2RX2_ENST00000348800.5_Missense_Mutation_p.E69D|P2RX2_ENST00000350048.5_Missense_Mutation_p.E69D	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	69					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.E69D(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GCTACCAGGAGAGCGAGACGG	0.662																																																1	Substitution - Missense(1)	kidney(1)											86	84	85					12																	133196058		2203	4300	6503	SO:0001583	missense	22953			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.207G>T	12.37:g.133196058G>T	ENSP00000373762:p.Glu69Asp		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Nonsense_Mutation	SNP	ENST00000389110.3	37	CCDS31931.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.8|26.8|26.8	4.777016|4.777016|4.777016	0.90195|0.90195|0.90195	.|.|.	.|.|.	ENSG00000187848|ENSG00000187848|ENSG00000187848	ENST00000389110;ENST00000449132;ENST00000343948;ENST00000350048;ENST00000348800|ENST00000352418|ENST00000542301;ENST00000536121;ENST00000535910	T;T;T;T;T|.|.	0.04551|.|.	3.6;3.6;3.6;3.6;3.6|.|.	4.44|4.44|4.44	1.41|1.41|1.41	0.22369|0.22369|0.22369	.|.|.	0.295951|0.295951|.	0.36200|0.36200|.	N|N|.	0.002735|0.002735|.	T|.|T	0.32734|.|0.32734	0.0839|.|0.0839	.|.|.	.|.|.	.|.|.	0.31050|0.31050|0.31050	N|N|N	0.71534|0.71534|0.71534	B;B;B;B;B;B|.|.	0.13594|.|.	0.003;0.008;0.004;0.004;0.003;0.001|.|.	B;B;B;B;B;B|.|.	0.21360|.|.	0.007;0.034;0.006;0.004;0.007;0.002|.|.	T|.|T	0.34378|.|0.34378	-0.9831|.|-0.9831	9|.|4	0.11182|0.72032|.	T|D|.	0.66|0.01|.	-20.4988|-20.4988|-20.4988	5.7002|5.7002|5.7002	0.17877|0.17877|0.17877	0.1208:0.3445:0.4516:0.0831|0.1208:0.3445:0.4516:0.0831|0.1208:0.3445:0.4516:0.0831	.|.|.	69;69;69;69;69;69|.|.	Q32MC3;Q9UBL9-7;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2|.|.	.;.;.;.;P2RX2_HUMAN;.|.|.	D|X|I	69|47|80;55;25	ENSP00000373762:E69D;ENSP00000405531:E69D;ENSP00000343339:E69D;ENSP00000343904:E69D;ENSP00000345095:E69D|.|.	ENSP00000343339:E69D|ENSP00000341419:E47X|.	E|E|R	+|+|+	3|1|2	2|0|0	P2RX2|P2RX2|P2RX2	131706131|131706131|131706131	0.376000|0.376000|0.376000	0.25098|0.25098|0.25098	0.996000|0.996000|0.996000	0.52242|0.52242|0.52242	0.924000|0.924000|0.924000	0.55760|0.55760|0.55760	0.388000|0.388000|0.388000	0.20735|0.20735|0.20735	-0.029000|-0.029000|-0.029000	0.13827|0.13827|0.13827	-0.430000|-0.430000|-0.430000	0.05897|0.05897|0.05897	GAG|GAG|AGA		0.662	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			T	133196058	G	T	133196058	3	4	525	1	0	0	0	0	1	0	0	0	11342	943	33	4	213	4	P2RX2	12	133196058	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	123965653	133196058	655837	41	28072											
STYX	6815	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	53213187	53213187	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr14:53213187T>A	ENST00000354586.4	+	3	427	c.134T>A	c.(133-135)aTg>aAg	p.M45K	STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Missense_Mutation_p.M45K	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	45					MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.M45K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TCATCTGCTATGAAAAGCAAG	0.289																																																1	Substitution - Missense(1)	kidney(1)											62	64	63					14																	53213187		2202	4298	6500	SO:0001583	missense	6815				CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	11447	protein-coding gene	gene with protein product		615814	"serine/threonine/tyrosine-interacting protein"			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.134T>A	14.37:g.53213187T>A	ENSP00000346599:p.Met45Lys		B9EJG0|Q99850	Missense_Mutation	SNP	ENST00000354586.4	37	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360905	0.41801	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	D;D	0.84800	-1.9;-1.9	5.38	5.38	0.77491	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.187173	0.64402	D	0.000003	T	0.75339	0.3836	L	0.31578	0.945	0.80722	D	1	P	0.35242	0.492	B	0.28139	0.086	T	0.73681	-0.3906	10	0.18710	T	0.47	.	15.6747	0.77307	0.0:0.0:0.0:1.0	.	45	Q8WUJ0	STYX_HUMAN	K	45	ENSP00000403214:M45K;ENSP00000346599:M45K	ENSP00000346599:M45K	M	+	2	0	STYX	52282937	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.801000	0.75170	2.166000	0.68216	0.533000	0.62120	ATG		0.289	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251		A	53213187	T	A	53213187	3	1	525	1	0	0	0	0	1	0	0	0	15365	1464	51	5	144	5	STYX	14	53213187	Missense_Mutation	SNP	T	TCGA-CJ-4902-01A-01D-1429-08		53213187	54136353	42	28073											
RTL1	388015	broad.mit.edu;ucsc.edu	37	14	101347402	101347402	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr14:101347402G>A	ENST00000534062.1	-	1	3782	c.3724C>T	c.(3724-3726)Cgt>Tgt	p.R1242C	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1242					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.R1242C(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGACGGTAACGTTGCAGGTCG	0.632																																																1	Substitution - Missense(1)	kidney(1)											20	20	20					14																	101347402		1568	3580	5148	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3724C>T	14.37:g.101347402G>A	ENSP00000435342:p.Arg1242Cys		E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319564	0.60524	.	.	ENSG00000254656	ENST00000534062	T	0.46063	0.88	3.48	2.55	0.30701	.	0.000000	0.35013	N	0.003510	T	0.43033	0.1229	L	0.29908	0.895	0.29790	N	0.833286	D	0.76494	0.999	P	0.59487	0.858	T	0.37056	-0.9722	10	0.87932	D	0	.	8.0406	0.30519	0.0:0.0:0.7579:0.2421	.	1242	E9PKS8	.	C	1242	ENSP00000435342:R1242C	ENSP00000435342:R1242C	R	-	1	0	RTL1	100417155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.874000	0.39568	0.992000	0.38840	0.655000	0.94253	CGT		0.632	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		A	101347402	G	A	101347402	3	1	525	1	0	0	0	0	1	0	0	0	13730	1145	40	1	356	1	RTL1	14	101347402	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	48134215	101347402	6002138	43	28074											
TUBGCP5	114791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	22846911	22846911	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr15:22846911G>C	ENST00000283645.4	+	8	916	c.786G>C	c.(784-786)agG>agC	p.R262S	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R262S	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	262					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.R262S(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CAGATGACAGGGTTTTGGTTA	0.353																																																1	Substitution - Missense(1)	kidney(1)											145	125	132					15																	22846911		2203	4300	6503	SO:0001583	missense	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.786G>C	15.37:g.22846911G>C	ENSP00000283645:p.Arg262Ser		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.731425	0.30684	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.23754	1.89;1.89	4.93	-6.3	0.02007	.	0.108809	0.64402	N	0.000009	T	0.09992	0.0245	L	0.27053	0.805	0.23361	N	0.997836	B;B	0.33583	0.418;0.418	B;B	0.21151	0.033;0.033	T	0.32508	-0.9904	10	0.14656	T	0.56	-14.6251	10.5009	0.44804	0.5496:0.087:0.3634:0.0	.	262;262	Q96RT8;E9PB12	GCP5_HUMAN;.	S	262	ENSP00000283645:R262S;ENSP00000409217:R262S	ENSP00000283645:R262S	R	+	3	2	TUBGCP5	20398352	0.994000	0.37717	0.052000	0.19188	0.967000	0.64934	0.506000	0.22658	-1.218000	0.02601	-0.880000	0.02959	AGG		0.353	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		C	22846911	G	C	22846911	3	2	525	1	0	0	0	0	1	0	0	0	16774	1223	43	4	816	4	TUBGCP5	15	22846911	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08		22846911	79684481	44	28075											
MTMR10	54893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	31266655	31266655	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr15:31266655G>T	ENST00000435680.1	-	5	433	c.336C>A	c.(334-336)aaC>aaA	p.N112K	MTMR10_ENST00000314404.8_5'Flank|MTMR10_ENST00000425768.1_Missense_Mutation_p.N112K|MTMR10_ENST00000563714.1_Missense_Mutation_p.N30K	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	112							phosphatase activity (GO:0016791)	p.N30K(1)|p.N112K(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TCTTGTGGTCGTTTACTAAAA	0.303																																																2	Substitution - Missense(2)	kidney(2)											45	43	44					15																	31266655		1796	4059	5855	SO:0001583	missense	54893			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.336C>A	15.37:g.31266655G>T	ENSP00000402537:p.Asn112Lys		Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843233	0.51057	.	.	ENSG00000166912	ENST00000435680;ENST00000425768;ENST00000340566	D;T	0.94931	-3.56;0.87	5.49	3.18	0.36537	.	0.000000	0.85682	D	0.000000	D	0.94938	0.8363	L	0.53249	1.67	0.53688	D	0.999974	D;D	0.69078	0.989;0.997	P;D	0.64237	0.753;0.923	D	0.92675	0.6153	9	.	.	.	.	9.2248	0.37400	0.7934:0.0:0.2066:0.0	.	30;112	Q9NXD2-2;Q9NXD2	.;MTMRA_HUMAN	K	112;112;30	ENSP00000402537:N112K;ENSP00000412314:N112K	.	N	-	3	2	MTMR10	29053947	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.511000	0.53400	0.465000	0.27167	-0.254000	0.11334	AAC		0.303	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		T	31266655	G	T	31266655	3	4	525	1	0	0	0	0	1	0	0	0	9941	1136	40	4	2045	4	MTMR10	15	31266655	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	8419744	31266655	71264737	45	28076											
RYR3	6263	broad.mit.edu;ucsc.edu	37	15	34118467	34118467	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr15:34118467C>T	ENST00000389232.4	+	83	11231	c.11161C>T	c.(11161-11163)Cgt>Tgt	p.R3721C	RYR3_ENST00000415757.3_Missense_Mutation_p.R3716C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3721					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)	p.R3720C(1)		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)		TGTTCGGGAACGTGGTAAGTT	0.378																																																1	Substitution - Missense(1)	kidney(1)											223	194	203					15																	34118467		1862	4107	5969	SO:0001583	missense	6263				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.11161C>T	15.37:g.34118467C>T	ENSP00000373884:p.Arg3721Cys		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812212	0.70797	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.96716	-4.1	5.35	4.43	0.53597	.	0.162693	0.39146	N	0.001452	D	0.91764	0.7395	N	0.22421	0.69	0.58432	D	0.999997	B;D	0.58620	0.022;0.983	B;B	0.41299	0.003;0.353	D	0.92007	0.5615	10	0.56958	D	0.05	.	12.5284	0.56100	0.0:0.9236:0.0:0.0764	.	3716;3721	Q15413-2;Q15413	.;RYR3_HUMAN	C	3721;3720;3717	ENSP00000373884:R3721C	ENSP00000354735:R3717C	R	+	1	0	RYR3	31905759	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	2.266000	0.43320	1.630000	0.50440	0.655000	0.94253	CGT		0.378	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	34118467	C	T	34118467	3	4	525	1	0	0	0	0	1	0	0	0	13776	536	19	1	11491	1	RYR3	15	34118467	Missense_Mutation	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	2851812	34118467	68412925	46	28077											
AP4E1	23431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51293254	51293254	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr15:51293254A>G	ENST00000261842.5	+	20	3233	c.3127A>G	c.(3127-3129)Aaa>Gaa	p.K1043E	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.K968E	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1043					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.K1043E(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CGACTTTGGGAAACTCTGGTT	0.313																																																1	Substitution - Missense(1)	kidney(1)											92	95	94					15																	51293254		2196	4294	6490	SO:0001583	missense	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3127A>G	15.37:g.51293254A>G	ENSP00000261842:p.Lys1043Glu		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097112	0.76870	.	.	ENSG00000081014	ENST00000261842	T	0.18502	2.21	5.06	3.92	0.45320	Coatomer, beta subunit, C-terminal (1);	0.255437	0.39210	N	0.001428	T	0.30448	0.0765	L	0.56769	1.78	0.42940	D	0.994345	D	0.57571	0.98	P	0.57324	0.818	T	0.02398	-1.1165	10	0.52906	T	0.07	-12.4087	11.4298	0.50034	0.8487:0.1513:0.0:0.0	.	1043	Q9UPM8	AP4E1_HUMAN	E	1043	ENSP00000261842:K1043E	ENSP00000261842:K1043E	K	+	1	0	AP4E1	49080546	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.859000	0.62954	0.930000	0.37217	0.533000	0.62120	AAA		0.313	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			G	51293254	A	G	51293254	3	3	525	1	0	0	0	0	1	0	0	0	752	247	9	3	3205	3	AP4E1	15	51293254	Missense_Mutation	SNP	A	TCGA-CJ-4902-01A-01D-1429-08	17174787	51293254	51238138	47	28078											
AKAP13	11214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	86123644	86123644	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr15:86123644A>G	ENST00000394518.2	+	7	2440	c.2345A>G	c.(2344-2346)gAc>gGc	p.D782G	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.D782G	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	782					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.D782G(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTAATATCAGACAGTACTTTC	0.443																																					Melanoma(94;603 1453 3280 32295 32951)											1	Substitution - Missense(1)	kidney(1)											113	116	115					15																	86123644		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2345A>G	15.37:g.86123644A>G	ENSP00000378026:p.Asp782Gly		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	6.209	0.406789	0.11754	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.09073	3.02;3.03	5.88	-5.75	0.02384	.	.	.	.	.	T	0.03651	0.0104	N	0.17082	0.46	0.20074	N	0.999935	B;B	0.11235	0.002;0.004	B;B	0.08055	0.001;0.003	T	0.47071	-0.9145	9	0.02654	T	1	.	9.9106	0.41403	0.3309:0.1256:0.5434:0.0	.	782;782	Q12802;Q12802-2	AKP13_HUMAN;.	G	782;782;781;781	ENSP00000354718:D782G;ENSP00000378026:D782G	ENSP00000354718:D782G	D	+	2	0	AKAP13	83924648	0.219000	0.23619	0.037000	0.18230	0.893000	0.52053	-0.112000	0.10791	-1.482000	0.01860	0.533000	0.62120	GAC		0.443	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		G	86123644	A	G	86123644	3	3	525	1	0	0	0	0	1	0	0	0	449	275	10	3	2367	3	AKAP13	15	86123644	Missense_Mutation	SNP	A	TCGA-CJ-4902-01A-01D-1429-08	34830390	86123644	16407748	48	28079											
ANPEP	290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90349608	90349608	+	Silent	SNP	T	T	C			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr15:90349608T>C	ENST00000300060.6	-	2	520	c.207A>G	c.(205-207)aaA>aaG	p.K69K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	69	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.K69K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GATTCCACGCTTTACTTTGGT	0.617																																					NSCLC(30;827 977 2459 19669 26125)											1	Substitution - coding silent(1)	kidney(1)											128	118	122					15																	90349608		2200	4299	6499	SO:0001819	synonymous_variant	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.207A>G	15.37:g.90349608T>C			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	CCDS10356.1																																																																																				0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			C	90349608	T	C	90349608	2	2	525	1	0	0	0	0	0	0	0	1	710	1606	56	3		3	ANPEP	15	90349608	Silent	SNP	T	TCGA-CJ-4902-01A-01D-1429-08	4225964	90349608	12181784	49	28080											
PRSS21	10942	broad.mit.edu	37	16	2867459	2867459	+	Splice_Site	SNP	T	T	G			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr16:2867459T>G	ENST00000005995.3	+	2	133		c.e2+2		PRSS21_ENST00000450020.3_Splice_Site|PRSS21_ENST00000455114.1_Splice_Site			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)						spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CGTTATCAGGTAGGGCGCCCA	0.721																																																1	Unknown(1)	kidney(1)											8	8	8					16																	2867459		1927	3841	5768	SO:0001630	splice_region_variant	10942			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.91+2T>G	16.37:g.2867459T>G			Q9NS34|Q9P2V6	Splice_Site	SNP	ENST00000005995.3	37	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	t	8.127	0.782172	0.16189	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	.	.	.	3.39	0.146	0.14833	.	.	.	.	.	.	.	.	.	.	.	0.25438	N	0.988129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8506	0.03168	0.255:0.2367:0.0:0.5083	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS21	2807460	0.007000	0.16637	0.037000	0.18230	0.061000	0.15899	0.193000	0.17116	0.269000	0.21961	0.330000	0.21533	.		0.721	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799	Intron	G	2867459	T	G	2867459	5	3	525	1	0	0	0	0	0	0	1	0	12623	1652	57	5	99	5	PRSS21	16	2867459	Splice_Site	SNP	T	TCGA-CJ-4902-01A-01D-1429-08		2867459	87487294	50	28081											
MYH11	4629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15841458	15841458	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr16:15841458G>C	ENST00000300036.5	-	19	2489	c.2380C>G	c.(2380-2382)Cag>Gag	p.Q794E	MYH11_ENST00000452625.2_Missense_Mutation_p.Q801E|MYH11_ENST00000396324.3_Missense_Mutation_p.Q801E|MYH11_ENST00000576790.2_Missense_Mutation_p.Q794E	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	794	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.Q801E(1)|p.Q794E(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CACATCGCCTGGAAGGCCATG	0.498			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	2	Substitution - Missense(2)	kidney(2)											114	104	107					16																	15841458		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2380C>G	16.37:g.15841458G>C	ENSP00000300036:p.Gln794Glu		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981687	0.93044	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	H	0.96833	3.89	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	D	0.95353	0.8448	10	0.72032	D	0.01	.	18.3008	0.90163	0.0:0.0:1.0:0.0	.	801;794;801;794;801	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	E	794;794;801;801;801	ENSP00000300036:Q794E;ENSP00000345136:Q794E;ENSP00000379616:Q801E;ENSP00000407821:Q801E	ENSP00000300036:Q794E	Q	-	1	0	MYH11	15748959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.565000	0.86533	0.561000	0.74099	CAG		0.498	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		C	15841458	G	C	15841458	3	2	525	1	0	0	0	0	1	0	0	0	10033	1357	47	4	3665	4	MYH11	16	15841458	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	12973999	15841458	74513295	51	28082											
ZNF646	9726	broad.mit.edu;hgsc.bcm.edu	37	16	31089296	31089296	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr16:31089296G>A	ENST00000394979.2	+	1	2074	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N	ZNF646_ENST00000300850.5_Missense_Mutation_p.D551N			O15015	ZN646_HUMAN	zinc finger protein 646	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D551N(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCCGCACACAGATCAGGACCA	0.597																																																1	Substitution - Missense(1)	kidney(1)											49	50	50					16																	31089296		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1651G>A	16.37:g.31089296G>A	ENSP00000378429:p.Asp551Asn		Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	G	14.25	2.478060	0.44044	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.09073	3.02;3.04	5.01	5.01	0.66863	.	.	.	.	.	T	0.15912	0.0383	L	0.29908	0.895	0.45621	D	0.998553	D	0.63046	0.992	P	0.59357	0.856	T	0.02358	-1.1171	9	0.34782	T	0.22	-7.6517	17.2369	0.87001	0.0:0.0:1.0:0.0	.	551	O15015-2	.	N	551	ENSP00000300850:D551N;ENSP00000378429:D551N	ENSP00000300850:D551N	D	+	1	0	ZNF646	30996797	0.002000	0.14202	0.362000	0.25862	0.728000	0.41692	0.727000	0.25999	2.616000	0.88540	0.655000	0.94253	GAT		0.597	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		A	31089296	G	A	31089296	3	1	525	1	0	0	0	0	1	0	0	0	18067	942	33	2	1653	2	ZNF646	16	31089296	Missense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	15247838	31089296	59265457	52	28083											
ABCC11	85320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	48244895	48244895	+	Silent	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr16:48244895G>A	ENST00000394747.1	-	10	1921	c.1572C>T	c.(1570-1572)ggC>ggT	p.G524G	ABCC11_ENST00000394748.1_Silent_p.G524G|ABCC11_ENST00000356608.2_Silent_p.G524G|ABCC11_ENST00000353782.5_Silent_p.G524G|ABCC11_ENST00000537808.1_Silent_p.G524G	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	524	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.G524G(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GCAACTCTGGGCCCAGGCTGT	0.617																																																1	Substitution - coding silent(1)	kidney(1)											102	86	91					16																	48244895		2201	4300	6501	SO:0001819	synonymous_variant	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1572C>T	16.37:g.48244895G>A			Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																				0.617	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		A	48244895	G	A	48244895	2	1	525	1	0	0	0	0	0	0	0	1	51	1190	42	2		2	ABCC11	16	48244895	Silent	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	17155599	48244895	42109858	53	28084											
KIAA0182	23199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	85696693	85696693	+	Silent	SNP	C	C	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr16:85696693C>T	ENST00000253458.7	+	10	2543	c.2367C>T	c.(2365-2367)tcC>tcT	p.S789S	GSE1_ENST00000405402.2_Silent_p.S685S|GSE1_ENST00000393243.1_Silent_p.S716S	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	789								p.S789S(1)									TGGACACGTCCTCTGAGGTAC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											68	54	59					16																	85696693		2198	4300	6498	SO:0001819	synonymous_variant	0			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2367C>T	16.37:g.85696693C>T			D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246584	0.22796	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.48	3.51	0.40186	.	.	.	.	.	T	0.60248	0.2254	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57682	-0.7769	4	.	.	.	-27.6273	10.314	0.43725	0.0:0.7826:0.0:0.2174	.	.	.	.	L	596	.	.	P	+	2	0	KIAA0182	84254194	1.000000	0.71417	0.985000	0.45067	0.788000	0.44548	0.933000	0.28897	1.331000	0.45412	0.561000	0.74099	CCT		0.627	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		T	85696693	C	T	85696693	2	4	525	1	0	0	0	0	0	0	0	1	8161	668	24	2		2	KIAA0182	16	85696693	Silent	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	37451798	85696693	4658060	54	28085											
NUP88	4927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5322725	5322725	+	Silent	SNP	G	G	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr17:5322725G>T	ENST00000573584.1	-	1	755	c.246C>A	c.(244-246)cgC>cgA	p.R82R	RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	82					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R82R(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GGCCCCGAAGGCGAACGACTA	0.647																																																1	Substitution - coding silent(1)	kidney(1)											39	43	42					17																	5322725		2203	4300	6503	SO:0001819	synonymous_variant	4927			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.246C>A	17.37:g.5322725G>T			D3DTM2|Q9BWE5	Nonsense_Mutation	SNP	ENST00000573584.1	37	CCDS11070.1																																																																																				0.647	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		T	5322725	G	T	5322725	2	4	525	1	0	0	0	0	0	0	0	1	10773	1190	42	4		4	NUP88	17	5322725	Silent	SNP	G	TCGA-CJ-4902-01A-01D-1429-08		5322725	75872485	55	28086											
KRT19	3880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39680198	39680198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr17:39680198G>A	ENST00000361566.3	-	6	1060	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	KRT15_ENST00000393974.3_5'Flank|KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393976.2_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	334	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.Q334*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TGCGCCAGCTGGGCTCCAAAG	0.597																																																1	Substitution - Nonsense(1)	kidney(1)											40	41	41					17																	39680198		2203	4299	6502	SO:0001587	stop_gained	3880				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.1000C>T	17.37:g.39680198G>A	ENSP00000355124:p.Gln334*		B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Nonsense_Mutation	SNP	ENST00000361566.3	37	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072829	0.76415	.	.	ENSG00000171345	ENST00000361566	.	.	.	5.17	4.2	0.49525	.	0.154508	0.30501	N	0.009483	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.0157	0.58754	0.0:0.0:0.7072:0.2928	.	.	.	.	X	334	.	ENSP00000355124:Q334X	Q	-	1	0	KRT19	36933724	0.334000	0.24739	0.854000	0.33618	0.575000	0.36095	1.709000	0.37909	1.179000	0.42884	0.556000	0.70494	CAG		0.597	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		A	39680198	G	A	39680198	4	1	525	1	0	0	0	0	0	1	0	0	8458	1357	47	2	206	2	KRT19	17	39680198	Nonsense_Mutation	SNP	G	TCGA-CJ-4902-01A-01D-1429-08	34357473	39680198	41515012	56	28087											
FADS6	283985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72888762	72888762	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr17:72888762A>T	ENST00000310226.6	-	2	259	c.245T>A	c.(244-246)aTc>aAc	p.I82N		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	88					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)	p.I82N(1)|p.I87N(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CACACCCAAGATGGTGATGCC	0.597																																																2	Substitution - Missense(2)	kidney(2)											48	52	50					17																	72888762		2070	4203	6273	SO:0001583	missense	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.245T>A	17.37:g.72888762A>T	ENSP00000307821:p.Ile82Asn		Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712007	0.48517	.	.	ENSG00000172782	ENST00000310226	T	0.18810	2.19	5.32	5.32	0.75619	Fatty acid desaturase, type 1 (1);	0.288406	0.38326	N	0.001731	T	0.28962	0.0719	M	0.62723	1.935	0.39047	D	0.960253	B	0.31274	0.317	B	0.42030	0.373	T	0.12734	-1.0536	10	0.34782	T	0.22	-0.3632	10.1893	0.43017	0.9154:0.0:0.0846:0.0	.	88	Q8N9I5	FADS6_HUMAN	N	82	ENSP00000307821:I82N	ENSP00000307821:I82N	I	-	2	0	FADS6	70400357	1.000000	0.71417	0.082000	0.20525	0.185000	0.23345	3.308000	0.51896	2.047000	0.60756	0.524000	0.50904	ATC		0.597	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			T	72888762	A	T	72888762	3	4	525	1	0	0	0	0	1	0	0	0	5370	333	12	5	827	5	FADS6	17	72888762	Missense_Mutation	SNP	A	TCGA-CJ-4902-01A-01D-1429-08	33208564	72888762	8306448	57	28088											
SLC38A10	124565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79257257	79257257	+	Silent	SNP	C	C	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr17:79257257C>A	ENST00000374759.3	-	4	692	c.309G>T	c.(307-309)gtG>gtT	p.V103V	SLC38A10_ENST00000288439.5_Silent_p.V103V|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	103					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.V103V(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGTCGCCGATCACGACGTAGA	0.587																																																2	Substitution - coding silent(2)	kidney(2)											82	57	66					17																	79257257		2201	4298	6499	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.309G>T	17.37:g.79257257C>A			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																				0.587	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		A	79257257	C	A	79257257	2	1	525	1	0	0	0	0	0	0	0	1	14608	813	29	4		4	SLC38A10	17	79257257	Silent	SNP	C	TCGA-CJ-4902-01A-01D-1429-08	6368495	79257257	1937953	58	28089											
ALPK2	115701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	56205106	56205106	+	Silent	SNP	A	A	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr18:56205106A>T	ENST00000361673.3	-	5	2526	c.2313T>A	c.(2311-2313)ccT>ccA	p.P771P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	771						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P137P(1)|p.P771P(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGACAGCCACAGGCTCCCTGA	0.527																																																2	Substitution - coding silent(2)	kidney(2)											170	158	162					18																	56205106		2203	4300	6503	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2313T>A	18.37:g.56205106A>T			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																				0.527	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		T	56205106	A	T	56205106	2	4	525	1	0	0	0	0	0	0	0	1	545	175	7	5		5	ALPK2	18	56205106	Silent	SNP	A	TCGA-CJ-4902-01A-01D-1429-08		56205106	21872142	59	28090											
CAPN12	147968	hgsc.bcm.edu;ucsc.edu	37	19	39229287	39229288	+	Splice_Site	DEL	CT	CT	-			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr19:39229287_39229288delCT	ENST00000328867.4	-	6	1038_1039	c.730_731delAG	c.(730-732)agt>t	p.S244fs	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Splice_Site_p.S95fs	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	244	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			ACCCCGATCACTCTGGGCAGGG	0.634																																																0																																										SO:0001630	splice_region_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.730-1AG>-	19.37:g.39229289_39229290delCT				Frame_Shift_Del	DEL	ENST00000328867.4	37	CCDS12519.1																																																																																				0.634	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1		Frame_Shift_Del	-	39229288	CT	-	39229287	8	5	525	1	0	1	0	1	0	0	1	0	2627	579	20	0	1492	0	CAPN12	19	39229287	Splice_Site	DEL	CT	TCGA-CJ-4902-01A-01D-1429-08		39229287	19899696	60	28091											
FAM113A	64773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2819279	2819279	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr20:2819279A>G	ENST00000360652.2	-	5	1059	c.557T>C	c.(556-558)cTc>cCc	p.L186P	PCED1A_ENST00000356872.3_Missense_Mutation_p.L135P|VPS16_ENST00000380469.3_5'Flank|VPS16_ENST00000380445.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	186								p.L186P(1)									ACGTTCCCCGAGGGGCATCGC	0.577																																																1	Substitution - Missense(1)	kidney(1)											124	108	113					20																	2819279		2203	4300	6503	SO:0001583	missense	0			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.557T>C	20.37:g.2819279A>G	ENSP00000353868:p.Leu186Pro		Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.411689	0.42817	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	3.7	3.7	0.42460	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.350251	0.23273	N	0.049985	T	0.33673	0.0871	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.71870	0.918;0.975	T	0.06534	-1.0821	10	0.87932	D	0	-7.7576	8.9489	0.35776	1.0:0.0:0.0:0.0	.	135;186	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	P	135;186;135;186	ENSP00000349334:L135P;ENSP00000353868:L186P;ENSP00000388935:L135P;ENSP00000401711:L186P	ENSP00000349334:L135P	L	-	2	0	FAM113A	2767279	1.000000	0.71417	0.966000	0.40874	0.862000	0.49288	7.035000	0.76517	1.707000	0.51288	0.379000	0.24179	CTC		0.577	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		G	2819279	A	G	2819279	3	3	525	1	0	0	0	0	1	0	0	0	5403	304	11	3	823	3	FAM113A	20	2819279	Missense_Mutation	SNP	A	TCGA-CJ-4902-01A-01D-1429-08		2819279	60206241	61	28092											
ZNFX1	57169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47887117	47887117	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr20:47887117T>A	ENST00000396105.1	-	3	1478	c.1232A>T	c.(1231-1233)tAc>tTc	p.Y411F	ZNFX1_ENST00000371752.1_Missense_Mutation_p.Y411F|ZNFX1_ENST00000371754.4_Missense_Mutation_p.Y411F	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	411							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Y411F(2)|p.Y215F(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTGTCAAAGTAGATTCGGAT	0.443																																																3	Substitution - Missense(3)	kidney(3)											161	157	158					20																	47887117		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1232A>T	20.37:g.47887117T>A	ENSP00000379412:p.Tyr411Phe		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879549	0.72294	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.89875	-2.41;-2.58;-2.58;-1.4;-2.04	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94739	0.8302	M	0.85777	2.775	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.94777	0.7950	10	0.49607	T	0.09	-21.8294	15.0595	0.71942	0.0:0.0:0.0:1.0	.	411	Q9P2E3	ZNFX1_HUMAN	F	411;411;411;411;411;215	ENSP00000360819:Y411F;ENSP00000360817:Y411F;ENSP00000379412:Y411F;ENSP00000360809:Y411F;ENSP00000413800:Y215F	ENSP00000360809:Y411F	Y	-	2	0	ZNFX1	47320524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.936000	0.87665	2.238000	0.73509	0.533000	0.62120	TAC		0.443	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		A	47887117	T	A	47887117	3	1	525	1	0	0	0	0	1	0	0	0	18210	1638	57	5	4572	5	ZNFX1	20	47887117	Missense_Mutation	SNP	T	TCGA-CJ-4902-01A-01D-1429-08	45067838	47887117	15138403	62	28093											
PCK1	5105	broad.mit.edu;ucsc.edu	37	20	56138156	56138156	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr20:56138156T>G	ENST00000319441.4	+	5	847	c.683T>G	c.(682-684)aTc>aGc	p.I228S	PCK1_ENST00000535860.1_Missense_Mutation_p.I96S|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	228					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.I228S(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CGCAGAGAGATCATCTCCTTT	0.617																																																1	Substitution - Missense(1)	kidney(1)											77	79	78					20																	56138156		2203	4300	6503	SO:0001583	missense	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.683T>G	20.37:g.56138156T>G	ENSP00000319814:p.Ile228Ser		A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.676065	0.88445	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.09073	3.02;3.02	5.06	5.06	0.68205	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67051	-0.5768	10	0.87932	D	0	-41.4685	15.1223	0.72453	0.0:0.0:0.0:1.0	.	228	P35558	PCKGC_HUMAN	S	228;96	ENSP00000319814:I228S;ENSP00000444342:I96S	ENSP00000319814:I228S	I	+	2	0	PCK1	55571562	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.539000	0.82063	2.040000	0.60383	0.533000	0.62120	ATC		0.617	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			G	56138156	T	G	56138156	3	3	525	1	0	0	0	0	1	0	0	0	11583	1435	50	5	697	5	PCK1	20	56138156	Missense_Mutation	SNP	T	TCGA-CJ-4902-01A-01D-1429-08	8251039	56138156	6887364	63	28094											
KDELR3	11015	hgsc.bcm.edu;ucsc.edu	37	22	38877232	38877235	+	Frame_Shift_Del	DEL	TCTA	TCTA	-	rs139737165|rs573089298	byFrequency	TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	TCTA	TCTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chr22:38877232_38877235delTCTA	ENST00000216014.4	+	4	539_542	c.367_370delTCTA	c.(367-372)tctatcfs	p.SI123fs	KDELR3_ENST00000409006.3_Frame_Shift_Del_p.SI123fs|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	123					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CTGGACTTTCTCTATCTATCTGGA	0.446														3	0.000599042	0.0023	0.0	5008	,	,		17015	0.0		0.0	False		,,,				2504	0.0				Ovarian(11;103 529 24120 28493 32980)											0									,	5,4259		0,5,2127					,	5	1			175	3,8251		0,3,4124	no	frameshift,frameshift	KDELR3	NM_016657.1,NM_006855.2	,	0,8,6251	A1A1,A1R,RR		0.0363,0.1173,0.0639	,	,		8,12510				SO:0001589	frameshift_variant	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.367_370delTCTA	22.37:g.38877236_38877239delTCTA	ENSP00000216014:p.Ser123fs		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Frame_Shift_Del	DEL	ENST00000216014.4	37	CCDS13972.1																																																																																				0.446	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			-	38877235	TCTA	-	38877232	7	5	525	1	0	1	0	1	0	0	0	0	8123	1551	54	0	381	0	KDELR3	22	38877232	Frame_Shift_Del	DEL	TCTA	TCGA-CJ-4902-01A-01D-1429-08		38877232	12427334	64	28095											
ARSD	414	hgsc.bcm.edu	37	X	2835999	2836007	+	In_Frame_Del	DEL	CCACGCCGG	CCACGCCGG	-	rs113556864|rs190767292		TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	CCACGCCGG	CCACGCCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chrX:2835999_2836007delCCACGCCGG	ENST00000381154.1	-	5	776_784	c.701_709delCCGGCGTGG	c.(700-711)gccggcgtgggc>ggc	p.AGV234del	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	234					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AACAGGCAGCCCACGCCGGCCATGCCGGT	0.593																																																0										451,3270		0,2,449,1590,88						-6.3	0		dbSNP_132	32	1416,5068		2,4,1408,2351,362	no	coding	ARSD	NM_001669.3		2,6,1857,3941,450	A1A1,A1R,A1,RR,R		21.8384,12.1204,18.295				1867,8338				SO:0001651	inframe_deletion	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.701_709delCCGGCGTGG	X.37:g.2835999_2836007delCCACGCCGG	ENSP00000370546:p.Ala234_Val236del		Q9UHJ8	In_Frame_Del	DEL	ENST00000381154.1	37	CCDS35196.1																																																																																				0.593	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			-	2836007	CCACGCCGG	-	2835999	7	5	525	1	0	1	0	1	0	0	0	0	989	623	22	0	1249	0	ARSD	23	2835999	In_Frame_Del	DEL	CCACGCCGG	TCGA-CJ-4902-01A-01D-1429-08		2835999	152434561	65	28096											
ZDHHC9	51114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	128975882	128975882	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4902-01A-01D-1429-08	TCGA-CJ-4902-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3ef9ea62-85c4-4261-af23-ecb86f192cdf	fc22c32f-f803-4803-b98d-bc1a2e693144	g.chrX:128975882A>T	ENST00000357166.6	-	3	431	c.40T>A	c.(40-42)Tgg>Agg	p.W14R	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.W14R	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	14					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.W14R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						AGTTTCTCCCATTTCCGTGTC	0.502																																																1	Substitution - Missense(1)	kidney(1)											189	149	163					X																	128975882		2203	4300	6503	SO:0001583	missense	51114			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"Zinc fingers, DHHC-type"	18475	protein-coding gene	gene with protein product		300646	"zinc finger, DHHC-type containing 10", "chromosome X open reading frame 11"	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.40T>A	X.37:g.128975882A>T	ENSP00000349689:p.Trp14Arg		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473230	0.84640	.	.	ENSG00000188706	ENST00000357166;ENST00000371064;ENST00000406492	T;T;T	0.65549	0.96;0.96;-0.16	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.79475	2.455	0.80722	D	1	D	0.62365	0.991	D	0.65987	0.94	T	0.81575	-0.0870	10	0.87932	D	0	-8.905	14.7898	0.69830	1.0:0.0:0.0:0.0	.	14	Q9Y397	ZDHC9_HUMAN	R	14	ENSP00000349689:W14R;ENSP00000360103:W14R;ENSP00000383991:W14R	ENSP00000349689:W14R	W	-	1	0	ZDHHC9	128803563	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.248000	0.95456	1.954000	0.56735	0.486000	0.48141	TGG		0.502	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		T	128975882	A	T	128975882	3	4	525	1	0	0	0	0	1	0	0	0	17627	217	8	5	1090	5	ZDHHC9	23	128975882	Missense_Mutation	SNP	A	TCGA-CJ-4902-01A-01D-1429-08	126139883	128975882	26294678	66	28097											
HIVEP3	59269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	42049239	42049239	+	Silent	SNP	G	G	A	rs199930261		TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr1:42049239G>A	ENST00000372583.1	-	4	2115	c.1230C>T	c.(1228-1230)aaC>aaT	p.N410N	HIVEP3_ENST00000247584.5_Silent_p.N410N|HIVEP3_ENST00000372584.1_Silent_p.N410N|HIVEP3_ENST00000429157.2_Silent_p.N410N	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	410	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N410N(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGACTTGGCGTTGGTGTTTG	0.602																																																1	Substitution - coding silent(1)	kidney(1)						G	,	0,4406		0,0,2203	118	104	109		1230,1230	-6.9	0.6	1		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	410/2406,410/2407	42049239	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1230C>T	1.37:g.42049239G>A			A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	CCDS463.1																																																																																				0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		A	42049239	G	A	42049239	2	1	526	1	0	0	0	0	0	0	0	1	7190	1136	40	1		1	HIVEP3	1	42049239	Silent	SNP	G	TCGA-CJ-4903-01A-01D-1429-08		42049239	207201382	1	28098											
F11R	50848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160969694	160969694	+	Missense_Mutation	SNP	C	C	A	rs553706719		TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr1:160969694C>A	ENST00000368026.6	-	6	940	c.666G>T	c.(664-666)atG>atT	p.M222I	F11R_ENST00000472573.1_5'Flank|F11R_ENST00000537746.1_Missense_Mutation_p.M173I|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	222	Ig-like V-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.M222I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CATTTGAAGTCATGGGTGTCC	0.522																																																1	Substitution - Missense(1)	kidney(1)											92	86	88					1																	160969694		2203	4300	6503	SO:0001583	missense	50848			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.666G>T	1.37:g.160969694C>A	ENSP00000357005:p.Met222Ile		B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449640	0.26074	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.67345	-0.26;-0.26;-0.26	5.41	2.41	0.29592	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.875727	0.10470	N	0.670825	T	0.31979	0.0814	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.22146	0.065;0.057;0.016;0.016;0.016	B;B;B;B;B	0.23716	0.022;0.048;0.013;0.013;0.013	T	0.26121	-1.0112	10	0.42905	T	0.14	.	5.1023	0.14766	0.1654:0.659:0.0:0.1755	.	226;173;222;222;222	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	I	222;222;222;173;226	ENSP00000357005:M222I;ENSP00000440812:M173I;ENSP00000394809:M226I	ENSP00000289779:M222I	M	-	3	0	F11R	159236318	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	2.130000	0.42064	0.805000	0.34159	0.563000	0.77884	ATG		0.522	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		A	160969694	C	A	160969694	3	1	526	1	0	0	0	0	1	0	0	0	5340	826	29	4	253	4	F11R	1	160969694	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	118920455	160969694	88280927	2	28099											
URB2	9816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	229773890	229773890	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr1:229773890C>T	ENST00000258243.2	+	4	3666	c.3530C>T	c.(3529-3531)gCa>gTa	p.A1177V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1177						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.A1177V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCTTTTCAGGCAGCCTTGCAG	0.493																																																1	Substitution - Missense(1)	kidney(1)											155	156	156					1																	229773890		2203	4300	6503	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3530C>T	1.37:g.229773890C>T	ENSP00000258243:p.Ala1177Val		Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940217	0.73557	.	.	ENSG00000135763	ENST00000258243	T	0.33216	1.42	5.65	3.72	0.42706	.	0.162448	0.56097	D	0.000033	T	0.19167	0.0460	L	0.29908	0.895	0.32110	N	0.589456	P	0.45126	0.851	B	0.37550	0.253	T	0.17440	-1.0369	9	.	.	.	-13.0773	10.0615	0.42277	0.1196:0.7629:0.0:0.1175	.	1177	Q14146	URB2_HUMAN	V	1177	ENSP00000258243:A1177V	.	A	+	2	0	URB2	227840513	0.139000	0.22563	0.989000	0.46669	0.769000	0.43574	0.400000	0.20932	1.515000	0.48885	0.585000	0.79938	GCA		0.493	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		T	229773890	C	T	229773890	3	4	526	1	0	0	0	0	1	0	0	0	17030	710	25	2	3540	2	URB2	1	229773890	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	68804196	229773890	19476731	3	28100											
PCNXL2	80003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	233150461	233150461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr1:233150461G>T	ENST00000258229.9	-	28	5136	c.4902C>A	c.(4900-4902)tgC>tgA	p.C1634*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.C286*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1634						integral component of membrane (GO:0016021)		p.C1634*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCCCAGGGTGCACAGGGCGA	0.537																																																1	Substitution - Nonsense(1)	kidney(1)											93	92	92					1																	233150461		1961	4143	6104	SO:0001587	stop_gained	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4902C>A	1.37:g.233150461G>T	ENSP00000258229:p.Cys1634*		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	46	12.225042	0.99648	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	.	.	.	5.38	-0.834	0.10779	.	0.049191	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2778	0.49176	0.4229:0.0:0.5771:0.0	.	.	.	.	X	286;1634	.	ENSP00000258229:C1634X	C	-	3	2	PCNXL2	231217084	0.946000	0.32159	0.967000	0.41034	0.297000	0.27493	0.015000	0.13355	-0.456000	0.07043	-0.492000	0.04666	TGC		0.537	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		T	233150461	G	T	233150461	4	4	526	1	0	0	0	0	0	1	0	0	11594	1311	46	4	1539	4	PCNXL2	1	233150461	Nonsense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08	3376571	233150461	16100160	4	28101											
RAPGEF4	11069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	173894949	173894949	+	Silent	SNP	C	C	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr2:173894949C>T	ENST00000397081.3	+	26	2759	c.2616C>T	c.(2614-2616)aaC>aaT	p.N872N	RAPGEF4_ENST00000540783.1_Silent_p.N719N|RAPGEF4_ENST00000264111.6_Silent_p.N871N|RAPGEF4_ENST00000538974.1_Silent_p.N701N|RAPGEF4_ENST00000409036.1_Silent_p.N872N|RAPGEF4_ENST00000397087.3_Silent_p.N728N|RAPGEF4_ENST00000539331.1_Silent_p.N719N|RAPGEF4_ENST00000535187.1_Silent_p.N652N	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	872	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.N872N(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GACTAAGTAACGTTGCTGTGA	0.443																																																1	Substitution - coding silent(1)	kidney(1)											113	111	112					2																	173894949		1916	4137	6053	SO:0001819	synonymous_variant	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2616C>T	2.37:g.173894949C>T			B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	CCDS42775.1																																																																																				0.443	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		T	173894949	C	T	173894949	2	4	526	1	0	0	0	0	0	0	0	1	13052	535	19	1		1	RAPGEF4	2	173894949	Silent	SNP	C	TCGA-CJ-4903-01A-01D-1429-08		173894949	69304424	5	28102											
RBM45	129831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178990777	178990777	+	Silent	SNP	C	C	G			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr2:178990777C>G	ENST00000286070.5	+	9	1391	c.1299C>G	c.(1297-1299)gcC>gcG	p.A433A		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	435	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A433A(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CCAAGTATGCCGATAGAATAA	0.388																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											159	144	149					2																	178990777		2203	4300	6503	SO:0001819	synonymous_variant	129831			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"RNA binding motif (RRM) containing"	24468	protein-coding gene	gene with protein product	"developmentally regulated RNA binding protein 1"	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1299C>G	2.37:g.178990777C>G			Q6NYL0|Q8NFC9	Silent	SNP	ENST00000286070.5	37	CCDS33335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.068|9.068	0.996195|0.996195	0.19043|0.19043	.|.	.|.	ENSG00000155636|ENSG00000155636	ENST00000455903|ENST00000424099	.|.	.|.	.|.	5.74|5.74	-2.19|-2.19	0.07015|0.07015	.|.	.|.	.|.	.|.	.|.	T|T	0.41026|0.41026	0.1141|0.1141	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.27400|0.27400	-1.0075|-1.0075	4|4	.|.	.|.	.|.	-18.3773|-18.3773	2.3916|2.3916	0.04379|0.04379	0.2966:0.2297:0.0646:0.4091|0.2966:0.2297:0.0646:0.4091	.|.	.|.	.|.	.|.	R|G	94|32	.|.	.|.	P|R	+|+	2|1	0|2	RBM45|RBM45	178699023|178699023	0.990000|0.990000	0.36364|0.36364	0.986000|0.986000	0.45419|0.45419	0.947000|0.947000	0.59692|0.59692	0.419000|0.419000	0.21247|0.21247	-0.648000|-0.648000	0.05437|0.05437	-1.072000|-1.072000	0.02254|0.02254	CCG|CGA		0.388	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		G	178990777	C	G	178990777	2	3	526	1	0	0	0	0	0	0	0	1	13145	639	23	4		4	RBM45	2	178990777	Silent	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	5095828	178990777	64208596	6	28103											
RAPH1	65059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	204305222	204305222	+	Silent	SNP	T	T	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr2:204305222T>A	ENST00000319170.5	-	14	2990	c.2691A>T	c.(2689-2691)gcA>gcT	p.A897A	RAPH1_ENST00000374493.3_Silent_p.A949A|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	897					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.A897A(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGCTTTTACTGCAGGAGGGG	0.587																																																1	Substitution - coding silent(1)	kidney(1)											81	98	92					2																	204305222		2203	4300	6503	SO:0001819	synonymous_variant	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2691A>T	2.37:g.204305222T>A			Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	CCDS2359.1																																																																																				0.587	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		A	204305222	T	A	204305222	2	1	526	1	0	0	0	0	0	0	0	1	13056	1567	55	5		5	RAPH1	2	204305222	Silent	SNP	T	TCGA-CJ-4903-01A-01D-1429-08	25314445	204305222	38894151	7	28104											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10188309	10188309	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr3:10188309T>C	ENST00000256474.2	+	2	1292	c.452T>C	c.(451-453)aTc>aCc	p.I151T	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	151	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I151T(7)|p.I151S(6)|p.I151N(3)|p.I151>?(1)|p.?(1)|p.N150fs*7(1)|p.I151_T152del(1)|p.I151fs*8(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTTGCCAATATCACACTGCCA	0.398		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	22	Substitution - Missense(16)|Deletion - Frameshift(3)|Complex(1)|Deletion - In frame(1)|Unknown(1)	kidney(22)	GRCh37	CM994244	VHL	M							195	182	187					3																	10188309		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.452T>C	3.37:g.10188309T>C	ENSP00000256474:p.Ile151Thr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.915471	0.73098	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99876	-7.41	4.89	4.89	0.63831	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96623	0.9461	10	0.87932	D	0	0.0775	12.7607	0.57363	0.0:0.0:0.0:1.0	.	151	P40337	VHL_HUMAN	T	151;69	ENSP00000256474:I151T	ENSP00000256474:I151T	I	+	2	0	VHL	10163309	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.968000	0.70413	1.966000	0.57179	0.460000	0.39030	ATC		0.398	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10188309	T	C	10188309	3	2	526	1	0	0	0	0	1	0	0	0	17167	1435	50	3	458	3	VHL	3	10188309	Missense_Mutation	SNP	T	TCGA-CJ-4903-01A-01D-1429-08		10188309	187834121	8	28105											
WDR48	57599	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	39108073	39108073	+	Silent	SNP	A	A	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr3:39108073A>T	ENST00000302313.5	+	4	331	c.303A>T	c.(301-303)gtA>gtT	p.V101V	WDR48_ENST00000396258.3_Silent_p.V19V|WDR48_ENST00000544962.1_Intron|WDR48_ENST00000418020.1_De_novo_Start_OutOfFrame	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	101					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.V101V(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGTAAAAGTATGGAATGCAC	0.333																																																1	Substitution - coding silent(1)	kidney(1)											145	134	138					3																	39108073		2203	4300	6503	SO:0001819	synonymous_variant	57599			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.303A>T	3.37:g.39108073A>T			B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Silent	SNP	ENST00000302313.5	37	CCDS33738.1																																																																																				0.333	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		T	39108073	A	T	39108073	2	4	526	1	0	0	0	0	0	0	0	1	17306	436	16	5		5	WDR48	3	39108073	Silent	SNP	A	TCGA-CJ-4903-01A-01D-1429-08	28919764	39108073	158914357	9	28106											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643360	52643360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr3:52643360C>A	ENST00000296302.7	-	16	2537	c.2536G>T	c.(2536-2538)Gaa>Taa	p.E846*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E861*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E861*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E846*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E846*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E846*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E846*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E814*			Q86U86	PB1_HUMAN	polybromo 1	846	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E846*(2)|p.E814*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCCAATACTTCAAACATATGC	0.328			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											70	70	70					3																	52643360		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2536G>T	3.37:g.52643360C>A	ENSP00000296302:p.Glu846*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	40	8.481039	0.98829	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.08	6.08	0.98989	.	0.090804	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	814;846;846;846;846;846;861;861;846;805	.	ENSP00000296302:E846X	E	-	1	0	PBRM1	52618400	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.894000	0.99253	0.655000	0.94253	GAA		0.328	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52643360	C	A	52643360	4	1	526	1	0	0	0	0	0	1	0	0	11493	835	29	4	2424	4	PBRM1	3	52643360	Nonsense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	13535287	52643360	145379070	10	28107											
LAMP3	27074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	182871518	182871518	+	Silent	SNP	A	A	G			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr3:182871518A>G	ENST00000265598.3	-	2	966	c.711T>C	c.(709-711)tgT>tgC	p.C237C	LAMP3_ENST00000466939.1_Silent_p.C213C	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	237					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.C237C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTGCTTTTATACAGAGTCTGC	0.498																																																1	Substitution - coding silent(1)	kidney(1)											105	100	102					3																	182871518		2203	4300	6503	SO:0001819	synonymous_variant	27074			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.711T>C	3.37:g.182871518A>G			D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	CCDS3242.1																																																																																				0.498	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			G	182871518	A	G	182871518	2	3	526	1	0	0	0	0	0	0	0	1	8621	389	14	3		3	LAMP3	3	182871518	Silent	SNP	A	TCGA-CJ-4903-01A-01D-1429-08	130228158	182871518	15150912	11	28108											
D4S234E	27065	broad.mit.edu;hgsc.bcm.edu	37	4	4411393	4411393	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr4:4411393G>A	ENST00000421177.2	+	8	2331	c.340G>A	c.(340-342)Gat>Aat	p.D114N	NSG1_ENST00000506380.1_Missense_Mutation_p.D114N|NSG1_ENST00000433139.2_Missense_Mutation_p.D114N|NSG1_ENST00000504171.1_Missense_Mutation_p.D75N|NSG1_ENST00000505246.1_Missense_Mutation_p.D114N|NSG1_ENST00000513555.1_Missense_Mutation_p.D114N|NSG1_ENST00000397958.1_Missense_Mutation_p.D114N			P42857	NSG1_HUMAN		114					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.D114N(1)									CGCCTGCCCCGATGGGTTCGT	0.597																																																1	Substitution - Missense(1)	kidney(1)											136	109	118					4																	4411393		2203	4300	6503	SO:0001583	missense	0																														ENST00000421177.2:c.340G>A	4.37:g.4411393G>A	ENSP00000388823:p.Asp114Asn		B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298688	0.60195	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	3.99	3.99	0.46301	.	0.270733	0.35262	N	0.003328	T	0.49915	0.1585	L	0.39245	1.2	0.51767	D	0.99993	P;B	0.35612	0.512;0.107	B;B	0.34038	0.174;0.058	T	0.59974	-0.7353	9	0.87932	D	0	-12.5959	16.2803	0.82673	0.0:0.0:1.0:0.0	.	75;114	B4DXC5;P42857	.;NSG1_HUMAN	N	114;114;114;114;114;114;75	.	ENSP00000381049:D114N	D	+	1	0	AC110814.1	4462294	1.000000	0.71417	0.416000	0.26546	0.741000	0.42261	8.847000	0.92166	2.043000	0.60533	0.561000	0.74099	GAT		0.597	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			A	4411393	G	A	4411393	3	1	526	1	0	0	0	0	1	0	0	0	4216	1058	37	1	350	1	D4S234E	4	4411393	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08		4411393	186742883	12	28109											
SMARCA5	8467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	144465930	144465930	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr4:144465930G>A	ENST00000283131.3	+	17	2675	c.2213G>A	c.(2212-2214)aGa>aAa	p.R738K		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	738					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R738K(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AAACGAGAAAGAAAAGCCAAC	0.393																																																1	Substitution - Missense(1)	kidney(1)											155	147	150					4																	144465930		2203	4300	6503	SO:0001583	missense	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2213G>A	4.37:g.144465930G>A	ENSP00000283131:p.Arg738Lys			Missense_Mutation	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	37	6.051802	0.97236	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.93426	-3.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.96756	0.8941	H	0.95780	3.72	0.80722	D	1	P	0.45768	0.866	P	0.48089	0.566	D	0.97098	0.9795	10	0.56958	D	0.05	-8.0588	20.058	0.97661	0.0:0.0:1.0:0.0	.	738	O60264	SMCA5_HUMAN	K	738;681;681	ENSP00000283131:R738K	ENSP00000283131:R738K	R	+	2	0	SMARCA5	144685380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.763000	0.98947	2.752000	0.94435	0.655000	0.94253	AGA		0.393	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			A	144465930	G	A	144465930	3	1	526	1	0	0	0	0	1	0	0	0	14777	942	33	2	2279	2	SMARCA5	4	144465930	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08	140054537	144465930	46688346	13	28110											
TLR2	7097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	154625344	154625344	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr4:154625344C>A	ENST00000260010.6	+	1	2693	c.1285C>A	c.(1285-1287)Cct>Act	p.P429T		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	429					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.P429T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TCATTCTATGCCTGAAACTTG	0.373																																																1	Substitution - Missense(1)	kidney(1)											61	64	63					4																	154625344		2203	4300	6503	SO:0001583	missense	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1285C>A	4.37:g.154625344C>A	ENSP00000260010:p.Pro429Thr		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020835	0.35606	.	.	ENSG00000137462	ENST00000260010	T	0.59224	0.28	5.42	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	H	0.96970	3.915	0.40488	D	0.980511	P	0.35807	0.522	B	0.43701	0.428	T	0.76796	-0.2827	10	0.87932	D	0	.	9.084	0.36570	0.0:0.7778:0.0:0.2222	.	429	O60603	TLR2_HUMAN	T	429	ENSP00000260010:P429T	ENSP00000260010:P429T	P	+	1	0	TLR2	154844794	1.000000	0.71417	0.961000	0.40146	0.680000	0.39746	2.899000	0.48679	0.671000	0.31185	0.563000	0.77884	CCT		0.373	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			A	154625344	C	A	154625344	3	1	526	1	0	0	0	0	1	0	0	0	15956	739	26	4	1287	4	TLR2	4	154625344	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	10159414	154625344	36528932	14	28111											
SLC6A19	340024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	1217053	1217053	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr5:1217053T>C	ENST00000304460.10	+	8	1222	c.1166T>C	c.(1165-1167)cTc>cCc	p.L389P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	389					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.L389P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACGCCTTCCTCTCAGAGGTA	0.662																																																1	Substitution - Missense(1)	kidney(1)											104	101	102					5																	1217053		2203	4300	6503	SO:0001583	missense	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1166T>C	5.37:g.1217053T>C	ENSP00000305302:p.Leu389Pro		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.179604	0.78564	.	.	ENSG00000174358	ENST00000304460	T	0.75938	-0.98	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.89608	0.6764	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92284	0.5836	10	0.87932	D	0	.	12.982	0.58570	0.0:0.0:0.0:1.0	.	389	Q695T7	S6A19_HUMAN	P	389	ENSP00000305302:L389P	ENSP00000305302:L389P	L	+	2	0	SLC6A19	1270053	1.000000	0.71417	0.913000	0.36048	0.601000	0.36947	7.064000	0.76721	1.817000	0.53016	0.402000	0.26972	CTC		0.662	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		C	1217053	T	C	1217053	3	2	526	1	0	0	0	0	1	0	0	0	14688	1551	54	3	1196	3	SLC6A19	5	1217053	Missense_Mutation	SNP	T	TCGA-CJ-4903-01A-01D-1429-08		1217053	179698207	15	28112											
CDH18	1016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	19612594	19612594	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr5:19612594C>T	ENST00000507958.1	-	8	1750	c.760G>A	c.(760-762)Gtc>Atc	p.V254I	CDH18_ENST00000382275.1_Missense_Mutation_p.V254I|CDH18_ENST00000506372.1_Missense_Mutation_p.V254I|CDH18_ENST00000502796.1_Missense_Mutation_p.V254I|CDH18_ENST00000511273.1_Missense_Mutation_p.V254I|CDH18_ENST00000274170.4_Missense_Mutation_p.V254I			Q13634	CAD18_HUMAN	cadherin 18, type 2	254	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V254I(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTGATGTTGACTGTTGTAGAT	0.408																																																2	Substitution - Missense(2)	kidney(2)											211	189	196					5																	19612594		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.760G>A	5.37:g.19612594C>T	ENSP00000425093:p.Val254Ile		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490497	0.44249	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.95	5.95	0.96441	Cadherin (5);Cadherin-like (1);	0.061088	0.64402	D	0.000002	T	0.56572	0.1994	L	0.53671	1.685	0.41594	D	0.988816	B;B	0.19935	0.04;0.023	B;B	0.23275	0.045;0.045	T	0.50775	-0.8788	9	.	.	.	.	12.2837	0.54779	0.0:0.9225:0.0:0.0775	.	254;254	B4DHG6;Q13634	.;CAD18_HUMAN	I	254;254;254;254;254;254;200;254	ENSP00000371710:V254I;ENSP00000425093:V254I;ENSP00000274170:V254I;ENSP00000424931:V254I;ENSP00000422138:V254I;ENSP00000427383:V200I;ENSP00000425854:V254I	.	V	-	1	0	CDH18	19648351	0.999000	0.42202	0.965000	0.40720	0.474000	0.32979	3.747000	0.55134	2.817000	0.96982	0.563000	0.77884	GTC		0.408	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		T	19612594	C	T	19612594	3	4	526	1	0	0	0	0	1	0	0	0	3105	565	20	2	1644	2	CDH18	5	19612594	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	18395541	19612594	161302666	16	28113											
MAP1B	4131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	71495395	71495395	+	Silent	SNP	G	G	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr5:71495395G>A	ENST00000296755.7	+	5	6511	c.6213G>A	c.(6211-6213)aaG>aaA	p.K2071K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2071					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.K2071K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGAAAAGAAGTCCCCCTCAG	0.478																																					Melanoma(17;367 822 11631 31730 47712)											1	Substitution - coding silent(1)	kidney(1)											125	134	131					5																	71495395		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6213G>A	5.37:g.71495395G>A			A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		A	71495395	G	A	71495395	2	1	526	1	0	0	0	0	0	0	0	1	9230	1020	36	2		2	MAP1B	5	71495395	Silent	SNP	G	TCGA-CJ-4903-01A-01D-1429-08	51882801	71495395	109419865	17	28114											
PCSK1	5122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	95728885	95728885	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr5:95728885G>C	ENST00000311106.3	-	14	2319	c.2082C>G	c.(2080-2082)aaC>aaG	p.N694K	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.N647K|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	694					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.N694K(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CATAAGGGATGTTGAGCTTTG	0.458																																																1	Substitution - Missense(1)	kidney(1)											117	124	121					5																	95728885		2203	4300	6503	SO:0001583	missense	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2082C>G	5.37:g.95728885G>C	ENSP00000308024:p.Asn694Lys		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	2.553	-0.303528	0.05495	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.63744	0.09;-0.06	5.76	1.67	0.24075	.	0.601698	0.18930	N	0.127246	T	0.24431	0.0592	N	0.01352	-0.895	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32824	-0.9892	10	0.02654	T	1	-6.2452	7.5542	0.27814	0.3384:0.1199:0.5416:0.0	.	647;694	E9PHA1;P29120	.;NEC1_HUMAN	K	694;647	ENSP00000308024:N694K;ENSP00000421600:N647K	ENSP00000308024:N694K	N	-	3	2	PCSK1	95754641	0.928000	0.31464	0.556000	0.28293	0.793000	0.44817	1.425000	0.34859	0.349000	0.23975	0.655000	0.94253	AAC		0.458	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		C	95728885	G	C	95728885	3	2	526	1	0	0	0	0	1	0	0	0	11602	1368	48	4	183	4	PCSK1	5	95728885	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08	24233490	95728885	85186375	18	28115											
KLHL32	114792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	97562309	97562309	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr6:97562309G>T	ENST00000369261.4	+	7	1641	c.1278G>T	c.(1276-1278)tgG>tgT	p.W426C	KLHL32_ENST00000536676.1_Missense_Mutation_p.W390C|KLHL32_ENST00000539200.1_Missense_Mutation_p.W357C|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	426								p.W426C(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AGAACAAATGGACTTTTGTTC	0.468																																																1	Substitution - Missense(1)	kidney(1)											97	85	89					6																	97562309		2203	4300	6503	SO:0001583	missense	114792			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1278G>T	6.37:g.97562309G>T	ENSP00000358265:p.Trp426Cys		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249610	0.80024	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	D;D;D	0.96940	-4.18;-4.18;-4.18	5.65	5.65	0.86999	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	H	0.98487	4.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.99029	1.0820	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	357;390;426;426	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	C	426;390;357	ENSP00000358265:W426C;ENSP00000440382:W390C;ENSP00000441527:W357C	ENSP00000358265:W426C	W	+	3	0	KLHL32	97669030	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.229000	0.95273	2.941000	0.99782	0.655000	0.94253	TGG		0.468	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		T	97562309	G	T	97562309	3	4	526	1	0	0	0	0	1	0	0	0	8388	1183	41	4	1300	4	KLHL32	6	97562309	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08		97562309	73552758	19	28116											
SAMD9	54809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92733297	92733297	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr7:92733297A>G	ENST00000379958.2	-	3	2383	c.2114T>C	c.(2113-2115)tTt>tCt	p.F705S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	705						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.F705S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTTTTGACAAAAGGTGAAGA	0.353																																																1	Substitution - Missense(1)	kidney(1)											151	151	151					7																	92733297		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2114T>C	7.37:g.92733297A>G	ENSP00000369292:p.Phe705Ser		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307391	0.60305	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.30714	1.52;2.35	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000001	T	0.55401	0.1918	M	0.78637	2.42	0.41367	D	0.987469	D	0.89917	1.0	D	0.83275	0.996	T	0.62101	-0.6925	10	0.87932	D	0	.	12.7659	0.57391	1.0:0.0:0.0:0.0	.	705	Q5K651	SAMD9_HUMAN	S	705	ENSP00000369292:F705S;ENSP00000414529:F705S	ENSP00000369292:F705S	F	-	2	0	SAMD9	92571233	1.000000	0.71417	0.994000	0.49952	0.866000	0.49608	8.578000	0.90777	1.891000	0.54761	0.496000	0.49642	TTT		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		G	92733297	A	G	92733297	3	3	526	1	0	0	0	0	1	0	0	0	13832	14	1	3	2659	3	SAMD9	7	92733297	Missense_Mutation	SNP	A	TCGA-CJ-4903-01A-01D-1429-08		92733297	66405366	20	28117											
PLXNA4	91584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	132192713	132192713	+	Missense_Mutation	SNP	C	C	T	rs529364377		TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr7:132192713C>T	ENST00000359827.3	-	2	1702	c.740G>A	c.(739-741)gGt>gAt	p.G247D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G247D|PLXNA4_ENST00000378539.5_Missense_Mutation_p.G247D|PLXNA4_ENST00000423507.2_Missense_Mutation_p.G247D			Q9HCM2	PLXA4_HUMAN	plexin A4	247	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.G247D(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACTGCTAAAACCATAGACATA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		23320	0.0		0.001	False		,,,				2504	0.0															4	Substitution - Missense(4)	kidney(4)											92	85	87					7																	132192713		2203	4300	6503	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.740G>A	7.37:g.132192713C>T	ENSP00000352882:p.Gly247Asp		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393131	0.83011	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000004	T	0.34048	0.0884	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.994	T	0.18304	-1.0341	10	0.87932	D	0	.	19.8377	0.96663	0.0:1.0:0.0:0.0	.	247;247;247	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	D	247	ENSP00000323194:G247D;ENSP00000352882:G247D;ENSP00000392772:G247D;ENSP00000367800:G247D	ENSP00000323194:G247D	G	-	2	0	PLXNA4	131843253	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.818000	0.86416	2.711000	0.92665	0.561000	0.74099	GGT		0.483	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		T	132192713	C	T	132192713	3	4	526	1	0	0	0	0	1	0	0	0	12124	507	18	2	5382	2	PLXNA4	7	132192713	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	39459416	132192713	26945950	21	28118											
KEL	3792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	142649604	142649604	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr7:142649604G>A	ENST00000355265.2	-	10	1669	c.1195C>T	c.(1195-1197)Cca>Tca	p.P399S	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	399					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.P399S(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACCATGGGTGGTTGCTCTGTC	0.542																																																1	Substitution - Missense(1)	kidney(1)											140	119	126					7																	142649604		2203	4300	6503	SO:0001583	missense	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1195C>T	7.37:g.142649604G>A	ENSP00000347409:p.Pro399Ser		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607930	0.28623	.	.	ENSG00000197993	ENST00000355265	T	0.73469	-0.75	5.28	3.27	0.37495	Peptidase M13 (1);	0.504521	0.18493	N	0.139593	T	0.57489	0.2057	L	0.35288	1.05	0.19945	N	0.999949	P	0.43788	0.817	B	0.38880	0.284	T	0.50474	-0.8824	10	0.37606	T	0.19	-5.82	4.9231	0.13880	0.1081:0.0:0.6794:0.2124	.	399	P23276	KELL_HUMAN	S	399	ENSP00000347409:P399S	ENSP00000347409:P399S	P	-	1	0	KEL	142359726	0.519000	0.26242	0.355000	0.25773	0.979000	0.70002	2.427000	0.44740	1.403000	0.46800	0.655000	0.94253	CCA		0.542	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		A	142649604	G	A	142649604	3	1	526	1	0	0	0	0	1	0	0	0	8144	1261	44	2	1043	2	KEL	7	142649604	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08	10456891	142649604	16489059	22	28119											
CYC1	1537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145151520	145151520	+	Silent	SNP	C	C	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr8:145151520C>T	ENST00000318911.4	+	5	718	c.645C>T	c.(643-645)ctC>ctT	p.L215L	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	215			L -> F (in MC3DN6). {ECO:0000269|PubMed:23910460}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.L215L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCCTGCTCACGGGCTACT	0.602											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											99	83	88					8																	145151520		2203	4300	6503	SO:0001819	synonymous_variant	1537			BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"Mitochondrial respiratory chain complex / Complex III"	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.645C>T	8.37:g.145151520C>T		1692	Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	37	CCDS6415.1																																																																																				0.602	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		T	145151520	C	T	145151520	2	4	526	1	0	0	0	0	0	0	0	1	4137	813	29	2		2	CYC1	8	145151520	Silent	SNP	C	TCGA-CJ-4903-01A-01D-1429-08		145151520	1212502	23	28120											
PPP2R4	5524	broad.mit.edu;ucsc.edu	37	9	131909727	131909727	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr9:131909727C>A	ENST00000337738.1	+	11	1328	c.1061C>A	c.(1060-1062)cCt>cAt	p.P354H	PPP2R4_ENST00000419582.1_Missense_Mutation_p.P57H|PPP2R4_ENST00000357197.4_Missense_Mutation_p.P290H|PPP2R4_ENST00000393370.2_Missense_Mutation_p.P319H|PPP2R4_ENST00000355007.3_Missense_Mutation_p.P277H|PPP2R4_ENST00000434095.1_Missense_Mutation_p.P57H|PPP2R4_ENST00000423100.1_Missense_Mutation_p.P57H|PPP2R4_ENST00000435132.1_Missense_Mutation_p.P57H|PPP2R4_ENST00000432651.1_Missense_Mutation_p.P57H|PPP2R4_ENST00000347048.4_Missense_Mutation_p.P100H|PPP2R4_ENST00000348141.5_Missense_Mutation_p.P325H|PPP2R4_ENST00000414510.1_Missense_Mutation_p.P57H|PPP2R4_ENST00000358994.4_Missense_Mutation_p.P319H	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	354					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)	p.P354H(1)		breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CCCATCCATCCTGTCACGTCG	0.642																																					Colon(158;2158 2504 4450 20433)											1	Substitution - Missense(1)	kidney(1)											71	56	61					9																	131909727		2203	4300	6503	SO:0001583	missense	5524			X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9308	protein-coding gene	gene with protein product	"phosphotyrosyl phosphatase activator", "PP2A phosphatase activator"	600756	"protein phosphatase 2A, regulatory subunit B' (PR 53)"			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.1061C>A	9.37:g.131909727C>A	ENSP00000337448:p.Pro354His		A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	ENST00000337738.1	37		.	.	.	.	.	.	.	.	.	.	C	37	5.992493	0.97179	.	.	ENSG00000119383	ENST00000358994;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000347048;ENST00000357197;ENST00000355007;ENST00000423100;ENST00000414510;ENST00000419582;ENST00000432651;ENST00000435132;ENST00000434095	T;T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	M	0.77616	2.38	0.80722	D	1	D;P;B;B;D	0.89917	1.0;0.77;0.447;0.216;1.0	D;P;B;B;D	0.78314	0.991;0.497;0.063;0.285;0.986	T	0.63470	-0.6630	10	0.72032	D	0.01	.	17.6371	0.88125	0.0:1.0:0.0:0.0	.	290;100;277;354;319	Q15257-3;Q68CR8;Q15257-4;Q15257;Q15257-2	.;.;.;PTPA_HUMAN;.	H	319;319;354;325;100;290;277;57;57;57;57;57;57	ENSP00000351885:P319H;ENSP00000377036:P319H;ENSP00000337448:P354H;ENSP00000335200:P325H;ENSP00000337412:P100H;ENSP00000349726:P290H;ENSP00000347109:P277H;ENSP00000408316:P57H;ENSP00000408726:P57H;ENSP00000394001:P57H;ENSP00000416661:P57H;ENSP00000387726:P57H;ENSP00000411604:P57H	ENSP00000337448:P354H	P	+	2	0	PPP2R4	130949548	1.000000	0.71417	0.058000	0.19502	0.936000	0.57629	7.332000	0.79203	2.400000	0.81607	0.561000	0.74099	CCT		0.642	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131		A	131909727	C	A	131909727	3	1	526	1	0	0	0	0	1	0	0	0	12396	681	24	4	1103	4	PPP2R4	9	131909727	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08		131909727	9303704	24	28121											
ABI1	10006	broad.mit.edu	37	10	27054165	27054165	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr10:27054165G>T	ENST00000376142.2	-	7	873	c.802C>A	c.(802-804)Cca>Aca	p.P268T	ABI1_ENST00000355394.4_Missense_Mutation_p.P269T|ABI1_ENST00000536334.1_Missense_Mutation_p.P269T|ABI1_ENST00000490841.2_Missense_Mutation_p.P204T|ABI1_ENST00000346832.5_Missense_Mutation_p.P285T|ABI1_ENST00000376166.1_Missense_Mutation_p.P263T|ABI1_ENST00000376137.4_Missense_Mutation_p.P269T|ABI1_ENST00000376140.3_Missense_Mutation_p.P268T|ABI1_ENST00000359188.4_Missense_Mutation_p.P268T|ABI1_ENST00000376138.3_Missense_Mutation_p.P268T|ABI1_ENST00000376139.2_Missense_Mutation_p.P263T|ABI1_ENST00000376160.1_Missense_Mutation_p.P263T|ABI1_ENST00000376170.4_Missense_Mutation_p.P268T|ABI1_ENST00000376134.3_Missense_Mutation_p.P269T	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	268	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)	p.P268T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATAGTGGGTGGCGAAGGTGTA	0.363																																																1	Substitution - Missense(1)	kidney(1)											65	62	63					10																	27054165		2203	4300	6503	SO:0001583	missense	10006			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"spectrin SH3 domain binding protein 1"	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.802C>A	10.37:g.27054165G>T	ENSP00000365312:p.Pro268Thr		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872929	0.72180	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	1.12;1.14;1.11;1.05;1.03;1.03;1.02;1.13;1.1;0.92;1.11;1.08;1.05;1.04	5.7	5.7	0.88788	.	0.276343	0.41938	D	0.000793	T	0.59582	0.2204	L	0.52011	1.625	0.48288	D	0.999622	D;B;P;D;P;P;B;P;P;B;D;P;P	0.69078	0.958;0.016;0.945;0.997;0.658;0.875;0.361;0.813;0.859;0.411;0.958;0.796;0.658	B;B;P;D;B;P;B;P;P;P;P;P;B	0.66979	0.395;0.015;0.468;0.948;0.358;0.69;0.118;0.76;0.479;0.475;0.783;0.691;0.394	T	0.52472	-0.8571	10	0.35671	T	0.21	-8.2215	19.8201	0.96590	0.0:0.0:1.0:0.0	.	268;268;204;263;134;263;293;268;285;268;263;268;268	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	T	268;268;263;263;268;268;263;269;285;269;269;269;204;268	ENSP00000365308:P268T;ENSP00000365340:P268T;ENSP00000365336:P263T;ENSP00000365330:P263T;ENSP00000365312:P268T;ENSP00000352114:P268T;ENSP00000365309:P263T;ENSP00000347555:P269T;ENSP00000279599:P285T;ENSP00000365304:P269T;ENSP00000365307:P269T;ENSP00000439646:P269T;ENSP00000440101:P204T;ENSP00000365310:P268T	ENSP00000279599:P285T	P	-	1	0	ABI1	27094171	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.840000	0.62817	2.693000	0.91896	0.563000	0.77884	CCA		0.363	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470		T	27054165	G	T	27054165	3	4	526	1	0	0	0	0	1	0	0	0	88	1203	42	4	748	4	ABI1	10	27054165	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08		27054165	108480582	25	28122											
NRG3	10718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	84744979	84744979	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr10:84744979G>A	ENST00000404547.1	+	10	1781	c.1781G>A	c.(1780-1782)aGg>aAg	p.R594K	NRG3_ENST00000404576.2_Missense_Mutation_p.R374K|NRG3_ENST00000372142.2_Missense_Mutation_p.R373K|NRG3_ENST00000537893.1_Missense_Mutation_p.R220K|NRG3_ENST00000545131.1_Missense_Mutation_p.R220K|NRG3_ENST00000556918.1_Missense_Mutation_p.R400K|NRG3_ENST00000372141.2_Missense_Mutation_p.R570K			P56975	NRG3_HUMAN	neuregulin 3	594					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R373M(1)|p.R570M(1)|p.R570K(1)|p.R373K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCATCCACAAGGGCCAGTTCT	0.443																																																4	Substitution - Missense(4)	lung(2)|kidney(2)											129	140	136					10																	84744979		2203	4300	6503	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1781G>A	10.37:g.84744979G>A	ENSP00000384796:p.Arg594Lys		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032634	0.75504	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54279	1.19;0.97;1.01;0.58;1.16;0.65;0.65	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	L	0.58101	1.795	0.52501	D	0.999958	D;D;D;D	0.69078	0.99;0.997;0.996;0.99	D;D;D;D	0.77557	0.979;0.99;0.987;0.979	T	0.66709	-0.5855	10	0.44086	T	0.13	-10.4837	17.8962	0.88888	0.0:0.0:1.0:0.0	.	569;594;373;570	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	K	570;594;569;373;374;400;220;220	ENSP00000361214:R570K;ENSP00000384796:R594K;ENSP00000361215:R373K;ENSP00000385804:R374K;ENSP00000451376:R400K;ENSP00000441201:R220K;ENSP00000440377:R220K	ENSP00000361214:R570K	R	+	2	0	NRG3	84734959	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	6.668000	0.74457	2.827000	0.97445	0.650000	0.86243	AGG		0.443	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		A	84744979	G	A	84744979	3	1	526	1	0	0	0	0	1	0	0	0	10651	1000	35	2	1987	2	NRG3	10	84744979	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08	57690814	84744979	50789768	26	28123											
MKI67	4288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129906582	129906582	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr10:129906582C>A	ENST00000368654.3	-	13	3897	c.3522G>T	c.(3520-3522)atG>atT	p.M1174I	MKI67_ENST00000368653.3_Missense_Mutation_p.M814I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1174	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.M1174I(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGGCGTAAGCATGGCTTTCC	0.473																																																1	Substitution - Missense(1)	kidney(1)											305	290	295					10																	129906582		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3522G>T	10.37:g.129906582C>A	ENSP00000357643:p.Met1174Ile		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	6.238	0.412046	0.11812	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	2.74	-4.75	0.03239	.	2.038790	0.02651	N	0.106475	T	0.02533	0.0077	L	0.48642	1.525	0.09310	N	1	B;B;B	0.30563	0.035;0.098;0.285	B;B;B	0.28916	0.017;0.075;0.096	T	0.38628	-0.9652	10	0.31617	T	0.26	.	4.9083	0.13809	0.1649:0.213:0.0:0.6221	.	1173;814;1174	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	I	1174;814;1173	ENSP00000357643:M1174I;ENSP00000357642:M814I	ENSP00000357642:M814I	M	-	3	0	MKI67	129796572	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	1.464000	0.35288	-1.215000	0.02610	-0.379000	0.06801	ATG		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129906582	C	A	129906582	3	1	526	1	0	0	0	0	1	0	0	0	9600	710	25	4	6260	4	MKI67	10	129906582	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	45161603	129906582	5628165	27	28124											
FAM160A2	84067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6233079	6233079	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr11:6233079G>A	ENST00000449352.2	-	12	2839	c.2576C>T	c.(2575-2577)tCc>tTc	p.S859F	FAM160A2_ENST00000265978.4_Missense_Mutation_p.S873F|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	859					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.S873F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCCCCCAAGGATGGCCTCCG	0.617																																																1	Substitution - Missense(1)	kidney(1)											92	100	97					11																	6233079		2201	4294	6495	SO:0001583	missense	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2576C>T	11.37:g.6233079G>A	ENSP00000416918:p.Ser859Phe		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437489	0.43224	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.10382	2.88;2.88	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.01557	-1.1325	10	0.66056	D	0.02	-8.0878	17.4915	0.87705	0.0:0.0:1.0:0.0	.	859;873	Q8N612;Q8N612-2	F16A2_HUMAN;.	F	859;873	ENSP00000416918:S859F;ENSP00000265978:S873F	ENSP00000265978:S873F	S	-	2	0	FAM160A2	6189655	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.945000	0.92985	2.468000	0.83385	0.650000	0.86243	TCC		0.617	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		A	6233079	G	A	6233079	3	1	526	1	0	0	0	0	1	0	0	0	5471	1174	41	2	346	2	FAM160A2	11	6233079	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08		6233079	128773437	28	28125											
NAV2	89797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	19735259	19735259	+	Silent	SNP	C	C	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr11:19735259C>A	ENST00000396087.3	+	1	117	c.18C>A	c.(16-18)gtC>gtA	p.V6V	NAV2_ENST00000360655.4_Intron|RP11-359E10.1_ENST00000603468.1_lincRNA|NAV2_ENST00000349880.4_Silent_p.V6V|NAV2_ENST00000396085.1_Silent_p.V6V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	6					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.V6V(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCATCCTGGTCGCCTCCAAAA	0.716																																																1	Substitution - coding silent(1)	kidney(1)											23	25	24					11																	19735259		2199	4291	6490	SO:0001819	synonymous_variant	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.18C>A	11.37:g.19735259C>A			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.716	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		A	19735259	C	A	19735259	2	1	526	1	0	0	0	0	0	0	0	1	10186	871	31	4		4	NAV2	11	19735259	Silent	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	13502180	19735259	115271257	29	28126											
AMBRA1	55626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46563577	46563577	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr11:46563577A>G	ENST00000458649.2	-	7	2408	c.1990T>C	c.(1990-1992)Tcc>Ccc	p.S664P	AMBRA1_ENST00000528950.1_Missense_Mutation_p.S664P|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S664P|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S664P|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S574P|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S664P|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S574P			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	664					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)		p.S664P(1)|p.S574P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GATCTGCTGGACTGGGTGTAA	0.552																																																2	Substitution - Missense(2)	kidney(2)											97	89	92					11																	46563577		2201	4299	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1990T>C	11.37:g.46563577A>G	ENSP00000415327:p.Ser664Pro		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	A	8.336	0.827695	0.16749	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	D;T;D;T;D;D;T	0.90504	-2.68;-0.73;-2.68;-0.47;-2.68;-2.68;-0.47	5.79	2.02	0.26589	.	0.213506	0.50627	D	0.000111	T	0.75398	0.3844	N	0.04508	-0.205	0.43617	D	0.995992	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.002;0.002;0.001;0.001;0.001	T	0.66571	-0.5890	10	0.37606	T	0.19	.	6.3951	0.21609	0.6193:0.2531:0.1276:0.0	.	664;664;664;574;574;574	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	P	574;574;664;664;664;574;664;664	ENSP00000318313:S574P;ENSP00000433372:S574P;ENSP00000431926:S664P;ENSP00000410899:S664P;ENSP00000298834:S664P;ENSP00000415327:S664P;ENSP00000433945:S664P	ENSP00000298834:S664P	S	-	1	0	AMBRA1	46520153	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.298000	0.33412	0.993000	0.38866	0.533000	0.62120	TCC		0.552	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		G	46563577	A	G	46563577	3	3	526	1	0	0	0	0	1	0	0	0	565	275	10	3	1954	3	AMBRA1	11	46563577	Missense_Mutation	SNP	A	TCGA-CJ-4903-01A-01D-1429-08	26828318	46563577	88442939	30	28127											
FAT3	120114	hgsc.bcm.edu;ucsc.edu	37	11	92257814	92257814	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr11:92257814G>A	ENST00000298047.6	+	2	3324	c.3307G>A	c.(3307-3309)Gca>Aca	p.A1103T	FAT3_ENST00000409404.2_Missense_Mutation_p.A1103T|FAT3_ENST00000541502.1_Missense_Mutation_p.A1103T|FAT3_ENST00000525166.1_Missense_Mutation_p.A953T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1103	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1103T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATCACTGCCGCAGACATTCT	0.438										TCGA Ovarian(4;0.039)																																						2	Substitution - Missense(2)	kidney(2)											72	68	70					11																	92257814		1953	4150	6103	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3307G>A	11.37:g.92257814G>A	ENSP00000298047:p.Ala1103Thr		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	13.88	2.369405	0.42003	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.48522	4.65;4.65;0.81;4.65	5.68	5.68	0.88126	.	.	.	.	.	T	0.37320	0.0999	L	0.37630	1.12	0.42996	D	0.994509	P	0.35307	0.494	B	0.27796	0.083	T	0.18335	-1.0340	9	0.14656	T	0.56	.	19.7917	0.96461	0.0:0.0:1.0:0.0	.	1103	Q8TDW7-3	.	T	1103;1103;1103;953	ENSP00000298047:A1103T;ENSP00000387040:A1103T;ENSP00000443786:A1103T;ENSP00000432586:A953T	ENSP00000298047:A1103T	A	+	1	0	FAT3	91897462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.177000	0.58276	2.685000	0.91497	0.650000	0.86243	GCA		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92257814	G	A	92257814	3	1	526	1	0	0	0	0	1	0	0	0	5693	1087	38	1	3313	1	FAT3	11	92257814	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08	45694237	92257814	42748702	31	28128											
C1QTNF9	338872	broad.mit.edu;hgsc.bcm.edu	37	13	24893010	24893010	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr13:24893010G>T	ENST00000382071.2	+	3	306	c.221G>T	c.(220-222)gGa>gTa	p.G74V	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G74V|C1QTNF9-AS1_ENST00000449656.1_RNA|RP11-307N16.6_ENST00000382141.4_3'UTR			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	74	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.G74V(1)		endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGAGAGAAGGGAGAACGAGGT	0.453																																																1	Substitution - Missense(1)	kidney(1)											156	154	154					13																	24893010		2203	4298	6501	SO:0001583	missense	338872			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.221G>T	13.37:g.24893010G>T	ENSP00000371503:p.Gly74Val		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	g	13.91	2.377102	0.42105	.	.	ENSG00000240654	ENST00000382071;ENST00000332018;ENST00000382066	D;D	0.99637	-6.29;-6.29	3.59	3.59	0.41128	.	0.000000	0.85682	D	0.000000	D	0.99746	0.9899	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96890	0.9652	10	0.87932	D	0	.	14.7045	0.69179	0.0:0.0:1.0:0.0	.	74	P0C862	C1T9A_HUMAN	V	74	ENSP00000371503:G74V;ENSP00000333737:G74V	ENSP00000333737:G74V	G	+	2	0	C1QTNF9	23791010	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	6.319000	0.72871	1.982000	0.57802	0.603000	0.83216	GGA		0.453	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		T	24893010	G	T	24893010	3	4	526	1	0	0	0	0	1	0	0	0	1972	1174	41	4	227	4	C1QTNF9	13	24893010	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08		24893010	90276868	32	28129											
PDS5B	23047	hgsc.bcm.edu;ucsc.edu	37	13	33232396	33232396	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr13:33232396delA	ENST00000315596.10	+	4	519	c.333delA	c.(331-333)acafs	p.T111fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	111					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TGTTTATAACAAGACAGTTGA	0.299																																																0													50	46	47					13																	33232396		1786	4052	5838	SO:0001589	frameshift_variant	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.333delA	13.37:g.33232396delA	ENSP00000313851:p.Thr111fs		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Del	DEL	ENST00000315596.10	37	CCDS41878.1																																																																																				0.299	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		-	33232396	A	-	33232396	7	5	526	1	0	1	0	1	0	0	0	0	11694	117	5	0	343	0	PDS5B	13	33232396	Frame_Shift_Del	DEL	A	TCGA-CJ-4903-01A-01D-1429-08	8339386	33232396	81937482	33	28130											
CTSG	1511	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	25043508	25043508	+	Silent	SNP	G	G	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr14:25043508G>A	ENST00000216336.2	-	4	573	c.537C>T	c.(535-537)taC>taT	p.Y179Y		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Y179Y(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTCGGGGGTCGTAGGAACCGA	0.627																																																1	Substitution - coding silent(1)	kidney(1)											91	76	81					14																	25043508		2203	4300	6503	SO:0001819	synonymous_variant	1511			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.537C>T	14.37:g.25043508G>A			Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	CCDS9631.1																																																																																				0.627	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		A	25043508	G	A	25043508	2	1	526	1	0	0	0	0	0	0	0	1	4037	1140	40	1		1	CTSG	14	25043508	Silent	SNP	G	TCGA-CJ-4903-01A-01D-1429-08		25043508	82306032	34	28131											
AKAP6	9472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	33293956	33293956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr14:33293956C>T	ENST00000280979.4	+	13	7107	c.6937C>T	c.(6937-6939)Cga>Tga	p.R2313*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2313					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.R2313*(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCATGAAAAACGACATAGAAA	0.418																																					Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - Nonsense(1)	kidney(1)											65	69	68					14																	33293956		2146	4281	6427	SO:0001587	stop_gained	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6937C>T	14.37:g.33293956C>T	ENSP00000280979:p.Arg2313*		A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	46	12.390023	0.99663	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.45	4.56	0.56223	.	0.549985	0.16265	N	0.222066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.1872	9.2416	0.37500	0.2078:0.6604:0.1318:0.0	.	.	.	.	X	2313	.	ENSP00000280979:R2313X	R	+	1	2	AKAP6	32363707	0.981000	0.34729	0.640000	0.29408	0.702000	0.40608	0.920000	0.28705	1.290000	0.44636	0.467000	0.42956	CGA		0.418	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		T	33293956	C	T	33293956	4	4	526	1	0	0	0	0	0	1	0	0	455	528	19	1	6983	1	AKAP6	14	33293956	Nonsense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	8250448	33293956	74055584	35	28132											
NRXN3	9369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	79434650	79434650	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr14:79434650G>C	ENST00000554719.1	+	11	2475	c.1984G>C	c.(1984-1986)Gct>Cct	p.A662P	NRXN3_ENST00000335750.5_Missense_Mutation_p.A662P	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.A662P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CATCAATGATGCTCTTCATCG	0.512																																																1	Substitution - Missense(1)	kidney(1)											137	115	123					14																	79434650		2203	4300	6503	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1984G>C	14.37:g.79434650G>C	ENSP00000451648:p.Ala662Pro		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733053	0.89482	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.80909	-1.43;-1.43	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.90487	0.7020	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.91635	0.999;0.882	D	0.88843	0.3314	8	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1035;662	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	P	1035;1024;662;662	ENSP00000451648:A662P;ENSP00000338349:A662P	.	A	+	1	0	NRXN3	78504403	1.000000	0.71417	0.999000	0.59377	0.399000	0.30720	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.512	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		C	79434650	G	C	79434650	3	2	526	1	0	0	0	0	1	0	0	0	10669	1319	46	4	2018	4	NRXN3	14	79434650	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08	46140694	79434650	27914890	36	28133											
CYP46A1	10858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	100191787	100191787	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr14:100191787C>A	ENST00000261835.3	+	13	1340	c.1236C>A	c.(1234-1236)aaC>aaA	p.N412K	CYP46A1_ENST00000423126.2_Missense_Mutation_p.N315K|CYP46A1_ENST00000554176.1_Missense_Mutation_p.N249K	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	412					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.N412K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGACTTTCAACCCCGATCGCT	0.607																																																1	Substitution - Missense(1)	kidney(1)											102	90	94					14																	100191787		2203	4300	6503	SO:0001583	missense	10858			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1236C>A	14.37:g.100191787C>A	ENSP00000261835:p.Asn412Lys		B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.98|18.98	3.738031|3.738031	0.69304|0.69304	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176|ENST00000380228	T;T;T|.	0.68624|.	-0.34;-0.27;-0.27|.	4.48|4.48	3.56|3.56	0.40772|0.40772	.|.	0.110477|.	0.64402|.	D|.	0.000014|.	T|T	0.34337|0.34337	0.0894|0.0894	N|N	0.11064|0.11064	0.09|0.09	0.46654|0.46654	D|D	0.999147|0.999147	P;P|.	0.47191|.	0.891;0.757|.	P;P|.	0.52627|.	0.704;0.519|.	T|T	0.09574|0.09574	-1.0668|-1.0668	10|5	0.45353|.	T|.	0.12|.	.|.	9.0371|9.0371	0.36293|0.36293	0.0:0.8891:0.0:0.1109|0.0:0.8891:0.0:0.1109	.|.	249;412|.	Q8N2B0;Q9Y6A2|.	.;CP46A_HUMAN|.	K|T	412;315;249|399	ENSP00000261835:N412K;ENSP00000405779:N315K;ENSP00000450553:N249K|.	ENSP00000261835:N412K|.	N|P	+|+	3|1	2|0	CYP46A1|CYP46A1	99261540|99261540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.337000|1.337000	0.33862|0.33862	2.218000|2.218000	0.71995|0.71995	0.563000|0.563000	0.77884|0.77884	AAC|CCC		0.607	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			A	100191787	C	A	100191787	3	1	526	1	0	0	0	0	1	0	0	0	4184	506	18	4	1286	4	CYP46A1	14	100191787	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	20757137	100191787	7157753	37	28134											
VPS13C	54832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	62257054	62257055	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr15:62257054_62257055delAG	ENST00000261517.5	-	31	3130_3131	c.3057_3058delCT	c.(3055-3060)gcctttfs	p.F1020fs	VPS13C_ENST00000395898.3_Frame_Shift_Del_p.F977fs|VPS13C_ENST00000249837.3_Frame_Shift_Del_p.F977fs|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.F1020fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGATGAAAAGGCCACCTAAA	0.376																																																0																																										SO:0001589	frameshift_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3057_3058delCT	15.37:g.62257054_62257055delAG	ENSP00000261517:p.Phe1020fs			Frame_Shift_Del	DEL	ENST00000261517.5	37	CCDS32257.1																																																																																				0.376	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		-	62257055	AG	-	62257054	7	5	526	1	0	1	0	1	0	0	0	0	17196	72	3	0	8451	0	VPS13C	15	62257054	Frame_Shift_Del	DEL	AG	TCGA-CJ-4903-01A-01D-1429-08		62257054	40274338	38	28135											
EDC3	80153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	74925269	74925269	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr15:74925269A>T	ENST00000315127.4	-	7	1392	c.1211T>A	c.(1210-1212)gTg>gAg	p.V404E	EDC3_ENST00000426797.3_Missense_Mutation_p.V404E|EDC3_ENST00000568176.1_Missense_Mutation_p.V404E	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	404	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)	p.V404E(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GACCAGGTCCACAGGGCTAGT	0.602											OREG0023286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											61	43	49					15																	74925269		2197	4296	6493	SO:0001583	missense	80153			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"yjeF domain containing (E.coli)", "LSM16 homolog (EDC3, S. cerevisiae)", "enhancer of mRNA decapping 3 homolog (S. cerevisiae)"	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.1211T>A	15.37:g.74925269A>T	ENSP00000320503:p.Val404Glu	1156	B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	ENST00000315127.4	37	CCDS10267.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725862	0.89298	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	T;T	0.45668	0.89;0.89	5.6	5.6	0.85130	YjeF-related protein, N-terminal (4);	0.053470	0.85682	D	0.000000	T	0.65354	0.2683	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68496	-0.5393	10	0.59425	D	0.04	-7.0734	15.7774	0.78232	1.0:0.0:0.0:0.0	.	404	Q96F86	EDC3_HUMAN	E	404	ENSP00000320503:V404E;ENSP00000401343:V404E	ENSP00000320503:V404E	V	-	2	0	EDC3	72712322	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.794000	0.91867	2.135000	0.66039	0.459000	0.35465	GTG		0.602	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083		T	74925269	A	T	74925269	3	4	526	1	0	0	0	0	1	0	0	0	4909	159	6	5	319	5	EDC3	15	74925269	Missense_Mutation	SNP	A	TCGA-CJ-4903-01A-01D-1429-08	12668215	74925269	27606123	39	28136											
BNC1	646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	83933213	83933213	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr15:83933213A>G	ENST00000345382.2	-	4	875	c.790T>C	c.(790-792)Tat>Cat	p.Y264H	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.Y257H	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	264					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y264H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TCCAACATATATTGTTCGGGC	0.498																																																1	Substitution - Missense(1)	kidney(1)											83	82	82					15																	83933213		2203	4300	6503	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.790T>C	15.37:g.83933213A>G	ENSP00000307041:p.Tyr264His		Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	A	5.301	0.241001	0.10077	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.03272	3.99	5.23	2.85	0.33270	.	0.630970	0.16849	N	0.197006	T	0.02688	0.0081	L	0.33137	0.985	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.46386	-0.9195	10	0.15499	T	0.54	-9.3412	4.0817	0.09929	0.6411:0.2176:0.1413:0.0	.	257;264	F5GY04;Q01954	.;BNC1_HUMAN	H	264;257	ENSP00000307041:Y264H	ENSP00000307041:Y264H	Y	-	1	0	BNC1	81724217	0.469000	0.25846	0.026000	0.17262	0.965000	0.64279	1.807000	0.38902	0.985000	0.38656	0.533000	0.62120	TAT		0.498	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		G	83933213	A	G	83933213	3	3	526	1	0	0	0	0	1	0	0	0	1474	449	16	3	2202	3	BNC1	15	83933213	Missense_Mutation	SNP	A	TCGA-CJ-4903-01A-01D-1429-08	9007944	83933213	18598179	40	28137											
OR1G1	8390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3030489	3030489	+	Silent	SNP	G	G	A			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr17:3030489G>A	ENST00000328890.2	-	1	386	c.357C>T	c.(355-357)gcC>gcT	p.A119A		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	119					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A119A(1)		kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						AGCAGTCATAGGCCATGACCG	0.488																																					Colon(127;1481 1654 8243 19426 50557)											1	Substitution - coding silent(1)	kidney(1)											84	77	79					17																	3030489		2203	4300	6503	SO:0001819	synonymous_variant	8390			U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.357C>T	17.37:g.3030489G>A			Q4VBM1|Q6IFL9|Q9UM76	Silent	SNP	ENST00000328890.2	37	CCDS11020.1																																																																																				0.488	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			A	3030489	G	A	3030489	2	1	526	1	0	0	0	0	0	0	0	1	10959	987	35	2		2	OR1G1	17	3030489	Silent	SNP	G	TCGA-CJ-4903-01A-01D-1429-08		3030489	78164721	41	28138											
P2RX1	5023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3819428	3819428	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr17:3819428A>G	ENST00000225538.3	-	1	366	c.92T>C	c.(91-93)gTt>gCt	p.V31A		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	31					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.V31A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TCGGAAGATAACGCCCACCTT	0.657																																																1	Substitution - Missense(1)	kidney(1)											110	97	101					17																	3819428		2203	4300	6503	SO:0001583	missense	5023			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.92T>C	17.37:g.3819428A>G	ENSP00000225538:p.Val31Ala		Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695140	0.48202	.	.	ENSG00000108405	ENST00000225538	T	0.04970	3.52	4.7	4.7	0.59300	.	0.436617	0.22084	N	0.064850	T	0.07503	0.0189	L	0.38175	1.15	0.30126	N	0.80527	B	0.24483	0.104	B	0.29942	0.109	T	0.06991	-1.0796	10	0.33940	T	0.23	-10.4028	13.3006	0.60324	1.0:0.0:0.0:0.0	.	31	P51575	P2RX1_HUMAN	A	31	ENSP00000225538:V31A	ENSP00000225538:V31A	V	-	2	0	P2RX1	3766177	0.985000	0.35326	0.133000	0.22050	0.438000	0.31896	8.166000	0.89665	1.883000	0.54544	0.402000	0.26972	GTT		0.657	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		G	3819428	A	G	3819428	3	3	526	1	0	0	0	0	1	0	0	0	11341	43	2	3	1155	3	P2RX1	17	3819428	Missense_Mutation	SNP	A	TCGA-CJ-4903-01A-01D-1429-08	788939	3819428	77375782	42	28139											
MFSD6L	162387	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8702126	8702126	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr17:8702126C>T	ENST00000329805.4	-	1	541	c.313G>A	c.(313-315)Gtg>Atg	p.V105M		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	105						integral component of membrane (GO:0016021)		p.V105M(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GGGAAGTGCACCCGATTTTTG	0.617																																																1	Substitution - Missense(1)	kidney(1)											69	75	73					17																	8702126		2203	4300	6503	SO:0001583	missense	162387			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.313G>A	17.37:g.8702126C>T	ENSP00000330051:p.Val105Met		Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	8.194	0.796591	0.16327	.	.	ENSG00000185156	ENST00000329805	T	0.54479	0.57	4.17	-0.594	0.11664	.	3.247110	0.01429	N	0.014663	T	0.47469	0.1447	L	0.47716	1.5	0.09310	N	1	B	0.19073	0.033	B	0.21151	0.033	T	0.29610	-1.0006	10	0.39692	T	0.17	-6.324	7.8793	0.29612	0.232:0.6429:0.0:0.1251	.	105	Q8IWD5	MFS6L_HUMAN	M	105	ENSP00000330051:V105M	ENSP00000330051:V105M	V	-	1	0	MFSD6L	8642851	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.051000	0.14141	-0.150000	0.11195	-2.983000	0.00079	GTG		0.617	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		T	8702126	C	T	8702126	3	4	526	1	0	0	0	0	1	0	0	0	9538	507	18	2	1451	2	MFSD6L	17	8702126	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	4882698	8702126	72493084	43	28140											
PLEKHH3	79990	broad.mit.edu	37	17	40820279	40820279	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr17:40820279G>T	ENST00000591022.1	-	13	2635	c.2248C>A	c.(2248-2250)Ccc>Acc	p.P750T	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.P747T|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.P573T|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	750	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)		p.P750T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCGGGGGAGGGGTTGGCCAAG	0.627																																																1	Substitution - Missense(1)	kidney(1)											36	42	40					17																	40820279		2203	4300	6503	SO:0001583	missense	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.2248C>A	17.37:g.40820279G>T	ENSP00000468678:p.Pro750Thr		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188930	0.57909	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	D	0.87179	-2.22	4.61	2.59	0.31030	FERM domain (1);	0.155671	0.30473	N	0.009557	T	0.73273	0.3566	N	0.22421	0.69	0.22737	N	0.998793	B	0.10296	0.003	B	0.06405	0.002	T	0.55347	-0.8155	10	0.21540	T	0.41	-19.6066	5.0908	0.14708	0.1051:0.0:0.6871:0.2078	.	750	Q7Z736	PKHH3_HUMAN	T	750;573	ENSP00000411885:P573T	ENSP00000293349:P750T	P	-	1	0	PLEKHH3	38073805	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	2.407000	0.44565	1.273000	0.44346	0.555000	0.69702	CCC		0.627	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		T	40820279	G	T	40820279	3	4	526	1	0	0	0	0	1	0	0	0	12080	1232	43	4	137	4	PLEKHH3	17	40820279	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08	32118153	40820279	40374931	44	28141											
VPS25	84313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40925522	40925522	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr17:40925522A>G	ENST00000253794.2	+	1	69	c.29A>G	c.(28-30)cAg>cGg	p.Q10R		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	10					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.Q10R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGGCCGTGGCAGTATCGCTTC	0.632																																																1	Substitution - Missense(1)	kidney(1)											176	149	158					17																	40925522		2203	4300	6503	SO:0001583	missense	84313			AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"vacuolar protein sorting 25 (yeast)"			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.29A>G	17.37:g.40925522A>G	ENSP00000253794:p.Gln10Arg		B2R581	Missense_Mutation	SNP	ENST00000253794.2	37	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.032827	0.93575	.	.	ENSG00000131475	ENST00000253794	T	0.42131	0.98	5.04	5.04	0.67666	ESCRT-II complex, Vps25 subunit, N-terminal winged helix (1);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.84846	2.72	0.80722	D	1	D	0.69078	0.997	D	0.65443	0.935	T	0.65981	-0.6036	10	0.25106	T	0.35	-16.5249	14.4533	0.67399	1.0:0.0:0.0:0.0	.	10	Q9BRG1	VPS25_HUMAN	R	10	ENSP00000253794:Q10R	ENSP00000253794:Q10R	Q	+	2	0	VPS25	38179048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.602000	0.90868	1.898000	0.54952	0.459000	0.35465	CAG		0.632	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		G	40925522	A	G	40925522	3	3	526	1	0	0	0	0	1	0	0	0	17201	188	7	3	31	3	VPS25	17	40925522	Missense_Mutation	SNP	A	TCGA-CJ-4903-01A-01D-1429-08	105243	40925522	40269688	45	28142											
OR4D1	26689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56233390	56233390	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr17:56233390G>T	ENST00000268912.5	+	1	897	c.876G>T	c.(874-876)caG>caT	p.Q292H		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	292					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)	p.Q292H(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGAGAAACCAGGACATGAAAG	0.463																																																1	Substitution - Missense(1)	kidney(1)											45	46	46					17																	56233390		2194	4296	6490	SO:0001583	missense	26689			X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"GPCR / Class A : Olfactory receptors"	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.876G>T	17.37:g.56233390G>T	ENSP00000365451:p.Gln292His		B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	g	6.975	0.549888	0.13374	.	.	ENSG00000141194	ENST00000268912	T	0.38077	1.16	5.63	3.42	0.39159	.	0.323823	0.27019	N	0.021336	T	0.29945	0.0749	L	0.42686	1.345	0.33598	D	0.601926	B	0.13594	0.008	B	0.12837	0.008	T	0.39099	-0.9630	10	0.52906	T	0.07	-1.6845	10.5517	0.45092	0.1724:0.0:0.8276:0.0	.	292	Q15615	OR4D1_HUMAN	H	292	ENSP00000365451:Q292H	ENSP00000365451:Q292H	Q	+	3	2	OR4D1	53588389	0.066000	0.20996	1.000000	0.80357	0.122000	0.20287	0.048000	0.14078	1.216000	0.43427	0.543000	0.68304	CAG		0.463	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			T	56233390	G	T	56233390	3	4	526	1	0	0	0	0	1	0	0	0	11055	991	35	4	878	4	OR4D1	17	56233390	Missense_Mutation	SNP	G	TCGA-CJ-4903-01A-01D-1429-08	15307868	56233390	24961820	46	28143											
POLG2	11232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62481972	62481972	+	Missense_Mutation	SNP	C	C	T	rs563195356		TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr17:62481972C>T	ENST00000539111.2	-	5	1050	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	POLG2_ENST00000582501.1_5'UTR	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	328					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.R328Q(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CACATTTTTTCGTCCATCTCG	0.423																																					Colon(3;18 21 435 17652 48887)											1	Substitution - Missense(1)	kidney(1)											88	81	84					17																	62481972		2203	4300	6503	SO:0001583	missense	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.983G>A	17.37:g.62481972C>T	ENSP00000442563:p.Arg328Gln		O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196957	0.94960	.	.	ENSG00000256525	ENST00000539111	T	0.78595	-1.19	5.94	5.94	0.96194	.	0.061511	0.64402	D	0.000010	D	0.87188	0.6115	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.82999	-0.0178	10	0.26408	T	0.33	-20.4195	20.4384	0.99098	0.0:1.0:0.0:0.0	.	328;328	E5KS15;Q9UHN1	.;DPOG2_HUMAN	Q	328	ENSP00000442563:R328Q	ENSP00000442563:R328Q	R	-	2	0	POLG2	59912434	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.187000	0.72039	2.831000	0.97527	0.644000	0.83932	CGA		0.423	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		T	62481972	C	T	62481972	3	4	526	1	0	0	0	0	1	0	0	0	12203	884	31	1	490	1	POLG2	17	62481972	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	6248582	62481972	18713238	47	28144											
MKNK2	2872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2043146	2043146	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr19:2043146A>T	ENST00000591601.1	-	6	505	c.470T>A	c.(469-471)cTg>cAg	p.L157Q	MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000309340.7_Missense_Mutation_p.L157Q|MKNK2_ENST00000250896.3_Missense_Mutation_p.L157Q|MKNK2_ENST00000541165.1_Missense_Mutation_p.L26Q|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000591142.1_5'Flank			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.L157Q(2)		breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAAACACCAGGTAGAAGCG	0.632																																																2	Substitution - Missense(2)	kidney(2)											148	149	149					19																	2043146		2203	4300	6503	SO:0001583	missense	2872			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.470T>A	19.37:g.2043146A>T	ENSP00000467811:p.Leu157Gln		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	ENST00000591601.1	37	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	a	25.2	4.617565	0.87359	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165	T;T;T	0.55413	0.52;0.52;0.52	4.37	4.37	0.52481	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.75759	0.3893	M	0.91717	3.235	0.80722	D	1	D;D	0.65815	0.993;0.995	D;D	0.70935	0.971;0.959	T	0.81324	-0.0984	10	0.87932	D	0	-5.0022	11.8334	0.52309	1.0:0.0:0.0:0.0	.	157;157	Q9HBH9;Q9HBH9-2	MKNK2_HUMAN;.	Q	157;157;26	ENSP00000309485:L157Q;ENSP00000250896:L157Q;ENSP00000438904:L26Q	ENSP00000250896:L157Q	L	-	2	0	MKNK2	1994146	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.226000	0.78060	1.733000	0.51620	0.454000	0.30748	CTG		0.632	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		T	2043146	A	T	2043146	3	4	526	1	0	0	0	0	1	0	0	0	9607	188	7	5	1054	5	MKNK2	19	2043146	Missense_Mutation	SNP	A	TCGA-CJ-4903-01A-01D-1429-08		2043146	57085837	48	28145											
ARFGEF2	10564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47591319	47591319	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chr20:47591319A>C	ENST00000371917.4	+	13	1682	c.1682A>C	c.(1681-1683)aAg>aCg	p.K561T		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	561					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.K561T(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGCCTGAGGAAGAAAGGCCTG	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											1	Substitution - Missense(1)	kidney(1)											92	80	84					20																	47591319		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1682A>C	20.37:g.47591319A>C	ENSP00000360985:p.Lys561Thr		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027477	0.75390	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.65364	-0.15	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	L	0.45698	1.435	0.80722	D	1	B	0.20780	0.048	B	0.23419	0.046	T	0.51926	-0.8643	10	0.20046	T	0.44	.	15.9017	0.79384	1.0:0.0:0.0:0.0	.	561	Q9Y6D5	BIG2_HUMAN	T	561	ENSP00000360985:K561T	ENSP00000360985:K561T	K	+	2	0	ARFGEF2	47024726	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.310000	0.96267	2.153000	0.67306	0.460000	0.39030	AAG		0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		C	47591319	A	C	47591319	3	2	526	1	0	0	0	0	1	0	0	0	853	72	3	5	1732	5	ARFGEF2	20	47591319	Missense_Mutation	SNP	A	TCGA-CJ-4903-01A-01D-1429-08		47591319	15434201	49	28146											
TRAPPC2	6399	broad.mit.edu;hgsc.bcm.edu	37	X	13738010	13738010	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chrX:13738010C>T	ENST00000380579.1	-	3	265	c.73G>A	c.(73-75)Gct>Act	p.A25T	TRAPPC2_ENST00000358231.5_Missense_Mutation_p.A25T|TRAPPC2_ENST00000453655.2_Missense_Mutation_p.A25T|TRAPPC2_ENST00000519885.1_Missense_Mutation_p.A25T|TRAPPC2_ENST00000458511.2_Missense_Mutation_p.A59T|TRAPPC2_ENST00000359680.5_Missense_Mutation_p.A25T			P0DI81	TPC2A_HUMAN	trafficking protein particle complex 2	25					ER to Golgi vesicle-mediated transport (GO:0006888)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ion channel binding (GO:0044325)|transcription factor binding (GO:0008134)	p.A25T(1)		kidney(1)	1						GCCTTCCCAGCTGGCAAAAAC	0.358																																																1	Substitution - Missense(1)	kidney(1)											48	39	42					X																	13738010		1814	4069	5883	SO:0001583	missense	6399			AF157061	CCDS48082.1, CCDS48083.1, CCDS48083.2	Xp22	2011-10-10	2005-01-26		ENSG00000196459	ENSG00000196459		"Trafficking protein particle complex"	23068	protein-coding gene	gene with protein product		300202	"spondyloepiphyseal dysplasia, late"	SEDL		14597397	Standard	NM_014563		Approved	TRS20, SEDT, MIP-2A, ZNF547L, hYP38334	uc010nej.2	P0DI81	OTTHUMG00000021157	ENST00000380579.1:c.73G>A	X.37:g.13738010C>T	ENSP00000369953:p.Ala25Thr		A6NEG0|O14582|Q9HD16	Missense_Mutation	SNP	ENST00000380579.1	37	CCDS48082.1	.	.	.	.	.	.	.	.	.	.	C	8.159	0.789113	0.16258	.	.	ENSG00000196459	ENST00000453655;ENST00000359680;ENST00000380579;ENST00000358231;ENST00000458511;ENST00000519885;ENST00000426522;ENST00000518847	D;D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	5.33	1.24	0.21308	Longin-like (1);	0.521756	0.21431	N	0.074644	D	0.85026	0.5603	L	0.31752	0.955	0.25125	N	0.990618	B;B	0.17268	0.021;0.008	B;B	0.17098	0.017;0.015	T	0.62515	-0.6838	10	0.15066	T	0.55	-7.0074	20.3441	0.98786	0.0:0.3065:0.6935:0.0	.	59;25	P0DI81-2;P0DI81	.;TPC2A_HUMAN	T	25;25;25;25;59;25;25;25	ENSP00000394629:A25T;ENSP00000352708:A25T;ENSP00000369953:A25T;ENSP00000350966:A25T;ENSP00000392495:A59T;ENSP00000430725:A25T;ENSP00000428900:A25T	ENSP00000350966:A25T	A	-	1	0	TRAPPC2	13647931	0.421000	0.25465	0.994000	0.49952	0.984000	0.73092	-0.289000	0.08365	-0.098000	0.12285	0.594000	0.82650	GCT		0.358	TRAPPC2-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055805.2	NM_014563		T	13738010	C	T	13738010	3	4	526	1	0	0	0	0	1	0	0	0	16463	797	28	2	365	2	TRAPPC2	23	13738010	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08		13738010	141532550	50	28147											
ATRX	546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	76855280	76855280	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4903-01A-01D-1429-08	TCGA-CJ-4903-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3b685193-f1fa-4c1b-949b-bcdb2d1b934c	224a12b0-8203-45e5-a23e-3c913d687bd7	g.chrX:76855280C>T	ENST00000373344.5	-	24	5921	c.5707G>A	c.(5707-5709)Gat>Aat	p.D1903N	ATRX_ENST00000395603.3_Missense_Mutation_p.D1865N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1903					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.D1903N(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGTCTTCATCAAAATAACCC	0.294			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - Missense(2)|Unknown(1)	kidney(2)|bone(1)											44	42	43					X																	76855280		2203	4294	6497	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5707G>A	X.37:g.76855280C>T	ENSP00000362441:p.Asp1903Asn		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816521	0.70912	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92858	-3.12;-3.12	5.34	5.34	0.76211	.	0.000000	0.85682	U	0.000000	D	0.94032	0.8088	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.788	D	0.94275	0.7514	10	0.51188	T	0.08	-12.2217	18.3055	0.90179	0.0:1.0:0.0:0.0	.	1865;1903	P46100-4;P46100	.;ATRX_HUMAN	N	1903;1865	ENSP00000362441:D1903N;ENSP00000378967:D1865N	ENSP00000362441:D1903N	D	-	1	0	ATRX	76741936	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.445000	0.80570	2.348000	0.79779	0.594000	0.82650	GAT		0.294	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		T	76855280	C	T	76855280	3	4	526	1	0	0	0	0	1	0	0	0	1208	826	29	2	1819	2	ATRX	23	76855280	Missense_Mutation	SNP	C	TCGA-CJ-4903-01A-01D-1429-08	63117270	76855280	78415280	51	28148											
NBPF3	84224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21795329	21795329	+	Silent	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr1:21795329C>G	ENST00000318249.5	+	3	632	c.282C>G	c.(280-282)ctC>ctG	p.L94L	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Silent_p.L94L|NBPF3_ENST00000318220.6_Silent_p.L38L	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	94						cytoplasm (GO:0005737)		p.L94L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAGAAACCTCAAACAGAAAT	0.473											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											82	92	89					1																	21795329		2203	4300	6503	SO:0001819	synonymous_variant	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.282C>G	1.37:g.21795329C>G		751	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	CCDS216.1																																																																																				0.473	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		G	21795329	C	G	21795329	2	3	527	1	0	0	0	0	0	0	0	1	10199	813	29	4		4	NBPF3	1	21795329	Silent	SNP	C	TCGA-CJ-4904-01A-02D-1429-08		21795329	227455292	1	28149											
ZBTB40	9923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22816881	22816881	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr1:22816881A>C	ENST00000375647.4	+	2	647	c.440A>C	c.(439-441)gAa>gCa	p.E147A	ZBTB40_ENST00000404138.1_Missense_Mutation_p.E147A|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E147A	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	147					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E147A(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCTCAAGTAGAAATCCTTTCA	0.537																																																1	Substitution - Missense(1)	kidney(1)											113	123	120					1																	22816881		2203	4300	6503	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.440A>C	1.37:g.22816881A>C	ENSP00000364798:p.Glu147Ala		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.880345	0.51801	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.08984	3.03;3.03;3.09;3.03	4.94	4.94	0.65067	.	0.000000	0.53938	D	0.000045	T	0.24699	0.0599	M	0.64997	1.995	0.27489	N	0.952344	D;D	0.71674	0.998;0.996	D;D	0.68765	0.96;0.914	T	0.02263	-1.1186	10	0.87932	D	0	-15.3716	13.7085	0.62654	1.0:0.0:0.0:0.0	.	147;147	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	A	147	ENSP00000384527:E147A;ENSP00000364798:E147A;ENSP00000383098:E147A;ENSP00000363782:E147A	ENSP00000363782:E147A	E	+	2	0	ZBTB40	22689468	0.993000	0.37304	0.126000	0.21872	0.107000	0.19398	1.978000	0.40598	1.978000	0.57642	0.482000	0.46254	GAA		0.537	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		C	22816881	A	C	22816881	3	2	527	1	0	0	0	0	1	0	0	0	17547	246	9	5	442	5	ZBTB40	1	22816881	Missense_Mutation	SNP	A	TCGA-CJ-4904-01A-02D-1429-08	1021552	22816881	226433740	2	28150											
CCDC76	54482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100606486	100606486	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr1:100606486G>A	ENST00000370141.2	+	7	586	c.580G>A	c.(580-582)Gga>Aga	p.G194R		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	194					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.G194R(1)									AGCGGGAAAGGGAAAATTATC	0.358																																																1	Substitution - Missense(1)	kidney(1)											132	127	129					1																	100606486		2203	4300	6503	SO:0001583	missense	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.580G>A	1.37:g.100606486G>A	ENSP00000359160:p.Gly194Arg		Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	CCDS765.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737802	0.89573	.	.	ENSG00000122435	ENST00000370141	T	0.62105	0.05	5.62	5.62	0.85841	Methyltransferase TRM13 (1);	0.047815	0.85682	D	0.000000	T	0.80215	0.4582	M	0.87456	2.885	0.80722	D	1	P;D	0.67145	0.915;0.996	P;D	0.71184	0.77;0.972	T	0.83121	-0.0118	10	0.87932	D	0	-19.352	19.6541	0.95830	0.0:0.0:1.0:0.0	.	180;194	B4DQS9;Q9NUP7	.;TRM13_HUMAN	R	194	ENSP00000359160:G194R	ENSP00000359160:G194R	G	+	1	0	CCDC76	100379074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.756000	0.91651	2.638000	0.89438	0.563000	0.77884	GGA		0.358	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		A	100606486	G	A	100606486	3	1	527	1	0	0	0	0	1	0	0	0	2852	1233	43	2	606	2	CCDC76	1	100606486	Missense_Mutation	SNP	G	TCGA-CJ-4904-01A-02D-1429-08	77789605	100606486	148644135	3	28151											
F5	2153	broad.mit.edu;hgsc.bcm.edu	37	1	169510307	169510307	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr1:169510307G>C	ENST00000367797.3	-	13	4222	c.4021C>G	c.(4021-4023)Cca>Gca	p.P1341A	F5_ENST00000367796.3_Missense_Mutation_p.P1346A	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1341	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.P1341A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTGAGTTCTGGAGAGAGGTTT	0.527																																																1	Substitution - Missense(1)	kidney(1)											203	226	218					1																	169510307		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4021C>G	1.37:g.169510307G>C	ENSP00000356771:p.Pro1341Ala		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	N	10.75	1.439214	0.25900	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.37915	1.17;1.17	4.62	0.745	0.18359	.	0.905593	0.09702	N	0.766888	T	0.12220	0.0297	L	0.57536	1.79	0.25062	N	0.991058	B	0.20261	0.043	B	0.22601	0.04	T	0.28870	-1.0030	9	0.15952	T	0.53	-1.2883	5.4494	0.16554	0.2159:0.0:0.6353:0.1489	.	1341	P12259	FA5_HUMAN	A	1341;1346	ENSP00000356771:P1341A;ENSP00000356770:P1346A	ENSP00000356770:P1346A	P	-	1	0	F5	167776931	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.395000	0.20850	0.041000	0.15688	-0.500000	0.04577	CCA		0.527	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		C	169510307	G	C	169510307	3	2	527	1	0	0	0	0	1	0	0	0	5350	1174	41	4	2705	4	F5	1	169510307	Missense_Mutation	SNP	G	TCGA-CJ-4904-01A-02D-1429-08	68903821	169510307	79740314	4	28152											
PTCD3	55037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	86359530	86359530	+	Silent	SNP	A	A	G	rs375762783		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr2:86359530A>G	ENST00000254630.7	+	17	1422	c.1356A>G	c.(1354-1356)caA>caG	p.Q452Q		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	452					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.Q452Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GACCTGATCAACATCGTAATT	0.408																																																1	Substitution - coding silent(1)	kidney(1)						A		1,4405	2.1+/-5.4	0,1,2202	165	159	161		1356	-4.8	0	2		161	0,8600		0,0,4300	no	coding-synonymous	PTCD3	NM_017952.5		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		452/690	86359530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55037				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1356A>G	2.37:g.86359530A>G			A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Silent	SNP	ENST00000254630.7	37	CCDS33235.1																																																																																				0.408	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		G	86359530	A	G	86359530	2	3	527	1	0	0	0	0	0	0	0	1	12734	40	2	3		3	PTCD3	2	86359530	Silent	SNP	A	TCGA-CJ-4904-01A-02D-1429-08		86359530	156839843	5	28153											
BARD1	580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	215657073	215657073	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr2:215657073C>G	ENST00000260947.4	-	3	446	c.312G>C	c.(310-312)atG>atC	p.M104I	BARD1_ENST00000471787.1_Intron|BARD1_ENST00000449967.2_Intron	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	104	Interaction with BRCA1.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M104I(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAAGTTGAATCATGCTGTCCA	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																							2	Substitution - Missense(2)	kidney(2)											154	150	152					2																	215657073		2203	4300	6503	SO:0001583	missense	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.312G>C	2.37:g.215657073C>G	ENSP00000260947:p.Met104Ile		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590082	0.46214	.	.	ENSG00000138376	ENST00000260947	T	0.70045	-0.45	5.29	5.29	0.74685	Zinc finger, RING/FYVE/PHD-type (1);	0.041876	0.85682	D	0.000000	T	0.47710	0.1460	N	0.17248	0.465	0.80722	D	1	P	0.42692	0.787	B	0.33121	0.158	T	0.53129	-0.8482	10	0.38643	T	0.18	-24.1431	15.649	0.77076	0.0:0.8626:0.1374:0.0	.	104	Q99728	BARD1_HUMAN	I	104	ENSP00000260947:M104I	ENSP00000260947:M104I	M	-	3	0	BARD1	215365318	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.438000	0.52871	2.633000	0.89246	0.557000	0.71058	ATG		0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		G	215657073	C	G	215657073	3	3	527	1	0	0	0	0	1	0	0	0	1312	826	29	4	2057	4	BARD1	2	215657073	Missense_Mutation	SNP	C	TCGA-CJ-4904-01A-02D-1429-08	129297543	215657073	27542300	6	28154											
SNCA	6622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	90743427	90743427	+	Silent	SNP	A	A	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr4:90743427A>G	ENST00000394986.1	-	4	697	c.276T>C	c.(274-276)acT>acC	p.T92T	SNCA_ENST00000394991.3_Silent_p.T92T|SNCA_ENST00000506244.1_Silent_p.T92T|SNCA_ENST00000505199.1_Silent_p.T78T|SNCA_ENST00000502987.1_Silent_p.T92T|SNCA_ENST00000336904.3_Silent_p.T92T|SNCA_ENST00000420646.2_Silent_p.T92T|SNCA_ENST00000345009.4_Silent_p.T92T|SNCA_ENST00000394989.2_Silent_p.T78T|SNCA_ENST00000508895.1_Silent_p.T92T			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	92					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)	p.T92T(2)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		TGACAAAGCCAGTGGCTGCTG	0.498																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											199	157	171					4																	90743427		2203	4300	6503	SO:0001819	synonymous_variant	6622			L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"Parkinson disease"	11138	protein-coding gene	gene with protein product		163890	"Parkinson disease (autosomal dominant, Lewy body) 4"	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.276T>C	4.37:g.90743427A>G			A8K2A4|Q13701|Q4JHI3|Q6IAU6	Silent	SNP	ENST00000394986.1	37	CCDS3634.1																																																																																				0.498	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253547.2			G	90743427	A	G	90743427	2	3	527	1	0	0	0	0	0	0	0	1	14846	175	7	3		3	SNCA	4	90743427	Silent	SNP	A	TCGA-CJ-4904-01A-02D-1429-08		90743427	100410849	7	28155											
ADH4	127	hgsc.bcm.edu;ucsc.edu	37	4	100047771	100047771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr4:100047771delT	ENST00000265512.7	-	8	1166	c.1092delA	c.(1090-1092)gcafs	p.A364fs	ADH4_ENST00000423445.1_Frame_Shift_Del_p.A383fs|ADH4_ENST00000505590.1_Frame_Shift_Del_p.A383fs|ADH4_ENST00000508393.1_Frame_Shift_Del_p.A383fs|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	364					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TTAGGTCAAATGCCTCACTGA	0.343																																																0													146	143	144					4																	100047771		2203	4300	6503	SO:0001589	frameshift_variant	127			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1092delA	4.37:g.100047771delT	ENSP00000265512:p.Ala364fs		A8K470|B4DIE7|C9J4A9|Q8TCD7	Frame_Shift_Del	DEL	ENST00000265512.7	37	CCDS34032.1																																																																																				0.343	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		-	100047771	T	-	100047771	7	5	527	1	0	1	0	1	0	0	0	0	310	1451	51	0	58	0	ADH4	4	100047771	Frame_Shift_Del	DEL	T	TCGA-CJ-4904-01A-02D-1429-08	9304344	100047771	91106505	8	28156											
GAB1	2549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	144336751	144336751	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr4:144336751G>T	ENST00000262994.4	+	2	496	c.194G>T	c.(193-195)tGt>tTt	p.C65F	GAB1_ENST00000262995.4_Missense_Mutation_p.C65F|GAB1_ENST00000505913.1_5'UTR	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	65	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.C65F(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TTAAATTTATGTCAACAAGTA	0.338																																																1	Substitution - Missense(1)	kidney(1)											92	87	89					4																	144336751		2203	4300	6503	SO:0001583	missense	2549			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.194G>T	4.37:g.144336751G>T	ENSP00000262994:p.Cys65Phe		A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386683	0.82902	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000514639;ENST00000509992	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.85	5.85	0.93711	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89047	0.6604	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89170	0.3536	10	0.72032	D	0.01	-34.8387	20.1731	0.98165	0.0:0.0:1.0:0.0	.	65;65	Q13480;Q13480-2	GAB1_HUMAN;.	F	65;65;65;44	ENSP00000262995:C65F;ENSP00000262994:C65F;ENSP00000427435:C65F;ENSP00000425921:C44F	ENSP00000262994:C65F	C	+	2	0	GAB1	144556201	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.771000	0.98977	2.768000	0.95171	0.655000	0.94253	TGT		0.338	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		T	144336751	G	T	144336751	3	4	527	1	0	0	0	0	1	0	0	0	6150	1377	48	4	200	4	GAB1	4	144336751	Missense_Mutation	SNP	G	TCGA-CJ-4904-01A-02D-1429-08	44288980	144336751	46817525	9	28157											
GPM6A	2823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	176622807	176622807	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr4:176622807G>A	ENST00000280187.7	-	3	194	c.149C>T	c.(148-150)gCg>gTg	p.A50V	GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V|GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V|GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	50					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.A50V(3)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCAGAAAGCGCTTCATGACC	0.488																																																3	Substitution - Missense(3)	kidney(2)|prostate(1)											154	144	148					4																	176622807		2203	4300	6503	SO:0001583	missense	2823				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.149C>T	4.37:g.176622807G>A	ENSP00000280187:p.Ala50Val		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598683	0.96614	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000513365;ENST00000505304	D;D;D;D;D;D;D	0.99548	-6.14;-6.14;-6.14;-6.14;-6.14;-6.14;-6.14	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.98505	1.0616	10	0.87932	D	0	-0.21	20.5211	0.99222	0.0:0.0:1.0:0.0	.	43;39;50	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	V	50;50;39;43;42;50;43	ENSP00000280187:A50V;ENSP00000377268:A50V;ENSP00000421578:A39V;ENSP00000423984:A43V;ENSP00000422959:A42V;ENSP00000423122:A50V;ENSP00000425463:A43V	ENSP00000280187:A50V	A	-	2	0	GPM6A	176859801	1.000000	0.71417	0.970000	0.41538	0.897000	0.52465	9.476000	0.97823	2.861000	0.98227	0.650000	0.86243	GCG		0.488	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			A	176622807	G	A	176622807	3	1	527	1	0	0	0	0	1	0	0	0	6617	1087	38	1	711	1	GPM6A	4	176622807	Missense_Mutation	SNP	G	TCGA-CJ-4904-01A-02D-1429-08	32286056	176622807	14531469	10	28158											
NNT	23530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43619222	43619222	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr5:43619222G>A	ENST00000264663.5	+	5	908		c.e5+1		NNT_ENST00000344920.4_Splice_Site|NNT_ENST00000512996.2_Splice_Site	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase						cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TCCAGCTAAGGTAGGTACAAC	0.299																																																1	Unknown(1)	kidney(1)											54	55	55					5																	43619222		2203	4300	6503	SO:0001630	splice_region_variant	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.687+1G>A	5.37:g.43619222G>A			Q16796|Q2TB60|Q8N3V4	Splice_Site	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607109	0.87157	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4772	0.94994	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NNT	43654979	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.058000	0.93896	2.602000	0.87976	0.563000	0.77884	.		0.299	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	Intron	A	43619222	G	A	43619222	5	1	527	1	0	0	0	0	0	0	1	0	10512	1275	44	2	702	2	NNT	5	43619222	Splice_Site	SNP	G	TCGA-CJ-4904-01A-02D-1429-08		43619222	137296038	11	28159											
NRG2	9542	broad.mit.edu	37	5	139422020	139422020	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr5:139422020G>A	ENST00000361474.1	-	1	859	c.635C>T	c.(634-636)gCc>gTc	p.A212V	NRG2_ENST00000545385.1_Missense_Mutation_p.A212V|NRG2_ENST00000358522.3_Missense_Mutation_p.A212V|NRG2_ENST00000394770.1_Missense_Mutation_p.A212V|NRG2_ENST00000541337.1_Missense_Mutation_p.A212V|NRG2_ENST00000289409.4_Missense_Mutation_p.A212V|NRG2_ENST00000289422.7_Missense_Mutation_p.A212V	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	212					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.A120V(1)|p.A212V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGAGGGGGGCAAAGGCCGT	0.572																																																2	Substitution - Missense(2)	kidney(2)											21	23	22					5																	139422020		2202	4300	6502	SO:0001583	missense	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.635C>T	5.37:g.139422020G>A	ENSP00000354910:p.Ala212Val			Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953693	0.73902	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	T;T;T;T;T;T;T;T	0.75260	-0.53;-0.71;-0.67;-0.71;-0.72;-0.92;-0.71;-0.72	4.04	4.04	0.47022	.	0.000000	0.48767	U	0.000172	T	0.73628	0.3611	L	0.39898	1.24	0.46185	D	0.998911	P;P;D;B	0.53619	0.867;0.791;0.961;0.337	P;B;P;B	0.52066	0.461;0.272;0.689;0.082	T	0.73827	-0.3860	10	0.38643	T	0.18	-0.29	13.9789	0.64291	0.0:0.0:1.0:0.0	.	212;212;212;212	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	V	212;212;212;212;212;212;212;212;120;212	ENSP00000444235:A212V;ENSP00000289422:A212V;ENSP00000354910:A212V;ENSP00000438753:A212V;ENSP00000378251:A212V;ENSP00000289409:A212V;ENSP00000351323:A212V;ENSP00000367483:A212V	ENSP00000289409:A212V	A	-	2	0	NRG2	139402204	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.253000	0.89842	1.804000	0.52760	0.305000	0.20034	GCC		0.572	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		A	139422020	G	A	139422020	3	1	527	1	0	0	0	0	1	0	0	0	10650	1203	42	2	2048	2	NRG2	5	139422020	Missense_Mutation	SNP	G	TCGA-CJ-4904-01A-02D-1429-08	95802798	139422020	41493240	12	28160											
FOXQ1	94234	hgsc.bcm.edu;ucsc.edu	37	6	1313357	1313357	+	Silent	SNP	T	T	C			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr6:1313357T>C	ENST00000296839.2	+	1	683	c.418T>C	c.(418-420)Ttg>Ctg	p.L140L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	140					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GGGCGGGCGCTTGACGCTGGC	0.657																																																0													25	27	27					6																	1313357		2181	4261	6442	SO:0001819	synonymous_variant	94234			AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"Forkhead boxes"	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.418T>C	6.37:g.1313357T>C			Q9NS06	Silent	SNP	ENST00000296839.2	37	CCDS4471.1																																																																																				0.657	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		C	1313357	T	C	1313357	2	2	527	1	0	0	0	0	0	0	0	1	6032	1606	56	3		3	FOXQ1	6	1313357	Silent	SNP	T	TCGA-CJ-4904-01A-02D-1429-08		1313357	169801710	13	28161											
OR2B3	442184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	29054943	29054943	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr6:29054943A>G	ENST00000377173.2	-	1	147	c.83T>C	c.(82-84)tTt>tCt	p.F28S		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28S(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CAGGACCACAAAAAGGGGCAT	0.408																																																1	Substitution - Missense(1)	kidney(1)											112	104	107					6																	29054943		2203	4300	6503	SO:0001583	missense	442184				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"GPCR / Class A : Olfactory receptors"	8238	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 3 pseudogene"	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.83T>C	6.37:g.29054943A>G	ENSP00000366378:p.Phe28Ser		B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	A	8.344	0.829397	0.16749	.	.	ENSG00000204703	ENST00000377173	T	0.04551	3.6	3.9	1.41	0.22369	.	0.360354	0.19841	U	0.104845	T	0.02083	0.0065	M	0.69358	2.11	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.40156	-0.9578	10	0.48119	T	0.1	.	7.8281	0.29326	0.8173:0.0:0.1827:0.0	.	28	O76000	OR2B3_HUMAN	S	28	ENSP00000366378:F28S	ENSP00000366378:F28S	F	-	2	0	OR2B3	29162922	0.005000	0.15991	0.001000	0.08648	0.735000	0.41995	2.000000	0.40816	-0.009000	0.14296	-0.396000	0.06452	TTT		0.408	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			G	29054943	A	G	29054943	3	3	527	1	0	0	0	0	1	0	0	0	10992	14	1	3	862	3	OR2B3	6	29054943	Missense_Mutation	SNP	A	TCGA-CJ-4904-01A-02D-1429-08	27741586	29054943	142060124	14	28162											
BAT3	7917	hgsc.bcm.edu	37	6	31609641	31609642	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr6:31609641_31609642insG	ENST00000375964.6	-	16	2639_2640	c.2326_2327insC	c.(2326-2328)cagfs	p.Q776fs	BAG6_ENST00000211379.5_Frame_Shift_Ins_p.Q770fs|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.Q770fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.Q770fs|BAG6_ENST00000404765.2_Frame_Shift_Ins_p.Q806fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.Q644fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	776					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTGTAGTGGCTGGAAATGCCCA	0.559																																																0																																										SO:0001589	frameshift_variant	7917			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2327dupC	6.37:g.31609643_31609643dupG	ENSP00000365131:p.Gln776fs		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Ins	INS	ENST00000375964.6	37	CCDS47403.1																																																																																				0.559	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		G	31609642	-	G	31609641	7	5	527	1	0	1	1	0	0	0	0	0	1322	1580	55	0	1111	0	BAT3	6	31609641	Frame_Shift_Ins	INS	-	TCGA-CJ-4904-01A-02D-1429-08	2554698	31609641	139505426	15	28163											
MOSPD3	64598	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100211278	100211278	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr7:100211278C>A	ENST00000393950.2	+	3	742	c.460C>A	c.(460-462)Cca>Aca	p.P154T	MOSPD3_ENST00000379527.2_Missense_Mutation_p.P154T|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P154T|MOSPD3_ENST00000424091.2_Missense_Mutation_p.P144T	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	154					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.P154S(1)|p.P154T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCGCCTCGCCCAGGGCCTCC	0.622																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											46	46	46					7																	100211278		2203	4300	6503	SO:0001583	missense	64598			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.460C>A	7.37:g.100211278C>A	ENSP00000377522:p.Pro154Thr		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	C	5.081	0.200530	0.09652	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	.	.	.	4.12	3.23	0.37069	.	0.548559	0.16396	N	0.216239	T	0.39963	0.1098	N	0.22421	0.69	0.38133	D	0.938229	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24728	-1.0152	9	0.14656	T	0.56	0.0097	11.5482	0.50706	0.1804:0.8196:0.0:0.0	.	144;154	C9JE89;O75425	.;MSPD3_HUMAN	T	154;154;154;154;144;140	.	ENSP00000223054:P154T	P	+	1	0	MOSPD3	100049214	0.736000	0.28164	0.856000	0.33681	0.625000	0.37756	2.246000	0.43142	1.313000	0.45069	0.563000	0.77884	CCA		0.622	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		A	100211278	C	A	100211278	3	1	527	1	0	0	0	0	1	0	0	0	9719	623	22	4	470	4	MOSPD3	7	100211278	Missense_Mutation	SNP	C	TCGA-CJ-4904-01A-02D-1429-08		100211278	58927385	16	28164											
JHDM1D	80853	hgsc.bcm.edu;ucsc.edu	37	7	139798703	139798703	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr7:139798703delC	ENST00000397560.2	-	14	1991	c.1894delG	c.(1894-1896)gaafs	p.E633fs	JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.E633fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		633					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGAGATTCTTCATGTTCCACT	0.299																																																0													176	161	166					7																	139798703		1833	4080	5913	SO:0001589	frameshift_variant	80853																														ENST00000397560.2:c.1894delG	7.37:g.139798703delC	ENSP00000380692:p.Glu633fs		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Del	DEL	ENST00000397560.2	37	CCDS43658.1																																																																																				0.299	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			-	139798703	C	-	139798703	7	5	527	1	0	1	0	1	0	0	0	0	7950	835	29	0	959	0	JHDM1D	7	139798703	Frame_Shift_Del	DEL	C	TCGA-CJ-4904-01A-02D-1429-08	39587425	139798703	19339960	17	28165											
TG	7038	broad.mit.edu;hgsc.bcm.edu	37	8	134034366	134034366	+	Missense_Mutation	SNP	G	G	A	rs121912650		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr8:134034366G>A	ENST00000220616.4	+	40	7047	c.7007G>A	c.(7006-7008)cGa>cAa	p.R2336Q	TG_ENST00000542445.1_Missense_Mutation_p.R706Q|TG_ENST00000377869.1_Missense_Mutation_p.R2279Q|TG_ENST00000519543.1_Missense_Mutation_p.R469Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2336			R -> Q (in TDH3). {ECO:0000269|PubMed:16477365}.		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R2336Q(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCAGCTACCGAGTGGGTGTC	0.602																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	GRCh37	CM063181	TG	M	rs121912650						154	139	144					8																	134034366		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7007G>A	8.37:g.134034366G>A	ENSP00000220616:p.Arg2336Gln		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	36	5.739622	0.96873	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	5.93	5.93	0.95920	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000002	D	0.97539	0.9194	H	0.99026	4.405	0.51767	A	0.999937	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98698	1.0699	9	0.87932	D	0	.	17.0766	0.86588	0.0:0.0:1.0:0.0	.	469;706;2336	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	Q	2279;1142;2336;706;469	ENSP00000367100:R2279Q;ENSP00000220616:R2336Q;ENSP00000441693:R706Q;ENSP00000430430:R469Q	ENSP00000220616:R2336Q	R	+	2	0	TG	134103548	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.497000	0.90488	2.815000	0.96918	0.561000	0.74099	CGA		0.602	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	134034366	G	A	134034366	3	1	527	1	0	0	0	0	1	0	0	0	15818	1058	37	1	7165	1	TG	8	134034366	Missense_Mutation	SNP	G	TCGA-CJ-4904-01A-02D-1429-08		134034366	12329656	18	28166											
C9orf98	158067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	135602886	135602886	+	Missense_Mutation	SNP	A	A	T	rs570204054		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr9:135602886A>T	ENST00000298545.3	-	12	1678	c.1157T>A	c.(1156-1158)aTg>aAg	p.M386K	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	386	Adenylate kinase 2.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.M386K(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CAGCCGCTCCATGATGGAATC	0.448																																																2	Substitution - Missense(2)	kidney(2)											96	93	94					9																	135602886		2203	4300	6503	SO:0001583	missense	158067			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.1157T>A	9.37:g.135602886A>T	ENSP00000298545:p.Met386Lys		A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	A	7.331	0.618855	0.14129	.	.	ENSG00000165695	ENST00000298545	T	0.75821	-0.97	4.85	2.51	0.30379	.	0.910316	0.09442	N	0.801634	T	0.57932	0.2087	N	0.21282	0.65	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50566	-0.8813	10	0.66056	D	0.02	-0.628	3.6542	0.08214	0.7051:0.0:0.1022:0.1927	.	386	Q96MA6	KAD8_HUMAN	K	386	ENSP00000298545:M386K	ENSP00000298545:M386K	M	-	2	0	AK8	134592707	0.729000	0.28090	0.004000	0.12327	0.425000	0.31504	2.404000	0.44539	0.697000	0.31718	-0.549000	0.04216	ATG		0.448	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		T	135602886	A	T	135602886	3	4	527	1	0	0	0	0	1	0	0	0	2511	217	8	5	290	5	C9orf98	9	135602886	Missense_Mutation	SNP	A	TCGA-CJ-4904-01A-02D-1429-08		135602886	5610545	19	28167											
PLEKHA7	144100	hgsc.bcm.edu	37	11	16876457	16876457	+	Silent	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr11:16876457C>T	ENST00000355661.3	-	6	511	c.501G>A	c.(499-501)gtG>gtA	p.V167V	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.V167V|PLEKHA7_ENST00000448080.2_Silent_p.V167V			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	167	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCCAGCCCCTCACCACCACGG	0.537																																																0													94	87	89					11																	16876457		2200	4294	6494	SO:0001819	synonymous_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.501G>A	11.37:g.16876457C>T			B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	CCDS31434.1																																																																																				0.537	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		T	16876457	C	T	16876457	2	4	527	1	0	0	0	0	0	0	0	1	12063	813	29	2		2	PLEKHA7	11	16876457	Silent	SNP	C	TCGA-CJ-4904-01A-02D-1429-08		16876457	118130059	20	28168											
PPP1R14B	26472	broad.mit.edu	37	11	64013926	64013926	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr11:64013926A>G	ENST00000309318.3	-	1	487	c.220T>C	c.(220-222)Tgg>Cgg	p.W74R	RP11-783K16.5_ENST00000538355.1_RNA|PPP1R14B_ENST00000542235.1_5'Flank|PPP1R14B_ENST00000392210.2_5'Flank|RP11-783K16.5_ENST00000544553.1_RNA|RP11-783K16.13_ENST00000545800.1_lincRNA	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	74					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)	p.W256R(1)		kidney(1)|lung(1)|pancreas(1)	3						TCCAGGATCCACTCCTCTAGG	0.672																																																1	Substitution - Missense(1)	kidney(1)											38	28	32					11																	64013926		2200	4293	6493	SO:0001583	missense	26472			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.220T>C	11.37:g.64013926A>G	ENSP00000310117:p.Trp74Arg		Q504S7|Q7KZD7	Missense_Mutation	SNP	ENST00000309318.3	37	CCDS31596.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080411	0.76528	.	.	ENSG00000173457	ENST00000309318	.	.	.	2.98	2.98	0.34508	.	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.87617	2.895	0.80722	D	1	D	0.71674	0.998	D	0.65874	0.939	T	0.80054	-0.1543	9	0.62326	D	0.03	-14.1903	9.6744	0.40032	1.0:0.0:0.0:0.0	.	74	Q96C90	PP14B_HUMAN	R	74	.	ENSP00000310117:W74R	W	-	1	0	PPP1R14B	63770502	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.511000	0.73733	1.612000	0.50221	0.459000	0.35465	TGG		0.672	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396586.2	NM_138689		G	64013926	A	G	64013926	3	3	527	1	0	0	0	0	1	0	0	0	12365	159	6	3	239	3	PPP1R14B	11	64013926	Missense_Mutation	SNP	A	TCGA-CJ-4904-01A-02D-1429-08	47137469	64013926	70992590	21	28169											
CWC15	55693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94704596	94704596	+	5'Flank	SNP	A	A	C			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr11:94704596A>C	ENST00000335080.5	+	0	0				KDM4D_ENST00000536741.1_5'Flank|CWC15_ENST00000545018.1_5'UTR|CWC15_ENST00000279839.6_Missense_Mutation_p.L63V	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTTTCTTCCAACTCTCTCCTG	0.428																																																0													60	56	57					11																	94704596		1847	4097	5944	SO:0001631	upstream_gene_variant	51503			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838		11.37:g.94704596A>C	Exception_encountered		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	CCDS8302.1																																																																																				0.428	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		C	94704596	A	C	94704596	1	2	527	0	1	0	0	0	0	0	0	0	4069	40	2	5		5	CWC15	11	94704596	5'Flank	SNP	A	TCGA-CJ-4904-01A-02D-1429-08	30690670	94704596	40301920	22	28170											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108170468	108170468	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr11:108170468T>G	ENST00000452508.2	+	35	5222	c.5033T>G	c.(5032-5034)gTg>gGg	p.V1678G	ATM_ENST00000278616.4_Missense_Mutation_p.V1678G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1678					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.V1678G(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTGGGAGAAGTGGGTCCTATA	0.353			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	2	Substitution - Missense(2)	kidney(2)											118	125	123					11																	108170468		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5033T>G	11.37:g.108170468T>G	ENSP00000388058:p.Val1678Gly		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682179	0.68042	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.71222	-0.55;-0.55	5.47	5.47	0.80525	Armadillo-type fold (1);	0.598723	0.17457	N	0.173564	T	0.68760	0.3036	L	0.47716	1.5	0.49687	D	0.999813	P	0.39131	0.661	B	0.40565	0.333	T	0.72357	-0.4318	10	0.87932	D	0	.	15.5639	0.76273	0.0:0.0:0.0:1.0	.	1678	Q13315	ATM_HUMAN	G	1678	ENSP00000278616:V1678G;ENSP00000388058:V1678G	ENSP00000278616:V1678G	V	+	2	0	ATM	107675678	1.000000	0.71417	0.912000	0.35992	0.997000	0.91878	7.314000	0.78988	2.072000	0.62099	0.528000	0.53228	GTG		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		G	108170468	T	G	108170468	3	3	527	1	0	0	0	0	1	0	0	0	1109	1696	59	5	5163	5	ATM	11	108170468	Missense_Mutation	SNP	T	TCGA-CJ-4904-01A-02D-1429-08	13465872	108170468	26836048	23	28171											
KRT73	319101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53012201	53012201	+	Silent	SNP	G	G	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr12:53012201G>T	ENST00000305748.3	-	1	142	c.108C>A	c.(106-108)ggC>ggA	p.G36G		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	36	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G36G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAGCCCTTTGCCCCCTGCTC	0.642																																																1	Substitution - coding silent(1)	kidney(1)											51	59	56					12																	53012201		2203	4300	6503	SO:0001819	synonymous_variant	319101			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.108C>A	12.37:g.53012201G>T			Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																				0.642	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		T	53012201	G	T	53012201	2	4	527	1	0	0	0	0	0	0	0	1	8488	1306	46	4		4	KRT73	12	53012201	Silent	SNP	G	TCGA-CJ-4904-01A-02D-1429-08		53012201	80839694	24	28172											
GDF11	10220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56142619	56142619	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr12:56142619C>G	ENST00000257868.5	+	2	732	c.695C>G	c.(694-696)tCa>tGa	p.S232*		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	232					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)		p.S232*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CACTCACGCTCAGGCCATTGG	0.597																																																1	Substitution - Nonsense(1)	kidney(1)											59	42	48					12																	56142619		2203	4300	6503	SO:0001587	stop_gained	10220			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.695C>G	12.37:g.56142619C>G	ENSP00000257868:p.Ser232*		Q9UID1|Q9UID2	Nonsense_Mutation	SNP	ENST00000257868.5	37	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.271658|4.271658	0.80469|0.80469	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000546799|ENST00000257868	.|.	.|.	.|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|1.909140	.|0.02571	.|N	.|0.097756	T|.	0.61123|.	0.2322|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53450|.	-0.8437|.	3|.	.|0.36615	.|T	.|0.2	-11.9282|-11.9282	15.8338|15.8338	0.78782|0.78782	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	205|232	.|.	.|ENSP00000257868:S232X	Q|S	+|+	1|2	0|0	GDF11|GDF11	54428886|54428886	0.000000|0.000000	0.05858|0.05858	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	0.512000|0.512000	0.22755|0.22755	2.427000|2.427000	0.82271|0.82271	0.555000|0.555000	0.69702|0.69702	CAG|TCA		0.597	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			G	56142619	C	G	56142619	4	3	527	1	0	0	0	0	0	1	0	0	6314	838	29	4	701	4	GDF11	12	56142619	Nonsense_Mutation	SNP	C	TCGA-CJ-4904-01A-02D-1429-08	3130418	56142619	77709276	25	28173											
FSCB	84075	broad.mit.edu;hgsc.bcm.edu	37	14	44973940	44973940	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr14:44973940C>G	ENST00000340446.4	-	1	2542	c.2251G>C	c.(2251-2253)Gct>Cct	p.A751P	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	751						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.A751P(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACCAGAGCCTCATCTTCA	0.468																																																1	Substitution - Missense(1)	kidney(1)											60	64	62					14																	44973940		2203	4300	6503	SO:0001583	missense	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2251G>C	14.37:g.44973940C>G	ENSP00000344579:p.Ala751Pro		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081901	0.55861	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14893	2.47	4.49	2.33	0.28932	.	.	.	.	.	T	0.11836	0.0288	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.23150	0.044	T	0.31110	-0.9955	9	0.33940	T	0.23	1.0258	6.2166	0.20658	0.0:0.6885:0.1769:0.1346	.	751	Q5H9T9	FSCB_HUMAN	P	751;644	ENSP00000344579:A751P	ENSP00000344579:A751P	A	-	1	0	FSCB	44043690	0.000000	0.05858	0.007000	0.13788	0.346000	0.29079	-0.338000	0.07842	0.448000	0.26722	0.305000	0.20034	GCT		0.468	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		G	44973940	C	G	44973940	3	3	527	1	0	0	0	0	1	0	0	0	6068	739	26	4	230	4	FSCB	14	44973940	Missense_Mutation	SNP	C	TCGA-CJ-4904-01A-02D-1429-08		44973940	62375600	26	28174											
TGM5	9333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43552495	43552495	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr15:43552495C>T	ENST00000220420.5	-	3	198	c.191G>A	c.(190-192)gGa>gAa	p.G64E	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	64					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G64E(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGGCAGCGGTCCTAGGAGGGA	0.647																																																1	Substitution - Missense(1)	kidney(1)											36	43	40					15																	43552495		2202	4299	6501	SO:0001630	splice_region_variant	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.191-1G>A	15.37:g.43552495C>T			O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756131	0.49362	.	.	ENSG00000104055	ENST00000220420;ENST00000396996	D	0.96774	-4.12	4.59	4.59	0.56863	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.058299	0.64402	D	0.000002	D	0.98090	0.9370	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98740	1.0716	10	0.87932	D	0	.	15.2791	0.73767	0.0:1.0:0.0:0.0	.	64	O43548	TGM5_HUMAN	E	64;63	ENSP00000220420:G64E	ENSP00000220420:G64E	G	-	2	0	TGM5	41339787	0.998000	0.40836	0.993000	0.49108	0.052000	0.14988	1.601000	0.36773	2.532000	0.85374	0.655000	0.94253	GGA		0.647	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	Missense_Mutation	T	43552495	C	T	43552495	5	4	527	1	0	0	0	0	0	0	1	0	15838	869	30	2	2015	2	TGM5	15	43552495	Splice_Site	SNP	C	TCGA-CJ-4904-01A-02D-1429-08		43552495	58978897	27	28175											
PLEKHO2	80301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65157582	65157582	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr15:65157582C>T	ENST00000323544.4	+	6	1096	c.968C>T	c.(967-969)gCc>gTc	p.A323V	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	323	Pro-rich.							p.A323V(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAACTGAAAGCCTCCATGGGT	0.602																																																1	Substitution - Missense(1)	kidney(1)											48	55	53					15																	65157582		2202	4299	6501	SO:0001583	missense	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.968C>T	15.37:g.65157582C>T	ENSP00000326706:p.Ala323Val		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235504	0.58886	.	.	ENSG00000241839	ENST00000323544	T	0.33654	1.4	5.49	4.51	0.55191	.	0.276731	0.37393	N	0.002107	T	0.45856	0.1363	L	0.32530	0.975	0.31249	N	0.694239	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.941	T	0.43940	-0.9360	10	0.38643	T	0.18	.	12.5612	0.56281	0.1656:0.8344:0.0:0.0	.	273;323	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	V	323	ENSP00000326706:A323V	ENSP00000326706:A323V	A	+	2	0	PLEKHO2	62944635	0.849000	0.29639	0.982000	0.44146	0.346000	0.29079	1.452000	0.35156	2.565000	0.86533	0.655000	0.94253	GCC		0.602	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		T	65157582	C	T	65157582	3	4	527	1	0	0	0	0	1	0	0	0	12087	739	26	2	990	2	PLEKHO2	15	65157582	Missense_Mutation	SNP	C	TCGA-CJ-4904-01A-02D-1429-08	21605087	65157582	37373810	28	28176											
ITGA11	22801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68642956	68642956	+	Splice_Site	SNP	T	T	A	rs367691033		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr15:68642956T>A	ENST00000315757.7	-	9	1145	c.1059A>T	c.(1057-1059)gaA>gaT	p.E353D	ITGA11_ENST00000423218.2_Splice_Site_p.E353D|ITGA11_ENST00000562826.1_5'Flank	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	353					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.E353D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						ATTGCTTACCTTCCAGGCTGA	0.502																																																1	Substitution - Missense(1)	kidney(1)											111	109	110					15																	68642956		1986	4168	6154	SO:0001630	splice_region_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1060+1A>T	15.37:g.68642956T>A			J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292762	0.80914	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.72615	-0.67;-0.67	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.85813	0.5784	M	0.91038	3.17	0.48511	D	0.999663	B;D	0.58620	0.066;0.983	B;D	0.64687	0.039;0.928	D	0.87986	0.2746	10	0.48119	T	0.1	.	14.2165	0.65797	0.0:0.0:0.0:1.0	.	353;353	A8K8T0;Q9UKX5	.;ITA11_HUMAN	D	353	ENSP00000327290:E353D;ENSP00000403392:E353D	ENSP00000327290:E353D	E	-	3	2	ITGA11	66430010	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.848000	0.55903	1.960000	0.56953	0.448000	0.29417	GAA		0.502	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	Missense_Mutation	A	68642956	T	A	68642956	5	1	527	1	0	0	0	0	0	0	1	0	7876	1623	56	5	2595	5	ITGA11	15	68642956	Splice_Site	SNP	T	TCGA-CJ-4904-01A-02D-1429-08	3485374	68642956	33888436	29	28177											
ADAMTS18	170692	broad.mit.edu;hgsc.bcm.edu	37	16	77387747	77387747	+	Silent	SNP	C	C	T	rs372413157		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr16:77387747C>T	ENST00000282849.5	-	10	1915	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	499	Disintegrin.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K499K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTCCTGCTTGCTTGGGCTCAT	0.423																																																1	Substitution - coding silent(1)	kidney(1)						C		1,4395	2.1+/-5.4	0,1,2197	312	283	292		1497	3.2	1	16		292	0,8600		0,0,4300	no	coding-synonymous	ADAMTS18	NM_199355.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		499/1222	77387747	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1497G>A	16.37:g.77387747C>T			Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	CCDS10926.1																																																																																				0.423	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77387747	C	T	77387747	2	4	527	1	0	0	0	0	0	0	0	1	263	796	28	2		2	ADAMTS18	16	77387747	Silent	SNP	C	TCGA-CJ-4904-01A-02D-1429-08		77387747	12967006	30	28178											
RAI1	10743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	17699836	17699836	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr17:17699836A>G	ENST00000353383.1	+	3	4043	c.3574A>G	c.(3574-3576)Agc>Ggc	p.S1192G	RAI1_ENST00000261641.6_Missense_Mutation_p.S1192G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1192					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.S1192G(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGTCTCCAGCAGCCCCCAGAA	0.657																																																1	Substitution - Missense(1)	kidney(1)											37	44	42					17																	17699836		2203	4300	6503	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3574A>G	17.37:g.17699836A>G	ENSP00000323074:p.Ser1192Gly		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	3.452	-0.111872	0.06881	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.68025	-0.3;0.31	3.92	0.289	0.15723	.	0.693170	0.12970	N	0.424217	T	0.48642	0.1511	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29212	-1.0019	10	0.33141	T	0.24	.	6.5491	0.22423	0.6742:0.0:0.3258:0.0	.	1192	Q7Z5J4	RAI1_HUMAN	G	1192;1192;1192;1144	ENSP00000323074:S1192G;ENSP00000261641:S1192G	ENSP00000261641:S1192G	S	+	1	0	RAI1	17640561	0.888000	0.30383	0.094000	0.20943	0.717000	0.41224	0.969000	0.29370	-0.111000	0.12001	0.402000	0.26972	AGC		0.657	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		G	17699836	A	G	17699836	3	3	527	1	0	0	0	0	1	0	0	0	13013	188	7	3	3576	3	RAI1	17	17699836	Missense_Mutation	SNP	A	TCGA-CJ-4904-01A-02D-1429-08		17699836	63495374	31	28179											
SLFN12L	100506736	broad.mit.edu;ucsc.edu	37	17	33802445	33802445	+	Missense_Mutation	SNP	G	G	T	rs546879318		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr17:33802445G>T	ENST00000260908.7	-	4	1381	c.1264C>A	c.(1264-1266)Cat>Aat	p.H422N	SLFN12L_ENST00000361112.4_Missense_Mutation_p.H451N|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Missense_Mutation_p.H453N	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	422						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.H453N(2)|p.H451N(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AGTCCTTCATGTTGTGAGAAC	0.393																																																3	Substitution - Missense(3)	kidney(3)											59	48	51					17																	33802445		692	1591	2283	SO:0001583	missense	100506736			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1264C>A	17.37:g.33802445G>T	ENSP00000437635:p.His422Asn		F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479782	0.26511	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.04758	3.57;3.68;3.56	2.38	1.33	0.21861	.	.	.	.	.	T	0.05135	0.0137	M	0.66939	2.045	0.09310	N	1	P	0.44344	0.833	B	0.32022	0.139	T	0.35051	-0.9804	9	0.44086	T	0.13	.	6.8064	0.23780	0.0:0.2946:0.7054:0.0	.	451	Q6IEE8-2	.	N	422;451;453	ENSP00000437635:H422N;ENSP00000354412:H451N;ENSP00000389348:H453N	ENSP00000437635:H422N	H	-	1	0	SLFN12L	30826558	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.546000	0.06062	0.291000	0.22468	0.205000	0.17691	CAT		0.393	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		T	33802445	G	T	33802445	3	4	527	1	0	0	0	0	1	0	0	0	14741	1377	48	4	506	4	SLFN12L	17	33802445	Missense_Mutation	SNP	G	TCGA-CJ-4904-01A-02D-1429-08	16102609	33802445	47392765	32	28180											
TADA2A	6871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35836946	35836946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr17:35836946C>A	ENST00000394395.2	+	16	1364	c.1191C>A	c.(1189-1191)taC>taA	p.Y397*	TADA2A_ENST00000225396.6_Nonsense_Mutation_p.Y397*	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	397	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.Y397*(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATTTAGAATACAAATCTGCTC	0.398																																																2	Substitution - Nonsense(2)	kidney(2)											139	144	142					17																	35836946		2203	4300	6503	SO:0001587	stop_gained	6871			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1191C>A	17.37:g.35836946C>A	ENSP00000377918:p.Tyr397*		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Nonsense_Mutation	SNP	ENST00000394395.2	37	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	C	38	6.719013	0.97788	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	.	.	.	5.93	2.82	0.32997	.	0.053957	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3457	10.4462	0.44495	0.0:0.7266:0.0:0.2734	.	.	.	.	X	397;296;397	.	ENSP00000225396:Y397X	Y	+	3	2	TADA2A	32911059	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.461000	0.21940	0.380000	0.24823	0.557000	0.71058	TAC		0.398	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		A	35836946	C	A	35836946	4	1	527	1	0	0	0	0	0	1	0	0	15515	489	17	4	1344	4	TADA2A	17	35836946	Nonsense_Mutation	SNP	C	TCGA-CJ-4904-01A-02D-1429-08	2034501	35836946	45358264	33	28181											
DYM	54808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	46906085	46906085	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr18:46906085C>G	ENST00000269445.6	-	4	694	c.237G>C	c.(235-237)aaG>aaC	p.K79N	DYM_ENST00000578396.1_5'Flank|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	79					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)	p.K79N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AAAGGAAGACCTTAATTAGTG	0.313																																																1	Substitution - Missense(1)	kidney(1)											124	127	126					18																	46906085		2203	4300	6503	SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.237G>C	18.37:g.46906085C>G	ENSP00000269445:p.Lys79Asn		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489820	0.26686	.	.	ENSG00000141627	ENST00000269445	D	0.83250	-1.7	5.28	2.49	0.30216	.	0.101317	0.64402	D	0.000002	T	0.68146	0.2969	L	0.31664	0.95	0.80722	D	1	B	0.18461	0.028	B	0.17722	0.019	T	0.53472	-0.8434	10	0.23891	T	0.37	-20.2542	4.4175	0.11463	0.0:0.4752:0.1593:0.3654	.	79	Q7RTS9	DYM_HUMAN	N	79	ENSP00000269445:K79N	ENSP00000269445:K79N	K	-	3	2	DYM	45160083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.838000	0.27572	0.303000	0.22785	0.650000	0.86243	AAG		0.313	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		G	46906085	C	G	46906085	3	3	527	1	0	0	0	0	1	0	0	0	4842	680	24	4	1828	4	DYM	18	46906085	Missense_Mutation	SNP	C	TCGA-CJ-4904-01A-02D-1429-08		46906085	31171163	34	28182											
ZNF407	55628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72345031	72345031	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr18:72345031C>A	ENST00000299687.5	+	1	2056	c.2056C>A	c.(2056-2058)Cct>Act	p.P686T	ZNF407_ENST00000309902.6_Missense_Mutation_p.P686T|ZNF407_ENST00000577538.1_Missense_Mutation_p.P686T|ZNF407_ENST00000582337.1_Missense_Mutation_p.P686T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	686					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P686T(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TCAGGAAGAACCTCTGAAGTC	0.383																																																2	Substitution - Missense(2)	kidney(2)											60	60	60					18																	72345031		1862	4101	5963	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2056C>A	18.37:g.72345031C>A	ENSP00000299687:p.Pro686Thr		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	8.668	0.902095	0.17760	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.13538	2.58;3.24	5.76	2.85	0.33270	.	0.417714	0.15576	U	0.255194	T	0.10852	0.0265	L	0.55481	1.735	0.09310	N	1	B;P;B	0.41848	0.135;0.763;0.055	B;B;B	0.36608	0.022;0.229;0.014	T	0.25328	-1.0135	10	0.21540	T	0.41	.	5.0055	0.14286	0.1692:0.5158:0.2383:0.0767	.	686;686;686	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	T	686	ENSP00000299687:P686T;ENSP00000310359:P686T	ENSP00000299687:P686T	P	+	1	0	ZNF407	70474019	0.000000	0.05858	0.002000	0.10522	0.308000	0.27856	-0.467000	0.06664	-0.091000	0.12440	-1.241000	0.01538	CCT		0.383	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		A	72345031	C	A	72345031	3	1	527	1	0	0	0	0	1	0	0	0	17892	507	18	4	2058	4	ZNF407	18	72345031	Missense_Mutation	SNP	C	TCGA-CJ-4904-01A-02D-1429-08	25438946	72345031	5732217	35	28183											
ZNF236	7776	hgsc.bcm.edu;ucsc.edu	37	18	74624247	74624247	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr18:74624247delG	ENST00000253159.8	+	17	3045	c.2847delG	c.(2845-2847)cagfs	p.Q949fs	ZNF236_ENST00000320610.9_Frame_Shift_Del_p.Q951fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	949					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGGACCTGCAGGCACAAGGTT	0.473																																																0													69	69	69					18																	74624247		1937	4145	6082	SO:0001589	frameshift_variant	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2847delG	18.37:g.74624247delG	ENSP00000253159:p.Gln949fs		B2RTX9|Q9UL37	Frame_Shift_Del	DEL	ENST00000253159.8	37	CCDS42447.1																																																																																				0.473	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			-	74624247	G	-	74624247	7	5	527	1	0	1	0	1	0	0	0	0	17794	991	35	0	2913	0	ZNF236	18	74624247	Frame_Shift_Del	DEL	G	TCGA-CJ-4904-01A-02D-1429-08	2279216	74624247	3453001	36	28184											
NLRP8	126205	broad.mit.edu;hgsc.bcm.edu	37	19	56459316	56459316	+	Silent	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr19:56459316C>T	ENST00000291971.3	+	1	119	c.48C>T	c.(46-48)tcC>tcT	p.S16S	NLRP8_ENST00000590542.1_Silent_p.S16S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	16					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S16S(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCTTTTCATCCTCCTCCACTC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											248	196	213					19																	56459316		2203	4300	6503	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.48C>T	19.37:g.56459316C>T			Q7RTR4	Silent	SNP	ENST00000291971.3	37	CCDS12937.1																																																																																				0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56459316	C	T	56459316	2	4	527	1	0	0	0	0	0	0	0	1	10485	668	24	2		2	NLRP8	19	56459316	Silent	SNP	C	TCGA-CJ-4904-01A-02D-1429-08		56459316	2669667	37	28185											
TRIM28	10155	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	59057138	59057138	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr19:59057138C>G	ENST00000253024.5	+	3	750	c.461C>G	c.(460-462)aCt>aGt	p.T154S	TRIM28_ENST00000341753.6_Intron|RN7SL525P_ENST00000579267.1_RNA	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	154	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T154S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CAGTGCTGCACTAGCTGTGAG	0.527																																																1	Substitution - Missense(1)	kidney(1)											69	68	68					19																	59057138		2203	4299	6502	SO:0001583	missense	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.461C>G	19.37:g.59057138C>G	ENSP00000253024:p.Thr154Ser		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890425	0.72524	.	.	ENSG00000130726	ENST00000253024	T	0.40476	1.03	4.89	4.89	0.63831	Zinc finger, B-box (3);	0.000000	0.53938	D	0.000050	T	0.47764	0.1463	N	0.25060	0.705	0.80722	D	1	D	0.65815	0.995	D	0.64321	0.924	T	0.39800	-0.9596	10	0.33940	T	0.23	-23.9901	15.9183	0.79539	0.0:1.0:0.0:0.0	.	154	Q13263	TIF1B_HUMAN	S	154	ENSP00000253024:T154S	ENSP00000253024:T154S	T	+	2	0	TRIM28	63748950	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	3.652000	0.54439	2.432000	0.82394	0.558000	0.71614	ACT		0.527	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		G	59057138	C	G	59057138	3	3	527	1	0	0	0	0	1	0	0	0	16507	565	20	4	471	4	TRIM28	19	59057138	Missense_Mutation	SNP	C	TCGA-CJ-4904-01A-02D-1429-08	2597822	59057138	71845	38	28186											
TFAP2C	7022	hgsc.bcm.edu;ucsc.edu	37	20	55208541	55208541	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr20:55208541A>G	ENST00000201031.2	+	4	962	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	TFAP2C_ENST00000544508.1_Missense_Mutation_p.Y71C	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	240					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACGTCTAAATACAAAGTGACA	0.532																																																0													92	77	82					20																	55208541		2203	4300	6503	SO:0001583	missense	7022				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.719A>G	20.37:g.55208541A>G	ENSP00000201031:p.Tyr240Cys		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460996	0.84317	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	D;D	0.99080	-5.4;-5.4	5.93	5.93	0.95920	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98372	1.0554	10	0.87932	D	0	-13.2106	16.3829	0.83481	1.0:0.0:0.0:0.0	.	240	Q92754	AP2C_HUMAN	C	240;71	ENSP00000201031:Y240C;ENSP00000442274:Y71C	ENSP00000201031:Y240C	Y	+	2	0	TFAP2C	54641948	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.210000	0.95106	2.271000	0.75665	0.459000	0.35465	TAC		0.532	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		G	55208541	A	G	55208541	3	3	527	1	0	0	0	0	1	0	0	0	15794	391	14	3	733	3	TFAP2C	20	55208541	Missense_Mutation	SNP	A	TCGA-CJ-4904-01A-02D-1429-08		55208541	7816979	39	28187											
DSCAM	1826	hgsc.bcm.edu;ucsc.edu	37	21	41414412	41414412	+	Silent	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr21:41414412G>A	ENST00000400454.1	-	32	6049	c.5572C>T	c.(5572-5574)Ctg>Ttg	p.L1858L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1858					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGAGGTCAGACTGTCCGTG	0.527																																					Melanoma(134;970 1778 1785 21664 32388)											0													177	171	173					21																	41414412		2107	4221	6328	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5572C>T	21.37:g.41414412G>A			O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.527	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41414412	G	A	41414412	2	1	527	1	0	0	0	0	0	0	0	1	4770	933	33	2		2	DSCAM	21	41414412	Silent	SNP	G	TCGA-CJ-4904-01A-02D-1429-08		41414412	6715483	40	28188											
ELFN2	114794	broad.mit.edu	37	22	37770332	37770332	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr22:37770332C>T	ENST00000402918.2	-	3	2028	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	415					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.V415M(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CAGTAGTACACGGCTCCCAGC	0.607																																																1	Substitution - Missense(1)	kidney(1)											118	108	111					22																	37770332		2203	4300	6503	SO:0001583	missense	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1243G>A	22.37:g.37770332C>T	ENSP00000385277:p.Val415Met		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684663	0.47991	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.61510	0.1;0.1	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.77773	-0.2462	10	0.48119	T	0.1	-45.8313	18.0106	0.89222	0.0:1.0:0.0:0.0	.	415	Q5R3F8	PPR29_HUMAN	M	415	ENSP00000300147:V415M;ENSP00000385277:V415M	ENSP00000300147:V415M	V	-	1	0	ELFN2	36100278	1.000000	0.71417	0.732000	0.30844	0.377000	0.30045	7.730000	0.84881	2.235000	0.73313	0.609000	0.83330	GTG		0.607	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		T	37770332	C	T	37770332	3	4	527	1	0	0	0	0	1	0	0	0	5060	536	19	1	1223	1	ELFN2	22	37770332	Missense_Mutation	SNP	C	TCGA-CJ-4904-01A-02D-1429-08		37770332	13534234	41	28189											
CACNA1F	778	broad.mit.edu;hgsc.bcm.edu	37	X	49066823	49066823	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chrX:49066823G>A	ENST00000376265.2	-	39	4620	c.4559C>T	c.(4558-4560)aCg>aTg	p.T1520M	CACNA1F_ENST00000376251.1_Missense_Mutation_p.T1455M|CACNA1F_ENST00000323022.5_Missense_Mutation_p.T1509M	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1520					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T1520M(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAATGTCACCGTCCCATCTGA	0.537																																																1	Substitution - Missense(1)	kidney(1)											144	112	123					X																	49066823		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4559C>T	X.37:g.49066823G>A	ENSP00000365441:p.Thr1520Met		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879200	0.91740	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.90676	-2.71;-2.71;-2.71	5.6	5.6	0.85130	.	0.098392	0.64402	D	0.000002	D	0.95799	0.8633	M	0.84948	2.725	0.58432	D	0.999998	D;D	0.89917	1.0;0.991	D;P	0.91635	0.999;0.893	D	0.96279	0.9205	10	0.72032	D	0.01	.	17.253	0.87047	0.0:0.0:1.0:0.0	.	1509;1520	F5CIQ9;O60840	.;CAC1F_HUMAN	M	1455;1509;1520	ENSP00000365427:T1455M;ENSP00000321618:T1509M;ENSP00000365441:T1520M	ENSP00000321618:T1509M	T	-	2	0	CACNA1F	48953767	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	6.663000	0.74431	2.341000	0.79615	0.600000	0.82982	ACG		0.537	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		A	49066823	G	A	49066823	3	1	527	1	0	0	0	0	1	0	0	0	2545	1145	40	1	1414	1	CACNA1F	23	49066823	Missense_Mutation	SNP	G	TCGA-CJ-4904-01A-02D-1429-08		49066823	106203737	42	28190											
GUCY2F	2986	broad.mit.edu	37	X	108631719	108631719	+	Splice_Site	SNP	T	T	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chrX:108631719T>A	ENST00000218006.2	-	15	3246	c.2955A>T	c.(2953-2955)tcA>tcT	p.S985S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	985	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.S985S(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGTTATTACCTGAGTGAAGGC	0.458																																																1	Substitution - coding silent(1)	kidney(1)											124	116	119					X																	108631719		2203	4300	6503	SO:0001630	splice_region_variant	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2956+1A>T	X.37:g.108631719T>A			Q9UJF1	Silent	SNP	ENST00000218006.2	37	CCDS14545.1																																																																																				0.458	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	Silent	A	108631719	T	A	108631719	5	1	527	1	0	0	0	0	0	0	1	0	6900	1594	55	5	391	5	GUCY2F	23	108631719	Splice_Site	SNP	T	TCGA-CJ-4904-01A-02D-1429-08	59564896	108631719	46638841	43	28191											
CPSF3L	54973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1249171	1249171	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:1249171A>C	ENST00000435064.1	-	9	980	c.898T>G	c.(898-900)Ttt>Gtt	p.F300V	CPSF3L_ENST00000421495.2_Missense_Mutation_p.F42V|CPSF3L_ENST00000545578.1_Missense_Mutation_p.F271V|CPSF3L_ENST00000419704.1_Missense_Mutation_p.F199V|CPSF3L_ENST00000540437.1_Missense_Mutation_p.F306V|CPSF3L_ENST00000450926.2_Missense_Mutation_p.F278V|CPSF3L_ENST00000411962.1_Missense_Mutation_p.F202V|CPSF3L_ENST00000462432.1_5'UTR	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	300					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)	p.F300V(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TTGAACTCAAACATGTTCCTC	0.587																																																1	Substitution - Missense(1)	kidney(1)											189	141	158					1																	1249171		2202	4300	6502	SO:0001583	missense	54973			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.898T>G	1.37:g.1249171A>C	ENSP00000413493:p.Phe300Val		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	CCDS21.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800451	0.90538	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694	T;T;T;T;T;T	0.54675	0.67;0.67;0.67;0.67;0.56;0.67	5.26	5.26	0.73747	Beta-Casp domain (1);	0.107094	0.64402	D	0.000003	T	0.81173	0.4767	H	0.96398	3.815	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.993;0.996;0.997;0.995;0.993;0.996	D	0.87491	0.2427	10	0.87932	D	0	-20.5575	15.1815	0.72962	1.0:0.0:0.0:0.0	.	278;271;202;199;306;300	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	V	300;202;193;199;306;278;271;330	ENSP00000413493:F300V;ENSP00000404886:F199V;ENSP00000445001:F306V;ENSP00000392848:F278V;ENSP00000444672:F271V;ENSP00000411233:F330V	ENSP00000294579:F193V	F	-	1	0	CPSF3L	1239034	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	8.789000	0.91839	1.995000	0.58328	0.533000	0.62120	TTT		0.587	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		C	1249171	A	C	1249171	3	2	528	1	0	0	0	0	1	0	0	0	3829	43	2	5	940	5	CPSF3L	1	1249171	Missense_Mutation	SNP	A	TCGA-CJ-4905-01A-02D-1429-08		1249171	248001450	1	28192											
MIIP	60672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12081816	12081816	+	Silent	SNP	G	G	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:12081816G>T	ENST00000235332.4	+	2	202	c.33G>T	c.(31-33)cgG>cgT	p.R11R	MIIP_ENST00000436478.2_Silent_p.R11R|Y_RNA_ENST00000365591.1_RNA	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	11								p.R11R(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CACAGCTGCGGCTGCTCAATC	0.677																																																1	Substitution - coding silent(1)	kidney(1)											31	29	30					1																	12081816		2200	4298	6498	SO:0001819	synonymous_variant	60672			AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"invasion inhibitory protein 45"	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.33G>T	1.37:g.12081816G>T			C0KL22|Q96HU6|Q9H839|Q9HA00	Silent	SNP	ENST00000235332.4	37	CCDS143.1																																																																																				0.677	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		T	12081816	G	T	12081816	2	4	528	1	0	0	0	0	0	0	0	1	9587	1190	42	4		4	MIIP	1	12081816	Silent	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	10832645	12081816	237168805	2	28193											
UBXN10	127733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20517187	20517187	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:20517187C>T	ENST00000375099.3	+	2	217	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	45								p.R45W(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CGCCAAGGGACGGACAAGACC	0.537																																																1	Substitution - Missense(1)	kidney(1)											98	85	89					1																	20517187		2203	4300	6503	SO:0001583	missense	127733			AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"UBX domain containing"	26354	protein-coding gene	gene with protein product			"UBX domain containing 3"	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.133C>T	1.37:g.20517187C>T	ENSP00000364240:p.Arg45Trp		Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	CCDS205.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913432	0.72983	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000015	T	0.78910	0.4358	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81335	-0.0979	9	0.87932	D	0	-18.0001	17.361	0.87350	0.0:1.0:0.0:0.0	.	45	Q96LJ8	UBX10_HUMAN	W	45	.	ENSP00000364240:R45W	R	+	1	2	UBXN10	20389774	1.000000	0.71417	0.879000	0.34478	0.443000	0.32047	5.162000	0.64942	2.444000	0.82710	0.655000	0.94253	CGG		0.537	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		T	20517187	C	T	20517187	3	4	528	1	0	0	0	0	1	0	0	0	16917	527	19	1	135	1	UBXN10	1	20517187	Missense_Mutation	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	8435371	20517187	228733434	3	28194											
CFH	3075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	196642242	196642242	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:196642242G>A	ENST00000359637.2	+	2	255	c.193G>A	c.(193-195)Gta>Ata	p.V65I	CFH_ENST00000367429.4_Missense_Mutation_p.V65I|CFH_ENST00000439155.2_Missense_Mutation_p.V65I|CFH_ENST00000496761.1_3'UTR			P08603	CFAH_HUMAN	complement factor H	128	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.V65I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTAATAATGGTATGCAGGAA	0.378																																																1	Substitution - Missense(1)	kidney(1)											82	88	86					1																	196642242		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.193G>A	1.37:g.196642242G>A	ENSP00000352658:p.Val65Ile		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37		.	.	.	.	.	.	.	.	.	.	G	12.51	1.958425	0.34565	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.66280	-0.2;-0.2;-0.2	5.12	0.948	0.19561	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.39226	0.1070	L	0.34521	1.04	0.09310	N	1	B;P;B;B	0.45126	0.255;0.851;0.255;0.026	B;B;B;B	0.35470	0.048;0.203;0.048;0.022	T	0.18650	-1.0330	9	0.19590	T	0.45	.	3.7749	0.08656	0.3238:0.1831:0.4931:0.0	.	65;65;65;65	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	I	65	ENSP00000356399:V65I;ENSP00000402656:V65I;ENSP00000352658:V65I	ENSP00000352658:V65I	V	+	1	0	CFH	194908865	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.550000	0.06034	0.145000	0.18977	0.561000	0.74099	GTA		0.378	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		A	196642242	G	A	196642242	3	1	528	1	0	0	0	0	1	0	0	0	3285	1261	44	2	199	2	CFH	1	196642242	Missense_Mutation	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	176125055	196642242	52608379	4	28195											
SDCCAG8	10806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	243581274	243581274	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:243581274T>A	ENST00000366541.3	+	15	1867	c.1749T>A	c.(1747-1749)aaT>aaA	p.N583K	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.N540K|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.N438K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	583	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.N583K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTCTAGAAAATGAACAGTATT	0.373																																																1	Substitution - Missense(1)	kidney(1)											99	100	100					1																	243581274		2203	4300	6503	SO:0001583	missense	10806			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1749T>A	1.37:g.243581274T>A	ENSP00000355499:p.Asn583Lys		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857533	0.51376	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783	T;T;T	0.45276	0.97;0.9;0.95	6.01	4.86	0.63082	.	0.382752	0.28499	N	0.015121	T	0.22551	0.0544	N	0.19112	0.55	0.35497	D	0.799445	B	0.17667	0.023	B	0.21917	0.037	T	0.18304	-1.0341	10	0.11182	T	0.66	-2.9368	4.0585	0.09827	0.1278:0.0673:0.1339:0.6711	.	583	Q86SQ7	SDCG8_HUMAN	K	540;583;438	ENSP00000348137:N540K;ENSP00000355499:N583K;ENSP00000341260:N438K	ENSP00000341260:N438K	N	+	3	2	SDCCAG8	241647897	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.649000	0.37281	1.064000	0.40671	0.528000	0.53228	AAT		0.373	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		A	243581274	T	A	243581274	3	1	528	1	0	0	0	0	1	0	0	0	13965	1461	51	5	1807	5	SDCCAG8	1	243581274	Missense_Mutation	SNP	T	TCGA-CJ-4905-01A-02D-1429-08	46939032	243581274	5669347	5	28196											
PXDN	7837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1653137	1653137	+	Silent	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:1653137C>T	ENST00000252804.4	-	17	2465	c.2415G>A	c.(2413-2415)acG>acA	p.T805T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	805					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.T805T(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGACGGTCTCCGTCCCGATCA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											61	71	68					2																	1653137		2159	4259	6418	SO:0001819	synonymous_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2415G>A	2.37:g.1653137C>T			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1																																																																																				0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		T	1653137	C	T	1653137	2	4	528	1	0	0	0	0	0	0	0	1	12853	639	23	1		1	PXDN	2	1653137	Silent	SNP	C	TCGA-CJ-4905-01A-02D-1429-08		1653137	241546236	6	28197											
NEB	4703	broad.mit.edu;hgsc.bcm.edu	37	2	152397301	152397301	+	Silent	SNP	T	T	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:152397301T>C	ENST00000172853.10	-	109	15741	c.15594A>G	c.(15592-15594)gaA>gaG	p.E5198E	NEB_ENST00000604864.1_Silent_p.E6899E|NEB_ENST00000409198.1_Silent_p.E5198E|NEB_ENST00000427231.2_Silent_p.E6899E|NEB_ENST00000397345.3_Silent_p.E6899E|NEB_ENST00000603639.1_Silent_p.E6899E			P20929	NEBU_HUMAN	nebulin	5198					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E6899E(1)|p.E5198E(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGTGGCAAGTTCAACATACA	0.418																																																2	Substitution - coding silent(2)	kidney(2)											141	136	138					2																	152397301		2037	4189	6226	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15594A>G	2.37:g.152397301T>C			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		C	152397301	T	C	152397301	2	2	528	1	0	0	0	0	0	0	0	1	10304	1722	60	3		3	NEB	2	152397301	Silent	SNP	T	TCGA-CJ-4905-01A-02D-1429-08	150744164	152397301	90802072	7	28198											
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170011038	170011038	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:170011038T>G	ENST00000263816.3	-	66	12512	c.12227A>C	c.(12226-12228)gAg>gCg	p.E4076A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4076					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E4076A(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTGAAGATACTCTGAGAACCT	0.393																																																1	Substitution - Missense(1)	kidney(1)											90	91	90					2																	170011038		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12227A>C	2.37:g.170011038T>G	ENSP00000263816:p.Glu4076Ala		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573681	0.45902	.	.	ENSG00000081479	ENST00000263816	D	0.90844	-2.74	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.146397	0.64402	D	0.000013	D	0.84593	0.5506	L	0.36672	1.1	0.80722	D	1	B	0.31910	0.346	B	0.27608	0.081	T	0.82106	-0.0621	10	0.11485	T	0.65	.	15.9763	0.80066	0.0:0.0:0.0:1.0	.	4076	P98164	LRP2_HUMAN	A	4076	ENSP00000263816:E4076A	ENSP00000263816:E4076A	E	-	2	0	LRP2	169719284	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.093000	0.71422	2.151000	0.67156	0.533000	0.62120	GAG		0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		G	170011038	T	G	170011038	3	3	528	1	0	0	0	0	1	0	0	0	8958	1551	54	5	1796	5	LRP2	2	170011038	Missense_Mutation	SNP	T	TCGA-CJ-4905-01A-02D-1429-08	17613737	170011038	73188335	8	28199											
TTN	7273	broad.mit.edu;ucsc.edu	37	2	179479674	179479674	+	Silent	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:179479674C>T	ENST00000591111.1	-	210	43961	c.43737G>A	c.(43735-43737)gaG>gaA	p.E14579E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.E13652E|TTN_ENST00000359218.5_Silent_p.E7280E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.E7347E|TTN_ENST00000589042.1_Silent_p.E16220E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.E7155E|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14579	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E13652E(2)|p.E7280E(1)|p.E7155E(1)|p.E7347E(1)		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)			ATTTGccttcctcaagacctg	0.443																																																5	Substitution - coding silent(5)	kidney(5)											103	93	96					2																	179479674		1930	4144	6074	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43737G>A	2.37:g.179479674C>T			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179479674	C	T	179479674	2	4	528	1	0	0	0	0	0	0	0	1	16740	680	24	2		2	TTN	2	179479674	Silent	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	9468636	179479674	63719699	9	28200											
SSFA2	6744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	182757372	182757372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:182757372G>A	ENST00000431877.2	+	2	421	c.242G>A	c.(241-243)tGg>tAg	p.W81*	RP11-366L5.1_ENST00000567327.1_RNA|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.W81*|SSFA2_ENST00000428267.2_5'UTR|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.W81*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	81						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.W81*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATCGCGATATGGCTCAAGGAC	0.682																																																1	Substitution - Nonsense(1)	kidney(1)											116	95	102					2																	182757372		2203	4300	6503	SO:0001587	stop_gained	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.242G>A	2.37:g.182757372G>A	ENSP00000388731:p.Trp81*		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Nonsense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	39	7.469860	0.98302	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001	.	.	.	5.17	5.17	0.71159	.	0.065780	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6292	15.3911	0.74744	0.0:0.0:1.0:0.0	.	.	.	.	X	81	.	ENSP00000314669:W81X	W	+	2	0	SSFA2	182465617	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.752000	0.68728	2.410000	0.81850	0.655000	0.94253	TGG		0.682	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		A	182757372	G	A	182757372	4	1	528	1	0	0	0	0	0	1	0	0	15188	1357	47	2	248	2	SSFA2	2	182757372	Nonsense_Mutation	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	3277698	182757372	60442001	10	28201											
RPE	6120	hgsc.bcm.edu	37	2	210874384	210874384	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:210874384delT	ENST00000359429.6	+	2	223	c.126delT	c.(124-126)catfs	p.H42fs	RPE_ENST00000429907.1_5'UTR|RPE_ENST00000454822.1_Intron|RPE_ENST00000452025.1_Frame_Shift_Del_p.H42fs|RPE_ENST00000540255.1_Frame_Shift_Del_p.H42fs|RPE_ENST00000411934.2_Intron|RPE_ENST00000435437.2_Frame_Shift_Del_p.H42fs|RPE_ENST00000445268.1_Intron|RPE_ENST00000354506.6_Intron|RPE_ENST00000438204.2_Intron|RPE_ENST00000436630.2_5'UTR|RPE_ENST00000429921.1_Intron	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	42					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		CTTGTAGGCATTTTGTTCCCA	0.433																																																0													273	283	280					2																	210874384		2203	4300	6503	SO:0001589	frameshift_variant	6120				CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.126delT	2.37:g.210874384delT	ENSP00000352401:p.His42fs		A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Frame_Shift_Del	DEL	ENST00000359429.6	37	CCDS2388.1																																																																																				0.433	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916		-	210874384	T	-	210874384	7	5	528	1	0	1	0	1	0	0	0	0	13550	1490	52	0	132	0	RPE	2	210874384	Frame_Shift_Del	DEL	T	TCGA-CJ-4905-01A-02D-1429-08	28117012	210874384	32324989	11	28202											
CDCP1	64866	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	45134910	45134910	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr3:45134910C>G	ENST00000296129.1	-	6	1620	c.1486G>C	c.(1486-1488)Ggc>Cgc	p.G496R		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	496	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G496R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CAGAAGGAGCCGAAGTACAGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											91	82	85					3																	45134910		2203	4300	6503	SO:0001583	missense	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1486G>C	3.37:g.45134910C>G	ENSP00000296129:p.Gly496Arg		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883879	0.72410	.	.	ENSG00000163814	ENST00000296129	T	0.69435	-0.4	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83070	-0.0143	10	0.87932	D	0	.	18.0194	0.89251	0.0:1.0:0.0:0.0	.	496	Q9H5V8	CDCP1_HUMAN	R	496	ENSP00000296129:G496R	ENSP00000296129:G496R	G	-	1	0	CDCP1	45109914	0.997000	0.39634	0.968000	0.41197	0.483000	0.33249	5.019000	0.64060	2.695000	0.91970	0.561000	0.74099	GGC		0.597	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		G	45134910	C	G	45134910	3	3	528	1	0	0	0	0	1	0	0	0	3095	652	23	4	1040	4	CDCP1	3	45134910	Missense_Mutation	SNP	C	TCGA-CJ-4905-01A-02D-1429-08		45134910	152887520	12	28203											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52713608	52713614	+	Frame_Shift_Del	DEL	ATTGGAA	ATTGGAA	-	rs529388126		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	ATTGGAA	ATTGGAA	ATTGGAA	-	ATTGGAA	ATTGGAA	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr3:52713608_52713614delATTGGAA	ENST00000296302.7	-	1	115_121	c.114_120delTTCCAAT	c.(112-120)ctttccaatfs	p.LSN38fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.LSN38fs			Q86U86	PB1_HUMAN	polybromo 1	38					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGTTGGAAGATTGGAAAGTCTCCTCC	0.473			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.114_120delTTCCAAT	3.37:g.52713608_52713614delATTGGAA	ENSP00000296302:p.Leu38fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.473	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52713614	ATTGGAA	-	52713608	7	5	528	1	0	1	0	1	0	0	0	0	11493	330	12	0	4900	0	PBRM1	3	52713608	Frame_Shift_Del	DEL	ATTGGAA	TCGA-CJ-4905-01A-02D-1429-08	7578698	52713608	145308822	13	28204											
BOC	91653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	112969403	112969403	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr3:112969403C>T	ENST00000495514.1	+	4	803	c.99C>T	c.(97-99)aaC>aaT	p.N33N	BOC_ENST00000484034.1_Splice_Site_p.N33N|BOC_ENST00000355385.3_Splice_Site_p.N33N|BOC_ENST00000273395.4_Splice_Site_p.N33N|BOC_ENST00000485230.1_Splice_Site_p.N33N			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	33					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.N33N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TTCCTCCAGACGAGGTCCCTC	0.552																																																1	Substitution - coding silent(1)	kidney(1)											83	81	82					3																	112969403		2203	4300	6503	SO:0001630	splice_region_variant	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.98-1C>T	3.37:g.112969403C>T			A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	CCDS2971.1																																																																																				0.552	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	Silent	T	112969403	C	T	112969403	5	4	528	1	0	0	0	0	0	0	1	0	1481	550	19	1	105	1	BOC	3	112969403	Splice_Site	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	60255795	112969403	85053027	14	28205											
FAM162A	26355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122123119	122123119	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr3:122123119G>A	ENST00000477892.1	+	3	256	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	FAM162A_ENST00000232125.5_Missense_Mutation_p.V48M|FAM162A_ENST00000469967.1_Missense_Mutation_p.V58M	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	58					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.V58M(2)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TTACAACAGAGTGCCTTTACA	0.373																																																2	Substitution - Missense(2)	kidney(2)											80	76	77					3																	122123119		1850	4078	5928	SO:0001583	missense	26355			AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"chromosome 3 open reading frame 28"	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.172G>A	3.37:g.122123119G>A	ENSP00000419088:p.Val58Met		Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	CCDS43139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.131030|4.131030	0.77549|0.77549	.|.	.|.	ENSG00000114023|ENSG00000114023	ENST00000440333|ENST00000232125;ENST00000477892;ENST00000469967	.|T;T;T	.|0.34072	.|1.38;1.38;1.38	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|1.050910	.|0.07434	.|N	.|0.896170	T|T	0.66655|0.66655	0.2811|0.2811	M|M	0.82517|0.82517	2.595|2.595	0.36383|0.36383	D|D	0.862051|0.862051	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.75020	.|0.985;0.964	T|T	0.62039|0.62039	-0.6938|-0.6938	6|10	0.27785|0.62326	T|D	0.31|0.03	.|.	15.093|15.093	0.72211|0.72211	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|58;58	.|E9PH05;Q96A26	.|.;F162A_HUMAN	N|M	58|48;58;58	.|ENSP00000232125:V48M;ENSP00000419088:V58M;ENSP00000419491:V58M	ENSP00000405770:S58N|ENSP00000232125:V48M	S|V	+|+	2|1	0|0	FAM162A|FAM162A	123605809|123605809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	3.965000|3.965000	0.56788|0.56788	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.373	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		A	122123119	G	A	122123119	3	1	528	1	0	0	0	0	1	0	0	0	5476	1029	36	2	182	2	FAM162A	3	122123119	Missense_Mutation	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	9153716	122123119	75899311	15	28206											
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130300584	130300584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr3:130300584delG	ENST00000358511.6	+	8	3758	c.3727delG	c.(3727-3729)gtgfs	p.V1243fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.V1243fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1243	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGCTTTTCAAGTGACCAATGC	0.433																																																0													99	98	99					3																	130300584		1993	4160	6153	SO:0001589	frameshift_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3727delG	3.37:g.130300584delG	ENSP00000351310:p.Val1243fs		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	CCDS46911.1																																																																																				0.433	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		-	130300584	G	-	130300584	7	5	528	1	0	1	0	1	0	0	0	0	3705	1029	36	0	3757	0	COL6A6	3	130300584	Frame_Shift_Del	DEL	G	TCGA-CJ-4905-01A-02D-1429-08	8177465	130300584	67721846	16	28207											
YTHDC1	91746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	69188621	69188621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr4:69188621C>A	ENST00000344157.4	-	11	1782	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.E483*|YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.E465*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	483	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E483*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GTTCCACATTCAAGTTCAATT	0.373																																																1	Substitution - Nonsense(1)	kidney(1)											72	76	74					4																	69188621		2203	4300	6503	SO:0001587	stop_gained	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1447G>T	4.37:g.69188621C>A	ENSP00000339245:p.Glu483*		Q4W5Q3|Q7Z622|Q8TF35	Nonsense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	39	7.300097	0.98196	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	6.06	6.06	0.98353	.	0.090653	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	483;465	.	ENSP00000339245:E483X	E	-	1	0	YTHDC1	68871216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.431000	0.66507	2.880000	0.98712	0.650000	0.86243	GAA		0.373	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		A	69188621	C	A	69188621	4	1	528	1	0	0	0	0	0	1	0	0	17501	835	29	4	764	4	YTHDC1	4	69188621	Nonsense_Mutation	SNP	C	TCGA-CJ-4905-01A-02D-1429-08		69188621	121965655	17	28208											
ABCE1	6059	broad.mit.edu;hgsc.bcm.edu	37	4	146041212	146041212	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr4:146041212C>A	ENST00000296577.4	+	11	1566	c.1051C>A	c.(1051-1053)Cca>Aca	p.P351T	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	351	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)	p.P351T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTATAAATATCCAGGAATGAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											68	73	72					4																	146041212		2203	4298	6501	SO:0001583	missense	6059			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1051C>A	4.37:g.146041212C>A	ENSP00000296577:p.Pro351Thr		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425011	0.83667	.	.	ENSG00000164163	ENST00000296577	D	0.94457	-3.43	5.31	5.31	0.75309	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.95859	0.8652	L	0.48642	1.525	0.80722	D	1	D	0.63880	0.993	D	0.64687	0.928	D	0.95048	0.8184	10	0.39692	T	0.17	-10.3809	19.3284	0.94273	0.0:1.0:0.0:0.0	.	351	P61221	ABCE1_HUMAN	T	351	ENSP00000296577:P351T	ENSP00000296577:P351T	P	+	1	0	ABCE1	146260662	1.000000	0.71417	0.953000	0.39169	0.996000	0.88848	7.783000	0.85696	2.623000	0.88846	0.555000	0.69702	CCA		0.353	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		A	146041212	C	A	146041212	3	1	528	1	0	0	0	0	1	0	0	0	64	855	30	4	1089	4	ABCE1	4	146041212	Missense_Mutation	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	76852591	146041212	45113064	18	28209											
POLR3G	10622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89781415	89781415	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr5:89781415G>A	ENST00000399107.1	+	2	231	c.31G>A	c.(31-33)Gct>Act	p.A11T	POLR3G_ENST00000504930.1_Missense_Mutation_p.A11T|POLR3G_ENST00000514483.1_Missense_Mutation_p.A11T	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	11					cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)	p.A11T(1)		cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		AGGACGTGCTGCTTATACCTT	0.398																																																1	Substitution - Missense(1)	kidney(1)											133	121	125					5																	89781415		1875	4102	5977	SO:0001583	missense	10622			U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"RNA polymerase subunits"	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.31G>A	5.37:g.89781415G>A	ENSP00000382058:p.Ala11Thr		A8MTH0	Missense_Mutation	SNP	ENST00000399107.1	37	CCDS43337.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300560	0.81136	.	.	ENSG00000113356	ENST00000512239;ENST00000505345;ENST00000503373;ENST00000503973;ENST00000399107;ENST00000504930;ENST00000514483	.	.	.	5.41	4.49	0.54785	.	0.152828	0.56097	D	0.000031	T	0.54806	0.1881	L	0.28274	0.84	0.37906	D	0.931204	D	0.67145	0.996	P	0.61070	0.883	T	0.55289	-0.8164	9	0.33940	T	0.23	-26.9892	14.256	0.66053	0.0:0.0:0.7993:0.2006	.	11	O15318	RPC7_HUMAN	T	11	.	ENSP00000382058:A11T	A	+	1	0	POLR3G	89817171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.664000	0.46783	2.697000	0.92050	0.563000	0.77884	GCT		0.398	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370462.1	NM_006467		A	89781415	G	A	89781415	3	1	528	1	0	0	0	0	1	0	0	0	12236	1319	46	2	33	2	POLR3G	5	89781415	Missense_Mutation	SNP	G	TCGA-CJ-4905-01A-02D-1429-08		89781415	91133845	19	28210											
ANKHD1	54882	hgsc.bcm.edu;ucsc.edu	37	5	139864742	139864743	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr5:139864742_139864743delAT	ENST00000360839.2	+	12	2061_2062	c.1907_1908delAT	c.(1906-1908)catfs	p.H636fs	ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.H636fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.H636fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	636						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAATGATCATACAGTAGTGT	0.45																																																0																																										SO:0001589	frameshift_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1907_1908delAT	5.37:g.139864742_139864743delAT	ENSP00000354085:p.His636fs		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	CCDS4225.1																																																																																				0.45	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		-	139864743	AT	-	139864742	7	5	528	1	0	1	0	1	0	0	0	0	628	217	8	0	2059	0	ANKHD1	5	139864742	Frame_Shift_Del	DEL	AT	TCGA-CJ-4905-01A-02D-1429-08	50083327	139864742	41050518	20	28211											
SLC36A1	206358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150853235	150853235	+	Splice_Site	SNP	G	G	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr5:150853235G>C	ENST00000243389.3	+	8	948	c.725G>C	c.(724-726)aGg>aCg	p.R242T	SLC36A1_ENST00000520701.1_Splice_Site_p.R242T|SLC36A1_ENST00000521925.1_Splice_Site_p.R242T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	242					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.R242T(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GTCTTTCAGAGGATCCCAGAC	0.438																																					Melanoma(151;1534 1860 12947 32979 37872)											1	Substitution - Missense(1)	kidney(1)											170	186	181					5																	150853235		2203	4300	6503	SO:0001630	splice_region_variant	206358			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.724-1G>C	5.37:g.150853235G>C			C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858744	0.32884	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.29917	4.36;4.36;4.36;1.55	5.34	-0.0178	0.13967	.	1.449150	0.03667	N	0.243407	T	0.15869	0.0382	N	0.03000	-0.44	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.25759	0.007;0.063	T	0.29852	-0.9998	10	0.51188	T	0.08	.	6.4465	0.21879	0.5372:0.1315:0.3312:0.0	.	242;242	E7EW39;Q7Z2H8	.;S36A1_HUMAN	T	242;242;242;242;1	ENSP00000428140:R242T;ENSP00000243389:R242T;ENSP00000430305:R242T;ENSP00000428738:R1T	ENSP00000243389:R242T	R	+	2	0	SLC36A1	150833428	0.893000	0.30496	0.078000	0.20375	0.938000	0.57974	1.696000	0.37773	-0.348000	0.08286	0.655000	0.94253	AGG		0.438	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483	Missense_Mutation	C	150853235	G	C	150853235	5	2	528	1	0	0	0	0	0	0	1	0	14599	1014	35	4	751	4	SLC36A1	5	150853235	Splice_Site	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	10988493	150853235	30062025	21	28212											
DTNBP1	84062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	15615585	15615585	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr6:15615585T>G	ENST00000344537.5	-	6	573	c.401A>C	c.(400-402)cAt>cCt	p.H134P	DTNBP1_ENST00000355917.3_Missense_Mutation_p.H134P|DTNBP1_ENST00000338950.5_Missense_Mutation_p.H134P	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	134					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)		p.H134P(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GTCTTCCAGATGCAGCAGGTT	0.383									Hermansky-Pudlak syndrome																																							2	Substitution - Missense(2)	kidney(2)											132	127	129					6																	15615585		2203	4300	6503	SO:0001583	missense	84062	Familial Cancer Database	HPS, HPS1-8	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"Biogenesis of lysosomal organelles complex-1 subunits"	17328	protein-coding gene	gene with protein product	"dysbindin-1", "biogenesis of lysosomal organelles complex-1, subunit 8"	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.401A>C	6.37:g.15615585T>G	ENSP00000341680:p.His134Pro		A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253345	0.39797	.	.	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000397306;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.30182	1.55;1.55;1.54	5.6	5.6	0.85130	.	0.203334	0.34507	N	0.003907	T	0.14960	0.0361	L	0.44542	1.39	0.29473	N	0.856903	B;B;B	0.31581	0.329;0.216;0.275	B;B;B	0.34346	0.18;0.18;0.086	T	0.09796	-1.0658	10	0.28530	T	0.3	.	14.7559	0.69564	0.0:0.0:0.0:1.0	.	134;134;134	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	P	134;134;53;99;134;134	ENSP00000341680:H134P;ENSP00000348183:H134P;ENSP00000344718:H134P	ENSP00000344718:H134P	H	-	2	0	DTNBP1	15723564	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.245000	0.43133	2.126000	0.65437	0.533000	0.62120	CAT		0.383	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		G	15615585	T	G	15615585	3	3	528	1	0	0	0	0	1	0	0	0	4792	1464	51	5	775	5	DTNBP1	6	15615585	Missense_Mutation	SNP	T	TCGA-CJ-4905-01A-02D-1429-08		15615585	155499482	22	28213											
TULP1	7287	broad.mit.edu;hgsc.bcm.edu	37	6	35479476	35479476	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr6:35479476G>T	ENST00000229771.6	-	4	377	c.298C>A	c.(298-300)Cgc>Agc	p.R100S	TULP1_ENST00000322263.4_Intron	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	100					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R100S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CGGGGGTCGCGCTTCTTGGCC	0.726																																					GBM(55;1027 1091 11115 23439)											1	Substitution - Missense(1)	kidney(1)											11	13	12					6																	35479476		2192	4292	6484	SO:0001583	missense	7287			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.298C>A	6.37:g.35479476G>T	ENSP00000229771:p.Arg100Ser		O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014922	0.35511	.	.	ENSG00000112041	ENST00000229771	T	0.80738	-1.41	4.36	4.36	0.52297	.	0.680225	0.12099	N	0.499677	T	0.57636	0.2067	L	0.47716	1.5	0.32910	D	0.514429	P	0.37276	0.589	B	0.32090	0.14	T	0.49194	-0.8965	10	0.15499	T	0.54	-9.9113	12.2508	0.54597	0.0:0.0:1.0:0.0	.	100	O00294	TULP1_HUMAN	S	100	ENSP00000229771:R100S	ENSP00000229771:R100S	R	-	1	0	TULP1	35587454	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	2.103000	0.41806	2.233000	0.73108	0.491000	0.48974	CGC		0.726	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			T	35479476	G	T	35479476	3	4	528	1	0	0	0	0	1	0	0	0	16778	1087	38	4	1378	4	TULP1	6	35479476	Missense_Mutation	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	19863891	35479476	135635591	23	28214											
PHIP	55023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	79650693	79650693	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr6:79650693T>G	ENST00000275034.4	-	40	5350	c.5183A>C	c.(5182-5184)gAt>gCt	p.D1728A	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1728					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.D1728A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GACTAGGAGATCTGCATCTAA	0.373																																																1	Substitution - Missense(1)	kidney(1)											240	231	234					6																	79650693		2203	4300	6503	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5183A>C	6.37:g.79650693T>G	ENSP00000275034:p.Asp1728Ala		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	3.219	-0.159922	0.06502	.	.	ENSG00000146247	ENST00000275034	T	0.40756	1.02	6.07	4.91	0.64330	.	0.132696	0.52532	D	0.000073	T	0.12646	0.0307	N	0.19112	0.55	0.36677	D	0.878838	B;B	0.25667	0.131;0.131	B;B	0.25140	0.058;0.058	T	0.07347	-1.0777	9	.	.	.	-10.3095	11.4356	0.50066	0.0:0.0699:0.0:0.9301	.	1728;1728	A7J992;Q8WWQ0	.;PHIP_HUMAN	A	1728	ENSP00000275034:D1728A	.	D	-	2	0	PHIP	79707412	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	1.677000	0.37576	1.121000	0.41925	0.528000	0.53228	GAT		0.373	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			G	79650693	T	G	79650693	3	3	528	1	0	0	0	0	1	0	0	0	11844	1435	50	5	286	5	PHIP	6	79650693	Missense_Mutation	SNP	T	TCGA-CJ-4905-01A-02D-1429-08	44171217	79650693	91464374	24	28215											
SPAM1	6677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A	rs267601263	byFrequency	TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr7:123595133G>A	ENST00000439500.1	+	5	1650	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000340011.5_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTATAATGCGAAGTATGGTA	0.338													G|||	3	0.000599042	0.0	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.0031															2	Substitution - Missense(2)	kidney(2)											180	178	179					7																	123595133		2203	4300	6503	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1037G>A	7.37:g.123595133G>A	ENSP00000402123:p.Arg346Gln		Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	3.242	-0.155130	0.06544	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	6.02	-5.2	0.02823	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	1.225540	0.05401	N	0.540781	T	0.06917	0.0176	N	0.05574	-0.02	0.09310	N	1	B;B	0.25441	0.126;0.126	B;B	0.19148	0.024;0.024	T	0.30679	-0.9970	10	0.02654	T	1	0.1267	4.9752	0.14136	0.5751:0.0883:0.2412:0.0954	.	346;346	Q8TC30;P38567	.;HYALP_HUMAN	Q	346	ENSP00000386028:R346Q;ENSP00000417934:R346Q;ENSP00000345849:R346Q;ENSP00000402123:R346Q;ENSP00000223028:R346Q	ENSP00000223028:R346Q	R	+	2	0	SPAM1	123382369	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.544000	0.02192	-1.001000	0.03434	-0.145000	0.13849	CGA		0.338	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			A	123595133	G	A	123595133	3	1	528	1	0	0	0	0	1	0	0	0	14992	1058	37	1	1043	1	SPAM1	7	123595133	Missense_Mutation	SNP	G	TCGA-CJ-4905-01A-02D-1429-08		123595133	35543530	25	28216											
SLC7A13	157724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87229763	87229763	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr8:87229763A>G	ENST00000297524.3	-	3	1218	c.1115T>C	c.(1114-1116)aTa>aCa	p.I372T	SLC7A13_ENST00000520624.1_5'Flank|SLC7A13_ENST00000419776.2_Missense_Mutation_p.I363T	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	372						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.I372T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CATTAATAATATAGACCATAA	0.323																																																1	Substitution - Missense(1)	kidney(1)											31	37	35					8																	87229763		2193	4292	6485	SO:0001583	missense	157724			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1115T>C	8.37:g.87229763A>G	ENSP00000297524:p.Ile372Thr		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.377032	0.24857	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90563	-2.69;-2.69	5.03	-6.7	0.01766	.	1.867780	0.03199	N	0.174539	T	0.74504	0.3725	N	0.01874	-0.695	0.09310	N	1	B;B	0.17038	0.01;0.02	B;B	0.12156	0.005;0.007	T	0.66272	-0.5965	10	0.62326	D	0.03	.	7.7772	0.29043	0.238:0.4415:0.3205:0.0	.	363;372	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	T	372;363	ENSP00000297524:I372T;ENSP00000410982:I363T	ENSP00000297524:I372T	I	-	2	0	SLC7A13	87298879	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.570000	0.05895	-0.866000	0.04068	0.528000	0.53228	ATA		0.323	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		G	87229763	A	G	87229763	3	3	528	1	0	0	0	0	1	0	0	0	14701	449	16	3	305	3	SLC7A13	8	87229763	Missense_Mutation	SNP	A	TCGA-CJ-4905-01A-02D-1429-08		87229763	59134259	26	28217											
RANBP6	26953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	6014375	6014375	+	Silent	SNP	G	G	A	rs146563217	byFrequency	TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr9:6014375G>A	ENST00000259569.5	-	1	1243	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	411					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S411S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AAAGCAAAACGGAGTTAACTG	0.433													G|||	6	0.00119808	0.0	0.0	5008	,	,		22944	0.006		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											70	71	71					9																	6014375		2203	4300	6503	SO:0001819	synonymous_variant	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1233C>T	9.37:g.6014375G>A			Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	CCDS6467.1																																																																																				0.433	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		A	6014375	G	A	6014375	2	1	528	1	0	0	0	0	0	0	0	1	13037	1103	39	1		1	RANBP6	9	6014375	Silent	SNP	G	TCGA-CJ-4905-01A-02D-1429-08		6014375	135199056	27	28218											
C10orf18	54906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5790452	5790452	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr10:5790452A>C	ENST00000328090.5	+	15	5693	c.5068A>C	c.(5068-5070)Atg>Ctg	p.M1690L		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1690								p.M1690L(1)									AGCAGGCAGAATGGCCAGTTT	0.463																																																1	Substitution - Missense(1)	kidney(1)											57	59	59					10																	5790452		2141	4256	6397	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5068A>C	10.37:g.5790452A>C	ENSP00000328426:p.Met1690Leu		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	7.471	0.646714	0.14516	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04360	3.64	5.23	5.23	0.72850	.	0.486069	0.20757	N	0.086224	T	0.04227	0.0117	N	0.24115	0.695	0.09310	N	1	P	0.38767	0.646	B	0.36464	0.225	T	0.45145	-0.9281	10	0.29301	T	0.29	.	12.647	0.56740	1.0:0.0:0.0:0.0	.	1690	Q5VWN6	F208B_HUMAN	L	1690;885	ENSP00000328426:M1690L	ENSP00000328426:M1690L	M	+	1	0	C10orf18	5830458	0.896000	0.30565	0.241000	0.24154	0.013000	0.08279	1.529000	0.35996	1.978000	0.57642	0.460000	0.39030	ATG		0.463	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		C	5790452	A	C	5790452	3	2	528	1	0	0	0	0	1	0	0	0	1598	101	4	5	5114	5	C10orf18	10	5790452	Missense_Mutation	SNP	A	TCGA-CJ-4905-01A-02D-1429-08		5790452	129744295	28	28219											
ANK3	288	hgsc.bcm.edu;ucsc.edu	37	10	61865763	61865764	+	Frame_Shift_Del	DEL	TT	TT	-	rs371356572		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr10:61865763_61865764delTT	ENST00000280772.2	-	28	3418_3419	c.3227_3228delAA	c.(3226-3228)gaafs	p.E1076fs	ANK3_ENST00000355288.2_Frame_Shift_Del_p.E210fs|ANK3_ENST00000503366.1_Frame_Shift_Del_p.E1077fs|ANK3_ENST00000373827.2_Frame_Shift_Del_p.E1070fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1076	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAACAATGAGTTCTCTCTCTTT	0.361																																																0																																										SO:0001589	frameshift_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3227_3228delAA	10.37:g.61865763_61865764delTT	ENSP00000280772:p.Glu1076fs		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	37	CCDS7258.1																																																																																				0.361	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		-	61865764	TT	-	61865763	7	5	528	1	0	1	0	1	0	0	0	0	622	1722	60	0	10282	0	ANK3	10	61865763	Frame_Shift_Del	DEL	TT	TCGA-CJ-4905-01A-02D-1429-08	56075311	61865763	73668984	29	28220											
ABLIM1	3983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	116307474	116307474	+	Silent	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr10:116307474C>T	ENST00000277895.5	-	5	832	c.735G>A	c.(733-735)caG>caA	p.Q245Q	ABLIM1_ENST00000533213.2_Silent_p.Q185Q|ABLIM1_ENST00000369252.4_Silent_p.Q185Q	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	245	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.Q245Q(1)|p.Q185Q(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCAAGTGCCACTGCTTATCCA	0.567																																																2	Substitution - coding silent(2)	kidney(2)											62	55	57					10																	116307474		2203	4300	6503	SO:0001819	synonymous_variant	3983			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.735G>A	10.37:g.116307474C>T			A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342011	0.24339	.	.	ENSG00000099204	ENST00000392955	.	.	.	5.53	2.66	0.31614	.	.	.	.	.	T	0.60560	0.2278	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58831	-0.7567	4	.	.	.	.	11.1656	0.48541	0.0:0.8049:0.0:0.1951	.	.	.	.	N	154	.	.	S	-	2	0	ABLIM1	116297464	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.433000	0.44793	1.362000	0.46000	0.561000	0.74099	AGT		0.567	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			T	116307474	C	T	116307474	2	4	528	1	0	0	0	0	0	0	0	1	94	564	20	2		2	ABLIM1	10	116307474	Silent	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	54441711	116307474	19227273	30	28221											
OR4C15	81309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55321820	55321820	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr11:55321820C>A	ENST00000314644.2	+	1	38	c.38C>A	c.(37-39)gCa>gAa	p.A13E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A13E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AATAATTTTGCACTTGGATGT	0.318										HNSCC(20;0.049)																																						1	Substitution - Missense(1)	kidney(1)											121	120	120					11																	55321820		2201	4296	6497	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.38C>A	11.37:g.55321820C>A	ENSP00000324958:p.Ala13Glu		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	4.779	0.144815	0.09134	.	.	ENSG00000181939	ENST00000314644	T	0.00005	9.78	3.15	-1.24	0.09435	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.02398	-1.1165	6	0.87932	D	0	.	0.6067	0.00753	0.1954:0.3717:0.1913:0.2416	.	.	.	.	E	13	ENSP00000324958:A13E	ENSP00000324958:A13E	A	+	2	0	OR4C15	55078396	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-2.795000	0.00764	-0.237000	0.09739	-0.532000	0.04303	GCA		0.318	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		A	55321820	C	A	55321820	3	1	528	1	0	0	0	0	1	0	0	0	11050	710	25	4	40	4	OR4C15	11	55321820	Missense_Mutation	SNP	C	TCGA-CJ-4905-01A-02D-1429-08		55321820	79684696	31	28222											
PITPNM1	9600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	67266179	67266179	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr11:67266179A>G	ENST00000534749.1	-	9	1560	c.1372T>C	c.(1372-1374)Tcc>Ccc	p.S458P	PITPNM1_ENST00000436757.2_Missense_Mutation_p.S458P|PITPNM1_ENST00000356404.3_Missense_Mutation_p.S458P			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	458					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)	p.S458P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCGAAGGCGGAGCTCAGCGTC	0.667																																					GBM(28;144 709 4607 5525)											1	Substitution - Missense(1)	kidney(1)											69	69	69					11																	67266179		2199	4295	6494	SO:0001583	missense	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1372T>C	11.37:g.67266179A>G	ENSP00000437286:p.Ser458Pro		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	a	8.556	0.876708	0.17395	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.20463	2.07;2.07;2.07	3.94	-1.16	0.09678	.	1.168980	0.06586	N	0.751113	T	0.16557	0.0398	L	0.39898	1.24	0.09310	N	1	B;B	0.22800	0.075;0.045	B;B	0.33121	0.158;0.058	T	0.43130	-0.9410	10	0.38643	T	0.18	-20.2384	0.2446	0.00197	0.3017:0.2843:0.1599:0.2541	.	458;458	O00562-2;O00562	.;PITM1_HUMAN	P	458	ENSP00000437286:S458P;ENSP00000398787:S458P;ENSP00000348772:S458P	ENSP00000348772:S458P	S	-	1	0	PITPNM1	67022755	0.000000	0.05858	0.231000	0.23993	0.399000	0.30720	-0.667000	0.05274	-0.273000	0.09246	0.449000	0.29647	TCC		0.667	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		G	67266179	A	G	67266179	3	3	528	1	0	0	0	0	1	0	0	0	11952	304	11	3	2422	3	PITPNM1	11	67266179	Missense_Mutation	SNP	A	TCGA-CJ-4905-01A-02D-1429-08	11944359	67266179	67740337	32	28223											
NARS2	79731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	78154737	78154737	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr11:78154737C>A	ENST00000281038.5	-	12	1607	c.1232G>T	c.(1231-1233)cGa>cTa	p.R411L	NARS2_ENST00000528850.1_Missense_Mutation_p.R184L|RP11-452H21.1_ENST00000534168.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	411					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.R411L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GAAATGGTATCGTTCTTCTCT	0.418																																																1	Substitution - Missense(1)	kidney(1)											95	91	92					11																	78154737		2200	4292	6492	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1232G>T	11.37:g.78154737C>A	ENSP00000281038:p.Arg411Leu		G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352114	0.82132	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	D;D	0.84944	-1.92;-1.92	4.96	4.96	0.65561	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.94742	0.8303	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95830	0.8857	10	0.87932	D	0	-11.3694	18.7354	0.91751	0.0:1.0:0.0:0.0	.	411	Q96I59	SYNM_HUMAN	L	411;184	ENSP00000281038:R411L;ENSP00000432635:R184L	ENSP00000281038:R411L	R	-	2	0	NARS2	77832385	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.089000	0.71384	2.734000	0.93682	0.591000	0.81541	CGA		0.418	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		A	78154737	C	A	78154737	3	1	528	1	0	0	0	0	1	0	0	0	10173	884	31	4	213	4	NARS2	11	78154737	Missense_Mutation	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	10888558	78154737	56851779	33	28224											
EXPH5	23086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108389044	108389044	+	Silent	SNP	G	G	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr11:108389044G>T	ENST00000265843.4	-	5	659	c.549C>A	c.(547-549)gtC>gtA	p.V183V	EXPH5_ENST00000525344.1_Silent_p.V176V|EXPH5_ENST00000428840.1_Silent_p.V107V|EXPH5_ENST00000443411.1_5'UTR|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	183					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.V183V(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGGCTTTGGGACAAATGTAC	0.418																																																1	Substitution - coding silent(1)	kidney(1)											97	84	88					11																	108389044		2201	4298	6499	SO:0001819	synonymous_variant	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.549C>A	11.37:g.108389044G>T			Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	CCDS8341.1																																																																																				0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		T	108389044	G	T	108389044	2	4	528	1	0	0	0	0	0	0	0	1	5324	1161	41	4		4	EXPH5	11	108389044	Silent	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	30234307	108389044	26617472	34	28225											
APOA5	116519	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	116661335	116661335	+	Missense_Mutation	SNP	G	G	A	rs546060544		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr11:116661335G>A	ENST00000227665.4	-	3	644	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.R204C			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	204					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)	p.R204C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TGCACGTGGCGCCCGATGCCG	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		13685	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											14	17	16					11																	116661335		2180	4259	6439	SO:0001583	missense	116519			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.610C>T	11.37:g.116661335G>A	ENSP00000227665:p.Arg204Cys		B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514370	0.85389	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.74315	-0.83;-0.83	4.84	4.84	0.62591	Apolipoprotein/apolipophorin (1);	1.167800	0.06305	N	0.701598	D	0.83617	0.5293	L	0.57536	1.79	0.40229	D	0.977821	D;D	0.76494	0.999;0.995	P;P	0.58077	0.832;0.832	T	0.77008	-0.2747	10	0.66056	D	0.02	-6.7753	15.8945	0.79325	0.0:0.0:1.0:0.0	.	201;204	B0YIW1;Q6Q788	.;APOA5_HUMAN	C	204	ENSP00000227665:R204C;ENSP00000445002:R204C	ENSP00000227665:R204C	R	-	1	0	APOA5	116166545	0.981000	0.34729	0.977000	0.42913	0.903000	0.53119	3.415000	0.52700	2.501000	0.84356	0.650000	0.86243	CGC		0.701	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			A	116661335	G	A	116661335	3	1	528	1	0	0	0	0	1	0	0	0	784	1087	38	1	494	1	APOA5	11	116661335	Missense_Mutation	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	8272291	116661335	18345181	35	28226											
DNM1L	10059	hgsc.bcm.edu;ucsc.edu	37	12	32884434	32884435	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr12:32884434_32884435insA	ENST00000549701.1	+	11	1419_1420	c.1345_1346insA	c.(1345-1347)tacfs	p.Y449fs	YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000553257.1_Frame_Shift_Ins_p.Y462fs|DNM1L_ENST00000414834.2_Frame_Shift_Ins_p.Y246fs|DNM1L_ENST00000358214.5_Frame_Shift_Ins_p.Y462fs|DNM1L_ENST00000452533.2_Frame_Shift_Ins_p.Y449fs|DNM1L_ENST00000266481.6_Frame_Shift_Ins_p.Y449fs|DNM1L_ENST00000381000.4_Frame_Shift_Ins_p.Y462fs|DNM1L_ENST00000547312.1_Frame_Shift_Ins_p.Y449fs			O00429	DNM1L_HUMAN	dynamin 1-like	449	Interaction with GSK3B.|Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGTAGCAATTACAGTACACAG	0.45																																																0																																										SO:0001589	frameshift_variant	10059			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1346dupA	12.37:g.32884435_32884435dupA	ENSP00000450399:p.Tyr449fs		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Frame_Shift_Del	INS	ENST00000549701.1	37	CCDS8729.1																																																																																				0.45	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		A	32884435	-	A	32884434	7	5	528	1	0	1	1	0	0	0	0	0	4673	1754	61	0	1387	0	DNM1L	12	32884434	Frame_Shift_Ins	INS	-	TCGA-CJ-4905-01A-02D-1429-08		32884434	100967461	36	28227											
GPR84	53831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54757575	54757575	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr12:54757575A>G	ENST00000551809.1	-	1	696	c.61T>C	c.(61-63)Tat>Cat	p.Y21H	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.Y21H			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.Y21H(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						ACTGCAACATAACGATAGCCC	0.582																																																1	Substitution - Missense(1)	kidney(1)											114	86	96					12																	54757575		2203	4300	6503	SO:0001583	missense	53831			AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.61T>C	12.37:g.54757575A>G	ENSP00000450310:p.Tyr21His		B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997936	0.74818	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.37584	1.19;1.19	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000006	T	0.44993	0.1320	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.21280	-1.0250	10	0.23302	T	0.38	-15.0808	12.9625	0.58466	1.0:0.0:0.0:0.0	.	21	Q9NQS5	GPR84_HUMAN	H	21	ENSP00000267015:Y21H;ENSP00000450310:Y21H	ENSP00000267015:Y21H	Y	-	1	0	GPR84	53043842	1.000000	0.71417	0.433000	0.26760	0.947000	0.59692	7.841000	0.86834	2.104000	0.64026	0.454000	0.30748	TAT		0.582	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			G	54757575	A	G	54757575	3	3	528	1	0	0	0	0	1	0	0	0	6716	362	13	3	1133	3	GPR84	12	54757575	Missense_Mutation	SNP	A	TCGA-CJ-4905-01A-02D-1429-08	21873141	54757575	79094320	37	28228											
FAM19A2	338811	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	62147529	62147529	+	Splice_Site	SNP	T	T	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr12:62147529T>A	ENST00000416284.3	-	4	1844		c.e4-2		FAM19A2_ENST00000551619.1_Splice_Site|FAM19A2_ENST00000550003.1_Splice_Site|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							cytoplasm (GO:0005737)		p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CTATTGAAGCTATAAGAGAGA	0.388																																																1	Unknown(1)	kidney(1)											87	84	85					12																	62147529		2203	4300	6503	SO:0001630	splice_region_variant	338811			AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.260-2A>T	12.37:g.62147529T>A			B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Splice_Site	SNP	ENST00000416284.3	37	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.102409	0.56183	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0949	0.65013	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM19A2	60433796	1.000000	0.71417	0.876000	0.34364	0.571000	0.35966	7.899000	0.87370	1.743000	0.51761	0.455000	0.32223	.		0.388	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539	Intron	A	62147529	T	A	62147529	5	1	528	1	0	0	0	0	0	0	1	0	5534	1536	53	5	145	5	FAM19A2	12	62147529	Splice_Site	SNP	T	TCGA-CJ-4905-01A-02D-1429-08	7389954	62147529	71704366	38	28229											
C12orf51	283450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112688106	112688106	+	Silent	SNP	G	G	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr12:112688106G>C	ENST00000430131.2	-	24	3671	c.2526C>G	c.(2524-2526)acC>acG	p.T842T	HECTD4_ENST00000377560.5_Silent_p.T1092T|HECTD4_ENST00000550722.1_Silent_p.T1118T			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	842					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T1092T(1)|p.T842T(1)									CTTCCTCTATGGTCAGAGGCA	0.557																																																2	Substitution - coding silent(2)	kidney(2)											127	118	121					12																	112688106		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2526C>G	12.37:g.112688106G>C			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37																																																																																					0.557	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		C	112688106	G	C	112688106	2	2	528	1	0	0	0	0	0	0	0	1	1698	1335	47	4		4	C12orf51	12	112688106	Silent	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	50540577	112688106	21163789	39	28230											
FLT3	2322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	28597599	28597599	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr13:28597599T>C	ENST00000241453.7	-	19	2387	c.2306A>G	c.(2305-2307)gAa>gGa	p.E769G	FLT3_ENST00000380982.4_Missense_Mutation_p.E769G|FLT3_ENST00000537084.1_Missense_Mutation_p.E769G	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E769G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTGGTTTTCATATTCAAT	0.363			"Mis, O"		"AML, ALL"																																		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Substitution - Missense(1)	kidney(1)											124	114	118					13																	28597599		2202	4300	6502	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2306A>G	13.37:g.28597599T>C	ENSP00000241453:p.Glu769Gly		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024063	0.54683	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.89050	-2.46;-2.46;-2.46	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.194743	0.38605	N	0.001639	D	0.86506	0.5949	N	0.20986	0.625	0.46044	D	0.99883	D;D	0.61697	0.99;0.97	P;P	0.58721	0.844;0.831	D	0.84484	0.0607	10	0.32370	T	0.25	.	7.9532	0.30027	0.1267:0.0:0.148:0.7253	.	769;769	P36888-2;P36888	.;FLT3_HUMAN	G	769	ENSP00000241453:E769G;ENSP00000370369:E769G;ENSP00000438139:E769G	ENSP00000241453:E769G	E	-	2	0	FLT3	27495599	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.317000	0.43770	2.131000	0.65755	0.533000	0.62120	GAA		0.363	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			C	28597599	T	C	28597599	3	2	528	1	0	0	0	0	1	0	0	0	5944	1783	62	3	699	3	FLT3	13	28597599	Missense_Mutation	SNP	T	TCGA-CJ-4905-01A-02D-1429-08		28597599	86572279	40	28231											
PCDH20	64881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	61987113	61987113	+	Silent	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr13:61987113C>A	ENST00000409186.1	-	5	3224	c.1119G>T	c.(1117-1119)ctG>ctT	p.L373L	PCDH20_ENST00000409204.4_Silent_p.L373L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	373	Cadherin 3. {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)|poly(A) RNA binding (GO:0044822)	p.L346L(1)|p.L373L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTTTTCATCCAGGTGAAATA	0.438																																																2	Substitution - coding silent(2)	kidney(2)											101	100	100					13																	61987113		2203	4300	6503	SO:0001819	synonymous_variant	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1119G>T	13.37:g.61987113C>A			A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	CCDS9442.2																																																																																				0.438	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		A	61987113	C	A	61987113	2	1	528	1	0	0	0	0	0	0	0	1	11517	581	21	4		4	PCDH20	13	61987113	Silent	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	33389514	61987113	53182765	41	28232											
KIAA0317	9870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75136411	75136411	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr14:75136411T>G	ENST00000356357.4	-	15	2370	c.1855A>C	c.(1855-1857)Agt>Cgt	p.S619R	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	619	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S619R(1)									TCCATCTCACTCATGTCATTG	0.398																																																1	Substitution - Missense(1)	kidney(1)											176	156	162					14																	75136411		1839	4098	5937	SO:0001583	missense	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1855A>C	14.37:g.75136411T>G	ENSP00000348714:p.Ser619Arg		B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121509	0.77436	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.44881	0.91;0.91	5.41	5.41	0.78517	HECT (4);	0.037172	0.85682	D	0.000000	T	0.44435	0.1293	L	0.42744	1.35	0.58432	D	0.999996	P	0.38745	0.645	P	0.44422	0.449	T	0.35076	-0.9803	10	0.42905	T	0.14	.	15.7371	0.77853	0.0:0.0:0.0:1.0	.	619	O15033	K0317_HUMAN	R	619;458;458	ENSP00000348714:S619R;ENSP00000452101:S458R	ENSP00000348714:S619R	S	-	1	0	KIAA0317	74206164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.099000	0.71466	2.177000	0.69029	0.460000	0.39030	AGT		0.398	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		G	75136411	T	G	75136411	3	3	528	1	0	0	0	0	1	0	0	0	8169	1551	54	5	640	5	KIAA0317	14	75136411	Missense_Mutation	SNP	T	TCGA-CJ-4905-01A-02D-1429-08		75136411	32213129	42	28233											
CORO1A	11151	broad.mit.edu	37	16	30199863	30199863	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr16:30199863G>C	ENST00000219150.5	+	10	1552	c.1247G>C	c.(1246-1248)aGg>aCg	p.R416T	CORO1A_ENST00000565497.1_Intron|CORO1A_ENST00000570045.1_Missense_Mutation_p.R416T	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	416					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R416T(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GGGCGCAGGAGGGCAGCACCA	0.672																																																1	Substitution - Missense(1)	kidney(1)											10	13	12					16																	30199863		2183	4288	6471	SO:0001583	missense	11151			X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.1247G>C	16.37:g.30199863G>C	ENSP00000219150:p.Arg416Thr		B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	3.611	-0.079639	0.07141	.	.	ENSG00000102879	ENST00000219150	T	0.60299	0.2	4.96	-7.54	0.01332	.	1.493210	0.03935	N	0.286002	T	0.48295	0.1492	L	0.48642	1.525	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.30937	-0.9961	10	0.23302	T	0.38	-34.5537	14.173	0.65522	0.7072:0.0:0.2928:0.0	.	416	P31146	COR1A_HUMAN	T	416	ENSP00000219150:R416T	ENSP00000219150:R416T	R	+	2	0	CORO1A	30107364	0.000000	0.05858	0.001000	0.08648	0.735000	0.41995	-1.737000	0.01843	-1.934000	0.01051	-0.258000	0.10820	AGG		0.672	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		C	30199863	G	C	30199863	3	2	528	1	0	0	0	0	1	0	0	0	3755	1000	35	4	1281	4	CORO1A	16	30199863	Missense_Mutation	SNP	G	TCGA-CJ-4905-01A-02D-1429-08		30199863	60154890	43	28234											
SRCAP	10847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30740445	30740445	+	Silent	SNP	T	T	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr16:30740445T>C	ENST00000262518.4	+	26	6202	c.5817T>C	c.(5815-5817)cgT>cgC	p.R1939R	SRCAP_ENST00000344771.4_Silent_p.R1781R|SRCAP_ENST00000395059.2_Silent_p.R1877R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1939					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R1939R(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGGCCCTCGTTCTCCTGGCC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											54	56	55					16																	30740445		2197	4300	6497	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5817T>C	16.37:g.30740445T>C			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		C	30740445	T	C	30740445	2	2	528	1	0	0	0	0	0	0	0	1	15140	1712	60	3		3	SRCAP	16	30740445	Silent	SNP	T	TCGA-CJ-4905-01A-02D-1429-08	540582	30740445	59614308	44	28235											
ZCCHC14	23174	hgsc.bcm.edu;ucsc.edu	37	16	87446254	87446254	+	Frame_Shift_Del	DEL	G	G	-	rs200914568		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr16:87446254delG	ENST00000268616.4	-	12	1879	c.1662delC	c.(1660-1662)agcfs	p.S554fs		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	554							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGCTGCCAAAGCTCTTGTCCA	0.557																																																0													96	100	98					16																	87446254		2198	4300	6498	SO:0001589	frameshift_variant	23174			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1662delC	16.37:g.87446254delG	ENSP00000268616:p.Ser554fs		D3DUN1|O60324|Q3MJD8|Q9UFP0	Frame_Shift_Del	DEL	ENST00000268616.4	37	CCDS10961.1																																																																																				0.557	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		-	87446254	G	-	87446254	7	5	528	1	0	1	0	1	0	0	0	0	17588	962	34	0	1195	0	ZCCHC14	16	87446254	Frame_Shift_Del	DEL	G	TCGA-CJ-4905-01A-02D-1429-08	56705809	87446254	2908499	45	28236											
CNP	1267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40120540	40120540	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr17:40120540C>T	ENST00000393892.3	+	2	602	c.458C>T	c.(457-459)gCg>gTg	p.A153V	CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.A133V|CNP_ENST00000472031.1_Intron	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	153					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)	p.A153V(1)|p.A133V(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CCCAAGACGGCGTGGCGGCTG	0.597																																																2	Substitution - Missense(2)	kidney(2)											34	39	37					17																	40120540		2071	4189	6260	SO:0001583	missense	1267				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.458C>T	17.37:g.40120540C>T	ENSP00000377470:p.Ala153Val			Missense_Mutation	SNP	ENST00000393892.3	37	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883611	0.33255	.	.	ENSG00000173786	ENST00000393892;ENST00000393888	T;T	0.42900	0.96;0.96	4.73	4.73	0.59995	.	0.693016	0.14745	N	0.300931	T	0.25568	0.0622	N	0.08118	0	0.34751	D	0.731731	B;B	0.14012	0.009;0.007	B;B	0.12837	0.008;0.005	T	0.22347	-1.0219	10	0.30078	T	0.28	-29.4614	14.4182	0.67165	0.1477:0.8523:0.0:0.0	.	153;133	P09543;P09543-2	CN37_HUMAN;.	V	153;133	ENSP00000377470:A153V;ENSP00000377466:A133V	ENSP00000377466:A133V	A	+	2	0	CNP	37374066	0.001000	0.12720	0.455000	0.27031	0.929000	0.56500	0.822000	0.27352	2.452000	0.82932	0.455000	0.32223	GCG		0.597	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			T	40120540	C	T	40120540	3	4	528	1	0	0	0	0	1	0	0	0	3628	768	27	1	464	1	CNP	17	40120540	Missense_Mutation	SNP	C	TCGA-CJ-4905-01A-02D-1429-08		40120540	41074670	46	28237											
HSD17B1	3292	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40706578	40706578	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr17:40706578A>G	ENST00000585807.1	+	5	4415	c.695A>G	c.(694-696)cAg>cGg	p.Q232R	RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.Q233R|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	232					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.Q232R(1)		NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GAGGCGGCGCAGAACCCTGAG	0.692																																																1	Substitution - Missense(1)	kidney(1)											48	37	41					17																	40706578		2203	4300	6503	SO:0001583	missense	3292				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.695A>G	17.37:g.40706578A>G	ENSP00000466799:p.Gln232Arg		B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.691814	0.68271	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.16	4.16	0.48862	NAD(P)-binding domain (1);	0.065573	0.64402	D	0.000007	T	0.64853	0.2636	M	0.74467	2.265	0.48511	D	0.999664	B;B	0.31548	0.125;0.328	B;B	0.42030	0.055;0.373	T	0.60777	-0.7196	9	0.22109	T	0.4	.	9.5087	0.39062	1.0:0.0:0.0:0.0	.	263;232	B3RFR9;P14061	.;DHB1_HUMAN	R	232	.	ENSP00000225929:Q232R	Q	+	2	0	HSD17B1	37960104	1.000000	0.71417	0.925000	0.36789	0.005000	0.04900	3.779000	0.55379	1.755000	0.51935	0.402000	0.26972	CAG		0.692	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		G	40706578	A	G	40706578	3	3	528	1	0	0	0	0	1	0	0	0	7380	188	7	3	713	3	HSD17B1	17	40706578	Missense_Mutation	SNP	A	TCGA-CJ-4905-01A-02D-1429-08	586038	40706578	40488632	47	28238											
COL1A1	1277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48267076	48267076	+	Silent	SNP	A	A	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr17:48267076A>T	ENST00000225964.5	-	38	2749	c.2631T>A	c.(2629-2631)ccT>ccA	p.P877P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	877	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P877P(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CAGCAGCACCAGGGAAACCAG	0.622			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	1	Substitution - coding silent(1)	kidney(1)											49	54	52					17																	48267076		2202	4299	6501	SO:0001819	synonymous_variant	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2631T>A	17.37:g.48267076A>T			O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	CCDS11561.1																																																																																				0.622	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			T	48267076	A	T	48267076	2	4	528	1	0	0	0	0	0	0	0	1	3679	175	7	5		5	COL1A1	17	48267076	Silent	SNP	A	TCGA-CJ-4905-01A-02D-1429-08	7560498	48267076	32928134	48	28239											
ANKRD29	147463	hgsc.bcm.edu;ucsc.edu	37	18	21229082	21229083	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr18:21229082_21229083insA	ENST00000592179.1	-	2	250_251	c.96_97insT	c.(94-99)ttgaacfs	p.N33fs	ANKRD29_ENST00000585908.2_Frame_Shift_Ins_p.N33fs|ANKRD29_ENST00000284207.7_Frame_Shift_Ins_p.N33fs|ANKRD29_ENST00000322980.9_Frame_Shift_Ins_p.N33fs	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	33										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGGCCGCTGTTCAACAGCAGCT	0.569																																																0																																										SO:0001589	frameshift_variant	147463			AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"Ankyrin repeat domain containing"	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.96_97insT	18.37:g.21229082_21229083insA	ENSP00000468354:p.Asn33fs		B2R972|Q6ZWE8|Q96LU9	Frame_Shift_Del	INS	ENST00000592179.1	37	CCDS11879.1																																																																																				0.569	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		A	21229083	-	A	21229082	7	5	528	1	0	1	1	0	0	0	0	0	657	1783	62	0	844	0	ANKRD29	18	21229082	Frame_Shift_Ins	INS	-	TCGA-CJ-4905-01A-02D-1429-08		21229082	56848166	49	28240											
ZNF396	252884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	32948335	32948335	+	IGR	SNP	A	A	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr18:32948335A>C	ENST00000589332.1	-	0	1884				ZNF396_ENST00000306346.1_Missense_Mutation_p.S328A			Q96N95	ZN396_HUMAN	zinc finger protein 396						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S328A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CCTGAAAGTGACCTGGGGCAC	0.373																																																1	Substitution - Missense(1)	kidney(1)											87	83	84					18																	32948335		2203	4300	6503	SO:0001628	intergenic_variant	252884			AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"-", "Zinc fingers, C2H2-type"	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562		18.37:g.32948335A>C			A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37		.	.	.	.	.	.	.	.	.	.	A	5.933	0.356125	0.11239	.	.	ENSG00000186496	ENST00000306346	T	0.07216	3.21	3.4	3.4	0.38934	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.23889	N	0.996559	D	0.53151	0.958	P	0.51833	0.681	T	0.06844	-1.0804	8	0.87932	D	0	.	8.5207	0.33273	1.0:0.0:0.0:0.0	.	328	Q96N95-3	.	A	328	ENSP00000302310:S328A	ENSP00000302310:S328A	S	-	1	0	ZNF396	31202333	0.040000	0.19996	0.011000	0.14972	0.002000	0.02628	1.786000	0.38694	1.781000	0.52344	0.402000	0.26972	TCA		0.373	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		C	32948335	A	C	32948335	1	2	528	0	1	0	0	0	0	0	0	0	17887	275	10	5		5	ZNF396	18	32948335	IGR	SNP	A	TCGA-CJ-4905-01A-02D-1429-08	11719253	32948335	45128913	50	28241											
SIRT6	51548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4180866	4180866	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr19:4180866T>A	ENST00000337491.2	-	2	171	c.107A>T	c.(106-108)gAa>gTa	p.E36V	SIRT6_ENST00000601488.1_Missense_Mutation_p.E36V|ANKRD24_ENST00000600132.1_5'Flank|SIRT6_ENST00000305232.6_Missense_Mutation_p.E36V|SIRT6_ENST00000594279.1_5'UTR|SIRT6_ENST00000381935.3_Intron	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	36	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)	p.E36V(1)		central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGCCAGTTCCCACACCTT	0.627																																																1	Substitution - Missense(1)	kidney(1)											40	33	35					19																	4180866		2200	4295	6495	SO:0001583	missense	51548			AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6", "sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.107A>T	19.37:g.4180866T>A	ENSP00000337332:p.Glu36Val		B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	ENST00000337491.2	37	CCDS12122.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446361	0.43429	.	.	ENSG00000077463	ENST00000337491;ENST00000305232	T;T	0.17528	2.27;2.27	4.95	3.91	0.45181	.	0.217511	0.41097	D	0.000955	T	0.15478	0.0373	L	0.52126	1.63	0.80722	D	1	B;B;B	0.30634	0.001;0.288;0.002	B;B;B	0.23419	0.002;0.046;0.001	T	0.02909	-1.1095	10	0.46703	T	0.11	-26.5988	10.6574	0.45684	0.0:0.0:0.1728:0.8272	.	36;36;36	Q8N6T7-2;E9PCE1;Q8N6T7	.;.;SIRT6_HUMAN	V	36	ENSP00000337332:E36V;ENSP00000305310:E36V	ENSP00000305310:E36V	E	-	2	0	SIRT6	4131866	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.232000	0.43018	0.732000	0.32470	0.379000	0.24179	GAA		0.627	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457931.2			A	4180866	T	A	4180866	3	1	528	1	0	0	0	0	1	0	0	0	14348	1783	62	5	988	5	SIRT6	19	4180866	Missense_Mutation	SNP	T	TCGA-CJ-4905-01A-02D-1429-08		4180866	54948117	51	28242											
ZNF358	140467	broad.mit.edu;hgsc.bcm.edu	37	19	7584511	7584511	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr19:7584511C>T	ENST00000597229.1	+	2	553	c.383C>T	c.(382-384)aCt>aTt	p.T128I	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.T128I	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	128					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T128I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TCTGGCCTCACTGCCACCCCC	0.692																																																1	Substitution - Missense(1)	kidney(1)											50	42	45					19																	7584511		2203	4300	6503	SO:0001583	missense	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.383C>T	19.37:g.7584511C>T	ENSP00000472305:p.Thr128Ile		Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	C	7.673	0.687296	0.14973	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07800	3.16	3.53	2.46	0.29980	.	.	.	.	.	T	0.05960	0.0155	N	0.24115	0.695	0.09310	N	1	B	0.23650	0.089	B	0.23574	0.047	T	0.35051	-0.9804	9	0.44086	T	0.13	-0.0993	6.2759	0.20981	0.214:0.5781:0.2078:0.0	.	128	Q9NW07	ZN358_HUMAN	I	128	ENSP00000377873:T128I	ENSP00000354703:T128I	T	+	2	0	ZNF358	7490511	0.006000	0.16342	0.099000	0.21106	0.470000	0.32858	2.004000	0.40854	1.021000	0.39600	0.462000	0.41574	ACT		0.692	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			T	7584511	C	T	7584511	3	4	528	1	0	0	0	0	1	0	0	0	17872	565	20	2	385	2	ZNF358	19	7584511	Missense_Mutation	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	3403645	7584511	51544472	52	28243											
ZNF627	199692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11725352	11725352	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr19:11725352C>T	ENST00000361113.5	+	2	222	c.14C>T	c.(13-15)gCc>gTc	p.A5V	ZNF627_ENST00000588174.1_Missense_Mutation_p.A5V	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	5	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A5V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GATTCAGTGGCCTTTGAGGAT	0.522																																					Melanoma(112;173 1614 10731 17751 23322)											1	Substitution - Missense(1)	kidney(1)											89	93	92					19																	11725352		2203	4297	6500	SO:0001583	missense	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"Zinc fingers, C2H2-type", "-"	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.14C>T	19.37:g.11725352C>T	ENSP00000354414:p.Ala5Val		O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	37	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	c	12.46	1.945555	0.34377	.	.	ENSG00000198551	ENST00000361113	T	0.01787	4.64	1.29	0.234	0.15390	Krueppel-associated box (4);	.	.	.	.	T	0.01870	0.0059	L	0.42487	1.325	0.09310	N	1	B	0.26577	0.153	B	0.28849	0.095	T	0.46303	-0.9201	9	0.42905	T	0.14	.	2.7087	0.05168	0.0:0.477:0.3104:0.2126	.	5	Q7L945	ZN627_HUMAN	V	5	ENSP00000354414:A5V	ENSP00000354414:A5V	A	+	2	0	ZNF627	11586352	0.007000	0.16637	0.014000	0.15608	0.454000	0.32378	0.795000	0.26972	0.135000	0.18707	-0.262000	0.10625	GCC		0.522	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		T	11725352	C	T	11725352	3	4	528	1	0	0	0	0	1	0	0	0	18056	739	26	2	20	2	ZNF627	19	11725352	Missense_Mutation	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	4140841	11725352	47403631	53	28244											
ZNF527	84503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37879644	37879644	+	Silent	SNP	G	G	A	rs73930983	byFrequency	TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr19:37879644G>A	ENST00000436120.2	+	5	800	c.693G>A	c.(691-693)acG>acA	p.T231T	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T231T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCAGAGTACGTACCTTAGTA	0.348													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19542	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G		3,3629		0,3,1813	67	64	65		693	-0.8	0	19	dbSNP_130	65	0,8142		0,0,4071	no	coding-synonymous	ZNF527	NM_032453.1		0,3,5884	AA,AG,GG		0.0,0.0826,0.0255		231/610	37879644	3,11771	1816	4071	5887	SO:0001819	synonymous_variant	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.693G>A	19.37:g.37879644G>A			B4DVL5	Silent	SNP	ENST00000436120.2	37	CCDS42559.1																																																																																				0.348	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		A	37879644	G	A	37879644	2	1	528	1	0	0	0	0	0	0	0	1	17973	1132	40	1		1	ZNF527	19	37879644	Silent	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	26154292	37879644	21249339	54	28245											
POLD1	5424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50905132	50905132	+	Silent	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr19:50905132C>T	ENST00000440232.2	+	4	467	c.414C>T	c.(412-414)tgC>tgT	p.C138C	POLD1_ENST00000595904.1_Silent_p.C138C|POLD1_ENST00000599857.1_Silent_p.C138C	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	138					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.C138C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCTCTGTCTGCTGCCACATCC	0.711								DNA polymerases (catalytic subunits)																																								2	Substitution - coding silent(2)	kidney(2)											61	63	63					19																	50905132		2203	4300	6503	SO:0001819	synonymous_variant	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.414C>T	19.37:g.50905132C>T			Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	CCDS12795.1																																																																																				0.711	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			T	50905132	C	T	50905132	2	4	528	1	0	0	0	0	0	0	0	1	12192	805	28	2		2	POLD1	19	50905132	Silent	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	13025488	50905132	8223851	55	28246											
EPB41L1	2036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34778270	34778270	+	Silent	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr20:34778270C>T	ENST00000338074.2	+	10	1259	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	EPB41L1_ENST00000373950.2_Silent_p.V269V|EPB41L1_ENST00000441639.1_Silent_p.V304V|EPB41L1_ENST00000373946.3_Silent_p.V335V|EPB41L1_ENST00000373941.1_Silent_p.V366V|EPB41L1_ENST00000202028.5_Silent_p.V304V	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	366	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.V366V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGTGGAAGGTCTGCATCGAGC	0.537																																																1	Substitution - coding silent(1)	kidney(1)											84	71	75					20																	34778270		2203	4300	6503	SO:0001819	synonymous_variant	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1098C>T	20.37:g.34778270C>T			O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	CCDS13271.1																																																																																				0.537	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		T	34778270	C	T	34778270	2	4	528	1	0	0	0	0	0	0	0	1	5154	900	32	2		2	EPB41L1	20	34778270	Silent	SNP	C	TCGA-CJ-4905-01A-02D-1429-08		34778270	28247250	56	28247											
RBPJL	11317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	43938268	43938268	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr20:43938268T>C	ENST00000343694.3	+	3	265	c.193T>C	c.(193-195)Tgt>Cgt	p.C65R	RBPJL_ENST00000372743.1_Missense_Mutation_p.C65R|MATN4_ENST00000342716.4_5'Flank|RBPJL_ENST00000372741.3_Missense_Mutation_p.C65R|MATN4_ENST00000353917.5_5'Flank|MATN4_ENST00000360607.6_5'Flank|MATN4_ENST00000372751.4_5'Flank|MATN4_ENST00000537548.1_5'Flank	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	65					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C65R(1)		NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCAGCAACAGTGTGAACAGAC	0.617																																																1	Substitution - Missense(1)	kidney(1)											113	91	99					20																	43938268		2203	4300	6503	SO:0001583	missense	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.193T>C	20.37:g.43938268T>C	ENSP00000341243:p.Cys65Arg		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792495	0.31685	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.81908	-1.55;-1.55;-1.55	5.53	5.53	0.82687	LAG1, DNA binding (1);p53-like transcription factor, DNA-binding (1);	0.310219	0.29668	N	0.011517	T	0.67552	0.2905	N	0.14661	0.345	0.29457	N	0.858021	B;B	0.14805	0.011;0.006	B;B	0.06405	0.002;0.002	T	0.57289	-0.7837	10	0.16420	T	0.52	-15.4709	10.6879	0.45854	0.0:0.0:0.2693:0.7307	.	65;65	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	R	65	ENSP00000361828:C65R;ENSP00000361826:C65R;ENSP00000341243:C65R	ENSP00000341243:C65R	C	+	1	0	RBPJL	43371682	0.175000	0.23083	0.184000	0.23157	0.773000	0.43773	1.325000	0.33724	2.119000	0.64992	0.374000	0.22700	TGT		0.617	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		C	43938268	T	C	43938268	3	2	528	1	0	0	0	0	1	0	0	0	13168	1696	59	3	203	3	RBPJL	20	43938268	Missense_Mutation	SNP	T	TCGA-CJ-4905-01A-02D-1429-08	9159998	43938268	19087252	57	28248											
PIGT	51604	broad.mit.edu;hgsc.bcm.edu	37	20	44049024	44049024	+	Silent	SNP	G	G	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr20:44049024G>C	ENST00000279036.6	+	7	902	c.822G>C	c.(820-822)ctG>ctC	p.L274L	PIGT_ENST00000279035.9_Silent_p.L172L|PIGT_ENST00000341555.5_Silent_p.L80L|PIGT_ENST00000543458.2_Silent_p.L218L|PIGT_ENST00000535404.1_Silent_p.L119L|PIGT_ENST00000545755.1_Silent_p.L12L|PIGT_ENST00000372689.5_Silent_p.L274L	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	274					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.L274L(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCTGCCCCCTGGCTTCAGAGA	0.612																																																2	Substitution - coding silent(2)	kidney(2)											46	47	47					20																	44049024		2203	4300	6503	SO:0001819	synonymous_variant	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.822G>C	20.37:g.44049024G>C			B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	G	8.070	0.770070	0.15983	.	.	ENSG00000124155	ENST00000432270	.	.	.	5.38	3.42	0.39159	.	.	.	.	.	T	0.62245	0.2412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59053	-0.7526	4	.	.	.	-16.8154	11.8196	0.52230	0.0:0.1319:0.7308:0.1372	.	.	.	.	R	72	.	.	G	+	1	0	PIGT	43482438	1.000000	0.71417	0.826000	0.32828	0.796000	0.44982	2.639000	0.46570	0.820000	0.34516	0.655000	0.94253	GGC		0.612	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		C	44049024	G	C	44049024	2	2	528	1	0	0	0	0	0	0	0	1	11901	1335	47	4		4	PIGT	20	44049024	Silent	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	110756	44049024	18976496	58	28249											
C21orf58	54058	hgsc.bcm.edu	37	21	47722405	47722405	+	Silent	SNP	G	G	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr21:47722405G>A	ENST00000291691.7	-	7	1943	c.807C>T	c.(805-807)gcC>gcT	p.A269A	C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397679.1_Silent_p.A163A|C21orf58_ENST00000397680.1_Silent_p.A163A|C21orf58_ENST00000397683.1_Silent_p.A163A|C21orf58_ENST00000397682.3_Silent_p.A163A	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	269								p.A269A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CTACCTGCAGGGCTGGGGGCA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											27	24	25					21																	47722405		2203	4298	6501	SO:0001819	synonymous_variant	54058				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.807C>T	21.37:g.47722405G>A			B3KPI1	Silent	SNP	ENST00000291691.7	37	CCDS13735.1																																																																																				0.577	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180		A	47722405	G	A	47722405	2	1	528	1	0	0	0	0	0	0	0	1	2131	1219	43	2		2	C21orf58	21	47722405	Silent	SNP	G	TCGA-CJ-4905-01A-02D-1429-08		47722405	407490	59	28250											
BPIL2	254240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32853321	32853321	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr22:32853321A>T	ENST00000397452.1	-	2	163	c.53T>A	c.(52-54)cTc>cAc	p.L18H	BPIFC_ENST00000300399.3_Missense_Mutation_p.L18H|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000397450.1_Missense_Mutation_p.L18H			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	18						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.L18H(1)									TGAGACATAGAGATTCCACAG	0.433											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - Missense(1)	kidney(1)											127	118	121					22																	32853321		2203	4300	6503	SO:0001583	missense	0			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.53T>A	22.37:g.32853321A>T	ENSP00000380594:p.Leu18His	835	A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	a	12.38	1.921852	0.33908	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000397450	T;T	0.06768	3.26;3.26	4.83	3.55	0.40652	.	0.782138	0.11789	N	0.529381	T	0.21921	0.0528	M	0.78916	2.43	0.20489	N	0.999892	D;D	0.67145	0.996;0.99	P;P	0.58873	0.847;0.707	T	0.06935	-1.0799	10	0.46703	T	0.11	-3.5439	7.0329	0.24977	0.8776:0.0:0.1224:0.0	.	18;18	Q5TI88;Q8NFQ6	.;BPIFC_HUMAN	H	18	ENSP00000380594:L18H;ENSP00000300399:L18H	ENSP00000300399:L18H	L	-	2	0	BPIFC	31183321	0.333000	0.24731	0.893000	0.35052	0.177000	0.22998	2.889000	0.48601	1.818000	0.53035	0.441000	0.28932	CTC		0.433	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		T	32853321	A	T	32853321	3	4	528	1	0	0	0	0	1	0	0	0	1494	304	11	5	1530	5	BPIL2	22	32853321	Missense_Mutation	SNP	A	TCGA-CJ-4905-01A-02D-1429-08		32853321	18451245	60	28251											
MTMR8	55613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	63568632	63568632	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chrX:63568632T>A	ENST00000374852.3	-	6	707	c.640A>T	c.(640-642)Act>Tct	p.T214S	MTMR8_ENST00000453546.1_Missense_Mutation_p.T214S	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	214	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.T214S(2)|p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACACAGCGAGTGTAAAATCCA	0.433																																																3	Substitution - Missense(2)|Whole gene deletion(1)	kidney(2)|ovary(1)											108	86	93					X																	63568632		2203	4300	6503	SO:0001583	missense	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.640A>T	X.37:g.63568632T>A	ENSP00000363985:p.Thr214Ser		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	T	3.935	-0.015389	0.07681	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.88975	-2.45;-2.45	2.68	-0.216	0.13153	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.366986	0.18656	U	0.134876	T	0.65112	0.2660	N	0.01352	-0.895	0.21627	N	0.99962	B;B	0.15141	0.004;0.012	B;B	0.20577	0.004;0.03	T	0.58752	-0.7581	10	0.35671	T	0.21	.	2.9499	0.05858	0.2334:0.4357:0.0:0.3308	.	214;214	B4DQL0;Q96EF0	.;MTMR8_HUMAN	S	214	ENSP00000394003:T214S;ENSP00000363985:T214S	ENSP00000363985:T214S	T	-	1	0	MTMR8	63485357	0.920000	0.31207	0.080000	0.20451	0.981000	0.71138	1.593000	0.36686	0.158000	0.19367	0.412000	0.27726	ACT		0.433	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		A	63568632	T	A	63568632	3	1	528	1	0	0	0	0	1	0	0	0	9951	1696	59	5	1510	5	MTMR8	23	63568632	Missense_Mutation	SNP	T	TCGA-CJ-4905-01A-02D-1429-08		63568632	91701928	61	28252											
RGAG4	340526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	71351148	71351148	+	Silent	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chrX:71351148C>A	ENST00000545866.1	-	1	610	c.243G>T	c.(241-243)ggG>ggT	p.G81G	NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000510661.1_5'Flank|RGAG4_ENST00000609883.1_Silent_p.G81G|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	81								p.G154G(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GCAGTTCTCCCCCGGGAATGA	0.597																																																1	Substitution - coding silent(1)	kidney(1)											35	39	38					X																	71351148		1967	4133	6100	SO:0001819	synonymous_variant	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.243G>T	X.37:g.71351148C>A			A7E2W7|Q8NCM4|Q9NPX1	Silent	SNP	ENST00000545866.1	37	CCDS55446.1																																																																																				0.597	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		A	71351148	C	A	71351148	2	1	528	1	0	0	0	0	0	0	0	1	13281	610	22	4		4	RGAG4	23	71351148	Silent	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	7782516	71351148	83919412	62	28253											
ARMCX3	51566	hgsc.bcm.edu;ucsc.edu	37	X	100880719	100880719	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chrX:100880719delT	ENST00000341189.4	+	5	1616	c.750delT	c.(748-750)cgtfs	p.R250fs	ARMCX3_ENST00000537169.1_Frame_Shift_Del_p.R250fs|ARMCX3_ENST00000471229.2_Frame_Shift_Del_p.R250fs|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	250					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ACTTTTTTCGTTTATTTTCAG	0.413																																																0													81	72	75					X																	100880719		2203	4300	6503	SO:0001589	frameshift_variant	51566			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.750delT	X.37:g.100880719delT	ENSP00000340672:p.Arg250fs		Q53HC6|Q7LCF5|Q9NPE4	Frame_Shift_Del	DEL	ENST00000341189.4	37	CCDS14489.1																																																																																				0.413	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		-	100880719	T	-	100880719	7	5	528	1	0	1	0	1	0	0	0	0	961	1712	60	0	752	0	ARMCX3	23	100880719	Frame_Shift_Del	DEL	T	TCGA-CJ-4905-01A-02D-1429-08	29529571	100880719	54389841	63	28254											
GUCY2F	2986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	108691325	108691325	+	Silent	SNP	C	C	T	rs367902822		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chrX:108691325C>T	ENST00000218006.2	-	6	1833	c.1542G>A	c.(1540-1542)acG>acA	p.T514T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	514					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.T514T(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GATTGATAAACGTTACATCCT	0.408																																																1	Substitution - coding silent(1)	kidney(1)						C		2,3833		0,1,1,1631,570	158	134	142		1542	-8.3	0.3	X		142	0,6728		0,0,0,2428,1872	no	coding-synonymous	GUCY2F	NM_001522.2		0,1,1,4059,2442	TT,TC,T,CC,C		0.0,0.0522,0.0189		514/1109	108691325	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1542G>A	X.37:g.108691325C>T			Q9UJF1	Silent	SNP	ENST00000218006.2	37	CCDS14545.1																																																																																				0.408	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		T	108691325	C	T	108691325	2	4	528	1	0	0	0	0	0	0	0	1	6900	523	19	1		1	GUCY2F	23	108691325	Silent	SNP	C	TCGA-CJ-4905-01A-02D-1429-08	7810606	108691325	46579235	64	28255											
RAB33A	9363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129306270	129306270	+	Silent	SNP	G	G	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chrX:129306270G>T	ENST00000257017.4	+	1	648	c.234G>T	c.(232-234)gtG>gtT	p.V78V		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	78					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V78V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						AGAAGACCGTGGAAATCGAGG	0.622																																																1	Substitution - coding silent(1)	kidney(1)											78	66	70					X																	129306270		2203	4300	6503	SO:0001819	synonymous_variant	9363			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.234G>T	X.37:g.129306270G>T			Q5JUZ6|Q92465	Silent	SNP	ENST00000257017.4	37	CCDS14621.1																																																																																				0.622	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		T	129306270	G	T	129306270	2	4	528	1	0	0	0	0	0	0	0	1	12928	1335	47	4		4	RAB33A	23	129306270	Silent	SNP	G	TCGA-CJ-4905-01A-02D-1429-08	20614945	129306270	25964290	65	28256											
TAS1R3	83756	broad.mit.edu;hgsc.bcm.edu	37	1	1267928	1267928	+	Silent	SNP	G	G	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr1:1267928G>A	ENST00000339381.5	+	3	1049	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	339					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.K339K(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		AGTACGTGAAGACGCACCTGG	0.697																																																1	Substitution - coding silent(1)	kidney(1)											34	36	35					1																	1267928		2199	4292	6491	SO:0001819	synonymous_variant	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1017G>A	1.37:g.1267928G>A			Q5TA49|Q8NGW9	Silent	SNP	ENST00000339381.5	37	CCDS30556.1																																																																																				0.697	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			A	1267928	G	A	1267928	2	1	529	1	0	0	0	0	0	0	0	1	15569	933	33	2		2	TAS1R3	1	1267928	Silent	SNP	G	TCGA-CJ-4907-01A-01D-1429-08		1267928	247982693	1	28257											
MTOR	2475	broad.mit.edu	37	1	11217230	11217230	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr1:11217230C>A	ENST00000361445.4	-	30	4524	c.4448G>T	c.(4447-4449)tGc>tTc	p.C1483F		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1483	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.C1483F(2)|p.C1483Y(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGCCTCGAGGCAGCGCATGCG	0.527																																																3	Substitution - Missense(3)	kidney(3)											191	177	182					1																	11217230		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4448G>T	1.37:g.11217230C>A	ENSP00000354558:p.Cys1483Phe		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600766	0.87055	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.69806	-0.43	5.32	5.32	0.75619	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82047	0.4952	M	0.91920	3.255	0.80722	D	1	D	0.59357	0.985	P	0.52627	0.704	D	0.86849	0.2022	10	0.87932	D	0	-11.9694	19.0009	0.92834	0.0:1.0:0.0:0.0	.	1483	P42345	MTOR_HUMAN	F	1483	ENSP00000354558:C1483F	ENSP00000354558:C1483F	C	-	2	0	MTOR	11139817	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.414000	0.80117	2.486000	0.83907	0.655000	0.94253	TGC		0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		A	11217230	C	A	11217230	3	1	529	1	0	0	0	0	1	0	0	0	9956	710	25	4	3317	4	MTOR	1	11217230	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	9949302	11217230	238033391	2	28258											
PLEKHM2	23207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16058448	16058448	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr1:16058448A>C	ENST00000375799.3	+	17	2757	c.2530A>C	c.(2530-2532)Att>Ctt	p.I844L	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.I824L|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	844	Interaction with sifA.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)	p.I844L(1)|p.I947L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTTCCAGGTCATTCTCTCCGA	0.667																																																2	Substitution - Missense(2)	kidney(2)											23	31	28					1																	16058448		2095	4195	6290	SO:0001583	missense	23207			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2530A>C	1.37:g.16058448A>C	ENSP00000364956:p.Ile844Leu		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.476875	0.63849	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.74947	-0.89;-0.89	5.27	2.93	0.34026	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.060042	0.64402	D	0.000003	T	0.65386	0.2686	L	0.33485	1.01	0.53005	D	0.999966	B	0.34241	0.444	B	0.42625	0.393	T	0.52946	-0.8507	10	0.17369	T	0.5	-10.2524	9.2979	0.37827	0.8526:0.0:0.1474:0.0	.	844	Q8IWE5	PKHM2_HUMAN	L	844;824	ENSP00000364956:I844L;ENSP00000364950:I824L	ENSP00000364950:I824L	I	+	1	0	PLEKHM2	15931035	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.830000	0.39131	0.323000	0.23307	0.459000	0.35465	ATT		0.667	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		C	16058448	A	C	16058448	3	2	529	1	0	0	0	0	1	0	0	0	12083	217	8	5	2596	5	PLEKHM2	1	16058448	Missense_Mutation	SNP	A	TCGA-CJ-4907-01A-01D-1429-08	4841218	16058448	233192173	3	28259											
EPHA8	2046	broad.mit.edu	37	1	22902868	22902868	+	Silent	SNP	C	C	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr1:22902868C>T	ENST00000166244.3	+	3	390	c.318C>T	c.(316-318)cgC>cgT	p.R106R	EPHA8_ENST00000374644.4_Silent_p.R106R|EPHA8_ENST00000538803.1_Silent_p.R106R	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	106	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R106R(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTACCCTGCGCGACTGCAACA	0.622																																																2	Substitution - coding silent(2)	kidney(2)											60	59	59					1																	22902868		2203	4300	6503	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.318C>T	1.37:g.22902868C>T			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.622	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		T	22902868	C	T	22902868	2	4	529	1	0	0	0	0	0	0	0	1	5175	755	27	1		1	EPHA8	1	22902868	Silent	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	6844420	22902868	226347753	4	28260											
EXTL1	2134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26357724	26357724	+	Silent	SNP	C	C	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr1:26357724C>T	ENST00000374280.3	+	5	2070	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	401					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.P401P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCACAAGCCCCCAGGACTTCC	0.587																																																1	Substitution - coding silent(1)	kidney(1)											69	69	69					1																	26357724		2203	4300	6503	SO:0001819	synonymous_variant	2134			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1203C>T	1.37:g.26357724C>T			Q6GSC1	Silent	SNP	ENST00000374280.3	37	CCDS271.1																																																																																				0.587	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		T	26357724	C	T	26357724	2	4	529	1	0	0	0	0	0	0	0	1	5327	610	22	2		2	EXTL1	1	26357724	Silent	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	3454856	26357724	222892897	5	28261											
PLEKHH2	130271	hgsc.bcm.edu;ucsc.edu	37	2	43939458	43939458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr2:43939458delA	ENST00000282406.4	+	15	2506	c.2396delA	c.(2395-2397)caafs	p.Q799fs		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	799					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTCGAGTACAAGCTGCCAAC	0.463																																																0													121	107	112					2																	43939458		2203	4300	6503	SO:0001589	frameshift_variant	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2396delA	2.37:g.43939458delA	ENSP00000282406:p.Gln799fs		Q5JPJ6|Q6P4Q1|Q8N3Q3	Frame_Shift_Del	DEL	ENST00000282406.4	37	CCDS1812.1																																																																																				0.463	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		-	43939458	A	-	43939458	7	5	529	1	0	1	0	1	0	0	0	0	12079	130	5	0	2450	0	PLEKHH2	2	43939458	Frame_Shift_Del	DEL	A	TCGA-CJ-4907-01A-01D-1429-08		43939458	199259915	6	28262											
GCC2	9648	broad.mit.edu;hgsc.bcm.edu	37	2	109113518	109113518	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr2:109113518C>G	ENST00000309863.6	+	21	5449	c.4735C>G	c.(4735-4737)Ctt>Gtt	p.L1579V		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1579	Mediates interaction with RAB6A.|Mediates interaction with RAB9A.				Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.L1579V(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAACGGCCTGCTTCGGGAAAC	0.448																																																1	Substitution - Missense(1)	kidney(1)											116	122	120					2																	109113518		2203	4300	6503	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4735C>G	2.37:g.109113518C>G	ENSP00000307939:p.Leu1579Val		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759321	0.69763	.	.	ENSG00000135968	ENST00000309863	T	0.50548	0.74	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	T	0.66742	0.2820	M	0.72118	2.19	0.52099	D	0.999943	D	0.67145	0.996	D	0.65140	0.932	T	0.64162	-0.6472	10	0.33141	T	0.24	.	18.9876	0.92779	0.0:1.0:0.0:0.0	.	1579	Q8IWJ2	GCC2_HUMAN	V	1579	ENSP00000307939:L1579V	ENSP00000307939:L1579V	L	+	1	0	GCC2	108479950	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.369000	0.66138	2.550000	0.86006	0.561000	0.74099	CTT		0.448	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		G	109113518	C	G	109113518	3	3	529	1	0	0	0	0	1	0	0	0	6288	797	28	4	4817	4	GCC2	2	109113518	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	65174060	109113518	134085855	7	28263											
THSD7B	80731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	138033572	138033572	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr2:138033572T>A	ENST00000409968.1	+	12	2654	c.2476T>A	c.(2476-2478)Tgt>Agt	p.C826S	THSD7B_ENST00000413152.2_Missense_Mutation_p.C795S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.C826S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	826	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.C826S(1)|p.C795S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGTGAAGCCTGTGGAAAGGG	0.398																																																2	Substitution - Missense(2)	kidney(2)											94	101	99					2																	138033572		1868	4101	5969	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2476T>A	2.37:g.138033572T>A	ENSP00000387145:p.Cys826Ser			Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	T	23.5	4.419104	0.83559	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.79033	-1.23;-1.23;-1.23	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.89139	0.6630	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90736	0.4646	10	0.87932	D	0	.	15.307	0.74001	0.0:0.0:0.0:1.0	.	826;795	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	826;826;795	ENSP00000387145:C826S;ENSP00000272643:C826S;ENSP00000413841:C795S	ENSP00000272643:C826S	C	+	1	0	THSD7B	137750042	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.081000	0.76844	2.254000	0.74563	0.460000	0.39030	TGT		0.398	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	138033572	T	A	138033572	3	1	529	1	0	0	0	0	1	0	0	0	15885	1580	55	5	2425	5	THSD7B	2	138033572	Missense_Mutation	SNP	T	TCGA-CJ-4907-01A-01D-1429-08	28920054	138033572	105165801	8	28264											
TTN	7273	broad.mit.edu;hgsc.bcm.edu	37	2	179558720	179558720	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr2:179558720G>T	ENST00000591111.1	-	116	30715	c.30491C>A	c.(30490-30492)aCa>aAa	p.T10164K	TTN_ENST00000589042.1_Missense_Mutation_p.T10481K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T9237K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				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)	p.T9237K(1)		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)			CATCTTCTTTGTATGCACAGC	0.373																																																1	Substitution - Missense(1)	kidney(1)											107	93	97					2																	179558720		1855	4096	5951	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30491C>A	2.37:g.179558720G>T	ENSP00000465570:p.Thr10164Lys		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.83	2.652524	0.47362	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.66815	-0.23	6.16	6.16	0.99307	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.55593	0.1930	N	0.14661	0.345	0.80722	D	1	B;P	0.49783	0.048;0.928	B;B	0.44085	0.031;0.44	T	0.62798	-0.6778	9	0.87932	D	0	.	16.3599	0.83257	0.0:0.0:1.0:0.0	.	10164;10164	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	K	9237;359	ENSP00000343764:T9237K	ENSP00000343764:T9237K	T	-	2	0	TTN	179266965	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.484000	0.60271	2.937000	0.99478	0.650000	0.86243	ACA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179558720	G	T	179558720	3	4	529	1	0	0	0	0	1	0	0	0	16740	1377	48	4	73067	4	TTN	2	179558720	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	41525148	179558720	63640653	9	28265											
STT3B	201595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	31658488	31658488	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr3:31658488G>C	ENST00000295770.2	+	7	1253	c.1044G>C	c.(1042-1044)gaG>gaC	p.E348D	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	348					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.E348D(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CAAAACAAGAGTTCCAGACCC	0.398																																																1	Substitution - Missense(1)	kidney(1)											212	214	213					3																	31658488		2203	4300	6503	SO:0001583	missense	201595			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1044G>C	3.37:g.31658488G>C	ENSP00000295770:p.Glu348Asp		Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121478	0.37436	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.44	0.157	0.14915	.	0.000000	0.85682	D	0.000000	T	0.40040	0.1101	L	0.31845	0.965	0.51767	D	0.999935	B	0.12013	0.005	B	0.18561	0.022	T	0.06862	-1.0803	9	0.36615	T	0.2	-14.109	6.7845	0.23665	0.5292:0.0:0.3519:0.1189	.	348	Q8TCJ2	STT3B_HUMAN	D	348	.	ENSP00000295770:E348D	E	+	3	2	STT3B	31633492	1.000000	0.71417	0.991000	0.47740	0.870000	0.49936	0.994000	0.29693	-0.280000	0.09154	-1.199000	0.01669	GAG		0.398	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		C	31658488	G	C	31658488	3	2	529	1	0	0	0	0	1	0	0	0	15339	1020	36	4	1070	4	STT3B	3	31658488	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08		31658488	166363942	10	28266											
KIAA2018	205717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113374665	113374665	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr3:113374665G>T	ENST00000478658.1	-	5	5881	c.5864C>A	c.(5863-5865)tCt>tAt	p.S1955Y	KIAA2018_ENST00000316407.4_Missense_Mutation_p.S1955Y|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1955						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S1955Y(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATGAGACACAGATGGATGTGG	0.537																																																1	Substitution - Missense(1)	kidney(1)											94	91	92					3																	113374665		2146	4252	6398	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5864C>A	3.37:g.113374665G>T	ENSP00000420721:p.Ser1955Tyr		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	g	15.30	2.793730	0.50102	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.16743	2.32;2.32	5.56	5.56	0.83823	.	0.354630	0.29529	N	0.011895	T	0.20007	0.0481	N	0.24115	0.695	0.49213	D	0.999766	D	0.56521	0.976	P	0.47744	0.556	T	0.00888	-1.1526	10	0.62326	D	0.03	-4.7613	19.8795	0.96891	0.0:0.0:1.0:0.0	.	1955	Q68DE3	K2018_HUMAN	Y	1955	ENSP00000320794:S1955Y;ENSP00000420721:S1955Y	ENSP00000320794:S1955Y	S	-	2	0	KIAA2018	114857355	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.150000	0.77403	2.775000	0.95449	0.558000	0.71614	TCT		0.537	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		T	113374665	G	T	113374665	3	4	529	1	0	0	0	0	1	0	0	0	8270	942	33	4	877	4	KIAA2018	3	113374665	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	81716177	113374665	84647765	11	28267											
IGSF11	152404	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	118621704	118621704	+	Missense_Mutation	SNP	C	C	T	rs374674136		TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr3:118621704C>T	ENST00000393775.2	-	7	1264	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	IGSF11_ENST00000441144.2_Missense_Mutation_p.R295Q|IGSF11_ENST00000425327.2_Missense_Mutation_p.R319Q|IGSF11_ENST00000354673.2_Missense_Mutation_p.R319Q|IGSF11_ENST00000489689.1_Missense_Mutation_p.R296Q|IGSF11_ENST00000491903.1_Missense_Mutation_p.R292Q	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	320					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R319Q(1)|p.R320Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCTCCAGTATCGACTGTTGTA	0.458																																																2	Substitution - Missense(2)	kidney(2)						C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	136	141	139		959,956	4.5	1	3		139	0,8600		0,0,4300	no	missense,missense	IGSF11	NM_001015887.1,NM_152538.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	320/432,319/431	118621704	1,13005	2203	4300	6503	SO:0001583	missense	152404			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.959G>A	3.37:g.118621704C>T	ENSP00000377370:p.Arg320Gln		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691748	0.68271	2.27E-4	0.0	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.84223	-0.93;-1.15;-1.82;-0.93;-1.76;-1.65	5.37	4.5	0.54988	.	0.168025	0.53938	N	0.000044	D	0.84669	0.5523	L	0.29908	0.895	0.53005	D	0.999963	D;B;D;B;D	0.89917	0.999;0.032;1.0;0.076;0.999	P;B;D;B;P	0.66847	0.886;0.01;0.947;0.007;0.886	T	0.80859	-0.1194	10	0.20519	T	0.43	.	9.5885	0.39532	0.0:0.8432:0.0:0.1568	.	292;295;319;296;320	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	Q	319;320;296;319;295;292	ENSP00000406092:R319Q;ENSP00000377370:R320Q;ENSP00000420486:R296Q;ENSP00000346700:R319Q;ENSP00000401240:R295Q;ENSP00000417413:R292Q	ENSP00000346700:R319Q	R	-	2	0	IGSF11	120104394	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.937000	0.48979	1.520000	0.48965	0.655000	0.94253	CGA		0.458	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			T	118621704	C	T	118621704	3	4	529	1	0	0	0	0	1	0	0	0	7600	884	31	1	340	1	IGSF11	3	118621704	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	5247039	118621704	79400726	12	28268											
DRD5	1816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	9784913	9784913	+	Silent	SNP	C	C	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr4:9784913C>T	ENST00000304374.2	+	1	1656	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	420					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.P420P(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCGTTACCCCCGGCAACCGGG	0.547																																																1	Substitution - coding silent(1)	kidney(1)											90	77	82					4																	9784913		2203	4300	6503	SO:0001819	synonymous_variant	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1260C>T	4.37:g.9784913C>T			B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	CCDS3405.1																																																																																				0.547	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			T	9784913	C	T	9784913	2	4	529	1	0	0	0	0	0	0	0	1	4762	639	23	1		1	DRD5	4	9784913	Silent	SNP	C	TCGA-CJ-4907-01A-01D-1429-08		9784913	181369363	13	28269											
CENPC1	1060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	68380078	68380078	+	Silent	SNP	A	A	G			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr4:68380078A>G	ENST00000273853.6	-	8	1408	c.1158T>C	c.(1156-1158)gcT>gcC	p.A386A		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	386					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.A386A(1)									CACCTATCAAAGCATAACTTG	0.333																																																1	Substitution - coding silent(1)	kidney(1)											79	67	71					4																	68380078		1814	4083	5897	SO:0001819	synonymous_variant	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1158T>C	4.37:g.68380078A>G			Q8IW27|Q9P0M5	Silent	SNP	ENST00000273853.6	37	CCDS47063.1																																																																																				0.333	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			G	68380078	A	G	68380078	2	3	529	1	0	0	0	0	0	0	0	1	3231	59	3	3		3	CENPC1	4	68380078	Silent	SNP	A	TCGA-CJ-4907-01A-01D-1429-08	58595165	68380078	122774198	14	28270											
ADH1B	125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	100239948	100239948	+	Silent	SNP	G	G	C			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr4:100239948G>C	ENST00000305046.8	-	2	181	c.114C>G	c.(112-114)cgC>cgG	p.R38R	ADH1B_ENST00000394887.3_5'UTR|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	38					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.R38R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TCACCTTAATGCGAACTTCAT	0.348																																																1	Substitution - coding silent(1)	kidney(1)											69	67	68					4																	100239948		2203	4300	6503	SO:0001819	synonymous_variant	125			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.114C>G	4.37:g.100239948G>C			A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																				0.348	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		C	100239948	G	C	100239948	2	2	529	1	0	0	0	0	0	0	0	1	308	1306	46	4		4	ADH1B	4	100239948	Silent	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	31859870	100239948	90914328	15	28271											
NPNT	255743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	106819134	106819134	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr4:106819134C>T	ENST00000379987.2	+	2	364	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	NPNT_ENST00000305572.8_Missense_Mutation_p.R50C|NPNT_ENST00000427316.2_Missense_Mutation_p.R50C|NPNT_ENST00000453617.2_Missense_Mutation_p.R50C|NPNT_ENST00000514622.1_Missense_Mutation_p.R50C|NPNT_ENST00000506666.1_Missense_Mutation_p.R50C	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	50					branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.R50C(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GGGCTGGGCTCGCCAGTCTTG	0.522																																																1	Substitution - Missense(1)	kidney(1)											113	102	105					4																	106819134		2203	4300	6503	SO:0001583	missense	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.148C>T	4.37:g.106819134C>T	ENSP00000369323:p.Arg50Cys		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.533819|4.533819	0.85812|0.85812	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	T;T;T;T;T;T;T|.	0.79352|.	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84745|0.84745	0.5540|0.5540	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;0.997;0.994;0.981;1.0;0.996|.	D;P;P;P;D;P|.	0.85130|.	0.984;0.816;0.816;0.726;0.997;0.724|.	D|D	0.86348|0.86348	0.1709|0.1709	10|5	0.45353|.	T|.	0.12|.	.|.	18.854|18.854	0.92244|0.92244	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	50;50;50;50;50;50|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;NPNT_HUMAN|.	C|L	50|26	ENSP00000369323:R50C;ENSP00000402884:R50C;ENSP00000389252:R50C;ENSP00000422044:R50C;ENSP00000302557:R50C;ENSP00000422474:R50C;ENSP00000426146:R50C|.	ENSP00000302557:R50C|.	R|S	+|+	1|2	0|0	NPNT|NPNT	107038583|107038583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	3.860000|3.860000	0.55995|0.55995	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		T	106819134	C	T	106819134	3	4	529	1	0	0	0	0	1	0	0	0	10592	884	31	1	154	1	NPNT	4	106819134	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	6579186	106819134	84335142	16	28272											
COL25A1	84570	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	109783657	109783657	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr4:109783657C>T	ENST00000399132.1	-	22	1727	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	COL25A1_ENST00000399127.1_Intron|COL25A1_ENST00000399126.1_Splice_Site_p.K399K	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.K399K(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGTTACTGACCTTTGACCCCT	0.368																																																2	Substitution - coding silent(2)	kidney(2)											251	237	241					4																	109783657		1832	4092	5924	SO:0001630	splice_region_variant	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1197+1G>A	4.37:g.109783657C>T				Silent	SNP	ENST00000399132.1	37	CCDS43258.1																																																																																				0.368	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	Silent	T	109783657	C	T	109783657	5	4	529	1	0	0	0	0	0	0	1	0	3686	695	24	2	919	2	COL25A1	4	109783657	Splice_Site	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	2964523	109783657	81370619	17	28273											
ZCCHC9	84240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	80600797	80600797	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr5:80600797G>T	ENST00000254037.2	+	1	3376	c.221G>T	c.(220-222)gGa>gTa	p.G74V	ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.G74V|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.G74V|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.G74V			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	74					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G74V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		GATGTGAATGGATTCATGGAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											82	82	82					5																	80600797		2203	4300	6503	SO:0001583	missense	84240			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"Zinc fingers, CCHC domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25424	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 41"					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.221G>T	5.37:g.80600797G>T	ENSP00000254037:p.Gly74Val		B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500352	0.85176	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.69940	0.3167	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.72988	-0.4124	10	0.87932	D	0	-18.8778	18.9545	0.92653	0.0:0.0:1.0:0.0	.	74	Q8N567	ZCHC9_HUMAN	V	74	ENSP00000254037:G74V;ENSP00000385047:G74V;ENSP00000369546:G74V;ENSP00000412637:G74V	ENSP00000254037:G74V	G	+	2	0	ZCCHC9	80636553	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.754000	0.91642	2.544000	0.85801	0.655000	0.94253	GGA		0.363	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		T	80600797	G	T	80600797	3	4	529	1	0	0	0	0	1	0	0	0	17600	1174	41	4	223	4	ZCCHC9	5	80600797	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08		80600797	100314463	18	28274											
DMXL1	1657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	118484562	118484562	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr5:118484562A>G	ENST00000311085.8	+	18	3120	c.3040A>G	c.(3040-3042)Aat>Gat	p.N1014D	DMXL1_ENST00000539542.1_Missense_Mutation_p.N1014D	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1014								p.N1014D(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CACGTCAAAGAATGGAAAAAT	0.398																																																1	Substitution - Missense(1)	kidney(1)											127	121	123					5																	118484562		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3040A>G	5.37:g.118484562A>G	ENSP00000309690:p.Asn1014Asp			Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	0.232	-1.019948	0.02078	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.31247	1.5;1.5	5.5	4.34	0.51931	.	0.362712	0.29093	N	0.013170	T	0.11067	0.0270	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29212	-1.0019	10	0.12430	T	0.62	-15.9349	5.394	0.16259	0.6469:0.1394:0.2137:0.0	.	1014;1014	F5H269;Q9Y485	.;DMXL1_HUMAN	D	1014	ENSP00000309690:N1014D;ENSP00000439479:N1014D	ENSP00000309690:N1014D	N	+	1	0	DMXL1	118512461	0.001000	0.12720	0.976000	0.42696	0.476000	0.33039	0.301000	0.19174	1.023000	0.39654	0.533000	0.62120	AAT		0.398	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		G	118484562	A	G	118484562	3	3	529	1	0	0	0	0	1	0	0	0	4596	246	9	3	3110	3	DMXL1	5	118484562	Missense_Mutation	SNP	A	TCGA-CJ-4907-01A-01D-1429-08	37883765	118484562	62430698	19	28275											
BRD8	10902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137502346	137502346	+	Silent	SNP	A	A	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr5:137502346A>T	ENST00000254900.5	-	10	1229	c.858T>A	c.(856-858)acT>acA	p.T286T	BRD8_ENST00000402931.1_Silent_p.T286T|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000230901.5_Silent_p.T359T|BRD8_ENST00000455658.2_Silent_p.T245T|BRD8_ENST00000411594.2_Intron	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	286					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.T286T(1)|p.T359T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGCAACAGTAGTGAAGGAAG	0.502																																																2	Substitution - coding silent(2)	kidney(2)											75	65	68					5																	137502346		2203	4300	6503	SO:0001819	synonymous_variant	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.858T>A	5.37:g.137502346A>T			O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	CCDS4198.1																																																																																				0.502	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		T	137502346	A	T	137502346	2	4	529	1	0	0	0	0	0	0	0	1	1508	407	15	5		5	BRD8	5	137502346	Silent	SNP	A	TCGA-CJ-4907-01A-01D-1429-08	19017784	137502346	43412914	20	28276											
FAT2	2196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150925180	150925180	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr5:150925180G>C	ENST00000261800.5	-	9	5520	c.5508C>G	c.(5506-5508)ttC>ttG	p.F1836L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1836	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F1836L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACAGAATTGGAAAGAGGGCA	0.448																																																1	Substitution - Missense(1)	kidney(1)											67	72	70					5																	150925180		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5508C>G	5.37:g.150925180G>C	ENSP00000261800:p.Phe1836Leu		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887023	0.33348	.	.	ENSG00000086570	ENST00000261800	T	0.52983	0.64	5.07	3.26	0.37387	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000015	T	0.47395	0.1443	M	0.74389	2.26	0.45216	D	0.99822	B	0.16603	0.018	B	0.22386	0.039	T	0.40887	-0.9539	10	0.44086	T	0.13	.	10.3989	0.44218	0.0737:0.135:0.7913:0.0	.	1836	Q9NYQ8	FAT2_HUMAN	L	1836	ENSP00000261800:F1836L	ENSP00000261800:F1836L	F	-	3	2	FAT2	150905373	1.000000	0.71417	0.941000	0.38009	0.909000	0.53808	2.448000	0.44926	0.513000	0.28278	0.467000	0.42956	TTC		0.448	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		C	150925180	G	C	150925180	3	2	529	1	0	0	0	0	1	0	0	0	5692	1165	41	4	7601	4	FAT2	5	150925180	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	13422834	150925180	29990080	21	28277											
STK10	6793	broad.mit.edu;hgsc.bcm.edu	37	5	171481605	171481605	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr5:171481605C>G	ENST00000176763.5	-	17	2963	c.2620G>C	c.(2620-2622)Gag>Cag	p.E874Q		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	874	Gln-rich.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.E874Q(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGTTGCTCTCACACTGCGCC	0.627																																																1	Substitution - Missense(1)	kidney(1)											115	97	103					5																	171481605		2203	4300	6503	SO:0001583	missense	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2620G>C	5.37:g.171481605C>G	ENSP00000176763:p.Glu874Gln		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265341	0.80358	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.33438	1.41	4.75	4.75	0.60458	.	0.251645	0.38605	N	0.001625	T	0.50939	0.1645	L	0.58428	1.81	0.45607	D	0.998549	D	0.67145	0.996	D	0.69142	0.962	T	0.54153	-0.8336	10	0.87932	D	0	.	15.619	0.76790	0.0:1.0:0.0:0.0	.	874	O94804	STK10_HUMAN	Q	874	ENSP00000176763:E874Q	ENSP00000176763:E874Q	E	-	1	0	STK10	171414210	1.000000	0.71417	0.958000	0.39756	0.711000	0.40976	7.771000	0.85420	2.340000	0.79590	0.561000	0.74099	GAG		0.627	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		G	171481605	C	G	171481605	3	3	529	1	0	0	0	0	1	0	0	0	15291	835	29	4	298	4	STK10	5	171481605	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	20556425	171481605	9433655	22	28278											
DTNBP1	84062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	15627643	15627643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr6:15627643C>A	ENST00000344537.5	-	5	458	c.286G>T	c.(286-288)Gag>Tag	p.E96*	DTNBP1_ENST00000355917.3_Nonsense_Mutation_p.E96*|DTNBP1_ENST00000338950.5_Nonsense_Mutation_p.E96*	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	96					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)		p.E96*(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCTTGCAGCTCCACGAGGCTT	0.488									Hermansky-Pudlak syndrome																																							2	Substitution - Nonsense(2)	kidney(2)											44	46	45					6																	15627643		2203	4300	6503	SO:0001587	stop_gained	84062	Familial Cancer Database	HPS, HPS1-8	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"Biogenesis of lysosomal organelles complex-1 subunits"	17328	protein-coding gene	gene with protein product	"dysbindin-1", "biogenesis of lysosomal organelles complex-1, subunit 8"	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.286G>T	6.37:g.15627643C>A	ENSP00000341680:p.Glu96*		A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Nonsense_Mutation	SNP	ENST00000344537.5	37	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284429	0.80803	.	.	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000397306;ENST00000511762;ENST00000338950;ENST00000543749	.	.	.	5.58	5.58	0.84498	.	0.435086	0.20347	N	0.094138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.3295	0.90263	0.0:1.0:0.0:0.0	.	.	.	.	X	96;96;15;61;96;96	.	ENSP00000344718:E96X	E	-	1	0	DTNBP1	15735622	0.998000	0.40836	0.101000	0.21167	0.023000	0.10783	4.258000	0.58822	2.637000	0.89404	0.650000	0.86243	GAG		0.488	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		A	15627643	C	A	15627643	4	1	529	1	0	0	0	0	0	1	0	0	4792	864	30	4	894	4	DTNBP1	6	15627643	Nonsense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08		15627643	155487424	23	28279											
ATF6B	1388	broad.mit.edu	37	6	32095464	32095464	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr6:32095464G>C	ENST00000375203.3	-	2	187	c.155C>G	c.(154-156)cCg>cGg	p.P52R	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Missense_Mutation_p.P49R	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	52	Transcription activation.				response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P52R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ATCCTGCTCCGGGCAACGGAA	0.572																																																1	Substitution - Missense(1)	kidney(1)											87	88	88					6																	32095464		2203	4300	6503	SO:0001583	missense	1388				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.155C>G	6.37:g.32095464G>C	ENSP00000364349:p.Pro52Arg		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065965	0.36470	.	.	ENSG00000213676	ENST00000375192;ENST00000375203;ENST00000375201	T;T	0.57752	0.38;1.14	4.76	-0.249	0.13011	.	0.760810	0.11305	U	0.577804	T	0.37544	0.1007	L	0.53249	1.67	0.09310	N	0.999991	D;B;P	0.58620	0.983;0.302;0.64	P;B;B	0.61132	0.884;0.223;0.238	T	0.13282	-1.0515	10	0.23891	T	0.37	-0.4784	3.2125	0.06687	0.5533:0.0:0.2287:0.218	.	52;49;52	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	R	52;52;49	ENSP00000364349:P52R;ENSP00000364347:P49R	ENSP00000364338:P52R	P	-	2	0	ATF6B	32203442	0.126000	0.22350	0.570000	0.28473	0.934000	0.57294	0.218000	0.17622	0.058000	0.16222	-0.274000	0.10170	CCG		0.572	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			C	32095464	G	C	32095464	3	2	529	1	0	0	0	0	1	0	0	0	1085	1116	39	4	2024	4	ATF6B	6	32095464	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	16467821	32095464	139019603	24	28280											
CNKSR3	154043	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	154743778	154743778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr6:154743778C>T	ENST00000607772.1	-	9	1351	c.807G>A	c.(805-807)tgG>tgA	p.W269*	CNKSR3_ENST00000479339.1_Nonsense_Mutation_p.W189*|CNKSR3_ENST00000433165.2_Nonsense_Mutation_p.W94*	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	269	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.W269*(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TTTTCAGCTGCCATCCCACCT	0.463																																																1	Substitution - Nonsense(1)	kidney(1)											52	56	54					6																	154743778		2203	4300	6503	SO:0001587	stop_gained	154043			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.807G>A	6.37:g.154743778C>T	ENSP00000475915:p.Trp269*		Q5SGD5|Q96N65	Nonsense_Mutation	SNP	ENST00000607772.1	37	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	39	7.905263	0.98554	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998;ENST00000454664	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6373	0.95740	0.0:1.0:0.0:0.0	.	.	.	.	X	44;269;94;189;31;94	.	ENSP00000356178:W44X	W	-	3	0	CNKSR3	154785470	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.416000	0.80143	2.636000	0.89361	0.655000	0.94253	TGG		0.463	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		T	154743778	C	T	154743778	4	4	529	1	0	0	0	0	0	1	0	0	3610	740	26	2	880	2	CNKSR3	6	154743778	Nonsense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	122648314	154743778	16371289	25	28281											
MAP3K4	4216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	161513128	161513128	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr6:161513128G>T	ENST00000392142.4	+	13	3370	c.3222G>T	c.(3220-3222)atG>atT	p.M1074I	MAP3K4_ENST00000348824.7_Missense_Mutation_p.M1074I|MAP3K4_ENST00000366919.2_Missense_Mutation_p.M1074I|MAP3K4_ENST00000366920.2_Missense_Mutation_p.M1074I	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1074					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.M1074I(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGAAGTGGATGAATTATGTCC	0.398																																																2	Substitution - Missense(2)	kidney(2)											210	221	217					6																	161513128		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3222G>T	6.37:g.161513128G>T	ENSP00000375986:p.Met1074Ile		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616573	0.87359	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.75154	-0.9;-0.83;-0.9;-0.91	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	M	0.71036	2.16	0.80722	D	1	P;B;D;D	0.61080	0.942;0.349;0.962;0.989	P;B;D;D	0.68483	0.885;0.061;0.946;0.958	T	0.77566	-0.2540	10	0.30854	T	0.27	-48.2391	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1074;64;1074;1074	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	I	1074	ENSP00000355886:M1074I;ENSP00000375986:M1074I;ENSP00000355887:M1074I;ENSP00000297332:M1074I	ENSP00000297332:M1074I	M	+	3	0	MAP3K4	161433118	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	ATG		0.398	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			T	161513128	G	T	161513128	3	4	529	1	0	0	0	0	1	0	0	0	9254	1290	45	4	3272	4	MAP3K4	6	161513128	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	6769350	161513128	9601939	26	28282											
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48556330	48556330	+	Silent	SNP	T	T	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr7:48556330T>A	ENST00000435803.1	+	52	13674	c.13650T>A	c.(13648-13650)acT>acA	p.T4550T	ABCA13_ENST00000544596.1_Silent_p.T280T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4550					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T4495T(1)|p.T4550T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATATGCAACTCTTCCATGGA	0.378																																																2	Substitution - coding silent(2)	kidney(2)											259	253	255					7																	48556330		1883	4105	5988	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13650T>A	7.37:g.48556330T>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	8.889	0.953638	0.18431	.	.	ENSG00000179869	ENST00000435451	.	.	.	5.35	-3.32	0.04973	.	.	.	.	.	T	0.36580	0.0972	.	.	.	0.42422	D	0.992644	.	.	.	.	.	.	T	0.34254	-0.9836	4	.	.	.	.	0.6793	0.00872	0.2164:0.1906:0.3374:0.2555	.	.	.	.	T	71	.	.	S	+	1	0	ABCA13	48526876	0.023000	0.18921	0.032000	0.17829	0.940000	0.58332	-1.017000	0.03630	-0.506000	0.06558	0.533000	0.62120	TCT		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48556330	T	A	48556330	2	1	529	1	0	0	0	0	0	0	0	1	31	1538	54	5		5	ABCA13	7	48556330	Silent	SNP	T	TCGA-CJ-4907-01A-01D-1429-08		48556330	110582333	27	28283											
LRGUK	136332	hgsc.bcm.edu;ucsc.edu	37	7	133848194	133848198	+	Frame_Shift_Del	DEL	GCCCT	GCCCT	-			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	GCCCT	GCCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr7:133848194_133848198delGCCCT	ENST00000285928.2	+	7	910_914	c.841_845delGCCCT	c.(841-846)gccctgfs	p.AL281fs		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	281						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGATCTGAAAGCCCTGCAGAACCTG	0.415																																																0																																										SO:0001589	frameshift_variant	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.841_845delGCCCT	7.37:g.133848194_133848198delGCCCT	ENSP00000285928:p.Ala281fs		Q2M3I1	Frame_Shift_Del	DEL	ENST00000285928.2	37	CCDS5830.1																																																																																				0.415	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		-	133848198	GCCCT	-	133848194	7	5	529	1	0	1	0	1	0	0	0	0	8945	971	34	0	867	0	LRGUK	7	133848194	Frame_Shift_Del	DEL	GCCCT	TCGA-CJ-4907-01A-01D-1429-08	85291864	133848194	25290469	28	28284											
CNOT4	4850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	135080392	135080392	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr7:135080392T>C	ENST00000315544.5	-	9	1402	c.1123A>G	c.(1123-1125)Aca>Gca	p.T375A	CNOT4_ENST00000541284.1_Missense_Mutation_p.T375A|CNOT4_ENST00000361528.4_Missense_Mutation_p.T372A|CNOT4_ENST00000428680.2_Missense_Mutation_p.T372A|CNOT4_ENST00000423368.2_Missense_Mutation_p.T375A|CNOT4_ENST00000414802.1_Missense_Mutation_p.T375A|CNOT4_ENST00000451834.1_Missense_Mutation_p.T372A|CNOT4_ENST00000356162.4_Missense_Mutation_p.T375A	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	375					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T375A(3)|p.T372A(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATACCTGATGTGAAGAGGCTC	0.433																																					Ovarian(51;766 1130 5502 35047 50875)											4	Substitution - Missense(4)	kidney(4)											143	151	148					7																	135080392		1963	4160	6123	SO:0001583	missense	4850			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1123A>G	7.37:g.135080392T>C	ENSP00000326731:p.Thr375Ala		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777212	0.49786	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.8	5.8	0.92144	.	0.042444	0.85682	D	0.000000	T	0.30324	0.0761	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.11235	0.001;0.001;0.001;0.0;0.004;0.0	B;B;B;B;B;B	0.11329	0.002;0.004;0.001;0.001;0.006;0.001	T	0.09997	-1.0649	10	0.17369	T	0.5	-13.8326	15.3291	0.74193	0.0:0.0:0.0:1.0	.	372;375;375;372;375;372	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	A	375;372;375;375;372;375;375;372;375	ENSP00000445508:T375A;ENSP00000388491:T372A;ENSP00000406777:T375A;ENSP00000354673:T372A;ENSP00000416532:T375A;ENSP00000348485:T375A;ENSP00000399108:T372A;ENSP00000326731:T375A	ENSP00000262563:T375A	T	-	1	0	CNOT4	134730932	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.840000	0.62817	2.222000	0.72286	0.374000	0.22700	ACA		0.433	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		C	135080392	T	C	135080392	3	2	529	1	0	0	0	0	1	0	0	0	3623	1696	59	3	922	3	CNOT4	7	135080392	Missense_Mutation	SNP	T	TCGA-CJ-4907-01A-01D-1429-08	1232198	135080392	24058271	29	28285											
UBE3C	9690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	157049683	157049683	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr7:157049683G>A	ENST00000348165.5	+	22	3386	c.3026G>A	c.(3025-3027)cGc>cAc	p.R1009H		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1009	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1009H(2)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAAGAAAAGCGCAAACTGCTG	0.423																																																2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)											168	160	163					7																	157049683		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.3026G>A	7.37:g.157049683G>A	ENSP00000309198:p.Arg1009His		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106411	0.77096	.	.	ENSG00000009335	ENST00000348165	T	0.60299	0.2	5.67	5.67	0.87782	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80444	0.4624	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	T	0.79478	-0.1787	10	0.33141	T	0.24	.	19.7785	0.96405	0.0:0.0:1.0:0.0	.	1009;862	Q15386;B4DHJ9	UBE3C_HUMAN;.	H	1009	ENSP00000309198:R1009H	ENSP00000309198:R1009H	R	+	2	0	UBE3C	156742444	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	9.261000	0.95576	2.667000	0.90743	0.563000	0.77884	CGC		0.423	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		A	157049683	G	A	157049683	3	1	529	1	0	0	0	0	1	0	0	0	16886	1087	38	1	3112	1	UBE3C	7	157049683	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	21969291	157049683	2088980	30	28286											
PTPRN2	5799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	157985057	157985057	+	Missense_Mutation	SNP	C	C	T	rs137877535	byFrequency	TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr7:157985057C>T	ENST00000389418.4	-	5	520	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	PTPRN2_ENST00000389413.3_Missense_Mutation_p.A171T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A194T|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A133T|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A154T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	171					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A171T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGGTCCTGGCGAGCACGTCT	0.697													C|||	8	0.00159744	0.0	0.0072	5008	,	,		14951	0.0		0.0	False		,,,				2504	0.0031															1	Substitution - Missense(1)	kidney(1)							THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	38	44	42		511,460,511	-1.2	0	7	dbSNP_134	42	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	58,58,58	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	171/1016,154/999,171/987	157985057	2,13002	2203	4299	6502	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.511G>A	7.37:g.157985057C>T	ENSP00000374069:p.Ala171Thr		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	11.79	1.742541	0.30865	0.0	2.33E-4	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03272	4.0;3.99;4.01;4.0;4.0	4.17	-1.21	0.09524	.	.	.	.	.	T	0.01489	0.0048	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.001;0.001	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.48536	-0.9027	9	0.20046	T	0.44	.	1.9952	0.03455	0.1803:0.2879:0.3897:0.1421	.	194;133;171;154;171	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	133;171;154;171;194	ENSP00000387114:A133T;ENSP00000374064:A171T;ENSP00000374067:A154T;ENSP00000374069:A171T;ENSP00000385464:A194T	ENSP00000374064:A171T	A	-	1	0	PTPRN2	157677818	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.596000	0.24044	-0.399000	0.07668	-1.297000	0.01338	GCC		0.697	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			T	157985057	C	T	157985057	3	4	529	1	0	0	0	0	1	0	0	0	12814	768	27	1	2612	1	PTPRN2	7	157985057	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	935374	157985057	1153606	31	28287											
CSMD1	64478	broad.mit.edu	37	8	3216686	3216686	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr8:3216686G>A	ENST00000520002.1	-	22	3850	c.3295C>T	c.(3295-3297)Cca>Tca	p.P1099S	CSMD1_ENST00000537824.1_Missense_Mutation_p.P1098S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1099S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1098S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1099S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1098S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1099S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1099	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.P827S(1)|p.P1098S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACACCTTGGCAGAGGTGCA	0.592																																																2	Substitution - Missense(2)	kidney(2)											68	71	70					8																	3216686		2203	4300	6503	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3295C>T	8.37:g.3216686G>A	ENSP00000430733:p.Pro1099Ser		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	29.1|29.1	4.974930|4.974930	0.92919|0.92919	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.76968	.|-1.06;-1.06;-1.06;-1.06;-1.06	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93739|0.93739	0.7999|0.7999	H|H	0.99169|0.99169	4.455|4.455	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.97110	.|0.998;1.0;1.0	D|D	0.96422|0.96422	0.9312|0.9312	5|10	.|0.87932	.|D	.|0	.|.	19.067|19.067	0.93116|0.93116	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1099;1099;1099	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	V|S	578|1099;1099;961;1098;1098;1098	.|ENSP00000383047:P1099S;ENSP00000430733:P1099S;ENSP00000441462:P1098S;ENSP00000446243:P1098S;ENSP00000441675:P1098S	.|ENSP00000320445:P961S	A|P	-|-	2|1	0|0	CSMD1|CSMD1	3204093|3204093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.601000|9.601000	0.98297|0.98297	2.489000|2.489000	0.83994|0.83994	0.550000|0.550000	0.68814|0.68814	GCC|CCA		0.592	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		A	3216686	G	A	3216686	3	1	529	1	0	0	0	0	1	0	0	0	3946	1203	42	2	7602	2	CSMD1	8	3216686	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08		3216686	143147336	32	28288											
PSKH2	85481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87060713	87060713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr8:87060713G>T	ENST00000276616.2	-	3	1210	c.1136C>A	c.(1135-1137)tCg>tAg	p.S379*		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	379							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S379*(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGACAGTGGCGATTCTACTAT	0.433																																																1	Substitution - Nonsense(1)	kidney(1)											105	106	106					8																	87060713		2203	4300	6503	SO:0001587	stop_gained	85481			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.1136C>A	8.37:g.87060713G>T	ENSP00000276616:p.Ser379*		A0AV22	Nonsense_Mutation	SNP	ENST00000276616.2	37	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315796	0.60524	.	.	ENSG00000147613	ENST00000276616	.	.	.	4.17	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.21553	N	0.999642	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5709	0.27907	0.2188:0.0:0.7812:0.0	.	.	.	.	X	379	.	ENSP00000276616:S379X	S	-	2	0	PSKH2	87129829	0.989000	0.36119	0.035000	0.18076	0.187000	0.23431	2.021000	0.41020	1.038000	0.40049	0.591000	0.81541	TCG		0.433	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		T	87060713	G	T	87060713	4	4	529	1	0	0	0	0	0	1	0	0	12670	1059	37	4	23	4	PSKH2	8	87060713	Nonsense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	83844027	87060713	59303309	33	28289											
PABPC1	26986	broad.mit.edu;hgsc.bcm.edu	37	8	101719135	101719135	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr8:101719135A>T	ENST00000318607.5	-	10	2555	c.1427T>A	c.(1426-1428)gTc>gAc	p.V476D	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.V431D|PABPC1_ENST00000522387.1_Missense_Mutation_p.V444D	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	476					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.V476D(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGTTGACATGACTCGTGGAAC	0.393																																																1	Substitution - Missense(1)	kidney(1)											78	74	75					8																	101719135		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1427T>A	8.37:g.101719135A>T	ENSP00000313007:p.Val476Asp		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.800090|4.800090	0.90538|0.90538	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000520868;ENST00000517403|ENST00000318607;ENST00000519004;ENST00000522387;ENST00000522658	.|T;T;T;T	.|0.46819	.|1.66;1.56;2.63;0.86	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.56097	.|D	.|0.000021	T|T	0.45915|0.45915	0.1366|0.1366	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23540	.|0.037;0.087;0.022	.|B;B;B	.|0.21546	.|0.017;0.035;0.028	T|T	0.34153|0.34153	-0.9840|-0.9840	5|10	.|0.36615	.|T	.|0.2	.|.	16.1251|16.1251	0.81386|0.81386	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|444;476;476	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	T|D	9;129|476;431;444;23	.|ENSP00000313007:V476D;ENSP00000429594:V431D;ENSP00000429395:V444D;ENSP00000428840:V23D	.|ENSP00000313007:V476D	S|V	-|-	1|2	0|0	PABPC1|PABPC1	101788311|101788311	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.628000|8.628000	0.90979|0.90979	2.272000|2.272000	0.75746|0.75746	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.393	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		T	101719135	A	T	101719135	3	4	529	1	0	0	0	0	1	0	0	0	11365	275	10	5	503	5	PABPC1	8	101719135	Missense_Mutation	SNP	A	TCGA-CJ-4907-01A-01D-1429-08	14658422	101719135	44644887	34	28290											
MTSS1	9788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125565825	125565825	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr8:125565825C>T	ENST00000518547.1	-	14	2149	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	MTSS1_ENST00000524090.1_Missense_Mutation_p.R449Q|MTSS1_ENST00000325064.5_Missense_Mutation_p.R563Q|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.R277Q|MTSS1_ENST00000378017.3_Missense_Mutation_p.R534Q|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.R333Q|MTSS1_ENST00000431961.2_Missense_Mutation_p.R277Q	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	559					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R559Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAACATCCGTCGGTAGGACTG	0.557																																					Esophageal Squamous(160;622 1893 3862 8546 12509)											1	Substitution - Missense(1)	kidney(1)											81	56	64					8																	125565825		2203	4300	6503	SO:0001583	missense	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1676G>A	8.37:g.125565825C>T	ENSP00000429064:p.Arg559Gln		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432402	0.62844	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090	T;T;T;T;T;T;T	0.51071	0.84;0.72;0.9;0.81;0.72;0.9;0.78	6.04	5.17	0.71159	.	0.123853	0.52532	D	0.000070	T	0.63105	0.2483	L	0.56280	1.765	0.50813	D	0.999891	D;D;D;D;D;D;D	0.89917	0.983;1.0;1.0;1.0;1.0;0.999;1.0	P;D;D;D;D;D;D	0.87578	0.492;0.997;0.996;0.992;0.998;0.99;0.994	T	0.60100	-0.7329	10	0.28530	T	0.3	-12.4428	15.3659	0.74523	0.0:0.9335:0.0:0.0665	.	449;333;534;559;534;277;208	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2;Q6ZTG0	.;.;.;MTSS1_HUMAN;.;.;.	Q	534;559;277;333;563;277;449	ENSP00000367256:R534Q;ENSP00000429064:R559Q;ENSP00000346119:R277Q;ENSP00000378884:R333Q;ENSP00000322804:R563Q;ENSP00000393606:R277Q;ENSP00000428319:R449Q	ENSP00000322804:R563Q	R	-	2	0	MTSS1	125635006	1.000000	0.71417	0.948000	0.38648	0.033000	0.12548	7.625000	0.83145	1.573000	0.49748	-0.258000	0.10820	CGA		0.557	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		T	125565825	C	T	125565825	3	4	529	1	0	0	0	0	1	0	0	0	9964	884	31	1	595	1	MTSS1	8	125565825	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	23846690	125565825	20798197	35	28291											
FAM135B	51059	hgsc.bcm.edu	37	8	139165459	139165459	+	Splice_Site	SNP	C	C	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr8:139165459C>A	ENST00000395297.1	-	13	1429	c.1259G>T	c.(1258-1260)gGg>gTg	p.G420V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	420										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAAGTTATGCCCTACAAAAAA	0.289										HNSCC(54;0.14)																																						0													28	26	27					8																	139165459		1800	4065	5865	SO:0001630	splice_region_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1259-1G>T	8.37:g.139165459C>A			B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	8.107	0.778027	0.16120	.	.	ENSG00000147724	ENST00000395297	T	0.16073	2.37	5.42	4.54	0.55810	.	1.230090	0.05570	N	0.571034	T	0.28699	0.0711	L	0.42245	1.32	0.51767	D	0.999937	D	0.67145	0.996	P	0.59643	0.861	T	0.05818	-1.0862	10	0.17832	T	0.49	.	7.9747	0.30149	0.0:0.808:0.0:0.192	.	420	Q49AJ0	F135B_HUMAN	V	420	ENSP00000378710:G420V	ENSP00000276737:G420V	G	-	2	0	FAM135B	139234641	0.769000	0.28531	0.099000	0.21106	0.144000	0.21451	1.149000	0.31626	1.301000	0.44836	-0.140000	0.14226	GGG		0.289	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	Missense_Mutation	A	139165459	C	A	139165459	5	1	529	1	0	0	0	0	0	0	1	0	5451	637	22	4	2993	4	FAM135B	8	139165459	Splice_Site	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	13599634	139165459	7198563	36	28292											
LAMC3	10319	broad.mit.edu;hgsc.bcm.edu	37	9	133911651	133911651	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr9:133911651G>A	ENST00000361069.4	+	4	1041	c.908G>A	c.(907-909)cGc>cAc	p.R303H	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	303	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.R303H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GACTGTGAGCGCTGCCTGCCC	0.687																																																1	Substitution - Missense(1)	kidney(1)											28	31	30					9																	133911651		2200	4298	6498	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.908G>A	9.37:g.133911651G>A	ENSP00000354360:p.Arg303His		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445631	0.25987	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.64260	-0.09	5.06	1.72	0.24424	EGF-like, laminin (4);	0.474905	0.21551	N	0.072731	T	0.51381	0.1671	L	0.49699	1.58	0.19575	N	0.999969	B	0.33022	0.394	B	0.30572	0.117	T	0.44802	-0.9304	10	0.48119	T	0.1	.	9.3915	0.38376	0.3959:0.0:0.6041:0.0	.	303	Q9Y6N6	LAMC3_HUMAN	H	303	ENSP00000354360:R303H	ENSP00000325873:R303H	R	+	2	0	LAMC3	132901472	0.000000	0.05858	1.000000	0.80357	0.365000	0.29674	-0.002000	0.12924	0.538000	0.28769	-0.369000	0.07265	CGC		0.687	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		A	133911651	G	A	133911651	3	1	529	1	0	0	0	0	1	0	0	0	8618	1087	38	1	922	1	LAMC3	9	133911651	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08		133911651	7301780	37	28293											
NEURL	9148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105330649	105330649	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr10:105330649C>A	ENST00000369780.4	+	2	515	c.106C>A	c.(106-108)Ccc>Acc	p.P36T	NEURL_ENST00000369777.2_Missense_Mutation_p.P19T	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		36					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P36T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGGCCCCTTCCCCGTCACTTC	0.652																																																1	Substitution - Missense(1)	kidney(1)											109	128	122					10																	105330649		2203	4300	6503	SO:0001583	missense	9148																														ENST00000369780.4:c.106C>A	10.37:g.105330649C>A	ENSP00000358795:p.Pro36Thr		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637890	0.67130	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	L	0.34521	1.04	0.58432	D	0.999999	D	0.55605	0.972	P	0.48304	0.573	T	0.44329	-0.9335	9	0.40728	T	0.16	-11.7665	12.8724	0.57972	0.0:0.9183:0.0:0.0817	.	36	O76050	NEU1A_HUMAN	T	36;19;19	.	ENSP00000358792:P19T	P	+	1	0	NEURL	105320639	0.999000	0.42202	0.996000	0.52242	0.633000	0.38033	4.445000	0.60007	2.317000	0.78254	0.561000	0.74099	CCC		0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			A	105330649	C	A	105330649	3	1	529	1	0	0	0	0	1	0	0	0	10347	623	22	4	112	4	NEURL	10	105330649	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08		105330649	30204098	38	28294											
OSBPL5	114879	broad.mit.edu	37	11	3109495	3109495	+	Silent	SNP	G	G	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr11:3109495G>A	ENST00000263650.7	-	22	2739	c.2580C>T	c.(2578-2580)tcC>tcT	p.S860S	OSBPL5_ENST00000542243.1_Silent_p.S491S|OSBPL5_ENST00000478260.1_Silent_p.S314S|OSBPL5_ENST00000525498.1_Silent_p.S771S|OSBPL5_ENST00000389989.3_Silent_p.S792S|OSBPL5_ENST00000348039.5_Silent_p.S792S	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	860					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)	p.S860S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCAGGAACCAGGATCGGGGGC	0.642																																																1	Substitution - coding silent(1)	kidney(1)											54	56	55					11																	3109495		2202	4298	6500	SO:0001819	synonymous_variant	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2580C>T	11.37:g.3109495G>A			A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	CCDS31344.1																																																																																				0.642	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			A	3109495	G	A	3109495	2	1	529	1	0	0	0	0	0	0	0	1	11282	987	35	2		2	OSBPL5	11	3109495	Silent	SNP	G	TCGA-CJ-4907-01A-01D-1429-08		3109495	131897021	39	28295											
PPFIBP2	8495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	7663540	7663540	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr11:7663540C>T	ENST00000299492.4	+	17	1917	c.1529C>T	c.(1528-1530)aCt>aTt	p.T510I	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.T352I|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.T367I|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.T398I	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	510					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.T510I(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ATCCGAAGAACTCAGTCAGGA	0.542																																																1	Substitution - Missense(1)	kidney(1)											71	66	68					11																	7663540		2201	4296	6497	SO:0001583	missense	8495			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1529C>T	11.37:g.7663540C>T	ENSP00000299492:p.Thr510Ile		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910927	0.72983	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181;ENST00000530081	T;T;T;T	0.33654	1.83;1.41;1.83;1.4	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	M	0.63843	1.955	0.52099	D	0.999946	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;0.999;0.998	D;D;D;D;D;D	0.85130	0.965;0.986;0.989;0.997;0.997;0.953	T	0.56890	-0.7904	10	0.54805	T	0.06	-15.7796	17.7725	0.88497	0.0:1.0:0.0:0.0	.	398;398;433;352;367;510	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	I	510;352;352;433;398;367;171	ENSP00000299492:T510I;ENSP00000436498:T352I;ENSP00000435469:T398I;ENSP00000437321:T367I	ENSP00000299492:T510I	T	+	2	0	PPFIBP2	7620116	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.288000	0.59007	2.798000	0.96311	0.650000	0.86243	ACT		0.542	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		T	7663540	C	T	7663540	3	4	529	1	0	0	0	0	1	0	0	0	12316	565	20	2	1591	2	PPFIBP2	11	7663540	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	4554045	7663540	127342976	40	28296											
CTNND1	1500	broad.mit.edu;ucsc.edu	37	11	57573944	57573944	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr11:57573944T>C	ENST00000399050.4	+	11	2424	c.1888T>C	c.(1888-1890)Tcc>Ccc	p.S630P	CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000361796.4_Intron|CTNND1_ENST00000529526.1_Intron|CTNND1_ENST00000526357.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000525902.1_Missense_Mutation_p.S307P|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532649.1_Intron|CTNND1_ENST00000361391.6_Intron|CTNND1_ENST00000526938.1_Missense_Mutation_p.S630P|CTNND1_ENST00000532844.1_Missense_Mutation_p.S576P|CTNND1_ENST00000415361.2_Missense_Mutation_p.S529P|CTNND1_ENST00000360682.6_Missense_Mutation_p.S630P|CTNND1_ENST00000529873.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000530748.1_Missense_Mutation_p.S576P|CTNND1_ENST00000527467.1_Missense_Mutation_p.S307P|CTNND1_ENST00000528232.1_Missense_Mutation_p.S529P|CTNND1_ENST00000534579.1_Intron|CTNND1_ENST00000528621.1_Intron|CTNND1_ENST00000529919.1_Missense_Mutation_p.S630P|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000428599.2_Intron|CTNND1_ENST00000399039.4_Missense_Mutation_p.S630P|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000524630.1_Intron|CTNND1_ENST00000358694.6_Intron|CTNND1_ENST00000361332.4_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	630					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.S630P(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGAGTGGTTCTCCAGAGGTGA	0.413																																																1	Substitution - Missense(1)	kidney(1)											126	112	116					11																	57573944		1903	4135	6038	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1888T>C	11.37:g.57573944T>C	ENSP00000382004:p.Ser630Pro		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.797356	0.50208	.	.	ENSG00000198561	ENST00000529919;ENST00000399039;ENST00000360682;ENST00000399050;ENST00000530748;ENST00000527467;ENST00000528232;ENST00000525902;ENST00000532844;ENST00000415361;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T	0.72835	-0.32;-0.32;-0.68;-0.32;-0.32;-0.58;-0.24;-0.57;-0.33;-0.32;-0.69	4.99	3.86	0.44501	Armadillo-type fold (1);	0.511530	0.16996	N	0.191111	T	0.60287	0.2257	L	0.46157	1.445	0.80722	D	1	P;P;P	0.45176	0.852;0.769;0.769	B;B;B	0.42422	0.387;0.312;0.216	T	0.53961	-0.8364	10	0.26408	T	0.33	-9.5987	5.1781	0.15146	0.1583:0.0862:0.0:0.7556	.	630;630;630	O60716-3;O60716;C9JZR2	.;CTND1_HUMAN;.	P	630;630;630;630;576;307;529;307;576;529;630	ENSP00000434808:S630P;ENSP00000381996:S630P;ENSP00000353902:S630P;ENSP00000382004:S630P;ENSP00000436744:S576P;ENSP00000434900:S307P;ENSP00000435266:S529P;ENSP00000434672:S307P;ENSP00000433276:S576P;ENSP00000403518:S529P;ENSP00000432041:S630P	ENSP00000353902:S630P	S	+	1	0	CTNND1	57330520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.335000	0.52105	0.933000	0.37291	0.459000	0.35465	TCC		0.413	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		C	57573944	T	C	57573944	3	2	529	1	0	0	0	0	1	0	0	0	4021	1551	54	3	1922	3	CTNND1	11	57573944	Missense_Mutation	SNP	T	TCGA-CJ-4907-01A-01D-1429-08	49910404	57573944	77432572	41	28297											
JRKL	8690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	96124831	96124831	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr11:96124831G>T	ENST00000332349.4	+	2	1265	c.1018G>T	c.(1018-1020)Gca>Tca	p.A340S	CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000546177.1_Intron|JRKL_ENST00000458427.1_Missense_Mutation_p.A340S	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	340	DDE.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A340S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		AAATTATCGTGCAGGTCTTCT	0.403																																																1	Substitution - Missense(1)	kidney(1)											82	78	79					11																	96124831		2201	4298	6499	SO:0001583	missense	8690			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"erky (mouse) homolog-like", "jerky homolog-like (mouse)"			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1018G>T	11.37:g.96124831G>T	ENSP00000333350:p.Ala340Ser		A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	G	2.218	-0.379050	0.05000	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.28666	1.6;1.6	4.44	2.28	0.28536	.	0.000000	0.39687	N	0.001287	T	0.16385	0.0394	N	0.17594	0.5	0.21627	N	0.999612	B	0.25772	0.134	B	0.24848	0.056	T	0.14227	-1.0480	10	0.41790	T	0.15	-9.5199	6.6225	0.22810	0.0:0.2002:0.5935:0.2062	.	340	Q9Y4A0	JERKL_HUMAN	S	340	ENSP00000333350:A340S;ENSP00000389989:A340S	ENSP00000333350:A340S	A	+	1	0	JRKL	95764479	0.989000	0.36119	0.655000	0.29622	0.986000	0.74619	1.726000	0.38085	0.916000	0.36871	0.313000	0.20887	GCA		0.403	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772		T	96124831	G	T	96124831	3	4	529	1	0	0	0	0	1	0	0	0	7967	1319	46	4	1020	4	JRKL	11	96124831	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	38550887	96124831	38881685	42	28298											
CNTN5	53942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	99942549	99942549	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr11:99942549C>A	ENST00000524871.1	+	12	1702	c.1412C>A	c.(1411-1413)gCt>gAt	p.A471D	CNTN5_ENST00000418526.2_Missense_Mutation_p.A397D|CNTN5_ENST00000528682.1_Missense_Mutation_p.A471D|CNTN5_ENST00000279463.3_Missense_Mutation_p.A471D|CNTN5_ENST00000527185.1_Missense_Mutation_p.A471D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	471	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.A471D(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TACGCTAGTGCTGAGCTGAAG	0.338																																																2	Substitution - Missense(2)	kidney(2)											110	101	104					11																	99942549		1853	4126	5979	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1412C>A	11.37:g.99942549C>A	ENSP00000435637:p.Ala471Asp		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651494	0.88056	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097175	0.64402	D	0.000001	D	0.88633	0.6489	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;0.997;1.0	D	0.91317	0.5079	10	0.87932	D	0	.	18.3469	0.90325	0.0:1.0:0.0:0.0	.	471;397;471	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	471;471;471;397;471	ENSP00000433575:A471D;ENSP00000436185:A471D;ENSP00000435637:A471D;ENSP00000393229:A397D;ENSP00000279463:A471D	ENSP00000279463:A471D	A	+	2	0	CNTN5	99447759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.463000	0.80869	2.573000	0.86826	0.655000	0.94253	GCT		0.338	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		A	99942549	C	A	99942549	3	1	529	1	0	0	0	0	1	0	0	0	3646	797	28	4	1450	4	CNTN5	11	99942549	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	3817718	99942549	35063967	43	28299											
PAH	5053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	103240687	103240687	+	Nonsense_Mutation	SNP	C	C	A	rs398123294		TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr12:103240687C>A	ENST00000553106.1	-	9	1427	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	PAH_ENST00000307000.2_Nonsense_Mutation_p.E314*	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	319					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.E319*(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GCGAGCTTTTCAATGTATTCA	0.488																																																1	Substitution - Nonsense(1)	kidney(1)											137	124	128					12																	103240687		2203	4300	6503	SO:0001587	stop_gained	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.955G>T	12.37:g.103240687C>A	ENSP00000448059:p.Glu319*		Q16717|Q8TC14	Nonsense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	39	7.832619	0.98513	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-26.4316	19.1358	0.93428	0.0:1.0:0.0:0.0	.	.	.	.	X	319;314	.	ENSP00000303500:E314X	E	-	1	0	PAH	101764817	1.000000	0.71417	0.985000	0.45067	0.145000	0.21501	4.550000	0.60733	2.523000	0.85059	0.650000	0.86243	GAA		0.488	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			A	103240687	C	A	103240687	4	1	529	1	0	0	0	0	0	1	0	0	11396	835	29	4	423	4	PAH	12	103240687	Nonsense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08		103240687	30611208	44	28300											
OAS1	4938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113346530	113346530	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr12:113346530C>A	ENST00000202917.5	+	2	633	c.370C>A	c.(370-372)Cca>Aca	p.P124T	OAS1_ENST00000551241.1_Missense_Mutation_p.P124T|OAS1_ENST00000445409.2_Missense_Mutation_p.P124T|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000553185.1_Missense_Mutation_p.P124T|OAS1_ENST00000452357.2_Missense_Mutation_p.P124T	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	124					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.P124T(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGTCCAGGCTCCACGCTGGGG	0.577																																																3	Substitution - Missense(3)	kidney(3)											83	79	80					12																	113346530		2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.370C>A	12.37:g.113346530C>A	ENSP00000202917:p.Pro124Thr		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	C	3.348	-0.133143	0.06711	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000549820;ENST00000551241;ENST00000377508;ENST00000553185;ENST00000550689	T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15	3.58	-0.663	0.11410	.	4.273350	0.00589	N	0.000355	T	0.05502	0.0145	N	0.16368	0.405	0.09310	N	1	B;B;B;B;B;B	0.15719	0.014;0.001;0.001;0.002;0.008;0.001	B;B;B;B;B;B	0.16722	0.016;0.004;0.001;0.006;0.005;0.004	T	0.33085	-0.9882	10	0.23302	T	0.38	2.0888	2.9683	0.05915	0.1938:0.4466:0.0:0.3596	.	124;124;124;124;124;124	B4DWE7;E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;.;OAS1_HUMAN;.;.	T	124;124;124;124;124;124;124;120	ENSP00000202917:P124T;ENSP00000388001:P124T;ENSP00000415721:P124T;ENSP00000448790:P124T;ENSP00000448001:P124T;ENSP00000448348:P120T	ENSP00000202917:P124T	P	+	1	0	OAS1	111830913	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.441000	0.00470	-0.252000	0.09528	-0.463000	0.05309	CCA		0.577	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			A	113346530	C	A	113346530	3	1	529	1	0	0	0	0	1	0	0	0	10801	855	30	4	376	4	OAS1	12	113346530	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	10105843	113346530	20505365	45	28301											
MTUS2	23281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	29599346	29599346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr13:29599346G>T	ENST00000431530.3	+	1	599	c.541G>T	c.(541-543)Gaa>Taa	p.E181*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	171						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.E181*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGACAATGAGGAACTGAGGAG	0.532																																																1	Substitution - Nonsense(1)	kidney(1)											76	79	78					13																	29599346		2038	4199	6237	SO:0001587	stop_gained	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.541G>T	13.37:g.29599346G>T	ENSP00000392057:p.Glu181*		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Nonsense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	37	6.001039	0.97189	.	.	ENSG00000132938	ENST00000431530	.	.	.	5.18	5.18	0.71444	.	0.365223	0.23293	N	0.049767	.	.	.	.	.	.	0.25407	N	0.9884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0125	0.24871	0.0965:0.1778:0.7257:0.0	.	.	.	.	X	181	.	.	E	+	1	0	MTUS2	28497346	0.998000	0.40836	0.967000	0.41034	0.578000	0.36192	2.756000	0.47549	2.406000	0.81754	0.561000	0.74099	GAA		0.532	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		T	29599346	G	T	29599346	4	4	529	1	0	0	0	0	0	1	0	0	9968	1175	41	4	543	4	MTUS2	13	29599346	Nonsense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08		29599346	85570532	46	28302											
CCNA1	8900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	37014312	37014312	+	Silent	SNP	C	C	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr13:37014312C>T	ENST00000255465.4	+	6	1354	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	CCNA1_ENST00000440264.1_Silent_p.L320L|CCNA1_ENST00000449823.1_Silent_p.L320L|CCNA1_ENST00000418263.1_Silent_p.L363L			P78396	CCNA1_HUMAN	cyclin A1	364					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.L364L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GACTGAGAACCTGGCTAAGGT	0.458																																																1	Substitution - coding silent(1)	kidney(1)											113	111	112					13																	37014312		2203	4300	6503	SO:0001819	synonymous_variant	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1090C>T	13.37:g.37014312C>T			B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	CCDS9357.1																																																																																				0.458	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		T	37014312	C	T	37014312	2	4	529	1	0	0	0	0	0	0	0	1	2911	680	24	2		2	CCNA1	13	37014312	Silent	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	7414966	37014312	78155566	47	28303											
STRN3	29966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	31376115	31376115	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr14:31376115A>T	ENST00000357479.5	-	14	2052	c.1856T>A	c.(1855-1857)tTg>tAg	p.L619*	STRN3_ENST00000355683.5_Nonsense_Mutation_p.L535*	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	619					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L535*(1)|p.L619*(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AATACATGGCAATTTTTCTTG	0.323																																																2	Substitution - Nonsense(2)	kidney(2)											98	96	97					14																	31376115		2203	4300	6503	SO:0001587	stop_gained	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1856T>A	14.37:g.31376115A>T	ENSP00000350071:p.Leu619*		A2RTX7|A6NHZ7|Q9NRA5	Nonsense_Mutation	SNP	ENST00000357479.5	37	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	A	38	7.150070	0.98096	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	.	.	.	5.73	4.56	0.56223	.	0.490128	0.23012	N	0.052956	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-1.1221	5.7875	0.18340	0.6694:0.0:0.0695:0.2611	.	.	.	.	X	535;619	.	ENSP00000347909:L535X	L	-	2	0	STRN3	30445866	0.938000	0.31826	1.000000	0.80357	0.990000	0.78478	1.751000	0.38339	0.958000	0.37956	0.460000	0.39030	TTG		0.323	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		T	31376115	A	T	31376115	4	4	529	1	0	0	0	0	0	1	0	0	15335	131	5	5	557	5	STRN3	14	31376115	Nonsense_Mutation	SNP	A	TCGA-CJ-4907-01A-01D-1429-08		31376115	75973425	48	28304											
FLRT2	23768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	86089519	86089519	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr14:86089519T>C	ENST00000330753.4	+	2	2428	c.1661T>C	c.(1660-1662)gTg>gCg	p.V554A	FLRT2_ENST00000554746.1_Missense_Mutation_p.V554A	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	554					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.V554A(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTGATATTTGTGCTGGTGGTC	0.587																																																1	Substitution - Missense(1)	kidney(1)											75	79	78					14																	86089519		2203	4300	6503	SO:0001583	missense	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1661T>C	14.37:g.86089519T>C	ENSP00000332879:p.Val554Ala		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850758	0.71719	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.63744	-0.06;-0.06	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.62723	1.935	0.58432	D	0.999999	P	0.38767	0.646	B	0.33339	0.162	T	0.65981	-0.6036	10	0.87932	D	0	-19.394	16.8222	0.85835	0.0:0.0:0.0:1.0	.	554	O43155	FLRT2_HUMAN	A	554;554;207	ENSP00000332879:V554A;ENSP00000451050:V554A	ENSP00000332879:V554A	V	+	2	0	FLRT2	85159272	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	8.039000	0.88947	2.371000	0.80710	0.533000	0.62120	GTG		0.587	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			C	86089519	T	C	86089519	3	2	529	1	0	0	0	0	1	0	0	0	5941	1696	59	3	1663	3	FLRT2	14	86089519	Missense_Mutation	SNP	T	TCGA-CJ-4907-01A-01D-1429-08	54713404	86089519	21260021	49	28305											
RYR3	6263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	34137144	34137144	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr15:34137144G>A	ENST00000389232.4	+	93	13448	c.13378G>A	c.(13378-13380)Gcg>Acg	p.A4460T	RYR3_ENST00000415757.3_Missense_Mutation_p.A4455T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4460					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)	p.A4459T(1)		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)		AGAGGAAGAAGCGATGGTATT	0.473																																																1	Substitution - Missense(1)	kidney(1)											142	134	137					15																	34137144		1959	4153	6112	SO:0001583	missense	6263				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.13378G>A	15.37:g.34137144G>A	ENSP00000373884:p.Ala4460Thr		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136296	0.56936	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.93659	-3.26	5.24	5.24	0.73138	Ryanodine Receptor TM 4-6 (1);	0.232351	0.36167	N	0.002747	D	0.91164	0.7217	L	0.46157	1.445	0.46317	D	0.998986	B;P	0.35107	0.277;0.484	B;B	0.37989	0.061;0.262	D	0.88123	0.2833	10	0.13853	T	0.58	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	4455;4460	Q15413-2;Q15413	.;RYR3_HUMAN	T	4460;4456	ENSP00000373884:A4460T	ENSP00000354735:A4456T	A	+	1	0	RYR3	31924436	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.899000	0.56288	2.884000	0.98904	0.655000	0.94253	GCG		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	34137144	G	A	34137144	3	1	529	1	0	0	0	0	1	0	0	0	13776	971	34	2	13748	2	RYR3	15	34137144	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08		34137144	68394248	50	28306											
AQR	9716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	35149171	35149171	+	Missense_Mutation	SNP	C	C	T	rs573724519		TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr15:35149171C>T	ENST00000156471.5	-	35	4505	c.4280G>A	c.(4279-4281)cGt>cAt	p.R1427H		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1427					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1427H(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGTTTCTTGACGGCAGCTGGT	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		16839	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											187	196	193					15																	35149171		2047	4190	6237	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.4280G>A	15.37:g.35149171C>T	ENSP00000156471:p.Arg1427His		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823586	0.32237	.	.	ENSG00000021776	ENST00000543879	.	.	.	5.03	2.17	0.27698	.	0.833205	0.11008	N	0.609753	T	0.18299	0.0439	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17258	-1.0375	9	0.52906	T	0.07	-2.2197	6.3233	0.21229	0.0:0.7047:0.0:0.2953	.	1427	O60306	AQR_HUMAN	H	1427	.	ENSP00000445700:R1427H	R	-	2	0	AQR	32936463	0.368000	0.25031	0.081000	0.20488	0.018000	0.09664	0.355000	0.20163	0.845000	0.35118	-0.259000	0.10710	CGT		0.498	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		T	35149171	C	T	35149171	3	4	529	1	0	0	0	0	1	0	0	0	835	536	19	1	181	1	AQR	15	35149171	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	1012027	35149171	67382221	51	28307											
LOXL1	4016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	74239485	74239485	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr15:74239485A>G	ENST00000261921.7	+	4	1753	c.1427A>G	c.(1426-1428)cAc>cGc	p.H476R		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	476	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)	p.H476R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GCCGAGGGCCACAAGGCCAGT	0.587																																																1	Substitution - Missense(1)	kidney(1)											80	71	74					15																	74239485		2198	4297	6495	SO:0001583	missense	4016			L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1427A>G	15.37:g.74239485A>G	ENSP00000261921:p.His476Arg		Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296368	0.81025	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.39056	1.1	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.79258	2.445	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.69584	-0.5106	10	0.87932	D	0	.	13.2143	0.59849	1.0:0.0:0.0:0.0	.	476	Q08397	LOXL1_HUMAN	R	476;338	ENSP00000261921:H476R	ENSP00000261921:H476R	H	+	2	0	LOXL1	72026538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.057000	0.93889	1.804000	0.52760	0.379000	0.24179	CAC		0.587	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		G	74239485	A	G	74239485	3	3	529	1	0	0	0	0	1	0	0	0	8901	159	6	3	1441	3	LOXL1	15	74239485	Missense_Mutation	SNP	A	TCGA-CJ-4907-01A-01D-1429-08	39090314	74239485	28291907	52	28308											
A2BP1	54715	broad.mit.edu	37	16	7703894	7703894	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr16:7703894G>A	ENST00000550418.1	+	12	1823	c.835G>A	c.(835-837)Gtg>Atg	p.V279M	RBFOX1_ENST00000552089.1_Missense_Mutation_p.V296M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V279M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V236M|RBFOX1_ENST00000340209.4_Missense_Mutation_p.V284M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V252M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V299M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V299M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V322M|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V299M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V322M	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	279					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.V299M(2)|p.V279M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGTCGCACCGTGTACAACAC	0.741																																					Ovarian(157;934 2567 15163 39509)											3	Substitution - Missense(3)	kidney(3)											11	14	13					16																	7703894		1886	3889	5775	SO:0001583	missense	0			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.835G>A	16.37:g.7703894G>A	ENSP00000450031:p.Val279Met		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	g	27.2	4.811473	0.90707	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T	0.37411	1.2;1.56;1.53;1.49;1.2;1.36;1.52;1.57;1.2	4.25	4.25	0.50352	.	0.206066	0.40385	N	0.001117	T	0.57417	0.2052	M	0.64997	1.995	0.50813	D	0.999893	D;D;D;P;P;D;D;D;D	0.89917	1.0;1.0;1.0;0.746;0.884;1.0;1.0;1.0;1.0	D;D;D;B;P;D;D;D;D	0.87578	0.968;0.998;0.997;0.14;0.618;0.996;0.992;0.994;0.993	T	0.58934	-0.7548	9	.	.	.	-7.8987	17.0189	0.86428	0.0:0.0:1.0:0.0	.	272;236;322;299;299;299;252;279;322	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	M	279;252;322;322;236;296;279;299;299;299;272;284	ENSP00000450031:V279M;ENSP00000447753:V252M;ENSP00000446842:V322M;ENSP00000391269:V322M;ENSP00000447717:V279M;ENSP00000402745:V299M;ENSP00000309117:V299M;ENSP00000347855:V299M;ENSP00000344196:V284M	.	V	+	1	0	RBFOX1	7643895	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.439000	0.97543	2.076000	0.62316	0.401000	0.26515	GTG		0.741	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		A	7703894	G	A	7703894	3	1	529	1	0	0	0	0	1	0	0	0	3	1145	40	1	960	1	A2BP1	16	7703894	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08		7703894	82650859	53	28309											
ZC3H18	124245	broad.mit.edu;hgsc.bcm.edu	37	16	88697620	88697620	+	Silent	SNP	G	G	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr16:88697620G>A	ENST00000301011.5	+	18	2975	c.2775G>A	c.(2773-2775)ctG>ctA	p.L925L	ZC3H18_ENST00000452588.2_Silent_p.L949L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	925						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L925L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGCACGCTGTCTCGGCGGG	0.652																																					Ovarian(121;375 2276 20373 38669)											1	Substitution - coding silent(1)	kidney(1)											34	34	34					16																	88697620		2197	4300	6497	SO:0001819	synonymous_variant	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2775G>A	16.37:g.88697620G>A			Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	6.268	0.417611	0.11870	.	.	ENSG00000158545	ENST00000289509	.	.	.	5.61	1.44	0.22558	.	.	.	.	.	T	0.62804	0.2458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64118	-0.6482	5	0.87932	D	0	-20.9204	7.8469	0.29431	0.178:0.219:0.6031:0.0	.	.	.	.	Y	751	.	ENSP00000289509:C751Y	C	+	2	0	ZC3H18	87225121	1.000000	0.71417	0.872000	0.34217	0.534000	0.34807	1.920000	0.40025	0.723000	0.32274	0.561000	0.74099	TGT		0.652	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		A	88697620	G	A	88697620	2	1	529	1	0	0	0	0	0	0	0	1	17573	1364	48	2		2	ZC3H18	16	88697620	Silent	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	80993726	88697620	1657133	54	28310											
MYST2	11143	broad.mit.edu;hgsc.bcm.edu	37	17	47895315	47895315	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr17:47895315A>G	ENST00000259021.4	+	9	1377	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C	KAT7_ENST00000513980.1_Intron|KAT7_ENST00000454930.2_Missense_Mutation_p.Y227C|KAT7_ENST00000503935.2_Missense_Mutation_p.Y210C|KAT7_ENST00000424009.2_Missense_Mutation_p.Y336C|KAT7_ENST00000510819.1_Missense_Mutation_p.Y197C|KAT7_ENST00000509773.1_Missense_Mutation_p.Y256C|KAT7_ENST00000435742.2_Missense_Mutation_p.Y180C	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	366	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y366C(1)									GGACGTCTCTATATGTGTGAA	0.438																																																1	Substitution - Missense(1)	kidney(1)											81	79	80					17																	47895315		2203	4300	6503	SO:0001583	missense	0			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1097A>G	17.37:g.47895315A>G	ENSP00000259021:p.Tyr366Cys		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349023	0.82132	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	H	0.94698	3.57	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.75484	0.977;0.983;0.942;0.962;0.985;0.986	D	0.90092	0.4178	9	0.87932	D	0	-12.4492	14.338	0.66606	1.0:0.0:0.0:0.0	.	329;197;256;227;366;336	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	C	366;227;256;197;336;210;180	.	ENSP00000259021:Y366C	Y	+	2	0	KAT7	45250314	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.417000	0.80156	1.874000	0.54306	0.460000	0.39030	TAT		0.438	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		G	47895315	A	G	47895315	3	3	529	1	0	0	0	0	1	0	0	0	10105	449	16	3	1131	3	MYST2	17	47895315	Missense_Mutation	SNP	A	TCGA-CJ-4907-01A-01D-1429-08		47895315	33299895	55	28311											
PIK3C3	5289	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	39567803	39567803	+	Missense_Mutation	SNP	A	A	T	rs368043076		TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr18:39567803A>T	ENST00000262039.4	+	5	645	c.559A>T	c.(559-561)Atg>Ttg	p.M187L	PIK3C3_ENST00000398870.3_Missense_Mutation_p.M124L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	187					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.M187L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ACAAGGACACATGGTGAAAGT	0.318										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)											1	Substitution - Missense(1)	kidney(1)											105	106	106					18																	39567803		2203	4300	6503	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.559A>T	18.37:g.39567803A>T	ENSP00000262039:p.Met187Leu		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.662546	0.47572	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.76186	-1.0;-1.0	5.66	5.66	0.87406	Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	N	0.24115	0.695	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.14023	0.01;0.01	T	0.57021	-0.7882	9	.	.	.	.	16.1819	0.81915	1.0:0.0:0.0:0.0	.	124;187	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	L	187;124	ENSP00000262039:M187L;ENSP00000381845:M124L	.	M	+	1	0	PIK3C3	37821801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.436000	0.80404	2.279000	0.76181	0.533000	0.62120	ATG		0.318	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		T	39567803	A	T	39567803	3	4	529	1	0	0	0	0	1	0	0	0	11914	217	8	5	577	5	PIK3C3	18	39567803	Missense_Mutation	SNP	A	TCGA-CJ-4907-01A-01D-1429-08		39567803	38509445	56	28312											
S1PR4	8698	broad.mit.edu	37	19	3179921	3179921	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr19:3179921C>A	ENST00000246115.3	+	1	1186	c.1131C>A	c.(1129-1131)agC>agA	p.S377R		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	377					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.S377R(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCCTGTCCAGCATCTCCAGCG	0.647																																					GBM(82;318 1638 33279 49708)											2	Substitution - Missense(2)	kidney(2)											51	60	57					19																	3179921		2146	4184	6330	SO:0001583	missense	8698			AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.1131C>A	19.37:g.3179921C>A	ENSP00000246115:p.Ser377Arg		D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158885	0.57368	.	.	ENSG00000125910	ENST00000246115	D	0.82893	-1.66	3.85	0.267	0.15622	.	0.414587	0.23309	N	0.049598	T	0.79930	0.4531	L	0.29908	0.895	0.35277	D	0.781006	D	0.59357	0.985	P	0.58077	0.832	T	0.80254	-0.1459	10	0.87932	D	0	.	7.0012	0.24811	0.0:0.5706:0.0:0.4294	.	377	O95977	S1PR4_HUMAN	R	377	ENSP00000246115:S377R	ENSP00000246115:S377R	S	+	3	2	S1PR4	3130921	0.254000	0.23992	0.965000	0.40720	0.963000	0.63663	0.504000	0.22626	-0.028000	0.13850	-0.339000	0.08088	AGC		0.647	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		A	3179921	C	A	3179921	3	1	529	1	0	0	0	0	1	0	0	0	13802	709	25	4	1133	4	S1PR4	19	3179921	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08		3179921	55949062	57	28313											
PIP5K1C	23396	broad.mit.edu;hgsc.bcm.edu	37	19	3651895	3651895	+	Silent	SNP	C	C	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr19:3651895C>A	ENST00000335312.3	-	8	1144	c.1056G>T	c.(1054-1056)gcG>gcT	p.A352A	PIP5K1C_ENST00000589578.1_Silent_p.A352A|PIP5K1C_ENST00000537021.1_Silent_p.A352A|PIP5K1C_ENST00000539785.1_Silent_p.A352A|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	352	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.A352A(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGGAGTAGAGCGCCTTCTGGC	0.706																																					Esophageal Squamous(135;99 1744 12852 27186 39851)											1	Substitution - coding silent(1)	kidney(1)											38	38	38					19																	3651895		2202	4296	6498	SO:0001819	synonymous_variant	23396			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1056G>T	19.37:g.3651895C>A			B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	ENST00000335312.3	37	CCDS32872.1																																																																																				0.706	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		A	3651895	C	A	3651895	2	1	529	1	0	0	0	0	0	0	0	1	11943	755	27	4		4	PIP5K1C	19	3651895	Silent	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	471974	3651895	55477088	58	28314											
PTPRS	5802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	5219380	5219380	+	Silent	SNP	C	C	G	rs371702194		TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr19:5219380C>G	ENST00000587303.1	-	22	3963	c.3864G>C	c.(3862-3864)ggG>ggC	p.G1288G	PTPRS_ENST00000357368.4_Silent_p.G1288G|PTPRS_ENST00000353284.2_Silent_p.G857G|PTPRS_ENST00000372412.4_Silent_p.G1289G|PTPRS_ENST00000262963.6_Silent_p.G1284G|PTPRS_ENST00000348075.2_Silent_p.G1266G|PTPRS_ENST00000592099.1_Silent_p.G857G|PTPRS_ENST00000588012.1_Silent_p.G1266G|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1288					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1288G(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CCAGCACAGGCCCGATCACCC	0.572																																																1	Substitution - coding silent(1)	kidney(1)											70	70	70					19																	5219380		2203	4300	6503	SO:0001819	synonymous_variant	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3864G>C	19.37:g.5219380C>G			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	CCDS45930.1																																																																																				0.572	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			G	5219380	C	G	5219380	2	3	529	1	0	0	0	0	0	0	0	1	12817	726	26	4		4	PTPRS	19	5219380	Silent	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	1567485	5219380	53909603	59	28315											
KIAA0892	23383	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19459978	19459978	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr19:19459978G>A	ENST00000392313.6	+	15	1552	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q	MAU2_ENST00000262815.8_Missense_Mutation_p.R458Q	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	458					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.R458Q(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CACTGCCTCCGAGCAGCCGCC	0.582																																																1	Substitution - Missense(1)	kidney(1)											79	66	71					19																	19459978		2203	4300	6503	SO:0001583	missense	23383			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1373G>A	19.37:g.19459978G>A	ENSP00000376127:p.Arg458Gln		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606449	0.46527	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.62941	-0.01;-0.01	4.86	3.83	0.44106	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.52364	1.645	0.58432	D	0.999995	B;B;P	0.46656	0.44;0.35;0.882	B;B;B	0.35353	0.025;0.009;0.201	T	0.45440	-0.9261	10	0.16420	T	0.52	.	12.087	0.53702	0.0851:0.0:0.9149:0.0	.	34;63;458	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	Q	458	ENSP00000376127:R458Q;ENSP00000262815:R458Q	ENSP00000262815:R458Q	R	+	2	0	MAU2	19320978	1.000000	0.71417	0.155000	0.22561	0.348000	0.29142	9.006000	0.93592	1.188000	0.43014	0.655000	0.94253	CGA		0.582	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		A	19459978	G	A	19459978	3	1	529	1	0	0	0	0	1	0	0	0	8198	1058	37	1	1431	1	KIAA0892	19	19459978	Missense_Mutation	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	14240598	19459978	39669005	60	28316											
RPL18	6141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49119434	49119434	+	Missense_Mutation	SNP	C	C	T	rs559300689		TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr19:49119434C>T	ENST00000549920.1	-	5	715	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	RPL18_ENST00000549273.1_Missense_Mutation_p.R108Q|RPL18_ENST00000550645.1_Intron|FAM83E_ENST00000595110.1_5'Flank|RPL18_ENST00000552588.1_Missense_Mutation_p.R79Q|FAM83E_ENST00000263266.3_5'Flank	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	108					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R108Q(1)		cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GCTGCGGGCCCGGCTGGTCAC	0.672																																																1	Substitution - Missense(1)	kidney(1)											50	51	50					19																	49119434		2203	4300	6503	SO:0001583	missense	6141			L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"L ribosomal proteins"	10310	protein-coding gene	gene with protein product	"60S ribosomal protein L18"	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.323G>A	19.37:g.49119434C>T	ENSP00000447001:p.Arg108Gln		F8VWC5|Q8WTZ6	Missense_Mutation	SNP	ENST00000549920.1	37	CCDS12726.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497973	0.64186	.	.	ENSG00000063177	ENST00000549920;ENST00000552588;ENST00000549273;ENST00000550973	.	.	.	4.99	3.93	0.45458	Ribosomal protein L18e/L15P (2);	0.253774	0.39146	N	0.001454	T	0.59335	0.2186	M	0.73319	2.225	0.41091	D	0.985594	B	0.12013	0.005	B	0.16722	0.016	T	0.58679	-0.7594	9	0.33141	T	0.24	-8.5114	12.0361	0.53425	0.0:0.9085:0.0:0.0915	.	108	Q07020	RL18_HUMAN	Q	108;79;108;56	.	ENSP00000449610:R108Q	R	-	2	0	RPL18	53811246	1.000000	0.71417	0.995000	0.50966	0.854000	0.48673	5.188000	0.65093	2.478000	0.83669	0.467000	0.42956	CGG		0.672	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405732.2	NM_000979		T	49119434	C	T	49119434	3	4	529	1	0	0	0	0	1	0	0	0	13570	652	23	1	255	1	RPL18	19	49119434	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08	29659456	49119434	10009549	61	28317											
PREX1	57580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47258752	47258752	+	Silent	SNP	C	C	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr20:47258752C>A	ENST00000371941.3	-	29	3751	c.3729G>T	c.(3727-3729)cgG>cgT	p.R1243R	PREX1_ENST00000496915.1_5'UTR|PREX1_ENST00000396220.1_Silent_p.R1243R	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1243					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1243R(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTTCGAAAGCCCGGCTCATGA	0.577																																																2	Substitution - coding silent(2)	kidney(2)											102	94	97					20																	47258752		2203	4300	6503	SO:0001819	synonymous_variant	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3729G>T	20.37:g.47258752C>A			E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																				0.577	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		A	47258752	C	A	47258752	2	1	529	1	0	0	0	0	0	0	0	1	12481	610	22	4		4	PREX1	20	47258752	Silent	SNP	C	TCGA-CJ-4907-01A-01D-1429-08		47258752	15766768	62	28318											
CTCFL	140690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	56089655	56089655	+	Silent	SNP	G	G	A			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr20:56089655G>A	ENST00000608263.1	-	6	1984	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	CTCFL_ENST00000609232.1_Silent_p.S441S|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000502686.2_Silent_p.S179S|CTCFL_ENST00000608425.1_Silent_p.S441S|CTCFL_ENST00000608440.1_Silent_p.S441S|CTCFL_ENST00000429804.3_Intron|CTCFL_ENST00000422869.2_Silent_p.S441S|CTCFL_ENST00000371196.2_Silent_p.S441S|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Silent_p.S441S|CTCFL_ENST00000608903.1_Silent_p.S179S|CTCFL_ENST00000423479.3_Silent_p.S441S|CTCFL_ENST00000539382.1_Silent_p.S236S|CTCFL_ENST00000433949.3_Silent_p.S236S	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	441					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.S441S(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CACGTAGGTCGCTTTTCCGTG	0.483											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											221	203	209					20																	56089655		2203	4300	6503	SO:0001819	synonymous_variant	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1323C>T	20.37:g.56089655G>A		1012	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	CCDS13459.1																																																																																				0.483	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		A	56089655	G	A	56089655	2	1	529	1	0	0	0	0	0	0	0	1	4003	1078	38	1		1	CTCFL	20	56089655	Silent	SNP	G	TCGA-CJ-4907-01A-01D-1429-08	8830903	56089655	6935865	63	28319											
APOBEC3D	140564	hgsc.bcm.edu	37	22	39421110	39421112	+	In_Frame_Del	DEL	CTT	CTT	-	rs201748259|rs576939969	byFrequency	TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr22:39421110_39421112delCTT	ENST00000216099.8	+	3	653_655	c.246_248delCTT	c.(244-249)tgcttc>tgc	p.F83del	APOBEC3D_ENST00000381568.4_In_Frame_Del_p.F83del|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	83	CMP/dCMP deaminase zinc-binding 1.				defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CAGAAATGTGCTTCTTATCTTGG	0.591														8	0.00159744	0.0	0.0086	5008	,	,		13843	0.0		0.001	False		,,,				2504	0.001															0										3,4261		1,1,2130						-3.3	0			73	28,8226		0,28,4099	no	coding	APOBEC3D	NM_152426.3		1,29,6229	A1A1,A1R,RR		0.3392,0.0704,0.2476				31,12487				SO:0001651	inframe_deletion	140564			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.246_248delCTT	22.37:g.39421113_39421115delCTT	ENSP00000216099:p.Phe83del		Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	In_Frame_Del	DEL	ENST00000216099.8	37	CCDS46709.1																																																																																				0.591	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		-	39421112	CTT	-	39421110	7	5	529	1	0	1	0	1	0	0	0	0	792	805	28	0	256	0	APOBEC3D	22	39421110	In_Frame_Del	DEL	CTT	TCGA-CJ-4907-01A-01D-1429-08		39421110	11883456	64	28320											
SULT4A1	25830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	44237743	44237743	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr22:44237743A>C	ENST00000330884.4	-	2	359	c.239T>G	c.(238-240)aTg>aGg	p.M80R	SULT4A1_ENST00000249130.5_Missense_Mutation_p.M80R|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	80					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.M80R(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GTCGATGTTCATCAAGCCGAT	0.637																																																1	Substitution - Missense(1)	kidney(1)											60	58	59					22																	44237743		2203	4300	6503	SO:0001583	missense	25830			AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"Sulfotransferases, cytosolic"	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.239T>G	22.37:g.44237743A>C	ENSP00000332565:p.Met80Arg		B2R7N3|O43728	Missense_Mutation	SNP	ENST00000330884.4	37	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457391	0.26161	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	D;D	0.82255	-1.59;-1.59	4.4	4.4	0.53042	Sulfotransferase domain (1);	0.039181	0.85682	D	0.000000	T	0.69815	0.3153	N	0.12637	0.245	0.80722	D	1	B	0.20368	0.044	B	0.26094	0.066	T	0.64922	-0.6293	10	0.29301	T	0.29	.	12.7883	0.57518	1.0:0.0:0.0:0.0	.	80	Q9BR01	ST4A1_HUMAN	R	80	ENSP00000332565:M80R;ENSP00000249130:M80R	ENSP00000249130:M80R	M	-	2	0	SULT4A1	42569076	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.586000	0.90806	1.626000	0.50381	0.528000	0.53228	ATG		0.637	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		C	44237743	A	C	44237743	3	2	529	1	0	0	0	0	1	0	0	0	15388	217	8	5	639	5	SULT4A1	22	44237743	Missense_Mutation	SNP	A	TCGA-CJ-4907-01A-01D-1429-08	4816633	44237743	7066823	65	28321											
ACR	49	broad.mit.edu;hgsc.bcm.edu	37	22	51178394	51178394	+	Missense_Mutation	SNP	T	T	C	rs368795913		TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chr22:51178394T>C	ENST00000216139.5	+	3	594	c.554T>C	c.(553-555)aTa>aCa	p.I185T	AC000036.4_ENST00000449652.1_RNA|AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000529621.1_Missense_Mutation_p.I185T	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	185	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.I185T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TGGGGATATATAGAAGAGAAA	0.617																																																1	Substitution - Missense(1)	kidney(1)						T	THR/ILE	1,4389		0,1,2194	30	37	35		554	3.4	0	22		35	0,8590		0,0,4295	no	missense	ACR	NM_001097.2	89	0,1,6489	CC,CT,TT		0.0,0.0228,0.0077	benign	185/422	51178394	1,12979	2195	4295	6490	SO:0001583	missense	49			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"preproacrosin", "acrosin light and heavy chain prepropeptide"	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.554T>C	22.37:g.51178394T>C	ENSP00000216139:p.Ile185Thr		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	t	7.410	0.634585	0.14322	2.28E-4	0.0	ENSG00000100312	ENST00000216139;ENST00000529621	T;D	0.91295	0.53;-2.82	4.52	3.41	0.39046	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.836761	0.09760	N	0.759401	T	0.71099	0.3300	N	0.00815	-1.16	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.18263	0.021;0.021	T	0.60786	-0.7194	10	0.09843	T	0.71	-3.0196	8.7959	0.34878	0.1689:0.0:0.0:0.8311	.	185;185	E9PLV5;P10323	.;ACRO_HUMAN	T	185	ENSP00000216139:I185T;ENSP00000435120:I185T	ENSP00000216139:I185T	I	+	2	0	ACR	49525260	0.000000	0.05858	0.002000	0.10522	0.856000	0.48823	-0.166000	0.09954	2.043000	0.60533	0.374000	0.22700	ATA		0.617	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		C	51178394	T	C	51178394	3	2	529	1	0	0	0	0	1	0	0	0	169	1406	49	3	564	3	ACR	22	51178394	Missense_Mutation	SNP	T	TCGA-CJ-4907-01A-01D-1429-08	6940651	51178394	126172	66	28322											
GNL3L	54552	broad.mit.edu;hgsc.bcm.edu	37	X	54585053	54585053	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chrX:54585053C>T	ENST00000336470.4	+	15	1770	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	GNL3L_ENST00000360845.2_Missense_Mutation_p.A544V	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	544					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.A544V(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CTGGCATCTGCCCTGAAAAAT	0.542																																																1	Substitution - Missense(1)	kidney(1)											37	30	32					X																	54585053		2203	4300	6503	SO:0001583	missense	54552			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1631C>T	X.37:g.54585053C>T	ENSP00000338573:p.Ala544Val			Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442446	0.83993	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.24350	1.86;1.86	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.07635	-1.0762	10	0.42905	T	0.14	-10.6679	12.6205	0.56600	0.0:1.0:0.0:0.0	.	544	Q9NVN8	GNL3L_HUMAN	V	544	ENSP00000338573:A544V;ENSP00000354091:A544V	ENSP00000338573:A544V	A	+	2	0	GNL3L	54601778	0.999000	0.42202	0.955000	0.39395	0.817000	0.46193	5.272000	0.65559	2.275000	0.75901	0.513000	0.50165	GCC		0.542	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		T	54585053	C	T	54585053	3	4	529	1	0	0	0	0	1	0	0	0	6540	739	26	2	1685	2	GNL3L	23	54585053	Missense_Mutation	SNP	C	TCGA-CJ-4907-01A-01D-1429-08		54585053	100685507	67	28323											
NAP1L3	4675	hgsc.bcm.edu	37	X	92928035	92928036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-4907-01A-01D-1429-08	TCGA-CJ-4907-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c69fcb9-4b94-478a-bcb3-6ebd162d9482	37409a95-7e2f-42ee-ad41-b3f5b32c7236	g.chrX:92928035_92928036insC	ENST00000373079.3	-	1	531_532	c.268_269insG	c.(268-270)gccfs	p.A90fs	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Frame_Shift_Ins_p.A83fs|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	90					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCCCAACGGGGCCCGCCGCGCC	0.564																																																0																																										SO:0001589	frameshift_variant	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.269dupG	X.37:g.92928038_92928038dupC	ENSP00000362171:p.Ala90fs		B2RCM0|O60788	Frame_Shift_Ins	INS	ENST00000373079.3	37	CCDS14465.1																																																																																				0.564	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		C	92928036	-	C	92928035	7	5	529	1	0	1	1	0	0	0	0	0	10160	1203	42	0	1255	0	NAP1L3	23	92928035	Frame_Shift_Ins	INS	-	TCGA-CJ-4907-01A-01D-1429-08	38342982	92928035	62342525	68	28324											
ZMYM6	9204	broad.mit.edu;hgsc.bcm.edu	37	1	35457966	35457966	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr1:35457966A>T	ENST00000357182.4	-	15	2242	c.2015T>A	c.(2014-2016)aTg>aAg	p.M672K	ZMYM6_ENST00000373340.2_Missense_Mutation_p.M672K|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.M672K	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	672					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.M672K(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGGAAATTTCATAGCATCTTC	0.373																																																1	Substitution - Missense(1)	kidney(1)											145	137	140					1																	35457966		2203	4300	6503	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2015T>A	1.37:g.35457966A>T	ENSP00000349708:p.Met672Lys		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	A	7.258	0.604565	0.14002	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.22134	1.97;3.12	4.47	-2.47	0.06442	.	1.497270	0.03469	N	0.213422	T	0.13927	0.0337	L	0.40543	1.245	0.09310	N	0.999998	B;B;B	0.15141	0.012;0.001;0.002	B;B;B	0.14578	0.011;0.003;0.005	T	0.22312	-1.0220	10	0.06236	T	0.91	3.7425	5.0045	0.14280	0.5526:0.0:0.3153:0.1321	.	575;672;672	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	K	672	ENSP00000362437:M672K;ENSP00000349708:M672K	ENSP00000349708:M672K	M	-	2	0	ZMYM6	35230553	0.366000	0.25014	0.005000	0.12908	0.190000	0.23558	0.156000	0.16382	-0.550000	0.06183	0.477000	0.44152	ATG		0.373	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		T	35457966	A	T	35457966	3	4	530	1	0	0	0	0	1	0	0	0	17709	217	8	5	1970	5	ZMYM6	1	35457966	Missense_Mutation	SNP	A	TCGA-CJ-4908-01A-01D-1429-08		35457966	213792655	1	28325											
C1orf103	55791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111494480	111494480	+	Silent	SNP	A	A	T			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr1:111494480A>T	ENST00000369763.4	-	2	1416	c.1026T>A	c.(1024-1026)ccT>ccA	p.P342P	LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.P342P(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GCGTCCCACTAGGATCGATGG	0.348																																																1	Substitution - coding silent(1)	kidney(1)											76	79	78					1																	111494480		2203	4300	6503	SO:0001819	synonymous_variant	0			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1026T>A	1.37:g.111494480A>T			Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	CCDS30800.1																																																																																				0.348	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		T	111494480	A	T	111494480	2	4	530	1	0	0	0	0	0	0	0	1	1979	407	15	5		5	C1orf103	1	111494480	Silent	SNP	A	TCGA-CJ-4908-01A-01D-1429-08	76036514	111494480	137756141	2	28326											
IGFN1	91156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201190737	201190737	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr1:201190737C>A	ENST00000335211.4	+	19	10194	c.10064C>A	c.(10063-10065)aCc>aAc	p.T3355N	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_Missense_Mutation_p.T515N	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	898						nucleus (GO:0005634)|Z disc (GO:0030018)		p.T3355N(1)|p.T515N(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CATGTGGGCACCGTGCCAGTC	0.637																																																2	Substitution - Missense(2)	kidney(2)											52	44	46					1																	201190737		2203	4300	6503	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10064C>A	1.37:g.201190737C>A	ENSP00000334714:p.Thr3355Asn		F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.33|17.33	3.361872|3.361872	0.61403|0.61403	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.57273	.|0.41;0.41	4.64|4.64	2.74|2.74	0.32292|0.32292	.|.	.|0.407546	.|0.21425	.|N	.|0.074755	T|T	0.57036|0.57036	0.2026|0.2026	L|L	0.49513|0.49513	1.565|1.565	0.09310|0.09310	N|N	1|1	.|D	.|0.60575	.|0.988	.|P	.|0.57620	.|0.824	T|T	0.46162|0.46162	-0.9211|-0.9211	5|10	.|0.56958	.|D	.|0.05	.|.	8.2497|8.2497	0.31710|0.31710	0.0:0.8114:0.0:0.1886|0.0:0.8114:0.0:0.1886	.|.	.|3355	.|F8WAI1	.|.	Q|N	772|3355;515	.|ENSP00000334714:T3355N;ENSP00000295591:T515N	.|ENSP00000295591:T515N	H|T	+|+	3|2	2|0	IGFN1|IGFN1	199457360|199457360	0.090000|0.090000	0.21635|0.21635	0.248000|0.248000	0.24265|0.24265	0.075000|0.075000	0.17131|0.17131	2.263000|2.263000	0.43293|0.43293	0.936000|0.936000	0.37367|0.37367	0.305000|0.305000	0.20034|0.20034	CAC|ACC		0.637	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		A	201190737	C	A	201190737	3	1	530	1	0	0	0	0	1	0	0	0	7592	507	18	4	10134	4	IGFN1	1	201190737	Missense_Mutation	SNP	C	TCGA-CJ-4908-01A-01D-1429-08	89696257	201190737	48059884	3	28327											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188297	10188297	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr3:10188297delT	ENST00000256474.2	+	2	1280	c.440delT	c.(439-441)attfs	p.I147fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	147	Involved in binding to CCT complex.		I -> T (in pheochromocytoma). {ECO:0000269|PubMed:9663592}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.A149fs*25(4)|p.F148fs*11(4)|p.I147fs*25(1)|p.I147fs*11(1)|p.I147fs*27(1)|p.I147fs*13(1)|p.I147_F148del(1)|p.I147fs*10(1)|p.F148fs*25(1)|p.P146fs*23(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGACAGCCTATTTTTGCCAAT	0.418		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	17	Deletion - Frameshift(10)|Insertion - Frameshift(6)|Deletion - In frame(1)	kidney(17)	GRCh37	CM982009	VHL	M							204	190	195					3																	10188297		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.440delT	3.37:g.10188297delT	ENSP00000256474:p.Ile147fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.418	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188297	T	-	10188297	7	5	530	1	0	1	0	1	0	0	0	0	17167	1493	52	0	446	0	VHL	3	10188297	Frame_Shift_Del	DEL	T	TCGA-CJ-4908-01A-01D-1429-08		10188297	187834133	4	28328											
TSEN2	80746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	12544895	12544895	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr3:12544895A>C	ENST00000284995.6	+	5	830	c.443A>C	c.(442-444)cAa>cCa	p.Q148P	TSEN2_ENST00000415684.1_Missense_Mutation_p.Q148P|TSEN2_ENST00000402228.3_Missense_Mutation_p.Q148P|TSEN2_ENST00000454502.2_Missense_Mutation_p.Q148P|TSEN2_ENST00000314571.7_Missense_Mutation_p.Q148P|RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000383797.5_Missense_Mutation_p.Q148P|TSEN2_ENST00000444864.1_Missense_Mutation_p.Q148P	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	148					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)	p.Q148P(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GAAGAGGCTCAAGTGCATGAC	0.507																																																1	Substitution - Missense(1)	kidney(1)											107	103	104					3																	12544895		2203	4300	6503	SO:0001583	missense	80746			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.443A>C	3.37:g.12544895A>C	ENSP00000284995:p.Gln148Pro		B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	A	6.353	0.433238	0.12045	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.55930	0.5;0.5;0.49;0.51;0.51;0.51;0.49;0.5	4.5	-9.01	0.00744	.	1.198800	0.05937	N	0.636264	T	0.29389	0.0732	N	0.11927	0.2	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.24870	-1.0148	10	0.22706	T	0.39	0.0802	13.1562	0.59518	0.1865:0.7311:0.0823:0.0	.	148;148;148;148	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	P	148;148;148;148;148;148;148;121;148	ENSP00000406238:Q148P;ENSP00000323188:Q148P;ENSP00000392029:Q148P;ENSP00000373307:Q148P;ENSP00000385976:Q148P;ENSP00000284995:Q148P;ENSP00000407974:Q148P;ENSP00000416510:Q148P	ENSP00000284995:Q148P	Q	+	2	0	TSEN2	12519895	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.693000	0.01917	-1.355000	0.02186	0.496000	0.49642	CAA		0.507	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		C	12544895	A	C	12544895	3	2	530	1	0	0	0	0	1	0	0	0	16617	130	5	5	457	5	TSEN2	3	12544895	Missense_Mutation	SNP	A	TCGA-CJ-4908-01A-01D-1429-08	2356598	12544895	185477535	5	28329											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52661377	52661377	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr3:52661377T>A	ENST00000296302.7	-	13	1454	c.1453A>T	c.(1453-1455)Aaa>Taa	p.K485*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K485*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K485*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K485*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K485*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.K453*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K485*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K485*			Q86U86	PB1_HUMAN	polybromo 1	485					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K485*(2)|p.K453*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCAAGCTCTTTCTTCTTTGCC	0.428			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											110	98	102					3																	52661377		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1453A>T	3.37:g.52661377T>A	ENSP00000296302:p.Lys485*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	39	7.632946	0.98403	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.818	16.3943	0.83563	0.0:0.0:0.0:1.0	.	.	.	.	X	453;485;485;485;485;485;485;485;485;429	.	ENSP00000296302:K485X	K	-	1	0	PBRM1	52636417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.412000	0.80091	2.281000	0.76405	0.533000	0.62120	AAA		0.428	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52661377	T	A	52661377	4	1	530	1	0	0	0	0	0	1	0	0	11493	1792	62	5	3519	5	PBRM1	3	52661377	Nonsense_Mutation	SNP	T	TCGA-CJ-4908-01A-01D-1429-08	40116482	52661377	145361053	6	28330											
ARHGEF3	50650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	56779390	56779390	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr3:56779390A>G	ENST00000296315.3	-	7	881	c.713T>C	c.(712-714)cTa>cCa	p.L238P	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L209P|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L244P|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L270P|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L238P|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.L244P	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	238	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L238P(2)|p.L270P(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ACATCGCTGTAGGAAATCCTG	0.493																																																3	Substitution - Missense(3)	kidney(3)											187	199	195					3																	56779390		2203	4300	6503	SO:0001583	missense	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.713T>C	3.37:g.56779390A>G	ENSP00000296315:p.Leu238Pro		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542534	0.85917	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.45	5.45	0.79879	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.88537	0.6463	H	0.94385	3.53	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;1.0;1.0;1.0;1.0	D	0.91666	0.5346	10	0.87932	D	0	-16.6955	16.226	0.82293	1.0:0.0:0.0:0.0	.	244;209;36;238;270;238;244	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	P	238;270;244;244;209;238	ENSP00000296315:L238P;ENSP00000341071:L270P;ENSP00000410922:L244P;ENSP00000420420:L244P;ENSP00000418826:L209P;ENSP00000417986:L238P	ENSP00000296315:L238P	L	-	2	0	ARHGEF3	56754430	1.000000	0.71417	0.943000	0.38184	0.994000	0.84299	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	CTA		0.493	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		G	56779390	A	G	56779390	3	3	530	1	0	0	0	0	1	0	0	0	904	420	15	3	883	3	ARHGEF3	3	56779390	Missense_Mutation	SNP	A	TCGA-CJ-4908-01A-01D-1429-08	4118013	56779390	141243040	7	28331											
FGFR3	2261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1807850	1807850	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr4:1807850G>T	ENST00000260795.2	+	13	2011	c.1909G>T	c.(1909-1911)Ggg>Tgg	p.G637W	FGFR3_ENST00000340107.4_Missense_Mutation_p.G639W|FGFR3_ENST00000440486.2_Missense_Mutation_p.G637W|FGFR3_ENST00000481110.2_Missense_Mutation_p.G638W|FGFR3_ENST00000352904.1_Missense_Mutation_p.G525W|FGFR3_ENST00000412135.2_Missense_Mutation_p.G525W			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.G639W(1)|p.G637W(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CGCAGACTTCGGGCTGGCCCG	0.652		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	2	Substitution - Missense(2)	kidney(2)											42	42	42					4																	1807850		2202	4300	6502	SO:0001583	missense	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1909G>T	4.37:g.1807850G>T	ENSP00000260795:p.Gly637Trp		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	15.65	2.897125	0.52121	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.99298	-5.71;-5.71;-5.71;-5.71;-5.71;-5.71	4.35	4.35	0.52113	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.99609	4.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96582	0.9431	10	0.87932	D	0	.	17.2158	0.86943	0.0:0.0:1.0:0.0	.	639;525;637;638	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	W	638;639;637;525;637;525	ENSP00000420533:G638W;ENSP00000339824:G639W;ENSP00000414914:G637W;ENSP00000412903:G525W;ENSP00000260795:G637W;ENSP00000231803:G525W	ENSP00000260795:G637W	G	+	1	0	FGFR3	1777648	1.000000	0.71417	0.990000	0.47175	0.281000	0.26958	9.427000	0.97472	2.127000	0.65507	0.448000	0.29417	GGG		0.652	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		T	1807850	G	T	1807850	3	4	530	1	0	0	0	0	1	0	0	0	5869	1116	39	4	2114	4	FGFR3	4	1807850	Missense_Mutation	SNP	G	TCGA-CJ-4908-01A-01D-1429-08		1807850	189346426	8	28332											
ACTBL2	345651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	56778275	56778275	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr5:56778275C>A	ENST00000423391.1	-	1	361	c.260G>T	c.(259-261)tGg>tTg	p.W87L	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	87						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.W87L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TGTGTGGTACCAGATCTTTTC	0.537																																																1	Substitution - Missense(1)	kidney(1)											97	81	87					5																	56778275		2203	4300	6503	SO:0001583	missense	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.260G>T	5.37:g.56778275C>A	ENSP00000416706:p.Trp87Leu		B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792302	0.50102	.	.	ENSG00000169067	ENST00000423391	D	0.95482	-3.72	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000005	D	0.97349	0.9133	M	0.81614	2.55	0.58432	D	0.999998	P	0.39094	0.659	P	0.56612	0.802	D	0.97969	1.0342	10	0.87932	D	0	.	15.6308	0.76906	0.0:1.0:0.0:0.0	.	87	Q562R1	ACTBL_HUMAN	L	87	ENSP00000416706:W87L	ENSP00000416706:W87L	W	-	2	0	ACTBL2	56814032	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.645000	0.83430	2.544000	0.85801	0.655000	0.94253	TGG		0.537	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		A	56778275	C	A	56778275	3	1	530	1	0	0	0	0	1	0	0	0	194	595	21	4	874	4	ACTBL2	5	56778275	Missense_Mutation	SNP	C	TCGA-CJ-4908-01A-01D-1429-08		56778275	124136985	9	28333											
ZSCAN16	80345	hgsc.bcm.edu;ucsc.edu	37	6	28097728	28097729	+	Stop_Codon_Del	DEL	AT	AT	-			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr6:28097728_28097729delAT	ENST00000340487.4	+	0	1196_1197				ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AACTCTACTAATATAGCAGTAA	0.361																																																0																																										SO:0001567	stop_retained_variant	80345			AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"-", "Zinc fingers, C2H2-type"	20813	protein-coding gene	gene with protein product			"zinc finger protein 392", "zinc finger protein 435"	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	Exception_encountered	6.37:g.28097730_28097731delAT			Q9H6K2	Frame_Shift_Del	DEL	ENST00000340487.4	37	CCDS4644.1																																																																																				0.361	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		-	28097729	AT	-	28097728	7	5	530	1	0	1	0	1	0	0	0	0	18234	108	4	0	1057	0	ZSCAN16	6	28097728	Stop_Codon_Del	DEL	AT	TCGA-CJ-4908-01A-01D-1429-08		28097728	143017339	10	28334											
RDBP	7936	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	31922556	31922556	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr6:31922556C>G	ENST00000375429.3	-	7	744	c.518G>C	c.(517-519)cGc>cCc	p.R173P	MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000444811.2_Missense_Mutation_p.R143P|NELFE_ENST00000375425.5_Missense_Mutation_p.R180P	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	173					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R173P(1)									GGCACCACTGCGTTCTTCATA	0.632																																																1	Substitution - Missense(1)	kidney(1)											63	68	66					6																	31922556		2203	4300	6503	SO:0001583	missense	7936			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.518G>C	6.37:g.31922556C>G	ENSP00000364578:p.Arg173Pro		A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	C	9.682	1.149569	0.21288	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T	0.49720	0.77;0.77;0.95;0.95;0.95	5.15	1.36	0.22044	.	0.260360	0.31554	N	0.007448	T	0.08626	0.0214	N	0.08118	0	0.23962	N	0.996338	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.25745	-1.0123	10	0.54805	T	0.06	-1.7649	4.2187	0.10547	0.0:0.5456:0.1696:0.2848	.	143;168;168;173	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	P	173;180;143;168;173;168	ENSP00000364578:R173P;ENSP00000364574:R180P;ENSP00000388400:R143P;ENSP00000397914:R168P;ENSP00000414029:R168P	ENSP00000364574:R180P	R	-	2	0	RDBP	32030535	0.976000	0.34144	0.097000	0.21041	0.184000	0.23303	2.549000	0.45803	0.064000	0.16427	-0.136000	0.14681	CGC		0.632	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			G	31922556	C	G	31922556	3	3	530	1	0	0	0	0	1	0	0	0	13194	768	27	4	644	4	RDBP	6	31922556	Missense_Mutation	SNP	C	TCGA-CJ-4908-01A-01D-1429-08	3824828	31922556	139192511	11	28335											
SLC35A1	10559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	88210968	88210968	+	Silent	SNP	T	T	C			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr6:88210968T>C	ENST00000369552.4	+	4	474	c.447T>C	c.(445-447)ttT>ttC	p.F149F	SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369556.3_Silent_p.F149F|SLC35A1_ENST00000544441.1_Silent_p.F15F|SLC35A1_ENST00000369557.5_Silent_p.F149F|C6orf165_ENST00000506888.1_3'UTR	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	149					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)	p.F149F(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTCAGTTTTTATGCTGTGTG	0.403																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)											1	Substitution - coding silent(1)	kidney(1)											111	109	109					6																	88210968		2203	4300	6503	SO:0001819	synonymous_variant	10559			D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"Solute carriers"	11021	protein-coding gene	gene with protein product		605634	"solute carrier family 35 (UDP-galactose transporter), member 1"			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.447T>C	6.37:g.88210968T>C			Q5W1L8	Silent	SNP	ENST00000369552.4	37	CCDS5010.1																																																																																				0.403	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041446.1			C	88210968	T	C	88210968	2	2	530	1	0	0	0	0	0	0	0	1	14576	1751	61	3		3	SLC35A1	6	88210968	Silent	SNP	T	TCGA-CJ-4908-01A-01D-1429-08	56288412	88210968	82904099	12	28336											
NUP205	23165	hgsc.bcm.edu;ucsc.edu	37	7	135292022	135292022	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr7:135292022delT	ENST00000285968.6	+	22	3124	c.3098delT	c.(3097-3099)cttfs	p.L1033fs		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1033					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CGGACATGCCTTCACGCCATT	0.453																																																0													114	107	109					7																	135292022		2203	4300	6503	SO:0001589	frameshift_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3098delT	7.37:g.135292022delT	ENSP00000285968:p.Leu1033fs		A6H8X3|Q86YC1	Frame_Shift_Del	DEL	ENST00000285968.6	37	CCDS34759.1																																																																																				0.453	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			-	135292022	T	-	135292022	7	5	530	1	0	1	0	1	0	0	0	0	10761	1609	56	0	3184	0	NUP205	7	135292022	Frame_Shift_Del	DEL	T	TCGA-CJ-4908-01A-01D-1429-08		135292022	23846641	13	28337											
VPS28	51160	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145649316	145649316	+	Intron	SNP	A	A	C			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr8:145649316A>C	ENST00000526054.1	-	9	586				VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000377348.2_Missense_Mutation_p.L219R|VPS28_ENST00000529182.1_Missense_Mutation_p.L219R|VPS28_ENST00000292510.4_Intron			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)						endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.L219R(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGGGAGTGCAGCACAGGGCA	0.677																																																1	Substitution - Missense(1)	kidney(1)											42	46	45					8																	145649316		2203	4299	6502	SO:0001627	intron_variant	51160			AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"vacuolar protein sorting 28 (yeast)"				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.549-11T>G	8.37:g.145649316A>C			Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	a	15.84	2.952119	0.53293	.	.	ENSG00000160948	ENST00000529182;ENST00000377348	.	.	.	3.7	2.56	0.30785	.	13.725800	0.00868	N	0.001985	T	0.45677	0.1354	.	.	.	0.09310	N	1	P	0.40794	0.729	P	0.45232	0.474	T	0.35375	-0.9791	8	0.87932	D	0	.	7.3067	0.26451	0.8908:0.0:0.1091:0.0	.	219	Q9UK41-2	.	R	219	.	ENSP00000366565:L219R	L	-	2	0	VPS28	145620124	0.000000	0.05858	0.017000	0.16124	0.015000	0.08874	-0.036000	0.12185	0.796000	0.33947	0.492000	0.49549	CTG		0.677	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			C	145649316	A	C	145649316	1	2	530	0	1	0	0	0	0	0	0	0	17204	188	7	5		5	VPS28	8	145649316	Intron	SNP	A	TCGA-CJ-4908-01A-01D-1429-08		145649316	714706	14	28338											
SEMA4D	10507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	92008488	92008488	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr9:92008488G>A	ENST00000450295.1	-	7	1273	c.497C>T	c.(496-498)tCc>tTc	p.S166F	SEMA4D_ENST00000343780.4_Missense_Mutation_p.S166F|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S166F|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S166F|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S166F|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S166F|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S166F|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S166F			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	166	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.S166F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						AACCATGACGGATGTGTAGCT	0.428																																																1	Substitution - Missense(1)	kidney(1)											271	201	225					9																	92008488		2203	4300	6503	SO:0001583	missense	10507			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.497C>T	9.37:g.92008488G>A	ENSP00000416523:p.Ser166Phe		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618695	0.87460	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63	4.59	4.59	0.56863	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.105137	0.64402	D	0.000003	T	0.42720	0.1215	M	0.84156	2.68	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.48681	-0.9014	10	0.87932	D	0	.	17.9498	0.89048	0.0:0.0:1.0:0.0	.	166;166	Q92854-2;Q92854	.;SEM4D_HUMAN	F	166	ENSP00000344923:S166F;ENSP00000391733:S166F;ENSP00000411981:S166F;ENSP00000343418:S166F;ENSP00000416523:S166F;ENSP00000405102:S166F;ENSP00000348822:S166F;ENSP00000388768:S166F	ENSP00000344923:S166F	S	-	2	0	SEMA4D	91198308	1.000000	0.71417	0.676000	0.29932	0.973000	0.67179	9.086000	0.94088	2.539000	0.85634	0.655000	0.94253	TCC		0.428	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		A	92008488	G	A	92008488	3	1	530	1	0	0	0	0	1	0	0	0	14040	1174	41	2	2701	2	SEMA4D	9	92008488	Missense_Mutation	SNP	G	TCGA-CJ-4908-01A-01D-1429-08		92008488	49204943	15	28339											
CUBN	8029	broad.mit.edu;hgsc.bcm.edu	37	10	16882524	16882524	+	Silent	SNP	A	A	G			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr10:16882524A>G	ENST00000377833.4	-	62	9902	c.9837T>C	c.(9835-9837)ggT>ggC	p.G3279G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3279	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G3279G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTATGTTCCACCACAAGGCA	0.453																																																1	Substitution - coding silent(1)	kidney(1)											85	85	85					10																	16882524		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9837T>C	10.37:g.16882524A>G			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	16882524	A	G	16882524	2	3	530	1	0	0	0	0	0	0	0	1	4053	146	6	3		3	CUBN	10	16882524	Silent	SNP	A	TCGA-CJ-4908-01A-01D-1429-08		16882524	118652223	16	28340											
C10orf79	80217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105942200	105942200	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr10:105942200G>T	ENST00000278064.2	-	17	2331	c.2006C>A	c.(2005-2007)gCc>gAc	p.A669D	WDR96_ENST00000428666.1_Missense_Mutation_p.A739D|WDR96_ENST00000357060.3_Missense_Mutation_p.A738D														p.A738D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTGTCCATGGCGCTGCTCAG	0.393																																																1	Substitution - Missense(1)	kidney(1)											179	160	166					10																	105942200		2203	4300	6503	SO:0001583	missense	0																														ENST00000278064.2:c.2006C>A	10.37:g.105942200G>T	ENSP00000278064:p.Ala669Asp			Missense_Mutation	SNP	ENST00000278064.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.03|11.03	1.518206|1.518206	0.27211|0.27211	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064|ENST00000434629	T;T;T|.	0.14766|.	2.51;2.5;2.48|.	4.95|4.95	0.194|0.194	0.15143|0.15143	.|.	0.761995|.	0.11912|.	N|.	0.517504|.	T|T	0.18593|0.18593	0.0446|0.0446	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|.	0.16396|.	0.016;0.011;0.017|.	B;B;B|.	0.16289|.	0.015;0.014;0.011|.	T|T	0.27434|0.27434	-1.0074|-1.0074	10|5	0.38643|.	T|.	0.18|.	.|.	5.2071|5.2071	0.15297|0.15297	0.2052:0.4124:0.3824:0.0|0.2052:0.4124:0.3824:0.0	.|.	739;739;738|.	G5E9L1;B4DHB6;Q8NDM7|.	.;.;WDR96_HUMAN|.	D|T	738;739;669|99	ENSP00000349568:A738D;ENSP00000400289:A739D;ENSP00000278064:A669D|.	ENSP00000278064:A669D|.	A|P	-|-	2|1	0|0	WDR96|WDR96	105932190|105932190	0.002000|0.002000	0.14202|0.14202	0.046000|0.046000	0.18839|0.18839	0.003000|0.003000	0.03518|0.03518	-0.355000|-0.355000	0.07671|0.07671	0.204000|0.204000	0.20548|0.20548	0.557000|0.557000	0.71058|0.71058	GCC|CCA		0.393	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			T	105942200	G	T	105942200	3	4	530	1	0	0	0	0	1	0	0	0	1620	1203	42	4	2872	4	C10orf79	10	105942200	Missense_Mutation	SNP	G	TCGA-CJ-4908-01A-01D-1429-08	89059676	105942200	29592547	17	28341											
CNGA4	1262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6262833	6262833	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr11:6262833C>A	ENST00000379936.2	+	5	1205	c.1090C>A	c.(1090-1092)Ctg>Atg	p.L364M	CNGA4_ENST00000533426.1_Missense_Mutation_p.L133M	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	364					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.L364M(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTGAAGCTGCAGCCCCA	0.582																																																1	Substitution - Missense(1)	kidney(1)											144	131	136					11																	6262833		2201	4296	6497	SO:0001583	missense	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1090C>A	11.37:g.6262833C>A	ENSP00000369268:p.Leu364Met			Missense_Mutation	SNP	ENST00000379936.2	37	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058355	0.76074	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	D;D	0.96830	-4.14;-4.14	5.19	4.25	0.50352	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.64402	D	0.000001	D	0.97028	0.9029	L	0.55017	1.72	0.58432	D	0.999996	D;D;D	0.89917	0.997;0.978;1.0	D;P;D	0.85130	0.96;0.764;0.997	D	0.96323	0.9238	10	0.52906	T	0.07	.	13.0781	0.59099	0.0:0.9196:0.0:0.0803	.	133;364;324	B4DYQ8;Q8IV77;Q8IV77-2	.;CNGA4_HUMAN;.	M	133;364	ENSP00000433399:L133M;ENSP00000369268:L364M	ENSP00000369268:L364M	L	+	1	2	CNGA4	6219409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.001000	0.49488	2.691000	0.91804	0.655000	0.94253	CTG		0.582	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		A	6262833	C	A	6262833	3	1	530	1	0	0	0	0	1	0	0	0	3601	796	28	4	1108	4	CNGA4	11	6262833	Missense_Mutation	SNP	C	TCGA-CJ-4908-01A-01D-1429-08		6262833	128743683	18	28342											
MRVI1	10335	broad.mit.edu	37	11	10647673	10647673	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr11:10647673C>A	ENST00000436272.1	-	8	1205	c.1127G>T	c.(1126-1128)gGc>gTc	p.G376V	MRVI1_ENST00000424001.1_Missense_Mutation_p.G88V|MRVI1_ENST00000545852.1_Missense_Mutation_p.G88V|MRVI1_ENST00000531107.1_Missense_Mutation_p.G395V|MRVI1_ENST00000527509.2_Missense_Mutation_p.G312V|MRVI1_ENST00000552103.1_Missense_Mutation_p.G312V|MRVI1_ENST00000534266.2_Missense_Mutation_p.G88V|MRVI1_ENST00000547195.1_Missense_Mutation_p.G312V|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000421747.1_Missense_Mutation_p.G394V|MRVI1_ENST00000558540.1_Missense_Mutation_p.G88V|MRVI1_ENST00000423302.2_Missense_Mutation_p.G403V			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	376					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.G376V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CAGCCGGGGGCCAGGTTCTTC	0.662																																																1	Substitution - Missense(1)	kidney(1)											16	18	18					11																	10647673		1868	4084	5952	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1127G>T	11.37:g.10647673C>A	ENSP00000412229:p.Gly376Val		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37		.	.	.	.	.	.	.	.	.	.	C	12.77	2.039047	0.35989	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.71	2.82	0.32997	.	0.058264	0.64402	D	0.000002	T	0.30417	0.0764	L	0.51422	1.61	0.21256	N	0.999746	D;D;D	0.67145	0.996;0.996;0.973	D;D;P	0.63597	0.916;0.916;0.73	T	0.02560	-1.1141	10	0.72032	D	0.01	-7.7837	11.3507	0.49585	0.0:0.8088:0.0:0.1912	.	376;395;394	Q9Y6F6;E9PQY6;Q9Y6F6-4	MRVI1_HUMAN;.;.	V	394;377;376;312;312;88;88;403;395;312	ENSP00000414598:G394V;ENSP00000412229:G376V;ENSP00000448278:G312V;ENSP00000446764:G312V;ENSP00000441971:G88V;ENSP00000401205:G88V;ENSP00000412130:G403V;ENSP00000432436:G395V;ENSP00000432067:G312V	ENSP00000307885:G377V	G	-	2	0	MRVI1	10604249	0.518000	0.26234	0.409000	0.26459	0.337000	0.28794	1.637000	0.37155	1.438000	0.47492	-0.251000	0.11542	GGC		0.662	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		A	10647673	C	A	10647673	3	1	530	1	0	0	0	0	1	0	0	0	9855	739	26	4	1582	4	MRVI1	11	10647673	Missense_Mutation	SNP	C	TCGA-CJ-4908-01A-01D-1429-08	4384840	10647673	124358843	19	28343											
ADRBK1	156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	67050628	67050628	+	Silent	SNP	T	T	C			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr11:67050628T>C	ENST00000308595.5	+	15	1547	c.1257T>C	c.(1255-1257)ccT>ccC	p.P419P	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	419	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.P419P(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTTCTCCCCTGAACTACGCT	0.632																																																1	Substitution - coding silent(1)	kidney(1)											118	120	119					11																	67050628		2200	4295	6495	SO:0001819	synonymous_variant	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1257T>C	11.37:g.67050628T>C			B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	CCDS8156.1																																																																																				0.632	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		C	67050628	T	C	67050628	2	2	530	1	0	0	0	0	0	0	0	1	343	1567	55	3		3	ADRBK1	11	67050628	Silent	SNP	T	TCGA-CJ-4908-01A-01D-1429-08	56402955	67050628	67955888	20	28344											
DDX10	1662	broad.mit.edu;hgsc.bcm.edu	37	11	108810996	108810996	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr11:108810996T>C	ENST00000322536.3	+	18	2603	c.2474T>C	c.(2473-2475)aTg>aCg	p.M825T	DDX10_ENST00000534221.1_3'UTR	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	825					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.M825T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGCAGGGGATGAAGAAGAGG	0.418			T	NUP98	AML*																																		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	1	Substitution - Missense(1)	kidney(1)											87	78	81					11																	108810996		2201	4298	6499	SO:0001583	missense	1662			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2474T>C	11.37:g.108810996T>C	ENSP00000314348:p.Met825Thr		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	T	0.060	-1.226129	0.01518	.	.	ENSG00000178105	ENST00000322536;ENST00000456020	T	0.38401	1.14	6.07	2.42	0.29668	.	0.563759	0.17797	N	0.161688	T	0.17492	0.0420	N	0.16478	0.41	0.39119	D	0.96163	B	0.02656	0.0	B	0.04013	0.001	T	0.10359	-1.0633	10	0.15499	T	0.54	-8.6865	4.5096	0.11905	0.1428:0.1554:0.0:0.7018	.	825	Q13206	DDX10_HUMAN	T	825;731	ENSP00000314348:M825T	ENSP00000314348:M825T	M	+	2	0	DDX10	108316206	0.984000	0.35163	0.927000	0.36925	0.006000	0.05464	-0.022000	0.12480	0.162000	0.19483	-0.259000	0.10710	ATG		0.418	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		C	108810996	T	C	108810996	3	2	530	1	0	0	0	0	1	0	0	0	4344	1464	51	3	2544	3	DDX10	11	108810996	Missense_Mutation	SNP	T	TCGA-CJ-4908-01A-01D-1429-08	41760368	108810996	26195520	21	28345											
C12orf41	54934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49047945	49047945	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr12:49047945A>C	ENST00000420613.2	-	10	1408	c.1361T>G	c.(1360-1362)aTg>aGg	p.M454R	KANSL2_ENST00000548701.1_5'UTR|KANSL2_ENST00000550347.1_Missense_Mutation_p.M637R|SNORA2A_ENST00000383885.1_RNA|SNORA34_ENST00000408564.2_RNA|KANSL2_ENST00000553086.1_Missense_Mutation_p.M416R	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	454					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)		p.M454R(2)									ATCTCCAGCCATCTGCATCTG	0.453																																																2	Substitution - Missense(2)	kidney(2)											50	46	47					12																	49047945		1876	4116	5992	SO:0001583	missense	0			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.1361T>G	12.37:g.49047945A>C	ENSP00000415436:p.Met454Arg		Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.428325	0.25726	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086	T;T;T;T	0.39997	1.51;1.05;1.05;1.51	5.37	2.94	0.34122	.	0.758825	0.13325	N	0.396381	T	0.21387	0.0515	N	0.08118	0	0.46356	D	0.999009	B;B;B	0.30068	0.267;0.004;0.007	B;B;B	0.32762	0.152;0.013;0.018	T	0.04165	-1.0972	10	0.18276	T	0.48	-0.0262	7.0846	0.25249	0.8209:0.0:0.1791:0.0	.	637;454;225	F8VX10;Q9H9L4;Q9H9L4-2	.;CL041_HUMAN;.	R	637;454;168;416	ENSP00000449747:M637R;ENSP00000415436:M454R;ENSP00000447608:M168R;ENSP00000448833:M416R	ENSP00000415436:M454R	M	-	2	0	C12orf41	47334212	0.141000	0.22595	0.509000	0.27700	0.993000	0.82548	1.523000	0.35932	0.457000	0.26962	0.528000	0.53228	ATG		0.453	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		C	49047945	A	C	49047945	3	2	530	1	0	0	0	0	1	0	0	0	1689	217	8	5	121	5	C12orf41	12	49047945	Missense_Mutation	SNP	A	TCGA-CJ-4908-01A-01D-1429-08		49047945	84803950	22	28346											
ABCA3	21	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2328063	2328063	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr16:2328063C>T	ENST00000301732.5	-	31	5426	c.4726G>A	c.(4726-4728)Gag>Aag	p.E1576K	ABCA3_ENST00000382381.3_Missense_Mutation_p.E1518K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1576	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.E1576K(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCCTCACACTCCTCCATGCTG	0.622																																																1	Substitution - Missense(1)	kidney(1)											27	29	28					16																	2328063		2198	4300	6498	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4726G>A	16.37:g.2328063C>T	ENSP00000301732:p.Glu1576Lys		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231589	0.79688	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.99515	-6.06	5.29	5.29	0.74685	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.97697	1.0182	10	0.87932	D	0	.	17.5036	0.87738	0.0:1.0:0.0:0.0	.	1580;1576	Q4LE27;Q99758	.;ABCA3_HUMAN	K	1576;1580	ENSP00000301732:E1576K	ENSP00000301732:E1576K	E	-	1	0	ABCA3	2268064	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.740000	0.84986	2.480000	0.83734	0.407000	0.27541	GAG		0.622	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		T	2328063	C	T	2328063	3	4	530	1	0	0	0	0	1	0	0	0	33	864	30	2	400	2	ABCA3	16	2328063	Missense_Mutation	SNP	C	TCGA-CJ-4908-01A-01D-1429-08		2328063	88026690	23	28347											
SUPT6H	6830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27023953	27023953	+	Silent	SNP	T	T	C			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr17:27023953T>C	ENST00000314616.6	+	30	4345	c.4062T>C	c.(4060-4062)gaT>gaC	p.D1354D	SUPT6H_ENST00000347486.4_Silent_p.D1354D	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1354	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1354D(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACCAGGGTGATGTGATTATCC	0.498																																																1	Substitution - coding silent(1)	kidney(1)											173	142	152					17																	27023953		2203	4300	6503	SO:0001819	synonymous_variant	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4062T>C	17.37:g.27023953T>C			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	CCDS32596.1																																																																																				0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		C	27023953	T	C	27023953	2	2	530	1	0	0	0	0	0	0	0	1	15405	1461	51	3		3	SUPT6H	17	27023953	Silent	SNP	T	TCGA-CJ-4908-01A-01D-1429-08		27023953	54171257	24	28348											
ACACA	31	broad.mit.edu;hgsc.bcm.edu	37	17	35581913	35581913	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr17:35581913C>T	ENST00000394406.2	-	27	3553	c.3363G>A	c.(3361-3363)caG>caA	p.Q1121Q	ACACA_ENST00000335166.5_Splice_Site_p.Q1043Q|ACACA_ENST00000360679.3_Splice_Site_p.Q1063Q|ACACA_ENST00000353139.5_Splice_Site_p.Q1158Q	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1121					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.Q1063Q(1)|p.Q1158Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	atatatataCCTGCAGGTTCT	0.343																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											2	Substitution - coding silent(2)	kidney(2)											41	41	41					17																	35581913		2203	4300	6503	SO:0001630	splice_region_variant	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3363+1G>A	17.37:g.35581913C>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	CCDS11317.1																																																																																				0.343	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	Silent	T	35581913	C	T	35581913	5	4	530	1	0	0	0	0	0	0	1	0	106	695	24	2	3797	2	ACACA	17	35581913	Splice_Site	SNP	C	TCGA-CJ-4908-01A-01D-1429-08	8557960	35581913	45613297	25	28349											
KIAA1267	284058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	44248412	44248412	+	Silent	SNP	T	T	C			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr17:44248412T>C	ENST00000262419.6	-	2	1568	c.1098A>G	c.(1096-1098)ggA>ggG	p.G366G	KANSL1_ENST00000576248.1_5'UTR|KANSL1_ENST00000572904.1_Silent_p.G366G|KANSL1_ENST00000432791.1_Silent_p.G366G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.G366G|KANSL1_ENST00000575318.1_Silent_p.G366G	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	366					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G366G(1)									AGTTGCTAAGTCCCTCTGAAG	0.458																																																1	Substitution - coding silent(1)	kidney(1)											79	102	94					17																	44248412		2203	4300	6503	SO:0001819	synonymous_variant	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1098A>G	17.37:g.44248412T>C			A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	CCDS11503.1																																																																																				0.458	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		C	44248412	T	C	44248412	2	2	530	1	0	0	0	0	0	0	0	1	8221	1654	58	3		3	KIAA1267	17	44248412	Silent	SNP	T	TCGA-CJ-4908-01A-01D-1429-08	8666499	44248412	36946798	26	28350											
SCRN2	90507	broad.mit.edu;ucsc.edu	37	17	45918176	45918176	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr17:45918176A>T	ENST00000290216.9	-	2	159	c.34T>A	c.(34-36)Tgc>Agc	p.C12S	SCRN2_ENST00000584123.1_Missense_Mutation_p.C20S|SCRN2_ENST00000407215.3_Missense_Mutation_p.C12S	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	12						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)	p.C12S(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						AAGCAGTCGCAGGAACATGGG	0.667																																																1	Substitution - Missense(1)	kidney(1)											28	34	32					17																	45918176		2203	4300	6503	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.34T>A	17.37:g.45918176A>T	ENSP00000290216:p.Cys12Ser		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	a	28.0	4.879682	0.91740	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.19532	2.15;2.14	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	M	0.82823	2.61	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.994	T	0.56619	-0.7949	10	0.87932	D	0	-20.9632	14.6923	0.69096	1.0:0.0:0.0:0.0	.	12;12;12	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	S	12	ENSP00000290216:C12S;ENSP00000383935:C12S	ENSP00000290216:C12S	C	-	1	0	SCRN2	43273175	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.274000	0.78538	2.130000	0.65690	0.529000	0.55759	TGC		0.667	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		T	45918176	A	T	45918176	3	4	530	1	0	0	0	0	1	0	0	0	13945	188	7	5	1289	5	SCRN2	17	45918176	Missense_Mutation	SNP	A	TCGA-CJ-4908-01A-01D-1429-08	1669764	45918176	35277034	27	28351											
MXRA7	439921	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74673741	74673741	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr17:74673741C>G	ENST00000355797.3	-	4	552	c.544G>C	c.(544-546)Gac>Cac	p.D182H		NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	182						integral component of membrane (GO:0016021)		p.D182H(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TCCTTGTTGTCTTTCATGAGC	0.567																																																1	Substitution - Missense(1)	kidney(1)											146	126	133					17																	74673741		2203	4300	6503	SO:0001583	missense	439921			BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.544G>C	17.37:g.74673741C>G	ENSP00000348050:p.Asp182His		Q0P5W3	Missense_Mutation	SNP	ENST00000355797.3	37	CCDS32745.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560079	0.45590	.	.	ENSG00000182534	ENST00000355797	T	0.33865	1.39	5.54	5.54	0.83059	.	.	.	.	.	T	0.50343	0.1610	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.49707	-0.8911	9	0.72032	D	0.01	.	11.7089	0.51614	0.0:0.9184:0.0:0.0816	.	182	P84157	MXRA7_HUMAN	H	182	ENSP00000348050:D182H	ENSP00000348050:D182H	D	-	1	0	MXRA7	72185336	1.000000	0.71417	0.998000	0.56505	0.318000	0.28184	4.987000	0.63857	2.611000	0.88343	0.643000	0.83706	GAC		0.567	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450983.1	NM_001008529		G	74673741	C	G	74673741	3	3	530	1	0	0	0	0	1	0	0	0	10006	913	32	4	74	4	MXRA7	17	74673741	Missense_Mutation	SNP	C	TCGA-CJ-4908-01A-01D-1429-08	28755565	74673741	6521469	28	28352											
MLLT1	4298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6270745	6270745	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr19:6270745A>T	ENST00000252674.7	-	2	201	c.38T>A	c.(37-39)cTg>cAg	p.L13Q		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	13	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)	p.L13Q(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GCGATGCCCCAGCTCTAACCT	0.617			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		19	19p13.3	4298	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"		L	1	Substitution - Missense(1)	kidney(1)											91	70	77					19																	6270745		2203	4300	6503	SO:0001583	missense	4298				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.38T>A	19.37:g.6270745A>T	ENSP00000252674:p.Leu13Gln	632	Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.788138	0.90367	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.164448	0.39909	N	0.001240	T	0.75162	0.3812	L	0.59436	1.845	0.80722	D	1	D	0.60575	0.988	D	0.76071	0.987	T	0.77795	-0.2454	9	0.87932	D	0	-18.3703	13.3955	0.60849	1.0:0.0:0.0:0.0	.	13	Q03111	ENL_HUMAN	Q	13	.	ENSP00000252674:L13Q	L	-	2	0	MLLT1	6221745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.228000	0.95250	2.051000	0.60960	0.459000	0.35465	CTG		0.617	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		T	6270745	A	T	6270745	3	4	530	1	0	0	0	0	1	0	0	0	9627	188	7	5	1685	5	MLLT1	19	6270745	Missense_Mutation	SNP	A	TCGA-CJ-4908-01A-01D-1429-08		6270745	52858238	29	28353											
ACSS2	55902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33500951	33500951	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr20:33500951G>T	ENST00000360596.2	+	3	638	c.427G>T	c.(427-429)Gtc>Ttc	p.V143F	ACSS2_ENST00000336325.4_Missense_Mutation_p.V93F|ACSS2_ENST00000253382.5_Missense_Mutation_p.V143F|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	143					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.V143F(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCAGCTTCTGGTCCAAGTGTG	0.522																																																2	Substitution - Missense(2)	kidney(2)											165	150	155					20																	33500951		2203	4300	6503	SO:0001583	missense	55902			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.427G>T	20.37:g.33500951G>T	ENSP00000353804:p.Val143Phe		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808492	0.31961	.	.	ENSG00000131069	ENST00000488172;ENST00000336325;ENST00000360596;ENST00000374693;ENST00000484354;ENST00000493805;ENST00000473172;ENST00000253382	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;1.03;1.03;0.61	5.34	0.879	0.19155	AMP-dependent synthetase/ligase (1);	0.968380	0.08582	N	0.924352	T	0.42787	0.1218	L	0.42744	1.35	0.24462	N	0.994436	B;B	0.20988	0.05;0.05	B;B	0.38683	0.217;0.279	T	0.54241	-0.8323	10	0.72032	D	0.01	-22.6483	0.8236	0.01116	0.3718:0.1718:0.3039:0.1526	.	143;143	Q5QPH3;Q9NR19	.;ACSA_HUMAN	F	93;93;143;143;135;161;156;143	ENSP00000417783:V93F;ENSP00000337190:V93F;ENSP00000353804:V143F;ENSP00000419167:V135F;ENSP00000418812:V161F;ENSP00000419925:V156F;ENSP00000253382:V143F	ENSP00000253382:V143F	V	+	1	0	ACSS2	32964612	0.003000	0.15002	0.996000	0.52242	0.991000	0.79684	0.039000	0.13884	0.359000	0.24239	-0.140000	0.14226	GTC		0.522	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		T	33500951	G	T	33500951	3	4	530	1	0	0	0	0	1	0	0	0	189	1261	44	4	437	4	ACSS2	20	33500951	Missense_Mutation	SNP	G	TCGA-CJ-4908-01A-01D-1429-08		33500951	29524569	30	28354											
COL18A1	80781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	46912469	46912469	+	Silent	SNP	G	G	A	rs556113991		TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chr21:46912469G>A	ENST00000359759.4	+	22	3444	c.3423G>A	c.(3421-3423)ccG>ccA	p.P1141P	COL18A1_ENST00000400337.2_Silent_p.P726P|COL18A1_ENST00000355480.5_Silent_p.P906P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1141	Nonhelical region 5 (NC5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.P906P(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGAGCGTGCCGGGACCTGAGG	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14841	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											132	144	140					21																	46912469		1928	4127	6055	SO:0001819	synonymous_variant	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3423G>A	21.37:g.46912469G>A			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37																																																																																					0.587	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			A	46912469	G	A	46912469	2	1	530	1	0	0	0	0	0	0	0	1	3677	1103	39	1		1	COL18A1	21	46912469	Silent	SNP	G	TCGA-CJ-4908-01A-01D-1429-08		46912469	1217426	31	28355											
VSIG1	340547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	107319363	107319363	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4908-01A-01D-1429-08	TCGA-CJ-4908-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dbc5420c-5c60-4d1e-8554-9d2f6e55c502	19effa42-4c58-4a24-9cd0-264cf686c9dc	g.chrX:107319363A>T	ENST00000217957.5	+	6	862	c.745A>T	c.(745-747)Atc>Ttc	p.I249F	VSIG1_ENST00000415430.3_Missense_Mutation_p.I285F	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	249						integral component of membrane (GO:0016021)		p.I285F(2)|p.I249F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						AGGTGCCGCCATCATCATCTC	0.428																																																3	Substitution - Missense(3)	kidney(3)											192	165	175					X																	107319363		2203	4300	6503	SO:0001583	missense	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.745A>T	X.37:g.107319363A>T	ENSP00000217957:p.Ile249Phe		C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.952850	0.34471	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.77358	-1.09;-0.86	4.91	3.69	0.42338	.	0.279045	0.28853	N	0.013924	T	0.81763	0.4891	M	0.66939	2.045	0.21967	N	0.999446	D;D	0.63880	0.99;0.993	P;P	0.59288	0.784;0.855	T	0.71318	-0.4629	10	0.39692	T	0.17	.	8.0488	0.30566	0.9059:0.0:0.0941:0.0	.	285;249	C9J4P2;Q86XK7	.;VSIG1_HUMAN	F	285;249	ENSP00000402219:I285F;ENSP00000217957:I249F	ENSP00000217957:I249F	I	+	1	0	VSIG1	107206019	0.995000	0.38212	0.078000	0.20375	0.092000	0.18411	1.691000	0.37721	0.673000	0.31224	0.486000	0.48141	ATC		0.428	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		T	107319363	A	T	107319363	3	4	530	1	0	0	0	0	1	0	0	0	17227	217	8	5	879	5	VSIG1	23	107319363	Missense_Mutation	SNP	A	TCGA-CJ-4908-01A-01D-1429-08		107319363	47951197	32	28356											
KLHL21	9903	broad.mit.edu;hgsc.bcm.edu	37	1	6655551	6655551	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr1:6655551C>T	ENST00000377658.4	-	3	1545	c.1494G>A	c.(1492-1494)atG>atA	p.M498I	KLHL21_ENST00000377663.3_Missense_Mutation_p.M498I|KLHL21_ENST00000463043.1_Missense_Mutation_p.M131I|KLHL21_ENST00000467612.1_Missense_Mutation_p.M131I	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	498					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)		p.M498I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		TTACCTGATTCATGGACGGGA	0.552																																																1	Substitution - Missense(1)	kidney(1)											126	105	112					1																	6655551		2203	4300	6503	SO:0001583	missense	9903			AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"Kelch-like", "BTB/POZ domain containing"	29041	protein-coding gene	gene with protein product			"kelch-like 21 (Drosophila)"				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1494G>A	1.37:g.6655551C>T	ENSP00000366886:p.Met498Ile		B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Missense_Mutation	SNP	ENST00000377658.4	37	CCDS30575.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366411	0.82463	.	.	ENSG00000162413	ENST00000377658;ENST00000377663	T;T	0.67865	-0.29;-0.29	4.93	4.01	0.46588	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	M	0.88775	2.98	0.80722	D	1	B;B	0.33637	0.064;0.42	B;B	0.32289	0.019;0.143	T	0.75354	-0.3347	10	0.59425	D	0.04	.	13.3074	0.60359	0.0:0.9219:0.0:0.0781	.	498;498	Q9UJP4;Q9UJP4-2	KLH21_HUMAN;.	I	498	ENSP00000366886:M498I;ENSP00000366891:M498I	ENSP00000366886:M498I	M	-	3	0	KLHL21	6578138	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.587000	0.82613	1.382000	0.46385	0.655000	0.94253	ATG		0.552	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004188.1	NM_014851		T	6655551	C	T	6655551	3	4	531	1	0	0	0	0	1	0	0	0	8378	826	29	2	307	2	KLHL21	1	6655551	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08		6655551	242595070	1	28357											
CLSTN1	22883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	9809930	9809930	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr1:9809930G>T	ENST00000377298.4	-	6	1483	c.691C>A	c.(691-693)Cat>Aat	p.H231N	CLSTN1_ENST00000361311.4_Missense_Mutation_p.H221N|CLSTN1_ENST00000377288.3_Missense_Mutation_p.H231N	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.H231N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTATATTGATGTTCTTTCCCG	0.423																																																1	Substitution - Missense(1)	kidney(1)											202	172	182					1																	9809930		2203	4300	6503	SO:0001583	missense	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.691C>A	1.37:g.9809930G>T	ENSP00000366513:p.His231Asn		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888137	0.33348	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.97	5.05	0.67936	Cadherin (5);Cadherin-like (1);	0.341251	0.38720	N	0.001591	T	0.51126	0.1656	L	0.38692	1.165	0.45439	D	0.998416	B;B;B	0.22276	0.067;0.054;0.067	B;B;B	0.27380	0.079;0.047;0.079	T	0.51474	-0.8701	10	0.66056	D	0.02	-7.7848	15.4705	0.75437	0.0672:0.0:0.9328:0.0	.	231;221;231	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	N	231;221;51;231;231	ENSP00000366513:H231N;ENSP00000354997:H221N;ENSP00000401934:H51N;ENSP00000366502:H231N	ENSP00000354997:H221N	H	-	1	0	CLSTN1	9732517	1.000000	0.71417	0.224000	0.23877	0.148000	0.21650	6.570000	0.73996	2.835000	0.97688	0.591000	0.81541	CAT		0.423	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			T	9809930	G	T	9809930	3	4	531	1	0	0	0	0	1	0	0	0	3563	1377	48	4	2310	4	CLSTN1	1	9809930	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	3154379	9809930	239440691	2	28358											
ARID1A	8289	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27107213	27107213	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr1:27107213T>C	ENST00000324856.7	+	20	7195	c.6824T>C	c.(6823-6825)aTt>aCt	p.I2275T	ARID1A_ENST00000374152.2_Missense_Mutation_p.I1892T|ARID1A_ENST00000457599.2_Missense_Mutation_p.I2058T|ARID1A_ENST00000540690.1_Missense_Mutation_p.I603T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2275					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.I2275T(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCACAAGTCATTTGTGATGTA	0.498			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Missense(1)	kidney(1)											124	100	108					1																	27107213		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6824T>C	1.37:g.27107213T>C	ENSP00000320485:p.Ile2275Thr		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778358	0.49786	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.49432	0.78;0.78;3.8;0.78	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	L	0.52573	1.65	0.58432	D	0.999997	D;D;D	0.67145	0.991;0.985;0.996	P;P;D	0.64144	0.86;0.842;0.922	T	0.64702	-0.6345	10	0.87932	D	0	-5.294	14.4364	0.67284	0.0:0.0:0.0:1.0	.	1892;2275;2058	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	T	2275;2058;1892;603	ENSP00000320485:I2275T;ENSP00000387636:I2058T;ENSP00000363267:I1892T;ENSP00000442437:I603T	ENSP00000320485:I2275T	I	+	2	0	ARID1A	26979800	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.627000	0.83176	2.063000	0.61619	0.482000	0.46254	ATT		0.498	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		C	27107213	T	C	27107213	3	2	531	1	0	0	0	0	1	0	0	0	913	1493	52	3	6902	3	ARID1A	1	27107213	Missense_Mutation	SNP	T	TCGA-CJ-4912-01A-01D-1429-08	17297283	27107213	222143408	3	28359											
SLC9A1	6548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27440753	27440753	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr1:27440753G>C	ENST00000263980.3	-	2	952	c.377C>G	c.(376-378)tCa>tGa	p.S126*	SLC9A1_ENST00000374086.3_Nonsense_Mutation_p.S126*|SLC9A1_ENST00000545949.1_Intron	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	126					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.S126*(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GACGATGCTTGAGATAGTGGG	0.637																																																2	Substitution - Nonsense(2)	cervix(1)|kidney(1)											40	41	41					1																	27440753		2203	4299	6502	SO:0001587	stop_gained	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.377C>G	1.37:g.27440753G>C	ENSP00000263980:p.Ser126*		B1ALD6|D3DPL4|Q96EM2	Nonsense_Mutation	SNP	ENST00000263980.3	37	CCDS295.1	.	.	.	.	.	.	.	.	.	.	G	40	8.336982	0.98767	.	.	ENSG00000090020	ENST00000263980;ENST00000374086	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.0453	0.93018	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000263980:S126X	S	-	2	0	SLC9A1	27313340	1.000000	0.71417	0.980000	0.43619	0.977000	0.68977	9.823000	0.99369	2.751000	0.94390	0.655000	0.94253	TCA		0.637	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		C	27440753	G	C	27440753	4	2	531	1	0	0	0	0	0	1	0	0	14715	1294	45	4	2114	4	SLC9A1	1	27440753	Nonsense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	333540	27440753	221809868	4	28360											
CSMD2	114784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	34052715	34052715	+	Missense_Mutation	SNP	C	C	T	rs143826784		TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr1:34052715C>T	ENST00000373381.4	-	45	7086	c.6910G>A	c.(6910-6912)Gtc>Atc	p.V2304I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2306	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V2306I(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCTCTGTGACGACTTCGGCG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.0		0.0	False		,,,				2504	0.001															2	Substitution - Missense(2)	kidney(1)|endometrium(1)						C	ILE/VAL	0,4406		0,0,2203	119	88	98		6916	4.7	1	1	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSMD2	NM_052896.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2306/3488	34052715	1,13005	2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.6910G>A	1.37:g.34052715C>T	ENSP00000362479:p.Val2304Ile		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	13.82	2.351714	0.41700	0.0	1.16E-4	ENSG00000121904	ENST00000373381	T	0.64618	-0.11	5.84	4.74	0.60224	Complement control module (2);Sushi/SCR/CCP (3);	0.234554	0.37261	N	0.002173	T	0.37320	0.0999	N	0.05330	-0.07	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	T	0.23797	-1.0178	10	0.27785	T	0.31	.	7.4865	0.27437	0.0:0.7891:0.0:0.2109	.	2306;2304	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	2304	ENSP00000362479:V2304I	ENSP00000241312:V2306I	V	-	1	0	CSMD2	33825302	0.762000	0.28451	0.989000	0.46669	0.990000	0.78478	1.094000	0.30951	2.764000	0.94973	0.655000	0.94253	GTC		0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		T	34052715	C	T	34052715	3	4	531	1	0	0	0	0	1	0	0	0	3947	536	19	1	3643	1	CSMD2	1	34052715	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	6611962	34052715	215197906	5	28361											
ZMYM1	79830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35580008	35580008	+	Silent	SNP	C	C	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr1:35580008C>A	ENST00000373330.1	+	11	2751	c.2577C>A	c.(2575-2577)gtC>gtA	p.V859V	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.V859V			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	859						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V859V(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGAATTTGTCTTTTGTTTGA	0.323																																																1	Substitution - coding silent(1)	kidney(1)											72	61	64					1																	35580008		1814	4079	5893	SO:0001819	synonymous_variant	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2577C>A	1.37:g.35580008C>A			D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	CCDS41302.1																																																																																				0.323	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		A	35580008	C	A	35580008	2	1	531	1	0	0	0	0	0	0	0	1	17704	900	32	4		4	ZMYM1	1	35580008	Silent	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	1527293	35580008	213670613	6	28362											
BCAR3	8412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94048304	94048304	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr1:94048304T>C	ENST00000370244.1	-	9	1528	c.1240A>G	c.(1240-1242)Aag>Gag	p.K414E	BCAR3_ENST00000539242.1_Missense_Mutation_p.K90E|BCAR3_ENST00000370247.3_Missense_Mutation_p.K323E|BCAR3_ENST00000370243.1_Missense_Mutation_p.K414E|BCAR3_ENST00000260502.6_Missense_Mutation_p.K414E|BCAR3_ENST00000466632.1_5'UTR	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	414					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.K414E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GAGGGAACCTTGAGGAACGGC	0.627																																																1	Substitution - Missense(1)	kidney(1)											67	60	62					1																	94048304		2203	4300	6503	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1240A>G	1.37:g.94048304T>C	ENSP00000359264:p.Lys414Glu		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	CCDS745.1	.	.	.	.	.	.	.	.	.	.	T	1.083	-0.666469	0.03428	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.5	3.35	0.38373	.	0.365937	0.28354	N	0.015647	T	0.21468	0.0517	M	0.63428	1.95	0.41318	D	0.987152	B;B;B	0.24483	0.104;0.077;0.104	B;B;B	0.25140	0.058;0.028;0.058	T	0.17137	-1.0379	10	0.06494	T	0.89	-12.4328	11.5475	0.50702	0.0:0.0:0.1499:0.8501	.	194;414;323	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	E	323;414;414;414;90	ENSP00000359267:K323E;ENSP00000260502:K414E;ENSP00000359264:K414E;ENSP00000359263:K414E;ENSP00000441343:K90E	ENSP00000260502:K414E	K	-	1	0	BCAR3	93820892	0.963000	0.33076	0.539000	0.28077	0.031000	0.12232	2.791000	0.47829	0.838000	0.34948	0.533000	0.62120	AAG		0.627	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			C	94048304	T	C	94048304	3	2	531	1	0	0	0	0	1	0	0	0	1349	1821	63	3	1261	3	BCAR3	1	94048304	Missense_Mutation	SNP	T	TCGA-CJ-4912-01A-01D-1429-08	58468296	94048304	155202317	7	28363											
BCAR3	8412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94048425	94048425	+	Silent	SNP	G	G	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr1:94048425G>T	ENST00000370244.1	-	9	1407	c.1119C>A	c.(1117-1119)gcC>gcA	p.A373A	BCAR3_ENST00000539242.1_Silent_p.A49A|BCAR3_ENST00000370247.3_Silent_p.A282A|BCAR3_ENST00000370243.1_Silent_p.A373A|BCAR3_ENST00000260502.6_Silent_p.A373A|BCAR3_ENST00000466632.1_5'UTR	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	373					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.A373A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTGGGCTCAGGGCAGGCTCGC	0.642																																																1	Substitution - coding silent(1)	kidney(1)											44	45	45					1																	94048425		2203	4300	6503	SO:0001819	synonymous_variant	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1119C>A	1.37:g.94048425G>T			D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	CCDS745.1																																																																																				0.642	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			T	94048425	G	T	94048425	2	4	531	1	0	0	0	0	0	0	0	1	1349	1219	43	4		4	BCAR3	1	94048425	Silent	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	121	94048425	155202196	8	28364											
NOTCH2	4853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120468210	120468210	+	Missense_Mutation	SNP	C	C	T	rs202022988		TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr1:120468210C>T	ENST00000256646.2	-	25	4448	c.4229G>A	c.(4228-4230)cGc>cAc	p.R1410H	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1410	EGF-like 35. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.R1410H(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTTCACAGCGGCTACCCGA	0.647			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	kidney(1)											45	47	47					1																	120468210		2203	4299	6502	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4229G>A	1.37:g.120468210C>T	ENSP00000256646:p.Arg1410His		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	9.092	1.001974	0.19121	.	.	ENSG00000134250	ENST00000256646	T	0.45276	0.9	5.62	-1.0	0.10196	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.382209	0.18794	N	0.130981	T	0.06050	0.0157	N	0.13371	0.34	0.27362	N	0.955934	B	0.02656	0.0	B	0.01281	0.0	T	0.39121	-0.9629	10	0.13108	T	0.6	.	5.1674	0.15092	0.1269:0.3322:0.0:0.5409	.	1410	Q04721	NOTC2_HUMAN	H	1410	ENSP00000256646:R1410H	ENSP00000256646:R1410H	R	-	2	0	NOTCH2	120269733	0.102000	0.21896	0.995000	0.50966	0.903000	0.53119	-0.556000	0.05992	-0.195000	0.10382	-0.268000	0.10319	CGC		0.647	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		T	120468210	C	T	120468210	3	4	531	1	0	0	0	0	1	0	0	0	10550	768	27	1	3226	1	NOTCH2	1	120468210	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	26419785	120468210	128782411	9	28365											
RC3H1	149041	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	173934019	173934019	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr1:173934019A>G	ENST00000367696.2	-	10	1925	c.1574T>C	c.(1573-1575)aTa>aCa	p.I525T	RC3H1_ENST00000367694.2_Missense_Mutation_p.I525T|RC3H1_ENST00000258349.4_Missense_Mutation_p.I525T			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	525					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I525T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CAGATGATCTATTTTTCCTGG	0.423																																																1	Substitution - Missense(1)	kidney(1)											130	120	124					1																	173934019		2203	4300	6503	SO:0001583	missense	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1574T>C	1.37:g.173934019A>G	ENSP00000356669:p.Ile525Thr		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482162	0.44147	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.43688	0.94;0.94;0.94	5.79	3.4	0.38934	.	0.329226	0.43260	N	0.000595	T	0.22513	0.0543	N	0.08118	0	0.30416	N	0.778603	B;B;B;B	0.20459	0.026;0.026;0.045;0.026	B;B;B;B	0.23419	0.02;0.02;0.046;0.02	T	0.12319	-1.0552	10	0.48119	T	0.1	-0.2861	8.1385	0.31069	0.8134:0.0:0.0659:0.1207	.	525;525;525;525	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	T	525	ENSP00000356669:I525T;ENSP00000258349:I525T;ENSP00000356667:I525T	ENSP00000258349:I525T	I	-	2	0	RC3H1	172200642	1.000000	0.71417	0.650000	0.29550	0.979000	0.70002	5.295000	0.65692	0.418000	0.25898	0.528000	0.53228	ATA		0.423	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		G	173934019	A	G	173934019	3	3	531	1	0	0	0	0	1	0	0	0	13172	449	16	3	1871	3	RC3H1	1	173934019	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	53465809	173934019	75316602	10	28366											
RNASEL	6041	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	182544563	182544563	+	Silent	SNP	A	A	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr1:182544563A>G	ENST00000367559.3	-	7	2443	c.2190T>C	c.(2188-2190)gcT>gcC	p.A730A	RNASEL_ENST00000444138.1_Silent_p.A730A	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	730					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.A730A(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TGGCCCCACCAGCTCCATCAC	0.488																																																1	Substitution - coding silent(1)	kidney(1)											150	146	148					1																	182544563		2203	4300	6503	SO:0001819	synonymous_variant	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.2190T>C	1.37:g.182544563A>G			Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	CCDS1347.1																																																																																				0.488	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		G	182544563	A	G	182544563	2	3	531	1	0	0	0	0	0	0	0	1	13422	175	7	3		3	RNASEL	1	182544563	Silent	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	8610544	182544563	66706058	11	28367											
EMILIN1	11117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27307380	27307380	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr2:27307380G>C	ENST00000380320.4	+	5	3037	c.2538G>C	c.(2536-2538)gaG>gaC	p.E846D	KHK_ENST00000260599.6_5'Flank|KHK_ENST00000260598.5_5'Flank	NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	846	Collagen-like.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.E846D(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGGCAAGAGGGCCCCATCG	0.697																																																1	Substitution - Missense(1)	kidney(1)											37	42	41					2																	27307380		2202	4297	6499	SO:0001583	missense	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2538G>C	2.37:g.27307380G>C	ENSP00000369677:p.Glu846Asp		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	CCDS1733.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.822|4.822	0.152888|0.152888	0.09185|0.09185	.|.	.|.	ENSG00000138080|ENSG00000138080	ENST00000380320;ENST00000544143|ENST00000433140	D|.	0.93659|.	-3.26|.	4.82|4.82	-0.329|-0.329	0.12686|0.12686	.|.	1.371810|.	0.04399|.	N|.	0.363820|.	T|T	0.14874|0.14874	0.0359|0.0359	N|N	0.04373|0.04373	-0.215|-0.215	0.21256|0.21256	N|N	0.999745|0.999745	B;B|.	0.19073|.	0.009;0.033|.	B;B|.	0.19391|.	0.025;0.025|.	T|T	0.30995|0.30995	-0.9959|-0.9959	10|5	0.12766|.	T|.	0.61|.	-4.9249|-4.9249	7.7334|7.7334	0.28799|0.28799	0.616:0.0:0.384:0.0|0.616:0.0:0.384:0.0	.|.	177;846|.	Q96IH6;Q9Y6C2|.	.;EMIL1_HUMAN|.	D|T	846;177|177	ENSP00000369677:E846D|.	ENSP00000369677:E846D|.	E|R	+|+	3|2	2|0	EMILIN1|EMILIN1	27160884|27160884	0.502000|0.502000	0.26107|0.26107	0.307000|0.307000	0.25127|0.25127	0.585000|0.585000	0.36419|0.36419	0.754000|0.754000	0.26390|0.26390	0.015000|0.015000	0.14971|0.14971	0.462000|0.462000	0.41574|0.41574	GAG|AGG		0.697	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		C	27307380	G	C	27307380	3	2	531	1	0	0	0	0	1	0	0	0	5095	991	35	4	2556	4	EMILIN1	2	27307380	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08		27307380	215891993	12	28368											
KCNH7	90134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	163236424	163236424	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr2:163236424T>G	ENST00000332142.5	-	14	3169	c.3070A>C	c.(3070-3072)Agc>Cgc	p.S1024R		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1024					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.S1024R(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GTGAGGTCGCTTTCGGTTTCA	0.507																																					GBM(196;1492 2208 17507 24132 45496)											1	Substitution - Missense(1)	kidney(1)											192	180	184					2																	163236424		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3070A>C	2.37:g.163236424T>G	ENSP00000331727:p.Ser1024Arg		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022667	0.54683	.	.	ENSG00000184611	ENST00000332142	D	0.87103	-2.21	5.97	5.97	0.96955	.	0.186437	0.64402	D	0.000017	T	0.77246	0.4102	N	0.19112	0.55	0.80722	D	1	P	0.42409	0.779	B	0.33690	0.168	T	0.78033	-0.2362	10	0.30854	T	0.27	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	1024	Q9NS40	KCNH7_HUMAN	R	1024	ENSP00000331727:S1024R	ENSP00000331727:S1024R	S	-	1	0	KCNH7	162944670	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.707000	0.74654	2.287000	0.76781	0.482000	0.46254	AGC		0.507	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		G	163236424	T	G	163236424	3	3	531	1	0	0	0	0	1	0	0	0	8039	1609	56	5	532	5	KCNH7	2	163236424	Missense_Mutation	SNP	T	TCGA-CJ-4912-01A-01D-1429-08	135929044	163236424	79962949	13	28369											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179427281	179427281	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr2:179427281C>G	ENST00000591111.1	-	276	78879	c.78655G>C	c.(78655-78657)Gtg>Ctg	p.V26219L	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18987L|TTN_ENST00000342992.6_Missense_Mutation_p.V25292L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18920L|TTN_ENST00000460472.2_Missense_Mutation_p.V18795L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V27860L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26219	Fibronectin type-III 90. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V25290L(1)|p.V18920L(1)|p.V18987L(1)|p.V18795L(1)|p.V25292L(1)		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)			GGTTCAGACACTTTAACGGGT	0.438																																																5	Substitution - Missense(5)	kidney(5)											83	80	81					2																	179427281		1859	4098	5957	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78655G>C	2.37:g.179427281C>G	ENSP00000465570:p.Val26219Leu		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	12.91	2.078957	0.36662	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.67	5.67	0.87782	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41396	0.1157	N	0.25380	0.74	0.50632	D	0.999882	B;B;B;B	0.18166	0.026;0.026;0.026;0.026	B;B;B;B	0.18561	0.018;0.018;0.018;0.022	T	0.26224	-1.0109	9	0.87932	D	0	.	19.7469	0.96255	0.0:1.0:0.0:0.0	.	18795;18920;18987;26219	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	25292;18795;18987;18920;18793	ENSP00000343764:V25292L;ENSP00000434586:V18795L;ENSP00000340554:V18987L;ENSP00000352154:V18920L	ENSP00000340554:V18987L	V	-	1	0	TTN	179135527	1.000000	0.71417	0.843000	0.33291	0.908000	0.53690	4.913000	0.63341	2.673000	0.90976	0.561000	0.74099	GTG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179427281	C	G	179427281	3	3	531	1	0	0	0	0	1	0	0	0	16740	565	20	4	24549	4	TTN	2	179427281	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	16190857	179427281	63772092	14	28370											
RNPEPL1	57140	broad.mit.edu	37	2	241514017	241514017	+	Silent	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr2:241514017C>T	ENST00000270357.4	+	6	1160	c.567C>T	c.(565-567)gtC>gtT	p.V189V		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	189					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V189V(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ACAGCCCGGTCAGCAAACTGC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											44	51	49					2																	241514017		2201	4300	6501	SO:0001819	synonymous_variant	57140					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.567C>T	2.37:g.241514017C>T			Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Silent	SNP	ENST00000270357.4	37																																																																																					0.647	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		T	241514017	C	T	241514017	2	4	531	1	0	0	0	0	0	0	0	1	13516	813	29	2		2	RNPEPL1	2	241514017	Silent	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	62086736	241514017	1685356	15	28371											
CAMK1	8536	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9809372	9809383	+	In_Frame_Del	DEL	TCGTAGATGTCT	TCGTAGATGTCT	-	rs372987743		TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	TCGTAGATGTCT	TCGTAGATGTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr3:9809372_9809383delTCGTAGATGTCT	ENST00000256460.3	-	2	228_239	c.51_62delAGACATCTACGA	c.(49-63)agagacatctacgac>agc	p.17_21RDIYD>S		NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	17	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		ATCTCGGAAGTCGTAGATGTCTCTAATGTCCT	0.608																																																0																																										SO:0001651	inframe_deletion	8536			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.51_62delAGACATCTACGA	3.37:g.9809372_9809383delTCGTAGATGTCT	ENSP00000256460:p.Arg17_Asp21delinsSer		Q3KPF6	In_Frame_Del	DEL	ENST00000256460.3	37	CCDS2582.1																																																																																				0.608	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		-	9809383	TCGTAGATGTCT	-	9809372	7	5	531	1	0	1	0	1	0	0	0	0	2598	1667	58	0	1094	0	CAMK1	3	9809372	In_Frame_Del	DEL	TCGTAGATGTCT	TCGA-CJ-4912-01A-01D-1429-08		9809372	188213058	16	28372											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188204	10188204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr3:10188204delT	ENST00000256474.2	+	2	1187	c.347delT	c.(346-348)cttfs	p.L116fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)|p.W117fs*14(2)|p.H115fs*15(1)|p.W117fs*42(1)|p.H115fs*41(1)|p.H115fs*42(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATAGGTCACCTTTGGCTCTTC	0.527		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Deletion - Frameshift(6)|Unknown(2)	kidney(8)											173	161	165					3																	10188204		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.347delT	3.37:g.10188204delT	ENSP00000256474:p.Leu116fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188204	T	-	10188204	7	5	531	1	0	1	0	1	0	0	0	0	17167	1609	56	0	353	0	VHL	3	10188204	Frame_Shift_Del	DEL	T	TCGA-CJ-4912-01A-01D-1429-08	378832	10188204	187834226	17	28373											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52621512	52621515	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	ACAA	ACAA	ACAA	-	ACAA	ACAA	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr3:52621512_52621515delACAA	ENST00000296302.7	-	19	2978_2981	c.2977_2980delTTGT	c.(2977-2982)ttgtatfs	p.LY993fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.LY961fs|PBRM1_ENST00000410007.1_Intron|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.LY1008fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.LY993fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.LY1008fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.LY993fs|PBRM1_ENST00000394830.3_Intron			Q86U86	PB1_HUMAN	polybromo 1	993	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAACAGCCATACAACCATTTTTCA	0.348			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2977_2980delTTGT	3.37:g.52621512_52621515delACAA	ENSP00000296302:p.Leu993fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.348	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52621515	ACAA	-	52621512	7	5	531	1	0	1	0	1	0	0	0	0	11493	391	14	0	1968	0	PBRM1	3	52621512	Frame_Shift_Del	DEL	ACAA	TCGA-CJ-4912-01A-01D-1429-08	42433308	52621512	145400918	18	28374											
FAM19A4	151647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	68802104	68802104	+	Missense_Mutation	SNP	G	G	A	rs267599929		TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr3:68802104G>A	ENST00000295569.7	-	4	688	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	66						extracellular region (GO:0005576)		p.R66C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCTTCTATGCGGTTCTTATTG	0.542																																																1	Substitution - Missense(1)	kidney(1)											96	83	87					3																	68802104		2203	4300	6503	SO:0001583	missense	151647			AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.196C>T	3.37:g.68802104G>A	ENSP00000295569:p.Arg66Cys		A8MVT2	Missense_Mutation	SNP	ENST00000295569.7	37	CCDS2907.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099444	0.76983	.	.	ENSG00000163377	ENST00000295569;ENST00000495737	.	.	.	5.46	3.47	0.39725	.	0.106099	0.64402	D	0.000011	T	0.74891	0.3776	M	0.65975	2.015	0.39001	D	0.959341	D	0.71674	0.998	D	0.67900	0.954	T	0.80044	-0.1547	9	0.87932	D	0	-21.4951	13.6823	0.62493	0.0:0.0:0.5718:0.4282	.	66	Q96LR4	F19A4_HUMAN	C	66	.	ENSP00000295569:R66C	R	-	1	0	FAM19A4	68884794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.973000	0.56845	1.285000	0.44548	0.591000	0.81541	CGC		0.542	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1	NM_182522		A	68802104	G	A	68802104	3	1	531	1	0	0	0	0	1	0	0	0	5536	1116	39	1	238	1	FAM19A4	3	68802104	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	16180592	68802104	129220326	19	28375											
IL12A	3592	broad.mit.edu	37	3	159706882	159706882	+	Silent	SNP	A	A	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr3:159706882A>C	ENST00000305579.2	+	1	346	c.39A>C	c.(37-39)tcA>tcC	p.S13S	IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Silent_p.S13S|IL12A_ENST00000480787.1_Silent_p.S13S	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	0					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)	p.S13S(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CACCGCCCTCACCTGCCGCGG	0.652											OREG0015908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											17	22	20					3																	159706882		2202	4298	6500	SO:0001819	synonymous_variant	0			M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"Interleukins and interleukin receptors"	5969	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor 1, 35 kD subunit", "cytotoxic lymphocyte maturation factor 1, p35", "interleukin 12, p35", "IL-12, subunit p35", "NF cell stimulatory factor chain 1", "interleukin-12 alpha chain", "IL35 subunit"	161560	"interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.39A>C	3.37:g.159706882A>C		1803	Q96QZ1	Splice_Site	SNP	ENST00000305579.2	37	CCDS3187.1																																																																																				0.652	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882		C	159706882	A	C	159706882	2	2	531	1	0	0	0	0	0	0	0	1	7626	146	6	5		5	IL12A	3	159706882	Silent	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	90904778	159706882	38315548	20	28376											
TNIK	23043	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170893117	170893117	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr3:170893117G>A	ENST00000436636.2	-	9	1041	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F	TNIK_ENST00000284483.8_Missense_Mutation_p.L233F|TNIK_ENST00000369326.5_Missense_Mutation_p.L233F|TNIK_ENST00000475336.1_Missense_Mutation_p.L233F|TNIK_ENST00000460047.1_Missense_Mutation_p.L233F|TNIK_ENST00000470834.1_Missense_Mutation_p.L233F|TNIK_ENST00000357327.5_Missense_Mutation_p.L233F|TNIK_ENST00000488470.1_Missense_Mutation_p.L233F|TNIK_ENST00000341852.6_Missense_Mutation_p.L233F|TNIK_ENST00000538048.1_Missense_Mutation_p.L233F	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L233F(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATGTCACAGAGAGCTGCAAGA	0.557																																																2	Substitution - Missense(2)	kidney(2)											59	60	60					3																	170893117		1961	4168	6129	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.697C>T	3.37:g.170893117G>A	ENSP00000399511:p.Leu233Phe		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642131	0.87859	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	T;T;T;T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;3.1	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067323	0.64402	D	0.000009	T	0.25005	0.0607	N	0.08118	0	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;0.997;0.997;1.0;0.998	D;D;D;D;D;D;D;D	0.79108	0.967;0.983;0.992;0.955;0.983;0.983;0.992;0.99	T	0.37478	-0.9704	10	0.87932	D	0	.	18.7037	0.91630	0.0:0.0:1.0:0.0	.	233;233;233;233;233;233;233;233	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	F	233;233;233;233;233;233;233;233;233;233;207	ENSP00000399511:L233F;ENSP00000358332:L233F;ENSP00000443278:L233F;ENSP00000345352:L233F;ENSP00000284483:L233F;ENSP00000418156:L233F;ENSP00000349880:L233F;ENSP00000418916:L233F;ENSP00000418378:L233F;ENSP00000419990:L233F;ENSP00000417338:L207F	ENSP00000284483:L233F	L	-	1	0	TNIK	172375811	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.827000	0.86722	2.642000	0.89623	0.655000	0.94253	CTC		0.557	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		A	170893117	G	A	170893117	3	1	531	1	0	0	0	0	1	0	0	0	16318	942	33	2	3485	2	TNIK	3	170893117	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	11186235	170893117	27129313	21	28377											
LRRC33	375387	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196387275	196387275	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr3:196387275C>T	ENST00000328557.4	+	3	964	c.761C>T	c.(760-762)aCg>aTg	p.T254M		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	254					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T254M(1)									GAGCTGGAGACGCTGGACCTG	0.632																																																1	Substitution - Missense(1)	kidney(1)											71	72	72					3																	196387275		2203	4300	6503	SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.761C>T	3.37:g.196387275C>T	ENSP00000328625:p.Thr254Met			Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	6.210	0.406983	0.11754	.	.	ENSG00000174004	ENST00000328557	T	0.01034	5.42	5.95	-0.893	0.10567	.	0.540943	0.21192	N	0.078628	T	0.01287	0.0042	L	0.61218	1.895	0.24949	N	0.991804	B	0.26775	0.159	B	0.20955	0.032	T	0.39921	-0.9590	10	0.30854	T	0.27	.	12.5769	0.56369	0.0:0.3686:0.0:0.6314	.	254	Q86YC3	LRC33_HUMAN	M	254	ENSP00000328625:T254M	ENSP00000328625:T254M	T	+	2	0	LRRC33	197871672	0.005000	0.15991	0.034000	0.17996	0.754000	0.42855	0.186000	0.16978	-0.508000	0.06540	-0.137000	0.14449	ACG		0.632	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		T	196387275	C	T	196387275	3	4	531	1	0	0	0	0	1	0	0	0	8990	536	19	1	767	1	LRRC33	3	196387275	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	25494158	196387275	1635155	22	28378											
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85664902	85664902	+	Silent	SNP	G	G	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr4:85664902G>A	ENST00000295888.4	-	37	6431	c.6024C>T	c.(6022-6024)taC>taT	p.Y2008Y	WDFY3_ENST00000322366.6_Silent_p.Y2008Y	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2008					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.Y2008Y(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TATCCAAAATGTAAGTTTGAA	0.318																																																1	Substitution - coding silent(1)	kidney(1)											99	99	99					4																	85664902		2203	4300	6503	SO:0001819	synonymous_variant	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6024C>T	4.37:g.85664902G>A			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	CCDS3609.1																																																																																				0.318	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		A	85664902	G	A	85664902	2	1	531	1	0	0	0	0	0	0	0	1	17275	1372	48	2		2	WDFY3	4	85664902	Silent	SNP	G	TCGA-CJ-4912-01A-01D-1429-08		85664902	105489374	23	28379											
BANK1	55024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	102751087	102751087	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr4:102751087T>A	ENST00000322953.4	+	2	467	c.193T>A	c.(193-195)Ttc>Atc	p.F65I	BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.F35I|BANK1_ENST00000504592.1_Missense_Mutation_p.F50I|BANK1_ENST00000428908.1_Intron	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	65	Interaction with ITPR2.				B cell activation (GO:0042113)			p.F65I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTTGGAGAATTTCTCTTTTCG	0.368																																																1	Substitution - Missense(1)	kidney(1)											80	82	81					4																	102751087		2203	4300	6503	SO:0001583	missense	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.193T>A	4.37:g.102751087T>A	ENSP00000320509:p.Phe65Ile		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	T	9.538	1.112733	0.20795	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.08720	3.06;3.06;3.06	5.18	3.92	0.45320	.	0.824242	0.10599	N	0.655823	T	0.06371	0.0164	L	0.33485	1.01	0.09310	N	1	P;P	0.37276	0.589;0.589	B;B	0.30316	0.114;0.114	T	0.28073	-1.0055	10	0.23302	T	0.38	.	10.2487	0.43356	0.0:0.0:0.3029:0.697	.	65;50	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	I	50;65;35	ENSP00000421443:F50I;ENSP00000320509:F65I;ENSP00000388817:F35I	ENSP00000320509:F65I	F	+	1	0	BANK1	102970110	0.000000	0.05858	0.089000	0.20774	0.797000	0.45037	0.458000	0.21892	1.950000	0.56595	0.528000	0.53228	TTC		0.368	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		A	102751087	T	A	102751087	3	1	531	1	0	0	0	0	1	0	0	0	1309	1841	64	5	199	5	BANK1	4	102751087	Missense_Mutation	SNP	T	TCGA-CJ-4912-01A-01D-1429-08	17086185	102751087	88403189	24	28380											
BDH2	56898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	104000886	104000886	+	Silent	SNP	G	G	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr4:104000886G>T	ENST00000296424.4	-	10	831	c.711C>A	c.(709-711)gtC>gtA	p.V237V	SLC9B2_ENST00000503230.1_5'Flank|SLC9B2_ENST00000394785.3_5'Flank|SLC9B2_ENST00000339611.4_5'Flank	NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	237					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.V237V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CATCAATGATGACAGGGTTAC	0.443																																																1	Substitution - coding silent(1)	kidney(1)											130	113	119					4																	104000886		2203	4300	6503	SO:0001819	synonymous_variant	56898			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	32389	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 15C, member 1"		"dehydrogenase/reductase (SDR family) member 6"	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.711C>A	4.37:g.104000886G>T			A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Silent	SNP	ENST00000296424.4	37	CCDS3663.1																																																																																				0.443	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139		T	104000886	G	T	104000886	2	4	531	1	0	0	0	0	0	0	0	1	1391	1277	45	4		4	BDH2	4	104000886	Silent	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	1249799	104000886	87153390	25	28381											
MYO10	4651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	16711272	16711272	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr5:16711272G>C	ENST00000513610.1	-	20	2466	c.2012C>G	c.(2011-2013)gCt>gGt	p.A671G	MYO10_ENST00000505695.1_Missense_Mutation_p.A10G|MYO10_ENST00000427430.2_Missense_Mutation_p.A28G|MYO10_ENST00000274203.9_Missense_Mutation_p.A28G|MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000515803.1_Missense_Mutation_p.A10G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	671	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.A671G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGCATACCCAGCTTTGCGGAT	0.488																																																1	Substitution - Missense(1)	kidney(1)											43	44	44					5																	16711272		1872	4120	5992	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2012C>G	5.37:g.16711272G>C	ENSP00000421280:p.Ala671Gly		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790112	0.90367	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430;ENST00000513882	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.26	5.26	0.73747	Myosin head, motor domain (2);	.	.	.	.	D	0.94948	0.8366	M	0.90542	3.125	0.49798	D	0.999827	P;D	0.54207	0.896;0.965	B;P	0.58820	0.334;0.846	D	0.95547	0.8617	9	0.62326	D	0.03	.	18.8714	0.92317	0.0:0.0:1.0:0.0	.	312;671	Q69YP8;Q9HD67	.;MYO10_HUMAN	G	671;10;28;10;28;682	ENSP00000421280:A671G;ENSP00000425051:A10G;ENSP00000274203:A28G;ENSP00000421170:A10G;ENSP00000391106:A28G;ENSP00000421309:A682G	ENSP00000274203:A28G	A	-	2	0	MYO10	16764272	1.000000	0.71417	0.397000	0.26308	0.989000	0.77384	6.639000	0.74314	2.447000	0.82792	0.462000	0.41574	GCT		0.488	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		C	16711272	G	C	16711272	3	2	531	1	0	0	0	0	1	0	0	0	10064	971	34	4	4252	4	MYO10	5	16711272	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08		16711272	164203988	26	28382											
HEATR7B2	133558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	41065513	41065513	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr5:41065513T>G	ENST00000399564.4	-	4	731	c.281A>C	c.(280-282)gAa>gCa	p.E94A		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	94								p.E94A(1)									ACTTTGTACTTCATACATCAC	0.428																																																1	Substitution - Missense(1)	kidney(1)											88	82	84					5																	41065513		1924	4143	6067	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.281A>C	5.37:g.41065513T>G	ENSP00000382476:p.Glu94Ala		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428356	0.83667	.	.	ENSG00000171495	ENST00000399564	T	0.08193	3.12	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.64402	D	0.000012	T	0.28234	0.0697	M	0.73962	2.25	0.37081	D	0.899008	D	0.71674	0.998	D	0.81914	0.995	T	0.09443	-1.0674	10	0.48119	T	0.1	.	13.1979	0.59749	0.0:0.0:0.0:1.0	.	94	Q7Z745	HTRB2_HUMAN	A	94	ENSP00000382476:E94A	ENSP00000382476:E94A	E	-	2	0	HEATR7B2	41101270	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.868000	0.56055	2.367000	0.80283	0.528000	0.53228	GAA		0.428	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		G	41065513	T	G	41065513	3	3	531	1	0	0	0	0	1	0	0	0	7037	1783	62	5	4632	5	HEATR7B2	5	41065513	Missense_Mutation	SNP	T	TCGA-CJ-4912-01A-01D-1429-08	24354241	41065513	139849747	27	28383											
IPO11	51194	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	61779118	61779118	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr5:61779118A>C	ENST00000325324.6	+	10	1188	c.1019A>C	c.(1018-1020)gAa>gCa	p.E340A	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.E380A	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	340					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.E340A(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AAAAATTTTGAAGGTAATTCC	0.264																																																1	Substitution - Missense(1)	kidney(1)											35	35	35					5																	61779118		2201	4288	6489	SO:0001583	missense	51194			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1019A>C	5.37:g.61779118A>C	ENSP00000316651:p.Glu340Ala		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221335	0.58560	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.25414	1.81;1.8	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.137970	0.64402	D	0.000003	T	0.26557	0.0649	L	0.51914	1.62	0.80722	D	1	B;B	0.22909	0.077;0.026	B;B	0.17722	0.019;0.014	T	0.02588	-1.1137	10	0.40728	T	0.16	.	15.6779	0.77341	1.0:0.0:0.0:0.0	.	380;340	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	A	340;380	ENSP00000316651:E340A;ENSP00000386992:E380A	ENSP00000316651:E340A	E	+	2	0	IPO11	61814875	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.595000	0.90840	2.153000	0.67306	0.528000	0.53228	GAA		0.264	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		C	61779118	A	C	61779118	3	2	531	1	0	0	0	0	1	0	0	0	7795	246	9	5	1177	5	IPO11	5	61779118	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	20713605	61779118	119136142	28	28384											
MCCC2	64087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	70945080	70945080	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr5:70945080G>A	ENST00000340941.6	+	14	1502	c.1373G>A	c.(1372-1374)aGc>aAc	p.S458N	MCCC2_ENST00000323375.8_Splice_Site_p.S420N	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	458	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.S458N(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGAGCATATAGGTAGGTGTCA	0.438																																																1	Substitution - Missense(1)	kidney(1)											75	74	74					5																	70945080		2203	4300	6503	SO:0001630	splice_region_variant	64087			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1373+1G>A	5.37:g.70945080G>A			A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339590	0.41398	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.97642	-3.14;-3.14;-4.47	5.35	3.44	0.39384	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.185450	0.56097	D	0.000027	D	0.95723	0.8609	L	0.58669	1.825	0.80722	D	1	B	0.27498	0.18	B	0.37451	0.25	D	0.94362	0.7588	10	0.56958	D	0.05	-17.9784	10.0559	0.42244	0.0868:0.1517:0.7616:0.0	.	458	Q9HCC0	MCCB_HUMAN	N	458;420;230	ENSP00000343657:S458N;ENSP00000327308:S420N;ENSP00000425474:S230N	ENSP00000327308:S420N	S	+	2	0	MCCC2	70980836	1.000000	0.71417	0.113000	0.21522	0.038000	0.13279	7.919000	0.87513	1.258000	0.44101	0.650000	0.86243	AGC		0.438	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4		Missense_Mutation	A	70945080	G	A	70945080	5	1	531	1	0	0	0	0	0	0	1	0	9377	1014	35	2	1427	2	MCCC2	5	70945080	Splice_Site	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	9165962	70945080	109970180	29	28385											
RAD50	10111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131930637	131930637	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr5:131930637A>G	ENST00000265335.6	+	12	2257	c.1870A>G	c.(1870-1872)Agt>Ggt	p.S624G	RAD50_ENST00000378823.3_Missense_Mutation_p.S485G			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	624					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.S624G(1)|p.S485G(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGTTGTCCAGTTACGAAGA	0.343								Homologous recombination																																								2	Substitution - Missense(2)	kidney(2)											91	99	97					5																	131930637		2203	4300	6503	SO:0001583	missense	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1870A>G	5.37:g.131930637A>G	ENSP00000265335:p.Ser624Gly		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787586	0.31593	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.07567	3.44;3.67;3.18	5.94	3.4	0.38934	.	0.463989	0.27604	N	0.018628	T	0.07548	0.0190	L	0.44542	1.39	0.28454	N	0.916225	B	0.12013	0.005	B	0.10450	0.005	T	0.15867	-1.0422	10	0.37606	T	0.19	-1.6671	7.3651	0.26768	0.6173:0.1314:0.0:0.2514	.	624	Q92878	RAD50_HUMAN	G	485;624;563	ENSP00000368100:S485G;ENSP00000265335:S624G;ENSP00000400049:S563G	ENSP00000265335:S624G	S	+	1	0	RAD50	131958536	0.011000	0.17503	0.882000	0.34594	0.979000	0.70002	1.318000	0.33643	1.039000	0.40074	0.459000	0.35465	AGT		0.343	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		G	131930637	A	G	131930637	3	3	531	1	0	0	0	0	1	0	0	0	12990	188	7	3	1916	3	RAD50	5	131930637	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	60985557	131930637	48984623	30	28386											
ADRB2	154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	148207220	148207220	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr5:148207220G>C	ENST00000305988.4	+	1	1065	c.826G>C	c.(826-828)Ggc>Cgc	p.G276R		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	276					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.G276R(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	CAAGACGTTAGGCATCATCAT	0.522																																																1	Substitution - Missense(1)	kidney(1)											114	103	106					5																	148207220		2203	4300	6503	SO:0001583	missense	154			AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.826G>C	5.37:g.148207220G>C	ENSP00000305372:p.Gly276Arg		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156769	0.78114	.	.	ENSG00000169252	ENST00000305988	T	0.37752	1.18	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86737	0.1952	10	0.87932	D	0	.	19.1566	0.93514	0.0:0.0:1.0:0.0	.	276	P07550	ADRB2_HUMAN	R	276	ENSP00000305372:G276R	ENSP00000305372:G276R	G	+	1	0	ADRB2	148187413	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	9.625000	0.98406	2.763000	0.94921	0.561000	0.74099	GGC		0.522	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		C	148207220	G	C	148207220	3	2	531	1	0	0	0	0	1	0	0	0	341	1000	35	4	828	4	ADRB2	5	148207220	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	16276583	148207220	32708040	31	28387											
NSD1	64324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176562309	176562309	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr5:176562309T>C	ENST00000439151.2	+	2	250	c.205T>C	c.(205-207)Tac>Cac	p.Y69H	NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.Y69H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	69					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Y69H(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCCATCTTGTTACATTCCACT	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - Missense(2)	kidney(2)											102	92	95					5																	176562309		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.205T>C	5.37:g.176562309T>C	ENSP00000395929:p.Tyr69His		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361243	0.61403	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.97016	-3.74;-4.21	5.23	5.23	0.72850	.	0.138480	0.33631	N	0.004702	D	0.94958	0.8369	N	0.08118	0	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.99	D;P;P	0.69142	0.962;0.855;0.836	D	0.96347	0.9255	10	0.87932	D	0	.	14.2571	0.66060	0.0:0.0:0.0:1.0	.	69;69;69	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	H	69	ENSP00000395929:Y69H;ENSP00000354310:Y69H	ENSP00000354310:Y69H	Y	+	1	0	NSD1	176494915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.586000	0.60984	2.197000	0.70478	0.454000	0.30748	TAC		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		C	176562309	T	C	176562309	3	2	531	1	0	0	0	0	1	0	0	0	10671	1754	61	3	207	3	NSD1	5	176562309	Missense_Mutation	SNP	T	TCGA-CJ-4912-01A-01D-1429-08	28355089	176562309	4352951	32	28388											
RMND5B	64777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	177574549	177574549	+	Frame_Shift_Del	DEL	T	T	-	rs375864830		TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr5:177574549delT	ENST00000515098.1	+	10	1227	c.876delT	c.(874-876)tgtfs	p.C292fs	RMND5B_ENST00000542098.1_Frame_Shift_Del_p.C279fs|RMND5B_ENST00000313386.4_Frame_Shift_Del_p.C292fs			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	292										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCTGGCTGTGTGGCGCTGC	0.582																																																0													88	75	80					5																	177574549		2203	4300	6503	SO:0001589	frameshift_variant	64777			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.876delT	5.37:g.177574549delT	ENSP00000420875:p.Cys292fs		Q1HE27|Q6UVY7|Q9H6F6	Frame_Shift_Del	DEL	ENST00000515098.1	37	CCDS4431.1																																																																																				0.582	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		-	177574549	T	-	177574549	7	5	531	1	0	1	0	1	0	0	0	0	13404	1702	59	0	902	0	RMND5B	5	177574549	Frame_Shift_Del	DEL	T	TCGA-CJ-4912-01A-01D-1429-08	1012240	177574549	3340711	33	28389											
SYCP2L	221711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10907856	10907856	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr6:10907856G>C	ENST00000283141.6	+	10	1054	c.758G>C	c.(757-759)tGg>tCg	p.W253S	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.W94S	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	253						nucleus (GO:0005634)		p.W253S(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GTCCATAAATGGTTTGATGAT	0.373																																																1	Substitution - Missense(1)	kidney(1)											128	124	125					6																	10907856		1840	4094	5934	SO:0001583	missense	221711			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.758G>C	6.37:g.10907856G>C	ENSP00000283141:p.Trp253Ser		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832688	0.50845	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.56103	0.48;1.66	5.48	4.58	0.56647	.	0.000000	0.64402	D	0.000002	T	0.69351	0.3101	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.74438	-0.3665	10	0.87932	D	0	.	15.3324	0.74223	0.0:0.0:0.8598:0.1402	.	94;253	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	S	94;253	ENSP00000440676:W94S;ENSP00000283141:W253S	ENSP00000283141:W253S	W	+	2	0	SYCP2L	11015842	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	4.692000	0.61746	2.563000	0.86464	0.655000	0.94253	TGG		0.373	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		C	10907856	G	C	10907856	3	2	531	1	0	0	0	0	1	0	0	0	15438	1357	47	4	796	4	SYCP2L	6	10907856	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08		10907856	160207211	34	28390											
FAM83B	222584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	54805594	54805594	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr6:54805594C>T	ENST00000306858.7	+	5	1941	c.1825C>T	c.(1825-1827)Cca>Tca	p.P609S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	609								p.P609S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTCAGAGGCACCAAAAATGCA	0.433																																																1	Substitution - Missense(1)	kidney(1)											53	51	52					6																	54805594		2199	4292	6491	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1825C>T	6.37:g.54805594C>T	ENSP00000304078:p.Pro609Ser		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.992976	0.02162	.	.	ENSG00000168143	ENST00000306858	T	0.26067	1.76	5.55	2.51	0.30379	.	2.366650	0.01361	N	0.012222	T	0.07052	0.0179	L	0.35723	1.085	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.17048	-1.0382	10	0.21014	T	0.42	-6.6606	5.0431	0.14469	0.1357:0.5328:0.0:0.3315	.	609	Q5T0W9	FA83B_HUMAN	S	609	ENSP00000304078:P609S	ENSP00000304078:P609S	P	+	1	0	FAM83B	54913553	0.000000	0.05858	0.021000	0.16686	0.131000	0.20780	0.088000	0.14979	0.683000	0.31428	-0.345000	0.07892	CCA		0.433	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		T	54805594	C	T	54805594	3	4	531	1	0	0	0	0	1	0	0	0	5636	507	18	2	1839	2	FAM83B	6	54805594	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	43897738	54805594	116309473	35	28391											
ZNF292	23036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	87969169	87969169	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr6:87969169A>C	ENST00000369577.3	+	8	5865	c.5822A>C	c.(5821-5823)cAa>cCa	p.Q1941P	ZNF292_ENST00000339907.4_Missense_Mutation_p.Q1936P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1941						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Q1941P(2)|p.Q1796P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGAAGAATCAATTGAAATTT	0.348																																																4	Substitution - Missense(4)	endometrium(2)|kidney(2)											22	22	22					6																	87969169		1827	4061	5888	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5822A>C	6.37:g.87969169A>C	ENSP00000358590:p.Gln1941Pro		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.295553	0.40594	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.09723	2.95;2.96	6.11	6.11	0.99139	.	0.050165	0.85682	D	0.000000	T	0.11665	0.0284	N	0.11789	0.175	0.50813	D	0.999892	D	0.71674	0.998	D	0.75484	0.986	T	0.31364	-0.9946	10	0.72032	D	0.01	.	16.7021	0.85357	1.0:0.0:0.0:0.0	.	1941	O60281	ZN292_HUMAN	P	1941;1936	ENSP00000358590:Q1941P;ENSP00000342847:Q1936P	ENSP00000342847:Q1936P	Q	+	2	0	ZNF292	88025888	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.060000	0.64312	2.343000	0.79666	0.533000	0.62120	CAA		0.348	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		C	87969169	A	C	87969169	3	2	531	1	0	0	0	0	1	0	0	0	17831	130	5	5	5852	5	ZNF292	6	87969169	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	33163575	87969169	83145898	36	28392											
AKAP7	9465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	131540937	131540937	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr6:131540937C>A	ENST00000431975.2	+	7	937	c.839C>A	c.(838-840)tCc>tAc	p.S280Y	AKAP7_ENST00000263050.3_Missense_Mutation_p.S16Y|AKAP7_ENST00000541650.1_Missense_Mutation_p.S279Y|AKAP7_ENST00000537868.1_Missense_Mutation_p.S16Y|AKAP7_ENST00000368123.4_Missense_Mutation_p.S258Y	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	280						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.S258Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGTGAATCTTCCATTGTGATT	0.269																																																1	Substitution - Missense(1)	kidney(1)											79	81	80					6																	131540937		2202	4299	6501	SO:0001583	missense	9465			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.839C>A	6.37:g.131540937C>A	ENSP00000405252:p.Ser280Tyr		B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161866	0.78226	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123;ENST00000537868;ENST00000263050	T;T;T	0.67865	-0.29;-0.29;-0.29	5.77	5.77	0.91146	Protein kinase A anchor protein, RI-RII subunit-binding domain (1);	0.000000	0.64402	D	0.000002	T	0.68201	0.2975	L	0.27053	0.805	0.49389	D	0.999781	D;D	0.89917	1.0;1.0	D;D	0.81914	0.986;0.995	T	0.72814	-0.4179	10	0.87932	D	0	-6.6163	17.4919	0.87707	0.0:1.0:0.0:0.0	.	279;280	F5GXD1;Q9P0M2	.;AKA7G_HUMAN	Y	280;279;258;16;16	ENSP00000405252:S280Y;ENSP00000441048:S279Y;ENSP00000357105:S258Y	ENSP00000263050:S16Y	S	+	2	0	AKAP7	131582630	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	5.302000	0.65733	2.729000	0.93468	0.655000	0.94253	TCC		0.269	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		A	131540937	C	A	131540937	3	1	531	1	0	0	0	0	1	0	0	0	456	855	30	4	795	4	AKAP7	6	131540937	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	43571768	131540937	39574130	37	28393											
FAM54A	113115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	136562720	136562720	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr6:136562720C>G	ENST00000420702.1	-	5	765	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	MTFR2_ENST00000451457.2_Missense_Mutation_p.E126Q	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	126					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)		p.E126Q(1)									TTCACAGTTTCTTTCTGTCTT	0.393																																																1	Substitution - Missense(1)	kidney(1)											109	101	104					6																	136562720		2203	4300	6503	SO:0001583	missense	0			BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"DUF729 domain containing 1", "family with sequence similarity 54, member A"	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.376G>C	6.37:g.136562720C>G	ENSP00000395232:p.Glu126Gln		A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	C	6.664	0.491122	0.12702	.	.	ENSG00000146410	ENST00000451457;ENST00000420702;ENST00000418509	T;T;T	0.51071	0.72;0.72;0.72	5.59	1.75	0.24633	.	0.646411	0.16608	N	0.207006	T	0.13243	0.0321	L	0.35542	1.07	0.09310	N	1	B	0.18013	0.025	B	0.22152	0.038	T	0.31971	-0.9924	10	0.16896	T	0.51	-4.9149	7.2146	0.25953	0.0:0.4223:0.0:0.5777	.	126	Q6P444	FA54A_HUMAN	Q	126;126;83	ENSP00000407010:E126Q;ENSP00000395232:E126Q;ENSP00000410861:E83Q	ENSP00000410861:E83Q	E	-	1	0	FAM54A	136604413	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.502000	0.22594	0.412000	0.25729	-0.672000	0.03802	GAA		0.393	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		G	136562720	C	G	136562720	3	3	531	1	0	0	0	0	1	0	0	0	5584	922	32	4	797	4	FAM54A	6	136562720	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	5021783	136562720	34552347	38	28394											
IGF2R	3482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160471666	160471666	+	Silent	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr6:160471666C>T	ENST00000356956.1	+	19	2824	c.2676C>T	c.(2674-2676)gtC>gtT	p.V892V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	892					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.V892V(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TCCATCTCGTCTGCTCCAGGG	0.557																																																1	Substitution - coding silent(1)	kidney(1)											59	50	53					6																	160471666		2203	4300	6503	SO:0001819	synonymous_variant	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2676C>T	6.37:g.160471666C>T			Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	CCDS5273.1																																																																																				0.557	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		T	160471666	C	T	160471666	2	4	531	1	0	0	0	0	0	0	0	1	7578	900	32	2		2	IGF2R	6	160471666	Silent	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	23908946	160471666	10643401	39	28395											
ZNF713	349075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	56007482	56007482	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr7:56007482G>A	ENST00000429591.2	+	4	1114	c.1076G>A	c.(1075-1077)tGt>tAt	p.C359Y	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C359Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTTACGAATGTGGTTTCTGT	0.403																																																1	Substitution - Missense(1)	kidney(1)											68	70	69					7																	56007482		2203	4300	6503	SO:0001583	missense	349075			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1076G>A	7.37:g.56007482G>A	ENSP00000416662:p.Cys359Tyr			Missense_Mutation	SNP	ENST00000429591.2	37	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128679	0.56721	.	.	ENSG00000178665	ENST00000429591	D	0.85088	-1.94	3.26	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.169754	0.28700	N	0.014426	D	0.94604	0.8261	H	0.97682	4.055	0.49389	D	0.999783	D	0.89917	1.0	D	0.97110	1.0	D	0.95695	0.8744	10	0.87932	D	0	.	12.8046	0.57605	0.0:0.0:1.0:0.0	.	359	Q8N859	ZN713_HUMAN	Y	359	ENSP00000416662:C359Y	ENSP00000416662:C359Y	C	+	2	0	ZNF713	55974976	1.000000	0.71417	0.912000	0.35992	0.685000	0.39939	8.997000	0.93544	2.129000	0.65627	0.467000	0.42956	TGT		0.403	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		A	56007482	G	A	56007482	3	1	531	1	0	0	0	0	1	0	0	0	18122	1377	48	2	1090	2	ZNF713	7	56007482	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08		56007482	103131181	40	28396											
GTF2I	2969	hgsc.bcm.edu	37	7	74149837	74149840	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	AAGA	AAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr7:74149837_74149840delAAGA	ENST00000324896.4	+	17	1787_1790	c.1398_1401delAAGA	c.(1396-1401)ttaagafs	p.LR466fs	GTF2I_ENST00000346152.4_Frame_Shift_Del_p.LR445fs|GTF2I_ENST00000353920.4_Frame_Shift_Del_p.LR446fs|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.LR425fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	466					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TCACTAAATTAAGAAAGATGGTGG	0.275																																																0									,,,,	4,1578		1,2,788					,,,,	4.4	0.1			2	20,2954		3,14,1470	no	frameshift,frameshift,frameshift,frameshift,frameshift	GTF2I	NM_033001.2,NM_033000.2,NM_032999.2,NM_001518.3,NM_001163636.1	,,,,	4,16,2258	A1A1,A1R,RR		0.6725,0.2528,0.5268	,,,,	,,,,		24,4532				SO:0001589	frameshift_variant	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1398_1401delAAGA	7.37:g.74149841_74149844delAAGA	ENSP00000322542:p.Leu466fs		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Frame_Shift_Del	DEL	ENST00000324896.4	37	CCDS5573.1																																																																																				0.275	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		-	74149840	AAGA	-	74149837	7	5	531	1	0	1	0	1	0	0	0	0	6869	359	13	0	1460	0	GTF2I	7	74149837	Frame_Shift_Del	DEL	AAGA	TCGA-CJ-4912-01A-01D-1429-08	18142355	74149837	84988826	41	28397											
COL1A2	1278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94050324	94050324	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr7:94050324C>A	ENST00000297268.6	+	38	2770	c.2299C>A	c.(2299-2301)Cca>Aca	p.P767T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	767			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.P767T(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CATTTAGGGTCCAAATGGTCC	0.443										HNSCC(75;0.22)																																						1	Substitution - Missense(1)	kidney(1)											154	140	145					7																	94050324		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2299C>A	7.37:g.94050324C>A	ENSP00000297268:p.Pro767Thr		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174766	0.78452	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96651	-4.08	5.63	5.63	0.86233	.	0.058954	0.64402	D	0.000001	D	0.96876	0.8980	M	0.71920	2.185	0.58432	D	0.999999	P	0.47841	0.901	P	0.49276	0.605	D	0.96988	0.9720	10	0.66056	D	0.02	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	767	P08123	CO1A2_HUMAN	T	767;768	ENSP00000297268:P767T	ENSP00000297268:P767T	P	+	1	0	COL1A2	93888260	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	3.868000	0.56055	2.824000	0.97209	0.655000	0.94253	CCA		0.443	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		A	94050324	C	A	94050324	3	1	531	1	0	0	0	0	1	0	0	0	3680	855	30	4	2449	4	COL1A2	7	94050324	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	19900487	94050324	65088339	42	28398											
LMTK2	22853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	97766647	97766647	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr7:97766647G>A	ENST00000297293.5	+	2	417	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	42					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.E42K(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACCTGCTGCAGAAGTTTCCTC	0.348																																																2	Substitution - Missense(2)	kidney(2)											77	77	77					7																	97766647		2203	4300	6503	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.124G>A	7.37:g.97766647G>A	ENSP00000297293:p.Glu42Lys		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601977	0.87055	.	.	ENSG00000164715	ENST00000297293	T	0.78246	-1.16	5.12	5.12	0.69794	.	0.198328	0.45126	D	0.000396	T	0.81564	0.4849	L	0.38175	1.15	0.36122	D	0.845521	D	0.76494	0.999	D	0.65987	0.94	T	0.81267	-0.1010	10	0.22109	T	0.4	.	17.5682	0.87927	0.0:0.0:1.0:0.0	.	42	Q8IWU2	LMTK2_HUMAN	K	42	ENSP00000297293:E42K	ENSP00000297293:E42K	E	+	1	0	LMTK2	97604583	1.000000	0.71417	0.843000	0.33291	0.987000	0.75469	5.268000	0.65536	2.379000	0.81126	0.591000	0.81541	GAA		0.348	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		A	97766647	G	A	97766647	3	1	531	1	0	0	0	0	1	0	0	0	8861	943	33	2	130	2	LMTK2	7	97766647	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	3716323	97766647	61372016	43	28399											
RBM28	55131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127961369	127961369	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr7:127961369T>A	ENST00000223073.2	-	14	1627	c.1513A>T	c.(1513-1515)Aag>Tag	p.K505*	RBM28_ENST00000415472.2_Nonsense_Mutation_p.K364*|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	505	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K505*(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGCAGCAGCTTTCTGAGCTGT	0.507																																																1	Substitution - Nonsense(1)	kidney(1)											171	150	157					7																	127961369		2203	4300	6503	SO:0001587	stop_gained	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1513A>T	7.37:g.127961369T>A	ENSP00000223073:p.Lys505*		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Nonsense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	T	40	8.306268	0.98752	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	.	.	.	5.72	5.72	0.89469	.	0.167364	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6702	10.0801	0.42384	0.0:0.0:0.1686:0.8314	.	.	.	.	X	505;364	.	ENSP00000223073:K505X	K	-	1	0	RBM28	127748605	0.983000	0.35010	0.998000	0.56505	0.974000	0.67602	1.169000	0.31871	2.171000	0.68590	0.533000	0.62120	AAG		0.507	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		A	127961369	T	A	127961369	4	1	531	1	0	0	0	0	0	1	0	0	13134	1850	64	5	790	5	RBM28	7	127961369	Nonsense_Mutation	SNP	T	TCGA-CJ-4912-01A-01D-1429-08	30194722	127961369	31177294	44	28400											
SVOPL	136306	broad.mit.edu;hgsc.bcm.edu	37	7	138333763	138333763	+	Silent	SNP	G	G	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr7:138333763G>T	ENST00000419765.3	-	7	687	c.654C>A	c.(652-654)gcC>gcA	p.A218A	SVOPL_ENST00000421622.1_Silent_p.A98A|SVOPL_ENST00000436657.1_Silent_p.A66A|SVOPL_ENST00000288513.5_Silent_p.A66A	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	218						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.A218A(1)|p.A66A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCACCTTGAAGGCCACGATGA	0.587																																																2	Substitution - coding silent(2)	kidney(2)											66	56	60					7																	138333763		2203	4300	6503	SO:0001819	synonymous_variant	136306			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.654C>A	7.37:g.138333763G>T				Silent	SNP	ENST00000419765.3	37	CCDS47721.1																																																																																				0.587	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		T	138333763	G	T	138333763	2	4	531	1	0	0	0	0	0	0	0	1	15429	987	35	4		4	SVOPL	7	138333763	Silent	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	10372394	138333763	20804900	45	28401											
UBN2	254048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138944050	138944050	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr7:138944050A>G	ENST00000473989.3	+	5	839	c.839A>G	c.(838-840)aAg>aGg	p.K280R	UBN2_ENST00000288561.8_Missense_Mutation_p.K197R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	280	Lys-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)		p.K197R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAGATGAAGAAGCGGAAGCGG	0.383																																																1	Substitution - Missense(1)	kidney(1)											123	129	127					7																	138944050		1836	4088	5924	SO:0001583	missense	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.839A>G	7.37:g.138944050A>G	ENSP00000418648:p.Lys280Arg		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	CCDS43655.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.8|25.8	4.675342|4.675342	0.88445|0.88445	.|.	.|.	ENSG00000157741|ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561|ENST00000483726	T;T;T|.	0.22336|.	1.96;1.96;1.96|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.090204|.	0.85682|.	D|.	0.000000|.	T|T	0.68550|0.68550	0.3013|0.3013	L|L	0.54323|0.54323	1.7|1.7	0.50813|0.50813	D|D	0.999892|0.999892	D|.	0.60575|.	0.988|.	P|.	0.54759|.	0.76|.	T|T	0.66544|0.66544	-0.5897|-0.5897	10|5	0.38643|.	T|.	0.18|.	-4.0519|-4.0519	14.9418|14.9418	0.71000|0.71000	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	280|.	Q6ZU65|.	UBN2_HUMAN|.	R|G	103;280;197|49	ENSP00000417849:K103R;ENSP00000418648:K280R;ENSP00000288561:K197R|.	ENSP00000288561:K197R|.	K|S	+|+	2|1	0|0	UBN2|UBN2	138594590|138594590	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	5.462000|5.462000	0.66707|0.66707	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	AAG|AGC		0.383	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		G	138944050	A	G	138944050	3	3	531	1	0	0	0	0	1	0	0	0	16898	72	3	3	857	3	UBN2	7	138944050	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	610287	138944050	20194613	46	28402											
CUL1	8454	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148454216	148454216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr7:148454216C>T	ENST00000325222.4	+	4	736	c.457C>T	c.(457-459)Cga>Tga	p.R153*	CUL1_ENST00000602748.1_Nonsense_Mutation_p.R153*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.R153*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	153					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.R153*(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGAAGGACGAAAAGGAAT	0.338																																																1	Substitution - Nonsense(1)	kidney(1)											107	106	106					7																	148454216		2203	4300	6503	SO:0001587	stop_gained	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.457C>T	7.37:g.148454216C>T	ENSP00000326804:p.Arg153*		D3DWG3|O60719|Q08AL6|Q8IYW1	Nonsense_Mutation	SNP	ENST00000325222.4	37	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	40	8.318099	0.98757	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	.	.	.	5.26	3.39	0.38822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.7299	14.3252	0.66515	0.271:0.729:0.0:0.0	.	.	.	.	X	153;153;111;80	.	ENSP00000326804:R153X	R	+	1	2	CUL1	148085149	1.000000	0.71417	0.880000	0.34516	0.996000	0.88848	5.823000	0.69272	0.671000	0.31185	0.650000	0.86243	CGA		0.338	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		T	148454216	C	T	148454216	4	4	531	1	0	0	0	0	0	1	0	0	4056	528	19	1	467	1	CUL1	7	148454216	Nonsense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	9510166	148454216	10684447	47	28403											
MYBL1	4603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67484765	67484765	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr8:67484765C>A	ENST00000522677.3	-	12	2090	c.1680G>T	c.(1678-1680)aaG>aaT	p.K560N	MYBL1_ENST00000517885.1_Missense_Mutation_p.K218N|MYBL1_ENST00000524176.2_Missense_Mutation_p.K560N	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	560					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.K560N(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CAAGCGCATTCTTAAAAGGAG	0.303																																																2	Substitution - Missense(2)	breast(1)|kidney(1)											104	95	98					8																	67484765		1809	4073	5882	SO:0001583	missense	4603			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1680G>T	8.37:g.67484765C>A	ENSP00000429633:p.Lys560Asn		E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836273	0.71373	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.51817	0.69;0.69;0.69	5.59	4.72	0.59763	C-myb, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69584	0.3127	M	0.86864	2.845	0.53005	D	0.999967	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.994;1.0	T	0.73864	-0.3848	10	0.87932	D	0	-14.0084	9.1086	0.36714	0.0:0.7678:0.0:0.2322	.	560;559;560	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	N	560;218;560	ENSP00000429633:K560N;ENSP00000428265:K218N;ENSP00000428011:K560N	ENSP00000428265:K218N	K	-	3	2	MYBL1	67647319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.834000	0.27518	1.501000	0.48654	0.655000	0.94253	AAG		0.303	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		A	67484765	C	A	67484765	3	1	531	1	0	0	0	0	1	0	0	0	10011	912	32	4	598	4	MYBL1	8	67484765	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08		67484765	78879257	48	28404											
ARFGEF1	10565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	68111271	68111271	+	Silent	SNP	A	A	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr8:68111271A>G	ENST00000262215.3	-	39	5837	c.5448T>C	c.(5446-5448)atT>atC	p.I1816I	ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1816					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.I1816I(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAAGTTCAGGAATCAAGTCAA	0.368																																																1	Substitution - coding silent(1)	kidney(1)											132	127	129					8																	68111271		2203	4300	6503	SO:0001819	synonymous_variant	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5448T>C	8.37:g.68111271A>G			Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	CCDS6199.1																																																																																				0.368	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		G	68111271	A	G	68111271	2	3	531	1	0	0	0	0	0	0	0	1	852	242	9	3		3	ARFGEF1	8	68111271	Silent	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	626506	68111271	78252751	49	28405											
KANK1	23189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	732501	732501	+	Silent	SNP	T	T	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr9:732501T>C	ENST00000382303.1	+	10	3781	c.3129T>C	c.(3127-3129)acT>acC	p.T1043T	KANK1_ENST00000382293.3_Silent_p.T885T|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.T1043T	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1043					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.T1043T(1)|p.T885T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		ATGAAGACACTCGGGGAATGG	0.473																																																2	Substitution - coding silent(2)	kidney(2)											174	153	160					9																	732501		2203	4300	6503	SO:0001819	synonymous_variant	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3129T>C	9.37:g.732501T>C			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																				0.473	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		C	732501	T	C	732501	2	2	531	1	0	0	0	0	0	0	0	1	7978	1538	54	3		3	KANK1	9	732501	Silent	SNP	T	TCGA-CJ-4912-01A-01D-1429-08		732501	140480930	50	28406											
RABGAP1	23637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125782628	125782628	+	Silent	SNP	T	T	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr9:125782628T>C	ENST00000373647.4	+	13	1818	c.1684T>C	c.(1684-1686)Tta>Cta	p.L562L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	562					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.L490L(1)|p.L562L(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTTGTCATCCTTAGTAAGAAA	0.418																																																2	Substitution - coding silent(2)	kidney(2)											111	104	106					9																	125782628		2203	4300	6503	SO:0001819	synonymous_variant	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1684T>C	9.37:g.125782628T>C			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	CCDS6848.2																																																																																				0.418	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		C	125782628	T	C	125782628	2	2	531	1	0	0	0	0	0	0	0	1	12970	1606	56	3		3	RABGAP1	9	125782628	Silent	SNP	T	TCGA-CJ-4912-01A-01D-1429-08	125050127	125782628	15430803	51	28407											
C9orf163	158055	broad.mit.edu	37	9	139379131	139379131	+	Silent	SNP	G	G	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr9:139379131G>A	ENST00000354376.1	+	1	1185	c.231G>A	c.(229-231)caG>caA	p.Q77Q		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	77								p.Q77Q(1)		kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		TGCCACGCCAGCAGGGCCGCA	0.662																																																1	Substitution - coding silent(1)	kidney(1)											30	31	30					9																	139379131		2200	4300	6500	SO:0001819	synonymous_variant	158055			AK055336	CCDS7001.1	9q34.3	2006-03-21			ENSG00000196366	ENSG00000196366			26718	protein-coding gene	gene with protein product							Standard	NM_152571		Approved	FLJ36779	uc004chy.3	Q8N9P6	OTTHUMG00000131725	ENST00000354376.1:c.231G>A	9.37:g.139379131G>A				Silent	SNP	ENST00000354376.1	37	CCDS7001.1																																																																																				0.662	C9orf163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254644.1	NM_152571		A	139379131	G	A	139379131	2	1	531	1	0	0	0	0	0	0	0	1	2469	962	34	2		2	C9orf163	9	139379131	Silent	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	13596503	139379131	1834300	52	28408											
PRTFDC1	56952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	25145923	25145923	+	Splice_Site	SNP	T	T	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr10:25145923T>G	ENST00000320152.6	-	6	453	c.425A>C	c.(424-426)gAt>gCt	p.D142A	PRTFDC1_ENST00000376378.1_Splice_Site_p.D142A	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	142					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)	p.D142A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TCCGACAACATCCTTTGCAAA	0.398																																																1	Substitution - Missense(1)	kidney(1)											231	189	203					10																	25145923		2203	4300	6503	SO:0001630	splice_region_variant	56952			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.424-1A>C	10.37:g.25145923T>G			B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	T	7.815	0.716550	0.15306	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378	D;D	0.99929	-8.12;-8.12	5.59	5.59	0.84812	Phosphoribosyltransferase (1);	0.210015	0.48767	D	0.000176	D	0.99898	0.9951	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.972;0.998	P;D	0.65987	0.545;0.94	D	0.95872	0.8892	10	0.51188	T	0.08	.	15.761	0.78080	0.0:0.0:0.0:1.0	.	142;142	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	A	142	ENSP00000318602:D142A;ENSP00000365558:D142A	ENSP00000318602:D142A	D	-	2	0	PRTFDC1	25185929	1.000000	0.71417	0.986000	0.45419	0.099000	0.18886	1.917000	0.39996	2.135000	0.66039	0.454000	0.30748	GAT		0.398	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200	Missense_Mutation	G	25145923	T	G	25145923	5	3	531	1	0	0	0	0	0	0	1	0	12642	1449	50	5	268	5	PRTFDC1	10	25145923	Splice_Site	SNP	T	TCGA-CJ-4912-01A-01D-1429-08		25145923	110388824	53	28409											
GBF1	8729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	104126846	104126846	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr10:104126846G>C	ENST00000369983.3	+	20	2695	c.2435G>C	c.(2434-2436)tGt>tCt	p.C812S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	812	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.C812S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTTCAGAATTGTAATGGCTCC	0.483																																																1	Substitution - Missense(1)	kidney(1)											150	129	136					10																	104126846		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2435G>C	10.37:g.104126846G>C	ENSP00000359000:p.Cys812Ser		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819791	0.32145	.	.	ENSG00000107862	ENST00000369983	T	0.77877	-1.13	5.68	5.68	0.88126	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.260239	0.45126	D	0.000398	T	0.65059	0.2655	L	0.31207	0.915	0.39800	D	0.972559	B;B;B	0.11235	0.002;0.004;0.001	B;B;B	0.17098	0.005;0.017;0.002	T	0.59637	-0.7417	10	0.07325	T	0.83	-8.4588	14.2554	0.66048	0.0:0.2663:0.7337:0.0	.	812;812;812	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	S	812	ENSP00000359000:C812S	ENSP00000359000:C812S	C	+	2	0	GBF1	104116836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.523000	0.60545	2.676000	0.91093	0.563000	0.77884	TGT		0.483	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			C	104126846	G	C	104126846	3	2	531	1	0	0	0	0	1	0	0	0	6273	1377	48	4	2509	4	GBF1	10	104126846	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	78980923	104126846	31407901	54	28410											
SEC23IP	11196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	121657969	121657969	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr10:121657969G>C	ENST00000369075.3	+	2	266	c.194G>C	c.(193-195)aGc>aCc	p.S65T	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	65	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S65T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GAGGAGGACAGCTTCCTTGGT	0.448																																																1	Substitution - Missense(1)	kidney(1)											186	167	174					10																	121657969		2203	4300	6503	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.194G>C	10.37:g.121657969G>C	ENSP00000358071:p.Ser65Thr		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861174	0.91433	.	.	ENSG00000107651	ENST00000369075	D	0.97303	-4.33	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98169	0.9395	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.98192	1.0463	10	0.41790	T	0.15	-10.1621	18.8903	0.92397	0.0:0.0:1.0:0.0	.	65	Q9Y6Y8	S23IP_HUMAN	T	65	ENSP00000358071:S65T	ENSP00000358071:S65T	S	+	2	0	SEC23IP	121647959	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.117000	0.94347	2.464000	0.83262	0.655000	0.94253	AGC		0.448	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			C	121657969	G	C	121657969	3	2	531	1	0	0	0	0	1	0	0	0	13999	971	34	4	200	4	SEC23IP	10	121657969	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	17531123	121657969	13876778	55	28411											
GPR123	84435	broad.mit.edu;hgsc.bcm.edu	37	10	134942620	134942620	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr10:134942620C>G	ENST00000392607.3	+	7	1724	c.1288C>G	c.(1288-1290)Cca>Gca	p.P430A	GPR123_ENST00000392606.2_Missense_Mutation_p.P333A|GPR123_ENST00000607359.1_Missense_Mutation_p.P1149A	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	430					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P1149A(1)|p.P430A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TAGCCGGCACCCAGCAGAGGA	0.692																																																2	Substitution - Missense(2)	kidney(2)											12	12	12					10																	134942620		2121	4199	6320	SO:0001583	missense	84435			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1288C>G	10.37:g.134942620C>G	ENSP00000376384:p.Pro430Ala		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	0.348	-0.946643	0.02304	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.03524	3.9	4.39	-1.42	0.08913	.	1.919140	0.03524	N	0.221412	T	0.01592	0.0051	N	0.00801	-1.175	0.09310	N	1	B;B	0.20261	0.001;0.043	B;B	0.17722	0.0;0.019	T	0.45056	-0.9287	10	0.54805	T	0.06	-2.1691	6.13	0.20199	0.1333:0.2608:0.5229:0.083	.	430;1149	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	A	1149;430;334	ENSP00000376384:P430A	ENSP00000357566:P1149A	P	+	1	0	GPR123	134792610	0.004000	0.15560	0.000000	0.03702	0.079000	0.17450	0.425000	0.21346	-0.534000	0.06315	0.561000	0.74099	CCA		0.692	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			G	134942620	C	G	134942620	3	3	531	1	0	0	0	0	1	0	0	0	6639	623	22	4	1310	4	GPR123	10	134942620	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	13284651	134942620	592127	56	28412											
ZNF215	7762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6953811	6953811	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr11:6953811A>C	ENST00000278319.5	+	3	896	c.308A>C	c.(307-309)gAa>gCa	p.E103A	ZNF215_ENST00000414517.2_Missense_Mutation_p.E103A|ZNF215_ENST00000529903.1_Missense_Mutation_p.E103A|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	103	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E103A(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CTGCCTGAAGAAGTCAGGACT	0.413																																																1	Substitution - Missense(1)	kidney(1)											62	66	64					11																	6953811		2201	4296	6497	SO:0001583	missense	7762			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.308A>C	11.37:g.6953811A>C	ENSP00000278319:p.Glu103Ala		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331919	0.60853	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.08370	3.1;3.1;3.1	3.86	3.86	0.44501	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.175198	0.27415	N	0.019462	T	0.28532	0.0706	M	0.87456	2.885	0.27503	N	0.951934	P;D;D	0.58620	0.896;0.978;0.983	P;P;D	0.66196	0.596;0.735;0.942	T	0.06661	-1.0814	10	0.87932	D	0	-13.6525	9.3551	0.38161	1.0:0.0:0.0:0.0	.	103;103;103	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	A	103	ENSP00000278319:E103A;ENSP00000393202:E103A;ENSP00000432306:E103A	ENSP00000278319:E103A	E	+	2	0	ZNF215	6910387	1.000000	0.71417	0.992000	0.48379	0.832000	0.47134	3.205000	0.51090	1.966000	0.57179	0.533000	0.62120	GAA		0.413	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			C	6953811	A	C	6953811	3	2	531	1	0	0	0	0	1	0	0	0	17776	246	9	5	310	5	ZNF215	11	6953811	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08		6953811	128052705	57	28413											
SLC5A12	159963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	26718743	26718743	+	Silent	SNP	A	A	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr11:26718743A>G	ENST00000396005.3	-	8	1317	c.1008T>C	c.(1006-1008)ctT>ctC	p.L336L	SLC5A12_ENST00000280467.6_Silent_p.L336L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	336					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.L336L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAGCCACAAAAAGTCCTGGCA	0.398																																																2	Substitution - coding silent(2)	kidney(2)											149	140	143					11																	26718743		2203	4299	6502	SO:0001819	synonymous_variant	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1008T>C	11.37:g.26718743A>G			Q86UC7	Silent	SNP	ENST00000396005.3	37	CCDS7860.2																																																																																				0.398	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		G	26718743	A	G	26718743	2	3	531	1	0	0	0	0	0	0	0	1	14670	1	1	3		3	SLC5A12	11	26718743	Silent	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	19764932	26718743	108287773	58	28414											
NUP160	23279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47827752	47827752	+	Missense_Mutation	SNP	A	A	C	rs201150459		TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr11:47827752A>C	ENST00000378460.2	-	20	2605	c.2559T>G	c.(2557-2559)aaT>aaG	p.N853K	NUP160_ENST00000528071.1_Missense_Mutation_p.N739K|RNA5SP340_ENST00000517132.1_RNA|NUP160_ENST00000530326.1_Missense_Mutation_p.N739K	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	853					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.N853K(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTTCAGGCCAATTCAATCCAG	0.403																																																1	Substitution - Missense(1)	kidney(1)											110	113	112					11																	47827752		2201	4298	6499	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2559T>G	11.37:g.47827752A>C	ENSP00000367721:p.Asn853Lys		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	a	17.93	3.508517	0.64410	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.42513	1.54;0.97;0.97	5.53	-2.91	0.05631	.	0.256670	0.41001	D	0.000977	T	0.30696	0.0773	L	0.51422	1.61	0.80722	D	1	P	0.41475	0.751	B	0.40165	0.321	T	0.45160	-0.9280	10	0.06625	T	0.88	.	14.4876	0.67629	0.4642:0.0:0.5358:0.0	.	853	Q12769	NU160_HUMAN	K	853;739;739	ENSP00000367721:N853K;ENSP00000433590:N739K;ENSP00000432367:N739K	ENSP00000367721:N853K	N	-	3	2	NUP160	47784328	0.927000	0.31430	0.963000	0.40424	0.967000	0.64934	-0.002000	0.12924	-0.866000	0.04068	-0.253000	0.11424	AAT		0.403	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		C	47827752	A	C	47827752	3	2	531	1	0	0	0	0	1	0	0	0	10759	98	4	5	1819	5	NUP160	11	47827752	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	21109009	47827752	87178764	59	28415											
ZDHHC5	25921	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57457522	57457522	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr11:57457522C>T	ENST00000287169.3	+	5	1766	c.404C>T	c.(403-405)cCc>cTc	p.P135L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.P82L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	135					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.P135L(1)		endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CATCACTGCCCCTGGGTGAAT	0.458																																																1	Substitution - Missense(1)	kidney(1)											141	141	141					11																	57457522		2201	4296	6497	SO:0001583	missense	25921			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.404C>T	11.37:g.57457522C>T	ENSP00000287169:p.Pro135Leu		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812742	0.90707	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.23	4.31	0.51392	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.058424	0.64402	D	0.000001	T	0.59335	0.2186	M	0.93016	3.37	0.80722	D	1	D	0.63880	0.993	D	0.67103	0.949	T	0.72443	-0.4292	10	0.87932	D	0	-9.2394	15.5442	0.76081	0.0:0.8613:0.1387:0.0	.	135	Q9C0B5	ZDHC5_HUMAN	L	82;135;33;33	ENSP00000432202:P82L;ENSP00000287169:P135L;ENSP00000431209:P33L;ENSP00000435593:P33L	ENSP00000287169:P135L	P	+	2	0	ZDHHC5	57214098	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.213000	0.77950	1.409000	0.46915	0.563000	0.77884	CCC		0.458	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		T	57457522	C	T	57457522	3	4	531	1	0	0	0	0	1	0	0	0	17623	623	22	2	418	2	ZDHHC5	11	57457522	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	9629770	57457522	77548994	60	28416											
SHANK2	22941	broad.mit.edu;hgsc.bcm.edu	37	11	70338536	70338536	+	Silent	SNP	G	G	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr11:70338536G>T	ENST00000423696.2	-	12	1242	c.1206C>A	c.(1204-1206)ccC>ccA	p.P402P	SHANK2_ENST00000409161.1_Silent_p.P185P|SHANK2_ENST00000449116.2_Silent_p.P183P|SHANK2_ENST00000409530.1_Silent_p.P192P|SHANK2_ENST00000357171.3_Silent_p.P193P|SHANK2_ENST00000449833.2_Silent_p.P186P|SHANK2_ENST00000338508.4_Silent_p.P782P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	402					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.P193P(1)|p.P186P(1)|p.P782P(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CAGCGCGGGAGGGCTTGGAGG	0.607																																																3	Substitution - coding silent(3)	kidney(3)											53	51	52					11																	70338536		2200	4294	6494	SO:0001819	synonymous_variant	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1206C>A	11.37:g.70338536G>T			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.	.	.	.	.	.	.	.	.	.	G	10.74	1.435589	0.25813	.	.	ENSG00000162105	ENST00000412252	.	.	.	4.53	-1.89	0.07689	.	.	.	.	.	T	0.38585	0.1046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28267	-1.0049	4	.	.	.	.	0.7408	0.00974	0.2049:0.1901:0.3353:0.2698	.	.	.	.	I	192	.	.	L	-	1	0	SHANK2	70016184	0.274000	0.24191	0.798000	0.32154	0.989000	0.77384	-0.059000	0.11731	-0.434000	0.07275	0.650000	0.86243	CTC		0.607	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		T	70338536	G	T	70338536	2	4	531	1	0	0	0	0	0	0	0	1	14271	987	35	4		4	SHANK2	11	70338536	Silent	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	12881014	70338536	64667980	61	28417											
MPZL2	10205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118133279	118133279	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr11:118133279A>G	ENST00000278937.2	-	3	438	c.310T>C	c.(310-312)Tac>Cac	p.Y104H	MPZL2_ENST00000438295.2_Missense_Mutation_p.Y104H|MPZL2_ENST00000525647.1_5'Flank	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	104	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y104H(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GAGGCATCGTACCGCTCAGGA	0.527																																																1	Substitution - Missense(1)	kidney(1)											136	103	114					11																	118133279		2200	4296	6496	SO:0001583	missense	10205			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.310T>C	11.37:g.118133279A>G	ENSP00000278937:p.Tyr104His		A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	A	6.218	0.408452	0.11754	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	T;T	0.64438	-0.1;-0.1	5.98	0.0787	0.14413	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.572209	0.20527	N	0.090599	T	0.36524	0.0970	N	0.11201	0.11	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.18681	-1.0329	10	0.24483	T	0.36	.	8.9625	0.35856	0.219:0.0:0.0741:0.707	.	104	O60487	MPZL2_HUMAN	H	104	ENSP00000278937:Y104H;ENSP00000408362:Y104H	ENSP00000278937:Y104H	Y	-	1	0	MPZL2	117638489	0.000000	0.05858	0.015000	0.15790	0.106000	0.19336	-0.268000	0.08607	0.067000	0.16545	0.528000	0.53228	TAC		0.527	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		G	118133279	A	G	118133279	3	3	531	1	0	0	0	0	1	0	0	0	9752	391	14	3	349	3	MPZL2	11	118133279	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	47794743	118133279	16873237	62	28418											
MLL	4297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118370617	118370617	+	Silent	SNP	T	T	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr11:118370617T>A	ENST00000389506.5	+	24	6138	c.6138T>A	c.(6136-6138)ccT>ccA	p.P2046P	KMT2A_ENST00000354520.4_Silent_p.P2008P|KMT2A_ENST00000534358.1_Silent_p.P2049P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2046	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.P2046P(1)|p.P2049P(1)									AGCTCTTTCCTATTGGATATC	0.428																																																2	Substitution - coding silent(2)	kidney(2)											100	95	97					11																	118370617		2200	4296	6496	SO:0001819	synonymous_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6138T>A	11.37:g.118370617T>A			E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																				0.428	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		A	118370617	T	A	118370617	2	1	531	1	0	0	0	0	0	0	0	1	9622	1509	53	5		5	MLL	11	118370617	Silent	SNP	T	TCGA-CJ-4912-01A-01D-1429-08	237338	118370617	16635899	63	28419											
WNK1	65125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	936351	936351	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr12:936351G>C	ENST00000315939.6	+	3	1719	c.1076G>C	c.(1075-1077)gGc>gCc	p.G359A	WNK1_ENST00000535572.1_Missense_Mutation_p.G359A|WNK1_ENST00000537687.1_Missense_Mutation_p.G359A|WNK1_ENST00000447667.2_Missense_Mutation_p.G359A|WNK1_ENST00000530271.2_Missense_Mutation_p.G359A	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.G359A(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTTATCACCGGCCCTACTGGC	0.483																																					Colon(19;451 567 6672 12618 28860)											2	Substitution - Missense(2)	kidney(2)											172	173	173					12																	936351		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1076G>C	12.37:g.936351G>C	ENSP00000313059:p.Gly359Ala		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264874	0.95399	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.71461	1.82;1.82;1.82;-0.57;1.82	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000014	T	0.77003	0.4067	N	0.21142	0.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.998	T	0.80353	-0.1418	10	0.87932	D	0	-12.1235	19.1856	0.93642	0.0:0.0:1.0:0.0	.	359;359;359	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	A	359	ENSP00000441972:G359A;ENSP00000313059:G359A;ENSP00000444465:G359A;ENSP00000392542:G359A;ENSP00000433548:G359A	ENSP00000313059:G359A	G	+	2	0	WNK1	806612	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.548000	0.85928	0.491000	0.48974	GGC		0.483	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		C	936351	G	C	936351	3	2	531	1	0	0	0	0	1	0	0	0	17382	1203	42	4	1086	4	WNK1	12	936351	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08		936351	132915544	64	28420											
FOXM1	2305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2983386	2983386	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr12:2983386T>A	ENST00000359843.3	-	2	327	c.259A>T	c.(259-261)Atc>Ttc	p.I87F	FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000361953.3_Missense_Mutation_p.I87F|RHNO1_ENST00000489288.2_5'Flank|FOXM1_ENST00000342628.2_Missense_Mutation_p.I87F|RHNO1_ENST00000461997.2_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	87					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.I87F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GCTGTGATGATGCTGTGAATA	0.517																																																1	Substitution - Missense(1)	kidney(1)											171	143	152					12																	2983386		2203	4300	6503	SO:0001583	missense	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.259A>T	12.37:g.2983386T>A	ENSP00000352901:p.Ile87Phe		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356026	0.61293	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.95238	-3.49;-3.65;-3.57	5.15	5.15	0.70609	.	0.110600	0.64402	D	0.000007	D	0.96651	0.8907	M	0.72118	2.19	0.46298	D	0.998975	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.76575	0.972;0.972;0.988;0.972;0.988	D	0.97163	0.9839	10	0.87932	D	0	.	14.3268	0.66526	0.0:0.0:0.0:1.0	.	87;87;87;87;87	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	F	87	ENSP00000342307:I87F;ENSP00000354492:I87F;ENSP00000352901:I87F	ENSP00000342307:I87F	I	-	1	0	FOXM1	2853647	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	2.273000	0.43381	2.160000	0.67779	0.533000	0.62120	ATC		0.517	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		A	2983386	T	A	2983386	3	1	531	1	0	0	0	0	1	0	0	0	6020	1464	51	5	2182	5	FOXM1	12	2983386	Missense_Mutation	SNP	T	TCGA-CJ-4912-01A-01D-1429-08	2047035	2983386	130868509	65	28421											
DUSP16	80824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	12629998	12629998	+	Silent	SNP	A	A	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr12:12629998A>T	ENST00000228862.2	-	7	2398	c.1767T>A	c.(1765-1767)acT>acA	p.T589T	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	589					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T589T(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGTCTCCGCAAGTGGGCAGCT	0.572																																					Ovarian(158;443 1896 15437 36069 46477)											1	Substitution - coding silent(1)	kidney(1)											80	84	83					12																	12629998		2203	4300	6503	SO:0001819	synonymous_variant	80824			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	17909	protein-coding gene	gene with protein product	"MAPK phosphatase-7"	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1767T>A	12.37:g.12629998A>T			Q547C7|Q96QS2|Q9C0G3	Silent	SNP	ENST00000228862.2	37	CCDS8650.1																																																																																				0.572	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		T	12629998	A	T	12629998	2	4	531	1	0	0	0	0	0	0	0	1	4818	59	3	5		5	DUSP16	12	12629998	Silent	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	9646612	12629998	121221897	66	28422											
TRPC4	7223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	38266299	38266299	+	Silent	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr13:38266299C>T	ENST00000379705.3	-	4	1928	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	TRPC4_ENST00000358477.2_Silent_p.L357L|TRPC4_ENST00000426868.2_Silent_p.L357L|TRPC4_ENST00000355779.2_Silent_p.L357L|TRPC4_ENST00000379679.1_Silent_p.L184L|TRPC4_ENST00000379673.2_Silent_p.L357L|TRPC4_ENST00000379681.3_Silent_p.L357L|TRPC4_ENST00000338947.5_Silent_p.L184L|TRPC4_ENST00000447043.1_Silent_p.L357L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	357					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L357L(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCTGATGAACAGTCCAAGTG	0.463																																																2	Substitution - coding silent(2)	kidney(2)											114	110	111					13																	38266299		2203	4300	6503	SO:0001819	synonymous_variant	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1071G>A	13.37:g.38266299C>T			B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																				0.463	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		T	38266299	C	T	38266299	2	4	531	1	0	0	0	0	0	0	0	1	16585	465	17	2		2	TRPC4	13	38266299	Silent	SNP	C	TCGA-CJ-4912-01A-01D-1429-08		38266299	76903579	67	28423											
RBM26	64062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	79940847	79940847	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr13:79940847A>C	ENST00000438737.2	-	7	1496	c.1056T>G	c.(1054-1056)atT>atG	p.I352M	RBM26_ENST00000438724.1_Missense_Mutation_p.I352M|RBM26_ENST00000267229.7_Missense_Mutation_p.I352M|RBM26_ENST00000461008.1_5'Flank			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	352	Pro-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I352M(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGGGTGTAAGAATTGGTGGAG	0.537																																																2	Substitution - Missense(2)	kidney(2)											47	50	49					13																	79940847		2203	4300	6503	SO:0001583	missense	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1056T>G	13.37:g.79940847A>C	ENSP00000387531:p.Ile352Met		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37		.	.	.	.	.	.	.	.	.	.	A	18.06	3.539140	0.65085	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.42513	0.97;0.97	5.49	4.26	0.50523	.	0.059602	0.64402	D	0.000002	T	0.22085	0.0532	N	0.04880	-0.145	0.39090	D	0.961084	P;P;P	0.43701	0.815;0.718;0.815	B;B;B	0.40009	0.316;0.168;0.316	T	0.06752	-1.0809	9	.	.	.	-18.937	11.8752	0.52544	0.9303:0.0:0.0697:0.0	.	352;352;352	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	M	352;353;352;352	ENSP00000267229:I352M;ENSP00000390222:I352M	.	I	-	3	3	RBM26	78838848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.122000	0.57910	0.967000	0.38186	0.533000	0.62120	ATT		0.537	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		C	79940847	A	C	79940847	3	2	531	1	0	0	0	0	1	0	0	0	13132	242	9	5	1946	5	RBM26	13	79940847	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	41674548	79940847	35229031	68	28424											
ACOT1	641371	hgsc.bcm.edu	37	14	74009978	74009978	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr14:74009978delC	ENST00000311148.4	+	3	1193	c.885delC	c.(883-885)gtcfs	p.V295fs	HEATR4_ENST00000560393.1_Intron|ACOT1_ENST00000557556.1_Frame_Shift_Del_p.V269fs|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000334988.2_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	295					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		TTGTGGATGTCCTGAACAGCC	0.542																																																0													40	29	33					14																	74009978		2195	4269	6464	SO:0001589	frameshift_variant	641371			DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"Acyl CoA thioesterases"	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.885delC	14.37:g.74009978delC	ENSP00000311224:p.Val295fs		A1L173|Q3I5F9	Frame_Shift_Del	DEL	ENST00000311148.4	37	CCDS32117.1																																																																																				0.542	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161		-	74009978	C	-	74009978	7	5	531	1	0	1	0	1	0	0	0	0	148	842	30	0	895	0	ACOT1	14	74009978	Frame_Shift_Del	DEL	C	TCGA-CJ-4912-01A-01D-1429-08		74009978	33339562	69	28425											
ACOT2	10965	hgsc.bcm.edu	37	14	74041836	74041836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr14:74041836delC	ENST00000238651.5	+	3	1253	c.1071delC	c.(1069-1071)gtcfs	p.V357fs	ACOT2_ENST00000538782.1_Frame_Shift_Del_p.V160fs|ACOT2_ENST00000557857.1_3'UTR	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	357					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TTGTGGATGTCCTGAACAGCC	0.537																																																0													10	10	10					14																	74041836		1760	3653	5413	SO:0001589	frameshift_variant	10965			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"Acyl CoA thioesterases"	18431	protein-coding gene	gene with protein product	"mitochondrial acyl-CoA thioesterase 1"	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.1071delC	14.37:g.74041836delC	ENSP00000238651:p.Val357fs		Q3I5F8|Q53EK4|Q9NUX4	Frame_Shift_Del	DEL	ENST00000238651.5	37	CCDS9816.1																																																																																				0.537	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		-	74041836	C	-	74041836	7	5	531	1	0	1	0	1	0	0	0	0	152	842	30	0	1081	0	ACOT2	14	74041836	Frame_Shift_Del	DEL	C	TCGA-CJ-4912-01A-01D-1429-08	31858	74041836	33307704	70	28426											
WDR93	56964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90276288	90276288	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr15:90276288T>A	ENST00000268130.7	+	13	1483	c.1382T>A	c.(1381-1383)aTt>aAt	p.I461N	WDR93_ENST00000560294.1_Intron|WDR93_ENST00000444934.2_Missense_Mutation_p.I178N	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	461					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.I461N(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCCAAAGCATTCACTTCCTA	0.478																																																1	Substitution - Missense(1)	kidney(1)											111	120	117					15																	90276288		2200	4299	6499	SO:0001583	missense	56964				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1382T>A	15.37:g.90276288T>A	ENSP00000268130:p.Ile461Asn		Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.177341	0.78564	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.35973	1.28;2.04	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.408897	0.22927	N	0.053958	T	0.44008	0.1273	L	0.57536	1.79	0.31624	N	0.649964	P	0.49090	0.919	P	0.48627	0.584	T	0.58640	-0.7601	10	0.87932	D	0	-5.5681	12.4501	0.55673	0.0:0.0:0.0:1.0	.	461	Q6P2C0	WDR93_HUMAN	N	461;178	ENSP00000268130:I461N;ENSP00000403871:I178N	ENSP00000268130:I461N	I	+	2	0	WDR93	88077292	0.914000	0.31030	0.996000	0.52242	0.979000	0.70002	4.193000	0.58385	2.187000	0.69744	0.524000	0.50904	ATT		0.478	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		A	90276288	T	A	90276288	3	1	531	1	0	0	0	0	1	0	0	0	17345	1493	52	5	1428	5	WDR93	15	90276288	Missense_Mutation	SNP	T	TCGA-CJ-4912-01A-01D-1429-08		90276288	12255104	71	28427											
TBC1D24	57465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2549923	2549923	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr16:2549923G>A	ENST00000293970.5	+	6	1427	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	TBC1D24_ENST00000567020.1_Missense_Mutation_p.V426M|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Missense_Mutation_p.V432M	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	432	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)	p.V426M(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AGAATGCTTTGTGTTTAGGGT	0.577																																																1	Substitution - Missense(1)	kidney(1)											210	229	222					16																	2549923		2018	4168	6186	SO:0001583	missense	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1294G>A	16.37:g.2549923G>A	ENSP00000293970:p.Val432Met		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322937	0.81580	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T	0.50548	0.74	5.65	5.65	0.86999	TLDc (2);	0.000000	0.85682	D	0.000000	T	0.74261	0.3693	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.78568	-0.2154	10	0.87932	D	0	-33.9513	18.2983	0.90154	0.0:0.0:1.0:0.0	.	432;426	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	M	426;432	ENSP00000390106:V432M	ENSP00000293970:V426M	V	+	1	0	TBC1D24	2489924	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	9.138000	0.94501	2.660000	0.90430	0.555000	0.69702	GTG		0.577	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		A	2549923	G	A	2549923	3	1	531	1	0	0	0	0	1	0	0	0	15619	1377	48	2	1290	2	TBC1D24	16	2549923	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08		2549923	87804830	72	28428											
TMEM208	29100	broad.mit.edu	37	16	67261756	67261756	+	Silent	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr16:67261756C>T	ENST00000304800.9	+	2	130	c.24C>T	c.(22-24)ggC>ggT	p.G8G	LRRC29_ENST00000409509.1_5'Flank|TMEM208_ENST00000565201.1_Silent_p.G8G|LRRC29_ENST00000393992.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000462169.1_5'Flank|TMEM208_ENST00000563953.1_5'UTR|LRRC29_ENST00000341546.3_5'Flank	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208	8					autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G8G(1)		breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAAAGTGGGCACGAGAGGGA	0.537																																																1	Substitution - coding silent(1)	kidney(1)											59	64	62					16																	67261756		1970	4160	6130	SO:0001819	synonymous_variant	29100				CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701			25015	protein-coding gene	gene with protein product						11042152	Standard	NM_014187		Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000304800.9:c.24C>T	16.37:g.67261756C>T			Q05CT0|Q96D25|Q9NZZ7	Silent	SNP	ENST00000304800.9	37	CCDS45511.1																																																																																				0.537	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2	NM_014187		T	67261756	C	T	67261756	2	4	531	1	0	0	0	0	0	0	0	1	16138	697	25	2		2	TMEM208	16	67261756	Silent	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	64711833	67261756	23092997	73	28429											
CNTNAP4	85445	broad.mit.edu;hgsc.bcm.edu	37	16	76495979	76495979	+	Missense_Mutation	SNP	C	C	T	rs375548298		TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr16:76495979C>T	ENST00000476707.1	+	8	1608	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S438L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S414L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S486L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	487	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.S486L(1)|p.S462L(1)|p.S414L(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGATTTATTCGGGTGGCACC	0.493																																																3	Substitution - Missense(3)	kidney(3)						C	LEU/SER,LEU/SER	0,4396		0,0,2198	55	52	53		1241,1459	1.6	0	16		53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CNTNAP4	NM_138994.3,NM_033401.3	145,145	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	414/1236,487/1309	76495979	1,12995	2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1469C>T	16.37:g.76495979C>T	ENSP00000417628:p.Ser490Leu		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	C	7.372	0.627055	0.14257	0.0	1.16E-4	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.64	1.57	0.23409	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.674592	0.11844	N	0.523983	T	0.63189	0.2490	.	.	.	0.28021	N	0.93453	B;B;B;B	0.19583	0.033;0.037;0.037;0.034	B;B;B;B	0.27170	0.077;0.022;0.032;0.045	T	0.56986	-0.7888	9	0.56958	D	0.05	.	5.7167	0.17964	0.1562:0.6812:0.0:0.1626	.	414;490;462;487	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	L	486;438;414;490	ENSP00000306893:S486L;ENSP00000439733:S438L;ENSP00000418741:S414L;ENSP00000417628:S490L	ENSP00000306893:S486L	S	+	2	0	CNTNAP4	75053480	0.860000	0.29831	0.004000	0.12327	0.098000	0.18820	2.132000	0.42083	0.274000	0.22072	-0.188000	0.12872	TCG		0.493	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		T	76495979	C	T	76495979	3	4	531	1	0	0	0	0	1	0	0	0	3651	893	31	1	1507	1	CNTNAP4	16	76495979	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	9234223	76495979	13858774	74	28430											
ACTG1	71	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79478982	79478982	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr17:79478982G>C	ENST00000575842.1	-	2	736	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.L104V|ACTG1_ENST00000573283.1_Missense_Mutation_p.L104V|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.L104V			P63261	ACTG_HUMAN	actin, gamma 1	104					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.L104V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TCGGTCAGCAGCACTGGGTGC	0.627																																																1	Substitution - Missense(1)	kidney(1)											45	53	50					17																	79478982		2203	4299	6502	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.310C>G	17.37:g.79478982G>C	ENSP00000458162:p.Leu104Val		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000575842.1	37	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080067	0.36662	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.96491	-4.03	4.51	0.954	0.19595	Actin/actin-like conserved site (1);	0.000000	0.56097	D	0.000038	D	0.98112	0.9377	M	0.93678	3.445	0.40613	D	0.981695	P	0.39665	0.682	D	0.67900	0.954	D	0.97158	0.9836	10	0.87932	D	0	.	5.7627	0.18209	0.1897:0.0:0.658:0.1523	.	104	P63261	ACTG_HUMAN	V	104	ENSP00000331514:L104V	ENSP00000331514:L104V	L	-	1	2	ACTG1	77093577	1.000000	0.71417	0.998000	0.56505	0.767000	0.43475	4.294000	0.59043	0.224000	0.20940	0.563000	0.77884	CTG		0.627	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		C	79478982	G	C	79478982	3	2	531	1	0	0	0	0	1	0	0	0	196	962	34	4	833	4	ACTG1	17	79478982	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08		79478982	1716228	75	28431											
DSG4	147409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	28972163	28972163	+	Nonsense_Mutation	SNP	C	C	T	rs267606777		TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr18:28972163C>T	ENST00000308128.4	+	8	1000	c.865C>T	c.(865-867)Cga>Tga	p.R289*	DSG4_ENST00000359747.4_Nonsense_Mutation_p.R289*|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R289*(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAACTGATACGATTACAAGC	0.343																																																2	Substitution - Nonsense(2)	kidney(2)	GRCh37	CM061705	DSG4	M							127	125	126					18																	28972163		2203	4300	6503	SO:0001587	stop_gained	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.865C>T	18.37:g.28972163C>T	ENSP00000311859:p.Arg289*		A2RUI1|Q6Y9L9|Q8IXV4	Nonsense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	37	6.107777	0.97291	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	.	.	.	5.45	2.49	0.30216	.	0.000000	0.28595	N	0.014782	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1408	0.36903	0.4798:0.453:0.0:0.0673	.	.	.	.	X	289	.	ENSP00000311859:R289X	R	+	1	2	DSG4	27226161	0.768000	0.28519	0.932000	0.37286	0.939000	0.58152	0.838000	0.27572	0.764000	0.33197	-0.152000	0.13540	CGA		0.343	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		T	28972163	C	T	28972163	4	4	531	1	0	0	0	0	0	1	0	0	4781	528	19	1	895	1	DSG4	18	28972163	Nonsense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08		28972163	49105085	76	28432											
SLC14A2	8170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	43212331	43212331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr18:43212331G>T	ENST00000255226.6	+	5	1354	c.538G>T	c.(538-540)Gga>Tga	p.G180*	SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.G180*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	180					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.G180*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATTGCCTCAGGACTCCATGG	0.532																																																1	Substitution - Nonsense(1)	kidney(1)											220	186	198					18																	43212331		2203	4300	6503	SO:0001587	stop_gained	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.538G>T	18.37:g.43212331G>T	ENSP00000255226:p.Gly180*		A8K8Q7|Q2TBD6|Q96PH5	Nonsense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	45	11.772244	0.99601	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.4769	18.0792	0.89437	0.0:0.0:1.0:0.0	.	.	.	.	X	180	.	ENSP00000255226:G180X	G	+	1	0	SLC14A2	41466329	1.000000	0.71417	0.956000	0.39512	0.894000	0.52154	8.834000	0.92094	2.564000	0.86499	0.563000	0.77884	GGA		0.532	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			T	43212331	G	T	43212331	4	4	531	1	0	0	0	0	0	1	0	0	14403	1001	35	4	552	4	SLC14A2	18	43212331	Nonsense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08	14240168	43212331	34864917	77	28433											
ZNF560	147741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9578075	9578075	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr19:9578075A>C	ENST00000301480.4	-	10	1761	c.1548T>G	c.(1546-1548)ttT>ttG	p.F516L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F516L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGTAACACTTAAAGGGCTTCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											106	109	108					19																	9578075		2203	4300	6503	SO:0001583	missense	147741			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1548T>G	19.37:g.9578075A>C	ENSP00000301480:p.Phe516Leu		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.083052	0.36758	.	.	ENSG00000198028	ENST00000301480	T	0.21932	1.98	2.05	-0.113	0.13568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22859	0.0552	L	0.55103	1.725	0.09310	N	1	P	0.42757	0.789	P	0.46110	0.504	T	0.14980	-1.0453	9	0.66056	D	0.02	.	5.3144	0.15847	0.6851:0.0:0.3148:0.0	.	516	Q96MR9	ZN560_HUMAN	L	516	ENSP00000301480:F516L	ENSP00000301480:F516L	F	-	3	2	ZNF560	9439075	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.027000	0.13621	-0.102000	0.12197	0.402000	0.26972	TTT		0.413	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		C	9578075	A	C	9578075	3	2	531	1	0	0	0	0	1	0	0	0	17996	359	13	5	828	5	ZNF560	19	9578075	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08		9578075	49550908	78	28434											
EMR3	84658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14755050	14755050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr19:14755050C>T	ENST00000253673.5	-	9	1020	c.920G>A	c.(919-921)tGg>tAg	p.W307*	EMR3_ENST00000599900.1_Nonsense_Mutation_p.W92*|EMR3_ENST00000344373.4_Nonsense_Mutation_p.W255*|EMR3_ENST00000443157.2_Nonsense_Mutation_p.W181*	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	307	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.W307*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TGTGCTCTTCCAGTAGACACA	0.453																																																1	Substitution - Nonsense(1)	kidney(1)											87	78	81					19																	14755050		2203	4300	6503	SO:0001587	stop_gained	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.920G>A	19.37:g.14755050C>T	ENSP00000253673:p.Trp307*			Nonsense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.300073	0.81136	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	.	.	.	3.3	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3895	0.44160	0.0:1.0:0.0:0.0	.	.	.	.	X	181;307;255	.	ENSP00000253673:W307X	W	-	2	0	EMR3	14616050	1.000000	0.71417	0.983000	0.44433	0.155000	0.21991	3.107000	0.50329	1.876000	0.54355	0.639000	0.83563	TGG		0.453	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		T	14755050	C	T	14755050	4	4	531	1	0	0	0	0	0	1	0	0	5108	595	21	2	1070	2	EMR3	19	14755050	Nonsense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	5176975	14755050	44373933	79	28435											
ZNF429	353088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	21719682	21719682	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr19:21719682A>C	ENST00000358491.4	+	4	1035	c.827A>C	c.(826-828)aAg>aCg	p.K276T	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	276				Missing (in Ref. 2; AAP30884 and 3; AAK01422). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K276T(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTACCCATAAGAGAATTCAT	0.373																																																1	Substitution - Missense(1)	kidney(1)											38	42	40					19																	21719682		2122	4272	6394	SO:0001583	missense	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.827A>C	19.37:g.21719682A>C	ENSP00000351280:p.Lys276Thr		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	6.358	0.434176	0.12045	.	.	ENSG00000197013	ENST00000358491	T	0.17854	2.25	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13586	0.0329	L	0.35542	1.07	0.21220	N	0.999755	B	0.29552	0.248	B	0.34093	0.175	T	0.30504	-0.9976	9	0.62326	D	0.03	.	6.7189	0.23318	1.0:0.0:0.0:0.0	.	276	Q86V71	ZN429_HUMAN	T	276	ENSP00000351280:K276T	ENSP00000351280:K276T	K	+	2	0	ZNF429	21511522	0.000000	0.05858	0.017000	0.16124	0.016000	0.09150	0.472000	0.22116	0.251000	0.21505	0.248000	0.18094	AAG		0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		C	21719682	A	C	21719682	3	2	531	1	0	0	0	0	1	0	0	0	17907	72	3	5	841	5	ZNF429	19	21719682	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	6964632	21719682	37409301	80	28436											
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	31767620	31767620	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr19:31767620T>C	ENST00000240587.4	-	2	3406	c.3079A>G	c.(3079-3081)Aaa>Gaa	p.K1027E		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1027					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K1027E(1)|p.K844E(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCACCATTTTTTCTGACGGT	0.498																																																2	Substitution - Missense(2)	kidney(2)											159	135	143					19																	31767620		2203	4300	6503	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.3079A>G	19.37:g.31767620T>C	ENSP00000240587:p.Lys1027Glu		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450247	0.26074	.	.	ENSG00000121297	ENST00000240587	T	0.12147	2.71	5.71	5.71	0.89125	.	0.151082	0.56097	D	0.000021	T	0.17534	0.0421	L	0.54323	1.7	0.53688	D	0.999978	B	0.06786	0.001	B	0.04013	0.001	T	0.01305	-1.1390	10	0.62326	D	0.03	-16.0865	15.9886	0.80183	0.0:0.0:0.0:1.0	.	1027	Q63HK5	TSH3_HUMAN	E	1027	ENSP00000240587:K1027E	ENSP00000240587:K1027E	K	-	1	0	TSHZ3	36459460	1.000000	0.71417	0.981000	0.43875	0.642000	0.38348	7.348000	0.79366	2.173000	0.68751	0.533000	0.62120	AAA		0.498	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		C	31767620	T	C	31767620	3	2	531	1	0	0	0	0	1	0	0	0	16630	1850	64	3	170	3	TSHZ3	19	31767620	Missense_Mutation	SNP	T	TCGA-CJ-4912-01A-01D-1429-08	10047938	31767620	27361363	81	28437											
TMEM149	79713	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36230813	36230813	+	Silent	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr19:36230813C>T	ENST00000592537.1	-	4	619	c.519G>A	c.(517-519)ttG>ttA	p.L173L	IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000246532.1_Silent_p.L173L|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000588992.1_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000587101.1_5'UTR			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L173L(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CTATCACCGCCAAGGTCAGGA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											82	79	80					19																	36230813		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 4", "transmembrane protein 149"	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.519G>A	19.37:g.36230813C>T			Q8N5X0	Silent	SNP	ENST00000592537.1	37	CCDS12472.1																																																																																				0.602	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		T	36230813	C	T	36230813	2	4	531	1	0	0	0	0	0	0	0	1	16067	593	21	2		2	TMEM149	19	36230813	Silent	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	4463193	36230813	22898170	82	28438											
GGN	199720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38876071	38876071	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr19:38876071C>T	ENST00000334928.6	-	3	1963	c.1831G>A	c.(1831-1833)Gtc>Atc	p.V611I	SPRED3_ENST00000587013.1_5'Flank|AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_5'UTR	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	611	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)		p.V611I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGCAGAGACGTTGCGTGGC	0.627																																																1	Substitution - Missense(1)	kidney(1)											48	37	41					19																	38876071		2203	4300	6503	SO:0001583	missense	199720			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1831G>A	19.37:g.38876071C>T	ENSP00000334940:p.Val611Ile		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843468	0.71488	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.57	3.57	0.40892	.	0.000000	0.36893	N	0.002345	T	0.48095	0.1481	L	0.29908	0.895	0.30575	N	0.763108	D	0.69078	0.997	D	0.70716	0.97	T	0.49418	-0.8942	9	0.59425	D	0.04	-7.9647	10.5283	0.44963	0.0:1.0:0.0:0.0	.	611	Q86UU5	GGN_HUMAN	I	611	.	ENSP00000334940:V611I	V	-	1	0	GGN	43567911	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.988000	0.49386	1.813000	0.52934	0.455000	0.32223	GTC		0.627	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		T	38876071	C	T	38876071	3	4	531	1	0	0	0	0	1	0	0	0	6360	536	19	1	135	1	GGN	19	38876071	Missense_Mutation	SNP	C	TCGA-CJ-4912-01A-01D-1429-08	2645258	38876071	20252912	83	28439											
PLAGL2	5326	broad.mit.edu;hgsc.bcm.edu	37	20	30784502	30784502	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr20:30784502G>A	ENST00000246229.4	-	3	1508	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	415					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S415F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGTAGGTGGGAGAAGTCCAC	0.647																																					Colon(163;15 1893 11280 16306 47518)											1	Substitution - Missense(1)	kidney(1)											28	29	29					20																	30784502		2202	4300	6502	SO:0001583	missense	5326				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1244C>T	20.37:g.30784502G>A	ENSP00000246229:p.Ser415Phe		A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469610	0.63625	.	.	ENSG00000126003	ENST00000246229	T	0.15017	2.46	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	L	0.54323	1.7	0.58432	D	0.999998	D	0.65815	0.995	P	0.57911	0.829	T	0.01528	-1.1332	10	0.87932	D	0	.	13.455	0.61193	0.0:0.0:0.8436:0.1564	.	415	Q9UPG8	PLAL2_HUMAN	F	415	ENSP00000246229:S415F	ENSP00000246229:S415F	S	-	2	0	PLAGL2	30248163	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.623000	0.83113	2.590000	0.87494	0.650000	0.86243	TCC		0.647	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		A	30784502	G	A	30784502	3	1	531	1	0	0	0	0	1	0	0	0	12022	1174	41	2	250	2	PLAGL2	20	30784502	Missense_Mutation	SNP	G	TCGA-CJ-4912-01A-01D-1429-08		30784502	32241018	84	28440											
CCDC157	550631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30766638	30766638	+	Silent	SNP	C	C	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr22:30766638C>G	ENST00000405659.1	+	5	1453	c.744C>G	c.(742-744)ccC>ccG	p.P248P	CCDC157_ENST00000338306.3_Silent_p.P248P			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	248								p.P197P(1)|p.P248P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						AGAACCTGCCCTCGTCCTTAG	0.657																																																2	Substitution - coding silent(2)	kidney(2)											74	60	64					22																	30766638		2203	4300	6503	SO:0001819	synonymous_variant	550631			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.744C>G	22.37:g.30766638C>G			Q0VD76|Q9BYA4	Silent	SNP	ENST00000405659.1	37	CCDS33632.2																																																																																				0.657	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		G	30766638	C	G	30766638	2	3	531	1	0	0	0	0	0	0	0	1	2791	668	24	4		4	CCDC157	22	30766638	Silent	SNP	C	TCGA-CJ-4912-01A-01D-1429-08		30766638	20537928	85	28441											
TNRC6B	23112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40662303	40662303	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chr22:40662303A>C	ENST00000454349.2	+	5	2280	c.2069A>C	c.(2068-2070)aAa>aCa	p.K690T	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.K690T	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	690	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ACAGAGTGGAAAGACCCCAAG	0.527																																																0													22	24	23					22																	40662303		1890	4136	6026	SO:0001583	missense	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2069A>C	22.37:g.40662303A>C	ENSP00000401946:p.Lys690Thr		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.45|13.45	2.242207|2.242207	0.39598|0.39598	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000454349;ENST00000400140;ENST00000335727	T|T;T	0.16073|0.13538	2.37|2.58;2.6	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.145914|0.145914	0.64402|0.64402	D|D	0.000010|0.000010	T|T	0.26304|0.26304	0.0642|0.0642	L|L	0.34521|0.34521	1.04|1.04	0.36113|0.36113	D|D	0.844962|0.844962	.|D;P;P	.|0.63880	.|0.993;0.92;0.952	.|D;B;P	.|0.70227	.|0.968;0.438;0.542	T|T	0.15206|0.15206	-1.0445|-1.0445	8|10	0.49607|0.38643	T|T	0.09|0.18	-6.5163|-6.5163	15.4632|15.4632	0.75377|0.75377	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|690;690;690	.|Q9UPQ9;A8MYY3;Q9UPQ9-1	.|TNR6B_HUMAN;.;.	Q|T	433|690	ENSP00000409429:K433Q|ENSP00000401946:K690T;ENSP00000338371:K690T	ENSP00000409429:K433Q|ENSP00000338371:K690T	K|K	+|+	1|2	0|0	TNRC6B|TNRC6B	38992249|38992249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	4.517000|4.517000	0.60503|0.60503	2.069000|2.069000	0.61940|0.61940	0.260000|0.260000	0.18958|0.18958	AAG|AAA		0.527	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				C	40662303	A	C	40662303	3	2	531	1	0	0	0	0	1	0	0	0	16346	14	1	5	2208	5	TNRC6B	22	40662303	Missense_Mutation	SNP	A	TCGA-CJ-4912-01A-01D-1429-08	9895665	40662303	10642263	86	28442											
MAOA	4128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	43571993	43571993	+	Silent	SNP	A	A	G			TCGA-CJ-4912-01A-01D-1429-08	TCGA-CJ-4912-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	894ade93-8feb-4f93-a31a-d9e16eb81743	fa597cce-bae4-49b7-8d02-d00582f821f0	g.chrX:43571993A>G	ENST00000338702.3	+	5	576	c.453A>G	c.(451-453)aaA>aaG	p.K151K	MAOA_ENST00000542639.1_Silent_p.K18K|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	151					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)	p.K151K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	ATGCTGACAAATGGGACAAAA	0.438																																																1	Substitution - coding silent(1)	kidney(1)											114	94	101					X																	43571993		2203	4299	6502	SO:0001819	synonymous_variant	4128				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.453A>G	X.37:g.43571993A>G			B4DF46|Q16426	Silent	SNP	ENST00000338702.3	37	CCDS14260.1																																																																																				0.438	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		G	43571993	A	G	43571993	2	3	531	1	0	0	0	0	0	0	0	1	9227	98	4	3		3	MAOA	23	43571993	Silent	SNP	A	TCGA-CJ-4912-01A-01D-1429-08		43571993	111698567	87	28443											
RPL22	6146	hgsc.bcm.edu	37	1	6246851	6246852	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:6246851_6246852insT	ENST00000234875.4	-	4	305_306	c.267_268insA	c.(265-270)aaatatfs	p.Y90fs	RPL22_ENST00000497965.1_Frame_Shift_Ins_p.Y57fs|RPL22_ENST00000484532.1_Intron	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	90					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K89fs*3(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTCTTCAAATATTTTTTGGTGA	0.366			T	RUNX1	"AML, CML"																																		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	6146			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"L ribosomal proteins"	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.268dupA	1.37:g.6246857_6246857dupT	ENSP00000346088:p.Tyr90fs		B2R495|Q6IBD1	Frame_Shift_Ins	INS	ENST00000234875.4	37	CCDS58.1																																																																																				0.366	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983		T	6246852	-	T	6246851	7	5	532	1	0	1	1	0	0	0	0	0	13574	449	16	0	122	0	RPL22	1	6246851	Frame_Shift_Ins	INS	-	TCGA-CJ-4913-01A-01D-1429-08		6246851	243003770	1	28444											
PGD	5226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10477169	10477169	+	Silent	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:10477169C>A	ENST00000270776.8	+	9	1008	c.970C>A	c.(970-972)Cgg>Agg	p.R324R	PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Silent_p.R302R|PGD_ENST00000538557.1_Silent_p.R311R	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	324					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.R324R(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	GGAGGACATTCGGAAGGTGGG	0.527																																																1	Substitution - coding silent(1)	kidney(1)											109	109	109					1																	10477169		2203	4300	6503	SO:0001819	synonymous_variant	5226			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.970C>A	1.37:g.10477169C>A			A8K2Y9|B4DQJ8|Q9BWD8	Silent	SNP	ENST00000270776.8	37	CCDS113.1																																																																																				0.527	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		A	10477169	C	A	10477169	2	1	532	1	0	0	0	0	0	0	0	1	11789	875	31	4		4	PGD	1	10477169	Silent	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	4230318	10477169	238773452	2	28445											
CELA3B	23436	broad.mit.edu	37	1	22310726	22310726	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:22310726G>A	ENST00000337107.6	+	6	563	c.544G>A	c.(544-546)Gtg>Atg	p.V182M		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	182	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.V182M(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CCTGCTGCCGGTGGTGGACTA	0.627																																																1	Substitution - Missense(1)	kidney(1)											82	79	80					1																	22310726		2203	4300	6503	SO:0001583	missense	23436			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"proteinase E", "elastase 1", "cholesterol-binding pancreatic protease", "pancreatic endopeptidase E"		"elastase 3B, pancreatic"	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.544G>A	1.37:g.22310726G>A	ENSP00000338369:p.Val182Met		B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	CCDS219.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374955	0.61735	.	.	ENSG00000219073	ENST00000337107;ENST00000400277	D;D	0.90563	-2.69;-2.69	4.53	4.53	0.55603	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.94522	0.8236	M	0.75150	2.29	0.58432	D	0.999992	D	0.61080	0.989	D	0.68943	0.961	D	0.95178	0.8296	10	0.87932	D	0	-19.876	15.0932	0.72211	0.0:0.0:1.0:0.0	.	182	P08861	CEL3B_HUMAN	M	182;85	ENSP00000338369:V182M;ENSP00000383135:V85M	ENSP00000338369:V182M	V	+	1	0	CELA3B	22183313	1.000000	0.71417	0.976000	0.42696	0.313000	0.28021	5.358000	0.66064	2.232000	0.73038	0.650000	0.86243	GTG		0.627	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		A	22310726	G	A	22310726	3	1	532	1	0	0	0	0	1	0	0	0	3216	1261	44	2	566	2	CELA3B	1	22310726	Missense_Mutation	SNP	G	TCGA-CJ-4913-01A-01D-1429-08	11833557	22310726	226939895	3	28446											
SLC44A5	204962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	75708659	75708659	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:75708659T>C	ENST00000370855.5	-	8	496	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	SLC44A5_ENST00000370859.3_Missense_Mutation_p.Y128C|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	128					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y128C(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CATTTCCACATAGGTTAAAAA	0.403																																																1	Substitution - Missense(1)	kidney(1)											111	114	113					1																	75708659		2202	4300	6502	SO:0001583	missense	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.383A>G	1.37:g.75708659T>C	ENSP00000359892:p.Tyr128Cys		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516655	0.64634	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535790	T;T	0.16743	2.32;2.32	5.07	3.87	0.44632	.	0.201598	0.44285	D	0.000477	T	0.31513	0.0799	M	0.84511	2.7	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.993;0.993;0.998;0.996	P;P;P;D;D	0.67382	0.894;0.848;0.894;0.951;0.927	T	0.09997	-1.0649	10	0.48119	T	0.1	-15.8839	10.8497	0.46763	0.1409:0.0:0.0:0.8591	.	122;167;128;128;167	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	C	128;167;128;121	ENSP00000359896:Y128C;ENSP00000359892:Y128C	ENSP00000359892:Y128C	Y	-	2	0	SLC44A5	75481247	0.997000	0.39634	0.889000	0.34880	0.680000	0.39746	2.671000	0.46842	2.028000	0.59812	0.533000	0.62120	TAT		0.403	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		C	75708659	T	C	75708659	3	2	532	1	0	0	0	0	1	0	0	0	14645	1406	49	3	1955	3	SLC44A5	1	75708659	Missense_Mutation	SNP	T	TCGA-CJ-4913-01A-01D-1429-08	53397933	75708659	173541962	4	28447											
TAF5L	27097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	229730773	229730773	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:229730773G>C	ENST00000366676.1	-	4	1040	c.1041C>G	c.(1039-1041)agC>agG	p.S347R	TAF5L_ENST00000258281.2_Missense_Mutation_p.S347R			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	347					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S347R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGAACCTCGTGCTGTACACTG	0.537																																																1	Substitution - Missense(1)	kidney(1)											107	96	100					1																	229730773		2203	4300	6503	SO:0001583	missense	27097			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1041C>G	1.37:g.229730773G>C	ENSP00000355636:p.Ser347Arg		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	G	9.517	1.107337	0.20714	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.65732	-0.17;-0.17	5.88	2.48	0.30137	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.201698	0.64402	N	0.000013	T	0.56891	0.2016	M	0.74647	2.275	0.34059	D	0.65701	B	0.09022	0.002	B	0.12156	0.007	T	0.60342	-0.7282	10	0.39692	T	0.17	-13.9309	6.9522	0.24552	0.1489:0.0:0.5842:0.2669	.	347	O75529	TAF5L_HUMAN	R	347	ENSP00000355636:S347R;ENSP00000258281:S347R	ENSP00000258281:S347R	S	-	3	2	TAF5L	227797396	1.000000	0.71417	0.995000	0.50966	0.897000	0.52465	3.279000	0.51670	0.773000	0.33404	0.655000	0.94253	AGC		0.537	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		C	229730773	G	C	229730773	3	2	532	1	0	0	0	0	1	0	0	0	15534	1310	46	4	732	4	TAF5L	1	229730773	Missense_Mutation	SNP	G	TCGA-CJ-4913-01A-01D-1429-08	154022114	229730773	19519848	5	28448											
LPIN1	23175	broad.mit.edu;hgsc.bcm.edu	37	2	11911528	11911528	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr2:11911528C>T	ENST00000256720.2	+	4	412	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	LPIN1_ENST00000396099.1_Missense_Mutation_p.P113S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P156S|LPIN1_ENST00000396098.1_Missense_Mutation_p.P113S|LPIN1_ENST00000425416.2_Missense_Mutation_p.P113S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	107	N-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.P107S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGCCACCTCCCCCATCCTGTC	0.517																																																1	Substitution - Missense(1)	kidney(1)											61	66	64					2																	11911528		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.319C>T	2.37:g.11911528C>T	ENSP00000256720:p.Pro107Ser		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160874	0.94727	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.8	5.8	0.92144	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.998;0.99;0.999	D;D;D	0.79108	0.954;0.943;0.992	D	0.89715	0.3915	10	0.62326	D	0.03	-22.2671	20.0609	0.97674	0.0:1.0:0.0:0.0	.	156;107;113	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	S	156;113;113;113;107	ENSP00000397908:P156S;ENSP00000379405:P113S;ENSP00000379406:P113S;ENSP00000401522:P113S;ENSP00000256720:P107S	ENSP00000256720:P107S	P	+	1	0	LPIN1	11828979	1.000000	0.71417	0.998000	0.56505	0.806000	0.45545	7.395000	0.79876	2.755000	0.94549	0.655000	0.94253	CCC		0.517	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		T	11911528	C	T	11911528	3	4	532	1	0	0	0	0	1	0	0	0	8920	623	22	2	329	2	LPIN1	2	11911528	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08		11911528	231287845	6	28449											
MRPS5	64969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	95780928	95780928	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr2:95780928T>C	ENST00000272418.2	-	3	368	c.160A>G	c.(160-162)Acc>Gcc	p.T54A	MRPS5_ENST00000475040.1_5'UTR	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	54					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.T54A(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GTGTCTCTGGTTCCCAGTGAT	0.463											OREG0014795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											167	149	156					2																	95780928		2203	4300	6503	SO:0001583	missense	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.160A>G	2.37:g.95780928T>C	ENSP00000272418:p.Thr54Ala	1315	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844714	0.32606	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.08	-9.34	0.00636	.	1.008280	0.07952	N	0.980984	T	0.21307	0.0513	L	0.35288	1.05	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.13229	-1.0517	9	0.25751	T	0.34	-2.1524	3.6533	0.08212	0.1106:0.366:0.3389:0.1846	.	54;54	B4DIW8;P82675	.;RT05_HUMAN	A	54	.	ENSP00000272418:T54A	T	-	1	0	MRPS5	95144655	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.199000	0.03032	-1.650000	0.01506	0.460000	0.39030	ACC		0.463	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		C	95780928	T	C	95780928	3	2	532	1	0	0	0	0	1	0	0	0	9848	1725	60	3	1172	3	MRPS5	2	95780928	Missense_Mutation	SNP	T	TCGA-CJ-4913-01A-01D-1429-08	83869400	95780928	147418445	7	28450											
RNPEPL1	57140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	241516160	241516160	+	Silent	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr2:241516160G>A	ENST00000270357.4	+	9	1619	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	342					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L342L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ACCGGCTCCTGGATGGGTCCC	0.692																																																1	Substitution - coding silent(1)	kidney(1)											27	32	30					2																	241516160		2197	4286	6483	SO:0001819	synonymous_variant	57140					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1026G>A	2.37:g.241516160G>A			Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Silent	SNP	ENST00000270357.4	37																																																																																					0.692	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		A	241516160	G	A	241516160	2	1	532	1	0	0	0	0	0	0	0	1	13516	1335	47	2		2	RNPEPL1	2	241516160	Silent	SNP	G	TCGA-CJ-4913-01A-01D-1429-08	145735232	241516160	1683213	8	28451											
COL7A1	1294	broad.mit.edu	37	3	48612153	48612153	+	Splice_Site	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr3:48612153C>A	ENST00000328333.8	-	77	6457	c.6350G>T	c.(6349-6351)gGg>gTg	p.G2117V	COL7A1_ENST00000454817.1_Splice_Site_p.G2085V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2117	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2117V(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCCGGCTCCCCCTGTGGGGA	0.607																																																1	Substitution - Missense(1)	kidney(1)											62	63	63					3																	48612153		2203	4299	6502	SO:0001630	splice_region_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6349-1G>T	3.37:g.48612153C>A			Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433524	0.43224	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99353	-5.77;-5.77	5.29	5.29	0.74685	.	0.000000	0.41097	D	0.000952	D	0.99670	0.9877	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97472	1.0041	10	0.72032	D	0.01	.	17.9122	0.88937	0.0:1.0:0.0:0.0	.	2117	Q02388	CO7A1_HUMAN	V	2117;2085	ENSP00000332371:G2117V;ENSP00000412569:G2085V	ENSP00000332371:G2117V	G	-	2	0	COL7A1	48587157	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.307000	0.72815	2.456000	0.83038	0.462000	0.41574	GGG		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Missense_Mutation	A	48612153	C	A	48612153	5	1	532	1	0	0	0	0	0	0	1	0	3706	637	22	4	2652	4	COL7A1	3	48612153	Splice_Site	SNP	C	TCGA-CJ-4913-01A-01D-1429-08		48612153	149410277	9	28452											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52621446	52621446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr3:52621446C>A	ENST00000296302.7	-	19	3047	c.3046G>T	c.(3046-3048)Gaa>Taa	p.E1016*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E1031*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E1016*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E1016*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E991*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E991*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E984*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E1031*			Q86U86	PB1_HUMAN	polybromo 1	1016	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E1016*(2)|p.E984delE(1)|p.E984*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTAAAAACTTCTTTTTCTAGA	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	4	Substitution - Nonsense(3)|Deletion - In frame(1)	kidney(3)|prostate(1)											79	82	81					3																	52621446		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3046G>T	3.37:g.52621446C>A	ENSP00000296302:p.Glu1016*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	41	8.741481	0.98935	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.2576	20.3081	0.98638	0.0:1.0:0.0:0.0	.	.	.	.	X	984;991;1016;1016;1016;991;1031;1031;1015;974	.	ENSP00000296302:E1016X	E	-	1	0	PBRM1	52596486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.795000	0.96236	0.655000	0.94253	GAA		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52621446	C	A	52621446	4	1	532	1	0	0	0	0	0	1	0	0	11493	922	32	4	1902	4	PBRM1	3	52621446	Nonsense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	4009293	52621446	145400984	10	28453											
TFDP2	7029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141692908	141692908	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr3:141692908C>G	ENST00000489671.1	-	8	1075	c.645G>C	c.(643-645)caG>caC	p.Q215H	TFDP2_ENST00000486111.1_Missense_Mutation_p.Q155H|TFDP2_ENST00000310282.6_Missense_Mutation_p.Q155H|TFDP2_ENST00000479040.1_Missense_Mutation_p.Q154H|TFDP2_ENST00000477292.1_Missense_Mutation_p.Q79H|TFDP2_ENST00000495310.1_Missense_Mutation_p.Q118H|TFDP2_ENST00000499676.2_Missense_Mutation_p.Q155H|TFDP2_ENST00000467072.1_Missense_Mutation_p.Q155H|TFDP2_ENST00000397991.4_Missense_Mutation_p.Q187H|TFDP2_ENST00000317104.7_Missense_Mutation_p.Q139H			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	215					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.Q215H(1)		kidney(1)|upper_aerodigestive_tract(2)	3						TCTGACATTCCTGAGCAGAAT	0.318																																																1	Substitution - Missense(1)	kidney(1)											90	84	86					3																	141692908		1848	4123	5971	SO:0001583	missense	7029			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.645G>C	3.37:g.141692908C>G	ENSP00000420616:p.Gln215His		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468579	0.63625	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000478006;ENST00000497579	T;T;T;T;T;T;T;T;T;T;T;T	0.51325	1.69;1.65;1.69;0.74;0.71;1.69;1.71;1.69;1.69;1.67;1.37;1.37	5.77	4.79	0.61399	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor DP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.989	D;D;D	0.79784	0.993;0.993;0.976	T	0.78109	-0.2332	10	0.87932	D	0	-5.3515	13.299	0.60313	0.0:0.8967:0.0:0.1033	.	118;215;155	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	H	155;215;155;79;118;155;139;155;154;187;155;129;154	ENSP00000439782:Q155H;ENSP00000420616:Q215H;ENSP00000420599:Q155H;ENSP00000418971:Q79H;ENSP00000419036:Q118H;ENSP00000418590:Q155H;ENSP00000315668:Q139H;ENSP00000309622:Q155H;ENSP00000417585:Q154H;ENSP00000381078:Q187H;ENSP00000417726:Q155H;ENSP00000417220:Q154H	ENSP00000309622:Q155H	Q	-	3	2	TFDP2	143175598	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.642000	0.24735	2.720000	0.93068	0.557000	0.71058	CAG		0.318	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		G	141692908	C	G	141692908	3	3	532	1	0	0	0	0	1	0	0	0	15803	680	24	4	719	4	TFDP2	3	141692908	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	89071462	141692908	56329522	11	28454											
D4S234E	27065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	4389419	4389419	+	Silent	SNP	C	C	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr4:4389419C>G	ENST00000421177.2	+	6	2054	c.63C>G	c.(61-63)ggC>ggG	p.G21G	NSG1_ENST00000505246.1_Silent_p.G21G|NSG1_ENST00000506380.1_Silent_p.G21G|NSG1_ENST00000433139.2_Silent_p.G21G|NSG1_ENST00000397958.1_Silent_p.G21G|NSG1_ENST00000504171.1_Silent_p.G21G|NSG1_ENST00000513555.1_Silent_p.G21G			P42857	NSG1_HUMAN		21					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G21G(1)									TGGAGGATGGCTTCGACACCA	0.642																																																1	Substitution - coding silent(1)	kidney(1)											80	75	77					4																	4389419		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000421177.2:c.63C>G	4.37:g.4389419C>G			B4DXC5|Q49AQ1	Silent	SNP	ENST00000421177.2	37	CCDS3376.1																																																																																				0.642	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			G	4389419	C	G	4389419	2	3	532	1	0	0	0	0	0	0	0	1	4216	784	28	4		4	D4S234E	4	4389419	Silent	SNP	C	TCGA-CJ-4913-01A-01D-1429-08		4389419	186764857	12	28455											
FBXO38	81545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	147778625	147778625	+	Silent	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr5:147778625G>A	ENST00000340253.5	+	3	360	c.192G>A	c.(190-192)gtG>gtA	p.V64V	FBXO38_ENST00000513826.1_Silent_p.V64V|FBXO38_ENST00000394370.3_Silent_p.V64V|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Silent_p.V64V			Q6PIJ6	FBX38_HUMAN	F-box protein 38	64	F-box.|Interaction with KLF7. {ECO:0000250}.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V64V(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAGCAGTGACCCTATATC	0.453																																																1	Substitution - coding silent(1)	kidney(1)											236	218	224					5																	147778625		2203	4300	6503	SO:0001819	synonymous_variant	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.192G>A	5.37:g.147778625G>A			Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37																																																																																					0.453	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		A	147778625	G	A	147778625	2	1	532	1	0	0	0	0	0	0	0	1	5748	1277	45	2		2	FBXO38	5	147778625	Silent	SNP	G	TCGA-CJ-4913-01A-01D-1429-08		147778625	33136635	13	28456											
OR5V1	81696	broad.mit.edu;hgsc.bcm.edu	37	6	29323588	29323588	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr6:29323588G>A	ENST00000377154.1	-	4	684	c.385C>T	c.(385-387)Cct>Tct	p.P129S	OR5V1_ENST00000543825.1_Missense_Mutation_p.P129S			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P129S(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACCTTAAAGGATTGCAGATT	0.428																																					Ovarian(32;43 883 21137 32120 42650)											1	Substitution - Missense(1)	kidney(1)											74	75	75					6																	29323588		2203	4299	6502	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.385C>T	6.37:g.29323588G>A	ENSP00000366359:p.Pro129Ser		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594037	0.66219	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.01838	4.61;4.61	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.260548	0.20411	N	0.092847	T	0.15565	0.0375	H	0.95950	3.745	0.52099	D	0.999949	D	0.89917	1.0	D	0.87578	0.998	T	0.12656	-1.0539	10	0.72032	D	0.01	-53.1172	17.0395	0.86484	0.0:0.0:1.0:0.0	.	129	Q9UGF6	OR5V1_HUMAN	S	129	ENSP00000366359:P129S;ENSP00000443309:P129S	ENSP00000366356:P129S	P	-	1	0	OR5V1	29431567	1.000000	0.71417	0.096000	0.21009	0.510000	0.34073	6.720000	0.74723	2.422000	0.82143	0.543000	0.68304	CCT		0.428	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			A	29323588	G	A	29323588	3	1	532	1	0	0	0	0	1	0	0	0	11186	1174	41	2	583	2	OR5V1	6	29323588	Missense_Mutation	SNP	G	TCGA-CJ-4913-01A-01D-1429-08		29323588	141791479	14	28457											
DAXX	1616	broad.mit.edu;ucsc.edu	37	6	33289504	33289504	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr6:33289504A>T	ENST00000374542.5	-	2	403	c.199T>A	c.(199-201)Ttc>Atc	p.F67I	DAXX_ENST00000266000.6_Missense_Mutation_p.F67I|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	67	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.F67I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ACCTCTTCGAACAGCTTCTCA	0.572			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	1	Substitution - Missense(1)	kidney(1)											237	243	241					6																	33289504		2203	4300	6503	SO:0001583	missense	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.199T>A	6.37:g.33289504A>T	ENSP00000363668:p.Phe67Ile		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664045	0.47572	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407	.	.	.	5.12	3.94	0.45596	.	0.055856	0.64402	N	0.000001	T	0.33644	0.0870	L	0.48642	1.525	0.80722	D	1	B;B	0.26120	0.142;0.142	B;B	0.29598	0.104;0.104	T	0.36065	-0.9763	9	0.72032	D	0.01	-7.2606	8.1038	0.30874	0.8207:0.0:0.0:0.1793	.	79;67	B4E1C1;Q9UER7	.;DAXX_HUMAN	I	67	.	ENSP00000266000:F67I	F	-	1	0	DAXX	33397482	1.000000	0.71417	0.984000	0.44739	0.302000	0.27658	4.661000	0.61518	0.954000	0.37851	0.448000	0.29417	TTC		0.572	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			T	33289504	A	T	33289504	3	4	532	1	0	0	0	0	1	0	0	0	4245	43	2	5	2051	5	DAXX	6	33289504	Missense_Mutation	SNP	A	TCGA-CJ-4913-01A-01D-1429-08	3965916	33289504	137825563	15	28458											
BACH2	60468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90647879	90647879	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr6:90647879C>T	ENST00000257749.4	-	8	2734	c.2027G>A	c.(2026-2028)tGt>tAt	p.C676Y	BACH2_ENST00000537989.1_Missense_Mutation_p.C676Y|BACH2_ENST00000343122.3_Missense_Mutation_p.C676Y	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	676	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.C676Y(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GCGGATTTCACATTCTAAATT	0.458																																																2	Substitution - Missense(2)	kidney(2)											100	103	102					6																	90647879		2203	4300	6503	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2027G>A	6.37:g.90647879C>T	ENSP00000257749:p.Cys676Tyr		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933340	0.73442	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	D;D;D	0.91180	-2.8;-2.8;-2.8	4.76	4.76	0.60689	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.047335	0.85682	D	0.000000	D	0.85461	0.5702	N	0.19112	0.55	0.53005	D	0.999965	D	0.71674	0.998	D	0.66196	0.942	T	0.82778	-0.0289	10	0.02654	T	1	-19.7125	17.9652	0.89098	0.0:1.0:0.0:0.0	.	676	Q9BYV9	BACH2_HUMAN	Y	676	ENSP00000257749:C676Y;ENSP00000437473:C676Y;ENSP00000345642:C676Y	ENSP00000257749:C676Y	C	-	2	0	BACH2	90704600	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.827000	0.69300	2.470000	0.83445	0.563000	0.77884	TGT		0.458	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		T	90647879	C	T	90647879	3	4	532	1	0	0	0	0	1	0	0	0	1284	478	17	2	506	2	BACH2	6	90647879	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	57358375	90647879	80467188	16	28459											
LOC402644	0	broad.mit.edu	37	7	28319099	28319099	+	IGR	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr7:28319099C>T								JAZF1-AS1 (35563 upstream) : CREB5 (19840 downstream)																							GACTTGCCACCAGTGCCATTA	0.453																																																0													18	17	18					7																	28319099		692	1591	2283	SO:0001628	intergenic_variant	402644																															7.37:g.28319099C>T				Missense_Mutation	SNP		37																																																																																				0	0.453									T	28319099	C	T	28319099	1	4	532	0	1	0	0	0	0	0	0	0	8880	594	21	2		2	LOC402644	7	28319099	IGR	SNP	C	TCGA-CJ-4913-01A-01D-1429-08		28319099	130819564	17	28460											
ZAN	7455	broad.mit.edu	37	7	100395076	100395076	+	RNA	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr7:100395076G>A	ENST00000348028.3	+	0	8246				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2693T(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTTACAGAACGAGGAGGAAGA	0.617																																																1	Substitution - coding silent(1)	kidney(1)											77	72	73					7																	100395076		1984	4150	6134			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100395076G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37																																																																																					0.617	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		A	100395076	G	A	100395076	1	1	532	0	1	0	0	0	0	0	0	0	17518	1045	37	1		1	ZAN	7	100395076	RNA	SNP	G	TCGA-CJ-4913-01A-01D-1429-08	72075977	100395076	58743587	18	28461											
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121651006	121651006	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr7:121651006T>A	ENST00000393386.2	+	12	2317	c.1906T>A	c.(1906-1908)Tca>Aca	p.S636T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S636T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	636					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S636T(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGATTCAACTTCATCAGGTTC	0.418																																																2	Substitution - Missense(2)	kidney(2)											59	57	58					7																	121651006		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1906T>A	7.37:g.121651006T>A	ENSP00000377047:p.Ser636Thr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	0.277	-0.989079	0.02162	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.46063	0.89;0.88	5.65	3.19	0.36642	.	0.738507	0.12580	N	0.456487	T	0.22166	0.0534	N	0.20530	0.585	0.09310	N	1	B;B;B	0.15473	0.0;0.0;0.013	B;B;B	0.08055	0.003;0.001;0.003	T	0.14727	-1.0462	10	0.30078	T	0.28	.	0.7984	0.01070	0.1577:0.2066:0.1635:0.4721	.	636;636;636	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	T	636	ENSP00000377047:S636T;ENSP00000410000:S636T	ENSP00000377047:S636T	S	+	1	0	PTPRZ1	121438242	0.000000	0.05858	0.044000	0.18714	0.505000	0.33919	-0.063000	0.11655	0.985000	0.38656	0.533000	0.62120	TCA		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		A	121651006	T	A	121651006	3	1	532	1	0	0	0	0	1	0	0	0	12820	1783	62	5	1952	5	PTPRZ1	7	121651006	Missense_Mutation	SNP	T	TCGA-CJ-4913-01A-01D-1429-08	21255930	121651006	37487657	19	28462			1	45		2	2	18	N	T_A	3.130125e-05
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121651023	121651023	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr7:121651023A>T	ENST00000393386.2	+	12	2334	c.1923A>T	c.(1921-1923)gaA>gaT	p.E641D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E641D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	641					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E641D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTTCAGAAGAATCACTAAAGG	0.428																																																2	Substitution - Missense(2)	kidney(2)											62	59	60					7																	121651023		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1923A>T	7.37:g.121651023A>T	ENSP00000377047:p.Glu641Asp		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.313959	0.23908	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.46819	0.88;0.86	5.87	-6.09	0.02145	.	0.382800	0.25329	N	0.031460	T	0.23210	0.0561	L	0.40543	1.245	0.21473	N	0.999677	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.12156	0.004;0.001;0.007	T	0.14643	-1.0465	10	0.19147	T	0.46	.	0.4777	0.00542	0.2203:0.2329:0.1713:0.3755	.	641;641;641	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	D	641	ENSP00000377047:E641D;ENSP00000410000:E641D	ENSP00000377047:E641D	E	+	3	2	PTPRZ1	121438259	0.000000	0.05858	0.876000	0.34364	0.940000	0.58332	-2.420000	0.01032	-0.533000	0.06323	0.533000	0.62120	GAA		0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121651023	A	T	121651023	3	4	532	1	0	0	0	0	1	0	0	0	12820	98	4	5	1969	5	PTPRZ1	7	121651023	Missense_Mutation	SNP	A	TCGA-CJ-4913-01A-01D-1429-08	17	121651023	37487640	20	28463			1	45		2	2	18	N	T_A	3.130125e-05
CASP2	835	broad.mit.edu;ucsc.edu	37	7	143000899	143000899	+	Missense_Mutation	SNP	C	C	A	rs145619760		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr7:143000899C>A	ENST00000310447.5	+	9	1231	c.990C>A	c.(988-990)gaC>gaA	p.D330E	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	330					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.D330E(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GTGGGGTTGACCAACAAGATG	0.522																																																1	Substitution - Missense(1)	kidney(1)											102	87	92					7																	143000899		2203	4300	6503	SO:0001583	missense	835			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1503	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 57"	600639	"neural precursor cell expressed, developmentally down-regulated 2"	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.990C>A	7.37:g.143000899C>A	ENSP00000312664:p.Asp330Glu		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140317	0.21205	.	.	ENSG00000106144	ENST00000310447	T	0.19806	2.12	5.81	3.96	0.45880	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.041485	0.85682	D	0.000000	T	0.11707	0.0285	N	0.11673	0.155	0.80722	D	1	B	0.34372	0.451	B	0.38327	0.271	T	0.22034	-1.0228	10	0.22109	T	0.4	.	8.7256	0.34467	0.0:0.6763:0.0:0.3237	.	330	P42575	CASP2_HUMAN	E	330	ENSP00000312664:D330E	ENSP00000312664:D330E	D	+	3	2	CASP2	142711021	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	1.862000	0.39448	0.730000	0.32425	-0.212000	0.12691	GAC		0.522	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		A	143000899	C	A	143000899	3	1	532	1	0	0	0	0	1	0	0	0	2673	506	18	4	1024	4	CASP2	7	143000899	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	21349876	143000899	16137764	21	28464											
AGPAT5	55326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	6612685	6612685	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr8:6612685A>G	ENST00000285518.6	+	7	1171	c.859A>G	c.(859-861)Atc>Gtc	p.I287V	AGPAT5_ENST00000530716.1_3'UTR	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	287					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.I287V(1)	AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		ACGTTTCGAAATCAAAGATAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											84	69	74					8																	6612685		2203	4300	6503	SO:0001583	missense	55326			AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20886	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, epsilon"	614796	"1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.859A>G	8.37:g.6612685A>G	ENSP00000285518:p.Ile287Val		Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569688	0.28003	.	.	ENSG00000155189	ENST00000285518	T	0.41065	1.01	5.81	5.81	0.92471	.	0.046101	0.85682	D	0.000000	T	0.34106	0.0886	L	0.43923	1.385	0.49798	D	0.999827	B	0.14012	0.009	B	0.12156	0.007	T	0.16897	-1.0387	10	0.44086	T	0.13	-27.1511	8.6283	0.33904	0.9157:0.0:0.0843:0.0	.	287	Q9NUQ2	PLCE_HUMAN	V	287	ENSP00000285518:I287V	ENSP00000285518:I287V	I	+	1	0	AGPAT5	6600093	1.000000	0.71417	0.992000	0.48379	0.943000	0.58893	3.374000	0.52402	2.217000	0.71921	0.482000	0.46254	ATC		0.353	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		G	6612685	A	G	6612685	3	3	532	1	0	0	0	0	1	0	0	0	390	101	4	3	885	3	AGPAT5	8	6612685	Missense_Mutation	SNP	A	TCGA-CJ-4913-01A-01D-1429-08		6612685	139751337	22	28465											
ZNF395	55893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28209116	28209116	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr8:28209116A>T	ENST00000344423.5	-	7	1260	c.1129T>A	c.(1129-1131)Tcc>Acc	p.S377T	ZNF395_ENST00000523202.1_Missense_Mutation_p.S377T|ZNF395_ENST00000523095.1_Missense_Mutation_p.S377T	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S377T(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TCTGGGCCGGAGGACTGGGCT	0.637																																																1	Substitution - Missense(1)	kidney(1)											65	74	71					8																	28209116		2203	4300	6503	SO:0001583	missense	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1129T>A	8.37:g.28209116A>T	ENSP00000340494:p.Ser377Thr		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	A	1.618	-0.522364	0.04141	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.45668	0.89;0.89;0.89	4.99	2.56	0.30785	.	0.864008	0.10551	N	0.661434	T	0.31009	0.0783	L	0.46157	1.445	0.38304	D	0.943072	B	0.16396	0.017	B	0.10450	0.005	T	0.16217	-1.0410	10	0.24483	T	0.36	-7.7505	3.0715	0.06233	0.6367:0.0:0.1858:0.1775	.	377	Q9H8N7	ZN395_HUMAN	T	377	ENSP00000340494:S377T;ENSP00000429640:S377T;ENSP00000428452:S377T	ENSP00000340494:S377T	S	-	1	0	ZNF395	28265035	0.008000	0.16893	0.013000	0.15412	0.032000	0.12392	0.480000	0.22244	0.368000	0.24481	0.533000	0.62120	TCC		0.637	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			T	28209116	A	T	28209116	3	4	532	1	0	0	0	0	1	0	0	0	17886	304	11	5	428	5	ZNF395	8	28209116	Missense_Mutation	SNP	A	TCGA-CJ-4913-01A-01D-1429-08	21596431	28209116	118154906	23	28466											
RANBP6	26953	hgsc.bcm.edu;ucsc.edu	37	9	6014830	6014830	+	Missense_Mutation	SNP	C	C	T	rs530947222		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr9:6014830C>T	ENST00000259569.5	-	1	788	c.778G>A	c.(778-780)Ggt>Agt	p.G260S	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	260					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G260S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AAATAAGGACCCAAGTACTTA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		21871	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											83	82	82					9																	6014830		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.778G>A	9.37:g.6014830C>T	ENSP00000259569:p.Gly260Ser		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116609	0.37339	.	.	ENSG00000137040	ENST00000259569	T	0.22134	1.97	4.54	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.050307	0.85682	D	0.000000	T	0.09024	0.0223	N	0.08118	0	0.29916	N	0.823164	B	0.11235	0.004	B	0.06405	0.002	T	0.14062	-1.0486	10	0.23302	T	0.38	-11.7056	6.3697	0.21475	0.0:0.6982:0.204:0.0977	.	260	O60518	RNBP6_HUMAN	S	260	ENSP00000259569:G260S	ENSP00000259569:G260S	G	-	1	0	RANBP6	6004830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.668000	0.54554	1.495000	0.48549	0.655000	0.94253	GGT		0.443	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		T	6014830	C	T	6014830	3	4	532	1	0	0	0	0	1	0	0	0	13037	623	22	2	2543	2	RANBP6	9	6014830	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08		6014830	135198601	24	28467											
SEC16A	9919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139369367	139369367	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr9:139369367T>A	ENST00000371706.3	-	1	2200	c.2167A>T	c.(2167-2169)Agt>Tgt	p.S723C	SEC16A_ENST00000313050.7_Missense_Mutation_p.S901C|SEC16A_ENST00000290037.6_Missense_Mutation_p.S723C|SEC16A_ENST00000431893.2_Missense_Mutation_p.S723C			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	723					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.S901C(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGGGCAACACTGCTAGGCAGA	0.502																																																2	Substitution - Missense(2)	kidney(2)											55	56	55					9																	139369367		1963	4155	6118	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2167A>T	9.37:g.139369367T>A	ENSP00000360771:p.Ser723Cys		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	T	16.94	3.260877	0.59431	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.26660	1.79;1.72;1.73;1.73	5.35	-1.54	0.08584	.	1.232250	0.05063	N	0.480132	T	0.22399	0.0540	L	0.54323	1.7	0.09310	N	1	B;B;B	0.21071	0.03;0.051;0.051	B;B;B	0.19391	0.011;0.025;0.025	T	0.36187	-0.9758	10	0.56958	D	0.05	-0.4117	2.3371	0.04251	0.2331:0.0684:0.258:0.4405	.	901;723;723	F1T0I1;O15027-5;O15027-4	.;.;.	C	901;723;723;723	ENSP00000325827:S901C;ENSP00000360771:S723C;ENSP00000290037:S723C;ENSP00000387583:S723C	ENSP00000290037:S723C	S	-	1	0	SEC16A	138489188	0.000000	0.05858	0.000000	0.03702	0.440000	0.31957	0.181000	0.16880	-0.186000	0.10533	0.533000	0.62120	AGT		0.502	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		A	139369367	T	A	139369367	3	1	532	1	0	0	0	0	1	0	0	0	13992	1580	55	5	4492	5	SEC16A	9	139369367	Missense_Mutation	SNP	T	TCGA-CJ-4913-01A-01D-1429-08	133354537	139369367	1844064	25	28468											
PLAU	414236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75675037	75675037	+	Intron	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr10:75675037A>T	ENST00000409178.1	-	2	268				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.K297N|PLAU_ENST00000372764.3_Missense_Mutation_p.K333N|PLAU_ENST00000446342.1_Missense_Mutation_p.K316N	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.K333N(1)		endometrium(1)	1	Prostate(51;0.0112)					AGCAGCTGAAAATGACTGTTG	0.527																																																1	Substitution - Missense(1)	kidney(1)											103	102	102					10																	75675037		2203	4300	6503	SO:0001627	intron_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.72+1239T>A	10.37:g.75675037A>T			Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432951	0.83776	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.89270	-2.49;-2.49;-2.49	5.74	4.61	0.57282	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.047215	0.85682	D	0.000000	D	0.90212	0.6940	L	0.35644	1.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.992	D;D;D;D	0.97110	1.0;1.0;1.0;0.937	D	0.89549	0.3798	10	0.72032	D	0.01	.	8.2987	0.32001	0.911:0.0:0.089:0.0	.	316;297;333;333	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	N	316;333;297;297	ENSP00000388474:K316N;ENSP00000361850:K333N;ENSP00000361848:K297N	ENSP00000361847:K297N	K	+	3	2	PLAU	75345043	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.736000	0.26130	1.013000	0.39391	0.533000	0.62120	AAA		0.527	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		T	75675037	A	T	75675037	1	4	532	0	1	0	0	0	0	0	0	0	12024	11	1	5		5	PLAU	10	75675037	Intron	SNP	A	TCGA-CJ-4913-01A-01D-1429-08		75675037	59859710	26	28469											
C10orf91	170393	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	134261287	134261287	+	Silent	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr10:134261287C>T	ENST00000392630.3	+	3	221	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	C10orf91_ENST00000490765.1_3'UTR|C10orf91_ENST00000321248.2_Silent_p.L54L	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	54								p.L54L(1)		endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TCTCAGCTTCCTGTTCACAGA	0.537																																																1	Substitution - coding silent(1)	kidney(1)											131	123	126					10																	134261287		2203	4300	6503	SO:0001819	synonymous_variant	170393			BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.160C>T	10.37:g.134261287C>T			Q8N0T7	Silent	SNP	ENST00000392630.3	37	CCDS7668.1																																																																																				0.537	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		T	134261287	C	T	134261287	2	4	532	1	0	0	0	0	0	0	0	1	1626	680	24	2		2	C10orf91	10	134261287	Silent	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	58586250	134261287	1273460	27	28470											
LSP1	4046	broad.mit.edu;ucsc.edu	37	11	1908746	1908746	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr11:1908746C>T	ENST00000311604.3	+	10	1148	c.973C>T	c.(973-975)Cat>Tat	p.H325Y	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.H453Y|LSP1_ENST00000405957.2_Missense_Mutation_p.H263Y|LSP1_ENST00000406638.2_Missense_Mutation_p.H263Y	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	325					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.H325Y(1)|p.H263Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGCCACCGGGCATGGGAAGTA	0.572																																																2	Substitution - Missense(2)	kidney(2)											102	99	100					11																	1908746		2202	4299	6501	SO:0001583	missense	4046			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.973C>T	11.37:g.1908746C>T	ENSP00000308383:p.His325Tyr		B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.397772	0.83120	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000406638	T;T;T;T	0.35973	1.38;1.28;1.41;1.41	3.95	3.95	0.45737	.	0.000000	0.39083	U	0.001469	T	0.48466	0.1501	L	0.32530	0.975	0.47153	D	0.999336	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.52909	-0.8512	10	0.72032	D	0.01	-23.0481	15.0962	0.72235	0.0:1.0:0.0:0.0	.	453;325	E9PFP3;P33241	.;LSP1_HUMAN	Y	325;453;263;263	ENSP00000308383:H325Y;ENSP00000371194:H453Y;ENSP00000383932:H263Y;ENSP00000384022:H263Y	ENSP00000308383:H325Y	H	+	1	0	LSP1	1865322	0.993000	0.37304	0.955000	0.39395	0.925000	0.55904	3.983000	0.56916	2.218000	0.71995	0.305000	0.20034	CAT		0.572	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		T	1908746	C	T	1908746	3	4	532	1	0	0	0	0	1	0	0	0	9065	710	25	2	1011	2	LSP1	11	1908746	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08		1908746	133097770	28	28471											
OR10AG1	282770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55735328	55735328	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr11:55735328C>A	ENST00000312345.2	-	1	662	c.612G>T	c.(610-612)ttG>ttT	p.L204F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L204F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGACAACAATCAACAGAAATG	0.418																																																1	Substitution - Missense(1)	kidney(1)											73	73	73					11																	55735328		2201	4296	6497	SO:0001583	missense	282770			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.612G>T	11.37:g.55735328C>A	ENSP00000311477:p.Leu204Phe		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545824	0.45280	.	.	ENSG00000174970	ENST00000312345	T	0.42131	0.98	5.37	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000556	T	0.34395	0.0896	L	0.37507	1.11	0.09310	N	0.999991	P	0.35872	0.525	B	0.44163	0.443	T	0.15665	-1.0429	10	0.48119	T	0.1	.	4.2495	0.10688	0.0:0.5565:0.1701:0.2734	.	204	Q8NH19	O10AG_HUMAN	F	204	ENSP00000311477:L204F	ENSP00000311477:L204F	L	-	3	2	OR10AG1	55491904	0.000000	0.05858	0.704000	0.30370	0.954000	0.61252	-1.697000	0.01910	0.675000	0.31264	0.477000	0.44152	TTG		0.418	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		A	55735328	C	A	55735328	3	1	532	1	0	0	0	0	1	0	0	0	10899	825	29	4	296	4	OR10AG1	11	55735328	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	53826582	55735328	79271188	29	28472											
AEBP2	121536	broad.mit.edu	37	12	19593226	19593226	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr12:19593226C>A	ENST00000398864.3	+	1	619	c.593C>A	c.(592-594)gCg>gAg	p.A198E	AEBP2_ENST00000266508.9_Missense_Mutation_p.A198E|AEBP2_ENST00000541908.1_Intron|AEBP2_ENST00000360995.4_5'Flank	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	198	Gly-rich.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.A198E(1)		ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					ggaagcagcgCGACCTCCGGG	0.721																																																1	Substitution - Missense(1)	kidney(1)											18	22	20					12																	19593226		1667	3762	5429	SO:0001583	missense	121536				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.593C>A	12.37:g.19593226C>A	ENSP00000381840:p.Ala198Glu		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	ENST00000398864.3	37	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749872	0.49257	.	.	ENSG00000139154	ENST00000398864;ENST00000435841;ENST00000266508	T;T	0.69435	-0.22;-0.4	3.8	3.8	0.43715	.	.	.	.	.	T	0.44644	0.1303	N	0.08118	0	0.80722	D	1	P	0.38827	0.649	B	0.37015	0.239	T	0.41574	-0.9501	9	0.19147	T	0.46	-0.8162	14.0316	0.64619	0.0:1.0:0.0:0.0	.	198	Q6ZN18	AEBP2_HUMAN	E	198;132;198	ENSP00000381840:A198E;ENSP00000266508:A198E	ENSP00000266508:A198E	A	+	2	0	AEBP2	19484493	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.359000	0.34113	1.932000	0.55993	0.511000	0.50034	GCG		0.721	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		A	19593226	C	A	19593226	3	1	532	1	0	0	0	0	1	0	0	0	350	768	27	4	595	4	AEBP2	12	19593226	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08		19593226	114258669	30	28473											
SLCO1B1	10599	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21331930	21331930	+	Missense_Mutation	SNP	G	G	A	rs147421160		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr12:21331930G>A	ENST00000256958.2	+	7	799	c.703G>A	c.(703-705)Gtg>Atg	p.V235M		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	235					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.V235M(1)|p.V235L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TAAAATGTACGTGGATATTGG	0.328																																																2	Substitution - Missense(2)	lung(1)|kidney(1)						G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	110	110	110		703	3.8	0.9	12	dbSNP_134	110	0,8594		0,0,4297	no	missense	SLCO1B1	NM_006446.4	21	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	235/692	21331930	1,12999	2203	4297	6500	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.703G>A	12.37:g.21331930G>A	ENSP00000256958:p.Val235Met		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654045	0.67472	2.27E-4	0.0	ENSG00000134538	ENST00000256958	T	0.47177	0.85	3.76	3.76	0.43208	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.059223	0.64402	D	0.000002	T	0.70307	0.3209	M	0.82193	2.58	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	T	0.75631	-0.3251	10	0.51188	T	0.08	.	16.1164	0.81306	0.0:0.0:1.0:0.0	.	235	Q9Y6L6	SO1B1_HUMAN	M	235	ENSP00000256958:V235M	ENSP00000256958:V235M	V	+	1	0	SLCO1B1	21223197	1.000000	0.71417	0.925000	0.36789	0.709000	0.40893	9.046000	0.93817	2.096000	0.63516	0.305000	0.20034	GTG		0.328	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		A	21331930	G	A	21331930	3	1	532	1	0	0	0	0	1	0	0	0	14729	1145	40	1	725	1	SLCO1B1	12	21331930	Missense_Mutation	SNP	G	TCGA-CJ-4913-01A-01D-1429-08	1738704	21331930	112519965	31	28474											
BAZ2A	11176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57007904	57007904	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr12:57007904T>C	ENST00000551812.1	-	4	948	c.755A>G	c.(754-756)tAc>tGc	p.Y252C	BAZ2A_ENST00000179765.5_Missense_Mutation_p.Y220C|BAZ2A_ENST00000549884.1_Missense_Mutation_p.Y250C|BAZ2A_ENST00000379441.3_Missense_Mutation_p.Y222C	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	252					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Y252C(2)|p.Y288C(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGAGCCATTGTAGCCACACAT	0.453																																																3	Substitution - Missense(3)	kidney(3)											128	122	124					12																	57007904		1972	4151	6123	SO:0001583	missense	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.755A>G	12.37:g.57007904T>C	ENSP00000446880:p.Tyr252Cys		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755927	0.69648	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.69561	-0.27;-0.26;-0.41;-0.4	5.01	5.01	0.66863	.	0.149551	0.45361	D	0.000365	T	0.70561	0.3238	N	0.24115	0.695	0.43841	D	0.996424	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.74627	-0.3602	10	0.87932	D	0	.	13.0136	0.58745	0.0:0.0:0.0:1.0	.	250;252	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	C	222;220;252;250	ENSP00000368754:Y222C;ENSP00000179765:Y220C;ENSP00000446880:Y252C;ENSP00000447941:Y250C	ENSP00000179765:Y220C	Y	-	2	0	BAZ2A	55294171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.633000	0.61318	2.237000	0.73441	0.460000	0.39030	TAC		0.453	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		C	57007904	T	C	57007904	3	2	532	1	0	0	0	0	1	0	0	0	1331	1638	57	3	5066	3	BAZ2A	12	57007904	Missense_Mutation	SNP	T	TCGA-CJ-4913-01A-01D-1429-08	35675974	57007904	76843991	32	28475											
AVPR1A	552	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	63543859	63543859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr12:63543859G>T	ENST00000299178.2	-	1	863	c.758C>A	c.(757-759)tCg>tAg	p.S253*		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	253					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.S253*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCTCTGGCGCGACGCCGTCTT	0.617																																																1	Substitution - Nonsense(1)	kidney(1)											96	97	97					12																	63543859		2203	4300	6503	SO:0001587	stop_gained	552			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.758C>A	12.37:g.63543859G>T	ENSP00000299178:p.Ser253*			Nonsense_Mutation	SNP	ENST00000299178.2	37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	35	5.553085	0.96501	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	.	.	.	5.29	1.27	0.21489	.	0.855382	0.10454	N	0.672750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0693	5.2728	0.15634	0.2419:0.2711:0.487:0.0	.	.	.	.	X	34;253	.	.	S	-	2	0	AVPR1A	61830126	0.005000	0.15991	0.004000	0.12327	0.911000	0.54048	0.877000	0.28106	-0.038000	0.13624	0.455000	0.32223	TCG		0.617	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			T	63543859	G	T	63543859	4	4	532	1	0	0	0	0	0	1	0	0	1231	1059	37	4	506	4	AVPR1A	12	63543859	Nonsense_Mutation	SNP	G	TCGA-CJ-4913-01A-01D-1429-08	6535955	63543859	70308036	33	28476											
COQ5	84274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120966769	120966769	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr12:120966769A>T	ENST00000288532.6	-	1	216	c.176T>A	c.(175-177)gTg>gAg	p.V59E	COQ5_ENST00000445328.2_Missense_Mutation_p.V59E	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	59					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.V59E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCTTCCGACACAGTCTCAAA	0.597																																																1	Substitution - Missense(1)	kidney(1)											136	125	129					12																	120966769		2203	4300	6503	SO:0001583	missense	84274			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.176T>A	12.37:g.120966769A>T	ENSP00000288532:p.Val59Glu		B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934959	0.73442	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	T;D;T	0.85088	-0.88;-1.94;-1.1	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	M	0.90650	3.135	0.47183	D	0.999343	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94574	0.7773	10	0.87932	D	0	.	14.2838	0.66232	1.0:0.0:0.0:0.0	.	59;59	B4DP72;Q5HYK3	.;COQ5_HUMAN	E	59	ENSP00000288532:V59E;ENSP00000401798:V59E;ENSP00000449874:V59E	ENSP00000288532:V59E	V	-	2	0	COQ5	119451152	1.000000	0.71417	0.991000	0.47740	0.114000	0.19823	7.680000	0.84062	2.264000	0.75181	0.533000	0.62120	GTG		0.597	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		T	120966769	A	T	120966769	3	4	532	1	0	0	0	0	1	0	0	0	3750	159	6	5	835	5	COQ5	12	120966769	Missense_Mutation	SNP	A	TCGA-CJ-4913-01A-01D-1429-08	57422910	120966769	12885126	34	28477											
FAM123A	219287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25744223	25744223	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr13:25744223T>C	ENST00000515384.1	-	1	2202	c.1535A>G	c.(1534-1536)gAg>gGg	p.E512G	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Missense_Mutation_p.E393G|AMER2_ENST00000357816.2_Missense_Mutation_p.E393G			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	512					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.E512G(1)|p.E393G(1)									TTCCTGCTGCTCCTTCTCCGG	0.657																																																2	Substitution - Missense(2)	kidney(2)											64	59	61					13																	25744223		2203	4300	6503	SO:0001583	missense	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1535A>G	13.37:g.25744223T>C	ENSP00000426528:p.Glu512Gly		Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912834	0.72983	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.21932	1.98;1.98;1.98	4.98	4.98	0.66077	.	0.202156	0.43747	D	0.000521	T	0.46639	0.1403	M	0.76574	2.34	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.49969	-0.8882	10	0.87932	D	0	-18.9543	13.9944	0.64388	0.0:0.0:0.0:1.0	.	512;393	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	G	393;393;512	ENSP00000350469:E393G;ENSP00000371277:E393G;ENSP00000426528:E512G	ENSP00000350469:E393G	E	-	2	0	FAM123A	24642223	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.855000	0.69510	2.088000	0.63022	0.459000	0.35465	GAG		0.657	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		C	25744223	T	C	25744223	3	2	532	1	0	0	0	0	1	0	0	0	5424	1551	54	3	484	3	FAM123A	13	25744223	Missense_Mutation	SNP	T	TCGA-CJ-4913-01A-01D-1429-08		25744223	89425655	35	28478											
FOXO1	2308	broad.mit.edu	37	13	41134652	41134652	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr13:41134652C>G	ENST00000379561.5	-	2	1360	c.976G>C	c.(976-978)Ggg>Cgg	p.G326R	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	326	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.G326R(2)	PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GAGAGTCTCCCACTAATAGTA	0.483																																																2	Substitution - Missense(2)	kidney(2)											139	122	128					13																	41134652		2203	4300	6503	SO:0001583	missense	2308				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"Forkhead boxes"	3819	protein-coding gene	gene with protein product		136533	"forkhead homolog in rhabdomyosarcoma"	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.976G>C	13.37:g.41134652C>G	ENSP00000368880:p.Gly326Arg		O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802740	0.70682	.	.	ENSG00000150907	ENST00000379561	D	0.96300	-3.97	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99229	1.0881	10	0.87932	D	0	-15.49	18.6061	0.91266	0.0:1.0:0.0:0.0	.	300;326	F8TAD1;Q12778	.;FOXO1_HUMAN	R	326	ENSP00000368880:G326R	ENSP00000368880:G326R	G	-	1	0	FOXO1	40032652	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	7.487000	0.81328	2.653000	0.90120	0.563000	0.77884	GGG		0.483	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		G	41134652	C	G	41134652	3	3	532	1	0	0	0	0	1	0	0	0	6025	594	21	4	995	4	FOXO1	13	41134652	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	15390429	41134652	74035226	36	28479											
KIAA1409	57578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94088412	94088412	+	Silent	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr14:94088412C>A	ENST00000393151.2	+	30	4833	c.4833C>A	c.(4831-4833)tcC>tcA	p.S1611S	UNC79_ENST00000256339.4_Silent_p.S1434S|UNC79_ENST00000555664.1_Silent_p.S1611S|UNC79_ENST00000553484.1_Silent_p.S1633S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1611					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1434S(1)|p.S1633S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAGATCTATCCTCAGATTCAA	0.463																																																2	Substitution - coding silent(2)	kidney(2)											74	77	76					14																	94088412		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4833C>A	14.37:g.94088412C>A			B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.463	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		A	94088412	C	A	94088412	2	1	532	1	0	0	0	0	0	0	0	1	8232	668	24	4		4	KIAA1409	14	94088412	Silent	SNP	C	TCGA-CJ-4913-01A-01D-1429-08		94088412	13261128	37	28480											
SERPINA12	145264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94964360	94964360	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr14:94964360C>A	ENST00000341228.2	-	3	1170	c.375G>T	c.(373-375)caG>caT	p.Q125H	SERPINA12_ENST00000556881.1_Missense_Mutation_p.Q125H	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	125					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q125H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CCTGGGTCTTCTGGGTCAGCT	0.488																																																1	Substitution - Missense(1)	kidney(1)											160	156	157					14																	94964360		2203	4300	6503	SO:0001583	missense	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.375G>T	14.37:g.94964360C>A	ENSP00000342109:p.Gln125His			Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	3.265	-0.150409	0.06585	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84730	-1.89;-1.89	5.49	2.25	0.28309	Serpin domain (3);	0.000000	0.56097	D	0.000025	T	0.75752	0.3892	L	0.52759	1.655	0.09310	N	1	B	0.31730	0.337	B	0.25987	0.065	T	0.65981	-0.6036	10	0.48119	T	0.1	.	4.6879	0.12767	0.0:0.4778:0.1649:0.3573	.	125	Q8IW75	SPA12_HUMAN	H	125	ENSP00000451738:Q125H;ENSP00000342109:Q125H	ENSP00000342109:Q125H	Q	-	3	2	SERPINA12	94034113	0.000000	0.05858	0.283000	0.24790	0.005000	0.04900	-0.536000	0.06135	0.697000	0.31718	-0.140000	0.14226	CAG		0.488	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		A	94964360	C	A	94964360	3	1	532	1	0	0	0	0	1	0	0	0	14095	912	32	4	885	4	SERPINA12	14	94964360	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	875948	94964360	12385180	38	28481											
UBR1	197131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43281101	43281101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr15:43281101C>A	ENST00000290650.4	-	35	3991	c.3913G>T	c.(3913-3915)Gga>Tga	p.G1305*	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1305					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G1305*(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACTTTCAATCCAATTCTATAA	0.368																																																1	Substitution - Nonsense(1)	kidney(1)											91	89	90					15																	43281101		2203	4299	6502	SO:0001587	stop_gained	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3913G>T	15.37:g.43281101C>A	ENSP00000290650:p.Gly1305*		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Nonsense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	42	9.359525	0.99148	.	.	ENSG00000159459	ENST00000290650	.	.	.	4.98	4.98	0.66077	.	0.059719	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-22.2156	18.4342	0.90638	0.0:1.0:0.0:0.0	.	.	.	.	X	1305	.	ENSP00000290650:G1305X	G	-	1	0	UBR1	41068393	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.875000	0.75551	2.569000	0.86673	0.591000	0.81541	GGA		0.368	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		A	43281101	C	A	43281101	4	1	532	1	0	0	0	0	0	1	0	0	16906	603	21	4	1388	4	UBR1	15	43281101	Nonsense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08		43281101	59250291	39	28482											
FBN1	2200	hgsc.bcm.edu;ucsc.edu	37	15	48936936	48936936	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr15:48936936delG	ENST00000316623.5	-	2	486	c.31delC	c.(31-33)ctgfs	p.L11fs	FBN1_ENST00000560355.1_Frame_Shift_Del_p.L11fs|RP11-227D13.1_ENST00000558061.1_lincRNA	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	11					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTAAATCCCAGGGCGATCTCC	0.682																																																0			GRCh37	CD042199	FBN1	D							64	59	61					15																	48936936		2197	4296	6493	SO:0001589	frameshift_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.31delC	15.37:g.48936936delG	ENSP00000325527:p.Leu11fs		B2RUU0|D2JYH6|Q15972|Q75N87	Frame_Shift_Del	DEL	ENST00000316623.5	37	CCDS32232.1																																																																																				0.682	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			-	48936936	G	-	48936936	7	5	532	1	0	1	0	1	0	0	0	0	5704	991	35	0	8844	0	FBN1	15	48936936	Frame_Shift_Del	DEL	G	TCGA-CJ-4913-01A-01D-1429-08	5655835	48936936	53594456	40	28483											
MYO5C	55930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52539694	52539694	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr15:52539694C>G	ENST00000261839.7	-	15	2003	c.1842G>C	c.(1840-1842)aaG>aaC	p.K614N	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	614	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K614N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGCTGTTTGGCTTGATGACTT	0.478																																																1	Substitution - Missense(1)	kidney(1)											152	143	146					15																	52539694		1929	4138	6067	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1842G>C	15.37:g.52539694C>G	ENSP00000261839:p.Lys614Asn		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320088	0.60634	.	.	ENSG00000128833	ENST00000261839	T	0.20598	2.06	5.55	0.491	0.16867	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	M	0.71036	2.16	0.80722	D	1	B	0.30741	0.293	B	0.41412	0.356	T	0.04825	-1.0924	10	0.18276	T	0.48	.	10.1706	0.42908	0.0:0.4684:0.0:0.5316	.	614	Q9NQX4	MYO5C_HUMAN	N	614	ENSP00000261839:K614N	ENSP00000261839:K614N	K	-	3	2	MYO5C	50326986	0.924000	0.31332	0.457000	0.27056	0.994000	0.84299	0.301000	0.19174	0.124000	0.18369	0.655000	0.94253	AAG		0.478	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		G	52539694	C	G	52539694	3	3	532	1	0	0	0	0	1	0	0	0	10082	796	28	4	3494	4	MYO5C	15	52539694	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	3602758	52539694	49991698	41	28484											
KLHL25	64410	broad.mit.edu;hgsc.bcm.edu	37	15	86311567	86311567	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr15:86311567C>A	ENST00000337975.5	-	2	1749	c.1475G>T	c.(1474-1476)aGc>aTc	p.S492I	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.S492I	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	492					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.S492I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAAGATCTGGCTGCCCAGGAC	0.612																																																1	Substitution - Missense(1)	kidney(1)											88	82	84					15																	86311567		2202	4299	6501	SO:0001583	missense	64410				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1475G>T	15.37:g.86311567C>A	ENSP00000336800:p.Ser492Ile		B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353950	0.61293	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.78246	-1.16;-1.16	5.71	5.71	0.89125	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	L	0.41492	1.28	0.51012	D	0.999909	P	0.41102	0.738	P	0.45753	0.492	T	0.79899	-0.1608	10	0.87932	D	0	.	18.8314	0.92141	0.0:1.0:0.0:0.0	.	492	Q9H0H3	ENC2_HUMAN	I	492;461;492	ENSP00000336800:S492I;ENSP00000444739:S492I	ENSP00000336800:S492I	S	-	2	0	KLHL25	84112571	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.959000	0.56744	2.700000	0.92200	0.462000	0.41574	AGC		0.612	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		A	86311567	C	A	86311567	3	1	532	1	0	0	0	0	1	0	0	0	8382	797	28	4	298	4	KLHL25	15	86311567	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	33771873	86311567	16219825	42	28485											
SPNS1	83985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28993800	28993800	+	Silent	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr16:28993800C>T	ENST00000311008.11	+	8	1466	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	LAT_ENST00000395456.2_5'Flank|SPNS1_ENST00000323081.8_Silent_p.L290L|LAT_ENST00000395461.3_5'Flank|SPNS1_ENST00000565975.1_Silent_p.L408L|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000354453.4_5'Flank|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000352260.7_Silent_p.L289L|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000334536.8_Silent_p.L311L	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	363					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)		p.L363L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCACTGGCCTCCTGGGCTCTG	0.667																																																1	Substitution - coding silent(1)	kidney(1)											81	77	79					16																	28993800		2197	4300	6497	SO:0001819	synonymous_variant	83985			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1089C>T	16.37:g.28993800C>T			B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	CCDS10646.1																																																																																				0.667	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		T	28993800	C	T	28993800	2	4	532	1	0	0	0	0	0	0	0	1	15079	842	30	2		2	SPNS1	16	28993800	Silent	SNP	C	TCGA-CJ-4913-01A-01D-1429-08		28993800	61360953	43	28486											
RNF40	9810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30774777	30774777	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr16:30774777G>T	ENST00000324685.6	+	4	774	c.339G>T	c.(337-339)gaG>gaT	p.E113D	C16orf93_ENST00000541260.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.E113D|C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Missense_Mutation_p.E113D	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	113					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E113D(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GATGCCATGAGAGCCAGGGGG	0.542																																																1	Substitution - Missense(1)	kidney(1)											71	71	71					16																	30774777		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.339G>T	16.37:g.30774777G>T	ENSP00000325677:p.Glu113Asp		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	4.659	0.122547	0.08931	.	.	ENSG00000103549	ENST00000324685;ENST00000357890	T;T	0.27104	1.69;1.75	5.84	3.88	0.44766	.	0.103672	0.64402	D	0.000004	T	0.21267	0.0512	N	0.04724	-0.175	0.80722	D	1	D;B;B	0.56035	0.974;0.001;0.001	D;B;B	0.67725	0.953;0.003;0.003	T	0.10753	-1.0616	10	0.02654	T	1	-25.6181	10.4911	0.44752	0.158:0.0:0.842:0.0	.	113;113;113	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	D	113	ENSP00000325677:E113D;ENSP00000350563:E113D	ENSP00000325677:E113D	E	+	3	2	RNF40	30682278	1.000000	0.71417	0.929000	0.37066	0.594000	0.36715	2.032000	0.41127	0.809000	0.34255	-0.251000	0.11542	GAG		0.542	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		T	30774777	G	T	30774777	3	4	532	1	0	0	0	0	1	0	0	0	13499	933	33	4	349	4	RNF40	16	30774777	Missense_Mutation	SNP	G	TCGA-CJ-4913-01A-01D-1429-08	1780977	30774777	59579976	44	28487											
PKD1L2	114780	broad.mit.edu	37	16	81183400	81183400	+	RNA	SNP	C	C	A	rs372988572	byFrequency	TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr16:81183400C>A	ENST00000525539.1	-	0	4647				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.V1550F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCCTCTGGACGCGGGTGAAG	0.587																																																1	Substitution - Missense(1)	kidney(1)											41	43	42					16																	81183400		1969	4153	6122			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183400C>A			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37																																																																																					0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			A	81183400	C	A	81183400	1	1	532	0	1	0	0	0	0	0	0	0	11967	536	19	4		4	PKD1L2	16	81183400	RNA	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	50408623	81183400	9171353	45	28488											
CD300E	342510	broad.mit.edu;hgsc.bcm.edu	37	17	72613272	72613272	+	Missense_Mutation	SNP	C	C	T	rs569640794		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr17:72613272C>T	ENST00000328630.3	-	2	413	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	CD300E_ENST00000392619.1_Missense_Mutation_p.V152M|CD300E_ENST00000426295.2_Missense_Mutation_p.V166M			Q496F6	CLM2_HUMAN	CD300e molecule	125					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V125M(1)|p.V166M(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GAAACATACACCCTAACCAGG	0.547																																																2	Substitution - Missense(2)	kidney(2)											110	97	101					17																	72613272		2203	4300	6503	SO:0001583	missense	342510			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	28874	protein-coding gene	gene with protein product		609801	"CD300 antigen like family member E", "CD300e antigen"	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.373G>A	17.37:g.72613272C>T	ENSP00000329942:p.Val125Met		B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192861	0.58017	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630	T;T;T	0.07021	3.23;3.23;3.23	4.88	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.42821	D	0.000652	T	0.13030	0.0316	N	0.08118	0	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.15636	-1.0430	10	0.87932	D	0	-16.95	13.9084	0.63850	0.0:1.0:0.0:0.0	.	125	Q496F6	CLM2_HUMAN	M	152;166;125	ENSP00000376395:V152M;ENSP00000416642:V166M;ENSP00000329942:V125M	ENSP00000329942:V125M	V	-	1	0	CD300E	70124867	0.211000	0.23529	0.044000	0.18714	0.005000	0.04900	1.116000	0.31221	2.424000	0.82194	0.491000	0.48974	GTG		0.547	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		T	72613272	C	T	72613272	3	4	532	1	0	0	0	0	1	0	0	0	3000	507	18	2	256	2	CD300E	17	72613272	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08		72613272	8581938	46	28489											
BAIAP2	10458	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79027521	79027521	+	Silent	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr17:79027521G>A	ENST00000321300.6	+	2	201	c.108G>A	c.(106-108)aaG>aaA	p.K36K	BAIAP2_ENST00000575245.1_Silent_p.K69K|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000428708.2_Silent_p.K36K|BAIAP2_ENST00000575712.1_Silent_p.K36K|BAIAP2_ENST00000321280.7_Silent_p.K36K|BAIAP2_ENST00000392411.3_Intron|BAIAP2_ENST00000435091.3_Silent_p.K36K	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	36	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)	p.K36K(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCATGGGGAAGAATTACGAGA	0.612																																																2	Substitution - coding silent(2)	kidney(2)											135	120	126					17																	79027521		2203	4300	6503	SO:0001819	synonymous_variant	10458			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.108G>A	17.37:g.79027521G>A			O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	CCDS11775.1																																																																																				0.612	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			A	79027521	G	A	79027521	2	1	532	1	0	0	0	0	0	0	0	1	1301	933	33	2		2	BAIAP2	17	79027521	Silent	SNP	G	TCGA-CJ-4913-01A-01D-1429-08	6414249	79027521	2167689	47	28490											
ROCK1	6093	hgsc.bcm.edu;ucsc.edu	37	18	18629104	18629105	+	Frame_Shift_Ins	INS	-	-	A	rs35810558		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr18:18629104_18629105insA	ENST00000399799.2	-	4	1302_1303	c.362_363insT	c.(361-363)ttcfs	p.F121fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTTCTTCCCAGAAAAAAGCAGA	0.361																																																0																																										SO:0001589	frameshift_variant	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.363dupT	18.37:g.18629110_18629110dupA	ENSP00000382697:p.Phe121fs		B0YJ91|Q2KHM4|Q59GZ4	Frame_Shift_Ins	INS	ENST00000399799.2	37	CCDS11870.2																																																																																				0.361	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18629105	-	A	18629104	7	5	532	1	0	1	1	0	0	0	0	0	13523	933	33	0	3821	0	ROCK1	18	18629104	Frame_Shift_Ins	INS	-	TCGA-CJ-4913-01A-01D-1429-08		18629104	59448144	48	28491											
PHLPP1	23239	broad.mit.edu	37	18	60646514	60646514	+	Silent	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr18:60646514G>A	ENST00000262719.5	+	17	5238	c.5004G>A	c.(5002-5004)ccG>ccA	p.P1668P	PHLPP1_ENST00000400316.4_Silent_p.P1156P			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1668					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.P1668P(2)|p.P1155P(1)		endometrium(2)|kidney(2)|lung(13)	17						TCATACCCCCGGAGCTGGAAG	0.582																																																3	Substitution - coding silent(3)	kidney(3)											10	11	11					18																	60646514		2056	4218	6274	SO:0001819	synonymous_variant	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.5004G>A	18.37:g.60646514G>A			A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	CCDS45881.2																																																																																				0.582	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		A	60646514	G	A	60646514	2	1	532	1	0	0	0	0	0	0	0	1	11856	1103	39	1		1	PHLPP1	18	60646514	Silent	SNP	G	TCGA-CJ-4913-01A-01D-1429-08	42017410	60646514	17430734	49	28492											
ABCA7	10347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1054031	1054031	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr19:1054031A>T	ENST00000263094.6	+	26	3730	c.3499A>T	c.(3499-3501)Aca>Tca	p.T1167S	ABCA7_ENST00000433129.1_Missense_Mutation_p.T1167S|ABCA7_ENST00000435683.2_Missense_Mutation_p.T1029S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1167					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.T1167S(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTATGCACAGGCATTGC	0.592																																																1	Substitution - Missense(1)	kidney(1)											75	86	82					19																	1054031		2203	4300	6503	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.3499A>T	19.37:g.1054031A>T	ENSP00000263094:p.Thr1167Ser		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.317142	0.01331	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.85171	-1.95;-1.95	3.22	-6.44	0.01920	.	.	.	.	.	T	0.62011	0.2393	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.11329	0.006;0.001	T	0.55023	-0.8205	9	0.08837	T	0.75	.	2.2655	0.04077	0.2501:0.2484:0.3765:0.125	.	1029;1167	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	S	1167	ENSP00000263094:T1167S;ENSP00000414062:T1167S	ENSP00000263094:T1167S	T	+	1	0	ABCA7	1005031	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.416000	0.00237	-1.931000	0.01055	-0.856000	0.03024	ACA		0.592	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		T	1054031	A	T	1054031	3	4	532	1	0	0	0	0	1	0	0	0	37	159	6	5	3597	5	ABCA7	19	1054031	Missense_Mutation	SNP	A	TCGA-CJ-4913-01A-01D-1429-08		1054031	58074952	50	28493											
TMIGD2	126259	broad.mit.edu	37	19	4294619	4294619	+	Silent	SNP	A	A	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr19:4294619A>C	ENST00000301272.2	-	4	552	c.507T>G	c.(505-507)ggT>ggG	p.G169G	TMIGD2_ENST00000600114.1_Silent_p.G49G|TMIGD2_ENST00000595645.1_Silent_p.G169G|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	169					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.G169G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAACCAGGCACCCCACACGA	0.627																																																1	Substitution - coding silent(1)	kidney(1)											118	141	133					19																	4294619		2203	4300	6503	SO:0001819	synonymous_variant	126259			BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.507T>G	19.37:g.4294619A>C			Q6UW59	Silent	SNP	ENST00000301272.2	37	CCDS12126.1																																																																																				0.627	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		C	4294619	A	C	4294619	2	2	532	1	0	0	0	0	0	0	0	1	16236	146	6	5		5	TMIGD2	19	4294619	Silent	SNP	A	TCGA-CJ-4913-01A-01D-1429-08	3240588	4294619	54834364	51	28494											
ZNF100	163227	hgsc.bcm.edu;ucsc.edu	37	19	21910711	21910712	+	Frame_Shift_Ins	INS	-	-	T	rs377709566		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr19:21910711_21910712insT	ENST00000358296.6	-	5	600_601	c.402_403insA	c.(400-405)aaatatfs	p.Y135fs	ZNF100_ENST00000305570.6_Frame_Shift_Ins_p.Y71fs	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TATTTTCCATATTTTTTCAGAA	0.327																																																0																																										SO:0001589	frameshift_variant	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.403dupA	19.37:g.21910717_21910717dupT	ENSP00000351042:p.Tyr135fs		Q7M4M0	Frame_Shift_Ins	INS	ENST00000358296.6	37	CCDS42538.1																																																																																				0.327	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		T	21910712	-	T	21910711	7	5	532	1	0	1	1	0	0	0	0	0	17718	449	16	0	1229	0	ZNF100	19	21910711	Frame_Shift_Ins	INS	-	TCGA-CJ-4913-01A-01D-1429-08	17616092	21910711	37218272	52	28495											
POLD1	5424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50918766	50918766	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr19:50918766C>A	ENST00000440232.2	+	21	2689	c.2636C>A	c.(2635-2637)tCc>tAc	p.S879Y	POLD1_ENST00000595904.1_Missense_Mutation_p.S905Y|CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000599857.1_Missense_Mutation_p.S879Y	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	879					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.S879Y(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ATCGATATCTCCCAGCTGGTC	0.682								DNA polymerases (catalytic subunits)																																								2	Substitution - Missense(2)	kidney(2)											43	34	37					19																	50918766		2203	4299	6502	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2636C>A	19.37:g.50918766C>A	ENSP00000406046:p.Ser879Tyr		Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304679	0.60305	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.19532	2.14	4.25	4.25	0.50352	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.123452	0.53938	D	0.000057	T	0.61438	0.2347	H	0.97758	4.07	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.74674	0.978;0.984	T	0.78008	-0.2372	10	0.87932	D	0	-24.5009	15.8183	0.78621	0.0:1.0:0.0:0.0	.	905;879	E7EVW0;P28340	.;DPOD1_HUMAN	Y	879;880	ENSP00000406046:S879Y	ENSP00000366129:S880Y	S	+	2	0	POLD1	55610578	0.999000	0.42202	0.985000	0.45067	0.320000	0.28249	3.641000	0.54360	2.114000	0.64651	0.450000	0.29827	TCC		0.682	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			A	50918766	C	A	50918766	3	1	532	1	0	0	0	0	1	0	0	0	12192	855	30	4	2714	4	POLD1	19	50918766	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	29008055	50918766	8210217	53	28496											
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57325907	57325907	+	Silent	SNP	T	T	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr19:57325907T>G	ENST00000326441.9	-	10	4266	c.3903A>C	c.(3901-3903)gtA>gtC	p.V1301V	PEG3_ENST00000598410.1_Silent_p.V1177V|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.V1175V|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.V1301V|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1301					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V1301V(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGAACAGTTACGTGATCTG	0.458																																																2	Substitution - coding silent(2)	kidney(2)											105	98	100					19																	57325907		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3903A>C	19.37:g.57325907T>G			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			G	57325907	T	G	57325907	2	3	532	1	0	0	0	0	0	0	0	1	11722	1741	61	5		5	PEG3	19	57325907	Silent	SNP	T	TCGA-CJ-4913-01A-01D-1429-08	6407141	57325907	1803076	54	28497											
FOXR2	139628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	55650703	55650703	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chrX:55650703G>C	ENST00000339140.3	+	1	871	c.559G>C	c.(559-561)Gag>Cag	p.E187Q		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	187					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E187Q(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CAACAACCAAGAGAAGTCCTG	0.502																																																1	Substitution - Missense(1)	kidney(1)											64	59	61					X																	55650703		2203	4300	6503	SO:0001583	missense	139628			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.559G>C	X.37:g.55650703G>C	ENSP00000427329:p.Glu187Gln			Missense_Mutation	SNP	ENST00000339140.3	37	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	g	1.934	-0.445267	0.04604	.	.	ENSG00000189299	ENST00000339140	D	0.93763	-3.28	2.74	-0.197	0.13228	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.125910	0.06735	N	0.777371	D	0.91064	0.7188	L	0.57536	1.79	0.09310	N	1	P	0.39717	0.684	B	0.43809	0.432	T	0.78802	-0.2061	10	0.15952	T	0.53	.	6.386	0.21561	0.1291:0.5645:0.3063:0.0	.	187	Q6PJQ5	FOXR2_HUMAN	Q	187	ENSP00000427329:E187Q	ENSP00000427329:E187Q	E	+	1	0	FOXR2	55667428	0.011000	0.17503	0.000000	0.03702	0.000000	0.00434	0.270000	0.18607	-0.160000	0.11002	-0.840000	0.03056	GAG		0.502	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		C	55650703	G	C	55650703	3	2	532	1	0	0	0	0	1	0	0	0	6034	943	33	4	561	4	FOXR2	23	55650703	Missense_Mutation	SNP	G	TCGA-CJ-4913-01A-01D-1429-08		55650703	99619857	55	28498											
ZDHHC9	51114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	128962964	128962964	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chrX:128962964C>T	ENST00000357166.6	-	4	712	c.321G>A	c.(319-321)atG>atA	p.M107I	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.M107I	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	107					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.M107I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CACCTATCTCCATTTCTATGA	0.468																																																1	Substitution - Missense(1)	kidney(1)											130	117	122					X																	128962964		2203	4300	6503	SO:0001583	missense	51114			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"Zinc fingers, DHHC-type"	18475	protein-coding gene	gene with protein product		300646	"zinc finger, DHHC-type containing 10", "chromosome X open reading frame 11"	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.321G>A	X.37:g.128962964C>T	ENSP00000349689:p.Met107Ile		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.185533|4.185533	0.78677|0.78677	.|.	.|.	ENSG00000188706|ENSG00000188706	ENST00000357166;ENST00000371064;ENST00000406492|ENST00000433917	T;T;T|.	0.62364|.	1.21;1.21;0.03|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.147080|.	0.85682|.	D|.	0.000000|.	T|.	0.45577|.	0.1349|.	N|N	0.05177|0.05177	-0.1|-0.1	0.80722|0.80722	D|D	1|1	P|.	0.34837|.	0.472|.	P|.	0.47915|.	0.561|.	T|.	0.43669|.	-0.9377|.	10|.	0.35671|.	T|.	0.21|.	-20.2919|-20.2919	18.8546|18.8546	0.92246|0.92246	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	107|.	Q9Y397|.	ZDHC9_HUMAN|.	I|X	107|67	ENSP00000349689:M107I;ENSP00000360103:M107I;ENSP00000383991:M107I|.	ENSP00000349689:M107I|.	M|W	-|-	3|2	0|0	ZDHHC9|ZDHHC9	128790645|128790645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	5.754000|5.754000	0.68743|0.68743	2.399000|2.399000	0.81585|0.81585	0.594000|0.594000	0.82650|0.82650	ATG|TGG		0.468	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		T	128962964	C	T	128962964	3	4	532	1	0	0	0	0	1	0	0	0	17627	594	21	2	805	2	ZDHHC9	23	128962964	Missense_Mutation	SNP	C	TCGA-CJ-4913-01A-01D-1429-08	73312261	128962964	26307596	56	28499											
TFDP3	51270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	132352095	132352095	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chrX:132352095G>A	ENST00000310125.4	-	1	281	c.193C>T	c.(193-195)Cca>Tca	p.P65S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	65					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P65S(1)|p.P5S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GATGCTGCTGGTCTCTGAGGC	0.552																																																2	Substitution - Missense(2)	kidney(2)											112	91	98					X																	132352095		2203	4300	6503	SO:0001583	missense	51270			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.193C>T	X.37:g.132352095G>A	ENSP00000385461:p.Pro65Ser		Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	G	6.972	0.549309	0.13374	.	.	ENSG00000183434	ENST00000310125	T	0.21932	1.98	0.235	0.235	0.15431	.	.	.	.	.	T	0.14313	0.0346	L	0.43923	1.385	0.36989	D	0.894701	B	0.23442	0.085	B	0.22601	0.04	T	0.14839	-1.0458	9	0.20519	T	0.43	.	6.1977	0.20559	3.0E-4:0.0:0.9996:0.0	.	65	Q5H9I0	TFDP3_HUMAN	S	65	ENSP00000385461:P65S	ENSP00000385461:P65S	P	-	1	0	TFDP3	132179761	1.000000	0.71417	0.072000	0.20136	0.073000	0.16967	1.837000	0.39201	0.288000	0.22398	0.292000	0.19580	CCA		0.552	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		A	132352095	G	A	132352095	3	1	532	1	0	0	0	0	1	0	0	0	15804	1261	44	2	1028	2	TFDP3	23	132352095	Missense_Mutation	SNP	G	TCGA-CJ-4913-01A-01D-1429-08	3389131	132352095	22918465	57	28500											
MIA3	375056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222794531	222794531	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr1:222794531A>C	ENST00000344922.5	+	2	189	c.164A>C	c.(163-165)gAt>gCt	p.D55A	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D55A|MIA3_ENST00000344507.1_Missense_Mutation_p.D55A	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	55	SH3.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D55A(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCTCTTGAAGATTTCACAGGC	0.388																																																1	Substitution - Missense(1)	kidney(1)											118	113	114					1																	222794531		1817	4079	5896	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.164A>C	1.37:g.222794531A>C	ENSP00000340900:p.Asp55Ala		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.608497	0.87258	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.12039	2.72;2.72;2.72	5.58	5.58	0.84498	Src homology-3 domain (2);Variant SH3 (1);	.	.	.	.	T	0.45276	0.1334	M	0.88640	2.97	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	T	0.54636	-0.8264	9	0.87932	D	0	.	15.726	0.77761	1.0:0.0:0.0:0.0	.	55	Q5JRA6	MIA3_HUMAN	A	55	ENSP00000340900:D55A;ENSP00000340587:D55A;ENSP00000341348:D55A	ENSP00000325973:D55A	D	+	2	0	MIA3	220861154	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	8.797000	0.91882	2.114000	0.64651	0.533000	0.62120	GAT		0.388	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		C	222794531	A	C	222794531	3	2	533	1	0	0	0	0	1	0	0	0	9567	333	12	5	170	5	MIA3	1	222794531	Missense_Mutation	SNP	A	TCGA-CJ-4916-01A-01D-1429-08		222794531	26456090	1	28501											
OR2L8	391190	broad.mit.edu;hgsc.bcm.edu	37	1	248112971	248112971	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr1:248112971A>T	ENST00000357191.3	+	1	812	c.812A>T	c.(811-813)aAg>aTg	p.K271M	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K271M(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACAGAGGACAAGGTTCTGGCT	0.507																																																1	Substitution - Missense(1)	kidney(1)											114	90	98					1																	248112971		2203	4298	6501	SO:0001583	missense	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.812A>T	1.37:g.248112971A>T	ENSP00000349719:p.Lys271Met		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	11.47	1.649504	0.29336	.	.	ENSG00000196936	ENST00000357191	T	0.00198	8.57	1.8	0.49	0.16861	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32836	U	0.005595	T	0.00300	0.0009	M	0.76328	2.33	0.09310	N	1	P	0.51791	0.948	P	0.55713	0.782	T	0.49133	-0.8971	10	0.40728	T	0.16	.	3.4635	0.07541	0.5534:0.2255:0.0:0.2211	.	271	Q8NGY9	OR2L8_HUMAN	M	271	ENSP00000349719:K271M	ENSP00000349719:K271M	K	+	2	0	OR2L8	246179594	.	.	0.237000	0.24090	0.765000	0.43378	.	.	-0.027000	0.13873	0.397000	0.26171	AAG		0.507	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			T	248112971	A	T	248112971	3	4	533	1	0	0	0	0	1	0	0	0	11011	72	3	5	814	5	OR2L8	1	248112971	Missense_Mutation	SNP	A	TCGA-CJ-4916-01A-01D-1429-08	25318440	248112971	1137650	2	28502											
FBXO11	80204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48066061	48066061	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:48066061T>C	ENST00000403359.3	-	4	596	c.524A>G	c.(523-525)gAt>gGt	p.D175G	FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.D91G|FBXO11_ENST00000316377.4_Missense_Mutation_p.D91G|FBXO11_ENST00000378314.3_Missense_Mutation_p.D57G	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	175	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.D91G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCTACAAAGATCCTGTTCCAG	0.368			"Mis, F, D"		DLBCL																																		Rec	yes		2	2p16.3	80204	F-box protein 11		L	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(1)											113	105	107					2																	48066061		2203	4300	6503	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.524A>G	2.37:g.48066061T>C	ENSP00000384823:p.Asp175Gly		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762219	0.89932	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000424163;ENST00000378314	T;T;T;T;T	0.63255	1.46;1.46;1.46;-0.03;-0.03	5.5	5.5	0.81552	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.92077	3.27	0.80722	D	1	B	0.31910	0.346	B	0.25987	0.065	T	0.75872	-0.3164	10	0.72032	D	0.01	-9.3875	15.598	0.76602	0.0:0.0:0.0:1.0	.	175	Q86XK2	FBX11_HUMAN	G	91;175;91;91;57	ENSP00000385398:D91G;ENSP00000384823:D175G;ENSP00000323822:D91G;ENSP00000392272:D91G;ENSP00000367565:D57G	ENSP00000323822:D91G	D	-	2	0	FBXO11	47919565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.079000	0.62486	0.460000	0.39030	GAT		0.368	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		C	48066061	T	C	48066061	3	2	533	1	0	0	0	0	1	0	0	0	5729	1435	50	3	2429	3	FBXO11	2	48066061	Missense_Mutation	SNP	T	TCGA-CJ-4916-01A-01D-1429-08		48066061	195133312	3	28503											
CCDC93	54520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	118766138	118766138	+	Silent	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:118766138A>G	ENST00000376300.2	-	2	276	c.139T>C	c.(139-141)Tta>Cta	p.L47L	AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Silent_p.L47L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	47								p.L47L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AAGGGTGATAAGCCTTTAATT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											165	153	157					2																	118766138		2203	4300	6503	SO:0001819	synonymous_variant	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.139T>C	2.37:g.118766138A>G			A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Silent	SNP	ENST00000376300.2	37	CCDS2121.2																																																																																				0.388	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		G	118766138	A	G	118766138	2	3	533	1	0	0	0	0	0	0	0	1	2874	69	3	3		3	CCDC93	2	118766138	Silent	SNP	A	TCGA-CJ-4916-01A-01D-1429-08	70700077	118766138	124433235	4	28504											
FMNL2	114793	hgsc.bcm.edu	37	2	153493057	153493059	+	In_Frame_Del	DEL	AAT	AAT	-	rs563346055	byFrequency	TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:153493057_153493059delAAT	ENST00000475377.2	+	9	1122_1124	c.922_924delAAT	c.(922-924)aatdel	p.N308del	FMNL2_ENST00000288670.9_In_Frame_Del_p.N933del			Q96PY5	FMNL2_HUMAN	formin-like 2	933	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CATCCTCAACAATGAGGGGAAGC	0.507														7	0.00139776	0.0	0.0014	5008	,	,		21120	0.0		0.003	False		,,,				2504	0.0031															0										5,3999		0,5,1997						4.7	1			63	34,8062		1,32,4015	no	coding	FMNL2	NM_052905.3		1,37,6012	A1A1,A1R,RR		0.42,0.1249,0.3223				39,12061				SO:0001651	inframe_deletion	114793			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.922_924delAAT	2.37:g.153493057_153493059delAAT	ENSP00000418959:p.Asn308del		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	In_Frame_Del	DEL	ENST00000475377.2	37																																																																																					0.507	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905		-	153493059	AAT	-	153493057	7	5	533	1	0	1	0	1	0	0	0	0	5954	130	5	0	2883	0	FMNL2	2	153493057	In_Frame_Del	DEL	AAT	TCGA-CJ-4916-01A-01D-1429-08	34726919	153493057	89706316	5	28505											
ITGAV	3685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	187500900	187500900	+	Silent	SNP	G	G	A	rs201616731		TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:187500900G>A	ENST00000261023.3	+	7	997	c.723G>A	c.(721-723)cgG>cgA	p.R241R	ITGAV_ENST00000433736.2_Silent_p.R195R|ITGAV_ENST00000374907.3_Silent_p.R205R	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	241					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.R241R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TAGCAACTCGGACTGCACAAG	0.353																																					Melanoma(58;108 1995 6081)											1	Substitution - coding silent(1)	kidney(1)											102	102	102					2																	187500900		2202	4300	6502	SO:0001819	synonymous_variant	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.723G>A	2.37:g.187500900G>A			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	CCDS2292.1																																																																																				0.353	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		A	187500900	G	A	187500900	2	1	533	1	0	0	0	0	0	0	0	1	7890	1161	41	2		2	ITGAV	2	187500900	Silent	SNP	G	TCGA-CJ-4916-01A-01D-1429-08	34007843	187500900	55698473	6	28506											
XRCC5	7520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	217005911	217005911	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:217005911G>A	ENST00000392133.3	+	15	1806	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	XRCC5_ENST00000392132.2_Missense_Mutation_p.A449T|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	449	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.A449T(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGTTTAAGAGGCACAGTTGAA	0.393								Non-homologous end-joining																																								1	Substitution - Missense(1)	kidney(1)											135	139	137					2																	217005911		2203	4300	6503	SO:0001583	missense	7520			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1345G>A	2.37:g.217005911G>A	ENSP00000375978:p.Ala449Thr		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843818	0.16963	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.31769	1.48;1.48	5.6	5.6	0.85130	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);DNA helicase, ATP-dependent, Ku type (1);Ku70/Ku80 C-terminal arm (1);	0.424346	0.25475	N	0.030418	T	0.25975	0.0633	L	0.38175	1.15	0.44728	D	0.997728	B	0.24721	0.11	B	0.20767	0.031	T	0.03008	-1.1083	10	0.48119	T	0.1	.	13.1766	0.59630	0.0:0.0:0.8404:0.1596	.	449	P13010	XRCC5_HUMAN	T	449	ENSP00000375978:A449T;ENSP00000375977:A449T	ENSP00000375977:A449T	A	+	1	0	XRCC5	216714156	1.000000	0.71417	0.989000	0.46669	0.308000	0.27856	2.613000	0.46351	2.636000	0.89361	0.655000	0.94253	GCA		0.393	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		A	217005911	G	A	217005911	3	1	533	1	0	0	0	0	1	0	0	0	17461	1203	42	2	1395	2	XRCC5	2	217005911	Missense_Mutation	SNP	G	TCGA-CJ-4916-01A-01D-1429-08	29505011	217005911	26193462	7	28507											
STK36	27148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219561786	219561786	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:219561786G>T	ENST00000295709.3	+	23	2890	c.2611G>T	c.(2611-2613)Gat>Tat	p.D871Y	STK36_ENST00000392105.3_Missense_Mutation_p.D850Y|STK36_ENST00000392106.2_Missense_Mutation_p.D850Y|STK36_ENST00000440309.1_Missense_Mutation_p.D871Y	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.D871Y(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCTAATCAGGGATATGTCCAG	0.522																																																1	Substitution - Missense(1)	kidney(1)											185	197	193					2																	219561786		2203	4300	6503	SO:0001583	missense	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2611G>T	2.37:g.219561786G>T	ENSP00000295709:p.Asp871Tyr			Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317759	0.23994	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.73047	-0.59;-0.71;-0.71;-0.59	5.12	3.31	0.37934	.	0.326007	0.21896	N	0.067504	T	0.66684	0.2814	L	0.27053	0.805	0.09310	N	0.999999	D;D;P	0.71674	0.998;0.964;0.94	P;P;B	0.57244	0.816;0.715;0.417	T	0.57027	-0.7881	10	0.62326	D	0.03	-2.9537	6.5595	0.22479	0.1624:0.1508:0.6869:0.0	.	850;850;871	A8MU99;Q9NRP7-2;Q9NRP7	.;.;STK36_HUMAN	Y	871;850;850;871	ENSP00000295709:D871Y;ENSP00000375955:D850Y;ENSP00000375954:D850Y;ENSP00000394095:D871Y	ENSP00000295709:D871Y	D	+	1	0	STK36	219270030	0.994000	0.37717	0.473000	0.27253	0.006000	0.05464	2.502000	0.45398	0.732000	0.32470	-0.878000	0.02970	GAT		0.522	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			T	219561786	G	T	219561786	3	4	533	1	0	0	0	0	1	0	0	0	15307	1174	41	4	2697	4	STK36	2	219561786	Missense_Mutation	SNP	G	TCGA-CJ-4916-01A-01D-1429-08	2555875	219561786	23637587	8	28508											
VHL	7428	hgsc.bcm.edu	37	3	10183748	10183748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq;PacBio			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr3:10183748C>T	ENST00000256474.2	+	1	1057	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.Q73*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	73			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q73*(5)|p.Q73fs*86(2)|p.E70fs*85(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S72>?(1)|p.P71fs*56(1)|p.V74fs*58(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGAGCCCTCCCAGGTCATCTT	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	16	Deletion - Frameshift(7)|Substitution - Nonsense(5)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)	kidney(15)|soft_tissue(1)	GRCh37	CM951269|HD971372	VHL	D|M							10	13	12					3																	10183748		2149	4222	6371	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.217C>T	3.37:g.10183748C>T	ENSP00000256474:p.Gln73*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	36	5.850028	0.97023	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.43	4.37	0.52481	.	0.577737	0.18941	N	0.126935	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-4.8227	12.3925	0.55366	0.0:0.9041:0.0:0.0959	.	.	.	.	X	73	.	ENSP00000256474:Q73X	Q	+	1	0	VHL	10158748	0.804000	0.28969	1.000000	0.80357	0.981000	0.71138	1.185000	0.32065	2.558000	0.86282	0.550000	0.68814	CAG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183748	C	T	10183748	4	4	533	1	0	0	0	0	0	1	0	0	17167	595	21	2	219	2	VHL	3	10183748	Nonsense_Mutation	SNP	C	TCGA-CJ-4916-01A-01D-1429-08		10183748	187838682	9	28509											
SCN10A	6336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38802744	38802744	+	Silent	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr3:38802744A>G	ENST00000449082.2	-	6	821	c.822T>C	c.(820-822)aaT>aaC	p.N274N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	274					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.N274N(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGACACATTTATTTTTGAGGT	0.463																																																1	Substitution - coding silent(1)	kidney(1)											127	108	114					3																	38802744		2203	4300	6503	SO:0001819	synonymous_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.822T>C	3.37:g.38802744A>G			A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.463	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		G	38802744	A	G	38802744	2	3	533	1	0	0	0	0	0	0	0	1	13918	446	16	3		3	SCN10A	3	38802744	Silent	SNP	A	TCGA-CJ-4916-01A-01D-1429-08	28618996	38802744	159219686	10	28510											
GPR128	84873	broad.mit.edu;hgsc.bcm.edu	37	3	100354672	100354672	+	Splice_Site	SNP	T	T	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr3:100354672T>A	ENST00000273352.3	+	5	865		c.e5+2		GPR128_ENST00000475887.1_Splice_Site	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCACCTGAGGTAAAACTCACA	0.368																																					Pancreas(87;185 1975 7223 18722)											1	Unknown(1)	kidney(1)											49	47	48					3																	100354672		2203	4300	6503	SO:0001630	splice_region_variant	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.597+2T>A	3.37:g.100354672T>A			Q14D94|Q86SQ2	Splice_Site	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.887924	0.33348	.	.	ENSG00000144820	ENST00000273352	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2603	0.54647	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR128	101837362	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	3.424000	0.52764	2.150000	0.67090	0.482000	0.46254	.		0.368	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		Intron	A	100354672	T	A	100354672	5	1	533	1	0	0	0	0	0	0	1	0	6643	1652	57	5	617	5	GPR128	3	100354672	Splice_Site	SNP	T	TCGA-CJ-4916-01A-01D-1429-08	61551928	100354672	97667758	11	28511											
AHSG	197	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186335070	186335070	+	Silent	SNP	G	G	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr3:186335070G>T	ENST00000273784.5	+	4	583	c.507G>T	c.(505-507)ctG>ctT	p.L169L	AHSG_ENST00000411641.2_Silent_p.L168L	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	168	Cystatin fetuin-A-type 2. {ECO:0000255|PROSITE-ProRule:PRU00861}.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649). {ECO:0000305}.	acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.L168L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AAGCTGCCCTGGCCGCCTTCA	0.597											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											72	69	70					3																	186335070		2203	4300	6503	SO:0001819	synonymous_variant	197			D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.507G>T	3.37:g.186335070G>T		2006	A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	37																																																																																					0.597	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		T	186335070	G	T	186335070	2	4	533	1	0	0	0	0	0	0	0	1	420	1335	47	4		4	AHSG	3	186335070	Silent	SNP	G	TCGA-CJ-4916-01A-01D-1429-08	85980398	186335070	11687360	12	28512											
PHF17	79960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	129789065	129789065	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr4:129789065T>A	ENST00000226319.6	+	10	1838	c.1558T>A	c.(1558-1560)Tgc>Agc	p.C520S	PHF17_ENST00000452328.2_Missense_Mutation_p.C508S|PHF17_ENST00000512960.1_Missense_Mutation_p.C520S	NM_199320.2	NP_955352.1												p.C520S(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACGGTCTGTGTGCAAAGTCCA	0.403																																																1	Substitution - Missense(1)	kidney(1)											92	88	89					4																	129789065		2203	4300	6503	SO:0001583	missense	79960																														ENST00000226319.6:c.1558T>A	4.37:g.129789065T>A	ENSP00000226319:p.Cys520Ser			Missense_Mutation	SNP	ENST00000226319.6	37	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218388	0.58560	.	.	ENSG00000077684	ENST00000226319;ENST00000452328;ENST00000512960;ENST00000535321	T;T;T	0.38560	1.13;1.13;1.13	5.28	5.28	0.74379	.	0.045905	0.85682	D	0.000000	T	0.53206	0.1782	L	0.39085	1.19	0.80722	D	1	B;D	0.76494	0.094;0.999	B;D	0.70227	0.171;0.968	T	0.49184	-0.8966	9	.	.	.	.	15.3844	0.74684	0.0:0.0:0.0:1.0	.	508;520	Q6IE81-2;Q6IE81	.;JADE1_HUMAN	S	520;508;520;520	ENSP00000226319:C520S;ENSP00000388015:C508S;ENSP00000425730:C520S	.	C	+	1	0	PHF17	130008515	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.418000	0.66429	2.210000	0.71456	0.533000	0.62120	TGC		0.403	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			A	129789065	T	A	129789065	3	1	533	1	0	0	0	0	1	0	0	0	11830	1696	59	5	1619	5	PHF17	4	129789065	Missense_Mutation	SNP	T	TCGA-CJ-4916-01A-01D-1429-08		129789065	61365211	13	28513											
ACTBL2	345651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	56777710	56777710	+	Silent	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr5:56777710G>A	ENST00000423391.1	-	1	926	c.825C>T	c.(823-825)atC>atT	p.I275I	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	275						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.I275I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TTGTCTCATGGATCCCACTGG	0.502																																																1	Substitution - coding silent(1)	kidney(1)											102	95	98					5																	56777710		2203	4300	6503	SO:0001819	synonymous_variant	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.825C>T	5.37:g.56777710G>A			B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	ENST00000423391.1	37	CCDS34163.1																																																																																				0.502	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		A	56777710	G	A	56777710	2	1	533	1	0	0	0	0	0	0	0	1	194	1164	41	2		2	ACTBL2	5	56777710	Silent	SNP	G	TCGA-CJ-4916-01A-01D-1429-08		56777710	124137550	14	28514											
CCND3	896	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41904303	41904303	+	Silent	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr6:41904303A>G	ENST00000372991.4	-	4	903	c.705T>C	c.(703-705)acT>acC	p.T235T	CCND3_ENST00000510503.1_Intron|CCND3_ENST00000511642.1_Silent_p.T154T|CCND3_ENST00000415497.2_Silent_p.T39T|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372988.4_Silent_p.T154T|CCND3_ENST00000414200.2_Silent_p.T163T|CCND3_ENST00000372987.4_Silent_p.T185T	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	235					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)	p.T235T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCACCACTTCAGTGCCAGTGA	0.602			T	IGH@	MM						OREG0017437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		6	6p21	896	cyclin D3		L	1	Substitution - coding silent(1)	kidney(1)											58	50	53					6																	41904303		2203	4300	6503	SO:0001819	synonymous_variant	896				CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.705T>C	6.37:g.41904303A>G		904	B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Silent	SNP	ENST00000372991.4	37	CCDS4863.1	.	.	.	.	.	.	.	.	.	.	a	8.797	0.932066	0.18131	.	.	ENSG00000112576	ENST00000512426	.	.	.	5.41	-1.26	0.09376	.	.	.	.	.	T	0.22859	0.0552	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25779	-1.0122	4	.	.	.	.	1.6231	0.02717	0.23:0.1128:0.1523:0.5049	.	.	.	.	P	170	.	.	L	-	2	0	CCND3	42012281	0.000000	0.05858	0.997000	0.53966	0.986000	0.74619	-2.474000	0.00988	-0.203000	0.10251	0.383000	0.25322	CTG		0.602	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	NM_001760		G	41904303	A	G	41904303	2	3	533	1	0	0	0	0	0	0	0	1	2920	175	7	3		3	CCND3	6	41904303	Silent	SNP	A	TCGA-CJ-4916-01A-01D-1429-08		41904303	129210764	15	28515											
MET	4233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116339927	116339927	+	Silent	SNP	G	G	T	rs554190225	byFrequency	TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr7:116339927G>T	ENST00000318493.6	+	2	976	c.789G>T	c.(787-789)acG>acT	p.T263T	MET_ENST00000436117.2_Silent_p.T263T|MET_ENST00000397752.3_Silent_p.T263T			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T263T(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACTTCTTGACGGTCCAAAGGG	0.403			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - coding silent(1)	kidney(1)											162	154	157					7																	116339927		1847	4105	5952	SO:0001819	synonymous_variant	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.789G>T	7.37:g.116339927G>T			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	CCDS47689.1																																																																																				0.403	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			T	116339927	G	T	116339927	2	4	533	1	0	0	0	0	0	0	0	1	9487	1103	39	4		4	MET	7	116339927	Silent	SNP	G	TCGA-CJ-4916-01A-01D-1429-08		116339927	42798736	16	28516											
FAM91A1	157769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	124817571	124817571	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr8:124817571T>A	ENST00000334705.7	+	19	2120	c.1874T>A	c.(1873-1875)cTa>cAa	p.L625Q	FAM91A1_ENST00000521166.1_Missense_Mutation_p.L625Q	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	625								p.L625Q(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GAAACAGAACTACAAGGAGGT	0.338																																																1	Substitution - Missense(1)	kidney(1)											105	92	96					8																	124817571		1834	4080	5914	SO:0001583	missense	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1874T>A	8.37:g.124817571T>A	ENSP00000335082:p.Leu625Gln		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	T	13.33	2.204458	0.38905	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.30714	1.52;1.52	5.46	5.46	0.80206	.	0.067741	0.64402	D	0.000011	T	0.25158	0.0611	L	0.46157	1.445	0.53688	D	0.999973	B;B	0.06786	0.0;0.001	B;B	0.12837	0.008;0.005	T	0.07790	-1.0754	10	0.13853	T	0.58	.	10.5325	0.44986	0.1804:0.0:0.0:0.8196	.	625;625	E7ER68;Q658Y4	.;F91A1_HUMAN	Q	625	ENSP00000429491:L625Q;ENSP00000335082:L625Q	ENSP00000335082:L625Q	L	+	2	0	FAM91A1	124886752	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.344000	0.72991	2.072000	0.62099	0.383000	0.25322	CTA		0.338	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		A	124817571	T	A	124817571	3	1	533	1	0	0	0	0	1	0	0	0	5653	1522	53	5	1948	5	FAM91A1	8	124817571	Missense_Mutation	SNP	T	TCGA-CJ-4916-01A-01D-1429-08		124817571	21546451	17	28517											
VLDLR	7436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2646492	2646492	+	Missense_Mutation	SNP	A	A	C	rs148487944		TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr9:2646492A>C	ENST00000382100.3	+	11	1999	c.1643A>C	c.(1642-1644)aAg>aCg	p.K548T	VLDLR_ENST00000478776.1_3'UTR|VLDLR_ENST00000382099.2_Missense_Mutation_p.K548T	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	548					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.K548T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ACCAAGAGGAAGTTCCTGTTT	0.478																																																1	Substitution - Missense(1)	kidney(1)											115	107	110					9																	2646492		2203	4300	6503	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1643A>C	9.37:g.2646492A>C	ENSP00000371532:p.Lys548Thr		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711390	0.68730	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.93426	-3.22;-3.22	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.53938	D	0.000052	D	0.94555	0.8246	M	0.63428	1.95	0.80722	D	1	B;B;B	0.27068	0.138;0.167;0.098	B;P;P	0.47430	0.411;0.547;0.487	D	0.91936	0.5559	10	0.28530	T	0.3	.	12.361	0.55203	0.8593:0.1407:0.0:0.0	.	548;548;548	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	T	548;548;427	ENSP00000371532:K548T;ENSP00000371531:K548T	ENSP00000371524:K427T	K	+	2	0	VLDLR	2636492	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.140000	0.71738	2.206000	0.71126	0.454000	0.30748	AAG		0.478	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		C	2646492	A	C	2646492	3	2	533	1	0	0	0	0	1	0	0	0	17179	72	3	5	1685	5	VLDLR	9	2646492	Missense_Mutation	SNP	A	TCGA-CJ-4916-01A-01D-1429-08		2646492	138566939	18	28518											
SMC5	23137	broad.mit.edu;hgsc.bcm.edu	37	9	72933592	72933592	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr9:72933592G>A	ENST00000361138.5	+	14	2027	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	657					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.E657K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ACACTTAGAAGAACAGCTAAA	0.313																																																1	Substitution - Missense(1)	kidney(1)											58	61	60					9																	72933592		2203	4298	6501	SO:0001583	missense	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1969G>A	9.37:g.72933592G>A	ENSP00000354957:p.Glu657Lys		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649039	0.47362	.	.	ENSG00000198887	ENST00000361138	T	0.18338	2.22	5.71	3.79	0.43588	RecF/RecN/SMC (1);	0.289920	0.39146	N	0.001457	T	0.09512	0.0234	L	0.36672	1.1	0.43628	D	0.996019	B	0.30914	0.3	B	0.25759	0.063	T	0.09997	-1.0649	10	0.09084	T	0.74	-23.8933	5.9426	0.19201	0.1451:0.0:0.6731:0.1818	.	657	Q8IY18	SMC5_HUMAN	K	657	ENSP00000354957:E657K	ENSP00000354957:E657K	E	+	1	0	SMC5	72123412	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.669000	0.46825	2.682000	0.91365	0.585000	0.79938	GAA		0.313	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		A	72933592	G	A	72933592	3	1	533	1	0	0	0	0	1	0	0	0	14792	943	33	2	2023	2	SMC5	9	72933592	Missense_Mutation	SNP	G	TCGA-CJ-4916-01A-01D-1429-08	70287100	72933592	68279839	19	28519											
ZWINT	11130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	58120095	58120095	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr10:58120095C>G	ENST00000373944.3	-	2	129	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	ZWINT_ENST00000361148.6_Missense_Mutation_p.E31Q|ZWINT_ENST00000460654.1_5'Flank|ZWINT_ENST00000395405.1_Missense_Mutation_p.E31Q|ZWINT_ENST00000318387.2_5'Flank			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	31					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)	p.E31Q(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						AGTTCTGCCTCCTCCTGCAGG	0.547																																																1	Substitution - Missense(1)	kidney(1)											68	62	64					10																	58120095		2203	4300	6503	SO:0001583	missense	11130			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.91G>C	10.37:g.58120095C>G	ENSP00000363055:p.Glu31Gln		A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448610	0.43531	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000373940;ENST00000361148	T;T;T	0.59364	0.27;0.27;0.27	4.69	3.78	0.43462	.	0.136347	0.33610	N	0.004725	T	0.61751	0.2372	M	0.62723	1.935	0.28373	N	0.919893	D;D	0.57257	0.979;0.979	P;P	0.51615	0.675;0.675	T	0.60125	-0.7324	10	0.66056	D	0.02	-13.4756	9.7116	0.40249	0.0:0.8999:0.0:0.1001	.	31;31	A6NNV6;O95229	.;ZWINT_HUMAN	Q	31	ENSP00000363055:E31Q;ENSP00000378801:E31Q;ENSP00000354921:E31Q	ENSP00000354921:E31Q	E	-	1	0	ZWINT	57790101	0.996000	0.38824	0.518000	0.27811	0.134000	0.20937	3.652000	0.54439	1.282000	0.44496	0.650000	0.86243	GAG		0.547	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			G	58120095	C	G	58120095	3	3	533	1	0	0	0	0	1	0	0	0	18254	864	30	4	770	4	ZWINT	10	58120095	Missense_Mutation	SNP	C	TCGA-CJ-4916-01A-01D-1429-08		58120095	77414652	20	28520											
BTAF1	9044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93784657	93784657	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr10:93784657C>T	ENST00000265990.6	+	35	5316	c.5008C>T	c.(5008-5010)Ccc>Tcc	p.P1670S	BTAF1_ENST00000544642.1_Missense_Mutation_p.P498S	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1670	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1670S(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACCTCACTTGCCCTCTGTCAC	0.443																																																1	Substitution - Missense(1)	kidney(1)											161	146	151					10																	93784657		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5008C>T	10.37:g.93784657C>T	ENSP00000265990:p.Pro1670Ser		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379823	0.95945	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.75367	-0.93;-0.93	5.99	5.99	0.97316	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.81513	0.4838	L	0.38953	1.18	0.80722	D	1	D	0.69078	0.997	D	0.65323	0.934	T	0.81906	-0.0718	10	0.72032	D	0.01	-9.2038	20.4756	0.99175	0.0:1.0:0.0:0.0	.	1670	O14981	BTAF1_HUMAN	S	1670;498;520	ENSP00000265990:P1670S;ENSP00000439924:P498S	ENSP00000265990:P1670S	P	+	1	0	BTAF1	93774637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.037000	0.70956	2.847000	0.97988	0.655000	0.94253	CCC		0.443	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		T	93784657	C	T	93784657	3	4	533	1	0	0	0	0	1	0	0	0	1538	739	26	2	5146	2	BTAF1	10	93784657	Missense_Mutation	SNP	C	TCGA-CJ-4916-01A-01D-1429-08	35664562	93784657	41750090	21	28521											
SLIT1	6585	broad.mit.edu;hgsc.bcm.edu	37	10	98945307	98945307	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr10:98945307C>G	ENST00000266058.4	-	1	370	c.125G>C	c.(124-126)gGa>gCa	p.G42A	SLIT1_ENST00000371070.4_Missense_Mutation_p.G42A|ARHGAP19-SLIT1_ENST00000453547.2_Intron|SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.G42A	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	42	LRRNT.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G42A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CACCGTGGTTCCGGTGCAGGT	0.721																																																1	Substitution - Missense(1)	kidney(1)											18	19	19					10																	98945307		2196	4284	6480	SO:0001583	missense	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.125G>C	10.37:g.98945307C>G	ENSP00000266058:p.Gly42Ala		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238267	0.79800	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;D;D	0.95821	1.9;1.9;-3.82;-3.82	3.73	3.73	0.42828	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.49256	1.55	0.80722	D	1	B;B;D	0.62365	0.092;0.158;0.991	B;B;P	0.58721	0.308;0.22;0.844	D	0.94634	0.7824	10	0.35671	T	0.21	.	14.5757	0.68246	0.0:1.0:0.0:0.0	.	42;42;42	E7EWQ8;O75093-2;O75093	.;.;SLIT1_HUMAN	A	42;42;42;42;25;42;42	ENSP00000266058:G42A;ENSP00000360109:G42A;ENSP00000315005:G25A;ENSP00000360080:G42A	ENSP00000266058:G42A	G	-	2	0	SLIT1	98935297	1.000000	0.71417	0.984000	0.44739	0.958000	0.62258	6.788000	0.75105	2.055000	0.61198	0.407000	0.27541	GGA		0.721	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		G	98945307	C	G	98945307	3	3	533	1	0	0	0	0	1	0	0	0	14745	855	30	4	4627	4	SLIT1	10	98945307	Missense_Mutation	SNP	C	TCGA-CJ-4916-01A-01D-1429-08	5160650	98945307	36589440	22	28522											
DCHS1	8642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6661620	6661620	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr11:6661620C>T	ENST00000299441.3	-	2	1636	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E409K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTGGCCCTCTCCACCTTCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											54	49	51					11																	6661620		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1225G>A	11.37:g.6661620C>T	ENSP00000299441:p.Glu409Lys		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067919	0.93950	.	.	ENSG00000166341	ENST00000299441	T	0.53423	0.62	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.146541	0.31301	N	0.007895	T	0.63105	0.2483	L	0.47716	1.5	0.58432	D	0.999999	D	0.61697	0.99	D	0.80764	0.994	T	0.56019	-0.8048	10	0.30078	T	0.28	.	18.7519	0.91819	0.0:1.0:0.0:0.0	.	409	Q96JQ0	PCD16_HUMAN	K	409	ENSP00000299441:E409K	ENSP00000299441:E409K	E	-	1	0	DCHS1	6618196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.925000	0.63425	2.661000	0.90470	0.637000	0.83480	GAG		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		T	6661620	C	T	6661620	3	4	533	1	0	0	0	0	1	0	0	0	4289	922	32	2	8751	2	DCHS1	11	6661620	Missense_Mutation	SNP	C	TCGA-CJ-4916-01A-01D-1429-08		6661620	128344896	23	28523											
TNKS1BP1	85456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57087711	57087711	+	Silent	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr11:57087711G>A	ENST00000532437.1	-	2	881	c.570C>T	c.(568-570)aaC>aaT	p.N190N	TNKS1BP1_ENST00000358252.3_Silent_p.N190N			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	190	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.N190N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCCATCGTGGTTAAAGGTGA	0.647																																																1	Substitution - coding silent(1)	kidney(1)											61	65	64					11																	57087711		2201	4296	6497	SO:0001819	synonymous_variant	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.570C>T	11.37:g.57087711G>A			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	CCDS7951.1																																																																																				0.647	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		A	57087711	G	A	57087711	2	1	533	1	0	0	0	0	0	0	0	1	16325	1252	44	2		2	TNKS1BP1	11	57087711	Silent	SNP	G	TCGA-CJ-4916-01A-01D-1429-08	50426091	57087711	77918805	24	28524											
FBXL14	144699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	1702196	1702196	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr12:1702196T>C	ENST00000339235.3	-	1	1135	c.1037A>G	c.(1036-1038)aAg>aGg	p.K346R	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'UTR	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	346					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.K346R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTCCAGGCCCTTGTCCGTGAT	0.617																																																1	Substitution - Missense(1)	kidney(1)											131	111	118					12																	1702196		2203	4300	6503	SO:0001583	missense	144699			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.1037A>G	12.37:g.1702196T>C	ENSP00000344855:p.Lys346Arg			Missense_Mutation	SNP	ENST00000339235.3	37	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.373142	0.24857	.	.	ENSG00000171823	ENST00000339235	T	0.02345	4.33	4.85	3.71	0.42584	.	0.122706	0.56097	D	0.000026	T	0.02156	0.0067	N	0.17723	0.515	0.45318	D	0.998311	P	0.46395	0.877	B	0.40741	0.339	T	0.65994	-0.6033	10	0.15499	T	0.54	.	10.3027	0.43661	0.0:0.0775:0.0:0.9225	.	346	Q8N1E6	FXL14_HUMAN	R	346	ENSP00000344855:K346R	ENSP00000344855:K346R	K	-	2	0	FBXL14	1572457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.801000	0.85960	0.872000	0.35775	0.528000	0.53228	AAG		0.617	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		C	1702196	T	C	1702196	3	2	533	1	0	0	0	0	1	0	0	0	5712	1609	56	3	227	3	FBXL14	12	1702196	Missense_Mutation	SNP	T	TCGA-CJ-4916-01A-01D-1429-08		1702196	132149699	25	28525											
OR10AD1	121275	hgsc.bcm.edu	37	12	48596875	48596876	+	Frame_Shift_Ins	INS	-	-	A	rs79650217|rs144247841	byFrequency	TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr12:48596875_48596876insA	ENST00000310248.2	-	1	294_295	c.200_201insT	c.(199-201)ctgfs	p.L67fs		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						CCAGGAGAGACAGATGGCCGAG	0.525													A|A|AA|insertion	1017	0.203075	0.2716	0.1326	5008	,	,		22247	0.128		0.2346	False		,,,				2504	0.2055															0										1181,3083		178,825,1129						-0.6	1		dbSNP_129	109	1745,6509		176,1393,2558	no	frameshift	OR10AD1	NM_001004134.1		354,2218,3687	A1A1,A1R,RR		21.1413,27.697,23.3743				2926,9592				SO:0001589	frameshift_variant	121275				CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"GPCR / Class A : Olfactory receptors"	14819	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily AD, member 1 pseudogene"	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.201dupT	12.37:g.48596876_48596876dupA	ENSP00000308689:p.Leu67fs		B9EGT9|Q6IFA8	Frame_Shift_Ins	INS	ENST00000310248.2	37	CCDS31787.1																																																																																				0.525	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			A	48596876	-	A	48596875	7	5	533	1	0	1	1	0	0	0	0	0	10898	465	17	0	756	0	OR10AD1	12	48596875	Frame_Shift_Ins	INS	-	TCGA-CJ-4916-01A-01D-1429-08	46894679	48596875	85255020	26	28526											
ACACB	32	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109702175	109702175	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr12:109702175A>G	ENST00000338432.7	+	50	7045	c.6926A>G	c.(6925-6927)gAg>gGg	p.E2309G	ACACB_ENST00000377848.3_Missense_Mutation_p.E2309G|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.E2239G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2309					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.E2309G(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGGATGCTGGAGAAGGGCGTC	0.627											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											49	49	49					12																	109702175		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6926A>G	12.37:g.109702175A>G	ENSP00000341044:p.Glu2309Gly	1421	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.025174	0.93518	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	T;T;T	0.33654	1.4;1.4;1.4	4.65	4.65	0.58169	Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.86028	2.79	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.68085	-0.5502	10	0.51188	T	0.08	.	14.4118	0.67119	1.0:0.0:0.0:0.0	.	2309	O00763	ACACB_HUMAN	G	2309;2309;2239;1540;3	ENSP00000341044:E2309G;ENSP00000367079:E2309G;ENSP00000367085:E2239G	ENSP00000341044:E2309G	E	+	2	0	ACACB	108186558	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.339000	0.96797	1.880000	0.54463	0.459000	0.35465	GAG		0.627	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		G	109702175	A	G	109702175	3	3	533	1	0	0	0	0	1	0	0	0	107	304	11	3	7120	3	ACACB	12	109702175	Missense_Mutation	SNP	A	TCGA-CJ-4916-01A-01D-1429-08	61105300	109702175	24149720	27	28527											
PITPNM2	57605	broad.mit.edu;hgsc.bcm.edu	37	12	123471023	123471023	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr12:123471023A>G	ENST00000542749.1	-	23	3749	c.3686T>C	c.(3685-3687)aTc>aCc	p.I1229T	PITPNM2_ENST00000320201.4_Missense_Mutation_p.I1229T|PITPNM2_ENST00000392428.1_Missense_Mutation_p.I950T|PITPNM2_ENST00000280562.5_Missense_Mutation_p.I1223T			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1229					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.I1229T(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGGCCCACGATGTAGATCTG	0.682																																																1	Substitution - Missense(1)	kidney(1)											20	18	19					12																	123471023		2198	4291	6489	SO:0001583	missense	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3686T>C	12.37:g.123471023A>G	ENSP00000437611:p.Ile1229Thr		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830140	0.71258	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.23	4.09	0.47781	HAD-like domain (1);LNS2, Lipin/Ned1/Smp2 (2);	0.132348	0.49916	D	0.000128	D	0.87245	0.6129	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.975	D	0.87777	0.2609	10	0.72032	D	0.01	-36.2865	11.1602	0.48512	0.9273:0.0:0.0727:0.0	.	1223;1229	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	T	1223;1229;950;1229	ENSP00000280562:I1223T;ENSP00000322218:I1229T;ENSP00000376223:I950T;ENSP00000437611:I1229T	ENSP00000280562:I1223T	I	-	2	0	PITPNM2	122036976	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	5.310000	0.65780	0.955000	0.37878	0.459000	0.35465	ATC		0.682	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		G	123471023	A	G	123471023	3	3	533	1	0	0	0	0	1	0	0	0	11953	333	12	3	371	3	PITPNM2	12	123471023	Missense_Mutation	SNP	A	TCGA-CJ-4916-01A-01D-1429-08	13768848	123471023	10380872	28	28528											
DNAH10	196385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124270368	124270368	+	Missense_Mutation	SNP	T	T	A	rs199697349		TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr12:124270368T>A	ENST00000409039.3	+	9	1148	c.1123T>A	c.(1123-1125)Tgg>Agg	p.W375R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	375	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W375R(1)|p.W193R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCGGATGGTGTGGATCATCTC	0.577																																																2	Substitution - Missense(2)	kidney(2)											124	105	111					12																	124270368		2203	4300	6503	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1123T>A	12.37:g.124270368T>A	ENSP00000386770:p.Trp375Arg		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	30	5.055643	0.93793	.	.	ENSG00000197653	ENST00000409039	T	0.59364	0.27	5.82	5.82	0.92795	Dynein heavy chain, domain-1 (1);	0.000000	0.64402	D	0.000006	T	0.81384	0.4811	M	0.91717	3.235	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.85767	0.1353	10	0.87932	D	0	.	16.161	0.81712	0.0:0.0:0.0:1.0	.	375	Q8IVF4	DYH10_HUMAN	R	375	ENSP00000386770:W375R	ENSP00000386770:W375R	W	+	1	0	DNAH10	122836321	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.895000	0.87343	2.219000	0.72066	0.459000	0.35465	TGG		0.577	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			A	124270368	T	A	124270368	3	1	533	1	0	0	0	0	1	0	0	0	4600	1696	59	5	1157	5	DNAH10	12	124270368	Missense_Mutation	SNP	T	TCGA-CJ-4916-01A-01D-1429-08	799345	124270368	9581527	29	28529											
FAM179B	23116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45433179	45433179	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr14:45433179C>G	ENST00000361577.3	+	1	1769	c.1555C>G	c.(1555-1557)Ctt>Gtt	p.L519V	FAM179B_ENST00000382233.2_Missense_Mutation_p.L519V|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.L519V|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	519								p.L519V(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGCCCCAGCTCTTGTAGATAG	0.478																																																1	Substitution - Missense(1)	kidney(1)											125	114	118					14																	45433179		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1555C>G	14.37:g.45433179C>G	ENSP00000355045:p.Leu519Val		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045953	0.55110	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.66995	-0.24;-0.24;-0.24	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000016	T	0.75317	0.3833	L	0.51422	1.61	0.49051	D	0.999745	P;D;D;P	0.89917	0.942;0.998;1.0;0.942	D;D;D;D	0.85130	0.928;0.996;0.997;0.928	T	0.76862	-0.2802	10	0.72032	D	0.01	-10.6836	10.8007	0.46487	0.0:0.9122:0.0:0.0878	.	519;519;519;519	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	V	519	ENSP00000355045:L519V;ENSP00000354917:L519V;ENSP00000371668:L519V	ENSP00000354917:L519V	L	+	1	0	FAM179B	44502929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.701000	0.54793	2.379000	0.81126	0.561000	0.74099	CTT		0.478	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		G	45433179	C	G	45433179	3	3	533	1	0	0	0	0	1	0	0	0	5508	913	32	4	1557	4	FAM179B	14	45433179	Missense_Mutation	SNP	C	TCGA-CJ-4916-01A-01D-1429-08		45433179	61916361	30	28530											
PELI2	57161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	56757051	56757052	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr14:56757051_56757052GG>TT	ENST00000267460.4	+	5	859_860	c.573_574GG>TT	c.(571-576)ctGGtg>ctTTtg	p.V192L		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	192	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.L191L(1)|p.L191>?(1)|p.V192L(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ATGGCGTCCTGGTGATGCATCC	0.559																																																3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	57161			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"Pellino homologs"	8828	protein-coding gene	gene with protein product		614798	"pellino (Drosophila) homolog 2", "pellino homolog 2 (Drosophila)"			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	Exception_encountered	14.37:g.56757051_56757052delinsTT	ENSP00000267460:p.Val192Leu		B2RDY5	Silent|Missense_Mutation	SNP	ENST00000267460.4	37	CCDS9726.1																																																																																				0.559	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			TT	56757052	GG	TT	56757051	3	4	533	1	0	0	0	0	1	0	0	0	11724	1335	47	4	591	4	PELI2	14	56757051	Missense_Mutation	DNP	GG	TCGA-CJ-4916-01A-01D-1429-08	11323872	56757051	50592489	31	28531											
POMT2	29954	hgsc.bcm.edu;ucsc.edu	37	14	77767444	77767445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr14:77767444_77767445insG	ENST00000261534.4	-	6	1006_1007	c.804_805insC	c.(802-807)ctcagtfs	p.S269fs	POMT2_ENST00000556880.1_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	269						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AATGAAAGACTGAGGTCTCCGA	0.505											OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	29954			AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.805dupC	14.37:g.77767445_77767445dupG	ENSP00000261534:p.Ser269fs	1178	Q9NSG6|Q9P1W0|Q9P1W2	Frame_Shift_Ins	INS	ENST00000261534.4	37	CCDS9857.1																																																																																				0.505	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		G	77767445	-	G	77767444	7	5	533	1	0	1	1	0	0	0	0	0	12248	1580	55	0	1511	0	POMT2	14	77767444	Frame_Shift_Ins	INS	-	TCGA-CJ-4916-01A-01D-1429-08	21010393	77767444	29582096	32	28532											
SPATA5L1	79029	broad.mit.edu	37	15	45695510	45695510	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr15:45695510C>T	ENST00000305560.6	+	1	982	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R295C|GATM_ENST00000458245.5_5'Flank	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	295						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R295C(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		ACTGGCCAGCCGCGGACCCAG	0.716																																																1	Substitution - Missense(1)	kidney(1)											5	7	6					15																	45695510		2106	4134	6240	SO:0001583	missense	79029			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.883C>T	15.37:g.45695510C>T	ENSP00000305494:p.Arg295Cys		C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559097	0.65538	.	.	ENSG00000171763	ENST00000305560	D	0.95103	-3.61	4.9	2.93	0.34026	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.439680	0.23874	N	0.043709	D	0.94693	0.8288	M	0.64630	1.985	0.33129	D	0.542815	D	0.62365	0.991	P	0.59595	0.86	D	0.94473	0.7686	10	0.72032	D	0.01	-38.0285	5.9834	0.19419	0.3073:0.6009:0.0:0.0918	.	295	Q9BVQ7	SPA5L_HUMAN	C	295	ENSP00000305494:R295C	ENSP00000305494:R295C	R	+	1	0	SPATA5L1	43482802	0.994000	0.37717	0.922000	0.36590	0.564000	0.35744	2.520000	0.45554	1.289000	0.44618	-0.225000	0.12378	CGC		0.716	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		T	45695510	C	T	45695510	3	4	533	1	0	0	0	0	1	0	0	0	15017	652	23	1	885	1	SPATA5L1	15	45695510	Missense_Mutation	SNP	C	TCGA-CJ-4916-01A-01D-1429-08		45695510	56835882	33	28533											
ZNF423	23090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	49670844	49670844	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr16:49670844G>A	ENST00000561648.1	-	4	2272	c.2219C>T	c.(2218-2220)gCg>gTg	p.A740V	ZNF423_ENST00000562520.1_Missense_Mutation_p.A680V|ZNF423_ENST00000567169.1_Missense_Mutation_p.A623V|ZNF423_ENST00000262383.2_Missense_Mutation_p.A740V|ZNF423_ENST00000562871.1_Missense_Mutation_p.A680V|ZNF423_ENST00000535559.1_Missense_Mutation_p.A623V|ZNF423_ENST00000563137.2_Missense_Mutation_p.A680V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	740					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A740V(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGCTTCACCGCCAGGTGCAC	0.577																																																2	Substitution - Missense(2)	kidney(2)											108	97	100					16																	49670844		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2219C>T	16.37:g.49670844G>A	ENSP00000455426:p.Ala740Val		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941727	0.53079	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10668	2.85;2.88	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.105029	0.64402	D	0.000004	T	0.23965	0.0580	L	0.33668	1.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01692	-1.1294	9	.	.	.	.	18.4141	0.90562	0.0:0.0:1.0:0.0	.	740	Q2M1K9	ZN423_HUMAN	V	740;623	ENSP00000262383:A740V;ENSP00000442321:A623V	.	A	-	2	0	ZNF423	48228345	1.000000	0.71417	0.948000	0.38648	0.464000	0.32679	9.869000	0.99810	2.352000	0.79861	0.561000	0.74099	GCG		0.577	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		A	49670844	G	A	49670844	3	1	533	1	0	0	0	0	1	0	0	0	17903	1087	38	1	1655	1	ZNF423	16	49670844	Missense_Mutation	SNP	G	TCGA-CJ-4916-01A-01D-1429-08		49670844	40683909	34	28534											
TAF1C	9013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84216939	84216939	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr16:84216939T>C	ENST00000567759.1	-	5	501	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	TAF1C_ENST00000378541.4_Splice_Site_p.I107V|TAF1C_ENST00000341690.6_Splice_Site_p.I40V|TAF1C_ENST00000541676.1_Splice_Site_p.I40V|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000565544.1_5'Flank|TAF1C_ENST00000566732.1_Splice_Site_p.I107V	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	107					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.I107V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AACCGGCTGATCTGGGGAGAA	0.617																																																1	Substitution - Missense(1)	kidney(1)											69	56	60					16																	84216939		2200	4300	6500	SO:0001630	splice_region_variant	9013			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.319-1A>G	16.37:g.84216939T>C			B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.661378	0.29515	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.44083	0.93;0.93;0.93	4.93	1.81	0.25067	.	0.558317	0.15546	N	0.256668	T	0.29749	0.0743	L	0.36672	1.1	0.21915	N	0.999479	B;B;B;B	0.24920	0.048;0.048;0.114;0.048	B;B;B;B	0.24394	0.025;0.037;0.053;0.037	T	0.22556	-1.0213	10	0.59425	D	0.04	-16.8637	5.7646	0.18219	0.0942:0.0:0.547:0.3588	.	107;107;107;40	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	V	107;40;40;107	ENSP00000367802:I107V;ENSP00000437900:I40V;ENSP00000345305:I40V	ENSP00000345305:I40V	I	-	1	0	TAF1C	82774440	1.000000	0.71417	0.988000	0.46212	0.683000	0.39861	1.924000	0.40065	0.116000	0.18110	-0.445000	0.05633	ATC		0.617	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353	Missense_Mutation	C	84216939	T	C	84216939	5	2	533	1	0	0	0	0	0	0	1	0	15526	1449	50	3	2330	3	TAF1C	16	84216939	Splice_Site	SNP	T	TCGA-CJ-4916-01A-01D-1429-08	34546095	84216939	6137814	35	28535											
CCL3	6348	hgsc.bcm.edu;ucsc.edu	37	17	34417377	34417377	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr17:34417377C>A	ENST00000225245.5	-	1	110	c.28G>T	c.(28-30)Gtc>Ttc	p.V10F	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000592728.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	10					astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGAGGAGGACAGCAAGGGCA	0.552																																																0													262	185	211					17																	34417377		2203	4300	6503	SO:0001583	missense	6348			M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"Chemokine ligands", "Endogenous ligands"	10627	protein-coding gene	gene with protein product		182283	"small inducible cytokine A3 (homologous to mouse Mip-1a)"	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.28G>T	17.37:g.34417377C>A	ENSP00000225245:p.Val10Phe			Missense_Mutation	SNP	ENST00000225245.5	37	CCDS11307.1	.	.	.	.	.	.	.	.	.	.	.	8.996	0.978878	0.18812	.	.	ENSG00000006075	ENST00000225245	T	0.03035	4.07	5.68	-1.34	0.09143	.	0.743132	0.11996	N	0.509279	T	0.06508	0.0167	.	.	.	0.09310	N	1	P	0.45715	0.865	P	0.50617	0.646	T	0.32241	-0.9914	9	0.38643	T	0.18	.	8.8299	0.35078	0.0:0.4431:0.0:0.5569	.	10	P10147	CCL3_HUMAN	F	10	ENSP00000225245:V10F	ENSP00000225245:V10F	V	-	1	0	CCL3	31441490	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.592000	0.00898	-0.185000	0.10550	-0.845000	0.03042	GTC		0.552	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	NM_002983		A	34417377	C	A	34417377	3	1	533	1	0	0	0	0	1	0	0	0	2903	478	17	4	262	4	CCL3	17	34417377	Missense_Mutation	SNP	C	TCGA-CJ-4916-01A-01D-1429-08		34417377	46777833	36	28536											
C17orf47	284083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56620818	56620818	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr17:56620818G>T	ENST00000321691.3	-	1	911	c.730C>A	c.(730-732)Cct>Act	p.P244T	SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	244								p.P244T(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTTCTACAGGGACCCTTCTC	0.478																																																1	Substitution - Missense(1)	kidney(1)											94	101	98					17																	56620818		2203	4300	6503	SO:0001583	missense	284083				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.730C>A	17.37:g.56620818G>T	ENSP00000354874:p.Pro244Thr		Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882290	0.33255	.	.	ENSG00000181013	ENST00000321691	T	0.32272	1.46	5.06	-0.808	0.10868	.	0.730054	0.12306	N	0.480648	T	0.13713	0.0332	N	0.17082	0.46	0.09310	N	1	B	0.30851	0.297	B	0.27262	0.078	T	0.25710	-1.0124	10	0.21014	T	0.42	-1.106	4.8667	0.13611	0.1669:0.0:0.4173:0.4158	.	244	Q8NEP4	CQ047_HUMAN	T	244	ENSP00000354874:P244T	ENSP00000354874:P244T	P	-	1	0	C17orf47	53975817	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.889000	0.28282	-0.021000	0.14009	-0.251000	0.11542	CCT		0.478	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		T	56620818	G	T	56620818	3	4	533	1	0	0	0	0	1	0	0	0	1860	1232	43	4	990	4	C17orf47	17	56620818	Missense_Mutation	SNP	G	TCGA-CJ-4916-01A-01D-1429-08	22203441	56620818	24574392	37	28537											
TTYH2	94015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72233486	72233486	+	Silent	SNP	G	G	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr17:72233486G>T	ENST00000269346.4	+	4	542	c.468G>T	c.(466-468)cgG>cgT	p.R156R	TTYH2_ENST00000529107.1_Silent_p.R135R	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	156						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R156R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ACCTGGCCCGGCTCAGTGAGA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											93	94	93					17																	72233486		2203	4300	6503	SO:0001819	synonymous_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.468G>T	17.37:g.72233486G>T			B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	CCDS32717.1																																																																																				0.577	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			T	72233486	G	T	72233486	2	4	533	1	0	0	0	0	0	0	0	1	16745	1190	42	4		4	TTYH2	17	72233486	Silent	SNP	G	TCGA-CJ-4916-01A-01D-1429-08	15612668	72233486	8961724	38	28538											
DTNA	1837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	32459638	32459638	+	Missense_Mutation	SNP	G	G	T	rs150410546		TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr18:32459638G>T	ENST00000399113.3	+	19	2036	c.2036G>T	c.(2035-2037)gGg>gTg	p.G679V	DTNA_ENST00000601125.1_Missense_Mutation_p.G301V|DTNA_ENST00000283365.9_Missense_Mutation_p.G622V|DTNA_ENST00000591182.1_Missense_Mutation_p.G327V|DTNA_ENST00000595022.1_Missense_Mutation_p.G619V|DTNA_ENST00000598334.1_Missense_Mutation_p.G619V|DTNA_ENST00000556414.3_Missense_Mutation_p.G331V|DTNA_ENST00000444659.1_Missense_Mutation_p.G679V|DTNA_ENST00000399097.3_Missense_Mutation_p.G327V|DTNA_ENST00000269190.7_Missense_Mutation_p.G680V|DTNA_ENST00000399121.5_Missense_Mutation_p.G626V|DTNA_ENST00000269192.7_Missense_Mutation_p.G388V|DTNA_ENST00000590831.2_Missense_Mutation_p.G105V|DTNA_ENST00000598142.1_Missense_Mutation_p.G622V			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	679					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.G680V(1)|p.G679V(1)|p.G327V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CGAAAACCTGGGTACATTCAC	0.458																																																3	Substitution - Missense(3)	kidney(3)											81	74	77					18																	32459638		2203	4300	6503	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.2036G>T	18.37:g.32459638G>T	ENSP00000382064:p.Gly679Val		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363030	0.61403	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T	0.17528	2.27;2.28;2.28;2.28	4.79	4.79	0.61399	.	0.160044	0.44688	D	0.000431	T	0.26557	0.0649	N	0.14661	0.345	0.80722	D	1	D;B;B;P;D;P;D;D;D	0.89917	1.0;0.27;0.368;0.549;1.0;0.888;0.994;0.994;0.997	D;B;B;B;D;P;D;D;D	0.87578	0.992;0.264;0.122;0.196;0.998;0.615;0.99;0.99;0.996	T	0.18493	-1.0335	10	0.72032	D	0.01	-15.4121	16.4133	0.83726	0.0:0.0:1.0:0.0	.	331;388;369;679;622;327;626;630;622	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8;F5H5C1;Q9Y4J8-6;E9PEH8;Q59GK7;Q9Y4J8-2	.;.;.;DTNA_HUMAN;.;.;.;.;.	V	622;622;626;680;327;679;679;679;388;327;331	ENSP00000283365:G622V;ENSP00000269190:G680V;ENSP00000405819:G679V;ENSP00000382064:G679V	ENSP00000269190:G680V	G	+	2	0	DTNA	30713636	1.000000	0.71417	0.992000	0.48379	0.657000	0.38888	7.003000	0.76310	2.371000	0.80710	0.655000	0.94253	GGG		0.458	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		T	32459638	G	T	32459638	3	4	533	1	0	0	0	0	1	0	0	0	4790	1232	43	4	2200	4	DTNA	18	32459638	Missense_Mutation	SNP	G	TCGA-CJ-4916-01A-01D-1429-08		32459638	45617610	39	28539											
SERPINB10	5273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61600419	61600419	+	Silent	SNP	C	C	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr18:61600419C>T	ENST00000238508.3	+	7	830	c.771C>T	c.(769-771)gaC>gaT	p.D257D		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	257					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D257D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TGCCAGAAGACATTAATGGGC	0.428																																																1	Substitution - coding silent(1)	kidney(1)											118	131	127					18																	61600419		2203	4300	6503	SO:0001819	synonymous_variant	5273			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.771C>T	18.37:g.61600419C>T			Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	37	CCDS11990.1																																																																																				0.428	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		T	61600419	C	T	61600419	2	4	533	1	0	0	0	0	0	0	0	1	14103	477	17	2		2	SERPINB10	18	61600419	Silent	SNP	C	TCGA-CJ-4916-01A-01D-1429-08	29140781	61600419	16476829	40	28540											
GAPDHS	26330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36029250	36029250	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr19:36029250A>G	ENST00000222286.4	+	3	403	c.287A>G	c.(286-288)gAg>gGg	p.E96G	AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	96					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)	p.E96G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCTGCATGGAGAAGGGTGTT	0.592																																																1	Substitution - Missense(1)	kidney(1)											88	62	71					19																	36029250		2203	4299	6502	SO:0001583	missense	26330			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.287A>G	19.37:g.36029250A>G	ENSP00000222286:p.Glu96Gly		B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	37	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792655	0.70452	.	.	ENSG00000105679	ENST00000222286	T	0.30448	1.53	5.3	4.27	0.50696	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.203915	0.42294	D	0.000726	T	0.24624	0.0597	L	0.38649	1.16	0.51767	D	0.999935	B	0.33413	0.411	B	0.33521	0.165	T	0.03157	-1.1066	10	0.45353	T	0.12	-31.2558	10.5052	0.44830	0.8366:0.1634:0.0:0.0	.	96	O14556	G3PT_HUMAN	G	96	ENSP00000222286:E96G	ENSP00000222286:E96G	E	+	2	0	GAPDHS	40721090	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.253000	0.78320	0.812000	0.34326	0.533000	0.62120	GAG		0.592	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		G	36029250	A	G	36029250	3	3	533	1	0	0	0	0	1	0	0	0	6239	304	11	3	297	3	GAPDHS	19	36029250	Missense_Mutation	SNP	A	TCGA-CJ-4916-01A-01D-1429-08		36029250	23099733	41	28541											
AXL	558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41727096	41727096	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr19:41727096G>C	ENST00000301178.4	+	3	544	c.354G>C	c.(352-354)ttG>ttC	p.L118F	AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.L118F|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	118	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L118F(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ACCAGTGTTTGGTGTTTCTGG	0.587																																																1	Substitution - Missense(1)	kidney(1)											156	123	134					19																	41727096		2203	4300	6503	SO:0001583	missense	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.354G>C	19.37:g.41727096G>C	ENSP00000301178:p.Leu118Phe		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413993	0.25465	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.65732	-0.17;-0.17	4.74	-8.74	0.00838	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.617192	0.14955	N	0.288667	T	0.33411	0.0862	L	0.31845	0.965	0.09310	N	1	P;P	0.41929	0.722;0.765	B;B	0.35770	0.134;0.21	T	0.23190	-1.0195	10	0.62326	D	0.03	-0.093	1.5669	0.02606	0.1577:0.2273:0.3345:0.2806	.	118;118	P30530-2;P30530	.;UFO_HUMAN	F	118	ENSP00000301178:L118F;ENSP00000351995:L118F	ENSP00000301178:L118F	L	+	3	2	AXL	46418936	0.000000	0.05858	0.002000	0.10522	0.308000	0.27856	-2.170000	0.01268	-0.848000	0.04163	0.306000	0.20318	TTG		0.587	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			C	41727096	G	C	41727096	3	2	533	1	0	0	0	0	1	0	0	0	1238	1339	47	4	364	4	AXL	19	41727096	Missense_Mutation	SNP	G	TCGA-CJ-4916-01A-01D-1429-08	5697846	41727096	17401887	42	28542											
PPP1R13L	10848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45901534	45901534	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr19:45901534T>C	ENST00000418234.2	-	2	121	c.43A>G	c.(43-45)Atg>Gtg	p.M15V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.M15V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	15					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.M15V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGGAAGTTCATGTCCAGAAAG	0.711																																					Pancreas(61;1447 1663 31419 50578)											1	Substitution - Missense(1)	kidney(1)											32	37	35					19																	45901534		2202	4300	6502	SO:0001583	missense	10848			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.43A>G	19.37:g.45901534T>C	ENSP00000403902:p.Met15Val		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.773611	0.31411	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.53423	0.62;0.62	4.17	-2.18	0.07037	.	0.431311	0.24350	N	0.039284	T	0.19644	0.0472	N	0.08118	0	0.19775	N	0.999957	B;B	0.12013	0.005;0.0	B;B	0.11329	0.006;0.001	T	0.06899	-1.0801	10	0.39692	T	0.17	.	3.7689	0.08633	0.2012:0.0:0.3091:0.4897	.	15;15	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	V	15	ENSP00000403902:M15V;ENSP00000354218:M15V	ENSP00000354218:M15V	M	-	1	0	PPP1R13L	50593374	0.967000	0.33354	0.995000	0.50966	0.798000	0.45092	-0.159000	0.10056	-0.125000	0.11703	-1.540000	0.00911	ATG		0.711	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		C	45901534	T	C	45901534	3	2	533	1	0	0	0	0	1	0	0	0	12363	1464	51	3	2491	3	PPP1R13L	19	45901534	Missense_Mutation	SNP	T	TCGA-CJ-4916-01A-01D-1429-08	4174438	45901534	13227449	43	28543											
NTF4	4909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49564851	49564851	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr19:49564851T>C	ENST00000593537.1	-	1	403	c.404A>G	c.(403-405)tAc>tGc	p.Y135C	CGB7_ENST00000597853.1_5'Flank|CGB7_ENST00000356213.4_5'Flank|NTF4_ENST00000301411.3_Missense_Mutation_p.Y135C|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000451356.2_Intron|CTB-60B18.12_ENST00000597865.1_RNA|NTF4_ENST00000594938.1_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4	135					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)	p.Y135C(1)		kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		TTCAAAGAAGTACTGGCGGAG	0.677																																																1	Substitution - Missense(1)	kidney(1)											34	38	36					19																	49564851		2203	4300	6503	SO:0001583	missense	4909				CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"Endogenous ligands"	8024	protein-coding gene	gene with protein product	"neurotrophic factor 4"	162662	"neurotrophin 5 (neurotrophin 4/5)"	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.404A>G	19.37:g.49564851T>C	ENSP00000469455:p.Tyr135Cys		Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938002	0.52972	.	.	ENSG00000167744	ENST00000301411	T	0.75704	-0.96	3.11	3.11	0.35812	Nerve growth factor-related (5);	0.095628	0.43919	D	0.000503	D	0.84106	0.5399	M	0.78049	2.395	0.48830	D	0.999714	D	0.89917	1.0	D	0.79108	0.992	D	0.85874	0.1418	10	0.87932	D	0	-14.224	11.225	0.48877	0.0:0.0:0.0:1.0	.	135	P34130	NTF4_HUMAN	C	135	ENSP00000301411:Y135C	ENSP00000301411:Y135C	Y	-	2	0	NTF4	54256663	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.458000	0.45014	1.678000	0.50952	0.260000	0.18958	TAC		0.677	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179		C	49564851	T	C	49564851	3	2	533	1	0	0	0	0	1	0	0	0	10699	1638	57	3	232	3	NTF4	19	49564851	Missense_Mutation	SNP	T	TCGA-CJ-4916-01A-01D-1429-08	3663317	49564851	9564132	44	28544											
KAL1	3730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	8504907	8504907	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chrX:8504907C>A	ENST00000262648.3	-	11	1675	c.1526G>T	c.(1525-1527)aGt>aTt	p.S509I	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	509	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S509I(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CTTGGAGTGACTTTTTGGCCG	0.453																																																1	Substitution - Missense(1)	kidney(1)											136	111	119					X																	8504907		2203	4300	6503	SO:0001583	missense	3730				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1526G>T	X.37:g.8504907C>A	ENSP00000262648:p.Ser509Ile		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266629	0.23136	.	.	ENSG00000011201	ENST00000262648	T	0.53857	0.6	3.99	3.99	0.46301	Fibronectin, type III (2);	0.446929	0.26119	N	0.026234	T	0.45836	0.1362	L	0.29908	0.895	0.23916	N	0.996477	B	0.33512	0.415	B	0.42625	0.393	T	0.46803	-0.9165	10	0.87932	D	0	-12.1613	8.6593	0.34081	0.0:0.891:0.0:0.109	.	509	P23352	KALM_HUMAN	I	509	ENSP00000262648:S509I	ENSP00000262648:S509I	S	-	2	0	KAL1	8464907	1.000000	0.71417	0.003000	0.11579	0.241000	0.25554	3.903000	0.56318	1.609000	0.50190	0.594000	0.82650	AGT		0.453	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		A	8504907	C	A	8504907	3	1	533	1	0	0	0	0	1	0	0	0	7976	565	20	4	532	4	KAL1	23	8504907	Missense_Mutation	SNP	C	TCGA-CJ-4916-01A-01D-1429-08		8504907	146765653	45	28545											
CENPI	2491	broad.mit.edu;hgsc.bcm.edu	37	X	100381784	100381784	+	Silent	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chrX:100381784G>A	ENST00000372927.1	+	8	1051	c.774G>A	c.(772-774)aaG>aaA	p.K258K	CENPI_ENST00000218507.5_Silent_p.K258K|CENPI_ENST00000423383.1_Silent_p.K258K|CENPI_ENST00000372926.1_Silent_p.K258K	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	258					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.K258K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CTGTAAGGAAGAAGGTAAGGG	0.343																																																1	Substitution - coding silent(1)	kidney(1)											195	187	190					X																	100381784		2203	4300	6503	SO:0001819	synonymous_variant	2491			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.774G>A	X.37:g.100381784G>A			Q5JWZ9|Q96ED0	Silent	SNP	ENST00000372927.1	37	CCDS14479.1																																																																																				0.343	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		A	100381784	G	A	100381784	2	1	533	1	0	0	0	0	0	0	0	1	3235	933	33	2		2	CENPI	23	100381784	Silent	SNP	G	TCGA-CJ-4916-01A-01D-1429-08	91876877	100381784	54888776	46	28546											
TCEAL2	140597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101382231	101382231	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chrX:101382231C>A	ENST00000372780.1	+	3	648	c.429C>A	c.(427-429)aaC>aaA	p.N143K	TCEAL2_ENST00000329035.2_Missense_Mutation_p.N143K	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.N143K(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GAAAAACCAACAAGGGGCTGG	0.468																																																1	Substitution - Missense(1)	kidney(1)											114	112	112					X																	101382231		2203	4300	6503	SO:0001583	missense	140597			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.429C>A	X.37:g.101382231C>A	ENSP00000361866:p.Asn143Lys		B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070145	0.36566	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.07567	3.18;3.18	3.43	0.619	0.17630	.	0.277746	0.25801	N	0.028216	T	0.15305	0.0369	M	0.63428	1.95	0.09310	N	1	D	0.56287	0.975	P	0.56823	0.807	T	0.05649	-1.0872	10	0.66056	D	0.02	.	5.2692	0.15615	0.0:0.5739:0.0:0.4261	.	143	Q9H3H9	TCAL2_HUMAN	K	143	ENSP00000361866:N143K;ENSP00000332359:N143K	ENSP00000332359:N143K	N	+	3	2	TCEAL2	101268887	0.410000	0.25376	0.020000	0.16555	0.796000	0.44982	0.375000	0.20518	0.005000	0.14708	-0.198000	0.12761	AAC		0.468	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		A	101382231	C	A	101382231	3	1	533	1	0	0	0	0	1	0	0	0	15676	477	17	4	431	4	TCEAL2	23	101382231	Missense_Mutation	SNP	C	TCGA-CJ-4916-01A-01D-1429-08	1000447	101382231	53888329	47	28547											
STAG2	10735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123179154	123179154	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chrX:123179154T>G	ENST00000371160.1	+	8	893	c.603T>G	c.(601-603)atT>atG	p.I201M	STAG2_ENST00000354548.5_Missense_Mutation_p.I132M|STAG2_ENST00000371145.3_Missense_Mutation_p.I201M|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.I201M|STAG2_ENST00000371144.3_Missense_Mutation_p.I201M|STAG2_ENST00000371157.3_Missense_Mutation_p.I201M	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	201					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.I201M(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATACAGTCATTTCACTTCTTA	0.368																																																2	Substitution - Missense(2)	kidney(2)											181	173	176					X																	123179154		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.603T>G	X.37:g.123179154T>G	ENSP00000360202:p.Ile201Met		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329380	0.60743	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000435215	T;T;T;T;T;T;T;T	0.43688	0.94;1.48;1.48;1.48;1.48;0.94;1.48;0.94	4.74	3.58	0.41010	STAG (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	M	0.87758	2.905	0.54753	D	0.999985	D;D	0.61080	0.987;0.989	D;D	0.68943	0.935;0.961	T	0.60556	-0.7240	10	0.52906	T	0.07	-4.188	5.1471	0.14991	0.1603:0.0871:0.0:0.7527	.	201;201	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	M	201;201;132;201;201;201;201;201	ENSP00000218089:I201M;ENSP00000397265:I201M;ENSP00000346555:I132M;ENSP00000360202:I201M;ENSP00000360199:I201M;ENSP00000360187:I201M;ENSP00000360186:I201M;ENSP00000392118:I201M	ENSP00000218089:I201M	I	+	3	3	STAG2	123006835	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.643000	0.24750	0.597000	0.29811	0.345000	0.21793	ATT		0.368	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		G	123179154	T	G	123179154	3	3	533	1	0	0	0	0	1	0	0	0	15248	1829	64	5	625	5	STAG2	23	123179154	Missense_Mutation	SNP	T	TCGA-CJ-4916-01A-01D-1429-08	21796923	123179154	32091406	48	28548											
TNFRSF9	3604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	7998781	7998781	+	Splice_Site	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:7998781C>A	ENST00000377507.3	-	3	374	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	70					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398																																																1	Substitution - Missense(1)	kidney(1)											176	178	177					1																	7998781		2203	4300	6503	SO:0001630	splice_region_variant	3604			L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"Tumor necrosis factor receptor superfamily", "CD molecules"	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.208+1G>T	1.37:g.7998781C>A				Missense_Mutation	SNP	ENST00000377507.3	37	CCDS92.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596826	0.46318	.	.	ENSG00000049249	ENST00000377507	D	0.98178	-4.77	5.39	5.39	0.77823	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	L	0.47190	1.495	0.48341	D	0.99963	D	0.89917	1.0	D	0.97110	1.0	D	0.97864	1.0282	9	.	.	.	-25.1718	15.0045	0.71501	0.0:1.0:0.0:0.0	.	70	Q07011	TNR9_HUMAN	C	70	ENSP00000366729:G70C	.	G	-	1	0	TNFRSF9	7921368	1.000000	0.71417	0.999000	0.59377	0.022000	0.10575	3.442000	0.52900	2.698000	0.92095	0.563000	0.77884	GGT		0.398	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		Missense_Mutation	A	7998781	C	A	7998781	5	1	534	1	0	0	0	0	0	0	1	0	16305	695	24	4	583	4	TNFRSF9	1	7998781	Splice_Site	SNP	C	TCGA-CJ-4918-01A-01D-1429-08		7998781	241251840	1	28549											
ARHGEF10L	55160	broad.mit.edu;hgsc.bcm.edu	37	1	17990994	17990994	+	Silent	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:17990994C>A	ENST00000361221.3	+	26	3072	c.2913C>A	c.(2911-2913)ccC>ccA	p.P971P	ARHGEF10L_ENST00000375415.1_Silent_p.P932P|ARHGEF10L_ENST00000167825.4_Silent_p.P674P|ARHGEF10L_ENST00000375408.3_Silent_p.P744P|ARHGEF10L_ENST00000452522.1_Silent_p.P932P|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Silent_p.P966P	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	971						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P971P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGTGGGGCCCGGGCCTGTCC	0.692																																																2	Substitution - coding silent(2)	kidney(2)											40	42	41					1																	17990994		2202	4299	6501	SO:0001819	synonymous_variant	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2913C>A	1.37:g.17990994C>A			B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	CCDS182.1																																																																																				0.692	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		A	17990994	C	A	17990994	2	1	534	1	0	0	0	0	0	0	0	1	895	639	23	4		4	ARHGEF10L	1	17990994	Silent	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	9992213	17990994	231259627	2	28550											
PTPRU	10076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29638000	29638000	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:29638000C>G	ENST00000345512.3	+	21	3049	c.2920C>G	c.(2920-2922)Cgt>Ggt	p.R974G	PTPRU_ENST00000428026.2_Missense_Mutation_p.R964G|PTPRU_ENST00000460170.2_Missense_Mutation_p.R970G|PTPRU_ENST00000323874.8_Missense_Mutation_p.R970G|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Missense_Mutation_p.R970G|PTPRU_ENST00000373779.3_Missense_Mutation_p.R964G	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	974	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R970G(2)|p.R974G(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGACTTCTGGCGTATGGTGTG	0.627																																																3	Substitution - Missense(3)	kidney(3)											119	99	106					1																	29638000		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2920C>G	1.37:g.29638000C>G	ENSP00000334941:p.Arg974Gly		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683631	0.68157	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	4.76	3.78	0.43462	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	H	0.98089	4.145	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.83033	-0.0161	9	.	.	.	.	14.2047	0.65728	0.1495:0.8505:0.0:0.0	.	964;970;964;970;974	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	G	974;964;970;970;964;970	ENSP00000334941:R974G;ENSP00000362884:R964G;ENSP00000349333:R970G;ENSP00000314987:R970G;ENSP00000392332:R964G;ENSP00000432906:R970G	.	R	+	1	0	PTPRU	29510587	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.428000	0.44749	2.640000	0.89533	0.655000	0.94253	CGT		0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			G	29638000	C	G	29638000	3	3	534	1	0	0	0	0	1	0	0	0	12819	768	27	4	3024	4	PTPRU	1	29638000	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	11647006	29638000	219612621	3	28551											
LRRIQ3	127255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	74507303	74507303	+	Missense_Mutation	SNP	C	C	T	rs267598713		TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:74507303C>T	ENST00000395089.1	-	6	1311	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.E438K			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	438								p.E438K(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTACTTTTTCTTTATGGTAT	0.343																																																1	Substitution - Missense(1)	kidney(1)											196	180	185					1																	74507303		1844	4094	5938	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1312G>A	1.37:g.74507303C>T	ENSP00000378524:p.Glu438Lys		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	8.947	0.967146	0.18659	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.08193	3.12;3.12	5.77	-0.159	0.13379	.	1.159810	0.06407	N	0.719931	T	0.00936	0.0031	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47235	-0.9133	10	0.10377	T	0.69	.	5.0582	0.14544	0.0:0.3762:0.1603:0.4636	.	438	A6PVS8	LRIQ3_HUMAN	K	438	ENSP00000378524:E438K;ENSP00000346414:E438K	ENSP00000346414:E438K	E	-	1	0	LRRIQ3	74279891	0.017000	0.18338	0.001000	0.08648	0.008000	0.06430	-0.031000	0.12287	0.030000	0.15379	-0.291000	0.09656	GAA		0.343	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		T	74507303	C	T	74507303	3	4	534	1	0	0	0	0	1	0	0	0	9032	922	32	2	570	2	LRRIQ3	1	74507303	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	44869303	74507303	174743318	4	28552											
BCAR3	8412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94057948	94057948	+	Silent	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:94057948G>A	ENST00000370244.1	-	6	648	c.360C>T	c.(358-360)ttC>ttT	p.F120F	BCAR3_ENST00000370247.3_Silent_p.F29F|RP5-1033H22.2_ENST00000446684.1_RNA|RP5-1033H22.2_ENST00000417401.1_RNA|RP5-1033H22.2_ENST00000412628.1_RNA|RP5-1033H22.2_ENST00000427243.1_RNA|BCAR3_ENST00000370243.1_Silent_p.F120F|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000260502.6_Silent_p.F120F	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	120					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.F120F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCTCCTTGGAGAACTGCAACA	0.592																																																1	Substitution - coding silent(1)	kidney(1)											73	71	72					1																	94057948		2203	4300	6503	SO:0001819	synonymous_variant	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.360C>T	1.37:g.94057948G>A			D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	CCDS745.1																																																																																				0.592	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			A	94057948	G	A	94057948	2	1	534	1	0	0	0	0	0	0	0	1	1349	933	33	2		2	BCAR3	1	94057948	Silent	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	19550645	94057948	155192673	5	28553											
NUP210L	91181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154029322	154029322	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:154029322C>T	ENST00000368559.3	-	23	3280	c.3209G>A	c.(3208-3210)aGa>aAa	p.R1070K	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1070K|NUP210L_ENST00000368553.1_Missense_Mutation_p.R3K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1070					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.R1070K(1)|p.R1070I(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTGTATTTTCTTCCCATCTT	0.378																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											157	143	147					1																	154029322		1875	4116	5991	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3209G>A	1.37:g.154029322C>T	ENSP00000357547:p.Arg1070Lys		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362906	0.41902	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.26518	3.47;1.73;3.23	4.95	4.02	0.46733	.	0.086330	0.50627	N	0.000112	T	0.08358	0.0208	M	0.64997	1.995	0.26817	N	0.968877	B;B	0.09022	0.001;0.002	B;B	0.08055	0.002;0.003	T	0.34054	-0.9844	10	0.09338	T	0.73	-32.6142	8.5269	0.33311	0.0:0.7627:0.1531:0.0842	.	1070;1070	E7EP56;Q5VU65	.;P210L_HUMAN	K	1070;3;1070	ENSP00000357547:R1070K;ENSP00000357541:R3K;ENSP00000271854:R1070K	ENSP00000271854:R1070K	R	-	2	0	NUP210L	152295946	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	2.189000	0.42621	1.268000	0.44264	0.650000	0.86243	AGA		0.378	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		T	154029322	C	T	154029322	3	4	534	1	0	0	0	0	1	0	0	0	10763	913	32	2	2529	2	NUP210L	1	154029322	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	59971374	154029322	95221299	6	28554											
RABGAP1L	9910	hgsc.bcm.edu;ucsc.edu	37	1	174781011	174781011	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:174781011delT	ENST00000251507.4	+	19	2427	c.2253delT	c.(2251-2253)gctfs	p.A751fs	RABGAP1L_ENST00000489615.1_Frame_Shift_Del_p.A70fs|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000325589.5_Frame_Shift_Del_p.A58fs|RABGAP1L_ENST00000367687.1_Frame_Shift_Del_p.A77fs|RABGAP1L_ENST00000347255.2_Frame_Shift_Del_p.A78fs	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTGAAGGTGCTTTAAAGTTCT	0.393																																																0													87	89	88					1																	174781011		2203	4300	6503	SO:0001589	frameshift_variant	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.2253delT	1.37:g.174781011delT	ENSP00000251507:p.Ala751fs		B7ZAA4	Frame_Shift_Del	DEL	ENST00000251507.4	37	CCDS1314.1																																																																																				0.393	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		-	174781011	T	-	174781011	7	5	534	1	0	1	0	1	0	0	0	0	12971	1596	56	0	2323	0	RABGAP1L	1	174781011	Frame_Shift_Del	DEL	T	TCGA-CJ-4918-01A-01D-1429-08	20751689	174781011	74469610	7	28555											
TPR	7175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186327744	186327744	+	Silent	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:186327744G>A	ENST00000367478.4	-	13	1724	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	476	Necessary for association to the NPC.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.N476N(1)|p.N477N(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATGATTGCTTGTTGGCTTTAT	0.313			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - coding silent(2)	kidney(2)											199	181	186					1																	186327744		1890	4132	6022	SO:0001819	synonymous_variant	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1428C>T	1.37:g.186327744G>A			Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	CCDS41446.1																																																																																				0.313	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		A	186327744	G	A	186327744	2	1	534	1	0	0	0	0	0	0	0	1	16421	1368	48	2		2	TPR	1	186327744	Silent	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	11546733	186327744	62922877	8	28556											
NUAK2	81788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205272654	205272654	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:205272654C>T	ENST00000367157.3	-	7	1937	c.1811G>A	c.(1810-1812)tGc>tAc	p.C604Y		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.C604Y(2)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGGGAAAAGCAGCTGTCCCC	0.632																																																2	Substitution - Missense(2)	kidney(2)											53	53	53					1																	205272654		2203	4300	6503	SO:0001583	missense	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1811G>A	1.37:g.205272654C>T	ENSP00000356125:p.Cys604Tyr			Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565953	0.45694	.	.	ENSG00000163545	ENST00000367157	T	0.72051	-0.62	4.94	4.03	0.46877	.	0.000000	0.47455	D	0.000229	T	0.68595	0.3018	L	0.54323	1.7	0.38585	D	0.95028	D	0.57899	0.981	P	0.45712	0.491	T	0.73613	-0.3927	10	0.56958	D	0.05	.	12.9314	0.58288	0.0:0.9196:0.0:0.0804	.	604	Q9H093	NUAK2_HUMAN	Y	604	ENSP00000356125:C604Y	ENSP00000356125:C604Y	C	-	2	0	NUAK2	203539277	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	4.072000	0.57563	1.079000	0.41038	0.298000	0.19748	TGC		0.632	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		T	205272654	C	T	205272654	3	4	534	1	0	0	0	0	1	0	0	0	10715	710	25	2	79	2	NUAK2	1	205272654	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	18944910	205272654	43977967	9	28557											
TRAF5	7188	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	211545865	211545865	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:211545865T>A	ENST00000261464.5	+	11	1549	c.1495T>A	c.(1495-1497)Ttc>Atc	p.F499I	TRAF5_ENST00000427925.2_Missense_Mutation_p.F393I|TRAF5_ENST00000336184.2_Missense_Mutation_p.F499I|TRAF5_ENST00000367004.3_Missense_Mutation_p.F499I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	499	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F499I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TATGGAGACCTTCAAACCTGA	0.498																																																1	Substitution - Missense(1)	kidney(1)											92	83	86					1																	211545865		2203	4300	6503	SO:0001583	missense	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1495T>A	1.37:g.211545865T>A	ENSP00000261464:p.Phe499Ile		B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	T	32	5.124026	0.94429	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.51	5.51	0.81932	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.61703	1.905	0.58432	D	0.999997	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.999	T	0.64980	-0.6279	10	0.62326	D	0.03	-8.2752	15.907	0.79439	0.0:0.0:0.0:1.0	.	393;510;499	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	I	499;393;499;499	ENSP00000336825:F499I;ENSP00000389891:F393I;ENSP00000261464:F499I;ENSP00000355971:F499I	ENSP00000261464:F499I	F	+	1	0	TRAF5	209612488	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.708000	0.84633	2.210000	0.71456	0.528000	0.53228	TTC		0.498	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		A	211545865	T	A	211545865	3	1	534	1	0	0	0	0	1	0	0	0	16449	1609	56	5	1533	5	TRAF5	1	211545865	Missense_Mutation	SNP	T	TCGA-CJ-4918-01A-01D-1429-08	6273211	211545865	37704756	10	28558											
FMN2	56776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	240370231	240370231	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr1:240370231G>T	ENST00000319653.9	+	5	2349	c.2119G>T	c.(2119-2121)Ggt>Tgt	p.G707C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	707					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G850C(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGTGGCCAGTGGTCATCAAGG	0.483																																																1	Substitution - Missense(1)	kidney(1)											72	71	72					1																	240370231		2203	4300	6503	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2119G>T	1.37:g.240370231G>T	ENSP00000318884:p.Gly707Cys		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	8.216	0.801496	0.16397	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.27256	1.68	5.03	-2.3	0.06785	.	0.843084	0.10500	N	0.667345	T	0.19967	0.0480	L	0.57536	1.79	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.34378	-0.9831	10	0.66056	D	0.02	.	2.1548	0.03809	0.2732:0.3253:0.2921:0.1094	.	707	Q9NZ56	FMN2_HUMAN	C	144;707	ENSP00000318884:G707C	ENSP00000318884:G707C	G	+	1	0	FMN2	238436854	0.009000	0.17119	0.002000	0.10522	0.011000	0.07611	0.574000	0.23714	-0.657000	0.05373	0.655000	0.94253	GGT		0.483	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		T	240370231	G	T	240370231	3	4	534	1	0	0	0	0	1	0	0	0	5952	1348	47	4	2137	4	FMN2	1	240370231	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	28824366	240370231	8880390	11	28559											
ITSN2	50618	hgsc.bcm.edu;ucsc.edu	37	2	24435589	24435589	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:24435589delC	ENST00000355123.4	-	33	4462	c.4019delG	c.(4018-4020)ggafs	p.G1340fs	ITSN2_ENST00000361999.3_Frame_Shift_Del_p.G1313fs|AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1340	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGGCATTCCTTTACACCG	0.567																																																0													121	119	119					2																	24435589		2203	4300	6503	SO:0001589	frameshift_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4019delG	2.37:g.24435589delC	ENSP00000347244:p.Gly1340fs		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Del	DEL	ENST00000355123.4	37	CCDS1710.2																																																																																				0.567	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		-	24435589	C	-	24435589	7	5	534	1	0	1	0	1	0	0	0	0	7929	855	30	0	1106	0	ITSN2	2	24435589	Frame_Shift_Del	DEL	C	TCGA-CJ-4918-01A-01D-1429-08		24435589	218763784	12	28560											
EML4	27436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	42472705	42472705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:42472705C>A	ENST00000318522.5	+	2	348	c.86C>A	c.(85-87)tCa>tAa	p.S29*	EML4_ENST00000482660.1_3'UTR|EML4_ENST00000402711.2_Nonsense_Mutation_p.S29*|EML4_ENST00000401738.3_Nonsense_Mutation_p.S29*	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	29					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.S29*(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCTCTTGAGTCACGAGTTCAG	0.388			T	ALK	NSCLC																																		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	1	Substitution - Nonsense(1)	kidney(1)											107	96	100					2																	42472705		2203	4300	6503	SO:0001587	stop_gained	27436			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.86C>A	2.37:g.42472705C>A	ENSP00000320663:p.Ser29*		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Nonsense_Mutation	SNP	ENST00000318522.5	37	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709406	0.89018	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	.	.	.	5.77	3.23	0.37069	.	0.142200	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-3.0046	9.0161	0.36170	0.0:0.1677:0.0:0.8323	.	.	.	.	X	29	.	ENSP00000320663:S29X	S	+	2	0	EML4	42326209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.313000	0.59160	0.459000	0.27016	-0.225000	0.12378	TCA		0.388	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		A	42472705	C	A	42472705	4	1	534	1	0	0	0	0	0	1	0	0	5101	838	29	4	92	4	EML4	2	42472705	Nonsense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	18037116	42472705	200726668	13	28561											
C2orf86	51057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63631341	63631341	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:63631341A>T	ENST00000272321.7	-	10	1804	c.1277T>A	c.(1276-1278)cTg>cAg	p.L426Q	WDPCP_ENST00000409562.3_Missense_Mutation_p.L426Q|WDPCP_ENST00000398544.3_Missense_Mutation_p.L267Q|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Missense_Mutation_p.L234Q|WDPCP_ENST00000409120.1_Missense_Mutation_p.L234Q	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	426					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L426Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						ACTGAATTGCAGAGTCTCCCT	0.438																																																1	Substitution - Missense(1)	kidney(1)											93	91	92					2																	63631341		1932	4131	6063	SO:0001583	missense	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1277T>A	2.37:g.63631341A>T	ENSP00000272321:p.Leu426Gln		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229543	0.79688	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.52	5.52	0.82312	.	0.087961	0.47852	D	0.000216	T	0.76856	0.4046	M	0.78637	2.42	0.50467	D	0.999877	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.996;0.939;0.997;0.99	T	0.80216	-0.1474	10	0.87932	D	0	-4.5516	15.9357	0.79704	1.0:0.0:0.0:0.0	.	234;426;426;267	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	Q	426;234;234;267;426	ENSP00000272321:L426Q;ENSP00000386592:L234Q;ENSP00000386769:L234Q;ENSP00000381552:L267Q;ENSP00000387222:L426Q	ENSP00000272321:L426Q	L	-	2	0	WDPCP	63484845	0.983000	0.35010	0.999000	0.59377	0.962000	0.63368	8.007000	0.88571	2.218000	0.71995	0.482000	0.46254	CTG		0.438	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		T	63631341	A	T	63631341	3	4	534	1	0	0	0	0	1	0	0	0	2203	188	7	5	999	5	C2orf86	2	63631341	Missense_Mutation	SNP	A	TCGA-CJ-4918-01A-01D-1429-08	21158636	63631341	179568032	14	28562											
CYP26B1	56603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	72371136	72371136	+	Silent	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:72371136G>T	ENST00000001146.2	-	2	614	c.411C>A	c.(409-411)atC>atA	p.I137I	CYP26B1_ENST00000412253.1_5'Flank|CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	137					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.I137I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGTTGCGGTGGATGTCGCCAA	0.627																																																1	Substitution - coding silent(1)	kidney(1)											58	58	58					2																	72371136		2203	4300	6503	SO:0001819	synonymous_variant	56603				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.411C>A	2.37:g.72371136G>T			B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	CCDS1919.1																																																																																				0.627	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		T	72371136	G	T	72371136	2	4	534	1	0	0	0	0	0	0	0	1	4158	1164	41	4		4	CYP26B1	2	72371136	Silent	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	8739795	72371136	170828237	15	28563											
ALMS1	7840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73746997	73746997	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:73746997C>A	ENST00000264448.6	+	11	9743	c.9632C>A	c.(9631-9633)aCc>aAc	p.T3211N	ALMS1_ENST00000409009.1_Missense_Mutation_p.T3169N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3211					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.T3211N(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCAGAAAAGACCCTATTTTCA	0.403																																																1	Substitution - Missense(1)	kidney(1)											104	99	101					2																	73746997		1824	4063	5887	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9632C>A	2.37:g.73746997C>A	ENSP00000264448:p.Thr3211Asn		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906531	0.33628	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08458	3.09;3.09	5.62	4.74	0.60224	.	1.045450	0.07536	N	0.913059	T	0.19087	0.0458	L	0.40543	1.245	0.28735	N	0.902295	D;D;D;D	0.55385	0.971;0.971;0.971;0.971	P;P;P;P	0.58454	0.839;0.839;0.839;0.839	T	0.15378	-1.0439	10	0.72032	D	0.01	.	11.1905	0.48681	0.0:0.9141:0.0:0.0859	.	3211;3211;3169;3211	D6W5H5;Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;.;ALMS1_HUMAN	N	3169;3211	ENSP00000386627:T3169N;ENSP00000264448:T3211N	ENSP00000264448:T3211N	T	+	2	0	ALMS1	73600505	0.942000	0.31987	0.007000	0.13788	0.174000	0.22865	2.617000	0.46385	1.496000	0.48567	0.650000	0.86243	ACC		0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		A	73746997	C	A	73746997	3	1	534	1	0	0	0	0	1	0	0	0	535	507	18	4	9674	4	ALMS1	2	73746997	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	1375861	73746997	169452376	16	28564											
MRPL30	51263	broad.mit.edu;hgsc.bcm.edu	37	2	99812127	99812127	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:99812127T>G	ENST00000338148.3	+	6	643	c.445T>G	c.(445-447)Tgg>Ggg	p.W149G	C2orf15_ENST00000512183.2_Missense_Mutation_p.W149G|MRPL30_ENST00000465432.1_3'UTR	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	149						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.W149G(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AGTAGTGCAGTGGCATCTGAA	0.458																																																1	Substitution - Missense(1)	kidney(1)											130	123	126					2																	99812127		2203	4300	6503	SO:0001583	missense	51263			AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"Mitochondrial ribosomal proteins / large subunits"	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.445T>G	2.37:g.99812127T>G	ENSP00000338057:p.Trp149Gly		A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	37	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.097184	0.56075	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000338148;ENST00000409841	T;T;T	0.42131	0.98;0.98;0.98	4.26	4.26	0.50523	.	0.271212	0.37393	N	0.002108	T	0.34745	0.0908	L	0.57536	1.79	0.27580	N	0.949619	B	0.27068	0.167	B	0.19148	0.024	T	0.30149	-0.9988	10	0.48119	T	0.1	-6.8124	7.3077	0.26457	0.1959:0.0:0.0:0.8041	.	149	Q8TCC3	RM30_HUMAN	G	149;162;149;149	ENSP00000420959:W149G;ENSP00000338057:W149G;ENSP00000386752:W149G	ENSP00000312464:W162G	W	+	1	0	C2orf15;MRPL30	99178559	0.950000	0.32346	0.981000	0.43875	0.955000	0.61496	1.701000	0.37825	1.928000	0.55862	0.477000	0.44152	TGG		0.458	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2			G	99812127	T	G	99812127	3	3	534	1	0	0	0	0	1	0	0	0	9796	1696	59	5	463	5	MRPL30	2	99812127	Missense_Mutation	SNP	T	TCGA-CJ-4918-01A-01D-1429-08	26065130	99812127	143387246	17	28565											
AFF3	3899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	100625302	100625302	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:100625302C>G	ENST00000409236.2	-	3	258	c.146G>C	c.(145-147)aGt>aCt	p.S49T	AFF3_ENST00000356421.2_Missense_Mutation_p.S74T|AFF3_ENST00000317233.4_Missense_Mutation_p.S49T|AFF3_ENST00000409579.1_Missense_Mutation_p.S74T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	49					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S74T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GAGAGAGTAACTAGAATTAAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											276	233	248					2																	100625302		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.146G>C	2.37:g.100625302C>G	ENSP00000387207:p.Ser49Thr		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335336	0.60853	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492;ENST00000440445	T;T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.97	5.97	0.96955	.	0.090837	0.48767	D	0.000176	T	0.66944	0.2841	L	0.40543	1.245	0.25729	N	0.985296	P;P;P;P	0.51351	0.944;0.808;0.84;0.808	P;B;B;B	0.50860	0.652;0.26;0.378;0.26	T	0.62996	-0.6735	10	0.66056	D	0.02	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	203;203;49;74	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	T	49;74;74;49;49;203;74;49;49;49;49;49;126	ENSP00000317421:S49T;ENSP00000348793:S74T;ENSP00000386834:S74T;ENSP00000387207:S49T;ENSP00000406484:S49T;ENSP00000396582:S49T;ENSP00000399795:S49T;ENSP00000411383:S49T;ENSP00000395068:S49T;ENSP00000393732:S126T	ENSP00000317421:S49T	S	-	2	0	AFF3	99991734	1.000000	0.71417	0.965000	0.40720	0.954000	0.61252	3.807000	0.55591	2.836000	0.97738	0.655000	0.94253	AGT		0.428	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		G	100625302	C	G	100625302	3	3	534	1	0	0	0	0	1	0	0	0	358	565	20	4	3618	4	AFF3	2	100625302	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	813175	100625302	142574071	18	28566											
SGOL2	151246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201437495	201437495	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:201437495G>T	ENST00000357799.4	+	7	2524	c.2426G>T	c.(2425-2427)aGa>aTa	p.R809I		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	809					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.R809I(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAGAAGCCTAGACTAAATGTA	0.338																																																1	Substitution - Missense(1)	kidney(1)											80	75	76					2																	201437495		1831	4076	5907	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2426G>T	2.37:g.201437495G>T	ENSP00000350447:p.Arg809Ile		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289723	0.23478	.	.	ENSG00000163535	ENST00000357799	T	0.23950	1.88	4.35	1.49	0.22878	.	0.396861	0.21802	N	0.068910	T	0.41119	0.1145	M	0.72894	2.215	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.989;0.996	D;P;D	0.65010	0.931;0.885;0.919	T	0.21895	-1.0232	10	0.87932	D	0	-4.3529	5.8278	0.18564	0.3509:0.0:0.6491:0.0	.	809;809;809	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	I	809	ENSP00000350447:R809I	ENSP00000350447:R809I	R	+	2	0	SGOL2	201145740	0.703000	0.27826	0.977000	0.42913	0.001000	0.01503	1.104000	0.31074	0.333000	0.23563	-0.225000	0.12378	AGA		0.338	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		T	201437495	G	T	201437495	3	4	534	1	0	0	0	0	1	0	0	0	14223	942	33	4	2448	4	SGOL2	2	201437495	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	100812193	201437495	41761878	19	28567											
ECEL1	9427	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	233349705	233349705	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr2:233349705G>C	ENST00000304546.1	-	4	1162	c.952C>G	c.(952-954)Cag>Gag	p.Q318E	ECEL1_ENST00000409941.1_Missense_Mutation_p.Q318E	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	318					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)	p.Q318E(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCCAGCTGCTGCTCCACTTGC	0.617																																																1	Substitution - Missense(1)	kidney(1)											85	76	79					2																	233349705		2203	4300	6503	SO:0001583	missense	9427			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.952C>G	2.37:g.233349705G>C	ENSP00000302051:p.Gln318Glu		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792594	0.31685	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.73363	-0.74;-0.74	5.47	5.47	0.80525	Peptidase M13 (1);	0.117523	0.64402	D	0.000020	T	0.72128	0.3422	L	0.36672	1.1	0.45930	D	0.998768	P;B	0.35226	0.491;0.393	B;B	0.40165	0.125;0.321	T	0.72766	-0.4194	10	0.52906	T	0.07	-2.2529	19.3865	0.94557	0.0:0.0:1.0:0.0	.	318;318	O95672-2;O95672	.;ECEL1_HUMAN	E	318	ENSP00000302051:Q318E;ENSP00000386333:Q318E	ENSP00000302051:Q318E	Q	-	1	0	ECEL1	233057949	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	3.805000	0.55575	2.590000	0.87494	0.456000	0.33151	CAG		0.617	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		C	233349705	G	C	233349705	3	2	534	1	0	0	0	0	1	0	0	0	4893	1328	46	4	1435	4	ECEL1	2	233349705	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	31912210	233349705	9849668	20	28568											
VHL	7428	hgsc.bcm.edu	37	3	10183863	10183863	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr3:10183863G>A	ENST00000256474.2	+	1	1172	c.332G>A	c.(331-333)aGc>aAc	p.S111N	VHL_ENST00000345392.2_Missense_Mutation_p.S111N|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	111	Involved in binding to CCT complex.		S -> C (in VHLD; type II).|S -> N (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S111N(5)|p.S111I(2)|p.S111fs*49(1)|p.?(1)|p.I109_R113del(1)|p.S111fs*22(1)|p.S111fs*45(1)|p.H110_S111del(1)|p.S111_Y112del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCATCCACAGCTACCGAGGT	0.692		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	14	Substitution - Missense(7)|Deletion - In frame(3)|Insertion - Frameshift(2)|Deletion - Frameshift(1)|Unknown(1)	kidney(14)	GRCh37	CM951280|HM971583	VHL	M							10	12	11					3																	10183863		1804	3758	5562	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.332G>A	3.37:g.10183863G>A	ENSP00000256474:p.Ser111Asn		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342270	0.61073	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99760	-6.66;-6.66	5.17	3.37	0.38596	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.096185	0.64402	N	0.000001	D	0.98532	0.9510	L	0.36672	1.1	0.21220	N	0.999751	B;B	0.27229	0.172;0.143	B;B	0.31686	0.134;0.091	D	0.99293	1.0899	10	0.54805	T	0.06	-5.879	4.2645	0.10757	0.0854:0.1565:0.5963:0.1618	.	111;111	P40337-2;P40337	.;VHL_HUMAN	N	111;111;29	ENSP00000256474:S111N;ENSP00000344757:S111N	ENSP00000256474:S111N	S	+	2	0	VHL	10158863	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.866000	0.56040	0.580000	0.29522	0.479000	0.44913	AGC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183863	G	A	10183863	3	1	534	1	0	0	0	0	1	0	0	0	17167	971	34	2	334	2	VHL	3	10183863	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08		10183863	187838567	21	28569											
KALRN	8997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	124215189	124215189	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr3:124215189G>A	ENST00000240874.3	+	33	5015	c.4858G>A	c.(4858-4860)Gat>Aat	p.D1620N	KALRN_ENST00000460856.1_Missense_Mutation_p.D1611N|KALRN_ENST00000360013.3_Missense_Mutation_p.D1620N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1620					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1620N(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGCCAGGGGGATGGGAGCAG	0.542																																																2	Substitution - Missense(2)	kidney(2)											133	127	129					3																	124215189		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4858G>A	3.37:g.124215189G>A	ENSP00000240874:p.Asp1620Asn		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218576	0.95104	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.21734	1.99;1.99;1.99	5.25	5.25	0.73442	.	0.117169	0.56097	D	0.000033	T	0.33265	0.0857	L	0.43152	1.355	0.80722	D	1	P;P;P	0.46784	0.774;0.884;0.855	P;P;P	0.54706	0.579;0.516;0.759	T	0.00411	-1.1756	10	0.21014	T	0.42	.	19.3982	0.94617	0.0:0.0:1.0:0.0	.	1611;1620;1620	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	N	1611;1620;1620	ENSP00000418611:D1611N;ENSP00000240874:D1620N;ENSP00000353109:D1620N	ENSP00000240874:D1620N	D	+	1	0	KALRN	125697879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.894000	0.99253	0.655000	0.94253	GAT		0.542	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		A	124215189	G	A	124215189	3	1	534	1	0	0	0	0	1	0	0	0	7977	1174	41	2	4988	2	KALRN	3	124215189	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	114031326	124215189	73807241	22	28570											
WDR1	9948	broad.mit.edu;ucsc.edu	37	4	10089380	10089380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:10089380delA	ENST00000499869.2	-	8	1095	c.902delT	c.(901-903)atcfs	p.I301fs	WDR1_ENST00000382451.2_Frame_Shift_Del_p.I161fs|WDR1_ENST00000382452.2_Frame_Shift_Del_p.I301fs|WDR1_ENST00000502702.1_Frame_Shift_Del_p.I161fs|WDR1_ENST00000515743.1_5'UTR			O75083	WDR1_HUMAN	WD repeat domain 1	301					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CAGATAGTTGATGTACCCGGA	0.602																																																0													54	63	60					4																	10089380		2047	4196	6243	SO:0001589	frameshift_variant	9948			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.902delT	4.37:g.10089380delA	ENSP00000427687:p.Ile301fs		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Frame_Shift_Del	DEL	ENST00000499869.2	37	CCDS54740.1																																																																																				0.602	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			-	10089380	A	-	10089380	7	5	534	1	0	1	0	1	0	0	0	0	17277	333	12	0	950	0	WDR1	4	10089380	Frame_Shift_Del	DEL	A	TCGA-CJ-4918-01A-01D-1429-08		10089380	181064896	23	28571											
SLC30A9	10463	broad.mit.edu;hgsc.bcm.edu	37	4	42072678	42072678	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:42072678C>G	ENST00000264451.7	+	15	1568	c.1388C>G	c.(1387-1389)aCt>aGt	p.T463S		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	463					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T463S(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAACGGCTCACTGAACTCCTG	0.448																																																1	Substitution - Missense(1)	kidney(1)											138	115	122					4																	42072678		2203	4300	6503	SO:0001583	missense	10463			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1388C>G	4.37:g.42072678C>G	ENSP00000264451:p.Thr463Ser		Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766764	0.69878	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.62364	0.03	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	N	0.17631	0.505	0.80722	D	1	B	0.29766	0.256	B	0.33960	0.173	T	0.43572	-0.9383	10	0.13470	T	0.59	-13.3357	19.2006	0.93711	0.0:1.0:0.0:0.0	.	463	Q6PML9	ZNT9_HUMAN	S	463;291	ENSP00000264451:T463S	ENSP00000264451:T463S	T	+	2	0	SLC30A9	41767435	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.731000	0.84895	2.597000	0.87782	0.655000	0.94253	ACT		0.448	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			G	42072678	C	G	42072678	3	3	534	1	0	0	0	0	1	0	0	0	14568	565	20	4	1446	4	SLC30A9	4	42072678	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	31983298	42072678	149081598	24	28572											
ANXA3	306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	79518556	79518556	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:79518556C>A	ENST00000264908.6	+	10	1097	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	ANXA3_ENST00000512884.1_Missense_Mutation_p.L201M|ANXA3_ENST00000503570.2_Missense_Mutation_p.L201M	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	240					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)	p.L240M(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGAAGACTTACTGTTGGCCAT	0.418																																					GBM(2;126 157 27790 28920 42492)											1	Substitution - Missense(1)	kidney(1)											126	117	120					4																	79518556		2203	4300	6503	SO:0001583	missense	306			M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.718C>A	4.37:g.79518556C>A	ENSP00000264908:p.Leu240Met		B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740100	0.30865	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570	T;T;T	0.27720	1.65;1.65;1.65	5.08	3.35	0.38373	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.72353	2.195	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.43750	-0.9372	10	0.16420	T	0.52	.	10.5483	0.45072	0.0:0.8402:0.0:0.1598	.	240	P12429	ANXA3_HUMAN	M	240;201;201	ENSP00000264908:L240M;ENSP00000423068:L201M;ENSP00000421015:L201M	ENSP00000264908:L240M	L	+	1	2	ANXA3	79737580	0.984000	0.35163	0.993000	0.49108	0.755000	0.42902	1.582000	0.36568	0.845000	0.35118	0.460000	0.39030	CTG		0.418	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		A	79518556	C	A	79518556	3	1	534	1	0	0	0	0	1	0	0	0	719	564	20	4	752	4	ANXA3	4	79518556	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	37445878	79518556	111635720	25	28573											
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85654653	85654653	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:85654653T>A	ENST00000295888.4	-	44	7510	c.7103A>T	c.(7102-7104)aAg>aTg	p.K2368M	WDFY3_ENST00000322366.6_Missense_Mutation_p.K2368M	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2368	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.K2368M(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGCATCCACTTGTCGAGGTG	0.537																																																1	Substitution - Missense(1)	kidney(1)											106	117	113					4																	85654653		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7103A>T	4.37:g.85654653T>A	ENSP00000295888:p.Lys2368Met		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427358	0.62733	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	D;D	0.90844	-2.74;-2.74	5.66	4.47	0.54385	Cyclin-like (1);	0.000000	0.85682	D	0.000000	D	0.94801	0.8321	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94607	0.7801	10	0.87932	D	0	.	11.6611	0.51347	0.0:0.0695:0.0:0.9305	.	2368	Q8IZQ1	WDFY3_HUMAN	M	2368	ENSP00000318466:K2368M;ENSP00000295888:K2368M	ENSP00000295888:K2368M	K	-	2	0	WDFY3	85873677	1.000000	0.71417	0.944000	0.38274	0.323000	0.28346	8.040000	0.89188	0.955000	0.37878	-0.297000	0.09499	AAG		0.537	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		A	85654653	T	A	85654653	3	1	534	1	0	0	0	0	1	0	0	0	17275	1609	56	5	3577	5	WDFY3	4	85654653	Missense_Mutation	SNP	T	TCGA-CJ-4918-01A-01D-1429-08	6136097	85654653	105499623	26	28574											
MTTP	4547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	100521758	100521758	+	Silent	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:100521758C>T	ENST00000265517.5	+	9	1307	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	MTTP_ENST00000457717.1_Silent_p.T368T|MTTP_ENST00000511045.1_Silent_p.T395T|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	368	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.T368T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CTGCTCAGACCTCAGACTCAT	0.413																																																1	Substitution - coding silent(1)	kidney(1)											143	141	142					4																	100521758		2203	4300	6503	SO:0001819	synonymous_variant	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1104C>T	4.37:g.100521758C>T			A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	CCDS3651.1																																																																																				0.413	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			T	100521758	C	T	100521758	2	4	534	1	0	0	0	0	0	0	0	1	9966	668	24	2		2	MTTP	4	100521758	Silent	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	14867105	100521758	90632518	27	28575											
RAPGEF2	9693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	160273880	160273880	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr4:160273880T>A	ENST00000264431.4	+	21	3845	c.3426T>A	c.(3424-3426)gaT>gaA	p.D1142E		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1142	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.D1130E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATTTTTCAGATTCTGGTCACA	0.423																																																1	Substitution - Missense(1)	kidney(1)											112	105	107					4																	160273880		1891	4109	6000	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3426T>A	4.37:g.160273880T>A	ENSP00000264431:p.Asp1142Glu		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	22.9|22.9|22.9	4.350327|4.350327|4.350327	0.82132|0.82132|0.82132	.|.|.	.|.|.	ENSG00000109756|ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000505026|ENST00000510253	T|.|.	0.51071|.|.	0.72|.|.	6.07|6.07|6.07	0.903|0.903|0.903	0.19296|0.19296|0.19296	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.61924|0.61924|0.61924	0.2386|0.2386|0.2386	M|M|M	0.64404|0.64404|0.64404	1.975|1.975|1.975	0.45502|0.45502|0.45502	D|D|D	0.998462|0.998462|0.998462	D|.|.	0.89917|.|.	1.0|.|.	D|.|.	0.85130|.|.	0.997|.|.	T|T|T	0.57039|0.57039|0.57039	-0.7879|-0.7879|-0.7879	10|5|5	0.33940|.|.	T|.|.	0.23|.|.	.|.|.	11.1831|11.1831|11.1831	0.48640|0.48640|0.48640	0.0:0.3767:0.0:0.6233|0.0:0.3767:0.0:0.6233|0.0:0.3767:0.0:0.6233	.|.|.	1142|.|.	Q9Y4G8|.|.	RPGF2_HUMAN|.|.	E|I|N	1142|77|199	ENSP00000264431:D1142E|.|.	ENSP00000264431:D1142E|.|.	D|F|I	+|+|+	3|1|2	2|0|0	RAPGEF2|RAPGEF2|RAPGEF2	160493330|160493330|160493330	0.995000|0.995000|0.995000	0.38212|0.38212|0.38212	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	0.309000|0.309000|0.309000	0.19332|0.19332|0.19332	-0.044000|-0.044000|-0.044000	0.13491|0.13491|0.13491	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|TTC|ATT		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		A	160273880	T	A	160273880	3	1	534	1	0	0	0	0	1	0	0	0	13050	1490	52	5	3508	5	RAPGEF2	4	160273880	Missense_Mutation	SNP	T	TCGA-CJ-4918-01A-01D-1429-08	59752122	160273880	30880396	28	28576											
RNASEN	29102	broad.mit.edu	37	5	31423045	31423045	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr5:31423045C>A	ENST00000511367.2	-	28	3512	c.3268G>T	c.(3268-3270)Gag>Tag	p.E1090*	DROSHA_ENST00000442743.1_Nonsense_Mutation_p.E1053*|DROSHA_ENST00000513349.1_Nonsense_Mutation_p.E1053*|DROSHA_ENST00000344624.3_Nonsense_Mutation_p.E1090*	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1090	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.E1090*(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTATTTGGCTCTTGTAGCTAC	0.308																																																1	Substitution - Nonsense(1)	kidney(1)											57	55	56					5																	31423045		1815	4064	5879	SO:0001587	stop_gained	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3268G>T	5.37:g.31423045C>A	ENSP00000425979:p.Glu1090*		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Nonsense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	43	9.857190	0.99281	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.751	20.3248	0.98698	0.0:1.0:0.0:0.0	.	.	.	.	X	1090;1090;1053;1053;1015;1046	.	ENSP00000265075:E1015X	E	-	1	0	DROSHA	31458802	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.271000	0.78506	2.818000	0.97014	0.655000	0.94253	GAG		0.308	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		A	31423045	C	A	31423045	4	1	534	1	0	0	0	0	0	1	0	0	13423	922	32	4	888	4	RNASEN	5	31423045	Nonsense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08		31423045	149492215	29	28577											
KCNN2	3781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	113698884	113698884	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr5:113698884G>T	ENST00000512097.3	+	2	1430	c.412G>T	c.(412-414)Gcg>Tcg	p.A138S	KCNN2_ENST00000264773.3_Missense_Mutation_p.A138S|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	138					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.A138S(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CAGCGACTACGCGCTCATCTT	0.602																																																2	Substitution - Missense(2)	kidney(2)											36	37	37					5																	113698884		2202	4300	6502	SO:0001583	missense	3781			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.412G>T	5.37:g.113698884G>T	ENSP00000427120:p.Ala138Ser		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088250	0.76756	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98862	-5.19;-5.19	5.44	5.44	0.79542	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98376	1.0556	10	0.40728	T	0.16	.	13.5568	0.61763	0.0767:0.0:0.9233:0.0	.	138	Q9H2S1	KCNN2_HUMAN	S	138	ENSP00000427120:A138S;ENSP00000264773:A138S	ENSP00000264773:A138S	A	+	1	0	KCNN2	113726783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.696000	0.84270	2.536000	0.85505	0.655000	0.94253	GCG		0.602	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		T	113698884	G	T	113698884	3	4	534	1	0	0	0	0	1	0	0	0	8081	1087	38	4	414	4	KCNN2	5	113698884	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	82275839	113698884	67216376	30	28578											
SLC12A2	6558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127497486	127497486	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr5:127497486G>C	ENST00000262461.2	+	17	2799	c.2610G>C	c.(2608-2610)ttG>ttC	p.L870F	SLC12A2_ENST00000343225.4_Missense_Mutation_p.L870F	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	870					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.L870F(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CACAGTATTTGATGCAGGTAA	0.318																																																1	Substitution - Missense(1)	kidney(1)											79	75	76					5																	127497486		2203	4299	6502	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2610G>C	5.37:g.127497486G>C	ENSP00000262461:p.Leu870Phe		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224056	0.58668	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.96522	-4.04;-4.04	5.44	1.64	0.23874	.	0.073913	0.56097	D	0.000035	D	0.97826	0.9286	M	0.93808	3.46	0.58432	D	0.999999	D;D;D	0.76494	0.992;0.999;0.986	P;D;P	0.70935	0.897;0.971;0.793	D	0.95916	0.8927	10	0.87932	D	0	.	4.3761	0.11270	0.4329:0.0:0.4149:0.1523	.	870;84;870	P55011-3;Q59GB7;P55011	.;.;S12A2_HUMAN	F	870	ENSP00000262461:L870F;ENSP00000340878:L870F	ENSP00000262461:L870F	L	+	3	2	SLC12A2	127525385	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	0.339000	0.19875	0.428000	0.26173	0.650000	0.86243	TTG		0.318	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		C	127497486	G	C	127497486	3	2	534	1	0	0	0	0	1	0	0	0	14389	1281	45	4	2676	4	SLC12A2	5	127497486	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	13798602	127497486	53417774	31	28579											
GRIA1	2890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	152873521	152873521	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr5:152873521A>G	ENST00000285900.5	+	2	459	c.116A>G	c.(115-117)cAt>cGt	p.H39R	GRIA1_ENST00000518142.1_Missense_Mutation_p.H39R|GRIA1_ENST00000518783.1_Missense_Mutation_p.H49R|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000448073.4_Missense_Mutation_p.H49R|GRIA1_ENST00000340592.5_Missense_Mutation_p.H39R	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	39					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.H39R(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCACAGGAACATGCTGCTTTT	0.453																																																2	Substitution - Missense(2)	kidney(2)											123	119	120					5																	152873521		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.116A>G	5.37:g.152873521A>G	ENSP00000285900:p.His39Arg		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867810	0.51588	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000518783;ENST00000448073	D;T;D;D;D	0.82167	-1.58;2.57;-1.58;-1.58;-1.58	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.056524	0.64402	D	0.000001	T	0.81564	0.4849	N	0.14661	0.345	0.80722	D	1	D;D;P;D;D;P	0.56968	0.978;0.978;0.932;0.978;0.973;0.9	P;P;P;P;P;P	0.58520	0.663;0.663;0.84;0.663;0.533;0.521	D	0.84711	0.0734	10	0.62326	D	0.03	.	14.7347	0.69406	1.0:0.0:0.0:0.0	.	49;49;39;49;39;39	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	R	39;39;39;39;49;49	ENSP00000285900:H39R;ENSP00000427920:H39R;ENSP00000339343:H39R;ENSP00000428994:H49R;ENSP00000415569:H49R	ENSP00000285900:H39R	H	+	2	0	GRIA1	152853714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.201000	0.77847	2.060000	0.61445	0.533000	0.62120	CAT		0.453	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			G	152873521	A	G	152873521	3	3	534	1	0	0	0	0	1	0	0	0	6769	217	8	3	122	3	GRIA1	5	152873521	Missense_Mutation	SNP	A	TCGA-CJ-4918-01A-01D-1429-08	25376035	152873521	28041739	32	28580											
C6orf145	221749	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	3723939	3723939	+	Silent	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:3723939G>A	ENST00000380283.4	-	5	1104	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	204							phosphatidylinositol binding (GO:0035091)	p.L204L(1)									CCGTCCTCCAGCTCTGAGGGA	0.537																																																1	Substitution - coding silent(1)	kidney(1)											128	114	119					6																	3723939		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 145"	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.610C>T	6.37:g.3723939G>A			A8K0N3|Q6PGP0|Q86XB7	Silent	SNP	ENST00000380283.4	37	CCDS4486.1																																																																																				0.537	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373		A	3723939	G	A	3723939	2	1	534	1	0	0	0	0	0	0	0	1	2336	962	34	2		2	C6orf145	6	3723939	Silent	SNP	G	TCGA-CJ-4918-01A-01D-1429-08		3723939	167391128	33	28581											
SLC17A4	10050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	25779371	25779371	+	Silent	SNP	A	A	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:25779371A>T	ENST00000377905.4	+	12	1568	c.1449A>T	c.(1447-1449)gcA>gcT	p.A483A	SLC17A4_ENST00000397076.2_3'UTR|SLC17A4_ENST00000439485.2_Silent_p.A253A	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	483					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.A483A(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGGCCGAGCAGATGTGCAGG	0.483																																																1	Substitution - coding silent(1)	kidney(1)											203	190	194					6																	25779371		2203	4300	6503	SO:0001819	synonymous_variant	10050			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1449A>T	6.37:g.25779371A>T			B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	37	CCDS4564.1																																																																																				0.483	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			T	25779371	A	T	25779371	2	4	534	1	0	0	0	0	0	0	0	1	14425	175	7	5		5	SLC17A4	6	25779371	Silent	SNP	A	TCGA-CJ-4918-01A-01D-1429-08	22055432	25779371	145335696	34	28582											
CCHCR1	54535	hgsc.bcm.edu	37	6	31113524	31113525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:31113524_31113525insG	ENST00000376266.5	-	11	1496_1497	c.1374_1375insC	c.(1372-1377)cccagcfs	p.S459fs	CCHCR1_ENST00000451521.2_Frame_Shift_Ins_p.S512fs|CCHCR1_ENST00000396268.3_Frame_Shift_Ins_p.S548fs|CCHCR1_ENST00000396263.2_Intron	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	459					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TTGTTGAGGCTGGGAAGCTGGG	0.629																																																0																																										SO:0001589	frameshift_variant	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1375dupC	6.37:g.31113527_31113527dupG	ENSP00000365442:p.Ser459fs		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Frame_Shift_Ins	INS	ENST00000376266.5	37	CCDS4695.1																																																																																				0.629	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		G	31113525	-	G	31113524	7	5	534	1	0	1	1	0	0	0	0	0	2879	1580	55	0	1005	0	CCHCR1	6	31113524	Frame_Shift_Ins	INS	-	TCGA-CJ-4918-01A-01D-1429-08	5334153	31113524	140001543	35	28583											
BAT3	7917	broad.mit.edu	37	6	31611899	31611899	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:31611899C>A	ENST00000375964.6	-	12	1851	c.1538G>T	c.(1537-1539)cGg>cTg	p.R513L	BAG6_ENST00000362049.6_Missense_Mutation_p.R507L|BAG6_ENST00000404765.2_Missense_Mutation_p.R543L|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000211379.5_Missense_Mutation_p.R507L|BAG6_ENST00000375976.4_Missense_Mutation_p.R507L|BAG6_ENST00000439687.2_Missense_Mutation_p.R507L	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	513	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.R507L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						ATGGGAAGGCCGAGCCTGTGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											43	49	47					6																	31611899		2203	4300	6503	SO:0001583	missense	0			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1538G>T	6.37:g.31611899C>A	ENSP00000365131:p.Arg513Leu		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.022013	0.75275	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000438149;ENST00000436214	T;T;T;T;T;T;T;T	0.49720	1.4;1.48;1.4;1.39;0.88;1.41;0.77;0.85	4.99	4.99	0.66335	.	0.225189	0.36555	N	0.002540	T	0.34337	0.0894	N	0.19112	0.55	0.35957	D	0.834344	B;B;P;P	0.48911	0.026;0.044;0.866;0.917	B;B;P;P	0.56343	0.004;0.016;0.719;0.796	T	0.12451	-1.0547	10	0.21540	T	0.41	.	15.2664	0.73666	0.0:1.0:0.0:0.0	.	507;507;513;507	E7EMZ4;F8VXY4;P46379;P46379-2	.;.;BAG6_HUMAN;.	L	507;513;507;543;507;507;543;101;121	ENSP00000365143:R507L;ENSP00000365131:R513L;ENSP00000211379:R507L;ENSP00000384494:R543L;ENSP00000402856:R507L;ENSP00000354875:R507L;ENSP00000397978:R543L;ENSP00000410280:R101L	ENSP00000211379:R507L	R	-	2	0	BAG6	31719878	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.626000	0.46460	2.317000	0.78254	0.550000	0.68814	CGG		0.627	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		A	31611899	C	A	31611899	3	1	534	1	0	0	0	0	1	0	0	0	1322	652	23	4	1916	4	BAT3	6	31611899	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	498375	31611899	139503168	36	28584											
UHRF1BP1	54887	hgsc.bcm.edu;ucsc.edu	37	6	34825920	34825921	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:34825920_34825921delAG	ENST00000192788.5	+	14	1958_1959	c.1787_1788delAG	c.(1786-1788)aagfs	p.K596fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.K596fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	596							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCACTGGAAAAGAGAGAGCGGG	0.455																																																0																																										SO:0001589	frameshift_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1787_1788delAG	6.37:g.34825926_34825927delAG	ENSP00000192788:p.Lys596fs		Q9NXE0	Frame_Shift_Del	DEL	ENST00000192788.5	37	CCDS43455.1																																																																																				0.455	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		-	34825921	AG	-	34825920	7	5	534	1	0	1	0	1	0	0	0	0	16973	72	3	0	1841	0	UHRF1BP1	6	34825920	Frame_Shift_Del	DEL	AG	TCGA-CJ-4918-01A-01D-1429-08	3214021	34825920	136289147	37	28585											
DNAH8	1769	broad.mit.edu	37	6	38889260	38889260	+	Missense_Mutation	SNP	A	A	T	rs147713611		TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr6:38889260A>T	ENST00000359357.3	+	69	10243	c.9989A>T	c.(9988-9990)gAt>gTt	p.D3330V	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3294V|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3547V|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3330	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D3330V(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAAAATTTGATGCAGCAATG	0.423																																																2	Substitution - Missense(2)	kidney(2)											69	65	67					6																	38889260		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9989A>T	6.37:g.38889260A>T	ENSP00000352312:p.Asp3330Val		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	24.2	4.510050	0.85282	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.74947	-0.89;-0.89;-0.89	5.47	5.47	0.80525	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.86560	0.5962	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.89136	0.3513	10	0.62326	D	0.03	.	15.831	0.78752	1.0:0.0:0.0:0.0	.	3330	Q96JB1	DYH8_HUMAN	V	3535;3535;3330;3294	ENSP00000333363:D3535V;ENSP00000352312:D3330V;ENSP00000402294:D3294V	ENSP00000333363:D3535V	D	+	2	0	DNAH8	38997238	1.000000	0.71417	0.667000	0.29798	0.929000	0.56500	7.451000	0.80668	2.203000	0.70933	0.482000	0.46254	GAT		0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		T	38889260	A	T	38889260	3	4	534	1	0	0	0	0	1	0	0	0	4609	333	12	5	10255	5	DNAH8	6	38889260	Missense_Mutation	SNP	A	TCGA-CJ-4918-01A-01D-1429-08	4063340	38889260	132225807	38	28586											
STK31	56164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23775341	23775341	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr7:23775341A>T	ENST00000355870.3	+	7	787	c.668A>T	c.(667-669)gAa>gTa	p.E223V	STK31_ENST00000428484.1_Missense_Mutation_p.E200V|STK31_ENST00000354639.3_Missense_Mutation_p.E200V|STK31_ENST00000433467.2_Missense_Mutation_p.E223V|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	223						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.E223V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCTGTGAGGAAAAAAAATTG	0.473																																																1	Substitution - Missense(1)	kidney(1)											102	100	101					7																	23775341		2203	4300	6503	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.668A>T	7.37:g.23775341A>T	ENSP00000348132:p.Glu223Val		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	a	12.31	1.899406	0.33535	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.16	2.73	0.32206	.	0.303685	0.31648	N	0.007298	T	0.11495	0.0280	N	0.24115	0.695	0.23845	N	0.996684	P;P	0.39282	0.666;0.666	B;B	0.33339	0.162;0.115	T	0.14448	-1.0472	10	0.72032	D	0.01	-4.2431	7.1773	0.25753	0.7673:0.1528:0.0799:0.0	.	223;223	B4DZ06;Q9BXU1	.;STK31_HUMAN	V	223;223;200;200	ENSP00000348132:E223V;ENSP00000411852:E223V;ENSP00000346660:E200V;ENSP00000406146:E200V	ENSP00000346660:E200V	E	+	2	0	STK31	23741866	1.000000	0.71417	0.989000	0.46669	0.422000	0.31414	3.093000	0.50217	0.361000	0.24292	-0.456000	0.05471	GAA		0.473	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		T	23775341	A	T	23775341	3	4	534	1	0	0	0	0	1	0	0	0	15301	246	9	5	694	5	STK31	7	23775341	Missense_Mutation	SNP	A	TCGA-CJ-4918-01A-01D-1429-08		23775341	135363322	39	28587											
OGDH	4967	broad.mit.edu;ucsc.edu	37	7	44733560	44733560	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr7:44733560C>A	ENST00000222673.5	+	11	1514	c.1472C>A	c.(1471-1473)gCc>gAc	p.A491D	OGDH_ENST00000444676.1_Missense_Mutation_p.A506D|OGDH_ENST00000449767.1_Missense_Mutation_p.A487D|OGDH_ENST00000439616.2_Missense_Mutation_p.A341D|OGDH_ENST00000543843.1_Missense_Mutation_p.A442D|OGDH_ENST00000447398.1_Missense_Mutation_p.A502D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	491					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.A491D(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AAAGTGGCGGCCGAGTGGAGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											118	88	98					7																	44733560		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1472C>A	7.37:g.44733560C>A	ENSP00000222673:p.Ala491Asp		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265281	0.95399	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.69	5.69	0.88448	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D;D	0.63880	0.98;0.993;0.976;0.976;0.958;0.976	D;P;D;D;D;D	0.69654	0.948;0.906;0.965;0.965;0.93;0.965	D	0.98988	1.0807	10	0.87932	D	0	-31.9911	19.4294	0.94758	0.0:1.0:0.0:0.0	.	286;341;487;502;393;491	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	D	341;487;502;506;491;442	ENSP00000398576:A341D;ENSP00000392878:A487D;ENSP00000388183:A502D;ENSP00000414662:A506D;ENSP00000222673:A491D;ENSP00000443821:A442D	ENSP00000222673:A491D	A	+	2	0	OGDH	44700085	1.000000	0.71417	0.593000	0.28771	0.973000	0.67179	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	GCC		0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			A	44733560	C	A	44733560	3	1	534	1	0	0	0	0	1	0	0	0	10841	739	26	4	1683	4	OGDH	7	44733560	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	20958219	44733560	114405103	40	28588											
HUS1	3364	hgsc.bcm.edu;ucsc.edu	37	7	48008881	48008881	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr7:48008881delA	ENST00000258774.5	-	6	598	c.575delT	c.(574-576)ttgfs	p.L192fs	HUS1_ENST00000432325.1_Frame_Shift_Del_p.L171fs	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	192					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TTCTATTTTCAAATTCAATTC	0.318								Direct reversal of damage;Other conserved DNA damage response genes			OREG0018063	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(103;466 1517 21788 34610 43890)											0													91	95	93					7																	48008881		2198	4300	6498	SO:0001589	frameshift_variant	3364			Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"hus1+-like protein"	603760	"HUS1 (S. pombe) checkpoint homolog"			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.575delT	7.37:g.48008881delA	ENSP00000258774:p.Leu192fs	951	B4DFI9	Frame_Shift_Del	DEL	ENST00000258774.5	37	CCDS34635.1																																																																																				0.318	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		-	48008881	A	-	48008881	7	5	534	1	0	1	0	1	0	0	0	0	7461	131	5	0	279	0	HUS1	7	48008881	Frame_Shift_Del	DEL	A	TCGA-CJ-4918-01A-01D-1429-08	3275321	48008881	111129782	41	28589											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu	37	7	82474757	82474757	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr7:82474757C>T	ENST00000333891.9	-	13	14213	c.13876G>A	c.(13876-13878)Gca>Aca	p.A4626T	PCLO_ENST00000423517.2_Missense_Mutation_p.A4626T|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A4626T(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGAGTTCTGCTGCCAACTGC	0.433																																																2	Substitution - Missense(2)	kidney(2)											82	79	80					7																	82474757		1929	4145	6074	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13876G>A	7.37:g.82474757C>T	ENSP00000334319:p.Ala4626Thr			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833954	0.71373	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.17854	2.26;2.25	5.64	5.64	0.86602	.	.	.	.	.	T	0.42177	0.1191	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.997	D;D;D;D	0.87578	0.998;0.998;0.995;0.989	T	0.11792	-1.0573	9	0.87932	D	0	.	20.0625	0.97681	0.0:1.0:0.0:0.0	.	4626;4626;56;123	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	T	4626;4626;122	ENSP00000334319:A4626T;ENSP00000388393:A4626T	ENSP00000334319:A4626T	A	-	1	0	PCLO	82312693	1.000000	0.71417	0.816000	0.32577	0.995000	0.86356	7.212000	0.77941	2.816000	0.96949	0.561000	0.74099	GCA		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82474757	C	T	82474757	3	4	534	1	0	0	0	0	1	0	0	0	11585	797	28	2	1621	2	PCLO	7	82474757	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	34465876	82474757	76663906	42	28590											
EPHB4	2050	broad.mit.edu;hgsc.bcm.edu	37	7	100417900	100417900	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr7:100417900A>C	ENST00000358173.3	-	5	1295	c.827T>G	c.(826-828)tTc>tGc	p.F276C	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.F276C|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	276	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F276C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGGGGCTTGAAGGTGCCCTG	0.572																																					GBM(200;2113 3072 25865 52728)											1	Substitution - Missense(1)	kidney(1)											106	120	115					7																	100417900		2203	4300	6503	SO:0001583	missense	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.827T>G	7.37:g.100417900A>C	ENSP00000350896:p.Phe276Cys		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.208075	0.58343	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.25085	1.82;1.82	5.35	5.35	0.76521	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.000000	0.53938	D	0.000047	T	0.54615	0.1869	M	0.89785	3.06	0.42298	D	0.992164	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.989;0.989;0.961;0.986	T	0.62996	-0.6735	10	0.72032	D	0.01	.	8.7039	0.34343	0.8303:0.0:0.0:0.1696	.	276;276;276;276	B5A972;B5A970;Q96L35;P54760	.;.;.;EPHB4_HUMAN	C	276	ENSP00000353833:F276C;ENSP00000350896:F276C	ENSP00000350896:F276C	F	-	2	0	EPHB4	100255836	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.093000	0.89531	2.014000	0.59158	0.533000	0.62120	TTC		0.572	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		C	100417900	A	C	100417900	3	2	534	1	0	0	0	0	1	0	0	0	5179	246	9	5	2188	5	EPHB4	7	100417900	Missense_Mutation	SNP	A	TCGA-CJ-4918-01A-01D-1429-08	17943143	100417900	58720763	43	28591											
PLEC	5339	broad.mit.edu;hgsc.bcm.edu	37	8	144996079	144996079	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr8:144996079G>C	ENST00000322810.4	-	32	8490	c.8321C>G	c.(8320-8322)gCg>gGg	p.A2774G	PLEC_ENST00000354589.3_Missense_Mutation_p.A2637G|PLEC_ENST00000356346.3_Missense_Mutation_p.A2623G|PLEC_ENST00000357649.2_Missense_Mutation_p.A2641G|PLEC_ENST00000354958.2_Missense_Mutation_p.A2615G|PLEC_ENST00000436759.2_Missense_Mutation_p.A2664G|PLEC_ENST00000345136.3_Missense_Mutation_p.A2637G|PLEC_ENST00000527096.1_Missense_Mutation_p.A2660G|PLEC_ENST00000398774.2_Missense_Mutation_p.A2605G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2774	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.A2637G(1)|p.A2664G(1)|p.A2774G(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCCTCTGCCGCGGGGCCATC	0.687																																																3	Substitution - Missense(3)	kidney(3)											13	16	15					8																	144996079		2061	4153	6214	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8321C>G	8.37:g.144996079G>C	ENSP00000323856:p.Ala2774Gly		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	0.719	-0.784179	0.02907	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76448	-0.99;-0.99;-1.02;-1.02;-1.0;-0.99;-0.99;-0.99;-0.99	3.95	2.07	0.26955	.	0.431154	0.20447	U	0.092166	T	0.64080	0.2566	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.002;0.001;0.001;0.001	T	0.48927	-0.8991	10	0.26408	T	0.33	.	8.0236	0.30423	0.087:0.0:0.7547:0.1583	.	2664;2623;2615;2774;2605;2637;2641;2637	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	G	2637;2641;2637;2605;2774;2615;2623;2664;2660	ENSP00000344848:A2637G;ENSP00000350277:A2641G;ENSP00000346602:A2637G;ENSP00000381756:A2605G;ENSP00000323856:A2774G;ENSP00000347044:A2615G;ENSP00000348702:A2623G;ENSP00000388180:A2664G;ENSP00000434583:A2660G	ENSP00000323856:A2774G	A	-	2	0	PLEC	145068067	0.052000	0.20516	0.000000	0.03702	0.002000	0.02628	2.443000	0.44881	0.411000	0.25702	0.448000	0.29417	GCG		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		C	144996079	G	C	144996079	3	2	534	1	0	0	0	0	1	0	0	0	12054	1087	38	4	5737	4	PLEC	8	144996079	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08		144996079	1367943	44	28592											
JAK2	3717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	5022145	5022145	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:5022145A>C	ENST00000381652.3	+	3	652	c.158A>C	c.(157-159)gAt>gCt	p.D53A	JAK2_ENST00000539801.1_Missense_Mutation_p.D53A	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	53	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.D53A(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCTGAGGCAGATTATCTGACC	0.368		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	1	Substitution - Missense(1)	kidney(1)											143	140	141					9																	5022145		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.158A>C	9.37:g.5022145A>C	ENSP00000371067:p.Asp53Ala		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.650118	0.29336	.	.	ENSG00000096968	ENST00000539801;ENST00000381652	T;T	0.62639	0.01;0.01	5.57	5.57	0.84162	Band 4.1 domain (1);FERM domain (1);	0.289778	0.38217	N	0.001767	T	0.49287	0.1548	N	0.25647	0.755	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41822	-0.9487	9	.	.	.	-13.6717	15.7191	0.77694	1.0:0.0:0.0:0.0	.	53	O60674	JAK2_HUMAN	A	53	ENSP00000440387:D53A;ENSP00000371067:D53A	.	D	+	2	0	JAK2	5012145	1.000000	0.71417	0.995000	0.50966	0.328000	0.28507	7.037000	0.76531	2.118000	0.64928	0.377000	0.23210	GAT		0.368	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			C	5022145	A	C	5022145	3	2	534	1	0	0	0	0	1	0	0	0	7940	333	12	5	160	5	JAK2	9	5022145	Missense_Mutation	SNP	A	TCGA-CJ-4918-01A-01D-1429-08		5022145	136191286	45	28593											
SLC24A2	25769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	19550217	19550217	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:19550217T>A	ENST00000341998.2	-	7	1458	c.1397A>T	c.(1396-1398)gAa>gTa	p.E466V	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E449V	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	466					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.E466V(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTTGCGGGTTTCAGAAGGCCA	0.423																																																1	Substitution - Missense(1)	kidney(1)											124	125	125					9																	19550217		2203	4300	6503	SO:0001583	missense	25769			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1397A>T	9.37:g.19550217T>A	ENSP00000344801:p.Glu466Val		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424723	0.25639	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.75367	-0.93;-0.93	5.12	2.66	0.31614	.	0.771206	0.12557	N	0.458543	T	0.52693	0.1750	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.18871	0.023;0.007	T	0.31138	-0.9954	9	.	.	.	.	5.8332	0.18593	0.0:0.0957:0.3578:0.5464	.	449;466	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	V	466;449	ENSP00000344801:E466V;ENSP00000286344:E449V	.	E	-	2	0	SLC24A2	19540217	0.091000	0.21658	0.002000	0.10522	0.380000	0.30137	1.224000	0.32539	2.050000	0.60909	0.533000	0.62120	GAA		0.423	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		A	19550217	T	A	19550217	3	1	534	1	0	0	0	0	1	0	0	0	14472	1783	62	5	604	5	SLC24A2	9	19550217	Missense_Mutation	SNP	T	TCGA-CJ-4918-01A-01D-1429-08	14528072	19550217	121663214	46	28594											
C9orf3	84909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	97823038	97823038	+	Silent	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:97823038C>T	ENST00000375315.2	+	13	2178	c.2178C>T	c.(2176-2178)ccC>ccT	p.P726P	C9orf3_ENST00000433691.2_Silent_p.P67P|C9orf3_ENST00000425634.2_Silent_p.P88P|C9orf3_ENST00000297979.5_Silent_p.P627P	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	726					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P726P(1)|p.P627P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CTCTGAGCCCCCGAACTCTGC	0.512																																																2	Substitution - coding silent(2)	kidney(2)											98	91	93					9																	97823038		2203	4300	6503	SO:0001819	synonymous_variant	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2178C>T	9.37:g.97823038C>T			Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Silent	SNP	ENST00000375315.2	37	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.308451	0.01342	.	.	ENSG00000148120	ENST00000445181	T	0.41400	1.0	5.34	-9.23	0.00672	.	0.570200	0.20526	N	0.090605	T	0.17959	0.0431	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11012	-1.0605	7	0.24483	T	0.36	-1.5387	1.7528	0.02976	0.1538:0.1944:0.2606:0.3912	.	.	.	.	S	91	ENSP00000413927:P91S	ENSP00000413927:P91S	P	+	1	0	C9orf3	96862859	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.830000	0.01699	-2.106000	0.00841	-0.897000	0.02905	CCG		0.512	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		T	97823038	C	T	97823038	2	4	534	1	0	0	0	0	0	0	0	1	2479	610	22	2		2	C9orf3	9	97823038	Silent	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	78272821	97823038	43390393	47	28595											
COL15A1	1306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	101829277	101829277	+	Silent	SNP	T	T	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:101829277T>G	ENST00000375001.3	+	40	4188	c.3765T>G	c.(3763-3765)tcT>tcG	p.S1255S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1255	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.S1255S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CATTCTTATCTTCCCATTTGC	0.463																																																1	Substitution - coding silent(1)	kidney(1)											159	135	144					9																	101829277		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3765T>G	9.37:g.101829277T>G			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.463	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		G	101829277	T	G	101829277	2	3	534	1	0	0	0	0	0	0	0	1	3674	1596	56	5		5	COL15A1	9	101829277	Silent	SNP	T	TCGA-CJ-4918-01A-01D-1429-08	4006239	101829277	39384154	48	28596											
CDK5RAP2	55755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123222946	123222946	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:123222946C>T	ENST00000349780.4	-	19	2286		c.e19-1		CDK5RAP2_ENST00000360822.3_Intron|CDK5RAP2_ENST00000360190.4_Splice_Site|CDK5RAP2_ENST00000359309.3_Splice_Site	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2						brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.?(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TAGCCAGAAGCTACATGGAGC	0.408																																																1	Unknown(1)	kidney(1)											155	126	136					9																	123222946		2203	4300	6503	SO:0001630	splice_region_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2107-1G>A	9.37:g.123222946C>T			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Splice_Site	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057643	0.76074	.	.	ENSG00000136861	ENST00000359309;ENST00000349780;ENST00000360190	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.996	0.86368	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK5RAP2	122262767	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.263000	0.58853	2.808000	0.96608	0.650000	0.86243	.		0.408	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	Intron	T	123222946	C	T	123222946	5	4	534	1	0	0	0	0	0	0	1	0	3148	811	28	2	3655	2	CDK5RAP2	9	123222946	Splice_Site	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	21393669	123222946	17990485	49	28597											
EHMT1	79813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140695437	140695437	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr9:140695437G>A	ENST00000460843.1	+	18	2739		c.e18+1			NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1						chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.?(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCGAGACAACGTAAGTTCGTC	0.597																																																2	Unknown(2)	kidney(2)											140	106	117					9																	140695437		2203	4300	6503	SO:0001630	splice_region_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2712+1G>A	9.37:g.140695437G>A			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Splice_Site	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447284	0.84101	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3646	0.94456	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EHMT1	139815258	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.317000	0.96327	2.582000	0.87167	0.561000	0.74099	.		0.597	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	Intron	A	140695437	G	A	140695437	5	1	534	1	0	0	0	0	0	0	1	0	4985	1159	40	1	2832	1	EHMT1	9	140695437	Splice_Site	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	17472491	140695437	517994	50	28598											
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61868693	61868693	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr10:61868693C>G	ENST00000280772.2	-	27	3259	c.3068G>C	c.(3067-3069)cGt>cCt	p.R1023P	ANK3_ENST00000503366.1_Missense_Mutation_p.R1024P|ANK3_ENST00000373827.2_Missense_Mutation_p.R1017P|ANK3_ENST00000355288.2_Missense_Mutation_p.R157P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1023	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R157P(1)|p.R658P(1)|p.R1023P(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTTACCAAACGGCAGGTGAT	0.562																																																3	Substitution - Missense(3)	kidney(3)											71	77	75					10																	61868693		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3068G>C	10.37:g.61868693C>G	ENSP00000280772:p.Arg1023Pro		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.597136|4.597136	0.87055|0.87055	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815;ENST00000513049|ENST00000467420	T;T;T;T;T;T|.	0.51574|.	0.7;0.7;0.7;0.7;0.7;0.7|.	6.04|6.04	6.04|6.04	0.98038|0.98038	ZU5 (3);|.	0.000000|.	0.41938|.	D|.	0.000795|.	D|D	0.83825|0.83825	0.5338|0.5338	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.971;1.0;1.0;1.0;1.0;1.0;1.0|.	P;D;D;D;D;D;D|.	0.97110|.	0.868;1.0;1.0;1.0;0.999;0.996;0.999|.	D|D	0.83676|0.83676	0.0169|0.0169	10|5	0.87932|.	D|.	0|.	.|.	20.5948|20.5948	0.99439|0.99439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1024;157;556;1017;1023;258;157|.	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2|.	.;.;.;.;ANK3_HUMAN;.;.|.	P|L	1023;1017;157;157;1024;1003;258;658;658;156;556;148;148|48	ENSP00000280772:R1023P;ENSP00000362933:R1017P;ENSP00000347436:R157P;ENSP00000425236:R1024P;ENSP00000362921:R148P;ENSP00000426582:R148P|.	ENSP00000280772:R1023P|.	R|V	-|-	2|1	0|0	ANK3|ANK3	61538699|61538699	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	CGT|GTT		0.562	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		G	61868693	C	G	61868693	3	3	534	1	0	0	0	0	1	0	0	0	622	536	19	4	10446	4	ANK3	10	61868693	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08		61868693	73666054	51	28599											
WAPAL	23063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	88230845	88230845	+	Silent	SNP	A	A	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr10:88230845A>T	ENST00000298767.5	-	8	2518	c.2046T>A	c.(2044-2046)gcT>gcA	p.A682A	WAPAL_ENST00000263070.7_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	682	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.A682A(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CACATTTAGTAGCCAAGCTAA	0.423																																																1	Substitution - coding silent(1)	kidney(1)											85	77	79					10																	88230845		2203	4300	6503	SO:0001819	synonymous_variant	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2046T>A	10.37:g.88230845A>T			A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	CCDS7375.1																																																																																				0.423	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		T	88230845	A	T	88230845	2	4	534	1	0	0	0	0	0	0	0	1	17253	407	15	5		5	WAPAL	10	88230845	Silent	SNP	A	TCGA-CJ-4918-01A-01D-1429-08	26362152	88230845	47303902	52	28600											
C11orf9	745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61545943	61545943	+	Silent	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr11:61545943C>T	ENST00000278836.5	+	14	2091	c.1995C>T	c.(1993-1995)aaC>aaT	p.N665N	MYRF_ENST00000389602.4_Silent_p.N56N|MYRF_ENST00000327797.1_Silent_p.N290N|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.N656N	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	665	Peptidase S74.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N656N(1)									CCATAGAGAACTTCCTGGTGG	0.562																																																1	Substitution - coding silent(1)	kidney(1)											112	97	102					11																	61545943		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1995C>T	11.37:g.61545943C>T			O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	CCDS44622.1																																																																																				0.562	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		T	61545943	C	T	61545943	2	4	534	1	0	0	0	0	0	0	0	1	1673	564	20	2		2	C11orf9	11	61545943	Silent	SNP	C	TCGA-CJ-4918-01A-01D-1429-08		61545943	73460573	53	28601											
GRM5	2915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	88300984	88300984	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr11:88300984C>A	ENST00000305447.4	-	7	2016	c.1867G>T	c.(1867-1869)Gct>Tct	p.A623S	GRM5_ENST00000455756.2_Missense_Mutation_p.A623S|GRM5_ENST00000418177.2_Missense_Mutation_p.A623S|GRM5_ENST00000393297.1_Missense_Mutation_p.A623S|GRM5_ENST00000305432.5_Missense_Mutation_p.A623S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	623					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A623S(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CAGATGCCAGCAAGGATAATG	0.493																																																2	Substitution - Missense(2)	kidney(2)											100	89	93					11																	88300984		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1867G>T	11.37:g.88300984C>A	ENSP00000306138:p.Ala623Ser		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658600	0.88154	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.094650	0.64402	D	0.000001	D	0.84866	0.5567	N	0.11154	0.105	0.80722	D	1	D;D	0.54964	0.961;0.969	P;P	0.56163	0.616;0.793	D	0.83958	0.0320	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	623;623	P41594-2;P41594	.;GRM5_HUMAN	S	623	ENSP00000402912:A623S;ENSP00000405690:A623S;ENSP00000305905:A623S;ENSP00000306138:A623S;ENSP00000376975:A623S	.	A	-	1	0	GRM5	87940632	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	GCT		0.493	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		A	88300984	C	A	88300984	3	1	534	1	0	0	0	0	1	0	0	0	6802	710	25	4	1783	4	GRM5	11	88300984	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	26755041	88300984	46705532	54	28602											
BCO2	83875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	112064374	112064374	+	Silent	SNP	T	T	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr11:112064374T>C	ENST00000357685.5	+	3	606	c.471T>C	c.(469-471)gtT>gtC	p.V157V	BCO2_ENST00000361053.4_Silent_p.V157V|BCO2_ENST00000526088.1_Silent_p.V123V|AP002884.3_ENST00000532612.1_Silent_p.V128V|BCO2_ENST00000393032.2_Silent_p.V123V|BCO2_ENST00000532593.1_Silent_p.V52V|BCO2_ENST00000531169.1_Silent_p.V123V|BCO2_ENST00000438022.1_Silent_p.V123V			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	157					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.V157V(1)		NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GCAAGAATGTTTTTGAACGTT	0.388																																					GBM(177;1916 2099 21049 29541 39946)											1	Substitution - coding silent(1)	kidney(1)											102	93	96					11																	112064374		2201	4297	6498	SO:0001819	synonymous_variant	83875			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.471T>C	11.37:g.112064374T>C			B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Silent	SNP	ENST00000357685.5	37	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777113	0.49786	.	.	ENSG00000197580	ENST00000530677	.	.	.	5.38	3.05	0.35203	.	.	.	.	.	T	0.46014	0.1371	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30179	-0.9987	4	.	.	.	-0.0025	2.9605	0.05890	0.1816:0.3039:0.0:0.5145	.	.	.	.	L	60	.	.	F	+	1	0	BCO2	111569584	1.000000	0.71417	0.973000	0.42090	0.986000	0.74619	1.333000	0.33816	0.355000	0.24131	0.533000	0.62120	TTT		0.388	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		C	112064374	T	C	112064374	2	2	534	1	0	0	0	0	0	0	0	1	1385	1828	64	3		3	BCO2	11	112064374	Silent	SNP	T	TCGA-CJ-4918-01A-01D-1429-08	23763390	112064374	22942142	55	28603											
RDH5	5959	broad.mit.edu;ucsc.edu	37	12	56115023	56115023	+	Missense_Mutation	SNP	A	A	G	rs564727158		TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:56115023A>G	ENST00000257895.5	+	2	207	c.55A>G	c.(55-57)Agg>Ggg	p.R19G	RP11-644F5.10_ENST00000550412.1_Intron|RDH5_ENST00000547072.1_Intron|RDH5_ENST00000548082.1_Missense_Mutation_p.R19G|RP11-644F5.10_ENST00000549424.1_Intron|RDH5_ENST00000553160.1_Intron	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	19					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)	p.R19G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	GTGGTTGCTCAGGGACCGGCA	0.622											OREG0021907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											76	67	70					12																	56115023		2203	4300	6503	SO:0001583	missense	5959			U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	9940	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 5"	601617	"retinol dehydrogenase 5 (11-cis and 9-cis)"	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.55A>G	12.37:g.56115023A>G	ENSP00000257895:p.Arg19Gly	1013	O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	A	0.814	-0.751099	0.03041	.	.	ENSG00000135437	ENST00000257895;ENST00000548082	T;T	0.72615	-0.67;-0.67	5.11	1.56	0.23342	.	0.233820	0.43747	D	0.000526	T	0.73489	0.3593	L	0.47190	1.495	0.40555	D	0.981153	D	0.76494	0.999	D	0.66084	0.941	T	0.69873	-0.5027	10	0.49607	T	0.09	.	7.3344	0.26601	0.4593:0.4269:0.0:0.1138	.	19	Q92781	RDH1_HUMAN	G	19	ENSP00000257895:R19G;ENSP00000447128:R19G	ENSP00000257895:R19G	R	+	1	2	RDH5	54401290	0.190000	0.23276	0.150000	0.22450	0.020000	0.10135	1.200000	0.32247	0.046000	0.15833	-0.333000	0.08304	AGG		0.622	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		G	56115023	A	G	56115023	3	3	534	1	0	0	0	0	1	0	0	0	13201	179	7	3	57	3	RDH5	12	56115023	Missense_Mutation	SNP	A	TCGA-CJ-4918-01A-01D-1429-08		56115023	77736872	56	28604											
B4GALNT1	2583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58020623	58020623	+	Silent	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:58020623G>A	ENST00000341156.4	-	11	2090	c.1506C>T	c.(1504-1506)gcC>gcT	p.A502A	B4GALNT1_ENST00000418555.2_Silent_p.A447A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	502					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.A502A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AACGGTACCGGGCGTAAGTCT	0.587																																																1	Substitution - coding silent(1)	kidney(1)											154	120	132					12																	58020623		2203	4300	6503	SO:0001819	synonymous_variant	2583			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1506C>T	12.37:g.58020623G>A			B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	CCDS8950.1																																																																																				0.587	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		A	58020623	G	A	58020623	2	1	534	1	0	0	0	0	0	0	0	1	1266	1219	43	2		2	B4GALNT1	12	58020623	Silent	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	1905600	58020623	75831272	57	28605											
SLC24A6	80024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113742186	113742186	+	Silent	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:113742186G>A	ENST00000552014.1	-	16	2012	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	SLC8B1_ENST00000546737.1_Silent_p.I443I|SLC8B1_ENST00000549069.1_Silent_p.I58I|SLC8B1_ENST00000202831.3_Silent_p.I499I|SLC8B1_ENST00000550047.1_Silent_p.I14I			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	499					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.I499I(1)									CACCCACGAGGATGTCTGCAG	0.537																																																1	Substitution - coding silent(1)	kidney(1)											100	97	98					12																	113742186		2203	4300	6503	SO:0001819	synonymous_variant	80024			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1497C>T	12.37:g.113742186G>A			A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	CCDS31909.1																																																																																				0.537	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		A	113742186	G	A	113742186	2	1	534	1	0	0	0	0	0	0	0	1	14476	1164	41	2		2	SLC24A6	12	113742186	Silent	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	55721563	113742186	20109709	58	28606	208	2									
SLC24A6	80024	hgsc.bcm.edu;ucsc.edu	37	12	113742187	113742187	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:113742187A>T	ENST00000552014.1	-	16	2011	c.1496T>A	c.(1495-1497)aTc>aAc	p.I499N	SLC8B1_ENST00000546737.1_Missense_Mutation_p.I443N|SLC8B1_ENST00000549069.1_Missense_Mutation_p.I58N|SLC8B1_ENST00000202831.3_Missense_Mutation_p.I499N|SLC8B1_ENST00000550047.1_Missense_Mutation_p.I14N			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	499					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										ACCCACGAGGATGTCTGCAGC	0.532																																																0													100	97	98					12																	113742187		2203	4300	6503	SO:0001583	missense	80024			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1496T>A	12.37:g.113742187A>T	ENSP00000447091:p.Ile499Asn		A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819385	0.90873	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000550047;ENST00000549069;ENST00000546737	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.35	5.35	0.76521	Sodium/calcium exchanger membrane region (1);	0.176782	0.47093	D	0.000249	T	0.72020	0.3409	M	0.81614	2.55	0.54753	D	0.999988	B;B	0.33940	0.24;0.433	B;B	0.38803	0.235;0.282	T	0.76016	-0.3113	10	0.87932	D	0	.	14.2054	0.65730	1.0:0.0:0.0:0.0	.	499;204	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	N	499;499;443;14;58;443	ENSP00000447091:I499N;ENSP00000202831:I499N;ENSP00000447585:I14N;ENSP00000449519:I58N;ENSP00000450081:I443N	ENSP00000202831:I499N	I	-	2	0	SLC24A6	112226570	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	7.845000	0.86875	2.038000	0.60285	0.444000	0.29173	ATC		0.532	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		T	113742187	A	T	113742187	3	4	534	1	0	0	0	0	1	0	0	0	14476	333	12	5	266	5	SLC24A6	12	113742187	Missense_Mutation	SNP	A	TCGA-CJ-4918-01A-01D-1429-08	1	113742187	20109708	59	28607	208	2									
SLC24A6	80024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113758188	113758188	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:113758188G>T	ENST00000552014.1	-	8	1157	c.642C>A	c.(640-642)ttC>ttA	p.F214L	SLC8B1_ENST00000546737.1_Intron|SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000202831.3_Missense_Mutation_p.F214L			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	214					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.F214L(1)									GGAAGGTCAGGAACACAGCCA	0.602																																																1	Substitution - Missense(1)	kidney(1)											179	179	179					12																	113758188		2203	4300	6503	SO:0001583	missense	80024			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.642C>A	12.37:g.113758188G>T	ENSP00000447091:p.Phe214Leu		A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526551	0.44969	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000549181	T;T;T	0.58210	0.35;0.35;0.35	4.47	2.61	0.31194	Sodium/calcium exchanger membrane region (1);	0.134298	0.50627	N	0.000115	T	0.35595	0.0937	L	0.33245	0.995	0.52099	D	0.999941	B	0.20988	0.05	B	0.27076	0.076	T	0.05937	-1.0855	10	0.15066	T	0.55	.	5.6189	0.17446	0.2388:0.1437:0.6175:0.0	.	214	Q6J4K2	NCKX6_HUMAN	L	214	ENSP00000447091:F214L;ENSP00000202831:F214L;ENSP00000448703:F214L	ENSP00000202831:F214L	F	-	3	2	SLC24A6	112242571	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	0.964000	0.29306	0.336000	0.23639	0.462000	0.41574	TTC		0.602	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		T	113758188	G	T	113758188	3	4	534	1	0	0	0	0	1	0	0	0	14476	1165	41	4	1152	4	SLC24A6	12	113758188	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	16001	113758188	20093707	60	28608											
POLE	5426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133233985	133233985	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr12:133233985G>T	ENST00000320574.5	-	28	3452	c.3409C>A	c.(3409-3411)Ctg>Atg	p.L1137M	POLE_ENST00000535270.1_Missense_Mutation_p.L1110M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1137					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.L1137M(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCGCTTCCCAGCCGCTCAATG	0.582								DNA polymerases (catalytic subunits)																																								2	Substitution - Missense(2)	kidney(2)											57	55	56					12																	133233985		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3409C>A	12.37:g.133233985G>T	ENSP00000322570:p.Leu1137Met		Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750455	0.69533	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000376577	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	6.03	3.27	0.37495	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.93678	3.445	0.50813	D	0.999893	D;D	0.89917	0.999;1.0	D;D	0.78314	0.975;0.991	T	0.58036	-0.7707	10	0.87932	D	0	.	9.4387	0.38655	0.2652:0.0:0.7348:0.0	.	1110;1137	F5H1D6;Q07864	.;DPOE1_HUMAN	M	1137;1148;1110;917;114;1072	ENSP00000322570:L1137M;ENSP00000406383:L1148M;ENSP00000445753:L1110M;ENSP00000442519:L917M	ENSP00000322570:L1137M	L	-	1	2	POLE	131744058	1.000000	0.71417	0.941000	0.38009	0.977000	0.68977	2.660000	0.46749	0.469000	0.27268	-0.781000	0.03364	CTG		0.582	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		T	133233985	G	T	133233985	3	4	534	1	0	0	0	0	1	0	0	0	12198	962	34	4	3539	4	POLE	12	133233985	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	19475797	133233985	617910	61	28609											
GJB6	10804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	20797015	20797015	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr13:20797015C>A	ENST00000356192.6	-	5	1225	c.605G>T	c.(604-606)tGc>tTc	p.C202F	GJB6_ENST00000241124.6_Missense_Mutation_p.C202F|GJB6_ENST00000400065.3_Missense_Mutation_p.C202F|GJB6_ENST00000400066.3_Missense_Mutation_p.C202F	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	202					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)		p.C202F(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		AAGCAGCATGCAAATCACAGA	0.458																																																1	Substitution - Missense(1)	kidney(1)											112	96	101					13																	20797015		2203	4300	6503	SO:0001583	missense	10804			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"Ion channels / Gap junction proteins (connexins)"	4288	protein-coding gene	gene with protein product	"connexin 30"	604418	"ectodermal dysplasia 2, hidrotic (Clouston syndrome)", "gap junction protein, beta 6 (connexin 30)", "gap junction protein, beta 6"	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.605G>T	13.37:g.20797015C>A	ENSP00000348521:p.Cys202Phe		B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857549	0.51376	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.61	5.61	0.85477	Gap junction protein, cysteine-rich domain (1);	0.000000	0.64402	D	0.000001	D	0.98767	0.9585	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99461	1.0943	10	0.87932	D	0	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	202	O95452	CXB6_HUMAN	F	202	ENSP00000241124:C202F;ENSP00000382938:C202F;ENSP00000382939:C202F;ENSP00000348521:C202F	ENSP00000241124:C202F	C	-	2	0	GJB6	19695015	1.000000	0.71417	0.992000	0.48379	0.012000	0.07955	4.784000	0.62411	2.623000	0.88846	0.655000	0.94253	TGC		0.458	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			A	20797015	C	A	20797015	3	1	534	1	0	0	0	0	1	0	0	0	6414	710	25	4	184	4	GJB6	13	20797015	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08		20797015	94372863	62	28610											
C13orf31	144811	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	44462991	44462991	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr13:44462991C>A	ENST00000441843.1	+	5	1491	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	LACC1_ENST00000325686.6_Missense_Mutation_p.P336T	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	336								p.P336T(1)									TGTACTTGGACCTTCAGTAGG	0.418																																																1	Substitution - Missense(1)	kidney(1)											333	280	298					13																	44462991		2203	4300	6503	SO:0001583	missense	0			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.1006C>A	13.37:g.44462991C>A	ENSP00000391747:p.Pro336Thr		A2A3Z6|Q8N8X5	Missense_Mutation	SNP	ENST00000441843.1	37	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611328	0.87258	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	T;T	0.74737	-0.87;-0.87	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90256	0.6953	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92164	0.5738	10	0.87932	D	0	-1.6865	18.9573	0.92664	0.0:1.0:0.0:0.0	.	336	Q8IV20	LACC1_HUMAN	T	336	ENSP00000391747:P336T;ENSP00000317619:P336T	ENSP00000317619:P336T	P	+	1	0	LACC1	43360991	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	6.970000	0.76099	2.718000	0.92993	0.650000	0.86243	CCT		0.418	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		A	44462991	C	A	44462991	3	1	534	1	0	0	0	0	1	0	0	0	1728	507	18	4	1020	4	C13orf31	13	44462991	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	23665976	44462991	70706887	63	28611											
ZC3H13	23091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	46577388	46577388	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr13:46577388C>T	ENST00000242848.4	-	8	1178	c.830G>A	c.(829-831)gGg>gAg	p.G277E	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G277E|ZC3H13_ENST00000470308.1_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	277							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G277E(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GTATTTTTTCCCCAGAGCGAT	0.368																																					Esophageal Squamous(187;747 2077 11056 31291 44172)											1	Substitution - Missense(1)	kidney(1)											133	128	130					13																	46577388		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.830G>A	13.37:g.46577388C>T	ENSP00000242848:p.Gly277Glu		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	C	12.73	2.025947	0.35701	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.33654	2.39;1.4	5.62	4.77	0.60923	.	0.000000	0.64402	D	0.000019	T	0.51975	0.1706	L	0.59436	1.845	0.80722	D	1	D;D	0.63046	0.986;0.992	P;P	0.60068	0.541;0.868	T	0.50415	-0.8831	10	0.37606	T	0.19	.	15.5937	0.76562	0.0:0.6143:0.3857:0.0	.	277;277	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	E	277;277;93	ENSP00000242848:G277E;ENSP00000282007:G277E	ENSP00000242848:G277E	G	-	2	0	ZC3H13	45475389	0.970000	0.33590	0.998000	0.56505	0.952000	0.60782	2.682000	0.46934	1.501000	0.48654	0.655000	0.94253	GGG		0.368	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		T	46577388	C	T	46577388	3	4	534	1	0	0	0	0	1	0	0	0	17570	623	22	2	3904	2	ZC3H13	13	46577388	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	2114397	46577388	68592490	64	28612											
CTAGE5	4253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	39782629	39782629	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr14:39782629G>A	ENST00000280083.3	+	14	1593	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	CTAGE5_ENST00000557038.1_Missense_Mutation_p.E347K|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E962K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E427K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E398K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E398K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E352K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E398K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E432K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E427K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E415K			O15320	CTGE5_HUMAN	CTAGE family, member 5	427					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.E427K(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGCCACTGAAGAGCTGGAGAC	0.299																																																1	Substitution - Missense(1)	kidney(1)											52	62	59					14																	39782629		2203	4287	6490	SO:0001583	missense	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1279G>A	14.37:g.39782629G>A	ENSP00000280083:p.Glu427Lys		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695497	0.88830	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.34	5.34	0.76211	.	.	.	.	.	T	0.54806	0.1881	M	0.70275	2.135	0.52099	D	0.99994	B;B;B;B;B;B	0.32620	0.378;0.155;0.149;0.155;0.089;0.093	B;B;B;B;B;B	0.33799	0.169;0.068;0.121;0.068;0.17;0.068	T	0.53892	-0.8374	8	.	.	.	.	17.1884	0.86872	0.0:0.0:1.0:0.0	.	389;432;427;427;398;415	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	K	962;415;347;389;398;427;432;427;352;427;398	ENSP00000452252:E962K;ENSP00000343897:E415K;ENSP00000450869:E347K;ENSP00000379468:E398K;ENSP00000339286:E427K;ENSP00000379462:E432K;ENSP00000280083:E427K;ENSP00000452562:E352K;ENSP00000343912:E427K;ENSP00000450449:E398K	.	E	+	1	0	CTAGE5;RP11-407N17.3	38852380	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	6.841000	0.75374	2.664000	0.90586	0.650000	0.86243	GAG		0.299	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		A	39782629	G	A	39782629	3	1	534	1	0	0	0	0	1	0	0	0	3996	943	33	2	1364	2	CTAGE5	14	39782629	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08		39782629	67566911	65	28613											
HIF1A	3091	broad.mit.edu;hgsc.bcm.edu	37	14	62211422	62211422	+	Splice_Site	SNP	G	G	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr14:62211422G>C	ENST00000337138.4	+	13	2358		c.e13-1		HIF1A_ENST00000394997.1_Splice_Site|HIF1A_ENST00000323441.6_Splice_Site|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Splice_Site|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000539097.1_Splice_Site	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)						angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TTTCTTTTCAGAACTACAGTT	0.303																																																1	Unknown(1)	kidney(1)											35	37	36					14																	62211422		2203	4300	6503	SO:0001630	splice_region_variant	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2094-1G>C	14.37:g.62211422G>C			C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Splice_Site	SNP	ENST00000337138.4	37	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756488	0.69648	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7273	0.96170	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HIF1A	61281175	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.704000	0.68347	2.718000	0.92993	0.655000	0.94253	.		0.303	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530	Intron	C	62211422	G	C	62211422	5	2	534	1	0	0	0	0	0	0	1	0	7105	956	33	4	2143	4	HIF1A	14	62211422	Splice_Site	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	22428793	62211422	45138118	66	28614											
COPS2	9318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49429387	49429387	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr15:49429387T>C	ENST00000388901.5	-	6	573	c.500A>G	c.(499-501)aAg>aGg	p.K167R	COPS2_ENST00000542928.1_Missense_Mutation_p.K103R|Y_RNA_ENST00000363250.1_RNA|COPS2_ENST00000299259.6_Missense_Mutation_p.K174R	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	167					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.K167R(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTTTTGAAGCTTTCCATATTC	0.303																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)											1	Substitution - Missense(1)	kidney(1)											44	48	46					15																	49429387		2196	4295	6491	SO:0001583	missense	9318			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.500A>G	15.37:g.49429387T>C	ENSP00000373553:p.Lys167Arg		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.261385	0.23051	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	T;T;T	0.78003	-1.14;-0.91;-1.14	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	N	0.10782	0.045	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.57081	-0.7872	10	0.05620	T	0.96	.	15.9509	0.79835	0.0:0.0:0.0:1.0	.	103;175;167	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	R	174;167;103	ENSP00000299259:K174R;ENSP00000373553:K167R;ENSP00000443664:K103R	ENSP00000299259:K174R	K	-	2	0	COPS2	47216679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.225000	0.72522	0.533000	0.62120	AAG		0.303	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		C	49429387	T	C	49429387	3	2	534	1	0	0	0	0	1	0	0	0	3735	1609	56	3	863	3	COPS2	15	49429387	Missense_Mutation	SNP	T	TCGA-CJ-4918-01A-01D-1429-08		49429387	53102005	67	28615											
CSK	1445	broad.mit.edu;hgsc.bcm.edu	37	15	75091783	75091783	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr15:75091783T>A	ENST00000220003.9	+	5	1142	c.413T>A	c.(412-414)cTc>cAc	p.L138H	CSK_ENST00000567571.1_Missense_Mutation_p.L138H|CSK_ENST00000439220.2_Missense_Mutation_p.L138H|CSK_ENST00000309470.9_Missense_Mutation_p.L138H	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	138	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)	p.L138H(1)		central_nervous_system(1)|lung(2)	3						GCCAGCAAGCTCAGCATCGAC	0.602																																																1	Substitution - Missense(1)	kidney(1)											74	55	61					15																	75091783		2197	4296	6493	SO:0001583	missense	1445				CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.413T>A	15.37:g.75091783T>A	ENSP00000220003:p.Leu138His		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784693	0.90282	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	D;D;D	0.89415	-2.51;-2.51;-2.51	4.63	4.63	0.57726	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94470	0.8220	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95265	0.8372	10	0.87932	D	0	-19.5805	13.8553	0.63522	0.0:0.0:0.0:1.0	.	138	P41240	CSK_HUMAN	H	138;138;87;138	ENSP00000220003:L138H;ENSP00000414764:L138H;ENSP00000438808:L138H	ENSP00000220003:L138H	L	+	2	0	CSK	72878836	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.944000	0.70219	1.951000	0.56629	0.402000	0.26972	CTC		0.602	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		A	75091783	T	A	75091783	3	1	534	1	0	0	0	0	1	0	0	0	3945	1551	54	5	427	5	CSK	15	75091783	Missense_Mutation	SNP	T	TCGA-CJ-4918-01A-01D-1429-08	25662396	75091783	27439609	68	28616											
RBL2	5934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53495738	53495738	+	Nonsense_Mutation	SNP	G	G	T	rs556478318		TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr16:53495738G>T	ENST00000262133.6	+	10	1569	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Nonsense_Mutation_p.E262*	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	478	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.E478*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAGCCAGACGAGGATTTCAG	0.338																																																1	Substitution - Nonsense(1)	kidney(1)											135	128	130					16																	53495738		2198	4300	6498	SO:0001587	stop_gained	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1432G>T	16.37:g.53495738G>T	ENSP00000262133:p.Glu478*		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Nonsense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519492	0.96416	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	.	.	.	6.07	6.07	0.98685	.	0.230546	0.44688	D	0.000439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-19.3323	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	478;404;188;262	.	ENSP00000262133:E478X	E	+	1	0	RBL2	52053239	1.000000	0.71417	0.993000	0.49108	0.079000	0.17450	7.763000	0.85283	2.885000	0.99019	0.655000	0.94253	GAG		0.338	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		T	53495738	G	T	53495738	4	4	534	1	0	0	0	0	0	1	0	0	13116	1059	37	4	1470	4	RBL2	16	53495738	Nonsense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08		53495738	36859015	69	28617											
SLC38A8	146167	broad.mit.edu	37	16	84063144	84063144	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr16:84063144C>A	ENST00000299709.3	-	5	644	c.645G>T	c.(643-645)tgG>tgT	p.W215C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	215					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.W215C(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACACAGAGGTCCAGGAGGCAG	0.502																																																1	Substitution - Missense(1)	kidney(1)											90	88	89					16																	84063144		2200	4300	6500	SO:0001583	missense	146167				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.645G>T	16.37:g.84063144C>A	ENSP00000299709:p.Trp215Cys			Missense_Mutation	SNP	ENST00000299709.3	37	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177571	0.78564	.	.	ENSG00000166558	ENST00000299709	T	0.02216	4.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00768	-1.1574	10	0.38643	T	0.18	.	18.8146	0.92072	0.0:1.0:0.0:0.0	.	215	A6NNN8	S38A8_HUMAN	C	215	ENSP00000299709:W215C	ENSP00000299709:W215C	W	-	3	0	SLC38A8	82620645	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.223000	0.65283	2.621000	0.88768	0.643000	0.83706	TGG		0.502	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		A	84063144	C	A	84063144	3	1	534	1	0	0	0	0	1	0	0	0	14616	856	30	4	686	4	SLC38A8	16	84063144	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	30567406	84063144	6291609	70	28618											
AIPL1	23746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	6331788	6331788	+	Silent	SNP	C	C	T			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr17:6331788C>T	ENST00000381129.3	-	3	395	c.315G>A	c.(313-315)agG>agA	p.R105R	AIPL1_ENST00000574506.1_Silent_p.R93R|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000575265.1_Silent_p.R105R|AIPL1_ENST00000576307.1_Silent_p.R45R|AIPL1_ENST00000570466.1_Silent_p.R83R|AIPL1_ENST00000576776.1_Silent_p.R105R|AIPL1_ENST00000571740.1_Silent_p.R105R	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	105	PPIase FKBP-type.				negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)	p.R105R(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GGGCCATCTGCCTCAGGCTCC	0.632																																																1	Substitution - coding silent(1)	kidney(1)											84	70	75					17																	6331788		2203	4300	6503	SO:0001819	synonymous_variant	23746			AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.315G>A	17.37:g.6331788C>T			D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Silent	SNP	ENST00000381129.3	37	CCDS11075.1																																																																																				0.632	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		T	6331788	C	T	6331788	2	4	534	1	0	0	0	0	0	0	0	1	436	738	26	2		2	AIPL1	17	6331788	Silent	SNP	C	TCGA-CJ-4918-01A-01D-1429-08		6331788	74863422	71	28619											
NBR1	4077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41349125	41349125	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr17:41349125T>C	ENST00000422280.1	+	16	2485		c.e16+2		NBR1_ENST00000589872.1_Splice_Site|NBR1_ENST00000389312.4_Splice_Site|NBR1_ENST00000542611.1_Splice_Site|NBR1_ENST00000590996.1_Splice_Site|NBR1_ENST00000341165.6_Splice_Site	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1						macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CCTTGCAGAGTGAGTGTCCTT	0.517																																																1	Unknown(1)	kidney(1)											70	60	63					17																	41349125		1568	3582	5150	SO:0001630	splice_region_variant	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2026+2T>C	17.37:g.41349125T>C			Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Splice_Site	SNP	ENST00000422280.1	37	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951641	0.73787	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.099	0.81152	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBR1	38704651	1.000000	0.71417	0.998000	0.56505	0.695000	0.40330	6.291000	0.72719	2.210000	0.71456	0.482000	0.46254	.		0.517	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899	Intron	C	41349125	T	C	41349125	5	2	534	1	0	0	0	0	0	0	1	0	10202	1710	59	3	2086	3	NBR1	17	41349125	Splice_Site	SNP	T	TCGA-CJ-4918-01A-01D-1429-08	35017337	41349125	39846085	72	28620											
CLTC	1213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57758814	57758814	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr17:57758814T>C	ENST00000269122.3	+	20	3498	c.3224T>C	c.(3223-3225)tTt>tCt	p.F1075S	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.F1075S	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1075	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.F1075S(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTCCGGAAATTTGATGTCAAT	0.408			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	1	Substitution - Missense(1)	kidney(1)											85	83	84					17																	57758814		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3224T>C	17.37:g.57758814T>C	ENSP00000269122:p.Phe1075Ser		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712623	0.89112	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.19938	2.11;2.11	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.89658	3.05	0.80722	D	1	D;P	0.71674	0.998;0.52	D;B	0.87578	0.998;0.345	T	0.64668	-0.6353	10	0.66056	D	0.02	.	15.9985	0.80270	0.0:0.0:0.0:1.0	.	1075;1075	Q00610;Q00610-2	CLH1_HUMAN;.	S	1075	ENSP00000269122:F1075S;ENSP00000376763:F1075S	ENSP00000269122:F1075S	F	+	2	0	CLTC	55113596	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.997000	0.88414	2.233000	0.73108	0.455000	0.32223	TTT		0.408	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		C	57758814	T	C	57758814	3	2	534	1	0	0	0	0	1	0	0	0	3568	1841	64	3	3302	3	CLTC	17	57758814	Missense_Mutation	SNP	T	TCGA-CJ-4918-01A-01D-1429-08	16409689	57758814	23436396	73	28621											
ATP8B1	5205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	55361849	55361849	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr18:55361849T>C	ENST00000283684.4	-	10	993	c.994A>G	c.(994-996)Aaa>Gaa	p.K332E	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.K332E			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	332					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K332E(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAATCAATTTTAGTTCTTTTA	0.308																																																1	Substitution - Missense(1)	kidney(1)											145	144	144					18																	55361849		2201	4299	6500	SO:0001583	missense	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.994A>G	18.37:g.55361849T>C	ENSP00000283684:p.Lys332Glu		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719897	0.68844	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.88277	-2.36;-2.36	5.09	5.09	0.68999	ATPase, P-type, ATPase-associated domain (1);	0.098347	0.64402	D	0.000001	D	0.89674	0.6783	M	0.64170	1.965	0.39590	D	0.969567	P	0.36683	0.565	B	0.43916	0.436	D	0.89937	0.4070	10	0.44086	T	0.13	.	14.5442	0.68017	0.0:0.0:0.0:1.0	.	332	O43520	AT8B1_HUMAN	E	332	ENSP00000283684:K332E;ENSP00000445359:K332E	ENSP00000283684:K332E	K	-	1	0	ATP8B1	53512847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.082000	0.71318	1.922000	0.55676	0.533000	0.62120	AAA		0.308	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		C	55361849	T	C	55361849	3	2	534	1	0	0	0	0	1	0	0	0	1194	1763	61	3	2833	3	ATP8B1	18	55361849	Missense_Mutation	SNP	T	TCGA-CJ-4918-01A-01D-1429-08		55361849	22715399	74	28622											
ZBTB7A	51341	broad.mit.edu;hgsc.bcm.edu	37	19	4048233	4048233	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr19:4048233C>A	ENST00000322357.4	-	3	1550	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.K424N	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	424					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)	p.K424N(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTTCAGCTTGTCCTGCC	0.692																																																1	Substitution - Missense(1)	kidney(1)											29	32	31					19																	4048233		2203	4300	6503	SO:0001583	missense	51341			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1272G>T	19.37:g.4048233C>A	ENSP00000323670:p.Lys424Asn		D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486571	0.63962	.	.	ENSG00000178951	ENST00000322357	T	0.07444	3.19	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.07863	0.0197	N	0.00926	-1.1	0.42298	D	0.992163	D	0.89917	1.0	D	0.91635	0.999	T	0.58222	-0.7674	10	0.30854	T	0.27	.	13.248	0.60033	0.0:1.0:0.0:0.0	.	424	O95365	ZBT7A_HUMAN	N	424	ENSP00000323670:K424N	ENSP00000323670:K424N	K	-	3	2	ZBTB7A	3999233	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.405000	0.44548	1.700000	0.51204	0.542000	0.68232	AAG		0.692	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		A	4048233	C	A	4048233	3	1	534	1	0	0	0	0	1	0	0	0	17558	796	28	4	486	4	ZBTB7A	19	4048233	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08		4048233	55080750	75	28623											
PDE4C	5143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18331077	18331077	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr19:18331077G>A	ENST00000355502.3	-	11	1632	c.761C>T	c.(760-762)tCc>tTc	p.S254F	PDE4C_ENST00000262805.12_Missense_Mutation_p.S222F|PDE4C_ENST00000594465.3_Missense_Mutation_p.S254F|PDE4C_ENST00000539010.1_Missense_Mutation_p.S23F|PDE4C_ENST00000597297.1_Missense_Mutation_p.S24F|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.S254F|PDE4C_ENST00000447275.3_Missense_Mutation_p.S148F|PDE4C_ENST00000598111.2_Missense_Mutation_p.S24F			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	254					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.S254F(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTGGTTCCCGGAGCGGCTGGT	0.567																																																1	Substitution - Missense(1)	kidney(1)											106	114	111					19																	18331077		2203	4300	6503	SO:0001583	missense	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.761C>T	19.37:g.18331077G>A	ENSP00000347689:p.Ser254Phe		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315721	0.81469	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.80393	-1.37;-1.32;-1.22;-0.79	4.83	4.83	0.62350	.	1.501690	0.03720	N	0.251691	D	0.93288	0.7861	M	0.92923	3.36	0.48288	D	0.999624	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.74023	0.962;0.981;0.982;0.971	D	0.84463	0.0595	10	0.87932	D	0	.	15.4203	0.75006	0.0:0.0:1.0:0.0	.	254;222;60;24	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	F	333;254;242;222;148;60;23;23;363	ENSP00000347689:S254F;ENSP00000262805:S222F;ENSP00000402091:S148F;ENSP00000439470:S23F	ENSP00000262805:S222F	S	-	2	0	PDE4C	18192077	1.000000	0.71417	0.927000	0.36925	0.688000	0.40055	9.311000	0.96282	2.247000	0.74100	0.486000	0.48141	TCC		0.567	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			A	18331077	G	A	18331077	3	1	534	1	0	0	0	0	1	0	0	0	11643	1174	41	2	1413	2	PDE4C	19	18331077	Missense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08	14282844	18331077	40797906	76	28624											
SIPA1L3	23094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38572298	38572298	+	Silent	SNP	A	A	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr19:38572298A>G	ENST00000222345.6	+	3	602	c.93A>G	c.(91-93)acA>acG	p.T31T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	31					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.T31T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCACACACAGGGGACTACG	0.682																																																1	Substitution - coding silent(1)	kidney(1)											29	27	28					19																	38572298		2197	4294	6491	SO:0001819	synonymous_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.93A>G	19.37:g.38572298A>G			Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																				0.682	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		G	38572298	A	G	38572298	2	3	534	1	0	0	0	0	0	0	0	1	14337	175	7	3		3	SIPA1L3	19	38572298	Silent	SNP	A	TCGA-CJ-4918-01A-01D-1429-08	20241221	38572298	20556685	77	28625											
ZNF211	10520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58153167	58153167	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr19:58153167C>G	ENST00000347302.3	+	3	1492	c.1313C>G	c.(1312-1314)tCc>tGc	p.S438C	ZNF211_ENST00000254182.7_Missense_Mutation_p.S429C|ZNF211_ENST00000541801.1_Missense_Mutation_p.S429C|ZNF211_ENST00000420680.1_Missense_Mutation_p.S442C|ZNF211_ENST00000299871.5_Missense_Mutation_p.S503C|ZNF211_ENST00000240731.4_Missense_Mutation_p.S451C|ZNF211_ENST00000544273.1_Missense_Mutation_p.S450C|ZNF211_ENST00000391703.3_Missense_Mutation_p.S377C	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S451C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCAAAGCTCCAGCTTCAGT	0.488																																																1	Substitution - Missense(1)	kidney(1)											92	93	92					19																	58153167		2203	4300	6503	SO:0001583	missense	10520			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1313C>G	19.37:g.58153167C>G	ENSP00000339562:p.Ser438Cys		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	c	13.91	2.379455	0.42207	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	3.21	0.706	0.18133	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27629	0.0679	M	0.85630	2.765	0.09310	N	1	B;B;D;D;B;B	0.71674	0.022;0.184;0.998;0.996;0.061;0.061	B;B;D;P;B;B	0.72982	0.012;0.133;0.979;0.895;0.035;0.035	T	0.03121	-1.1070	9	0.62326	D	0.03	.	8.4457	0.32841	0.1701:0.6635:0.1663:0.0	.	442;450;503;429;438;451	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	C	442;438;429;377;429;503;450;451	ENSP00000399193:S442C;ENSP00000339562:S438C;ENSP00000254182:S429C;ENSP00000375584:S377C;ENSP00000442601:S429C;ENSP00000299871:S503C;ENSP00000441386:S450C;ENSP00000240731:S451C	ENSP00000240731:S451C	S	+	2	0	ZNF211	62844979	0.000000	0.05858	0.005000	0.12908	0.974000	0.67602	-0.059000	0.11731	0.645000	0.30675	0.585000	0.79938	TCC		0.488	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			G	58153167	C	G	58153167	3	3	534	1	0	0	0	0	1	0	0	0	17772	855	30	4	1366	4	ZNF211	19	58153167	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08	19580869	58153167	975816	78	28626											
ZSCAN1	284312	hgsc.bcm.edu	37	19	58551902	58551902	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr19:58551902A>C	ENST00000282326.1	+	4	702	c.455A>C	c.(454-456)gAa>gCa	p.E152A		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	152					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.E152A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCCAGAAAGAACCATCGCAG	0.627																																																1	Substitution - Missense(1)	kidney(1)											88	95	93					19																	58551902		2203	4300	6503	SO:0001583	missense	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.455A>C	19.37:g.58551902A>C	ENSP00000282326:p.Glu152Ala		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	A	9.173	1.021530	0.19433	.	.	ENSG00000152467	ENST00000282326	T	0.04194	3.68	1.09	1.09	0.20402	.	.	.	.	.	T	0.02193	0.0068	N	0.14661	0.345	0.80722	D	1	B	0.26002	0.139	B	0.20384	0.029	T	0.45293	-0.9271	9	0.08837	T	0.75	.	4.386	0.11316	1.0:0.0:0.0:0.0	.	152	Q8NBB4	ZSCA1_HUMAN	A	152	ENSP00000282326:E152A	ENSP00000282326:E152A	E	+	2	0	ZSCAN1	63243714	0.001000	0.12720	0.933000	0.37362	0.806000	0.45545	0.072000	0.14617	0.747000	0.32809	0.260000	0.18958	GAA		0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		C	58551902	A	C	58551902	3	2	534	1	0	0	0	0	1	0	0	0	18231	246	9	5	461	5	ZSCAN1	19	58551902	Missense_Mutation	SNP	A	TCGA-CJ-4918-01A-01D-1429-08	398735	58551902	577081	79	28627											
JAG1	182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	10627597	10627597	+	Nonsense_Mutation	SNP	G	G	T	rs533849006		TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr20:10627597G>T	ENST00000254958.5	-	14	2390	c.1875C>A	c.(1873-1875)taC>taA	p.Y625*	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Nonsense_Mutation_p.Y466*	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	625	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.Y625*(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTTCATGGCAGTATGTTCCCG	0.572									Alagille Syndrome																																							2	Substitution - Nonsense(2)	kidney(2)	GRCh37	CM993753	JAG1	M							174	158	163					20																	10627597		2203	4300	6503	SO:0001587	stop_gained	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1875C>A	20.37:g.10627597G>T	ENSP00000254958:p.Tyr625*		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Nonsense_Mutation	SNP	ENST00000254958.5	37	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	43	10.022343	0.99319	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	625;466	.	ENSP00000254958:Y625X	Y	-	3	2	JAG1	10575597	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.738000	0.74822	2.884000	0.98904	0.655000	0.94253	TAC		0.572	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		T	10627597	G	T	10627597	4	4	534	1	0	0	0	0	0	1	0	0	7936	1024	36	4	1833	4	JAG1	20	10627597	Nonsense_Mutation	SNP	G	TCGA-CJ-4918-01A-01D-1429-08		10627597	52397923	80	28628											
TMPRSS15	5651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	19701513	19701513	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4918-01A-01D-1429-08	TCGA-CJ-4918-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c5d4600-0271-4c03-ab44-239ac19d8b4d	80f9282a-cc37-4eb9-9b12-afac245fc8bd	g.chr21:19701513C>A	ENST00000284885.3	-	15	1786	c.1753G>T	c.(1753-1755)Ggt>Tgt	p.G585C		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	585	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.G585C(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCTTCTTCACCATCTCTTATT	0.328																																																1	Substitution - Missense(1)	kidney(1)											111	106	107					21																	19701513		2203	4299	6502	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1753G>T	21.37:g.19701513C>A	ENSP00000284885:p.Gly585Cys		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202155	0.58234	.	.	ENSG00000154646	ENST00000284885	T	0.27402	1.67	5.53	4.65	0.58169	CUB (5);	0.286036	0.32533	N	0.005977	T	0.65080	0.2657	H	0.94183	3.505	0.50039	D	0.999849	D	0.89917	1.0	D	0.91635	0.999	T	0.75007	-0.3469	9	.	.	.	.	12.3361	0.55067	0.0:0.9176:0.0:0.0824	.	585	P98073	ENTK_HUMAN	C	585	ENSP00000284885:G585C	.	G	-	1	0	TMPRSS15	18623384	1.000000	0.71417	0.984000	0.44739	0.631000	0.37964	4.023000	0.57211	1.475000	0.48197	0.655000	0.94253	GGT		0.328	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		A	19701513	C	A	19701513	3	1	534	1	0	0	0	0	1	0	0	0	16251	594	21	4	1350	4	TMPRSS15	21	19701513	Missense_Mutation	SNP	C	TCGA-CJ-4918-01A-01D-1429-08		19701513	28428382	81	28629											
DEM1	64789	hgsc.bcm.edu;ucsc.edu	37	1	40980774	40980783	+	Frame_Shift_Del	DEL	TACAGCCAAG	TACAGCCAAG	-	rs370886885		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	TACAGCCAAG	TACAGCCAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:40980774_40980783delTACAGCCAAG	ENST00000372703.1	+	2	1632_1641	c.558_567delTACAGCCAAG	c.(556-567)tatacagccaagfs	p.YTAK186fs	EXO5_ENST00000296380.4_Frame_Shift_Del_p.YTAK186fs|RP11-656D10.5_ENST00000453437.1_RNA|RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.YTAK186fs			Q9H790	EXO5_HUMAN	exonuclease 5	186					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										AGCTGCACTATACAGCCAAGGGGGAACTGG	0.51																																																0																																										SO:0001589	frameshift_variant	0			AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)"	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.558_567delTACAGCCAAG	1.37:g.40980774_40980783delTACAGCCAAG	ENSP00000361788:p.Tyr186fs		D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Frame_Shift_Del	DEL	ENST00000372703.1	37	CCDS453.1																																																																																				0.51	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		-	40980783	TACAGCCAAG	-	40980774	7	5	535	1	0	1	0	1	0	0	0	0	4427	1413	49	0	560	0	DEM1	1	40980774	Frame_Shift_Del	DEL	TACAGCCAAG	TCGA-CJ-4920-01A-01D-1429-08		40980774	208269847	1	28630											
DOCK7	85440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62973695	62973695	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:62973695C>A	ENST00000340370.5	-	34	4338	c.4321G>T	c.(4321-4323)Gat>Tat	p.D1441Y	DOCK7_ENST00000251157.5_Missense_Mutation_p.D1463Y	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1472					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.D1441Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGGTTTCCATCAATCAGTGCT	0.294																																																1	Substitution - Missense(1)	kidney(1)											128	122	124					1																	62973695		2203	4299	6502	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4321G>T	1.37:g.62973695C>A	ENSP00000340742:p.Asp1441Tyr		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.873183|4.873183	0.91664|0.91664	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	T;T|.	0.01838|.	4.61;4.61|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70710|.	0.3255|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.62365|.	0.972;0.991;0.984;0.991;0.98;0.96|.	P;P;D;D;P;P|.	0.64595|.	0.88;0.891;0.927;0.927;0.891;0.891|.	T|.	0.66720|.	-0.5852|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.4412|19.4412	0.94821|0.94821	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1472;1463;1441;1432;1432;1463|.	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	DOCK7_HUMAN;.;.;.;.;.|.	Y|L	1472;1463;1441;202|634	ENSP00000251157:D1463Y;ENSP00000340742:D1441Y|.	ENSP00000251157:D1463Y|.	D|X	-|-	1|2	0|2	DOCK7|DOCK7	62746283|62746283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.583000|2.583000	0.87209|0.87209	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.294	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		A	62973695	C	A	62973695	3	1	535	1	0	0	0	0	1	0	0	0	4694	826	29	4	2072	4	DOCK7	1	62973695	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	21992921	62973695	186276926	2	28631											
ST6GALNAC3	256435	hgsc.bcm.edu;ucsc.edu	37	1	77094481	77094482	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:77094481_77094482insA	ENST00000328299.3	+	5	1056_1057	c.908_909insA	c.(907-912)acattgfs	p.L304fs		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	304					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CCAAACTGGACATTGTCTTGAT	0.411																																																0																																										SO:0001589	frameshift_variant	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.909dupA	1.37:g.77094482_77094482dupA	ENSP00000329214:p.Leu304fs		Q6PCE0|Q6UX29|Q8N259	Frame_Shift_Ins	INS	ENST00000328299.3	37	CCDS672.1																																																																																				0.411	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		A	77094482	-	A	77094481	7	5	535	1	0	1	1	0	0	0	0	0	15230	478	17	0	940	0	ST6GALNAC3	1	77094481	Frame_Shift_Ins	INS	-	TCGA-CJ-4920-01A-01D-1429-08	14120786	77094481	172156140	3	28632											
SLC16A4	9122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110906399	110906399	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:110906399T>C	ENST00000369779.4	-	9	1702	c.1453A>G	c.(1453-1455)Agt>Ggt	p.S485G	SLC16A4_ENST00000541986.1_Missense_Mutation_p.S423G|SLC16A4_ENST00000472422.2_Missense_Mutation_p.S437G|SLC16A4_ENST00000369781.4_Missense_Mutation_p.S317G|SLC16A4_ENST00000437429.2_Silent_p.T381T	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	485					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)	p.S485G(1)		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)	CAGGTCAGACTGTTTTTCCAT	0.378																																																1	Substitution - Missense(1)	kidney(1)											93	90	91					1																	110906399		2203	4300	6503	SO:0001583	missense	9122			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.1453A>G	1.37:g.110906399T>C	ENSP00000358794:p.Ser485Gly		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	CCDS823.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.972475	0.34848	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781;ENST00000541986	T;T;T;T	0.59638	2.5;2.37;0.25;2.49	4.88	1.04	0.20106	Major facilitator superfamily domain (1);	2.733540	0.01739	U	0.029282	T	0.14527	0.0351	N	0.04959	-0.14	0.09310	N	1	B;B;B;B;B	0.11235	0.001;0.004;0.001;0.0;0.001	B;B;B;B;B	0.11329	0.005;0.006;0.003;0.002;0.005	T	0.07328	-1.0778	10	0.29301	T	0.29	.	4.7607	0.13106	0.2913:0.0857:0.0:0.623	.	423;437;485;317;485	B4DJ67;G3V175;Q53FH9;Q8WU09;O15374	.;.;.;.;MOT5_HUMAN	G	485;437;317;423	ENSP00000358794:S485G;ENSP00000432495:S437G;ENSP00000358796:S317G;ENSP00000446087:S423G	ENSP00000358794:S485G	S	-	1	0	SLC16A4	110707922	1.000000	0.71417	0.049000	0.19019	0.861000	0.49209	1.562000	0.36353	0.260000	0.21731	0.523000	0.50628	AGT		0.378	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		C	110906399	T	C	110906399	3	2	535	1	0	0	0	0	1	0	0	0	14416	1580	55	3	14	3	SLC16A4	1	110906399	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	33811918	110906399	138344222	4	28633											
CASQ2	845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	116243998	116243998	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:116243998G>C	ENST00000261448.5	-	11	1303	c.1064C>G	c.(1063-1065)gCt>gGt	p.A355G	CASQ2_ENST00000456138.2_Missense_Mutation_p.A284G	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	355					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|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 heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.A355G(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CAGCTCCTCAGCAGTTGGAAG	0.448																																																1	Substitution - Missense(1)	kidney(1)											125	103	111					1																	116243998		2203	4300	6503	SO:0001583	missense	845			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"Protein disulfide isomerases"	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1064C>G	1.37:g.116243998G>C	ENSP00000261448:p.Ala355Gly		B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	CCDS884.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159330	0.78226	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.76186	-1.0;-1.0	6.16	5.25	0.73442	Thioredoxin-like fold (2);	0.098314	0.64402	D	0.000001	T	0.79009	0.4374	M	0.83012	2.62	0.58432	D	0.999999	P;P	0.46784	0.879;0.884	P;P	0.53649	0.724;0.731	T	0.80228	-0.1469	10	0.39692	T	0.17	-15.2901	15.3474	0.74350	0.0672:0.0:0.9328:0.0	.	284;355	B4DIB0;O14958	.;CASQ2_HUMAN	G	355;284;309	ENSP00000261448:A355G;ENSP00000403858:A284G	ENSP00000261448:A355G	A	-	2	0	CASQ2	116045521	1.000000	0.71417	0.273000	0.24645	0.516000	0.34256	5.358000	0.66064	1.621000	0.50320	0.650000	0.86243	GCT		0.448	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		C	116243998	G	C	116243998	3	2	535	1	0	0	0	0	1	0	0	0	2683	971	34	4	139	4	CASQ2	1	116243998	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	5337599	116243998	133006623	5	28634											
NOTCH2	4853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120462002	120462002	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:120462002G>T	ENST00000256646.2	-	31	5933	c.5714C>A	c.(5713-5715)gCc>gAc	p.A1905D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1905					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.A1905D(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGTCCTGGGCATTGGCATC	0.567			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	kidney(1)											69	63	65					1																	120462002		2203	4300	6503	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5714C>A	1.37:g.120462002G>T	ENSP00000256646:p.Ala1905Asp		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371562	0.82573	.	.	ENSG00000134250	ENST00000256646	T	0.67171	-0.25	5.64	5.64	0.86602	Ankyrin repeat-containing domain (4);	0.000000	0.37577	U	0.002029	T	0.75525	0.3861	M	0.81341	2.54	0.54753	D	0.999984	D	0.61080	0.989	P	0.54629	0.757	T	0.78819	-0.2054	10	0.66056	D	0.02	.	18.6855	0.91562	0.0:0.0:1.0:0.0	.	1905	Q04721	NOTC2_HUMAN	D	1905	ENSP00000256646:A1905D	ENSP00000256646:A1905D	A	-	2	0	NOTCH2	120263525	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	4.174000	0.58256	2.674000	0.91012	0.655000	0.94253	GCC		0.567	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		T	120462002	G	T	120462002	3	4	535	1	0	0	0	0	1	0	0	0	10550	1203	42	4	1717	4	NOTCH2	1	120462002	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	4218004	120462002	128788619	6	28635											
ADAR	103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154574246	154574246	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:154574246A>G	ENST00000368474.4	-	2	1071	c.872T>C	c.(871-873)cTt>cCt	p.L291P	ADAR_ENST00000292205.5_Missense_Mutation_p.L334P|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	291					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L291P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAAAAACTCAAGAGGATCTTC	0.468																																																1	Substitution - Missense(1)	kidney(1)											128	134	132					1																	154574246		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.872T>C	1.37:g.154574246A>G	ENSP00000357459:p.Leu291Pro		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	A	9.570	1.120786	0.20877	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.12465	2.68;2.69;2.7	4.29	0.996	0.19844	Double-stranded RNA-specific adenosine deaminase (DRADA) (1);	1.529050	0.03145	N	0.167198	T	0.02193	0.0068	N	0.04508	-0.205	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.001	T	0.39272	-0.9622	10	0.44086	T	0.13	-0.0446	8.6679	0.34132	0.3871:0.0:0.6129:0.0	.	291;291;291	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	P	334;291;286	ENSP00000292205:L334P;ENSP00000357459:L291P;ENSP00000431794:L286P	ENSP00000292205:L334P	L	-	2	0	ADAR	152840870	0.000000	0.05858	0.001000	0.08648	0.250000	0.25880	-0.089000	0.11180	0.388000	0.25054	0.402000	0.26972	CTT		0.468	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		G	154574246	A	G	154574246	3	3	535	1	0	0	0	0	1	0	0	0	281	72	3	3	2864	3	ADAR	1	154574246	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	34112244	154574246	94676375	7	28636											
SEMA4A	64218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156127886	156127886	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:156127886A>G	ENST00000368285.3	+	4	593	c.326A>G	c.(325-327)aAa>aGa	p.K109R	SEMA4A_ENST00000368286.2_Missense_Mutation_p.K10R|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.K109R|SEMA4A_ENST00000368282.1_Missense_Mutation_p.K109R|SEMA4A_ENST00000368284.1_Missense_Mutation_p.K10R	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	109	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K109R(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGTGACAGAAAAAAGAGTGAA	0.517																																																1	Substitution - Missense(1)	kidney(1)											95	84	88					1																	156127886		2203	4300	6503	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.326A>G	1.37:g.156127886A>G	ENSP00000357268:p.Lys109Arg		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523242	0.64747	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.176866	0.49305	D	0.000143	T	0.13670	0.0331	L	0.37750	1.13	0.32491	N	0.540217	P;P	0.46395	0.577;0.877	B;P	0.46885	0.288;0.53	T	0.07214	-1.0784	10	0.22706	T	0.39	.	13.0635	0.59020	1.0:0.0:0.0:0.0	.	10;109	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	R	109;10;109;109;10;71;71;10;109;109	ENSP00000401391:K109R;ENSP00000399230:K10R;ENSP00000347117:K109R;ENSP00000357268:K109R;ENSP00000357267:K10R;ENSP00000357269:K10R;ENSP00000392865:K109R;ENSP00000357265:K109R	ENSP00000347117:K109R	K	+	2	0	SEMA4A	154394510	1.000000	0.71417	0.708000	0.30435	0.684000	0.39900	7.064000	0.76721	2.104000	0.64026	0.454000	0.30748	AAA		0.517	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		G	156127886	A	G	156127886	3	3	535	1	0	0	0	0	1	0	0	0	14037	14	1	3	336	3	SEMA4A	1	156127886	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	1553640	156127886	93122735	8	28637											
ETV3	2117	broad.mit.edu;hgsc.bcm.edu	37	1	157105442	157105442	+	Silent	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:157105442G>A	ENST00000368192.4	-	3	169	c.105C>T	c.(103-105)atC>atT	p.I35I	ETV3_ENST00000326786.4_Silent_p.I35I|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	35					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I35I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				GCCACAGCTGGATCTGCCGGG	0.522																																																2	Substitution - coding silent(2)	kidney(2)											91	89	90					1																	157105442		2203	4300	6503	SO:0001819	synonymous_variant	2117			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.105C>T	1.37:g.157105442G>A			B4E3M7|Q8TAC8|Q9BX30	Silent	SNP	ENST00000368192.4	37	CCDS44250.1																																																																																				0.522	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		A	157105442	G	A	157105442	2	1	535	1	0	0	0	0	0	0	0	1	5281	1164	41	2		2	ETV3	1	157105442	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	977556	157105442	92145179	9	28638											
ATP1A4	480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160151511	160151511	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:160151511A>T	ENST00000368081.4	+	19	3245	c.2774A>T	c.(2773-2775)cAa>cTa	p.Q925L	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.Q61L	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	925					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.Q925L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCACATGCCAAACGGCCTTT	0.507																																																1	Substitution - Missense(1)	kidney(1)											184	182	183					1																	160151511		2203	4300	6503	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2774A>T	1.37:g.160151511A>T	ENSP00000357060:p.Gln925Leu		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.059237	0.55325	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.96554	-4.05;-4.05	4.17	4.17	0.49024	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.321076	0.33382	N	0.004974	D	0.95130	0.8422	M	0.82193	2.58	0.45930	D	0.998761	B	0.26445	0.149	B	0.36766	0.232	D	0.95897	0.8912	10	0.87932	D	0	.	11.4975	0.50417	1.0:0.0:0.0:0.0	.	925	Q13733	AT1A4_HUMAN	L	925;61	ENSP00000357060:Q925L;ENSP00000433094:Q61L	ENSP00000357060:Q925L	Q	+	2	0	ATP1A4	158418135	1.000000	0.71417	0.901000	0.35422	0.642000	0.38348	9.048000	0.93830	1.875000	0.54330	0.454000	0.30748	CAA		0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		T	160151511	A	T	160151511	3	4	535	1	0	0	0	0	1	0	0	0	1131	130	5	5	2848	5	ATP1A4	1	160151511	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	3046069	160151511	89099110	10	28639											
FAM5B	57795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	177249817	177249817	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:177249817T>C	ENST00000361539.4	+	8	1817	c.1505T>C	c.(1504-1506)tTt>tCt	p.F502S	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	502					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.F502S(1)									CTGGAAAACTTTCTTGGGCTG	0.577																																																1	Substitution - Missense(1)	kidney(1)											31	34	33					1																	177249817		2203	4300	6503	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1505T>C	1.37:g.177249817T>C	ENSP00000354481:p.Phe502Ser		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.667392	0.29604	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.55588	0.51	5.16	3.91	0.45181	.	0.116515	0.64402	D	0.000013	T	0.44726	0.1307	L	0.38175	1.15	0.36004	D	0.837597	B;B	0.33266	0.404;0.037	B;B	0.38755	0.281;0.047	T	0.58819	-0.7569	10	0.87932	D	0	-15.6157	9.1343	0.36863	0.2863:0.0:0.0:0.7137	.	397;502	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	S	255;502	ENSP00000354481:F502S	ENSP00000354481:F502S	F	+	2	0	FAM5B	175516440	1.000000	0.71417	0.993000	0.49108	0.792000	0.44763	4.503000	0.60407	1.943000	0.56356	0.260000	0.18958	TTT		0.577	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		C	177249817	T	C	177249817	3	2	535	1	0	0	0	0	1	0	0	0	5595	1841	64	3	1531	3	FAM5B	1	177249817	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	17098306	177249817	72000804	11	28640											
C1orf14	81626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	182908433	182908433	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:182908433A>C	ENST00000367547.3	-	5	1190	c.954T>G	c.(952-954)atT>atG	p.I318M	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.I199M|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	390								p.I318M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TCTGATACTCAATGAGCTCGA	0.378																																																1	Substitution - Missense(1)	kidney(1)											92	86	88					1																	182908433		2203	4300	6503	SO:0001583	missense	0			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.954T>G	1.37:g.182908433A>C	ENSP00000356518:p.Ile318Met		Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069919	0.55539	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.46063	0.88;0.89	4.97	-3.67	0.04476	.	0.000000	0.56097	D	0.000030	T	0.45155	0.1328	L	0.51422	1.61	0.31402	N	0.676583	D;P;D	0.58620	0.971;0.731;0.983	P;P;P	0.56700	0.641;0.549;0.804	T	0.54596	-0.8270	10	0.54805	T	0.06	-8.7361	11.6033	0.51017	0.417:0.0:0.583:0.0	.	390;199;318	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	M	318;387;199	ENSP00000356518:I318M;ENSP00000397308:I199M	ENSP00000287709:I387M	I	-	3	3	SHCBP1L	181175056	0.494000	0.26043	0.982000	0.44146	0.804000	0.45430	-0.591000	0.05753	-0.695000	0.05105	0.460000	0.39030	ATT		0.378	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		C	182908433	A	C	182908433	3	2	535	1	0	0	0	0	1	0	0	0	2002	126	5	5	1031	5	C1orf14	1	182908433	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	5658616	182908433	66342188	12	28641											
GPATCH2	55105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	217665062	217665062	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:217665062T>C	ENST00000366935.3	-	8	1347	c.1237A>G	c.(1237-1239)Aga>Gga	p.R413G	GPATCH2_ENST00000489246.2_5'UTR|RP11-361K17.2_ENST00000458184.1_RNA	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	413					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.R413G(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TTGTGTCCTCTTTCAGCTCGA	0.313																																																1	Substitution - Missense(1)	kidney(1)											101	102	102					1																	217665062		2203	4300	6503	SO:0001583	missense	55105			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "G patch domain containing"	25499	protein-coding gene	gene with protein product	"cancer/testis antigen 110", "protein phosphatase 1, regulatory subunit 30"			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1237A>G	1.37:g.217665062T>C	ENSP00000355902:p.Arg413Gly		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.732852	0.69189	.	.	ENSG00000092978	ENST00000366935	T	0.36157	1.27	6.03	2.12	0.27331	.	0.045726	0.85682	D	0.000000	T	0.32406	0.0828	L	0.32530	0.975	0.80722	D	1	D	0.56521	0.976	P	0.50109	0.631	T	0.02358	-1.1171	10	0.20519	T	0.43	.	11.9147	0.52759	0.0:0.0:0.4262:0.5738	.	413	Q9NW75	GPTC2_HUMAN	G	413	ENSP00000355902:R413G	ENSP00000355902:R413G	R	-	1	2	GPATCH2	215731685	0.999000	0.42202	0.996000	0.52242	0.997000	0.91878	1.809000	0.38922	0.460000	0.27045	0.533000	0.62120	AGA		0.313	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		C	217665062	T	C	217665062	3	2	535	1	0	0	0	0	1	0	0	0	6593	1617	56	3	361	3	GPATCH2	1	217665062	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	34756629	217665062	31585559	13	28642											
EPHX1	2052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	226027665	226027665	+	Silent	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:226027665G>A	ENST00000366837.4	+	6	1054	c.858G>A	c.(856-858)aaG>aaA	p.K286K	EPHX1_ENST00000272167.5_Silent_p.K286K|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	286					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.K286K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ACCCCGTCAAGGAGAAGGTAT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											158	137	144					1																	226027665		2203	4300	6503	SO:0001819	synonymous_variant	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.858G>A	1.37:g.226027665G>A			B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Silent	SNP	ENST00000366837.4	37	CCDS1547.1																																																																																				0.567	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		A	226027665	G	A	226027665	2	1	535	1	0	0	0	0	0	0	0	1	5181	991	35	2		2	EPHX1	1	226027665	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	8362603	226027665	23222956	14	28643											
RYR2	6262	broad.mit.edu;hgsc.bcm.edu	37	1	237586481	237586481	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:237586481A>T	ENST00000366574.2	+	12	1255	c.938A>T	c.(937-939)aAc>aTc	p.N313I	RYR2_ENST00000360064.6_Missense_Mutation_p.N311I|RYR2_ENST00000542537.1_Missense_Mutation_p.N297I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	313	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.N311I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGACAAAAACCTTCTACTC	0.413																																																1	Substitution - Missense(1)	kidney(1)											128	124	125					1																	237586481		1903	4117	6020	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.938A>T	1.37:g.237586481A>T	ENSP00000355533:p.Asn313Ile		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736449	0.49045	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91011	-2.77;-2.77;-2.77	5.5	-5.59	0.02505	MIR motif (2);MIR (2);	0.569242	0.17221	N	0.182337	T	0.79534	0.4462	N	0.14661	0.345	0.47737	D	0.999507	B	0.21381	0.055	B	0.23150	0.044	T	0.52381	-0.8583	10	0.72032	D	0.01	-4.8077	12.3769	0.55285	0.1613:0.1169:0.7218:0.0	.	313	Q92736	RYR2_HUMAN	I	313;311;297	ENSP00000355533:N313I;ENSP00000353174:N311I;ENSP00000443798:N297I	ENSP00000353174:N311I	N	+	2	0	RYR2	235653104	0.977000	0.34250	0.728000	0.30774	0.995000	0.86356	0.229000	0.17833	-1.387000	0.02095	-0.332000	0.08345	AAC		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		T	237586481	A	T	237586481	3	4	535	1	0	0	0	0	1	0	0	0	13775	43	2	5	984	5	RYR2	1	237586481	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	11558816	237586481	11664140	15	28644											
AHCTF1	25909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247061603	247061603	+	Silent	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr1:247061603G>T	ENST00000391829.2	-	12	1653	c.1530C>A	c.(1528-1530)ctC>ctA	p.L510L	AHCTF1_ENST00000366508.1_Silent_p.L545L|AHCTF1_ENST00000326225.3_Silent_p.L519L|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	510	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L510L(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGAGTTCATTGAGTGATGGAC	0.343																																					Colon(145;197 1800 4745 15099 26333)											1	Substitution - coding silent(1)	kidney(1)											118	117	117					1																	247061603		2203	4300	6503	SO:0001819	synonymous_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1530C>A	1.37:g.247061603G>T			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37																																																																																					0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		T	247061603	G	T	247061603	2	4	535	1	0	0	0	0	0	0	0	1	408	1277	45	4		4	AHCTF1	1	247061603	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	9475122	247061603	2189018	16	28645											
EIF2AK2	5610	broad.mit.edu;ucsc.edu	37	2	37366825	37366825	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:37366825T>G	ENST00000233057.4	-	6	787	c.465A>C	c.(463-465)caA>caC	p.Q155H	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.Q155H|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.Q155H	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	155	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)	p.Q155H(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TAGCGGCCAATTGTTTTGCTT	0.328																																																1	Substitution - Missense(1)	kidney(1)											184	183	183					2																	37366825		2203	4300	6503	SO:0001583	missense	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.465A>C	2.37:g.37366825T>G	ENSP00000233057:p.Gln155His		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365974	0.24684	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.79033	-1.23;-1.23;-1.23	5.38	-10.8	0.00216	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.434976	0.19684	N	0.108458	T	0.72510	0.3469	M	0.68593	2.085	0.23628	N	0.997258	P;P;P;P	0.47191	0.891;0.891;0.891;0.817	B;P;P;B	0.47075	0.356;0.536;0.536;0.343	T	0.80139	-0.1507	10	0.59425	D	0.04	-13.9269	12.4479	0.55662	0.195:0.611:0.0:0.194	.	155;155;155;155	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	H	155	ENSP00000233057:Q155H;ENSP00000378559:Q155H;ENSP00000385014:Q155H	ENSP00000233057:Q155H	Q	-	3	2	EIF2AK2	37220329	0.000000	0.05858	0.003000	0.11579	0.109000	0.19521	-3.093000	0.00608	-3.656000	0.00125	-1.279000	0.01387	CAA		0.328	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		G	37366825	T	G	37366825	3	3	535	1	0	0	0	0	1	0	0	0	4999	1490	52	5	1238	5	EIF2AK2	2	37366825	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08		37366825	205832548	17	28646											
ELMOD3	84173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	85598666	85598666	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:85598666G>T	ENST00000409890.2	+	10	1255	c.588G>T	c.(586-588)tgG>tgT	p.W196C	ELMOD3_ENST00000409013.3_Missense_Mutation_p.W196C|ELMOD3_ENST00000428955.2_Missense_Mutation_p.W196C|ELMOD3_ENST00000490508.1_3'UTR|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000393852.4_Missense_Mutation_p.W196C|ELMOD3_ENST00000315658.7_Missense_Mutation_p.W196C|RN7SL113P_ENST00000497900.2_RNA|ELMOD3_ENST00000409344.3_Missense_Mutation_p.W196C			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	196	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.W196C(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GAAACCACTGGGAGGACCTGG	0.537																																																2	Substitution - Missense(2)	kidney(2)											104	107	106					2																	85598666		2203	4300	6503	SO:0001583	missense	84173			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"RNA binding motif (RRM) containing"	26158	protein-coding gene	gene with protein product		615427	"RNA binding motif protein 29", "RNA binding motif and ELMO/CED-12 domain 1", "deafness, autosomal recessive 88"	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.588G>T	2.37:g.85598666G>T	ENSP00000386304:p.Trp196Cys		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465807	0.84425	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	6.07	6.07	0.98685	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.81964	0.4934	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84920	0.0853	10	0.87932	D	0	-15.4933	18.1378	0.89627	0.0:0.0:1.0:0.0	.	196;196	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	C	196	ENSP00000386257:W196C;ENSP00000387139:W196C;ENSP00000386304:W196C;ENSP00000386248:W196C;ENSP00000377434:W196C;ENSP00000412692:W196C;ENSP00000318264:W196C	ENSP00000318264:W196C	W	+	3	0	ELMOD3	85452177	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.896000	0.92521	2.884000	0.98904	0.655000	0.94253	TGG		0.537	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		T	85598666	G	T	85598666	3	4	535	1	0	0	0	0	1	0	0	0	5072	1241	43	4	614	4	ELMOD3	2	85598666	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	48231841	85598666	157600707	18	28647											
ARID5A	10865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	97217964	97217964	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:97217964C>A	ENST00000357485.3	+	7	1777	c.1699C>A	c.(1699-1701)Ctt>Att	p.L567I	ARID5A_ENST00000454558.2_Missense_Mutation_p.L499I	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	567					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L567I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCGCCACAGACTTTGCCCGGC	0.657																																																1	Substitution - Missense(1)	kidney(1)											87	82	84					2																	97217964		2203	4300	6503	SO:0001583	missense	10865			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1699C>A	2.37:g.97217964C>A	ENSP00000350078:p.Leu567Ile		Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106470	0.56291	.	.	ENSG00000196843	ENST00000357485;ENST00000454558	T	0.71461	-0.57	4.65	4.65	0.58169	.	0.000000	0.45126	D	0.000394	T	0.68988	0.3061	L	0.55103	1.725	0.30626	N	0.75801	P;P	0.52692	0.955;0.935	P;B	0.46362	0.514;0.396	T	0.72023	-0.4415	10	0.44086	T	0.13	.	13.2126	0.59834	0.0:1.0:0.0:0.0	.	499;567	C9J1Q0;Q03989	.;ARI5A_HUMAN	I	567;499	ENSP00000350078:L567I	ENSP00000350078:L567I	L	+	1	0	ARID5A	96581691	0.533000	0.26354	0.996000	0.52242	0.976000	0.68499	0.531000	0.23052	2.572000	0.86782	0.555000	0.69702	CTT		0.657	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		A	97217964	C	A	97217964	3	1	535	1	0	0	0	0	1	0	0	0	921	565	20	4	1725	4	ARID5A	2	97217964	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	11619298	97217964	145981409	19	28648											
ST6GAL2	84620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	107460175	107460175	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:107460175C>T	ENST00000409382.3	-	2	869	c.259G>A	c.(259-261)Ggt>Agt	p.G87S	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G87S|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G87S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	87					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.G87S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGAAAGGAACCGGCTGGGTGG	0.642																																																1	Substitution - Missense(1)	kidney(1)											25	31	29					2																	107460175		2164	4246	6410	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.259G>A	2.37:g.107460175C>T	ENSP00000386942:p.Gly87Ser		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377020	0.24857	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.29917	2.57;2.57;1.55	5.24	0.00909	0.14077	.	1.550760	0.03353	N	0.196434	T	0.25269	0.0614	L	0.38175	1.15	0.09310	N	1	B;B	0.23891	0.093;0.031	B;B	0.14578	0.011;0.005	T	0.18272	-1.0342	10	0.34782	T	0.22	-0.5611	7.842	0.29403	0.0:0.608:0.1102:0.2818	.	87;87	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	S	87	ENSP00000355273:G87S;ENSP00000386942:G87S;ENSP00000387332:G87S	ENSP00000355273:G87S	G	-	1	0	ST6GAL2	106826607	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.091000	0.30915	-0.648000	0.05437	-1.119000	0.02030	GGT		0.642	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		T	107460175	C	T	107460175	3	4	535	1	0	0	0	0	1	0	0	0	15227	652	23	1	1437	1	ST6GAL2	2	107460175	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	10242211	107460175	135739198	20	28649											
PTPN18	26469	hgsc.bcm.edu;ucsc.edu	37	2	131128292	131128292	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:131128292delC	ENST00000175756.5	+	10	872	c.771delC	c.(769-771)gacfs	p.D257fs	PTPN18_ENST00000347849.3_Frame_Shift_Del_p.D150fs	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	257	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TCCCACCTGACTTCAGTCTCT	0.572																																																0													136	117	123					2																	131128292		2203	4300	6503	SO:0001589	frameshift_variant	26469			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.771delC	2.37:g.131128292delC	ENSP00000175756:p.Asp257fs		B4E1E6|Q53P42	Frame_Shift_Del	DEL	ENST00000175756.5	37	CCDS2161.1																																																																																				0.572	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			-	131128292	C	-	131128292	7	5	535	1	0	1	0	1	0	0	0	0	12790	564	20	0	809	0	PTPN18	2	131128292	Frame_Shift_Del	DEL	C	TCGA-CJ-4920-01A-01D-1429-08	23668117	131128292	112071081	21	28650											
FAM123C	205147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	131521736	131521736	+	Silent	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:131521736A>T	ENST00000423981.1	+	2	2201	c.2091A>T	c.(2089-2091)ccA>ccT	p.P697P	AMER3_ENST00000321420.4_Silent_p.P697P	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	697					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P697P(1)									CATGGCCTCCAAGGCAAGACA	0.642																																																1	Substitution - coding silent(1)	kidney(1)											24	24	24					2																	131521736		2201	4299	6500	SO:0001819	synonymous_variant	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2091A>T	2.37:g.131521736A>T			B7ZLH6	Silent	SNP	ENST00000423981.1	37	CCDS2164.1																																																																																				0.642	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		T	131521736	A	T	131521736	2	4	535	1	0	0	0	0	0	0	0	1	5426	117	5	5		5	FAM123C	2	131521736	Silent	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	393444	131521736	111677637	22	28651											
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170103247	170103247	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:170103247T>A	ENST00000263816.3	-	21	3443	c.3158A>T	c.(3157-3159)gAt>gTt	p.D1053V	LRP2_ENST00000443831.1_Missense_Mutation_p.D916V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1053	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D1053V(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATCACTGTTATCATGACAATC	0.428																																																1	Substitution - Missense(1)	kidney(1)											226	217	220					2																	170103247		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3158A>T	2.37:g.170103247T>A	ENSP00000263816:p.Asp1053Val		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117882	0.77323	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.97665	-4.48;-4.48	5.9	5.9	0.94986	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	H	0.98965	4.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98805	1.0741	10	0.87932	D	0	.	16.3245	0.82970	0.0:0.0:0.0:1.0	.	916;1053	E9PC35;P98164	.;LRP2_HUMAN	V	1053;916	ENSP00000263816:D1053V;ENSP00000409813:D916V	ENSP00000263816:D1053V	D	-	2	0	LRP2	169811493	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	7.740000	0.84986	2.254000	0.74563	0.460000	0.39030	GAT		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170103247	T	A	170103247	3	1	535	1	0	0	0	0	1	0	0	0	8958	1435	50	5	11045	5	LRP2	2	170103247	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	38581511	170103247	73096126	23	28652											
ZAK	51776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	174131419	174131419	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:174131419delC	ENST00000375213.3	+	20	2422	c.2344delC	c.(2344-2346)cccfs	p.P782fs	MLTK_ENST00000409176.2_Frame_Shift_Del_p.P782fs|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		782					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAGGCCATCTCCCGCCAAAAC	0.483																																																0													19	23	22					2																	174131419		1870	4112	5982	SO:0001589	frameshift_variant	51776																														ENST00000375213.3:c.2344delC	2.37:g.174131419delC	ENSP00000364361:p.Pro782fs		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Frame_Shift_Del	DEL	ENST00000375213.3	37	CCDS42777.1																																																																																				0.483	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			-	174131419	C	-	174131419	7	5	535	1	0	1	0	1	0	0	0	0	17517	855	30	0	2803	0	ZAK	2	174131419	Frame_Shift_Del	DEL	C	TCGA-CJ-4920-01A-01D-1429-08	4028172	174131419	69067954	24	28653											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179490104	179490104	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:179490104C>T	ENST00000591111.1	-	191	39745	c.39521G>A	c.(39520-39522)gGa>gAa	p.G13174E	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5875E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G5942E|TTN_ENST00000342992.6_Missense_Mutation_p.G12247E|TTN_ENST00000460472.2_Missense_Mutation_p.G5750E|TTN_ENST00000589042.1_Missense_Mutation_p.G14815E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13174	Ig-like 87.				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)	p.G12247E(2)|p.G5875E(1)|p.G5750E(1)|p.G5942E(1)		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)			ATGAACTTTTCCTTCTGAACG	0.353																																																5	Substitution - Missense(5)	kidney(5)											203	193	196					2																	179490104		1831	4072	5903	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39521G>A	2.37:g.179490104C>T	ENSP00000465570:p.Gly13174Glu		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.60	2.880766	0.51801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.95	5.95	0.96441	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77096	0.4080	M	0.91038	3.17	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.72075	0.956;0.956;0.956;0.976	T	0.81095	-0.1088	9	0.87932	D	0	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	5750;5875;5942;13174	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	12247;5750;5942;5875;5750	ENSP00000343764:G12247E;ENSP00000434586:G5750E;ENSP00000340554:G5942E;ENSP00000352154:G5875E	ENSP00000340554:G5942E	G	-	2	0	TTN	179198349	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.690000	0.68241	2.821000	0.97095	0.650000	0.86243	GGA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179490104	C	T	179490104	3	4	535	1	0	0	0	0	1	0	0	0	16740	855	30	2	63737	2	TTN	2	179490104	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	5358685	179490104	63709269	25	28654											
MARS2	92935	hgsc.bcm.edu	37	2	198570416	198570416	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:198570416G>C	ENST00000282276.6	+	1	330	c.287G>C	c.(286-288)gGg>gCg	p.G96A	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	96					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.G96A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GACGAGCACGGGCTGAAGATT	0.672																																																1	Substitution - Missense(1)	kidney(1)											20	23	22					2																	198570416		2203	4297	6500	SO:0001583	missense	92935			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.287G>C	2.37:g.198570416G>C	ENSP00000282276:p.Gly96Ala		A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808177	0.90707	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.80738	-1.41	5.78	5.78	0.91487	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.92509	0.7621	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93930	0.7213	10	0.87932	D	0	-19.583	17.5058	0.87745	0.0:0.0:1.0:0.0	.	96	Q96GW9	SYMM_HUMAN	A	96	ENSP00000282276:G96A	ENSP00000282276:G96A	G	+	2	0	MARS2	198278661	1.000000	0.71417	0.997000	0.53966	0.789000	0.44602	9.472000	0.97709	2.706000	0.92434	0.655000	0.94253	GGG		0.672	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		C	198570416	G	C	198570416	3	2	535	1	0	0	0	0	1	0	0	0	9319	1232	43	4	289	4	MARS2	2	198570416	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	19080312	198570416	44628957	26	28655											
CRYGB	1419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	209007637	209007637	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:209007637G>T	ENST00000260988.4	-	3	300	c.253C>A	c.(253-255)Cac>Aac	p.H85N		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	85	Connecting peptide.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.H85N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GCGCCAGAGTGCTGGAGTGGC	0.483																																																1	Substitution - Missense(1)	kidney(1)											98	102	100					2																	209007637		2203	4300	6503	SO:0001630	splice_region_variant	1419				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"crystallin, gamma 1-2"	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.253-1C>A	2.37:g.209007637G>T			Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	G	8.329	0.825963	0.16749	.	.	ENSG00000182187	ENST00000260988	T	0.74947	-0.89	4.64	4.64	0.57946	Beta/gamma crystallin (1);Gamma-crystallin-related (1);	0.553797	0.13883	U	0.356205	T	0.71567	0.3355	M	0.71206	2.165	0.45541	D	0.998495	B	0.26483	0.15	B	0.24848	0.056	T	0.71334	-0.4624	10	0.54805	T	0.06	.	8.8639	0.35274	0.1005:0.0:0.8995:0.0	.	85	P07316	CRGB_HUMAN	N	85	ENSP00000260988:H85N	ENSP00000260988:H85N	H	-	1	0	CRYGB	208715882	1.000000	0.71417	0.992000	0.48379	0.135000	0.20990	0.920000	0.28705	2.567000	0.86603	0.561000	0.74099	CAC		0.483	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210	Missense_Mutation	T	209007637	G	T	209007637	5	4	535	1	0	0	0	0	0	0	1	0	3917	1333	46	4	278	4	CRYGB	2	209007637	Splice_Site	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	10437221	209007637	34191736	27	28656											
HJURP	55355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234754423	234754423	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:234754423T>A	ENST00000411486.2	-	6	511	c.446A>T	c.(445-447)aAa>aTa	p.K149I	HJURP_ENST00000432087.1_Missense_Mutation_p.K95I|HJURP_ENST00000441687.1_Intron|HJURP_ENST00000434039.1_5'UTR	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	149					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.K149I(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGTCAAGTATTTCCTTCTTAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											114	119	117					2																	234754423		2203	4300	6503	SO:0001583	missense	55355				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.446A>T	2.37:g.234754423T>A	ENSP00000414109:p.Lys149Ile		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472585	0.63737	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000454020	T;T;T	0.52983	2.35;2.38;0.64	4.06	2.87	0.33458	.	0.000000	0.52532	D	0.000074	T	0.56630	0.1998	L	0.59436	1.845	0.80722	D	1	D;D	0.65815	0.995;0.991	D;P	0.63113	0.911;0.818	T	0.57093	-0.7870	10	0.87932	D	0	-30.3028	6.8074	0.23784	0.2072:0.0:0.0:0.7928	.	95;149	Q8NCD3-2;Q8NCD3	.;HJURP_HUMAN	I	149;95;108	ENSP00000414109:K149I;ENSP00000407208:K95I;ENSP00000414051:K108I	ENSP00000414109:K149I	K	-	2	0	HJURP	234419162	0.953000	0.32496	0.859000	0.33776	0.982000	0.71751	1.721000	0.38032	0.872000	0.35775	0.460000	0.39030	AAA		0.343	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		A	234754423	T	A	234754423	3	1	535	1	0	0	0	0	1	0	0	0	7191	1841	64	5	1816	5	HJURP	2	234754423	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	25746786	234754423	8444950	28	28657											
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238280464	238280464	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr2:238280464C>A	ENST00000295550.4	-	9	4648	c.4196G>T	c.(4195-4197)aGc>aTc	p.S1399I	COL6A3_ENST00000392003.2_Missense_Mutation_p.S992I|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1193I|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1193I|COL6A3_ENST00000392004.3_Missense_Mutation_p.S1193I|COL6A3_ENST00000472056.1_Missense_Mutation_p.S792I|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1199I|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1198I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1399	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S1399I(1)|p.S1193I(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCTCCAGGCTGGGCAGCTC	0.597																																																2	Substitution - Missense(2)	kidney(2)											77	76	77					2																	238280464		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4196G>T	2.37:g.238280464C>A	ENSP00000295550:p.Ser1399Ile		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594257	0.66219	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.64	4.75	0.60458	von Willebrand factor, type A (3);	0.175198	0.40469	N	0.001092	D	0.89674	0.6783	M	0.72576	2.205	0.31304	N	0.687901	D;P;P;D;P	0.71674	0.998;0.828;0.915;0.995;0.655	D;P;P;D;B	0.72625	0.978;0.756;0.756;0.948;0.327	D	0.89221	0.3571	10	0.39692	T	0.17	.	15.235	0.73422	0.0:0.6039:0.3961:0.0	.	792;992;1193;1193;1399	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	I	1399;1198;1193;792;1193;1199;1193;992	ENSP00000295550:S1399I;ENSP00000315609:S1198I;ENSP00000315873:S1193I;ENSP00000418285:S792I;ENSP00000386844:S1193I;ENSP00000295546:S1199I;ENSP00000375861:S1193I;ENSP00000375860:S992I	ENSP00000295550:S1399I	S	-	2	0	COL6A3	237945203	0.116000	0.22171	1.000000	0.80357	0.861000	0.49209	1.505000	0.35736	1.345000	0.45676	0.650000	0.86243	AGC		0.597	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		A	238280464	C	A	238280464	3	1	535	1	0	0	0	0	1	0	0	0	3703	797	28	4	5528	4	COL6A3	2	238280464	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	3526041	238280464	4918909	29	28658											
OGG1	4968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9792055	9792055	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:9792055C>A	ENST00000344629.7	+	1	428	c.85C>A	c.(85-87)Cct>Act	p.P29T	OGG1_ENST00000349503.5_Missense_Mutation_p.P29T|OGG1_ENST00000436092.1_3'UTR|OGG1_ENST00000339511.5_Missense_Mutation_p.P29T|OGG1_ENST00000449570.2_Missense_Mutation_p.P29T|OGG1_ENST00000302008.8_Missense_Mutation_p.P29T|OGG1_ENST00000383826.5_Missense_Mutation_p.P29T|OGG1_ENST00000302003.7_Missense_Mutation_p.P29T|OGG1_ENST00000302036.7_Missense_Mutation_p.P29T			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	29					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)	p.P29T(4)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CATCCCGTGCCCTCGCTCTGA	0.652								Base excision repair (BER), DNA glycosylases																																								4	Substitution - Missense(4)	kidney(4)											58	52	54					3																	9792055		2203	4300	6503	SO:0001583	missense	4968			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.85C>A	3.37:g.9792055C>A	ENSP00000342851:p.Pro29Thr		A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.506195|2.506195	0.44558|0.44558	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000441094|ENST00000302003;ENST00000344629;ENST00000302036;ENST00000349503;ENST00000339511;ENST00000449570;ENST00000302008;ENST00000383826	.|T;T;T;T;T;T;T;T	.|0.54866	.|0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.85|5.85	4.98|4.98	0.66077|0.66077	.|8-oxoguanine DNA glycosylase, N-terminal (1);Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);	0.433678|0.433678	0.28927|0.28927	N|N	0.013696|0.013696	T|T	0.42944|0.42944	0.1225|0.1225	L|L	0.37507|0.37507	1.11|1.11	0.35662|0.35662	D|D	0.812653|0.812653	.|B;B;B;B;B;B;B;B	.|0.33073	.|0.009;0.396;0.063;0.007;0.007;0.023;0.002;0.013	.|B;B;B;B;B;B;B;B	.|0.28139	.|0.008;0.086;0.025;0.025;0.026;0.025;0.014;0.009	T|T	0.55528|0.55528	-0.8127|-0.8127	6|10	.|0.52906	.|T	.|0.07	-1.5595|-1.5595	14.4973|14.4973	0.67698|0.67698	0.0:0.9288:0.0:0.0712|0.0:0.9288:0.0:0.0712	.|.	.|29;29;29;29;29;29;29;29	.|E5KPM8;E5KPM6;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2	.|.;.;.;.;.;.;OGG1_HUMAN;.	H|T	9|29	.|ENSP00000305584:P29T;ENSP00000342851:P29T;ENSP00000306561:P29T;ENSP00000303132:P29T;ENSP00000345520:P29T;ENSP00000403598:P29T;ENSP00000305527:P29T;ENSP00000373337:P29T	.|ENSP00000305584:P29T	P|P	+|+	2|1	0|0	OGG1|OGG1	9767055|9767055	0.971000|0.971000	0.33674|0.33674	1.000000|1.000000	0.80357|0.80357	0.403000|0.403000	0.30841|0.30841	1.078000|1.078000	0.30754|0.30754	1.467000|1.467000	0.48044|0.48044	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.652	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		A	9792055	C	A	9792055	3	1	535	1	0	0	0	0	1	0	0	0	10847	623	22	4	87	4	OGG1	3	9792055	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08		9792055	188230375	30	28659											
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Missense_Mutation	SNP	C	C	T	rs5030826		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:10183725C>T	ENST00000256474.2	+	1	1034	c.194C>T	c.(193-195)tCg>tTg	p.S65L	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.S65L	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7	11	9					3																	10183725		2133	4211	6344	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>T	3.37:g.10183725C>T	ENSP00000256474:p.Ser65Leu		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343095	0.82022	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99832	-7.02;-7.02	5.54	4.67	0.58626	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.055860	0.85682	N	0.000000	D	0.99306	0.9757	M	0.83774	2.66	0.33373	D	0.573818	P;P	0.49961	0.93;0.815	B;B	0.35899	0.213;0.209	D	0.99620	1.0983	10	0.87932	D	0	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	.	65;65	P40337-2;P40337	.;VHL_HUMAN	L	65	ENSP00000256474:S65L;ENSP00000344757:S65L	ENSP00000256474:S65L	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183725	C	T	10183725	3	4	535	1	0	0	0	0	1	0	0	0	17167	893	31	1	196	1	VHL	3	10183725	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	391670	10183725	187838705	31	28660											
SCN11A	11280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38962724	38962724	+	Silent	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:38962724G>T	ENST00000302328.3	-	6	933	c.735C>A	c.(733-735)gcC>gcA	p.A245A	SCN11A_ENST00000444237.2_Silent_p.A245A|SCN11A_ENST00000456224.3_Silent_p.A245A|SCN11A_ENST00000450244.1_Silent_p.A245A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	245					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A245A(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCGTAGCAAGGCCCCCACGA	0.542																																																1	Substitution - coding silent(1)	kidney(1)											102	99	100					3																	38962724		2203	4300	6503	SO:0001819	synonymous_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.735C>A	3.37:g.38962724G>T			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	CCDS33737.1																																																																																				0.542	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		T	38962724	G	T	38962724	2	4	535	1	0	0	0	0	0	0	0	1	13919	987	35	4		4	SCN11A	3	38962724	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	28778999	38962724	159059706	32	28661											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52651349	52651353	+	Frame_Shift_Del	DEL	CACCA	CACCA	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	CACCA	CACCA	CACCA	-	CACCA	CACCA	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:52651349_52651353delCACCA	ENST00000296302.7	-	14	1744_1748	c.1743_1747delTGGTG	c.(1741-1749)gctggtgaafs	p.GE582fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.GE597fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.GE582fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.GE582fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.GE582fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.GE550fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.GE597fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.GE582fs			Q86U86	PB1_HUMAN	polybromo 1	582	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTCCCTCTTCACCAGCATATTTGT	0.434			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1743_1747delTGGTG	3.37:g.52651349_52651353delCACCA	ENSP00000296302:p.Gly582fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.434	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52651353	CACCA	-	52651349	7	5	535	1	0	1	0	1	0	0	0	0	11493	835	29	0	3221	0	PBRM1	3	52651349	Frame_Shift_Del	DEL	CACCA	TCGA-CJ-4920-01A-01D-1429-08	13688625	52651349	145371081	33	28662											
FAM19A4	151647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	68788346	68788346	+	Silent	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:68788346G>C	ENST00000295569.7	-	5	783	c.291C>G	c.(289-291)tcC>tcG	p.S97S		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	97						extracellular region (GO:0005576)		p.S97S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		GAATCACAATGGAAGCTGGAA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											139	123	128					3																	68788346		2203	4300	6503	SO:0001819	synonymous_variant	151647			AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.291C>G	3.37:g.68788346G>C			A8MVT2	Silent	SNP	ENST00000295569.7	37	CCDS2907.1																																																																																				0.408	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1	NM_182522		C	68788346	G	C	68788346	2	2	535	1	0	0	0	0	0	0	0	1	5536	1335	47	4		4	FAM19A4	3	68788346	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	16136997	68788346	129234084	34	28663											
DPPA2	151871	hgsc.bcm.edu;ucsc.edu	37	3	109031497	109031503	+	Frame_Shift_Del	DEL	AAATCAC	AAATCAC	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	AAATCAC	AAATCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:109031497_109031503delAAATCAC	ENST00000478945.1	-	3	316_322	c.70_76delGTGATTT	c.(70-78)gtgattttgfs	p.VIL24fs		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	24					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCAGTGTCAAAATCACACTTTCCTCA	0.396																																																0																																										SO:0001589	frameshift_variant	151871			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.70_76delGTGATTT	3.37:g.109031497_109031503delAAATCAC	ENSP00000417710:p.Val24fs		Q8WVF0	Frame_Shift_Del	DEL	ENST00000478945.1	37	CCDS2956.1																																																																																				0.396	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		-	109031503	AAATCAC	-	109031497	7	5	535	1	0	1	0	1	0	0	0	0	4736	11	1	0	844	0	DPPA2	3	109031497	Frame_Shift_Del	DEL	AAATCAC	TCGA-CJ-4920-01A-01D-1429-08	40243151	109031497	88990933	35	28664											
POLQ	10721	broad.mit.edu	37	3	121263752	121263752	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:121263752T>C	ENST00000264233.5	-	2	293	c.165A>G	c.(163-165)ggA>ggG	p.G55G		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	55					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.G188G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTTGCATTCTCCTTTTAGGA	0.358								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											1	Substitution - coding silent(1)	kidney(1)											63	61	61					3																	121263752		2203	4300	6503	SO:0001630	splice_region_variant	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.164-1A>G	3.37:g.121263752T>C			O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	CCDS33833.1																																																																																				0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	Silent	C	121263752	T	C	121263752	5	2	535	1	0	0	0	0	0	0	1	0	12210	1565	54	3	7723	3	POLQ	3	121263752	Splice_Site	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	12232255	121263752	76758678	36	28665											
UROC1	131669	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	126216954	126216954	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:126216954C>T	ENST00000290868.2	-	14	1431	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	UROC1_ENST00000383579.3_Missense_Mutation_p.D520N	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	460					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.D460N(1)|p.D520N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACCGCCAGGTCCTGGGGGTCC	0.642																																																2	Substitution - Missense(2)	kidney(2)											131	141	138					3																	126216954		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1378G>A	3.37:g.126216954C>T	ENSP00000290868:p.Asp460Asn		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496782	0.64186	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.66280	-0.2;-0.2	4.4	4.4	0.53042	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91403	0.5145	10	0.87932	D	0	-6.8169	14.4925	0.67660	0.0:1.0:0.0:0.0	.	520;460	E9PE13;Q96N76	.;HUTU_HUMAN	N	460;520	ENSP00000290868:D460N;ENSP00000373073:D520N	ENSP00000290868:D460N	D	-	1	0	UROC1	127699644	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	7.286000	0.78671	2.013000	0.59113	0.491000	0.48974	GAC		0.642	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		T	126216954	C	T	126216954	3	4	535	1	0	0	0	0	1	0	0	0	17033	855	30	2	680	2	UROC1	3	126216954	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	4953202	126216954	71805476	37	28666											
MFN1	55669	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	179096586	179096586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:179096586C>A	ENST00000471841.1	+	14	1772	c.1646C>A	c.(1645-1647)tCa>tAa	p.S549*	MFN1_ENST00000280653.7_Intron|MFN1_ENST00000263969.5_Nonsense_Mutation_p.S549*	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	549					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S549*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTAGGATTATCAGAGCCTATC	0.358																																																1	Substitution - Nonsense(1)	kidney(1)											81	80	80					3																	179096586		2196	4299	6495	SO:0001587	stop_gained	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1646C>A	3.37:g.179096586C>A	ENSP00000420617:p.Ser549*		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Nonsense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585641	0.96578	.	.	ENSG00000171109	ENST00000471841;ENST00000263969	.	.	.	5.16	5.16	0.70880	.	0.411976	0.23951	N	0.042944	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2998	18.6527	0.91437	0.0:1.0:0.0:0.0	.	.	.	.	X	549	.	ENSP00000263969:S549X	S	+	2	0	MFN1	180579280	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.038000	0.57318	2.405000	0.81733	0.591000	0.81541	TCA		0.358	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		A	179096586	C	A	179096586	4	1	535	1	0	0	0	0	0	1	0	0	9525	838	29	4	1696	4	MFN1	3	179096586	Nonsense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	52879632	179096586	18925844	38	28667											
MCCC1	56922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	182759359	182759359	+	Silent	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:182759359C>G	ENST00000265594.4	-	11	1409	c.1263G>C	c.(1261-1263)cgG>cgC	p.R421R	MCCC1_ENST00000539926.1_Silent_p.R286R|MCCC1_ENST00000492597.1_Silent_p.R312R	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	421	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.R421R(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTTTACCTTGCCGTACTCCAG	0.418																																																1	Substitution - coding silent(1)	kidney(1)											85	86	86					3																	182759359		2203	4300	6503	SO:0001819	synonymous_variant	56922			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1263G>C	3.37:g.182759359C>G			Q59ES4|Q9H959|Q9NS97	Silent	SNP	ENST00000265594.4	37	CCDS3241.1																																																																																				0.418	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		G	182759359	C	G	182759359	2	3	535	1	0	0	0	0	0	0	0	1	9376	726	26	4		4	MCCC1	3	182759359	Silent	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	3662773	182759359	15263071	39	28668											
EIF4G1	1981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184049812	184049812	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:184049812A>G	ENST00000346169.2	+	32	4827	c.4556A>G	c.(4555-4557)cAg>cGg	p.Q1519R	EIF4G1_ENST00000382330.3_Missense_Mutation_p.Q1526R|EIF4G1_ENST00000350481.5_Missense_Mutation_p.Q1355R|EIF4G1_ENST00000427845.1_Missense_Mutation_p.Q1433R|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.Q1519R|EIF4G1_ENST00000424196.1_Missense_Mutation_p.Q1526R|EIF4G1_ENST00000434061.2_Missense_Mutation_p.Q1324R|EIF4G1_ENST00000435046.2_Missense_Mutation_p.Q1323R|EIF4G1_ENST00000352767.3_Missense_Mutation_p.Q1526R|EIF4G1_ENST00000411531.1_Missense_Mutation_p.Q1480R|EIF4G1_ENST00000392537.2_Missense_Mutation_p.Q1432R|EIF4G1_ENST00000342981.4_Missense_Mutation_p.Q1520R|EIF4G1_ENST00000441154.1_Missense_Mutation_p.Q1356R|EIF4G1_ENST00000414031.1_Missense_Mutation_p.Q1479R	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1519	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.Q1519R(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTGACGAGCAGAAGGAGCTA	0.587																																																1	Substitution - Missense(1)	kidney(1)											64	61	62					3																	184049812		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4556A>G	3.37:g.184049812A>G	ENSP00000316879:p.Gln1519Arg		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.268242	0.40095	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	4.78	4.78	0.61160	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.468555	0.23189	N	0.050929	T	0.74921	0.3780	N	0.19112	0.55	0.45806	D	0.998683	B;B;B	0.28350	0.208;0.208;0.208	B;B;B	0.37650	0.255;0.15;0.15	T	0.72766	-0.4194	10	0.42905	T	0.14	-11.1912	10.2424	0.43321	0.8335:0.1664:0.0:0.0	.	1526;1520;1519	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	R	1519;1479;1432;1526;1355;1526;1433;1520;1519;1526;1480;1356;1324;1323	ENSP00000316879:Q1519R;ENSP00000391935:Q1479R;ENSP00000376320:Q1432R;ENSP00000371767:Q1526R;ENSP00000317600:Q1355R;ENSP00000338020:Q1526R;ENSP00000407682:Q1433R;ENSP00000343450:Q1520R;ENSP00000323737:Q1519R;ENSP00000416255:Q1526R;ENSP00000395974:Q1480R;ENSP00000399858:Q1356R;ENSP00000411826:Q1324R;ENSP00000404754:Q1323R	ENSP00000323737:Q1519R	Q	+	2	0	EIF4G1	185532506	1.000000	0.71417	0.999000	0.59377	0.582000	0.36321	4.607000	0.61133	1.790000	0.52503	0.369000	0.22263	CAG		0.587	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		G	184049812	A	G	184049812	3	3	535	1	0	0	0	0	1	0	0	0	5038	188	7	3	4674	3	EIF4G1	3	184049812	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	1290453	184049812	13972618	40	28669											
OSTalpha	200931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	195954575	195954575	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr3:195954575G>A	ENST00000296327.5	+	4	538	c.329G>A	c.(328-330)cGt>cAt	p.R110H		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	110					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.R110H(1)								Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGGATCCCTCGTTCCCTGGTG	0.652																																																1	Substitution - Missense(1)	kidney(1)											255	191	213					3																	195954575		2203	4300	6503	SO:0001583	missense	0				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.329G>A	3.37:g.195954575G>A	ENSP00000296327:p.Arg110His		Q6ZMC7	Missense_Mutation	SNP	ENST00000296327.5	37	CCDS3314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.850134|4.850134	0.91277|0.91277	.|.	.|.	ENSG00000163959|ENSG00000163959	ENST00000296327|ENST00000428985	T|.	0.43688|.	0.94|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.48286|.	D|.	0.000200|.	T|T	0.77611|0.77611	0.4156|0.4156	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.65773|.	0.938|.	T|T	0.77490|0.77490	-0.2568|-0.2568	10|5	0.62326|.	D|.	0.03|.	.|.	18.1615|18.1615	0.89709|0.89709	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	110|.	Q86UW1|.	OSTA_HUMAN|.	H|I	110|123	ENSP00000296327:R110H|.	ENSP00000296327:R110H|.	R|V	+|+	2|1	0|0	AC069257.9|AC069257.9	197438972|197438972	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.947000|0.947000	0.59692|0.59692	6.137000|6.137000	0.71710|0.71710	2.768000|2.768000	0.95171|0.95171	0.609000|0.609000	0.83330|0.83330	CGT|GTT		0.652	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		A	195954575	G	A	195954575	3	1	535	1	0	0	0	0	1	0	0	0	11302	1145	40	1	343	1	OSTalpha	3	195954575	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	11904763	195954575	2067855	41	28670											
MFSD7	84179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	677418	677418	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:677418C>T	ENST00000404286.2	-	7	991	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	MFSD7_ENST00000513740.1_5'Flank|MFSD7_ENST00000515118.1_Missense_Mutation_p.A229T|MFSD7_ENST00000347950.5_Missense_Mutation_p.A207T|MFSD7_ENST00000503156.1_Missense_Mutation_p.A261T|MFSD7_ENST00000322224.4_Missense_Mutation_p.A325T	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	326					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.A325T(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GGCACGCAGGCCAGAGAGAAC	0.657																																																1	Substitution - Missense(1)	kidney(1)											47	48	48					4																	677418		2202	4298	6500	SO:0001583	missense	84179			AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.976G>A	4.37:g.677418C>T	ENSP00000384616:p.Ala326Thr		A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37		.	.	.	.	.	.	.	.	.	.	C	10.45	1.352830	0.24512	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000512249	T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19	4.82	3.71	0.42584	Major facilitator superfamily domain, general substrate transporter (1);	0.382984	0.28241	N	0.016066	T	0.36799	0.0980	L	0.28608	0.87	0.23445	N	0.997662	B;P;P;B;B	0.36010	0.08;0.532;0.532;0.099;0.162	B;B;B;B;B	0.30943	0.081;0.122;0.122;0.085;0.037	T	0.13202	-1.0518	10	0.20519	T	0.43	-11.5748	6.7384	0.23422	0.0:0.8274:0.0:0.1726	.	261;229;207;326;325	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	T	207;325;326;229;261;143	ENSP00000307545:A207T;ENSP00000320234:A325T;ENSP00000384616:A326T;ENSP00000423204:A229T;ENSP00000425753:A261T;ENSP00000425038:A143T	ENSP00000320234:A325T	A	-	1	0	MFSD7	667418	1.000000	0.71417	0.961000	0.40146	0.190000	0.23558	2.144000	0.42197	0.928000	0.37168	0.558000	0.71614	GCC		0.657	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		T	677418	C	T	677418	3	4	535	1	0	0	0	0	1	0	0	0	9539	739	26	2	722	2	MFSD7	4	677418	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08		677418	190476858	42	28671											
ATP10D	57205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	47559972	47559972	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:47559972A>T	ENST00000273859.3	+	12	2385	c.2116A>T	c.(2116-2118)Aat>Tat	p.N706Y	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	706					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N706Y(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGGCCTCCTGAATGGCAAGGC	0.597																																																1	Substitution - Missense(1)	kidney(1)											60	55	57					4																	47559972		2203	4300	6503	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2116A>T	4.37:g.47559972A>T	ENSP00000273859:p.Asn706Tyr		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.185446	0.38609	.	.	ENSG00000145246	ENST00000273859	T	0.39229	1.09	5.04	-5.04	0.02964	HAD-like domain (1);	1.926870	0.01793	N	0.032447	T	0.26159	0.0638	N	0.08118	0	0.09310	N	1	B	0.31459	0.324	B	0.40038	0.317	T	0.25572	-1.0128	10	0.59425	D	0.04	0.3716	3.5607	0.07881	0.3984:0.1105:0.3835:0.1077	.	706	Q9P241	AT10D_HUMAN	Y	706	ENSP00000273859:N706Y	ENSP00000273859:N706Y	N	+	1	0	ATP10D	47254729	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.196000	0.03041	-1.065000	0.03168	0.459000	0.35465	AAT		0.597	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		T	47559972	A	T	47559972	3	4	535	1	0	0	0	0	1	0	0	0	1118	246	9	5	2158	5	ATP10D	4	47559972	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	46882554	47559972	143594304	43	28672											
FRYL	285527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	48566087	48566087	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:48566087C>G	ENST00000503238.1	-	28	3473	c.3474G>C	c.(3472-3474)ttG>ttC	p.L1158F	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L1158F|FRYL_ENST00000358350.4_Missense_Mutation_p.L1158F|FRYL_ENST00000507711.1_Missense_Mutation_p.L1158F			O94915	FRYL_HUMAN	FRY-like	1158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.L1158F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCTCCAGTAACAACGTAACTG	0.512																																																1	Substitution - Missense(1)	kidney(1)											64	67	66					4																	48566087		1982	4166	6148	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3474G>C	4.37:g.48566087C>G	ENSP00000426064:p.Leu1158Phe		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.353305|2.353305	0.41700|0.41700	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711|ENST00000514617	T;T;T;T|.	0.04917|.	3.53;3.53;3.53;3.55|.	5.38|5.38	-1.64|-1.64	0.08318|0.08318	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.56097|.	U|.	0.000021|.	T|T	0.62245|0.62245	0.2412|0.2412	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.985|.	D;D|.	0.79108|.	0.992;0.927|.	T|T	0.59899|0.59899	-0.7367|-0.7367	10|5	0.09843|.	T|.	0.71|.	.|.	2.6206|2.6206	0.04915|0.04915	0.1129:0.4561:0.1126:0.3184|0.1129:0.4561:0.1126:0.3184	.|.	1158;1158|.	F2Z2S2;O94915|.	.;FRYL_HUMAN|.	F|L	1158|29	ENSP00000426064:L1158F;ENSP00000351113:L1158F;ENSP00000441114:L1158F;ENSP00000421584:L1158F|.	ENSP00000351113:L1158F|.	L|V	-|-	3|1	2|0	FRYL|FRYL	48260844|48260844	0.997000|0.997000	0.39634|0.39634	0.024000|0.024000	0.17045|0.17045	0.150000|0.150000	0.21749|0.21749	0.794000|0.794000	0.26958|0.26958	-0.287000|-0.287000	0.09064|0.09064	-0.165000|-0.165000	0.13383|0.13383	TTG|GTT		0.512	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			G	48566087	C	G	48566087	3	3	535	1	0	0	0	0	1	0	0	0	6066	477	17	4	5703	4	FRYL	4	48566087	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	1006115	48566087	142588189	44	28673											
TECRL	253017	broad.mit.edu;hgsc.bcm.edu	37	4	65274893	65274893	+	Silent	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:65274893G>A	ENST00000381210.3	-	1	287	c.177C>T	c.(175-177)caC>caT	p.H59H	TECRL_ENST00000507440.1_Silent_p.H59H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	59					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.H59H(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAATCTCAAAGTGAGTCGTTT	0.328																																																1	Substitution - coding silent(1)	kidney(1)											66	64	65					4																	65274893		2203	4300	6503	SO:0001819	synonymous_variant	253017			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.177C>T	4.37:g.65274893G>A				Silent	SNP	ENST00000381210.3	37	CCDS33990.1																																																																																				0.328	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		A	65274893	G	A	65274893	2	1	535	1	0	0	0	0	0	0	0	1	15751	1020	36	2		2	TECRL	4	65274893	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	16708806	65274893	125879383	45	28674											
THAP9	79725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83838940	83838940	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:83838940C>G	ENST00000302236.5	+	5	1626	c.1575C>G	c.(1573-1575)aaC>aaG	p.N525K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	525					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.N525K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATAGTAGGAACTGTTATGGAA	0.338																																																1	Substitution - Missense(1)	kidney(1)											106	111	109					4																	83838940		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1575C>G	4.37:g.83838940C>G	ENSP00000305533:p.Asn525Lys		B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	6.992	0.553178	0.13374	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.91011	-2.77	3.87	3.02	0.34903	.	0.362319	0.24052	N	0.041995	D	0.84964	0.5589	M	0.61703	1.905	0.80722	D	1	P	0.47409	0.895	B	0.37989	0.262	T	0.81258	-0.1014	10	0.12103	T	0.63	-25.1457	9.742	0.40424	0.0:0.9011:0.0:0.0989	.	525	Q9H5L6	THAP9_HUMAN	K	525	ENSP00000305533:N525K	ENSP00000305533:N525K	N	+	3	2	THAP9	84057964	0.717000	0.27966	0.926000	0.36857	0.021000	0.10359	0.538000	0.23160	1.214000	0.43395	-0.140000	0.14226	AAC		0.338	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		G	83838940	C	G	83838940	3	3	535	1	0	0	0	0	1	0	0	0	15856	564	20	4	1593	4	THAP9	4	83838940	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	18564047	83838940	107315336	46	28675											
ANKRD50	57182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	125631599	125631599	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:125631599A>C	ENST00000504087.1	-	2	1105	c.68T>G	c.(67-69)tTt>tGt	p.F23C	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	23								p.F23C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CCTACAGTAAAACTGCTTCCC	0.423																																																1	Substitution - Missense(1)	kidney(1)											107	113	111					4																	125631599		2203	4300	6503	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.68T>G	4.37:g.125631599A>C	ENSP00000425658:p.Phe23Cys		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295658	0.81025	.	.	ENSG00000151458	ENST00000504087	T	0.17854	2.25	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000006	T	0.41834	0.1176	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.27971	-1.0058	10	0.87932	D	0	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	23	Q9ULJ7	ANR50_HUMAN	C	23	ENSP00000425658:F23C	ENSP00000425658:F23C	F	-	2	0	ANKRD50	125851049	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.539000	0.90637	2.225000	0.72522	0.459000	0.35465	TTT		0.423	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		C	125631599	A	C	125631599	3	2	535	1	0	0	0	0	1	0	0	0	677	14	1	5	4233	5	ANKRD50	4	125631599	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	41792659	125631599	65522677	47	28676											
NR3C2	4306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	149356735	149356735	+	Silent	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr4:149356735T>G	ENST00000358102.3	-	2	1640	c.1278A>C	c.(1276-1278)ccA>ccC	p.P426P	NR3C2_ENST00000511528.1_Silent_p.P426P|NR3C2_ENST00000512865.1_Silent_p.P426P|NR3C2_ENST00000344721.4_Silent_p.P426P|NR3C2_ENST00000355292.3_Silent_p.P426P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	426	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.P426P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CTTGCTTTATTGGTACTGAGA	0.383																																					Melanoma(27;428 957 40335 51025 51111)											1	Substitution - coding silent(1)	kidney(1)											82	83	83					4																	149356735		2203	4300	6503	SO:0001819	synonymous_variant	4306			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1278A>C	4.37:g.149356735T>G			B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	CCDS3772.1																																																																																				0.383	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			G	149356735	T	G	149356735	2	3	535	1	0	0	0	0	0	0	0	1	10633	1799	63	5		5	NR3C2	4	149356735	Silent	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	23725136	149356735	41797541	48	28677											
CDH6	1004	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	31299715	31299715	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr5:31299715A>T	ENST00000265071.2	+	5	1053	c.788A>T	c.(787-789)gAc>gTc	p.D263V	CDH6_ENST00000514738.1_Missense_Mutation_p.D208V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	263	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D263V(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATGTCAACGACAACCCTCCC	0.433																																																1	Substitution - Missense(1)	kidney(1)											120	109	113					5																	31299715		2203	4300	6503	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.788A>T	5.37:g.31299715A>T	ENSP00000265071:p.Asp263Val		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687672	0.88639	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.65549	-0.16;-0.16	5.93	5.93	0.95920	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	H	0.98407	4.225	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.77004	0.962;0.989	D	0.92328	0.5871	10	0.87932	D	0	.	16.3839	0.83495	1.0:0.0:0.0:0.0	.	263;263	P55285;P55285-2	CADH6_HUMAN;.	V	208;263	ENSP00000424843:D208V;ENSP00000265071:D263V	ENSP00000265071:D263V	D	+	2	0	CDH6	31335472	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.258000	0.74832	0.533000	0.62120	GAC		0.433	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		T	31299715	A	T	31299715	3	4	535	1	0	0	0	0	1	0	0	0	3116	275	10	5	802	5	CDH6	5	31299715	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08		31299715	149615545	49	28678											
MAP3K1	4214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	56160679	56160679	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr5:56160679T>G	ENST00000399503.3	+	4	953	c.953T>G	c.(952-954)tTa>tGa	p.L318*	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	318					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.L155*(1)|p.L318*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACTGTACTTACTGCAGCAG	0.512																																																2	Substitution - Nonsense(2)	kidney(2)											114	113	113					5																	56160679		1903	4109	6012	SO:0001587	stop_gained	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.953T>G	5.37:g.56160679T>G	ENSP00000382423:p.Leu318*			Nonsense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932502	0.92458	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.897	0.79341	0.0:0.0:0.0:1.0	.	.	.	.	X	318	.	ENSP00000382423:L318X	L	+	2	0	MAP3K1	56196436	1.000000	0.71417	0.569000	0.28460	0.680000	0.39746	6.955000	0.76007	2.209000	0.71365	0.460000	0.39030	TTA		0.512	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		G	56160679	T	G	56160679	4	3	535	1	0	0	0	0	0	1	0	0	9245	1764	61	5	967	5	MAP3K1	5	56160679	Nonsense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	24860964	56160679	124754581	50	28679											
CDX1	1044	broad.mit.edu;hgsc.bcm.edu	37	5	149563073	149563073	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr5:149563073C>G	ENST00000231656.8	+	3	710	c.628C>G	c.(628-630)Cgc>Ggc	p.R210G		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	210					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.R210G(1)		central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCAAAGGAGCGCAAAGTGAA	0.612																																																1	Substitution - Missense(1)	kidney(1)											57	63	61					5																	149563073		2201	4299	6500	SO:0001583	missense	1044			U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"Homeoboxes / ANTP class : HOXL subclass"	1805	protein-coding gene	gene with protein product		600746	"caudal type homeo box transcription factor 1"			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.628C>G	5.37:g.149563073C>G	ENSP00000231656:p.Arg210Gly		Q4VAU4|Q9NYK8	Missense_Mutation	SNP	ENST00000231656.8	37	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226665	0.79576	.	.	ENSG00000113722	ENST00000231656;ENST00000377812	D	0.97642	-4.47	5.73	4.81	0.61882	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	H	0.97315	3.98	0.80722	D	1	P	0.42785	0.79	P	0.56343	0.796	D	0.99023	1.0818	10	0.87932	D	0	-15.9932	12.047	0.53485	0.334:0.666:0.0:0.0	.	210	P47902	CDX1_HUMAN	G	210;99	ENSP00000231656:R210G	ENSP00000231656:R210G	R	+	1	0	CDX1	149543266	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.614000	0.46359	2.710000	0.92621	0.591000	0.81541	CGC		0.612	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7	NM_001804		G	149563073	C	G	149563073	3	3	535	1	0	0	0	0	1	0	0	0	3184	768	27	4	638	4	CDX1	5	149563073	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	93402394	149563073	31352187	51	28680											
ADAMTS2	9509	broad.mit.edu;hgsc.bcm.edu	37	5	178771139	178771139	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr5:178771139C>G	ENST00000251582.7	-	2	264	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E55Q	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	55					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E55Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGATGCGCTCCGCTCCGTGC	0.726																																																1	Substitution - Missense(1)	kidney(1)											7	8	8					5																	178771139		2010	3999	6009	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.163G>C	5.37:g.178771139C>G	ENSP00000251582:p.Glu55Gln			Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486678	0.84854	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.61859	0.13;0.07	5.19	4.3	0.51218	.	0.000000	0.45361	D	0.000378	T	0.40322	0.1112	N	0.24115	0.695	0.40107	D	0.976442	B;B	0.27351	0.176;0.062	B;B	0.24541	0.054;0.017	T	0.33497	-0.9866	10	0.49607	T	0.09	.	8.3924	0.32537	0.0:0.7609:0.1572:0.0819	.	55;55	O95450-2;O95450	.;ATS2_HUMAN	Q	55	ENSP00000251582:E55Q;ENSP00000274609:E55Q	ENSP00000251582:E55Q	E	-	1	0	ADAMTS2	178703745	1.000000	0.71417	0.980000	0.43619	0.978000	0.69477	4.360000	0.59455	1.149000	0.42402	0.462000	0.41574	GAG		0.726	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		G	178771139	C	G	178771139	3	3	535	1	0	0	0	0	1	0	0	0	265	864	30	4	3631	4	ADAMTS2	5	178771139	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	29208066	178771139	2144121	52	28681											
CANX	821	broad.mit.edu;hgsc.bcm.edu	37	5	179149818	179149818	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr5:179149818C>A	ENST00000247461.4	+	11	1396	c.1196C>A	c.(1195-1197)cCc>cAc	p.P399H	CANX_ENST00000452673.2_Missense_Mutation_p.P399H|CANX_ENST00000415618.2_Missense_Mutation_p.P434H|CANX_ENST00000512607.2_Missense_Mutation_p.P291H|CANX_ENST00000504734.1_Missense_Mutation_p.P399H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	399	4 X approximate repeats.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)	p.P399H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	ATCTGGAAACCCAGGAAAATA	0.363																																																1	Substitution - Missense(1)	kidney(1)											64	67	66					5																	179149818		2203	4300	6503	SO:0001583	missense	821			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1196C>A	5.37:g.179149818C>A	ENSP00000247461:p.Pro399His		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639796	0.87760	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.39	5.39	0.77823	Calreticulin/calnexin, P (2);	0.099528	0.64402	D	0.000001	T	0.69133	0.3077	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.65874	0.939;0.869	T	0.67522	-0.5649	10	0.45353	T	0.12	-2.989	19.5041	0.95108	0.0:1.0:0.0:0.0	.	434;399	B4DGP8;P27824	.;CALX_HUMAN	H	399;434;399;399;291	ENSP00000424063:P399H;ENSP00000394817:P434H;ENSP00000391646:P399H;ENSP00000247461:P399H;ENSP00000423588:P291H	ENSP00000247461:P399H	P	+	2	0	CANX	179082424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.784000	0.85713	2.676000	0.91093	0.650000	0.86243	CCC		0.363	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		A	179149818	C	A	179149818	3	1	535	1	0	0	0	0	1	0	0	0	2620	623	22	4	1234	4	CANX	5	179149818	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	378679	179149818	1765442	53	28682											
HIVEP1	3096	hgsc.bcm.edu;ucsc.edu	37	6	12161803	12161803	+	Frame_Shift_Del	DEL	C	C	-	rs34103769		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr6:12161803delC	ENST00000379388.2	+	8	6951	c.6619delC	c.(6619-6621)cccfs	p.P2207fs	HIVEP1_ENST00000541134.1_Frame_Shift_Del_p.P72fs	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2207					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCAGCCACACCCTCAGTCAC	0.502																																																0													74	84	81					6																	12161803		2129	4253	6382	SO:0001589	frameshift_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6619delC	6.37:g.12161803delC	ENSP00000368698:p.Pro2207fs		B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Del	DEL	ENST00000379388.2	37	CCDS43426.1																																																																																				0.502	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		-	12161803	C	-	12161803	7	5	535	1	0	1	0	1	0	0	0	0	7188	507	18	0	6645	0	HIVEP1	6	12161803	Frame_Shift_Del	DEL	C	TCGA-CJ-4920-01A-01D-1429-08		12161803	158953264	54	28683											
BAT1	7919	broad.mit.edu;hgsc.bcm.edu	37	6	31507024	31507024	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr6:31507024A>G	ENST00000396172.1	-	3	869	c.239T>C	c.(238-240)aTt>aCt	p.I80T	SNORD84_ENST00000584275.1_RNA|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000449074.2_Missense_Mutation_p.I80T|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000458640.1_Missense_Mutation_p.I80T|DDX39B_ENST00000376177.2_Missense_Mutation_p.I80T|DDX39B_ENST00000453105.2_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Missense_Mutation_p.I80T	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	80	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.I80T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CATTCCCAGAATGGCCTGAGG	0.517																																																1	Substitution - Missense(1)	kidney(1)											119	124	123					6																	31507024		1511	2709	4220	SO:0001583	missense	0			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.239T>C	6.37:g.31507024A>G	ENSP00000379475:p.Ile80Thr		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895715	0.72639	.	.	ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000427214;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000449074;ENST00000428450;ENST00000449757;ENST00000456976;ENST00000418897;ENST00000419020;ENST00000458215	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.53	5.53	0.82687	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	L	0.43646	1.37	0.80722	D	1	D;P;D	0.64830	0.994;0.825;0.991	D;P;D	0.68621	0.959;0.841;0.948	T	0.01401	-1.1364	10	0.66056	D	0.02	-11.5939	13.6077	0.62056	1.0:0.0:0.0:0.0	.	100;80;80	Q59G92;Q13838;Q5STU3	.;DX39B_HUMAN;.	T	80;80;80;80;80;80;80;80;80;80;103;80;95;80;80	ENSP00000365347:I80T;ENSP00000416269:I80T;ENSP00000379475:I80T;ENSP00000412582:I80T;ENSP00000399371:I80T;ENSP00000392672:I80T;ENSP00000410313:I80T;ENSP00000416350:I80T;ENSP00000391946:I80T;ENSP00000405707:I80T;ENSP00000409426:I103T;ENSP00000393984:I80T;ENSP00000399841:I95T;ENSP00000405245:I80T	ENSP00000365347:I80T	I	-	2	0	DDX39B	31615003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.770000	0.91746	2.095000	0.63458	0.460000	0.39030	ATT		0.517	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		G	31507024	A	G	31507024	3	3	535	1	0	0	0	0	1	0	0	0	1318	101	4	3	1083	3	BAT1	6	31507024	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	19345221	31507024	139608043	55	28684											
PTK7	5754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43107181	43107181	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr6:43107181G>T	ENST00000230419.4	+	10	1757	c.1536G>T	c.(1534-1536)caG>caT	p.Q512H	PTK7_ENST00000352931.2_Missense_Mutation_p.Q512H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q520H|PTK7_ENST00000345201.2_Intron|PTK7_ENST00000349241.2_Intron	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	512	Ig-like C2-type 6.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q512H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCCACAGCAGTGCATGGAGT	0.597																																																1	Substitution - Missense(1)	kidney(1)											71	70	70					6																	43107181		2203	4300	6503	SO:0001583	missense	5754			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1536G>T	6.37:g.43107181G>T	ENSP00000230419:p.Gln512His		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867677	0.72065	.	.	ENSG00000112655	ENST00000230419;ENST00000352931;ENST00000481273	T;T;T	0.67698	-0.28;-0.28;-0.28	5.44	1.67	0.24075	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.39085	1.19	0.58432	D	0.99999	P;D;D	0.89917	0.8;1.0;1.0	P;D;D	0.77557	0.474;0.987;0.99	T	0.58393	-0.7644	10	0.37606	T	0.19	.	10.2984	0.43637	0.2687:0.0:0.7313:0.0	.	520;512;512	E9PFZ5;Q13308-4;Q13308	.;.;PTK7_HUMAN	H	512;512;520	ENSP00000230419:Q512H;ENSP00000326029:Q512H;ENSP00000418754:Q520H	ENSP00000230418:Q512H	Q	+	3	2	PTK7	43215159	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	2.932000	0.48940	0.021000	0.15133	-0.229000	0.12294	CAG		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			T	43107181	G	T	43107181	3	4	535	1	0	0	0	0	1	0	0	0	12771	1020	36	4	1574	4	PTK7	6	43107181	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	11600157	43107181	128007886	56	28685											
ENPP3	5169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	131995388	131995388	+	Silent	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr6:131995388A>G	ENST00000414305.1	+	9	1057	c.729A>G	c.(727-729)gaA>gaG	p.E243E	ENPP3_ENST00000427148.2_Silent_p.E209E|ENPP3_ENST00000357639.3_Silent_p.E243E|ENPP3_ENST00000543135.1_Silent_p.E209E|ENPP3_ENST00000358229.5_Silent_p.E243E			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	243	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E243E(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTTCAAAGGAACAAAATAATC	0.393																																																1	Substitution - coding silent(1)	kidney(1)											62	58	59					6																	131995388		2203	4300	6503	SO:0001819	synonymous_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.729A>G	6.37:g.131995388A>G			Q5JTL3	Silent	SNP	ENST00000414305.1	37	CCDS5148.1																																																																																				0.393	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			G	131995388	A	G	131995388	2	3	535	1	0	0	0	0	0	0	0	1	5133	40	2	3		3	ENPP3	6	131995388	Silent	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	88888207	131995388	39119679	57	28686											
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121650685	121650685	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr7:121650685C>G	ENST00000393386.2	+	12	1996	c.1585C>G	c.(1585-1587)Cac>Gac	p.H529D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.H529D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	529					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H529D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGCCACCTCACACTGTGGA	0.408																																																2	Substitution - Missense(2)	kidney(2)											80	77	78					7																	121650685		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1585C>G	7.37:g.121650685C>G	ENSP00000377047:p.His529Asp		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	2.783	-0.253156	0.05829	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.41400	1.05;1.0	4.84	1.9	0.25705	.	1.071700	0.07213	N	0.859553	T	0.36936	0.0985	L	0.51422	1.61	0.09310	N	1	B;B	0.18610	0.0;0.029	B;B	0.14023	0.0;0.01	T	0.31503	-0.9941	10	0.18710	T	0.47	.	10.2449	0.43334	0.0:0.5444:0.3817:0.0739	.	529;529	C9JFM0;P23471	.;PTPRZ_HUMAN	D	529	ENSP00000377047:H529D;ENSP00000410000:H529D	ENSP00000377047:H529D	H	+	1	0	PTPRZ1	121437921	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	0.717000	0.25851	0.280000	0.22209	0.655000	0.94253	CAC		0.408	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		G	121650685	C	G	121650685	3	3	535	1	0	0	0	0	1	0	0	0	12820	826	29	4	1631	4	PTPRZ1	7	121650685	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08		121650685	37487978	58	28687											
NCAPG2	54892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	158447311	158447311	+	Silent	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr7:158447311G>T	ENST00000409423.1	-	23	2894	c.2722C>A	c.(2722-2724)Cgg>Agg	p.R908R	NCAPG2_ENST00000449727.2_Silent_p.R908R|NCAPG2_ENST00000409339.3_Silent_p.R908R|NCAPG2_ENST00000275830.10_Silent_p.R700R|NCAPG2_ENST00000356309.3_Silent_p.R908R|NCAPG2_ENST00000541468.1_Silent_p.R409R	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	908					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.R908R(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CCAAGACTCCGCTGTAAGAGT	0.463																																																1	Substitution - coding silent(1)	kidney(1)											185	179	181					7																	158447311		1939	4153	6092	SO:0001819	synonymous_variant	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2722C>A	7.37:g.158447311G>T			A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.364807	0.01235	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.79	-4.56	0.03431	.	.	.	.	.	T	0.26231	0.0640	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33954	-0.9848	4	.	.	.	-0.1324	6.6849	0.23140	0.4063:0.0:0.3437:0.2499	.	.	.	.	R	709	.	.	S	-	3	2	NCAPG2	158140072	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	-0.890000	0.04140	-0.638000	0.05509	-0.310000	0.09108	AGC		0.463	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		T	158447311	G	T	158447311	2	4	535	1	0	0	0	0	0	0	0	1	10210	1086	38	4		4	NCAPG2	7	158447311	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	36796626	158447311	691352	59	28688											
MSR1	4481	broad.mit.edu	37	8	16026114	16026114	+	Silent	SNP	G	G	T	rs533140719		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr8:16026114G>T	ENST00000262101.5	-	4	604	c.483C>A	c.(481-483)acC>acA	p.T161T	MSR1_ENST00000445506.2_Silent_p.T179T|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Silent_p.T161T|MSR1_ENST00000350896.3_Silent_p.T161T|MSR1_ENST00000355282.2_Silent_p.T161T			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	161					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.T161T(4)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGGAAAACAAGGTACTTAGCT	0.388																																																4	Substitution - coding silent(4)	lung(2)|kidney(2)											212	193	199					8																	16026114		2203	4300	6503	SO:0001819	synonymous_variant	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.483C>A	8.37:g.16026114G>T			D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	CCDS5995.1																																																																																				0.388	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			T	16026114	G	T	16026114	2	4	535	1	0	0	0	0	0	0	0	1	9888	987	35	4		4	MSR1	8	16026114	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08		16026114	130337908	60	28689											
ARFGEF1	10565	hgsc.bcm.edu;ucsc.edu	37	8	68137214	68137214	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr8:68137214delA	ENST00000262215.3	-	29	4521	c.4132delT	c.(4132-4134)tggfs	p.W1378fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Del_p.W832fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Del_p.W216fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1378					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCTCTCACCCACACCCTGTCT	0.373																																																0													135	123	127					8																	68137214		2203	4300	6503	SO:0001589	frameshift_variant	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4132delT	8.37:g.68137214delA	ENSP00000262215:p.Trp1378fs		Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Del	DEL	ENST00000262215.3	37	CCDS6199.1																																																																																				0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		-	68137214	A	-	68137214	7	5	535	1	0	1	0	1	0	0	0	0	852	159	6	0	1461	0	ARFGEF1	8	68137214	Frame_Shift_Del	DEL	A	TCGA-CJ-4920-01A-01D-1429-08	52111100	68137214	78226808	61	28690											
SULF1	23213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	70514054	70514054	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr8:70514054C>G	ENST00000260128.4	+	10	1768	c.1051C>G	c.(1051-1053)Cca>Gca	p.P351A	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.P351A|SULF1_ENST00000402687.4_Missense_Mutation_p.P351A|SULF1_ENST00000419716.3_Missense_Mutation_p.P351A	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	351					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.P351A(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAGTGTAGAACCAGGATCAAT	0.403																																																1	Substitution - Missense(1)	kidney(1)											345	301	316					8																	70514054		2203	4300	6503	SO:0001583	missense	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1051C>G	8.37:g.70514054C>G	ENSP00000260128:p.Pro351Ala		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	5.607	0.296765	0.10622	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	6.16	6.16	0.99307	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.093125	0.85682	D	0.000000	D	0.90810	0.7114	N	0.11284	0.12	0.58432	D	0.999995	B	0.06786	0.001	B	0.11329	0.006	D	0.85951	0.1464	10	0.05833	T	0.94	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	351	Q8IWU6	SULF1_HUMAN	A	351	ENSP00000403040:P351A;ENSP00000260128:P351A;ENSP00000385704:P351A;ENSP00000390315:P351A	ENSP00000260128:P351A	P	+	1	0	SULF1	70676608	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.149000	0.50655	2.937000	0.99478	0.650000	0.86243	CCA		0.403	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		G	70514054	C	G	70514054	3	3	535	1	0	0	0	0	1	0	0	0	15375	507	18	4	1073	4	SULF1	8	70514054	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	2376840	70514054	75849968	62	28691											
INTS8	55656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	95861709	95861709	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr8:95861709A>C	ENST00000523731.1	+	11	1413	c.1280A>C	c.(1279-1281)aAt>aCt	p.N427T	INTS8_ENST00000447247.1_Missense_Mutation_p.N427T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	427					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.N427T(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGATCAGTAAATTTAGAAAAA	0.254																																																1	Substitution - Missense(1)	kidney(1)											54	63	60					8																	95861709		2197	4286	6483	SO:0001583	missense	55656			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1280A>C	8.37:g.95861709A>C	ENSP00000430338:p.Asn427Thr		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.47|10.47	1.358123|1.358123	0.24598|0.24598	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.55|5.55	4.38|4.38	0.52667|0.52667	.|.	.|0.245199	.|0.49305	.|D	.|0.000141	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.08118|0.08118	0|0	0.29123|0.29123	N|N	0.880102|0.880102	.|B;B	.|0.13145	.|0.007;0.007	.|B;B	.|0.18263	.|0.013;0.021	T|T	0.16100|0.16100	-1.0414|-1.0414	5|9	.|0.19147	.|T	.|0.46	-5.9386|-5.9386	8.0123|8.0123	0.30361|0.30361	0.7231:0.1417:0.0:0.1353|0.7231:0.1417:0.0:0.1353	.|.	.|427;427	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	L|T	249|427	.|.	.|ENSP00000343274:N427T	I|N	+|+	1|2	0|0	INTS8|INTS8	95930885|95930885	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.989000|0.989000	0.77384|0.77384	3.654000|3.654000	0.54453|0.54453	1.014000|1.014000	0.39417|0.39417	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.254	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		C	95861709	A	C	95861709	3	2	535	1	0	0	0	0	1	0	0	0	7786	101	4	5	1322	5	INTS8	8	95861709	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	25347655	95861709	50502313	63	28692											
EFR3A	23167	broad.mit.edu;hgsc.bcm.edu	37	8	132956999	132956999	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr8:132956999T>G	ENST00000254624.5	+	3	320	c.95T>G	c.(94-96)cTt>cGt	p.L32R	EFR3A_ENST00000334503.4_Missense_Mutation_p.L32R|EFR3A_ENST00000519656.1_5'UTR	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	32						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.L32R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TAGGATGGCCTTGTGAAAACT	0.343																																																1	Substitution - Missense(1)	kidney(1)											68	66	67					8																	132956999		2202	4299	6501	SO:0001583	missense	23167			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.95T>G	8.37:g.132956999T>G	ENSP00000254624:p.Leu32Arg		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	18.48	3.634044	0.67130	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503	T;T	0.19938	2.11;2.11	5.75	4.59	0.56863	.	.	.	.	.	T	0.45975	0.1369	M	0.79011	2.435	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.45833	-0.9234	9	0.87932	D	0	-16.4579	11.0901	0.48110	0.0:0.0721:0.0:0.9279	.	32	Q14156	EFR3A_HUMAN	R	32	ENSP00000254624:L32R;ENSP00000334769:L32R	ENSP00000254624:L32R	L	+	2	0	EFR3A	133026181	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	8.040000	0.89188	1.007000	0.39238	-0.290000	0.09829	CTT		0.343	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		G	132956999	T	G	132956999	3	3	535	1	0	0	0	0	1	0	0	0	4960	1609	56	5	105	5	EFR3A	8	132956999	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	37095290	132956999	13407023	64	28693											
ALDH1B1	219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	38395753	38395753	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:38395753G>T	ENST00000377698.3	+	2	161	c.8G>T	c.(7-9)cGc>cTc	p.R3L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	3					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.R3L(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AGCATGCTGCGCTTCCTGGCA	0.622																																																1	Substitution - Missense(1)	kidney(1)											52	50	51					9																	38395753		2203	4299	6502	SO:0001583	missense	219			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.8G>T	9.37:g.38395753G>T	ENSP00000366927:p.Arg3Leu		B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346321	0.41599	.	.	ENSG00000137124	ENST00000377698	T	0.75477	-0.94	5.81	3.98	0.46160	.	0.373597	0.19438	N	0.114242	T	0.53786	0.1818	N	0.08118	0	0.39665	D	0.970671	B	0.02656	0.0	B	0.04013	0.001	T	0.51529	-0.8694	10	0.87932	D	0	.	8.904	0.35512	0.1709:0.0:0.8291:0.0	.	3	P30837	AL1B1_HUMAN	L	3	ENSP00000366927:R3L	ENSP00000366927:R3L	R	+	2	0	ALDH1B1	38385753	0.197000	0.23362	0.229000	0.23960	0.877000	0.50540	0.834000	0.27518	0.806000	0.34183	0.655000	0.94253	CGC		0.622	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			T	38395753	G	T	38395753	3	4	535	1	0	0	0	0	1	0	0	0	493	1087	38	4	10	4	ALDH1B1	9	38395753	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08		38395753	102817678	65	28694											
TRPM6	140803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	77435329	77435329	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:77435329T>G	ENST00000360774.1	-	9	1262	c.1025A>C	c.(1024-1026)cAg>cCg	p.Q342P	TRPM6_ENST00000451710.3_Missense_Mutation_p.Q342P|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q337P|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q342P|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q337P|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q342P|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q342P	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	342					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q342P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCTTTCACCTGAGGTCGCAG	0.448																																																1	Substitution - Missense(1)	kidney(1)											107	100	102					9																	77435329		2203	4300	6503	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1025A>C	9.37:g.77435329T>G	ENSP00000354006:p.Gln342Pro		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	4.098	0.016190	0.07959	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.37	2.68	0.31781	.	0.216858	0.47852	N	0.000220	T	0.34803	0.0910	L	0.56769	1.78	0.41687	D	0.989324	B;B;B;B	0.34264	0.001;0.001;0.015;0.446	B;B;B;B	0.37144	0.003;0.004;0.011;0.242	T	0.27054	-1.0085	10	0.66056	D	0.02	.	9.3779	0.38295	0.1266:0.0:0.1165:0.7568	.	342;342;342;337	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	P	342;342;342;342;337;337;342;5;5	ENSP00000354006:Q342P;ENSP00000407341:Q342P;ENSP00000366068:Q342P;ENSP00000366067:Q342P;ENSP00000396672:Q337P;ENSP00000354962:Q337P;ENSP00000366060:Q342P	ENSP00000309693:Q5P	Q	-	2	0	TRPM6	76625149	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	3.380000	0.52448	0.849000	0.35215	-0.316000	0.08728	CAG		0.448	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		G	77435329	T	G	77435329	3	3	535	1	0	0	0	0	1	0	0	0	16595	1580	55	5	5167	5	TRPM6	9	77435329	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	39039576	77435329	63778102	66	28695											
KIF27	55582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86518027	86518027	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:86518027C>A	ENST00000297814.2	-	4	1549	c.1406G>T	c.(1405-1407)gGa>gTa	p.G469V	KIF27_ENST00000413982.1_Missense_Mutation_p.G469V|KIF27_ENST00000334204.2_Missense_Mutation_p.G469V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	469					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G469V(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATGCTGTGGTCCTTCTTCCAG	0.413																																																1	Substitution - Missense(1)	kidney(1)											119	114	115					9																	86518027		2203	4300	6503	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1406G>T	9.37:g.86518027C>A	ENSP00000297814:p.Gly469Val		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871664	0.51695	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.57107	0.42;0.42;0.42	5.2	4.31	0.51392	.	0.244521	0.27518	N	0.019011	T	0.54870	0.1885	L	0.51422	1.61	0.50039	D	0.999843	P;P;P	0.51240	0.493;0.943;0.808	B;P;B	0.54815	0.143;0.761;0.261	T	0.50180	-0.8858	10	0.25751	T	0.34	.	8.06	0.30627	0.0:0.8165:0.0:0.1835	.	469;469;469	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	V	469	ENSP00000297814:G469V;ENSP00000401688:G469V;ENSP00000333928:G469V	ENSP00000297814:G469V	G	-	2	0	KIF27	85707847	0.431000	0.25546	1.000000	0.80357	0.861000	0.49209	0.536000	0.23129	1.202000	0.43218	0.655000	0.94253	GGA		0.413	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		A	86518027	C	A	86518027	3	1	535	1	0	0	0	0	1	0	0	0	8298	855	30	4	2859	4	KIF27	9	86518027	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	9082698	86518027	54695404	67	28696											
C9orf5	23731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	111855820	111855820	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:111855820T>G	ENST00000374586.3	-	4	882	c.851A>C	c.(850-852)aAc>aCc	p.N284T		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	284						integral component of membrane (GO:0016021)		p.N284T(1)									GATGGCCAAGTTTGCCAGAGT	0.453																																																1	Substitution - Missense(1)	kidney(1)											135	134	135					9																	111855820		1950	4151	6101	SO:0001583	missense	0			AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.851A>C	9.37:g.111855820T>G	ENSP00000363714:p.Asn284Thr		B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	T	6.466	0.454193	0.12283	.	.	ENSG00000106771	ENST00000374587;ENST00000374586;ENST00000223608	T	0.21932	1.98	5.67	3.66	0.41972	.	0.110845	0.40222	N	0.001149	T	0.05456	0.0144	N	0.00677	-1.265	0.33202	D	0.552235	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25467	-1.0131	10	0.08179	T	0.78	-7.0323	10.3717	0.44058	0.0:0.0:0.4474:0.5526	.	284;284	Q9H330-2;Q9H330	.;CI005_HUMAN	T	284	ENSP00000363714:N284T	ENSP00000223608:N284T	N	-	2	0	C9orf5	110895641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.861000	0.39438	0.582000	0.29556	0.455000	0.32223	AAC		0.453	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		G	111855820	T	G	111855820	3	3	535	1	0	0	0	0	1	0	0	0	2488	1725	60	5	1848	5	C9orf5	9	111855820	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	25337793	111855820	29357611	68	28697											
EPB41L4B	54566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	111979310	111979310	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:111979310G>C	ENST00000374566.3	-	16	2042	c.1525C>G	c.(1525-1527)Cag>Gag	p.Q509E		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	509	His-rich.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.Q509E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						tgctgatgctggtgctggtgg	0.582																																																1	Substitution - Missense(1)	kidney(1)											118	120	119					9																	111979310		2193	4291	6484	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1525C>G	9.37:g.111979310G>C	ENSP00000363694:p.Gln509Glu		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399955	0.42613	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.83163	-1.69	5.91	5.91	0.95273	.	.	.	.	.	T	0.69052	0.3068	N	0.14661	0.345	0.80722	D	1	B	0.17038	0.02	B	0.14023	0.01	T	0.64309	-0.6438	9	0.08179	T	0.78	.	15.7986	0.78433	0.0:0.0:1.0:0.0	.	509	Q9H329	E41LB_HUMAN	E	194;509	ENSP00000363694:Q509E	ENSP00000262536:Q194E	Q	-	1	0	EPB41L4B	111019131	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	4.930000	0.63462	2.793000	0.96121	0.655000	0.94253	CAG		0.582	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		C	111979310	G	C	111979310	3	2	535	1	0	0	0	0	1	0	0	0	5158	1357	47	4	1221	4	EPB41L4B	9	111979310	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	123490	111979310	29234121	69	28698											
PTPN3	5774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	112172526	112172526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:112172526G>A	ENST00000374541.2	-	15	1587	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	PTPN3_ENST00000262539.3_Nonsense_Mutation_p.Q341*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.Q319*|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000412145.1_Nonsense_Mutation_p.Q364*	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	495					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.Q495*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGTAGTACTGGCTGGCGTCC	0.587																																																1	Substitution - Nonsense(1)	kidney(1)											82	88	86					9																	112172526		2203	4300	6503	SO:0001587	stop_gained	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1483C>T	9.37:g.112172526G>A	ENSP00000363667:p.Gln495*		A0AUW9|E7EN99|E9PGU7	Nonsense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	56	25.379546	0.99965	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	.	.	.	5.67	5.67	0.87782	.	0.458825	0.25006	N	0.033872	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	19.7571	0.96298	0.0:0.0:1.0:0.0	.	.	.	.	X	495;364;319;495;341	.	ENSP00000262539:Q341X	Q	-	1	0	PTPN3	111212347	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.845000	0.75394	2.668000	0.90789	0.563000	0.77884	CAG		0.587	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			A	112172526	G	A	112172526	4	1	535	1	0	0	0	0	0	1	0	0	12795	1357	47	2	1306	2	PTPN3	9	112172526	Nonsense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	193216	112172526	29040905	70	28699											
PAPPA	5069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	118982390	118982390	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:118982390A>T	ENST00000328252.3	+	5	2462	c.2093A>T	c.(2092-2094)gAt>gTt	p.D698V	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	698					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D698V(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCACCTATAGATGGCCATTTC	0.557																																																1	Substitution - Missense(1)	kidney(1)											153	140	145					9																	118982390		2203	4300	6503	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2093A>T	9.37:g.118982390A>T	ENSP00000330658:p.Asp698Val		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754816	0.49362	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.01918	4.56	5.75	5.75	0.90469	.	0.148136	0.64402	D	0.000010	T	0.08626	0.0214	L	0.51422	1.61	0.80722	D	1	D;D	0.62365	0.991;0.969	P;P	0.61800	0.894;0.504	T	0.03077	-1.1075	10	0.62326	D	0.03	-20.833	16.0663	0.80878	1.0:0.0:0.0:0.0	.	142;698	E7EMD3;Q13219	.;PAPP1_HUMAN	V	698;142	ENSP00000330658:D698V	ENSP00000330658:D698V	D	+	2	0	PAPPA	118022211	1.000000	0.71417	0.935000	0.37517	0.954000	0.61252	5.753000	0.68736	2.201000	0.70794	0.533000	0.62120	GAT		0.557	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		T	118982390	A	T	118982390	3	4	535	1	0	0	0	0	1	0	0	0	11434	333	12	5	2111	5	PAPPA	9	118982390	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	6809864	118982390	22231041	71	28700											
ZER1	10444	broad.mit.edu	37	9	131514950	131514950	+	Splice_Site	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:131514950A>C	ENST00000291900.2	-	5	1330		c.e5+1		ZER1_ENST00000494461.1_5'Flank	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator						protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CTGGGGCCCCACCTGGTCTGC	0.572																																																1	Unknown(1)	kidney(1)											36	36	36					9																	131514950		2203	4300	6503	SO:0001630	splice_region_variant	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.923+1T>G	9.37:g.131514950A>C			O00156|Q5T272|Q5T273	Splice_Site	SNP	ENST00000291900.2	37	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235919	0.79800	.	.	ENSG00000160445	ENST00000291900	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1191	0.65175	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZER1	130554771	1.000000	0.71417	0.984000	0.44739	0.876000	0.50452	8.504000	0.90512	2.119000	0.64992	0.533000	0.62120	.		0.572	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336	Intron	C	131514950	A	C	131514950	5	2	535	1	0	0	0	0	0	0	1	0	17630	173	6	5	1423	5	ZER1	9	131514950	Splice_Site	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	12532560	131514950	9698481	72	28701											
PRDM12	59335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133542139	133542139	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:133542139C>T	ENST00000253008.2	+	2	428	c.368C>T	c.(367-369)gCc>gTc	p.A123V		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	123	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.A123V(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CGCGTGATCGCCCCGGAGCAC	0.677																																																1	Substitution - Missense(1)	kidney(1)											67	72	71					9																	133542139		2203	4300	6503	SO:0001583	missense	59335			AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.368C>T	9.37:g.133542139C>T	ENSP00000253008:p.Ala123Val		A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085069	0.76642	.	.	ENSG00000130711	ENST00000253008	T	0.72725	-0.68	5.31	5.31	0.75309	SET domain (2);	0.056468	0.64402	D	0.000001	T	0.66336	0.2779	L	0.52905	1.665	0.45930	D	0.998766	B	0.13594	0.008	B	0.04013	0.001	T	0.61589	-0.7032	10	0.17832	T	0.49	-25.7551	17.9465	0.89040	0.0:1.0:0.0:0.0	.	123	Q9H4Q4	PRD12_HUMAN	V	123	ENSP00000253008:A123V	ENSP00000253008:A123V	A	+	2	0	PRDM12	132531960	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.210000	0.77924	2.483000	0.83821	0.491000	0.48974	GCC		0.677	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		T	133542139	C	T	133542139	3	4	535	1	0	0	0	0	1	0	0	0	12458	739	26	2	374	2	PRDM12	9	133542139	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	2027189	133542139	7671292	73	28702											
ABL1	25	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133750263	133750263	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr9:133750263C>T	ENST00000318560.5	+	7	1475	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	365	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.A365V(1)|p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AGAGATCTTGCTGCCCGAAAC	0.517			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	2	Substitution - Missense(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)											139	127	131					9																	133750263		2203	4300	6503	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1094C>T	9.37:g.133750263C>T	ENSP00000323315:p.Ala365Val		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522580	0.96431	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.63580	-0.05;-0.05	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.107177	0.64402	D	0.000006	D	0.87892	0.6292	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	D	0.92945	0.6375	10	0.87932	D	0	.	17.802	0.88590	0.0:1.0:0.0:0.0	.	365;402	P00519;Q59FK4	ABL1_HUMAN;.	V	180;384;365	ENSP00000361423:A384V;ENSP00000323315:A365V	ENSP00000323315:A365V	A	+	2	0	ABL1	132740084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.810000	0.86072	2.450000	0.82876	0.655000	0.94253	GCT		0.517	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		T	133750263	C	T	133750263	3	4	535	1	0	0	0	0	1	0	0	0	92	797	28	2	1260	2	ABL1	9	133750263	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	208124	133750263	7463168	74	28703											
YME1L1	10730	broad.mit.edu	37	10	27437893	27437893	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:27437893G>A	ENST00000326799.3	-	2	258	c.110C>T	c.(109-111)tCa>tTa	p.S37L	YME1L1_ENST00000376016.3_Missense_Mutation_p.S37L|YME1L1_ENST00000477432.1_Missense_Mutation_p.S37L|YME1L1_ENST00000375972.3_Missense_Mutation_p.S37L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	37					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S37L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTGAGAAACTGACACTCCACT	0.403																																																1	Substitution - Missense(1)	kidney(1)											214	213	213					10																	27437893		2203	4300	6503	SO:0001583	missense	10730			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.110C>T	10.37:g.27437893G>A	ENSP00000318480:p.Ser37Leu		B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466296	0.43839	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.94537	-3.2;-3.45;-3.23	5.49	4.59	0.56863	Peptidase M41, FtsH (1);	0.611979	0.17148	N	0.185185	D	0.87621	0.6223	N	0.14661	0.345	0.19300	N	0.999971	B;B;B;B	0.33637	0.0;0.42;0.0;0.0	B;B;B;B	0.29077	0.0;0.098;0.001;0.001	T	0.82305	-0.0523	10	0.62326	D	0.03	-5.243	12.0148	0.53307	0.1369:0.0:0.8631:0.0	.	37;37;37;37	B4DNM1;Q6PJ89;Q96TA2-2;Q96TA2	.;.;.;YMEL1_HUMAN	L	37;37;37;37;37;29	ENSP00000365184:S37L;ENSP00000318480:S37L;ENSP00000365139:S37L	ENSP00000318480:S37L	S	-	2	0	YME1L1	27477899	1.000000	0.71417	0.028000	0.17463	0.587000	0.36485	6.580000	0.74040	2.580000	0.87095	0.655000	0.94253	TCA		0.403	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		A	27437893	G	A	27437893	3	1	535	1	0	0	0	0	1	0	0	0	17492	1294	45	2	2287	2	YME1L1	10	27437893	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08		27437893	108096854	75	28704											
KIAA0913	23053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75556685	75556685	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:75556685T>C	ENST00000605216.1	+	16	3389	c.3172T>C	c.(3172-3174)Tca>Cca	p.S1058P	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1058P|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.S1063P|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S1025P|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1063P|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1058							zinc ion binding (GO:0008270)	p.S1058P(1)|p.S1063P(1)|p.S443P(1)									ACCACTGACCTCAGGCTCTGC	0.642																																																3	Substitution - Missense(3)	kidney(3)											46	49	48					10																	75556685		1918	4143	6061	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3172T>C	10.37:g.75556685T>C	ENSP00000474748:p.Ser1058Pro		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.56|11.56	1.674090|1.674090	0.29693|0.29693	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000398706	.|T	.|0.46063	.|0.88	5.3|5.3	3.02|3.02	0.34903|0.34903	.|.	.|0.376451	.|0.16903	.|U	.|0.194820	T|T	0.25306|0.25306	0.0615|0.0615	N|N	0.21448|0.21448	0.665|0.665	0.32893|0.32893	D|D	0.512186|0.512186	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.001;0.001	T|T	0.19451|0.19451	-1.0305|-1.0305	5|10	.|0.29301	.|T	.|0.29	-4.2293|-4.2293	7.2609|7.2609	0.26203|0.26203	0.0:0.1877:0.0:0.8123|0.0:0.1877:0.0:0.8123	.|.	.|1058;1070;1058;1063	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	P|P	773|1063	.|ENSP00000381693:S1063P	.|ENSP00000381693:S1063P	L|S	+|+	2|1	0|0	KIAA0913|KIAA0913	75226691|75226691	0.973000|0.973000	0.33851|0.33851	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.765000|1.765000	0.38481|0.38481	2.009000|2.009000	0.58944|0.58944	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.642	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		C	75556685	T	C	75556685	3	2	535	1	0	0	0	0	1	0	0	0	8202	1551	54	3	3249	3	KIAA0913	10	75556685	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	48118792	75556685	59978062	76	28705											
FAM190B	54462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	86130950	86130950	+	Frame_Shift_Del	DEL	A	A	-	rs374108752		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:86130950delA	ENST00000224756.8	+	2	327	c.142delA	c.(142-144)aaafs	p.K48fs	CCSER2_ENST00000359979.4_Frame_Shift_Del_p.K48fs|CCSER2_ENST00000372088.2_Frame_Shift_Del_p.K48fs	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	48					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TAGTAATGTCAAAAGTTACAT	0.353																																																0													58	61	60					10																	86130950		2203	4297	6500	SO:0001589	frameshift_variant	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.142delA	10.37:g.86130950delA	ENSP00000224756:p.Lys48fs		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Frame_Shift_Del	DEL	ENST00000224756.8	37	CCDS31235.1																																																																																				0.353	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		-	86130950	A	-	86130950	7	5	535	1	0	1	0	1	0	0	0	0	5524	131	5	0	144	0	FAM190B	10	86130950	Frame_Shift_Del	DEL	A	TCGA-CJ-4920-01A-01D-1429-08	10574265	86130950	49403797	77	28706											
CYP2C19	1557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96580386	96580386	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:96580386A>C	ENST00000371321.3	+	6	1035	c.953A>C	c.(952-954)gAg>gCg	p.E318A	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	318					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.E318A(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AAGCACCCAGAGGTCACAGGT	0.453																																																1	Substitution - Missense(1)	kidney(1)											163	149	154					10																	96580386		2203	4300	6503	SO:0001583	missense	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.953A>C	10.37:g.96580386A>C	ENSP00000360372:p.Glu318Ala		P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539452	0.45176	.	.	ENSG00000165841	ENST00000371321	T	0.16073	2.37	3.95	3.95	0.45737	.	0.591461	0.15846	U	0.241750	T	0.30510	0.0767	M	0.79926	2.475	0.09310	N	0.999999	P	0.38195	0.622	P	0.45913	0.497	T	0.16188	-1.0411	10	0.87932	D	0	.	9.1683	0.37065	1.0:0.0:0.0:0.0	.	318	P33261	CP2CJ_HUMAN	A	318	ENSP00000360372:E318A	ENSP00000360372:E318A	E	+	2	0	CYP2C19	96570376	0.790000	0.28787	0.692000	0.30179	0.660000	0.38997	3.367000	0.52350	1.639000	0.50556	0.329000	0.21502	GAG		0.453	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		C	96580386	A	C	96580386	3	2	535	1	0	0	0	0	1	0	0	0	4168	304	11	5	975	5	CYP2C19	10	96580386	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	10449436	96580386	38954361	78	28707											
FAM178A	55719	hgsc.bcm.edu;ucsc.edu	37	10	102676845	102676845	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:102676845delA	ENST00000238961.4	+	3	1245	c.703delA	c.(703-705)aaafs	p.K235fs	FAM178A_ENST00000370269.3_Frame_Shift_Del_p.K235fs|FAM178A_ENST00000370271.3_Frame_Shift_Del_p.K235fs	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	235						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											ACTGGGAGCTAAATTCCAGTT	0.493																																																0													58	60	59					10																	102676845		2203	4300	6503	SO:0001589	frameshift_variant	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.703delA	10.37:g.102676845delA	ENSP00000238961:p.Lys235fs		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Frame_Shift_Del	DEL	ENST00000238961.4	37	CCDS7500.1																																																																																				0.493	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			-	102676845	A	-	102676845	7	5	535	1	0	1	0	1	0	0	0	0	5505	363	13	0	713	0	FAM178A	10	102676845	Frame_Shift_Del	DEL	A	TCGA-CJ-4920-01A-01D-1429-08	6096459	102676845	32857902	79	28708	209	2									
FAM178A	55719	hgsc.bcm.edu	37	10	102676847	102676847	+	Missense_Mutation	SNP	A	A	T	rs562339204		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr10:102676847A>T	ENST00000238961.4	+	3	1247	c.705A>T	c.(703-705)aaA>aaT	p.K235N	FAM178A_ENST00000370269.3_Missense_Mutation_p.K235N|FAM178A_ENST00000370271.3_Missense_Mutation_p.K235N	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	235						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TGGGAGCTAAATTCCAGTTGT	0.493																																																0													59	61	60					10																	102676847		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.705A>T	10.37:g.102676847A>T	ENSP00000238961:p.Lys235Asn		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405135	0.42613	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.51817	0.69;1.33;1.32	5.8	2.89	0.33648	.	0.329783	0.26669	N	0.023117	T	0.26846	0.0657	N	0.19112	0.55	0.30748	N	0.745419	B;P;P	0.41848	0.447;0.59;0.763	B;B;B	0.37144	0.22;0.22;0.242	T	0.18085	-1.0348	10	0.41790	T	0.15	-1.7172	5.663	0.17680	0.1663:0.0:0.6773:0.1564	.	235;235;235	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	N	235	ENSP00000359294:K235N;ENSP00000238961:K235N;ENSP00000359292:K235N	ENSP00000238961:K235N	K	+	3	2	FAM178A	102666837	0.032000	0.19561	0.996000	0.52242	0.738000	0.42128	0.064000	0.14437	0.342000	0.23796	-0.248000	0.11899	AAA		0.493	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			T	102676847	A	T	102676847	3	4	535	1	0	0	0	0	1	0	0	0	5505	98	4	5	715	5	FAM178A	10	102676847	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	2	102676847	32857900	80	28709	209	2									
KRTAP5-4	387267	broad.mit.edu	37	11	1643006	1643006	+	Silent	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:1643006G>C	ENST00000399682.1	-	1	362	c.318C>G	c.(316-318)ggC>ggG	p.G106G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G106G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAGCCCCCACAGG	0.682																																																1	Substitution - coding silent(1)	kidney(1)											6	14	11					11																	1643006		642	1507	2149	SO:0001819	synonymous_variant	387267			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.318C>G	11.37:g.1643006G>C				Silent	SNP	ENST00000399682.1	37																																																																																					0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		C	1643006	G	C	1643006	2	2	535	1	0	0	0	0	0	0	0	1	8565	958	34	4		4	KRTAP5-4	11	1643006	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08		1643006	133363510	81	28710											
OR52L1	338751	broad.mit.edu;hgsc.bcm.edu	37	11	6007950	6007950	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:6007950G>A	ENST00000332249.4	-	1	265	c.211C>T	c.(211-213)Cca>Tca	p.P71S		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P56S(1)|p.P71S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAAGGATGGGTCCATCCAG	0.527																																					Melanoma(121;653 1666 10547 22796 51255)											2	Substitution - Missense(2)	kidney(2)											81	84	83					11																	6007950		2080	4224	6304	SO:0001583	missense	338751			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.211C>T	11.37:g.6007950G>A	ENSP00000330338:p.Pro71Ser		B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.286671	0.00248	.	.	ENSG00000183313	ENST00000332249	T	0.02552	4.25	3.64	-6.66	0.01789	GPCR, rhodopsin-like superfamily (1);	0.675472	0.12229	N	0.487625	T	0.01421	0.0046	N	0.16233	0.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47114	-0.9142	10	0.15952	T	0.53	.	6.4178	0.21725	0.6529:0.0:0.1516:0.1956	.	71	Q8NGH7	O52L1_HUMAN	S	71	ENSP00000330338:P71S	ENSP00000330338:P71S	P	-	1	0	OR52L1	5964526	0.000000	0.05858	0.030000	0.17652	0.077000	0.17291	-0.541000	0.06099	-0.834000	0.04239	0.313000	0.20887	CCA		0.527	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		A	6007950	G	A	6007950	3	1	535	1	0	0	0	0	1	0	0	0	11127	1232	43	2	782	2	OR52L1	11	6007950	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	4364944	6007950	128998566	82	28711											
QSER1	79832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32955024	32955024	+	Silent	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:32955024C>T	ENST00000399302.2	+	4	2168	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	QSER1_ENST00000527788.1_Silent_p.I372I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	611								p.I611I(2)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGAGTGTAATCAGAAGTAATT	0.383																																																2	Substitution - coding silent(2)	breast(1)|kidney(1)											97	94	95					11																	32955024		1866	4094	5960	SO:0001819	synonymous_variant	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1833C>T	11.37:g.32955024C>T			Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	CCDS41631.1																																																																																				0.383	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		T	32955024	C	T	32955024	2	4	535	1	0	0	0	0	0	0	0	1	12888	816	29	2		2	QSER1	11	32955024	Silent	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	26947074	32955024	102051492	83	28712											
C11orf41	25758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	33565649	33565649	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:33565649delC	ENST00000321505.4	+	1	1829	c.1649delC	c.(1648-1650)accfs	p.T550fs	KIAA1549L_ENST00000265654.5_Frame_Shift_Del_p.T550fs|KIAA1549L_ENST00000389726.3_Frame_Shift_Del_p.T550fs			Q6ZVL6	K154L_HUMAN	KIAA1549-like	550						integral component of membrane (GO:0016021)											CTTTTGCTAACCTCACCAGGA	0.463																																																0													141	142	142					11																	33565649		2022	4183	6205	SO:0001589	frameshift_variant	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1649delC	11.37:g.33565649delC	ENSP00000315295:p.Thr550fs		B0QYU0	Frame_Shift_Del	DEL	ENST00000321505.4	37	CCDS44565.2																																																																																				0.463	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		-	33565649	C	-	33565649	7	5	535	1	0	1	0	1	0	0	0	0	1642	507	18	0	1651	0	C11orf41	11	33565649	Frame_Shift_Del	DEL	C	TCGA-CJ-4920-01A-01D-1429-08	610625	33565649	101440867	84	28713											
DYNC2H1	79659	broad.mit.edu	37	11	103093809	103093809	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:103093809T>G	ENST00000375735.2	+	59	9491	c.9347T>G	c.(9346-9348)tTa>tGa	p.L3116*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.L3116*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3116	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L549*(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAGGCAGGATTAGAATCGTAA	0.328																																																1	Substitution - Nonsense(1)	kidney(1)											50	45	47					11																	103093809		1822	4087	5909	SO:0001587	stop_gained	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9347T>G	11.37:g.103093809T>G	ENSP00000364887:p.Leu3116*		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	50	16.847462	0.99873	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1501	0.81611	0.0:0.0:0.0:1.0	.	.	.	.	X	3116	.	ENSP00000364887:L3116X	L	+	2	0	DYNC2H1	102599019	1.000000	0.71417	0.961000	0.40146	0.570000	0.35934	7.422000	0.80217	2.219000	0.72066	0.533000	0.62120	TTA		0.328	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103093809	T	G	103093809	4	3	535	1	0	0	0	0	0	1	0	0	4848	1764	61	5	9581	5	DYNC2H1	11	103093809	Nonsense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	69528160	103093809	31912707	85	28714											
TTC12	54970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	113230094	113230094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:113230094G>T	ENST00000529221.1	+	17	1561	c.1456G>T	c.(1456-1458)Gag>Tag	p.E486*	TTC12_ENST00000483239.2_Nonsense_Mutation_p.E492*|TTC12_ENST00000393020.1_Nonsense_Mutation_p.E486*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E486*|TTC12_ENST00000478125.1_3'UTR	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	486								p.E486*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GGCCAGGTGTGAGGAGGATGT	0.478																																																1	Substitution - Nonsense(1)	kidney(1)											263	222	236					11																	113230094		2201	4296	6497	SO:0001587	stop_gained	54970			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1456G>T	11.37:g.113230094G>T	ENSP00000433757:p.Glu486*		Q8N5H9|Q9NWY3	Nonsense_Mutation	SNP	ENST00000529221.1	37	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	35	5.484889	0.96323	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	.	.	.	5.73	5.73	0.89815	.	1.298120	0.04968	N	0.463272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-21.8608	15.3967	0.74801	0.0:0.0:1.0:0.0	.	.	.	.	X	486;486;486;492	.	ENSP00000315160:E486X	E	+	1	0	TTC12	112735304	1.000000	0.71417	0.999000	0.59377	0.593000	0.36681	2.750000	0.47500	2.700000	0.92200	0.655000	0.94253	GAG		0.478	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		T	113230094	G	T	113230094	4	4	535	1	0	0	0	0	0	1	0	0	16684	1291	45	4	1518	4	TTC12	11	113230094	Nonsense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	10136285	113230094	21776422	86	28715											
ANKK1	255239	broad.mit.edu;hgsc.bcm.edu	37	11	113270032	113270032	+	Silent	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr11:113270032C>T	ENST00000303941.3	+	8	1435	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	447							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L447L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CGCGCCTGCTCCTGGACCACG	0.602																																																1	Substitution - coding silent(1)	kidney(1)											20	24	22					11																	113270032		2124	4238	6362	SO:0001819	synonymous_variant	255239			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1341C>T	11.37:g.113270032C>T				Silent	SNP	ENST00000303941.3	37	CCDS44734.1																																																																																				0.602	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		T	113270032	C	T	113270032	2	4	535	1	0	0	0	0	0	0	0	1	631	842	30	2		2	ANKK1	11	113270032	Silent	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	39938	113270032	21736484	87	28716											
APOBEC1	339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7802168	7802168	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:7802168A>G	ENST00000229304.4	-	5	706	c.686T>C	c.(685-687)aTa>aCa	p.I229T		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	229					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I229T(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AGAAGGATGTATCAGCCCTGT	0.403																																					Pancreas(135;929 1826 4531 10527 41012)											1	Substitution - Missense(1)	kidney(1)											172	157	162					12																	7802168		2203	4300	6503	SO:0001583	missense	339			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.686T>C	12.37:g.7802168A>G	ENSP00000229304:p.Ile229Thr		Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.269449	0.23221	.	.	ENSG00000111701	ENST00000229304	T	0.66280	-0.2	4.33	3.18	0.36537	.	1.037890	0.07681	N	0.937123	T	0.54838	0.1883	L	0.57536	1.79	0.09310	N	1	B	0.33694	0.421	B	0.25140	0.058	T	0.50110	-0.8866	10	0.72032	D	0.01	-2.67	6.6042	0.22716	0.8903:0.0:0.1097:0.0	.	229	P41238	ABEC1_HUMAN	T	229	ENSP00000229304:I229T	ENSP00000229304:I229T	I	-	2	0	APOBEC1	7693435	0.113000	0.22115	0.001000	0.08648	0.024000	0.10985	2.905000	0.48727	0.810000	0.34279	0.482000	0.46254	ATA		0.403	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		G	7802168	A	G	7802168	3	3	535	1	0	0	0	0	1	0	0	0	787	449	16	3	28	3	APOBEC1	12	7802168	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08		7802168	126049727	88	28717											
A2M	2	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9225307	9225307	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:9225307G>T	ENST00000318602.7	-	30	4224	c.3917C>A	c.(3916-3918)cCa>cAa	p.P1306Q		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1306					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.P1306Q(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGGCAGCTCTGGCAATGAGAC	0.527																																																1	Substitution - Missense(1)	kidney(1)											185	189	188					12																	9225307		2168	4292	6460	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3917C>A	12.37:g.9225307G>T	ENSP00000323929:p.Pro1306Gln		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956044	0.73902	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.36340	1.26	5.98	5.98	0.97165	.	0.139985	0.49305	D	0.000157	T	0.67767	0.2928	M	0.93016	3.37	0.34944	D	0.750601	D	0.61080	0.989	P	0.58970	0.849	T	0.79845	-0.1631	10	0.66056	D	0.02	.	20.0532	0.97636	0.0:0.0:1.0:0.0	.	1306	P01023	A2MG_HUMAN	Q	1306;1321	ENSP00000323929:P1306Q	ENSP00000323929:P1306Q	P	-	2	0	A2M	9116574	0.988000	0.35896	0.457000	0.27056	0.856000	0.48823	3.944000	0.56629	2.835000	0.97688	0.650000	0.86243	CCA		0.527	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		T	9225307	G	T	9225307	3	4	535	1	0	0	0	0	1	0	0	0	4	1348	47	4	535	4	A2M	12	9225307	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	1423139	9225307	124626588	89	28718											
NACA	4666	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57114669	57114669	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:57114669G>C	ENST00000454682.1	-	3	926	c.645C>G	c.(643-645)caC>caG	p.H215Q	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.H215Q|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	215	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H215Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGTCACACAGTGGTAAGGAA	0.488			T	BCL6	NHL																																		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	1	Substitution - Missense(1)	kidney(1)											209	196	200					12																	57114669		1568	3582	5150	SO:0001583	missense	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.645C>G	12.37:g.57114669G>C	ENSP00000403817:p.His215Gln			Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	G	10.43	1.347947	0.24426	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.33865	1.39;1.39	4.36	0.0504	0.14293	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	P;P	0.50617	0.937;0.557	B;B	0.42959	0.403;0.203	T	0.12477	-1.0546	9	0.87932	D	0	.	2.4162	0.04437	0.3848:0.0:0.3915:0.2238	.	215;215	E9PAV3;F8VU71	.;.	Q	215	ENSP00000403817:H215Q;ENSP00000448035:H215Q	ENSP00000403817:H215Q	H	-	3	2	NACA	55400936	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-0.557000	0.05985	0.645000	0.30675	0.289000	0.19496	CAC		0.488	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		C	57114669	G	C	57114669	3	2	535	1	0	0	0	0	1	0	0	0	10135	1020	36	4	5619	4	NACA	12	57114669	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	47889362	57114669	76737226	90	28719											
SART3	9733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	108929135	108929136	+	Splice_Site	INS	-	-	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:108929135_108929136insT	ENST00000228284.3	-	12	1789_1790	c.1555_1556insA	c.(1555-1557)aga>aAga	p.R519fs	SART3_ENST00000431469.2_Splice_Site_p.R483fs	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	519					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GATCAGTTACCTTTCCAGGTTG	0.52									Porokeratosis																																							0																																										SO:0001630	splice_region_variant	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1556+1->A	12.37:g.108929138_108929138dupT			A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Frame_Shift_Ins	INS	ENST00000228284.3	37	CCDS9117.1																																																																																				0.52	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1		Frame_Shift_Ins	T	108929136	-	T	108929135	8	5	535	1	0	1	1	0	0	0	1	0	13853	695	24	0	1367	0	SART3	12	108929135	Splice_Site	INS	-	TCGA-CJ-4920-01A-01D-1429-08	51814466	108929135	24922760	91	28720											
COQ5	84274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120954469	120954469	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:120954469C>T	ENST00000288532.6	-	3	515	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	COQ5_ENST00000445328.2_Intron	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	159					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.E159K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGGAATCTTCTTCATTCTGG	0.458																																																1	Substitution - Missense(1)	kidney(1)											218	219	218					12																	120954469		2203	4300	6503	SO:0001583	missense	84274			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.475G>A	12.37:g.120954469C>T	ENSP00000288532:p.Glu159Lys		B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159408	0.38119	.	.	ENSG00000110871	ENST00000288532;ENST00000552443;ENST00000547943;ENST00000551769	T;T;T;T	0.63744	-0.06;-0.04;1.0;-0.06	5.41	4.47	0.54385	.	0.430076	0.27478	N	0.019199	T	0.47948	0.1473	L	0.34521	1.04	0.19775	N	0.999959	B	0.30146	0.27	B	0.28011	0.085	T	0.31420	-0.9944	10	0.21540	T	0.41	.	12.1542	0.54066	0.0:0.7885:0.135:0.0765	.	159	Q5HYK3	COQ5_HUMAN	K	159;78;109;78	ENSP00000288532:E159K;ENSP00000449863:E78K;ENSP00000449874:E109K;ENSP00000450001:E78K	ENSP00000288532:E159K	E	-	1	0	COQ5	119438852	0.027000	0.19231	0.997000	0.53966	0.970000	0.65996	1.190000	0.32126	2.536000	0.85505	0.557000	0.71058	GAA		0.458	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		T	120954469	C	T	120954469	3	4	535	1	0	0	0	0	1	0	0	0	3750	922	32	2	528	2	COQ5	12	120954469	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	12025334	120954469	12897426	92	28721											
GPR133	283383	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	131616270	131616270	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr12:131616270G>T	ENST00000261654.5	+	21	2735	c.2176G>T	c.(2176-2178)Gtc>Ttc	p.V726F	GPR133_ENST00000543617.1_Splice_Site_p.V245F|GPR133_ENST00000376682.4_Splice_Site_p.V412F|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000535015.1_Splice_Site_p.V758F	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	726					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V726F(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTGTGCAGGTCAACATTGG	0.587																																																1	Substitution - Missense(1)	kidney(1)											151	115	127					12																	131616270		2203	4300	6503	SO:0001630	splice_region_variant	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2176-1G>T	12.37:g.131616270G>T			B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.334764|4.334764	0.81801|0.81801	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000335486|ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	.|T;T;T;T	.|0.55760	.|0.5;0.5;1.26;1.26	4.39|4.39	4.39|4.39	0.52855|0.52855	.|GPCR, family 2-like (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.62853|0.62853	0.2462|0.2462	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.52692	.|0.642;0.955;0.592	.|P;P;P	.|0.58520	.|0.803;0.84;0.613	T|T	0.62358|0.62358	-0.6871|-0.6871	5|9	.|.	.|.	.|.	.|.	14.7879|14.7879	0.69816|0.69816	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|758;79;726	.|B7ZLF7;Q9NSM3;Q6QNK2	.|.;.;GP133_HUMAN	S|F	79|726;758;412;245	.|ENSP00000261654:V726F;ENSP00000444425:V758F;ENSP00000365872:V412F;ENSP00000438021:V245F	.|.	R|V	+|+	3|1	2|0	GPR133|GPR133	130182223|130182223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.822000|0.822000	0.46500|0.46500	8.094000|8.094000	0.89533|0.89533	2.119000|2.119000	0.64992|0.64992	0.491000|0.491000	0.48974|0.48974	AGG|GTC		0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	Missense_Mutation	T	131616270	G	T	131616270	5	4	535	1	0	0	0	0	0	0	1	0	6645	1275	44	4	2258	4	GPR133	12	131616270	Splice_Site	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	10661801	131616270	2235625	93	28722											
HSPH1	10808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	31729705	31729705	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr13:31729705C>G	ENST00000320027.5	-	3	596	c.252G>C	c.(250-252)aaG>aaC	p.K84N	HSPH1_ENST00000429785.2_5'UTR|HSPH1_ENST00000445273.2_Missense_Mutation_p.K86N|HSPH1_ENST00000380405.4_Missense_Mutation_p.K84N|HSPH1_ENST00000380406.5_Missense_Mutation_p.K84N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	84					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.K84N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCAAGTTTTCCTTCTCCTTTT	0.348																																																1	Substitution - Missense(1)	kidney(1)											107	104	105					13																	31729705		2203	4300	6503	SO:0001583	missense	10808			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.252G>C	13.37:g.31729705C>G	ENSP00000318687:p.Lys84Asn		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592630	0.46214	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000438061	T;T;T;T	0.04234	5.44;5.44;3.67;5.44	5.75	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	L	0.60067	1.865	0.80722	D	1	P;P;B;P;B;B	0.40660	0.726;0.726;0.182;0.567;0.098;0.234	B;B;B;B;B;B	0.43274	0.414;0.414;0.127;0.366;0.112;0.366	T	0.15292	-1.0442	10	0.45353	T	0.12	-29.6434	9.6456	0.39865	0.0:0.7107:0.0:0.2893	.	135;135;84;86;84;84	E7EUG1;B4DZB4;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;.;HS105_HUMAN	N	84;84;84;86;135	ENSP00000318687:K84N;ENSP00000369768:K84N;ENSP00000369769:K84N;ENSP00000396090:K86N	ENSP00000318687:K84N	K	-	3	2	HSPH1	30627705	0.965000	0.33210	1.000000	0.80357	0.992000	0.81027	1.225000	0.32551	1.426000	0.47256	0.563000	0.77884	AAG		0.348	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			G	31729705	C	G	31729705	3	3	535	1	0	0	0	0	1	0	0	0	7433	680	24	4	2388	4	HSPH1	13	31729705	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08		31729705	83440173	94	28723											
N4BP2L2	10443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33110320	33110320	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr13:33110320A>G	ENST00000267068.3	-	2	1009	c.845T>C	c.(844-846)cTt>cCt	p.L282P	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.L282P|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	282					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.L282P(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CAAACTGGGAAGAGGGGGACC	0.388																																																1	Substitution - Missense(1)	kidney(1)											60	61	61					13																	33110320		2203	4300	6503	SO:0001583	missense	10443			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.845T>C	13.37:g.33110320A>G	ENSP00000267068:p.Leu282Pro		A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576025	0.28092	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.46451	0.87;0.88;0.87	5.57	1.87	0.25490	.	.	.	.	.	T	0.22244	0.0536	N	0.12182	0.205	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.04307	-1.0961	9	0.51188	T	0.08	-8.2882	6.4834	0.22075	0.4367:0.0:0.5633:0.0	.	282;282	D6R968;Q92802	.;N42L2_HUMAN	P	282	ENSP00000394239:L282P;ENSP00000423362:L282P;ENSP00000267068:L282P	ENSP00000267068:L282P	L	-	2	0	N4BP2L2	32008320	1.000000	0.71417	0.990000	0.47175	0.681000	0.39784	1.943000	0.40253	0.406000	0.25560	0.455000	0.32223	CTT		0.388	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		G	33110320	A	G	33110320	3	3	535	1	0	0	0	0	1	0	0	0	10114	72	3	3	2787	3	N4BP2L2	13	33110320	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	1380615	33110320	82059558	95	28724											
NALCN	259232	hgsc.bcm.edu;ucsc.edu	37	13	101797201	101797201	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr13:101797201delA	ENST00000251127.6	-	16	1967	c.1886delT	c.(1885-1887)ttafs	p.L629fs		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	629					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCGCAGGCGTAAAGGGAGCTT	0.343																																																0													173	189	183					13																	101797201		2203	4300	6503	SO:0001589	frameshift_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1886delT	13.37:g.101797201delA	ENSP00000251127:p.Leu629fs		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Frame_Shift_Del	DEL	ENST00000251127.6	37	CCDS9498.1																																																																																				0.343	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		-	101797201	A	-	101797201	7	5	535	1	0	1	0	1	0	0	0	0	10150	372	13	0	3446	0	NALCN	13	101797201	Frame_Shift_Del	DEL	A	TCGA-CJ-4920-01A-01D-1429-08	68686881	101797201	13372677	96	28725											
SNW1	22938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	78184796	78184796	+	Silent	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr14:78184796A>G	ENST00000261531.7	-	13	1388	c.1326T>C	c.(1324-1326)gaT>gaC	p.D442D	SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Silent_p.D280D|SNW1_ENST00000555761.1_Silent_p.D442D	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	442					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.D442D(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCTGGGCCATATCTTTACCAC	0.418																																																1	Substitution - coding silent(1)	kidney(1)											100	94	96					14																	78184796		2203	4300	6503	SO:0001819	synonymous_variant	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1326T>C	14.37:g.78184796A>G			A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	ENST00000261531.7	37	CCDS9867.1																																																																																				0.418	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		G	78184796	A	G	78184796	2	3	535	1	0	0	0	0	0	0	0	1	14885	446	16	3		3	SNW1	14	78184796	Silent	SNP	A	TCGA-CJ-4920-01A-01D-1429-08		78184796	29164744	97	28726											
EML5	161436	broad.mit.edu;hgsc.bcm.edu	37	14	89202708	89202708	+	Splice_Site	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr14:89202708C>G	ENST00000380664.5	-	7	1048	c.1049G>C	c.(1048-1050)aGg>aCg	p.R350T	EML5_ENST00000352093.5_Splice_Site_p.R350T|EML5_ENST00000554922.1_Splice_Site_p.R350T			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	350						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.R350T(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATTTGCTTACCTGACCGAACG	0.438																																																1	Substitution - Missense(1)	kidney(1)											165	157	159					14																	89202708		1920	4120	6040	SO:0001630	splice_region_variant	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1049+1G>C	14.37:g.89202708C>G			B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573802	0.86542	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.68025	-0.3;-0.3;-0.3	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86472	0.5941	H	0.95816	3.725	0.80722	D	1	D	0.53619	0.961	P	0.61477	0.889	D	0.90468	0.4451	9	.	.	.	-13.1784	18.6096	0.91279	0.0:1.0:0.0:0.0	.	350	Q05BV3	EMAL5_HUMAN	T	350	ENSP00000451998:R350T;ENSP00000298315:R350T;ENSP00000370039:R350T	.	R	-	2	0	EML5	88272461	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.320000	0.79064	2.634000	0.89283	0.591000	0.81541	AGG		0.438	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		Missense_Mutation	G	89202708	C	G	89202708	5	3	535	1	0	0	0	0	0	0	1	0	5102	695	24	4	5032	4	EML5	14	89202708	Splice_Site	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	11017912	89202708	18146832	98	28727											
KIAA1409	57578	broad.mit.edu;hgsc.bcm.edu	37	14	94129061	94129061	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr14:94129061G>A	ENST00000393151.2	+	41	6753		c.e41+1		UNC79_ENST00000553484.1_Splice_Site|UNC79_ENST00000555664.1_Splice_Site|UNC79_ENST00000256339.4_Splice_Site			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)						behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTCACTAAGGTAAGCAAGCT	0.423																																																2	Unknown(2)	kidney(2)											129	109	115					14																	94129061		2203	4300	6503	SO:0001630	splice_region_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6753+1G>A	14.37:g.94129061G>A			B5MDL6|Q6ZUT7	Splice_Site	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.473222	0.84640	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8193	0.96586	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1409	93198814	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.869000	0.99810	2.690000	0.91761	0.555000	0.69702	.		0.423	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	Intron	A	94129061	G	A	94129061	5	1	535	1	0	0	0	0	0	0	1	0	8232	1275	44	2	6373	2	KIAA1409	14	94129061	Splice_Site	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	4926353	94129061	13220479	99	28728											
BCL11B	64919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	99640573	99640573	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr14:99640573C>T	ENST00000357195.3	-	4	2609	c.2600G>A	c.(2599-2601)aGc>aAc	p.S867N	BCL11B_ENST00000345514.2_Missense_Mutation_p.S796N|BCL11B_ENST00000443726.2_Missense_Mutation_p.S673N	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	867					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S867N(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTCCAGGGTGCTGTAGACGCT	0.612			T	TLX3	T-ALL																																		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	1	Substitution - Missense(1)	kidney(1)											96	78	84					14																	99640573		2203	4300	6503	SO:0001583	missense	64919			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2600G>A	14.37:g.99640573C>T	ENSP00000349723:p.Ser867Asn		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838497	0.71373	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.58506	0.33;0.33;0.33	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.142647	0.43110	D	0.000615	T	0.69958	0.3169	L	0.41710	1.295	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.99	T	0.73279	-0.4033	10	0.72032	D	0.01	-17.0203	18.2698	0.90064	0.0:1.0:0.0:0.0	.	796;867	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	N	867;796;673	ENSP00000349723:S867N;ENSP00000280435:S796N;ENSP00000387419:S673N	ENSP00000280435:S796N	S	-	2	0	BCL11B	98710326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.331000	0.79229	0.462000	0.41574	AGC		0.612	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		T	99640573	C	T	99640573	3	4	535	1	0	0	0	0	1	0	0	0	1364	797	28	2	88	2	BCL11B	14	99640573	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	5511512	99640573	7708967	100	28729											
HSP90AA1	3320	broad.mit.edu;hgsc.bcm.edu	37	14	102552583	102552583	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr14:102552583G>C	ENST00000216281.8	-	2	338	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.L167V|HSP90AA1_ENST00000441629.2_5'UTR	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	45					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.L167V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	AGCTCTCTCAGAAAGATCTCT	0.418																																																1	Substitution - Missense(1)	kidney(1)											52	54	53					14																	102552583		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.133C>G	14.37:g.102552583G>C	ENSP00000216281:p.Leu45Val		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	G	6.312	0.425664	0.11987	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000553585	T;T;T	0.81330	-1.48;-1.48;-1.48	3.79	1.85	0.25348	Heat shock protein Hsp90, conserved site (1);Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.64402	U	0.000014	D	0.89891	0.6846	M	0.92169	3.28	0.80722	D	1	P;P	0.52316	0.952;0.894	D;D	0.69307	0.958;0.963	D	0.89487	0.3754	10	0.87932	D	0	.	8.965	0.35872	0.3359:0.0:0.6641:0.0	.	167;45	P07900-2;P07900	.;HS90A_HUMAN	V	45;167;45	ENSP00000216281:L45V;ENSP00000335153:L167V;ENSP00000450712:L45V	ENSP00000216281:L45V	L	-	1	2	HSP90AA1	101622336	1.000000	0.71417	0.990000	0.47175	0.370000	0.29829	3.744000	0.55112	0.704000	0.31869	0.573000	0.79308	CTG		0.418	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		C	102552583	G	C	102552583	3	2	535	1	0	0	0	0	1	0	0	0	7403	933	33	4	2105	4	HSP90AA1	14	102552583	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	2912010	102552583	4796957	101	28730											
MKRN3	7681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	23811293	23811293	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:23811293T>A	ENST00000314520.3	+	1	840	c.364T>A	c.(364-366)Tct>Act	p.S122T	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	122					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S122T(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCACGACCTTTCTGGTCGGAA	0.597																																																1	Substitution - Missense(1)	kidney(1)											55	57	56					15																	23811293		2203	4300	6503	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.364T>A	15.37:g.23811293T>A	ENSP00000313881:p.Ser122Thr			Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.619053	0.46736	.	.	ENSG00000179455	ENST00000314520	T	0.34667	1.35	3.94	-2.6	0.06190	Zinc finger, CCCH-type (1);	0.428519	0.22993	N	0.053176	T	0.17450	0.0419	N	0.21508	0.67	0.09310	N	1	B	0.18461	0.028	B	0.16722	0.016	T	0.08269	-1.0730	10	0.33940	T	0.23	.	4.4107	0.11432	0.0:0.3106:0.3511:0.3382	.	122	Q13064	MKRN3_HUMAN	T	122	ENSP00000313881:S122T	ENSP00000313881:S122T	S	+	1	0	MKRN3	21362386	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	-0.376000	0.07465	-0.521000	0.06426	0.460000	0.39030	TCT		0.597	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		A	23811293	T	A	23811293	3	1	535	1	0	0	0	0	1	0	0	0	9610	1783	62	5	366	5	MKRN3	15	23811293	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08		23811293	78720099	102	28731											
RAD51	5888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41022091	41022091	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:41022091A>T	ENST00000267868.3	+	9	1083	c.815A>T	c.(814-816)cAa>cTa	p.Q272L	RAD51_ENST00000532743.1_Missense_Mutation_p.Q273L|RAD51_ENST00000423169.2_Intron|RAD51_ENST00000382643.3_Missense_Mutation_p.Q273L|RAD51_ENST00000530766.1_Intron|RAD51_ENST00000557850.1_Missense_Mutation_p.Q175L	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	272					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.Q272L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GTGGTAGCTCAAGTGGATGGA	0.448								Homologous recombination																																								1	Substitution - Missense(1)	kidney(1)											132	113	120					15																	41022091		2203	4300	6503	SO:0001583	missense	5888			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.815A>T	15.37:g.41022091A>T	ENSP00000267868:p.Gln272Leu		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684870	0.88639	.	.	ENSG00000051180	ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T	0.42900	0.96;0.96;0.96	5.03	5.03	0.67393	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.109676	0.64402	D	0.000005	T	0.58524	0.2128	M	0.84082	2.675	0.80722	D	1	P;P	0.41102	0.738;0.585	P;B	0.48770	0.589;0.405	T	0.65721	-0.6099	10	0.72032	D	0.01	-6.9135	14.9228	0.70854	1.0:0.0:0.0:0.0	.	273;272	Q6ZNA8;Q06609	.;RAD51_HUMAN	L	175;272;273;273	ENSP00000267868:Q272L;ENSP00000433924:Q273L;ENSP00000372088:Q273L	ENSP00000267868:Q272L	Q	+	2	0	RAD51	38809383	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.925000	0.92832	2.106000	0.64143	0.460000	0.39030	CAA		0.448	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		T	41022091	A	T	41022091	3	4	535	1	0	0	0	0	1	0	0	0	12991	130	5	5	970	5	RAD51	15	41022091	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	17210798	41022091	61509301	103	28732											
CYP19A1	1588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51514629	51514629	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:51514629G>A	ENST00000396402.1	-	5	698	c.545C>T	c.(544-546)tCg>tTg	p.S182L	CYP19A1_ENST00000405913.3_Missense_Mutation_p.S182L|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000557858.1_Missense_Mutation_p.S182L|CYP19A1_ENST00000559878.1_Missense_Mutation_p.S182L|CYP19A1_ENST00000396404.4_Missense_Mutation_p.S182L|CYP19A1_ENST00000260433.2_Missense_Mutation_p.S182L	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	182					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.S182L(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	CACATAGCCCGATTCATTGGT	0.522																																					Melanoma(142;1016 1807 39614 48966 51721)											1	Substitution - Missense(1)	kidney(1)											167	124	139					15																	51514629		2196	4293	6489	SO:0001583	missense	1588			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.545C>T	15.37:g.51514629G>A	ENSP00000379683:p.Ser182Leu		Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182565	0.38511	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.85	-1.3	0.09259	.	1.053100	0.07405	N	0.891338	T	0.36880	0.0983	N	0.03050	-0.425	0.09310	N	1	B;B	0.15930	0.015;0.002	B;B	0.11329	0.006;0.005	T	0.21415	-1.0246	10	0.14656	T	0.56	0.1565	7.741	0.28841	0.441:0.1109:0.4481:0.0	.	182;182	Q8IYJ7;P11511	.;CP19A_HUMAN	L	182	ENSP00000379683:S182L;ENSP00000260433:S182L;ENSP00000379685:S182L;ENSP00000390614:S182L;ENSP00000383930:S182L;ENSP00000391139:S182L	ENSP00000260433:S182L	S	-	2	0	CYP19A1	49301921	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.075000	0.11431	-0.031000	0.13781	0.655000	0.94253	TCG		0.522	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			A	51514629	G	A	51514629	3	1	535	1	0	0	0	0	1	0	0	0	4150	1059	37	1	990	1	CYP19A1	15	51514629	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	10492538	51514629	51016763	104	28733											
WDR72	256764	hgsc.bcm.edu;ucsc.edu	37	15	53907894	53907895	+	Frame_Shift_Ins	INS	-	-	TTCAT			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:53907894_53907895insTTCAT	ENST00000396328.1	-	15	2747_2748	c.2508_2509insATGAA	c.(2506-2511)gaagatfs	p.D837fs	WDR72_ENST00000557913.1_Frame_Shift_Ins_p.D834fs|WDR72_ENST00000360509.5_Frame_Shift_Ins_p.D837fs|WDR72_ENST00000559418.1_Frame_Shift_Ins_p.D847fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	837										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAGAAATTATCTTCATTCAAAG	0.342																																																0																																										SO:0001589	frameshift_variant	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2504_2508dupATGAA	15.37:g.53907895_53907899dupTTCAT	ENSP00000379619:p.Asp837fs		Q7Z3I3|Q8N8X2	Frame_Shift_Ins	INS	ENST00000396328.1	37	CCDS10151.1																																																																																				0.342	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		TTCAT	53907895	-	TTCAT	53907894	7	5	535	1	0	1	1	0	0	0	0	0	17327	913	32	0	823	0	WDR72	15	53907894	Frame_Shift_Ins	INS	-	TCGA-CJ-4920-01A-01D-1429-08	2393265	53907894	48623498	105	28734											
PRTG	283659	hgsc.bcm.edu;ucsc.edu	37	15	55971529	55971529	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:55971529delT	ENST00000389286.4	-	7	1135	c.1088delA	c.(1087-1089)aatfs	p.N363fs	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTTCCTTCCATTTTTCAACCA	0.398																																																0													118	109	112					15																	55971529		1837	4091	5928	SO:0001589	frameshift_variant	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1088delA	15.37:g.55971529delT	ENSP00000373937:p.Asn363fs			Frame_Shift_Del	DEL	ENST00000389286.4	37	CCDS42040.1																																																																																				0.398	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		-	55971529	T	-	55971529	7	5	535	1	0	1	0	1	0	0	0	0	12643	1493	52	0	2420	0	PRTG	15	55971529	Frame_Shift_Del	DEL	T	TCGA-CJ-4920-01A-01D-1429-08	2063635	55971529	46559863	106	28735											
CSPG4	1464	hgsc.bcm.edu	37	15	75982360	75982360	+	Missense_Mutation	SNP	G	G	A	rs200866227		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:75982360G>A	ENST00000308508.5	-	3	1138	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	349	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCAGGGAGGCATTGGTGGC	0.667																																																0													14	13	13					15																	75982360		2186	4278	6464	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1046C>T	15.37:g.75982360G>A	ENSP00000312506:p.Ala349Val		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	9.028	0.986482	0.18889	.	.	ENSG00000173546	ENST00000308508	T	0.78595	-1.19	5.26	-1.25	0.09405	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.407880	0.04170	N	0.324555	T	0.58921	0.2156	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41538	-0.9503	10	0.12766	T	0.61	.	7.2785	0.26297	0.4345:0.0:0.4544:0.1111	.	349	Q6UVK1	CSPG4_HUMAN	V	349	ENSP00000312506:A349V	ENSP00000312506:A349V	A	-	2	0	CSPG4	73769415	0.000000	0.05858	0.032000	0.17829	0.867000	0.49689	-0.051000	0.11885	-0.106000	0.12110	0.555000	0.69702	GCC		0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		A	75982360	G	A	75982360	3	1	535	1	0	0	0	0	1	0	0	0	3962	1203	42	2	5954	2	CSPG4	15	75982360	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	20010831	75982360	26549032	107	28736											
C15orf40	123207	hgsc.bcm.edu	37	15	83677271	83677271	+	Intron	DEL	A	A	-	rs373204607		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr15:83677271delA	ENST00000513601.2	-	3	374				C15orf40_ENST00000538348.2_Intron|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000304177.5_Intron|C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000565712.1_Intron			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40											large_intestine(3)|lung(2)|skin(1)	6						attttgtctcaaaaaaaaaaa	0.483																																																0													31	31	31					15																	83677271		2203	4300	6503	SO:0001627	intron_variant	123207			BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.366+28T>-	15.37:g.83677271delA			A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Frame_Shift_Del	DEL	ENST00000513601.2	37	CCDS32312.2																																																																																				0.483	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		-	83677271	A	-	83677271	6	5	535	0	1	1	0	1	0	0	0	0	1796	131	5	0		0	C15orf40	15	83677271	Intron	DEL	A	TCGA-CJ-4920-01A-01D-1429-08	7694911	83677271	18854121	108	28737											
PDIA2	64714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	336870	336870	+	Silent	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:336870T>A	ENST00000219406.6	+	10	1476	c.1458T>A	c.(1456-1458)acT>acA	p.T486T	PDIA2_ENST00000404312.1_Silent_p.T483T	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	486	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)	p.T486T(1)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACCTGGAGACTTTCTCCAAGT	0.647																																																1	Substitution - coding silent(1)	kidney(1)											13	15	14					16																	336870		1858	4078	5936	SO:0001819	synonymous_variant	64714			U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1458T>A	16.37:g.336870T>A			A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	37	CCDS42089.1																																																																																				0.647	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		A	336870	T	A	336870	2	1	535	1	0	0	0	0	0	0	0	1	11670	1596	56	5		5	PDIA2	16	336870	Silent	SNP	T	TCGA-CJ-4920-01A-01D-1429-08		336870	90017883	109	28738											
AXIN1	8312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	396564	396564	+	Silent	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:396564G>A	ENST00000262320.3	-	2	833	c.462C>T	c.(460-462)ggC>ggT	p.G154G	AXIN1_ENST00000354866.3_Silent_p.G154G|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	154	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.G154G(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGGACACGATGCCATTGTTAT	0.552											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - coding silent(1)	kidney(1)											111	107	109					16																	396564		2203	4300	6503	SO:0001819	synonymous_variant	8312			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.462C>T	16.37:g.396564G>A		588	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	CCDS10405.1																																																																																				0.552	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			A	396564	G	A	396564	2	1	535	1	0	0	0	0	0	0	0	1	1236	1306	46	2		2	AXIN1	16	396564	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	59694	396564	89958189	110	28739											
GSPT1	2935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	11971401	11971401	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:11971401C>T	ENST00000563468.1	-	10	1077	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000564790.1_5'Flank|GSPT1_ENST00000439887.2_Missense_Mutation_p.V488I|GSPT1_ENST00000420576.2_Missense_Mutation_p.V351I|GSPT1_ENST00000434724.2_Missense_Mutation_p.V489I			P15170	ERF3A_HUMAN	G1 to S phase transition 1	351					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)	p.V351I(1)|p.V489I(1)		breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TCAGTCTCTACATCATCGGAA	0.393																																																2	Substitution - Missense(2)	kidney(2)											64	62	62					16																	11971401		2027	4211	6238	SO:0001583	missense	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1051G>A	16.37:g.11971401C>T	ENSP00000454351:p.Val351Ile		J3KQG6|Q96GF2	Missense_Mutation	SNP	ENST00000563468.1	37	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579414	0.46006	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.62788	0.0;0.0;0.0	5.32	5.32	0.75619	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.64402	U	0.000001	T	0.59376	0.2189	L	0.45581	1.43	0.80722	D	1	B;B;B	0.13145	0.007;0.007;0.001	B;B;B	0.20384	0.029;0.029;0.004	T	0.57533	-0.7795	10	0.59425	D	0.04	-13.6414	17.5891	0.87991	0.0:1.0:0.0:0.0	.	488;485;351	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	I	489;488;351	ENSP00000398131:V489I;ENSP00000408399:V488I;ENSP00000399539:V351I	ENSP00000399539:V351I	V	-	1	0	GSPT1	11878902	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.459000	0.80802	2.490000	0.84030	0.585000	0.79938	GTA		0.393	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		T	11971401	C	T	11971401	3	4	535	1	0	0	0	0	1	0	0	0	6828	478	17	2	464	2	GSPT1	16	11971401	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	11574837	11971401	78383352	111	28740											
BCKDK	10295	hgsc.bcm.edu;ucsc.edu	37	16	31123280	31123280	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:31123280delC	ENST00000394951.1	+	12	1649	c.1026delC	c.(1024-1026)gacfs	p.D342fs	BCKDK_ENST00000287507.3_Frame_Shift_Del_p.D312fs|BCKDK_ENST00000219794.6_Frame_Shift_Del_p.D342fs|BCKDK_ENST00000394950.3_Frame_Shift_Del_p.D342fs|AC135050.1_ENST00000517000.2_RNA			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	342	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GCACACAGGACCCCCGGATCA	0.602																																																0													76	70	72					16																	31123280		2197	4300	6497	SO:0001589	frameshift_variant	10295			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.1026delC	16.37:g.31123280delC	ENSP00000378405:p.Asp342fs		A8MY43|Q6FGL4|Q96G95|Q96IN5	Frame_Shift_Del	DEL	ENST00000394951.1	37	CCDS10705.1																																																																																				0.602	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		-	31123280	C	-	31123280	7	5	535	1	0	1	0	1	0	0	0	0	1361	506	18	0	1064	0	BCKDK	16	31123280	Frame_Shift_Del	DEL	C	TCGA-CJ-4920-01A-01D-1429-08	19151879	31123280	59231473	112	28741											
OGFOD1	55239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	56485531	56485531	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:56485531G>C	ENST00000566157.1	+	1	130	c.7G>C	c.(7-9)Ggg>Cgg	p.G3R	OGFOD1_ENST00000568397.1_Missense_Mutation_p.G3R|NUDT21_ENST00000300291.5_5'Flank	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	3					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)	p.G3R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AGAGATGAATGGGAAGCGGCC	0.572																																																1	Substitution - Missense(1)	kidney(1)											88	103	98					16																	56485531		2198	4300	6498	SO:0001583	missense	55239			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.7G>C	16.37:g.56485531G>C	ENSP00000457258:p.Gly3Arg		H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822102	0.71028	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.28	5.28	0.74379	.	0.333224	0.33092	N	0.005299	T	0.47820	0.1466	L	0.47716	1.5	0.40206	D	0.977576	P	0.35383	0.498	B	0.34242	0.178	T	0.43845	-0.9366	9	0.07030	T	0.85	-1.2382	15.9409	0.79754	0.0:0.0:1.0:0.0	.	3	Q8N543	OGFD1_HUMAN	R	3	.	ENSP00000337196:G3R	G	+	1	0	OGFOD1	55043032	0.999000	0.42202	0.801000	0.32222	0.664000	0.39144	5.450000	0.66626	2.758000	0.94735	0.563000	0.77884	GGG		0.572	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		C	56485531	G	C	56485531	3	2	535	1	0	0	0	0	1	0	0	0	10843	1348	47	4	9	4	OGFOD1	16	56485531	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	25362251	56485531	33869222	113	28742											
DUS2L	54920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68071947	68071947	+	Silent	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr16:68071947T>A	ENST00000565263.1	+	3	515	c.21T>A	c.(19-21)tcT>tcA	p.S7S	DUS2_ENST00000358896.6_Silent_p.S7S|DUS2_ENST00000432752.1_Silent_p.S7S	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	7					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)	p.S7S(1)									ATAGCCTCTCTCTGTGTTACC	0.423																																																1	Substitution - coding silent(1)	kidney(1)											136	126	130					16																	68071947		2198	4300	6498	SO:0001819	synonymous_variant	54920				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.21T>A	16.37:g.68071947T>A			A8K3G3|Q4H4D9	Silent	SNP	ENST00000565263.1	37	CCDS10859.1																																																																																				0.423	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		A	68071947	T	A	68071947	2	1	535	1	0	0	0	0	0	0	0	1	4808	1538	54	5		5	DUS2L	16	68071947	Silent	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	11586416	68071947	22282806	114	28743											
RPH3AL	9501	broad.mit.edu;hgsc.bcm.edu	37	17	169255	169255	+	Missense_Mutation	SNP	C	C	T	rs532892676		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:169255C>T	ENST00000331302.7	-	5	614	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	RPH3AL_ENST00000536489.2_Missense_Mutation_p.G103S|RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000323434.8_Missense_Mutation_p.G103S|RP11-1260E13.1_ENST00000570501.1_RNA|RP11-1260E13.1_ENST00000572998.1_RNA	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	103	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)	p.G103S(1)		NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CCCAGGAAGCCCAGCACCTCC	0.642																																																1	Substitution - Missense(1)	kidney(1)											95	83	87					17																	169255		2196	4297	6493	SO:0001583	missense	9501				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"Synaptotagmins"	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.307G>A	17.37:g.169255C>T	ENSP00000328977:p.Gly103Ser		D3DTG7|Q9BSB3	Missense_Mutation	SNP	ENST00000331302.7	37	CCDS10994.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374020	0.95923	.	.	ENSG00000181031	ENST00000323434;ENST00000331302;ENST00000536489	T;T;T	0.76839	-1.05;-1.05;-1.05	5.74	5.74	0.90152	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	M	0.68952	2.095	0.53688	D	0.999973	P;D;D	0.69078	0.941;0.997;0.977	P;D;P	0.64776	0.77;0.929;0.83	D	0.86816	0.2001	10	0.59425	D	0.04	-36.017	18.9865	0.92773	0.0:1.0:0.0:0.0	.	103;103;103	A8K7D5;Q9UNE2-2;Q9UNE2	.;.;RPH3L_HUMAN	S	103	ENSP00000319210:G103S;ENSP00000328977:G103S;ENSP00000438224:G103S	ENSP00000319210:G103S	G	-	1	0	RPH3AL	169255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.938000	0.63519	2.718000	0.92993	0.632000	0.83419	GGC		0.642	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		T	169255	C	T	169255	3	4	535	1	0	0	0	0	1	0	0	0	13558	623	22	2	664	2	RPH3AL	17	169255	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08		169255	81025955	115	28744											
CAMTA2	23125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4872277	4872277	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:4872277C>T	ENST00000348066.3	-	22	3594		c.e22-1		SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000414043.3_Intron|SPAG7_ENST00000206020.3_5'Flank|SPAG7_ENST00000575142.1_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000361571.5_Splice_Site|CAMTA2_ENST00000381311.5_Splice_Site|CAMTA2_ENST00000572543.1_Splice_Site|CAMTA2_ENST00000358183.4_Splice_Site|SPAG7_ENST00000573366.1_5'Flank	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2						cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAAGGAGCCTCTGGTGAAAGA	0.577																																																1	Unknown(1)	kidney(1)											60	59	59					17																	4872277		2203	4300	6503	SO:0001630	splice_region_variant	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3471-1G>A	17.37:g.4872277C>T			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Splice_Site	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232241	0.58777	.	.	ENSG00000108509	ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4661	0.67485	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAMTA2	4813001	1.000000	0.71417	0.991000	0.47740	0.803000	0.45373	5.579000	0.67457	2.268000	0.75426	0.563000	0.77884	.		0.577	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099	Intron	T	4872277	C	T	4872277	5	4	535	1	0	0	0	0	0	0	1	0	2616	927	32	2	196	2	CAMTA2	17	4872277	Splice_Site	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	4703022	4872277	76322933	116	28745											
PMP22	5376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15142905	15142905	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:15142905T>C	ENST00000395938.2	-	4	396	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	PMP22_ENST00000395936.1_Missense_Mutation_p.T68A|PMP22_ENST00000426385.3_Missense_Mutation_p.T68A|PMP22_ENST00000312280.3_Missense_Mutation_p.T68A|snoU13_ENST00000458745.1_RNA|PMP22_ENST00000494511.1_Missense_Mutation_p.H8R	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	68					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T68A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		AGGATCATGGTGGCCTGGACA	0.562																																																1	Substitution - Missense(1)	kidney(1)											89	66	74					17																	15142905		2203	4300	6503	SO:0001583	missense	5376			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.202A>G	17.37:g.15142905T>C	ENSP00000379269:p.Thr68Ala		Q8WV01	Missense_Mutation	SNP	ENST00000395938.2	37	CCDS11168.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.879951	0.33162	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385;ENST00000395936	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.61	5.61	0.85477	.	0.248699	0.40908	D	0.000985	D	0.90397	0.6994	M	0.74647	2.275	0.30734	N	0.746946	P	0.44090	0.826	P	0.47603	0.551	D	0.90653	0.4584	10	0.62326	D	0.03	-63.2727	11.8054	0.52152	0.1313:0.0:0.0:0.8687	.	68	Q01453	PMP22_HUMAN	A	68	ENSP00000379269:T68A;ENSP00000308937:T68A;ENSP00000409824:T68A;ENSP00000379268:T68A	ENSP00000308937:T68A	T	-	1	0	PMP22	15083630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.207000	0.42788	2.261000	0.74972	0.533000	0.62120	ACC		0.562	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130378.1	NM_000304		C	15142905	T	C	15142905	3	2	535	1	0	0	0	0	1	0	0	0	12141	1696	59	3	288	3	PMP22	17	15142905	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	10270628	15142905	66052305	117	28746											
TANC2	26115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61498351	61498351	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:61498351G>A	ENST00000424789.2	+	25	5012	c.5008G>A	c.(5008-5010)Gat>Aat	p.D1670N	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.D1680N	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1670					in utero embryonic development (GO:0001701)			p.D1680N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AATCGTAGGGGATGGAAGGCC	0.542																																																2	Substitution - Missense(2)	kidney(2)											79	83	82					17																	61498351		2187	4287	6474	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5008G>A	17.37:g.61498351G>A	ENSP00000387593:p.Asp1670Asn		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249416	0.80024	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.71461	-0.57;-0.57	5.58	5.58	0.84498	.	0.060071	0.64402	D	0.000005	T	0.75708	0.3886	N	0.24115	0.695	0.54753	D	0.999987	D	0.63880	0.993	D	0.70935	0.971	T	0.77156	-0.2691	10	0.54805	T	0.06	.	18.124	0.89580	0.0:0.0:1.0:0.0	.	1670	Q9HCD6	TANC2_HUMAN	N	1680;1670	ENSP00000374171:D1680N;ENSP00000387593:D1670N	ENSP00000374171:D1680N	D	+	1	0	TANC2	58852083	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	8.894000	0.92506	2.797000	0.96272	0.561000	0.74099	GAT		0.542	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			A	61498351	G	A	61498351	3	1	535	1	0	0	0	0	1	0	0	0	15550	1174	41	2	5106	2	TANC2	17	61498351	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	46355446	61498351	19696859	118	28747											
FTSJ3	11325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61898808	61898808	+	IGR	DEL	A	A	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:61898808delA	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Frame_Shift_Del_p.S599fs	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTCCCCGAAGAAGCCTCTGTT	0.527																																																0													105	106	106					17																	61898808		2203	4300	6503	SO:0001628	intergenic_variant	117246			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61898808delA			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Frame_Shift_Del	DEL	ENST00000578681.1	37	CCDS32704.1																																																																																				0.527	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		-	61898808	A	-	61898808	6	5	535	0	1	1	0	1	0	0	0	0	6091	246	9	0		0	FTSJ3	17	61898808	IGR	DEL	A	TCGA-CJ-4920-01A-01D-1429-08	400457	61898808	19296402	119	28748											
GNA13	10672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	63010386	63010386	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:63010386T>G	ENST00000439174.2	-	4	1368	c.1123A>C	c.(1123-1125)Atg>Ctg	p.M375L	GNA13_ENST00000541118.1_Missense_Mutation_p.M280L	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	375					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)	p.M375L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CACTGTAGCATAAGCTGCTTG	0.373																																																1	Substitution - Missense(1)	kidney(1)											98	80	86					17																	63010386		2203	4300	6503	SO:0001583	missense	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.1123A>C	17.37:g.63010386T>G	ENSP00000400717:p.Met375Leu		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767994	0.31320	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.85013	-1.8;-1.93	5.93	5.93	0.95920	.	0.065806	0.85682	D	0.000000	D	0.85548	0.5722	N	0.13272	0.32	0.80722	D	1	P	0.45348	0.856	P	0.60949	0.881	D	0.88160	0.2857	10	0.87932	D	0	.	16.0558	0.80805	0.0:0.0:0.0:1.0	.	375	Q14344	GNA13_HUMAN	L	375;280;350	ENSP00000400717:M375L;ENSP00000439647:M280L	ENSP00000239138:M350L	M	-	1	0	GNA13	60440848	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	ATG		0.373	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		G	63010386	T	G	63010386	3	3	535	1	0	0	0	0	1	0	0	0	6503	1406	49	5	14	5	GNA13	17	63010386	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	1111578	63010386	18184824	120	28749											
RECQL5	9400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73657711	73657711	+	Silent	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:73657711A>T	ENST00000317905.5	-	5	1008	c.849T>A	c.(847-849)ggT>ggA	p.G283G	RECQL5_ENST00000584999.1_Silent_p.G283G|RECQL5_ENST00000423245.2_Silent_p.G256G|RECQL5_ENST00000340830.5_Silent_p.G283G|RECQL5_ENST00000420326.2_Silent_p.G283G	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	283	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.G256G(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGCGTTCACACCCCTGCAGC	0.537								Other identified genes with known or suspected DNA repair function																																								1	Substitution - coding silent(1)	kidney(1)											97	90	92					17																	73657711		2203	4300	6503	SO:0001819	synonymous_variant	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.849T>A	17.37:g.73657711A>T			Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	CCDS42380.1																																																																																				0.537	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		T	73657711	A	T	73657711	2	4	535	1	0	0	0	0	0	0	0	1	13209	146	6	5		5	RECQL5	17	73657711	Silent	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	10647325	73657711	7537499	121	28750											
AZI1	22994	broad.mit.edu	37	17	79169644	79169644	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr17:79169644C>A	ENST00000269392.4	-	16	2263	c.2016G>T	c.(2014-2016)caG>caT	p.Q672H	AZI1_ENST00000450824.2_Missense_Mutation_p.Q669H|AZI1_ENST00000374782.3_Missense_Mutation_p.Q669H|RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000575907.1_Missense_Mutation_p.Q672H	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		672					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.Q669H(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGCTCGTGCTGCGCCTGTG	0.647																																																2	Substitution - Missense(2)	kidney(2)											122	100	107					17																	79169644		2203	4300	6503	SO:0001583	missense	22994																														ENST00000269392.4:c.2016G>T	17.37:g.79169644C>A	ENSP00000269392:p.Gln672His		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37		.	.	.	.	.	.	.	.	.	.	C	14.03	2.412816	0.42817	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17213	2.31;2.29;2.31	4.11	3.14	0.36123	.	0.133178	0.52532	D	0.000068	T	0.35307	0.0927	M	0.63843	1.955	0.50813	D	0.999893	D;D;D;D	0.89917	1.0;0.994;0.999;0.994	D;P;D;P	0.74348	0.98;0.892;0.983;0.892	T	0.05451	-1.0884	10	0.51188	T	0.08	-23.0159	11.4653	0.50235	0.0:0.9103:0.0:0.0897	.	669;672;669;669	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	H	669;669;672	ENSP00000393583:Q669H;ENSP00000363914:Q669H;ENSP00000269392:Q672H	ENSP00000269392:Q672H	Q	-	3	2	AZI1	76784239	1.000000	0.71417	0.995000	0.50966	0.054000	0.15201	4.246000	0.58740	0.944000	0.37579	0.467000	0.42956	CAG		0.647	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			A	79169644	C	A	79169644	3	1	535	1	0	0	0	0	1	0	0	0	1240	796	28	4	1279	4	AZI1	17	79169644	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	5511933	79169644	2025566	122	28751											
EMILIN2	84034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	2890714	2890714	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr18:2890714A>G	ENST00000254528.3	+	4	748	c.589A>G	c.(589-591)Acg>Gcg	p.T197A		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	197					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.T197A(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACTCACAAGGACGGTTCTTGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											79	79	79					18																	2890714		2203	4300	6503	SO:0001583	missense	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.589A>G	18.37:g.2890714A>G	ENSP00000254528:p.Thr197Ala		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631668	0.46944	.	.	ENSG00000132205	ENST00000254528	T	0.35789	1.29	5.41	4.27	0.50696	.	0.248741	0.34507	N	0.003908	T	0.20577	0.0495	L	0.31845	0.965	0.27416	N	0.95444	B	0.28439	0.212	B	0.22601	0.04	T	0.14062	-1.0486	10	0.09590	T	0.72	-11.8256	6.677	0.23100	0.7766:0.0:0.077:0.1464	.	197	Q9BXX0	EMIL2_HUMAN	A	197	ENSP00000254528:T197A	ENSP00000254528:T197A	T	+	1	0	EMILIN2	2880714	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	4.857000	0.62939	2.039000	0.60335	0.455000	0.32223	ACG		0.522	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		G	2890714	A	G	2890714	3	3	535	1	0	0	0	0	1	0	0	0	5096	275	10	3	603	3	EMILIN2	18	2890714	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08		2890714	75186534	123	28752											
MYO9B	4650	hgsc.bcm.edu	37	19	17311226	17311226	+	Missense_Mutation	SNP	G	G	A	rs117099942	byFrequency	TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:17311226G>A	ENST00000594824.1	+	25	4510	c.4363G>A	c.(4363-4365)Ggc>Agc	p.G1455S	MYO9B_ENST00000397274.2_Missense_Mutation_p.G1455S|MYO9B_ENST00000595618.1_Missense_Mutation_p.G1455S			Q13459	MYO9B_HUMAN	myosin IXB	1455	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CATGAAGAAGGGCCTGGAAGG	0.582													G|||	59	0.0117812	0.003	0.0173	5008	,	,		17504	0.0		0.0398	False		,,,				2504	0.0031															0								G	SER/GLY,SER/GLY	29,4039		0,29,2005	23	29	27		4363,4363	-0.4	0.1	19	dbSNP_132	27	332,8034		10,312,3861	yes	missense,missense	MYO9B	NM_001130065.1,NM_004145.3	56,56	10,341,5866	AA,AG,GG		3.9684,0.7129,2.9033	benign,benign	1455/2023,1455/2158	17311226	361,12073	2034	4183	6217	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4363G>A	19.37:g.17311226G>A	ENSP00000471367:p.Gly1455Ser		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		35	0.016025641025641024	2	0.0040650406504065045	4	0.011049723756906077	0	0.0	29	0.03825857519788918	G	6.898	0.535158	0.13188	0.007129	0.039684	ENSG00000099331	ENST00000397274	D	0.83914	-1.78	4.76	-0.356	0.12583	.	1.469460	0.04433	N	0.369629	T	0.29914	0.0748	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.43909	-0.9362	10	0.08837	T	0.75	.	4.1447	0.10210	0.452:0.1879:0.3601:0.0	.	1455;1455;1455;1461	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	S	1455	ENSP00000380444:G1455S	ENSP00000380444:G1455S	G	+	1	0	MYO9B	17172226	0.235000	0.23794	0.059000	0.19551	0.404000	0.30871	0.710000	0.25748	0.164000	0.19529	0.491000	0.48974	GGC		0.582	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			A	17311226	G	A	17311226	3	1	535	1	0	0	0	0	1	0	0	0	10087	1232	43	2	4457	2	MYO9B	19	17311226	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08		17311226	41817757	124	28753											
ATP13A1	57130	broad.mit.edu;hgsc.bcm.edu	37	19	19767887	19767887	+	Silent	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:19767887C>A	ENST00000357324.6	-	5	848	c.822G>T	c.(820-822)gtG>gtT	p.V274V	ATP13A1_ENST00000291503.5_Silent_p.V156V|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	274						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.V274V(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTCGAACGCCACCAGCATGG	0.587																																					Esophageal Squamous(142;920 1789 9047 14684 24777)											1	Substitution - coding silent(1)	kidney(1)											51	44	46					19																	19767887		2203	4300	6503	SO:0001819	synonymous_variant	57130			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.822G>T	19.37:g.19767887C>A			B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	CCDS32970.2																																																																																				0.587	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		A	19767887	C	A	19767887	2	1	535	1	0	0	0	0	0	0	0	1	1123	581	21	4		4	ATP13A1	19	19767887	Silent	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	2456661	19767887	39361096	125	28754											
CEBPG	1054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	33870405	33870405	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:33870405C>T	ENST00000284000.4	+	2	922	c.260C>T	c.(259-261)gCa>gTa	p.A87V	CEBPG_ENST00000585933.2_Missense_Mutation_p.A87V	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	87	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				B cell differentiation (GO:0030183)|enucleate erythrocyte differentiation (GO:0043353)|immune response (GO:0006955)|liver development (GO:0001889)|mRNA metabolic process (GO:0016071)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA repair (GO:0045739)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A87V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					AAGCAGAAAGCACAAGACACA	0.448																																																1	Substitution - Missense(1)	kidney(1)											93	82	86					19																	33870405		2203	4300	6503	SO:0001583	missense	1054			U20240	CCDS12432.1	19q13.2	2013-01-10				ENSG00000153879		"basic leucine zipper proteins"	1837	protein-coding gene	gene with protein product		138972				1884998	Standard	NM_001806		Approved	GPE1BP, IG/EBP-1	uc021usd.1	P53567		ENST00000284000.4:c.260C>T	19.37:g.33870405C>T	ENSP00000284000:p.Ala87Val		B2R946|Q5U052	Missense_Mutation	SNP	ENST00000284000.4	37	CCDS12432.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935752	0.73442	.	.	ENSG00000153879	ENST00000284000	T	0.43688	0.94	5.87	5.87	0.94306	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53408	-0.8443	10	0.28530	T	0.3	-12.7959	19.5705	0.95413	0.0:1.0:0.0:0.0	.	87	P53567	CEBPG_HUMAN	V	87	ENSP00000284000:A87V	ENSP00000284000:A87V	A	+	2	0	CEBPG	38562245	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	7.711000	0.84669	2.941000	0.99782	0.655000	0.94253	GCA		0.448	CEBPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451427.2	NM_001806		T	33870405	C	T	33870405	3	4	535	1	0	0	0	0	1	0	0	0	3205	710	25	2	262	2	CEBPG	19	33870405	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	14102518	33870405	25258578	126	28755											
GRAMD1A	57655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35501012	35501012	+	Silent	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:35501012G>T	ENST00000317991.5	+	5	534	c.342G>T	c.(340-342)ctG>ctT	p.L114L	GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Silent_p.L114L|GRAMD1A_ENST00000411896.2_Silent_p.L107L|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000599564.1_Silent_p.L201L	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	114	GRAM.					integral component of membrane (GO:0016021)		p.L114L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTGCGCCCTGCAGCGTGAGA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											86	92	90					19																	35501012		1951	4127	6078	SO:0001819	synonymous_variant	57655			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.342G>T	19.37:g.35501012G>T			A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	CCDS42546.1																																																																																				0.652	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		T	35501012	G	T	35501012	2	4	535	1	0	0	0	0	0	0	0	1	6749	1306	46	4		4	GRAMD1A	19	35501012	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	1630607	35501012	23627971	127	28756											
NPHS1	4868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36340513	36340513	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:36340513A>C	ENST00000378910.5	-	6	650	c.651T>G	c.(649-651)tgT>tgG	p.C217W	NPHS1_ENST00000353632.6_Missense_Mutation_p.C217W|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	217	Ig-like C2-type 2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.C217W(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAGACGCCTCACAGACCAGCA	0.542																																																1	Substitution - Missense(1)	kidney(1)											77	75	76					19																	36340513		2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.651T>G	19.37:g.36340513A>C	ENSP00000368190:p.Cys217Trp		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155184	0.57259	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.99445	-5.91;-5.91	5.53	-0.0682	0.13757	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.098510	0.64402	D	0.000001	D	0.99055	0.9676	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98406	1.0570	10	0.87932	D	0	-4.9108	9.2423	0.37504	0.5294:0.0:0.4706:0.0	.	217	O60500	NPHN_HUMAN	W	217	ENSP00000368190:C217W;ENSP00000343634:C217W	ENSP00000343634:C217W	C	-	3	2	NPHS1	41032353	0.752000	0.28338	0.993000	0.49108	0.788000	0.44548	0.340000	0.19892	0.068000	0.16574	0.482000	0.46254	TGT		0.542	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			C	36340513	A	C	36340513	3	2	535	1	0	0	0	0	1	0	0	0	10584	157	6	5	3170	5	NPHS1	19	36340513	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	839501	36340513	22788470	128	28757											
SULT2A1	6822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	48385434	48385434	+	Silent	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:48385434A>G	ENST00000222002.3	-	3	518	c.379T>C	c.(379-381)Ttg>Ctg	p.L127L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	127					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)	p.L127L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	CCAGACACCAAAACATCTCTG	0.338																																																1	Substitution - coding silent(1)	kidney(1)											71	73	73					19																	48385434		2203	4300	6503	SO:0001819	synonymous_variant	6822			X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"Sulfotransferases, cytosolic"	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.379T>C	19.37:g.48385434A>G				Silent	SNP	ENST00000222002.3	37	CCDS12707.1																																																																																				0.338	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		G	48385434	A	G	48385434	2	3	535	1	0	0	0	0	0	0	0	1	15386	11	1	3		3	SULT2A1	19	48385434	Silent	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	12044921	48385434	10743549	129	28758											
MYH14	79784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50753042	50753042	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:50753042C>G	ENST00000596571.1	+	12	1594	c.1594C>G	c.(1594-1596)Ctc>Gtc	p.L532V	MYH14_ENST00000262269.8_Missense_Mutation_p.L540V|MYH14_ENST00000376970.2_Missense_Mutation_p.L532V|MYH14_ENST00000601313.1_Missense_Mutation_p.L540V|MYH14_ENST00000425460.1_Missense_Mutation_p.L540V|MYH14_ENST00000598205.1_Missense_Mutation_p.L540V|MYH14_ENST00000440075.2_Missense_Mutation_p.L540V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	532	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L540V(1)|p.L532V(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGACTTTGGCCTCGACCTGCA	0.632																																																2	Substitution - Missense(2)	kidney(2)											162	140	147					19																	50753042		2203	4300	6503	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1594C>G	19.37:g.50753042C>G	ENSP00000472819:p.Leu532Val		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627385	0.46944	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	4.37	3.33	0.38152	Myosin head, motor domain (3);	.	.	.	.	D	0.89068	0.6610	L	0.56769	1.78	0.80722	D	1	D;P;P	0.60160	0.987;0.756;0.712	P;B;B	0.57911	0.829;0.343;0.232	D	0.88816	0.3295	9	0.87932	D	0	.	9.5117	0.39080	0.0:0.8916:0.0:0.1084	.	540;532;540	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	V	532;540;532;540;532;540	ENSP00000406273:L540V;ENSP00000366169:L532V;ENSP00000407879:L540V;ENSP00000262269:L540V	ENSP00000262269:L540V	L	+	1	0	MYH14	55444854	1.000000	0.71417	0.994000	0.49952	0.590000	0.36582	1.518000	0.35877	1.162000	0.42619	0.655000	0.94253	CTC		0.632	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		G	50753042	C	G	50753042	3	3	535	1	0	0	0	0	1	0	0	0	10035	681	24	4	1668	4	MYH14	19	50753042	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	2367608	50753042	8375941	130	28759											
NLRP4	147945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56369055	56369055	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr19:56369055A>G	ENST00000301295.6	+	3	718	c.296A>G	c.(295-297)tAt>tGt	p.Y99C	NLRP4_ENST00000587891.1_Missense_Mutation_p.Y24C|NLRP4_ENST00000346986.5_Missense_Mutation_p.Y99C	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	99				Y -> H (in Ref. 4; AAL88672). {ECO:0000305}.	inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.Y99C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACAAAGACCTATCAAGCTCAC	0.423																																																1	Substitution - Missense(1)	kidney(1)											89	85	86					19																	56369055		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.296A>G	19.37:g.56369055A>G	ENSP00000301295:p.Tyr99Cys		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849380	0.32699	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.76709	-1.04;-1.0	3.62	2.61	0.31194	DEATH-like (1);	.	.	.	.	T	0.77671	0.4165	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.63346	-0.6658	9	0.49607	T	0.09	.	5.6804	0.17771	0.8764:0.0:0.1236:0.0	.	24;99	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	C	99	ENSP00000301295:Y99C;ENSP00000344787:Y99C	ENSP00000301295:Y99C	Y	+	2	0	NLRP4	61060867	0.075000	0.21258	0.002000	0.10522	0.001000	0.01503	1.800000	0.38833	0.757000	0.33036	-0.250000	0.11733	TAT		0.423	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		G	56369055	A	G	56369055	3	3	535	1	0	0	0	0	1	0	0	0	10481	449	16	3	302	3	NLRP4	19	56369055	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	5616013	56369055	2759928	131	28760											
RIMS4	140730	broad.mit.edu;hgsc.bcm.edu	37	20	43386410	43386410	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr20:43386410C>T	ENST00000372851.3	-	4	418	c.352G>A	c.(352-354)Gat>Aat	p.D118N	RIMS4_ENST00000541604.2_Missense_Mutation_p.D119N	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	118	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.D118N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ATCTCCACATCCCCTGGAAGA	0.567																																																1	Substitution - Missense(1)	kidney(1)											90	73	79					20																	43386410		2203	4300	6503	SO:0001583	missense	140730				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.352G>A	20.37:g.43386410C>T	ENSP00000361942:p.Asp118Asn		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349420	0.95830	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.22539	1.95;1.96	5.91	5.91	0.95273	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.78801	2.425	0.80722	D	1	P;D	0.53462	0.918;0.96	P;P	0.57371	0.783;0.819	T	0.42682	-0.9437	10	0.87932	D	0	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	119;118	E1P613;Q9H426	.;RIMS4_HUMAN	N	118;119	ENSP00000361942:D118N;ENSP00000439287:D119N	ENSP00000361942:D118N	D	-	1	0	RIMS4	42819824	1.000000	0.71417	0.995000	0.50966	0.520000	0.34377	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GAT		0.567	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		T	43386410	C	T	43386410	3	4	535	1	0	0	0	0	1	0	0	0	13376	855	30	2	469	2	RIMS4	20	43386410	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08		43386410	19639110	132	28761											
TMPRSS15	5651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	19698767	19698767	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr21:19698767A>T	ENST00000284885.3	-	16	1936	c.1903T>A	c.(1903-1905)Tat>Aat	p.Y635N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	635						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y635N(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCCAAGTGATAGCCAGTAGTA	0.418																																																1	Substitution - Missense(1)	kidney(1)											210	183	192					21																	19698767		2203	4300	6503	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1903T>A	21.37:g.19698767A>T	ENSP00000284885:p.Tyr635Asn		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186420	0.57909	.	.	ENSG00000154646	ENST00000284885	D	0.87412	-2.25	5.27	5.27	0.74061	.	0.249952	0.35291	N	0.003303	D	0.90992	0.7167	M	0.72118	2.19	0.29737	N	0.837413	D	0.76494	0.999	D	0.67103	0.949	D	0.87438	0.2393	9	.	.	.	.	8.084	0.30760	0.909:0.0:0.091:0.0	.	635	P98073	ENTK_HUMAN	N	635	ENSP00000284885:Y635N	.	Y	-	1	0	TMPRSS15	18620638	0.969000	0.33509	0.981000	0.43875	0.936000	0.57629	2.862000	0.48388	2.110000	0.64415	0.528000	0.53228	TAT		0.418	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19698767	A	T	19698767	3	4	535	1	0	0	0	0	1	0	0	0	16251	420	15	5	1196	5	TMPRSS15	21	19698767	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08		19698767	28431128	133	28762											
CCT8	10694	broad.mit.edu;hgsc.bcm.edu	37	21	30442596	30442596	+	Missense_Mutation	SNP	T	T	A	rs527759092		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr21:30442596T>A	ENST00000286788.4	-	2	329	c.123A>T	c.(121-123)caA>caT	p.Q41H	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.Q22H	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	41					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)	p.Q41H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TACGAGTGGTTTGGGCAAGCT	0.348																																																1	Substitution - Missense(1)	kidney(1)											82	77	78					21																	30442596		2202	4300	6502	SO:0001583	missense	10694			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.123A>T	21.37:g.30442596T>A	ENSP00000286788:p.Gln41His		A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	CCDS33528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.77|13.77	2.336206|2.336206	0.41398|0.41398	.|.	.|.	ENSG00000156261|ENSG00000156261	ENST00000431234|ENST00000389159;ENST00000286788;ENST00000542732	.|T;T	.|0.79454	.|-1.27;-1.27	4.74|4.74	-6.05|-6.05	0.02172|0.02172	.|.	.|0.051406	.|0.85682	.|D	.|0.000000	T|T	0.70316|0.70316	0.3210|0.3210	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.21905	.|0.062;0.011;0.009;0.013	.|B;B;B;B	.|0.23018	.|0.043;0.029;0.017;0.016	T|T	0.48043|0.48043	-0.9069|-0.9069	5|10	.|0.66056	.|D	.|0.02	-11.7103|-11.7103	15.9644|15.9644	0.79956|0.79956	0.0:0.2471:0.0:0.7529|0.0:0.2471:0.0:0.7529	.|.	.|22;41;41;41	.|B4DEM7;Q53HU0;G5E9B2;P50990	.|.;.;.;TCPQ_HUMAN	I|H	33|41;41;22	.|ENSP00000286788:Q41H;ENSP00000444984:Q22H	.|ENSP00000286788:Q41H	K|Q	-|-	2|3	0|2	CCT8|CCT8	29364467|29364467	0.050000|0.050000	0.20438|0.20438	0.537000|0.537000	0.28052|0.28052	0.990000|0.990000	0.78478|0.78478	-0.791000|-0.791000	0.04599|0.04599	-1.466000|-1.466000	0.01897|0.01897	0.459000|0.459000	0.35465|0.35465	AAA|CAA		0.348	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			A	30442596	T	A	30442596	3	1	535	1	0	0	0	0	1	0	0	0	2962	1838	64	5	1579	5	CCT8	21	30442596	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	10743829	30442596	17687299	134	28763											
DOPEY2	9980	hgsc.bcm.edu;ucsc.edu	37	21	37617853	37617854	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr21:37617853_37617854delTC	ENST00000399151.3	+	19	3660_3661	c.3575_3576delTC	c.(3574-3576)ttcfs	p.F1192fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1192					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTGAGTCGTTCTCCAGCGACG	0.629																																																0																																										SO:0001589	frameshift_variant	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3575_3576delTC	21.37:g.37617855_37617856delTC	ENSP00000382104:p.Phe1192fs		D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Del	DEL	ENST00000399151.3	37	CCDS13643.1																																																																																				0.629	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		-	37617854	TC	-	37617853	7	5	535	1	0	1	0	1	0	0	0	0	4710	1783	62	0	3645	0	DOPEY2	21	37617853	Frame_Shift_Del	DEL	TC	TCGA-CJ-4920-01A-01D-1429-08	7175257	37617853	10512042	135	28764											
CCDC116	164592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21989453	21989453	+	Silent	SNP	C	C	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr22:21989453C>T	ENST00000292779.3	+	4	1262	c.1101C>T	c.(1099-1101)cgC>cgT	p.R367R	CCDC116_ENST00000607942.1_Silent_p.R367R	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	367								p.R367R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTTCCCCCCGCCCCACAGTCT	0.612																																																1	Substitution - coding silent(1)	kidney(1)											31	32	32					22																	21989453		2203	4300	6503	SO:0001819	synonymous_variant	164592			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1101C>T	22.37:g.21989453C>T			Q8N9Y9	Silent	SNP	ENST00000292779.3	37	CCDS13791.1																																																																																				0.612	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		T	21989453	C	T	21989453	2	4	535	1	0	0	0	0	0	0	0	1	2755	726	26	2		2	CCDC116	22	21989453	Silent	SNP	C	TCGA-CJ-4920-01A-01D-1429-08		21989453	29315113	136	28765											
SBF1	6305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50903133	50903133	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chr22:50903133A>G	ENST00000390679.3	-	14	1650	c.1466T>C	c.(1465-1467)gTa>gCa	p.V489A	SBF1_ENST00000348911.6_Missense_Mutation_p.V490A|SBF1_ENST00000380817.3_Missense_Mutation_p.V489A			O95248	MTMR5_HUMAN	SET binding factor 1	489					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V489A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCCTCTGTACCTTGTGCAT	0.701																																																2	Substitution - Missense(2)	kidney(2)											58	66	64					22																	50903133		2043	4176	6219	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1466T>C	22.37:g.50903133A>G	ENSP00000375097:p.Val489Ala		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37		.	.	.	.	.	.	.	.	.	.	A	21.0	4.083980	0.76642	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.88509	-2.38;-2.39;-2.39	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000001	D	0.90930	0.7149	M	0.70275	2.135	0.80722	D	1	D;D;P	0.55385	0.969;0.971;0.835	P;P;B	0.52514	0.701;0.654;0.435	D	0.91946	0.5567	10	0.87932	D	0	.	12.7759	0.57448	1.0:0.0:0.0:0.0	.	489;490;489	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	A	489;490;500;499;489	ENSP00000370196:V489A;ENSP00000252027:V490A;ENSP00000375097:V489A	ENSP00000336522:V499A	V	-	2	0	SBF1	49249999	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	8.789000	0.91839	1.691000	0.51100	0.260000	0.18958	GTA		0.701	SBF1-201	KNOWN	basic	protein_coding	protein_coding				G	50903133	A	G	50903133	3	3	535	1	0	0	0	0	1	0	0	0	13864	391	14	3	4327	3	SBF1	22	50903133	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	28913680	50903133	401433	137	28766											
CDKL5	6792	broad.mit.edu;ucsc.edu	37	X	18622812	18622812	+	Missense_Mutation	SNP	G	G	A	rs372629988		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:18622812G>A	ENST00000379989.3	+	13	2053	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	CDKL5_ENST00000379996.3_Missense_Mutation_p.E590K|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	590					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.E590K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGCACCTCACGAATCTTTTTC	0.498																																																1	Substitution - Missense(1)	kidney(1)						G	LYS/GLU,LYS/GLU	0,3835		0,0,1632,571	157	153	154		1768,1768	6	0.9	X		154	1,6727		0,1,2427,1872	no	missense,missense	CDKL5	NM_001037343.1,NM_003159.2	56,56	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	590/1031,590/1031	18622812	1,10562	2203	4300	6503	SO:0001583	missense	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1768G>A	X.37:g.18622812G>A	ENSP00000369325:p.Glu590Lys		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063033	0.76187	0.0	1.49E-4	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.75477	-0.94;-0.94	6.03	6.03	0.97812	.	0.088660	0.85682	D	0.000000	T	0.79799	0.4508	L	0.36672	1.1	0.51233	D	0.999917	D	0.76494	0.999	P	0.58721	0.844	T	0.81311	-0.0990	10	0.87932	D	0	-22.2267	19.4775	0.94995	0.0:0.0:1.0:0.0	.	590	O76039	CDKL5_HUMAN	K	590	ENSP00000369332:E590K;ENSP00000369325:E590K	ENSP00000369325:E590K	E	+	1	0	CDKL5	18532733	1.000000	0.71417	0.944000	0.38274	0.479000	0.33129	9.230000	0.95299	2.554000	0.86153	0.600000	0.82982	GAA		0.498	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		A	18622812	G	A	18622812	3	1	535	1	0	0	0	0	1	0	0	0	3159	1059	37	1	1810	1	CDKL5	23	18622812	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08		18622812	136647748	138	28767											
TFE3	7030	broad.mit.edu	37	X	48900725	48900725	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:48900725C>A	ENST00000315869.7	-	1	287	c.28G>T	c.(28-30)Gat>Tat	p.D10Y		NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	10					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D10Y(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTACGCCATCCCGAGCTGGT	0.721			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																		Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	2	Substitution - Missense(2)	kidney(2)											6	7	7					X																	48900725		2131	4139	6270	SO:0001583	missense	7030			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.28G>T	X.37:g.48900725C>A	ENSP00000314129:p.Asp10Tyr		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842623	0.51057	.	.	ENSG00000068323	ENST00000315869	T	0.17528	2.27	4.34	3.48	0.39840	.	0.229755	0.22442	N	0.060005	T	0.16171	0.0389	N	0.08118	0	0.32710	N	0.511696	D	0.55605	0.972	P	0.59643	0.861	T	0.16100	-1.0414	10	0.87932	D	0	-5.8924	7.2519	0.26154	0.0:0.8765:0.0:0.1235	.	10	P19532	TFE3_HUMAN	Y	10	ENSP00000314129:D10Y	ENSP00000314129:D10Y	D	-	1	0	TFE3	48787669	1.000000	0.71417	0.964000	0.40570	0.550000	0.35303	3.188000	0.50958	0.859000	0.35456	-0.435000	0.05868	GAT		0.721	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		A	48900725	C	A	48900725	3	1	535	1	0	0	0	0	1	0	0	0	15805	855	30	4	1739	4	TFE3	23	48900725	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	30277913	48900725	106369835	139	28768											
SMC1A	8243	hgsc.bcm.edu;ucsc.edu	37	X	53430820	53430820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:53430820delT	ENST00000322213.4	-	14	2329	c.2202delA	c.(2200-2202)aaafs	p.K734fs		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	734					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCAGCTTGGATTTTTCCTACA	0.493																																																0													100	90	93					X																	53430820		2203	4300	6503	SO:0001589	frameshift_variant	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2202delA	X.37:g.53430820delT	ENSP00000323421:p.Lys734fs		O14995|Q16351|Q2M228	Frame_Shift_Del	DEL	ENST00000322213.4	37	CCDS14352.1																																																																																				0.493	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		-	53430820	T	-	53430820	7	5	535	1	0	1	0	1	0	0	0	0	14787	1490	52	0	1547	0	SMC1A	23	53430820	Frame_Shift_Del	DEL	T	TCGA-CJ-4920-01A-01D-1429-08	4530095	53430820	101839740	140	28769											
MAGEE1	57692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	75650469	75650469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:75650469G>T	ENST00000361470.2	+	1	2424	c.2146G>T	c.(2146-2148)Gaa>Taa	p.E716*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	716						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E716*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTTTTTTGAGGAAGCTGCTGC	0.512																																																2	Substitution - Nonsense(2)	kidney(2)											56	43	47					X																	75650469		2203	4300	6503	SO:0001587	stop_gained	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2146G>T	X.37:g.75650469G>T	ENSP00000354912:p.Glu716*		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Nonsense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	38	6.769034	0.97825	.	.	ENSG00000198934	ENST00000361470	.	.	.	2.26	1.38	0.22167	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	4.1705	0.10327	0.2145:0.0:0.7855:0.0	.	.	.	.	X	716	.	ENSP00000354912:E716X	E	+	1	0	MAGEE1	75566873	0.999000	0.42202	0.109000	0.21407	0.929000	0.56500	1.865000	0.39479	0.377000	0.24735	0.544000	0.68410	GAA		0.512	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		T	75650469	G	T	75650469	4	4	535	1	0	0	0	0	0	1	0	0	9187	1175	41	4	2148	4	MAGEE1	23	75650469	Nonsense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	22219649	75650469	79620091	141	28770											
PCDH11X	27328	broad.mit.edu;hgsc.bcm.edu	37	X	91873325	91873325	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:91873325C>A	ENST00000373094.1	+	7	4275	c.3430C>A	c.(3430-3432)Ctc>Atc	p.L1144I	PCDH11X_ENST00000406881.1_Missense_Mutation_p.L1136I|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L1107I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L1107I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L1126I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L1134I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1144					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1144I(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCAAGAATGTCTCATCTATGG	0.468																																					NSCLC(38;925 1092 2571 38200 45895)											1	Substitution - Missense(1)	kidney(1)											39	35	36					X																	91873325		2203	4297	6500	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3430C>A	X.37:g.91873325C>A	ENSP00000362186:p.Leu1144Ile		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203115	0.58234	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.52983	0.66;0.67;0.64;0.66;0.69;0.64	4.63	3.53	0.40419	.	0.000000	0.35151	U	0.003410	T	0.42765	0.1217	L	0.43152	1.355	0.26843	N	0.968325	P;P;P;P;P	0.42735	0.778;0.778;0.778;0.778;0.788	B;B;B;B;B	0.43536	0.423;0.423;0.423;0.423;0.243	T	0.38908	-0.9639	10	0.49607	T	0.09	.	11.7924	0.52078	0.0:0.8909:0.0:0.1091	.	1107;1126;1136;1134;1144	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	I	1144;1134;1107;1126;1136;1144;1107	ENSP00000362186:L1144I;ENSP00000362189:L1134I;ENSP00000362180:L1107I;ENSP00000355105:L1126I;ENSP00000384758:L1136I;ENSP00000298274:L1107I	ENSP00000298274:L1107I	L	+	1	0	PCDH11X	91759981	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.657000	0.46724	1.873000	0.54277	0.466000	0.42574	CTC		0.468	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91873325	C	A	91873325	3	1	535	1	0	0	0	0	1	0	0	0	11510	913	32	4	3578	4	PCDH11X	23	91873325	Missense_Mutation	SNP	C	TCGA-CJ-4920-01A-01D-1429-08	16222856	91873325	63397235	142	28771											
ARMCX6	54470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	100871360	100871360	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:100871360G>T	ENST00000361910.4	-	3	595	c.251C>A	c.(250-252)aCt>aAt	p.T84N	ARMCX6_ENST00000539247.1_Missense_Mutation_p.T84N|ARMCX6_ENST00000538627.1_Missense_Mutation_p.T84N|ARMCX6_ENST00000497931.1_Intron	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	84						integral component of membrane (GO:0016021)		p.T84N(1)		endometrium(3)|kidney(1)|liver(2)|lung(3)	9						CCTGTCCTCAGTGCCACCTGG	0.532																																																1	Substitution - Missense(1)	kidney(1)											83	80	81					X																	100871360		2203	4300	6503	SO:0001583	missense	54470			BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"Armadillo repeat containing"	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.251C>A	X.37:g.100871360G>T	ENSP00000354708:p.Thr84Asn		Q9NWJ3	Missense_Mutation	SNP	ENST00000361910.4	37	CCDS14488.1	.	.	.	.	.	.	.	.	.	.	.	7.481	0.648652	0.14516	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.48201	0.82;0.82;0.82	3.56	0.648	0.17801	.	0.512564	0.16518	N	0.210926	T	0.28366	0.0701	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14364	-1.0475	10	0.46703	T	0.11	-1.636	5.3292	0.15922	0.0:0.1781:0.3714:0.4505	.	84	Q7L4S7	ARMX6_HUMAN	N	84	ENSP00000354708:T84N;ENSP00000444537:T84N;ENSP00000440648:T84N	ENSP00000354708:T84N	T	-	2	0	ARMCX6	100758016	0.048000	0.20356	0.001000	0.08648	0.949000	0.60115	0.071000	0.14594	0.020000	0.15106	-0.352000	0.07741	ACT		0.532	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057562.1	NM_019007		T	100871360	G	T	100871360	3	4	535	1	0	0	0	0	1	0	0	0	963	1029	36	4	655	4	ARMCX6	23	100871360	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	8998035	100871360	54399200	143	28772											
ARMCX5	64860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101857826	101857826	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:101857826A>T	ENST00000604957.1	+	1	3379	c.757A>T	c.(757-759)Acc>Tcc	p.T253S	ARMCX5_ENST00000541409.1_Missense_Mutation_p.T253S|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.T253S|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.T253S|ARMCX5_ENST00000537008.1_Missense_Mutation_p.T253S|ARMCX5_ENST00000372742.1_Missense_Mutation_p.T253S	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	253								p.T253S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTGGTTGAGACCTTGATTGA	0.468																																																1	Substitution - Missense(1)	kidney(1)											104	95	98					X																	101857826		2203	4300	6503	SO:0001583	missense	64860				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.757A>T	X.37:g.101857826A>T	ENSP00000474720:p.Thr253Ser		B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	A	6.048	0.377250	0.11466	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	3.9	2.69	0.31865	.	0.000000	0.43579	D	0.000553	T	0.15262	0.0368	N	0.19112	0.55	0.09310	N	1	D	0.67145	0.996	P	0.58172	0.834	T	0.12041	-1.0563	10	0.11794	T	0.64	-7.5862	6.4582	0.21942	0.7519:0.2481:0.0:0.0	.	253	Q6P1M9	ARMX5_HUMAN	S	253	ENSP00000246174:T253S;ENSP00000439001:T253S;ENSP00000446385:T253S;ENSP00000445851:T253S;ENSP00000361827:T253S	ENSP00000246174:T253S	T	+	1	0	ARMCX5	101744482	0.279000	0.24239	0.010000	0.14722	0.690000	0.40134	0.959000	0.29240	0.642000	0.30620	0.486000	0.48141	ACC		0.468	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		T	101857826	A	T	101857826	3	4	535	1	0	0	0	0	1	0	0	0	962	275	10	5	759	5	ARMCX5	23	101857826	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	986466	101857826	53412734	144	28773											
ALG13	79868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	110964871	110964871	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:110964871T>A	ENST00000394780.3	+	12	1379	c.1367T>A	c.(1366-1368)gTg>gAg	p.V456E	ALG13_ENST00000251943.4_Missense_Mutation_p.V352E	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	456					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.V456E(1)|p.V352E(1)		endometrium(2)|lung(10)|skin(1)	13						CCCTATAAGGTGCTCAAAGCC	0.368																																																2	Substitution - Missense(2)	kidney(2)											81	66	70					X																	110964871		1567	3582	5149	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1367T>A	X.37:g.110964871T>A	ENSP00000378260:p.Val456Glu		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579760	0.86645	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	T;T;T	0.73152	0.33;-0.72;0.35	5.92	5.92	0.95590	.	0.000000	0.50627	U	0.000101	D	0.86096	0.5851	M	0.86502	2.82	0.46521	D	0.999081	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.88432	0.3036	10	0.72032	D	0.01	-6.7109	15.2722	0.73712	0.0:0.0:0.0:1.0	.	378;456;352	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	E	352;456;352	ENSP00000251943:V352E;ENSP00000378260:V456E;ENSP00000427093:V352E	ENSP00000251943:V352E	V	+	2	0	ALG13	110851527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.676000	0.74498	1.990000	0.58119	0.481000	0.45027	GTG		0.368	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		A	110964871	T	A	110964871	3	1	535	1	0	0	0	0	1	0	0	0	515	1696	59	5	1555	5	ALG13	23	110964871	Missense_Mutation	SNP	T	TCGA-CJ-4920-01A-01D-1429-08	9107045	110964871	44305689	145	28774											
HTR2C	3358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	113965887	113965887	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:113965887G>C	ENST00000276198.1	+	4	948	c.220G>C	c.(220-222)Gtg>Ctg	p.V74L	HTR2C_ENST00000371951.1_Missense_Mutation_p.V74L|HTR2C_ENST00000371950.3_Missense_Mutation_p.V74L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	74					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V74L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAACATCCTTGTGATCATGGC	0.443																																																1	Substitution - Missense(1)	kidney(1)											212	163	179					X																	113965887		2203	4300	6503	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.220G>C	X.37:g.113965887G>C	ENSP00000276198:p.Val74Leu		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033427	0.75504	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	D;D;D	0.84070	-1.8;-1.8;-1.8	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93216	0.7839	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94660	0.7847	10	0.87932	D	0	.	15.3884	0.74723	0.0:0.0:1.0:0.0	.	74;74	B1AMW4;P28335	.;5HT2C_HUMAN	L	74	ENSP00000276198:V74L;ENSP00000361019:V74L;ENSP00000361018:V74L	ENSP00000276198:V74L	V	+	1	0	HTR2C	113872143	1.000000	0.71417	0.625000	0.29200	0.528000	0.34623	7.791000	0.85805	2.520000	0.84964	0.594000	0.82650	GTG		0.443	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		C	113965887	G	C	113965887	3	2	535	1	0	0	0	0	1	0	0	0	7445	1377	48	4	226	4	HTR2C	23	113965887	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	3001016	113965887	41304673	146	28775											
LONRF3	79836	broad.mit.edu;hgsc.bcm.edu	37	X	118108850	118108850	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:118108850G>T	ENST00000371628.3	+	1	138	c.107G>T	c.(106-108)gGc>gTc	p.G36V	LONRF3_ENST00000304778.7_Missense_Mutation_p.G36V|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	36							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.G36V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GTAGACATGGGCCCCCACCCA	0.647																																																2	Substitution - Missense(2)	kidney(2)											20	19	19					X																	118108850		2193	4291	6484	SO:0001583	missense	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.107G>T	X.37:g.118108850G>T	ENSP00000360690:p.Gly36Val		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	G	6.542	0.468271	0.12461	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.81163	-1.46;-1.46;-1.19	4.58	0.535	0.17133	.	0.696518	0.12552	N	0.458979	T	0.72277	0.3440	L	0.36672	1.1	0.09310	N	0.999991	P;B	0.37207	0.587;0.099	B;B	0.41894	0.369;0.082	T	0.62129	-0.6919	10	0.54805	T	0.06	-11.2316	6.5201	0.22271	0.1681:0.276:0.5559:0.0	.	36;36	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	V	36	ENSP00000360691:G36V;ENSP00000307732:G36V;ENSP00000360690:G36V	ENSP00000307732:G36V	G	+	2	0	LONRF3	117992878	0.030000	0.19436	0.001000	0.08648	0.011000	0.07611	0.550000	0.23345	0.048000	0.15891	0.529000	0.55759	GGC		0.647	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		T	118108850	G	T	118108850	3	4	535	1	0	0	0	0	1	0	0	0	8898	1203	42	4	109	4	LONRF3	23	118108850	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	4142963	118108850	37161710	147	28776											
TFDP3	51270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	132351883	132351883	+	Silent	SNP	G	G	A	rs369336277		TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:132351883G>A	ENST00000310125.4	-	1	493	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	135					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G135G(1)|p.G75G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CGACCAGCTCGCCCACCACTT	0.552																																																2	Substitution - coding silent(2)	kidney(2)											83	77	79					X																	132351883		2200	4298	6498	SO:0001819	synonymous_variant	51270			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.405C>T	X.37:g.132351883G>A			Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	CCDS14636.2																																																																																				0.552	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		A	132351883	G	A	132351883	2	1	535	1	0	0	0	0	0	0	0	1	15804	1074	38	1		1	TFDP3	23	132351883	Silent	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	14243033	132351883	22918677	148	28777											
GABRE	2564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151123262	151123262	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:151123262A>T	ENST00000370328.3	-	9	1485	c.1432T>A	c.(1432-1434)Tac>Aac	p.Y478N	GABRE_ENST00000370325.1_3'UTR|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	478					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y478N(1)|p.Y365N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCAGGCGGTAGACATGGATG	0.517																																																2	Substitution - Missense(2)	kidney(2)											44	43	43					X																	151123262		2203	4300	6503	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1432T>A	X.37:g.151123262A>T	ENSP00000359353:p.Tyr478Asn		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357104	0.24598	.	.	ENSG00000102287	ENST00000370328	D	0.84800	-1.9	5.68	3.18	0.36537	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.435911	0.19357	N	0.116247	T	0.81842	0.4908	N	0.17800	0.525	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.73987	-0.3809	10	0.18276	T	0.48	.	5.5804	0.17247	0.6483:0.1777:0.0:0.1739	.	478	P78334	GBRE_HUMAN	N	478	ENSP00000359353:Y478N	ENSP00000359353:Y478N	Y	-	1	0	GABRE	150873918	0.999000	0.42202	0.415000	0.26534	0.349000	0.29174	2.048000	0.41278	0.234000	0.21139	-0.391000	0.06502	TAC		0.517	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		T	151123262	A	T	151123262	3	4	535	1	0	0	0	0	1	0	0	0	6172	420	15	5	92	5	GABRE	23	151123262	Missense_Mutation	SNP	A	TCGA-CJ-4920-01A-01D-1429-08	18771379	151123262	4147298	149	28778											
IRAK1	3654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153278674	153278674	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4920-01A-01D-1429-08	TCGA-CJ-4920-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	12bf3338-f541-45a9-9fb7-e84931ba5ed8	3879491a-93eb-40d1-83ba-d90b98dabffe	g.chrX:153278674G>T	ENST00000369980.3	-	12	1917	c.1750C>A	c.(1750-1752)Cag>Aag	p.Q584K	IRAK1_ENST00000369974.2_Missense_Mutation_p.Q505K|IRAK1_ENST00000393682.1_Missense_Mutation_p.Q565K|IRAK1_ENST00000429936.2_Missense_Mutation_p.Q580K|IRAK1_ENST00000393687.2_Missense_Mutation_p.Q554K|IRAK1_ENST00000477274.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	584					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.Q584K(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACGGGCTGGTTGGGGCCT	0.682																																																2	Substitution - Missense(2)	kidney(2)											16	17	17					X																	153278674		2199	4281	6480	SO:0001583	missense	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1750C>A	X.37:g.153278674G>T	ENSP00000358997:p.Gln584Lys		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.76|13.76	2.334569|2.334569	0.41297|0.41297	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000444254;ENST00000443220|ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	.|T;T;T;T;T	.|0.23754	.|1.89;1.89;1.89;1.89;1.89	5.32|5.32	4.45|4.45	0.53987|0.53987	.|.	.|0.432286	.|0.20015	.|N	.|0.101021	T|T	0.23370|0.23370	0.0565|0.0565	L|L	0.34521|0.34521	1.04|1.04	0.28485|0.28485	N|N	0.914787|0.914787	.|P;P;P	.|0.51449	.|0.705;0.908;0.945	.|B;B;P	.|0.50440	.|0.359;0.437;0.641	T|T	0.02950|0.02950	-1.1090|-1.1090	5|10	.|0.06099	.|T	.|0.92	-17.9117|-17.9117	11.1336|11.1336	0.48362|0.48362	0.0:0.1811:0.8189:0.0|0.0:0.1811:0.8189:0.0	.|.	.|505;584;554	.|P51617-4;P51617;P51617-2	.|.;IRAK1_HUMAN;.	Q|K	139;332|584;505;565;554;580	.|ENSP00000358997:Q584K;ENSP00000358991:Q505K;ENSP00000377287:Q565K;ENSP00000377291:Q554K;ENSP00000392662:Q580K	.|ENSP00000358991:Q505K	P|Q	-|-	2|1	0|0	IRAK1|IRAK1	152931868|152931868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.386000|0.386000	0.30323|0.30323	2.522000|2.522000	0.45572|0.45572	1.017000|1.017000	0.39495|0.39495	0.600000|0.600000	0.82982|0.82982	CCA|CAG		0.682	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			T	153278674	G	T	153278674	3	4	535	1	0	0	0	0	1	0	0	0	7823	1357	47	4	400	4	IRAK1	23	153278674	Missense_Mutation	SNP	G	TCGA-CJ-4920-01A-01D-1429-08	2155412	153278674	1991886	150	28779											
DNAJC16	23341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	15893684	15893684	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr1:15893684G>A	ENST00000375847.3	+	14	2033	c.1869G>A	c.(1867-1869)atG>atA	p.M623I	DNAJC16_ENST00000483270.1_3'UTR|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Missense_Mutation_p.M623I	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	623					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.M623I(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAGGCCACATGAATGTGGTCC	0.453																																																1	Substitution - Missense(1)	kidney(1)											172	151	158					1																	15893684		2203	4300	6503	SO:0001583	missense	23341			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1869G>A	1.37:g.15893684G>A	ENSP00000365007:p.Met623Ile		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902365	0.33628	.	.	ENSG00000116138	ENST00000375847;ENST00000375849	T;T	0.70282	-0.44;-0.47	5.67	5.67	0.87782	.	0.070501	0.85682	D	0.000000	T	0.53449	0.1797	N	0.17872	0.535	0.26362	N	0.977022	B	0.10296	0.003	B	0.06405	0.002	T	0.26430	-1.0103	10	0.10636	T	0.68	-36.5115	14.0109	0.64495	0.0:0.1514:0.8486:0.0	.	623	Q9Y2G8	DJC16_HUMAN	I	623	ENSP00000365007:M623I;ENSP00000365009:M623I	ENSP00000365007:M623I	M	+	3	0	DNAJC16	15766271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.154000	0.42291	2.676000	0.91093	0.655000	0.94253	ATG		0.453	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		A	15893684	G	A	15893684	3	1	536	1	0	0	0	0	1	0	0	0	4637	1290	45	2	1919	2	DNAJC16	1	15893684	Missense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08		15893684	233356937	1	28780											
MFSD2A	84879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40430907	40430907	+	Silent	SNP	C	C	T	rs115805986	byFrequency	TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr1:40430907C>T	ENST00000372809.5	+	4	560	c.417C>T	c.(415-417)gcC>gcT	p.A139A	MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Silent_p.A126A|MFSD2A_ENST00000420632.2_5'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	139					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.A126A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGCCCCTGGCCGTCATTGCCT	0.587													C|||	107	0.0213658	0.0	0.0	5008	,	,		21083	0.0139		0.0	False		,,,				2504	0.0951															1	Substitution - coding silent(1)	kidney(1)						C	,	0,4406		0,0,2203	160	136	144		417,378	2.5	0.9	1	dbSNP_132	144	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MFSD2A	NM_001136493.1,NM_032793.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	139/544,126/531	40430907	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.417C>T	1.37:g.40430907C>T			A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	ENST00000372809.5	37	CCDS44118.1																																																																																				0.587	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		T	40430907	C	T	40430907	2	4	536	1	0	0	0	0	0	0	0	1	9532	639	23	1		1	MFSD2A	1	40430907	Silent	SNP	C	TCGA-CJ-4923-01A-01D-1429-08	24537223	40430907	208819714	2	28781											
SELENBP1	8991	broad.mit.edu;ucsc.edu	37	1	151339307	151339307	+	Silent	SNP	C	C	T	rs146898667	byFrequency	TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr1:151339307C>T	ENST00000368868.5	-	6	646	c.555G>A	c.(553-555)ccG>ccA	p.P185P	SELENBP1_ENST00000435071.1_Silent_p.P121P|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Silent_p.P227P|SELENBP1_ENST00000447402.3_Silent_p.P123P	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	185					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.P185P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATAGCCCAACGGTGCAGCAC	0.577													C|||	3	0.000599042	0.0015	0.0	5008	,	,		18092	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											235	193	207					1																	151339307		2203	4300	6503	SO:0001819	synonymous_variant	8991			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.555G>A	1.37:g.151339307C>T			A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	CCDS995.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	0.081	-1.184018	0.01620	.	.	ENSG00000143416	ENST00000424475	.	.	.	5.32	-10.6	0.00265	.	.	.	.	.	T	0.26738	0.0654	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63010	-0.6732	4	.	.	.	-0.6142	9.151	0.36962	0.0672:0.3002:0.5268:0.1058	.	.	.	.	H	146	.	.	R	-	2	0	SELENBP1	149605931	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	-9.080000	0.00014	-4.422000	0.00050	-1.434000	0.01081	CGT		0.577	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			T	151339307	C	T	151339307	2	4	536	1	0	0	0	0	0	0	0	1	14020	523	19	1		1	SELENBP1	1	151339307	Silent	SNP	C	TCGA-CJ-4923-01A-01D-1429-08	110908400	151339307	97911314	3	28782											
KHK	3795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27320391	27320391	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr2:27320391G>T	ENST00000260599.6	+	5	951	c.438G>T	c.(436-438)caG>caT	p.Q146H	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.Q146H	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	146					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)	p.Q146H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCGGAGCAGGTGAAGATGC	0.622																																																2	Substitution - Missense(2)	kidney(2)											66	58	61					2																	27320391		2203	4300	6503	SO:0001583	missense	3795				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.438G>T	2.37:g.27320391G>T	ENSP00000260599:p.Gln146His		Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690920	0.68271	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.77489	-1.1;-1.1;-0.03	5.93	4.15	0.48705	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	M	0.75447	2.3	0.54753	D	0.999988	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.975;1.0;0.957;1.0	D	0.86101	0.1556	10	0.66056	D	0.02	-0.0129	10.7427	0.46162	0.1537:0.0:0.8463:0.0	.	146;146;146;146	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	H	146;146;191	ENSP00000260599:Q146H;ENSP00000260598:Q146H;ENSP00000404741:Q191H	ENSP00000260598:Q146H	Q	+	3	2	KHK	27173895	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	5.218000	0.65257	0.866000	0.35629	0.655000	0.94253	CAG		0.622	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			T	27320391	G	T	27320391	3	4	536	1	0	0	0	0	1	0	0	0	8151	991	35	4	595	4	KHK	2	27320391	Missense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08		27320391	215878982	4	28783											
NRXN1	9378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	50724674	50724674	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr2:50724674C>G	ENST00000406316.2	-	14	4152	c.2676G>C	c.(2674-2676)gaG>gaC	p.E892D	NRXN1_ENST00000406859.3_Missense_Mutation_p.E892D|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.E932D|NRXN1_ENST00000402717.3_Missense_Mutation_p.E884D|NRXN1_ENST00000401669.2_Missense_Mutation_p.E892D|NRXN1_ENST00000405472.3_Missense_Mutation_p.E884D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	892					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.E933D(1)|p.E892D(1)|p.E932D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGCATTAAGCTCACAGTAAT	0.443																																																3	Substitution - Missense(3)	kidney(3)											126	116	119					2																	50724674		1997	4167	6164	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2676G>C	2.37:g.50724674C>G	ENSP00000384311:p.Glu892Asp		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248198	0.80024	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.58	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	M	0.77616	2.38	0.37190	D	0.903906	P;P;B	0.44690	0.748;0.841;0.38	P;B;B	0.48704	0.587;0.401;0.109	T	0.80562	-0.1327	10	0.22706	T	0.39	.	9.9704	0.41749	0.0:0.846:0.0:0.154	.	932;892;884	Q9ULB1-3;F8WB18;A7E294	.;.;.	D	932;892;884;892;933;884;892	ENSP00000385142:E932D;ENSP00000384311:E892D;ENSP00000434015:E884D;ENSP00000385017:E892D;ENSP00000385434:E884D;ENSP00000385681:E892D	ENSP00000385017:E892D	E	-	3	2	NRXN1	50578178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.641000	0.37197	1.568000	0.49683	0.655000	0.94253	GAG		0.443	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			G	50724674	C	G	50724674	3	3	536	1	0	0	0	0	1	0	0	0	10667	796	28	4	2150	4	NRXN1	2	50724674	Missense_Mutation	SNP	C	TCGA-CJ-4923-01A-01D-1429-08	23404283	50724674	192474699	5	28784											
GPR45	11250	broad.mit.edu	37	2	105859013	105859013	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr2:105859013C>T	ENST00000258456.1	+	1	814	c.698C>T	c.(697-699)tCg>tTg	p.S233L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S233L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CACAACCAGTCGGACAGCCTG	0.652																																																1	Substitution - Missense(1)	kidney(1)											76	79	78					2																	105859013		2203	4300	6503	SO:0001583	missense	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.698C>T	2.37:g.105859013C>T	ENSP00000258456:p.Ser233Leu		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802494	0.70682	.	.	ENSG00000135973	ENST00000258456	T	0.41400	1.0	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.141190	0.46758	D	0.000272	T	0.33904	0.0879	N	0.14661	0.345	0.28533	N	0.912485	P	0.46987	0.888	P	0.44561	0.453	T	0.27123	-1.0083	10	0.52906	T	0.07	-21.0116	18.125	0.89583	0.0:1.0:0.0:0.0	.	233	Q9Y5Y3	GPR45_HUMAN	L	233	ENSP00000258456:S233L	ENSP00000258456:S233L	S	+	2	0	GPR45	105225445	0.423000	0.25482	0.977000	0.42913	0.821000	0.46438	3.862000	0.56009	2.373000	0.80994	0.462000	0.41574	TCG		0.652	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		T	105859013	C	T	105859013	3	4	536	1	0	0	0	0	1	0	0	0	6698	893	31	1	700	1	GPR45	2	105859013	Missense_Mutation	SNP	C	TCGA-CJ-4923-01A-01D-1429-08	55134339	105859013	137340360	6	28785											
COBLL1	22837	broad.mit.edu;hgsc.bcm.edu	37	2	165551129	165551129	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr2:165551129A>C	ENST00000392717.2	-	13	3005	c.3001T>G	c.(3001-3003)Tct>Gct	p.S1001A	COBLL1_ENST00000194871.6_Missense_Mutation_p.S1030A|COBLL1_ENST00000375458.2_Missense_Mutation_p.S925A|COBLL1_ENST00000409184.3_Missense_Mutation_p.S963A|COBLL1_ENST00000342193.4_Missense_Mutation_p.S963A			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1001						extracellular vesicular exosome (GO:0070062)		p.S963A(1)		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						TGTGGAACAGAGTGAGGCATT	0.478																																																1	Substitution - Missense(1)	kidney(1)											50	52	51					2																	165551129		2203	4300	6503	SO:0001583	missense	22837			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.3001T>G	2.37:g.165551129A>C	ENSP00000376478:p.Ser1001Ala		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	A	0.004	-2.377489	0.00207	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.41	0.128	0.14733	.	1.790450	0.02433	N	0.083814	T	0.33933	0.0880	L	0.50333	1.59	0.09310	N	1	B;B;B	0.22146	0.031;0.065;0.052	B;B;B	0.17433	0.013;0.018;0.016	T	0.08911	-1.0699	9	0.08837	T	0.75	0.0323	5.6518	0.17620	0.4094:0.2436:0.347:0.0	.	1001;1030;963	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	A	925;963;963;1001;1030	.	ENSP00000194871:S1030A	S	-	1	0	COBLL1	165259375	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.142000	0.10311	0.061000	0.16311	0.533000	0.62120	TCT		0.478	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		C	165551129	A	C	165551129	3	2	536	1	0	0	0	0	1	0	0	0	3656	304	11	5	625	5	COBLL1	2	165551129	Missense_Mutation	SNP	A	TCGA-CJ-4923-01A-01D-1429-08	59692116	165551129	77648244	7	28786											
STK17B	9262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	197002269	197002269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr2:197002269C>A	ENST00000263955.4	-	8	1307	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	STK17B_ENST00000409228.1_Nonsense_Mutation_p.E341*	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	341					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E341*(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GGGATATTCTCTTTGTCTTCT	0.418																																																1	Substitution - Nonsense(1)	kidney(1)											141	147	145					2																	197002269		2203	4300	6503	SO:0001587	stop_gained	9262			AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"death-associated protein kinase-related 2"	604727	"serine/threonine kinase 17b (apoptosis-inducing)"			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.1021G>T	2.37:g.197002269C>A	ENSP00000263955:p.Glu341*			Nonsense_Mutation	SNP	ENST00000263955.4	37	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	C	34	5.378061	0.95945	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	.	.	.	4.98	4.98	0.66077	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	16.6188	0.84924	0.0:1.0:0.0:0.0	.	.	.	.	X	341	.	ENSP00000263955:E341X	E	-	1	0	STK17B	196710514	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	4.867000	0.63013	2.600000	0.87896	0.650000	0.86243	GAG		0.418	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			A	197002269	C	A	197002269	4	1	536	1	0	0	0	0	0	1	0	0	15296	922	32	4	101	4	STK17B	2	197002269	Nonsense_Mutation	SNP	C	TCGA-CJ-4923-01A-01D-1429-08	31451140	197002269	46197104	8	28787											
IRS1	3667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	227662246	227662246	+	Silent	SNP	G	G	C	rs529655323		TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr2:227662246G>C	ENST00000305123.5	-	1	2229	c.1209C>G	c.(1207-1209)acC>acG	p.T403T	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	403	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.T403T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GACAATCCGAGGTGGAGCCAT	0.637											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											64	68	67					2																	227662246		2203	4300	6503	SO:0001819	synonymous_variant	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1209C>G	2.37:g.227662246G>C		2321		Silent	SNP	ENST00000305123.5	37	CCDS2463.1																																																																																				0.637	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		C	227662246	G	C	227662246	2	2	536	1	0	0	0	0	0	0	0	1	7842	987	35	4		4	IRS1	2	227662246	Silent	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	30659977	227662246	15537127	9	28788											
BAP1	8314	broad.mit.edu	37	3	52437168	52437168	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr3:52437168T>A	ENST00000460680.1	-	14	2347	c.1876A>T	c.(1876-1878)Aaa>Taa	p.K626*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.K608*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K626*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGTGAGTATTTCTCCCCACTC	0.592			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Nonsense(1)	kidney(1)											103	102	102					3																	52437168		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1876A>T	3.37:g.52437168T>A	ENSP00000417132:p.Lys626*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146564	0.77888	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9642	0.71179	0.0:0.0:0.0:1.0	.	.	.	.	X	626;608;127	.	ENSP00000296288:K608X	K	-	1	0	BAP1	52412208	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.172000	0.71932	2.267000	0.75376	0.533000	0.62120	AAA		0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			A	52437168	T	A	52437168	4	1	536	1	0	0	0	0	0	1	0	0	1311	1792	62	5	329	5	BAP1	3	52437168	Nonsense_Mutation	SNP	T	TCGA-CJ-4923-01A-01D-1429-08		52437168	145585262	10	28789											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52582140	52582140	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr3:52582140C>G	ENST00000296302.7	-	30	5010	c.5009G>C	c.(5008-5010)cGa>cCa	p.R1670P	PBRM1_ENST00000409057.1_Missense_Mutation_p.R1615P|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1633P|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1563P|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1578P|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1590P|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Missense_Mutation_p.R1583P|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1563P			Q86U86	PB1_HUMAN	polybromo 1	1670					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1670P(1)|p.R1563P(1)|p.R1583P(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATCAAATCTCGAAGGCGCCA	0.483			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											140	134	136					3																	52582140		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.5009G>C	3.37:g.52582140C>G	ENSP00000296302:p.Arg1670Pro		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	17.62	3.435295	0.62955	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767	T;T;T;T;T;T;T;T	0.64438	-0.08;-0.1;-0.02;0.04;-0.1;-0.08;0.5;0.04	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	M	0.80332	2.49	0.58432	D	0.999995	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.998;0.999;0.999	D;D;D;D;D;D;D;D	0.87578	0.995;0.997;0.997;0.997;0.998;0.992;0.997;0.997	T	0.83127	-0.0115	10	0.87932	D	0	-8.966	19.9915	0.97366	0.0:1.0:0.0:0.0	.	1590;1563;1615;1633;1578;1670;1583;1563	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	P	1583;1563;1670;1563;1615;1590;1633;1578	ENSP00000349213:R1583P;ENSP00000378307:R1563P;ENSP00000296302:R1670P;ENSP00000338302:R1563P;ENSP00000386593:R1615P;ENSP00000386529:R1590P;ENSP00000386643:R1633P;ENSP00000386601:R1578P	ENSP00000296302:R1670P	R	-	2	0	PBRM1	52557180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.731000	0.84895	2.723000	0.93209	0.655000	0.94253	CGA		0.483	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		G	52582140	C	G	52582140	3	3	536	1	0	0	0	0	1	0	0	0	11493	884	31	4	64	4	PBRM1	3	52582140	Missense_Mutation	SNP	C	TCGA-CJ-4923-01A-01D-1429-08	144972	52582140	145440290	11	28790											
KALRN	8997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	123987876	123987876	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr3:123987876A>G	ENST00000240874.3	+	5	894	c.737A>G	c.(736-738)gAc>gGc	p.D246G	KALRN_ENST00000360013.3_Missense_Mutation_p.D246G|KALRN_ENST00000460856.1_Missense_Mutation_p.D246G	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	246					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D246G(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGGAGCTGGACCGGGAGGGG	0.632																																																2	Substitution - Missense(2)	kidney(2)											20	20	20					3																	123987876		2202	4298	6500	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.737A>G	3.37:g.123987876A>G	ENSP00000240874:p.Asp246Gly		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.17|19.17	3.776316|3.776316	0.70107|0.70107	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.40476|.	1.03;1.03;1.03|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78246|0.78246	0.4253|0.4253	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.61080|.	0.974;0.989;0.985|.	P;P;P|.	0.59288|.	0.72;0.828;0.855|.	T|T	0.80430|0.80430	-0.1386|-0.1386	10|5	0.25751|.	T|.	0.34|.	.|.	15.7119|15.7119	0.77635|0.77635	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	246;246;246|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	G|A	246|224	ENSP00000418611:D246G;ENSP00000240874:D246G;ENSP00000353109:D246G|.	ENSP00000240874:D246G|.	D|T	+|+	2|1	0|0	KALRN|KALRN	125470566|125470566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	8.968000|8.968000	0.93407|0.93407	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	GAC|ACC		0.632	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		G	123987876	A	G	123987876	3	3	536	1	0	0	0	0	1	0	0	0	7977	275	10	3	755	3	KALRN	3	123987876	Missense_Mutation	SNP	A	TCGA-CJ-4923-01A-01D-1429-08	71405736	123987876	74034554	12	28791											
PYDC2	152138	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	191179038	191179038	+	Silent	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr3:191179038G>A	ENST00000518817.1	+	1	87	c.87G>A	c.(85-87)ctG>ctA	p.L29L		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	29	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L29L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						TCAAGTCTCTGATCAGAACAA	0.517																																																1	Substitution - coding silent(1)	kidney(1)											76	84	81					3																	191179038		2202	4300	6502	SO:0001819	synonymous_variant	152138					3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.87G>A	3.37:g.191179038G>A				Silent	SNP	ENST00000518817.1	37																																																																																					0.517	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343231.2	NM_001083308		A	191179038	G	A	191179038	2	1	536	1	0	0	0	0	0	0	0	1	12865	1277	45	2		2	PYDC2	3	191179038	Silent	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	67191162	191179038	6843392	13	28792											
DCHS2	54798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	155155839	155155839	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr4:155155839T>C	ENST00000357232.4	-	25	8599	c.8600A>G	c.(8599-8601)gAa>gGa	p.E2867G		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2867					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2867G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGTCATGCCTTCTGGCAGAGA	0.512																																																1	Substitution - Missense(1)	kidney(1)											139	133	135					4																	155155839		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8600A>G	4.37:g.155155839T>C	ENSP00000349768:p.Glu2867Gly		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011196	0.35511	.	.	ENSG00000197410	ENST00000357232	T	0.54866	0.55	5.93	3.56	0.40772	.	0.289760	0.30109	N	0.010395	T	0.33702	0.0872	L	0.36672	1.1	0.80722	D	1	P	0.35077	0.483	B	0.27887	0.084	T	0.11542	-1.0583	10	0.26408	T	0.33	.	6.7341	0.23399	0.1165:0.0:0.3304:0.5531	.	2867	Q6V1P9	PCD23_HUMAN	G	2867	ENSP00000349768:E2867G	ENSP00000349768:E2867G	E	-	2	0	DCHS2	155375289	0.995000	0.38212	0.939000	0.37840	0.432000	0.31715	2.314000	0.43743	2.258000	0.74832	0.533000	0.62120	GAA		0.512	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		C	155155839	T	C	155155839	3	2	536	1	0	0	0	0	1	0	0	0	4290	1783	62	3	154	3	DCHS2	4	155155839	Missense_Mutation	SNP	T	TCGA-CJ-4923-01A-01D-1429-08		155155839	35998437	14	28793											
ZFR	51663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32404076	32404076	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr5:32404076A>T	ENST00000265069.8	-	7	1261	c.1159T>A	c.(1159-1161)Tgc>Agc	p.C387S		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	387					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.C387S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GACACATCGCAGAGCTCACAA	0.453																																																1	Substitution - Missense(1)	kidney(1)											164	157	159					5																	32404076		2203	4300	6503	SO:0001583	missense	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1159T>A	5.37:g.32404076A>T	ENSP00000265069:p.Cys387Ser		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.705685	0.68615	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	D	0.99964	-9.97	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.039510	0.85682	D	0.000000	D	0.99967	0.9988	M	0.77103	2.36	0.80722	D	1	D	0.54772	0.968	D	0.72338	0.977	D	0.93825	0.7122	10	0.87932	D	0	.	14.7574	0.69576	1.0:0.0:0.0:0.0	.	387	Q96KR1	ZFR_HUMAN	S	387;365	ENSP00000265069:C387S	ENSP00000265069:C387S	C	-	1	0	ZFR	32439833	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.227000	0.72691	0.454000	0.30748	TGC		0.453	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			T	32404076	A	T	32404076	3	4	536	1	0	0	0	0	1	0	0	0	17664	188	7	5	2121	5	ZFR	5	32404076	Missense_Mutation	SNP	A	TCGA-CJ-4923-01A-01D-1429-08		32404076	148511184	15	28794											
PCDH1	5097	broad.mit.edu;ucsc.edu	37	5	141233715	141233715	+	Silent	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr5:141233715G>A	ENST00000287008.3	-	5	3753	c.3606C>T	c.(3604-3606)tgC>tgT	p.C1202C	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C1202C(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCGAGTCCTTGCAGGAATCAT	0.662																																					Ovarian(132;1609 1739 4190 14731 45037)											1	Substitution - coding silent(1)	kidney(1)											36	40	38					5																	141233715		2203	4300	6503	SO:0001819	synonymous_variant	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3606C>T	5.37:g.141233715G>A			Q8IUP2	Silent	SNP	ENST00000287008.3	37	CCDS4267.1																																																																																				0.662	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		A	141233715	G	A	141233715	2	1	536	1	0	0	0	0	0	0	0	1	11508	1311	46	2		2	PCDH1	5	141233715	Silent	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	108829639	141233715	39681545	16	28795											
E2F3	1871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	20481597	20481597	+	Silent	SNP	C	C	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr6:20481597C>A	ENST00000346618.3	+	3	732	c.666C>A	c.(664-666)acC>acA	p.T222T	E2F3_ENST00000535432.1_Silent_p.T91T	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	222	Leucine-zipper.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T222T(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ATGATATCACCAACGTTCTGG	0.483																																																1	Substitution - coding silent(1)	kidney(1)											170	171	170					6																	20481597		2203	4300	6503	SO:0001819	synonymous_variant	1871			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.666C>A	6.37:g.20481597C>A			Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	CCDS4545.1																																																																																				0.483	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			A	20481597	C	A	20481597	2	1	536	1	0	0	0	0	0	0	0	1	4870	581	21	4		4	E2F3	6	20481597	Silent	SNP	C	TCGA-CJ-4923-01A-01D-1429-08		20481597	150633470	17	28796											
ZNF184	7738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27420046	27420046	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr6:27420046G>C	ENST00000211936.6	-	6	1576	c.1292C>G	c.(1291-1293)tCa>tGa	p.S431*	ZNF184_ENST00000377419.1_Nonsense_Mutation_p.S431*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S431*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTGAGGTTTGAGTGCTGGCT	0.438																																																1	Substitution - Nonsense(1)	kidney(1)											94	93	93					6																	27420046		2203	4300	6503	SO:0001587	stop_gained	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1292C>G	6.37:g.27420046G>C	ENSP00000211936:p.Ser431*		B2R715|O60792|Q8TBA9	Nonsense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	37	6.585715	0.97684	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	.	.	.	5.27	5.27	0.74061	.	0.000000	0.42821	D	0.000660	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.9965	0.53206	0.0:0.1741:0.8259:0.0	.	.	.	.	X	431	.	ENSP00000211936:S431X	S	-	2	0	ZNF184	27528025	0.000000	0.05858	0.991000	0.47740	0.995000	0.86356	0.653000	0.24902	2.744000	0.94065	0.655000	0.94253	TCA		0.438	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		C	27420046	G	C	27420046	4	2	536	1	0	0	0	0	0	1	0	0	17756	1294	45	4	967	4	ZNF184	6	27420046	Nonsense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	6938449	27420046	143695021	18	28797											
SYNJ2	8871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	158497795	158497795	+	Silent	SNP	A	A	G			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr6:158497795A>G	ENST00000355585.4	+	17	2505	c.2430A>G	c.(2428-2430)aaA>aaG	p.K810K	SYNJ2_ENST00000367121.3_Silent_p.K810K|SYNJ2_ENST00000367112.1_5'Flank|SYNJ2_ENST00000367122.2_Silent_p.K810K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	810					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.K810K(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGAGGAAGAAACATCCCTTTG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											46	44	45					6																	158497795		2203	4300	6503	SO:0001819	synonymous_variant	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2430A>G	6.37:g.158497795A>G			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	CCDS5254.1																																																																																				0.572	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			G	158497795	A	G	158497795	2	3	536	1	0	0	0	0	0	0	0	1	15458	40	2	3		3	SYNJ2	6	158497795	Silent	SNP	A	TCGA-CJ-4923-01A-01D-1429-08	131077749	158497795	12617272	19	28798											
RUNDC3B	154661	broad.mit.edu;hgsc.bcm.edu	37	7	87436831	87436831	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr7:87436831A>G	ENST00000338056.3	+	10	1562	c.1151A>G	c.(1150-1152)tAt>tGt	p.Y384C	RUNDC3B_ENST00000493037.1_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.Y367C	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	384								p.Y384C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AAACAGTGGTATGAGTAAGTG	0.383																																																1	Substitution - Missense(1)	kidney(1)											110	98	102					7																	87436831		2203	4300	6503	SO:0001583	missense	154661				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1151A>G	7.37:g.87436831A>G	ENSP00000337732:p.Tyr384Cys		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524574	0.44969	.	.	ENSG00000105784	ENST00000338056;ENST00000394654	T;T	0.13901	2.55;2.55	6.17	6.17	0.99709	.	0.238619	0.41097	D	0.000948	T	0.08537	0.0212	N	0.08118	0	0.46241	D	0.99894	P;P	0.39831	0.69;0.69	B;B	0.35971	0.215;0.215	T	0.34502	-0.9826	10	0.37606	T	0.19	-9.4114	16.8222	0.85835	1.0:0.0:0.0:0.0	.	367;384	E9PBR4;Q96NL0	.;RUN3B_HUMAN	C	384;367	ENSP00000337732:Y384C;ENSP00000378149:Y367C	ENSP00000337732:Y384C	Y	+	2	0	RUNDC3B	87274767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.121000	0.77160	2.371000	0.80710	0.533000	0.62120	TAT		0.383	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		G	87436831	A	G	87436831	3	3	536	1	0	0	0	0	1	0	0	0	13751	449	16	3	1189	3	RUNDC3B	7	87436831	Missense_Mutation	SNP	A	TCGA-CJ-4923-01A-01D-1429-08		87436831	71701832	20	28799											
CHRM2	1129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	136700123	136700123	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr7:136700123G>A	ENST00000445907.2	+	3	1039	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.V171M|CHRM2_ENST00000453373.1_Missense_Mutation_p.V171M|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V171M|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.V171M|CHRM2_ENST00000397608.3_Missense_Mutation_p.V171M|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	171					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.V171M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGTGAGAACTGTGGAGGATGG	0.483																																																1	Substitution - Missense(1)	kidney(1)											113	107	109					7																	136700123		2203	4300	6503	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.511G>A	7.37:g.136700123G>A	ENSP00000399745:p.Val171Met		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030135	0.75504	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.77406	2.37	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.68857	-0.5298	10	0.59425	D	0.04	-17.8262	19.9598	0.97242	0.0:0.0:1.0:0.0	.	171	P08172	ACM2_HUMAN	M	171	ENSP00000399745:V171M;ENSP00000415386:V171M;ENSP00000319984:V171M;ENSP00000380733:V171M;ENSP00000384937:V171M;ENSP00000384401:V171M	ENSP00000319984:V171M	V	+	1	0	CHRM2	136350663	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.807000	0.99171	2.716000	0.92895	0.655000	0.94253	GTG		0.483	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			A	136700123	G	A	136700123	3	1	536	1	0	0	0	0	1	0	0	0	3379	1377	48	2	513	2	CHRM2	7	136700123	Missense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	49263292	136700123	22438540	21	28800											
LUC7L2	100996928	broad.mit.edu;ucsc.edu	37	7	139086943	139086943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr7:139086943A>T	ENST00000354926.4	+	4	670	c.316A>T	c.(316-318)Aaa>Taa	p.K106*	LUC7L2_ENST00000541515.3_Nonsense_Mutation_p.K172*|C7orf55-LUC7L2_ENST00000263545.6_Nonsense_Mutation_p.K105*|C7orf55-LUC7L2_ENST00000541170.3_Nonsense_Mutation_p.K103*	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough									p.K106*(1)									AGTGGCCAAGAAAAGATTAGC	0.348																																																1	Substitution - Nonsense(1)	kidney(1)											90	83	85					7																	139086943		1844	4084	5928	SO:0001587	stop_gained	51631				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.316A>T	7.37:g.139086943A>T	ENSP00000347005:p.Lys106*			Nonsense_Mutation	SNP	ENST00000354926.4	37	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	A	38	7.188628	0.98121	.	.	ENSG00000146963	ENST00000448820;ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.088	15.9458	0.79792	1.0:0.0:0.0:0.0	.	.	.	.	X	103;103;172;106;106;105	.	ENSP00000263545:K105X	K	+	1	0	LUC7L2	138737483	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.307000	0.96226	2.162000	0.67917	0.459000	0.35465	AAA		0.348	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			T	139086943	A	T	139086943	4	4	536	1	0	0	0	0	0	1	0	0	9085	247	9	5	330	5	LUC7L2	7	139086943	Nonsense_Mutation	SNP	A	TCGA-CJ-4923-01A-01D-1429-08	2386820	139086943	20051720	22	28801											
VPS13B	157680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	100148945	100148945	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr8:100148945A>C	ENST00000358544.2	+	12	1727	c.1616A>C	c.(1615-1617)gAt>gCt	p.D539A	VPS13B_ENST00000357162.2_Missense_Mutation_p.D539A|VPS13B_ENST00000355155.1_Missense_Mutation_p.D539A|VPS13B_ENST00000395996.1_Missense_Mutation_p.D539A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	539					protein transport (GO:0015031)			p.D539A(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTATATGGATTACCTGTAT	0.383																																					Colon(161;2205 2542 7338 31318)											2	Substitution - Missense(2)	kidney(2)											257	248	251					8																	100148945		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1616A>C	8.37:g.100148945A>C	ENSP00000351346:p.Asp539Ala		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119350	0.77323	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	D;T;T;T	0.85955	-2.05;-1.44;-1.44;-1.15	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000003	D	0.85898	0.5804	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;0.996;0.998;1.0	D	0.88746	0.3247	10	0.87932	D	0	.	14.9004	0.70675	1.0:0.0:0.0:0.0	.	539;539;539;539;539	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	A	539	ENSP00000347281:D539A;ENSP00000349685:D539A;ENSP00000351346:D539A;ENSP00000379318:D539A	ENSP00000347281:D539A	D	+	2	0	VPS13B	100218121	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.701000	0.91331	1.927000	0.55829	0.377000	0.23210	GAT		0.383	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		C	100148945	A	C	100148945	3	2	536	1	0	0	0	0	1	0	0	0	17195	333	12	5	1700	5	VPS13B	8	100148945	Missense_Mutation	SNP	A	TCGA-CJ-4923-01A-01D-1429-08		100148945	46215077	23	28802											
TG	7038	hgsc.bcm.edu;ucsc.edu	37	8	133925416	133925416	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr8:133925416delC	ENST00000220616.4	+	20	4324	c.4284delC	c.(4282-4284)gacfs	p.D1428fs	TG_ENST00000377869.1_Frame_Shift_Del_p.D1428fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1428					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCAAGGGGACCACTTTGGCA	0.562																																																0													113	92	99					8																	133925416		2203	4300	6503	SO:0001589	frameshift_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4284delC	8.37:g.133925416delC	ENSP00000220616:p.Asp1428fs		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	CCDS34944.1																																																																																				0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		-	133925416	C	-	133925416	7	5	536	1	0	1	0	1	0	0	0	0	15818	506	18	0	4362	0	TG	8	133925416	Frame_Shift_Del	DEL	C	TCGA-CJ-4923-01A-01D-1429-08	33776471	133925416	12438606	24	28803											
OR4B1	119765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	48238947	48238947	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr11:48238947A>G	ENST00000309562.2	+	1	604	c.586A>G	c.(586-588)Att>Gtt	p.I196V		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I196V(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAGGGGGTTATTGTGTTGGC	0.463																																																1	Substitution - Missense(1)	kidney(1)											187	157	168					11																	48238947		2201	4298	6499	SO:0001583	missense	119765			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.586A>G	11.37:g.48238947A>G	ENSP00000311605:p.Ile196Val		Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	A	0.839	-0.742448	0.03088	.	.	ENSG00000175619	ENST00000309562	T	0.36520	1.25	5.54	-3.01	0.05463	GPCR, rhodopsin-like superfamily (1);	0.808617	0.10917	N	0.619857	T	0.10852	0.0265	N	0.02111	-0.68	0.09310	N	1	B	0.06786	0.001	B	0.17979	0.02	T	0.18209	-1.0344	10	0.38643	T	0.18	.	1.6735	0.02817	0.3394:0.2452:0.296:0.1194	.	196	Q8NGF8	OR4B1_HUMAN	V	196	ENSP00000311605:I196V	ENSP00000311605:I196V	I	+	1	0	OR4B1	48195523	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.780000	0.04654	-0.495000	0.06659	-0.478000	0.04885	ATT		0.463	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		G	48238947	A	G	48238947	3	3	536	1	0	0	0	0	1	0	0	0	11046	449	16	3	588	3	OR4B1	11	48238947	Missense_Mutation	SNP	A	TCGA-CJ-4923-01A-01D-1429-08		48238947	86767569	25	28804											
LTBP3	4054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65308037	65308037	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr11:65308037T>C	ENST00000301873.5	-	22	3294	c.3026A>G	c.(3025-3027)aAg>aGg	p.K1009R	LTBP3_ENST00000529189.1_Missense_Mutation_p.K12R|LTBP3_ENST00000536982.1_Missense_Mutation_p.K635R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1009R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K12R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K439R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1009	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)	p.K1009R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GTTCACGCACTTGCCCTCCTT	0.642											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											85	72	76					11																	65308037		2201	4297	6498	SO:0001583	missense	4054			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3026A>G	11.37:g.65308037T>C	ENSP00000301873:p.Lys1009Arg	1083	O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.497059	0.26861	.	.	ENSG00000168056	ENST00000301874;ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982;ENST00000532661;ENST00000530866	T;D;D;T;D;T;T;D	0.92348	1.98;-3.02;-2.22;1.62;-3.02;1.98;1.98;-3.02	4.13	4.13	0.48395	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.332208	0.27549	N	0.018869	D	0.84696	0.5529	N	0.03194	-0.395	0.26849	N	0.968206	D;B;B;P;B;B;P	0.57571	0.98;0.115;0.14;0.946;0.226;0.016;0.785	P;B;B;P;B;B;P	0.57204	0.815;0.048;0.115;0.671;0.07;0.038;0.484	T	0.75816	-0.3184	10	0.14252	T	0.57	.	6.9486	0.24532	0.2046:0.0:0.0:0.7954	.	920;635;892;1009;1009;439;635	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8	.;.;.;LTBP3_HUMAN;.;.;.	R	12;1009;1009;12;12;439;635;12;920	ENSP00000326647:K1009R;ENSP00000301873:K1009R;ENSP00000434315:K12R;ENSP00000434406:K12R;ENSP00000435530:K439R;ENSP00000441912:K635R;ENSP00000436341:K12R;ENSP00000435276:K920R	ENSP00000301873:K1009R	K	-	2	0	LTBP3	65064613	0.677000	0.27577	1.000000	0.80357	0.994000	0.84299	0.368000	0.20399	1.506000	0.48736	0.374000	0.22700	AAG		0.642	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		C	65308037	T	C	65308037	3	2	536	1	0	0	0	0	1	0	0	0	9077	1609	56	3	913	3	LTBP3	11	65308037	Missense_Mutation	SNP	T	TCGA-CJ-4923-01A-01D-1429-08	17069090	65308037	69698479	26	28805											
GPR152	390212	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	67219407	67219407	+	Silent	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr11:67219407G>A	ENST00000312457.2	-	1	793	c.789C>T	c.(787-789)ttC>ttT	p.F263F	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F263F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CGTCCCACAGGAAGGCCAGGT	0.632																																					Pancreas(102;800 1581 2723 7382 33622)											1	Substitution - coding silent(1)	kidney(1)											63	55	58					11																	67219407		2200	4295	6495	SO:0001819	synonymous_variant	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.789C>T	11.37:g.67219407G>A			Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	CCDS8165.1																																																																																				0.632	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			A	67219407	G	A	67219407	2	1	536	1	0	0	0	0	0	0	0	1	6660	1165	41	2		2	GPR152	11	67219407	Silent	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	1911370	67219407	67787109	27	28806											
NDUFS8	4728	broad.mit.edu;ucsc.edu	37	11	67799656	67799656	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr11:67799656T>A	ENST00000313468.5	+	2	145	c.38T>A	c.(37-39)cTg>cAg	p.L13Q	RP5-901A4.1_ENST00000532296.1_RNA|MIR4691_ENST00000583764.1_RNA|NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	13					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.L13Q(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)	8						CTGCGGGCCCTGGCCCAGGCT	0.602																																					Colon(116;1205 2770 20054)											1	Substitution - Missense(1)	kidney(1)											100	96	97					11																	67799656		2200	4294	6494	SO:0001583	missense	4728			U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7715	protein-coding gene	gene with protein product	"complex I 23kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"	602141	"NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.38T>A	11.37:g.67799656T>A	ENSP00000315774:p.Leu13Gln		B2RB86|Q0VDA8	Missense_Mutation	SNP	ENST00000313468.5	37	CCDS8176.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731638	0.30684	.	.	ENSG00000110717	ENST00000313468;ENST00000453471;ENST00000526339;ENST00000525628	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	4.56	3.4	0.38934	.	0.176376	0.37857	N	0.001915	D	0.94149	0.8123	L	0.58101	1.795	0.80722	D	1	D;D;P	0.76494	0.999;0.984;0.952	D;P;P	0.74023	0.982;0.694;0.601	D	0.91586	0.5283	10	0.25751	T	0.34	.	8.0011	0.30297	0.0:0.0972:0.0:0.9028	.	13;13;13	B4DYI3;E9PPW7;O00217	.;.;NDUS8_HUMAN	Q	13	ENSP00000315774:L13Q;ENSP00000403972:L13Q;ENSP00000436287:L13Q;ENSP00000432968:L13Q	ENSP00000315774:L13Q	L	+	2	0	NDUFS8	67556232	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	2.507000	0.45442	1.910000	0.55303	0.533000	0.62120	CTG		0.602	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496		A	67799656	T	A	67799656	3	1	536	1	0	0	0	0	1	0	0	0	10300	1580	55	5	40	5	NDUFS8	11	67799656	Missense_Mutation	SNP	T	TCGA-CJ-4923-01A-01D-1429-08	580249	67799656	67206860	28	28807											
BIRC3	330	broad.mit.edu	37	11	102206699	102206699	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr11:102206699G>A	ENST00000263464.3	+	7	4077	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	BIRC3_ENST00000532808.1_Missense_Mutation_p.D443N	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	443	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.	Breakpoint for translocation to form BIRC3-MALT1.			apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D443N(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TTATAAAGATGATTTATTATT	0.303			T	MALT1	MALT																																		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	1	Substitution - Missense(1)	kidney(1)											55	61	59					11																	102206699		2202	4294	6496	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1327G>A	11.37:g.102206699G>A	ENSP00000263464:p.Asp443Asn		Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952743	0.73787	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.26810	1.71;1.71	5.27	5.27	0.74061	DEATH-like (1);Caspase Recruitment (2);	0.043138	0.85682	D	0.000000	T	0.55513	0.1925	M	0.83312	2.635	0.80722	D	1	D	0.64830	0.994	D	0.73708	0.981	T	0.53837	-0.8382	10	0.37606	T	0.19	.	19.0985	0.93265	0.0:0.0:1.0:0.0	.	443	Q13489	BIRC3_HUMAN	N	443;443;211	ENSP00000263464:D443N;ENSP00000432907:D443N	ENSP00000263464:D443N	D	+	1	0	BIRC3	101711909	1.000000	0.71417	0.303000	0.25071	0.566000	0.35808	6.670000	0.74467	2.751000	0.94390	0.650000	0.86243	GAT		0.303	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		A	102206699	G	A	102206699	3	1	536	1	0	0	0	0	1	0	0	0	1436	1290	45	2	1349	2	BIRC3	11	102206699	Missense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	34407043	102206699	32799817	29	28808											
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103349892	103349892	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr11:103349892C>G	ENST00000375735.2	+	89	12979	c.12835C>G	c.(12835-12837)Cgt>Ggt	p.R4279G	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R4286G|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R892G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4279					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R892G(1)|p.R1719G(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGAAAGGGATCGTGTGGTTAC	0.398																																																2	Substitution - Missense(2)	kidney(2)											119	119	119					11																	103349892		1965	4161	6126	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12835C>G	11.37:g.103349892C>G	ENSP00000364887:p.Arg4279Gly		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	8.425	0.847180	0.17034	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093;ENST00000533197	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	4.8	2.88	0.33553	Dynein heavy chain (1);	0.227893	0.39274	N	0.001416	T	0.06325	0.0163	N	0.20807	0.61	0.35159	D	0.770466	P;B;B	0.36633	0.562;0.0;0.0	B;B;B	0.39503	0.301;0.006;0.003	T	0.43893	-0.9363	10	0.30078	T	0.28	.	10.0423	0.42166	0.0:0.7825:0.0:0.2175	.	892;4279;4286	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	G	4279;892;4286;196	ENSP00000364887:R4279G;ENSP00000334021:R892G;ENSP00000381167:R4286G;ENSP00000436736:R196G	ENSP00000334021:R892G	R	+	1	0	DYNC2H1	102855102	0.606000	0.26949	0.808000	0.32385	0.435000	0.31806	1.197000	0.32211	0.520000	0.28426	0.460000	0.39030	CGT		0.398	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103349892	C	G	103349892	3	3	536	1	0	0	0	0	1	0	0	0	4848	884	31	4	13214	4	DYNC2H1	11	103349892	Missense_Mutation	SNP	C	TCGA-CJ-4923-01A-01D-1429-08	1143193	103349892	31656624	30	28809											
IGSF9B	22997	broad.mit.edu	37	11	133807380	133807380	+	Silent	SNP	G	G	A	rs540487325		TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr11:133807380G>A	ENST00000321016.8	-	5	800	c.570C>T	c.(568-570)gaC>gaT	p.D190D	IGSF9B_ENST00000533871.2_Silent_p.D190D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	190	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.D190D(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCAGGCTGCCGTCACTCACCT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17814	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	kidney(1)											50	57	55					11																	133807380		2187	4263	6450	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.570C>T	11.37:g.133807380G>A			G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																					0.612	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		A	133807380	G	A	133807380	2	1	536	1	0	0	0	0	0	0	0	1	7608	1136	40	1		1	IGSF9B	11	133807380	Silent	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	30457488	133807380	1199136	31	28810											
ACTR6	64431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100601498	100601498	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr12:100601498A>G	ENST00000188312.2	+	4	1078	c.313A>G	c.(313-315)Att>Gtt	p.I105V	ACTR6_ENST00000551617.1_Missense_Mutation_p.I23V|ACTR6_ENST00000552376.1_Missense_Mutation_p.I105V|ACTR6_ENST00000546902.1_Missense_Mutation_p.I23V	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	105						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.I105V(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						CTTCACTTCAATTCAAGAATC	0.264																																																1	Substitution - Missense(1)	kidney(1)											49	53	52					12																	100601498		2197	4285	6482	SO:0001583	missense	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.313A>G	12.37:g.100601498A>G	ENSP00000188312:p.Ile105Val		B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073872	0.55646	.	.	ENSG00000075089	ENST00000551652;ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26	5.57	5.57	0.84162	.	0.046201	0.85682	D	0.000000	D	0.94262	0.8157	L	0.51422	1.61	0.80722	D	1	B;P;B;B	0.42556	0.246;0.783;0.374;0.428	B;B;B;B	0.39562	0.268;0.303;0.102;0.164	D	0.93649	0.6971	10	0.05721	T	0.95	.	15.7359	0.77842	1.0:0.0:0.0:0.0	.	105;23;105;105	B4DLG9;F8VSD1;F8W057;Q9GZN1	.;.;.;ARP6_HUMAN	V	117;105;23;105;23	ENSP00000448508:I117V;ENSP00000188312:I105V;ENSP00000448669:I23V;ENSP00000447237:I105V;ENSP00000448356:I23V	ENSP00000188312:I105V	I	+	1	0	ACTR6	99125629	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.166000	0.94766	2.103000	0.63969	0.528000	0.53228	ATT		0.264	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		G	100601498	A	G	100601498	3	3	536	1	0	0	0	0	1	0	0	0	216	101	4	3	327	3	ACTR6	12	100601498	Missense_Mutation	SNP	A	TCGA-CJ-4923-01A-01D-1429-08		100601498	33250397	32	28811											
CRY1	1407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	107393578	107393578	+	Silent	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr12:107393578G>A	ENST00000008527.5	-	7	1755	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	296					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.F296F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CTGCTGTATAGAAAAATTCAC	0.373																																																1	Substitution - coding silent(1)	kidney(1)											44	47	46					12																	107393578		2202	4300	6502	SO:0001819	synonymous_variant	1407			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.888C>T	12.37:g.107393578G>A				Silent	SNP	ENST00000008527.5	37	CCDS9112.1																																																																																				0.373	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		A	107393578	G	A	107393578	2	1	536	1	0	0	0	0	0	0	0	1	3905	933	33	2		2	CRY1	12	107393578	Silent	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	6792080	107393578	26458317	33	28812											
EIF2AK4	440275	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40308848	40308848	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr15:40308848T>C	ENST00000263791.5	+	28	3948	c.3905T>C	c.(3904-3906)tTg>tCg	p.L1302S	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.L1274S	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1302	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.L1302S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTTGGACTGTTGAAGAAACTC	0.378																																																1	Substitution - Missense(1)	kidney(1)											113	105	107					15																	40308848		1882	4115	5997	SO:0001583	missense	440275			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3905T>C	15.37:g.40308848T>C	ENSP00000263791:p.Leu1302Ser		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327476	0.81690	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.41400	1.0;1.0	5.52	5.52	0.82312	.	0.075799	0.52532	D	0.000061	T	0.65698	0.2716	M	0.76938	2.355	0.50632	D	0.999881	D	0.76494	0.999	D	0.73708	0.981	T	0.69335	-0.5172	10	0.59425	D	0.04	-7.7525	15.9507	0.79835	0.0:0.0:0.0:1.0	.	1302	Q9P2K8	E2AK4_HUMAN	S	1302;1274	ENSP00000263791:L1302S;ENSP00000372174:L1274S	ENSP00000263791:L1302S	L	+	2	0	EIF2AK4	38096140	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.898000	0.87363	2.221000	0.72209	0.523000	0.50628	TTG		0.378	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			C	40308848	T	C	40308848	3	2	536	1	0	0	0	0	1	0	0	0	5001	1821	63	3	4015	3	EIF2AK4	15	40308848	Missense_Mutation	SNP	T	TCGA-CJ-4923-01A-01D-1429-08		40308848	62222544	34	28813											
IGDCC3	9543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65624284	65624284	+	Silent	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr15:65624284G>A	ENST00000327987.4	-	7	1394	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	381	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.N381N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATACCTGTTGTTATTCTTGA	0.607																																																1	Substitution - coding silent(1)	kidney(1)											100	89	93					15																	65624284		2201	4299	6500	SO:0001819	synonymous_variant	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1143C>T	15.37:g.65624284G>A			O95215	Silent	SNP	ENST00000327987.4	37	CCDS10205.1																																																																																				0.607	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		A	65624284	G	A	65624284	2	1	536	1	0	0	0	0	0	0	0	1	7570	1368	48	2		2	IGDCC3	15	65624284	Silent	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	25315436	65624284	36907108	35	28814											
IL16	3603	broad.mit.edu;ucsc.edu	37	15	81591913	81591913	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr15:81591913G>A	ENST00000302987.4	+	13	2246	c.2246G>A	c.(2245-2247)gGg>gAg	p.G749E	IL16_ENST00000394652.2_Missense_Mutation_p.G48E|IL16_ENST00000394660.2_Missense_Mutation_p.G749E|IL16_ENST00000560230.1_3'UTR			Q14005	IL16_HUMAN	interleukin 16	749					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G703E(1)|p.G749E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAAGAAGAAGGGACACAGGGC	0.512																																																2	Substitution - Missense(2)	kidney(2)											93	96	95					15																	81591913		2203	4300	6503	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2246G>A	15.37:g.81591913G>A	ENSP00000302935:p.Gly749Glu		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	2.809	-0.247371	0.05867	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.10192	2.9;2.9;3.46	5.06	3.09	0.35607	.	0.680702	0.13007	N	0.421188	T	0.19248	0.0462	L	0.58669	1.825	0.09310	N	1	B;P;B;D;B;B	0.76494	0.136;0.476;0.055;0.999;0.084;0.136	B;B;B;D;B;B	0.66084	0.038;0.122;0.008;0.941;0.006;0.038	T	0.08764	-1.0706	10	0.07175	T	0.84	.	5.9545	0.19265	0.1759:0.0:0.6643:0.1598	.	581;243;286;139;749;749	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	E	749;581;749;286;139;48;48	ENSP00000378155:G749E;ENSP00000302935:G749E;ENSP00000378147:G48E	ENSP00000302935:G749E	G	+	2	0	IL16	79378968	0.013000	0.17824	0.009000	0.14445	0.003000	0.03518	1.853000	0.39358	1.061000	0.40601	0.655000	0.94253	GGG		0.512	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		A	81591913	G	A	81591913	3	1	536	1	0	0	0	0	1	0	0	0	7635	1232	43	2	2296	2	IL16	15	81591913	Missense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	15967629	81591913	20939479	36	28815											
BLM	641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91292871	91292871	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr15:91292871A>C	ENST00000355112.3	+	3	491	c.373A>C	c.(373-375)Aca>Cca	p.T125P	BLM_ENST00000560509.1_Missense_Mutation_p.T125P	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	125					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.T125P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TACCCAAAACACACCAACTGT	0.403			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	1	Substitution - Missense(1)	kidney(1)											67	67	67					15																	91292871		2198	4298	6496	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.373A>C	15.37:g.91292871A>C	ENSP00000347232:p.Thr125Pro		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197685	0.38806	.	.	ENSG00000197299	ENST00000355112	T	0.44482	0.92	6.02	4.89	0.63831	.	0.551000	0.18395	N	0.142549	T	0.39172	0.1068	L	0.55481	1.735	0.09310	N	1	P;P	0.49961	0.93;0.93	P;P	0.44860	0.462;0.462	T	0.23583	-1.0184	10	0.30854	T	0.27	-0.3649	7.8422	0.29406	0.9009:0.0:0.0991:0.0	.	125;125	B2RAN0;P54132	.;BLM_HUMAN	P	125	ENSP00000347232:T125P	ENSP00000347232:T125P	T	+	1	0	BLM	89093875	0.040000	0.19996	0.014000	0.15608	0.018000	0.09664	2.344000	0.44010	1.093000	0.41377	0.533000	0.62120	ACA		0.403	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			C	91292871	A	C	91292871	3	2	536	1	0	0	0	0	1	0	0	0	1445	159	6	5	379	5	BLM	15	91292871	Missense_Mutation	SNP	A	TCGA-CJ-4923-01A-01D-1429-08	9700958	91292871	11238521	37	28816											
COG8	84342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69368915	69368915	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr16:69368915T>C	ENST00000306875.4	-	3	1036	c.922A>G	c.(922-924)Act>Gct	p.T308A	COG8_ENST00000562081.1_Missense_Mutation_p.T308A|RP11-343C2.12_ENST00000562949.1_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	308					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.T308A(1)		breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCATTCACAGTGTGCTCACCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											64	54	58					16																	69368915		2198	4300	6498	SO:0001583	missense	84342			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.922A>G	16.37:g.69368915T>C	ENSP00000305459:p.Thr308Ala		Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	T	5.925	0.354754	0.11239	.	.	ENSG00000213380	ENST00000306875	T	0.41400	1.0	5.93	2.26	0.28386	Cullin repeat-like-containing domain (1);	0.630202	0.18060	N	0.152991	T	0.12305	0.0299	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.007	T	0.24012	-1.0172	10	0.07644	T	0.81	-9.987	1.3285	0.02130	0.335:0.0806:0.2339:0.3505	.	335;308	B4DYU2;Q96MW5	.;COG8_HUMAN	A	308	ENSP00000305459:T308A	ENSP00000305459:T308A	T	-	1	0	COG8	67926416	0.099000	0.21834	0.161000	0.22692	0.892000	0.51952	0.258000	0.18387	1.021000	0.39600	0.460000	0.39030	ACT		0.577	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		C	69368915	T	C	69368915	3	2	536	1	0	0	0	0	1	0	0	0	3666	1696	59	3	928	3	COG8	16	69368915	Missense_Mutation	SNP	T	TCGA-CJ-4923-01A-01D-1429-08		69368915	20985838	38	28817											
PRPF8	10594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1579248	1579248	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr17:1579248G>A	ENST00000572621.1	-	17	2918	c.2653C>T	c.(2653-2655)Ctc>Ttc	p.L885F	PRPF8_ENST00000304992.6_Missense_Mutation_p.L885F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	885	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.L885F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTGTGAGGAGGTGACGCTTG	0.532																																																1	Substitution - Missense(1)	kidney(1)											71	68	69					17																	1579248		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2653C>T	17.37:g.1579248G>A	ENSP00000460348:p.Leu885Phe		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761943	0.69763	.	.	ENSG00000174231	ENST00000304992	D	0.86694	-2.16	6.01	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.91801	0.7406	M	0.89840	3.065	0.58432	D	0.999998	D	0.55385	0.971	P	0.54924	0.764	D	0.92135	0.5715	10	0.56958	D	0.05	-11.4303	9.9151	0.41430	0.2761:0.0:0.7239:0.0	.	885	Q6P2Q9	PRP8_HUMAN	F	885	ENSP00000304350:L885F	ENSP00000304350:L885F	L	-	1	0	PRPF8	1525998	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	4.942000	0.63547	1.558000	0.49541	0.650000	0.86243	CTC		0.532	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			A	1579248	G	A	1579248	3	1	536	1	0	0	0	0	1	0	0	0	12580	1000	35	2	4458	2	PRPF8	17	1579248	Missense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08		1579248	79615962	39	28818											
EVI2B	2124	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29632303	29632303	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr17:29632303G>T	ENST00000330927.4	-	2	479	c.325C>A	c.(325-327)Cca>Aca	p.P109T	CTD-2370N5.3_ENST00000578584.1_3'UTR|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.P124T|EVI2B_ENST00000577894.1_Missense_Mutation_p.P109T	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	109						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)|p.P109T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		ATTGGTGTTGGTTGTTTGGTG	0.493																																																12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|kidney(1)|central_nervous_system(1)											568	430	476					17																	29632303		2203	4300	6503	SO:0001583	missense	2124				CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"CD molecules"	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.325C>A	17.37:g.29632303G>T	ENSP00000333779:p.Pro109Thr		B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285885	0.23478	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.65364	-0.13;-0.15	5.32	0.79	0.18613	.	0.337408	0.20933	N	0.083067	T	0.43678	0.1258	L	0.38838	1.175	0.25395	N	0.988492	P;P	0.35107	0.484;0.484	B;B	0.33254	0.16;0.16	T	0.28396	-1.0045	10	0.45353	T	0.12	0.0271	3.8777	0.09064	0.0866:0.3053:0.4505:0.1576	.	124;109	B7Z4A7;P34910	.;EVI2B_HUMAN	T	109;124	ENSP00000333779:P109T;ENSP00000439738:P124T	ENSP00000333779:P109T	P	-	1	0	EVI2B	26656429	0.436000	0.25586	0.019000	0.16419	0.031000	0.12232	0.215000	0.17562	-0.046000	0.13446	0.561000	0.74099	CCA		0.493	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		T	29632303	G	T	29632303	3	4	536	1	0	0	0	0	1	0	0	0	5290	1261	44	4	1025	4	EVI2B	17	29632303	Missense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	28053055	29632303	51562907	40	28819											
ABCA8	10351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	66883567	66883567	+	Silent	SNP	G	G	C			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr17:66883567G>C	ENST00000269080.2	-	23	3242	c.3105C>G	c.(3103-3105)tcC>tcG	p.S1035S	ABCA8_ENST00000586539.1_Silent_p.S1075S|ABCA8_ENST00000430352.2_Silent_p.S1075S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1035					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.S1035S(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAAGTACAGGGAAACATCCA	0.418																																																1	Substitution - coding silent(1)	kidney(1)											115	133	127					17																	66883567		2203	4300	6503	SO:0001819	synonymous_variant	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3105C>G	17.37:g.66883567G>C			A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	CCDS11680.1																																																																																				0.418	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		C	66883567	G	C	66883567	2	2	536	1	0	0	0	0	0	0	0	1	38	1219	43	4		4	ABCA8	17	66883567	Silent	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	37251264	66883567	14311643	41	28820											
PNPLA6	10908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7615512	7615512	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr19:7615512G>A	ENST00000221249.6	+	19	2370	c.1939G>A	c.(1939-1941)Gac>Aac	p.D647N	PNPLA6_ENST00000600737.1_Missense_Mutation_p.D686N|PNPLA6_ENST00000414982.3_Missense_Mutation_p.D695N|PNPLA6_ENST00000450331.3_Missense_Mutation_p.D647N|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Missense_Mutation_p.D621N	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	686					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.D647N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGGCCGCGGCGACCTCATCGG	0.642																																																1	Substitution - Missense(1)	kidney(1)											48	40	43					19																	7615512		2203	4300	6503	SO:0001583	missense	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1939G>A	19.37:g.7615512G>A	ENSP00000221249:p.Asp647Asn		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646156	0.96704	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.09	5.09	0.68999	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.69078	0.994;0.992;0.992;0.997	D;D;D;D	0.69307	0.946;0.91;0.939;0.963	T	0.74850	-0.3524	10	0.87932	D	0	.	16.002	0.80301	0.0:0.0:1.0:0.0	.	686;621;686;647	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	N	647;621;695;647	ENSP00000221249:D647N;ENSP00000443323:D621N;ENSP00000407509:D695N;ENSP00000394348:D647N	ENSP00000221249:D647N	D	+	1	0	PNPLA6	7521512	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.646000	0.98474	2.362000	0.80069	0.591000	0.81541	GAC		0.642	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		A	7615512	G	A	7615512	3	1	536	1	0	0	0	0	1	0	0	0	12171	1058	37	1	2149	1	PNPLA6	19	7615512	Missense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08		7615512	51513471	42	28821											
ZSWIM4	65249	broad.mit.edu;hgsc.bcm.edu	37	19	13910687	13910687	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr19:13910687G>A	ENST00000254323.2	+	2	496	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	CTD-3252C9.2_ENST00000591242.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	103							zinc ion binding (GO:0008270)	p.G103R(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTTTACCCGCGGGCTGCACCT	0.642																																																1	Substitution - Missense(1)	kidney(1)											46	44	45					19																	13910687		2203	4299	6502	SO:0001583	missense	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.307G>A	19.37:g.13910687G>A	ENSP00000254323:p.Gly103Arg			Missense_Mutation	SNP	ENST00000254323.2	37	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266496	0.80358	.	.	ENSG00000132003	ENST00000254323	T	0.59083	0.29	4.31	4.31	0.51392	.	0.358291	0.22319	N	0.061626	T	0.79736	0.4497	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84507	0.0620	10	0.87932	D	0	-34.9787	14.3012	0.66355	0.0:0.0:1.0:0.0	.	103	Q9H7M6	ZSWM4_HUMAN	R	103	ENSP00000254323:G103R	ENSP00000254323:G103R	G	+	1	0	ZSWIM4	13771687	1.000000	0.71417	0.929000	0.37066	0.613000	0.37349	6.686000	0.74548	1.946000	0.56461	0.484000	0.47621	GGG		0.642	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		A	13910687	G	A	13910687	3	1	536	1	0	0	0	0	1	0	0	0	18248	1116	39	1	313	1	ZSWIM4	19	13910687	Missense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	6295175	13910687	45218296	43	28822											
CPAMD8	27151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17039855	17039855	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr19:17039855G>T	ENST00000443236.1	-	24	3213	c.3182C>A	c.(3181-3183)aCc>aAc	p.T1061N		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1014						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T1061N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATCTTGCTGGTGGAGATCCA	0.582																																																1	Substitution - Missense(1)	kidney(1)											49	51	50					19																	17039855		1988	4162	6150	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3182C>A	19.37:g.17039855G>T	ENSP00000402505:p.Thr1061Asn		Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.27|12.27	1.887307|1.887307	0.33348|0.33348	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	3.51|3.51	2.13|2.13	0.27403|0.27403	.|Farnesoic acid O-methyl transferase (1);	.|1.195030	.|0.06447	.|U	.|0.727106	T|T	0.38825|0.38825	0.1055|0.1055	N|N	0.22421|0.22421	0.69|0.69	0.49798|0.49798	D|D	0.999826|0.999826	.|P	.|0.38677	.|0.642	.|B	.|0.37550	.|0.253	T|T	0.21999|0.21999	-1.0229|-1.0229	5|9	.|0.17369	.|T	.|0.5	.|.	11.0191|11.0191	0.47707|0.47707	0.1834:0.0:0.8166:0.0|0.1834:0.0:0.8166:0.0	.|.	.|1014	.|Q8IZJ3	.|CPMD8_HUMAN	T|N	1072|1061	.|.	.|ENSP00000291440:T1061N	P|T	-|-	1|2	0|0	CPAMD8|CPAMD8	16900855|16900855	0.725000|0.725000	0.28048|0.28048	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.849000|0.849000	0.27723|0.27723	1.526000|1.526000	0.49068|0.49068	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.582	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		T	17039855	G	T	17039855	3	4	536	1	0	0	0	0	1	0	0	0	3797	1261	44	4	2692	4	CPAMD8	19	17039855	Missense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	3129168	17039855	42089128	44	28823											
GFRA4	64096	broad.mit.edu	37	20	3641432	3641432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr20:3641432delG	ENST00000319242.3	-	2	550	c.551delC	c.(550-552)ccgfs	p.P184fs	GFRA4_ENST00000290417.2_Frame_Shift_Del_p.R158fs			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	184					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						CGCAGGCAGCGGGCGCCCTGG	0.776																																																0													2	2	2					20																	3641432		1302	2887	4189	SO:0001589	frameshift_variant	64096			AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"persephin receptor"					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.551delC	20.37:g.3641432delG	ENSP00000313423:p.Pro184fs		Q5JT74|Q9H191|Q9H192	Frame_Shift_Del	DEL	ENST00000319242.3	37	CCDS13056.1																																																																																				0.776	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		-	3641432	G	-	3641432	7	5	536	1	0	1	0	1	0	0	0	0	6352	1116	39	0	364	0	GFRA4	20	3641432	Frame_Shift_Del	DEL	G	TCGA-CJ-4923-01A-01D-1429-08		3641432	59384088	45	28824											
MACROD2	140733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	15412069	15412069	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr20:15412069C>A	ENST00000310348.4	+	7	560	c.560C>A	c.(559-561)aCa>aAa	p.T187K	MACROD2_ENST00000217246.4_Missense_Mutation_p.T187K|MACROD2_ENST00000402914.1_5'UTR			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	187	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.|Substrate binding.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.T187K(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TGCATCTCAACAGGCATTTAT	0.318																																																1	Substitution - Missense(1)	kidney(1)											309	277	287					20																	15412069		1850	4088	5938	SO:0001583	missense	140733			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.560C>A	20.37:g.15412069C>A	ENSP00000309809:p.Thr187Lys		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074354	0.76415	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.32753	1.44;1.44	5.34	5.34	0.76211	Appr-1-p processing (3);	0.000000	0.52532	D	0.000062	T	0.72827	0.3509	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.987	D	0.84465	0.0596	10	0.87932	D	0	-10.3118	14.547	0.68038	0.0:1.0:0.0:0.0	.	187;187	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	K	187	ENSP00000217246:T187K;ENSP00000309809:T187K	ENSP00000217246:T187K	T	+	2	0	MACROD2	15360069	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.767000	0.55288	2.479000	0.83701	0.650000	0.86243	ACA		0.318	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		A	15412069	C	A	15412069	3	1	536	1	0	0	0	0	1	0	0	0	9148	478	17	4	586	4	MACROD2	20	15412069	Missense_Mutation	SNP	C	TCGA-CJ-4923-01A-01D-1429-08	11770637	15412069	47613451	46	28825											
LPIN3	64900	broad.mit.edu;ucsc.edu	37	20	39984632	39984632	+	Silent	SNP	T	T	C			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr20:39984632T>C	ENST00000373257.3	+	14	1852	c.1761T>C	c.(1759-1761)acT>acC	p.T587T		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	587					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.T587T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				caccctccactccTACCTACA	0.567																																																1	Substitution - coding silent(1)	kidney(1)											256	193	214					20																	39984632		2203	4300	6503	SO:0001819	synonymous_variant	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1761T>C	20.37:g.39984632T>C			B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	T	2.440	-0.328776	0.05314	.	.	ENSG00000132793	ENST00000445975	.	.	.	4.4	-3.95	0.04118	.	.	.	.	.	T	0.39911	0.1096	.	.	.	0.48762	D	0.999709	.	.	.	.	.	.	T	0.35375	-0.9791	4	.	.	.	0.0366	3.4707	0.07566	0.0983:0.3759:0.2693:0.2565	.	.	.	.	P	77	.	.	L	+	2	0	LPIN3	39418046	0.000000	0.05858	0.015000	0.15790	0.419000	0.31324	-0.728000	0.04925	-0.620000	0.05641	0.379000	0.24179	CTC		0.567	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		C	39984632	T	C	39984632	2	2	536	1	0	0	0	0	0	0	0	1	8922	1538	54	3		3	LPIN3	20	39984632	Silent	SNP	T	TCGA-CJ-4923-01A-01D-1429-08	24572563	39984632	23040888	47	28826											
TOP3B	8940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	22317229	22317229	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chr22:22317229C>T	ENST00000398793.2	-	12	1675	c.1241G>A	c.(1240-1242)aGa>aAa	p.R414K	TOP3B_ENST00000413067.2_Missense_Mutation_p.R143K|TOP3B_ENST00000357179.5_Missense_Mutation_p.R414K	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	414					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.R414K(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GATGAAGTGTCTGGTGATGTA	0.622																																																2	Substitution - Missense(2)	kidney(2)											107	101	103					22																	22317229		2203	4300	6503	SO:0001583	missense	8940			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1241G>A	22.37:g.22317229C>T	ENSP00000381773:p.Arg414Lys		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	CCDS13797.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.381534|4.381534	0.82792|0.82792	.|.	.|.	ENSG00000100038|ENSG00000100038	ENST00000457270|ENST00000357179;ENST00000398793;ENST00000413067	.|T;T;T	.|0.22945	.|1.93;1.93;1.93	4.59|4.59	4.59|4.59	0.56863|0.56863	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39279|0.39279	0.1072|0.1072	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	.|B;B	.|0.21753	.|0.06;0.048	.|B;B	.|0.28916	.|0.096;0.047	T|T	0.45585|0.45585	-0.9251|-0.9251	5|10	.|0.66056	.|D	.|0.02	.|.	17.5949|17.5949	0.88009|0.88009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|414;414	.|O95985;O95985-2	.|TOP3B_HUMAN;.	N|K	209|414;414;143	.|ENSP00000349705:R414K;ENSP00000381773:R414K;ENSP00000393118:R143K	.|ENSP00000349705:R414K	D|R	-|-	1|2	0|0	TOP3B|TOP3B	20647229|20647229	0.900000|0.900000	0.30661|0.30661	0.932000|0.932000	0.37286|0.37286	0.868000|0.868000	0.49771|0.49771	7.085000|7.085000	0.76875|0.76875	2.368000|2.368000	0.80403|0.80403	0.563000|0.563000	0.77884|0.77884	GAC|AGA		0.622	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		T	22317229	C	T	22317229	3	4	536	1	0	0	0	0	1	0	0	0	16373	913	32	2	1375	2	TOP3B	22	22317229	Missense_Mutation	SNP	C	TCGA-CJ-4923-01A-01D-1429-08		22317229	28987337	48	28827											
SFRS17A	8227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1712782	1712782	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chrX:1712782G>A	ENST00000313871.3	+	2	623	c.427G>A	c.(427-429)Ggg>Agg	p.G143R	AKAP17A_ENST00000381261.3_Missense_Mutation_p.G143R	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	143					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.G143R(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GACCCTGCCGGGGGAGCGGCC	0.667																																																1	Substitution - Missense(1)	kidney(1)											113	128	123					X																	1712782		2203	4296	6499	SO:0001583	missense	8227			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.427G>A	X.37:g.1712782G>A	ENSP00000324827:p.Gly143Arg		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	10.01	1.233643	0.22626	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.46819	0.86;0.86	1.86	1.86	0.25419	.	0.000000	0.64402	U	0.000001	T	0.65112	0.2660	.	.	.	0.25136	N	0.990537	D;D	0.89917	0.985;1.0	P;D	0.76575	0.779;0.988	T	0.58702	-0.7590	9	0.87932	D	0	-25.2803	12.1799	0.54206	0.0:0.0:1.0:0.0	.	143;143	Q02040-3;Q02040	.;AK17A_HUMAN	R	143	ENSP00000324827:G143R;ENSP00000370660:G143R	ENSP00000324827:G143R	G	+	1	0	AKAP17A	1672782	1.000000	0.71417	0.009000	0.14445	0.475000	0.33008	7.091000	0.76923	0.717000	0.32145	0.100000	0.15512	GGG		0.667	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		A	1712782	G	A	1712782	3	1	536	1	0	0	0	0	1	0	0	0	14179	1232	43	2	429	2	SFRS17A	23	1712782	Missense_Mutation	SNP	G	TCGA-CJ-4923-01A-01D-1429-08		1712782	153557778	49	28828											
ARSD	414	hgsc.bcm.edu	37	X	2835964	2835964	+	Silent	SNP	G	G	A	rs73632972	byFrequency	TCGA-CJ-4923-01A-01D-1429-08	TCGA-CJ-4923-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	19171a1a-6483-4bf3-b0b4-8cd441303c55	f394a92b-22c4-43d1-991b-b32a270d1cba	g.chrX:2835964G>A	ENST00000381154.1	-	5	819	c.744C>T	c.(742-744)ttC>ttT	p.F248F	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	248					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACAAACCCGAAGGAGGAGT	0.557																																																0													35	38	37					X																	2835964		2203	4300	6503	SO:0001819	synonymous_variant	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.744C>T	X.37:g.2835964G>A			Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																				0.557	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			A	2835964	G	A	2835964	2	1	536	1	0	0	0	0	0	0	0	1	989	1049	37	1		1	ARSD	23	2835964	Silent	SNP	G	TCGA-CJ-4923-01A-01D-1429-08	1123182	2835964	152434596	50	28829											
POMGNT1	55624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46662429	46662429	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr1:46662429C>A	ENST00000371984.3	-	4	485	c.328G>T	c.(328-330)Gta>Tta	p.V110L	POMGNT1_ENST00000535522.1_Missense_Mutation_p.V88L|POMGNT1_ENST00000371986.3_Missense_Mutation_p.V110L|POMGNT1_ENST00000396420.3_Missense_Mutation_p.V110L|POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000371992.1_Missense_Mutation_p.V110L	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	110					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)	p.V110L(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GCCACATATACTTTGCTGCGA	0.622																																																2	Substitution - Missense(2)	kidney(2)											93	81	85					1																	46662429		2203	4300	6503	SO:0001583	missense	55624				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.328G>T	1.37:g.46662429C>A	ENSP00000361052:p.Val110Leu		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	CCDS531.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349493	0.95830	.	.	ENSG00000085998	ENST00000396420;ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;1.25;-1.1	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	L	0.42245	1.32	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.991;0.997	D;P;P	0.63877	0.919;0.76;0.76	D	0.85509	0.1196	10	0.72032	D	0.01	-10.5621	18.5129	0.90923	0.0:1.0:0.0:0.0	.	88;110;110	F5H827;Q5VST3;Q8WZA1	.;.;PMGT1_HUMAN	L	110;110;110;88;110	ENSP00000379698:V110L;ENSP00000361052:V110L;ENSP00000361060:V110L;ENSP00000443767:V88L;ENSP00000361054:V110L	ENSP00000361052:V110L	V	-	1	0	POMGNT1	46435016	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.234000	0.78134	2.362000	0.80069	0.561000	0.74099	GTA		0.622	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		A	46662429	C	A	46662429	3	1	537	1	0	0	0	0	1	0	0	0	12245	565	20	4	1730	4	POMGNT1	1	46662429	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10		46662429	202588192	1	28830											
ALDH9A1	223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	165652237	165652237	+	Silent	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr1:165652237G>T	ENST00000354775.4	-	3	742	c.438C>A	c.(436-438)ggC>ggA	p.G146G	ALDH9A1_ENST00000538148.1_Silent_p.G52G|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	122					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)	p.G146G(1)|p.G122G(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ATGCAGCCAAGCCCGCATAAT	0.507																																					Ovarian(179;1583 2014 18106 33801 42447)											2	Substitution - coding silent(2)	kidney(2)											96	82	86					1																	165652237		2203	4300	6503	SO:0001819	synonymous_variant	223			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.438C>A	1.37:g.165652237G>T			B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	ENST00000354775.4	37	CCDS1250.2																																																																																				0.507	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			T	165652237	G	T	165652237	2	4	537	1	0	0	0	0	0	0	0	1	506	958	34	4		4	ALDH9A1	1	165652237	Silent	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	118989808	165652237	83598384	2	28831											
NMNAT2	23057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183230359	183230359	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr1:183230359G>T	ENST00000287713.6	-	9	1065	c.731C>A	c.(730-732)tCc>tAc	p.S244Y	NMNAT2_ENST00000294868.4_Missense_Mutation_p.S239Y	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	244					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.S244Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GAGTATTGAGGAGTGATTCAT	0.522																																																1	Substitution - Missense(1)	kidney(1)											202	179	187					1																	183230359		2203	4300	6503	SO:0001583	missense	23057			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"chromosome 1 open reading frame 15"	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.731C>A	1.37:g.183230359G>T	ENSP00000287713:p.Ser244Tyr		O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	ENST00000287713.6	37	CCDS1353.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957618	0.92726	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.96774	-4.12;-4.12	5.4	5.4	0.78164	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.97904	0.9311	M	0.71871	2.18	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	D	0.98708	1.0703	10	0.87932	D	0	-17.4259	19.1728	0.93585	0.0:0.0:1.0:0.0	.	244;239	Q9BZQ4;Q9BZQ4-2	NMNA2_HUMAN;.	Y	244;239	ENSP00000287713:S244Y;ENSP00000294868:S239Y	ENSP00000287713:S244Y	S	-	2	0	NMNAT2	181496982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.463000	0.97652	2.526000	0.85167	0.655000	0.94253	TCC		0.522	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			T	183230359	G	T	183230359	3	4	537	1	0	0	0	0	1	0	0	0	10501	1174	41	4	204	4	NMNAT2	1	183230359	Missense_Mutation	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	17578122	183230359	66020262	3	28832											
ZNF678	339500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227842449	227842449	+	Silent	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr1:227842449A>T	ENST00000343776.5	+	4	843	c.498A>T	c.(496-498)tcA>tcT	p.S166S	ZNF678_ENST00000397097.3_Silent_p.S221S|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S221S(1)|p.S166S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATTGGTGGTCACAACTAACTA	0.338																																																2	Substitution - coding silent(2)	kidney(2)											72	85	81					1																	227842449		2202	4298	6500	SO:0001819	synonymous_variant	339500			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.498A>T	1.37:g.227842449A>T			Q8IVQ9	Silent	SNP	ENST00000343776.5	37																																																																																					0.338	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		T	227842449	A	T	227842449	2	4	537	1	0	0	0	0	0	0	0	1	18090	146	6	5		5	ZNF678	1	227842449	Silent	SNP	A	TCGA-CJ-5671-01A-11D-1534-10	44612090	227842449	21408172	4	28833											
CAD	790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27465207	27465207	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:27465207C>G	ENST00000403525.1	+	39	6089	c.5945C>G	c.(5944-5946)gCt>gGt	p.A1982G	CAD_ENST00000264705.4_Missense_Mutation_p.A2045G			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.A2045G(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGATCAATGCTGGGGATGGG	0.612																																																1	Substitution - Missense(1)	kidney(1)											33	36	35					2																	27465207		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5945C>G	2.37:g.27465207C>G	ENSP00000384510:p.Ala1982Gly		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.79|16.79	3.221596|3.221596	0.58560|0.58560	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000428460	D;D|.	0.99311|.	-5.73;-5.73|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70745|0.70745	0.3259|0.3259	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	B;D|.	0.76494|.	0.181;0.999|.	B;D|.	0.85130|.	0.275;0.997|.	T|T	0.69895|0.69895	-0.5021|-0.5021	10|5	0.10111|.	T|.	0.7|.	-0.233|-0.233	16.5999|16.5999	0.84810|0.84810	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1982;2045|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	G|V	2045;1982|81	ENSP00000264705:A2045G;ENSP00000384510:A1982G|.	ENSP00000264705:A2045G|.	A|L	+|+	2|1	0|2	CAD|CAD	27318711|27318711	1.000000|1.000000	0.71417|0.71417	0.816000|0.816000	0.32577|0.32577	0.968000|0.968000	0.65278|0.65278	7.207000|7.207000	0.77899|0.77899	2.239000|2.239000	0.73571|0.73571	0.491000|0.491000	0.48974|0.48974	GCT|CTG		0.612	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			G	27465207	C	G	27465207	3	3	537	1	0	0	0	0	1	0	0	0	2567	797	28	4	6292	4	CAD	2	27465207	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10		27465207	215734166	5	28834											
GALM	130589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	38956797	38956797	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:38956797A>T	ENST00000272252.5	+	5	986	c.734A>T	c.(733-735)aAt>aTt	p.N245I	GALM_ENST00000410063.1_Missense_Mutation_p.N97I	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	245					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)	p.N245I(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				TTTGACCACAATTTCTGTCTG	0.448																																																1	Substitution - Missense(1)	kidney(1)											113	117	116					2																	38956797		2203	4300	6503	SO:0001583	missense	130589				CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"aldose 1 epimerase"	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.734A>T	2.37:g.38956797A>T	ENSP00000272252:p.Asn245Ile		Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	ENST00000272252.5	37	CCDS1797.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725038	0.89298	.	.	ENSG00000143891	ENST00000272252;ENST00000410063;ENST00000434934	T;T;T	0.44482	0.92;0.98;0.92	5.55	5.55	0.83447	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.72622	0.3483	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80415	-0.1392	10	0.87932	D	0	-20.1026	15.3478	0.74355	1.0:0.0:0.0:0.0	.	245	Q96C23	GALM_HUMAN	I	245;97;125	ENSP00000272252:N245I;ENSP00000386233:N97I;ENSP00000399473:N125I	ENSP00000272252:N245I	N	+	2	0	GALM	38810301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.583000	0.90794	2.121000	0.65114	0.459000	0.35465	AAT		0.448	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		T	38956797	A	T	38956797	3	4	537	1	0	0	0	0	1	0	0	0	6207	101	4	5	752	5	GALM	2	38956797	Missense_Mutation	SNP	A	TCGA-CJ-5671-01A-11D-1534-10	11491590	38956797	204242576	6	28835											
ACCN4	55515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220402025	220402025	+	Silent	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:220402025C>A	ENST00000347842.3	+	7	1721	c.1707C>A	c.(1705-1707)atC>atA	p.I569I	ASIC4_ENST00000358078.4_Silent_p.I588I	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	569					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.I588I(1)									TGCTGGAGATCCTCGACTACA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											36	31	33					2																	220402025		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1707C>A	2.37:g.220402025C>A			Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	CCDS2442.1																																																																																				0.652	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		A	220402025	C	A	220402025	2	1	537	1	0	0	0	0	0	0	0	1	131	845	30	4		4	ACCN4	2	220402025	Silent	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	181445228	220402025	22797348	7	28836											
C2orf57	165100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	232457795	232457795	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:232457795G>A	ENST00000313965.2	+	1	221	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	45								p.D45N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CGCATCCACTGACTGGCAGGA	0.562																																																1	Substitution - Missense(1)	kidney(1)											113	111	111					2																	232457795		2203	4300	6503	SO:0001583	missense	165100			BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.133G>A	2.37:g.232457795G>A	ENSP00000315557:p.Asp45Asn		Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	g	15.25	2.778404	0.49786	.	.	ENSG00000177673	ENST00000313965	T	0.20332	2.08	4.15	3.25	0.37280	.	0.254221	0.20696	N	0.087374	T	0.09905	0.0243	N	0.14661	0.345	0.09310	N	1	P	0.42518	0.782	B	0.37144	0.242	T	0.18116	-1.0347	10	0.19147	T	0.46	.	8.2288	0.31587	0.113:0.0:0.887:0.0	.	45	Q53QW1	CB057_HUMAN	N	45	ENSP00000315557:D45N	ENSP00000315557:D45N	D	+	1	0	C2orf57	232166039	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.048000	0.14078	1.068000	0.40764	0.563000	0.77884	GAC		0.562	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		A	232457795	G	A	232457795	3	1	537	1	0	0	0	0	1	0	0	0	2180	1290	45	2	135	2	C2orf57	2	232457795	Missense_Mutation	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	12055770	232457795	10741578	8	28837											
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238233432	238233432	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:238233432A>T	ENST00000295550.4	-	44	9971	c.9519T>A	c.(9517-9519)agT>agA	p.S3173R	COL6A3_ENST00000347401.3_Missense_Mutation_p.S2972R|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2967R|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2566R|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2973R|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2967R|COL6A3_ENST00000473258.1_5'UTR	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3173	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S3173R(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCCCATCACACTGATGACTC	0.552																																																1	Substitution - Missense(1)	kidney(1)											72	69	70					2																	238233432		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9519T>A	2.37:g.238233432A>T	ENSP00000295550:p.Ser3173Arg		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	5.814	0.334555	0.11013	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88509	-2.39;-2.38;-2.36;-2.36;-2.36;-2.35	5.12	-5.43	0.02632	.	1.240600	0.06190	N	0.681257	T	0.79851	0.4517	L	0.40543	1.245	0.09310	N	1	B;B;B	0.21905	0.037;0.062;0.037	B;B;B	0.18871	0.01;0.023;0.015	T	0.65438	-0.6168	10	0.72032	D	0.01	.	1.9472	0.03359	0.1741:0.2984:0.3404:0.1871	.	2566;2967;3173	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	R	3173;2972;2967;2566;2967;2973	ENSP00000295550:S3173R;ENSP00000315609:S2972R;ENSP00000315873:S2967R;ENSP00000418285:S2566R;ENSP00000386844:S2967R;ENSP00000295546:S2973R	ENSP00000295550:S3173R	S	-	3	2	COL6A3	237898171	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.977000	0.03782	-0.478000	0.06823	0.482000	0.46254	AGT		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		T	238233432	A	T	238233432	3	4	537	1	0	0	0	0	1	0	0	0	3703	156	6	5	18	5	COL6A3	2	238233432	Missense_Mutation	SNP	A	TCGA-CJ-5671-01A-11D-1534-10	5775637	238233432	4965941	9	28838											
PER2	8864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	239180147	239180147	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:239180147A>G	ENST00000254657.3	-	6	857	c.578T>C	c.(577-579)tTt>tCt	p.F193S	PER2_ENST00000355768.2_Missense_Mutation_p.F193S|PER2_ENST00000440245.1_Missense_Mutation_p.F193S|PER2_ENST00000254658.3_Missense_Mutation_p.F193S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	193	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.F193S(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCCACCGCAAACATATCCTG	0.552																																																1	Substitution - Missense(1)	kidney(1)											70	68	69					2																	239180147		2203	4300	6503	SO:0001583	missense	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.578T>C	2.37:g.239180147A>G	ENSP00000254657:p.Phe193Ser		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317096	0.60524	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.64991	0.96;-0.13;0.24;-0.13	5.06	5.06	0.68205	PAS (1);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.86028	2.79	0.80722	D	1	D;P;D;D	0.89917	0.995;0.481;0.995;1.0	D;B;D;D	0.91635	0.917;0.226;0.972;0.999	D	0.83744	0.0205	10	0.87932	D	0	-15.9238	13.0997	0.59212	1.0:0.0:0.0:0.0	.	193;193;193;193	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	S	193	ENSP00000254657:F193S;ENSP00000254658:F193S;ENSP00000397516:F193S;ENSP00000348013:F193S	ENSP00000254657:F193S	F	-	2	0	PER2	238844886	1.000000	0.71417	0.991000	0.47740	0.249000	0.25844	8.995000	0.93534	2.043000	0.60533	0.533000	0.62120	TTT		0.552	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		G	239180147	A	G	239180147	3	3	537	1	0	0	0	0	1	0	0	0	11732	14	1	3	3261	3	PER2	2	239180147	Missense_Mutation	SNP	A	TCGA-CJ-5671-01A-11D-1534-10	946715	239180147	4019226	10	28839											
THAP4	51078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	242545863	242545863	+	Silent	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:242545863C>A	ENST00000407315.1	-	3	1697	c.1266G>T	c.(1264-1266)gtG>gtT	p.V422V	THAP4_ENST00000402136.1_Silent_p.V10V|THAP4_ENST00000402545.1_Silent_p.V10V	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	422							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V422V(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ACAGTGGCTCCACCACTGGGT	0.587																																																1	Substitution - coding silent(1)	kidney(1)											30	26	27					2																	242545863		2203	4295	6498	SO:0001819	synonymous_variant	51078			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1266G>T	2.37:g.242545863C>A			Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	CCDS2551.1																																																																																				0.587	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		A	242545863	C	A	242545863	2	1	537	1	0	0	0	0	0	0	0	1	15851	581	21	4		4	THAP4	2	242545863	Silent	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	3365716	242545863	653510	11	28840											
NKTR	4820	hgsc.bcm.edu;ucsc.edu	37	3	42678973	42678974	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr3:42678973_42678974insA	ENST00000232978.8	+	13	1965_1966	c.1777_1778insA	c.(1777-1779)gaafs	p.E593fs	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	593					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGCACAAAATGAAAATGTAGTA	0.406																																																0																																										SO:0001589	frameshift_variant	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1781dupA	3.37:g.42678977_42678977dupA	ENSP00000232978:p.Glu593fs			Frame_Shift_Ins	INS	ENST00000232978.8	37	CCDS2702.1																																																																																				0.406	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		A	42678974	-	A	42678973	7	5	537	1	0	1	1	0	0	0	0	0	10450	1291	45	0	1823	0	NKTR	3	42678973	Frame_Shift_Ins	INS	-	TCGA-CJ-5671-01A-11D-1534-10		42678973	155343457	12	28841											
SETD2	29072	broad.mit.edu;ucsc.edu	37	3	47144868	47144868	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr3:47144868G>A	ENST00000409792.3	-	7	4927	c.4885C>T	c.(4885-4887)Cac>Tac	p.H1629Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1629	Inhibitor binding.|S-adenosyl-L-methionine binding.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.H1629Y(2)|p.H1126Y(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCACAGCTGTGATTCATGAAA	0.333			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	4	Substitution - Missense(4)	urinary_tract(2)|kidney(2)											171	158	162					3																	47144868		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4885C>T	3.37:g.47144868G>A	ENSP00000386759:p.His1629Tyr		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900072	0.92035	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.95035	-3.59	5.83	5.83	0.93111	SET domain (3);	0.000000	0.64402	D	0.000020	D	0.98560	0.9519	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99482	1.0948	10	0.87932	D	0	.	18.2989	0.90157	0.0:0.0:1.0:0.0	.	1629;1629	F2Z317;Q9BYW2	.;SETD2_HUMAN	Y	1629	ENSP00000386759:H1629Y	ENSP00000386759:H1629Y	H	-	1	0	SETD2	47119872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.400000	0.97290	2.775000	0.95449	0.650000	0.86243	CAC		0.333	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47144868	G	A	47144868	3	1	537	1	0	0	0	0	1	0	0	0	14137	1290	45	2	2869	2	SETD2	3	47144868	Missense_Mutation	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	4465895	47144868	150877562	13	28842											
MYNN	55892	hgsc.bcm.edu;ucsc.edu	37	3	169496863	169496863	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr3:169496863delG	ENST00000349841.5	+	3	1237	c.574delG	c.(574-576)gggfs	p.G192fs	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Frame_Shift_Del_p.G192fs|MYNN_ENST00000392733.1_Frame_Shift_Del_p.G192fs|MYNN_ENST00000356716.4_Frame_Shift_Del_p.G192fs	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CCCGAAAACAGGGCAGAATAA	0.398																																																0													63	63	63					3																	169496863		2203	4300	6503	SO:0001589	frameshift_variant	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.574delG	3.37:g.169496863delG	ENSP00000326240:p.Gly192fs		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Frame_Shift_Del	DEL	ENST00000349841.5	37	CCDS3207.1																																																																																				0.398	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		-	169496863	G	-	169496863	7	5	537	1	0	1	0	1	0	0	0	0	10063	1000	35	0	580	0	MYNN	3	169496863	Frame_Shift_Del	DEL	G	TCGA-CJ-5671-01A-11D-1534-10	122351995	169496863	28525567	14	28843											
VCAN	1462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	82836753	82836753	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr5:82836753C>T	ENST00000265077.3	+	8	8496	c.7931C>T	c.(7930-7932)gCt>gTt	p.A2644V	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.A1657V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2644	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.A2644V(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GATGTTCTGGCTAGCTACACT	0.438																																																1	Substitution - Missense(1)	kidney(1)											115	113	114					5																	82836753		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7931C>T	5.37:g.82836753C>T	ENSP00000265077:p.Ala2644Val		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067320	0.36470	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.47177	0.85;0.85	5.8	4.93	0.64822	.	0.664334	0.14710	N	0.302988	T	0.54319	0.1851	M	0.67953	2.075	0.09310	N	0.999998	P;B	0.51933	0.949;0.067	P;B	0.51415	0.669;0.015	T	0.50389	-0.8834	10	0.44086	T	0.13	.	9.0919	0.36617	0.0:0.825:0.0:0.175	.	1657;2644	P13611-2;P13611	.;CSPG2_HUMAN	V	2644;1657	ENSP00000265077:A2644V;ENSP00000340062:A1657V	ENSP00000265077:A2644V	A	+	2	0	VCAN	82872509	0.000000	0.05858	0.008000	0.14137	0.736000	0.42039	0.597000	0.24059	2.747000	0.94245	0.462000	0.41574	GCT		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82836753	C	T	82836753	3	4	537	1	0	0	0	0	1	0	0	0	17143	797	28	2	7957	2	VCAN	5	82836753	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10		82836753	98078507	15	28844											
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127637113	127637113	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr5:127637113C>T	ENST00000508053.1	-	53	6981	c.6007G>A	c.(6007-6009)Gaa>Aaa	p.E2003K	FBN2_ENST00000262464.4_Missense_Mutation_p.E2003K			P35556	FBN2_HUMAN	fibrillin 2	2003	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E2003K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATAACCTTCGTTACATAGA	0.343																																																2	Substitution - Missense(2)	kidney(2)											130	126	128					5																	127637113		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6007G>A	5.37:g.127637113C>T	ENSP00000424571:p.Glu2003Lys		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362784	0.95877	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92348	-3.02;-3.02	5.53	5.53	0.82687	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.91439	0.7298	N	0.25380	0.74	0.80722	D	1	D	0.61080	0.989	P	0.54270	0.747	D	0.90014	0.4123	10	0.33141	T	0.24	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	2003	P35556	FBN2_HUMAN	K	2003	ENSP00000262464:E2003K;ENSP00000424571:E2003K	ENSP00000262464:E2003K	E	-	1	0	FBN2	127665012	1.000000	0.71417	0.997000	0.53966	0.617000	0.37484	7.587000	0.82613	2.879000	0.98667	0.650000	0.86243	GAA		0.343	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		T	127637113	C	T	127637113	3	4	537	1	0	0	0	0	1	0	0	0	5705	893	31	1	2807	1	FBN2	5	127637113	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	44800360	127637113	53278147	16	28845											
FSTL4	23105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132939626	132939626	+	Silent	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr5:132939626G>A	ENST00000265342.7	-	2	298	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	17						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L17L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGCCGGCAGGGAGGCTCCG	0.532																																																1	Substitution - coding silent(1)	kidney(1)											60	67	65					5																	132939626		2203	4300	6503	SO:0001819	synonymous_variant	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.49C>T	5.37:g.132939626G>A			Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	CCDS34238.1																																																																																				0.532	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		A	132939626	G	A	132939626	2	1	537	1	0	0	0	0	0	0	0	1	6081	991	35	2		2	FSTL4	5	132939626	Silent	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	5302513	132939626	47975634	17	28846											
DNAH8	1769	broad.mit.edu	37	6	38758105	38758105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr6:38758105G>A	ENST00000359357.3	+	18	2308	c.2054G>A	c.(2053-2055)tGg>tAg	p.W685*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W902*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W685*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	685					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W685*(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTGTTAACATGGTCGTCTTTA	0.358																																																2	Substitution - Nonsense(2)	kidney(2)											169	162	164					6																	38758105		2203	4300	6503	SO:0001587	stop_gained	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2054G>A	6.37:g.38758105G>A	ENSP00000352312:p.Trp685*		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	39	7.711465	0.98447	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2811	0.87128	0.0:0.0:1.0:0.0	.	.	.	.	X	890;890;685;685	.	ENSP00000333363:W890X	W	+	2	0	DNAH8	38866083	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	7.509000	0.81698	2.575000	0.86900	0.650000	0.86243	TGG		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38758105	G	A	38758105	4	1	537	1	0	0	0	0	0	1	0	0	4609	1357	47	2	2116	2	DNAH8	6	38758105	Nonsense_Mutation	SNP	G	TCGA-CJ-5671-01A-11D-1534-10		38758105	132356962	18	28847											
TJAP1	93643	broad.mit.edu;ucsc.edu	37	6	43469319	43469319	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr6:43469319C>A	ENST00000372445.5	+	6	560	c.184C>A	c.(184-186)Cgc>Agc	p.R62S	TJAP1_ENST00000436109.2_Missense_Mutation_p.R62S|TJAP1_ENST00000372452.1_Missense_Mutation_p.R62S|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.R62S|TJAP1_ENST00000259751.1_Missense_Mutation_p.R62S|TJAP1_ENST00000438588.2_Missense_Mutation_p.R62S|TJAP1_ENST00000372444.2_Missense_Mutation_p.R62S	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	62					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.R62S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CGCCACCAGACGCACTGAGGC	0.592																																																1	Substitution - Missense(1)	kidney(1)											39	43	42					6																	43469319		2203	4300	6503	SO:0001583	missense	93643			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.184C>A	6.37:g.43469319C>A	ENSP00000361522:p.Arg62Ser		Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	CCDS55004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.149793|4.149793	0.78001|0.78001	.|.	.|.	ENSG00000137221|ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588|ENST00000454762	T;T;T;T;T;T;T;T|.	0.79554|.	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.149133|.	0.42053|.	D|.	0.000774|.	T|T	0.43919|0.43919	0.1269|0.1269	L|L	0.55481|0.55481	1.735|1.735	0.31866|0.31866	N|N	0.62032|0.62032	P;D;P|.	0.71674|.	0.505;0.998;0.946|.	B;D;P|.	0.80764|.	0.148;0.994;0.671|.	T|T	0.43734|0.43734	-0.9373|-0.9373	10|5	0.52906|.	T|.	0.07|.	-7.1808|-7.1808	11.5554|11.5554	0.50743|0.50743	0.2278:0.7722:0.0:0.0|0.2278:0.7722:0.0:0.0	.|.	62;62;62|.	E2QRK7;Q5JTD0;Q5JTD0-2|.	.;TJAP1_HUMAN;.|.	S|K	62|19	ENSP00000361521:R62S;ENSP00000361522:R62S;ENSP00000407080:R62S;ENSP00000390981:R62S;ENSP00000259751:R62S;ENSP00000361530:R62S;ENSP00000361527:R62S;ENSP00000408769:R62S|.	ENSP00000259751:R62S|.	R|T	+|+	1|2	0|0	TJAP1|TJAP1	43577297|43577297	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	4.389000|4.389000	0.59639|0.59639	2.377000|2.377000	0.81083|0.81083	0.449000|0.449000	0.29647|0.29647	CGC|ACG		0.592	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		A	43469319	C	A	43469319	3	1	537	1	0	0	0	0	1	0	0	0	15933	536	19	4	194	4	TJAP1	6	43469319	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	4711214	43469319	127645748	19	28848											
CASP8AP2	9994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90572531	90572532	+	RNA	DNP	TT	TT	GC			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr6:90572531_90572532TT>GC	ENST00000551025.1	+	0	2540_2541									caspase 8 associated protein 2									p.V368V(1)|p.V368G(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAAAGAAAAGTTGATCAAAAAC	0.322																																					Colon(187;1656 2025 17045 31481 39901)											2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																										9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212	Exception_encountered	6.37:g.90572531_90572532delinsGC				Missense_Mutation|Silent	SNP	ENST00000551025.1	37																																																																																					0.322	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		GC	90572532	TT	GC	90572531	1	3	537	0	1	0	0	0	0	0	0	0	2680	1725	60	5		5	CASP8AP2	6	90572531	RNA	DNP	TT	TCGA-CJ-5671-01A-11D-1534-10	47103212	90572531	80542536	20	28849											
RTN4IP1	84816	broad.mit.edu;ucsc.edu	37	6	107067108	107067108	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr6:107067108C>A	ENST00000369063.3	-	4	1054	c.589G>T	c.(589-591)Ggc>Tgc	p.G197C	RTN4IP1_ENST00000539449.1_Missense_Mutation_p.G197C	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	197						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.G197C(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TCATTCAGGCCACCAACTTTG	0.443																																																1	Substitution - Missense(1)	kidney(1)											180	155	163					6																	107067108		2203	4300	6503	SO:0001583	missense	84816			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.589G>T	6.37:g.107067108C>A	ENSP00000358059:p.Gly197Cys		Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497388	0.85069	.	.	ENSG00000130347	ENST00000539449;ENST00000369063	T;T	0.48522	0.81;0.81	6.14	6.14	0.99180	GroES-like (1);	0.090262	0.85682	D	0.000000	T	0.61261	0.2333	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.91635	0.999;0.861	T	0.63010	-0.6732	10	0.66056	D	0.02	-5.8778	13.5646	0.61810	0.0:0.9261:0.0:0.0739	.	197;197	G3V1R2;Q8WWV3	.;RT4I1_HUMAN	C	197	ENSP00000444261:G197C;ENSP00000358059:G197C	ENSP00000358059:G197C	G	-	1	0	RTN4IP1	107173801	1.000000	0.71417	0.978000	0.43139	0.982000	0.71751	5.396000	0.66297	2.937000	0.99478	0.650000	0.86243	GGC		0.443	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			A	107067108	C	A	107067108	3	1	537	1	0	0	0	0	1	0	0	0	13735	594	21	4	625	4	RTN4IP1	6	107067108	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	16494577	107067108	64047959	21	28850											
KIF25	3834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	168443302	168443302	+	Silent	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr6:168443302G>A	ENST00000443060.2	+	9	1282	c.891G>A	c.(889-891)gcG>gcA	p.A297A	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Silent_p.A297A			Q9UIL4	KIF25_HUMAN	kinesin family member 25	297	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A297A(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCAGCCTTGCGGCCCTGGCAG	0.657																																																1	Substitution - coding silent(1)	kidney(1)											103	99	101					6																	168443302		2203	4300	6503	SO:0001819	synonymous_variant	3834			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.891G>A	6.37:g.168443302G>A			O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	CCDS5305.1																																																																																				0.657	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			A	168443302	G	A	168443302	2	1	537	1	0	0	0	0	0	0	0	1	8295	1103	39	1		1	KIF25	6	168443302	Silent	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	61376194	168443302	2671765	22	28851											
NUPL2	11097	hgsc.bcm.edu	37	7	23221811	23221811	+	Missense_Mutation	SNP	A	A	G	rs145987368	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr7:23221811A>G	ENST00000258742.5	+	1	366	c.107A>G	c.(106-108)cAg>cGg	p.Q36R	NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000410002.3_Missense_Mutation_p.Q36R	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	36					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCAACCGCAGCAGCAGCCT	0.642																																																0													51	41	45					7																	23221811		2203	4300	6503	SO:0001583	missense	11097			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.107A>G	7.37:g.23221811A>G	ENSP00000258742:p.Gln36Arg		A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429312	0.25726	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.43688	0.94;0.94;0.94	3.37	-0.0117	0.13991	.	0.351400	0.30093	N	0.010424	T	0.29355	0.0731	L	0.56769	1.78	0.09310	N	1	B	0.32160	0.358	B	0.32805	0.153	T	0.12192	-1.0557	10	0.30854	T	0.27	0.0757	1.0493	0.01576	0.3687:0.3359:0.1191:0.1763	.	36	O15504	NUPL2_HUMAN	R	36	ENSP00000258742:Q36R;ENSP00000387330:Q36R;ENSP00000401475:Q36R	ENSP00000258742:Q36R	Q	+	2	0	NUPL2	23188336	0.739000	0.28196	0.001000	0.08648	0.061000	0.15899	0.682000	0.25335	-0.130000	0.11599	0.533000	0.62120	CAG		0.642	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		G	23221811	A	G	23221811	3	3	537	1	0	0	0	0	1	0	0	0	10777	188	7	3	109	3	NUPL2	7	23221811	Missense_Mutation	SNP	A	TCGA-CJ-5671-01A-11D-1534-10		23221811	135916852	23	28852											
PVRIG	79037	broad.mit.edu	37	7	99818579	99818579	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr7:99818579T>C	ENST00000317271.2	+	6	1049	c.686T>C	c.(685-687)cTt>cCt	p.L229P	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA|AC005071.1_ENST00000410550.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	229						integral component of membrane (GO:0016021)		p.L229P(1)		breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGGCTGCTCTTCACGTCCCT	0.682																																																1	Substitution - Missense(1)	kidney(1)											70	74	72					7																	99818579		2203	4300	6503	SO:0001583	missense	79037			BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.686T>C	7.37:g.99818579T>C	ENSP00000316675:p.Leu229Pro		D6W5U9|Q9BVK3	Missense_Mutation	SNP	ENST00000317271.2	37	CCDS5690.1	.	.	.	.	.	.	.	.	.	.	t	12.52	1.963056	0.34659	.	.	ENSG00000213413	ENST00000317271	T	0.60299	0.2	3.0	1.79	0.24919	.	.	.	.	.	T	0.56615	0.1997	L	0.27053	0.805	0.09310	N	0.999999	D	0.69078	0.997	D	0.63703	0.917	T	0.42275	-0.9461	9	0.66056	D	0.02	.	5.3339	0.15947	0.2863:0.0:0.0:0.7137	.	229	Q6DKI7	PVRIG_HUMAN	P	229	ENSP00000316675:L229P	ENSP00000316675:L229P	L	+	2	0	PVRIG	99656515	0.000000	0.05858	0.018000	0.16275	0.004000	0.04260	-0.400000	0.07241	0.519000	0.28406	-0.700000	0.03674	CTT		0.682	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2	NM_024070		C	99818579	T	C	99818579	3	2	537	1	0	0	0	0	1	0	0	0	12844	1609	56	3	704	3	PVRIG	7	99818579	Missense_Mutation	SNP	T	TCGA-CJ-5671-01A-11D-1534-10	76596768	99818579	59320084	24	28853											
FIS1	51024	broad.mit.edu	37	7	100883107	100883107	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr7:100883107C>T	ENST00000223136.4	-	5	519	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	CLDN15_ENST00000401528.1_5'Flank|FIS1_ENST00000474120.1_3'UTR|FIS1_ENST00000442303.1_3'UTR|CLDN15_ENST00000433422.1_5'Flank|FIS1_ENST00000482199.1_5'UTR|CLDN15_ENST00000308344.5_5'Flank	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	147					calcium-mediated signaling using intracellular calcium source (GO:0035584)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|mitochondrion morphogenesis (GO:0070584)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|peroxisome fission (GO:0016559)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|release of cytochrome c from mitochondria (GO:0001836)	integral component of mitochondrial outer membrane (GO:0031307)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|protein complex (GO:0043234)	receptor binding (GO:0005102)	p.V147M(1)		kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					GACTTGGACACAGCAAGTCCG	0.637																																																1	Substitution - Missense(1)	kidney(1)											28	33	31					7																	100883107		2052	4167	6219	SO:0001583	missense	51024			AF151893	CCDS43626.1	7q22.1	2012-10-01	2006-04-04	2006-01-24	ENSG00000214253	ENSG00000214253			21689	protein-coding gene	gene with protein product	"CGI-135 protein"	609003	"tetratricopeptide repeat domain 11", "fission 1 (mitochondrial outer membrane) homolog (yeast)"	TTC11		14996942, 16010987	Standard	NM_016068		Approved	CGI-135, H_NH0132A01.6, Fis1	uc003uyj.4	Q9Y3D6	OTTHUMG00000157106	ENST00000223136.4:c.439G>A	7.37:g.100883107C>T	ENSP00000223136:p.Val147Met		Q9BTP3	Missense_Mutation	SNP	ENST00000223136.4	37	CCDS43626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.78|14.78	2.637379|2.637379	0.47049|0.47049	.|.	.|.	ENSG00000214253|ENSG00000214253	ENST00000435848|ENST00000223136	.|.	.|.	.|.	4.79|4.79	3.89|3.89	0.44902|0.44902	.|.	.|0.000000	.|0.52532	.|U	.|0.000074	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.20483|0.20483	0.58|0.58	0.31550|0.31550	N|N	0.658811|0.658811	.|P	.|0.41498	.|0.752	.|P	.|0.45681	.|0.49	T|T	0.21484|0.21484	-1.0244|-1.0244	6|9	0.87932|0.24483	D|T	0|0.36	.|.	6.4545|6.4545	0.21922|0.21922	0.0:0.7166:0.1864:0.0969|0.0:0.7166:0.1864:0.0969	.|.	.|147	.|Q9Y3D6	.|FIS1_HUMAN	Y|M	101|147	.|.	ENSP00000413500:C101Y|ENSP00000223136:V147M	C|V	-|-	2|1	0|0	FIS1|FIS1	100669827|100669827	0.997000|0.997000	0.39634|0.39634	0.859000|0.859000	0.33776|0.33776	0.991000|0.991000	0.79684|0.79684	2.716000|2.716000	0.47219|0.47219	1.199000|1.199000	0.43173|0.43173	0.561000|0.561000	0.74099|0.74099	TGT|GTG		0.637	FIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347449.1	NM_016068		T	100883107	C	T	100883107	3	4	537	1	0	0	0	0	1	0	0	0	5899	478	17	2	23	2	FIS1	7	100883107	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	1064528	100883107	58255556	25	28854											
ARHGEF35	445328	broad.mit.edu	37	7	143884368	143884368	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr7:143884368G>A	ENST00000378115.2	-	2	1238	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.P370L	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	370	Glu-rich.							p.P370L(1)		kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CCCGCTGACTGGGACCCCTTT	0.537																																																1	Substitution - Missense(1)	kidney(1)											46	46	46					7																	143884368		1896	3567	5463	SO:0001583	missense	445328			AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"Rho guanine nucleotide exchange factors"	33846	protein-coding gene	gene with protein product			"Rho guanine nucleotide exchange factor (GEF) 5-like"	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1109C>T	7.37:g.143884368G>A	ENSP00000367355:p.Pro370Leu		Q6ZUI2	Missense_Mutation	SNP	ENST00000378115.2	37	CCDS34770.1	.	.	.	.	.	.	.	.	.	.	.	8.132	0.783252	0.16189	.	.	ENSG00000213214	ENST00000378115;ENST00000543357	.	.	.	2.34	1.4	0.22301	.	.	.	.	.	T	0.15478	0.0373	N	0.19112	0.55	0.09310	N	1	P	0.40282	0.711	B	0.32724	0.151	T	0.10405	-1.0631	8	0.46703	T	0.11	.	6.3286	0.21257	0.0:0.0:0.7084:0.2916	.	370	A5YM69	ARG35_HUMAN	L	370	.	ENSP00000367355:P370L	P	-	2	0	ARHGEF35	143515301	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.382000	0.20635	0.284000	0.22305	0.184000	0.17185	CCA		0.537	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702		A	143884368	G	A	143884368	3	1	537	1	0	0	0	0	1	0	0	0	905	1348	47	2	349	2	ARHGEF35	7	143884368	Missense_Mutation	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	43001261	143884368	15254295	26	28855											
PXDNL	137902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	52361653	52361653	+	Silent	SNP	G	G	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr8:52361653G>C	ENST00000356297.4	-	11	1375	c.1275C>G	c.(1273-1275)ccC>ccG	p.P425P	PXDNL_ENST00000543296.1_Silent_p.P425P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	425	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.P425P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTGATCCTTGGGGGTTACTG	0.383																																																1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1275C>G	8.37:g.52361653G>C			B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	CCDS47855.1																																																																																				0.383	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		C	52361653	G	C	52361653	2	2	537	1	0	0	0	0	0	0	0	1	12854	1335	47	4		4	PXDNL	8	52361653	Silent	SNP	G	TCGA-CJ-5671-01A-11D-1534-10		52361653	94002369	27	28856											
ZNF707	286075	broad.mit.edu;ucsc.edu	37	8	144776493	144776493	+	Silent	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr8:144776493C>T	ENST00000532205.1	+	8	1808	c.909C>T	c.(907-909)ctC>ctT	p.L303L	ZNF707_ENST00000454097.1_Silent_p.L303L|ZNF707_ENST00000532158.1_Silent_p.L303L|ZNF707_ENST00000418203.2_Silent_p.L303L|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000358656.4_Silent_p.L303L			Q96C28	ZN707_HUMAN	zinc finger protein 707	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L303L(1)		breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGAGAACCTCAGCCACCACC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											29	37	35					8																	144776493		2174	4285	6459	SO:0001819	synonymous_variant	286075			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"Zinc fingers, C2H2-type", "-"	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.909C>T	8.37:g.144776493C>T			A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	37	CCDS47932.1																																																																																				0.647	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		T	144776493	C	T	144776493	2	4	537	1	0	0	0	0	0	0	0	1	18116	813	29	2		2	ZNF707	8	144776493	Silent	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	92414840	144776493	1587529	28	28857											
SVIL	6840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	29752498	29752498	+	Missense_Mutation	SNP	T	T	C	rs150671744	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr10:29752498T>C	ENST00000355867.4	-	35	6952	c.6200A>G	c.(6199-6201)aAg>aGg	p.K2067R	PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.K981R|SVIL_ENST00000375398.2_Missense_Mutation_p.K2067R|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.K1641R	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2067					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.K2067R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCAGTGATCTTGTTCTCGAT	0.587																																																1	Substitution - Missense(1)	kidney(1)											87	73	78					10																	29752498		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6200A>G	10.37:g.29752498T>C	ENSP00000348128:p.Lys2067Arg		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091131	0.76756	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.14022	2.68;2.72;2.72;2.54	4.65	4.65	0.58169	.	0.158586	0.64402	D	0.000015	T	0.09512	0.0234	N	0.16903	0.455	0.80722	D	1	P;P;P	0.43826	0.551;0.762;0.818	B;B;B	0.41271	0.268;0.352;0.247	T	0.08330	-1.0727	10	0.72032	D	0.01	-29.1947	9.6284	0.39765	0.1557:0.0:0.0:0.8443	.	981;1641;2067	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	R	1641;2067;2067;981	ENSP00000364549:K1641R;ENSP00000364547:K2067R;ENSP00000348128:K2067R;ENSP00000445472:K981R	ENSP00000348128:K2067R	K	-	2	0	SVIL	29792504	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.771000	0.55318	1.937000	0.56155	0.533000	0.62120	AAG		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			C	29752498	T	C	29752498	3	2	537	1	0	0	0	0	1	0	0	0	15426	1609	56	3	460	3	SVIL	10	29752498	Missense_Mutation	SNP	T	TCGA-CJ-5671-01A-11D-1534-10		29752498	105782249	29	28858											
PBLD	64081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70056040	70056040	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr10:70056040A>C	ENST00000358769.2	-	4	468	c.266T>G	c.(265-267)gTg>gGg	p.V89G	PBLD_ENST00000336578.1_Missense_Mutation_p.V56G|PBLD_ENST00000432941.1_Missense_Mutation_p.V89G|PBLD_ENST00000309049.4_Missense_Mutation_p.V89G|PBLD_ENST00000495025.2_Missense_Mutation_p.V89G	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	89					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)	p.V89G(2)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTGAAACAGCACAGCTGCAGA	0.423																																																2	Substitution - Missense(2)	kidney(2)											47	46	46					10																	70056040		2203	4300	6503	SO:0001583	missense	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.266T>G	10.37:g.70056040A>C	ENSP00000351619:p.Val89Gly		A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537484	0.65085	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.4	5.4	0.78164	.	0.070642	0.56097	D	0.000033	T	0.71341	0.3328	H	0.96833	3.89	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.75020	0.985;0.972	T	0.81324	-0.0984	10	0.87932	D	0	-17.4218	12.9657	0.58483	1.0:0.0:0.0:0.0	.	89;89	C9JIM0;P30039	.;PBLD_HUMAN	G	56;89;89;89	ENSP00000338041:V56G;ENSP00000351619:V89G;ENSP00000308466:V89G;ENSP00000395534:V89G	ENSP00000308466:V89G	V	-	2	0	PBLD	69726046	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.195000	0.58400	2.045000	0.60652	0.459000	0.35465	GTG		0.423	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		C	70056040	A	C	70056040	3	2	537	1	0	0	0	0	1	0	0	0	11491	159	6	5	717	5	PBLD	10	70056040	Missense_Mutation	SNP	A	TCGA-CJ-5671-01A-11D-1534-10	40303542	70056040	65478707	30	28859											
ARHGAP19	84986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99006064	99006064	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr10:99006064A>T	ENST00000358531.4	-	7	986	c.958T>A	c.(958-960)Ttg>Atg	p.L320M	ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L311M|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L311M|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L291M|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L320M|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.L320M|ARHGAP19_ENST00000487035.1_5'UTR	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	320					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.L320M(1)|p.L139M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		AAATAGTGCAATCTCGCACAC	0.428																																																2	Substitution - Missense(2)	kidney(2)											82	78	80					10																	99006064		2203	4300	6503	SO:0001583	missense	84986			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.958T>A	10.37:g.99006064A>T	ENSP00000351333:p.Leu320Met		A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551153	0.65311	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.11495	2.99;3.0;3.01;3.01;3.01;2.77	5.66	1.66	0.24008	.	0.101155	0.39759	U	0.001273	T	0.12305	0.0299	N	0.24115	0.695	0.37970	D	0.933242	D;D;D	0.57899	0.981;0.959;0.976	P;P;P	0.57152	0.814;0.625;0.793	T	0.11743	-1.0575	10	0.49607	T	0.09	-2.4796	7.3175	0.26509	0.5457:0.0:0.4543:0.0	.	291;320;311	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	M	320;320;311;320;311;139;291	ENSP00000414774:L320M;ENSP00000324468:L320M;ENSP00000347526:L311M;ENSP00000351333:L320M;ENSP00000360066:L311M;ENSP00000351058:L291M	ENSP00000324468:L320M	L	-	1	2	ARHGAP19	98996054	0.992000	0.36948	0.975000	0.42487	0.916000	0.54674	1.010000	0.29898	0.422000	0.26005	0.528000	0.53228	TTG		0.428	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		T	99006064	A	T	99006064	3	4	537	1	0	0	0	0	1	0	0	0	869	98	4	5	550	5	ARHGAP19	10	99006064	Missense_Mutation	SNP	A	TCGA-CJ-5671-01A-11D-1534-10	28950024	99006064	36528683	31	28860											
DOCK1	1793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129160369	129160369	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr10:129160369A>T	ENST00000280333.6	+	33	3371	c.3262A>T	c.(3262-3264)Ata>Tta	p.I1088L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1088					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.I1088L(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGTGGGCCCAATATTAGAAAT	0.393																																																1	Substitution - Missense(1)	kidney(1)											50	49	49					10																	129160369		2006	4190	6196	SO:0001583	missense	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3262A>T	10.37:g.129160369A>T	ENSP00000280333:p.Ile1088Leu		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	A	17.59	3.427196	0.62733	.	.	ENSG00000150760	ENST00000280333	T	0.56776	0.44	5.15	5.15	0.70609	.	0.104769	0.64402	D	0.000008	T	0.48960	0.1529	L	0.52573	1.65	0.80722	D	1	B;B;B	0.19445	0.011;0.036;0.01	B;B;B	0.18263	0.011;0.021;0.009	T	0.48210	-0.9055	10	0.54805	T	0.06	.	14.8083	0.69974	1.0:0.0:0.0:0.0	.	1088;1154;1088	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	L	1088	ENSP00000280333:I1088L	ENSP00000280333:I1088L	I	+	1	0	DOCK1	129050359	1.000000	0.71417	0.038000	0.18304	0.991000	0.79684	7.219000	0.78000	2.149000	0.67028	0.528000	0.53228	ATA		0.393	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		T	129160369	A	T	129160369	3	4	537	1	0	0	0	0	1	0	0	0	4686	101	4	5	3392	5	DOCK1	10	129160369	Missense_Mutation	SNP	A	TCGA-CJ-5671-01A-11D-1534-10	30154305	129160369	6374378	32	28861											
CTR9	9646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	10789686	10789686	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr11:10789686T>G	ENST00000361367.2	+	15	2364	c.1938T>G	c.(1936-1938)aaT>aaG	p.N646K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	646					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.N646K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATGCAAAGAATCTGTATGCTG	0.348																																																1	Substitution - Missense(1)	kidney(1)											88	93	91					11																	10789686		2201	4294	6495	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1938T>G	11.37:g.10789686T>G	ENSP00000355013:p.Asn646Lys		D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670365	0.47677	.	.	ENSG00000198730	ENST00000361367	T	0.75154	-0.91	5.72	1.77	0.24775	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83505	0.5269	M	0.91818	3.245	0.80722	D	1	P	0.45715	0.865	P	0.52823	0.71	D	0.84456	0.0591	10	0.72032	D	0.01	-21.9635	10.0394	0.42148	0.0:0.3691:0.0:0.6309	.	646	Q6PD62	CTR9_HUMAN	K	646	ENSP00000355013:N646K	ENSP00000355013:N646K	N	+	3	2	CTR9	10746262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.725000	0.25970	0.467000	0.27218	0.482000	0.46254	AAT		0.348	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		G	10789686	T	G	10789686	3	3	537	1	0	0	0	0	1	0	0	0	4026	1432	50	5	1996	5	CTR9	11	10789686	Missense_Mutation	SNP	T	TCGA-CJ-5671-01A-11D-1534-10		10789686	124216830	33	28862											
PC	5091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66616396	66616396	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr11:66616396C>T	ENST00000393958.2	-	22	3604	c.3511G>A	c.(3511-3513)Gac>Aac	p.D1171N	PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Missense_Mutation_p.D1171N|PC_ENST00000393960.1_Missense_Mutation_p.D1171N|PC_ENST00000529047.1_Missense_Mutation_p.D291N	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1171	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.D1171N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATGAGGTCGTCACCTTCCAGT	0.592																																																1	Substitution - Missense(1)	kidney(1)											133	98	110					11																	66616396		2200	4295	6495	SO:0001583	missense	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3511G>A	11.37:g.66616396C>T	ENSP00000377530:p.Asp1171Asn		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256293	0.80246	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.11	5.11	0.69529	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.050185	0.85682	D	0.000000	T	0.57902	0.2085	L	0.31845	0.965	0.80722	D	1	P	0.39920	0.695	P	0.47981	0.563	T	0.60316	-0.7287	10	0.56958	D	0.05	-27.1587	16.0585	0.80822	0.0:1.0:0.0:0.0	.	1171	P11498	PYC_HUMAN	N	291;1171;1171;1171	ENSP00000435905:D291N;ENSP00000377527:D1171N;ENSP00000377530:D1171N;ENSP00000377532:D1171N	ENSP00000377527:D1171N	D	-	1	0	PC	66372972	0.999000	0.42202	0.200000	0.23457	0.979000	0.70002	4.542000	0.60677	2.655000	0.90218	0.655000	0.94253	GAC		0.592	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		T	66616396	C	T	66616396	3	4	537	1	0	0	0	0	1	0	0	0	11499	826	29	2	29	2	PC	11	66616396	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	55826710	66616396	68390120	34	28863											
ALG8	79053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77817939	77817939	+	Silent	SNP	T	T	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr11:77817939T>C	ENST00000299626.5	-	10	1163	c.1092A>G	c.(1090-1092)cgA>cgG	p.R364R	ALG8_ENST00000532552.2_5'UTR|ALG8_ENST00000376156.3_Silent_p.R364R	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	364					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.R364R(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GAGTTAGACATCGGAGAAAGC	0.423																																																1	Substitution - coding silent(1)	kidney(1)											95	94	94					11																	77817939		2200	4292	6492	SO:0001819	synonymous_variant	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1092A>G	11.37:g.77817939T>C			A6NDW6|O60860	Silent	SNP	ENST00000299626.5	37	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	t	10.13	1.266834	0.23136	.	.	ENSG00000159063	ENST00000530608;ENST00000532306	.	.	.	5.29	-2.09	0.07232	.	.	.	.	.	T	0.39911	0.1096	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32348	-0.9910	4	.	.	.	-4.7945	2.0918	0.03659	0.1231:0.2529:0.3755:0.2484	.	.	.	.	G	66;151	.	.	D	-	2	0	ALG8	77495587	0.509000	0.26163	0.978000	0.43139	0.961000	0.63080	-0.445000	0.06845	-0.009000	0.14296	-0.364000	0.07487	GAT		0.423	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079		C	77817939	T	C	77817939	2	2	537	1	0	0	0	0	0	0	0	1	523	1422	50	3		3	ALG8	11	77817939	Silent	SNP	T	TCGA-CJ-5671-01A-11D-1534-10	11201543	77817939	57188577	35	28864											
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103091360	103091360	+	Silent	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr11:103091360C>A	ENST00000375735.2	+	57	9099	c.8955C>A	c.(8953-8955)gtC>gtA	p.V2985V	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.V2985V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2985	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.V418V(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGCCTTTAGTCAATGAAGCTA	0.308																																																1	Substitution - coding silent(1)	kidney(1)											91	89	89					11																	103091360		1832	4090	5922	SO:0001819	synonymous_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8955C>A	11.37:g.103091360C>A			O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																				0.308	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		A	103091360	C	A	103091360	2	1	537	1	0	0	0	0	0	0	0	1	4848	813	29	4		4	DYNC2H1	11	103091360	Silent	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	25273421	103091360	31915156	36	28865											
RAD52	5893	hgsc.bcm.edu;ucsc.edu	37	12	1034639	1034639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:1034639delA	ENST00000358495.3	-	7	658	c.520delT	c.(520-522)tcafs	p.S174fs	RAD52_ENST00000430095.2_Frame_Shift_Del_p.S174fs|RAD52_ENST00000545564.1_Frame_Shift_Del_p.I224fs|RAD52_ENST00000536177.1_Frame_Shift_Del_p.S174fs|RAD52_ENST00000539046.1_Frame_Shift_Del_p.S97fs	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	174					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TTATTTAGTGATCTCAGGTAG	0.418								Homologous recombination																																								0													174	155	162					12																	1034639		2203	4300	6503	SO:0001589	frameshift_variant	5893				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"RAD52 (S. cerevisiae) homolog"			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.520delT	12.37:g.1034639delA	ENSP00000351284:p.Ser174fs		Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Frame_Shift_Del	DEL	ENST00000358495.3	37	CCDS8507.2																																																																																				0.418	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		-	1034639	A	-	1034639	7	5	537	1	0	1	0	1	0	0	0	0	12997	333	12	0	760	0	RAD52	12	1034639	Frame_Shift_Del	DEL	A	TCGA-CJ-5671-01A-11D-1534-10		1034639	132817256	37	28866											
ITFG2	55846	hgsc.bcm.edu;ucsc.edu	37	12	2929366	2929366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:2929366delT	ENST00000228799.2	+	5	660	c.521delT	c.(520-522)ctcfs	p.L174fs	ITFG2_ENST00000419778.2_5'UTR|ITFG2_ENST00000542548.1_Frame_Shift_Del_p.L62fs	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	174					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTGGTGTCCCTCAAGAAATGG	0.607																																																0													79	58	65					12																	2929366		2203	4300	6503	SO:0001589	frameshift_variant	55846			AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.521delT	12.37:g.2929366delT	ENSP00000228799:p.Leu174fs		A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Frame_Shift_Del	DEL	ENST00000228799.2	37	CCDS8513.1																																																																																				0.607	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		-	2929366	T	-	2929366	7	5	537	1	0	1	0	1	0	0	0	0	7872	1551	54	0	539	0	ITFG2	12	2929366	Frame_Shift_Del	DEL	T	TCGA-CJ-5671-01A-11D-1534-10	1894727	2929366	130922529	38	28867											
PTPN6	5777	broad.mit.edu	37	12	7069507	7069507	+	Splice_Site	SNP	T	T	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:7069507T>C	ENST00000318974.9	+	14	1826	c.1582T>C	c.(1582-1584)Tcg>Ccg	p.S528P	PTPN6_ENST00000399448.1_Splice_Site_p.S530P|PTPN6_ENST00000447931.2_Splice_Site_p.S489P|PTPN6_ENST00000539029.1_3'UTR|U47924.27_ENST00000537269.1_lincRNA|PTPN6_ENST00000456013.1_Splice_Site_p.S528P	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	528					abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S528P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CTGCCCACAGTCGCAGAAGGG	0.667																																																1	Substitution - Missense(1)	kidney(1)											54	63	60					12																	7069507		2078	4200	6278	SO:0001630	splice_region_variant	5777				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1582-1T>C	12.37:g.7069507T>C			A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	T	7.568	0.666192	0.14710	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	T;T;T;T	0.14391	2.59;2.55;2.53;2.51	4.86	2.25	0.28309	.	0.608369	0.15572	N	0.255374	T	0.12347	0.0300	L	0.57536	1.79	0.36013	D	0.838238	B;B;B;B;B	0.28933	0.088;0.012;0.228;0.009;0.001	B;B;B;B;B	0.23150	0.02;0.018;0.044;0.012;0.003	T	0.11060	-1.0603	9	.	.	.	.	7.7044	0.28642	0.1381:0.0:0.1444:0.7175	.	516;489;528;528;530	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	P	530;489;528;528	ENSP00000382376:S530P;ENSP00000415979:S489P;ENSP00000326010:S528P;ENSP00000391592:S528P	.	S	+	1	0	PTPN6	6939768	0.995000	0.38212	0.995000	0.50966	0.044000	0.14063	0.769000	0.26604	0.824000	0.34613	0.459000	0.35465	TCG		0.667	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831	Missense_Mutation	C	7069507	T	C	7069507	5	2	537	1	0	0	0	0	0	0	1	0	12798	1681	58	3	1654	3	PTPN6	12	7069507	Splice_Site	SNP	T	TCGA-CJ-5671-01A-11D-1534-10	4140141	7069507	126782388	39	28868											
LRIG3	121227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	59276667	59276667	+	Silent	SNP	T	T	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:59276667T>C	ENST00000320743.3	-	12	1750	c.1464A>G	c.(1462-1464)ccA>ccG	p.P488P	LRIG3_ENST00000379141.4_Silent_p.P428P	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	488	LRRCT.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P488P(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAAAGCCATCTGGGCTAACAG	0.413			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	1	Substitution - coding silent(1)	kidney(1)											90	84	86					12																	59276667		2203	4300	6503	SO:0001819	synonymous_variant	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1464A>G	12.37:g.59276667T>C			Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	CCDS8960.1																																																																																				0.413	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		C	59276667	T	C	59276667	2	2	537	1	0	0	0	0	0	0	0	1	8948	1567	55	3		3	LRIG3	12	59276667	Silent	SNP	T	TCGA-CJ-5671-01A-11D-1534-10	52207160	59276667	74575228	40	28869											
E2F7	144455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	77444477	77444477	+	Silent	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:77444477C>T	ENST00000322886.7	-	4	652	c.417G>A	c.(415-417)agG>agA	p.R139R	E2F7_ENST00000416496.2_Silent_p.R139R	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	139					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R139R(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTCTGCTTGGCCTTTGCTTTT	0.453																																																2	Substitution - coding silent(2)	kidney(2)											152	138	143					12																	77444477		2203	4300	6503	SO:0001819	synonymous_variant	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.417G>A	12.37:g.77444477C>T			A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381888	0.24944	.	.	ENSG00000165891	ENST00000551058	.	.	.	5.84	4.96	0.65561	.	.	.	.	.	T	0.70141	0.3190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69483	-0.5133	4	.	.	.	-22.0213	14.023	0.64568	0.0:0.9279:0.0:0.0721	.	.	.	.	D	17	.	.	G	-	2	0	E2F7	75968608	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.527000	0.35975	1.483000	0.48342	-0.142000	0.14014	GGC		0.453	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		T	77444477	C	T	77444477	2	4	537	1	0	0	0	0	0	0	0	1	4874	738	26	2		2	E2F7	12	77444477	Silent	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	18167810	77444477	56407418	41	28870											
SELPLG	6404	hgsc.bcm.edu	37	12	109017651	109017680	+	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	rs200527674|rs540144714|rs368721402|rs63748999|rs372173288|rs201851784|rs377406736|rs200694582|rs200732108|rs199985195|rs558357966	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:109017651_109017680delGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	ENST00000550948.1	-	2	628_657	c.404_433delAACCAGTGCCCACGGAGGCACAGACCACTC	c.(403-435)caaccagtgcccacggaggcacagaccactcca>cca	p.QPVPTEAQTT135del	SELPLG_ENST00000228463.6_In_Frame_Del_p.QPVPTEAQTT151del|SELPLG_ENST00000388962.3_Splice_Site_p.NQCPR131del			Q14242	SELPL_HUMAN	selectin P ligand	135	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505206}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.Q135P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTGCCAGTGGAGTGGTCTGTGCCTCCGTGGGCACTGGTTGAGTGGTCTG	0.617														558	0.111422	0.0817	0.0879	5008	,	,		27757	0.13		0.0835	False		,,,				2504	0.1779															1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)							,	500,3762		33,434,1664					,	-2	0		dbSNP_129	146	1398,6854		132,1134,2860	no	coding,coding	SELPLG	NM_003006.4,NM_001206609.1	,	165,1568,4524	A1A1,A1R,RR		16.9413,11.7316,15.167	,	,		1898,10616				SO:0001651	inframe_deletion	6404				CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.404_433delAACCAGTGCCCACGGAGGCACAGACCACTC	12.37:g.109017651_109017680delGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	ENSP00000447752:p.Gln135_Thr144del		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Frame_Shift_Del	DEL	ENST00000550948.1	37	CCDS31895.2																																																																																				0.617	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			-	109017680	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	109017651	7	5	537	1	0	1	0	1	0	0	0	0	14026	1174	41	0	809	0	SELPLG	12	109017651	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	TCGA-CJ-5671-01A-11D-1534-10	31573174	109017651	24834244	42	28871											
GIT2	9815	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	110421492	110421492	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:110421492T>A	ENST00000355312.3	-	5	412	c.413A>T	c.(412-414)cAt>cTt	p.H138L	GIT2_ENST00000343646.5_Missense_Mutation_p.H138L|GIT2_ENST00000338373.5_Missense_Mutation_p.H138L|TCHP_ENST00000550780.1_3'UTR|GIT2_ENST00000551209.1_Missense_Mutation_p.H138L|GIT2_ENST00000361006.5_Missense_Mutation_p.H138L|GIT2_ENST00000354574.4_Missense_Mutation_p.H138L|GIT2_ENST00000553118.1_Missense_Mutation_p.H138L|GIT2_ENST00000320063.9_Missense_Mutation_p.H138L|GIT2_ENST00000547815.1_Missense_Mutation_p.H138L|GIT2_ENST00000360185.4_Missense_Mutation_p.H138L|GIT2_ENST00000457474.2_Missense_Mutation_p.H138L|GIT2_ENST00000356259.4_Missense_Mutation_p.H138L	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	138					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H138L(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CACGCTCGAATGGAGTTGCTG	0.388																																																2	Substitution - Missense(2)	kidney(2)											77	72	74					12																	110421492		2203	4300	6503	SO:0001583	missense	9815			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.413A>T	12.37:g.110421492T>A	ENSP00000347464:p.His138Leu		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	T	32	5.111358	0.94339	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063;ENST00000551494	T;T;T;T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.71	5.71	0.89125	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.72118	2.19	0.80722	D	1	P;B;P;P;B;P;P	0.40534	0.592;0.41;0.526;0.526;0.175;0.598;0.72	B;P;B;B;B;B;P	0.46885	0.349;0.475;0.395;0.395;0.171;0.423;0.53	T	0.67964	-0.5534	10	0.16896	T	0.51	.	15.1665	0.72833	0.0:0.0:0.0:1.0	.	138;138;138;138;138;138;138	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	L	138;138;138;138;138;138;138;138;138;138;76;138;138;52	ENSP00000347464:H138L;ENSP00000353312:H138L;ENSP00000346585:H138L;ENSP00000340342:H138L;ENSP00000340938:H138L;ENSP00000348595:H138L;ENSP00000391813:H138L;ENSP00000354282:H138L;ENSP00000447465:H138L;ENSP00000448832:H138L;ENSP00000450348:H138L;ENSP00000323833:H138L	ENSP00000323833:H138L	H	-	2	0	GIT2	108905875	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.027000	0.88791	2.165000	0.68154	0.533000	0.62120	CAT		0.388	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		A	110421492	T	A	110421492	3	1	537	1	0	0	0	0	1	0	0	0	6399	1464	51	5	1968	5	GIT2	12	110421492	Missense_Mutation	SNP	T	TCGA-CJ-5671-01A-11D-1534-10	1403841	110421492	23430403	43	28872											
FRY	10129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32721987	32721987	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr13:32721987C>A	ENST00000380250.3	+	13	1791	c.1295C>A	c.(1294-1296)aCc>aAc	p.T432N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	432						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T432N(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGACTTATAACCATCATCACA	0.438																																																1	Substitution - Missense(1)	kidney(1)											145	137	139					13																	32721987		1851	4092	5943	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1295C>A	13.37:g.32721987C>A	ENSP00000369600:p.Thr432Asn		Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116460	0.56505	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.21932	1.98	5.68	5.68	0.88126	.	0.053828	0.85682	D	0.000000	T	0.17408	0.0418	N	0.14661	0.345	0.80722	D	1	B	0.18310	0.027	B	0.20384	0.029	T	0.06481	-1.0824	10	0.87932	D	0	.	19.8045	0.96525	0.0:1.0:0.0:0.0	.	432	Q5TBA9	FRY_HUMAN	N	432;360	ENSP00000369600:T432N	ENSP00000267067:T360N	T	+	2	0	FRY	31619987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.152000	0.50677	2.694000	0.91930	0.585000	0.79938	ACC		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		A	32721987	C	A	32721987	3	1	537	1	0	0	0	0	1	0	0	0	6065	507	18	4	1345	4	FRY	13	32721987	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10		32721987	82447891	44	28873											
ESD	2098	broad.mit.edu;hgsc.bcm.edu	37	13	47345584	47345584	+	Silent	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr13:47345584G>A	ENST00000378720.3	-	10	998	c.816C>T	c.(814-816)caC>caT	p.H272H	ESD_ENST00000378697.1_Silent_p.H243H	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	272					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)	p.H272H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	GATGTCTGATGTGGTCAGTAA	0.338																																																1	Substitution - coding silent(1)	kidney(1)											168	169	169					13																	47345584		2203	4296	6499	SO:0001819	synonymous_variant	2098			M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"S-formylglutathione hydrolase"	133280	"esterase D/formylglutathione hydrolase"				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.816C>T	13.37:g.47345584G>A			Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Silent	SNP	ENST00000378720.3	37	CCDS9404.1																																																																																				0.338	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			A	47345584	G	A	47345584	2	1	537	1	0	0	0	0	0	0	0	1	5252	1368	48	2		2	ESD	13	47345584	Silent	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	14623597	47345584	67824294	45	28874											
SDCCAG1	9147	broad.mit.edu;ucsc.edu	37	14	50298067	50298067	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr14:50298067A>C	ENST00000298310.5	-	11	1344	c.895T>G	c.(895-897)Ttt>Gtt	p.F299V	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.F257V|NEMF_ENST00000546046.1_Missense_Mutation_p.F299V			O60524	NEMF_HUMAN	nuclear export mediator factor	299					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.F299V(1)		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						TTGGAATAAAATTCATCCACC	0.303																																																1	Substitution - Missense(1)	kidney(1)											101	107	105					14																	50298067		2202	4299	6501	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.895T>G	14.37:g.50298067A>C	ENSP00000298310:p.Phe299Val		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413015	0.83449	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.42	5.42	0.78866	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;0.997	D;D;D;D;D	0.78314	0.984;0.991;0.991;0.991;0.991	T	0.81897	-0.0722	10	0.62326	D	0.03	-15.9715	15.0972	0.72244	1.0:0.0:0.0:0.0	.	299;70;274;257;299	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	V	299;257;299;70;257	ENSP00000298310:F299V;ENSP00000438309:F257V;ENSP00000441016:F299V;ENSP00000452540:F257V	ENSP00000298310:F299V	F	-	1	0	NEMF	49367817	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.409000	0.90223	2.050000	0.60909	0.477000	0.44152	TTT		0.303	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		C	50298067	A	C	50298067	3	2	537	1	0	0	0	0	1	0	0	0	13963	101	4	5	2427	5	SDCCAG1	14	50298067	Missense_Mutation	SNP	A	TCGA-CJ-5671-01A-11D-1534-10		50298067	57051473	46	28875											
SOS2	6655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	50597307	50597307	+	Silent	SNP	T	T	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr14:50597307T>A	ENST00000216373.5	-	20	3523	c.3249A>T	c.(3247-3249)ccA>ccT	p.P1083P	SOS2_ENST00000543680.1_Silent_p.P1050P	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1083					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1083P(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTGGAGAGGTTGGTGCTGACA	0.418																																																2	Substitution - coding silent(2)	kidney(2)											186	162	170					14																	50597307		2203	4300	6503	SO:0001819	synonymous_variant	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3249A>T	14.37:g.50597307T>A			B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	CCDS9697.1																																																																																				0.418	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			A	50597307	T	A	50597307	2	1	537	1	0	0	0	0	0	0	0	1	14943	1799	63	5		5	SOS2	14	50597307	Silent	SNP	T	TCGA-CJ-5671-01A-11D-1534-10	299240	50597307	56752233	47	28876											
TXNDC16	57544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	52922174	52922174	+	Silent	SNP	G	G	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr14:52922174G>C	ENST00000281741.4	-	18	2081	c.1710C>G	c.(1708-1710)acC>acG	p.T570T	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	570					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.T570T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CAGCATATTTGGTTGACCTAT	0.443																																																1	Substitution - coding silent(1)	kidney(1)											173	145	155					14																	52922174		2203	4300	6503	SO:0001819	synonymous_variant	57544			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1710C>G	14.37:g.52922174G>C			A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	CCDS32083.1																																																																																				0.443	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		C	52922174	G	C	52922174	2	2	537	1	0	0	0	0	0	0	0	1	16800	1335	47	4		4	TXNDC16	14	52922174	Silent	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	2324867	52922174	54427366	48	28877											
TMEM63C	57156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77723017	77723017	+	Missense_Mutation	SNP	C	C	T	rs185516701	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr14:77723017C>T	ENST00000298351.4	+	24	2513	c.2369C>T	c.(2368-2370)tCg>tTg	p.S790L		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	790					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.S790L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GAGCTAGACTCGGCCCAGTTC	0.627													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17907	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											85	93	90					14																	77723017		1974	4155	6129	SO:0001583	missense	57156				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2369C>T	14.37:g.77723017C>T	ENSP00000298351:p.Ser790Leu		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	CCDS45141.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	9.509	1.105342	0.20632	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.18502	2.21	5.38	3.41	0.39046	.	0.941123	0.08846	N	0.885111	T	0.18593	0.0446	L	0.54323	1.7	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.05386	-1.0888	10	0.46703	T	0.11	-3.6579	9.3331	0.38034	0.216:0.6577:0.1262:0.0	.	790	Q9P1W3	TM63C_HUMAN	L	790;360	ENSP00000298351:S790L	ENSP00000298351:S790L	S	+	2	0	TMEM63C	76792770	0.002000	0.14202	0.921000	0.36526	0.016000	0.09150	1.771000	0.38542	2.525000	0.85131	0.655000	0.94253	TCG		0.627	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			T	77723017	C	T	77723017	3	4	537	1	0	0	0	0	1	0	0	0	16197	893	31	1	2455	1	TMEM63C	14	77723017	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	24800843	77723017	29626523	49	28878											
ZNF770	54989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	35275034	35275034	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr15:35275034G>A	ENST00000356321.4	-	3	946	c.602C>T	c.(601-603)aCt>aTt	p.T201I		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	201					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.T201I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTTTAAGTGAGTTGACTGTCG	0.338																																																1	Substitution - Missense(1)	kidney(1)											64	61	63					15																	35275034		2201	4298	6499	SO:0001583	missense	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.602C>T	15.37:g.35275034G>A	ENSP00000348673:p.Thr201Ile		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.477983	0.44044	.	.	ENSG00000198146	ENST00000356321	T	0.07908	3.15	5.28	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.204155	0.35585	N	0.003117	T	0.14399	0.0348	L	0.31578	0.945	0.23791	N	0.996835	D	0.65815	0.995	P	0.61477	0.889	T	0.02966	-1.1088	10	0.66056	D	0.02	-9.0497	10.2858	0.43566	0.0729:0.1375:0.7896:0.0	.	201	Q6IQ21	ZN770_HUMAN	I	201	ENSP00000348673:T201I	ENSP00000348673:T201I	T	-	2	0	ZNF770	33062326	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.526000	0.45607	1.412000	0.46977	0.655000	0.94253	ACT		0.338	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		A	35275034	G	A	35275034	3	1	537	1	0	0	0	0	1	0	0	0	18148	1029	36	2	1477	2	ZNF770	15	35275034	Missense_Mutation	SNP	G	TCGA-CJ-5671-01A-11D-1534-10		35275034	67256358	50	28879											
PRTG	283659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	55965850	55965850	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr15:55965850C>T	ENST00000389286.4	-	10	1618	c.1571G>A	c.(1570-1572)aGt>aAt	p.S524N		NM_173814.4	NP_776175.2			protogenin									p.S524N(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACTTGTCAAACTAATTTCAGG	0.448																																																1	Substitution - Missense(1)	kidney(1)											78	79	79					15																	55965850		1854	4091	5945	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1571G>A	15.37:g.55965850C>T	ENSP00000373937:p.Ser524Asn			Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778938	0.90195	.	.	ENSG00000166450	ENST00000389286	T	0.59083	0.29	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67964	-0.5534	10	0.35671	T	0.21	-16.4101	17.7877	0.88543	0.0:1.0:0.0:0.0	.	524	Q2VWP7	PRTG_HUMAN	N	524	ENSP00000373937:S524N	ENSP00000373937:S524N	S	-	2	0	PRTG	53753142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.088000	0.57678	2.428000	0.82296	0.655000	0.94253	AGT		0.448	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		T	55965850	C	T	55965850	3	4	537	1	0	0	0	0	1	0	0	0	12643	565	20	2	1925	2	PRTG	15	55965850	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	20690816	55965850	46565542	51	28880											
IGF1R	3480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	99192822	99192822	+	Silent	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr15:99192822C>T	ENST00000268035.6	+	1	623	c.12C>T	c.(10-12)ggC>ggT	p.G4G	IGF1R_ENST00000558762.1_Silent_p.G4G|RP11-35O15.1_ENST00000560221.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	4					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.G4G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGAAGTCTGGCTCCGGAGGAG	0.468																																																1	Substitution - coding silent(1)	kidney(1)											30	35	33					15																	99192822		2195	4297	6492	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.12C>T	15.37:g.99192822C>T			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																				0.468	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		T	99192822	C	T	99192822	2	4	537	1	0	0	0	0	0	0	0	1	7573	784	28	2		2	IGF1R	15	99192822	Silent	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	43226972	99192822	3338570	52	28881											
KCNG4	93107	broad.mit.edu	37	16	84270394	84270394	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr16:84270394G>T	ENST00000308251.4	-	2	766	c.698C>A	c.(697-699)aCc>aAc	p.T233N	KCNG4_ENST00000568181.1_Missense_Mutation_p.T233N	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	233					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.T233N(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GACGGCTGTGGTGGCCACGAA	0.657																																																1	Substitution - Missense(1)	kidney(1)											38	37	37					16																	84270394		2200	4300	6500	SO:0001583	missense	93107			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.698C>A	16.37:g.84270394G>T	ENSP00000312129:p.Thr233Asn		Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024886	0.75390	.	.	ENSG00000168418	ENST00000308251	D	0.97480	-4.4	5.11	5.11	0.69529	.	0.112837	0.64402	D	0.000013	D	0.98270	0.9427	M	0.76838	2.35	0.40406	D	0.979705	D;D	0.76494	0.964;0.999	P;D	0.71656	0.737;0.974	D	0.99897	1.1151	10	0.87932	D	0	.	17.5437	0.87855	0.0:0.0:1.0:0.0	.	233;233	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	N	233	ENSP00000312129:T233N	ENSP00000312129:T233N	T	-	2	0	KCNG4	82827895	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.042000	0.64202	2.364000	0.80123	0.549000	0.68633	ACC		0.657	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		T	84270394	G	T	84270394	3	4	537	1	0	0	0	0	1	0	0	0	8032	1261	44	4	867	4	KCNG4	16	84270394	Missense_Mutation	SNP	G	TCGA-CJ-5671-01A-11D-1534-10		84270394	6084359	53	28882											
CLEC10A	10462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	6981408	6981408	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr17:6981408A>G	ENST00000254868.4	-	3	420	c.92T>C	c.(91-93)cTg>cCg	p.L31P	CLEC10A_ENST00000576617.1_Missense_Mutation_p.L31P|CLEC10A_ENST00000416562.2_Missense_Mutation_p.L31P|CLEC10A_ENST00000571664.1_Missense_Mutation_p.L31P	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	31					endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.L31P(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GAGACGCTGCAGGAGGGACTG	0.627																																																1	Substitution - Missense(1)	kidney(1)											88	92	90					17																	6981408		2203	4300	6503	SO:0001583	missense	10462			D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"C-type lectin domain containing", "CD molecules"	16916	protein-coding gene	gene with protein product	"macrophage lectin 2 (calcium dependent)"	605999	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.92T>C	17.37:g.6981408A>G	ENSP00000254868:p.Leu31Pro		A8K8J8|Q14538|Q6PIW3	Missense_Mutation	SNP	ENST00000254868.4	37	CCDS11087.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905384	0.52333	.	.	ENSG00000132514	ENST00000254868;ENST00000416562	T;T	0.20463	2.07;2.07	4.43	3.31	0.37934	Hepatic lectin, N-terminal (1);	0.430588	0.17528	N	0.170970	T	0.35595	0.0937	L	0.54323	1.7	0.21499	N	0.999661	D;D;D;B	0.89917	1.0;1.0;1.0;0.343	D;D;D;B	0.97110	0.999;0.999;1.0;0.25	T	0.07578	-1.0765	10	0.33940	T	0.23	.	7.1294	0.25490	0.8002:0.0:0.0:0.1998	.	31;31;31;31	Q8IUN9-3;A8K7G0;Q8IUN9;Q8IUN9-2	.;.;CLC10_HUMAN;.	P	31	ENSP00000254868:L31P;ENSP00000414938:L31P	ENSP00000254868:L31P	L	-	2	0	CLEC10A	6922132	0.004000	0.15560	0.019000	0.16419	0.363000	0.29612	1.152000	0.31663	0.803000	0.34113	0.402000	0.26972	CTG		0.627	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2	NM_006344		G	6981408	A	G	6981408	3	3	537	1	0	0	0	0	1	0	0	0	3497	188	7	3	895	3	CLEC10A	17	6981408	Missense_Mutation	SNP	A	TCGA-CJ-5671-01A-11D-1534-10		6981408	74213802	54	28883											
MAP3K14	100133991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	43347888	43347888	+	RNA	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr17:43347888A>T	ENST00000585780.1	+	0	4950				MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA					MAP3K14 antisense RNA 1									p.C622S(1)									AGAGGGGCGCAGGAGGGTGGG	0.642																																																1	Substitution - Missense(1)	kidney(1)											31	37	35					17																	43347888		1987	4163	6150			9020			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"Long non-coding RNAs"	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43347888A>T				Silent	SNP	ENST00000585780.1	37		.	.	.	.	.	.	.	.	.	.	A	20.3	3.975252	0.74360	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	L	0.31371	0.925	0.49483	D	0.999799	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.73665	-0.3911	8	0.66056	D	0.02	.	14.7178	0.69284	1.0:0.0:0.0:0.0	.	622;152	Q99558;Q6ZMZ1	M3K14_HUMAN;.	S	621	.	ENSP00000342059:C621S	C	-	1	0	MAP3K14	40703671	1.000000	0.71417	0.977000	0.42913	0.270000	0.26580	8.919000	0.92770	2.064000	0.61679	0.459000	0.35465	TGC		0.642	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		T	43347888	A	T	43347888	1	4	537	0	1	0	0	0	0	0	0	0	9250	188	7	5		5	MAP3K14	17	43347888	RNA	SNP	A	TCGA-CJ-5671-01A-11D-1534-10	36366480	43347888	37847322	55	28884											
CUEDC1	404093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	55948719	55948719	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr17:55948719A>G	ENST00000577830.1	-	6	1209	c.796T>C	c.(796-798)Tac>Cac	p.Y266H	CUEDC1_ENST00000360238.2_Missense_Mutation_p.Y266H|CUEDC1_ENST00000577840.1_Missense_Mutation_p.Y129H|CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000407144.2_Missense_Mutation_p.Y266H	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	266								p.Y266H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TGGGATTCGTATTTCAATCGA	0.532																																																1	Substitution - Missense(1)	kidney(1)											98	99	98					17																	55948719		2203	4300	6503	SO:0001583	missense	404093			AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.796T>C	17.37:g.55948719A>G	ENSP00000462717:p.Tyr266His		D3DTZ2|Q9NWD0	Missense_Mutation	SNP	ENST00000577830.1	37	CCDS11599.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323188	0.81580	.	.	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.25414	1.8;1.8	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	M	0.68952	2.095	0.53005	D	0.999962	D	0.69078	0.997	D	0.65010	0.931	T	0.28744	-1.0034	10	0.23891	T	0.37	-1.1694	14.2474	0.65997	1.0:0.0:0.0:0.0	.	266	Q9NWM3	CUED1_HUMAN	H	266	ENSP00000384712:Y266H;ENSP00000353373:Y266H	ENSP00000353373:Y266H	Y	-	1	0	CUEDC1	53303718	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.963000	0.70372	2.107000	0.64212	0.533000	0.62120	TAC		0.532	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		G	55948719	A	G	55948719	3	3	537	1	0	0	0	0	1	0	0	0	4054	449	16	3	384	3	CUEDC1	17	55948719	Missense_Mutation	SNP	A	TCGA-CJ-5671-01A-11D-1534-10	12600831	55948719	25246491	56	28885											
CTDP1	9150	hgsc.bcm.edu	37	18	77475187	77475188	+	In_Frame_Ins	INS	-	-	GGA	rs35893234|rs3833180|rs376153496	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr18:77475187_77475188insGGA	ENST00000299543.7	+	8	1874_1875	c.1727_1728insGGA	c.(1726-1731)atggag>atGGAggag	p.582_583insE	CTDP1_ENST00000075430.7_In_Frame_Ins_p.582_583insE	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	582	Poly-Glu.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GACCAGAGCATggaggaggagg	0.609														299	0.0597045	0.0045	0.0951	5008	,	,		17334	0.1736		0.0239	False		,,,				2504	0.0286															0																																										SO:0001652	inframe_insertion	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1746_1748dupGGA	18.37:g.77475194_77475196dupGGA	ENSP00000299543:p.Glu582_Glu582dup		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	In_Frame_Ins	INS	ENST00000299543.7	37	CCDS12017.1																																																																																				0.609	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		GGA	77475188	-	GGA	77475187	7	5	537	1	0	1	1	0	0	0	0	0	4004	1464	51	0	1757	0	CTDP1	18	77475187	In_Frame_Ins	INS	-	TCGA-CJ-5671-01A-11D-1534-10		77475187	602061	57	28886											
ZNF570	148268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37967302	37967302	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr19:37967302G>A	ENST00000330173.1	+	4	751	c.222G>A	c.(220-222)atG>atA	p.M74I	ZNF570_ENST00000388801.3_De_novo_Start_OutOfFrame|ZNF570_ENST00000586475.1_Missense_Mutation_p.M130I	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M74I(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACCCTGGATGGTGAAGAGAG	0.408																																																1	Substitution - Missense(1)	kidney(1)											95	87	90					19																	37967302		2203	4300	6503	SO:0001583	missense	148268			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.222G>A	19.37:g.37967302G>A	ENSP00000331540:p.Met74Ile		A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	4.361	0.066501	0.08388	.	.	ENSG00000171827	ENST00000330173	T	0.03951	3.75	3.5	-0.0704	0.13748	Krueppel-associated box (2);	.	.	.	.	T	0.04272	0.0118	L	0.39245	1.2	0.28767	N	0.900578	B	0.17038	0.02	B	0.14023	0.01	T	0.37957	-0.9683	9	0.30078	T	0.28	.	6.4601	0.21952	0.1072:0.3527:0.5401:0.0	.	74	Q96NI8	ZN570_HUMAN	I	74	ENSP00000331540:M74I	ENSP00000331540:M74I	M	+	3	0	ZNF570	42659142	0.003000	0.15002	0.723000	0.30687	0.979000	0.70002	0.225000	0.17757	-0.109000	0.12044	0.467000	0.42956	ATG		0.408	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		A	37967302	G	A	37967302	3	1	537	1	0	0	0	0	1	0	0	0	18007	1348	47	2	232	2	ZNF570	19	37967302	Missense_Mutation	SNP	G	TCGA-CJ-5671-01A-11D-1534-10		37967302	21161681	58	28887											
GRIK5	2901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42563630	42563630	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr19:42563630C>A	ENST00000262895.3	-	5	557	c.558G>T	c.(556-558)gaG>gaT	p.E186D	GRIK5_ENST00000301218.4_Missense_Mutation_p.E186D|GRIK5_ENST00000593562.1_Missense_Mutation_p.E186D	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	186					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E186D(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CTGACAGCGTCTCCTTGGAGA	0.607																																																2	Substitution - Missense(2)	kidney(2)											118	93	101					19																	42563630		2203	4300	6503	SO:0001583	missense	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.558G>T	19.37:g.42563630C>A	ENSP00000262895:p.Glu186Asp		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287544	0.40494	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.21734	1.99;1.99	4.62	3.59	0.41128	Extracellular ligand-binding receptor (1);	0.131508	0.49916	D	0.000135	T	0.10551	0.0258	N	0.12182	0.205	0.34597	D	0.716119	B	0.02656	0.0	B	0.04013	0.001	T	0.14699	-1.0463	10	0.28530	T	0.3	.	7.8054	0.29200	0.0:0.7464:0.1634:0.0902	.	186	Q16478	GRIK5_HUMAN	D	186	ENSP00000262895:E186D;ENSP00000301218:E186D	ENSP00000262895:E186D	E	-	3	2	GRIK5	47255470	0.987000	0.35691	1.000000	0.80357	0.996000	0.88848	0.195000	0.17155	1.069000	0.40788	0.549000	0.68633	GAG		0.607	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			A	42563630	C	A	42563630	3	1	537	1	0	0	0	0	1	0	0	0	6779	912	32	4	2444	4	GRIK5	19	42563630	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10	4596328	42563630	16565353	59	28888											
ZNF175	7728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52090388	52090388	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr19:52090388G>T	ENST00000262259.2	+	5	1162	c.804G>T	c.(802-804)aaG>aaT	p.K268N	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	268					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K268N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGTCACTCAAGCAACATCAAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											87	87	87					19																	52090388		2203	4299	6502	SO:0001583	missense	7728			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.804G>T	19.37:g.52090388G>T	ENSP00000262259:p.Lys268Asn		A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.814881	0.00600	.	.	ENSG00000105497	ENST00000262259	T	0.16196	2.36	2.43	-4.86	0.03132	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.12860	0.0312	M	0.69463	2.115	0.44685	D	0.997679	B	0.14012	0.009	B	0.10450	0.005	T	0.18335	-1.0340	9	0.27082	T	0.32	.	2.3581	0.04301	0.5479:0.1245:0.2035:0.1241	.	268	Q9Y473	ZN175_HUMAN	N	268	ENSP00000262259:K268N	ENSP00000262259:K268N	K	+	3	2	ZNF175	56782200	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.569000	0.00428	-2.096000	0.00852	-2.034000	0.00421	AAG		0.428	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		T	52090388	G	T	52090388	3	4	537	1	0	0	0	0	1	0	0	0	17750	962	34	4	818	4	ZNF175	19	52090388	Missense_Mutation	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	9526758	52090388	7038595	60	28889											
ITCH	83737	broad.mit.edu;ucsc.edu	37	20	33026360	33026360	+	Silent	SNP	A	A	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr20:33026360A>G	ENST00000262650.6	+	9	862	c.726A>G	c.(724-726)tcA>tcG	p.S242S	ITCH_ENST00000535650.1_Silent_p.S91S|ITCH_ENST00000374864.4_Silent_p.S201S			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	242					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)	p.S201S(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATTCTCCATCACTCTCAAATG	0.478																																																1	Substitution - coding silent(1)	kidney(1)											160	139	146					20																	33026360		2203	4300	6503	SO:0001819	synonymous_variant	83737			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.726A>G	20.37:g.33026360A>G			A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	CCDS58768.1																																																																																				0.478	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			G	33026360	A	G	33026360	2	3	537	1	0	0	0	0	0	0	0	1	7870	146	6	3		3	ITCH	20	33026360	Silent	SNP	A	TCGA-CJ-5671-01A-11D-1534-10		33026360	29999160	61	28890											
KRTAP19-2	337969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	31859596	31859596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr21:31859596G>T	ENST00000334055.3	-	1	159	c.72C>A	c.(70-72)tgC>tgA	p.C24*		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	24						intermediate filament (GO:0005882)		p.C24*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AACCATATCTGCATCCTTCAT	0.542																																																1	Substitution - Nonsense(1)	kidney(1)											159	154	156					21																	31859596		2203	4300	6503	SO:0001587	stop_gained	337969			AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"Keratin associated proteins"	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.72C>A	21.37:g.31859596G>T	ENSP00000335660:p.Cys24*			Nonsense_Mutation	SNP	ENST00000334055.3	37	CCDS13595.1	.	.	.	.	.	.	.	.	.	.	-	10.54	1.378238	0.24944	.	.	ENSG00000186965	ENST00000334055	.	.	.	3.11	-5.08	0.02929	.	0.738763	0.11547	N	0.553122	.	.	.	.	.	.	0.24421	N	0.994613	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.2556	0.20872	0.5362:0.1354:0.3283:0.0	.	.	.	.	X	24	.	ENSP00000335660:C24X	C	-	3	2	KRTAP19-2	30781467	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.609000	0.02066	-1.428000	0.01989	-0.927000	0.02713	TGC		0.542	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			T	31859596	G	T	31859596	4	4	537	1	0	0	0	0	0	1	0	0	8531	1311	46	4	88	4	KRTAP19-2	21	31859596	Nonsense_Mutation	SNP	G	TCGA-CJ-5671-01A-11D-1534-10		31859596	16270299	62	28891											
DSCR3	10311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	38610801	38610801	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr21:38610801A>G	ENST00000309117.6	-	3	548	c.311T>C	c.(310-312)gTt>gCt	p.V104A	DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000398998.1_Missense_Mutation_p.V56A|DSCR3_ENST00000288304.5_Missense_Mutation_p.V62A|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000476950.1_Missense_Mutation_p.V104A|DSCR3_ENST00000399001.1_Intron	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	104						nucleus (GO:0005634)		p.V104A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CTCATACAGAACTTTGTTACC	0.443																																																1	Substitution - Missense(1)	kidney(1)											169	156	161					21																	38610801		2203	4300	6503	SO:0001583	missense	10311			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.311T>C	21.37:g.38610801A>G	ENSP00000311399:p.Val104Ala		B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	ENST00000309117.6	37	CCDS33553.1	.	.	.	.	.	.	.	.	.	.	A	9.437	1.087056	0.20390	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000476950;ENST00000398998	T	0.06933	3.24	5.41	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	M	0.70275	2.135	0.48696	D	0.999691	B;B	0.14805	0.011;0.011	B;B	0.23018	0.026;0.043	T	0.10847	-1.0612	10	0.08599	T	0.76	-20.5644	10.0957	0.42473	0.8636:0.0:0.1364:0.0	.	104;104	B7Z6B1;O14972	.;DSCR3_HUMAN	A	104;62;104;56	ENSP00000311399:V104A	ENSP00000288304:V62A	V	-	2	0	DSCR3	37532671	0.999000	0.42202	0.175000	0.22980	0.890000	0.51754	4.067000	0.57527	0.443000	0.26582	-0.263000	0.10527	GTT		0.443	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1			G	38610801	A	G	38610801	3	3	537	1	0	0	0	0	1	0	0	0	4773	43	2	3	606	3	DSCR3	21	38610801	Missense_Mutation	SNP	A	TCGA-CJ-5671-01A-11D-1534-10	6751205	38610801	9519094	63	28892											
LARGE	9215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	33780246	33780246	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr22:33780246C>T	ENST00000354992.2	-	9	1508	c.937G>A	c.(937-939)Gag>Aag	p.E313K	LARGE_ENST00000402320.1_Missense_Mutation_p.E313K|LARGE_ENST00000437602.2_Missense_Mutation_p.E313K|LARGE_ENST00000337431.2_Missense_Mutation_p.E313K|LARGE_ENST00000397394.2_Missense_Mutation_p.E313K|LARGE_ENST00000452586.2_Missense_Mutation_p.E112K	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	313					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.E313K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CACATCTGCTCCCATTTCATC	0.488																																					Colon(70;397 1175 4573 19089 45288)											1	Substitution - Missense(1)	kidney(1)											140	119	126					22																	33780246		2203	4300	6503	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.937G>A	22.37:g.33780246C>T	ENSP00000347088:p.Glu313Lys		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683073	0.68157	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602;ENST00000421768	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	L	0.37697	1.125	0.80722	D	1	B;B;B;B	0.14438	0.01;0.002;0.01;0.003	B;B;B;B	0.25614	0.062;0.004;0.042;0.027	T	0.12319	-1.0552	9	.	.	.	-4.0414	19.4661	0.94943	0.0:1.0:0.0:0.0	.	313;112;313;313	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	K	313;313;313;313;112;313;112	ENSP00000347088:E313K;ENSP00000336636:E313K;ENSP00000380549:E313K;ENSP00000385223:E313K;ENSP00000407917:E112K;ENSP00000388544:E313K;ENSP00000403841:E112K	.	E	-	1	0	LARGE	32110246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.234000	0.78134	2.653000	0.90120	0.563000	0.77884	GAG		0.488	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		T	33780246	C	T	33780246	3	4	537	1	0	0	0	0	1	0	0	0	8629	864	30	2	1365	2	LARGE	22	33780246	Missense_Mutation	SNP	C	TCGA-CJ-5671-01A-11D-1534-10		33780246	17524320	64	28893											
MLC1	23209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50518347	50518347	+	Splice_Site	SNP	G	G	A	rs121908343		TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr22:50518347G>A	ENST00000311597.5	-	5	1029	c.423C>T	c.(421-423)aaC>aaT	p.N141N	MLC1_ENST00000431262.2_Splice_Site_p.N111N|MLC1_ENST00000538737.1_Intron|MLC1_ENST00000395876.2_Splice_Site_p.N141N|MLC1_ENST00000450140.2_Intron|MLC1_ENST00000535444.1_Splice_Site_p.N62N	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	141			N -> K (in MLC1; dbSNP:rs121908343). {ECO:0000269|PubMed:11935341}.|N -> S (in MLC1; dbSNP:rs121908344). {ECO:0000269|PubMed:11935341}.		caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.N141N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTGAACTCACGTTTATTGCTG	0.463																																																1	Substitution - coding silent(1)	kidney(1)	GRCh37	CM020785	MLC1	M	rs121908343						190	165	173					22																	50518347		2203	4300	6503	SO:0001630	splice_region_variant	23209			D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.423+1C>T	22.37:g.50518347G>A			B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	CCDS14083.1																																																																																				0.463	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166	Silent	A	50518347	G	A	50518347	5	1	537	1	0	0	0	0	0	0	1	0	9614	1159	40	1	742	1	MLC1	22	50518347	Splice_Site	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	16738101	50518347	786219	65	28894											
VCX3B	425054	hgsc.bcm.edu	37	X	8434347	8434376	+	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA	-	rs113934664|rs112788017|rs199956874|rs139169782|rs113552891		TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chrX:8434347_8434376delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENST00000381032.1	+	3	971_1000	c.664_693delGAACCACTGAGTCAGGAGAGCGAGATGGAA	c.(664-693)gaaccactgagtcaggagagcgagatggaadel	p.EPLSQESEME232del	VCX3B_ENST00000444481.1_In_Frame_Del_p.EPLSQESEME202del|VCX3B_ENST00000381029.4_In_Frame_Del_p.EPLSQESEME200del|VCX3B_ENST00000440654.2_Splice_Site_p.EPLSQ172del|VCX3B_ENST00000453306.1_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	232	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E192K(1)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGA	0.565																																																1	Substitution - Missense(1)	skin(1)																																								SO:0001651	inframe_deletion	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.664_693delGAACCACTGAGTCAGGAGAGCGAGATGGAA	X.37:g.8434347_8434376delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENSP00000370420:p.Glu232_Glu241del		C9JS46|Q4KN12	In_Frame_Del	DEL	ENST00000381032.1	37	CCDS48077.2																																																																																				0.565	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			-	8434376	GAACCACTGAGTCAGGAGAGCGAGATGGAA	-	8434347	7	5	537	1	0	1	0	1	0	0	0	0	17150	1175	41	0	584	0	VCX3B	23	8434347	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCGAGATGGAA	TCGA-CJ-5671-01A-11D-1534-10		8434347	146836213	66	28895											
KLHL4	56062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	86921522	86921522	+	Silent	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chrX:86921522G>T	ENST00000373119.4	+	11	2290	c.2145G>T	c.(2143-2145)gtG>gtT	p.V715V	KLHL4_ENST00000373114.4_Intron	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	715						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V715V(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTGTAGTGGTGAAGCTACCCT	0.343																																																1	Substitution - coding silent(1)	kidney(1)											158	139	145					X																	86921522		2203	4299	6502	SO:0001819	synonymous_variant	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2145G>T	X.37:g.86921522G>T			B2RTW2|Q9Y3J5	Silent	SNP	ENST00000373119.4	37	CCDS14457.1																																																																																				0.343	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			T	86921522	G	T	86921522	2	4	537	1	0	0	0	0	0	0	0	1	8393	1277	45	4		4	KLHL4	23	86921522	Silent	SNP	G	TCGA-CJ-5671-01A-11D-1534-10	78487175	86921522	68349038	67	28896											
ZFY	7544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	Y	2829189	2829189	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chrY:2829189G>A	ENST00000155093.3	+	3	457	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	ZFY_ENST00000431102.1_Intron|ZFY_ENST00000449237.1_Missense_Mutation_p.V20M|ZFY_ENST00000383052.1_Missense_Mutation_p.V46M	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V46M(1)		biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						TTCTAATATTGTGGATTCTGA	0.358																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	7544			L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"Zinc fingers, C2H2-type"	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.136G>A	Y.37:g.2829189G>A	ENSP00000155093:p.Val46Met		B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Missense_Mutation	SNP	ENST00000155093.3	37	CCDS14774.1																																																																																				0.358	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1	NM_003411		A	2829189	G	A	2829189	3	1	537	1	0	0	0	0	1	0	0	0	17667	1377	48	2	142	2	ZFY	24	2829189	Missense_Mutation	SNP	G	TCGA-CJ-5671-01A-11D-1534-10		2829189	56544377	68	28897											
ZMYM1	79830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35579833	35579833	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr1:35579833A>C	ENST00000373330.1	+	11	2576	c.2402A>C	c.(2401-2403)aAg>aCg	p.K801T	ZMYM1_ENST00000359858.4_Missense_Mutation_p.K801T|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	801						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K801T(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAACATGCAAGAAACATATA	0.338																																																1	Substitution - Missense(1)	kidney(1)											99	92	94					1																	35579833		1871	4104	5975	SO:0001583	missense	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2402A>C	1.37:g.35579833A>C	ENSP00000362427:p.Lys801Thr		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	A	3.478	-0.106404	0.06924	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.21361	2.01;2.01;2.01	4.03	2.9	0.33743	Ribonuclease H-like (1);	0.272597	0.26321	N	0.025045	T	0.18002	0.0432	L	0.51422	1.61	0.25900	N	0.983369	P;P	0.46395	0.877;0.734	B;B	0.40636	0.335;0.254	T	0.08554	-1.0716	9	.	.	.	-2.6586	7.9948	0.30261	0.8995:0.0:0.1005:0.0	.	782;801	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	T	801;726;801	ENSP00000352920:K801T;ENSP00000362426:K726T;ENSP00000362427:K801T	.	K	+	2	0	ZMYM1	35352420	0.999000	0.42202	0.932000	0.37286	0.006000	0.05464	1.560000	0.36331	0.896000	0.36366	0.455000	0.32223	AAG		0.338	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		C	35579833	A	C	35579833	3	2	538	1	0	0	0	0	1	0	0	0	17704	72	3	5	2436	5	ZMYM1	1	35579833	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10		35579833	213670788	1	28898											
LRRC7	57554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70518807	70518807	+	Silent	SNP	T	T	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr1:70518807T>C	ENST00000035383.5	+	21	4125	c.4095T>C	c.(4093-4095)ccT>ccC	p.P1365P	LRRC7_ENST00000415775.2_Silent_p.P649P|LRRC7_ENST00000310961.5_Silent_p.P1323P	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1365						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.P1365P(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGGATGTACCTCCGGACACCA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											85	82	83					1																	70518807		2203	4300	6503	SO:0001819	synonymous_variant	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4095T>C	1.37:g.70518807T>C			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																				0.398	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		C	70518807	T	C	70518807	2	2	538	1	0	0	0	0	0	0	0	1	9022	1538	54	3		3	LRRC7	1	70518807	Silent	SNP	T	TCGA-CJ-5672-01A-11D-1534-10	34938974	70518807	178731814	2	28899											
FNDC7	163479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109280146	109280146	+	Splice_Site	SNP	G	G	A	rs572093742		TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr1:109280146G>A	ENST00000370017.3	+	11	2447	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	FNDC7_ENST00000271311.2_Splice_Site_p.V725M|RP11-293A10.3_ENST00000437400.2_RNA	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	724						extracellular region (GO:0005576)		p.V491M(1)|p.V724M(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		ACTTGGAATGGGTAAGTCATT	0.299																																																2	Substitution - Missense(2)	kidney(2)											112	119	117					1																	109280146		2202	4300	6502	SO:0001630	splice_region_variant	163479				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2170+1G>A	1.37:g.109280146G>A			A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392765	0.62066	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	D;D	0.97959	-4.63;-4.63	5.34	5.34	0.76211	.	0.147571	0.45126	D	0.000384	D	0.94745	0.8304	L	0.47716	1.5	0.58432	D	0.999998	B	0.23058	0.079	B	0.20577	0.03	D	0.92620	0.6107	10	0.72032	D	0.01	-2.228	17.5941	0.88006	0.0:0.0:1.0:0.0	.	724	E9PAZ5	.	M	724;725	ENSP00000359034:V724M;ENSP00000271311:V725M	ENSP00000271311:V725M	V	+	1	0	FNDC7	109081669	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.563000	0.67352	2.665000	0.90641	0.655000	0.94253	GTG		0.299	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532	Missense_Mutation	A	109280146	G	A	109280146	5	1	538	1	0	0	0	0	0	0	1	0	5975	1246	43	2	2212	2	FNDC7	1	109280146	Splice_Site	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	38761339	109280146	139970475	3	28900											
GDAP2	54834	broad.mit.edu;ucsc.edu	37	1	118426150	118426150	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr1:118426150A>G	ENST00000369443.5	-	11	1456	c.1207T>C	c.(1207-1209)Tcc>Ccc	p.S403P	GDAP2_ENST00000369442.3_Missense_Mutation_p.S403P|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	403	CRAL-TRIO.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)		p.S403P(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AGGAAGTCGGAGTCCAGGTGA	0.358																																																1	Substitution - Missense(1)	kidney(1)											100	96	97					1																	118426150		2203	4300	6503	SO:0001583	missense	54834			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.1207T>C	1.37:g.118426150A>G	ENSP00000358451:p.Ser403Pro		Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	CCDS897.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.997507	0.54147	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.63417	-0.04;-0.04	4.73	4.73	0.59995	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.112014	0.64402	D	0.000006	T	0.52645	0.1747	L	0.38531	1.155	0.46927	D	0.999259	P;D	0.54397	0.911;0.966	P;P	0.52109	0.563;0.69	T	0.59669	-0.7411	10	0.59425	D	0.04	-15.1757	14.2348	0.65919	1.0:0.0:0.0:0.0	.	403;403	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	P	403	ENSP00000358451:S403P;ENSP00000358450:S403P	ENSP00000358450:S403P	S	-	1	0	GDAP2	118227673	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.675000	0.54605	1.774000	0.52232	0.397000	0.26171	TCC		0.358	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		G	118426150	A	G	118426150	3	3	538	1	0	0	0	0	1	0	0	0	6311	304	11	3	347	3	GDAP2	1	118426150	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	9146004	118426150	130824471	4	28901											
VSIG8	391123	hgsc.bcm.edu;ucsc.edu	37	1	159828569	159828572	+	Frame_Shift_Del	DEL	CTCG	CTCG	-	rs139423041		TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	CTCG	CTCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr1:159828569_159828572delCTCG	ENST00000368100.1	-	2	315_318	c.180_183delCGAG	c.(178-183)atcgagfs	p.IE60fs	RP11-190A12.7_ENST00000544342.1_3'UTR	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	60	Ig-like V-type 1.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CCTGCATCCACTCGATGTCCAGCC	0.583																																																0																																										SO:0001589	frameshift_variant	391123				CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"Immunoglobulin superfamily / V-set domain containing"	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.180_183delCGAG	1.37:g.159828569_159828572delCTCG	ENSP00000357080:p.Ile60fs		Q5VU14	Frame_Shift_Del	DEL	ENST00000368100.1	37	CCDS30913.1																																																																																				0.583	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		-	159828572	CTCG	-	159828569	7	5	538	1	0	1	0	1	0	0	0	0	17231	564	20	0	1085	0	VSIG8	1	159828569	Frame_Shift_Del	DEL	CTCG	TCGA-CJ-5672-01A-11D-1534-10	41402419	159828569	89422052	5	28902											
CFH	3075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	196684863	196684863	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr1:196684863G>A	ENST00000367429.4	+	11	1900	c.1660G>A	c.(1660-1662)Ggt>Agt	p.G554S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	554	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.G554S(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CATAGTGTGTGGTTACAATGG	0.338																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											241	227	232					1																	196684863		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1660G>A	1.37:g.196684863G>A	ENSP00000356399:p.Gly554Ser		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722318	0.30503	.	.	ENSG00000000971	ENST00000367429	T	0.63417	-0.04	5.42	-0.654	0.11443	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.42944	0.1225	L	0.52266	1.64	0.09310	N	1	P	0.34684	0.463	B	0.28232	0.087	T	0.21348	-1.0248	9	0.16896	T	0.51	.	1.5214	0.02516	0.2023:0.2909:0.3578:0.149	.	554	P08603	CFAH_HUMAN	S	554	ENSP00000356399:G554S	ENSP00000356399:G554S	G	+	1	0	CFH	194951486	0.142000	0.22610	0.000000	0.03702	0.002000	0.02628	0.369000	0.20416	-0.080000	0.12685	0.655000	0.94253	GGT		0.338	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		A	196684863	G	A	196684863	3	1	538	1	0	0	0	0	1	0	0	0	3285	1348	47	2	1720	2	CFH	1	196684863	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	36856294	196684863	52565758	6	28903											
LYST	1130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235969775	235969775	+	Silent	SNP	C	C	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr1:235969775C>T	ENST00000389794.3	-	6	2835	c.2661G>A	c.(2659-2661)aaG>aaA	p.K887K	LYST_ENST00000389793.2_Silent_p.K887K|LYST_ENST00000536965.1_Silent_p.K887K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	887					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.K887K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGTTAACAGTCTTCCGTCTCT	0.413																																																1	Substitution - coding silent(1)	kidney(1)											99	101	101					1																	235969775		2203	4300	6503	SO:0001819	synonymous_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2661G>A	1.37:g.235969775C>T			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																				0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235969775	C	T	235969775	2	4	538	1	0	0	0	0	0	0	0	1	9130	912	32	2		2	LYST	1	235969775	Silent	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	39284912	235969775	13280846	7	28904											
GTF3C2	2976	broad.mit.edu;ucsc.edu	37	2	27565792	27565792	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:27565792G>A	ENST00000359541.2	-	3	899	c.470C>T	c.(469-471)tCa>tTa	p.S157L	GTF3C2_ENST00000264720.3_Missense_Mutation_p.S157L|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000589232.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	157					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.S157L(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGTCTTTTGACAACTTCAG	0.557																																																1	Substitution - Missense(1)	kidney(1)											83	83	83					2																	27565792		2203	4300	6503	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.470C>T	2.37:g.27565792G>A	ENSP00000352536:p.Ser157Leu		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557321	0.86231	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.75260	-0.92;-0.92	5.31	5.31	0.75309	.	0.214886	0.32719	N	0.005731	T	0.78227	0.4250	N	0.24115	0.695	0.36885	D	0.889582	D;B;D	0.67145	0.996;0.437;0.996	D;B;D	0.77557	0.99;0.081;0.99	T	0.81514	-0.0898	10	0.49607	T	0.09	-7.7538	16.5206	0.84315	0.0:0.0:1.0:0.0	.	157;157;157	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	L	157	ENSP00000352536:S157L;ENSP00000264720:S157L	ENSP00000264720:S157L	S	-	2	0	GTF3C2	27419296	1.000000	0.71417	0.977000	0.42913	0.952000	0.60782	5.631000	0.67812	2.763000	0.94921	0.563000	0.77884	TCA		0.557	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			A	27565792	G	A	27565792	3	1	538	1	0	0	0	0	1	0	0	0	6875	1294	45	2	2333	2	GTF3C2	2	27565792	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10		27565792	215633581	8	28905											
RAB1A	5861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	65316108	65316108	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:65316108T>C	ENST00000409784.3	-	5	575	c.385A>G	c.(385-387)Acc>Gcc	p.T129A	RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000356214.7_Missense_Mutation_p.T97A|RAB1A_ENST00000409751.1_Missense_Mutation_p.T97A|RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000409892.1_Missense_Mutation_p.T65A	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	129					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cargo loading into COPII-coated vesicle (GO:0090110)|cell migration (GO:0016477)|defense response to bacterium (GO:0042742)|endocytosis (GO:0006897)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|growth hormone secretion (GO:0030252)|GTP catabolic process (GO:0006184)|interleukin-8 secretion (GO:0072606)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|positive regulation of glycoprotein metabolic process (GO:1903020)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle transport along microtubule (GO:0047496)|vesicle-mediated transport (GO:0016192)|virion assembly (GO:0019068)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|melanosome (GO:0042470)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T129A(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						TTCTTTGTGGTCAGATCACAT	0.358																																																1	Substitution - Missense(1)	kidney(1)											86	75	78					2																	65316108		1877	4105	5982	SO:0001583	missense	5861			M28209	CCDS46305.1, CCDS46306.1	2p14	2008-02-05		2002-03-17	ENSG00000138069	ENSG00000138069		"RAB, member RAS oncogene"	9758	protein-coding gene	gene with protein product	"Rab GTPase YPT1 homolog (yeast)"	179508		RAB1		2501306	Standard	NM_004161		Approved	YPT1	uc002sdm.3	P62820	OTTHUMG00000152725	ENST00000409784.3:c.385A>G	2.37:g.65316108T>C	ENSP00000387286:p.Thr129Ala		P11476|Q6FIE7|Q96N61|Q9Y3T2	Missense_Mutation	SNP	ENST00000409784.3	37	CCDS46306.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436263	0.62955	.	.	ENSG00000138069	ENST00000409784;ENST00000409892;ENST00000409751;ENST00000356214	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.6	5.6	0.85130	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	N	0.12502	0.225	0.80722	D	1	B;B;B	0.11235	0.0;0.004;0.0	B;B;B	0.12837	0.002;0.008;0.0	T	0.54098	-0.8344	10	0.23891	T	0.37	.	15.7904	0.78357	0.0:0.0:0.0:1.0	.	97;65;129	B7Z8M7;P62820-2;P62820	.;.;RAB1A_HUMAN	A	129;65;97;97	ENSP00000387286:T129A;ENSP00000386451:T65A;ENSP00000386672:T97A;ENSP00000348546:T97A	ENSP00000348546:T97A	T	-	1	0	RAB1A	65169612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.110000	0.64415	0.455000	0.32223	ACC		0.358	RAB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327572.1	NM_004161		C	65316108	T	C	65316108	3	2	538	1	0	0	0	0	1	0	0	0	12911	1667	58	3	240	3	RAB1A	2	65316108	Missense_Mutation	SNP	T	TCGA-CJ-5672-01A-11D-1534-10	37750316	65316108	177883265	9	28906											
GKN2	200504	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	69177365	69177365	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:69177365C>A	ENST00000328895.4	-	3	205	c.97G>T	c.(97-99)Ggt>Tgt	p.G33C	GKN2_ENST00000481498.1_Missense_Mutation_p.G33C	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	33						extracellular region (GO:0005576)		p.G33C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ACATTGCCACCATTGTTGCTT	0.343																																																1	Substitution - Missense(1)	kidney(1)											94	88	90					2																	69177365		2203	4300	6503	SO:0001583	missense	200504			AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"BRICHOS domain containing"	24588	protein-coding gene	gene with protein product	"down regulated in gastric cancer GDDR", "BRICHOS domain containing 1B"					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.97G>T	2.37:g.69177365C>A	ENSP00000329292:p.Gly33Cys		Q6UWS6	Missense_Mutation	SNP	ENST00000328895.4	37	CCDS33215.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313649	0.40996	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	T;T	0.51817	0.72;0.69	5.28	4.38	0.52667	.	0.162193	0.42548	D	0.000695	T	0.64080	0.2566	M	0.72118	2.19	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.972	T	0.55829	-0.8079	10	0.87932	D	0	-3.4231	10.0645	0.42295	0.0:0.9071:0.0:0.0929	.	33;33	E5RHQ8;Q86XP6	.;GKN2_HUMAN	C	33	ENSP00000329292:G33C;ENSP00000428538:G33C	ENSP00000329292:G33C	G	-	1	0	GKN2	69030869	0.014000	0.17966	0.085000	0.20634	0.475000	0.33008	0.990000	0.29642	2.736000	0.93811	0.655000	0.94253	GGT		0.343	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		A	69177365	C	A	69177365	3	1	538	1	0	0	0	0	1	0	0	0	6427	594	21	4	473	4	GKN2	2	69177365	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	3861257	69177365	174022008	10	28907											
RAB11FIP5	26056	broad.mit.edu	37	2	73315745	73315745	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:73315745G>A	ENST00000258098.6	-	3	1241	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	334					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.S334F(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACAGAGCGAAGAGCGGGAGGC	0.627																																																1	Substitution - Missense(1)	kidney(1)											20	23	22					2																	73315745		2203	4298	6501	SO:0001583	missense	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1001C>T	2.37:g.73315745G>A	ENSP00000258098:p.Ser334Phe		O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991695	0.74703	.	.	ENSG00000135631	ENST00000258098	T	0.66638	-0.22	4.19	4.19	0.49359	.	0.341233	0.28187	N	0.016263	T	0.80523	0.4639	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.87578	0.995;0.998	T	0.83344	-0.0006	10	0.87932	D	0	-12.8058	15.6183	0.76784	0.0:0.0:1.0:0.0	.	334;334	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	F	334	ENSP00000258098:S334F	ENSP00000258098:S334F	S	-	2	0	RAB11FIP5	73169253	1.000000	0.71417	0.948000	0.38648	0.939000	0.58152	6.198000	0.72106	2.335000	0.79485	0.462000	0.41574	TCT		0.627	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		A	73315745	G	A	73315745	3	1	538	1	0	0	0	0	1	0	0	0	12903	942	33	2	972	2	RAB11FIP5	2	73315745	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	4138380	73315745	169883628	11	28908											
NAT8	9027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73868603	73868603	+	Silent	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:73868603G>A	ENST00000272425.3	-	2	302	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)									p.L51L(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGAGTAGGGCGAGGGGCCCCC	0.612																																																1	Substitution - coding silent(1)	kidney(1)											75	89	84					2																	73868603		2203	4300	6503	SO:0001819	synonymous_variant	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.153C>T	2.37:g.73868603G>A				Silent	SNP	ENST00000272425.3	37	CCDS1926.1																																																																																				0.612	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		A	73868603	G	A	73868603	2	1	538	1	0	0	0	0	0	0	0	1	10181	1045	37	1		1	NAT8	2	73868603	Silent	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	552858	73868603	169330770	12	28909											
CNNM4	26504	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	97427956	97427956	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:97427956G>A	ENST00000377075.2	+	1	1318	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	407	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.R407H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GGCTATACTCGCATCCCGGTG	0.517																																																1	Substitution - Missense(1)	kidney(1)											129	120	123					2																	97427956		2203	4300	6503	SO:0001583	missense	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1220G>A	2.37:g.97427956G>A	ENSP00000366275:p.Arg407His		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361899	0.61403	.	.	ENSG00000158158	ENST00000377075	T	0.77750	-1.12	5.05	5.05	0.67936	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	D	0.92270	0.7548	H	0.99705	4.715	0.80722	D	1	D	0.65815	0.995	P	0.55112	0.769	D	0.95906	0.8919	10	0.87932	D	0	-14.9422	17.2051	0.86915	0.0:0.0:1.0:0.0	.	407	Q6P4Q7	CNNM4_HUMAN	H	407	ENSP00000366275:R407H	ENSP00000366275:R407H	R	+	2	0	CNNM4	96791683	1.000000	0.71417	0.995000	0.50966	0.156000	0.22039	9.807000	0.99171	2.354000	0.79902	0.655000	0.94253	CGC		0.517	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		A	97427956	G	A	97427956	3	1	538	1	0	0	0	0	1	0	0	0	3617	1087	38	1	1222	1	CNNM4	2	97427956	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	23559353	97427956	145771417	13	28910											
ERMN	57471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158182140	158182140	+	Silent	SNP	C	C	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:158182140C>T	ENST00000410096.1	-	1	306	c.15G>A	c.(13-15)ccG>ccA	p.P5P	ERMN_ENST00000420719.2_Silent_p.P5P|ERMN_ENST00000409925.1_Silent_p.P5P|ERMN_ENST00000535935.1_5'Flank|ERMN_ENST00000397283.2_Silent_p.P18P|ERMN_ENST00000409216.1_Silent_p.P5P	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	5					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)		p.P18P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TAAATGTAGCCGGAACATCTG	0.453																																																1	Substitution - coding silent(1)	kidney(1)											179	163	168					2																	158182140		1906	4116	6022	SO:0001819	synonymous_variant	57471			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"juxtanodin", "ermin"	610072	"KIAA1189"	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.15G>A	2.37:g.158182140C>T			B4DKA6|Q9ULN1	Silent	SNP	ENST00000410096.1	37	CCDS46431.1																																																																																				0.453	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		T	158182140	C	T	158182140	2	4	538	1	0	0	0	0	0	0	0	1	5237	639	23	1		1	ERMN	2	158182140	Silent	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	60754184	158182140	85017233	14	28911											
TANC1	85461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160080760	160080760	+	Silent	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:160080760G>A	ENST00000263635.6	+	23	3933	c.3696G>A	c.(3694-3696)gaG>gaA	p.E1232E	TANC1_ENST00000454300.1_Silent_p.E1126E	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1232					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.E1232E(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACCTGGTGGAGAAGGGAGCCG	0.602																																																1	Substitution - coding silent(1)	kidney(1)											69	77	74					2																	160080760		2086	4214	6300	SO:0001819	synonymous_variant	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3696G>A	2.37:g.160080760G>A			C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	CCDS42766.1																																																																																				0.602	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			A	160080760	G	A	160080760	2	1	538	1	0	0	0	0	0	0	0	1	15549	933	33	2		2	TANC1	2	160080760	Silent	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	1898620	160080760	83118613	15	28912											
HECW2	57520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	197184391	197184391	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:197184391G>A	ENST00000260983.3	-	9	1405	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L	HECW2_ENST00000409111.1_Missense_Mutation_p.P52L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	408					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P408L(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCCTCTGGGAGGTGAGGTCCT	0.522																																																1	Substitution - Missense(1)	kidney(1)											89	91	90					2																	197184391		2203	4300	6503	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1223C>T	2.37:g.197184391G>A	ENSP00000260983:p.Pro408Leu		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.642048	0.47153	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.33654	1.4;1.46	5.64	5.64	0.86602	.	0.381500	0.29424	N	0.012195	T	0.26810	0.0656	N	0.19112	0.55	0.52099	D	0.999949	B	0.09022	0.002	B	0.08055	0.003	T	0.04053	-1.0981	10	0.22109	T	0.4	.	18.0636	0.89384	0.0:0.0:1.0:0.0	.	408	Q9P2P5	HECW2_HUMAN	L	52;408	ENSP00000386775:P52L;ENSP00000260983:P408L	ENSP00000260983:P408L	P	-	2	0	HECW2	196892636	1.000000	0.71417	0.980000	0.43619	0.891000	0.51852	5.883000	0.69721	2.937000	0.99478	0.650000	0.86243	CCT		0.522	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		A	197184391	G	A	197184391	3	1	538	1	0	0	0	0	1	0	0	0	7045	1000	35	2	3579	2	HECW2	2	197184391	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	37103631	197184391	46014982	16	28913											
SF3B1	23451	broad.mit.edu;ucsc.edu	37	2	198257832	198257832	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:198257832G>A	ENST00000335508.6	-	24	3711	c.3620C>T	c.(3619-3621)tCg>tTg	p.S1207L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1207					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.S1207L(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGATTCAGCGAATCTTCACA	0.458			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	1	Substitution - Missense(1)	kidney(1)											121	106	111					2																	198257832		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3620C>T	2.37:g.198257832G>A	ENSP00000335321:p.Ser1207Leu		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.96|16.96	3.265690|3.265690	0.59540|0.59540	.|.	.|.	ENSG00000115524|ENSG00000115524	ENST00000424674|ENST00000335508	.|T	.|0.62498	.|0.02	5.39|5.39	4.51|4.51	0.55191|0.55191	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49167|0.49167	0.1541|0.1541	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B	.|0.30542	.|0.284	.|B	.|0.26969	.|0.075	T|T	0.51880|0.51880	-0.8649|-0.8649	5|10	.|0.66056	.|D	.|0.02	.|.	13.9274|13.9274	0.63970|0.63970	0.0732:0.0:0.9268:0.0|0.0732:0.0:0.9268:0.0	.|.	.|1207	.|O75533	.|SF3B1_HUMAN	C|L	223|1207	.|ENSP00000335321:S1207L	.|ENSP00000335321:S1207L	R|S	-|-	1|2	0|0	SF3B1|SF3B1	197966077|197966077	1.000000|1.000000	0.71417|0.71417	0.616000|0.616000	0.29078|0.29078	0.962000|0.962000	0.63368|0.63368	9.793000|9.793000	0.99091|0.99091	1.295000|1.295000	0.44724|0.44724	0.491000|0.491000	0.48974|0.48974	CGC|TCG		0.458	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			A	198257832	G	A	198257832	3	1	538	1	0	0	0	0	1	0	0	0	14155	1059	37	1	302	1	SF3B1	2	198257832	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	1073441	198257832	44941541	17	28914											
SATB2	23314	broad.mit.edu;ucsc.edu	37	2	200245089	200245089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:200245089G>A	ENST00000417098.1	-	5	1411	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000443023.1_Nonsense_Mutation_p.Q140*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q199*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q199*|SATB2_ENST00000428695.1_Intron	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	199					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.Q199*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACTGACCTGGGAGAGAGGG	0.507																																					Colon(30;262 767 11040 24421 36230)											1	Substitution - Nonsense(1)	kidney(1)											149	130	137					2																	200245089		2203	4300	6503	SO:0001587	stop_gained	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.595C>T	2.37:g.200245089G>A	ENSP00000401112:p.Gln199*		A8K5Z8|Q3ZB87|Q4V763	Nonsense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	40	8.488578	0.98834	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.1497	19.7691	0.96356	0.0:0.0:1.0:0.0	.	.	.	.	X	199;140;199;199	.	ENSP00000260926:Q199X	Q	-	1	0	SATB2	199953334	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.869000	0.99810	2.689000	0.91719	0.462000	0.41574	CAG		0.507	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		A	200245089	G	A	200245089	4	1	538	1	0	0	0	0	0	1	0	0	13860	1357	47	2	1634	2	SATB2	2	200245089	Nonsense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	1987257	200245089	42954284	18	28915											
NRP2	8828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	206580920	206580920	+	Silent	SNP	T	T	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:206580920T>C	ENST00000357785.5	+	3	286	c.255T>C	c.(253-255)taT>taC	p.Y85Y	NRP2_ENST00000355117.4_Silent_p.Y85Y|NRP2_ENST00000417189.1_Silent_p.Y85Y|NRP2_ENST00000540178.1_Silent_p.Y85Y|NRP2_ENST00000360409.3_Silent_p.Y85Y|NRP2_ENST00000540841.1_Silent_p.Y85Y|NRP2_ENST00000412873.2_Silent_p.Y85Y|NRP2_ENST00000357118.4_Silent_p.Y85Y|NRP2_ENST00000272849.3_Silent_p.Y85Y			Q99435	NELL2_HUMAN	neuropilin 2	0	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.Y85Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CACCCAGGTATGACTTTATCG	0.532																																																2	Substitution - coding silent(2)	kidney(2)											155	146	149					2																	206580920		2203	4300	6503	SO:0001819	synonymous_variant	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.255T>C	2.37:g.206580920T>C			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	CCDS46496.1																																																																																				0.532	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			C	206580920	T	C	206580920	2	2	538	1	0	0	0	0	0	0	0	1	10663	1471	51	3		3	NRP2	2	206580920	Silent	SNP	T	TCGA-CJ-5672-01A-11D-1534-10	6335831	206580920	36618453	19	28916											
STK36	27148	broad.mit.edu	37	2	219557312	219557312	+	Missense_Mutation	SNP	C	C	T	rs145717046		TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:219557312C>T	ENST00000295709.3	+	16	2201	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	STK36_ENST00000392105.3_Missense_Mutation_p.P641L|STK36_ENST00000392106.2_Missense_Mutation_p.P641L|STK36_ENST00000440309.1_Missense_Mutation_p.P641L	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.P641R(1)|p.P641L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ACAGGAGCCCCGCAAGTGAGC	0.572																																																2	Substitution - Missense(2)	lung(1)|kidney(1)						C	LEU/PRO	0,4406		0,0,2203	38	40	39		1922	4	1	2	dbSNP_134	39	2,8598	2.2+/-6.3	0,2,4298	yes	missense	STK36	NM_015690.4	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	641/1316	219557312	2,13004	2203	4300	6503	SO:0001583	missense	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1922C>T	2.37:g.219557312C>T	ENSP00000295709:p.Pro641Leu			Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468753	0.43839	0.0	2.33E-4	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.70631	-0.5;-0.5;0.57;-0.5	4.87	3.99	0.46301	Armadillo-like helical (1);	0.156017	0.30347	N	0.009831	T	0.55689	0.1936	N	0.24115	0.695	0.42002	D	0.990897	B;B	0.16396	0.016;0.017	B;B	0.11329	0.006;0.002	T	0.53837	-0.8382	10	0.46703	T	0.11	-6.8433	11.3442	0.49550	0.0:0.9163:0.0:0.0837	.	641;641	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	L	641	ENSP00000295709:P641L;ENSP00000375955:P641L;ENSP00000375954:P641L;ENSP00000394095:P641L	ENSP00000295709:P641L	P	+	2	0	STK36	219265556	0.755000	0.28372	0.956000	0.39512	0.704000	0.40688	1.463000	0.35277	1.275000	0.44379	0.561000	0.74099	CCG		0.572	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			T	219557312	C	T	219557312	3	4	538	1	0	0	0	0	1	0	0	0	15307	652	23	1	1980	1	STK36	2	219557312	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	12976392	219557312	23642061	20	28917											
CCDC108	255101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219888914	219888914	+	Missense_Mutation	SNP	C	C	A	rs368984324		TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:219888914C>A	ENST00000341552.5	-	15	2501	c.2418G>T	c.(2416-2418)aaG>aaT	p.K806N	CCDC108_ENST00000441968.1_Missense_Mutation_p.K806N|CCDC108_ENST00000453220.1_Missense_Mutation_p.K806N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	806			K -> M (in dbSNP:rs9653262).			integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.K806N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTCAGCAGCTTGCAGTCTT	0.642																																																1	Substitution - Missense(1)	kidney(1)											54	59	57					2																	219888914		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2418G>T	2.37:g.219888914C>A	ENSP00000340776:p.Lys806Asn		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314958	0.23908	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.42900	0.96;0.96;0.96	5.84	3.95	0.45737	.	0.389549	0.22053	N	0.065290	T	0.14743	0.0356	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14615	-1.0466	10	0.13853	T	0.58	-14.1307	2.0808	0.03635	0.2744:0.454:0.1172:0.1544	.	806	Q6ZU64	CC108_HUMAN	N	806	ENSP00000340776:K806N;ENSP00000413377:K806N;ENSP00000409117:K806N	ENSP00000340776:K806N	K	-	3	2	CCDC108	219597158	0.007000	0.16637	0.705000	0.30386	0.775000	0.43874	0.138000	0.16016	1.479000	0.48272	0.561000	0.74099	AAG		0.642	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		A	219888914	C	A	219888914	3	1	538	1	0	0	0	0	1	0	0	0	2745	796	28	4	3443	4	CCDC108	2	219888914	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	331602	219888914	23310459	21	28918											
ZFAND2B	130617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220072990	220072990	+	Silent	SNP	C	C	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr2:220072990C>A	ENST00000289528.5	+	5	642	c.447C>A	c.(445-447)atC>atA	p.I149I	ZFAND2B_ENST00000409594.1_Silent_p.I149I|ZFAND2B_ENST00000409217.1_Silent_p.I149I|ZFAND2B_ENST00000409097.1_Silent_p.I149I|ZFAND2B_ENST00000444522.2_Silent_p.I149I|ZFAND2B_ENST00000409206.1_Silent_p.I149I|ZFAND2B_ENST00000409336.1_Silent_p.I149I	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	149						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)	p.I149I(1)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGCTGCCATCTCCAGAGCAC	0.532																																																1	Substitution - coding silent(1)	kidney(1)											75	62	66					2																	220072990		2203	4300	6503	SO:0001819	synonymous_variant	130617			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.447C>A	2.37:g.220072990C>A			Q8NB98	Silent	SNP	ENST00000289528.5	37	CCDS2435.1																																																																																				0.532	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		A	220072990	C	A	220072990	2	1	538	1	0	0	0	0	0	0	0	1	17633	903	32	4		4	ZFAND2B	2	220072990	Silent	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	184076	220072990	23126383	22	28919											
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10191648	10191648	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr3:10191648G>T	ENST00000256474.2	+	3	1481	c.641G>T	c.(640-642)tGa>tTa	p.*214L	VHL_ENST00000345392.2_Nonstop_Mutation_p.*173L|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	0					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.*214L(1)|p.D213fs(1)|p.?(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATGGGAGATTGAAGATTTCTG	0.458		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	3	Unknown(1)|Complex - frameshift(1)|Nonstop extension(1)	kidney(3)											53	44	47					3																	10191648		2203	4300	6503	SO:0001578	stop_lost	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.641G>T	3.37:g.10191648G>T	ENSP00000256474:p.*214Leuext*14		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	8.125	0.781823	0.16120	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.68	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4204	0.11477	0.1166:0.0:0.6586:0.2248	.	.	.	.	L	214;173;132	.	.	X	+	2	2	VHL	10166648	0.054000	0.20591	0.015000	0.15790	0.007000	0.05969	0.198000	0.17217	1.193000	0.43086	-0.152000	0.13540	TGA		0.458	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191648	G	T	10191648	4	4	538	1	0	0	0	0	0	0	0	0	17167	1285	45	4	651	4	VHL	3	10191648	Nonstop_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10		10191648	187830782	23	28920											
RARB	5915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	25636158	25636158	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr3:25636158T>C	ENST00000404969.1	+	7	1160	c.1160T>C	c.(1159-1161)aTc>aCc	p.I387T	RARB_ENST00000330688.4_Missense_Mutation_p.I380T|RARB_ENST00000437042.2_Missense_Mutation_p.I268T|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.I268T			P10826	RARB_HUMAN	retinoic acid receptor, beta	387	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.I387T(1)|p.I380T(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CTCCGTAGCATCAGTGCTAAA	0.413																																																2	Substitution - Missense(2)	kidney(2)											118	111	114					3																	25636158		2203	4300	6503	SO:0001583	missense	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1160T>C	3.37:g.25636158T>C	ENSP00000385865:p.Ile387Thr		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	T	23.4	4.409932	0.83340	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.4	5.4	0.78164	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	L	0.60957	1.885	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.85130	0.995;0.997	T	0.64002	-0.6509	10	0.87932	D	0	.	14.3014	0.66355	0.0:0.0:0.0:1.0	.	387;380	P10826;F1D8S6	RARB_HUMAN;.	T	387;387;387;268;380;268	ENSP00000373282:I387T;ENSP00000385865:I387T;ENSP00000398840:I268T;ENSP00000332296:I380T;ENSP00000391391:I268T	ENSP00000332296:I380T	I	+	2	0	RARB	25611162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.977000	0.88081	2.186000	0.69663	0.533000	0.62120	ATC		0.413	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		C	25636158	T	C	25636158	3	2	538	1	0	0	0	0	1	0	0	0	13059	1435	50	3	1165	3	RARB	3	25636158	Missense_Mutation	SNP	T	TCGA-CJ-5672-01A-11D-1534-10	15444510	25636158	172386272	24	28921											
PDHB	5162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	58416621	58416621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr3:58416621G>A	ENST00000302746.6	-	6	394	c.352C>T	c.(352-354)Caa>Taa	p.Q118*	PDHB_ENST00000474765.1_Nonsense_Mutation_p.Q100*|RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000485460.1_Nonsense_Mutation_p.Q118*	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	118					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.Q118*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	TCAATGGCTTGCATGGAGAAA	0.458																																																1	Substitution - Nonsense(1)	kidney(1)											86	92	90					3																	58416621		2203	4300	6503	SO:0001587	stop_gained	5162				CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.352C>T	3.37:g.58416621G>A	ENSP00000307241:p.Gln118*		B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Nonsense_Mutation	SNP	ENST00000302746.6	37	CCDS2890.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112871	0.94339	.	.	ENSG00000168291	ENST00000302746;ENST00000383714;ENST00000485460;ENST00000474765	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.2485	19.8946	0.96949	0.0:0.0:1.0:0.0	.	.	.	.	X	118;100;118;100	.	ENSP00000307241:Q118X	Q	-	1	0	PDHB	58391661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.222000	0.95196	2.937000	0.99478	0.650000	0.86243	CAA		0.458	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353558.1			A	58416621	G	A	58416621	4	1	538	1	0	0	0	0	0	1	0	0	11668	1328	46	2	747	2	PDHB	3	58416621	Nonsense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	32780463	58416621	139605809	25	28922											
COX17	10063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	119393997	119393997	+	Nonstop_Mutation	SNP	C	C	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr3:119393997C>A	ENST00000261070.2	-	2	283	c.191G>T	c.(190-192)tGa>tTa	p.*64L	COX17_ENST00000484810.1_Nonstop_Mutation_p.*99L|COX17_ENST00000497116.1_Nonstop_Mutation_p.*64L	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	0					brain development (GO:0007420)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|heart development (GO:0007507)	cytoplasm (GO:0005737)|mitochondrial intermembrane space (GO:0005758)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)	p.*64L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CTTACCATTTCATATTTTAAA	0.368																																																1	Nonstop extension(1)	kidney(1)											117	113	114					3																	119393997		2203	4300	6503	SO:0001578	stop_lost	10063			L77701	CCDS2993.1	3q13.33	2013-05-23	2013-05-23		ENSG00000138495	ENSG00000138495		"Mitochondrial respiratory chain complex assembly factors"	2264	protein-coding gene	gene with protein product		604813	"COX17 (yeast) homolog, cytochrome c oxidase assembly protein", "COX17 homolog, cytochrome c oxidase assembly protein (yeast)", "COX17 homolog, cytochrome c oxidase assembly protein (S. cerevisiae)", "COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)", "cytochrome c oxidase assembly homolog 17 (yeast)"			9050918, 21816817	Standard	NM_005694		Approved		uc003ecz.1	Q14061	OTTHUMG00000159433	ENST00000261070.2:c.191G>T	3.37:g.119393997C>A			B2R5D2|D3DN84|Q3MHD6	Missense_Mutation	SNP	ENST00000261070.2	37	CCDS2993.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657966	0.29425	.	.	ENSG00000138495	ENST00000261070;ENST00000484810;ENST00000497116	.	.	.	5.65	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4969	0.44783	0.0:0.9046:0.0:0.0954	.	.	.	.	L	64;99;64	.	.	X	-	2	2	COX17	120876687	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	0.880000	0.28159	1.543000	0.49345	0.655000	0.94253	TGA		0.368	COX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355297.2	NM_005694		A	119393997	C	A	119393997	4	1	538	1	0	0	0	0	0	0	0	0	3768	837	29	4	4	4	COX17	3	119393997	Nonstop_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	60977376	119393997	78628433	26	28923											
COL6A5	256076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130174477	130174477	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr3:130174477C>A	ENST00000432398.2	+	37	7251	c.6757C>A	c.(6757-6759)Caa>Aaa	p.Q2253K	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q2253K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2253	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q292K(1)|p.Q2253K(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGAAAAAGATCAAAAATCTGC	0.333																																																2	Substitution - Missense(2)	kidney(2)											49	48	49					3																	130174477		1804	4064	5868	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6757C>A	3.37:g.130174477C>A	ENSP00000390895:p.Gln2253Lys		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.821|3.821	-0.037685|-0.037685	0.07497|0.07497	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88818|.	-2.34;-2.43;-0.87;-0.75|.	4.26|4.26	0.026|0.026	0.14148|0.14148	.|.	2.119150|.	0.02670|.	N|.	0.108475|.	T|.	0.21841|.	0.0526|.	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|.	0.30031|.	-0.9992|.	10|.	0.02654|.	T|.	1|.	.|.	8.2937|8.2937	0.31973|0.31973	0.3027:0.5542:0.1431:0.0|0.3027:0.5542:0.1431:0.0	.|.	2253;2253|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	K|X	2253;2253;196;88|504	ENSP00000390895:Q2253K;ENSP00000265379:Q2253K;ENSP00000362250:Q196K;ENSP00000424968:Q88K|.	ENSP00000265379:Q2253K|.	Q|S	+|+	1|2	0|0	COL6A5|COL6A5	131657167|131657167	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.464000|-0.464000	0.06688|0.06688	0.170000|0.170000	0.19704|0.19704	-0.846000|-0.846000	0.03041|0.03041	CAA|TCA		0.333	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		A	130174477	C	A	130174477	3	1	538	1	0	0	0	0	1	0	0	0	3704	827	29	4	6899	4	COL6A5	3	130174477	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	10780480	130174477	67847953	27	28924											
KCNAB1	7881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	156175241	156175241	+	Splice_Site	SNP	G	G	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr3:156175241G>T	ENST00000490337.1	+	4	421		c.e4-1		KCNAB1_ENST00000389634.5_Splice_Site|KCNAB1_ENST00000302490.8_Splice_Site|KCNAB1_ENST00000471742.1_Splice_Site|KCNAB1_ENST00000497291.1_Splice_Site|KCNAB1_ENST00000389636.5_Splice_Site	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.?(3)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCCCTTGCAGGTTGCTGAAC	0.473																																																3	Unknown(3)	kidney(3)											192	170	177					3																	156175241		2203	4300	6503	SO:0001630	splice_region_variant	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.358-1G>T	3.37:g.156175241G>T			A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Splice_Site	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527517	0.64860	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8543	0.70323	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNAB1	157657935	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.919000	0.87513	2.554000	0.86153	0.655000	0.94253	.		0.473	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	Intron	T	156175241	G	T	156175241	5	4	538	1	0	0	0	0	0	0	1	0	8011	1014	35	4	842	4	KCNAB1	3	156175241	Splice_Site	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	26000764	156175241	41847189	28	28925											
MECOM	2122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	168833688	168833688	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr3:168833688C>A	ENST00000464456.1	-	7	2608	c.1408G>T	c.(1408-1410)Gtg>Ttg	p.V470L	MECOM_ENST00000468789.1_Missense_Mutation_p.V470L|MECOM_ENST00000460814.1_Missense_Mutation_p.V470L|MECOM_ENST00000494292.1_Missense_Mutation_p.V658L|MECOM_ENST00000472280.1_Missense_Mutation_p.V471L|MECOM_ENST00000433243.2_Missense_Mutation_p.V471L|MECOM_ENST00000264674.3_Missense_Mutation_p.V535L|MECOM_ENST00000392736.3_Missense_Mutation_p.V470L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V470L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAATCATTCACAGCTCCTGAC	0.398																																																1	Substitution - Missense(1)	kidney(1)											302	271	282					3																	168833688		2203	4300	6503	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1408G>T	3.37:g.168833688C>A	ENSP00000419770:p.Val470Leu		Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574312	0.65878	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05717	3.45;3.44;3.4;3.54;3.4;3.44;3.4;3.54	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000009	T	0.22704	0.0548	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.996;0.994;0.996;0.994	D;D;D;D;D	0.77557	0.99;0.99;0.978;0.99;0.978	T	0.00027	-1.2308	10	0.66056	D	0.02	-13.4055	20.1162	0.97934	0.0:1.0:0.0:0.0	.	658;471;658;535;470	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	L	535;470;470;471;658;470;470;471	ENSP00000264674:V535L;ENSP00000376493:V470L;ENSP00000419770:V470L;ENSP00000420048:V471L;ENSP00000417899:V658L;ENSP00000419995:V470L;ENSP00000420466:V470L;ENSP00000394302:V471L	ENSP00000264674:V535L	V	-	1	0	MECOM	170316382	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.071000	0.71229	2.756000	0.94617	0.655000	0.94253	GTG		0.398	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		A	168833688	C	A	168833688	3	1	538	1	0	0	0	0	1	0	0	0	9424	478	17	4	1787	4	MECOM	3	168833688	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	12658447	168833688	29188742	29	28926											
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	79308552	79308552	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr4:79308552A>T	ENST00000325942.6	+	29	4112	c.3672A>T	c.(3670-3672)gaA>gaT	p.E1224D	FRAS1_ENST00000264895.6_Missense_Mutation_p.E1224D	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1224					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.E1224D(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGAGAAATGAAGTTCTCCACA	0.468																																																3	Substitution - Missense(3)	kidney(3)											78	76	77					4																	79308552		1951	4146	6097	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3672A>T	4.37:g.79308552A>T	ENSP00000326330:p.Glu1224Asp		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861541	0.51482	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.55588	0.51;0.51	5.6	-2.91	0.05631	.	0.132195	0.50627	D	0.000108	T	0.56156	0.1966	M	0.70595	2.14	0.58432	D	0.999996	D;D	0.62365	0.985;0.991	P;P	0.57204	0.724;0.815	T	0.55198	-0.8178	10	0.34782	T	0.22	.	7.3455	0.26660	0.4662:0.1963:0.3375:0.0	.	1224;1224	E9PHH6;A2RRR8	.;.	D	1224	ENSP00000326330:E1224D;ENSP00000264895:E1224D	ENSP00000264895:E1224D	E	+	3	2	FRAS1	79527576	0.358000	0.24947	0.072000	0.20136	0.406000	0.30931	0.252000	0.18278	-0.566000	0.06054	-0.898000	0.02899	GAA		0.468	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			T	79308552	A	T	79308552	3	4	538	1	0	0	0	0	1	0	0	0	6044	69	3	5	3786	5	FRAS1	4	79308552	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10		79308552	111845724	30	28927											
BBS12	166379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	123664977	123664977	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr4:123664977A>C	ENST00000314218.3	+	2	2123	c.1930A>C	c.(1930-1932)Aat>Cat	p.N644H	BBS12_ENST00000542236.1_Missense_Mutation_p.N644H	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	644					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.N644H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TAGTAAACTAAATAGTAGAAT	0.378									Bardet-Biedl syndrome																																							1	Substitution - Missense(1)	kidney(1)											47	48	48					4																	123664977		2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1930A>C	4.37:g.123664977A>C	ENSP00000319062:p.Asn644His		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.722447	0.30503	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.69685	-0.42;-0.42	5.63	4.42	0.53409	.	0.505342	0.22238	N	0.062739	T	0.69672	0.3137	L	0.51422	1.61	0.09310	N	1	D	0.56287	0.975	P	0.55011	0.766	T	0.60682	-0.7215	10	0.41790	T	0.15	-38.6383	10.1735	0.42924	0.8508:0.0:0.0:0.1492	.	644	Q6ZW61	BBS12_HUMAN	H	644	ENSP00000319062:N644H;ENSP00000438273:N644H	ENSP00000319062:N644H	N	+	1	0	BBS12	123884427	0.005000	0.15991	0.021000	0.16686	0.534000	0.34807	1.916000	0.39986	0.929000	0.37192	0.533000	0.62120	AAT		0.378	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		C	123664977	A	C	123664977	3	2	538	1	0	0	0	0	1	0	0	0	1337	14	1	5	1932	5	BBS12	4	123664977	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	44356425	123664977	67489299	31	28928											
SORBS2	8470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	186548090	186548090	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr4:186548090C>T	ENST00000284776.7	-	12	1327	c.818G>A	c.(817-819)aGt>aAt	p.S273N	SORBS2_ENST00000355634.5_Missense_Mutation_p.S373N|SORBS2_ENST00000418609.1_Missense_Mutation_p.S177N|SORBS2_ENST00000393528.3_Missense_Mutation_p.S366N|SORBS2_ENST00000449407.2_Missense_Mutation_p.S344N|SORBS2_ENST00000431808.1_Missense_Mutation_p.S273N|SORBS2_ENST00000319471.9_Missense_Mutation_p.S431N|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000437304.2_Missense_Mutation_p.S524N|SORBS2_ENST00000448662.2_Missense_Mutation_p.S361N	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	273					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.S361N(1)|p.S273N(1)|p.S366N(1)|p.S524N(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CCTGCTCGCACTTTGATCTCC	0.552																																					Esophageal Squamous(153;41 2433 9491 36028)											4	Substitution - Missense(4)	kidney(4)											125	123	124					4																	186548090		2203	4300	6503	SO:0001583	missense	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.818G>A	4.37:g.186548090C>T	ENSP00000284776:p.Ser273Asn		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.152|1.152	-0.646316|-0.646316	0.03531|0.03531	.|.	.|.	ENSG00000154556|ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974|ENST00000445625	T;T;T;T;T;T;T;T;T;T;T|.	0.34275|.	1.5;1.58;1.5;1.38;1.37;1.38;1.58;1.5;1.65;1.55;2.67|.	5.16|5.16	0.00452|0.00452	0.14058|0.14058	.|.	0.368951|.	0.35708|.	N|.	0.003036|.	T|T	0.09247|0.09247	0.0228|0.0228	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.15141|.	0.0;0.002;0.0;0.0;0.0;0.012;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.002|.	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.14578|.	0.001;0.007;0.0;0.001;0.0;0.011;0.001;0.001;0.001;0.0;0.0;0.0;0.001;0.001;0.007|.	T|T	0.27123|0.27123	-1.0083|-1.0083	10|5	0.11794|.	T|.	0.64|.	-0.9705|-0.9705	0.8027|0.8027	0.01078|0.01078	0.1678:0.2207:0.3325:0.279|0.1678:0.2207:0.3325:0.279	.|.	336;366;361;177;192;249;391;373;273;344;524;361;391;345;366|.	B7Z3D7;G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2|.	.;.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.|.	N|M	273;361;273;177;524;431;344;373;366;391;149|219	ENSP00000284776:S273N;ENSP00000409158:S361N;ENSP00000411764:S273N;ENSP00000397482:S177N;ENSP00000396008:S524N;ENSP00000322182:S431N;ENSP00000397262:S344N;ENSP00000347852:S373N;ENSP00000377162:S366N;ENSP00000321983:S391N;ENSP00000401818:S149N|.	ENSP00000284776:S273N|.	S|V	-|-	2|1	0|0	SORBS2|SORBS2	186785084|186785084	0.180000|0.180000	0.23148|0.23148	0.001000|0.001000	0.08648|0.08648	0.021000|0.021000	0.10359|0.10359	0.819000|0.819000	0.27308|0.27308	0.251000|0.251000	0.21505|0.21505	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.552	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		T	186548090	C	T	186548090	3	4	538	1	0	0	0	0	1	0	0	0	14934	565	20	2	2524	2	SORBS2	4	186548090	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	62883113	186548090	4606186	32	28929											
CTNNA1	1495	broad.mit.edu;ucsc.edu	37	5	138261073	138261073	+	Silent	SNP	A	A	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr5:138261073A>C	ENST00000302763.7	+	13	1966	c.1876A>C	c.(1876-1878)Agg>Cgg	p.R626R	CTNNA1_ENST00000540387.1_Silent_p.R256R|CTNNA1_ENST00000518825.1_Silent_p.R626R|CTNNA1_ENST00000355078.5_Silent_p.R523R	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	626					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.R626R(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCGGGACATCAGGAAAGCAGT	0.488																																																1	Substitution - coding silent(1)	kidney(1)											102	93	96					5																	138261073		2203	4300	6503	SO:0001819	synonymous_variant	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1876A>C	5.37:g.138261073A>C			Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	CCDS34243.1																																																																																				0.488	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		C	138261073	A	C	138261073	2	2	538	1	0	0	0	0	0	0	0	1	4014	179	7	5		5	CTNNA1	5	138261073	Silent	SNP	A	TCGA-CJ-5672-01A-11D-1534-10		138261073	42654187	33	28930											
PCDHB3	56132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140481311	140481311	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr5:140481311T>G	ENST00000231130.2	+	1	1078	c.1078T>G	c.(1078-1080)Tcg>Gcg	p.S360A	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	360	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S360A(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGAGAACTCGGGAGAGAC	0.478																																																1	Substitution - Missense(1)	kidney(1)											88	84	85					5																	140481311		2203	4300	6503	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1078T>G	5.37:g.140481311T>G	ENSP00000231130:p.Ser360Ala		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	4.376	0.069355	0.08436	.	.	ENSG00000113205	ENST00000231130	T	0.46819	0.86	4.93	4.93	0.64822	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.26919	0.0659	N	0.11870	0.19	0.22213	N	0.999285	B	0.12013	0.005	B	0.15870	0.014	T	0.15838	-1.0423	9	0.16420	T	0.52	.	7.8183	0.29274	0.0:0.1275:0.0:0.8725	.	360	Q9Y5E6	PCDB3_HUMAN	A	360	ENSP00000231130:S360A	ENSP00000231130:S360A	S	+	1	0	PCDHB3	140461495	0.000000	0.05858	0.975000	0.42487	0.686000	0.39977	-0.512000	0.06313	1.975000	0.57531	0.533000	0.62120	TCG		0.478	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		G	140481311	T	G	140481311	3	3	538	1	0	0	0	0	1	0	0	0	11545	1551	54	5	1080	5	PCDHB3	5	140481311	Missense_Mutation	SNP	T	TCGA-CJ-5672-01A-11D-1534-10	2220238	140481311	40433949	34	28931											
SLC36A2	153201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150701632	150701632	+	Silent	SNP	A	A	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr5:150701632A>G	ENST00000335244.4	-	9	1284	c.1155T>C	c.(1153-1155)atT>atC	p.I385I	SLC36A2_ENST00000450886.1_Silent_p.I109I|SLC36A2_ENST00000521967.1_Silent_p.I385I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	385					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.I385I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TGACGAGGCGAATGGACAGAT	0.542																																																1	Substitution - coding silent(1)	kidney(1)											133	123	126					5																	150701632		2203	4300	6503	SO:0001819	synonymous_variant	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1155T>C	5.37:g.150701632A>G			Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	CCDS4315.1																																																																																				0.542	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			G	150701632	A	G	150701632	2	3	538	1	0	0	0	0	0	0	0	1	14600	242	9	3		3	SLC36A2	5	150701632	Silent	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	10220321	150701632	30213628	35	28932											
ZNF354B	117608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178309752	178309752	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr5:178309752A>T	ENST00000322434.3	+	5	525	c.299A>T	c.(298-300)cAg>cTg	p.Q100L	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q100L(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCAAACTCAGGATTCATTT	0.358																																																1	Substitution - Missense(1)	kidney(1)											61	62	61					5																	178309752		2196	4296	6492	SO:0001583	missense	117608			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.299A>T	5.37:g.178309752A>T	ENSP00000327143:p.Gln100Leu		A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	A	8.750	0.921124	0.17982	.	.	ENSG00000178338	ENST00000322434;ENST00000520377	T;T	0.06371	3.31;6.09	3.53	3.53	0.40419	.	.	.	.	.	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.27498	0.18	B	0.24974	0.057	T	0.40942	-0.9536	9	0.39692	T	0.17	.	8.3805	0.32468	1.0:0.0:0.0:0.0	.	100	Q96LW1	Z354B_HUMAN	L	100	ENSP00000327143:Q100L;ENSP00000429827:Q100L	ENSP00000327143:Q100L	Q	+	2	0	ZNF354B	178242358	0.055000	0.20627	0.924000	0.36721	0.213000	0.24496	2.361000	0.44160	1.474000	0.48178	0.459000	0.35465	CAG		0.358	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		T	178309752	A	T	178309752	3	4	538	1	0	0	0	0	1	0	0	0	17870	188	7	5	313	5	ZNF354B	5	178309752	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	27608120	178309752	2605508	36	28933											
TXNDC5	81567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7883469	7883469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr6:7883469G>A	ENST00000379757.4	-	10	1244	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	TXNDC5_ENST00000539054.1_Nonsense_Mutation_p.R331*|TXNDC5_ENST00000473453.1_Nonsense_Mutation_p.R295*|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	403	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)	p.R403R(1)|p.R403*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TTCCCTCCTCGGAAAAGCAAT	0.453																																					Ovarian(119;1430 1625 3928 26125 34589)											2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(1)|endometrium(1)											133	110	117					6																	7883469		2203	4300	6503	SO:0001587	stop_gained	81567			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1207C>T	6.37:g.7883469G>A	ENSP00000369081:p.Arg403*		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Nonsense_Mutation	SNP	ENST00000379757.4	37	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288356	0.95517	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	.	.	.	5.8	5.8	0.92144	.	0.050224	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	.	.	.	X	331;403;295	.	ENSP00000442453:R331X	R	-	1	2	TXNDC5	7828468	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	6.122000	0.71608	2.735000	0.93741	0.655000	0.94253	CGA		0.453	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		A	7883469	G	A	7883469	4	1	538	1	0	0	0	0	0	1	0	0	16804	1124	39	1	95	1	TXNDC5	6	7883469	Nonsense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10		7883469	163231598	37	28934											
VARS	7407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	31752061	31752061	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr6:31752061G>A	ENST00000375663.3	-	13	2041	c.1601C>T	c.(1600-1602)gCa>gTa	p.A534V	VARS_ENST00000482996.1_5'Flank|VARS_ENST00000444930.2_Missense_Mutation_p.A239V	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	534					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.A534V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCGAGTTGTTGCCACCACCAC	0.597																																																1	Substitution - Missense(1)	kidney(1)											211	188	196					6																	31752061		2203	4300	6503	SO:0001583	missense	7407			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1601C>T	6.37:g.31752061G>A	ENSP00000364815:p.Ala534Val		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418684	0.96092	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T;T	0.40225	1.04;1.04	5.73	5.73	0.89815	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	H	0.99682	4.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.88438	0.3040	10	0.87932	D	0	-15.2796	17.3974	0.87450	0.0:0.0:1.0:0.0	.	534	P26640	SYVC_HUMAN	V	534;239	ENSP00000364815:A534V;ENSP00000398317:A239V	ENSP00000364815:A534V	A	-	2	0	VARS	31860040	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.862000	0.92283	2.706000	0.92434	0.655000	0.94253	GCA		0.597	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		A	31752061	G	A	31752061	3	1	538	1	0	0	0	0	1	0	0	0	17128	1319	46	2	2265	2	VARS	6	31752061	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	23868592	31752061	139363006	38	28935											
HS3ST5	222537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	114383925	114383925	+	Missense_Mutation	SNP	C	C	T	rs144143119	byFrequency	TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr6:114383925C>T	ENST00000312719.5	-	4	1273	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.A29T|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	29					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.A29T(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CCAACTCTGGCGACTAGATAC	0.483																																																1	Substitution - Missense(1)	kidney(1)						C	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	151	149	150		85	6.1	1	6	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HS3ST5	NM_153612.3	58	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	possibly-damaging	29/347	114383925	5,13001	2203	4300	6503	SO:0001583	missense	222537			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.85G>A	6.37:g.114383925C>T	ENSP00000427888:p.Ala29Thr		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555349	0.96514	9.08E-4	1.16E-4	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.50277	0.75;0.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.41502	-0.9505	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	29	Q8IZT8	HS3S5_HUMAN	T	29	ENSP00000427888:A29T;ENSP00000440332:A29T	ENSP00000427888:A29T	A	-	1	0	HS3ST5	114490618	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.022000	0.76431	2.885000	0.99019	0.655000	0.94253	GCC		0.483	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		T	114383925	C	T	114383925	3	4	538	1	0	0	0	0	1	0	0	0	7370	768	27	1	963	1	HS3ST5	6	114383925	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	82631864	114383925	56731142	39	28936											
EYA4	2070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	133844277	133844277	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr6:133844277C>T	ENST00000367895.5	+	18	2164	c.1700C>T	c.(1699-1701)gCt>gTt	p.A567V	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000452339.2_Missense_Mutation_p.A513V|EYA4_ENST00000431403.2_Missense_Mutation_p.A567V|EYA4_ENST00000430974.2_Missense_Mutation_p.A519V|EYA4_ENST00000531901.1_Missense_Mutation_p.A573V|EYA4_ENST00000355167.3_Missense_Mutation_p.A567V|EYA4_ENST00000525849.1_Missense_Mutation_p.A544V|EYA4_ENST00000355286.6_Missense_Mutation_p.A544V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	567					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.A567V(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTAGGAGGTGCTTTCCCCATT	0.388																																					Melanoma(57;398 1237 3528 4702 7415)											2	Substitution - Missense(2)	kidney(2)											126	123	124					6																	133844277		2203	4300	6503	SO:0001583	missense	2070			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1700C>T	6.37:g.133844277C>T	ENSP00000356870:p.Ala567Val		B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	6.563	0.472167	0.12461	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.97404	-4.37;-2.2;-2.33;-4.37;-2.33;-4.37;-4.37;-4.37	5.86	4.06	0.47325	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.199134	0.53938	N	0.000057	T	0.74596	0.3737	N	0.00801	-1.175	0.48830	D	0.999711	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.08055	0.002;0.002;0.001;0.003;0.002;0.002	T	0.73065	-0.4100	10	0.02654	T	1	-13.3038	9.5646	0.39391	0.0:0.7893:0.0:0.2107	.	573;519;513;544;567;567	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	V	513;519;567;567;544;573;544;567	ENSP00000395916:A513V;ENSP00000388670:A519V;ENSP00000356870:A567V;ENSP00000347294:A567V;ENSP00000347434:A544V;ENSP00000432770:A573V;ENSP00000433219:A544V;ENSP00000404558:A567V	ENSP00000347294:A567V	A	+	2	0	EYA4	133885970	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.959000	0.49153	1.612000	0.50221	0.650000	0.86243	GCT		0.388	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		T	133844277	C	T	133844277	3	4	538	1	0	0	0	0	1	0	0	0	5333	797	28	2	1766	2	EYA4	6	133844277	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	19460352	133844277	37270790	40	28937											
MAP3K5	4217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	136923035	136923035	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr6:136923035G>C	ENST00000359015.4	-	20	3122	c.2762C>G	c.(2761-2763)cCa>cGa	p.P921R	MAP3K5_ENST00000355845.4_Missense_Mutation_p.P168R	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	921	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.P921R(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GTCAGGATCTGGTTCAAAACA	0.398																																																1	Substitution - Missense(1)	kidney(1)											123	106	112					6																	136923035		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2762C>G	6.37:g.136923035G>C	ENSP00000351908:p.Pro921Arg		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673567	0.67928	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.24151	1.87;1.87	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049944	0.85682	N	0.000000	T	0.13841	0.0335	N	0.01576	-0.805	0.80722	D	1	P;D	0.89917	0.824;1.0	P;D	0.97110	0.533;1.0	T	0.38542	-0.9656	10	0.10902	T	0.67	.	19.4125	0.94681	0.0:0.0:1.0:0.0	.	1001;921	Q59GL6;Q99683	.;M3K5_HUMAN	R	921;168;1001	ENSP00000351908:P921R;ENSP00000348104:P168R	ENSP00000348104:P168R	P	-	2	0	MAP3K5	136964728	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.420000	0.97426	2.654000	0.90174	0.557000	0.71058	CCA		0.398	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			C	136923035	G	C	136923035	3	2	538	1	0	0	0	0	1	0	0	0	9255	1348	47	4	1406	4	MAP3K5	6	136923035	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	3078758	136923035	34192032	41	28938											
SP4	6671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21469813	21469813	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr7:21469813A>G	ENST00000222584.3	+	3	1248	c.1030A>G	c.(1030-1032)Act>Gct	p.T344A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	344					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.T344A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CTCAGCAGATACTGGCCAGTA	0.502																																																1	Substitution - Missense(1)	kidney(1)											109	80	90					7																	21469813		2203	4300	6503	SO:0001583	missense	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1030A>G	7.37:g.21469813A>G	ENSP00000222584:p.Thr344Ala		O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	A	3.225	-0.158626	0.06544	.	.	ENSG00000105866	ENST00000222584	T	0.09723	2.95	4.94	-0.49	0.12049	.	0.361510	0.31797	N	0.007057	T	0.05823	0.0152	N	0.22421	0.69	0.27328	N	0.956843	B	0.19583	0.037	B	0.12837	0.008	T	0.27971	-1.0058	10	0.37606	T	0.19	.	6.1997	0.20569	0.6776:0.0:0.2032:0.1191	.	344	Q02446	SP4_HUMAN	A	344	ENSP00000222584:T344A	ENSP00000222584:T344A	T	+	1	0	SP4	21436338	0.007000	0.16637	0.728000	0.30774	0.584000	0.36387	0.074000	0.14662	0.069000	0.16605	-0.993000	0.02533	ACT		0.502	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		G	21469813	A	G	21469813	3	3	538	1	0	0	0	0	1	0	0	0	14972	391	14	3	1040	3	SP4	7	21469813	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10		21469813	137668850	42	28939											
OGDH	4967	broad.mit.edu;ucsc.edu	37	7	44664056	44664056	+	Silent	SNP	G	G	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr7:44664056G>T	ENST00000222673.5	+	2	156	c.114G>T	c.(112-114)cgG>cgT	p.R38R	OGDH_ENST00000444676.1_Silent_p.R38R|OGDH_ENST00000449767.1_Silent_p.R38R|OGDH_ENST00000443864.2_Silent_p.R38R|OGDH_ENST00000439616.2_Silent_p.R38R|OGDH_ENST00000543843.1_5'Flank|OGDH_ENST00000447398.1_Silent_p.R38R	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	38					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R38R(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AACAGATTCGGTGCTATTCTG	0.488																																																2	Substitution - coding silent(2)	kidney(2)											215	192	200					7																	44664056		2203	4300	6503	SO:0001819	synonymous_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.114G>T	7.37:g.44664056G>T			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																				0.488	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			T	44664056	G	T	44664056	2	4	538	1	0	0	0	0	0	0	0	1	10841	1248	44	4		4	OGDH	7	44664056	Silent	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	23194243	44664056	114474607	43	28940											
CFTR	1080	broad.mit.edu;hgsc.bcm.edu	37	7	117180383	117180383	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr7:117180383G>A	ENST00000003084.6	+	8	1231	c.1099G>A	c.(1099-1101)Gca>Aca	p.A367T	CFTR_ENST00000454343.1_Missense_Mutation_p.A367T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	367					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.A367T(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CTCTCTTGGAGCAATAAACAA	0.378									Cystic Fibrosis																																							1	Substitution - Missense(1)	kidney(1)											88	86	86					7																	117180383		2203	4300	6503	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1099G>A	7.37:g.117180383G>A	ENSP00000003084:p.Ala367Thr		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952558	0.53293	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.93019	-3.09;-2.9;-3.15	5.26	4.36	0.52297	ABC transporter, transmembrane domain, type 1 (1);	0.268801	0.38381	N	0.001707	D	0.91730	0.7385	M	0.73372	2.23	0.28894	N	0.893656	P	0.42203	0.773	B	0.38327	0.271	D	0.87882	0.2678	10	0.51188	T	0.08	-4.9595	13.2836	0.60230	0.0781:0.0:0.9219:0.0	.	367	P13569	CFTR_HUMAN	T	367;367;337	ENSP00000003084:A367T;ENSP00000403677:A367T;ENSP00000389119:A337T	ENSP00000003084:A367T	A	+	1	0	CFTR	116967619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.651000	0.67951	1.306000	0.44926	0.563000	0.77884	GCA		0.378	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		A	117180383	G	A	117180383	3	1	538	1	0	0	0	0	1	0	0	0	3296	971	34	2	1129	2	CFTR	7	117180383	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	72516327	117180383	41958280	44	28941											
KIAA1429	25962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	95531232	95531232	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr8:95531232A>G	ENST00000297591.5	-	9	2569	c.2494T>C	c.(2494-2496)Tat>Cat	p.Y832H	KIAA1429_ENST00000421249.2_Missense_Mutation_p.Y832H|KIAA1429_ENST00000437199.1_Missense_Mutation_p.Y832H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	832					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Y832H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTTTGGAATAGTACTCCATT	0.328																																																1	Substitution - Missense(1)	kidney(1)											49	56	54					8																	95531232		2199	4299	6498	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2494T>C	8.37:g.95531232A>G	ENSP00000297591:p.Tyr832His		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.519950	0.27211	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.67171	-0.25;-0.25;-0.25	5.02	5.02	0.67125	.	0.142312	0.53938	D	0.000057	T	0.47875	0.1469	N	0.12182	0.205	0.41873	D	0.990283	B;B	0.16396	0.004;0.017	B;B	0.15052	0.007;0.012	T	0.42447	-0.9451	10	0.18276	T	0.48	-15.2528	15.0446	0.71816	1.0:0.0:0.0:0.0	.	832;832	Q69YN4-4;Q69YN4	.;VIR_HUMAN	H	832	ENSP00000297591:Y832H;ENSP00000395600:Y832H;ENSP00000398390:Y832H	ENSP00000297591:Y832H	Y	-	1	0	KIAA1429	95600408	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.606000	0.67641	2.009000	0.58944	0.455000	0.32223	TAT		0.328	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		G	95531232	A	G	95531232	3	3	538	1	0	0	0	0	1	0	0	0	8233	420	15	3	3062	3	KIAA1429	8	95531232	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10		95531232	50832790	45	28942											
KIAA1429	25962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	95538745	95538745	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr8:95538745T>G	ENST00000297591.5	-	8	1802	c.1727A>C	c.(1726-1728)aAg>aCg	p.K576T	KIAA1429_ENST00000421249.2_Missense_Mutation_p.K576T|KIAA1429_ENST00000437199.1_Missense_Mutation_p.K576T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	576					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K576T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGATGAAGTCTTCTCTGCTAA	0.418																																																1	Substitution - Missense(1)	kidney(1)											146	142	143					8																	95538745		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1727A>C	8.37:g.95538745T>G	ENSP00000297591:p.Lys576Thr		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	8.782	0.928595	0.18131	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.47177	0.85;0.85;0.85	5.76	4.41	0.53225	.	0.229492	0.39020	N	0.001495	T	0.24890	0.0604	N	0.08118	0	0.30872	N	0.73236	B;B	0.18741	0.03;0.013	B;B	0.21917	0.037;0.022	T	0.15407	-1.0438	10	0.21540	T	0.41	-15.4918	8.4338	0.32775	0.0:0.2:0.0:0.8	.	576;576	Q69YN4-4;Q69YN4	.;VIR_HUMAN	T	576	ENSP00000297591:K576T;ENSP00000395600:K576T;ENSP00000398390:K576T	ENSP00000297591:K576T	K	-	2	0	KIAA1429	95607921	0.982000	0.34865	1.000000	0.80357	0.964000	0.63967	0.434000	0.21494	2.192000	0.70111	0.460000	0.39030	AAG		0.418	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		G	95538745	T	G	95538745	3	3	538	1	0	0	0	0	1	0	0	0	8233	1609	56	5	3833	5	KIAA1429	8	95538745	Missense_Mutation	SNP	T	TCGA-CJ-5672-01A-11D-1534-10	7513	95538745	50825277	46	28943											
DMRTA1	63951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	22451073	22451073	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr9:22451073G>T	ENST00000325870.2	+	2	903	c.678G>T	c.(676-678)gaG>gaT	p.E226D		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	226					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E226D(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		AACAAAAAGAGAGTAAATGTG	0.393																																																1	Substitution - Missense(1)	kidney(1)											66	66	66					9																	22451073		2203	4300	6503	SO:0001583	missense	63951			AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.678G>T	9.37:g.22451073G>T	ENSP00000319651:p.Glu226Asp		A1L481|Q8N8Y9|Q9H4B9	Missense_Mutation	SNP	ENST00000325870.2	37	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	G	7.954	0.745539	0.15710	.	.	ENSG00000176399	ENST00000325870	T	0.31247	1.5	5.74	0.127	0.14727	.	1.603800	0.03045	N	0.153799	T	0.25306	0.0615	L	0.60455	1.87	0.09310	N	1	P	0.34462	0.454	B	0.27262	0.078	T	0.12066	-1.0562	10	0.16420	T	0.52	-0.9624	4.4845	0.11783	0.3535:0.0:0.5025:0.144	.	226	Q5VZB9	DMRTA_HUMAN	D	226	ENSP00000319651:E226D	ENSP00000319651:E226D	E	+	3	2	DMRTA1	22441073	0.000000	0.05858	0.545000	0.28153	0.989000	0.77384	0.010000	0.13242	0.096000	0.17463	0.563000	0.77884	GAG		0.393	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			T	22451073	G	T	22451073	3	4	538	1	0	0	0	0	1	0	0	0	4590	933	33	4	684	4	DMRTA1	9	22451073	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10		22451073	118762358	47	28944											
SEMA4D	10507	broad.mit.edu	37	9	91994191	91994191	+	Silent	SNP	A	A	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr9:91994191A>G	ENST00000450295.1	-	16	2793	c.2017T>C	c.(2017-2019)Ttg>Ctg	p.L673L	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Silent_p.L673L|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.L673L|SEMA4D_ENST00000438547.2_Silent_p.L673L|SEMA4D_ENST00000455551.2_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	673					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.L673L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GATGCCACCAACACTTTGGTG	0.622																																																1	Substitution - coding silent(1)	kidney(1)											85	91	89					9																	91994191		2203	4300	6503	SO:0001819	synonymous_variant	10507			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2017T>C	9.37:g.91994191A>G			B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	CCDS6685.1																																																																																				0.622	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		G	91994191	A	G	91994191	2	3	538	1	0	0	0	0	0	0	0	1	14040	40	2	3		3	SEMA4D	9	91994191	Silent	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	69543118	91994191	49219240	48	28945											
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113312161	113312161	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr9:113312161A>G	ENST00000401783.2	-	2	1091	c.755T>C	c.(754-756)tTt>tCt	p.F252S	SVEP1_ENST00000374469.1_Missense_Mutation_p.F229S|SVEP1_ENST00000374461.1_Missense_Mutation_p.F229S|SVEP1_ENST00000302728.8_Missense_Mutation_p.F252S|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	252	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.F252S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAAAGCCTCAAATTCTTCAAA	0.458																																																1	Substitution - Missense(1)	kidney(1)											71	67	68					9																	113312161		1922	4127	6049	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.755T>C	9.37:g.113312161A>G	ENSP00000384917:p.Phe252Ser		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712590	0.89112	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.38	5.38	0.77491	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	M	0.88906	2.99	0.45777	D	0.998662	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	D	0.91759	0.5418	10	0.87932	D	0	.	15.6841	0.77396	1.0:0.0:0.0:0.0	.	252;252;252	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	S	252;229;252;229	ENSP00000384917:F252S;ENSP00000363593:F229S;ENSP00000304118:F252S;ENSP00000363585:F229S	ENSP00000304118:F252S	F	-	2	0	SVEP1	112351982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.835000	0.92100	2.162000	0.67917	0.460000	0.39030	TTT		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				G	113312161	A	G	113312161	3	3	538	1	0	0	0	0	1	0	0	0	15425	14	1	3	10148	3	SVEP1	9	113312161	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	21317970	113312161	27901270	49	28946											
GSN	2934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	124072995	124072995	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr9:124072995G>A	ENST00000373818.4	+	4	607	c.538G>A	c.(538-540)Gta>Ata	p.V180I	GSN_ENST00000412819.1_Missense_Mutation_p.V129I|GSN_ENST00000373808.2_Missense_Mutation_p.V129I|GSN_ENST00000373807.1_5'Flank|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000394353.2_Missense_Mutation_p.V140I|GSN_ENST00000373823.3_Missense_Mutation_p.V129I|GSN_ENST00000436847.1_Missense_Mutation_p.V140I|GSN_ENST00000449733.1_Missense_Mutation_p.V129I|GSN_ENST00000341272.2_Missense_Mutation_p.V129I|GSN_ENST00000545652.1_Missense_Mutation_p.V137I	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	180					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)	p.V180I(1)|p.V129I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAAGCACGTGGTACCCAACGA	0.582																																																2	Substitution - Missense(2)	kidney(2)											186	134	151					9																	124072995		2203	4300	6503	SO:0001583	missense	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.538G>A	9.37:g.124072995G>A	ENSP00000362924:p.Val180Ile		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147635	0.57151	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	T;T;T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.33	5.33	0.75918	.	0.104741	0.64402	D	0.000004	T	0.52273	0.1724	L	0.46741	1.465	0.80722	D	1	B;P;B;B	0.42973	0.0;0.796;0.001;0.009	B;B;B;B	0.30401	0.001;0.115;0.001;0.006	T	0.58120	-0.7692	10	0.41790	T	0.15	-3.8469	17.5915	0.87998	0.0:0.0:1.0:0.0	.	153;137;140;180	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	I	129;129;140;140;140;129;129;129;129;113;103;137;180	ENSP00000362929:V129I;ENSP00000404226:V129I;ENSP00000410657:V140I;ENSP00000411293:V140I;ENSP00000377882:V140I;ENSP00000409358:V129I;ENSP00000416586:V129I;ENSP00000340888:V129I;ENSP00000362914:V129I;ENSP00000445823:V137I;ENSP00000362924:V180I	ENSP00000340888:V129I	V	+	1	0	GSN	123112816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.740000	0.74832	2.492000	0.84095	0.655000	0.94253	GTA		0.582	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		A	124072995	G	A	124072995	3	1	538	1	0	0	0	0	1	0	0	0	6827	1261	44	2	580	2	GSN	9	124072995	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	10760834	124072995	17140436	50	28947											
ITIH5	80760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	7682816	7682816	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr10:7682816A>C	ENST00000256861.6	-	4	380	c.302T>G	c.(301-303)cTt>cGt	p.L101R	ITIH5_ENST00000397146.2_Missense_Mutation_p.L101R|ITIH5_ENST00000397145.2_Missense_Mutation_p.L101R|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	101	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L101R(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTCTCCAATAAGCCTGAAATA	0.388																																																2	Substitution - Missense(2)	kidney(2)											176	170	172					10																	7682816		2202	4300	6502	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.302T>G	10.37:g.7682816A>C	ENSP00000256861:p.Leu101Arg		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	A	17.72	3.459598	0.63401	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.23950	1.88;1.88;1.88	5.71	5.71	0.89125	Vault protein inter-alpha-trypsin (2);	0.497691	0.19151	N	0.121459	T	0.42291	0.1196	.	.	.	0.30567	N	0.763936	P;D	0.60575	0.785;0.988	B;P	0.58454	0.257;0.839	T	0.49925	-0.8887	9	0.59425	D	0.04	-9.051	11.1468	0.48434	0.8463:0.1537:0.0:0.0	.	101;101	G5E9D8;Q86UX2	.;ITIH5_HUMAN	R	101	ENSP00000256861:L101R;ENSP00000380333:L101R;ENSP00000380332:L101R	ENSP00000256861:L101R	L	-	2	0	ITIH5	7722822	1.000000	0.71417	0.956000	0.39512	0.969000	0.65631	4.157000	0.58144	2.162000	0.67917	0.460000	0.39030	CTT		0.388	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		C	7682816	A	C	7682816	3	2	538	1	0	0	0	0	1	0	0	0	7909	72	3	5	2707	5	ITIH5	10	7682816	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10		7682816	127851931	51	28948											
KCNA4	3739	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	30034211	30034211	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr11:30034211C>A	ENST00000328224.6	-	2	1248	c.15G>T	c.(13-15)atG>atT	p.M5I	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	5					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.M5I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCGCACTCACCATTGCAACCT	0.537																																																1	Substitution - Missense(1)	kidney(1)											64	63	63					11																	30034211		1940	4137	6077	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.15G>T	11.37:g.30034211C>A	ENSP00000328511:p.Met5Ile			Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623159	0.46840	.	.	ENSG00000182255	ENST00000328224	D	0.97352	-4.35	5.35	5.35	0.76521	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	107.514000	0.00710	U	0.000828	D	0.97732	0.9256	N	0.24115	0.695	0.80722	D	1	P	0.49559	0.925	D	0.65140	0.932	D	0.88648	0.3180	10	0.72032	D	0.01	.	19.0919	0.93229	0.0:1.0:0.0:0.0	.	5	P22459	KCNA4_HUMAN	I	5	ENSP00000328511:M5I	ENSP00000328511:M5I	M	-	3	0	KCNA4	29990787	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	7.378000	0.79679	2.503000	0.84419	0.655000	0.94253	ATG		0.537	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		A	30034211	C	A	30034211	3	1	538	1	0	0	0	0	1	0	0	0	8007	594	21	4	1950	4	KCNA4	11	30034211	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10		30034211	104972305	52	28949											
OR4C3	256144	broad.mit.edu;hgsc.bcm.edu	37	11	48346714	48346714	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr11:48346714C>G	ENST00000319856.4	+	1	243	c.222C>G	c.(220-222)atC>atG	p.I74M		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I74M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGGTCACTATCACCTCCAGCC	0.463																																																1	Substitution - Missense(1)	kidney(1)											156	130	139					11																	48346714		2201	4298	6499	SO:0001583	missense	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.222C>G	11.37:g.48346714C>G	ENSP00000321419:p.Ile74Met		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110730	0.56398	.	.	ENSG00000176547	ENST00000319856	T	0.08458	3.09	5.88	-6.81	0.01704	GPCR, rhodopsin-like superfamily (1);	0.845488	0.10052	N	0.722117	T	0.17066	0.0410	H	0.95294	3.65	0.09310	N	1	P	0.39903	0.694	B	0.38985	0.287	T	0.10177	-1.0641	10	0.72032	D	0.01	.	9.7845	0.40668	0.0975:0.3029:0.0:0.5996	.	47	Q8NH37	OR4C3_HUMAN	M	74	ENSP00000321419:I74M	ENSP00000321419:I74M	I	+	3	3	OR4C3	48303290	0.000000	0.05858	0.000000	0.03702	0.886000	0.51366	-1.911000	0.01583	-0.903000	0.03881	0.549000	0.68633	ATC		0.463	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		G	48346714	C	G	48346714	3	3	538	1	0	0	0	0	1	0	0	0	11052	816	29	4	224	4	OR4C3	11	48346714	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	18312503	48346714	86659802	53	28950											
OR8J3	81168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55904652	55904652	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr11:55904652A>C	ENST00000301529.1	-	1	542	c.543T>G	c.(541-543)atT>atG	p.I181M		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I181M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACAGAGGTGCAATATCACAGT	0.333																																																1	Substitution - Missense(1)	kidney(1)											103	102	103					11																	55904652		2201	4296	6497	SO:0001583	missense	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.543T>G	11.37:g.55904652A>C	ENSP00000301529:p.Ile181Met		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594015	0.28445	.	.	ENSG00000167822	ENST00000301529	T	0.38887	1.11	3.26	-0.823	0.10815	GPCR, rhodopsin-like superfamily (1);	0.717508	0.13352	N	0.394321	T	0.33933	0.0880	N	0.26042	0.785	0.09310	N	1	B	0.29909	0.261	P	0.46419	0.516	T	0.45101	-0.9284	10	0.39692	T	0.17	.	1.2263	0.01934	0.2353:0.1887:0.3911:0.1848	.	181	Q8NGG0	OR8J3_HUMAN	M	181	ENSP00000301529:I181M	ENSP00000301529:I181M	I	-	3	3	OR8J3	55661228	0.000000	0.05858	0.005000	0.12908	0.783000	0.44284	-0.271000	0.08572	0.292000	0.22492	0.240000	0.17902	ATT		0.333	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		C	55904652	A	C	55904652	3	2	538	1	0	0	0	0	1	0	0	0	11244	126	5	5	406	5	OR8J3	11	55904652	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	7557938	55904652	79101864	54	28951											
BSCL2	26580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62472858	62472858	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr11:62472858A>T	ENST00000403550.1	-	2	550	c.127T>A	c.(127-129)Tgg>Agg	p.W43R	HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000407022.3_Missense_Mutation_p.W43R|BSCL2_ENST00000433053.1_Missense_Mutation_p.W107R|BSCL2_ENST00000421906.1_Missense_Mutation_p.W43R|BSCL2_ENST00000405837.1_Missense_Mutation_p.W107R|BSCL2_ENST00000537604.1_Intron|GNG3_ENST00000294117.5_5'Flank|BSCL2_ENST00000360796.5_Missense_Mutation_p.W107R|BSCL2_ENST00000278893.7_Missense_Mutation_p.W43R			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	43					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.W43R(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						ACAGACACCCAGAGCAAAAGG	0.577																																																1	Substitution - Missense(1)	kidney(1)											60	54	56					11																	62472858		2202	4299	6501	SO:0001583	missense	26580				CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"spastic paraplegia 17 (Silver syndrome)"	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.127T>A	11.37:g.62472858A>T	ENSP00000385561:p.Trp43Arg		G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338938	0.81911	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000524862;ENST00000533982;ENST00000532818	D;D;D;D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.57	5.57	0.84162	.	0.000000	0.64402	U	0.000002	D	0.94318	0.8174	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;0.998;0.994;1.0	D	0.94297	0.7534	10	0.48119	T	0.1	-10.7462	13.6882	0.62529	1.0:0.0:0.0:0.0	.	43;43;107;43	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	R	107;107;43;107;43;43;43;43;107;43;107	ENSP00000385332:W107R;ENSP00000414002:W107R;ENSP00000278893:W43R;ENSP00000354032:W107R;ENSP00000385561:W43R;ENSP00000384080:W43R;ENSP00000413209:W43R;ENSP00000413340:W43R;ENSP00000433888:W107R;ENSP00000434149:W43R	ENSP00000278893:W43R	W	-	1	0	BSCL2	62229434	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.900000	0.87376	2.135000	0.66039	0.379000	0.24179	TGG		0.577	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		T	62472858	A	T	62472858	3	4	538	1	0	0	0	0	1	0	0	0	1529	188	7	5	1109	5	BSCL2	11	62472858	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	6568206	62472858	72533658	55	28952											
SPTBN2	6712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66483388	66483388	+	Silent	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr11:66483388G>A	ENST00000533211.1	-	4	553	c.222C>T	c.(220-222)gtC>gtT	p.V74V	SPTBN2_ENST00000309996.2_Silent_p.V74V|SPTBN2_ENST00000529997.1_Silent_p.V74V|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	74	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.V74V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCGGCACGTGACCCGGGCCA	0.592																																																1	Substitution - coding silent(1)	kidney(1)											97	73	81					11																	66483388		2200	4295	6495	SO:0001819	synonymous_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.222C>T	11.37:g.66483388G>A			O14872|O14873	Silent	SNP	ENST00000533211.1	37	CCDS8150.1																																																																																				0.592	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		A	66483388	G	A	66483388	2	1	538	1	0	0	0	0	0	0	0	1	15125	1277	45	2		2	SPTBN2	11	66483388	Silent	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	4010530	66483388	68523128	56	28953											
RNF121	55298	broad.mit.edu;ucsc.edu	37	11	71707272	71707272	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr11:71707272C>A	ENST00000361756.3	+	9	1256	c.895C>A	c.(895-897)Ctg>Atg	p.L299M	IL18BP_ENST00000497194.2_5'Flank|RNF121_ENST00000545854.1_Missense_Mutation_p.L218M|RNF121_ENST00000533380.1_Missense_Mutation_p.L139M|RNF121_ENST00000530137.1_Missense_Mutation_p.L267M|IL18BP_ENST00000393703.4_5'Flank|IL18BP_ENST00000531053.1_5'Flank|RNF121_ENST00000393713.3_3'UTR|IL18BP_ENST00000404792.1_5'Flank|IL18BP_ENST00000337131.5_5'Flank|IL18BP_ENST00000393705.4_5'Flank	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	299						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L299M(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GTATGGGCAACTGCTGGACTG	0.527																																																1	Substitution - Missense(1)	kidney(1)											151	117	129					11																	71707272		2200	4293	6493	SO:0001583	missense	55298			AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"RING-type (C3HC4) zinc fingers"	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.895C>A	11.37:g.71707272C>A	ENSP00000354571:p.Leu299Met		B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	ENST00000361756.3	37	CCDS8203.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375127	0.95923	.	.	ENSG00000137522	ENST00000361756;ENST00000533380;ENST00000545854;ENST00000530137	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	M	0.76838	2.35	0.80722	D	1	P;D	0.64830	0.798;0.994	P;P	0.58780	0.539;0.845	T	0.43015	-0.9417	10	0.48119	T	0.1	-4.4704	19.3663	0.94464	0.0:1.0:0.0:0.0	.	267;299	G3V148;Q9H920	.;RN121_HUMAN	M	299;139;218;267	ENSP00000354571:L299M;ENSP00000433574:L139M;ENSP00000443799:L218M;ENSP00000431286:L267M	ENSP00000354571:L299M	L	+	1	2	RNF121	71384920	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.196000	0.77805	2.873000	0.98535	0.563000	0.77884	CTG		0.527	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		A	71707272	C	A	71707272	3	1	538	1	0	0	0	0	1	0	0	0	13437	564	20	4	929	4	RNF121	11	71707272	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	5223884	71707272	63299244	57	28954											
VPS11	55823	broad.mit.edu;ucsc.edu	37	11	118938631	118938631	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr11:118938631C>G	ENST00000300793.6	+	1	139	c.97C>G	c.(97-99)Cct>Gct	p.P33A	VPS11_ENST00000527798.1_3'UTR|RP11-110I1.14_ENST00000607857.1_lincRNA|RP11-110I1.13_ENST00000607709.1_RNA	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	33					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.P33A(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CGGGGCCACACCTGCTTCTGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											29	32	31					11																	118938631		1967	4152	6119	SO:0001583	missense	55823			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.97C>G	11.37:g.118938631C>G	ENSP00000475301:p.Pro33Ala		Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37																																																																																					0.607	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		G	118938631	C	G	118938631	3	3	538	1	0	0	0	0	1	0	0	0	17193	507	18	4	99	4	VPS11	11	118938631	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	47231359	118938631	16067885	58	28955											
OR10S1	219873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123847986	123847986	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr11:123847986A>T	ENST00000531945.1	-	1	502	c.413T>A	c.(412-414)cTg>cAg	p.L138Q		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L138Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACAGATAGCCAGATAGCGGTC	0.542																																																1	Substitution - Missense(1)	kidney(1)											100	84	89					11																	123847986		2202	4299	6501	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.413T>A	11.37:g.123847986A>T	ENSP00000431914:p.Leu138Gln		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064408	0.76187	.	.	ENSG00000196248	ENST00000531945	T	0.00397	7.57	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32753	U	0.005681	T	0.01029	0.0034	M	0.83312	2.635	0.37434	D	0.91414	D	0.89917	1.0	D	0.71184	0.972	T	0.64571	-0.6376	10	0.87932	D	0	-3.8351	14.1974	0.65679	1.0:0.0:0.0:0.0	.	138	Q8NGN2	O10S1_HUMAN	Q	138	ENSP00000431914:L138Q	ENSP00000431914:L138Q	L	-	2	0	OR10S1	123353196	0.319000	0.24607	1.000000	0.80357	0.905000	0.53344	4.806000	0.62569	2.019000	0.59389	0.467000	0.42956	CTG		0.542	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		T	123847986	A	T	123847986	3	4	538	1	0	0	0	0	1	0	0	0	10920	188	7	5	586	5	OR10S1	11	123847986	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	4909355	123847986	11158530	59	28956											
KLRC2	3822	broad.mit.edu;hgsc.bcm.edu	37	12	10584769	10584770	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr12:10584769_10584770insAA	ENST00000381902.2	-	5	525_526	c.519_520insTT	c.(517-522)attggtfs	p.G174fs	KLRC2_ENST00000381901.1_Frame_Shift_Ins_p.G174fs|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Frame_Shift_Ins_p.G115fs	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	174	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.G174R(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CGAAACACACCAATCCATGAGG	0.287																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001589	frameshift_variant	3822			X54869	CCDS31745.1	12p13	2009-12-03				ENSG00000205809		"Killer cell lectin-like receptors", "CD molecules"	6375	protein-coding gene	gene with protein product		602891				9598306	Standard	NM_002260		Approved	NKG2-C, CD159c		P26717		ENST00000381902.2:c.518_519dupTT	12.37:g.10584770_10584771dupAA	ENSP00000371327:p.Gly174fs		O43802|Q52M74|Q9NR42	Frame_Shift_Ins	INS	ENST00000381902.2	37	CCDS31745.1																																																																																				0.287	KLRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400111.1	NM_002260		AA	10584770	-	AA	10584769	7	5	538	1	0	1	1	0	0	0	0	0	8418	594	21	0	183	0	KLRC2	12	10584769	Frame_Shift_Ins	INS	-	TCGA-CJ-5672-01A-11D-1534-10		10584769	123267126	60	28957											
TM7SF3	51768	broad.mit.edu;ucsc.edu	37	12	27156169	27156169	+	Splice_Site	SNP	C	C	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr12:27156169C>T	ENST00000343028.4	-	2	471	c.246G>A	c.(244-246)ccG>ccA	p.P82P	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	82						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P82P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TTGCACTTACCGGAGAAAAGG	0.308																																																1	Substitution - coding silent(1)	kidney(1)											43	43	43					12																	27156169		2202	4300	6502	SO:0001630	splice_region_variant	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.246+1G>A	12.37:g.27156169C>T			B3KMZ3|Q9NUS4	Silent	SNP	ENST00000343028.4	37	CCDS8710.1																																																																																				0.308	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551	Silent	T	27156169	C	T	27156169	5	4	538	1	0	0	0	0	0	0	1	0	15980	666	23	1	1510	1	TM7SF3	12	27156169	Splice_Site	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	16571400	27156169	106695726	61	28958											
C12orf10	60314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53700059	53700059	+	Silent	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr12:53700059G>A	ENST00000267103.5	+	5	772	c.720G>A	c.(718-720)ctG>ctA	p.L240L	C12orf10_ENST00000548632.1_Silent_p.L165L|C12orf10_ENST00000549488.1_Silent_p.L77L|AAAS_ENST00000549983.1_5'Flank	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	240					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L240L(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						ACAGCTGGCTGCCAGCCCGGG	0.517																																																1	Substitution - coding silent(1)	kidney(1)											95	101	99					12																	53700059		2203	4300	6503	SO:0001819	synonymous_variant	60314			AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.720G>A	12.37:g.53700059G>A				Silent	SNP	ENST00000267103.5	37	CCDS31810.1																																																																																				0.517	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		A	53700059	G	A	53700059	2	1	538	1	0	0	0	0	0	0	0	1	1676	1306	46	2		2	C12orf10	12	53700059	Silent	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	26543890	53700059	80151836	62	28959											
SCYL2	55681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100732421	100732421	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr12:100732421T>C	ENST00000360820.2	+	18	2698	c.2261T>C	c.(2260-2262)aTt>aCt	p.I754T		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	754	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.I758T(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCATGGGCATTGGTATGATG	0.403																																																1	Substitution - Missense(1)	kidney(1)											109	100	103					12																	100732421		2203	4300	6503	SO:0001583	missense	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2261T>C	12.37:g.100732421T>C	ENSP00000354061:p.Ile754Thr		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	T	5.098	0.203668	0.09704	.	.	ENSG00000136021	ENST00000360820	T	0.28069	1.63	5.53	4.37	0.52481	.	0.935625	0.09027	N	0.859380	T	0.17323	0.0416	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32052	-0.9921	10	0.10636	T	0.68	.	8.1377	0.31064	0.1341:0.0:0.1404:0.7255	.	754	Q6P3W7	SCYL2_HUMAN	T	754	ENSP00000354061:I754T	ENSP00000354061:I754T	I	+	2	0	SCYL2	99256552	0.995000	0.38212	0.631000	0.29282	0.895000	0.52256	3.175000	0.50855	1.008000	0.39264	0.477000	0.44152	ATT		0.403	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		C	100732421	T	C	100732421	3	2	538	1	0	0	0	0	1	0	0	0	13954	1493	52	3	2327	3	SCYL2	12	100732421	Missense_Mutation	SNP	T	TCGA-CJ-5672-01A-11D-1534-10	47032362	100732421	33119474	63	28960											
MED13L	23389	broad.mit.edu;ucsc.edu	37	12	116429263	116429263	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr12:116429263C>A	ENST00000281928.3	-	17	3702	c.3496G>T	c.(3496-3498)Gcg>Tcg	p.A1166S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1166						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.A1166S(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTCATAATCGCACTAAACCCA	0.473																																																1	Substitution - Missense(1)	kidney(1)											79	73	75					12																	116429263		2203	4300	6503	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3496G>T	12.37:g.116429263C>A	ENSP00000281928:p.Ala1166Ser		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098697	0.76870	.	.	ENSG00000123066	ENST00000281928	D	0.85339	-1.97	5.35	5.35	0.76521	.	0.048809	0.85682	D	0.000000	D	0.90923	0.7147	L	0.56340	1.77	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.90950	0.4804	10	0.62326	D	0.03	.	19.2467	0.93905	0.0:1.0:0.0:0.0	.	1166	Q71F56	MD13L_HUMAN	S	1166	ENSP00000281928:A1166S	ENSP00000281928:A1166S	A	-	1	0	MED13L	114913646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.784000	0.95788	0.585000	0.79938	GCG		0.473	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			A	116429263	C	A	116429263	3	1	538	1	0	0	0	0	1	0	0	0	9433	710	25	4	3196	4	MED13L	12	116429263	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	15696842	116429263	17422632	64	28961											
FLT1	2321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	28913320	28913320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr13:28913320C>A	ENST00000282397.4	-	17	2724	c.2473G>T	c.(2473-2475)Gag>Tag	p.E825*	FLT1_ENST00000540678.1_Nonsense_Mutation_p.E43*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	825					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|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 phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.E825*(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTAAGTCTCTCCCGGGCAAAC	0.423																																																1	Substitution - Nonsense(1)	kidney(1)											77	75	76					13																	28913320		2203	4300	6503	SO:0001587	stop_gained	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2473G>T	13.37:g.28913320C>A	ENSP00000282397:p.Glu825*		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Nonsense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	40	8.262814	0.98732	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	.	.	.	5.52	5.52	0.82312	.	0.103802	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.7926	0.96466	0.0:1.0:0.0:0.0	.	.	.	.	X	825;43	.	ENSP00000282397:E825X	E	-	1	0	FLT1	27811320	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.761000	0.94854	0.655000	0.94253	GAG		0.423	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			A	28913320	C	A	28913320	4	1	538	1	0	0	0	0	0	1	0	0	5943	864	30	4	1599	4	FLT1	13	28913320	Nonsense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10		28913320	86256558	65	28962											
YLPM1	56252	hgsc.bcm.edu;ucsc.edu	37	14	75287773	75287773	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr14:75287773delA	ENST00000552421.1	+	16	4050	c.3926delA	c.(3925-3927)gatfs	p.D1309fs	YLPM1_ENST00000325680.7_Frame_Shift_Del_p.D2015fs|YLPM1_ENST00000546901.1_3'UTR|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.D1780fs			P49750	YLPM1_HUMAN	YLP motif containing 1	1820					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAGATGGAAGATTTTGATGCA	0.358																																																0													44	49	47					14																	75287773		1806	4033	5839	SO:0001589	frameshift_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3926delA	14.37:g.75287773delA	ENSP00000447921:p.Asp1309fs		P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000552421.1	37																																																																																					0.358	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		-	75287773	A	-	75287773	7	5	538	1	0	1	0	1	0	0	0	0	17491	333	12	0	6110	0	YLPM1	14	75287773	Frame_Shift_Del	DEL	A	TCGA-CJ-5672-01A-11D-1534-10		75287773	32061767	66	28963											
DENND4A	10260	broad.mit.edu;ucsc.edu	37	15	66023980	66023980	+	Splice_Site	SNP	C	C	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr15:66023980C>T	ENST00000431932.2	-	9	1374	c.1166G>A	c.(1165-1167)aGt>aAt	p.S389N	DENND4A_ENST00000443035.3_Splice_Site_p.S389N	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	389	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S389N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTTTACTTGCCTTAGTGGAAG	0.294																																																2	Substitution - Missense(2)	kidney(2)											45	43	43					15																	66023980		1795	4050	5845	SO:0001630	splice_region_variant	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1166+1G>A	15.37:g.66023980C>T			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113509	0.77210	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.11821	2.74;2.74	5.94	5.94	0.96194	DENN (3);	0.000000	0.85682	U	0.000000	T	0.42988	0.1227	M	0.80982	2.52	0.80722	D	1	P;D;D	0.69078	0.93;0.965;0.997	D;P;D	0.81914	0.919;0.87;0.995	T	0.12967	-1.0527	9	.	.	.	.	19.9544	0.97215	0.0:1.0:0.0:0.0	.	389;389;389	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	N	389	ENSP00000391167:S389N;ENSP00000396830:S389N	.	S	-	2	0	DENND4A	63811034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.403000	0.79983	2.807000	0.96579	0.591000	0.81541	AGT		0.294	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	Missense_Mutation	T	66023980	C	T	66023980	5	4	538	1	0	0	0	0	0	0	1	0	4435	695	24	2	4654	2	DENND4A	15	66023980	Splice_Site	SNP	C	TCGA-CJ-5672-01A-11D-1534-10		66023980	36507412	67	28964											
IL16	3603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	81552201	81552201	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr15:81552201G>T	ENST00000302987.4	+	2	401	c.401G>T	c.(400-402)aGg>aTg	p.R134M	IL16_ENST00000394660.2_Missense_Mutation_p.R134M			Q14005	IL16_HUMAN	interleukin 16	134					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R134M(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGCCACCAAAGGGCACGCAGC	0.483																																																2	Substitution - Missense(2)	kidney(2)											70	70	70					15																	81552201		1946	4142	6088	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.401G>T	15.37:g.81552201G>T	ENSP00000302935:p.Arg134Met		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798444	0.70567	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000302987	T;T	0.16457	2.34;2.35	4.52	4.52	0.55395	.	0.000000	0.43747	D	0.000530	T	0.39886	0.1095	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.936;0.971	T	0.28839	-1.0031	10	0.72032	D	0.01	.	14.2776	0.66191	0.0:0.0:1.0:0.0	.	134;134	Q14005;Q14005-2	IL16_HUMAN;.	M	134	ENSP00000378155:R134M;ENSP00000302935:R134M	ENSP00000302935:R134M	R	+	2	0	IL16	79339256	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	4.808000	0.62583	2.339000	0.79563	0.563000	0.77884	AGG		0.483	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		T	81552201	G	T	81552201	3	4	538	1	0	0	0	0	1	0	0	0	7635	1000	35	4	407	4	IL16	15	81552201	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	15528221	81552201	20979191	68	28965											
C16orf62	57020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	19613023	19613023	+	Silent	SNP	G	G	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr16:19613023G>T	ENST00000251143.5	+	9	774	c.762G>T	c.(760-762)gtG>gtT	p.V254V	C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000438132.3_Silent_p.V343V|C16orf62_ENST00000417362.2_Silent_p.V254V|C16orf62_ENST00000448695.1_Silent_p.V104V|C16orf62_ENST00000543152.1_Silent_p.V3V|C16orf62_ENST00000542263.1_Silent_p.V343V			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	254						integral component of membrane (GO:0016021)		p.V343V(1)|p.V254V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCATGTGTGTGGATAGCCGCA	0.478											OREG0023661	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - coding silent(2)	kidney(2)											139	109	120					16																	19613023		2197	4300	6497	SO:0001819	synonymous_variant	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.762G>T	16.37:g.19613023G>T		734	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37																																																																																					0.478	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		T	19613023	G	T	19613023	2	4	538	1	0	0	0	0	0	0	0	1	1827	1335	47	4		4	C16orf62	16	19613023	Silent	SNP	G	TCGA-CJ-5672-01A-11D-1534-10		19613023	70741730	69	28966											
GPT2	84706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	46958369	46958369	+	Silent	SNP	C	C	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr16:46958369C>T	ENST00000340124.4	+	10	1393	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V	GPT2_ENST00000440783.2_Silent_p.V327V	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	427					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.V427V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	TTAACCAAGTCCCAGGAATTC	0.547																																																1	Substitution - coding silent(1)	kidney(1)											115	102	107					16																	46958369		2203	4300	6503	SO:0001819	synonymous_variant	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1281C>T	16.37:g.46958369C>T			Q8N9E2	Silent	SNP	ENST00000340124.4	37	CCDS10725.1																																																																																				0.547	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			T	46958369	C	T	46958369	2	4	538	1	0	0	0	0	0	0	0	1	6740	842	30	2		2	GPT2	16	46958369	Silent	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	27345346	46958369	43396384	70	28967											
ADAMTS18	170692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	77353974	77353974	+	Silent	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr16:77353974G>A	ENST00000282849.5	-	16	2722	c.2304C>T	c.(2302-2304)gtC>gtT	p.V768V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	768	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V768V(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGGAATGAGGACCACCGGAT	0.488																																																1	Substitution - coding silent(1)	kidney(1)											47	53	51					16																	77353974		2198	4300	6498	SO:0001819	synonymous_variant	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2304C>T	16.37:g.77353974G>A			Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	CCDS10926.1																																																																																				0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			A	77353974	G	A	77353974	2	1	538	1	0	0	0	0	0	0	0	1	263	1161	41	2		2	ADAMTS18	16	77353974	Silent	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	30395605	77353974	13000779	71	28968											
TMEM102	284114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7340067	7340067	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr17:7340067G>A	ENST00000323206.1	+	3	1042	c.769G>A	c.(769-771)Gcg>Acg	p.A257T	RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.A257T|FGF11_ENST00000293829.4_5'Flank|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	257					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)		p.A257T(1)		kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GGCTCGGGAAGCGTGGCCCAC	0.622																																																1	Substitution - Missense(1)	kidney(1)											77	80	79					17																	7340067		2203	4300	6503	SO:0001583	missense	284114			AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.769G>A	17.37:g.7340067G>A	ENSP00000315387:p.Ala257Thr		D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	6.615	0.481807	0.12581	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.44881	0.91;0.91	5.23	3.11	0.35812	.	0.544520	0.17105	N	0.186827	T	0.23054	0.0557	L	0.29908	0.895	0.09310	N	1	B	0.31318	0.319	B	0.27608	0.081	T	0.08066	-1.0740	10	0.13470	T	0.59	-11.399	5.3897	0.16237	0.1005:0.0:0.6978:0.2017	.	257	Q8N9M5	TM102_HUMAN	T	257	ENSP00000315387:A257T;ENSP00000379815:A257T	ENSP00000315387:A257T	A	+	1	0	TMEM102	7280791	0.000000	0.05858	0.754000	0.31244	0.346000	0.29079	0.079000	0.14782	2.596000	0.87737	0.561000	0.74099	GCG		0.622	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		A	7340067	G	A	7340067	3	1	538	1	0	0	0	0	1	0	0	0	16022	971	34	2	775	2	TMEM102	17	7340067	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10		7340067	73855143	72	28969											
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu	37	17	7722587	7722587	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr17:7722587T>A	ENST00000572933.1	+	72	12336	c.10876T>A	c.(10876-10878)Tgc>Agc	p.C3626S	DNAH2_ENST00000389173.2_Missense_Mutation_p.C3626S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3626					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.C3626S(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATATGGGCTGCATCGACCC	0.567																																																1	Substitution - Missense(1)	kidney(1)											112	91	98					17																	7722587		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10876T>A	17.37:g.7722587T>A	ENSP00000458355:p.Cys3626Ser		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	3.607	-0.080352	0.07141	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.85556	-2.0	4.02	2.0	0.26442	.	0.443962	0.23010	N	0.052966	T	0.48187	0.1486	N	0.00300	-1.685	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34279	-0.9835	10	0.09084	T	0.74	.	3.2601	0.06845	0.3147:0.4661:0.0:0.2192	.	3587;3626	Q9P225-2;Q9P225	.;DYH2_HUMAN	S	3587;3626	ENSP00000373825:C3626S	ENSP00000353818:C3587S	C	+	1	0	DNAH2	7663312	0.839000	0.29477	0.999000	0.59377	0.993000	0.82548	0.288000	0.18939	0.444000	0.26612	-0.366000	0.07423	TGC		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		A	7722587	T	A	7722587	3	1	538	1	0	0	0	0	1	0	0	0	4604	1580	55	5	11158	5	DNAH2	17	7722587	Missense_Mutation	SNP	T	TCGA-CJ-5672-01A-11D-1534-10	382520	7722587	73472623	73	28970											
SC65	10609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39967279	39967279	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr17:39967279A>T	ENST00000355468.3	-	4	1089	c.623T>A	c.(622-624)tTc>tAc	p.F208Y	FKBP10_ENST00000321562.4_5'Flank|LEPREL4_ENST00000393928.1_Missense_Mutation_p.F208Y			Q92791	SC65_HUMAN	leprecan-like 4	208					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)		p.F208Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						AGCCCGGAGGAACACGGCCTG	0.647																																																1	Substitution - Missense(1)	kidney(1)											42	43	43					17																	39967279		2203	4300	6503	SO:0001583	missense	10609			BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"nucleolar autoantigen (55kD)", "rat synaptonemal complex protein"			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.623T>A	17.37:g.39967279A>T	ENSP00000347649:p.Phe208Tyr		Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842743	0.91197	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.59083	0.29;0.29	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.59595	-0.7425	10	0.11485	T	0.65	-21.877	14.7617	0.69610	1.0:0.0:0.0:0.0	.	197;208	B4DVZ5;Q92791	.;SC65_HUMAN	Y	208;208;197	ENSP00000347649:F208Y;ENSP00000377505:F208Y	ENSP00000347649:F208Y	F	-	2	0	LEPREL4	37220805	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	9.059000	0.93902	2.158000	0.67659	0.533000	0.62120	TTC		0.647	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			T	39967279	A	T	39967279	3	4	538	1	0	0	0	0	1	0	0	0	13873	246	9	5	714	5	SC65	17	39967279	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	32244692	39967279	41227931	74	28971											
RNF43	54894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56435542	56435542	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr17:56435542G>A	ENST00000584437.1	-	8	3550	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	RNF43_ENST00000407977.2_Missense_Mutation_p.S532F|RNF43_ENST00000581868.1_Missense_Mutation_p.S405F|RNF43_ENST00000500597.2_Missense_Mutation_p.S491F|RNF43_ENST00000583753.1_Missense_Mutation_p.S491F|RNF43_ENST00000577716.1_Missense_Mutation_p.S532F|RNF43_ENST00000577625.1_Missense_Mutation_p.S405F|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	532					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S532F(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGAGTCCAAGGAACGAGGCCG	0.592																																																1	Substitution - Missense(1)	kidney(1)											73	72	72					17																	56435542		2203	4300	6503	SO:0001583	missense	54894				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1595C>T	17.37:g.56435542G>A	ENSP00000463069:p.Ser532Phe		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837754	0.71373	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.12465	2.78;2.68	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	T	0.27967	0.0689	L	0.36672	1.1	0.45087	D	0.998106	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.80764	0.991;0.994;0.986	T	0.01001	-1.1485	10	0.56958	D	0.05	-5.0974	15.2636	0.73643	0.0:0.0:1.0:0.0	.	491;532;532	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	F	532;491	ENSP00000385328:S532F;ENSP00000441969:S491F	ENSP00000385328:S532F	S	-	2	0	RNF43	53790541	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.008000	0.93601	2.388000	0.81334	0.174000	0.16983	TCC		0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		A	56435542	G	A	56435542	3	1	538	1	0	0	0	0	1	0	0	0	13501	1174	41	2	764	2	RNF43	17	56435542	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	16468263	56435542	24759668	75	28972											
ZNF57	126295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2917051	2917051	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr19:2917051G>C	ENST00000306908.5	+	4	580	c.432G>C	c.(430-432)aaG>aaC	p.K144N	ZNF57_ENST00000523428.1_Missense_Mutation_p.K112N|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K144N(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGCACCAAGTGCAGGACAG	0.448																																					NSCLC(150;910 1964 4303 10464 26498)											1	Substitution - Missense(1)	kidney(1)											117	93	101					19																	2917051		2203	4300	6503	SO:0001583	missense	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.432G>C	19.37:g.2917051G>C	ENSP00000303696:p.Lys144Asn		Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221508	0.39300	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000522294;ENST00000523428	T;T;T	0.52526	0.66;2.43;0.66	2.21	-1.25	0.09405	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34164	0.0888	L	0.28115	0.83	0.09310	N	1	P	0.47191	0.891	P	0.45558	0.485	T	0.23404	-1.0189	9	0.59425	D	0.04	.	5.7456	0.18118	0.6608:0.0:0.3392:0.0	.	144	Q68EA5	ZNF57_HUMAN	N	144;146;112;112	ENSP00000303696:K144N;ENSP00000430905:K112N;ENSP00000430223:K112N	ENSP00000303696:K144N	K	+	3	2	ZNF57	2868051	0.000000	0.05858	0.001000	0.08648	0.178000	0.23041	-0.993000	0.03720	-0.081000	0.12662	0.505000	0.49811	AAG		0.448	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		C	2917051	G	C	2917051	3	2	538	1	0	0	0	0	1	0	0	0	18006	1020	36	4	446	4	ZNF57	19	2917051	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10		2917051	56211932	76	28973											
ACER1	125981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6309756	6309756	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr19:6309756T>A	ENST00000301452.4	-	4	517	c.440A>T	c.(439-441)aAc>aTc	p.N147I		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	147					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)	p.N147I(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGCAATGCTGTTGAGGGCGTA	0.607																																																1	Substitution - Missense(1)	kidney(1)											147	110	123					19																	6309756		2203	4300	6503	SO:0001583	missense	125981			AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"Alkaline ceramidase"	18356	protein-coding gene	gene with protein product		613491	"N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.440A>T	19.37:g.6309756T>A	ENSP00000301452:p.Asn147Ile			Missense_Mutation	SNP	ENST00000301452.4	37	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.108581	0.56291	.	.	ENSG00000167769	ENST00000301452	T	0.42513	0.97	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54437	-0.8294	10	0.26408	T	0.33	-52.4102	11.7375	0.51773	0.0:0.0:0.0:1.0	.	147	Q8TDN7	ACER1_HUMAN	I	147	ENSP00000301452:N147I	ENSP00000301452:N147I	N	-	2	0	ACER1	6260756	1.000000	0.71417	0.999000	0.59377	0.240000	0.25518	6.914000	0.75764	1.674000	0.50907	0.443000	0.29094	AAC		0.607	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		A	6309756	T	A	6309756	3	1	538	1	0	0	0	0	1	0	0	0	138	1725	60	5	366	5	ACER1	19	6309756	Missense_Mutation	SNP	T	TCGA-CJ-5672-01A-11D-1534-10	3392705	6309756	52819227	77	28974											
MCOLN1	57192	hgsc.bcm.edu;ucsc.edu	37	19	7589957	7589957	+	Frame_Shift_Del	DEL	T	T	-	rs536694726		TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr19:7589957delT	ENST00000264079.6	+	2	267	c.142delT	c.(142-144)tttfs	p.F49fs		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	49					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTCAAATACTTTTTCATGAG	0.612																																																0													42	42	42					19																	7589957		2203	4300	6503	SO:0001589	frameshift_variant	57192			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.142delT	19.37:g.7589957delT	ENSP00000264079:p.Phe49fs		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Frame_Shift_Del	DEL	ENST00000264079.6	37	CCDS12180.1																																																																																				0.612	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		-	7589957	T	-	7589957	7	5	538	1	0	1	0	1	0	0	0	0	9397	1609	56	0	148	0	MCOLN1	19	7589957	Frame_Shift_Del	DEL	T	TCGA-CJ-5672-01A-11D-1534-10	1280201	7589957	51539026	78	28975											
COL5A3	50509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10084433	10084433	+	Splice_Site	SNP	T	T	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr19:10084433T>A	ENST00000264828.3	-	49	3696	c.3611A>T	c.(3610-3612)aAg>aTg	p.K1204M		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1204	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.K1204M(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTCACTCACCTTCTCACCCAC	0.607																																																1	Substitution - Missense(1)	kidney(1)											90	96	94					19																	10084433		2202	4300	6502	SO:0001630	splice_region_variant	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3612+1A>T	19.37:g.10084433T>A			Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830183	0.71258	.	.	ENSG00000080573	ENST00000264828	D	0.94330	-3.4	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.96169	0.8751	M	0.80508	2.5	0.51767	D	0.99993	D	0.76494	0.999	D	0.81914	0.995	D	0.96300	0.9220	10	0.66056	D	0.02	.	11.7622	0.51910	0.0:0.0:0.0:1.0	.	1204	P25940	CO5A3_HUMAN	M	1204	ENSP00000264828:K1204M	ENSP00000264828:K1204M	K	-	2	0	COL5A3	9945433	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.951000	0.56684	1.865000	0.54081	0.402000	0.26972	AAG		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	Missense_Mutation	A	10084433	T	A	10084433	5	1	538	1	0	0	0	0	0	0	1	0	3700	1623	56	5	1702	5	COL5A3	19	10084433	Splice_Site	SNP	T	TCGA-CJ-5672-01A-11D-1534-10	2494476	10084433	49044550	79	28976											
SIN3B	23309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	16977286	16977286	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr19:16977286G>T	ENST00000248054.5	+	12	1746	c.1725G>T	c.(1723-1725)caG>caT	p.Q575H	SIN3B_ENST00000379803.1_Missense_Mutation_p.Q607H|SIN3B_ENST00000595541.1_Missense_Mutation_p.Q165H					SIN3 transcription regulator family member B									p.Q607H(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TTGACCACCAGGCTGTGAACT	0.582																																																1	Substitution - Missense(1)	kidney(1)											158	112	127					19																	16977286		2203	4300	6503	SO:0001583	missense	23309			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.1725G>T	19.37:g.16977286G>T	ENSP00000248054:p.Gln575His			Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	G	18.80	3.701589	0.68501	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.53206	0.68;0.63	4.96	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.984	T	0.75816	-0.3184	10	0.72032	D	0.01	-20.6094	9.4399	0.38661	0.2318:0.0:0.7682:0.0	.	165;575;607	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	H	607;575	ENSP00000369131:Q607H;ENSP00000248054:Q575H	ENSP00000248054:Q575H	Q	+	3	2	SIN3B	16838286	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.590000	0.46154	0.502000	0.28037	0.491000	0.48974	CAG		0.582	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		T	16977286	G	T	16977286	3	4	538	1	0	0	0	0	1	0	0	0	14332	991	35	4	1871	4	SIN3B	19	16977286	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	6892853	16977286	42151697	80	28977											
ZNF780B	163131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40540306	40540306	+	Silent	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr19:40540306G>A	ENST00000434248.1	-	5	2525	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	ZNF780B_ENST00000221355.6_Silent_p.I672I	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	820					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I820I(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTTGCTACTGATGTCTGAAG	0.388																																																2	Substitution - coding silent(2)	kidney(2)											62	67	65					19																	40540306		2177	4289	6466	SO:0001819	synonymous_variant	163131			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.2460C>T	19.37:g.40540306G>A			B9EH00	Silent	SNP	ENST00000434248.1	37	CCDS46077.1																																																																																				0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		A	40540306	G	A	40540306	2	1	538	1	0	0	0	0	0	0	0	1	18158	1280	45	2		2	ZNF780B	19	40540306	Silent	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	23563020	40540306	18588677	81	28978											
BCL2L12	83596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50169188	50169188	+	Silent	SNP	G	G	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr19:50169188G>T	ENST00000246785.3	+	1	366	c.108G>T	c.(106-108)ccG>ccT	p.P36P	IRF3_ENST00000597198.1_5'Flank|BCL2L12_ENST00000246784.3_Silent_p.P36P|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|BCL2L12_ENST00000441864.2_Silent_p.P36P|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000377139.3_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000442265.2_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	36					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)		p.P36P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCAGCGTTCCGCCCTTTCTAC	0.602																																																1	Substitution - coding silent(1)	kidney(1)											31	32	31					19																	50169188		2203	4300	6503	SO:0001819	synonymous_variant	83596			AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.108G>T	19.37:g.50169188G>T			Q3SY11|Q3SY13|Q96I96|Q9HB08	Silent	SNP	ENST00000246785.3	37	CCDS12776.1																																																																																				0.602	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		T	50169188	G	T	50169188	2	4	538	1	0	0	0	0	0	0	0	1	1370	1074	38	4		4	BCL2L12	19	50169188	Silent	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	9628882	50169188	8959795	82	28979											
U2AF2	11338	hgsc.bcm.edu;ucsc.edu	37	19	56185308	56185310	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr19:56185308_56185310delGGA	ENST00000308924.4	+	12	1342_1344	c.1302_1304delGGA	c.(1300-1305)gtggag>gtg	p.E435del	EPN1_ENST00000411543.2_5'Flank|EPN1_ENST00000085079.7_5'Flank|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000450554.2_In_Frame_Del_p.E431del|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000590551.1_In_Frame_Del_p.E267del|CTD-2537I9.12_ENST00000585940.1_RNA|EPN1_ENST00000270460.6_5'Flank			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	435	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGATCTTTGTGGAGTTCACCTCT	0.567																																																0																																										SO:0001651	inframe_deletion	11338			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1302_1304delGGA	19.37:g.56185308_56185310delGGA	ENSP00000307863:p.Glu435del		Q96HC5	In_Frame_Del	DEL	ENST00000308924.4	37	CCDS12933.1																																																																																				0.567	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		-	56185310	GGA	-	56185308	7	5	538	1	0	1	0	1	0	0	0	0	16828	1335	47	0	1348	0	U2AF2	19	56185308	In_Frame_Del	DEL	GGA	TCGA-CJ-5672-01A-11D-1534-10	6016120	56185308	2943675	83	28980											
NLRP13	126204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56443398	56443398	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr19:56443398G>T	ENST00000342929.3	-	1	279	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	NLRP13_ENST00000588751.1_Missense_Mutation_p.L94M	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	94	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)	p.L94M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGTGAGGTCAGATTCATTGTC	0.512																																																1	Substitution - Missense(1)	kidney(1)											62	56	58					19																	56443398		2203	4300	6503	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.280C>A	19.37:g.56443398G>T	ENSP00000343891:p.Leu94Met		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933167	0.34096	.	.	ENSG00000173572	ENST00000342929	T	0.51817	0.69	1.97	1.97	0.26223	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.59088	0.2168	L	0.60455	1.87	0.09310	N	1	D	0.65815	0.995	D	0.71184	0.972	T	0.40327	-0.9569	9	0.51188	T	0.08	.	7.4755	0.27374	0.0:0.0:1.0:0.0	.	94	Q86W25	NAL13_HUMAN	M	94	ENSP00000343891:L94M	ENSP00000343891:L94M	L	-	1	2	NLRP13	61135210	0.028000	0.19301	0.018000	0.16275	0.077000	0.17291	1.729000	0.38115	1.422000	0.47177	0.591000	0.81541	CTG		0.512	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		T	56443398	G	T	56443398	3	4	538	1	0	0	0	0	1	0	0	0	10477	933	33	4	2893	4	NLRP13	19	56443398	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	258090	56443398	2685585	84	28981											
ESF1	51575	broad.mit.edu;ucsc.edu	37	20	13750637	13750637	+	Silent	SNP	A	A	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr20:13750637A>G	ENST00000202816.1	-	7	1541	c.1434T>C	c.(1432-1434)gaT>gaC	p.D478D		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D478D(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CCTTAGGCTCATCATCAAAAG	0.313																																																1	Substitution - coding silent(1)	kidney(1)											68	69	68					20																	13750637		2203	4296	6499	SO:0001819	synonymous_variant	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1434T>C	20.37:g.13750637A>G			Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Silent	SNP	ENST00000202816.1	37	CCDS13117.1																																																																																				0.313	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		G	13750637	A	G	13750637	2	3	538	1	0	0	0	0	0	0	0	1	5253	214	8	3		3	ESF1	20	13750637	Silent	SNP	A	TCGA-CJ-5672-01A-11D-1534-10		13750637	49274883	85	28982											
CDK5RAP1	51654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31958402	31958402	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr20:31958402A>T	ENST00000357886.4	-	12	1490	c.1337T>A	c.(1336-1338)tTt>tAt	p.F446Y	CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.F432Y|CDK5RAP1_ENST00000544843.1_Intron|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.F342Y|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.F355Y			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	446					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.F432Y(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTCACCACAAAAGCCAGCAAT	0.517																																																1	Substitution - Missense(1)	kidney(1)											242	196	212					20																	31958402		2203	4300	6503	SO:0001583	missense	51654			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1337T>A	20.37:g.31958402A>T	ENSP00000350558:p.Phe446Tyr		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.6|21.6	4.176789|4.176789	0.78564|0.78564	.|.	.|.	ENSG00000101391|ENSG00000101391	ENST00000427097|ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351	T|T;T;T;T	0.24350|0.25085	1.86|1.82;1.82;1.82;1.82	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58736|0.58736	0.2143|0.2143	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|0.987;1.0;1.0;0.998;1.0;1.0;1.0	.|P;D;D;D;D;D;D	.|0.97110	.|0.766;1.0;1.0;0.995;1.0;1.0;1.0	T|T	0.65697|0.65697	-0.6105|-0.6105	8|10	0.87932|0.44086	D|T	0|0.13	-25.6848|-25.6848	13.9344|13.9344	0.64017|0.64017	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|355;446;432;172;432;432;342	.|Q96SZ6-4;Q96SZ6;Q675N5;E9PF14;Q53H36;Q96SZ6-3;Q96SZ6-2	.|.;CK5P1_HUMAN;.;.;.;.;.	I|Y	101|432;446;355;342;172	ENSP00000409474:F101I|ENSP00000217372:F432Y;ENSP00000350558:F446Y;ENSP00000341840:F355Y;ENSP00000408133:F342Y	ENSP00000409474:F101I|ENSP00000341840:F355Y	F|F	-|-	1|2	0|0	CDK5RAP1|CDK5RAP1	31422063|31422063	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.659000|8.659000	0.91116|0.91116	2.172000|2.172000	0.68678|0.68678	0.459000|0.459000	0.35465|0.35465	TTT|TTT		0.517	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		T	31958402	A	T	31958402	3	4	538	1	0	0	0	0	1	0	0	0	3147	14	1	5	484	5	CDK5RAP1	20	31958402	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	18207765	31958402	31067118	86	28983											
PHF20	51230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34459576	34459576	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr20:34459576G>T	ENST00000374012.3	+	9	1236	c.1107G>T	c.(1105-1107)caG>caT	p.Q369H	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	369					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q369H(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TTCTAGGTCAGTTGAAGTCTG	0.453																																																1	Substitution - Missense(1)	kidney(1)											80	83	82					20																	34459576		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1107G>T	20.37:g.34459576G>T	ENSP00000363124:p.Gln369His		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984809	0.35036	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.50001	1.38;0.76;0.76	5.61	0.0789	0.14413	.	0.594765	0.19499	N	0.112799	T	0.47377	0.1442	L	0.47716	1.5	0.80722	D	1	D;D	0.62365	0.978;0.991	P;P	0.57548	0.641;0.823	T	0.41858	-0.9485	10	0.52906	T	0.07	.	3.7668	0.08626	0.2406:0.0:0.4709:0.2885	.	369;369	Q9BVI0;Q66K49	PHF20_HUMAN;.	H	369	ENSP00000363124:Q369H;ENSP00000341900:Q369H;ENSP00000363112:Q369H	ENSP00000341900:Q369H	Q	+	3	2	PHF20	33922990	0.995000	0.38212	0.934000	0.37439	0.082000	0.17680	-0.008000	0.12788	-0.188000	0.10499	-0.998000	0.02512	CAG		0.453	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		T	34459576	G	T	34459576	3	4	538	1	0	0	0	0	1	0	0	0	11833	1020	36	4	1137	4	PHF20	20	34459576	Missense_Mutation	SNP	G	TCGA-CJ-5672-01A-11D-1534-10	2501174	34459576	28565944	87	28984											
PCNT	5116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47850087	47850087	+	Silent	SNP	G	G	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chr21:47850087G>A	ENST00000359568.5	+	36	7961	c.7854G>A	c.(7852-7854)caG>caA	p.Q2618Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2618					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.Q2618Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAGCAGGCAGAAGAGCGAAC	0.617																																																1	Substitution - coding silent(1)	kidney(1)											83	80	81					21																	47850087		2203	4300	6503	SO:0001819	synonymous_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7854G>A	21.37:g.47850087G>A			O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																				0.617	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		A	47850087	G	A	47850087	2	1	538	1	0	0	0	0	0	0	0	1	11592	933	33	2		2	PCNT	21	47850087	Silent	SNP	G	TCGA-CJ-5672-01A-11D-1534-10		47850087	279808	88	28985											
APOO	79135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	23874429	23874429	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chrX:23874429T>A	ENST00000379226.4	-	7	782	c.551A>T	c.(550-552)aAc>aTc	p.N184I	APOO_ENST00000379220.3_Missense_Mutation_p.N165I	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	184					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)		p.N184I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						CTTTTGAAAGTTCTCCTTCCA	0.333																																																1	Substitution - Missense(1)	kidney(1)											151	154	153					X																	23874429		2203	4300	6503	SO:0001583	missense	79135			BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"Apolipoproteins"	28727	protein-coding gene	gene with protein product		300753	"family with sequence similarity 121B"	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.551A>T	X.37:g.23874429T>A	ENSP00000368528:p.Asn184Ile		B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638462	0.29157	.	.	ENSG00000184831	ENST00000379226;ENST00000439528;ENST00000379220	.	.	.	5.92	3.41	0.39046	.	0.262657	0.41938	D	0.000783	T	0.30448	0.0765	L	0.47716	1.5	0.35041	D	0.759766	P	0.42409	0.779	B	0.33690	0.168	T	0.35151	-0.9800	9	0.23302	T	0.38	-4.9766	4.778	0.13189	0.0:0.0968:0.1878:0.7155	.	184	Q9BUR5	APOO_HUMAN	I	184;164;165	.	ENSP00000368522:N165I	N	-	2	0	APOO	23784350	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	3.852000	0.55934	0.853000	0.35312	-0.448000	0.05591	AAC		0.333	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		A	23874429	T	A	23874429	3	1	538	1	0	0	0	0	1	0	0	0	813	1725	60	5	53	5	APOO	23	23874429	Missense_Mutation	SNP	T	TCGA-CJ-5672-01A-11D-1534-10		23874429	131396131	89	28986											
TAF1	6872	broad.mit.edu;hgsc.bcm.edu	37	X	70603945	70603945	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chrX:70603945A>G	ENST00000373790.4	+	13	2129	c.2078A>G	c.(2077-2079)cAg>cGg	p.Q693R	TAF1_ENST00000423759.1_Missense_Mutation_p.Q714R|TAF1_ENST00000276072.3_Missense_Mutation_p.Q714R|TAF1_ENST00000449580.1_Missense_Mutation_p.Q693R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	693	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q693R(1)|p.Q714R(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTAATGATGCAGGTTGGCATG	0.398																																																2	Substitution - Missense(2)	kidney(2)											120	101	107					X																	70603945		2203	4299	6502	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2078A>G	X.37:g.70603945A>G	ENSP00000362895:p.Gln693Arg		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	24.2	4.500569	0.85176	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	M	0.69248	2.105	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	T	0.08973	-1.0696	10	0.66056	D	0.02	.	15.2112	0.73225	1.0:0.0:0.0:0.0	.	693;714	P21675;P21675-2	TAF1_HUMAN;.	R	693;693;714;714	ENSP00000362895:Q693R;ENSP00000389000:Q693R;ENSP00000406549:Q714R;ENSP00000276072:Q714R	ENSP00000276072:Q714R	Q	+	2	0	TAF1	70520670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.818000	0.91991	1.976000	0.57569	0.486000	0.48141	CAG		0.398	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		G	70603945	A	G	70603945	3	3	538	1	0	0	0	0	1	0	0	0	15518	188	7	3	2191	3	TAF1	23	70603945	Missense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10	46729516	70603945	84666615	90	28987											
RNF128	79589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	105970595	105970595	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chrX:105970595delC	ENST00000255499.2	+	1	702	c.452delC	c.(451-453)accfs	p.T151fs	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	151	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTCCCCGGGACCCGCAATGAG	0.577																																																0													51	49	49					X																	105970595		2203	4300	6503	SO:0001589	frameshift_variant	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.452delC	X.37:g.105970595delC	ENSP00000255499:p.Thr151fs		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Del	DEL	ENST00000255499.2	37	CCDS14521.1																																																																																				0.577	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		-	105970595	C	-	105970595	7	5	538	1	0	1	0	1	0	0	0	0	13442	507	18	0	864	0	RNF128	23	105970595	Frame_Shift_Del	DEL	C	TCGA-CJ-5672-01A-11D-1534-10	35366650	105970595	49299965	91	28988											
MAGEA11	4110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	148797543	148797543	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chrX:148797543C>A	ENST00000355220.5	+	5	499	c.397C>A	c.(397-399)Ctg>Atg	p.L133M	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L104M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	133						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L133M(1)|p.G298G(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGAAGAAGACCTGGGCCTGGT	0.572																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)											46	47	47					X																	148797543		2203	4300	6503	SO:0001583	missense	4110				CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.397C>A	X.37:g.148797543C>A	ENSP00000347358:p.Leu133Met		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	7.326	0.617861	0.14129	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.04502	3.61;3.61;3.61	0.871	-0.251	0.13003	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.14270	0.0345	M	0.84683	2.71	0.09310	N	1	P;P	0.42993	0.465;0.797	P;P	0.52343	0.57;0.696	T	0.07635	-1.0762	8	0.62326	D	0.03	.	.	.	.	.	104;133	G5E962;P43364	.;MAGAB_HUMAN	M	104;104;133	ENSP00000391496:L104M;ENSP00000328177:L104M;ENSP00000347358:L133M	ENSP00000328177:L104M	L	+	1	2	MAGEA11	148576862	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.356000	0.20181	-0.147000	0.11254	0.429000	0.28392	CTG		0.572	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		A	148797543	C	A	148797543	3	1	538	1	0	0	0	0	1	0	0	0	9167	680	24	4	424	4	MAGEA11	23	148797543	Missense_Mutation	SNP	C	TCGA-CJ-5672-01A-11D-1534-10	42826948	148797543	6473017	92	28989											
HAUS7	55559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	152721103	152721103	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chrX:152721103T>C	ENST00000370211.4	-	8	900	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.Y286C|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_Missense_Mutation_p.T108A	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	286					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)	p.Y286C(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CTCGTCGTCGTAGACTTGGAG	0.632																																																1	Substitution - Missense(1)	kidney(1)											97	89	92					X																	152721103		2203	4300	6503	SO:0001583	missense	55559			AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"HAUS augmin-like complex subunits"	32979	protein-coding gene	gene with protein product	"UCH37 interacting protein 1", "26S proteasome-associated UCH interacting protein 1"	300540	"UCHL5 interacting protein"	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.857A>G	X.37:g.152721103T>C	ENSP00000359230:p.Tyr286Cys		B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	CCDS35438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.89|11.89	1.773971|1.773971	0.31411|0.31411	.|.	.|.	ENSG00000213397|ENSG00000213397	ENST00000435662;ENST00000421080|ENST00000370211;ENST00000370219;ENST00000370212	T|T;T;T	0.21543|0.25912	2.0|1.77;1.77;1.77	4.99|4.99	2.4|2.4	0.29515|0.29515	.|.	.|0.135145	.|0.50627	.|N	.|0.000108	T|T	0.42337|0.42337	0.1198|0.1198	M|M	0.72894|0.72894	2.215|2.215	0.19300|0.19300	N|N	0.999977|0.999977	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.17592|0.17592	-1.0364|-1.0364	7|10	0.06891|0.87932	T|D	0.86|0	-9.7153|-9.7153	3.9663|3.9663	0.09433|0.09433	0.1868:0.1094:0.0:0.7038|0.1868:0.1094:0.0:0.7038	.|.	.|286;286	.|Q99871;Q99871-2	.|HAUS7_HUMAN;.	A|C	70;108|276;286;286	ENSP00000395447:T108A|ENSP00000359230:Y276C;ENSP00000359239:Y286C;ENSP00000359231:Y286C	ENSP00000395447:T108A|ENSP00000359230:Y276C	T|Y	-|-	1|2	0|0	HAUS7|HAUS7	152374297|152374297	0.312000|0.312000	0.24545|0.24545	0.696000|0.696000	0.30242|0.30242	0.043000|0.043000	0.13939|0.13939	0.311000|0.311000	0.19380|0.19380	0.679000|0.679000	0.31345|0.31345	0.242000|0.242000	0.17961|0.17961	ACG|TAC		0.632	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		C	152721103	T	C	152721103	3	2	538	1	0	0	0	0	1	0	0	0	6973	1638	57	3	261	3	HAUS7	23	152721103	Missense_Mutation	SNP	T	TCGA-CJ-5672-01A-11D-1534-10	3923560	152721103	2549457	93	28990											
USP9Y	8287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	Y	14850172	14850172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-5672-01A-11D-1534-10	TCGA-CJ-5672-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61497c42-78f2-43d4-b2ab-2b1e655271a8	495879a9-ed52-43a8-99ea-37ca7008c323	g.chrY:14850172A>T	ENST00000338981.3	+	11	2191	c.1246A>T	c.(1246-1248)Aaa>Taa	p.K416*	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	416					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.K416*(1)		kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAAGCTAGAGAAAATTCTTCG	0.328																																																1	Substitution - Nonsense(1)	kidney(1)																																								SO:0001587	stop_gained	8287			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"Ubiquitin-specific peptidases"	12633	protein-coding gene	gene with protein product	"fat facets-like homolog (Drosophila)"	400005	"ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.1246A>T	Y.37:g.14850172A>T	ENSP00000342812:p.Lys416*		O14601	Nonsense_Mutation	SNP	ENST00000338981.3	37	CCDS14781.1																																																																																				0.328	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		T	14850172	A	T	14850172	4	4	538	1	0	0	0	0	0	1	0	0	17096	247	9	5	1280	5	USP9Y	24	14850172	Nonsense_Mutation	SNP	A	TCGA-CJ-5672-01A-11D-1534-10		14850172	44523394	94	28991											
FBXO42	54455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16577186	16577186	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr1:16577186G>C	ENST00000375592.3	-	10	2349	c.2133C>G	c.(2131-2133)taC>taG	p.Y711*		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	711								p.Y711*(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTCGTACAAAGTACAAGGCGT	0.403																																																1	Substitution - Nonsense(1)	kidney(1)											142	137	138					1																	16577186		2203	4300	6503	SO:0001587	stop_gained	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2133C>G	1.37:g.16577186G>C	ENSP00000364742:p.Tyr711*		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Nonsense_Mutation	SNP	ENST00000375592.3	37	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	38	7.023747	0.98010	.	.	ENSG00000037637	ENST00000375592	.	.	.	5.52	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4342	10.015	0.42010	0.1536:0.0:0.8464:0.0	.	.	.	.	X	711	.	ENSP00000364742:Y711X	Y	-	3	2	FBXO42	16449773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.377000	0.52425	1.478000	0.48253	0.655000	0.94253	TAC		0.403	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			C	16577186	G	C	16577186	4	2	539	1	0	0	0	0	0	1	0	0	5753	1024	36	4	24	4	FBXO42	1	16577186	Nonsense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10		16577186	232673435	1	28992											
SDC3	9672	hgsc.bcm.edu;ucsc.edu	37	1	31347255	31347255	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr1:31347255G>A	ENST00000339394.6	-	4	1225	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S	SDC3_ENST00000336798.7_Missense_Mutation_p.P293S|SDC3_ENST00000471567.1_5'Flank	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	351					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCCTTGGGCAGTGTCCCA	0.632																																																0													80	87	85					1																	31347255		2203	4300	6503	SO:0001583	missense	9672			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.1051C>T	1.37:g.31347255G>A	ENSP00000344468:p.Pro351Ser		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876360	0.72180	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.25414	1.8;1.8	4.84	4.84	0.62591	.	0.215329	0.30742	N	0.008963	T	0.27524	0.0676	N	0.19112	0.55	0.34810	D	0.737585	D;D	0.61697	0.99;0.975	P;P	0.57846	0.828;0.766	T	0.22521	-1.0214	10	0.38643	T	0.18	-17.9559	10.3322	0.43829	0.0:0.1541:0.7057:0.1402	.	351;293	O75056;D3DPN2	SDC3_HUMAN;.	S	293;351	ENSP00000338346:P293S;ENSP00000344468:P351S	ENSP00000338346:P293S	P	-	1	0	SDC3	31119842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.303000	0.43646	2.535000	0.85469	0.563000	0.77884	CCC		0.632	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		A	31347255	G	A	31347255	3	1	539	1	0	0	0	0	1	0	0	0	13959	1203	42	2	285	2	SDC3	1	31347255	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	14770069	31347255	217903366	2	28993											
CSMD2	114784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	34238249	34238249	+	Silent	SNP	G	G	A	rs142181378		TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr1:34238249G>A	ENST00000338325.1	-	7	1003	c.591C>T	c.(589-591)ccC>ccT	p.P197P	CSMD2_ENST00000373381.4_Silent_p.P589P			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	549	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P549P(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTCAAAGGCGGGCTGGCACT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20022	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	126	115	119		1647	-5.4	0.9	1	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CSMD2	NM_052896.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		549/3488	34238249	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.591C>T	1.37:g.34238249G>A			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000338325.1	37																																																																																					0.577	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		A	34238249	G	A	34238249	2	1	539	1	0	0	0	0	0	0	0	1	3947	1103	39	1		1	CSMD2	1	34238249	Silent	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	2890994	34238249	215012372	3	28994											
PCSK9	255738	broad.mit.edu;hgsc.bcm.edu	37	1	55529175	55529175	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr1:55529175G>A	ENST00000302118.5	+	12	2287	c.1997G>A	c.(1996-1998)aGc>aAc	p.S666N	PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	666	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S666N(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACTACAGGCAGCACCAGCGAA	0.677																																					Pancreas(137;1454 1827 5886 22361 42375)											1	Substitution - Missense(1)	kidney(1)											49	49	49					1																	55529175		2203	4300	6503	SO:0001583	missense	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1997G>A	1.37:g.55529175G>A	ENSP00000303208:p.Ser666Asn		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	8.377	0.836585	0.16891	.	.	ENSG00000169174	ENST00000302118	T	0.70986	-0.53	3.38	3.38	0.38709	.	0.731439	0.11551	N	0.552830	T	0.50274	0.1606	N	0.08118	0	0.31521	N	0.662415	B	0.02656	0.0	B	0.01281	0.0	T	0.52049	-0.8627	10	0.34782	T	0.22	-2.8182	11.2526	0.49034	0.0:0.1843:0.8157:0.0	.	666	Q8NBP7	PCSK9_HUMAN	N	666	ENSP00000303208:S666N	ENSP00000303208:S666N	S	+	2	0	PCSK9	55301763	0.113000	0.22115	0.002000	0.10522	0.013000	0.08279	3.458000	0.53014	1.869000	0.54173	0.455000	0.32223	AGC		0.677	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		A	55529175	G	A	55529175	3	1	539	1	0	0	0	0	1	0	0	0	11608	971	34	2	2043	2	PCSK9	1	55529175	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	21290926	55529175	193721446	4	28995											
CREB3L4	148327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153946103	153946103	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr1:153946103T>A	ENST00000368607.3	+	9	1171	c.905T>A	c.(904-906)cTt>cAt	p.L302H	CREB3L4_ENST00000405694.3_Missense_Mutation_p.L155H|JTB_ENST00000471173.1_5'Flank|CREB3L4_ENST00000368603.1_Missense_Mutation_p.L302H|CREB3L4_ENST00000368600.3_Missense_Mutation_p.L282H|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.L302H	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	302					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.L302H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGATTCTTCTTTTTTCCCTG	0.552																																																1	Substitution - Missense(1)	kidney(1)											28	31	30					1																	153946103		2203	4300	6503	SO:0001583	missense	148327			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"basic leucine zipper proteins"	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.905T>A	1.37:g.153946103T>A	ENSP00000357596:p.Leu302His		D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.276650	0.80580	.	.	ENSG00000143578	ENST00000405694;ENST00000368607;ENST00000271889;ENST00000368603;ENST00000368600	D;T;T;T;T	0.81659	-1.52;-0.61;-0.61;-0.61;-0.6	4.93	4.93	0.64822	.	0.157818	0.41605	D	0.000842	D	0.84588	0.5505	M	0.82323	2.585	0.58432	D	0.999999	D;D	0.65815	0.995;0.995	P;P	0.56700	0.804;0.804	D	0.87507	0.2437	10	0.87932	D	0	.	12.571	0.56337	0.0:0.0:0.0:1.0	.	282;302	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	H	155;302;302;302;282	ENSP00000385104:L155H;ENSP00000357596:L302H;ENSP00000271889:L302H;ENSP00000357592:L302H;ENSP00000357589:L282H	ENSP00000271889:L302H	L	+	2	0	CREB3L4	152212727	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.693000	0.74582	2.071000	0.62044	0.533000	0.62120	CTT		0.552	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		A	153946103	T	A	153946103	3	1	539	1	0	0	0	0	1	0	0	0	3861	1609	56	5	935	5	CREB3L4	1	153946103	Missense_Mutation	SNP	T	TCGA-CJ-5675-01A-11D-1534-10	98416928	153946103	95304518	5	28996											
OLFML2B	25903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161953786	161953786	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr1:161953786C>G	ENST00000294794.3	-	8	2355	c.1932G>C	c.(1930-1932)gaG>gaC	p.E644D	OLFML2B_ENST00000367940.2_Missense_Mutation_p.E645D|OLFML2B_ENST00000367938.1_Missense_Mutation_p.E127D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	644	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.E644D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGACAATGACCTCCTGGCTGA	0.607																																																1	Substitution - Missense(1)	kidney(1)											84	75	78					1																	161953786		2203	4300	6503	SO:0001583	missense	25903			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1932G>C	1.37:g.161953786C>G	ENSP00000294794:p.Glu644Asp		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543468	0.65198	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.88277	-2.36;-2.36;-2.23	5.36	4.44	0.53790	Olfactomedin-like (3);	.	.	.	.	D	0.89760	0.6808	L	0.60012	1.86	0.41904	D	0.990435	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.965	D	0.90557	0.4513	8	0.87932	D	0	.	8.605	0.33767	0.0:0.8227:0.0:0.1773	.	645;644	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	D	644;645;127	ENSP00000294794:E644D;ENSP00000356917:E645D;ENSP00000356915:E127D	ENSP00000294794:E644D	E	-	3	2	OLFML2B	160220410	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.406000	0.34646	1.216000	0.43427	0.561000	0.74099	GAG		0.607	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		G	161953786	C	G	161953786	3	3	539	1	0	0	0	0	1	0	0	0	10860	680	24	4	324	4	OLFML2B	1	161953786	Missense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	8007683	161953786	87296835	6	28997											
GPR37L1	9283	broad.mit.edu;hgsc.bcm.edu	37	1	202097558	202097558	+	Silent	SNP	C	C	T	rs200746512		TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr1:202097558C>T	ENST00000367282.5	+	2	1426	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	440					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.G440G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						AGGAGTGCGGCGGGGCTTCGG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17044	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											29	32	31					1																	202097558		2203	4298	6501	SO:0001819	synonymous_variant	9283			AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"GPCR / Class A : Orphans"	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1320C>T	1.37:g.202097558C>T			B2R7M9|Q5SXP7|Q86VP7	Silent	SNP	ENST00000367282.5	37	CCDS1420.1																																																																																				0.637	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		T	202097558	C	T	202097558	2	4	539	1	0	0	0	0	0	0	0	1	6694	755	27	1		1	GPR37L1	1	202097558	Silent	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	40143772	202097558	47153063	7	28998											
WDR35	57539	broad.mit.edu;ucsc.edu	37	2	20138115	20138115	+	Silent	SNP	C	C	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr2:20138115C>G	ENST00000345530.3	-	19	2122	c.2007G>C	c.(2005-2007)cgG>cgC	p.R669R	WDR35_ENST00000416055.2_Silent_p.R234R|WDR35_ENST00000281405.4_Silent_p.R658R	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	669					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.R669R(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGCAGAGACCGAATCTCAA	0.368																																																1	Substitution - coding silent(1)	kidney(1)											90	91	91					2																	20138115		2203	4300	6503	SO:0001819	synonymous_variant	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2007G>C	2.37:g.20138115C>G			B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	CCDS33152.1																																																																																				0.368	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		G	20138115	C	G	20138115	2	3	539	1	0	0	0	0	0	0	0	1	17294	494	18	4		4	WDR35	2	20138115	Silent	SNP	C	TCGA-CJ-5675-01A-11D-1534-10		20138115	223061258	8	28999											
SCN3A	6328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	165948825	165948825	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr2:165948825G>C	ENST00000360093.3	-	27	5237	c.4746C>G	c.(4744-4746)caC>caG	p.H1582Q	SCN3A_ENST00000540861.1_Missense_Mutation_p.H65Q|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.H1533Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.H1582Q|SCN3A_ENST00000465043.1_5'UTR	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1582					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.H1533Q(1)|p.H1582Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGAAGTAGTAGTGTCTGAGGG	0.433																																																2	Substitution - Missense(2)	kidney(2)											141	124	130					2																	165948825		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4746C>G	2.37:g.165948825G>C	ENSP00000353206:p.His1582Gln		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	11.51	1.661399	0.29515	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88	5.78	1.47	0.22746	.	0.219831	0.34386	N	0.004011	D	0.93012	0.7776	N	0.04320	-0.23	0.39741	D	0.971741	B;B;P	0.38078	0.429;0.134;0.617	B;B;B	0.43478	0.326;0.059;0.421	D	0.88870	0.3332	10	0.32370	T	0.25	.	6.6468	0.22939	0.5774:0.0:0.4226:0.0	.	1533;1533;1582	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	Q	1582;1582;1533;65	ENSP00000353206:H1582Q;ENSP00000283254:H1582Q;ENSP00000386726:H1533Q;ENSP00000439920:H65Q	ENSP00000283254:H1582Q	H	-	3	2	SCN3A	165657071	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.956000	0.49129	0.477000	0.27464	-0.229000	0.12294	CAC		0.433	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		C	165948825	G	C	165948825	3	2	539	1	0	0	0	0	1	0	0	0	13924	1020	36	4	1264	4	SCN3A	2	165948825	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	145810710	165948825	77250548	9	29000											
SCN9A	6335	hgsc.bcm.edu;ucsc.edu	37	2	167137006	167137006	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr2:167137006delT	ENST00000409435.1	-	13	2203	c.2204delA	c.(2203-2205)aagfs	p.K735fs	SCN9A_ENST00000375387.4_Frame_Shift_Del_p.K736fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K736fs|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K724fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	735					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATAGATACACTTTTTGAATTT	0.343																																																0													56	54	54					2																	167137006		1806	4083	5889	SO:0001589	frameshift_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2204delA	2.37:g.167137006delT	ENSP00000386330:p.Lys735fs		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Del	DEL	ENST00000409435.1	37	CCDS46441.1																																																																																				0.343	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		-	167137006	T	-	167137006	7	5	539	1	0	1	0	1	0	0	0	0	13931	1609	56	0	3818	0	SCN9A	2	167137006	Frame_Shift_Del	DEL	T	TCGA-CJ-5675-01A-11D-1534-10	1188181	167137006	76062367	10	29001											
ARL8B	55207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	5215726	5215726	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr3:5215726G>C	ENST00000256496.3	+	5	643	c.397G>C	c.(397-399)Gat>Cat	p.D133H	ARL8B_ENST00000468010.1_Splice_Site|ARL8B_ENST00000419534.2_Intron|AC026202.3_ENST00000439325.1_RNA	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	133					cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D133H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		AAACAAGAGAGATCTTCCTAA	0.313																																																1	Substitution - Missense(1)	kidney(1)											147	158	154					3																	5215726		2203	4300	6503	SO:0001583	missense	55207			AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25564	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10C"	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.397G>C	3.37:g.5215726G>C	ENSP00000256496:p.Asp133His		B4DI85	Missense_Mutation	SNP	ENST00000256496.3	37	CCDS2566.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718336	0.68844	.	.	ENSG00000134108	ENST00000256496;ENST00000438743	D	0.96856	-4.15	5.24	4.37	0.52481	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	H	0.99874	4.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.98411	1.0572	10	0.87932	D	0	-10.4929	14.0943	0.65010	0.0726:0.0:0.9274:0.0	.	124;133	B4DQT8;Q9NVJ2	.;ARL8B_HUMAN	H	133;185	ENSP00000256496:D133H	ENSP00000256496:D133H	D	+	1	0	ARL8B	5190726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.507000	0.97996	1.354000	0.45846	0.650000	0.86243	GAT		0.313	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206910.2	NM_018184		C	5215726	G	C	5215726	3	2	539	1	0	0	0	0	1	0	0	0	947	942	33	4	415	4	ARL8B	3	5215726	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10		5215726	192806704	11	29002											
NKTR	4820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	42680080	42680080	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr3:42680080G>T	ENST00000232978.8	+	13	3072	c.2884G>T	c.(2884-2886)Ggg>Tgg	p.G962W	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	962					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.G962W(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGACTCTGAGGGGTCCTGTTC	0.423																																																1	Substitution - Missense(1)	kidney(1)											87	89	88					3																	42680080		2203	4300	6503	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2884G>T	3.37:g.42680080G>T	ENSP00000232978:p.Gly962Trp			Missense_Mutation	SNP	ENST00000232978.8	37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	8.212	0.800554	0.16397	.	.	ENSG00000114857	ENST00000232978	T	0.12255	2.7	5.51	3.46	0.39613	.	0.454353	0.25352	N	0.031294	T	0.13500	0.0327	L	0.36672	1.1	0.80722	D	1	D;P	0.55800	0.973;0.948	P;B	0.49528	0.614;0.41	T	0.03249	-1.1056	10	0.87932	D	0	-1.2172	4.0369	0.09733	0.4089:0.0:0.5911:0.0	.	662;962	Q6M1B8;P30414	.;NKTR_HUMAN	W	962	ENSP00000232978:G962W	ENSP00000232978:G962W	G	+	1	0	NKTR	42655084	0.999000	0.42202	0.834000	0.33040	0.196000	0.23810	2.308000	0.43690	1.329000	0.45376	0.650000	0.86243	GGG		0.423	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		T	42680080	G	T	42680080	3	4	539	1	0	0	0	0	1	0	0	0	10450	1232	43	4	2930	4	NKTR	3	42680080	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	37464354	42680080	155342350	12	29003											
PARP9	83666	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122247559	122247559	+	Silent	SNP	G	G	C			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr3:122247559G>C	ENST00000360356.2	-	11	2444	c.2217C>G	c.(2215-2217)acC>acG	p.T739T	PARP9_ENST00000492382.1_Silent_p.T284T|PARP9_ENST00000477522.2_Silent_p.T704T|PARP9_ENST00000471785.1_Silent_p.T704T	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	739	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T739T(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGAGGTTCTTGGTGAAGTATA	0.383																																																1	Substitution - coding silent(1)	kidney(1)											98	95	96					3																	122247559		2203	4300	6503	SO:0001819	synonymous_variant	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2217C>G	3.37:g.122247559G>C			A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	CCDS3014.1																																																																																				0.383	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		C	122247559	G	C	122247559	2	2	539	1	0	0	0	0	0	0	0	1	11468	1335	47	4		4	PARP9	3	122247559	Silent	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	79567479	122247559	75774871	13	29004											
PLXNA1	5361	broad.mit.edu	37	3	126733641	126733641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr3:126733641C>A	ENST00000393409.2	+	13	2844	c.2844C>A	c.(2842-2844)taC>taA	p.Y948*	PLXNA1_ENST00000251772.4_Nonsense_Mutation_p.Y925*	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	948	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.Y925*(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACCACACTACCGCGCCCTGT	0.647																																																1	Substitution - Nonsense(1)	kidney(1)											68	49	55					3																	126733641		2202	4298	6500	SO:0001587	stop_gained	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2844C>A	3.37:g.126733641C>A	ENSP00000377061:p.Tyr948*			Nonsense_Mutation	SNP	ENST00000393409.2	37	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	38	6.890525	0.97912	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	.	.	.	4.21	4.21	0.49690	.	0.652496	0.14083	N	0.342524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	16.7531	0.85492	0.0:1.0:0.0:0.0	.	.	.	.	X	948;925	.	ENSP00000251772:Y925X	Y	+	3	2	PLXNA1	128216331	1.000000	0.71417	0.998000	0.56505	0.204000	0.24138	4.789000	0.62446	2.184000	0.69523	0.484000	0.47621	TAC		0.647	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		A	126733641	C	A	126733641	4	1	539	1	0	0	0	0	0	1	0	0	12121	518	18	4	2894	4	PLXNA1	3	126733641	Nonsense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	4486082	126733641	71288789	14	29005											
NPHP3	27031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132409424	132409424	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr3:132409424T>G	ENST00000337331.5	-	19	2727	c.2641A>C	c.(2641-2643)Aag>Cag	p.K881Q	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	881					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.K881Q(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCATGCAGCTTCTGTTTACTT	0.383																																																1	Substitution - Missense(1)	kidney(1)											93	96	95					3																	132409424		2203	4300	6503	SO:0001583	missense	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2641A>C	3.37:g.132409424T>G	ENSP00000338766:p.Lys881Gln		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532392	0.45073	.	.	ENSG00000113971	ENST00000393144;ENST00000337331	D	0.91843	-2.92	5.62	3.24	0.37175	.	0.093373	0.64402	N	0.000001	D	0.89329	0.6684	M	0.66939	2.045	0.80722	D	1	B	0.15719	0.014	B	0.14023	0.01	D	0.83726	0.0195	10	0.59425	D	0.04	-10.9007	8.1344	0.31046	0.0:0.0709:0.147:0.7821	.	881	Q7Z494	NPHP3_HUMAN	Q	161;881	ENSP00000338766:K881Q	ENSP00000338766:K881Q	K	-	1	0	NPHP3	133892114	1.000000	0.71417	0.933000	0.37362	0.667000	0.39255	3.902000	0.56310	0.412000	0.25729	0.482000	0.46254	AAG		0.383	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		G	132409424	T	G	132409424	3	3	539	1	0	0	0	0	1	0	0	0	10582	1792	62	5	1387	5	NPHP3	3	132409424	Missense_Mutation	SNP	T	TCGA-CJ-5675-01A-11D-1534-10	5675783	132409424	65613006	15	29006											
PRR23A	729627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	138724479	138724479	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr3:138724479G>A	ENST00000383163.2	-	1	631	c.632C>T	c.(631-633)tCt>tTt	p.S211F	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	211	Pro-rich.							p.S211F(1)		endometrium(3)|kidney(1)|lung(7)	11						GGGGCCTGGAGAGTGTCCCTC	0.647																																																1	Substitution - Missense(1)	kidney(1)											33	39	37					3																	138724479		692	1591	2283	SO:0001583	missense	729627				CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.632C>T	3.37:g.138724479G>A	ENSP00000372649:p.Ser211Phe			Missense_Mutation	SNP	ENST00000383163.2	37	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918681	0.33908	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.59	1.68	0.24146	.	1.264620	0.05719	N	0.597369	T	0.59838	0.2223	M	0.63843	1.955	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.36553	-0.9743	9	0.66056	D	0.02	.	6.7946	0.23719	0.0:0.0:0.7248:0.2752	.	211	A6NEV1	PR23A_HUMAN	F	211	.	ENSP00000372649:S211F	S	-	2	0	PRR23A	140207169	0.002000	0.14202	0.001000	0.08648	0.014000	0.08584	0.855000	0.27805	0.624000	0.30286	0.491000	0.48974	TCT		0.647	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		A	138724479	G	A	138724479	3	1	539	1	0	0	0	0	1	0	0	0	12599	942	33	2	172	2	PRR23A	3	138724479	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	6315055	138724479	59297951	16	29007											
ZBTB49	166793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	4303969	4303969	+	Silent	SNP	C	C	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr4:4303969C>T	ENST00000337872.4	+	3	527	c.406C>T	c.(406-408)Cta>Tta	p.L136L	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Silent_p.L136L	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L136L(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TACATTGTCTCTACAAAGCAC	0.438																																																1	Substitution - coding silent(1)	kidney(1)											131	123	126					4																	4303969		2203	4300	6503	SO:0001819	synonymous_variant	166793			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.406C>T	4.37:g.4303969C>T			Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	CCDS3375.1																																																																																				0.438	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		T	4303969	C	T	4303969	2	4	539	1	0	0	0	0	0	0	0	1	17555	912	32	2		2	ZBTB49	4	4303969	Silent	SNP	C	TCGA-CJ-5675-01A-11D-1534-10		4303969	186850307	17	29008											
TSPAN5	10098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	99397581	99397581	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr4:99397581C>T	ENST00000305798.3	-	6	1009	c.607G>A	c.(607-609)Gat>Aat	p.D203N	TSPAN5_ENST00000509168.1_5'Flank|TSPAN5_ENST00000505184.1_Missense_Mutation_p.D132N	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	203					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)	p.D203N(1)		kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TGCCTGGCATCATAGCCACAC	0.448																																																1	Substitution - Missense(1)	kidney(1)											168	141	150					4																	99397581		2203	4300	6503	SO:0001583	missense	10098				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"Tetraspanins"	17753	protein-coding gene	gene with protein product		613136	"transmembrane 4 superfamily member 9"	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.607G>A	4.37:g.99397581C>T	ENSP00000307701:p.Asp203Asn		B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340573	0.95783	.	.	ENSG00000168785	ENST00000305798;ENST00000505184	T;T	0.80304	-1.36;-1.36	5.61	5.61	0.85477	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.88573	0.6473	L	0.58354	1.805	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88058	0.2792	10	0.52906	T	0.07	.	19.6278	0.95687	0.0:1.0:0.0:0.0	.	203	P62079	TSN5_HUMAN	N	203;132	ENSP00000307701:D203N;ENSP00000423916:D132N	ENSP00000307701:D203N	D	-	1	0	TSPAN5	99616604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.620000	0.83070	2.646000	0.89796	0.585000	0.79938	GAT		0.448	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		T	99397581	C	T	99397581	3	4	539	1	0	0	0	0	1	0	0	0	16655	826	29	2	211	2	TSPAN5	4	99397581	Missense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	95093612	99397581	91756695	18	29009											
LEF1	51176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	109004590	109004590	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr4:109004590T>G	ENST00000265165.1	-	5	1214	c.560A>C	c.(559-561)cAt>cCt	p.H187P	LEF1_ENST00000512172.1_Missense_Mutation_p.H119P|LEF1_ENST00000438313.2_Missense_Mutation_p.H187P|LEF1_ENST00000379951.2_Missense_Mutation_p.H187P|LEF1_ENST00000510624.1_Missense_Mutation_p.H119P	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	187	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H119P(1)|p.H187P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGCTGGAGGATGTCTGGACAT	0.438																																																2	Substitution - Missense(2)	kidney(2)											124	109	114					4																	109004590		2203	4300	6503	SO:0001583	missense	51176				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.560A>C	4.37:g.109004590T>G	ENSP00000265165:p.His187Pro		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	T	5.470	0.271692	0.10349	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99121	-5.38;-5.45;-5.4;-5.36	5.64	5.64	0.86602	CTNNB1 binding, N-teminal (1);	0.046000	0.85682	D	0.000000	D	0.95598	0.8569	N	0.11313	0.125	0.51233	D	0.999911	B;B;B;B;B	0.30889	0.001;0.299;0.255;0.0;0.0	B;B;B;B;B	0.35278	0.001;0.199;0.095;0.001;0.002	D	0.95015	0.8155	10	0.02654	T	1	-21.1852	15.8595	0.79012	0.0:0.0:0.0:1.0	.	119;72;187;187;187	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	P	187;187;187;119;119;119	ENSP00000265165:H187P;ENSP00000369284:H187P;ENSP00000406176:H187P;ENSP00000422840:H119P	ENSP00000265165:H187P	H	-	2	0	LEF1	109224039	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.793000	0.55484	2.144000	0.66660	0.533000	0.62120	CAT		0.438	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			G	109004590	T	G	109004590	3	3	539	1	0	0	0	0	1	0	0	0	8716	1464	51	5	751	5	LEF1	4	109004590	Missense_Mutation	SNP	T	TCGA-CJ-5675-01A-11D-1534-10	9607009	109004590	82149686	19	29010											
MYO10	4651	broad.mit.edu	37	5	16674991	16674991	+	Silent	SNP	A	A	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr5:16674991A>G	ENST00000513610.1	-	35	5389	c.4935T>C	c.(4933-4935)atT>atC	p.I1645I	MYO10_ENST00000274203.9_Silent_p.I1002I|MYO10_ENST00000427430.2_Silent_p.I1002I|MYO10_ENST00000505695.1_Silent_p.I984I|MYO10_ENST00000515803.1_Silent_p.I984I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1645	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.I1645I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GATACTTGAGAATCCCTCGAC	0.572																																																1	Substitution - coding silent(1)	kidney(1)											112	114	114					5																	16674991		2062	4212	6274	SO:0001819	synonymous_variant	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4935T>C	5.37:g.16674991A>G			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																				0.572	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		G	16674991	A	G	16674991	2	3	539	1	0	0	0	0	0	0	0	1	10064	242	9	3		3	MYO10	5	16674991	Silent	SNP	A	TCGA-CJ-5675-01A-11D-1534-10		16674991	164240269	20	29011											
ADAMTS12	81792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33881335	33881335	+	Silent	SNP	G	G	C			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr5:33881335G>C	ENST00000504830.1	-	2	713	c.378C>G	c.(376-378)ctC>ctG	p.L126L	ADAMTS12_ENST00000352040.3_Silent_p.L126L|ADAMTS12_ENST00000515401.1_Silent_p.L126L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	126					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L126L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAACATGGGAGAGGTTCCCAT	0.502										HNSCC(64;0.19)																																						2	Substitution - coding silent(2)	kidney(2)											86	83	84					5																	33881335		2203	4300	6503	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.378C>G	5.37:g.33881335G>C			A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		C	33881335	G	C	33881335	2	2	539	1	0	0	0	0	0	0	0	1	257	929	33	4		4	ADAMTS12	5	33881335	Silent	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	17206344	33881335	147033925	21	29012											
C5orf28	64417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43446548	43446548	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr5:43446548A>T	ENST00000500337.2	-	5	755	c.424T>A	c.(424-426)Tgc>Agc	p.C142S	C5orf28_ENST00000397080.3_Missense_Mutation_p.C142S|C5orf28_ENST00000512085.1_Missense_Mutation_p.C142S|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000537319.1_Missense_Mutation_p.C11S|C5orf28_ENST00000510130.1_Missense_Mutation_p.C40S			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	142						integral component of membrane (GO:0016021)		p.C142S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					GGAAGAAAGCACCATGAGTCT	0.438																																																1	Substitution - Missense(1)	kidney(1)											109	101	104					5																	43446548		2203	4300	6503	SO:0001583	missense	64417			AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.424T>A	5.37:g.43446548A>T	ENSP00000426067:p.Cys142Ser		B2RDA6|Q9H6Z2	Missense_Mutation	SNP	ENST00000500337.2	37	CCDS3945.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226015	0.39300	.	.	ENSG00000151881	ENST00000500337;ENST00000537319;ENST00000397080;ENST00000512085;ENST00000510130;ENST00000506860	.	.	.	5.95	4.8	0.61643	.	0.166603	0.64402	N	0.000002	T	0.58104	0.2099	M	0.72118	2.19	0.58432	D	0.999996	B	0.06786	0.001	B	0.09377	0.004	T	0.52711	-0.8539	9	0.18276	T	0.48	-32.7975	11.229	0.48901	0.9278:0.0:0.0722:0.0	.	142	Q0VDI3	CE028_HUMAN	S	142;11;142;142;40;142	.	ENSP00000380270:C142S	C	-	1	0	C5orf28	43482305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.127000	0.77210	1.082000	0.41137	0.533000	0.62120	TGC		0.438	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483		T	43446548	A	T	43446548	3	4	539	1	0	0	0	0	1	0	0	0	2291	159	6	5	227	5	C5orf28	5	43446548	Missense_Mutation	SNP	A	TCGA-CJ-5675-01A-11D-1534-10	9565213	43446548	137468712	22	29013											
DHX29	54505	hgsc.bcm.edu;ucsc.edu	37	5	54569200	54569201	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr5:54569200_54569201insTA	ENST00000251636.5	-	17	2843_2844	c.2695_2696insTA	c.(2695-2697)aaafs	p.K899fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	899	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGCTATCACTTTATATCTGAAA	0.351																																																0																																										SO:0001589	frameshift_variant	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2694_2695dupTA	5.37:g.54569203_54569204dupTA	ENSP00000251636:p.Lys899fs		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Frame_Shift_Ins	INS	ENST00000251636.5	37	CCDS34158.1																																																																																				0.351	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		TA	54569201	-	TA	54569200	7	5	539	1	0	1	1	0	0	0	0	0	4505	1841	64	0	1457	0	DHX29	5	54569200	Frame_Shift_Ins	INS	-	TCGA-CJ-5675-01A-11D-1534-10	11122652	54569200	126346060	23	29014											
MAST4	375449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66460450	66460450	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr5:66460450G>A	ENST00000403625.2	+	29	5738	c.5443G>A	c.(5443-5445)Gcc>Acc	p.A1815T	MAST4_ENST00000261569.7_Missense_Mutation_p.A1621T|MAST4_ENST00000403666.1_Missense_Mutation_p.A1626T|MAST4_ENST00000404260.3_Missense_Mutation_p.A1818T|MAST4_ENST00000405643.1_Missense_Mutation_p.A1636T	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1818						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.A1818T(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGGACCTCAGGCCTCCAAGAC	0.602																																																1	Substitution - Missense(1)	kidney(1)											86	92	90					5																	66460450		1996	4172	6168	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5443G>A	5.37:g.66460450G>A	ENSP00000385727:p.Ala1815Thr		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.247481|5.247481	0.95305|0.95305	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.69806|.	-0.41;-0.41;-0.43;-0.43;-0.4|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.110832|.	0.40908|.	D|.	0.000988|.	T|T	0.59770|0.59770	0.2218|0.2218	L|L	0.34521|0.34521	1.04|1.04	0.39328|0.39328	D|D	0.965364|0.965364	P;D|.	0.55605|.	0.953;0.972|.	P;P|.	0.49752|.	0.556;0.621|.	T|T	0.56183|0.56183	-0.8021|-0.8021	10|5	0.56958|.	D|.	0.05|.	-16.916|-16.916	18.8046|18.8046	0.92032|0.92032	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1818;1626|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	T|D	1818;1815;1626;1636;1636;1621|871	ENSP00000385048:A1818T;ENSP00000385727:A1815T;ENSP00000384313:A1626T;ENSP00000384099:A1636T;ENSP00000261569:A1621T|.	ENSP00000261569:A1621T|.	A|G	+|+	1|2	0|0	MAST4|MAST4	66496206|66496206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.866000|2.866000	0.48420|0.48420	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.602	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			A	66460450	G	A	66460450	3	1	539	1	0	0	0	0	1	0	0	0	9329	1203	42	2	5687	2	MAST4	5	66460450	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	11891250	66460450	114454810	24	29015											
ADAMTS2	9509	broad.mit.edu;hgsc.bcm.edu	37	5	178548695	178548695	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr5:178548695C>G	ENST00000251582.7	-	21	3246	c.3145G>C	c.(3145-3147)Gac>Cac	p.D1049H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1049					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1049H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GAGTCGGGGTCCGGGCGGGAC	0.622																																																1	Substitution - Missense(1)	kidney(1)											182	194	190					5																	178548695		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3145G>C	5.37:g.178548695C>G	ENSP00000251582:p.Asp1049His			Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598671	0.46318	.	.	ENSG00000087116	ENST00000251582	T	0.60040	0.22	5.74	4.87	0.63330	.	0.099352	0.43260	D	0.000584	T	0.61375	0.2342	M	0.62723	1.935	0.80722	D	1	P	0.39216	0.664	P	0.44772	0.46	T	0.62081	-0.6929	10	0.42905	T	0.14	.	13.6324	0.62202	0.0:0.9262:0.0:0.0738	.	1049	O95450	ATS2_HUMAN	H	1049	ENSP00000251582:D1049H	ENSP00000251582:D1049H	D	-	1	0	ADAMTS2	178481301	0.999000	0.42202	0.180000	0.23079	0.851000	0.48451	4.232000	0.58645	1.433000	0.47394	0.555000	0.69702	GAC		0.622	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		G	178548695	C	G	178548695	3	3	539	1	0	0	0	0	1	0	0	0	265	855	30	4	498	4	ADAMTS2	5	178548695	Missense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	112088245	178548695	2366565	25	29016											
BAT2	7916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	31598498	31598498	+	Silent	SNP	C	C	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr6:31598498C>A	ENST00000376033.2	+	15	2619	c.2385C>A	c.(2383-2385)gtC>gtA	p.V795V	PRRC2A_ENST00000376007.4_Silent_p.V795V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	795	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V795V(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TAGGAGATGTCTTCACCGCCA	0.592																																																1	Substitution - coding silent(1)	kidney(1)											78	68	72					6																	31598498		2203	4300	6503	SO:0001819	synonymous_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2385C>A	6.37:g.31598498C>A			B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	CCDS4708.1																																																																																				0.592	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		A	31598498	C	A	31598498	2	1	539	1	0	0	0	0	0	0	0	1	1319	900	32	4		4	BAT2	6	31598498	Silent	SNP	C	TCGA-CJ-5675-01A-11D-1534-10		31598498	139516569	26	29017											
MDGA1	266727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	37606075	37606075	+	Silent	SNP	C	C	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr6:37606075C>T	ENST00000434837.3	-	16	3860	c.2682G>A	c.(2680-2682)ggG>ggA	p.G894G	MDGA1_ENST00000505425.1_Silent_p.G894G|MDGA1_ENST00000297153.7_Silent_p.G898G	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	894	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.G896G(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGCCTCGAACCCCCTCAAAAA	0.567																																																1	Substitution - coding silent(1)	kidney(1)											46	46	46					6																	37606075		1845	4099	5944	SO:0001819	synonymous_variant	266727			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2682G>A	6.37:g.37606075C>T			A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	CCDS47417.1																																																																																				0.567	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			T	37606075	C	T	37606075	2	4	539	1	0	0	0	0	0	0	0	1	9408	610	22	2		2	MDGA1	6	37606075	Silent	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	6007577	37606075	133508992	27	29018											
FAM83B	222584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	54806400	54806400	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr6:54806400C>G	ENST00000306858.7	+	5	2747	c.2631C>G	c.(2629-2631)ttC>ttG	p.F877L	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	877								p.F877L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAAGCAAGTTCTTGGAAAGGG	0.428																																																1	Substitution - Missense(1)	kidney(1)											66	64	65					6																	54806400		2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2631C>G	6.37:g.54806400C>G	ENSP00000304078:p.Phe877Leu		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.445444	0.01089	.	.	ENSG00000168143	ENST00000306858	T	0.28895	1.59	5.34	2.58	0.30949	.	0.334169	0.30043	N	0.010560	T	0.05868	0.0153	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44081	-0.9351	10	0.02654	T	1	-5.4276	8.3491	0.32292	0.0:0.6126:0.2422:0.1452	.	877	Q5T0W9	FA83B_HUMAN	L	877	ENSP00000304078:F877L	ENSP00000304078:F877L	F	+	3	2	FAM83B	54914359	0.356000	0.24930	0.115000	0.21578	0.113000	0.19764	0.210000	0.17455	-0.000000	0.14550	-0.795000	0.03280	TTC		0.428	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		G	54806400	C	G	54806400	3	3	539	1	0	0	0	0	1	0	0	0	5636	912	32	4	2645	4	FAM83B	6	54806400	Missense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	17200325	54806400	116308667	28	29019											
ALDH8A1	64577	hgsc.bcm.edu;ucsc.edu	37	6	135254009	135254009	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr6:135254009G>T	ENST00000265605.2	-	5	822	c.754C>A	c.(754-756)Ctg>Atg	p.L252M	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.L252M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.L202M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	252				L -> P (in Ref. 3; BAD96568). {ECO:0000305}.	9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCCAGCTCCAGGGAGAGCTTT	0.617																																																0													81	84	83					6																	135254009		2203	4300	6503	SO:0001583	missense	64577			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.754C>A	6.37:g.135254009G>T	ENSP00000265605:p.Leu252Met		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040374	0.35989	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	D;D;D	0.82984	-1.67;-1.67;-1.67	5.45	3.66	0.41972	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.069187	0.64402	D	0.000013	T	0.81621	0.4861	L	0.55834	1.745	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79082	-0.1949	10	0.30078	T	0.28	.	8.1092	0.30905	0.3048:0.0:0.6952:0.0	.	202;252;252	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	252;252;202	ENSP00000265605:L252M;ENSP00000356819:L252M;ENSP00000356821:L202M	ENSP00000265605:L252M	L	-	1	2	ALDH8A1	135295702	1.000000	0.71417	0.635000	0.29338	0.005000	0.04900	3.857000	0.55972	0.665000	0.31066	0.557000	0.71058	CTG		0.617	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			T	135254009	G	T	135254009	3	4	539	1	0	0	0	0	1	0	0	0	505	991	35	4	721	4	ALDH8A1	6	135254009	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	80447609	135254009	35861058	29	29020											
KCTD7	154881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	66103318	66103318	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr7:66103318C>G	ENST00000275532.3	+	3	577	c.393C>G	c.(391-393)taC>taG	p.Y131*	KCTD7_ENST00000443322.1_Nonsense_Mutation_p.Y131*	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	131	BTB.				cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Y131*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGGCCCAGTACTATGCCATCG	0.572																																																1	Substitution - Nonsense(1)	kidney(1)											84	77	79					7																	66103318		2203	4300	6503	SO:0001587	stop_gained	154881			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.393C>G	7.37:g.66103318C>G	ENSP00000275532:p.Tyr131*		A4D2M4|Q8IVR0	Nonsense_Mutation	SNP	ENST00000275532.3	37	CCDS5534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	28.2|28.2	4.898639|4.898639	0.91962|0.91962	.|.	.|.	ENSG00000243335|ENSG00000243335	ENST00000449064|ENST00000275532;ENST00000443322	.|.	.|.	.|.	5.8|5.8	3.98|3.98	0.46160|0.46160	.|.	0.000000|.	0.33272|.	N|.	0.005083|.	T|.	0.31544|.	0.0800|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13176|.	-1.0519|.	6|.	0.34782|0.02654	T|T	0.22|1	-4.409|-4.409	10.3553|10.3553	0.43960|0.43960	0.0:0.7827:0.0:0.2173|0.0:0.7827:0.0:0.2173	.|.	.|.	.|.	.|.	V|X	75|131	.|.	ENSP00000388463:L75V|ENSP00000275532:Y131X	L|Y	+|+	1|3	2|2	KCTD7|KCTD7	65740753|65740753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	1.797000|1.797000	0.38804|0.38804	1.469000|1.469000	0.48083|0.48083	0.561000|0.561000	0.74099|0.74099	CTA|TAC		0.572	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		G	66103318	C	G	66103318	4	3	539	1	0	0	0	0	0	1	0	0	8116	576	20	4	403	4	KCTD7	7	66103318	Nonsense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10		66103318	93035345	30	29021											
PPP1R9A	55607	hgsc.bcm.edu;ucsc.edu	37	7	94919499	94919499	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr7:94919499delA	ENST00000433881.1	+	16	3713	c.3181delA	c.(3181-3183)aaafs	p.K1061fs	PPP1R9A_ENST00000456331.2_Frame_Shift_Del_p.K1216fs|PPP1R9A_ENST00000289495.5_Frame_Shift_Del_p.K1259fs|PPP1R9A_ENST00000424654.1_Frame_Shift_Del_p.K1216fs|PPP1R9A_ENST00000340694.4_Frame_Shift_Del_p.K1061fs|PPP1R9A_ENST00000433360.1_Frame_Shift_Del_p.K1337fs			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1061	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GGCCCAAGAGAAAATGGAAAA	0.453										HNSCC(28;0.073)																																						0													91	89	90					7																	94919499		2203	4300	6503	SO:0001589	frameshift_variant	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.3181delA	7.37:g.94919499delA	ENSP00000398870:p.Lys1061fs		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Frame_Shift_Del	DEL	ENST00000433881.1	37	CCDS34683.1																																																																																				0.453	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		-	94919499	A	-	94919499	7	5	539	1	0	1	0	1	0	0	0	0	12383	247	9	0	4111	0	PPP1R9A	7	94919499	Frame_Shift_Del	DEL	A	TCGA-CJ-5675-01A-11D-1534-10	28816181	94919499	64219164	31	29022											
MOSPD3	64598	broad.mit.edu;hgsc.bcm.edu	37	7	100211260	100211260	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr7:100211260C>T	ENST00000393950.2	+	3	724	c.442C>T	c.(442-444)Cca>Tca	p.P148S	MOSPD3_ENST00000424091.2_Missense_Mutation_p.P138S|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P148S|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P148S	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	148					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.P148S(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCAGGGACAGCCAGATCCAGC	0.622																																																1	Substitution - Missense(1)	kidney(1)											56	53	54					7																	100211260		2203	4300	6503	SO:0001583	missense	64598			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.442C>T	7.37:g.100211260C>T	ENSP00000377522:p.Pro148Ser		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	C	5.031	0.191432	0.09547	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	.	.	.	4.12	0.286	0.15710	.	0.738322	0.11866	N	0.521852	T	0.13030	0.0316	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23190	-1.0195	9	0.38643	T	0.18	-0.0023	6.2728	0.20963	0.0:0.5487:0.0:0.4513	.	138;148	C9JE89;O75425	.;MSPD3_HUMAN	S	148;148;148;148;138;134	.	ENSP00000223054:P148S	P	+	1	0	MOSPD3	100049196	0.000000	0.05858	0.024000	0.17045	0.604000	0.37047	-0.270000	0.08584	0.034000	0.15491	0.563000	0.77884	CCA		0.622	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		T	100211260	C	T	100211260	3	4	539	1	0	0	0	0	1	0	0	0	9719	739	26	2	452	2	MOSPD3	7	100211260	Missense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	5291761	100211260	58927403	32	29023											
ATP6V0A4	50617	broad.mit.edu;ucsc.edu	37	7	138417832	138417832	+	Silent	SNP	G	G	A	rs367943974		TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr7:138417832G>A	ENST00000310018.2	-	17	1980	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	ATP6V0A4_ENST00000393054.1_Silent_p.F566F|ATP6V0A4_ENST00000353492.4_Silent_p.F566F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	566					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.F566F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAGTTCTTCTGAAGTATCTGG	0.378																																																1	Substitution - coding silent(1)	kidney(1)											93	89	90					7																	138417832		2203	4300	6503	SO:0001819	synonymous_variant	50617			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1698C>T	7.37:g.138417832G>A			A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	CCDS5849.1																																																																																				0.378	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		A	138417832	G	A	138417832	2	1	539	1	0	0	0	0	0	0	0	1	1170	1281	45	2		2	ATP6V0A4	7	138417832	Silent	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	38206572	138417832	20720831	33	29024											
NCOA2	10499	hgsc.bcm.edu;ucsc.edu	37	8	71068322	71068322	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr8:71068322G>T	ENST00000452400.2	-	11	2459	c.2278C>A	c.(2278-2280)Cca>Aca	p.P760T	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	760					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTTATTTCTGGTAAACCAATA	0.393			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													121	121	121					8																	71068322		1857	4109	5966	SO:0001583	missense	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2278C>A	8.37:g.71068322G>T	ENSP00000399968:p.Pro760Thr		Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625634	0.28889	.	.	ENSG00000140396	ENST00000452400	T	0.01495	4.83	5.65	4.77	0.60923	.	0.209202	0.50627	D	0.000116	T	0.01189	0.0039	N	0.17082	0.46	0.80722	D	1	P	0.44627	0.839	B	0.36134	0.218	T	0.71451	-0.4589	10	0.12766	T	0.61	.	10.2537	0.43383	0.0713:0.1351:0.7936:0.0	.	760	Q15596	NCOA2_HUMAN	T	760	ENSP00000399968:P760T	ENSP00000399968:P760T	P	-	1	0	NCOA2	71230876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.702000	0.54800	1.389000	0.46526	0.563000	0.77884	CCA		0.393	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			T	71068322	G	T	71068322	3	4	539	1	0	0	0	0	1	0	0	0	10231	1261	44	4	2168	4	NCOA2	8	71068322	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10		71068322	75295700	34	29025											
ADCY8	114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	131916170	131916170	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr8:131916170T>G	ENST00000286355.5	-	7	3851	c.1759A>C	c.(1759-1761)Att>Ctt	p.I587L	ADCY8_ENST00000377928.3_Missense_Mutation_p.I587L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	587					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.I587L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCTGCTTAATTAAGTAAGTT	0.488										HNSCC(32;0.087)																																						1	Substitution - Missense(1)	kidney(1)											142	129	133					8																	131916170		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1759A>C	8.37:g.131916170T>G	ENSP00000286355:p.Ile587Leu			Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	36	5.614003	0.96637	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.77877	-1.13;-1.13;-1.13	6.17	6.17	0.99709	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	M	0.67700	2.07	0.46954	D	0.999266	P;B	0.34522	0.455;0.164	D;P	0.72625	0.978;0.706	D	0.87291	0.2299	10	0.46703	T	0.11	.	16.0034	0.80327	0.0:0.0:0.0:1.0	.	587;587	E7EVL1;P40145	.;ADCY8_HUMAN	L	587;587;202	ENSP00000286355:I587L;ENSP00000367161:I587L;ENSP00000428010:I202L	ENSP00000286355:I587L	I	-	1	0	ADCY8	131985352	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.106000	0.64597	2.371000	0.80710	0.533000	0.62120	ATT		0.488	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			G	131916170	T	G	131916170	3	3	539	1	0	0	0	0	1	0	0	0	300	1493	52	5	2044	5	ADCY8	8	131916170	Missense_Mutation	SNP	T	TCGA-CJ-5675-01A-11D-1534-10	60847848	131916170	14447852	35	29026											
KCNQ3	3786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	133141908	133141908	+	Silent	SNP	C	C	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr8:133141908C>T	ENST00000388996.4	-	15	2640	c.2220G>A	c.(2218-2220)acG>acA	p.T740T	KCNQ3_ENST00000519445.1_Silent_p.T728T|KCNQ3_ENST00000521134.1_Silent_p.T620T	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	740					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.T740T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTCCACATACGTTGTTGCTG	0.592																																																1	Substitution - coding silent(1)	kidney(1)											39	40	40					8																	133141908		2203	4300	6503	SO:0001819	synonymous_variant	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2220G>A	8.37:g.133141908C>T			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	CCDS34943.1																																																																																				0.592	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		T	133141908	C	T	133141908	2	4	539	1	0	0	0	0	0	0	0	1	8086	523	19	1		1	KCNQ3	8	133141908	Silent	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	1225738	133141908	13222114	36	29027											
PLEC	5339	broad.mit.edu	37	8	144995868	144995868	+	Silent	SNP	A	A	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr8:144995868A>G	ENST00000322810.4	-	32	8701	c.8532T>C	c.(8530-8532)aaT>aaC	p.N2844N	PLEC_ENST00000527096.1_Silent_p.N2730N|PLEC_ENST00000357649.2_Silent_p.N2711N|PLEC_ENST00000354958.2_Silent_p.N2685N|PLEC_ENST00000354589.3_Silent_p.N2707N|PLEC_ENST00000345136.3_Silent_p.N2707N|PLEC_ENST00000356346.3_Silent_p.N2693N|PLEC_ENST00000436759.2_Silent_p.N2734N|PLEC_ENST00000398774.2_Silent_p.N2675N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2844	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.N2844N(1)|p.N2707N(1)|p.N2734N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCAGCTTCTCATTGGTGGCCT	0.672																																																3	Substitution - coding silent(3)	kidney(3)											43	47	46					8																	144995868		2174	4268	6442	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8532T>C	8.37:g.144995868A>G			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144995868	A	G	144995868	2	3	539	1	0	0	0	0	0	0	0	1	12054	214	8	3		3	PLEC	8	144995868	Silent	SNP	A	TCGA-CJ-5675-01A-11D-1534-10	11853960	144995868	1368154	37	29028											
SARDH	1757	broad.mit.edu	37	9	136577831	136577831	+	Splice_Site	SNP	C	C	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr9:136577831C>G	ENST00000371872.4	-	10	1495	c.1238G>C	c.(1237-1239)gGa>gCa	p.G413A	SARDH_ENST00000422262.2_Splice_Site_p.G245A|SARDH_ENST00000439388.1_Splice_Site_p.G413A	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	413					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.G413A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCATCATTCCTGGCAGGAA	0.627																																																1	Substitution - Missense(1)	kidney(1)											47	48	48					9																	136577831		2203	4300	6503	SO:0001630	splice_region_variant	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1238-1G>C	9.37:g.136577831C>G			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643075	0.87859	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227	D;D;D	0.94758	-3.51;-3.51;-3.51	4.3	4.3	0.51218	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99870	1.1095	10	0.87932	D	0	.	16.7838	0.85569	0.0:1.0:0.0:0.0	.	413	Q9UL12	SARDH_HUMAN	A	413;413;245;413;413	ENSP00000360938:G413A;ENSP00000403084:G413A;ENSP00000415537:G245A	ENSP00000360938:G413A	G	-	2	0	SARDH	135567652	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.488000	0.81441	1.947000	0.56498	0.491000	0.48974	GGA		0.627	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		Missense_Mutation	G	136577831	C	G	136577831	5	3	539	1	0	0	0	0	0	0	1	0	13847	869	30	4	1566	4	SARDH	9	136577831	Splice_Site	SNP	C	TCGA-CJ-5675-01A-11D-1534-10		136577831	4635600	38	29029											
NDST2	8509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75567375	75567375	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr10:75567375G>A	ENST00000309979.6	-	3	1328	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.R258C|NDST2_ENST00000299641.4_Missense_Mutation_p.R135C			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	258	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.R258C(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CGGGCCCGACGAAGAACTGGT	0.562																																																1	Substitution - Missense(1)	kidney(1)											52	52	52					10																	75567375		2203	4300	6503	SO:0001583	missense	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.772C>T	10.37:g.75567375G>A	ENSP00000310657:p.Arg258Cys		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895387	0.72639	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.44881	1.23;0.91	5.75	5.75	0.90469	.	0.144197	0.51477	D	0.000086	T	0.45875	0.1364	N	0.14661	0.345	0.52501	D	0.999951	P;D	0.69078	0.939;0.997	P;P	0.57548	0.759;0.823	T	0.50021	-0.8876	10	0.59425	D	0.04	.	19.9417	0.97165	0.0:0.0:1.0:0.0	.	135;258	B4E139;P52849	.;NDST2_HUMAN	C	258;135	ENSP00000310657:R258C;ENSP00000299641:R135C	ENSP00000299641:R135C	R	-	1	0	NDST2	75237381	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	4.654000	0.61469	2.720000	0.93068	0.655000	0.94253	CGT		0.562	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		A	75567375	G	A	75567375	3	1	539	1	0	0	0	0	1	0	0	0	10258	1058	37	1	1931	1	NDST2	10	75567375	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10		75567375	59967372	39	29030											
RNLS	55328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	90122392	90122392	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr10:90122392A>G	ENST00000331772.4	-	5	639	c.617T>C	c.(616-618)aTt>aCt	p.I206T	RNLS_ENST00000437752.1_Missense_Mutation_p.I123T|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000371947.3_Missense_Mutation_p.I206T	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	206					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)	p.I206T(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGGGACATCAATCTTCGTACC	0.468																																																1	Substitution - Missense(1)	kidney(1)											145	134	138					10																	90122392		2203	4300	6503	SO:0001583	missense	55328			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"chromosome 10 open reading frame 59"	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.617T>C	10.37:g.90122392A>G	ENSP00000332530:p.Ile206Thr		Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000331772.4	37	CCDS31239.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027487	0.75390	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	D;T;D	0.92249	-3.0;0.83;-3.0	6.07	4.94	0.65067	Amine oxidase (1);	0.048062	0.85682	D	0.000000	D	0.94863	0.8340	M	0.74881	2.28	0.54753	D	0.999981	D;P;D	0.76494	0.999;0.952;0.982	D;P;P	0.83275	0.996;0.845;0.888	D	0.92994	0.6417	10	0.24483	T	0.36	.	11.2306	0.48910	0.9276:0.0:0.0724:0.0	.	123;206;206	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	T	206;123;206	ENSP00000361015:I206T;ENSP00000387577:I123T;ENSP00000332530:I206T	ENSP00000332530:I206T	I	-	2	0	RNLS	90112372	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.306000	0.72810	1.117000	0.41842	0.477000	0.44152	ATT		0.468	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		G	90122392	A	G	90122392	3	3	539	1	0	0	0	0	1	0	0	0	13511	101	4	3	499	3	RNLS	10	90122392	Missense_Mutation	SNP	A	TCGA-CJ-5675-01A-11D-1534-10	14555017	90122392	45412355	40	29031											
MADD	8567	hgsc.bcm.edu;ucsc.edu	37	11	47299728	47299730	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	CCA	CCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr11:47299728_47299730delCCA	ENST00000311027.5	+	6	1273_1275	c.1108_1110delCCA	c.(1108-1110)ccadel	p.P370del	MADD_ENST00000342922.4_In_Frame_Del_p.P370del|MADD_ENST00000402192.2_In_Frame_Del_p.P370del|MADD_ENST00000407859.3_In_Frame_Del_p.P370del|MADD_ENST00000349238.3_In_Frame_Del_p.P370del|MADD_ENST00000395336.3_In_Frame_Del_p.P370del|MADD_ENST00000395344.3_In_Frame_Del_p.P370del|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402799.1_In_Frame_Del_p.P370del|MADD_ENST00000406482.1_In_Frame_Del_p.P370del	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCTGTTGGCTCCAACCCCGTACA	0.443																																																0																																										SO:0001651	inframe_deletion	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1108_1110delCCA	11.37:g.47299728_47299730delCCA	ENSP00000310933:p.Pro370del			In_Frame_Del	DEL	ENST00000311027.5	37	CCDS7930.1																																																																																				0.443	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			-	47299730	CCA	-	47299728	7	5	539	1	0	1	0	1	0	0	0	0	9154	855	30	0	1126	0	MADD	11	47299728	In_Frame_Del	DEL	CCA	TCGA-CJ-5675-01A-11D-1534-10		47299728	87706788	41	29032											
CARNS1	57571	broad.mit.edu	37	11	67191044	67191044	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr11:67191044C>A	ENST00000307823.3	+	9	1908	c.1456C>A	c.(1456-1458)Cag>Aag	p.Q486K	CARNS1_ENST00000445895.2_Missense_Mutation_p.Q609K|CARNS1_ENST00000423745.2_Missense_Mutation_p.Q486K|CARNS1_ENST00000531040.1_Missense_Mutation_p.Q583K|CARNS1_ENST00000524740.1_3'UTR	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	486					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)	p.Q44K(1)|p.Q609K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CCTGCTCTGCCAGGAGCTAGG	0.652																																																2	Substitution - Missense(2)	kidney(2)											30	39	36					11																	67191044		2145	4252	6397	SO:0001583	missense	57571				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1456C>A	11.37:g.67191044C>A	ENSP00000308268:p.Gln486Lys		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	37	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634769	0.29068	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	T;T;T;T	0.30981	1.54;1.51;1.51;1.53	5.14	3.16	0.36331	.	0.174408	0.27249	N	0.020240	T	0.18593	0.0446	N	0.24115	0.695	0.22888	N	0.998602	B;B	0.19200	0.02;0.034	B;B	0.18561	0.01;0.022	T	0.09164	-1.0687	10	0.37606	T	0.19	-16.1512	8.5266	0.33309	0.2383:0.5469:0.2148:0.0	.	486;625	A5YM72;A5YM72-3	CRNS1_HUMAN;.	K	583;486;583;486;609	ENSP00000431670:Q583K;ENSP00000308268:Q486K;ENSP00000401519:Q486K;ENSP00000389009:Q609K	ENSP00000308268:Q486K	Q	+	1	0	CARNS1	66947620	0.998000	0.40836	1.000000	0.80357	0.938000	0.57974	0.463000	0.21972	2.397000	0.81536	0.549000	0.68633	CAG		0.652	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		A	67191044	C	A	67191044	3	1	539	1	0	0	0	0	1	0	0	0	2658	595	21	4	1859	4	CARNS1	11	67191044	Missense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	19891316	67191044	67815472	42	29033											
CCDC81	60494	broad.mit.edu;ucsc.edu	37	11	86097136	86097137	+	Nonsense_Mutation	DNP	GC	GC	TT			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr11:86097136_86097137GC>TT	ENST00000445632.2	+	2	395_396	c.123_124GC>TT	c.(121-126)cgGCag>cgTTag	p.Q42*	CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q42*|CCDC81_ENST00000278487.3_5'UTR	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	42								p.R41R(2)|p.Q42*(2)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TTGTGAGACGGCAGTTAACCCT	0.302																																																4	Substitution - Nonsense(2)|Substitution - coding silent(2)	kidney(4)																																								SO:0001587	stop_gained	60494			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	Exception_encountered	11.37:g.86097136_86097137delinsTT	ENSP00000415528:p.Gln42*		A0AVL7|Q53FW3|Q9H5E5	Silent|Nonsense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1																																																																																				0.302	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		TT	86097137	GC	TT	86097136	4	4	539	1	0	0	0	0	0	1	0	0	2857	1190	42	4	129	4	CCDC81	11	86097136	Nonsense_Mutation	DNP	GC	TCGA-CJ-5675-01A-11D-1534-10	18906092	86097136	48909380	43	29034											
GALNT4	8693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	89917147	89917147	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr12:89917147A>T	ENST00000529983.2	-	1	1436	c.1180T>A	c.(1180-1182)Ttc>Atc	p.F394I	RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.F222I|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.F391I|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	394					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.F394I(1)		endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CTATTGTAGAAGTGCTCTTTG	0.458																																																1	Substitution - Missense(1)	kidney(1)											83	77	79					12																	89917147		1860	4096	5956	SO:0001583	missense	100528030			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1180T>A	12.37:g.89917147A>T	ENSP00000436604:p.Phe394Ile		B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296528	0.81025	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;T;T	0.70399	-0.48;-0.48;-0.48	5.66	5.66	0.87406	.	.	.	.	.	T	0.70718	0.3256	M	0.63428	1.95	0.51482	D	0.999922	B;B	0.28055	0.199;0.126	B;B	0.34180	0.177;0.086	T	0.67848	-0.5564	9	0.33141	T	0.24	.	15.0588	0.71936	1.0:0.0:0.0:0.0	.	391;394	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	I	391;222;394	ENSP00000447852:F391I;ENSP00000389686:F222I;ENSP00000436604:F394I	ENSP00000436604:F394I	F	-	1	0	GALNT4;RP11-1109F11.4	88441278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.268000	0.95675	2.151000	0.67156	0.482000	0.46254	TTC		0.458	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		T	89917147	A	T	89917147	3	4	539	1	0	0	0	0	1	0	0	0	6217	72	3	5	560	5	GALNT4	12	89917147	Missense_Mutation	SNP	A	TCGA-CJ-5675-01A-11D-1534-10		89917147	43934748	44	29035											
KBTBD6	89890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41706026	41706026	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr13:41706026A>C	ENST00000379485.1	-	1	856	c.622T>G	c.(622-624)Tca>Gca	p.S208A	KBTBD6_ENST00000499385.2_Missense_Mutation_p.S142A	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	208								p.S208A(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCCCGAATTGAACCCATGTGG	0.562																																																1	Substitution - Missense(1)	kidney(1)											82	80	81					13																	41706026		2203	4300	6503	SO:0001583	missense	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.622T>G	13.37:g.41706026A>C	ENSP00000368799:p.Ser208Ala		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	a	0.007	-1.989012	0.00439	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.75938	-0.87;-0.98	3.69	-1.7	0.08159	BTB/Kelch-associated (2);	0.239217	0.21672	N	0.070844	T	0.42200	0.1192	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.005	T	0.21724	-1.0237	10	0.37606	T	0.19	.	3.0357	0.06121	0.4343:0.0:0.3632:0.2025	.	142;208	F5GZN7;Q86V97	.;KBTB6_HUMAN	A	208;142	ENSP00000368799:S208A;ENSP00000444326:S142A	ENSP00000368799:S208A	S	-	1	0	KBTBD6	40604026	0.127000	0.22367	0.084000	0.20598	0.330000	0.28571	0.854000	0.27791	-0.141000	0.11374	0.379000	0.24179	TCA		0.562	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		C	41706026	A	C	41706026	3	2	539	1	0	0	0	0	1	0	0	0	7999	246	9	5	1406	5	KBTBD6	13	41706026	Missense_Mutation	SNP	A	TCGA-CJ-5675-01A-11D-1534-10		41706026	73463852	45	29036											
DIS3	22894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	73336063	73336063	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr13:73336063T>G	ENST00000377767.4	-	17	2440	c.2340A>C	c.(2338-2340)agA>agC	p.R780S	DIS3_ENST00000545453.1_Missense_Mutation_p.R618S|DIS3_ENST00000377780.4_Missense_Mutation_p.R750S	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	780					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.R780S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAAAATACCTTCTAATGGGTG	0.318										Multiple Myeloma(4;0.011)																																						1	Substitution - Missense(1)	kidney(1)											57	57	57					13																	73336063		2203	4299	6502	SO:0001583	missense	22894			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2340A>C	13.37:g.73336063T>G	ENSP00000366997:p.Arg780Ser		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939169	0.73557	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.74842	-0.88;-0.88;-0.88	5.69	5.69	0.88448	Ribonuclease II/R, conserved site (1);Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.93051	0.7788	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96286	0.9210	10	0.87932	D	0	.	15.9458	0.79792	0.0:0.0:0.0:1.0	.	750;780	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	S	780;750;618	ENSP00000366997:R780S;ENSP00000367011:R750S;ENSP00000440058:R618S	ENSP00000366997:R780S	R	-	3	2	DIS3	72234064	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.284000	0.51708	2.162000	0.67917	0.459000	0.35465	AGA		0.318	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		G	73336063	T	G	73336063	3	3	539	1	0	0	0	0	1	0	0	0	4537	1780	62	5	556	5	DIS3	13	73336063	Missense_Mutation	SNP	T	TCGA-CJ-5675-01A-11D-1534-10	31630037	73336063	41833815	46	29037											
TJP1	7082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	30064288	30064288	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr15:30064288T>G	ENST00000346128.6	-	4	765	c.291A>C	c.(289-291)aaA>aaC	p.K97N	TJP1_ENST00000356107.6_Missense_Mutation_p.K97N|TJP1_ENST00000545208.2_Missense_Mutation_p.K97N|TJP1_ENST00000495972.2_Missense_Mutation_p.K97N|TJP1_ENST00000400011.2_Missense_Mutation_p.K101N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	97	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.K97N(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTTTCCCACTTTTCCTTAGTT	0.353																																					Melanoma(77;681 1843 6309 6570)											1	Substitution - Missense(1)	kidney(1)											69	62	64					15																	30064288		1813	4078	5891	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.291A>C	15.37:g.30064288T>G	ENSP00000281537:p.Lys97Asn		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.630482	0.46944	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.22	2.82	0.32997	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.33710	1.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.992	D;D;D;P	0.97110	0.999;0.999;1.0;0.856	T	0.01688	-1.1295	9	.	.	.	.	10.0095	0.41977	0.0:0.1377:0.0:0.8623	.	90;97;97;101	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	N	97;101;97;97;97	ENSP00000281537:K97N;ENSP00000382890:K101N;ENSP00000441202:K97N;ENSP00000348416:K97N	.	K	-	3	2	TJP1	27851580	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	3.401000	0.52601	0.367000	0.24454	0.477000	0.44152	AAA		0.353	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		G	30064288	T	G	30064288	3	3	539	1	0	0	0	0	1	0	0	0	15934	1838	64	5	5055	5	TJP1	15	30064288	Missense_Mutation	SNP	T	TCGA-CJ-5675-01A-11D-1534-10		30064288	72467104	47	29038											
SRRM2	23524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2809006	2809006	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr16:2809006C>T	ENST00000301740.8	+	6	1163	c.614C>T	c.(613-615)cCt>cTt	p.P205L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	205	Lys-rich.|Ser-rich.|Sufficient for RNA-binding.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.P205L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCAGCTCTCCTCGACGGGAG	0.473																																																1	Substitution - Missense(1)	kidney(1)											102	100	101					16																	2809006		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.614C>T	16.37:g.2809006C>T	ENSP00000301740:p.Pro205Leu		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498974	0.64298	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.26660	1.72	4.59	4.59	0.56863	.	0.000000	0.49916	D	0.000140	T	0.46464	0.1394	L	0.58810	1.83	0.51767	D	0.999935	D	0.89917	1.0	D	0.80764	0.994	T	0.40776	-0.9545	10	0.48119	T	0.1	-12.7588	14.8866	0.70572	0.0:1.0:0.0:0.0	.	205	Q9UQ35	SRRM2_HUMAN	L	205;205;109;170	ENSP00000301740:P205L	ENSP00000301740:P205L	P	+	2	0	SRRM2	2749007	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.563000	0.45922	2.077000	0.62373	0.561000	0.74099	CCT		0.473	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			T	2809006	C	T	2809006	3	4	539	1	0	0	0	0	1	0	0	0	15174	681	24	2	632	2	SRRM2	16	2809006	Missense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10		2809006	87545747	48	29039											
CDH11	1009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	64981780	64981780	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr16:64981780G>A	ENST00000268603.4	-	13	2732	c.2117C>T	c.(2116-2118)cCt>cTt	p.P706L	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.P580L	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	706					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P706L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCGGAGCCCAGGTCTAGGCAT	0.517			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	1	Substitution - Missense(1)	kidney(1)											125	118	120					16																	64981780		2203	4300	6503	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2117C>T	16.37:g.64981780G>A	ENSP00000268603:p.Pro706Leu		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	7.596	0.671733	0.14776	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.76968	-1.06	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.206639	0.51477	D	0.000084	T	0.63827	0.2544	N	0.25201	0.72	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.57510	-0.7799	10	0.13108	T	0.6	.	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	706	P55287	CAD11_HUMAN	L	706;689	ENSP00000268603:P706L	ENSP00000268603:P706L	P	-	2	0	CDH11	63539281	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	6.519000	0.73768	2.941000	0.99782	0.655000	0.94253	CCT		0.517	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		A	64981780	G	A	64981780	3	1	539	1	0	0	0	0	1	0	0	0	3099	1000	35	2	277	2	CDH11	16	64981780	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	62172774	64981780	25372973	49	29040											
ZFHX3	463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	72993014	72993014	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr16:72993014T>A	ENST00000268489.5	-	2	1703	c.1031A>T	c.(1030-1032)aAc>aTc	p.N344I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	344					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.N344I(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAAGTTTTTGTTTTTTGGTTC	0.428																																																1	Substitution - Missense(1)	kidney(1)											63	70	68					16																	72993014		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1031A>T	16.37:g.72993014T>A	ENSP00000268489:p.Asn344Ile		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	4.633	0.117698	0.08881	.	.	ENSG00000140836	ENST00000268489	T	0.74209	-0.82	4.92	3.81	0.43845	.	0.000000	0.53938	D	0.000058	T	0.73241	0.3562	L	0.36672	1.1	0.80722	D	1	D	0.62365	0.991	P	0.54060	0.741	T	0.73151	-0.4073	10	0.52906	T	0.07	.	11.5036	0.50451	0.0:0.0:0.2844:0.7156	.	344	Q15911	ZFHX3_HUMAN	I	344	ENSP00000268489:N344I	ENSP00000268489:N344I	N	-	2	0	ZFHX3	71550515	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.227000	0.32576	0.814000	0.34374	0.482000	0.46254	AAC		0.428	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72993014	T	A	72993014	3	1	539	1	0	0	0	0	1	0	0	0	17639	1725	60	5	10116	5	ZFHX3	16	72993014	Missense_Mutation	SNP	T	TCGA-CJ-5675-01A-11D-1534-10	8011234	72993014	17361739	50	29041											
NT5M	56953	broad.mit.edu	37	17	17250185	17250185	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr17:17250185T>C	ENST00000389022.4	+	5	827	c.611T>C	c.(610-612)cTg>cCg	p.L204P	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	204					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)	p.L204P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CACCTGCAGCTGCAGCCCCCC	0.672																																																1	Substitution - Missense(1)	kidney(1)											30	36	34					17																	17250185		2202	4298	6500	SO:0001583	missense	56953			AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"5' nucleotidase, mitochondrial"			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.611T>C	17.37:g.17250185T>C	ENSP00000373674:p.Leu204Pro			Missense_Mutation	SNP	ENST00000389022.4	37	CCDS32581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.08|17.08	3.297044|3.297044	0.60086|0.60086	.|.	.|.	ENSG00000205309|ENSG00000205309	ENST00000446264|ENST00000389022	.|T	.|0.49139	.|0.79	5.79|5.79	4.72|4.72	0.59763|0.59763	.|HAD-like domain (2);	0.043809|.	0.85682|.	D|.	0.000000|.	T|T	0.48660|0.48660	0.1512|0.1512	M|M	0.61703|0.61703	1.905|1.905	0.47214|0.47214	D|D	0.999351|0.999351	B|B;B	0.32350|0.28439	0.366|0.212;0.212	B|B;B	0.27796|0.36030	0.083|0.216;0.216	T|T	0.52230|0.52230	-0.8603|-0.8603	9|9	0.72032|0.54805	D|T	0.01|0.06	-30.5484|-30.5484	10.2483|10.2483	0.43354|0.43354	0.0:0.0778:0.0:0.9222|0.0:0.0778:0.0:0.9222	.|.	203|210;204	F6S3X3|Q2I378;Q9NPB1	.|.;NT5M_HUMAN	R|P	203|204	.|ENSP00000373674:L204P	ENSP00000390695:C203R|ENSP00000373674:L204P	C|L	+|+	1|2	0|0	NT5M|NT5M	17190910|17190910	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	3.300000|3.300000	0.51834|0.51834	2.203000|2.203000	0.70933|0.70933	0.459000|0.459000	0.35465|0.35465	TGC|CTG		0.672	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			C	17250185	T	C	17250185	3	2	539	1	0	0	0	0	1	0	0	0	10696	1580	55	3	629	3	NT5M	17	17250185	Missense_Mutation	SNP	T	TCGA-CJ-5675-01A-11D-1534-10		17250185	63945025	51	29042											
TLCD1	116238	broad.mit.edu;hgsc.bcm.edu	37	17	27052361	27052361	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr17:27052361C>G	ENST00000292090.3	-	3	431	c.321G>C	c.(319-321)caG>caC	p.Q107H	SNORD4B_ENST00000459083.1_RNA|TLCD1_ENST00000394933.3_Missense_Mutation_p.Q60H|AC010761.14_ENST00000587898.1_RNA|SNORD4A_ENST00000459174.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD42A_ENST00000459584.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	107	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q107H(1)		breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGGCTCGCGTCTGTCCGCTAG	0.517																																																1	Substitution - Missense(1)	kidney(1)											78	67	71					17																	27052361		2203	4300	6503	SO:0001583	missense	116238			BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.321G>C	17.37:g.27052361C>G	ENSP00000292090:p.Gln107His		A8MYP9	Missense_Mutation	SNP	ENST00000292090.3	37	CCDS11242.1	.	.	.	.	.	.	.	.	.	.	C	8.139	0.784768	0.16189	.	.	ENSG00000160606	ENST00000292090;ENST00000394933	D;D	0.85171	-1.95;-1.95	5.62	2.55	0.30701	TRAM/LAG1/CLN8 homology domain (3);	0.054643	0.85682	D	0.000000	D	0.86744	0.6006	L	0.51422	1.61	0.41020	D	0.985074	D;D	0.69078	0.996;0.997	D;D	0.66084	0.941;0.938	T	0.82378	-0.0487	10	0.28530	T	0.3	-14.1051	8.4745	0.33005	0.0:0.7567:0.0:0.2433	.	60;107	A8MYP9;Q96CP7	.;TLCD1_HUMAN	H	107;60	ENSP00000292090:Q107H;ENSP00000378391:Q60H	ENSP00000292090:Q107H	Q	-	3	2	TLCD1	24076488	0.016000	0.18221	0.066000	0.19879	0.065000	0.16274	-0.027000	0.12371	0.403000	0.25479	0.555000	0.69702	CAG		0.517	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1	NM_138463		G	27052361	C	G	27052361	3	3	539	1	0	0	0	0	1	0	0	0	15942	912	32	4	430	4	TLCD1	17	27052361	Missense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	9802176	27052361	54142849	52	29043											
LHX1	3975	hgsc.bcm.edu;ucsc.edu	37	17	35295520	35295520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr17:35295520delG	ENST00000254457.5	+	1	1437	c.26delG	c.(25-27)aggfs	p.R9fs	RP11-445F12.1_ENST00000528383.1_RNA|RP11-445F12.1_ENST00000529264.1_RNA|RP11-445F12.2_ENST00000607336.1_RNA|RP11-445F12.1_ENST00000532387.2_RNA|RP11-445F12.1_ENST00000525111.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	9	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GGCTGCAAAAGGCCCATCCTG	0.562																																																0													92	85	87					17																	35295520		2203	4300	6503	SO:0001589	frameshift_variant	3975			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.26delG	17.37:g.35295520delG	ENSP00000254457:p.Arg9fs		Q3MIW0	Frame_Shift_Del	DEL	ENST00000254457.5	37	CCDS11316.1																																																																																				0.562	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		-	35295520	G	-	35295520	7	5	539	1	0	1	0	1	0	0	0	0	8772	1000	35	0	28	0	LHX1	17	35295520	Frame_Shift_Del	DEL	G	TCGA-CJ-5675-01A-11D-1534-10	8243159	35295520	45899690	53	29044											
NMT1	4836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	43173564	43173564	+	Silent	SNP	A	A	C			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr17:43173564A>C	ENST00000592782.1	+	6	638	c.507A>C	c.(505-507)ctA>ctC	p.L169L	NMT1_ENST00000258960.2_Silent_p.L169L|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	169					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.L169L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CTTTACAGCTAAAAGAACTGT	0.433																																																1	Substitution - coding silent(1)	kidney(1)											145	136	139					17																	43173564		2203	4300	6503	SO:0001819	synonymous_variant	4836				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.507A>C	17.37:g.43173564A>C			A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.763062	0.31228	.	.	ENSG00000136448	ENST00000543908	T	0.42900	0.96	5.65	0.127	0.14727	.	.	.	.	.	T	0.47619	0.1455	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46679	-0.9174	6	0.87932	D	0	-13.6584	7.7356	0.28812	0.1842:0.3212:0.4946:0.0	.	.	.	.	Q	130	ENSP00000439263:K130Q	ENSP00000439263:K130Q	K	+	1	0	NMT1	40529090	0.999000	0.42202	0.997000	0.53966	0.331000	0.28603	0.436000	0.21526	-0.041000	0.13558	-0.798000	0.03219	AAA		0.433	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		C	43173564	A	C	43173564	2	2	539	1	0	0	0	0	0	0	0	1	10505	349	13	5		5	NMT1	17	43173564	Silent	SNP	A	TCGA-CJ-5675-01A-11D-1534-10	7878044	43173564	38021646	54	29045											
FBF1	85302	hgsc.bcm.edu;ucsc.edu	37	17	73927360	73927360	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr17:73927360C>A	ENST00000586717.1	-	5	409	c.136G>T	c.(136-138)Ggt>Tgt	p.G46C	FBF1_ENST00000389570.4_Missense_Mutation_p.G46C|FBF1_ENST00000319129.5_Missense_Mutation_p.G46C			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	46					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ACATCATCACCCAGGAGGGAC	0.562																																																0													31	35	33					17																	73927360		2049	4199	6248	SO:0001583	missense	85302			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.136G>T	17.37:g.73927360C>A	ENSP00000465132:p.Gly46Cys		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37		.	.	.	.	.	.	.	.	.	.	C	12.22	1.873822	0.33069	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.17691	2.26;2.26	5.22	3.22	0.36961	.	.	.	.	.	T	0.16811	0.0404	N	0.22421	0.69	0.21499	N	0.999665	P;D;P	0.53312	0.948;0.959;0.948	P;P;P	0.49708	0.517;0.62;0.517	T	0.08229	-1.0732	9	0.72032	D	0.01	-0.2651	8.9855	0.35992	0.0:0.8243:0.0:0.1757	.	60;46;46	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	C	46;46;46;59	ENSP00000374221:G46C;ENSP00000324292:G46C	ENSP00000324292:G46C	G	-	1	0	FBF1	71438955	0.732000	0.28121	0.855000	0.33649	0.046000	0.14306	1.335000	0.33839	0.568000	0.29311	-0.258000	0.10820	GGT		0.562	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		A	73927360	C	A	73927360	3	1	539	1	0	0	0	0	1	0	0	0	5697	623	22	4	3365	4	FBF1	17	73927360	Missense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	30753796	73927360	7267850	55	29046											
CABLES1	91768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	20814600	20814600	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr18:20814600T>C	ENST00000256925.7	+	5	1117	c.1117T>C	c.(1117-1119)Tca>Cca	p.S373P	CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.S108P|CABLES1_ENST00000400473.2_Missense_Mutation_p.S46P|TMEM241_ENST00000450466.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	373	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.S373P(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGAAGACAATCAACTGGTGC	0.502																																																1	Substitution - Missense(1)	kidney(1)											81	84	83					18																	20814600		2005	4199	6204	SO:0001583	missense	91768			BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1117T>C	18.37:g.20814600T>C	ENSP00000256925:p.Ser373Pro		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316898	0.40996	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.43294	0.97;0.95;0.97	5.81	5.81	0.92471	.	0.290166	0.22011	U	0.065876	T	0.21186	0.0510	N	0.02225	-0.63	0.80722	D	1	B;B	0.15930	0.001;0.015	B;B	0.09377	0.004;0.004	T	0.11842	-1.0571	10	0.21540	T	0.41	-22.9988	16.1668	0.81768	0.0:0.0:0.0:1.0	.	108;373	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	P	46;373;108	ENSP00000383321:S46P;ENSP00000256925:S373P;ENSP00000413851:S108P	ENSP00000256925:S373P	S	+	1	0	CABLES1	19068598	1.000000	0.71417	0.922000	0.36590	0.931000	0.56810	2.106000	0.41835	2.210000	0.71456	0.533000	0.62120	TCA		0.502	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		C	20814600	T	C	20814600	3	2	539	1	0	0	0	0	1	0	0	0	2531	1435	50	3	1189	3	CABLES1	18	20814600	Missense_Mutation	SNP	T	TCGA-CJ-5675-01A-11D-1534-10		20814600	57262648	56	29047											
ZNF407	55628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72346773	72346773	+	Silent	SNP	T	T	C			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr18:72346773T>C	ENST00000299687.5	+	1	3798	c.3798T>C	c.(3796-3798)gtT>gtC	p.V1266V	ZNF407_ENST00000577538.1_Silent_p.V1266V|ZNF407_ENST00000309902.6_Silent_p.V1266V|ZNF407_ENST00000582337.1_Silent_p.V1266V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V1266V(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTGTGCTCGTTGTGACAAGAA	0.562																																																2	Substitution - coding silent(2)	kidney(2)											34	38	37					18																	72346773		1940	4141	6081	SO:0001819	synonymous_variant	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3798T>C	18.37:g.72346773T>C			B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																				0.562	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		C	72346773	T	C	72346773	2	2	539	1	0	0	0	0	0	0	0	1	17892	1799	63	3		3	ZNF407	18	72346773	Silent	SNP	T	TCGA-CJ-5675-01A-11D-1534-10	51532173	72346773	5730475	57	29048											
ZNF763	284390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12089265	12089265	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr19:12089265G>A	ENST00000358987.3	+	4	653	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	ZNF763_ENST00000343949.5_Missense_Mutation_p.E179K|ZNF763_ENST00000590798.1_Missense_Mutation_p.E196K|ZNF763_ENST00000538752.1_Missense_Mutation_p.E196K|ZNF763_ENST00000545530.1_Missense_Mutation_p.E54K			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E178K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGCTTGTAAAGAATGTGGAAA	0.418																																																1	Substitution - Missense(1)	kidney(1)											107	112	111					19																	12089265		2201	4300	6501	SO:0001583	missense	284390			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.526G>A	19.37:g.12089265G>A	ENSP00000402017:p.Glu176Lys		B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37		.	.	.	.	.	.	.	.	.	.	g	9.276	1.046958	0.19748	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	1.16	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10337	0.0253	L	0.28504	0.86	0.09310	N	1	B;B;B	0.33583	0.418;0.006;0.004	B;B;B	0.33890	0.172;0.007;0.011	T	0.27872	-1.0061	9	0.52906	T	0.07	.	4.0701	0.09879	0.208:0.2387:0.5533:0.0	.	196;176;179	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	K	196;179;54;176	ENSP00000438117:E196K;ENSP00000369774:E179K;ENSP00000446166:E54K;ENSP00000402017:E176K	ENSP00000369774:E179K	E	+	1	0	ZNF763	11950265	0.000000	0.05858	0.014000	0.15608	0.110000	0.19582	-0.034000	0.12225	-0.340000	0.08388	0.195000	0.17529	GAA		0.418	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		A	12089265	G	A	12089265	3	1	539	1	0	0	0	0	1	0	0	0	18142	943	33	2	549	2	ZNF763	19	12089265	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10		12089265	47039718	58	29049											
CC2D1A	54862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14034594	14034594	+	Missense_Mutation	SNP	G	G	A	rs375346936		TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr19:14034594G>A	ENST00000318003.7	+	17	2151	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R637H	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	637					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)	p.R637H(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCCACCGCCCGCTTTGAGCAA	0.627																																																1	Substitution - Missense(1)	kidney(1)						G	HIS/ARG	0,3988		0,0,1994	58	63	61		1910	2.3	1	19		61	1,8319		0,1,4159	no	missense	CC2D1A	NM_017721.4	29	0,1,6153	AA,AG,GG		0.012,0.0,0.0081	benign	637/952	14034594	1,12307	1994	4160	6154	SO:0001583	missense	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1910G>A	19.37:g.14034594G>A	ENSP00000313601:p.Arg637His		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	2.688	-0.273892	0.05679	0.0	1.2E-4	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.17691	2.26	4.68	2.34	0.29019	.	0.123229	0.56097	D	0.000031	T	0.04907	0.0132	N	0.04297	-0.235	0.34797	D	0.736271	B;B;B	0.19583	0.003;0.023;0.037	B;B;B	0.09377	0.004;0.003;0.003	T	0.33624	-0.9861	10	0.02654	T	1	-11.9526	4.3915	0.11343	0.4929:0.0:0.5071:0.0	.	259;637;637	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	H	637;260	ENSP00000313601:R637H	ENSP00000254346:R260H	R	+	2	0	CC2D1A	13895594	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	1.443000	0.35057	0.955000	0.37878	0.561000	0.74099	CGC		0.627	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		A	14034594	G	A	14034594	3	1	539	1	0	0	0	0	1	0	0	0	2728	1087	38	1	1976	1	CC2D1A	19	14034594	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	1945329	14034594	45094389	59	29050											
FCGBP	8857	broad.mit.edu;hgsc.bcm.edu	37	19	40376809	40376809	+	Silent	SNP	C	C	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr19:40376809C>T	ENST00000221347.6	-	24	11620	c.11613G>A	c.(11611-11613)ggG>ggA	p.G3871G	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3871	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.G3871G(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGACAGTGGCCCTGTGGGGC	0.597																																																1	Substitution - coding silent(1)	kidney(1)											9	14	12					19																	40376809		2101	4122	6223	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11613G>A	19.37:g.40376809C>T			O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		T	40376809	C	T	40376809	2	4	539	1	0	0	0	0	0	0	0	1	5780	726	26	2		2	FCGBP	19	40376809	Silent	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	26342215	40376809	18752174	60	29051											
LILRA6	79168	broad.mit.edu	37	19	54744735	54744735	+	Silent	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr19:54744735G>A	ENST00000396365.2	-	5	966	c.927C>T	c.(925-927)ccC>ccT	p.P309P	LILRA6_ENST00000419410.2_Silent_p.P309P|LILRA6_ENST00000440558.2_Silent_p.P309P|LILRA6_ENST00000245621.5_Silent_p.P309P|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	309	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.P309P(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTCGCTGGGGGCCGACC	0.677																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											31	42	38					19																	54744735		2201	4298	6499	SO:0001819	synonymous_variant	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.927C>T	19.37:g.54744735G>A				Silent	SNP	ENST00000396365.2	37	CCDS42610.1																																																																																				0.677	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		A	54744735	G	A	54744735	2	1	539	1	0	0	0	0	0	0	0	1	8791	1335	47	2		2	LILRA6	19	54744735	Silent	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	14367926	54744735	4384248	61	29052											
ZNF814	730051	broad.mit.edu;hgsc.bcm.edu	37	19	58386268	58386268	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr19:58386268G>T	ENST00000435989.2	-	3	724	c.490C>A	c.(490-492)Cat>Aat	p.H164N	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	164					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H164N(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCTGACACATGCAACTTACAC	0.507																																																1	Substitution - Missense(1)	kidney(1)											134	99	109					19																	58386268		692	1590	2282	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.490C>A	19.37:g.58386268G>T	ENSP00000410545:p.His164Asn		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.158	0.788865	0.16258	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.07800	3.16	2.27	-0.901	0.10540	.	.	.	.	.	T	0.11580	0.0282	M	0.87328	2.875	0.09310	N	1	P	0.36647	0.563	B	0.28305	0.088	T	0.10636	-1.0621	9	0.72032	D	0.01	.	7.5253	0.27652	0.2018:0.0:0.7982:0.0	.	164	B7Z6K7	ZN814_HUMAN	N	164	ENSP00000410545:H164N	ENSP00000365378:H164N	H	-	1	0	ZNF814	63078080	0.826000	0.29277	0.000000	0.03702	0.070000	0.16714	1.395000	0.34520	-0.150000	0.11195	0.195000	0.17529	CAT		0.507	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		T	58386268	G	T	58386268	3	4	539	1	0	0	0	0	1	0	0	0	18181	1319	46	4	2081	4	ZNF814	19	58386268	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	3641533	58386268	742715	62	29053											
ANGPT4	51378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	896633	896633	+	Silent	SNP	G	G	A	rs574115140		TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr20:896633G>A	ENST00000381922.3	-	1	327	c.225C>T	c.(223-225)aaC>aaT	p.N75N	ANGPT4_ENST00000546022.1_Silent_p.N75N	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	75					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.N75N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGTGCAGTGGGTTGGCCAGTG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19665	0.0		0.0	False		,,,				2504	0.0				Pancreas(181;481 2077 3259 31286 49856)											1	Substitution - coding silent(1)	kidney(1)											123	108	113					20																	896633		2203	4300	6503	SO:0001819	synonymous_variant	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.225C>T	20.37:g.896633G>A			B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	CCDS13009.1																																																																																				0.607	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		A	896633	G	A	896633	2	1	539	1	0	0	0	0	0	0	0	1	612	1252	44	2		2	ANGPT4	20	896633	Silent	SNP	G	TCGA-CJ-5675-01A-11D-1534-10		896633	62128887	63	29054											
C20orf194	25943	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3278767	3278767	+	Missense_Mutation	SNP	G	G	C	rs575069868		TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr20:3278767G>C	ENST00000252032.9	-	22	1905	c.1838C>G	c.(1837-1839)cCt>cGt	p.P613R	C20orf194_ENST00000498079.1_5'UTR|C20orf194_ENST00000453730.2_Missense_Mutation_p.P351R	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	613								p.P613R(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGGAGGTGAGGAAGCAATGA	0.428																																																1	Substitution - Missense(1)	kidney(1)											132	126	128					20																	3278767		1979	4176	6155	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1838C>G	20.37:g.3278767G>C	ENSP00000252032:p.Pro613Arg		Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736988	0.69304	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.34667	2.15;1.35	5.65	4.7	0.59300	.	0.055632	0.64402	D	0.000001	T	0.49490	0.1560	L	0.59436	1.845	0.54753	D	0.999985	D;D	0.61080	0.989;0.989	P;P	0.61201	0.885;0.847	T	0.41502	-0.9505	10	0.26408	T	0.33	.	11.9944	0.53194	0.0816:0.0:0.9184:0.0	.	352;613	Q0IIP3;Q5TEA3	.;CT194_HUMAN	R	613;351	ENSP00000252032:P613R;ENSP00000407229:P351R	ENSP00000252032:P613R	P	-	2	0	C20orf194	3226767	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.030000	0.70903	1.528000	0.49103	0.563000	0.77884	CCT		0.428	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		C	3278767	G	C	3278767	3	2	539	1	0	0	0	0	1	0	0	0	2101	1000	35	4	1759	4	C20orf194	20	3278767	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	2382134	3278767	59746753	64	29055											
GGTLC1	92086	broad.mit.edu;hgsc.bcm.edu	37	20	23966339	23966339	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr20:23966339G>A	ENST00000335694.4	-	5	700	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	GGTLC1_ENST00000286890.4_Missense_Mutation_p.P166S|GGTLC1_ENST00000278765.4_Missense_Mutation_p.P166S	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	166					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.P166S(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTGACGTTGGGCAGAAGCTGG	0.617																																																2	Substitution - Missense(2)	kidney(2)											53	58	57					20																	23966339		2203	4296	6499	SO:0001583	missense	92086			AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"Gamma-glutamyltransferases"	16437	protein-coding gene	gene with protein product		612338	"gamma-glutamyltransferase-like activity 4", "gamma-glutamyltransferase-like activity 3"	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.496C>T	20.37:g.23966339G>A	ENSP00000337587:p.Pro166Ser		D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	g	16.99	3.275029	0.59649	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.12984	2.63;2.63;2.63	0.844	0.844	0.18943	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	H	0.94222	3.51	0.43693	D	0.996141	D	0.89917	1.0	D	0.78314	0.991	T	0.36114	-0.9761	10	0.87932	D	0	-25.7784	7.477	0.27382	1.0E-4:0.0:0.9999:0.0	.	166	Q9BX51	GGTL1_HUMAN	S	166	ENSP00000286890:P166S;ENSP00000278765:P166S;ENSP00000337587:P166S	ENSP00000278765:P166S	P	-	1	0	GGTLC1	23914339	1.000000	0.71417	0.361000	0.25849	0.364000	0.29643	4.500000	0.60387	0.088000	0.17205	0.089000	0.15464	CCC		0.617	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		A	23966339	G	A	23966339	3	1	539	1	0	0	0	0	1	0	0	0	6367	1203	42	2	189	2	GGTLC1	20	23966339	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	20687572	23966339	39059181	65	29056											
SNX21	90203	broad.mit.edu	37	20	44463023	44463037	+	In_Frame_Del	DEL	GACGAGGACGACGAG	GACGAGGACGACGAG	-	rs547874769	byFrequency	TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	GACGAGGACGACGAG	GACGAGGACGACGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr20:44463023_44463037delGACGAGGACGACGAG	ENST00000491381.1	+	2	273_287	c.205_219delGACGAGGACGACGAG	c.(205-219)gacgaggacgacgagdel	p.DEDDE74del	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_In_Frame_Del_p.DEDDE74del|SNX21_ENST00000462307.1_In_Frame_Del_p.DEDDE74del|SNX21_ENST00000372542.1_In_Frame_Del_p.DEDDE65del|SNX21_ENST00000372541.1_In_Frame_Del_p.DEDDE65del|TNNC2_ENST00000372557.1_5'Flank			Q969T3	SNX21_HUMAN	sorting nexin family member 21	74					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGCcgaggacgacgaggacgacgaggacgaggacg	0.693																																																0									,,,	30,4214		13,4,2105					,,,	1.3	1			26	50,8182		15,20,4081	no	coding,coding,coding,coding	SNX21	NM_152897.1,NM_033421.2,NM_001042633.1,NM_001042632.1	,,,	28,24,6186	A1A1,A1R,RR		0.6074,0.7069,0.6412	,,,	,,,		80,12396				SO:0001651	inframe_deletion	90203			AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.205_219delGACGAGGACGACGAG	20.37:g.44463023_44463037delGACGAGGACGACGAG	ENSP00000418593:p.Asp74_Glu78del		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	In_Frame_Del	DEL	ENST00000491381.1	37	CCDS13377.1																																																																																				0.693	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		-	44463037	GACGAGGACGACGAG	-	44463023	7	5	539	1	0	1	0	1	0	0	0	0	14899	1058	37	0	211	0	SNX21	20	44463023	In_Frame_Del	DEL	GACGAGGACGACGAG	TCGA-CJ-5675-01A-11D-1534-10	20496684	44463023	18562497	66	29057											
NCOA5	57727	broad.mit.edu;hgsc.bcm.edu	37	20	44692013	44692013	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr20:44692013G>A	ENST00000290231.6	-	7	1300	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T379I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CAGAGAGTCGGTGCTGCTCCT	0.572																																																1	Substitution - Missense(1)	kidney(1)											58	53	55					20																	44692013		2203	4300	6503	SO:0001583	missense	57727				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1136C>T	20.37:g.44692013G>A	ENSP00000290231:p.Thr379Ile		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683113	0.29872	.	.	ENSG00000124160	ENST00000290231	T	0.47177	0.85	5.41	3.39	0.38822	.	0.517851	0.23624	N	0.046201	T	0.31451	0.0797	N	0.19112	0.55	0.30418	N	0.778412	B	0.02656	0.0	B	0.04013	0.001	T	0.29941	-0.9995	10	0.51188	T	0.08	-14.5582	10.5689	0.45188	0.0713:0.2306:0.6982:0.0	.	379	Q9HCD5	NCOA5_HUMAN	I	379	ENSP00000290231:T379I	ENSP00000290231:T379I	T	-	2	0	NCOA5	44125420	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	2.792000	0.47837	1.524000	0.49035	-0.258000	0.10820	ACC		0.572	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		A	44692013	G	A	44692013	3	1	539	1	0	0	0	0	1	0	0	0	10234	1261	44	2	611	2	NCOA5	20	44692013	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	228990	44692013	18333507	67	29058											
ADAMTS5	11096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	28337626	28337626	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chr21:28337626G>A	ENST00000284987.5	-	1	1206	c.1085C>T	c.(1084-1086)gCt>gTt	p.A362V		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	362	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A362V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AAACAGGATAGCTGCATCGTA	0.552																																					Esophageal Squamous(53;683 1080 10100 14424 45938)											1	Substitution - Missense(1)	kidney(1)											144	124	131					21																	28337626		2203	4300	6503	SO:0001583	missense	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1085C>T	21.37:g.28337626G>A	ENSP00000284987:p.Ala362Val		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084995	0.94100	.	.	ENSG00000154736	ENST00000284987	T	0.69040	-0.37	5.1	5.1	0.69264	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.291176	0.31673	N	0.007245	D	0.86037	0.5837	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89008	0.3426	10	0.87932	D	0	.	18.7444	0.91787	0.0:0.0:1.0:0.0	.	362	Q9UNA0	ATS5_HUMAN	V	362	ENSP00000284987:A362V	ENSP00000284987:A362V	A	-	2	0	ADAMTS5	27259497	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.701000	0.84566	2.652000	0.90054	0.655000	0.94253	GCT		0.552	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			A	28337626	G	A	28337626	3	1	539	1	0	0	0	0	1	0	0	0	269	971	34	2	1739	2	ADAMTS5	21	28337626	Missense_Mutation	SNP	G	TCGA-CJ-5675-01A-11D-1534-10		28337626	19792269	68	29059											
PPP2R3B	28227	hgsc.bcm.edu;ucsc.edu	37	X	322172	322172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chrX:322172delC	ENST00000390665.3	-	2	496	c.478delG	c.(478-480)gccfs	p.A160fs		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	160					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCATGGTGGCCCTCTCGTGG	0.647																																																0													157	186	176					X																	322172		2182	4262	6444	SO:0001589	frameshift_variant	28227			AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.478delG	X.37:g.322172delC	ENSP00000375080:p.Ala160fs		Q6P4G9|Q7RTT1|Q96H01	Frame_Shift_Del	DEL	ENST00000390665.3	37	CCDS14104.1																																																																																				0.647	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		-	322172	C	-	322172	7	5	539	1	0	1	0	1	0	0	0	0	12394	739	26	0	1297	0	PPP2R3B	23	322172	Frame_Shift_Del	DEL	C	TCGA-CJ-5675-01A-11D-1534-10		322172	154948388	69	29060											
RAI2	10742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	17819773	17819773	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chrX:17819773C>T	ENST00000545871.1	-	3	818	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	RAI2_ENST00000415486.3_Missense_Mutation_p.V70M|RAI2_ENST00000360011.1_Missense_Mutation_p.V120M|RAI2_ENST00000331511.1_Missense_Mutation_p.V120M|RAI2_ENST00000451717.1_Missense_Mutation_p.V120M	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	120					embryo development (GO:0009790)			p.V120M(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGCAGTTGCACGGGGCCCTGG	0.617																																																1	Substitution - Missense(1)	kidney(1)											58	61	60					X																	17819773		2203	4296	6499	SO:0001583	missense	10742			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.358G>A	X.37:g.17819773C>T	ENSP00000444210:p.Val120Met		B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289640	0.40494	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.84	5.63	3.88	0.44766	.	0.000000	0.64402	D	0.000002	T	0.33760	0.0874	L	0.32530	0.975	0.45439	D	0.998411	P;P	0.48294	0.908;0.796	B;B	0.36959	0.237;0.237	T	0.10917	-1.0609	10	0.62326	D	0.03	-10.2203	11.5497	0.50713	0.0:0.8517:0.0:0.1483	.	70;120	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	M	120;120;120;120;70	ENSP00000333456:V120M;ENSP00000353106:V120M;ENSP00000444210:V120M;ENSP00000401323:V120M;ENSP00000392578:V70M	ENSP00000333456:V120M	V	-	1	0	RAI2	17729694	0.996000	0.38824	0.998000	0.56505	0.964000	0.63967	3.496000	0.53288	0.562000	0.29204	-0.191000	0.12829	GTG		0.617	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		T	17819773	C	T	17819773	3	4	539	1	0	0	0	0	1	0	0	0	13015	536	19	1	1238	1	RAI2	23	17819773	Missense_Mutation	SNP	C	TCGA-CJ-5675-01A-11D-1534-10	17497601	17819773	137450787	70	29061											
ITIH5L	347365	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54785277	54785277	+	Silent	SNP	G	G	A			TCGA-CJ-5675-01A-11D-1534-10	TCGA-CJ-5675-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78b7e188-9252-48b6-9e10-04eb8690b879	bfa15fdf-d1f5-4e0c-986f-c888e0cf77da	g.chrX:54785277G>A	ENST00000218436.6	-	8	1259	c.1230C>T	c.(1228-1230)atC>atT	p.I410I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	410	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.I410I(1)									CATTGGAGAGGATCACACTGG	0.627																																																1	Substitution - coding silent(1)	kidney(1)											70	53	59					X																	54785277		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1230C>T	X.37:g.54785277G>A			A6NN03	Silent	SNP	ENST00000218436.6	37	CCDS14361.1																																																																																				0.627	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		A	54785277	G	A	54785277	2	1	539	1	0	0	0	0	0	0	0	1	7910	1164	41	2		2	ITIH5L	23	54785277	Silent	SNP	G	TCGA-CJ-5675-01A-11D-1534-10	36965504	54785277	100485283	71	29062											
VHL	7428	hgsc.bcm.edu	37	3	10183864	10183864	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5675-01A-11W-1584-10	TCGA-CJ-5675-11A-01W-1585-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	6b33ad1e-6eed-4a96-b8e3-360f12c58ea7	c5a65315-0c2c-46a1-b8b9-ea114ce12fec	g.chr3:10183864C>A	ENST00000256474.2	+	1	1173	c.333C>A	c.(331-333)agC>agA	p.S111R	VHL_ENST00000345392.2_Missense_Mutation_p.S111R|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	111	Involved in binding to CCT complex.		S -> C (in VHLD; type II).|S -> N (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S111R(3)|p.S111S(2)|p.?(1)|p.I109_R113del(1)|p.S111fs*45(1)|p.H110_S111del(1)|p.S111_Y112del(1)|p.Y112fs*47(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCATCCACAGCTACCGAGGTA	0.692		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Substitution - Missense(3)|Deletion - In frame(3)|Deletion - Frameshift(2)|Substitution - coding silent(2)|Unknown(1)	kidney(11)	GRCh37	CM951281	VHL	M							10	11	11					3																	10183864		1807	3766	5573	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.333C>A	3.37:g.10183864C>A	ENSP00000256474:p.Ser111Arg		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980286	0.92982	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99773	-6.72;-6.72	5.17	4.3	0.51218	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.096185	0.64402	D	0.000001	D	0.99510	0.9825	L	0.46157	1.445	0.25288	N	0.989387	D;D	0.89917	0.991;1.0	P;D	0.85130	0.858;0.997	D	0.98010	1.0365	10	0.87932	D	0	-5.879	11.6184	0.51102	0.0:0.9134:0.0:0.0866	.	111;111	P40337-2;P40337	.;VHL_HUMAN	R	111;111;29	ENSP00000256474:S111R;ENSP00000344757:S111R	ENSP00000256474:S111R	S	+	3	2	VHL	10158864	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.672000	0.37523	1.199000	0.43173	0.479000	0.44913	AGC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183864	C	A	10183864	3	1	540	1	0	0	0	0	1	0	0	0	17167	796	28	4	335	4	VHL	3	10183864	Missense_Mutation	SNP	C	TCGA-CJ-5675-01A-11W-1584-10		10183864	187838566	1	29063											
CLCN6	1185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11894362	11894362	+	Silent	SNP	G	G	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr1:11894362G>T	ENST00000346436.6	+	16	1648	c.1596G>T	c.(1594-1596)ggG>ggT	p.G532G	CLCN6_ENST00000376487.3_Silent_p.G510G|CLCN6_ENST00000376496.3_Silent_p.G532G|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	532					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.G532G(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGGGCGGGGTGGTCCGCA	0.552																																																1	Substitution - coding silent(1)	kidney(1)											106	96	99					1																	11894362		2203	4300	6503	SO:0001819	synonymous_variant	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1596G>T	1.37:g.11894362G>T			A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	CCDS138.1																																																																																				0.552	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		T	11894362	G	T	11894362	2	4	541	1	0	0	0	0	0	0	0	1	3469	1219	43	4		4	CLCN6	1	11894362	Silent	SNP	G	TCGA-CJ-5676-01A-11D-1534-10		11894362	237356259	1	29064											
C1orf94	84970	broad.mit.edu;ucsc.edu	37	1	34677961	34677961	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr1:34677961C>G	ENST00000488417.1	+	6	1795	c.1675C>G	c.(1675-1677)Cta>Gta	p.L559V	C1orf94_ENST00000373374.3_Missense_Mutation_p.L369V	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	559								p.L559V(1)|p.L369V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGACCCTCCCCTAATGGCAGG	0.567																																																2	Substitution - Missense(2)	kidney(2)											90	80	83					1																	34677961		2203	4300	6503	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1675C>G	1.37:g.34677961C>G	ENSP00000435634:p.Leu559Val		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	c	10.53	1.375485	0.24857	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.22336	1.97;1.96	5.18	4.25	0.50352	.	0.000000	0.64402	D	0.000011	T	0.11537	0.0281	N	0.08118	0	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.20840	-1.0263	10	0.66056	D	0.02	-35.54	11.0251	0.47741	0.1865:0.8135:0.0:0.0	.	559	Q6P1W5	CA094_HUMAN	V	369;559	ENSP00000362472:L369V;ENSP00000435634:L559V	ENSP00000362472:L369V	L	+	1	2	C1orf94	34450548	1.000000	0.71417	0.989000	0.46669	0.460000	0.32559	2.872000	0.48467	1.161000	0.42604	-0.187000	0.12897	CTA		0.567	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		G	34677961	C	G	34677961	3	3	541	1	0	0	0	0	1	0	0	0	2073	680	24	4	1697	4	C1orf94	1	34677961	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	22783599	34677961	214572660	2	29065											
FAF1	11124	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	50956260	50956260	+	Splice_Site	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr1:50956260C>T	ENST00000396153.2	-	17	2104	c.1653G>A	c.(1651-1653)gaG>gaA	p.E551E	FAF1_ENST00000545823.1_Splice_Site_p.E309E|FAF1_ENST00000371778.4_Splice_Site_p.E551E	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	551					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.E551E(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TATGCCCCACCTCACGTTCCT	0.418																																																1	Substitution - coding silent(1)	kidney(1)											226	195	206					1																	50956260		2203	4300	6503	SO:0001630	splice_region_variant	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1653+1G>A	1.37:g.50956260C>T			Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Silent	SNP	ENST00000396153.2	37	CCDS554.1																																																																																				0.418	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051	Silent	T	50956260	C	T	50956260	5	4	541	1	0	0	0	0	0	0	1	0	5371	695	24	2	311	2	FAF1	1	50956260	Splice_Site	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	16278299	50956260	198294361	3	29066											
SLC44A3	126969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	95360437	95360437	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr1:95360437A>G	ENST00000271227.6	+	15	2023	c.1921A>G	c.(1921-1923)Agg>Ggg	p.R641G	SLC44A3_ENST00000532427.1_Missense_Mutation_p.R561G|SLC44A3_ENST00000529450.1_Missense_Mutation_p.R608G|SLC44A3_ENST00000467909.1_Missense_Mutation_p.R593G|SLC44A3_ENST00000446120.2_Missense_Mutation_p.R605G|SLC44A3_ENST00000527077.1_Missense_Mutation_p.R573G	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	641					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R641G(1)|p.R593G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCACTCATTAAGGAATGAGGA	0.378																																																2	Substitution - Missense(2)	kidney(2)											97	87	91					1																	95360437		2203	4300	6503	SO:0001583	missense	126969			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1921A>G	1.37:g.95360437A>G	ENSP00000271227:p.Arg641Gly		B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.398131	0.25205	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427;ENST00000532670	T;T;T;T;T;T	0.18338	2.7;2.9;2.22;2.22;2.7;2.22	5.91	0.871	0.19107	.	1.722310	0.02788	N	0.121755	T	0.02267	0.0070	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.002;0.0;0.0;0.0	T	0.35425	-0.9789	10	0.18276	T	0.48	-0.1043	1.3307	0.02134	0.4989:0.1459:0.2226:0.1326	.	561;605;573;608;641	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	G	605;641;573;608;593;561;97	ENSP00000389143:R605G;ENSP00000271227:R641G;ENSP00000433641:R573G;ENSP00000431836:R608G;ENSP00000432789:R593G;ENSP00000436661:R561G	ENSP00000271227:R641G	R	+	1	2	SLC44A3	95133025	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	0.171000	0.16685	0.137000	0.18759	0.454000	0.30748	AGG		0.378	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		G	95360437	A	G	95360437	3	3	541	1	0	0	0	0	1	0	0	0	14643	63	3	3	1979	3	SLC44A3	1	95360437	Missense_Mutation	SNP	A	TCGA-CJ-5676-01A-11D-1534-10	44404177	95360437	153890184	4	29067											
AMY2B	280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	104116348	104116348	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr1:104116348G>A	ENST00000361355.4	+	6	1148	c.532G>A	c.(532-534)Gtt>Att	p.V178I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	178					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.V178I(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGTCGTCTGGTTGGTCTTCT	0.363																																																1	Substitution - Missense(1)	kidney(1)											379	365	370					1																	104116348		2203	4300	6503	SO:0001583	missense	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.532G>A	1.37:g.104116348G>A	ENSP00000354610:p.Val178Ile		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420169	0.42918	.	.	ENSG00000240038	ENST00000361355	D	0.98345	-4.88	4.74	-1.31	0.09230	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.892392	0.09555	N	0.786356	D	0.96228	0.8770	M	0.90870	3.155	0.27177	N	0.960776	B	0.30973	0.302	B	0.39339	0.297	D	0.92533	0.6035	10	0.87932	D	0	.	1.4058	0.02280	0.1999:0.1088:0.2798:0.4115	.	178	P19961	AMY2B_HUMAN	I	178	ENSP00000354610:V178I	ENSP00000354610:V178I	V	+	1	0	AMY2B	103917871	0.022000	0.18835	0.147000	0.22382	0.987000	0.75469	0.309000	0.19332	-0.233000	0.09797	-0.208000	0.12717	GTT		0.363	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		A	104116348	G	A	104116348	3	1	541	1	0	0	0	0	1	0	0	0	595	1261	44	2	546	2	AMY2B	1	104116348	Missense_Mutation	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	8755911	104116348	145134273	5	29068											
SLC16A1	6566	hgsc.bcm.edu;ucsc.edu	37	1	113460278	113460279	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr1:113460278_113460279insT	ENST00000538576.1	-	4	1580_1581	c.749_750insA	c.(748-750)aatfs	p.N250fs	SLC16A1_ENST00000433570.4_Frame_Shift_Ins_p.N250fs|SLC16A1_ENST00000369626.3_Frame_Shift_Ins_p.N250fs	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	250					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	CCAGGAACTGATTAATTGTTTG	0.396																																																0																																										SO:0001589	frameshift_variant	6566			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.750dupA	1.37:g.113460280_113460280dupT	ENSP00000441065:p.Asn250fs		Q49A45|Q5T8R6|Q9NSJ9	Frame_Shift_Ins	INS	ENST00000538576.1	37	CCDS858.1																																																																																				0.396	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		T	113460279	-	T	113460278	7	5	541	1	0	1	1	0	0	0	0	0	14408	330	12	0	760	0	SLC16A1	1	113460278	Frame_Shift_Ins	INS	-	TCGA-CJ-5676-01A-11D-1534-10	9343930	113460278	135790343	6	29069											
HMGCS2	3158	broad.mit.edu;ucsc.edu	37	1	120307055	120307055	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr1:120307055T>A	ENST00000369406.3	-	2	348	c.299A>T	c.(298-300)gAg>gTg	p.E100V	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.E100V	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	100					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.E100V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GTTGATGTCCTCTTGGACTGA	0.552																																																1	Substitution - Missense(1)	kidney(1)											157	141	147					1																	120307055		2203	4300	6503	SO:0001583	missense	3158			BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.299A>T	1.37:g.120307055T>A	ENSP00000358414:p.Glu100Val		B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	CCDS905.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485875	0.84854	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.91843	-2.92;-2.62	5.22	5.22	0.72569	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000007	D	0.97732	0.9256	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99174	1.0865	10	0.87932	D	0	-0.2132	14.232	0.65898	0.0:0.0:0.0:1.0	.	100;100	B7Z8R3;P54868	.;HMCS2_HUMAN	V	100	ENSP00000358414:E100V;ENSP00000439495:E100V	ENSP00000358414:E100V	E	-	2	0	HMGCS2	120108578	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.541000	0.82084	2.097000	0.63578	0.477000	0.44152	GAG		0.552	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		A	120307055	T	A	120307055	3	1	541	1	0	0	0	0	1	0	0	0	7235	1551	54	5	1259	5	HMGCS2	1	120307055	Missense_Mutation	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	6846777	120307055	128943566	7	29070											
FCGR3B	2214	broad.mit.edu;hgsc.bcm.edu	37	1	161599827	161599827	+	Intron	SNP	T	T	G			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr1:161599827T>G	ENST00000540048.1	-	2	94				FCGR3B_ENST00000531221.1_Splice_Site|FCGR3B_ENST00000367964.2_Splice_Site|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000294800.3_Splice_Site|FCGR2B_ENST00000367962.4_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGATCTTCTGAGGAGCCAA	0.557																																																1	Unknown(1)	kidney(1)											22	26	25					1																	161599827		2092	4254	6346	SO:0001627	intron_variant	2215			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+330A>C	1.37:g.161599827T>G			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Splice_Site	SNP	ENST00000540048.1	37		.	.	.	.	.	.	.	.	.	.	T	9.433	1.086123	0.20390	.	.	ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776	.	.	.	2.79	0.322	0.15888	.	.	.	.	.	.	.	.	.	.	.	0.21020	N	0.99981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6939	0.12793	0.0:0.31:0.0:0.69	.	.	.	.	.	-1	.	.	.	-	.	.	FCGR3B	159866451	0.227000	0.23707	0.019000	0.16419	0.484000	0.33280	2.079000	0.41577	-0.049000	0.13379	0.319000	0.21371	.		0.557	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		G	161599827	T	G	161599827	1	3	541	0	1	0	0	0	0	0	0	0	5787	1594	55	5		5	FCGR3B	1	161599827	Intron	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	41292772	161599827	87650794	8	29071											
RCSD1	92241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	167663406	167663406	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr1:167663406T>A	ENST00000367854.3	+	5	672	c.341T>A	c.(340-342)aTg>aAg	p.M114K	RCSD1_ENST00000537350.1_Missense_Mutation_p.M84K	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	114					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)	p.M114K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCAAGGCTATGGTGTCGCCA	0.557																																																1	Substitution - Missense(1)	kidney(1)											87	81	83					1																	167663406		2203	4300	6503	SO:0001583	missense	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.341T>A	1.37:g.167663406T>A	ENSP00000356828:p.Met114Lys		B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502927	0.44558	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.46063	0.88;0.89	5.18	-0.797	0.10909	.	0.942290	0.08958	N	0.869078	T	0.14830	0.0358	L	0.34521	1.04	0.34273	D	0.681205	P;P	0.34462	0.454;0.454	B;B	0.29663	0.105;0.045	T	0.08764	-1.0706	9	0.59425	D	0.04	-0.3862	12.5252	0.56083	0.0:0.0987:0.0:0.9013	.	84;114	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	K	114;90;84	ENSP00000356828:M114K;ENSP00000439409:M84K	ENSP00000355291:M90K	M	+	2	0	RCSD1	165930030	0.317000	0.24589	0.095000	0.20976	0.959000	0.62525	0.477000	0.22196	-0.232000	0.09811	0.533000	0.62120	ATG		0.557	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		A	167663406	T	A	167663406	3	1	541	1	0	0	0	0	1	0	0	0	13191	1464	51	5	359	5	RCSD1	1	167663406	Missense_Mutation	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	6063579	167663406	81587215	9	29072											
TPR	7175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186310211	186310211	+	Silent	SNP	T	T	G	rs376859703		TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr1:186310211T>G	ENST00000367478.4	-	29	4265	c.3969A>C	c.(3967-3969)gcA>gcC	p.A1323A		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1323					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.A1324A(1)|p.A1323A(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCTTCTTCTCTGCCTGCAACA	0.393			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - coding silent(2)	kidney(2)											180	164	169					1																	186310211		1931	4151	6082	SO:0001819	synonymous_variant	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3969A>C	1.37:g.186310211T>G			Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	CCDS41446.1																																																																																				0.393	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		G	186310211	T	G	186310211	2	3	541	1	0	0	0	0	0	0	0	1	16421	1567	55	5		5	TPR	1	186310211	Silent	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	18646805	186310211	62940410	10	29073											
GREB1	9687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11706655	11706655	+	Silent	SNP	G	G	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr2:11706655G>A	ENST00000381486.2	+	4	627	c.327G>A	c.(325-327)gaG>gaA	p.E109E	GREB1_ENST00000234142.5_Silent_p.E109E|GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000381483.2_Silent_p.E109E|GREB1_ENST00000263834.5_Silent_p.E109E	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	109						integral component of membrane (GO:0016021)		p.E109E(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTTCCAACGAGCCCATGGATG	0.637																																					Ovarian(39;850 945 2785 23371 33093)											3	Substitution - coding silent(3)	kidney(3)											80	76	77					2																	11706655		2203	4300	6503	SO:0001819	synonymous_variant	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.327G>A	2.37:g.11706655G>A			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	CCDS42655.1																																																																																				0.637	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11706655	G	A	11706655	2	1	541	1	0	0	0	0	0	0	0	1	6762	962	34	2		2	GREB1	2	11706655	Silent	SNP	G	TCGA-CJ-5676-01A-11D-1534-10		11706655	231492718	11	29074											
SDC1	6382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	20403727	20403727	+	Silent	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr2:20403727C>T	ENST00000254351.4	-	3	718	c.474G>A	c.(472-474)caG>caA	p.Q158Q	SDC1_ENST00000381150.1_Silent_p.Q158Q|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000403076.1_Silent_p.Q158Q	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	158					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.Q158Q(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGTGGCCAGGCTGCATGTCCC	0.657																																																1	Substitution - coding silent(1)	kidney(1)											100	96	97					2																	20403727		2203	4300	6503	SO:0001819	synonymous_variant	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.474G>A	2.37:g.20403727C>T			D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	CCDS1697.1																																																																																				0.657	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		T	20403727	C	T	20403727	2	4	541	1	0	0	0	0	0	0	0	1	13957	796	28	2		2	SDC1	2	20403727	Silent	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	8697072	20403727	222795646	12	29075											
UGGT1	56886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128928844	128928844	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr2:128928844C>A	ENST00000259253.6	+	28	3137	c.3090C>A	c.(3088-3090)gaC>gaA	p.D1030E	UGGT1_ENST00000375990.3_Missense_Mutation_p.D1006E	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1030					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.D1030E(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AACTTTCTGACATGCCTTTAA	0.338																																																1	Substitution - Missense(1)	kidney(1)											86	84	85					2																	128928844		2203	4300	6503	SO:0001583	missense	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3090C>A	2.37:g.128928844C>A	ENSP00000259253:p.Asp1030Glu		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	3.421	-0.118081	0.06838	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.25579	1.79;1.79	5.53	3.71	0.42584	.	0.096661	0.64402	D	0.000001	T	0.05593	0.0147	N	0.00313	-1.665	0.39371	D	0.966088	B;B	0.02656	0.0;0.0	B;B	0.11329	0.002;0.006	T	0.17379	-1.0371	9	.	.	.	.	7.4148	0.27038	0.0:0.6143:0.2392:0.1465	.	1006;1030	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	E	1006;1030	ENSP00000365158:D1006E;ENSP00000259253:D1030E	.	D	+	3	2	UGGT1	128645314	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	0.734000	0.26101	1.347000	0.45714	-0.145000	0.13849	GAC		0.338	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		A	128928844	C	A	128928844	3	1	541	1	0	0	0	0	1	0	0	0	16946	477	17	4	3200	4	UGGT1	2	128928844	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	108525117	128928844	114270529	13	29076											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191488	10191488	+	Nonsense_Mutation	SNP	C	C	T	rs5030818		TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr3:10191488C>T	ENST00000256474.2	+	3	1321	c.481C>T	c.(481-483)Cga>Tga	p.R161*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.R120*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	161	Interaction with Elongin BC complex.		R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040}.|R -> Q (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R161*(13)|p.E160fs*9(2)|p.R161del(1)|p.R161fs*13(1)|p.?fs(1)|p.L158fs*6(1)|p.E160fs*13(1)|p.R161fs*9(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCTGAAAGAGCGATGCCTCCA	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	21	Substitution - Nonsense(13)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Deletion - In frame(1)	kidney(17)|soft_tissue(2)|paratesticular_tissues(1)|pancreas(1)	GRCh37	CM941381|CM961432	VHL	M	rs5030818						91	83	86					3																	10191488		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.481C>T	3.37:g.10191488C>T	ENSP00000256474:p.Arg161*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829386	0.71258	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.86	2.94	0.34122	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8766	11.9485	0.52942	0.3106:0.6894:0.0:0.0	rs5030818	.	.	.	X	161;120;79	.	ENSP00000256474:R161X	R	+	1	2	VHL	10166488	0.997000	0.39634	0.933000	0.37362	0.704000	0.40688	1.161000	0.31773	1.416000	0.47057	-0.122000	0.15005	CGA		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191488	C	T	10191488	4	4	541	1	0	0	0	0	0	1	0	0	17167	760	27	1	491	1	VHL	3	10191488	Nonsense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10		10191488	187830942	14	29077											
ULK4	54986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	41504634	41504634	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr3:41504634C>G	ENST00000301831.4	-	33	3799	c.3337G>C	c.(3337-3339)Gat>Cat	p.D1113H		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1113					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D1113H(1)|p.D265H(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGCAAAATATCAAGCAGGGAA	0.473																																																2	Substitution - Missense(2)	kidney(2)											171	163	166					3																	41504634		2000	4183	6183	SO:0001583	missense	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3337G>C	3.37:g.41504634C>G	ENSP00000301831:p.Asp1113His		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660618	0.47572	.	.	ENSG00000168038	ENST00000301831	T	0.66638	-0.22	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.120003	0.30879	U	0.008690	T	0.74298	0.3698	L	0.50333	1.59	0.80722	D	1	D	0.64830	0.994	P	0.56700	0.804	T	0.78321	-0.2249	10	0.87932	D	0	.	17.7419	0.88409	0.0:1.0:0.0:0.0	.	1113	Q96C45	ULK4_HUMAN	H	1113	ENSP00000301831:D1113H	ENSP00000301831:D1113H	D	-	1	0	ULK4	41479638	0.999000	0.42202	0.037000	0.18230	0.221000	0.24807	5.658000	0.68003	2.187000	0.69744	0.491000	0.48974	GAT		0.473	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		G	41504634	C	G	41504634	3	3	541	1	0	0	0	0	1	0	0	0	16983	826	29	4	510	4	ULK4	3	41504634	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	31313146	41504634	156517796	15	29078											
SETD2	29072	broad.mit.edu;ucsc.edu	37	3	47127736	47127736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr3:47127736C>T	ENST00000409792.3	-	11	5388	c.5346G>A	c.(5344-5346)tgG>tgA	p.W1782*	SETD2_ENST00000492397.1_5'Flank|snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1782					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.W1279*(1)|p.W1782*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCTCTGCCATCCAGATCCACA	0.478			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											139	121	127					3																	47127736		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5346G>A	3.37:g.47127736C>T	ENSP00000386759:p.Trp1782*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	45	11.399636	0.99556	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3513	0.94387	0.0:1.0:0.0:0.0	.	.	.	.	X	1782	.	ENSP00000386759:W1782X	W	-	3	0	SETD2	47102740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.523000	0.53488	2.571000	0.86741	0.650000	0.86243	TGG		0.478	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47127736	C	T	47127736	4	4	541	1	0	0	0	0	0	1	0	0	14137	856	30	2	2392	2	SETD2	3	47127736	Nonsense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	5623102	47127736	150894694	16	29079											
CCDC72	51372	hgsc.bcm.edu	37	3	48485282	48485282	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr3:48485282delA	ENST00000438607.2	+	4	227	c.187delA	c.(187-189)aaafs	p.K64fs	RP11-24C3.2_ENST00000435578.1_RNA|RP11-24C3.2_ENST00000438872.1_RNA|ATRIP_ENST00000357105.6_5'Flank|ATRIP_ENST00000320211.3_5'Flank|ATRIP_ENST00000346691.4_5'Flank	NM_015933.3	NP_057017.1	Q9Y2S6	TMA7_HUMAN	translation machinery associated 7 homolog (S. cerevisiae)	64										lung(1)	1						GAAATCTGGCAAAAAGTAAGC	0.418																																																0													79	76	77					3																	48485282		1828	4078	5906	SO:0001589	frameshift_variant	0			AF077202	CCDS46823.1	3p21.31	2013-02-22	2013-02-22	2012-06-07	ENSG00000232112	ENSG00000232112			26932	protein-coding gene	gene with protein product		615808	"coiled-coil domain containing 72"	CCDC72		11042152, 15740594	Standard	NM_015933		Approved	HSPC016	uc003cte.1	Q9Y2S6	OTTHUMG00000156588	ENST00000438607.2:c.187delA	3.37:g.48485282delA	ENSP00000397843:p.Lys64fs		Q9P052	Frame_Shift_Del	DEL	ENST00000438607.2	37	CCDS46823.1																																																																																				0.418	TMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344688.1	NM_015933		-	48485282	A	-	48485282	7	5	541	1	0	1	0	1	0	0	0	0	2847	131	5	0	201	0	CCDC72	3	48485282	Frame_Shift_Del	DEL	A	TCGA-CJ-5676-01A-11D-1534-10	1357546	48485282	149537148	17	29080											
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52597493	52597493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr3:52597493G>A	ENST00000296302.7	-	24	3893	c.3892C>T	c.(3892-3894)Cag>Tag	p.Q1298*	SMIM4_ENST00000476842.1_Intron|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q1266*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q1298*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q1313*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q1298*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q1273*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q1313*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q1273*			Q86U86	PB1_HUMAN	polybromo 1	1298					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q1298*(5)|p.Q1266*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCTCCTTCTGAGGAACAATT	0.408			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											101	94	96					3																	52597493		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3892C>T	3.37:g.52597493G>A	ENSP00000296302:p.Gln1298*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	42	9.755557	0.99256	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-10.7303	17.9915	0.89170	0.0:0.0:1.0:0.0	.	.	.	.	X	1266;1273;1298;1298;1298;1273;1313;1313;1297	.	ENSP00000296302:Q1298X	Q	-	1	0	PBRM1	52572533	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.818000	0.86416	2.746000	0.94184	0.561000	0.74099	CAG		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52597493	G	A	52597493	4	1	541	1	0	0	0	0	0	1	0	0	11493	1299	45	2	1036	2	PBRM1	3	52597493	Nonsense_Mutation	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	4112211	52597493	145424937	18	29081											
TNIK	23043	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170802027	170802027	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr3:170802027T>A	ENST00000436636.2	-	26	3430	c.3086A>T	c.(3085-3087)aAc>aTc	p.N1029I	TNIK_ENST00000369326.5_Missense_Mutation_p.N1007I|TNIK_ENST00000475336.1_Missense_Mutation_p.N937I|TNIK_ENST00000460047.1_Missense_Mutation_p.N966I|TNIK_ENST00000488470.1_Missense_Mutation_p.N974I|TNIK_ENST00000284483.8_Missense_Mutation_p.N1021I|TNIK_ENST00000357327.5_Missense_Mutation_p.N1000I|TNIK_ENST00000470834.1_Missense_Mutation_p.N992I|TNIK_ENST00000341852.6_Missense_Mutation_p.N945I|TNIK_ENST00000538048.1_Missense_Mutation_p.N981I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1029	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.N1029I(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGGCCGAATGTTGGTTGGGTT	0.408																																																2	Substitution - Missense(2)	kidney(2)											133	128	129					3																	170802027		1860	4104	5964	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3086A>T	3.37:g.170802027T>A	ENSP00000399511:p.Asn1029Ile		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358171	0.82243	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.75589	-0.94;-0.92;-0.94;-0.94;-0.94;-0.94;-0.94;-0.95;-0.95;-0.94	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.86715	0.5999	M	0.81802	2.56	0.80722	D	1	D;P;D;D;D;P;D;D	0.76494	0.997;0.851;0.997;0.997;0.998;0.851;0.997;0.999	D;B;D;D;D;B;D;D	0.80764	0.994;0.355;0.994;0.994;0.974;0.355;0.994;0.943	D	0.88518	0.3094	10	0.87932	D	0	.	16.16	0.81698	0.0:0.0:0.0:1.0	.	937;992;966;945;1021;1000;974;1029	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	I	1029;1007;981;945;1021;937;1000;966;974;992	ENSP00000399511:N1029I;ENSP00000358332:N1007I;ENSP00000443278:N981I;ENSP00000345352:N945I;ENSP00000284483:N1021I;ENSP00000418156:N937I;ENSP00000349880:N1000I;ENSP00000418916:N966I;ENSP00000418378:N974I;ENSP00000419990:N992I	ENSP00000284483:N1021I	N	-	2	0	TNIK	172284721	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.651000	0.83577	2.266000	0.75297	0.528000	0.53228	AAC		0.408	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		A	170802027	T	A	170802027	3	1	541	1	0	0	0	0	1	0	0	0	16318	1725	60	5	1028	5	TNIK	3	170802027	Missense_Mutation	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	118204534	170802027	27220403	19	29082											
LPHN3	23284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	62800598	62800598	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr4:62800598C>A	ENST00000514591.1	+	13	2278	c.1949C>A	c.(1948-1950)gCt>gAt	p.A650D	LPHN3_ENST00000545650.1_Missense_Mutation_p.A650D|LPHN3_ENST00000508946.1_Missense_Mutation_p.A650D|LPHN3_ENST00000508693.1_Missense_Mutation_p.A718D|LPHN3_ENST00000514157.1_Missense_Mutation_p.A650D|LPHN3_ENST00000507164.1_Missense_Mutation_p.A718D|LPHN3_ENST00000506700.1_Missense_Mutation_p.A650D|LPHN3_ENST00000512091.2_Missense_Mutation_p.A650D|LPHN3_ENST00000507625.1_Missense_Mutation_p.A718D|LPHN3_ENST00000511324.1_Missense_Mutation_p.A718D|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Missense_Mutation_p.A650D|LPHN3_ENST00000506720.1_Missense_Mutation_p.A718D|LPHN3_ENST00000506746.1_Missense_Mutation_p.A718D|LPHN3_ENST00000514996.1_Missense_Mutation_p.A650D|LPHN3_ENST00000509896.1_Missense_Mutation_p.A718D			Q9HAR2	LPHN3_HUMAN	latrophilin 3	637					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.A650D(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAGCCACAAGCTTTGAATGCA	0.478																																																3	Substitution - Missense(3)	kidney(3)											84	86	86					4																	62800598		2046	4215	6261	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1949C>A	4.37:g.62800598C>A	ENSP00000422533:p.Ala650Asp		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.445199|3.445199	0.63178|0.63178	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.11169|.	2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Domain of unknown function DUF3497 (1);|.	0.109679|.	0.64402|.	D|.	0.000008|.	T|T	0.73024|0.73024	0.3534|0.3534	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	B;B;B|.	0.18166|.	0.026;0.026;0.021|.	B;B;B|.	0.19946|.	0.027;0.027;0.016|.	T|T	0.69198|0.69198	-0.5208|-0.5208	10|5	0.62326|.	D|.	0.03|.	.|.	19.4372|19.4372	0.94801|0.94801	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	650;637;650|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	D|R	650;650;718;718;650;637;650;637;650;718;718;718;650;650;650;718;718;650|107	ENSP00000423388:A650D;ENSP00000422533:A650D;ENSP00000423787:A718D;ENSP00000425033:A718D;ENSP00000424120:A650D;ENSP00000439831:A650D;ENSP00000421476:A718D;ENSP00000424030:A718D;ENSP00000421372:A718D;ENSP00000425201:A650D;ENSP00000423434:A650D;ENSP00000421627:A650D;ENSP00000420931:A718D;ENSP00000425884:A718D;ENSP00000424258:A650D|.	ENSP00000280009:A650D|.	A|S	+|+	2|3	0|2	LPHN3|LPHN3	62483193|62483193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.651000|7.651000	0.83577|0.83577	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.478	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			A	62800598	C	A	62800598	3	1	541	1	0	0	0	0	1	0	0	0	8919	797	28	4	1991	4	LPHN3	4	62800598	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10		62800598	128353678	20	29083											
WDFY3	23001	hgsc.bcm.edu;ucsc.edu	37	4	85611661	85611662	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr4:85611661_85611662insT	ENST00000295888.4	-	61	9767_9768	c.9360_9361insA	c.(9358-9363)aaacagfs	p.Q3121fs	WDFY3_ENST00000322366.6_Frame_Shift_Ins_p.Q3104fs|RN7SL552P_ENST00000462094.2_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3121	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTCTTACCTGTTTGAGGGTGA	0.5																																																0																																										SO:0001589	frameshift_variant	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9361dupA	4.37:g.85611664_85611664dupT	ENSP00000295888:p.Gln3121fs		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Ins	INS	ENST00000295888.4	37	CCDS3609.1																																																																																				0.5	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		T	85611662	-	T	85611661	7	5	541	1	0	1	1	0	0	0	0	0	17275	1386	48	0	1251	0	WDFY3	4	85611661	Frame_Shift_Ins	INS	-	TCGA-CJ-5676-01A-11D-1534-10	22811063	85611661	105542615	21	29084											
CLGN	1047	broad.mit.edu;hgsc.bcm.edu	37	4	141321553	141321553	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr4:141321553T>C	ENST00000325617.5	-	7	1092	c.652A>G	c.(652-654)Aaa>Gaa	p.K218E	CLGN_ENST00000537281.1_Missense_Mutation_p.K218E|CLGN_ENST00000414773.1_Missense_Mutation_p.K218E	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	218					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.K218E(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AAGAACTTTTTAAGGTCTACA	0.328																																																1	Substitution - Missense(1)	kidney(1)											129	134	132					4																	141321553		2203	4300	6503	SO:0001583	missense	1047			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.652A>G	4.37:g.141321553T>C	ENSP00000326699:p.Lys218Glu		B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973171	0.53614	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.52526	0.66;0.66;0.66	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.082252	0.85682	D	0.000000	T	0.54208	0.1844	L	0.39245	1.2	0.50039	D	0.99984	D	0.64830	0.994	D	0.63703	0.917	T	0.46148	-0.9212	10	0.07175	T	0.84	-31.1458	16.1277	0.81406	0.0:0.0:0.0:1.0	.	218	O14967	CLGN_HUMAN	E	218;218;218;135	ENSP00000326699:K218E;ENSP00000392782:K218E;ENSP00000439381:K218E	ENSP00000326699:K218E	K	-	1	0	CLGN	141541003	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.252000	0.72447	2.273000	0.75805	0.482000	0.46254	AAA		0.328	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		C	141321553	T	C	141321553	3	2	541	1	0	0	0	0	1	0	0	0	3526	1763	61	3	1216	3	CLGN	4	141321553	Missense_Mutation	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	55709892	141321553	49832723	22	29085											
MYO10	4651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	16818168	16818168	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr5:16818168C>T	ENST00000513610.1	-	3	683	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	MYO10_ENST00000507288.1_Missense_Mutation_p.G77S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	77	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.G77S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATGATGGAGCCGCCATGGAGC	0.448																																																1	Substitution - Missense(1)	kidney(1)											56	57	57					5																	16818168		1948	4135	6083	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.229G>A	5.37:g.16818168C>T	ENSP00000421280:p.Gly77Ser		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814492	0.90790	.	.	ENSG00000145555	ENST00000513610;ENST00000513882;ENST00000502436;ENST00000507288	T;T;T;D	0.95035	-0.52;-0.52;-0.52;-3.59	6.08	6.08	0.98989	Myosin head, motor domain (2);	.	.	.	.	D	0.94909	0.8354	L	0.44542	1.39	0.80722	D	1	D;P;D	0.58970	0.971;0.918;0.984	P;P;P	0.52424	0.453;0.653;0.698	D	0.94757	0.7932	9	0.72032	D	0.01	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	77;44;77	Q8IVX5;E9PCN3;Q9HD67	.;.;MYO10_HUMAN	S	77;88;44;77	ENSP00000421280:G77S;ENSP00000421309:G88S;ENSP00000426783:G44S;ENSP00000426664:G77S	ENSP00000426783:G44S	G	-	1	0	MYO10	16871168	1.000000	0.71417	0.926000	0.36857	0.568000	0.35870	7.102000	0.77005	2.894000	0.99253	0.655000	0.94253	GGC		0.448	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		T	16818168	C	T	16818168	3	4	541	1	0	0	0	0	1	0	0	0	10064	652	23	1	6103	1	MYO10	5	16818168	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10		16818168	164097092	23	29086											
ADAMTS12	81792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33588814	33588814	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr5:33588814G>T	ENST00000504830.1	-	18	3090	c.2755C>A	c.(2755-2757)Cag>Aag	p.Q919K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q834K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	919	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q919K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGAGAGCCTGCTCGTCAGAG	0.637										HNSCC(64;0.19)																																						1	Substitution - Missense(1)	kidney(1)											128	124	125					5																	33588814		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2755C>A	5.37:g.33588814G>T	ENSP00000422554:p.Gln919Lys		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184939	0.78677	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59638	0.29;0.25	5.98	5.98	0.97165	.	0.110120	0.64402	D	0.000005	T	0.68476	0.3005	M	0.75264	2.295	0.80722	D	1	B;P	0.38048	0.42;0.616	B;P	0.51550	0.187;0.673	T	0.61451	-0.7060	10	0.09590	T	0.72	.	15.8809	0.79205	0.0:0.1347:0.8653:0.0	.	834;919	P58397-3;P58397	.;ATS12_HUMAN	K	919;834	ENSP00000422554:Q919K;ENSP00000344847:Q834K	ENSP00000344847:Q834K	Q	-	1	0	ADAMTS12	33624571	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.141000	0.58038	2.838000	0.97847	0.591000	0.81541	CAG		0.637	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		T	33588814	G	T	33588814	3	4	541	1	0	0	0	0	1	0	0	0	257	1328	46	4	2057	4	ADAMTS12	5	33588814	Missense_Mutation	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	16770646	33588814	147326446	24	29087											
F2RL2	2151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	75914170	75914170	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr5:75914170A>C	ENST00000296641.4	-	2	565	c.362T>G	c.(361-363)tTc>tGc	p.F121C	IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.F99C|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	121					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)	p.F121C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TCTGGTCCTGAAGAAAAGCAT	0.453																																																1	Substitution - Missense(1)	kidney(1)											94	94	94					5																	75914170		2203	4300	6503	SO:0001583	missense	2151			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"GPCR / Class A : Protease activated receptors"	3539	protein-coding gene	gene with protein product	"proteinase-activated receptor-3"	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.362T>G	5.37:g.75914170A>C	ENSP00000296641:p.Phe121Cys		B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547925	0.45383	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.37915	1.17;1.17	5.15	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.530154	0.21970	N	0.066480	T	0.35451	0.0932	L	0.38733	1.17	0.22888	N	0.99861	D	0.56287	0.975	P	0.53689	0.732	T	0.09907	-1.0653	10	0.30854	T	0.27	-8.772	6.3626	0.21437	0.7844:0.0:0.0761:0.1395	.	121	O00254	PAR3_HUMAN	C	121;99	ENSP00000296641:F121C;ENSP00000426703:F99C	ENSP00000296641:F121C	F	-	2	0	F2RL2	75949926	0.990000	0.36364	0.936000	0.37596	0.784000	0.44337	1.585000	0.36600	0.754000	0.32968	0.455000	0.32223	TTC		0.453	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			C	75914170	A	C	75914170	3	2	541	1	0	0	0	0	1	0	0	0	5347	246	9	5	766	5	F2RL2	5	75914170	Missense_Mutation	SNP	A	TCGA-CJ-5676-01A-11D-1534-10	42325356	75914170	105001090	25	29088											
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	90074272	90074272	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr5:90074272A>C	ENST00000405460.2	+	63	12791	c.12695A>C	c.(12694-12696)aAa>aCa	p.K4232T	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4232	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.K4232T(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCGAGGAAAAAAGCTTCTAT	0.453																																																1	Substitution - Missense(1)	kidney(1)											38	37	37					5																	90074272		1946	4148	6094	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12695A>C	5.37:g.90074272A>C	ENSP00000384582:p.Lys4232Thr		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.853344	0.32791	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.26373	1.74	5.62	4.48	0.54585	.	0.092352	0.64402	D	0.000001	T	0.24586	0.0596	L	0.56769	1.78	0.80722	D	1	P	0.42827	0.791	B	0.38378	0.272	T	0.03503	-1.1030	10	0.41790	T	0.15	.	10.9944	0.47567	0.9273:0.0:0.0727:0.0	.	4232	Q8WXG9	GPR98_HUMAN	T	4232	ENSP00000384582:K4232T	ENSP00000296619:K4232T	K	+	2	0	GPR98	90110028	1.000000	0.71417	0.845000	0.33349	0.012000	0.07955	5.401000	0.66326	2.119000	0.64992	0.533000	0.62120	AAA		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		C	90074272	A	C	90074272	3	2	541	1	0	0	0	0	1	0	0	0	6723	14	1	5	12945	5	GPR98	5	90074272	Missense_Mutation	SNP	A	TCGA-CJ-5676-01A-11D-1534-10	14160102	90074272	90840988	26	29089											
DMXL1	1657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	118502399	118502399	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr5:118502399T>G	ENST00000311085.8	+	22	5139	c.5059T>G	c.(5059-5061)Tct>Gct	p.S1687A	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1687A	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1687								p.S1687A(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAATGCTTTTTCTTTGCTAGG	0.358																																																1	Substitution - Missense(1)	kidney(1)											98	100	99					5																	118502399		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.5059T>G	5.37:g.118502399T>G	ENSP00000309690:p.Ser1687Ala			Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358645	0.41801	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.28895	1.59;1.59	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	N	0.13098	0.295	0.58432	D	0.999999	P;P	0.38729	0.644;0.56	B;B	0.40659	0.269;0.336	T	0.03910	-1.0993	10	0.02654	T	1	-18.2577	16.2159	0.82217	0.0:0.0:0.0:1.0	.	1687;1687	F5H269;Q9Y485	.;DMXL1_HUMAN	A	1687	ENSP00000309690:S1687A;ENSP00000439479:S1687A	ENSP00000309690:S1687A	S	+	1	0	DMXL1	118530298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.976000	0.70484	2.243000	0.73865	0.533000	0.62120	TCT		0.358	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		G	118502399	T	G	118502399	3	3	541	1	0	0	0	0	1	0	0	0	4596	1783	62	5	5145	5	DMXL1	5	118502399	Missense_Mutation	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	28428127	118502399	62412861	27	29090											
ZNF300	91975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150276423	150276423	+	Silent	SNP	T	T	C			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr5:150276423T>C	ENST00000274599.5	-	6	798	c.378A>G	c.(376-378)aaA>aaG	p.K126K	ZNF300_ENST00000418587.2_Silent_p.K90K|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Silent_p.K142K|ZNF300_ENST00000394226.2_Silent_p.K126K	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K126K(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGACAGACTTTTAAAATGG	0.423																																																1	Substitution - coding silent(1)	kidney(1)											102	97	99					5																	150276423		2203	4299	6502	SO:0001819	synonymous_variant	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.378A>G	5.37:g.150276423T>C			A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP	ENST00000274599.5	37	CCDS4311.2																																																																																				0.423	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		C	150276423	T	C	150276423	2	2	541	1	0	0	0	0	0	0	0	1	17836	1606	56	3		3	ZNF300	5	150276423	Silent	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	31774024	150276423	30638837	28	29091			1	46		2	2	31	T		6.395818e-05
ZNF300	91975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150276453	150276453	+	Silent	SNP	T	T	C			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr5:150276453T>C	ENST00000274599.5	-	6	768	c.348A>G	c.(346-348)acA>acG	p.T116T	ZNF300_ENST00000418587.2_Silent_p.T80T|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Silent_p.T132T|ZNF300_ENST00000394226.2_Silent_p.T116T	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T116T(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCATCCCTTGTGACTCCTT	0.408																																																1	Substitution - coding silent(1)	kidney(1)											81	77	78					5																	150276453		2203	4299	6502	SO:0001819	synonymous_variant	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.348A>G	5.37:g.150276453T>C			A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP	ENST00000274599.5	37	CCDS4311.2																																																																																				0.408	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		C	150276453	T	C	150276453	2	2	541	1	0	0	0	0	0	0	0	1	17836	1799	63	3		3	ZNF300	5	150276453	Silent	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	30	150276453	30638807	29	29092			1	46		2	2	31	T		6.395818e-05
GEMIN5	25929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154270986	154270986	+	Silent	SNP	G	G	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr5:154270986G>A	ENST00000285873.7	-	26	4152	c.4077C>T	c.(4075-4077)ctC>ctT	p.L1359L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1359					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.L1359L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCTGAAAAGAGCTCCTTAA	0.468																																																1	Substitution - coding silent(1)	kidney(1)											156	153	154					5																	154270986		2203	4300	6503	SO:0001819	synonymous_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4077C>T	5.37:g.154270986G>A			Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	CCDS4330.1																																																																																				0.468	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			A	154270986	G	A	154270986	2	1	541	1	0	0	0	0	0	0	0	1	6333	929	33	2		2	GEMIN5	5	154270986	Silent	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	3994533	154270986	26644274	30	29093											
ZNF165	7718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28054028	28054028	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr6:28054028C>G	ENST00000377325.1	+	3	1046	c.490C>G	c.(490-492)Cag>Gag	p.Q164E		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	164					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q164E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTCAAGTTACAGCCAGTGGA	0.438																																																1	Substitution - Missense(1)	kidney(1)											121	108	112					6																	28054028		2203	4300	6503	SO:0001583	missense	7718			U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.490C>G	6.37:g.28054028C>G	ENSP00000366542:p.Gln164Glu			Missense_Mutation	SNP	ENST00000377325.1	37	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	C	1.568	-0.534903	0.04082	.	.	ENSG00000197279	ENST00000377325	T	0.05996	3.36	2.47	1.58	0.23477	.	.	.	.	.	T	0.02156	0.0067	L	0.50333	1.59	0.21782	N	0.999549	P	0.42692	0.787	B	0.37387	0.248	T	0.43637	-0.9379	9	0.44086	T	0.13	.	7.1847	0.25793	0.0:0.7213:0.2787:0.0	.	164	P49910	ZN165_HUMAN	E	164	ENSP00000366542:Q164E	ENSP00000366542:Q164E	Q	+	1	0	ZNF165	28162007	0.306000	0.24490	0.525000	0.27900	0.008000	0.06430	1.326000	0.33735	0.619000	0.30197	-0.165000	0.13383	CAG		0.438	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		G	28054028	C	G	28054028	3	3	541	1	0	0	0	0	1	0	0	0	17745	479	17	4	496	4	ZNF165	6	28054028	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10		28054028	143061039	31	29094											
ABCF1	23	broad.mit.edu	37	6	30551602	30551602	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr6:30551602T>C	ENST00000326195.8	+	12	1149	c.1037T>C	c.(1036-1038)cTc>cCc	p.L346P	MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000376545.3_Missense_Mutation_p.L308P|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	346	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.L346P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						ACCACACTCCTCAAGCACATT	0.547																																																1	Substitution - Missense(1)	kidney(1)											101	83	89					6																	30551602		1511	2709	4220	SO:0001583	missense	23			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1037T>C	6.37:g.30551602T>C	ENSP00000313603:p.Leu346Pro		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627003	0.66901	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943	D;D	0.95788	-3.81;-3.81	5.19	3.95	0.45737	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.96996	3.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98600	1.0658	10	0.87932	D	0	-15.8715	10.8619	0.46831	0.0:0.0:0.1578:0.8421	.	308;346;346	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	P	346;308;347	ENSP00000313603:L346P;ENSP00000365728:L308P	ENSP00000313603:L346P	L	+	2	0	ABCF1	30659581	1.000000	0.71417	0.999000	0.59377	0.809000	0.45718	5.607000	0.67648	1.960000	0.56953	0.260000	0.18958	CTC		0.547	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			C	30551602	T	C	30551602	3	2	541	1	0	0	0	0	1	0	0	0	65	1551	54	3	1083	3	ABCF1	6	30551602	Missense_Mutation	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	2497574	30551602	140563465	32	29095											
XPO5	57510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43528033	43528033	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr6:43528033C>T	ENST00000265351.7	-	11	1313	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	XPO5_ENST00000424378.2_5'Flank|RP3-337H4.10_ENST00000607635.1_RNA	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	368					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.R368H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGTTGAAGAGCGTAGAAACTA	0.363																																																1	Substitution - Missense(1)	kidney(1)											42	38	39					6																	43528033		1816	4069	5885	SO:0001583	missense	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1103G>A	6.37:g.43528033C>T	ENSP00000265351:p.Arg368His		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322182	0.81580	.	.	ENSG00000124571	ENST00000265351;ENST00000436943	T	0.71461	-0.57	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.110225	0.64402	D	0.000015	T	0.64316	0.2587	L	0.50333	1.59	0.51482	D	0.999921	D	0.69078	0.997	P	0.52481	0.7	T	0.60762	-0.7199	10	0.20519	T	0.43	-13.643	15.0975	0.72247	0.0:0.8588:0.1412:0.0	.	368	Q9HAV4	XPO5_HUMAN	H	368;73	ENSP00000265351:R368H	ENSP00000265351:R368H	R	-	2	0	XPO5	43636011	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.057000	0.57455	2.623000	0.88846	0.460000	0.39030	CGC		0.363	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		T	43528033	C	T	43528033	3	4	541	1	0	0	0	0	1	0	0	0	17452	768	27	1	2599	1	XPO5	6	43528033	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	12976431	43528033	127587034	33	29096											
GPR116	221395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46826546	46826546	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr6:46826546C>T	ENST00000283296.7	-	17	3382	c.3094G>A	c.(3094-3096)Gtt>Att	p.V1032I	GPR116_ENST00000265417.7_Missense_Mutation_p.V1032I|GPR116_ENST00000362015.4_Missense_Mutation_p.V1032I|GPR116_ENST00000545669.1_Missense_Mutation_p.V461I|GPR116_ENST00000456426.2_Missense_Mutation_p.V890I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1032					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V1032I(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCTTCCACAACTAGACAGGCT	0.507																																					NSCLC(59;410 1274 8751 36715 50546)											1	Substitution - Missense(1)	kidney(1)											48	49	49					6																	46826546		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3094G>A	6.37:g.46826546C>T	ENSP00000283296:p.Val1032Ile		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	2.499	-0.315709	0.05422	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.61	3.8	0.43715	GPCR, family 2-like (1);	0.340286	0.24899	N	0.034717	T	0.03695	0.0105	N	0.01257	-0.925	0.09310	N	1	B;B;B;B;B	0.25521	0.009;0.003;0.128;0.006;0.128	B;B;B;B;B	0.26517	0.01;0.015;0.07;0.028;0.07	T	0.35599	-0.9782	10	0.02654	T	1	-10.0018	12.0363	0.53427	0.0:0.8328:0.0:0.1672	.	461;587;1032;890;1032	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	I	1032;1032;1032;890;403;1032;461	ENSP00000283296:V1032I;ENSP00000354563:V1032I;ENSP00000412866:V890I;ENSP00000265417:V1032I;ENSP00000441581:V461I	ENSP00000265417:V1032I	V	-	1	0	GPR116	46934505	0.010000	0.17322	0.166000	0.22797	0.733000	0.41908	0.177000	0.16801	2.642000	0.89623	0.650000	0.86243	GTT		0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		T	46826546	C	T	46826546	3	4	541	1	0	0	0	0	1	0	0	0	6635	565	20	2	966	2	GPR116	6	46826546	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	3298513	46826546	124288521	34	29097											
PKHD1	5314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	51612746	51612746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr6:51612746G>T	ENST00000371117.3	-	58	9943	c.9668C>A	c.(9667-9669)tCa>tAa	p.S3223*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S3223*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3223					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.S3223*(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAGTTGGCTGAGTGCGGCTT	0.463																																																2	Substitution - Nonsense(2)	kidney(2)											114	111	112					6																	51612746		2203	4300	6503	SO:0001587	stop_gained	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9668C>A	6.37:g.51612746G>T	ENSP00000360158:p.Ser3223*		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	51	18.494556	0.99906	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.75	5.75	0.90469	.	0.176101	0.40064	N	0.001186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9315	0.92568	0.0:0.0:1.0:0.0	.	.	.	.	X	3223	.	ENSP00000341097:S3223X	S	-	2	0	PKHD1	51720705	1.000000	0.71417	0.968000	0.41197	0.562000	0.35680	6.432000	0.73400	2.716000	0.92895	0.655000	0.94253	TCA		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		T	51612746	G	T	51612746	4	4	541	1	0	0	0	0	0	1	0	0	11973	1294	45	4	2635	4	PKHD1	6	51612746	Nonsense_Mutation	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	4786200	51612746	119502321	35	29098											
UTRN	7402	broad.mit.edu;ucsc.edu	37	6	144811221	144811221	+	Silent	SNP	G	G	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr6:144811221G>A	ENST00000367545.3	+	30	4149	c.4149G>A	c.(4147-4149)gaG>gaA	p.E1383E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1383	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E1383E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCCAAGCAGAGATCTCAGCCC	0.423																																																1	Substitution - coding silent(1)	kidney(1)											91	102	98					6																	144811221		2203	4300	6503	SO:0001819	synonymous_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4149G>A	6.37:g.144811221G>A			Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	CCDS34547.1																																																																																				0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			A	144811221	G	A	144811221	2	1	541	1	0	0	0	0	0	0	0	1	17108	933	33	2		2	UTRN	6	144811221	Silent	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	93198475	144811221	26303846	36	29099											
CDK14	5218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	90356089	90356089	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr7:90356089A>T	ENST00000380050.3	+	3	463	c.332A>T	c.(331-333)gAg>gTg	p.E111V	CDK14_ENST00000265741.3_Missense_Mutation_p.E93V|CDK14_ENST00000406263.1_Missense_Mutation_p.E65V|CDK14_ENST00000436577.2_Missense_Mutation_p.S14C			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	111					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E111V(1)|p.E93V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ACTGGCAAAGAGTCACCTAAA	0.438																																					GBM(83;1228 1256 8311 16577 31299)											2	Substitution - Missense(2)	kidney(2)											92	84	87					7																	90356089		2203	4299	6502	SO:0001583	missense	5218				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.332A>T	7.37:g.90356089A>T	ENSP00000369390:p.Glu111Val		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.76|12.76	2.035429|2.035429	0.35893|0.35893	.|.	.|.	ENSG00000058091|ENSG00000058091	ENST00000449528;ENST00000446224;ENST00000430760;ENST00000456689;ENST00000380050;ENST00000446790;ENST00000265741;ENST00000406263|ENST00000436577	T;T;T;T;T;T;T|T	0.71579|0.72282	2.16;2.16;2.16;2.16;-0.58;-0.58;-0.57|-0.64	5.51|5.51	4.32|4.32	0.51571|0.51571	.|.	0.140352|.	0.45126|.	N|.	0.000392|.	T|T	0.51635|0.51635	0.1686|0.1686	N|N	0.19112|0.19112	0.55|0.55	0.29341|0.29341	N|N	0.866039|0.866039	B;B|P	0.09022|0.46327	0.002;0.001|0.876	B;B|B	0.08055|0.33042	0.003;0.002|0.157	T|T	0.51068|0.51068	-0.8752|-0.8752	10|9	0.25106|0.87932	T|D	0.35|0	-9.3333|-9.3333	11.6772|11.6772	0.51436|0.51436	0.8671:0.0:0.0:0.1329|0.8671:0.0:0.0:0.1329	.|.	93;111|14	O94921-2;O94921|E7EUK8	.;CDK14_HUMAN|.	V|C	65;65;65;65;111;65;93;65|14	ENSP00000393616:E65V;ENSP00000410770:E65V;ENSP00000394570:E65V;ENSP00000406848:E65V;ENSP00000369390:E111V;ENSP00000265741:E93V;ENSP00000385034:E65V|ENSP00000398936:S14C	ENSP00000265741:E93V|ENSP00000398936:S14C	E|S	+|+	2|1	0|0	CDK14|CDK14	90194025|90194025	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.984000|0.984000	0.73092|0.73092	8.513000|8.513000	0.90542|0.90542	0.883000|0.883000	0.36040|0.36040	0.460000|0.460000	0.39030|0.39030	GAG|AGT		0.438	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		T	90356089	A	T	90356089	3	4	541	1	0	0	0	0	1	0	0	0	3132	304	11	5	284	5	CDK14	7	90356089	Missense_Mutation	SNP	A	TCGA-CJ-5676-01A-11D-1534-10		90356089	68782574	37	29100											
JAK2	3717	broad.mit.edu;hgsc.bcm.edu	37	9	5126444	5126444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr9:5126444G>T	ENST00000381652.3	+	24	3783	c.3289G>T	c.(3289-3291)Gag>Tag	p.E1097*	JAK2_ENST00000544510.1_Nonsense_Mutation_p.E948*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.E1097*|JAK2_ENST00000487310.1_3'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1097	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.E1097*(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ATGCCCAGATGAGGTAACAAT	0.363		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	1	Substitution - Nonsense(1)	kidney(1)											92	85	87					9																	5126444		2203	4300	6503	SO:0001587	stop_gained	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3289G>T	9.37:g.5126444G>T	ENSP00000371067:p.Glu1097*		O14636|O75297	Nonsense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	43	10.006360	0.99315	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.41	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-15.7092	15.5385	0.76021	0.0:0.0:0.8615:0.1385	.	.	.	.	X	1097;1097;948	.	ENSP00000371067:E1097X	E	+	1	0	JAK2	5116444	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.325000	0.72901	2.539000	0.85634	0.655000	0.94253	GAG		0.363	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			T	5126444	G	T	5126444	4	4	541	1	0	0	0	0	0	1	0	0	7940	1291	45	4	3375	4	JAK2	9	5126444	Nonsense_Mutation	SNP	G	TCGA-CJ-5676-01A-11D-1534-10		5126444	136086987	38	29101											
C9orf128	392307	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35826098	35826098	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr9:35826098G>C	ENST00000423537.2	-	2	330	c.61C>G	c.(61-63)Cct>Gct	p.P21A	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	21								p.P21A(3)		endometrium(2)|kidney(1)|lung(4)	7						TCCTTTGAAGGGGGGTGCTTC	0.498											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				3	Substitution - Missense(3)	kidney(3)											67	67	67					9																	35826098		1924	4121	6045	SO:0001583	missense	0			BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 128"	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.61C>G	9.37:g.35826098G>C	ENSP00000415299:p.Pro21Ala	858	Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	CCDS43799.2	.	.	.	.	.	.	.	.	.	.	g	0.027	-1.364478	0.01235	.	.	ENSG00000204930	ENST00000423537;ENST00000377984;ENST00000472182	T;T;T	0.29397	2.64;2.37;1.57	4.23	1.65	0.23941	.	0.518270	0.16457	N	0.213595	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33471	-0.9867	10	0.10377	T	0.69	.	5.6695	0.17715	0.7728:0.0:0.2272:0.0	.	21	A6H8Z2	CI128_HUMAN	A	21	ENSP00000415299:P21A;ENSP00000367222:P21A;ENSP00000420279:P21A	ENSP00000367222:P21A	P	-	1	0	C9orf128	35816098	0.957000	0.32711	0.071000	0.20095	0.067000	0.16453	1.020000	0.30027	0.282000	0.22254	-0.487000	0.04747	CCT		0.498	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446		C	35826098	G	C	35826098	3	2	541	1	0	0	0	0	1	0	0	0	2457	1232	43	4	1171	4	C9orf128	9	35826098	Missense_Mutation	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	30699654	35826098	105387333	39	29102											
C9orf114	51490	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131587284	131587284	+	Silent	SNP	A	A	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr9:131587284A>T	ENST00000361256.5	-	8	724	c.684T>A	c.(682-684)acT>acA	p.T228T		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	228							poly(A) RNA binding (GO:0044822)	p.T228T(1)		kidney(2)|large_intestine(4)|ovary(1)	7						TCAGTCGCACAGTCACCCGAA	0.592																																																1	Substitution - coding silent(1)	kidney(1)											30	29	30					9																	131587284		2201	4298	6499	SO:0001819	synonymous_variant	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.684T>A	9.37:g.131587284A>T			Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Silent	SNP	ENST00000361256.5	37	CCDS6913.1																																																																																				0.592	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390		T	131587284	A	T	131587284	2	4	541	1	0	0	0	0	0	0	0	1	2451	175	7	5		5	C9orf114	9	131587284	Silent	SNP	A	TCGA-CJ-5676-01A-11D-1534-10	95761186	131587284	9626147	40	29103											
OGDHL	55753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	50960187	50960187	+	Missense_Mutation	SNP	G	G	A	rs571841376		TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr10:50960187G>A	ENST00000374103.4	-	5	671	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	OGDHL_ENST00000432695.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.R139C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	196					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R196C(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACCTCCAGGCGCCGAATGATC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18491	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											47	48	48					10																	50960187		2203	4300	6503	SO:0001583	missense	55753			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.586C>T	10.37:g.50960187G>A	ENSP00000363216:p.Arg196Cys		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875196	0.72180	.	.	ENSG00000197444	ENST00000374103;ENST00000419399	T;T	0.14516	2.5;2.5	5.55	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.07654	-1.0761	10	0.49607	T	0.09	.	13.3059	0.60352	0.0:0.0:0.7119:0.2881	.	139;196	Q9ULD0-2;Q9ULD0	.;OGDHL_HUMAN	C	196;139	ENSP00000363216:R196C;ENSP00000401356:R139C	ENSP00000363216:R196C	R	-	1	0	OGDHL	50630193	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	3.693000	0.54735	1.306000	0.44926	0.591000	0.81541	CGC		0.567	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		A	50960187	G	A	50960187	3	1	541	1	0	0	0	0	1	0	0	0	10842	1087	38	1	2522	1	OGDHL	10	50960187	Missense_Mutation	SNP	G	TCGA-CJ-5676-01A-11D-1534-10		50960187	84574560	41	29104											
TRIM34	53840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5655129	5655129	+	Splice_Site	SNP	G	G	C			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr11:5655129G>C	ENST00000514226.1	+	3	856	c.519G>C	c.(517-519)aaG>aaC	p.K173N	TRIM6-TRIM34_ENST00000457787.2_Splice_Site_p.K173N|TRIM6-TRIM34_ENST00000354852.5_Splice_Site_p.K527N|TRIM34_ENST00000429814.2_Splice_Site_p.K173N|HBG2_ENST00000380259.2_Intron	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	173					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.K173N(1)|p.K527N(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCTGGAAGGCAAGAGGAG	0.473																																																2	Substitution - Missense(2)	kidney(2)											63	65	64					11																	5655129		2201	4297	6498	SO:0001630	splice_region_variant	53840			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.519+1G>C	11.37:g.5655129G>C			D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804992	0.70682	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.29142	3.47;3.47;3.47;1.58	3.64	3.64	0.41730	.	0.000000	0.33610	N	0.004729	T	0.48409	0.1498	M	0.81112	2.525	0.24658	N	0.993486	P;P;P	0.50443	0.935;0.816;0.693	P;P;B	0.55713	0.782;0.69;0.367	T	0.41610	-0.9499	10	0.66056	D	0.02	.	11.1174	0.48268	0.0:0.0:1.0:0.0	.	173;173;527	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	N	527;173;173;173;527	ENSP00000422947:K173N;ENSP00000402595:K173N;ENSP00000395982:K173N;ENSP00000346916:K527N	ENSP00000402595:K173N	K	+	3	2	TRIM34;TRIM6-TRIM34	5611705	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.061000	0.49963	2.331000	0.79229	0.655000	0.94253	AAG		0.473	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	Missense_Mutation	C	5655129	G	C	5655129	5	2	541	1	0	0	0	0	0	0	1	0	16513	1014	35	4	525	4	TRIM34	11	5655129	Splice_Site	SNP	G	TCGA-CJ-5676-01A-11D-1534-10		5655129	129351387	42	29105											
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu	37	11	62290074	62290074	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr11:62290074T>A	ENST00000378024.4	-	5	12089	c.11815A>T	c.(11815-11817)Aag>Tag	p.K3939*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3939					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K3939*(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGCTGATCTTGGGCATTTTT	0.502																																																1	Substitution - Nonsense(1)	kidney(1)											229	243	238					11																	62290074		2202	4299	6501	SO:0001587	stop_gained	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11815A>T	11.37:g.62290074T>A	ENSP00000367263:p.Lys3939*		A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	53	20.094304	0.99927	.	.	ENSG00000124942	ENST00000378024	.	.	.	4.71	4.71	0.59529	.	0.199810	0.24587	U	0.037244	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7759	9.3135	0.37919	0.1604:0.0:0.0:0.8396	.	.	.	.	X	3939	.	ENSP00000367263:K3939X	K	-	1	0	AHNAK	62046650	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	1.625000	0.37029	1.745000	0.51790	0.408000	0.27601	AAG		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62290074	T	A	62290074	4	1	541	1	0	0	0	0	0	1	0	0	414	1821	63	5	5977	5	AHNAK	11	62290074	Nonsense_Mutation	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	56634945	62290074	72716442	43	29106											
YAP1	10413	broad.mit.edu	37	11	101984953	101984953	+	Silent	SNP	T	T	C			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr11:101984953T>C	ENST00000282441.5	+	2	788	c.400T>C	c.(400-402)Ttg>Ctg	p.L134L	YAP1_ENST00000526343.1_Silent_p.L134L|YAP1_ENST00000537274.1_Silent_p.L134L|YAP1_ENST00000524575.1_5'UTR|YAP1_ENST00000531439.1_Silent_p.L134L|YAP1_ENST00000345877.2_Silent_p.L134L	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	134					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.L134L(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TTCTCTGCAGTTGGGAGCTGT	0.527																																					Colon(50;247 1103 7861 28956)											1	Substitution - coding silent(1)	kidney(1)											67	66	66					11																	101984953		2203	4299	6502	SO:0001819	synonymous_variant	10413				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.400T>C	11.37:g.101984953T>C			B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	37	CCDS44716.1																																																																																				0.527	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		C	101984953	T	C	101984953	2	2	541	1	0	0	0	0	0	0	0	1	17471	1722	60	3		3	YAP1	11	101984953	Silent	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	39694879	101984953	33021563	44	29107											
EXPH5	23086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108382795	108382795	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr11:108382795T>A	ENST00000265843.4	-	6	3549	c.3439A>T	c.(3439-3441)Atg>Ttg	p.M1147L	EXPH5_ENST00000428840.1_Missense_Mutation_p.M1071L|EXPH5_ENST00000443411.1_Missense_Mutation_p.M959L|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.M1140L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1147			M -> I (in dbSNP:rs34012545).		intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.M1147L(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAGCATCCATGCCTGAGGTC	0.468																																																1	Substitution - Missense(1)	kidney(1)											97	99	98					11																	108382795		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3439A>T	11.37:g.108382795T>A	ENSP00000265843:p.Met1147Leu		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	1.334	-0.595905	0.03771	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.03524	4.53;4.45;4.3;4.53;4.37;3.9	5.77	0.655	0.17839	.	0.702507	0.13726	N	0.367039	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47446	-0.9117	10	0.02654	T	1	1.0693	1.4835	0.02442	0.3017:0.0825:0.157:0.4589	.	1147	Q8NEV8	EXPH5_HUMAN	L	1147;1071;959;1140;1071;959	ENSP00000265843:M1147L;ENSP00000391966:M1071L;ENSP00000411390:M959L;ENSP00000432546:M1140L;ENSP00000432683:M1071L;ENSP00000446434:M959L	ENSP00000265843:M1147L	M	-	1	0	EXPH5	107888005	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.050000	0.11904	0.072000	0.16694	-0.313000	0.08912	ATG		0.468	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		A	108382795	T	A	108382795	3	1	541	1	0	0	0	0	1	0	0	0	5324	1464	51	5	2534	5	EXPH5	11	108382795	Missense_Mutation	SNP	T	TCGA-CJ-5676-01A-11D-1534-10	6397842	108382795	26623721	45	29108											
C12orf53	196500	broad.mit.edu	37	12	6806817	6806817	+	Silent	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr12:6806817C>T	ENST00000540656.1	-	3	497	c.159G>A	c.(157-159)tcG>tcA	p.S53S	PIANP_ENST00000534837.1_Silent_p.S53S|PIANP_ENST00000320591.5_Silent_p.S53S	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	53						integral component of membrane (GO:0016021)		p.S53S(1)									GACGTGGGGCCGAGGGGCCTC	0.697																																																1	Substitution - coding silent(1)	kidney(1)											7	8	8					12																	6806817		1833	3990	5823	SO:0001819	synonymous_variant	0			BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"PILR-associating neural protein"		"chromosome 12 open reading frame 53"	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.159G>A	12.37:g.6806817C>T			A8K0T3|B3KPF7|B3KRI6|Q6UX35	Silent	SNP	ENST00000540656.1	37	CCDS44818.1	.	.	.	.	.	.	.	.	.	.	C	7.344	0.621548	0.14193	.	.	ENSG00000139200	ENST00000439553	.	.	.	4.06	-8.12	0.01078	.	.	.	.	.	.	.	.	.	.	.	0.40242	D	0.977979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8664	0.24096	0.3799:0.4043:0.0:0.2158	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf53	6677078	0.000000	0.05858	0.550000	0.28217	0.859000	0.49053	-3.543000	0.00436	-3.009000	0.00273	-0.657000	0.03884	.		0.697	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400524.1	NM_153685		T	6806817	C	T	6806817	2	4	541	1	0	0	0	0	0	0	0	1	1700	639	23	1		1	C12orf53	12	6806817	Silent	SNP	C	TCGA-CJ-5676-01A-11D-1534-10		6806817	127045078	46	29109											
PTPN6	5777	hgsc.bcm.edu;ucsc.edu	37	12	7064112	7064112	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr12:7064112delC	ENST00000318974.9	+	4	715	c.471delC	c.(469-471)ggcfs	p.G157fs	PTPN6_ENST00000447931.2_Frame_Shift_Del_p.G118fs|PTPN6_ENST00000456013.1_Frame_Shift_Del_p.G157fs|PTPN6_ENST00000399448.1_Frame_Shift_Del_p.G159fs	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	157	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCAAGGCTGGCCCAGGCTCCC	0.642																																																0													51	57	55					12																	7064112		1998	4162	6160	SO:0001589	frameshift_variant	5777				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.471delC	12.37:g.7064112delC	ENSP00000326010:p.Gly157fs		A8K306|G3V0F8|Q969V8|Q9UK67	Frame_Shift_Del	DEL	ENST00000318974.9	37	CCDS44820.1																																																																																				0.642	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		-	7064112	C	-	7064112	7	5	541	1	0	1	0	1	0	0	0	0	12798	726	26	0	503	0	PTPN6	12	7064112	Frame_Shift_Del	DEL	C	TCGA-CJ-5676-01A-11D-1534-10	257295	7064112	126787783	47	29110											
GLI1	2735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57861144	57861144	+	Missense_Mutation	SNP	G	G	T	rs373249560		TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr12:57861144G>T	ENST00000228682.2	+	9	1032	c.941G>T	c.(940-942)cGc>cTc	p.R314L	GLI1_ENST00000546141.1_Missense_Mutation_p.R273L|GLI1_ENST00000543426.1_Missense_Mutation_p.R186L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	314					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.R314L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCATACTCACGCCTCGAAAAC	0.542																																					Pancreas(157;841 1936 10503 41495 50368)											1	Substitution - Missense(1)	kidney(1)											110	97	101					12																	57861144		2203	4300	6503	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.941G>T	12.37:g.57861144G>T	ENSP00000228682:p.Arg314Leu		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334825	0.95758	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000056	T	0.53642	0.1809	L	0.31157	0.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58188	-0.7680	10	0.87932	D	0	.	16.8311	0.85944	0.0:0.0:1.0:0.0	.	314	P08151	GLI1_HUMAN	L	186;314;273;273;186	ENSP00000437607:R186L;ENSP00000228682:R314L;ENSP00000441006:R273L;ENSP00000434408:R273L	ENSP00000228682:R314L	R	+	2	0	GLI1	56147411	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.561000	0.98142	2.575000	0.86900	0.563000	0.77884	CGC		0.542	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		T	57861144	G	T	57861144	3	4	541	1	0	0	0	0	1	0	0	0	6439	1087	38	4	971	4	GLI1	12	57861144	Missense_Mutation	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	50797032	57861144	75990751	48	29111											
NAV3	89795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	78401106	78401106	+	Silent	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr12:78401106C>T	ENST00000397909.2	+	8	1961	c.1788C>T	c.(1786-1788)tcC>tcT	p.S596S	NAV3_ENST00000228327.6_Silent_p.S596S|NAV3_ENST00000536525.2_Silent_p.S596S|NAV3_ENST00000266692.7_Silent_p.S596S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	596						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S596S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTTCTGGTTCCTGTACCATGA	0.522										HNSCC(70;0.22)																																						1	Substitution - coding silent(1)	kidney(1)											123	119	120					12																	78401106		2035	4194	6229	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1788C>T	12.37:g.78401106C>T			Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37																																																																																					0.522	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		T	78401106	C	T	78401106	2	4	541	1	0	0	0	0	0	0	0	1	10187	668	24	2		2	NAV3	12	78401106	Silent	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	20539962	78401106	55450789	49	29112											
PIWIL1	9271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	130839159	130839159	+	Silent	SNP	G	G	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr12:130839159G>T	ENST00000245255.3	+	10	1394	c.1122G>T	c.(1120-1122)ggG>ggT	p.G374G		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	374	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.G374G(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCCCTGGGGGGACACTGCCAG	0.542																																																1	Substitution - coding silent(1)	kidney(1)											62	70	67					12																	130839159		2203	4300	6503	SO:0001819	synonymous_variant	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1122G>T	12.37:g.130839159G>T			A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	CCDS9268.1																																																																																				0.542	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			T	130839159	G	T	130839159	2	4	541	1	0	0	0	0	0	0	0	1	11959	1161	41	4		4	PIWIL1	12	130839159	Silent	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	52438053	130839159	3012736	50	29113											
TPP2	7174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	103275383	103275383	+	Silent	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr13:103275383C>T	ENST00000376065.4	+	6	813	c.777C>T	c.(775-777)acC>acT	p.T259T	TPP2_ENST00000376052.3_Silent_p.T259T	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	259	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.T259T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCATTGTGACCAGTGGAGGTA	0.403																																																1	Substitution - coding silent(1)	kidney(1)											143	149	147					13																	103275383		2203	4300	6503	SO:0001819	synonymous_variant	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.777C>T	13.37:g.103275383C>T			Q5VZU8	Silent	SNP	ENST00000376065.4	37	CCDS9502.1																																																																																				0.403	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			T	103275383	C	T	103275383	2	4	541	1	0	0	0	0	0	0	0	1	16417	581	21	2		2	TPP2	13	103275383	Silent	SNP	C	TCGA-CJ-5676-01A-11D-1534-10		103275383	11894495	51	29114											
RTN1	6252	broad.mit.edu	37	14	60194207	60194207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr14:60194207delG	ENST00000267484.5	-	3	1530	c.1195delC	c.(1195-1197)ctgfs	p.L399fs		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	399					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCGTGGTCCAGGGGGCTGGGG	0.687																																																0													13	13	13					14																	60194207		2196	4285	6481	SO:0001589	frameshift_variant	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1195delC	14.37:g.60194207delG	ENSP00000267484:p.Leu399fs		Q16800|Q16801|Q5BKZ4|Q9BQ59	Frame_Shift_Del	DEL	ENST00000267484.5	37	CCDS9740.1																																																																																				0.687	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			-	60194207	G	-	60194207	7	5	541	1	0	1	0	1	0	0	0	0	13731	991	35	0	1228	0	RTN1	14	60194207	Frame_Shift_Del	DEL	G	TCGA-CJ-5676-01A-11D-1534-10		60194207	47155333	52	29115											
INO80	54617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41279359	41279359	+	Silent	SNP	G	G	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr15:41279359G>A	ENST00000361937.3	-	31	4186	c.3762C>T	c.(3760-3762)ttC>ttT	p.F1254F	INO80_ENST00000401393.3_Silent_p.F1254F|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1254	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.F1254F(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TATCTGGTTTGAAGTTCCCAC	0.438																																																2	Substitution - coding silent(2)	kidney(2)											109	91	97					15																	41279359		2203	4300	6503	SO:0001819	synonymous_variant	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3762C>T	15.37:g.41279359G>A			A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	CCDS10071.1																																																																																				0.438	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		A	41279359	G	A	41279359	2	1	541	1	0	0	0	0	0	0	0	1	7748	1281	45	2		2	INO80	15	41279359	Silent	SNP	G	TCGA-CJ-5676-01A-11D-1534-10		41279359	61252033	53	29116											
DAPK2	23604	broad.mit.edu;hgsc.bcm.edu	37	15	64200798	64200798	+	Splice_Site	SNP	C	C	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr15:64200798C>A	ENST00000457488.1	-	12	1064	c.1034G>T	c.(1033-1035)aGg>aTg	p.R345M	DAPK2_ENST00000261891.3_Splice_Site_p.R345M	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	345					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)	p.R345M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CTCACAGTTCCTCTGGAGAAA	0.587																																																1	Substitution - Missense(1)	kidney(1)											35	27	29					15																	64200798		2202	4299	6501	SO:0001630	splice_region_variant	23604			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.1033-1G>T	15.37:g.64200798C>A			E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	ENST00000457488.1	37	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019223	0.75275	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.69685	-0.42;-0.42	5.26	5.26	0.73747	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000005	T	0.75466	0.3853	L	0.59436	1.845	0.58432	D	0.999991	D	0.63880	0.993	P	0.58391	0.838	T	0.76110	-0.3079	10	0.48119	T	0.1	.	15.5961	0.76583	0.0:1.0:0.0:0.0	.	345	Q9UIK4	DAPK2_HUMAN	M	345	ENSP00000261891:R345M;ENSP00000408277:R345M	ENSP00000261891:R345M	R	-	2	0	DAPK2	61987851	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	3.557000	0.53741	2.458000	0.83093	0.655000	0.94253	AGG		0.587	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326	Missense_Mutation	A	64200798	C	A	64200798	5	1	541	1	0	0	0	0	0	0	1	0	4238	695	24	4	82	4	DAPK2	15	64200798	Splice_Site	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	22921439	64200798	38330594	54	29117											
BTBD12	84464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3641170	3641170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr16:3641170C>T	ENST00000294008.3	-	12	3109	c.2469G>A	c.(2467-2469)tgG>tgA	p.W823*		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	823	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.W823*(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTTCATCTGCCCACATTGACC	0.458								Direct reversal of damage																																								1	Substitution - Nonsense(1)	kidney(1)											168	178	175					16																	3641170		2197	4300	6497	SO:0001587	stop_gained	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2469G>A	16.37:g.3641170C>T	ENSP00000294008:p.Trp823*		Q69YT8|Q8TF15|Q96JP1	Nonsense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	46	12.924030	0.99706	.	.	ENSG00000188827	ENST00000294008	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5351	0.91008	0.0:1.0:0.0:0.0	.	.	.	.	X	823	.	ENSP00000294008:W823X	W	-	3	0	SLX4	3581171	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	5.766000	0.68843	2.619000	0.88677	0.561000	0.74099	TGG		0.458	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		T	3641170	C	T	3641170	4	4	541	1	0	0	0	0	0	1	0	0	1542	624	22	2	3051	2	BTBD12	16	3641170	Nonsense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10		3641170	86713583	55	29118											
ADAD2	161931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84229248	84229248	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr16:84229248G>T	ENST00000315906.5	+	6	1049	c.997G>T	c.(997-999)Gtc>Ttc	p.V333F	RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.V415F|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	333	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.V415F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CAAGCCCCGCGTCTTCCTGCA	0.711																																																1	Substitution - Missense(1)	kidney(1)											23	30	27					16																	84229248		2199	4299	6498	SO:0001583	missense	161931			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.997G>T	16.37:g.84229248G>T	ENSP00000325153:p.Val333Phe		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	6.505	0.461447	0.12342	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.94793	-3.52;-3.52	5.22	1.68	0.24146	Adenosine deaminase/editase (2);	0.269123	0.34110	N	0.004256	D	0.91040	0.7181	M	0.62723	1.935	0.28715	N	0.903335	B;B	0.27656	0.184;0.006	B;B	0.31442	0.13;0.023	D	0.84946	0.0868	10	0.87932	D	0	-29.2739	3.0906	0.06293	0.6164:0.0:0.2064:0.1772	.	333;415	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	F	333;415	ENSP00000325153:V333F;ENSP00000268624:V415F	ENSP00000268624:V415F	V	+	1	0	ADAD2	82786749	0.403000	0.25319	0.279000	0.24732	0.048000	0.14542	0.717000	0.25851	0.069000	0.16605	-0.312000	0.09012	GTC		0.711	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		T	84229248	G	T	84229248	3	4	541	1	0	0	0	0	1	0	0	0	232	1145	40	4	1269	4	ADAD2	16	84229248	Missense_Mutation	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	80588078	84229248	6125505	56	29119											
RARA	5914	hgsc.bcm.edu	37	17	38510748	38510748	+	Silent	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr17:38510748C>T	ENST00000254066.5	+	7	1457	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	RARA_ENST00000425707.3_Silent_p.L237L|RARA_ENST00000394086.3_Silent_p.L350L|RARA_ENST00000394081.3_Silent_p.L329L|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Silent_p.L334L	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	334	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCATCTGCCTCATCTGCGGAG	0.677			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																		Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	0													30	32	32					17																	38510748		2203	4299	6502	SO:0001819	synonymous_variant	5914			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.1002C>T	17.37:g.38510748C>T			B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	ENST00000254066.5	37	CCDS11366.1																																																																																				0.677	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			T	38510748	C	T	38510748	2	4	541	1	0	0	0	0	0	0	0	1	13058	813	29	2		2	RARA	17	38510748	Silent	SNP	C	TCGA-CJ-5676-01A-11D-1534-10		38510748	42684462	57	29120											
TBX4	9496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	59557596	59557596	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr17:59557596C>A	ENST00000240335.1	+	7	982	c.937C>A	c.(937-939)Ctc>Atc	p.L313I	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.L313I	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	313					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L313I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACACTCACAGCTCGCGGAGCC	0.647																																																1	Substitution - Missense(1)	kidney(1)											63	58	60					17																	59557596		2203	4300	6503	SO:0001583	missense	9496			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.937C>A	17.37:g.59557596C>A	ENSP00000240335:p.Leu313Ile		A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	C	6.625	0.483733	0.12581	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.77229	-1.08;-1.08	5.84	4.77	0.60923	.	0.488460	0.24247	N	0.040202	T	0.55970	0.1954	N	0.08118	0	0.22001	N	0.999428	B;B	0.12630	0.0;0.006	B;B	0.10450	0.001;0.005	T	0.40079	-0.9582	9	.	.	.	.	9.0673	0.36471	0.0:0.0897:0.0:0.9103	.	313;313	A5PKU7;P57082	.;TBX4_HUMAN	I	313	ENSP00000377435:L313I;ENSP00000240335:L313I	.	L	+	1	0	TBX4	56912378	1.000000	0.71417	0.996000	0.52242	0.032000	0.12392	3.745000	0.55119	1.088000	0.41272	0.655000	0.94253	CTC		0.647	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		A	59557596	C	A	59557596	3	1	541	1	0	0	0	0	1	0	0	0	15665	797	28	4	963	4	TBX4	17	59557596	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	21046848	59557596	21637614	58	29121											
TEX2	55852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62228234	62228234	+	Silent	SNP	G	G	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr17:62228234G>A	ENST00000583097.1	-	11	3400	c.3228C>T	c.(3226-3228)gaC>gaT	p.D1076D	TEX2_ENST00000581812.1_5'UTR|TEX2_ENST00000258991.3_Silent_p.D1083D|TEX2_ENST00000584379.1_Silent_p.D1076D			Q8IWB9	TEX2_HUMAN	testis expressed 2	1076					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.D1083D(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TCTCTATCCAGTCTGTCACAT	0.438																																																1	Substitution - coding silent(1)	kidney(1)											174	165	168					17																	62228234		2203	4300	6503	SO:0001819	synonymous_variant	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.3228C>T	17.37:g.62228234G>A			Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37																																																																																					0.438	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		A	62228234	G	A	62228234	2	1	541	1	0	0	0	0	0	0	0	1	15786	1020	36	2		2	TEX2	17	62228234	Silent	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	2670638	62228234	18966976	59	29122											
ST6GALNAC2	10610	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74563616	74563616	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr17:74563616C>G	ENST00000225276.5	-	8	1195	c.876G>C	c.(874-876)ttG>ttC	p.L292F	RP11-666A8.9_ENST00000588104.1_RNA	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	292					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.L292F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTGTGTTAATCAACTTTGATT	0.438																																																1	Substitution - Missense(1)	kidney(1)											110	104	106					17																	74563616		2200	4300	6500	SO:0001583	missense	10610			U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"Sialyltransferases"	10867	protein-coding gene	gene with protein product		610137	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)", "sialyltransferase-like 1"	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.876G>C	17.37:g.74563616C>G	ENSP00000225276:p.Leu292Phe		Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096447	0.36952	.	.	ENSG00000070731	ENST00000225276	T	0.31510	1.49	5.42	0.64	0.17752	.	1.039850	0.07616	N	0.926263	T	0.42877	0.1222	M	0.69185	2.1	0.09310	N	1	D	0.58970	0.984	P	0.62435	0.902	T	0.26395	-1.0104	10	0.30854	T	0.27	-7.5924	1.5782	0.02629	0.1303:0.2698:0.3483:0.2515	.	292	Q9UJ37	SIA7B_HUMAN	F	292	ENSP00000225276:L292F	ENSP00000225276:L292F	L	-	3	2	ST6GALNAC2	72075211	0.057000	0.20700	0.021000	0.16686	0.662000	0.39071	-0.330000	0.07925	0.208000	0.20626	-0.157000	0.13467	TTG		0.438	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		G	74563616	C	G	74563616	3	3	541	1	0	0	0	0	1	0	0	0	15229	825	29	4	256	4	ST6GALNAC2	17	74563616	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10	12335382	74563616	6631594	60	29123											
DEFB129	140881	broad.mit.edu;ucsc.edu	37	20	207960	207960	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr20:207960C>T	ENST00000246105.4	+	1	62	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	11					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.L11F(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CTTTGCCAGCCTCATGCTACA	0.483																																																1	Substitution - Missense(1)	kidney(1)											190	159	170					20																	207960		2203	4300	6503	SO:0001583	missense	140881			AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"Defensins, beta"	16218	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 87"	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.31C>T	20.37:g.207960C>T	ENSP00000246105:p.Leu11Phe		Q8NES7	Missense_Mutation	SNP	ENST00000246105.4	37	CCDS12992.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437687	0.62955	.	.	ENSG00000125903	ENST00000246105	T	0.53206	0.63	4.38	3.44	0.39384	.	0.000000	0.45606	D	0.000352	T	0.28300	0.0699	L	0.27053	0.805	0.29083	N	0.882576	P	0.43633	0.813	B	0.33454	0.164	T	0.31503	-0.9941	10	0.87932	D	0	-4.5265	8.5104	0.33213	0.0:0.8959:0.0:0.1041	.	11	Q9H1M3	DB129_HUMAN	F	11	ENSP00000246105:L11F	ENSP00000246105:L11F	L	+	1	0	DEFB129	155960	0.970000	0.33590	1.000000	0.80357	0.949000	0.60115	1.537000	0.36083	1.439000	0.47511	0.650000	0.86243	CTC		0.483	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		T	207960	C	T	207960	3	4	541	1	0	0	0	0	1	0	0	0	4417	681	24	2	33	2	DEFB129	20	207960	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10		207960	62817560	61	29124											
TH1L	51497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	57561823	57561823	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr20:57561823G>A	ENST00000344018.3	+	3	245	c.218G>A	c.(217-219)gGa>gAa	p.G73E	NELFCD_ENST00000602795.1_Missense_Mutation_p.G82E			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	73					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.G73E(1)									TTTCAGGCAGGAGGGTCTCCA	0.483																																																1	Substitution - Missense(1)	kidney(1)											198	195	196					20																	57561823		2203	4300	6503	SO:0001583	missense	51497			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.218G>A	20.37:g.57561823G>A	ENSP00000342300:p.Gly73Glu		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37		.	.	.	.	.	.	.	.	.	.	G	32	5.154590	0.94686	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.84097	0.5397	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.85109	0.0962	9	0.45353	T	0.12	-21.7003	17.4261	0.87526	0.0:0.0:1.0:0.0	.	73;82;73	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	E	73	.	ENSP00000342300:G73E	G	+	2	0	TH1L	56995218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.084000	0.94076	2.538000	0.85594	0.655000	0.94253	GGA		0.483	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		A	57561823	G	A	57561823	3	1	541	1	0	0	0	0	1	0	0	0	15844	1174	41	2	228	2	TH1L	20	57561823	Missense_Mutation	SNP	G	TCGA-CJ-5676-01A-11D-1534-10	57353863	57561823	5463697	62	29125											
POFUT2	23275	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	46689908	46689908	+	Silent	SNP	G	G	A			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr21:46689908G>A	ENST00000349485.5	-	7	884	c.858C>T	c.(856-858)ggC>ggT	p.G286G	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Silent_p.G286G	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	286					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)	p.G286G(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CCAGGTAGGGGCCCCCTAGCG	0.602																																																2	Substitution - coding silent(2)	kidney(2)											43	49	47					21																	46689908		2203	4300	6503	SO:0001819	synonymous_variant	23275			AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.858C>T	21.37:g.46689908G>A			Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	G	0.488	-0.876883	0.02550	.	.	ENSG00000186866	ENST00000451615	.	.	.	4.67	-4.54	0.03452	.	.	.	.	.	T	0.36110	0.0955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40251	-0.9573	4	.	.	.	-9.6324	0.9019	0.01276	0.2611:0.3432:0.164:0.2317	.	.	.	.	S	209	.	.	P	-	1	0	POFUT2	45514336	0.002000	0.14202	0.587000	0.28692	0.006000	0.05464	-1.981000	0.01490	-0.472000	0.06881	-0.932000	0.02703	CCC		0.602	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		A	46689908	G	A	46689908	2	1	541	1	0	0	0	0	0	0	0	1	12186	1190	42	2		2	POFUT2	21	46689908	Silent	SNP	G	TCGA-CJ-5676-01A-11D-1534-10		46689908	1439987	63	29126											
UPB1	51733	broad.mit.edu;hgsc.bcm.edu	37	22	24906778	24906778	+	Silent	SNP	A	A	G			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chr22:24906778A>G	ENST00000326010.5	+	4	770	c.426A>G	c.(424-426)gcA>gcG	p.A142A	UPB1_ENST00000413389.2_Silent_p.A74A	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	142	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.A142A(2)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CTGAGTCAGCAGAGGATGGGC	0.488																																																2	Substitution - coding silent(2)	urinary_tract(1)|kidney(1)											85	80	82					22																	24906778		2203	4300	6503	SO:0001819	synonymous_variant	51733			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.426A>G	22.37:g.24906778A>G			A3KMF8|Q9UIR3	Silent	SNP	ENST00000326010.5	37	CCDS13827.1																																																																																				0.488	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			G	24906778	A	G	24906778	2	3	541	1	0	0	0	0	0	0	0	1	17007	175	7	3		3	UPB1	22	24906778	Silent	SNP	A	TCGA-CJ-5676-01A-11D-1534-10		24906778	26397788	64	29127											
KIF4A	24137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	69622483	69622483	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chrX:69622483C>T	ENST00000374403.3	+	23	2639	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C	KIF4A_ENST00000374388.3_Missense_Mutation_p.R853C	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	853	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.R853C(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACCAAAACAACGCTGGGAGAA	0.468																																																1	Substitution - Missense(1)	kidney(1)											89	72	77					X																	69622483		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2557C>T	X.37:g.69622483C>T	ENSP00000363524:p.Arg853Cys		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495056	0.44352	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.71222	-0.55;-0.53	5.3	4.42	0.53409	.	0.098532	0.45606	N	0.000349	T	0.67468	0.2896	M	0.81341	2.54	0.80722	D	1	B	0.15930	0.015	B	0.04013	0.001	T	0.64795	-0.6323	9	.	.	.	.	7.6465	0.28323	0.1614:0.7523:0.0:0.0862	.	853	O95239	KIF4A_HUMAN	C	853;853;155	ENSP00000363509:R853C;ENSP00000363524:R853C	.	R	+	1	0	KIF4A	69539208	0.999000	0.42202	0.999000	0.59377	0.937000	0.57800	2.689000	0.46993	2.443000	0.82685	0.594000	0.82650	CGC		0.468	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		T	69622483	C	T	69622483	3	4	541	1	0	0	0	0	1	0	0	0	8305	536	19	1	2643	1	KIF4A	23	69622483	Missense_Mutation	SNP	C	TCGA-CJ-5676-01A-11D-1534-10		69622483	85648077	65	29128											
APOOL	139322	hgsc.bcm.edu;ucsc.edu	37	X	84342599	84342602	+	Frame_Shift_Del	DEL	CAAC	CAAC	-	rs183377356		TCGA-CJ-5676-01A-11D-1534-10	TCGA-CJ-5676-11A-01D-1534-10	CAAC	CAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e8aa293-650b-4661-b130-8b70f0949b86	ae90c0a2-1155-4615-a6f4-effe4dd84861	g.chrX:84342599_84342602delCAAC	ENST00000373173.2	+	9	809_812	c.722_725delCAAC	c.(721-726)gcaaccfs	p.AT241fs		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	241						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTATCAGGTGCAACCCAGTTTATG	0.397																																																0																																										SO:0001589	frameshift_variant	139322			AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"chromosome X open reading frame 33", "family with sequence similarity 121A"	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.722_725delCAAC	X.37:g.84342599_84342602delCAAC	ENSP00000362268:p.Ala241fs		Q3KNU7|Q5H9D1	Frame_Shift_Del	DEL	ENST00000373173.2	37	CCDS48138.1																																																																																				0.397	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057385.2	NM_198450		-	84342602	CAAC	-	84342599	7	5	541	1	0	1	0	1	0	0	0	0	814	710	25	0	756	0	APOOL	23	84342599	Frame_Shift_Del	DEL	CAAC	TCGA-CJ-5676-01A-11D-1534-10	14720116	84342599	70927961	66	29129											
C1orf159	54991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1021312	1021312	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:1021312A>C	ENST00000379339.1	-	9	709	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V	C1orf159_ENST00000294576.5_Missense_Mutation_p.F131V|C1orf159_ENST00000448924.1_Missense_Mutation_p.F167V|C1orf159_ENST00000437760.1_Missense_Mutation_p.F131V|C1orf159_ENST00000379320.1_Missense_Mutation_p.F131V|C1orf159_ENST00000421241.2_Missense_Mutation_p.F131V|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379319.1_Missense_Mutation_p.F131V			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	167						integral component of membrane (GO:0016021)		p.F41V(1)				all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TTGAGGTAGAAGAACCCAGCT	0.622																																																1	Substitution - Missense(1)	kidney(1)											67	65	65					1																	1021312		2203	4299	6502	SO:0001583	missense	54991			AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.499T>G	1.37:g.1021312A>C	ENSP00000368644:p.Phe167Val		B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	37		.	.	.	.	.	.	.	.	.	.	A	14.75	2.628030	0.46944	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999;ENST00000437760	.	.	.	4.71	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.72894	2.215	0.44570	D	0.99753	P;D;D;D;P	0.89917	0.869;0.959;1.0;0.959;0.869	P;P;D;P;P	0.87578	0.558;0.74;0.998;0.74;0.558	T	0.71196	-0.4664	9	0.87932	D	0	-14.0547	8.5906	0.33686	0.9052:0.0:0.0948:0.0	.	131;167;131;131;131	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9;E9PBW5	.;CA159_HUMAN;.;.;.	V	167;167;131;131;131;131;131;142;131	.	ENSP00000294576:F131V	F	-	1	0	C1orf159	1011175	1.000000	0.71417	0.996000	0.52242	0.075000	0.17131	5.090000	0.64498	0.651000	0.30788	-0.589000	0.04120	TTC		0.622	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		C	1021312	A	C	1021312	3	2	542	1	0	0	0	0	1	0	0	0	2010	72	3	5	221	5	C1orf159	1	1021312	Missense_Mutation	SNP	A	TCGA-CJ-5677-01A-11D-1534-10		1021312	248229309	1	29130											
CROCC	9696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17264218	17264218	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:17264218A>G	ENST00000375541.5	+	10	1345	c.1276A>G	c.(1276-1278)Aag>Gag	p.K426E	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.K426E(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCTCACTGAGAAGCTTGAGGC	0.602																																																1	Substitution - Missense(1)	kidney(1)											41	32	35					1																	17264218		2203	4300	6503	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1276A>G	1.37:g.17264218A>G	ENSP00000364691:p.Lys426Glu			Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893970	0.33442	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09723	2.95	4.64	4.64	0.57946	.	.	.	.	.	T	0.09468	0.0233	L	0.44542	1.39	0.35043	D	0.759894	P;P;P	0.38370	0.628;0.597;0.597	B;B;B	0.40285	0.318;0.325;0.325	T	0.06092	-1.0846	9	0.07030	T	0.85	.	8.7576	0.34654	0.8092:0.1908:0.0:0.0	.	289;289;426	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	E	426;307	ENSP00000364691:K426E	ENSP00000364691:K426E	K	+	1	0	CROCC	17136805	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.918000	0.56432	1.861000	0.53984	0.459000	0.35465	AAG		0.602	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		G	17264218	A	G	17264218	3	3	542	1	0	0	0	0	1	0	0	0	3895	247	9	3	1314	3	CROCC	1	17264218	Missense_Mutation	SNP	A	TCGA-CJ-5677-01A-11D-1534-10	16242906	17264218	231986403	2	29131											
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19447690	19447690	+	Silent	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:19447690C>T	ENST00000375254.3	-	68	10161	c.10134G>A	c.(10132-10134)gaG>gaA	p.E3378E	UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375226.2_Silent_p.E3354E|UBR4_ENST00000375267.2_Silent_p.E3378E|UBR4_ENST00000375217.2_Silent_p.E3371E	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3378					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E3378E(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACCATCTTTCTCCTTTTCTT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											70	74	73					1																	19447690		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10134G>A	1.37:g.19447690C>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		T	19447690	C	T	19447690	2	4	542	1	0	0	0	0	0	0	0	1	16909	912	32	2		2	UBR4	1	19447690	Silent	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	2183472	19447690	229802931	3	29132											
RPL11	6135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24022342	24022342	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:24022342A>T	ENST00000374550.3	+	5	496	c.451A>T	c.(451-453)Att>Ttt	p.I151F	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	151					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.I151F(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GACAGGCTGCATTGGGGCCAA	0.522																																																1	Substitution - Missense(1)	kidney(1)											73	61	65					1																	24022342		2202	4299	6501	SO:0001583	missense	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.451A>T	1.37:g.24022342A>T	ENSP00000363676:p.Ile151Phe		P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	CCDS238.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289732	0.80914	.	.	ENSG00000142676	ENST00000374550;ENST00000458455	T;T	0.77877	-1.13;-1.13	5.7	5.7	0.88788	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.87172	0.6111	H	0.94658	3.565	0.80722	D	1	B;B	0.25235	0.006;0.121	B;B	0.37480	0.104;0.251	D	0.87356	0.2341	10	0.87932	D	0	-1.2984	15.9514	0.79843	1.0:0.0:0.0:0.0	.	150;151	P62913-2;P62913	.;RL11_HUMAN	F	151;149	ENSP00000363676:I151F;ENSP00000398888:I149F	ENSP00000363676:I151F	I	+	1	0	RPL11	23894929	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.122000	0.94380	2.171000	0.68590	0.482000	0.46254	ATT		0.522	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		T	24022342	A	T	24022342	3	4	542	1	0	0	0	0	1	0	0	0	13563	217	8	5	469	5	RPL11	1	24022342	Missense_Mutation	SNP	A	TCGA-CJ-5677-01A-11D-1534-10	4574652	24022342	225228279	4	29133											
TRIM62	55223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33612891	33612891	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:33612891A>G	ENST00000291416.5	-	5	1548	c.1315T>C	c.(1315-1317)Tac>Cac	p.Y439H	TRIM62_ENST00000543586.1_Missense_Mutation_p.Y318H	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	439	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.Y439H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGGAAGGTGTAGAGCCAGGAC	0.557																																																1	Substitution - Missense(1)	kidney(1)											120	104	109					1																	33612891		2203	4300	6503	SO:0001583	missense	55223			BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1315T>C	1.37:g.33612891A>G	ENSP00000291416:p.Tyr439His		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	CCDS376.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424023	0.83667	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.61859	0.07;0.07	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74523	-0.3637	10	0.49607	T	0.09	.	13.7214	0.62730	1.0:0.0:0.0:0.0	.	439	Q9BVG3	TRI62_HUMAN	H	439;318	ENSP00000291416:Y439H;ENSP00000441173:Y318H	ENSP00000291416:Y439H	Y	-	1	0	TRIM62	33385478	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.133000	0.65898	0.402000	0.26972	TAC		0.557	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		G	33612891	A	G	33612891	3	3	542	1	0	0	0	0	1	0	0	0	16542	420	15	3	116	3	TRIM62	1	33612891	Missense_Mutation	SNP	A	TCGA-CJ-5677-01A-11D-1534-10	9590549	33612891	215637730	5	29134											
MCOLN3	55283	hgsc.bcm.edu;ucsc.edu	37	1	85486913	85486913	+	Frame_Shift_Del	DEL	T	T	-	rs576043238		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:85486913delT	ENST00000370589.2	-	12	1419	c.1367delA	c.(1366-1368)aatfs	p.N456fs	MCOLN3_ENST00000341115.4_Frame_Shift_Del_p.N400fs|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	456					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATCATCTCCATTTATCAGAGA	0.378																																																0													82	84	83					1																	85486913		2203	4300	6503	SO:0001589	frameshift_variant	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1367delA	1.37:g.85486913delT	ENSP00000359621:p.Asn456fs		Q5T4H5|Q5T4H6|Q9NV09	Frame_Shift_Del	DEL	ENST00000370589.2	37	CCDS701.1																																																																																				0.378	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		-	85486913	T	-	85486913	7	5	542	1	0	1	0	1	0	0	0	0	9399	1493	52	0	302	0	MCOLN3	1	85486913	Frame_Shift_Del	DEL	T	TCGA-CJ-5677-01A-11D-1534-10	51874022	85486913	163763708	6	29135											
KCNA2	3737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111146166	111146166	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:111146166G>C	ENST00000485317.1	-	3	1912	c.1239C>G	c.(1237-1239)ttC>ttG	p.F413L	KCNA2_ENST00000440270.1_Missense_Mutation_p.F413L|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.F413L|KCNA2_ENST00000525120.1_5'Flank			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	413					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F413L(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	AGAAGTAGTTGAAATTGGACA	0.493																																					Pancreas(18;568 735 10587 23710 36357)											1	Substitution - Missense(1)	kidney(1)											135	129	131					1																	111146166		2203	4300	6503	SO:0001583	missense	3737			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1239C>G	1.37:g.111146166G>C	ENSP00000433109:p.Phe413Leu		Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	CCDS827.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139670	0.77775	.	.	ENSG00000177301	ENST00000485317;ENST00000440270;ENST00000316361	D;D;D	0.97480	-4.4;-4.4;-4.4	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	M	0.91196	3.185	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	D	0.99808	1.1039	10	0.87932	D	0	.	18.6418	0.91398	0.0:0.0:1.0:0.0	.	413	P16389	KCNA2_HUMAN	L	413	ENSP00000433109:F413L;ENSP00000415257:F413L;ENSP00000314520:F413L	ENSP00000314520:F413L	F	-	3	2	KCNA2	110947689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.697000	0.74603	2.401000	0.81631	0.655000	0.94253	TTC		0.493	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		C	111146166	G	C	111146166	3	2	542	1	0	0	0	0	1	0	0	0	8005	1281	45	4	264	4	KCNA2	1	111146166	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	25659253	111146166	138104455	7	29136											
ATP8B2	57198	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154313463	154313463	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:154313463T>G	ENST00000368489.3	+	13	1267	c.1267T>G	c.(1267-1269)Ttc>Gtc	p.F423V	ATP8B2_ENST00000341822.2_Missense_Mutation_p.F409V|RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	409					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F423V(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGTACATCTTCTCCGACAA	0.552																																																1	Substitution - Missense(1)	kidney(1)											92	88	89					1																	154313463		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1267T>G	1.37:g.154313463T>G	ENSP00000357475:p.Phe423Val		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813630	0.90790	.	.	ENSG00000143515	ENST00000368489;ENST00000341822	T;T	0.78481	-0.18;-1.18	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94637	0.7827	10	0.87932	D	0	.	14.4338	0.67268	0.0:0.0:0.0:1.0	.	423	P98198-3	.	V	423;409	ENSP00000357475:F423V;ENSP00000340448:F409V	ENSP00000340448:F409V	F	+	1	0	ATP8B2	152580087	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.868000	0.87116	2.196000	0.70406	0.459000	0.35465	TTC		0.552	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		G	154313463	T	G	154313463	3	3	542	1	0	0	0	0	1	0	0	0	1195	1609	56	5	1447	5	ATP8B2	1	154313463	Missense_Mutation	SNP	T	TCGA-CJ-5677-01A-11D-1534-10	43167297	154313463	94937158	8	29137											
PBXIP1	57326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154918597	154918597	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:154918597T>G	ENST00000368463.3	-	10	1624	c.1553A>C	c.(1552-1554)aAg>aCg	p.K518T	PBXIP1_ENST00000368465.1_Missense_Mutation_p.K489T|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000539880.1_Missense_Mutation_p.K345T|PBXIP1_ENST00000542459.1_Missense_Mutation_p.K363T	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	518					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.K518T(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTGCCCTCCTTCCACCTTCC	0.592																																																1	Substitution - Missense(1)	kidney(1)											137	141	140					1																	154918597		2203	4300	6503	SO:0001583	missense	57326			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1553A>C	1.37:g.154918597T>G	ENSP00000357448:p.Lys518Thr		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480362	0.44044	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.17691	2.26;2.26;2.33;2.3	4.26	0.355	0.16069	.	1.411040	0.04929	N	0.456518	T	0.13970	0.0338	M	0.62723	1.935	0.09310	N	0.999994	D	0.55385	0.971	P	0.52957	0.714	T	0.16305	-1.0407	10	0.49607	T	0.09	-7.6155	7.6064	0.28105	0.0:0.2824:0.0:0.7176	.	518	Q96AQ6	PBIP1_HUMAN	T	489;518;518;345;294;363	ENSP00000357450:K489T;ENSP00000357448:K518T;ENSP00000440142:K345T;ENSP00000438584:K363T	ENSP00000295523:K518T	K	-	2	0	PBXIP1	153185221	0.000000	0.05858	0.050000	0.19076	0.778000	0.44026	0.181000	0.16880	-0.103000	0.12175	0.260000	0.18958	AAG		0.592	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		G	154918597	T	G	154918597	3	3	542	1	0	0	0	0	1	0	0	0	11498	1609	56	5	650	5	PBXIP1	1	154918597	Missense_Mutation	SNP	T	TCGA-CJ-5677-01A-11D-1534-10	605134	154918597	94332024	9	29138											
HHIPL2	79802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222717069	222717069	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:222717069C>T	ENST00000343410.6	-	2	842	c.784G>A	c.(784-786)Gtg>Atg	p.V262M		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	262					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.V262M(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GTGGTCAACACGATGTTCTTG	0.532																																																1	Substitution - Missense(1)	kidney(1)											103	101	102					1																	222717069		2203	4300	6503	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.784G>A	1.37:g.222717069C>T	ENSP00000342118:p.Val262Met		Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649652	0.87958	.	.	ENSG00000143512	ENST00000343410	T	0.17213	2.29	5.31	5.31	0.75309	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52275	-0.8597	10	0.62326	D	0.03	-22.5254	18.5622	0.91104	0.0:1.0:0.0:0.0	.	262	Q6UWX4	HIPL2_HUMAN	M	262	ENSP00000342118:V262M	ENSP00000342118:V262M	V	-	1	0	HHIPL2	220783692	1.000000	0.71417	0.639000	0.29394	0.994000	0.84299	5.684000	0.68197	2.461000	0.83175	0.467000	0.42956	GTG		0.532	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		T	222717069	C	T	222717069	3	4	542	1	0	0	0	0	1	0	0	0	7096	536	19	1	1422	1	HHIPL2	1	222717069	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	67798472	222717069	26533552	10	29139											
CHRM3	1131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	240070801	240070801	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:240070801G>C	ENST00000255380.4	+	5	829	c.50G>C	c.(49-51)aGc>aCc	p.S17T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	17					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.S17T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCAAACATCAGCTCCTCCTGG	0.512																																																1	Substitution - Missense(1)	kidney(1)											74	70	71					1																	240070801		2203	4300	6503	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.50G>C	1.37:g.240070801G>C	ENSP00000255380:p.Ser17Thr		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088187	0.55968	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.60672	0.17;0.72	5.39	5.39	0.77823	.	0.077827	0.53938	D	0.000047	T	0.51278	0.1665	L	0.40543	1.245	0.42050	D	0.991111	B	0.26635	0.155	B	0.23018	0.043	T	0.49960	-0.8883	10	0.49607	T	0.09	-24.2031	17.705	0.88306	0.0:0.0:1.0:0.0	.	17	P20309	ACM3_HUMAN	T	17	ENSP00000255380:S17T;ENSP00000404764:S17T	ENSP00000255380:S17T	S	+	2	0	CHRM3	238137424	1.000000	0.71417	0.994000	0.49952	0.798000	0.45092	2.459000	0.45023	2.679000	0.91253	0.650000	0.86243	AGC		0.512	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		C	240070801	G	C	240070801	3	2	542	1	0	0	0	0	1	0	0	0	3380	971	34	4	52	4	CHRM3	1	240070801	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	17353732	240070801	9179820	11	29140											
CEP170	9859	broad.mit.edu	37	1	243328076	243328076	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:243328076C>G	ENST00000366542.1	-	13	3237	c.3186G>C	c.(3184-3186)gaG>gaC	p.E1062D	CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.E964D|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.E964D	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1062	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.E1062D(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AATGTACATGCTCATCAGCTG	0.428																																																1	Substitution - Missense(1)	kidney(1)											33	30	31					1																	243328076		1815	4042	5857	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3186G>C	1.37:g.243328076C>G	ENSP00000355500:p.Glu1062Asp		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.62|10.62	1.400254|1.400254	0.25291|0.25291	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008|ENST00000336415	T;T;T|.	0.47177|.	0.87;0.86;0.85|.	5.15|5.15	0.544|0.544	0.17185|0.17185	.|.	0.124834|.	0.64402|.	D|.	0.000010|.	T|T	0.30823|0.30823	0.0777|0.0777	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.69078|.	0.997;0.99;0.99;0.995|.	P;D;D;D|.	0.73380|.	0.89;0.979;0.979;0.98|.	T|T	0.03739|0.03739	-1.1008|-1.1008	10|5	0.19590|.	T|.	0.45|.	-15.5611|-15.5611	9.3365|9.3365	0.38054|0.38054	0.0:0.1883:0.0:0.8117|0.0:0.1883:0.0:0.8117	.|.	1025;964;964;1062|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	D|T	1062;964;964;23|1026	ENSP00000355500:E1062D;ENSP00000355502:E964D;ENSP00000355501:E964D|.	ENSP00000355500:E1062D|.	E|S	-|-	3|2	2|0	CEP170|CEP170	241394699|241394699	1.000000|1.000000	0.71417|0.71417	0.892000|0.892000	0.35008|0.35008	0.985000|0.985000	0.73830|0.73830	0.818000|0.818000	0.27295|0.27295	-0.130000|-0.130000	0.11599|0.11599	0.555000|0.555000	0.69702|0.69702	GAG|AGC		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		G	243328076	C	G	243328076	3	3	542	1	0	0	0	0	1	0	0	0	3252	796	28	4	1630	4	CEP170	1	243328076	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	3257275	243328076	5922545	12	29141											
OR2L8	391190	broad.mit.edu;hgsc.bcm.edu	37	1	248112511	248112511	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:248112511G>A	ENST00000357191.3	+	1	352	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A118T(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCATCTATGGCCTATGATCG	0.448																																																1	Substitution - Missense(1)	kidney(1)											304	255	272					1																	248112511		2203	4300	6503	SO:0001583	missense	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.352G>A	1.37:g.248112511G>A	ENSP00000349719:p.Ala118Thr		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.030535	0.54790	.	.	ENSG00000196936	ENST00000357191	T	0.54071	0.59	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31747	U	0.007134	T	0.65943	0.2740	M	0.90369	3.11	0.33401	D	0.577321	D	0.54601	0.967	P	0.53224	0.721	T	0.76677	-0.2871	10	0.87932	D	0	.	8.2283	0.31582	0.0:0.0:0.7628:0.2372	.	118	Q8NGY9	OR2L8_HUMAN	T	118	ENSP00000349719:A118T	ENSP00000349719:A118T	A	+	1	0	OR2L8	246179134	1.000000	0.71417	0.132000	0.22025	0.059000	0.15707	0.814000	0.27239	0.905000	0.36596	0.479000	0.44913	GCC		0.448	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			A	248112511	G	A	248112511	3	1	542	1	0	0	0	0	1	0	0	0	11011	1203	42	2	354	2	OR2L8	1	248112511	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	4784435	248112511	1138110	13	29142											
OR2L13	284521	broad.mit.edu;hgsc.bcm.edu	37	1	248263038	248263038	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr1:248263038C>T	ENST00000358120.2	+	2	506	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Missense_Mutation_p.R121C			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R121S(2)|p.R121C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GGCCTACGACCGTTATTTGGC	0.498																																																4	Substitution - Missense(4)	lung(2)|kidney(2)											219	205	210					1																	248263038		2203	4300	6503	SO:0001583	missense	284521			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.361C>T	1.37:g.248263038C>T	ENSP00000350836:p.Arg121Cys		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921688	0.17982	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.77358	-1.09;-1.09	4.07	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000732	D	0.83184	0.5199	M	0.85373	2.75	0.37111	D	0.900355	D	0.69078	0.997	P	0.53185	0.72	D	0.85394	0.1127	10	0.72032	D	0.01	.	9.7554	0.40500	0.0:0.8268:0.0:0.1732	.	121	Q8N349	OR2LD_HUMAN	C	121	ENSP00000355434:R121C;ENSP00000350836:R121C	ENSP00000350836:R121C	R	+	1	0	OR2L13	246329661	0.014000	0.17966	0.065000	0.19835	0.206000	0.24218	-0.001000	0.12947	0.370000	0.24538	0.650000	0.86243	CGT		0.498	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		T	248263038	C	T	248263038	3	4	542	1	0	0	0	0	1	0	0	0	11008	652	23	1	363	1	OR2L13	1	248263038	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	150527	248263038	987583	14	29143											
LTBP1	4052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	33534505	33534505	+	Silent	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:33534505C>T	ENST00000404816.2	+	23	3839	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I	LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Silent_p.I836I|LTBP1_ENST00000402934.1_Silent_p.I783I|LTBP1_ENST00000418533.2_Silent_p.I836I|LTBP1_ENST00000390003.4_Silent_p.I837I|LTBP1_ENST00000354476.3_Silent_p.I1163I|LTBP1_ENST00000404525.1_Silent_p.I783I|LTBP1_ENST00000272273.5_Silent_p.I102I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1162	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.I1163I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTTTAGATATCAATGAATGCT	0.338																																																1	Substitution - coding silent(1)	kidney(1)											87	83	84					2																	33534505		2203	4300	6503	SO:0001819	synonymous_variant	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3486C>T	2.37:g.33534505C>T			A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	3.555	-0.090864	0.07053	.	.	ENSG00000049323	ENST00000415140	.	.	.	5.64	2.87	0.33458	.	.	.	.	.	T	0.46698	0.1406	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34054	-0.9844	4	.	.	.	.	3.4975	0.07661	0.3228:0.4547:0.0:0.2225	.	.	.	.	L	124	.	.	S	+	2	0	LTBP1	33388009	1.000000	0.71417	0.998000	0.56505	0.379000	0.30106	0.694000	0.25512	0.737000	0.32582	0.655000	0.94253	TCA		0.338	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		T	33534505	C	T	33534505	2	4	542	1	0	0	0	0	0	0	0	1	9075	816	29	2		2	LTBP1	2	33534505	Silent	SNP	C	TCGA-CJ-5677-01A-11D-1534-10		33534505	209664868	15	29144											
AFF3	3899	hgsc.bcm.edu;ucsc.edu	37	2	100210705	100210705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:100210705delT	ENST00000409236.2	-	13	1530	c.1418delA	c.(1417-1419)aacfs	p.N473fs	AFF3_ENST00000317233.4_Frame_Shift_Del_p.N473fs|AFF3_ENST00000409579.1_Frame_Shift_Del_p.N498fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.N498fs			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	473					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATTAACTTTGTTTAGCCATTT	0.463																																																0													141	163	156					2																	100210705		2173	4278	6451	SO:0001589	frameshift_variant	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1418delA	2.37:g.100210705delT	ENSP00000387207:p.Asn473fs		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Frame_Shift_Del	DEL	ENST00000409236.2	37	CCDS42723.1																																																																																				0.463	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		-	100210705	T	-	100210705	7	5	542	1	0	1	0	1	0	0	0	0	358	1725	60	0	2306	0	AFF3	2	100210705	Frame_Shift_Del	DEL	T	TCGA-CJ-5677-01A-11D-1534-10	66676200	100210705	142988668	16	29145											
WDR33	55339	hgsc.bcm.edu;ucsc.edu	37	2	128480195	128480195	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:128480195delA	ENST00000322313.4	-	14	1646	c.1488delT	c.(1486-1488)tatfs	p.Y496fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	496					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGGTTTTGCATAAGGAACTT	0.408																																																0													230	213	219					2																	128480195		2203	4300	6503	SO:0001589	frameshift_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1488delT	2.37:g.128480195delA	ENSP00000325377:p.Tyr496fs		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Del	DEL	ENST00000322313.4	37	CCDS2150.1																																																																																				0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		-	128480195	A	-	128480195	7	5	542	1	0	1	0	1	0	0	0	0	17292	224	8	0	2558	0	WDR33	2	128480195	Frame_Shift_Del	DEL	A	TCGA-CJ-5677-01A-11D-1534-10	28269490	128480195	114719178	17	29146											
ALS2CR8	79800	broad.mit.edu;ucsc.edu	37	2	203818776	203818776	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:203818776T>G	ENST00000402905.3	+	6	797	c.476T>G	c.(475-477)gTg>gGg	p.V159G	CARF_ENST00000444724.1_Missense_Mutation_p.V159G|CARF_ENST00000428585.1_Missense_Mutation_p.V83G|CARF_ENST00000434998.1_Missense_Mutation_p.V57G|CARF_ENST00000545262.1_Missense_Mutation_p.V83G|CARF_ENST00000320443.8_Missense_Mutation_p.V159G|CARF_ENST00000438828.2_Missense_Mutation_p.V159G|CARF_ENST00000456821.2_Missense_Mutation_p.V147G|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Missense_Mutation_p.V71G|CARF_ENST00000414439.1_Missense_Mutation_p.V57G|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	159					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V159G(1)									ACTGTAAGAGTGGATACTCTA	0.403																																																1	Substitution - Missense(1)	kidney(1)											98	97	98					2																	203818776		1856	4108	5964	SO:0001583	missense	79800			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.476T>G	2.37:g.203818776T>G	ENSP00000384006:p.Val159Gly		B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	T	0.856	-0.736968	0.03111	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000456821;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	4.62	2.14	0.27477	.	0.602094	0.15102	N	0.280498	T	0.39384	0.1076	L	0.52364	1.645	0.21604	N	0.999628	B;B;D;B;B	0.55385	0.002;0.002;0.971;0.004;0.004	B;B;P;B;B	0.55455	0.006;0.006;0.776;0.006;0.006	T	0.17899	-1.0354	9	0.22109	T	0.4	0.0162	5.318	0.15866	0.0:0.0941:0.3485:0.5573	.	71;83;159;159;159	B4DIA7;G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;.;AL2S8_HUMAN;.	G	159;159;57;83;71;83;147;57;159;159	.	ENSP00000316224:V159G	V	+	2	0	ALS2CR8	203527021	0.999000	0.42202	0.003000	0.11579	0.005000	0.04900	1.052000	0.30429	0.138000	0.18790	0.533000	0.62120	GTG		0.403	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		G	203818776	T	G	203818776	3	3	542	1	0	0	0	0	1	0	0	0	555	1696	59	5	490	5	ALS2CR8	2	203818776	Missense_Mutation	SNP	T	TCGA-CJ-5677-01A-11D-1534-10	75338581	203818776	39380597	18	29147											
ZFAND2B	130617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220073018	220073018	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:220073018A>G	ENST00000289528.5	+	5	670	c.475A>G	c.(475-477)Agc>Ggc	p.S159G	ZFAND2B_ENST00000409336.1_Missense_Mutation_p.S159G|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.S159G|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.S159G|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.S159G|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.S159G|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.S159G	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	159						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)	p.S159G(1)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCTACAAGCACTGTCCC	0.547																																																1	Substitution - Missense(1)	kidney(1)											97	78	84					2																	220073018		2203	4300	6503	SO:0001583	missense	130617			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.475A>G	2.37:g.220073018A>G	ENSP00000289528:p.Ser159Gly		Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597171	0.28445	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T;T;T	0.47528	0.87;0.87;0.86;0.84;0.84;0.86;0.87;0.84	5.18	4.0	0.46444	.	0.413807	0.27739	N	0.018043	T	0.33206	0.0855	L	0.38175	1.15	0.09310	N	1	B;B;B	0.24426	0.103;0.0;0.009	B;B;B	0.15484	0.013;0.001;0.007	T	0.12016	-1.0564	10	0.36615	T	0.2	-15.3354	7.7542	0.28915	0.9048:0.0:0.0952:0.0	.	50;159;159	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	G	159	ENSP00000386824:S159G;ENSP00000386399:S159G;ENSP00000289528:S159G;ENSP00000409931:S159G;ENSP00000387179:S159G;ENSP00000386898:S159G;ENSP00000386370:S159G;ENSP00000411334:S159G	ENSP00000289528:S159G	S	+	1	0	ZFAND2B	219781262	0.006000	0.16342	0.519000	0.27824	0.559000	0.35586	0.732000	0.26072	2.165000	0.68154	0.533000	0.62120	AGC		0.547	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		G	220073018	A	G	220073018	3	3	542	1	0	0	0	0	1	0	0	0	17633	72	3	3	493	3	ZFAND2B	2	220073018	Missense_Mutation	SNP	A	TCGA-CJ-5677-01A-11D-1534-10	16254242	220073018	23126355	19	29148											
HJURP	55355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234749785	234749785	+	Silent	SNP	A	A	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr2:234749785A>G	ENST00000411486.2	-	8	1706	c.1641T>C	c.(1639-1641)aaT>aaC	p.N547N	HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000441687.1_Silent_p.N462N|HJURP_ENST00000432087.1_Silent_p.N493N	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	547					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.N547N(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTCCAGAACTATTTCCCTGAA	0.483																																																1	Substitution - coding silent(1)	kidney(1)											121	125	124					2																	234749785		2203	4300	6503	SO:0001819	synonymous_variant	55355				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1641T>C	2.37:g.234749785A>G			A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Silent	SNP	ENST00000411486.2	37	CCDS33406.1																																																																																				0.483	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		G	234749785	A	G	234749785	2	3	542	1	0	0	0	0	0	0	0	1	7191	446	16	3		3	HJURP	2	234749785	Silent	SNP	A	TCGA-CJ-5677-01A-11D-1534-10	14676767	234749785	8449588	20	29149											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191479	10191479	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr3:10191479C>G	ENST00000256474.2	+	3	1312	c.472C>G	c.(472-474)Ctg>Gtg	p.L158V	VHL_ENST00000345392.2_Missense_Mutation_p.L117V|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158V(12)|p.V155fs*15(2)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158fs*1(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGTGTATACTCTGAAAGAGCG	0.498		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(12)|Deletion - Frameshift(7)|Deletion - In frame(3)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(23)|soft_tissue(1)	GRCh37	CM941380	VHL	M							89	81	84					3																	10191479		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.472C>G	3.37:g.10191479C>G	ENSP00000256474:p.Leu158Val		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090345	0.55968	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99830	-7.01;-7.01	4.86	3.07	0.35406	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000003	D	0.99680	0.9880	M	0.75777	2.31	0.39234	D	0.963723	D;D	0.76494	0.999;0.99	D;D	0.80764	0.994;0.992	D	0.98323	1.0529	10	0.87932	D	0	-5.6982	9.2424	0.37504	0.0:0.8287:0.0:0.1713	.	117;158	P40337-2;P40337	.;VHL_HUMAN	V	158;117;76	ENSP00000256474:L158V;ENSP00000344757:L117V	ENSP00000256474:L158V	L	+	1	2	VHL	10166479	0.995000	0.38212	0.989000	0.46669	0.613000	0.37349	1.729000	0.38115	0.765000	0.33221	0.655000	0.94253	CTG		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10191479	C	G	10191479	3	3	542	1	0	0	0	0	1	0	0	0	17167	912	32	4	482	4	VHL	3	10191479	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10		10191479	187830951	21	29150											
COL7A1	1294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48626394	48626394	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr3:48626394C>A	ENST00000328333.8	-	18	2456	c.2349G>T	c.(2347-2349)caG>caT	p.Q783H	COL7A1_ENST00000454817.1_Missense_Mutation_p.Q783H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	783	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q783H(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATTGAGGATCTGCAGCCTCG	0.602																																																1	Substitution - Missense(1)	kidney(1)											81	77	79					3																	48626394		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2349G>T	3.37:g.48626394C>A	ENSP00000332371:p.Gln783His		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	7.840	0.721630	0.15372	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.57107	0.42;0.42	5.08	2.22	0.28083	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.43110	D	0.000619	T	0.56529	0.1991	L	0.31664	0.95	0.32453	N	0.545169	D	0.69078	0.997	D	0.85130	0.997	T	0.63346	-0.6658	10	0.72032	D	0.01	.	8.7304	0.34496	0.0:0.7174:0.0:0.2826	.	783	Q02388	CO7A1_HUMAN	H	783	ENSP00000332371:Q783H;ENSP00000412569:Q783H	ENSP00000332371:Q783H	Q	-	3	2	COL7A1	48601398	0.477000	0.25909	1.000000	0.80357	0.700000	0.40528	0.280000	0.18790	0.256000	0.21614	-1.598000	0.00824	CAG		0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		A	48626394	C	A	48626394	3	1	542	1	0	0	0	0	1	0	0	0	3706	912	32	4	6889	4	COL7A1	3	48626394	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	38434915	48626394	149396036	22	29151											
KIAA1524	57650	broad.mit.edu;ucsc.edu	37	3	108281998	108281998	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr3:108281998G>A	ENST00000295746.8	-	13	1685	c.1609C>T	c.(1609-1611)Cca>Tca	p.P537S	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.P378S	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	537					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P537S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTGGCAGTGGAGCAGCCTCC	0.403																																																1	Substitution - Missense(1)	kidney(1)											148	151	150					3																	108281998		2203	4300	6503	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1609C>T	3.37:g.108281998G>A	ENSP00000295746:p.Pro537Ser		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739288	0.89573	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.70399	-0.48;-0.48	5.62	5.62	0.85841	.	0.048819	0.85682	D	0.000000	D	0.82870	0.5131	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.82102	-0.0623	10	0.48119	T	0.1	-11.6132	19.6484	0.95791	0.0:0.0:1.0:0.0	.	537	Q8TCG1	CIP2A_HUMAN	S	378;537	ENSP00000419487:P378S;ENSP00000295746:P537S	ENSP00000295746:P537S	P	-	1	0	KIAA1524	109764688	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.852000	0.75430	2.646000	0.89796	0.557000	0.71058	CCA		0.403	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		A	108281998	G	A	108281998	3	1	542	1	0	0	0	0	1	0	0	0	8241	1174	41	2	1144	2	KIAA1524	3	108281998	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	59655604	108281998	89740432	23	29152											
CDV3	55573	broad.mit.edu;ucsc.edu	37	3	133302927	133302927	+	Silent	SNP	T	T	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr3:133302927T>C	ENST00000264993.3	+	3	714	c.399T>C	c.(397-399)ggT>ggC	p.G133G	CDV3_ENST00000420115.2_Silent_p.G31G|CDV3_ENST00000508481.1_Silent_p.G31G|CDV3_ENST00000515421.1_Silent_p.G31G|CDV3_ENST00000511392.1_Silent_p.G31G|CDV3_ENST00000431519.2_Silent_p.G133G	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	133	Poly-Gly.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.G133G(2)		kidney(3)|lung(1)|prostate(1)	5						GTGGTGGAGGTATGGAAAAAT	0.418																																																2	Substitution - coding silent(2)	kidney(2)											137	127	131					3																	133302927		2203	4300	6503	SO:0001819	synonymous_variant	55573			AK096865	CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1	3q22.1	2008-02-05			ENSG00000091527	ENSG00000091527			26928	protein-coding gene	gene with protein product						10497265	Standard	NM_017548		Approved	H41	uc003epq.3	Q9UKY7	OTTHUMG00000159764	ENST00000264993.3:c.399T>C	3.37:g.133302927T>C			B3KUC2|Q96IP9	Silent	SNP	ENST00000264993.3	37	CCDS3079.1	.	.	.	.	.	.	.	.	.	.	T	8.690	0.907146	0.17833	.	.	ENSG00000091527	ENST00000503932	.	.	.	5.7	-0.014	0.13982	.	.	.	.	.	T	0.41719	0.1171	.	.	.	0.51012	D	0.999904	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	.	1.6082	0.02688	0.1367:0.3198:0.1318:0.4117	.	.	.	.	A	87	.	.	V	+	2	0	CDV3	134785617	0.419000	0.25449	0.186000	0.23195	0.974000	0.67602	0.132000	0.15891	0.013000	0.14918	0.528000	0.53228	GTA		0.418	CDV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357203.1	NM_017548		C	133302927	T	C	133302927	2	2	542	1	0	0	0	0	0	0	0	1	3183	1625	57	3		3	CDV3	3	133302927	Silent	SNP	T	TCGA-CJ-5677-01A-11D-1534-10	25020929	133302927	64719503	24	29153											
RFC1	5981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	39301920	39301920	+	Missense_Mutation	SNP	C	C	T	rs140065280		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr4:39301920C>T	ENST00000381897.1	-	20	2786	c.2653G>A	c.(2653-2655)Gtc>Atc	p.V885I	RFC1_ENST00000349703.2_Missense_Mutation_p.V884I|RNU6-32P_ENST00000383948.1_RNA	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	885					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.V885I(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTTTCCTGGACGAAGAGGGGT	0.483																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											1	Substitution - Missense(1)	kidney(1)						C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	76	80	78		2653,2650	5.2	1	4	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RFC1	NM_001204747.1,NM_002913.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	885/1149,884/1148	39301920	1,13005	2203	4300	6503	SO:0001583	missense	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2653G>A	4.37:g.39301920C>T	ENSP00000371321:p.Val885Ile		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976128	0.74360	0.0	1.16E-4	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.47869	0.83;0.83	6.07	5.24	0.73138	DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.060515	0.64402	D	0.000003	T	0.57873	0.2083	L	0.33485	1.01	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.76071	0.89;0.987	T	0.54351	-0.8307	10	0.26408	T	0.33	-16.3333	17.0257	0.86446	0.1284:0.8716:0.0:0.0	.	885;884	P35251;P35251-2	RFC1_HUMAN;.	I	885;884	ENSP00000371321:V885I;ENSP00000261424:V884I	ENSP00000261424:V884I	V	-	1	0	RFC1	38978315	1.000000	0.71417	0.998000	0.56505	0.310000	0.27922	6.063000	0.71162	1.590000	0.49995	-0.127000	0.14921	GTC		0.483	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		T	39301920	C	T	39301920	3	4	542	1	0	0	0	0	1	0	0	0	13250	536	19	1	817	1	RFC1	4	39301920	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10		39301920	151852356	25	29154											
PRMT10	90826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	148578942	148578942	+	Splice_Site	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr4:148578942C>T	ENST00000322396.6	-	8	1573		c.e8+1		PRMT10_ENST00000541232.1_Splice_Site|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN								cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ACAAGACCTACCTGCAAGGTC	0.393																																																1	Unknown(1)	kidney(1)											73	64	67					4																	148578942		2203	4300	6503	SO:0001630	splice_region_variant	90826																														ENST00000322396.6:c.1330+1G>A	4.37:g.148578942C>T			A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Splice_Site	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925075	0.52759	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRMT10	148798392	1.000000	0.71417	0.999000	0.59377	0.396000	0.30629	6.788000	0.75105	2.639000	0.89480	0.655000	0.94253	.		0.393	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		Intron	T	148578942	C	T	148578942	5	4	542	1	0	0	0	0	0	0	1	0	12541	521	18	2	1226	2	PRMT10	4	148578942	Splice_Site	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	109277022	148578942	42575334	26	29155											
TKTL2	84076	hgsc.bcm.edu;ucsc.edu	37	4	164393620	164393620	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr4:164393620delC	ENST00000280605.3	-	1	1427	c.1267delG	c.(1267-1269)gtafs	p.V423fs		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	423						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.V423I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAGTGGATACCCCACAGTGG	0.478																																																1	Substitution - Missense(1)	large_intestine(1)											48	49	49					4																	164393620		2203	4300	6503	SO:0001589	frameshift_variant	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1267delG	4.37:g.164393620delC	ENSP00000280605:p.Val423fs		A4FVB4|Q8NCT0|Q96M82	Frame_Shift_Del	DEL	ENST00000280605.3	37	CCDS3805.1																																																																																				0.478	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		-	164393620	C	-	164393620	7	5	542	1	0	1	0	1	0	0	0	0	15941	507	18	0	617	0	TKTL2	4	164393620	Frame_Shift_Del	DEL	C	TCGA-CJ-5677-01A-11D-1534-10	15814678	164393620	26760656	27	29156											
PDZD2	23037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32089797	32089797	+	Silent	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr5:32089797C>T	ENST00000438447.1	+	20	6631	c.6243C>T	c.(6241-6243)agC>agT	p.S2081S	PDZD2_ENST00000282493.3_Silent_p.S2081S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2081					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.S2081S(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TAATGGCCAGCGATCGCCTCG	0.552																																																1	Substitution - coding silent(1)	kidney(1)											69	67	68					5																	32089797		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6243C>T	5.37:g.32089797C>T			Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																				0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32089797	C	T	32089797	2	4	542	1	0	0	0	0	0	0	0	1	11703	767	27	1		1	PDZD2	5	32089797	Silent	SNP	C	TCGA-CJ-5677-01A-11D-1534-10		32089797	148825463	28	29157											
PAPD4	167153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	78936786	78936786	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr5:78936786C>T	ENST00000296783.3	+	6	877	c.578C>T	c.(577-579)cCa>cTa	p.P193L	PAPD4_ENST00000428308.2_Missense_Mutation_p.P193L|PAPD4_ENST00000423041.2_Missense_Mutation_p.P193L|PAPD4_ENST00000453514.1_Missense_Mutation_p.P193L|PAPD4_ENST00000504233.1_Missense_Mutation_p.P193L			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	193					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.P193L(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CTGTTATTTCCACGTATGTTT	0.333																																																1	Substitution - Missense(1)	kidney(1)											72	71	71					5																	78936786		2203	4300	6503	SO:0001583	missense	167153			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.578C>T	5.37:g.78936786C>T	ENSP00000296783:p.Pro193Leu		Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880063	0.91740	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.77	5.77	0.91146	.	0.103999	0.64402	D	0.000003	T	0.65688	0.2715	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.987;0.991;0.963	T	0.67321	-0.5700	10	0.87932	D	0	-9.2228	19.9947	0.97381	0.0:1.0:0.0:0.0	.	193;193;193	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	L	193	ENSP00000397563:P193L;ENSP00000393412:P193L;ENSP00000421966:P193L;ENSP00000396861:P193L;ENSP00000296783:P193L	ENSP00000296783:P193L	P	+	2	0	PAPD4	78972542	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.205000	0.77881	2.736000	0.93811	0.305000	0.20034	CCA		0.333	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		T	78936786	C	T	78936786	3	4	542	1	0	0	0	0	1	0	0	0	11426	594	21	2	592	2	PAPD4	5	78936786	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	46846989	78936786	101978474	29	29158											
ZNF608	57507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	123983986	123983986	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr5:123983986C>T	ENST00000306315.5	-	4	2526	c.2091G>A	c.(2089-2091)atG>atA	p.M697I	ZNF608_ENST00000504926.1_Missense_Mutation_p.M270I	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	697							metal ion binding (GO:0046872)	p.M697I(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCAGTTTAGGCATCTCAGCAG	0.438																																																1	Substitution - Missense(1)	kidney(1)											89	89	89					5																	123983986		2203	4300	6503	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2091G>A	5.37:g.123983986C>T	ENSP00000307746:p.Met697Ile		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270576	0.80469	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.46451	0.88;0.87	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.56769	1.78	0.80722	D	1	D	0.62365	0.991	P	0.56751	0.805	T	0.40924	-0.9537	10	0.13853	T	0.58	-22.9826	20.2315	0.98350	0.0:1.0:0.0:0.0	.	697	Q9ULD9	ZN608_HUMAN	I	270;697;697;697	ENSP00000427657:M270I;ENSP00000307746:M697I	ENSP00000307746:M697I	M	-	3	0	ZNF608	124011885	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.802000	0.85969	2.784000	0.95788	0.551000	0.68910	ATG		0.438	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		T	123983986	C	T	123983986	3	4	542	1	0	0	0	0	1	0	0	0	18039	710	25	2	2471	2	ZNF608	5	123983986	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	45047200	123983986	56931274	30	29159											
PHAX	51808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	125939331	125939331	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr5:125939331C>T	ENST00000297540.4	+	2	861	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	56	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)	p.H56Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						ACCAGTATCACATTATCGAGC	0.413																																																1	Substitution - Missense(1)	kidney(1)											141	144	143					5																	125939331		2203	4300	6503	SO:0001583	missense	51808			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.166C>T	5.37:g.125939331C>T	ENSP00000297540:p.His56Tyr		Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	C	0.707	-0.788520	0.02884	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.21932	1.98	5.74	2.66	0.31614	.	0.332897	0.33477	N	0.004867	T	0.14227	0.0344	L	0.36672	1.1	0.24747	N	0.993003	P	0.39216	0.664	B	0.33392	0.163	T	0.10428	-1.0630	10	0.45353	T	0.12	-2.3505	10.1047	0.42526	0.2548:0.6756:0.0:0.0696	.	56	Q9H814	PHAX_HUMAN	Y	56	ENSP00000297540:H56Y	ENSP00000297540:H56Y	H	+	1	0	PHAX	125967230	0.050000	0.20438	0.863000	0.33907	0.163000	0.22366	0.828000	0.27435	0.757000	0.33036	0.655000	0.94253	CAT		0.413	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		T	125939331	C	T	125939331	3	4	542	1	0	0	0	0	1	0	0	0	11815	478	17	2	172	2	PHAX	5	125939331	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	1955345	125939331	54975929	31	29160											
RGL2	5863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33260019	33260019	+	Missense_Mutation	SNP	G	G	T	rs200959026		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:33260019G>T	ENST00000497454.1	-	18	2689	c.2194C>A	c.(2194-2196)Cag>Aag	p.Q732K	WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000463584.1_Intron|WDR46_ENST00000477718.1_5'Flank|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	732	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.Q732K(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTTCGCCGCTGCCGCAGGAGG	0.582																																																1	Substitution - Missense(1)	kidney(1)											86	89	88					6																	33260019		2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2194C>A	6.37:g.33260019G>T	ENSP00000420211:p.Gln732Lys		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	CCDS4774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.606|3.606	-0.080573|-0.080573	0.07141|0.07141	.|.	.|.	ENSG00000237441|ENSG00000237441	ENST00000421215|ENST00000497454	.|T	.|0.15139	.|2.45	5.64|5.64	4.76|4.76	0.60689|0.60689	.|Ras-association (3);	.|0.373125	.|0.27591	.|N	.|0.018690	.|T	.|0.01765	.|0.0056	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.39292	.|-0.9621	.|10	.|0.02654	.|T	.|1	.|.	11.983|11.983	0.53131|0.53131	0.0:0.0:0.8269:0.1731|0.0:0.0:0.8269:0.1731	.|.	.|732	.|O15211	.|RGL2_HUMAN	.|K	-1|732	.|ENSP00000420211:Q732K	.|ENSP00000420211:Q732K	.|Q	-|-	.|1	.|0	RGL2|RGL2	33367997|33367997	0.894000|0.894000	0.30519|0.30519	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.482000|2.482000	0.45224|0.45224	1.358000|1.358000	0.45922|0.45922	0.643000|0.643000	0.83706|0.83706	.|CAG		0.582	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			T	33260019	G	T	33260019	3	4	542	1	0	0	0	0	1	0	0	0	13283	1328	46	4	143	4	RGL2	6	33260019	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10		33260019	137855048	32	29161											
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43304999	43304999	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:43304999C>T	ENST00000361428.2	-	10	6814	c.6737G>A	c.(6736-6738)aGg>aAg	p.R2246K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2246					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R2246K(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TACCTGCTCCCTTGGAGGGGA	0.498																																																1	Substitution - Missense(1)	kidney(1)											106	94	98					6																	43304999		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6737G>A	6.37:g.43304999C>T	ENSP00000354964:p.Arg2246Lys		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	1.573	-0.533632	0.04082	.	.	ENSG00000171467	ENST00000361428	T	0.11277	2.79	5.93	1.58	0.23477	.	0.411820	0.23894	N	0.043520	T	0.01558	0.0050	N	0.20986	0.625	0.09310	N	0.999999	B	0.16603	0.018	B	0.16722	0.016	T	0.48127	-0.9062	10	0.18276	T	0.48	-1.7191	4.147	0.10220	0.161:0.4826:0.0:0.3565	.	2246	Q5VUA4	ZN318_HUMAN	K	2246	ENSP00000354964:R2246K	ENSP00000354964:R2246K	R	-	2	0	ZNF318	43412977	0.002000	0.14202	0.062000	0.19696	0.261000	0.26267	0.095000	0.15127	0.124000	0.18369	-0.797000	0.03246	AGG		0.498	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		T	43304999	C	T	43304999	3	4	542	1	0	0	0	0	1	0	0	0	17841	681	24	2	106	2	ZNF318	6	43304999	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	10044980	43304999	127810068	33	29162											
CLIC5	53405	hgsc.bcm.edu;ucsc.edu	37	6	45882075	45882076	+	Frame_Shift_Del	DEL	TC	TC	-	rs148377014	byFrequency	TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:45882075_45882076delTC	ENST00000185206.6	-	5	1106_1107	c.954_955delGA	c.(952-957)gagattfs	p.EI318fs	CLIC5_ENST00000339561.6_Frame_Shift_Del_p.EI159fs|CLIC5_ENST00000544153.1_Frame_Shift_Del_p.EI159fs|CLIC5_ENST00000486570.1_5'UTR	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	318	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TTGGCGTCAATCTCCTCTGGTA	0.52																																																0																																										SO:0001589	frameshift_variant	53405			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.954_955delGA	6.37:g.45882077_45882078delTC	ENSP00000185206:p.Glu318fs		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Frame_Shift_Del	DEL	ENST00000185206.6	37	CCDS47438.1																																																																																				0.52	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			-	45882076	TC	-	45882075	7	5	542	1	0	1	0	1	0	0	0	0	3531	1435	50	0	285	0	CLIC5	6	45882075	Frame_Shift_Del	DEL	TC	TCGA-CJ-5677-01A-11D-1534-10	2577076	45882075	125232992	34	29163											
DEFB114	245928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	49928062	49928062	+	Silent	SNP	G	G	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:49928062G>T	ENST00000322066.3	-	2	152	c.153C>A	c.(151-153)tcC>tcA	p.S51S		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	51					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)	p.S51S(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTCTTGGTAAGGAACATATGT	0.383																																																1	Substitution - coding silent(1)	kidney(1)											120	109	113					6																	49928062		2203	4299	6502	SO:0001819	synonymous_variant	245928			DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"Defensins, beta"	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.153C>A	6.37:g.49928062G>T			Q8NES9	Silent	SNP	ENST00000322066.3	37	CCDS34474.1																																																																																				0.383	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499		T	49928062	G	T	49928062	2	4	542	1	0	0	0	0	0	0	0	1	4405	987	35	4		4	DEFB114	6	49928062	Silent	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	4045987	49928062	121187005	35	29164											
DST	667	hgsc.bcm.edu;ucsc.edu	37	6	56484970	56484971	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:56484970_56484971delAG	ENST00000370765.6	-	23	3968_3969	c.3861_3862delCT	c.(3859-3864)ctcttgfs	p.LL1287fs	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	744					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAGCTTCAAGAGTTCTTCCT	0.322																																																0																																										SO:0001589	frameshift_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.3861_3862delCT	6.37:g.56484972_56484973delAG	ENSP00000359801:p.Leu1287fs		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000370765.6	37	CCDS4959.1																																																																																				0.322	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		-	56484971	AG	-	56484970	7	5	542	1	0	1	0	1	0	0	0	0	4785	69	3	0	16541	0	DST	6	56484970	Frame_Shift_Del	DEL	AG	TCGA-CJ-5677-01A-11D-1534-10	6556908	56484970	114630097	36	29165											
FAM135A	57579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	71234370	71234370	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:71234370G>C	ENST00000418814.2	+	15	2197	c.1583G>C	c.(1582-1584)aGt>aCt	p.S528T	FAM135A_ENST00000505868.1_Missense_Mutation_p.S528T|FAM135A_ENST00000370479.3_Intron|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000457062.2_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	528								p.S528T(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGTTTGAAAAGTACAGCATCA	0.333																																																1	Substitution - Missense(1)	kidney(1)											25	21	22					6																	71234370		692	1590	2282	SO:0001583	missense	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1583G>C	6.37:g.71234370G>C	ENSP00000410768:p.Ser528Thr		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	2.345	-0.350262	0.05173	.	.	ENSG00000082269	ENST00000418814;ENST00000505868	T;T	0.56444	0.46;0.46	5.57	1.55	0.23275	.	0.384243	0.36101	N	0.002793	T	0.12135	0.0295	N	0.16478	0.41	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11227	-1.0596	10	0.11182	T	0.66	-10.9852	6.5236	0.22289	0.2087:0.3649:0.4264:0.0	.	528	Q9P2D6	F135A_HUMAN	T	528	ENSP00000410768:S528T;ENSP00000423307:S528T	ENSP00000410768:S528T	S	+	2	0	FAM135A	71291091	0.846000	0.29590	1.000000	0.80357	0.986000	0.74619	-0.204000	0.09425	0.395000	0.25257	-0.218000	0.12543	AGT		0.333	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		C	71234370	G	C	71234370	3	2	542	1	0	0	0	0	1	0	0	0	5450	1029	36	4	1711	4	FAM135A	6	71234370	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	14749400	71234370	99880697	37	29166											
MAN1A1	4121	hgsc.bcm.edu;ucsc.edu	37	6	119522461	119522461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:119522461delA	ENST00000368468.3	-	8	1609	c.1168delT	c.(1168-1170)tatfs	p.Y390fs		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	390					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TAGTTAGGATAAAGGCCTTGT	0.353																																					Ovarian(136;8 1825 12608 33541 47587)											0													186	183	184					6																	119522461		2203	4300	6503	SO:0001589	frameshift_variant	4121			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1168delT	6.37:g.119522461delA	ENSP00000357453:p.Tyr390fs		E7EU32|Q6P052|Q9NU44|Q9UJI3	Frame_Shift_Del	DEL	ENST00000368468.3	37	CCDS5122.1																																																																																				0.353	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		-	119522461	A	-	119522461	7	5	542	1	0	1	0	1	0	0	0	0	9212	362	13	0	817	0	MAN1A1	6	119522461	Frame_Shift_Del	DEL	A	TCGA-CJ-5677-01A-11D-1534-10	48288091	119522461	51592606	38	29167											
THEMIS	387357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	128134336	128134336	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr6:128134336C>T	ENST00000368248.2	-	4	1598	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	THEMIS_ENST00000537166.1_Missense_Mutation_p.D449N|THEMIS_ENST00000368250.1_Missense_Mutation_p.D405N|THEMIS_ENST00000543064.1_Missense_Mutation_p.D484N	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	484	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D484N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTGTAATGTCCTCCTCCAAC	0.488																																																1	Substitution - Missense(1)	kidney(1)											76	73	74					6																	128134336		2203	4300	6503	SO:0001583	missense	387357			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1450G>A	6.37:g.128134336C>T	ENSP00000357231:p.Asp484Asn		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410801	0.25465	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.9	3.18	0.36537	.	0.460479	0.23964	N	0.042835	T	0.02727	0.0082	L	0.36672	1.1	0.28798	N	0.898957	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.45234	-0.9275	10	0.23891	T	0.37	-3.9922	4.6583	0.12630	0.1259:0.6226:0.1214:0.1301	.	484;484	F5H1J9;Q8N1K5	.;THMS1_HUMAN	N	405;484;484;449	ENSP00000357233:D405N;ENSP00000439594:D484N;ENSP00000357231:D484N;ENSP00000439863:D449N	ENSP00000357231:D484N	D	-	1	0	THEMIS	128176029	0.998000	0.40836	0.905000	0.35620	0.835000	0.47333	0.741000	0.26202	0.403000	0.25479	-0.244000	0.11960	GAC		0.488	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		T	128134336	C	T	128134336	3	4	542	1	0	0	0	0	1	0	0	0	15865	855	30	2	608	2	THEMIS	6	128134336	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	8611875	128134336	42980731	39	29168											
FIGNL1	63979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	50513982	50513982	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:50513982C>T	ENST00000419119.1	-	2	2557	c.1004G>A	c.(1003-1005)gGg>gAg	p.G335E	FIGNL1_ENST00000433017.1_Missense_Mutation_p.G335E|FIGNL1_ENST00000395556.2_Missense_Mutation_p.G335E|FIGNL1_ENST00000356889.4_Missense_Mutation_p.G335E			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	335	Necessary and sufficient for interaction with RAD51.				ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.G335E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TCCAAGTATCCCTCGGGATCT	0.468																																																1	Substitution - Missense(1)	kidney(1)											85	84	84					7																	50513982		2203	4300	6503	SO:0001583	missense	63979			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1004G>A	7.37:g.50513982C>T	ENSP00000410811:p.Gly335Glu		D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224153	0.79576	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	L	0.47190	1.495	0.80722	D	1	P	0.51537	0.946	P	0.49887	0.625	D	0.90682	0.4606	10	0.22109	T	0.4	-16.5397	19.2108	0.93753	0.0:1.0:0.0:0.0	.	335	Q6PIW4	FIGL1_HUMAN	E	335	ENSP00000349356:G335E;ENSP00000378924:G335E;ENSP00000399997:G335E;ENSP00000410811:G335E	ENSP00000349356:G335E	G	-	2	0	FIGNL1	50481476	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.786000	0.85741	2.778000	0.95560	0.650000	0.86243	GGG		0.468	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		T	50513982	C	T	50513982	3	4	542	1	0	0	0	0	1	0	0	0	5894	623	22	2	1024	2	FIGNL1	7	50513982	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10		50513982	108624681	40	29169											
ZNF479	90827	broad.mit.edu	37	7	57188569	57188569	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:57188569A>T	ENST00000331162.4	-	5	823	c.553T>A	c.(553-555)Ttc>Atc	p.F185I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F185I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTACATTTGAAATGTTTATTT	0.294																																																1	Substitution - Missense(1)	kidney(1)											68	65	66					7																	57188569		1951	4162	6113	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.553T>A	7.37:g.57188569A>T	ENSP00000333776:p.Phe185Ile			Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	9.024	0.985501	0.18889	.	.	ENSG00000185177	ENST00000331162	T	0.32515	1.45	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32224	0.0822	M	0.89163	3.01	0.09310	N	1	P	0.39282	0.666	B	0.30179	0.112	T	0.30563	-0.9974	9	0.59425	D	0.04	.	5.7317	0.18042	1.0:0.0:0.0:0.0	.	185	Q96JC4	ZN479_HUMAN	I	185	ENSP00000333776:F185I	ENSP00000333776:F185I	F	-	1	0	ZNF479	57192511	0.151000	0.22747	0.004000	0.12327	0.004000	0.04260	1.397000	0.34543	0.339000	0.23719	0.329000	0.21502	TTC		0.294	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		T	57188569	A	T	57188569	3	4	542	1	0	0	0	0	1	0	0	0	17938	14	1	5	1025	5	ZNF479	7	57188569	Missense_Mutation	SNP	A	TCGA-CJ-5677-01A-11D-1534-10	6674587	57188569	101950094	41	29170											
ZNF92	168374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	64864567	64864567	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:64864567delT	ENST00000328747.7	+	4	1739	c.1540delT	c.(1540-1542)tgtfs	p.C514fs	ZNF92_ENST00000431504.1_Frame_Shift_Del_p.C438fs|ZNF92_ENST00000450302.2_Frame_Shift_Del_p.C445fs|ZNF92_ENST00000357512.2_Frame_Shift_Del_p.C482fs	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	514					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATGTGAAAAATGTGGCAATGC	0.348																																																0													48	55	52					7																	64864567		2203	4298	6501	SO:0001589	frameshift_variant	168374			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1540delT	7.37:g.64864567delT	ENSP00000332595:p.Cys514fs		A6NNF9|Q8N492|Q8NB35	Frame_Shift_Del	DEL	ENST00000328747.7	37	CCDS34646.1																																																																																				0.348	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		-	64864567	T	-	64864567	7	5	542	1	0	1	0	1	0	0	0	0	18206	1464	51	0	1554	0	ZNF92	7	64864567	Frame_Shift_Del	DEL	T	TCGA-CJ-5677-01A-11D-1534-10	7675998	64864567	94274096	42	29171											
WBSCR17	64409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	71142217	71142217	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:71142217G>C	ENST00000333538.5	+	9	2060	c.1426G>C	c.(1426-1428)Gac>Cac	p.D476H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	476	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D476H(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAAGGCAAAAGACGTCTGCTT	0.547																																																1	Substitution - Missense(1)	kidney(1)											233	232	232					7																	71142217		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1426G>C	7.37:g.71142217G>C	ENSP00000329654:p.Asp476His		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174138	0.38413	.	.	ENSG00000185274	ENST00000333538	T	0.32272	1.46	5.2	5.2	0.72013	Ricin B-related lectin (1);Ricin B lectin (3);	0.254115	0.39083	N	0.001474	T	0.24890	0.0604	N	0.16266	0.395	0.39250	D	0.96401	B	0.24092	0.097	B	0.30105	0.111	T	0.09015	-1.0694	10	0.44086	T	0.13	.	17.9178	0.88957	0.0:0.0:1.0:0.0	.	476	Q6IS24	GLTL3_HUMAN	H	476	ENSP00000329654:D476H	ENSP00000329654:D476H	D	+	1	0	WBSCR17	70780153	1.000000	0.71417	0.960000	0.40013	0.988000	0.76386	4.504000	0.60414	2.692000	0.91855	0.650000	0.86243	GAC		0.547	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		C	71142217	G	C	71142217	3	2	542	1	0	0	0	0	1	0	0	0	17269	942	33	4	1460	4	WBSCR17	7	71142217	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	6277650	71142217	87996446	43	29172											
ANKIB1	54467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91924303	91924303	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:91924303C>A	ENST00000265742.3	+	2	387	c.11C>A	c.(10-12)aCa>aAa	p.T4K		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	4							zinc ion binding (GO:0008270)	p.T4K(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGGGAAATACAACCACCAAA	0.378																																																1	Substitution - Missense(1)	kidney(1)											47	41	43					7																	91924303		1863	4099	5962	SO:0001583	missense	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.11C>A	7.37:g.91924303C>A	ENSP00000265742:p.Thr4Lys		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065380	0.93898	.	.	ENSG00000001629	ENST00000265742;ENST00000442183	T;T	0.34072	2.58;1.38	5.56	5.56	0.83823	.	0.100995	0.64402	D	0.000002	T	0.46833	0.1413	L	0.56769	1.78	0.58432	D	0.999997	P	0.51653	0.947	P	0.47402	0.546	T	0.48736	-0.9009	10	0.87932	D	0	.	19.9019	0.96988	0.0:1.0:0.0:0.0	.	4	Q9P2G1	AKIB1_HUMAN	K	4	ENSP00000265742:T4K;ENSP00000407002:T4K	ENSP00000265742:T4K	T	+	2	0	ANKIB1	91762239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.444000	0.80532	2.781000	0.95711	0.650000	0.86243	ACA		0.378	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			A	91924303	C	A	91924303	3	1	542	1	0	0	0	0	1	0	0	0	630	478	17	4	13	4	ANKIB1	7	91924303	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	20782086	91924303	67214360	44	29173											
CFTR	1080	broad.mit.edu;hgsc.bcm.edu	37	7	117251654	117251654	+	Silent	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr7:117251654T>G	ENST00000003084.6	+	20	3291	c.3159T>G	c.(3157-3159)acT>acG	p.T1053T	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.T992T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1053	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.T1053T(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CAATTTTCACTCATCTTGTTA	0.358									Cystic Fibrosis																																							1	Substitution - coding silent(1)	kidney(1)											74	69	71					7																	117251654		2203	4300	6503	SO:0001819	synonymous_variant	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3159T>G	7.37:g.117251654T>G			Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																				0.358	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		G	117251654	T	G	117251654	2	3	542	1	0	0	0	0	0	0	0	1	3296	1538	54	5		5	CFTR	7	117251654	Silent	SNP	T	TCGA-CJ-5677-01A-11D-1534-10	25327351	117251654	41887009	45	29174											
FAM160B2	64760	broad.mit.edu;hgsc.bcm.edu	37	8	21956566	21956566	+	Splice_Site	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr8:21956566C>G	ENST00000289921.7	+	8	1119	c.1073C>G	c.(1072-1074)aCg>aGg	p.T358R		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	358								p.T84R(1)|p.T358R(1)		endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GAGGCACACACGGTGAGCAGG	0.607																																																2	Substitution - Missense(2)	kidney(2)											41	37	38					8																	21956566		1965	4136	6101	SO:0001630	splice_region_variant	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1074+1C>G	8.37:g.21956566C>G			B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	.	4.196	0.034986	0.08101	.	.	ENSG00000158863	ENST00000289921	T	0.30182	1.54	5.51	-0.196	0.13232	.	1.343940	0.04397	N	0.363502	T	0.17746	0.0426	N	0.19112	0.55	0.20307	N	0.999915	B	0.10296	0.003	B	0.12156	0.007	T	0.18618	-1.0331	10	0.26408	T	0.33	0.0789	2.2819	0.04116	0.1265:0.4286:0.1134:0.3316	.	358	Q86V87	F16B2_HUMAN	R	358	ENSP00000289921:T358R	ENSP00000289921:T358R	T	+	2	0	FAM160B2	22012511	0.000000	0.05858	0.133000	0.22050	0.203000	0.24098	-0.445000	0.06845	0.028000	0.15324	-0.995000	0.02519	ACG		0.607	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2		Missense_Mutation	G	21956566	C	G	21956566	5	3	542	1	0	0	0	0	0	0	1	0	5473	550	19	4	902	4	FAM160B2	8	21956566	Splice_Site	SNP	C	TCGA-CJ-5677-01A-11D-1534-10		21956566	124407456	46	29175											
TEX15	56154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	30706524	30706524	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr8:30706524C>A	ENST00000256246.2	-	1	84	c.10G>T	c.(10-12)Gat>Tat	p.D4Y	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	4					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.D4Y(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCTTTGGCATCACTGGGCATA	0.368																																																1	Substitution - Missense(1)	kidney(1)											62	62	62					8																	30706524		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.10G>T	8.37:g.30706524C>A	ENSP00000256246:p.Asp4Tyr			Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821998	0.50739	.	.	ENSG00000133863	ENST00000256246	T	0.20200	2.09	5.73	4.86	0.63082	.	0.593834	0.15687	N	0.249627	T	0.32346	0.0826	L	0.27053	0.805	0.29777	N	0.834329	D;D	0.89917	0.999;1.0	P;D	0.70935	0.879;0.971	T	0.16394	-1.0404	10	0.87932	D	0	.	12.0057	0.53257	0.0:0.9189:0.0:0.0811	.	284;4	D3DSV6;Q9BXT5	.;TEX15_HUMAN	Y	4	ENSP00000256246:D4Y	ENSP00000256246:D4Y	D	-	1	0	TEX15	30826066	0.743000	0.28239	0.940000	0.37924	0.416000	0.31233	1.035000	0.30216	1.426000	0.47256	0.591000	0.81541	GAT		0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			A	30706524	C	A	30706524	3	1	542	1	0	0	0	0	1	0	0	0	15784	826	29	4	8375	4	TEX15	8	30706524	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	8749958	30706524	115657498	47	29176											
TLE1	7088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	84205823	84205823	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr9:84205823C>T	ENST00000376499.3	-	16	2790	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	576					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)	p.A576T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCGTAGCAGGCGGGGGCCGAG	0.617																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)											1	Substitution - Missense(1)	kidney(1)											70	69	70					9																	84205823		2203	4300	6503	SO:0001583	missense	7088				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1726G>A	9.37:g.84205823C>T	ENSP00000365682:p.Ala576Thr		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	36	5.954952	0.97139	.	.	ENSG00000196781	ENST00000376499	T	0.59364	0.27	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73830	0.3637	L	0.52266	1.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.993;1.0	T	0.73877	-0.3844	10	0.87932	D	0	-22.5924	20.422	0.99049	0.0:1.0:0.0:0.0	.	561;602;576	B4DEF9;Q59EF7;Q04724	.;.;TLE1_HUMAN	T	576	ENSP00000365682:A576T	ENSP00000365682:A576T	A	-	1	0	TLE1	83395643	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GCC		0.617	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		T	84205823	C	T	84205823	3	4	542	1	0	0	0	0	1	0	0	0	15943	768	27	1	606	1	TLE1	9	84205823	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10		84205823	57007608	48	29177											
DNM1	1759	broad.mit.edu	37	9	131012518	131012518	+	Missense_Mutation	SNP	C	C	T	rs528033412		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr9:131012518C>T	ENST00000372923.3	+	20	2293	c.2201C>T	c.(2200-2202)gCa>gTa	p.A734V	DNM1_ENST00000475805.1_Missense_Mutation_p.A734V|DNM1_ENST00000393594.3_Missense_Mutation_p.A734V|DNM1_ENST00000341179.7_Missense_Mutation_p.A734V|DNM1_ENST00000486160.1_Missense_Mutation_p.A734V	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	734	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.A734V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ATGTACCACGCACTGAAGGAG	0.657																																					GBM(113;146 1575 2722 28670 29921)											2	Substitution - Missense(2)	kidney(2)											48	34	38					9																	131012518		2203	4300	6503	SO:0001583	missense	1759			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.2201C>T	9.37:g.131012518C>T	ENSP00000362014:p.Ala734Val		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	.	36	5.720056	0.96839	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	4.52	4.52	0.55395	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.71036	2.16	0.80722	D	1	D;D;D	0.76494	0.997;0.996;0.999	D;D;D	0.79108	0.989;0.98;0.992	T	0.71613	-0.4540	10	0.56958	D	0.05	-1.6771	17.4162	0.87500	0.0:1.0:0.0:0.0	.	734;734;673	Q05193;Q05193-3;B4DHH5	DYN1_HUMAN;.;.	V	734;734;734;734;734;279	ENSP00000419225:A734V;ENSP00000345680:A734V;ENSP00000362014:A734V;ENSP00000377219:A734V;ENSP00000420045:A734V	ENSP00000345680:A734V	A	+	2	0	DNM1	130052339	1.000000	0.71417	0.954000	0.39281	0.979000	0.70002	5.877000	0.69675	2.340000	0.79590	0.542000	0.68232	GCA		0.657	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		T	131012518	C	T	131012518	3	4	542	1	0	0	0	0	1	0	0	0	4672	710	25	2	2274	2	DNM1	9	131012518	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	46806695	131012518	10200913	49	29178											
NRG3	10718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	84745303	84745303	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr10:84745303G>A	ENST00000404547.1	+	10	2105	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	NRG3_ENST00000372142.2_Missense_Mutation_p.R481Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R508Q|NRG3_ENST00000545131.1_Missense_Mutation_p.R328Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R678Q|NRG3_ENST00000404576.2_Missense_Mutation_p.R482Q|NRG3_ENST00000537893.1_Missense_Mutation_p.R328Q			P56975	NRG3_HUMAN	neuregulin 3	702					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R481Q(1)|p.R678Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAATCAGAACGAGAGGCGCAA	0.468																																																2	Substitution - Missense(2)	kidney(2)											75	72	73					10																	84745303		2203	4300	6503	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2105G>A	10.37:g.84745303G>A	ENSP00000384796:p.Arg702Gln		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062828	0.36373	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54479	1.2;1.18;1.2;0.57;1.14;0.67;0.67	5.45	5.45	0.79879	.	0.114076	0.39615	N	0.001317	T	0.30386	0.0763	N	0.21448	0.665	0.43381	D	0.995489	B;P;P;B	0.43607	0.115;0.669;0.812;0.115	B;B;B;B	0.26693	0.036;0.053;0.072;0.036	T	0.19811	-1.0294	10	0.44086	T	0.13	-36.0478	10.2471	0.43347	0.0894:0.0:0.9106:0.0	.	677;702;481;678	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	Q	678;702;677;481;482;508;328;328	ENSP00000361214:R678Q;ENSP00000384796:R702Q;ENSP00000361215:R481Q;ENSP00000385804:R482Q;ENSP00000451376:R508Q;ENSP00000441201:R328Q;ENSP00000440377:R328Q	ENSP00000361214:R678Q	R	+	2	0	NRG3	84735283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.160000	0.50739	2.567000	0.86603	0.591000	0.81541	CGA		0.468	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		A	84745303	G	A	84745303	3	1	542	1	0	0	0	0	1	0	0	0	10651	1058	37	1	2311	1	NRG3	10	84745303	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10		84745303	50789444	50	29179											
FAM178A	55719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102684302	102684302	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr10:102684302C>G	ENST00000238961.4	+	5	2086	c.1544C>G	c.(1543-1545)tCt>tGt	p.S515C	FAM178A_ENST00000370269.3_Missense_Mutation_p.S515C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S515C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	515						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.S515C(1)									TCTGGGCATTCTACAGAATCC	0.398																																																1	Substitution - Missense(1)	kidney(1)											85	88	87					10																	102684302		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1544C>G	10.37:g.102684302C>G	ENSP00000238961:p.Ser515Cys		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324878	0.41197	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.62105	0.05;0.77;0.75	5.5	5.5	0.81552	.	0.000000	0.51477	D	0.000092	T	0.66973	0.2844	N	0.19112	0.55	0.36283	D	0.855889	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.997	T	0.73672	-0.3909	10	0.62326	D	0.03	-13.465	14.7704	0.69671	0.0:1.0:0.0:0.0	.	164;515;515;515	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	C	515	ENSP00000359294:S515C;ENSP00000238961:S515C;ENSP00000359292:S515C	ENSP00000238961:S515C	S	+	2	0	FAM178A	102674292	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.675000	0.54605	2.861000	0.98227	0.655000	0.94253	TCT		0.398	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			G	102684302	C	G	102684302	3	3	542	1	0	0	0	0	1	0	0	0	5505	913	32	4	1562	4	FAM178A	10	102684302	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	17938999	102684302	32850445	51	29180											
SPTY2D1	144108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18636132	18636132	+	Silent	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr11:18636132T>G	ENST00000336349.5	-	3	1924	c.1689A>C	c.(1687-1689)ctA>ctC	p.L563L	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	563								p.L563L(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGTAGCCAGATAGGGGAGGCT	0.418																																																1	Substitution - coding silent(1)	kidney(1)											96	101	99					11																	18636132		2199	4293	6492	SO:0001819	synonymous_variant	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1689A>C	11.37:g.18636132T>G			Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Silent	SNP	ENST00000336349.5	37	CCDS31441.1																																																																																				0.418	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		G	18636132	T	G	18636132	2	3	542	1	0	0	0	0	0	0	0	1	15131	1393	49	5		5	SPTY2D1	11	18636132	Silent	SNP	T	TCGA-CJ-5677-01A-11D-1534-10		18636132	116370384	52	29181											
PTPN5	84867	broad.mit.edu;ucsc.edu	37	11	18764949	18764949	+	Missense_Mutation	SNP	C	C	T	rs200523801		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr11:18764949C>T	ENST00000358540.2	-	5	749	c.319G>A	c.(319-321)Ggt>Agt	p.G107S	PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396171.4_Missense_Mutation_p.G107S|PTPN5_ENST00000396168.1_Missense_Mutation_p.G83S|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Intron|PTPN5_ENST00000396170.1_Intron|PTPN5_ENST00000477854.1_5'UTR	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	107				G -> A (in Ref. 2; CAD38632). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)	p.G107S(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGGCCATAACCGCTGAACCAG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17238	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)						C	,SER/GLY,SER/GLY	1,4397	2.1+/-5.4	0,1,2198	104	100	101		,319,319	3	1	11		101	0,8586		0,0,4293	no	intron,missense,missense	PTPN5	NM_001039970.1,NM_032781.3,NM_006906.1	,56,56	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	,benign,benign	,107/566,107/566	18764949	1,12983	2199	4293	6492	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.319G>A	11.37:g.18764949C>T	ENSP00000351342:p.Gly107Ser		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	CCDS7845.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.28	2.489086	0.44249	2.27E-4	0.0	ENSG00000110786	ENST00000358540;ENST00000396171;ENST00000396168	T;T;T	0.03831	3.79;3.79;3.82	3.86	2.95	0.34219	.	0.244121	0.29198	N	0.012843	T	0.03651	0.0104	N	0.24115	0.695	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.41305	-0.9516	10	0.62326	D	0.03	.	7.3139	0.26489	0.0:0.8778:0.0:0.1222	.	107	P54829	PTN5_HUMAN	S	107;107;83	ENSP00000351342:G107S;ENSP00000379474:G107S;ENSP00000379471:G83S	ENSP00000351342:G107S	G	-	1	0	PTPN5	18721525	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.521000	0.53472	0.981000	0.38548	0.561000	0.74099	GGT		0.607	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		T	18764949	C	T	18764949	3	4	542	1	0	0	0	0	1	0	0	0	12797	652	23	1	1422	1	PTPN5	11	18764949	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	128817	18764949	116241567	53	29182											
C11orf46	120534	hgsc.bcm.edu	37	11	30352756	30352756	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr11:30352756A>C	ENST00000282032.3	+	2	476	c.261A>C	c.(259-261)aaA>aaC	p.K87N		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	87						cytoplasm (GO:0005737)											AATTAGCCAAAAAAAATTTGC	0.338																																																0													94	93	93					11																	30352756		2202	4299	6501	SO:0001583	missense	0			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"chromosome 11 open reading frame 46"	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.261A>C	11.37:g.30352756A>C	ENSP00000282032:p.Lys87Asn		Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966523	0.34659	.	.	ENSG00000152219	ENST00000282032;ENST00000530909	T	0.66280	-0.2	5.57	3.23	0.37069	.	0.101735	0.64402	D	0.000006	T	0.51109	0.1655	L	0.36672	1.1	0.35322	D	0.784845	P	0.34934	0.476	B	0.41174	0.349	T	0.59064	-0.7524	10	0.54805	T	0.06	-24.3038	4.2176	0.10542	0.6065:0.0:0.3935:0.0	.	87	Q8N8R7	CK046_HUMAN	N	87	ENSP00000282032:K87N	ENSP00000282032:K87N	K	+	3	2	C11orf46	30309332	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.223000	0.42936	0.947000	0.37659	0.533000	0.62120	AAA		0.338	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		C	30352756	A	C	30352756	3	2	542	1	0	0	0	0	1	0	0	0	1645	11	1	5	263	5	C11orf46	11	30352756	Missense_Mutation	SNP	A	TCGA-CJ-5677-01A-11D-1534-10	11587807	30352756	104653760	54	29183											
FAM55D	54827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	114442140	114442140	+	Silent	SNP	C	C	A	rs372817926		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr11:114442140C>A	ENST00000375478.3	-	6	1335	c.1155G>T	c.(1153-1155)gtG>gtT	p.V385V	NXPE4_ENST00000424261.2_Silent_p.V101V	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	385						extracellular vesicular exosome (GO:0070062)		p.V385V(1)									TATCCAAATCCACAGCAAGCT	0.408																																																1	Substitution - coding silent(1)	kidney(1)											215	190	198					11																	114442140		1911	4138	6049	SO:0001819	synonymous_variant	0			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1155G>T	11.37:g.114442140C>A			Q6QDB4|Q9NXP5	Silent	SNP	ENST00000375478.3	37	CCDS41718.1																																																																																				0.408	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		A	114442140	C	A	114442140	2	1	542	1	0	0	0	0	0	0	0	1	5589	581	21	4		4	FAM55D	11	114442140	Silent	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	84089384	114442140	20564376	55	29184											
SPA17	53340	hgsc.bcm.edu;ucsc.edu	37	11	124564181	124564203	+	Splice_Site	DEL	TTTCTCCTTTCGATGAAGGACTC	TTTCTCCTTTCGATGAAGGACTC	-	rs199883810		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	TTTCTCCTTTCGATGAAGGACTC	TTTCTCCTTTCGATGAAGGACTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr11:124564181_124564203delTTTCTCCTTTCGATGAAGGACTC	ENST00000532692.1	+	4	1733_1738	c.312_317delTTTCTCCTTTCGATGAAGGACTC	c.(310-318)tttttctcc>ttc	p.FS105fs	SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000227135.2_Splice_Site_p.FS105fs|SPA17_ENST00000524614.1_3'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	105					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCTCTTACTTTTTCTCCTTTCGATGAAGGACTCTTCTGAGGAA	0.395																																																0																																										SO:0001630	splice_region_variant	53340			AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"cancer/testis antigen 22"	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.313-1TTTCTCCTTTCGATGAAGGACTC>-	11.37:g.124564181_124564203delTTTCTCCTTTCGATGAAGGACTC			B2R4F2|Q9BXF7	Frame_Shift_Del	DEL	ENST00000532692.1	37	CCDS8450.1																																																																																				0.395	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387075.1	NM_017425	Frame_Shift_Del	-	124564203	TTTCTCCTTTCGATGAAGGACTC	-	124564181	8	5	542	1	0	1	0	1	0	0	1	0	14977	1856	64	0		0	SPA17	11	124564181	Splice_Site	DEL	TTTCTCCTTTCGATGAAGGACTC	TCGA-CJ-5677-01A-11D-1534-10	10122041	124564181	10442335	56	29185											
NELL2	4753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	44915937	44915937	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr12:44915937C>T	ENST00000429094.2	-	18	2525	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q	NELL2_ENST00000333837.4_Missense_Mutation_p.R697Q|NELL2_ENST00000549027.1_Missense_Mutation_p.R673Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R673Q|NELL2_ENST00000551601.1_Missense_Mutation_p.R626Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R724Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R674Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	674	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R724Q(1)|p.R674Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACAGACCATCCGTCGACACAT	0.438																																																2	Substitution - Missense(2)	kidney(2)											100	92	95					12																	44915937		2203	4300	6503	SO:0001583	missense	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2021G>A	12.37:g.44915937C>T	ENSP00000390680:p.Arg674Gln		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273423	0.95459	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;T;D;D;D;D	0.82619	-1.57;-1.54;-1.25;-1.54;-1.57;-1.51;-1.63	5.7	4.81	0.61882	von Willebrand factor, type C (2);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88548	0.6466	L	0.55103	1.725	0.58432	D	0.999994	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.978;0.999;0.996;0.992;0.999	D	0.88054	0.2789	10	0.42905	T	0.14	-16.7329	14.8365	0.70187	0.0:0.931:0.0:0.069	.	697;724;626;674;673	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	Q	673;674;626;674;673;697;724	ENSP00000378866:R673Q;ENSP00000390680:R674Q;ENSP00000449332:R626Q;ENSP00000394612:R674Q;ENSP00000447927:R673Q;ENSP00000327988:R697Q;ENSP00000416341:R724Q	ENSP00000327988:R697Q	R	-	2	0	NELL2	43202204	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.814000	0.86154	1.405000	0.46838	0.650000	0.86243	CGG		0.438	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		T	44915937	C	T	44915937	3	4	542	1	0	0	0	0	1	0	0	0	10336	652	23	1	441	1	NELL2	12	44915937	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10		44915937	88935958	57	29186											
SUOX	6821	broad.mit.edu;ucsc.edu	37	12	56397616	56397616	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr12:56397616T>C	ENST00000394109.3	+	3	1167	c.443T>C	c.(442-444)gTg>gCg	p.V148A	SUOX_ENST00000548274.1_Missense_Mutation_p.V148A|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000356124.4_Missense_Mutation_p.V148A|SUOX_ENST00000266971.3_Missense_Mutation_p.V148A|SUOX_ENST00000394115.2_Missense_Mutation_p.V148A|SUOX_ENST00000550478.1_3'UTR			P51687	SUOX_HUMAN	sulfite oxidase	148	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)	p.V148A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CAGTCCCATGTGCGTGAGTTA	0.562																																																1	Substitution - Missense(1)	kidney(1)											98	95	96					12																	56397616		2203	4300	6503	SO:0001583	missense	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.443T>C	12.37:g.56397616T>C	ENSP00000377668:p.Val148Ala			Missense_Mutation	SNP	ENST00000394109.3	37	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969971	0.74246	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000546833;ENST00000394109	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.46	4.46	0.54185	Cytochrome b5 (5);	0.153877	0.43579	D	0.000557	T	0.78748	0.4332	N	0.25094	0.71	0.80722	D	1	D	0.59767	0.986	D	0.66084	0.941	T	0.79914	-0.1602	10	0.48119	T	0.1	-18.3726	13.6785	0.62469	0.0:0.0:0.0:1.0	.	148	P51687	SUOX_HUMAN	A	148	ENSP00000348440:V148A;ENSP00000266971:V148A;ENSP00000377674:V148A;ENSP00000450245:V148A;ENSP00000449872:V148A;ENSP00000377668:V148A	ENSP00000266971:V148A	V	+	2	0	SUOX	54683883	1.000000	0.71417	0.974000	0.42286	0.914000	0.54420	7.344000	0.79328	2.233000	0.73108	0.533000	0.62120	GTG		0.562	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		C	56397616	T	C	56397616	3	2	542	1	0	0	0	0	1	0	0	0	15400	1696	59	3	453	3	SUOX	12	56397616	Missense_Mutation	SNP	T	TCGA-CJ-5677-01A-11D-1534-10	11481679	56397616	77454279	58	29187											
INTS6	26512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	51943326	51943326	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr13:51943326G>T	ENST00000311234.4	-	16	2697	c.2225C>A	c.(2224-2226)gCc>gAc	p.A742D	INTS6_ENST00000490542.1_Missense_Mutation_p.A426D|INTS6_ENST00000497989.1_Missense_Mutation_p.A564D|INTS6_ENST00000463928.1_3'UTR|INTS6_ENST00000425000.1_Missense_Mutation_p.A310D|INTS6_ENST00000398119.2_Missense_Mutation_p.A729D	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	742					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.A742D(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CAGTAAACTGGCTGGAGAAGA	0.408																																																1	Substitution - Missense(1)	kidney(1)											83	79	80					13																	51943326		2203	4300	6503	SO:0001583	missense	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2225C>A	13.37:g.51943326G>T	ENSP00000310260:p.Ala742Asp		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	G	4.595	0.110652	0.08780	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.33	3.31	0.37934	.	0.860776	0.10622	N	0.653217	T	0.28665	0.0710	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10894	-1.0610	8	.	.	.	0.0592	6.5406	0.22378	0.3097:0.0:0.6903:0.0	.	742	Q9UL03	INT6_HUMAN	D	742;729;564;310;426	.	.	A	-	2	0	INTS6	50841327	1.000000	0.71417	0.775000	0.31657	0.592000	0.36648	2.193000	0.42658	1.242000	0.43836	0.557000	0.71058	GCC		0.408	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		T	51943326	G	T	51943326	3	4	542	1	0	0	0	0	1	0	0	0	7784	1203	42	4	450	4	INTS6	13	51943326	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10		51943326	63226552	59	29188											
HEATR5A	25938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	31817065	31817065	+	Silent	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr14:31817065G>A	ENST00000389961.3	-	18	2738	c.2739C>T	c.(2737-2739)gcC>gcT	p.A913A	HEATR5A_ENST00000404677.3_Silent_p.A919A|HEATR5A_ENST00000439348.1_Silent_p.A913A|HEATR5A_ENST00000439727.1_Silent_p.A626A|HEATR5A_ENST00000543095.2_Silent_p.A919A			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	913								p.A913A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GGGACCCCAAGGCCAATGAGT	0.373																																																2	Substitution - coding silent(2)	kidney(2)											44	41	42					14																	31817065		1839	4085	5924	SO:0001819	synonymous_variant	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2739C>T	14.37:g.31817065G>A			Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.063|9.063	0.994921|0.994921	0.19043|0.19043	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000550366|ENST00000538864	.|.	.|.	.|.	5.06|5.06	-0.356|-0.356	0.12583|0.12583	.|.	.|.	.|.	.|.	.|.	T|T	0.39759|0.39759	0.1090|0.1090	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21314|0.21314	-1.0249|-1.0249	4|4	.|.	.|.	.|.	.|.	0.94|0.94	0.01353|0.01353	0.3617:0.1183:0.2895:0.2305|0.3617:0.1183:0.2895:0.2305	.|.	.|.	.|.	.|.	F|L	562|547	.|.	.|.	L|P	-|-	1|2	0|0	HEATR5A|HEATR5A	30886816|30886816	0.925000|0.925000	0.31364|0.31364	0.994000|0.994000	0.49952|0.49952	0.945000|0.945000	0.59286|0.59286	0.178000|0.178000	0.16820|0.16820	-0.335000|-0.335000	0.08451|0.08451	-0.367000|-0.367000	0.07326|0.07326	CTT|CCT		0.373	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		A	31817065	G	A	31817065	2	1	542	1	0	0	0	0	0	0	0	1	7033	987	35	2		2	HEATR5A	14	31817065	Silent	SNP	G	TCGA-CJ-5677-01A-11D-1534-10		31817065	75532475	60	29189											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:7577097C>A	ENST00000269305.4	-	8	1030	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000420246.2_Missense_Mutation_p.D281Y|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTGCGCCGGTCTCTCCCAGGA	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	GRCh37	CM076566	TP53	M							80	69	73					17																	7577097		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.841G>T	17.37:g.7577097C>A	ENSP00000269305:p.Asp281Tyr		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	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892841	0.91889	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	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	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	281;281;281;281;281;270;149	ENSP00000352610:D281Y;ENSP00000269305:D281Y;ENSP00000398846:D281Y;ENSP00000391127:D281Y;ENSP00000391478:D281Y;ENSP00000425104:D149Y	ENSP00000269305:D281Y	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		A	7577097	C	A	7577097	3	1	542	1	0	0	0	0	1	0	0	0	16386	913	32	4	445	4	TP53	17	7577097	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10		7577097	73618113	61	29190											
TP53	7157	broad.mit.edu	37	17	7577565	7577565	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:7577565T>C	ENST00000269305.4	-	7	905	c.716A>G	c.(715-717)aAc>aGc	p.N239S	TP53_ENST00000359597.4_Missense_Mutation_p.N239S|TP53_ENST00000420246.2_Missense_Mutation_p.N239S|TP53_ENST00000455263.2_Missense_Mutation_p.N239S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.N239S|TP53_ENST00000445888.2_Missense_Mutation_p.N239S	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> 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.N239S(28)|p.0?(8)|p.?(5)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.N239fs*25(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.N239_C242del(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)	GCAGGAACTGTTACACATGTA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	76	Substitution - Missense(36)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(4)|Substitution - Nonsense(1)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	biliary_tract(10)|urinary_tract(6)|lung(6)|ovary(6)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|oesophagus(5)|breast(5)|bone(5)|central_nervous_system(4)|large_intestine(4)|endometrium(4)|kidney(4)|stomach(3)|thyroid(1)|soft_tissue(1)|liver(1)|pancreas(1)											135	105	115					17																	7577565		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.716A>G	17.37:g.7577565T>C	ENSP00000269305:p.Asn239Ser		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	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565663	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	4.62	4.62	0.57501	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	0.99736	0.9896	M	0.87381	2.88	0.58432	D	0.999991	D;B;D;D;D;D	0.89917	0.988;0.31;0.999;0.98;0.99;1.0	P;B;D;P;P;D	0.87578	0.826;0.104;0.981;0.815;0.891;0.998	D	0.97237	0.9888	10	0.87932	D	0	-35.9081	12.3101	0.54924	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239S;ENSP00000352610:N239S;ENSP00000269305:N239S;ENSP00000398846:N239S;ENSP00000391127:N239S;ENSP00000391478:N239S;ENSP00000425104:N107S;ENSP00000423862:N146S	ENSP00000269305:N239S	N	-	2	0	TP53	7518290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577565	T	C	7577565	3	2	542	1	0	0	0	0	1	0	0	0	16386	1725	60	3	574	3	TP53	17	7577565	Missense_Mutation	SNP	T	TCGA-CJ-5677-01A-11D-1534-10	468	7577565	73617645	62	29191											
NCOR1	9611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15952284	15952284	+	Silent	SNP	T	T	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:15952284T>G	ENST00000268712.3	-	41	6668	c.6411A>C	c.(6409-6411)ccA>ccC	p.P2137P	NCOR1_ENST00000395857.3_Silent_p.P721P|NCOR1_ENST00000395851.1_Silent_p.P2034P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2137	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P2137P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACTCCTCTCTGGGGATTTTC	0.473																																																1	Substitution - coding silent(1)	kidney(1)											68	63	65					17																	15952284		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6411A>C	17.37:g.15952284T>G			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.473	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		G	15952284	T	G	15952284	2	3	542	1	0	0	0	0	0	0	0	1	10237	1567	55	5		5	NCOR1	17	15952284	Silent	SNP	T	TCGA-CJ-5677-01A-11D-1534-10	8374719	15952284	65242926	63	29192											
WFIKKN2	124857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48918195	48918195	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:48918195C>G	ENST00000311378.4	+	2	2074	c.1546C>G	c.(1546-1548)Ccc>Gcc	p.P516A	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P423A|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	516	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P516A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGGGCATGCCCCTGCCCCAA	0.612																																																1	Substitution - Missense(1)	kidney(1)											73	49	57					17																	48918195		2203	4300	6503	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1546C>G	17.37:g.48918195C>G	ENSP00000311184:p.Pro516Ala		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299746	0.81136	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	T;T	0.33438	1.41;1.41	5.12	5.12	0.69794	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64343	-0.6430	10	0.87932	D	0	.	18.9277	0.92552	0.0:1.0:0.0:0.0	.	516	Q8TEU8	WFKN2_HUMAN	A	423;516;222	ENSP00000405889:P423A;ENSP00000311184:P516A	ENSP00000311184:P516A	P	+	1	0	WFIKKN2	46273194	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.765000	0.85310	2.539000	0.85634	0.561000	0.74099	CCC		0.612	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		G	48918195	C	G	48918195	3	3	542	1	0	0	0	0	1	0	0	0	17364	623	22	4	1552	4	WFIKKN2	17	48918195	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	32965911	48918195	32277015	64	29193											
C17orf56	146705	broad.mit.edu	37	17	79204474	79204474	+	Missense_Mutation	SNP	G	G	A	rs371283553		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:79204474G>A	ENST00000300714.3	-	11	956	c.899C>T	c.(898-900)gCg>gTg	p.A300V	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.A216V|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	300						cytoplasmic vesicle (GO:0031410)		p.A300V(1)									GGCACACAGCGCCCTCTGCGG	0.672											OREG0024811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											19	22	21					17																	79204474		2203	4297	6500	SO:0001583	missense	0			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.899C>T	17.37:g.79204474G>A	ENSP00000300714:p.Ala300Val	1189	Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413624	0.62511	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.21191	2.02;2.02	5.15	5.15	0.70609	.	0.268590	0.35677	N	0.003050	T	0.45115	0.1326	M	0.64997	1.995	0.37205	D	0.904564	P;D	0.89917	0.954;1.0	B;D	0.87578	0.336;0.998	T	0.52653	-0.8547	10	0.72032	D	0.01	-16.0036	16.4089	0.83699	0.0:0.0:1.0:0.0	.	300;216	Q96N21;Q96N21-2	CQ056_HUMAN;.	V	300;216	ENSP00000300714:A300V;ENSP00000363901:A216V	ENSP00000300714:A300V	A	-	2	0	C17orf56	76819069	1.000000	0.71417	0.958000	0.39756	0.005000	0.04900	3.649000	0.54417	2.399000	0.81585	0.542000	0.68232	GCG		0.672	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		A	79204474	G	A	79204474	3	1	542	1	0	0	0	0	1	0	0	0	1866	1087	38	1	686	1	C17orf56	17	79204474	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	30286279	79204474	1990736	65	29194											
TBCD	6904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80765530	80765530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr17:80765530G>A	ENST00000355528.4	+	11	1264	c.1134G>A	c.(1132-1134)tgG>tgA	p.W378*	TBCD_ENST00000539345.2_Nonsense_Mutation_p.W378*|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	378					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.W378*(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TCGTGCGGTGGTCTGCAGCCA	0.592																																																1	Substitution - Nonsense(1)	kidney(1)											46	53	51					17																	80765530		2051	4172	6223	SO:0001587	stop_gained	6904			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1134G>A	17.37:g.80765530G>A	ENSP00000347719:p.Trp378*		O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Nonsense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779519	0.90195	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000334614;ENST00000536182	.	.	.	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.188	0.65620	0.0:0.0:1.0:0.0	.	.	.	.	X	378;361;129;378	.	.	W	+	3	0	TBCD	78358819	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	8.047000	0.89440	2.493000	0.84123	0.655000	0.94253	TGG		0.592	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		A	80765530	G	A	80765530	4	1	542	1	0	0	0	0	0	1	0	0	15638	1270	44	2	1176	2	TBCD	17	80765530	Nonsense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	1561056	80765530	429680	66	29195											
MATK	4145	broad.mit.edu	37	19	3783901	3783901	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:3783901C>T	ENST00000310132.6	-	6	891	c.493G>A	c.(493-495)Gac>Aac	p.D165N	MATK_ENST00000585778.1_Missense_Mutation_p.D165N|MATK_ENST00000395045.2_Missense_Mutation_p.D166N|MATK_ENST00000395040.2_Missense_Mutation_p.D124N	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	165	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D166N(1)|p.D165N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGATGACGTCGCGGCCAAAG	0.662																																																2	Substitution - Missense(2)	kidney(2)											54	45	48					19																	3783901		2203	4299	6502	SO:0001583	missense	4145			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.493G>A	19.37:g.3783901C>T	ENSP00000308734:p.Asp165Asn		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	c	13.36	2.215344	0.39102	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.88277	-2.36;-2.36;-2.36	4.8	4.8	0.61643	SH2 motif (5);	0.262201	0.37136	N	0.002238	D	0.84352	0.5453	N	0.12502	0.225	0.37084	D	0.899141	D;D;D	0.58970	0.984;0.967;0.984	P;P;P	0.51974	0.686;0.612;0.686	D	0.84177	0.0437	10	0.17369	T	0.5	-38.7543	16.8631	0.86023	0.0:1.0:0.0:0.0	.	165;166;165	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	N	166;165;124	ENSP00000378485:D166N;ENSP00000308734:D165N;ENSP00000378481:D124N	ENSP00000308734:D165N	D	-	1	0	MATK	3734901	0.997000	0.39634	0.868000	0.34077	0.334000	0.28698	3.610000	0.54125	2.214000	0.71695	0.556000	0.70494	GAC		0.662	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		T	3783901	C	T	3783901	3	4	542	1	0	0	0	0	1	0	0	0	9334	884	31	1	1066	1	MATK	19	3783901	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10		3783901	55345082	67	29196											
PIAS4	51588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4013124	4013124	+	Silent	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:4013124G>A	ENST00000262971.2	+	2	346	c.231G>A	c.(229-231)ccG>ccA	p.P77P		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	77					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P77P(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACAGCCGCACCGGCCCC	0.637																																																1	Substitution - coding silent(1)	kidney(1)											42	48	46					19																	4013124		2203	4300	6503	SO:0001819	synonymous_variant	51588			AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.231G>A	19.37:g.4013124G>A			O75926|Q96G19|Q9UN16	Silent	SNP	ENST00000262971.2	37	CCDS12118.1																																																																																				0.637	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		A	4013124	G	A	4013124	2	1	542	1	0	0	0	0	0	0	0	1	11880	1074	38	1		1	PIAS4	19	4013124	Silent	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	229223	4013124	55115859	68	29197											
ARHGEF18	23370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7509264	7509264	+	Missense_Mutation	SNP	G	G	A	rs560092117		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:7509264G>A	ENST00000359920.6	+	4	1224	c.971G>A	c.(970-972)cGc>cAc	p.R324H	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.A282T|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R166H	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	324	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R324H(1)|p.R166H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CTCAAGGAGCGCCGCCAGGAG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18357	0.001		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)											52	53	52					19																	7509264		2203	4300	6503	SO:0001583	missense	23370			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.971G>A	19.37:g.7509264G>A	ENSP00000352995:p.Arg324His		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156324	0.94686	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.71222	-0.55;-0.55	5.0	5.0	0.66597	Dbl homology (DH) domain (5);	0.000000	0.56097	D	0.000031	D	0.87958	0.6309	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91184	0.4978	10	0.87932	D	0	-16.6913	15.8086	0.78538	0.0:0.0:1.0:0.0	.	324	Q6ZSZ5	ARHGI_HUMAN	H	166;324	ENSP00000319200:R166H;ENSP00000352995:R324H	ENSP00000319200:R166H	R	+	2	0	ARHGEF18	7415264	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.869000	0.99810	2.312000	0.78011	0.561000	0.74099	CGC		0.617	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		A	7509264	G	A	7509264	3	1	542	1	0	0	0	0	1	0	0	0	901	1087	38	1	985	1	ARHGEF18	19	7509264	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	3496140	7509264	51619719	69	29198											
COPE	11316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19021795	19021795	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:19021795G>A	ENST00000262812.4	-	3	323	c.275C>T	c.(274-276)gCc>gTc	p.A92V	AC002985.3_ENST00000596918.1_3'UTR|COPE_ENST00000349893.4_Missense_Mutation_p.A92V|COPE_ENST00000351079.4_Missense_Mutation_p.A92V|COPE_ENST00000600932.1_Missense_Mutation_p.A92V|COPE_ENST00000598969.1_5'UTR	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	92					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.A92V(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						ACTCTCGTGGGCGAGGTAGTC	0.627																																																1	Substitution - Missense(1)	kidney(1)											108	91	97					19																	19021795		2203	4300	6503	SO:0001583	missense	11316			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.275C>T	19.37:g.19021795G>A	ENSP00000262812:p.Ala92Val		A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	ENST00000262812.4	37	CCDS12387.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557734	0.45590	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000349893;ENST00000538245	T;T;T	0.45276	0.9;0.9;0.9	4.8	3.75	0.43078	.	0.293194	0.38959	N	0.001515	T	0.42381	0.1200	L	0.56199	1.76	0.39677	D	0.970844	B;B;P;B	0.34699	0.265;0.302;0.464;0.265	B;B;B;B	0.39971	0.042;0.315;0.315;0.042	T	0.33214	-0.9877	10	0.30078	T	0.28	-10.6483	13.1673	0.59579	0.0:0.0:0.8392:0.1608	.	92;92;92;92	Q53HJ6;A6NE29;A6NKA3;O14579	.;.;.;COPE_HUMAN	V	92;92;92;91	ENSP00000262812:A92V;ENSP00000345674:A92V;ENSP00000343134:A92V	ENSP00000262812:A92V	A	-	2	0	COPE	18882795	1.000000	0.71417	0.779000	0.31741	0.174000	0.22865	7.130000	0.77235	1.005000	0.39183	0.514000	0.50259	GCC		0.627	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	NM_007263		A	19021795	G	A	19021795	3	1	542	1	0	0	0	0	1	0	0	0	3732	1203	42	2	683	2	COPE	19	19021795	Missense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	11512531	19021795	40107188	70	29199											
C19orf47	126526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40829950	40829950	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:40829950C>T	ENST00000582783.1	-	8	749	c.737G>A	c.(736-738)gGc>gAc	p.G246D	C19orf47_ENST00000584868.1_5'Flank|C19orf47_ENST00000392035.2_Missense_Mutation_p.G179D	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	246						nucleus (GO:0005634)		p.G179D(1)|p.G246D(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			GGTCTCGGCGCCGAGGCGGTC	0.632																																																2	Substitution - Missense(2)	kidney(2)											197	147	164					19																	40829950		2203	4300	6503	SO:0001583	missense	126526			AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.737G>A	19.37:g.40829950C>T	ENSP00000463159:p.Gly246Asp		Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450919	0.96205	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70107	-0.4963	9	0.23302	T	0.38	1.1533	16.9073	0.86131	0.0:1.0:0.0:0.0	.	246	Q8N9M1	CS047_HUMAN	D	246;179	.	ENSP00000350556:G246D	G	-	2	0	C19orf47	45521790	1.000000	0.71417	0.977000	0.42913	0.941000	0.58515	6.408000	0.73285	2.584000	0.87258	0.563000	0.77884	GGC		0.632	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		T	40829950	C	T	40829950	3	4	542	1	0	0	0	0	1	0	0	0	1932	739	26	2	539	2	C19orf47	19	40829950	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	21808155	40829950	18299033	71	29200											
NLRP12	91662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54313326	54313326	+	Silent	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr19:54313326G>A	ENST00000324134.6	-	3	1755	c.1587C>T	c.(1585-1587)gaC>gaT	p.D529D	NLRP12_ENST00000535162.1_Silent_p.D529D|NLRP12_ENST00000391775.3_Silent_p.D529D|NLRP12_ENST00000351894.4_Silent_p.D529D|NLRP12_ENST00000391773.1_Silent_p.D529D|NLRP12_ENST00000354278.3_Silent_p.D529D|NLRP12_ENST00000345770.5_Silent_p.D529D|NLRP12_ENST00000391772.1_Silent_p.D529D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	529					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.D529D(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTCCCCCTCGTCCAGGATAT	0.537																																																1	Substitution - coding silent(1)	kidney(1)											92	93	92					19																	54313326		2203	4300	6503	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1587C>T	19.37:g.54313326G>A			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1																																																																																				0.537	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54313326	G	A	54313326	2	1	542	1	0	0	0	0	0	0	0	1	10476	1136	40	1		1	NLRP12	19	54313326	Silent	SNP	G	TCGA-CJ-5677-01A-11D-1534-10	13483376	54313326	4815657	72	29201											
JPH2	57158	broad.mit.edu	37	20	42788569	42788569	+	Silent	SNP	G	G	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr20:42788569G>A	ENST00000372980.3	-	2	1730	c.858C>T	c.(856-858)acC>acT	p.T286T		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	286					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.T286T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTCGGTGGTGGTGGCGTCGA	0.706																																																1	Substitution - coding silent(1)	kidney(1)											51	47	48					20																	42788569		2203	4300	6503	SO:0001819	synonymous_variant	57158			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.858C>T	20.37:g.42788569G>A			E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																				0.706	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			A	42788569	G	A	42788569	2	1	542	1	0	0	0	0	0	0	0	1	7963	1335	47	2		2	JPH2	20	42788569	Silent	SNP	G	TCGA-CJ-5677-01A-11D-1534-10		42788569	20236951	73	29202											
C22orf31	25770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	29456415	29456415	+	Silent	SNP	T	T	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chr22:29456415T>C	ENST00000216071.4	-	2	471	c.420A>G	c.(418-420)ggA>ggG	p.G140G		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	140								p.G140G(1)		cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						CTCTGATGCCTCCTGCAGGCC	0.517																																																1	Substitution - coding silent(1)	kidney(1)											117	107	111					22																	29456415		2203	4300	6503	SO:0001819	synonymous_variant	25770			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.420A>G	22.37:g.29456415T>C			A0AV97	Silent	SNP	ENST00000216071.4	37	CCDS13848.1																																																																																				0.517	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		C	29456415	T	C	29456415	2	2	542	1	0	0	0	0	0	0	0	1	2145	1538	54	3		3	C22orf31	22	29456415	Silent	SNP	T	TCGA-CJ-5677-01A-11D-1534-10		29456415	21848151	74	29203											
SCML1	6322	broad.mit.edu	37	X	17763603	17763603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chrX:17763603G>T	ENST00000380041.3	+	3	389	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	SCML1_ENST00000380045.3_Intron|SCML1_ENST00000380043.3_Intron|SCML1_ENST00000398080.1_Intron	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	21					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E21*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TACTTACGATGAAGATGACAA	0.284																																																1	Substitution - Nonsense(1)	kidney(1)											82	73	76					X																	17763603		2201	4297	6498	SO:0001587	stop_gained	6322				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"Sterile alpha motif (SAM) domain containing"	10580	protein-coding gene	gene with protein product		300227	"sex comb on midleg (Drosophila)-like 1"			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.61G>T	X.37:g.17763603G>T	ENSP00000369380:p.Glu21*		B0FZN6|B2RA08|Q5H968|Q5H969	Nonsense_Mutation	SNP	ENST00000380041.3	37	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553300	0.65425	.	.	ENSG00000047634	ENST00000380041	.	.	.	2.73	-3.27	0.05048	.	1.258710	0.06242	U	0.690674	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-1.9668	5.5367	0.17016	0.2031:0.557:0.24:0.0	.	.	.	.	X	21	.	ENSP00000369380:E21X	E	+	1	0	SCML1	17673524	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.639000	0.05446	-0.949000	0.03663	-0.577000	0.04142	GAA		0.284	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		T	17763603	G	T	17763603	4	4	542	1	0	0	0	0	0	1	0	0	13915	1291	45	4	67	4	SCML1	23	17763603	Nonsense_Mutation	SNP	G	TCGA-CJ-5677-01A-11D-1534-10		17763603	137506957	75	29204											
PHF16	9767	broad.mit.edu;ucsc.edu	37	X	46887397	46887397	+	Silent	SNP	A	A	C			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chrX:46887397A>C	ENST00000218343.4	+	6	877	c.579A>C	c.(577-579)ctA>ctC	p.L193L	PHF16_ENST00000397189.1_Silent_p.L193L	NM_014735.3	NP_055550.1												p.L193L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AGGAAGGGCTAGGCATAGAGT	0.448																																																1	Substitution - coding silent(1)	kidney(1)											299	204	236					X																	46887397		2203	4300	6503	SO:0001819	synonymous_variant	9767																														ENST00000218343.4:c.579A>C	X.37:g.46887397A>C				Silent	SNP	ENST00000218343.4	37	CCDS14271.1																																																																																				0.448	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			C	46887397	A	C	46887397	2	2	542	1	0	0	0	0	0	0	0	1	11829	407	15	5		5	PHF16	23	46887397	Silent	SNP	A	TCGA-CJ-5677-01A-11D-1534-10	29123794	46887397	108383163	76	29205											
AKAP4	8852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	49957227	49957227	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chrX:49957227T>A	ENST00000376056.2	-	5	2260	c.2110A>T	c.(2110-2112)Aag>Tag	p.K704*	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Nonsense_Mutation_p.K713*|AKAP4_ENST00000376058.2_Nonsense_Mutation_p.K330*|AKAP4_ENST00000376064.3_Nonsense_Mutation_p.K704*					A kinase (PRKA) anchor protein 4									p.K713*(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTGCTATACTTAGCCATGATA	0.478																																																1	Substitution - Nonsense(1)	kidney(1)											101	81	88					X																	49957227		2203	4300	6503	SO:0001587	stop_gained	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2110A>T	X.37:g.49957227T>A	ENSP00000365224:p.Lys704*			Nonsense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	T	35	5.476549	0.96291	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	.	.	.	4.93	4.93	0.64822	.	0.103489	0.42548	D	0.000700	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.5327	10.0706	0.42330	0.0:0.0:0.0:1.0	.	.	.	.	X	704;330;713;704	.	.	K	-	1	0	AKAP4	49843967	1.000000	0.71417	0.932000	0.37286	0.429000	0.31625	4.446000	0.60014	1.643000	0.50594	0.430000	0.28490	AAG		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		A	49957227	T	A	49957227	4	1	542	1	0	0	0	0	0	1	0	0	453	1763	61	5	435	5	AKAP4	23	49957227	Nonsense_Mutation	SNP	T	TCGA-CJ-5677-01A-11D-1534-10	3069830	49957227	105313333	77	29206											
SHROOM4	57477	hgsc.bcm.edu	37	X	50350758	50350758	+	Silent	SNP	C	C	T	rs201922875|rs553160982		TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chrX:50350758C>T	ENST00000289292.7	-	6	3667	c.3384G>A	c.(3382-3384)caG>caA	p.Q1128Q	SHROOM4_ENST00000460112.3_Silent_p.Q1012Q|SHROOM4_ENST00000376020.2_Silent_p.Q1128Q			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgct	0.592																																																0													16	16	16					X																	50350758		2200	4287	6487	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3384G>A	X.37:g.50350758C>T			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																				0.592	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		T	50350758	C	T	50350758	2	4	542	1	0	0	0	0	0	0	0	1	14302	912	32	2		2	SHROOM4	23	50350758	Silent	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	393531	50350758	104919802	78	29207											
USP51	158880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	55514285	55514285	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5677-01A-11D-1534-10	TCGA-CJ-5677-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	70fe0b18-52d1-40f7-b2a3-c808b3009610	d637e1a3-936e-4e97-b95e-bced6aec8594	g.chrX:55514285C>G	ENST00000500968.3	-	2	1170	c.1088G>C	c.(1087-1089)aGa>aCa	p.R363T	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	363	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R363T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GATTAGCCCTCTCAGGCCTAC	0.408																																																1	Substitution - Missense(1)	kidney(1)											112	109	110					X																	55514285		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1088G>C	X.37:g.55514285C>G	ENSP00000423333:p.Arg363Thr		Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	17.38	3.374862	0.61735	.	.	ENSG00000247746	ENST00000500968	T	0.02682	4.2	3.72	3.72	0.42706	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.09686	0.0238	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07790	-1.0754	10	0.49607	T	0.09	.	12.4273	0.55556	0.0:1.0:0.0:0.0	.	363	Q70EK9	UBP51_HUMAN	T	363	ENSP00000423333:R363T	ENSP00000423333:R363T	R	-	2	0	USP51	55531010	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.710000	0.74670	1.869000	0.54173	0.508000	0.49915	AGA		0.408	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		G	55514285	C	G	55514285	3	3	542	1	0	0	0	0	1	0	0	0	17088	913	32	4	1051	4	USP51	23	55514285	Missense_Mutation	SNP	C	TCGA-CJ-5677-01A-11D-1534-10	5163527	55514285	99756275	79	29208											
PHACTR4	65979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28764918	28764918	+	Intron	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:28764918G>T	ENST00000373839.3	+	3	277				PHACTR4_ENST00000373836.3_Missense_Mutation_p.R8I|PHACTR4_ENST00000493669.1_Intron	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4						actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.R8I(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GATGTCTCCAGACCGGTAAAT	0.393																																																1	Substitution - Missense(1)	kidney(1)											108	100	103					1																	28764918		1884	4106	5990	SO:0001627	intron_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.17-20678G>T	1.37:g.28764918G>T			A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039866	0.55003	.	.	ENSG00000204138	ENST00000373836	T	0.25250	1.81	5.41	5.41	0.78517	.	0.000000	0.45361	D	0.000362	T	0.42743	0.1216	.	.	.	0.48341	D	0.999632	D	0.58620	0.983	P	0.56700	0.804	T	0.14924	-1.0455	9	0.41790	T	0.15	.	15.9137	0.79491	0.0:0.0:1.0:0.0	.	8	Q8IZ21-2	.	I	8	ENSP00000362942:R8I	ENSP00000362942:R8I	R	+	2	0	PHACTR4	28637505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.761000	0.68801	2.533000	0.85409	0.563000	0.77884	AGA		0.393	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		T	28764918	G	T	28764918	1	4	543	0	1	0	0	0	0	0	0	0	11814	942	33	4		4	PHACTR4	1	28764918	Intron	SNP	G	TCGA-CJ-5678-01A-11D-1534-10		28764918	220485703	1	29209											
GBP7	388646	hgsc.bcm.edu;ucsc.edu	37	1	89615167	89615168	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:89615167_89615168delCT	ENST00000294671.2	-	7	1097_1098	c.959_960delAG	c.(958-960)cagfs	p.Q320fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	320						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q320L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGTTCTCACACTGGGCCAGAAC	0.574																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	388646			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.959_960delAG	1.37:g.89615167_89615168delCT	ENSP00000294671:p.Gln320fs			Frame_Shift_Del	DEL	ENST00000294671.2	37	CCDS720.1																																																																																				0.574	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		-	89615168	CT	-	89615167	7	5	543	1	0	1	0	1	0	0	0	0	6281	564	20	0	976	0	GBP7	1	89615167	Frame_Shift_Del	DEL	CT	TCGA-CJ-5678-01A-11D-1534-10	60850249	89615167	159635454	2	29210											
DDX20	11218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	112309100	112309100	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:112309100C>A	ENST00000369702.4	+	11	2674	c.2054C>A	c.(2053-2055)tCt>tAt	p.S685Y	DDX20_ENST00000475700.1_Missense_Mutation_p.S293Y	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	685					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.S685Y(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAAAGACTCTGAATCTACG	0.433																																																1	Substitution - Missense(1)	kidney(1)											77	81	79					1																	112309100		2203	4300	6503	SO:0001583	missense	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2054C>A	1.37:g.112309100C>A	ENSP00000358716:p.Ser685Tyr		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805332	0.31961	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.35421	1.31;1.84	5.52	1.37	0.22104	.	3.065640	0.00589	N	0.000346	T	0.22820	0.0551	L	0.54323	1.7	0.09310	N	1	P;P	0.44946	0.846;0.761	P;B	0.48141	0.568;0.275	T	0.04930	-1.0917	9	.	.	.	-0.0867	3.1756	0.06567	0.1218:0.5464:0.1187:0.2131	.	293;685	E9PJ60;Q9UHI6	.;DDX20_HUMAN	Y	685;293	ENSP00000358716:S685Y;ENSP00000435660:S293Y	.	S	+	2	0	DDX20	112110623	0.000000	0.05858	0.001000	0.08648	0.259000	0.26198	-0.193000	0.09573	0.818000	0.34468	0.655000	0.94253	TCT		0.433	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		A	112309100	C	A	112309100	3	1	543	1	0	0	0	0	1	0	0	0	4350	913	32	4	2096	4	DDX20	1	112309100	Missense_Mutation	SNP	C	TCGA-CJ-5678-01A-11D-1534-10	22693933	112309100	136941521	3	29211											
MUC1	80128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155160211	155160211	+	IGR	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:155160211G>T	ENST00000334634.4	+	0	3061				MUC1_ENST00000368390.3_Silent_p.I136I|MUC1_ENST00000368392.3_Silent_p.I145I|MUC1_ENST00000368398.3_Silent_p.I111I|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368395.1_Silent_p.I356I|MUC1_ENST00000337604.5_Silent_p.I154I|MUC1_ENST00000438413.1_Silent_p.I110I|MUC1_ENST00000457295.2_Silent_p.I145I|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368393.3_Silent_p.I154I|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Silent_p.I105I	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.I356I(1)|p.I145I(1)|p.I154I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGACGTCTGAGATCGTCAGGT	0.562																																																3	Substitution - coding silent(3)	kidney(3)											51	47	49					1																	155160211		2198	4298	6496	SO:0001628	intergenic_variant	4582				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155160211G>T			A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	ENST00000334634.4	37	CCDS1097.1																																																																																				0.562	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		T	155160211	G	T	155160211	1	4	543	0	1	0	0	0	0	0	0	0	9972	932	33	4		4	MUC1	1	155160211	IGR	SNP	G	TCGA-CJ-5678-01A-11D-1534-10	42851111	155160211	94090410	4	29212											
LRRC52	440699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	165513950	165513950	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:165513950A>T	ENST00000294818.1	+	1	707	c.417A>T	c.(415-417)ttA>ttT	p.L139F	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	139					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L139F(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTCACCTGTTATCGCTTCACA	0.522																																																1	Substitution - Missense(1)	kidney(1)											221	202	209					1																	165513950		2203	4300	6503	SO:0001583	missense	440699			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.417A>T	1.37:g.165513950A>T	ENSP00000294818:p.Leu139Phe		A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	A	4.588	0.109307	0.08780	.	.	ENSG00000162763	ENST00000294818	T	0.02498	4.27	5.5	-11.0	0.00169	.	2.470450	0.01240	N	0.008592	T	0.00580	0.0019	N	0.20445	0.575	0.32951	D	0.519719	B	0.06786	0.001	B	0.09377	0.004	T	0.37033	-0.9723	9	0.19147	T	0.46	.	12.1821	0.54218	0.1886:0.5184:0.2929:0.0	.	139	Q8N7C0	LRC52_HUMAN	F	139	ENSP00000294818:L139F	ENSP00000294818:L139F	L	+	3	2	LRRC52	163780574	0.000000	0.05858	0.000000	0.03702	0.869000	0.49853	-0.658000	0.05329	-2.599000	0.00452	-0.445000	0.05633	TTA		0.522	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		T	165513950	A	T	165513950	3	4	543	1	0	0	0	0	1	0	0	0	9012	446	16	5	419	5	LRRC52	1	165513950	Missense_Mutation	SNP	A	TCGA-CJ-5678-01A-11D-1534-10	10353739	165513950	83736671	5	29213											
DUSP27	92235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	167097025	167097025	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:167097025A>T	ENST00000361200.2	+	6	2823	c.2657A>T	c.(2656-2658)gAt>gTt	p.D886V	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.D886V|DUSP27_ENST00000271385.5_Missense_Mutation_p.D886V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	886					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D886V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGTGATGGGGATGAGGACACT	0.498																																																1	Substitution - Missense(1)	kidney(1)											113	94	100					1																	167097025		2203	4300	6503	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2657A>T	1.37:g.167097025A>T	ENSP00000354483:p.Asp886Val		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076636	0.36662	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03745	3.82;3.82;3.82	5.4	4.26	0.50523	.	0.136413	0.33813	N	0.004525	T	0.01730	0.0055	L	0.57536	1.79	0.58432	D	0.999998	B	0.34372	0.451	B	0.28139	0.086	T	0.46317	-0.9200	10	0.72032	D	0.01	-16.774	6.901	0.24283	0.7928:0.0:0.0725:0.1346	.	886	Q5VZP5	DUS27_HUMAN	V	886	ENSP00000354483:D886V;ENSP00000271385:D886V;ENSP00000404874:D886V	ENSP00000271385:D886V	D	+	2	0	DUSP27	165363649	1.000000	0.71417	0.661000	0.29709	0.550000	0.35303	3.487000	0.53222	0.842000	0.35045	0.523000	0.50628	GAT		0.498	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		T	167097025	A	T	167097025	3	4	543	1	0	0	0	0	1	0	0	0	4826	333	12	5	2675	5	DUSP27	1	167097025	Missense_Mutation	SNP	A	TCGA-CJ-5678-01A-11D-1534-10	1583075	167097025	82153596	6	29214											
GREB1	9687	broad.mit.edu;ucsc.edu	37	2	11738892	11738892	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr2:11738892C>A	ENST00000381486.2	+	15	2539	c.2239C>A	c.(2239-2241)Cag>Aag	p.Q747K	GREB1_ENST00000234142.5_Missense_Mutation_p.Q747K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	747						integral component of membrane (GO:0016021)		p.Q747K(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CACGGAGGCACAGACAAAATT	0.468																																					Ovarian(39;850 945 2785 23371 33093)											1	Substitution - Missense(1)	kidney(1)											190	191	191					2																	11738892		1953	4155	6108	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2239C>A	2.37:g.11738892C>A	ENSP00000370896:p.Gln747Lys		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	8.239	0.806497	0.16467	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.46063	3.2;3.2;0.88	5.16	4.28	0.50868	.	0.077265	0.53938	D	0.000044	T	0.41581	0.1165	M	0.64404	1.975	0.20926	N	0.999824	B;B	0.17667	0.013;0.023	B;B	0.12156	0.007;0.007	T	0.27806	-1.0063	10	0.31617	T	0.26	-34.3521	15.0228	0.71643	0.1435:0.8565:0.0:0.0	.	381;747	C9JIG0;Q4ZG55	.;GREB1_HUMAN	K	747;747;381	ENSP00000370896:Q747K;ENSP00000234142:Q747K;ENSP00000403886:Q381K	ENSP00000234142:Q747K	Q	+	1	0	GREB1	11656343	1.000000	0.71417	0.011000	0.14972	0.113000	0.19764	5.475000	0.66787	1.159000	0.42565	-0.182000	0.12963	CAG		0.468	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11738892	C	A	11738892	3	1	543	1	0	0	0	0	1	0	0	0	6762	479	17	4	2401	4	GREB1	2	11738892	Missense_Mutation	SNP	C	TCGA-CJ-5678-01A-11D-1534-10		11738892	231460481	7	29215											
FAM82A1	151393	hgsc.bcm.edu	37	2	38179040	38179040	+	Intron	SNP	C	C	T	rs539510009	byFrequency	TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr2:38179040C>T	ENST00000406384.1	+	3	646				RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000402091.3_Nonsense_Mutation_p.Q228*|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000407257.1_Nonsense_Mutation_p.Q228*|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Nonsense_Mutation_p.Q228*	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCCCGATCAACAAAATGGAAT	0.393																																																0													128	129	128					2																	38179040		2203	4299	6502	SO:0001627	intron_variant	0			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.453-22143C>T	2.37:g.38179040C>T			A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Nonsense_Mutation	SNP	ENST00000406384.1	37	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276318	0.59649	.	.	ENSG00000115841	ENST00000407257;ENST00000234195;ENST00000402091	.	.	.	3.9	-0.167	0.13347	.	1.318210	0.05399	N	0.540362	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.8879	1.2957	0.02069	0.3285:0.3131:0.2366:0.1218	.	.	.	.	X	228	.	ENSP00000234195:Q228X	Q	+	1	0	FAM82A1	38032544	0.000000	0.05858	0.001000	0.08648	0.189000	0.23516	-0.575000	0.05861	0.063000	0.16370	0.655000	0.94253	CAA		0.393	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		T	38179040	C	T	38179040	1	4	543	0	1	0	0	0	0	0	0	0	5632	479	17	2		2	FAM82A1	2	38179040	Intron	SNP	C	TCGA-CJ-5678-01A-11D-1534-10	26440148	38179040	205020333	8	29216											
CCDC148	130940	broad.mit.edu;ucsc.edu	37	2	159196824	159196824	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr2:159196824T>C	ENST00000283233.5	-	5	729	c.416A>G	c.(415-417)tAc>tGc	p.Y139C	CCDC148_ENST00000409889.1_Missense_Mutation_p.Y139C|CCDC148_ENST00000536771.1_Missense_Mutation_p.Y53C|CCDC148_ENST00000409187.1_Missense_Mutation_p.Y148C	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	139								p.Y139C(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGCTGTCTGTATTTTAGATC	0.353																																																1	Substitution - Missense(1)	kidney(1)											153	145	148					2																	159196824		2203	4300	6503	SO:0001583	missense	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.416A>G	2.37:g.159196824T>C	ENSP00000283233:p.Tyr139Cys		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548382	0.27652	.	.	ENSG00000153237	ENST00000283233;ENST00000409187;ENST00000536771;ENST00000409889	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.3	2.49	0.30216	.	.	.	.	.	T	0.36413	0.0966	L	0.48362	1.52	0.21064	N	0.999793	B;B	0.17667	0.009;0.023	B;B	0.16289	0.007;0.015	T	0.25710	-1.0124	9	0.39692	T	0.17	-1.43	4.4411	0.11575	0.1773:0.1061:0.0:0.7166	.	53;139	F5H839;Q8NFR7	.;CC148_HUMAN	C	139;148;53;139	ENSP00000283233:Y139C;ENSP00000386674:Y148C;ENSP00000443740:Y53C;ENSP00000386583:Y139C	ENSP00000283233:Y139C	Y	-	2	0	CCDC148	158905070	0.945000	0.32115	0.479000	0.27329	0.971000	0.66376	0.715000	0.25822	0.809000	0.34255	0.533000	0.62120	TAC		0.353	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		C	159196824	T	C	159196824	3	2	543	1	0	0	0	0	1	0	0	0	2784	1638	57	3	1451	3	CCDC148	2	159196824	Missense_Mutation	SNP	T	TCGA-CJ-5678-01A-11D-1534-10	121017784	159196824	84002549	9	29217											
CASP10	843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	202082403	202082403	+	Intron	SNP	C	C	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr2:202082403C>A	ENST00000272879.5	+	9	1599				CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.P460H|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000286186.6_Missense_Mutation_p.P503H|CASP10_ENST00000313728.7_Missense_Mutation_p.P436H|CASP10_ENST00000448480.1_Intron	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)	p.P503H(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ATGCCCCAGCCTGCTTTCACA	0.438																																																1	Substitution - Missense(1)	kidney(1)											161	145	150					2																	202082403		2203	4300	6503	SO:0001627	intron_variant	843			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1415+8118C>A	2.37:g.202082403C>A			Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259606	0.80246	.	.	ENSG00000003400	ENST00000286186;ENST00000346817;ENST00000313728	T;T;T	0.20738	2.05;2.05;2.05	5.3	5.3	0.74995	.	0.106321	0.64402	D	0.000003	T	0.45438	0.1342	.	.	.	0.80722	D	1	P;D;D	0.76494	0.875;0.984;0.999	P;P;D	0.70716	0.8;0.902;0.97	T	0.18493	-1.0335	9	0.32370	T	0.25	.	18.9644	0.92689	0.0:1.0:0.0:0.0	.	436;460;503	Q92851-6;Q92851-2;Q92851-4	.;.;.	H	503;460;436	ENSP00000286186:P503H;ENSP00000237865:P460H;ENSP00000314599:P436H	ENSP00000286186:P503H	P	+	2	0	CASP10	201790648	0.985000	0.35326	0.906000	0.35671	0.922000	0.55478	4.219000	0.58561	2.473000	0.83533	0.655000	0.94253	CCT		0.438	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		A	202082403	C	A	202082403	1	1	543	0	1	0	0	0	0	0	0	0	2671	681	24	4		4	CASP10	2	202082403	Intron	SNP	C	TCGA-CJ-5678-01A-11D-1534-10	42885579	202082403	41116970	10	29218											
INO80D	54891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	206870035	206870035	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr2:206870035C>G	ENST00000403263.1	-	11	2545	c.2141G>C	c.(2140-2142)gGg>gCg	p.G714A	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	714					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G714A(1)|p.G609A(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CAATAGCTCCCCTAGGTCTGT	0.488																																																2	Substitution - Missense(2)	kidney(2)											110	103	105					2																	206870035		1917	4133	6050	SO:0001583	missense	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2141G>C	2.37:g.206870035C>G	ENSP00000384198:p.Gly714Ala		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	4.378	0.069761	0.08436	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.37752	1.18	5.81	4.93	0.64822	.	0.110120	0.64402	D	0.000009	T	0.21718	0.0523	N	0.14661	0.345	0.53688	D	0.999972	B	0.16603	0.018	B	0.20184	0.028	T	0.09662	-1.0664	10	0.02654	T	1	.	16.9094	0.86137	0.0:0.8719:0.1281:0.0	.	714	Q53TQ3-2	.	A	714	ENSP00000384198:G714A	ENSP00000233270:G714A	G	-	2	0	INO80D	206578280	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	4.344000	0.59354	1.442000	0.47568	-0.274000	0.10170	GGG		0.488	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		G	206870035	C	G	206870035	3	3	543	1	0	0	0	0	1	0	0	0	7751	623	22	4	946	4	INO80D	2	206870035	Missense_Mutation	SNP	C	TCGA-CJ-5678-01A-11D-1534-10	4787632	206870035	36329338	11	29219											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47164730	47164730	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr3:47164730T>A	ENST00000409792.3	-	3	1438	c.1396A>T	c.(1396-1398)Aag>Tag	p.K466*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	466					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.K466*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TATGTCTTCTTATACTCTTCT	0.458			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	1	Substitution - Nonsense(1)	kidney(1)											252	197	213					3																	47164730		692	1591	2283	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1396A>T	3.37:g.47164730T>A	ENSP00000386759:p.Lys466*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	35	5.433099	0.96150	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7977	0.52110	0.0:0.0:0.1465:0.8535	.	.	.	.	X	466;466;466;422	.	.	K	-	1	0	SETD2	47139734	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.377000	0.44300	2.226000	0.72624	0.533000	0.62120	AAG		0.458	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47164730	T	A	47164730	4	1	543	1	0	0	0	0	0	1	0	0	14137	1763	61	5	6374	5	SETD2	3	47164730	Nonsense_Mutation	SNP	T	TCGA-CJ-5678-01A-11D-1534-10		47164730	150857700	12	29220											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52620517	52620518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr3:52620517_52620518insC	ENST00000296302.7	-	20	3311_3312	c.3310_3311insG	c.(3310-3312)gcafs	p.A1104fs	PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.A1072fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.A1119fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.A1104fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.A1079fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.A1104fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.A1119fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.A1079fs			Q86U86	PB1_HUMAN	polybromo 1	1104					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACCTTTATCTGCATTTGCAAAT	0.45			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3311dupG	3.37:g.52620518_52620518dupC	ENSP00000296302:p.Ala1104fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																					0.45	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52620518	-	C	52620517	7	5	543	1	0	1	1	0	0	0	0	0	11493	1319	46	0	1633	0	PBRM1	3	52620517	Frame_Shift_Ins	INS	-	TCGA-CJ-5678-01A-11D-1534-10	5455787	52620517	145401913	13	29221											
NR1I2	8856	broad.mit.edu	37	3	119528962	119528962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr3:119528962C>A	ENST00000337940.4	+	3	417	c.369C>A	c.(367-369)tgC>tgA	p.C123*	NR1I2_ENST00000393716.2_Nonsense_Mutation_p.C84*|NR1I2_ENST00000466380.1_Nonsense_Mutation_p.C84*	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	84	Hinge.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.C123*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	AGGGCGCCTGCGAGATCACCC	0.692																																																1	Substitution - Nonsense(1)	kidney(1)											19	24	22					3																	119528962		2202	4300	6502	SO:0001587	stop_gained	8856			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.369C>A	3.37:g.119528962C>A	ENSP00000336528:p.Cys123*		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Nonsense_Mutation	SNP	ENST00000337940.4	37	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927460	0.92389	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	.	.	.	4.86	-0.372	0.12520	.	0.102085	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3707	0.16138	0.0:0.4899:0.1456:0.3645	.	.	.	.	X	84;84;123	.	ENSP00000336528:C123X	C	+	3	2	NR1I2	121011652	0.777000	0.28628	0.959000	0.39883	0.994000	0.84299	0.393000	0.20817	0.009000	0.14813	0.655000	0.94253	TGC		0.692	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			A	119528962	C	A	119528962	4	1	543	1	0	0	0	0	0	1	0	0	10622	776	27	4	379	4	NR1I2	3	119528962	Nonsense_Mutation	SNP	C	TCGA-CJ-5678-01A-11D-1534-10	66908445	119528962	78493468	14	29222											
UBA5	79876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132387762	132387762	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr3:132387762A>G	ENST00000356232.4	+	4	1470	c.398A>G	c.(397-399)cAt>cGt	p.H133R	UBA5_ENST00000473651.1_Missense_Mutation_p.H133R|UBA5_ENST00000493720.2_Missense_Mutation_p.H133R|UBA5_ENST00000494238.2_Missense_Mutation_p.H77R|UBA5_ENST00000264991.4_Missense_Mutation_p.H77R	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	133					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)	p.H133R(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCAGCAGAACATACTCTGAGG	0.318																																																1	Substitution - Missense(1)	kidney(1)											122	116	118					3																	132387762		2203	4298	6501	SO:0001583	missense	79876			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.398A>G	3.37:g.132387762A>G	ENSP00000348565:p.His133Arg		A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.029051	0.35797	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000468022;ENST00000473651;ENST00000494238;ENST00000464068;ENST00000489361	T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.43	5.43	0.79202	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.086608	0.85682	D	0.000000	T	0.08846	0.0219	N	0.00583	-1.355	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.25117	-1.0141	10	0.25106	T	0.35	-9.15	15.4756	0.75478	1.0:0.0:0.0:0.0	.	133;133	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	R	77;133;133;77;133;77;43;77	ENSP00000264991:H77R;ENSP00000348565:H133R;ENSP00000417879:H133R;ENSP00000418569:H77R;ENSP00000424984:H133R;ENSP00000418807:H77R;ENSP00000420055:H43R;ENSP00000417905:H77R	ENSP00000264991:H77R	H	+	2	0	UBA5	133870452	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.437000	0.80417	2.056000	0.61249	0.460000	0.39030	CAT		0.318	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		G	132387762	A	G	132387762	3	3	543	1	0	0	0	0	1	0	0	0	16835	217	8	3	412	3	UBA5	3	132387762	Missense_Mutation	SNP	A	TCGA-CJ-5678-01A-11D-1534-10	12858800	132387762	65634668	15	29223											
CORIN	10699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	47788855	47788855	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr4:47788855G>T	ENST00000273857.4	-	3	295	c.296C>A	c.(295-297)aCa>aAa	p.T99K	CORIN_ENST00000504584.1_Missense_Mutation_p.T99K|CORIN_ENST00000505909.1_Missense_Mutation_p.T99K|CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000502252.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	99					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.T99K(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AATTGTATTTGTAAGAATAAC	0.433																																																1	Substitution - Missense(1)	kidney(1)											101	93	96					4																	47788855		2203	4300	6503	SO:0001583	missense	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.296C>A	4.37:g.47788855G>T	ENSP00000273857:p.Thr99Lys		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	8.238	0.806162	0.16467	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.92348	-2.57;-2.42;-3.02	4.66	0.383	0.16239	.	0.846097	0.10410	N	0.678095	D	0.82430	0.5035	N	0.19112	0.55	0.09310	N	1	B;B;B	0.20671	0.001;0.019;0.047	B;B;B	0.14023	0.004;0.009;0.01	T	0.68682	-0.5344	10	0.39692	T	0.17	.	4.0335	0.09719	0.2579:0.3791:0.363:0.0	.	99;99;99	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	K	99	ENSP00000273857:T99K;ENSP00000425401:T99K;ENSP00000423216:T99K	ENSP00000273857:T99K	T	-	2	0	CORIN	47483612	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.195000	0.09546	-0.051000	0.13334	-0.253000	0.11424	ACA		0.433	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			T	47788855	G	T	47788855	3	4	543	1	0	0	0	0	1	0	0	0	3754	1377	48	4	2912	4	CORIN	4	47788855	Missense_Mutation	SNP	G	TCGA-CJ-5678-01A-11D-1534-10		47788855	143365421	16	29224											
C4orf33	132321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	130023911	130023911	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr4:130023911C>G	ENST00000281146.5	+	2	867	c.146C>G	c.(145-147)cCa>cGa	p.P49R	C4orf33_ENST00000425929.1_Missense_Mutation_p.P49R|C4orf33_ENST00000502887.1_Missense_Mutation_p.P49R	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	49								p.P49R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CTTGGAGAACCAGGAAAACCT	0.413																																																1	Substitution - Missense(1)	kidney(1)											137	136	137					4																	130023911		2203	4300	6503	SO:0001583	missense	132321			AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.146C>G	4.37:g.130023911C>G	ENSP00000281146:p.Pro49Arg		D3DNY2|Q6PJF3|Q8NBC5	Missense_Mutation	SNP	ENST00000281146.5	37	CCDS3741.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986155	0.74589	.	.	ENSG00000151470	ENST00000281146;ENST00000502887;ENST00000425929;ENST00000508673;ENST00000508622	T;T;T;T;T	0.48522	1.43;1.43;1.43;0.87;0.81	4.59	4.59	0.56863	.	0.106561	0.64402	D	0.000003	T	0.59865	0.2225	M	0.78637	2.42	0.53688	D	0.999972	P;D	0.53462	0.904;0.96	P;P	0.54312	0.667;0.748	T	0.64419	-0.6412	10	0.66056	D	0.02	-31.7291	10.3101	0.43704	0.0:0.9073:0.0:0.0927	.	49;49	D6RIT3;Q8N1A6	.;CD033_HUMAN	R	49	ENSP00000281146:P49R;ENSP00000427406:P49R;ENSP00000401090:P49R;ENSP00000427096:P49R;ENSP00000427431:P49R	ENSP00000281146:P49R	P	+	2	0	C4orf33	130243361	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.376000	0.66178	2.524000	0.85096	0.655000	0.94253	CCA		0.413	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	NM_173487		G	130023911	C	G	130023911	3	3	543	1	0	0	0	0	1	0	0	0	2265	594	21	4	148	4	C4orf33	4	130023911	Missense_Mutation	SNP	C	TCGA-CJ-5678-01A-11D-1534-10	82235056	130023911	61130365	17	29225											
NSUN2	54888	hgsc.bcm.edu;ucsc.edu	37	5	6620322	6620322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr5:6620322delC	ENST00000264670.6	-	7	1023	c.712delG	c.(712-714)gtgfs	p.V239fs	NSUN2_ENST00000506139.1_Frame_Shift_Del_p.V204fs|NSUN2_ENST00000539938.1_Frame_Shift_Del_p.V3fs|NSUN2_ENST00000505264.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	239					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TGGTTGACCACCATGATGCAG	0.507																																																0													103	102	103					5																	6620322		2203	4300	6503	SO:0001589	frameshift_variant	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.712delG	5.37:g.6620322delC	ENSP00000264670:p.Val239fs		A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Frame_Shift_Del	DEL	ENST00000264670.6	37	CCDS3869.1																																																																																				0.507	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		-	6620322	C	-	6620322	7	5	543	1	0	1	0	1	0	0	0	0	10680	507	18	0	1643	0	NSUN2	5	6620322	Frame_Shift_Del	DEL	C	TCGA-CJ-5678-01A-11D-1534-10		6620322	174294938	18	29226											
CARD6	84674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	40843790	40843790	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr5:40843790G>A	ENST00000254691.5	+	2	1019	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	CARD6_ENST00000381677.3_Missense_Mutation_p.E274K	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	274	Asp/Glu-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.E274K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATTGGAGGAGGAACAGGAGAA	0.398																																																1	Substitution - Missense(1)	kidney(1)											53	53	53					5																	40843790		2203	4300	6503	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.820G>A	5.37:g.40843790G>A	ENSP00000254691:p.Glu274Lys		Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607911	0.66558	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.43688	2.45;0.94	5.09	5.09	0.68999	.	0.145914	0.31381	N	0.007747	T	0.49098	0.1537	L	0.32530	0.975	0.30948	N	0.725038	D	0.76494	0.999	D	0.62955	0.909	T	0.48080	-0.9066	10	0.34782	T	0.22	-19.7314	13.8653	0.63585	0.0:0.0:1.0:0.0	.	274	Q9BX69	CARD6_HUMAN	K	274	ENSP00000254691:E274K;ENSP00000371093:E274K	ENSP00000254691:E274K	E	+	1	0	CARD6	40879547	0.985000	0.35326	0.981000	0.43875	0.951000	0.60555	4.093000	0.57714	2.662000	0.90505	0.655000	0.94253	GAA		0.398	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			A	40843790	G	A	40843790	3	1	543	1	0	0	0	0	1	0	0	0	2652	1175	41	2	826	2	CARD6	5	40843790	Missense_Mutation	SNP	G	TCGA-CJ-5678-01A-11D-1534-10	34223468	40843790	140071470	19	29227											
YTHDC2	64848	hgsc.bcm.edu	37	5	112899158	112899165	+	Frame_Shift_Del	DEL	TAATTGTA	TAATTGTA	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	TAATTGTA	TAATTGTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr5:112899158_112899165delTAATTGTA	ENST00000161863.4	+	19	2624_2631	c.2411_2418delTAATTGTA	c.(2410-2418)ttaattgtafs	p.LIV804fs		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	804					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CCACCAGCTTTAATTGTAAGAAATGCTG	0.327																																																0																																										SO:0001589	frameshift_variant	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2411_2418delTAATTGTA	5.37:g.112899158_112899165delTAATTGTA	ENSP00000161863:p.Leu804fs		B2RP66	Frame_Shift_Del	DEL	ENST00000161863.4	37	CCDS4113.1																																																																																				0.327	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		-	112899165	TAATTGTA	-	112899158	7	5	543	1	0	1	0	1	0	0	0	0	17502	1764	61	0	2485	0	YTHDC2	5	112899158	Frame_Shift_Del	DEL	TAATTGTA	TCGA-CJ-5678-01A-11D-1534-10	72055368	112899158	68016102	20	29228											
ABLIM3	22885	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	148629402	148629402	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr5:148629402A>C	ENST00000506113.1	+	18	2206	c.1724A>C	c.(1723-1725)gAc>gCc	p.D575A	ABLIM3_ENST00000326685.7_Missense_Mutation_p.D480A|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.D464A|ABLIM3_ENST00000504238.1_Missense_Mutation_p.D464A|ABLIM3_ENST00000517451.1_Missense_Mutation_p.D61A|ABLIM3_ENST00000309868.7_Missense_Mutation_p.D575A|ABLIM3_ENST00000508983.1_Missense_Mutation_p.D542A|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	575					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.D575A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCTGGCTGACAGTGGTAAG	0.498																																																1	Substitution - Missense(1)	kidney(1)											174	148	157					5																	148629402		2203	4300	6503	SO:0001583	missense	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1724A>C	5.37:g.148629402A>C	ENSP00000425394:p.Asp575Ala		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124405	0.56613	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32	4.83	4.83	0.62350	.	0.243912	0.39615	N	0.001313	T	0.18593	0.0446	N	0.08118	0	0.47153	D	0.999338	B;B;B;B	0.29085	0.073;0.044;0.044;0.232	B;B;B;B	0.24006	0.04;0.026;0.05;0.046	T	0.09037	-1.0693	10	0.15066	T	0.55	.	14.3691	0.66828	1.0:0.0:0.0:0.0	.	61;480;464;575	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	A	480;464;575;575;464;542;61;60	ENSP00000315841:D480A;ENSP00000348938:D464A;ENSP00000310309:D575A;ENSP00000425394:D575A;ENSP00000421183:D464A;ENSP00000420855:D542A;ENSP00000430150:D61A	ENSP00000310309:D575A	D	+	2	0	ABLIM3	148609595	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.092000	0.76930	1.933000	0.56026	0.459000	0.35465	GAC		0.498	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		C	148629402	A	C	148629402	3	2	543	1	0	0	0	0	1	0	0	0	96	275	10	5	1794	5	ABLIM3	5	148629402	Missense_Mutation	SNP	A	TCGA-CJ-5678-01A-11D-1534-10	35730244	148629402	32285858	21	29229											
RASGEF1C	255426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179538533	179538533	+	Silent	SNP	T	T	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr5:179538533T>C	ENST00000393371.2	-	11	1523	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K	RASGEF1C_ENST00000522500.1_Silent_p.K258K|RASGEF1C_ENST00000361132.4_Silent_p.K409K			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	409	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K409K(2)		breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCACTTGTTTCCAGGTGA	0.587																																																2	Substitution - coding silent(2)	kidney(2)											159	108	125					5																	179538533		2203	4300	6503	SO:0001819	synonymous_variant	255426			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1227A>G	5.37:g.179538533T>C			D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	ENST00000393371.2	37	CCDS4452.1																																																																																				0.587	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		C	179538533	T	C	179538533	2	2	543	1	0	0	0	0	0	0	0	1	13077	1722	60	3		3	RASGEF1C	5	179538533	Silent	SNP	T	TCGA-CJ-5678-01A-11D-1534-10	30909131	179538533	1376727	22	29230											
DSP	1832	broad.mit.edu;hgsc.bcm.edu	37	6	7583787	7583787	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:7583787G>T	ENST00000379802.3	+	24	6633	c.6292G>T	c.(6292-6294)Gat>Tat	p.D2098Y	DSP_ENST00000418664.2_Missense_Mutation_p.D1499Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2098	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D2098Y(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGTTTTGATGATCCATTTTC	0.453																																																1	Substitution - Missense(1)	kidney(1)											113	118	116					6																	7583787		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6292G>T	6.37:g.7583787G>T	ENSP00000369129:p.Asp2098Tyr		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214763	0.79352	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.74842	-0.88;-0.88	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000015	D	0.83271	0.5218	M	0.67700	2.07	0.43841	D	0.996424	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85094	0.0953	10	0.87932	D	0	.	18.6316	0.91361	0.0:0.0:1.0:0.0	.	1546;2098	Q4LE79;P15924	.;DESP_HUMAN	Y	2098;1499	ENSP00000369129:D2098Y;ENSP00000396591:D1499Y	ENSP00000369129:D2098Y	D	+	1	0	DSP	7528786	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	9.813000	0.99286	2.489000	0.83994	0.655000	0.94253	GAT		0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		T	7583787	G	T	7583787	3	4	543	1	0	0	0	0	1	0	0	0	4783	1290	45	4	6386	4	DSP	6	7583787	Missense_Mutation	SNP	G	TCGA-CJ-5678-01A-11D-1534-10		7583787	163531280	23	29231											
ZKSCAN3	80317	broad.mit.edu;hgsc.bcm.edu	37	6	28333631	28333631	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:28333631A>G	ENST00000377255.3	+	7	1483	c.1186A>G	c.(1186-1188)Aag>Gag	p.K396E	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K248E|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K396E	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	396					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K396E(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CACTGGGGAGAAGCCCTATGA	0.512																																																1	Substitution - Missense(1)	kidney(1)											83	83	83					6																	28333631		2203	4300	6503	SO:0001583	missense	80317			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1186A>G	6.37:g.28333631A>G	ENSP00000366465:p.Lys396Glu		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.390755	0.82902	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.27104	1.69;1.69;1.69	3.97	3.97	0.46021	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37433	0.1003	M	0.70787	2.145	0.33052	D	0.532899	D	0.69078	0.997	D	0.79784	0.993	T	0.37619	-0.9698	9	0.87932	D	0	.	11.9945	0.53194	1.0:0.0:0.0:0.0	.	396	Q9BRR0	ZKSC3_HUMAN	E	396;248;396	ENSP00000252211:K396E;ENSP00000341883:K248E;ENSP00000366465:K396E	ENSP00000252211:K396E	K	+	1	0	ZKSCAN3	28441610	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.280000	0.51677	1.666000	0.50821	0.533000	0.62120	AAG		0.512	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		G	28333631	A	G	28333631	3	3	543	1	0	0	0	0	1	0	0	0	17693	247	9	3	1204	3	ZKSCAN3	6	28333631	Missense_Mutation	SNP	A	TCGA-CJ-5678-01A-11D-1534-10	20749844	28333631	142781436	24	29232											
PRICKLE4	29964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41752690	41752690	+	Silent	SNP	C	C	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:41752690C>T	ENST00000394260.1	+	2	138	c.138C>T	c.(136-138)gcC>gcT	p.A46A	TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000359201.5_Silent_p.A86A|PRICKLE4_ENST00000463606.1_3'UTR|PRICKLE4_ENST00000394259.1_Silent_p.A46A|PRICKLE4_ENST00000458694.1_Silent_p.A86A|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394263.1_Silent_p.A86A			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	46	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A86A(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACTGCCTGGCCCTTGGGGAGG	0.597																																																2	Substitution - coding silent(2)	kidney(2)											58	66	63					6																	41752690		2203	4300	6503	SO:0001819	synonymous_variant	29964			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"chromosome 6 open reading frame 49"	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.138C>T	6.37:g.41752690C>T			A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Silent	SNP	ENST00000394260.1	37																																																																																					0.597	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		T	41752690	C	T	41752690	2	4	543	1	0	0	0	0	0	0	0	1	12494	610	22	2		2	PRICKLE4	6	41752690	Silent	SNP	C	TCGA-CJ-5678-01A-11D-1534-10	13419059	41752690	129362377	25	29233											
ZNF451	26036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	57013144	57013144	+	Missense_Mutation	SNP	G	G	A	rs536968776	byFrequency	TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:57013144G>A	ENST00000370706.4	+	10	2505	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R754H|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R754H|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	754					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R754H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTGTGGTTTCGCTGCAGTTTA	0.413													G|||	5	0.000998403	0.0	0.0	5008	,	,		21181	0.0		0.0	False		,,,				2504	0.0051															2	Substitution - Missense(2)	kidney(2)											70	65	67					6																	57013144		2203	4300	6503	SO:0001583	missense	26036			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2261G>A	6.37:g.57013144G>A	ENSP00000359740:p.Arg754His		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660057	0.29515	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.19806	2.12;2.13;2.12	4.99	4.1	0.47936	Zinc finger, C2H2-like (1);	0.316196	0.34932	N	0.003578	T	0.09774	0.0240	L	0.49350	1.555	0.80722	D	1	B;P;P;P	0.41450	0.445;0.561;0.75;0.561	B;B;B;B	0.31337	0.058;0.128;0.091;0.077	T	0.07214	-1.0784	10	0.66056	D	0.02	-13.5695	13.0991	0.59210	0.0785:0.0:0.9215:0.0	.	754;754;754;754	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	H	754	ENSP00000359740:R754H;ENSP00000350083:R754H;ENSP00000421645:R754H	ENSP00000350083:R754H	R	+	2	0	ZNF451	57121103	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	3.846000	0.55888	2.453000	0.82957	0.557000	0.71058	CGC		0.413	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		A	57013144	G	A	57013144	3	1	543	1	0	0	0	0	1	0	0	0	17927	1087	38	1	2299	1	ZNF451	6	57013144	Missense_Mutation	SNP	G	TCGA-CJ-5678-01A-11D-1534-10	15260454	57013144	114101923	26	29234											
C6orf58	352999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	127902329	127902329	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:127902329T>G	ENST00000329722.7	+	4	588	c.576T>G	c.(574-576)taT>taG	p.Y192*		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	192						extracellular vesicular exosome (GO:0070062)		p.Y192*(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TACCTTAGTATTTGCAGTCAC	0.323																																																1	Substitution - Nonsense(1)	kidney(1)											94	90	91					6																	127902329		2203	4297	6500	SO:0001587	stop_gained	352999			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.576T>G	6.37:g.127902329T>G	ENSP00000328069:p.Tyr192*		B4E1I0|Q5VUP2	Nonsense_Mutation	SNP	ENST00000329722.7	37	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.524297	0.64747	.	.	ENSG00000184530	ENST00000329722	.	.	.	4.07	0.0556	0.14315	.	0.681047	0.14627	N	0.308036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.604	2.4153	0.04435	0.2082:0.2362:0.0:0.5556	.	.	.	.	X	192	.	ENSP00000328069:Y192X	Y	+	3	2	C6orf58	127944022	0.002000	0.14202	0.001000	0.08648	0.366000	0.29705	-0.557000	0.05985	0.244000	0.21351	0.477000	0.44152	TAT		0.323	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		G	127902329	T	G	127902329	4	3	543	1	0	0	0	0	0	1	0	0	2369	1500	52	5	590	5	C6orf58	6	127902329	Nonsense_Mutation	SNP	T	TCGA-CJ-5678-01A-11D-1534-10	70889185	127902329	43212738	27	29235											
GRM1	2911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	146720336	146720336	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:146720336G>T	ENST00000282753.1	+	7	2396	c.2161G>T	c.(2161-2163)Gtg>Ttg	p.V721L	GRM1_ENST00000492807.2_Missense_Mutation_p.V721L|GRM1_ENST00000392299.2_Missense_Mutation_p.V721L|GRM1_ENST00000361719.2_Missense_Mutation_p.V721L|GRM1_ENST00000507907.1_Missense_Mutation_p.V721L|GRM1_ENST00000355289.4_Missense_Mutation_p.V721L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	721					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.V721L(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACTAACCCTGGTGGTAACCCT	0.507																																																2	Substitution - Missense(2)	kidney(2)											116	111	113					6																	146720336		2203	4300	6503	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2161G>T	6.37:g.146720336G>T	ENSP00000282753:p.Val721Leu		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457723	0.63401	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.051742	0.85682	D	0.000000	T	0.81814	0.4902	L	0.39085	1.19	0.58432	D	0.999997	B;P;B	0.39576	0.364;0.679;0.171	B;B;B	0.42522	0.087;0.39;0.087	D	0.84403	0.0561	10	0.62326	D	0.03	.	19.4081	0.94656	0.0:0.0:1.0:0.0	.	721;721;721	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	L	721	ENSP00000354896:V721L;ENSP00000376119:V721L;ENSP00000424095:V721L;ENSP00000282753:V721L;ENSP00000347437:V721L;ENSP00000425599:V721L	ENSP00000282753:V721L	V	+	1	0	GRM1	146762029	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	9.869000	0.99810	2.604000	0.88044	0.585000	0.79938	GTG		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		T	146720336	G	T	146720336	3	4	543	1	0	0	0	0	1	0	0	0	6798	1261	44	4	2187	4	GRM1	6	146720336	Missense_Mutation	SNP	G	TCGA-CJ-5678-01A-11D-1534-10	18818007	146720336	24394731	28	29236											
ESR1	2099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152382174	152382174	+	Silent	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:152382174G>T	ENST00000206249.3	+	6	1646	c.1284G>T	c.(1282-1284)ctG>ctT	p.L428L	ESR1_ENST00000406599.1_Silent_p.L167L|ESR1_ENST00000338799.5_Silent_p.L428L|ESR1_ENST00000456483.2_Silent_p.L316L|ESR1_ENST00000440973.1_Silent_p.L428L|ESR1_ENST00000427531.2_Silent_p.L255L|ESR1_ENST00000443427.1_Silent_p.L428L	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	428	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L428L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TCGACATGCTGCTGGCTACAT	0.378																																																1	Substitution - coding silent(1)	kidney(1)											108	98	102					6																	152382174		2203	4300	6503	SO:0001819	synonymous_variant	2099			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1284G>T	6.37:g.152382174G>T			Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	9.079	0.998820	0.19121	.	.	ENSG00000091831	ENST00000427531	.	.	.	5.38	2.49	0.30216	.	.	.	.	.	T	0.41627	0.1167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29731	-1.0002	4	.	.	.	.	7.6225	0.28193	0.2047:0.119:0.6763:0.0	.	.	.	.	F	333	.	.	C	+	2	0	ESR1	152423867	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	1.664000	0.37439	0.662000	0.31006	-0.122000	0.15005	TGC		0.378	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			T	152382174	G	T	152382174	2	4	543	1	0	0	0	0	0	0	0	1	5258	1306	46	4		4	ESR1	6	152382174	Silent	SNP	G	TCGA-CJ-5678-01A-11D-1534-10	5661838	152382174	18732893	29	29237											
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152473119	152473120	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:152473119_152473120delAC	ENST00000367255.5	-	134	24887_24888	c.24286_24287delGT	c.(24286-24288)gtcfs	p.V8096fs	SYNE1_ENST00000423061.1_Frame_Shift_Del_p.V8025fs|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.V8025fs|SYNE1_ENST00000356820.4_Frame_Shift_Del_p.V2620fs|SYNE1_ENST00000354674.4_Frame_Shift_Del_p.V251fs|SYNE1_ENST00000341594.5_Frame_Shift_Del_p.V7708fs|SYNE1_ENST00000539504.1_Frame_Shift_Del_p.V251fs|SYNE1_ENST00000265368.4_Frame_Shift_Del_p.V8096fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8096					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATGGAGGTGACACGCTTTTGC	0.525										HNSCC(10;0.0054)																																						0																																										SO:0001589	frameshift_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24286_24287delGT	6.37:g.152473121_152473122delAC	ENSP00000356224:p.Val8096fs		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Del	DEL	ENST00000367255.5	37	CCDS5236.2																																																																																				0.525	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		-	152473120	AC	-	152473119	7	5	543	1	0	1	0	1	0	0	0	0	15450	275	10	0	2231	0	SYNE1	6	152473119	Frame_Shift_Del	DEL	AC	TCGA-CJ-5678-01A-11D-1534-10	90945	152473119	18641948	30	29238											
TNRC18	84629	broad.mit.edu	37	7	5352533	5352533	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr7:5352533delG	ENST00000430969.1	-	27	8337	c.7989delC	c.(7987-7989)tccfs	p.S2671fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.S2671fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2671	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aggaagaggaggaggaggagg	0.632																																																0													6	7	7					7																	5352533		1540	3535	5075	SO:0001589	frameshift_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7989delC	7.37:g.5352533delG	ENSP00000395538:p.Ser2671fs		A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	CCDS47534.1																																																																																				0.632	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				-	5352533	G	-	5352533	7	5	543	1	0	1	0	1	0	0	0	0	16344	987	35	0	933	0	TNRC18	7	5352533	Frame_Shift_Del	DEL	G	TCGA-CJ-5678-01A-11D-1534-10		5352533	153786130	31	29239											
MLL3	58508	broad.mit.edu	37	7	151962258	151962258	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr7:151962258G>C	ENST00000262189.6	-	8	1267	c.1049C>G	c.(1048-1050)cCg>cGg	p.P350R	KMT2C_ENST00000355193.2_Missense_Mutation_p.P350R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	350					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P350R(2)									GAGGTCTCCCGGGCTGTCGCA	0.398																																																2	Substitution - Missense(2)	kidney(2)											139	127	131					7																	151962258		2203	4296	6499	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1049C>G	7.37:g.151962258G>C	ENSP00000262189:p.Pro350Arg		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038389	0.35989	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98987	-5.3;-5.3	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.41605	U	0.000854	D	0.98982	0.9653	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99884	1.1118	10	0.59425	D	0.04	.	17.9157	0.88950	0.0:0.0:1.0:0.0	.	350	Q8NEZ4	MLL3_HUMAN	R	350	ENSP00000262189:P350R;ENSP00000347325:P350R	ENSP00000262189:P350R	P	-	2	0	MLL3	151593191	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	9.809000	0.99208	2.271000	0.75665	0.557000	0.71058	CCG		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151962258	G	C	151962258	3	2	543	1	0	0	0	0	1	0	0	0	9624	1116	39	4	13894	4	MLL3	7	151962258	Missense_Mutation	SNP	G	TCGA-CJ-5678-01A-11D-1534-10	146609725	151962258	7176405	32	29240											
PPP2CB	5516	broad.mit.edu;ucsc.edu	37	8	30651536	30651536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr8:30651536G>T	ENST00000221138.4	-	5	1085	c.635C>A	c.(634-636)tCa>tAa	p.S212*	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	212					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.S212*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	ACCACGTGGTGAAATACCCCA	0.443																																																1	Substitution - Nonsense(1)	kidney(1)											73	57	62					8																	30651536		2203	4300	6503	SO:0001587	stop_gained	5516				CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9300	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, beta isoform"	176916	"protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.635C>A	8.37:g.30651536G>T	ENSP00000221138:p.Ser212*		D3DSV4|P11082|Q6FHK5	Nonsense_Mutation	SNP	ENST00000221138.4	37	CCDS6079.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667755	0.88348	.	.	ENSG00000104695	ENST00000221138;ENST00000406655;ENST00000520334;ENST00000518243	.	.	.	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.1122	18.5681	0.91124	0.0:0.0:1.0:0.0	.	.	.	.	X	212;212;50;165	.	ENSP00000221138:S212X	S	-	2	0	PPP2CB	30771078	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.473000	0.97714	2.536000	0.85505	0.655000	0.94253	TCA		0.443	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552		T	30651536	G	T	30651536	4	4	543	1	0	0	0	0	0	1	0	0	12386	1294	45	4	306	4	PPP2CB	8	30651536	Nonsense_Mutation	SNP	G	TCGA-CJ-5678-01A-11D-1534-10		30651536	115712486	33	29241											
UBR5	51366	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	103297526	103297526	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr8:103297526A>G	ENST00000520539.1	-	40	6131	c.5525T>C	c.(5524-5526)aTg>aCg	p.M1842T	UBR5_ENST00000521922.1_Missense_Mutation_p.M1836T|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.M1842T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1842					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.M1842T(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATACTGACCATCCAGTTCCA	0.378																																					Ovarian(131;96 1741 5634 7352 27489)											1	Substitution - Missense(1)	kidney(1)											120	112	115					8																	103297526		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5525T>C	8.37:g.103297526A>G	ENSP00000429084:p.Met1842Thr		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917605	0.52546	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49139	0.79;0.79;0.79	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	L	0.42245	1.32	0.80722	D	1	P;P	0.40431	0.717;0.717	P;P	0.52189	0.692;0.692	T	0.59032	-0.7530	10	0.87932	D	0	.	16.0203	0.80478	1.0:0.0:0.0:0.0	.	1836;1842	E7EMW7;O95071	.;UBR5_HUMAN	T	1842;1842;1836	ENSP00000429084:M1842T;ENSP00000220959:M1842T;ENSP00000427819:M1836T	ENSP00000220959:M1842T	M	-	2	0	UBR5	103366702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.177000	0.69029	0.460000	0.39030	ATG		0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		G	103297526	A	G	103297526	3	3	543	1	0	0	0	0	1	0	0	0	16910	217	8	3	2954	3	UBR5	8	103297526	Missense_Mutation	SNP	A	TCGA-CJ-5678-01A-11D-1534-10	72645990	103297526	43066496	34	29242											
TRPM3	80036	hgsc.bcm.edu;ucsc.edu	37	9	73150983	73150984	+	Frame_Shift_Del	DEL	TC	TC	-	rs6560142	byFrequency	TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr9:73150983_73150984delTC	ENST00000377110.3	-	25	5252_5253	c.5009_5010delGA	c.(5008-5010)cgafs	p.R1670fs	TRPM3_ENST00000358082.3_Frame_Shift_Del_p.R1532fs|TRPM3_ENST00000396280.5_Frame_Shift_Del_p.R1519fs|TRPM3_ENST00000357533.2_Frame_Shift_Del_p.R1674fs|TRPM3_ENST00000396285.1_Frame_Shift_Del_p.R1529fs|TRPM3_ENST00000423814.3_Frame_Shift_Del_p.R1697fs|TRPM3_ENST00000360823.2_Frame_Shift_Del_p.R1532fs|TRPM3_ENST00000396292.4_Frame_Shift_Del_p.R1542fs|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Frame_Shift_Del_p.R1542fs|TRPM3_ENST00000377105.1_Frame_Shift_Del_p.R1529fs|TRPM3_ENST00000408909.2_Frame_Shift_Del_p.R1529fs			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1695					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGAAGGGATTTCGCAGGCTTGC	0.559																																																0																																										SO:0001589	frameshift_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.5009_5010delGA	9.37:g.73150983_73150984delTC	ENSP00000366314:p.Arg1670fs		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Frame_Shift_Del	DEL	ENST00000377110.3	37	CCDS43835.1																																																																																				0.559	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		-	73150984	TC	-	73150983	7	5	543	1	0	1	0	1	0	0	0	0	16592	1770	62	0	117	0	TRPM3	9	73150983	Frame_Shift_Del	DEL	TC	TCGA-CJ-5678-01A-11D-1534-10		73150983	68062448	35	29243											
ITIH5	80760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	7683956	7683956	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr10:7683956G>A	ENST00000256861.6	-	3	311	c.233C>T	c.(232-234)tCt>tTt	p.S78F	ITIH5_ENST00000397146.2_Missense_Mutation_p.S78F|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397145.2_Missense_Mutation_p.S78F|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	78	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S78F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGGTCTTCAGAAGCTCTGTT	0.453																																																2	Substitution - Missense(2)	kidney(2)											159	136	144					10																	7683956		2203	4300	6503	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.233C>T	10.37:g.7683956G>A	ENSP00000256861:p.Ser78Phe		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	15.47	2.841833	0.51057	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24350	1.86;1.86;1.86	5.71	5.71	0.89125	Vault protein inter-alpha-trypsin (2);	0.328417	0.37955	N	0.001873	T	0.55545	0.1927	.	.	.	0.48341	D	0.99963	D;D	0.89917	0.999;1.0	D;D	0.81914	0.946;0.995	T	0.57051	-0.7877	9	0.66056	D	0.02	-20.1524	19.8445	0.96703	0.0:0.0:1.0:0.0	.	78;78	G5E9D8;Q86UX2	.;ITIH5_HUMAN	F	78	ENSP00000256861:S78F;ENSP00000380333:S78F;ENSP00000380332:S78F	ENSP00000256861:S78F	S	-	2	0	ITIH5	7723962	1.000000	0.71417	0.980000	0.43619	0.017000	0.09413	5.277000	0.65586	2.695000	0.91970	0.462000	0.41574	TCT		0.453	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		A	7683956	G	A	7683956	3	1	543	1	0	0	0	0	1	0	0	0	7909	942	33	2	2780	2	ITIH5	10	7683956	Missense_Mutation	SNP	G	TCGA-CJ-5678-01A-11D-1534-10		7683956	127850791	36	29244											
PPP2R2D	55844	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	133748061	133748061	+	IGR	SNP	T	T	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr10:133748061T>G								AL450307.1 (125526 upstream) : PPP2R2D (5471 downstream)														p.?(1)									GAACAAGAGGTCAGTAATTTT	0.383																																																1	Unknown(1)	kidney(1)											169	167	167					10																	133748061		1915	4115	6030	SO:0001628	intergenic_variant	55844																															10.37:g.133748061T>G				Splice_Site	SNP		37		.	.	.	.	.	.	.	.	.	.	T	20.2	3.950590	0.73787	.	.	ENSG00000175470	ENST00000455566	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3797	0.66902	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R2D	133598051	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.992000	0.76238	1.799000	0.52666	0.528000	0.53228	.	0	0.383									G	133748061	T	G	133748061	1	3	543	0	1	0	0	0	0	0	0	0	12392	1681	58	5		5	PPP2R2D	10	133748061	IGR	SNP	T	TCGA-CJ-5678-01A-11D-1534-10	126064105	133748061	1786686	37	29245											
PDDC1	347862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	771046	771046	+	Silent	SNP	A	A	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr11:771046A>G	ENST00000319863.8	-	7	624	c.603T>C	c.(601-603)aaT>aaC	p.N201N	PDDC1_ENST00000442059.2_Silent_p.N151N|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000524550.1_Silent_p.N165N|PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000526325.1_Intron	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	201						extracellular vesicular exosome (GO:0070062)		p.N201N(1)		kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGCTGGCATTCTGGCCTG	0.652																																																1	Substitution - coding silent(1)	kidney(1)											54	53	53					11																	771046		2201	4300	6501	SO:0001819	synonymous_variant	347862			AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.603T>C	11.37:g.771046A>G			B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Silent	SNP	ENST00000319863.8	37	CCDS7713.1	.	.	.	.	.	.	.	.	.	.	A	7.344	0.621412	0.14193	.	.	ENSG00000177225	ENST00000465313	.	.	.	4.55	-2.46	0.06461	.	.	.	.	.	T	0.57272	0.2042	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55341	-0.8156	4	.	.	.	.	11.3867	0.49789	0.6674:0.0:0.3326:0.0	.	.	.	.	R	52	.	.	C	-	1	0	PDDC1	761046	0.261000	0.24063	0.899000	0.35326	0.590000	0.36582	-0.522000	0.06237	-0.424000	0.07382	-0.464000	0.05259	TGC		0.652	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		G	771046	A	G	771046	2	3	543	1	0	0	0	0	0	0	0	1	11631	214	8	3		3	PDDC1	11	771046	Silent	SNP	A	TCGA-CJ-5678-01A-11D-1534-10		771046	134235470	38	29246											
OR4C12	283093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	50003264	50003264	+	Silent	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr11:50003264G>T	ENST00000335238.4	-	1	807	c.774C>A	c.(772-774)cgC>cgA	p.R258R		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R258R(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TGGTCACTGAGCGCAGATACA	0.438																																																1	Substitution - coding silent(1)	kidney(1)											73	67	69					11																	50003264		2201	4296	6497	SO:0001819	synonymous_variant	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.774C>A	11.37:g.50003264G>T			B2RNF0|Q6IF49	Silent	SNP	ENST00000335238.4	37	CCDS31496.1																																																																																				0.438	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		T	50003264	G	T	50003264	2	4	543	1	0	0	0	0	0	0	0	1	11048	958	34	4		4	OR4C12	11	50003264	Silent	SNP	G	TCGA-CJ-5678-01A-11D-1534-10	49232218	50003264	85003252	39	29247											
GLB1L3	112937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	134188593	134188593	+	Silent	SNP	G	G	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr11:134188593G>A	ENST00000431683.2	+	19	1848	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	616					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.Q616Q(1)|p.Q277Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTGGGCCTCAGAAAACACTGT	0.413																																																2	Substitution - coding silent(2)	kidney(2)											137	126	129					11																	134188593		1918	4118	6036	SO:0001819	synonymous_variant	112937				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1848G>A	11.37:g.134188593G>A			A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	CCDS44780.1																																																																																				0.413	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		A	134188593	G	A	134188593	2	1	543	1	0	0	0	0	0	0	0	1	6432	933	33	2		2	GLB1L3	11	134188593	Silent	SNP	G	TCGA-CJ-5678-01A-11D-1534-10	84185329	134188593	817923	40	29248											
DNAJC14	85406	hgsc.bcm.edu;ucsc.edu	37	12	56221492	56221492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr12:56221492delT	ENST00000357606.3	-	3	1240	c.951delA	c.(949-951)gtafs	p.V317fs	TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Frame_Shift_Del_p.V317fs|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Frame_Shift_Del_p.V317fs			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	317					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TAAACAGTCCTACTCCACAGT	0.532																																																0													85	78	81					12																	56221492		2203	4300	6503	SO:0001589	frameshift_variant	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.951delA	12.37:g.56221492delT	ENSP00000350223:p.Val317fs		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Frame_Shift_Del	DEL	ENST00000357606.3	37	CCDS8894.1																																																																																				0.532	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		-	56221492	T	-	56221492	7	5	543	1	0	1	0	1	0	0	0	0	4635	1509	53	0	1181	0	DNAJC14	12	56221492	Frame_Shift_Del	DEL	T	TCGA-CJ-5678-01A-11D-1534-10		56221492	77630403	41	29249											
FMN1	342184	hgsc.bcm.edu;ucsc.edu	37	15	33261665	33261668	+	Frame_Shift_Del	DEL	AGTT	AGTT	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	AGTT	AGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr15:33261665_33261668delAGTT	ENST00000559047.1	-	5	2233_2236	c.2234_2237delAACT	c.(2233-2238)gaacttfs	p.EL745fs	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Frame_Shift_Del_p.EL647fs|FMN1_ENST00000334528.9_Frame_Shift_Del_p.EL522fs			Q68DA7	FMN1_HUMAN	formin 1	745	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAATGCCCGAAGTTCAAACTGTGC	0.397																																																0																																										SO:0001589	frameshift_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2234_2237delAACT	15.37:g.33261665_33261668delAGTT	ENSP00000454047:p.Glu745fs		Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Del	DEL	ENST00000559047.1	37																																																																																					0.397	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		-	33261668	AGTT	-	33261665	7	5	543	1	0	1	0	1	0	0	0	0	5951	72	3	0	2078	0	FMN1	15	33261665	Frame_Shift_Del	DEL	AGTT	TCGA-CJ-5678-01A-11D-1534-10		33261665	69269727	42	29250											
ZFP106	64397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42742412	42742412	+	Silent	SNP	G	G	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr15:42742412G>A	ENST00000263805.4	-	2	2315	c.1989C>T	c.(1987-1989)caC>caT	p.H663H	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	663					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.H663H(1)									ATAAGCCAGGGTGTGGACTGG	0.423																																																1	Substitution - coding silent(1)	kidney(1)											145	151	149					15																	42742412		2203	4299	6502	SO:0001819	synonymous_variant	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1989C>T	15.37:g.42742412G>A			B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.423	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		A	42742412	G	A	42742412	2	1	543	1	0	0	0	0	0	0	0	1	17642	1252	44	2		2	ZFP106	15	42742412	Silent	SNP	G	TCGA-CJ-5678-01A-11D-1534-10	9480747	42742412	59788980	43	29251											
UNKL	64718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1417749	1417749	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr16:1417749T>C	ENST00000389221.4	-	13	1686	c.1687A>G	c.(1687-1689)Aac>Gac	p.N563D	UNKL_ENST00000397464.1_Missense_Mutation_p.N65D|UNKL_ENST00000248104.7_Missense_Mutation_p.N62D|UNKL_ENST00000508903.2_Missense_Mutation_p.N566D|UNKL_ENST00000391893.2_Missense_Mutation_p.N62D|UNKL_ENST00000402641.2_Missense_Mutation_p.N65D|UNKL_ENST00000403703.1_Missense_Mutation_p.N65D	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	563					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.N65D(1)|p.N563D(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TCAGCTCCGTTTGGACTTGCA	0.652																																																2	Substitution - Missense(2)	kidney(2)											23	21	22					16																	1417749		2175	4283	6458	SO:0001583	missense	64718			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1687A>G	16.37:g.1417749T>C	ENSP00000373873:p.Asn563Asp		B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	t	4.796	0.147959	0.09134	.	.	ENSG00000059145	ENST00000248104;ENST00000389221;ENST00000403703;ENST00000391893;ENST00000397464;ENST00000402641;ENST00000508903;ENST00000513783	T;T	0.63417	-0.03;-0.04	4.67	-0.624	0.11552	.	.	.	.	.	T	0.44244	0.1284	L	0.36672	1.1	0.09310	N	0.999999	B;P;B	0.38195	0.001;0.622;0.189	B;B;B	0.36567	0.001;0.228;0.039	T	0.25882	-1.0119	9	0.23891	T	0.37	.	5.0438	0.14473	0.0:0.1897:0.3189:0.4914	.	563;62;566	Q9H9P5;Q9H9P5-3;E9PDK2	UNKL_HUMAN;.;.	D	62;563;65;62;65;65;566;65	ENSP00000373873:N563D;ENSP00000380606:N65D	ENSP00000248104:N62D	N	-	1	0	UNKL	1357750	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.349000	0.20055	0.185000	0.20105	0.445000	0.29226	AAC		0.652	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		C	1417749	T	C	1417749	3	2	543	1	0	0	0	0	1	0	0	0	17006	1841	64	3	517	3	UNKL	16	1417749	Missense_Mutation	SNP	T	TCGA-CJ-5678-01A-11D-1534-10		1417749	88937004	44	29252											
C16orf93	90835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30768957	30768957	+	Missense_Mutation	SNP	C	C	T	rs201418865	byFrequency	TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr16:30768957C>T	ENST00000543610.1	-	9	1797	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000541260.1_Missense_Mutation_p.R344Q|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	279								p.R242Q(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GATGTAGGCTCGGAGGACGTG	0.607													C|||	16	0.00319489	0.0	0.0	5008	,	,		20303	0.0		0.0	False		,,,				2504	0.0164															1	Substitution - Missense(1)	kidney(1)						C	,,GLN/ARG	0,4394		0,0,2197	53	52	53		,,836	-0.3	0.9	16		53	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,intron,missense	PHKG2,C16orf93	NM_000294.2,NM_001172432.1,NM_001014979.2	,,43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,,benign	,,279/332	30768957	1,12993	2197	4300	6497	SO:0001583	missense	90835			BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.836G>A	16.37:g.30768957C>T	ENSP00000437532:p.Arg279Gln		A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	CCDS32434.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.640|7.640	0.680706|0.680706	0.14907|0.14907	0.0|0.0	1.16E-4|1.16E-4	ENSG00000196118|ENSG00000196118	ENST00000535476|ENST00000354963;ENST00000543610	.|.	.|.	.|.	5.97|5.97	-0.265|-0.265	0.12946|0.12946	.|.	.|0.655189	.|0.13828	.|N	.|0.359952	T|T	0.26304|0.26304	0.0642|0.0642	N|N	0.11756|0.11756	0.17|0.17	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.28636	.|0.014;0.218;0.006	.|B;B;B	.|0.17433	.|0.012;0.018;0.008	T|T	0.09037|0.09037	-1.0693|-1.0693	5|9	.|0.13108	.|T	.|0.6	-1.7863|-1.7863	8.76|8.76	0.34669|0.34669	0.0:0.5098:0.0:0.4902|0.0:0.5098:0.0:0.4902	.|.	.|242;51;279	.|A1A4V9-2;A1A4V9-3;A1A4V9	.|.;.;CP093_HUMAN	K|Q	146|242;279	.|.	.|ENSP00000347050:R242Q	E|R	-|-	1|2	0|0	C16orf93|C16orf93	30676458|30676458	0.651000|0.651000	0.27340|0.27340	0.925000|0.925000	0.36789|0.36789	0.062000|0.062000	0.15995|0.15995	0.062000|0.062000	0.14389|0.14389	-0.256000|-0.256000	0.09473|0.09473	-0.982000|-0.982000	0.02568|0.02568	GAG|CGA		0.607	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		T	30768957	C	T	30768957	3	4	543	1	0	0	0	0	1	0	0	0	1848	884	31	1	163	1	C16orf93	16	30768957	Missense_Mutation	SNP	C	TCGA-CJ-5678-01A-11D-1534-10	29351208	30768957	59585796	45	29253											
CDRT1	374286	broad.mit.edu	37	17	15498178	15498178	+	Silent	SNP	C	C	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr17:15498178C>T	ENST00000395906.3	-	10	1730	c.1731G>A	c.(1729-1731)gtG>gtA	p.V577V	RP11-385D13.1_ENST00000455584.2_Silent_p.V887V|CDRT1_ENST00000354433.3_Silent_p.V77V|CDRT1_ENST00000583965.1_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	577								p.V577V(2)|p.V77V(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ACAGGCATTTCACAGCTCCCT	0.537																																																4	Substitution - coding silent(4)	kidney(4)											92	107	102					17																	15498178		2203	4300	6503	SO:0001819	synonymous_variant	10626			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1731G>A	17.37:g.15498178C>T			O43848|O95611	Silent	SNP	ENST00000395906.3	37	CCDS45619.1																																																																																				0.537	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		T	15498178	C	T	15498178	2	4	543	1	0	0	0	0	0	0	0	1	3176	813	29	2		2	CDRT1	17	15498178	Silent	SNP	C	TCGA-CJ-5678-01A-11D-1534-10		15498178	65697032	46	29254											
MED1	5469	hgsc.bcm.edu;ucsc.edu	37	17	37580984	37580984	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr17:37580984delT	ENST00000394287.3	-	11	952	c.747delA	c.(745-747)cgafs	p.R249fs	MED1_ENST00000300651.6_Frame_Shift_Del_p.R249fs			O95243	MBD4_HUMAN	mediator complex subunit 1	406					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGCCCAAAGATCGAGAAACTG	0.368										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)											0													127	119	122					17																	37580984		2203	4300	6503	SO:0001589	frameshift_variant	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.747delA	17.37:g.37580984delT	ENSP00000377828:p.Arg249fs		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Del	DEL	ENST00000394287.3	37																																																																																					0.368	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		-	37580984	T	-	37580984	7	5	543	1	0	1	0	1	0	0	0	0	9427	1422	50	0	4026	0	MED1	17	37580984	Frame_Shift_Del	DEL	T	TCGA-CJ-5678-01A-11D-1534-10	22082806	37580984	43614226	47	29255											
SPPL2B	0	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2353056	2353056	+	RNA	SNP	C	C	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr19:2353056C>G	ENST00000609490.1	-	0	450				SPPL2B_ENST00000452401.2_RNA																							CCAGCCACATCCCCCTGGCCT	0.697																																																0													24	34	31					19																	2353056		2003	4168	6171			56928																															19.37:g.2353056C>G				Missense_Mutation	SNP	ENST00000609490.1	37																																																																																					0.697	LLfos-48D6.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000473157.1			G	2353056	C	G	2353056	1	3	543	0	1	0	0	0	0	0	0	0	15094	855	30	4		4	SPPL2B	19	2353056	RNA	SNP	C	TCGA-CJ-5678-01A-11D-1534-10		2353056	56775927	48	29256											
CD209	30835	broad.mit.edu;hgsc.bcm.edu	37	19	7809904	7809904	+	Silent	SNP	G	G	T	rs562144201	byFrequency	TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr19:7809904G>T	ENST00000315599.7	-	5	845	c.823C>A	c.(823-825)Cgg>Agg	p.R275R	CD209_ENST00000315591.8_Silent_p.R251R|CD209_ENST00000301357.8_Silent_p.R139R|CD209_ENST00000394173.4_Silent_p.R114R|CD209_ENST00000601256.1_Silent_p.R251R|CD209_ENST00000602261.1_Silent_p.R183R|CD209_ENST00000593660.1_Silent_p.R205R|CD209_ENST00000394161.5_Intron|CD209_ENST00000601951.1_Silent_p.R251R|CD209_ENST00000204801.8_Silent_p.R231R|CD209_ENST00000354397.6_Silent_p.R275R|CD209_ENST00000593821.1_Silent_p.R139R	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	275	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R275R(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCCAGTTCCGCTGGGAGTTA	0.587																																																2	Substitution - coding silent(2)	kidney(2)											97	91	93					19																	7809904		2203	4300	6503	SO:0001819	synonymous_variant	30835			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.823C>A	19.37:g.7809904G>T			A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	CCDS12186.1																																																																																				0.587	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		T	7809904	G	T	7809904	2	4	543	1	0	0	0	0	0	0	0	1	2986	1086	38	4		4	CD209	19	7809904	Silent	SNP	G	TCGA-CJ-5678-01A-11D-1534-10	5456848	7809904	51319079	49	29257											
ZNF83	55769	broad.mit.edu;hgsc.bcm.edu	37	19	53117760	53117760	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr19:53117760T>A	ENST00000597597.1	-	2	2311	c.58A>T	c.(58-60)Aac>Tac	p.N20Y	ZNF83_ENST00000544146.1_Missense_Mutation_p.N20Y|ZNF83_ENST00000391789.4_Missense_Mutation_p.N20Y|ZNF83_ENST00000541777.2_Missense_Mutation_p.N20Y|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.N20Y|ZNF83_ENST00000301096.3_Missense_Mutation_p.N20Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.N20Y|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N20Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GACTGCGGGTTTAATCCAAGC	0.398																																																1	Substitution - Missense(1)	kidney(1)											57	62	60					19																	53117760		2203	4300	6503	SO:0001583	missense	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.58A>T	19.37:g.53117760T>A	ENSP00000472619:p.Asn20Tyr		A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	t	16.20	3.057220	0.55325	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.09073	3.05;3.05;3.05;3.05;3.05;3.02	2.08	2.08	0.27032	.	.	.	.	.	T	0.14227	0.0344	L	0.53671	1.685	0.20821	N	0.999844	D;D	0.60160	0.987;0.976	P;P	0.52217	0.693;0.549	T	0.10019	-1.0648	9	0.49607	T	0.09	.	8.8819	0.35380	0.0:0.0:0.0:1.0	.	20;20	P51522-2;P51522	.;ZNF83_HUMAN	Y	20	ENSP00000445993:N20Y;ENSP00000301096:N20Y;ENSP00000445470:N20Y;ENSP00000440713:N20Y;ENSP00000439681:N20Y;ENSP00000375666:N20Y	ENSP00000301096:N20Y	N	-	1	0	ZNF83	57809572	0.001000	0.12720	0.039000	0.18376	0.109000	0.19521	0.676000	0.25247	0.946000	0.37632	0.377000	0.23210	AAC		0.398	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		A	53117760	T	A	53117760	3	1	543	1	0	0	0	0	1	0	0	0	18188	1841	64	5	1496	5	ZNF83	19	53117760	Missense_Mutation	SNP	T	TCGA-CJ-5678-01A-11D-1534-10	45307856	53117760	6011223	50	29258											
NLRP2	55655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55489152	55489152	+	Missense_Mutation	SNP	G	G	A	rs368936931		TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr19:55489152G>A	ENST00000543010.1	+	4	501	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	NLRP2_ENST00000537859.1_Missense_Mutation_p.V120M|NLRP2_ENST00000339757.7_Missense_Mutation_p.V120M|NLRP2_ENST00000263437.6_Missense_Mutation_p.V120M|NLRP2_ENST00000427260.2_Missense_Mutation_p.V97M|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000448584.2_Missense_Mutation_p.V120M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	120					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.V120M(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCTCTAGACGTGGACGAAAT	0.542																																																1	Substitution - Missense(1)	kidney(1)						G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	130	106	115		358,358,289,358	-2.7	0	19		115	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	21,21,21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	120/1063,120/1041,97/1040,120/1063	55489152	2,13004	2203	4300	6503	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.358G>A	19.37:g.55489152G>A	ENSP00000445135:p.Val120Met		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	0.496	-0.873145	0.02570	0.0	2.33E-4	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000263437;ENST00000397169	T;T;T;T;T;T;T;T	0.76448	-0.26;-0.84;-0.77;-0.84;-0.77;-1.02;-0.8;-0.45	1.32	-2.65	0.06095	.	.	.	.	.	T	0.48095	0.1481	N	0.14661	0.345	0.09310	N	1	B;P;P;B	0.39717	0.023;0.648;0.684;0.04	B;B;B;B	0.26969	0.003;0.075;0.008;0.003	T	0.37407	-0.9707	9	0.40728	T	0.16	.	1.4978	0.02470	0.1655:0.3792:0.2852:0.1702	.	97;120;120;120	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02	.;.;.;NALP2_HUMAN	M	120;120;120;120;120;97;120;52	ENSP00000443519:V120M;ENSP00000445135:V120M;ENSP00000344074:V120M;ENSP00000409370:V120M;ENSP00000440601:V120M;ENSP00000402474:V97M;ENSP00000263437:V120M;ENSP00000441363:V52M	ENSP00000263437:V120M	V	+	1	0	NLRP2	60180964	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.559000	0.02162	-1.913000	0.01079	-0.467000	0.05162	GTG		0.542	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		A	55489152	G	A	55489152	3	1	543	1	0	0	0	0	1	0	0	0	10479	1145	40	1	368	1	NLRP2	19	55489152	Missense_Mutation	SNP	G	TCGA-CJ-5678-01A-11D-1534-10	2371392	55489152	3639831	51	29259											
ZHX3	23051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	20	39831542	39831543	+	Missense_Mutation	DNP	GT	GT	CC			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr20:39831542_39831543GT>CC	ENST00000309060.3	-	4	2429_2430	c.2014_2015AC>GG	c.(2014-2016)ACc>GGc	p.T672G	ZHX3_ENST00000540170.1_Missense_Mutation_p.T672G|ZHX3_ENST00000432768.2_Missense_Mutation_p.T672G|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672G|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672G|ZHX3_ENST00000559234.1_Missense_Mutation_p.T672G|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	672					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T672S(1)|p.T672A(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGCCTTCTTGGTCTCCTCAGCA	0.505																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2014_2015delinsCC	20.37:g.39831542_39831543delinsCC	ENSP00000312222:p.Thr672Gly		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1																																																																																				0.505	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		CC	39831543	GT	CC	39831542	3	2	543	1	0	0	0	0	1	0	0	0	17682	1261	44	4	863	4	ZHX3	20	39831542	Missense_Mutation	DNP	GT	TCGA-CJ-5678-01A-11D-1534-10		39831542	23193978	52	29260											
TP53TG5	27296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44004124	44004124	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr20:44004124T>C	ENST00000372726.3	-	4	479	c.323A>G	c.(322-324)aAg>aGg	p.K108R	SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.K92R|TP53TG5_ENST00000494455.1_5'UTR|SYS1_ENST00000426004.1_3'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	108					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K108R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CTTGAGTTCCTTCTCGGAGCA	0.488																																																1	Substitution - Missense(1)	kidney(1)											135	147	143					20																	44004124		2203	4300	6503	SO:0001583	missense	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.323A>G	20.37:g.44004124T>C	ENSP00000361811:p.Lys108Arg			Missense_Mutation	SNP	ENST00000372726.3	37	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236115	0.22626	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.16073	2.37;2.37	5.01	2.68	0.31781	.	1.370420	0.04261	N	0.340400	T	0.17280	0.0415	L	0.34521	1.04	0.09310	N	1	P	0.42518	0.782	B	0.43508	0.422	T	0.19192	-1.0313	10	0.39692	T	0.17	-0.7488	5.7921	0.18367	0.1601:0.0:0.1922:0.6477	.	108	Q9Y2B4	T53G5_HUMAN	R	108;92	ENSP00000361811:K108R;ENSP00000438374:K92R	ENSP00000361811:K108R	K	-	2	0	TP53TG5	43437538	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.713000	0.25794	0.435000	0.26365	-0.331000	0.08364	AAG		0.488	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		C	44004124	T	C	44004124	3	2	543	1	0	0	0	0	1	0	0	0	16396	1609	56	3	557	3	TP53TG5	20	44004124	Missense_Mutation	SNP	T	TCGA-CJ-5678-01A-11D-1534-10	4172582	44004124	19021396	53	29261											
DDX3Y	8653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	Y	15024911	15024911	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chrY:15024911T>A	ENST00000336079.3	+	6	580	c.474T>A	c.(472-474)ttT>ttA	p.F158L	DDX3Y_ENST00000360160.4_Missense_Mutation_p.F158L	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	158						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.F158L(1)		kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						GGATTAACTTTGAGAAATATG	0.313																																																1	Substitution - Missense(1)	kidney(1)											68	76	74					Y																	15024911		590	1929	2519	SO:0001583	missense	8653			AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"DEAD-boxes"	2699	protein-coding gene	gene with protein product		400010	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.474T>A	Y.37:g.15024911T>A	ENSP00000336725:p.Phe158Leu		B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	CCDS14782.1																																																																																				0.313	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		A	15024911	T	A	15024911	3	1	543	1	0	0	0	0	1	0	0	0	4361	1809	63	5	496	5	DDX3Y	24	15024911	Missense_Mutation	SNP	T	TCGA-CJ-5678-01A-11D-1534-10		15024911	44348655	54	29262											
KCNAB2	8514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	6157369	6157369	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr1:6157369delG	ENST00000164247.1	+	15	1530	c.966delG	c.(964-966)ctgfs	p.L322fs	KCNAB2_ENST00000352527.1_Frame_Shift_Del_p.L308fs|KCNAB2_ENST00000378092.1_Frame_Shift_Del_p.L308fs|KCNAB2_ENST00000341524.1_Frame_Shift_Del_p.L322fs|KCNAB2_ENST00000378097.1_Frame_Shift_Del_p.L322fs|KCNAB2_ENST00000378083.3_Frame_Shift_Del_p.L370fs|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Frame_Shift_Del_p.L322fs|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000458166.2_Frame_Shift_Del_p.L255fs	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	322					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTGCTCCTGGGGGCCTCCA	0.652																																																0													57	47	51					1																	6157369		2120	4164	6284	SO:0001589	frameshift_variant	8514			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"Potassium channels", "Aldo-keto reductases"	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.966delG	1.37:g.6157369delG	ENSP00000164247:p.Leu322fs		A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Frame_Shift_Del	DEL	ENST00000164247.1	37	CCDS55.1																																																																																				0.652	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		-	6157369	G	-	6157369	7	5	544	1	0	1	0	1	0	0	0	0	8012	1335	47	0	1020	0	KCNAB2	1	6157369	Frame_Shift_Del	DEL	G	TCGA-CJ-5679-01A-11D-1534-10		6157369	243093252	1	29263											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11184573	11184573	+	Missense_Mutation	SNP	G	G	T	rs587777894		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr1:11184573G>T	ENST00000361445.4	-	47	6720	c.6644C>A	c.(6643-6645)tCt>tAt	p.S2215Y	MTOR_ENST00000376838.1_Missense_Mutation_p.S420Y	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2215	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		S -> Y (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.S2215Y(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTTCCGAAGAGATGTTGGGTC	0.438																																																4	Substitution - Missense(4)	large_intestine(2)|kidney(1)|endometrium(1)											101	98	99					1																	11184573		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6644C>A	1.37:g.11184573G>T	ENSP00000354558:p.Ser2215Tyr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903707	0.92035	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.78364	-1.17;-1.17	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	M	0.86651	2.83	0.80722	D	1	D	0.58970	0.984	P	0.60541	0.876	D	0.90182	0.4243	10	0.87932	D	0	-14.2436	18.2956	0.90145	0.0:0.0:1.0:0.0	.	2215	P42345	MTOR_HUMAN	Y	2215;420	ENSP00000354558:S2215Y;ENSP00000366034:S420Y	ENSP00000354558:S2215Y	S	-	2	0	MTOR	11107160	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.362000	0.97126	2.761000	0.94854	0.650000	0.86243	TCT		0.438	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11184573	G	T	11184573	3	4	544	1	0	0	0	0	1	0	0	0	9956	942	33	4	1053	4	MTOR	1	11184573	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	5027204	11184573	238066048	2	29264											
KAZ	23254	broad.mit.edu;hgsc.bcm.edu	37	1	15428039	15428039	+	Splice_Site	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr1:15428039C>T	ENST00000376030.2	+	11	1842	c.1548C>T	c.(1546-1548)agC>agT	p.S516S		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	516					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.S516S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TCCTCCCCAGCCTGTCCAAAG	0.587																																																1	Substitution - coding silent(1)	kidney(1)											19	19	19					1																	15428039		2138	4108	6246	SO:0001630	splice_region_variant	0			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1548-1C>T	1.37:g.15428039C>T			B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	CCDS152.2																																																																																				0.587	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	Silent	T	15428039	C	T	15428039	5	4	544	1	0	0	0	0	0	0	1	0	7990	753	26	2	1846	2	KAZ	1	15428039	Splice_Site	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	4243466	15428039	233822582	3	29265											
TCEA3	6920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	23743879	23743879	+	Silent	SNP	G	G	A	rs377440841		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr1:23743879G>A	ENST00000450454.2	-	4	349	c.243C>T	c.(241-243)tcC>tcT	p.S81S	TCEA3_ENST00000374601.3_Silent_p.S81S|TCEA3_ENST00000461794.1_Silent_p.S44S	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	81	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S81S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GGGGTCCAGGGGAGTCTGAAA	0.512																																																1	Substitution - coding silent(1)	kidney(1)											68	68	68					1																	23743879		1923	4146	6069	SO:0001819	synonymous_variant	6920			AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.243C>T	1.37:g.23743879G>A			A8K2K7|Q5DR83	Silent	SNP	ENST00000450454.2	37	CCDS44086.1																																																																																				0.512	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		A	23743879	G	A	23743879	2	1	544	1	0	0	0	0	0	0	0	1	15674	1219	43	2		2	TCEA3	1	23743879	Silent	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	8315840	23743879	225506742	4	29266											
NASP	4678	hgsc.bcm.edu	37	1	46073373	46073373	+	Missense_Mutation	SNP	G	G	A	rs199792714	byFrequency	TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr1:46073373G>A	ENST00000350030.3	+	6	877	c.790G>A	c.(790-792)Gga>Aga	p.G264R	NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.G200R|NASP_ENST00000402363.3_Missense_Mutation_p.G266R	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	264	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGAGAAGCAGGGAGAGGTAAT	0.478																																																0													44	47	46					1																	46073373		2203	4300	6503	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.790G>A	1.37:g.46073373G>A	ENSP00000255120:p.Gly264Arg		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306595	0.81247	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.37	5.37	0.77165	.	0.623202	0.16964	N	0.192395	D	0.93615	0.7961	L	0.32530	0.975	0.43412	D	0.995555	P;P;D;P;P	0.53619	0.928;0.933;0.961;0.883;0.919	P;P;P;B;B	0.50405	0.565;0.542;0.64;0.231;0.408	D	0.92054	0.5651	9	.	.	.	-3.2525	20.0097	0.97446	0.0:0.0:1.0:0.0	.	200;264;164;264;266	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	R	200;266;164;264;227	ENSP00000438871:G200R;ENSP00000384529:G266R;ENSP00000255120:G264R;ENSP00000436924:G227R	.	G	+	1	0	NASP	45845960	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.877000	0.39598	2.902000	0.99343	0.650000	0.86243	GGA		0.478	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		A	46073373	G	A	46073373	3	1	544	1	0	0	0	0	1	0	0	0	10174	1233	43	2	889	2	NASP	1	46073373	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	22329494	46073373	203177248	5	29267											
WDR78	79819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	67301400	67301400	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr1:67301400C>T	ENST00000371026.3	-	11	1697	c.1642G>A	c.(1642-1644)Gca>Aca	p.A548T	WDR78_ENST00000431318.1_Missense_Mutation_p.A294T	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	548					hematopoietic progenitor cell differentiation (GO:0002244)			p.A548T(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGTTAGGTGCTCCAATTGAA	0.358																																																1	Substitution - Missense(1)	kidney(1)											101	102	102					1																	67301400		2203	4300	6503	SO:0001583	missense	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1642G>A	1.37:g.67301400C>T	ENSP00000360065:p.Ala548Thr		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	1.132	-0.652169	0.03480	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.64991	1.64;-0.13;-0.13	5.47	-10.9	0.00192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.296490	0.04974	N	0.464493	T	0.07548	0.0190	N	0.01505	-0.83	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08659	-1.0711	10	0.17832	T	0.49	-0.1882	6.891	0.24230	0.5644:0.0664:0.0621:0.3072	.	294;548	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	T	548;294;314	ENSP00000360065:A548T;ENSP00000393182:A294T;ENSP00000433682:A314T	ENSP00000360065:A548T	A	-	1	0	WDR78	67073988	0.000000	0.05858	0.000000	0.03702	0.956000	0.61745	-0.879000	0.04188	-3.772000	0.00109	-1.301000	0.01330	GCA		0.358	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		T	67301400	C	T	67301400	3	4	544	1	0	0	0	0	1	0	0	0	17333	797	28	2	932	2	WDR78	1	67301400	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	21228027	67301400	181949221	6	29268											
TNNI3K	51086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	75009648	75009648	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr1:75009648C>A	ENST00000326637.3	+	25	2541	c.2490C>A	c.(2488-2490)agC>agA	p.S830R	TNNI3K_ENST00000465473.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.S944R|TNNI3K_ENST00000370891.2_Missense_Mutation_p.S931R	NM_015978.2	NP_057062.1			TNNI3 interacting kinase									p.S830R(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						ATAGTAGCAGCTTTGAGGACA	0.458																																																1	Substitution - Missense(1)	kidney(1)											123	105	111					1																	75009648		2203	4300	6503	SO:0001583	missense	100526835			AF116826	CCDS664.1, CCDS44161.1	1p31.1	2014-09-17				ENSG00000116783			19661	protein-coding gene	gene with protein product		613932				12721663	Standard	NM_015978		Approved	CARK		Q59H18	OTTHUMG00000171318	ENST00000326637.3:c.2490C>A	1.37:g.75009648C>A	ENSP00000322251:p.Ser830Arg			Missense_Mutation	SNP	ENST00000326637.3	37	CCDS664.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360959	0.41801	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.75821	-0.97;-0.97;-0.94	5.32	4.26	0.50523	.	0.160659	0.53938	D	0.000057	T	0.46112	0.1376	L	0.29908	0.895	0.42164	D	0.991614	B;B	0.23058	0.079;0.0	B;B	0.15870	0.014;0.001	T	0.52381	-0.8583	10	0.54805	T	0.06	.	10.0367	0.42133	0.0:0.8888:0.0:0.1112	.	830;931	Q59H18;Q59H18-1	TNI3K_HUMAN;.	R	931;931;830	ENSP00000450895:S931R;ENSP00000359928:S931R;ENSP00000322251:S830R	ENSP00000322251:S830R	S	+	3	2	RP11-653A5.2;AC093158.1	74782236	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	1.771000	0.38542	1.286000	0.44565	0.561000	0.74099	AGC		0.458	TNNI3K-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026432.1	NM_015978		A	75009648	C	A	75009648	3	1	544	1	0	0	0	0	1	0	0	0	16334	796	28	4	2943	4	TNNI3K	1	75009648	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	7708248	75009648	174240973	7	29269											
LPHN2	23266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	82456186	82456186	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr1:82456186A>C	ENST00000370728.1	+	25	4382	c.3737A>C	c.(3736-3738)cAa>cCa	p.Q1246P	LPHN2_ENST00000370727.1_Missense_Mutation_p.Q1218P|LPHN2_ENST00000370730.1_Missense_Mutation_p.Q1203P|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.Q1248P|LPHN2_ENST00000370723.1_Missense_Mutation_p.Q1248P|LPHN2_ENST00000271029.4_Missense_Mutation_p.Q1218P|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370721.1_Missense_Mutation_p.Q1171P|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.Q1190P|LPHN2_ENST00000370725.1_Missense_Mutation_p.Q1261P|LPHN2_ENST00000335786.5_Missense_Mutation_p.Q1203P|LPHN2_ENST00000319517.6_Missense_Mutation_p.Q1190P|LPHN2_ENST00000370717.2_Missense_Mutation_p.Q1261P			O95490	LPHN2_HUMAN	latrophilin 2	1246					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.Q1190P(1)|p.Q1261P(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACAGCGTGCAAGTTGTGGAC	0.433																																																2	Substitution - Missense(2)	kidney(2)											128	119	122					1																	82456186		2203	4300	6503	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3737A>C	1.37:g.82456186A>C	ENSP00000359763:p.Gln1246Pro		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.601|3.601	-0.081525|-0.081525	0.07141|0.07141	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.71222	.|-0.51;-0.54;-0.55;-0.49;-0.48;-0.43;-0.51;-0.51;-0.48;-0.43;-0.49;-0.55	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.133666	.|0.50627	.|D	.|0.000113	T|T	0.58061|0.58061	0.2096|0.2096	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B;B	.|0.30104	.|0.002;0.268	.|B;B	.|0.38378	.|0.007;0.272	T|T	0.60042|0.60042	-0.7340|-0.7340	5|10	.|0.32370	.|T	.|0.25	.|.	15.669|15.669	0.77258|0.77258	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1190;170	.|O95490-2;B3KVU1	.|.;.	Q|P	1138|1171;1246;1203;1218;1261;1248;1190;1190;1261;1248;1218;1203	.|ENSP00000359756:Q1171P;ENSP00000359763:Q1246P;ENSP00000359765:Q1203P;ENSP00000359762:Q1218P;ENSP00000359760:Q1261P;ENSP00000359758:Q1248P;ENSP00000353006:Q1190P;ENSP00000322270:Q1190P;ENSP00000359752:Q1261P;ENSP00000378344:Q1248P;ENSP00000271029:Q1218P;ENSP00000337306:Q1203P	.|ENSP00000271029:Q1218P	K|Q	+|+	1|2	0|0	LPHN2|LPHN2	82228774|82228774	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.159000|0.159000	0.22180|0.22180	7.175000|7.175000	0.77632|0.77632	2.092000|2.092000	0.63282|0.63282	0.460000|0.460000	0.39030|0.39030	AAG|CAA		0.433	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		C	82456186	A	C	82456186	3	2	544	1	0	0	0	0	1	0	0	0	8918	130	5	5	3643	5	LPHN2	1	82456186	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	7446538	82456186	166794435	8	29270											
FMO5	2330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	146672930	146672930	+	Silent	SNP	G	G	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr1:146672930G>A	ENST00000254090.4	-	7	1375	c.987C>T	c.(985-987)gcC>gcT	p.A329A	FMO5_ENST00000441068.2_Silent_p.A329A|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	329						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.A329A(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TATAGCCTGTGGCAAAGATAA	0.438																																																2	Substitution - coding silent(2)	kidney(2)											100	94	96					1																	146672930		2203	4300	6503	SO:0001819	synonymous_variant	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.987C>T	1.37:g.146672930G>A			B2RBG1|C9JJD1|Q8IV22	Silent	SNP	ENST00000254090.4	37	CCDS926.1																																																																																				0.438	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		A	146672930	G	A	146672930	2	1	544	1	0	0	0	0	0	0	0	1	5960	1335	47	2		2	FMO5	1	146672930	Silent	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	64216744	146672930	102577691	9	29271											
TPR	7175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186303510	186303510	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr1:186303510G>C	ENST00000367478.4	-	36	5425	c.5129C>G	c.(5128-5130)aCt>aGt	p.T1710S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1710					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.T1710S(1)|p.T1711S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGGGGTAGTAGTGGGATTTGT	0.433			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - Missense(2)	kidney(2)											147	145	146					1																	186303510		1906	4116	6022	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5129C>G	1.37:g.186303510G>C	ENSP00000356448:p.Thr1710Ser		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835466	0.71373	.	.	ENSG00000047410	ENST00000367478	T	0.25250	1.81	5.27	5.27	0.74061	.	0.108369	0.64402	D	0.000007	T	0.48978	0.1530	M	0.64997	1.995	0.49687	D	0.999813	D	0.63880	0.993	D	0.66196	0.942	T	0.38845	-0.9642	10	0.46703	T	0.11	.	19.2495	0.93917	0.0:0.0:1.0:0.0	.	1710	P12270	TPR_HUMAN	S	1710	ENSP00000356448:T1710S	ENSP00000356448:T1710S	T	-	2	0	TPR	184570133	1.000000	0.71417	0.643000	0.29450	0.985000	0.73830	6.310000	0.72830	2.609000	0.88269	0.563000	0.77884	ACT		0.433	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		C	186303510	G	C	186303510	3	2	544	1	0	0	0	0	1	0	0	0	16421	1029	36	4	2026	4	TPR	1	186303510	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	39630580	186303510	62947111	10	29272											
FMN2	56776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	240492737	240492737	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr1:240492737G>A	ENST00000319653.9	+	10	4636	c.4406G>A	c.(4405-4407)cGc>cAc	p.R1469H	FMN2_ENST00000545751.1_Missense_Mutation_p.R65H	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1469	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.R1612H(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAATTCGTCGCAAACTGGAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											137	130	133					1																	240492737		2203	4300	6503	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4406G>A	1.37:g.240492737G>A	ENSP00000318884:p.Arg1469His		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453475	0.84209	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355	T;T	0.19394	2.15;2.15	5.65	5.65	0.86999	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000011	T	0.49081	0.1536	M	0.72624	2.21	0.80722	D	1	P;D;D;D	0.89917	0.95;0.999;1.0;0.995	P;D;D;P	0.77004	0.595;0.924;0.989;0.883	T	0.46693	-0.9173	10	0.72032	D	0.01	.	19.7243	0.96157	0.0:0.0:1.0:0.0	.	65;115;98;1469	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	H	1469;65;96	ENSP00000318884:R1469H;ENSP00000437918:R65H	ENSP00000318884:R1469H	R	+	2	0	FMN2	238559360	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.658000	0.68003	2.647000	0.89833	0.655000	0.94253	CGC		0.408	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		A	240492737	G	A	240492737	3	1	544	1	0	0	0	0	1	0	0	0	5952	1087	38	1	4444	1	FMN2	1	240492737	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	54189227	240492737	8757884	11	29273											
TSSC1	7260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	3217939	3217940	+	Nonsense_Mutation	DNP	TC	TC	CA			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr2:3217939_3217940TC>CA	ENST00000382125.4	-	5	688_689	c.496_497GA>TG	c.(496-498)GAa>TGa	p.E166*	TSSC1_ENST00000443925.2_Nonsense_Mutation_p.E166*|TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000398659.4_Nonsense_Mutation_p.E193*	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	166								p.E166G(1)|p.E166*(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GCTCGAGCTTTCCTGTAAATCC	0.446																																					Colon(140;1261 1762 4183 34270 49743)											2	Substitution - Missense(1)|Substitution - Nonsense(1)	kidney(2)																																								SO:0001587	stop_gained	7260			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.496_497delinsCA	2.37:g.3217939_3217940delinsCA	ENSP00000371559:p.Glu166*		D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000382125.4	37	CCDS1651.1																																																																																				0.446	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		CA	3217940	TC	CA	3217939	4	2	544	1	0	0	0	0	0	1	0	0	16671	1783	62	3	686	3	TSSC1	2	3217939	Nonsense_Mutation	DNP	TC	TCGA-CJ-5679-01A-11D-1534-10		3217939	239981434	12	29274											
DNAH6	1768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	84880607	84880607	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr2:84880607G>A	ENST00000237449.6	+	33	5251	c.5243G>A	c.(5242-5244)gGt>gAt	p.G1748D	DNAH6_ENST00000398278.2_Missense_Mutation_p.G1748D|DNAH6_ENST00000389394.3_Missense_Mutation_p.G1748D			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1748	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G1748D(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTAAGGCATGGTGTTATGTTA	0.393																																																1	Substitution - Missense(1)	kidney(1)											73	66	68					2																	84880607		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.5243G>A	2.37:g.84880607G>A	ENSP00000237449:p.Gly1748Asp		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930547	0.73327	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.43294	0.95;0.95;0.95	5.14	5.14	0.70334	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	.	.	.	.	T	0.78323	0.4265	H	0.98133	4.155	0.44539	D	0.997494	D	0.89917	1.0	D	0.97110	1.0	D	0.87073	0.2161	9	0.87932	D	0	.	17.3824	0.87408	0.0:0.0:1.0:0.0	.	1748	Q9C0G6	DYH6_HUMAN	D	1748	ENSP00000374045:G1748D;ENSP00000381326:G1748D;ENSP00000237449:G1748D	ENSP00000237449:G1748D	G	+	2	0	DNAH6	84734118	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.541000	0.67212	2.404000	0.81709	0.544000	0.68410	GGT		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		A	84880607	G	A	84880607	3	1	544	1	0	0	0	0	1	0	0	0	4607	1261	44	2	5373	2	DNAH6	2	84880607	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	81662668	84880607	158318766	13	29275											
DPP10	57628	broad.mit.edu;hgsc.bcm.edu	37	2	116510751	116510751	+	Splice_Site	SNP	G	G	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr2:116510751G>T	ENST00000410059.1	+	11	1432	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	DPP10_ENST00000310323.8_Splice_Site_p.E311*|DPP10_ENST00000393147.2_Splice_Site_p.E322*|DPP10_ENST00000409163.1_Splice_Site_p.E268*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	318						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.E311*(1)|p.E318*(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCAAACTAGAGAATACTATAT	0.343																																																2	Substitution - Nonsense(2)	kidney(2)											78	71	73					2																	116510751		2203	4300	6503	SO:0001630	splice_region_variant	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.951-1G>T	2.37:g.116510751G>T			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	40	8.112810	0.98659	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	.	.	.	5.1	5.1	0.69264	.	0.055007	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.4537	17.6852	0.88255	0.0:0.0:1.0:0.0	.	.	.	.	X	318;268;322;311;268	.	ENSP00000309066:E311X	E	+	1	0	DPP10	116227221	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.236000	0.95360	2.660000	0.90430	0.650000	0.86243	GAA		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	Nonsense_Mutation	T	116510751	G	T	116510751	5	4	544	1	0	0	0	0	0	0	1	0	4729	956	33	4	1165	4	DPP10	2	116510751	Splice_Site	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	31630144	116510751	126688622	14	29276											
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	168103812	168103812	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr2:168103812G>C	ENST00000409195.1	+	9	5999	c.5910G>C	c.(5908-5910)caG>caC	p.Q1970H	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1970H|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1748H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1795					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Q1970H(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGCTGTCCAGAGGAACAAAA	0.453																																																1	Substitution - Missense(1)	kidney(1)											42	41	41					2																	168103812		1911	4123	6034	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5910G>C	2.37:g.168103812G>C	ENSP00000386840:p.Gln1970His		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	0.963	-0.702711	0.03255	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03212	4.01;4.01;4.01	5.73	0.307	0.15811	.	0.340768	0.30771	N	0.008920	T	0.05044	0.0135	M	0.67953	2.075	0.19300	N	0.99997	B;B;B	0.20671	0.013;0.023;0.047	B;B;B	0.18561	0.003;0.007;0.022	T	0.27905	-1.0060	10	0.56958	D	0.05	-2.0748	8.3951	0.32553	0.2355:0.1955:0.569:0.0	.	1795;1795;1748	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	1970;1970;1748	ENSP00000386840:Q1970H;ENSP00000295237:Q1970H;ENSP00000387255:Q1748H	ENSP00000295237:Q1970H	Q	+	3	2	XIRP2	167812058	0.981000	0.34729	0.036000	0.18154	0.037000	0.13140	0.147000	0.16202	0.340000	0.23745	0.650000	0.86243	CAG		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		C	168103812	G	C	168103812	3	2	544	1	0	0	0	0	1	0	0	0	17435	933	33	4	5940	4	XIRP2	2	168103812	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	51593061	168103812	75095561	15	29277											
ALS2CR12	130540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	202172343	202172343	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr2:202172343T>C	ENST00000286190.5	-	10	824	c.778A>G	c.(778-780)Aaa>Gaa	p.K260E	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.K260E|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.K260E|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.K260E|ALS2CR12_ENST00000448967.1_5'Flank			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	260					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.K260E(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GTCATCTTTTTTTCTGTGGAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											120	124	123					2																	202172343		2203	4298	6501	SO:0001583	missense	130540			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.778A>G	2.37:g.202172343T>C	ENSP00000286190:p.Lys260Glu		G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467978	0.26335	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.53	-2.71	0.05986	.	1.048030	0.07475	N	0.902821	T	0.25121	0.0610	N	0.22421	0.69	0.09310	N	1	B;B	0.19200	0.034;0.034	B;B	0.18871	0.023;0.023	T	0.24297	-1.0164	10	0.36615	T	0.2	0.3994	5.7161	0.17960	0.2732:0.0:0.2548:0.472	.	260;260	Q96Q35;G5E9S3	AL2SB_HUMAN;.	E	260	ENSP00000286190:K260E;ENSP00000385098:K260E;ENSP00000376086:K260E;ENSP00000412073:K260E	ENSP00000286190:K260E	K	-	1	0	ALS2CR12	201880588	0.001000	0.12720	0.020000	0.16555	0.140000	0.21249	-0.809000	0.04510	-0.456000	0.07043	0.528000	0.53228	AAA		0.363	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		C	202172343	T	C	202172343	3	2	544	1	0	0	0	0	1	0	0	0	553	1850	64	3	579	3	ALS2CR12	2	202172343	Missense_Mutation	SNP	T	TCGA-CJ-5679-01A-11D-1534-10	34068531	202172343	41027030	16	29278											
ERBB4	2066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	212426720	212426721	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr2:212426720_212426721TA>AT	ENST00000342788.4	-	20	2704_2705	c.2394_2395TA>AT	c.(2392-2397)ctTAtg>ctATtg	p.M799L	ERBB4_ENST00000436443.1_Missense_Mutation_p.M799L|ERBB4_ENST00000402597.1_Missense_Mutation_p.M789L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	799	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L798L(1)|p.M799L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCATGGGGCATAAGTTGAGTAA	0.5										TSP Lung(8;0.080)																																						2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2394_2395delinsAT	2.37:g.212426720_212426721delinsAT	ENSP00000342235:p.Met799Leu		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation|Silent	SNP	ENST00000342788.4	37	CCDS2394.1																																																																																				0.5	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		AT	212426721	TA	AT	212426720	3	1	544	1	0	0	0	0	1	0	0	0	5211	1406	49	5	1567	5	ERBB4	2	212426720	Missense_Mutation	DNP	TA	TCGA-CJ-5679-01A-11D-1534-10	10254377	212426720	30772653	17	29279											
WDR69	164781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228754578	228754578	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr2:228754578T>A	ENST00000309931.2	+	3	203	c.120T>A	c.(118-120)gaT>gaA	p.D40E	DAW1_ENST00000373666.2_Missense_Mutation_p.D40E|DAW1_ENST00000545118.1_Missense_Mutation_p.D25E|SNORA25_ENST00000607153.1_RNA|DAW1_ENST00000472604.1_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	40						cilium (GO:0005929)		p.D40E(1)									TCAGCACTGATGTCAGTGCGT	0.358																																																1	Substitution - Missense(1)	kidney(1)											72	70	71					2																	228754578		2203	4300	6503	SO:0001583	missense	164781				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.120T>A	2.37:g.228754578T>A	ENSP00000311899:p.Asp40Glu		Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.773009	0.49680	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000440997;ENST00000545118	T;T;T;T	0.56444	0.66;0.64;0.46;0.63	5.45	-1.18	0.09617	.	0.684911	0.14135	N	0.339127	T	0.50000	0.1590	M	0.85630	2.765	0.44508	D	0.997459	B	0.15473	0.013	B	0.18561	0.022	T	0.36578	-0.9742	10	0.40728	T	0.16	.	5.1271	0.14890	0.1226:0.2834:0.0:0.5941	.	40	Q8N136	WDR69_HUMAN	E	40;40;25;25	ENSP00000362770:D40E;ENSP00000311899:D40E;ENSP00000394853:D25E;ENSP00000437887:D25E	ENSP00000311899:D40E	D	+	3	2	WDR69	228462822	1.000000	0.71417	0.526000	0.27913	0.760000	0.43138	0.863000	0.27913	-0.356000	0.08187	0.528000	0.53228	GAT		0.358	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		A	228754578	T	A	228754578	3	1	544	1	0	0	0	0	1	0	0	0	17324	1461	51	5	130	5	WDR69	2	228754578	Missense_Mutation	SNP	T	TCGA-CJ-5679-01A-11D-1534-10	16327858	228754578	14444795	18	29280											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52584643	52584643	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr3:52584643delA	ENST00000296302.7	-	29	4692	c.4691delT	c.(4690-4692)ttgfs	p.L1564fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.L1472fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.L1484fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.L1457fs|RNU6-856P_ENST00000516959.1_RNA|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.L1477fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.L1457fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.L1527fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.L1509fs			Q86U86	PB1_HUMAN	polybromo 1	1564	Pro-rich.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGGAGGCCCCAAAACTCCCAC	0.537			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													67	69	68					3																	52584643		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4691delT	3.37:g.52584643delA	ENSP00000296302:p.Leu1564fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.537	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52584643	A	-	52584643	7	5	544	1	0	1	0	1	0	0	0	0	11493	131	5	0	386	0	PBRM1	3	52584643	Frame_Shift_Del	DEL	A	TCGA-CJ-5679-01A-11D-1534-10		52584643	145437787	19	29281											
ATXN7	6314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	63981575	63981575	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr3:63981575C>A	ENST00000295900.6	+	12	2627	c.2077C>A	c.(2077-2079)Caa>Aaa	p.Q693K	ATXN7_ENST00000484332.1_Missense_Mutation_p.Q548K|ATXN7_ENST00000487717.1_Missense_Mutation_p.Q693K|ATXN7_ENST00000538065.1_Missense_Mutation_p.Q693K|ATXN7_ENST00000398590.3_Missense_Mutation_p.Q693K	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	693	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.Q693K(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CACTAACTGTCAAAATGCCAG	0.502																																																2	Substitution - Missense(2)	kidney(2)											68	79	75					3																	63981575		2130	4259	6389	SO:0001583	missense	6314			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2077C>A	3.37:g.63981575C>A	ENSP00000295900:p.Gln693Lys		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274140	0.23221	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.12984	2.63;2.64;2.64;2.63;2.64	4.98	2.8	0.32819	.	0.534882	0.20625	N	0.088692	T	0.04952	0.0133	N	0.08118	0	0.21355	N	0.999716	B;B;B	0.11235	0.0;0.004;0.001	B;B;B	0.11329	0.0;0.006;0.002	T	0.44498	-0.9324	10	0.02654	T	1	-4.4552	7.2027	0.25889	0.4479:0.4279:0.1242:0.0	.	548;693;693	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	K	693;693;693;693;548	ENSP00000381590:Q693K;ENSP00000295900:Q693K;ENSP00000420234:Q693K;ENSP00000439585:Q693K;ENSP00000428277:Q548K	ENSP00000295900:Q693K	Q	+	1	0	ATXN7	63956615	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.616000	0.46376	2.325000	0.78763	0.650000	0.86243	CAA		0.502	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		A	63981575	C	A	63981575	3	1	544	1	0	0	0	0	1	0	0	0	1215	827	29	4	2183	4	ATXN7	3	63981575	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	11396932	63981575	134040855	20	29282											
RAB43	339122	broad.mit.edu;hgsc.bcm.edu	37	3	128813995	128813995	+	Silent	SNP	C	C	A	rs369991706		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr3:128813995C>A	ENST00000315150.5	-	2	522	c.222G>T	c.(220-222)acG>acT	p.T74T	RAB43_ENST00000393305.1_Silent_p.T74T|RAB43_ENST00000393307.1_Silent_p.T74T|RAB43_ENST00000393308.1_Silent_p.T74T|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.R290L|RAB43_ENST00000476465.1_Silent_p.T74T|RAB43_ENST00000393304.1_Silent_p.T74T	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	74					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T74T(1)		kidney(2)|liver(1)|lung(2)|skin(1)	6						CCTGGCCGGCCGTGTCCCAGA	0.592																																																1	Substitution - coding silent(1)	kidney(1)						C	,,,,,CYS/GLY,LEU/ARG,	0,4406		0,0,2203	55	55	55		222,222,222,222,222,208,869,222	-9.1	0.7	3		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,missense,missense,coding-synonymous	RAB43,ISY1-RAB43	NM_001204883.1,NM_001204884.1,NM_001204885.1,NM_001204886.1,NM_001204887.1,NM_001204888.1,NM_001204890.1,NM_198490.2	,,,,,159,102,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,,,,,,,	74/213,74/213,74/213,74/213,74/156,70/109,290/332,74/213	128813995	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	339122			AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"RAB, member RAS oncogene"	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.222G>T	3.37:g.128813995C>A			A8K4P9|E9PBQ0	Silent	SNP	ENST00000315150.5	37	CCDS33850.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968953	0.34754	0.0	1.16E-4	ENSG00000240682	ENST00000418265	.	.	.	4.55	-9.1	0.00714	.	1.514590	0.04868	N	0.445488	T	0.20007	0.0481	.	.	.	0.26820	N	0.968812	B	0.02656	0.0	B	0.04013	0.001	T	0.14392	-1.0474	8	0.35671	T	0.21	.	3.078	0.06253	0.1796:0.4263:0.1033:0.2908	.	290	Q9ULR0-1	.	L	290	.	ENSP00000411822:R290L	R	-	2	0	ISY1	130296685	0.000000	0.05858	0.746000	0.31095	0.828000	0.46876	-3.083000	0.00612	-0.871000	0.04042	-0.670000	0.03821	CGG		0.592	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1	XM_290714		A	128813995	C	A	128813995	2	1	544	1	0	0	0	0	0	0	0	1	12951	639	23	4		4	RAB43	3	128813995	Silent	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	64832420	128813995	69208435	21	29283											
GPR160	26996	broad.mit.edu;hgsc.bcm.edu	37	3	169802072	169802072	+	Silent	SNP	T	T	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr3:169802072T>C	ENST00000355897.5	+	4	920	c.312T>C	c.(310-312)acT>acC	p.T104T		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.T104T(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTCCTTTACTTATGGCTTTT	0.294																																																1	Substitution - coding silent(1)	kidney(1)											58	61	60					3																	169802072		2203	4296	6499	SO:0001819	synonymous_variant	26996			AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"GPCR / Class A : Orphans"	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.312T>C	3.37:g.169802072T>C			D3DNQ2	Silent	SNP	ENST00000355897.5	37	CCDS3211.1																																																																																				0.294	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		C	169802072	T	C	169802072	2	2	544	1	0	0	0	0	0	0	0	1	6666	1596	56	3		3	GPR160	3	169802072	Silent	SNP	T	TCGA-CJ-5679-01A-11D-1534-10	40988077	169802072	28220358	22	29284											
DCUN1D1	54165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	182683307	182683336	+	Splice_Site	DEL	TCACAAGCAAGCACTCACCTTTGTATCTAT	TCACAAGCAAGCACTCACCTTTGTATCTAT	-	rs371845694		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	TCACAAGCAAGCACTCACCTTTGTATCTAT	TCACAAGCAAGCACTCACCTTTGTATCTAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr3:182683307_182683336delTCACAAGCAAGCACTCACCTTTGTATCTAT	ENST00000292782.4	-	2	362_374	c.209_221delATAGATACAAAGGTGAGTGCTTGCTTGTGA	c.(208-222)aatagatacaaaggt>at	p.NRYKG70del	DCUN1D1_ENST00000469954.1_Splice_Site_p.NRYKG55del	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	70	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTACTTAAAGTCACAAGCAAGCACTCACCTTTGTATCTATTGTACAGCTG	0.343																																																0																																										SO:0001630	splice_region_variant	54165			AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"squamous cell carcinoma related oncogene"	605905	"DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.220+1ATAGATACAAAGGTGAGTGCTTGCTTGTGA>-	3.37:g.182683307_182683336delTCACAAGCAAGCACTCACCTTTGTATCTAT			B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Frame_Shift_Del	DEL	ENST00000292782.4	37	CCDS3240.1																																																																																				0.343	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640	In_Frame_Del	-	182683336	TCACAAGCAAGCACTCACCTTTGTATCTAT	-	182683307	8	5	544	1	0	1	0	1	0	0	1	0	4315	1682	58	0		0	DCUN1D1	3	182683307	Splice_Site	DEL	TCACAAGCAAGCACTCACCTTTGTATCTAT	TCGA-CJ-5679-01A-11D-1534-10	12881235	182683307	15339123	23	29285											
SENP5	205564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196650309	196650309	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr3:196650309C>G	ENST00000323460.5	+	7	2158	c.1909C>G	c.(1909-1911)Ctg>Gtg	p.L637V	SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Missense_Mutation_p.L127V	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	637	Protease.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.L637V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAAGAGTCTTCTGTTGATTCC	0.383																																					Ovarian(47;891 1095 11174 13858 51271)											1	Substitution - Missense(1)	kidney(1)											148	141	143					3																	196650309		2203	4300	6503	SO:0001583	missense	205564			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1909C>G	3.37:g.196650309C>G	ENSP00000327197:p.Leu637Val		B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	CCDS3322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.93|15.93	2.979125|2.979125	0.53827|0.53827	.|.	.|.	ENSG00000119231|ENSG00000119231	ENST00000448068|ENST00000323460;ENST00000419026	.|T;T	.|0.30448	.|1.53;1.53	4.66|4.66	3.76|3.76	0.43208|0.43208	.|.	.|0.081294	.|0.50627	.|D	.|0.000120	T|T	0.40196|0.40196	0.1107|0.1107	L|L	0.37466|0.37466	1.105|1.105	0.51767|0.51767	D|D	0.999934|0.999934	.|D	.|0.76494	.|0.999	.|D	.|0.71656	.|0.974	T|T	0.08086|0.08086	-1.0739|-1.0739	5|10	.|0.39692	.|T	.|0.17	-4.2808|-4.2808	10.1294|10.1294	0.42669|0.42669	0.0:0.9008:0.0:0.0992|0.0:0.9008:0.0:0.0992	.|.	.|637	.|Q96HI0	.|SENP5_HUMAN	L|V	7|637;127	.|ENSP00000327197:L637V;ENSP00000396927:L127V	.|ENSP00000327197:L637V	F|L	+|+	3|1	2|2	SENP5|SENP5	198134706|198134706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.840000|0.840000	0.27600|0.27600	2.305000|2.305000	0.77605|0.77605	0.555000|0.555000	0.69702|0.69702	TTC|CTG		0.383	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		G	196650309	C	G	196650309	3	3	544	1	0	0	0	0	1	0	0	0	14055	912	32	4	1931	4	SENP5	3	196650309	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	13967002	196650309	1372121	24	29286											
EGF	1950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	110862256	110862256	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr4:110862256A>T	ENST00000265171.5	+	2	727	c.282A>T	c.(280-282)gaA>gaT	p.E94D	EGF_ENST00000503392.1_Missense_Mutation_p.E94D|EGF_ENST00000509793.1_Missense_Mutation_p.E94D|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	94					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.E94D(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGGATTTAGAAAGACAACTTT	0.378																																																1	Substitution - Missense(1)	kidney(1)											67	70	69					4																	110862256		2203	4300	6503	SO:0001583	missense	1950			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.282A>T	4.37:g.110862256A>T	ENSP00000265171:p.Glu94Asp		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362168	0.61403	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.35605	1.3;1.3;1.3	5.37	2.89	0.33648	Six-bladed beta-propeller, TolB-like (1);	0.325783	0.37304	N	0.002158	T	0.42787	0.1218	M	0.75447	2.3	0.29785	N	0.833662	P;P;P	0.52061	0.917;0.95;0.917	B;P;B	0.49999	0.424;0.628;0.424	T	0.41179	-0.9523	10	0.34782	T	0.22	.	7.1196	0.25437	0.6487:0.2797:0.0717:0.0	.	94;94;94	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	D	94	ENSP00000424316:E94D;ENSP00000265171:E94D;ENSP00000421384:E94D	ENSP00000265171:E94D	E	+	3	2	EGF	111081705	1.000000	0.71417	0.987000	0.45799	0.977000	0.68977	1.282000	0.33226	0.337000	0.23665	-0.256000	0.11100	GAA		0.378	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			T	110862256	A	T	110862256	3	4	544	1	0	0	0	0	1	0	0	0	4964	11	1	5	288	5	EGF	4	110862256	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10		110862256	80292020	25	29287											
MAB21L2	10586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	151504561	151504561	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr4:151504561A>T	ENST00000317605.4	+	1	1485	c.380A>T	c.(379-381)aAg>aTg	p.K127M	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000503716.1_5'Flank|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	127					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.K127M(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCAGCGCGTAAGATCCGCTCG	0.617																																																1	Substitution - Missense(1)	kidney(1)											103	100	101					4																	151504561		2203	4300	6503	SO:0001583	missense	10586			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.380A>T	4.37:g.151504561A>T	ENSP00000324701:p.Lys127Met		B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027913	0.75390	.	.	ENSG00000181541	ENST00000317605	T	0.11712	2.75	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43718	-0.9374	10	0.87932	D	0	-19.6246	16.0916	0.81094	1.0:0.0:0.0:0.0	.	127	Q9Y586	MB212_HUMAN	M	127	ENSP00000324701:K127M	ENSP00000324701:K127M	K	+	2	0	MAB21L2	151724011	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.186000	0.69663	0.533000	0.62120	AAG		0.617	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		T	151504561	A	T	151504561	3	4	544	1	0	0	0	0	1	0	0	0	9144	72	3	5	382	5	MAB21L2	4	151504561	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	40642305	151504561	39649715	26	29288											
FBXO4	26272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	41927219	41927219	+	Silent	SNP	G	G	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr5:41927219G>A	ENST00000281623.3	+	2	350	c.294G>A	c.(292-294)ctG>ctA	p.L98L	FBXO4_ENST00000296812.2_Silent_p.L98L|FBXO4_ENST00000509134.1_Silent_p.L98L	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	98	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.L98L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ATCCAATTCTGTGGAGATACT	0.368																																																1	Substitution - coding silent(1)	kidney(1)											182	180	181					5																	41927219		2203	4300	6503	SO:0001819	synonymous_variant	26272			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"F-boxes /  "other""	13583	protein-coding gene	gene with protein product		609090	"F-box only protein 4"			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.294G>A	5.37:g.41927219G>A			Q68CU8|Q86VT8|Q9UK98	Silent	SNP	ENST00000281623.3	37	CCDS3938.1																																																																																				0.368	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			A	41927219	G	A	41927219	2	1	544	1	0	0	0	0	0	0	0	1	5750	1364	48	2		2	FBXO4	5	41927219	Silent	SNP	G	TCGA-CJ-5679-01A-11D-1534-10		41927219	138988041	27	29289											
SEPP1	6414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	42807034	42807035	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr5:42807034_42807035delAA	ENST00000514985.1	-	3	635_636	c.379_380delTT	c.(379-381)ttafs	p.L127fs	SEPP1_ENST00000509276.1_Intron|SEPP1_ENST00000511224.1_Frame_Shift_Del_p.L127fs|SEPP1_ENST00000507920.1_Intron|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000506577.1_Frame_Shift_Del_p.L127fs	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	127					brain development (GO:0007420)|growth (GO:0040007)|locomotory behavior (GO:0007626)|post-embryonic development (GO:0009791)|response to oxidative stress (GO:0006979)|selenium compound metabolic process (GO:0001887)|sexual reproduction (GO:0019953)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)			kidney(10)|large_intestine(1)|lung(4)	15						GCTTCCATTTAAAAGAGTCCAG	0.307																																																0																																										SO:0001589	frameshift_variant	6414			BC040075	CCDS43311.1	5q31	2012-03-01				ENSG00000250722			10751	protein-coding gene	gene with protein product		601484				8421687	Standard	NM_001085486		Approved	SeP	uc011cpu.2	P49908		ENST00000514985.1:c.379_380delTT	5.37:g.42807036_42807037delAA	ENSP00000420939:p.Leu127fs		Q6PD59|Q6PI43|Q6PI87|Q6PJF9	Frame_Shift_Del	DEL	ENST00000514985.1	37	CCDS43311.1																																																																																				0.307	SEPP1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000367483.1	NM_005410		-	42807035	AA	-	42807034	7	5	544	1	0	1	0	1	0	0	0	0	14063	372	13	0	777	0	SEPP1	5	42807034	Frame_Shift_Del	DEL	AA	TCGA-CJ-5679-01A-11D-1534-10	879815	42807034	138108226	28	29290											
MAST4	375449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66459741	66459741	+	Silent	SNP	G	G	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr5:66459741G>A	ENST00000403625.2	+	29	5029	c.4734G>A	c.(4732-4734)ccG>ccA	p.P1578P	MAST4_ENST00000404260.3_Silent_p.P1581P|MAST4_ENST00000261569.7_Silent_p.P1384P|MAST4_ENST00000403666.1_Silent_p.P1389P|MAST4_ENST00000405643.1_Silent_p.P1399P	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1581						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.P1581P(2)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAGTCTATCCGAAGGCTGTGG	0.502																																																2	Substitution - coding silent(2)	kidney(1)|central_nervous_system(1)											34	37	36					5																	66459741		1940	4138	6078	SO:0001819	synonymous_variant	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4734G>A	5.37:g.66459741G>A			A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	5.529	0.282491	0.10458	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.23	-8.45	0.00946	.	.	.	.	.	T	0.28764	0.0713	.	.	.	0.22511	N	0.999032	.	.	.	.	.	.	T	0.35051	-0.9804	4	.	.	.	-6.8335	10.969	0.47428	0.2857:0.2548:0.4595:0.0	.	.	.	.	K	635	.	.	E	+	1	0	MAST4	66495497	0.000000	0.05858	0.002000	0.10522	0.081000	0.17604	-1.355000	0.02612	-1.668000	0.01471	-0.137000	0.14449	GAA		0.502	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			A	66459741	G	A	66459741	2	1	544	1	0	0	0	0	0	0	0	1	9329	1045	37	1		1	MAST4	5	66459741	Silent	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	23652707	66459741	114455519	29	29291											
SLC30A5	64924	broad.mit.edu	37	5	68414420	68414420	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr5:68414420A>G	ENST00000396591.3	+	12	2144	c.1534A>G	c.(1534-1536)Att>Gtt	p.I512V	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	512					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.I512V(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GGCTAGATTGATTGATCCTCC	0.318																																																1	Substitution - Missense(1)	kidney(1)											140	146	144					5																	68414420		2203	4298	6501	SO:0001583	missense	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1534A>G	5.37:g.68414420A>G	ENSP00000379836:p.Ile512Val		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.552828	0.27739	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.64438	-0.1	6.06	4.89	0.63831	.	0.257624	0.42964	D	0.000636	T	0.42177	0.1191	N	0.17872	0.535	0.80722	D	1	B;B;B	0.14438	0.001;0.01;0.009	B;B;B	0.18263	0.01;0.021;0.021	T	0.25676	-1.0125	10	0.30854	T	0.27	.	5.0565	0.14535	0.6411:0.0:0.0745:0.2844	.	341;341;512	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	V	512;125	ENSP00000379836:I512V	ENSP00000379836:I512V	I	+	1	0	SLC30A5	68450176	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.528000	0.35985	1.091000	0.41335	0.528000	0.53228	ATT		0.318	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			G	68414420	A	G	68414420	3	3	544	1	0	0	0	0	1	0	0	0	14564	333	12	3	1668	3	SLC30A5	5	68414420	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	1954679	68414420	112500840	30	29292											
HSPA9	3313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137895767	137895767	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr5:137895767A>G	ENST00000297185.3	-	11	1321	c.1196T>C	c.(1195-1197)gTa>gCa	p.V399A	HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000384262.1_RNA|SNORD63_ENST00000411005.1_RNA	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	399					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.V399A(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGATCCTGTACAGTCTGCTG	0.537																																																1	Substitution - Missense(1)	kidney(1)											34	33	33					5																	137895767		2203	4300	6503	SO:0001583	missense	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1196T>C	5.37:g.137895767A>G	ENSP00000297185:p.Val399Ala		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173044	0.57584	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.01446	4.88	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.16938	0.0407	H	0.95151	3.63	0.80722	D	1	P;P	0.49358	0.785;0.923	D;D	0.68039	0.913;0.955	T	0.01643	-1.1305	10	0.87932	D	0	-13.7568	15.5293	0.75942	1.0:0.0:0.0:0.0	.	330;399	B7Z1V7;P38646	.;GRP75_HUMAN	A	399;352;385	ENSP00000297185:V399A	ENSP00000297185:V399A	V	-	2	0	HSPA9	137923666	1.000000	0.71417	0.979000	0.43373	0.002000	0.02628	9.221000	0.95188	2.220000	0.72140	0.533000	0.62120	GTA		0.537	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		G	137895767	A	G	137895767	3	3	544	1	0	0	0	0	1	0	0	0	7419	391	14	3	871	3	HSPA9	5	137895767	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	69481347	137895767	43019493	31	29293											
KCTD20	222658	broad.mit.edu;ucsc.edu	37	6	36442785	36442785	+	Missense_Mutation	SNP	G	G	A	rs576744140		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr6:36442785G>A	ENST00000373731.2	+	3	771	c.380G>A	c.(379-381)cGt>cAt	p.R127H	KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000536244.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	127	BTB.				protein homooligomerization (GO:0051260)			p.R127H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GATGGCACACGTTTTGTTGTG	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18145	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											129	124	126					6																	36442785		2203	4300	6503	SO:0001583	missense	222658			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.380G>A	6.37:g.36442785G>A	ENSP00000362836:p.Arg127His		B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161161	0.78226	.	.	ENSG00000112078	ENST00000373731	D	0.82619	-1.63	5.26	5.26	0.73747	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.076450	0.53938	D	0.000049	T	0.80649	0.4663	M	0.71871	2.18	0.80722	D	1	P	0.50819	0.939	B	0.42555	0.391	D	0.84453	0.0589	10	0.72032	D	0.01	-17.2199	19.0748	0.93156	0.0:0.0:1.0:0.0	.	127	Q7Z5Y7	KCD20_HUMAN	H	127	ENSP00000362836:R127H	ENSP00000362836:R127H	R	+	2	0	KCTD20	36550763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.781000	0.85668	2.733000	0.93635	0.655000	0.94253	CGT		0.408	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		A	36442785	G	A	36442785	3	1	544	1	0	0	0	0	1	0	0	0	8110	1145	40	1	386	1	KCTD20	6	36442785	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10		36442785	134672282	32	29294											
FAM83B	222584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	54806759	54806759	+	Missense_Mutation	SNP	G	G	A	rs146473058		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr6:54806759G>A	ENST00000306858.7	+	5	3106	c.2990G>A	c.(2989-2991)cGa>cAa	p.R997Q	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	997								p.R997Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACAAGTTTCGAGGATTTATG	0.338																																																1	Substitution - Missense(1)	kidney(1)						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	48	47	48		2990	5.8	1	6	dbSNP_134	48	0,8600		0,0,4300	no	missense	FAM83B	NM_001010872.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	997/1012	54806759	1,13005	2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2990G>A	6.37:g.54806759G>A	ENSP00000304078:p.Arg997Gln		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.032739	0.93575	2.27E-4	0.0	ENSG00000168143	ENST00000306858	T	0.47177	0.85	5.76	5.76	0.90799	.	0.099520	0.44483	D	0.000459	T	0.57169	0.2035	M	0.67953	2.075	0.43287	D	0.995267	D	0.76494	0.999	P	0.56751	0.805	T	0.56189	-0.8020	10	0.49607	T	0.09	-17.359	19.9813	0.97326	0.0:0.0:1.0:0.0	.	997	Q5T0W9	FA83B_HUMAN	Q	997	ENSP00000304078:R997Q	ENSP00000304078:R997Q	R	+	2	0	FAM83B	54914718	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.516000	0.73755	2.726000	0.93360	0.655000	0.94253	CGA		0.338	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		A	54806759	G	A	54806759	3	1	544	1	0	0	0	0	1	0	0	0	5636	1058	37	1	3004	1	FAM83B	6	54806759	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	18363974	54806759	116308308	33	29295											
FRK	2444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	116288847	116288847	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr6:116288847T>A	ENST00000606080.1	-	4	1112	c.666A>T	c.(664-666)aaA>aaT	p.K222N	FRK_ENST00000538210.1_Missense_Mutation_p.K80N	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	222					cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.K222N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GGTCCACGGTTTTATACGACA	0.383																																																1	Substitution - Missense(1)	kidney(1)											96	88	91					6																	116288847		2203	4300	6503	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.666A>T	6.37:g.116288847T>A	ENSP00000476145:p.Lys222Asn		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	T	9.284	1.048838	0.19827	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.34472	1.36;1.36	5.37	-0.286	0.12862	Protein kinase-like domain (1);	0.339890	0.28241	N	0.016065	T	0.04815	0.0130	N	0.12471	0.22	0.42244	D	0.991947	B	0.10296	0.003	B	0.06405	0.002	T	0.23368	-1.0190	10	0.16420	T	0.52	.	1.7662	0.03002	0.1317:0.317:0.1354:0.4158	.	222	P42685	FRK_HUMAN	N	222;80	ENSP00000357615:K222N;ENSP00000443075:K80N	ENSP00000357615:K222N	K	-	3	2	FRK	116395540	1.000000	0.71417	0.931000	0.37212	0.331000	0.28603	0.828000	0.27435	0.083000	0.17047	0.477000	0.44152	AAA		0.383	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		A	116288847	T	A	116288847	3	1	544	1	0	0	0	0	1	0	0	0	6050	1838	64	5	871	5	FRK	6	116288847	Missense_Mutation	SNP	T	TCGA-CJ-5679-01A-11D-1534-10	61482088	116288847	54826220	34	29296											
C7orf50	84310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	1037413	1037413	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr7:1037413G>T	ENST00000397098.3	-	5	1359	c.433C>A	c.(433-435)Ctg>Atg	p.L145M	C7orf50_ENST00000357429.6_Missense_Mutation_p.L145M|C7orf50_ENST00000397100.2_Missense_Mutation_p.L145M|C7orf50_ENST00000488073.1_5'UTR			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	145							poly(A) RNA binding (GO:0044822)	p.L145M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		AGGTAGGCCAGCAGGGTGGAG	0.672																																																1	Substitution - Missense(1)	kidney(1)											43	53	50					7																	1037413		2202	4299	6501	SO:0001583	missense	84310			BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.433C>A	7.37:g.1037413G>T	ENSP00000380286:p.Leu145Met			Missense_Mutation	SNP	ENST00000397098.3	37	CCDS5320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.59|19.59	3.855342|3.855342	0.71719|0.71719	.|.	.|.	ENSG00000146540|ENSG00000146540	ENST00000412051|ENST00000397100;ENST00000397098;ENST00000357429;ENST00000444428;ENST00000491163	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.79221|0.79221	0.4409|0.4409	M|M	0.82132|0.82132	2.575|2.575	0.47698|0.47698	D|D	0.999498|0.999498	.|D	.|0.71674	.|0.998	.|D	.|0.69307	.|0.963	T|T	0.81351|0.81351	-0.0972|-0.0972	5|9	.|0.66056	.|D	.|0.02	-23.1162|-23.1162	15.1362|15.1362	0.72569|0.72569	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|145	.|Q9BRJ6	.|CG050_HUMAN	D|M	129|145;145;145;113;145	.|.	.|ENSP00000350011:L145M	A|L	-|-	2|1	0|2	C7orf50|C7orf50	1003939|1003939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	3.267000|3.267000	0.51577|0.51577	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.672	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		T	1037413	G	T	1037413	3	4	544	1	0	0	0	0	1	0	0	0	2401	962	34	4	155	4	C7orf50	7	1037413	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10		1037413	158101250	35	29297											
IQCE	23288	broad.mit.edu;hgsc.bcm.edu	37	7	2629606	2629606	+	Silent	SNP	C	C	G	rs200293391	byFrequency	TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr7:2629606C>G	ENST00000402050.2	+	14	1294	c.1110C>G	c.(1108-1110)gcC>gcG	p.A370A	IQCE_ENST00000438376.2_Silent_p.A354A|IQCE_ENST00000404984.1_Silent_p.A319A|IQCE_ENST00000325979.7_Silent_p.A305A	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	370						mitochondrion (GO:0005739)		p.A370A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ACCCGCCAGCCTGCCTTGCAT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											50	60	57					7																	2629606		2098	4231	6329	SO:0001819	synonymous_variant	23288			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1110C>G	7.37:g.2629606C>G			Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	CCDS43542.1																																																																																				0.567	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		G	2629606	C	G	2629606	2	3	544	1	0	0	0	0	0	0	0	1	7808	668	24	4		4	IQCE	7	2629606	Silent	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	1592193	2629606	156509057	36	29298											
ISPD	729920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	16445697	16445697	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr7:16445697T>C	ENST00000407010.2	-	2	522	c.523A>G	c.(523-525)Aag>Gag	p.K175E	ISPD_ENST00000399310.3_Missense_Mutation_p.K175E	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	175					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)	p.K175E(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCGTGTTCCTTAGCAGCTGTG	0.393										Multiple Myeloma(15;0.18)																																						2	Substitution - Missense(2)	kidney(2)											73	67	69					7																	16445697		1892	4115	6007	SO:0001583	missense	729920			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.523A>G	7.37:g.16445697T>C	ENSP00000385478:p.Lys175Glu		A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37		.	.	.	.	.	.	.	.	.	.	T	14.37	2.514626	0.44763	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.84516	-1.86;-1.86	5.88	3.44	0.39384	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.131090	0.49305	U	0.000157	T	0.73265	0.3565	N	0.17800	0.525	0.49051	D	0.999745	B	0.17852	0.024	B	0.22152	0.038	T	0.62324	-0.6878	10	0.32370	T	0.25	-11.5792	9.008	0.36124	0.0:0.0654:0.1263:0.8083	.	175	A4D126	ISPD_HUMAN	E	175	ENSP00000385478:K175E;ENSP00000382249:K175E	ENSP00000382249:K175E	K	-	1	0	ISPD	16412222	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.851000	0.62896	0.440000	0.26502	0.533000	0.62120	AAG		0.393	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426		C	16445697	T	C	16445697	3	2	544	1	0	0	0	0	1	0	0	0	7866	1763	61	3	868	3	ISPD	7	16445697	Missense_Mutation	SNP	T	TCGA-CJ-5679-01A-11D-1534-10	13816091	16445697	142692966	37	29299											
ASB4	51666	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	95157534	95157534	+	Silent	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr7:95157534C>T	ENST00000325885.5	+	3	968	c.897C>T	c.(895-897)cgC>cgT	p.R299R	ASB4_ENST00000428113.1_Silent_p.R299R	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	299					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.R299R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTCCGTGCGCCCTGCTGCCC	0.582											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											78	56	64					7																	95157534		2203	4300	6503	SO:0001819	synonymous_variant	51666			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.897C>T	7.37:g.95157534C>T		1310	A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	CCDS5641.1																																																																																				0.582	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		T	95157534	C	T	95157534	2	4	544	1	0	0	0	0	0	0	0	1	1025	726	26	2		2	ASB4	7	95157534	Silent	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	78711837	95157534	63981129	38	29300											
PILRA	29992	broad.mit.edu;ucsc.edu	37	7	99987688	99987688	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr7:99987688T>G	ENST00000198536.2	+	3	844	c.632T>G	c.(631-633)aTt>aGt	p.I211S	PILRA_ENST00000453419.1_Intron|PILRA_ENST00000350573.2_Intron|PILRA_ENST00000394000.2_Intron	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	211					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I211S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAATCATGATTTTGGGACTG	0.582																																																1	Substitution - Missense(1)	kidney(1)											130	107	115					7																	99987688		2203	4300	6503	SO:0001583	missense	29992			AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"Immunoglobulin superfamily / V-set domain containing"	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.632T>G	7.37:g.99987688T>G	ENSP00000198536:p.Ile211Ser		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229280	0.39399	.	.	ENSG00000085514	ENST00000198536	T	0.40756	1.02	3.73	2.58	0.30949	.	0.900349	0.09305	N	0.820422	T	0.39572	0.1083	M	0.63843	1.955	0.09310	N	0.999999	P	0.50943	0.94	B	0.42653	0.394	T	0.27872	-1.0061	9	.	.	.	.	5.6716	0.17725	0.0:0.1233:0.0:0.8767	.	211	Q9UKJ1	PILRA_HUMAN	S	211	ENSP00000198536:I211S	.	I	+	2	0	PILRA	99825624	0.006000	0.16342	0.007000	0.13788	0.034000	0.12701	0.106000	0.15354	0.798000	0.33994	0.533000	0.62120	ATT		0.582	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		G	99987688	T	G	99987688	3	3	544	1	0	0	0	0	1	0	0	0	11927	1493	52	5	642	5	PILRA	7	99987688	Missense_Mutation	SNP	T	TCGA-CJ-5679-01A-11D-1534-10	4830154	99987688	59150975	39	29301											
OR2A12	346525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	143792898	143792898	+	Missense_Mutation	SNP	G	G	T	rs555296359	byFrequency	TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr7:143792898G>T	ENST00000408949.2	+	1	758	c.698G>T	c.(697-699)cGc>cTc	p.R233L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R233L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GGGGAGGGCCGCAGAAAGGCC	0.592																																																1	Substitution - Missense(1)	kidney(1)											149	144	145					7																	143792898		1964	4148	6112	SO:0001583	missense	346525				CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.698G>T	7.37:g.143792898G>T	ENSP00000386174:p.Arg233Leu		Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396317	0.62177	.	.	ENSG00000221858	ENST00000408949	T	0.00330	8.08	4.33	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.80746	2.51	0.09310	N	1	D	0.58620	0.983	D	0.64042	0.921	T	0.44205	-0.9343	9	0.87932	D	0	-12.5177	10.0057	0.41955	0.1007:0.0:0.8993:0.0	.	233	Q8NGT7	O2A12_HUMAN	L	233	ENSP00000386174:R233L	ENSP00000386174:R233L	R	+	2	0	OR2A12	143423831	0.002000	0.14202	0.959000	0.39883	0.959000	0.62525	1.072000	0.30678	1.043000	0.40175	0.505000	0.49811	CGC		0.592	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			T	143792898	G	T	143792898	3	4	544	1	0	0	0	0	1	0	0	0	10977	1087	38	4	700	4	OR2A12	7	143792898	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	43805210	143792898	15345765	40	29302											
SSPO	23145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	149480310	149480310	+	RNA	SNP	A	A	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr7:149480310A>C	ENST00000378016.2	+	0	2192							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.K66T(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGCCGGCAAGGGAAGATGC	0.627																																																1	Substitution - Missense(1)	kidney(1)											87	92	90					7																	149480310		2146	4247	6393			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149480310A>C			Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																					0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				C	149480310	A	C	149480310	1	2	544	0	1	0	0	0	0	0	0	0	15194	72	3	5		5	SSPO	7	149480310	RNA	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	5687412	149480310	9658353	41	29303											
DOCK5	80005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	25189787	25189787	+	Missense_Mutation	SNP	A	A	T	rs185726789	byFrequency	TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr8:25189787A>T	ENST00000276440.7	+	19	1968	c.1924A>T	c.(1924-1926)Aat>Tat	p.N642Y		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	642					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.N642Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGCTTGTTAAATTGGCGTTC	0.373																																					Pancreas(145;34 1887 3271 10937 30165)											1	Substitution - Missense(1)	kidney(1)											137	123	127					8																	25189787		2203	4300	6503	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1924A>T	8.37:g.25189787A>T	ENSP00000276440:p.Asn642Tyr		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.0|29.0	4.966548|4.966548	0.92855|0.92855	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.24350	.|1.86	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.101061	.|0.64402	.|D	.|0.000003	T|T	0.50188|0.50188	0.1601|0.1601	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.54601	.|0.967;0.967;0.967	.|P;P;P	.|0.62184	.|0.866;0.809;0.899	T|T	0.52983|0.52983	-0.8502|-0.8502	5|10	.|0.72032	.|D	.|0.01	.|.	16.1848|16.1848	0.81942|0.81942	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|632;417;642	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	I|Y	413|642	.|ENSP00000276440:N642Y	.|ENSP00000276440:N642Y	K|N	+|+	2|1	0|0	DOCK5|DOCK5	25245704|25245704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.621000|8.621000	0.90949|0.90949	2.232000|2.232000	0.73038|0.73038	0.528000|0.528000	0.53228|0.53228	AAA|AAT		0.373	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		T	25189787	A	T	25189787	3	4	544	1	0	0	0	0	1	0	0	0	4692	14	1	5	1998	5	DOCK5	8	25189787	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10		25189787	121174235	42	29304											
MTDH	92140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	98703400	98703400	+	Silent	SNP	A	A	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr8:98703400A>C	ENST00000336273.3	+	6	1360	c.1032A>C	c.(1030-1032)tcA>tcC	p.S344S	MTDH_ENST00000519934.1_Silent_p.S321S	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	344					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.S344S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GTGACCGTTCAATATTTTCTG	0.338																																																1	Substitution - coding silent(1)	kidney(1)											112	122	119					8																	98703400		2203	4300	6503	SO:0001819	synonymous_variant	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1032A>C	8.37:g.98703400A>C			Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Silent	SNP	ENST00000336273.3	37	CCDS6274.1																																																																																				0.338	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			C	98703400	A	C	98703400	2	2	544	1	0	0	0	0	0	0	0	1	9919	117	5	5		5	MTDH	8	98703400	Silent	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	73513613	98703400	47660622	43	29305											
MURC	347273	broad.mit.edu;hgsc.bcm.edu	37	9	103348313	103348313	+	Silent	SNP	A	A	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr9:103348313A>C	ENST00000307584.5	+	2	740	c.675A>C	c.(673-675)atA>atC	p.I225I		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	225					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.I225I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GAACTAGAATAGTGACCCCGG	0.458																																																1	Substitution - coding silent(1)	kidney(1)											110	119	116					9																	103348313		2203	4300	6503	SO:0001819	synonymous_variant	347273			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.675A>C	9.37:g.103348313A>C			B1PRL3|B4DT88	Silent	SNP	ENST00000307584.5	37	CCDS35083.1																																																																																				0.458	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		C	103348313	A	C	103348313	2	2	544	1	0	0	0	0	0	0	0	1	9989	410	15	5		5	MURC	9	103348313	Silent	SNP	A	TCGA-CJ-5679-01A-11D-1534-10		103348313	37865118	44	29306											
COL27A1	85301	hgsc.bcm.edu;ucsc.edu	37	9	117053135	117053135	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr9:117053135G>T	ENST00000356083.3	+	48	4805	c.4414G>T	c.(4414-4416)Ggg>Tgg	p.G1472W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1472	Collagen-like 14.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGCCCTGCTGGGAAGAGAGG	0.582											OREG0019416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													38	37	37					9																	117053135		2088	4096	6184	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4414G>T	9.37:g.117053135G>T	ENSP00000348385:p.Gly1472Trp	1478	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444743	0.83993	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99637	-6.29	5.69	5.69	0.88448	.	.	.	.	.	D	0.99806	0.9916	H	0.98133	4.155	0.54753	D	0.99998	D	0.76494	0.999	D	0.75020	0.985	D	0.97004	0.9731	9	0.87932	D	0	.	17.3069	0.87197	0.0:0.0:1.0:0.0	.	1472	Q8IZC6	CORA1_HUMAN	W	1472	ENSP00000348385:G1472W	ENSP00000348385:G1472W	G	+	1	0	COL27A1	116092956	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.097000	0.76967	2.682000	0.91365	0.585000	0.79938	GGG		0.582	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		T	117053135	G	T	117053135	3	4	544	1	0	0	0	0	1	0	0	0	3687	1348	47	4	4604	4	COL27A1	9	117053135	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	13704822	117053135	24160296	45	29307											
FAM129B	64855	broad.mit.edu;hgsc.bcm.edu	37	9	130287413	130287413	+	Silent	SNP	G	G	A	rs370542607		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr9:130287413G>A	ENST00000373312.3	-	4	558	c.345C>T	c.(343-345)gcC>gcT	p.A115A	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Silent_p.A102A	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	115	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A115A(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGTTGATGACGGCTCGTGGTG	0.587																																																1	Substitution - coding silent(1)	kidney(1)						G	,	0,4406		0,0,2203	102	92	95		306,345	-1	0.1	9		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FAM129B	NM_001035534.1,NM_022833.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	102/734,115/747	130287413	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64855			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.345C>T	9.37:g.130287413G>A			Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	CCDS35145.1																																																																																				0.587	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		A	130287413	G	A	130287413	2	1	544	1	0	0	0	0	0	0	0	1	5439	1103	39	1		1	FAM129B	9	130287413	Silent	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	13234278	130287413	10926018	46	29308											
ERCC6	2074	broad.mit.edu;hgsc.bcm.edu	37	10	50732744	50732744	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr10:50732744C>A	ENST00000355832.5	-	5	810	c.732G>T	c.(730-732)caG>caT	p.Q244H	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.Q244H|PGBD3_ENST00000374127.3_5'Flank|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.Q244H|PGBD3_ENST00000603152.1_Missense_Mutation_p.Q244H	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	244					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.Q244H(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGGTGTCATCTGGCCAGTGC	0.502								Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	kidney(1)											82	84	83					10																	50732744		2203	4300	6503	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.732G>T	10.37:g.50732744C>A	ENSP00000348089:p.Gln244His		D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895807	0.72639	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.84589	-1.87;3.07;3.07	6.03	6.03	0.97812	.	.	.	.	.	D	0.84138	0.5406	L	0.58669	1.825	0.80722	D	1	P;B	0.42692	0.787;0.229	B;B	0.39217	0.294;0.132	D	0.84795	0.0781	9	0.51188	T	0.08	-26.6447	18.7472	0.91797	0.0:1.0:0.0:0.0	.	244;244	E7EV46;Q03468	.;ERCC6_HUMAN	H	244	ENSP00000348089:Q244H;ENSP00000423550:Q244H;ENSP00000387966:Q244H	ENSP00000348089:Q244H	Q	-	3	2	ERCC6;RP11-123B3.6	50402750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.396000	0.44468	2.854000	0.98071	0.655000	0.94253	CAG		0.502	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		A	50732744	C	A	50732744	3	1	544	1	0	0	0	0	1	0	0	0	5219	912	32	4	3817	4	ERCC6	10	50732744	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10		50732744	84802003	47	29309											
C10orf53	282966	broad.mit.edu	37	10	50887761	50887761	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr10:50887761delG	ENST00000374111.3	+	1	30	c.18delG	c.(16-18)gtgfs	p.V7fs	C10orf53_ENST00000374113.3_Frame_Shift_Del_p.V7fs|C10orf53_ENST00000535836.1_Frame_Shift_Del_p.V7fs|C10orf53_ENST00000374112.3_Frame_Shift_Del_p.V7fs|CHAT_ENST00000455728.2_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	7										endometrium(1)|lung(6)	7		all_neural(218;0.107)				AGAACGCAGTGGTCATCCTGC	0.697																																																0													23	17	19					10																	50887761		1918	3623	5541	SO:0001589	frameshift_variant	282966			BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.18delG	10.37:g.50887761delG	ENSP00000363225:p.Val7fs		A6NI81|A6NLE0|B9ZVK6	Frame_Shift_Del	DEL	ENST00000374111.3	37	CCDS41521.1																																																																																				0.697	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		-	50887761	G	-	50887761	7	5	544	1	0	1	0	1	0	0	0	0	1608	1335	47	0	20	0	C10orf53	10	50887761	Frame_Shift_Del	DEL	G	TCGA-CJ-5679-01A-11D-1534-10	155017	50887761	84646986	48	29310											
CTNNA3	29119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	68940123	68940123	+	Silent	SNP	G	G	A	rs146754105	byFrequency	TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr10:68940123G>A	ENST00000433211.2	-	7	1173	c.999C>T	c.(997-999)aaC>aaT	p.N333N	CTNNA3_ENST00000373744.4_Silent_p.N333N|CTNNA3_ENST00000545309.1_Silent_p.N333N	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.N333N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGCGAATGGCGTTGCATTCTG	0.517													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17885	0.002		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)						G	,	0,4406		0,0,2203	137	118	124		999,999	-11.4	0.2	10	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CTNNA3	NM_001127384.1,NM_013266.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	333/896,333/896	68940123	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.999C>T	10.37:g.68940123G>A				Silent	SNP	ENST00000433211.2	37	CCDS7269.1																																																																																				0.517	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		A	68940123	G	A	68940123	2	1	544	1	0	0	0	0	0	0	0	1	4016	1136	40	1		1	CTNNA3	10	68940123	Silent	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	18052362	68940123	66594624	49	29311											
WDR11	55717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	122624668	122624668	+	Missense_Mutation	SNP	G	G	C	rs145467317		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr10:122624668G>C	ENST00000263461.6	+	6	1069	c.823G>C	c.(823-825)Gtg>Ctg	p.V275L		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.V275L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGACCTTGAGGTGAATCAGAC	0.378																																																1	Substitution - Missense(1)	kidney(1)											141	136	138					10																	122624668		2203	4300	6503	SO:0001583	missense	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.823G>C	10.37:g.122624668G>C	ENSP00000263461:p.Val275Leu		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093433	0.56075	.	.	ENSG00000120008	ENST00000263461	D	0.89552	-2.53	5.96	5.96	0.96718	WD40 repeat-like-containing domain (1);	0.052030	0.85682	D	0.000000	T	0.81427	0.4820	N	0.12182	0.205	0.53688	D	0.999976	B	0.14012	0.009	B	0.14578	0.011	T	0.74003	-0.3804	10	0.21540	T	0.41	-21.974	20.422	0.99049	0.0:0.0:1.0:0.0	.	275	Q9BZH6	WDR11_HUMAN	L	275	ENSP00000263461:V275L	ENSP00000263461:V275L	V	+	1	0	WDR11	122614658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.912000	0.75753	2.832000	0.97577	0.655000	0.94253	GTG		0.378	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			C	122624668	G	C	122624668	3	2	544	1	0	0	0	0	1	0	0	0	17278	1261	44	4	845	4	WDR11	10	122624668	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	53684545	122624668	12910079	50	29312											
TRIM22	10346	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5727831	5727831	+	Missense_Mutation	SNP	T	T	C	rs370736499		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr11:5727831T>C	ENST00000379965.3	+	5	1035	c.758T>C	c.(757-759)aTt>aCt	p.I253T	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	253					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.I253T(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CAGGATGTGATTGACGTCATG	0.353													T|||	1	0.000199681	0.0	0.0	5008	,	,		15593	0.0		0.001	False		,,,				2504	0.0				GBM(104;491 2336 5222)											1	Substitution - Missense(1)	kidney(1)						T	THR/ILE,THR/ILE	0,3650		0,0,1825	156	138	144		746,758	-7.2	0	11		144	1,8155		0,1,4077	no	missense,missense	TRIM22	NM_001199573.1,NM_006074.4	89,89	0,1,5902	CC,CT,TT		0.0123,0.0,0.0085	benign,benign	249/495,253/499	5727831	1,11805	1825	4078	5903	SO:0001583	missense	10346			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.758T>C	11.37:g.5727831T>C	ENSP00000369299:p.Ile253Thr		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	T	7.243	0.601726	0.13939	0.0	1.23E-4	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000454828;ENST00000455293;ENST00000450670	T;T;T	0.30981	3.64;3.64;1.51	3.59	-7.19	0.01500	.	.	.	.	.	T	0.17959	0.0431	L	0.47716	1.5	0.09310	N	1	P;P;B;B	0.36874	0.572;0.454;0.217;0.212	B;B;B;B	0.31946	0.114;0.115;0.138;0.05	T	0.05115	-1.0905	9	0.29301	T	0.29	.	5.8935	0.18927	0.158:0.0:0.1981:0.6439	.	175;221;249;253	F8WAP8;C9JWC5;Q8IYM9-2;Q8IYM9	.;.;.;TRI22_HUMAN	T	253;64;221;175;3	ENSP00000369299:I253T;ENSP00000393250:I221T;ENSP00000406412:I3T	ENSP00000369299:I253T	I	+	2	0	TRIM22	5684407	0.000000	0.05858	0.000000	0.03702	0.516000	0.34256	-1.151000	0.03175	-1.675000	0.01459	0.383000	0.25322	ATT		0.353	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		C	5727831	T	C	5727831	3	2	544	1	0	0	0	0	1	0	0	0	16501	1493	52	3	772	3	TRIM22	11	5727831	Missense_Mutation	SNP	T	TCGA-CJ-5679-01A-11D-1534-10		5727831	129278685	51	29313											
C11orf42	160298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6231300	6231300	+	Missense_Mutation	SNP	G	G	A	rs148934108		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr11:6231300G>A	ENST00000316375.2	+	2	343	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	98								p.R98Q(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGCACTCGGGAATACTCA	0.607																																																1	Substitution - Missense(1)	kidney(1)						G	GLN/ARG	0,4402		0,0,2201	67	68	68		293	4.3	1	11	dbSNP_134	68	1,8591	1.2+/-3.3	0,1,4295	no	missense	C11orf42	NM_173525.2	43	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	98/334	6231300	1,12993	2201	4296	6497	SO:0001583	missense	160298			BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.293G>A	11.37:g.6231300G>A	ENSP00000321021:p.Arg98Gln			Missense_Mutation	SNP	ENST00000316375.2	37	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	G	9.049	0.991704	0.18966	0.0	1.16E-4	ENSG00000180878	ENST00000316375	T	0.47528	0.84	5.22	4.31	0.51392	.	0.000000	0.50627	D	0.000111	T	0.31263	0.0791	N	0.24115	0.695	0.28666	N	0.905885	B	0.12630	0.006	B	0.12156	0.007	T	0.15378	-1.0439	10	0.26408	T	0.33	-16.1366	9.8198	0.40876	0.0931:0.0:0.9069:0.0	.	98	Q8N5U0	CK042_HUMAN	Q	98	ENSP00000321021:R98Q	ENSP00000321021:R98Q	R	+	2	0	C11orf42	6187876	0.991000	0.36638	1.000000	0.80357	0.975000	0.68041	1.034000	0.30204	1.439000	0.47511	-0.439000	0.05793	CGG		0.607	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		A	6231300	G	A	6231300	3	1	544	1	0	0	0	0	1	0	0	0	1643	1116	39	1	299	1	C11orf42	11	6231300	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	503469	6231300	128775216	52	29314			1	47		3	3	445	N	G_C	9.646901e-07
C11orf42	160298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6231320	6231320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr11:6231320C>T	ENST00000316375.2	+	2	363	c.313C>T	c.(313-315)Cga>Tga	p.R105*	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	105								p.R105R(1)|p.R105*(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAAATGGCCGAGCAGAGAG	0.577																																																2	Substitution - Nonsense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											80	81	81					11																	6231320		2201	4296	6497	SO:0001587	stop_gained	160298			BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.313C>T	11.37:g.6231320C>T	ENSP00000321021:p.Arg105*			Nonsense_Mutation	SNP	ENST00000316375.2	37	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125554	0.56721	.	.	ENSG00000180878	ENST00000316375	.	.	.	5.22	-0.704	0.11256	.	0.292440	0.24007	N	0.042403	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0391	3.2699	0.06878	0.4649:0.3098:0.1384:0.087	.	.	.	.	X	105	.	ENSP00000321021:R105X	R	+	1	2	C11orf42	6187896	0.784000	0.28713	0.929000	0.37066	0.936000	0.57629	-0.038000	0.12144	0.041000	0.15688	0.484000	0.47621	CGA		0.577	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		T	6231320	C	T	6231320	4	4	544	1	0	0	0	0	0	1	0	0	1643	644	23	1	319	1	C11orf42	11	6231320	Nonsense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	20	6231320	128775196	53	29315			1	47		3	3	445	N	G_C	9.646901e-07
C11orf42	160298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6231744	6231744	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr11:6231744C>T	ENST00000316375.2	+	2	787	c.737C>T	c.(736-738)aCt>aTt	p.T246I	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	246	Pro-rich.							p.T246I(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGATACAACTGAAGCTGCT	0.612																																																1	Substitution - Missense(1)	kidney(1)											48	54	52					11																	6231744		2201	4296	6497	SO:0001583	missense	160298			BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.737C>T	11.37:g.6231744C>T	ENSP00000321021:p.Thr246Ile			Missense_Mutation	SNP	ENST00000316375.2	37	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	C	0.151	-1.091222	0.01858	.	.	ENSG00000180878	ENST00000316375	T	0.43688	0.94	5.13	0.888	0.19206	.	0.786555	0.11473	N	0.560477	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.25710	-1.0124	10	0.15499	T	0.54	1.6062	3.2956	0.06965	0.1824:0.5158:0.0:0.3018	.	246	Q8N5U0	CK042_HUMAN	I	246	ENSP00000321021:T246I	ENSP00000321021:T246I	T	+	2	0	C11orf42	6188320	0.000000	0.05858	0.002000	0.10522	0.542000	0.35054	0.003000	0.13083	0.332000	0.23536	0.585000	0.79938	ACT		0.612	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		T	6231744	C	T	6231744	3	4	544	1	0	0	0	0	1	0	0	0	1643	565	20	2	743	2	C11orf42	11	6231744	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	424	6231744	128774772	54	29316			1	47		3	3	445	N	G_C	9.646901e-07
SBF2	81846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	9868520	9868520	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr11:9868520T>G	ENST00000256190.8	-	23	3054	c.2917A>C	c.(2917-2919)Aca>Cca	p.T973P	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	973					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.T973P(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GATGCTGATGTGATCTGCAGT	0.393																																																1	Substitution - Missense(1)	kidney(1)											222	196	205					11																	9868520		2201	4294	6495	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2917A>C	11.37:g.9868520T>G	ENSP00000256190:p.Thr973Pro		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914813	0.52546	.	.	ENSG00000133812	ENST00000256190	D	0.83075	-1.68	6.03	6.03	0.97812	.	0.165693	0.49916	D	0.000121	T	0.72439	0.3460	N	0.22421	0.69	0.40626	D	0.981817	B	0.34329	0.449	B	0.30782	0.12	T	0.75958	-0.3134	10	0.87932	D	0	.	12.4101	0.55461	0.0:0.0:0.14:0.86	.	973	Q86WG5	MTMRD_HUMAN	P	973	ENSP00000256190:T973P	ENSP00000256190:T973P	T	-	1	0	SBF2	9825096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.825000	0.48096	2.308000	0.77769	0.533000	0.62120	ACA		0.393	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		G	9868520	T	G	9868520	3	3	544	1	0	0	0	0	1	0	0	0	13865	1696	59	5	2704	5	SBF2	11	9868520	Missense_Mutation	SNP	T	TCGA-CJ-5679-01A-11D-1534-10	3636776	9868520	125137996	55	29317											
MICALCL	84953	broad.mit.edu;hgsc.bcm.edu	37	11	12316279	12316279	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr11:12316279A>C	ENST00000256186.2	+	3	1592	c.1301A>C	c.(1300-1302)gAa>gCa	p.E434A		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	434					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.E434A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GTGCTGCCTGAAGATAGTGCG	0.552																																																1	Substitution - Missense(1)	kidney(1)											63	67	65					11																	12316279		1959	4134	6093	SO:0001583	missense	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1301A>C	11.37:g.12316279A>C	ENSP00000256186:p.Glu434Ala		Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	A	1.855	-0.464062	0.04476	.	.	ENSG00000133808	ENST00000256186	T	0.11495	2.77	4.97	-6.59	0.01830	.	1.880630	0.02874	N	0.132027	T	0.05686	0.0149	L	0.29908	0.895	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.34800	-0.9814	10	0.09590	T	0.72	.	1.9774	0.03418	0.1866:0.3914:0.13:0.2921	.	434	Q6ZW33	MICLK_HUMAN	A	434	ENSP00000256186:E434A	ENSP00000256186:E434A	E	+	2	0	MICALCL	12272855	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.095000	0.01350	-1.312000	0.02306	-0.710000	0.03640	GAA		0.552	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		C	12316279	A	C	12316279	3	2	544	1	0	0	0	0	1	0	0	0	9574	246	9	5	1307	5	MICALCL	11	12316279	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	2447759	12316279	122690237	56	29318											
TNKS1BP1	85456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57076422	57076422	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr11:57076422C>T	ENST00000532437.1	-	5	4074	c.3763G>A	c.(3763-3765)Gtg>Atg	p.V1255M	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V1255M|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1255	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.V1255M(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GTCTGCCCCACGCCACTCTCT	0.577																																																1	Substitution - Missense(1)	kidney(1)											150	153	152					11																	57076422		2201	4296	6497	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3763G>A	11.37:g.57076422C>T	ENSP00000437271:p.Val1255Met		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867352	0.72065	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.36340	1.26;1.26	5.2	5.2	0.72013	.	0.135229	0.33572	N	0.004773	T	0.59595	0.2205	M	0.72894	2.215	0.31878	N	0.618827	D	0.89917	1.0	D	0.79108	0.992	T	0.68112	-0.5495	10	0.72032	D	0.01	-19.3694	15.6536	0.77115	0.0:1.0:0.0:0.0	.	1255	Q9C0C2	TB182_HUMAN	M	1255	ENSP00000350990:V1255M;ENSP00000437271:V1255M	ENSP00000350990:V1255M	V	-	1	0	TNKS1BP1	56832998	0.025000	0.19082	0.988000	0.46212	0.847000	0.48162	0.202000	0.17295	2.434000	0.82447	0.462000	0.41574	GTG		0.577	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		T	57076422	C	T	57076422	3	4	544	1	0	0	0	0	1	0	0	0	16325	536	19	1	1450	1	TNKS1BP1	11	57076422	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	44760143	57076422	77930094	57	29319											
SLC37A2	219855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124955896	124955896	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr11:124955896C>T	ENST00000403796.2	+	17	1773	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	SLC37A2_ENST00000298280.5_3'UTR|SLC37A2_ENST00000308074.4_Missense_Mutation_p.S491F|SLC37A2_ENST00000407458.1_Missense_Mutation_p.S491F|SLC37A2_ENST00000525837.1_3'UTR	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	491					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.S491F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TGGAAGGTGTCCCTGAGCAGA	0.577																																					Melanoma(11;373 620 21213 26083 47768)											2	Substitution - Missense(2)	kidney(2)											104	89	94					11																	124955896		2201	4299	6500	SO:0001583	missense	219855			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1472C>T	11.37:g.124955896C>T	ENSP00000384407:p.Ser491Phe		A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	ENST00000403796.2	37	CCDS44757.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569955	0.28003	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000308074	T;T;T	0.32272	1.47;1.46;1.46	4.9	-0.51	0.11973	.	0.662303	0.15794	N	0.244315	T	0.15392	0.0371	N	0.22421	0.69	0.09310	N	1	B;B;B	0.12013	0.002;0.005;0.003	B;B;B	0.11329	0.004;0.006;0.002	T	0.15037	-1.0451	10	0.52906	T	0.07	-4.3824	2.0187	0.03504	0.2299:0.4237:0.1878:0.1585	.	116;491;491	B7Z480;Q8TED4-2;Q8TED4	.;.;SPX2_HUMAN	F	491	ENSP00000384407:S491F;ENSP00000385126:S491F;ENSP00000311833:S491F	ENSP00000311833:S491F	S	+	2	0	SLC37A2	124461106	0.000000	0.05858	0.006000	0.13384	0.370000	0.29829	-0.325000	0.07976	0.241000	0.21283	0.655000	0.94253	TCC		0.577	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		T	124955896	C	T	124955896	3	4	544	1	0	0	0	0	1	0	0	0	14604	855	30	2	1538	2	SLC37A2	11	124955896	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	67879474	124955896	10050620	58	29320											
C1S	716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7177889	7177889	+	Silent	SNP	G	G	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr12:7177889G>T	ENST00000406697.1	+	15	2629	c.2001G>T	c.(1999-2001)cgG>cgT	p.R667R	C1S_ENST00000328916.3_Silent_p.R667R|C1S_ENST00000402681.3_Silent_p.R500R|C1S_ENST00000360817.5_Silent_p.R667R			P09871	C1S_HUMAN	complement component 1, s subcomponent	667	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.R667R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTACACACGGGTAAAGAACT	0.537																																					GBM(156;750 1943 12971 24779 31015)											1	Substitution - coding silent(1)	kidney(1)											108	116	113					12																	7177889		2203	4300	6503	SO:0001819	synonymous_variant	716				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.2001G>T	12.37:g.7177889G>T			D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	CCDS31735.1																																																																																				0.537	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		T	7177889	G	T	7177889	2	4	544	1	0	0	0	0	0	0	0	1	1976	1219	43	4		4	C1S	12	7177889	Silent	SNP	G	TCGA-CJ-5679-01A-11D-1534-10		7177889	126674006	59	29321											
C1R	715	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7242701	7242701	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr12:7242701A>T	ENST00000542285.1	-	3	521	c.372T>A	c.(370-372)aaT>aaA	p.N124K	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	125	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.N139K(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGATGGTCCCATTCTCCTCGT	0.532																																																1	Substitution - Missense(1)	kidney(1)											57	59	58					12																	7242701		1956	4138	6094	SO:0001583	missense	715			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"Complement system"	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.372T>A	12.37:g.7242701A>T	ENSP00000438615:p.Asn124Lys		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37		.	.	.	.	.	.	.	.	.	.	A	20.4	3.982800	0.74474	.	.	ENSG00000159403	ENST00000542220;ENST00000536053;ENST00000535233;ENST00000290575;ENST00000542285;ENST00000540610;ENST00000543835;ENST00000541042;ENST00000540242;ENST00000538050	T;T;T;T;T;T	0.34275	2.41;1.37;1.37;1.37;2.41;1.37	5.43	-4.43	0.03568	CUB (5);	0.144532	0.48286	D	0.000196	T	0.52273	0.1724	.	.	.	0.80722	D	1	D;D;B	0.71674	0.998;0.994;0.27	D;D;B	0.67231	0.939;0.95;0.27	T	0.58086	-0.7698	9	0.62326	D	0.03	.	12.7581	0.57347	0.5187:0.0:0.4813:0.0	.	91;139;125	F5H2D0;B4DPQ0;P00736	.;.;C1R_HUMAN	K	125;139;91;139;124;20;100;20;125;20	ENSP00000438615:N124K;ENSP00000439223:N20K;ENSP00000445285:N100K;ENSP00000441601:N20K;ENSP00000442946:N125K;ENSP00000444009:N20K	ENSP00000290575:N139K	N	-	3	2	C1R	7133842	0.131000	0.22433	0.947000	0.38551	0.977000	0.68977	-0.543000	0.06084	-0.856000	0.04120	0.379000	0.24179	AAT		0.532	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		T	7242701	A	T	7242701	3	4	544	1	0	0	0	0	1	0	0	0	1974	214	8	5	1457	5	C1R	12	7242701	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	64812	7242701	126609194	60	29322											
ATP2B1	490	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	90003742	90003742	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr12:90003742A>T	ENST00000428670.3	-	15	2870	c.2414T>A	c.(2413-2415)cTa>cAa	p.L805Q	ATP2B1_ENST00000359142.3_Missense_Mutation_p.L805Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.L805Q|ATP2B1_ENST00000348959.3_Missense_Mutation_p.L805Q|ATP2B1_ENST00000393164.2_Missense_Mutation_p.L548Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	805					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.L805Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGCTTTCTTTAGTGCTGGGCC	0.363																																																2	Substitution - Missense(2)	kidney(2)											130	117	121					12																	90003742		2203	4300	6503	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2414T>A	12.37:g.90003742A>T	ENSP00000392043:p.Leu805Gln		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796074	0.90453	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.99825	4.815	0.80722	D	1	P;D;D	0.89917	0.928;1.0;1.0	P;D;D	0.91635	0.541;0.999;0.998	D	0.97892	1.0298	10	0.87932	D	0	-3.9893	16.3786	0.83431	1.0:0.0:0.0:0.0	.	805;805;805	P20020-3;P20020-2;P20020-6	.;.;.	Q	805;805;805;805;548	ENSP00000261173:L805Q;ENSP00000343599:L805Q;ENSP00000352054:L805Q;ENSP00000392043:L805Q;ENSP00000376869:L548Q	ENSP00000261173:L805Q	L	-	2	0	ATP2B1	88527873	0.992000	0.36948	0.836000	0.33094	0.978000	0.69477	9.339000	0.96797	2.323000	0.78572	0.528000	0.53228	CTA		0.363	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		T	90003742	A	T	90003742	3	4	544	1	0	0	0	0	1	0	0	0	1139	420	15	5	1434	5	ATP2B1	12	90003742	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	82761041	90003742	43848153	61	29323											
CHPT1	56994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	102120124	102120124	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr12:102120124T>A	ENST00000229266.3	+	8	1353	c.1118T>A	c.(1117-1119)aTt>aAt	p.I373N	CHPT1_ENST00000549872.1_Missense_Mutation_p.I373N	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	373					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)	p.I373N(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGCCTGCAAATTTCAAGACAC	0.333																																																1	Substitution - Missense(1)	kidney(1)											150	147	148					12																	102120124		2203	4300	6503	SO:0001583	missense	56994				CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"phosphatidylcholine synthesizing enzyme"					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.1118T>A	12.37:g.102120124T>A	ENSP00000229266:p.Ile373Asn		B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	ENST00000229266.3	37	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405414	0.62288	.	.	ENSG00000111666	ENST00000229266;ENST00000549872;ENST00000543999	T;T	0.54071	0.59;0.62	5.88	5.88	0.94601	.	0.047789	0.85682	D	0.000000	T	0.76870	0.4048	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81339	-0.0977	10	0.87932	D	0	-11.0096	16.2792	0.82664	0.0:0.0:0.0:1.0	.	373;373	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	N	373;373;206	ENSP00000229266:I373N;ENSP00000448766:I373N	ENSP00000229266:I373N	I	+	2	0	CHPT1	100644255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.649000	0.74364	2.243000	0.73865	0.533000	0.62120	ATT		0.333	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		A	102120124	T	A	102120124	3	1	544	1	0	0	0	0	1	0	0	0	3372	1493	52	5	1148	5	CHPT1	12	102120124	Missense_Mutation	SNP	T	TCGA-CJ-5679-01A-11D-1534-10	12116382	102120124	31731771	62	29324											
SRRM4	84530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	119552153	119552153	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr12:119552153C>T	ENST00000267260.4	+	3	737	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	117	Lys-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.R117W(2)|p.R214W(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAAATCCACTCGGAAGAAGAG	0.473																																																3	Substitution - Missense(3)	kidney(3)											72	69	70					12																	119552153		1916	4131	6047	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.349C>T	12.37:g.119552153C>T	ENSP00000267260:p.Arg117Trp		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485638	0.44147	.	.	ENSG00000139767	ENST00000267260	T	0.32272	1.46	4.63	2.71	0.32032	.	0.164203	0.40728	N	0.001032	T	0.49184	0.1542	M	0.64404	1.975	0.37717	D	0.924798	D	0.89917	1.0	D	0.91635	0.999	T	0.54708	-0.8253	10	0.66056	D	0.02	-3.1817	10.7947	0.46453	0.3565:0.6435:0.0:0.0	.	117	A7MD48	SRRM4_HUMAN	W	117	ENSP00000267260:R117W	ENSP00000267260:R117W	R	+	1	2	SRRM4	118036536	0.577000	0.26708	0.851000	0.33527	0.993000	0.82548	0.783000	0.26802	0.615000	0.30124	-0.310000	0.09108	CGG		0.473	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		T	119552153	C	T	119552153	3	4	544	1	0	0	0	0	1	0	0	0	15176	875	31	1	359	1	SRRM4	12	119552153	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	17432029	119552153	14299742	63	29325											
SBNO1	55206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123812074	123812074	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr12:123812074A>G	ENST00000602398.1	-	13	1718	c.1591T>C	c.(1591-1593)Tac>Cac	p.Y531H	SBNO1_ENST00000602750.1_Missense_Mutation_p.Y530H|SBNO1_ENST00000267176.4_Missense_Mutation_p.Y530H|SBNO1_ENST00000420886.2_Missense_Mutation_p.Y531H			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	531					regulation of transcription, DNA-templated (GO:0006355)			p.Y530H(1)		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)		CGAGCAATGTACATTCCTCTA	0.353																																																1	Substitution - Missense(1)	kidney(1)											72	71	71					12																	123812074		2203	4300	6503	SO:0001583	missense	55206			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.1591T>C	12.37:g.123812074A>G	ENSP00000473665:p.Tyr531His		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699236	0.88830	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.51817	0.69;0.69	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.85310	0.1078	10	0.87932	D	0	-13.1551	16.5763	0.84648	1.0:0.0:0.0:0.0	.	531;530;529	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	H	531;530;530	ENSP00000387361:Y531H;ENSP00000267176:Y530H	ENSP00000267176:Y530H	Y	-	1	0	SBNO1	122378027	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.310000	0.96267	2.317000	0.78254	0.459000	0.35465	TAC		0.353	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		G	123812074	A	G	123812074	3	3	544	1	0	0	0	0	1	0	0	0	13868	391	14	3	2670	3	SBNO1	12	123812074	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	4259921	123812074	10039821	64	29326											
DHX37	57647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	125435351	125435351	+	Splice_Site	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr12:125435351C>T	ENST00000308736.2	-	22	2967		c.e22-1		DHX37_ENST00000544745.1_Splice_Site	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37								ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.?(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGAGAGGGGTCTGCAGAGAAT	0.552																																																1	Unknown(1)	kidney(1)											82	97	92					12																	125435351		2203	4300	6503	SO:0001630	splice_region_variant	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2869-1G>A	12.37:g.125435351C>T			Q9BUI7|Q9P211	Splice_Site	SNP	ENST00000308736.2	37	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263138	0.59431	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8723	0.92320	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX37	124001304	1.000000	0.71417	0.996000	0.52242	0.473000	0.32948	7.448000	0.80631	2.467000	0.83353	0.561000	0.74099	.		0.552	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656	Intron	T	125435351	C	T	125435351	5	4	544	1	0	0	0	0	0	0	1	0	4512	927	32	2	629	2	DHX37	12	125435351	Splice_Site	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	1623277	125435351	8416544	65	29327											
SPRY2	10253	broad.mit.edu	37	13	80911818	80911818	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr13:80911818C>T	ENST00000377102.1	-	2	1000	c.23G>A	c.(22-24)gGc>gAc	p.G8D	SPRY2_ENST00000540649.1_Missense_Mutation_p.G8D|SPRY2_ENST00000377104.3_Missense_Mutation_p.G8D			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	8					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)	p.G8D(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CGACCCGTTGCCACTCTGAGC	0.607																																																1	Substitution - Missense(1)	kidney(1)											38	41	40					13																	80911818		2203	4300	6503	SO:0001583	missense	10253			AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.23G>A	13.37:g.80911818C>T	ENSP00000366306:p.Gly8Asp		B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596406	0.66332	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.60040	0.22;0.22;0.22	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.71581	2.175	0.50171	D	0.999856	B	0.27351	0.176	B	0.19666	0.026	T	0.62110	-0.6923	10	0.62326	D	0.03	-0.8358	18.8229	0.92105	0.0:1.0:0.0:0.0	.	8	O43597	SPY2_HUMAN	D	8	ENSP00000366308:G8D;ENSP00000366306:G8D;ENSP00000439027:G8D	ENSP00000366306:G8D	G	-	2	0	SPRY2	79809819	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.538000	0.53597	2.455000	0.83008	0.650000	0.86243	GGC		0.607	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			T	80911818	C	T	80911818	3	4	544	1	0	0	0	0	1	0	0	0	15111	739	26	2	928	2	SPRY2	13	80911818	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10		80911818	34258060	66	29328											
ATP6V1D	51382	hgsc.bcm.edu;ucsc.edu	37	14	67819728	67819728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr14:67819728delT	ENST00000216442.7	-	2	621	c.71delA	c.(70-72)aagfs	p.K24fs	ATP6V1D_ENST00000555474.1_Frame_Shift_Del_p.K24fs|ATP6V1D_ENST00000554236.1_Frame_Shift_Del_p.K24fs|ATP6V1D_ENST00000555431.1_Intron	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	24					cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		CTGTGCTCCCTTTAAACGAGC	0.378																																																0													238	246	244					14																	67819728		2203	4300	6503	SO:0001589	frameshift_variant	51382			AF145316	CCDS9780.1	14q23-q24.2	2010-04-21	2002-08-29	2002-05-10	ENSG00000100554	ENSG00000100554		"ATPases / V-type"	13527	protein-coding gene	gene with protein product		609398	"ATPase, H+ transporting, lysosomal (vacuolar proton pump)"	ATP6M		9442887	Standard	NM_015994		Approved	VATD, VMA8	uc001xjf.3	Q9Y5K8		ENST00000216442.7:c.71delA	14.37:g.67819728delT	ENSP00000216442:p.Lys24fs		B2RE33|Q9Y688	Frame_Shift_Del	DEL	ENST00000216442.7	37	CCDS9780.1																																																																																				0.378	ATP6V1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412511.1	NM_015994		-	67819728	T	-	67819728	7	5	544	1	0	1	0	1	0	0	0	0	1182	1609	56	0	704	0	ATP6V1D	14	67819728	Frame_Shift_Del	DEL	T	TCGA-CJ-5679-01A-11D-1534-10		67819728	39529812	67	29329											
SNW1	22938	hgsc.bcm.edu;ucsc.edu	37	14	78184785	78184797	+	Frame_Shift_Del	DEL	CTCTGGGCCATAT	CTCTGGGCCATAT	-	rs571130787		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	CTCTGGGCCATAT	CTCTGGGCCATAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr14:78184785_78184797delCTCTGGGCCATAT	ENST00000261531.7	-	13	1387_1399	c.1325_1337delATATGGCCCAGAG	c.(1324-1338)gatatggcccagagtfs	p.DMAQS442fs	SNW1_ENST00000554775.1_Frame_Shift_Del_p.DMAQS280fs|SNW1_ENST00000555761.1_Frame_Shift_Del_p.DMAQS442fs|SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	442					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.D442D(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCTATAAATACTCTGGGCCATATCTTTACCACC	0.408																																																1	Substitution - coding silent(1)	kidney(1)																																								SO:0001589	frameshift_variant	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1325_1337delATATGGCCCAGAG	14.37:g.78184785_78184797delCTCTGGGCCATAT	ENSP00000261531:p.Asp442fs		A8K8A9|Q13483|Q32N03|Q5D0D6	Frame_Shift_Del	DEL	ENST00000261531.7	37	CCDS9867.1																																																																																				0.408	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		-	78184797	CTCTGGGCCATAT	-	78184785	7	5	544	1	0	1	0	1	0	0	0	0	14885	565	20	0	281	0	SNW1	14	78184785	Frame_Shift_Del	DEL	CTCTGGGCCATAT	TCGA-CJ-5679-01A-11D-1534-10	10365057	78184785	29164755	68	29330											
SECISBP2L	9728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49301479	49301479	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr15:49301479C>A	ENST00000559471.1	-	14	2224	c.1961G>T	c.(1960-1962)aGt>aTt	p.S654I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S609I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	654							poly(A) RNA binding (GO:0044822)	p.S609I(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TATTCCAGAACTAGCAGGAGA	0.413																																																1	Substitution - Missense(1)	kidney(1)											187	164	172					15																	49301479		2197	4295	6492	SO:0001583	missense	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1961G>T	15.37:g.49301479C>A	ENSP00000453854:p.Ser654Ile		Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790621	0.90367	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74106	-0.81	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	L	0.58669	1.825	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.79108	0.97;0.992	D	0.85194	0.1011	10	0.66056	D	0.02	.	19.7573	0.96299	0.0:1.0:0.0:0.0	.	654;609	Q93073;Q93073-2	SBP2L_HUMAN;.	I	609;654	ENSP00000261847:S609I	ENSP00000261847:S609I	S	-	2	0	SECISBP2L	47088771	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.237000	0.78164	2.757000	0.94681	0.655000	0.94253	AGT		0.413	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		A	49301479	C	A	49301479	3	1	544	1	0	0	0	0	1	0	0	0	14013	565	20	4	1364	4	SECISBP2L	15	49301479	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10		49301479	53229913	69	29331											
HEXA	3073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72640389	72640389	+	Splice_Site	SNP	G	G	A	rs552505619		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr15:72640389G>A	ENST00000268097.5	-	9	1576	c.1073C>T	c.(1072-1074)aCg>aTg	p.T358M	RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Splice_Site_p.T185M|HEXA_ENST00000566304.1_Splice_Site_p.T369M|HEXA_ENST00000457859.2_Splice_Site_p.T166M|HEXA_ENST00000567159.1_Splice_Site_p.T358M	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	358					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.T358M(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCTTCCTCACGTCTGGATGTA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		12614	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											64	62	63					15																	72640389		2199	4297	6496	SO:0001630	splice_region_variant	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1073+1C>T	15.37:g.72640389G>A			B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762731	0.49574	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.97620	-3.78;-4.46;-3.78	5.55	-3.71	0.04424	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.471231	0.23622	N	0.046240	D	0.90573	0.7045	L	0.38175	1.15	0.34479	D	0.70362	B;B;B;B;B	0.22480	0.039;0.032;0.039;0.018;0.07	B;B;B;B;B	0.26094	0.002;0.066;0.002;0.011;0.011	T	0.77960	-0.2391	9	.	.	.	-1.3951	0.8207	0.01111	0.1932:0.2193:0.1748:0.4127	.	185;369;185;238;358	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	M	358;166;185	ENSP00000268097:T358M;ENSP00000398026:T166M;ENSP00000416187:T185M	.	T	-	2	0	HEXA	70427443	0.829000	0.29322	0.993000	0.49108	0.943000	0.58893	-0.112000	0.10791	-0.294000	0.08973	0.655000	0.94253	ACG		0.577	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520	Missense_Mutation	A	72640389	G	A	72640389	5	1	544	1	0	0	0	0	0	0	1	0	7075	1159	40	1	540	1	HEXA	15	72640389	Splice_Site	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	23338910	72640389	29891003	70	29332											
A2BP1	54715	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	7645620	7645620	+	Missense_Mutation	SNP	G	G	A	rs372761949		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr16:7645620G>A	ENST00000550418.1	+	8	1526	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	RBFOX1_ENST00000311745.5_Missense_Mutation_p.V200M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V223M|RBFOX1_ENST00000340209.4_Missense_Mutation_p.V185M|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V200M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V200M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V197M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V180M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V180M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V223M	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	180	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.V200M(6)|p.V180M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ACACGGCACCGTGGTAGAGGG	0.448																																					Ovarian(157;934 2567 15163 39509)											7	Substitution - Missense(7)	kidney(3)|ovary(2)|prostate(2)						G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4393	2.1+/-5.4	0,1,2196	169	151	157		538,538,538,598,598,598	5.8	1	16		157	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	RBFOX1	NM_001142333.1,NM_001142334.1,NM_018723.3,NM_145891.2,NM_145892.2,NM_145893.2	21,21,21,21,21,21	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	180/371,180/398,180/398,200/419,200/393,200/396	7645620	1,12993	2197	4300	6497	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.538G>A	16.37:g.7645620G>A	ENSP00000450031:p.Val180Met		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079368	0.36662	2.28E-4	0.0	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	N	0.11673	0.155	0.58432	D	0.99999	B;P;D;P;D;B;B;P	0.89917	0.406;0.805;1.0;0.62;1.0;0.366;0.419;0.871	B;B;D;B;D;B;B;B	0.80764	0.208;0.433;0.923;0.119;0.994;0.074;0.189;0.208	T	0.23547	-1.0185	10	0.51188	T	0.08	-9.9013	19.975	0.97300	0.0:0.0:1.0:0.0	.	200;223;200;200;200;180;180;223	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	M	179;180;180;223;223;197;180;180;200;200;200;200;185	ENSP00000450402:V179M;ENSP00000450031:V180M;ENSP00000447753:V180M;ENSP00000446842:V223M;ENSP00000391269:V223M;ENSP00000448496:V197M;ENSP00000447281:V180M;ENSP00000447717:V180M;ENSP00000402745:V200M;ENSP00000309117:V200M;ENSP00000347855:V200M;ENSP00000344196:V185M	ENSP00000309117:V200M	V	+	1	0	RBFOX1	7585621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.653000	0.46691	2.724000	0.93272	0.585000	0.79938	GTG		0.448	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		A	7645620	G	A	7645620	3	1	544	1	0	0	0	0	1	0	0	0	3	1145	40	1	647	1	A2BP1	16	7645620	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10		7645620	82709133	71	29333											
MKL2	57496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	14334311	14334311	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr16:14334311A>T	ENST00000341243.5	+	8	1016	c.1016A>T	c.(1015-1017)aAc>aTc	p.N339I	MKL2_ENST00000574045.1_Missense_Mutation_p.N350I|MKL2_ENST00000572567.1_Missense_Mutation_p.N339I|MKL2_ENST00000318282.5_Missense_Mutation_p.N350I|MKL2_ENST00000571589.1_Missense_Mutation_p.N350I|MKL2_ENST00000573051.1_Missense_Mutation_p.N299I			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	339					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.N350I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCACTACAACTACCAGACC	0.532																																																1	Substitution - Missense(1)	kidney(1)											108	100	103					16																	14334311		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1016A>T	16.37:g.14334311A>T	ENSP00000345841:p.Asn339Ile		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37		.	.	.	.	.	.	.	.	.	.	A	22.0	4.234065	0.79688	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	.	.	.	5.78	2.34	0.29019	.	0.042919	0.85682	D	0.000000	T	0.75606	0.3872	M	0.76838	2.35	0.48975	D	0.999736	D;P;D;D	0.89917	0.973;0.954;0.999;1.0	P;P;D;D	0.87578	0.696;0.684;0.944;0.998	T	0.73216	-0.4053	9	0.56958	D	0.05	-16.4209	9.1368	0.36879	0.7982:0.0:0.2018:0.0	.	299;350;339;350	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	I	350;339;339	.	ENSP00000339086:N350I	N	+	2	0	MKL2	14241812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.103000	0.71492	0.126000	0.18424	0.533000	0.62120	AAC		0.532	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		T	14334311	A	T	14334311	3	4	544	1	0	0	0	0	1	0	0	0	9604	43	2	5	1079	5	MKL2	16	14334311	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	6688691	14334311	76020442	72	29334											
PDILT	204474	hgsc.bcm.edu;ucsc.edu	37	16	20384428	20384428	+	Missense_Mutation	SNP	C	C	T	rs141043720	byFrequency	TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr16:20384428C>T	ENST00000302451.4	-	6	946	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	233					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AAGCTTTTGGCGGTTCACAAT	0.358																																																0													194	186	189					16																	20384428		2203	4300	6503	SO:0001583	missense	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.698G>A	16.37:g.20384428C>T	ENSP00000305465:p.Arg233His		Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435279	0.25813	.	.	ENSG00000169340	ENST00000302451	T	0.31510	1.49	4.82	3.8	0.43715	Thioredoxin-like fold (2);	0.498124	0.22895	N	0.054324	T	0.37785	0.1016	L	0.57536	1.79	0.29313	N	0.8679	D	0.65815	0.995	P	0.51918	0.684	T	0.29058	-1.0024	10	0.59425	D	0.04	.	9.3493	0.38129	0.2293:0.7707:0.0:0.0	.	233	Q8N807	PDILT_HUMAN	H	233	ENSP00000305465:R233H	ENSP00000305465:R233H	R	-	2	0	PDILT	20291929	0.999000	0.42202	0.995000	0.50966	0.139000	0.21198	1.395000	0.34520	2.492000	0.84095	0.563000	0.77884	CGC		0.358	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		T	20384428	C	T	20384428	3	4	544	1	0	0	0	0	1	0	0	0	11676	768	27	1	1084	1	PDILT	16	20384428	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	6050117	20384428	69970325	73	29335											
ZP2	7783	hgsc.bcm.edu	37	16	21208874	21208875	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr16:21208874_21208875insC	ENST00000574002.1	-	20	2646_2647	c.2164_2165insG	c.(2164-2166)gccfs	p.A722fs	ZP2_ENST00000574091.1_Frame_Shift_Ins_p.A713fs|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Frame_Shift_Ins_p.A722fs			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	722					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ACCTGCAAAGGCAGCCACAGCA	0.46																																																0																																										SO:0001589	frameshift_variant	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2165dupG	16.37:g.21208875_21208875dupC	ENSP00000460971:p.Ala722fs		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Frame_Shift_Ins	INS	ENST00000574002.1	37	CCDS10596.1																																																																																				0.46	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			C	21208875	-	C	21208874	7	5	544	1	0	1	1	0	0	0	0	0	18221	1203	42	0	76	0	ZP2	16	21208874	Frame_Shift_Ins	INS	-	TCGA-CJ-5679-01A-11D-1534-10	824446	21208874	69145879	74	29336											
SLC5A11	115584	broad.mit.edu;hgsc.bcm.edu	37	16	24921753	24921753	+	Missense_Mutation	SNP	G	G	A	rs572775623		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr16:24921753G>A	ENST00000347898.3	+	15	2399	c.1777G>A	c.(1777-1779)Gtc>Atc	p.V593I	SLC5A11_ENST00000568579.1_Missense_Mutation_p.V523I|SLC5A11_ENST00000545376.1_Missense_Mutation_p.V523I|SLC5A11_ENST00000569071.1_Missense_Mutation_p.V437I|SLC5A11_ENST00000567758.1_Missense_Mutation_p.V558I|SLC5A11_ENST00000449109.2_Missense_Mutation_p.V437I|SLC5A11_ENST00000565769.1_Missense_Mutation_p.V529I|SLC5A11_ENST00000539472.1_Missense_Mutation_p.V529I|SLC5A11_ENST00000424767.2_Missense_Mutation_p.V558I	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.V593I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CAGCAGCAGCGTCCAGTTCGA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16146	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											98	76	83					16																	24921753		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1777G>A	16.37:g.24921753G>A	ENSP00000289932:p.Val593Ile			Missense_Mutation	SNP	ENST00000347898.3	37	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.120544	0.01785	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	0.158	0.158	0.14942	.	2.550580	0.00941	N	0.002832	T	0.30448	0.0765	N	0.02011	-0.69	0.09310	N	1	B;B;B;P	0.39404	0.0;0.001;0.0;0.672	B;B;B;B	0.29524	0.0;0.001;0.0;0.103	T	0.28427	-1.0044	9	0.33141	T	0.24	.	.	.	.	.	523;558;593;437	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	I	593;437;558;523;529	ENSP00000289932:V593I;ENSP00000389606:V437I;ENSP00000416782:V558I;ENSP00000441384:V523I;ENSP00000441018:V529I	ENSP00000289932:V593I	V	+	1	0	SLC5A11	24829254	0.000000	0.05858	0.012000	0.15200	0.251000	0.25915	-0.428000	0.06991	0.202000	0.20498	0.205000	0.17691	GTC		0.532	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		A	24921753	G	A	24921753	3	1	544	1	0	0	0	0	1	0	0	0	14669	1145	40	1	1831	1	SLC5A11	16	24921753	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	3712879	24921753	65433000	75	29337											
SULT1A1	6817	broad.mit.edu	37	16	28620121	28620121	+	Missense_Mutation	SNP	G	G	A	rs200542791	byFrequency	TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr16:28620121G>A	ENST00000395607.1	-	2	329	c.56C>T	c.(55-57)cCg>cTg	p.P19L	SULT1A1_ENST00000395609.1_Missense_Mutation_p.P19L|SULT1A1_ENST00000314752.7_Missense_Mutation_p.P19L|SULT1A1_ENST00000569554.1_Missense_Mutation_p.P19L|SULT1A1_ENST00000350842.4_Intron	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	19					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)	p.P19L(2)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	CTTGATGAGCGGGACCCCCTT	0.632																																																2	Substitution - Missense(2)	kidney(2)											36	36	36					16																	28620121		2197	4293	6490	SO:0001583	missense	6817			U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.56C>T	16.37:g.28620121G>A	ENSP00000378971:p.Pro19Leu		Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	.	10.83	1.461115	0.26248	.	.	ENSG00000196502	ENST00000314752;ENST00000395609;ENST00000395607	T;T;T	0.01560	4.77;4.77;4.77	2.5	1.49	0.22878	.	0.000000	0.64402	D	0.000001	T	0.02807	0.0084	N	0.24115	0.695	0.47037	D	0.999295	D	0.89917	1.0	D	0.76071	0.987	T	0.57225	-0.7848	10	0.06625	T	0.88	.	7.8438	0.29414	0.1395:0.0:0.8605:0.0	.	19	P50225	ST1A1_HUMAN	L	19	ENSP00000321988:P19L;ENSP00000378972:P19L;ENSP00000378971:P19L	ENSP00000321988:P19L	P	-	2	0	SULT1A1	28527622	0.990000	0.36364	0.082000	0.20525	0.073000	0.16967	2.174000	0.42482	0.605000	0.29947	0.306000	0.20318	CCG		0.632	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		A	28620121	G	A	28620121	3	1	544	1	0	0	0	0	1	0	0	0	15377	1116	39	1	859	1	SULT1A1	16	28620121	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	3698368	28620121	61734632	76	29338											
SRCAP	10847	broad.mit.edu;hgsc.bcm.edu	37	16	30734026	30734026	+	Silent	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr16:30734026C>T	ENST00000262518.4	+	23	4234	c.3849C>T	c.(3847-3849)acC>acT	p.T1283T	SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1283	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.T1283T(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAGCACCACCCCTGCCCCTA	0.657																																																1	Substitution - coding silent(1)	kidney(1)											119	125	123					16																	30734026		2070	4188	6258	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3849C>T	16.37:g.30734026C>T			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.657	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30734026	C	T	30734026	2	4	544	1	0	0	0	0	0	0	0	1	15140	610	22	2		2	SRCAP	16	30734026	Silent	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	2113905	30734026	59620727	77	29339											
CNGB1	1258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57991272	57991272	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr16:57991272A>T	ENST00000251102.8	-	12	907	c.847T>A	c.(847-849)Tcc>Acc	p.S283T	CNGB1_ENST00000564448.1_Missense_Mutation_p.S277T|CNGB1_ENST00000311183.4_Missense_Mutation_p.S283T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	283					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.S283T(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ATCCCAGGGGAGTCAGGCTCC	0.517																																					Colon(156;1293 1853 16336 28962 38659)											1	Substitution - Missense(1)	kidney(1)											85	93	90					16																	57991272		2020	4189	6209	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.847T>A	16.37:g.57991272A>T	ENSP00000251102:p.Ser283Thr		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.841762	0.51057	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.96967	-4.19;0.76	3.17	2.05	0.26809	.	0.966309	0.08382	N	0.954422	D	0.92273	0.7549	L	0.38175	1.15	0.09310	N	1	P;B	0.42518	0.782;0.231	B;B	0.40375	0.327;0.037	D	0.84223	0.0462	10	0.21540	T	0.41	.	6.4589	0.21946	0.7486:0.2514:0.0:0.0	.	283;283	Q14028-3;Q14028	.;CNGB1_HUMAN	T	283	ENSP00000251102:S283T;ENSP00000311670:S283T	ENSP00000251102:S283T	S	-	1	0	CNGB1	56548773	0.000000	0.05858	0.007000	0.13788	0.321000	0.28281	-0.583000	0.05807	0.592000	0.29728	0.459000	0.35465	TCC		0.517	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		T	57991272	A	T	57991272	3	4	544	1	0	0	0	0	1	0	0	0	3602	304	11	5	3026	5	CNGB1	16	57991272	Missense_Mutation	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	27257246	57991272	32363481	78	29340											
KIF1C	10749	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4923903	4923903	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr17:4923903G>A	ENST00000320785.5	+	20	2224	c.1867G>A	c.(1867-1869)Gac>Aac	p.D623N	AC109333.10_ENST00000438266.1_RNA|KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	623					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.D623N(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TGAGCCAGTCGACTGGAACTT	0.617																																					Melanoma(96;1023 1447 10250 19259 33730)											1	Substitution - Missense(1)	kidney(1)											50	51	51					17																	4923903		2203	4300	6503	SO:0001583	missense	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1867G>A	17.37:g.4923903G>A	ENSP00000320821:p.Asp623Asn		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946724	0.92593	.	.	ENSG00000129250	ENST00000320785	T	0.78595	-1.19	5.68	5.68	0.88126	.	.	.	.	.	D	0.89842	0.6832	M	0.88310	2.945	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.91098	0.4912	9	0.66056	D	0.02	.	17.2981	0.87174	0.0:0.0:1.0:0.0	.	623	O43896	KIF1C_HUMAN	N	623	ENSP00000320821:D623N	ENSP00000320821:D623N	D	+	1	0	KIF1C	4864627	1.000000	0.71417	0.961000	0.40146	0.749000	0.42624	9.771000	0.98977	2.683000	0.91414	0.655000	0.94253	GAC		0.617	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			A	4923903	G	A	4923903	3	1	544	1	0	0	0	0	1	0	0	0	8287	1058	37	1	1937	1	KIF1C	17	4923903	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10		4923903	76271307	79	29341											
GAS7	8522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	9873005	9873005	+	Missense_Mutation	SNP	C	C	T	rs545830122		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr17:9873005C>T	ENST00000432992.2	-	4	620	c.460G>A	c.(460-462)Ggt>Agt	p.G154S	GAS7_ENST00000579158.1_Missense_Mutation_p.G90S|GAS7_ENST00000323816.4_Missense_Mutation_p.G94S|GAS7_ENST00000396115.2_Missense_Mutation_p.G90S|GAS7_ENST00000437099.2_Missense_Mutation_p.G90S|GAS7_ENST00000542249.1_Missense_Mutation_p.G90S|GAS7_ENST00000585266.1_Missense_Mutation_p.G94S|GAS7_ENST00000578655.1_Intron|GAS7_ENST00000540214.1_Missense_Mutation_p.G90S	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	154					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G154S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGGGAATCACCGGTGGATTTT	0.562			T	MLL	AML*								C|||	1	0.000199681	0.0	0.0	5008	,	,		19756	0.001		0.0	False		,,,				2504	0.0						Dom	yes		17	17p	8522	growth arrest-specific 7		L	1	Substitution - Missense(1)	kidney(1)											147	121	130					17																	9873005		2203	4300	6503	SO:0001583	missense	8522			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.460G>A	17.37:g.9873005C>T	ENSP00000407552:p.Gly154Ser		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.946137	0.34377	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000540214;ENST00000537970	T;T	0.44482	2.19;0.92	4.76	4.76	0.60689	.	0.529823	0.19253	N	0.118872	T	0.27697	0.0681	N	0.19112	0.55	0.80722	D	1	B;B;B	0.19583	0.037;0.037;0.037	B;B;B	0.10450	0.005;0.005;0.005	T	0.05699	-1.0869	9	.	.	.	-10.3362	13.4409	0.61112	0.0:1.0:0.0:0.0	.	106;94;154	B7Z2L1;A8KAC2;O60861	.;.;GAS7_HUMAN	S	154;94;93;90;94	ENSP00000379421:G94S;ENSP00000446214:G90S	.	G	-	1	0	GAS7	9813730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.594000	0.46189	2.645000	0.89757	0.591000	0.81541	GGT		0.562	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		T	9873005	C	T	9873005	3	4	544	1	0	0	0	0	1	0	0	0	6252	652	23	1	1065	1	GAS7	17	9873005	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	4949102	9873005	71322205	80	29342											
CCDC144A	9720	broad.mit.edu	37	17	16596346	16596346	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr17:16596346C>T	ENST00000360524.8	+	2	474	c.398C>T	c.(397-399)cCt>cTt	p.P133L	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.P133L|CCDC144A_ENST00000399273.1_Missense_Mutation_p.P133L|CCDC144A_ENST00000456009.1_Missense_Mutation_p.P133L|CCDC144A_ENST00000443444.2_Missense_Mutation_p.P133L|CCDC144A_ENST00000436374.1_3'UTR|RNU6-405P_ENST00000516637.1_RNA|CCDC144A_ENST00000340621.5_Missense_Mutation_p.P133L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	133								p.P133L(1)									GAAAGTCTTCCTCAAAATAAC	0.303																																																1	Substitution - Missense(1)	kidney(1)											1	1	1					17																	16596346		377	888	1265	SO:0001583	missense	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.398C>T	17.37:g.16596346C>T	ENSP00000353717:p.Pro133Leu		O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	10.23	1.292022	0.23564	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	1.67	0.657	0.17850	.	.	.	.	.	T	0.40645	0.1125	N	0.22421	0.69	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.18587	-1.0332	9	0.62326	D	0.03	.	3.7876	0.08707	0.0:0.7571:0.0:0.2429	.	133	A2RUR9	C144A_HUMAN	L	133	ENSP00000344740:P133L;ENSP00000382215:P133L;ENSP00000439262:P133L;ENSP00000440655:P133L;ENSP00000353717:P133L;ENSP00000394201:P133L;ENSP00000353685:P133L	ENSP00000344740:P133L	P	+	2	0	CCDC144A	16537071	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	0.172000	0.16704	0.263000	0.21812	0.423000	0.28283	CCT		0.303	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			T	16596346	C	T	16596346	3	4	544	1	0	0	0	0	1	0	0	0	2779	681	24	2	404	2	CCDC144A	17	16596346	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	6723341	16596346	64598864	81	29343											
MYO18A	399687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27417116	27417116	+	Splice_Site	SNP	G	G	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr17:27417116G>C	ENST00000527372.1	-	37	5569	c.5389C>G	c.(5389-5391)Cta>Gta	p.L1797V	TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000354329.4_Splice_Site_p.L1797V|MYO18A_ENST00000533112.1_Splice_Site_p.L1760V|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_Splice_Site_p.L1797V	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1797					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.L1797V(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGGGCTTGTAGCTAGAGGTGG	0.577																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											2	Substitution - Missense(2)	kidney(2)											30	31	31					17																	27417116		1994	4172	6166	SO:0001630	splice_region_variant	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5389-1C>G	17.37:g.27417116G>C			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.863826|1.863826	0.32884|0.32884	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105|ENST00000527859	T;D;T;T|.	0.83506|.	-0.85;-1.73;-0.85;-0.85|.	5.2|5.2	3.11|3.11	0.35812|0.35812	Myosin tail (1);|.	0.078542|.	0.51477|.	D|.	0.000100|.	T|T	0.58623|0.58623	0.2135|0.2135	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.33940|.	0.433;0.433;0.433;0.187|.	B;B;B;B|.	0.34301|.	0.179;0.117;0.117;0.072|.	T|T	0.55909|0.55909	-0.8066|-0.8066	10|5	0.10377|.	T|.	0.69|.	.|.	6.5337|6.5337	0.22341|0.22341	0.1521:0.0:0.6936:0.1544|0.1521:0.0:0.6936:0.1544	.|.	1400;1760;1797;1797|.	F8W6Y3;Q92614-3;Q92614-4;Q92614|.	.;.;.;MY18A_HUMAN|.	V|R	1797;1760;1760;1797;1797;693;693;1400;78|59	ENSP00000346291:L1797V;ENSP00000435932:L1760V;ENSP00000434228:L1797V;ENSP00000437073:L1797V|.	ENSP00000346291:L1797V|.	L|S	-|-	1|3	2|2	MYO18A|MYO18A	24441242|24441242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	2.323000|2.323000	0.43823|0.43823	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	CTA|AGC		0.577	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	Missense_Mutation	C	27417116	G	C	27417116	5	2	544	1	0	0	0	0	0	0	1	0	10067	985	34	4	799	4	MYO18A	17	27417116	Splice_Site	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	10820770	27417116	53778094	82	29344											
DNAH17	8632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76450661	76450661	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr17:76450661C>T	ENST00000585328.1	-	64	10406	c.10282G>A	c.(10282-10284)Ggc>Agc	p.G3428S	DNAH17_ENST00000389840.5_Missense_Mutation_p.G3419S|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3419	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G3428S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCGGTGTTGCCCAGGATGGTG	0.602																																																1	Substitution - Missense(1)	kidney(1)											111	84	93					17																	76450661		2203	4300	6503	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10282G>A	17.37:g.76450661C>T	ENSP00000465516:p.Gly3428Ser		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	12.01	1.808321	0.31961	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55930	0.49	5.11	2.84	0.33178	.	0.084736	0.52532	D	0.000076	T	0.10594	0.0259	N	0.00028	-2.63	0.23716	N	0.997033	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	10	0.22109	T	0.4	.	6.6654	0.23037	0.5908:0.1408:0.0:0.2683	.	3428	E7EUM8	.	S	3428;3419	ENSP00000374490:G3419S	ENSP00000300671:G3428S	G	-	1	0	DNAH17	73962256	0.991000	0.36638	0.997000	0.53966	0.947000	0.59692	2.479000	0.45197	0.251000	0.21505	-0.272000	0.10252	GGC		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		T	76450661	C	T	76450661	3	4	544	1	0	0	0	0	1	0	0	0	4603	623	22	2	3163	2	DNAH17	17	76450661	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	49033545	76450661	4744549	83	29345											
SHD	56961	broad.mit.edu;hgsc.bcm.edu	37	19	4280225	4280225	+	Silent	SNP	G	G	A	rs368273049		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr19:4280225G>A	ENST00000543264.2	+	1	1628	c.165G>A	c.(163-165)ccG>ccA	p.P55P	SHD_ENST00000599689.1_Silent_p.P55P	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	55								p.P55P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGGAGCCGGACCCCGCGG	0.652																																																1	Substitution - coding silent(1)	kidney(1)						G		1,4405		0,1,2202	19	24	22		165	-9.2	0	19		22	0,8600		0,0,4300	no	coding-synonymous	SHD	NM_020209.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		55/341	4280225	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56961			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.165G>A	19.37:g.4280225G>A			Q96NC2	Silent	SNP	ENST00000543264.2	37	CCDS12125.1																																																																																				0.652	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		A	4280225	G	A	4280225	2	1	544	1	0	0	0	0	0	0	0	1	14281	1103	39	1		1	SHD	19	4280225	Silent	SNP	G	TCGA-CJ-5679-01A-11D-1534-10		4280225	54848758	84	29346											
DPP9	91039	broad.mit.edu;ucsc.edu	37	19	4719861	4719861	+	Splice_Site	SNP	A	A	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr19:4719861A>T	ENST00000598800.1	-	3	277		c.e3+1		DPP9_ENST00000597849.1_Splice_Site|DPP9_ENST00000262960.9_Splice_Site			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9							cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)	p.?(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGCCAACCTCACCTTCTCCAA	0.592																																																1	Unknown(1)	kidney(1)											99	100	100					19																	4719861		692	1591	2283	SO:0001630	splice_region_variant	91039			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.228+1T>A	19.37:g.4719861A>T			O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Splice_Site	SNP	ENST00000598800.1	37		.	.	.	.	.	.	.	.	.	.	A	13.97	2.396339	0.42512	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	.	.	.	3.29	3.29	0.37713	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.529	0.39182	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPP9	4670861	1.000000	0.71417	0.959000	0.39883	0.585000	0.36419	5.466000	0.66731	1.374000	0.46228	0.459000	0.35465	.		0.592	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2		Intron	T	4719861	A	T	4719861	5	4	544	1	0	0	0	0	0	0	1	0	4735	173	6	5	2700	5	DPP9	19	4719861	Splice_Site	SNP	A	TCGA-CJ-5679-01A-11D-1534-10	439636	4719861	54409122	85	29347											
C19orf39	126074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11486488	11486489	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr19:11486488_11486489delTC	ENST00000312423.2	+	2	545_546	c.486_487delTC	c.(484-489)tttcctfs	p.P163fs	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	163					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										AGCGGTATTTTCCTGCCCAGTG	0.668																																																0																																										SO:0001589	frameshift_variant	0			AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"zinc finger, SWIM-type containing 7 associated protein 1", "SWS1-associated protein 1"	614536	"chromosome 19 open reading frame 39"	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.486_487delTC	19.37:g.11486488_11486489delTC	ENSP00000310008:p.Pro163fs		Q8NAM1	Frame_Shift_Del	DEL	ENST00000312423.2	37	CCDS12259.1																																																																																				0.668	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		-	11486489	TC	-	11486488	7	5	544	1	0	1	0	1	0	0	0	0	1924	1780	62	0	492	0	C19orf39	19	11486488	Frame_Shift_Del	DEL	TC	TCGA-CJ-5679-01A-11D-1534-10	6766627	11486488	47642495	86	29348											
ZNF226	7769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44680985	44680985	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr19:44680985G>C	ENST00000590089.1	+	7	1937	c.1570G>C	c.(1570-1572)Gtc>Ctc	p.V524L	ZNF226_ENST00000454662.2_Missense_Mutation_p.V524L|ZNF226_ENST00000337433.5_Missense_Mutation_p.V524L|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V524L(1)					Prostate(69;0.0352)|all_neural(266;0.202)				TCATCTAGTGGTCCACACAGG	0.448																																					Pancreas(115;581 1665 13228 19278 50070)											1	Substitution - Missense(1)	kidney(1)											68	73	71					19																	44680985		2194	4298	6492	SO:0001583	missense	7769			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1570G>C	19.37:g.44680985G>C	ENSP00000465121:p.Val524Leu		Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569452	0.45798	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.00986	5.47;5.47	3.92	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.636474	0.12006	N	0.508350	T	0.01730	0.0055	N	0.25286	0.73	0.09310	N	1	D	0.71674	0.998	D	0.83275	0.996	T	0.54721	-0.8251	10	0.48119	T	0.1	.	2.2299	0.03994	0.2619:0.0:0.4774:0.2607	.	524	Q9NYT6	ZN226_HUMAN	L	524	ENSP00000336719:V524L;ENSP00000393265:V524L	ENSP00000336719:V524L	V	+	1	0	ZNF226	49372825	0.001000	0.12720	0.665000	0.29768	0.997000	0.91878	0.532000	0.23067	0.978000	0.38470	0.655000	0.94253	GTC		0.448	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			C	44680985	G	C	44680985	3	2	544	1	0	0	0	0	1	0	0	0	17785	1261	44	4	1638	4	ZNF226	19	44680985	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	33194497	44680985	14447998	87	29349											
ZNF610	162963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52869427	52869427	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr19:52869427G>A	ENST00000403906.3	+	6	1252	c.796G>A	c.(796-798)Gac>Aac	p.D266N	ZNF610_ENST00000327920.8_Missense_Mutation_p.D266N|ZNF610_ENST00000321287.8_Missense_Mutation_p.D266N|ZNF610_ENST00000601151.1_Missense_Mutation_p.D223N	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D266N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TAGTGAATGTGACAAGGTGTT	0.398																																																1	Substitution - Missense(1)	kidney(1)											55	53	54					19																	52869427		2203	4300	6503	SO:0001583	missense	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.796G>A	19.37:g.52869427G>A	ENSP00000383922:p.Asp266Asn		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362626	0.61403	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.07327	3.2;3.2	1.82	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06050	0.0157	N	0.11698	0.16	0.24222	N	0.995438	P;P	0.42123	0.73;0.771	B;B	0.42282	0.263;0.382	T	0.35624	-0.9781	9	0.72032	D	0.01	.	9.1995	0.37249	0.0:0.0:1.0:0.0	.	223;266	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	N	266;223;266	ENSP00000383922:D266N;ENSP00000327597:D266N	ENSP00000324441:D223N	D	+	1	0	ZNF610	57561239	0.176000	0.23096	0.045000	0.18777	0.074000	0.17049	0.401000	0.20948	0.983000	0.38602	0.467000	0.42956	GAC		0.398	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		A	52869427	G	A	52869427	3	1	544	1	0	0	0	0	1	0	0	0	18041	1290	45	2	810	2	ZNF610	19	52869427	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	8188442	52869427	6259556	88	29350											
NRIP1	8204	hgsc.bcm.edu	37	21	16338707	16338707	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr21:16338707T>A	ENST00000400202.1	-	3	2519	c.1807A>T	c.(1807-1809)Aca>Tca	p.T603S	NRIP1_ENST00000400199.1_Missense_Mutation_p.T603S|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.T603S			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	603	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTGCTTTTTGTAAGGTCCATT	0.428																																																0													249	252	251					21																	16338707		2203	4300	6503	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1807A>T	21.37:g.16338707T>A	ENSP00000383063:p.Thr603Ser		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	5.750	0.322728	0.10900	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.20200	2.09;2.09;2.09	6.02	4.85	0.62838	.	0.144434	0.46758	D	0.000278	T	0.20007	0.0481	L	0.50333	1.59	0.21878	N	0.999499	B	0.18310	0.027	B	0.17722	0.019	T	0.14783	-1.0460	10	0.30078	T	0.28	-24.6424	11.1104	0.48230	0.2593:0.0:0.0:0.7407	.	603	P48552	NRIP1_HUMAN	S	603	ENSP00000383060:T603S;ENSP00000383063:T603S;ENSP00000327213:T603S	ENSP00000327213:T603S	T	-	1	0	NRIP1	15260578	1.000000	0.71417	0.854000	0.33618	0.714000	0.41099	4.540000	0.60664	1.064000	0.40671	0.533000	0.62120	ACA		0.428	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		A	16338707	T	A	16338707	3	1	544	1	0	0	0	0	1	0	0	0	10654	1638	57	5	1673	5	NRIP1	21	16338707	Missense_Mutation	SNP	T	TCGA-CJ-5679-01A-11D-1534-10		16338707	31791188	89	29351											
USP25	29761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	17205757	17205757	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr21:17205757G>A	ENST00000285679.6	+	17	2453	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	USP25_ENST00000285681.2_Missense_Mutation_p.R695Q|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.R695Q	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	695					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.R695Q(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GACAACCAACGATTTGAAAAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											71	75	74					21																	17205757		2203	4300	6503	SO:0001583	missense	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2084G>A	21.37:g.17205757G>A	ENSP00000285679:p.Arg695Gln		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.788101	0.49997	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.23754	1.89;1.89;1.9	5.24	4.34	0.51931	.	0.196762	0.44688	D	0.000435	T	0.13457	0.0326	N	0.17631	0.505	0.24410	N	0.994662	B;B;B	0.30455	0.28;0.105;0.003	B;B;B	0.18561	0.022;0.022;0.001	T	0.13683	-1.0500	10	0.24483	T	0.36	.	9.9311	0.41523	0.1527:0.0:0.8473:0.0	.	695;695;695	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	Q	695	ENSP00000285681:R695Q;ENSP00000285679:R695Q;ENSP00000383044:R695Q	ENSP00000285679:R695Q	R	+	2	0	USP25	16127628	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.814000	0.38972	2.615000	0.88500	0.591000	0.81541	CGA		0.408	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			A	17205757	G	A	17205757	3	1	544	1	0	0	0	0	1	0	0	0	17061	1058	37	1	2150	1	USP25	21	17205757	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	867050	17205757	30924138	90	29352											
MTMR3	8897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30418102	30418102	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr22:30418102G>A	ENST00000401950.2	+	18	3652	c.3310G>A	c.(3310-3312)Gag>Aag	p.E1104K	MTMR3_ENST00000323630.5_Missense_Mutation_p.E968K|MTMR3_ENST00000406629.1_Intron|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Intron|MTMR3_ENST00000351488.3_Intron	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1104					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.E1104K(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AGCCAGCTGGGAGCAGGTGGA	0.507																																																1	Substitution - Missense(1)	kidney(1)											75	70	71					22																	30418102		2203	4300	6503	SO:0001583	missense	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3310G>A	22.37:g.30418102G>A	ENSP00000384651:p.Glu1104Lys		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152628	0.94645	.	.	ENSG00000100330	ENST00000401950;ENST00000323630	D;D	0.94092	-3.16;-3.35	5.32	5.32	0.75619	.	0.130552	0.56097	D	0.000032	D	0.94909	0.8354	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.95274	0.8380	10	0.72032	D	0.01	.	18.1693	0.89740	0.0:0.0:1.0:0.0	.	1104	Q13615	MTMR3_HUMAN	K	1104;968	ENSP00000384651:E1104K;ENSP00000318070:E968K	ENSP00000318070:E968K	E	+	1	0	MTMR3	28748102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.253000	0.95501	2.767000	0.95098	0.655000	0.94253	GAG		0.507	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		A	30418102	G	A	30418102	3	1	544	1	0	0	0	0	1	0	0	0	9947	1175	41	2	3372	2	MTMR3	22	30418102	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10		30418102	20886464	91	29353											
EIF3L	51386	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38270461	38270461	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr22:38270461G>A	ENST00000412331.2	+	9	1418	c.836G>A	c.(835-837)cGc>cAc	p.R279H	EIF3L_ENST00000381683.6_Missense_Mutation_p.R231H|EIF3L_ENST00000406934.1_Missense_Mutation_p.R181H	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L									p.R279H(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGCTTCTCCGCCTGCACTCC	0.547																																																1	Substitution - Missense(1)	kidney(1)											142	112	122					22																	38270461		2203	4300	6503	SO:0001583	missense	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.836G>A	22.37:g.38270461G>A	ENSP00000416892:p.Arg279His			Missense_Mutation	SNP	ENST00000412331.2	37	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834672	0.91036	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.58652	0.32;0.32;0.32	4.96	4.96	0.65561	Tetratricopeptide-like helical (1);	0.156481	0.56097	D	0.000023	T	0.81158	0.4764	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.982;0.982;0.996;0.998	D	0.84854	0.0815	10	0.59425	D	0.04	-6.0165	18.6585	0.91463	0.0:0.0:1.0:0.0	.	231;181;279;322	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	H	279;322;231;246;181	ENSP00000416892:R279H;ENSP00000371099:R231H;ENSP00000384634:R181H	ENSP00000262832:R246H	R	+	2	0	EIF3L	36600407	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.823000	0.99369	2.485000	0.83878	0.543000	0.68304	CGC		0.547	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		A	38270461	G	A	38270461	3	1	544	1	0	0	0	0	1	0	0	0	5024	1087	38	1	870	1	EIF3L	22	38270461	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	7852359	38270461	13034105	92	29354											
SREBF2	6721	broad.mit.edu	37	22	42276853	42276853	+	Missense_Mutation	SNP	G	G	A	rs377649542	byFrequency	TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chr22:42276853G>A	ENST00000361204.4	+	10	2061	c.1895G>A	c.(1894-1896)cGc>cAc	p.R632H		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	632					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R632H(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAGAAGCTACGCCTGGTGCGC	0.652													G|||	3	0.000599042	0.0	0.0014	5008	,	,		16520	0.002		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											36	37	36					22																	42276853		2203	4300	6503	SO:0001583	missense	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1895G>A	22.37:g.42276853G>A	ENSP00000354476:p.Arg632His		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305992	0.60305	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.07688	3.17	4.95	4.95	0.65309	.	0.297614	0.37623	N	0.002011	T	0.03608	0.0103	N	0.03608	-0.345	0.34191	D	0.672	D	0.58620	0.983	B	0.35312	0.2	T	0.43491	-0.9388	10	0.42905	T	0.14	-20.6961	14.8681	0.70434	0.0:0.1547:0.8453:0.0	.	632	Q12772	SRBP2_HUMAN	H	632	ENSP00000354476:R632H	ENSP00000354476:R632H	R	+	2	0	SREBF2	40606799	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.561000	0.60809	2.292000	0.77174	0.478000	0.44815	CGC		0.652	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		A	42276853	G	A	42276853	3	1	544	1	0	0	0	0	1	0	0	0	15147	1087	38	1	1933	1	SREBF2	22	42276853	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	4006392	42276853	9027713	93	29355											
SYTL5	94122	broad.mit.edu;hgsc.bcm.edu	37	X	37935825	37935825	+	Frame_Shift_Del	DEL	T	T	-	rs144659697		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chrX:37935825delT	ENST00000357972.5	+	6	1106	c.560delT	c.(559-561)cttfs	p.L188fs	SYTL5_ENST00000456733.2_Frame_Shift_Del_p.L188fs|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Frame_Shift_Del_p.L188fs			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	188					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTCAGATTTCTTCTTAGCAAG	0.313																																																0													35	28	31					X																	37935825		2201	4299	6500	SO:0001589	frameshift_variant	94122				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.560delT	X.37:g.37935825delT	ENSP00000350657:p.Leu188fs		A2RRF2	Frame_Shift_Del	DEL	ENST00000357972.5	37	CCDS14244.1																																																																																				0.313	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		-	37935825	T	-	37935825	7	5	544	1	0	1	0	1	0	0	0	0	15491	1609	56	0	578	0	SYTL5	23	37935825	Frame_Shift_Del	DEL	T	TCGA-CJ-5679-01A-11D-1534-10		37935825	117334735	94	29356											
TSPYL2	64061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53115408	53115408	+	Missense_Mutation	SNP	G	G	T	rs375418655		TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chrX:53115408G>T	ENST00000375442.4	+	6	1966	c.1834G>T	c.(1834-1836)Gac>Tac	p.D612Y		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	612	Asp-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)	p.D612Y(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGTTATTGAAGACTTTGACAA	0.468													G|||	2	0.000529801	0.0015	0.0	3775	,	,		17954	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											154	110	125					X																	53115408		2203	4300	6503	SO:0001583	missense	64061			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1834G>T	X.37:g.53115408G>T	ENSP00000364591:p.Asp612Tyr		O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	ENST00000375442.4	37	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365541	0.41902	.	.	ENSG00000184205	ENST00000375442	T	0.22945	1.93	2.76	1.87	0.25490	.	2.138670	0.03568	U	0.228135	T	0.19725	0.0474	N	0.19112	0.55	0.09310	N	1	P;P	0.43701	0.815;0.718	B;B	0.40534	0.332;0.178	T	0.24512	-1.0158	10	0.72032	D	0.01	-13.7803	6.8446	0.23980	0.0:0.2852:0.7148:0.0	.	252;612	Q59GC7;Q9H2G4	.;TSYL2_HUMAN	Y	612	ENSP00000364591:D612Y	ENSP00000364591:D612Y	D	+	1	0	TSPYL2	53132133	0.053000	0.20554	0.006000	0.13384	0.365000	0.29674	0.260000	0.18424	0.563000	0.29222	0.287000	0.19450	GAC		0.468	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		T	53115408	G	T	53115408	3	4	544	1	0	0	0	0	1	0	0	0	16665	942	33	4	1856	4	TSPYL2	23	53115408	Missense_Mutation	SNP	G	TCGA-CJ-5679-01A-11D-1534-10	15179583	53115408	102155152	95	29357											
XPNPEP2	7512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	128886138	128886138	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chrX:128886138C>A	ENST00000371106.3	+	10	1026	c.834C>A	c.(832-834)aaC>aaA	p.N278K		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	278						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.N278K(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGTTTGCAAACAAGAGTCGCT	0.527																																																1	Substitution - Missense(1)	kidney(1)											98	90	92					X																	128886138		2203	4299	6502	SO:0001583	missense	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.834C>A	X.37:g.128886138C>A	ENSP00000360147:p.Asn278Lys		A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964858	0.53507	.	.	ENSG00000122121	ENST00000371106	T	0.73897	-0.79	5.78	3.78	0.43462	.	0.086790	0.85682	D	0.000000	T	0.77370	0.4120	M	0.79805	2.47	0.41776	D	0.989797	D	0.54964	0.969	P	0.51229	0.663	T	0.78257	-0.2274	10	0.72032	D	0.01	-14.3392	4.4638	0.11678	0.0:0.5345:0.0:0.4655	.	278	O43895	XPP2_HUMAN	K	278	ENSP00000360147:N278K	ENSP00000360147:N278K	N	+	3	2	XPNPEP2	128713819	0.534000	0.26362	0.995000	0.50966	0.461000	0.32589	0.299000	0.19138	1.211000	0.43351	0.529000	0.55759	AAC		0.527	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		A	128886138	C	A	128886138	3	1	544	1	0	0	0	0	1	0	0	0	17448	477	17	4	872	4	XPNPEP2	23	128886138	Missense_Mutation	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	75770730	128886138	26384422	96	29358											
CD40LG	959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135730560	135730560	+	Silent	SNP	C	C	T			TCGA-CJ-5679-01A-11D-1534-10	TCGA-CJ-5679-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84120a7c-4be0-4025-a95a-f78bfb58d28f	4c1ae2ec-1dbf-4c5a-88f2-9995df35736e	g.chrX:135730560C>T	ENST00000370629.2	+	1	209	c.153C>T	c.(151-153)gaC>gaT	p.D51D	CD40LG_ENST00000370628.2_Silent_p.D51D	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	51					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.D51D(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GAAGGTTGGACAAGGTAAGAT	0.358									Immune Deficiency with Hyper-IgM																																							1	Substitution - coding silent(1)	kidney(1)											133	125	128					X																	135730560		2203	4300	6503	SO:0001819	synonymous_variant	959	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11935	protein-coding gene	gene with protein product	"CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome"	300386	"tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.153C>T	X.37:g.135730560C>T				Silent	SNP	ENST00000370629.2	37	CCDS14659.1																																																																																				0.358	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		T	135730560	C	T	135730560	2	4	544	1	0	0	0	0	0	0	0	1	3018	477	17	2		2	CD40LG	23	135730560	Silent	SNP	C	TCGA-CJ-5679-01A-11D-1534-10	6844422	135730560	19540000	97	29359											
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	C	rs5030807		TCGA-CJ-5679-01A-11W-1584-10	TCGA-CJ-5679-11A-01W-1585-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	de904324-2c23-4a2c-b5bf-56e2e6f616ef	20ed414c-6f1f-4d6a-a731-e28d3d45efc3	g.chr3:10183797T>C	ENST00000256474.2	+	1	1106	c.266T>C	c.(265-267)cTc>cCc	p.L89P	VHL_ENST00000345392.2_Missense_Mutation_p.L89P|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13	16	15					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>C	3.37:g.10183797T>C	ENSP00000256474:p.Leu89Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777209	0.90195	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99563	0.9843	L	0.41492	1.28	0.54753	D	0.999989	D;D	0.76494	0.998;0.999	D;D	0.71656	0.962;0.974	D	0.97591	1.0117	10	0.72032	D	0.01	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	rs5030807	89;89	P40337-2;P40337	.;VHL_HUMAN	P	89	ENSP00000256474:L89P;ENSP00000344757:L89P	ENSP00000256474:L89P	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10183797	T	C	10183797	3	2	545	1	0	0	0	0	1	0	0	0	17167	1551	54	3	268	3	VHL	3	10183797	Missense_Mutation	SNP	T	TCGA-CJ-5679-01A-11W-1584-10		10183797	187838633	1	29360											
FAM54B	56181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26152903	26152903	+	Splice_Site	SNP	G	G	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr1:26152903G>T	ENST00000374301.3	+	4	547		c.e4+1		MTFR1L_ENST00000526894.1_Splice_Site|MTFR1L_ENST00000474295.1_Splice_Site|MTFR1L_ENST00000469815.1_Intron|MTFR1L_ENST00000374307.5_Splice_Site|MTFR1L_ENST00000374303.2_Splice_Site|MTFR1L_ENST00000466284.1_Splice_Site|MTFR1L_ENST00000524618.1_Splice_Site|MTFR1L_ENST00000374300.3_Splice_Site	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like									p.?(1)									CCCGGGTCAGGTAGTTGAGGC	0.552																																																1	Unknown(1)	kidney(1)											59	60	60					1																	26152903		2173	4278	6451	SO:0001630	splice_region_variant	0				CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"family with sequence similarity 54, member B"	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.239+1G>T	1.37:g.26152903G>T			A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Splice_Site	SNP	ENST00000374301.3	37	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453678	0.84209	.	.	ENSG00000117640	ENST00000424294;ENST00000374303;ENST00000529116;ENST00000474295;ENST00000526894;ENST00000374307;ENST00000525713;ENST00000374301;ENST00000526158;ENST00000374300;ENST00000466284	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5799	0.91167	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM54B	26025490	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.717000	0.91425	2.629000	0.89072	0.655000	0.94253	.		0.552	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557	Intron	T	26152903	G	T	26152903	5	4	546	1	0	0	0	0	0	0	1	0	5585	1275	44	4	250	4	FAM54B	1	26152903	Splice_Site	SNP	G	TCGA-CJ-5680-01A-11D-1534-10		26152903	223097718	1	29361											
MCOLN3	55283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	85511028	85511028	+	Missense_Mutation	SNP	C	C	A	rs568979444		TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr1:85511028C>A	ENST00000370589.2	-	2	68	c.16G>T	c.(16-18)Gta>Tta	p.V6L	MCOLN3_ENST00000370587.1_Missense_Mutation_p.V6L|MCOLN3_ENST00000341115.4_Missense_Mutation_p.V6L|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	6					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V6L(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTCACAACTACCTCAGGATCT	0.393																																																1	Substitution - Missense(1)	kidney(1)											39	38	38					1																	85511028		2203	4300	6503	SO:0001583	missense	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.16G>T	1.37:g.85511028C>A	ENSP00000359621:p.Val6Leu		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	5.376	0.254604	0.10185	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	D;D;D	0.85629	-1.71;-1.61;-2.01	5.55	1.6	0.23607	.	0.843268	0.10701	N	0.643993	T	0.54127	0.1839	N	0.22421	0.69	0.25801	N	0.9845	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.41805	-0.9488	10	0.27785	T	0.31	0.1021	6.4691	0.21997	0.0:0.6161:0.1173:0.2666	.	6;6;6	B1ANB7;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	L	6	ENSP00000359621:V6L;ENSP00000342698:V6L;ENSP00000359619:V6L	ENSP00000304843:V6L	V	-	1	0	MCOLN3	85283616	0.035000	0.19736	0.150000	0.22450	0.035000	0.12851	-0.186000	0.09670	0.317000	0.23160	-0.424000	0.05967	GTA		0.393	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		A	85511028	C	A	85511028	3	1	546	1	0	0	0	0	1	0	0	0	9399	507	18	4	1693	4	MCOLN3	1	85511028	Missense_Mutation	SNP	C	TCGA-CJ-5680-01A-11D-1534-10	59358125	85511028	163739593	2	29362											
RFX5	5993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151315361	151315361	+	Silent	SNP	G	G	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr1:151315361G>T	ENST00000290524.4	-	11	1330	c.1152C>A	c.(1150-1152)atC>atA	p.I384I	RFX5_ENST00000478564.1_5'Flank|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Silent_p.I384I|RFX5_ENST00000368870.2_Silent_p.I384I|RFX5_ENST00000452513.2_Silent_p.I344I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	384					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I384I(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTTGGTAAGATCATGTTAA	0.612																																																1	Substitution - coding silent(1)	kidney(1)											84	93	90					1																	151315361		2203	4300	6503	SO:0001819	synonymous_variant	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1152C>A	1.37:g.151315361G>T			B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	ENST00000290524.4	37	CCDS994.1																																																																																				0.612	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		T	151315361	G	T	151315361	2	4	546	1	0	0	0	0	0	0	0	1	13272	932	33	4		4	RFX5	1	151315361	Silent	SNP	G	TCGA-CJ-5680-01A-11D-1534-10	65804333	151315361	97935260	3	29363											
SHC1	6464	broad.mit.edu	37	1	154938670	154938670	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr1:154938670C>T	ENST00000368445.5	-	9	1434	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	SHC1_ENST00000368453.4_Missense_Mutation_p.R297H|SHC1_ENST00000368449.4_Missense_Mutation_p.R178H|SHC1_ENST00000448116.2_Missense_Mutation_p.R407H|SHC1_ENST00000368450.1_Missense_Mutation_p.R297H|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000606391.1_Missense_Mutation_p.R208H|SHC1_ENST00000490667.1_5'Flank	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	407	CH1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R297H(1)|p.R407H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CATCTGTTTGCGGACTTCTGG	0.582																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)											2	Substitution - Missense(2)	kidney(2)											64	62	62					1																	154938670		2203	4300	6503	SO:0001583	missense	6464			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1220G>A	1.37:g.154938670C>T	ENSP00000357430:p.Arg407His		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	8.733	0.917098	0.17907	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000368441;ENST00000414115	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	4.68	3.77	0.43336	.	0.289069	0.32918	N	0.005488	T	0.24547	0.0595	L	0.35723	1.085	0.41182	D	0.986241	B;P;P	0.46457	0.191;0.878;0.874	B;P;B	0.44477	0.013;0.451;0.215	T	0.05533	-1.0879	10	0.48119	T	0.1	.	7.8281	0.29326	0.0:0.7441:0.0:0.2559	.	186;407;407	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	H	407;407;208;297;297;343;79;160	ENSP00000357430:R407H;ENSP00000401303:R407H;ENSP00000357434:R208H;ENSP00000357438:R297H;ENSP00000357435:R297H;ENSP00000404908:R160H	ENSP00000357426:R79H	R	-	2	0	SHC1	153205294	0.219000	0.23619	1.000000	0.80357	0.929000	0.56500	0.808000	0.27154	1.208000	0.43306	0.557000	0.71058	CGC		0.582	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		T	154938670	C	T	154938670	3	4	546	1	0	0	0	0	1	0	0	0	14276	768	27	1	550	1	SHC1	1	154938670	Missense_Mutation	SNP	C	TCGA-CJ-5680-01A-11D-1534-10	3623309	154938670	94311951	4	29364											
KIRREL	55243	broad.mit.edu	37	1	158059420	158059420	+	Splice_Site	SNP	T	T	G			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr1:158059420T>G	ENST00000359209.6	+	9	1238		c.e9+2		KIRREL_ENST00000416935.2_Splice_Site|KIRREL_ENST00000368173.3_Splice_Site|KIRREL_ENST00000392272.2_Splice_Site|KIRREL_ENST00000360089.4_Splice_Site|KIRREL_ENST00000368172.1_Splice_Site			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)						excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.?(3)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					ATGTGAACGGTGAGTGAGTGG	0.612																																																3	Unknown(3)	kidney(3)											62	66	64					1																	158059420		2203	4300	6503	SO:0001630	splice_region_variant	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1171+2T>G	1.37:g.158059420T>G			Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Splice_Site	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721185	0.68959	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4341	0.55590	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIRREL	156326044	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.450000	0.80656	2.034000	0.60081	0.377000	0.23210	.		0.612	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240	Intron	G	158059420	T	G	158059420	5	3	546	1	0	0	0	0	0	0	1	0	8326	1710	59	5	1207	5	KIRREL	1	158059420	Splice_Site	SNP	T	TCGA-CJ-5680-01A-11D-1534-10	3120750	158059420	91191201	5	29365											
PAPPA2	60676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	176640128	176640128	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr1:176640128C>A	ENST00000367662.3	+	4	3178	c.2014C>A	c.(2014-2016)Ctg>Atg	p.L672M	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L672M	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	672	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L672M(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGAAGGAGCTGAAGGAGGC	0.498																																																2	Substitution - Missense(2)	kidney(2)											175	174	174					1																	176640128		1993	4177	6170	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2014C>A	1.37:g.176640128C>A	ENSP00000356634:p.Leu672Met		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220833	0.79464	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.29917	4.7;1.55	5.52	4.61	0.57282	.	0.000000	0.64402	D	0.000001	T	0.33000	0.0848	N	0.05199	-0.095	0.46849	D	0.999226	D;D	0.89917	0.995;1.0	D;D	0.85130	0.951;0.997	T	0.34030	-0.9845	10	0.36615	T	0.2	-10.6837	13.7359	0.62817	0.0:0.925:0.0:0.075	.	672;672	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	M	672	ENSP00000356634:L672M;ENSP00000356633:L672M	ENSP00000356633:L672M	L	+	1	2	PAPPA2	174906751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.195000	0.51013	1.318000	0.45170	0.655000	0.94253	CTG		0.498	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			A	176640128	C	A	176640128	3	1	546	1	0	0	0	0	1	0	0	0	11435	796	28	4	2024	4	PAPPA2	1	176640128	Missense_Mutation	SNP	C	TCGA-CJ-5680-01A-11D-1534-10	18580708	176640128	72610493	6	29366											
SPATA17	128153	hgsc.bcm.edu;ucsc.edu	37	1	218036142	218036142	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr1:218036142T>G	ENST00000366933.4	+	10	1087	c.1032T>G	c.(1030-1032)ttT>ttG	p.F344L	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	344						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TACCATCATTTGAGCTCTTCT	0.279																																																0													115	130	125					1																	218036142		2203	4294	6497	SO:0001583	missense	128153			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.1032T>G	1.37:g.218036142T>G	ENSP00000355900:p.Phe344Leu		A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939154	0.34189	.	.	ENSG00000162814	ENST00000366933	T	0.40476	1.03	5.38	4.26	0.50523	.	0.105307	0.39475	N	0.001346	T	0.33411	0.0862	L	0.50919	1.6	0.31143	N	0.706437	B	0.10296	0.003	B	0.04013	0.001	T	0.31613	-0.9937	10	0.18710	T	0.47	-3.3805	9.0532	0.36389	0.0:0.0833:0.0:0.9167	.	344	Q96L03	SPT17_HUMAN	L	344	ENSP00000355900:F344L	ENSP00000355900:F344L	F	+	3	2	SPATA17	216102765	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	2.805000	0.47939	0.881000	0.35993	0.477000	0.44152	TTT		0.279	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		G	218036142	T	G	218036142	3	3	546	1	0	0	0	0	1	0	0	0	15007	1809	63	5	1070	5	SPATA17	1	218036142	Missense_Mutation	SNP	T	TCGA-CJ-5680-01A-11D-1534-10	41396014	218036142	31214479	7	29367											
RYR2	6262	hgsc.bcm.edu;ucsc.edu	37	1	237538046	237538046	+	Silent	SNP	T	T	C			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr1:237538046T>C	ENST00000366574.2	+	7	731	c.414T>C	c.(412-414)tcT>tcC	p.S138S	RYR2_ENST00000542537.1_Silent_p.S122S|RYR2_ENST00000360064.6_Silent_p.S136S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	138	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTCCCGGTCTTCAACTGATA	0.478																																																0													124	120	121					1																	237538046		1956	4140	6096	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.414T>C	1.37:g.237538046T>C			Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		C	237538046	T	C	237538046	2	2	546	1	0	0	0	0	0	0	0	1	13775	1596	56	3		3	RYR2	1	237538046	Silent	SNP	T	TCGA-CJ-5680-01A-11D-1534-10	19501904	237538046	11712575	8	29368											
ABCG8	64241	broad.mit.edu;hgsc.bcm.edu	37	2	44079623	44079623	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr2:44079623C>T	ENST00000272286.2	+	5	782	c.692C>T	c.(691-693)cCa>cTa	p.P231L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	231	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		P -> T (in STSL). {ECO:0000269|PubMed:11099417, ECO:0000269|PubMed:11452359}.		ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.P231L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGTGGAACCCAGGTGAGGGC	0.682																																																1	Substitution - Missense(1)	kidney(1)											32	38	36					2																	44079623		2203	4300	6503	SO:0001583	missense	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.692C>T	2.37:g.44079623C>T	ENSP00000272286:p.Pro231Leu		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701785	0.88924	.	.	ENSG00000143921	ENST00000272286	T	0.56444	0.46	5.3	5.3	0.74995	ABC transporter-like (2);	0.048644	0.85682	D	0.000000	D	0.82444	0.5038	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88628	0.3167	10	0.87932	D	0	.	17.9474	0.89043	0.0:1.0:0.0:0.0	.	231;231	Q9H221-2;Q9H221	.;ABCG8_HUMAN	L	231	ENSP00000272286:P231L	ENSP00000272286:P231L	P	+	2	0	ABCG8	43933127	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.538000	0.67193	2.474000	0.83562	0.561000	0.74099	CCA		0.682	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		T	44079623	C	T	44079623	3	4	546	1	0	0	0	0	1	0	0	0	72	594	21	2	710	2	ABCG8	2	44079623	Missense_Mutation	SNP	C	TCGA-CJ-5680-01A-11D-1534-10		44079623	199119750	9	29369											
ITPRIPL1	150771	broad.mit.edu;ucsc.edu	37	2	96993737	96993737	+	Silent	SNP	C	C	G			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr2:96993737C>G	ENST00000439118.2	+	3	1619	c.1368C>G	c.(1366-1368)ctC>ctG	p.L456L	ITPRIPL1_ENST00000542887.1_Silent_p.L448L|ITPRIPL1_ENST00000536814.1_Silent_p.L448L|ITPRIPL1_ENST00000361124.4_Silent_p.L464L	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	456						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L464L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCATGCACCTCTTGCTACGGC	0.562																																																1	Substitution - coding silent(1)	kidney(1)											98	96	97					2																	96993737		2203	4300	6503	SO:0001819	synonymous_variant	150771				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"KIAA1754-like", "inositol 1,4,5-triphosphate receptor interacting protein-like 1"	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1368C>G	2.37:g.96993737C>G			F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	C	1.626	-0.520129	0.04171	.	.	ENSG00000198885	ENST00000420728	.	.	.	5.5	3.64	0.41730	.	.	.	.	.	T	0.59101	0.2169	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56733	-0.7930	4	.	.	.	-9.5761	9.2001	0.37254	0.0:0.4036:0.4633:0.1331	.	.	.	.	C	488	.	.	S	+	2	0	ITPRIPL1	96357464	0.732000	0.28121	0.989000	0.46669	0.715000	0.41141	0.587000	0.23909	1.555000	0.49500	-0.165000	0.13383	TCT		0.562	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		G	96993737	C	G	96993737	2	3	546	1	0	0	0	0	0	0	0	1	7926	900	32	4		4	ITPRIPL1	2	96993737	Silent	SNP	C	TCGA-CJ-5680-01A-11D-1534-10	52914114	96993737	146205636	10	29370											
CCNT2	905	hgsc.bcm.edu;ucsc.edu	37	2	135712132	135712132	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr2:135712132T>C	ENST00000264157.5	+	9	2137	c.2107T>C	c.(2107-2109)Tac>Cac	p.Y703H	CCNT2_ENST00000295238.6_3'UTR|CCNT2_ENST00000537343.1_3'UTR	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	703					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CAATCACGAGTACAGTACAAG	0.488																																																0													95	83	87					2																	135712132		2203	4300	6503	SO:0001583	missense	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.2107T>C	2.37:g.135712132T>C	ENSP00000264157:p.Tyr703His		A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	CCDS2174.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.84|12.84	2.058891|2.058891	0.36277|0.36277	.|.	.|.	ENSG00000082258|ENSG00000082258	ENST00000452521|ENST00000264157	.|T	.|0.22945	.|1.93	5.43|5.43	4.24|4.24	0.50183|0.50183	.|.	.|0.747504	.|0.12685	.|N	.|0.447641	T|T	0.33556|0.33556	0.0867|0.0867	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|D	.|0.61080	.|0.989	.|P	.|0.53809	.|0.735	T|T	0.00953|0.00953	-1.1502|-1.1502	5|10	.|0.34782	.|T	.|0.22	.|.	11.5434|11.5434	0.50679|0.50679	0.1342:0.0:0.0:0.8658|0.1342:0.0:0.0:0.8658	.|.	.|703	.|O60583	.|CCNT2_HUMAN	A|H	121|703	.|ENSP00000264157:Y703H	.|ENSP00000264157:Y703H	V|Y	+|+	2|1	0|0	CCNT2|CCNT2	135428602|135428602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.569000|4.569000	0.60865|0.60865	0.851000|0.851000	0.35264|0.35264	0.533000|0.533000	0.62120|0.62120	GTA|TAC		0.488	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		C	135712132	T	C	135712132	3	2	546	1	0	0	0	0	1	0	0	0	2937	1638	57	3	2141	3	CCNT2	2	135712132	Missense_Mutation	SNP	T	TCGA-CJ-5680-01A-11D-1534-10	38718395	135712132	107487241	11	29371											
SLC39A10	57181	hgsc.bcm.edu;ucsc.edu	37	2	196548615	196548615	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr2:196548615A>G	ENST00000409086.3	+	3	1476	c.1201A>G	c.(1201-1203)Aat>Gat	p.N401D	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Missense_Mutation_p.N401D	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	401					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AGATGAGGCAAATATAGGGGC	0.303																																																0													54	58	56					2																	196548615		2203	4299	6502	SO:0001583	missense	57181				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1201A>G	2.37:g.196548615A>G	ENSP00000386766:p.Asn401Asp		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	A	7.459	0.644339	0.14451	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.63580	-0.05;-0.05	4.95	1.16	0.20824	.	0.932043	0.09208	N	0.833734	T	0.37320	0.0999	N	0.11064	0.09	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14671	-1.0464	10	0.13108	T	0.6	.	6.6939	0.23187	0.6316:0.2929:0.0755:0.0	.	401	Q9ULF5	S39AA_HUMAN	D	401	ENSP00000386766:N401D;ENSP00000352655:N401D	ENSP00000352655:N401D	N	+	1	0	SLC39A10	196256860	1.000000	0.71417	0.994000	0.49952	0.949000	0.60115	2.744000	0.47450	0.047000	0.15862	-0.263000	0.10527	AAT		0.303	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		G	196548615	A	G	196548615	3	3	546	1	0	0	0	0	1	0	0	0	14619	14	1	3	1207	3	SLC39A10	2	196548615	Missense_Mutation	SNP	A	TCGA-CJ-5680-01A-11D-1534-10	60836483	196548615	46650758	12	29372											
CPS1	1373	hgsc.bcm.edu;ucsc.edu	37	2	211521332	211521332	+	Silent	SNP	C	C	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr2:211521332C>A	ENST00000233072.5	+	30	3838	c.3642C>A	c.(3640-3642)acC>acA	p.T1214T	CPS1_ENST00000430249.2_Silent_p.T1220T|CPS1_ENST00000451903.2_Silent_p.T763T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1214	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCACACAAACCATCAGCCAAG	0.403																																																0													69	69	69					2																	211521332		2203	4300	6503	SO:0001819	synonymous_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3642C>A	2.37:g.211521332C>A			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																				0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			A	211521332	C	A	211521332	2	1	546	1	0	0	0	0	0	0	0	1	3825	581	21	4		4	CPS1	2	211521332	Silent	SNP	C	TCGA-CJ-5680-01A-11D-1534-10	14972717	211521332	31678041	13	29373											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191543	10191546	+	Frame_Shift_Del	DEL	ACAT	ACAT	-	rs377715747		TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	ACAT	ACAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr3:10191543_10191546delACAT	ENST00000256474.2	+	3	1376_1379	c.536_539delACAT	c.(535-540)gacatcfs	p.DI179fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.DI138fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	179					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I180N(4)|p.D179fs*>36(2)|p.D179_I180del(1)|p.D179fs*23(1)|p.L178_V181del(1)|p.D179A(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGGAGACTGGACATCGTCAGGTCG	0.52		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	10	Substitution - Missense(5)|Deletion - In frame(2)|Insertion - Frameshift(2)|Deletion - Frameshift(1)	kidney(9)|large_intestine(1)	GRCh37	CM941387	VHL	M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.536_539delACAT	3.37:g.10191543_10191546delACAT	ENSP00000256474:p.Asp179fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.52	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191546	ACAT	-	10191543	7	5	546	1	0	1	0	1	0	0	0	0	17167	275	10	0	546	0	VHL	3	10191543	Frame_Shift_Del	DEL	ACAT	TCGA-CJ-5680-01A-11D-1534-10		10191543	187830887	14	29374											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52442523	52442523	+	5'Flank	DEL	A	A	-			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr3:52442523delA	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Frame_Shift_Del_p.D75fs|BAP1_ENST00000460680.1_Frame_Shift_Del_p.D75fs|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.I72fs*7(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TCACAATATCATCATCAATCA	0.483																																																1	Deletion - Frameshift(1)	pleura(1)											66	55	59					3																	52442523		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442523delA	Exception_encountered		K4DI82	Frame_Shift_Del	DEL	ENST00000327906.3	37	CCDS2854.1																																																																																				0.483	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		-	52442523	A	-	52442523	6	5	546	0	1	1	0	1	0	0	0	0	1311	214	8	0		0	BAP1	3	52442523	5'Flank	DEL	A	TCGA-CJ-5680-01A-11D-1534-10	42250980	52442523	145579907	15	29375											
CEP97	79598	hgsc.bcm.edu;ucsc.edu	37	3	101476949	101476949	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr3:101476949G>A	ENST00000341893.3	+	9	2251	c.1499G>A	c.(1498-1500)aGt>aAt	p.S500N	CEP97_ENST00000494050.1_Missense_Mutation_p.S441N|CEP97_ENST00000327230.4_Missense_Mutation_p.S500N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	500	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATAACCACAGTCTTACATTT	0.358																																																0													112	118	116					3																	101476949		2203	4300	6503	SO:0001583	missense	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1499G>A	3.37:g.101476949G>A	ENSP00000342510:p.Ser500Asn		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	8.850	0.944259	0.18356	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.56103	0.62;0.58;0.48	4.85	0.626	0.17670	.	0.866657	0.10574	N	0.658817	T	0.33789	0.0875	L	0.32530	0.975	0.09310	N	1	B;B;B	0.15719	0.014;0.005;0.001	B;B;B	0.17979	0.02;0.007;0.003	T	0.22417	-1.0217	10	0.27082	T	0.32	-2.515	1.1628	0.01809	0.4022:0.1579:0.2951:0.1448	.	441;500;500	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	N	500;500;441	ENSP00000342510:S500N;ENSP00000325881:S500N;ENSP00000418185:S441N	ENSP00000325881:S500N	S	+	2	0	CEP97	102959639	0.000000	0.05858	0.334000	0.25495	0.709000	0.40893	-0.022000	0.12480	0.212000	0.20703	0.305000	0.20034	AGT		0.358	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		A	101476949	G	A	101476949	3	1	546	1	0	0	0	0	1	0	0	0	3265	1029	36	2	1533	2	CEP97	3	101476949	Missense_Mutation	SNP	G	TCGA-CJ-5680-01A-11D-1534-10	49034426	101476949	96545481	16	29376											
MME	4311	hgsc.bcm.edu;ucsc.edu	37	3	154858058	154858058	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr3:154858058T>C	ENST00000460393.1	+	10	1054	c.934T>C	c.(934-936)Ttt>Ctt	p.F312L	MME_ENST00000492661.1_Missense_Mutation_p.F312L|MME_ENST00000360490.2_Missense_Mutation_p.F312L|MME_ENST00000493237.1_Missense_Mutation_p.F312L|MME_ENST00000462745.1_Missense_Mutation_p.F312L	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	312					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CCAAAATAACTTTTCACTAGA	0.333																																																0													68	63	65					3																	154858058		2203	4299	6502	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.934T>C	3.37:g.154858058T>C	ENSP00000418525:p.Phe312Leu		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028334	0.35797	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.23	5.23	0.72850	Peptidase M13 (1);	0.117629	0.64402	D	0.000019	T	0.64789	0.2630	L	0.43757	1.38	0.49483	D	0.999799	B	0.21452	0.056	B	0.22880	0.042	T	0.61912	-0.6965	10	0.41790	T	0.15	-24.7486	15.4425	0.75195	0.0:0.0:0.0:1.0	.	312	P08473	NEP_HUMAN	L	312	ENSP00000420389:F312L;ENSP00000418525:F312L;ENSP00000419653:F312L;ENSP00000417079:F312L;ENSP00000353679:F312L	ENSP00000353679:F312L	F	+	1	0	MME	156340752	1.000000	0.71417	0.966000	0.40874	0.162000	0.22319	6.809000	0.75211	2.100000	0.63781	0.533000	0.62120	TTT		0.333	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		C	154858058	T	C	154858058	3	2	546	1	0	0	0	0	1	0	0	0	9647	1609	56	3	968	3	MME	3	154858058	Missense_Mutation	SNP	T	TCGA-CJ-5680-01A-11D-1534-10	53381109	154858058	43164372	17	29377											
CWC27	10283	hgsc.bcm.edu;ucsc.edu	37	5	64314067	64314067	+	Silent	SNP	C	C	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr5:64314067C>A	ENST00000381070.3	+	14	1555	c.1338C>A	c.(1336-1338)atC>atA	p.I446I	RP11-307L14.1_ENST00000607786.1_lincRNA|CWC27_ENST00000545000.1_3'UTR|RP11-307L14.2_ENST00000606057.1_lincRNA	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	446					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CATTTGAAATCTATGATCCTC	0.358																																																0													117	121	119					5																	64314067		2203	4300	6503	SO:0001819	synonymous_variant	10283			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 10"	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.1338C>A	5.37:g.64314067C>A			O60529|O60530|Q96EM3	Silent	SNP	ENST00000381070.3	37	CCDS3982.2																																																																																				0.358	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		A	64314067	C	A	64314067	2	1	546	1	0	0	0	0	0	0	0	1	4072	903	32	4		4	CWC27	5	64314067	Silent	SNP	C	TCGA-CJ-5680-01A-11D-1534-10		64314067	116601193	18	29378											
CSF1R	1436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149449521	149449521	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr5:149449521C>G	ENST00000286301.3	-	10	1716	c.1425G>C	c.(1423-1425)gaG>gaC	p.E475D	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	475	Ig-like C2-type 5.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.E475D(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GCTCTAAGGTCTCAACAGTCA	0.597																																																2	Substitution - Missense(2)	kidney(2)											121	114	117					5																	149449521		2203	4300	6503	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1425G>C	5.37:g.149449521C>G	ENSP00000286301:p.Glu475Asp		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	5.390	0.257183	0.10239	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.03272	3.99	5.66	1.32	0.21799	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.837839	0.10415	N	0.677481	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	B;B	0.28783	0.121;0.222	B;B	0.37346	0.247;0.223	T	0.50541	-0.8816	10	0.27082	T	0.32	.	4.4679	0.11698	0.0:0.5242:0.1875:0.2883	.	327;475	B4E2Y8;P07333	.;CSF1R_HUMAN	D	475;327	ENSP00000286301:E475D	ENSP00000286301:E475D	E	-	3	2	CSF1R	149429714	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.224000	0.17738	0.231000	0.21079	0.455000	0.32223	GAG		0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		G	149449521	C	G	149449521	3	3	546	1	0	0	0	0	1	0	0	0	3934	912	32	4	1545	4	CSF1R	5	149449521	Missense_Mutation	SNP	C	TCGA-CJ-5680-01A-11D-1534-10	85135454	149449521	31465739	19	29379											
RANBP17	64901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	170380686	170380686	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr5:170380686G>T	ENST00000523189.1	+	13	1718	c.1554G>T	c.(1552-1554)atG>atT	p.M518I		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	518					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.M518I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGATGCTATGGATGGAGAAT	0.333			T	TRD@	ALL																																		Dom	yes		5	5q34	64901	RAN binding protein 17		L	1	Substitution - Missense(1)	kidney(1)											145	140	142					5																	170380686		2203	4300	6503	SO:0001583	missense	64901			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1554G>T	5.37:g.170380686G>T	ENSP00000427975:p.Met518Ile		Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789154	0.49997	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.64260	-0.09	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	L	0.34521	1.04	0.58432	D	0.99999	B	0.16396	0.017	B	0.16722	0.016	T	0.48234	-0.9053	10	0.11794	T	0.64	-18.7485	19.3271	0.94267	0.0:0.0:1.0:0.0	.	518	Q9H2T7	RBP17_HUMAN	I	518;414	ENSP00000427975:M518I	ENSP00000373770:M518I	M	+	3	0	RANBP17	170313291	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.066000	0.89486	2.680000	0.91292	0.467000	0.42956	ATG		0.333	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		T	170380686	G	T	170380686	3	4	546	1	0	0	0	0	1	0	0	0	13033	1348	47	4	1604	4	RANBP17	5	170380686	Missense_Mutation	SNP	G	TCGA-CJ-5680-01A-11D-1534-10	20931165	170380686	10534574	20	29380											
NPY	4852	broad.mit.edu;ucsc.edu	37	7	24324865	24324865	+	Silent	SNP	A	A	G			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr7:24324865A>G	ENST00000407573.1	+	3	296	c.6A>G	c.(4-6)ctA>ctG	p.L2L	NPY_ENST00000405982.1_Silent_p.L2L|NPY_ENST00000242152.2_Silent_p.L2L			P01303	NPY_HUMAN	neuropeptide Y	2					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.L2L(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TGCAGATGCTAGGTAACAAGC	0.677																																																1	Substitution - coding silent(1)	kidney(1)											91	81	84					7																	24324865		2203	4300	6503	SO:0001819	synonymous_variant	4852			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"Endogenous ligands"	7955	protein-coding gene	gene with protein product	"prepro-neuropeptide Y"	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.6A>G	7.37:g.24324865A>G				Silent	SNP	ENST00000407573.1	37	CCDS5387.1																																																																																				0.677	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		G	24324865	A	G	24324865	2	3	546	1	0	0	0	0	0	0	0	1	10609	407	15	3		3	NPY	7	24324865	Silent	SNP	A	TCGA-CJ-5680-01A-11D-1534-10		24324865	134813798	21	29381											
C7orf10	79783	hgsc.bcm.edu	37	7	40535918	40535918	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr7:40535918delT	ENST00000335693.4	+	12	1066	c.1043delT	c.(1042-1044)cttfs	p.L348fs	C7orf10_ENST00000401647.2_Frame_Shift_Del_p.L300fs|C7orf10_ENST00000309930.5_Frame_Shift_Del_p.L348fs	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		348					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TGGTTATATCTTTTTGAAGGC	0.383																																																0													106	100	102					7																	40535918		1858	4104	5962	SO:0001589	frameshift_variant	79783																														ENST00000335693.4:c.1043delT	7.37:g.40535918delT	ENSP00000338475:p.Leu348fs		A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Frame_Shift_Del	DEL	ENST00000335693.4	37	CCDS55105.1																																																																																				0.383	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			-	40535918	T	-	40535918	7	5	546	1	0	1	0	1	0	0	0	0	2378	1609	56	0	978	0	C7orf10	7	40535918	Frame_Shift_Del	DEL	T	TCGA-CJ-5680-01A-11D-1534-10	16211053	40535918	118602745	22	29382											
GIMAP2	26157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150389838	150389838	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr7:150389838C>A	ENST00000223293.5	+	3	558	c.464C>A	c.(463-465)tCc>tAc	p.S155Y		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	155	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)	p.S155Y(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATGGTGGCTCCCTGATGGAT	0.522																																																1	Substitution - Missense(1)	kidney(1)											81	58	65					7																	150389838		2203	4300	6503	SO:0001583	missense	26157			AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"GTPases, IMAP"	21789	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 12"	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.464C>A	7.37:g.150389838C>A	ENSP00000223293:p.Ser155Tyr		Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.627006	0.46840	.	.	ENSG00000106560	ENST00000223293	T	0.62364	0.03	3.9	1.9	0.25705	AIG1 (1);	0.151617	0.42821	D	0.000646	T	0.80008	0.4545	H	0.94620	3.56	0.09310	N	0.999993	D	0.76494	0.999	D	0.75484	0.986	T	0.67898	-0.5551	10	0.87932	D	0	.	4.8632	0.13594	0.0:0.658:0.22:0.122	.	155	Q9UG22	GIMA2_HUMAN	Y	155	ENSP00000223293:S155Y	ENSP00000223293:S155Y	S	+	2	0	GIMAP2	150020771	0.001000	0.12720	0.018000	0.16275	0.169000	0.22640	1.383000	0.34385	1.006000	0.39211	0.609000	0.83330	TCC		0.522	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		A	150389838	C	A	150389838	3	1	546	1	0	0	0	0	1	0	0	0	6382	855	30	4	470	4	GIMAP2	7	150389838	Missense_Mutation	SNP	C	TCGA-CJ-5680-01A-11D-1534-10	109853920	150389838	8748825	23	29383											
MTSS1	9788	broad.mit.edu;ucsc.edu	37	8	125568483	125568483	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr8:125568483G>A	ENST00000518547.1	-	12	1867	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	MTSS1_ENST00000378017.3_Missense_Mutation_p.A440V|MTSS1_ENST00000524090.1_Missense_Mutation_p.A355V|MTSS1_ENST00000325064.5_Missense_Mutation_p.A469V|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.A183V|MTSS1_ENST00000431961.2_Missense_Mutation_p.A183V|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.A239V	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	465					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.A465V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTGGTGGCAGCCGATACAGT	0.647																																					Esophageal Squamous(160;622 1893 3862 8546 12509)											1	Substitution - Missense(1)	kidney(1)											79	66	71					8																	125568483		2203	4300	6503	SO:0001583	missense	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1394C>T	8.37:g.125568483G>A	ENSP00000429064:p.Ala465Val		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	G	6.881	0.531932	0.13127	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090	T;T;T;T;T;T;T	0.31769	1.48;1.51;1.53;1.51;1.51;1.53;1.5	4.65	4.65	0.58169	.	0.372036	0.28504	N	0.015110	T	0.25827	0.0629	L	0.29908	0.895	0.37148	D	0.902019	P;B;B;B;B;B;P	0.46987	0.598;0.027;0.001;0.01;0.002;0.02;0.888	B;B;B;B;B;B;B	0.42062	0.19;0.009;0.003;0.004;0.004;0.019;0.374	T	0.13361	-1.0512	10	0.24483	T	0.36	-14.3631	17.5388	0.87841	0.0:0.0:1.0:0.0	.	355;239;440;465;440;183;5	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2;Q6ZTG0	.;.;.;MTSS1_HUMAN;.;.;.	V	440;465;183;239;469;183;355	ENSP00000367256:A440V;ENSP00000429064:A465V;ENSP00000346119:A183V;ENSP00000378884:A239V;ENSP00000322804:A469V;ENSP00000393606:A183V;ENSP00000428319:A355V	ENSP00000322804:A469V	A	-	2	0	MTSS1	125637664	0.999000	0.42202	0.920000	0.36463	0.976000	0.68499	5.740000	0.68629	2.133000	0.65898	0.455000	0.32223	GCT		0.647	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		A	125568483	G	A	125568483	3	1	546	1	0	0	0	0	1	0	0	0	9964	971	34	2	885	2	MTSS1	8	125568483	Missense_Mutation	SNP	G	TCGA-CJ-5680-01A-11D-1534-10		125568483	20795539	24	29384											
CBWD3	445571	broad.mit.edu	37	9	70871861	70871861	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr9:70871861T>G	ENST00000360171.6	+	5	1006	c.455T>G	c.(454-456)gTt>gGt	p.V152G	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	152							ATP binding (GO:0005524)	p.V152G(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		ATGTTTTGGGTTGATGCTGAA	0.254																																																1	Substitution - Missense(1)	kidney(1)											25	31	29					9																	70871861		2189	4257	6446	SO:0001583	missense	445571			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.455T>G	9.37:g.70871861T>G	ENSP00000353295:p.Val152Gly		B4DNG9|Q6VB91	Missense_Mutation	SNP	ENST00000360171.6	37	CCDS35038.1	.	.	.	.	.	.	.	.	.	.	.	16.92	3.254210	0.59212	.	.	ENSG00000196873	ENST00000360171;ENST00000447896;ENST00000455061;ENST00000455820;ENST00000377344	T	0.42131	0.98	3.38	3.38	0.38709	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.062819	0.64402	D	0.000006	T	0.47948	0.1473	L	0.41356	1.27	0.80722	D	1	P;B	0.38767	0.646;0.075	P;B	0.52823	0.71;0.189	T	0.51317	-0.8721	10	0.87932	D	0	-14.4918	11.0695	0.47995	0.0:0.0:0.0:1.0	.	152;152	E7ETY5;Q5JTY5	.;CBWD3_HUMAN	G	152;152;152;152;116	ENSP00000353295:V152G	ENSP00000353295:V152G	V	+	2	0	CBWD3	70061681	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.201000	0.77847	1.311000	0.45024	0.254000	0.18369	GTT		0.254	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		G	70871861	T	G	70871861	3	3	546	1	0	0	0	0	1	0	0	0	2716	1725	60	5	1721	5	CBWD3	9	70871861	Missense_Mutation	SNP	T	TCGA-CJ-5680-01A-11D-1534-10		70871861	70341570	25	29385											
WDR5	11091	hgsc.bcm.edu;ucsc.edu	37	9	137006663	137006663	+	Silent	SNP	G	G	A	rs142853576		TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr9:137006663G>A	ENST00000358625.3	+	4	393	c.222G>A	c.(220-222)gcG>gcA	p.A74A	WDR5_ENST00000425041.1_Silent_p.A74A	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	74					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		TTTGGGGCGCGTATGATGGGA	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17560	0.0		0.0	False		,,,				2504	0.0															0								G	,	0,4406		0,0,2203	132	124	127		222,222	-9.2	0.8	9	dbSNP_134	127	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	WDR5	NM_017588.2,NM_052821.3	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	74/335,74/335	137006663	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	11091			AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"WD repeat domain containing"	12757	protein-coding gene	gene with protein product	"SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)", "cilia and flagella associated protein 89"	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.222G>A	9.37:g.137006663G>A			Q91VA5|Q9NWX7|Q9UGP9	Silent	SNP	ENST00000358625.3	37	CCDS6981.1																																																																																				0.438	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		A	137006663	G	A	137006663	2	1	546	1	0	0	0	0	0	0	0	1	17308	1132	40	1		1	WDR5	9	137006663	Silent	SNP	G	TCGA-CJ-5680-01A-11D-1534-10	66134802	137006663	4206768	26	29386											
SUPV3L1	6832	broad.mit.edu;ucsc.edu	37	10	70954975	70954975	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr10:70954975G>A	ENST00000359655.4	+	7	945	c.885G>A	c.(883-885)atG>atA	p.M295I		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	295	Helicase ATP-binding.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.M295I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAATTCAAATGATTAGAGATC	0.383																																																1	Substitution - Missense(1)	kidney(1)											84	86	85					10																	70954975		2203	4300	6503	SO:0001583	missense	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.885G>A	10.37:g.70954975G>A	ENSP00000352678:p.Met295Ile		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709832	0.96821	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.39787	1.06;1.29	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.68604	0.3019	M	0.88310	2.945	0.80722	D	1	P	0.51537	0.946	P	0.57620	0.824	T	0.73662	-0.3912	10	0.72032	D	0.01	-19.5863	20.1142	0.97922	0.0:0.0:1.0:0.0	.	295	Q8IYB8	SUV3_HUMAN	I	295;101	ENSP00000352678:M295I;ENSP00000409072:M101I	ENSP00000352678:M295I	M	+	3	0	SUPV3L1	70624981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.856000	0.99531	2.765000	0.95021	0.650000	0.86243	ATG		0.383	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		A	70954975	G	A	70954975	3	1	546	1	0	0	0	0	1	0	0	0	15407	1290	45	2	911	2	SUPV3L1	10	70954975	Missense_Mutation	SNP	G	TCGA-CJ-5680-01A-11D-1534-10		70954975	64579772	27	29387											
KIF20B	9585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	91497461	91497461	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr10:91497461C>A	ENST00000371728.3	+	20	2928	c.2863C>A	c.(2863-2865)Caa>Aaa	p.Q955K	KIF20B_ENST00000394289.2_Missense_Mutation_p.Q955K|KIF20B_ENST00000416354.1_Missense_Mutation_p.Q985K|KIF20B_ENST00000260753.4_Missense_Mutation_p.Q915K|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	955					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.Q915K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAGTAAAAATCAAGAACAGGA	0.284																																																1	Substitution - Missense(1)	kidney(1)											53	57	56					10																	91497461		2181	4285	6466	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2863C>A	10.37:g.91497461C>A	ENSP00000360793:p.Gln955Lys		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	C	4.140	0.024243	0.08006	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.66280	-0.12;-0.13;-0.2;-0.14	5.8	3.84	0.44239	.	0.125717	0.36555	N	0.002522	T	0.47469	0.1447	L	0.51422	1.61	0.24797	N	0.992724	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.21484	-1.0244	10	0.15952	T	0.53	-6.6583	4.0994	0.10007	0.3521:0.4485:0.1228:0.0766	.	955;915	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	915;985;955;955	ENSP00000260753:Q915K;ENSP00000411545:Q985K;ENSP00000377830:Q955K;ENSP00000360793:Q955K	ENSP00000260753:Q915K	Q	+	1	0	KIF20B	91487441	0.994000	0.37717	1.000000	0.80357	0.385000	0.30292	0.389000	0.20751	1.448000	0.47680	-0.230000	0.12252	CAA		0.284	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		A	91497461	C	A	91497461	3	1	546	1	0	0	0	0	1	0	0	0	8289	827	29	4	2817	4	KIF20B	10	91497461	Missense_Mutation	SNP	C	TCGA-CJ-5680-01A-11D-1534-10	20542486	91497461	44037286	28	29388											
PAX6	5080	broad.mit.edu;hgsc.bcm.edu	37	11	31816305	31816305	+	Silent	SNP	C	C	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr11:31816305C>T	ENST00000379132.3	-	7	835	c.555G>A	c.(553-555)gaG>gaA	p.E185E	PAX6_ENST00000379115.4_Silent_p.E199E|PAX6_ENST00000419022.1_Silent_p.E199E|PAX6_ENST00000379111.2_Silent_p.E185E|PAX6_ENST00000379107.2_Silent_p.E199E|PAX6_ENST00000241001.8_Silent_p.E185E|PAX6_ENST00000379129.2_Silent_p.E199E|PAX6_ENST00000379123.5_Silent_p.E185E			P26367	PAX6_HUMAN	paired box 6	185	Gln/Gly-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.E199E(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					AGTTGGTATTCTCTCCCCCTC	0.473									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																																							1	Substitution - coding silent(1)	kidney(1)											109	99	102					11																	31816305		2202	4299	6501	SO:0001819	synonymous_variant	5080	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.555G>A	11.37:g.31816305C>T			Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	CCDS31451.1																																																																																				0.473	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		T	31816305	C	T	31816305	2	4	546	1	0	0	0	0	0	0	0	1	11485	912	32	2		2	PAX6	11	31816305	Silent	SNP	C	TCGA-CJ-5680-01A-11D-1534-10		31816305	103190211	29	29389											
OR4C6	219432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55433031	55433031	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr11:55433031A>G	ENST00000314259.3	+	1	418	c.389A>G	c.(388-390)tAc>tGc	p.Y130C		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y130C(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCCCTGCACTACACGATCATC	0.522																																																1	Substitution - Missense(1)	kidney(1)											106	98	101					11																	55433031		2200	4296	6496	SO:0001583	missense	219432			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.389A>G	11.37:g.55433031A>G	ENSP00000324769:p.Tyr130Cys		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880633	0.72294	.	.	ENSG00000181903	ENST00000314259	T	0.33865	1.39	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	N	0.003522	T	0.69196	0.3084	H	0.96142	3.775	0.35561	D	0.804696	D	0.89917	1.0	D	0.79108	0.992	T	0.82957	-0.0199	10	0.87932	D	0	.	11.4632	0.50223	1.0:0.0:0.0:0.0	.	130	Q8NH72	OR4C6_HUMAN	C	130	ENSP00000324769:Y130C	ENSP00000324769:Y130C	Y	+	2	0	OR4C6	55189607	1.000000	0.71417	0.887000	0.34795	0.901000	0.52897	7.559000	0.82265	1.383000	0.46405	0.438000	0.28831	TAC		0.522	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		G	55433031	A	G	55433031	3	3	546	1	0	0	0	0	1	0	0	0	11054	391	14	3	391	3	OR4C6	11	55433031	Missense_Mutation	SNP	A	TCGA-CJ-5680-01A-11D-1534-10	23616726	55433031	79573485	30	29390											
MPEG1	219972	hgsc.bcm.edu;ucsc.edu	37	11	58978851	58978851	+	Silent	SNP	T	T	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr11:58978851T>A	ENST00000361050.3	-	1	1573	c.1488A>T	c.(1486-1488)tcA>tcT	p.S496S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	496						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CGGCTGGGCATGACTGTGCAT	0.512																																																0													72	70	70					11																	58978851		1872	4113	5985	SO:0001819	synonymous_variant	219972			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1488A>T	11.37:g.58978851T>A			Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	CCDS41650.1																																																																																				0.512	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		A	58978851	T	A	58978851	2	1	546	1	0	0	0	0	0	0	0	1	9725	1451	51	5		5	MPEG1	11	58978851	Silent	SNP	T	TCGA-CJ-5680-01A-11D-1534-10	3545820	58978851	76027665	31	29391											
ODZ4	26011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	78516425	78516425	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr11:78516425T>G	ENST00000278550.7	-	15	2553	c.2091A>C	c.(2089-2091)ttA>ttC	p.L697F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	697	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.L697F(2)									AACACTGGTCTAAGCATGTGG	0.612																																																2	Substitution - Missense(2)	kidney(2)											51	58	56					11																	78516425		2109	4222	6331	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2091A>C	11.37:g.78516425T>G	ENSP00000278550:p.Leu697Phe		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.09|10.09	1.254086|1.254086	0.22965|0.22965	.|.	.|.	ENSG00000149256|ENSG00000149256	ENST00000278550|ENST00000533525	T|.	0.03272|.	3.99|.	5.1|5.1	3.03|3.03	0.35002|0.35002	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.059200|.	0.64402|.	D|.	0.000003|.	T|.	0.42017|.	0.1184|.	N|N	0.21240|0.21240	0.645|0.645	0.44110|0.44110	D|D	0.996886|0.996886	P|.	0.35433|.	0.501|.	B|.	0.27500|.	0.08|.	T|.	0.11324|.	-1.0592|.	9|.	.|.	.|.	.|.	.|.	10.4748|10.4748	0.44659|0.44659	0.0:0.8109:0.0:0.1891|0.0:0.8109:0.0:0.1891	.|.	697|.	Q6N022|.	TEN4_HUMAN|.	F|S	697|11	ENSP00000278550:L697F|.	.|.	L|X	-|-	3|2	2|0	ODZ4|ODZ4	78194073|78194073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	1.993000|1.993000	0.40747|0.40747	0.580000|0.580000	0.29522|0.29522	-0.376000|-0.376000	0.06991|0.06991	TTA|TAG		0.612	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			G	78516425	T	G	78516425	3	3	546	1	0	0	0	0	1	0	0	0	10839	1519	53	5	6298	5	ODZ4	11	78516425	Missense_Mutation	SNP	T	TCGA-CJ-5680-01A-11D-1534-10	19537574	78516425	56490091	32	29392											
ERGIC2	51290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	29509405	29509405	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr12:29509405T>G	ENST00000360150.4	-	8	557	c.482A>C	c.(481-483)gAt>gCt	p.D161A		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	161					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)		p.D161A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					TGATGAATCATCTTCTCTGTT	0.308																																																1	Substitution - Missense(1)	kidney(1)											121	117	118					12																	29509405		1814	4086	5900	SO:0001583	missense	51290			AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.482A>C	12.37:g.29509405T>G	ENSP00000353270:p.Asp161Ala		A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.39|12.39	1.924750|1.924750	0.34002|0.34002	.|.	.|.	ENSG00000087502|ENSG00000087502	ENST00000360150;ENST00000201023;ENST00000546839;ENST00000550353;ENST00000552132|ENST00000551467	.|.	.|.	.|.	4.96|4.96	3.78|3.78	0.43462|0.43462	.|.	0.101889|.	0.64402|.	D|.	0.000003|.	T|T	0.62660|0.62660	0.2446|0.2446	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	P|.	0.40534|.	0.72|.	B|.	0.40636|.	0.335|.	T|T	0.59064|0.59064	-0.7524|-0.7524	9|5	0.10377|.	T|.	0.69|.	.|.	9.9219|9.9219	0.41470|0.41470	0.0:0.0:0.1718:0.8281|0.0:0.0:0.1718:0.8281	.|.	161|.	Q96RQ1|.	ERGI2_HUMAN|.	A|L	161;169;161;143;161|18	.|.	ENSP00000201023:D169A|.	D|M	-|-	2|1	0|0	ERGIC2|ERGIC2	29400672|29400672	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.937000|0.937000	0.57800|0.57800	5.444000|5.444000	0.66587|0.66587	0.710000|0.710000	0.31997|0.31997	0.477000|0.477000	0.44152|0.44152	GAT|ATG		0.308	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		G	29509405	T	G	29509405	3	3	546	1	0	0	0	0	1	0	0	0	5226	1435	50	5	679	5	ERGIC2	12	29509405	Missense_Mutation	SNP	T	TCGA-CJ-5680-01A-11D-1534-10		29509405	104342490	33	29393											
C12orf35	55196	broad.mit.edu;ucsc.edu	37	12	32138193	32138193	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr12:32138193C>T	ENST00000312561.4	+	4	4718	c.4304C>T	c.(4303-4305)gCg>gTg	p.A1435V	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1435								p.A1435V(1)									GACACGAAAGCGAGTTCATCT	0.353																																																1	Substitution - Missense(1)	kidney(1)											77	86	83					12																	32138193		2203	4300	6503	SO:0001583	missense	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4304C>T	12.37:g.32138193C>T	ENSP00000310338:p.Ala1435Val		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	11.51	1.658838	0.29515	.	.	ENSG00000174718	ENST00000312561	T	0.11495	2.77	4.85	-0.327	0.12694	.	1.477240	0.03982	N	0.293445	T	0.07458	0.0188	N	0.22421	0.69	0.09310	N	1	P	0.51791	0.948	B	0.40101	0.319	T	0.29027	-1.0025	9	.	.	.	.	5.2772	0.15657	0.4968:0.3305:0.1726:0.0	.	1435	Q9HCM1	CL035_HUMAN	V	1435	ENSP00000310338:A1435V	.	A	+	2	0	C12orf35	32029460	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	0.334000	0.19787	-0.242000	0.09667	0.557000	0.71058	GCG		0.353	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		T	32138193	C	T	32138193	3	4	546	1	0	0	0	0	1	0	0	0	1684	768	27	1	4306	1	C12orf35	12	32138193	Missense_Mutation	SNP	C	TCGA-CJ-5680-01A-11D-1534-10	2628788	32138193	101713702	34	29394											
PAN2	9924	broad.mit.edu;ucsc.edu	37	12	56720186	56720186	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr12:56720186G>C	ENST00000425394.2	-	8	1646	c.1270C>G	c.(1270-1272)Cca>Gca	p.P424A	PAN2_ENST00000440411.3_Missense_Mutation_p.P424A|PAN2_ENST00000257931.5_Missense_Mutation_p.P424A|PAN2_ENST00000548043.1_Missense_Mutation_p.P424A	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.P424A(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TCCACGGGTGGTGCTCGCCTA	0.527																																																1	Substitution - Missense(1)	kidney(1)											42	35	37					12																	56720186		2203	4299	6502	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1270C>G	12.37:g.56720186G>C	ENSP00000401721:p.Pro424Ala			Missense_Mutation	SNP	ENST00000425394.2	37	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	g	18.71	3.682030	0.68042	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.26373	1.75;1.75;1.74;1.75	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	L	0.50333	1.59	0.80722	D	1	P;P;P	0.40834	0.532;0.724;0.73	B;B;B	0.41135	0.263;0.348;0.282	T	0.05354	-1.0890	10	0.52906	T	0.07	-12.3528	17.7666	0.88480	0.0:0.0:1.0:0.0	.	424;424;424	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	A	424	ENSP00000401721:P424A;ENSP00000388231:P424A;ENSP00000257931:P424A;ENSP00000449861:P424A	ENSP00000257931:P424A	P	-	1	0	PAN2	55006453	1.000000	0.71417	0.974000	0.42286	0.964000	0.63967	9.608000	0.98331	2.562000	0.86427	0.580000	0.79431	CCA		0.527	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		C	56720186	G	C	56720186	3	2	546	1	0	0	0	0	1	0	0	0	11416	1261	44	4	2414	4	PAN2	12	56720186	Missense_Mutation	SNP	G	TCGA-CJ-5680-01A-11D-1534-10	24581993	56720186	77131709	35	29395											
LEMD3	23592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	65564430	65564430	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr12:65564430A>T	ENST00000308330.2	+	1	1080	c.1054A>T	c.(1054-1056)Agc>Tgc	p.S352C	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	352					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.S352C(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AGTGGACTCCAGCCCCGTTCC	0.607																																																1	Substitution - Missense(1)	kidney(1)											70	70	70					12																	65564430		2203	4300	6503	SO:0001583	missense	23592			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1054A>T	12.37:g.65564430A>T	ENSP00000308369:p.Ser352Cys		Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181867	0.57800	.	.	ENSG00000174106	ENST00000308330	T	0.53423	0.62	3.69	-0.0994	0.13624	.	0.514142	0.19448	N	0.114003	T	0.22360	0.0539	N	0.14661	0.345	0.26052	N	0.981466	B	0.06786	0.001	B	0.06405	0.002	T	0.11446	-1.0587	9	.	.	.	-2.2196	4.07	0.09877	0.6636:0.0:0.183:0.1534	.	352	Q9Y2U8	MAN1_HUMAN	C	352	ENSP00000308369:S352C	.	S	+	1	0	LEMD3	63850697	0.954000	0.32549	0.997000	0.53966	0.881000	0.50899	0.807000	0.27140	-0.026000	0.13895	0.379000	0.24179	AGC		0.607	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			T	65564430	A	T	65564430	3	4	546	1	0	0	0	0	1	0	0	0	8723	188	7	5	1056	5	LEMD3	12	65564430	Missense_Mutation	SNP	A	TCGA-CJ-5680-01A-11D-1534-10	8844244	65564430	68287465	36	29396											
RIMBP2	23504	broad.mit.edu;ucsc.edu	37	12	130926444	130926444	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr12:130926444C>T	ENST00000261655.4	-	8	1565	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	RIMBP2_ENST00000536002.1_Missense_Mutation_p.E376K|RIMBP2_ENST00000535703.1_Missense_Mutation_p.E376K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	468	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E468K(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCCTTTGCTCCAGCGGGAGC	0.587																																																1	Substitution - Missense(1)	kidney(1)											47	47	47					12																	130926444		2203	4300	6503	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1402G>A	12.37:g.130926444C>T	ENSP00000261655:p.Glu468Lys		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	c	26.1	4.709007	0.89018	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.45668	0.89;0.89;0.89	4.13	4.13	0.48395	Fibronectin, type III (1);	0.059676	0.64402	D	0.000003	T	0.63931	0.2553	M	0.73962	2.25	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.982;0.997	D;P;D	0.75020	0.985;0.894;0.98	T	0.68029	-0.5517	10	0.48119	T	0.1	-31.0974	16.3969	0.83610	0.0:1.0:0.0:0.0	.	376;376;468	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	K	468;376;376;376	ENSP00000261655:E468K;ENSP00000440347:E376K;ENSP00000439159:E376K	ENSP00000261655:E468K	E	-	1	0	RIMBP2	129492397	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.051000	0.71072	1.818000	0.53035	0.537000	0.68136	GAG		0.587	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		T	130926444	C	T	130926444	3	4	546	1	0	0	0	0	1	0	0	0	13369	864	30	2	1804	2	RIMBP2	12	130926444	Missense_Mutation	SNP	C	TCGA-CJ-5680-01A-11D-1534-10	65362014	130926444	2925451	37	29397											
ATP11A	23250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	113481084	113481084	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr13:113481084C>A	ENST00000487903.1	+	12	1188	c.1100C>A	c.(1099-1101)aCg>aAg	p.T367K	ATP11A_ENST00000375630.2_Missense_Mutation_p.T367K|ATP11A_ENST00000375645.3_Missense_Mutation_p.T367K|ATP11A_ENST00000283558.8_Missense_Mutation_p.T367K			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	367					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T367K(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATGTACGTCACGGTCGAGATG	0.547																																																2	Substitution - Missense(2)	kidney(2)											142	124	130					13																	113481084		2203	4300	6503	SO:0001583	missense	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1100C>A	13.37:g.113481084C>A	ENSP00000420387:p.Thr367Lys		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075916	0.76415	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	5.37	5.37	0.77165	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97225	0.9093	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.998;0.997	D	0.98435	1.0584	10	0.87932	D	0	.	19.1132	0.93326	0.0:1.0:0.0:0.0	.	367;367;367	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	K	367	ENSP00000420387:T367K;ENSP00000364781:T367K;ENSP00000364796:T367K;ENSP00000283558:T367K	ENSP00000283558:T367K	T	+	2	0	ATP11A	112529085	1.000000	0.71417	0.954000	0.39281	0.183000	0.23260	7.490000	0.81461	2.515000	0.84797	0.557000	0.71058	ACG		0.547	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113481084	C	A	113481084	3	1	546	1	0	0	0	0	1	0	0	0	1119	536	19	4	1146	4	ATP11A	13	113481084	Missense_Mutation	SNP	C	TCGA-CJ-5680-01A-11D-1534-10		113481084	1688794	38	29398											
ARID4A	5926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58830901	58830901	+	Silent	SNP	T	T	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr14:58830901T>A	ENST00000355431.3	+	20	2467	c.2094T>A	c.(2092-2094)tcT>tcA	p.S698S	ARID4A_ENST00000348476.3_Silent_p.S698S|ARID4A_ENST00000395168.3_Silent_p.S698S|ARID4A_ENST00000431317.2_Silent_p.S698S	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	698					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S698S(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTGTTCATCTGATAGTGAAA	0.229																																																2	Substitution - coding silent(2)	kidney(2)											14	15	15					14																	58830901		1832	3964	5796	SO:0001819	synonymous_variant	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2094T>A	14.37:g.58830901T>A			Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	CCDS9732.1																																																																																				0.229	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		A	58830901	T	A	58830901	2	1	546	1	0	0	0	0	0	0	0	1	919	1567	55	5		5	ARID4A	14	58830901	Silent	SNP	T	TCGA-CJ-5680-01A-11D-1534-10		58830901	48518639	39	29399											
HERC2	8924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	28473477	28473477	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr15:28473477C>A	ENST00000261609.7	-	35	5459	c.5351G>T	c.(5350-5352)cGc>cTc	p.R1784L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R1784L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGGAGGAAGCGGGCTTGCGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											96	74	81					15																	28473477		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5351G>T	15.37:g.28473477C>A	ENSP00000261609:p.Arg1784Leu			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288109	0.80803	.	.	ENSG00000128731	ENST00000261609	T	0.61040	0.14	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	L	0.50333	1.59	0.80722	D	1	D	0.60160	0.987	D	0.67725	0.953	T	0.74551	-0.3628	10	0.87932	D	0	.	17.4184	0.87507	0.0:1.0:0.0:0.0	.	1784	O95714	HERC2_HUMAN	L	1784	ENSP00000261609:R1784L	ENSP00000261609:R1784L	R	-	2	0	HERC2	26147072	1.000000	0.71417	0.994000	0.49952	0.828000	0.46876	7.252000	0.78309	2.403000	0.81681	0.555000	0.69702	CGC		0.602	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		A	28473477	C	A	28473477	3	1	546	1	0	0	0	0	1	0	0	0	7060	768	27	4	9389	4	HERC2	15	28473477	Missense_Mutation	SNP	C	TCGA-CJ-5680-01A-11D-1534-10		28473477	74057915	40	29400											
CDAN1	146059	broad.mit.edu	37	15	43026473	43026473	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr15:43026473G>T	ENST00000356231.3	-	7	1231	c.1208C>A	c.(1207-1209)cCa>cAa	p.P403Q		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	403					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P403Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTGCAGAGCTGGTGAGAAGCA	0.567																																																1	Substitution - Missense(1)	kidney(1)											65	63	64					15																	43026473		2203	4299	6502	SO:0001583	missense	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1208C>A	15.37:g.43026473G>T	ENSP00000348564:p.Pro403Gln		Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095956	0.94197	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.90197	-2.63	5.44	5.44	0.79542	.	0.056135	0.64402	D	0.000001	D	0.93818	0.8023	L	0.46157	1.445	0.54753	D	0.999989	D	0.89917	1.0	D	0.74674	0.984	D	0.94299	0.7535	10	0.87932	D	0	-9.079	19.2703	0.94006	0.0:0.0:1.0:0.0	.	403	Q8IWY9	CDAN1_HUMAN	Q	403;401	ENSP00000348564:P403Q	ENSP00000267892:P401Q	P	-	2	0	CDAN1	40813765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.114000	0.94329	2.553000	0.86117	0.563000	0.77884	CCA		0.567	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		T	43026473	G	T	43026473	3	4	546	1	0	0	0	0	1	0	0	0	3056	1348	47	4	2563	4	CDAN1	15	43026473	Missense_Mutation	SNP	G	TCGA-CJ-5680-01A-11D-1534-10	14552996	43026473	59504919	41	29401											
MVP	9961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	29858602	29858602	+	Missense_Mutation	SNP	G	G	A	rs200956879		TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr16:29858602G>A	ENST00000357402.5	+	14	2488	c.2350G>A	c.(2350-2352)Gct>Act	p.A784T	MVP_ENST00000395353.1_Missense_Mutation_p.A784T	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	784					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.A784T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GGTGAGCAAGGCTCAGCAGCT	0.597																																																1	Substitution - Missense(1)	kidney(1)											59	57	58					16																	29858602		2197	4300	6497	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.2350G>A	16.37:g.29858602G>A	ENSP00000349977:p.Ala784Thr		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248651	0.59103	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.33654	1.4;1.4	6.08	6.08	0.98989	.	0.100602	0.64402	D	0.000002	T	0.32041	0.0816	L	0.34521	1.04	0.80722	D	1	B	0.22080	0.064	B	0.17722	0.019	T	0.02603	-1.1135	10	0.38643	T	0.18	-1.4796	18.1659	0.89727	0.0:0.0:1.0:0.0	.	784	Q14764	MVP_HUMAN	T	784	ENSP00000349977:A784T;ENSP00000378760:A784T	ENSP00000349977:A784T	A	+	1	0	MVP	29766103	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.879000	0.56138	2.894000	0.99253	0.591000	0.81541	GCT		0.597	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		A	29858602	G	A	29858602	3	1	546	1	0	0	0	0	1	0	0	0	9998	1203	42	2	2400	2	MVP	16	29858602	Missense_Mutation	SNP	G	TCGA-CJ-5680-01A-11D-1534-10		29858602	60496151	42	29402											
KIAA0802	23255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	8793068	8793068	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr18:8793068G>C	ENST00000359865.3	+	8	2102	c.1960G>C	c.(1960-1962)Gcc>Ccc	p.A654P	SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron	NM_015210.3	NP_056025.2												p.A654P(1)									CGTGCAGGCGGCCAGACTGCA	0.512																																																1	Substitution - Missense(1)	kidney(1)											99	109	106					18																	8793068		2203	4300	6503	SO:0001583	missense	0																														ENST00000359865.3:c.1960G>C	18.37:g.8793068G>C	ENSP00000352927:p.Ala654Pro			Missense_Mutation	SNP	ENST00000359865.3	37	CCDS11841.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496922	0.44352	.	.	ENSG00000168502	ENST00000306329;ENST00000359865	T	0.43688	0.94	5.68	-1.89	0.07689	.	0.762462	0.11601	N	0.547742	T	0.21962	0.0529	N	0.08118	0	0.52501	D	0.999957	P	0.34757	0.467	B	0.37888	0.26	T	0.05971	-1.0853	10	0.35671	T	0.21	.	8.3738	0.32432	0.4585:0.109:0.4325:0.0	.	654	Q9Y4B5-3	.	P	675;654	ENSP00000352927:A654P	ENSP00000305027:A675P	A	+	1	0	CCDC165	8783068	1.000000	0.71417	0.491000	0.27477	0.894000	0.52154	0.921000	0.28718	-0.615000	0.05679	0.561000	0.74099	GCC		0.512	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			C	8793068	G	C	8793068	3	2	546	1	0	0	0	0	1	0	0	0	8196	1203	42	4	1982	4	KIAA0802	18	8793068	Missense_Mutation	SNP	G	TCGA-CJ-5680-01A-11D-1534-10		8793068	69284180	43	29403											
TYK2	7297	broad.mit.edu	37	19	10473019	10473019	+	Silent	SNP	C	C	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr19:10473019C>A	ENST00000525621.1	-	11	2071	c.1590G>T	c.(1588-1590)ggG>ggT	p.G530G	TYK2_ENST00000524462.1_Silent_p.G345G|TYK2_ENST00000264818.6_Silent_p.G530G|TYK2_ENST00000529370.1_Silent_p.G530G	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	530					cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G530G(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCAAGGCAGCCCCAAGTTCCC	0.652																																																1	Substitution - coding silent(1)	kidney(1)											36	39	38					19																	10473019		2203	4300	6503	SO:0001819	synonymous_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1590G>T	19.37:g.10473019C>A			Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	CCDS12236.1																																																																																				0.652	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			A	10473019	C	A	10473019	2	1	546	1	0	0	0	0	0	0	0	1	16815	610	22	4		4	TYK2	19	10473019	Silent	SNP	C	TCGA-CJ-5680-01A-11D-1534-10		10473019	48655964	44	29404											
DMKN	93099	hgsc.bcm.edu;ucsc.edu	37	19	36003991	36003991	+	Silent	SNP	G	G	A	rs200194624		TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr19:36003991G>A	ENST00000339686.3	-	1	563	c.387C>T	c.(385-387)cgC>cgT	p.R129R	DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000451297.2_Silent_p.R129R|DMKN_ENST00000429837.1_Silent_p.R129R|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000440396.1_Silent_p.R129R|DMKN_ENST00000447113.2_Silent_p.R129R|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000424570.2_Silent_p.R129R|DMKN_ENST00000418261.1_Silent_p.R129R|DMKN_ENST00000419602.1_Silent_p.R129R	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	129	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCAGGAGCCGCGGACAGCAT	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17035	0.0		0.0	False		,,,				2504	0.0															0													78	80	79					19																	36003991		2203	4300	6503	SO:0001819	synonymous_variant	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.387C>T	19.37:g.36003991G>A			A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	CCDS12463.1																																																																																				0.617	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		A	36003991	G	A	36003991	2	1	546	1	0	0	0	0	0	0	0	1	4584	1074	38	1		1	DMKN	19	36003991	Silent	SNP	G	TCGA-CJ-5680-01A-11D-1534-10	25530972	36003991	23124992	45	29405											
BCAM	4059	broad.mit.edu	37	19	45317871	45317871	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr19:45317871A>G	ENST00000270233.6	+	8	954	c.932A>G	c.(931-933)gAg>gGg	p.E311G	BCAM_ENST00000589651.1_Missense_Mutation_p.E311G	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	311	Ig-like C2-type 1.|Interaction with laminin alpha5.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)	p.E311G(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GATGAGCAGGAGGAAGTGCTG	0.612																																																1	Substitution - Missense(1)	kidney(1)											85	77	80					19																	45317871		2203	4300	6503	SO:0001583	missense	4059			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.932A>G	19.37:g.45317871A>G	ENSP00000270233:p.Glu311Gly		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	15.32	2.799134	0.50208	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.03301	3.98;3.98	4.43	2.15	0.27550	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05960	0.0155	N	0.16166	0.38	0.20074	N	0.999932	D	0.89917	1.0	D	0.91635	0.999	T	0.42464	-0.9450	9	0.39692	T	0.17	-27.7249	4.1868	0.10402	0.6826:0.2073:0.1101:0.0	.	311	P50895	BCAM_HUMAN	G	311	ENSP00000270233:E311G;ENSP00000375817:E311G	ENSP00000270233:E311G	E	+	2	0	BCAM	50009711	0.993000	0.37304	0.414000	0.26521	0.215000	0.24574	4.083000	0.57643	0.689000	0.31550	0.379000	0.24179	GAG		0.612	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		G	45317871	A	G	45317871	3	3	546	1	0	0	0	0	1	0	0	0	1344	304	11	3	962	3	BCAM	19	45317871	Missense_Mutation	SNP	A	TCGA-CJ-5680-01A-11D-1534-10	9313880	45317871	13811112	46	29406											
MED25	81857	broad.mit.edu;hgsc.bcm.edu	37	19	50338353	50338353	+	Silent	SNP	C	C	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr19:50338353C>T	ENST00000312865.6	+	14	1646	c.1593C>T	c.(1591-1593)agC>agT	p.S531S	MED25_ENST00000538643.1_Silent_p.S318S	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	531	Interaction with CREBBP.|Interaction with VP16.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)	p.S531S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACGACCAGAGCGGCTTCGTCA	0.607																																					GBM(51;894 1657 37868)											2	Substitution - coding silent(2)	kidney(2)											198	174	182					19																	50338353		2203	4300	6503	SO:0001819	synonymous_variant	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1593C>T	19.37:g.50338353C>T			A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Silent	SNP	ENST00000312865.6	37	CCDS33075.1																																																																																				0.607	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		T	50338353	C	T	50338353	2	4	546	1	0	0	0	0	0	0	0	1	9445	767	27	1		1	MED25	19	50338353	Silent	SNP	C	TCGA-CJ-5680-01A-11D-1534-10	5020482	50338353	8790630	47	29407											
ZNF677	342926	hgsc.bcm.edu;ucsc.edu	37	19	53740495	53740495	+	Silent	SNP	G	G	A	rs574077624	byFrequency	TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr19:53740495G>A	ENST00000598513.1	-	5	1635	c.1485C>T	c.(1483-1485)gcC>gcT	p.A495A	ZNF677_ENST00000333952.4_Silent_p.A495A	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GTTCAGTAAAGGCTTTGCCAC	0.368													G|||	4	0.000798722	0.0	0.0029	5008	,	,		19430	0.0		0.002	False		,,,				2504	0.0															0													85	83	84					19																	53740495		2203	4299	6502	SO:0001819	synonymous_variant	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1485C>T	19.37:g.53740495G>A				Silent	SNP	ENST00000598513.1	37	CCDS12861.1																																																																																				0.368	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		A	53740495	G	A	53740495	2	1	546	1	0	0	0	0	0	0	0	1	18089	987	35	2		2	ZNF677	19	53740495	Silent	SNP	G	TCGA-CJ-5680-01A-11D-1534-10	3402142	53740495	5388488	48	29408											
CLTCL1	8218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	19175075	19175075	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr22:19175075A>T	ENST00000263200.10	-	29	4672	c.4600T>A	c.(4600-4602)Tac>Aac	p.Y1534N	CLTCL1_ENST00000427926.1_Missense_Mutation_p.Y1534N|CLTCL1_ENST00000353891.5_Intron|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1534	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.Y1534N(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCAACCTTGTAGAGATGATCC	0.557			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	1	Substitution - Missense(1)	kidney(1)											96	105	102					22																	19175075		2060	4192	6252	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4600T>A	22.37:g.19175075A>T	ENSP00000445677:p.Tyr1534Asn		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418245	0.83449	.	.	ENSG00000070371	ENST00000263200;ENST00000427926	T;T	0.22134	1.97;1.97	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	T	0.49949	0.1587	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.60031	-0.7342	10	0.87932	D	0	-15.0462	13.2908	0.60270	1.0:0.0:0.0:0.0	.	1534	P53675	CLH2_HUMAN	N	1534	ENSP00000445677:Y1534N;ENSP00000441158:Y1534N	ENSP00000445677:Y1534N	Y	-	1	0	CLTCL1	17555075	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.286000	0.89916	1.738000	0.51689	0.533000	0.62120	TAC		0.557	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		T	19175075	A	T	19175075	3	4	546	1	0	0	0	0	1	0	0	0	3569	420	15	5	338	5	CLTCL1	22	19175075	Missense_Mutation	SNP	A	TCGA-CJ-5680-01A-11D-1534-10		19175075	32129491	49	29409											
GGT5	2687	broad.mit.edu;ucsc.edu	37	22	24627459	24627459	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chr22:24627459G>A	ENST00000327365.4	-	6	1210	c.794C>T	c.(793-795)cCc>cTc	p.P265L	GGT5_ENST00000398292.3_Missense_Mutation_p.P265L|GGT5_ENST00000418439.2_Missense_Mutation_p.P188L|GGT5_ENST00000263112.7_Missense_Mutation_p.P233L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	265					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.P265L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CACCACCTCGGGCTGGAACTT	0.622																																																1	Substitution - Missense(1)	kidney(1)											28	25	26					22																	24627459		2192	4294	6486	SO:0001583	missense	2687			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.794C>T	22.37:g.24627459G>A	ENSP00000330080:p.Pro265Leu		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199229	0.38806	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	4.91	4.91	0.64330	.	0.127765	0.52532	D	0.000073	T	0.14657	0.0354	M	0.82056	2.57	0.32644	N	0.520345	P;B;B;B;B	0.41498	0.752;0.202;0.014;0.368;0.014	B;B;B;B;B	0.41764	0.366;0.135;0.026;0.142;0.026	T	0.12734	-1.0536	10	0.54805	T	0.06	-8.2213	9.6411	0.39839	0.0968:0.0:0.9032:0.0	.	188;233;265;265;265	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	L	265;233;180;265;188	ENSP00000330080:P265L;ENSP00000263112:P233L;ENSP00000381340:P265L;ENSP00000392146:P188L	ENSP00000263112:P233L	P	-	2	0	GGT5	22957459	0.819000	0.29175	0.848000	0.33437	0.833000	0.47200	2.949000	0.49074	2.470000	0.83445	0.485000	0.47835	CCC		0.622	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		A	24627459	G	A	24627459	3	1	546	1	0	0	0	0	1	0	0	0	6364	1232	43	2	997	2	GGT5	22	24627459	Missense_Mutation	SNP	G	TCGA-CJ-5680-01A-11D-1534-10	5452384	24627459	26677107	50	29410											
MOSPD2	158747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	14891810	14891810	+	Splice_Site	SNP	G	G	A			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chrX:14891810G>A	ENST00000380492.3	+	2	97		c.e2-1		FANCB_ENST00000324138.3_5'Flank|MOSPD2_ENST00000497603.2_Splice_Site|MOSPD2_ENST00000482354.1_Splice_Site|FANCB_ENST00000398334.1_5'Flank	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2							integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					CTCCCATCCAGAATCACGCCC	0.557																																																1	Unknown(1)	kidney(1)											203	189	194					X																	14891810		2203	4300	6503	SO:0001630	splice_region_variant	158747			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.10-1G>A	X.37:g.14891810G>A			Q8N3H2|Q8NA83	Splice_Site	SNP	ENST00000380492.3	37	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	g	9.832	1.188592	0.21954	.	.	ENSG00000130150	ENST00000380492	.	.	.	4.82	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6964	0.40161	0.1:0.0:0.9:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MOSPD2	14801731	0.806000	0.28996	0.043000	0.18650	0.419000	0.31324	2.923000	0.48868	1.161000	0.42604	-0.169000	0.13324	.		0.557	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581	Intron	A	14891810	G	A	14891810	5	1	546	1	0	0	0	0	0	0	1	0	9718	956	33	2	15	2	MOSPD2	23	14891810	Splice_Site	SNP	G	TCGA-CJ-5680-01A-11D-1534-10		14891810	140378750	51	29411											
MAGEB3	4114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	30254277	30254277	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5680-01A-11D-1534-10	TCGA-CJ-5680-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c718814-9d25-49a6-a430-2019071ec0ab	ef7a85b0-807b-4c98-9c63-856a0079d1fd	g.chrX:30254277A>T	ENST00000361644.2	+	5	973	c.236A>T	c.(235-237)tAc>tTc	p.Y79F		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	79								p.Y79F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GATGTTTCTTACAAAAAGTCA	0.463																																																1	Substitution - Missense(1)	kidney(1)											30	26	27					X																	30254277		2202	4300	6502	SO:0001583	missense	4114			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.236A>T	X.37:g.30254277A>T	ENSP00000355198:p.Tyr79Phe		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.738215	0.00681	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04194	3.68;3.68	4.1	-8.21	0.01041	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.02230	0.0069	N	0.16656	0.425	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30327	-0.9982	9	0.10377	T	0.69	.	6.4479	0.21887	0.1996:0.2634:0.4624:0.0747	.	79	O15480	MAGB3_HUMAN	F	79	ENSP00000368271:Y79F;ENSP00000355198:Y79F	ENSP00000355198:Y79F	Y	+	2	0	MAGEB3	30164198	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.060000	0.00303	-5.235000	0.00018	-1.232000	0.01568	TAC		0.463	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		T	30254277	A	T	30254277	3	4	546	1	0	0	0	0	1	0	0	0	9179	391	14	5	238	5	MAGEB3	23	30254277	Missense_Mutation	SNP	A	TCGA-CJ-5680-01A-11D-1534-10	15362467	30254277	125016283	52	29412											
PGLYRP3	114771	broad.mit.edu;ucsc.edu	37	1	153275057	153275057	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr1:153275057C>A	ENST00000290722.1	-	5	608	c.556G>T	c.(556-558)Gct>Tct	p.A186S		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	186					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.A186S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTCCCAAGCAGATCGTTTG	0.468																																																1	Substitution - Missense(1)	kidney(1)											208	204	205					1																	153275057		2203	4300	6503	SO:0001583	missense	114771			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.556G>T	1.37:g.153275057C>A	ENSP00000290722:p.Ala186Ser		A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	C	8.199	0.797782	0.16327	.	.	ENSG00000159527	ENST00000290722	T	0.16743	2.32	4.49	-1.39	0.08997	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (2);	0.596926	0.15853	N	0.241425	T	0.03263	0.0095	L	0.39397	1.21	0.09310	N	1	B	0.06786	0.001	B	0.21917	0.037	T	0.42310	-0.9459	10	0.25106	T	0.35	-24.4715	2.9246	0.05780	0.3548:0.3436:0.0:0.3016	.	186	Q96LB9	PGRP3_HUMAN	S	186	ENSP00000290722:A186S	ENSP00000290722:A186S	A	-	1	0	PGLYRP3	151541681	0.000000	0.05858	0.579000	0.28588	0.783000	0.44284	-1.073000	0.03430	-0.069000	0.12931	0.655000	0.94253	GCT		0.468	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		A	153275057	C	A	153275057	3	1	547	1	0	0	0	0	1	0	0	0	11797	710	25	4	481	4	PGLYRP3	1	153275057	Missense_Mutation	SNP	C	TCGA-CJ-5681-01A-11D-1534-10		153275057	95975564	1	29413											
GLI2	2736	hgsc.bcm.edu;ucsc.edu	37	2	121685023	121685026	+	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	TCTG	TCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr2:121685023_121685026delTCTG	ENST00000452319.1	+	3	295_298	c.235_238delTCTG	c.(235-240)tctgtcfs	p.SV79fs	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Frame_Shift_Del_p.SV79fs					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGAGCCTCATTCTGTCCACGGTGT	0.627																																																0																																										SO:0001589	frameshift_variant	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.235_238delTCTG	2.37:g.121685023_121685026delTCTG	ENSP00000390436:p.Ser79fs			Frame_Shift_Del	DEL	ENST00000452319.1	37	CCDS33283.1																																																																																				0.627	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		-	121685026	TCTG	-	121685023	7	5	547	1	0	1	0	1	0	0	0	0	6440	1783	62	0	241	0	GLI2	2	121685023	Frame_Shift_Del	DEL	TCTG	TCGA-CJ-5681-01A-11D-1534-10		121685023	121514350	2	29414											
CRYGA	1418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	209025594	209025594	+	Missense_Mutation	SNP	C	C	G	rs201293779		TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr2:209025594C>G	ENST00000304502.4	-	3	478	c.459G>C	c.(457-459)agG>agC	p.R153S		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	153	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.R153S(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AGTCGTGGTACCTTCTGTAGT	0.562																																																1	Substitution - Missense(1)	kidney(1)											84	91	88					2																	209025594		2203	4300	6503	SO:0001583	missense	1418				CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"gamma crystallin 5"	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.459G>C	2.37:g.209025594C>G	ENSP00000302105:p.Arg153Ser		Q53ST5	Missense_Mutation	SNP	ENST00000304502.4	37	CCDS33367.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.436906	0.25900	.	.	ENSG00000168582	ENST00000304502	T	0.73897	-0.79	4.69	-5.99	0.02213	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.235594	0.41294	D	0.000913	T	0.60405	0.2266	L	0.46614	1.455	0.09310	N	0.999998	P	0.34864	0.473	B	0.37047	0.24	T	0.55283	-0.8165	10	0.25751	T	0.34	.	10.9654	0.47410	0.0:0.2535:0.5495:0.197	.	153	P11844	CRGA_HUMAN	S	153	ENSP00000302105:R153S	ENSP00000302105:R153S	R	-	3	2	CRYGA	208733839	0.000000	0.05858	0.166000	0.22797	0.477000	0.33069	-0.899000	0.04101	-1.085000	0.03088	-0.181000	0.13052	AGG		0.562	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		G	209025594	C	G	209025594	3	3	547	1	0	0	0	0	1	0	0	0	3916	506	18	4	69	4	CRYGA	2	209025594	Missense_Mutation	SNP	C	TCGA-CJ-5681-01A-11D-1534-10	87340571	209025594	34173779	3	29415											
NPRL2	10641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	50386816	50386816	+	Splice_Site	SNP	C	C	G			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr3:50386816C>G	ENST00000232501.3	-	4	887		c.e4+1		ZMYND10_ENST00000231749.3_5'Flank|NPRL2_ENST00000493465.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)						negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)	p.?(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GCTGGCCATACCAATGGGCAG	0.552																																																1	Unknown(1)	kidney(1)											70	59	63					3																	50386816		2203	4300	6503	SO:0001630	splice_region_variant	10641			AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.448+1G>C	3.37:g.50386816C>G			A8K831|Q6FGS2|Q9Y249|Q9Y497	Splice_Site	SNP	ENST00000232501.3	37	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294934	0.23564	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.54	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7491	0.77969	0.1377:0.8623:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPRL2	50361820	1.000000	0.71417	0.990000	0.47175	0.209000	0.24338	7.722000	0.84778	1.323000	0.45263	-0.182000	0.12963	.		0.552	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545	Intron	G	50386816	C	G	50386816	5	3	547	1	0	0	0	0	0	0	1	0	10599	521	18	4	725	4	NPRL2	3	50386816	Splice_Site	SNP	C	TCGA-CJ-5681-01A-11D-1534-10		50386816	147635614	4	29416											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56481876	56481876	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr6:56481876T>C	ENST00000370765.6	-	24	6496	c.6389A>G	c.(6388-6390)aAc>aGc	p.N2130S	DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.N2130S(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGAAACTTGTTAAGAGTTTT	0.438																																																2	Substitution - Missense(2)	kidney(2)											51	52	52					6																	56481876		2203	4300	6503	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6389A>G	6.37:g.56481876T>C	ENSP00000359801:p.Asn2130Ser		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.581595	0.00879	.	.	ENSG00000151914	ENST00000370765	T	0.66638	-0.22	5.77	2.8	0.32819	.	.	.	.	.	T	0.24431	0.0592	.	.	.	0.21822	N	0.999529	B	0.02656	0.0	B	0.01281	0.0	T	0.04165	-1.0972	7	0.14252	T	0.57	.	7.8836	0.29637	0.0:0.502:0.0:0.498	.	2130	Q03001-3	.	S	2130	ENSP00000359801:N2130S	ENSP00000359801:N2130S	N	-	2	0	DST	56589835	0.813000	0.29090	0.989000	0.46669	0.626000	0.37791	1.014000	0.29950	0.352000	0.24053	-0.417000	0.06048	AAC		0.438	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		C	56481876	T	C	56481876	3	2	547	1	0	0	0	0	1	0	0	0	4785	1725	60	3	14010	3	DST	6	56481876	Missense_Mutation	SNP	T	TCGA-CJ-5681-01A-11D-1534-10		56481876	114633191	5	29417											
SOBP	55084	broad.mit.edu;ucsc.edu	37	6	107811866	107811866	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr6:107811866A>G	ENST00000317357.5	+	1	705	c.46A>G	c.(46-48)Agc>Ggc	p.S16G		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.S16G(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AAATAAACGGAGCAGGAAGCC	0.537																																																1	Substitution - Missense(1)	kidney(1)											53	63	60					6																	107811866		1861	4106	5967	SO:0001583	missense	55084			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.46A>G	6.37:g.107811866A>G	ENSP00000318900:p.Ser16Gly			Missense_Mutation	SNP	ENST00000317357.5	37	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052105	0.75960	.	.	ENSG00000112320	ENST00000317357	T	0.11821	2.74	4.9	3.71	0.42584	.	0.000000	0.85682	U	0.000000	T	0.05502	0.0145	L	0.38175	1.15	0.50632	D	0.999882	B	0.12630	0.006	B	0.16722	0.016	T	0.08534	-1.0717	10	0.72032	D	0.01	-11.0105	10.7341	0.46115	0.9224:0.0:0.0775:0.0	.	16	A7XYQ1	SOBP_HUMAN	G	16	ENSP00000318900:S16G	ENSP00000318900:S16G	S	+	1	0	SOBP	107918559	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.564000	0.90726	1.831000	0.53308	0.379000	0.24179	AGC		0.537	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		G	107811866	A	G	107811866	3	3	547	1	0	0	0	0	1	0	0	0	14918	304	11	3	48	3	SOBP	6	107811866	Missense_Mutation	SNP	A	TCGA-CJ-5681-01A-11D-1534-10	51329990	107811866	63303201	6	29418											
SEMA3A	10371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	83640554	83640554	+	Silent	SNP	A	A	G			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr7:83640554A>G	ENST00000265362.4	-	8	1184	c.870T>C	c.(868-870)cgT>cgC	p.R290R	SEMA3A_ENST00000436949.1_Silent_p.R290R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	290	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.R290R(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGCAAATCAGACGAGCTTTGA	0.403																																																1	Substitution - coding silent(1)	kidney(1)											134	123	127					7																	83640554		2203	4300	6503	SO:0001819	synonymous_variant	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.870T>C	7.37:g.83640554A>G				Silent	SNP	ENST00000265362.4	37	CCDS5599.1																																																																																				0.403	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		G	83640554	A	G	83640554	2	3	547	1	0	0	0	0	0	0	0	1	14030	262	10	3		3	SEMA3A	7	83640554	Silent	SNP	A	TCGA-CJ-5681-01A-11D-1534-10		83640554	75498109	7	29419											
PLOD3	8985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100860059	100860060	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr7:100860059_100860060GC>TA	ENST00000223127.3	-	2	515_516	c.117_118GC>TA	c.(115-120)ctGCtg>ctTAtg	p.L40M	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	40					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.L44M(1)|p.L39L(1)|p.L40M(1)|p.L43L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTGATCACCAGCAGCTTCTCTG	0.589																																																4	Substitution - Missense(2)|Substitution - coding silent(2)	kidney(4)																																								SO:0001583	missense	8985			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.117_118delinsTA	7.37:g.100860059_100860060delinsTA	ENSP00000223127:p.Leu40Met		B2R6W6|Q540C3	Missense_Mutation|Silent	SNP	ENST00000223127.3	37	CCDS5715.1																																																																																				0.589	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			TA	100860060	GC	TA	100860059	3	4	547	1	0	0	0	0	1	0	0	0	12105	962	34	4	2170	4	PLOD3	7	100860059	Missense_Mutation	DNP	GC	TCGA-CJ-5681-01A-11D-1534-10	17219505	100860059	58278604	8	29420											
FAM71F2	346653	broad.mit.edu;ucsc.edu	37	7	128323136	128323136	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr7:128323136G>A	ENST00000480462.1	+	5	959	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	FAM71F2_ENST00000477515.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.E276K			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	285								p.E285K(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CAGCCTCTGGGAACAAGAGGA	0.478																																																1	Substitution - Missense(1)	kidney(1)											46	44	45					7																	128323136		1921	4131	6052	SO:0001583	missense	346653			BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.853G>A	7.37:g.128323136G>A	ENSP00000420140:p.Glu285Lys		Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196381	0.38806	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001	T;T;T;T	0.12361	2.71;2.69;2.71;2.71	4.18	4.18	0.49190	.	0.000000	0.50627	D	0.000118	T	0.12008	0.0292	L	0.32530	0.975	0.34450	D	0.70061	P;P	0.43094	0.799;0.698	B;B	0.40134	0.32;0.253	T	0.16394	-1.0404	10	0.72032	D	0.01	-8.3253	12.2486	0.54585	0.0:0.0:1.0:0.0	.	276;285	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	K	276;285;276;276	ENSP00000418907:E276K;ENSP00000420140:E285K;ENSP00000367976:E276K;ENSP00000401654:E276K	ENSP00000367976:E276K	E	+	1	0	FAM71F2	128110372	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	4.060000	0.57477	2.351000	0.79841	0.558000	0.71614	GAA		0.478	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			A	128323136	G	A	128323136	3	1	547	1	0	0	0	0	1	0	0	0	5615	1175	41	2	871	2	FAM71F2	7	128323136	Missense_Mutation	SNP	G	TCGA-CJ-5681-01A-11D-1534-10	27463077	128323136	30815527	9	29421											
CHD7	55636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	61754584	61754584	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr8:61754584G>A	ENST00000423902.2	+	21	5302	c.4823G>A	c.(4822-4824)aGg>aAg	p.R1608K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1608					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1608K(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAATGTTTCAGGGTGGAGAAG	0.433																																																2	Substitution - Missense(2)	kidney(2)											67	67	67					8																	61754584		1911	4132	6043	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4823G>A	8.37:g.61754584G>A	ENSP00000392028:p.Arg1608Lys		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.893918	0.72639	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.68765	-0.35	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	L	0.42686	1.345	0.58432	D	0.999999	B	0.20261	0.043	B	0.27715	0.082	T	0.58885	-0.7557	10	0.44086	T	0.13	-15.3243	20.054	0.97641	0.0:0.0:1.0:0.0	.	1608	Q9P2D1	CHD7_HUMAN	K	1608	ENSP00000392028:R1608K	ENSP00000307304:R1608K	R	+	2	0	CHD7	61917138	1.000000	0.71417	0.462000	0.27118	0.997000	0.91878	9.813000	0.99286	2.808000	0.96608	0.655000	0.94253	AGG		0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		A	61754584	G	A	61754584	3	1	547	1	0	0	0	0	1	0	0	0	3332	1000	35	2	4901	2	CHD7	8	61754584	Missense_Mutation	SNP	G	TCGA-CJ-5681-01A-11D-1534-10		61754584	84609438	10	29422											
KIF27	55582	broad.mit.edu;hgsc.bcm.edu	37	9	86474157	86474157	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr9:86474157C>A	ENST00000297814.2	-	14	3207	c.3064G>T	c.(3064-3066)Gtc>Ttc	p.V1022F	RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.V925F|KIF27_ENST00000413982.1_Missense_Mutation_p.V956F|RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000592283.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1022					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1022F(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTCTGGAGGACTTCAACTTGT	0.408																																																1	Substitution - Missense(1)	kidney(1)											227	197	207					9																	86474157		2202	4300	6502	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3064G>T	9.37:g.86474157C>A	ENSP00000297814:p.Val1022Phe		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239290	0.22711	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.46451	0.87;0.87;0.87	4.59	1.74	0.24563	.	0.969423	0.08452	N	0.943816	T	0.21674	0.0522	N	0.08118	0	0.09310	N	1	P;B;B	0.37636	0.603;0.432;0.257	B;B;B	0.37943	0.136;0.261;0.143	T	0.16748	-1.0392	10	0.62326	D	0.03	.	2.1161	0.03714	0.1369:0.5016:0.133:0.2285	.	925;956;1022	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	F	1022;956;925	ENSP00000297814:V1022F;ENSP00000401688:V956F;ENSP00000333928:V925F	ENSP00000297814:V1022F	V	-	1	0	KIF27	85663977	0.911000	0.30947	0.771000	0.31576	0.531000	0.34715	1.339000	0.33885	0.187000	0.20147	-1.108000	0.02087	GTC		0.408	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		A	86474157	C	A	86474157	3	1	547	1	0	0	0	0	1	0	0	0	8298	565	20	4	1161	4	KIF27	9	86474157	Missense_Mutation	SNP	C	TCGA-CJ-5681-01A-11D-1534-10		86474157	54739274	11	29423											
SLC16A9	220963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61432539	61432539	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr10:61432539C>G	ENST00000395348.3	-	3	965	c.329G>C	c.(328-330)gGc>gCc	p.G110A	SLC16A9_ENST00000395347.1_Missense_Mutation_p.G110A	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	110					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.G110A(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TACAACAATGCCATAGGAAAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											95	88	90					10																	61432539		2203	4300	6503	SO:0001583	missense	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.329G>C	10.37:g.61432539C>G	ENSP00000378757:p.Gly110Ala		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922515	0.92319	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.77098	-1.07;-1.07	5.84	5.84	0.93424	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.093725	0.64402	D	0.000001	D	0.89653	0.6777	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89742	0.3934	10	0.62326	D	0.03	.	20.1392	0.98050	0.0:1.0:0.0:0.0	.	110	Q7RTY1	MOT9_HUMAN	A	110	ENSP00000378757:G110A;ENSP00000378756:G110A	ENSP00000378756:G110A	G	-	2	0	SLC16A9	61102545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.433000	0.80362	2.775000	0.95449	0.655000	0.94253	GGC		0.428	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		G	61432539	C	G	61432539	3	3	547	1	0	0	0	0	1	0	0	0	14421	739	26	4	1216	4	SLC16A9	10	61432539	Missense_Mutation	SNP	C	TCGA-CJ-5681-01A-11D-1534-10		61432539	74102208	12	29424											
OR5W2	390148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55681849	55681849	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr11:55681849A>T	ENST00000344514.1	-	1	209	c.210T>A	c.(208-210)gaT>gaA	p.D70E		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D70E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATAGCAGAGATCACAGAAAG	0.403																																					Melanoma(48;171 1190 15239 43886 49348)											1	Substitution - Missense(1)	kidney(1)											126	120	122					11																	55681849		2201	4296	6497	SO:0001583	missense	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.210T>A	11.37:g.55681849A>T	ENSP00000342448:p.Asp70Glu			Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310161	0.60414	.	.	ENSG00000187612	ENST00000344514	T	0.01152	5.26	5.01	0.987	0.19790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000720	T	0.02649	0.0080	L	0.48362	1.52	0.29316	N	0.867677	D	0.67145	0.996	P	0.59487	0.858	T	0.27400	-1.0075	10	0.87932	D	0	.	7.3768	0.26833	0.5049:0.0:0.4951:0.0	.	70	Q8NH69	OR5W2_HUMAN	E	70	ENSP00000342448:D70E	ENSP00000342448:D70E	D	-	3	2	OR5W2	55438425	0.000000	0.05858	0.938000	0.37757	0.532000	0.34746	-0.462000	0.06704	-0.084000	0.12595	-0.384000	0.06662	GAT		0.403	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		T	55681849	A	T	55681849	3	4	547	1	0	0	0	0	1	0	0	0	11187	330	12	5	724	5	OR5W2	11	55681849	Missense_Mutation	SNP	A	TCGA-CJ-5681-01A-11D-1534-10		55681849	79324667	13	29425											
IGFBP6	3489	broad.mit.edu	37	12	53491636	53491638	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr12:53491636_53491638delGGA	ENST00000301464.3	+	1	408_410	c.135_137delGGA	c.(133-138)gtggag>gtg	p.E48del	IGFBP6_ENST00000548547.1_In_Frame_Del_p.E48del	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	48	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GGGGCTGCGTGGAGGAGGAGGAT	0.719																																					Esophageal Squamous(83;1656 1718 30141 34380)											0										22,3516		9,4,1756						-4.3	0.9			4	29,6929		11,7,3461	no	coding	IGFBP6	NM_002178.2		20,11,5217	A1A1,A1R,RR		0.4168,0.6218,0.4859				51,10445				SO:0001651	inframe_deletion	3489				CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.135_137delGGA	12.37:g.53491645_53491647delGGA	ENSP00000301464:p.Glu48del		Q14492	In_Frame_Del	DEL	ENST00000301464.3	37	CCDS8846.1																																																																																				0.719	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			-	53491638	GGA	-	53491636	7	5	547	1	0	1	0	1	0	0	0	0	7585	1335	47	0	137	0	IGFBP6	12	53491636	In_Frame_Del	DEL	GGA	TCGA-CJ-5681-01A-11D-1534-10		53491636	80360259	14	29426											
MSI1	4440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120791103	120791103	+	Splice_Site	SNP	G	G	A	rs140182426		TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr12:120791103G>A	ENST00000257552.2	-	10	820	c.732C>T	c.(730-732)ccC>ccT	p.P244P	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	244					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.P244P(1)		breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGACTTACCGGGGAACTGGT	0.617																																																1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	139	135	136		732	-1.1	1	12	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous-near-splice	MSI1	NM_002442.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		244/363	120791103	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	4440			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.733+1C>T	12.37:g.120791103G>A			Q96PU0|Q96PU1|Q96PU2|Q96PU3	Silent	SNP	ENST00000257552.2	37	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	G	8.391	0.839685	0.16891	2.27E-4	0.0	ENSG00000135097	ENST00000546985	T	0.42900	0.96	4.77	-1.11	0.09840	.	0.000000	0.64402	D	0.000005	T	0.43831	0.1265	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29761	-1.0001	7	0.45353	T	0.12	.	7.9032	0.29746	0.3472:0.0:0.5405:0.1122	.	.	.	.	L	176	ENSP00000446710:P176L	ENSP00000446710:P176L	P	-	2	0	MSI1	119275486	0.001000	0.12720	0.997000	0.53966	0.674000	0.39518	-1.148000	0.03185	-0.139000	0.11414	-1.360000	0.01215	CCG		0.617	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442	Silent	A	120791103	G	A	120791103	5	1	547	1	0	0	0	0	0	0	1	0	9877	1130	39	1	376	1	MSI1	12	120791103	Splice_Site	SNP	G	TCGA-CJ-5681-01A-11D-1534-10	67299467	120791103	13060792	15	29427											
C13orf37	440145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	73293134	73293134	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr13:73293134A>C	ENST00000377818.3	-	2	265	c.181T>G	c.(181-183)Tca>Gca	p.S61A		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	61					gamma-tubulin complex localization (GO:0033566)	centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)		p.S61A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						ATAACCGATGATAAAGCTTCT	0.353																																																1	Substitution - Missense(1)	kidney(1)											112	118	116					13																	73293134		2203	4300	6503	SO:0001583	missense	440145				CCDS31990.1	13q22.1	2013-08-13	2010-07-22	2010-07-22	ENSG00000204899	ENSG00000204899			33830	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1"	613448	"chromosome 13 open reading frame 37"	C13orf37		20360068	Standard	NM_001071775		Approved	LOC440145, FLJ21869, MGC150539, RP11-11C5.2, MOZART1	uc001viu.2	Q08AG7	OTTHUMG00000017069	ENST00000377818.3:c.181T>G	13.37:g.73293134A>C	ENSP00000367049:p.Ser61Ala		Q5W0P5	Missense_Mutation	SNP	ENST00000377818.3	37	CCDS31990.1	.	.	.	.	.	.	.	.	.	.	A	9.098	1.003350	0.19121	.	.	ENSG00000204899	ENST00000377818	T	0.26660	1.72	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	.	.	.	0.58432	D	0.999997	P	0.49185	0.92	D	0.64042	0.921	T	0.05599	-1.0875	9	0.02654	T	1	-15.0368	15.9666	0.79979	1.0:0.0:0.0:0.0	.	61	Q08AG7	MZT1_HUMAN	A	61	ENSP00000367049:S61A	ENSP00000367049:S61A	S	-	1	0	MZT1	72191135	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	6.884000	0.75600	2.174000	0.68829	0.482000	0.46254	TCA		0.353	MZT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045249.1	NM_001071775		C	73293134	A	C	73293134	3	2	547	1	0	0	0	0	1	0	0	0	1733	333	12	5	75	5	C13orf37	13	73293134	Missense_Mutation	SNP	A	TCGA-CJ-5681-01A-11D-1534-10		73293134	41876744	16	29428											
NIPA2	81614	hgsc.bcm.edu	37	15	23006304	23006304	+	Missense_Mutation	SNP	T	T	C	rs201538213		TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr15:23006304T>C	ENST00000337451.3	-	8	1612	c.1000A>G	c.(1000-1002)Aat>Gat	p.N334D	NIPA2_ENST00000398014.2_Missense_Mutation_p.N334D|NIPA2_ENST00000359727.4_Missense_Mutation_p.N315D|NIPA2_ENST00000398013.3_Missense_Mutation_p.N334D|NIPA2_ENST00000539711.2_Missense_Mutation_p.N315D	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	334						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CTTTCTTCATTATTATTAAGA	0.368																																																0													58	61	60					15																	23006304		2203	4300	6503	SO:0001583	missense	81614			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.1000A>G	15.37:g.23006304T>C	ENSP00000337618:p.Asn334Asp		F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	T	9.597	1.127681	0.20959	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.89875	-2.58;-2.58;-2.58	5.16	2.6	0.31112	.	0.998104	0.08119	N	0.995053	T	0.73249	0.3563	N	0.08118	0	0.27494	N	0.952199	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.61083	-0.7134	10	0.05959	T	0.93	-5.5444	5.9858	0.19434	0.0:0.4898:0.0:0.5102	.	315;334	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	D	334;334;315;334;315	ENSP00000337618:N334D;ENSP00000381096:N334D;ENSP00000352762:N315D	ENSP00000337618:N334D	N	-	1	0	NIPA2	20557745	0.945000	0.32115	0.992000	0.48379	0.990000	0.78478	0.739000	0.26173	0.779000	0.33543	0.456000	0.33151	AAT		0.368	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		C	23006304	T	C	23006304	3	2	547	1	0	0	0	0	1	0	0	0	10425	1754	61	3	86	3	NIPA2	15	23006304	Missense_Mutation	SNP	T	TCGA-CJ-5681-01A-11D-1534-10		23006304	79525088	17	29429											
ZFHX3	463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	72831125	72831125	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr16:72831125C>A	ENST00000268489.5	-	9	6128	c.5456G>T	c.(5455-5457)aGt>aTt	p.S1819I	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S905I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1819					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S1819I(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGTGCCCCACTGGTCACTGG	0.592																																																1	Substitution - Missense(1)	kidney(1)											87	82	84					16																	72831125		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5456G>T	16.37:g.72831125C>A	ENSP00000268489:p.Ser1819Ile		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913831	0.33815	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73789	-0.78;-0.76	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000015	T	0.63510	0.2517	N	0.24115	0.695	0.53005	D	0.999966	P	0.35077	0.483	B	0.27887	0.084	T	0.63470	-0.6630	10	0.46703	T	0.11	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1819	Q15911	ZFHX3_HUMAN	I	1819;905	ENSP00000268489:S1819I;ENSP00000438926:S905I	ENSP00000268489:S1819I	S	-	2	0	ZFHX3	71388626	0.994000	0.37717	0.966000	0.40874	0.929000	0.56500	3.192000	0.50989	2.854000	0.98071	0.655000	0.94253	AGT		0.592	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72831125	C	A	72831125	3	1	547	1	0	0	0	0	1	0	0	0	17639	565	20	4	5663	4	ZFHX3	16	72831125	Missense_Mutation	SNP	C	TCGA-CJ-5681-01A-11D-1534-10		72831125	17523628	18	29430											
ZFHX3	463	hgsc.bcm.edu	37	16	72992581	72992581	+	Missense_Mutation	SNP	G	G	T	rs143031716|rs572247038|rs376713069	byFrequency	TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr16:72992581G>T	ENST00000268489.5	-	2	2136	c.1464C>A	c.(1462-1464)gaC>gaA	p.D488E	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	488	Poly-Glu.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGCAACcctcgtcttcctcct	0.592																																																0													62	67	65					16																	72992581		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1464C>A	16.37:g.72992581G>T	ENSP00000268489:p.Asp488Glu		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	0.128	-1.117039	0.01799	.	.	ENSG00000140836	ENST00000268489	T	0.74315	-0.83	5.01	-4.54	0.03452	.	0.372485	0.18321	N	0.144801	T	0.40979	0.1139	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.43507	-0.9387	10	0.02654	T	1	.	7.313	0.26485	0.3631:0.4683:0.1686:0.0	.	488	Q15911	ZFHX3_HUMAN	E	488	ENSP00000268489:D488E	ENSP00000268489:D488E	D	-	3	2	ZFHX3	71550082	0.003000	0.15002	0.963000	0.40424	0.195000	0.23768	-1.237000	0.02922	-0.563000	0.06078	-0.802000	0.03209	GAC		0.592	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72992581	G	T	72992581	3	4	547	1	0	0	0	0	1	0	0	0	17639	1136	40	4	9683	4	ZFHX3	16	72992581	Missense_Mutation	SNP	G	TCGA-CJ-5681-01A-11D-1534-10	161456	72992581	17362172	19	29431											
ZCCHC14	23174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	87493617	87493621	+	Frame_Shift_Del	DEL	TGCTG	TGCTG	-			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	TGCTG	TGCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr16:87493617_87493621delTGCTG	ENST00000268616.4	-	2	493_497	c.276_280delCAGCA	c.(274-282)cacagcaaafs	p.HSK92fs		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	92							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTCACCTTTGCTGTGTTTTCCTA	0.551																																																0																																										SO:0001589	frameshift_variant	23174			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.276_280delCAGCA	16.37:g.87493617_87493621delTGCTG	ENSP00000268616:p.His92fs		D3DUN1|O60324|Q3MJD8|Q9UFP0	Frame_Shift_Del	DEL	ENST00000268616.4	37	CCDS10961.1																																																																																				0.551	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		-	87493621	TGCTG	-	87493617	7	5	547	1	0	1	0	1	0	0	0	0	17588	1821	63	0	2617	0	ZCCHC14	16	87493617	Frame_Shift_Del	DEL	TGCTG	TCGA-CJ-5681-01A-11D-1534-10	14501036	87493617	2861136	20	29432											
SCPEP1	59342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	55058513	55058513	+	Silent	SNP	C	C	G	rs376140010		TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr17:55058513C>G	ENST00000262288.3	+	2	202	c.147C>G	c.(145-147)gcC>gcG	p.A49A	RP5-1107A17.4_ENST00000572877.1_RNA|SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	49					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.A49A(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GCAAGGATGCCTACATGTTCT	0.512																																																1	Substitution - coding silent(1)	kidney(1)											145	117	126					17																	55058513		2203	4300	6503	SO:0001819	synonymous_variant	59342			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"retinoid inducible serine carboxypeptidase"					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.147C>G	17.37:g.55058513C>G			Q96A94|Q9H3F0	Silent	SNP	ENST00000262288.3	37	CCDS11593.1																																																																																				0.512	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		G	55058513	C	G	55058513	2	3	547	1	0	0	0	0	0	0	0	1	13941	668	24	4		4	SCPEP1	17	55058513	Silent	SNP	C	TCGA-CJ-5681-01A-11D-1534-10		55058513	26136697	21	29433											
NPC1	4864	broad.mit.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	21141440	21141441	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr18:21141440_21141441GC>TT	ENST00000269228.5	-	5	1068_1069	c.514_515GC>AA	c.(514-516)GCc>AAc	p.A172N	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_5'Flank	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	172					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)	p.A172T(1)|p.A172D(1)		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)					GAGTCCCAGGGCCTTGTCATTA	0.49																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	4864			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.514_515delinsTT	18.37:g.21141440_21141441delinsTT	ENSP00000269228:p.Ala172Asn		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1																																																																																				0.49	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		TT	21141441	GC	TT	21141440	3	4	547	1	0	0	0	0	1	0	0	0	10572	1203	42	4	3405	4	NPC1	18	21141440	Missense_Mutation	DNP	GC	TCGA-CJ-5681-01A-11D-1534-10		21141440	56935808	22	29434											
CCDC124	115098	broad.mit.edu	37	19	18054506	18054506	+	Silent	SNP	C	C	T			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr19:18054506C>T	ENST00000597436.1	+	5	761	c.654C>T	c.(652-654)ccC>ccT	p.P218P	CCDC124_ENST00000445755.2_Silent_p.P218P	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	218					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.P218P(1)		central_nervous_system(1)|kidney(2)	3						GGGCCGTGCCCTTCAATGCCC	0.617																																																1	Substitution - coding silent(1)	kidney(1)											23	26	25					19																	18054506		2203	4299	6502	SO:0001819	synonymous_variant	115098			BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.654C>T	19.37:g.18054506C>T				Silent	SNP	ENST00000597436.1	37	CCDS12369.1																																																																																				0.617	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466484.1	NM_138442		T	18054506	C	T	18054506	2	4	547	1	0	0	0	0	0	0	0	1	2762	668	24	2		2	CCDC124	19	18054506	Silent	SNP	C	TCGA-CJ-5681-01A-11D-1534-10		18054506	41074477	23	29435											
LILRB1	10859	broad.mit.edu;hgsc.bcm.edu	37	19	55143551	55143551	+	Missense_Mutation	SNP	G	G	A	rs112916853	byFrequency	TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr19:55143551G>A	ENST00000396331.1	+	6	881	c.524G>A	c.(523-525)cGt>cAt	p.R175H	LILRB1_ENST00000448689.1_Missense_Mutation_p.R175H|LILRB1_ENST00000396321.2_Missense_Mutation_p.R175H|LILRB1_ENST00000418536.2_Missense_Mutation_p.R175H|LILRB1_ENST00000396327.3_Missense_Mutation_p.R175H|LILRB1_ENST00000396315.1_Missense_Mutation_p.R175H|LILRB1_ENST00000396332.4_Missense_Mutation_p.R175H|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000434867.2_Missense_Mutation_p.R175H|LILRB1_ENST00000396317.1_Missense_Mutation_p.R175H|LILRB1_ENST00000427581.2_Missense_Mutation_p.R211H|LILRB1_ENST00000324602.7_Missense_Mutation_p.R175H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	175	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.R175H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCCATGCCCGTGGGTCGTCC	0.577										HNSCC(37;0.09)																																						1	Substitution - Missense(1)	kidney(1)											137	131	133					19																	55143551		2203	4300	6503	SO:0001583	missense	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.524G>A	19.37:g.55143551G>A	ENSP00000379622:p.Arg175His		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	g	4.485	0.089986	0.08632	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.03441	3.93;3.93;3.93;3.93;3.93;3.93;3.93;3.93;3.93;3.93;3.93	1.48	-2.96	0.05547	Immunoglobulin-like fold (1);	2.505650	0.01251	N	0.008883	T	0.03695	0.0105	L	0.37630	1.12	0.09310	N	1	B;B;B;B;B	0.14012	0.009;0.002;0.003;0.001;0.006	B;B;B;B;B	0.09377	0.002;0.002;0.004;0.002;0.004	T	0.39840	-0.9594	10	0.40728	T	0.16	.	3.5547	0.07860	0.4806:0.2081:0.3112:0.0	.	175;175;175;175;175	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	H	175;175;175;175;175;175;175;175;211;175;175	ENSP00000379614:R175H;ENSP00000391514:R175H;ENSP00000409968:R175H;ENSP00000379622:R175H;ENSP00000379618:R175H;ENSP00000315997:R175H;ENSP00000405243:R175H;ENSP00000379623:R175H;ENSP00000395004:R211H;ENSP00000379610:R175H;ENSP00000379608:R175H	ENSP00000315997:R175H	R	+	2	0	LILRB1	59835363	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.471000	0.00990	-1.525000	0.01762	-1.139000	0.01908	CGT		0.577	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			A	55143551	G	A	55143551	3	1	547	1	0	0	0	0	1	0	0	0	8792	1145	40	1	538	1	LILRB1	19	55143551	Missense_Mutation	SNP	G	TCGA-CJ-5681-01A-11D-1534-10	37089045	55143551	3985432	24	29436											
RBM39	9584	broad.mit.edu;ucsc.edu	37	20	34319917	34319917	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr20:34319917C>T	ENST00000253363.6	-	4	265	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	RBM39_ENST00000361162.6_Missense_Mutation_p.R81Q|RBM39_ENST00000528062.3_Missense_Mutation_p.R81Q|RBM39_ENST00000407261.4_5'UTR			Q14498	RBM39_HUMAN	RNA binding motif protein 39	81	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R81Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TGAGCGGCTCCGTCGCCTCTC	0.438																																																1	Substitution - Missense(1)	kidney(1)											182	175	177					20																	34319917		2203	4300	6503	SO:0001583	missense	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.242G>A	20.37:g.34319917C>T	ENSP00000253363:p.Arg81Gln		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.3|24.3	4.515348|4.515348	0.85389|0.85389	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000426951|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927	.|T;T;T;T;T;T	.|0.64260	.|2.7;2.7;-0.09;1.99;1.99;0.22	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.054440	.|0.64402	.|D	.|0.000001	T|T	0.60625|0.60625	0.2283|0.2283	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.32731	.|0.196;0.196;0.296;0.196;0.382	.|B;B;B;B;B	.|0.25291	.|0.016;0.027;0.059;0.027;0.027	T|T	0.63211|0.63211	-0.6688|-0.6688	5|10	.|0.54805	.|T	.|0.06	.|.	13.4701|13.4701	0.61278|0.61278	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	.|81;81;81;81;57	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	R|Q	69|81	.|ENSP00000253363:R81Q;ENSP00000354437:R81Q;ENSP00000436747:R81Q;ENSP00000363150:R81Q;ENSP00000406801:R81Q;ENSP00000393493:R81Q	.|ENSP00000253363:R81Q	G|R	-|-	1|2	0|0	RBM39|RBM39	33783331|33783331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	5.561000|5.561000	0.67339|0.67339	2.789000|2.789000	0.95967|0.95967	0.651000|0.651000	0.88453|0.88453	GGA|CGG		0.438	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		T	34319917	C	T	34319917	3	4	547	1	0	0	0	0	1	0	0	0	13139	652	23	1	1406	1	RBM39	20	34319917	Missense_Mutation	SNP	C	TCGA-CJ-5681-01A-11D-1534-10		34319917	28705603	25	29437											
NEFH	4744	hgsc.bcm.edu	37	22	29885580	29885581	+	In_Frame_Ins	INS	-	-	AGGCCAAGTCCCCTGAGA	rs200984527|rs267607533		TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chr22:29885580_29885581insAGGCCAAGTCCCCTGAGA	ENST00000310624.6	+	4	1984_1985	c.1951_1952insAGGCCAAGTCCCCTGAGA	c.(1951-1953)aag>aAGGCCAAGTCCCCTGAGAag	p.651_651K>KAKSPEK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	657	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCCCCTGAGAAGGCCAAGTCC	0.569																																																0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	Exception_encountered	22.37:g.29885580_29885581insAGGCCAAGTCCCCTGAGA	ENSP00000311997:p.AlaLysSerProGluLys657dup		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		AGGCCAAGTCCCCTGAGA	29885581	-	AGGCCAAGTCCCCTGAGA	29885580	7	5	547	1	0	1	1	0	0	0	0	0	10316	247	9	0	1965	0	NEFH	22	29885580	In_Frame_Ins	INS	-	TCGA-CJ-5681-01A-11D-1534-10		29885580	21418986	26	29438											
RGAG1	57529	hgsc.bcm.edu	37	X	109696032	109696032	+	Silent	SNP	A	A	G			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chrX:109696032A>G	ENST00000465301.2	+	3	2433	c.2187A>G	c.(2185-2187)ggA>ggG	p.G729G	RGAG1_ENST00000540313.1_Silent_p.G729G	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	729										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGATCCTGGAGGGATGTCCA	0.522																																																0													142	119	126					X																	109696032		2203	4300	6503	SO:0001819	synonymous_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2187A>G	X.37:g.109696032A>G			Q9P2M8	Silent	SNP	ENST00000465301.2	37	CCDS14552.1																																																																																				0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		G	109696032	A	G	109696032	2	3	547	1	0	0	0	0	0	0	0	1	13280	291	11	3		3	RGAG1	23	109696032	Silent	SNP	A	TCGA-CJ-5681-01A-11D-1534-10		109696032	45574528	27	29439											
AFF2	2334	broad.mit.edu;ucsc.edu	37	X	148037884	148037884	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chrX:148037884C>T	ENST00000370460.2	+	11	2788	c.2309C>T	c.(2308-2310)tCc>tTc	p.S770F	AFF2_ENST00000342251.3_Missense_Mutation_p.S737F|AFF2_ENST00000370457.5_Missense_Mutation_p.S737F|AFF2_ENST00000286437.5_Missense_Mutation_p.S411F	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	770					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.S770F(2)|p.S411F(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACAACTTATCCATCAGTAAT	0.453																																																3	Substitution - Missense(3)	kidney(3)											105	93	97					X																	148037884		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2309C>T	X.37:g.148037884C>T	ENSP00000359489:p.Ser770Phe		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458242	0.26161	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.63	4.74	0.60224	.	1.500750	0.03598	N	0.233000	T	0.72260	0.3438	L	0.55990	1.75	0.09310	N	1	P;P;P;P;P;P	0.37612	0.602;0.547;0.547;0.547;0.547;0.602	P;B;B;B;B;P	0.48524	0.58;0.444;0.444;0.444;0.444;0.58	T	0.57911	-0.7729	10	0.72032	D	0.01	.	11.1182	0.48273	0.1436:0.7209:0.1355:0.0	.	411;735;737;731;760;770	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	F	770;737;737;411	ENSP00000359489:S770F;ENSP00000359486:S737F;ENSP00000345459:S737F;ENSP00000286437:S411F	ENSP00000286437:S411F	S	+	2	0	AFF2	147845584	0.065000	0.20965	0.012000	0.15200	0.324000	0.28378	2.798000	0.47884	1.087000	0.41251	0.600000	0.82982	TCC		0.453	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		T	148037884	C	T	148037884	3	4	547	1	0	0	0	0	1	0	0	0	357	855	30	2	2406	2	AFF2	23	148037884	Missense_Mutation	SNP	C	TCGA-CJ-5681-01A-11D-1534-10	38341852	148037884	7232676	28	29440											
ZNF185	7739	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	152086678	152086678	+	Silent	SNP	C	C	T			TCGA-CJ-5681-01A-11D-1534-10	TCGA-CJ-5681-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9ae0744a-9bc1-4cd7-b7cf-c6569ed9e4aa	18405e90-5663-4bf6-a93e-eb84613a8d4c	g.chrX:152086678C>T	ENST00000370268.4	+	6	448	c.411C>T	c.(409-411)acC>acT	p.T137T	ZNF185_ENST00000370270.2_Silent_p.T137T|ZNF185_ENST00000539731.1_Silent_p.T137T|ZNF185_ENST00000324823.6_Silent_p.T2T|ZNF185_ENST00000535861.1_Silent_p.T137T|ZNF185_ENST00000318529.8_Silent_p.T2T|ZNF185_ENST00000318504.7_Silent_p.T137T|ZNF185_ENST00000449285.2_Silent_p.T137T			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	137						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.T137T(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAGATGACCACTGAGGATT	0.557																																																1	Substitution - coding silent(1)	kidney(1)											58	62	60					X																	152086678		2074	4178	6252	SO:0001819	synonymous_variant	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.411C>T	X.37:g.152086678C>T			A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Silent	SNP	ENST00000370268.4	37	CCDS48184.1																																																																																				0.557	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		T	152086678	C	T	152086678	2	4	547	1	0	0	0	0	0	0	0	1	17757	581	21	2		2	ZNF185	23	152086678	Silent	SNP	C	TCGA-CJ-5681-01A-11D-1534-10	4048794	152086678	3183882	29	29441											
PTCHD2	57540	broad.mit.edu;hgsc.bcm.edu	37	1	11579864	11579864	+	Silent	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:11579864C>T	ENST00000294484.6	+	9	2265	c.2127C>T	c.(2125-2127)ctC>ctT	p.L709L	PTCHD2_ENST00000389575.3_Silent_p.L709L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	709					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.L926L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCGGCCATCTCATCGTGCAGC	0.677																																																1	Substitution - coding silent(1)	kidney(1)											53	65	61					1																	11579864		2098	4214	6312	SO:0001819	synonymous_variant	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2127C>T	1.37:g.11579864C>T			Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	CCDS41247.1																																																																																				0.677	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		T	11579864	C	T	11579864	2	4	548	1	0	0	0	0	0	0	0	1	12738	813	29	2		2	PTCHD2	1	11579864	Silent	SNP	C	TCGA-CJ-5682-01A-11D-1534-10		11579864	237670757	1	29442											
ZBTB40	9923	broad.mit.edu;ucsc.edu	37	1	22843894	22843894	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:22843894A>G	ENST00000375647.4	+	13	2977	c.2770A>G	c.(2770-2772)Aga>Gga	p.R924G	ZBTB40-IT1_ENST00000438551.1_RNA|ZBTB40_ENST00000404138.1_Missense_Mutation_p.R924G|ZBTB40_ENST00000374651.4_Missense_Mutation_p.R812G	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	924					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R924G(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTATGTCTGCAGAGACTGTGG	0.547																																																1	Substitution - Missense(1)	kidney(1)											98	86	90					1																	22843894		2203	4300	6503	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2770A>G	1.37:g.22843894A>G	ENSP00000364798:p.Arg924Gly		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886524	0.33348	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.14766	2.48;2.48;2.48	5.79	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000028	T	0.18045	0.0433	N	0.11870	0.19	0.51767	D	0.999938	D;D	0.76494	0.997;0.999	P;D	0.68943	0.844;0.961	T	0.06215	-1.0839	10	0.66056	D	0.02	-21.8358	11.6584	0.51332	0.4709:0.5291:0.0:0.0	.	812;924	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	G	924;924;812	ENSP00000384527:R924G;ENSP00000364798:R924G;ENSP00000363782:R812G	ENSP00000363782:R812G	R	+	1	2	ZBTB40	22716481	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	1.102000	0.31050	0.998000	0.38996	0.533000	0.62120	AGA		0.547	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		G	22843894	A	G	22843894	3	3	548	1	0	0	0	0	1	0	0	0	17547	180	7	3	2816	3	ZBTB40	1	22843894	Missense_Mutation	SNP	A	TCGA-CJ-5682-01A-11D-1534-10	11264030	22843894	226406727	2	29443											
CDC14A	8556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100964518	100964518	+	Silent	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:100964518A>G	ENST00000336454.3	+	15	1810	c.1455A>G	c.(1453-1455)ctA>ctG	p.L485L	CDC14A_ENST00000542213.1_Silent_p.L427L|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000544534.1_Silent_p.L485L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	485					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L485L(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CCAGTTCTCTAGGGAACTTGA	0.463																																																1	Substitution - coding silent(1)	kidney(1)											54	55	54					1																	100964518		2203	4300	6503	SO:0001819	synonymous_variant	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1455A>G	1.37:g.100964518A>G			A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	CCDS769.1																																																																																				0.463	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		G	100964518	A	G	100964518	2	3	548	1	0	0	0	0	0	0	0	1	3058	407	15	3		3	CDC14A	1	100964518	Silent	SNP	A	TCGA-CJ-5682-01A-11D-1534-10	78120624	100964518	148286103	3	29444											
ATP1A1	476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	116939249	116939249	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:116939249C>G	ENST00000295598.5	+	14	2118	c.1866C>G	c.(1864-1866)atC>atG	p.I622M	ATP1A1_ENST00000537345.1_Missense_Mutation_p.I622M|ATP1A1_ENST00000369496.4_Missense_Mutation_p.I591M	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	622					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.I622M(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	ACCATCCAATCACAGCTAAAG	0.463																																																1	Substitution - Missense(1)	kidney(1)											146	126	133					1																	116939249		2203	4300	6503	SO:0001583	missense	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1866C>G	1.37:g.116939249C>G	ENSP00000295598:p.Ile622Met		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933262	0.73442	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.95949	-3.86;-3.86;-3.86	5.14	4.2	0.49525	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.78049	2.395	0.80722	D	1	P;P	0.45986	0.87;0.751	D;D	0.66979	0.944;0.948	D	0.97464	1.0036	10	0.87932	D	0	.	12.9269	0.58264	0.0:0.9188:0.0:0.0812	.	622;622	F5H3A1;P05023	.;AT1A1_HUMAN	M	622;622;621;591	ENSP00000295598:I622M;ENSP00000445306:I622M;ENSP00000358508:I591M	ENSP00000295598:I622M	I	+	3	3	ATP1A1	116740772	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	2.097000	0.41748	1.325000	0.45301	0.467000	0.42956	ATC		0.463	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		G	116939249	C	G	116939249	3	3	548	1	0	0	0	0	1	0	0	0	1128	816	29	4	1936	4	ATP1A1	1	116939249	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	15974731	116939249	132311372	4	29445											
THEM5	284486	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151824751	151824751	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:151824751C>A	ENST00000368817.5	-	2	439	c.308G>T	c.(307-309)gGa>gTa	p.G103V	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	103					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.G103V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AACTGCCAGTCCAGATGGGAG	0.532																																																1	Substitution - Missense(1)	kidney(1)											123	105	112					1																	151824751		2203	4300	6503	SO:0001583	missense	284486			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.308G>T	1.37:g.151824751C>A	ENSP00000357807:p.Gly103Val		Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	CCDS1005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.10|11.10	1.538231|1.538231	0.27475|0.27475	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000453881|ENST00000368817	.|T	.|0.21734	.|1.99	4.75|4.75	-1.99|-1.99	0.07457|0.07457	.|.	.|0.868802	.|0.09818	.|N	.|0.751854	T|T	0.05593|0.05593	0.0147|0.0147	L|L	0.57536|0.57536	1.79|1.79	0.19945|0.19945	N|N	0.999941|0.999941	.|B	.|0.25772	.|0.134	.|B	.|0.20577	.|0.03	T|T	0.38134|0.38134	-0.9675|-0.9675	5|10	.|0.44086	.|T	.|0.13	-0.1297|-0.1297	1.1941|1.1941	0.01871|0.01871	0.1399:0.3317:0.2734:0.255|0.1399:0.3317:0.2734:0.255	.|.	.|103	.|Q8N1Q8	.|THEM5_HUMAN	Y|V	50|103	.|ENSP00000357807:G103V	.|ENSP00000357807:G103V	D|G	-|-	1|2	0|0	THEM5|THEM5	150091375|150091375	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.380000|-0.380000	0.07427|0.07427	-0.270000|-0.270000	0.09285|0.09285	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.532	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		A	151824751	C	A	151824751	3	1	548	1	0	0	0	0	1	0	0	0	15864	855	30	4	455	4	THEM5	1	151824751	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	34885502	151824751	97425870	5	29446											
NOS1AP	9722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	162324998	162324999	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:162324998_162324999insGG	ENST00000361897.5	+	7	1019_1020	c.617_618insGG	c.(616-621)gagaggfs	p.R207fs	NOS1AP_ENST00000530878.1_Frame_Shift_Ins_p.R202fs	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	207					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ACTGGAGCCGAGAGGGCCTCCA	0.554																																																0																																										SO:0001589	frameshift_variant	9722			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	Exception_encountered	1.37:g.162324998_162324999insGG	ENSP00000355133:p.Arg207fs		B7ZLF5|O43564|Q3T551|Q5VU95	Frame_Shift_Ins	INS	ENST00000361897.5	37	CCDS1237.1																																																																																				0.554	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		GG	162324999	-	GG	162324998	7	5	548	1	0	1	1	0	0	0	0	0	10544	304	11	0	643	0	NOS1AP	1	162324998	Frame_Shift_Ins	INS	-	TCGA-CJ-5682-01A-11D-1534-10	10500247	162324998	86925623	6	29447											
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237664189	237664189	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:237664189C>G	ENST00000366574.2	+	21	2699	c.2382C>G	c.(2380-2382)ttC>ttG	p.F794L	RYR2_ENST00000542537.1_Missense_Mutation_p.F778L|RYR2_ENST00000360064.6_Missense_Mutation_p.F792L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	794	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.F792L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCGTTAGTTTCTCTGCAGGAA	0.423																																																1	Substitution - Missense(1)	kidney(1)											211	190	196					1																	237664189		1891	4106	5997	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2382C>G	1.37:g.237664189C>G	ENSP00000355533:p.Phe794Leu		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776649	0.49786	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.61859	0.07;0.07;0.07	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000002	T	0.61615	0.2361	L	0.28115	0.83	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.53940	-0.8367	10	0.16896	T	0.51	.	13.6254	0.62161	0.0:0.9297:0.0:0.0702	.	794	Q92736	RYR2_HUMAN	L	794;792;778	ENSP00000355533:F794L;ENSP00000353174:F792L;ENSP00000443798:F778L	ENSP00000353174:F792L	F	+	3	2	RYR2	235730812	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.675000	0.46875	2.835000	0.97688	0.650000	0.86243	TTC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237664189	C	G	237664189	3	3	548	1	0	0	0	0	1	0	0	0	13775	912	32	4	2464	4	RYR2	1	237664189	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	75339191	237664189	11586432	7	29448											
ALK	238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29455209	29455209	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr2:29455209A>G	ENST00000389048.3	-	15	3499	c.2593T>C	c.(2593-2595)Tcc>Ccc	p.S865P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	865	Gly-rich.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S865P(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGAACCGAGGAGTTATTCTCC	0.627			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	1	Substitution - Missense(1)	kidney(1)											109	99	103					2																	29455209		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2593T>C	2.37:g.29455209A>G	ENSP00000373700:p.Ser865Pro		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060974	0.55432	.	.	ENSG00000171094	ENST00000389048	T	0.77750	-1.12	5.41	5.41	0.78517	.	0.000000	0.47852	D	0.000210	T	0.69187	0.3083	L	0.41236	1.265	0.80722	D	1	B	0.15719	0.014	B	0.25140	0.058	T	0.63479	-0.6628	9	.	.	.	.	11.2407	0.48968	0.8631:0.0:0.0:0.1369	.	865	Q9UM73	ALK_HUMAN	P	865	ENSP00000373700:S865P	.	S	-	1	0	ALK	29308713	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.359000	0.52292	2.050000	0.60909	0.454000	0.30748	TCC		0.627	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		G	29455209	A	G	29455209	3	3	548	1	0	0	0	0	1	0	0	0	525	304	11	3	2329	3	ALK	2	29455209	Missense_Mutation	SNP	A	TCGA-CJ-5682-01A-11D-1534-10		29455209	213744164	8	29449											
EPB41L5	57669	hgsc.bcm.edu;ucsc.edu	37	2	120847955	120847966	+	In_Frame_Del	DEL	ACTGGATCATCC	ACTGGATCATCC	-	rs553715778		TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	ACTGGATCATCC	ACTGGATCATCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr2:120847955_120847966delACTGGATCATCC	ENST00000263713.5	+	12	1120_1131	c.906_917delACTGGATCATCC	c.(904-918)agactggatcatcca>aga	p.LDHP303del	EPB41L5_ENST00000443902.2_In_Frame_Del_p.LDHP303del|EPB41L5_ENST00000452780.1_In_Frame_Del_p.LDHP303del|EPB41L5_ENST00000443124.1_In_Frame_Del_p.LDHP303del|EPB41L5_ENST00000331393.4_In_Frame_Del_p.LDHP303del	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	303	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTGTCTTTAGACTGGATCATCCAAAAGCATGC	0.382																																																0																																										SO:0001651	inframe_deletion	57669			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.906_917delACTGGATCATCC	2.37:g.120847955_120847966delACTGGATCATCC	ENSP00000263713:p.Leu303_Pro306del		Q7Z5S1|Q8IZ12|Q9H975	In_Frame_Del	DEL	ENST00000263713.5	37	CCDS2130.1																																																																																				0.382	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		-	120847966	ACTGGATCATCC	-	120847955	7	5	548	1	0	1	0	1	0	0	0	0	5159	272	10	0	948	0	EPB41L5	2	120847955	In_Frame_Del	DEL	ACTGGATCATCC	TCGA-CJ-5682-01A-11D-1534-10	91392746	120847955	122351418	9	29450											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179631234	179631234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr2:179631234G>A	ENST00000591111.1	-	41	9801	c.9577C>T	c.(9577-9579)Cga>Tga	p.R3193*	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R3147*|TTN_ENST00000360870.5_Nonsense_Mutation_p.R3193*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R3147*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R3147*|TTN_ENST00000589042.1_Nonsense_Mutation_p.R3193*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R3193*			Q8WZ42	TITIN_HUMAN	titin	13523					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)	p.R3147*(6)|p.R3193*(5)		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)			TATTTGTGTCGTTCTTGAACT	0.423																																																11	Substitution - Nonsense(11)	kidney(6)|large_intestine(5)											158	144	149					2																	179631234		2203	4300	6503	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9577C>T	2.37:g.179631234G>A	ENSP00000465570:p.Arg3193*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	50	17.231516	0.99882	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.7	0.593	0.17478	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6254	0.91336	0.0:0.0:0.226:0.774	.	.	.	.	X	3193;3147;3147;3147;3147;3193	.	ENSP00000340554:R3147X	R	-	1	2	TTN	179339479	0.965000	0.33210	0.977000	0.42913	0.514000	0.34195	0.588000	0.23924	-0.172000	0.10779	-2.591000	0.00164	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179631234	G	A	179631234	4	1	548	1	0	0	0	0	0	1	0	0	16740	1153	40	1	101699	1	TTN	2	179631234	Nonsense_Mutation	SNP	G	TCGA-CJ-5682-01A-11D-1534-10	58783279	179631234	63568139	10	29451											
DNPEP	23549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	2	220239735	220239736	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr2:220239735_220239736CC>AA	ENST00000273075.4	-	14	1468_1469	c.1248_1249GG>TT	c.(1246-1251)atGGtc>atTTtc	p.416_417MV>IF	DNPEP_ENST00000373972.1_Missense_Mutation_p.341_342MV>IF|DNPEP_ENST00000523282.1_Missense_Mutation_p.424_425MV>IF|DNPEP_ENST00000490371.1_5'UTR	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	406					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V417F(1)|p.M416I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATTCCGGACCATGAGATCCT	0.579																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	23549				CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1248_1249delinsAA	2.37:g.220239735_220239736delinsAA	ENSP00000273075:p.M416_V417delinsIF		Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	CCDS42823.1																																																																																				0.579	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		AA	220239736	CC	AA	220239735	3	1	548	1	0	0	0	0	1	0	0	0	4681	507	18	4	216	4	DNPEP	2	220239735	Missense_Mutation	DNP	CC	TCGA-CJ-5682-01A-11D-1534-10	40608501	220239735	22959638	11	29452											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47098903	47098903	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:47098903A>T	ENST00000409792.3	-	15	6413	c.6371T>A	c.(6370-6372)tTg>tAg	p.L2124*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2124					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.L1621*(1)|p.L2124*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTGCTCAAACAACTTCCGGCG	0.428			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											98	96	97					3																	47098903		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6371T>A	3.37:g.47098903A>T	ENSP00000386759:p.Leu2124*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	46	12.877541	0.99703	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	4.98	4.98	0.66077	.	0.000000	0.46145	D	0.000304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.118	0.72419	1.0:0.0:0.0:0.0	.	.	.	.	X	2124	.	ENSP00000386759:L2124X	L	-	2	0	SETD2	47073907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.675000	0.91195	2.224000	0.72417	0.533000	0.62120	TTG		0.428	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		T	47098903	A	T	47098903	4	4	548	1	0	0	0	0	0	1	0	0	14137	131	5	5	1351	5	SETD2	3	47098903	Nonsense_Mutation	SNP	A	TCGA-CJ-5682-01A-11D-1534-10		47098903	150923527	12	29453											
TREX1	11277	broad.mit.edu;hgsc.bcm.edu	37	3	48508682	48508682	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:48508682T>C	ENST00000422277.2	+	1	1454	c.793T>C	c.(793-795)Tgg>Cgg	p.W265R	TREX1_ENST00000456089.1_Missense_Mutation_p.W71R|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000433541.1_Missense_Mutation_p.W71R|TREX1_ENST00000436480.2_Missense_Mutation_p.W210R|TREX1_ENST00000296443.9_Missense_Mutation_p.W210R|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000444177.1_Missense_Mutation_p.W200R	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	265					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)	p.W265R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CATCTGTCAGTGGAGACCACA	0.627																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CI075706	TREX1	I	rs78948846						72	61	64					3																	48508682		2203	4300	6503	SO:0001583	missense	11277			AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"Aicardi-Goutieres syndrome 1"	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.793T>C	3.37:g.48508682T>C	ENSP00000390478:p.Trp265Arg		B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894224	0.52121	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.24	4.03	0.46877	Ribonuclease H-like (1);	0.728399	0.11696	U	0.538389	D	0.96112	0.8733	M	0.65975	2.015	0.29868	N	0.827082	D	0.76494	0.999	D	0.72625	0.978	D	0.91325	0.5085	10	0.25106	T	0.35	.	11.4474	0.50131	0.0:0.0:0.1608:0.8392	.	265	Q9NSU2	TREX1_HUMAN	R	210;71;210;265;200;71	ENSP00000296443:W210R;ENSP00000412404:W71R;ENSP00000392569:W210R;ENSP00000390478:W265R;ENSP00000415972:W200R;ENSP00000411331:W71R	ENSP00000296443:W210R	W	+	1	0	TREX1	48483686	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	0.699000	0.25586	1.967000	0.57214	0.459000	0.35465	TGG		0.627	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		C	48508682	T	C	48508682	3	2	548	1	0	0	0	0	1	0	0	0	16481	1696	59	3	795	3	TREX1	3	48508682	Missense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10	1409779	48508682	149513748	13	29454											
DNAH1	25981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52402795	52402795	+	Missense_Mutation	SNP	C	C	A	rs370590676		TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:52402795C>A	ENST00000420323.2	+	37	6065	c.5804C>A	c.(5803-5805)gCc>gAc	p.A1935D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1935	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1935D(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGGCGGGGGCCATCACCTCC	0.582																																																2	Substitution - Missense(2)	kidney(2)						C	ASP/ALA	0,4120		0,0,2060	134	140	138		5804	4.9	0.5	3		138	1,8389		0,1,4194	no	missense	DNAH1	NM_015512.4	126	0,1,6254	AA,AC,CC		0.0119,0.0,0.0080	probably-damaging	1935/4266	52402795	1,12509	2060	4195	6255	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5804C>A	3.37:g.52402795C>A	ENSP00000401514:p.Ala1935Asp		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132421	0.56828	0.0	1.19E-4	ENSG00000114841	ENST00000420323	T	0.38560	1.13	4.93	4.93	0.64822	.	0.156225	0.29473	N	0.012047	T	0.72581	0.3478	M	0.93808	3.46	0.58432	D	0.999999	D	0.53151	0.958	D	0.63283	0.913	T	0.80712	-0.1260	10	0.72032	D	0.01	.	18.3341	0.90282	0.0:1.0:0.0:0.0	.	1935	C9JXH6	.	D	1935	ENSP00000401514:A1935D	ENSP00000401514:A1935D	A	+	2	0	DNAH1	52377835	0.998000	0.40836	0.497000	0.27552	0.027000	0.11550	3.842000	0.55858	2.567000	0.86603	0.563000	0.77884	GCC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		A	52402795	C	A	52402795	3	1	548	1	0	0	0	0	1	0	0	0	4599	739	26	4	5946	4	DNAH1	3	52402795	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	3894113	52402795	145619635	14	29455											
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52598080	52598080	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:52598080T>G	ENST00000296302.7	-	23	3862	c.3861A>C	c.(3859-3861)gaA>gaC	p.E1287D	PBRM1_ENST00000394830.3_Missense_Mutation_p.E1262D|PBRM1_ENST00000337303.4_Missense_Mutation_p.E1287D|PBRM1_ENST00000409114.3_Missense_Mutation_p.E1302D|PBRM1_ENST00000410007.1_Missense_Mutation_p.E1262D|PBRM1_ENST00000409057.1_Missense_Mutation_p.E1287D|PBRM1_ENST00000409767.1_Missense_Mutation_p.E1302D|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Missense_Mutation_p.E1255D			Q86U86	PB1_HUMAN	polybromo 1	1287			E -> Q (found in a breast cancer cell line). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E1287D(2)|p.E1255_I1256>V(1)|p.E1287_I1288>V(1)|p.E1255D(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTAGTAAATTTCATCATCTA	0.353			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	5	Substitution - Missense(3)|Complex - deletion inframe(2)	kidney(5)											92	91	91					3																	52598080		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3861A>C	3.37:g.52598080T>G	ENSP00000296302:p.Glu1287Asp		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	15.71	2.913645	0.52439	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	T;T;T;T;T;T;T;T;T	0.59083	0.3;0.86;0.29;0.31;0.3;0.83;0.75;0.33;0.32	5.32	1.71	0.24356	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.69358	2.11	0.45502	D	0.998468	D;D;D;D;D;D;D;D	0.76494	0.996;0.99;0.994;0.99;0.999;0.999;0.996;0.99	D;D;D;D;D;D;D;D	0.79784	0.987;0.961;0.979;0.98;0.993;0.991;0.987;0.98	T	0.66630	-0.5875	10	0.87932	D	0	-15.2979	8.0676	0.30669	0.0:0.3004:0.0:0.6996	.	1262;1262;1287;1302;1302;1287;1255;1287	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	D	1255;1262;1287;1287;1287;1262;1302;1302;1286	ENSP00000349213:E1255D;ENSP00000378307:E1262D;ENSP00000296302:E1287D;ENSP00000338302:E1287D;ENSP00000386593:E1287D;ENSP00000386529:E1262D;ENSP00000386643:E1302D;ENSP00000386601:E1302D;ENSP00000387775:E1286D	ENSP00000296302:E1287D	E	-	3	2	PBRM1	52573120	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.794000	0.26958	0.063000	0.16370	0.533000	0.62120	GAA		0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		G	52598080	T	G	52598080	3	3	548	1	0	0	0	0	1	0	0	0	11493	1838	64	5	1071	5	PBRM1	3	52598080	Missense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10	195285	52598080	145424350	15	29456											
ROPN1B	152015	hgsc.bcm.edu;ucsc.edu	37	3	125690967	125690967	+	Missense_Mutation	SNP	G	G	T	rs368481108		TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:125690967G>T	ENST00000514116.1	+	3	385	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	ROPN1B_ENST00000504401.1_Missense_Mutation_p.A24S|ROPN1B_ENST00000511862.1_3'UTR|ROPN1B_ENST00000251776.4_Missense_Mutation_p.A24S			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	24	RIIa.				acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GTTTGCCAAAGCCGCCATTCG	0.572																																																0													43	49	47					3																	125690967		2203	4300	6503	SO:0001583	missense	152015			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"ropporin, rhophilin associated protein 1B"				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.70G>T	3.37:g.125690967G>T	ENSP00000426271:p.Ala24Ser		D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	37	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791125	0.31685	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000504401;ENST00000513830;ENST00000508088;ENST00000509879	T;T;T;T	0.77877	1.78;1.78;-1.13;-1.13	3.37	3.37	0.38596	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (1);	0.389665	0.23063	N	0.052358	T	0.76111	0.3942	M	0.79926	2.475	0.80722	D	1	B;P	0.37330	0.426;0.59	B;B	0.35278	0.187;0.199	T	0.78856	-0.2039	10	0.56958	D	0.05	-9.53	10.5983	0.45352	0.0:0.0:1.0:0.0	.	24;24	B7Z7H1;Q9BZX4	.;ROP1B_HUMAN	S	24	ENSP00000426271:A24S;ENSP00000251776:A24S;ENSP00000425548:A24S;ENSP00000423058:A24S	ENSP00000251776:A24S	A	+	1	0	ROPN1B	127173657	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	3.987000	0.56944	1.578000	0.49821	0.305000	0.20034	GCC		0.572	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		T	125690967	G	T	125690967	3	4	548	1	0	0	0	0	1	0	0	0	13530	971	34	4	72	4	ROPN1B	3	125690967	Missense_Mutation	SNP	G	TCGA-CJ-5682-01A-11D-1534-10	73092887	125690967	72331463	16	29457											
MCCC1	56922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	182740269	182740269	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:182740269A>G	ENST00000265594.4	-	16	1951	c.1805T>C	c.(1804-1806)gTt>gCt	p.V602A	MCCC1_ENST00000492597.1_Missense_Mutation_p.V493A|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_3'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	602					biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.V602A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AACTCCATTAACAGAACATTT	0.353																																																1	Substitution - Missense(1)	kidney(1)											87	86	86					3																	182740269		2203	4300	6503	SO:0001583	missense	56922			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1805T>C	3.37:g.182740269A>G	ENSP00000265594:p.Val602Ala		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962551	0.53400	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000476176	D;D;D	0.95724	-3.79;-3.73;-3.66	5.58	5.58	0.84498	.	0.347485	0.32769	N	0.005670	D	0.93566	0.7946	L	0.59436	1.845	0.80722	D	1	B;B;B	0.28820	0.156;0.224;0.012	B;B;B	0.25614	0.043;0.062;0.031	D	0.91830	0.5474	10	0.38643	T	0.18	.	15.6978	0.77515	1.0:0.0:0.0:0.0	.	555;493;602	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	A	602;493;452;555	ENSP00000265594:V602A;ENSP00000419898:V493A;ENSP00000420433:V555A	ENSP00000265594:V602A	V	-	2	0	MCCC1	184222963	1.000000	0.71417	0.211000	0.23655	0.984000	0.73092	7.438000	0.80431	2.250000	0.74265	0.533000	0.62120	GTT		0.353	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		G	182740269	A	G	182740269	3	3	548	1	0	0	0	0	1	0	0	0	9376	43	2	3	388	3	MCCC1	3	182740269	Missense_Mutation	SNP	A	TCGA-CJ-5682-01A-11D-1534-10	57049302	182740269	15282161	17	29458											
YTHDC1	91746	broad.mit.edu;ucsc.edu	37	4	69203460	69203460	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr4:69203460T>G	ENST00000344157.4	-	3	624	c.289A>C	c.(289-291)Aat>Cat	p.N97H	YTHDC1_ENST00000579690.1_Missense_Mutation_p.N97H|YTHDC1_ENST00000355665.3_Missense_Mutation_p.N97H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	97					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N97H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TATTCCTCATTTTTATACTCT	0.378																																																1	Substitution - Missense(1)	kidney(1)											168	162	164					4																	69203460		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.289A>C	4.37:g.69203460T>G	ENSP00000339245:p.Asn97His		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414063	0.42817	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.29917	1.96;1.55	5.57	4.4	0.53042	.	0.434879	0.26485	N	0.024118	T	0.33265	0.0857	N	0.19112	0.55	0.30741	N	0.74615	D;P	0.59767	0.986;0.679	D;B	0.67900	0.954;0.188	T	0.20538	-1.0272	10	0.52906	T	0.07	.	6.2371	0.20768	0.1425:0.0747:0.0:0.7828	.	97;97	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	97	ENSP00000339245:N97H;ENSP00000347888:N97H	ENSP00000339245:N97H	N	-	1	0	YTHDC1	68886055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.121000	0.50438	2.099000	0.63709	0.477000	0.44152	AAT		0.378	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		G	69203460	T	G	69203460	3	3	548	1	0	0	0	0	1	0	0	0	17501	1841	64	5	1954	5	YTHDC1	4	69203460	Missense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10		69203460	121950816	18	29459											
FSTL5	56884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	162307412	162307412	+	Silent	SNP	G	G	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr4:162307412G>A	ENST00000306100.5	-	16	2467	c.2031C>T	c.(2029-2031)gtC>gtT	p.V677V	FSTL5_ENST00000536695.1_Silent_p.V676V|FSTL5_ENST00000379164.4_Silent_p.V676V|FSTL5_ENST00000427802.2_Silent_p.V667V|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	677						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V677V(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CGTCCACCATGACCTGTGGGG	0.493																																																1	Substitution - coding silent(1)	kidney(1)											114	104	107					4																	162307412		2203	4300	6503	SO:0001819	synonymous_variant	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2031C>T	4.37:g.162307412G>A			E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	CCDS3802.1																																																																																				0.493	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		A	162307412	G	A	162307412	2	1	548	1	0	0	0	0	0	0	0	1	6082	1277	45	2		2	FSTL5	4	162307412	Silent	SNP	G	TCGA-CJ-5682-01A-11D-1534-10	93103952	162307412	28846864	19	29460											
MAP3K1	4214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	56152549	56152549	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr5:56152549T>A	ENST00000399503.3	+	2	605	c.605T>A	c.(604-606)tTg>tAg	p.L202*	snoU13_ENST00000459264.1_RNA|AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	202					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.L39*(1)|p.L202*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CACGAATGGTTGGAAAGGAGA	0.458																																																2	Substitution - Nonsense(2)	kidney(2)											124	127	126					5																	56152549		1908	4114	6022	SO:0001587	stop_gained	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.605T>A	5.37:g.56152549T>A	ENSP00000382423:p.Leu202*			Nonsense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	36	5.748917	0.96882	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1146	0.81295	0.0:0.0:0.0:1.0	.	.	.	.	X	202	.	ENSP00000382423:L202X	L	+	2	0	MAP3K1	56188306	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.817000	0.75252	2.260000	0.74910	0.528000	0.53228	TTG		0.458	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		A	56152549	T	A	56152549	4	1	548	1	0	0	0	0	0	1	0	0	9245	1821	63	5	611	5	MAP3K1	5	56152549	Nonsense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10		56152549	124762711	20	29461											
FBN2	2201	hgsc.bcm.edu;ucsc.edu	37	5	127686561	127686561	+	Splice_Site	DEL	T	T	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr5:127686561delT	ENST00000508053.1	-	27	3785	c.2811delA	c.(2809-2811)cta>ct	p.L937fs	FBN2_ENST00000262464.4_Splice_Site_p.L937fs|FBN2_ENST00000508989.1_Splice_Site_p.L904fs			P35556	FBN2_HUMAN	fibrillin 2	937	TB 4.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCTCCTACCTAGTTCACACC	0.542																																																0													42	42	42					5																	127686561		2203	4300	6503	SO:0001630	splice_region_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2812+1A>-	5.37:g.127686561delT			B4DU01|Q59ES6	Frame_Shift_Del	DEL	ENST00000508053.1	37	CCDS34222.1																																																																																				0.542	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Frame_Shift_Del	-	127686561	T	-	127686561	8	5	548	1	0	1	0	1	0	0	1	0	5705	1536	53	0	6107	0	FBN2	5	127686561	Splice_Site	DEL	T	TCGA-CJ-5682-01A-11D-1534-10	71534012	127686561	53228699	21	29462											
TCERG1	10915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145843272	145843272	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr5:145843272C>T	ENST00000296702.5	+	5	1089	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	TCERG1_ENST00000394421.2_Missense_Mutation_p.P351S	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	351	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.P351S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTACCTCAGCCAACAACAGC	0.512																																																1	Substitution - Missense(1)	kidney(1)											280	232	248					5																	145843272		2203	4300	6503	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1051C>T	5.37:g.145843272C>T	ENSP00000296702:p.Pro351Ser		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542617	0.85917	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.26660	1.86;1.72	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	L	0.43923	1.385	0.58432	D	0.999997	D;D;D	0.67145	0.993;0.996;0.993	D;D;D	0.75484	0.968;0.986;0.968	T	0.21415	-1.0246	10	0.44086	T	0.13	-11.7197	19.1351	0.93424	0.0:1.0:0.0:0.0	.	351;351;351	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	S	351	ENSP00000296702:P351S;ENSP00000377943:P351S	ENSP00000296702:P351S	P	+	1	0	TCERG1	145823465	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.876000	0.63079	2.506000	0.84524	0.563000	0.77884	CCA		0.512	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		T	145843272	C	T	145843272	3	4	548	1	0	0	0	0	1	0	0	0	15690	739	26	2	1069	2	TCERG1	5	145843272	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	18156711	145843272	35071988	22	29463											
PANK3	79646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	167993043	167993044	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr5:167993043_167993044delTG	ENST00000239231.6	-	3	925_926	c.609_610delCA	c.(607-612)gacaacfs	p.DN203fs	PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	203					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CGTTTATAGTTGTCTTTGGAAT	0.391																																																0																																										SO:0001589	frameshift_variant	79646			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.609_610delCA	5.37:g.167993043_167993044delTG	ENSP00000239231:p.Asp203fs		D3DQL1|Q53FJ9|Q7RTX4	Frame_Shift_Del	DEL	ENST00000239231.6	37	CCDS4368.1																																																																																				0.391	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		-	167993044	TG	-	167993043	7	5	548	1	0	1	0	1	0	0	0	0	11420	1812	63	0	522	0	PANK3	5	167993043	Frame_Shift_Del	DEL	TG	TCGA-CJ-5682-01A-11D-1534-10	22149771	167993043	12922217	23	29464											
ABT1	29777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	26598223	26598223	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:26598223G>T	ENST00000274849.1	+	2	354	c.323G>T	c.(322-324)gGa>gTa	p.G108V		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	108	RRM.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.G108V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TACACCGAGGGATGGGTGGAG	0.602																																																1	Substitution - Missense(1)	kidney(1)											61	56	57					6																	26598223		2203	4300	6503	SO:0001583	missense	29777			AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.323G>T	6.37:g.26598223G>T	ENSP00000274849:p.Gly108Val			Missense_Mutation	SNP	ENST00000274849.1	37	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224549	0.95139	.	.	ENSG00000146109	ENST00000274849	T	0.54479	0.57	5.23	5.23	0.72850	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.78349	0.4269	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84699	0.0727	10	0.87932	D	0	-1.7746	16.6701	0.85263	0.0:0.0:1.0:0.0	.	108	Q9ULW3	ABT1_HUMAN	V	108	ENSP00000274849:G108V	ENSP00000274849:G108V	G	+	2	0	ABT1	26706202	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.296000	0.89940	2.629000	0.89072	0.563000	0.77884	GGA		0.602	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1			T	26598223	G	T	26598223	3	4	548	1	0	0	0	0	1	0	0	0	101	1174	41	4	329	4	ABT1	6	26598223	Missense_Mutation	SNP	G	TCGA-CJ-5682-01A-11D-1534-10		26598223	144516844	24	29465											
HLA-E	3133	broad.mit.edu	37	6	30459116	30459116	+	Silent	SNP	T	T	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:30459116T>A	ENST00000376630.4	+	4	878	c.813T>A	c.(811-813)ccT>ccA	p.P271P		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	271	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)	p.P271P(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TGGTGGTGCCTTCTGGAGAGG	0.627																																																1	Substitution - coding silent(1)	kidney(1)											97	84	88					6																	30459116		1511	2707	4218	SO:0001819	synonymous_variant	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.813T>A	6.37:g.30459116T>A			Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	CCDS34379.1																																																																																				0.627	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		A	30459116	T	A	30459116	2	1	548	1	0	0	0	0	0	0	0	1	7212	1596	56	5		5	HLA-E	6	30459116	Silent	SNP	T	TCGA-CJ-5682-01A-11D-1534-10	3860893	30459116	140655951	25	29466											
PM20D2	135293	broad.mit.edu;ucsc.edu	37	6	89871594	89871594	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:89871594T>A	ENST00000275072.4	+	6	1236	c.1141T>A	c.(1141-1143)Tac>Aac	p.Y381N		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	381						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Y381N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TACTGAACAGTACACTGAAGC	0.398																																																1	Substitution - Missense(1)	kidney(1)											187	166	173					6																	89871594		2203	4300	6503	SO:0001583	missense	135293			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"&#946;-alanyl-lysine dipeptidase"	615913	"aminoacylase 1-like 2"	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.1141T>A	6.37:g.89871594T>A	ENSP00000275072:p.Tyr381Asn		B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872767	0.72180	.	.	ENSG00000146281	ENST00000275072	T	0.45668	0.89	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.45228	1.405	0.58432	D	0.99999	D	0.76494	0.999	D	0.77557	0.99	T	0.52034	-0.8629	10	0.62326	D	0.03	-9.7894	14.9828	0.71324	0.0:0.0:0.0:1.0	.	381	Q8IYS1	P20D2_HUMAN	N	381	ENSP00000275072:Y381N	ENSP00000275072:Y381N	Y	+	1	0	PM20D2	89928313	1.000000	0.71417	0.375000	0.26029	0.726000	0.41606	7.274000	0.78538	2.139000	0.66308	0.454000	0.30748	TAC		0.398	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1	NM_001010853		A	89871594	T	A	89871594	3	1	548	1	0	0	0	0	1	0	0	0	12131	1638	57	5	1163	5	PM20D2	6	89871594	Missense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10	59412478	89871594	81243473	26	29467											
RPF2	84154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	111346663	111346663	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:111346663C>T	ENST00000441448.2	+	10	891	c.799C>T	c.(799-801)Cat>Tat	p.H267Y		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	267						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.H267Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TGGAAGGATTCATATGCAGAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											84	88	87					6																	111346663		2203	4300	6503	SO:0001583	missense	84154			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"ribosomal processing factor 2 homolog (S. cerevisiae)"		"brix domain containing 1"	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.799C>T	6.37:g.111346663C>T	ENSP00000402338:p.His267Tyr		Q5VXN1|Q8N4A1	Missense_Mutation	SNP	ENST00000441448.2	37	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.997024	0.93167	.	.	ENSG00000197498	ENST00000441448	T	0.73469	-0.75	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78521	-0.2172	10	0.32370	T	0.25	-22.562	20.0693	0.97712	0.0:1.0:0.0:0.0	.	267;267	A8K800;Q9H7B2	.;RPF2_HUMAN	Y	267	ENSP00000402338:H267Y	ENSP00000402338:H267Y	H	+	1	0	RPF2	111453356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.256000	0.78350	2.758000	0.94735	0.563000	0.77884	CAT		0.363	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		T	111346663	C	T	111346663	3	4	548	1	0	0	0	0	1	0	0	0	13553	826	29	2	837	2	RPF2	6	111346663	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	21475069	111346663	59768404	27	29468											
PDE10A	10846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	165844947	165844947	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:165844947T>C	ENST00000366882.1	-	9	831	c.677A>G	c.(676-678)aAt>aGt	p.N226S	PDE10A_ENST00000354448.4_Missense_Mutation_p.N226S|PDE10A_ENST00000539869.2_Missense_Mutation_p.N236S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	226	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.N226S(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CCAGGCAAGATTTGCTGTTGC	0.353																																					Esophageal Squamous(22;308 615 5753 12038 40624)											1	Substitution - Missense(1)	kidney(1)											108	111	110					6																	165844947		2203	4300	6503	SO:0001583	missense	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.677A>G	6.37:g.165844947T>C	ENSP00000355847:p.Asn226Ser		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	T	11.96	1.795193	0.31777	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.66460	-0.21;-0.21	5.5	5.5	0.81552	GAF (2);	0.977239	0.08478	N	0.939988	T	0.65668	0.2713	L	0.44542	1.39	0.46131	D	0.99888	D;B	0.58620	0.983;0.068	P;B	0.54270	0.747;0.069	T	0.63422	-0.6641	10	0.59425	D	0.04	.	15.6089	0.76699	0.0:0.0:0.0:1.0	.	236;226	Q9ULW9;Q9Y233	.;PDE10_HUMAN	S	226;254;236;226;225	ENSP00000355847:N226S;ENSP00000346435:N226S	ENSP00000341187:N236S	N	-	2	0	PDE10A	165764937	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	5.843000	0.69424	2.082000	0.62665	0.528000	0.53228	AAT		0.353	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			C	165844947	T	C	165844947	3	2	548	1	0	0	0	0	1	0	0	0	11632	1493	52	3	1722	3	PDE10A	6	165844947	Missense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10	54498284	165844947	5270120	28	29469											
SDK1	221935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	4152925	4152925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:4152925C>T	ENST00000404826.2	+	24	3578	c.3439C>T	c.(3439-3441)Cga>Tga	p.R1147*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.R1147*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1147	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R1147*(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTTAGATTTCGAATGAAGCA	0.537																																																1	Substitution - Nonsense(1)	kidney(1)											209	221	217					7																	4152925		2203	4300	6503	SO:0001587	stop_gained	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3439C>T	7.37:g.4152925C>T	ENSP00000385899:p.Arg1147*		Q8TEN9|Q8TEP5|Q96N44	Nonsense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	43	10.362544	0.99391	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	5.22	4.25	0.50352	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.703	0.77555	0.2066:0.7934:0.0:0.0	.	.	.	.	X	1147	.	ENSP00000374182:R1147X	R	+	1	2	SDK1	4119451	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	3.566000	0.53805	2.437000	0.82529	0.655000	0.94253	CGA		0.537	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		T	4152925	C	T	4152925	4	4	548	1	0	0	0	0	0	1	0	0	13974	876	31	1	3533	1	SDK1	7	4152925	Nonsense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10		4152925	154985738	29	29470											
STK31	56164	broad.mit.edu	37	7	23827688	23827688	+	Silent	SNP	T	T	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:23827688T>C	ENST00000355870.3	+	21	2696	c.2577T>C	c.(2575-2577)aaT>aaC	p.N859N	STK31_ENST00000428484.1_Silent_p.N836N|STK31_ENST00000433467.2_Silent_p.N859N|STK31_ENST00000354639.3_Silent_p.N836N|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	859	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.N859N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCAGAACAATGTATTTGCTT	0.358																																																1	Substitution - coding silent(1)	kidney(1)											135	126	129					7																	23827688		2203	4300	6503	SO:0001819	synonymous_variant	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2577T>C	7.37:g.23827688T>C			B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	CCDS5386.1																																																																																				0.358	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		C	23827688	T	C	23827688	2	2	548	1	0	0	0	0	0	0	0	1	15301	1461	51	3		3	STK31	7	23827688	Silent	SNP	T	TCGA-CJ-5682-01A-11D-1534-10	19674763	23827688	135310975	30	29471											
TECPR1	25851	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	97851019	97851019	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:97851019C>G	ENST00000447648.2	-	23	3410	c.3111G>C	c.(3109-3111)aaG>aaC	p.K1037N	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Missense_Mutation_p.K1039N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1037					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.K1038N(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGGACACCTGCTTCAGCCTCT	0.567																																																1	Substitution - Missense(1)	kidney(1)											46	52	50					7																	97851019		2125	4263	6388	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3111G>C	7.37:g.97851019C>G	ENSP00000404923:p.Lys1037Asn		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	c	10.08	1.253419	0.22965	.	.	ENSG00000205356	ENST00000447648;ENST00000379795	D;D	0.81908	-1.55;-1.55	4.54	-0.814	0.10846	.	0.299613	0.35436	N	0.003209	T	0.78278	0.4258	M	0.86864	2.845	0.80722	D	1	P	0.44946	0.846	B	0.36289	0.221	T	0.69881	-0.5025	10	0.33940	T	0.23	-5.819	6.22	0.20675	0.0:0.4941:0.121:0.3849	.	1037	Q7Z6L1	TCPR1_HUMAN	N	1037;1039	ENSP00000404923:K1037N;ENSP00000369121:K1039N	ENSP00000369121:K1039N	K	-	3	2	TECPR1	97688955	0.603000	0.26924	0.020000	0.16555	0.215000	0.24574	-0.078000	0.11375	-0.568000	0.06038	-0.265000	0.10407	AAG		0.567	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		G	97851019	C	G	97851019	3	3	548	1	0	0	0	0	1	0	0	0	15748	796	28	4	402	4	TECPR1	7	97851019	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	74023331	97851019	61287644	31	29472											
GPR85	54329	broad.mit.edu	37	7	112724772	112724772	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:112724772G>A	ENST00000297146.3	-	3	608	c.5C>T	c.(4-6)gCg>gTg	p.A2V	GPR85_ENST00000424100.1_Missense_Mutation_p.A2V|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Missense_Mutation_p.A2V|GPR85_ENST00000449591.1_Missense_Mutation_p.A2V	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	2					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A2V(1)|p.A2G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCTATAGTTCGCCATAGATGG	0.398																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											27	27	27					7																	112724772		2203	4300	6503	SO:0001583	missense	54329			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.5C>T	7.37:g.112724772G>A	ENSP00000297146:p.Ala2Val		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278594	0.59758	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591;ENST00000449735;ENST00000438062	T;T;T;T;T	0.60797	0.55;0.55;0.55;0.55;0.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	N	0.08118	0	0.80722	D	1	P	0.43633	0.813	B	0.27715	0.082	T	0.49399	-0.8944	10	0.72032	D	0.01	.	19.7321	0.96186	0.0:0.0:1.0:0.0	.	2	P60893	GPR85_HUMAN	V	2	ENSP00000445808:A2V;ENSP00000297146:A2V;ENSP00000396763:A2V;ENSP00000401178:A2V;ENSP00000415699:A2V	ENSP00000297146:A2V	A	-	2	0	GPR85	112512008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.845000	0.99498	2.668000	0.90789	0.655000	0.94253	GCG		0.398	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			A	112724772	G	A	112724772	3	1	548	1	0	0	0	0	1	0	0	0	6717	1087	38	1	1111	1	GPR85	7	112724772	Missense_Mutation	SNP	G	TCGA-CJ-5682-01A-11D-1534-10	14873753	112724772	46413891	32	29473											
CCDC136	64753	broad.mit.edu;ucsc.edu	37	7	128457873	128457873	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:128457873C>T	ENST00000297788.4	+	17	3792	c.3425C>T	c.(3424-3426)tCg>tTg	p.S1142L	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Missense_Mutation_p.S434L|CCDC136_ENST00000487361.1_Missense_Mutation_p.S503L|CCDC136_ENST00000378685.4_Missense_Mutation_p.S422L	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1142						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S1258L(1)|p.S1142L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GTGGTCATCTCGGCTTTGCTC	0.557																																																2	Substitution - Missense(2)	kidney(2)											274	274	274					7																	128457873		2129	4239	6368	SO:0001583	missense	64753				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3425C>T	7.37:g.128457873C>T	ENSP00000297788:p.Ser1142Leu		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042343	0.55003	.	.	ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788	T;T;T;T	0.44083	0.94;0.93;0.99;1.56	4.9	4.0	0.46444	.	0.362459	0.26126	N	0.026191	T	0.31544	0.0800	L	0.50333	1.59	0.29026	N	0.88598	B;P;B	0.49961	0.194;0.93;0.045	B;B;B	0.35899	0.02;0.213;0.006	T	0.46148	-0.9212	10	0.72032	D	0.01	.	9.6842	0.40089	0.0:0.8973:0.0:0.1027	.	503;1142;422	C9JE17;Q96JN2;Q96JN2-3	.;CC136_HUMAN;.	L	422;434;503;1142	ENSP00000367956:S422L;ENSP00000419515:S434L;ENSP00000420509:S503L;ENSP00000297788:S1142L	ENSP00000297788:S1142L	S	+	2	0	CCDC136	128245109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.631000	0.37092	2.419000	0.82065	0.561000	0.74099	TCG		0.557	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		T	128457873	C	T	128457873	3	4	548	1	0	0	0	0	1	0	0	0	2772	893	31	1	3491	1	CCDC136	7	128457873	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	15733101	128457873	30680790	33	29474											
UBE2H	7328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129479130	129479130	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:129479130T>A	ENST00000355621.3	-	6	737	c.344A>T	c.(343-345)tAt>tTt	p.Y115F	UBE2H_ENST00000473814.2_Missense_Mutation_p.Y84F	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	115					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.Y115F(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					GGGGTTAGGATAGGCCAATAA	0.423																																																1	Substitution - Missense(1)	kidney(1)											145	130	135					7																	129479130		2203	4300	6503	SO:0001583	missense	7328			BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12484	protein-coding gene	gene with protein product	"GID complex subunit 3, UBC8 homolog (S. cerevisiae)"	601082	"ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)", "ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.344A>T	7.37:g.129479130T>A	ENSP00000347836:p.Tyr115Phe		A4D1L6|C9JY93|P37286|Q7Z6F4	Missense_Mutation	SNP	ENST00000355621.3	37	CCDS5814.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.000208	0.93227	.	.	ENSG00000186591	ENST00000355621;ENST00000473814;ENST00000496698	T;T;T	0.74209	1.2;-0.82;1.2	5.38	5.38	0.77491	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.87180	0.6113	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.997	D	0.89201	0.3557	10	0.72032	D	0.01	-20.7221	14.5743	0.68235	0.0:0.0:0.0:1.0	.	84;115	A4D1L6;P62256	.;UBE2H_HUMAN	F	115;84;82	ENSP00000347836:Y115F;ENSP00000419097:Y84F;ENSP00000417681:Y82F	ENSP00000347836:Y115F	Y	-	2	0	UBE2H	129266366	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.662000	0.83803	2.052000	0.61016	0.334000	0.21626	TAT		0.423	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349327.2	NM_003344		A	129479130	T	A	129479130	3	1	548	1	0	0	0	0	1	0	0	0	16863	1406	49	5	215	5	UBE2H	7	129479130	Missense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10	1021257	129479130	29659533	34	29475											
DENND3	22898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	142186848	142186848	+	Silent	SNP	C	C	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr8:142186848C>A	ENST00000262585.2	+	15	2732	c.2454C>A	c.(2452-2454)gcC>gcA	p.A818A	DENND3_ENST00000519811.1_Silent_p.A898A|DENND3_ENST00000424248.1_Silent_p.A766A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	818					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A818A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAAGCTGGCCGATGACCACA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											115	94	101					8																	142186848		2203	4300	6503	SO:0001819	synonymous_variant	22898			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2454C>A	8.37:g.142186848C>A			B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	CCDS34947.1																																																																																				0.602	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		A	142186848	C	A	142186848	2	1	548	1	0	0	0	0	0	0	0	1	4434	639	23	4		4	DENND3	8	142186848	Silent	SNP	C	TCGA-CJ-5682-01A-11D-1534-10		142186848	4177174	35	29476											
TESK1	7016	broad.mit.edu;hgsc.bcm.edu	37	9	35608911	35608911	+	Silent	SNP	G	G	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr9:35608911G>C	ENST00000336395.5	+	10	1303	c.1053G>C	c.(1051-1053)cgG>cgC	p.R351R	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	351					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R351R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGATCCCCGGCTTTCCCGAA	0.582																																																1	Substitution - coding silent(1)	kidney(1)											64	73	70					9																	35608911		2203	4300	6503	SO:0001819	synonymous_variant	7016			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1053G>C	9.37:g.35608911G>C			Q8IXZ8	Silent	SNP	ENST00000336395.5	37	CCDS6580.1																																																																																				0.582	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		C	35608911	G	C	35608911	2	2	548	1	0	0	0	0	0	0	0	1	15772	1190	42	4		4	TESK1	9	35608911	Silent	SNP	G	TCGA-CJ-5682-01A-11D-1534-10		35608911	105604520	36	29477											
SHC3	53358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	91680466	91680466	+	Silent	SNP	A	A	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr9:91680466A>C	ENST00000375835.4	-	6	1119	c.813T>G	c.(811-813)gcT>gcG	p.A271A	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	271	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.			A -> T (in Ref. 4; AAH26314). {ECO:0000305}.	central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)	p.T271T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CAGGGTCCTTAGCCACATATG	0.453																																																1	Substitution - coding silent(1)	kidney(1)											249	244	245					9																	91680466		2203	4300	6503	SO:0001819	synonymous_variant	53358			D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"SH2 domain containing"	18181	protein-coding gene	gene with protein product		605263	"src homology 2 domain containing transforming protein C3"			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.813T>G	9.37:g.91680466A>C			Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	ENST00000375835.4	37	CCDS6681.1																																																																																				0.453	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		C	91680466	A	C	91680466	2	2	548	1	0	0	0	0	0	0	0	1	14278	407	15	5		5	SHC3	9	91680466	Silent	SNP	A	TCGA-CJ-5682-01A-11D-1534-10	56071555	91680466	49532965	37	29478											
RGS3	5998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116246492	116246492	+	Silent	SNP	T	T	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr9:116246492T>C	ENST00000374140.2	+	7	809	c.600T>C	c.(598-600)gcT>gcC	p.A200A	RGS3_ENST00000350696.5_Silent_p.A200A|RGS3_ENST00000317613.6_Silent_p.A88A	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	200	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.A96A(1)|p.A88A(1)|p.A200A(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGACCCGGCTTTCCACGAGC	0.478																																																3	Substitution - coding silent(3)	kidney(3)											74	73	73					9																	116246492		2203	4300	6503	SO:0001819	synonymous_variant	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.600T>C	9.37:g.116246492T>C			A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1																																																																																				0.478	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		C	116246492	T	C	116246492	2	2	548	1	0	0	0	0	0	0	0	1	13312	1596	56	3		3	RGS3	9	116246492	Silent	SNP	T	TCGA-CJ-5682-01A-11D-1534-10	24566026	116246492	24966939	38	29479											
SUV39H2	79723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	14941580	14941580	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr10:14941580G>A	ENST00000354919.6	+	4	892	c.892G>A	c.(892-894)Gac>Aac	p.D298N	DCLRE1C_ENST00000378289.4_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.D238N|SUV39H2_ENST00000378325.3_Missense_Mutation_p.D118N	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	298	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.D298N(1)|p.D238N(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ACAGTTCTATGACAACAAGGG	0.398																																																2	Substitution - Missense(2)	kidney(2)											190	160	170					10																	14941580		2203	4300	6503	SO:0001583	missense	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.892G>A	10.37:g.14941580G>A	ENSP00000346997:p.Asp298Asn		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	CCDS53494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.438803|5.438803	0.96168|0.96168	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519|ENST00000358298	D;T;D;D|.	0.90261|.	-2.64;-1.47;-2.64;-2.64|.	5.62|5.62	5.62|5.62	0.85841|0.85841	SET domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75095|0.75095	0.3803|0.3803	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	P;B|.	0.36974|.	0.576;0.098|.	B;B|.	0.43301|.	0.415;0.074|.	T|T	0.72391|0.72391	-0.4308|-0.4308	10|5	0.56958|.	D|.	0.05|.	.|.	19.0078|19.0078	0.92859|0.92859	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	298;118|.	Q9H5I1;Q9H5I1-3|.	SUV92_HUMAN;.|.	N|I	58;118;298;238|63	ENSP00000388968:D58N;ENSP00000367576:D118N;ENSP00000346997:D298N;ENSP00000319208:D238N|.	ENSP00000319208:D238N|.	D|M	+|+	1|3	0|0	SUV39H2|SUV39H2	14981586|14981586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.813000|9.813000	0.99286|0.99286	2.809000|2.809000	0.96659|0.96659	0.557000|0.557000	0.71058|0.71058	GAC|ATG		0.398	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		A	14941580	G	A	14941580	3	1	548	1	0	0	0	0	1	0	0	0	15418	1290	45	2	718	2	SUV39H2	10	14941580	Missense_Mutation	SNP	G	TCGA-CJ-5682-01A-11D-1534-10		14941580	120593167	39	29480	210	2									
SUV39H2	79723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	14941582	14941582	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr10:14941582C>A	ENST00000354919.6	+	4	894	c.894C>A	c.(892-894)gaC>gaA	p.D298E	DCLRE1C_ENST00000378289.4_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.D238E|SUV39H2_ENST00000378325.3_Missense_Mutation_p.D118E	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	298	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.D238E(1)|p.D298E(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AGTTCTATGACAACAAGGGAA	0.398																																																2	Substitution - Missense(2)	kidney(2)											190	160	170					10																	14941582		2203	4300	6503	SO:0001583	missense	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.894C>A	10.37:g.14941582C>A	ENSP00000346997:p.Asp298Glu		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	CCDS53494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.320726|4.320726	0.81469|0.81469	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519|ENST00000358298	D;T;D;D|.	0.90197|.	-2.63;-1.45;-2.63;-2.63|.	5.62|5.62	3.74|3.74	0.42951|0.42951	SET domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58935|0.58935	0.2157|0.2157	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	B;B|.	0.29716|.	0.255;0.027|.	B;B|.	0.39068|.	0.289;0.026|.	T|T	0.56372|0.56372	-0.7990|-0.7990	10|5	0.52906|.	T|.	0.07|.	.|.	12.309|12.309	0.54918|0.54918	0.0:0.8548:0.0:0.1452|0.0:0.8548:0.0:0.1452	.|.	298;118|.	Q9H5I1;Q9H5I1-3|.	SUV92_HUMAN;.|.	E|K	58;118;298;238|64	ENSP00000388968:D58E;ENSP00000367576:D118E;ENSP00000346997:D298E;ENSP00000319208:D238E|.	ENSP00000319208:D238E|.	D|T	+|+	3|2	2|0	SUV39H2|SUV39H2	14981588|14981588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	1.219000|1.219000	0.32479|0.32479	1.514000|1.514000	0.48869|0.48869	0.557000|0.557000	0.71058|0.71058	GAC|ACA		0.398	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		A	14941582	C	A	14941582	3	1	548	1	0	0	0	0	1	0	0	0	15418	477	17	4	720	4	SUV39H2	10	14941582	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	2	14941582	120593165	40	29481	210	2									
C10orf118	55088	hgsc.bcm.edu;ucsc.edu	37	10	115917317	115917320	+	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	TTAA	TTAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr10:115917317_115917320delTTAA	ENST00000369287.3	-	3	1018_1021	c.752_755delTTAA	c.(751-756)attaaafs	p.IK251fs		NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		251										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTTTACCTGTTTAATTGTGTTCAT	0.348																																																0																																										SO:0001589	frameshift_variant	55088																														ENST00000369287.3:c.752_755delTTAA	10.37:g.115917317_115917320delTTAA	ENSP00000358293:p.Ile251fs		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Frame_Shift_Del	DEL	ENST00000369287.3	37	CCDS7587.1																																																																																				0.348	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			-	115917320	TTAA	-	115917317	7	5	548	1	0	1	0	1	0	0	0	0	1589	1841	64	0	1997	0	C10orf118	10	115917317	Frame_Shift_Del	DEL	TTAA	TCGA-CJ-5682-01A-11D-1534-10	100975735	115917317	19617430	41	29482											
ZDHHC13	54503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	19187855	19187855	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr11:19187855G>T	ENST00000446113.2	+	14	1518	c.1397G>T	c.(1396-1398)gGc>gTc	p.G466V	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.G336V	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	466					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.G336V(1)|p.G466V(1)		NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TGAGGTTTTGGCAACCATCAC	0.308																																																2	Substitution - Missense(2)	kidney(2)											160	143	148					11																	19187855		1812	4063	5875	SO:0001583	missense	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1397G>T	11.37:g.19187855G>T	ENSP00000400113:p.Gly466Val		Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	37	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467697	0.63625	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.26067	1.76;1.76	5.67	5.67	0.87782	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.321313	0.39274	N	0.001416	T	0.55800	0.1943	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.58983	-0.7539	10	0.72032	D	0.01	0.1826	17.0562	0.86534	0.0:0.0:1.0:0.0	.	466	Q8IUH4	ZDH13_HUMAN	V	466;336	ENSP00000400113:G466V;ENSP00000382288:G336V	ENSP00000382288:G336V	G	+	2	0	ZDHHC13	19144431	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	6.601000	0.74136	2.836000	0.97738	0.655000	0.94253	GGC		0.308	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		T	19187855	G	T	19187855	3	4	548	1	0	0	0	0	1	0	0	0	17608	1203	42	4	1451	4	ZDHHC13	11	19187855	Missense_Mutation	SNP	G	TCGA-CJ-5682-01A-11D-1534-10		19187855	115818661	42	29483											
OR5F1	338674	broad.mit.edu;hgsc.bcm.edu	37	11	55761854	55761854	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr11:55761854G>C	ENST00000278409.1	-	1	247	c.248C>G	c.(247-249)gCa>gGa	p.A83G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	83					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)	p.A83G(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAATAAATCTGCCAGCATCTT	0.458																																																1	Substitution - Missense(1)	kidney(1)											62	61	61					11																	55761854		2201	4296	6497	SO:0001583	missense	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.248C>G	11.37:g.55761854G>C	ENSP00000278409:p.Ala83Gly		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	4.348	0.064029	0.08388	.	.	ENSG00000149133	ENST00000278409	T	0.00392	7.58	3.03	-3.98	0.04082	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	L	0.42008	1.315	0.09310	N	1	P	0.34800	0.469	B	0.35550	0.205	T	0.23655	-1.0182	9	0.37606	T	0.19	.	6.7987	0.23738	0.1808:0.2911:0.5281:0.0	.	83	O95221	OR5F1_HUMAN	G	83	ENSP00000278409:A83G	ENSP00000278409:A83G	A	-	2	0	OR5F1	55518430	0.000000	0.05858	0.257000	0.24404	0.137000	0.21094	-4.247000	0.00266	-0.266000	0.09339	0.297000	0.19635	GCA		0.458	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		C	55761854	G	C	55761854	3	2	548	1	0	0	0	0	1	0	0	0	11160	1319	46	4	699	4	OR5F1	11	55761854	Missense_Mutation	SNP	G	TCGA-CJ-5682-01A-11D-1534-10	36573999	55761854	79244662	43	29484											
KRTAP5-11	440051	hgsc.bcm.edu	37	11	71293803	71293805	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	GCC	GCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr11:71293803_71293805delGCC	ENST00000398530.1	-	1	116_118	c.79_81delGGC	c.(79-81)ggcdel	p.G27del	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	27						keratin filament (GO:0045095)		p.G27C(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCCCCCACAGCCAGAGCCACAG	0.64																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	440051			AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"Keratin associated proteins"	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.79_81delGGC	11.37:g.71293803_71293805delGCC	ENSP00000381541:p.Gly27del			In_Frame_Del	DEL	ENST00000398530.1	37	CCDS41685.1																																																																																				0.64	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		-	71293805	GCC	-	71293803	7	5	548	1	0	1	0	1	0	0	0	0	8562	958	34	0	393	0	KRTAP5-11	11	71293803	In_Frame_Del	DEL	GCC	TCGA-CJ-5682-01A-11D-1534-10	15531949	71293803	63712713	44	29485											
ST14	6768	hgsc.bcm.edu;ucsc.edu	37	11	130069949	130069949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr11:130069949delG	ENST00000278742.5	+	16	2329	c.1911delG	c.(1909-1911)cagfs	p.Q637fs		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	637	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTCTGGGCCAGGGCCACATCT	0.627																																																0													74	63	67					11																	130069949		2201	4297	6498	SO:0001589	frameshift_variant	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1911delG	11.37:g.130069949delG	ENSP00000278742:p.Gln637fs		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Frame_Shift_Del	DEL	ENST00000278742.5	37	CCDS8487.1																																																																																				0.627	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			-	130069949	G	-	130069949	7	5	548	1	0	1	0	1	0	0	0	0	15216	991	35	0	1973	0	ST14	11	130069949	Frame_Shift_Del	DEL	G	TCGA-CJ-5682-01A-11D-1534-10	58776146	130069949	4936567	45	29486											
CD163L1	283316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7520737	7520737	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr12:7520737T>G	ENST00000313599.3	-	17	4186	c.4129A>C	c.(4129-4131)Att>Ctt	p.I1377L	CD163L1_ENST00000396630.1_Missense_Mutation_p.I1377L|CD163L1_ENST00000416109.2_Missense_Mutation_p.I1387L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1377						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.I1377L(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAAATAGAATAAACAGAACC	0.393																																																1	Substitution - Missense(1)	kidney(1)											110	108	108					12																	7520737		2203	4300	6503	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4129A>C	12.37:g.7520737T>G	ENSP00000315945:p.Ile1377Leu		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.288|6.288	0.421198|0.421198	0.11928|0.11928	.|.	.|.	ENSG00000177675|ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630|ENST00000539726	T;T;T|.	0.01516|.	4.89;4.88;4.81|.	1.52|1.52	-1.21|-1.21	0.09524|0.09524	.|.	.|.	.|.	.|.	.|.	T|T	0.13628|0.13628	0.0330|0.0330	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;P|.	0.35272|.	0.493;0.493|.	B;B|.	0.32928|.	0.107;0.155|.	T|T	0.23154|0.23154	-1.0196|-1.0196	9|5	0.07990|.	T|.	0.79|.	.|.	2.3193|2.3193	0.04207|0.04207	0.0:0.2065:0.3083:0.4851|0.0:0.2065:0.3083:0.4851	.|.	1387;1377|.	E7EVK4;Q9NR16|.	.;C163B_HUMAN|.	L|S	1377;1387;1377|32	ENSP00000315945:I1377L;ENSP00000393474:I1387L;ENSP00000379871:I1377L|.	ENSP00000315945:I1377L|.	I|Y	-|-	1|2	0|0	CD163L1|CD163L1	7412004|7412004	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.182000|0.182000	0.23217|0.23217	-0.443000|-0.443000	0.06862|0.06862	-0.350000|-0.350000	0.08262|0.08262	-0.376000|-0.376000	0.06991|0.06991	ATT|TAT		0.393	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		G	7520737	T	G	7520737	3	3	548	1	0	0	0	0	1	0	0	0	2970	1406	49	5	244	5	CD163L1	12	7520737	Missense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10		7520737	126331158	46	29487											
LRRK2	120892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	40745464	40745465	+	Missense_Mutation	DNP	CT	CT	GA			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr12:40745464_40745465CT>GA	ENST00000298910.7	+	44	6563_6564	c.6505_6506CT>GA	c.(6505-6507)CTg>GAg	p.L2169E		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2169					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.L2176V(1)|p.L2169Q(1)|p.L2169V(1)|p.L2176Q(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAGCATTTGGCTGGGCTGTGGG	0.406																																																4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	Exception_encountered	12.37:g.40745464_40745465delinsGA	ENSP00000298910:p.Leu2169Glu		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.406	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		GA	40745465	CT	GA	40745464	3	3	548	1	0	0	0	0	1	0	0	0	9035	796	28	4	6679	4	LRRK2	12	40745464	Missense_Mutation	DNP	CT	TCGA-CJ-5682-01A-11D-1534-10	33224727	40745464	93106431	47	29488											
FMNL3	91010	broad.mit.edu;hgsc.bcm.edu	37	12	50045173	50045173	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr12:50045173C>T	ENST00000293590.5	-	15	1897	c.1664G>A	c.(1663-1665)gGc>gAc	p.G555D	FMNL3_ENST00000550488.1_Missense_Mutation_p.G555D|FMNL3_ENST00000335154.5_Missense_Mutation_p.G555D|FMNL3_ENST00000352151.5_Missense_Mutation_p.G504D			Q8IVF7	FMNL3_HUMAN	formin-like 3	555					actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.G555D(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ACCTGACAGGCCCACTGTCAA	0.607																																																2	Substitution - Missense(2)	kidney(2)											32	35	34					12																	50045173		1959	4151	6110	SO:0001583	missense	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1664G>A	12.37:g.50045173C>T	ENSP00000293590:p.Gly555Asp		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	C	26.2	4.718758	0.89205	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.82893	-1.54;-1.56;-1.66;-1.55	5.25	5.25	0.73442	Actin-binding FH2 (1);	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.974;0.999;0.998	T	0.81048	-0.1109	10	0.12103	T	0.63	.	17.9715	0.89115	0.0:1.0:0.0:0.0	.	504;555;555	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	D	555;555;504;555	ENSP00000335655:G555D;ENSP00000447479:G555D;ENSP00000344311:G504D;ENSP00000293590:G555D	ENSP00000293590:G555D	G	-	2	0	FMNL3	48331440	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.239000	0.58694	2.616000	0.88540	0.655000	0.94253	GGC		0.607	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		T	50045173	C	T	50045173	3	4	548	1	0	0	0	0	1	0	0	0	5955	739	26	2	1467	2	FMNL3	12	50045173	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	9299709	50045173	83806722	48	29489											
LRP1	4035	broad.mit.edu;hgsc.bcm.edu	37	12	57588207	57588207	+	Silent	SNP	C	C	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr12:57588207C>A	ENST00000243077.3	+	49	8455	c.7989C>A	c.(7987-7989)acC>acA	p.T2663T	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2663	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.T2663T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGAGCGGACCTCACTCTGCT	0.662																																																1	Substitution - coding silent(1)	kidney(1)											88	85	86					12																	57588207		2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7989C>A	12.37:g.57588207C>A			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.662	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57588207	C	A	57588207	2	1	548	1	0	0	0	0	0	0	0	1	8953	668	24	4		4	LRP1	12	57588207	Silent	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	7543034	57588207	76263688	49	29490											
LRCH1	23143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	47279205	47279205	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr13:47279205T>C	ENST00000389798.3	+	12	1600	c.1403T>C	c.(1402-1404)tTa>tCa	p.L468S	LRCH1_ENST00000311191.6_Missense_Mutation_p.L468S|LRCH1_ENST00000389797.3_Missense_Mutation_p.L468S	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	468								p.L468S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CTCTTTAGATTAAGCACAGAT	0.274																																																2	Substitution - Missense(2)	kidney(2)											77	83	81					13																	47279205		2203	4294	6497	SO:0001583	missense	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1403T>C	13.37:g.47279205T>C	ENSP00000374448:p.Leu468Ser		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.946719	0.34377	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.56103	0.52;0.57;0.48	5.95	5.95	0.96441	.	0.236808	0.36740	N	0.002440	T	0.62780	0.2456	M	0.64997	1.995	0.40640	D	0.981936	D;P;D;B	0.63880	0.987;0.911;0.993;0.168	P;P;P;B	0.61397	0.776;0.549;0.888;0.03	T	0.60490	-0.7253	10	0.07990	T	0.79	-3.9433	13.7969	0.63177	0.0:0.0:0.0:1.0	.	468;468;468;468	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	S	468	ENSP00000308493:L468S;ENSP00000374448:L468S;ENSP00000374447:L468S	ENSP00000308493:L468S	L	+	2	0	LRCH1	46177206	1.000000	0.71417	0.912000	0.35992	0.332000	0.28634	4.796000	0.62496	2.279000	0.76181	0.533000	0.62120	TTA		0.274	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		C	47279205	T	C	47279205	3	2	548	1	0	0	0	0	1	0	0	0	8934	1764	61	3	1449	3	LRCH1	13	47279205	Missense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10		47279205	67890673	50	29491											
RNASE12	493901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21058840	21058840	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr14:21058840delC	ENST00000556526.1	-	1	142	c.43delG	c.(43-45)gaafs	p.E15fs	RNASE11_ENST00000610205.1_5'Flank|RNASE11_ENST00000398009.2_5'Flank|RP11-14J7.6_ENST00000556487.1_RNA|RNASE11_ENST00000553849.1_5'Flank|RNASE11_ENST00000398008.2_5'Flank|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000554993.1_RNA|RNASE11_ENST00000555841.1_5'Flank|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000554006.1_RNA|RNASE11_ENST00000432835.2_5'Flank|RNASE11_ENST00000555283.1_Frame_Shift_Del_p.E15fs	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	15						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		ACCTCATTTTCCCAGAACAGA	0.428																																																0													144	133	137					14																	21058840		2203	4300	6503	SO:0001589	frameshift_variant	493901				CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"Ribonucleases, RNase A"	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.43delG	14.37:g.21058840delC	ENSP00000450580:p.Glu15fs			Frame_Shift_Del	DEL	ENST00000556526.1	37	CCDS32037.1																																																																																				0.428	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411107.1			-	21058840	C	-	21058840	7	5	548	1	0	1	0	1	0	0	0	0	13408	864	30	0	404	0	RNASE12	14	21058840	Frame_Shift_Del	DEL	C	TCGA-CJ-5682-01A-11D-1534-10		21058840	86290700	51	29492											
SNRPN	6638	broad.mit.edu;hgsc.bcm.edu	37	15	25222145	25222145	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr15:25222145C>G	ENST00000400100.1	+	10	1279	c.389C>G	c.(388-390)cCt>cGt	p.P130R	SNURF_ENST00000338094.6_3'UTR|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000390687.4_Missense_Mutation_p.P130R|SNRPN_ENST00000577565.1_Missense_Mutation_p.P130R|SNRPN_ENST00000444203.2_Missense_Mutation_p.P134R|SNRPN_ENST00000400098.1_Missense_Mutation_p.P130R|SNRPN_ENST00000346403.6_Missense_Mutation_p.P130R|SNRPN_ENST00000554227.2_Missense_Mutation_p.P134R|SNRPN_ENST00000400097.1_Missense_Mutation_p.P130R|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	130					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.P130R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTGGCAGGCCCTGTCCGAGGA	0.582									Prader-Willi syndrome																																							1	Substitution - Missense(1)	kidney(1)											41	44	43					15																	25222145		1852	4093	5945	SO:0001583	missense	6638	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.389C>G	15.37:g.25222145C>G	ENSP00000382972:p.Pro130Arg		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018398	0.75275	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	3.78	3.78	0.43462	.	0.118990	0.64402	D	0.000018	T	0.67011	0.2848	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.74337	-0.3698	10	0.87932	D	0	-4.5506	13.9245	0.63955	0.0:1.0:0.0:0.0	.	134;130	B3KVR1;P63162	.;RSMN_HUMAN	R	130;130;130;134;130;134	ENSP00000382972:P130R;ENSP00000382970:P130R;ENSP00000382969:P130R;ENSP00000452342:P134R;ENSP00000375105:P130R;ENSP00000408767:P134R	ENSP00000375105:P130R	P	+	2	0	SNRPN	22773238	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	6.271000	0.72569	2.401000	0.81631	0.655000	0.94253	CCT		0.582	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		G	25222145	C	G	25222145	3	3	548	1	0	0	0	0	1	0	0	0	14876	681	24	4	403	4	SNRPN	15	25222145	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10		25222145	77309247	52	29493											
HERC2	8924	broad.mit.edu;hgsc.bcm.edu	37	15	28499508	28499508	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr15:28499508G>C	ENST00000261609.7	-	20	3136	c.3028C>G	c.(3028-3030)Cag>Gag	p.Q1010E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.Q1010E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTATGAGCTGAACCAGAGGC	0.383																																																1	Substitution - Missense(1)	kidney(1)											67	57	60					15																	28499508		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3028C>G	15.37:g.28499508G>C	ENSP00000261609:p.Gln1010Glu			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905517	0.72868	.	.	ENSG00000128731	ENST00000261609	T	0.41065	1.01	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	M	0.68317	2.08	0.80722	D	1	P	0.40332	0.713	P	0.51806	0.68	T	0.60156	-0.7318	10	0.59425	D	0.04	.	19.083	0.93190	0.0:0.0:1.0:0.0	.	1010	O95714	HERC2_HUMAN	E	1010	ENSP00000261609:Q1010E	ENSP00000261609:Q1010E	Q	-	1	0	HERC2	26173103	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	9.867000	0.99620	2.513000	0.84729	0.460000	0.39030	CAG		0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		C	28499508	G	C	28499508	3	2	548	1	0	0	0	0	1	0	0	0	7060	1299	45	4	11772	4	HERC2	15	28499508	Missense_Mutation	SNP	G	TCGA-CJ-5682-01A-11D-1534-10	3277363	28499508	74031884	53	29494											
TCF12	6938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	57565458	57565458	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr15:57565458G>T	ENST00000267811.5	+	18	2208	c.1904G>T	c.(1903-1905)aGa>aTa	p.R635I	TCF12_ENST00000343827.3_Missense_Mutation_p.R465I|TCF12_ENST00000333725.5_Missense_Mutation_p.R659I|TCF12_ENST00000559710.1_Missense_Mutation_p.R269I|TCF12_ENST00000543579.1_Missense_Mutation_p.R489I|TCF12_ENST00000438423.2_Missense_Mutation_p.R659I|TCF12_ENST00000559703.1_Missense_Mutation_p.R292I|TCF12_ENST00000557843.1_Missense_Mutation_p.R635I|TCF12_ENST00000452095.2_Missense_Mutation_p.R655I|TCF12_ENST00000537840.1_Missense_Mutation_p.R399I	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	635	Class A specific domain.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R659I(2)|p.R655I(1)|p.R465I(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGCAAGTCAGAGGTAAGTAG	0.423			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	4	Substitution - Missense(4)	kidney(4)											77	70	73					15																	57565458		2192	4292	6484	SO:0001583	missense	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1904G>T	15.37:g.57565458G>T	ENSP00000267811:p.Arg635Ile		Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190281	0.94923	.	.	ENSG00000140262	ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	D;D;D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51	4.82	4.82	0.62117	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.99;0.998;1.0;0.997;0.999;0.997;0.995;0.997	D;D;D;D;D;D;D;D	0.91635	0.962;0.993;0.999;0.981;0.997;0.994;0.979;0.991	D	0.99859	1.1081	10	0.87932	D	0	-5.5378	18.2463	0.89986	0.0:0.0:1.0:0.0	.	269;489;399;655;489;465;635;659	B4DZP2;B4DH96;B4E1W1;E9PGY0;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;HTF4_HUMAN;.	I	635;659;655;659;489;399;465;247	ENSP00000267811:R635I;ENSP00000388940:R659I;ENSP00000396881:R655I;ENSP00000331057:R659I;ENSP00000440017:R489I;ENSP00000444696:R399I;ENSP00000342459:R465I	ENSP00000267811:R635I	R	+	2	0	TCF12	55352750	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.683000	0.98657	2.386000	0.81285	0.655000	0.94253	AGA		0.423	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		T	57565458	G	T	57565458	3	4	548	1	0	0	0	0	1	0	0	0	15692	942	33	4	2119	4	TCF12	15	57565458	Missense_Mutation	SNP	G	TCGA-CJ-5682-01A-11D-1534-10	29065950	57565458	44965934	54	29495											
NFATC3	4775	broad.mit.edu;ucsc.edu	37	16	68224816	68224816	+	Silent	SNP	T	T	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr16:68224816T>A	ENST00000346183.3	+	9	2268	c.2244T>A	c.(2242-2244)atT>atA	p.I748I	NFATC3_ENST00000329524.4_Silent_p.I748I|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000575270.1_Silent_p.I748I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000349223.5_Silent_p.I748I	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	748					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.I748I(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GAAGTTTGATTTGCTCCATCC	0.473																																																2	Substitution - coding silent(2)	kidney(2)											124	102	109					16																	68224816		2198	4300	6498	SO:0001819	synonymous_variant	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2244T>A	16.37:g.68224816T>A			O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	CCDS10860.1																																																																																				0.473	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		A	68224816	T	A	68224816	2	1	548	1	0	0	0	0	0	0	0	1	10366	1829	64	5		5	NFATC3	16	68224816	Silent	SNP	T	TCGA-CJ-5682-01A-11D-1534-10		68224816	22129937	55	29496											
DHRS7C	201140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	9674867	9674867	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr17:9674867A>G	ENST00000330255.5	-	6	889	c.877T>C	c.(877-879)Ttc>Ctc	p.F293L	DHRS7C_ENST00000571134.1_Missense_Mutation_p.F292L	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	293					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)	p.F293L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GCGAAAAAGAACTCCGGGAAG	0.597																																																1	Substitution - Missense(1)	kidney(1)											50	56	54					17																	9674867		2033	4171	6204	SO:0001583	missense	201140				CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.877T>C	17.37:g.9674867A>G	ENSP00000327975:p.Phe293Leu		B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358276	0.41801	.	.	ENSG00000184544	ENST00000330255	D	0.85411	-1.98	5.5	2.12	0.27331	.	0.314716	0.39687	N	0.001292	T	0.54498	0.1862	N	0.01493	-0.835	0.32711	N	0.511622	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.53947	-0.8366	10	0.02654	T	1	.	4.9533	0.14025	0.6261:0.1472:0.2267:0.0	.	293;289	A6NNS2;B9EJH3	DRS7C_HUMAN;.	L	293	ENSP00000327975:F293L	ENSP00000327975:F293L	F	-	1	0	DHRS7C	9615592	0.116000	0.22171	0.997000	0.53966	0.993000	0.82548	0.532000	0.23067	0.171000	0.19730	0.528000	0.53228	TTC		0.597	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		G	9674867	A	G	9674867	3	3	548	1	0	0	0	0	1	0	0	0	4499	43	2	3	65	3	DHRS7C	17	9674867	Missense_Mutation	SNP	A	TCGA-CJ-5682-01A-11D-1534-10		9674867	71520343	56	29497											
SLFN12L	100506736	broad.mit.edu;hgsc.bcm.edu	37	17	33802320	33802320	+	Silent	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr17:33802320A>G	ENST00000260908.7	-	4	1506	c.1389T>C	c.(1387-1389)gcT>gcC	p.A463A	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Silent_p.A492A|SLFN12L_ENST00000449046.1_Silent_p.A494A	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	463						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.A494A(2)|p.A492A(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AAATCAGAAGAGCATCACAGA	0.458																																																3	Substitution - coding silent(3)	kidney(3)											107	87	93					17																	33802320		692	1591	2283	SO:0001819	synonymous_variant	100506736			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1389T>C	17.37:g.33802320A>G			F5H6G3	Silent	SNP	ENST00000260908.7	37	CCDS56026.1																																																																																				0.458	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		G	33802320	A	G	33802320	2	3	548	1	0	0	0	0	0	0	0	1	14741	291	11	3		3	SLFN12L	17	33802320	Silent	SNP	A	TCGA-CJ-5682-01A-11D-1534-10	24127453	33802320	47392890	57	29498											
C17orf66	256957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34182344	34182344	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr17:34182344A>T	ENST00000311880.2	-	15	1584	c.1436T>A	c.(1435-1437)cTc>cAc	p.L479H	C17orf66_ENST00000592980.1_Missense_Mutation_p.L439H	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		479					hematopoietic progenitor cell differentiation (GO:0002244)			p.L479H(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ATATACAGAGAGAACCTTGTT	0.438																																																1	Substitution - Missense(1)	kidney(1)											91	88	89					17																	34182344		2203	4300	6503	SO:0001583	missense	256957																														ENST00000311880.2:c.1436T>A	17.37:g.34182344A>T	ENSP00000309560:p.Leu479His		B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322225	0.41096	.	.	ENSG00000172653	ENST00000311880	T	0.55760	0.5	4.08	3.0	0.34707	.	0.960417	0.08546	N	0.929817	T	0.45418	0.1341	N	0.24115	0.695	0.09310	N	0.999998	D;D	0.61697	0.99;0.983	P;B	0.50192	0.634;0.431	T	0.26052	-1.0114	10	0.49607	T	0.09	.	6.2039	0.20591	0.8831:0.0:0.1169:0.0	.	439;479	A2RTY3-3;A2RTY3	.;CQ066_HUMAN	H	479	ENSP00000309560:L479H	ENSP00000309560:L479H	L	-	2	0	C17orf66	31206457	0.360000	0.24964	0.006000	0.13384	0.035000	0.12851	3.807000	0.55591	0.726000	0.32339	0.460000	0.39030	CTC		0.438	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			T	34182344	A	T	34182344	3	4	548	1	0	0	0	0	1	0	0	0	1876	304	11	5	280	5	C17orf66	17	34182344	Missense_Mutation	SNP	A	TCGA-CJ-5682-01A-11D-1534-10	380024	34182344	47012866	58	29499											
CCDC45	90799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62506316	62506316	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr17:62506316A>C	ENST00000556440.2	+	3	684	c.174A>C	c.(172-174)caA>caC	p.Q58H	CEP95_ENST00000581056.1_Missense_Mutation_p.Q58H|CEP95_ENST00000553412.1_5'UTR	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	58						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.Q58H(2)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CTAGGAGTCAAGAAGATGATG	0.413																																																2	Substitution - Missense(2)	kidney(2)											105	95	98					17																	62506316		1907	4161	6068	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.174A>C	17.37:g.62506316A>C	ENSP00000450461:p.Gln58His		B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271646	0.40194	.	.	ENSG00000258890	ENST00000553956;ENST00000556440	T;D	0.95412	1.41;-3.7	5.77	3.53	0.40419	.	0.240857	0.44097	D	0.000481	D	0.96256	0.8779	M	0.72118	2.19	0.80722	D	1	D	0.64830	0.994	P	0.60473	0.875	D	0.94796	0.7966	10	0.59425	D	0.04	-2.8574	8.8867	0.35406	0.839:0.0:0.161:0.0	.	58	Q96GE4	CEP95_HUMAN	H	58	ENSP00000452317:Q58H;ENSP00000450461:Q58H	ENSP00000438458:Q58H	Q	+	3	2	CEP95	59936778	1.000000	0.71417	0.999000	0.59377	0.004000	0.04260	2.377000	0.44300	0.484000	0.27630	0.459000	0.35465	CAA		0.413	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		C	62506316	A	C	62506316	3	2	548	1	0	0	0	0	1	0	0	0	2818	69	3	5	184	5	CCDC45	17	62506316	Missense_Mutation	SNP	A	TCGA-CJ-5682-01A-11D-1534-10	28323972	62506316	18688894	59	29500											
UNC13D	201294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73832900	73832900	+	Silent	SNP	A	A	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr17:73832900A>T	ENST00000207549.4	-	13	1534	c.1155T>A	c.(1153-1155)ggT>ggA	p.G385G	UNC13D_ENST00000412096.2_Silent_p.G385G	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	385	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.G385G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTGAGCCGACCCTGGATCC	0.652									Familial Hemophagocytic Lymphohistiocytosis																																							1	Substitution - coding silent(1)	kidney(1)											171	169	170					17																	73832900		2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1155T>A	17.37:g.73832900A>T			B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	CCDS11730.1																																																																																				0.652	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		T	73832900	A	T	73832900	2	4	548	1	0	0	0	0	0	0	0	1	16992	262	10	5		5	UNC13D	17	73832900	Silent	SNP	A	TCGA-CJ-5682-01A-11D-1534-10	11326584	73832900	7362310	60	29501											
MYO5B	4645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	47500800	47500800	+	Silent	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr18:47500800G>T	ENST00000285039.7	-	10	1541	c.1242C>A	c.(1240-1242)ggC>ggA	p.G414G		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	414	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.G414G(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCACAATCCAGCCGAACAACT	0.592																																																1	Substitution - coding silent(1)	kidney(1)											138	149	145					18																	47500800		2177	4263	6440	SO:0001819	synonymous_variant	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1242C>A	18.37:g.47500800G>T			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																				0.592	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47500800	G	T	47500800	2	4	548	1	0	0	0	0	0	0	0	1	10081	958	34	4		4	MYO5B	18	47500800	Silent	SNP	G	TCGA-CJ-5682-01A-11D-1534-10		47500800	30576448	61	29502											
GTF2F1	2962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6381619	6381619	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:6381619G>C	ENST00000394456.5	-	8	1308	c.844C>G	c.(844-846)Caa>Gaa	p.Q282E	GTF2F1_ENST00000429701.2_Missense_Mutation_p.Q197E|PSPN_ENST00000597721.1_5'Flank	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	282					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q282E(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGCTCTTCTTGGGAGCTACTG	0.697																																																1	Substitution - Missense(1)	kidney(1)											49	48	48					19																	6381619		2202	4299	6501	SO:0001583	missense	2962				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"General transcription factors"	4652	protein-coding gene	gene with protein product		189968	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.844C>G	19.37:g.6381619G>C	ENSP00000377969:p.Gln282Glu		B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.053436	0.00394	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045	T;T	0.39592	1.07;1.07	5.23	-0.156	0.13391	.	0.822162	0.10734	N	0.640203	T	0.19446	0.0467	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.18840	-1.0324	10	0.02654	T	1	-15.233	14.41	0.67109	0.0:0.6513:0.2409:0.1078	.	197;180;282	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	E	282;197;342	ENSP00000377969:Q282E;ENSP00000392107:Q197E	ENSP00000377969:Q282E	Q	-	1	0	GTF2F1	6332619	0.000000	0.05858	0.014000	0.15608	0.101000	0.19017	0.033000	0.13754	0.120000	0.18254	-0.152000	0.13540	CAA		0.697	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		C	6381619	G	C	6381619	3	2	548	1	0	0	0	0	1	0	0	0	6860	1357	47	4	733	4	GTF2F1	19	6381619	Missense_Mutation	SNP	G	TCGA-CJ-5682-01A-11D-1534-10		6381619	52747364	62	29503											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9087338	9087338	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:9087338A>G	ENST00000397910.4	-	1	4680	c.4477T>C	c.(4477-4479)Tcc>Ccc	p.S1493P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1493	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S1493P(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGGTGTGGACATAGGTGGA	0.418																																																2	Substitution - Missense(2)	kidney(2)											220	207	211					19																	9087338		1937	4138	6075	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4477T>C	19.37:g.9087338A>G	ENSP00000381008:p.Ser1493Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	9.197	1.027415	0.19512	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.01	1.01	0.19927	.	.	.	.	.	T	0.03739	0.0106	N	0.08118	0	.	.	.	D	0.62365	0.991	D	0.65323	0.934	T	0.43491	-0.9388	8	0.87932	D	0	.	4.2429	0.10658	1.0:0.0:0.0:0.0	.	1493	B5ME49	.	P	1493	ENSP00000381008:S1493P	ENSP00000381008:S1493P	S	-	1	0	MUC16	8948338	0.001000	0.12720	0.013000	0.15412	0.860000	0.49131	-0.066000	0.11598	0.708000	0.31955	0.260000	0.18958	TCC		0.418	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9087338	A	G	9087338	3	3	548	1	0	0	0	0	1	0	0	0	9975	275	10	3	39382	3	MUC16	19	9087338	Missense_Mutation	SNP	A	TCGA-CJ-5682-01A-11D-1534-10	2705719	9087338	50041645	63	29504											
DNMT1	1786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10250366	10250366	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:10250366A>G	ENST00000340748.4	-	33	4121	c.3886T>C	c.(3886-3888)Ttc>Ctc	p.F1296L	DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Missense_Mutation_p.F1296L|DNMT1_ENST00000359526.4_Missense_Mutation_p.F1312L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1296	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.F1296L(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AGCACGCCGAAGGTGCACTGA	0.637																																																1	Substitution - Missense(1)	kidney(1)											48	44	45					19																	10250366		2202	4300	6502	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3886T>C	19.37:g.10250366A>G	ENSP00000345739:p.Phe1296Leu		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.972325	0.92919	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.83419	-1.72;-1.72;-1.72	5.2	5.2	0.72013	.	0.050006	0.85682	N	0.000000	D	0.85544	0.5721	L	0.58810	1.83	0.80722	D	1	P;B;P	0.45011	0.705;0.282;0.848	P;B;P	0.50825	0.519;0.278;0.651	D	0.87239	0.2265	10	0.87932	D	0	.	14.083	0.64937	1.0:0.0:0.0:0.0	.	1296;1312;1296	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	L	1312;1296;1296;1164	ENSP00000352516:F1312L;ENSP00000440457:F1296L;ENSP00000345739:F1296L	ENSP00000345739:F1296L	F	-	1	0	DNMT1	10111366	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	6.939000	0.75911	1.974000	0.57490	0.456000	0.33151	TTC		0.637	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		G	10250366	A	G	10250366	3	3	548	1	0	0	0	0	1	0	0	0	4677	72	3	3	996	3	DNMT1	19	10250366	Missense_Mutation	SNP	A	TCGA-CJ-5682-01A-11D-1534-10	1163028	10250366	48878617	64	29505											
NFIX	4784	broad.mit.edu;hgsc.bcm.edu	37	19	13136046	13136046	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:13136046G>T	ENST00000592199.1	+	2	239	c.239G>T	c.(238-240)cGc>cTc	p.R80L	NFIX_ENST00000585575.1_Missense_Mutation_p.R72L|NFIX_ENST00000587760.1_Missense_Mutation_p.R72L|NFIX_ENST00000358552.3_Missense_Mutation_p.R79L|NFIX_ENST00000397661.2_Missense_Mutation_p.R80L|NFIX_ENST00000587260.1_Missense_Mutation_p.R79L|NFIX_ENST00000360105.4_Missense_Mutation_p.R83L|NFIX_ENST00000588228.1_Missense_Mutation_p.R33L			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	80					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R80L(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GCCAAGCTGCGCAAGGACATC	0.657																																																2	Substitution - Missense(2)	kidney(2)											58	59	59					19																	13136046		2203	4300	6503	SO:0001583	missense	4784			U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.239G>T	19.37:g.13136046G>T	ENSP00000467512:p.Arg80Leu		B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37		.	.	.	.	.	.	.	.	.	.	G	18.54	3.646983	0.67358	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000438869;ENST00000358552	T;T	0.77750	-1.12;-1.12	5.26	4.23	0.50019	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.065251	0.64402	D	0.000007	D	0.85852	0.5793	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.997;0.999;0.998	D;D;D;D;D	0.87578	0.994;0.99;0.986;0.998;0.991	D	0.86991	0.2110	10	0.87932	D	0	.	12.8001	0.57580	0.0813:0.0:0.9187:0.0	.	88;79;83;80;80	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	L	80;80;83;33;79	ENSP00000380781:R80L;ENSP00000351354:R79L	ENSP00000264825:R83L	R	+	2	0	NFIX	12997046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.808000	0.99193	1.219000	0.43474	0.655000	0.94253	CGC		0.657	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		T	13136046	G	T	13136046	3	4	548	1	0	0	0	0	1	0	0	0	10376	1087	38	4	245	4	NFIX	19	13136046	Missense_Mutation	SNP	G	TCGA-CJ-5682-01A-11D-1534-10	2885680	13136046	45992937	65	29506											
NOTCH3	4854	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15276831	15276831	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:15276831delC	ENST00000263388.2	-	30	5509	c.5434delG	c.(5434-5436)gagfs	p.E1812fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1812					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCATCTGCCTCATCCTCTTCA	0.587																																																0													76	67	70					19																	15276831		2203	4300	6503	SO:0001589	frameshift_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5434delG	19.37:g.15276831delC	ENSP00000263388:p.Glu1812fs		Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	ENST00000263388.2	37	CCDS12326.1																																																																																				0.587	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		-	15276831	C	-	15276831	7	5	548	1	0	1	0	1	0	0	0	0	10552	835	29	0	1547	0	NOTCH3	19	15276831	Frame_Shift_Del	DEL	C	TCGA-CJ-5682-01A-11D-1534-10	2140785	15276831	43852152	66	29507											
LYPD5	284348	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44301842	44301842	+	Silent	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:44301842G>T	ENST00000377950.3	-	5	737	c.657C>A	c.(655-657)acC>acA	p.T219T	AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000414615.2_Silent_p.T176T|LYPD5_ENST00000594013.1_Silent_p.T176T	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	219						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T219T(1)|p.T176T(1)		breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				TGAAGGGCTGGGTCATGGATT	0.652																																																2	Substitution - coding silent(2)	kidney(2)											131	117	122					19																	44301842		2203	4300	6503	SO:0001819	synonymous_variant	284348			AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.657C>A	19.37:g.44301842G>T			Q6PEX9|Q96DR2	Silent	SNP	ENST00000377950.3	37	CCDS46096.1																																																																																				0.652	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463611.1	NM_182573		T	44301842	G	T	44301842	2	4	548	1	0	0	0	0	0	0	0	1	9115	1219	43	4		4	LYPD5	19	44301842	Silent	SNP	G	TCGA-CJ-5682-01A-11D-1534-10	29025011	44301842	14827141	67	29508											
CEACAM20	125931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45026873	45026873	+	RNA	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:45026873C>T	ENST00000454753.1	-	0	819							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)		p.E181K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGGAGCCCTCCATCACCTCA	0.498																																																1	Substitution - Missense(1)	kidney(1)											95	104	101					19																	45026873		2128	4238	6366			125931			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45026873C>T				Missense_Mutation	SNP	ENST00000454753.1	37																																																																																					0.498	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		T	45026873	C	T	45026873	1	4	548	0	1	0	0	0	0	0	0	0	3193	864	30	2		2	CEACAM20	19	45026873	RNA	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	725031	45026873	14102110	68	29509											
ARHGAP35	2909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47491245	47491245	+	Splice_Site	SNP	G	G	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:47491245G>C	ENST00000404338.3	+	3	3826		c.e3-1			NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35						axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.?(2)									TTTCTCCTCAGGACTGAGCAC	0.557																																																2	Unknown(2)	kidney(2)											57	61	60					19																	47491245		2166	4279	6445	SO:0001630	splice_region_variant	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3827-1G>C	19.37:g.47491245G>C			A7E2A4|Q14452|Q9C0E1	Splice_Site	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172659	0.57584	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9825	0.89146	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP35	52183085	1.000000	0.71417	0.981000	0.43875	0.402000	0.30811	7.214000	0.77958	2.556000	0.86216	0.655000	0.94253	.		0.557	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	Intron	C	47491245	G	C	47491245	5	2	548	1	0	0	0	0	0	0	1	0	6797	1014	35	4	3836	4	ARHGAP35	19	47491245	Splice_Site	SNP	G	TCGA-CJ-5682-01A-11D-1534-10	2464372	47491245	11637738	69	29510											
ZNF616	90317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52619876	52619876	+	Silent	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:52619876T>G	ENST00000600228.1	-	4	802	c.541A>C	c.(541-543)Agg>Cgg	p.R181R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R181R(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTTTTTTCCCTAATGTGTGGA	0.373																																																1	Substitution - coding silent(1)	kidney(1)											164	154	158					19																	52619876		2203	4300	6503	SO:0001819	synonymous_variant	90317			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.541A>C	19.37:g.52619876T>G			B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	CCDS33090.1																																																																																				0.373	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		G	52619876	T	G	52619876	2	3	548	1	0	0	0	0	0	0	0	1	18046	1521	53	5		5	ZNF616	19	52619876	Silent	SNP	T	TCGA-CJ-5682-01A-11D-1534-10	5128631	52619876	6509107	70	29511											
CPXM1	56265	broad.mit.edu;ucsc.edu	37	20	2777900	2777900	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr20:2777900T>G	ENST00000380605.2	-	6	834	c.770A>C	c.(769-771)cAg>cCg	p.Q257P		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	257	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q257P(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GAGCCAGGTCTGGGGCAGCAG	0.662																																																1	Substitution - Missense(1)	kidney(1)											23	27	25					20																	2777900		2198	4288	6486	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.770A>C	20.37:g.2777900T>G	ENSP00000369979:p.Gln257Pro		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.086842	0.76642	.	.	ENSG00000088882	ENST00000380605	D	0.98958	-5.27	4.66	3.52	0.40303	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.062114	0.64402	D	0.000003	D	0.99205	0.9724	H	0.95780	3.72	0.48288	D	0.999621	D;D	0.69078	0.997;0.983	D;P	0.71656	0.974;0.8	D	0.99035	1.0822	10	0.62326	D	0.03	-22.1388	8.6487	0.34022	0.171:0.0:0.0:0.829	.	257;257	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	P	257	ENSP00000369979:Q257P	ENSP00000369979:Q257P	Q	-	2	0	CPXM1	2725900	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.752000	0.55172	0.768000	0.33290	0.459000	0.35465	CAG		0.662	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		G	2777900	T	G	2777900	3	3	548	1	0	0	0	0	1	0	0	0	3839	1580	55	5	1470	5	CPXM1	20	2777900	Missense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10		2777900	60247620	71	29512											
BRWD1	54014	broad.mit.edu;hgsc.bcm.edu	37	21	40568620	40568620	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr21:40568620T>G	ENST00000333229.2	-	41	6702	c.6375A>C	c.(6373-6375)gaA>gaC	p.E2125D	BRWD1_ENST00000380800.3_Missense_Mutation_p.E2125D|BRWD1_ENST00000342449.3_Missense_Mutation_p.E2125D	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2125					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E2125D(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCCTTTTTACTTCCTTCTCTG	0.413																																					Melanoma(170;988 1986 4794 16843 39731)											2	Substitution - Missense(2)	kidney(2)											169	162	164					21																	40568620		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6375A>C	21.37:g.40568620T>G	ENSP00000330753:p.Glu2125Asp		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	3.957	-0.011111	0.07727	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.55588	0.51;0.52;0.57	5.53	2.0	0.26442	.	3.233610	0.00780	N	0.001268	T	0.52306	0.1726	M	0.62723	1.935	0.09310	N	1	P;P	0.38922	0.634;0.651	B;B	0.39258	0.295;0.154	T	0.29912	-0.9996	10	0.20046	T	0.44	-4.4605	7.8629	0.29520	0.0:0.3121:0.0:0.6879	.	2125;2125	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	D	2125	ENSP00000330753:E2125D;ENSP00000344333:E2125D;ENSP00000370178:E2125D	ENSP00000330753:E2125D	E	-	3	2	BRWD1	39490490	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.138000	0.10374	0.413000	0.25759	0.533000	0.62120	GAA		0.413	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		G	40568620	T	G	40568620	3	3	548	1	0	0	0	0	1	0	0	0	1527	1606	56	5	834	5	BRWD1	21	40568620	Missense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10		40568620	7561275	72	29513											
MYO18B	84700	broad.mit.edu;ucsc.edu	37	22	26272193	26272193	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr22:26272193T>G	ENST00000407587.2	+	24	4290	c.4121T>G	c.(4120-4122)gTg>gGg	p.V1374G	MYO18B_ENST00000335473.7_Missense_Mutation_p.V1373G|MYO18B_ENST00000536101.1_Missense_Mutation_p.V1373G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1373						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V1374G(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGAAGAATGTGGCTGTGTTC	0.567																																																1	Substitution - Missense(1)	kidney(1)											42	46	45					22																	26272193		2086	4215	6301	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4121T>G	22.37:g.26272193T>G	ENSP00000386096:p.Val1374Gly		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	T	18.62	3.662577	0.67700	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72835	-0.69;-0.69;-0.69	5.05	5.05	0.67936	.	0.520810	0.18276	N	0.146167	T	0.69223	0.3087	L	0.39633	1.23	0.32193	N	0.578844	P;P;P;P	0.50943	0.898;0.901;0.925;0.94	P;B;P;P	0.48921	0.595;0.391;0.491;0.595	T	0.77242	-0.2660	10	0.87932	D	0	.	13.0221	0.58794	0.0:0.0:0.0:1.0	.	886;1373;1374;1373	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	G	1373;1373;1374	ENSP00000441229:V1373G;ENSP00000334563:V1373G;ENSP00000386096:V1374G	ENSP00000334563:V1373G	V	+	2	0	MYO18B	24602193	0.843000	0.29541	0.656000	0.29637	0.975000	0.68041	6.231000	0.72307	2.022000	0.59522	0.528000	0.53228	GTG		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		G	26272193	T	G	26272193	3	3	548	1	0	0	0	0	1	0	0	0	10068	1696	59	5	4208	5	MYO18B	22	26272193	Missense_Mutation	SNP	T	TCGA-CJ-5682-01A-11D-1534-10		26272193	25032373	73	29514											
PES1	9514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30973095	30973095	+	5'Flank	SNP	G	G	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr22:30973095G>A	ENST00000406361.1	-	0	0				PES1_ENST00000354694.7_Missense_Mutation_p.R569W|PES1_ENST00000402284.3_Missense_Mutation_p.R552W|GAL3ST1_ENST00000402369.1_5'Flank|PES1_ENST00000402281.1_Missense_Mutation_p.R430W|PES1_ENST00000335214.6_Missense_Mutation_p.R564W|PES1_ENST00000405677.1_Missense_Mutation_p.R430W			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1						galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.R569W(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGGGCTTTCCGCTTCTCCGCC	0.617																																																1	Substitution - Missense(1)	kidney(1)											61	51	54					22																	30973095		2203	4300	6503	SO:0001631	upstream_gene_variant	23481			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200		22.37:g.30973095G>A	Exception_encountered		Q96C63	Missense_Mutation	SNP	ENST00000406361.1	37	CCDS13879.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.802834|3.802834	0.70682|0.70682	.|.	.|.	ENSG00000100029|ENSG00000100029	ENST00000441668|ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	.|T;T;T;T;T	.|0.35973	.|1.33;1.28;1.28;1.28;1.31	5.31|5.31	3.07|3.07	0.35406|0.35406	.|.	.|0.056140	.|0.64402	.|D	.|0.000001	T|T	0.63757|0.63757	0.2538|0.2538	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.993;0.993;0.999;0.993	T|T	0.71777|0.71777	-0.4490|-0.4490	5|10	.|0.87932	.|D	.|0	-24.7536|-24.7536	12.6194|12.6194	0.56595|0.56595	0.0:0.0:0.5388:0.4612|0.0:0.0:0.5388:0.4612	.|.	.|569;552;564;569	.|B2RDF2;B5MCF9;O00541-2;O00541	.|.;.;.;PESC_HUMAN	V|W	174|569;430;430;552;564	.|ENSP00000346725:R569W;ENSP00000384366:R430W;ENSP00000385654:R430W;ENSP00000384252:R552W;ENSP00000334612:R564W	.|ENSP00000334612:R564W	A|R	-|-	2|1	0|2	PES1|PES1	29303095|29303095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.801000|0.801000	0.45260|0.45260	3.333000|3.333000	0.52090|0.52090	1.188000|1.188000	0.43014|0.43014	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.617	GAL3ST1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321744.1	NM_004861		A	30973095	G	A	30973095	1	1	548	0	1	0	0	0	0	0	0	0	11735	1086	38	1		1	PES1	22	30973095	5'Flank	SNP	G	TCGA-CJ-5682-01A-11D-1534-10	4700902	30973095	20331471	74	29515											
RFPL2	10739	broad.mit.edu;hgsc.bcm.edu	37	22	32587136	32587136	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr22:32587136C>G	ENST00000400237.1	-	5	1695	c.760G>C	c.(760-762)Gac>Cac	p.D254H	RFPL2_ENST00000400236.3_Missense_Mutation_p.D164H|RFPL2_ENST00000248980.4_Missense_Mutation_p.D193H|RFPL2_ENST00000248983.4_Missense_Mutation_p.D164H|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	254	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.D164H(1)|p.D254H(1)|p.D193H(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						ACTCCCAGGTCCCATTCTGTG	0.582																																																3	Substitution - Missense(3)	kidney(3)											104	104	104					22																	32587136		2203	4300	6503	SO:0001583	missense	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.760G>C	22.37:g.32587136C>G	ENSP00000383096:p.Asp254His			Missense_Mutation	SNP	ENST00000400237.1	37	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618144	0.46736	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	0.311	0.311	0.15831	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.77538	0.4145	M	0.78344	2.41	0.28883	N	0.894274	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.973	T	0.66964	-0.5790	9	0.66056	D	0.02	.	6.4489	0.21892	0.0:0.9998:0.0:2.0E-4	.	254;193	O75678;O75678-3	RFPL2_HUMAN;.	H	193;164;164;254	ENSP00000248980:D193H;ENSP00000248983:D164H;ENSP00000383095:D164H;ENSP00000383096:D254H	ENSP00000248980:D193H	D	-	1	0	RFPL2	30917136	0.203000	0.23435	0.171000	0.22900	0.170000	0.22686	0.477000	0.22196	0.392000	0.25172	0.398000	0.26397	GAC		0.582	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		G	32587136	C	G	32587136	3	3	548	1	0	0	0	0	1	0	0	0	13260	855	30	4	380	4	RFPL2	22	32587136	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10	1614041	32587136	18717430	75	29516											
FAM3A	60343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153735234	153735234	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chrX:153735234C>T	ENST00000447601.2	-	9	1067	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	FAM3A_ENST00000434658.2_Missense_Mutation_p.V184M|FAM3A_ENST00000393572.1_Missense_Mutation_p.V163M|FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000369641.3_Missense_Mutation_p.V208M|FAM3A_ENST00000369643.1_Missense_Mutation_p.V201M|FAM3A_ENST00000359889.5_Missense_Mutation_p.V201M	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	201						extracellular region (GO:0005576)		p.V201M(1)		kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGTTCTTCACGTGCTGTGGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											153	89	111					X																	153735234		2203	4300	6503	SO:0001583	missense	60343			X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.601G>A	X.37:g.153735234C>T	ENSP00000416146:p.Val201Met		A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	ENST00000447601.2	37	CCDS35453.1	.	.	.	.	.	.	.	.	.	.	C	8.640	0.895836	0.17686	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000393572	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.38	3.19	0.36642	.	0.265266	0.41500	N	0.000862	T	0.06826	0.0174	N	0.02315	-0.6	0.30094	N	0.808064	B;B;B;B	0.31655	0.005;0.006;0.334;0.011	B;B;B;B	0.22152	0.006;0.005;0.038;0.016	T	0.17561	-1.0365	10	0.33141	T	0.24	-14.957	7.4454	0.27209	0.0:0.6719:0.0:0.3281	.	184;208;215;201	B4DFI8;Q5HY75;D3DWX8;P98173	.;.;.;FAM3A_HUMAN	M	184;201;201;201;208;163	ENSP00000396243:V184M;ENSP00000352955:V201M;ENSP00000358657:V201M;ENSP00000416146:V201M;ENSP00000358655:V208M;ENSP00000377202:V163M	ENSP00000352955:V201M	V	-	1	0	FAM3A	153388428	0.403000	0.25319	0.630000	0.29268	0.378000	0.30076	0.521000	0.22893	0.274000	0.22072	0.529000	0.55759	GTG		0.602	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2			T	153735234	C	T	153735234	3	4	548	1	0	0	0	0	1	0	0	0	5558	536	19	1	95	1	FAM3A	23	153735234	Missense_Mutation	SNP	C	TCGA-CJ-5682-01A-11D-1534-10		153735234	1535326	76	29517											
FAM73A	374986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78249000	78249000	+	Silent	SNP	T	T	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:78249000T>C	ENST00000370791.3	+	2	191	c.159T>C	c.(157-159)ttT>ttC	p.F53F	FAM73A_ENST00000443751.2_Intron	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	53						integral component of membrane (GO:0016021)		p.F53F(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TAAGAGTGTTTGATCTTCCTC	0.353																																																1	Substitution - coding silent(1)	kidney(1)											151	145	147					1																	78249000		2203	4300	6503	SO:0001819	synonymous_variant	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.159T>C	1.37:g.78249000T>C			Q6MZG0	Silent	SNP	ENST00000370791.3	37	CCDS681.1																																																																																				0.353	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		C	78249000	T	C	78249000	2	2	549	1	0	0	0	0	0	0	0	1	5619	1809	63	3		3	FAM73A	1	78249000	Silent	SNP	T	TCGA-CJ-5683-01A-11D-1534-10		78249000	171001621	1	29518											
HIAT1	64645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100503796	100503796	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:100503796A>T	ENST00000370152.3	+	1	144	c.8A>T	c.(7-9)cAg>cTg	p.Q3L	RP4-714D9.5_ENST00000564623.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	3					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Q3L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AAAATGACCCAGGGGAAGAAG	0.632																																																1	Substitution - Missense(1)	kidney(1)											64	58	60					1																	100503796		2179	4238	6417	SO:0001583	missense	64645			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.8A>T	1.37:g.100503796A>T	ENSP00000359171:p.Gln3Leu		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	CCDS763.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907314	0.52333	.	.	ENSG00000156875	ENST00000370152	T	0.30182	1.54	4.8	2.5	0.30297	Major facilitator superfamily domain, general substrate transporter (1);	0.290951	0.28006	N	0.016966	T	0.08582	0.0213	L	0.29908	0.895	0.45261	D	0.998265	B	0.09022	0.002	B	0.04013	0.001	T	0.07462	-1.0771	10	0.36615	T	0.2	-0.3119	7.1971	0.25860	0.8187:0.0:0.1813:0.0	.	3	Q96MC6	HIAT1_HUMAN	L	3	ENSP00000359171:Q3L	ENSP00000359171:Q3L	Q	+	2	0	HIAT1	100276384	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.096000	0.41738	0.682000	0.31407	0.379000	0.24179	CAG		0.632	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		T	100503796	A	T	100503796	3	4	549	1	0	0	0	0	1	0	0	0	7099	188	7	5	10	5	HIAT1	1	100503796	Missense_Mutation	SNP	A	TCGA-CJ-5683-01A-11D-1534-10	22254796	100503796	148746825	2	29519											
GPSM2	29899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109466798	109466798	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:109466798G>A	ENST00000406462.2	+	15	2550	c.1777G>A	c.(1777-1779)Gct>Act	p.A593T	GPSM2_ENST00000264126.3_Missense_Mutation_p.A593T|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	593					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)	p.A586T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CAACAAAGAGGCTGATGAAGA	0.408																																																1	Substitution - Missense(1)	kidney(1)											100	89	92					1																	109466798		2203	4300	6503	SO:0001583	missense	29899			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1777G>A	1.37:g.109466798G>A	ENSP00000385510:p.Ala593Thr		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	ENST00000406462.2	37	CCDS792.2	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509213	0.44660	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	D;D	0.93307	-3.2;-3.2	5.62	3.74	0.42951	.	0.288557	0.39274	N	0.001406	T	0.79919	0.4529	N	0.14661	0.345	0.26972	N	0.965562	B	0.24823	0.112	B	0.20184	0.028	T	0.71649	-0.4529	10	0.72032	D	0.01	-2.8453	16.2361	0.82375	0.0:0.7387:0.2613:0.0	.	593	P81274	GPSM2_HUMAN	T	593	ENSP00000385510:A593T;ENSP00000264126:A593T	ENSP00000264126:A593T	A	+	1	0	GPSM2	109268321	1.000000	0.71417	0.999000	0.59377	0.253000	0.25986	3.077000	0.50089	0.730000	0.32425	-0.165000	0.13383	GCT		0.408	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		A	109466798	G	A	109466798	3	1	549	1	0	0	0	0	1	0	0	0	6737	1203	42	2	1827	2	GPSM2	1	109466798	Missense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	8963002	109466798	139783823	3	29520											
MAGI3	260425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	114193677	114193677	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:114193677A>T	ENST00000307546.9	+	14	2364	c.2289A>T	c.(2287-2289)aaA>aaT	p.K763N	MAGI3_ENST00000369615.1_Missense_Mutation_p.K763N|MAGI3_ENST00000369617.4_Missense_Mutation_p.K788N|MAGI3_ENST00000369611.4_Missense_Mutation_p.K763N	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	788	Interaction with BAI1.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.K763N(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCTGAGAAAGATGGTCGGC	0.428																																																2	Substitution - Missense(2)	kidney(2)											108	105	106					1																	114193677		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2289A>T	1.37:g.114193677A>T	ENSP00000304604:p.Lys763Asn		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064842	0.55432	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.74	-2.26	0.06867	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.61218	1.895	0.58432	D	0.999999	D;D;P	0.89917	0.99;1.0;0.507	P;D;P	0.87578	0.841;0.998;0.549	T	0.30357	-0.9981	10	0.52906	T	0.07	-0.3518	12.9047	0.58145	0.5267:0.0:0.4733:0.0	.	763;763;788	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	N	788;763;763;763	ENSP00000358630:K788N;ENSP00000304604:K763N;ENSP00000358628:K763N;ENSP00000358624:K763N	ENSP00000304604:K763N	K	+	3	2	MAGI3	113995200	0.955000	0.32602	0.973000	0.42090	0.999000	0.98932	0.127000	0.15790	-0.694000	0.05113	0.533000	0.62120	AAA		0.428	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		T	114193677	A	T	114193677	3	4	549	1	0	0	0	0	1	0	0	0	9194	69	3	5	2343	5	MAGI3	1	114193677	Missense_Mutation	SNP	A	TCGA-CJ-5683-01A-11D-1534-10	4726879	114193677	135056944	4	29521											
WDR3	10885	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	118483544	118483544	+	Missense_Mutation	SNP	C	C	T	rs142439174	byFrequency	TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:118483544C>T	ENST00000349139.5	+	7	817	c.770C>T	c.(769-771)aCg>aTg	p.T257M	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	257						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T257M(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GCCTTTGAGACGGATGAAGCC	0.393													C|||	9	0.00179712	0.0061	0.0	5008	,	,		18644	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	MET/THR	15,4391	21.2+/-45.6	0,15,2188	104	104	104		770	-5.4	0	1	dbSNP_134	104	0,8600		0,0,4300	yes	missense	WDR3	NM_006784.2	81	0,15,6488	TT,TC,CC		0.0,0.3404,0.1153	benign	257/944	118483544	15,12991	2203	4300	6503	SO:0001583	missense	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.770C>T	1.37:g.118483544C>T	ENSP00000308179:p.Thr257Met			Missense_Mutation	SNP	ENST00000349139.5	37	CCDS898.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	8.265	0.812106	0.16537	0.003404	0.0	ENSG00000065183	ENST00000349139	T	0.53857	0.6	5.17	-5.45	0.02616	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	2.293110	0.01313	N	0.010681	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25984	-1.0116	10	0.52906	T	0.07	0.1146	13.9516	0.64121	0.0:0.5455:0.0:0.4545	.	257	Q9UNX4	WDR3_HUMAN	M	257	ENSP00000308179:T257M	ENSP00000308179:T257M	T	+	2	0	WDR3	118285067	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	-0.305000	0.08188	-0.878000	0.04007	-2.048000	0.00412	ACG		0.393	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		T	118483544	C	T	118483544	3	4	549	1	0	0	0	0	1	0	0	0	17290	536	19	1	792	1	WDR3	1	118483544	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	4289867	118483544	130767077	5	29522											
RPTN	126638	broad.mit.edu;ucsc.edu	37	1	152127611	152127611	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:152127611C>T	ENST00000316073.3	-	3	2028	c.1964G>A	c.(1963-1965)aGc>aAc	p.S655N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	655	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S655N(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGATGTTGGCTATCCTCTTC	0.517																																																1	Substitution - Missense(1)	kidney(1)											256	207	222					1																	152127611		1568	3582	5150	SO:0001583	missense	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1964G>A	1.37:g.152127611C>T	ENSP00000317895:p.Ser655Asn		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	6.887	0.533041	0.13188	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.17691	2.26	5.07	-4.6	0.03390	.	1.463310	0.04884	N	0.448257	T	0.02649	0.0080	L	0.43923	1.385	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.30119	-0.9989	10	0.07644	T	0.81	-1.0E-4	6.7378	0.23419	0.0:0.2051:0.226:0.5689	.	655	Q6XPR3	RPTN_HUMAN	N	655;310	ENSP00000317895:S655N	ENSP00000317895:S655N	S	-	2	0	RPTN	150394235	0.000000	0.05858	0.003000	0.11579	0.074000	0.17049	-0.961000	0.03845	-0.549000	0.06191	0.643000	0.83706	AGC		0.517	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		T	152127611	C	T	152127611	3	4	549	1	0	0	0	0	1	0	0	0	13670	797	28	2	394	2	RPTN	1	152127611	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	33644067	152127611	97123010	6	29523											
FDPS	2224	broad.mit.edu;hgsc.bcm.edu	37	1	155279736	155279736	+	Silent	SNP	A	A	G			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:155279736A>G	ENST00000356657.6	+	2	318	c.156A>G	c.(154-156)caA>caG	p.Q52Q	FDPS_ENST00000447866.1_Intron|FDPS_ENST00000368356.4_Silent_p.Q52Q|FDPS_ENST00000487002.1_3'UTR	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	52					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q52Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GCTGGTGCCAAGCGTGGACAG	0.637																																																1	Substitution - coding silent(1)	kidney(1)											21	22	22					1																	155279736		2202	4300	6502	SO:0001819	synonymous_variant	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.156A>G	1.37:g.155279736A>G			D3DV91|E9PCI9|Q96G29	Silent	SNP	ENST00000356657.6	37	CCDS1110.1																																																																																				0.637	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		G	155279736	A	G	155279736	2	3	549	1	0	0	0	0	0	0	0	1	5805	69	3	3		3	FDPS	1	155279736	Silent	SNP	A	TCGA-CJ-5683-01A-11D-1534-10	3152125	155279736	93970885	7	29524											
RNASEL	6041	broad.mit.edu;ucsc.edu	37	1	182551376	182551376	+	Silent	SNP	G	G	A	rs200818153		TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:182551376G>A	ENST00000367559.3	-	4	1837	c.1584C>T	c.(1582-1584)gtC>gtT	p.V528V	RNASEL_ENST00000539397.1_Silent_p.V528V|RNASEL_ENST00000444138.1_Silent_p.V528V	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	528	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.V528V(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCACATAGAGGACCAGCCGTC	0.443																																																1	Substitution - coding silent(1)	kidney(1)											119	114	116					1																	182551376		2203	4300	6503	SO:0001819	synonymous_variant	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1584C>T	1.37:g.182551376G>A			Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	G	8.179	0.793506	0.16327	.	.	ENSG00000135828	ENST00000543858	.	.	.	5.1	1.06	0.20224	.	.	.	.	.	T	0.50548	0.1622	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26503	-1.0101	5	0.22109	T	0.4	-24.6326	7.9837	0.30198	0.3489:0.0:0.6511:0.0	.	.	.	.	S	144	.	ENSP00000443960:P144S	P	-	1	0	RNASEL	180817999	1.000000	0.71417	0.565000	0.28409	0.903000	0.53119	0.489000	0.22387	0.006000	0.14734	-0.143000	0.13931	CCT		0.443	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		A	182551376	G	A	182551376	2	1	549	1	0	0	0	0	0	0	0	1	13422	1161	41	2		2	RNASEL	1	182551376	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	27271640	182551376	66699245	8	29525											
NFASC	23114	broad.mit.edu;hgsc.bcm.edu	37	1	204955082	204955082	+	Silent	SNP	G	G	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:204955082G>A	ENST00000404076.1	+	21	2990	c.2568G>A	c.(2566-2568)gtG>gtA	p.V856V	NFASC_ENST00000338515.6_Silent_p.V877V|NFASC_ENST00000367172.4_Silent_p.V877V|NFASC_ENST00000404907.1_Silent_p.V873V|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367170.4_Silent_p.V877V|NFASC_ENST00000539706.1_Silent_p.V873V|NFASC_ENST00000513543.1_Silent_p.V873V|NFASC_ENST00000360049.4_Silent_p.V873V|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000367171.4_Silent_p.V862V|NFASC_ENST00000338586.6_Silent_p.V877V			O94856	NFASC_HUMAN	neurofascin	877	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.V873V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTGTGGGTGTCTCAGAAGA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											59	48	52					1																	204955082		2203	4300	6503	SO:0001819	synonymous_variant	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000404076.1:c.2568G>A	1.37:g.204955082G>A			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000404076.1	37																																																																																					0.602	NFASC-012	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000131243.1	NM_001005388		A	204955082	G	A	204955082	2	1	549	1	0	0	0	0	0	0	0	1	10361	1364	48	2		2	NFASC	1	204955082	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	22403706	204955082	44295539	9	29526											
C1orf55	163859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	226180697	226180697	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:226180697C>A	ENST00000272091.7	-	3	263	c.245G>T	c.(244-246)gGa>gTa	p.G82V		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	82								p.G70V(1)|p.G82V(1)									GAGCATAGATCCAAAACCTGA	0.413																																																2	Substitution - Missense(2)	kidney(2)											66	58	61					1																	226180697		1862	4097	5959	SO:0001583	missense	0			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 55"	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.245G>T	1.37:g.226180697C>A	ENSP00000272091:p.Gly82Val		A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	CCDS41473.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.40|16.40	3.112605|3.112605	0.56398|0.56398	.|.	.|.	ENSG00000143751|ENSG00000143751	ENST00000366817|ENST00000272091;ENST00000366818	T|D	0.52983|0.89415	0.64|-2.51	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96312|0.96312	0.8797|0.8797	M|M	0.93808|0.93808	3.46|3.46	0.47441|0.47441	D|D	0.999422|0.999422	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.996	D|D	0.96608|0.96608	0.9450|0.9450	7|10	0.87932|0.87932	D|D	0|0	-18.1297|-18.1297	20.2421|20.2421	0.98377|0.98377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|70;82	.|Q6IQ49-2;Q6IQ49	.|.;CA055_HUMAN	Y|V	31|82;70	ENSP00000355782:D31Y|ENSP00000272091:G82V	ENSP00000355782:D31Y|ENSP00000272091:G82V	D|G	-|-	1|2	0|0	C1orf55|C1orf55	224247320|224247320	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.995000|0.995000	0.86356|0.86356	7.729000|7.729000	0.84864|0.84864	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.413	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		A	226180697	C	A	226180697	3	1	549	1	0	0	0	0	1	0	0	0	2049	855	30	4	1130	4	C1orf55	1	226180697	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	21225615	226180697	23069924	10	29527											
OBSCN	84033	broad.mit.edu;hgsc.bcm.edu	37	1	228403481	228403481	+	Silent	SNP	G	G	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:228403481G>C	ENST00000422127.1	+	6	2090	c.2046G>C	c.(2044-2046)ctG>ctC	p.L682L	OBSCN_ENST00000284548.11_Silent_p.L682L|C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000570156.2_Silent_p.L682L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	682	Ig-like 6.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L682L(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCGCAGCTGAAGTTCGTGG	0.652																																																4	Substitution - coding silent(4)	kidney(4)											20	25	23					1																	228403481		2110	4233	6343	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2046G>C	1.37:g.228403481G>C			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																				0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228403481	G	C	228403481	2	2	549	1	0	0	0	0	0	0	0	1	10814	1277	45	4		4	OBSCN	1	228403481	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	2222784	228403481	20847140	11	29528											
CNST	163882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	246797267	246797267	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr1:246797267C>A	ENST00000366513.4	+	5	927	c.658C>A	c.(658-660)Cat>Aat	p.H220N	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.H220N	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	220					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.H220N(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACGATTGTATCATGAGCAATT	0.353																																																1	Substitution - Missense(1)	kidney(1)											113	114	114					1																	246797267		2203	4300	6503	SO:0001583	missense	163882			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.658C>A	1.37:g.246797267C>A	ENSP00000355470:p.His220Asn		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612830	0.87258	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.26223	1.75;1.75	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.56257	-0.8009	10	0.66056	D	0.02	-0.4146	18.5555	0.91083	0.0:1.0:0.0:0.0	.	220;220	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	N	220	ENSP00000355470:H220N;ENSP00000355469:H220N	ENSP00000355469:H220N	H	+	1	0	CNST	244863890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.912000	0.69948	2.726000	0.93360	0.644000	0.83932	CAT		0.353	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		A	246797267	C	A	246797267	3	1	549	1	0	0	0	0	1	0	0	0	3636	826	29	4	672	4	CNST	1	246797267	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	18393786	246797267	2453354	12	29529											
TNFAIP6	7130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152220485	152220485	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr2:152220485A>C	ENST00000243347.3	+	2	198	c.123A>C	c.(121-123)gaA>gaC	p.E41D		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	41	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)	p.E41D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	ACCACAGAGAAGCACGGTCTG	0.502																																																1	Substitution - Missense(1)	kidney(1)											85	80	82					2																	152220485		2203	4300	6503	SO:0001583	missense	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.123A>C	2.37:g.152220485A>C	ENSP00000243347:p.Glu41Asp		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.460544	0.63513	.	.	ENSG00000123610	ENST00000243347	T	0.31769	1.48	5.85	4.69	0.59074	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	L	0.55481	1.735	0.47065	D	0.999304	D	0.69078	0.997	D	0.79108	0.992	T	0.43718	-0.9374	10	0.66056	D	0.02	.	9.6059	0.39632	0.8481:0.0:0.1519:0.0	.	41	P98066	TSG6_HUMAN	D	41	ENSP00000243347:E41D	ENSP00000243347:E41D	E	+	3	2	TNFAIP6	151928731	1.000000	0.71417	0.997000	0.53966	0.519000	0.34347	3.639000	0.54339	1.033000	0.39918	-0.297000	0.09499	GAA		0.502	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		C	152220485	A	C	152220485	3	2	549	1	0	0	0	0	1	0	0	0	16280	69	3	5	129	5	TNFAIP6	2	152220485	Missense_Mutation	SNP	A	TCGA-CJ-5683-01A-11D-1534-10		152220485	90978888	13	29530											
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170026249	170026249	+	Silent	SNP	G	G	A	rs371738642		TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr2:170026249G>A	ENST00000263816.3	-	60	11745	c.11460C>T	c.(11458-11460)tcC>tcT	p.S3820S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3820	LDL-receptor class A 33. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S3820S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AACAGTCAGCGGATCCATCGC	0.423																																																1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	224	175	192		11460	-12.3	0	2		192	0,8600		0,0,4300	no	coding-synonymous	LRP2	NM_004525.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3820/4656	170026249	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11460C>T	2.37:g.170026249G>A			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170026249	G	A	170026249	2	1	549	1	0	0	0	0	0	0	0	1	8958	1103	39	1		1	LRP2	2	170026249	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	17805764	170026249	73173124	14	29531											
TMEM198	130612	broad.mit.edu	37	2	220412692	220412692	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr2:220412692delC	ENST00000344458.2	+	4	1216	c.631delC	c.(631-633)cccfs	p.P212fs	TMEM198_ENST00000373883.3_Frame_Shift_Del_p.P212fs|RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	212	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCTCCTGTGCCCCCACTCTG	0.677																																																0													10	10	10					2																	220412692		2191	4295	6486	SO:0001589	frameshift_variant	130612			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.631delC	2.37:g.220412692delC	ENSP00000343507:p.Pro212fs			Frame_Shift_Del	DEL	ENST00000344458.2	37	CCDS33385.1																																																																																				0.677	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		-	220412692	C	-	220412692	7	5	549	1	0	1	0	1	0	0	0	0	16124	739	26	0	637	0	TMEM198	2	220412692	Frame_Shift_Del	DEL	C	TCGA-CJ-5683-01A-11D-1534-10	50386443	220412692	22786681	15	29532											
UGT1A4	54657	broad.mit.edu	37	2	234628268	234628268	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr2:234628268C>A	ENST00000373409.3	+	1	845	c.802C>A	c.(802-804)Ccg>Acg	p.P268T	UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	268					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P268T(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	CTACCCCAGGCCGATCATGCC	0.522																																					Melanoma(99;1011 1962 13201 26492)											1	Substitution - Missense(1)	kidney(1)											162	163	163					2																	234628268		2203	4298	6501	SO:0001583	missense	54657			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.802C>A	2.37:g.234628268C>A	ENSP00000362508:p.Pro268Thr		B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542389	0.65198	.	.	ENSG00000244474	ENST00000373409	T	0.64618	-0.11	4.49	3.6	0.41247	.	.	.	.	.	D	0.85292	0.5663	H	0.97023	3.925	0.45621	D	0.998557	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89673	0.3885	9	0.87932	D	0	.	14.3024	0.66362	0.0:0.8499:0.1501:0.0	.	268;268	B8K288;P22310	.;UD14_HUMAN	T	268	ENSP00000362508:P268T	ENSP00000362508:P268T	P	+	1	0	UGT1A4	234293007	0.997000	0.39634	0.989000	0.46669	0.660000	0.38997	5.961000	0.70356	0.842000	0.35045	0.491000	0.48974	CCG		0.522	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		A	234628268	C	A	234628268	3	1	549	1	0	0	0	0	1	0	0	0	16952	739	26	4	804	4	UGT1A4	2	234628268	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	14215576	234628268	8571105	16	29533											
BOC	91653	broad.mit.edu;hgsc.bcm.edu	37	3	112998705	112998705	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr3:112998705C>A	ENST00000495514.1	+	13	2759	c.2055C>A	c.(2053-2055)aaC>aaA	p.N685K	BOC_ENST00000273395.4_Missense_Mutation_p.N686K|BOC_ENST00000355385.3_Missense_Mutation_p.N685K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	685	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.N685K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGCTCTGAACATGCTGGGGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											71	78	76					3																	112998705		2203	4300	6503	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2055C>A	3.37:g.112998705C>A	ENSP00000418663:p.Asn685Lys		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214663	0.79352	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.62232	0.04;0.04;0.04	5.53	2.76	0.32466	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.153118	0.56097	D	0.000032	D	0.82600	0.5072	H	0.95504	3.68	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.993	D	0.84372	0.0544	10	0.66056	D	0.02	.	10.0769	0.42366	0.0:0.783:0.0:0.217	.	686;685	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	K	685;686;685	ENSP00000418663:N685K;ENSP00000273395:N686K;ENSP00000347546:N685K	ENSP00000273395:N686K	N	+	3	2	BOC	114481395	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.830000	0.39131	0.690000	0.31570	0.563000	0.77884	AAC		0.602	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		A	112998705	C	A	112998705	3	1	549	1	0	0	0	0	1	0	0	0	1481	477	17	4	2097	4	BOC	3	112998705	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10		112998705	85023725	17	29534											
MUC13	56667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	124635228	124635228	+	Silent	SNP	C	C	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr3:124635228C>T	ENST00000311075.3	-	6	935	c.897G>A	c.(895-897)aaG>aaA	p.K299K		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	300	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)	p.K299K(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAGTCACAGTCTTCTCATTGT	0.333																																																1	Substitution - coding silent(1)	kidney(1)											118	108	112					3																	124635228		2202	4299	6501	SO:0001819	synonymous_variant	56667			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.897G>A	3.37:g.124635228C>T			Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37																																																																																					0.333	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		T	124635228	C	T	124635228	2	4	549	1	0	0	0	0	0	0	0	1	9973	912	32	2		2	MUC13	3	124635228	Silent	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	11636523	124635228	73387202	18	29535											
PAPSS1	9061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	108574727	108574727	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr4:108574727C>T	ENST00000265174.4	-	9	1429	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	386					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.R386Q(2)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCAATAAACTCGATCCAAGAC	0.348																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											141	124	130					4																	108574727		2203	4300	6503	SO:0001583	missense	9061			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1157G>A	4.37:g.108574727C>T	ENSP00000265174:p.Arg386Gln		O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212722	0.95069	.	.	ENSG00000138801	ENST00000265174	T	0.23348	1.91	5.47	5.47	0.80525	Sulphate adenylyltransferase (2);PUA-like domain (1);	0.114505	0.56097	D	0.000027	T	0.31263	0.0791	M	0.78801	2.425	0.80722	D	1	P	0.37441	0.595	B	0.23419	0.046	T	0.34354	-0.9832	10	0.66056	D	0.02	-11.9101	19.3341	0.94307	0.0:1.0:0.0:0.0	.	386	O43252	PAPS1_HUMAN	Q	386	ENSP00000265174:R386Q	ENSP00000265174:R386Q	R	-	2	0	PAPSS1	108794176	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.442000	0.59988	2.558000	0.86282	0.557000	0.71058	CGA		0.348	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			T	108574727	C	T	108574727	3	4	549	1	0	0	0	0	1	0	0	0	11436	884	31	1	733	1	PAPSS1	4	108574727	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10		108574727	82579549	19	29536											
GLRA3	8001	broad.mit.edu;ucsc.edu	37	4	175649781	175649781	+	Silent	SNP	A	A	G			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr4:175649781A>G	ENST00000274093.3	-	4	838	c.336T>C	c.(334-336)ccT>ccC	p.P112P	GLRA3_ENST00000340217.5_Silent_p.P112P|GLRA3_ENST00000436738.1_5'UTR	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	112					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.P112P(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	AAGAGTCGTCAGGATATTCAC	0.398																																																1	Substitution - coding silent(1)	kidney(1)											99	109	106					4																	175649781		2203	4300	6503	SO:0001819	synonymous_variant	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.336T>C	4.37:g.175649781A>G			D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	CCDS3822.1																																																																																				0.398	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			G	175649781	A	G	175649781	2	3	549	1	0	0	0	0	0	0	0	1	6458	175	7	3		3	GLRA3	4	175649781	Silent	SNP	A	TCGA-CJ-5683-01A-11D-1534-10	67075054	175649781	15504495	20	29537											
SLC35A4	113829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139946853	139946853	+	Silent	SNP	T	T	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr5:139946853T>C	ENST00000514199.1	+	2	1785	c.99T>C	c.(97-99)caT>caC	p.H33H	SLC35A4_ENST00000323146.3_Silent_p.H33H|APBB3_ENST00000508496.2_5'Flank|APBB3_ENST00000357560.4_5'Flank|APBB3_ENST00000358580.5_5'Flank|APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000508770.1_3'UTR			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	33	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)	p.H33H(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGTGCCCATGCCCCATTGC	0.632																																																1	Substitution - coding silent(1)	kidney(1)											82	76	78					5																	139946853		2203	4300	6503	SO:0001819	synonymous_variant	113829			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"Solute carriers"	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.99T>C	5.37:g.139946853T>C			A8K013	Silent	SNP	ENST00000514199.1	37	CCDS4231.1																																																																																				0.632	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		C	139946853	T	C	139946853	2	2	549	1	0	0	0	0	0	0	0	1	14579	1461	51	3		3	SLC35A4	5	139946853	Silent	SNP	T	TCGA-CJ-5683-01A-11D-1534-10		139946853	40968407	21	29538											
PCDHB14	56122	broad.mit.edu;hgsc.bcm.edu	37	5	140605198	140605198	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr5:140605198delG	ENST00000239449.4	+	1	2121	c.2121delG	c.(2119-2121)ctgfs	p.L707fs	PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.L554fs	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	707					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGCTCCTGTTCGTGGCGG	0.701																																					Ovarian(141;50 1831 27899 33809 37648)											0													75	89	84					5																	140605198		2195	4282	6477	SO:0001589	frameshift_variant	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2121delG	5.37:g.140605198delG	ENSP00000239449:p.Leu707fs		B4DPE2|Q4FZA4|Q4KN11	Frame_Shift_Del	DEL	ENST00000239449.4	37	CCDS4256.1																																																																																				0.701	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		-	140605198	G	-	140605198	7	5	549	1	0	1	0	1	0	0	0	0	11541	1364	48	0	2123	0	PCDHB14	5	140605198	Frame_Shift_Del	DEL	G	TCGA-CJ-5683-01A-11D-1534-10	658345	140605198	40310062	22	29539											
TCP11	6954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35086231	35086231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr6:35086231G>A	ENST00000512012.1	-	9	1483	c.1327C>T	c.(1327-1329)Cag>Tag	p.Q443*	TCP11_ENST00000444780.2_Nonsense_Mutation_p.Q451*|TCP11_ENST00000373979.2_Nonsense_Mutation_p.Q381*|TCP11_ENST00000244645.3_Nonsense_Mutation_p.Q381*|TCP11_ENST00000373974.4_Nonsense_Mutation_p.Q410*|TCP11_ENST00000418521.2_Nonsense_Mutation_p.Q380*|TCP11_ENST00000412155.2_Nonsense_Mutation_p.Q405*|TCP11_ENST00000311875.5_Nonsense_Mutation_p.Q456*			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	443					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q381*(1)|p.Q456*(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGAGACCGCTGCACACCAAGA	0.458																																																2	Substitution - Nonsense(2)	kidney(2)											76	73	74					6																	35086231		2203	4300	6503	SO:0001587	stop_gained	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1327C>T	6.37:g.35086231G>A	ENSP00000425995:p.Gln443*		B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Nonsense_Mutation	SNP	ENST00000512012.1	37		.	.	.	.	.	.	.	.	.	.	G	40	8.278068	0.98740	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012	.	.	.	5.42	5.42	0.78866	.	0.284856	0.30940	N	0.008571	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	14.5631	0.68153	0.0:0.0:0.8532:0.1468	.	.	.	.	X	381;405;381;456;451;410;380;443	.	ENSP00000244645:Q381X	Q	-	1	0	TCP11	35194209	0.902000	0.30710	1.000000	0.80357	0.985000	0.73830	3.057000	0.49931	2.537000	0.85549	0.563000	0.77884	CAG		0.458	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		A	35086231	G	A	35086231	4	1	549	1	0	0	0	0	0	1	0	0	15718	1328	46	2	188	2	TCP11	6	35086231	Nonsense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10		35086231	136028836	23	29540											
HTR1E	3354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	87725912	87725912	+	Missense_Mutation	SNP	G	G	A	rs61735411		TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr6:87725912G>A	ENST00000305344.5	+	2	1563	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	287					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R287Q(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ACCAGGGAACGGAAGGCAGCA	0.502																																																1	Substitution - Missense(1)	kidney(1)											175	162	167					6																	87725912		2203	4300	6503	SO:0001583	missense	3354				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.860G>A	6.37:g.87725912G>A	ENSP00000307766:p.Arg287Gln		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979157	0.53827	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.72835	-0.69;-0.69	4.44	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000016	T	0.75384	0.3842	M	0.68593	2.085	0.47819	D	0.999527	D	0.89917	1.0	D	0.74674	0.984	T	0.77153	-0.2692	10	0.49607	T	0.09	.	13.4304	0.61051	0.0:0.0:0.8416:0.1583	rs61735411	287	P28566	5HT1E_HUMAN	Q	287	ENSP00000307766:R287Q;ENSP00000358597:R287Q	ENSP00000307766:R287Q	R	+	2	0	HTR1E	87782631	1.000000	0.71417	0.997000	0.53966	0.314000	0.28054	9.219000	0.95173	0.821000	0.34540	0.205000	0.17691	CGG		0.502	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		A	87725912	G	A	87725912	3	1	549	1	0	0	0	0	1	0	0	0	7441	1116	39	1	862	1	HTR1E	6	87725912	Missense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	52639681	87725912	83389155	24	29541											
FBXO30	84085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	146126842	146126842	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr6:146126842T>C	ENST00000237281.4	-	2	866	c.700A>G	c.(700-702)Aaa>Gaa	p.K234E		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	234							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K234E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TCTTGGTCTTTCAAGTTTTGA	0.393																																																1	Substitution - Missense(1)	kidney(1)											191	193	192					6																	146126842		2203	4300	6503	SO:0001583	missense	84085			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.700A>G	6.37:g.146126842T>C	ENSP00000237281:p.Lys234Glu		Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	T	1.972	-0.436340	0.04636	.	.	ENSG00000118496	ENST00000237281	T	0.19250	2.16	5.62	5.62	0.85841	.	0.637186	0.18398	N	0.142437	T	0.10766	0.0263	L	0.54323	1.7	0.42127	D	0.991457	B	0.20368	0.044	B	0.15870	0.014	T	0.04242	-1.0966	10	0.31617	T	0.26	-17.8953	11.8513	0.52413	0.1382:0.0:0.0:0.8618	.	234	Q8TB52	FBX30_HUMAN	E	234	ENSP00000237281:K234E	ENSP00000237281:K234E	K	-	1	0	FBXO30	146168535	0.992000	0.36948	0.926000	0.36857	0.568000	0.35870	3.538000	0.53597	2.255000	0.74692	0.533000	0.62120	AAA		0.393	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			C	146126842	T	C	146126842	3	2	549	1	0	0	0	0	1	0	0	0	5742	1792	62	3	1545	3	FBXO30	6	146126842	Missense_Mutation	SNP	T	TCGA-CJ-5683-01A-11D-1534-10	58400930	146126842	24988225	25	29542											
SDK1	221935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	4218194	4218194	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr7:4218194G>A	ENST00000404826.2	+	35	5213	c.5074G>A	c.(5074-5076)Gtg>Atg	p.V1692M	SDK1_ENST00000389531.3_Missense_Mutation_p.V1672M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1692	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1692M(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGCGCGCCCGTGGAGGTCTT	0.592																																																1	Substitution - Missense(1)	kidney(1)											74	83	80					7																	4218194		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5074G>A	7.37:g.4218194G>A	ENSP00000385899:p.Val1692Met		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461279	0.63513	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57752	0.38;0.38	5.09	5.09	0.68999	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.71476	0.3344	M	0.80183	2.485	0.38647	D	0.951745	D;D;D	0.76494	0.978;0.992;0.999	P;P;D	0.63113	0.738;0.557;0.911	T	0.74028	-0.3796	10	0.36615	T	0.2	.	17.0409	0.86489	0.0:0.0:1.0:0.0	.	1672;179;1692	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	M	1692;1672	ENSP00000385899:V1692M;ENSP00000374182:V1672M	ENSP00000374182:V1672M	V	+	1	0	SDK1	4184720	1.000000	0.71417	0.901000	0.35422	0.370000	0.29829	5.763000	0.68818	2.525000	0.85131	0.655000	0.94253	GTG		0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4218194	G	A	4218194	3	1	549	1	0	0	0	0	1	0	0	0	13974	1145	40	1	5212	1	SDK1	7	4218194	Missense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10		4218194	154920469	26	29543											
RBAK	57786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	5105059	5105059	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr7:5105059A>G	ENST00000353796.3	+	6	2296	c.1972A>G	c.(1972-1974)Aaa>Gaa	p.K658E	RBAK_ENST00000396912.1_Missense_Mutation_p.K658E|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	658	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K658E(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGAATGTGGGAAAGTCTTTTC	0.408																																																1	Substitution - Missense(1)	kidney(1)											114	122	119					7																	5105059		2203	4300	6503	SO:0001583	missense	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1972A>G	7.37:g.5105059A>G	ENSP00000275423:p.Lys658Glu		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847343	0.71603	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.27104	1.69;1.69	3.81	3.81	0.43845	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000088	T	0.48447	0.1500	M	0.83012	2.62	0.32662	N	0.517907	D	0.61080	0.989	D	0.63381	0.914	T	0.64740	-0.6336	8	.	.	.	.	11.1491	0.48447	1.0:0.0:0.0:0.0	rs34448026	658	Q9NYW8	RBAK_HUMAN	E	658	ENSP00000275423:K658E;ENSP00000380120:K658E	.	K	+	1	0	RBAK	5071585	0.995000	0.38212	0.993000	0.49108	0.979000	0.70002	6.613000	0.74192	1.952000	0.56665	0.528000	0.53228	AAA		0.408	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		G	5105059	A	G	5105059	3	3	549	1	0	0	0	0	1	0	0	0	13106	247	9	3	1986	3	RBAK	7	5105059	Missense_Mutation	SNP	A	TCGA-CJ-5683-01A-11D-1534-10	886865	5105059	154033604	27	29544											
TNRC18	84629	broad.mit.edu	37	7	5352305	5352305	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr7:5352305delG	ENST00000430969.1	-	27	8565	c.8217delC	c.(8215-8217)cccfs	p.P2739fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.P2739fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2739							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTGAGCCTTGGGCTGCAGAG	0.736																																																0													18	20	20					7																	5352305		1465	3290	4755	SO:0001589	frameshift_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8217delC	7.37:g.5352305delG	ENSP00000395538:p.Pro2739fs		A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	CCDS47534.1																																																																																				0.736	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				-	5352305	G	-	5352305	7	5	549	1	0	1	0	1	0	0	0	0	16344	1335	47	0	705	0	TNRC18	7	5352305	Frame_Shift_Del	DEL	G	TCGA-CJ-5683-01A-11D-1534-10	247246	5352305	153786358	28	29545											
CCDC126	90693	broad.mit.edu;ucsc.edu	37	7	23650959	23650959	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr7:23650959A>C	ENST00000307471.3	+	3	482	c.25A>C	c.(25-27)Aat>Cat	p.N9H	CCDC126_ENST00000409765.1_Missense_Mutation_p.N9H|CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Missense_Mutation_p.N9H	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	9					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.N9H(1)		endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						CTCAAGAAAAAATATGTCCCA	0.338																																																1	Substitution - Missense(1)	kidney(1)											79	81	80					7																	23650959		2203	4300	6503	SO:0001583	missense	90693			BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.25A>C	7.37:g.23650959A>C	ENSP00000304355:p.Asn9His		A8K1J6|Q6UWP1|Q75MQ6	Missense_Mutation	SNP	ENST00000307471.3	37	CCDS5384.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.856919	0.51376	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.65	4.49	0.54785	.	0.478186	0.23724	N	0.045200	T	0.63082	0.2481	L	0.54323	1.7	0.38585	D	0.950288	B	0.28880	0.226	B	0.40477	0.33	T	0.64478	-0.6398	9	0.54805	T	0.06	-2.2581	10.103	0.42517	0.7322:0.0:0.0:0.2678	.	9	Q96EE4	CC126_HUMAN	H	9	.	ENSP00000304355:N9H	N	+	1	0	CCDC126	23617484	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	5.081000	0.64444	0.950000	0.37743	0.455000	0.32223	AAT		0.338	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	NM_138771		C	23650959	A	C	23650959	3	2	549	1	0	0	0	0	1	0	0	0	2764	14	1	5	27	5	CCDC126	7	23650959	Missense_Mutation	SNP	A	TCGA-CJ-5683-01A-11D-1534-10	18298654	23650959	135487704	29	29546											
AKAP9	10142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91709305	91709305	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr7:91709305A>T	ENST00000359028.2	+	32	8119	c.7894A>T	c.(7894-7896)Act>Tct	p.T2632S	AKAP9_ENST00000358100.2_Missense_Mutation_p.T2632S|AKAP9_ENST00000356239.3_Missense_Mutation_p.T2620S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2632	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.T2632S(1)|p.T2620S(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAAATGCATACTAGTTTGAT	0.323			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	kidney(2)											60	65	64					7																	91709305		2202	4299	6501	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7894A>T	7.37:g.91709305A>T	ENSP00000351922:p.Thr2632Ser		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	A	0.389	-0.924603	0.02377	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03094	4.13;4.13;4.13;4.05	4.63	-9.16	0.00694	.	0.919567	0.08926	N	0.873681	T	0.01092	0.0036	N	0.05124	-0.11	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.45396	-0.9264	10	0.07644	T	0.81	.	0.5793	0.00709	0.2:0.1946:0.2025:0.4029	.	2624;2632;2620;2612	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	S	2620;2632;2632;2624;466	ENSP00000348573:T2620S;ENSP00000351922:T2632S;ENSP00000350813:T2632S;ENSP00000378042:T466S	ENSP00000348573:T2620S	T	+	1	0	AKAP9	91547241	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.269000	0.02834	-1.309000	0.02315	-2.334000	0.00248	ACT		0.323	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		T	91709305	A	T	91709305	3	4	549	1	0	0	0	0	1	0	0	0	459	391	14	5	7980	5	AKAP9	7	91709305	Missense_Mutation	SNP	A	TCGA-CJ-5683-01A-11D-1534-10	68058346	91709305	67429358	30	29547											
AZGP1	563	broad.mit.edu	37	7	99573623	99573623	+	Silent	SNP	G	G	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr7:99573623G>T	ENST00000292401.4	-	1	157	c.21C>A	c.(19-21)gtC>gtA	p.V7V	AZGP1_ENST00000411734.1_Silent_p.V4V	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	7					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)	p.V7V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAGACAGCAGGACAGGCACCA	0.587																																																1	Substitution - coding silent(1)	kidney(1)											170	163	166					7																	99573623		2203	4300	6503	SO:0001819	synonymous_variant	563			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.21C>A	7.37:g.99573623G>T			D6W5T8|O60386|Q5XKQ4|Q8N4N0	Silent	SNP	ENST00000292401.4	37	CCDS5680.1																																																																																				0.587	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		T	99573623	G	T	99573623	2	4	549	1	0	0	0	0	0	0	0	1	1239	1161	41	4		4	AZGP1	7	99573623	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	7864318	99573623	59565040	31	29548											
EMID2	136227	hgsc.bcm.edu	37	7	101063320	101063320	+	RNA	SNP	C	C	T	rs369792846		TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr7:101063320C>T	ENST00000397927.3	+	0	434				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GGCTCGGAGACGGTGGTCCAG	0.647																																																0								C	MET/THR	0,4164		0,0,2082	28	38	35		221	4.9	1	7		35	1,8411		0,1,4205	no	missense	EMID2	NM_133457.2	81	0,1,6287	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	74/440	101063320	1,12575	2082	4206	6288			136227			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063320C>T			Q32M90	Missense_Mutation	SNP	ENST00000397927.3	37		.	.	.	.	.	.	.	.	.	.	C	26.0	4.694517	0.88830	0.0	1.19E-4	ENSG00000160963	ENST00000313669	T	0.46451	0.87	4.95	4.95	0.65309	EMI domain (2);	0.000000	0.38217	U	0.001773	T	0.67524	0.2902	M	0.84326	2.69	0.32682	N	0.515394	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78326	-0.2247	10	0.87932	D	0	.	15.7219	0.77718	0.0:1.0:0.0:0.0	.	74;74	Q96A83;C9JPW4	EMID2_HUMAN;.	M	74	ENSP00000318234:T74M	ENSP00000318234:T74M	T	+	2	0	EMID2	100850040	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.079000	0.76829	2.310000	0.77875	0.558000	0.71614	ACG		0.647	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		T	101063320	C	T	101063320	1	4	549	0	1	0	0	0	0	0	0	0	5094	536	19	1		1	EMID2	7	101063320	RNA	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	1489697	101063320	58075343	32	29549											
CTAGE6P	340307	broad.mit.edu	37	7	143453714	143453714	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr7:143453714G>C	ENST00000470691.2	-	1	1075	c.1038C>G	c.(1036-1038)gaC>gaG	p.D346E	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	346						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					CCTTTGTTTTGTCCACTTCAG	0.318																																																0													7	7	7					7																	143453714		1731	3838	5569	SO:0001583	missense	0			BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"CTAGE family, member 6, pseudogene"	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1038C>G	7.37:g.143453714G>C	ENSP00000474388:p.Asp346Glu		A4FU29|Q3ZCM5	Missense_Mutation	SNP	ENST00000470691.2	37																																																																																					0.318	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561		C	143453714	G	C	143453714	3	2	549	1	0	0	0	0	1	0	0	0	3997	1368	48	4	1299	4	CTAGE6P	7	143453714	Missense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	42390394	143453714	15684949	33	29550											
MLL3	58508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151877902	151877902	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr7:151877902T>C	ENST00000262189.6	-	36	7261	c.7043A>G	c.(7042-7044)cAg>cGg	p.Q2348R	KMT2C_ENST00000355193.2_Missense_Mutation_p.Q2348R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2348					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q2348R(2)									ACCAGAGAACTGCTGGCCTTG	0.488																																																2	Substitution - Missense(2)	kidney(2)											98	86	90					7																	151877902		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7043A>G	7.37:g.151877902T>C	ENSP00000262189:p.Gln2348Arg		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	8.430	0.848402	0.17034	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83506	-1.73;-1.73	5.25	1.34	0.21922	.	0.524101	0.15729	N	0.247528	T	0.75774	0.3895	L	0.51422	1.61	0.80722	D	1	B;P	0.38420	0.361;0.63	B;B	0.29077	0.081;0.098	T	0.74435	-0.3666	10	0.52906	T	0.07	.	14.8266	0.70117	0.0:0.0:0.5742:0.4258	.	2348;1409	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	R	2348	ENSP00000262189:Q2348R;ENSP00000347325:Q2348R	ENSP00000262189:Q2348R	Q	-	2	0	MLL3	151508835	1.000000	0.71417	0.143000	0.22291	0.893000	0.52053	1.494000	0.35616	0.397000	0.25310	0.528000	0.53228	CAG		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			C	151877902	T	C	151877902	3	2	549	1	0	0	0	0	1	0	0	0	9624	1580	55	3	7788	3	MLL3	7	151877902	Missense_Mutation	SNP	T	TCGA-CJ-5683-01A-11D-1534-10	8424188	151877902	7260761	34	29551											
NOM1	64434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	156759742	156759742	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr7:156759742G>A	ENST00000275820.3	+	9	2269	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	752	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A752T(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TCATCTGGTGGCCCACTTGTT	0.388																																																1	Substitution - Missense(1)	kidney(1)											142	130	134					7																	156759742		2203	4300	6503	SO:0001583	missense	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.2254G>A	7.37:g.156759742G>A	ENSP00000275820:p.Ala752Thr		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	7.675	0.687856	0.14973	.	.	ENSG00000146909	ENST00000275820	T	0.35421	1.31	4.97	4.09	0.47781	Initiation factor eIF-4 gamma, MA3 (3);	0.459092	0.25081	N	0.033297	T	0.26412	0.0645	L	0.38692	1.165	0.34351	D	0.689855	B	0.28400	0.21	B	0.26094	0.066	T	0.32322	-0.9911	10	0.28530	T	0.3	-20.584	9.6189	0.39710	0.1601:0.0:0.8399:0.0	.	752	Q5C9Z4	NOM1_HUMAN	T	752	ENSP00000275820:A752T	ENSP00000275820:A752T	A	+	1	0	NOM1	156452503	0.994000	0.37717	0.997000	0.53966	0.677000	0.39632	3.930000	0.56522	1.198000	0.43158	0.655000	0.94253	GCC		0.388	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		A	156759742	G	A	156759742	3	1	549	1	0	0	0	0	1	0	0	0	10532	1203	42	2	2288	2	NOM1	7	156759742	Missense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	4881840	156759742	2378921	35	29552											
MTMR7	9108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	17157530	17157530	+	Silent	SNP	G	G	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr8:17157530G>A	ENST00000180173.5	-	14	1858	c.1824C>T	c.(1822-1824)gaC>gaT	p.D608D	MTMR7_ENST00000398099.3_Silent_p.D199D|VPS37A_ENST00000521162.1_3'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	608					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.D608D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTTTCAGATTGTCTTGGGTTA	0.498																																																1	Substitution - coding silent(1)	kidney(1)											122	113	116					8																	17157530		2203	4300	6503	SO:0001819	synonymous_variant	9108			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1824C>T	8.37:g.17157530G>A			A1L4K9|B4DG87|Q68DX4	Silent	SNP	ENST00000180173.5	37	CCDS34851.1																																																																																				0.498	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		A	17157530	G	A	17157530	2	1	549	1	0	0	0	0	0	0	0	1	9950	1368	48	2		2	MTMR7	8	17157530	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10		17157530	129206492	36	29553											
DENND4C	55667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	19305459	19305459	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr9:19305459delA	ENST00000380432.2	+	6	746	c.713delA	c.(712-714)tatfs	p.Y238fs	DENND4C_ENST00000434457.2_Frame_Shift_Del_p.Y474fs|DENND4C_ENST00000602925.1_Frame_Shift_Del_p.Y474fs			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	238	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GACTCAAGGTATTTTGATCTT	0.383																																																0													212	201	205					9																	19305459		2203	4300	6503	SO:0001589	frameshift_variant	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.713delA	9.37:g.19305459delA	ENSP00000369797:p.Tyr238fs		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Frame_Shift_Del	DEL	ENST00000380432.2	37																																																																																					0.383	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		-	19305459	A	-	19305459	7	5	549	1	0	1	0	1	0	0	0	0	4437	449	16	0	735	0	DENND4C	9	19305459	Frame_Shift_Del	DEL	A	TCGA-CJ-5683-01A-11D-1534-10		19305459	121907972	37	29554											
PCDH15	65217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	55779999	55779999	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr10:55779999A>T	ENST00000320301.6	-	20	3098	c.2704T>A	c.(2704-2706)Tat>Aat	p.Y902N	PCDH15_ENST00000361849.3_Missense_Mutation_p.Y902N|PCDH15_ENST00000373955.1_Missense_Mutation_p.Y902N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.Y880N|PCDH15_ENST00000414778.1_Missense_Mutation_p.Y907N|PCDH15_ENST00000395438.1_Missense_Mutation_p.Y902N|PCDH15_ENST00000437009.1_Missense_Mutation_p.Y831N|PCDH15_ENST00000395445.1_Missense_Mutation_p.Y909N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.Y909N|PCDH15_ENST00000409834.1_Missense_Mutation_p.Y513N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.Y902N|PCDH15_ENST00000395432.2_Missense_Mutation_p.Y865N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	902	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.Y907N(2)|p.Y902N(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTGTTCCATAAATATCAAAG	0.418										HNSCC(58;0.16)																																						4	Substitution - Missense(4)	kidney(4)											151	138	142					10																	55779999		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2704T>A	10.37:g.55779999A>T	ENSP00000322604:p.Tyr902Asn		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637672	0.47049	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	6.06	4.96	0.65561	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22475	0.0542	N	0.03194	-0.395	0.32456	N	0.544729	P;B;B;B;P;P;P;B;B;B;B;B;B;B	0.46987	0.853;0.409;0.409;0.1;0.888;0.584;0.741;0.041;0.124;0.124;0.124;0.409;0.062;0.409	P;B;B;B;P;B;P;B;B;B;B;B;B;B	0.52710	0.568;0.348;0.348;0.115;0.707;0.348;0.568;0.14;0.247;0.247;0.247;0.348;0.085;0.348	T	0.06625	-1.0816	9	0.10902	T	0.67	.	6.9538	0.24560	0.5418:0.343:0.0:0.1152	.	880;902;902;907;831;865;902;902;909;909;902;907;902;902	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	909;907;902;902;513;909;865;902;880;902;902;907;831;902	ENSP00000363076:Y909N;ENSP00000410304:Y907N;ENSP00000378826:Y902N;ENSP00000386693:Y513N;ENSP00000378832:Y909N;ENSP00000378820:Y865N;ENSP00000354950:Y902N;ENSP00000378821:Y880N;ENSP00000322604:Y902N;ENSP00000378818:Y902N;ENSP00000412628:Y831N;ENSP00000363066:Y902N	ENSP00000322604:Y902N	Y	-	1	0	PCDH15	55450005	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.926000	0.56491	2.323000	0.78572	0.528000	0.53228	TAT		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		T	55779999	A	T	55779999	3	4	549	1	0	0	0	0	1	0	0	0	11513	362	13	5	4838	5	PCDH15	10	55779999	Missense_Mutation	SNP	A	TCGA-CJ-5683-01A-11D-1534-10		55779999	79754748	38	29555											
TPH1	7166	broad.mit.edu;ucsc.edu	37	11	18045491	18045491	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr11:18045491C>A	ENST00000250018.2	-	8	1532	c.970G>T	c.(970-972)Gat>Tat	p.D324Y	RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000525406.1_5'Flank|TPH1_ENST00000341556.2_Missense_Mutation_p.D324Y	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	324					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.D324Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AGCTGTCCATCTTGTTTACAT	0.343																																																1	Substitution - Missense(1)	kidney(1)											124	118	120					11																	18045491		2200	4293	6493	SO:0001583	missense	7166			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.970G>T	11.37:g.18045491C>A	ENSP00000250018:p.Asp324Tyr		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241598	0.95272	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99574	-6.2;-6.2	5.92	5.92	0.95590	Aromatic amino acid hydroxylase, C-terminal (3);	0.129096	0.64402	D	0.000001	D	0.99648	0.9870	M	0.90759	3.145	0.80722	D	1	D	0.61697	0.99	P	0.59357	0.856	D	0.98281	1.0508	10	0.87932	D	0	-16.9992	20.3128	0.98645	0.0:1.0:0.0:0.0	.	324	P17752	TPH1_HUMAN	Y	324	ENSP00000250018:D324Y;ENSP00000343550:D324Y	ENSP00000250018:D324Y	D	-	1	0	TPH1	18002067	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.773000	0.85462	2.808000	0.96608	0.561000	0.74099	GAT		0.343	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		A	18045491	C	A	18045491	3	1	549	1	0	0	0	0	1	0	0	0	16406	913	32	4	376	4	TPH1	11	18045491	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10		18045491	116961025	39	29556											
FBXO3	26273	broad.mit.edu;ucsc.edu	37	11	33790514	33790514	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr11:33790514C>A	ENST00000265651.3	-	3	259	c.241G>T	c.(241-243)Gat>Tat	p.D81Y	FBXO3_ENST00000448981.2_Missense_Mutation_p.D81Y|FBXO3_ENST00000533103.1_5'UTR|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000530401.1_Missense_Mutation_p.D76Y|FBXO3_ENST00000534136.1_Missense_Mutation_p.D81Y	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	81					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.D81Y(1)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GAGTAAGTATCTATGAAGAGA	0.338																																																1	Substitution - Missense(1)	kidney(1)											189	185	186					11																	33790514		2202	4298	6500	SO:0001583	missense	26273			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.241G>T	11.37:g.33790514C>A	ENSP00000265651:p.Asp81Tyr		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287289	0.40494	.	.	ENSG00000110429	ENST00000265651;ENST00000321458;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.99	5.99	0.97316	F-box domain, Skp2-like (1);	0.569812	0.21575	N	0.072350	T	0.36744	0.0978	N	0.14661	0.345	0.33385	D	0.575313	B;B;B	0.18968	0.032;0.032;0.019	B;B;B	0.11329	0.005;0.005;0.006	T	0.44605	-0.9317	10	0.45353	T	0.12	-13.2404	12.866	0.57939	0.0:0.9238:0.0:0.0762	.	76;81;81	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	Y	81;78;76;81;81	ENSP00000265651:D81Y;ENSP00000433781:D76Y;ENSP00000431745:D81Y;ENSP00000408836:D81Y	ENSP00000265651:D81Y	D	-	1	0	FBXO3	33747090	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	3.087000	0.50167	2.840000	0.97914	0.655000	0.94253	GAT		0.338	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		A	33790514	C	A	33790514	3	1	549	1	0	0	0	0	1	0	0	0	5741	913	32	4	1219	4	FBXO3	11	33790514	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	15745023	33790514	101216002	40	29557											
SYT12	91683	hgsc.bcm.edu	37	11	66816101	66816101	+	Missense_Mutation	SNP	G	G	A	rs141165304		TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr11:66816101G>A	ENST00000393946.2	+	11	2301	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	SYT12_ENST00000527043.1_Missense_Mutation_p.R380H|SYT12_ENST00000525457.1_Missense_Mutation_p.R380H			Q8IV01	SYT12_HUMAN	synaptotagmin XII	380	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						AGCGACGGCCGTGGGGACAAC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18972	0.0		0.0	False		,,,				2504	0.0				Ovarian(65;2862 3307)											0								G	HIS/ARG,HIS/ARG	0,4400		0,0,2200	104	80	88		1139,1139	3.7	1	11	dbSNP_134	88	6,8584	5.0+/-18.6	0,6,4289	yes	missense,missense	SYT12	NM_001177880.1,NM_177963.3	29,29	0,6,6489	AA,AG,GG		0.0698,0.0,0.0462	probably-damaging,probably-damaging	380/422,380/422	66816101	6,12984	2200	4295	6495	SO:0001583	missense	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.1139G>A	11.37:g.66816101G>A	ENSP00000377520:p.Arg380His			Missense_Mutation	SNP	ENST00000393946.2	37	CCDS8154.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.90	1.480761	0.26598	0.0	6.98E-4	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.09163	3.01;3.01;3.01	4.59	3.68	0.42216	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	L	0.54965	1.715	0.58432	D	0.999999	B	0.15930	0.015	B	0.17098	0.017	T	0.07290	-1.0780	10	0.07325	T	0.83	.	10.7693	0.46312	0.095:0.0:0.905:0.0	.	380	Q8IV01	SYT12_HUMAN	H	380	ENSP00000377520:R380H;ENSP00000431400:R380H;ENSP00000435316:R380H	ENSP00000377520:R380H	R	+	2	0	SYT12	66572677	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.596000	0.67570	1.061000	0.40601	0.462000	0.41574	CGT		0.627	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		A	66816101	G	A	66816101	3	1	549	1	0	0	0	0	1	0	0	0	15473	1145	40	1	1165	1	SYT12	11	66816101	Missense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	33025587	66816101	68190415	41	29558											
LRP5	4041	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68183829	68183829	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr11:68183829C>A	ENST00000294304.7	+	13	2967	c.2861C>A	c.(2860-2862)tCt>tAt	p.S954Y		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	954	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S954Y(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCAGAAATCTGCCATCAGT	0.587																																																1	Substitution - Missense(1)	kidney(1)											101	92	95					11																	68183829		2200	4294	6494	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2861C>A	11.37:g.68183829C>A	ENSP00000294304:p.Ser954Tyr		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774110	0.49786	.	.	ENSG00000162337	ENST00000294304	D	0.91464	-2.85	4.49	0.372	0.16173	Six-bladed beta-propeller, TolB-like (1);	1.245830	0.05989	N	0.645741	D	0.87410	0.6170	L	0.56124	1.755	0.19300	N	0.999977	P;P	0.36199	0.543;0.543	B;B	0.39217	0.294;0.294	T	0.75048	-0.3455	10	0.52906	T	0.07	.	2.996	0.05998	0.1799:0.436:0.264:0.1201	.	954;954	Q9UES7;O75197	.;LRP5_HUMAN	Y	954	ENSP00000294304:S954Y	ENSP00000294304:S954Y	S	+	2	0	LRP5	67940405	0.000000	0.05858	0.321000	0.25320	0.926000	0.56050	0.693000	0.25497	-0.089000	0.12484	-0.165000	0.13383	TCT		0.587	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		A	68183829	C	A	68183829	3	1	549	1	0	0	0	0	1	0	0	0	8962	913	32	4	2911	4	LRP5	11	68183829	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	1367728	68183829	66822687	42	29559											
CLPB	81570	broad.mit.edu;ucsc.edu	37	11	72012879	72012879	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr11:72012879C>T	ENST00000294053.3	-	12	1560	c.1387G>A	c.(1387-1389)Gtg>Atg	p.V463M	CLPB_ENST00000437826.2_Missense_Mutation_p.V418M|CLPB_ENST00000543042.1_Missense_Mutation_p.V262M|CLPB_ENST00000340729.5_Missense_Mutation_p.V404M|CLPB_ENST00000538039.1_Missense_Mutation_p.V433M|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000538021.1_Missense_Mutation_p.V71M	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	463					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.V463M(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ATGGTGAGCACATCTGGATGG	0.557																																																1	Substitution - Missense(1)	kidney(1)											194	170	178					11																	72012879		2200	4293	6493	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1387G>A	11.37:g.72012879C>T	ENSP00000294053:p.Val463Met		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.944915|4.944915	0.92593|0.92593	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000544382|ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021	.|T;T;T;T;T;T;T	.|0.69685	.|-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.39|5.39	5.39|5.39	0.77823|0.77823	.|ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87943|0.87943	0.6305|0.6305	H|H	0.95884|0.95884	3.735|3.735	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|0.994;0.994;0.999;0.998;1.0;0.993	D|D	0.91633|0.91633	0.5320|0.5320	5|10	.|0.87932	.|D	.|0	-16.9357|-16.9357	17.7622|17.7622	0.88467|0.88467	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|262;404;418;433;463;71	.|B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078;Q7Z777	.|.;.;.;.;CLPB_HUMAN;.	I|M	240|463;433;468;404;418;262;71	.|ENSP00000294053:V463M;ENSP00000441518:V433M;ENSP00000443822:V468M;ENSP00000340385:V404M;ENSP00000407296:V418M;ENSP00000439746:V262M;ENSP00000445180:V71M	.|ENSP00000294053:V463M	M|V	-|-	3|1	0|0	CLPB|CLPB	71690527|71690527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.537000|2.537000	0.85549|0.85549	0.655000|0.655000	0.94253|0.94253	ATG|GTG		0.557	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		T	72012879	C	T	72012879	3	4	549	1	0	0	0	0	1	0	0	0	3553	478	17	2	760	2	CLPB	11	72012879	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	3829050	72012879	62993637	43	29560											
MOGAT2	80168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	75438650	75438650	+	Silent	SNP	G	G	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr11:75438650G>T	ENST00000198801.5	+	3	511	c.441G>T	c.(439-441)cgG>cgT	p.R147R	MOGAT2_ENST00000526712.1_Silent_p.R65R	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	147					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.R147R(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TGTGGTTCCGGGCCCCCTTCT	0.532																																																1	Substitution - coding silent(1)	kidney(1)											117	111	113					11																	75438650		2200	4293	6493	SO:0001819	synonymous_variant	80168			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.441G>T	11.37:g.75438650G>T			A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	CCDS8240.1																																																																																				0.532	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		T	75438650	G	T	75438650	2	4	549	1	0	0	0	0	0	0	0	1	9697	1219	43	4		4	MOGAT2	11	75438650	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	3425771	75438650	59567866	44	29561											
DPAGT1	1798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118968667	118968667	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr11:118968667C>T	ENST00000409993.2	-	8	2366	c.815G>A	c.(814-816)aGc>aAc	p.S272N	DPAGT1_ENST00000432443.2_Missense_Mutation_p.S165N|DPAGT1_ENST00000354202.4_Missense_Mutation_p.S272N|DPAGT1_ENST00000445653.1_5'Flank|H2AFX_ENST00000530167.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	272					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)	p.S272N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CATGGTCTTGCTGAAGTGTCC	0.547																																																1	Substitution - Missense(1)	kidney(1)											194	174	181					11																	118968667		2200	4295	6495	SO:0001583	missense	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.815G>A	11.37:g.118968667C>T	ENSP00000386597:p.Ser272Asn		O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304760	0.95601	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.92699	-3.09;-3.09;-2.96	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.97492	0.9179	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.969;0.992	D	0.98098	1.0413	10	0.87932	D	0	-24.7629	19.2671	0.93993	0.0:1.0:0.0:0.0	.	165;272	E7EW40;Q9H3H5	.;GPT_HUMAN	N	272;272;165	ENSP00000386597:S272N;ENSP00000346142:S272N;ENSP00000404036:S165N	ENSP00000346142:S272N	S	-	2	0	DPAGT1	118473877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	AGC		0.547	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		T	118968667	C	T	118968667	3	4	549	1	0	0	0	0	1	0	0	0	4712	797	28	2	427	2	DPAGT1	11	118968667	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	43530017	118968667	16037849	45	29562											
USP2	9099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119243611	119243611	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr11:119243611A>G	ENST00000260187.2	-	2	874	c.580T>C	c.(580-582)Tac>Cac	p.Y194H	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	194	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Y194H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCGACCAGGTATTCAGGGCAG	0.637																																																1	Substitution - Missense(1)	kidney(1)											66	69	68					11																	119243611		2199	4295	6494	SO:0001583	missense	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.580T>C	11.37:g.119243611A>G	ENSP00000260187:p.Tyr194His		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.080656	0.55753	.	.	ENSG00000036672	ENST00000260187;ENST00000530918	T	0.26067	1.76	5.37	5.37	0.77165	.	0.847047	0.10893	N	0.622512	T	0.35885	0.0947	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.01626	-1.1309	10	0.40728	T	0.16	-5.887	13.1125	0.59281	1.0:0.0:0.0:0.0	.	194	O75604	UBP2_HUMAN	H	194;164	ENSP00000260187:Y194H	ENSP00000260187:Y194H	Y	-	1	0	USP2	118748821	1.000000	0.71417	0.993000	0.49108	0.711000	0.40976	4.597000	0.61062	2.024000	0.59613	0.533000	0.62120	TAC		0.637	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		G	119243611	A	G	119243611	3	3	549	1	0	0	0	0	1	0	0	0	17056	449	16	3	1436	3	USP2	11	119243611	Missense_Mutation	SNP	A	TCGA-CJ-5683-01A-11D-1534-10	274944	119243611	15762905	46	29563											
KRT82	3888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52795073	52795075	+	Splice_Site	DEL	CTT	CTT	-			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr12:52795073_52795075delCTT	ENST00000257974.2	-	3	756_758	c.679_681delAAG	c.(679-681)aagdel	p.K227del	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	227	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TCCTCCTTACCTTCTTCAAGGCA	0.552																																																0																																										SO:0001630	splice_region_variant	3888			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.681+1AAG>-	12.37:g.52795076_52795078delCTT				Frame_Shift_Del	DEL	ENST00000257974.2	37	CCDS8826.1																																																																																				0.552	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033	In_Frame_Del	-	52795075	CTT	-	52795073	8	5	549	1	0	1	0	1	0	0	1	0	8498	695	24	0	888	0	KRT82	12	52795073	Splice_Site	DEL	CTT	TCGA-CJ-5683-01A-11D-1534-10		52795073	81056822	47	29564											
LRP1	4035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57548478	57548478	+	Silent	SNP	C	C	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr12:57548478C>T	ENST00000243077.3	+	8	1687	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	LRP1_ENST00000554174.1_Silent_p.G407G	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	407					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.G407G(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCATCCAGGGCATCCTGGTGA	0.577																																																1	Substitution - coding silent(1)	kidney(1)											32	29	30					12																	57548478		2192	4291	6483	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1221C>T	12.37:g.57548478C>T			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.577	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		T	57548478	C	T	57548478	2	4	549	1	0	0	0	0	0	0	0	1	8953	697	25	2		2	LRP1	12	57548478	Silent	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	4753405	57548478	76303417	48	29565											
EEA1	8411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	93171332	93171332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr12:93171332delT	ENST00000322349.8	-	27	4265	c.4001delA	c.(4000-4002)aacfs	p.N1334fs		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1334					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AAGTGATTGGTTTTCTCTGCC	0.358																																																0													146	133	137					12																	93171332		2203	4300	6503	SO:0001589	frameshift_variant	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.4001delA	12.37:g.93171332delT	ENSP00000317955:p.Asn1334fs		Q14221	Frame_Shift_Del	DEL	ENST00000322349.8	37	CCDS31874.1																																																																																				0.358	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		-	93171332	T	-	93171332	7	5	549	1	0	1	0	1	0	0	0	0	4923	1725	60	0	246	0	EEA1	12	93171332	Frame_Shift_Del	DEL	T	TCGA-CJ-5683-01A-11D-1534-10	35622854	93171332	40680563	49	29566											
TMEM132B	114795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	125834194	125834194	+	Silent	SNP	T	T	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr12:125834194T>C	ENST00000299308.3	+	2	257	c.249T>C	c.(247-249)atT>atC	p.I83I	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	83						integral component of membrane (GO:0016021)		p.I83I(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CACCCCCTATTATCAATGCCA	0.498																																																1	Substitution - coding silent(1)	kidney(1)											106	105	105					12																	125834194		1868	4104	5972	SO:0001819	synonymous_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.249T>C	12.37:g.125834194T>C			A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																				0.498	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		C	125834194	T	C	125834194	2	2	549	1	0	0	0	0	0	0	0	1	16051	1742	61	3		3	TMEM132B	12	125834194	Silent	SNP	T	TCGA-CJ-5683-01A-11D-1534-10	32662862	125834194	8017701	50	29567											
NAA16	79612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41932483	41932483	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr13:41932483G>C	ENST00000379406.3	+	11	1455	c.1131G>C	c.(1129-1131)caG>caC	p.Q377H	NAA16_ENST00000403412.3_Missense_Mutation_p.Q377H|NAA16_ENST00000379367.3_Missense_Mutation_p.Q377H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	377					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.Q377H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TCTGGGTTCAGTATTTCCTGG	0.348																																																1	Substitution - Missense(1)	kidney(1)											92	91	92					13																	41932483		2203	4300	6503	SO:0001583	missense	79612			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1131G>C	13.37:g.41932483G>C	ENSP00000368716:p.Gln377His		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	2.086	-0.409573	0.04799	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.53857	0.6;0.6;0.97	5.02	-0.738	0.11125	Tetratricopeptide repeat-containing (1);	0.196932	0.33875	N	0.004463	T	0.48169	0.1485	L	0.33485	1.01	0.30860	N	0.733571	B;P	0.40032	0.162;0.699	B;P	0.55455	0.315;0.776	T	0.50882	-0.8775	10	0.17369	T	0.5	-0.1734	6.9989	0.24799	0.2481:0.3293:0.4226:0.0	.	377;377	Q6N069;Q6N069-4	NAA16_HUMAN;.	H	377	ENSP00000368674:Q377H;ENSP00000368716:Q377H;ENSP00000386103:Q377H	ENSP00000368674:Q377H	Q	+	3	2	NAA16	40830483	0.988000	0.35896	0.996000	0.52242	0.036000	0.12997	0.173000	0.16724	-0.098000	0.12285	0.484000	0.47621	CAG		0.348	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		C	41932483	G	C	41932483	3	2	549	1	0	0	0	0	1	0	0	0	10121	1020	36	4	1173	4	NAA16	13	41932483	Missense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10		41932483	73237395	51	29568											
RASA3	22821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	114782719	114782719	+	Silent	SNP	G	G	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr13:114782719G>T	ENST00000334062.7	-	12	1321	c.1200C>A	c.(1198-1200)atC>atA	p.I400I	RASA3_ENST00000389544.4_Silent_p.I368I	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	400	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.I400I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCACCTCCTCGATGGCGGGCT	0.617											OREG0022538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											139	111	121					13																	114782719		2203	4300	6503	SO:0001819	synonymous_variant	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1200C>A	13.37:g.114782719G>T		1460	A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	CCDS32016.1																																																																																				0.617	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		T	114782719	G	T	114782719	2	4	549	1	0	0	0	0	0	0	0	1	13068	1048	37	4		4	RASA3	13	114782719	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	72850236	114782719	387159	52	29569											
METT11D1	64745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21461323	21461323	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr14:21461323T>G	ENST00000339374.6	+	6	808	c.575T>G	c.(574-576)tTt>tGt	p.F192C	METTL17_ENST00000556670.2_Missense_Mutation_p.F192C|METTL17_ENST00000382985.4_Missense_Mutation_p.F192C|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	192					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)	p.F192C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TTGATGGACTTTGGCTCAGGT	0.418																																																1	Substitution - Missense(1)	kidney(1)											205	184	191					14																	21461323		2203	4300	6503	SO:0001583	missense	0			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.575T>G	14.37:g.21461323T>G	ENSP00000343041:p.Phe192Cys		Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000419	0.74818	.	.	ENSG00000165792	ENST00000339374;ENST00000382985;ENST00000553564;ENST00000555670	T;T;T;T	0.42900	0.96;0.96;1.97;0.96	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	M	0.87038	2.855	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.73600	-0.3931	10	0.59425	D	0.04	.	13.1812	0.59655	0.0:0.0:0.0:1.0	.	192;192;192	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	C	192;192;110;110	ENSP00000343041:F192C;ENSP00000372445:F192C;ENSP00000451478:F110C;ENSP00000451049:F110C	ENSP00000343041:F192C	F	+	2	0	METTL17	20531163	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.897000	0.63231	1.999000	0.58509	0.482000	0.46254	TTT		0.418	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		G	21461323	T	G	21461323	3	3	549	1	0	0	0	0	1	0	0	0	9493	1841	64	5	597	5	METT11D1	14	21461323	Missense_Mutation	SNP	T	TCGA-CJ-5683-01A-11D-1534-10		21461323	85888217	53	29570											
MAX	4149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	65569042	65569042	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr14:65569042C>A	ENST00000358664.4	-	1	146	c.16G>T	c.(16-18)Gac>Tac	p.D6Y	MAX_ENST00000557746.1_Missense_Mutation_p.D6Y|MAX_ENST00000246163.2_Missense_Mutation_p.D6Y|MAX_ENST00000555419.1_Missense_Mutation_p.D6Y|MAX_ENST00000555932.1_Missense_Mutation_p.D6Y|MAX_ENST00000284165.6_Missense_Mutation_p.D6Y|MAX_ENST00000556979.1_Missense_Mutation_p.D6Y|MAX_ENST00000555667.1_Missense_Mutation_p.D6Y|MAX_ENST00000556443.1_Missense_Mutation_p.D6Y|MAX_ENST00000557277.1_Intron|MAX_ENST00000358402.4_Missense_Mutation_p.D6Y|MAX_ENST00000341653.2_Missense_Mutation_p.D6Y	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	6					cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.D6Y(3)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		ACCTCGATGTCATCGTTATCG	0.672																																																3	Substitution - Missense(3)	kidney(3)											74	63	66					14																	65569042		2203	4300	6503	SO:0001583	missense	4149				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.16G>T	14.37:g.65569042C>A	ENSP00000351490:p.Asp6Tyr		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076344	0.76415	.	.	ENSG00000125952	ENST00000341653;ENST00000358402;ENST00000555932;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443;ENST00000246163	D;D;D;D;D;D;D;D;D;D	0.99745	-4.35;-4.5;-4.86;-5.1;-3.95;-6.61;-4.29;-4.4;-4.38;-4.22	4.91	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.99591	0.9852	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;0.996;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.919;0.987;0.976;0.963;0.968;0.928;0.982;0.998	D	0.98346	1.0541	10	0.87932	D	0	-5.0444	10.8962	0.47023	0.0:0.909:0.0:0.091	.	6;6;6;6;6;6;6;6	G3V2N4;Q96CY8;Q14803;Q6V3B1;P61244-2;P61244;P61244-3;A6NH73	.;.;.;.;.;MAX_HUMAN;.;.	Y	6	ENSP00000342482:D6Y;ENSP00000351175:D6Y;ENSP00000284165:D6Y;ENSP00000351490:D6Y;ENSP00000452405:D6Y;ENSP00000452378:D6Y;ENSP00000452286:D6Y;ENSP00000452197:D6Y;ENSP00000450818:D6Y;ENSP00000246163:D6Y	ENSP00000246163:D6Y	D	-	1	0	MAX	64638795	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.538000	0.67193	1.186000	0.42985	0.585000	0.79938	GAC		0.672	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		A	65569042	C	A	65569042	3	1	549	1	0	0	0	0	1	0	0	0	9341	826	29	4	826	4	MAX	14	65569042	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	44107719	65569042	41780498	54	29571											
TDP1	55775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	90437547	90437547	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr14:90437547G>A	ENST00000335725.4	+	6	938	c.688G>A	c.(688-690)Gat>Aat	p.D230N	TDP1_ENST00000393454.2_Missense_Mutation_p.D230N|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.D230N|TDP1_ENST00000555880.1_Missense_Mutation_p.D230N|TDP1_ENST00000357382.3_Silent_p.V2V	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	230					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.D230N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGTGCATGGTGATAAGCGAGA	0.507								Repair of DNA-protein crosslinks																																								1	Substitution - Missense(1)	kidney(1)											109	86	94					14																	90437547		2203	4300	6503	SO:0001583	missense	55775			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.688G>A	14.37:g.90437547G>A	ENSP00000337353:p.Asp230Asn		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987871	0.74589	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000555880	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.7	5.7	0.88788	.	0.094598	0.64402	D	0.000001	T	0.39545	0.1082	L	0.54323	1.7	0.80722	D	1	B;B;P	0.45126	0.344;0.396;0.851	B;B;P	0.47251	0.152;0.236;0.542	T	0.03364	-1.1044	10	0.19590	T	0.45	-8.4541	19.8344	0.96650	0.0:0.0:1.0:0.0	.	230;230;230	G3V2F4;E7EPD8;Q9NUW8	.;.;TYDP1_HUMAN	N	230;230;230;131;230;230	ENSP00000377098:D230N;ENSP00000450872:D230N;ENSP00000377099:D230N;ENSP00000450708:D131N;ENSP00000337353:D230N;ENSP00000450628:D230N	ENSP00000337353:D230N	D	+	1	0	TDP1	89507300	1.000000	0.71417	0.611000	0.29010	0.925000	0.55904	8.937000	0.92936	2.696000	0.92011	0.561000	0.74099	GAT		0.507	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		A	90437547	G	A	90437547	3	1	549	1	0	0	0	0	1	0	0	0	15733	1290	45	2	702	2	TDP1	14	90437547	Missense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	24868505	90437547	16911993	55	29572											
RYR3	6263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	33842489	33842489	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr15:33842489C>G	ENST00000389232.4	+	10	1014	c.944C>G	c.(943-945)tCc>tGc	p.S315C	RYR3_ENST00000415757.3_Missense_Mutation_p.S315C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	315	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)	p.S315C(1)		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)		GACACCAAGTCCACAGCTTTC	0.498																																																1	Substitution - Missense(1)	kidney(1)											41	43	42					15																	33842489		2133	4258	6391	SO:0001583	missense	6263				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.944C>G	15.37:g.33842489C>G	ENSP00000373884:p.Ser315Cys		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966131	0.74131	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.86956	-2.19;-2.19	5.29	4.36	0.52297	MIR motif (2);MIR (2);	0.141336	0.48286	D	0.000185	D	0.88983	0.6586	L	0.42245	1.32	0.41158	D	0.986077	D;P	0.53151	0.958;0.927	P;P	0.56474	0.799;0.69	D	0.90299	0.4328	10	0.66056	D	0.02	.	15.7724	0.78180	0.0:0.8632:0.1368:0.0	.	315;315	Q15413-2;Q15413	.;RYR3_HUMAN	C	315	ENSP00000373884:S315C;ENSP00000399610:S315C	ENSP00000354735:S315C	S	+	2	0	RYR3	31629781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.234000	0.78134	1.451000	0.47736	0.591000	0.81541	TCC		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			G	33842489	C	G	33842489	3	3	549	1	0	0	0	0	1	0	0	0	13776	855	30	4	982	4	RYR3	15	33842489	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10		33842489	68688903	56	29573											
MYO5A	4644	broad.mit.edu;ucsc.edu	37	15	52720650	52720650	+	Silent	SNP	C	C	G			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr15:52720650C>G	ENST00000399231.3	-	3	498	c.255G>C	c.(253-255)gtG>gtC	p.V85V	MYO5A_ENST00000553916.1_Silent_p.V85V|MYO5A_ENST00000358212.6_Silent_p.V85V|MYO5A_ENST00000399233.2_Silent_p.V85V|MYO5A_ENST00000356338.6_Silent_p.V85V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	85	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.V85V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GATTATGGAGCACAGCAGGCT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											159	147	151					15																	52720650		1952	4163	6115	SO:0001819	synonymous_variant	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.255G>C	15.37:g.52720650C>G			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	CCDS42037.1																																																																																				0.428	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		G	52720650	C	G	52720650	2	3	549	1	0	0	0	0	0	0	0	1	10080	697	25	4		4	MYO5A	15	52720650	Silent	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	18878161	52720650	49810742	57	29574											
PIGQ	9091	hgsc.bcm.edu	37	16	632283	632283	+	Intron	SNP	G	G	A	rs7187227	byFrequency	TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr16:632283G>A	ENST00000026218.5	+	10	1619				PIGQ_ENST00000321878.5_Missense_Mutation_p.G523S|PIGQ_ENST00000409527.2_Missense_Mutation_p.G523S	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q						C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCACGAGGCCGGCAGGCCCCT	0.692													G|||	696	0.138978	0.1377	0.0793	5008	,	,		17264	0.0248		0.1799	False		,,,				2504	0.2587															0								G	SER/GLY,	675,3717		50,575,1571	25	26	26		1567,	5.1	1	16	dbSNP_116	26	1560,7032		144,1272,2880	yes	missense,intron	PIGQ	NM_004204.3,NM_148920.1	56,	194,1847,4451	AA,AG,GG		18.1564,15.3689,17.2135	,	523/582,	632283	2235,10749	2196	4296	6492	SO:0001627	intron_variant	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1532-600G>A	16.37:g.632283G>A			A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	CCDS10411.1	268	0.1227106227106227	73	0.1483739837398374	32	0.08839779005524862	18	0.03146853146853147	145	0.19129287598944592	G	22.4	4.284826	0.80803	0.153689	0.181564	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000540241	T;T	0.44482	0.92;0.92	5.08	5.08	0.68730	.	.	.	.	.	T	0.00178	0.0005	M	0.73598	2.24	0.09310	P	1.0	D	0.89917	1.0	D	0.76575	0.988	T	0.08743	-1.0707	8	0.10636	T	0.68	.	17.4349	0.87548	0.0:0.0:1.0:0.0	rs7187227	523	Q9BRB3-2	.	S	523;523;81	ENSP00000386760:G523S;ENSP00000326674:G523S	ENSP00000326674:G523S	G	+	1	0	PIGQ	572284	1.000000	0.71417	0.995000	0.50966	0.430000	0.31655	5.884000	0.69729	2.361000	0.80049	0.561000	0.74099	GGC		0.692	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		A	632283	G	A	632283	1	1	549	0	1	0	0	0	0	0	0	0	11898	1116	39	1		1	PIGQ	16	632283	Intron	SNP	G	TCGA-CJ-5683-01A-11D-1534-10		632283	89722470	58	29575											
ABAT	18	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	8844355	8844355	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr16:8844355G>A	ENST00000396600.2	+	5	1213	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	ABAT_ENST00000569156.1_Missense_Mutation_p.R92Q|ABAT_ENST00000567812.1_Missense_Mutation_p.R107Q|ABAT_ENST00000425191.2_Missense_Mutation_p.R92Q|ABAT_ENST00000268251.8_Missense_Mutation_p.R92Q	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	92					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.R92Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GACGGCAACCGAATGCTGGAT	0.463																																																1	Substitution - Missense(1)	kidney(1)											199	179	186					16																	8844355		2197	4300	6497	SO:0001583	missense	18			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.275G>A	16.37:g.8844355G>A	ENSP00000379845:p.Arg92Gln		A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748304	0.89663	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.86865	-2.18;-2.18;-2.18	5.93	5.93	0.95920	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.88276	0.2933	10	0.13108	T	0.6	-11.1913	18.8949	0.92419	0.0:0.0:1.0:0.0	.	92	P80404	GABT_HUMAN	Q	92	ENSP00000268251:R92Q;ENSP00000379845:R92Q;ENSP00000411916:R92Q	ENSP00000268251:R92Q	R	+	2	0	ABAT	8751856	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.388000	0.97237	2.803000	0.96430	0.650000	0.86243	CGA		0.463	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		A	8844355	G	A	8844355	3	1	549	1	0	0	0	0	1	0	0	0	27	1058	37	1	289	1	ABAT	16	8844355	Missense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	8212072	8844355	81510398	59	29576											
ACSM2B	348158	broad.mit.edu;hgsc.bcm.edu	37	16	20548590	20548590	+	Missense_Mutation	SNP	C	C	T	rs371889197		TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr16:20548590C>T	ENST00000329697.6	-	14	1892	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	ACSM2B_ENST00000565322.1_Missense_Mutation_p.R496H|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R575H|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R575H	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	575					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R575H(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCACTGCGCACGGGCTTTTCC	0.468													c|||	1	0.000199681	0.0	0.0	5008	,	,		18720	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG,HIS/ARG	0,4404		0,0,2202	249	228	235		1724,1724	-3.1	0	16		235	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACSM2B	NM_001105069.1,NM_182617.3	29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	575/578,575/578	20548590	1,13003	2202	4300	6502	SO:0001583	missense	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1724G>A	16.37:g.20548590C>T	ENSP00000327453:p.Arg575His		Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	8.074	0.770993	0.15983	0.0	1.16E-4	ENSG00000066813	ENST00000329697	T	0.47869	0.83	2.53	-3.09	0.05331	.	.	.	.	.	T	0.24967	0.0606	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.17107	-1.0380	9	0.59425	D	0.04	-0.2477	9.4274	0.38588	0.0:0.233:0.0:0.767	.	575	Q68CK6	ACS2B_HUMAN	H	575	ENSP00000327453:R575H	ENSP00000327453:R575H	R	-	2	0	ACSM2B	20456091	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.847000	0.01675	-0.819000	0.04323	-0.192000	0.12808	CGT		0.468	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		T	20548590	C	T	20548590	3	4	549	1	0	0	0	0	1	0	0	0	184	536	19	1	13	1	ACSM2B	16	20548590	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	11704235	20548590	69806163	60	29577											
SNX20	124460	broad.mit.edu	37	16	50709790	50709790	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr16:50709790C>T	ENST00000330943.4	-	3	344	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	SNX20_ENST00000423026.2_Missense_Mutation_p.R58Q|SNX20_ENST00000300590.3_Missense_Mutation_p.R58Q	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	58					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)	p.R58Q(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTGAAGCTCCCGCGTGGTCAT	0.552																																																2	Substitution - Missense(2)	kidney(2)											107	96	99					16																	50709790		2198	4300	6498	SO:0001583	missense	124460			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.173G>A	16.37:g.50709790C>T	ENSP00000332062:p.Arg58Gln		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797044	0.70567	.	.	ENSG00000167208	ENST00000300590;ENST00000423026;ENST00000330943;ENST00000413750	T;T;T	0.52295	0.67;0.72;1.17	5.66	3.52	0.40303	Phox homologous domain (1);	0.276731	0.33875	N	0.004467	T	0.43809	0.1264	N	0.24115	0.695	0.24938	N	0.991874	D;P;D	0.76494	0.999;0.913;0.993	P;B;P	0.60345	0.873;0.161;0.724	T	0.22138	-1.0225	10	0.62326	D	0.03	-26.6863	4.1732	0.10339	0.0:0.6117:0.0:0.3883	.	58;58;58	Q7Z614-3;Q7Z614;Q7Z614-4	.;SNX20_HUMAN;.	Q	58	ENSP00000300590:R58Q;ENSP00000388875:R58Q;ENSP00000332062:R58Q	ENSP00000300590:R58Q	R	-	2	0	SNX20	49267291	0.996000	0.38824	0.795000	0.32087	0.502000	0.33828	1.772000	0.38552	1.389000	0.46526	0.462000	0.41574	CGG		0.552	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		T	50709790	C	T	50709790	3	4	549	1	0	0	0	0	1	0	0	0	14898	652	23	1	928	1	SNX20	16	50709790	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10	30161200	50709790	39644963	61	29578											
HYDIN	54768	broad.mit.edu	37	16	70889122	70889122	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr16:70889122A>T	ENST00000393567.2	-	73	12502	c.12352T>A	c.(12352-12354)Ttt>Att	p.F4118I	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4118					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.F4069I(1)|p.F4117I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGAAGGAAAAATCGAACCCC	0.537																																																2	Substitution - Missense(2)	kidney(2)											46	70	63					16																	70889122		1699	4092	5791	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12352T>A	16.37:g.70889122A>T	ENSP00000377197:p.Phe4118Ile		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518677	0.85495	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.03358	3.96	5.57	5.57	0.84162	.	0.000000	0.34110	U	0.004257	T	0.20820	0.0501	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00409	-1.1757	10	0.87932	D	0	.	15.6754	0.77316	1.0:0.0:0.0:0.0	.	4117	F8WD23	.	I	4118;4117	ENSP00000377197:F4118I	ENSP00000313052:F4117I	F	-	1	0	HYDIN	69446623	1.000000	0.71417	0.917000	0.36280	0.582000	0.36321	6.807000	0.75201	2.244000	0.73946	0.418000	0.28097	TTT		0.537	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			T	70889122	A	T	70889122	3	4	549	1	0	0	0	0	1	0	0	0	7469	14	1	5	3069	5	HYDIN	16	70889122	Missense_Mutation	SNP	A	TCGA-CJ-5683-01A-11D-1534-10	20179332	70889122	19465631	62	29579											
SLC47A2	146802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	19610039	19610039	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr17:19610039A>G	ENST00000325411.5	-	9	921	c.871T>C	c.(871-873)Ttc>Ctc	p.F291L	SLC47A2_ENST00000350657.5_Missense_Mutation_p.F255L|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	291					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)	p.F291L(1)|p.F255L(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	AGGGAGAAGAAGGGGCCCCAG	0.617																																																2	Substitution - Missense(2)	kidney(2)											85	79	81					17																	19610039		2203	4300	6503	SO:0001583	missense	146802			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.871T>C	17.37:g.19610039A>G	ENSP00000326671:p.Phe291Leu		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710541	0.89112	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.40756	1.48;1.54;1.02	5.36	5.36	0.76844	.	0.052658	0.85682	D	0.000000	T	0.48114	0.1482	N	0.16656	0.425	0.46241	D	0.99894	D;D;P	0.76494	0.999;0.999;0.866	D;D;P	0.76071	0.987;0.987;0.688	T	0.54262	-0.8320	10	0.72032	D	0.01	-26.4937	13.5869	0.61937	1.0:0.0:0.0:0.0	.	255;255;291	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	L	255;291;206;255	ENSP00000338084:F255L;ENSP00000326671:F291L;ENSP00000391848:F255L	ENSP00000326671:F291L	F	-	1	0	SLC47A2	19550631	1.000000	0.71417	0.693000	0.30195	0.669000	0.39330	8.302000	0.89953	2.165000	0.68154	0.379000	0.24179	TTC		0.617	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		G	19610039	A	G	19610039	3	3	549	1	0	0	0	0	1	0	0	0	14654	72	3	3	973	3	SLC47A2	17	19610039	Missense_Mutation	SNP	A	TCGA-CJ-5683-01A-11D-1534-10		19610039	61585171	63	29580											
KRT13	3860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39659227	39659227	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr17:39659227T>C	ENST00000246635.3	-	4	905	c.859A>G	c.(859-861)Agg>Ggg	p.R287G	KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Missense_Mutation_p.R287G|KRT13_ENST00000587544.1_Missense_Mutation_p.R287G	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	287	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R287G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CGGCGGTTCCTCTCTGCCATG	0.647																																																1	Substitution - Missense(1)	kidney(1)											174	163	167					17																	39659227		2203	4300	6503	SO:0001583	missense	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.859A>G	17.37:g.39659227T>C	ENSP00000246635:p.Arg287Gly		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.950032	0.34377	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.78816	-1.21;-1.21	4.32	3.23	0.37069	Filament (1);	0.135136	0.32918	N	0.005494	T	0.79499	0.4456	M	0.83852	2.665	0.24730	N	0.993092	B;B;B;B	0.28378	0.209;0.126;0.104;0.126	B;B;B;B	0.37346	0.236;0.247;0.159;0.247	T	0.73824	-0.3861	10	0.72032	D	0.01	.	7.3808	0.26854	0.0:0.0806:0.2099:0.7096	.	275;287;287;287	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	G	287;287;275	ENSP00000246635:R287G;ENSP00000336604:R287G	ENSP00000157775:R275G	R	-	1	2	KRT13	36912753	1.000000	0.71417	0.998000	0.56505	0.330000	0.28571	2.744000	0.47450	0.801000	0.34066	0.459000	0.35465	AGG		0.647	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		C	39659227	T	C	39659227	3	2	549	1	0	0	0	0	1	0	0	0	8452	1550	54	3	537	3	KRT13	17	39659227	Missense_Mutation	SNP	T	TCGA-CJ-5683-01A-11D-1534-10	20049188	39659227	41535983	64	29581											
PDK2	5164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48183306	48183306	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr17:48183306G>T	ENST00000503176.1	+	4	551	c.390G>T	c.(388-390)atG>atT	p.M130I	PDK2_ENST00000007708.3_Missense_Mutation_p.M66I	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	130					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.M130I(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						TGCCCACCATGGCACAAGGCG	0.602									Autosomal Dominant Polycystic Kidney Disease																																							1	Substitution - Missense(1)	kidney(1)											122	73	90					17																	48183306		2203	4300	6503	SO:0001583	missense	5164	Familial Cancer Database	ADPKD	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"pyruvate dehydrogenase kinase, isoenzyme 2"			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.390G>T	17.37:g.48183306G>T	ENSP00000420927:p.Met130Ile		A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002121	0.74932	.	.	ENSG00000005882	ENST00000007708;ENST00000508030;ENST00000503176;ENST00000503614;ENST00000505440;ENST00000512238;ENST00000510219	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.53;1.52;1.52;1.53;1.53	4.26	4.26	0.50523	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.101514	0.64402	D	0.000004	T	0.52885	0.1762	M	0.76328	2.33	0.80722	D	1	B	0.30068	0.267	P	0.50109	0.631	T	0.59590	-0.7426	10	0.66056	D	0.02	-19.3221	15.4621	0.75366	0.0:0.0:1.0:0.0	.	130	Q15119	PDK2_HUMAN	I	66;66;130;66;66;66;35	ENSP00000007708:M66I;ENSP00000427682:M66I;ENSP00000420927:M130I;ENSP00000425265:M66I;ENSP00000425615:M66I;ENSP00000421178:M66I;ENSP00000423310:M35I	ENSP00000007708:M66I	M	+	3	0	PDK2	45538305	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.792000	0.85828	1.926000	0.55796	0.393000	0.25936	ATG		0.602	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		T	48183306	G	T	48183306	3	4	549	1	0	0	0	0	1	0	0	0	11678	1348	47	4	404	4	PDK2	17	48183306	Missense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	8524079	48183306	33011904	65	29582											
SPAG9	9043	broad.mit.edu	37	17	49197990	49197990	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr17:49197990G>C	ENST00000262013.7	-	1	236	c.28C>G	c.(28-30)Cag>Gag	p.Q10E	SPAG9_ENST00000505279.1_Missense_Mutation_p.Q10E|SPAG9_ENST00000357122.4_Missense_Mutation_p.Q10E	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	10					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.Q10E(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GGCTCCTCCTGATACACCACA	0.736																																																1	Substitution - Missense(1)	kidney(1)											15	17	16					17																	49197990		2196	4295	6491	SO:0001583	missense	9043			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.28C>G	17.37:g.49197990G>C	ENSP00000262013:p.Gln10Glu		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264166	0.59431	.	.	ENSG00000008294	ENST00000262013;ENST00000505279;ENST00000357122;ENST00000546269	T;T;T	0.23552	1.9;1.91;1.91	3.69	3.69	0.42338	.	0.222821	0.28766	U	0.014216	T	0.29355	0.0731	L	0.60455	1.87	0.28486	N	0.914723	B;B;P	0.41131	0.195;0.243;0.739	B;B;B	0.40782	0.122;0.057;0.34	T	0.20472	-1.0274	10	0.45353	T	0.12	-5.6136	15.4447	0.75220	0.0:0.0:1.0:0.0	.	10;10;10	O60271-2;O60271;O60271-4	.;JIP4_HUMAN;.	E	10	ENSP00000262013:Q10E;ENSP00000426900:Q10E;ENSP00000349636:Q10E	ENSP00000262013:Q10E	Q	-	1	0	SPAG9	46552989	1.000000	0.71417	0.997000	0.53966	0.838000	0.47535	6.357000	0.73051	1.770000	0.52166	0.186000	0.17326	CAG		0.736	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		C	49197990	G	C	49197990	3	2	549	1	0	0	0	0	1	0	0	0	14991	1299	45	4	4057	4	SPAG9	17	49197990	Missense_Mutation	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	1014684	49197990	31997220	66	29583											
CDK3	1018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73999331	73999332	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr17:73999331_73999332TC>AG	ENST00000425876.2	+	6	732_733	c.644_645TC>AG	c.(643-645)aTC>aAG	p.I215K	CDK3_ENST00000448471.1_Missense_Mutation_p.I215K|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.I215M(1)|p.I215N(1)		central_nervous_system(1)	1						CTCTTTCGTATCTTTCGTATGC	0.55																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	1018			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"Cyclin-dependent kinases"	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	Exception_encountered	17.37:g.73999331_73999332delinsAG	ENSP00000410561:p.Ile215Lys			Missense_Mutation	SNP	ENST00000425876.2	37	CCDS11736.1																																																																																				0.55	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258		AG	73999332	TC	AG	73999331	3	1	549	1	0	0	0	0	1	0	0	0	3142	1435	50	5	666	5	CDK3	17	73999331	Missense_Mutation	DNP	TC	TCGA-CJ-5683-01A-11D-1534-10	24801341	73999331	7195879	67	29584											
BAHCC1	57597	broad.mit.edu;hgsc.bcm.edu	37	17	79426336	79426336	+	Silent	SNP	G	G	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr17:79426336G>A	ENST00000307745.7	+	26	5778	c.5778G>A	c.(5776-5778)gaG>gaA	p.E1926E	RP11-1055B8.8_ENST00000572590.1_RNA														p.E1926E(1)									ACTCACTGGAGCAGCTGCTGC	0.677																																																1	Substitution - coding silent(1)	kidney(1)											28	35	33					17																	79426336		2020	4165	6185	SO:0001819	synonymous_variant	57597																														ENST00000307745.7:c.5778G>A	17.37:g.79426336G>A				Silent	SNP	ENST00000307745.7	37																																																																																					0.677	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				A	79426336	G	A	79426336	2	1	549	1	0	0	0	0	0	0	0	1	1296	962	34	2		2	BAHCC1	17	79426336	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	5427005	79426336	1768874	68	29585											
DCC	1630	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	50683750	50683750	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr18:50683750C>A	ENST00000442544.2	+	8	1902	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.P84H|DCC_ENST00000412726.1_Missense_Mutation_p.P277H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	429					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P429H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTGTCCTCCCTTCGGCTCCC	0.542																																																1	Substitution - Missense(1)	kidney(1)											191	178	183					18																	50683750		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1286C>A	18.37:g.50683750C>A	ENSP00000389140:p.Pro429His			Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857617	0.51376	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.67523	-0.22;-0.27	5.34	5.34	0.76211	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.89347	0.6689	H	0.98507	4.25	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93441	0.6794	10	0.87932	D	0	.	17.8248	0.88661	0.0:1.0:0.0:0.0	.	277;277;429	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	H	429;362;277	ENSP00000389140:P429H;ENSP00000397322:P277H	ENSP00000304146:P362H	P	+	2	0	DCC	48937748	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.027000	0.76463	2.510000	0.84645	0.561000	0.74099	CCT		0.542	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		A	50683750	C	A	50683750	3	1	549	1	0	0	0	0	1	0	0	0	4284	681	24	4	1316	4	DCC	18	50683750	Missense_Mutation	SNP	C	TCGA-CJ-5683-01A-11D-1534-10		50683750	27393498	69	29586											
ADAMTSL5	339366	broad.mit.edu	37	19	1508023	1508023	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr19:1508023delA	ENST00000413997.2	-	7	604	c.605delT	c.(604-606)ttcfs	p.F202fs	CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000330475.4_Frame_Shift_Del_p.F192fs			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	202						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCTGCACGAAAAGGCACGA	0.652																																																0													26	22	23					19																	1508023		2192	4292	6484	SO:0001589	frameshift_variant	339366			BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"thrombospondin, type I, domain containing 6"	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.605delT	19.37:g.1508023delA	ENSP00000399364:p.Phe202fs		B4DXK7|Q8IW95	Frame_Shift_Del	DEL	ENST00000413997.2	37																																																																																					0.652	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		-	1508023	A	-	1508023	7	5	549	1	0	1	0	1	0	0	0	0	278	246	9	0	864	0	ADAMTSL5	19	1508023	Frame_Shift_Del	DEL	A	TCGA-CJ-5683-01A-11D-1534-10		1508023	57620960	70	29587											
FBN3	84467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8162185	8162185	+	Silent	SNP	G	G	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr19:8162185G>A	ENST00000600128.1	-	42	5689	c.5275C>T	c.(5275-5277)Ctg>Ttg	p.L1759L	FBN3_ENST00000270509.2_Silent_p.L1759L|FBN3_ENST00000601739.1_Silent_p.L1759L			Q75N90	FBN3_HUMAN	fibrillin 3	1759	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L1759L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCACAAGCCAGCAGGATGCTG	0.587																																																1	Substitution - coding silent(1)	kidney(1)											41	38	39					19																	8162185		2203	4299	6502	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5275C>T	19.37:g.8162185G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8162185	G	A	8162185	2	1	549	1	0	0	0	0	0	0	0	1	5706	962	34	2		2	FBN3	19	8162185	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	6654162	8162185	50966798	71	29588											
CACNA1A	773	hgsc.bcm.edu;ucsc.edu	37	19	13366037	13366038	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr19:13366037_13366038delGC	ENST00000360228.5	-	29	4625_4626	c.4626_4627delGC	c.(4624-4629)ccgctgfs	p.L1543fs	CACNA1A_ENST00000574822.1_5'Flank|CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.L1544fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1544					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTCGGGTCAGCGGCTTGGCGC	0.614																																																0																																										SO:0001589	frameshift_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4626_4627delGC	19.37:g.13366037_13366038delGC	ENSP00000353362:p.Leu1543fs		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Del	DEL	ENST00000360228.5	37	CCDS45998.1																																																																																				0.614	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		-	13366038	GC	-	13366037	7	5	549	1	0	1	0	1	0	0	0	0	2540	962	34	0	3071	0	CACNA1A	19	13366037	Frame_Shift_Del	DEL	GC	TCGA-CJ-5683-01A-11D-1534-10	5203852	13366037	45762946	72	29589											
C19orf12	83636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	30193856	30193856	+	Silent	SNP	G	G	T			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr19:30193856G>T	ENST00000392278.2	-	3	348	c.222C>A	c.(220-222)gcC>gcA	p.A74A	C19orf12_ENST00000592153.1_Silent_p.A63A|C19orf12_ENST00000392276.1_De_novo_Start_OutOfFrame|C19orf12_ENST00000323670.9_Silent_p.A63A|C19orf12_ENST00000392275.1_5'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	74					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A74A(1)				Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TTGTCATCCAGGCACCTAACA	0.522																																																1	Substitution - coding silent(1)	kidney(1)											80	84	83					19																	30193856		2203	4300	6503	SO:0001819	synonymous_variant	83636			AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 4"	614297	"spastic paraplegia 43 (autosomal recessive)"	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.222C>A	19.37:g.30193856G>T			B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Silent	SNP	ENST00000392278.2	37	CCDS42542.1																																																																																				0.522	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		T	30193856	G	T	30193856	2	4	549	1	0	0	0	0	0	0	0	1	1911	987	35	4		4	C19orf12	19	30193856	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10	16827819	30193856	28935127	73	29590											
SLC23A2	9962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	4839999	4839999	+	Silent	SNP	G	G	A	rs368342772		TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr20:4839999G>A	ENST00000379333.1	-	16	2048	c.1656C>T	c.(1654-1656)gtC>gtT	p.V552V	SLC23A2_ENST00000424750.2_Silent_p.V438V|SLC23A2_ENST00000338244.1_Silent_p.V552V	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	552					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.V552V(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGTGAGAAGGACGTTCAACA	0.453																																																1	Substitution - coding silent(1)	kidney(1)						G	,	0,4406		0,0,2203	173	152	159		1656,1656	1.9	1	20		159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC23A2	NM_005116.5,NM_203327.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	552/651,552/651	4839999	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1656C>T	20.37:g.4839999G>A			B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	CCDS13085.1																																																																																				0.453	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			A	4839999	G	A	4839999	2	1	549	1	0	0	0	0	0	0	0	1	14469	1161	41	2		2	SLC23A2	20	4839999	Silent	SNP	G	TCGA-CJ-5683-01A-11D-1534-10		4839999	58185521	74	29591											
NEFH	4744	hgsc.bcm.edu	37	22	29885572	29885573	+	In_Frame_Ins	INS	-	-	CCCTGAGAAGGCCAAGTC			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chr22:29885572_29885573insCCCTGAGAAGGCCAAGTC	ENST00000310624.6	+	4	1976_1977	c.1943_1944insCCCTGAGAAGGCCAAGTC	c.(1942-1947)tcccct>tcCCCTGAGAAGGCCAAGTCccct	p.648_649SP>SPEKAKSP		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	654	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGCAAAGTCCCCTGAGAAGG	0.569																																																0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1944_1961dupCCCTGAGAAGGCCAAGTC	22.37:g.29885572_29885573insCCCTGAGAAGGCCAAGTC	ENSP00000311997:p.Pro643_Ser648dup		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		CCCTGAGAAGGCCAAGTC	29885573	-	CCCTGAGAAGGCCAAGTC	29885572	7	5	549	1	0	1	1	0	0	0	0	0	10316	855	30	0	1957	0	NEFH	22	29885572	In_Frame_Ins	INS	-	TCGA-CJ-5683-01A-11D-1534-10		29885572	21418994	75	29592											
ATP7A	538	hgsc.bcm.edu	37	X	77284798	77284799	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-5683-01A-11D-1534-10	TCGA-CJ-5683-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b85e29c5-0206-4d65-aa46-179a55c0ceae	fdd52cce-70b6-4f2d-873b-dbfe5323841d	g.chrX:77284798_77284799insA	ENST00000341514.6	+	15	3123_3124	c.2968_2969insA	c.(2968-2970)caafs	p.Q990fs	ATP7A_ENST00000343533.5_Frame_Shift_Ins_p.Q912fs|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	990					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATTTGCTTTCCAAGCCTCTATC	0.431																																																0																																										SO:0001589	frameshift_variant	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2970dupA	X.37:g.77284800_77284800dupA	ENSP00000345728:p.Gln990fs		B1AT72|O00227|O00745|Q9BYY8	Frame_Shift_Ins	INS	ENST00000341514.6	37	CCDS35339.1																																																																																				0.431	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		A	77284799	-	A	77284798	7	5	549	1	0	1	1	0	0	0	0	0	1190	595	21	0	3022	0	ATP7A	23	77284798	Frame_Shift_Ins	INS	-	TCGA-CJ-5683-01A-11D-1534-10		77284798	77985762	76	29593											
ESPN	83715	broad.mit.edu;hgsc.bcm.edu	37	1	6504722	6504722	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr1:6504722A>G	ENST00000377828.1	+	6	1340	c.1172A>G	c.(1171-1173)aAg>aGg	p.K391R	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	391					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)	p.K391R(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TCCAGCATCAAGGGCCAGCAC	0.617																																																1	Substitution - Missense(1)	kidney(1)											81	67	72					1																	6504722		2203	4300	6503	SO:0001583	missense	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1172A>G	1.37:g.6504722A>G	ENSP00000367059:p.Lys391Arg		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	CCDS70.1	.	.	.	.	.	.	.	.	.	.	a	8.685	0.906166	0.17760	.	.	ENSG00000187017	ENST00000377828;ENST00000418286	D;D	0.88046	-2.33;-2.33	3.6	2.44	0.29823	.	0.186932	0.35235	N	0.003351	T	0.71426	0.3338	N	0.17082	0.46	0.80722	D	1	B	0.19445	0.036	B	0.16289	0.015	T	0.63589	-0.6603	10	0.32370	T	0.25	-20.9527	3.3627	0.07193	0.6337:0.0:0.3663:0.0	.	391	B1AK53	ESPN_HUMAN	R	391;176	ENSP00000367059:K391R;ENSP00000401793:K176R	ENSP00000367059:K391R	K	+	2	0	ESPN	6427309	1.000000	0.71417	0.954000	0.39281	0.117000	0.20001	3.639000	0.54339	1.514000	0.48869	0.398000	0.26397	AAG		0.617	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		G	6504722	A	G	6504722	3	3	550	1	0	0	0	0	1	0	0	0	5256	72	3	3	1194	3	ESPN	1	6504722	Missense_Mutation	SNP	A	TCGA-CJ-5684-01A-11D-1534-10		6504722	242745899	1	29594											
LOC440563	0	broad.mit.edu	37	1	13183480	13183480	+	IGR	SNP	A	A	G			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr1:13183480A>G								RP13-221M14.3 (19012 upstream) : PRAMEF26 (32875 downstream)																							GAGGAGGAGGAGGTACACGTG	0.507																																																0													94	74	80					1																	13183480		692	1591	2283	SO:0001628	intergenic_variant	440563																															1.37:g.13183480A>G				Silent	SNP		37																																																																																				0	0.507									G	13183480	A	G	13183480	1	3	550	0	1	0	0	0	0	0	0	0	8881	291	11	3		3	LOC440563	1	13183480	IGR	SNP	A	TCGA-CJ-5684-01A-11D-1534-10	6678758	13183480	236067141	2	29595											
ZMYM6	9204	broad.mit.edu	37	1	35453715	35453715	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr1:35453715A>C	ENST00000357182.4	-	16	3195	c.2968T>G	c.(2968-2970)Tat>Gat	p.Y990D	ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6NB_ENST00000373337.3_5'Flank|RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	990					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y990D(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				aaaccagaatacctgccagtc	0.358																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2968T>G	1.37:g.35453715A>C	ENSP00000349708:p.Tyr990Asp		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	A	8.629	0.893304	0.17613	.	.	ENSG00000163867	ENST00000357182	T	0.21932	1.98	4.36	4.36	0.52297	Ribonuclease H-like (1);	1.167690	0.06344	N	0.708515	T	0.20618	0.0496	L	0.39898	1.24	0.80722	D	1	P	0.36712	0.566	B	0.35727	0.209	T	0.04723	-1.0931	10	0.36615	T	0.2	2.1055	10.2456	0.43339	1.0:0.0:0.0:0.0	.	990	O95789	ZMYM6_HUMAN	D	990	ENSP00000349708:Y990D	ENSP00000349708:Y990D	Y	-	1	0	ZMYM6	35226302	0.995000	0.38212	0.999000	0.59377	0.914000	0.54420	1.376000	0.34306	2.193000	0.70182	0.533000	0.62120	TAT		0.358	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		C	35453715	A	C	35453715	3	2	550	1	0	0	0	0	1	0	0	0	17709	391	14	5	1013	5	ZMYM6	1	35453715	Missense_Mutation	SNP	A	TCGA-CJ-5684-01A-11D-1534-10	22270235	35453715	213796906	3	29596											
TXNIP	10628	broad.mit.edu;hgsc.bcm.edu	37	1	145438828	145438828	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr1:145438828C>A	ENST00000369317.4	+	1	360	c.26C>A	c.(25-27)tCt>tAt	p.S9Y	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	9					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.S9Y(2)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGATCAAGTCTTTTGAGGTG	0.458																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											97	94	95					1																	145438828		2203	4300	6503	SO:0001583	missense	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.26C>A	1.37:g.145438828C>A	ENSP00000358323:p.Ser9Tyr		B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	CCDS913.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032784	0.54790	.	.	ENSG00000117289	ENST00000369317	T	0.09538	2.97	5.64	5.64	0.86602	.	0.657828	0.16039	N	0.232503	T	0.05273	0.0140	L	0.39898	1.24	0.36127	D	0.845887	B	0.25955	0.138	B	0.19391	0.025	T	0.10086	-1.0645	10	0.66056	D	0.02	-29.6416	12.861	0.57913	0.0:0.8362:0.1638:0.0	.	9	Q9H3M7	TXNIP_HUMAN	Y	9	ENSP00000358323:S9Y	ENSP00000358323:S9Y	S	+	2	0	TXNIP	144150185	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.621000	0.24418	2.665000	0.90641	0.655000	0.94253	TCT		0.458	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		A	145438828	C	A	145438828	3	1	550	1	0	0	0	0	1	0	0	0	16808	913	32	4	28	4	TXNIP	1	145438828	Missense_Mutation	SNP	C	TCGA-CJ-5684-01A-11D-1534-10	109985113	145438828	103811793	4	29597											
TCHH	7062	broad.mit.edu;ucsc.edu	37	1	152084846	152084846	+	Silent	SNP	G	G	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr1:152084846G>T	ENST00000368804.1	-	2	846	c.847C>A	c.(847-849)Cgg>Agg	p.R283R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	283					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R283R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTCTTGCCGCTCCAGCTTC	0.617																																																1	Substitution - coding silent(1)	kidney(1)											78	89	85					1																	152084846		2122	4250	6372	SO:0001819	synonymous_variant	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.847C>A	1.37:g.152084846G>T			Q5VUI3	Silent	SNP	ENST00000368804.1	37	CCDS41396.1																																																																																				0.617	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		T	152084846	G	T	152084846	2	4	550	1	0	0	0	0	0	0	0	1	15705	1086	38	4		4	TCHH	1	152084846	Silent	SNP	G	TCGA-CJ-5684-01A-11D-1534-10	6646018	152084846	97165775	5	29598											
DYRK3	8444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	206822222	206822222	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr1:206822222G>T	ENST00000367109.2	+	3	1847	c.1679G>T	c.(1678-1680)gGa>gTa	p.G560V	DYRK3_ENST00000367108.3_Missense_Mutation_p.G540V|DYRK3_ENST00000367106.1_Missense_Mutation_p.G540V|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	560					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.G560V(1)|p.G525V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCAGTTGTTGGAATAGCCAAT	0.448																																					Melanoma(164;427 2622 26826 51707)											2	Substitution - Missense(2)	kidney(2)											91	83	86					1																	206822222		2203	4300	6503	SO:0001583	missense	8444			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"regulatory erythroid kinase", "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5", "protein kinase Dyrk3"	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1679G>T	1.37:g.206822222G>T	ENSP00000356076:p.Gly560Val		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481840	0.44147	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.71222	-0.55;-0.45;-0.45	5.44	5.44	0.79542	.	0.047684	0.85682	D	0.000000	T	0.70430	0.3223	L	0.58101	1.795	0.80722	D	1	B;B	0.29085	0.232;0.045	B;B	0.34590	0.186;0.142	T	0.68746	-0.5327	10	0.46703	T	0.11	.	15.6041	0.76649	0.0:0.1375:0.8624:0.0	.	560;540	O43781;O43781-2	DYRK3_HUMAN;.	V	560;540;540	ENSP00000356076:G560V;ENSP00000356075:G540V;ENSP00000356073:G540V	ENSP00000356073:G540V	G	+	2	0	DYRK3	204888845	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.346000	0.79347	2.834000	0.97654	0.650000	0.86243	GGA		0.448	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		T	206822222	G	T	206822222	3	4	550	1	0	0	0	0	1	0	0	0	4859	1174	41	4	1710	4	DYRK3	1	206822222	Missense_Mutation	SNP	G	TCGA-CJ-5684-01A-11D-1534-10	54737376	206822222	42428399	6	29599											
THSD7B	80731	broad.mit.edu;ucsc.edu	37	2	138421031	138421031	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr2:138421031C>A	ENST00000409968.1	+	26	4715	c.4537C>A	c.(4537-4539)Cca>Aca	p.P1513T	THSD7B_ENST00000413152.2_Missense_Mutation_p.P1485T|THSD7B_ENST00000272643.3_Missense_Mutation_p.P1516T			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1515						integral component of membrane (GO:0016021)		p.P1485T(1)|p.P1516T(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATGAAAGTACCAGGCTCAGA	0.363																																																2	Substitution - Missense(2)	kidney(2)											79	74	76					2																	138421031		1841	4096	5937	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4537C>A	2.37:g.138421031C>A	ENSP00000387145:p.Pro1513Thr			Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	.	24.4	4.531564	0.85706	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.26067	2.28;2.15;1.76	6.02	5.14	0.70334	.	0.049873	0.85682	D	0.000000	T	0.45617	0.1351	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	P	0.61722	0.893	T	0.26503	-1.0101	10	0.51188	T	0.08	.	14.7748	0.69724	0.0:0.9315:0.0:0.0685	.	1485	C9JKN6	.	T	1513;1516;1485	ENSP00000387145:P1513T;ENSP00000272643:P1516T;ENSP00000413841:P1485T	ENSP00000272643:P1516T	P	+	1	0	THSD7B	138137501	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.519000	0.60517	2.866000	0.98385	0.650000	0.86243	CCA		0.363	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	138421031	C	A	138421031	3	1	550	1	0	0	0	0	1	0	0	0	15885	507	18	4	4547	4	THSD7B	2	138421031	Missense_Mutation	SNP	C	TCGA-CJ-5684-01A-11D-1534-10		138421031	104778342	7	29600											
ZSWIM2	151112	hgsc.bcm.edu	37	2	187692936	187692937	+	In_Frame_Ins	INS	-	-	GGG			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr2:187692936_187692937insGGG	ENST00000295131.2	-	9	1715_1716	c.1676_1677insCCC	c.(1675-1677)cct>ccCCCt	p.559_559P>PP		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	559					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTTAGTGGCAGGAGTCTTCTT	0.381																																																0																																										SO:0001652	inframe_insertion	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1676_1677insCCC	2.37:g.187692936_187692937insGGG	ENSP00000295131:p.Pro559dup		B3KXV6|Q53SI3|Q57ZY3	In_Frame_Ins	INS	ENST00000295131.2	37	CCDS33348.1																																																																																				0.381	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		GGG	187692937	-	GGG	187692936	7	5	550	1	0	1	1	0	0	0	0	0	18246	175	7	0	228	0	ZSWIM2	2	187692936	In_Frame_Ins	INS	-	TCGA-CJ-5684-01A-11D-1534-10	49271905	187692936	55506437	8	29601											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188205	10188205	+	Silent	SNP	T	T	C			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr3:10188205T>C	ENST00000256474.2	+	2	1188	c.348T>C	c.(346-348)ctT>ctC	p.L116L	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)|p.H115fs*41(1)|p.L116L(1)|p.W117fs*40(1)|p.H115fs*42(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TAGGTCACCTTTGGCTCTTCA	0.527		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	6	Deletion - Frameshift(3)|Unknown(2)|Substitution - coding silent(1)	kidney(6)											174	161	165					3																	10188205		2203	4300	6503	SO:0001819	synonymous_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.348T>C	3.37:g.10188205T>C			B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10188205	T	C	10188205	2	2	550	1	0	0	0	0	0	0	0	1	17167	1828	64	3		3	VHL	3	10188205	Silent	SNP	T	TCGA-CJ-5684-01A-11D-1534-10		10188205	187834225	9	29602	211	2									
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188208	10188208	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr3:10188208G>C	ENST00000256474.2	+	2	1191	c.351G>C	c.(349-351)tgG>tgC	p.W117C	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	117	Involved in binding to CCT complex.		W -> C (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W117C(4)|p.W117*(2)|p.?(1)|p.W117fs*40(1)|p.W117fs*42(1)|p.W117fs*1(1)|p.H115fs*41(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCACCTTTGGCTCTTCAGAG	0.512		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Substitution - Missense(4)|Deletion - Frameshift(4)|Substitution - Nonsense(2)|Unknown(1)	kidney(10)|upper_aerodigestive_tract(1)	GRCh37	CM951286|HM971481	VHL	M							178	165	169					3																	10188208		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.351G>C	3.37:g.10188208G>C	ENSP00000256474:p.Trp117Cys		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903601	0.52333	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99962	-9.39	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99961	0.9984	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	D	0.94819	0.7985	10	0.87932	D	0	-0.0021	16.3181	0.82935	0.0:0.0:1.0:0.0	.	117	P40337	VHL_HUMAN	C	117;35	ENSP00000256474:W117C	ENSP00000256474:W117C	W	+	3	0	VHL	10163208	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	7.278000	0.78587	2.530000	0.85305	0.563000	0.77884	TGG		0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10188208	G	C	10188208	3	2	550	1	0	0	0	0	1	0	0	0	17167	1212	42	4	357	4	VHL	3	10188208	Missense_Mutation	SNP	G	TCGA-CJ-5684-01A-11D-1534-10	3	10188208	187834222	10	29603	211	2									
CYP8B1	1582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	42916230	42916230	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr3:42916230A>G	ENST00000316161.4	-	1	1403	c.1079T>C	c.(1078-1080)gTt>gCt	p.V360A	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.V360A|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	360					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.V360A(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTCTTCATGAACCAACCTGAG	0.572																																																1	Substitution - Missense(1)	kidney(1)											65	63	64					3																	42916230		2203	4300	6503	SO:0001583	missense	1582			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1079T>C	3.37:g.42916230A>G	ENSP00000318867:p.Val360Ala		B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859163	0.32884	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01165	5.24;5.24	5.05	3.89	0.44902	.	0.081290	0.48767	N	0.000164	T	0.02610	0.0079	L	0.28054	0.825	0.49130	D	0.999753	D;D	0.71674	0.998;0.993	D;D	0.67382	0.951;0.951	T	0.64630	-0.6362	10	0.48119	T	0.1	-10.4425	9.9161	0.41434	0.9169:0.0:0.0831:0.0	.	360;360	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	A	360	ENSP00000404499:V360A;ENSP00000318867:V360A	ENSP00000318867:V360A	V	-	2	0	CYP8B1	42891234	1.000000	0.71417	0.003000	0.11579	0.001000	0.01503	9.224000	0.95209	0.756000	0.33013	-0.441000	0.05720	GTT		0.572	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		G	42916230	A	G	42916230	3	3	550	1	0	0	0	0	1	0	0	0	4200	43	2	3	430	3	CYP8B1	3	42916230	Missense_Mutation	SNP	A	TCGA-CJ-5684-01A-11D-1534-10	32728022	42916230	155106200	11	29604											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47158115	47158115	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr3:47158115T>A	ENST00000409792.3	-	4	4626	c.4584A>T	c.(4582-4584)gaA>gaT	p.E1528D		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1528	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E1025D(1)|p.E1528D(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTACTTACCATTCAATCATGA	0.338			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											123	124	124					3																	47158115		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4584A>T	3.37:g.47158115T>A	ENSP00000386759:p.Glu1528Asp		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329269	0.81690	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.87729	-2.29	5.93	0.849	0.18972	AWS (2);	0.000000	0.56097	D	0.000021	D	0.94703	0.8291	H	0.96996	3.92	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	D	0.93412	0.6769	10	0.87932	D	0	.	10.2808	0.43539	0.0:0.3729:0.0:0.6271	.	1528;1528	F2Z317;Q9BYW2	.;SETD2_HUMAN	D	1528	ENSP00000386759:E1528D	ENSP00000386759:E1528D	E	-	3	2	SETD2	47133119	0.994000	0.37717	0.998000	0.56505	0.988000	0.76386	0.251000	0.18257	-0.071000	0.12886	0.482000	0.46254	GAA		0.338	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47158115	T	A	47158115	3	1	550	1	0	0	0	0	1	0	0	0	14137	1490	52	5	3182	5	SETD2	3	47158115	Missense_Mutation	SNP	T	TCGA-CJ-5684-01A-11D-1534-10	4241885	47158115	150864315	12	29605											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52610695	52610695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr3:52610695G>A	ENST00000296302.7	-	22	3554	c.3553C>T	c.(3553-3555)Cga>Tga	p.R1185*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R1153*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1160*|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1185	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1185*(3)|p.R1153*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCTCCATCTCGAACCCATACT	0.338			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	4	Substitution - Nonsense(4)	kidney(4)											76	73	74					3																	52610695		2202	4300	6502	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3553C>T	3.37:g.52610695G>A	ENSP00000296302:p.Arg1185*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	41	8.826239	0.98968	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1593	15.0475	0.71838	0.0:0.0:0.8573:0.1427	.	.	.	.	X	1153;1160;1185;1185;1185;1160;1200;1200;1184	.	ENSP00000296302:R1185X	R	-	1	2	PBRM1	52585735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.391000	0.66266	2.664000	0.90586	0.591000	0.81541	CGA		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52610695	G	A	52610695	4	1	550	1	0	0	0	0	0	1	0	0	11493	1066	37	1	1383	1	PBRM1	3	52610695	Nonsense_Mutation	SNP	G	TCGA-CJ-5684-01A-11D-1534-10	5452580	52610695	145411735	13	29606											
IMPG2	50939	broad.mit.edu;ucsc.edu|broad.mit.edu	37	3	101038458	101038459	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr3:101038458_101038459CC>AA	ENST00000193391.7	-	2	490_491	c.303_304GG>TT	c.(301-306)gtGGca>gtTTca	p.A102S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	102					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.A102S(1)|p.V101V(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ACATGATTTGCCACAGCCTCTG	0.391																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.303_304delinsAA	3.37:g.101038458_101038459delinsAA	ENSP00000193391:p.Ala102Ser		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation|Silent	SNP	ENST00000193391.7	37	CCDS2940.1																																																																																				0.391	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			AA	101038459	CC	AA	101038458	3	1	550	1	0	0	0	0	1	0	0	0	7731	739	26	4	3493	4	IMPG2	3	101038458	Missense_Mutation	DNP	CC	TCGA-CJ-5684-01A-11D-1534-10	48427763	101038458	96983972	14	29607											
CENPE	1062	broad.mit.edu;ucsc.edu	37	4	104097155	104097155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr4:104097155C>A	ENST00000265148.3	-	15	1530	c.1441G>T	c.(1441-1443)Gag>Tag	p.E481*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.E481*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	481					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.E481*(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CATTCTATCTCACTTAATGTA	0.279																																																1	Substitution - Nonsense(1)	kidney(1)											109	111	110					4																	104097155		2203	4296	6499	SO:0001587	stop_gained	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1441G>T	4.37:g.104097155C>A	ENSP00000265148:p.Glu481*		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	37	6.000265	0.97189	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.295	0.73898	0.0:1.0:0.0:0.0	.	.	.	.	X	481	.	ENSP00000265148:E481X	E	-	1	0	CENPE	104316604	0.673000	0.27539	0.148000	0.22405	0.665000	0.39181	3.413000	0.52686	2.679000	0.91253	0.557000	0.71058	GAG		0.279	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104097155	C	A	104097155	4	1	550	1	0	0	0	0	0	1	0	0	3232	835	29	4	6804	4	CENPE	4	104097155	Nonsense_Mutation	SNP	C	TCGA-CJ-5684-01A-11D-1534-10		104097155	87057121	15	29608											
SLC12A2	6558	broad.mit.edu;ucsc.edu	37	5	127488499	127488499	+	Splice_Site	SNP	T	T	G			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr5:127488499T>G	ENST00000262461.2	+	15	2552		c.e15+2		SLC12A2_ENST00000343225.4_Splice_Site	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.?(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AAACTTTAGGTAAGTGATAAA	0.393																																																1	Unknown(1)	kidney(1)											82	79	80					5																	127488499		2203	4300	6503	SO:0001630	splice_region_variant	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2363+2T>G	5.37:g.127488499T>G			Q8N713|Q8WWH7	Splice_Site	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.761328	0.49468	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0912	0.72195	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A2	127516398	1.000000	0.71417	0.936000	0.37596	0.295000	0.27426	7.453000	0.80700	2.147000	0.66899	0.377000	0.23210	.		0.393	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	Intron	G	127488499	T	G	127488499	5	3	550	1	0	0	0	0	0	0	1	0	14389	1652	57	5	2423	5	SLC12A2	5	127488499	Splice_Site	SNP	T	TCGA-CJ-5684-01A-11D-1534-10		127488499	53426761	16	29609											
GRM4	2914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33996013	33996013	+	Missense_Mutation	SNP	C	C	T	rs371727193		TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr6:33996013C>T	ENST00000538487.2	-	10	3016	c.2573G>A	c.(2572-2574)cGc>cAc	p.R858H	GRM4_ENST00000535756.1_Missense_Mutation_p.R725H|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.R858H|GRM4_ENST00000455714.2_Missense_Mutation_p.R718H|GRM4_ENST00000374177.3_Missense_Mutation_p.R742H|GRM4_ENST00000609222.1_Missense_Mutation_p.R725H|GRM4_ENST00000544773.2_Missense_Mutation_p.R689H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	858					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R858H(2)|p.R742H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTTGAGGCTGCGCTTGCGCTT	0.602																																																3	Substitution - Missense(3)	kidney(3)						C	HIS/ARG	0,4406		0,0,2203	110	92	98		2573	4.3	1	6		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRM4	NM_000841.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	858/913	33996013	1,13005	2203	4300	6503	SO:0001583	missense	2914			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2573G>A	6.37:g.33996013C>T	ENSP00000440556:p.Arg858His		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628904	0.87560	0.0	1.16E-4	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.89196	-2.46;-2.48;-2.22;-2.26;-2.28;-2.46;-2.3	4.28	4.28	0.50868	GPCR, family 3, C-terminal (1);	0.230852	0.36555	N	0.002526	D	0.92028	0.7474	M	0.72353	2.195	0.58432	D	0.999999	B;B;D;D;B	0.76494	0.029;0.029;0.999;0.998;0.071	B;B;D;P;B	0.63113	0.009;0.023;0.911;0.818;0.023	D	0.92524	0.6027	10	0.56958	D	0.05	.	16.8937	0.86094	0.0:1.0:0.0:0.0	.	811;689;718;858;725	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	H	858;742;550;725;689;858;718	ENSP00000363296:R858H;ENSP00000363292:R742H;ENSP00000445533:R550H;ENSP00000437925:R725H;ENSP00000437730:R689H;ENSP00000440556:R858H;ENSP00000398456:R718H	ENSP00000363292:R742H	R	-	2	0	GRM4	34103991	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.871000	0.69628	2.218000	0.71995	0.478000	0.44815	CGC		0.602	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			T	33996013	C	T	33996013	3	4	550	1	0	0	0	0	1	0	0	0	6801	768	27	1	173	1	GRM4	6	33996013	Missense_Mutation	SNP	C	TCGA-CJ-5684-01A-11D-1534-10		33996013	137119054	17	29610											
FBXL4	26235	hgsc.bcm.edu;ucsc.edu	37	6	99365322	99365322	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr6:99365322delA	ENST00000369244.2	-	5	1214	c.786delT	c.(784-786)cttfs	p.L262fs	FBXL4_ENST00000229971.1_Frame_Shift_Del_p.L262fs	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	262					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ACTTTTTGTTAAGACTGTCCA	0.393																																																0													151	141	145					6																	99365322		2203	4299	6502	SO:0001589	frameshift_variant	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.786delT	6.37:g.99365322delA	ENSP00000358247:p.Leu262fs		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Frame_Shift_Del	DEL	ENST00000369244.2	37	CCDS5041.1																																																																																				0.393	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			-	99365322	A	-	99365322	7	5	550	1	0	1	0	1	0	0	0	0	5723	349	13	0	1103	0	FBXL4	6	99365322	Frame_Shift_Del	DEL	A	TCGA-CJ-5684-01A-11D-1534-10	65369309	99365322	71749745	18	29611	212	2									
FBXL4	26235	hgsc.bcm.edu;ucsc.edu	37	6	99365325	99365326	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr6:99365325_99365326delAC	ENST00000369244.2	-	5	1210_1211	c.782_783delGT	c.(781-783)agtfs	p.S261fs	FBXL4_ENST00000229971.1_Frame_Shift_Del_p.S261fs	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	261					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTTTGTTAAGACTGTCCATTCC	0.401																																																0																																										SO:0001589	frameshift_variant	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.782_783delGT	6.37:g.99365325_99365326delAC	ENSP00000358247:p.Ser261fs		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Frame_Shift_Del	DEL	ENST00000369244.2	37	CCDS5041.1																																																																																				0.401	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			-	99365326	AC	-	99365325	7	5	550	1	0	1	0	1	0	0	0	0	5723	272	10	0	1106	0	FBXL4	6	99365325	Frame_Shift_Del	DEL	AC	TCGA-CJ-5684-01A-11D-1534-10	3	99365325	71749742	19	29612	212	2									
MAP3K4	4216	hgsc.bcm.edu	37	6	161519378	161519378	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr6:161519378C>T	ENST00000392142.4	+	17	3741	c.3593C>T	c.(3592-3594)gCt>gTt	p.A1198V	MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1198	Poly-Ala.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		gctgctgctgctgctgttgct	0.597																																																0													93	92	92					6																	161519378		2203	4299	6502	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3593C>T	6.37:g.161519378C>T	ENSP00000375986:p.Ala1198Val		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.360800	0.01245	.	.	ENSG00000085511	ENST00000392142;ENST00000366920	T;T	0.71103	-0.54;-0.53	2.29	2.29	0.28610	.	0.754387	0.11657	N	0.542271	T	0.51227	0.1662	N	0.19112	0.55	0.26345	N	0.977309	B;D	0.57571	0.073;0.98	B;D	0.65443	0.037;0.935	T	0.39354	-0.9618	10	0.10377	T	0.69	-7.006	8.5531	0.33465	0.0:1.0:0.0:0.0	.	1194;1198	F5H538;Q9Y6R4	.;M3K4_HUMAN	V	1198;1194	ENSP00000375986:A1198V;ENSP00000355887:A1194V	ENSP00000355887:A1194V	A	+	2	0	MAP3K4	161439368	0.010000	0.17322	0.105000	0.21289	0.511000	0.34104	0.116000	0.15561	1.726000	0.51525	0.366000	0.22137	GCT		0.597	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			T	161519378	C	T	161519378	3	4	550	1	0	0	0	0	1	0	0	0	9254	797	28	2	3659	2	MAP3K4	6	161519378	Missense_Mutation	SNP	C	TCGA-CJ-5684-01A-11D-1534-10	62154053	161519378	9595689	20	29613											
TYW1	55253	broad.mit.edu;hgsc.bcm.edu	37	7	66532334	66532334	+	Silent	SNP	C	C	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr7:66532334C>T	ENST00000359626.5	+	10	1382	c.1218C>T	c.(1216-1218)cgC>cgT	p.R406R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	406					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.R406R(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGAGCCATCGCTGCATGGAAA	0.418																																																1	Substitution - coding silent(1)	kidney(1)											156	141	146					7																	66532334		2203	4300	6503	SO:0001819	synonymous_variant	55253			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1218C>T	7.37:g.66532334C>T			Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																				0.418	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		T	66532334	C	T	66532334	2	4	550	1	0	0	0	0	0	0	0	1	16823	784	28	2		2	TYW1	7	66532334	Silent	SNP	C	TCGA-CJ-5684-01A-11D-1534-10		66532334	92606329	21	29614											
SDR16C5	195814	broad.mit.edu;ucsc.edu	37	8	57214061	57214061	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr8:57214061A>G	ENST00000303749.3	-	7	1545	c.908T>C	c.(907-909)gTt>gCt	p.V303A	SDR16C5_ENST00000396721.2_Missense_Mutation_p.V259A|SDR16C5_ENST00000522671.1_3'UTR	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	303					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)	p.V303A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CTTTTGGTCAACAAAGCCATC	0.383																																																1	Substitution - Missense(1)	kidney(1)											228	211	217					8																	57214061		2203	4300	6503	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.908T>C	8.37:g.57214061A>G	ENSP00000307607:p.Val303Ala		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	A	8.721	0.914268	0.17907	.	.	ENSG00000170786	ENST00000396721;ENST00000303749	T;D	0.81499	-1.26;-1.5	5.63	-8.2	0.01045	.	1.141100	0.06472	N	0.731352	T	0.64594	0.2612	L	0.47016	1.485	0.09310	N	1	B;B	0.21225	0.053;0.0	B;B	0.25405	0.06;0.001	T	0.51052	-0.8754	10	0.19590	T	0.45	.	0.8634	0.01198	0.2193:0.2:0.3662:0.2145	.	259;303	Q8N3Y7-2;Q8N3Y7	.;RDHE2_HUMAN	A	259;303	ENSP00000379947:V259A;ENSP00000307607:V303A	ENSP00000307607:V303A	V	-	2	0	SDR16C5	57376615	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.474000	0.06607	-0.911000	0.03843	-0.408000	0.06270	GTT		0.383	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		G	57214061	A	G	57214061	3	3	550	1	0	0	0	0	1	0	0	0	13977	43	2	3	25	3	SDR16C5	8	57214061	Missense_Mutation	SNP	A	TCGA-CJ-5684-01A-11D-1534-10		57214061	89149961	22	29615											
KIAA1429	25962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	95530150	95530150	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr8:95530150G>A	ENST00000297591.5	-	10	2609	c.2534C>T	c.(2533-2535)tCa>tTa	p.S845L	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S845L|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S845L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	845					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S845L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATAAGCTACTGACTTCTTAGA	0.313																																																1	Substitution - Missense(1)	kidney(1)											91	79	83					8																	95530150		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2534C>T	8.37:g.95530150G>A	ENSP00000297591:p.Ser845Leu		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168237	0.94768	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.60920	0.15;0.19;0.18	5.33	5.33	0.75918	.	0.225119	0.39083	N	0.001480	T	0.60077	0.2241	L	0.32530	0.975	0.80722	D	1	P;P	0.50819	0.939;0.939	P;P	0.50934	0.58;0.654	T	0.64313	-0.6437	10	0.72032	D	0.01	-11.8486	19.0493	0.93036	0.0:0.0:1.0:0.0	.	845;845	Q69YN4-4;Q69YN4	.;VIR_HUMAN	L	845	ENSP00000297591:S845L;ENSP00000395600:S845L;ENSP00000398390:S845L	ENSP00000297591:S845L	S	-	2	0	KIAA1429	95599326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.624000	0.98398	2.490000	0.84030	0.655000	0.94253	TCA		0.313	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		A	95530150	G	A	95530150	3	1	550	1	0	0	0	0	1	0	0	0	8233	1294	45	2	3018	2	KIAA1429	8	95530150	Missense_Mutation	SNP	G	TCGA-CJ-5684-01A-11D-1534-10	38316089	95530150	50833872	23	29616											
TEK	7010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	27109633	27109633	+	Silent	SNP	C	C	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr9:27109633C>T	ENST00000380036.4	+	1	487	c.45C>T	c.(43-45)ctC>ctT	p.L15L	TEK_ENST00000519097.1_Silent_p.L15L|TEK_ENST00000406359.4_Silent_p.L15L	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	15					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L15L(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCAGCTTGCTCCTTTCTGGTA	0.418																																																1	Substitution - coding silent(1)	kidney(1)											222	203	210					9																	27109633		2203	4300	6503	SO:0001819	synonymous_variant	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.45C>T	9.37:g.27109633C>T			A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	CCDS6519.1																																																																																				0.418	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			T	27109633	C	T	27109633	2	4	550	1	0	0	0	0	0	0	0	1	15756	842	30	2		2	TEK	9	27109633	Silent	SNP	C	TCGA-CJ-5684-01A-11D-1534-10		27109633	114103798	24	29617											
USP20	10868	hgsc.bcm.edu;ucsc.edu	37	9	132636882	132636883	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr9:132636882_132636883insT	ENST00000315480.4	+	18	1926_1927	c.1768_1769insT	c.(1768-1770)cggfs	p.R590fs	USP20_ENST00000372429.3_Frame_Shift_Ins_p.R590fs|USP20_ENST00000358355.1_Frame_Shift_Ins_p.R590fs			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	590	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AAAGCGCTTTCGGCACGAGGTG	0.609																																																0																																										SO:0001589	frameshift_variant	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	Exception_encountered	9.37:g.132636882_132636883insT	ENSP00000313811:p.Arg590fs		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Frame_Shift_Ins	INS	ENST00000315480.4	37	CCDS43892.1																																																																																				0.609	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			T	132636883	-	T	132636882	7	5	550	1	0	1	1	0	0	0	0	0	17057	875	31	0	1830	0	USP20	9	132636882	Frame_Shift_Ins	INS	-	TCGA-CJ-5684-01A-11D-1534-10	105527249	132636882	8576549	25	29618	213	2									
USP20	10868	hgsc.bcm.edu	37	9	132636883	132636883	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr9:132636883G>T	ENST00000315480.4	+	18	1927	c.1769G>T	c.(1768-1770)cGg>cTg	p.R590L	USP20_ENST00000372429.3_Missense_Mutation_p.R590L|USP20_ENST00000358355.1_Missense_Mutation_p.R590L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	590	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AAGCGCTTTCGGCACGAGGTG	0.607																																																0													65	70	69					9																	132636883		2117	4233	6350	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1769G>T	9.37:g.132636883G>T	ENSP00000313811:p.Arg590Leu		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290845	0.80914	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.31247	1.5;1.5;1.5	4.95	4.95	0.65309	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.069553	0.64402	D	0.000006	T	0.47469	0.1447	M	0.85859	2.78	0.80722	D	1	B	0.29988	0.264	B	0.37780	0.258	T	0.55522	-0.8128	10	0.72032	D	0.01	.	17.1774	0.86844	0.0:0.0:1.0:0.0	.	590	Q9Y2K6	UBP20_HUMAN	L	590	ENSP00000361506:R590L;ENSP00000313811:R590L;ENSP00000351122:R590L	ENSP00000313811:R590L	R	+	2	0	USP20	131676704	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.430000	0.97488	2.251000	0.74343	0.650000	0.86243	CGG		0.607	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			T	132636883	G	T	132636883	3	4	550	1	0	0	0	0	1	0	0	0	17057	1116	39	4	1831	4	USP20	9	132636883	Missense_Mutation	SNP	G	TCGA-CJ-5684-01A-11D-1534-10	1	132636883	8576548	26	29619	213	2									
LAMC3	10319	broad.mit.edu	37	9	133901946	133901947	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr9:133901946_133901947delCT	ENST00000361069.4	+	2	781_782	c.648_649delCT	c.(646-651)gcctacfs	p.Y217fs	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	217	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCCCAGCGCCTACAACTTCGA	0.668																																																0																																										SO:0001589	frameshift_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.648_649delCT	9.37:g.133901946_133901947delCT	ENSP00000354360:p.Tyr217fs		B1APX9|B1APY0|Q59H72	Frame_Shift_Del	DEL	ENST00000361069.4	37	CCDS6938.1																																																																																				0.668	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		-	133901947	CT	-	133901946	7	5	550	1	0	1	0	1	0	0	0	0	8618	668	24	0	654	0	LAMC3	9	133901946	Frame_Shift_Del	DEL	CT	TCGA-CJ-5684-01A-11D-1534-10	1265063	133901946	7311485	27	29620											
PCDH15	65217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	55755498	55755499	+	Missense_Mutation	DNP	TA	TA	CT			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr10:55755498_55755499TA>CT	ENST00000320301.6	-	21	3172_3173	c.2778_2779TA>AG	c.(2776-2781)ttTAgt>ttAGgt	p.926_927FS>LG	PCDH15_ENST00000395430.1_Missense_Mutation_p.926_927FS>LG|PCDH15_ENST00000395433.1_Missense_Mutation_p.904_905FS>LG|PCDH15_ENST00000437009.1_Missense_Mutation_p.855_856FS>LG|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.926_927FS>LG|PCDH15_ENST00000409834.1_Missense_Mutation_p.537_538FS>LG|PCDH15_ENST00000414778.1_Missense_Mutation_p.931_932FS>LG|PCDH15_ENST00000395438.1_Missense_Mutation_p.926_927FS>LG|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.933_934FS>LG|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.933_934FS>LG|PCDH15_ENST00000395432.2_Missense_Mutation_p.889_890FS>LG|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.926_927FS>LG	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	926	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.F926L(2)|p.S927G(2)|p.F931L(2)|p.S932G(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTCGTTTACTAAAGACAGGAG	0.411										HNSCC(58;0.16)																																						8	Substitution - Missense(8)	kidney(8)																																								SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2778_2779delinsCT	10.37:g.55755498_55755499delinsCT	ENSP00000322604:p.F926_S927delinsLG		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.411	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		CT	55755499	TA	CT	55755498	3	2	550	1	0	0	0	0	1	0	0	0	11513	1522	53	3	4759	3	PCDH15	10	55755498	Missense_Mutation	DNP	TA	TCGA-CJ-5684-01A-11D-1534-10		55755498	79779249	28	29621											
MMS19	64210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99229886	99229886	+	Splice_Site	SNP	C	C	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr10:99229886C>T	ENST00000438925.2	-	10	1181	c.846G>A	c.(844-846)ctG>ctA	p.L282L	MMS19_ENST00000370782.2_Splice_Site_p.L282L|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000327238.10_Splice_Site_p.L282L|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000355839.6_Splice_Site_p.L239L	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	282					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)	p.L282L(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AATCACTCACCAGAGTCTGTA	0.463								Direct reversal of damage																																								1	Substitution - coding silent(1)	kidney(1)											86	74	78					10																	99229886		2203	4300	6503	SO:0001630	splice_region_variant	64210			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.846+1G>A	10.37:g.99229886C>T			B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Silent	SNP	ENST00000438925.2	37	CCDS7464.1																																																																																				0.463	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2		Silent	T	99229886	C	T	99229886	5	4	550	1	0	0	0	0	0	0	1	0	9674	608	21	2	2334	2	MMS19	10	99229886	Splice_Site	SNP	C	TCGA-CJ-5684-01A-11D-1534-10	43474388	99229886	36304861	29	29622											
KCNC1	3746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	17793557	17793557	+	Missense_Mutation	SNP	G	G	A	rs369830206		TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr11:17793557G>A	ENST00000379472.3	+	2	946	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	KCNC1_ENST00000265969.6_Missense_Mutation_p.V306M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	306					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.V306M(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	AGCCAAGGACGTGCTGGGCTT	0.617																																																2	Substitution - Missense(2)	kidney(2)											97	87	90					11																	17793557		2200	4293	6493	SO:0001583	missense	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.916G>A	11.37:g.17793557G>A	ENSP00000368785:p.Val306Met		K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799698	0.70567	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.98493	-4.96;-4.96	4.95	4.95	0.65309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	L	0.55103	1.725	0.80722	D	1	P;D	0.76494	0.901;0.999	P;D	0.76575	0.588;0.988	D	0.99881	1.1113	10	0.62326	D	0.03	.	18.1947	0.89817	0.0:0.0:1.0:0.0	.	306;306	Q3KNS8;P48547	.;KCNC1_HUMAN	M	306	ENSP00000265969:V306M;ENSP00000368785:V306M	ENSP00000265969:V306M	V	+	1	0	KCNC1	17750133	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.869000	0.99810	2.290000	0.77057	0.561000	0.74099	GTG		0.617	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		A	17793557	G	A	17793557	3	1	550	1	0	0	0	0	1	0	0	0	8016	1145	40	1	922	1	KCNC1	11	17793557	Missense_Mutation	SNP	G	TCGA-CJ-5684-01A-11D-1534-10		17793557	117212959	30	29623											
TMEM86A	144110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18722527	18722527	+	Silent	SNP	C	C	T	rs551911585	byFrequency	TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr11:18722527C>T	ENST00000280734.2	+	2	165	c.69C>T	c.(67-69)tgC>tgT	p.C23C	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	23						integral component of membrane (GO:0016021)		p.C23C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						AGGCCACCTGCGTGTATTTTG	0.572													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18955	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											217	193	201					11																	18722527		2199	4293	6492	SO:0001819	synonymous_variant	144110			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.69C>T	11.37:g.18722527C>T			Q96AJ0	Silent	SNP	ENST00000280734.2	37	CCDS7844.1																																																																																				0.572	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		T	18722527	C	T	18722527	2	4	550	1	0	0	0	0	0	0	0	1	16213	776	27	1		1	TMEM86A	11	18722527	Silent	SNP	C	TCGA-CJ-5684-01A-11D-1534-10	928970	18722527	116283989	31	29624											
TNKS1BP1	85456	broad.mit.edu	37	11	57088165	57088165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr11:57088165delG	ENST00000532437.1	-	2	427	c.116delC	c.(115-117)cctfs	p.P39fs	TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.P39fs			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	39	Arg/Glu/Lys/Pro-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGGCTTGACAGGGGGTTTGGC	0.627																																																0													15	18	17					11																	57088165		2185	4275	6460	SO:0001589	frameshift_variant	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.116delC	11.37:g.57088165delG	ENSP00000437271:p.Pro39fs		A7E2F8|Q6PJ35|Q6ZV74	Frame_Shift_Del	DEL	ENST00000532437.1	37	CCDS7951.1																																																																																				0.627	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		-	57088165	G	-	57088165	7	5	550	1	0	1	0	1	0	0	0	0	16325	1000	35	0	5109	0	TNKS1BP1	11	57088165	Frame_Shift_Del	DEL	G	TCGA-CJ-5684-01A-11D-1534-10	38365638	57088165	77918351	32	29625											
C11orf63	79864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	122817268	122817268	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr11:122817268A>T	ENST00000531316.1	+	5	1789	c.1697A>T	c.(1696-1698)cAg>cTg	p.Q566L	C11orf63_ENST00000227349.2_Missense_Mutation_p.Q566L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	566					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.Q566L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TGGCTCACCCAGATAATGGAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											70	68	68					11																	122817268		2202	4299	6501	SO:0001583	missense	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1697A>T	11.37:g.122817268A>T	ENSP00000431669:p.Gln566Leu		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817648	0.32145	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.26518	1.73;1.73	5.66	3.34	0.38264	.	0.574985	0.16897	N	0.195045	T	0.36166	0.0957	M	0.72118	2.19	0.09310	N	1	P	0.49090	0.919	P	0.51229	0.663	T	0.12578	-1.0542	10	0.39692	T	0.17	-1.9717	8.5272	0.33313	0.8467:0.0:0.1533:0.0	.	566	Q6NUN7	CK063_HUMAN	L	566	ENSP00000227349:Q566L;ENSP00000431669:Q566L	ENSP00000227349:Q566L	Q	+	2	0	C11orf63	122322478	0.066000	0.20996	0.140000	0.22221	0.396000	0.30629	1.662000	0.37418	0.427000	0.26145	0.533000	0.62120	CAG		0.468	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		T	122817268	A	T	122817268	3	4	550	1	0	0	0	0	1	0	0	0	1656	188	7	5	1779	5	C11orf63	11	122817268	Missense_Mutation	SNP	A	TCGA-CJ-5684-01A-11D-1534-10	65729103	122817268	12189248	33	29626											
AKAP3	10566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	4747326	4747326	+	Nonsense_Mutation	SNP	C	C	A	rs570803135		TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr12:4747326C>A	ENST00000545990.2	-	4	561	c.37G>T	c.(37-39)Gga>Tga	p.G13*	AKAP3_ENST00000228850.1_Nonsense_Mutation_p.G13*|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	13					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.G13*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTGCATACTCCATTTTGGCTT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		18372	0.0		0.0	False		,,,				2504	0.001															2	Substitution - Nonsense(2)	kidney(2)											240	238	239					12																	4747326		2203	4300	6503	SO:0001587	stop_gained	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.37G>T	12.37:g.4747326C>A	ENSP00000440994:p.Gly13*		O75945|Q86X01|Q9UM61	Nonsense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063108	0.93898	.	.	ENSG00000111254	ENST00000228850;ENST00000545990;ENST00000540967;ENST00000536414	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.959	16.4468	0.83936	0.0:1.0:0.0:0.0	.	.	.	.	X	13	.	ENSP00000228850:G13X	G	-	1	0	AKAP3	4617587	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	3.839000	0.55835	2.868000	0.98415	0.557000	0.71058	GGA		0.408	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		A	4747326	C	A	4747326	4	1	550	1	0	0	0	0	0	1	0	0	452	603	21	4	2536	4	AKAP3	12	4747326	Nonsense_Mutation	SNP	C	TCGA-CJ-5684-01A-11D-1534-10		4747326	129104569	34	29627											
VWF	7450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6091108	6091108	+	Silent	SNP	C	C	T	rs267607359|rs267607360		TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr12:6091108C>T	ENST00000261405.5	-	42	7385	c.7131G>A	c.(7129-7131)ccG>ccA	p.P2377P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGG	0.607																																																1	Substitution - coding silent(1)	kidney(1)	GRCh37	CI983256	VWF	I	rs61750632						77	67	71					12																	6091108		2203	4300	6503	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7131G>A	12.37:g.6091108C>T			Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6091108	C	T	6091108	2	4	550	1	0	0	0	0	0	0	0	1	17251	755	27	1		1	VWF	12	6091108	Silent	SNP	C	TCGA-CJ-5684-01A-11D-1534-10	1343782	6091108	127760787	35	29628											
E2F7	144455	broad.mit.edu;ucsc.edu	37	12	77424037	77424037	+	Silent	SNP	G	G	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr12:77424037G>T	ENST00000322886.7	-	10	1693	c.1458C>A	c.(1456-1458)ctC>ctA	p.L486L	E2F7_ENST00000416496.2_Silent_p.L486L	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	486					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L486L(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGTCAACAGAGAGGACAGGGA	0.473																																																2	Substitution - coding silent(2)	kidney(2)											113	124	121					12																	77424037		2203	4300	6503	SO:0001819	synonymous_variant	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1458C>A	12.37:g.77424037G>T			A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	CCDS9016.1																																																																																				0.473	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		T	77424037	G	T	77424037	2	4	550	1	0	0	0	0	0	0	0	1	4874	929	33	4		4	E2F7	12	77424037	Silent	SNP	G	TCGA-CJ-5684-01A-11D-1534-10	71332929	77424037	56427858	36	29629											
TESC	54997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117477015	117477015	+	Splice_Site	SNP	T	T	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr12:117477015T>A	ENST00000335209.7	-	8	754	c.568A>T	c.(568-570)Atc>Ttc	p.I190F	TESC_ENST00000392545.4_Splice_Site_p.I243F|TESC_ENST00000541210.1_Splice_Site_p.I163F			Q96BS2	CHP3_HUMAN	tescalcin	190					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)	p.I243F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CCCTGCCAGATCTGGAAGGGA	0.642																																																1	Substitution - Missense(1)	kidney(1)											84	94	90					12																	117477015		2203	4299	6502	SO:0001630	splice_region_variant	54997			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"EF-hand domain containing"	26065	protein-coding gene	gene with protein product	"calcineurin-like EF hand protein 3"	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.568-1A>T	12.37:g.117477015T>A			F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	37	CCDS9183.3	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593982	0.66219	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210;ENST00000549210	T;T;T	0.54479	0.57;0.57;1.23	5.93	5.93	0.95920	EF-hand-like domain (1);	5.160780	0.00166	N	0.000000	T	0.54481	0.1861	L	0.50333	1.59	0.58432	D	0.999997	P	0.44946	0.846	B	0.36186	0.219	T	0.52472	-0.8571	10	0.66056	D	0.02	-37.8532	15.3655	0.74519	0.0:0.0:0.0:1.0	.	190	Q96BS2	TESC_HUMAN	F	190;243;163;57	ENSP00000334785:I190F;ENSP00000376328:I243F;ENSP00000445689:I163F	ENSP00000334785:I190F	I	-	1	0	TESC	115961398	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.405000	0.52630	2.271000	0.75665	0.459000	0.35465	ATC		0.642	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899	Missense_Mutation	A	117477015	T	A	117477015	5	1	550	1	0	0	0	0	0	0	1	0	15771	1449	50	5	80	5	TESC	12	117477015	Splice_Site	SNP	T	TCGA-CJ-5684-01A-11D-1534-10	40052978	117477015	16374880	37	29630											
LATS2	26524	hgsc.bcm.edu;ucsc.edu	37	13	21557772	21557773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr13:21557772_21557773insT	ENST00000382592.4	-	5	2477_2478	c.2072_2073insA	c.(2071-2073)cacfs	p.H691fs	LATS2_ENST00000542899.1_Frame_Shift_Ins_p.H691fs	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGTACAGGGCGTGAGTGTCCAC	0.535																																																0																																										SO:0001589	frameshift_variant	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2073dupA	13.37:g.21557773_21557773dupT	ENSP00000372035:p.His691fs			Frame_Shift_Ins	INS	ENST00000382592.4	37	CCDS9294.1																																																																																				0.535	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			T	21557773	-	T	21557772	7	5	550	1	0	1	1	0	0	0	0	0	8649	1136	40	0	1209	0	LATS2	13	21557772	Frame_Shift_Ins	INS	-	TCGA-CJ-5684-01A-11D-1534-10		21557772	93612106	38	29631											
PABPC3	5042	hgsc.bcm.edu	37	13	25671786	25671786	+	Missense_Mutation	SNP	G	G	A	rs113301206	byFrequency	TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr13:25671786G>A	ENST00000281589.3	+	1	1487	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	484					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AACACAGACAGTGGGTCCACG	0.537													g|||	617	0.123203	0.1876	0.1081	5008	,	,		22365	0.0655		0.0666	False		,,,				2504	0.1646															0													64	58	60					13																	25671786		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1450G>A	13.37:g.25671786G>A	ENSP00000281589:p.Val484Met		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	4.651	0.121106	0.08881	.	.	ENSG00000151846	ENST00000281589	T	0.26957	1.7	0.875	-0.771	0.11002	.	0.098881	0.40908	N	0.000987	T	0.04363	0.0120	N	0.00197	-1.87	0.23421	N	0.997711	B	0.02656	0.0	B	0.09377	0.004	T	0.38243	-0.9670	10	0.30854	T	0.27	.	4.3022	0.10930	0.7031:0.0:0.2969:0.0	.	484	Q9H361	PABP3_HUMAN	M	484	ENSP00000281589:V484M	ENSP00000281589:V484M	V	+	1	0	PABPC3	24569786	0.402000	0.25311	0.468000	0.27192	0.114000	0.19823	0.521000	0.22893	-0.307000	0.08804	0.313000	0.20887	GTG		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671786	G	A	25671786	3	1	550	1	0	0	0	0	1	0	0	0	11367	1029	36	2	1452	2	PABPC3	13	25671786	Missense_Mutation	SNP	G	TCGA-CJ-5684-01A-11D-1534-10	4114014	25671786	89498092	39	29632											
MYCBP2	23077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	77785318	77785318	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr13:77785318A>G	ENST00000544440.2	-	23	3303	c.3286T>C	c.(3286-3288)Tat>Cat	p.Y1096H	MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y1096H|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.Y1134H					MYC binding protein 2, E3 ubiquitin protein ligase									p.Y1096H(2)|p.Y1134H(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTACATCATATACAGGATCA	0.323																																																3	Substitution - Missense(3)	kidney(3)											83	77	79					13																	77785318		2203	4299	6502	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3286T>C	13.37:g.77785318A>G	ENSP00000444596:p.Tyr1096His			Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	A	16.27	3.076215	0.55646	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.36340	1.27;1.26;1.27	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	T	0.23492	0.0568	N	0.20574	0.59	0.51482	D	0.999928	B	0.06786	0.001	B	0.08055	0.003	T	0.05451	-1.0884	10	0.38643	T	0.18	.	10.076	0.42360	0.9245:0.0:0.0755:0.0	.	1096	O75592	MYCB2_HUMAN	H	1096;1134;1096	ENSP00000349892:Y1096H;ENSP00000384288:Y1134H;ENSP00000444596:Y1096H	ENSP00000349892:Y1096H	Y	-	1	0	MYCBP2	76683319	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	7.068000	0.76748	2.151000	0.67156	0.383000	0.25322	TAT		0.323	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77785318	A	G	77785318	3	3	550	1	0	0	0	0	1	0	0	0	10020	449	16	3	10880	3	MYCBP2	13	77785318	Missense_Mutation	SNP	A	TCGA-CJ-5684-01A-11D-1534-10	52113532	77785318	37384560	40	29633											
COCH	1690	hgsc.bcm.edu	37	14	31358882	31358883	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr14:31358882_31358883insT	ENST00000396618.3	+	12	1594_1595	c.1538_1539insT	c.(1537-1542)gcttctfs	p.S514fs	COCH_ENST00000382493.4_Frame_Shift_Ins_p.S365fs|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000475087.1_Intron|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Frame_Shift_Ins_p.S514fs|COCH_ENST00000460581.2_Frame_Shift_Ins_p.S402fs	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	514	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AAAGATATGGCTTCTAAACCGA	0.396																																																0																																										SO:0001589	frameshift_variant	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1540dupT	14.37:g.31358884_31358884dupT	ENSP00000379862:p.Ser514fs		A8K9K9|D3DS84|Q96IU6	Frame_Shift_Ins	INS	ENST00000396618.3	37	CCDS9640.1																																																																																				0.396	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		T	31358883	-	T	31358882	7	5	550	1	0	1	1	0	0	0	0	0	3658	797	28	0	1580	0	COCH	14	31358882	Frame_Shift_Ins	INS	-	TCGA-CJ-5684-01A-11D-1534-10		31358882	75990658	41	29634											
SERPINA4	5267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	95029883	95029883	+	Silent	SNP	C	C	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr14:95029883C>T	ENST00000557004.1	+	2	485	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.L22L|SERPINA4_ENST00000555095.1_Silent_p.L22L			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	22					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L22L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCATGGCCAGCTGCACGTTGA	0.562																																																1	Substitution - coding silent(1)	kidney(1)											77	75	76					14																	95029883		2203	4300	6503	SO:0001819	synonymous_variant	5267			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.64C>T	14.37:g.95029883C>T			Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	CCDS9927.1																																																																																				0.562	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		T	95029883	C	T	95029883	2	4	550	1	0	0	0	0	0	0	0	1	14097	796	28	2		2	SERPINA4	14	95029883	Silent	SNP	C	TCGA-CJ-5684-01A-11D-1534-10	63671001	95029883	12319657	42	29635											
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7667223	7667223	+	Missense_Mutation	SNP	C	C	T	rs559459258		TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr17:7667223C>T	ENST00000572933.1	+	19	4513	c.3053C>T	c.(3052-3054)tCg>tTg	p.S1018L	DNAH2_ENST00000389173.2_Missense_Mutation_p.S1018L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1018	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1018L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGACTGTTCGCACCTCAAG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20782	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											118	102	108					17																	7667223		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3053C>T	17.37:g.7667223C>T	ENSP00000458355:p.Ser1018Leu		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402290	0.62288	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.46819	0.86	4.57	4.57	0.56435	.	0.327444	0.25283	N	0.031781	T	0.45337	0.1337	M	0.75447	2.3	0.80722	D	1	P	0.36974	0.576	B	0.31869	0.137	T	0.49153	-0.8969	10	0.38643	T	0.18	.	12.1091	0.53830	0.0:0.8261:0.1739:0.0	.	1018	Q9P225	DYH2_HUMAN	L	1018	ENSP00000373825:S1018L	ENSP00000353818:S1018L	S	+	2	0	DNAH2	7607948	0.999000	0.42202	0.947000	0.38551	0.985000	0.73830	5.115000	0.64655	2.075000	0.62263	0.555000	0.69702	TCG		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7667223	C	T	7667223	3	4	550	1	0	0	0	0	1	0	0	0	4604	893	31	1	3123	1	DNAH2	17	7667223	Missense_Mutation	SNP	C	TCGA-CJ-5684-01A-11D-1534-10		7667223	73527987	43	29636											
PIP4K2B	8396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36935738	36935738	+	Silent	SNP	C	C	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr17:36935738C>A	ENST00000269554.3	-	5	1032	c.552G>T	c.(550-552)ctG>ctT	p.L184L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	184	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.L184L(3)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGTACATGCCCAGGAACTGTG	0.517																																																3	Substitution - coding silent(3)	lung(2)|kidney(1)											144	103	117					17																	36935738		2203	4300	6503	SO:0001819	synonymous_variant	8396			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.552G>T	17.37:g.36935738C>A			Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	CCDS11329.1																																																																																				0.517	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		A	36935738	C	A	36935738	2	1	550	1	0	0	0	0	0	0	0	1	11939	581	21	4		4	PIP4K2B	17	36935738	Silent	SNP	C	TCGA-CJ-5684-01A-11D-1534-10	29268515	36935738	44259472	44	29637											
WBP2	23558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73851365	73851365	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr17:73851365T>A	ENST00000591399.1	-	2	438	c.14A>T	c.(13-15)aAg>aTg	p.K5M	WBP2_ENST00000254806.3_Missense_Mutation_p.K5M|WBP2_ENST00000433525.2_Missense_Mutation_p.K5M|WBP2_ENST00000344296.4_De_novo_Start_InFrame|WBP2_ENST00000585462.1_De_novo_Start_OutOfFrame|WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000590221.1_Missense_Mutation_p.K5M			Q969T9	WBP2_HUMAN	WW domain binding protein 2	5	GRAM.				cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)	p.K5M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGAGTGATTCTTGTTGAGCGC	0.562																																																1	Substitution - Missense(1)	kidney(1)											141	143	142					17																	73851365		2203	4300	6503	SO:0001583	missense	23558			U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.14A>T	17.37:g.73851365T>A	ENSP00000467579:p.Lys5Met		O95638	Missense_Mutation	SNP	ENST00000591399.1	37	CCDS11731.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287238	0.80803	.	.	ENSG00000132471	ENST00000254806;ENST00000433525;ENST00000431190;ENST00000416574	T;D	0.88277	1.3;-2.36	4.21	3.13	0.36017	GRAM (1);	0.153419	0.56097	D	0.000021	D	0.88127	0.6353	L	0.39898	1.24	0.80722	D	1	D;P;P;P	0.57571	0.98;0.921;0.921;0.921	P;P;P;P	0.60345	0.873;0.671;0.671;0.671	D	0.86528	0.1820	10	0.52906	T	0.07	-11.9478	5.5684	0.17182	0.0:0.2939:0.0:0.7061	.	5;5;5;5	B4DV07;B4DFG2;Q7Z511;Q969T9	.;.;.;WBP2_HUMAN	M	5	ENSP00000254806:K5M;ENSP00000415251:K5M	ENSP00000254806:K5M	K	-	2	0	WBP2	71362960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.886000	0.39688	1.891000	0.54761	0.460000	0.39030	AAG		0.562	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448862.1	NM_012478		A	73851365	T	A	73851365	3	1	550	1	0	0	0	0	1	0	0	0	17264	1609	56	5	803	5	WBP2	17	73851365	Missense_Mutation	SNP	T	TCGA-CJ-5684-01A-11D-1534-10	36915627	73851365	7343845	45	29638											
ASXL3	80816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	31320355	31320355	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr18:31320355C>A	ENST00000269197.5	+	11	2987	c.2987C>A	c.(2986-2988)cCa>cAa	p.P996Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	996					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P703Q(1)|p.P996Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTAGCAGCCCACCTGAGAAA	0.443																																																2	Substitution - Missense(2)	kidney(2)											33	33	33					18																	31320355		1852	4088	5940	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2987C>A	18.37:g.31320355C>A	ENSP00000269197:p.Pro996Gln		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	7.562	0.664996	0.14710	.	.	ENSG00000141431	ENST00000269197	T	0.56103	0.48	5.93	5.05	0.67936	.	0.181679	0.38326	N	0.001728	T	0.30916	0.0780	N	0.03608	-0.345	0.21822	N	0.999522	B	0.13594	0.008	B	0.06405	0.002	T	0.23190	-1.0195	10	0.46703	T	0.11	.	14.0051	0.64459	0.2903:0.7097:0.0:0.0	.	996	Q9C0F0	ASXL3_HUMAN	Q	996	ENSP00000269197:P996Q	ENSP00000269197:P996Q	P	+	2	0	ASXL3	29574353	0.784000	0.28713	0.922000	0.36590	0.404000	0.30871	1.837000	0.39201	1.470000	0.48102	0.655000	0.94253	CCA		0.443	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			A	31320355	C	A	31320355	3	1	550	1	0	0	0	0	1	0	0	0	1068	594	21	4	3029	4	ASXL3	18	31320355	Missense_Mutation	SNP	C	TCGA-CJ-5684-01A-11D-1534-10		31320355	46756893	46	29639											
ELAC1	55520	broad.mit.edu;ucsc.edu	37	18	48510776	48510776	+	Silent	SNP	C	C	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr18:48510776C>A	ENST00000269466.3	+	3	575	c.468C>A	c.(466-468)atC>atA	p.I156I	RP11-729L2.2_ENST00000588256.1_Intron|ELAC1_ENST00000591429.1_Silent_p.I156I|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	156					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)	p.I156I(1)		kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		GAAGAACTATCCTGTTAGACT	0.398																																																1	Substitution - coding silent(1)	kidney(1)											80	75	77					18																	48510776		2203	4300	6503	SO:0001819	synonymous_variant	55520			AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"tRNA Z (short form)", "RNaseZ(S)"	608079	"elaC (E. coli) homolog 1", "elaC homolog 1 (E. coli)"			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.468C>A	18.37:g.48510776C>A			Q9NS99	Silent	SNP	ENST00000269466.3	37	CCDS11949.1																																																																																				0.398	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2			A	48510776	C	A	48510776	2	1	550	1	0	0	0	0	0	0	0	1	5048	845	30	4		4	ELAC1	18	48510776	Silent	SNP	C	TCGA-CJ-5684-01A-11D-1534-10	17190421	48510776	29566472	47	29640											
CCDC155	147872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49912528	49912528	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr19:49912528G>C	ENST00000447857.3	+	14	1339	c.1134G>C	c.(1132-1134)gaG>gaC	p.E378D		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	378						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E378D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TGGAGATCGAGGCCATTCGAC	0.602																																																1	Substitution - Missense(1)	kidney(1)											46	50	48					19																	49912528		2003	4168	6171	SO:0001583	missense	147872				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1134G>C	19.37:g.49912528G>C	ENSP00000404220:p.Glu378Asp		Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374342	0.42105	.	.	ENSG00000161609	ENST00000447857	T	0.34275	1.37	5.38	-0.205	0.13196	.	1.260350	0.05317	N	0.525946	T	0.33498	0.0865	M	0.62723	1.935	0.09310	N	0.999997	B;B	0.33238	0.403;0.403	B;B	0.25291	0.059;0.059	T	0.30475	-0.9977	10	0.48119	T	0.1	-16.6983	8.2631	0.31797	0.3872:0.0:0.6128:0.0	.	378;378	C9JGW3;Q8N6L0	.;CC155_HUMAN	D	378	ENSP00000404220:E378D	ENSP00000404220:E378D	E	+	3	2	CCDC155	54604340	0.972000	0.33761	0.050000	0.19076	0.816000	0.46133	0.764000	0.26532	-0.086000	0.12550	0.585000	0.79938	GAG		0.602	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		C	49912528	G	C	49912528	3	2	550	1	0	0	0	0	1	0	0	0	2790	991	35	4	1184	4	CCDC155	19	49912528	Missense_Mutation	SNP	G	TCGA-CJ-5684-01A-11D-1534-10		49912528	9216455	48	29641											
PEX26	55670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	18566476	18566476	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr22:18566476G>C	ENST00000329627.7	+	4	851	c.645G>C	c.(643-645)gaG>gaC	p.E215D	PEX26_ENST00000399744.3_Missense_Mutation_p.E215D|PEX26_ENST00000428061.2_Missense_Mutation_p.E215D	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	215					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.E215D(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GCTCTGAGGAGGCCCAGAAGC	0.567																																																1	Substitution - Missense(1)	kidney(1)											74	70	71					22																	18566476		2203	4300	6503	SO:0001583	missense	55670			AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"peroxisome biogenesis factor 26"			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.645G>C	22.37:g.18566476G>C	ENSP00000331106:p.Glu215Asp		F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Missense_Mutation	SNP	ENST00000329627.7	37	CCDS13750.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530590	0.64860	.	.	ENSG00000215193	ENST00000329627;ENST00000399744;ENST00000428061;ENST00000399746	D;D;D	0.95853	-3.83;-3.83;-3.83	5.18	1.59	0.23543	.	0.728570	0.12078	U	0.501528	D	0.94437	0.8210	M	0.68317	2.08	0.09310	N	0.999998	P;P	0.43392	0.787;0.805	B;P	0.45753	0.23;0.492	D	0.87100	0.2178	10	0.37606	T	0.19	-5.23	10.0502	0.42210	0.0:0.2761:0.5816:0.1424	.	215;215	F6UBB5;Q7Z412	.;PEX26_HUMAN	D	215	ENSP00000331106:E215D;ENSP00000382648:E215D;ENSP00000412441:E215D	ENSP00000331106:E215D	E	+	3	2	PEX26	16946476	0.941000	0.31946	0.387000	0.26183	0.607000	0.37147	1.734000	0.38166	0.639000	0.30564	0.555000	0.69702	GAG		0.567	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929		C	18566476	G	C	18566476	3	2	550	1	0	0	0	0	1	0	0	0	11748	991	35	4	655	4	PEX26	22	18566476	Missense_Mutation	SNP	G	TCGA-CJ-5684-01A-11D-1534-10		18566476	32738090	49	29642											
SCUBE1	80274	broad.mit.edu;hgsc.bcm.edu	37	22	43614319	43614319	+	Silent	SNP	C	C	T			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chr22:43614319C>T	ENST00000360835.4	-	15	1959	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	611					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.K611K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTCCAGCGCCTTGGCTGGCC	0.632																																																1	Substitution - coding silent(1)	kidney(1)											93	93	93					22																	43614319		2203	4300	6503	SO:0001819	synonymous_variant	80274				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1833G>A	22.37:g.43614319C>T			Q5R336	Silent	SNP	ENST00000360835.4	37	CCDS14048.1																																																																																				0.632	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		T	43614319	C	T	43614319	2	4	550	1	0	0	0	0	0	0	0	1	13950	680	24	2		2	SCUBE1	22	43614319	Silent	SNP	C	TCGA-CJ-5684-01A-11D-1534-10	25047843	43614319	7690247	50	29643											
IL9R	3581	broad.mit.edu	37	X	155233148	155233148	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5684-01A-11D-1534-10	TCGA-CJ-5684-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ee4b71-c2e0-44c3-aaeb-3c488cd26ce7	81ad0b3a-02ce-44e3-b84d-fd03c7792bcb	g.chrX:155233148C>A	ENST00000244174.5	+	3	356	c.177C>A	c.(175-177)aaC>aaA	p.N59K	IL9R_ENST00000369423.2_Missense_Mutation_p.N106K|IL9R_ENST00000424344.3_Missense_Mutation_p.N38K|IL9R_ENST00000540897.1_Missense_Mutation_p.N96K	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	59					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.N59K(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCTCACCAACAACATTCTCA	0.607																																																1	Substitution - Missense(1)	kidney(1)											116	120	118					X																	155233148		2203	4296	6499	SO:0001583	missense	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.177C>A	X.37:g.155233148C>A	ENSP00000244174:p.Asn59Lys		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	16.99	3.273116	0.59649	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	1.29	1.29	0.21616	.	0.068863	0.56097	D	0.000029	T	0.63988	0.2558	.	.	.	0.09310	N	1	P;D;D	0.67145	0.933;0.976;0.996	P;P;D	0.75484	0.557;0.629;0.986	T	0.50074	-0.8870	9	0.72032	D	0.01	-20.6157	5.5447	0.17057	0.0:1.0:0.0:0.0	.	38;59;106	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	K	59;38;38;106;96	ENSP00000244174:N59K;ENSP00000388918:N38K;ENSP00000358431:N106K;ENSP00000438112:N96K	ENSP00000244174:N59K	N	+	3	2	IL9R	154886342	0.997000	0.39634	0.973000	0.42090	0.734000	0.41952	0.831000	0.27476	0.932000	0.37266	0.287000	0.19450	AAC		0.607	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		A	155233148	C	A	155233148	3	1	550	1	0	0	0	0	1	0	0	0	7710	477	17	4	187	4	IL9R	23	155233148	Missense_Mutation	SNP	C	TCGA-CJ-5684-01A-11D-1534-10		155233148	37412	51	29644											
VPS13D	55187	broad.mit.edu;ucsc.edu	37	1	12321995	12321995	+	Silent	SNP	G	G	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr1:12321995G>T	ENST00000358136.3	+	13	1582	c.1452G>T	c.(1450-1452)tcG>tcT	p.S484S	VPS13D_ENST00000356315.4_Silent_p.S484S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.S484S(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGATGCCTCGTGTATGAACA	0.438																																																1	Substitution - coding silent(1)	kidney(1)											157	139	145					1																	12321995		2203	4300	6503	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1452G>T	1.37:g.12321995G>T				Silent	SNP	ENST00000358136.3	37	CCDS30588.1																																																																																				0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		T	12321995	G	T	12321995	2	4	551	1	0	0	0	0	0	0	0	1	17197	1132	40	4		4	VPS13D	1	12321995	Silent	SNP	G	TCGA-CJ-5686-01A-11D-1669-08		12321995	236928626	1	29645											
HECTD3	79654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	45473182	45473182	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr1:45473182C>A	ENST00000372172.4	-	10	1477	c.1406G>T	c.(1405-1407)aGc>aTc	p.S469I	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Missense_Mutation_p.S79I	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	469					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S79I(1)|p.S185I(1)|p.S469I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TGGCATGAAGCTGGGCTTGCT	0.607																																																3	Substitution - Missense(3)	kidney(3)											82	87	85					1																	45473182		2136	4233	6369	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1406G>T	1.37:g.45473182C>A	ENSP00000361245:p.Ser469Ile		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533237	0.64972	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.60548	0.18;0.42	5.19	5.19	0.71726	.	0.147828	0.64402	D	0.000012	T	0.37376	0.1001	N	0.19112	0.55	0.39948	D	0.974503	P;P	0.39964	0.697;0.603	B;B	0.39258	0.276;0.295	T	0.21314	-1.0249	10	0.22706	T	0.39	.	6.2149	0.20649	0.0:0.785:0.0:0.215	.	469;79	Q5T447;Q5T447-2	HECD3_HUMAN;.	I	469;79	ENSP00000361245:S469I;ENSP00000361241:S79I	ENSP00000361241:S79I	S	-	2	0	HECTD3	45245769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.412000	0.59787	2.686000	0.91538	0.655000	0.94253	AGC		0.607	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		A	45473182	C	A	45473182	3	1	551	1	0	0	0	0	1	0	0	0	7043	797	28	4	1227	4	HECTD3	1	45473182	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	33151187	45473182	203777439	2	29646											
CENPF	1063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214818891	214818891	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr1:214818891C>G	ENST00000366955.3	+	13	6146	c.5978C>G	c.(5977-5979)tCt>tGt	p.S1993C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2089					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.S1993C(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGCTTGAGTCTCATCAAAGT	0.443																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - Missense(1)	kidney(1)											74	77	76					1																	214818891		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5978C>G	1.37:g.214818891C>G	ENSP00000355922:p.Ser1993Cys		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	7.316	0.615893	0.14129	.	.	ENSG00000117724	ENST00000366955	T	0.48201	0.82	5.23	2.31	0.28768	.	0.685575	0.12094	N	0.500170	T	0.45875	0.1364	M	0.65975	2.015	0.09310	N	1	D	0.57571	0.98	P	0.46975	0.533	T	0.38607	-0.9653	10	0.48119	T	0.1	.	2.7827	0.05365	0.1282:0.5404:0.1244:0.207	.	2089	P49454	CENPF_HUMAN	C	1993	ENSP00000355922:S1993C	ENSP00000355922:S1993C	S	+	2	0	CENPF	212885514	0.792000	0.28813	0.007000	0.13788	0.014000	0.08584	0.332000	0.19751	0.209000	0.20645	0.609000	0.83330	TCT		0.443	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		G	214818891	C	G	214818891	3	3	551	1	0	0	0	0	1	0	0	0	3233	913	32	4	6024	4	CENPF	1	214818891	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	169345709	214818891	34431730	3	29647											
ASAP2	8853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	9531296	9531296	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr2:9531296C>T	ENST00000281419.3	+	23	2829	c.2489C>T	c.(2488-2490)cCg>cTg	p.P830L	ASAP2_ENST00000491413.1_Intron|ASAP2_ENST00000315273.4_Intron	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	830	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.P830L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GTCCATCCACCGCTGCCCCCT	0.562																																																1	Substitution - Missense(1)	kidney(1)											173	168	170					2																	9531296		2203	4300	6503	SO:0001583	missense	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2489C>T	2.37:g.9531296C>T	ENSP00000281419:p.Pro830Leu		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384893	0.82792	.	.	ENSG00000151693	ENST00000281419	T	0.59224	0.28	4.49	4.49	0.54785	.	0.520793	0.22942	N	0.053775	T	0.68476	0.3005	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66101	-0.6007	10	0.34782	T	0.22	.	17.7309	0.88377	0.0:1.0:0.0:0.0	.	830	O43150	ASAP2_HUMAN	L	830	ENSP00000281419:P830L	ENSP00000281419:P830L	P	+	2	0	ASAP2	9448747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.470000	0.66756	2.504000	0.84457	0.460000	0.39030	CCG		0.562	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		T	9531296	C	T	9531296	3	4	551	1	0	0	0	0	1	0	0	0	1011	652	23	1	2579	1	ASAP2	2	9531296	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08		9531296	233668077	4	29648											
EMILIN1	11117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27306232	27306232	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr2:27306232G>C	ENST00000380320.4	+	4	2292	c.1793G>C	c.(1792-1794)gGt>gCt	p.G598A		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	598					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.G598A(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCGGGATGGTGTGGAGCGC	0.706																																																1	Substitution - Missense(1)	kidney(1)											33	39	37					2																	27306232		2182	4282	6464	SO:0001583	missense	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1793G>C	2.37:g.27306232G>C	ENSP00000369677:p.Gly598Ala		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871452	0.51695	.	.	ENSG00000138080	ENST00000380320	T	0.62364	0.03	4.73	4.73	0.59995	.	0.086450	0.46758	D	0.000264	T	0.52092	0.1713	N	0.14661	0.345	0.34953	D	0.751391	D	0.55172	0.97	P	0.51833	0.681	T	0.57004	-0.7885	10	0.18710	T	0.47	-12.5524	13.0709	0.59061	0.0:0.0:1.0:0.0	.	598	Q9Y6C2	EMIL1_HUMAN	A	598	ENSP00000369677:G598A	ENSP00000369677:G598A	G	+	2	0	EMILIN1	27159736	0.967000	0.33354	0.996000	0.52242	0.998000	0.95712	2.322000	0.43814	2.456000	0.83038	0.561000	0.74099	GGT		0.706	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		C	27306232	G	C	27306232	3	2	551	1	0	0	0	0	1	0	0	0	5095	1261	44	4	1807	4	EMILIN1	2	27306232	Missense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	17774936	27306232	215893141	5	29649											
GPR45	11250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	105859391	105859391	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr2:105859391C>A	ENST00000258456.1	+	1	1192	c.1076C>A	c.(1075-1077)cCa>cAa	p.P359Q		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	359						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P359Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AGAATCCAGCCAAGCACAGTC	0.567																																																1	Substitution - Missense(1)	kidney(1)											72	74	73					2																	105859391		2203	4300	6503	SO:0001583	missense	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.1076C>A	2.37:g.105859391C>A	ENSP00000258456:p.Pro359Gln		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140564	0.77775	.	.	ENSG00000135973	ENST00000258456	T	0.72282	-0.64	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83019	-0.0168	10	0.87932	D	0	-16.6649	17.2936	0.87163	0.0:1.0:0.0:0.0	.	359	Q9Y5Y3	GPR45_HUMAN	Q	359	ENSP00000258456:P359Q	ENSP00000258456:P359Q	P	+	2	0	GPR45	105225823	1.000000	0.71417	0.969000	0.41365	0.990000	0.78478	7.239000	0.78182	2.696000	0.92011	0.456000	0.33151	CCA		0.567	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		A	105859391	C	A	105859391	3	1	551	1	0	0	0	0	1	0	0	0	6698	594	21	4	1078	4	GPR45	2	105859391	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	78553159	105859391	137339982	6	29650											
RGPD4	285190	broad.mit.edu	37	2	108489172	108489172	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr2:108489172G>C	ENST00000408999.3	+	20	4789	c.4712G>C	c.(4711-4713)gGa>gCa	p.G1571A	RGPD4_ENST00000354986.4_Missense_Mutation_p.G1571A	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1571					protein targeting to Golgi (GO:0000042)			p.G1571A(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTTTGTTTGGATTTAGTTTT	0.348																																																1	Substitution - Missense(1)	kidney(1)											97	82	87					2																	108489172		692	1591	2283	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4712G>C	2.37:g.108489172G>C	ENSP00000386810:p.Gly1571Ala		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	8.357	0.832189	0.16820	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.50277	0.75;0.76	2.33	2.33	0.28932	.	.	.	.	.	T	0.56217	0.1970	M	0.66939	2.045	0.29405	N	0.86167	D	0.60160	0.987	P	0.53006	0.715	T	0.56214	-0.8016	9	0.66056	D	0.02	-28.2303	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1571	Q7Z3J3	RGPD4_HUMAN	A	1571	ENSP00000347081:G1571A;ENSP00000386810:G1571A	ENSP00000347081:G1571A	G	+	2	0	RGPD4	107855604	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	7.559000	0.82265	1.303000	0.44873	0.162000	0.16502	GGA		0.348	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		C	108489172	G	C	108489172	3	2	551	1	0	0	0	0	1	0	0	0	13294	1174	41	4	4790	4	RGPD4	2	108489172	Missense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	2629781	108489172	134710201	7	29651											
OSBPL6	114880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179203777	179203777	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr2:179203777A>G	ENST00000190611.4	+	10	1226	c.850A>G	c.(850-852)Ata>Gta	p.I284V	OSBPL6_ENST00000409631.1_Missense_Mutation_p.I284V|OSBPL6_ENST00000392505.2_Missense_Mutation_p.I284V|OSBPL6_ENST00000359685.3_Missense_Mutation_p.I284V|OSBPL6_ENST00000409045.3_Missense_Mutation_p.I284V|OSBPL6_ENST00000315022.2_Missense_Mutation_p.I263V|OSBPL6_ENST00000357080.4_Missense_Mutation_p.I284V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	284					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.I284V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AAATTTGGAAATACTTCAGAG	0.353																																																2	Substitution - Missense(2)	kidney(2)											78	77	77					2																	179203777		2203	4300	6503	SO:0001583	missense	114880			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.850A>G	2.37:g.179203777A>G	ENSP00000190611:p.Ile284Val		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	A	6.102	0.387113	0.11581	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000361154;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.10960	2.85;2.86;2.82;2.83;2.82;2.86;2.83	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.05364	0.0142	N	0.10733	0.035	0.53688	D	0.999971	B;P;B;B;B;B	0.35242	0.001;0.492;0.015;0.343;0.198;0.383	B;B;B;B;B;B	0.32583	0.007;0.148;0.025;0.148;0.047;0.106	T	0.51317	-0.8721	10	0.15499	T	0.54	-15.0261	11.3163	0.49394	0.8643:0.0:0.0:0.1357	.	284;263;284;284;284;284	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	V	284;284;69;284;284;284;284;263	ENSP00000376293:I284V;ENSP00000352713:I284V;ENSP00000349591:I284V;ENSP00000387248:I284V;ENSP00000190611:I284V;ENSP00000386885:I284V;ENSP00000318723:I263V	ENSP00000190611:I284V	I	+	1	0	OSBPL6	178912023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.982000	0.76173	2.224000	0.72417	0.528000	0.53228	ATA		0.353	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		G	179203777	A	G	179203777	3	3	551	1	0	0	0	0	1	0	0	0	11283	101	4	3	923	3	OSBPL6	2	179203777	Missense_Mutation	SNP	A	TCGA-CJ-5686-01A-11D-1669-08	70714605	179203777	63995596	8	29652											
CDK15	65061	broad.mit.edu;hgsc.bcm.edu	37	2	202700487	202700487	+	Splice_Site	SNP	G	G	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr2:202700487G>T	ENST00000374598.4	+	8	851		c.e8+1		CDK15_ENST00000488419.1_Splice_Site|CDK15_ENST00000410091.3_Splice_Site|CDK15_ENST00000450471.2_Splice_Site|CDK15_ENST00000434439.1_Splice_Site|CDK15_ENST00000260967.2_Splice_Site			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)	p.?(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TGGACATATGGTAAGAGTGGT	0.443																																																1	Unknown(1)	kidney(1)											69	68	69					2																	202700487		2203	4300	6503	SO:0001630	splice_region_variant	65061			AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"Cyclin-dependent kinases"	14434	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7", "PFTAIRE protein kinase 2"	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.851+1G>T	2.37:g.202700487G>T			A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Splice_Site	SNP	ENST00000374598.4	37		.	.	.	.	.	.	.	.	.	.	G	28.6	4.934154	0.92458	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.02	0.97489	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK15	202408732	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.653000	0.98506	2.809000	0.96659	0.557000	0.71058	.		0.443	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2		Intron	T	202700487	G	T	202700487	5	4	551	1	0	0	0	0	0	0	1	0	3133	1275	44	4	725	4	CDK15	2	202700487	Splice_Site	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	23496710	202700487	40498886	9	29653											
SPHKAP	80309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228882779	228882779	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr2:228882779C>A	ENST00000392056.3	-	7	2837	c.2791G>T	c.(2791-2793)Gaa>Taa	p.E931*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E931*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	931	PKA-RII subunit binding domain. {ECO:0000250}.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.E931K(2)|p.E931*(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTAATTCTTCCGCAAAGTCT	0.473																																																4	Substitution - Missense(2)|Substitution - Nonsense(2)	kidney(4)											189	171	177					2																	228882779		2203	4300	6503	SO:0001587	stop_gained	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2791G>T	2.37:g.228882779C>A	ENSP00000375909:p.Glu931*		Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	38	7.002497	0.97994	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	6.08	6.08	0.98989	.	0.092028	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	.	.	.	X	931	.	ENSP00000339886:E931X	E	-	1	0	SPHKAP	228591023	1.000000	0.71417	0.980000	0.43619	0.402000	0.30811	7.194000	0.77789	2.894000	0.99253	0.655000	0.94253	GAA		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		A	228882779	C	A	228882779	4	1	551	1	0	0	0	0	0	1	0	0	15053	864	30	4	2335	4	SPHKAP	2	228882779	Nonsense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	26182292	228882779	14316594	10	29654											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191520	10191520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr3:10191520delG	ENST00000256474.2	+	3	1353	c.513delG	c.(511-513)aagfs	p.K171fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.K130fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	171					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.K171N(2)|p.V170fs*29(1)|p.P172_E173del(1)|p.K171fs*43(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCCTAGTCAAGCCTGAGAATT	0.522		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	5	Substitution - Missense(2)|Deletion - Frameshift(2)|Deletion - In frame(1)	kidney(5)											93	84	87					3																	10191520		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.513delG	3.37:g.10191520delG	ENSP00000256474:p.Lys171fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.522	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191520	G	-	10191520	7	5	551	1	0	1	0	1	0	0	0	0	17167	962	34	0	523	0	VHL	3	10191520	Frame_Shift_Del	DEL	G	TCGA-CJ-5686-01A-11D-1669-08		10191520	187830910	11	29655											
ATG7	10533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	11354777	11354777	+	Splice_Site	SNP	G	G	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr3:11354777G>T	ENST00000354449.3	+	6	436		c.e6-1		ATG7_ENST00000354956.5_Splice_Site|ATG7_ENST00000446450.2_Intron	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTTTTTTCTAGGATCTAAAGA	0.368																																																1	Unknown(1)	kidney(1)											100	98	98					3																	11354777		2203	4300	6503	SO:0001630	splice_region_variant	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.412-1G>T	3.37:g.11354777G>T			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Splice_Site	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869986	0.72065	.	.	ENSG00000197548	ENST00000451513;ENST00000354956;ENST00000354449	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.189	0.86874	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATG7	11329777	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.088000	0.89523	2.793000	0.96121	0.563000	0.77884	.		0.368	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395	Intron	T	11354777	G	T	11354777	5	4	551	1	0	0	0	0	0	0	1	0	1101	1014	35	4	429	4	ATG7	3	11354777	Splice_Site	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	1163257	11354777	186667653	12	29656											
C3orf58	205428	broad.mit.edu	37	3	143691275	143691275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr3:143691275C>A	ENST00000315691.3	+	1	636	c.101C>A	c.(100-102)tCg>tAg	p.S34*	C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	34					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.S34*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTCGCCGTCGCTGCTCGCC	0.692																																																1	Substitution - Nonsense(1)	kidney(1)											9	10	10					3																	143691275		2180	4273	6453	SO:0001587	stop_gained	205428			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.101C>A	3.37:g.143691275C>A	ENSP00000320081:p.Ser34*		B2RCF2|B7Z1W3	Nonsense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	C	42	9.466290	0.99178	.	.	ENSG00000181744	ENST00000315691	.	.	.	3.89	3.89	0.44902	.	0.200072	0.42420	D	0.000703	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-18.5612	16.0803	0.81001	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000320081:S34X	S	+	2	0	C3orf58	145173965	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.564000	0.60830	2.027000	0.59764	0.561000	0.74099	TCG		0.692	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		A	143691275	C	A	143691275	4	1	551	1	0	0	0	0	0	1	0	0	2238	893	31	4	103	4	C3orf58	3	143691275	Nonsense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	132336498	143691275	54331155	13	29657											
IGSF10	285313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	151154637	151154637	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr3:151154637G>A	ENST00000282466.3	-	6	7711	c.7712C>T	c.(7711-7713)tCa>tTa	p.S2571L	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2571	Ig-like C2-type 12.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.S2571L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTTGCCGTTGAGAGAAGGGA	0.507																																																1	Substitution - Missense(1)	kidney(1)											87	79	81					3																	151154637		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7712C>T	3.37:g.151154637G>A	ENSP00000282466:p.Ser2571Leu		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231120	0.39399	.	.	ENSG00000152580	ENST00000282466	T	0.69926	-0.44	4.95	4.95	0.65309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38720	N	0.001599	T	0.72277	0.3440	L	0.28740	0.885	0.51233	D	0.999916	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.956	T	0.71981	-0.4428	10	0.40728	T	0.16	.	14.987	0.71356	0.0:0.0:0.857:0.143	.	2571;598	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	L	2571	ENSP00000282466:S2571L	ENSP00000282466:S2571L	S	-	2	0	IGSF10	152637327	1.000000	0.71417	0.102000	0.21198	0.004000	0.04260	7.315000	0.78998	2.442000	0.82660	0.655000	0.94253	TCA		0.507	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		A	151154637	G	A	151154637	3	1	551	1	0	0	0	0	1	0	0	0	7599	1294	45	2	163	2	IGSF10	3	151154637	Missense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	7463362	151154637	46867793	14	29658											
KIAA1530	57654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1348531	1348531	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr4:1348531A>C	ENST00000389851.4	+	6	1390	c.943A>C	c.(943-945)Aag>Cag	p.K315Q	UVSSA_ENST00000507531.1_Missense_Mutation_p.K315Q|UVSSA_ENST00000511216.1_Missense_Mutation_p.K315Q|AC078852.1_ENST00000504748.1_RNA	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	315					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)	p.K315Q(1)									AGAGGGCCTGAAGGTGCAGGA	0.622																																																1	Substitution - Missense(1)	kidney(1)											74	64	68					4																	1348531		2201	4297	6498	SO:0001583	missense	0			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.943A>C	4.37:g.1348531A>C	ENSP00000374501:p.Lys315Gln		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	A	8.128	0.782408	0.16189	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.32023	1.47;1.47;1.47	4.83	1.2	0.21068	.	0.378458	0.31233	N	0.008011	T	0.23289	0.0563	L	0.39245	1.2	0.80722	D	1	B	0.27380	0.177	B	0.20384	0.029	T	0.04915	-1.0918	10	0.31617	T	0.26	.	13.7747	0.63046	0.5409:0.4591:0.0:0.0	.	315	Q2YD98	K1530_HUMAN	Q	315	ENSP00000425130:K315Q;ENSP00000374501:K315Q;ENSP00000421741:K315Q	ENSP00000374501:K315Q	K	+	1	0	KIAA1530	1338531	0.998000	0.40836	0.315000	0.25238	0.261000	0.26267	1.613000	0.36900	0.025000	0.15241	0.379000	0.24179	AAG		0.622	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		C	1348531	A	C	1348531	3	2	551	1	0	0	0	0	1	0	0	0	8243	247	9	5	961	5	KIAA1530	4	1348531	Missense_Mutation	SNP	A	TCGA-CJ-5686-01A-11D-1669-08		1348531	189805745	15	29659											
GRSF1	2926	broad.mit.edu	37	4	71690078	71690078	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr4:71690078C>G	ENST00000254799.6	-	9	1518	c.1401G>C	c.(1399-1401)agG>agC	p.R467S	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.R349S|GRSF1_ENST00000439371.1_Missense_Mutation_p.R305S|GRSF1_ENST00000502323.1_Missense_Mutation_p.R305S	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	467	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R467S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GTTCAATATACCTATGATCTG	0.353																																																1	Substitution - Missense(1)	kidney(1)											73	65	68					4																	71690078		1814	4066	5880	SO:0001583	missense	2926			BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"RNA binding motif (RRM) containing"	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1401G>C	4.37:g.71690078C>G	ENSP00000254799:p.Arg467Ser		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.21|17.21	3.331130|3.331130	0.60853|0.60853	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000514161|ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	.|T;T;T;T;T	.|0.11930	.|2.73;2.73;2.73;2.73;2.73	6.05|6.05	0.286|0.286	0.15710|0.15710	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.093461	.|0.64402	.|D	.|0.000001	T|T	0.28632|0.28632	0.0709|0.0709	M|M	0.81239|0.81239	2.535|2.535	0.43574|0.43574	D|D	0.995908|0.995908	.|D;D	.|0.69078	.|0.997;0.988	.|D;D	.|0.79784	.|0.993;0.954	T|T	0.07385|0.07385	-1.0775|-1.0775	5|10	.|0.72032	.|D	.|0.01	-8.2403|-8.2403	1.0969|1.0969	0.01675|0.01675	0.2323:0.2913:0.1034:0.373|0.2323:0.2913:0.1034:0.373	.|.	.|380;467	.|B7Z5F9;Q12849	.|.;GRSF1_HUMAN	A|S	404|467;305;399;440;305;349	.|ENSP00000254799:R467S;ENSP00000389219:R305S;ENSP00000427354:R440S;ENSP00000425430:R305S;ENSP00000443380:R349S	.|ENSP00000254799:R467S	G|R	-|-	2|3	0|2	GRSF1|GRSF1	71908942|71908942	0.970000|0.970000	0.33590|0.33590	0.988000|0.988000	0.46212|0.46212	0.929000|0.929000	0.56500|0.56500	0.027000|0.027000	0.13621|0.13621	-0.273000|-0.273000	0.09246|0.09246	-0.300000|-0.300000	0.09419|0.09419	GGT|AGG		0.353	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		G	71690078	C	G	71690078	3	3	551	1	0	0	0	0	1	0	0	0	6811	506	18	4	45	4	GRSF1	4	71690078	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	70341547	71690078	119464198	16	29660											
THBS4	7060	hgsc.bcm.edu	37	5	79351734	79351734	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr5:79351734C>T	ENST00000350881.2	+	3	609	c.419C>T	c.(418-420)tCc>tTc	p.S140F	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.S49F	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	140	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.S140F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGGGCCGGCTCCCTAGAGCTC	0.582																																																1	Substitution - Missense(1)	kidney(1)											75	81	79					5																	79351734		2203	4300	6503	SO:0001583	missense	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.419C>T	5.37:g.79351734C>T	ENSP00000339730:p.Ser140Phe		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	C	9.899	1.206285	0.22205	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	T;T	0.02280	4.36;4.36	5.84	5.84	0.93424	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.174186	0.51477	D	0.000083	T	0.03095	0.0091	L	0.28115	0.83	0.35855	D	0.827082	P	0.45283	0.855	P	0.44732	0.459	T	0.63019	-0.6730	9	.	.	.	-21.7724	15.3735	0.74587	0.1401:0.8599:0.0:0.0	.	140	P35443	TSP4_HUMAN	F	140;49	ENSP00000339730:S140F;ENSP00000422298:S49F	.	S	+	2	0	THBS4	79387490	0.982000	0.34865	0.905000	0.35620	0.046000	0.14306	2.370000	0.44240	2.758000	0.94735	0.591000	0.81541	TCC		0.582	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			T	79351734	C	T	79351734	3	4	551	1	0	0	0	0	1	0	0	0	15861	855	30	2	429	2	THBS4	5	79351734	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08		79351734	101563526	17	29661											
WNT8A	7478	hgsc.bcm.edu	37	5	137426309	137426309	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr5:137426309C>A	ENST00000398754.1	+	6	608	c.603C>A	c.(601-603)ttC>ttA	p.F201L	WNT8A_ENST00000506684.1_Missense_Mutation_p.F219L	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	201					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGCTGAATTCCGGGAGATGG	0.537																																																0													45	45	45					5																	137426309		1937	4145	6082	SO:0001583	missense	7478			AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"Wingless-type MMTV integration sites"	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.603C>A	5.37:g.137426309C>A	ENSP00000381739:p.Phe201Leu		Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277773	0.80692	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.79454	-1.27;-1.27;-1.27	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.87728	0.6250	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.89065	0.3465	10	0.87932	D	0	.	13.6469	0.62288	0.0:0.9233:0.0:0.0767	.	219;219;201	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	L	219;219;201	ENSP00000426653:F219L;ENSP00000424809:F219L;ENSP00000381739:F201L	ENSP00000354726:F201L	F	+	3	2	WNT8A	137454208	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.589000	0.36644	2.537000	0.85549	0.557000	0.71058	TTC		0.537	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		A	137426309	C	A	137426309	3	1	551	1	0	0	0	0	1	0	0	0	17401	854	30	4	625	4	WNT8A	5	137426309	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	58074575	137426309	43488951	18	29662											
DBN1	1627	broad.mit.edu;hgsc.bcm.edu	37	5	176894482	176894482	+	Splice_Site	SNP	C	C	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr5:176894482C>G	ENST00000309007.5	-	5	696	c.477G>C	c.(475-477)gtG>gtC	p.V159V	DBN1_ENST00000292385.5_Splice_Site_p.V161V|DBN1_ENST00000393565.1_Splice_Site_p.V159V	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	159					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.V159V(1)|p.V161V(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACACTAACCACGGGCTCTG	0.672																																																2	Substitution - coding silent(2)	kidney(2)											22	23	22					5																	176894482		2199	4296	6495	SO:0001630	splice_region_variant	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.477+1G>C	5.37:g.176894482C>G			A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	37	CCDS4420.1																																																																																				0.672	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881	Silent	G	176894482	C	G	176894482	5	3	551	1	0	0	0	0	0	0	1	0	4254	608	21	4	1512	4	DBN1	5	176894482	Splice_Site	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	39468173	176894482	4020778	19	29663											
TAP2	5696	broad.mit.edu;hgsc.bcm.edu	37	6	32805899	32805899	+	IGR	SNP	G	G	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr6:32805899G>A	ENST00000374882.3	-	0	1124				TAP2_ENST00000374899.4_Silent_p.L38L|TAP2_ENST00000452392.2_Silent_p.L38L|TAP2_ENST00000374897.2_Silent_p.L38L	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						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)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|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)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.L38L(2)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TCCAGCCATAGTCCTGGCAGC	0.637																																					NSCLC(48;53 1172 10859 13624 22883)											2	Substitution - coding silent(2)	kidney(2)											45	50	48					6																	32805899		1508	2708	4216	SO:0001628	intergenic_variant	6891				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32805899G>A			B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	ENST00000374882.3	37	CCDS4757.1																																																																																				0.637	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		A	32805899	G	A	32805899	1	1	551	0	1	0	0	0	0	0	0	0	15556	1020	36	2		2	TAP2	6	32805899	IGR	SNP	G	TCGA-CJ-5686-01A-11D-1669-08		32805899	138309168	20	29664											
DNAH8	1769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	38952015	38952015	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr6:38952015G>A	ENST00000359357.3	+	85	12588	c.12334G>A	c.(12334-12336)Gga>Aga	p.G4112R	DNAH8_ENST00000441566.1_Missense_Mutation_p.G4076R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4112					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G4112R(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTACATGATCGGAGAAGTACA	0.348																																																2	Substitution - Missense(2)	kidney(2)											138	133	134					6																	38952015		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12334G>A	6.37:g.38952015G>A	ENSP00000352312:p.Gly4112Arg		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	30	5.057867	0.93846	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.14516	2.5;2.5;2.5	6.02	6.02	0.97574	Dynein heavy chain (1);	0.062472	0.64402	D	0.000007	T	0.57154	0.2034	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.76683	-0.2869	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	4076;4112	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	R	4317;4112;4076	ENSP00000333363:G4317R;ENSP00000352312:G4112R;ENSP00000402294:G4076R	ENSP00000333363:G4317R	G	+	1	0	DNAH8	39059993	1.000000	0.71417	0.993000	0.49108	0.843000	0.47879	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GGA		0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		A	38952015	G	A	38952015	3	1	551	1	0	0	0	0	1	0	0	0	4609	1117	39	1	12664	1	DNAH8	6	38952015	Missense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	6146116	38952015	132163052	21	29665											
ZNF318	24149	hgsc.bcm.edu;ucsc.edu	37	6	43307260	43307261	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr6:43307260_43307261insC	ENST00000361428.2	-	10	4552_4553	c.4475_4476insG	c.(4474-4476)ggtfs	p.G1492fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1492	Pro-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAATGTTAGGACCCACGAAGCC	0.535																																																0																																										SO:0001589	frameshift_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4476dupG	6.37:g.43307263_43307263dupC	ENSP00000354964:p.Gly1492fs		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Ins	INS	ENST00000361428.2	37	CCDS4895.2																																																																																				0.535	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		C	43307261	-	C	43307260	7	5	551	1	0	1	1	0	0	0	0	0	17841	262	10	0	2367	0	ZNF318	6	43307260	Frame_Shift_Ins	INS	-	TCGA-CJ-5686-01A-11D-1669-08	4355245	43307260	127807807	22	29666											
TDRD6	221400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46657639	46657639	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr6:46657639C>G	ENST00000316081.6	+	1	1774	c.1774C>G	c.(1774-1776)Cag>Gag	p.Q592E	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.Q592E|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	592	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.Q592E(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCAGTTTAGGCAGCTACCAAT	0.448																																																1	Substitution - Missense(1)	kidney(1)											112	107	109					6																	46657639		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1774C>G	6.37:g.46657639C>G	ENSP00000346065:p.Gln592Glu		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.091618	0.00364	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.08807	3.05;3.05	6.02	3.26	0.37387	Tudor subgroup (1);Maternal tudor protein (1);	1.007200	0.07955	N	0.981482	T	0.01254	0.0041	N	0.16098	0.37	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.005;0.009	T	0.44892	-0.9298	10	0.06757	T	0.87	-15.0336	9.3675	0.38234	0.3338:0.4181:0.2481:0.0	.	592;592	F5H5M3;O60522	.;TDRD6_HUMAN	E	592	ENSP00000443299:Q592E;ENSP00000346065:Q592E	ENSP00000346065:Q592E	Q	+	1	0	TDRD6	46765598	0.329000	0.24696	0.066000	0.19879	0.238000	0.25445	0.983000	0.29552	0.424000	0.26061	-0.953000	0.02652	CAG		0.448	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		G	46657639	C	G	46657639	3	3	551	1	0	0	0	0	1	0	0	0	15739	711	25	4	1776	4	TDRD6	6	46657639	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	3350379	46657639	124457428	23	29667											
RAB23	51715	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	57075110	57075110	+	Silent	SNP	T	T	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr6:57075110T>A	ENST00000317483.3	-	2	688	c.69A>T	c.(67-69)tcA>tcT	p.S23S	RAB23_ENST00000468148.1_Silent_p.S23S	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	23					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S23S(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAATCATACTTGATTTTCCAA	0.393																																																1	Substitution - coding silent(1)	kidney(1)											233	212	219					6																	57075110		2203	4300	6503	SO:0001819	synonymous_variant	51715			AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"RAB, member RAS oncogene"	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.69A>T	6.37:g.57075110T>A			B2R9I5|Q68DJ6|Q8NI06|Q9P023	Silent	SNP	ENST00000317483.3	37	CCDS4962.1																																																																																				0.393	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1			A	57075110	T	A	57075110	2	1	551	1	0	0	0	0	0	0	0	1	12916	1799	63	5		5	RAB23	6	57075110	Silent	SNP	T	TCGA-CJ-5686-01A-11D-1669-08	10417471	57075110	114039957	24	29668											
EEF1A1	1915	broad.mit.edu	37	6	74228230	74228230	+	Silent	SNP	G	G	T	rs200820708		TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr6:74228230G>T	ENST00000316292.9	-	5	1867	c.876C>A	c.(874-876)gtC>gtA	p.V292V	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Silent_p.V292V|EEF1A1_ENST00000331523.2_Silent_p.V292V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	292					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)	p.V292V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GGTGCATTTCGACAGATTTTA	0.488											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - coding silent(1)	kidney(1)											34	33	33					6																	74228230		2006	4167	6173	SO:0001819	synonymous_variant	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.876C>A	6.37:g.74228230G>T		1151	P04719|P04720|Q6IQ15	Silent	SNP	ENST00000316292.9	37	CCDS4980.1																																																																																				0.488	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		T	74228230	G	T	74228230	2	4	551	1	0	0	0	0	0	0	0	1	4925	1045	37	4		4	EEF1A1	6	74228230	Silent	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	17153120	74228230	96886837	25	29669											
SLC35A1	10559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	88210341	88210341	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr6:88210341A>G	ENST00000369552.4	+	3	337	c.310A>G	c.(310-312)Atg>Gtg	p.M104V	SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369556.3_Missense_Mutation_p.M104V|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000544441.1_Intron|SLC35A1_ENST00000369557.5_Missense_Mutation_p.M104V	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	104					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)	p.M104V(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCAGAACAACATGGCTTTCCT	0.403																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)											1	Substitution - Missense(1)	kidney(1)											112	99	104					6																	88210341		2203	4300	6503	SO:0001583	missense	10559			D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"Solute carriers"	11021	protein-coding gene	gene with protein product		605634	"solute carrier family 35 (UDP-galactose transporter), member 1"			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.310A>G	6.37:g.88210341A>G	ENSP00000358565:p.Met104Val		Q5W1L8	Missense_Mutation	SNP	ENST00000369552.4	37	CCDS5010.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370208	0.82573	.	.	ENSG00000164414	ENST00000369556;ENST00000369552;ENST00000429605;ENST00000369557;ENST00000369544	T;T;T	0.40225	1.04;1.04;1.04	5.63	5.63	0.86233	.	0.000000	0.85682	U	0.000000	T	0.27313	0.0670	N	0.21240	0.645	0.80722	D	1	P;P	0.45240	0.854;0.594	P;B	0.46144	0.505;0.312	T	0.14062	-1.0486	10	0.72032	D	0.01	-27.8238	16.1359	0.81487	1.0:0.0:0.0:0.0	.	104;104	P78382;Q5W1L8	S35A1_HUMAN;.	V	104;104;104;104;85	ENSP00000358569:M104V;ENSP00000358565:M104V;ENSP00000358570:M104V	ENSP00000358557:M85V	M	+	1	0	SLC35A1	88267060	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.910000	0.92685	2.276000	0.75962	0.454000	0.30748	ATG		0.403	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041446.1			G	88210341	A	G	88210341	3	3	551	1	0	0	0	0	1	0	0	0	14576	217	8	3	320	3	SLC35A1	6	88210341	Missense_Mutation	SNP	A	TCGA-CJ-5686-01A-11D-1669-08	13982111	88210341	82904726	26	29670											
TSPYL1	7259	hgsc.bcm.edu;ucsc.edu	37	6	116600703	116600703	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr6:116600703delC	ENST00000368608.3	-	1	363	c.291delG	c.(289-291)gggfs	p.G97fs	DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	97					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CCTCTTCCTGCCCGGCTTTGA	0.672																																																0													27	32	30					6																	116600703		2202	4298	6500	SO:0001589	frameshift_variant	7259			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.291delG	6.37:g.116600703delC	ENSP00000357597:p.Gly97fs		O75885|Q5TFE6	Frame_Shift_Del	DEL	ENST00000368608.3	37	CCDS34518.1																																																																																				0.672	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			-	116600703	C	-	116600703	7	5	551	1	0	1	0	1	0	0	0	0	16664	726	26	0	1026	0	TSPYL1	6	116600703	Frame_Shift_Del	DEL	C	TCGA-CJ-5686-01A-11D-1669-08	28390362	116600703	54514364	27	29671											
ANKMY2	57037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	16655424	16655424	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr7:16655424T>C	ENST00000306999.2	-	5	719	c.476A>G	c.(475-477)aAg>aGg	p.K159R		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	159						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.K159R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GCCTGCCAACTTTGGGGGCAG	0.428																																																1	Substitution - Missense(1)	kidney(1)											97	95	96					7																	16655424		2203	4300	6503	SO:0001583	missense	57037			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.476A>G	7.37:g.16655424T>C	ENSP00000303570:p.Lys159Arg		A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667121	0.47677	.	.	ENSG00000106524	ENST00000306999	T	0.72051	-0.62	5.73	5.73	0.89815	.	0.082451	0.85682	D	0.000000	T	0.68742	0.3034	M	0.65975	2.015	0.58432	D	0.999998	B	0.16166	0.016	B	0.14023	0.01	T	0.64183	-0.6467	10	0.20519	T	0.43	-11.3991	16.3349	0.83056	0.0:0.0:0.0:1.0	.	159	Q8IV38	ANKY2_HUMAN	R	159	ENSP00000303570:K159R	ENSP00000303570:K159R	K	-	2	0	ANKMY2	16621949	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.864000	0.69575	2.324000	0.78689	0.533000	0.62120	AAG		0.428	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		C	16655424	T	C	16655424	3	2	551	1	0	0	0	0	1	0	0	0	635	1609	56	3	873	3	ANKMY2	7	16655424	Missense_Mutation	SNP	T	TCGA-CJ-5686-01A-11D-1669-08		16655424	142483239	28	29672											
HERPUD2	64224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	35673462	35673462	+	Splice_Site	SNP	C	C	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr7:35673462C>T	ENST00000396081.1	-	8	1864		c.e8-1		HERPUD2_ENST00000426180.1_5'Flank|HERPUD2_ENST00000311350.3_Splice_Site	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2						response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.?(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TAAGACGCTCCTTTCAAGCAA	0.403																																																1	Unknown(1)	kidney(1)											166	155	159					7																	35673462		2203	4300	6503	SO:0001630	splice_region_variant	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.1060-1G>A	7.37:g.35673462C>T			A4D1Y8|Q9H6F9	Splice_Site	SNP	ENST00000396081.1	37	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534458	0.85812	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7161	0.96121	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERPUD2	35639987	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.625000	0.83145	2.656000	0.90262	0.551000	0.68910	.		0.403	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	Intron	T	35673462	C	T	35673462	5	4	551	1	0	0	0	0	0	0	1	0	7066	695	24	2	165	2	HERPUD2	7	35673462	Splice_Site	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	19018038	35673462	123465201	29	29673											
INHBA	3624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	41729694	41729694	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr7:41729694C>A	ENST00000242208.4	-	3	1081	c.835G>T	c.(835-837)Gca>Tca	p.A279S	INHBA_ENST00000442711.1_Missense_Mutation_p.A279S|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	279					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.A279S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						tctgctcctgccccaccttca	0.607										TSP Lung(11;0.080)																																						1	Substitution - Missense(1)	kidney(1)											59	57	57					7																	41729694		2203	4300	6503	SO:0001583	missense	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.835G>T	7.37:g.41729694C>A	ENSP00000242208:p.Ala279Ser		Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	3.398	-0.122907	0.06795	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.77489	-1.1;-1.1	5.67	2.74	0.32292	Transforming growth factor-beta, N-terminal (1);	1.526900	0.03612	N	0.234970	T	0.50803	0.1637	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46610	-0.9179	10	0.22109	T	0.4	.	1.7663	0.03002	0.152:0.4424:0.2277:0.1779	.	279	P08476	INHBA_HUMAN	S	279	ENSP00000242208:A279S;ENSP00000397197:A279S	ENSP00000242208:A279S	A	-	1	0	INHBA	41696219	0.000000	0.05858	0.001000	0.08648	0.396000	0.30629	0.107000	0.15375	0.632000	0.30432	0.585000	0.79938	GCA		0.607	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			A	41729694	C	A	41729694	3	1	551	1	0	0	0	0	1	0	0	0	7743	739	26	4	449	4	INHBA	7	41729694	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	6056232	41729694	117408969	30	29674											
PILRB	29990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99956460	99956460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr7:99956460G>A	ENST00000452089.1	+	7	1271	c.212G>A	c.(211-213)tGg>tAg	p.W71*	PILRB_ENST00000609309.1_Nonsense_Mutation_p.W71*|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000610247.1_Nonsense_Mutation_p.W71*|PILRB_ENST00000444073.1_Nonsense_Mutation_p.W71*|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	71	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)		p.W71*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAATATCCTGGAGACGGGGC	0.537																																																1	Substitution - Nonsense(1)	kidney(1)											86	87	87					7																	99956460		2203	4300	6503	SO:0001587	stop_gained	29990			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"Immunoglobulin superfamily / V-set domain containing"	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.212G>A	7.37:g.99956460G>A	ENSP00000391748:p.Trp71*		Q69YF9|Q9HBS0	Nonsense_Mutation	SNP	ENST00000452089.1	37	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563423	0.65651	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	.	.	.	2.48	1.53	0.23141	.	0.182579	0.27266	N	0.020149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7437	0.23451	0.0:0.0:0.7195:0.2805	.	.	.	.	X	71;71;71;71;71;71;71;71;176;71	.	.	W	+	2	0	PILRB	99794396	0.985000	0.35326	0.254000	0.24359	0.163000	0.22366	0.860000	0.27871	0.280000	0.22209	0.536000	0.68110	TGG		0.537	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		A	99956460	G	A	99956460	4	1	551	1	0	0	0	0	0	1	0	0	11928	1357	47	2	218	2	PILRB	7	99956460	Nonsense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	58226766	99956460	59182203	31	29675											
RHEB	6009	broad.mit.edu;hgsc.bcm.edu	37	7	151181869	151181869	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr7:151181869A>T	ENST00000262187.5	-	3	558	c.146T>A	c.(145-147)gTa>gAa	p.V49E	RHEB_ENST00000496004.1_5'UTR|RHEB_ENST00000472642.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	49					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.V49E(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		TTGTCCATTTACTGTGATCAA	0.358																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)											1	Substitution - Missense(1)	kidney(1)											94	87	90					7																	151181869		2203	4300	6503	SO:0001583	missense	6009			D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"Ras homolog enriched in brain 2"	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.146T>A	7.37:g.151181869A>T	ENSP00000262187:p.Val49Glu		B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	37	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.577598	0.86645	.	.	ENSG00000106615	ENST00000262187	T	0.79352	-1.26	5.34	5.34	0.76211	Small GTP-binding protein domain (1);	0.138039	0.49305	D	0.000157	D	0.87811	0.6271	M	0.82323	2.585	0.80722	D	1	D	0.63880	0.993	D	0.69307	0.963	D	0.89552	0.3800	10	0.87932	D	0	.	13.2534	0.60064	1.0:0.0:0.0:0.0	.	49	Q15382	RHEB_HUMAN	E	49	ENSP00000262187:V49E	ENSP00000262187:V49E	V	-	2	0	RHEB	150812802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.229000	0.89791	2.025000	0.59659	0.477000	0.44152	GTA		0.358	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2	NM_005614		T	151181869	A	T	151181869	3	4	551	1	0	0	0	0	1	0	0	0	13334	391	14	5	432	5	RHEB	7	151181869	Missense_Mutation	SNP	A	TCGA-CJ-5686-01A-11D-1669-08	51225409	151181869	7956794	32	29676											
BMP1	649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	22034151	22034151	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr8:22034151A>G	ENST00000306385.5	+	4	1209	c.539A>G	c.(538-540)tAt>tGt	p.Y180C	BMP1_ENST00000354870.5_Missense_Mutation_p.Y180C|BMP1_ENST00000397816.3_Missense_Mutation_p.Y180C|BMP1_ENST00000397814.3_Missense_Mutation_p.Y180C|BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.Y180C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	180	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.Y180C(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GTGTTCACCTATCGACCTTGC	0.627																																																2	Substitution - Missense(2)	kidney(2)											153	138	143					8																	22034151		2203	4300	6503	SO:0001583	missense	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.539A>G	8.37:g.22034151A>G	ENSP00000305714:p.Tyr180Cys		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263963	0.59431	.	.	ENSG00000168487	ENST00000306385;ENST00000354870;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	4.82	4.82	0.62117	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.35096	U	0.003457	T	0.74854	0.3771	M	0.69248	2.105	0.80722	D	1	D;D;D	0.76494	0.99;0.998;0.999	D;D;D	0.71184	0.936;0.965;0.972	T	0.75906	-0.3152	10	0.48119	T	0.1	.	12.3681	0.55240	1.0:0.0:0.0:0.0	.	180;180;180	P13497;P13497-2;P13497-6	BMP1_HUMAN;.;.	C	180	ENSP00000305714:Y180C;ENSP00000346941:Y180C;ENSP00000380917:Y180C;ENSP00000306121:Y180C;ENSP00000380915:Y180C	ENSP00000306121:Y180C	Y	+	2	0	BMP1	22090096	1.000000	0.71417	0.996000	0.52242	0.642000	0.38348	5.924000	0.70054	2.035000	0.60131	0.260000	0.18958	TAT		0.627	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		G	22034151	A	G	22034151	3	3	551	1	0	0	0	0	1	0	0	0	1456	449	16	3	553	3	BMP1	8	22034151	Missense_Mutation	SNP	A	TCGA-CJ-5686-01A-11D-1669-08		22034151	124329871	33	29677											
EXTL3	2137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28574199	28574199	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr8:28574199G>A	ENST00000220562.4	+	3	1525	c.623G>A	c.(622-624)aGc>aAc	p.S208N	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	208					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.S208N(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GTCTTTGGCAGCTACCTGGAT	0.512																																																1	Substitution - Missense(1)	kidney(1)											101	102	102					8																	28574199		2203	4300	6503	SO:0001583	missense	2137			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.623G>A	8.37:g.28574199G>A	ENSP00000220562:p.Ser208Asn		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	2.860	-0.236273	0.05944	.	.	ENSG00000012232	ENST00000220562	D	0.97791	-4.54	4.89	1.84	0.25277	.	0.566023	0.21370	N	0.075653	D	0.90442	0.7007	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.81185	-0.1048	9	.	.	.	-4.829	4.7746	0.13173	0.3494:0.1472:0.5034:0.0	.	208	O43909	EXTL3_HUMAN	N	208	ENSP00000220562:S208N	.	S	+	2	0	EXTL3	28630118	0.934000	0.31675	0.997000	0.53966	0.991000	0.79684	1.053000	0.30442	0.063000	0.16370	0.485000	0.47835	AGC		0.512	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		A	28574199	G	A	28574199	3	1	551	1	0	0	0	0	1	0	0	0	5329	971	34	2	625	2	EXTL3	8	28574199	Missense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	6540048	28574199	117789823	34	29678											
TMEM68	137695	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	56652730	56652730	+	Silent	SNP	T	T	C			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr8:56652730T>C	ENST00000434581.2	-	8	1135	c.936A>G	c.(934-936)ccA>ccG	p.P312P	TMEM68_ENST00000334667.2_Silent_p.P245P|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000519784.1_Silent_p.P131P			Q96MH6	TMM68_HUMAN	transmembrane protein 68	312						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)	p.P245P(1)		NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TAATGTTTCCTGGTATTCTTT	0.299																																																1	Substitution - coding silent(1)	kidney(1)											128	121	123					8																	56652730		2202	4298	6500	SO:0001819	synonymous_variant	137695			AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.936A>G	8.37:g.56652730T>C			Q658X6|Q8WUD2	Silent	SNP	ENST00000434581.2	37																																																																																					0.299	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		C	56652730	T	C	56652730	2	2	551	1	0	0	0	0	0	0	0	1	16202	1567	55	3		3	TMEM68	8	56652730	Silent	SNP	T	TCGA-CJ-5686-01A-11D-1669-08	28078531	56652730	89711292	35	29679											
C8orf34	116328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	69621309	69621309	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr8:69621309C>G	ENST00000539993.1	+	9	1613	c.1064C>G	c.(1063-1065)tCa>tGa	p.S355*	C8orf34_ENST00000325233.3_Nonsense_Mutation_p.S99*|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.S441*|C8orf34_ENST00000337103.4_Nonsense_Mutation_p.S330*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	355								p.S355*(1)|p.S330*(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATCCCAGATTCATTCGGTAAG	0.343																																																2	Substitution - Nonsense(2)	kidney(2)											69	66	67					8																	69621309		2203	4300	6503	SO:0001587	stop_gained	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1064C>G	8.37:g.69621309C>G	ENSP00000438159:p.Ser355*		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Nonsense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	C	40	8.269689	0.98735	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	.	.	.	5.2	4.32	0.51571	.	0.538688	0.18375	N	0.143154	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.5789	10.297	0.43629	0.0:0.9074:0.0:0.0926	.	.	.	.	X	441;355;330;99	.	.	S	+	2	0	C8orf34	69783863	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	2.083000	0.41615	1.315000	0.45114	0.655000	0.94253	TCA		0.343	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		G	69621309	C	G	69621309	4	3	551	1	0	0	0	0	0	1	0	0	2424	838	29	4	1019	4	C8orf34	8	69621309	Nonsense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	12968579	69621309	76742713	36	29680											
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106810965	106810965	+	Silent	SNP	T	T	C			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr8:106810965T>C	ENST00000407775.2	+	7	1003	c.753T>C	c.(751-753)ccT>ccC	p.P251P	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.P119P|ZFPM2_ENST00000378472.4_5'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.P119P|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	251					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P251P(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATATATTCCCTTGCAAGTCCT	0.468																																																1	Substitution - coding silent(1)	kidney(1)											89	82	84					8																	106810965		1972	4178	6150	SO:0001819	synonymous_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.753T>C	8.37:g.106810965T>C			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																				0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			C	106810965	T	C	106810965	2	2	551	1	0	0	0	0	0	0	0	1	17663	1596	56	3		3	ZFPM2	8	106810965	Silent	SNP	T	TCGA-CJ-5686-01A-11D-1669-08	37189656	106810965	39553057	37	29681											
C9orf84	158401	broad.mit.edu;hgsc.bcm.edu	37	9	114484858	114484858	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr9:114484858C>A	ENST00000318737.4	-	13	1898	c.1770G>T	c.(1768-1770)caG>caT	p.Q590H	C9orf84_ENST00000374287.3_Missense_Mutation_p.Q590H|C9orf84_ENST00000394777.4_Missense_Mutation_p.Q551H|C9orf84_ENST00000394779.3_Missense_Mutation_p.Q551H	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	590								p.Q551H(1)|p.Q590H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGCTTGGCACTGGCTATCTG	0.388																																																2	Substitution - Missense(2)	kidney(2)											84	82	83					9																	114484858		2203	4300	6503	SO:0001583	missense	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1770G>T	9.37:g.114484858C>A	ENSP00000322108:p.Gln590His		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515589	0.64634	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.14516	3.19;2.5;3.2;3.2	6.17	0.0372	0.14195	.	0.000000	0.56097	D	0.000037	T	0.22781	0.0550	L	0.34521	1.04	0.33351	D	0.571087	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.16453	-1.0402	10	0.72032	D	0.01	-7.472	11.6732	0.51415	0.0:0.5087:0.0:0.4913	.	551;590;551	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	H	551;551;204;590;590	ENSP00000378259:Q551H;ENSP00000378257:Q551H;ENSP00000363405:Q590H;ENSP00000322108:Q590H	ENSP00000322108:Q590H	Q	-	3	2	C9orf84	113524679	0.183000	0.23186	0.996000	0.52242	0.977000	0.68977	-0.939000	0.03933	-0.019000	0.14055	0.655000	0.94253	CAG		0.388	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		A	114484858	C	A	114484858	3	1	551	1	0	0	0	0	1	0	0	0	2502	564	20	4	2620	4	C9orf84	9	114484858	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08		114484858	26728573	38	29682											
SLC25A25	114789	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130865982	130865982	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr9:130865982T>A	ENST00000373064.5	+	5	772	c.509T>A	c.(508-510)cTa>cAa	p.L170Q	SLC25A25_ENST00000373066.5_Missense_Mutation_p.L202Q|SLC25A25_ENST00000433501.1_Missense_Mutation_p.L67Q|SLC25A25_ENST00000373069.5_Missense_Mutation_p.L216Q|SLC25A25_ENST00000432073.2_Missense_Mutation_p.L190Q|SLC25A25_ENST00000373068.2_Missense_Mutation_p.L204Q	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	170					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.L170Q(1)|p.L204Q(1)|p.L190Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GGTGAGAATCTAACGGTCCCG	0.597																																																3	Substitution - Missense(3)	kidney(3)											95	91	93					9																	130865982		2203	4300	6503	SO:0001583	missense	114789			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.509T>A	9.37:g.130865982T>A	ENSP00000362155:p.Leu170Gln		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341149	0.81911	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;D;T;T	0.82526	0.96;0.96;-1.35;-1.62;-1.34;-1.42	5.7	5.7	0.88788	.	0.171234	0.44902	D	0.000413	D	0.90287	0.6962	M	0.76727	2.345	0.80722	D	1	P;D;P;D	0.89917	0.863;0.987;0.866;1.0	P;D;D;D	0.74023	0.708;0.94;0.94;0.982	D	0.90614	0.4554	10	0.51188	T	0.08	-20.623	15.1577	0.72755	0.0:0.0:0.0:1.0	.	170;202;190;204	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	Q	204;216;190;202;170;67	ENSP00000362159:L204Q;ENSP00000362160:L216Q;ENSP00000410053:L190Q;ENSP00000362157:L202Q;ENSP00000362155:L170Q;ENSP00000401672:L67Q	ENSP00000362155:L170Q	L	+	2	0	SLC25A25	129905803	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	8.040000	0.89188	2.172000	0.68678	0.533000	0.62120	CTA		0.597	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		A	130865982	T	A	130865982	3	1	551	1	0	0	0	0	1	0	0	0	14494	1522	53	5	1015	5	SLC25A25	9	130865982	Missense_Mutation	SNP	T	TCGA-CJ-5686-01A-11D-1669-08	16381124	130865982	10347449	39	29683											
DDX31	64794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	135470291	135470291	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr9:135470291C>G	ENST00000372159.3	-	20	2669	c.2518G>C	c.(2518-2520)Ggt>Cgt	p.G840R	DDX31_ENST00000372153.1_Missense_Mutation_p.G767R|DDX31_ENST00000438527.3_Missense_Mutation_p.G711R	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	840						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.G840R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CGCTGTACACCTTTTTGGGTT	0.552																																																1	Substitution - Missense(1)	kidney(1)											114	127	123					9																	135470291		2203	4300	6503	SO:0001583	missense	64794			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2518G>C	9.37:g.135470291C>G	ENSP00000361232:p.Gly840Arg		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536088	0.27475	.	.	ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527	T;T;T	0.04809	4.08;3.55;4.21	3.59	1.72	0.24424	.	.	.	.	.	T	0.04452	0.0122	N	0.22421	0.69	0.09310	N	1	P;P	0.38195	0.527;0.622	B;B	0.41332	0.354;0.193	T	0.41822	-0.9487	9	0.52906	T	0.07	.	6.4692	0.21999	0.0:0.7635:0.0:0.2365	.	767;840	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	R	840;767;711	ENSP00000361232:G840R;ENSP00000361226:G767R;ENSP00000387730:G711R	ENSP00000361226:G767R	G	-	1	0	DDX31	134460112	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-0.455000	0.06762	0.226000	0.20979	0.462000	0.41574	GGT		0.552	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		G	135470291	C	G	135470291	3	3	551	1	0	0	0	0	1	0	0	0	4358	681	24	4	41	4	DDX31	9	135470291	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	4604309	135470291	5743140	40	29684											
SSNA1	8636	broad.mit.edu;hgsc.bcm.edu	37	9	140083619	140083619	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr9:140083619G>A	ENST00000322310.5	+	2	234	c.154G>A	c.(154-156)Gag>Aag	p.E52K	SSNA1_ENST00000459860.1_3'UTR|ANAPC2_ENST00000323927.2_5'Flank	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	52					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport (GO:0042073)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E52K(2)		breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		GCAGCTGACAGAGAAGCTGGC	0.627																																																2	Substitution - Missense(2)	breast(1)|kidney(1)											41	33	36					9																	140083619		2201	4299	6500	SO:0001583	missense	8636			Z96932	CCDS7034.1	9q34.3	2008-02-05	2007-10-04		ENSG00000176101	ENSG00000176101			11321	protein-coding gene	gene with protein product		610882	"Sjogren's syndrome nuclear autoantigen 1"			9430706	Standard	NM_003731		Approved	NA14, N14	uc004cls.2	O43805	OTTHUMG00000020982	ENST00000322310.5:c.154G>A	9.37:g.140083619G>A	ENSP00000313752:p.Glu52Lys		Q5VSG0|Q6FG70|Q9BVW8	Missense_Mutation	SNP	ENST00000322310.5	37	CCDS7034.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775002	0.70107	.	.	ENSG00000176101	ENST00000322310	D	0.83755	-1.76	4.07	4.07	0.47477	.	0.124068	0.53938	D	0.000050	T	0.78541	0.4299	M	0.65677	2.01	0.58432	D	0.999991	B	0.34103	0.437	B	0.26770	0.073	T	0.77485	-0.2570	10	0.27785	T	0.31	-27.7985	14.1028	0.65068	0.0:0.0:1.0:0.0	.	52	O43805	SSNA1_HUMAN	K	52	ENSP00000313752:E52K	ENSP00000313752:E52K	E	+	1	0	SSNA1	139203440	1.000000	0.71417	0.904000	0.35570	0.888000	0.51559	7.282000	0.78630	1.972000	0.57404	0.561000	0.74099	GAG		0.627	SSNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055311.1	NM_003731		A	140083619	G	A	140083619	3	1	551	1	0	0	0	0	1	0	0	0	15192	943	33	2	160	2	SSNA1	9	140083619	Missense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	4613328	140083619	1129812	41	29685											
CSRP3	8048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	19213960	19213960	+	Silent	SNP	G	G	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr11:19213960G>A	ENST00000533783.1	-	3	276	c.36C>T	c.(34-36)gcC>gcT	p.A12A	CSRP3_ENST00000265968.3_Silent_p.A12A	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	12	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)	p.A12A(1)		kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						TCTTTTCACAGGCTCCACATT	0.498																																																1	Substitution - coding silent(1)	kidney(1)											150	115	127					11																	19213960		2199	4293	6492	SO:0001819	synonymous_variant	8048			U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.36C>T	11.37:g.19213960G>A			Q9P131	Silent	SNP	ENST00000533783.1	37	CCDS7848.1																																																																																				0.498	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1	NM_003476		A	19213960	G	A	19213960	2	1	551	1	0	0	0	0	0	0	0	1	3971	987	35	2		2	CSRP3	11	19213960	Silent	SNP	G	TCGA-CJ-5686-01A-11D-1669-08		19213960	115792556	42	29686			1	48		2	2	14	G		2.939543e-05
CSRP3	8048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	19213973	19213973	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr11:19213973G>T	ENST00000533783.1	-	3	263	c.23C>A	c.(22-24)gCa>gAa	p.A8E	CSRP3_ENST00000265968.3_Missense_Mutation_p.A8E	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	8					cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)	p.A8E(1)		kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						TCCACATTTTGCGCCTCCGCC	0.493																																																1	Substitution - Missense(1)	kidney(1)											135	104	115					11																	19213973		2199	4293	6492	SO:0001583	missense	8048			U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.23C>A	11.37:g.19213973G>T	ENSP00000431813:p.Ala8Glu		Q9P131	Missense_Mutation	SNP	ENST00000533783.1	37	CCDS7848.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294498	0.23564	.	.	ENSG00000129170	ENST00000265968;ENST00000533783	T;T	0.63417	-0.04;-0.04	6.02	6.02	0.97574	Zinc finger, LIM-type (2);	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	N	0.02876	-0.465	0.80722	D	1	B	0.26512	0.151	B	0.28991	0.097	T	0.44682	-0.9312	10	0.02654	T	1	-7.4989	20.1323	0.98003	0.0:0.0:1.0:0.0	.	8	P50461	CSRP3_HUMAN	E	8	ENSP00000265968:A8E;ENSP00000431813:A8E	ENSP00000265968:A8E	A	-	2	0	CSRP3	19170549	1.000000	0.71417	0.937000	0.37676	0.432000	0.31715	9.751000	0.98889	2.857000	0.98124	0.650000	0.86243	GCA		0.493	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1	NM_003476		T	19213973	G	T	19213973	3	4	551	1	0	0	0	0	1	0	0	0	3971	1319	46	4	581	4	CSRP3	11	19213973	Missense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	13	19213973	115792543	43	29687			1	48		2	2	14	G		2.939543e-05
DAK	26007	hgsc.bcm.edu;ucsc.edu	37	11	61105442	61105442	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr11:61105442delT	ENST00000394900.3	+	3	262	c.33delT	c.(31-33)gctfs	p.A11fs	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	11	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						ACTCGGTGGCTGGCTGTGCTG	0.622																																																0													95	75	82					11																	61105442		2203	4299	6502	SO:0001589	frameshift_variant	26007				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.33delT	11.37:g.61105442delT	ENSP00000378360:p.Ala11fs		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Frame_Shift_Del	DEL	ENST00000394900.3	37	CCDS8003.1																																																																																				0.622	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		-	61105442	T	-	61105442	7	5	551	1	0	1	0	1	0	0	0	0	4230	1567	55	0	39	0	DAK	11	61105442	Frame_Shift_Del	DEL	T	TCGA-CJ-5686-01A-11D-1669-08	41891469	61105442	73901074	44	29688											
LRRN4CL	221091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62455461	62455461	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr11:62455461C>G	ENST00000317449.4	-	2	997	c.520G>C	c.(520-522)Ggg>Cgg	p.G174R		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	174	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)		p.G174R(1)		cervix(1)|kidney(1)	2						ATGTCGGCCCCCTCGAGGCCC	0.721																																																1	Substitution - Missense(1)	kidney(1)											14	17	16					11																	62455461		2173	4260	6433	SO:0001583	missense	221091			AK291334	CCDS8030.1	11q12.3	2013-02-11				ENSG00000177363		"Fibronectin type III domain containing"	33724	protein-coding gene	gene with protein product							Standard	NM_203422		Approved		uc001nun.3	Q8ND94		ENST00000317449.4:c.520G>C	11.37:g.62455461C>G	ENSP00000325808:p.Gly174Arg		A8K5L9	Missense_Mutation	SNP	ENST00000317449.4	37	CCDS8030.1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.027089	0.19512	.	.	ENSG00000177363	ENST00000317449	.	.	.	4.8	-2.54	0.06307	Fibronectin, type III (1);	1.624630	0.04488	U	0.378986	T	0.27559	0.0677	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26189	-1.0110	9	0.48119	T	0.1	-0.0429	5.9635	0.19313	0.0:0.2932:0.4377:0.2691	.	174	Q8ND94	LRN4L_HUMAN	R	174	.	ENSP00000325808:G174R	G	-	1	0	LRRN4CL	62212037	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.126000	0.15769	-0.463000	0.06973	-0.150000	0.13652	GGG		0.721	LRRN4CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395168.1	NM_203422		G	62455461	C	G	62455461	3	3	551	1	0	0	0	0	1	0	0	0	9040	623	22	4	200	4	LRRN4CL	11	62455461	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	1350019	62455461	72551055	45	29689											
CCDC82	79780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	96098194	96098194	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr11:96098194A>G	ENST00000278520.5	-	7	1758	c.1330T>C	c.(1330-1332)Tat>Cat	p.Y444H	CCDC82_ENST00000542662.1_Missense_Mutation_p.Y444H|CCDC82_ENST00000423339.2_Missense_Mutation_p.Y444H			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	444								p.Y444H(1)|p.Y444D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CTGGTGTTATACAACTCTCCT	0.328																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											99	98	98					11																	96098194		2201	4298	6499	SO:0001583	missense	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1330T>C	11.37:g.96098194A>G	ENSP00000278520:p.Tyr444His		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978155	0.74360	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.73258	-0.73;-0.73;-0.73	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000002	D	0.82300	0.5007	M	0.66939	2.045	0.47621	D	0.999474	D	0.89917	1.0	D	0.97110	1.0	D	0.84451	0.0588	10	0.87932	D	0	-17.4396	14.3662	0.66807	1.0:0.0:0.0:0.0	.	444	Q8N4S0	CCD82_HUMAN	H	444	ENSP00000278520:Y444H;ENSP00000444010:Y444H;ENSP00000397156:Y444H	ENSP00000278520:Y444H	Y	-	1	0	CCDC82	95737842	0.999000	0.42202	0.270000	0.24601	0.997000	0.91878	5.842000	0.69417	2.095000	0.63458	0.482000	0.46254	TAT		0.328	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		G	96098194	A	G	96098194	3	3	551	1	0	0	0	0	1	0	0	0	2858	391	14	3	316	3	CCDC82	11	96098194	Missense_Mutation	SNP	A	TCGA-CJ-5686-01A-11D-1669-08	33642733	96098194	38908322	46	29690											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108199913	108199913	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr11:108199913A>T	ENST00000452508.2	+	50	7444	c.7255A>T	c.(7255-7257)Aga>Tga	p.R2419*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Nonsense_Mutation_p.R2419*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2419	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R2419*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCTCCTGAAAAGAGCCAAAGA	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	2	Substitution - Nonsense(2)	kidney(2)											71	70	70					11																	108199913		2201	4298	6499	SO:0001587	stop_gained	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7255A>T	11.37:g.108199913A>T	ENSP00000388058:p.Arg2419*		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	49	15.200593	0.99826	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.54	4.39	0.52855	.	0.129398	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5666	0.56314	0.8609:0.1391:0.0:0.0	.	.	.	.	X	2419	.	ENSP00000278616:R2419X	R	+	1	2	ATM	107705123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.285000	0.72658	0.902000	0.36520	0.528000	0.53228	AGA		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108199913	A	T	108199913	4	4	551	1	0	0	0	0	0	1	0	0	1109	64	3	5	7445	5	ATM	11	108199913	Nonsense_Mutation	SNP	A	TCGA-CJ-5686-01A-11D-1669-08	12101719	108199913	26806603	47	29691											
RAPGEF3	10411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48143587	48143587	+	Silent	SNP	C	C	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr12:48143587C>T	ENST00000449771.2	-	9	919	c.831G>A	c.(829-831)ggG>ggA	p.G277G	RAPGEF3_ENST00000549151.1_Silent_p.G235G|RAPGEF3_ENST00000171000.4_Silent_p.G235G|RAPGEF3_ENST00000395358.3_Silent_p.G277G|RAPGEF3_ENST00000548919.1_Silent_p.G235G|RAPGEF3_ENST00000405493.2_Silent_p.G235G|RAPGEF3_ENST00000549347.1_5'Flank|RAPGEF3_ENST00000389212.3_Silent_p.G277G			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	277					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.G235G(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGCCCTTGTCCCCCTGGCTGA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											162	143	150					12																	48143587		2203	4300	6503	SO:0001819	synonymous_variant	10411			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.831G>A	12.37:g.48143587C>T			A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	ENST00000449771.2	37	CCDS41775.1																																																																																				0.602	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		T	48143587	C	T	48143587	2	4	551	1	0	0	0	0	0	0	0	1	13051	610	22	2		2	RAPGEF3	12	48143587	Silent	SNP	C	TCGA-CJ-5686-01A-11D-1669-08		48143587	85708308	48	29692											
AAAS	8086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53702266	53702266	+	Silent	SNP	C	C	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr12:53702266C>A	ENST00000209873.4	-	12	1299	c.1134G>T	c.(1132-1134)gtG>gtT	p.V378V	AAAS_ENST00000549983.1_5'Flank|AAAS_ENST00000550286.1_Silent_p.V254V|AAAS_ENST00000394384.3_Silent_p.V345V	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	378					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)		p.V378V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						ACAGATCTGCCACAATCGTTG	0.527																																																1	Substitution - coding silent(1)	kidney(1)											287	216	240					12																	53702266		2203	4300	6503	SO:0001819	synonymous_variant	8086			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.1134G>T	12.37:g.53702266C>A			Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	CCDS8856.1																																																																																				0.527	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			A	53702266	C	A	53702266	2	1	551	1	0	0	0	0	0	0	0	1	8	581	21	4		4	AAAS	12	53702266	Silent	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	5558679	53702266	80149629	49	29693											
FZD10	11211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	130648324	130648324	+	Silent	SNP	C	C	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr12:130648324C>T	ENST00000229030.4	+	1	1321	c.837C>T	c.(835-837)atC>atT	p.I279I	FZD10_ENST00000539839.1_Missense_Mutation_p.P247S|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	279					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I279I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCTACCTCATCCGCCTCTTCG	0.657																																																1	Substitution - coding silent(1)	kidney(1)											88	90	89					12																	130648324		2203	4300	6503	SO:0001819	synonymous_variant	11211			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.837C>T	12.37:g.130648324C>T				Silent	SNP	ENST00000229030.4	37	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	9.389	1.074964	0.20227	.	.	ENSG00000111432	ENST00000539839	.	.	.	4.96	3.08	0.35506	.	.	.	.	.	T	0.62332	0.2419	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61123	-0.7126	5	0.87932	D	0	.	6.2443	0.20807	0.1493:0.6962:0.0:0.1545	.	.	.	.	S	247	.	ENSP00000438460:P247S	P	+	1	0	FZD10	129214277	0.997000	0.39634	0.991000	0.47740	0.991000	0.79684	0.472000	0.22116	0.459000	0.27016	0.561000	0.74099	CCG		0.657	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	130648324	C	T	130648324	2	4	551	1	0	0	0	0	0	0	0	1	6131	845	30	2		2	FZD10	12	130648324	Silent	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	76946058	130648324	3203571	50	29694											
SACS	26278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	23904812	23904812	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr13:23904812C>A	ENST00000382292.3	-	9	13476	c.13203G>T	c.(13201-13203)tgG>tgT	p.W4401C	SACS_ENST00000382298.3_Missense_Mutation_p.W4401C|SACS_ENST00000402364.1_Missense_Mutation_p.W3651C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4401					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.W4254C(1)|p.W4401C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTCTTGATTCCATGAAGTAT	0.423																																																2	Substitution - Missense(2)	kidney(2)											75	78	77					13																	23904812		2203	4300	6503	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13203G>T	13.37:g.23904812C>A	ENSP00000371729:p.Trp4401Cys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989638	0.74589	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89875	-2.43;-2.58;-2.43	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93812	0.7111	10	0.87932	D	0	.	19.9341	0.97130	0.0:1.0:0.0:0.0	.	4401	Q9NZJ4	SACS_HUMAN	C	4401;3651;4401	ENSP00000371729:W4401C;ENSP00000385844:W3651C;ENSP00000371735:W4401C	ENSP00000371729:W4401C	W	-	3	0	SACS	22802812	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.818000	0.86416	2.711000	0.92665	0.563000	0.77884	TGG		0.423	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		A	23904812	C	A	23904812	3	1	551	1	0	0	0	0	1	0	0	0	13810	856	30	4	540	4	SACS	13	23904812	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08		23904812	91265066	51	29695											
FGF14	2259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	103053874	103053874	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr13:103053874T>A	ENST00000376131.4	-	1	250	c.155A>T	c.(154-156)cAt>cTt	p.H52L	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.H52L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCAGCATATGCGTTCCTTT	0.408																																																1	Substitution - Missense(1)	kidney(1)											122	106	112					13																	103053874		2203	4300	6503	SO:0001583	missense	2259				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376131.4:c.155A>T	13.37:g.103053874T>A	ENSP00000365301:p.His52Leu		Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376131.4	37	CCDS9500.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.710882	0.48517	.	.	ENSG00000102466	ENST00000376131	T	0.79033	-1.23	4.73	4.73	0.59995	.	1.733080	0.02968	N	0.144013	T	0.62454	0.2429	.	.	.	0.80722	D	1	P	0.42584	0.784	B	0.36885	0.235	T	0.57814	-0.7746	9	0.02654	T	1	.	14.3812	0.66911	0.0:0.0:0.0:1.0	.	52	Q92915-2	.	L	52	ENSP00000365301:H52L	ENSP00000365301:H52L	H	-	2	0	FGF14	101851875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.462000	0.80851	1.984000	0.57885	0.533000	0.62120	CAT		0.408	FGF14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045680.5			A	103053874	T	A	103053874	3	1	551	1	0	0	0	0	1	0	0	0	5845	1464	51	5	820	5	FGF14	13	103053874	Missense_Mutation	SNP	T	TCGA-CJ-5686-01A-11D-1669-08	79149062	103053874	12116004	52	29696											
FERMT2	10979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	53385908	53385908	+	Silent	SNP	A	A	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr14:53385908A>G	ENST00000395631.2	-	3	540	c.324T>C	c.(322-324)taT>taC	p.Y108Y	FERMT2_ENST00000399304.3_Silent_p.Y108Y|FERMT2_ENST00000343279.4_Silent_p.Y108Y|FERMT2_ENST00000341590.3_Silent_p.Y108Y|FERMT2_ENST00000553373.1_Silent_p.Y108Y			Q96AC1	FERM2_HUMAN	fermitin family member 2	108					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.Y108Y(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TCACCTTCACATACTTCATGT	0.393																																																1	Substitution - coding silent(1)	kidney(1)											120	114	116					14																	53385908		2203	4300	6503	SO:0001819	synonymous_variant	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.324T>C	14.37:g.53385908A>G			B5TJY2|Q14840|Q86TY7	Silent	SNP	ENST00000395631.2	37	CCDS9713.1																																																																																				0.393	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		G	53385908	A	G	53385908	2	3	551	1	0	0	0	0	0	0	0	1	5820	224	8	3		3	FERMT2	14	53385908	Silent	SNP	A	TCGA-CJ-5686-01A-11D-1669-08		53385908	53963632	53	29697											
TBPL2	387332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55895569	55895569	+	Silent	SNP	G	G	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr14:55895569G>A	ENST00000247219.5	-	5	982	c.912C>T	c.(910-912)ccC>ccT	p.P304P		NM_199047.2	NP_950248.1			TATA box binding protein like 2									p.P304P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CCAGCCTGATGGGAAATCTCA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											118	108	111					14																	55895569		2203	4300	6503	SO:0001819	synonymous_variant	387332			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.912C>T	14.37:g.55895569G>A				Silent	SNP	ENST00000247219.5	37	CCDS9724.1																																																																																				0.408	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		A	55895569	G	A	55895569	2	1	551	1	0	0	0	0	0	0	0	1	15651	1335	47	2		2	TBPL2	14	55895569	Silent	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	2509661	55895569	51453971	54	29698											
PCSK6	5046	broad.mit.edu;ucsc.edu	37	15	101971643	101971643	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr15:101971643C>A	ENST00000348070.1	-	5	535	c.536G>T	c.(535-537)tGc>tTc	p.C179F	PCSK6_ENST00000398181.2_Missense_Mutation_p.C179F|PCSK6_ENST00000344273.2_Missense_Mutation_p.C179F|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.C14F|PCSK6_ENST00000358417.3_Missense_Mutation_p.C179F	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	180					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.C179F(3)|p.C14F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGACCGGCAGCGACTGTT	0.532																																																4	Substitution - Missense(4)	kidney(4)											63	64	63					15																	101971643		2081	4215	6296	SO:0001583	missense	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.536G>T	15.37:g.101971643C>A	ENSP00000305056:p.Cys179Phe		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37		.	.	.	.	.	.	.	.	.	.	C	26.4	4.735630	0.89482	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.80480	0.98;0.98;0.98;0.98;-1.38	5.67	5.67	0.87782	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.000000	0.85682	D	0.000000	D	0.90393	0.6993	M	0.80847	2.515	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.984;0.991;0.984;0.984;1.0;0.998;0.999	D;D;P;P;P;P;D;D;D	0.85130	0.991;0.994;0.809;0.906;0.809;0.809;0.997;0.976;0.961	D	0.90523	0.4490	10	0.56958	D	0.05	-43.0865	18.7651	0.91869	0.0:1.0:0.0:0.0	.	180;85;179;180;179;179;180;180;179	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	F	179;179;84;179;179;14	ENSP00000305056:C179F;ENSP00000351193:C179F;ENSP00000344410:C179F;ENSP00000381243:C179F;ENSP00000332052:C14F	ENSP00000332052:C14F	C	-	2	0	PCSK6	99789166	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.612000	0.67681	2.692000	0.91855	0.655000	0.94253	TGC		0.532	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		A	101971643	C	A	101971643	3	1	551	1	0	0	0	0	1	0	0	0	11606	710	25	4	2925	4	PCSK6	15	101971643	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08		101971643	559749	55	29699											
SPG7	6687	hgsc.bcm.edu;ucsc.edu	37	16	89616909	89616910	+	Frame_Shift_Ins	INS	-	-	A	rs369227537		TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr16:89616909_89616910insA	ENST00000268704.2	+	13	1686_1687	c.1671_1672insA	c.(1672-1674)aaafs	p.K558fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	558					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CAGGGACTGCCAAAAAGAGCAA	0.604																																																0																																										SO:0001589	frameshift_variant	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1676dupA	16.37:g.89616914_89616914dupA	ENSP00000268704:p.Lys558fs		O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Ins	INS	ENST00000268704.2	37	CCDS10977.1																																																																																				0.604	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		A	89616910	-	A	89616909	7	5	551	1	0	1	1	0	0	0	0	0	15049	581	21	0	1871	0	SPG7	16	89616909	Frame_Shift_Ins	INS	-	TCGA-CJ-5686-01A-11D-1669-08		89616909	737844	56	29700											
PITPNM3	83394	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	6386893	6386893	+	Silent	SNP	G	G	A	rs374847640		TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr17:6386893G>A	ENST00000262483.8	-	6	618	c.531C>T	c.(529-531)ctC>ctT	p.L177L	PITPNM3_ENST00000421306.3_Silent_p.L141L	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	177					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.L177L(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CGAACTTGATGAGGATGTGGC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											149	101	117					17																	6386893		2203	4300	6503	SO:0001819	synonymous_variant	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.531C>T	17.37:g.6386893G>A			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	CCDS11076.1																																																																																				0.592	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		A	6386893	G	A	6386893	2	1	551	1	0	0	0	0	0	0	0	1	11954	1277	45	2		2	PITPNM3	17	6386893	Silent	SNP	G	TCGA-CJ-5686-01A-11D-1669-08		6386893	74808317	57	29701											
CDK3	1018	broad.mit.edu;hgsc.bcm.edu	37	17	73998205	73998205	+	Silent	SNP	C	C	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr17:73998205C>A	ENST00000425876.2	+	3	385	c.297C>A	c.(295-297)ctC>ctA	p.L99L	CDK3_ENST00000448471.1_Silent_p.L99L|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	99	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.L99L(1)		central_nervous_system(1)	1						GCTCAGAGCTCCCCCTGCACC	0.597																																																1	Substitution - coding silent(1)	kidney(1)											91	79	83					17																	73998205		2203	4300	6503	SO:0001819	synonymous_variant	1018			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"Cyclin-dependent kinases"	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.297C>A	17.37:g.73998205C>A				Silent	SNP	ENST00000425876.2	37	CCDS11736.1																																																																																				0.597	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258		A	73998205	C	A	73998205	2	1	551	1	0	0	0	0	0	0	0	1	3142	842	30	4		4	CDK3	17	73998205	Silent	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	67611312	73998205	7197005	58	29702											
ALPK2	115701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	56205356	56205356	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr18:56205356G>A	ENST00000361673.3	-	5	2276	c.2063C>T	c.(2062-2064)aCa>aTa	p.T688I	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	688						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T688I(1)|p.T54I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAAGGAAATTGTTGTGGTCCC	0.498																																																2	Substitution - Missense(2)	kidney(2)											57	49	51					18																	56205356		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2063C>T	18.37:g.56205356G>A	ENSP00000354991:p.Thr688Ile		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520964	0.27211	.	.	ENSG00000198796	ENST00000361673	T	0.53640	0.61	5.91	-1.69	0.08186	.	1.013800	0.07893	N	0.971439	T	0.36026	0.0952	L	0.43152	1.355	0.09310	N	1	B;B	0.24721	0.11;0.024	B;B	0.23419	0.046;0.005	T	0.33137	-0.9880	10	0.46703	T	0.11	0.2428	5.7219	0.17992	0.4616:0.0:0.4136:0.1249	.	688;688	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	I	688	ENSP00000354991:T688I	ENSP00000354991:T688I	T	-	2	0	ALPK2	54356336	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.125000	0.10579	-0.365000	0.08076	-0.136000	0.14681	ACA		0.498	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		A	56205356	G	A	56205356	3	1	551	1	0	0	0	0	1	0	0	0	545	1377	48	2	4485	2	ALPK2	18	56205356	Missense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08		56205356	21871892	59	29703											
FBXW9	84261	broad.mit.edu;hgsc.bcm.edu	37	19	12807200	12807200	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr19:12807200G>A	ENST00000380339.3	-	1	232	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000393261.3_Missense_Mutation_p.R66W|FBXW9_ENST00000587955.1_Missense_Mutation_p.R66W			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	66					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.R66W(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GACGCGGCCCGAGGCTCCGAA	0.697																																																1	Substitution - Missense(1)	kidney(1)											13	17	16					19																	12807200		1875	4083	5958	SO:0001583	missense	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.196C>T	19.37:g.12807200G>A	ENSP00000369696:p.Arg66Trp		B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37		.	.	.	.	.	.	.	.	.	.	G	14.89	2.670423	0.47677	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.44881	1.9;0.91	4.68	1.18	0.20946	.	0.908365	0.09091	N	0.849833	T	0.22475	0.0542	N	0.12182	0.205	0.21105	N	0.999783	B;B	0.17465	0.022;0.004	B;B	0.14578	0.011;0.004	T	0.21518	-1.0243	10	0.35671	T	0.21	-12.1666	4.9979	0.14249	0.1879:0.0:0.6422:0.1698	.	66;66	Q5XUX1-2;Q5XUX1-3	.;.	W	66	ENSP00000376945:R66W;ENSP00000369696:R66W	ENSP00000369696:R66W	R	-	1	2	FBXW9	12668200	0.000000	0.05858	0.087000	0.20705	0.122000	0.20287	0.347000	0.20014	0.359000	0.24239	0.462000	0.41574	CGG		0.697	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		A	12807200	G	A	12807200	3	1	551	1	0	0	0	0	1	0	0	0	5773	1057	37	1	1220	1	FBXW9	19	12807200	Missense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08		12807200	46321783	60	29704											
HAUS8	93323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17169444	17169444	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr19:17169444T>G	ENST00000253669.5	-	8	750	c.560A>C	c.(559-561)aAg>aCg	p.K187T	HAUS8_ENST00000593360.1_Missense_Mutation_p.K126T|HAUS8_ENST00000448593.2_Missense_Mutation_p.K186T			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	187					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.K187T(1)|p.K187fs*9(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TTTCTGTAGCTTCTCCTTCTC	0.453																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|kidney(1)											70	64	66					19																	17169444		2203	4300	6503	SO:0001583	missense	93323			BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"HAUS augmin-like complex subunits"	30532	protein-coding gene	gene with protein product		613434	"HEC1/NDC80 interacting, centrosome associated 1"	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.560A>C	19.37:g.17169444T>G	ENSP00000253669:p.Lys187Thr		B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.677431	0.47886	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.76448	-1.02;-1.02	4.55	-3.13	0.05266	.	0.908188	0.09402	N	0.807097	T	0.67599	0.2910	L	0.54323	1.7	0.09310	N	1	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.13407	0.009;0.009;0.009	T	0.57934	-0.7725	10	0.66056	D	0.02	-8.9424	5.029	0.14400	0.0:0.3612:0.2926:0.3462	.	126;186;187	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	T	187;186	ENSP00000253669:K187T;ENSP00000395298:K186T	ENSP00000253669:K187T	K	-	2	0	HAUS8	17030444	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.581000	0.02119	-0.501000	0.06605	0.459000	0.35465	AAG		0.453	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		G	17169444	T	G	17169444	3	3	551	1	0	0	0	0	1	0	0	0	6974	1609	56	5	688	5	HAUS8	19	17169444	Missense_Mutation	SNP	T	TCGA-CJ-5686-01A-11D-1669-08	4362244	17169444	41959539	61	29705											
SFRS14	10147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19129981	19129981	+	Missense_Mutation	SNP	C	C	T	rs373174595		TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr19:19129981C>T	ENST00000601879.1	-	4	2084	c.1787G>A	c.(1786-1788)cGt>cAt	p.R596H	SUGP2_ENST00000456085.2_Missense_Mutation_p.R365H|SUGP2_ENST00000600377.1_Missense_Mutation_p.R610H|SUGP2_ENST00000337018.6_Missense_Mutation_p.R596H|SUGP2_ENST00000452918.2_Missense_Mutation_p.R596H			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	596					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R596H(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTCGATGACACGTTTCACAAG	0.507																																																1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG,HIS/ARG	1,4405		0,1,2202	108	91	96		1787,1787	4.5	0.1	19		96	0,8600		0,0,4300	no	missense,missense	SUGP2	NM_001017392.3,NM_014884.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	596/1083,596/1083	19129981	1,13005	2203	4300	6503	SO:0001583	missense	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1787G>A	19.37:g.19129981C>T	ENSP00000472286:p.Arg596His		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798757	0.50208	2.27E-4	0.0	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.59	4.49	0.54785	SWAP/Surp (1);	0.178846	0.39083	N	0.001469	T	0.44787	0.1310	N	0.19112	0.55	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.62491	0.903;0.903;0.862	T	0.30563	-0.9974	10	0.52906	T	0.07	-15.4684	13.0309	0.58840	0.0:0.8382:0.1618:0.0	.	365;596;596	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	H	596;596;596;365	ENSP00000337926:R596H;ENSP00000332373:R596H;ENSP00000389380:R596H;ENSP00000409603:R365H	ENSP00000332373:R596H	R	-	2	0	SUGP2	18990981	0.443000	0.25641	0.122000	0.21767	0.117000	0.20001	1.979000	0.40608	2.639000	0.89480	0.655000	0.94253	CGT		0.507	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		T	19129981	C	T	19129981	3	4	551	1	0	0	0	0	1	0	0	0	14176	536	19	1	1489	1	SFRS14	19	19129981	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	1960537	19129981	39999002	62	29706											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39008078	39008078	+	Silent	SNP	G	G	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr19:39008078G>T	ENST00000359596.3	+	66	9765	c.9765G>T	c.(9763-9765)ggG>ggT	p.G3255G	RYR1_ENST00000360985.3_Silent_p.G3255G|RYR1_ENST00000355481.4_Silent_p.G3255G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3255					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.G3255G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACATTGGGGGGCTGGCCGAGT	0.662																																																1	Substitution - coding silent(1)	kidney(1)											47	44	45					19																	39008078		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9765G>T	19.37:g.39008078G>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			T	39008078	G	T	39008078	2	4	551	1	0	0	0	0	0	0	0	1	13774	1190	42	4		4	RYR1	19	39008078	Silent	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	19878097	39008078	20120905	63	29707											
EGLN2	112398	hgsc.bcm.edu;ucsc.edu	37	19	41306619	41306619	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr19:41306619T>C	ENST00000593726.1	+	1	1170	c.142T>C	c.(142-144)Tac>Cac	p.Y48H	EGLN2_ENST00000406058.2_Missense_Mutation_p.Y48H|EGLN2_ENST00000303961.4_Missense_Mutation_p.Y48H|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000594140.1_5'Flank			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	48					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GCTCCCCTCCTACCACTGTCC	0.652																																																0													50	45	47					19																	41306619		2203	4300	6503	SO:0001583	missense	112398			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.142T>C	19.37:g.41306619T>C	ENSP00000469686:p.Tyr48His		A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056184	0.36277	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.23754	1.89;1.89	4.15	4.15	0.48705	.	0.532983	0.17951	N	0.156514	T	0.12817	0.0311	N	0.14661	0.345	0.25525	N	0.987334	B	0.02656	0.0	B	0.04013	0.001	T	0.17107	-1.0380	10	0.21540	T	0.41	-4.0076	6.3593	0.21419	0.0:0.1098:0.0:0.8902	.	48	Q96KS0	EGLN2_HUMAN	H	48	ENSP00000307080:Y48H;ENSP00000385253:Y48H	ENSP00000307080:Y48H	Y	+	1	0	EGLN2	45998459	0.687000	0.27671	0.933000	0.37362	0.984000	0.73092	1.589000	0.36644	1.874000	0.54306	0.402000	0.26972	TAC		0.652	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			C	41306619	T	C	41306619	3	2	551	1	0	0	0	0	1	0	0	0	4971	1522	53	3	144	3	EGLN2	19	41306619	Missense_Mutation	SNP	T	TCGA-CJ-5686-01A-11D-1669-08	2298541	41306619	17822364	64	29708											
ZNF808	388558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53058493	53058493	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr19:53058493G>T	ENST00000359798.4	+	5	2504	c.2324G>T	c.(2323-2325)tGg>tTg	p.W775L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	775					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W775L(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTCCGTCACTGGTCATCCCTT	0.443																																																1	Substitution - Missense(1)	kidney(1)											196	198	197					19																	53058493		2203	4300	6503	SO:0001583	missense	388558			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2324G>T	19.37:g.53058493G>T	ENSP00000352846:p.Trp775Leu		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	2.401	-0.337518	0.05278	.	.	ENSG00000198482	ENST00000359798	T	0.20200	2.09	1.74	-3.49	0.04724	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.00068	-2.29	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.37337	-0.9710	9	0.23891	T	0.37	.	3.2837	0.06925	0.4761:0.0:0.2044:0.3195	.	775	Q8N4W9	ZN808_HUMAN	L	775	ENSP00000352846:W775L	ENSP00000352846:W775L	W	+	2	0	ZNF808	57750305	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.090000	0.00152	-1.935000	0.01049	-1.337000	0.01257	TGG		0.443	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		T	53058493	G	T	53058493	3	4	551	1	0	0	0	0	1	0	0	0	18178	1357	47	4	2334	4	ZNF808	19	53058493	Missense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	11751874	53058493	6070490	65	29709											
CDC45	8318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	19467681	19467681	+	Splice_Site	SNP	A	A	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr22:19467681A>T	ENST00000407835.1	+	3	308	c.52A>T	c.(52-54)Agg>Tgg	p.R18W	UFD1L_ENST00000484101.1_5'Flank|UFD1L_ENST00000399523.1_5'Flank|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Splice_Site_p.R18W|CDC45_ENST00000404724.3_Splice_Site_p.R18W|UFD1L_ENST00000360834.4_5'Flank|CDC45_ENST00000263201.1_Splice_Site_p.R18W|UFD1L_ENST00000263202.10_5'Flank			O75419	CDC45_HUMAN	cell division cycle 45	18					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R18W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCCCCGATAGAGGGTCCTTCT	0.682																																																1	Substitution - Missense(1)	kidney(1)											92	75	81					22																	19467681		2203	4300	6503	SO:0001630	splice_region_variant	8318			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.52-1A>T	22.37:g.19467681A>T			B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.559865	0.86335	.	.	ENSG00000093009	ENST00000407835;ENST00000438587;ENST00000455750;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	6.04	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	M	0.85041	2.73	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.60172	-0.7315	10	0.87932	D	0	-31.6736	11.9369	0.52878	0.7687:0.2313:0.0:0.0	.	18;13;18;18;18	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	W	18;6;18;18;18;18	ENSP00000385240:R18W;ENSP00000397434:R6W;ENSP00000413138:R18W;ENSP00000405726:R18W;ENSP00000263201:R18W;ENSP00000384978:R18W	ENSP00000263201:R18W	R	+	1	2	CDC45	17847681	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	1.522000	0.35921	2.317000	0.78254	0.460000	0.39030	AGG		0.682	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504	Missense_Mutation	T	19467681	A	T	19467681	5	4	551	1	0	0	0	0	0	0	1	0	3083	318	11	5	58	5	CDC45	22	19467681	Splice_Site	SNP	A	TCGA-CJ-5686-01A-11D-1669-08		19467681	31836885	66	29710											
GTSE1	51512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	46708174	46708174	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chr22:46708174G>T	ENST00000454366.1	+	5	1111	c.899G>T	c.(898-900)gGc>gTc	p.G300V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	281					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.G281V(1)|p.G300V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TTGGGCCAGGGCAAGCGGGCG	0.592																																					GBM(153;542 1915 12487 29016 50495)											2	Substitution - Missense(2)	kidney(2)											36	38	38					22																	46708174		2203	4300	6503	SO:0001583	missense	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.899G>T	22.37:g.46708174G>T	ENSP00000415430:p.Gly300Val		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783180	0.31593	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08458	3.09	5.03	2.75	0.32379	.	0.406223	0.28908	N	0.013751	T	0.13030	0.0316	L	0.46157	1.445	0.80722	D	1	D	0.60160	0.987	P	0.53518	0.728	T	0.04870	-1.0921	10	0.35671	T	0.21	-19.2069	9.8305	0.40939	0.0:0.0:0.6272:0.3728	.	281	Q9NYZ3	GTSE1_HUMAN	V	300;260	ENSP00000415430:G300V	ENSP00000354634:G260V	G	+	2	0	GTSE1	45086838	0.999000	0.42202	0.972000	0.41901	0.074000	0.17049	1.484000	0.35508	1.410000	0.46936	0.650000	0.86243	GGC		0.592	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		T	46708174	G	T	46708174	3	4	551	1	0	0	0	0	1	0	0	0	6887	1203	42	4	913	4	GTSE1	22	46708174	Missense_Mutation	SNP	G	TCGA-CJ-5686-01A-11D-1669-08	27240493	46708174	4596392	67	29711											
TAF1	6872	broad.mit.edu;hgsc.bcm.edu	37	X	70602417	70602417	+	Silent	SNP	T	T	C			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chrX:70602417T>C	ENST00000373790.4	+	10	1617	c.1566T>C	c.(1564-1566)tcT>tcC	p.S522S	TAF1_ENST00000449580.1_Silent_p.S522S|TAF1_ENST00000423759.1_Silent_p.S543S|TAF1_ENST00000276072.3_Silent_p.S543S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	522	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.S522S(1)|p.S543S(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGGCCACCTCTAACTCCCCCT	0.443																																																2	Substitution - coding silent(2)	kidney(2)											59	55	56					X																	70602417		2203	4300	6503	SO:0001819	synonymous_variant	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1566T>C	X.37:g.70602417T>C			A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	CCDS35325.1																																																																																				0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		C	70602417	T	C	70602417	2	2	551	1	0	0	0	0	0	0	0	1	15518	1509	53	3		3	TAF1	23	70602417	Silent	SNP	T	TCGA-CJ-5686-01A-11D-1669-08		70602417	84668143	68	29712											
BRWD3	254065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	79991541	79991541	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chrX:79991541C>G	ENST00000373275.4	-	9	1076	c.860G>C	c.(859-861)gGt>gCt	p.G287A		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	287					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.G287A(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCCATCAGCACCAGTAGAAGT	0.294																																																1	Substitution - Missense(1)	kidney(1)											74	67	69					X																	79991541		2203	4298	6501	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.860G>C	X.37:g.79991541C>G	ENSP00000362372:p.Gly287Ala		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395770	0.83011	.	.	ENSG00000165288	ENST00000373275	T	0.62788	-0.0	4.31	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	N	0.20483	0.58	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.65829	-0.6073	9	.	.	.	-14.8049	16.4124	0.83723	0.0:1.0:0.0:0.0	.	287	Q6RI45	BRWD3_HUMAN	A	287	ENSP00000362372:G287A	.	G	-	2	0	BRWD3	79878197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.521000	0.81832	2.131000	0.65755	0.544000	0.68410	GGT		0.294	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		G	79991541	C	G	79991541	3	3	551	1	0	0	0	0	1	0	0	0	1528	507	18	4	4680	4	BRWD3	23	79991541	Missense_Mutation	SNP	C	TCGA-CJ-5686-01A-11D-1669-08	9389124	79991541	75279019	69	29713											
IRS4	8471	hgsc.bcm.edu;ucsc.edu	37	X	107976255	107976258	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-CJ-5686-01A-11D-1669-08	TCGA-CJ-5686-11A-01D-1669-08	CTGT	CTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	695e2a72-6b97-4fa1-9f57-d7c6e10438ee	643a505e-ab7b-4885-a5ba-ed890cf80da8	g.chrX:107976255_107976258delCTGT	ENST00000372129.2	-	1	3393_3396	c.3317_3320delACAG	c.(3316-3321)gacagcfs	p.DS1106fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1106	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTCTCGAGGCTGTCTGTTGGAAA	0.593																																																0																																										SO:0001589	frameshift_variant	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3317_3320delACAG	X.37:g.107976259_107976262delCTGT	ENSP00000361202:p.Asp1106fs			Frame_Shift_Del	DEL	ENST00000372129.2	37	CCDS14544.1																																																																																				0.593	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		-	107976258	CTGT	-	107976255	7	5	551	1	0	1	0	1	0	0	0	0	7844	797	28	0	457	0	IRS4	23	107976255	Frame_Shift_Del	DEL	CTGT	TCGA-CJ-5686-01A-11D-1669-08	27984714	107976255	47294305	70	29714											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11210198	11210198	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:11210198C>T	ENST00000361445.4	-	31	4631	c.4555G>A	c.(4555-4557)Gct>Act	p.A1519T	MTOR-AS1_ENST00000420480.1_RNA|RNU6-537P_ENST00000517277.1_RNA|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1519	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A1519T(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCCCATGCAGCTGCAGCAGCC	0.542																																																1	Substitution - Missense(1)	kidney(1)											77	69	72					1																	11210198		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4555G>A	1.37:g.11210198C>T	ENSP00000354558:p.Ala1519Thr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346891	0.95807	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.74947	-0.89	5.16	5.16	0.70880	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.90957	0.7157	H	0.95950	3.745	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.93678	0.6996	10	0.87932	D	0	-23.8113	19.0171	0.92899	0.0:1.0:0.0:0.0	.	1519	P42345	MTOR_HUMAN	T	1519	ENSP00000354558:A1519T	ENSP00000354558:A1519T	A	-	1	0	MTOR	11132785	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.379000	0.79691	2.561000	0.86390	0.655000	0.94253	GCT		0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11210198	C	T	11210198	3	4	552	1	0	0	0	0	1	0	0	0	9956	797	28	2	3206	2	MTOR	1	11210198	Missense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08		11210198	238040423	1	29715											
PHACTR4	65979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28800469	28800469	+	Silent	SNP	C	C	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:28800469C>A	ENST00000373839.3	+	7	1488	c.1227C>A	c.(1225-1227)ccC>ccA	p.P409P	PHACTR4_ENST00000373836.3_Silent_p.P419P|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	409	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P419P(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATATACCCTCTAGGCTGC	0.527																																																1	Substitution - coding silent(1)	kidney(1)											70	71	71					1																	28800469		1930	4139	6069	SO:0001819	synonymous_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1227C>A	1.37:g.28800469C>A			A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	ENST00000373839.3	37	CCDS41293.1																																																																																				0.527	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		A	28800469	C	A	28800469	2	1	552	1	0	0	0	0	0	0	0	1	11814	668	24	4		4	PHACTR4	1	28800469	Silent	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	17590271	28800469	220450152	2	29716											
PPIE	10450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40209514	40209514	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:40209514G>T	ENST00000324379.5	+	6	321	c.302G>T	c.(301-303)tGg>tTg	p.W101L	PPIE_ENST00000356511.2_Missense_Mutation_p.W101L|PPIE_ENST00000372830.1_Missense_Mutation_p.W101L|PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000470213.1_Missense_Mutation_p.W101L	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	101					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.W101L(2)		kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GATGATGACTGGTTGAAGAAG	0.443																																																2	Substitution - Missense(2)	kidney(2)											102	105	104					1																	40209514		2203	4300	6503	SO:0001583	missense	10450			AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"RNA binding motif (RRM) containing"	9258	protein-coding gene	gene with protein product	"peptidyl-prolyl cis-trans isomerase E", "cyclophilin 33", "cyclophilin E", "PPIase E", "rotamase E", "peptidylprolyl isomerase E, isoform 1"	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.302G>T	1.37:g.40209514G>T	ENSP00000312769:p.Trp101Leu		B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Missense_Mutation	SNP	ENST00000324379.5	37	CCDS443.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915318	0.92178	.	.	ENSG00000084072	ENST00000470018;ENST00000324379;ENST00000356511;ENST00000497370;ENST00000470213;ENST00000372835;ENST00000372830	T;T;T;T;T;T	0.73469	3.03;3.02;1.47;3.5;-0.75;3.0	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	M	0.89534	3.04	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;1.0;0.998	P;D;D;P	0.87578	0.896;0.948;0.998;0.835	D	0.90365	0.4376	10	0.54805	T	0.06	-14.3597	17.5827	0.87973	0.0:0.0:1.0:0.0	.	35;101;101;101	B4E3F2;Q5TGA3;Q9UNP9-2;Q9UNP9	.;.;.;PPIE_HUMAN	L	35;101;101;35;101;50;101	ENSP00000312769:W101L;ENSP00000348904:W101L;ENSP00000433475:W35L;ENSP00000431714:W101L;ENSP00000361925:W50L;ENSP00000361918:W101L	ENSP00000312769:W101L	W	+	2	0	PPIE	39982101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.899000	0.92544	2.501000	0.84356	0.561000	0.74099	TGG		0.443	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2	NM_006112		T	40209514	G	T	40209514	3	4	552	1	0	0	0	0	1	0	0	0	12327	1357	47	4	324	4	PPIE	1	40209514	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	11409045	40209514	209041107	3	29717											
PCSK9	255738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	55509579	55509580	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:55509579_55509580TC>AT	ENST00000302118.5	+	2	561_562	c.271_272TC>AT	c.(271-273)TCa>ATa	p.S91I	PCSK9_ENST00000452118.2_Missense_Mutation_p.S91I|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	91					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S91T(2)|p.S91>?(1)|p.S91L(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCTCTCGCAGTCAGAGCGCACT	0.629																																					Pancreas(137;1454 1827 5886 22361 42375)											4	Substitution - Missense(3)|Complex(1)	kidney(3)|lung(1)																																								SO:0001583	missense	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	Exception_encountered	1.37:g.55509579_55509580delinsAT	ENSP00000303208:p.Ser91Ile		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	CCDS603.1																																																																																				0.629	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		AT	55509580	TC	AT	55509579	3	1	552	1	0	0	0	0	1	0	0	0	11608	1667	58	5	277	5	PCSK9	1	55509579	Missense_Mutation	DNP	TC	TCGA-CJ-6027-01A-11D-1669-08	15300065	55509579	193741042	4	29718											
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62237112	62237112	+	Silent	SNP	A	A	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:62237112A>G	ENST00000371158.2	+	6	648	c.534A>G	c.(532-534)agA>agG	p.R178R	INADL_ENST00000316485.6_Silent_p.R178R	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	178	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.R178R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGGATCAAAGATTAAAGGAAA	0.308																																																1	Substitution - coding silent(1)	kidney(1)											76	71	72					1																	62237112		2203	4300	6503	SO:0001819	synonymous_variant	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.534A>G	1.37:g.62237112A>G			O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				0.308	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		G	62237112	A	G	62237112	2	3	552	1	0	0	0	0	0	0	0	1	7733	330	12	3		3	INADL	1	62237112	Silent	SNP	A	TCGA-CJ-6027-01A-11D-1669-08	6727533	62237112	187013509	5	29719											
IL23R	149233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	67705899	67705899	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:67705899C>G	ENST00000347310.5	+	9	1254	c.1083C>G	c.(1081-1083)atC>atG	p.I361M	IL23R_ENST00000371002.1_Intron|AL109843.1_ENST00000408806.1_RNA|IL23R_ENST00000395227.1_Missense_Mutation_p.I106M|IL23R_ENST00000473881.1_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	361					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.I361M(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TGGGAATGATCGTCTTTGCTG	0.328																																																1	Substitution - Missense(1)	kidney(1)											231	209	216					1																	67705899		2203	4299	6502	SO:0001583	missense	149233			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1083C>G	1.37:g.67705899C>G	ENSP00000321345:p.Ile361Met		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.43|14.43	2.532432|2.532432	0.45073|0.45073	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.34072|.	1.38;1.44|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.496991|.	0.18688|.	N|.	0.133946|.	T|T	0.27489|0.27489	0.0675|0.0675	N|N	0.22421|0.22421	0.69|0.69	0.33144|0.33144	D|D	0.544716|0.544716	P;P;P;D;P;P;D;D;P|.	0.54397|.	0.924;0.924;0.924;0.958;0.772;0.794;0.966;0.958;0.873|.	B;B;B;B;B;B;P;P;B|.	0.50192|.	0.443;0.443;0.443;0.443;0.368;0.363;0.634;0.54;0.363|.	T|T	0.10291|0.10291	-1.0636|-1.0636	10|5	0.66056|.	D|.	0.02|.	-25.5107|-25.5107	14.0103|14.0103	0.64493|0.64493	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	107;185;185;119;190;215;268;106;361|.	Q5VWK5-2;B6HY71;B6HY89;E9PHX4;E9PG12;B6HY79;B6VNT7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;.;.;IL23R_HUMAN|.	M|W	361;190;119;106|123	ENSP00000321345:I361M;ENSP00000378652:I106M|.	ENSP00000321345:I361M|.	I|S	+|+	3|2	3|0	IL23R|IL23R	67478487|67478487	0.759000|0.759000	0.28416|0.28416	0.966000|0.966000	0.40874|0.40874	0.256000|0.256000	0.26092|0.26092	0.693000|0.693000	0.25497|0.25497	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	ATC|TCG		0.328	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		G	67705899	C	G	67705899	3	3	552	1	0	0	0	0	1	0	0	0	7678	874	31	4	1113	4	IL23R	1	67705899	Missense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	5468787	67705899	181544722	6	29720											
SH3GLB1	51100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	87200796	87200796	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:87200796A>T	ENST00000370558.4	+	7	1019	c.695A>T	c.(694-696)gAa>gTa	p.E232V	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.E132V|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.E253V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	232	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)	p.E253V(1)|p.E232V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		GACTTTGTAGAAGCCCAGATG	0.403																																																2	Substitution - Missense(2)	kidney(2)											138	129	132					1																	87200796		2203	4300	6503	SO:0001583	missense	51100			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	10833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 70"	609287	"SH3-domain, GRB2-like, endophilin B1"			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.695A>T	1.37:g.87200796A>T	ENSP00000473267:p.Glu232Val		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	CCDS710.1	.	.	.	.	.	.	.	.	.	.	A	32	5.128459	0.94473	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.35605	1.3;1.3	5.53	5.53	0.82687	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.86343	2.81	0.80722	D	1	D;D;D	0.63880	0.993;0.991;0.958	D;P;P	0.64410	0.925;0.886;0.833	T	0.66760	-0.5842	10	0.87932	D	0	-5.4135	15.6728	0.77292	1.0:0.0:0.0:0.0	.	132;253;232	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	V	232;132;253	ENSP00000441355:E132V;ENSP00000418744:E253V	ENSP00000212369:E232V	E	+	2	0	SH3GLB1	86973384	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.336000	0.96533	2.095000	0.63458	0.533000	0.62120	GAA		0.403	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		T	87200796	A	T	87200796	3	4	552	1	0	0	0	0	1	0	0	0	14259	246	9	5	721	5	SH3GLB1	1	87200796	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08	19494897	87200796	162049825	7	29721											
PKN2	5586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	89236095	89236095	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:89236095G>T	ENST00000370521.3	+	4	924	c.565G>T	c.(565-567)Gtc>Ttc	p.V189F	PKN2_ENST00000316005.7_Missense_Mutation_p.V189F|PKN2_ENST00000370505.3_Missense_Mutation_p.V32F|PKN2_ENST00000370513.5_Missense_Mutation_p.V189F	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	189					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.V189F(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AAAAATAGAAGTCATACGAAT	0.373																																																2	Substitution - Missense(2)	kidney(2)											123	121	121					1																	89236095		1908	4119	6027	SO:0001583	missense	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.565G>T	1.37:g.89236095G>T	ENSP00000359552:p.Val189Phe		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	CCDS714.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280789	0.40294	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.35	5.35	0.76521	.	0.000000	0.40469	U	0.001086	T	0.09905	0.0243	N	0.11870	0.19	0.80722	D	1	B;B;B;B	0.19073	0.004;0.002;0.014;0.033	B;B;B;B	0.21151	0.029;0.008;0.033;0.03	T	0.12993	-1.0526	10	0.14252	T	0.57	.	19.4322	0.94775	0.0:0.0:1.0:0.0	.	189;189;189;189	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	F	189;189;32;189	ENSP00000359552:V189F;ENSP00000317851:V189F;ENSP00000359536:V32F;ENSP00000359544:V189F	ENSP00000317851:V189F	V	+	1	0	PKN2	89008683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.871000	0.63042	2.649000	0.89929	0.655000	0.94253	GTC		0.373	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		T	89236095	G	T	89236095	3	4	552	1	0	0	0	0	1	0	0	0	11982	1029	36	4	579	4	PKN2	1	89236095	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	2035299	89236095	160014526	8	29722											
CD101	9398	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	117568204	117568204	+	Silent	SNP	C	C	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:117568204C>T	ENST00000256652.4	+	8	2560	c.2502C>T	c.(2500-2502)tgC>tgT	p.C834C	RP11-27K13.3_ENST00000421254.1_RNA|CD101_ENST00000369470.1_Silent_p.C834C|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	834	Ig-like C2-type 7.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.C834C(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCATCCGCTGCAGCCTGGAGA	0.468																																																1	Substitution - coding silent(1)	kidney(1)											76	78	77					1																	117568204		2203	4300	6503	SO:0001819	synonymous_variant	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2502C>T	1.37:g.117568204C>T			Q15856	Silent	SNP	ENST00000256652.4	37	CCDS891.1																																																																																				0.468	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		T	117568204	C	T	117568204	2	4	552	1	0	0	0	0	0	0	0	1	2964	718	25	2		2	CD101	1	117568204	Silent	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	28332109	117568204	131682417	9	29723											
S100A7A	338324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153391770	153391770	+	Silent	SNP	T	T	C	rs368536104		TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:153391770T>C	ENST00000368729.4	+	3	348	c.291T>C	c.(289-291)tcT>tcC	p.S97S	S100A7A_ENST00000368728.2_Silent_p.S97S|S100A7A_ENST00000329256.2_Silent_p.S97S	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	97						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.S97S(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGCCCTGTTCTGGGGGAAGCC	0.527																																																1	Substitution - coding silent(1)	kidney(1)						T		0,4406		0,0,2203	46	46	46		291	-1.9	0	1		46	1,8599		0,1,4299	no	coding-synonymous	S100A7A	NM_176823.3		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		97/102	153391770	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	338324			AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"S100 calcium binding proteins", "EF-hand domain containing"	21657	protein-coding gene	gene with protein product			"S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1"	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.291T>C	1.37:g.153391770T>C			D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	37	CCDS30872.1																																																																																				0.527	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		C	153391770	T	C	153391770	2	2	552	1	0	0	0	0	0	0	0	1	13790	1567	55	3		3	S100A7A	1	153391770	Silent	SNP	T	TCGA-CJ-6027-01A-11D-1669-08	35823566	153391770	95858851	10	29724											
LAMC2	3918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183177097	183177098	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:183177097_183177098TC>AA	ENST00000264144.4	+	2	226_227	c.161_162TC>AA	c.(160-162)cTC>cAA	p.L54Q	LAMC2_ENST00000493293.1_Missense_Mutation_p.L54Q	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	54	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.L54L(1)|p.L54H(1)|p.L54>?(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTCCGCTGCCTCAACTGCAATG	0.485																																																3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	Exception_encountered	1.37:g.183177097_183177098delinsAA	ENSP00000264144:p.Leu54Gln		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation|Silent	SNP	ENST00000264144.4	37	CCDS1352.1																																																																																				0.485	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		AA	183177098	TC	AA	183177097	3	1	552	1	0	0	0	0	1	0	0	0	8617	1551	54	5	167	5	LAMC2	1	183177097	Missense_Mutation	DNP	TC	TCGA-CJ-6027-01A-11D-1669-08	29785327	183177097	66073524	11	29725											
LMOD1	25802	broad.mit.edu	37	1	201869657	201869657	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:201869657G>A	ENST00000367288.4	-	2	730	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	162					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.R162W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCCCTGACCCGGCCCTTGTCA	0.547																																																1	Substitution - Missense(1)	kidney(1)											69	72	71					1																	201869657		2029	4169	6198	SO:0001583	missense	25802			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.484C>T	1.37:g.201869657G>A	ENSP00000356257:p.Arg162Trp		B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096503	0.76870	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.14144	2.53	5.77	2.46	0.29980	.	0.000000	0.36893	N	0.002345	T	0.28797	0.0714	M	0.67953	2.075	0.33876	D	0.635491	D;D	0.76494	0.999;0.999	P;P	0.60886	0.88;0.549	T	0.45731	-0.9241	10	0.72032	D	0.01	-36.2117	11.1399	0.48396	0.0:0.0:0.3997:0.6003	.	111;162	B4E3S9;P29536	.;LMOD1_HUMAN	W	162;162;111	ENSP00000356257:R162W	ENSP00000356257:R162W	R	-	1	2	LMOD1	200136280	0.967000	0.33354	1.000000	0.80357	0.993000	0.82548	0.384000	0.20668	0.702000	0.31825	0.655000	0.94253	CGG		0.547	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			A	201869657	G	A	201869657	3	1	552	1	0	0	0	0	1	0	0	0	8858	1115	39	1	1326	1	LMOD1	1	201869657	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	18692560	201869657	47380964	12	29726											
CNTN2	6900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205035032	205035032	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr1:205035032T>A	ENST00000331830.4	+	14	2095	c.1811T>A	c.(1810-1812)gTc>gAc	p.V604D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	604					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.V604D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAGTCCTGGTCCGAGGTGAG	0.627																																					Melanoma(183;2548 2817 37099 41192)											1	Substitution - Missense(1)	kidney(1)											75	69	71					1																	205035032		2203	4300	6503	SO:0001583	missense	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1811T>A	1.37:g.205035032T>A	ENSP00000330633:p.Val604Asp		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	T	30	5.057102	0.93846	.	.	ENSG00000184144	ENST00000331830	T	0.61392	0.11	5.75	5.75	0.90469	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.135312	0.33199	N	0.005177	D	0.83852	0.5344	H	0.96996	3.92	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72075	0.976;0.976	D	0.89415	0.3706	10	0.87932	D	0	.	15.7012	0.77544	0.0:0.0:0.0:1.0	.	604;495	Q02246;Q68DA2	CNTN2_HUMAN;.	D	604	ENSP00000330633:V604D	ENSP00000330633:V604D	V	+	2	0	CNTN2	203301655	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.181000	0.77682	2.194000	0.70268	0.482000	0.46254	GTC		0.627	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		A	205035032	T	A	205035032	3	1	552	1	0	0	0	0	1	0	0	0	3643	1667	58	5	1861	5	CNTN2	1	205035032	Missense_Mutation	SNP	T	TCGA-CJ-6027-01A-11D-1669-08	3165375	205035032	44215589	13	29727											
KLF11	8462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	10186515	10186515	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr2:10186515T>C	ENST00000305883.1	+	2	443	c.281T>C	c.(280-282)cTa>cCa	p.L94P	KLF11_ENST00000535335.1_Missense_Mutation_p.L77P|KLF11_ENST00000540845.1_Missense_Mutation_p.L77P	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	94					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L94P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		ACACCTGAACTACCAAAAGAC	0.502																																					Melanoma(56;431 1507 23687 50789)											1	Substitution - Missense(1)	kidney(1)											97	89	92					2																	10186515		2203	4300	6503	SO:0001583	missense	8462			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11811	protein-coding gene	gene with protein product		603301	"TGFB inducible early growth response 2"	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.281T>C	2.37:g.10186515T>C	ENSP00000307023:p.Leu94Pro		B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423404	0.62733	.	.	ENSG00000172059	ENST00000401510;ENST00000305883;ENST00000448523;ENST00000540845;ENST00000440320;ENST00000535335	T;T;T;T;T;T	0.65178	-0.09;2.52;-0.14;2.51;-0.09;2.51	5.4	4.22	0.49857	.	0.541252	0.19495	N	0.112882	T	0.60818	0.2298	M	0.71581	2.175	0.58432	D	0.999999	B	0.26195	0.144	B	0.21546	0.035	T	0.60172	-0.7315	10	0.72032	D	0.01	.	11.5665	0.50809	0.1341:0.0:0.0:0.8659	.	94	O14901	KLF11_HUMAN	P	77;94;77;77;77;77	ENSP00000386058:L77P;ENSP00000307023:L94P;ENSP00000387866:L77P;ENSP00000444690:L77P;ENSP00000388263:L77P;ENSP00000442722:L77P	ENSP00000307023:L94P	L	+	2	0	KLF11	10103966	0.573000	0.26676	0.997000	0.53966	0.706000	0.40770	2.785000	0.47782	0.845000	0.35118	0.379000	0.24179	CTA		0.502	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		C	10186515	T	C	10186515	3	2	552	1	0	0	0	0	1	0	0	0	8341	1522	53	3	287	3	KLF11	2	10186515	Missense_Mutation	SNP	T	TCGA-CJ-6027-01A-11D-1669-08		10186515	233012858	14	29728											
KHK	3795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27317803	27317803	+	Intron	SNP	G	G	A	rs200086908		TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr2:27317803G>A	ENST00000260599.6	+	3	857				KHK_ENST00000260598.5_Splice_Site|KHK_ENST00000490823.1_Intron	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCATGACACGTAAGGCCCCC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17742	0.0		0.0	False		,,,				2504	0.0															1	Unknown(1)	kidney(1)											76	69	71					2																	27317803		2203	4300	6503	SO:0001627	intron_variant	3795				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.344+324G>A	2.37:g.27317803G>A			Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Splice_Site	SNP	ENST00000260599.6	37	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135130	0.77662	.	.	ENSG00000138030	ENST00000260598;ENST00000429697	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5908	0.68362	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KHK	27171307	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.327000	0.90012	2.605000	0.88082	0.561000	0.74099	.		0.607	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			A	27317803	G	A	27317803	1	1	552	0	1	0	0	0	0	0	0	0	8151	1159	40	1		1	KHK	2	27317803	Intron	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	17131288	27317803	215881570	15	29729											
ABCG8	64241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44073354	44073354	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr2:44073354A>G	ENST00000272286.2	+	3	316	c.226A>G	c.(226-228)Aca>Gca	p.T76A		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	76	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.T76A(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GATGCCCTGGACATCTCCCAG	0.537																																																1	Substitution - Missense(1)	kidney(1)											65	64	64					2																	44073354		2203	4300	6503	SO:0001583	missense	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.226A>G	2.37:g.44073354A>G	ENSP00000272286:p.Thr76Ala		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	A	0.451	-0.893887	0.02491	.	.	ENSG00000143921	ENST00000272286	D	0.87650	-2.28	5.69	-3.18	0.05186	ABC transporter-like (1);	1.501700	0.03375	N	0.199515	T	0.66742	0.2820	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.60332	-0.7284	10	0.07644	T	0.81	.	0.4146	0.00447	0.3224:0.2144:0.2522:0.211	.	76;76	Q9H221-2;Q9H221	.;ABCG8_HUMAN	A	76	ENSP00000272286:T76A	ENSP00000272286:T76A	T	+	1	0	ABCG8	43926858	0.009000	0.17119	0.022000	0.16811	0.155000	0.21991	0.127000	0.15790	-0.429000	0.07329	0.528000	0.53228	ACA		0.537	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		G	44073354	A	G	44073354	3	3	552	1	0	0	0	0	1	0	0	0	72	275	10	3	236	3	ABCG8	2	44073354	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08	16755551	44073354	199126019	16	29730											
NBEAL1	65065	broad.mit.edu;ucsc.edu	37	2	204045216	204045217	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr2:204045216_204045217delGT	ENST00000449802.1	+	42	6822_6823	c.6489_6490delGT	c.(6487-6492)gagtttfs	p.EF2163fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2163	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATTTCCCAGAGTTTTTGGAAAA	0.356																																																0																																										SO:0001589	frameshift_variant	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6489_6490delGT	2.37:g.204045216_204045217delGT	ENSP00000399903:p.Glu2163fs		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Del	DEL	ENST00000449802.1	37	CCDS46495.1																																																																																				0.356	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			-	204045217	GT	-	204045216	7	5	552	1	0	1	0	1	0	0	0	0	10190	1020	36	0	6651	0	NBEAL1	2	204045216	Frame_Shift_Del	DEL	GT	TCGA-CJ-6027-01A-11D-1669-08	159971862	204045216	39154157	17	29731											
SMARCAL1	50485	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	217342998	217342998	+	Silent	SNP	A	A	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr2:217342998A>G	ENST00000357276.4	+	17	2931	c.2601A>G	c.(2599-2601)acA>acG	p.T867T	AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Silent_p.T867T	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	867	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.T867T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGAAATGACAGAATCCACTG	0.488									Schimke Immuno-Osseous Dysplasia																																							1	Substitution - coding silent(1)	kidney(1)											100	106	104					2																	217342998		2203	4300	6503	SO:0001819	synonymous_variant	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2601A>G	2.37:g.217342998A>G			A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	CCDS2403.1																																																																																				0.488	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			G	217342998	A	G	217342998	2	3	552	1	0	0	0	0	0	0	0	1	14779	175	7	3		3	SMARCAL1	2	217342998	Silent	SNP	A	TCGA-CJ-6027-01A-11D-1669-08	13297782	217342998	25856375	18	29732											
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	C	rs5030807		TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr3:10183797T>C	ENST00000256474.2	+	1	1106	c.266T>C	c.(265-267)cTc>cCc	p.L89P	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.L89P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13	16	15					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>C	3.37:g.10183797T>C	ENSP00000256474:p.Leu89Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777209	0.90195	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99563	0.9843	L	0.41492	1.28	0.54753	D	0.999989	D;D	0.76494	0.998;0.999	D;D	0.71656	0.962;0.974	D	0.97591	1.0117	10	0.72032	D	0.01	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	rs5030807	89;89	P40337-2;P40337	.;VHL_HUMAN	P	89	ENSP00000256474:L89P;ENSP00000344757:L89P	ENSP00000256474:L89P	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10183797	T	C	10183797	3	2	552	1	0	0	0	0	1	0	0	0	17167	1551	54	3	268	3	VHL	3	10183797	Missense_Mutation	SNP	T	TCGA-CJ-6027-01A-11D-1669-08		10183797	187838633	19	29733											
GATA2	2624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128200752	128200753	+	Frame_Shift_Ins	INS	-	-	T	rs544866789		TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr3:128200752_128200753insT	ENST00000341105.2	-	5	1383_1384	c.1052_1053insA	c.(1051-1053)aatfs	p.N351fs	GATA2_ENST00000430265.2_Intron|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Frame_Shift_Ins_p.N351fs	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	351					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TCGTCTGACAATTTGCACAACA	0.639			Mis		AML(CML blast transformation)																																		Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0																																										SO:0001589	frameshift_variant	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1053dupA	3.37:g.128200755_128200755dupT	ENSP00000345681:p.Asn351fs		D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Frame_Shift_Ins	INS	ENST00000341105.2	37	CCDS3049.1																																																																																				0.639	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		T	128200753	-	T	128200752	7	5	552	1	0	1	1	0	0	0	0	0	6256	98	4	0	397	0	GATA2	3	128200752	Frame_Shift_Ins	INS	-	TCGA-CJ-6027-01A-11D-1669-08	118016955	128200752	69821678	20	29734											
APBB2	323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	41015685	41015685	+	Silent	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr4:41015685G>A	ENST00000295974.8	-	6	1379	c.750C>T	c.(748-750)atC>atT	p.I250I	APBB2_ENST00000506352.1_Silent_p.I250I|APBB2_ENST00000513140.1_Silent_p.I250I|APBB2_ENST00000508593.1_Silent_p.I250I	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	250					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.I250I(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCAGGTTCTGGATCCGGTGCA	0.587																																					Ovarian(3;20 75 16686 49997)											1	Substitution - coding silent(1)	kidney(1)											287	284	285					4																	41015685		2067	4208	6275	SO:0001819	synonymous_variant	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.750C>T	4.37:g.41015685G>A			B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	G	1.481	-0.557098	0.03967	.	.	ENSG00000163697	ENST00000513611	.	.	.	6.04	3.38	0.38709	.	.	.	.	.	T	0.57460	0.2055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54497	-0.8285	4	.	.	.	-28.7821	8.7964	0.34883	0.2811:0.0:0.7189:0.0	.	.	.	.	S	240	.	.	P	-	1	0	APBB2	40710442	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	3.113000	0.50376	1.578000	0.49821	-0.253000	0.11424	CCA		0.587	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		A	41015685	G	A	41015685	2	1	552	1	0	0	0	0	0	0	0	1	761	1164	41	2		2	APBB2	4	41015685	Silent	SNP	G	TCGA-CJ-6027-01A-11D-1669-08		41015685	150138591	21	29735											
GABRB1	2560	hgsc.bcm.edu;ucsc.edu	37	4	47408773	47408774	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr4:47408773_47408774delAA	ENST00000295454.3	+	8	1202_1203	c.910_911delAA	c.(910-912)aaafs	p.K304fs	GABRB1_ENST00000538619.1_Frame_Shift_Del_p.K234fs	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	304	Allosteric effector binding. {ECO:0000250}.				cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCCTTATGTCAAAGCGATTGAT	0.45																																																0																																										SO:0001589	frameshift_variant	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.910_911delAA	4.37:g.47408773_47408774delAA	ENSP00000295454:p.Lys304fs		B2R6U7|D6REL3|Q16166|Q8TBK3	Frame_Shift_Del	DEL	ENST00000295454.3	37	CCDS3474.1																																																																																				0.45	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			-	47408774	AA	-	47408773	7	5	552	1	0	1	0	1	0	0	0	0	6168	131	5	0	940	0	GABRB1	4	47408773	Frame_Shift_Del	DEL	AA	TCGA-CJ-6027-01A-11D-1669-08	6393088	47408773	143745503	22	29736											
SCARB2	950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77084506	77084506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr4:77084506G>A	ENST00000264896.2	-	11	1619	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	SCARB2_ENST00000452464.2_Nonsense_Mutation_p.R281*	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	424					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)	p.R424*(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GACTTCAGTCGACTCGCCGTC	0.403																																																1	Substitution - Nonsense(1)	kidney(1)											224	194	204					4																	77084506		2203	4300	6503	SO:0001587	stop_gained	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1270C>T	4.37:g.77084506G>A	ENSP00000264896:p.Arg424*		B4DKD8|E7EM68|Q53Y63	Nonsense_Mutation	SNP	ENST00000264896.2	37	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	36	5.764607	0.96906	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	.	.	.	5.87	4.95	0.65309	.	0.206931	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	10.7923	0.46440	0.0:0.0:0.7251:0.2749	.	.	.	.	X	424;281	.	ENSP00000264896:R424X	R	-	1	2	SCARB2	77303530	0.370000	0.25047	0.243000	0.24186	0.273000	0.26683	3.552000	0.53705	2.780000	0.95670	0.655000	0.94253	CGA		0.403	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		A	77084506	G	A	77084506	4	1	552	1	0	0	0	0	0	1	0	0	13888	1066	37	1	174	1	SCARB2	4	77084506	Nonsense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	29675733	77084506	114069770	23	29737											
GPRIN3	285513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	90170546	90170546	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr4:90170546G>T	ENST00000609438.1	-	2	1234	c.716C>A	c.(715-717)aCt>aAt	p.T239N	GPRIN3_ENST00000333209.4_Missense_Mutation_p.T239N	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	239								p.T239N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AGATTCTCTAGTTAGAGGTTT	0.552																																																1	Substitution - Missense(1)	kidney(1)											50	55	53					4																	90170546		2203	4300	6503	SO:0001583	missense	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.716C>A	4.37:g.90170546G>T	ENSP00000476603:p.Thr239Asn		Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	9.978	1.227470	0.22542	.	.	ENSG00000185477	ENST00000333209	T	0.10860	2.83	4.93	0.83	0.18854	.	0.807286	0.10088	N	0.717539	T	0.05181	0.0138	N	0.14661	0.345	0.09310	N	1	B	0.18968	0.032	B	0.15870	0.014	T	0.41840	-0.9486	10	0.33940	T	0.23	0.635	1.468	0.02410	0.1827:0.1254:0.4522:0.2398	.	239	Q6ZVF9	GRIN3_HUMAN	N	239	ENSP00000328672:T239N	ENSP00000328672:T239N	T	-	2	0	GPRIN3	90389569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.754000	0.26390	0.311000	0.23014	-0.142000	0.14014	ACT		0.552	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		T	90170546	G	T	90170546	3	4	552	1	0	0	0	0	1	0	0	0	6733	1029	36	4	1618	4	GPRIN3	4	90170546	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	13086040	90170546	100983730	24	29738											
HHIP	64399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	145635414	145635414	+	Silent	SNP	T	T	C			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr4:145635414T>C	ENST00000296575.3	+	9	2116	c.1461T>C	c.(1459-1461)agT>agC	p.S487S		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	487					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.S487S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGCCATTCAGTAATGGTCCTT	0.383																																																1	Substitution - coding silent(1)	kidney(1)											127	116	120					4																	145635414		2203	4300	6503	SO:0001819	synonymous_variant	64399			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1461T>C	4.37:g.145635414T>C			Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	37	CCDS3762.1																																																																																				0.383	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			C	145635414	T	C	145635414	2	2	552	1	0	0	0	0	0	0	0	1	7094	1635	57	3		3	HHIP	4	145635414	Silent	SNP	T	TCGA-CJ-6027-01A-11D-1669-08	55464868	145635414	45518862	25	29739											
FNIP2	57600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	159790324	159790324	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr4:159790324G>A	ENST00000264433.6	+	13	2611	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	FNIP2_ENST00000379346.3_Missense_Mutation_p.E869K	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	846	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E846K(1)|p.E172K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GAAGGCTGCGGAAGGACCTGT	0.642																																																2	Substitution - Missense(2)	kidney(2)											54	58	57					4																	159790324		2067	4225	6292	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2536G>A	4.37:g.159790324G>A	ENSP00000264433:p.Glu846Lys		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	G	6.499	0.460349	0.12342	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.21543	2.01;2.0	4.79	1.09	0.20402	.	1.031530	0.07604	N	0.924210	T	0.12050	0.0293	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.37502	-0.9703	9	.	.	.	.	9.7097	0.40238	0.3043:0.0:0.6957:0.0	.	846	Q9P278	FNIP2_HUMAN	K	846;869	ENSP00000264433:E846K;ENSP00000368651:E869K	.	E	+	1	0	FNIP2	160009774	0.022000	0.18835	0.000000	0.03702	0.022000	0.10575	1.789000	0.38724	0.311000	0.23014	0.655000	0.94253	GAA		0.642	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		A	159790324	G	A	159790324	3	1	552	1	0	0	0	0	1	0	0	0	5978	1175	41	2	2586	2	FNIP2	4	159790324	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	14154910	159790324	31363952	26	29740											
C4orf41	60684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	184618916	184618916	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr4:184618916A>G	ENST00000334690.6	+	25	2981	c.2779A>G	c.(2779-2781)Att>Gtt	p.I927V	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.I533V|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.I927V	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	927					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.I927V(1)									GGCCCTCACTATTGTTTCCAG	0.498																																																1	Substitution - Missense(1)	kidney(1)											101	92	95					4																	184618916		2203	4300	6503	SO:0001583	missense	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2779A>G	4.37:g.184618916A>G	ENSP00000335371:p.Ile927Val		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	A	4.374	0.068875	0.08436	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.54	-2.9	0.05648	.	0.267042	0.38436	N	0.001690	T	0.22360	0.0539	L	0.28115	0.83	0.09310	N	1	B;B;B;B	0.18863	0.003;0.001;0.001;0.031	B;B;B;B	0.20184	0.009;0.002;0.005;0.028	T	0.24119	-1.0169	9	0.16896	T	0.51	.	8.7353	0.34525	0.6035:0.0964:0.3002:0.0	.	658;533;927;927	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	V	927;927;927;533	.	ENSP00000335371:I927V	I	+	1	0	C4orf41	184855910	0.258000	0.24033	0.000000	0.03702	0.220000	0.24768	0.948000	0.29096	-0.350000	0.08262	-1.139000	0.01908	ATT		0.498	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		G	184618916	A	G	184618916	3	3	552	1	0	0	0	0	1	0	0	0	2272	449	16	3	2873	3	C4orf41	4	184618916	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08	24828592	184618916	6535360	27	29741											
ZFR	51663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32390443	32390443	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr5:32390443G>C	ENST00000265069.8	-	12	2182	c.2080C>G	c.(2080-2082)Cca>Gca	p.P694A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	694					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P694A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AATGGGCCTGGAGGACCATGA	0.542																																																1	Substitution - Missense(1)	kidney(1)											137	130	132					5																	32390443		2203	4300	6503	SO:0001583	missense	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2080C>G	5.37:g.32390443G>C	ENSP00000265069:p.Pro694Ala		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535325	0.64972	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.07021	3.23	5.28	5.28	0.74379	.	0.109289	0.64402	D	0.000006	T	0.30792	0.0776	M	0.78049	2.395	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.01480	-1.1344	10	0.41790	T	0.15	.	18.907	0.92466	0.0:0.0:1.0:0.0	.	694	Q96KR1	ZFR_HUMAN	A	694;672	ENSP00000265069:P694A	ENSP00000265069:P694A	P	-	1	0	ZFR	32426200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.170000	0.94795	2.463000	0.83235	0.561000	0.74099	CCA		0.542	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			C	32390443	G	C	32390443	3	2	552	1	0	0	0	0	1	0	0	0	17664	1174	41	4	1180	4	ZFR	5	32390443	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08		32390443	148524817	28	29742											
RASGRF2	5924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	80508333	80508333	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr5:80508333G>A	ENST00000265080.4	+	23	3372	c.3305G>A	c.(3304-3306)aGa>aAa	p.R1102K	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1102	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.|Responsible of the affinity for farnesylated versus geranylgeranylated Ras. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1102K(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCCTTAAACAGAAGTGCCATC	0.582																																																1	Substitution - Missense(1)	kidney(1)											49	46	47					5																	80508333		2203	4300	6503	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3305G>A	5.37:g.80508333G>A	ENSP00000265080:p.Arg1102Lys		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	35	5.456851	0.96223	.	.	ENSG00000113319	ENST00000265080	T	0.29142	1.58	5.74	5.74	0.90152	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	N	0.20881	0.62	0.58432	D	0.999998	P	0.35944	0.529	B	0.43155	0.41	T	0.09640	-1.0665	10	0.59425	D	0.04	.	19.5211	0.95185	0.0:0.0:1.0:0.0	.	1102	O14827	RGRF2_HUMAN	K	1102	ENSP00000265080:R1102K	ENSP00000265080:R1102K	R	+	2	0	RASGRF2	80544089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.707000	0.92482	0.655000	0.94253	AGA		0.582	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		A	80508333	G	A	80508333	3	1	552	1	0	0	0	0	1	0	0	0	13079	942	33	2	3395	2	RASGRF2	5	80508333	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	48117890	80508333	100406927	29	29743											
PPIP5K2	23262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	102502993	102502993	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr5:102502993C>G	ENST00000358359.3	+	18	2540	c.2031C>G	c.(2029-2031)atC>atG	p.I677M	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.I677M|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.I677M|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	677					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.I677M(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTTCTCAAATCAGACATCGAA	0.289																																																1	Substitution - Missense(1)	kidney(1)											75	81	79					5																	102502993		2202	4293	6495	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2031C>G	5.37:g.102502993C>G	ENSP00000351126:p.Ile677Met		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	C	15.89	2.965458	0.53507	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.35048	1.33;1.33;1.33	5.43	2.53	0.30540	.	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	L	0.33245	0.995	0.47441	D	0.999423	B;D	0.67145	0.318;0.996	B;D	0.72982	0.321;0.979	T	0.29274	-1.0017	10	0.87932	D	0	.	9.4302	0.38606	0.0:0.6465:0.0:0.3535	.	677;677	O43314-2;O43314	.;VIP2_HUMAN	M	677	ENSP00000313070:I677M;ENSP00000351126:I677M;ENSP00000416016:I677M	ENSP00000313070:I677M	I	+	3	3	PPIP5K2	102530892	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.792000	0.26929	0.199000	0.20427	0.460000	0.39030	ATC		0.289	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		G	102502993	C	G	102502993	3	3	552	1	0	0	0	0	1	0	0	0	12338	816	29	4	2097	4	PPIP5K2	5	102502993	Missense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	21994660	102502993	78412267	30	29744											
SLC22A4	6583	broad.mit.edu	37	5	131630693	131630693	+	Silent	SNP	C	C	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr5:131630693C>T	ENST00000200652.3	+	1	558	c.384C>T	c.(382-384)gtC>gtT	p.V128V	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	128					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.V128V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	TGTCCACCGTCGTGACCGAGG	0.701																																																1	Substitution - coding silent(1)	kidney(1)											15	19	18					5																	131630693		2187	4269	6456	SO:0001819	synonymous_variant	6583			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.384C>T	5.37:g.131630693C>T			O14546	Silent	SNP	ENST00000200652.3	37	CCDS4153.1																																																																																				0.701	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		T	131630693	C	T	131630693	2	4	552	1	0	0	0	0	0	0	0	1	14462	871	31	1		1	SLC22A4	5	131630693	Silent	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	29127700	131630693	49284567	31	29745											
CDC23	8697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137542357	137542357	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr5:137542357A>G	ENST00000394886.2	-	3	281	c.251T>C	c.(250-252)aTg>aCg	p.M84T	CDC23_ENST00000394884.3_Missense_Mutation_p.M84T|CDC23_ENST00000505120.1_Missense_Mutation_p.W83R	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	84					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.M78T(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATAGGCATCCATATCCTGGGC	0.398																																																1	Substitution - Missense(1)	kidney(1)											78	75	76					5																	137542357		2203	4300	6503	SO:0001583	missense	8697			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.251T>C	5.37:g.137542357A>G	ENSP00000378350:p.Met84Thr		A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	CCDS4200.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.84|13.84	2.358226|2.358226	0.41801|0.41801	.|.	.|.	ENSG00000094880|ENSG00000094880	ENST00000394886;ENST00000394884|ENST00000505120	T;T|T	0.39592|0.36520	1.07;1.07|1.25	5.95|5.95	5.95|5.95	0.96441|0.96441	Cdc23 (1);|.	0.172404|.	0.53938|.	D|.	0.000055|.	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.01576|0.01576	-0.805|-0.805	0.34222|0.34222	D|D	0.675582|0.675582	B;B|.	0.32467|.	0.372;0.001|.	B;B|.	0.27796|.	0.083;0.001|.	T|T	0.50083|0.50083	-0.8869|-0.8869	10|7	0.16420|0.72032	T|D	0.52|0.01	-14.8056|-14.8056	16.4116|16.4116	0.83717|0.83717	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	84;84|.	Q9UJX2-2;Q9UJX2|.	.;CDC23_HUMAN|.	T|R	84|83	ENSP00000378350:M84T;ENSP00000378348:M84T|ENSP00000423704:W83R	ENSP00000378348:M84T|ENSP00000422505:W60R	M|W	-|-	2|1	0|0	CDC23|CDC23	137570256|137570256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.220000|9.220000	0.95180|0.95180	2.276000|2.276000	0.75962|0.75962	0.528000|0.528000	0.53228|0.53228	ATG|TGG		0.398	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			G	137542357	A	G	137542357	3	3	552	1	0	0	0	0	1	0	0	0	3063	217	8	3	1598	3	CDC23	5	137542357	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08	5911664	137542357	43372903	32	29746											
PCDHGB1	56104	broad.mit.edu;ucsc.edu	37	5	140732064	140732064	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr5:140732064A>C	ENST00000523390.1	+	1	2237	c.2237A>C	c.(2236-2238)tAt>tCt	p.Y746S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_5'Flank	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	746					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y746S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGCCCTATTCCTACAAT	0.537																																																1	Substitution - Missense(1)	kidney(1)											98	98	98					5																	140732064		1968	4152	6120	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2237A>C	5.37:g.140732064A>C	ENSP00000429273:p.Tyr746Ser		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.025902	0.35701	.	.	ENSG00000254221	ENST00000523390	T	0.52057	0.68	5.25	2.8	0.32819	.	.	.	.	.	T	0.73024	0.3534	H	0.94264	3.515	0.23563	N	0.997402	D;D	0.71674	0.995;0.998	D;D	0.74674	0.984;0.951	T	0.62334	-0.6876	9	0.87932	D	0	.	7.2942	0.26383	0.799:0.0:0.0718:0.1291	.	746;746	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	S	746	ENSP00000429273:Y746S	ENSP00000429273:Y746S	Y	+	2	0	PCDHGB1	140712248	0.047000	0.20315	0.597000	0.28824	0.005000	0.04900	1.460000	0.35244	0.372000	0.24591	0.533000	0.62120	TAT		0.537	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		C	140732064	A	C	140732064	3	2	552	1	0	0	0	0	1	0	0	0	11564	449	16	5	2239	5	PCDHGB1	5	140732064	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08	3189707	140732064	40183196	33	29747											
NEDD9	4739	broad.mit.edu;ucsc.edu	37	6	11213548	11213548	+	Missense_Mutation	SNP	A	A	G	rs111447705		TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr6:11213548A>G	ENST00000379446.5	-	2	591	c.425T>C	c.(424-426)aTt>aCt	p.I142T	NEDD9_ENST00000379433.5_Missense_Mutation_p.I142T|RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.I142T	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	142	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.I142T(3)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GGTTCCCCCAATGCTTCTCTG	0.458																																																3	Substitution - Missense(3)	kidney(3)						A	THR/ILE,THR/ILE,THR/ILE	0,4406		0,0,2203	95	91	92		425,425,425	-0.7	0.2	6	dbSNP_132	92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NEDD9	NM_001142393.1,NM_006403.3,NM_182966.3	89,89,89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	142/835,142/835,142/175	11213548	1,13005	2203	4300	6503	SO:0001583	missense	4739			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.425T>C	6.37:g.11213548A>G	ENSP00000368759:p.Ile142Thr		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	A	7.651	0.682873	0.14907	0.0	1.16E-4	ENSG00000111859	ENST00000379446;ENST00000504387;ENST00000379433	T;T;T	0.63096	1.08;1.19;-0.02	5.75	-0.682	0.11339	.	1.194830	0.05766	N	0.605757	T	0.29882	0.0747	L	0.47716	1.5	0.19575	N	0.999967	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.23404	-1.0189	10	0.17832	T	0.49	-0.5798	9.9801	0.41809	0.6724:0.0:0.3276:0.0	.	142;142;142	G5E9Y9;Q5XKI0;Q14511	.;.;CASL_HUMAN	T	142	ENSP00000368759:I142T;ENSP00000422871:I142T;ENSP00000368745:I142T	ENSP00000368745:I142T	I	-	2	0	NEDD9	11321534	0.003000	0.15002	0.171000	0.22900	0.861000	0.49209	0.523000	0.22925	-0.337000	0.08426	0.533000	0.62120	ATT		0.458	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		G	11213548	A	G	11213548	3	3	552	1	0	0	0	0	1	0	0	0	10315	101	4	3	2173	3	NEDD9	6	11213548	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08		11213548	159901519	34	29748											
BRPF3	27154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36177669	36177669	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr6:36177669G>A	ENST00000357641.6	+	5	2096	c.1843G>A	c.(1843-1845)Gca>Aca	p.A615T	BRPF3_ENST00000443324.2_Missense_Mutation_p.A615T|BRPF3_ENST00000534400.1_Missense_Mutation_p.A615T|BRPF3_ENST00000339717.7_Missense_Mutation_p.A615T|BRPF3_ENST00000543502.1_Missense_Mutation_p.A615T|BRPF3_ENST00000534694.1_Missense_Mutation_p.A615T	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	615	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.A615T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ACACATCTTCGCAGAACCAGT	0.507																																																1	Substitution - Missense(1)	kidney(1)											84	72	76					6																	36177669		2203	4300	6503	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1843G>A	6.37:g.36177669G>A	ENSP00000350267:p.Ala615Thr		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873173	0.17322	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000394572	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.92	5.04	0.67666	Bromodomain (5);Bromodomain, conserved site (1);	0.098546	0.64402	D	0.000001	T	0.08133	0.0203	L	0.34521	1.04	0.44603	D	0.997578	B;B;B	0.33477	0.009;0.001;0.413	B;B;B	0.19391	0.012;0.004;0.025	T	0.12528	-1.0544	10	0.27785	T	0.31	.	7.6226	0.28193	0.1339:0.0:0.7208:0.1454	.	615;615;615	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	T	615;615;615;615;615;615;29	ENSP00000350267:A615T;ENSP00000345419:A615T;ENSP00000434501:A615T;ENSP00000445352:A615T;ENSP00000387368:A615T;ENSP00000436504:A615T	ENSP00000345419:A615T	A	+	1	0	BRPF3	36285647	0.998000	0.40836	0.185000	0.23176	0.931000	0.56810	2.762000	0.47597	1.471000	0.48121	-0.274000	0.10170	GCA		0.507	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		A	36177669	G	A	36177669	3	1	552	1	0	0	0	0	1	0	0	0	1523	1087	38	1	1857	1	BRPF3	6	36177669	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	24964121	36177669	134937398	35	29749											
AVL9	23080	hgsc.bcm.edu;ucsc.edu	37	7	32584314	32584314	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr7:32584314delT	ENST00000318709.4	+	3	444	c.223delT	c.(223-225)tttfs	p.F76fs	AVL9_ENST00000409301.1_Frame_Shift_Del_p.F76fs|AVL9_ENST00000404479.1_Frame_Shift_Del_p.F76fs	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	76					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGATACTGTGTTTTTTCACTT	0.333																																																0													95	91	93					7																	32584314		2203	4300	6503	SO:0001589	frameshift_variant	23080			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.223delT	7.37:g.32584314delT	ENSP00000315568:p.Phe76fs		Q92573	Frame_Shift_Del	DEL	ENST00000318709.4	37	CCDS34613.1																																																																																				0.333	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		-	32584314	T	-	32584314	7	5	552	1	0	1	0	1	0	0	0	0	1228	1725	60	0	233	0	AVL9	7	32584314	Frame_Shift_Del	DEL	T	TCGA-CJ-6027-01A-11D-1669-08		32584314	126554349	36	29750											
DPY19L1	23333	broad.mit.edu;ucsc.edu	37	7	35057549	35057549	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr7:35057549C>G	ENST00000310974.4	-	3	281	c.137G>C	c.(136-138)cGt>cCt	p.R46P		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	46						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R46P(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AGAAAAATGACGGTCATTTTC	0.323																																																1	Substitution - Missense(1)	kidney(1)											79	79	79					7																	35057549		1953	4196	6149	SO:0001583	missense	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.137G>C	7.37:g.35057549C>G	ENSP00000308695:p.Arg46Pro		O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165958	0.78339	.	.	ENSG00000173852	ENST00000310974	T	0.57273	0.41	5.17	4.29	0.51040	.	0.000000	0.64402	U	0.000001	T	0.70090	0.3184	M	0.77820	2.39	0.53688	D	0.999976	D	0.71674	0.998	D	0.67382	0.951	T	0.72334	-0.4325	10	0.45353	T	0.12	-10.4194	13.4011	0.60883	0.0:0.9236:0.0:0.0764	.	46	Q2PZI1	D19L1_HUMAN	P	46	ENSP00000308695:R46P	ENSP00000308695:R46P	R	-	2	0	DPY19L1	35024074	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.569000	0.67391	1.336000	0.45506	-0.198000	0.12761	CGT		0.323	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			G	35057549	C	G	35057549	3	3	552	1	0	0	0	0	1	0	0	0	4742	536	19	4	1970	4	DPY19L1	7	35057549	Missense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	2473235	35057549	124081114	37	29751											
PKD1L1	168507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	47873983	47873983	+	Splice_Site	SNP	C	C	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr7:47873983C>A	ENST00000289672.2	-	40	6178	c.6128G>T	c.(6127-6129)gGt>gTt	p.G2043V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2043					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.G2043V(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAATTAGGACCTGATTCAAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											100	91	94					7																	47873983		2203	4300	6503	SO:0001630	splice_region_variant	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6128-1G>T	7.37:g.47873983C>A			Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	5.544	0.285267	0.10513	.	.	ENSG00000158683	ENST00000289672	T	0.19532	2.14	3.93	-0.263	0.12954	.	367.945000	0.00166	N	0.000000	T	0.19005	0.0456	L	0.54323	1.7	0.30650	N	0.755531	B	0.19331	0.035	B	0.12837	0.008	T	0.14309	-1.0477	10	0.26408	T	0.33	.	1.6496	0.02769	0.1647:0.4758:0.1605:0.199	.	2043	Q8TDX9	PK1L1_HUMAN	V	2043	ENSP00000289672:G2043V	ENSP00000289672:G2043V	G	-	2	0	PKD1L1	47840508	0.020000	0.18652	0.009000	0.14445	0.005000	0.04900	-0.214000	0.09292	-0.182000	0.10602	-0.263000	0.10527	GGT		0.408	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	Missense_Mutation	A	47873983	C	A	47873983	5	1	552	1	0	0	0	0	0	0	1	0	11966	521	18	4	2493	4	PKD1L1	7	47873983	Splice_Site	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	12816434	47873983	111264680	38	29752											
PAX4	5078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127252031	127252031	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr7:127252031G>T	ENST00000341640.2	-	7	920	c.715C>A	c.(715-717)Cca>Aca	p.P239T	PAX4_ENST00000378740.2_Missense_Mutation_p.P239T|PAX4_ENST00000338516.3_Intron|PAX4_ENST00000463946.1_Missense_Mutation_p.P237T	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	247					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.P239T(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCAACCCTTGGTACAGTCAGC	0.557																																					Ovarian(113;737 1605 7858 27720 34092)											1	Substitution - Missense(1)	kidney(1)											65	59	61					7																	127252031		2203	4300	6503	SO:0001583	missense	5078				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.715C>A	7.37:g.127252031G>T	ENSP00000339906:p.Pro239Thr		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447401	0.25987	.	.	ENSG00000106331	ENST00000341640;ENST00000378740;ENST00000463946	D;D	0.94376	-3.41;-3.28	5.27	-1.23	0.09465	.	2.240520	0.02303	N	0.071367	D	0.90549	0.7038	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.22541	0.013;0.002;0.001;0.071	B;B;B;B	0.23852	0.015;0.002;0.001;0.049	T	0.76405	-0.2971	10	0.45353	T	0.12	.	5.5348	0.17005	0.2565:0.4321:0.3114:0.0	.	239;237;247;237	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	T	239;247;237	ENSP00000339906:P239T;ENSP00000451923:P237T	ENSP00000339906:P239T	P	-	1	0	PAX4	127039267	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.035000	0.13797	0.046000	0.15833	-0.123000	0.14984	CCA		0.557	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			T	127252031	G	T	127252031	3	4	552	1	0	0	0	0	1	0	0	0	11483	1261	44	4	328	4	PAX4	7	127252031	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	79378048	127252031	31886632	39	29753											
PLEC	5339	broad.mit.edu;hgsc.bcm.edu	37	8	144999885	144999885	+	Silent	SNP	C	C	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr8:144999885C>G	ENST00000322810.4	-	31	4792	c.4623G>C	c.(4621-4623)cgG>cgC	p.R1541R	PLEC_ENST00000527096.1_Silent_p.R1427R|PLEC_ENST00000354958.2_Silent_p.R1382R|PLEC_ENST00000354589.3_Silent_p.R1404R|PLEC_ENST00000357649.2_Silent_p.R1408R|PLEC_ENST00000345136.3_Silent_p.R1404R|PLEC_ENST00000356346.3_Silent_p.R1390R|PLEC_ENST00000436759.2_Silent_p.R1431R|PLEC_ENST00000398774.2_Silent_p.R1372R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1541	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.R1541R(1)|p.R1404R(1)|p.R1431R(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGCCTCCTCCCGCCGCACCA	0.716																																																3	Substitution - coding silent(3)	kidney(3)											8	10	9					8																	144999885		1995	4014	6009	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4623G>C	8.37:g.144999885C>G			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		G	144999885	C	G	144999885	2	3	552	1	0	0	0	0	0	0	0	1	12054	610	22	4		4	PLEC	8	144999885	Silent	SNP	C	TCGA-CJ-6027-01A-11D-1669-08		144999885	1364137	40	29754											
IARS	3376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95021264	95021264	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr9:95021264A>T	ENST00000375643.3	-	19	2154	c.1888T>A	c.(1888-1890)Tcc>Acc	p.S630T	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.S630T|IARS_ENST00000447699.2_Missense_Mutation_p.S520T	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	630					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.S630T(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACCACAGGGGAGTTAATCAGA	0.423																																																1	Substitution - Missense(1)	kidney(1)											63	60	61					9																	95021264		2203	4300	6503	SO:0001583	missense	3376			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1888T>A	9.37:g.95021264A>T	ENSP00000364794:p.Ser630Thr		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945663	0.92593	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.36520	1.25;1.25;1.25	5.45	5.45	0.79879	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68557	-0.5377	10	0.87932	D	0	-15.2477	15.1695	0.72858	1.0:0.0:0.0:0.0	.	630;475	P41252;Q6P0M4	SYIC_HUMAN;.	T	630;630;520;630	ENSP00000364794:S630T;ENSP00000406448:S630T;ENSP00000415020:S520T	ENSP00000364794:S630T	S	-	1	0	IARS	94061085	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.106000	0.77039	2.072000	0.62099	0.459000	0.35465	TCC		0.423	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		T	95021264	A	T	95021264	3	4	552	1	0	0	0	0	1	0	0	0	7475	304	11	5	1964	5	IARS	9	95021264	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08		95021264	46192167	41	29755											
NR4A3	8013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	102590586	102590586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr9:102590586G>T	ENST00000395097.2	+	3	991	c.262G>T	c.(262-264)Gag>Tag	p.E88*	NR4A3_ENST00000338488.4_Nonsense_Mutation_p.E88*|NR4A3_ENST00000330847.1_Nonsense_Mutation_p.E99*	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	88					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.E88*(1)|p.E99*(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAAAGTGGAGGAGGGGCGGGC	0.602			T	EWSR1	extraskeletal myxoid chondrosarcoma																																		Dom	yes		9	9q22	8013	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"		M	2	Substitution - Nonsense(2)	kidney(2)											56	51	53					9																	102590586		2203	4300	6503	SO:0001587	stop_gained	8013			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.262G>T	9.37:g.102590586G>T	ENSP00000378531:p.Glu88*		A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Nonsense_Mutation	SNP	ENST00000395097.2	37	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627173	0.96671	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	.	.	.	5.36	5.36	0.76844	.	2.511850	0.01142	N	0.006233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.4622	0.94921	0.0:0.0:1.0:0.0	.	.	.	.	X	88;88;99	.	ENSP00000333122:E99X	E	+	1	0	NR4A3	101630407	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.900000	0.87376	2.662000	0.90505	0.557000	0.71058	GAG		0.602	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			T	102590586	G	T	102590586	4	4	552	1	0	0	0	0	0	1	0	0	10636	1175	41	4	301	4	NR4A3	9	102590586	Nonsense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	7569322	102590586	38622845	42	29756											
NEBL	10529	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	21124510	21124510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr10:21124510C>A	ENST00000377122.4	-	14	1777	c.1381G>T	c.(1381-1383)Gga>Tga	p.G461*	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	461					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.G461*(2)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTTGCATTCCTTTCCCTTTA	0.448																																																2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)											259	236	244					10																	21124510		2203	4300	6503	SO:0001587	stop_gained	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1381G>T	10.37:g.21124510C>A	ENSP00000366326:p.Gly461*		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Nonsense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	42	9.599904	0.99216	.	.	ENSG00000078114	ENST00000377122	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.0946	0.89485	0.0:1.0:0.0:0.0	.	.	.	.	X	461	.	ENSP00000366326:G461X	G	-	1	0	NEBL	21164516	1.000000	0.71417	0.997000	0.53966	0.848000	0.48234	5.828000	0.69307	2.380000	0.81148	0.505000	0.49811	GGA		0.448	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		A	21124510	C	A	21124510	4	1	552	1	0	0	0	0	0	1	0	0	10305	690	24	4	1723	4	NEBL	10	21124510	Nonsense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08		21124510	114410237	43	29757											
OPN4	94233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	88418429	88418429	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr10:88418429C>A	ENST00000241891.5	+	4	780	c.613C>A	c.(613-615)Ccc>Acc	p.P205T	OPN4_ENST00000372071.2_Missense_Mutation_p.P216T	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	205					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)	p.P216T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GAGTCTGCCACCCTTCTTCGG	0.622																																																1	Substitution - Missense(1)	kidney(1)											52	49	50					10																	88418429		2203	4300	6503	SO:0001583	missense	94233			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.613C>A	10.37:g.88418429C>A	ENSP00000241891:p.Pro205Thr		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711362	0.89112	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.39787	1.06;1.06;1.06	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	H	0.97896	4.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.87441	0.2395	10	0.87932	D	0	.	18.7781	0.91920	0.0:1.0:0.0:0.0	.	216;205;216	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	T	216;205;216	ENSP00000361141:P216T;ENSP00000241891:P205T;ENSP00000393132:P216T	ENSP00000241891:P205T	P	+	1	0	OPN4	88408409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.800000	0.85949	2.434000	0.82447	0.561000	0.74099	CCC		0.622	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		A	88418429	C	A	88418429	3	1	552	1	0	0	0	0	1	0	0	0	10884	507	18	4	664	4	OPN4	10	88418429	Missense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	67293919	88418429	47116318	44	29758											
TECTB	6975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	114053509	114053509	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr10:114053509C>G	ENST00000369422.3	+	5	497	c.497C>G	c.(496-498)tCc>tGc	p.S166C		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	166	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.S166C(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GCCAAGTTCTCCATCAAGAAA	0.468																																																1	Substitution - Missense(1)	kidney(1)											147	138	141					10																	114053509		2203	4300	6503	SO:0001583	missense	6975			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.497C>G	10.37:g.114053509C>G	ENSP00000358430:p.Ser166Cys		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684472	0.68157	.	.	ENSG00000119913	ENST00000369422	D	0.84298	-1.83	5.87	5.87	0.94306	Zona pellucida sperm-binding protein (3);	0.193177	0.49916	D	0.000137	D	0.85292	0.5663	L	0.55481	1.735	0.43959	D	0.996635	D	0.56287	0.975	P	0.47786	0.557	D	0.86055	0.1528	10	0.56958	D	0.05	.	14.3622	0.66779	0.0:0.9297:0.0:0.0703	.	166	Q96PL2	TECTB_HUMAN	C	166	ENSP00000358430:S166C	ENSP00000358430:S166C	S	+	2	0	TECTB	114043499	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.708000	0.54845	2.780000	0.95670	0.655000	0.94253	TCC		0.468	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		G	114053509	C	G	114053509	3	3	552	1	0	0	0	0	1	0	0	0	15753	855	30	4	515	4	TECTB	10	114053509	Missense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	25635080	114053509	21481238	45	29759											
B3GAT3	26229	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62384532	62384532	+	Missense_Mutation	SNP	G	G	A	rs559186924		TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr11:62384532G>A	ENST00000265471.5	-	3	772	c.545C>T	c.(544-546)cCa>cTa	p.P182L	B3GAT3_ENST00000534026.1_Missense_Mutation_p.P182L|B3GAT3_ENST00000531383.1_Missense_Mutation_p.P182L	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	182					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)	p.P182L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CCCTGGTGGTGGTGGGTCCTT	0.637																																																1	Substitution - Missense(1)	kidney(1)											96	99	98					11																	62384532		2202	4299	6501	SO:0001583	missense	26229			AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"Beta-1,3-glucuronyltransferases"	923	protein-coding gene	gene with protein product	"glucuronosyltransferase I", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"	606374	"beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.545C>T	11.37:g.62384532G>A	ENSP00000265471:p.Pro182Leu		B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	g	11.93	1.784532	0.31593	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.52	5.52	0.82312	.	0.262480	0.37530	N	0.002051	T	0.80433	0.4622	L	0.36672	1.1	0.44995	D	0.998012	D;B;D	0.65815	0.995;0.007;0.988	P;B;P	0.62089	0.898;0.021;0.736	T	0.76623	-0.2891	10	0.25106	T	0.35	.	15.0124	0.71560	0.0:0.0:1.0:0.0	.	182;188;182	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	L	182;182;182;205	ENSP00000265471:P182L;ENSP00000431359:P182L;ENSP00000432474:P182L;ENSP00000432854:P205L	ENSP00000265471:P182L	P	-	2	0	B3GAT3	62141108	1.000000	0.71417	0.795000	0.32087	0.986000	0.74619	3.794000	0.55492	2.611000	0.88343	0.550000	0.68814	CCA		0.637	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		A	62384532	G	A	62384532	3	1	552	1	0	0	0	0	1	0	0	0	1255	1348	47	2	474	2	B3GAT3	11	62384532	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08		62384532	72621984	46	29760											
TSGA10IP	254187	broad.mit.edu	37	11	65715209	65715209	+	RNA	SNP	C	C	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr11:65715209C>T	ENST00000532620.1	+	0	1144				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.R275*(1)		endometrium(2)|kidney(3)|lung(9)	14						CCTCCGAAGGCGACAATGGAG	0.607																																																1	Substitution - Nonsense(1)	kidney(1)											17	20	19					11																	65715209		2076	4201	6277			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715209C>T			Q3SXZ9|Q3SY01|Q96M26	Nonsense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.607	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		T	65715209	C	T	65715209	1	4	552	0	1	0	0	0	0	0	0	0	16623	760	27	1		1	TSGA10IP	11	65715209	RNA	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	3330677	65715209	69291307	47	29761											
YIF1A	10897	hgsc.bcm.edu;ucsc.edu	37	11	66052992	66052996	+	Frame_Shift_Del	DEL	CACCT	CACCT	-			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	CACCT	CACCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr11:66052992_66052996delCACCT	ENST00000376901.4	-	6	681_685	c.497_501delAGGTG	c.(496-501)gaggtgfs	p.EV166fs	YIF1A_ENST00000471387.2_Frame_Shift_Del_p.EV23fs|YIF1A_ENST00000359461.6_Intron|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	166					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						ACAGGCCCAGCACCTCCGGGGAGAA	0.663																																																0																																										SO:0001589	frameshift_variant	10897			AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"Yip1 interacting factor homolog (S. cerevisiae)"	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.497_501delAGGTG	11.37:g.66052992_66052996delCACCT	ENSP00000366098:p.Glu166fs		A6NM00|Q96G83|Q9BVD0	Frame_Shift_Del	DEL	ENST00000376901.4	37	CCDS8132.1																																																																																				0.663	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		-	66052996	CACCT	-	66052992	7	5	552	1	0	1	0	1	0	0	0	0	17480	697	25	0	392	0	YIF1A	11	66052992	Frame_Shift_Del	DEL	CACCT	TCGA-CJ-6027-01A-11D-1669-08	337783	66052992	68953524	48	29762											
C2CD3	26005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73753116	73753116	+	Silent	SNP	G	G	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr11:73753116G>T	ENST00000334126.7	-	29	5869	c.5643C>A	c.(5641-5643)tcC>tcA	p.S1881S	C2CD3_ENST00000313663.7_Silent_p.S1881S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1881					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.S1881S(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAGTCAGAATGGAGGTTTGGG	0.478																																																2	Substitution - coding silent(2)	kidney(2)											201	171	181					11																	73753116		2200	4293	6493	SO:0001819	synonymous_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5643C>A	11.37:g.73753116G>T			C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	G	8.132	0.783305	0.16189	.	.	ENSG00000168014	ENST00000538361	.	.	.	5.82	2.61	0.31194	.	.	.	.	.	T	0.47173	0.1431	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33523	-0.9865	4	.	.	.	-11.7656	4.3351	0.11081	0.1375:0.1024:0.5322:0.2279	.	.	.	.	N	115	.	.	H	-	1	0	C2CD3	73430764	0.998000	0.40836	0.999000	0.59377	0.979000	0.70002	0.256000	0.18351	0.801000	0.34066	-0.237000	0.12165	CAT		0.478	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		T	73753116	G	T	73753116	2	4	552	1	0	0	0	0	0	0	0	1	2156	1335	47	4		4	C2CD3	11	73753116	Silent	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	7700124	73753116	61253400	49	29763											
ODZ4	26011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	78369131	78369131	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr11:78369131A>G	ENST00000278550.7	-	34	8744	c.8282T>C	c.(8281-8283)aTg>aCg	p.M2761T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2761					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.M2761T(2)									GCTCTGTCTCATGAAGTGGAT	0.542																																																2	Substitution - Missense(2)	kidney(2)											243	252	249					11																	78369131		2107	4230	6337	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8282T>C	11.37:g.78369131A>G	ENSP00000278550:p.Met2761Thr		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450914	0.43531	.	.	ENSG00000149256	ENST00000278550	D	0.88975	-2.45	5.52	5.52	0.82312	.	0.042876	0.85682	D	0.000000	T	0.81678	0.4873	L	0.29908	0.895	0.58432	D	0.999991	B	0.33379	0.41	B	0.26614	0.071	T	0.79699	-0.1694	9	.	.	.	.	15.8062	0.78513	1.0:0.0:0.0:0.0	.	2761	Q6N022	TEN4_HUMAN	T	2761	ENSP00000278550:M2761T	.	M	-	2	0	ODZ4	78046779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.087000	0.94110	2.317000	0.78254	0.460000	0.39030	ATG		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			G	78369131	A	G	78369131	3	3	552	1	0	0	0	0	1	0	0	0	10839	217	8	3	31	3	ODZ4	11	78369131	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08	4616015	78369131	56637385	50	29764											
RBM7	10179	broad.mit.edu;hgsc.bcm.edu	37	11	114272549	114272549	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr11:114272549T>C	ENST00000540163.1	+	2	868	c.226T>C	c.(226-228)Tat>Cat	p.Y76H	RBM7_ENST00000541475.1_Missense_Mutation_p.Y76H|C11orf71_ENST00000325636.4_5'Flank|RBM7_ENST00000375490.5_Missense_Mutation_p.Y76H|RBM7_ENST00000545678.1_Intron|RP11-212D19.4_ENST00000544347.1_Silent_p.F72F|RBM7_ENST00000544582.1_Missense_Mutation_p.Y76H			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	76	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y76H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AATCAAACTTTATGGAAGGCC	0.343																																																1	Substitution - Missense(1)	kidney(1)											82	84	83					11																	114272549		2201	4296	6497	SO:0001583	missense	10179			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"RNA binding motif (RRM) containing"	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.226T>C	11.37:g.114272549T>C	ENSP00000439918:p.Tyr76His		B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.837943	0.50951	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000541475;ENST00000544582	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.254979	0.45867	D	0.000325	T	0.11836	0.0288	N	0.11756	0.17	0.80722	D	1	B;B	0.13145	0.003;0.007	B;B	0.20577	0.03;0.02	T	0.12167	-1.0558	10	0.37606	T	0.19	-16.1596	14.9156	0.70795	0.0:0.0:0.0:1.0	.	76;76	Q6IRX3;Q9Y580	.;RBM7_HUMAN	H	76	ENSP00000439918:Y76H;ENSP00000364639:Y76H;ENSP00000440949:Y76H;ENSP00000440923:Y76H	ENSP00000364639:Y76H	Y	+	1	0	RBM7	113777759	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.696000	0.68287	2.186000	0.69663	0.533000	0.62120	TAT		0.343	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		C	114272549	T	C	114272549	3	2	552	1	0	0	0	0	1	0	0	0	13151	1754	61	3	232	3	RBM7	11	114272549	Missense_Mutation	SNP	T	TCGA-CJ-6027-01A-11D-1669-08	35903418	114272549	20733967	51	29765											
LACRT	90070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55026040	55026040	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr12:55026040C>A	ENST00000257867.4	-	3	291	c.238G>T	c.(238-240)Gaa>Taa	p.E80*	LACRT_ENST00000547511.1_Nonsense_Mutation_p.E80*	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	80					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)	p.E80*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						GGGTTTAGTTCCTGCCTGCTT	0.552																																																1	Substitution - Nonsense(1)	kidney(1)											123	116	119					12																	55026040		2203	4300	6503	SO:0001587	stop_gained	90070			AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.238G>T	12.37:g.55026040C>A	ENSP00000257867:p.Glu80*			Nonsense_Mutation	SNP	ENST00000257867.4	37	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328677	0.24167	.	.	ENSG00000135413	ENST00000546721;ENST00000547511;ENST00000257867	.	.	.	2.73	-5.46	0.02608	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.99999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.6025	0.02677	0.1589:0.4425:0.1601:0.2385	.	.	.	.	X	50;80;80	.	ENSP00000257867:E80X	E	-	1	0	LACRT	53312307	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.673000	0.00842	-1.868000	0.01142	0.462000	0.41574	GAA		0.552	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277		A	55026040	C	A	55026040	4	1	552	1	0	0	0	0	0	1	0	0	8598	864	30	4	190	4	LACRT	12	55026040	Nonsense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08		55026040	78825855	52	29766											
ATP5B	506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57036241	57036241	+	Splice_Site	SNP	C	C	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr12:57036241C>A	ENST00000262030.3	-	7	1125		c.e7+1		ATP5B_ENST00000552919.1_Splice_Site|SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000550162.1_Splice_Site	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide						angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTTTTCTTACCTGTACAGAG	0.478																																																1	Unknown(1)	kidney(1)											76	80	79					12																	57036241		2203	4300	6503	SO:0001630	splice_region_variant	506			M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1074+1G>T	12.37:g.57036241C>A			A8K4X0|Q14283	Splice_Site	SNP	ENST00000262030.3	37	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500329	0.85176	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551020;ENST00000552959;ENST00000551570	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP5B	55322508	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.601000	0.82783	2.941000	0.99782	0.655000	0.94253	.		0.478	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686	Intron	A	57036241	C	A	57036241	5	1	552	1	0	0	0	0	0	0	1	0	1148	521	18	4	530	4	ATP5B	12	57036241	Splice_Site	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	2010201	57036241	76815654	53	29767											
INTS6	26512	broad.mit.edu;hgsc.bcm.edu	37	13	51969612	51969612	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr13:51969612A>G	ENST00000311234.4	-	5	909	c.437T>C	c.(436-438)tTa>tCa	p.L146S	INTS6_ENST00000463928.1_Missense_Mutation_p.L146S|INTS6_ENST00000398119.2_Missense_Mutation_p.L133S|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000497989.1_5'UTR|INTS6_ENST00000420668.2_Intron	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	146	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.L146S(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATTAAGAGGTAAATGAAGCTG	0.398																																																1	Substitution - Missense(1)	kidney(1)											52	47	49					13																	51969612		2203	4300	6503	SO:0001583	missense	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.437T>C	13.37:g.51969612A>G	ENSP00000310260:p.Leu146Ser		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.594379	0.86953	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000491189	.	.	.	5.92	5.92	0.95590	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88609	0.3155	9	0.87932	D	0	-8.527	15.5442	0.76081	1.0:0.0:0.0:0.0	.	146	Q9UL03	INT6_HUMAN	S	146;133;73	.	ENSP00000310260:L146S	L	-	2	0	INTS6	50867613	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.266000	0.75297	0.533000	0.62120	TTA		0.398	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		G	51969612	A	G	51969612	3	3	552	1	0	0	0	0	1	0	0	0	7784	372	13	3	2282	3	INTS6	13	51969612	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08		51969612	63200266	54	29768											
BAZ1A	11177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	35264070	35264070	+	Silent	SNP	C	C	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr14:35264070C>A	ENST00000382422.2	-	10	1575	c.1248G>T	c.(1246-1248)gtG>gtT	p.V416V	BAZ1A_ENST00000360310.1_Silent_p.V416V|BAZ1A_ENST00000358716.4_Silent_p.V416V			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	416					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.V416V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTCTAGTTTTCACTGGTGTTG	0.363																																																1	Substitution - coding silent(1)	kidney(1)											79	73	75					14																	35264070		2203	4300	6503	SO:0001819	synonymous_variant	11177			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1248G>T	14.37:g.35264070C>A			Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	ENST00000382422.2	37	CCDS9651.1																																																																																				0.363	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			A	35264070	C	A	35264070	2	1	552	1	0	0	0	0	0	0	0	1	1329	813	29	4		4	BAZ1A	14	35264070	Silent	SNP	C	TCGA-CJ-6027-01A-11D-1669-08		35264070	72085470	55	29769											
KIAA0586	9786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58932590	58932590	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr14:58932590C>G	ENST00000556134.1	+	16	2326	c.2052C>G	c.(2050-2052)ttC>ttG	p.F684L	KIAA0586_ENST00000423743.3_Missense_Mutation_p.F655L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.F752L|KIAA0586_ENST00000261244.5_Missense_Mutation_p.F623L	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	684					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.F752L(1)|p.F623L(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGACTGACTTCTATGCAACAA	0.343																																																2	Substitution - Missense(2)	kidney(2)											113	105	108					14																	58932590		1863	4103	5966	SO:0001583	missense	9786			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2052C>G	14.37:g.58932590C>G	ENSP00000452351:p.Phe684Leu		B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084692	0.36758	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.21	-3.8	0.04307	.	0.379771	0.25430	N	0.030729	T	0.15609	0.0376	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B;B	0.30605	0.0;0.0;0.287;0.085;0.0;0.0	B;B;B;B;B;B	0.26864	0.003;0.002;0.074;0.035;0.003;0.003	T	0.19418	-1.0306	10	0.12103	T	0.63	.	0.9502	0.01374	0.1658:0.2052:0.2711:0.3579	.	559;559;752;623;684;655	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	L	752;684;655;623;559	ENSP00000346359:F752L;ENSP00000452351:F684L;ENSP00000399427:F655L;ENSP00000261244:F623L	ENSP00000261244:F623L	F	+	3	2	KIAA0586	58002343	0.000000	0.05858	0.618000	0.29105	0.348000	0.29142	-0.067000	0.11579	-0.241000	0.09681	-0.302000	0.09304	TTC		0.343	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		G	58932590	C	G	58932590	3	3	552	1	0	0	0	0	1	0	0	0	8188	912	32	4	1923	4	KIAA0586	14	58932590	Missense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	23668520	58932590	48416950	56	29770											
BDKRB2	624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	96703508	96703508	+	Missense_Mutation	SNP	G	G	T	rs532210447		TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr14:96703508G>T	ENST00000306005.3	+	2	260	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000554311.1_Missense_Mutation_p.A22S|RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.A22S|BDKRB2_ENST00000542454.2_5'UTR	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	22					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.A22S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	GCCCACCACGGCCTCTTTCAG	0.542																																																1	Substitution - Missense(1)	kidney(1)											147	121	130					14																	96703508		2203	4300	6503	SO:0001583	missense	624			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.64G>T	14.37:g.96703508G>T	ENSP00000307713:p.Ala22Ser			Missense_Mutation	SNP	ENST00000306005.3	37	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	8.229	0.804270	0.16467	.	.	ENSG00000168398;ENSG00000168398;ENSG00000258691	ENST00000554311;ENST00000306005;ENST00000553811	T;T;T	0.71579	-0.58;-0.58;1.77	3.71	1.86	0.25419	.	1.861990	0.02957	N	0.142566	T	0.49423	0.1556	N	0.08118	0	0.09310	N	1	B	0.31318	0.319	B	0.27170	0.077	T	0.44590	-0.9318	10	0.30854	T	0.27	-2.0302	5.3921	0.16249	0.1123:0.2048:0.6829:0.0	.	22	P30411	BKRB2_HUMAN	S	22	ENSP00000450482:A22S;ENSP00000307713:A22S;ENSP00000450984:A22S	ENSP00000307713:A22S	A	+	1	0	RP11-404P21.8;BDKRB2	95773261	0.008000	0.16893	0.068000	0.19968	0.026000	0.11368	0.611000	0.24268	0.548000	0.28955	-0.830000	0.03078	GCC		0.542	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			T	96703508	G	T	96703508	3	4	552	1	0	0	0	0	1	0	0	0	1393	1203	42	4	66	4	BDKRB2	14	96703508	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	37770918	96703508	10646032	57	29771											
PAPOLA	10914	broad.mit.edu;ucsc.edu	37	14	97022676	97022676	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr14:97022676A>G	ENST00000216277.8	+	19	2150	c.1930A>G	c.(1930-1932)Act>Gct	p.T644A	PAPOLA_ENST00000392990.2_Missense_Mutation_p.T644A	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	644					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.T644A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AAAAATACCTACTCCTATAGT	0.398																																					NSCLC(19;254 734 11908 35501 39234)											1	Substitution - Missense(1)	kidney(1)											111	107	108					14																	97022676		2203	4300	6503	SO:0001583	missense	10914			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1930A>G	14.37:g.97022676A>G	ENSP00000216277:p.Thr644Ala		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	A	5.105	0.205008	0.09704	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	6.1	4.96	0.65561	.	0.329606	0.32624	N	0.005851	T	0.35828	0.0945	L	0.29908	0.895	0.22081	N	0.999373	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.19582	-1.0301	9	0.35671	T	0.21	.	12.1744	0.54178	0.9338:0.0:0.0662:0.0	.	660;660;644	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	A	644;660;644;394	.	ENSP00000216277:T644A	T	+	1	0	PAPOLA	96092429	1.000000	0.71417	0.231000	0.23993	0.859000	0.49053	6.414000	0.73318	1.135000	0.42183	-0.256000	0.11100	ACT		0.398	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			G	97022676	A	G	97022676	3	3	552	1	0	0	0	0	1	0	0	0	11431	391	14	3	2004	3	PAPOLA	14	97022676	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08	319168	97022676	10326864	58	29772											
PLA2G4D	283748	broad.mit.edu;ucsc.edu	37	15	42379578	42379578	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr15:42379578A>G	ENST00000290472.3	-	3	269	c.175T>C	c.(175-177)Ttt>Ctt	p.F59L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	59	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.F59L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TTGGTCTTAAACTTCATTCCA	0.547																																																1	Substitution - Missense(1)	kidney(1)											235	206	216					15																	42379578		2203	4299	6502	SO:0001583	missense	283748			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.175T>C	15.37:g.42379578A>G	ENSP00000290472:p.Phe59Leu		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	A	0.127	-1.117673	0.01785	.	.	ENSG00000159337	ENST00000290472	T	0.68624	-0.34	5.15	1.47	0.22746	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.802027	0.11380	N	0.569882	T	0.37892	0.1020	N	0.12663	0.25	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29761	-1.0001	10	0.02654	T	1	-1.8898	4.3509	0.11155	0.5679:0.1653:0.2668:0.0	.	59	Q86XP0	PA24D_HUMAN	L	59	ENSP00000290472:F59L	ENSP00000290472:F59L	F	-	1	0	PLA2G4D	40166870	0.005000	0.15991	0.571000	0.28486	0.293000	0.27360	0.127000	0.15790	0.354000	0.24105	0.533000	0.62120	TTT		0.547	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		G	42379578	A	G	42379578	3	3	552	1	0	0	0	0	1	0	0	0	12006	43	2	3	2353	3	PLA2G4D	15	42379578	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08		42379578	60151814	59	29773											
DET1	55070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89070834	89070834	+	Missense_Mutation	SNP	G	G	A	rs569976232		TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr15:89070834G>A	ENST00000268148.8	-	3	1412	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	DET1_ENST00000564406.1_Missense_Mutation_p.R434C|DET1_ENST00000444300.1_Missense_Mutation_p.R434C	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	423						nucleus (GO:0005634)		p.R434C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCTTACCGGCGCTGGATCTGC	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19718	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											69	65	67					15																	89070834		1874	4112	5986	SO:0001583	missense	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1267C>T	15.37:g.89070834G>A	ENSP00000268148:p.Arg423Cys		B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014609	0.75161	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.7	5.7	0.88788	.	0.049043	0.85682	D	0.000000	T	0.78953	0.4365	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64506	0.926;0.926	T	0.80725	-0.1254	9	0.87932	D	0	.	18.8293	0.92132	0.0:0.0:1.0:0.0	.	423;434	Q7L5Y6;B3KNN6	DET1_HUMAN;.	C	434;423	.	ENSP00000268148:R423C	R	-	1	0	DET1	86871838	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.036000	0.76524	2.683000	0.91414	0.655000	0.94253	CGC		0.443	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		A	89070834	G	A	89070834	3	1	552	1	0	0	0	0	1	0	0	0	4452	1087	38	1	397	1	DET1	15	89070834	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	46691256	89070834	13460558	60	29774											
MMP2	4313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	55519326	55519326	+	Silent	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr16:55519326G>A	ENST00000219070.4	+	4	1154	c.645G>A	c.(643-645)ttG>ttA	p.L215L	MMP2_ENST00000543485.1_Silent_p.L139L|MMP2_ENST00000570308.1_Silent_p.L139L|MMP2_ENST00000437642.2_Silent_p.L165L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	215	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.L215L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TATGGACCTTGGGAGAAGGCC	0.587																																																1	Substitution - coding silent(1)	kidney(1)											90	80	84					16																	55519326		2198	4300	6498	SO:0001819	synonymous_variant	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.645G>A	16.37:g.55519326G>A			B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	CCDS10752.1																																																																																				0.587	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			A	55519326	G	A	55519326	2	1	552	1	0	0	0	0	0	0	0	1	9660	1339	47	2		2	MMP2	16	55519326	Silent	SNP	G	TCGA-CJ-6027-01A-11D-1669-08		55519326	34835427	61	29775											
ZPBP2	124626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38031594	38031594	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr17:38031594G>A	ENST00000348931.4	+	7	987	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	ZPBP2_ENST00000584588.1_Missense_Mutation_p.V193M|ZPBP2_ENST00000377940.3_Missense_Mutation_p.V244M	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	266					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.V266M(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATGCATTTTGTGGACCACAG	0.393																																																1	Substitution - Missense(1)	kidney(1)											87	83	85					17																	38031594		2203	4300	6503	SO:0001583	missense	124626			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.796G>A	17.37:g.38031594G>A	ENSP00000335384:p.Val266Met		A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495983	0.26774	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.59772	0.24;0.24	5.55	1.31	0.21738	.	0.396545	0.21320	N	0.076498	T	0.51568	0.1682	M	0.66939	2.045	0.32824	D	0.503153	P;P	0.41710	0.577;0.76	B;B	0.38428	0.179;0.273	T	0.63435	-0.6638	10	0.87932	D	0	-4.4988	9.3336	0.38036	0.3475:0.0:0.6525:0.0	.	244;266	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	M	266;244	ENSP00000335384:V266M;ENSP00000367174:V244M	ENSP00000335384:V266M	V	+	1	0	ZPBP2	35285120	0.997000	0.39634	0.999000	0.59377	0.974000	0.67602	0.501000	0.22578	0.307000	0.22880	0.460000	0.39030	GTG		0.393	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		A	38031594	G	A	38031594	3	1	552	1	0	0	0	0	1	0	0	0	18225	1377	48	2	822	2	ZPBP2	17	38031594	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08		38031594	43163616	62	29776											
GAA	2548	broad.mit.edu;hgsc.bcm.edu	37	17	78090845	78090845	+	Silent	SNP	C	C	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr17:78090845C>T	ENST00000302262.3	+	16	2487	c.2268C>T	c.(2266-2268)ctC>ctT	p.L756L	GAA_ENST00000390015.3_Silent_p.L756L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	756					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.L756L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CCCCAGTGCTCCAGGCCGGGA	0.647																																																1	Substitution - coding silent(1)	kidney(1)											65	60	61					17																	78090845		2203	4300	6503	SO:0001819	synonymous_variant	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2268C>T	17.37:g.78090845C>T			Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	CCDS32760.1																																																																																				0.647	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			T	78090845	C	T	78090845	2	4	552	1	0	0	0	0	0	0	0	1	6149	842	30	2		2	GAA	17	78090845	Silent	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	40059251	78090845	3104365	63	29777											
ATP8B3	148229	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1811645	1811645	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr19:1811645A>T	ENST00000310127.6	-	2	329	c.91T>A	c.(91-93)Tca>Aca	p.S31T	ATP8B3_ENST00000539485.1_Missense_Mutation_p.S31T|ATP8B3_ENST00000525591.1_5'UTR|ATP8B3_ENST00000526092.2_5'UTR	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	31					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S31T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCACGTCTGAGTCACCCGTG	0.662																																																1	Substitution - Missense(1)	kidney(1)											41	47	45					19																	1811645		2062	4193	6255	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.91T>A	19.37:g.1811645A>T	ENSP00000311336:p.Ser31Thr		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	a	12.73	2.024307	0.35701	.	.	ENSG00000130270	ENST00000310127;ENST00000539485	T;T	0.75367	-0.93;-0.93	2.42	1.37	0.22104	.	.	.	.	.	T	0.60170	0.2248	N	0.08118	0	0.09310	N	1	D	0.55385	0.971	P	0.54629	0.757	T	0.50039	-0.8874	9	0.23302	T	0.38	.	4.4984	0.11851	0.8358:0.0:0.1642:0.0	.	31	O60423	AT8B3_HUMAN	T	31	ENSP00000311336:S31T;ENSP00000443574:S31T	ENSP00000311336:S31T	S	-	1	0	ATP8B3	1762645	0.107000	0.21998	0.004000	0.12327	0.115000	0.19883	0.582000	0.23834	0.343000	0.23821	0.459000	0.35465	TCA		0.662	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		T	1811645	A	T	1811645	3	4	552	1	0	0	0	0	1	0	0	0	1196	304	11	5	3971	5	ATP8B3	19	1811645	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08		1811645	57317338	64	29778											
ACSBG2	81616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6182803	6182803	+	Silent	SNP	C	C	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr19:6182803C>T	ENST00000586696.1	+	9	1224	c.948C>T	c.(946-948)gtC>gtT	p.V316V	ACSBG2_ENST00000588485.1_Silent_p.V129V|ACSBG2_ENST00000588304.1_Silent_p.V266V|ACSBG2_ENST00000591403.1_Silent_p.V316V|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Silent_p.V316V			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	316					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.V316V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACCTACTGTCTTCATTGGAG	0.483																																																1	Substitution - coding silent(1)	kidney(1)											79	70	73					19																	6182803		2203	4300	6503	SO:0001819	synonymous_variant	81616				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.948C>T	19.37:g.6182803C>T			B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	ENST00000586696.1	37	CCDS12159.1																																																																																				0.483	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		T	6182803	C	T	6182803	2	4	552	1	0	0	0	0	0	0	0	1	174	900	32	2		2	ACSBG2	19	6182803	Silent	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	4371158	6182803	52946180	65	29779											
ACTL9	284382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8807932	8807932	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr19:8807932G>A	ENST00000324436.3	-	1	1240	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	374						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P374S(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TTCCTGGTGGGCTGGGCAGCC	0.682																																																1	Substitution - Missense(1)	kidney(1)											27	31	29					19																	8807932		2203	4300	6503	SO:0001583	missense	284382				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1120C>T	19.37:g.8807932G>A	ENSP00000316674:p.Pro374Ser		A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	g	16.02	3.004445	0.54254	.	.	ENSG00000181786	ENST00000324436	T	0.08807	3.05	4.51	2.24	0.28232	.	0.557431	0.14814	U	0.296900	T	0.14056	0.0340	M	0.66378	2.025	0.34900	D	0.746414	B	0.34181	0.44	B	0.40782	0.34	T	0.13150	-1.0520	10	0.87932	D	0	.	9.9001	0.41342	0.0:0.1518:0.6908:0.1574	.	374	Q8TC94	ACTL9_HUMAN	S	374	ENSP00000316674:P374S	ENSP00000316674:P374S	P	-	1	0	ACTL9	8668932	1.000000	0.71417	0.205000	0.23548	0.577000	0.36160	3.929000	0.56514	0.569000	0.29329	0.457000	0.33378	CCC		0.682	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		A	8807932	G	A	8807932	3	1	552	1	0	0	0	0	1	0	0	0	203	1203	42	2	134	2	ACTL9	19	8807932	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	2625129	8807932	50321051	66	29780											
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9075200	9075200	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr19:9075200A>T	ENST00000397910.4	-	3	12449	c.12246T>A	c.(12244-12246)ttT>ttA	p.F4082L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4084	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.F4082L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGCAGGAAAGTTAGACA	0.488																																																2	Substitution - Missense(2)	kidney(2)											105	101	102					19																	9075200		1992	4159	6151	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12246T>A	19.37:g.9075200A>T	ENSP00000381008:p.Phe4082Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	6.746	0.506509	0.12883	.	.	ENSG00000181143	ENST00000397910	T	0.02446	4.29	2.09	-1.4	0.08968	.	.	.	.	.	T	0.02494	0.0076	L	0.34521	1.04	.	.	.	B	0.16603	0.018	B	0.15870	0.014	T	0.36212	-0.9757	8	0.87932	D	0	.	5.0909	0.14708	0.5045:0.0:0.4955:0.0	.	4082	B5ME49	.	L	4082	ENSP00000381008:F4082L	ENSP00000381008:F4082L	F	-	3	2	MUC16	8936200	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.175000	0.03102	-0.277000	0.09193	-0.765000	0.03448	TTT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9075200	A	T	9075200	3	4	552	1	0	0	0	0	1	0	0	0	9975	243	9	5	31605	5	MUC16	19	9075200	Missense_Mutation	SNP	A	TCGA-CJ-6027-01A-11D-1669-08	267268	9075200	50053783	67	29781											
OR7G3	390883	hgsc.bcm.edu	37	19	9236698	9236699	+	Frame_Shift_Ins	INS	-	-	ATGGT	rs111867493|rs3029651|rs111279560|rs138680298	byFrequency	TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr19:9236698_9236699insATGGT	ENST00000305444.2	-	1	927_928	c.928_929insACCAT	c.(928-930)tctfs	p.S310fs		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCAATGGAAAGATGGTATCCTA	0.446														2122	0.423722	0.711	0.245	5008	,	,		19331	0.3651		0.3141	False		,,,				2504	0.3354															0										2730,1532		902,926,303						-1.2	0		dbSNP_132	66	2459,5795		353,1753,2021	no	frameshift	OR7G3	NM_001001958.1		1255,2679,2324	A1A1,A1R,RR		29.7916,35.9456,41.4589				5189,7327				SO:0001589	frameshift_variant	390883				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.924_928dupACCAT	19.37:g.9236699_9236703dupATGGT	ENSP00000302867:p.Ser310fs		Q6IFJ6|Q96R99	Frame_Shift_Ins	INS	ENST00000305444.2	37	CCDS32899.1																																																																																				0.446	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			ATGGT	9236699	-	ATGGT	9236698	7	5	552	1	0	1	1	0	0	0	0	0	11226	942	33	0	12	0	OR7G3	19	9236698	Frame_Shift_Ins	INS	-	TCGA-CJ-6027-01A-11D-1669-08	161498	9236698	49892285	68	29782											
SPTBN4	57731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41066216	41066216	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr19:41066216C>G	ENST00000352632.3	+	27	5908	c.5822C>G	c.(5821-5823)aCa>aGa	p.T1941R	SPTBN4_ENST00000392023.1_Missense_Mutation_p.T617R|SPTBN4_ENST00000595535.1_Missense_Mutation_p.T1941R|SPTBN4_ENST00000598249.1_Missense_Mutation_p.T1941R|SPTBN4_ENST00000338932.3_Missense_Mutation_p.T1941R|SPTBN4_ENST00000392025.1_Missense_Mutation_p.T684R			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1941					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T1941R(1)|p.T617R(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTCAGCTCCACAGCCGACGCC	0.657																																																2	Substitution - Missense(2)	kidney(2)											89	77	81					19																	41066216		2203	4300	6503	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5822C>G	19.37:g.41066216C>G	ENSP00000263373:p.Thr1941Arg		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787764	0.49997	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.60797	1.33;1.33;1.33;0.16	4.47	4.47	0.54385	.	0.180734	0.37483	U	0.002065	T	0.73321	0.3572	M	0.64997	1.995	0.40000	D	0.975155	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.979;0.999;0.988;0.998	T	0.77778	-0.2460	10	0.87932	D	0	.	16.0659	0.80870	0.0:1.0:0.0:0.0	.	684;617;1941;1941	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	R	1941;1941;1941;684;617	ENSP00000263373:T1941R;ENSP00000340345:T1941R;ENSP00000375879:T684R;ENSP00000375877:T617R	ENSP00000340345:T1941R	T	+	2	0	SPTBN4	45758056	0.560000	0.26570	1.000000	0.80357	0.202000	0.24057	2.581000	0.46077	2.321000	0.78463	0.591000	0.81541	ACA		0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			G	41066216	C	G	41066216	3	3	552	1	0	0	0	0	1	0	0	0	15126	478	17	4	5924	4	SPTBN4	19	41066216	Missense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	31829518	41066216	18062767	69	29783											
RABAC1	10567	broad.mit.edu;ucsc.edu	37	19	42462491	42462491	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr19:42462491C>T	ENST00000222008.6	-	3	411	c.314G>A	c.(313-315)gGc>gAc	p.G105D	RABAC1_ENST00000601891.1_Missense_Mutation_p.G105D|RABAC1_ENST00000601078.1_Missense_Mutation_p.G11D	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	105						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	identical protein binding (GO:0042802)	p.G105D(1)		central_nervous_system(1)|kidney(1)|prostate(1)	3						GTAACAGGCGCCGAAAAAGAC	0.582																																																1	Substitution - Missense(1)	kidney(1)											71	64	66					19																	42462491		2203	4297	6500	SO:0001583	missense	10567			AJ133534	CCDS12593.1	19q13.2	2012-09-20			ENSG00000105404	ENSG00000105404			9794	protein-coding gene	gene with protein product	"PRA1 domain family 1", "prenylated Rab acceptor 1"	604925				10329441, 10751420	Standard	NM_006423		Approved	PRA1, PRAF1, YIP3	uc002osf.3	Q9UI14		ENST00000222008.6:c.314G>A	19.37:g.42462491C>T	ENSP00000222008:p.Gly105Asp		Q7Z4Y2|Q9Y3R1	Missense_Mutation	SNP	ENST00000222008.6	37	CCDS12593.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021472	0.93462	.	.	ENSG00000105404	ENST00000222008	T	0.46063	0.88	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.72950	-0.4136	10	0.72032	D	0.01	-9.4411	15.3911	0.74744	0.0:1.0:0.0:0.0	.	105	Q9UI14	PRAF1_HUMAN	D	105	ENSP00000222008:G105D	ENSP00000222008:G105D	G	-	2	0	RABAC1	47154331	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.211000	0.72182	2.309000	0.77851	0.655000	0.94253	GGC		0.582	RABAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463388.1	NM_006423		T	42462491	C	T	42462491	3	4	552	1	0	0	0	0	1	0	0	0	12966	739	26	2	255	2	RABAC1	19	42462491	Missense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	1396275	42462491	16666492	70	29784											
ZNF45	7596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44418082	44418082	+	Silent	SNP	G	G	A	rs142171881	byFrequency	TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr19:44418082G>A	ENST00000269973.5	-	10	2596	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	ZNF45_ENST00000589703.1_Silent_p.C502C|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	502					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C502C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CACACCTCTCGCATTTATAGG	0.483													G|||	5	0.000998403	0.003	0.0014	5008	,	,		20706	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G		13,4393	21.2+/-45.6	0,13,2190	59	57	57		1506	0	1	19	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous	ZNF45	NM_003425.3		0,13,6490	AA,AG,GG		0.0,0.2951,0.1		502/683	44418082	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1506C>T	19.37:g.44418082G>A			P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	37	CCDS12632.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.631	0.484853	0.12641	0.002951	0.0	ENSG00000124459	ENST00000328762	.	.	.	3.61	-0.0442	0.13856	.	.	.	.	.	T	0.60741	0.2292	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59289	-0.7482	5	0.66056	D	0.02	-10.9822	7.9251	0.29870	0.5885:0.0:0.4115:0.0	.	.	.	.	V	502	.	ENSP00000367176:A502V	A	-	2	0	ZNF45	49109922	0.065000	0.20965	0.995000	0.50966	0.974000	0.67602	0.499000	0.22546	-0.136000	0.11475	-0.693000	0.03709	GCG		0.483	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		A	44418082	G	A	44418082	2	1	552	1	0	0	0	0	0	0	0	1	17926	1079	38	1		1	ZNF45	19	44418082	Silent	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	1955591	44418082	14710901	71	29785											
ZSCAN1	284312	broad.mit.edu;hgsc.bcm.edu	37	19	58549265	58549265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr19:58549265G>T	ENST00000282326.1	+	3	308	c.61G>T	c.(61-63)Gag>Tag	p.E21*	ZSCAN1_ENST00000391700.1_Nonsense_Mutation_p.E21*|ZSCAN1_ENST00000601162.1_Nonsense_Mutation_p.E21*	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	21					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.E21*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AACCCCGAGTGAGCAGGACGC	0.687																																																1	Substitution - Nonsense(1)	kidney(1)											9	11	10					19																	58549265		1992	4144	6136	SO:0001587	stop_gained	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.61G>T	19.37:g.58549265G>T	ENSP00000282326:p.Glu21*		Q3B798|Q6WLH8|Q86WS8	Nonsense_Mutation	SNP	ENST00000282326.1	37	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120717	0.56613	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	.	.	.	1.89	0.798	0.18660	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	5.5814	0.17252	0.0:0.0:0.675:0.325	.	.	.	.	X	21	.	ENSP00000282326:E21X	E	+	1	0	ZSCAN1	63241077	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.182000	0.09726	0.145000	0.18977	-0.292000	0.09595	GAG		0.687	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		T	58549265	G	T	58549265	4	4	552	1	0	0	0	0	0	1	0	0	18231	1291	45	4	63	4	ZSCAN1	19	58549265	Nonsense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	14131183	58549265	579718	72	29786											
PROCR	10544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33763988	33763988	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr20:33763988T>A	ENST00000216968.4	+	3	422	c.340T>A	c.(340-342)Tgc>Agc	p.C114S	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	114					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.C114S(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GACCATCCGCTGCTTCCTGGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											78	83	82					20																	33763988		2203	4300	6503	SO:0001583	missense	10544			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"CD molecules"	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.340T>A	20.37:g.33763988T>A	ENSP00000216968:p.Cys114Ser		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186295	0.78789	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.82167	-1.58	5.6	4.43	0.53597	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.163418	0.44688	D	0.000428	D	0.89501	0.6733	M	0.80982	2.52	0.46823	D	0.999219	D	0.89917	1.0	D	0.85130	0.997	D	0.88282	0.2937	10	0.35671	T	0.21	.	9.7446	0.40440	0.1547:0.0:0.0:0.8453	.	114	Q9UNN8	EPCR_HUMAN	S	114	ENSP00000216968:C114S	ENSP00000216968:C114S	C	+	1	0	PROCR	33227649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.414000	0.44627	2.139000	0.66308	0.448000	0.29417	TGC		0.597	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			A	33763988	T	A	33763988	3	1	552	1	0	0	0	0	1	0	0	0	12552	1580	55	5	350	5	PROCR	20	33763988	Missense_Mutation	SNP	T	TCGA-CJ-6027-01A-11D-1669-08		33763988	29261532	73	29787											
FAM83C	128876	hgsc.bcm.edu;ucsc.edu	37	20	33875097	33875099	+	In_Frame_Del	DEL	CTT	CTT	-	rs141444210		TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr20:33875097_33875099delCTT	ENST00000374408.3	-	4	1579_1581	c.1483_1485delAAG	c.(1483-1485)aagdel	p.K495del	FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	495										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCTTCTTCTCCTTCTCCTCCACT	0.626																																																0																																										SO:0001651	inframe_deletion	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1483_1485delAAG	20.37:g.33875097_33875099delCTT	ENSP00000363529:p.Lys495del		Q14D67|Q5JWN6|Q8N276	In_Frame_Del	DEL	ENST00000374408.3	37	CCDS13251.1																																																																																				0.626	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			-	33875099	CTT	-	33875097	7	5	552	1	0	1	0	1	0	0	0	0	5637	680	24	0	762	0	FAM83C	20	33875097	In_Frame_Del	DEL	CTT	TCGA-CJ-6027-01A-11D-1669-08	111109	33875097	29150423	74	29788											
C20orf24	55969	broad.mit.edu;ucsc.edu	37	20	35238021	35238021	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr20:35238021C>T	ENST00000373852.5	+	3	371	c.236C>T	c.(235-237)gCa>gTa	p.A79V	TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.A105V|C20orf24_ENST00000344795.3_Missense_Mutation_p.A79V|C20orf24_ENST00000342422.3_Intron			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	79								p.A79V(1)		breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTGATCAATGCAGGAGTCCTG	0.473																																																1	Substitution - Missense(1)	kidney(1)											274	233	247					20																	35238021		2203	4300	6503	SO:0001583	missense	55969			AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.236C>T	20.37:g.35238021C>T	ENSP00000362958:p.Ala79Val		E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	ENST00000373852.5	37	CCDS56190.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623287	0.66901	.	.	ENSG00000101084	ENST00000344795;ENST00000373852	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	T	0.78654	0.4317	M	0.77616	2.38	0.80722	D	1	D;D;P	0.89917	0.986;1.0;0.936	P;D;P	0.87578	0.843;0.998;0.692	T	0.73704	-0.3899	8	0.18710	T	0.47	.	17.5355	0.87829	0.0:1.0:0.0:0.0	.	79;79;79	Q9BUV8;Q9BUV8-2;Q9BUV8-3	CT024_HUMAN;.;.	V	79	.	ENSP00000340164:A79V	A	+	2	0	C20orf24	34671435	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.429000	0.80309	2.736000	0.93811	0.655000	0.94253	GCA		0.473	C20orf24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079006.1	NM_018840		T	35238021	C	T	35238021	3	4	552	1	0	0	0	0	1	0	0	0	2107	710	25	2	246	2	C20orf24	20	35238021	Missense_Mutation	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	1362924	35238021	27787499	75	29789											
C20orf165	128497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44515557	44515557	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr20:44515557G>A	ENST00000372519.3	-	2	327	c.283C>T	c.(283-285)Cat>Tat	p.H95Y		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	95					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.H95Y(1)									TGCCTCACATGCGGGAATTTG	0.637																																																1	Substitution - Missense(1)	kidney(1)											122	123	123					20																	44515557		2203	4300	6503	SO:0001583	missense	0			AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 165"	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.283C>T	20.37:g.44515557G>A	ENSP00000361597:p.His95Tyr			Missense_Mutation	SNP	ENST00000372519.3	37	CCDS13383.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.832830	0.00070	.	.	ENSG00000149634	ENST00000372519	T	0.41758	0.99	4.82	1.8	0.24995	.	1.203530	0.05957	N	0.639872	T	0.25082	0.0609	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22765	-1.0207	10	0.23302	T	0.38	-1.6063	5.8022	0.18420	0.176:0.1596:0.6644:0.0	.	95	Q9BR10	CT165_HUMAN	Y	95	ENSP00000361597:H95Y	ENSP00000361597:H95Y	H	-	1	0	C20orf165	43948964	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.558000	0.05978	0.235000	0.21160	0.655000	0.94253	CAT		0.637	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			A	44515557	G	A	44515557	3	1	552	1	0	0	0	0	1	0	0	0	2096	1319	46	2	404	2	C20orf165	20	44515557	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	9277536	44515557	18509963	76	29790											
MORC3	23515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37736413	37736413	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chr21:37736413G>A	ENST00000400485.1	+	14	1551	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	AP000692.9_ENST00000397184.2_RNA|MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	492					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.R492Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTGTTGTTTCGGCCAACTGCT	0.383																																																1	Substitution - Missense(1)	kidney(1)											129	117	120					21																	37736413		1861	4096	5957	SO:0001583	missense	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1475G>A	21.37:g.37736413G>A	ENSP00000383333:p.Arg492Gln		A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	5.361	0.251920	0.10185	.	.	ENSG00000159256	ENST00000400485	T	0.13420	2.59	5.38	1.19	0.21007	.	0.831221	0.10244	N	0.698016	T	0.04634	0.0126	N	0.03115	-0.41	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.44081	-0.9351	10	0.18710	T	0.47	-0.6205	2.3788	0.04348	0.172:0.2945:0.3986:0.135	.	492	Q14149	MORC3_HUMAN	Q	492	ENSP00000383333:R492Q	ENSP00000383333:R492Q	R	+	2	0	MORC3	36658283	0.001000	0.12720	0.002000	0.10522	0.764000	0.43329	0.461000	0.21940	0.311000	0.23014	0.561000	0.74099	CGG		0.383	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		A	37736413	G	A	37736413	3	1	552	1	0	0	0	0	1	0	0	0	9705	1116	39	1	1529	1	MORC3	21	37736413	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08		37736413	10393482	77	29791											
NYX	60506	broad.mit.edu	37	X	41333572	41333572	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chrX:41333572G>A	ENST00000342595.2	+	2	1322	c.866G>A	c.(865-867)aGc>aAc	p.S289N	NYX_ENST00000378220.1_Missense_Mutation_p.S289N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	289					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.S289N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GACCGCAACAGCATCGCCTTC	0.692																																																1	Substitution - Missense(1)	kidney(1)											35	34	34					X																	41333572		2201	4298	6499	SO:0001583	missense	60506			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.866G>A	X.37:g.41333572G>A	ENSP00000340328:p.Ser289Asn		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	ENST00000342595.2	37	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660591	0.47572	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.57752	0.38;0.38	5.19	3.4	0.38934	.	0.173078	0.49916	D	0.000131	T	0.32882	0.0844	N	0.17474	0.49	0.29479	N	0.856524	B	0.30563	0.285	B	0.30251	0.113	T	0.20472	-1.0274	10	0.21540	T	0.41	.	10.2694	0.43475	0.1648:0.0:0.8352:0.0	.	289	Q9GZU5	NYX_HUMAN	N	289	ENSP00000340328:S289N;ENSP00000367465:S289N	ENSP00000340328:S289N	S	+	2	0	NYX	41218516	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.342000	0.59341	0.960000	0.38005	0.600000	0.82982	AGC		0.692	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		A	41333572	G	A	41333572	3	1	552	1	0	0	0	0	1	0	0	0	10799	971	34	2	872	2	NYX	23	41333572	Missense_Mutation	SNP	G	TCGA-CJ-6027-01A-11D-1669-08		41333572	113936988	78	29792											
HDAC6	10013	hgsc.bcm.edu;ucsc.edu	37	X	48674608	48674608	+	Silent	SNP	C	C	T			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chrX:48674608C>T	ENST00000334136.5	+	18	1732	c.1554C>T	c.(1552-1554)ggC>ggT	p.G518G	HDAC6_ENST00000444343.2_Silent_p.G532G|HDAC6_ENST00000376619.2_Silent_p.G518G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	518	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.G518G(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGGAGCTGGGCCTTGCCGGGC	0.652																																					Pancreas(112;205 1675 2305 8976 15959)											1	Substitution - coding silent(1)	kidney(1)											62	50	54					X																	48674608		2203	4300	6503	SO:0001819	synonymous_variant	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1554C>T	X.37:g.48674608C>T			O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	CCDS14306.1																																																																																				0.652	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		T	48674608	C	T	48674608	2	4	552	1	0	0	0	0	0	0	0	1	7013	726	26	2		2	HDAC6	23	48674608	Silent	SNP	C	TCGA-CJ-6027-01A-11D-1669-08	7341036	48674608	106595952	79	29793											
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76952169	76952169	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chrX:76952169T>A	ENST00000373344.5	-	5	480	c.266A>T	c.(265-267)tAt>tTt	p.Y89F	ATRX_ENST00000395603.3_Missense_Mutation_p.Y89F|ATRX_ENST00000373341.1_Missense_Mutation_p.Y50F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	89					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.Y89F(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGATTCTACATACTTTGTTAC	0.308			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - Missense(2)|Unknown(1)	kidney(2)|bone(1)											100	90	94					X																	76952169		2202	4292	6494	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.266A>T	X.37:g.76952169T>A	ENSP00000362441:p.Tyr89Phe		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116505	0.77323	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862;ENST00000400861;ENST00000373341	D;D;D	0.96265	-3.96;-3.96;-3.96	5.13	5.13	0.70059	.	0.084915	0.48767	D	0.000177	D	0.97570	0.9204	M	0.68317	2.08	0.37235	D	0.905875	D;D;D;D	0.89917	0.998;1.0;0.998;0.998	D;D;D;D	0.87578	0.978;0.998;0.987;0.978	D	0.99940	1.1396	10	0.87932	D	0	-10.8107	14.2411	0.65956	0.0:0.0:0.0:1.0	.	89;89;89;89	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	F	89;89;84;50;50	ENSP00000362441:Y89F;ENSP00000378967:Y89F;ENSP00000362438:Y50F	ENSP00000362438:Y50F	Y	-	2	0	ATRX	76838825	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.789000	0.69029	1.810000	0.52873	0.345000	0.21793	TAT		0.308	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		A	76952169	T	A	76952169	3	1	552	1	0	0	0	0	1	0	0	0	1208	1406	49	5	7336	5	ATRX	23	76952169	Missense_Mutation	SNP	T	TCGA-CJ-6027-01A-11D-1669-08	28277561	76952169	78318391	80	29794											
AIFM1	9131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129289191	129289191	+	Intron	SNP	G	G	A			TCGA-CJ-6027-01A-11D-1669-08	TCGA-CJ-6027-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0483455-4cde-408f-b831-17223c03241a	8a6d1d13-52dd-44de-9bba-95cbb12056a0	g.chrX:129289191G>A	ENST00000287295.3	-	2	480				AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Silent_p.G59G	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.G59G(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CTAGGTTGCTGCCATCTTTCC	0.438																																																1	Substitution - coding silent(1)	kidney(1)											160	148	152					X																	129289191		2203	4300	6503	SO:0001627	intron_variant	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.249+1243C>T	X.37:g.129289191G>A			A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	CCDS14618.1																																																																																				0.438	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			A	129289191	G	A	129289191	1	1	552	0	1	0	0	0	0	0	0	0	426	1306	46	2		2	AIFM1	23	129289191	Intron	SNP	G	TCGA-CJ-6027-01A-11D-1669-08	52337022	129289191	25981369	81	29795											
CHIA	27159	broad.mit.edu;hgsc.bcm.edu	37	1	111857933	111857933	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:111857933T>C	ENST00000369740.1	+	6	459	c.356T>C	c.(355-357)tTc>tCc	p.F119S	CHIA_ENST00000353665.6_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Missense_Mutation_p.F11S|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000343320.6_Missense_Mutation_p.F119S	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	119					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.F119S(1)|p.F11S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGCCAGACTTTCATCACCTCA	0.542																																																2	Substitution - Missense(2)	kidney(2)											127	124	125					1																	111857933		2203	4300	6503	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.356T>C	1.37:g.111857933T>C	ENSP00000358755:p.Phe119Ser		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277787	0.80692	.	.	ENSG00000134216	ENST00000422815;ENST00000369740;ENST00000343320;ENST00000430615	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.72	4.72	0.59763	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.074511	0.52532	D	0.000070	T	0.55049	0.1896	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75320	-0.3359	10	0.72032	D	0.01	-25.0273	12.4506	0.55675	0.0:0.0:0.0:1.0	.	119	Q9BZP6	CHIA_HUMAN	S	63;119;119;11	ENSP00000387671:F63S;ENSP00000358755:F119S;ENSP00000341828:F119S;ENSP00000391132:F11S	ENSP00000341828:F119S	F	+	2	0	CHIA	111659456	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.160000	0.77495	1.885000	0.54596	0.533000	0.62120	TTC		0.542	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			C	111857933	T	C	111857933	3	2	553	1	0	0	0	0	1	0	0	0	3344	1783	62	3	374	3	CHIA	1	111857933	Missense_Mutation	SNP	T	TCGA-CJ-6028-01A-11D-1669-08		111857933	137392688	1	29796											
ST7L	54879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113124710	113124711	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:113124710_113124711GA>AT	ENST00000358039.4	-	9	1276_1277	c.972_973TC>AT	c.(970-975)ccTCct>ccATct	p.P325S	ST7L_ENST00000343210.7_Missense_Mutation_p.P325S|ST7L_ENST00000544629.1_Missense_Mutation_p.P260S|ST7L_ENST00000543570.1_Missense_Mutation_p.P308S|ST7L_ENST00000360743.4_Missense_Mutation_p.P325S|ST7L_ENST00000490067.1_Missense_Mutation_p.P308S|ST7L_ENST00000369668.2_Missense_Mutation_p.P325S|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000538187.1_Missense_Mutation_p.P269S|ST7L_ENST00000369666.1_Missense_Mutation_p.P308S|ST7L_ENST00000369669.1_Missense_Mutation_p.P142S	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	325					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)		p.P325S(2)|p.P324P(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGTAAGAGGAGGAAATTCTT	0.337																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	54879			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.972_973delinsAT	1.37:g.113124710_113124711delinsAT	ENSP00000350734:p.Pro325Ser		A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation|Silent	SNP	ENST00000358039.4	37	CCDS848.1																																																																																				0.337	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			AT	113124711	GA	AT	113124710	3	1	553	1	0	0	0	0	1	0	0	0	15235	1174	41	2	821	2	ST7L	1	113124710	Missense_Mutation	DNP	GA	TCGA-CJ-6028-01A-11D-1669-08	1266777	113124710	136125911	2	29797											
DCLRE1B	64858	broad.mit.edu;hgsc.bcm.edu	37	1	114454408	114454408	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:114454408G>C	ENST00000369563.3	+	4	1640	c.1194G>C	c.(1192-1194)aaG>aaC	p.K398N	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	398					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)	p.K398N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATCAAGAAGCAGTTGTTCC	0.488								Other identified genes with known or suspected DNA repair function																																								1	Substitution - Missense(1)	kidney(1)											112	120	117					1																	114454408		2203	4300	6503	SO:0001583	missense	64858			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1194G>C	1.37:g.114454408G>C	ENSP00000358576:p.Lys398Asn		Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138222	0.37728	.	.	ENSG00000118655	ENST00000369563	T	0.76839	-1.05	5.97	2.66	0.31614	.	0.514050	0.20190	N	0.097336	T	0.43853	0.1266	L	0.27053	0.805	0.35772	D	0.820967	P	0.38195	0.622	B	0.33750	0.169	T	0.49652	-0.8917	10	0.52906	T	0.07	0.0711	4.2288	0.10592	0.2157:0.1896:0.5947:0.0	.	398	Q9H816	DCR1B_HUMAN	N	398	ENSP00000358576:K398N	ENSP00000358576:K398N	K	+	3	2	DCLRE1B	114255931	0.984000	0.35163	0.997000	0.53966	0.452000	0.32318	0.364000	0.20325	1.471000	0.48121	0.655000	0.94253	AAG		0.488	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		C	114454408	G	C	114454408	3	2	553	1	0	0	0	0	1	0	0	0	4297	962	34	4	1208	4	DCLRE1B	1	114454408	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	1329698	114454408	134796213	3	29798											
CD1C	911	hgsc.bcm.edu;ucsc.edu	37	1	158262061	158262061	+	Silent	SNP	C	C	T	rs142044323	byFrequency	TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:158262061C>T	ENST00000368170.3	+	3	795	c.516C>T	c.(514-516)ggC>ggT	p.G172G		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	172					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGTATGAAGGCGTCACAGAAA	0.458													c|||	3	0.000599042	0.0023	0.0	5008	,	,		19173	0.0		0.0	False		,,,				2504	0.0															0								T		13,4393		0,13,2190	279	278	278		516	0.3	0	1	dbSNP_134	278	1,8599		0,1,4299	no	coding-synonymous	CD1C	NM_001765.2		0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076		172/334	158262061	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	911			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.516C>T	1.37:g.158262061C>T			Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	CCDS1175.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	-	3.265	-0.150454	0.06585	0.002951	1.16E-4	ENSG00000158481	ENST00000443761	.	.	.	3.36	0.319	0.15873	.	.	.	.	.	T	0.07999	0.0200	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34601	-0.9822	4	.	.	.	.	2.2955	0.04149	0.196:0.5015:0.1904:0.1121	.	.	.	.	C	107	.	.	R	+	1	0	CD1C	156528685	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	-0.324000	0.07986	0.082000	0.17018	-0.133000	0.14855	CGT		0.458	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		T	158262061	C	T	158262061	2	4	553	1	0	0	0	0	0	0	0	1	2978	755	27	1		1	CD1C	1	158262061	Silent	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	43807653	158262061	90988560	4	29799											
OR10K2	391107	broad.mit.edu;hgsc.bcm.edu	37	1	158390417	158390417	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:158390417C>A	ENST00000314902.2	-	1	239	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K80N(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAACCAGCATCTTGGGTACAA	0.498																																																1	Substitution - Missense(1)	kidney(1)											174	162	166					1																	158390417		2203	4300	6503	SO:0001583	missense	391107			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.240G>T	1.37:g.158390417C>A	ENSP00000324251:p.Lys80Asn			Missense_Mutation	SNP	ENST00000314902.2	37	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345021	0.41498	.	.	ENSG00000180708	ENST00000314902	T	0.00469	7.21	4.1	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.00440	0.0014	L	0.49513	1.565	0.27845	N	0.940944	D	0.89917	1.0	D	0.85130	0.997	T	0.52518	-0.8565	10	0.56958	D	0.05	.	10.985	0.47516	0.0:0.9046:0.0:0.0954	.	80	Q6IF99	O10K2_HUMAN	N	80	ENSP00000324251:K80N	ENSP00000324251:K80N	K	-	3	2	OR10K2	156657041	0.000000	0.05858	1.000000	0.80357	0.956000	0.61745	-0.289000	0.08365	1.049000	0.40321	0.467000	0.42956	AAG		0.498	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		A	158390417	C	A	158390417	3	1	553	1	0	0	0	0	1	0	0	0	10916	912	32	4	700	4	OR10K2	1	158390417	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	128356	158390417	90860204	5	29800											
FAM5C	339479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	190068174	190068174	+	Silent	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:190068174C>T	ENST00000367462.3	-	8	1506	c.1275G>A	c.(1273-1275)tcG>tcA	p.S425S	BRINP3_ENST00000534846.1_Silent_p.S323S	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	425					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.S425S(1)									GACACGTGCACGAGTGCGTCT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											54	41	45					1																	190068174		2203	4300	6503	SO:0001819	synonymous_variant	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1275G>A	1.37:g.190068174C>T			B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	CCDS1373.1																																																																																				0.567	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		T	190068174	C	T	190068174	2	4	553	1	0	0	0	0	0	0	0	1	5596	523	19	1		1	FAM5C	1	190068174	Silent	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	31677757	190068174	59182447	6	29801											
IARS2	55699	broad.mit.edu	37	1	220318982	220318982	+	Silent	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:220318982C>T	ENST00000302637.5	+	22	2987	c.2883C>T	c.(2881-2883)ctC>ctT	p.L961L	IARS2_ENST00000366922.1_Silent_p.L889L	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	961					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.L961L(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGAAATTCCTCATCAACTTAG	0.388																																																1	Substitution - coding silent(1)	kidney(1)											52	48	50					1																	220318982		2203	4300	6503	SO:0001819	synonymous_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2883C>T	1.37:g.220318982C>T			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	37	CCDS1523.1																																																																																				0.388	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		T	220318982	C	T	220318982	2	4	553	1	0	0	0	0	0	0	0	1	7476	813	29	2		2	IARS2	1	220318982	Silent	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	30250808	220318982	28931639	7	29802											
PRSS38	339501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	228004909	228004909	+	Splice_Site	SNP	G	G	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:228004909G>T	ENST00000366757.3	+	3	335		c.e3-1			NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CACCCCCACAGGGACAAGAAT	0.582																																																1	Unknown(1)	kidney(1)											101	89	93					1																	228004909		2203	4300	6503	SO:0001630	splice_region_variant	339501				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.312-1G>T	1.37:g.228004909G>T			Q7RTY6	Splice_Site	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833627	0.32421	.	.	ENSG00000185888	ENST00000366757	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4203	0.55516	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS38	226071532	0.876000	0.30132	0.811000	0.32455	0.024000	0.10985	3.033000	0.49743	2.641000	0.89580	0.655000	0.94253	.		0.582	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062	Intron	T	228004909	G	T	228004909	5	4	553	1	0	0	0	0	0	0	1	0	12632	1014	35	4	321	4	PRSS38	1	228004909	Splice_Site	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	7685927	228004909	21245712	8	29803											
LYST	1130	hgsc.bcm.edu;ucsc.edu	37	1	235950642	235950643	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:235950642_235950643insT	ENST00000389794.3	-	14	4893_4894	c.4719_4720insA	c.(4717-4722)aaagctfs	p.A1574fs	LYST_ENST00000389793.2_Frame_Shift_Ins_p.A1574fs|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1574					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGTAAAACAGCTTTCATGTCAT	0.386																																																0																																										SO:0001589	frameshift_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4720dupA	1.37:g.235950645_235950645dupT	ENSP00000374444:p.Ala1574fs		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Ins	INS	ENST00000389794.3	37	CCDS31062.1																																																																																				0.386	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			T	235950643	-	T	235950642	7	5	553	1	0	1	1	0	0	0	0	0	9130	797	28	0	6845	0	LYST	1	235950642	Frame_Shift_Ins	INS	-	TCGA-CJ-6028-01A-11D-1669-08	7945733	235950642	13299979	9	29804											
CTNNA2	1496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	80782891	80782891	+	Silent	SNP	G	G	T	rs374667703		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr2:80782891G>T	ENST00000402739.4	+	11	1619	c.1614G>T	c.(1612-1614)cgG>cgT	p.R538R	CTNNA2_ENST00000466387.1_Silent_p.R538R|CTNNA2_ENST00000540488.1_Silent_p.R538R|CTNNA2_ENST00000343114.3_Silent_p.R217R|CTNNA2_ENST00000496558.1_Silent_p.R538R|CTNNA2_ENST00000361291.4_Silent_p.R572R|CTNNA2_ENST00000541047.1_Silent_p.R538R	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	538					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R538R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCTGGACCGGACTGCAGGGG	0.507																																																1	Substitution - coding silent(1)	kidney(1)											84	83	84					2																	80782891		1877	4111	5988	SO:0001819	synonymous_variant	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1614G>T	2.37:g.80782891G>T			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37																																																																																					0.507	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		T	80782891	G	T	80782891	2	4	553	1	0	0	0	0	0	0	0	1	4015	1161	41	4		4	CTNNA2	2	80782891	Silent	SNP	G	TCGA-CJ-6028-01A-11D-1669-08		80782891	162416482	10	29805											
DNAH6	1768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	84780110	84780110	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr2:84780110G>C	ENST00000237449.6	+	9	1562	c.1554G>C	c.(1552-1554)atG>atC	p.M518I	DNAH6_ENST00000389394.3_Missense_Mutation_p.M518I|DNAH6_ENST00000398278.2_Missense_Mutation_p.M518I			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	518	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M97I(1)|p.M518I(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAGAACTAATGTTGACAGTCC	0.393																																																2	Substitution - Missense(2)	kidney(2)											188	182	184					2																	84780110		2203	4300	6503	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1554G>C	2.37:g.84780110G>C	ENSP00000237449:p.Met518Ile		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	1.065	-0.671692	0.03403	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.22134	1.97;2.1;1.97	5.31	-6.38	0.01957	.	0.463681	0.20139	N	0.098417	T	0.03827	0.0108	N	0.01352	-0.895	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33548	-0.9864	10	0.13853	T	0.58	.	3.4858	0.07619	0.096:0.1972:0.4132:0.2936	.	518;97	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	I	518	ENSP00000374045:M518I;ENSP00000381326:M518I;ENSP00000237449:M518I	ENSP00000237449:M518I	M	+	3	0	DNAH6	84633621	0.017000	0.18338	0.697000	0.30258	0.360000	0.29518	-0.856000	0.04290	-0.827000	0.04278	-1.097000	0.02148	ATG		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		C	84780110	G	C	84780110	3	2	553	1	0	0	0	0	1	0	0	0	4607	1377	48	4	1588	4	DNAH6	2	84780110	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	3997219	84780110	158419263	11	29806											
PROC	5624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128185973	128185973	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr2:128185973C>A	ENST00000234071.3	+	9	924	c.837C>A	c.(835-837)gaC>gaA	p.D279E	PROC_ENST00000422777.3_Missense_Mutation_p.D279E|PROC_ENST00000409048.1_Missense_Mutation_p.D313E|PROC_ENST00000453608.2_Missense_Mutation_p.D334E	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.D279E(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGGAGCTGGACCTGGACATCA	0.637																																																1	Substitution - Missense(1)	kidney(1)											92	78	82					2																	128185973		2203	4300	6503	SO:0001583	missense	5624			X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.837C>A	2.37:g.128185973C>A	ENSP00000234071:p.Asp279Glu		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.357|0.357	-0.941347|-0.941347	0.02322|0.02322	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777|ENST00000402125	D;D;D;D|.	0.87966|.	-2.32;-2.32;-2.32;-2.32|.	5.26|5.26	-2.07|-2.07	0.07276|0.07276	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.46442|.	D|.	0.000289|.	T|T	0.18425|0.18425	0.0442|0.0442	N|N	0.20445|0.20445	0.575|0.575	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.23735|.	0.037;0.09;0.0;0.006|.	B;B;B;B|.	0.17979|.	0.015;0.02;0.004;0.005|.	T|T	0.26292|0.26292	-1.0107|-1.0107	10|5	0.07990|.	T|.	0.79|.	.|.	2.9299|2.9299	0.05796|0.05796	0.1108:0.3766:0.1092:0.4033|0.1108:0.3766:0.1092:0.4033	.|.	334;335;313;279|.	B4DPQ7;B4DPQ3;E7END6;P04070|.	.;.;.;PROC_HUMAN|.	E|N	279;238;334;313;279|54	ENSP00000234071:D279E;ENSP00000404030:D334E;ENSP00000386679:D313E;ENSP00000409543:D279E|.	ENSP00000234071:D279E|.	D|T	+|+	3|2	2|0	PROC|PROC	127902443|127902443	0.000000|0.000000	0.05858|0.05858	0.131000|0.131000	0.22000|0.22000	0.338000|0.338000	0.28826|0.28826	-0.512000|-0.512000	0.06313|0.06313	-0.260000|-0.260000	0.09418|0.09418	-0.291000|-0.291000	0.09656|0.09656	GAC|ACC		0.637	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		A	128185973	C	A	128185973	3	1	553	1	0	0	0	0	1	0	0	0	12550	506	18	4	867	4	PROC	2	128185973	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	43405863	128185973	115013400	12	29807											
SPEG	10290	broad.mit.edu	37	2	220338227	220338227	+	Splice_Site	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr2:220338227C>A	ENST00000312358.7	+	17	4281	c.4149C>A	c.(4147-4149)ggC>ggA	p.G1383G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1383					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1383G(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCTCCCAGGCCCAACCCTGG	0.592																																																1	Substitution - coding silent(1)	kidney(1)											59	65	63					2																	220338227		2041	4177	6218	SO:0001630	splice_region_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4148-1C>A	2.37:g.220338227C>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																				0.592	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	Silent	A	220338227	C	A	220338227	5	1	553	1	0	0	0	0	0	0	1	0	15041	753	26	4	4227	4	SPEG	2	220338227	Splice_Site	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	92152254	220338227	22861146	13	29808											
PLXNA1	5361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	126708047	126708047	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr3:126708047G>A	ENST00000393409.2	+	1	611	c.611G>A	c.(610-612)cGt>cAt	p.R204H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R181H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	204	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.R181H(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTCCAGCCGTCGGCTCATG	0.617																																																1	Substitution - Missense(1)	kidney(1)											72	62	65					3																	126708047		2203	4300	6503	SO:0001583	missense	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.611G>A	3.37:g.126708047G>A	ENSP00000377061:p.Arg204His			Missense_Mutation	SNP	ENST00000393409.2	37	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	g	18.95	3.731941	0.69189	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.07444	3.19;3.19	3.87	3.0	0.34707	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.070617	0.56097	D	0.000032	T	0.37265	0.0997	M	0.93283	3.4	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	T	0.53158	-0.8478	10	0.87932	D	0	.	13.5415	0.61676	0.0:0.1575:0.8425:0.0	.	204	Q9UIW2	PLXA1_HUMAN	H	204;181	ENSP00000377061:R204H;ENSP00000251772:R181H	ENSP00000251772:R181H	R	+	2	0	PLXNA1	128190737	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.718000	0.84743	0.863000	0.35553	-0.323000	0.08544	CGT		0.617	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		A	126708047	G	A	126708047	3	1	553	1	0	0	0	0	1	0	0	0	12121	1145	40	1	613	1	PLXNA1	3	126708047	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08		126708047	71314383	14	29809											
PCDH10	57575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	134071474	134071474	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr4:134071474G>A	ENST00000264360.5	+	1	1005	c.179G>A	c.(178-180)aGg>aAg	p.R60K	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	60	Cadherin 1. {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)	p.R60K(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCAACTCAAGGACCCCTTAC	0.527																																																1	Substitution - Missense(1)	kidney(1)											94	96	96					4																	134071474		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.179G>A	4.37:g.134071474G>A	ENSP00000264360:p.Arg60Lys		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665637	0.29604	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.26810	1.71	4.77	4.77	0.60923	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.41605	D	0.000843	T	0.38825	0.1055	L	0.35542	1.07	0.50171	D	0.999858	D;B	0.52996	0.957;0.008	D;B	0.72075	0.976;0.064	T	0.04708	-1.0932	10	0.17832	T	0.49	.	17.5654	0.87918	0.0:0.0:1.0:0.0	.	60;60	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	60	ENSP00000264360:R60K	ENSP00000264360:R60K	R	+	2	0	PCDH10	134290924	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.674000	0.83992	2.462000	0.83206	0.555000	0.69702	AGG		0.527	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		A	134071474	G	A	134071474	3	1	553	1	0	0	0	0	1	0	0	0	11509	1000	35	2	181	2	PCDH10	4	134071474	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08		134071474	57082802	15	29810											
KIF2A	3796	broad.mit.edu	37	5	61649100	61649100	+	Splice_Site	SNP	A	A	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr5:61649100A>G	ENST00000401507.3	+	6	768		c.e6-1		KIF2A_ENST00000381103.2_Splice_Site|KIF2A_ENST00000506857.1_Splice_Site|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Splice_Site	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.?(2)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTTCTTTTCAGCACGTAGAA	0.318																																																2	Unknown(2)	kidney(2)											37	39	39					5																	61649100		2201	4294	6495	SO:0001630	splice_region_variant	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.458-1A>G	5.37:g.61649100A>G			A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Splice_Site	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694775	0.68386	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000506857	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3641	0.74507	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF2A	61684857	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	6.514000	0.73746	2.092000	0.63282	0.477000	0.44152	.		0.318	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520	Intron	G	61649100	A	G	61649100	5	3	553	1	0	0	0	0	0	0	1	0	8299	202	7	3	478	3	KIF2A	5	61649100	Splice_Site	SNP	A	TCGA-CJ-6028-01A-11D-1669-08		61649100	119266160	16	29811											
PCDHGC4	56098	broad.mit.edu;hgsc.bcm.edu	37	5	140865503	140865503	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr5:140865503G>T	ENST00000306593.1	+	1	763	c.763G>T	c.(763-765)Gca>Tca	p.A255S	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	255	Cadherin 3. {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)	p.A255S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGAGAGCGCACCAGCGGG	0.577																																																1	Substitution - Missense(1)	kidney(1)											56	60	59					5																	140865503		2203	4300	6503	SO:0001583	missense	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.763G>T	5.37:g.140865503G>T	ENSP00000306918:p.Ala255Ser		Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	6.771	0.511239	0.12883	.	.	ENSG00000242419	ENST00000306593	T	0.01725	4.67	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01870	0.0059	N	0.17564	0.495	0.09310	N	0.999999	P;B	0.44521	0.837;0.183	B;B	0.42851	0.4;0.116	T	0.58651	-0.7599	9	0.21540	T	0.41	.	13.9162	0.63899	0.0:0.0:0.8474:0.1526	.	255;255	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	S	255	ENSP00000306918:A255S	ENSP00000306918:A255S	A	+	1	0	PCDHGC4	140845687	0.000000	0.05858	0.970000	0.41538	0.968000	0.65278	0.687000	0.25407	2.528000	0.85240	0.462000	0.41574	GCA		0.577	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		T	140865503	G	T	140865503	3	4	553	1	0	0	0	0	1	0	0	0	11572	1087	38	4	765	4	PCDHGC4	5	140865503	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	79216403	140865503	40049757	17	29812											
HTR4	3360	hgsc.bcm.edu	37	5	147889404	147889404	+	Missense_Mutation	SNP	G	G	A	rs140360260		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr5:147889404G>A	ENST00000377888.3	-	6	829	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	HTR4_ENST00000354217.2_Missense_Mutation_p.R231W|HTR4_ENST00000362016.2_Missense_Mutation_p.R245W|HTR4_ENST00000360693.3_Missense_Mutation_p.R231W|HTR4_ENST00000520514.1_Missense_Mutation_p.R231W|HTR4_ENST00000521735.1_Missense_Mutation_p.R231W|HTR4_ENST00000314512.6_Missense_Mutation_p.R231W|HTR4_ENST00000517929.1_Missense_Mutation_p.R231W|HTR4_ENST00000521530.1_Missense_Mutation_p.R231W	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	231					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GCTCCTGCCCGTTGTAACATC	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21647	0.0		0.0	False		,,,				2504	0.0				GBM(120;370 1604 14007 17804 41573)											0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	100	82	88		691,691,691,691,691	4.2	1	5	dbSNP_134	88	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense	HTR4	NM_000870.5,NM_001040169.2,NM_001040172.2,NM_001040173.2,NM_199453.3	101,101,101,101,101	0,7,6496	AA,AG,GG		0.0349,0.0908,0.0538	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	231/389,231/388,231/361,231/429,231/379	147889404	7,12999	2203	4300	6503	SO:0001583	missense	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.691C>T	5.37:g.147889404G>A	ENSP00000367120:p.Arg231Trp		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	CCDS4291.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	13.61	2.288194	0.40494	9.08E-4	3.49E-4	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	6.17	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	U	0.000153	D	0.83727	0.5317	M	0.85462	2.755	0.58432	D	0.999996	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	0.91635	0.998;0.996;0.994;0.999;0.995;0.995;0.997	D	0.85713	0.1320	10	0.87932	D	0	.	10.3939	0.44190	0.0734:0.0:0.7261:0.2005	.	231;231;231;245;231;231;231	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	W	231;231;231;231;231;231;231;231;245	ENSP00000428320:R231W;ENSP00000346156:R231W;ENSP00000314906:R231W;ENSP00000430979:R231W;ENSP00000435904:R231W;ENSP00000427913:R231W;ENSP00000367120:R231W;ENSP00000353915:R231W;ENSP00000355037:R245W	ENSP00000314906:R231W	R	-	1	2	HTR4	147869597	1.000000	0.71417	0.997000	0.53966	0.007000	0.05969	3.925000	0.56484	1.632000	0.50472	-0.140000	0.14226	CGG		0.547	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		A	147889404	G	A	147889404	3	1	553	1	0	0	0	0	1	0	0	0	7451	1144	40	1	779	1	HTR4	5	147889404	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	7023901	147889404	33025856	18	29813											
SLIT3	6586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	168093623	168093623	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr5:168093623C>G	ENST00000519560.1	-	36	4827	c.4408G>C	c.(4408-4410)Gcc>Ccc	p.A1470P	SLIT3_ENST00000332966.8_Missense_Mutation_p.A1477P|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1470	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.A1470P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTTGGAGGCTGTGGCACAT	0.602																																					Ovarian(29;311 847 10864 17279 24903)											1	Substitution - Missense(1)	kidney(1)											83	81	82					5																	168093623		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4408G>C	5.37:g.168093623C>G	ENSP00000430333:p.Ala1470Pro		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589096	0.46110	.	.	ENSG00000184347	ENST00000519560;ENST00000332966	T;T	0.76448	-1.02;-1.02	5.09	3.28	0.37604	Cystine knot, C-terminal (2);	0.284114	0.40064	N	0.001195	T	0.66336	0.2779	L	0.36672	1.1	0.80722	D	1	P	0.37370	0.592	B	0.39562	0.303	T	0.62110	-0.6923	10	0.36615	T	0.2	.	6.6426	0.22917	0.0:0.6967:0.1514:0.1519	.	1470	O75094	SLIT3_HUMAN	P	1470;1477	ENSP00000430333:A1470P;ENSP00000332164:A1477P	ENSP00000332164:A1477P	A	-	1	0	SLIT3	168026201	0.153000	0.22777	0.985000	0.45067	0.291000	0.27294	0.608000	0.24223	1.130000	0.42092	0.561000	0.74099	GCC		0.602	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		G	168093623	C	G	168093623	3	3	553	1	0	0	0	0	1	0	0	0	14747	797	28	4	167	4	SLIT3	5	168093623	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	20204219	168093623	12821637	19	29814											
GFPT2	9945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179745870	179745870	+	Missense_Mutation	SNP	C	C	T	rs375382535		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr5:179745870C>T	ENST00000253778.8	-	10	1050	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	294					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.R294Q(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GCGCTTGACCCGGTGAATGGA	0.572																																																1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	0,4266		0,0,2133	65	72	69		881	4.5	1	5		69	1,8469		0,1,4234	no	missense	GFPT2	NM_005110.2	43	0,1,6367	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	294/683	179745870	1,12735	2133	4235	6368	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.881G>A	5.37:g.179745870C>T	ENSP00000253778:p.Arg294Gln		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232332	0.95207	0.0	1.18E-4	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.77489	0.96;-1.1	5.39	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	M	0.91768	3.24	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	D	0.91274	0.5046	9	.	.	.	-11.9515	13.9353	0.64021	0.0:0.9267:0.0:0.0732	.	294	O94808	GFPT2_HUMAN	Q	294;196	ENSP00000253778:R294Q;ENSP00000431125:R196Q	.	R	-	2	0	GFPT2	179678476	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.711000	0.84669	1.295000	0.44724	0.555000	0.69702	CGG		0.572	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		T	179745870	C	T	179745870	3	4	553	1	0	0	0	0	1	0	0	0	6348	652	23	1	1207	1	GFPT2	5	179745870	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	11652247	179745870	1169390	20	29815											
PI16	221476	broad.mit.edu;ucsc.edu	37	6	36922579	36922579	+	Silent	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr6:36922579C>T	ENST00000373674.3	+	1	371	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	15					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.L15L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						gctgccgctactgctactgct	0.602																																																1	Substitution - coding silent(1)	kidney(1)											47	48	48					6																	36922579		2203	4300	6503	SO:0001819	synonymous_variant	221476				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.43C>T	6.37:g.36922579C>T			Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Silent	SNP	ENST00000373674.3	37	CCDS34440.1																																																																																				0.602	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		T	36922579	C	T	36922579	2	4	553	1	0	0	0	0	0	0	0	1	11871	564	20	2		2	PI16	6	36922579	Silent	SNP	C	TCGA-CJ-6028-01A-11D-1669-08		36922579	134192488	21	29816											
SLC35A1	10559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	88218885	88218885	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr6:88218885T>C	ENST00000369552.4	+	7	905	c.878T>C	c.(877-879)tTa>tCa	p.L293S	C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369557.5_3'UTR|SLC35A1_ENST00000369556.3_Missense_Mutation_p.L234S|SLC35A1_ENST00000544441.1_Missense_Mutation_p.L159S	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	293					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)	p.L293S(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGTTTGGATTACAGATAAGT	0.393																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)											1	Substitution - Missense(1)	kidney(1)											172	159	164					6																	88218885		2203	4300	6503	SO:0001583	missense	10559			D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"Solute carriers"	11021	protein-coding gene	gene with protein product		605634	"solute carrier family 35 (UDP-galactose transporter), member 1"			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.878T>C	6.37:g.88218885T>C	ENSP00000358565:p.Leu293Ser		Q5W1L8	Missense_Mutation	SNP	ENST00000369552.4	37	CCDS5010.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480725	0.63849	.	.	ENSG00000164414	ENST00000369556;ENST00000544441;ENST00000369552	T;T;T	0.52983	0.64;0.64;0.64	5.36	4.19	0.49359	.	0.000000	0.64402	U	0.000011	T	0.43433	0.1247	L	0.48174	1.505	0.54753	D	0.999986	D;D;P	0.59357	0.966;0.985;0.507	P;P;B	0.58013	0.831;0.831;0.18	T	0.44605	-0.9317	10	0.56958	D	0.05	-44.5747	11.4617	0.50215	0.0:0.0712:0.0:0.9288	.	293;234;159	P78382;Q5W1L8;B4DEM1	S35A1_HUMAN;.;.	S	234;159;293	ENSP00000358569:L234S;ENSP00000438603:L159S;ENSP00000358565:L293S	ENSP00000358565:L293S	L	+	2	0	SLC35A1	88275604	1.000000	0.71417	0.998000	0.56505	0.782000	0.44232	7.655000	0.83696	0.968000	0.38212	0.377000	0.23210	TTA		0.393	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041446.1			C	88218885	T	C	88218885	3	2	553	1	0	0	0	0	1	0	0	0	14576	1764	61	3	904	3	SLC35A1	6	88218885	Missense_Mutation	SNP	T	TCGA-CJ-6028-01A-11D-1669-08	51296306	88218885	82896182	22	29817											
MANEA	79694	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	96053676	96053676	+	Missense_Mutation	SNP	C	C	G	rs201268456		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr6:96053676C>G	ENST00000358812.4	+	5	918	c.784C>G	c.(784-786)Ctt>Gtt	p.L262V	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	262	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.L262V(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TGGCAATGCTCTTCCTATGTT	0.368																																																1	Substitution - Missense(1)	kidney(1)											114	110	112					6																	96053676		2203	4300	6503	SO:0001583	missense	79694			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.784C>G	6.37:g.96053676C>G	ENSP00000351669:p.Leu262Val		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314137	0.60414	.	.	ENSG00000172469	ENST00000358812	D	0.93366	-3.21	6.16	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	M	0.87682	2.9	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.92585	0.6078	10	0.02654	T	1	-25.321	11.132	0.48351	0.0:0.8605:0.0:0.1395	.	262	Q5SRI9	MANEA_HUMAN	V	262	ENSP00000351669:L262V	ENSP00000351669:L262V	L	+	1	0	MANEA	96160397	0.978000	0.34361	0.972000	0.41901	0.563000	0.35712	2.468000	0.45102	2.937000	0.99478	0.650000	0.86243	CTT		0.368	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		G	96053676	C	G	96053676	3	3	553	1	0	0	0	0	1	0	0	0	9223	913	32	4	798	4	MANEA	6	96053676	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	7834791	96053676	75061391	23	29818											
PPIL4	85313	broad.mit.edu;hgsc.bcm.edu	37	6	149855873	149855873	+	Missense_Mutation	SNP	C	C	T	rs534916962	byFrequency	TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr6:149855873C>T	ENST00000253329.2	-	6	534	c.502G>A	c.(502-504)Gac>Aac	p.D168N		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	168					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.D168N(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TCAGGAGGGTCATCAAATGGA	0.299													C|||	3	0.000599042	0.0	0.0043	5008	,	,		15784	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											110	113	112					6																	149855873		2203	4297	6500	SO:0001583	missense	85313				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.502G>A	6.37:g.149855873C>T	ENSP00000253329:p.Asp168Asn		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859662	0.91433	.	.	ENSG00000131013	ENST00000253329	T	0.46063	0.88	5.64	5.64	0.86602	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (1);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	M	0.86420	2.815	0.80722	D	1	B;D	0.76494	0.092;0.999	B;D	0.64595	0.082;0.927	T	0.66412	-0.5930	10	0.46703	T	0.11	.	19.6922	0.96007	0.0:1.0:0.0:0.0	.	168;168	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	N	168	ENSP00000253329:D168N	ENSP00000253329:D168N	D	-	1	0	PPIL4	149897566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.113000	0.77095	2.658000	0.90341	0.555000	0.69702	GAC		0.299	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			T	149855873	C	T	149855873	3	4	553	1	0	0	0	0	1	0	0	0	12334	826	29	2	1008	2	PPIL4	6	149855873	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	53802197	149855873	21259194	24	29819											
SOD2	6648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160113748	160113748	+	Silent	SNP	G	G	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr6:160113748G>T	ENST00000546087.1	-	4	1860	c.33C>A	c.(31-33)gcC>gcA	p.A11A	SOD2_ENST00000367054.2_Silent_p.A57A|SOD2_ENST00000538183.2_Silent_p.A57A|SOD2_ENST00000367055.4_Silent_p.A57A|SOD2_ENST00000337404.4_Silent_p.A57A|SOD2_ENST00000444946.2_Silent_p.A57A|SOD2_ENST00000452684.2_Silent_p.A57A			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	57					age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784)	p.A57A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		TGTTCACGTAGGCCGCGTGGT	0.642																																																1	Substitution - coding silent(1)	kidney(1)											141	123	129					6																	160113748		2203	4300	6503	SO:0001819	synonymous_variant	6648			M36693	CCDS5265.1, CCDS34564.1	6q25	2008-02-05			ENSG00000112096	ENSG00000112096	1.15.1.1		11180	protein-coding gene	gene with protein product		147460					Standard	NM_000636		Approved		uc003qsg.3	P04179	OTTHUMG00000015940	ENST00000546087.1:c.33C>A	6.37:g.160113748G>T			B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	Silent	SNP	ENST00000546087.1	37																																																																																					0.642	SOD2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399943.1	NM_000636		T	160113748	G	T	160113748	2	4	553	1	0	0	0	0	0	0	0	1	14927	987	35	4		4	SOD2	6	160113748	Silent	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	10257875	160113748	11001319	25	29820											
STK31	56164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23826468	23826468	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr7:23826468G>A	ENST00000355870.3	+	20	2531	c.2412G>A	c.(2410-2412)atG>atA	p.M804I	STK31_ENST00000354639.3_Missense_Mutation_p.M781I|STK31_ENST00000428484.1_Missense_Mutation_p.M781I|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.M804I	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	804	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.M804I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGATCCTATGGCTTATCTGA	0.348																																																1	Substitution - Missense(1)	kidney(1)											190	171	177					7																	23826468		2203	4300	6503	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2412G>A	7.37:g.23826468G>A	ENSP00000348132:p.Met804Ile		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159402	0.21454	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.17	4.26	0.50523	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.392618	0.25698	N	0.028890	T	0.43411	0.1246	N	0.19112	0.55	0.25541	N	0.987174	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.009	T	0.24012	-1.0172	10	0.26408	T	0.33	-1.889	8.9138	0.35570	0.0:0.1401:0.5529:0.3069	.	804;804	B4DZ06;Q9BXU1	.;STK31_HUMAN	I	804;804;781;781	ENSP00000348132:M804I;ENSP00000411852:M804I;ENSP00000346660:M781I;ENSP00000406146:M781I	ENSP00000346660:M781I	M	+	3	0	STK31	23792993	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	2.067000	0.41461	1.117000	0.41842	0.484000	0.47621	ATG		0.348	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		A	23826468	G	A	23826468	3	1	553	1	0	0	0	0	1	0	0	0	15301	1348	47	2	2490	2	STK31	7	23826468	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08		23826468	135312195	26	29821											
ZMIZ2	83637	broad.mit.edu;hgsc.bcm.edu	37	7	44796728	44796728	+	Silent	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr7:44796728G>A	ENST00000309315.4	+	4	471	c.348G>A	c.(346-348)ggG>ggA	p.G116G	ZMIZ2_ENST00000265346.7_Silent_p.G116G|ZMIZ2_ENST00000413916.1_Silent_p.G84G|ZMIZ2_ENST00000441627.1_Silent_p.G116G|ZMIZ2_ENST00000433667.1_Silent_p.G84G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	116	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.G116G(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTACCCTGGGGCCCCCGGCT	0.642																																					NSCLC(20;604 852 1948 16908 50522)											1	Substitution - coding silent(1)	kidney(1)											13	16	15					7																	44796728		1939	4122	6061	SO:0001819	synonymous_variant	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.348G>A	7.37:g.44796728G>A			A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	CCDS43576.1																																																																																				0.642	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		A	44796728	G	A	44796728	2	1	553	1	0	0	0	0	0	0	0	1	17702	1219	43	2		2	ZMIZ2	7	44796728	Silent	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	20970260	44796728	114341935	27	29822											
MTERFD1	51001	broad.mit.edu	37	8	97258647	97258647	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr8:97258647G>A	ENST00000287025.3	-	5	811	c.713C>T	c.(712-714)gCa>gTa	p.A238V	MTERFD1_ENST00000523821.1_Missense_Mutation_p.A238V|MTERFD1_ENST00000524341.1_Missense_Mutation_p.A48V|MTERFD1_ENST00000522822.1_Missense_Mutation_p.A117V	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		238					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)	p.A238V(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGCAACATCTGCTTTACTGAA	0.348																																																1	Substitution - Missense(1)	kidney(1)											79	76	77					8																	97258647		2203	4300	6503	SO:0001583	missense	51001																														ENST00000287025.3:c.713C>T	8.37:g.97258647G>A	ENSP00000287025:p.Ala238Val		B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066347	0.55539	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000524341;ENST00000287025	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	6.02	5.15	0.70609	.	0.335919	0.35262	N	0.003328	T	0.11410	0.0278	L	0.52759	1.655	0.32892	D	0.512001	P;P	0.36438	0.553;0.553	B;B	0.26517	0.07;0.07	T	0.16928	-1.0386	10	0.40728	T	0.16	-15.714	9.6098	0.39657	0.0708:0.0:0.7895:0.1396	.	238;238	E5RIK9;Q96E29	.;MTER1_HUMAN	V	238;117;48;238	ENSP00000429400:A238V;ENSP00000430138:A117V;ENSP00000429267:A48V;ENSP00000287025:A238V	ENSP00000287025:A238V	A	-	2	0	MTERFD1	97327823	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.668000	0.61568	1.552000	0.49463	0.650000	0.86243	GCA		0.348	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			A	97258647	G	A	97258647	3	1	553	1	0	0	0	0	1	0	0	0	9921	1319	46	2	556	2	MTERFD1	8	97258647	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08		97258647	49105375	28	29823											
ZC3H3	23144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144550433	144550433	+	Silent	SNP	G	G	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr8:144550433G>C	ENST00000262577.5	-	8	2152	c.2121C>G	c.(2119-2121)acC>acG	p.T707T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	707					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.T707T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTTTCTTGCAGGTGCCCCGGA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											60	56	58					8																	144550433		2202	4300	6502	SO:0001819	synonymous_variant	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2121C>G	8.37:g.144550433G>C			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	CCDS6402.1																																																																																				0.652	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		C	144550433	G	C	144550433	2	2	553	1	0	0	0	0	0	0	0	1	17574	987	35	4		4	ZC3H3	8	144550433	Silent	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	47291786	144550433	1813589	29	29824											
NRBP2	340371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144920929	144920929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr8:144920929G>A	ENST00000442628.2	-	10	902	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	NRBP2_ENST00000327830.5_Nonsense_Mutation_p.Q12*	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2									p.Q261*(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCATTGGTCTGGATTTCCAGT	0.637																																																1	Substitution - Nonsense(1)	kidney(1)											52	50	50					8																	144920929		2203	4300	6503	SO:0001587	stop_gained	340371			BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.763C>T	8.37:g.144920929G>A	ENSP00000414055:p.Gln255*			Nonsense_Mutation	SNP	ENST00000442628.2	37	CCDS34959.2	.	.	.	.	.	.	.	.	.	.	G	37	6.529592	0.97641	.	.	ENSG00000185189	ENST00000442628;ENST00000327830;ENST00000530347	.	.	.	3.76	3.76	0.43208	.	0.385442	0.27155	U	0.020662	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.46	13.4471	0.61146	0.0:0.0:1.0:0.0	.	.	.	.	X	255;12;207	.	ENSP00000330271:Q12X	Q	-	1	0	NRBP2	144992917	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	7.707000	0.84623	1.839000	0.53478	0.549000	0.68633	CAG		0.637	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1	NM_178564		A	144920929	G	A	144920929	4	1	553	1	0	0	0	0	0	1	0	0	10645	1357	47	2	778	2	NRBP2	8	144920929	Nonsense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	370496	144920929	1443093	30	29825											
IFNA16	3449	broad.mit.edu	37	9	21217253	21217253	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr9:21217253A>C	ENST00000380216.1	-	1	57	c.52T>G	c.(52-54)Tcc>Gcc	p.S18A		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	18					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S18A(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GAACAGATGGATTTGTAGCTG	0.488																																																1	Substitution - Missense(1)	kidney(1)											79	79	79					9																	21217253		2203	4300	6503	SO:0001583	missense	3449				CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"Interferons"	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.52T>G	9.37:g.21217253A>C	ENSP00000369564:p.Ser18Ala		Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	4.693	0.128936	0.08981	.	.	ENSG00000147885	ENST00000380216	T	0.02916	4.11	2.62	-5.24	0.02789	Four-helical cytokine-like, core (1);	0.496524	0.19280	N	0.118200	T	0.03011	0.0089	M	0.66939	2.045	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.36163	-0.9759	10	0.24483	T	0.36	.	6.304	0.21129	0.1647:0.4893:0.0:0.3459	.	18	P05015	IFN16_HUMAN	A	18	ENSP00000369564:S18A	ENSP00000369564:S18A	S	-	1	0	IFNA16	21207253	0.000000	0.05858	0.000000	0.03702	0.269000	0.26545	-3.130000	0.00591	-2.638000	0.00430	0.155000	0.16302	TCC		0.488	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		C	21217253	A	C	21217253	3	2	553	1	0	0	0	0	1	0	0	0	7537	333	12	5	521	5	IFNA16	9	21217253	Missense_Mutation	SNP	A	TCGA-CJ-6028-01A-11D-1669-08		21217253	119996178	31	29826											
FRMPD1	22844	broad.mit.edu;ucsc.edu	37	9	37733482	37733482	+	Silent	SNP	A	A	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr9:37733482A>G	ENST00000539465.1	+	11	1601	c.1008A>G	c.(1006-1008)ggA>ggG	p.G336G	FRMPD1_ENST00000377765.3_Silent_p.G336G|FRMPD1_ENST00000541302.1_Silent_p.G205G|FRMPD1_ENST00000536622.1_Silent_p.G158G|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	336	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.G336G(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAGACTGGGGAATAGAGAACT	0.413																																																1	Substitution - coding silent(1)	kidney(1)											85	88	87					9																	37733482		2203	4300	6503	SO:0001819	synonymous_variant	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1008A>G	9.37:g.37733482A>G			B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	CCDS6612.1																																																																																				0.413	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		G	37733482	A	G	37733482	2	3	553	1	0	0	0	0	0	0	0	1	6059	233	9	3		3	FRMPD1	9	37733482	Silent	SNP	A	TCGA-CJ-6028-01A-11D-1669-08	16516229	37733482	103479949	32	29827											
GDA	9615	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	74863196	74863196	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr9:74863196C>G	ENST00000358399.3	+	14	1396	c.1303C>G	c.(1303-1305)Cga>Gga	p.R435G	GDA_ENST00000238018.4_Missense_Mutation_p.R435G|GDA_ENST00000545168.1_Missense_Mutation_p.R361G|GDA_ENST00000376986.1_Missense_Mutation_p.R357G|GDA_ENST00000376989.3_Missense_Mutation_p.R374G	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	435					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.R435G(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGGAGATGATCGAAATATTGA	0.403																																																2	Substitution - Missense(2)	kidney(2)											111	118	116					9																	74863196		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1303C>G	9.37:g.74863196C>G	ENSP00000351170:p.Arg435Gly		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627362	0.66901	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	.	.	.	5.67	5.67	0.87782	.	0.058866	0.64402	D	0.000002	D	0.84732	0.5537	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.982;0.993	D	0.87590	0.2490	9	0.87932	D	0	-7.9726	12.2743	0.54726	0.1693:0.8307:0.0:0.0	.	357;435;435	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	G	361;435;374;357;435;143	.	ENSP00000238018:R435G	R	+	1	2	GDA	74053016	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.173000	0.50839	2.680000	0.91292	0.563000	0.77884	CGA		0.403	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			G	74863196	C	G	74863196	3	3	553	1	0	0	0	0	1	0	0	0	6308	876	31	4	1357	4	GDA	9	74863196	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	37129714	74863196	66350235	33	29828											
DIP2C	22982	broad.mit.edu;hgsc.bcm.edu	37	10	332271	332271	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr10:332271C>T	ENST00000280886.6	-	34	4148	c.4061G>A	c.(4060-4062)cGg>cAg	p.R1354Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1354						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R1354Q(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AATTATAATCCGAACCCCTGG	0.463																																																1	Substitution - Missense(1)	kidney(1)											160	168	165					10																	332271		2203	4300	6503	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4061G>A	10.37:g.332271C>T	ENSP00000280886:p.Arg1354Gln		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918806	0.73098	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.40756	1.02	5.92	5.92	0.95590	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	L	0.33189	0.99	0.80722	D	1	B	0.26483	0.15	B	0.26202	0.067	T	0.16600	-1.0397	10	0.07813	T	0.8	-35.1959	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1354	Q9Y2E4	DIP2C_HUMAN	Q	1354;279	ENSP00000280886:R1354Q	ENSP00000280886:R1354Q	R	-	2	0	DIP2C	322271	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.976000	0.63785	2.804000	0.96469	0.655000	0.94253	CGG		0.463	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	332271	C	T	332271	3	4	553	1	0	0	0	0	1	0	0	0	4531	652	23	1	625	1	DIP2C	10	332271	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08		332271	135202476	34	29829											
CRTAC1	55118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99640010	99640010	+	Silent	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr10:99640010G>A	ENST00000370597.3	-	14	2170	c.1815C>T	c.(1813-1815)tgC>tgT	p.C605C	CRTAC1_ENST00000370591.2_Silent_p.C605C|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A591V|CRTAC1_ENST00000468549.1_5'Flank	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	605	EGF-like.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.C605C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACTCACCCACGCAGGCTGTGC	0.602																																																1	Substitution - coding silent(1)	kidney(1)											80	74	76					10																	99640010		2203	4300	6503	SO:0001819	synonymous_variant	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1815C>T	10.37:g.99640010G>A			B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	A	8.995	0.978680	0.18812	.	.	ENSG00000095713	ENST00000413387;ENST00000298819	T;T	0.35605	1.3;1.33	4.56	-2.11	0.07187	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11299	-1.0593	8	0.87932	D	0	-11.2329	12.8464	0.57831	0.4649:0.0:0.5351:0.0	.	487	Q5T4F6	.	V	487;591	ENSP00000408445:A487V;ENSP00000298819:A591V	ENSP00000298819:A591V	A	-	2	0	CRTAC1	99630000	0.992000	0.36948	0.988000	0.46212	0.450000	0.32258	0.426000	0.21363	-0.594000	0.05836	-1.455000	0.01032	GCG		0.602	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		A	99640010	G	A	99640010	2	1	553	1	0	0	0	0	0	0	0	1	3898	1079	38	1		1	CRTAC1	10	99640010	Silent	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	99307739	99640010	35894737	35	29830											
KIF18A	81930	hgsc.bcm.edu;ucsc.edu	37	11	28058129	28058129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr11:28058129delT	ENST00000263181.6	-	14	2321	c.2031delA	c.(2029-2031)aaafs	p.K677fs		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	677					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TATGCTGTCCTTTCAAGGGAG	0.378																																																0													75	74	74					11																	28058129		2202	4297	6499	SO:0001589	frameshift_variant	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2031delA	11.37:g.28058129delT	ENSP00000263181:p.Lys677fs		Q4VPE3|Q86VS5|Q9H0F3	Frame_Shift_Del	DEL	ENST00000263181.6	37	CCDS7867.1																																																																																				0.378	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		-	28058129	T	-	28058129	7	5	553	1	0	1	0	1	0	0	0	0	8282	1606	56	0	681	0	KIF18A	11	28058129	Frame_Shift_Del	DEL	T	TCGA-CJ-6028-01A-11D-1669-08		28058129	106948387	36	29831											
QSER1	79832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32953488	32953488	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr11:32953488G>C	ENST00000399302.2	+	4	632	c.297G>C	c.(295-297)ttG>ttC	p.L99F	QSER1_ENST00000527788.1_Missense_Mutation_p.L99F|QSER1_ENST00000527250.1_3'UTR	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	99								p.L99F(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ATGACCCTTTGCTACAAATCA	0.418																																																1	Substitution - Missense(1)	kidney(1)											136	131	132					11																	32953488		1890	4123	6013	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.297G>C	11.37:g.32953488G>C	ENSP00000382241:p.Leu99Phe		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849438	0.51270	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.54071	0.59;0.59	5.6	4.68	0.58851	.	0.123875	0.35124	N	0.003438	T	0.66886	0.2835	M	0.70275	2.135	0.32294	N	0.565873	D;D	0.64830	0.994;0.976	P;P	0.61940	0.896;0.79	T	0.74284	-0.3715	10	0.62326	D	0.03	.	12.0927	0.53736	0.1377:0.0:0.8623:0.0	.	99;99	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	F	99	ENSP00000382241:L99F;ENSP00000432766:L99F	ENSP00000078652:L99F	L	+	3	2	QSER1	32910064	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.151000	0.31651	2.650000	0.89964	0.655000	0.94253	TTG		0.418	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		C	32953488	G	C	32953488	3	2	553	1	0	0	0	0	1	0	0	0	12888	1310	46	4	303	4	QSER1	11	32953488	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	4895359	32953488	102053028	37	29832											
OR5L1	219437	broad.mit.edu;hgsc.bcm.edu	37	11	55579228	55579228	+	Missense_Mutation	SNP	G	G	A	rs376731285		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr11:55579228G>A	ENST00000333973.2	+	1	375	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G96R(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCCTTCCTAGGGTGCATGGT	0.473																																																1	Substitution - Missense(1)	kidney(1)						G	ARG/GLY	1,4399	2.1+/-5.4	0,1,2199	227	205	212		286	4.2	0	11		212	0,8592		0,0,4296	no	missense	OR5L1	NM_001004738.1	125	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	96/312	55579228	1,12991	2200	4296	6496	SO:0001583	missense	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.286G>A	11.37:g.55579228G>A	ENSP00000335529:p.Gly96Arg		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	13.84	2.357589	0.41801	2.27E-4	0.0	ENSG00000186117	ENST00000333973	T	0.09817	2.94	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.617496	0.14582	N	0.310798	T	0.15869	0.0382	L	0.58810	1.83	0.09310	N	1	B	0.23854	0.092	B	0.27262	0.078	T	0.11743	-1.0575	10	0.72032	D	0.01	-0.9521	15.1425	0.72620	0.0:0.0:1.0:0.0	.	96	Q8NGL2	OR5L1_HUMAN	R	96	ENSP00000335529:G96R	ENSP00000335529:G96R	G	+	1	0	OR5L1	55335804	0.790000	0.28787	0.002000	0.10522	0.114000	0.19823	4.336000	0.59304	1.880000	0.54463	0.435000	0.28638	GGG		0.473	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		A	55579228	G	A	55579228	3	1	553	1	0	0	0	0	1	0	0	0	11172	1000	35	2	288	2	OR5L1	11	55579228	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	22625740	55579228	79427288	38	29833											
OR5W2	390148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55681565	55681565	+	Missense_Mutation	SNP	C	C	T	rs148084259		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr11:55681565C>T	ENST00000344514.1	-	1	493	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165H(4)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAAGCATAGGCGGAAGGCCAG	0.428																																					Melanoma(48;171 1190 15239 43886 49348)											4	Substitution - Missense(4)	cervix(1)|large_intestine(1)|stomach(1)|kidney(1)						C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	87	77	80		494	1.5	0	11	dbSNP_134	80	0,8592		0,0,4296	yes	missense	OR5W2	NM_001001960.1	29	0,2,6495	TT,TC,CC		0.0,0.0454,0.0154	benign	165/311	55681565	2,12992	2201	4296	6497	SO:0001583	missense	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.494G>A	11.37:g.55681565C>T	ENSP00000342448:p.Arg165His			Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	3.073	-0.190656	0.06299	4.54E-4	0.0	ENSG00000187612	ENST00000344514	T	0.00169	8.63	4.77	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.602095	0.13398	N	0.390838	T	0.00144	0.0004	L	0.35341	1.055	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.18085	-1.0348	10	0.41790	T	0.15	.	5.688	0.17813	0.0:0.5609:0.1582:0.2809	.	165	Q8NH69	OR5W2_HUMAN	H	165	ENSP00000342448:R165H	ENSP00000342448:R165H	R	-	2	0	OR5W2	55438141	0.000000	0.05858	0.019000	0.16419	0.048000	0.14542	-3.276000	0.00530	0.435000	0.26365	0.549000	0.68633	CGC		0.428	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		T	55681565	C	T	55681565	3	4	553	1	0	0	0	0	1	0	0	0	11187	768	27	1	440	1	OR5W2	11	55681565	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	102337	55681565	79324951	39	29834											
OR10G7	390265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123908892	123908892	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr11:123908892C>T	ENST00000330487.5	-	1	825	c.817G>A	c.(817-819)Gtt>Att	p.V273I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V273I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTGTAGAAAACGGCCACAACC	0.512																																																1	Substitution - Missense(1)	kidney(1)											104	95	98					11																	123908892		2200	4299	6499	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.817G>A	11.37:g.123908892C>T	ENSP00000329689:p.Val273Ile		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.272474	0.01421	.	.	ENSG00000182634	ENST00000330487	T	0.00249	8.44	3.13	0.11	0.14611	GPCR, rhodopsin-like superfamily (1);	0.439409	0.16781	N	0.199788	T	0.00144	0.0004	L	0.33668	1.02	0.09310	N	1	B	0.14805	0.011	B	0.20577	0.03	T	0.18085	-1.0348	10	0.37606	T	0.19	.	6.1429	0.20269	0.0:0.5689:0.1503:0.2809	.	273	Q8NGN6	O10G7_HUMAN	I	273	ENSP00000329689:V273I	ENSP00000329689:V273I	V	-	1	0	OR10G7	123414102	0.000000	0.05858	0.886000	0.34754	0.039000	0.13416	-0.342000	0.07801	0.168000	0.19655	-1.334000	0.01262	GTT		0.512	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		T	123908892	C	T	123908892	3	4	553	1	0	0	0	0	1	0	0	0	10904	536	19	1	122	1	OR10G7	11	123908892	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	68227327	123908892	11097624	40	29835											
ADAMTS20	80070	broad.mit.edu	37	12	43822466	43822466	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr12:43822466C>A	ENST00000389420.3	-	25	3625	c.3626G>T	c.(3625-3627)gGa>gTa	p.G1209V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G1209V|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G327V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1209	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G1209V(1)|p.W1209L(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGCCACTCTCCACAAGGGGT	0.353																																																2	Substitution - Missense(2)	kidney(2)											58	53	55					12																	43822466		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3626G>T	12.37:g.43822466C>A	ENSP00000374071:p.Gly1209Val		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588576	0.86851	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.2	5.2	0.72013	.	0.000000	0.49916	D	0.000140	T	0.76385	0.3980	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.97110	0.78;1.0	T	0.76132	-0.3071	10	0.51188	T	0.08	.	19.6349	0.95726	0.0:1.0:0.0:0.0	.	1209;327	P59510;E9PBD5	ATS20_HUMAN;.	V	1209;339;327;1209;1209	ENSP00000374071:G1209V;ENSP00000447427:G339V;ENSP00000378911:G327V;ENSP00000448341:G1209V	ENSP00000374068:G1209V	G	-	2	0	ADAMTS20	42108733	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.699000	0.68310	2.803000	0.96430	0.585000	0.79938	GGA		0.353	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		A	43822466	C	A	43822466	3	1	553	1	0	0	0	0	1	0	0	0	266	855	30	4	2165	4	ADAMTS20	12	43822466	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08		43822466	90029429	41	29836											
ATP11A	23250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	113485756	113485756	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr13:113485756G>A	ENST00000487903.1	+	13	1377	c.1289G>A	c.(1288-1290)tGc>tAc	p.C430Y	ATP11A_ENST00000375630.2_Missense_Mutation_p.C430Y|ATP11A_ENST00000375645.3_Missense_Mutation_p.C430Y|ATP11A_ENST00000283558.8_Missense_Mutation_p.C430Y			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	430					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.C430Y(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AAGGAGTGCTGCATCGAAGGC	0.582																																																2	Substitution - Missense(2)	kidney(2)											172	120	138					13																	113485756		2203	4300	6503	SO:0001583	missense	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1289G>A	13.37:g.113485756G>A	ENSP00000420387:p.Cys430Tyr		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.179458|3.179458	0.57800|0.57800	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12	5.45|5.45	5.45|5.45	0.79879|0.79879	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77391|0.77391	0.4123|0.4123	L|L	0.58428|0.58428	1.81|1.81	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.76494	.|0.999;0.082;0.015	.|D;B;B	.|0.75020	.|0.985;0.065;0.105	T|T	0.78999|0.78999	-0.1982|-0.1982	5|10	.|0.87932	.|D	.|0	.|.	19.2891|19.2891	0.94092|0.94092	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|430;430;430	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	T|Y	405|430	.|ENSP00000420387:C430Y;ENSP00000364781:C430Y;ENSP00000364796:C430Y;ENSP00000283558:C430Y	.|ENSP00000283558:C430Y	A|C	+|+	1|2	0|0	ATP11A|ATP11A	112533757|112533757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.362000|7.362000	0.79507|0.79507	2.570000|2.570000	0.86706|0.86706	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.582	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113485756	G	A	113485756	3	1	553	1	0	0	0	0	1	0	0	0	1119	1319	46	2	1339	2	ATP11A	13	113485756	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08		113485756	1684122	42	29837											
MMP14	4323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23310798	23310798	+	Missense_Mutation	SNP	G	G	T	rs201672796		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr14:23310798G>T	ENST00000311852.6	+	2	468	c.207G>T	c.(205-207)caG>caT	p.Q69H	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	69					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)	p.Q69H(1)		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)	CTGCCATGCAGAAGTTTTACG	0.562																																																1	Substitution - Missense(1)	kidney(1)											99	77	84					14																	23310798		2203	4300	6503	SO:0001583	missense	4323				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.207G>T	14.37:g.23310798G>T	ENSP00000308208:p.Gln69His		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488704	0.84962	.	.	ENSG00000157227	ENST00000311852;ENST00000548761	D;D	0.85258	-1.96;-1.96	5.64	4.74	0.60224	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	H	0.97852	4.09	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94667	0.7853	10	0.87932	D	0	.	9.0713	0.36493	0.1718:0.0:0.8282:0.0	.	69	P50281	MMP14_HUMAN	H	69;75	ENSP00000308208:Q69H;ENSP00000446989:Q75H	ENSP00000308208:Q69H	Q	+	3	2	MMP14	22380638	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.820000	0.62671	1.351000	0.45789	0.650000	0.86243	CAG		0.562	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		T	23310798	G	T	23310798	3	4	553	1	0	0	0	0	1	0	0	0	9655	933	33	4	213	4	MMP14	14	23310798	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08		23310798	84038742	43	29838											
CAPN3	825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42652148	42652148	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr15:42652148C>T	ENST00000397163.3	+	1	364	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000318023.7_Missense_Mutation_p.R49C|CAPN3_ENST00000349748.3_Missense_Mutation_p.R49C|CAPN3_ENST00000357568.3_Missense_Mutation_p.R49C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	49					apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R49C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATCATCAGCCGCAATTTTCC	0.522																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM076055	CAPN3	M							123	139	134					15																	42652148		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.145C>T	15.37:g.42652148C>T	ENSP00000380349:p.Arg49Cys		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969580	0.74246	.	.	ENSG00000092529	ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.98	5.01	0.66863	.	0.182443	0.37483	U	0.002080	D	0.96778	0.8948	L	0.27053	0.805	0.50813	D	0.999894	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.988;0.999	D	0.96743	0.9548	10	0.87932	D	0	.	13.8374	0.63417	0.2674:0.7326:0.0:0.0	.	49;49;49	P20807-2;P20807-3;P20807	.;.;CAN3_HUMAN	C	49	ENSP00000380349:R49C;ENSP00000350181:R49C;ENSP00000183936:R49C;ENSP00000326281:R49C	ENSP00000326281:R49C	R	+	1	0	CAPN3	40439440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.004000	0.40854	2.838000	0.97847	0.655000	0.94253	CGC		0.522	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			T	42652148	C	T	42652148	3	4	553	1	0	0	0	0	1	0	0	0	2630	652	23	1	199	1	CAPN3	15	42652148	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08		42652148	59879244	44	29839											
TEKT5	146279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10788652	10788652	+	Missense_Mutation	SNP	C	C	A	rs61731533	byFrequency	TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr16:10788652C>A	ENST00000283025.2	-	1	150	c.79G>T	c.(79-81)Gta>Tta	p.V27L	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	27						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.V27L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGCGCCTGTACAGCTGGCAGT	0.552																																																1	Substitution - Missense(1)	kidney(1)											64	57	60					16																	10788652		2197	4300	6497	SO:0001583	missense	146279				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.79G>T	16.37:g.10788652C>A	ENSP00000283025:p.Val27Leu		A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	10.57	1.386290	0.25031	.	.	ENSG00000153060	ENST00000283025	T	0.02944	4.1	4.46	0.0371	0.14195	.	1.902590	0.02814	N	0.124729	T	0.03477	0.0100	L	0.36672	1.1	0.09310	N	1	B	0.20887	0.049	B	0.14023	0.01	T	0.45483	-0.9258	10	0.30854	T	0.27	-3.4485	8.1108	0.30914	0.0:0.5188:0.0:0.4812	.	27	Q96M29	TEKT5_HUMAN	L	27	ENSP00000283025:V27L	ENSP00000283025:V27L	V	-	1	0	TEKT5	10696153	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.259000	0.18405	0.162000	0.19483	-0.291000	0.09656	GTA		0.552	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		A	10788652	C	A	10788652	3	1	553	1	0	0	0	0	1	0	0	0	15761	478	17	4	1406	4	TEKT5	16	10788652	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08		10788652	79566101	45	29840											
PDXDC1	23042	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15129348	15129348	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr16:15129348A>G	ENST00000396410.4	+	22	2142	c.2045A>G	c.(2044-2046)cAa>cGa	p.Q682R	PDXDC1_ENST00000450288.2_Missense_Mutation_p.Q654R|PDXDC1_ENST00000447912.2_Missense_Mutation_p.Q591R|PDXDC1_ENST00000569715.1_Missense_Mutation_p.Q655R|PDXDC1_ENST00000563679.1_Missense_Mutation_p.Q700R|PDXDC1_ENST00000325823.7_Missense_Mutation_p.Q667R|PDXDC1_ENST00000535621.2_Intron	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	682					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.Q682R(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TACAAAGCACAAGGTGCAGGA	0.582																																																1	Substitution - Missense(1)	kidney(1)											43	40	41					16																	15129348		2197	4300	6497	SO:0001583	missense	23042			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.2045A>G	16.37:g.15129348A>G	ENSP00000379691:p.Gln682Arg		B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.501142	0.64298	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000396410;ENST00000450288	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83238	0.5211	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;P	0.65010	0.931;0.931;0.931;0.886	D	0.85575	0.1236	10	0.87932	D	0	-8.4431	15.3959	0.74794	1.0:0.0:0.0:0.0	.	654;591;654;682	E7EPL4;E7EMH5;B4DR55;Q6P996	.;.;.;PDXD1_HUMAN	R	667;591;682;654	ENSP00000322807:Q667R;ENSP00000400310:Q591R;ENSP00000379691:Q682R;ENSP00000391147:Q654R	ENSP00000322807:Q667R	Q	+	2	0	PDXDC1	15036849	1.000000	0.71417	0.986000	0.45419	0.163000	0.22366	5.855000	0.69510	2.231000	0.72958	0.460000	0.39030	CAA		0.582	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		G	15129348	A	G	15129348	3	3	553	1	0	0	0	0	1	0	0	0	11698	130	5	3	2131	3	PDXDC1	16	15129348	Missense_Mutation	SNP	A	TCGA-CJ-6028-01A-11D-1669-08	4340696	15129348	75225405	46	29841											
ACD	65057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67692130	67692130	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr16:67692130G>A	ENST00000393919.4	-	10	1487	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	ACD_ENST00000219251.8_Missense_Mutation_p.A405V|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	408	Ser-rich.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.A405V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGTGGCAGGGGCTGAGCAGAT	0.662																																																1	Substitution - Missense(1)	kidney(1)											51	58	56					16																	67692130		2198	4300	6498	SO:0001583	missense	65057			AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"TIN2 interacting protein 1", "POT1 and TIN2 organizing protein"	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.1223C>T	16.37:g.67692130G>A	ENSP00000377496:p.Ala408Val		Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040433	0.35989	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.36520	1.25;1.25	3.74	1.58	0.23477	.	0.946614	0.08798	N	0.892166	T	0.19046	0.0457	N	0.14661	0.345	0.09310	N	1	B;B	0.16396	0.01;0.017	B;B	0.12156	0.003;0.007	T	0.22941	-1.0202	10	0.29301	T	0.29	-0.7539	4.0071	0.09607	0.1252:0.0:0.6425:0.2323	.	408;405	Q96AP0;Q96AP0-2	ACD_HUMAN;.	V	405;408	ENSP00000219251:A405V;ENSP00000377496:A408V	ENSP00000219251:A405V	A	-	2	0	ACD	66249631	0.004000	0.15560	0.035000	0.18076	0.171000	0.22731	1.183000	0.32041	0.919000	0.36945	0.462000	0.41574	GCC		0.662	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		A	67692130	G	A	67692130	3	1	553	1	0	0	0	0	1	0	0	0	135	1203	42	2	423	2	ACD	16	67692130	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08	52562782	67692130	22662623	47	29842											
NFE2L1	4779	broad.mit.edu;ucsc.edu	37	17	46128663	46128663	+	Silent	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr17:46128663C>A	ENST00000362042.3	+	2	799	c.183C>A	c.(181-183)acC>acA	p.T61T	NFE2L1_ENST00000357480.5_Silent_p.T61T|NFE2L1_ENST00000585291.1_Silent_p.T61T|NFE2L1_ENST00000361665.3_Silent_p.T61T	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	61					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.T61T(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGGAATACCTTGGATGGCT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											104	102	102					17																	46128663		2203	4300	6503	SO:0001819	synonymous_variant	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.183C>A	17.37:g.46128663C>A			D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	CCDS11524.1																																																																																				0.567	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		A	46128663	C	A	46128663	2	1	553	1	0	0	0	0	0	0	0	1	10369	668	24	4		4	NFE2L1	17	46128663	Silent	SNP	C	TCGA-CJ-6028-01A-11D-1669-08		46128663	35066547	48	29843											
MAP3K10	4294	broad.mit.edu	37	19	40720964	40720964	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr19:40720964G>T	ENST00000253055.3	+	10	2918	c.2630G>T	c.(2629-2631)cGc>cTc	p.R877L		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	877					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.R877L(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTCCCAGGCCGCCCCACCACC	0.711																																																1	Substitution - Missense(1)	kidney(1)											9	13	11					19																	40720964		2166	4241	6407	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2630G>T	19.37:g.40720964G>T	ENSP00000253055:p.Arg877Leu		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242042	0.79912	.	.	ENSG00000130758	ENST00000253055	D	0.81739	-1.53	4.67	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	L	0.59436	1.845	0.44282	D	0.997147	P	0.48407	0.91	B	0.38056	0.264	T	0.76578	-0.2908	10	0.87932	D	0	.	10.6105	0.45419	0.0938:0.0:0.9062:0.0	.	877	Q02779	M3K10_HUMAN	L	877	ENSP00000253055:R877L	ENSP00000253055:R877L	R	+	2	0	MAP3K10	45412804	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	3.850000	0.55918	1.204000	0.43247	0.561000	0.74099	CGC		0.711	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		T	40720964	G	T	40720964	3	4	553	1	0	0	0	0	1	0	0	0	9246	1087	38	4	2668	4	MAP3K10	19	40720964	Missense_Mutation	SNP	G	TCGA-CJ-6028-01A-11D-1669-08		40720964	18408019	49	29844											
PLAUR	5329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44160640	44160640	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr19:44160640C>T	ENST00000340093.3	-	4	692	c.463G>A	c.(463-465)Ggt>Agt	p.G155S	PLAUR_ENST00000339082.3_Missense_Mutation_p.G155S|PLAUR_ENST00000221264.4_Missense_Mutation_p.G155S|PLAUR_ENST00000601723.1_Missense_Mutation_p.G155S	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	155	UPAR/Ly6 2.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.G155S(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCTTCTTCACCTTCCTGGATC	0.577																																																2	Substitution - Missense(2)	kidney(2)											153	146	148					19																	44160640		2203	4300	6503	SO:0001583	missense	5329				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"CD molecules"	9053	protein-coding gene	gene with protein product	"urokinase-type plasminogen activator (uPA) receptor", "urokinase plasminogen activator surface receptor"	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.463G>A	19.37:g.44160640C>T	ENSP00000339328:p.Gly155Ser		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492893	0.26774	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.28666	1.6;1.6;1.6	1.23	1.23	0.21249	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.302701	0.18554	U	0.137822	T	0.13415	0.0325	N	0.08118	0	0.28777	N	0.90007	B;B;B;B	0.32101	0.251;0.088;0.088;0.356	B;B;B;B	0.32289	0.046;0.143;0.143;0.128	T	0.11867	-1.0570	10	0.48119	T	0.1	0.1181	5.3503	0.16032	0.0:1.0:0.0:0.0	.	155;155;155;155	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	S	155	ENSP00000342049:G155S;ENSP00000339328:G155S;ENSP00000221264:G155S	ENSP00000221264:G155S	G	-	1	0	PLAUR	48852480	0.054000	0.20591	0.152000	0.22495	0.019000	0.09904	0.915000	0.28638	0.308000	0.22923	0.313000	0.20887	GGT		0.577	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		T	44160640	C	T	44160640	3	4	553	1	0	0	0	0	1	0	0	0	12025	681	24	2	656	2	PLAUR	19	44160640	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	3439676	44160640	14968343	50	29845											
EPN1	29924	broad.mit.edu	37	19	56204133	56204133	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr19:56204133C>G	ENST00000270460.6	+	8	1459	c.1148C>G	c.(1147-1149)cCt>cGt	p.P383R	EPN1_ENST00000085079.7_Missense_Mutation_p.P358R|AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Missense_Mutation_p.P469R	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	383	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P469R(1)|p.P383R(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGAGGGTCACCTGCCAAGCCC	0.632																																																2	Substitution - Missense(2)	kidney(2)											11	14	13					19																	56204133		1928	4116	6044	SO:0001583	missense	29924			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1148C>G	19.37:g.56204133C>G	ENSP00000270460:p.Pro383Arg		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.205052	0.22205	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15603	2.46;2.44;2.41	3.44	1.24	0.21308	.	0.746779	0.12248	N	0.485853	T	0.26484	0.0647	L	0.39898	1.24	0.80722	D	1	P;P;P;D	0.76494	0.668;0.527;0.668;0.999	B;B;B;D	0.80764	0.352;0.193;0.352;0.994	T	0.08617	-1.0713	10	0.23891	T	0.37	-0.1205	7.5247	0.27647	0.0:0.7335:0.1676:0.0988	.	344;469;383;358	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	R	383;358;344;469	ENSP00000270460:P383R;ENSP00000085079:P358R;ENSP00000406209:P469R	ENSP00000085079:P358R	P	+	2	0	EPN1	60895945	0.980000	0.34600	0.516000	0.27786	0.011000	0.07611	3.236000	0.51336	0.282000	0.22254	0.462000	0.41574	CCT		0.632	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		G	56204133	C	G	56204133	3	3	553	1	0	0	0	0	1	0	0	0	5187	681	24	4	1515	4	EPN1	19	56204133	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	12043493	56204133	2924850	51	29846											
PTPRT	11122	hgsc.bcm.edu;ucsc.edu	37	20	40727124	40727137	+	Frame_Shift_Del	DEL	CCAGAAGTCTGCCA	CCAGAAGTCTGCCA	-	rs370717549	byFrequency	TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	CCAGAAGTCTGCCA	CCAGAAGTCTGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr20:40727124_40727137delCCAGAAGTCTGCCA	ENST00000373187.1	-	27	3769_3782	c.3770_3783delTGGCAGACTTCTGG	c.(3769-3783)gtggcagacttctggfs	p.VADFW1257fs	PTPRT_ENST00000373198.4_Frame_Shift_Del_p.VADFW1276fs|PTPRT_ENST00000373193.3_Frame_Shift_Del_p.VADFW1260fs|PTPRT_ENST00000373201.1_Frame_Shift_Del_p.VADFW1247fs|PTPRT_ENST00000356100.2_Frame_Shift_Del_p.VADFW1266fs|PTPRT_ENST00000373184.1_Frame_Shift_Del_p.VADFW1267fs|PTPRT_ENST00000373190.1_Frame_Shift_Del_p.VADFW1256fs			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1257	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACACCAGCCTCCAGAAGTCTGCCACGGTGTTGGG	0.561																																																0																																										SO:0001589	frameshift_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3770_3783delTGGCAGACTTCTGG	20.37:g.40727124_40727137delCCAGAAGTCTGCCA	ENSP00000362283:p.Val1257fs		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Frame_Shift_Del	DEL	ENST00000373187.1	37	CCDS42874.1																																																																																				0.561	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			-	40727137	CCAGAAGTCTGCCA	-	40727124	7	5	553	1	0	1	0	1	0	0	0	0	12818	856	30	0	562	0	PTPRT	20	40727124	Frame_Shift_Del	DEL	CCAGAAGTCTGCCA	TCGA-CJ-6028-01A-11D-1669-08		40727124	22298396	52	29847											
HMOX1	3162	broad.mit.edu	37	22	35785885	35785885	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr22:35785885C>A	ENST00000216117.8	+	4	1004	c.665C>A	c.(664-666)aCc>aAc	p.T222N		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	222					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.T222N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GAGCTGCTGACCCATGACACC	0.562																																																1	Substitution - Missense(1)	kidney(1)											68	63	65					22																	35785885		2203	4300	6503	SO:0001583	missense	3162				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.665C>A	22.37:g.35785885C>A	ENSP00000216117:p.Thr222Asn			Missense_Mutation	SNP	ENST00000216117.8	37	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823397	0.32237	.	.	ENSG00000100292	ENST00000216117	T	0.23348	1.91	5.33	1.97	0.26223	Haem oxygenase-like, multi-helical (2);	1.590510	0.02872	N	0.131665	T	0.22781	0.0550	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16070	-1.0415	10	0.29301	T	0.29	-8.1665	4.5336	0.12017	0.1593:0.6037:0.1537:0.0833	.	222	P09601	HMOX1_HUMAN	N	222	ENSP00000216117:T222N	ENSP00000216117:T222N	T	+	2	0	HMOX1	34115885	0.001000	0.12720	0.027000	0.17364	0.172000	0.22775	-0.006000	0.12833	0.197000	0.20387	0.655000	0.94253	ACC		0.562	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			A	35785885	C	A	35785885	3	1	553	1	0	0	0	0	1	0	0	0	7245	507	18	4	679	4	HMOX1	22	35785885	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08		35785885	15518681	53	29848											
DCAF8L1	139425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	27997690	27997690	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chrX:27997690C>T	ENST00000441525.1	-	1	1876	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	588								p.E588K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCTCCTCCTCGGATGTATCT	0.502																																																1	Substitution - Missense(1)	kidney(1)											111	85	94					X																	27997690		2202	4300	6502	SO:0001583	missense	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1762G>A	X.37:g.27997690C>T	ENSP00000405222:p.Glu588Lys		B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971566	0.34754	.	.	ENSG00000226372	ENST00000441525	T	0.65364	-0.15	0.842	0.842	0.18927	.	0.374885	0.22253	N	0.062525	T	0.52158	0.1717	M	0.74881	2.28	0.21933	N	0.999461	D	0.54601	0.967	B	0.39027	0.288	T	0.48636	-0.9018	10	0.24483	T	0.36	.	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	588	A6NGE4	DC8L1_HUMAN	K	588	ENSP00000405222:E588K	ENSP00000405222:E588K	E	-	1	0	DCAF8L1	27907611	0.910000	0.30920	0.066000	0.19879	0.075000	0.17131	0.894000	0.28350	0.691000	0.31592	0.284000	0.19432	GAG		0.502	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		T	27997690	C	T	27997690	3	4	553	1	0	0	0	0	1	0	0	0	4279	893	31	1	44	1	DCAF8L1	23	27997690	Missense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08		27997690	127272870	54	29849											
BRS3	680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135570317	135570317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chrX:135570317C>A	ENST00000370648.3	+	1	272	c.44C>A	c.(43-45)tCa>tAa	p.S15*	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	15					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.S15*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACTTTAATTTCAATCACAAAT	0.388																																																2	Substitution - Nonsense(2)	lung(1)|kidney(1)											85	73	77					X																	135570317		2203	4300	6503	SO:0001587	stop_gained	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.44C>A	X.37:g.135570317C>A	ENSP00000359682:p.Ser15*			Nonsense_Mutation	SNP	ENST00000370648.3	37	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442435	0.96187	.	.	ENSG00000102239	ENST00000370648	.	.	.	6.03	3.97	0.46021	.	0.782790	0.11498	N	0.558009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0184	8.5319	0.33340	0.1294:0.7132:0.0:0.1574	.	.	.	.	X	15	.	ENSP00000359682:S15X	S	+	2	0	BRS3	135397983	0.997000	0.39634	0.975000	0.42487	0.986000	0.74619	1.419000	0.34793	1.300000	0.44818	0.600000	0.82982	TCA		0.388	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		A	135570317	C	A	135570317	4	1	553	1	0	0	0	0	0	1	0	0	1524	838	29	4	46	4	BRS3	23	135570317	Nonsense_Mutation	SNP	C	TCGA-CJ-6028-01A-11D-1669-08	107572627	135570317	19700243	55	29850											
C1orf159	54991	broad.mit.edu	37	1	1019876	1019876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:1019876delC	ENST00000379339.1	-	10	774	c.564delG	c.(562-564)ctgfs	p.L188fs	C1orf159_ENST00000437760.1_Frame_Shift_Del_p.L172fs|C1orf159_ENST00000421241.2_Frame_Shift_Del_p.L152fs|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Frame_Shift_Del_p.L152fs|C1orf159_ENST00000448924.1_Frame_Shift_Del_p.L188fs|C1orf159_ENST00000379319.1_Frame_Shift_Del_p.L152fs|C1orf159_ENST00000379320.1_Frame_Shift_Del_p.L152fs			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	188						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CGCCAGGCTGCAGGGCCGGAG	0.662																																																0													29	29	29					1																	1019876		2148	4225	6373	SO:0001589	frameshift_variant	54991			AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.564delG	1.37:g.1019876delC	ENSP00000368644:p.Leu188fs		B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Frame_Shift_Del	DEL	ENST00000379339.1	37																																																																																					0.662	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		-	1019876	C	-	1019876	7	5	554	1	0	1	0	1	0	0	0	0	2010	697	25	0	152	0	C1orf159	1	1019876	Frame_Shift_Del	DEL	C	TCGA-CJ-6030-01A-11D-1669-08		1019876	248230745	1	29851											
CHD5	26038	broad.mit.edu;hgsc.bcm.edu	37	1	6212526	6212526	+	Silent	SNP	G	G	A	rs140463225	byFrequency	TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:6212526G>A	ENST00000262450.3	-	6	915	c.816C>T	c.(814-816)gcC>gcT	p.A272A	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A272A(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTTGAGCCCGGCCGTCTTTT	0.527																																																1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	152	129	137		816	-8.8	0	1	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHD5	NM_015557.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		272/1955	6212526	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.816C>T	1.37:g.6212526G>A			A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																				0.527	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		A	6212526	G	A	6212526	2	1	554	1	0	0	0	0	0	0	0	1	3330	1103	39	1		1	CHD5	1	6212526	Silent	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	5192650	6212526	243038095	2	29852											
ZYG11B	79699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53237222	53237222	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:53237222G>C	ENST00000294353.6	+	3	872	c.727G>C	c.(727-729)Gat>Cat	p.D243H	ZYG11B_ENST00000443756.2_Missense_Mutation_p.D243H|ZYG11B_ENST00000545132.1_Missense_Mutation_p.D243H	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	243								p.D243H(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GAATCATCTTGATATCTCAGA	0.393																																																1	Substitution - Missense(1)	kidney(1)											89	82	84					1																	53237222		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.727G>C	1.37:g.53237222G>C	ENSP00000294353:p.Asp243His		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318151	0.81469	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.23147	1.92;1.92;1.92	5.26	5.26	0.73747	.	0.100977	0.64402	D	0.000001	T	0.56171	0.1967	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.60398	-0.7271	10	0.87932	D	0	.	19.1243	0.93376	0.0:0.0:1.0:0.0	.	243;243	B4DK95;Q9C0D3	.;ZY11B_HUMAN	H	243	ENSP00000400522:D243H;ENSP00000441315:D243H;ENSP00000294353:D243H	ENSP00000294353:D243H	D	+	1	0	ZYG11B	53009810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.501000	0.97979	2.741000	0.93983	0.650000	0.86243	GAT		0.393	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		C	53237222	G	C	53237222	3	2	554	1	0	0	0	0	1	0	0	0	18258	1290	45	4	737	4	ZYG11B	1	53237222	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	47024696	53237222	196013399	3	29853											
ABCA4	24	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94476403	94476403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:94476403G>T	ENST00000370225.3	-	40	5753	c.5667C>A	c.(5665-5667)taC>taA	p.Y1889*	ABCA4_ENST00000535881.1_Nonsense_Mutation_p.Y8*|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Nonsense_Mutation_p.Y159*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1889					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.Y1889*(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGGAGGAAGTACACCACCC	0.582																																																1	Substitution - Nonsense(1)	kidney(1)											209	154	172					1																	94476403		2203	4300	6503	SO:0001587	stop_gained	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5667C>A	1.37:g.94476403G>T	ENSP00000359245:p.Tyr1889*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	37	6.540510	0.97650	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	.	.	.	4.74	3.83	0.44106	.	0.508110	0.21998	N	0.066042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	10.4886	0.44737	0.158:0.0:0.842:0.0	.	.	.	.	X	681;1889;159;8	.	ENSP00000359245:Y1889X	Y	-	3	2	ABCA4	94248991	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.101000	0.31037	1.348000	0.45733	0.585000	0.79938	TAC		0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94476403	G	T	94476403	4	4	554	1	0	0	0	0	0	1	0	0	34	1024	36	4	1198	4	ABCA4	1	94476403	Nonsense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	41239181	94476403	154774218	4	29854											
ABCA4	24	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94564377	94564377	+	Missense_Mutation	SNP	G	G	T	rs372976742		TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:94564377G>T	ENST00000370225.3	-	6	827	c.741C>A	c.(739-741)aaC>aaA	p.N247K	ABCA4_ENST00000535735.1_Missense_Mutation_p.N247K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	247			N -> S (in STGD1). {ECO:0000269|PubMed:10958763}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.N247K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGAAGTCCACGTTGGCATACA	0.562																																																1	Substitution - Missense(1)	kidney(1)											95	91	92					1																	94564377		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.741C>A	1.37:g.94564377G>T	ENSP00000359245:p.Asn247Lys		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781186	0.49891	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.92545	-2.85;-3.06	5.83	-0.516	0.11950	.	1.325690	0.04944	N	0.459090	D	0.92097	0.7495	M	0.78456	2.415	0.35315	D	0.784274	P;P	0.51240	0.943;0.61	P;B	0.53549	0.729;0.131	D	0.84472	0.0600	10	0.59425	D	0.04	.	11.6836	0.51472	0.4979:0.0:0.5021:0.0	.	247;247	F5H6E5;P78363	.;ABCA4_HUMAN	K	247	ENSP00000359245:N247K;ENSP00000437682:N247K	ENSP00000359245:N247K	N	-	3	2	ABCA4	94336965	0.267000	0.24122	0.995000	0.50966	0.989000	0.77384	-0.220000	0.09215	-0.096000	0.12329	-0.244000	0.11960	AAC		0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		T	94564377	G	T	94564377	3	4	554	1	0	0	0	0	1	0	0	0	34	1136	40	4	6260	4	ABCA4	1	94564377	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	87974	94564377	154686244	5	29855											
COL11A1	1301	broad.mit.edu;hgsc.bcm.edu	37	1	103405991	103405991	+	Splice_Site	SNP	C	C	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:103405991C>A	ENST00000370096.3	-	43	3589		c.e43-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.?(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTTCTCCCTGTATTGAAT	0.458																																																2	Unknown(2)	kidney(2)											38	44	42					1																	103405991		2203	4300	6503	SO:0001630	splice_region_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3277-1G>T	1.37:g.103405991C>A			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270803	0.80469	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9157	0.92505	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103178579	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.792000	0.85828	2.467000	0.83353	0.650000	0.86243	.		0.458	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	A	103405991	C	A	103405991	5	1	554	1	0	0	0	0	0	0	1	0	3669	695	24	4	2244	4	COL11A1	1	103405991	Splice_Site	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	8841614	103405991	145844630	6	29856											
CD53	963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111437650	111437650	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:111437650G>C	ENST00000271324.5	+	5	508	c.396G>C	c.(394-396)aaG>aaC	p.K132N	CD53_ENST00000429072.2_Intron|CD53_ENST00000497404.1_3'UTR	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	132					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K132N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATAGCACCAAGGCAGCGTGGG	0.517																																																1	Substitution - Missense(1)	kidney(1)											205	170	182					1																	111437650		2203	4300	6503	SO:0001583	missense	963			BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"CD molecules", "Tetraspanins"	1686	protein-coding gene	gene with protein product		151525	"CD53 antigen"	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.396G>C	1.37:g.111437650G>C	ENSP00000271324:p.Lys132Asn		B2R905|Q5U0D6	Missense_Mutation	SNP	ENST00000271324.5	37	CCDS829.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904719	0.33628	.	.	ENSG00000143119	ENST00000271324	T	0.79653	-1.29	5.46	2.61	0.31194	Tetraspanin, EC2 domain (1);	0.901537	0.09794	N	0.755019	T	0.59459	0.2195	L	0.37507	1.11	0.23440	N	0.997675	P	0.49307	0.922	P	0.46299	0.511	T	0.48043	-0.9069	10	0.32370	T	0.25	.	7.7114	0.28679	0.2612:0.0:0.7388:0.0	.	132	P19397	CD53_HUMAN	N	132	ENSP00000271324:K132N	ENSP00000271324:K132N	K	+	3	2	CD53	111239173	0.759000	0.28416	0.038000	0.18304	0.606000	0.37113	1.792000	0.38754	0.290000	0.22444	0.643000	0.83706	AAG		0.517	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560		C	111437650	G	C	111437650	3	2	554	1	0	0	0	0	1	0	0	0	3025	991	35	4	410	4	CD53	1	111437650	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	8031659	111437650	137812971	7	29857											
C1orf103	55791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111494385	111494385	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:111494385A>G	ENST00000369763.4	-	2	1511	c.1121T>C	c.(1120-1122)gTt>gCt	p.V374A	LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.V374A(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TGATGGCAGAACATCTGTCCC	0.393																																																1	Substitution - Missense(1)	kidney(1)											151	154	153					1																	111494385		2203	4300	6503	SO:0001583	missense	0			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1121T>C	1.37:g.111494385A>G	ENSP00000358778:p.Val374Ala		Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854886	0.51376	.	.	ENSG00000121931	ENST00000369763	T	0.35789	1.29	5.7	4.56	0.56223	.	0.410282	0.23644	N	0.045993	T	0.13670	0.0331	L	0.27053	0.805	0.80722	D	1	P	0.36633	0.562	B	0.38500	0.275	T	0.04961	-1.0915	10	0.30078	T	0.28	-0.3956	10.9594	0.47376	0.8367:0.1633:0.0:0.0	.	374	Q5T3J3	LRIF1_HUMAN	A	374	ENSP00000358778:V374A	ENSP00000358778:V374A	V	-	2	0	LRIF1	111295908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.111000	0.41883	0.979000	0.38497	0.482000	0.46254	GTT		0.393	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		G	111494385	A	G	111494385	3	3	554	1	0	0	0	0	1	0	0	0	1979	43	2	3	1200	3	C1orf103	1	111494385	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	56735	111494385	137756236	8	29858											
MAGI3	260425	hgsc.bcm.edu;ucsc.edu	37	1	114193718	114193718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:114193718delA	ENST00000307546.9	+	14	2405	c.2330delA	c.(2329-2331)gatfs	p.D777fs	MAGI3_ENST00000369615.1_Frame_Shift_Del_p.D777fs|MAGI3_ENST00000369617.4_Frame_Shift_Del_p.D802fs|MAGI3_ENST00000369611.4_Frame_Shift_Del_p.D777fs	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	802	Interaction with BAI1.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTGCATTGATGGAATTCCT	0.443																																																0													148	137	141					1																	114193718		2203	4300	6503	SO:0001589	frameshift_variant	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2330delA	1.37:g.114193718delA	ENSP00000304604:p.Asp777fs		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Frame_Shift_Del	DEL	ENST00000307546.9	37	CCDS44196.1																																																																																				0.443	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		-	114193718	A	-	114193718	7	5	554	1	0	1	0	1	0	0	0	0	9194	333	12	0	2384	0	MAGI3	1	114193718	Frame_Shift_Del	DEL	A	TCGA-CJ-6030-01A-11D-1669-08	2699333	114193718	135056903	9	29859											
JTB	10899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153949705	153949705	+	Silent	SNP	A	A	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:153949705A>T	ENST00000271843.4	-	1	459	c.24T>A	c.(22-24)ccT>ccA	p.P8P	JTB_ENST00000471173.1_5'UTR|RP11-422P24.11_ENST00000608236.1_lincRNA|JTB_ENST00000368589.1_5'UTR|JTB_ENST00000356648.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	8					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)	p.P8P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGGAGGCCAGGCCTCCCGG	0.642																																																1	Substitution - coding silent(1)	kidney(1)											45	50	49					1																	153949705		2203	4300	6503	SO:0001819	synonymous_variant	10899			AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"prostate androgen-regulated gene"	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.24T>A	1.37:g.153949705A>T			O95442|Q6IB19|Q9P0Q4	Silent	SNP	ENST00000271843.4	37	CCDS1057.1																																																																																				0.642	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		T	153949705	A	T	153949705	2	4	554	1	0	0	0	0	0	0	0	1	7969	175	7	5		5	JTB	1	153949705	Silent	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	39755987	153949705	95300916	10	29860											
SPTA1	6708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158582749	158582749	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:158582749T>C	ENST00000368147.4	-	51	7172	c.6992A>G	c.(6991-6993)aAg>aGg	p.K2331R	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2331	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.K2331R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GACATAGCCCTTCCTGTGGGA	0.473																																																1	Substitution - Missense(1)	kidney(1)											60	57	58					1																	158582749		1907	4123	6030	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6992A>G	1.37:g.158582749T>C	ENSP00000357129:p.Lys2331Arg		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.761959	0.89932	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.22336	1.96;1.96	5.39	5.39	0.77823	EF-hand-like domain (1);	0.000000	0.33572	N	0.004769	T	0.20536	0.0494	L	0.51422	1.61	0.41325	D	0.987202	P	0.46656	0.882	P	0.49752	0.621	T	0.01071	-1.1461	10	0.87932	D	0	.	14.3835	0.66926	0.0:0.0:0.0:1.0	.	2331	P02549	SPTA1_HUMAN	R	2331;2328	ENSP00000357130:K2331R;ENSP00000357129:K2328R	ENSP00000357129:K2328R	K	-	2	0	SPTA1	156849373	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.156000	0.77453	2.255000	0.74692	0.533000	0.62120	AAG		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158582749	T	C	158582749	3	2	554	1	0	0	0	0	1	0	0	0	15121	1609	56	3	275	3	SPTA1	1	158582749	Missense_Mutation	SNP	T	TCGA-CJ-6030-01A-11D-1669-08	4633044	158582749	90667872	11	29861											
BRP44	25874	broad.mit.edu;ucsc.edu	37	1	167893736	167893736	+	Splice_Site	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:167893736C>T	ENST00000367846.4	-	2	347	c.149G>A	c.(148-150)tGg>tAg	p.W50*	MPC2_ENST00000271373.4_Splice_Site_p.W50*	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	50					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)	p.W50*(1)									AAGACTTACCCATTTCATAAT	0.294																																																1	Substitution - Nonsense(1)	kidney(1)											21	23	22					1																	167893736		2202	4290	6492	SO:0001630	splice_region_variant	0				CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"brain protein 44"	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.150+1G>A	1.37:g.167893736C>T			A8K261|Q3SXR6|Q6FIF3	Nonsense_Mutation	SNP	ENST00000367846.4	37	CCDS1266.1	.	.	.	.	.	.	.	.	.	.	C	37	6.029063	0.97216	.	.	ENSG00000143158	ENST00000367846;ENST00000271373;ENST00000458574	.	.	.	5.72	5.72	0.89469	.	0.106321	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.749	17.1582	0.86797	0.0:1.0:0.0:0.0	.	.	.	.	X	50	.	ENSP00000271373:W50X	W	-	2	0	BRP44	166160360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.164000	0.71885	2.865000	0.98341	0.655000	0.94253	TGG		0.294	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083652.1	NM_015415	Nonsense_Mutation	T	167893736	C	T	167893736	5	4	554	1	0	0	0	0	0	0	1	0	1520	608	21	2	250	2	BRP44	1	167893736	Splice_Site	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	9310987	167893736	81356885	12	29862											
TIPRL	261726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	168153162	168153162	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:168153162C>T	ENST00000367833.2	+	2	272	c.127C>T	c.(127-129)Cca>Tca	p.P43S	TIPRL_ENST00000367830.3_Missense_Mutation_p.P43S	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	43					DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.P43S(1)		breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					ATTACATATGCCATCTCTCCC	0.388																																																1	Substitution - Missense(1)	kidney(1)											144	135	138					1																	168153162		2203	4300	6503	SO:0001583	missense	261726			AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.127C>T	1.37:g.168153162C>T	ENSP00000356807:p.Pro43Ser		B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	ENST00000367833.2	37	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692730	0.88735	.	.	ENSG00000143155	ENST00000367833;ENST00000367830	.	.	.	5.7	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	M	0.72894	2.215	0.40501	D	0.980642	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71307	-0.4632	8	0.32370	T	0.25	-21.2126	16.2076	0.82138	0.0:0.8665:0.1335:0.0	.	43;43	O75663;O75663-2	TIPRL_HUMAN;.	S	43	.	ENSP00000356804:P43S	P	+	1	0	TIPRL	166419786	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.380000	0.79704	1.363000	0.46019	0.655000	0.94253	CCA		0.388	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902		T	168153162	C	T	168153162	3	4	554	1	0	0	0	0	1	0	0	0	15931	739	26	2	133	2	TIPRL	1	168153162	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	259426	168153162	81097459	13	29863											
SEC16B	89866	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	177906454	177906454	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:177906454A>G	ENST00000308284.6	-	19	2487	c.2398T>C	c.(2398-2400)Tca>Cca	p.S800P	SEC16B_ENST00000495165.1_5'Flank|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	800					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.S801P(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCAGGAACTGAGTAAAAAGGC	0.637																																																1	Substitution - Missense(1)	kidney(1)											48	55	53					1																	177906454		2001	4162	6163	SO:0001583	missense	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2398T>C	1.37:g.177906454A>G	ENSP00000308339:p.Ser800Pro		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.411484	0.42817	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.13657	2.57	4.59	-0.502	0.12004	.	0.646567	0.14331	N	0.326378	T	0.22244	0.0536	M	0.69823	2.125	0.09310	N	0.999999	D;D;D;D	0.71674	0.998;0.996;0.996;0.988	P;P;P;P	0.59115	0.852;0.676;0.755;0.676	T	0.13818	-1.0495	10	0.25106	T	0.35	-0.4631	4.0083	0.09611	0.4266:0.371:0.2024:0.0	.	355;801;800;497	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	P	800;484;515	ENSP00000308339:S800P	ENSP00000239472:S515P	S	-	1	0	AL359075.1	176173077	0.000000	0.05858	0.005000	0.12908	0.325000	0.28411	0.009000	0.13219	0.029000	0.15352	0.528000	0.53228	TCA		0.637	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		G	177906454	A	G	177906454	3	3	554	1	0	0	0	0	1	0	0	0	13993	304	11	3	816	3	SEC16B	1	177906454	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	9753292	177906454	71344167	14	29864											
HMCN1	83872	hgsc.bcm.edu;ucsc.edu	37	1	186023105	186023105	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:186023105delT	ENST00000271588.4	+	44	7078	c.6849delT	c.(6847-6849)aatfs	p.N2283fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.N2283fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2283	Ig-like C2-type 20.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGAATACAATCTGCAAGTTT	0.363																																																0													102	102	102					1																	186023105		2203	4300	6503	SO:0001589	frameshift_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6849delT	1.37:g.186023105delT	ENSP00000271588:p.Asn2283fs		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	ENST00000271588.4	37	CCDS30956.1																																																																																				0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		-	186023105	T	-	186023105	7	5	554	1	0	1	0	1	0	0	0	0	7222	1432	50	0	7023	0	HMCN1	1	186023105	Frame_Shift_Del	DEL	T	TCGA-CJ-6030-01A-11D-1669-08	8116651	186023105	63227516	15	29865											
TRAF5	7188	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	211542827	211542827	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:211542827G>A	ENST00000261464.5	+	9	877	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	TRAF5_ENST00000336184.2_Missense_Mutation_p.E275K|TRAF5_ENST00000367004.3_Missense_Mutation_p.E275K|TRAF5_ENST00000427925.2_Missense_Mutation_p.E169K	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	275					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E275K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		AGAACAGAAAGAAAGTAAAAT	0.353																																																1	Substitution - Missense(1)	kidney(1)											108	111	110					1																	211542827		2203	4300	6503	SO:0001583	missense	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.823G>A	1.37:g.211542827G>A	ENSP00000261464:p.Glu275Lys		B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608160	0.46527	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;D;T;T	0.84589	2.09;-1.87;2.09;2.09	4.11	4.11	0.48088	TRAF-like (1);	0.730381	0.13350	N	0.394486	T	0.82079	0.4959	L	0.56769	1.78	0.36152	D	0.847548	P;B;B	0.45531	0.86;0.064;0.108	B;B;B	0.41271	0.352;0.025;0.042	T	0.81315	-0.0988	10	0.08179	T	0.78	-17.8075	16.3463	0.83134	0.0:0.0:1.0:0.0	.	169;286;275	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	K	275;169;275;275	ENSP00000336825:E275K;ENSP00000389891:E169K;ENSP00000261464:E275K;ENSP00000355971:E275K	ENSP00000261464:E275K	E	+	1	0	TRAF5	209609450	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.949000	0.70257	1.843000	0.53566	0.467000	0.42956	GAA		0.353	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		A	211542827	G	A	211542827	3	1	554	1	0	0	0	0	1	0	0	0	16449	943	33	2	853	2	TRAF5	1	211542827	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	25519722	211542827	37707794	16	29866											
RAB3GAP2	25782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	220445640	220445640	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:220445640G>T	ENST00000358951.2	-	1	156	c.40C>A	c.(40-42)Ctc>Atc	p.L14I	RAB3GAP2_ENST00000462353.1_5'UTR	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	14					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.L14I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GCGGCCTGGAGGTCCTGGAAG	0.657																																																1	Substitution - Missense(1)	kidney(1)											37	40	39					1																	220445640		2203	4299	6502	SO:0001583	missense	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.40C>A	1.37:g.220445640G>T	ENSP00000351832:p.Leu14Ile		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212491	0.58452	.	.	ENSG00000118873	ENST00000358951	T	0.34472	1.36	4.34	4.34	0.51931	.	0.067426	0.64402	D	0.000017	T	0.19927	0.0479	N	0.11427	0.14	0.43857	D	0.996451	B;B	0.19583	0.004;0.037	B;B	0.19148	0.019;0.024	T	0.06285	-1.0835	10	0.26408	T	0.33	.	12.2102	0.54375	0.0:0.0:1.0:0.0	.	14;14	Q9H2M9-2;Q9H2M9	.;RBGPR_HUMAN	I	14	ENSP00000351832:L14I	ENSP00000351832:L14I	L	-	1	0	RAB3GAP2	218512263	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.916000	0.63362	2.224000	0.72417	0.563000	0.77884	CTC		0.657	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		T	220445640	G	T	220445640	3	4	554	1	0	0	0	0	1	0	0	0	12942	1000	35	4	4281	4	RAB3GAP2	1	220445640	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	8902813	220445640	28804981	17	29867											
KIAA1383	54627	hgsc.bcm.edu;ucsc.edu	37	1	232943660	232943660	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:232943660delT	ENST00000418460.1	+	1	3018	c.2891delT	c.(2890-2892)attfs	p.I964fs		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	822					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										AATTCTGAAATTACAAAGAGA	0.363																																																0													73	75	75					1																	232943660		1841	4092	5933	SO:0001589	frameshift_variant	54627			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2891delT	1.37:g.232943660delT	ENSP00000403208:p.Ile964fs		A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Frame_Shift_Del	DEL	ENST00000418460.1	37	CCDS44334.1																																																																																				0.363	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		-	232943660	T	-	232943660	7	5	554	1	0	1	0	1	0	0	0	0	8230	1493	52	0	2893	0	KIAA1383	1	232943660	Frame_Shift_Del	DEL	T	TCGA-CJ-6030-01A-11D-1669-08	12498020	232943660	16306961	18	29868											
CHML	1122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	241797696	241797696	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:241797696A>T	ENST00000366553.1	-	1	1536	c.1373T>A	c.(1372-1374)gTa>gAa	p.V458E	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	458					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.V458E(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGTAATGAGTACTGCCCTAGA	0.403																																																1	Substitution - Missense(1)	kidney(1)											117	115	116					1																	241797696		2203	4299	6502	SO:0001583	missense	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1373T>A	1.37:g.241797696A>T	ENSP00000355511:p.Val458Glu		B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.186305	0.57909	.	.	ENSG00000203668	ENST00000366553	D	0.87256	-2.23	5.08	5.08	0.68730	.	0.061990	0.64402	U	0.000005	D	0.92993	0.7770	.	.	.	0.53005	D	0.999965	D	0.89917	1.0	D	0.77557	0.99	D	0.93743	0.7052	9	0.87932	D	0	-9.1022	13.1474	0.59470	1.0:0.0:0.0:0.0	.	458	P26374	RAE2_HUMAN	E	458	ENSP00000355511:V458E	ENSP00000355511:V458E	V	-	2	0	CHML	239864319	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	2.855000	0.48333	2.281000	0.76405	0.533000	0.62120	GTA		0.403	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		T	241797696	A	T	241797696	3	4	554	1	0	0	0	0	1	0	0	0	3353	391	14	5	601	5	CHML	1	241797696	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	8854036	241797696	7452925	19	29869											
OR1C1	26188	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247921449	247921449	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr1:247921449G>C	ENST00000408896.2	-	1	533	c.260C>G	c.(259-261)aCt>aGt	p.T87S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	87					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)	p.T87S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTTGGTGCCAGTCAAGATATT	0.463																																																1	Substitution - Missense(1)	kidney(1)											65	62	63					1																	247921449		2009	4169	6178	SO:0001583	missense	26188			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.260C>G	1.37:g.247921449G>C	ENSP00000386138:p.Thr87Ser		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.581447	0.00879	.	.	ENSG00000221888	ENST00000408896	T	0.01335	5.0	3.19	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01061	0.0035	N	0.10760	0.04	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.48007	-0.9072	9	0.36615	T	0.2	.	9.5713	0.39429	0.1097:0.0:0.8903:0.0	.	87	Q15619	OR1C1_HUMAN	S	87	ENSP00000386138:T87S	ENSP00000386138:T87S	T	-	2	0	OR1C1	245988072	0.000000	0.05858	0.013000	0.15412	0.113000	0.19764	0.071000	0.14594	1.789000	0.52484	0.580000	0.79431	ACT		0.463	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			C	247921449	G	C	247921449	3	2	554	1	0	0	0	0	1	0	0	0	10954	1029	36	4	686	4	OR1C1	1	247921449	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	6123753	247921449	1329172	20	29870											
UGGT1	56886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128867214	128867214	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr2:128867214G>A	ENST00000259253.6	+	5	462	c.415G>A	c.(415-417)Gct>Act	p.A139T	UGGT1_ENST00000375990.3_Missense_Mutation_p.A115T	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	139					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.A139T(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACAGATAGCAGCTGATGAACC	0.363																																																1	Substitution - Missense(1)	kidney(1)											166	154	158					2																	128867214		2203	4300	6503	SO:0001583	missense	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.415G>A	2.37:g.128867214G>A	ENSP00000259253:p.Ala139Thr		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631626	0.46944	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08634	3.07;3.07	5.5	5.5	0.81552	.	0.109676	0.64402	D	0.000006	T	0.10465	0.0256	L	0.48877	1.53	0.32518	N	0.536684	B;B	0.12630	0.004;0.006	B;B	0.13407	0.009;0.003	T	0.10823	-1.0613	10	0.15066	T	0.55	.	19.3486	0.94374	0.0:0.0:1.0:0.0	.	115;139	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	T	115;139	ENSP00000365158:A115T;ENSP00000259253:A139T	ENSP00000259253:A139T	A	+	1	0	UGGT1	128583684	1.000000	0.71417	0.991000	0.47740	0.912000	0.54170	2.913000	0.48790	2.736000	0.93811	0.591000	0.81541	GCT		0.363	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		A	128867214	G	A	128867214	3	1	554	1	0	0	0	0	1	0	0	0	16946	971	34	2	433	2	UGGT1	2	128867214	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08		128867214	114332159	21	29871	214	2									
UGGT1	56886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128867224	128867224	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr2:128867224C>A	ENST00000259253.6	+	5	472	c.425C>A	c.(424-426)cCt>cAt	p.P142H	UGGT1_ENST00000375990.3_Missense_Mutation_p.P118H	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	142					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.P142H(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCTGATGAACCTCCACCAGAA	0.373																																																1	Substitution - Missense(1)	kidney(1)											174	161	165					2																	128867224		2203	4300	6503	SO:0001583	missense	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.425C>A	2.37:g.128867224C>A	ENSP00000259253:p.Pro142His		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250492	0.59212	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08720	3.06;3.06	5.5	2.55	0.30701	.	0.164390	0.56097	D	0.000039	T	0.16896	0.0406	M	0.78049	2.395	0.58432	D	0.99999	P;P	0.41265	0.742;0.744	P;B	0.49276	0.605;0.336	T	0.00628	-1.1637	10	0.45353	T	0.12	.	7.3869	0.26888	0.0:0.7023:0.1374:0.1604	.	118;142	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	H	118;142	ENSP00000365158:P118H;ENSP00000259253:P142H	ENSP00000259253:P142H	P	+	2	0	UGGT1	128583694	1.000000	0.71417	0.998000	0.56505	0.809000	0.45718	2.858000	0.48356	0.298000	0.22638	0.591000	0.81541	CCT		0.373	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		A	128867224	C	A	128867224	3	1	554	1	0	0	0	0	1	0	0	0	16946	681	24	4	443	4	UGGT1	2	128867224	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	10	128867224	114332149	22	29872	214	2									
GALNT13	114805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	155099221	155099221	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr2:155099221G>T	ENST00000392825.3	+	6	1056	c.489G>T	c.(487-489)aaG>aaT	p.K163N	GALNT13_ENST00000409237.1_Missense_Mutation_p.K163N	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	163	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.K163N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATTTTCTCAAGTTGACATTAG	0.333																																																1	Substitution - Missense(1)	kidney(1)											24	27	26					2																	155099221		2201	4299	6500	SO:0001583	missense	114805			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.489G>T	2.37:g.155099221G>T	ENSP00000376570:p.Lys163Asn		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677415	0.68042	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.61392	0.11;0.11	5.98	4.19	0.49359	Glycosyl transferase, family 2 (1);	0.044595	0.85682	D	0.000000	T	0.75095	0.3803	M	0.88450	2.955	0.58432	D	0.999998	D;D	0.57571	0.98;0.977	P;P	0.62740	0.906;0.756	T	0.76868	-0.2800	10	0.62326	D	0.03	.	9.1463	0.36935	0.2192:0.0:0.7808:0.0	.	163;163	Q08ER7;Q8IUC8	.;GLT13_HUMAN	N	163	ENSP00000376570:K163N;ENSP00000387239:K163N	ENSP00000376570:K163N	K	+	3	2	GALNT13	154807467	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.533000	0.53561	0.877000	0.35895	0.585000	0.79938	AAG		0.333	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		T	155099221	G	T	155099221	3	4	554	1	0	0	0	0	1	0	0	0	6213	1020	36	4	503	4	GALNT13	2	155099221	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	26231997	155099221	88100152	23	29873											
COBLL1	22837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	165557144	165557144	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr2:165557144C>T	ENST00000392717.2	-	11	1583	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	COBLL1_ENST00000194871.6_Missense_Mutation_p.D555N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D489N|COBLL1_ENST00000409184.3_Missense_Mutation_p.D488N|COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000375458.2_Missense_Mutation_p.D450N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	527						extracellular vesicular exosome (GO:0070062)		p.D489N(1)		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						TTTATTATATCAGTAGATACA	0.363																																																1	Substitution - Missense(1)	kidney(1)											132	134	133					2																	165557144		2203	4300	6503	SO:0001583	missense	22837			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.1579G>A	2.37:g.165557144C>T	ENSP00000376478:p.Asp527Asn		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	C	14.03	2.415095	0.42817	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.42	3.6	0.41247	.	0.505718	0.20506	N	0.090988	T	0.40645	0.1125	L	0.32530	0.975	0.21147	N	0.999777	D;D;D	0.63046	0.983;0.992;0.98	P;P;P	0.58210	0.722;0.835;0.811	T	0.13415	-1.0510	9	0.66056	D	0.02	-11.8402	9.6259	0.39750	0.0:0.7762:0.0:0.2238	.	527;555;488	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	450;489;488;527;555	.	ENSP00000194871:D555N	D	-	1	0	COBLL1	165265390	0.960000	0.32886	0.963000	0.40424	0.061000	0.15899	0.857000	0.27831	1.430000	0.47334	0.655000	0.94253	GAT		0.363	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		T	165557144	C	T	165557144	3	4	554	1	0	0	0	0	1	0	0	0	3656	826	29	2	2055	2	COBLL1	2	165557144	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	10457923	165557144	77642229	24	29874											
HSPD1	3329	hgsc.bcm.edu	37	2	198363397	198363397	+	Splice_Site	SNP	A	A	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr2:198363397A>C	ENST00000388968.3	-	2	442		c.e2+1		HSPE1_ENST00000409468.1_5'Flank|HSPD1_ENST00000544407.1_Splice_Site|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000345042.2_Splice_Site|HSPE1_ENST00000233893.5_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)						'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			AAATACTGGTACCTTTGGCCC	0.373																																																0													46	49	48					2																	198363397		2203	4300	6503	SO:0001630	splice_region_variant	3329			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.174+1T>G	2.37:g.198363397A>C			B2R5M6|B7Z712|Q38L19|Q9UCR6	Splice_Site	SNP	ENST00000388968.3	37	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.782357	0.70222	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480;ENST00000428204;ENST00000439605	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7186	0.77688	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPD1	198071642	1.000000	0.71417	0.994000	0.49952	0.655000	0.38815	9.216000	0.95154	2.174000	0.68829	0.533000	0.62120	.		0.373	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156	Intron	C	198363397	A	C	198363397	5	2	554	1	0	0	0	0	0	0	1	0	7430	405	14	5	1589	5	HSPD1	2	198363397	Splice_Site	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	32806253	198363397	44835976	25	29875											
STK11IP	114790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220465991	220465991	+	Silent	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr2:220465991C>T	ENST00000456909.1	+	3	186	c.96C>T	c.(94-96)agC>agT	p.S32S	STK11IP_ENST00000295641.10_Silent_p.S43S|STK11IP_ENST00000459692.1_3'UTR			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	43					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.S40S(1)|p.S32S(1)|p.S43S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACCCTGAGCCTGCTGACTC	0.552																																																3	Substitution - coding silent(3)	kidney(3)											62	65	64					2																	220465991		2183	4281	6464	SO:0001819	synonymous_variant	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.96C>T	2.37:g.220465991C>T			Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37																																																																																					0.552	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		T	220465991	C	T	220465991	2	4	554	1	0	0	0	0	0	0	0	1	15293	738	26	2		2	STK11IP	2	220465991	Silent	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	22102594	220465991	22733382	26	29876											
TRIP12	9320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	230642131	230642131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr2:230642131G>T	ENST00000283943.5	-	36	5382	c.5204C>A	c.(5203-5205)tCa>tAa	p.S1735*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.S1783*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.S1465*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1735					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.S1735*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAAATCGTGTGATGTCAGTGA	0.403																																																1	Substitution - Nonsense(1)	kidney(1)											220	206	211					2																	230642131		2203	4300	6503	SO:0001587	stop_gained	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5204C>A	2.37:g.230642131G>T	ENSP00000283943:p.Ser1735*		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	47	13.549606	0.99749	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044;ENST00000418123	.	.	.	5.92	5.92	0.95590	.	0.060697	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	20.3151	0.98650	0.0:0.0:1.0:0.0	.	.	.	.	X	1735;1465;1783;33	.	ENSP00000283943:S1735X	S	-	2	0	TRIP12	230350375	1.000000	0.71417	0.473000	0.27253	0.990000	0.78478	9.167000	0.94773	2.809000	0.96659	0.467000	0.42956	TCA		0.403	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		T	230642131	G	T	230642131	4	4	554	1	0	0	0	0	0	1	0	0	16561	1294	45	4	798	4	TRIP12	2	230642131	Nonsense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	10176140	230642131	12557242	27	29877											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10188215	10188215	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr3:10188215A>G	ENST00000256474.2	+	2	1198	c.358A>G	c.(358-360)Aga>Gga	p.R120G	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	120	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R120G(1)|p.R120fs*38(1)|p.?(1)|p.R120*(1)|p.L118_G123>P(1)|p.W117fs*1(1)|p.F119fs*11(1)|p.D121fs*10(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTGGCTCTTCAGAGATGCAGG	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Deletion - Frameshift(4)|Substitution - Nonsense(1)|Unknown(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(8)	GRCh37	CI951985|CM014753	VHL	I|M							181	168	172					3																	10188215		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.358A>G	3.37:g.10188215A>G	ENSP00000256474:p.Arg120Gly		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.761649	0.49468	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99830	-7.01	5.07	3.95	0.45737	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97999	1.0359	10	0.54805	T	0.06	-7.4406	9.9526	0.41647	0.5806:0.4194:0.0:0.0	.	120	P40337	VHL_HUMAN	G	120;38	ENSP00000256474:R120G	ENSP00000256474:R120G	R	+	1	2	VHL	10163215	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	1.082000	0.30803	0.927000	0.37143	0.460000	0.39030	AGA		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10188215	A	G	10188215	3	3	554	1	0	0	0	0	1	0	0	0	17167	180	7	3	364	3	VHL	3	10188215	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08		10188215	187834215	28	29878											
XCR1	2829	broad.mit.edu;hgsc.bcm.edu	37	3	46063001	46063001	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr3:46063001C>T	ENST00000309285.3	-	2	795	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	XCR1_ENST00000542109.1_Missense_Mutation_p.V147M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	147					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.V147M(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTCACCAGCACCCGGCAGCGG	0.592																																																1	Substitution - Missense(1)	kidney(1)											43	43	43					3																	46063001		2203	4300	6503	SO:0001583	missense	2829				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.439G>A	3.37:g.46063001C>T	ENSP00000310405:p.Val147Met			Missense_Mutation	SNP	ENST00000309285.3	37	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	C	7.359	0.624538	0.14193	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.38887	1.11;1.11	5.57	0.394	0.16299	GPCR, rhodopsin-like superfamily (1);	1.029920	0.07648	N	0.931498	T	0.33673	0.0871	L	0.46885	1.475	0.09310	N	1	P	0.41673	0.759	B	0.39971	0.315	T	0.29181	-1.0020	10	0.72032	D	0.01	.	2.8522	0.05561	0.1089:0.4649:0.1064:0.3198	.	147	P46094	XCR1_HUMAN	M	147	ENSP00000310405:V147M;ENSP00000438119:V147M	ENSP00000310405:V147M	V	-	1	0	XCR1	46038005	0.000000	0.05858	0.117000	0.21633	0.135000	0.20990	-0.502000	0.06390	0.043000	0.15746	0.650000	0.86243	GTG		0.592	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			T	46063001	C	T	46063001	3	4	554	1	0	0	0	0	1	0	0	0	17430	507	18	2	566	2	XCR1	3	46063001	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	35874786	46063001	151959429	29	29879											
C3orf45	132228	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	50324295	50324295	+	Splice_Site	SNP	T	T	A	rs368039673		TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr3:50324295T>A	ENST00000316436.3	+	3	448		c.e3+2			NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2							integral component of membrane (GO:0016021)		p.?(1)									ACCTGAGCGGTATGGACGCAT	0.597																																																1	Unknown(1)	kidney(1)											58	55	56					3																	50324295		2203	4300	6503	SO:0001630	splice_region_variant	132228			AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 45"	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.361+2T>A	3.37:g.50324295T>A				Splice_Site	SNP	ENST00000316436.3	37	CCDS2814.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239558	0.58995	.	.	ENSG00000179564	ENST00000316436	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5299	0.50601	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf45	50299299	0.991000	0.36638	0.965000	0.40720	0.659000	0.38960	1.313000	0.33585	1.974000	0.57490	0.459000	0.35465	.		0.597	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215	Intron	A	50324295	T	A	50324295	5	1	554	1	0	0	0	0	0	0	1	0	2233	1652	57	5	373	5	C3orf45	3	50324295	Splice_Site	SNP	T	TCGA-CJ-6030-01A-11D-1669-08	4261294	50324295	147698135	30	29880											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52696252	52696253	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr3:52696252_52696253insC	ENST00000296302.7	-	4	425_426	c.424_425insG	c.(424-426)gatfs	p.D142fs	PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.D142fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.D142fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.D142fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.D142fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.D142fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.D142fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.D142fs			Q86U86	PB1_HUMAN	polybromo 1	142					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAGGTACAAATCCCAGAGTTTG	0.381			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.425dupG	3.37:g.52696255_52696255dupC	ENSP00000296302:p.Asp142fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																					0.381	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52696253	-	C	52696252	7	5	554	1	0	1	1	0	0	0	0	0	11493	1435	50	0	4583	0	PBRM1	3	52696252	Frame_Shift_Ins	INS	-	TCGA-CJ-6030-01A-11D-1669-08	2371957	52696252	145326178	31	29881											
C3orf37	56941	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128998744	128998744	+	Silent	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr3:128998744C>T	ENST00000383463.4	+	2	258	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	HMCES_ENST00000417226.2_Silent_p.L57L|HMCES_ENST00000502878.2_Silent_p.L57L|HMCES_ENST00000389735.3_Silent_p.L57L	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	57							DNA binding (GO:0003677)|peptidase activity (GO:0008233)	p.L57L(1)									TCTGTCTCGACTGCACTTTGA	0.567																																																1	Substitution - coding silent(1)	kidney(1)											99	94	95					3																	128998744		2203	4300	6503	SO:0001819	synonymous_variant	56941			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"SOS response associated peptidase domain containing 1"		"chromosome 3 open reading frame 37"	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.169C>T	3.37:g.128998744C>T			A6NJR9|Q96G34|Q9NRP3	Silent	SNP	ENST00000383463.4	37	CCDS33852.1																																																																																				0.567	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		T	128998744	C	T	128998744	2	4	554	1	0	0	0	0	0	0	0	1	2229	564	20	2		2	C3orf37	3	128998744	Silent	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	76302492	128998744	69023686	32	29882											
COL6A6	131873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130285927	130285927	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr3:130285927A>G	ENST00000358511.6	+	4	1695	c.1664A>G	c.(1663-1665)gAg>gGg	p.E555G	COL6A6_ENST00000453409.2_Missense_Mutation_p.E555G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	555	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E555G(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGCATCTTGGAGCCTGCAAAC	0.473																																																1	Substitution - Missense(1)	kidney(1)											121	124	123					3																	130285927		1996	4180	6176	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1664A>G	3.37:g.130285927A>G	ENSP00000351310:p.Glu555Gly		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273508	0.23221	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83591	-1.74;-1.74	5.24	2.88	0.33553	von Willebrand factor, type A (3);	0.301496	0.28476	N	0.015205	T	0.75576	0.3868	L	0.52011	1.625	0.22489	N	0.999052	B	0.13145	0.007	B	0.12156	0.007	T	0.62110	-0.6923	10	0.35671	T	0.21	.	8.2135	0.31496	0.8272:0.0:0.1728:0.0	.	555	A6NMZ7	CO6A6_HUMAN	G	555	ENSP00000351310:E555G;ENSP00000399236:E555G	ENSP00000351310:E555G	E	+	2	0	COL6A6	131768617	0.535000	0.26370	0.656000	0.29637	0.628000	0.37860	0.605000	0.24179	0.332000	0.23536	0.459000	0.35465	GAG		0.473	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		G	130285927	A	G	130285927	3	3	554	1	0	0	0	0	1	0	0	0	3705	304	11	3	1678	3	COL6A6	3	130285927	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	1287183	130285927	67736503	33	29883											
DNAJC13	23317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132193851	132193851	+	Silent	SNP	A	A	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr3:132193851A>G	ENST00000260818.6	+	22	2615	c.2367A>G	c.(2365-2367)gaA>gaG	p.E789E		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	789					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.E172E(1)|p.E789E(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATACTCTTGAATCTGAAATGA	0.363																																																2	Substitution - coding silent(2)	kidney(2)											112	118	116					3																	132193851		2203	4300	6503	SO:0001819	synonymous_variant	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2367A>G	3.37:g.132193851A>G			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	CCDS33857.1																																																																																				0.363	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		G	132193851	A	G	132193851	2	3	554	1	0	0	0	0	0	0	0	1	4634	98	4	3		3	DNAJC13	3	132193851	Silent	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	1907924	132193851	65828579	34	29884											
TM4SF19	116211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196051159	196051159	+	Silent	SNP	G	G	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr3:196051159G>A	ENST00000273695.3	-	4	557	c.432C>T	c.(430-432)ttC>ttT	p.F144F	TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000454715.1_Silent_p.F118F|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000442633.1_Silent_p.F144F|TM4SF19_ENST00000446879.1_Silent_p.F144F	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	144						integral component of membrane (GO:0016021)		p.F144F(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GCAGGTCTTTGAATGGGTAAC	0.433																																																1	Substitution - coding silent(1)	kidney(1)											95	88	90					3																	196051159		2203	4300	6503	SO:0001819	synonymous_variant	116211			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.432C>T	3.37:g.196051159G>A			B2RV20|E9PH22|Q336K7	Silent	SNP	ENST00000273695.3	37	CCDS3316.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496263	0.44352	.	.	ENSG00000145107	ENST00000440822	.	.	.	5.01	1.67	0.24075	.	.	.	.	.	T	0.54431	0.1858	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45512	-0.9256	4	.	.	.	-25.1849	6.9396	0.24486	0.3633:0.0:0.6367:0.0	.	.	.	.	L	12	.	.	S	-	2	0	TM4SF19	197535556	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.518000	0.35877	0.490000	0.27771	0.563000	0.77884	TCA		0.433	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461		A	196051159	G	A	196051159	2	1	554	1	0	0	0	0	0	0	0	1	15973	1281	45	2		2	TM4SF19	3	196051159	Silent	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	63857308	196051159	1971271	35	29885											
PDCL2	132954	broad.mit.edu;hgsc.bcm.edu	37	4	56435977	56435977	+	Silent	SNP	T	T	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr4:56435977T>C	ENST00000295645.4	-	4	372	c.270A>G	c.(268-270)ggA>ggG	p.G90G		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	90	Thioredoxin fold. {ECO:0000250}.							p.G90G(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			CTCTTAATTCTCCAAATTTTT	0.289																																																1	Substitution - coding silent(1)	kidney(1)											69	57	61					4																	56435977		1785	4028	5813	SO:0001819	synonymous_variant	132954			BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.270A>G	4.37:g.56435977T>C			A8MWA2|B9ZVQ9	Silent	SNP	ENST00000295645.4	37	CCDS47059.1																																																																																				0.289	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		C	56435977	T	C	56435977	2	2	554	1	0	0	0	0	0	0	0	1	11629	1538	54	3		3	PDCL2	4	56435977	Silent	SNP	T	TCGA-CJ-6030-01A-11D-1669-08		56435977	134718299	36	29886											
TECRL	253017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	65274994	65274995	+	Missense_Mutation	DNP	GT	GT	CA			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr4:65274994_65274995GT>CA	ENST00000381210.3	-	1	185_186	c.75_76AC>TG	c.(73-78)atACtg>atTGtg	p.L26V	TECRL_ENST00000507440.1_Missense_Mutation_p.L26V	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	26					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.L26V(2)|p.I25I(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCATCCTTCAGTATGAACCGTG	0.441																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	253017			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.75_76delinsCA	4.37:g.65274994_65274995delinsCA	ENSP00000370607:p.Leu26Val			Missense_Mutation|Silent	SNP	ENST00000381210.3	37	CCDS33990.1																																																																																				0.441	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		CA	65274995	GT	CA	65274994	3	2	554	1	0	0	0	0	1	0	0	0	15751	1020	36	4	1063	4	TECRL	4	65274994	Missense_Mutation	DNP	GT	TCGA-CJ-6030-01A-11D-1669-08	8839017	65274994	125879282	37	29887											
SULT1E1	6783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	70707775	70707775	+	Silent	SNP	T	T	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr4:70707775T>C	ENST00000226444.3	-	8	934	c.822A>G	c.(820-822)aaA>aaG	p.K274K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	274					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)	p.K274K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	GTTTATCAAATTTTTCATTCA	0.308																																																1	Substitution - coding silent(1)	kidney(1)											112	114	113					4																	70707775		2203	4294	6497	SO:0001819	synonymous_variant	6783			BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"Sulfotransferases, cytosolic"	11377	protein-coding gene	gene with protein product		600043	"sulfotransferase, estrogen-preferring"	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.822A>G	4.37:g.70707775T>C			Q8N6X5	Silent	SNP	ENST00000226444.3	37	CCDS3531.1																																																																																				0.308	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		C	70707775	T	C	70707775	2	2	554	1	0	0	0	0	0	0	0	1	15385	1490	52	3		3	SULT1E1	4	70707775	Silent	SNP	T	TCGA-CJ-6030-01A-11D-1669-08	5432781	70707775	120446501	38	29888											
SHROOM3	57619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77661527	77661527	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr4:77661527C>G	ENST00000296043.6	+	5	3154	c.2201C>G	c.(2200-2202)tCt>tGt	p.S734C		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	734					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.S733C(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCTCGGCTTCTTTCAACAGC	0.701																																																1	Substitution - Missense(1)	kidney(1)											24	29	27					4																	77661527		2180	4263	6443	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2201C>G	4.37:g.77661527C>G	ENSP00000296043:p.Ser734Cys		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	16.94	3.261381	0.59431	.	.	ENSG00000138771	ENST00000296043	T	0.36520	1.25	5.65	3.88	0.44766	.	0.666605	0.14254	N	0.331223	T	0.34106	0.0886	M	0.65975	2.015	0.09310	N	1	P;B;P	0.35033	0.481;0.159;0.481	B;B;B	0.28232	0.087;0.039;0.087	T	0.24333	-1.0163	10	0.72032	D	0.01	-20.1968	9.2699	0.37664	0.0:0.6503:0.2744:0.0754	.	558;734;512	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	C	734	ENSP00000296043:S734C	ENSP00000296043:S734C	S	+	2	0	SHROOM3	77880551	0.003000	0.15002	0.007000	0.13788	0.004000	0.04260	1.371000	0.34250	0.688000	0.31529	0.558000	0.71614	TCT		0.701	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		G	77661527	C	G	77661527	3	3	554	1	0	0	0	0	1	0	0	0	14301	913	32	4	2219	4	SHROOM3	4	77661527	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	6953752	77661527	113492749	39	29889											
C4orf37	285555	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	98761954	98761954	+	Missense_Mutation	SNP	G	G	A	rs200220026		TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr4:98761954G>A	ENST00000295268.3	-	9	1263	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	392								p.R392W(1)									TCTAGGCACCGAGGAGTTGCA	0.363																																																1	Substitution - Missense(1)	kidney(1)						G	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	108	114	112		1174	2.3	0.5	4		112	0,8598		0,0,4299	yes	missense	C4orf37	NM_174952.2	101	0,5,6497	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	392/460	98761954	5,12999	2203	4299	6502	SO:0001583	missense	0			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1174C>T	4.37:g.98761954G>A	ENSP00000295268:p.Arg392Trp			Missense_Mutation	SNP	ENST00000295268.3	37	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815825	0.50527	0.001135	0.0	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.55413	0.52;2.39	5.47	2.34	0.29019	.	0.108006	0.39146	N	0.001451	T	0.67373	0.2886	M	0.71581	2.175	0.25020	N	0.991347	D	0.89917	1.0	D	0.73380	0.98	T	0.59516	-0.7440	10	0.87932	D	0	-9.9652	10.7395	0.46145	0.0:0.107:0.5864:0.3066	.	392	Q8N412	CD037_HUMAN	W	106;392	ENSP00000428346:R106W;ENSP00000295268:R392W	ENSP00000295268:R392W	R	-	1	2	C4orf37	98980977	0.999000	0.42202	0.499000	0.27577	0.791000	0.44710	0.938000	0.28965	0.623000	0.30267	0.585000	0.79938	CGG		0.363	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		A	98761954	G	A	98761954	3	1	554	1	0	0	0	0	1	0	0	0	2269	1057	37	1	217	1	C4orf37	4	98761954	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	21100427	98761954	92392322	40	29890											
SKP2	6502	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	36177323	36177323	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr5:36177323A>T	ENST00000274255.6	+	9	1186	c.990A>T	c.(988-990)gaA>gaT	p.E330D	SKP2_ENST00000508514.1_Missense_Mutation_p.E123D|SKP2_ENST00000546211.1_Missense_Mutation_p.E116D|SKP2_ENST00000274254.5_Missense_Mutation_p.E330D	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)	p.E330D(2)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTTCAGGAATTTTTCCAGC	0.343																																																2	Substitution - Missense(2)	kidney(2)											138	128	132					5																	36177323		2203	4300	6503	SO:0001583	missense	6502			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.990A>T	5.37:g.36177323A>T	ENSP00000274255:p.Glu330Asp		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.252944	0.22965	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000508514;ENST00000546211	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.38	4.38	0.52667	.	0.208179	0.39909	N	0.001229	T	0.37128	0.0992	M	0.73217	2.22	0.30194	N	0.799265	B;P;B	0.34815	0.043;0.47;0.043	B;B;B	0.27887	0.005;0.084;0.012	T	0.32981	-0.9886	10	0.18710	T	0.47	-7.5621	5.0772	0.14638	0.5702:0.147:0.0:0.2829	.	116;330;330	B4DJT4;Q13309-2;Q13309	.;.;SKP2_HUMAN	D	330;330;296;123;116	ENSP00000274254:E330D;ENSP00000274255:E330D;ENSP00000421941:E123D;ENSP00000443492:E116D	ENSP00000274254:E330D	E	+	3	2	SKP2	36213080	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.243000	0.32767	1.956000	0.56807	0.455000	0.32223	GAA		0.343	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		T	36177323	A	T	36177323	3	4	554	1	0	0	0	0	1	0	0	0	14368	98	4	5	1024	5	SKP2	5	36177323	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08		36177323	144737937	41	29891											
ISL1	3670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	50685530	50685530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr5:50685530C>T	ENST00000230658.7	+	4	1114	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	ISL1_ENST00000511384.1_Nonsense_Mutation_p.Q177*|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	177					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.Q177*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CGTCCACAAGCAGCCGGAGAA	0.701																																																1	Substitution - Nonsense(1)	kidney(1)											33	40	37					5																	50685530		2203	4300	6503	SO:0001587	stop_gained	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.529C>T	5.37:g.50685530C>T	ENSP00000230658:p.Gln177*		P20663|P47894	Nonsense_Mutation	SNP	ENST00000230658.7	37	CCDS43314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.558096|5.558096	0.96514|0.96514	.|.	.|.	ENSG00000016082|ENSG00000016082	ENST00000505475|ENST00000230658;ENST00000503187;ENST00000511384	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.68348|.	0.2991|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.58014|.	-0.7711|.	4|.	0.87932|0.16420	D|T	0|0.52	.|.	20.547|20.547	0.99278|0.99278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	123|177	.|.	ENSP00000421737:A123V|ENSP00000230658:Q177X	A|Q	+|+	2|1	0|0	ISL1|ISL1	50721287|50721287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	7.395000|7.395000	0.79876|0.79876	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.701	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		T	50685530	C	T	50685530	4	4	554	1	0	0	0	0	0	1	0	0	7858	711	25	2	543	2	ISL1	5	50685530	Nonsense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	14508207	50685530	130229730	42	29892											
BDP1	55814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	70785431	70785431	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr5:70785431G>A	ENST00000358731.4	+	10	1677	c.1414G>A	c.(1414-1416)Gct>Act	p.A472T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	472					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A472T(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GCAAGATGGAGCTAATGAACT	0.388																																																1	Substitution - Missense(1)	kidney(1)											71	69	70					5																	70785431		1889	4100	5989	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1414G>A	5.37:g.70785431G>A	ENSP00000351575:p.Ala472Thr		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.529965	0.00951	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.57595	0.39	5.26	-3.56	0.04626	.	1.967670	0.01990	N	0.045474	T	0.33990	0.0882	N	0.19112	0.55	0.09310	N	0.999998	B;B;B	0.12630	0.001;0.006;0.003	B;B;B	0.12837	0.002;0.006;0.008	T	0.42865	-0.9426	10	0.02654	T	1	.	11.6316	0.51178	0.7786:0.0:0.2214:0.0	.	472;472;472	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	T	472;472;52;472	ENSP00000351575:A472T	ENSP00000351575:A472T	A	+	1	0	BDP1	70821187	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.581000	0.05820	-0.589000	0.05874	0.462000	0.41574	GCT		0.388	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		A	70785431	G	A	70785431	3	1	554	1	0	0	0	0	1	0	0	0	1395	971	34	2	1452	2	BDP1	5	70785431	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	20099901	70785431	110129829	43	29893											
POLK	51426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	74865216	74865216	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr5:74865216A>G	ENST00000241436.4	+	4	479	c.307A>G	c.(307-309)Ata>Gta	p.I103V	POLK_ENST00000380481.3_Missense_Mutation_p.I13V|POLK_ENST00000515295.1_Missense_Mutation_p.I103V|POLK_ENST00000352007.5_Missense_Mutation_p.I103V|POLK_ENST00000504026.1_Missense_Mutation_p.I103V|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.I103V	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	103	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.I103V(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GAGCAATACCATAGTGCACAT	0.338								DNA polymerases (catalytic subunits)																																								2	Substitution - Missense(2)	kidney(2)											97	91	93					5																	74865216		2203	4300	6503	SO:0001583	missense	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.307A>G	5.37:g.74865216A>G	ENSP00000241436:p.Ile103Val		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333753	0.81801	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000514296;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.61	5.61	0.85477	DNA-repair protein, UmuC-like, N-terminal (1);	0.042224	0.85682	D	0.000000	D	0.85957	0.5818	L	0.58510	1.815	0.58432	D	0.999999	D;P;D;D	0.71674	0.981;0.609;0.996;0.998	D;B;D;D	0.87578	0.99;0.254;0.998;0.995	D	0.86237	0.1641	10	0.51188	T	0.08	-13.957	16.0973	0.81135	1.0:0.0:0.0:0.0	.	103;103;103;103	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	V	103;103;103;103;103;103;13	ENSP00000241436:I103V;ENSP00000342256:I103V;ENSP00000425208:I103V;ENSP00000424174:I103V;ENSP00000425075:I103V;ENSP00000426853:I103V;ENSP00000369848:I13V	ENSP00000241436:I103V	I	+	1	0	POLK	74900972	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.287000	0.95975	2.263000	0.75096	0.377000	0.23210	ATA		0.338	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		G	74865216	A	G	74865216	3	3	554	1	0	0	0	0	1	0	0	0	12206	217	8	3	317	3	POLK	5	74865216	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	4079785	74865216	106050044	44	29894											
GPR98	84059	hgsc.bcm.edu;ucsc.edu	37	5	89969937	89969938	+	Frame_Shift_Ins	INS	-	-	T	rs370077523		TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr5:89969937_89969938insT	ENST00000405460.2	+	23	5092_5093	c.4996_4997insT	c.(4996-4998)gttfs	p.V1666fs	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1666					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTGACATTGGTTTCTGCAATT	0.386																																																0																																										SO:0001589	frameshift_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4999dupT	5.37:g.89969940_89969940dupT	ENSP00000384582:p.Val1666fs		O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	CCDS47246.1																																																																																				0.386	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		T	89969938	-	T	89969937	7	5	554	1	0	1	1	0	0	0	0	0	6723	1261	44	0	5086	0	GPR98	5	89969937	Frame_Shift_Ins	INS	-	TCGA-CJ-6030-01A-11D-1669-08	15104721	89969937	90945323	45	29895											
PPIP5K2	23262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	102513641	102513641	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr5:102513641A>C	ENST00000358359.3	+	23	3223	c.2714A>C	c.(2713-2715)aAt>aCt	p.N905T	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.N905T|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.N905T|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	905					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.N905T(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAAGACAAAAATTTGCCATCT	0.393																																																1	Substitution - Missense(1)	kidney(1)											76	75	75					5																	102513641		2202	4298	6500	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2714A>C	5.37:g.102513641A>C	ENSP00000351126:p.Asn905Thr		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	A	16.13	3.034520	0.54896	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.23950	2.48;2.47;2.48;1.88	6.07	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	M	0.73217	2.22	0.58432	D	0.999996	B;B;B	0.24823	0.052;0.032;0.112	B;B;B	0.26770	0.056;0.073;0.049	T	0.08659	-1.0711	10	0.72032	D	0.01	.	11.9491	0.52944	0.9329:0.0:0.0671:0.0	.	920;905;905	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	T	905;905;920;905;179	ENSP00000313070:N905T;ENSP00000351126:N905T;ENSP00000416016:N905T;ENSP00000424948:N179T	ENSP00000313070:N905T	N	+	2	0	PPIP5K2	102541540	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.301000	0.72782	1.128000	0.42052	0.533000	0.62120	AAT		0.393	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		C	102513641	A	C	102513641	3	2	554	1	0	0	0	0	1	0	0	0	12338	101	4	5	2800	5	PPIP5K2	5	102513641	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	12543704	102513641	78401619	46	29896											
LMNB1	4001	broad.mit.edu;ucsc.edu	37	5	126158526	126158526	+	Silent	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr5:126158526C>T	ENST00000261366.5	+	8	1801	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	480	LTD.|Tail.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)	p.V480V(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		ACACATCAGTCAGTTATAAAT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											89	85	87					5																	126158526		2203	4300	6503	SO:0001819	synonymous_variant	4001			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"Intermediate filaments type V, lamins"	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1440C>T	5.37:g.126158526C>T			B2R6J6|Q3SYN7|Q96EI6	Silent	SNP	ENST00000261366.5	37	CCDS4140.1																																																																																				0.388	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		T	126158526	C	T	126158526	2	4	554	1	0	0	0	0	0	0	0	1	8851	813	29	2		2	LMNB1	5	126158526	Silent	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	23644885	126158526	54756734	47	29897											
NSD1	64324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176720945	176720945	+	Silent	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr5:176720945C>T	ENST00000439151.2	+	23	6621	c.6576C>T	c.(6574-6576)ttC>ttT	p.F2192F	NSD1_ENST00000347982.4_Silent_p.F1923F|NSD1_ENST00000354179.4_Silent_p.F1923F|NSD1_ENST00000361032.4_Silent_p.F2089F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2192					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.F2192F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGATGCTTTTCATTTCCAAAC	0.557			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - coding silent(2)	kidney(2)											103	101	102					5																	176720945		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6576C>T	5.37:g.176720945C>T			Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	CCDS4412.1																																																																																				0.557	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		T	176720945	C	T	176720945	2	4	554	1	0	0	0	0	0	0	0	1	10671	825	29	2		2	NSD1	5	176720945	Silent	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	50562419	176720945	4194315	48	29898											
RREB1	6239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7248780	7248780	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:7248780C>G	ENST00000349384.6	+	12	4957	c.4643C>G	c.(4642-4644)aCc>aGc	p.T1548S	RREB1_ENST00000379933.3_Missense_Mutation_p.T1548S|RREB1_ENST00000379938.2_Missense_Mutation_p.T1603S|RREB1_ENST00000334984.6_Missense_Mutation_p.T1337S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1548					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T1548S(1)|p.T1603S(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGCGAGCGAACCTTCACCTTG	0.547																																																2	Substitution - Missense(2)	kidney(2)											93	84	87					6																	7248780		2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4643C>G	6.37:g.7248780C>G	ENSP00000305560:p.Thr1548Ser		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755505	0.89843	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.46063	3.22;3.22;3.22;0.88	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.29588	0.0738	N	0.03177	-0.4	0.34078	D	0.659216	D;D;D	0.76494	0.995;0.996;0.999	D;D;D	0.74348	0.935;0.961;0.983	T	0.32025	-0.9922	10	0.18710	T	0.47	-60.7628	19.8411	0.96685	0.0:1.0:0.0:0.0	.	1337;1548;1603	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	S	1548;1603;1548;1337	ENSP00000369265:T1548S;ENSP00000369270:T1603S;ENSP00000305560:T1548S;ENSP00000335574:T1337S	ENSP00000335574:T1337S	T	+	2	0	RREB1	7193779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.133000	0.77259	2.683000	0.91414	0.655000	0.94253	ACC		0.547	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			G	7248780	C	G	7248780	3	3	554	1	0	0	0	0	1	0	0	0	13685	507	18	4	4846	4	RREB1	6	7248780	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08		7248780	163866287	49	29899											
BTN1A1	696	hgsc.bcm.edu;ucsc.edu	37	6	26501821	26501822	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:26501821_26501822insT	ENST00000244513.6	+	2	149_150	c.83_84insT	c.(82-87)ccctttfs	p.F29fs		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	29	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCGGCAGCTCCCTTTGACGTGA	0.649																																																0																																										SO:0001589	frameshift_variant	696			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	Exception_encountered	6.37:g.26501821_26501822insT	ENSP00000244513:p.Phe29fs		Q4VAN3|Q4VAN4|Q9H458	Frame_Shift_Ins	INS	ENST00000244513.6	37	CCDS4614.1																																																																																				0.649	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		T	26501822	-	T	26501821	7	5	554	1	0	1	1	0	0	0	0	0	1561	623	22	0	89	0	BTN1A1	6	26501821	Frame_Shift_Ins	INS	-	TCGA-CJ-6030-01A-11D-1669-08	19253041	26501821	144613246	50	29900											
TUBB	203068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	30688293	30688293	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:30688293A>C	ENST00000327892.8	+	1	316	c.10A>C	c.(10-12)Atc>Ctc	p.I4L	TUBB_ENST00000435534.1_Missense_Mutation_p.I4L|TUBB_ENST00000330914.3_5'Flank|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396389.1_5'Flank|MDC1_ENST00000376405.2_5'Flank|TUBB_ENST00000396384.1_5'Flank|MDC1_ENST00000376406.3_5'Flank	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	4					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.I4L(1)		breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CATGAGGGAAATCGTGCACAT	0.413																																																1	Substitution - Missense(1)	kidney(1)											103	90	94					6																	30688293		2203	4300	6503	SO:0001583	missense	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.10A>C	6.37:g.30688293A>C	ENSP00000339001:p.Ile4Leu		P05218|Q8WUC1|Q9CY33	Missense_Mutation	SNP	ENST00000327892.8	37	CCDS4687.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.751500	0.89753	.	.	ENSG00000196230	ENST00000327892;ENST00000422827;ENST00000435534	T;T	0.75704	-0.96;-0.96	4.53	4.53	0.55603	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.84948	2.725	0.58432	D	0.999996	P;D	0.57257	0.898;0.979	D;D	0.87578	0.998;0.997	D	0.86646	0.1895	10	0.87932	D	0	.	12.0935	0.53742	1.0:0.0:0.0:0.0	.	4;4	P07437;F8VW92	TBB5_HUMAN;.	L	4	ENSP00000339001:I4L;ENSP00000391672:I4L	ENSP00000339001:I4L	I	+	1	0	TUBB	30796272	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.229000	0.95273	1.818000	0.53035	0.260000	0.18958	ATC		0.413	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		C	30688293	A	C	30688293	3	2	554	1	0	0	0	0	1	0	0	0	16757	101	4	5	12	5	TUBB	6	30688293	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	4186472	30688293	140426774	51	29901											
BAT2	7916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	31594808	31594808	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:31594808G>A	ENST00000376033.2	+	11	1357	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G375S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	375	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G375S(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGAAGCAGATGGCAAAAAGGG	0.562																																																1	Substitution - Missense(1)	kidney(1)											69	72	71					6																	31594808		2203	4300	6503	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1123G>A	6.37:g.31594808G>A	ENSP00000365201:p.Gly375Ser		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850443	0.32699	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01527	4.8;4.8	4.6	2.8	0.32819	.	0.388456	0.22338	N	0.061365	T	0.00580	0.0019	N	0.22421	0.69	0.28716	N	0.903271	B	0.10296	0.003	B	0.08055	0.003	T	0.48210	-0.9055	10	0.87932	D	0	-7.0743	8.4775	0.33023	0.1943:0.0:0.8057:0.0	.	375	P48634	PRC2A_HUMAN	S	375	ENSP00000365175:G375S;ENSP00000365201:G375S	ENSP00000365175:G375S	G	+	1	0	PRRC2A	31702787	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.702000	0.37836	1.284000	0.44531	0.655000	0.94253	GGC		0.562	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		A	31594808	G	A	31594808	3	1	554	1	0	0	0	0	1	0	0	0	1319	1348	47	2	1161	2	BAT2	6	31594808	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	906515	31594808	139520259	52	29902											
C6orf47	57827	broad.mit.edu;hgsc.bcm.edu	37	6	31627604	31627604	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:31627604T>A	ENST00000375911.1	-	1	945	c.121A>T	c.(121-123)Agt>Tgt	p.S41C	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	41						cytoplasm (GO:0005737)		p.S41C(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TCCCAGTCACTTCCTGAATTC	0.602																																																1	Substitution - Missense(1)	kidney(1)											43	41	42					6																	31627604		1511	2708	4219	SO:0001583	missense	57827			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.121A>T	6.37:g.31627604T>A	ENSP00000365076:p.Ser41Cys		B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	ENST00000375911.1	37	CCDS34399.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320332	0.81469	.	.	ENSG00000204439	ENST00000375911;ENST00000538106	T	0.45276	0.9	5.44	5.44	0.79542	.	0.000000	0.53938	D	0.000041	T	0.51160	0.1658	M	0.62723	1.935	0.34447	D	0.700262	D	0.89917	1.0	D	0.87578	0.998	T	0.60301	-0.7290	10	0.87932	D	0	-9.8976	11.8174	0.52218	0.0:0.0:0.0:1.0	.	41	O95873	CF047_HUMAN	C	41	ENSP00000365076:S41C	ENSP00000365076:S41C	S	-	1	0	C6orf47	31735583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.427000	0.52785	2.288000	0.76882	0.533000	0.62120	AGT		0.602	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		A	31627604	T	A	31627604	3	1	554	1	0	0	0	0	1	0	0	0	2366	1609	56	5	767	5	C6orf47	6	31627604	Missense_Mutation	SNP	T	TCGA-CJ-6030-01A-11D-1669-08	32796	31627604	139487463	53	29903											
NOTCH4	4855	hgsc.bcm.edu	37	6	32187443	32187443	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:32187443C>A	ENST00000375023.3	-	8	1574	c.1436G>T	c.(1435-1437)tGc>tTc	p.C479F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	479	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.C479F(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGGGAGAGGCACTCATTGTG	0.607																																																1	Substitution - Missense(1)	kidney(1)											102	69	81					6																	32187443		1511	2709	4220	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1436G>T	6.37:g.32187443C>A	ENSP00000364163:p.Cys479Phe		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448481	0.63178	.	.	ENSG00000204301	ENST00000375023	D	0.94793	-3.52	4.0	4.0	0.46444	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45606	D	0.000346	D	0.98535	0.9511	H	0.99726	4.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98824	1.0748	10	0.87932	D	0	.	13.6604	0.62363	0.0:1.0:0.0:0.0	.	479;479	Q6P3V5;Q99466	.;NOTC4_HUMAN	F	479	ENSP00000364163:C479F	ENSP00000364163:C479F	C	-	2	0	NOTCH4	32295421	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.189000	0.77747	2.069000	0.61940	0.455000	0.32223	TGC		0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			A	32187443	C	A	32187443	3	1	554	1	0	0	0	0	1	0	0	0	10553	710	25	4	4667	4	NOTCH4	6	32187443	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	559839	32187443	138927624	54	29904											
PSMB8	5696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	32808790	32808790	+	Silent	SNP	T	T	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:32808790T>A	ENST00000374882.3	-	6	827	c.777A>T	c.(775-777)gtA>gtT	p.V259V	PSMB8_ENST00000395339.3_Silent_p.V235V|PSMB8_ENST00000374881.2_Silent_p.V255V|TAP2_ENST00000374899.4_5'Flank|TAP2_ENST00000452392.2_5'Flank|TAP2_ENST00000374897.2_5'Flank	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	259					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)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|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)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.V255V(1)|p.V259V(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	CTGTACTTTCTACTTTCACCC	0.502																																					NSCLC(48;53 1172 10859 13624 22883)											2	Substitution - coding silent(2)	kidney(2)											185	155	165					6																	32808790		2203	4300	6503	SO:0001819	synonymous_variant	5696				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.777A>T	6.37:g.32808790T>A			B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	ENST00000374882.3	37	CCDS4757.1																																																																																				0.502	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		A	32808790	T	A	32808790	2	1	554	1	0	0	0	0	0	0	0	1	12688	1509	53	5		5	PSMB8	6	32808790	Silent	SNP	T	TCGA-CJ-6030-01A-11D-1669-08	621347	32808790	138306277	55	29905											
RXRB	6257	broad.mit.edu;hgsc.bcm.edu	37	6	33163416	33163416	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:33163416A>G	ENST00000374680.3	-	7	1398	c.1187T>C	c.(1186-1188)cTc>cCc	p.L396P	RXRB_ENST00000544186.1_Missense_Mutation_p.L206P|RXRB_ENST00000374685.4_Missense_Mutation_p.L396P	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	396	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L396P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGTGGCAAGGAGGATGCCATC	0.567																																																1	Substitution - Missense(1)	kidney(1)											78	72	74					6																	33163416		1511	2708	4219	SO:0001583	missense	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1187T>C	6.37:g.33163416A>G	ENSP00000363812:p.Leu396Pro		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752572	0.69533	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186	D;D;D	0.96992	-4.2;-4.2;-4.2	5.35	5.35	0.76521	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000001	D	0.98532	0.9510	H	0.95260	3.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	D	0.99679	1.0998	10	0.87932	D	0	.	13.3302	0.60483	1.0:0.0:0.0:0.0	.	206;396;436;396	E9PK95;Q5STP9;Q59G65;P28702	.;.;.;RXRB_HUMAN	P	396;396;206	ENSP00000363817:L396P;ENSP00000363812:L396P;ENSP00000439222:L206P	ENSP00000363812:L396P	L	-	2	0	RXRB	33271394	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.088000	0.94132	2.246000	0.74042	0.448000	0.29417	CTC		0.567	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		G	33163416	A	G	33163416	3	3	554	1	0	0	0	0	1	0	0	0	13770	304	11	3	430	3	RXRB	6	33163416	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	354626	33163416	137951651	56	29906											
KIAA0240	23506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	42796273	42796273	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:42796273C>T	ENST00000314073.5	+	6	378	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.L68F			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	68								p.L68F(1)									AAGCAACCAGCTTGGAGAAGG	0.428																																																1	Substitution - Missense(1)	kidney(1)											94	87	89					6																	42796273		2203	4300	6503	SO:0001583	missense	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.202C>T	6.37:g.42796273C>T	ENSP00000313933:p.Leu68Phe		A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642629	0.47153	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.53423	0.62;0.62	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000012	T	0.56804	0.2010	L	0.55481	1.735	0.43107	D	0.994806	D;P;P	0.71674	0.998;0.607;0.607	D;B;B	0.69142	0.962;0.187;0.12	T	0.56577	-0.7956	10	0.62326	D	0.03	-17.1116	15.8523	0.78943	0.0:0.8651:0.1349:0.0	.	68;68;68	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	F	68	ENSP00000313933:L68F;ENSP00000377723:L68F	ENSP00000313933:L68F	L	+	1	0	KIAA0240	42904251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.926000	0.56491	2.902000	0.99343	0.650000	0.86243	CTT		0.428	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		T	42796273	C	T	42796273	3	4	554	1	0	0	0	0	1	0	0	0	8166	797	28	2	216	2	KIAA0240	6	42796273	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	9632857	42796273	128318794	57	29907											
TINAG	27283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	54214608	54214608	+	Missense_Mutation	SNP	C	C	T	rs35758529		TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:54214608C>T	ENST00000259782.4	+	7	1090	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	332					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R332W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCGAGGAAAACGGCATGCCAC	0.458																																																1	Substitution - Missense(1)	kidney(1)											155	141	146					6																	54214608		2203	4300	6503	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.994C>T	6.37:g.54214608C>T	ENSP00000259782:p.Arg332Trp		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844446	0.71488	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.84223	-1.82	5.87	2.73	0.32206	Peptidase C1A, papain C-terminal (2);	0.166795	0.41712	D	0.000836	D	0.89276	0.6669	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90114	0.4194	10	0.66056	D	0.02	.	12.9501	0.58394	0.4644:0.5356:0.0:0.0	.	332	Q9UJW2	TINAG_HUMAN	W	191;332;11	ENSP00000259782:R332W	ENSP00000259782:R332W	R	+	1	2	TINAG	54322567	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.888000	0.28268	0.758000	0.33059	0.591000	0.81541	CGG		0.458	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		T	54214608	C	T	54214608	3	4	554	1	0	0	0	0	1	0	0	0	15926	527	19	1	1020	1	TINAG	6	54214608	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	11418335	54214608	116900459	58	29908											
EYS	346007	broad.mit.edu;hgsc.bcm.edu	37	6	66112428	66112428	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:66112428G>A	ENST00000370621.3	-	7	1653	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	EYS_ENST00000393380.2_Missense_Mutation_p.S376L|EYS_ENST00000370616.2_Missense_Mutation_p.S376L|EYS_ENST00000370618.3_Missense_Mutation_p.S376L|EYS_ENST00000342421.5_Missense_Mutation_p.S376L|EYS_ENST00000503581.1_Missense_Mutation_p.S376L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	376	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S376L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAAAGGAAATGACTCACATGA	0.284																																																2	Substitution - Missense(2)	kidney(2)											57	57	57					6																	66112428		2202	4287	6489	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1127C>T	6.37:g.66112428G>A	ENSP00000359655:p.Ser376Leu		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	G	10.57	1.387766	0.25031	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	4.68	0.789	0.18607	.	.	.	.	.	T	0.64616	0.2614	L	0.53780	1.695	0.09310	N	1	B;B;B	0.22909	0.017;0.077;0.046	B;B;B	0.23275	0.033;0.045;0.02	T	0.58707	-0.7589	9	0.87932	D	0	.	3.8437	0.08925	0.3789:0.0:0.4598:0.1613	.	376;376;376	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	376	ENSP00000424243:S376L;ENSP00000359655:S376L;ENSP00000359650:S376L;ENSP00000377042:S376L;ENSP00000341818:S376L;ENSP00000359652:S376L	ENSP00000341818:S376L	S	-	2	0	EYS	66169149	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.112000	0.15479	-0.160000	0.11002	0.591000	0.81541	TCA		0.284	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		A	66112428	G	A	66112428	3	1	554	1	0	0	0	0	1	0	0	0	5334	1294	45	2	8417	2	EYS	6	66112428	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	11897820	66112428	105002639	59	29909											
HTR1E	3354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	87725418	87725418	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:87725418G>T	ENST00000305344.5	+	2	1069	c.366G>T	c.(364-366)tgG>tgT	p.W122C		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	122					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.W122C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ACAGGTACTGGGCCATCACCA	0.557																																																1	Substitution - Missense(1)	kidney(1)											107	86	93					6																	87725418		2203	4300	6503	SO:0001583	missense	3354				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.366G>T	6.37:g.87725418G>T	ENSP00000307766:p.Trp122Cys		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503046	0.64298	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.36699	1.24;1.24	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000016	T	0.48732	0.1516	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54892	-0.8225	10	0.87932	D	0	.	17.3338	0.87274	0.0:0.0:1.0:0.0	.	122	P28566	5HT1E_HUMAN	C	122	ENSP00000307766:W122C;ENSP00000358597:W122C	ENSP00000307766:W122C	W	+	3	0	HTR1E	87782137	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.219000	0.95173	2.085000	0.62840	0.404000	0.27445	TGG		0.557	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		T	87725418	G	T	87725418	3	4	554	1	0	0	0	0	1	0	0	0	7441	1241	43	4	368	4	HTR1E	6	87725418	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	21612990	87725418	83389649	60	29910											
VGLL2	245806	hgsc.bcm.edu;ucsc.edu	37	6	117589513	117589514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:117589513_117589514insG	ENST00000326274.5	+	2	440_441	c.250_251insG	c.(250-252)cgcfs	p.R84fs	VGLL2_ENST00000352536.3_Frame_Shift_Ins_p.R84fs	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	84					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.R84S(1)		central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CATCAACTCCCGCTGCGTCCTC	0.559																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001589	frameshift_variant	245806			AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.251dupG	6.37:g.117589514_117589514dupG	ENSP00000320957:p.Arg84fs		Q8WWX1	Frame_Shift_Ins	INS	ENST00000326274.5	37	CCDS5115.1																																																																																				0.559	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		G	117589514	-	G	117589513	7	5	554	1	0	1	1	0	0	0	0	0	17164	652	23	0	256	0	VGLL2	6	117589513	Frame_Shift_Ins	INS	-	TCGA-CJ-6030-01A-11D-1669-08	29864095	117589513	53525554	61	29911											
IFNGR1	3459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	137528120	137528120	+	Silent	SNP	G	G	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr6:137528120G>A	ENST00000367739.4	-	2	301	c.180C>T	c.(178-180)acC>acT	p.T60T	IFNGR1_ENST00000367735.2_Silent_p.T50T|IFNGR1_ENST00000478333.1_5'UTR|IFNGR1_ENST00000543628.1_Silent_p.T32T	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	60					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)	p.T60T(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TTACCTCTACGGTAAAAACAG	0.373																																																1	Substitution - coding silent(1)	kidney(1)											122	119	120					6																	137528120		2203	4300	6503	SO:0001819	synonymous_variant	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.180C>T	6.37:g.137528120G>A			B4DFT7|E1P587|Q53Y96	Silent	SNP	ENST00000367739.4	37	CCDS5185.1																																																																																				0.373	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			A	137528120	G	A	137528120	2	1	554	1	0	0	0	0	0	0	0	1	7551	1103	39	1		1	IFNGR1	6	137528120	Silent	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	19938607	137528120	33586947	62	29912											
HIP1	3092	broad.mit.edu;hgsc.bcm.edu	37	7	75168737	75168737	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr7:75168737C>A	ENST00000336926.6	-	30	2993	c.2967G>T	c.(2965-2967)gaG>gaT	p.E989D	HIP1_ENST00000434438.2_Missense_Mutation_p.E938D	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	989	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.E991D(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATTTTCTAGCTCTAGCACCC	0.418			T	PDGFRB	CMML																																		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	1	Substitution - Missense(1)	kidney(1)											198	198	198					7																	75168737		2203	4300	6503	SO:0001583	missense	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2967G>T	7.37:g.75168737C>A	ENSP00000336747:p.Glu989Asp		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105975	0.77096	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.46451	0.87;0.87	5.31	3.47	0.39725	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.63414	0.2509	M	0.85197	2.74	0.48975	D	0.999732	D;D	0.55172	0.97;0.966	P;D	0.69307	0.868;0.963	T	0.67546	-0.5643	10	0.87932	D	0	-31.404	9.0989	0.36656	0.0:0.7596:0.0:0.2404	.	938;989	E7ES17;O00291	.;HIP1_HUMAN	D	989;938	ENSP00000336747:E989D;ENSP00000410300:E938D	ENSP00000336747:E989D	E	-	3	2	HIP1	75006673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.065000	0.49994	1.380000	0.46344	0.655000	0.94253	GAG		0.418	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		A	75168737	C	A	75168737	3	1	554	1	0	0	0	0	1	0	0	0	7116	796	28	4	154	4	HIP1	7	75168737	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08		75168737	83969926	63	29913											
FZD1	8321	broad.mit.edu;hgsc.bcm.edu	37	7	90895797	90895797	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr7:90895797G>T	ENST00000287934.2	+	1	2015	c.1602G>T	c.(1600-1602)atG>atT	p.M534I		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	534					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.M534I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGAAGCTCATGGTGCGCATTG	0.597																																																1	Substitution - Missense(1)	kidney(1)											140	112	122					7																	90895797		2203	4300	6503	SO:0001583	missense	8321			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1602G>T	7.37:g.90895797G>T	ENSP00000287934:p.Met534Ile		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459658	0.84317	.	.	ENSG00000157240	ENST00000287934	D	0.83506	-1.73	5.03	5.03	0.67393	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.89691	0.6788	M	0.68593	2.085	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	D	0.90412	0.4410	10	0.66056	D	0.02	.	18.5476	0.91053	0.0:0.0:1.0:0.0	.	534	Q9UP38	FZD1_HUMAN	I	534	ENSP00000287934:M534I	ENSP00000287934:M534I	M	+	3	0	FZD1	90733733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.643000	0.98464	2.607000	0.88179	0.655000	0.94253	ATG		0.597	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		T	90895797	G	T	90895797	3	4	554	1	0	0	0	0	1	0	0	0	6130	1348	47	4	1604	4	FZD1	7	90895797	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	15727060	90895797	68242866	64	29914											
MNX1	3110	broad.mit.edu	37	7	156798268	156798268	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr7:156798268delG	ENST00000252971.6	-	3	1452	c.1152delC	c.(1150-1152)tccfs	p.S385fs	MNX1_ENST00000543409.1_Frame_Shift_Del_p.S173fs|MNX1_ENST00000469500.1_Intron|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	385					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTCCTCCGAGGAGCAGTCGG	0.751																																																0													34	12	19					7																	156798268		1950	3922	5872	SO:0001589	frameshift_variant	3110			AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"Homeoboxes / ANTP class : HOXL subclass"	4979	protein-coding gene	gene with protein product		142994	"homeo box HB9", "homeobox HB9"	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.1152delC	7.37:g.156798268delG	ENSP00000252971:p.Ser385fs		F5H401|Q9Y648	Frame_Shift_Del	DEL	ENST00000252971.6	37	CCDS34788.1																																																																																				0.751	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			-	156798268	G	-	156798268	7	5	554	1	0	1	0	1	0	0	0	0	9681	987	35	0	57	0	MNX1	7	156798268	Frame_Shift_Del	DEL	G	TCGA-CJ-6030-01A-11D-1669-08	65902471	156798268	2340395	65	29915											
PPP2R2A	5520	broad.mit.edu;ucsc.edu	37	8	26217736	26217736	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr8:26217736G>T	ENST00000380737.3	+	5	727	c.398G>T	c.(397-399)gGg>gTg	p.G133V	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.G143V	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	133					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.G133V(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		AGACCAGAAGGGTATAACTTG	0.328																																																1	Substitution - Missense(1)	kidney(1)											97	99	98					8																	26217736		2203	4300	6503	SO:0001583	missense	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.398G>T	8.37:g.26217736G>T	ENSP00000370113:p.Gly133Val		B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655790	0.88056	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.31247	1.51;1.5	5.18	5.18	0.71444	WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.32585	0.0834	M	0.65320	2	0.80722	D	1	B;P	0.42296	0.053;0.775	B;B	0.34242	0.085;0.178	T	0.26883	-1.0090	10	0.48119	T	0.1	-13.4216	19.0947	0.93246	0.0:0.0:1.0:0.0	.	143;133	B4E1T7;P63151	.;2ABA_HUMAN	V	133;143	ENSP00000370113:G133V;ENSP00000325074:G143V	ENSP00000325074:G143V	G	+	2	0	PPP2R2A	26273653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.623000	0.98386	2.593000	0.87608	0.585000	0.79938	GGG		0.328	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		T	26217736	G	T	26217736	3	4	554	1	0	0	0	0	1	0	0	0	12389	1232	43	4	457	4	PPP2R2A	8	26217736	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08		26217736	120146286	66	29916											
ELAVL2	1993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	23705049	23705049	+	Silent	SNP	A	A	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr9:23705049A>G	ENST00000397312.2	-	4	628	c.354T>C	c.(352-354)agT>agC	p.S118S	ELAVL2_ENST00000223951.6_Silent_p.S118S|ELAVL2_ENST00000380117.1_Silent_p.S118S|ELAVL2_ENST00000380110.4_Silent_p.S147S|ELAVL2_ENST00000544538.1_Silent_p.S118S	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	118					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S118S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TAGAAGCTGAACTTGGGCGAG	0.403																																																1	Substitution - coding silent(1)	kidney(1)											93	93	93					9																	23705049		2203	4300	6503	SO:0001819	synonymous_variant	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.354T>C	9.37:g.23705049A>G			D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	ENST00000397312.2	37	CCDS6515.1																																																																																				0.403	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		G	23705049	A	G	23705049	2	3	554	1	0	0	0	0	0	0	0	1	5052	40	2	3		3	ELAVL2	9	23705049	Silent	SNP	A	TCGA-CJ-6030-01A-11D-1669-08		23705049	117508382	67	29917											
ACO1	48	broad.mit.edu	37	9	32427337	32427337	+	Missense_Mutation	SNP	G	G	A	rs189305274	byFrequency	TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr9:32427337G>A	ENST00000309951.6	+	12	1525	c.1387G>A	c.(1387-1389)Gtg>Atg	p.V463M	ACO1_ENST00000379923.1_Missense_Mutation_p.V463M|ACO1_ENST00000541043.1_Missense_Mutation_p.V364M	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	463					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.V463M(2)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGGCCTGAACGTGATGCCTTA	0.517													G|||	8	0.00159744	0.0	0.0	5008	,	,		20198	0.0079		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)						G	MET/VAL	3,4403	6.2+/-15.9	0,3,2200	174	140	151		1387	6.1	1	9		151	0,8600		0,0,4300	yes	missense	ACO1	NM_002197.2	21	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	463/890	32427337	3,13003	2203	4300	6503	SO:0001583	missense	48			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1387G>A	9.37:g.32427337G>A	ENSP00000309477:p.Val463Met		D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	CCDS6525.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	23.6	4.435295	0.83885	6.81E-4	0.0	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.21191	2.02;2.02;2.02	6.07	6.07	0.98685	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	M	0.92555	3.32	0.80722	D	1	D;P	0.60160	0.987;0.883	P;P	0.53102	0.718;0.679	T	0.58059	-0.7703	10	0.56958	D	0.05	-9.5504	19.4308	0.94765	0.0:0.0:1.0:0.0	.	499;463	Q59FI0;P21399	.;ACOC_HUMAN	M	499;463;463;364	ENSP00000309477:V463M;ENSP00000369255:V463M;ENSP00000438733:V364M	ENSP00000309477:V463M	V	+	1	0	ACO1	32417337	1.000000	0.71417	0.972000	0.41901	0.981000	0.71138	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GTG		0.517	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		A	32427337	G	A	32427337	3	1	554	1	0	0	0	0	1	0	0	0	146	1145	40	1	1429	1	ACO1	9	32427337	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	8722288	32427337	108786094	68	29918											
RUSC2	9853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35547730	35547730	+	Silent	SNP	A	A	T	rs367983066		TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr9:35547730A>T	ENST00000455600.1	+	2	1781	c.1212A>T	c.(1210-1212)ctA>ctT	p.L404L		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	404						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.L404L(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCTGTGACCTATCTTCCCAAT	0.562																																																1	Substitution - coding silent(1)	kidney(1)											92	101	98					9																	35547730		2203	4300	6503	SO:0001819	synonymous_variant	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1212A>T	9.37:g.35547730A>T			A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	CCDS35008.1																																																																																				0.562	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		T	35547730	A	T	35547730	2	4	554	1	0	0	0	0	0	0	0	1	13757	436	16	5		5	RUSC2	9	35547730	Silent	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	3120393	35547730	105665701	69	29919											
C9orf84	158401	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	114454520	114454520	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr9:114454520A>T	ENST00000318737.4	-	25	3673	c.3545T>A	c.(3544-3546)gTg>gAg	p.V1182E	C9orf84_ENST00000394779.3_Missense_Mutation_p.V1143E|C9orf84_ENST00000394777.4_Missense_Mutation_p.V1108E|C9orf84_ENST00000374287.3_Missense_Mutation_p.V1182E	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1182								p.V1182E(1)|p.V1143E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTATGAAGTCACAGGTGGTAA	0.373																																																2	Substitution - Missense(2)	kidney(2)											96	99	98					9																	114454520		2203	4300	6503	SO:0001583	missense	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3545T>A	9.37:g.114454520A>T	ENSP00000322108:p.Val1182Glu		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	A	8.721	0.914316	0.17907	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.04551	3.6;3.61;3.6;3.6	5.53	1.52	0.23074	.	1.135070	0.06617	N	0.756741	T	0.04952	0.0133	N	0.19112	0.55	0.09310	N	1	P;P;P	0.41848	0.763;0.763;0.763	P;P;P	0.44897	0.463;0.463;0.463	T	0.45804	-0.9236	10	0.30854	T	0.27	1.4487	6.3602	0.21425	0.4972:0.0:0.5028:0.0	.	1108;1182;1143	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	E	1143;1108;796;1182;1182	ENSP00000378259:V1143E;ENSP00000378257:V1108E;ENSP00000363405:V1182E;ENSP00000322108:V1182E	ENSP00000322108:V1182E	V	-	2	0	C9orf84	113494341	0.061000	0.20836	0.015000	0.15790	0.355000	0.29361	0.917000	0.28665	0.472000	0.27344	0.460000	0.39030	GTG		0.373	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		T	114454520	A	T	114454520	3	4	554	1	0	0	0	0	1	0	0	0	2502	159	6	5	797	5	C9orf84	9	114454520	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	78906790	114454520	26758911	70	29920											
ASS1	445	broad.mit.edu;hgsc.bcm.edu	37	9	133333803	133333803	+	Missense_Mutation	SNP	G	G	T	rs556297791		TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr9:133333803G>T	ENST00000372394.1	+	5	671	c.190G>T	c.(190-192)Gtc>Ttc	p.V64F	ASS1_ENST00000352480.5_Missense_Mutation_p.V64F|ASS1_ENST00000372393.3_Missense_Mutation_p.V64F			P00966	ASSY_HUMAN	argininosuccinate synthase 1	64					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)	p.V64F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CATTGAGGATGTCAGCAGGGA	0.602																																																1	Substitution - Missense(1)	kidney(1)											103	101	102					9																	133333803		2203	4300	6503	SO:0001583	missense	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.190G>T	9.37:g.133333803G>T	ENSP00000361471:p.Val64Phe		Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778554	0.49786	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000422569;ENST00000443588	D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58	4.88	2.01	0.26516	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.485868	0.18812	U	0.130471	D	0.95793	0.8631	M	0.78049	2.395	0.45025	D	0.998043	P;P;P	0.39665	0.682;0.682;0.682	P;P;P	0.54759	0.58;0.76;0.76	D	0.94475	0.7688	10	0.87932	D	0	.	8.6114	0.33804	0.3965:0.0:0.6035:0.0	.	64;64;64	A8KAP9;Q5T6L4;P00966	.;.;ASSY_HUMAN	F	64	ENSP00000253004:V64F;ENSP00000361471:V64F;ENSP00000361469:V64F;ENSP00000394212:V64F;ENSP00000397785:V64F	ENSP00000361470:V64F	V	+	1	0	ASS1	132323624	0.386000	0.25180	0.956000	0.39512	0.668000	0.39293	0.479000	0.22228	0.478000	0.27488	0.650000	0.86243	GTC		0.602	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		T	133333803	G	T	133333803	3	4	554	1	0	0	0	0	1	0	0	0	1061	1377	48	4	200	4	ASS1	9	133333803	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	18879283	133333803	7879628	71	29921											
ADAMTS13	11093	hgsc.bcm.edu;ucsc.edu	37	9	136290647	136290647	+	Splice_Site	SNP	A	A	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr9:136290647A>G	ENST00000371929.3	+	4	774		c.e4-1		ADAMTS13_ENST00000355699.2_Splice_Site|ADAMTS13_ENST00000485925.1_Splice_Site|ADAMTS13_ENST00000371911.3_Splice_Site|ADAMTS13_ENST00000371916.1_Splice_Site|ADAMTS13_ENST00000356589.2_Splice_Site	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13						cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCCTTGCACAGGGGGCAGAA	0.637																																																0													39	37	38					9																	136290647		2203	4300	6503	SO:0001630	splice_region_variant	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.331-1A>G	9.37:g.136290647A>G			Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Splice_Site	SNP	ENST00000371929.3	37	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917492	0.52546	.	.	ENSG00000160323	ENST00000371929;ENST00000371916;ENST00000355699;ENST00000356589;ENST00000371911	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8109	0.57639	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTS13	135280468	1.000000	0.71417	0.986000	0.45419	0.563000	0.35712	8.158000	0.89649	1.696000	0.51158	0.378000	0.23410	.		0.637	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025	Intron	G	136290647	A	G	136290647	5	3	554	1	0	0	0	0	0	0	1	0	258	202	7	3	343	3	ADAMTS13	9	136290647	Splice_Site	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	2956844	136290647	4922784	72	29922											
DNA2	1763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70227941	70227941	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr10:70227941C>T	ENST00000358410.3	-	3	430	c.380G>A	c.(379-381)gGc>gAc	p.G127D	DNA2_ENST00000399180.2_Missense_Mutation_p.G213D|DNA2_ENST00000399179.2_Missense_Mutation_p.G127D	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	127	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.G213D(1)|p.G127D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TATGCTGGTGCCAGAAATCAG	0.388																																																2	Substitution - Missense(2)	kidney(2)											98	91	93					10																	70227941		1845	4097	5942	SO:0001583	missense	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.380G>A	10.37:g.70227941C>T	ENSP00000351185:p.Gly127Asp		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37		.	.	.	.	.	.	.	.	.	.	C	27.4	4.824988	0.90955	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.94650	-2.98;-3.48;-2.95	5.4	5.4	0.78164	DNA replication factor Dna2 (1);	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97386	0.9986	10	0.51188	T	0.08	.	18.7691	0.91883	0.0:1.0:0.0:0.0	.	127;127	F8VR31;P51530	.;DNA2L_HUMAN	D	127;213;127;127	ENSP00000382133:G213D;ENSP00000382132:G127D;ENSP00000351185:G127D	ENSP00000351185:G127D	G	-	2	0	DNA2	69897947	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.149000	0.71795	2.537000	0.85549	0.491000	0.48974	GGC		0.388	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			T	70227941	C	T	70227941	3	4	554	1	0	0	0	0	1	0	0	0	4598	739	26	2	2878	2	DNA2	10	70227941	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08		70227941	65306806	73	29923											
ENTPD1	953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	97607250	97607250	+	Silent	SNP	T	T	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr10:97607250T>C	ENST00000371205.4	+	7	1144	c.861T>C	c.(859-861)taT>taC	p.Y287Y	ENTPD1_ENST00000371207.3_Silent_p.Y299Y|ENTPD1_ENST00000543964.1_Silent_p.Y179Y|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Silent_p.Y149Y|ENTPD1_ENST00000371203.5_Silent_p.Y149Y|ENTPD1_ENST00000453258.2_Silent_p.Y294Y			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	287					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.Y287Y(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ATCCTGGATATAAGAAGGTAG	0.413																																																1	Substitution - coding silent(1)	kidney(1)											125	122	123					10																	97607250		2203	4300	6503	SO:0001819	synonymous_variant	953			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.861T>C	10.37:g.97607250T>C			A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	CCDS7444.1																																																																																				0.413	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		C	97607250	T	C	97607250	2	2	554	1	0	0	0	0	0	0	0	1	5140	1413	49	3		3	ENTPD1	10	97607250	Silent	SNP	T	TCGA-CJ-6030-01A-11D-1669-08	27379309	97607250	37927497	74	29924											
TACC2	10579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	123846868	123846868	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr10:123846868T>C	ENST00000369005.1	+	4	5193	c.4853T>C	c.(4852-4854)tTt>tCt	p.F1618S	TACC2_ENST00000515603.1_Missense_Mutation_p.F1618S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.F1618S|TACC2_ENST00000515273.1_Missense_Mutation_p.F1618S|TACC2_ENST00000334433.3_Missense_Mutation_p.F1618S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1618					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.F1618S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCGGGGACTTTGCTCACACA	0.582																																																1	Substitution - Missense(1)	kidney(1)											82	81	81					10																	123846868		2203	4300	6503	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4853T>C	10.37:g.123846868T>C	ENSP00000358001:p.Phe1618Ser		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.366615	0.24771	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03212	4.1;4.01;4.04;4.1;4.01	5.55	-5.05	0.02955	.	1.902330	0.02936	N	0.139803	T	0.03011	0.0089	N	0.17082	0.46	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.08055	0.003;0.002;0.002	T	0.43114	-0.9411	10	0.30854	T	0.27	2.0649	11.4283	0.50025	0.0:0.6357:0.1156:0.2487	.	1618;1618;1618	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	S	1618;1618;1618;1618;1618;1608	ENSP00000358001:F1618S;ENSP00000424467:F1618S;ENSP00000427618:F1618S;ENSP00000334280:F1618S;ENSP00000395048:F1618S	ENSP00000334280:F1618S	F	+	2	0	TACC2	123836858	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-1.084000	0.03393	-0.832000	0.04251	-0.269000	0.10298	TTT		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			C	123846868	T	C	123846868	3	2	554	1	0	0	0	0	1	0	0	0	15507	1841	64	3	4863	3	TACC2	10	123846868	Missense_Mutation	SNP	T	TCGA-CJ-6030-01A-11D-1669-08	26239618	123846868	11687879	75	29925											
FAM196A	642938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	128974169	128974169	+	Missense_Mutation	SNP	G	G	A	rs551807342		TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr10:128974169G>A	ENST00000522781.1	-	4	1046	c.491C>T	c.(490-492)gCg>gTg	p.A164V	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.A164V	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	164								p.A164V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CACCCGCCCCGCGCCACATGG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		16789	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											75	74	74					10																	128974169		2203	4300	6503	SO:0001583	missense	642938				CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.491C>T	10.37:g.128974169G>A	ENSP00000429763:p.Ala164Val		B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	9.853	1.194153	0.22037	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.44881	0.91;0.91	4.17	2.04	0.26737	.	0.505390	0.23069	N	0.052294	T	0.36026	0.0952	M	0.63428	1.95	0.30881	N	0.731409	B;B	0.31640	0.333;0.054	B;B	0.25506	0.061;0.011	T	0.41998	-0.9477	10	0.56958	D	0.05	.	9.7222	0.40311	0.0849:0.1378:0.7773:0.0	.	164;164	B7ZME7;Q6ZSG2	.;F196A_HUMAN	V	164	ENSP00000429763:A164V;ENSP00000428730:A164V	ENSP00000428730:A164V	A	-	2	0	FAM196A	128864159	0.021000	0.18746	0.026000	0.17262	0.186000	0.23388	1.280000	0.33202	0.570000	0.29347	0.563000	0.77884	GCG		0.547	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		A	128974169	G	A	128974169	3	1	554	1	0	0	0	0	1	0	0	0	5530	1087	38	1	960	1	FAM196A	10	128974169	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	5127301	128974169	6560578	76	29926											
MKI67	4288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129913433	129913433	+	Silent	SNP	A	A	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr10:129913433A>C	ENST00000368654.3	-	7	1614	c.1239T>G	c.(1237-1239)acT>acG	p.T413T	MKI67_ENST00000368653.3_Intron|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	413					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T413T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCTGGCTTAGTGGCAGAGT	0.428																																																1	Substitution - coding silent(1)	kidney(1)											92	95	94					10																	129913433		2203	4300	6503	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1239T>G	10.37:g.129913433A>C			Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.428	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		C	129913433	A	C	129913433	2	2	554	1	0	0	0	0	0	0	0	1	9600	407	15	5		5	MKI67	10	129913433	Silent	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	939264	129913433	5621314	77	29927											
JAKMIP3	282973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	133930691	133930691	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr10:133930691G>C	ENST00000298622.4	+	2	384	c.246G>C	c.(244-246)gaG>gaC	p.E82D		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	82						Golgi apparatus (GO:0005794)		p.E82D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCACGAGGAGAAGATGAAGG	0.592																																																1	Substitution - Missense(1)	kidney(1)											50	59	56					10																	133930691		2196	4294	6490	SO:0001583	missense	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.246G>C	10.37:g.133930691G>C	ENSP00000298622:p.Glu82Asp		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484312	0.44147	.	.	ENSG00000188385	ENST00000298622	T	0.43688	0.94	4.53	0.117	0.14652	.	0.054756	0.64402	N	0.000001	T	0.32941	0.0846	L	0.55103	1.725	0.27060	N	0.963566	B	0.17038	0.02	B	0.16722	0.016	T	0.27971	-1.0058	10	0.59425	D	0.04	-29.7457	6.6243	0.22820	0.2899:0.2514:0.4586:0.0	.	82	Q5VZ66	JKIP3_HUMAN	D	82	ENSP00000298622:E82D	ENSP00000298622:E82D	E	+	3	2	JAKMIP3	133780681	0.397000	0.25270	1.000000	0.80357	0.972000	0.66771	-0.254000	0.08781	0.149000	0.19098	0.491000	0.48974	GAG		0.592	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		C	133930691	G	C	133930691	3	2	554	1	0	0	0	0	1	0	0	0	7944	933	33	4	252	4	JAKMIP3	10	133930691	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	4017258	133930691	1604056	78	29928											
NUP160	23279	broad.mit.edu;hgsc.bcm.edu	37	11	47828687	47828687	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr11:47828687G>A	ENST00000378460.2	-	19	2427	c.2381C>T	c.(2380-2382)tCt>tTt	p.S794F	NUP160_ENST00000528071.1_Missense_Mutation_p.S680F|NUP160_ENST00000530326.1_Missense_Mutation_p.S680F|RNA5SP340_ENST00000517132.1_RNA	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	794					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.S794F(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTGGAGATTAGACTCCCTGTG	0.358																																																1	Substitution - Missense(1)	kidney(1)											107	100	103					11																	47828687		2201	4298	6499	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2381C>T	11.37:g.47828687G>A	ENSP00000367721:p.Ser794Phe		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029349	0.75504	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.48522	1.38;0.82;0.81	5.97	5.97	0.96955	.	0.181219	0.49916	D	0.000122	T	0.38665	0.1049	L	0.41236	1.265	0.80722	D	1	B	0.32693	0.38	B	0.21917	0.037	T	0.13124	-1.0521	10	0.30078	T	0.28	.	17.1653	0.86814	0.0:0.0:1.0:0.0	.	794	Q12769	NU160_HUMAN	F	794;680;680	ENSP00000367721:S794F;ENSP00000433590:S680F;ENSP00000432367:S680F	ENSP00000367721:S794F	S	-	2	0	NUP160	47785263	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.855000	0.69510	2.833000	0.97629	0.585000	0.79938	TCT		0.358	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		A	47828687	G	A	47828687	3	1	554	1	0	0	0	0	1	0	0	0	10759	942	33	2	2001	2	NUP160	11	47828687	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08		47828687	87177829	79	29929											
BBS1	582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66287216	66287216	+	Silent	SNP	C	C	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr11:66287216C>G	ENST00000318312.7	+	8	771	c.720C>G	c.(718-720)gcC>gcG	p.A240A	BBS1_ENST00000537537.1_Silent_p.A128A|BBS1_ENST00000393994.2_Silent_p.A240A|CTD-3074O7.11_ENST00000419755.3_Silent_p.A277A|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Intron	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	240					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.A240A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CCATTTTAGCCAAGGTCAGCG	0.572									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)											1	Substitution - coding silent(1)	kidney(1)											64	54	57					11																	66287216		2200	4295	6495	SO:0001819	synonymous_variant	582	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.720C>G	11.37:g.66287216C>G			Q32MM9|Q32MN0|Q96SN4	Silent	SNP	ENST00000318312.7	37	CCDS8142.1																																																																																				0.572	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			G	66287216	C	G	66287216	2	3	554	1	0	0	0	0	0	0	0	1	1335	581	21	4		4	BBS1	11	66287216	Silent	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	18458529	66287216	68719300	80	29930											
RIMKLB	57494	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	8904578	8904578	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr12:8904578G>A	ENST00000538135.1	+	4	1257	c.432G>A	c.(430-432)atG>atA	p.M144I	RIMKLB_ENST00000357529.3_Missense_Mutation_p.M144I|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Missense_Mutation_p.M144I			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	144	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.M144I(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGCTAAAATGATTGATGAGG	0.373																																																1	Substitution - Missense(1)	kidney(1)											159	145	150					12																	8904578		1841	4082	5923	SO:0001583	missense	57494			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.432G>A	12.37:g.8904578G>A	ENSP00000440943:p.Met144Ile		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525301	0.64747	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	4.96	4.96	0.65561	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.000000	0.85682	U	0.000000	T	0.45115	0.1326	N	0.13043	0.29	0.80722	D	1	B;B	0.20887	0.019;0.049	B;B	0.26416	0.041;0.069	T	0.44314	-0.9336	9	0.62326	D	0.03	.	16.9516	0.86247	0.0:0.0:1.0:0.0	.	144;144	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	I	144	.	ENSP00000350136:M144I	M	+	3	0	RIMKLB	8795845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.029000	0.93718	2.576000	0.86940	0.591000	0.81541	ATG		0.373	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		A	8904578	G	A	8904578	3	1	554	1	0	0	0	0	1	0	0	0	13372	1290	45	2	442	2	RIMKLB	12	8904578	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08		8904578	124947317	81	29931											
TSPAN11	441631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	31136075	31136075	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr12:31136075C>A	ENST00000261177.9	+	7	751	c.692C>A	c.(691-693)gCc>gAc	p.A231D	TSPAN11_ENST00000546076.1_Missense_Mutation_p.A231D|TSPAN11_ENST00000535215.1_Missense_Mutation_p.A160D|TSPAN11_ENST00000544427.1_Missense_Mutation_p.A221D	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	231						integral component of membrane (GO:0016021)		p.A231D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ATCGGGGTGGCCTGCCTGCAG	0.622																																																1	Substitution - Missense(1)	kidney(1)											29	29	29					12																	31136075		2203	4300	6503	SO:0001583	missense	441631				CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"Tetraspanins"	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.692C>A	12.37:g.31136075C>A	ENSP00000261177:p.Ala231Asp		A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	37	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119048	0.77323	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	3.17	3.17	0.36434	.	0.000000	0.64402	U	0.000002	D	0.93103	0.7804	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.94459	0.7674	10	0.87932	D	0	.	12.1342	0.53961	0.0:1.0:0.0:0.0	.	221;231	F5H0F0;A1L157	.;TSN11_HUMAN	D	231;160;221;231	ENSP00000437403:A231D;ENSP00000445503:A160D;ENSP00000439895:A221D;ENSP00000261177:A231D	ENSP00000261177:A231D	A	+	2	0	TSPAN11	31027342	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.104000	0.77024	1.744000	0.51775	0.467000	0.42956	GCC		0.622	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334		A	31136075	C	A	31136075	3	1	554	1	0	0	0	0	1	0	0	0	16640	739	26	4	714	4	TSPAN11	12	31136075	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	22231497	31136075	102715820	82	29932											
LRP1	4035	hgsc.bcm.edu;ucsc.edu	37	12	57560827	57560833	+	Splice_Site	DEL	GTGGTAA	GTGGTAA	-			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	GTGGTAA	GTGGTAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr12:57560827_57560833delGTGGTAA	ENST00000243077.3	+	18	3378_3380	c.2912_2914delGTGGTAA	c.(2911-2916)tgtggt>tgt	p.G972fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	972	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTGCTTCGTGTGGTAAGAGGGATGGG	0.628																																																0																																										SO:0001630	splice_region_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2914+1GTGGTAA>-	12.37:g.57560827_57560833delGTGGTAA			Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	ENST00000243077.3	37	CCDS8932.1																																																																																				0.628	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	Frame_Shift_Del	-	57560833	GTGGTAA	-	57560827	8	5	554	1	0	1	0	1	0	0	1	0	8953	1377	48	0	2982	0	LRP1	12	57560827	Splice_Site	DEL	GTGGTAA	TCGA-CJ-6030-01A-11D-1669-08	26424752	57560827	76291068	83	29933											
SRGAP1	57522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	64377845	64377845	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr12:64377845A>C	ENST00000355086.3	+	2	710	c.186A>C	c.(184-186)gaA>gaC	p.E62D	SRGAP1_ENST00000543397.1_Missense_Mutation_p.E22D|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E62D	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	62	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.E62D(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TTGAGACGGAATATTCCCGGA	0.393																																																1	Substitution - Missense(1)	kidney(1)											116	118	117					12																	64377845		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.186A>C	12.37:g.64377845A>C	ENSP00000347198:p.Glu62Asp		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058809	0.55325	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.23147	1.92;1.92;2.19	5.13	0.894	0.19242	Fps/Fes/Fer/CIP4 homology (3);	0.209168	0.22341	N	0.061340	T	0.11750	0.0286	N	0.20685	0.6	0.58432	D	0.999996	B;B;B	0.26258	0.017;0.145;0.058	B;B;B	0.29785	0.107;0.101;0.065	T	0.15150	-1.0447	9	.	.	.	.	0.6149	0.00767	0.4457:0.1882:0.1818:0.1843	.	62;22;62	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	D	62;62;22	ENSP00000347198:E62D;ENSP00000350480:E62D;ENSP00000437948:E22D	.	E	+	3	2	SRGAP1	62664112	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.569000	0.36428	0.324000	0.23333	0.477000	0.44152	GAA		0.393	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			C	64377845	A	C	64377845	3	2	554	1	0	0	0	0	1	0	0	0	15150	98	4	5	192	5	SRGAP1	12	64377845	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	6817018	64377845	69474050	84	29934											
XPOT	11260	broad.mit.edu;hgsc.bcm.edu	37	12	64828368	64828368	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr12:64828368G>T	ENST00000332707.5	+	20	3063	c.2534G>T	c.(2533-2535)tGt>tTt	p.C845F		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	845	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.C845F(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CAGAAAACATGTTTTATCATC	0.353																																																1	Substitution - Missense(1)	kidney(1)											109	109	109					12																	64828368		2203	4300	6503	SO:0001583	missense	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2534G>T	12.37:g.64828368G>T	ENSP00000327821:p.Cys845Phe		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566712	0.86439	.	.	ENSG00000184575	ENST00000332707	T	0.66099	-0.19	5.2	5.2	0.72013	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.74562	-0.3624	9	.	.	.	.	19.1186	0.93353	0.0:0.0:1.0:0.0	.	845	O43592	XPOT_HUMAN	F	845	ENSP00000327821:C845F	.	C	+	2	0	XPOT	63114635	1.000000	0.71417	0.902000	0.35471	0.976000	0.68499	9.542000	0.98086	2.624000	0.88883	0.555000	0.69702	TGT		0.353	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		T	64828368	G	T	64828368	3	4	554	1	0	0	0	0	1	0	0	0	17455	1377	48	4	2608	4	XPOT	12	64828368	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	450523	64828368	69023527	85	29935											
FAM123A	219287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25743823	25743823	+	Silent	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr13:25743823C>T	ENST00000515384.1	-	1	2602	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	AMER2_ENST00000381853.3_Silent_p.L526L|AMER2_ENST00000357816.2_Silent_p.L526L			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	645					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.L526L(1)|p.L645L(1)									CTCTGCGGACCAGCACTTTGG	0.577																																																2	Substitution - coding silent(2)	kidney(2)											77	78	78					13																	25743823		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1935G>A	13.37:g.25743823C>T			Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	CCDS53859.1																																																																																				0.577	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		T	25743823	C	T	25743823	2	4	554	1	0	0	0	0	0	0	0	1	5424	581	21	2		2	FAM123A	13	25743823	Silent	SNP	C	TCGA-CJ-6030-01A-11D-1669-08		25743823	89426055	86	29936											
KLHL1	57626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	70281831	70281831	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr13:70281831C>T	ENST00000377844.4	-	10	2872	c.2113G>A	c.(2113-2115)Gtt>Att	p.V705I	KLHL1_ENST00000545028.1_Missense_Mutation_p.V512I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	705					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.V705I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TAGCCACCAACAGCATATAAT	0.448																																																1	Substitution - Missense(1)	kidney(1)											173	139	151					13																	70281831		2203	4299	6502	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.2113G>A	13.37:g.70281831C>T	ENSP00000367075:p.Val705Ile		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290076	0.80914	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.72051	-0.62;-0.62	5.19	5.19	0.71726	Galactose oxidase, beta-propeller (1);	0.000000	0.53938	D	0.000054	T	0.77857	0.4193	L	0.45137	1.4	0.53688	D	0.999973	P;P	0.45212	0.853;0.853	P;P	0.57548	0.773;0.823	T	0.76578	-0.2908	10	0.44086	T	0.13	.	19.094	0.93242	0.0:1.0:0.0:0.0	.	705;705	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	705;512	ENSP00000367075:V705I;ENSP00000439602:V512I	ENSP00000367075:V705I	V	-	1	0	KLHL1	69179832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.844000	0.69430	2.595000	0.87683	0.650000	0.86243	GTT		0.448	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		T	70281831	C	T	70281831	3	4	554	1	0	0	0	0	1	0	0	0	8367	478	17	2	141	2	KLHL1	13	70281831	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	44538008	70281831	44888047	87	29937											
DIS3	22894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	73335571	73335571	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr13:73335571T>C	ENST00000377767.4	-	19	2700	c.2600A>G	c.(2599-2601)tAt>tGt	p.Y867C	DIS3_ENST00000545453.1_Missense_Mutation_p.Y705C|DIS3_ENST00000377780.4_Missense_Mutation_p.Y837C	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	867					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.Y867C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTCTAAACCATACTTTGGAAT	0.313										Multiple Myeloma(4;0.011)																																						1	Substitution - Missense(1)	kidney(1)											100	104	103					13																	73335571		2203	4300	6503	SO:0001583	missense	22894			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2600A>G	13.37:g.73335571T>C	ENSP00000366997:p.Tyr867Cys		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354130	0.61293	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.26223	1.75;1.75;1.76	5.96	5.96	0.96718	.	0.051741	0.85682	D	0.000000	T	0.51736	0.1692	M	0.80847	2.515	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.94	T	0.56631	-0.7947	10	0.72032	D	0.01	.	11.5191	0.50541	0.1336:0.0:0.0:0.8664	.	837;867	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	C	867;837;705	ENSP00000366997:Y867C;ENSP00000367011:Y837C;ENSP00000440058:Y705C	ENSP00000366997:Y867C	Y	-	2	0	DIS3	72233572	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.899000	0.56288	2.285000	0.76669	0.533000	0.62120	TAT		0.313	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		C	73335571	T	C	73335571	3	2	554	1	0	0	0	0	1	0	0	0	4537	1406	49	3	288	3	DIS3	13	73335571	Missense_Mutation	SNP	T	TCGA-CJ-6030-01A-11D-1669-08	3053740	73335571	41834307	88	29938											
SLITRK6	84189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	86370298	86370298	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr13:86370298G>T	ENST00000400286.2	-	2	944	c.346C>A	c.(346-348)Caa>Aaa	p.Q116K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	116					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.Q116K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATATGAAGTTGTTTCAGGAGG	0.358																																																1	Substitution - Missense(1)	kidney(1)											123	114	117					13																	86370298		1838	4086	5924	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.346C>A	13.37:g.86370298G>T	ENSP00000383143:p.Gln116Lys		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	5.305	0.241696	0.10077	.	.	ENSG00000184564	ENST00000400286	T	0.50813	0.73	6.17	3.38	0.38709	.	0.172871	0.51477	N	0.000095	T	0.28532	0.0706	N	0.12182	0.205	0.35311	D	0.783898	B	0.02656	0.0	B	0.01281	0.0	T	0.22906	-1.0203	10	0.46703	T	0.11	-7.8464	10.4372	0.44443	0.0:0.1238:0.4923:0.3839	.	116	Q9H5Y7	SLIK6_HUMAN	K	116	ENSP00000383143:Q116K	ENSP00000383143:Q116K	Q	-	1	0	SLITRK6	85268299	1.000000	0.71417	0.946000	0.38457	0.838000	0.47535	2.671000	0.46842	0.900000	0.36469	0.655000	0.94253	CAA		0.358	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		T	86370298	G	T	86370298	3	4	554	1	0	0	0	0	1	0	0	0	14753	1386	48	4	2183	4	SLITRK6	13	86370298	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	13034727	86370298	28799580	89	29939											
TUBGCP3	10426	hgsc.bcm.edu;ucsc.edu	37	13	113176789	113176789	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr13:113176789delA	ENST00000261965.3	-	14	1776	c.1590delT	c.(1588-1590)tttfs	p.F530fs	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Frame_Shift_Del_p.F530fs	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	530					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TCTTCCCCTGAAATGCATTTT	0.418																																																0													107	94	98					13																	113176789		2203	4300	6503	SO:0001589	frameshift_variant	10426			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1590delT	13.37:g.113176789delA	ENSP00000261965:p.Phe530fs		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Frame_Shift_Del	DEL	ENST00000261965.3	37	CCDS9525.1																																																																																				0.418	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		-	113176789	A	-	113176789	7	5	554	1	0	1	0	1	0	0	0	0	16772	243	9	0	1169	0	TUBGCP3	13	113176789	Frame_Shift_Del	DEL	A	TCGA-CJ-6030-01A-11D-1669-08	26806491	113176789	1993089	90	29940											
RPGRIP1	57096	hgsc.bcm.edu;ucsc.edu	37	14	21796727	21796727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr14:21796727C>T	ENST00000400017.2	+	18	3040	c.3040C>T	c.(3040-3042)Caa>Taa	p.Q1014*	RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.Q1014*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Q671*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Q976*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.Q373*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Q340*	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1014					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.Q630*(1)|p.Q1014*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AATAGGTGTTCAAGGAAAGAA	0.398																																																2	Substitution - Nonsense(2)	kidney(2)											99	94	96					14																	21796727		1880	4107	5987	SO:0001587	stop_gained	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.3040C>T	14.37:g.21796727C>T	ENSP00000382895:p.Gln1014*		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	40	8.197055	0.98701	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	.	.	.	4.44	4.44	0.53790	.	0.569594	0.17982	N	0.155515	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-14.6963	12.7601	0.57359	0.0:1.0:0.0:0.0	.	.	.	.	X	671;976;1014;1014;340;489;373	.	ENSP00000206660:Q1014X	Q	+	1	0	RPGRIP1	20866567	0.979000	0.34478	0.971000	0.41717	0.623000	0.37688	3.018000	0.49625	2.478000	0.83669	0.650000	0.86243	CAA		0.398	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		T	21796727	C	T	21796727	4	4	554	1	0	0	0	0	0	1	0	0	13555	827	29	2	3110	2	RPGRIP1	14	21796727	Nonsense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08		21796727	85552813	91	29941											
SPTBN5	51332	broad.mit.edu	37	15	42175214	42175214	+	Silent	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr15:42175214C>T	ENST00000320955.6	-	9	2099	c.1872G>A	c.(1870-1872)ctG>ctA	p.L624L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	624					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.L624L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAAGAGCCACCAGGCTCTGTT	0.572																																																1	Substitution - coding silent(1)	kidney(1)											10	11	11					15																	42175214		1885	4096	5981	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1872G>A	15.37:g.42175214C>T				Silent	SNP	ENST00000320955.6	37																																																																																					0.572	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		T	42175214	C	T	42175214	2	4	554	1	0	0	0	0	0	0	0	1	15127	581	21	2		2	SPTBN5	15	42175214	Silent	SNP	C	TCGA-CJ-6030-01A-11D-1669-08		42175214	60356178	92	29942											
VPS39	23339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42480038	42480038	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr15:42480038T>A	ENST00000348544.4	-	7	391	c.392A>T	c.(391-393)gAg>gTg	p.E131V	VPS39_ENST00000318006.5_Missense_Mutation_p.E120V			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	131	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.E120V(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TAACACCTCCTCACCGGTCTC	0.433																																																1	Substitution - Missense(1)	kidney(1)											160	159	159					15																	42480038		2203	4299	6502	SO:0001583	missense	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.392A>T	15.37:g.42480038T>A	ENSP00000335193:p.Glu131Val		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.516410	0.85495	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.05447	3.44;3.44	4.95	4.95	0.65309	Citron-like (2);	0.052356	0.85682	D	0.000000	T	0.09468	0.0233	L	0.60845	1.875	0.80722	D	1	B;B	0.25521	0.071;0.128	B;B	0.24006	0.05;0.03	T	0.07462	-1.0771	10	0.37606	T	0.19	-10.8466	14.9395	0.70983	0.0:0.0:0.0:1.0	.	131;120	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	V	120;131	ENSP00000326534:E120V;ENSP00000335193:E131V	ENSP00000326534:E120V	E	-	2	0	VPS39	40267330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	1.984000	0.57885	0.533000	0.62120	GAG		0.433	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		A	42480038	T	A	42480038	3	1	554	1	0	0	0	0	1	0	0	0	17214	1551	54	5	2348	5	VPS39	15	42480038	Missense_Mutation	SNP	T	TCGA-CJ-6030-01A-11D-1669-08	304824	42480038	60051354	93	29943											
CAPN3	825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42695072	42695072	+	Silent	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr15:42695072C>T	ENST00000397163.3	+	13	1836	c.1617C>T	c.(1615-1617)aaC>aaT	p.N539N	CAPN3_ENST00000349748.3_Silent_p.N491N|CAPN3_ENST00000569136.1_5'Flank|CAPN3_ENST00000357568.3_Silent_p.N539N|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_5'Flank|CAPN3_ENST00000356316.3_Silent_p.N452N|CAPN3_ENST00000397204.4_5'Flank|CAPN3_ENST00000397200.4_Silent_p.N27N|CAPN3_ENST00000318023.7_Silent_p.N539N|CAPN3_ENST00000561817.1_5'Flank	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	539	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.N539N(1)|p.N452N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCTACATCAACATGCGGGAGG	0.612																																																2	Substitution - coding silent(2)	kidney(2)											129	102	111					15																	42695072		2203	4299	6502	SO:0001819	synonymous_variant	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1617C>T	15.37:g.42695072C>T			A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	CCDS45245.1																																																																																				0.612	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			T	42695072	C	T	42695072	2	4	554	1	0	0	0	0	0	0	0	1	2630	477	17	2		2	CAPN3	15	42695072	Silent	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	215034	42695072	59836320	94	29944											
SECISBP2L	9728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49301485	49301485	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr15:49301485G>C	ENST00000559471.1	-	14	2218	c.1955C>G	c.(1954-1956)cCt>cGt	p.P652R	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P607R	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	652							poly(A) RNA binding (GO:0044822)	p.P607R(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGAACTAGCAGGAGAGCCTTG	0.423																																																1	Substitution - Missense(1)	kidney(1)											186	164	172					15																	49301485		2197	4295	6492	SO:0001583	missense	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1955C>G	15.37:g.49301485G>C	ENSP00000453854:p.Pro652Arg		Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301906	0.81136	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74209	-0.82	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.85898	0.5804	M	0.76328	2.33	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.84410	0.0565	10	0.37606	T	0.19	.	18.7888	0.91965	0.0:0.0:1.0:0.0	.	652;607	Q93073;Q93073-2	SBP2L_HUMAN;.	R	607;652	ENSP00000261847:P607R	ENSP00000261847:P607R	P	-	2	0	SECISBP2L	47088777	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.241000	0.78201	2.757000	0.94681	0.655000	0.94253	CCT		0.423	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		C	49301485	G	C	49301485	3	2	554	1	0	0	0	0	1	0	0	0	14013	1000	35	4	1370	4	SECISBP2L	15	49301485	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	6606413	49301485	53229907	95	29945											
C15orf33	196951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49868999	49868999	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr15:49868999A>T	ENST00000299338.6	-	7	788	c.485T>A	c.(484-486)cTa>cAa	p.L162Q	FAM227B_ENST00000561064.1_Missense_Mutation_p.L162Q|FAM227B_ENST00000560246.1_3'UTR|FAM227B_ENST00000558594.1_3'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	162								p.L162Q(1)									ATGTCTGGGTAGCTGAGTAAG	0.308																																																1	Substitution - Missense(1)	kidney(1)											43	47	46					15																	49868999		2196	4294	6490	SO:0001583	missense	0				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 33"	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.485T>A	15.37:g.49868999A>T	ENSP00000299338:p.Leu162Gln		Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403813	0.62288	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.79	4.79	0.61399	.	0.000000	0.40064	N	0.001189	T	0.78084	0.4228	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80899	-0.1176	9	0.87932	D	0	-22.8854	10.882	0.46944	1.0:0.0:0.0:0.0	.	162;162	Q96M60-2;Q96M60	.;CO033_HUMAN	Q	162	.	ENSP00000299338:L162Q	L	-	2	0	C15orf33	47656291	1.000000	0.71417	0.941000	0.38009	0.775000	0.43874	4.684000	0.61686	2.131000	0.65755	0.477000	0.44152	CTA		0.308	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		T	49868999	A	T	49868999	3	4	554	1	0	0	0	0	1	0	0	0	1793	420	15	5	1081	5	C15orf33	15	49868999	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	567514	49868999	52662393	96	29946											
HEXA	3073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72645420	72645420	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr15:72645420G>T	ENST00000268097.5	-	5	1062	c.559C>A	c.(559-561)Ctg>Atg	p.L187M	HEXA_ENST00000429918.2_Intron|HEXA_ENST00000457859.2_De_novo_Start_InFrame|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.L198M|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.L187M	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	187					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.L187M(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGAGTGTCCAGGATGCTAGAG	0.478																																																1	Substitution - Missense(1)	kidney(1)											80	69	73					15																	72645420		2199	4297	6496	SO:0001583	missense	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.559C>A	15.37:g.72645420G>T	ENSP00000268097:p.Leu187Met		B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829272	0.50845	.	.	ENSG00000213614	ENST00000268097	D	0.97089	-4.24	5.59	2.68	0.31781	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.083276	0.49916	N	0.000124	D	0.95981	0.8691	M	0.75447	2.3	0.80722	D	1	B;B;P	0.39181	0.099;0.038;0.663	B;B;P	0.46026	0.378;0.322;0.501	D	0.92683	0.6160	10	0.33940	T	0.23	-7.0776	5.3613	0.16089	0.2152:0.0:0.6404:0.1444	.	198;67;187	B4DVA7;Q9BVJ8;P06865	.;.;HEXA_HUMAN	M	187	ENSP00000268097:L187M	ENSP00000268097:L187M	L	-	1	2	HEXA	70432474	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.037000	0.49775	0.700000	0.31782	0.650000	0.86243	CTG		0.478	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		T	72645420	G	T	72645420	3	4	554	1	0	0	0	0	1	0	0	0	7075	991	35	4	1070	4	HEXA	15	72645420	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	22776421	72645420	29885972	97	29947											
SYNM	23336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	99672128	99672128	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr15:99672128T>C	ENST00000336292.6	+	5	3680	c.3560T>C	c.(3559-3561)aTc>aCc	p.I1187T	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1188	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.I1187T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGAGAAGTCATCTTCCTAGGC	0.632																																					Pancreas(125;1071 1762 21750 40003 40381)											1	Substitution - Missense(1)	kidney(1)											25	27	27					15																	99672128		1998	4167	6165	SO:0001583	missense	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3560T>C	15.37:g.99672128T>C	ENSP00000336775:p.Ile1187Thr		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37		.	.	.	.	.	.	.	.	.	.	T	10.26	1.302190	0.23736	.	.	ENSG00000182253	ENST00000336292	D	0.86694	-2.16	5.27	4.16	0.48862	.	.	.	.	.	T	0.81588	0.4854	.	.	.	0.25855	N	0.9839	B	0.20052	0.041	B	0.17433	0.018	T	0.72991	-0.4123	8	0.87932	D	0	.	8.6703	0.34145	0.0:0.0857:0.0:0.9143	.	1188	O15061	SYNEM_HUMAN	T	1187	ENSP00000336775:I1187T	ENSP00000336775:I1187T	I	+	2	0	SYNM	97489651	0.010000	0.17322	0.130000	0.21974	0.034000	0.12701	1.156000	0.31712	0.856000	0.35383	0.533000	0.62120	ATC		0.632	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		C	99672128	T	C	99672128	3	2	554	1	0	0	0	0	1	0	0	0	15460	1435	50	3	3576	3	SYNM	15	99672128	Missense_Mutation	SNP	T	TCGA-CJ-6030-01A-11D-1669-08	27026708	99672128	2859264	98	29948											
ZNF764	92595	broad.mit.edu;ucsc.edu	37	16	30569111	30569111	+	Missense_Mutation	SNP	A	A	C	rs369068123		TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr16:30569111A>C	ENST00000252797.2	-	2	333	c.253T>G	c.(253-255)Tgg>Ggg	p.W85G	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Missense_Mutation_p.W85G	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W85G(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GCCGGACCCCACAGTTCGGCC	0.617																																																1	Substitution - Missense(1)	kidney(1)						A	GLY/TRP,GLY/TRP	1,4393		0,1,2196	45	39	41		253,253	3.2	0.6	16		41	0,8600		0,0,4300	no	missense,missense	ZNF764	NM_001172679.1,NM_033410.3	184,184	0,1,6496	CC,CA,AA		0.0,0.0228,0.0077	possibly-damaging,possibly-damaging	85/408,85/409	30569111	1,12993	2197	4300	6497	SO:0001583	missense	92595			BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"Zinc fingers, C2H2-type", "-"	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.253T>G	16.37:g.30569111A>C	ENSP00000252797:p.Trp85Gly		A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961268	0.53400	2.28E-4	0.0	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.09630	2.98;2.96	4.32	3.17	0.36434	Krueppel-associated box (2);	0.224808	0.23167	N	0.051172	T	0.14141	0.0342	M	0.70842	2.15	0.23879	N	0.996588	P;P	0.41673	0.596;0.759	B;B	0.40410	0.107;0.328	T	0.08289	-1.0729	10	0.51188	T	0.08	-13.1587	9.0654	0.36460	0.8139:0.1861:0.0:0.0	.	85;85	B3KSN2;Q96H86	.;ZN764_HUMAN	G	85	ENSP00000252797:W85G;ENSP00000378526:W85G	ENSP00000252797:W85G	W	-	1	0	ZNF764	30476612	0.000000	0.05858	0.604000	0.28916	0.004000	0.04260	-0.140000	0.10342	0.746000	0.32786	0.459000	0.35465	TGG		0.617	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		C	30569111	A	C	30569111	3	2	554	1	0	0	0	0	1	0	0	0	18143	159	6	5	981	5	ZNF764	16	30569111	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08		30569111	59785642	99	29949											
SRCAP	10847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30749422	30749422	+	Silent	SNP	A	A	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr16:30749422A>T	ENST00000262518.4	+	34	8446	c.8061A>T	c.(8059-8061)ccA>ccT	p.P2687P	SRCAP_ENST00000395059.2_Silent_p.P2625P|SRCAP_ENST00000344771.4_Silent_p.P2529P|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2687	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.P2687P(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCTCCAGCCCAGAGAAGCCAC	0.602																																																1	Substitution - coding silent(1)	kidney(1)											85	71	76					16																	30749422		2197	4300	6497	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8061A>T	16.37:g.30749422A>T			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		T	30749422	A	T	30749422	2	4	554	1	0	0	0	0	0	0	0	1	15140	175	7	5		5	SRCAP	16	30749422	Silent	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	180311	30749422	59605331	100	29950											
IKZF3	22806	broad.mit.edu;hgsc.bcm.edu	37	17	37922736	37922737	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr17:37922736_37922737GC>TG	ENST00000346872.3	-	8	897_898	c.836_837GC>CA	c.(835-837)cGC>cCA	p.R279P	RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000439167.2_Missense_Mutation_p.R206P|IKZF3_ENST00000350532.3_Missense_Mutation_p.R240P|IKZF3_ENST00000351680.3_Missense_Mutation_p.R240P|IKZF3_ENST00000377958.2_Missense_Mutation_p.R192P|IKZF3_ENST00000394189.2_Missense_Mutation_p.R97P|IKZF3_ENST00000583368.1_Missense_Mutation_p.R32P|IKZF3_ENST00000439016.2_Missense_Mutation_p.R184P|IKZF3_ENST00000346243.3_Missense_Mutation_p.R201P|IKZF3_ENST00000377945.3_Missense_Mutation_p.R145P|IKZF3_ENST00000467757.1_Missense_Mutation_p.R223P|IKZF3_ENST00000535189.1_Missense_Mutation_p.R245P|IKZF3_ENST00000377952.2_Missense_Mutation_p.R58P|IKZF3_ENST00000377944.3_Missense_Mutation_p.R136P	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	279					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R279P(2)|p.R279R(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAAAGCAGTGGCGCTTCTCACC	0.436																																																4	Substitution - Missense(2)|Substitution - coding silent(2)	kidney(3)|endometrium(1)																																								SO:0001583	missense	22806			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.836_837delinsTG	17.37:g.37922736_37922737delinsTG	ENSP00000344544:p.Arg279Pro		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent|Missense_Mutation	SNP	ENST00000346872.3	37	CCDS11346.1																																																																																				0.436	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		TG	37922737	GC	TG	37922736	3	4	554	1	0	0	0	0	1	0	0	0	7618	1190	42	4	696	4	IKZF3	17	37922736	Missense_Mutation	DNP	GC	TCGA-CJ-6030-01A-11D-1669-08		37922736	43272474	101	29951											
NFE2L1	4779	broad.mit.edu;ucsc.edu	37	17	46135813	46135813	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr17:46135813C>G	ENST00000362042.3	+	6	1745	c.1129C>G	c.(1129-1131)Ctc>Gtc	p.L377V	RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000536222.1_Missense_Mutation_p.L221V|NFE2L1_ENST00000582155.1_Missense_Mutation_p.L189V|NFE2L1_ENST00000361665.3_Missense_Mutation_p.L366V|NFE2L1_ENST00000583378.1_Missense_Mutation_p.L178V|NFE2L1_ENST00000585291.1_Missense_Mutation_p.L347V|NFE2L1_ENST00000357480.5_Missense_Mutation_p.L347V	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	377					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.L377V(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGACTTCTTACTCTTCAGCCC	0.612																																																1	Substitution - Missense(1)	kidney(1)											94	97	96					17																	46135813		2203	4300	6503	SO:0001583	missense	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1129C>G	17.37:g.46135813C>G	ENSP00000354855:p.Leu377Val		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	C	8.577	0.881409	0.17467	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;D;D	0.95885	2.96;-3.84;-3.84	5.65	5.65	0.86999	.	0.419839	0.26149	N	0.026049	D	0.93360	0.7883	L	0.50333	1.59	0.49582	D	0.999809	B;B;B;B	0.30870	0.251;0.214;0.208;0.298	B;B;B;B	0.29267	0.1;0.031;0.038;0.065	D	0.91207	0.4996	10	0.26408	T	0.33	-39.9864	18.4922	0.90852	0.0:1.0:0.0:0.0	.	221;189;347;377	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	V	396;377;347;221	ENSP00000354855:L396V;ENSP00000350072:L347V;ENSP00000445811:L221V	ENSP00000350072:L347V	L	+	1	0	NFE2L1	43490812	0.969000	0.33509	0.963000	0.40424	0.984000	0.73092	2.131000	0.42074	2.661000	0.90470	0.655000	0.94253	CTC		0.612	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		G	46135813	C	G	46135813	3	3	554	1	0	0	0	0	1	0	0	0	10369	565	20	4	1147	4	NFE2L1	17	46135813	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	8213077	46135813	35059397	102	29952											
MED13	9969	hgsc.bcm.edu;ucsc.edu	37	17	60059957	60059957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr17:60059957delT	ENST00000397786.2	-	16	3483	c.3407delA	c.(3406-3408)aacfs	p.N1137fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1137					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTGAATTGTTTCCAAATTT	0.423																																																0													150	137	141					17																	60059957		1896	4109	6005	SO:0001589	frameshift_variant	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3407delA	17.37:g.60059957delT	ENSP00000380888:p.Asn1137fs		B2RU05|O60334	Frame_Shift_Del	DEL	ENST00000397786.2	37	CCDS42366.1																																																																																				0.423	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		-	60059957	T	-	60059957	7	5	554	1	0	1	0	1	0	0	0	0	9432	1725	60	0	3177	0	MED13	17	60059957	Frame_Shift_Del	DEL	T	TCGA-CJ-6030-01A-11D-1669-08	13924144	60059957	21135253	103	29953											
NPTX1	4884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78445540	78445540	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr17:78445540G>T	ENST00000306773.4	-	4	1226	c.1069C>A	c.(1069-1071)Cag>Aag	p.Q357K	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	357	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.Q357K(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ACCTGCTCCTGGCCCAGCACC	0.657																																																1	Substitution - Missense(1)	kidney(1)											45	38	41					17																	78445540		2203	4299	6502	SO:0001583	missense	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.1069C>A	17.37:g.78445540G>T	ENSP00000307549:p.Gln357Lys		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238452	0.95240	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.12465	2.68	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	M	0.93420	3.415	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.63102	-0.6712	10	0.66056	D	0.02	-23.3103	18.1318	0.89604	0.0:0.0:1.0:0.0	.	357	Q15818	NPTX1_HUMAN	K	357;119	ENSP00000307549:Q357K	ENSP00000307549:Q357K	Q	-	1	0	NPTX1	76060135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.566000	0.98157	2.607000	0.88179	0.561000	0.74099	CAG		0.657	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			T	78445540	G	T	78445540	3	4	554	1	0	0	0	0	1	0	0	0	10604	1357	47	4	237	4	NPTX1	17	78445540	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	18385583	78445540	2749670	104	29954											
NARF	26502	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80443460	80443460	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr17:80443460G>T	ENST00000309794.11	+	10	1257	c.1059G>T	c.(1057-1059)caG>caT	p.Q353H	NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000345415.7_Missense_Mutation_p.Q305H|NARF_ENST00000390006.4_Missense_Mutation_p.Q294H|NARF_ENST00000457415.3_Missense_Mutation_p.Q399H	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	353						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.Q399H(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAAACATCCAGAACATGATCC	0.512																																																1	Substitution - Missense(1)	kidney(1)											147	129	135					17																	80443460		2203	4300	6503	SO:0001583	missense	26502			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1059G>T	17.37:g.80443460G>T	ENSP00000309899:p.Gln353His		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	13.45	2.241722	0.39598	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.48836	0.8;0.8;0.8	5.32	5.32	0.75619	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.051387	0.85682	D	0.000000	T	0.70325	0.3211	M	0.88105	2.93	0.80722	D	1	D;P;D;D	0.63046	0.983;0.838;0.986;0.992	D;P;D;D	0.67900	0.923;0.828;0.954;0.933	T	0.75277	-0.3374	10	0.62326	D	0.03	-17.0481	11.3919	0.49820	0.0923:0.0:0.9077:0.0	.	399;305;400;353	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	H	294;400;353;305	ENSP00000374656:Q294H;ENSP00000309899:Q353H;ENSP00000283996:Q305H	ENSP00000309899:Q353H	Q	+	3	2	NARF	78036749	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.998000	0.63927	2.480000	0.83734	0.561000	0.74099	CAG		0.512	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		T	80443460	G	T	80443460	3	4	554	1	0	0	0	0	1	0	0	0	10169	933	33	4	1239	4	NARF	17	80443460	Missense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	1997920	80443460	751750	105	29955											
ABCA7	10347	broad.mit.edu	37	19	1056479	1056479	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr19:1056479C>A	ENST00000263094.6	+	33	4798	c.4567C>A	c.(4567-4569)Cag>Aag	p.Q1523K	ABCA7_ENST00000435683.2_Missense_Mutation_p.Q1385K|ABCA7_ENST00000433129.1_Missense_Mutation_p.Q1523K	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1523					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.Q1523K(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAAGGAGCAGCTGTCTGA	0.632																																																1	Substitution - Missense(1)	kidney(1)											141	113	122					19																	1056479		2203	4300	6503	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4567C>A	19.37:g.1056479C>A	ENSP00000263094:p.Gln1523Lys		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472685	0.63737	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.87029	-2.2;-2.2	3.66	3.66	0.41972	.	.	.	.	.	D	0.92473	0.7610	M	0.87827	2.91	0.43152	D	0.994927	P	0.50819	0.939	P	0.56960	0.81	D	0.94028	0.7298	9	0.72032	D	0.01	.	14.055	0.64761	0.0:1.0:0.0:0.0	.	1523	Q8IZY2	ABCA7_HUMAN	K	1523	ENSP00000263094:Q1523K;ENSP00000414062:Q1523K	ENSP00000263094:Q1523K	Q	+	1	0	ABCA7	1007479	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	5.753000	0.68736	1.889000	0.54706	0.555000	0.69702	CAG		0.632	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1056479	C	A	1056479	3	1	554	1	0	0	0	0	1	0	0	0	37	711	25	4	4693	4	ABCA7	19	1056479	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08		1056479	58072504	106	29956											
CELF5	60680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3281241	3281241	+	Silent	SNP	G	G	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr19:3281241G>A	ENST00000292672.2	+	6	685	c.648G>A	c.(646-648)aaG>aaA	p.K216K	CELF5_ENST00000541430.2_Silent_p.K216K	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	216					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K216K(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						ACACGGACAAGGAGCGGACGC	0.677																																																1	Substitution - coding silent(1)	kidney(1)											84	77	80					19																	3281241		2203	4300	6503	SO:0001819	synonymous_variant	60680			AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.648G>A	19.37:g.3281241G>A			D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	CCDS12106.1																																																																																				0.677	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		A	3281241	G	A	3281241	2	1	554	1	0	0	0	0	0	0	0	1	3221	991	35	2		2	CELF5	19	3281241	Silent	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	2224762	3281241	55847742	107	29957											
FBN3	84467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8194141	8194141	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr19:8194141G>C	ENST00000600128.1	-	17	2567	c.2153C>G	c.(2152-2154)tCa>tGa	p.S718*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.S718*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.S718*			Q75N90	FBN3_HUMAN	fibrillin 3	718	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S718*(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTCCTTGCCTGAGGCACCTGC	0.637																																																1	Substitution - Nonsense(1)	kidney(1)											49	46	47					19																	8194141		2203	4300	6503	SO:0001587	stop_gained	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2153C>G	19.37:g.8194141G>C	ENSP00000470498:p.Ser718*		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Nonsense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	39	7.739938	0.98462	.	.	ENSG00000142449	ENST00000270509	.	.	.	4.4	-0.631	0.11526	.	0.561572	0.17527	U	0.171028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	3.6922	0.08350	0.0769:0.2647:0.3864:0.272	.	.	.	.	X	718	.	ENSP00000270509:S718X	S	-	2	0	FBN3	8100141	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.141000	0.31528	-0.282000	0.09128	-0.399000	0.06403	TCA		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		C	8194141	G	C	8194141	4	2	554	1	0	0	0	0	0	1	0	0	5706	1294	45	4	6468	4	FBN3	19	8194141	Nonsense_Mutation	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	4912900	8194141	50934842	108	29958											
DMKN	93099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36003325	36003325	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr19:36003325C>T	ENST00000339686.3	-	3	858	c.682G>A	c.(682-684)Ggg>Agg	p.G228R	DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.G228R|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.G228R|DMKN_ENST00000447113.2_Missense_Mutation_p.G228R|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.G228R|DMKN_ENST00000424570.2_Missense_Mutation_p.G228R|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.G228R|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000429837.1_Missense_Mutation_p.G228R	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	228	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G228R(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTCTTACCCCTTCATTCTGG	0.567																																																2	Substitution - Missense(2)	kidney(2)											45	49	47					19																	36003325		2203	4300	6503	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.682G>A	19.37:g.36003325C>T	ENSP00000342012:p.Gly228Arg		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443879	0.43429	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.91	4.91	0.64330	.	0.377447	0.19368	N	0.115967	T	0.58595	0.2133	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D	0.63046	0.992;0.992;0.992;0.992;0.979;0.979;0.979	D;P;D;D;P;P;P	0.63381	0.914;0.886;0.914;0.914;0.816;0.816;0.816	T	0.60141	-0.7321	10	0.66056	D	0.02	-1.0907	13.4834	0.61351	0.0:1.0:0.0:0.0	.	228;228;228;228;228;228;228	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	R	228	ENSP00000342012:G228R;ENSP00000405503:G228R;ENSP00000391036:G228R;ENSP00000394908:G228R;ENSP00000415277:G228R;ENSP00000414743:G228R;ENSP00000388404:G228R;ENSP00000409513:G228R	ENSP00000342012:G228R	G	-	1	0	DMKN	40695165	0.676000	0.27567	0.613000	0.29037	0.089000	0.18198	1.960000	0.40422	2.536000	0.85505	0.655000	0.94253	GGG		0.567	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36003325	C	T	36003325	3	4	554	1	0	0	0	0	1	0	0	0	4584	681	24	2	1121	2	DMKN	19	36003325	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	27809184	36003325	23125658	109	29959											
YIF1B	90522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38798068	38798068	+	Splice_Site	SNP	C	C	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr19:38798068C>A	ENST00000339413.6	-	7	834	c.789G>T	c.(787-789)atG>atT	p.M263I	YIF1B_ENST00000587361.1_5'Flank|YIF1B_ENST00000392124.3_Splice_Site_p.M232I|YIF1B_ENST00000591784.1_Splice_Site_p.M232I|YIF1B_ENST00000329420.8_Splice_Site_p.M248I|YIF1B_ENST00000592694.1_Splice_Site_p.M232I|YIF1B_ENST00000591755.1_Splice_Site_p.M260I|YIF1B_ENST00000592246.1_Splice_Site_p.M197I|YIF1B_ENST00000337679.8_Splice_Site_p.M260I	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	263						integral component of membrane (GO:0016021)		p.M263I(1)|p.M260I(1)|p.M232I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCAGCTCACCATGAACACAA	0.622																																																3	Substitution - Missense(3)	kidney(3)											76	66	70					19																	38798068		2203	4299	6502	SO:0001630	splice_region_variant	90522			AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.789+1G>T	19.37:g.38798068C>A			H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP	ENST00000339413.6	37	CCDS33010.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913926	0.33815	.	.	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000392124;ENST00000337679	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.66	5.66	0.87406	.	0.085246	0.85682	D	0.000000	T	0.70395	0.3219	N	0.17564	0.495	0.58432	D	0.999998	B;B;B;P;B	0.39576	0.372;0.041;0.063;0.679;0.003	B;B;B;B;B	0.40066	0.121;0.032;0.022;0.318;0.01	T	0.69202	-0.5207	9	.	.	.	-18.4322	17.2371	0.87002	0.0:1.0:0.0:0.0	.	232;260;260;263;260	Q5BJH7-2;Q5BJH7-5;Q5BJH7-4;Q5BJH7;Q5BJH7-3	.;.;.;YIF1B_HUMAN;.	I	263;248;232;260	ENSP00000343435:M263I;ENSP00000329559:M248I;ENSP00000375971:M232I;ENSP00000337411:M260I	.	M	-	3	0	YIF1B	43489908	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.351000	0.52232	2.662000	0.90505	0.555000	0.69702	ATG		0.622	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557	Missense_Mutation	A	38798068	C	A	38798068	5	1	554	1	0	0	0	0	0	0	1	0	17481	608	21	4	244	4	YIF1B	19	38798068	Splice_Site	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	2794743	38798068	20330915	110	29960											
CYP2F1	1572	broad.mit.edu	37	19	41627951	41627951	+	Silent	SNP	C	C	T	rs139489388		TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr19:41627951C>T	ENST00000331105.2	+	6	807	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	245					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.I245I(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GAGACCTCATCGCCCACAGCG	0.602																																																1	Substitution - coding silent(1)	kidney(1)						C		1,4403		0,1,2201	48	47	47		735	-0.5	0.2	19	dbSNP_134	47	0,8590		0,0,4295	no	coding-synonymous	CYP2F1	NM_000774.3		0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		245/492	41627951	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.735C>T	19.37:g.41627951C>T			A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	CCDS12572.1																																																																																				0.602	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			T	41627951	C	T	41627951	2	4	554	1	0	0	0	0	0	0	0	1	4173	874	31	1		1	CYP2F1	19	41627951	Silent	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	2829883	41627951	17501032	111	29961											
LYPD3	27076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	43967403	43967403	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr19:43967403C>T	ENST00000244333.3	-	4	507	c.419G>A	c.(418-420)tGc>tAc	p.C140Y		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	140	UPAR/Ly6 2.				cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.C140Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACAGCTGTAGCACTCCACGCC	0.622																																																1	Substitution - Missense(1)	kidney(1)											62	56	58					19																	43967403		2203	4300	6503	SO:0001583	missense	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.419G>A	19.37:g.43967403C>T	ENSP00000244333:p.Cys140Tyr		Q9UJ74	Missense_Mutation	SNP	ENST00000244333.3	37	CCDS12620.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632365	0.87660	.	.	ENSG00000124466	ENST00000244333	D	0.99677	-6.37	4.83	4.83	0.62350	CD59 antigen (1);	0.387355	0.25135	N	0.032873	D	0.99492	0.9819	L	0.54323	1.7	0.40954	D	0.984564	D	0.89917	1.0	D	0.87578	0.998	D	0.98107	1.0418	10	0.87932	D	0	.	13.8446	0.63459	0.0:1.0:0.0:0.0	.	140	O95274	LYPD3_HUMAN	Y	140	ENSP00000244333:C140Y	ENSP00000244333:C140Y	C	-	2	0	LYPD3	48659243	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.573000	0.53856	2.432000	0.82394	0.456000	0.33151	TGC		0.622	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		T	43967403	C	T	43967403	3	4	554	1	0	0	0	0	1	0	0	0	9113	710	25	2	629	2	LYPD3	19	43967403	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	2339452	43967403	15161580	112	29962											
ZNF404	342908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44376785	44376785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr19:44376785delT	ENST00000587539.1	-	3	1580	c.1581delA	c.(1579-1581)gaafs	p.E527fs	ZNF404_ENST00000324394.6_Frame_Shift_Del_p.E525fs	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CCTTACCACATTCTTTGCATT	0.388																																																0													59	62	61					19																	44376785		2127	4264	6391	SO:0001589	frameshift_variant	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1581delA	19.37:g.44376785delT	ENSP00000466051:p.Glu527fs		A4FU30|K7ELF2	Frame_Shift_Del	DEL	ENST00000587539.1	37	CCDS59394.1																																																																																				0.388	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		-	44376785	T	-	44376785	7	5	554	1	0	1	0	1	0	0	0	0	17891	1490	52	0	81	0	ZNF404	19	44376785	Frame_Shift_Del	DEL	T	TCGA-CJ-6030-01A-11D-1669-08	409382	44376785	14752198	113	29963											
PANK2	80025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3897581	3897581	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr20:3897581A>C	ENST00000316562.4	+	5	1426	c.1420A>C	c.(1420-1422)Aac>Cac	p.N474H	MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000497424.1_Missense_Mutation_p.N183H|PANK2_ENST00000610179.1_Missense_Mutation_p.N351H	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	474					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.N474H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAGCTTTGGAAACATGATGAG	0.413																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CD060643	PANK2	D							84	72	76					20																	3897581		2203	4300	6503	SO:0001583	missense	80025			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1420A>C	20.37:g.3897581A>C	ENSP00000313377:p.Asn474His		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479619	0.44044	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.99503	-6.03;-6.03	5.21	5.21	0.72293	.	0.045781	0.85682	D	0.000000	D	0.98289	0.9433	L	0.41824	1.3	0.41185	D	0.98626	B	0.18310	0.027	B	0.32624	0.149	D	0.97566	1.0101	10	0.59425	D	0.04	.	13.0859	0.59140	1.0:0.0:0.0:0.0	.	474	Q9BZ23	PANK2_HUMAN	H	183;474;290	ENSP00000417609:N183H;ENSP00000313377:N474H	ENSP00000313377:N474H	N	+	1	0	PANK2	3845581	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	3.109000	0.50345	2.191000	0.70037	0.533000	0.62120	AAC		0.413	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		C	3897581	A	C	3897581	3	2	554	1	0	0	0	0	1	0	0	0	11419	14	1	5	1438	5	PANK2	20	3897581	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08		3897581	59127939	114	29964											
RBM39	9584	hgsc.bcm.edu;ucsc.edu	37	20	34309720	34309720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr20:34309720delG	ENST00000253363.6	-	9	790	c.767delC	c.(766-768)tcafs	p.S256fs	RBM39_ENST00000361162.6_Frame_Shift_Del_p.S256fs|RBM39_ENST00000407261.4_Frame_Shift_Del_p.S99fs|RBM39_ENST00000528062.3_Frame_Shift_Del_p.S234fs			Q14498	RBM39_HUMAN	RNA binding motif protein 39	256	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GAAGTGTAATGAGCCCACATA	0.408																																																0													177	154	162					20																	34309720		2203	4300	6503	SO:0001589	frameshift_variant	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.767delC	20.37:g.34309720delG	ENSP00000253363:p.Ser256fs		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Frame_Shift_Del	DEL	ENST00000253363.6	37	CCDS13266.1																																																																																				0.408	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		-	34309720	G	-	34309720	7	5	554	1	0	1	0	1	0	0	0	0	13139	1294	45	0	861	0	RBM39	20	34309720	Frame_Shift_Del	DEL	G	TCGA-CJ-6030-01A-11D-1669-08	30412139	34309720	28715800	115	29965											
CTCFL	140690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	56090853	56090853	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr20:56090853C>T	ENST00000608263.1	-	5	1758	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	CTCFL_ENST00000433949.3_Missense_Mutation_p.G161E|CTCFL_ENST00000539382.1_Missense_Mutation_p.G161E|CTCFL_ENST00000609232.1_Missense_Mutation_p.G366E|CTCFL_ENST00000423479.3_Missense_Mutation_p.G366E|CTCFL_ENST00000502686.2_Missense_Mutation_p.G104E|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000608425.1_Missense_Mutation_p.G366E|CTCFL_ENST00000371196.2_Missense_Mutation_p.G366E|CTCFL_ENST00000608440.1_Missense_Mutation_p.G366E|CTCFL_ENST00000429804.3_Missense_Mutation_p.G366E|CTCFL_ENST00000608903.1_Missense_Mutation_p.G104E|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.G366E|CTCFL_ENST00000422869.2_Missense_Mutation_p.G366E	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	366					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.G366E(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGGGCGCTCCCCAGTGTGGGA	0.468																																																1	Substitution - Missense(1)	kidney(1)											160	153	156					20																	56090853		2203	4300	6503	SO:0001583	missense	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1097G>A	20.37:g.56090853C>T	ENSP00000476783:p.Gly366Glu		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482639	0.84747	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.24	5.24	0.73138	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000377	T	0.47377	0.1442	L	0.49571	1.57	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.39881	-0.9592	10	0.62326	D	0.03	-48.5072	17.9608	0.89084	0.0:1.0:0.0:0.0	.	366;366;366;366;366	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	E	366;366;366;366;366;104;366;366;161;366	ENSP00000415579:G366E;ENSP00000243914:G366E;ENSP00000360239:G366E;ENSP00000415329:G366E;ENSP00000392034:G366E;ENSP00000437999:G104E;ENSP00000413713:G366E;ENSP00000403369:G366E;ENSP00000439998:G161E;ENSP00000399061:G366E	ENSP00000243914:G366E	G	-	2	0	CTCFL	55524259	1.000000	0.71417	0.701000	0.30321	0.493000	0.33554	7.493000	0.81493	2.608000	0.88229	0.650000	0.86243	GGG		0.468	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		T	56090853	C	T	56090853	3	4	554	1	0	0	0	0	1	0	0	0	4003	623	22	2	918	2	CTCFL	20	56090853	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08	21781133	56090853	6934667	116	29966											
MORC3	23515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37721695	37721695	+	Silent	SNP	T	T	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr21:37721695T>C	ENST00000400485.1	+	9	1168	c.1092T>C	c.(1090-1092)acT>acC	p.T364T	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	364					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.T364T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TCGACTATACTAATGAGTACA	0.333																																																1	Substitution - coding silent(1)	kidney(1)											74	71	72					21																	37721695		1816	4068	5884	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1092T>C	21.37:g.37721695T>C			A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	37	CCDS42924.1																																																																																				0.333	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		C	37721695	T	C	37721695	2	2	554	1	0	0	0	0	0	0	0	1	9705	1509	53	3		3	MORC3	21	37721695	Silent	SNP	T	TCGA-CJ-6030-01A-11D-1669-08		37721695	10408200	117	29967											
SMARCB1	6598	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24143192	24143192	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr22:24143192T>A	ENST00000263121.7	+	4	620	c.424T>A	c.(424-426)Tta>Ata	p.L142I	SMARCB1_ENST00000407082.3_Intron|SMARCB1_ENST00000407422.3_Missense_Mutation_p.L133I|SMARCB1_ENST00000344921.6_Missense_Mutation_p.L133I	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	142	DNA-binding. {ECO:0000255}.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(5)|p.L142I(1)|p.L133I(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTCCCACCACTTAGATGCCGT	0.557			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	7	Deletion - Frameshift(3)|Substitution - Missense(2)|Unknown(2)	soft_tissue(5)|kidney(2)											201	144	164					22																	24143192		2203	4300	6503	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.424T>A	22.37:g.24143192T>A	ENSP00000263121:p.Leu142Ile		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539337	0.85917	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.02	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.999;0.994;0.999;0.998;0.982	D;D;D;D;D;D	0.87578	0.996;0.998;0.96;0.931;0.931;0.952	D	0.96498	0.9369	10	0.51188	T	0.08	-16.1584	13.233	0.59955	0.0:0.9225:0.0:0.0775	.	133;142;133;133;142;142	B4E117;B4DRT1;G5E975;Q17S11;Q12824;C9JTA6	.;.;.;.;SNF5_HUMAN;.	I	142;133;142;133	ENSP00000388489:L142I;ENSP00000340883:L133I;ENSP00000263121:L142I;ENSP00000383984:L133I	ENSP00000263121:L142I	L	+	1	2	SMARCB1	22473192	0.999000	0.42202	0.986000	0.45419	0.927000	0.56198	4.066000	0.57520	1.283000	0.44513	-0.154000	0.13518	TTA		0.557	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		A	24143192	T	A	24143192	3	1	554	1	0	0	0	0	1	0	0	0	14780	1606	56	5	438	5	SMARCB1	22	24143192	Missense_Mutation	SNP	T	TCGA-CJ-6030-01A-11D-1669-08		24143192	27161374	118	29968											
SEC14L3	266629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30856107	30856107	+	Silent	SNP	G	G	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr22:30856107G>T	ENST00000215812.4	-	12	1194	c.1104C>A	c.(1102-1104)acC>acA	p.T368T	SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000539629.1_Silent_p.T309T|SEC14L3_ENST00000402286.1_Silent_p.T291T|SEC14L3_ENST00000540910.1_Silent_p.T291T|SEC14L3_ENST00000401751.1_Silent_p.T309T|SEC14L3_ENST00000415957.2_Intron	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	368	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.T368T(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CAAAGCTATAGGTGTTGTCGA	0.542																																					Esophageal Squamous(108;290 1516 3584 23771 37333)											1	Substitution - coding silent(1)	kidney(1)											129	110	117					22																	30856107		2203	4300	6503	SO:0001819	synonymous_variant	266629			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1104C>A	22.37:g.30856107G>T			E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000215812.4	37	CCDS13877.1																																																																																				0.542	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		T	30856107	G	T	30856107	2	4	554	1	0	0	0	0	0	0	0	1	13989	987	35	4		4	SEC14L3	22	30856107	Silent	SNP	G	TCGA-CJ-6030-01A-11D-1669-08	6712915	30856107	20448459	119	29969											
MCM5	4174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	35815920	35815920	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr22:35815920A>C	ENST00000216122.4	+	14	1901	c.1747A>C	c.(1747-1749)Aag>Cag	p.K583Q	MCM5_ENST00000382011.5_Missense_Mutation_p.K540Q	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	583					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.K583Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGAGAAACTGAAGAACCGCTA	0.642																																																1	Substitution - Missense(1)	kidney(1)											61	64	63					22																	35815920		2203	4300	6503	SO:0001583	missense	4174				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1747A>C	22.37:g.35815920A>C	ENSP00000216122:p.Lys583Gln		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868935	0.32977	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.11169	2.8;2.8	4.93	3.88	0.44766	.	0.048715	0.85682	D	0.000000	T	0.08935	0.0221	N	0.20845	0.615	0.80722	D	1	B;B;B;B	0.27700	0.186;0.186;0.186;0.186	B;B;B;B	0.36186	0.219;0.219;0.219;0.219	T	0.31251	-0.9950	10	0.21014	T	0.42	-32.8051	11.9057	0.52711	0.8541:0.1459:0.0:0.0	.	583;583;540;583	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	Q	583;540	ENSP00000216122:K583Q;ENSP00000371441:K540Q	ENSP00000216122:K583Q	K	+	1	0	MCM5	34145920	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	8.036000	0.88901	0.885000	0.36088	-0.491000	0.04670	AAG		0.642	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			C	35815920	A	C	35815920	3	2	554	1	0	0	0	0	1	0	0	0	9392	247	9	5	1797	5	MCM5	22	35815920	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	4959813	35815920	15488646	120	29970											
EP300	2033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	41572994	41572994	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chr22:41572994A>G	ENST00000263253.7	+	31	6498	c.5279A>G	c.(5278-5280)aAg>aGg	p.K1760R	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1760	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.K1760R(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCTGCCAGAAGATGAAGCGG	0.577			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	1	Substitution - Missense(1)	kidney(1)											90	74	79					22																	41572994		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5279A>G	22.37:g.41572994A>G	ENSP00000263253:p.Lys1760Arg		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.401190	0.62288	.	.	ENSG00000100393	ENST00000263253	D	0.82984	-1.67	5.75	5.75	0.90469	Zinc finger, TAZ-type (5);	0.000000	0.50627	D	0.000107	D	0.88654	0.6495	L	0.49126	1.545	0.49687	D	0.999816	D	0.69078	0.997	D	0.80764	0.994	D	0.88893	0.3347	10	0.52906	T	0.07	-12.2442	16.0573	0.80814	1.0:0.0:0.0:0.0	.	1760	Q09472	EP300_HUMAN	R	1760	ENSP00000263253:K1760R	ENSP00000263253:K1760R	K	+	2	0	EP300	39902940	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.334000	0.96470	2.191000	0.70037	0.528000	0.53228	AAG		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		G	41572994	A	G	41572994	3	3	554	1	0	0	0	0	1	0	0	0	5150	72	3	3	5401	3	EP300	22	41572994	Missense_Mutation	SNP	A	TCGA-CJ-6030-01A-11D-1669-08	5757074	41572994	9731572	121	29971											
NAA10	8260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153196257	153196257	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chrX:153196257C>T	ENST00000464845.1	-	7	748	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	NAA10_ENST00000393712.3_Missense_Mutation_p.A144T|NAA10_ENST00000393710.3_5'Flank|NAA10_ENST00000370015.4_Missense_Mutation_p.A144T|NAA10_ENST00000370009.1_Missense_Mutation_p.A129T	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	144	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)	p.A144T(1)		breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						ATGGCATAGGCGTCCTCCCCA	0.612																																					Ovarian(94;1099 1433 38814 45882 51063)											1	Substitution - Missense(1)	kidney(1)											174	143	154					X																	153196257		2203	4300	6503	SO:0001583	missense	8260			BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"N(alpha)-acetyltransferase subunits"	18704	protein-coding gene	gene with protein product		300013	"ARD1 homolog, N-acetyltransferase (S. cerevisiae)", "ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.430G>A	X.37:g.153196257C>T	ENSP00000417763:p.Ala144Thr		A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330898	0.60853	.	.	ENSG00000102030	ENST00000464845;ENST00000370015;ENST00000393712;ENST00000370009;ENST00000370011;ENST00000432089	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	4.41	3.55	0.40652	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.84156	0.5410	H	0.99900	4.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.87510	0.2439	10	0.87932	D	0	-40.4821	10.3479	0.43916	0.0:0.8989:0.0:0.1011	.	129;144	A6NM98;P41227	.;NAA10_HUMAN	T	144;144;144;129;123;138	ENSP00000417763:A144T;ENSP00000359032:A144T;ENSP00000377315:A144T;ENSP00000359026:A129T;ENSP00000359028:A123T;ENSP00000413668:A138T	ENSP00000359026:A129T	A	-	1	0	NAA10	152849451	0.995000	0.38212	0.280000	0.24747	0.148000	0.21650	7.173000	0.77612	0.862000	0.35528	0.509000	0.49947	GCC		0.612	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		T	153196257	C	T	153196257	3	4	554	1	0	0	0	0	1	0	0	0	10118	768	27	1	285	1	NAA10	23	153196257	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08		153196257	2074303	122	29972											
KDM5D	8284	broad.mit.edu;ucsc.edu	37	Y	21903350	21903350	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6030-01A-11D-1669-08	TCGA-CJ-6030-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c904299c-09a8-4a4c-9378-2fee0ac4cd33	ac520dbf-14be-4783-a879-412bed97580c	g.chrY:21903350C>T	ENST00000317961.4	-	5	647	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	KDM5D_ENST00000541639.1_Missense_Mutation_p.E126K|KDM5D_ENST00000382806.2_Intron	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	126	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E126K(1)		kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CAGATGGCTTCATAGCCACCT	0.478																																																1	Substitution - Missense(1)	kidney(1)											50	55	54					Y																	21903350		586	1914	2500	SO:0001583	missense	8284			U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11115	protein-coding gene	gene with protein product		426000	"Jumonji, AT rich interactive domain 1D (RBP2-like)", "Smcy homolog, Y-linked (mouse)", "jumonji, AT rich interactive domain 1D"	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.376G>A	Y.37:g.21903350C>T	ENSP00000322408:p.Glu126Lys		A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	CCDS14794.1																																																																																				0.478	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		T	21903350	C	T	21903350	3	4	554	1	0	0	0	0	1	0	0	0	8138	835	29	2	4432	2	KDM5D	24	21903350	Missense_Mutation	SNP	C	TCGA-CJ-6030-01A-11D-1669-08		21903350	37470216	123	29973											
CHD5	26038	broad.mit.edu;ucsc.edu	37	1	6208965	6208965	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr1:6208965G>T	ENST00000262450.3	-	9	1431	c.1332C>A	c.(1330-1332)aaC>aaA	p.N444K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.N444K(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCAGCGGCGGGTTGAGGCAAT	0.692																																																1	Substitution - Missense(1)	kidney(1)											50	55	53					1																	6208965		2199	4297	6496	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1332C>A	1.37:g.6208965G>T	ENSP00000262450:p.Asn444Lys		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594963	0.66219	.	.	ENSG00000116254	ENST00000262450	T	0.21734	1.99	3.56	3.56	0.40772	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Chromo domain-like (1);	0.000000	0.64402	U	0.000001	T	0.37571	0.1008	L	0.43701	1.375	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.23048	-1.0199	10	0.54805	T	0.06	-32.8825	15.1444	0.72637	0.0:0.0:1.0:0.0	.	444	Q8TDI0	CHD5_HUMAN	K	444	ENSP00000262450:N444K	ENSP00000262450:N444K	N	-	3	2	CHD5	6131552	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	3.348000	0.52209	1.725000	0.51514	0.313000	0.20887	AAC		0.692	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		T	6208965	G	T	6208965	3	4	555	1	0	0	0	0	1	0	0	0	3330	1252	44	4	4664	4	CHD5	1	6208965	Missense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08		6208965	243041656	1	29974											
FBXO42	54455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16583146	16583146	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr1:16583146T>G	ENST00000375592.3	-	5	827	c.611A>C	c.(610-612)gAg>gCg	p.E204A		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	204								p.E204A(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AAAGAATCTCTCTGGCTGGTG	0.463																																																1	Substitution - Missense(1)	kidney(1)											95	90	92					1																	16583146		2203	4300	6503	SO:0001583	missense	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.611A>C	1.37:g.16583146T>G	ENSP00000364742:p.Glu204Ala		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759407	0.69763	.	.	ENSG00000037637	ENST00000375592	T	0.66460	-0.21	5.94	5.94	0.96194	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.49133	0.1539	N	0.14661	0.345	0.80722	D	1	B	0.24882	0.113	B	0.25291	0.059	T	0.47368	-0.9123	10	0.10902	T	0.67	-22.9282	15.5763	0.76392	0.0:0.0:0.0:1.0	.	204	Q6P3S6	FBX42_HUMAN	A	204	ENSP00000364742:E204A	ENSP00000364742:E204A	E	-	2	0	FBXO42	16455733	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.449000	0.80643	2.272000	0.75746	0.460000	0.39030	GAG		0.463	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			G	16583146	T	G	16583146	3	3	555	1	0	0	0	0	1	0	0	0	5753	1551	54	5	1566	5	FBXO42	1	16583146	Missense_Mutation	SNP	T	TCGA-CJ-6031-01A-11D-1669-08	10374181	16583146	232667475	2	29975											
PRPF38B	55119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109238748	109238749	+	Nonsense_Mutation	DNP	GC	GC	TT			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr1:109238748_109238749GC>TT	ENST00000370025.4	+	3	698_699	c.429_430GC>TT	c.(427-432)aaGCaa>aaTTaa	p.143_144KQ>N*	PRPF38B_ENST00000370022.5_Nonsense_Mutation_p.143_144KQ>N*|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370021.1_Nonsense_Mutation_p.32_33KQ>N*	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	143					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.K143>?(1)|p.Q144*(1)|p.K143N(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TAACTCGAAAGCAAGTGATGGG	0.376																																																3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex(1)	kidney(3)																																								SO:0001587	stop_gained	55119			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	Exception_encountered	1.37:g.109238748_109238749delinsTT	ENSP00000359042:p.K143_Q144delinsN*		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000370025.4	37	CCDS788.1																																																																																				0.376	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		TT	109238749	GC	TT	109238748	4	4	555	1	0	0	0	0	0	1	0	0	12573	962	34	4	439	4	PRPF38B	1	109238748	Nonsense_Mutation	DNP	GC	TCGA-CJ-6031-01A-11D-1669-08	92655602	109238748	140011873	3	29976											
FAM40A	85369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110582061	110582061	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr1:110582061A>T	ENST00000369795.3	+	5	527	c.505A>T	c.(505-507)Atg>Ttg	p.M169L	STRIP1_ENST00000369796.1_Missense_Mutation_p.M74L|STRIP1_ENST00000369794.2_Missense_Mutation_p.M169L	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	169					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.M169L(1)									GCAGTCCTGGATGCGCTACAA	0.547																																																1	Substitution - Missense(1)	kidney(1)											116	92	100					1																	110582061		2203	4300	6503	SO:0001583	missense	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.505A>T	1.37:g.110582061A>T	ENSP00000358810:p.Met169Leu		Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.267770	0.23136	.	.	ENSG00000143093	ENST00000369796;ENST00000369795;ENST00000369794	T;T	0.41400	1.03;1.0	5.99	4.77	0.60923	.	0.109693	0.85682	D	0.000000	T	0.10465	0.0256	N	0.12182	0.205	0.48830	D	0.999717	B	0.02656	0.0	B	0.09377	0.004	T	0.12734	-1.0536	10	0.18276	T	0.48	-32.8279	9.4993	0.39008	0.7618:0.1146:0.0:0.1237	.	169	Q5VSL9	FA40A_HUMAN	L	74;169;169	ENSP00000358811:M74L;ENSP00000358810:M169L	ENSP00000358809:M169L	M	+	1	0	FAM40A	110383584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.985000	0.40668	2.310000	0.77875	0.449000	0.29647	ATG		0.547	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		T	110582061	A	T	110582061	3	4	555	1	0	0	0	0	1	0	0	0	5562	333	12	5	523	5	FAM40A	1	110582061	Missense_Mutation	SNP	A	TCGA-CJ-6031-01A-11D-1669-08	1343313	110582061	138668560	4	29977											
CHRNB2	1141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154543879	154543879	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr1:154543879C>A	ENST00000368476.3	+	5	844	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	194					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.L194M(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GGTGGCCAGCCTGGACGACTT	0.587																																																1	Substitution - Missense(1)	kidney(1)											159	118	132					1																	154543879		2203	4300	6503	SO:0001583	missense	1141			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.580C>A	1.37:g.154543879C>A	ENSP00000357461:p.Leu194Met		Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240653	0.22711	.	.	ENSG00000160716	ENST00000368476	D	0.82619	-1.63	4.25	2.14	0.27477	Neurotransmitter-gated ion-channel ligand-binding (3);	0.059842	0.64402	D	0.000004	T	0.53965	0.1829	N	0.17838	0.53	0.35339	D	0.786337	B	0.13594	0.008	B	0.24006	0.05	T	0.45498	-0.9257	10	0.33141	T	0.24	.	8.7953	0.34876	0.1543:0.7508:0.0:0.0949	.	194	P17787	ACHB2_HUMAN	M	194	ENSP00000357461:L194M	ENSP00000357461:L194M	L	+	1	2	CHRNB2	152810503	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.474000	0.35398	0.940000	0.37473	0.467000	0.42956	CTG		0.587	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		A	154543879	C	A	154543879	3	1	555	1	0	0	0	0	1	0	0	0	3393	680	24	4	598	4	CHRNB2	1	154543879	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	43961818	154543879	94706742	5	29978											
C1orf112	55732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169822055	169822055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr1:169822055G>A	ENST00000286031.6	+	24	3189	c.2489G>A	c.(2488-2490)tGg>tAg	p.W830*	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Nonsense_Mutation_p.W830*|SCYL3_ENST00000367771.6_3'UTR|SCYL3_ENST00000367772.4_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	830								p.W830*(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTCCAGCCTGGCTTTCAATG	0.483																																																1	Substitution - Nonsense(1)	kidney(1)											110	115	113					1																	169822055		2203	4300	6503	SO:0001587	stop_gained	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.2489G>A	1.37:g.169822055G>A	ENSP00000286031:p.Trp830*		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Nonsense_Mutation	SNP	ENST00000286031.6	37	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	G	41	8.772778	0.98948	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	.	.	.	5.5	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.615	11.2482	0.49008	0.0854:0.0:0.9146:0.0	.	.	.	.	X	830	.	ENSP00000286031:W830X	W	+	2	0	C1orf112	168088679	1.000000	0.71417	0.849000	0.33467	0.014000	0.08584	6.063000	0.71162	1.319000	0.45190	-0.218000	0.12543	TGG		0.483	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		A	169822055	G	A	169822055	4	1	555	1	0	0	0	0	0	1	0	0	1987	1357	47	2	2575	2	C1orf112	1	169822055	Nonsense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08	15278176	169822055	79428566	6	29979											
NR5A2	2494	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200014591	200014591	+	Silent	SNP	C	C	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr1:200014591C>A	ENST00000367362.3	+	4	588	c.342C>A	c.(340-342)gtC>gtA	p.V114V	NR5A2_ENST00000544748.1_Silent_p.V42V|NR5A2_ENST00000236914.3_Silent_p.V68V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	114					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V114V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGCGAACAGTCCAAAATAATA	0.328																																					Melanoma(179;1138 2773 15678 26136)											1	Substitution - coding silent(1)	kidney(1)											94	96	95					1																	200014591		2203	4300	6503	SO:0001819	synonymous_variant	2494			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.342C>A	1.37:g.200014591C>A			B4E2P3|O95642|Q147U3	Silent	SNP	ENST00000367362.3	37	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	C	9.821	1.185770	0.21870	.	.	ENSG00000116833	ENST00000367357	.	.	.	5.5	4.57	0.56435	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58137	-0.7689	4	.	.	.	.	11.5027	0.50448	0.0:0.8581:0.0:0.1419	.	.	.	.	Y	35	.	.	S	+	2	0	NR5A2	198281214	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.268000	0.33062	2.742000	0.94016	0.655000	0.94253	TCC		0.328	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			A	200014591	C	A	200014591	2	1	555	1	0	0	0	0	0	0	0	1	10638	842	30	4		4	NR5A2	1	200014591	Silent	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	30192536	200014591	49236030	7	29980											
LY75	4065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160667078	160667078	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr2:160667078A>G	ENST00000263636.4	-	32	4685	c.4658T>C	c.(4657-4659)tTg>tCg	p.L1553S	LY75_ENST00000554112.1_Missense_Mutation_p.L1553S|LY75_ENST00000553424.1_Missense_Mutation_p.L1553S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L1553S|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L1553S	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1553	C-type lectin 10. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.L1553S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AAAACTGTGCAATGCCTGATC	0.373																																																1	Substitution - Missense(1)	kidney(1)											192	199	196					2																	160667078		2203	4300	6503	SO:0001583	missense	100526664			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4658T>C	2.37:g.160667078A>G	ENSP00000263636:p.Leu1553Ser		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884402	0.51908	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	4.91	4.91	0.64330	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.26859	U	0.022130	T	0.26011	0.0634	M	0.73598	2.24	0.43394	D	0.995514	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.986;0.985;0.999	T	0.03493	-1.1031	10	0.21014	T	0.42	-9.962	13.0771	0.59093	1.0:0.0:0.0:0.0	.	1553;1553;1553	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	S	1553	ENSP00000451511:L1553S;ENSP00000451446:L1553S;ENSP00000263636:L1553S;ENSP00000423463:L1553S;ENSP00000421035:L1553S	ENSP00000423463:L1553S	L	-	2	0	LY75;LY75-CD302	160375324	1.000000	0.71417	0.987000	0.45799	0.417000	0.31264	5.395000	0.66291	1.976000	0.57569	0.402000	0.26972	TTG		0.373	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			G	160667078	A	G	160667078	3	3	555	1	0	0	0	0	1	0	0	0	9101	131	5	3	526	3	LY75	2	160667078	Missense_Mutation	SNP	A	TCGA-CJ-6031-01A-11D-1669-08		160667078	82532295	8	29981											
TLK1	9874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	171902831	171902831	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr2:171902831C>T	ENST00000431350.2	-	11	1426	c.1022G>A	c.(1021-1023)aGg>aAg	p.R341K	TLK1_ENST00000360843.3_Missense_Mutation_p.R362K|TLK1_ENST00000442919.2_Missense_Mutation_p.R293K|TLK1_ENST00000521943.1_Missense_Mutation_p.R293K|TLK1_ENST00000434911.2_Missense_Mutation_p.R245K			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	341					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R341K(1)|p.R293K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTCCTTTGCCTTTCAATATC	0.378																																																2	Substitution - Missense(2)	kidney(2)											203	183	190					2																	171902831		2203	4300	6503	SO:0001583	missense	9874			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1022G>A	2.37:g.171902831C>T	ENSP00000411099:p.Arg341Lys		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361296	0.82353	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.63744	-0.03;-0.06;-0.03;-0.03;0.01	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	L	0.58428	1.81	0.80722	D	1	B;B;D	0.67145	0.1;0.357;0.996	B;B;D	0.77004	0.109;0.219;0.989	T	0.76061	-0.3097	10	0.46703	T	0.11	-5.903	19.3879	0.94565	0.0:1.0:0.0:0.0	.	245;362;341	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	K	293;341;362;293;245	ENSP00000402165:R293K;ENSP00000411099:R341K;ENSP00000354089:R362K;ENSP00000428113:R293K;ENSP00000409222:R245K	ENSP00000354089:R362K	R	-	2	0	TLK1	171611077	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.652000	0.90054	0.591000	0.81541	AGG		0.378	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		T	171902831	C	T	171902831	3	4	555	1	0	0	0	0	1	0	0	0	15948	681	24	2	1322	2	TLK1	2	171902831	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	11235753	171902831	71296542	9	29982											
NRP2	8828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	206640998	206640998	+	Silent	SNP	C	C	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr2:206640998C>T	ENST00000357118.4	+	16	2485	c.2454C>T	c.(2452-2454)ccC>ccT	p.P818P	NRP2_ENST00000272849.3_Silent_p.P823P|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000412873.2_Intron	NM_201267.1	NP_957719	Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.P823P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGACCGAGCCCACAGTGGACA	0.597											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											82	86	84					2																	206640998		2203	4300	6503	SO:0001819	synonymous_variant	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357118.4:c.2454C>T	2.37:g.206640998C>T		2161	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357118.4	37	CCDS46498.1																																																																																				0.597	NRP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336465.1			T	206640998	C	T	206640998	2	4	555	1	0	0	0	0	0	0	0	1	10663	581	21	2		2	NRP2	2	206640998	Silent	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	34738167	206640998	36558375	10	29983											
INPP5D	3635	broad.mit.edu	37	2	234113207	234113207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr2:234113207delG	ENST00000359570.5	+	28	3375	c.3375delG	c.(3373-3375)ccgfs	p.P1125fs	INPP5D_ENST00000455936.2_Frame_Shift_Del_p.P889fs|INPP5D_ENST00000450745.1_Frame_Shift_Del_p.P889fs|RN7SL32P_ENST00000580514.1_RNA			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1137	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGCCCACCCCGACGCCGCGGC	0.701																																					NSCLC(82;1215 1426 16163 20348 41018)											0													2	3	3					2																	234113207		1487	3460	4947	SO:0001589	frameshift_variant	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.3375delG	2.37:g.234113207delG	ENSP00000352575:p.Pro1125fs		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Del	DEL	ENST00000359570.5	37																																																																																					0.701	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		-	234113207	G	-	234113207	7	5	555	1	0	1	0	1	0	0	0	0	7758	1045	37	0	3021	0	INPP5D	2	234113207	Frame_Shift_Del	DEL	G	TCGA-CJ-6031-01A-11D-1669-08	27472209	234113207	9086166	11	29984											
HDAC4	9759	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	240111615	240111615	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr2:240111615G>C	ENST00000345617.3	-	4	1044	c.253C>G	c.(253-255)Cag>Gag	p.Q85E	HDAC4_ENST00000541256.1_Missense_Mutation_p.Q54E	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	85					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q85E(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ATCTGCCTCTGGATCTGCTGC	0.662																																																1	Substitution - Missense(1)	kidney(1)											38	34	35					2																	240111615		2203	4300	6503	SO:0001583	missense	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.253C>G	2.37:g.240111615G>C	ENSP00000264606:p.Gln85Glu		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600624	0.87055	.	.	ENSG00000068024	ENST00000345617;ENST00000541256;ENST00000454542;ENST00000446876	D;D;T;T	0.83755	-1.76;-1.76;0.4;0.55	4.42	4.42	0.53409	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	M	0.72353	2.195	0.80722	D	1	D;D;D;P;D	0.63046	0.985;0.992;0.992;0.906;0.992	D;P;D;P;D	0.76071	0.981;0.851;0.987;0.551;0.987	D	0.90300	0.4329	9	.	.	.	.	17.4181	0.87506	0.0:0.0:1.0:0.0	.	80;54;54;53;85	B7Z8G5;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;HDAC4_HUMAN	E	85;54;54;58	ENSP00000264606:Q85E;ENSP00000443057:Q54E;ENSP00000405226:Q54E;ENSP00000392912:Q58E	.	Q	-	1	0	HDAC4	239776552	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.273000	0.95719	2.207000	0.71202	0.655000	0.94253	CAG		0.662	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		C	240111615	G	C	240111615	3	2	555	1	0	0	0	0	1	0	0	0	7011	1357	47	4	3097	4	HDAC4	2	240111615	Missense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08	5998408	240111615	3087758	12	29985											
VHL	7428	hgsc.bcm.edu	37	3	10183859	10183859	+	Missense_Mutation	SNP	C	C	T	rs17855706		TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr3:10183859C>T	ENST00000256474.2	+	1	1168	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.H110Y	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	110	Involved in binding to CCT complex.		H -> Y (in dbSNP:rs17855706). {ECO:0000269|PubMed:15489334}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)|p.H110>RIN(1)|p.I109_R113del(1)|p.G106fs*49(1)|p.H110fs*49(1)|p.H110_S111del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCGCCGCATCCACAGCTACCG	0.692		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Deletion - Frameshift(2)|Deletion - In frame(2)|Unknown(2)|Complex - insertion inframe(1)	kidney(7)											11	12	12					3																	10183859		1772	3719	5491	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.328C>T	3.37:g.10183859C>T	ENSP00000256474:p.His110Tyr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510008	0.85282	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99811	-6.87;-6.87	5.17	4.21	0.49690	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.287952	0.36778	N	0.002409	D	0.99254	0.9740	N	0.22421	0.69	0.20873	N	0.999835	D;D	0.67145	0.994;0.996	P;D	0.65573	0.899;0.936	D	0.96283	0.9208	10	0.52906	T	0.07	-9.4471	11.8157	0.52209	0.2538:0.7462:0.0:0.0	rs17855706	110;110	P40337-2;P40337	.;VHL_HUMAN	Y	110	ENSP00000256474:H110Y;ENSP00000344757:H110Y	ENSP00000256474:H110Y	H	+	1	0	VHL	10158859	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.257000	0.32932	2.425000	0.82216	0.479000	0.44913	CAC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183859	C	T	10183859	3	4	555	1	0	0	0	0	1	0	0	0	17167	594	21	2	330	2	VHL	3	10183859	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08		10183859	187838571	13	29986											
ATG7	10533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	11389435	11389435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr3:11389435G>T	ENST00000354449.3	+	12	1235	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	ATG7_ENST00000354956.5_Nonsense_Mutation_p.E404*|ATG7_ENST00000446450.2_Nonsense_Mutation_p.E365*	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	404					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.E404*(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTATGAGTTTGAAGATTGCCT	0.522																																																2	Substitution - Nonsense(2)	lung(1)|kidney(1)											119	117	118					3																	11389435		2203	4300	6503	SO:0001587	stop_gained	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1210G>T	3.37:g.11389435G>T	ENSP00000346437:p.Glu404*		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Nonsense_Mutation	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278909	0.95489	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-27.1626	15.2218	0.73316	0.0:0.0:0.8595:0.1405	.	.	.	.	X	365;404;404	.	ENSP00000346437:E404X	E	+	1	0	ATG7	11364435	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.316000	0.96319	2.840000	0.97914	0.655000	0.94253	GAA		0.522	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		T	11389435	G	T	11389435	4	4	555	1	0	0	0	0	0	1	0	0	1101	1291	45	4	1252	4	ATG7	3	11389435	Nonsense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08	1205576	11389435	186632995	14	29987											
KCNH8	131096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	19436689	19436689	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr3:19436689G>A	ENST00000328405.2	+	7	1329	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	355					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.V355I(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGTACTATCGTCCTGACTCT	0.498																																					NSCLC(124;1625 1765 8018 24930 42026)											1	Substitution - Missense(1)	kidney(1)											223	179	194					3																	19436689		2203	4300	6503	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1063G>A	3.37:g.19436689G>A	ENSP00000328813:p.Val355Ile		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267140	0.95399	.	.	ENSG00000183960	ENST00000328405	D	0.97404	-4.37	5.92	5.92	0.95590	Ion transport (1);	0.000000	0.28958	U	0.013596	D	0.97390	0.9146	L	0.41492	1.28	0.80722	D	1	D;D	0.76494	0.971;0.999	P;D	0.64595	0.591;0.927	D	0.96636	0.9470	9	.	.	.	.	20.3172	0.98658	0.0:0.0:1.0:0.0	.	355;355	B7Z398;Q96L42	.;KCNH8_HUMAN	I	355	ENSP00000328813:V355I	.	V	+	1	0	KCNH8	19411693	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.801000	0.96364	0.650000	0.86243	GTC		0.498	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		A	19436689	G	A	19436689	3	1	555	1	0	0	0	0	1	0	0	0	8040	1145	40	1	1089	1	KCNH8	3	19436689	Missense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08	8047254	19436689	178585741	15	29988											
POLQ	10721	broad.mit.edu;ucsc.edu	37	3	121208173	121208173	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr3:121208173T>G	ENST00000264233.5	-	16	3733	c.3605A>C	c.(3604-3606)gAa>gCa	p.E1202A		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1202					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.E1337A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTTGTCTGTTCATGAGATTG	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											1	Substitution - Missense(1)	kidney(1)											200	206	204					3																	121208173		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3605A>C	3.37:g.121208173T>G	ENSP00000264233:p.Glu1202Ala		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	5.547	0.285890	0.10513	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.46451	0.87	5.21	1.49	0.22878	.	1.020640	0.07821	N	0.959775	T	0.21186	0.0510	N	0.19112	0.55	0.09310	N	1	B;B	0.28258	0.085;0.205	B;B	0.24394	0.039;0.053	T	0.24977	-1.0145	10	0.17832	T	0.49	.	0.6244	0.00783	0.1679:0.1929:0.1747:0.4645	.	1202;374	O75417;O75417-2	DPOLQ_HUMAN;.	A	825;1202;1338	ENSP00000264233:E1202A	ENSP00000264233:E1202A	E	-	2	0	POLQ	122690863	0.001000	0.12720	0.004000	0.12327	0.092000	0.18411	0.694000	0.25512	1.007000	0.39238	0.460000	0.39030	GAA		0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		G	121208173	T	G	121208173	3	3	555	1	0	0	0	0	1	0	0	0	12210	1783	62	5	4227	5	POLQ	3	121208173	Missense_Mutation	SNP	T	TCGA-CJ-6031-01A-11D-1669-08	101771484	121208173	76814257	16	29989											
RASA2	5922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141278763	141278763	+	Silent	SNP	A	A	G			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr3:141278763A>G	ENST00000452898.1	+	9	824	c.789A>G	c.(787-789)ctA>ctG	p.L263L	RASA2_ENST00000286364.3_Silent_p.L263L	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	263	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.L263L(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATGGAAACCTAGTCCAAGATG	0.393																																																2	Substitution - coding silent(2)	kidney(2)											124	117	119					3																	141278763		2203	4300	6503	SO:0001819	synonymous_variant	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.789A>G	3.37:g.141278763A>G			A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37																																																																																					0.393	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		G	141278763	A	G	141278763	2	3	555	1	0	0	0	0	0	0	0	1	13067	407	15	3		3	RASA2	3	141278763	Silent	SNP	A	TCGA-CJ-6031-01A-11D-1669-08	20070590	141278763	56743667	17	29990											
TACC3	10460	hgsc.bcm.edu	37	4	1729795	1729795	+	Silent	SNP	A	A	G	rs200539908	byFrequency	TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr4:1729795A>G	ENST00000313288.4	+	4	772	c.666A>G	c.(664-666)gaA>gaG	p.E222E		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	222					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GAGCCGAGGAAGAATGCAAAG	0.617													-|||	192	0.0383387	0.056	0.0173	5008	,	,		16940	0.0129		0.0199	False		,,,				2504	0.0746				Ovarian(120;482 2294 11894 35824)											0								A		135,4267		4,127,2070	20	22	21		666	0.8	0	4		21	86,8506		2,82,4212	no	coding-synonymous	TACC3	NM_006342.1		6,209,6282	GG,GA,AA		1.0009,3.0668,1.7008		222/839	1729795	221,12773	2201	4296	6497	SO:0001819	synonymous_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.666A>G	4.37:g.1729795A>G			Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	CCDS3352.1																																																																																				0.617	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			G	1729795	A	G	1729795	2	3	555	1	0	0	0	0	0	0	0	1	15508	69	3	3		3	TACC3	4	1729795	Silent	SNP	A	TCGA-CJ-6031-01A-11D-1669-08		1729795	189424481	18	29991											
AGXT2L1	64850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	109667938	109667938	+	Silent	SNP	T	T	C			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr4:109667938T>C	ENST00000296486.3	-	10	1306	c.1152A>G	c.(1150-1152)gaA>gaG	p.E384E	ETNPPL_ENST00000512646.1_Silent_p.E326E|ETNPPL_ENST00000510706.1_Silent_p.E344E|ETNPPL_ENST00000411864.2_Silent_p.E378E	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	384						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.E384E(1)									TGTGCTGAGCTTCAGCTGTGG	0.488																																																1	Substitution - coding silent(1)	kidney(1)											239	241	240					4																	109667938		2203	4300	6503	SO:0001819	synonymous_variant	64850			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1152A>G	4.37:g.109667938T>C			B7Z1Y0|E9PBY0|Q9H174	Silent	SNP	ENST00000296486.3	37	CCDS3682.1																																																																																				0.488	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		C	109667938	T	C	109667938	2	2	555	1	0	0	0	0	0	0	0	1	406	1606	56	3		3	AGXT2L1	4	109667938	Silent	SNP	T	TCGA-CJ-6031-01A-11D-1669-08	107938143	109667938	81486338	19	29992											
PCDH18	54510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	138450943	138450943	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr4:138450943C>T	ENST00000344876.4	-	1	2686	c.2300G>A	c.(2299-2301)gGc>gAc	p.G767D	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.G547D|PCDH18_ENST00000412923.2_Missense_Mutation_p.G767D|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	767					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G767D(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGGCAGAGTGCCATTTATGGT	0.517																																																1	Substitution - Missense(1)	kidney(1)											207	173	185					4																	138450943		2203	4300	6503	SO:0001583	missense	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2300G>A	4.37:g.138450943C>T	ENSP00000355082:p.Gly767Asp		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868109	0.51588	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.54479	0.68;0.68;0.57	5.53	5.53	0.82687	.	0.000000	0.44285	D	0.000477	T	0.72653	0.3487	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.984;0.994;0.984	T	0.69650	-0.5088	10	0.40728	T	0.16	.	19.663	0.95879	0.0:1.0:0.0:0.0	.	547;767;767	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	D	767;767;547	ENSP00000355082:G767D;ENSP00000390688:G767D;ENSP00000425903:G547D	ENSP00000355082:G767D	G	-	2	0	PCDH18	138670393	1.000000	0.71417	0.954000	0.39281	0.981000	0.71138	7.269000	0.78482	2.871000	0.98454	0.655000	0.94253	GGC		0.517	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		T	138450943	C	T	138450943	3	4	555	1	0	0	0	0	1	0	0	0	11515	739	26	2	1123	2	PCDH18	4	138450943	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	28783005	138450943	52703333	20	29993											
RXFP1	59350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	159549854	159549854	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr4:159549854G>A	ENST00000307765.5	+	11	1143	c.892G>A	c.(892-894)Gat>Aat	p.D298N	RXFP1_ENST00000470033.1_Missense_Mutation_p.D265N|RXFP1_ENST00000460056.2_Missense_Mutation_p.D217N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D298N|RXFP1_ENST00000448688.2_Missense_Mutation_p.D193N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	298					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.D298N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CCAGAAACTGGATGAATTGTA	0.264																																																1	Substitution - Missense(1)	kidney(1)											39	39	39					4																	159549854		1794	4061	5855	SO:0001583	missense	59350			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.892G>A	4.37:g.159549854G>A	ENSP00000303248:p.Asp298Asn		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547749	0.27652	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.58210	0.4;0.35;0.41;0.35;0.35	5.21	1.37	0.22104	.	0.318925	0.38005	N	0.001855	T	0.26702	0.0653	N	0.05351	-0.065	0.30577	N	0.762903	B;B;B;B;B;B;B;B;B	0.32467	0.089;0.271;0.04;0.072;0.143;0.001;0.076;0.372;0.173	B;B;B;B;B;B;B;B;B	0.37198	0.158;0.158;0.063;0.098;0.098;0.003;0.102;0.243;0.158	T	0.20338	-1.0278	10	0.17832	T	0.49	.	4.1558	0.10260	0.084:0.2953:0.4685:0.1522	.	309;325;193;298;265;217;168;235;298	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;.;RXFP1_HUMAN	N	217;298;193;298;265;168	ENSP00000423306:D217N;ENSP00000303248:D298N;ENSP00000414885:D193N;ENSP00000345889:D298N;ENSP00000420712:D265N	ENSP00000303248:D298N	D	+	1	0	RXFP1	159769304	1.000000	0.71417	0.990000	0.47175	0.911000	0.54048	1.195000	0.32186	0.001000	0.14605	0.460000	0.39030	GAT		0.264	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		A	159549854	G	A	159549854	3	1	555	1	0	0	0	0	1	0	0	0	13765	1174	41	2	934	2	RXFP1	4	159549854	Missense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08	21098911	159549854	31604422	21	29994											
PCDHB13	56123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140594887	140594887	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr5:140594887G>T	ENST00000341948.4	+	1	1379	c.1192G>T	c.(1192-1194)Gaa>Taa	p.E398*		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	398	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E398*(1)|p.E398K(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAATCCGCGGAAAACTTTTA	0.453																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(1)|kidney(1)											89	88	88					5																	140594887		2203	4300	6503	SO:0001587	stop_gained	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1192G>T	5.37:g.140594887G>T	ENSP00000345491:p.Glu398*		A8K9V6	Nonsense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	24.2	4.509698	0.85282	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	.	.	.	3.5	0.507	0.16967	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	7.9544	0.30033	0.4429:0.0:0.5571:0.0	.	.	.	.	X	398	.	ENSP00000345491:E398X	E	+	1	0	PCDHB13	140575071	0.000000	0.05858	0.001000	0.08648	0.249000	0.25844	-0.604000	0.05667	0.135000	0.18707	0.298000	0.19748	GAA		0.453	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		T	140594887	G	T	140594887	4	4	555	1	0	0	0	0	0	1	0	0	11540	1175	41	4	1194	4	PCDHB13	5	140594887	Nonsense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08		140594887	40320373	22	29995											
NSD1	64324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176631295	176631295	+	Splice_Site	SNP	T	T	C			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr5:176631295T>C	ENST00000439151.2	+	4	1281		c.e4+2		NSD1_ENST00000354179.4_Splice_Site|NSD1_ENST00000361032.4_Intron|NSD1_ENST00000347982.4_Splice_Site	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGGCATAAGGTAGGAAACGAA	0.378			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Unknown(2)	kidney(2)											80	74	76					5																	176631295		2203	4300	6503	SO:0001630	splice_region_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1236+2T>C	5.37:g.176631295T>C			Q96PD8|Q96RN7	Splice_Site	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077383	0.76415	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000508896;ENST00000439151;ENST00000347982	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2975	0.73922	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NSD1	176563901	1.000000	0.71417	0.994000	0.49952	0.865000	0.49528	7.165000	0.77544	2.155000	0.67459	0.533000	0.62120	.		0.378	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	Intron	C	176631295	T	C	176631295	5	2	555	1	0	0	0	0	0	0	1	0	10671	1652	57	3	1248	3	NSD1	5	176631295	Splice_Site	SNP	T	TCGA-CJ-6031-01A-11D-1669-08	36036408	176631295	4283965	23	29996											
RAB24	53917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176729440	176729440	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr5:176729440G>A	ENST00000303251.6	-	5	810	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000393611.2_Missense_Mutation_p.R131C|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000303270.6_Missense_Mutation_p.R102C	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	131					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.R131C(1)				all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACGTCGACGCCTCCGGTCT	0.577																																																1	Substitution - Missense(1)	kidney(1)											108	111	110					5																	176729440		2203	4300	6503	SO:0001583	missense	53917			AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"RAB, member RAS oncogene"	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.391C>T	5.37:g.176729440G>A	ENSP00000304376:p.Arg131Cys		Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876950	0.72180	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.77620	-1.11;-1.11;-1.11	5.13	5.13	0.70059	Small GTP-binding protein domain (1);	0.698769	0.13310	U	0.397551	T	0.72342	0.3448	N	0.19112	0.55	0.53688	D	0.999973	P;D	0.53885	0.948;0.963	P;P	0.48901	0.594;0.459	T	0.74520	-0.3638	10	0.72032	D	0.01	0.0455	13.4679	0.61266	0.0:0.0:0.8032:0.1968	.	131;102	Q969Q5;F8W8H5	RAB24_HUMAN;.	C	131;131;102	ENSP00000377235:R131C;ENSP00000304376:R131C;ENSP00000302085:R102C	ENSP00000304376:R131C	R	-	1	0	RAB24	176662046	0.298000	0.24417	0.945000	0.38365	0.894000	0.52154	2.504000	0.45416	2.388000	0.81334	0.555000	0.69702	CGT		0.577	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781		A	176729440	G	A	176729440	3	1	555	1	0	0	0	0	1	0	0	0	12917	1087	38	1	236	1	RAB24	5	176729440	Missense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08	98145	176729440	4185820	24	29997											
IBTK	25998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	82950105	82950105	+	Silent	SNP	A	A	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr6:82950105A>T	ENST00000306270.7	-	2	648	c.99T>A	c.(97-99)atT>atA	p.I33I	IBTK_ENST00000503631.1_Silent_p.I33I|IBTK_ENST00000510291.1_Silent_p.I33I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	33					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.I33I(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GAAAGGCCTTAATCTGGTTTT	0.473																																																1	Substitution - coding silent(1)	kidney(1)											142	136	138					6																	82950105		2203	4300	6503	SO:0001819	synonymous_variant	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.99T>A	6.37:g.82950105A>T			Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	ENST00000306270.7	37	CCDS34490.1																																																																																				0.473	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		T	82950105	A	T	82950105	2	4	555	1	0	0	0	0	0	0	0	1	7478	358	13	5		5	IBTK	6	82950105	Silent	SNP	A	TCGA-CJ-6031-01A-11D-1669-08		82950105	88164962	25	29998	215	2									
IBTK	25998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	82950107	82950107	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr6:82950107T>C	ENST00000306270.7	-	2	646	c.97A>G	c.(97-99)Att>Gtt	p.I33V	IBTK_ENST00000503631.1_Missense_Mutation_p.I33V|IBTK_ENST00000510291.1_Missense_Mutation_p.I33V	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	33					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.I33V(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAGGCCTTAATCTGGTTTTCG	0.468																																																1	Substitution - Missense(1)	kidney(1)											143	137	139					6																	82950107		2203	4300	6503	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.97A>G	6.37:g.82950107T>C	ENSP00000305721:p.Ile33Val		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597918	0.46318	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.57436	0.4;0.4;0.4	5.78	5.78	0.91487	Ankyrin repeat-containing domain (2);	0.055383	0.64402	D	0.000001	T	0.24236	0.0587	N	0.12471	0.22	0.48632	D	0.999682	P;P;P;P	0.43788	0.817;0.738;0.68;0.738	P;P;B;P	0.47744	0.556;0.507;0.136;0.507	T	0.19257	-1.0311	10	0.05620	T	0.96	-20.8027	16.0962	0.81127	0.0:0.0:0.0:1.0	.	33;33;33;33	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	V	33	ENSP00000305721:I33V;ENSP00000422762:I33V;ENSP00000426405:I33V	ENSP00000305721:I33V	I	-	1	0	IBTK	83006826	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.125000	0.64715	2.207000	0.71202	0.459000	0.35465	ATT		0.468	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		C	82950107	T	C	82950107	3	2	555	1	0	0	0	0	1	0	0	0	7478	1435	50	3	4076	3	IBTK	6	82950107	Missense_Mutation	SNP	T	TCGA-CJ-6031-01A-11D-1669-08	2	82950107	88164960	26	29999	215	2									
NOX3	50508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	155743887	155743887	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr6:155743887G>A	ENST00000159060.2	-	10	1351	c.1249C>T	c.(1249-1251)Ctt>Ttt	p.L417F		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	417					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.L417F(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GATTTCAGAAGAGCAGCGAAG	0.512																																																1	Substitution - Missense(1)	kidney(1)											156	146	149					6																	155743887		2203	4300	6503	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1249C>T	6.37:g.155743887G>A	ENSP00000159060:p.Leu417Phe		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048032	0.55110	.	.	ENSG00000074771	ENST00000159060	T	0.64438	-0.1	5.81	2.61	0.31194	Ferric reductase, NAD binding (1);	0.305394	0.28146	N	0.016430	T	0.49253	0.1546	L	0.43152	1.355	0.37076	D	0.898751	P	0.47841	0.901	P	0.51777	0.679	T	0.55811	-0.8082	10	0.72032	D	0.01	-21.2904	8.1031	0.30870	0.0:0.3283:0.3934:0.2782	.	417	Q9HBY0	NOX3_HUMAN	F	417	ENSP00000159060:L417F	ENSP00000159060:L417F	L	-	1	0	NOX3	155785579	0.861000	0.29849	0.528000	0.27938	0.483000	0.33249	1.331000	0.33793	1.430000	0.47334	0.643000	0.83706	CTT		0.512	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			A	155743887	G	A	155743887	3	1	555	1	0	0	0	0	1	0	0	0	10559	942	33	2	473	2	NOX3	6	155743887	Missense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08	72793780	155743887	15371180	27	30000											
MCM7	4176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99693535	99693535	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr7:99693535G>T	ENST00000303887.5	-	11	2102	c.1457C>A	c.(1456-1458)gCt>gAt	p.A486D	MIR25_ENST00000384816.1_RNA|MCM7_ENST00000354230.3_Missense_Mutation_p.A310D|MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	486	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.A486D(1)|p.A310D(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTGGCGGCAGCCAGGATGGA	0.632																																																2	Substitution - Missense(2)	kidney(2)											94	85	88					7																	99693535		2203	4300	6503	SO:0001583	missense	4176				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1457C>A	7.37:g.99693535G>T	ENSP00000307288:p.Ala486Asp		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665940	0.88251	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.12879	2.64;2.64	5.28	5.28	0.74379	ATPase, AAA+ type, core (1);	0.059289	0.64402	D	0.000003	T	0.60130	0.2245	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79001	-0.1981	10	0.87932	D	0	-19.1517	16.4558	0.84012	0.0:0.0:1.0:0.0	.	486	P33993	MCM7_HUMAN	D	486;423;379;310	ENSP00000307288:A486D;ENSP00000346171:A310D	ENSP00000307288:A486D	A	-	2	0	MCM7	99531471	1.000000	0.71417	0.981000	0.43875	0.636000	0.38137	9.550000	0.98110	2.738000	0.93877	0.655000	0.94253	GCT		0.632	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			T	99693535	G	T	99693535	3	4	555	1	0	0	0	0	1	0	0	0	9394	971	34	4	722	4	MCM7	7	99693535	Missense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08		99693535	59445128	28	30001											
HYAL4	23553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123517205	123517206	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr7:123517205_123517206TG>CT	ENST00000223026.4	+	5	2080_2081	c.1442_1443TG>CT	c.(1441-1443)tTG>tCT	p.L481S	HYAL4_ENST00000476325.1_Missense_Mutation_p.L481S	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	481					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)	p.L481S(1)|p.L481F(1)|p.L481>?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGCATTCAGTTGTGAGATAATT	0.376																																																3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	23553			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	Exception_encountered	7.37:g.123517205_123517206delinsCT	ENSP00000223026:p.Leu481Ser		D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	CCDS5789.1																																																																																				0.376	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		CT	123517206	TG	CT	123517205	3	2	555	1	0	0	0	0	1	0	0	0	7468	1821	63	3	1452	3	HYAL4	7	123517205	Missense_Mutation	DNP	TG	TCGA-CJ-6031-01A-11D-1669-08	23823670	123517205	35621458	29	30002											
FZD3	7976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28385020	28385020	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr8:28385020T>C	ENST00000240093.3	+	5	1221	c.743T>C	c.(742-744)gTa>gCa	p.V248A	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.V248A	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	248					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V248A(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TACATGATGGTATCCTTAATT	0.378																																																1	Substitution - Missense(1)	kidney(1)											94	97	96					8																	28385020		2203	4300	6503	SO:0001583	missense	7976			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.743T>C	8.37:g.28385020T>C	ENSP00000240093:p.Val248Ala		A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852652	0.71719	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.82893	-1.66;-1.66	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92011	0.7469	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93478	0.6825	10	0.87932	D	0	.	14.3288	0.66537	0.0:0.0:0.0:1.0	.	248	Q9NPG1	FZD3_HUMAN	A	248	ENSP00000437489:V248A;ENSP00000240093:V248A	ENSP00000240093:V248A	V	+	2	0	FZD3	28440939	1.000000	0.71417	0.985000	0.45067	0.973000	0.67179	8.040000	0.89188	1.974000	0.57490	0.533000	0.62120	GTA		0.378	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		C	28385020	T	C	28385020	3	2	555	1	0	0	0	0	1	0	0	0	6133	1638	57	3	753	3	FZD3	8	28385020	Missense_Mutation	SNP	T	TCGA-CJ-6031-01A-11D-1669-08		28385020	117979002	30	30003											
FGFR1	2260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38282176	38282176	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr8:38282176C>A	ENST00000447712.2	-	7	1728	c.787G>T	c.(787-789)Gcc>Tcc	p.A263S	FGFR1_ENST00000532791.1_Missense_Mutation_p.A263S|FGFR1_ENST00000356207.5_Missense_Mutation_p.A174S|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000397108.4_Missense_Mutation_p.A261S|FGFR1_ENST00000425967.3_Missense_Mutation_p.A294S|FGFR1_ENST00000341462.5_Missense_Mutation_p.A264S|FGFR1_ENST00000326324.6_Missense_Mutation_p.A172S|FGFR1_ENST00000397113.2_Missense_Mutation_p.A261S|FGFR1_ENST00000397091.5_Missense_Mutation_p.A261S|FGFR1_ENST00000335922.5_Missense_Mutation_p.A255S|FGFR1_ENST00000397103.1_Missense_Mutation_p.A172S	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	263	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)	p.A263S(3)|p.A174S(1)|p.A255S(1)	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)	GTTTTGTTGGCGGGCAACCCT	0.587		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	5	Substitution - Missense(5)	kidney(5)											89	96	94					8																	38282176		2109	4233	6342	SO:0001583	missense	2260			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.787G>T	8.37:g.38282176C>A	ENSP00000400162:p.Ala263Ser		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	36	5.695958	0.96802	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108;ENST00000326296;ENST00000533668;ENST00000525001	T;T;T;T;T;T;T;T;T;T;T;T;T	0.75589	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;2.8;-0.95	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.093568	0.64402	D	0.000001	T	0.74245	0.3691	N	0.04116	-0.275	0.80722	D	1	P;D;D;D;D;D;D;D;D;D;D;D	0.63880	0.947;0.988;0.988;0.993;0.987;0.968;0.968;0.991;0.988;0.979;0.979;0.988	P;P;P;D;D;P;P;D;P;D;D;D	0.68353	0.825;0.907;0.886;0.928;0.943;0.857;0.857;0.957;0.907;0.953;0.936;0.928	T	0.80398	-0.1399	10	0.62326	D	0.03	.	20.2738	0.98482	0.0:1.0:0.0:0.0	.	174;174;261;294;172;172;174;263;255;174;172;263	B5A959;P11362-3;P11362-7;P11362-21;B5A958;P11362-14;P11362-4;P11362;P11362-20;P11362-16;P11362-18;P11362-2	.;.;.;.;.;.;.;FGFR1_HUMAN;.;.;.;.	S	261;294;263;264;263;263;261;174;255;172;172;261;264;103;263	ENSP00000380280:A261S;ENSP00000393312:A294S;ENSP00000400162:A263S;ENSP00000340636:A264S;ENSP00000432972:A263S;ENSP00000380302:A261S;ENSP00000348537:A174S;ENSP00000337247:A255S;ENSP00000327229:A172S;ENSP00000380292:A172S;ENSP00000380297:A261S;ENSP00000434869:A103S;ENSP00000434712:A263S	ENSP00000311337:A263S	A	-	1	0	FGFR1	38401333	1.000000	0.71417	0.994000	0.49952	0.932000	0.56968	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GCC		0.587	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				A	38282176	C	A	38282176	3	1	555	1	0	0	0	0	1	0	0	0	5865	768	27	4	1969	4	FGFR1	8	38282176	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	9897156	38282176	108081846	31	30004											
FER1L6	654463	broad.mit.edu;hgsc.bcm.edu	37	8	125035809	125035809	+	Silent	SNP	C	C	T	rs559137171		TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr8:125035809C>T	ENST00000522917.1	+	18	2465	c.2259C>T	c.(2257-2259)tgC>tgT	p.C753C	FER1L6_ENST00000399018.1_Silent_p.C753C|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	753						integral component of membrane (GO:0016021)		p.C753C(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCAAACACTGCGGCAAGATCA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18874	0.0		0.0	False		,,,				2504	0.001															2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)											67	70	69					8																	125035809		1948	4140	6088	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2259C>T	8.37:g.125035809C>T				Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.493	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	125035809	C	T	125035809	2	4	555	1	0	0	0	0	0	0	0	1	5817	776	27	1		1	FER1L6	8	125035809	Silent	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	86753633	125035809	21328213	32	30005											
PPP1R16A	84988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145724303	145724303	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr8:145724303G>A	ENST00000292539.4	+	4	1252	c.335G>A	c.(334-336)tGc>tAc	p.C112Y	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.C112Y|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	112						plasma membrane (GO:0005886)		p.C112Y(1)		NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTGCAGTGCTGCATTGATGAT	0.652																																																1	Substitution - Missense(1)	kidney(1)											65	54	58					8																	145724303		2203	4300	6503	SO:0001583	missense	84988				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.335G>A	8.37:g.145724303G>A	ENSP00000292539:p.Cys112Tyr		D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	CCDS6429.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.8|20.8|20.8	4.055449|4.055449|4.055449	0.75960|0.75960|0.75960	.|.|.	.|.|.	ENSG00000255182|ENSG00000160972|ENSG00000255182	ENST00000532766|ENST00000292539;ENST00000435887|ENST00000527086	.|T;T|.	.|0.64803|.	.|-0.12;-0.12|.	4.76|4.76|4.76	4.76|4.76|4.76	0.60689|0.60689|0.60689	.|Ankyrin repeat-containing domain (4);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|.	0.83547|0.83547|.	0.5278|0.5278|.	M|M|M	0.90814|0.90814|0.90814	3.15|3.15|3.15	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.87578|.	.|0.998|.	D|D|.	0.87601|0.87601|.	0.2497|0.2497|.	6|10|.	0.87932|0.87932|0.87932	D|D|D	0|0|0	.|.|.	15.2564|15.2564|15.2564	0.73588|0.73588|0.73588	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|112|.	.|Q96I34|.	.|PP16A_HUMAN|.	V|Y|X	31|112|46	.|ENSP00000292539:C112Y;ENSP00000391126:C112Y|.	ENSP00000435686:A31V|ENSP00000292539:C112Y|ENSP00000437304:Q46X	A|C|Q	-|+|-	2|2|1	0|0|0	CTD-2517M22.14|PPP1R16A|CTD-2517M22.14	145695111|145695111|145695111	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.555000|0.555000|0.555000	0.35460|0.35460|0.35460	5.314000|5.314000|5.314000	0.65804|0.65804|0.65804	2.198000|2.198000|2.198000	0.70561|0.70561|0.70561	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GCA|TGC|CAG		0.652	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		A	145724303	G	A	145724303	3	1	555	1	0	0	0	0	1	0	0	0	12370	1319	46	2	345	2	PPP1R16A	8	145724303	Missense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08	20688494	145724303	639719	33	30006											
MLANA	2315	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	5897599	5897600	+	Missense_Mutation	DNP	AC	AC	GA			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr9:5897599_5897600AC>GA	ENST00000381477.3	+	3	280_281	c.120_121AC>GA	c.(118-123)ttACtg>ttGAtg	p.L41M	MLANA_ENST00000490518.1_3'UTR|MLANA_ENST00000381471.1_Missense_Mutation_p.L41M|MLANA_ENST00000381476.1_Missense_Mutation_p.L41M|KIAA2026_ENST00000443149.2_5'Flank	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	41						endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|melanosome (GO:0042470)|trans-Golgi network (GO:0005802)		p.L40>?(1)|p.L41M(1)|p.L40L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		TGGGAGTCTTACTGCTCATCGG	0.485																																																3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	2315				CCDS6466.1	9p24.1	2008-02-05			ENSG00000120215	ENSG00000120215			7124	protein-coding gene	gene with protein product		605513					Standard	NM_005511		Approved	MART1	uc003zjo.1	Q16655	OTTHUMG00000019510	Exception_encountered	9.37:g.5897599_5897600delinsGA	ENSP00000370886:p.Leu41Met		Q6ICU4	Silent|Missense_Mutation	SNP	ENST00000381477.3	37	CCDS6466.1																																																																																				0.485	MLANA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051643.1			GA	5897600	AC	GA	5897599	3	3	555	1	0	0	0	0	1	0	0	0	9613	388	14	3	126	3	MLANA	9	5897599	Missense_Mutation	DNP	AC	TCGA-CJ-6031-01A-11D-1669-08		5897599	135315832	34	30007											
KIAA1797	54914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	20874780	20874780	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr9:20874780C>T	ENST00000380249.1	+	21	2655	c.2291C>T	c.(2290-2292)tCa>tTa	p.S764L	FOCAD_ENST00000605086.1_Missense_Mutation_p.S200L|FOCAD_ENST00000338382.6_Missense_Mutation_p.S764L|FOCAD_ENST00000604828.1_3'UTR	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	764						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.S764L(1)									AAACTGTTGTCACTCACTCCC	0.403																																																1	Substitution - Missense(1)	kidney(1)											253	229	237					9																	20874780		2203	4300	6503	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2291C>T	9.37:g.20874780C>T	ENSP00000369599:p.Ser764Leu		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817849	0.32145	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.66099	-0.19;-0.19	5.6	5.6	0.85130	Armadillo-type fold (1);	0.485335	0.22755	N	0.056022	T	0.53254	0.1785	L	0.48642	1.525	0.34088	D	0.660366	B	0.06786	0.001	B	0.06405	0.002	T	0.55879	-0.8071	10	0.12766	T	0.61	-27.2634	14.2003	0.65699	0.0:0.9284:0.0:0.0716	.	764	Q5VW36	K1797_HUMAN	L	764	ENSP00000369599:S764L;ENSP00000344307:S764L	ENSP00000344307:S764L	S	+	2	0	KIAA1797	20864780	0.018000	0.18449	0.801000	0.32222	0.491000	0.33493	0.534000	0.23098	2.786000	0.95864	0.650000	0.86243	TCA		0.403	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		T	20874780	C	T	20874780	3	4	555	1	0	0	0	0	1	0	0	0	8260	838	29	2	2361	2	KIAA1797	9	20874780	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	14977181	20874780	120338651	35	30008											
ANUBL1	93550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	46121526	46121526	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr10:46121526A>G	ENST00000344646.5	-	7	1960	c.1745T>C	c.(1744-1746)tTa>tCa	p.L582S	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.L508S|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	582							zinc ion binding (GO:0008270)	p.L582S(1)									TGTGCTCTGTAATCTATTTCT	0.458																																																1	Substitution - Missense(1)	kidney(1)											93	94	94					10																	46121526		2203	4300	6503	SO:0001583	missense	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.1745T>C	10.37:g.46121526A>G	ENSP00000339484:p.Leu582Ser		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	A	5.201	0.222652	0.09863	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.25414	1.8;1.8	5.6	1.94	0.25998	.	1.103350	0.06899	N	0.805679	T	0.29158	0.0725	M	0.66939	2.045	0.09310	N	0.999997	B	0.13594	0.008	B	0.06405	0.002	T	0.31223	-0.9951	10	0.51188	T	0.08	-33.4013	8.5544	0.33471	0.763:0.0:0.237:0.0	.	582	Q86XD8	ANUB1_HUMAN	S	582;508;464	ENSP00000339484:L582S;ENSP00000363486:L508S	ENSP00000339484:L582S	L	-	2	0	ANUBL1	45441532	0.028000	0.19301	0.111000	0.21465	0.291000	0.27294	2.134000	0.42102	0.413000	0.25759	0.379000	0.24179	TTA		0.458	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		G	46121526	A	G	46121526	3	3	555	1	0	0	0	0	1	0	0	0	713	372	13	3	454	3	ANUBL1	10	46121526	Missense_Mutation	SNP	A	TCGA-CJ-6031-01A-11D-1669-08		46121526	89413221	36	30009											
NEURL	9148	broad.mit.edu	37	10	105344764	105344764	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr10:105344764C>A	ENST00000369780.4	+	4	1530	c.1121C>A	c.(1120-1122)cCt>cAt	p.P374H	NEURL_ENST00000369777.2_Missense_Mutation_p.P357H	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		374	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P374H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCTTTCAGCCCTGAGGCCCTG	0.746																																																1	Substitution - Missense(1)	kidney(1)											6	6	6					10																	105344764		1985	3970	5955	SO:0001583	missense	9148																														ENST00000369780.4:c.1121C>A	10.37:g.105344764C>A	ENSP00000358795:p.Pro374His		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611588	0.87258	.	.	ENSG00000107954	ENST00000369780;ENST00000369777	.	.	.	4.7	4.7	0.59300	NEUZ (2);	0.052809	0.85682	D	0.000000	T	0.79028	0.4377	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.82303	-0.0524	9	0.62326	D	0.03	-17.6939	17.6584	0.88184	0.0:1.0:0.0:0.0	.	374	O76050	NEU1A_HUMAN	H	374;357	.	ENSP00000358792:P357H	P	+	2	0	NEURL	105334754	1.000000	0.71417	0.995000	0.50966	0.774000	0.43823	7.813000	0.86123	2.167000	0.68274	0.491000	0.48974	CCT		0.746	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			A	105344764	C	A	105344764	3	1	555	1	0	0	0	0	1	0	0	0	10347	681	24	4	1135	4	NEURL	10	105344764	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	59223238	105344764	30189983	37	30010											
C10orf79	80217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105953637	105953637	+	Missense_Mutation	SNP	C	C	T	rs145913363	byFrequency	TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr10:105953637C>T	ENST00000278064.2	-	11	1547	c.1222G>A	c.(1222-1224)Gtg>Atg	p.V408M	WDR96_ENST00000357060.3_Missense_Mutation_p.V477M|WDR96_ENST00000369720.1_Missense_Mutation_p.V408M|WDR96_ENST00000428666.1_Missense_Mutation_p.V478M														p.V477M(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGTGCTGCACGGACGATTCC	0.517													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18860	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											81	59	66					10																	105953637		2203	4300	6503	SO:0001583	missense	0																														ENST00000278064.2:c.1222G>A	10.37:g.105953637C>T	ENSP00000278064:p.Val408Met			Missense_Mutation	SNP	ENST00000278064.2	37		2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	15.41	2.825653	0.50739	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720	T;T;T;T	0.40756	1.17;1.17;1.17;1.02	5.07	0.744	0.18353	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.772182	0.10654	N	0.649509	T	0.45013	0.1321	M	0.72118	2.19	0.09310	N	1	D;D	0.76494	0.999;0.997	P;D	0.64042	0.882;0.921	T	0.37079	-0.9721	10	0.72032	D	0.01	.	1.6925	0.02855	0.1603:0.4797:0.1743:0.1857	.	478;477	B4DHB6;Q8NDM7	.;WDR96_HUMAN	M	477;478;408;408	ENSP00000349568:V477M;ENSP00000400289:V478M;ENSP00000278064:V408M;ENSP00000358734:V408M	ENSP00000278064:V408M	V	-	1	0	WDR96	105943627	0.014000	0.17966	0.002000	0.10522	0.028000	0.11728	0.284000	0.18864	0.349000	0.23975	0.650000	0.86243	GTG		0.517	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			T	105953637	C	T	105953637	3	4	555	1	0	0	0	0	1	0	0	0	1620	536	19	1	3680	1	C10orf79	10	105953637	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	608873	105953637	29581110	38	30011											
FGFR2	2263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	123298145	123298145	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr10:123298145A>G	ENST00000358487.5	-	6	981	c.709T>C	c.(709-711)Tac>Cac	p.Y237H	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000457416.2_Missense_Mutation_p.Y237H|FGFR2_ENST00000359354.2_Missense_Mutation_p.Y237H|FGFR2_ENST00000369056.1_Missense_Mutation_p.Y237H|FGFR2_ENST00000356226.4_Missense_Mutation_p.Y122H|FGFR2_ENST00000369059.1_Missense_Mutation_p.Y122H|FGFR2_ENST00000357555.5_Missense_Mutation_p.Y148H|FGFR2_ENST00000346997.2_Missense_Mutation_p.Y237H|FGFR2_ENST00000369060.4_Missense_Mutation_p.Y237H|FGFR2_ENST00000369061.4_Missense_Mutation_p.Y237H|FGFR2_ENST00000351936.6_Missense_Mutation_p.Y237H|FGFR2_ENST00000360144.3_Missense_Mutation_p.Y148H	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	237	Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.Y237H(3)|p.Y148H(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ATGGACCCGTATTCATTCTCC	0.493		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																														Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	4	Substitution - Missense(4)	kidney(4)											179	146	157					10																	123298145		2203	4300	6503	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.709T>C	10.37:g.123298145A>G	ENSP00000351276:p.Tyr237His		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938381	0.34189	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.218522	0.49305	D	0.000155	T	0.61974	0.2390	L	0.33245	0.995	0.22171	N	0.999316	B;B;B;B;B;B;B;B;B;B;B;B	0.28801	0.048;0.025;0.01;0.223;0.015;0.045;0.01;0.005;0.033;0.087;0.004;0.131	B;B;B;B;B;B;B;B;B;B;B;B	0.42214	0.236;0.082;0.084;0.38;0.072;0.105;0.096;0.025;0.365;0.273;0.02;0.354	T	0.57353	-0.7826	10	0.33141	T	0.24	.	8.9722	0.35912	0.8635:0.0:0.1365:0.0	.	256;256;122;237;256;237;148;122;237;256;148;237	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	H	148;237;237;237;122;237;122;237;237;237;148;237;237;148;237	ENSP00000350166:Y148H;ENSP00000358057:Y237H;ENSP00000351276:Y237H;ENSP00000348559:Y122H;ENSP00000358056:Y237H;ENSP00000358055:Y122H;ENSP00000263451:Y237H;ENSP00000410294:Y237H;ENSP00000309878:Y237H;ENSP00000353262:Y148H;ENSP00000358052:Y237H;ENSP00000358054:Y237H;ENSP00000337665:Y148H;ENSP00000352309:Y237H	ENSP00000337665:Y148H	Y	-	1	0	FGFR2	123288135	0.914000	0.31030	0.045000	0.18777	0.879000	0.50718	4.565000	0.60836	2.371000	0.80710	0.533000	0.62120	TAC		0.493	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		G	123298145	A	G	123298145	3	3	555	1	0	0	0	0	1	0	0	0	5868	449	16	3	2064	3	FGFR2	10	123298145	Missense_Mutation	SNP	A	TCGA-CJ-6031-01A-11D-1669-08	17344508	123298145	12236602	39	30012	216	2									
FGFR2	2263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	123298147	123298147	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr10:123298147T>G	ENST00000358487.5	-	6	979	c.707A>C	c.(706-708)gAa>gCa	p.E236A	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000457416.2_Missense_Mutation_p.E236A|FGFR2_ENST00000359354.2_Missense_Mutation_p.E236A|FGFR2_ENST00000369056.1_Missense_Mutation_p.E236A|FGFR2_ENST00000356226.4_Missense_Mutation_p.E121A|FGFR2_ENST00000369059.1_Missense_Mutation_p.E121A|FGFR2_ENST00000357555.5_Missense_Mutation_p.E147A|FGFR2_ENST00000346997.2_Missense_Mutation_p.E236A|FGFR2_ENST00000369060.4_Missense_Mutation_p.E236A|FGFR2_ENST00000369061.4_Missense_Mutation_p.E236A|FGFR2_ENST00000351936.6_Missense_Mutation_p.E236A|FGFR2_ENST00000360144.3_Missense_Mutation_p.E147A	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	236	Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.E236A(3)|p.E147A(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GGACCCGTATTCATTCTCCAC	0.488		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																														Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	4	Substitution - Missense(4)	kidney(4)											179	147	158					10																	123298147		2203	4300	6503	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.707A>C	10.37:g.123298147T>G	ENSP00000351276:p.Glu236Ala		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.051539	0.36181	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	6.17	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186804	0.56097	D	0.000031	T	0.53578	0.1805	L	0.35249	1.045	0.26128	N	0.980458	B;B;B;B;B;B;B;B;B;B;B;B	0.29232	0.009;0.238;0.031;0.04;0.004;0.005;0.025;0.057;0.001;0.005;0.026;0.003	B;B;B;B;B;B;B;B;B;B;B;B	0.31946	0.095;0.101;0.095;0.047;0.01;0.009;0.068;0.138;0.033;0.017;0.025;0.026	T	0.49293	-0.8955	10	0.41790	T	0.15	.	7.2975	0.26401	0.1268:0.073:0.0:0.8002	.	255;255;121;236;255;236;147;121;236;255;147;236	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	A	147;236;236;236;121;236;121;236;236;236;147;236;236;147;236	ENSP00000350166:E147A;ENSP00000358057:E236A;ENSP00000351276:E236A;ENSP00000348559:E121A;ENSP00000358056:E236A;ENSP00000358055:E121A;ENSP00000263451:E236A;ENSP00000410294:E236A;ENSP00000309878:E236A;ENSP00000353262:E147A;ENSP00000358052:E236A;ENSP00000358054:E236A;ENSP00000337665:E147A;ENSP00000352309:E236A	ENSP00000337665:E147A	E	-	2	0	FGFR2	123288137	0.030000	0.19436	0.111000	0.21465	0.850000	0.48378	2.230000	0.42999	1.114000	0.41781	-0.408000	0.06270	GAA		0.488	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		G	123298147	T	G	123298147	3	3	555	1	0	0	0	0	1	0	0	0	5868	1783	62	5	2066	5	FGFR2	10	123298147	Missense_Mutation	SNP	T	TCGA-CJ-6031-01A-11D-1669-08	2	123298147	12236600	40	30013	216	2									
RNH1	6050	broad.mit.edu	37	11	498772	498772	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr11:498772C>A	ENST00000534797.1	-	5	2183	c.776G>T	c.(775-777)aGg>aTg	p.R259M	RNH1_ENST00000438658.2_Missense_Mutation_p.R259M|RNH1_ENST00000397614.1_Missense_Mutation_p.R259M|RNH1_ENST00000354420.2_Missense_Mutation_p.R259M|RNH1_ENST00000356187.5_Missense_Mutation_p.R259M|RNH1_ENST00000533410.1_Missense_Mutation_p.R259M|RNH1_ENST00000397604.3_Missense_Mutation_p.R259M|RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000397615.2_Missense_Mutation_p.R259M			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.R259M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACAGGGTCCTGAGCCTGGA	0.706																																																1	Substitution - Missense(1)	kidney(1)											17	19	18					11																	498772		2201	4297	6498	SO:0001583	missense	6050				CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"ribonuclease/angiogenin inhibitor"	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.776G>T	11.37:g.498772C>A	ENSP00000433999:p.Arg259Met		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301117	0.23650	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000529768;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187	T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	3.49	-3.21	0.05140	.	1.306900	0.05143	N	0.494583	T	0.58793	0.2147	M	0.72894	2.215	0.09310	N	1	D	0.69078	0.997	P	0.50825	0.651	T	0.60047	-0.7339	10	0.62326	D	0.03	.	8.9225	0.35621	0.0:0.3421:0.0:0.6579	.	259	P13489	RINI_HUMAN	M	259;259;259;259;53;259;259;259;259	ENSP00000433999:R259M;ENSP00000380738:R259M;ENSP00000380739:R259M;ENSP00000380729:R259M;ENSP00000432170:R53M;ENSP00000435594:R259M;ENSP00000416589:R259M;ENSP00000346402:R259M;ENSP00000348515:R259M	ENSP00000346402:R259M	R	-	2	0	RNH1	488772	0.000000	0.05858	0.001000	0.08648	0.131000	0.20780	-1.732000	0.01851	-0.590000	0.05866	0.549000	0.68633	AGG		0.706	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		A	498772	C	A	498772	3	1	555	1	0	0	0	0	1	0	0	0	13510	681	24	4	629	4	RNH1	11	498772	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08		498772	134507744	41	30014											
PLCB3	5331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64028903	64028903	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr11:64028903A>T	ENST00000540288.1	+	15	1866	c.1763A>T	c.(1762-1764)gAg>gTg	p.E588V	PLCB3_ENST00000279230.6_Missense_Mutation_p.E588V|PLCB3_ENST00000325234.5_Missense_Mutation_p.E521V	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	588					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E588V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AATGCCACTGAGGAGATGTCC	0.617																																																1	Substitution - Missense(1)	kidney(1)											153	119	131					11																	64028903		2201	4297	6498	SO:0001583	missense	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1763A>T	11.37:g.64028903A>T	ENSP00000443631:p.Glu588Val		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462688	0.84425	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.52295	0.67;0.67;0.67	4.85	4.85	0.62838	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.274139	0.39985	N	0.001212	T	0.62405	0.2425	M	0.64404	1.975	0.58432	D	0.999997	D;D	0.69078	0.997;0.983	P;P	0.62885	0.892;0.908	T	0.65639	-0.6119	10	0.59425	D	0.04	.	13.3947	0.60843	1.0:0.0:0.0:0.0	.	521;588	G5E960;Q01970	.;PLCB3_HUMAN	V	588;588;521	ENSP00000279230:E588V;ENSP00000443631:E588V;ENSP00000324660:E521V	ENSP00000279230:E588V	E	+	2	0	PLCB3	63785479	1.000000	0.71417	0.996000	0.52242	0.780000	0.44128	9.187000	0.94912	1.824000	0.53156	0.254000	0.18369	GAG		0.617	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			T	64028903	A	T	64028903	3	4	555	1	0	0	0	0	1	0	0	0	12031	304	11	5	1821	5	PLCB3	11	64028903	Missense_Mutation	SNP	A	TCGA-CJ-6031-01A-11D-1669-08	63530131	64028903	70977613	42	30015											
SIK3	23387	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	116746997	116746997	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr11:116746997A>G	ENST00000292055.4	-	8	928	c.893T>C	c.(892-894)aTg>aCg	p.M298T	SIK3_ENST00000446921.2_Missense_Mutation_p.M356T|SIK3_ENST00000542607.1_Missense_Mutation_p.M298T|SIK3_ENST00000434315.2_Missense_Mutation_p.M197T|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.M356T	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	298	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.M356T(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GTCCAGTCCCATGTCCTCCAT	0.463																																																1	Substitution - Missense(1)	kidney(1)											230	183	199					11																	116746997		2201	4296	6497	SO:0001583	missense	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.893T>C	11.37:g.116746997A>G	ENSP00000292055:p.Met298Thr		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.891709	0.52014	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	T;T;T;T	0.71341	-0.53;-0.56;-0.5;-0.16	5.59	5.59	0.84812	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);Protein kinase-like domain (1);	0.000000	0.50627	U	0.000120	T	0.70211	0.3198	M	0.67953	2.075	0.80722	D	1	B;B;B	0.30793	0.295;0.003;0.132	B;B;B	0.28991	0.097;0.011;0.065	T	0.72283	-0.4339	10	0.87932	D	0	.	15.7466	0.77949	1.0:0.0:0.0:0.0	.	298;197;298	A1A5A8;A1A5A9;Q9Y2K2	.;.;SIK3_HUMAN	T	356;298;298;197	ENSP00000364449:M356T;ENSP00000292055:M298T;ENSP00000438108:M298T;ENSP00000415873:M197T	ENSP00000292055:M298T	M	-	2	0	SIK3	116252207	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.746000	0.74866	2.117000	0.64856	0.528000	0.53228	ATG		0.463	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		G	116746997	A	G	116746997	3	3	555	1	0	0	0	0	1	0	0	0	14325	217	8	3	2962	3	SIK3	11	116746997	Missense_Mutation	SNP	A	TCGA-CJ-6031-01A-11D-1669-08	52718094	116746997	18259519	43	30016											
PZP	5858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9344841	9344841	+	Silent	SNP	C	C	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr12:9344841C>T	ENST00000261336.2	-	13	1522	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K	PZP_ENST00000381997.2_Silent_p.K367K	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	498					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.K498K(1)|p.K367K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CGATGACTCCCTTAGCCATGA	0.463																																					Melanoma(125;1402 1695 4685 34487 38571)											2	Substitution - coding silent(2)	kidney(2)											100	88	92					12																	9344841		2203	4300	6503	SO:0001819	synonymous_variant	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1494G>A	12.37:g.9344841C>T			A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.463	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		T	9344841	C	T	9344841	2	4	555	1	0	0	0	0	0	0	0	1	12875	680	24	2		2	PZP	12	9344841	Silent	SNP	C	TCGA-CJ-6031-01A-11D-1669-08		9344841	124507054	44	30017											
PIK3C2G	5288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	18435099	18435099	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr12:18435099T>G	ENST00000266497.5	+	1	122	c.84T>G	c.(82-84)aaT>aaG	p.N28K	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N28K|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.N28K|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N28K			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	28					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.N28K(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCTTTGTAAATCAACCCCATT	0.363																																																2	Substitution - Missense(2)	kidney(2)											63	59	60					12																	18435099		1864	4104	5968	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.84T>G	12.37:g.18435099T>G	ENSP00000266497:p.Asn28Lys		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	9.956	1.221550	0.22457	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.64991	1.25;-0.06;-0.06;-0.13	4.53	-0.538	0.11868	.	2.266350	0.02170	N	0.059606	T	0.46054	0.1373	L	0.29908	0.895	0.09310	N	1	P;B	0.35272	0.493;0.361	B;B	0.31101	0.124;0.058	T	0.35895	-0.9770	10	0.56958	D	0.05	-5.5696	2.4599	0.04538	0.3527:0.2028:0.0:0.4445	.	28;28	F5H369;O75747	.;P3C2G_HUMAN	K	28	ENSP00000443850:N28K;ENSP00000404845:N28K;ENSP00000266497:N28K;ENSP00000445381:N28K	ENSP00000266497:N28K	N	+	3	2	PIK3C2G	18326366	0.012000	0.17670	0.001000	0.08648	0.037000	0.13140	0.098000	0.15189	-0.082000	0.12640	-0.336000	0.08194	AAT		0.363	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		G	18435099	T	G	18435099	3	3	555	1	0	0	0	0	1	0	0	0	11913	1432	50	5	86	5	PIK3C2G	12	18435099	Missense_Mutation	SNP	T	TCGA-CJ-6031-01A-11D-1669-08	9090258	18435099	115416796	45	30018											
FAM179B	23116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45432114	45432114	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr14:45432114C>T	ENST00000361577.3	+	1	704	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.R164W|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.R164W	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	164								p.R164W(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGACGTTCTCCGGGGTCAGGG	0.567																																																1	Substitution - Missense(1)	kidney(1)											73	81	78					14																	45432114		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.490C>T	14.37:g.45432114C>T	ENSP00000355045:p.Arg164Trp		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393303	0.62066	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.58358	0.34;0.34;0.34	4.54	4.54	0.55810	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.38381	N	0.001705	T	0.57681	0.2070	N	0.24115	0.695	0.43667	D	0.996093	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.978;0.995;0.989;0.978	T	0.62034	-0.6939	10	0.72032	D	0.01	-6.6038	12.6429	0.56718	0.0:1.0:0.0:0.0	.	164;164;164;164	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	W	164	ENSP00000355045:R164W;ENSP00000354917:R164W;ENSP00000371668:R164W	ENSP00000354917:R164W	R	+	1	2	FAM179B	44501864	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.245000	0.43133	2.352000	0.79861	0.655000	0.94253	CGG		0.567	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		T	45432114	C	T	45432114	3	4	555	1	0	0	0	0	1	0	0	0	5508	643	23	1	492	1	FAM179B	14	45432114	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08		45432114	61917426	46	30019											
LTBP2	4053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74967715	74967715	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr14:74967715C>T	ENST00000261978.4	-	36	5724	c.5338G>A	c.(5338-5340)Gac>Aac	p.D1780N	LTBP2_ENST00000556690.1_Missense_Mutation_p.D1736N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1780	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D1780N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCGTTCAAGTCATCACACTCA	0.577											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											46	40	42					14																	74967715		2203	4300	6503	SO:0001583	missense	4053				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5338G>A	14.37:g.74967715C>T	ENSP00000261978:p.Asp1780Asn	1156	Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236380	0.79800	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.92199	-2.99;-2.99	5.54	5.54	0.83059	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.44483	D	0.000446	D	0.87245	0.6129	N	0.16567	0.415	0.51767	D	0.999938	B	0.25351	0.124	B	0.28465	0.09	T	0.82329	-0.0511	10	0.37606	T	0.19	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	1780	Q14767	LTBP2_HUMAN	N	1780;1736	ENSP00000261978:D1780N;ENSP00000451477:D1736N	ENSP00000261978:D1780N	D	-	1	0	LTBP2	74037468	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	4.465000	0.60141	2.884000	0.98904	0.655000	0.94253	GAC		0.577	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		T	74967715	C	T	74967715	3	4	555	1	0	0	0	0	1	0	0	0	9076	826	29	2	131	2	LTBP2	14	74967715	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	29535601	74967715	32381825	47	30020											
MLH3	27030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75513898	75513898	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr14:75513898C>A	ENST00000556740.1	-	1	2496	c.2461G>T	c.(2461-2463)Gca>Tca	p.A821S	MLH3_ENST00000556257.1_Missense_Mutation_p.A821S|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.A821S|MLH3_ENST00000238662.7_Missense_Mutation_p.A821S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	821					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.A821S(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATGTGGCTTGCTGGTTGACAA	0.408								Mismatch excision repair (MMR)																																								2	Substitution - Missense(2)	kidney(2)											83	85	84					14																	75513898		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2461G>T	14.37:g.75513898C>A	ENSP00000452316:p.Ala821Ser		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	3.154	-0.173512	0.06421	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.80653	-1.35;-1.35;-1.4;-1.35	5.93	1.94	0.25998	.	0.728099	0.12405	N	0.471814	T	0.68238	0.2979	L	0.36672	1.1	0.09310	N	0.999998	B;B	0.29301	0.241;0.011	B;B	0.29785	0.107;0.018	T	0.54302	-0.8314	10	0.32370	T	0.25	3.8711	4.6062	0.12378	0.1501:0.499:0.2726:0.0783	.	821;821	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	S	821	ENSP00000348020:A821S;ENSP00000238662:A821S;ENSP00000451540:A821S;ENSP00000452316:A821S	ENSP00000238662:A821S	A	-	1	0	MLH3	74583651	0.046000	0.20272	0.029000	0.17559	0.028000	0.11728	0.472000	0.22116	0.074000	0.16767	0.655000	0.94253	GCA		0.408	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		A	75513898	C	A	75513898	3	1	555	1	0	0	0	0	1	0	0	0	9620	797	28	4	1948	4	MLH3	14	75513898	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	546183	75513898	31835642	48	30021											
LCMT2	9836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43621613	43621613	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr15:43621613C>A	ENST00000305641.5	-	1	1190	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C	ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000422466.2_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	359					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.G359C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GAGGCGTGGCCATATCTCTTC	0.567																																																1	Substitution - Missense(1)	kidney(1)											46	45	46					15																	43621613		2201	4299	6500	SO:0001583	missense	9836			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1075G>T	15.37:g.43621613C>A	ENSP00000307214:p.Gly359Cys		Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647278	0.47258	.	.	ENSG00000168806	ENST00000305641	T	0.75704	-0.96	5.54	5.54	0.83059	.	0.056761	0.64402	D	0.000001	D	0.86785	0.6016	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87896	0.2687	10	0.87932	D	0	-21.8914	14.8538	0.70319	0.0:1.0:0.0:0.0	.	359	O60294	LCMT2_HUMAN	C	359	ENSP00000307214:G359C	ENSP00000307214:G359C	G	-	1	0	LCMT2	41408905	0.987000	0.35691	0.570000	0.28473	0.365000	0.29674	2.838000	0.48199	2.885000	0.99019	0.655000	0.94253	GGC		0.567	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		A	43621613	C	A	43621613	3	1	555	1	0	0	0	0	1	0	0	0	8681	594	21	4	989	4	LCMT2	15	43621613	Missense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08		43621613	58909779	49	30022											
ZNF710	374655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90616473	90616473	+	Silent	SNP	C	C	G	rs146964408	byFrequency	TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr15:90616473C>G	ENST00000268154.4	+	3	1880	c.1629C>G	c.(1627-1629)ccC>ccG	p.P543P	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P543P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TACACTCGCCCGTGAAGCCAT	0.592																																																1	Substitution - coding silent(1)	kidney(1)											102	96	98					15																	90616473		2200	4298	6498	SO:0001819	synonymous_variant	374655			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1629C>G	15.37:g.90616473C>G			A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	CCDS10358.1																																																																																				0.592	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		G	90616473	C	G	90616473	2	3	555	1	0	0	0	0	0	0	0	1	18120	639	23	4		4	ZNF710	15	90616473	Silent	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	46994860	90616473	11914919	50	30023											
MAPK3	5595	broad.mit.edu;ucsc.edu	37	16	30133218	30133218	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr16:30133218G>A	ENST00000263025.4	-	2	364	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	MAPK3_ENST00000484663.1_5'UTR|MAPK3_ENST00000322266.5_Missense_Mutation_p.R94C|MAPK3_ENST00000395202.1_Missense_Mutation_p.R94C|MAPK3_ENST00000395200.1_Missense_Mutation_p.R65C|MAPK3_ENST00000395199.3_Missense_Mutation_p.R94C|MAPK3_ENST00000403394.1_Missense_Mutation_p.R94C	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	94	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)	p.R94C(1)								Arsenic trioxide(DB01169)|Sulindac(DB00605)	TGGCGGAAGCGCAGCAGGATC	0.592																																																1	Substitution - Missense(1)	kidney(1)											71	58	62					16																	30133218		2197	4300	6497	SO:0001583	missense	5595			M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.280C>T	16.37:g.30133218G>A	ENSP00000263025:p.Arg94Cys		A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812316	0.70912	.	.	ENSG00000102882	ENST00000263025;ENST00000322266;ENST00000403394;ENST00000395200;ENST00000395202;ENST00000395199	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	M	0.64567	1.98	0.80722	D	1	B;P;P	0.36027	0.06;0.519;0.533	B;B;B	0.30855	0.033;0.121;0.093	T	0.69811	-0.5044	10	0.87932	D	0	-11.4158	18.4484	0.90695	0.0:0.0:1.0:0.0	.	94;94;94	P27361-2;P27361-3;P27361	.;.;MK03_HUMAN	C	94;94;94;65;94;94	ENSP00000263025:R94C;ENSP00000327293:R94C;ENSP00000384895:R94C;ENSP00000378626:R65C;ENSP00000378628:R94C;ENSP00000378625:R94C	ENSP00000263025:R94C	R	-	1	0	MAPK3	30040719	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.803000	0.85983	2.655000	0.90218	0.462000	0.41574	CGC		0.592	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			A	30133218	G	A	30133218	3	1	555	1	0	0	0	0	1	0	0	0	9281	1087	38	1	944	1	MAPK3	16	30133218	Missense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08		30133218	60221535	51	30024											
CA7	766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66887326	66887326	+	Silent	SNP	G	G	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr16:66887326G>A	ENST00000338437.2	+	7	829	c.720G>A	c.(718-720)agG>agA	p.R240R	CA7_ENST00000394069.3_Silent_p.R184R|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	240					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.R240R(1)		kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	ACGATGAGAGGATCCACATGG	0.602																																																1	Substitution - coding silent(1)	kidney(1)											71	63	66					16																	66887326		2200	4300	6500	SO:0001819	synonymous_variant	766				CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"Carbonic anhydrases"	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.720G>A	16.37:g.66887326G>A			Q541F0|Q86YU0	Silent	SNP	ENST00000338437.2	37	CCDS10821.1																																																																																				0.602	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1			A	66887326	G	A	66887326	2	1	555	1	0	0	0	0	0	0	0	1	2524	1165	41	2		2	CA7	16	66887326	Silent	SNP	G	TCGA-CJ-6031-01A-11D-1669-08	36754108	66887326	23467427	52	30025											
KIAA0182	23199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	85701801	85701801	+	Silent	SNP	C	C	T			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr16:85701801C>T	ENST00000253458.7	+	14	3362	c.3186C>T	c.(3184-3186)caC>caT	p.H1062H	GSE1_ENST00000405402.2_Silent_p.H958H|GSE1_ENST00000393243.1_Silent_p.H989H	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1062								p.H1062H(1)									CGTCCGTCCACTACAACATTC	0.642																																																1	Substitution - coding silent(1)	kidney(1)											137	133	134					16																	85701801		2198	4300	6498	SO:0001819	synonymous_variant	0			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3186C>T	16.37:g.85701801C>T			D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	C	2.608	-0.291481	0.05568	.	.	ENSG00000131149	ENST00000412692;ENST00000438180	.	.	.	5.53	4.52	0.55395	.	.	.	.	.	T	0.56366	0.1980	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53450	-0.8437	4	.	.	.	-33.2119	6.7534	0.23499	0.0:0.7003:0.1514:0.1483	.	.	.	.	I	831;264	.	.	T	+	2	0	KIAA0182	84259302	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	1.416000	0.34759	2.608000	0.88229	0.561000	0.74099	ACT		0.642	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		T	85701801	C	T	85701801	2	4	555	1	0	0	0	0	0	0	0	1	8161	564	20	2		2	KIAA0182	16	85701801	Silent	SNP	C	TCGA-CJ-6031-01A-11D-1669-08	18814475	85701801	4652952	53	30026											
SUPT5H	6829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39955501	39955501	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr19:39955501T>A	ENST00000599117.1	+	12	1055	c.688T>A	c.(688-690)Tac>Aac	p.Y230N	SUPT5H_ENST00000402194.2_Missense_Mutation_p.Y226N|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Y230N|SUPT5H_ENST00000598725.1_Missense_Mutation_p.Y230N|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Y226N			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	230	Interaction with SUPT4H1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.Y230N(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGTGGAGGCCTACAAGCAGAC	0.582																																																1	Substitution - Missense(1)	kidney(1)											105	91	96					19																	39955501		2203	4300	6503	SO:0001583	missense	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.688T>A	19.37:g.39955501T>A	ENSP00000470252:p.Tyr230Asn		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848089	0.91277	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.62	5.62	0.85841	Transcription antitermination protein, NusG, N-terminal (1);	0.188964	0.46145	D	0.000308	T	0.74137	0.3677	L	0.55103	1.725	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.73708	0.968;0.981	T	0.73553	-0.3946	8	.	.	.	-16.4543	14.8054	0.69952	0.0:0.0:0.0:1.0	.	226;230	O00267-2;O00267	.;SPT5H_HUMAN	N	230;226;208;230	.	.	Y	+	1	0	SUPT5H	44647341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.885000	0.87282	2.137000	0.66172	0.533000	0.62120	TAC		0.582	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		A	39955501	T	A	39955501	3	1	555	1	0	0	0	0	1	0	0	0	15404	1522	53	5	726	5	SUPT5H	19	39955501	Missense_Mutation	SNP	T	TCGA-CJ-6031-01A-11D-1669-08		39955501	19173482	54	30027											
KIF3B	9371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30897808	30897808	+	Silent	SNP	G	G	C	rs377463465		TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr20:30897808G>C	ENST00000375712.3	+	2	395	c.228G>C	c.(226-228)acG>acC	p.T76T	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	76	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.T76T(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGATGAGACGTTCCGACCAC	0.483																																																1	Substitution - coding silent(1)	kidney(1)											153	133	140					20																	30897808		2203	4300	6503	SO:0001819	synonymous_variant	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.228G>C	20.37:g.30897808G>C			B2RMP4|B4DSR5|E1P5M5	Silent	SNP	ENST00000375712.3	37	CCDS13200.1																																																																																				0.483	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		C	30897808	G	C	30897808	2	2	555	1	0	0	0	0	0	0	0	1	8303	1132	40	4		4	KIF3B	20	30897808	Silent	SNP	G	TCGA-CJ-6031-01A-11D-1669-08		30897808	32127712	55	30028											
TMPRSS3	64699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	43803192	43803192	+	Silent	SNP	G	G	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr21:43803192G>A	ENST00000291532.3	-	8	1687	c.732C>T	c.(730-732)ggC>ggT	p.G244G	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Silent_p.G328G|TMPRSS3_ENST00000433957.2_Silent_p.G244G|TMPRSS3_ENST00000398405.1_Silent_p.G242G|TMPRSS3_ENST00000398397.3_Silent_p.G244G	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	244	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)	p.G244G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TGATGACAGAGCCCCCGCACA	0.597																																																1	Substitution - coding silent(1)	kidney(1)											79	67	71					21																	43803192		2203	4300	6503	SO:0001819	synonymous_variant	64699			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.732C>T	21.37:g.43803192G>A			D3DSJ6|Q5USC7|Q6ZMC3	Silent	SNP	ENST00000291532.3	37	CCDS13686.1																																																																																				0.597	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			A	43803192	G	A	43803192	2	1	555	1	0	0	0	0	0	0	0	1	16253	958	34	2		2	TMPRSS3	21	43803192	Silent	SNP	G	TCGA-CJ-6031-01A-11D-1669-08		43803192	4326703	56	30029											
ELFN2	114794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	37769171	37769171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chr22:37769171C>A	ENST00000402918.2	-	3	3189	c.2404G>T	c.(2404-2406)Gag>Tag	p.E802*	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	802					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.E802*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCAGATCCTCGTCCTTGGCG	0.637																																																1	Substitution - Nonsense(1)	kidney(1)											96	86	89					22																	37769171		2203	4300	6503	SO:0001587	stop_gained	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2404G>T	22.37:g.37769171C>A	ENSP00000385277:p.Glu802*		Q96PY3	Nonsense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	39	7.911634	0.98557	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.5699	17.8461	0.88730	0.0:1.0:0.0:0.0	.	.	.	.	X	802	.	ENSP00000300147:E802X	E	-	1	0	ELFN2	36099117	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	7.292000	0.78731	2.265000	0.75225	0.561000	0.74099	GAG		0.637	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		A	37769171	C	A	37769171	4	1	555	1	0	0	0	0	0	1	0	0	5060	893	31	4	62	4	ELFN2	22	37769171	Nonsense_Mutation	SNP	C	TCGA-CJ-6031-01A-11D-1669-08		37769171	13535395	57	30030											
FRMPD4	9758	hgsc.bcm.edu;ucsc.edu	37	X	12736252	12736253	+	Frame_Shift_Ins	INS	-	-	A	rs35659462		TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chrX:12736252_12736253insA	ENST00000380682.1	+	16	3813_3814	c.3307_3308insA	c.(3307-3309)gaafs	p.E1103fs		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1103					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGGATGGCTGAAAAAAGTGGA	0.5																																																0																																										SO:0001589	frameshift_variant	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3313dupA	X.37:g.12736258_12736258dupA	ENSP00000370057:p.Glu1103fs		A8K0X9|O15032	Frame_Shift_Ins	INS	ENST00000380682.1	37	CCDS35201.1																																																																																				0.5	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		A	12736253	-	A	12736252	7	5	555	1	0	1	1	0	0	0	0	0	6061	1291	45	0	3369	0	FRMPD4	23	12736252	Frame_Shift_Ins	INS	-	TCGA-CJ-6031-01A-11D-1669-08		12736252	142534308	58	30031											
MAGEB3	4114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	30254882	30254882	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6031-01A-11D-1669-08	TCGA-CJ-6031-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a47debc7-700e-4c64-a9b3-1113609a1ddf	7ab7544e-efbe-4520-a5ad-1bb251253877	g.chrX:30254882G>C	ENST00000361644.2	+	5	1578	c.841G>C	c.(841-843)Gct>Cct	p.A281P		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	281	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A281P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAGAGCCCATGCTGAAACCAG	0.488																																																1	Substitution - Missense(1)	kidney(1)											90	81	84					X																	30254882		2202	4300	6502	SO:0001583	missense	4114			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.841G>C	X.37:g.30254882G>C	ENSP00000355198:p.Ala281Pro		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.385975	0.25031	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.06068	3.35;3.35	4.3	2.54	0.30619	.	0.971903	0.08372	U	0.955888	T	0.32285	0.0824	H	0.94503	3.545	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.05419	-1.0886	10	0.87932	D	0	.	5.6488	0.17604	0.2483:0.0:0.7517:0.0	.	281	O15480	MAGB3_HUMAN	P	281	ENSP00000368271:A281P;ENSP00000355198:A281P	ENSP00000355198:A281P	A	+	1	0	MAGEB3	30164803	0.035000	0.19736	0.007000	0.13788	0.007000	0.05969	1.823000	0.39062	0.554000	0.29061	0.600000	0.82982	GCT		0.488	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		C	30254882	G	C	30254882	3	2	555	1	0	0	0	0	1	0	0	0	9179	1319	46	4	843	4	MAGEB3	23	30254882	Missense_Mutation	SNP	G	TCGA-CJ-6031-01A-11D-1669-08	17518630	30254882	125015678	59	30032											
CPSF3L	54973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1250912	1250912	+	Silent	SNP	A	A	C			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr1:1250912A>C	ENST00000435064.1	-	5	598	c.516T>G	c.(514-516)tcT>tcG	p.S172S	RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000419704.1_Silent_p.S71S|CPSF3L_ENST00000411962.1_Silent_p.S74S|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000545578.1_Silent_p.S143S|CPSF3L_ENST00000540437.1_Silent_p.S178S|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Silent_p.S150S	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	172					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)	p.S172S(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGTAGACCACAGACTCTGAGC	0.582																																																1	Substitution - coding silent(1)	kidney(1)											126	104	112					1																	1250912		2203	4300	6503	SO:0001819	synonymous_variant	54973			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.516T>G	1.37:g.1250912A>C			A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Silent	SNP	ENST00000435064.1	37	CCDS21.1																																																																																				0.582	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		C	1250912	A	C	1250912	2	2	556	1	0	0	0	0	0	0	0	1	3829	175	7	5		5	CPSF3L	1	1250912	Silent	SNP	A	TCGA-CJ-6032-01A-11D-1669-08		1250912	247999709	1	30033											
HMGN2	3151	hgsc.bcm.edu;ucsc.edu	37	1	26799998	26799998	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr1:26799998delA	ENST00000361427.5	+	2	134	c.40delA	c.(40-42)aaafs	p.K14fs	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	14						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TAAGGGAGATAAAGCAAAGGT	0.428																																																0													96	98	97					1																	26799998		2203	4300	6503	SO:0001589	frameshift_variant	3151			BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"High-mobility group / Canonical"	4986	protein-coding gene	gene with protein product		163910	"high-mobility group (nonhistone chromosomal) protein 17", "high-mobility group nucleosomal binding domain 2"	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.40delA	1.37:g.26799998delA	ENSP00000355228:p.Lys14fs		Q0VGD5|Q6FGI5|Q96C64	Frame_Shift_Del	DEL	ENST00000361427.5	37	CCDS283.1																																																																																				0.428	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009901.1	NM_005517		-	26799998	A	-	26799998	7	5	556	1	0	1	0	1	0	0	0	0	7237	363	13	0	46	0	HMGN2	1	26799998	Frame_Shift_Del	DEL	A	TCGA-CJ-6032-01A-11D-1669-08	25549086	26799998	222450623	2	30034											
ARID1A	8289	broad.mit.edu;hgsc.bcm.edu	37	1	27094308	27094308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr1:27094308G>T	ENST00000324856.7	+	11	3387	c.3016G>T	c.(3016-3018)Gag>Tag	p.E1006*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1006*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E623*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1006					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.E1006*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TACAACCAATGAGAAGATCAC	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	kidney(1)											113	98	103					1																	27094308		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3016G>T	1.37:g.27094308G>T	ENSP00000320485:p.Glu1006*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	40	8.248716	0.98724	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-14.304	18.8566	0.92255	0.0:0.0:1.0:0.0	.	.	.	.	X	1006;1006;623	.	ENSP00000320485:E1006X	E	+	1	0	ARID1A	26966895	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.678000	0.91216	0.655000	0.94253	GAG		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27094308	G	T	27094308	4	4	556	1	0	0	0	0	0	1	0	0	913	1291	45	4	3058	4	ARID1A	1	27094308	Nonsense_Mutation	SNP	G	TCGA-CJ-6032-01A-11D-1669-08	294310	27094308	222156313	3	30035											
MATN1	4146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	31188992	31188992	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr1:31188992C>T	ENST00000373765.4	-	5	1006	c.971G>A	c.(970-972)cGc>cAc	p.R324H	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	324	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R324H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCCTGGCGCACAGAGCT	0.567																																																1	Substitution - Missense(1)	kidney(1)											81	88	85					1																	31188992		2203	4300	6503	SO:0001583	missense	4146			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.971G>A	1.37:g.31188992C>T	ENSP00000362870:p.Arg324His		B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	CCDS336.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544286	0.45280	.	.	ENSG00000162510	ENST00000373765	D	0.83591	-1.74	5.34	4.42	0.53409	von Willebrand factor, type A (3);	.	.	.	.	D	0.89040	0.6602	L	0.60455	1.87	0.43435	D	0.995602	D;P	0.89917	1.0;0.909	D;B	0.70716	0.97;0.397	D	0.90191	0.4250	9	0.87932	D	0	-25.4758	16.0215	0.80499	0.0:0.8652:0.1347:0.0	.	308;324	A3KMG0;P21941	.;MATN1_HUMAN	H	324	ENSP00000362870:R324H	ENSP00000362870:R324H	R	-	2	0	MATN1	30961579	1.000000	0.71417	0.870000	0.34147	0.147000	0.21601	3.097000	0.50251	1.232000	0.43678	-0.182000	0.12963	CGC		0.567	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		T	31188992	C	T	31188992	3	4	556	1	0	0	0	0	1	0	0	0	9335	768	27	1	535	1	MATN1	1	31188992	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08	4094684	31188992	218061629	4	30036											
PHC2	1912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33820614	33820614	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr1:33820614G>T	ENST00000257118.5	-	7	1270	c.1217C>A	c.(1216-1218)cCa>cAa	p.P406Q	PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.P406Q|PHC2_ENST00000373422.3_Missense_Mutation_p.P11Q|RP11-415J8.5_ENST00000432703.1_RNA|PHC2_ENST00000431992.1_Missense_Mutation_p.P377Q	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	406					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P406Q(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACACTGGAGTGGCAGGGCGGG	0.662																																																1	Substitution - Missense(1)	kidney(1)											46	49	48					1																	33820614		2203	4300	6503	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1217C>A	1.37:g.33820614G>T	ENSP00000257118:p.Pro406Gln		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021213	0.54576	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000419414	T;T;T;T	0.62364	1.79;1.29;0.03;1.68	5.7	5.7	0.88788	.	0.066680	0.64402	D	0.000009	T	0.78181	0.4243	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.79460	-0.1794	10	0.66056	D	0.02	-11.6843	15.3328	0.74226	0.0:0.0:1.0:0.0	.	406;377;406	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	Q	377;406;11;406	ENSP00000389436:P377Q;ENSP00000257118:P406Q;ENSP00000362521:P11Q;ENSP00000391440:P406Q	ENSP00000257118:P406Q	P	-	2	0	PHC2	33593201	1.000000	0.71417	0.996000	0.52242	0.227000	0.25037	4.888000	0.63164	2.686000	0.91538	0.591000	0.81541	CCA		0.662	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		T	33820614	G	T	33820614	3	4	556	1	0	0	0	0	1	0	0	0	11819	1348	47	4	1391	4	PHC2	1	33820614	Missense_Mutation	SNP	G	TCGA-CJ-6032-01A-11D-1669-08	2631622	33820614	215430007	5	30037											
KIAA0319L	79932	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35909816	35909816	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr1:35909816G>A	ENST00000325722.3	-	17	2836	c.2602C>T	c.(2602-2604)Cgg>Tgg	p.R868W	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.R305W|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	868						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R868W(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTGCTTCCGCAGCTCACTC	0.478																																																2	Substitution - Missense(2)	kidney(2)											89	86	87					1																	35909816		2203	4300	6503	SO:0001583	missense	79932			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2602C>T	1.37:g.35909816G>A	ENSP00000318406:p.Arg868Trp		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	CCDS390.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224726	0.58668	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.10860	3.08;2.83;3.07	5.68	2.34	0.29019	.	0.314319	0.39210	N	0.001434	T	0.15219	0.0367	L	0.28115	0.83	0.80722	D	1	D;D;D	0.76494	0.999;0.978;0.994	P;B;P	0.55667	0.781;0.328;0.502	T	0.02868	-1.1100	10	0.33940	T	0.23	-1.8241	16.2829	0.82707	0.0:0.0:0.5654:0.4346	.	868;868;310	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	W	868;305;868	ENSP00000318406:R868W;ENSP00000362363:R305W;ENSP00000395883:R868W	ENSP00000318406:R868W	R	-	1	2	KIAA0319L	35682403	1.000000	0.71417	0.992000	0.48379	0.943000	0.58893	3.103000	0.50298	0.678000	0.31325	-0.314000	0.08810	CGG		0.478	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		A	35909816	G	A	35909816	3	1	556	1	0	0	0	0	1	0	0	0	8171	1086	38	1	567	1	KIAA0319L	1	35909816	Missense_Mutation	SNP	G	TCGA-CJ-6032-01A-11D-1669-08	2089202	35909816	213340805	6	30038											
SMAP2	64744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40872508	40872508	+	5'UTR	SNP	T	T	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr1:40872508T>A	ENST00000539317.1	+	0	157					NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2						regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V68V(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			TAAAGTCAGTTAACCTCGACC	0.473																																																1	Substitution - coding silent(1)	kidney(1)											107	101	103					1																	40872508		2203	4300	6503	SO:0001623	5_prime_UTR_variant	64744			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"ADP-ribosylation factor GTPase activating proteins"	25082	protein-coding gene	gene with protein product			"stromal membrane-associated protein 1-like", "stromal membrane-associated GTPase-activating protein 2"	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.-37T>A	1.37:g.40872508T>A			B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Silent	SNP	ENST00000539317.1	37	CCDS55593.1																																																																																				0.473	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		A	40872508	T	A	40872508	1	1	556	0	1	0	0	0	0	0	0	0	14773	1741	61	5		5	SMAP2	1	40872508	5'UTR	SNP	T	TCGA-CJ-6032-01A-11D-1669-08	4962692	40872508	208378113	7	30039											
IGSF3	3321	broad.mit.edu;hgsc.bcm.edu	37	1	117156509	117156509	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr1:117156509T>C	ENST00000369486.3	-	4	1475	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	IGSF3_ENST00000369483.1_Missense_Mutation_p.Q237R|IGSF3_ENST00000318837.6_Missense_Mutation_p.Q237R	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	237	Ig-like C2-type 2.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.Q237R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GTCAGAAGGCTGCAGGTGGAA	0.627																																																2	Substitution - Missense(2)	kidney(2)											40	37	38					1																	117156509		2203	4300	6503	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.710A>G	1.37:g.117156509T>C	ENSP00000358498:p.Gln237Arg		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096756	0.76870	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64438	-0.1;-0.1;-0.1	4.77	3.64	0.41730	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.131799	0.53938	N	0.000060	T	0.52853	0.1760	L	0.52206	1.635	0.41757	D	0.989691	P;P	0.46578	0.88;0.866	P;P	0.54544	0.755;0.689	T	0.53041	-0.8494	10	0.36615	T	0.2	-30.2954	8.624	0.33877	0.0:0.0923:0.0:0.9077	.	237;237	O75054;A6NJZ6	IGSF3_HUMAN;.	R	237	ENSP00000358498:Q237R;ENSP00000358495:Q237R;ENSP00000321184:Q237R	ENSP00000321184:Q237R	Q	-	2	0	IGSF3	116958032	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.820000	0.69250	0.840000	0.34995	0.455000	0.32223	CAG		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		C	117156509	T	C	117156509	3	2	556	1	0	0	0	0	1	0	0	0	7603	1580	55	3	2970	3	IGSF3	1	117156509	Missense_Mutation	SNP	T	TCGA-CJ-6032-01A-11D-1669-08	76284001	117156509	132094112	8	30040											
ITGA10	8515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	145530386	145530386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr1:145530386C>T	ENST00000369304.3	+	6	776	c.601C>T	c.(601-603)Cag>Tag	p.Q201*	ITGA10_ENST00000538811.1_Nonsense_Mutation_p.Q70*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.Q58*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	201	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.Q201*(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGACCCAGAACAGATACAGGT	0.502																																																1	Substitution - Nonsense(1)	kidney(1)											97	88	91					1																	145530386		2203	4300	6503	SO:0001587	stop_gained	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.601C>T	1.37:g.145530386C>T	ENSP00000358310:p.Gln201*		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Nonsense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	36	5.965173	0.97151	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	16.1947	0.82018	0.0:1.0:0.0:0.0	.	.	.	.	X	201;167;58;70	.	ENSP00000358310:Q201X	Q	+	1	0	ITGA10	144241743	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.223000	0.78033	2.424000	0.82194	0.650000	0.86243	CAG		0.502	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		T	145530386	C	T	145530386	4	4	556	1	0	0	0	0	0	1	0	0	7875	479	17	2	623	2	ITGA10	1	145530386	Nonsense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08	28373877	145530386	103720235	9	30041											
APOB	338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	21229236	21229236	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr2:21229236C>A	ENST00000233242.1	-	26	10631	c.10504G>T	c.(10504-10506)Ggt>Tgt	p.G3502C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3502	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G3502C(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAACCGAACCCTTGACATCT	0.473																																																1	Substitution - Missense(1)	kidney(1)											97	98	98					2																	21229236		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10504G>T	2.37:g.21229236C>A	ENSP00000233242:p.Gly3502Cys		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916554	0.33815	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.80123	-1.34	5.67	4.78	0.61160	.	0.101421	0.43260	D	0.000585	D	0.88966	0.6581	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.90269	0.4306	10	0.87932	D	0	.	15.0593	0.71939	0.0:0.9309:0.0:0.0691	.	3502	P04114	APOB_HUMAN	C	3502	ENSP00000233242:G3502C	ENSP00000233242:G3502C	G	-	1	0	APOB	21082741	0.853000	0.29707	0.645000	0.29479	0.199000	0.23934	3.029000	0.49712	1.361000	0.45981	0.655000	0.94253	GGT		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21229236	C	A	21229236	3	1	556	1	0	0	0	0	1	0	0	0	785	623	22	4	3203	4	APOB	2	21229236	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08		21229236	221970137	10	30042											
SLC4A1AP	22950	broad.mit.edu;hgsc.bcm.edu	37	2	27908052	27908052	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr2:27908052delG	ENST00000326019.6	+	10	2306	c.2024delG	c.(2023-2025)agtfs	p.S675fs		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	675	Glu-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGAAGCCTCAGTAGGCCACAG	0.463																																																0													93	97	96					2																	27908052		2203	4300	6503	SO:0001589	frameshift_variant	22950				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.2024delG	2.37:g.27908052delG	ENSP00000323837:p.Ser675fs		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Frame_Shift_Del	DEL	ENST00000326019.6	37	CCDS33166.1																																																																																				0.463	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		-	27908052	G	-	27908052	7	5	556	1	0	1	0	1	0	0	0	0	14659	1029	36	0	2062	0	SLC4A1AP	2	27908052	Frame_Shift_Del	DEL	G	TCGA-CJ-6032-01A-11D-1669-08	6678816	27908052	215291321	11	30043	217	2									
SLC4A1AP	22950	hgsc.bcm.edu	37	2	27908054	27908054	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr2:27908054A>T	ENST00000326019.6	+	10	2308	c.2026A>T	c.(2026-2028)Agg>Tgg	p.R676W		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	676	Glu-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AAGCCTCAGTAGGCCACAGCC	0.463																																																0													96	99	98					2																	27908054		2203	4300	6503	SO:0001583	missense	22950				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.2026A>T	2.37:g.27908054A>T	ENSP00000323837:p.Arg676Trp		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987638	0.74589	.	.	ENSG00000163798	ENST00000326019	T	0.30448	1.53	4.82	-3.93	0.04143	.	2.094550	0.01644	N	0.024203	T	0.26882	0.0658	L	0.56769	1.78	0.09310	N	1	P	0.52692	0.955	B	0.40101	0.319	T	0.44528	-0.9322	10	0.37606	T	0.19	2.17	5.4227	0.16409	0.4553:0.2561:0.2885:0.0	.	676	Q9BWU0	NADAP_HUMAN	W	676	ENSP00000323837:R676W	ENSP00000323837:R676W	R	+	1	2	SLC4A1AP	27761558	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	0.017000	0.13399	-0.441000	0.07201	0.379000	0.24179	AGG		0.463	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		T	27908054	A	T	27908054	3	4	556	1	0	0	0	0	1	0	0	0	14659	411	15	5	2064	5	SLC4A1AP	2	27908054	Missense_Mutation	SNP	A	TCGA-CJ-6032-01A-11D-1669-08	2	27908054	215291319	12	30044	217	2									
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	3	10188308	10188309	+	Missense_Mutation	DNP	AT	AT	TA			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	A|T	A|T	A|.	T|.	A|.	A|.	Unknown	Valid|Untested	Somatic	Phase_I	WXS	PGM|none			Illumina HiSeq|Illumina GAIIx	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr3:10188308_10188309AT>TA	ENST00000256474.2	+	2	1291_1292	c.451_452AT>TA	c.(451-453)ATc>TAc	p.I151Y	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	151	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I151T(7)|p.I151S(6)|p.I151N(3)|p.I151F(2)|p.?(1)|p.N150fs*7(1)|p.N150fs*23(1)|p.I151_T152del(1)|p.I151>?(1)|p.I151fs*8(1)|p.N150_I151insY(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTTTGCCAATATCACACTGCCA	0.401		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	26	Substitution - Missense(18)|Deletion - Frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex(1)|Unknown(1)	kidney(26)	GRCh37	CI941928|CM994244	VHL	I|M	rs5030624																																			SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	Exception_encountered	3.37:g.10188308_10188309delinsTA	ENSP00000256474:p.Ile151Tyr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.401	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		TA	10188309	AT	TA	10188308	3	4	556	1	0	0	0	0	1	0	0	0	17167	449	16	5	457	5	VHL	3	10188308	Missense_Mutation	DNP	AT	TCGA-CJ-6032-01A-11D-1669-08		10188308	187834122	13	30045											
ECE2	9718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184001749	184001749	+	Silent	SNP	T	T	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr3:184001749T>A	ENST00000402825.3	+	8	1347	c.1347T>A	c.(1345-1347)atT>atA	p.I449I	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.I331I|ECE2_ENST00000357474.5_Silent_p.I377I|ECE2_ENST00000359140.4_Silent_p.I302I	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	449	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.I377I(1)|p.I449I(1)|p.I302I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATGAGCATTTCGGAGCTGC	0.617																																																3	Substitution - coding silent(3)	kidney(3)											63	54	57					3																	184001749		2203	4300	6503	SO:0001819	synonymous_variant	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1347T>A	3.37:g.184001749T>A			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	CCDS3256.2																																																																																				0.617	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		A	184001749	T	A	184001749	2	1	556	1	0	0	0	0	0	0	0	1	4892	1829	64	5		5	ECE2	3	184001749	Silent	SNP	T	TCGA-CJ-6032-01A-11D-1669-08	173813441	184001749	14020681	14	30046											
TBCCD1	55171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186276258	186276258	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr3:186276258C>A	ENST00000424280.1	-	3	919	c.440G>T	c.(439-441)aGa>aTa	p.R147I	TBCCD1_ENST00000338733.5_Missense_Mutation_p.R147I|TBCCD1_ENST00000446782.1_Missense_Mutation_p.R51I	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	147					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)		p.R147I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGATTTGTTTCTGGGACTGGG	0.408																																																1	Substitution - Missense(1)	kidney(1)											140	139	139					3																	186276258		2203	4300	6503	SO:0001583	missense	55171			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.440G>T	3.37:g.186276258C>A	ENSP00000411253:p.Arg147Ile		B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597726	0.66332	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782;ENST00000413695;ENST00000430560	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;0.49	5.24	4.37	0.52481	.	0.093129	0.64402	D	0.000008	T	0.77343	0.4116	L	0.57536	1.79	0.80722	D	1	D;D	0.57571	0.967;0.98	P;P	0.59221	0.805;0.854	T	0.78033	-0.2362	10	0.51188	T	0.08	-14.4751	12.1604	0.54101	0.0:0.9158:0.0:0.0842	.	51;147	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	I	147;147;51;147;131	ENSP00000411253:R147I;ENSP00000341652:R147I;ENSP00000397091:R51I;ENSP00000391109:R147I;ENSP00000407506:R131I	ENSP00000341652:R147I	R	-	2	0	TBCCD1	187758952	1.000000	0.71417	0.988000	0.46212	0.353000	0.29299	3.369000	0.52365	1.348000	0.45733	-0.137000	0.14449	AGA		0.408	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		A	186276258	C	A	186276258	3	1	556	1	0	0	0	0	1	0	0	0	15637	913	32	4	1253	4	TBCCD1	3	186276258	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08	2274509	186276258	11746172	15	30047											
FAM13A	10144	hgsc.bcm.edu	37	4	89772247	89772248	+	Frame_Shift_Ins	INS	-	-	T	rs371646460		TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr4:89772247_89772248insT	ENST00000264344.5	-	7	1137_1138	c.930_931insA	c.(928-933)ttgcggfs	p.R311fs	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Intron	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	311					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R311W(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TAACTTAGCCGCAAGCTGAGCT	0.45																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001589	frameshift_variant	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.930_931insA	4.37:g.89772247_89772248insT	ENSP00000264344:p.Arg311fs		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Frame_Shift_Ins	INS	ENST00000264344.5	37	CCDS34029.1																																																																																				0.45	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			T	89772248	-	T	89772247	7	5	556	1	0	1	1	0	0	0	0	0	5454	1086	38	0	2245	0	FAM13A	4	89772247	Frame_Shift_Ins	INS	-	TCGA-CJ-6032-01A-11D-1669-08		89772247	101382029	16	30048											
MTTP	4547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	100515934	100515934	+	Missense_Mutation	SNP	T	T	C	rs146513720		TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr4:100515934T>C	ENST00000265517.5	+	7	1006	c.803T>C	c.(802-804)aTg>aCg	p.M268T	MTTP_ENST00000457717.1_Missense_Mutation_p.M268T|MTTP_ENST00000511045.1_Missense_Mutation_p.M295T|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	268	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.M268T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CCAAGATTGATGTCTGGAAAG	0.438																																																1	Substitution - Missense(1)	kidney(1)						T	THR/MET	0,4406		0,0,2203	109	100	103		803	-3.6	0	4	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTTP	NM_000253.2	81	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	268/895	100515934	1,13005	2203	4300	6503	SO:0001583	missense	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.803T>C	4.37:g.100515934T>C	ENSP00000265517:p.Met268Thr		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	T	1.605	-0.525626	0.04141	0.0	1.16E-4	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.38560	1.13;1.13;1.13	4.96	-3.62	0.04543	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.980957	0.08410	N	0.950035	T	0.20820	0.0501	N	0.22421	0.69	0.09310	N	1	B;B	0.14438	0.001;0.01	B;B	0.16722	0.006;0.016	T	0.24693	-1.0153	10	0.17369	T	0.5	-15.731	2.131	0.03750	0.3261:0.066:0.235:0.3728	.	295;268	E9PBP6;P55157	.;MTP_HUMAN	T	295;268;268;268	ENSP00000427679:M295T;ENSP00000400821:M268T;ENSP00000265517:M268T	ENSP00000265517:M268T	M	+	2	0	MTTP	100734957	0.019000	0.18553	0.003000	0.11579	0.029000	0.11900	0.096000	0.15147	-0.746000	0.04766	-0.461000	0.05368	ATG		0.438	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			C	100515934	T	C	100515934	3	2	556	1	0	0	0	0	1	0	0	0	9966	1464	51	3	829	3	MTTP	4	100515934	Missense_Mutation	SNP	T	TCGA-CJ-6032-01A-11D-1669-08	10743687	100515934	90638342	17	30049											
HTR1A	3350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	63256620	63256620	+	Missense_Mutation	SNP	G	G	T	rs140681943		TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr5:63256620G>T	ENST00000323865.3	-	1	1160	c.927C>A	c.(925-927)agC>agA	p.S309R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	309					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.S309R(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GACCAGCCTCGCTGGGCAGAG	0.647																																																1	Substitution - Missense(1)	kidney(1)											37	37	37					5																	63256620		2202	4300	6502	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.927C>A	5.37:g.63256620G>T	ENSP00000316244:p.Ser309Arg		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	8.475	0.858361	0.17178	.	.	ENSG00000178394	ENST00000323865	T	0.63417	-0.04	5.17	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.170192	0.53938	D	0.000054	T	0.44871	0.1314	L	0.31752	0.955	0.37315	D	0.909311	B	0.09022	0.002	B	0.09377	0.004	T	0.35674	-0.9779	10	0.19147	T	0.46	.	10.6001	0.45362	0.2592:0.0:0.7408:0.0	.	309	P08908	5HT1A_HUMAN	R	309	ENSP00000316244:S309R	ENSP00000316244:S309R	S	-	3	2	HTR1A	63292376	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.599000	0.54045	0.640000	0.30582	0.655000	0.94253	AGC		0.647	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		T	63256620	G	T	63256620	3	4	556	1	0	0	0	0	1	0	0	0	7438	1078	38	4	344	4	HTR1A	5	63256620	Missense_Mutation	SNP	G	TCGA-CJ-6032-01A-11D-1669-08		63256620	117658640	18	30050											
ODZ2	57451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	167645829	167645829	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr5:167645829A>T	ENST00000518659.1	+	23	4972	c.4933A>T	c.(4933-4935)Atg>Ttg	p.M1645L	TENM2_ENST00000520394.1_Missense_Mutation_p.M1406L|TENM2_ENST00000403607.2_Missense_Mutation_p.M1469L|TENM2_ENST00000545108.1_Missense_Mutation_p.M1644L|TENM2_ENST00000519204.1_Missense_Mutation_p.M1524L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1645					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.M1524L(1)|p.M1478L(1)|p.M1645L(1)									CAGCAGTGGCATGCCCCGTCA	0.502																																																3	Substitution - Missense(3)	kidney(3)											146	147	147					5																	167645829		2087	4223	6310	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4933A>T	5.37:g.167645829A>T	ENSP00000429430:p.Met1645Leu		Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	A	10.21	1.287641	0.23478	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.55588	1.6;0.51;1.6;1.6;1.6	5.85	-1.92	0.07618	.	0.395773	0.33419	N	0.004937	T	0.21022	0.0506	N	0.10972	0.075	0.26948	N	0.966098	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.04811	-1.0925	10	0.19147	T	0.46	.	0.9659	0.01405	0.4234:0.2282:0.1276:0.2208	.	1644;1645;1406	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	1645;1644;1524;1406;1469	ENSP00000429430:M1645L;ENSP00000438635:M1644L;ENSP00000428964:M1524L;ENSP00000427874:M1406L;ENSP00000384905:M1469L	ENSP00000384905:M1469L	M	+	1	0	ODZ2	167578407	0.991000	0.36638	0.954000	0.39281	0.997000	0.91878	1.347000	0.33975	0.089000	0.17243	0.533000	0.62120	ATG		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		T	167645829	A	T	167645829	3	4	556	1	0	0	0	0	1	0	0	0	10837	217	8	5	4996	5	ODZ2	5	167645829	Missense_Mutation	SNP	A	TCGA-CJ-6032-01A-11D-1669-08	104389209	167645829	13269431	19	30051											
LTA	4049	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	31541279	31541279	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr6:31541279C>G	ENST00000454783.1	+	4	685	c.427C>G	c.(427-429)Ccc>Gcc	p.P143A	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Missense_Mutation_p.P143A	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	143					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)	p.P143A(1)		endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CTCCCAGTACCCCTTCCATGT	0.607																																																1	Substitution - Missense(1)	kidney(1)											185	171	176					6																	31541279		2203	4300	6503	SO:0001583	missense	4049			X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"Tumor necrosis factor (ligand) superfamily"	6709	protein-coding gene	gene with protein product	"TNF superfamily member 1"	153440	"lymphotoxin alpha (TNF superfamily, member 1)"	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.427C>G	6.37:g.31541279C>G	ENSP00000403495:p.Pro143Ala		Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	C	0.122	-1.124487	0.01770	.	.	ENSG00000226979	ENST00000454783;ENST00000418386	T;T	0.65364	-0.15;-0.15	5.16	2.33	0.28932	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.531595	0.20687	N	0.087534	T	0.29945	0.0749	L	0.45470	1.425	0.30523	N	0.768247	B	0.17038	0.02	B	0.16289	0.015	T	0.10683	-1.0619	10	0.38643	T	0.18	-30.4887	6.3498	0.21369	0.0:0.6799:0.0:0.3201	.	143	P01374	TNFB_HUMAN	A	143	ENSP00000403495:P143A;ENSP00000413450:P143A	ENSP00000413450:P143A	P	+	1	0	LTA	31649258	0.028000	0.19301	0.968000	0.41197	0.599000	0.36880	0.933000	0.28897	0.299000	0.22661	-0.140000	0.14226	CCC		0.607	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			G	31541279	C	G	31541279	3	3	556	1	0	0	0	0	1	0	0	0	9070	623	22	4	437	4	LTA	6	31541279	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08		31541279	139573788	20	30052											
RXRB	6257	broad.mit.edu;hgsc.bcm.edu	37	6	33163381	33163381	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr6:33163381C>T	ENST00000374680.3	-	7	1433	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	RXRB_ENST00000374685.4_Missense_Mutation_p.A408T|RXRB_ENST00000544186.1_Missense_Mutation_p.A218T	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	408	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A408T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCTGAATGGGCTGAGTTGCGG	0.567																																																1	Substitution - Missense(1)	kidney(1)											93	88	90					6																	33163381		1510	2708	4218	SO:0001583	missense	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1222G>A	6.37:g.33163381C>T	ENSP00000363812:p.Ala408Thr		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731639	0.89390	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186	D;D;D	0.96802	-4.13;-4.13;-4.13	5.35	5.35	0.76521	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96577	0.8883	M	0.81112	2.525	0.80722	D	1	P;D;D;D	0.55605	0.799;0.972;0.972;0.972	P;P;P;P	0.50162	0.633;0.59;0.59;0.59	D	0.96799	0.9588	10	0.72032	D	0.01	.	16.5991	0.84804	0.0:1.0:0.0:0.0	.	218;408;448;408	E9PK95;Q5STP9;Q59G65;P28702	.;.;.;RXRB_HUMAN	T	408;408;218	ENSP00000363817:A408T;ENSP00000363812:A408T;ENSP00000439222:A218T	ENSP00000363812:A408T	A	-	1	0	RXRB	33271359	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	7.644000	0.83416	2.784000	0.95788	0.549000	0.68633	GCC		0.567	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		T	33163381	C	T	33163381	3	4	556	1	0	0	0	0	1	0	0	0	13770	797	28	2	395	2	RXRB	6	33163381	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08	1622102	33163381	137951686	21	30053											
KCNK17	89822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	39267378	39267378	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr6:39267378G>A	ENST00000373231.4	-	5	1056	c.824C>T	c.(823-825)tCc>tTc	p.S275F	KCNK17_ENST00000453413.2_3'UTR	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	275					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.S275F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GTGGCAGCAGGAACATACCCT	0.562																																																1	Substitution - Missense(1)	kidney(1)											100	92	95					6																	39267378		2203	4300	6503	SO:0001583	missense	89822			AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.824C>T	6.37:g.39267378G>A	ENSP00000362328:p.Ser275Phe		E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075717	0.36662	.	.	ENSG00000124780	ENST00000373231	T	0.26223	1.75	4.64	2.82	0.32997	.	.	.	.	.	T	0.04998	0.0134	L	0.27053	0.805	0.09310	N	0.999992	P	0.45283	0.855	B	0.34652	0.187	T	0.22208	-1.0223	9	0.52906	T	0.07	.	4.6564	0.12620	0.1901:0.0:0.6381:0.1718	.	275	Q96T54	KCNKH_HUMAN	F	275	ENSP00000362328:S275F	ENSP00000362328:S275F	S	-	2	0	KCNK17	39375356	.	.	0.409000	0.26459	0.137000	0.21094	.	.	0.369000	0.24510	0.655000	0.94253	TCC		0.562	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		A	39267378	G	A	39267378	3	1	556	1	0	0	0	0	1	0	0	0	8066	1174	41	2	178	2	KCNK17	6	39267378	Missense_Mutation	SNP	G	TCGA-CJ-6032-01A-11D-1669-08	6103997	39267378	131847689	22	30054											
CUL9	23113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43173114	43173114	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr6:43173114G>A	ENST00000252050.4	+	24	4830	c.4746G>A	c.(4744-4746)atG>atA	p.M1582I	CUL9_ENST00000354495.3_Missense_Mutation_p.M1472I|CUL9_ENST00000372647.2_Missense_Mutation_p.M1582I	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1582					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.M1582I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AACCCATTATGGTCCTTTCTG	0.552																																																1	Substitution - Missense(1)	kidney(1)											160	165	164					6																	43173114		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4746G>A	6.37:g.43173114G>A	ENSP00000252050:p.Met1582Ile		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911852	0.52439	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73789	-0.78;-0.78;-0.78	5.74	4.87	0.63330	Cullin, N-terminal (1);Cullin homology (2);	0.119793	0.53938	D	0.000041	T	0.46795	0.1411	L	0.36672	1.1	0.34139	D	0.666189	B;B;B	0.18310	0.027;0.01;0.01	B;B;B	0.23275	0.037;0.027;0.045	T	0.51733	-0.8668	10	0.87932	D	0	-29.0205	5.6449	0.17584	0.077:0.1706:0.631:0.1215	.	1472;1582;1582	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	I	1582;1472;1582	ENSP00000252050:M1582I;ENSP00000346490:M1472I;ENSP00000361730:M1582I	ENSP00000252050:M1582I	M	+	3	0	CUL9	43281092	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.024000	0.30077	1.430000	0.47334	0.561000	0.74099	ATG		0.552	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		A	43173114	G	A	43173114	3	1	556	1	0	0	0	0	1	0	0	0	4063	1348	47	2	4836	2	CUL9	6	43173114	Missense_Mutation	SNP	G	TCGA-CJ-6032-01A-11D-1669-08	3905736	43173114	127941953	23	30055											
MLLT4	4301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	168344080	168344080	+	Splice_Site	SNP	A	A	G			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr6:168344080A>G	ENST00000447894.2	+	24	3144		c.e24-1		MLLT4_ENST00000366806.2_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000507679.1_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.?(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGATTTGCCTAGGATGGACGT	0.458			T	MLL	AL																																		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	2	Unknown(2)	kidney(2)											221	199	207					6																	168344080		2203	4300	6503	SO:0001630	splice_region_variant	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3145-1A>G	6.37:g.168344080A>G			O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Splice_Site	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	A	21.5	4.151670	0.78001	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0548	0.71904	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLLT4	168086929	1.000000	0.71417	0.952000	0.39060	0.849000	0.48306	8.654000	0.91092	1.954000	0.56735	0.528000	0.53228	.		0.458	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	Intron	G	168344080	A	G	168344080	5	3	556	1	0	0	0	0	0	0	1	0	9631	434	15	3	3237	3	MLLT4	6	168344080	Splice_Site	SNP	A	TCGA-CJ-6032-01A-11D-1669-08	125170966	168344080	2770987	24	30056											
MAGI2	9863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	77885771	77885771	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr7:77885771C>A	ENST00000354212.4	-	10	1789	c.1536G>T	c.(1534-1536)ttG>ttT	p.L512F	MAGI2_ENST00000535697.1_Missense_Mutation_p.L349F|MAGI2_ENST00000522391.1_Missense_Mutation_p.L512F|MAGI2_ENST00000419488.1_Missense_Mutation_p.L512F|MAGI2_ENST00000536571.1_Missense_Mutation_p.L344F	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	512					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.L512F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GATCAAAGGGCAAAGGGTAGC	0.483																																																1	Substitution - Missense(1)	kidney(1)											75	63	67					7																	77885771		2203	4300	6503	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1536G>T	7.37:g.77885771C>A	ENSP00000346151:p.Leu512Phe		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463207	0.63513	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.93	5.05	0.67936	PDZ/DHR/GLGF (1);	0.000000	0.30630	U	0.009211	T	0.64427	0.2597	M	0.82193	2.58	0.80722	D	1	D;P;D;D;D;P	0.89917	1.0;0.888;0.996;0.996;1.0;0.788	D;D;D;D;D;P	0.91635	0.999;0.99;0.997;0.997;0.999;0.73	T	0.68644	-0.5354	10	0.87932	D	0	.	9.1866	0.37174	0.1467:0.7811:0.0:0.0721	.	349;344;512;512;512;512	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	F	512;512;512;512;344;349	ENSP00000405766:L512F;ENSP00000346151:L512F;ENSP00000428389:L512F;ENSP00000441584:L344F;ENSP00000441603:L349F	ENSP00000346151:L512F	L	-	3	2	MAGI2	77723707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.181000	0.42547	1.507000	0.48752	0.555000	0.69702	TTG		0.483	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		A	77885771	C	A	77885771	3	1	556	1	0	0	0	0	1	0	0	0	9193	709	25	4	2883	4	MAGI2	7	77885771	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08		77885771	81252892	25	30057											
EPPK1	83481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144943012	144943012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr8:144943012C>T	ENST00000525985.1	-	2	4481	c.4410G>A	c.(4408-4410)tgG>tgA	p.W1470*				P58107	EPIPL_HUMAN	epiplakin 1	1470						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.W1470*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCAGCAGGTCCCAGAGTGACA	0.652																																																1	Substitution - Nonsense(1)	kidney(1)											35	39	38					8																	144943012		2191	4281	6472	SO:0001587	stop_gained	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4410G>A	8.37:g.144943012C>T	ENSP00000436337:p.Trp1470*		Q76E58|Q9NSU9	Nonsense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	42	9.659326	0.99231	.	.	ENSG00000227184	ENST00000525985	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	14.5162	0.67821	0.0:1.0:0.0:0.0	.	.	.	.	X	1470	.	ENSP00000436337:W1470X	W	-	3	0	EPPK1	145015000	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	5.802000	0.69122	2.278000	0.76064	0.591000	0.81541	TGG		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		T	144943012	C	T	144943012	4	4	556	1	0	0	0	0	0	1	0	0	5192	624	22	2	2856	2	EPPK1	8	144943012	Nonsense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08		144943012	1421010	26	30058											
NDUFB6	4712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32571039	32571039	+	Silent	SNP	T	T	C	rs146518353	byFrequency	TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr9:32571039T>C	ENST00000379847.3	-	2	293	c.192A>G	c.(190-192)gtA>gtG	p.V64V	NDUFB6_ENST00000350021.2_Silent_p.V64V	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	64					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 membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.V64V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		TCTTTTTGTATACCCCATGGA	0.338													T|||	2	0.000399361	0.0	0.0	5008	,	,		17089	0.002		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											45	44	45					9																	32571039		2203	4294	6497	SO:0001819	synonymous_variant	4712			AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"Mitochondrial respiratory chain complex / Complex I"	7701	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase beta subunit, 6", "NADH-ubiquinone oxidoreductase B17 subunit", "complex I, mitochondrial respiratory chain, B17 subunit"	603322	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.192A>G	9.37:g.32571039T>C			A8K0Y7|Q5VYT2|Q6IB84	Silent	SNP	ENST00000379847.3	37	CCDS6528.1																																																																																				0.338	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052001.1	NM_002493		C	32571039	T	C	32571039	2	2	556	1	0	0	0	0	0	0	0	1	10287	1393	49	3		3	NDUFB6	9	32571039	Silent	SNP	T	TCGA-CJ-6032-01A-11D-1669-08		32571039	108642392	27	30059											
OR1L1	26737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125424692	125424692	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr9:125424692G>C	ENST00000373686.1	+	1	848	c.848G>C	c.(847-849)gGa>gCa	p.G283A	OR1L1_ENST00000309623.1_Missense_Mutation_p.G233A			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G283A(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCAGCTGCTGGAAAGCGTAAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											172	172	172					9																	125424692		2203	4300	6503	SO:0001583	missense	26737				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.848G>C	9.37:g.125424692G>C	ENSP00000362790:p.Gly283Ala		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37		.	.	.	.	.	.	.	.	.	.	G	13.32	2.203172	0.38905	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.00285	8.3;8.3	3.26	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	M	0.82517	2.595	0.09310	N	1	D	0.71674	0.998	D	0.75484	0.986	T	0.46992	-0.9151	9	0.87932	D	0	.	9.9154	0.41430	0.1151:0.0:0.8849:0.0	.	283	Q8NH94	OR1L1_HUMAN	A	283;233	ENSP00000362790:G283A;ENSP00000310773:G233A	ENSP00000310773:G233A	G	+	2	0	OR1L1	124464513	0.837000	0.29446	0.407000	0.26434	0.076000	0.17211	2.878000	0.48515	1.801000	0.52704	0.313000	0.20887	GGA		0.428	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				C	125424692	G	C	125424692	3	2	556	1	0	0	0	0	1	0	0	0	10965	1174	41	4	700	4	OR1L1	9	125424692	Missense_Mutation	SNP	G	TCGA-CJ-6032-01A-11D-1669-08	92853653	125424692	15788739	28	30060											
QSER1	79832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32953804	32953804	+	Silent	SNP	C	C	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr11:32953804C>T	ENST00000399302.2	+	4	948	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	QSER1_ENST00000527788.1_Silent_p.L205L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	205	Ser-rich.							p.L205L(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCAGGCACAACTGACTGGTTC	0.408																																																1	Substitution - coding silent(1)	kidney(1)											75	69	71					11																	32953804		1896	4110	6006	SO:0001819	synonymous_variant	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.613C>T	11.37:g.32953804C>T			Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	CCDS41631.1																																																																																				0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		T	32953804	C	T	32953804	2	4	556	1	0	0	0	0	0	0	0	1	12888	564	20	2		2	QSER1	11	32953804	Silent	SNP	C	TCGA-CJ-6032-01A-11D-1669-08		32953804	102052712	29	30061											
MS4A6A	64231	broad.mit.edu;hgsc.bcm.edu	37	11	59949129	59949129	+	Silent	SNP	T	T	C			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr11:59949129T>C	ENST00000530839.1	-	3	564	c.72A>G	c.(70-72)gcA>gcG	p.A24A	MS4A6A_ENST00000412309.2_Silent_p.A52A|MS4A6A_ENST00000528851.1_Silent_p.A24A|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000323961.3_Silent_p.A24A|MS4A6A_ENST00000533023.1_Silent_p.A24A|MS4A6A_ENST00000532169.1_Silent_p.A24A|MS4A6A_ENST00000426738.2_Silent_p.A24A|MS4A6A_ENST00000420732.2_Silent_p.A24A|MS4A6A_ENST00000529054.1_Silent_p.A52A	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	24						integral component of membrane (GO:0016021)		p.A24A(1)|p.A52A(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGGGTTTCTCTGCTTGGGAGA	0.438																																																2	Substitution - coding silent(2)	kidney(2)											215	192	200					11																	59949129		2201	4295	6496	SO:0001819	synonymous_variant	64231			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.72A>G	11.37:g.59949129T>C			A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	ENST00000530839.1	37	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	T	6.364	0.435293	0.12045	.	.	ENSG00000110077	ENST00000533989	.	.	.	4.72	3.57	0.40892	.	.	.	.	.	T	0.27313	0.0670	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.13415	-1.0510	4	.	.	.	.	5.5935	0.17313	0.0:0.1267:0.0:0.8733	.	.	.	.	R	4	.	.	Q	-	2	0	MS4A6A	59705705	0.008000	0.16893	0.009000	0.14445	0.005000	0.04900	0.335000	0.19806	1.973000	0.57446	0.533000	0.62120	CAG		0.438	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			C	59949129	T	C	59949129	2	2	556	1	0	0	0	0	0	0	0	1	9866	1567	55	3		3	MS4A6A	11	59949129	Silent	SNP	T	TCGA-CJ-6032-01A-11D-1669-08	26995325	59949129	75057387	30	30062											
TYR	7299	hgsc.bcm.edu;ucsc.edu	37	11	89017963	89017964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr11:89017963_89017964insG	ENST00000263321.5	+	4	1709_1710	c.1207_1208insG	c.(1207-1209)aggfs	p.R403fs		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	403			R -> S (in OCA1A and OCA1B). {ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:15146472, ECO:0000269|PubMed:1642278}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GTGGCTCCGAAGGCACCGTCCT	0.371																																																0			GRCh37	CD056206	TYR	D																																				SO:0001589	frameshift_variant	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1209dupG	11.37:g.89017965_89017965dupG	ENSP00000263321:p.Arg403fs		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Frame_Shift_Ins	INS	ENST00000263321.5	37	CCDS8284.1																																																																																				0.371	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		G	89017964	-	G	89017963	7	5	556	1	0	1	1	0	0	0	0	0	16818	63	3	0	1221	0	TYR	11	89017963	Frame_Shift_Ins	INS	-	TCGA-CJ-6032-01A-11D-1669-08	29068834	89017963	45988553	31	30063											
PVRL1	5818	broad.mit.edu	37	11	119510667	119510667	+	Silent	SNP	G	G	T	rs368086348		TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr11:119510667G>T	ENST00000341398.2	-	6	1058	c.1059C>A	c.(1057-1059)acC>acA	p.T353T	RP11-196E1.3_ENST00000601999.1_RNA|RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	9					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.T353T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		ACACGGCCACGGTGCCCGCCA	0.597																																																1	Substitution - coding silent(1)	kidney(1)											33	36	35					11																	119510667		2199	4295	6494	SO:0001819	synonymous_variant	5818			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000341398.2:c.1059C>A	11.37:g.119510667G>T			O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	ENST00000341398.2	37	CCDS8425.1																																																																																				0.597	PVRL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388230.1			T	119510667	G	T	119510667	2	4	556	1	0	0	0	0	0	0	0	1	12845	1103	39	4		4	PVRL1	11	119510667	Silent	SNP	G	TCGA-CJ-6032-01A-11D-1669-08	30492704	119510667	15495849	32	30064											
ABCC9	10060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21991035	21991035	+	Silent	SNP	T	T	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr12:21991035T>A	ENST00000261201.4	-	28	3542	c.3543A>T	c.(3541-3543)ggA>ggT	p.G1181G	ABCC9_ENST00000345162.2_Silent_p.G1145G|ABCC9_ENST00000261200.4_Silent_p.G1181G|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1181	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.G1181G(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TGGTGGTGAGTCCTTCTGCTG	0.413																																																2	Substitution - coding silent(2)	kidney(2)											122	119	120					12																	21991035		2203	4300	6503	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3543A>T	12.37:g.21991035T>A			O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		A	21991035	T	A	21991035	2	1	556	1	0	0	0	0	0	0	0	1	59	1654	58	5		5	ABCC9	12	21991035	Silent	SNP	T	TCGA-CJ-6032-01A-11D-1669-08		21991035	111860860	33	30065											
FGD4	121512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32786521	32786521	+	Silent	SNP	T	T	G			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr12:32786521T>G	ENST00000427716.2	+	15	2224	c.1800T>G	c.(1798-1800)ctT>ctG	p.L600L	FGD4_ENST00000266482.3_Silent_p.L352L|FGD4_ENST00000546442.1_Silent_p.L507L|FGD4_ENST00000534526.2_Silent_p.L737L|FGD4_ENST00000531134.1_Silent_p.L685L|FGD4_ENST00000525053.1_Silent_p.L712L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	600					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L600L(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGCTCAACTTGAATATGATG	0.303																																																1	Substitution - coding silent(1)	kidney(1)											89	89	89					12																	32786521		2203	4300	6503	SO:0001819	synonymous_variant	121512			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1800T>G	12.37:g.32786521T>G			Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	CCDS8727.1																																																																																				0.303	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		G	32786521	T	G	32786521	2	3	556	1	0	0	0	0	0	0	0	1	5837	1799	63	5		5	FGD4	12	32786521	Silent	SNP	T	TCGA-CJ-6032-01A-11D-1669-08	10795486	32786521	101065374	34	30066											
C12orf40	283461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	40041619	40041619	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr12:40041619T>A	ENST00000324616.5	+	6	564	c.410T>A	c.(409-411)aTg>aAg	p.M137K	C12orf40_ENST00000405531.3_Missense_Mutation_p.M137K|C12orf40_ENST00000398716.1_Missense_Mutation_p.M60K	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	137								p.M137K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCATATAGTATGCTTCACCCT	0.328																																																1	Substitution - Missense(1)	kidney(1)											85	80	82					12																	40041619		1844	4092	5936	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.410T>A	12.37:g.40041619T>A	ENSP00000317671:p.Met137Lys		B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	T	1.634	-0.518301	0.04171	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.46819	0.86;0.87	3.98	1.51	0.23008	.	0.879697	0.09782	N	0.756539	T	0.30293	0.0760	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.25187	-1.0139	10	0.62326	D	0.03	.	5.0315	0.14411	0.1617:0.0989:0.0:0.7395	.	137	Q86WS4	CL040_HUMAN	K	137;60;137	ENSP00000383897:M137K;ENSP00000317671:M137K	ENSP00000317671:M137K	M	+	2	0	C12orf40	38327886	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.360000	0.07622	0.012000	0.14892	-1.481000	0.00988	ATG		0.328	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		A	40041619	T	A	40041619	3	1	556	1	0	0	0	0	1	0	0	0	1688	1464	51	5	432	5	C12orf40	12	40041619	Missense_Mutation	SNP	T	TCGA-CJ-6032-01A-11D-1669-08	7255098	40041619	93810276	35	30067											
CNTN1	1272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	41422971	41422971	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr12:41422971G>A	ENST00000551295.2	+	23	3047	c.2930G>A	c.(2929-2931)cGc>cAc	p.R977H	CNTN1_ENST00000347616.1_Missense_Mutation_p.R977H|CNTN1_ENST00000348761.2_Missense_Mutation_p.R966H	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	977	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R977H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTGGAGGTTCGCGCGCACAGT	0.448																																																1	Substitution - Missense(1)	kidney(1)											229	213	218					12																	41422971		2203	4300	6503	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2930G>A	12.37:g.41422971G>A	ENSP00000447006:p.Arg977His		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990461	0.74589	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.46063	0.88;0.88;0.88	5.18	5.18	0.71444	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.71027	-0.4711	10	0.66056	D	0.02	.	19.0769	0.93167	0.0:0.0:1.0:0.0	.	966;977	Q12860-2;Q12860	.;CNTN1_HUMAN	H	977;977;966	ENSP00000447006:R977H;ENSP00000325660:R977H;ENSP00000261160:R966H	ENSP00000325660:R977H	R	+	2	0	CNTN1	39709238	1.000000	0.71417	0.996000	0.52242	0.298000	0.27526	8.779000	0.91792	2.588000	0.87417	0.591000	0.81541	CGC		0.448	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		A	41422971	G	A	41422971	3	1	556	1	0	0	0	0	1	0	0	0	3642	1087	38	1	3016	1	CNTN1	12	41422971	Missense_Mutation	SNP	G	TCGA-CJ-6032-01A-11D-1669-08	1381352	41422971	92428924	36	30068											
TRPC4	7223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	38357212	38357212	+	Missense_Mutation	SNP	C	C	T	rs140628205		TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr13:38357212C>T	ENST00000379705.3	-	2	1116	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	TRPC4_ENST00000379681.3_Missense_Mutation_p.E87K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E87K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E87K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E87K|TRPC4_ENST00000426868.2_Missense_Mutation_p.E87K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E87K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E87K|TRPC4_ENST00000338947.5_Missense_Mutation_p.E87K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	87	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.E87K(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AAGAGTAGTTCgatgagctcc	0.363																																																2	Substitution - Missense(2)	kidney(2)						C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	72	72	72		259,259,259,259,259,259	6	1	13	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	TRPC4	NM_001135955.1,NM_001135956.1,NM_001135957.1,NM_001135958.1,NM_003306.1,NM_016179.2	56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	87/894,87/829,87/837,87/805,87/983,87/978	38357212	1,13005	2203	4300	6503	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.259G>A	13.37:g.38357212C>T	ENSP00000369027:p.Glu87Lys		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427679	0.96131	2.27E-4	0.0	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07	6.01	6.01	0.97437	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	N	0.13272	0.32	0.80722	D	1	P;D;D;D;D;D	0.76494	0.939;0.994;0.999;0.999;0.978;0.992	P;P;D;D;P;P	0.76575	0.491;0.769;0.988;0.988;0.629;0.852	T	0.69647	-0.5089	10	0.87932	D	0	-27.6247	20.5211	0.99222	0.0:1.0:0.0:0.0	.	87;87;87;87;87;87	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	K	87	ENSP00000369027:E87K;ENSP00000369003:E87K;ENSP00000342580:E87K;ENSP00000369001:E87K;ENSP00000410133:E87K;ENSP00000348025:E87K;ENSP00000351264:E87K;ENSP00000368995:E87K;ENSP00000414316:E87K	ENSP00000342580:E87K	E	-	1	0	TRPC4	37255212	1.000000	0.71417	0.972000	0.41901	0.933000	0.57130	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	GAA		0.363	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		T	38357212	C	T	38357212	3	4	556	1	0	0	0	0	1	0	0	0	16585	893	31	1	2729	1	TRPC4	13	38357212	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08		38357212	76812666	37	30069											
AKAP6	9472	broad.mit.edu	37	14	33243070	33243070	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr14:33243070C>T	ENST00000280979.4	+	12	3729	c.3559C>T	c.(3559-3561)Cgt>Tgt	p.R1187C	AKAP6_ENST00000557272.1_Missense_Mutation_p.R1187C	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1187					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.R1187C(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTGGCAAACACGTCTACAAAA	0.413																																					Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - Missense(1)	kidney(1)											71	68	69					14																	33243070		2203	4300	6503	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3559C>T	14.37:g.33243070C>T	ENSP00000280979:p.Arg1187Cys		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305101	0.60305	.	.	ENSG00000151320	ENST00000280979;ENST00000557272	T;T	0.37235	1.21;1.21	5.28	2.21	0.28008	.	0.069830	0.56097	D	0.000025	T	0.52725	0.1752	L	0.60455	1.87	0.45108	D	0.998127	D	0.89917	1.0	D	0.64410	0.925	T	0.59289	-0.7482	10	0.87932	D	0	-6.307	14.9331	0.70933	0.4586:0.5414:0.0:0.0	.	1187	Q13023	AKAP6_HUMAN	C	1187	ENSP00000280979:R1187C;ENSP00000451247:R1187C	ENSP00000280979:R1187C	R	+	1	0	AKAP6	32312821	0.126000	0.22350	0.995000	0.50966	0.974000	0.67602	0.484000	0.22308	0.691000	0.31592	0.591000	0.81541	CGT		0.413	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		T	33243070	C	T	33243070	3	4	556	1	0	0	0	0	1	0	0	0	455	536	19	1	3601	1	AKAP6	14	33243070	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08		33243070	74106470	38	30070											
PSMA6	5687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	35761756	35761756	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr14:35761756T>C	ENST00000261479.4	+	1	194	c.74T>C	c.(73-75)gTa>gCa	p.V25A	KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000553809.1_Missense_Mutation_p.V25A|PSMA6_ENST00000556506.1_Missense_Mutation_p.V25A|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000540871.1_Intron|AL121594.1_ENST00000578587.1_RNA	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	25					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 NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|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)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)	p.V25A(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CTCTACCAAGTAGGTGAGTGA	0.567																																																1	Substitution - Missense(1)	kidney(1)											94	90	91					14																	35761756		2203	4300	6503	SO:0001583	missense	5687			X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"Proteasome (prosome, macropain) subunits"	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.74T>C	14.37:g.35761756T>C	ENSP00000261479:p.Val25Ala		B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	T	34	5.377067	0.95945	.	.	ENSG00000100902	ENST00000261479;ENST00000553809;ENST00000556506	T;T;T	0.58652	0.32;0.32;0.32	5.87	5.87	0.94306	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	D	0.85093	0.5618	H	0.98612	4.28	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90634	0.4569	10	0.87932	D	0	-4.7662	14.4865	0.67622	0.0:0.0:0.0:1.0	.	25	P60900	PSA6_HUMAN	A	25	ENSP00000261479:V25A;ENSP00000452603:V25A;ENSP00000450528:V25A	ENSP00000261479:V25A	V	+	2	0	PSMA6	34831507	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.280000	0.72626	2.242000	0.73789	0.482000	0.46254	GTA		0.567	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			C	35761756	T	C	35761756	3	2	556	1	0	0	0	0	1	0	0	0	12676	1638	57	3	76	3	PSMA6	14	35761756	Missense_Mutation	SNP	T	TCGA-CJ-6032-01A-11D-1669-08	2518686	35761756	71587784	39	30071											
FAM96A	84191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	64380992	64380992	+	Silent	SNP	C	C	A			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr15:64380992C>A	ENST00000300030.3	-	2	432	c.183G>T	c.(181-183)gtG>gtT	p.V61V	FAM96A_ENST00000559950.1_Silent_p.V61V|FAM96A_ENST00000557835.1_Silent_p.V61V|FAM96A_ENST00000380290.3_Silent_p.V61V	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	61					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.V61V(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TTTCCGAGACCACTTCCAGTT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											83	76	79					15																	64380992		2203	4300	6503	SO:0001819	synonymous_variant	84191				CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.183G>T	15.37:g.64380992C>A			A6NKS1|B2R5F8|B7Z8Z5	Silent	SNP	ENST00000300030.3	37	CCDS10189.1																																																																																				0.388	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		A	64380992	C	A	64380992	2	1	556	1	0	0	0	0	0	0	0	1	5656	581	21	4		4	FAM96A	15	64380992	Silent	SNP	C	TCGA-CJ-6032-01A-11D-1669-08		64380992	38150400	40	30072											
ABHD2	11057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89731484	89731484	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr15:89731484C>G	ENST00000352732.5	+	8	1396	c.876C>G	c.(874-876)agC>agG	p.S292R	ABHD2_ENST00000355100.3_Missense_Mutation_p.S292R|ABHD2_ENST00000565973.1_Missense_Mutation_p.S292R	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	292					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.S292R(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CGGACTTGAGCCGGCTCTACA	0.532																																					Colon(11;252 417 24570 33239 41878)											1	Substitution - Missense(1)	kidney(1)											118	102	108					15																	89731484		2200	4299	6499	SO:0001583	missense	11057			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.876C>G	15.37:g.89731484C>G	ENSP00000268129:p.Ser292Arg		Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406860	0.62399	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.62498	0.02;0.02	5.59	3.71	0.42584	Alpha/beta hydrolase fold-1 (1);	0.037406	0.85682	D	0.000000	T	0.53834	0.1821	L	0.51422	1.61	0.58432	D	0.999998	B	0.16802	0.019	B	0.16722	0.016	T	0.50898	-0.8773	10	0.30854	T	0.27	-3.6798	11.4168	0.49956	0.0:0.8556:0.0:0.1444	.	292	P08910	ABHD2_HUMAN	R	292	ENSP00000268129:S292R;ENSP00000347217:S292R	ENSP00000268129:S292R	S	+	3	2	ABHD2	87532488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.783000	0.55409	1.357000	0.45904	0.650000	0.86243	AGC		0.532	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			G	89731484	C	G	89731484	3	3	556	1	0	0	0	0	1	0	0	0	82	738	26	4	898	4	ABHD2	15	89731484	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08	25350492	89731484	12799908	41	30073											
CACNA1H	8912	broad.mit.edu;hgsc.bcm.edu	37	16	1260841	1260841	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr16:1260841A>T	ENST00000348261.5	+	21	4341	c.4093A>T	c.(4093-4095)Aac>Tac	p.N1365Y	CACNA1H_ENST00000358590.4_Missense_Mutation_p.N1365Y|CACNA1H_ENST00000565831.1_Missense_Mutation_p.N1365Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1365					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.N1365Y(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GAGCAGCTGGAACCTGCTGGA	0.677																																																2	Substitution - Missense(2)	kidney(2)											63	72	69					16																	1260841		2190	4282	6472	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4093A>T	16.37:g.1260841A>T	ENSP00000334198:p.Asn1365Tyr		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680450	0.88542	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.99259	-5.64;-5.64	4.24	4.24	0.50183	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.96576	3.845	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.995;0.999;0.999	D	0.97812	1.0251	10	0.87932	D	0	.	12.9429	0.58357	1.0:0.0:0.0:0.0	.	106;106;106;1365;1365	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	Y	1365	ENSP00000334198:N1365Y;ENSP00000351401:N1365Y	ENSP00000334198:N1365Y	N	+	1	0	CACNA1H	1200842	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.080000	0.76837	1.913000	0.55393	0.478000	0.44815	AAC		0.677	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		T	1260841	A	T	1260841	3	4	556	1	0	0	0	0	1	0	0	0	2547	246	9	5	4171	5	CACNA1H	16	1260841	Missense_Mutation	SNP	A	TCGA-CJ-6032-01A-11D-1669-08		1260841	89093912	42	30074											
TUSC5	286753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1198811	1198811	+	Silent	SNP	C	C	T	rs529434651		TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr17:1198811C>T	ENST00000333813.3	+	2	753	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	138					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)		p.N138N(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AACAGGGCAACGTGGACGGCG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18642	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											103	120	114					17																	1198811		2087	4221	6308	SO:0001819	synonymous_variant	286753			AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.414C>T	17.37:g.1198811C>T			A6NMK4	Silent	SNP	ENST00000333813.3	37	CCDS42225.1																																																																																				0.632	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		T	1198811	C	T	1198811	2	4	556	1	0	0	0	0	0	0	0	1	16784	535	19	1		1	TUSC5	17	1198811	Silent	SNP	C	TCGA-CJ-6032-01A-11D-1669-08		1198811	79996399	43	30075											
ALKBH5	54890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18111566	18111566	+	Silent	SNP	C	C	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr17:18111566C>T	ENST00000399138.4	+	4	1046	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	ALKBH5_ENST00000541285.1_Silent_p.N6N	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	347					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)	p.N347N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					AGGAAGAGAACCGGCGCTCGG	0.602																																					Ovarian(166;154 1953 40235 46283 46309)											1	Substitution - coding silent(1)	kidney(1)											66	75	72					17																	18111566		1988	4159	6147	SO:0001819	synonymous_variant	54890			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.1041C>T	17.37:g.18111566C>T			B4DVJ4|D3DXC6|Q9NXD6	Silent	SNP	ENST00000399138.4	37	CCDS42272.1																																																																																				0.602	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		T	18111566	C	T	18111566	2	4	556	1	0	0	0	0	0	0	0	1	530	506	18	2		2	ALKBH5	17	18111566	Silent	SNP	C	TCGA-CJ-6032-01A-11D-1669-08	16912755	18111566	63083644	44	30076											
POLDIP2	147007	hgsc.bcm.edu	37	17	26684392	26684392	+	5'Flank	SNP	T	T	C	rs55887815		TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr17:26684392T>C	ENST00000292114.3	+	0	0				TMEM199_ENST00000395404.3_5'Flank|TMEM199_ENST00000509083.1_5'Flank|POLDIP2_ENST00000540200.1_Splice_Site_p.K27R|POLDIP2_ENST00000003607.4_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACAGAGCGGCTTTGCCACCGG	0.761																																																0													4	4	4					17																	26684392		1481	3473	4954	SO:0001631	upstream_gene_variant	26073			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684392T>C	Exception_encountered			Missense_Mutation	SNP	ENST00000292114.3	37	CCDS11228.1																																																																																				0.761	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		C	26684392	T	C	26684392	1	2	556	0	1	0	0	0	0	0	0	0	12196	1609	56	3		3	POLDIP2	17	26684392	5'Flank	SNP	T	TCGA-CJ-6032-01A-11D-1669-08	8572826	26684392	54510818	45	30077											
KRTAP1-3	81850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39191063	39191063	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr17:39191063C>G	ENST00000344363.5	-	1	44	c.11G>C	c.(10-12)tGc>tCc	p.C4S		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	4						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.C4S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGCAGCAGGTCAT	0.572																																																1	Substitution - Missense(1)	kidney(1)											57	65	63					17																	39191063		1969	4162	6131	SO:0001583	missense	81850			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.11G>C	17.37:g.39191063C>G	ENSP00000344420:p.Cys4Ser		Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433002	0.25813	.	.	ENSG00000221880	ENST00000344363	T	0.48522	0.81	4.44	2.33	0.28932	.	.	.	.	.	T	0.54143	0.1840	.	.	.	0.31425	N	0.673811	D	0.54207	0.965	P	0.52823	0.71	T	0.60974	-0.7156	8	0.87932	D	0	.	9.3212	0.37966	0.4305:0.5695:0.0:0.0	.	4	Q8IUG1	KRA13_HUMAN	S	4	ENSP00000344420:C4S	ENSP00000344420:C4S	C	-	2	0	KRTAP1-3	36444589	0.782000	0.28689	0.976000	0.42696	0.295000	0.27426	1.208000	0.32345	0.711000	0.32018	0.655000	0.94253	TGC		0.572	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			G	39191063	C	G	39191063	3	3	556	1	0	0	0	0	1	0	0	0	8505	710	25	4	496	4	KRTAP1-3	17	39191063	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08	12506671	39191063	42004147	46	30078											
LIPE	3991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42907058	42907058	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr19:42907058C>T	ENST00000244289.4	-	9	2944	c.2668G>A	c.(2668-2670)Gac>Aac	p.D890N	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	890					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.D890N(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCGGGGGTGTCCGACGACGTC	0.607																																																1	Substitution - Missense(1)	kidney(1)											88	71	77					19																	42907058		2203	4300	6503	SO:0001583	missense	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2668G>A	19.37:g.42907058C>T	ENSP00000244289:p.Asp890Asn		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261603	0.23051	.	.	ENSG00000079435	ENST00000244289	T	0.03330	3.97	4.85	1.5	0.22942	.	1.521020	0.04023	N	0.300158	T	0.05914	0.0154	L	0.54323	1.7	0.09310	N	1	P	0.39665	0.682	B	0.39706	0.307	T	0.36163	-0.9759	10	0.52906	T	0.07	-12.0486	4.3896	0.11334	0.0:0.6097:0.189:0.2013	.	890	Q05469	LIPS_HUMAN	N	890	ENSP00000244289:D890N	ENSP00000244289:D890N	D	-	1	0	LIPE	47598898	0.000000	0.05858	0.001000	0.08648	0.187000	0.23431	0.217000	0.17603	0.727000	0.32360	0.591000	0.81541	GAC		0.607	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		T	42907058	C	T	42907058	3	4	556	1	0	0	0	0	1	0	0	0	8823	855	30	2	570	2	LIPE	19	42907058	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08		42907058	16221925	47	30079											
ZNF528	84436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52918551	52918551	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr19:52918551A>G	ENST00000360465.3	+	7	872	c.446A>G	c.(445-447)gAa>gGa	p.E149G	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E149G(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCACCGCTTGAAAAAATTTCT	0.358																																																1	Substitution - Missense(1)	kidney(1)											37	40	39					19																	52918551		2200	4299	6499	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.446A>G	19.37:g.52918551A>G	ENSP00000353652:p.Glu149Gly		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.308139	0.23821	.	.	ENSG00000167555	ENST00000360465	T	0.05447	3.44	2.15	2.15	0.27550	.	.	.	.	.	T	0.04815	0.0130	N	0.20986	0.625	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.35051	-0.9804	9	0.72032	D	0.01	.	6.1476	0.20294	1.0:0.0:0.0:0.0	.	149	Q3MIS6	ZN528_HUMAN	G	149	ENSP00000353652:E149G	ENSP00000353652:E149G	E	+	2	0	ZNF528	57610363	0.018000	0.18449	0.002000	0.10522	0.023000	0.10783	1.809000	0.38922	0.986000	0.38683	0.477000	0.44152	GAA		0.358	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		G	52918551	A	G	52918551	3	3	556	1	0	0	0	0	1	0	0	0	17974	246	9	3	460	3	ZNF528	19	52918551	Missense_Mutation	SNP	A	TCGA-CJ-6032-01A-11D-1669-08	10011493	52918551	6210432	48	30080											
NAPB	63908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	23377799	23377799	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chr20:23377799C>G	ENST00000377026.4	-	3	290	c.205G>C	c.(205-207)Gcc>Ccc	p.A69P	NAPB_ENST00000398425.3_5'UTR|NAPB_ENST00000432543.2_Intron|NAPB_ENST00000472855.1_Intron	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	69					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.A69P(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					TGGAGCTTGGCTGCCTGACAA	0.502																																																1	Substitution - Missense(1)	kidney(1)											95	76	83					20																	23377799		2203	4300	6503	SO:0001583	missense	63908			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.205G>C	20.37:g.23377799C>G	ENSP00000366225:p.Ala69Pro		B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	ENST00000377026.4	37	CCDS13152.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456176	0.96223	.	.	ENSG00000125814	ENST00000377026;ENST00000431864	T	0.56776	0.44	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.89728	0.3924	10	0.87932	D	0	-19.6617	18.3684	0.90399	0.0:1.0:0.0:0.0	.	69;69	B4DIV0;Q9H115	.;SNAB_HUMAN	P	69;26	ENSP00000366225:A69P	ENSP00000366225:A69P	A	-	1	0	NAPB	23325799	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.640000	0.83355	2.582000	0.87167	0.563000	0.77884	GCC		0.502	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080		G	23377799	C	G	23377799	3	3	556	1	0	0	0	0	1	0	0	0	10164	797	28	4	727	4	NAPB	20	23377799	Missense_Mutation	SNP	C	TCGA-CJ-6032-01A-11D-1669-08		23377799	39647721	49	30081											
KLHL34	257240	broad.mit.edu;hgsc.bcm.edu	37	X	21674907	21674907	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chrX:21674907G>T	ENST00000379499.2	-	1	1541	c.1000C>A	c.(1000-1002)Cag>Aag	p.Q334K		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	334						extracellular space (GO:0005615)		p.Q334K(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						ACCACGTTCTGGGTGAGCTCC	0.647																																																1	Substitution - Missense(1)	kidney(1)											44	19	27					X																	21674907		2191	4290	6481	SO:0001583	missense	257240			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1000C>A	X.37:g.21674907G>T	ENSP00000368813:p.Gln334Lys			Missense_Mutation	SNP	ENST00000379499.2	37	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	G	7.035	0.561448	0.13498	.	.	ENSG00000185915	ENST00000379499	T	0.66099	-0.19	4.93	4.93	0.64822	Kelch-type beta propeller (1);	0.169717	0.28001	N	0.016989	T	0.31765	0.0807	N	0.04090	-0.28	0.35440	D	0.79476	B	0.26744	0.158	B	0.17433	0.018	T	0.40757	-0.9546	10	0.05833	T	0.94	.	9.7085	0.40231	0.0:0.0:0.7769:0.223	.	334	Q8N239	KLH34_HUMAN	K	334	ENSP00000368813:Q334K	ENSP00000368813:Q334K	Q	-	1	0	KLHL34	21584828	0.996000	0.38824	0.994000	0.49952	0.941000	0.58515	3.869000	0.56062	2.276000	0.75962	0.422000	0.28245	CAG		0.647	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		T	21674907	G	T	21674907	3	4	556	1	0	0	0	0	1	0	0	0	8389	1357	47	4	938	4	KLHL34	23	21674907	Missense_Mutation	SNP	G	TCGA-CJ-6032-01A-11D-1669-08		21674907	133595653	50	30082											
CYSLTR1	10800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	77528390	77528390	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chrX:77528390G>T	ENST00000373304.3	-	3	1146	c.854C>A	c.(853-855)gCa>gAa	p.A285E		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	285					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)	p.A285E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	ACAATTGGATGCAGCCAGAGA	0.418																																																1	Substitution - Missense(1)	kidney(1)											67	65	66					X																	77528390		2203	4299	6502	SO:0001583	missense	10800			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.854C>A	X.37:g.77528390G>T	ENSP00000362401:p.Ala285Glu		B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852922	0.71719	.	.	ENSG00000173198	ENST00000373304	T	0.31769	1.48	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.054577	0.64402	D	0.000001	T	0.53158	0.1779	M	0.76170	2.325	0.53005	D	0.999964	D	0.89917	1.0	D	0.91635	0.999	T	0.54655	-0.8261	10	0.42905	T	0.14	.	12.7439	0.57268	0.0:0.0:1.0:0.0	.	285	Q9Y271	CLTR1_HUMAN	E	285	ENSP00000362401:A285E	ENSP00000362401:A285E	A	-	2	0	CYSLTR1	77415046	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.342000	0.97044	1.855000	0.53841	0.468000	0.43344	GCA		0.418	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			T	77528390	G	T	77528390	3	4	556	1	0	0	0	0	1	0	0	0	4203	1319	46	4	163	4	CYSLTR1	23	77528390	Missense_Mutation	SNP	G	TCGA-CJ-6032-01A-11D-1669-08	55853483	77528390	77742170	51	30083											
TKTL1	8277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153524232	153524232	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6032-01A-11D-1669-08	TCGA-CJ-6032-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8c9823f0-69af-474d-adb7-5ec8ef4e5af7	d060b91c-6151-496a-bd87-d88c1fae20ea	g.chrX:153524232G>C	ENST00000369915.3	+	1	209	c.20G>C	c.(19-21)aGg>aCg	p.R7T	TKTL1_ENST00000217905.7_5'UTR|TEX28_ENST00000369926.1_5'Flank	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	7					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.R7T(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGAGGCGAGGGCTGAGTTC	0.612																																																1	Substitution - Missense(1)	kidney(1)											90	80	84					X																	153524232		2203	4300	6503	SO:0001583	missense	8277			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.20G>C	X.37:g.153524232G>C	ENSP00000358931:p.Arg7Thr		A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	9.862	1.196463	0.22037	.	.	ENSG00000007350	ENST00000369915	T	0.28895	1.59	4.1	0.121	0.14695	.	1.850980	0.03044	N	0.153646	T	0.12860	0.0312	N	0.08118	0	0.09310	N	0.999999	B;B	0.14012	0.009;0.009	B;B	0.08055	0.003;0.003	T	0.16837	-1.0389	10	0.02654	T	1	.	3.3015	0.06984	0.3438:0.0:0.4709:0.1853	.	7;7	B7Z7I0;P51854	.;TKTL1_HUMAN	T	7	ENSP00000358931:R7T	ENSP00000358931:R7T	R	+	2	0	TKTL1	153177426	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.110000	0.10824	-0.257000	0.09459	0.529000	0.55759	AGG		0.612	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		C	153524232	G	C	153524232	3	2	556	1	0	0	0	0	1	0	0	0	15940	1000	35	4	22	4	TKTL1	23	153524232	Missense_Mutation	SNP	G	TCGA-CJ-6032-01A-11D-1669-08	75995842	153524232	1746328	52	30084											
MXRA8	54587	broad.mit.edu	37	1	1289294	1289294	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr1:1289294T>A	ENST00000309212.6	-	9	1267	c.1237A>T	c.(1237-1239)Atc>Ttc	p.I413F	MXRA8_ENST00000477278.2_Missense_Mutation_p.I404F|MXRA8_ENST00000445648.2_Missense_Mutation_p.I419F|MXRA8_ENST00000342753.4_Missense_Mutation_p.I312F	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	413					establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.I413F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCTTCAGGATGTTGTTTTTG	0.642																																																1	Substitution - Missense(1)	kidney(1)											36	35	35					1																	1289294		2199	4296	6495	SO:0001583	missense	54587			BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"Immunoglobulin superfamily / V-set domain containing"	7542	protein-coding gene	gene with protein product	"limitrin"					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.1237A>T	1.37:g.1289294T>A	ENSP00000307887:p.Ile413Phe		B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	ENST00000309212.6	37	CCDS24.1	.	.	.	.	.	.	.	.	.	.	.	14.91	2.677617	0.47886	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.21361	2.03;2.09;2.01	3.85	2.68	0.31781	.	0.216427	0.37955	U	0.001862	T	0.41858	0.1177	M	0.72118	2.19	0.49687	D	0.999818	P;D;P;P	0.76494	0.845;0.999;0.944;0.906	B;D;P;B	0.83275	0.348;0.996;0.646;0.444	T	0.20940	-1.0260	10	0.72032	D	0.01	-13.3487	9.8531	0.41068	0.0:0.0:0.1723:0.8277	.	404;312;419;413	B3KTR6;B4DE34;Q9BRK3-2;Q9BRK3	.;.;.;MXRA8_HUMAN	F	413;404;312;419	ENSP00000307887:I413F;ENSP00000344998:I312F;ENSP00000399229:I419F	ENSP00000307887:I413F	I	-	1	0	MXRA8	1279157	1.000000	0.71417	0.995000	0.50966	0.502000	0.33828	3.884000	0.56175	0.459000	0.27016	0.459000	0.35465	ATC		0.642	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		A	1289294	T	A	1289294	3	1	557	1	0	0	0	0	1	0	0	0	10007	1464	51	5	99	5	MXRA8	1	1289294	Missense_Mutation	SNP	T	TCGA-CJ-6033-01A-11D-1669-08		1289294	247961327	1	30085											
NPPB	4879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11918768	11918768	+	Silent	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr1:11918768G>A	ENST00000376468.3	-	1	220	c.123C>T	c.(121-123)tcC>tcT	p.S41S		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	41					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.S41S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	CCTGTAACCCGGACGTTTCCA	0.622																																																1	Substitution - coding silent(1)	kidney(1)											65	76	73					1																	11918768		2203	4300	6503	SO:0001819	synonymous_variant	4879			BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"Endogenous ligands"	7940	protein-coding gene	gene with protein product		600295	"natriuretic peptide precursor B"			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.123C>T	1.37:g.11918768G>A			B0ZBE9|Q6FGY0|Q9P2Q7	Silent	SNP	ENST00000376468.3	37	CCDS140.1																																																																																				0.622	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		A	11918768	G	A	11918768	2	1	557	1	0	0	0	0	0	0	0	1	10594	1103	39	1		1	NPPB	1	11918768	Silent	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	10629474	11918768	237331853	2	30086											
AKR7L	246181	hgsc.bcm.edu	37	1	19597275	19597275	+	RNA	DEL	C	C	-	rs140586925	byFrequency	TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr1:19597275delC	ENST00000429712.1	-	0	488				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CACGCAGTGTCTCTTCCACCG	0.607													|||unknown(NO_COVERAGE)	155	0.0309505	0.0	0.0202	5008	,	,		18026	0.0476		0.0288	False		,,,				2504	0.0654															0										44,4222		0,44,2089	41	37	39			4.2	1	1	dbSNP_134	39	323,7931		9,305,3813	no	intergenic				9,349,5902	A1A1,A1R,RR		3.9133,1.0314,2.9313			19597275	367,12153	2203	4293	6496			246181					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597275delC			Q5U614	Frame_Shift_Del	DEL	ENST00000429712.1	37																																																																																					0.607	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		-	19597275	C	-	19597275	6	5	557	0	1	1	0	1	0	0	0	0	477	912	32	0		0	AKR7L	1	19597275	RNA	DEL	C	TCGA-CJ-6033-01A-11D-1669-08	7678507	19597275	229653346	3	30087											
MED18	54797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28661233	28661233	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr1:28661233C>G	ENST00000373842.4	+	3	588	c.379C>G	c.(379-381)Cat>Gat	p.H127D	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.H127D	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	127						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.H127D(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCATGGACCATGAGTTTGT	0.512																																																2	Substitution - Missense(2)	kidney(2)											146	138	141					1																	28661233		2203	4300	6503	SO:0001583	missense	54797			BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.379C>G	1.37:g.28661233C>G	ENSP00000362948:p.His127Asp		D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	37	CCDS322.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153719	0.78114	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.99	5.07	0.68467	Mediator complex, subunit Med18, metazoa/fungi (1);	0.092728	0.85682	D	0.000000	T	0.53238	0.1784	L	0.47716	1.5	0.31895	N	0.61671	D	0.53619	0.961	P	0.51701	0.677	T	0.63747	-0.6567	9	0.51188	T	0.08	-14.8997	15.4926	0.75619	0.1399:0.8601:0.0:0.0	.	127	Q9BUE0	MED18_HUMAN	D	127	.	ENSP00000362948:H127D	H	+	1	0	MED18	28533820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.713000	0.84693	1.510000	0.48803	0.655000	0.94253	CAT		0.512	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		G	28661233	C	G	28661233	3	3	557	1	0	0	0	0	1	0	0	0	9438	594	21	4	385	4	MED18	1	28661233	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	9063958	28661233	220589388	4	30088											
YTHDF2	51441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29069170	29069170	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr1:29069170G>A	ENST00000373812.3	+	4	750	c.388G>A	c.(388-390)Gac>Aac	p.D130N	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.D130N|YTHDF2_ENST00000541996.1_Missense_Mutation_p.D80N	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	130	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.D130N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTGGGATTGACTTCTCAGC	0.478																																																1	Substitution - Missense(1)	kidney(1)											168	156	160					1																	29069170		1895	4132	6027	SO:0001583	missense	51441			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"YTH domain family 2"			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.388G>A	1.37:g.29069170G>A	ENSP00000362918:p.Asp130Asn		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124810	0.56613	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.41065	1.01;1.01;1.01	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.66939	2.045	0.80722	D	1	P;P	0.49358	0.857;0.923	P;P	0.44811	0.461;0.461	T	0.56353	-0.7993	10	0.66056	D	0.02	-11.7442	17.9052	0.88916	0.0:0.0:1.0:0.0	.	130;130	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	N	130;130;80;130	ENSP00000444660:D130N;ENSP00000362918:D130N;ENSP00000439394:D80N	ENSP00000362918:D130N	D	+	1	0	YTHDF2	28941757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.714000	0.98744	2.594000	0.87642	0.585000	0.79938	GAC		0.478	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		A	29069170	G	A	29069170	3	1	557	1	0	0	0	0	1	0	0	0	17504	1290	45	2	402	2	YTHDF2	1	29069170	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	407937	29069170	220181451	5	30089											
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39715714	39715714	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr1:39715714A>G	ENST00000372915.3	+	3	398	c.311A>G	c.(310-312)gAa>gGa	p.E104G	RP11-420K8.1_ENST00000289890.7_RNA|MACF1_ENST00000361689.2_Missense_Mutation_p.E104G|MACF1_ENST00000539005.1_Missense_Mutation_p.E104G|MACF1_ENST00000317713.7_Missense_Mutation_p.E104G|MACF1_ENST00000564288.1_Missense_Mutation_p.E67G|MACF1_ENST00000536367.1_Missense_Mutation_p.E67G|MACF1_ENST00000567887.1_Missense_Mutation_p.E104G|MACF1_ENST00000545844.1_Missense_Mutation_p.E104G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	104	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E104G(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATCTTTATGAAGATCTGCGG	0.413																																																1	Substitution - Missense(1)	kidney(1)											189	174	179					1																	39715714		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.311A>G	1.37:g.39715714A>G	ENSP00000362006:p.Glu104Gly		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	A	32	5.166447	0.94768	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000494012;ENST00000536367	D;D;D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.56	5.56	0.83823	.	.	.	.	.	D	0.97476	0.9174	M	0.80746	2.51	0.58432	D	0.999999	D;P;D	0.76494	0.999;0.833;0.999	D;B;D	0.73380	0.98;0.426;0.973	D	0.98048	1.0386	9	0.72032	D	0.01	.	14.2476	0.65999	1.0:0.0:0.0:0.0	.	67;104;69	B4E2T3;F8W8Q1;Q9UPN3-3	.;.;.	G	104;104;104;120;104;104;62;67;67	ENSP00000439537:E104G;ENSP00000362006:E104G;ENSP00000354573:E104G;ENSP00000313438:E104G;ENSP00000444364:E104G;ENSP00000435070:E62G;ENSP00000435892:E67G;ENSP00000440369:E67G	ENSP00000313438:E104G	E	+	2	0	MACF1	39488301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.970000	0.93415	2.241000	0.73720	0.482000	0.46254	GAA		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39715714	A	G	39715714	3	3	557	1	0	0	0	0	1	0	0	0	9146	246	9	3	321	3	MACF1	1	39715714	Missense_Mutation	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	10646544	39715714	209534907	6	30090											
MSH4	4438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	76269428	76269428	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr1:76269428G>T	ENST00000263187.3	+	2	361	c.257G>T	c.(256-258)gGa>gTa	p.G86V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	86					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.G86V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCATACTTTGGAAACAAAAGA	0.289								Mismatch excision repair (MMR)																																								1	Substitution - Missense(1)	kidney(1)											44	47	46					1																	76269428		2202	4298	6500	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.257G>T	1.37:g.76269428G>T	ENSP00000263187:p.Gly86Val		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	6.164	0.398529	0.11696	.	.	ENSG00000057468	ENST00000263187	D	0.88431	-2.38	4.73	2.83	0.33086	.	0.382752	0.26016	N	0.026845	T	0.68888	0.3050	L	0.32530	0.975	0.51233	D	0.999915	P	0.34462	0.454	B	0.29077	0.098	T	0.64441	-0.6407	10	0.33940	T	0.23	-1.2597	8.8351	0.35107	0.0773:0.2828:0.6398:0.0	.	86	O15457	MSH4_HUMAN	V	86	ENSP00000263187:G86V	ENSP00000263187:G86V	G	+	2	0	MSH4	76042016	0.998000	0.40836	0.888000	0.34837	0.106000	0.19336	0.506000	0.22658	0.417000	0.25871	0.555000	0.69702	GGA		0.289	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		T	76269428	G	T	76269428	3	4	557	1	0	0	0	0	1	0	0	0	9874	1174	41	4	263	4	MSH4	1	76269428	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	36553714	76269428	172981193	7	30091											
COL24A1	255631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	86289366	86289366	+	Splice_Site	SNP	A	A	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr1:86289366A>G	ENST00000370571.2	-	44	4102		c.e44+1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCAAAACATACTGGGGGTCC	0.353																																																1	Unknown(1)	kidney(1)											127	127	127					1																	86289366		1832	4085	5917	SO:0001630	splice_region_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3735+1T>C	1.37:g.86289366A>G			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201246	0.79015	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3454	0.66658	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	86061954	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.847000	0.69451	2.371000	0.80710	0.533000	0.62120	.		0.353	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Intron	G	86289366	A	G	86289366	5	3	557	1	0	0	0	0	0	0	1	0	3685	405	14	3	1475	3	COL24A1	1	86289366	Splice_Site	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	10019938	86289366	162961255	8	30092											
ACP6	51205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	147124277	147124277	+	Silent	SNP	A	A	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr1:147124277A>G	ENST00000369238.6	-	7	1303	c.856T>C	c.(856-858)Ttg>Ctg	p.L286L	ACP6_ENST00000460583.1_5'Flank	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	286					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)	p.L286L(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGTATGTACAAGGATGTGTCC	0.512																																																1	Substitution - coding silent(1)	kidney(1)											133	115	121					1																	147124277		2203	4300	6503	SO:0001819	synonymous_variant	51205			BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.856T>C	1.37:g.147124277A>G			Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Silent	SNP	ENST00000369238.6	37	CCDS928.1																																																																																				0.512	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		G	147124277	A	G	147124277	2	3	557	1	0	0	0	0	0	0	0	1	165	69	3	3		3	ACP6	1	147124277	Silent	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	60834911	147124277	102126344	9	30093											
CENPF	1063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214818566	214818566	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr1:214818566A>T	ENST00000366955.3	+	13	5821	c.5653A>T	c.(5653-5655)Aat>Tat	p.N1885Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1981					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.N1885Y(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TATTGGAGATAATGTGGCCAA	0.423																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - Missense(1)	kidney(1)											59	58	59					1																	214818566		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5653A>T	1.37:g.214818566A>T	ENSP00000355922:p.Asn1885Tyr		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.526008	0.27299	.	.	ENSG00000117724	ENST00000366955	T	0.23348	1.91	5.26	-2.41	0.06562	.	0.694656	0.11848	N	0.523632	T	0.22551	0.0544	L	0.40543	1.245	0.09310	N	1	P	0.51653	0.947	P	0.44561	0.453	T	0.29305	-1.0016	10	0.72032	D	0.01	.	12.1798	0.54206	0.418:0.0:0.582:0.0	.	1981	P49454	CENPF_HUMAN	Y	1885	ENSP00000355922:N1885Y	ENSP00000355922:N1885Y	N	+	1	0	CENPF	212885189	0.110000	0.22057	0.000000	0.03702	0.013000	0.08279	0.341000	0.19909	-0.221000	0.09973	0.496000	0.49642	AAT		0.423	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214818566	A	T	214818566	3	4	557	1	0	0	0	0	1	0	0	0	3233	362	13	5	5699	5	CENPF	1	214818566	Missense_Mutation	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	67694289	214818566	34432055	10	30094											
AGT	183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	230839961	230839961	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr1:230839961T>C	ENST00000366667.4	-	4	1461	c.1247A>G	c.(1246-1248)aAt>aGt	p.N416S		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	416					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)	p.N416S(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGCGGTCATTGCTCAATTT	0.577																																																1	Substitution - Missense(1)	kidney(1)											168	130	143					1																	230839961		2203	4300	6503	SO:0001583	missense	183			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"Serine (or cysteine) peptidase inhibitors", "Endogenous ligands"	333	protein-coding gene	gene with protein product	"alpha-1 antiproteinase, antitrypsin"	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1247A>G	1.37:g.230839961T>C	ENSP00000355627:p.Asn416Ser		Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	T	4.656	0.122029	0.08931	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.87256	-2.23	5.33	4.19	0.49359	Serpin domain (3);	0.381500	0.31685	N	0.007225	T	0.77465	0.4134	N	0.19112	0.55	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.08055	0.003;0.003	T	0.65352	-0.6189	10	0.41790	T	0.15	.	11.451	0.50154	0.0:0.0:0.1512:0.8488	.	416;416	B0ZBE2;P01019	.;ANGT_HUMAN	S	416;334	ENSP00000355627:N416S	ENSP00000355627:N416S	N	-	2	0	AGT	228906584	0.063000	0.20901	0.006000	0.13384	0.000000	0.00434	2.959000	0.49153	0.848000	0.35191	-0.313000	0.08912	AAT		0.577	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		C	230839961	T	C	230839961	3	2	557	1	0	0	0	0	1	0	0	0	399	1493	52	3	218	3	AGT	1	230839961	Missense_Mutation	SNP	T	TCGA-CJ-6033-01A-11D-1669-08	16021395	230839961	18410660	11	30095											
STRN	6801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	37088370	37088370	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr2:37088370C>T	ENST00000263918.4	-	13	1582	c.1574G>A	c.(1573-1575)aGc>aAc	p.S525N	STRN_ENST00000379213.2_Missense_Mutation_p.S476N	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	525					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.S525N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ACCATTGCTGCTCATTACCAC	0.408																																																1	Substitution - Missense(1)	kidney(1)											158	128	138					2																	37088370		2203	4300	6503	SO:0001583	missense	6801			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1574G>A	2.37:g.37088370C>T	ENSP00000263918:p.Ser525Asn		Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615793	0.87359	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.64803	-0.12;-0.12	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	L	0.45581	1.43	0.80722	D	1	P;P	0.39665	0.682;0.562	P;P	0.51742	0.628;0.678	T	0.70684	-0.4804	10	0.51188	T	0.08	-11.9576	18.6282	0.91349	0.0:1.0:0.0:0.0	.	476;525	O43815-2;O43815	.;STRN_HUMAN	N	525;500;476	ENSP00000263918:S525N;ENSP00000368513:S476N	ENSP00000263918:S525N	S	-	2	0	STRN	36941874	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.984000	0.56923	2.400000	0.81607	0.591000	0.81541	AGC		0.408	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			T	37088370	C	T	37088370	3	4	557	1	0	0	0	0	1	0	0	0	15334	797	28	2	792	2	STRN	2	37088370	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08		37088370	206111003	12	30096											
GALNT13	114805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	155295210	155295210	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr2:155295210G>C	ENST00000392825.3	+	12	2069	c.1502G>C	c.(1501-1503)gGa>gCa	p.G501A	GALNT13_ENST00000409237.1_Missense_Mutation_p.G501A|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	501	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G501A(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CATATGAGAGGAAATCAGTTA	0.333																																																1	Substitution - Missense(1)	kidney(1)											129	132	131					2																	155295210		2203	4300	6503	SO:0001583	missense	114805			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1502G>C	2.37:g.155295210G>C	ENSP00000376570:p.Gly501Ala		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	CCDS2199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.996821|4.996821	0.93167|0.93167	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000392825;ENST00000409237;ENST00000453715|ENST00000450838;ENST00000422126	T;T;T|T	0.76709|0.24723	-1.04;-1.04;1.74|1.84	5.76|5.76	5.76|5.76	0.90799|0.90799	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.32585|0.32585	0.0834|0.0834	M|M	0.66378|0.66378	2.025|2.025	0.80722|0.80722	D|D	1|1	P;P|B	0.42871|0.18741	0.592;0.792|0.03	B;B|B	0.41135|0.16289	0.348;0.173|0.015	T|T	0.07443|0.07443	-1.0772|-1.0772	10|9	0.54805|0.87932	T|D	0.06|0	.|.	17.4509|17.4509	0.87592|0.87592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	501;501|480	Q08ER7;Q8IUC8|Q8IUC8-2	.;GLT13_HUMAN|.	A|S	501;501;36|86;39	ENSP00000376570:G501A;ENSP00000387239:G501A;ENSP00000396612:G36A|ENSP00000406237:R86S	ENSP00000376570:G501A|ENSP00000391469:R39S	G|R	+|+	2|3	0|2	GALNT13|GALNT13	155003456|155003456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.676000|9.676000	0.98643|0.98643	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.333	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		C	155295210	G	C	155295210	3	2	557	1	0	0	0	0	1	0	0	0	6213	1174	41	4	1540	4	GALNT13	2	155295210	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	118206840	155295210	87904163	13	30097											
XIRP2	129446	hgsc.bcm.edu;ucsc.edu	37	2	168101553	168101553	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr2:168101553G>C	ENST00000409195.1	+	9	3740	c.3651G>C	c.(3649-3651)gaG>gaC	p.E1217D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1217D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E995D|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1042					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTAGTTCAGAGGAAGTTTTGA	0.318																																																0													47	45	46					2																	168101553		1809	4071	5880	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3651G>C	2.37:g.168101553G>C	ENSP00000386840:p.Glu1217Asp		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	9.561	1.118413	0.20877	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03181	4.02;4.02;4.02	5.76	0.883	0.19177	.	0.051788	0.85682	D	0.000000	T	0.06050	0.0157	M	0.71581	2.175	0.46774	D	0.999195	P;P;P	0.52316	0.952;0.801;0.801	B;B;B	0.43194	0.411;0.314;0.314	T	0.27536	-1.0071	10	0.56958	D	0.05	-8.1846	9.2897	0.37780	0.4346:0.0:0.5654:0.0	.	1042;1042;995	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	1217;1217;995	ENSP00000386840:E1217D;ENSP00000295237:E1217D;ENSP00000387255:E995D	ENSP00000295237:E1217D	E	+	3	2	XIRP2	167809799	0.992000	0.36948	0.990000	0.47175	0.791000	0.44710	0.228000	0.17814	-0.110000	0.12022	-0.140000	0.14226	GAG		0.318	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		C	168101553	G	C	168101553	3	2	557	1	0	0	0	0	1	0	0	0	17435	991	35	4	3681	4	XIRP2	2	168101553	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	12806343	168101553	75097820	14	30098											
USP40	55230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234429716	234429716	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr2:234429716A>C	ENST00000427112.2	-	16	2278	c.2243T>G	c.(2242-2244)aTt>aGt	p.I748S	USP40_ENST00000251722.6_Missense_Mutation_p.I748S|USP40_ENST00000450966.1_Missense_Mutation_p.I760S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	748					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.I760S(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GAGCCAGTCAATCTCATTCAT	0.348																																																2	Substitution - Missense(2)	kidney(2)											106	97	99					2																	234429716		1832	4073	5905	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2243T>G	2.37:g.234429716A>C	ENSP00000387898:p.Ile748Ser		Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.201687	0.38905	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.43	-3.88	0.04205	.	2.752600	0.00735	N	0.000974	T	0.34542	0.0901	L	0.31664	0.95	0.09310	N	1	B;B	0.16166	0.009;0.016	B;B	0.15870	0.014;0.012	T	0.35525	-0.9785	10	0.66056	D	0.02	.	5.7772	0.18285	0.3429:0.4008:0.2563:0.0	.	748;760	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	S	760;748;748;43	ENSP00000415434:I760S;ENSP00000251722:I748S;ENSP00000387898:I748S;ENSP00000408853:I43S	ENSP00000251722:I748S	I	-	2	0	USP40	234094455	0.000000	0.05858	0.000000	0.03702	0.664000	0.39144	-0.106000	0.10890	-0.492000	0.06687	0.477000	0.44152	ATT		0.348	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		C	234429716	A	C	234429716	3	2	557	1	0	0	0	0	1	0	0	0	17077	101	4	5	1528	5	USP40	2	234429716	Missense_Mutation	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	66328163	234429716	8769657	15	30099											
SH3BP4	23677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	235950115	235950115	+	Silent	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr2:235950115G>A	ENST00000409212.1	+	4	1209	c.702G>A	c.(700-702)cgG>cgA	p.R234R	SH3BP4_ENST00000392011.2_Silent_p.R234R|SH3BP4_ENST00000344528.4_Silent_p.R234R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	234					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.R234R(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGGTCAGGCGGGACAACCCCT	0.577																																																1	Substitution - coding silent(1)	kidney(1)											105	120	115					2																	235950115		2203	4300	6503	SO:0001819	synonymous_variant	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.702G>A	2.37:g.235950115G>A			O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	CCDS2513.1																																																																																				0.577	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			A	235950115	G	A	235950115	2	1	557	1	0	0	0	0	0	0	0	1	14252	1219	43	2		2	SH3BP4	2	235950115	Silent	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	1520399	235950115	7249258	16	30100											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10188290	10188290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr3:10188290C>T	ENST00000256474.2	+	2	1273	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	145	Involved in binding to CCT complex.		Q -> H (in VHLD).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q145*(2)|p.Q145fs*12(1)|p.G144fs*14(1)|p.S139fs*12(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGTTGACGGACAGCCTATTTT	0.418		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	6	Deletion - Frameshift(4)|Substitution - Nonsense(2)	kidney(6)	GRCh37	CM994243	VHL	M							217	201	206					3																	10188290		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.433C>T	3.37:g.10188290C>T	ENSP00000256474:p.Gln145*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	43	10.345298	0.99388	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	5.07	5.07	0.68467	.	0.262110	0.33591	N	0.004751	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-29.4808	16.3181	0.82935	0.0:1.0:0.0:0.0	.	.	.	.	X	145;63	.	ENSP00000256474:Q145X	Q	+	1	0	VHL	10163290	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.592000	0.36676	2.530000	0.85305	0.563000	0.77884	CAG		0.418	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188290	C	T	10188290	4	4	557	1	0	0	0	0	0	1	0	0	17167	479	17	2	439	2	VHL	3	10188290	Nonsense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08		10188290	187834140	17	30101											
TRANK1	9881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	36899166	36899166	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr3:36899166C>T	ENST00000429976.2	-	12	2162	c.1915G>A	c.(1915-1917)Ggt>Agt	p.G639S	TRANK1_ENST00000301807.6_Missense_Mutation_p.G89S|TRANK1_ENST00000428977.2_Missense_Mutation_p.G89S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	639							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.G89S(2)|p.G639S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGAATGAACCCTGGGACTTG	0.592																																																3	Substitution - Missense(3)	kidney(3)											107	108	108					3																	36899166		2028	4191	6219	SO:0001583	missense	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1915G>A	3.37:g.36899166C>T	ENSP00000416168:p.Gly639Ser		Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	8.897	0.955509	0.18507	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29655	1.56;1.99;1.56	5.59	2.78	0.32641	.	0.692532	0.12798	N	0.438221	T	0.22513	0.0543	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.19095	-1.0316	10	0.46703	T	0.11	.	9.3701	0.38248	0.0:0.7728:0.0:0.2272	.	639	O15050	TRNK1_HUMAN	S	89;639;89	ENSP00000416826:G89S;ENSP00000416168:G639S;ENSP00000301807:G89S	ENSP00000301807:G89S	G	-	1	0	TRANK1	36874170	0.001000	0.12720	0.075000	0.20258	0.084000	0.17831	0.159000	0.16442	0.388000	0.25054	-0.145000	0.13849	GGT		0.592	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		T	36899166	C	T	36899166	3	4	557	1	0	0	0	0	1	0	0	0	16459	623	22	2	6910	2	TRANK1	3	36899166	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	26710876	36899166	161123264	18	30102											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu	37	3	52610715	52610715	+	Splice_Site	SNP	C	C	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr3:52610715C>G	ENST00000296302.7	-	22	3535		c.e22-1		PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(6)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTTTCAATTCTTGGGGAGGA	0.343			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	6	Unknown(6)	kidney(6)											52	51	52					3																	52610715		2199	4300	6499	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3534-1G>C	3.37:g.52610715C>G			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.444995	0.83993	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3907	0.94581	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52585755	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.720000	0.84759	2.664000	0.90586	0.591000	0.81541	.		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	G	52610715	C	G	52610715	5	3	557	1	0	0	0	0	0	0	1	0	11493	927	32	4	1403	4	PBRM1	3	52610715	Splice_Site	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	15711549	52610715	145411715	19	30103											
MYLK	4638	broad.mit.edu	37	3	123376191	123376191	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr3:123376191T>A	ENST00000475616.1	-	21	4069	c.4070A>T	c.(4069-4071)tAt>tTt	p.Y1357F	MYLK_ENST00000360772.3_Missense_Mutation_p.Y1357F|MYLK_ENST00000346322.5_Missense_Mutation_p.Y1288F|MYLK_ENST00000354792.5_Missense_Mutation_p.Y157F|MYLK_ENST00000359169.1_Missense_Mutation_p.Y1357F|MYLK_ENST00000360304.3_Missense_Mutation_p.Y1357F			Q15746	MYLK_HUMAN	myosin light chain kinase	1357	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.Y1357F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCCCCCATCATATGAGGAGCC	0.557																																																1	Substitution - Missense(1)	kidney(1)											91	82	85					3																	123376191		2203	4300	6503	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4070A>T	3.37:g.123376191T>A	ENSP00000418335:p.Tyr1357Phe		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463000	0.84425	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.16	5.65	5.65	0.86999	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60612	0.2282	L	0.56769	1.78	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.998;0.998;0.999	T	0.56553	-0.7960	9	0.31617	T	0.26	.	16.1587	0.81683	0.0:0.0:0.0:1.0	.	1357;1288;1357;1288;1357	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	F	1357;1357;1357;1288;157;1357;157	ENSP00000354004:Y1357F;ENSP00000353452:Y1357F;ENSP00000352088:Y1357F;ENSP00000320622:Y1288F;ENSP00000346846:Y157F;ENSP00000418335:Y1357F;ENSP00000422984:Y157F	ENSP00000320622:Y1288F	Y	-	2	0	MYLK	124858881	1.000000	0.71417	0.073000	0.20177	0.543000	0.35085	7.997000	0.88414	2.277000	0.76020	0.533000	0.62120	TAT		0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		A	123376191	T	A	123376191	3	1	557	1	0	0	0	0	1	0	0	0	10058	1406	49	5	1718	5	MYLK	3	123376191	Missense_Mutation	SNP	T	TCGA-CJ-6033-01A-11D-1669-08	70765476	123376191	74646239	20	30104											
PLXND1	23129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	129276046	129276046	+	Silent	SNP	G	G	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr3:129276046G>T	ENST00000324093.4	-	34	5644	c.5466C>A	c.(5464-5466)ctC>ctA	p.L1822L	PLXND1_ENST00000504689.1_5'UTR|PLXND1_ENST00000393239.1_3'UTR	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1822					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.L1822L(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGCGTAGAGGAGCTTGTTGG	0.557																																					Ovarian(97;366 1484 3738 22084 39045)											1	Substitution - coding silent(1)	kidney(1)											126	95	106					3																	129276046		2203	4300	6503	SO:0001819	synonymous_variant	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5466C>A	3.37:g.129276046G>T			A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	1.337	-0.595290	0.03771	.	.	ENSG00000004399	ENST00000506979	.	.	.	5.35	-2.27	0.06846	.	.	.	.	.	T	0.51856	0.1699	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47058	-0.9146	4	.	.	.	.	7.8086	0.29217	0.1658:0.609:0.1281:0.0971	.	.	.	.	T	166	.	.	P	-	1	0	PLXND1	130758736	0.444000	0.25649	0.991000	0.47740	0.060000	0.15804	-0.302000	0.08221	-0.285000	0.09089	-0.304000	0.09214	CCT		0.557	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		T	129276046	G	T	129276046	2	4	557	1	0	0	0	0	0	0	0	1	12129	1161	41	4		4	PLXND1	3	129276046	Silent	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	5899855	129276046	68746384	21	30105											
PLOD2	5352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	145799589	145799589	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr3:145799589A>T	ENST00000360060.3	-	12	1471	c.1294T>A	c.(1294-1296)Ttg>Atg	p.L432M	PLOD2_ENST00000461497.1_Missense_Mutation_p.L92M|PLOD2_ENST00000282903.5_Missense_Mutation_p.L432M|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.L377M	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	432					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.L432M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCAGGACTCAATGCTCCCCAG	0.388																																																1	Substitution - Missense(1)	kidney(1)											87	82	84					3																	145799589		2203	4300	6503	SO:0001583	missense	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1294T>A	3.37:g.145799589A>T	ENSP00000353170:p.Leu432Met		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.581203	0.65992	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.53	-2.91	0.05631	.	0.000000	0.64402	D	0.000001	D	0.89822	0.6826	L	0.56124	1.755	0.40202	D	0.977525	D;D;P;P	0.89917	0.999;1.0;0.939;0.949	D;D;P;P	0.87578	0.998;0.99;0.612;0.607	D	0.87282	0.2293	10	0.39692	T	0.17	-37.1527	15.4318	0.75105	0.3574:0.0:0.6426:0.0	.	377;432;432;92	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	M	92;432;432;377	ENSP00000419354:L92M;ENSP00000282903:L432M;ENSP00000353170:L432M;ENSP00000420094:L377M	ENSP00000282903:L432M	L	-	1	2	PLOD2	147282279	0.000000	0.05858	0.058000	0.19502	0.998000	0.95712	-0.042000	0.12063	-0.434000	0.07275	0.482000	0.46254	TTG		0.388	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		T	145799589	A	T	145799589	3	4	557	1	0	0	0	0	1	0	0	0	12104	98	4	5	1018	5	PLOD2	3	145799589	Missense_Mutation	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	16523543	145799589	52222841	22	30106											
VEPH1	79674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	157031465	157031465	+	Missense_Mutation	SNP	C	C	T	rs201853660		TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr3:157031465C>T	ENST00000362010.2	-	11	2262	c.1955G>A	c.(1954-1956)gGg>gAg	p.G652E	VEPH1_ENST00000392833.2_Intron|RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000543418.1_Intron|RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.G652E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	652						plasma membrane (GO:0005886)		p.G652E(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTGAGCACCCCCTGCCTGGGT	0.488																																																1	Substitution - Missense(1)	kidney(1)											73	75	74					3																	157031465		2203	4300	6503	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1955G>A	3.37:g.157031465C>T	ENSP00000354919:p.Gly652Glu		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	0.099	-1.155233	0.01700	.	.	ENSG00000197415	ENST00000362010;ENST00000392832	T;T	0.06294	3.32;3.32	5.01	-1.53	0.08611	.	0.368712	0.28653	N	0.014587	T	0.01558	0.0050	N	0.01874	-0.695	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.43653	-0.9378	10	0.02654	T	1	-0.1681	5.7749	0.18273	0.0:0.4074:0.1521:0.4405	.	652	Q14D04	MELT_HUMAN	E	652	ENSP00000354919:G652E;ENSP00000376577:G652E	ENSP00000354919:G652E	G	-	2	0	VEPH1	158514159	0.749000	0.28305	0.000000	0.03702	0.584000	0.36387	1.185000	0.32065	-0.438000	0.07232	0.484000	0.47621	GGG		0.488	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		T	157031465	C	T	157031465	3	4	557	1	0	0	0	0	1	0	0	0	17159	623	22	2	562	2	VEPH1	3	157031465	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	11231876	157031465	40990965	23	30107											
FNDC3B	64778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	172060897	172060897	+	Missense_Mutation	SNP	T	T	G	rs557648244		TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr3:172060897T>G	ENST00000336824.4	+	18	2167	c.2068T>G	c.(2068-2070)Tta>Gta	p.L690V	FNDC3B_ENST00000415807.2_Missense_Mutation_p.L690V|FNDC3B_ENST00000416957.1_Missense_Mutation_p.L690V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	690	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.L690V(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGAAGTCCACTTAGAGTGGGG	0.438													T|||	1	0.000199681	0.0	0.0	5008	,	,		20479	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											124	107	113					3																	172060897		2203	4300	6503	SO:0001583	missense	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2068T>G	3.37:g.172060897T>G	ENSP00000338523:p.Leu690Val		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808310	0.70797	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.59364	0.27;0.27;0.27	6.02	3.33	0.38152	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	L	0.58428	1.81	0.80722	D	1	P	0.46578	0.88	P	0.55345	0.774	T	0.57481	-0.7804	10	0.28530	T	0.3	-11.1969	8.1404	0.31080	0.0:0.2384:0.0:0.7616	.	690	Q53EP0	FND3B_HUMAN	V	690	ENSP00000411242:L690V;ENSP00000338523:L690V;ENSP00000389094:L690V	ENSP00000338523:L690V	L	+	1	2	FNDC3B	173543591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.830000	0.39131	1.096000	0.41439	0.528000	0.53228	TTA		0.438	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		G	172060897	T	G	172060897	3	3	557	1	0	0	0	0	1	0	0	0	5972	1606	56	5	2134	5	FNDC3B	3	172060897	Missense_Mutation	SNP	T	TCGA-CJ-6033-01A-11D-1669-08	15029432	172060897	25961533	24	30108											
PIK3CA	5290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936091	G	A	178936091	3	1	557	1	0	0	0	0	1	0	0	0	11915	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	6875194	178936091	19086339	25	30109											
GPR78	27201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8588871	8588871	+	Silent	SNP	G	G	A	rs148589120		TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr4:8588871G>A	ENST00000382487.4	+	3	1290	c.873G>A	c.(871-873)ccG>ccA	p.P291P	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	291					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P291P(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGGCCGACCCGTTCACGTACT	0.667																																																1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	44	45	44		873	-2.7	0	4	dbSNP_134	44	0,8600		0,0,4300	no	coding-synonymous	GPR78	NM_080819.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		291/364	8588871	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.873G>A	4.37:g.8588871G>A			Q8NGV3	Silent	SNP	ENST00000382487.4	37	CCDS3403.1																																																																																				0.667	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			A	8588871	G	A	8588871	2	1	557	1	0	0	0	0	0	0	0	1	6712	1132	40	1		1	GPR78	4	8588871	Silent	SNP	G	TCGA-CJ-6033-01A-11D-1669-08		8588871	182565405	26	30110											
RBM46	166863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	155719349	155719349	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr4:155719349A>G	ENST00000281722.3	+	3	773	c.538A>G	c.(538-540)Aag>Gag	p.K180E	RBM46_ENST00000510397.1_Missense_Mutation_p.K180E|RBM46_ENST00000514866.1_Missense_Mutation_p.K180E	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	180	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K180E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGCAACTGATAAGACCAAAAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											64	63	64					4																	155719349		2203	4296	6499	SO:0001583	missense	166863			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.538A>G	4.37:g.155719349A>G	ENSP00000281722:p.Lys180Glu		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100841	0.76983	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.16073	2.37;2.37;2.37	5.64	5.64	0.86602	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.091774	0.64402	D	0.000001	T	0.34745	0.0908	M	0.71581	2.175	0.58432	D	0.999996	P;P;P	0.42456	0.741;0.78;0.755	B;P;P	0.51516	0.405;0.672;0.67	T	0.04320	-1.0960	10	0.54805	T	0.06	-17.1739	15.8535	0.78956	1.0:0.0:0.0:0.0	.	180;180;180	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	E	180	ENSP00000424500:K180E;ENSP00000281722:K180E;ENSP00000422813:K180E	ENSP00000281722:K180E	K	+	1	0	RBM46	155938799	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.142000	0.94618	2.148000	0.66965	0.460000	0.39030	AAG		0.363	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		G	155719349	A	G	155719349	3	3	557	1	0	0	0	0	1	0	0	0	13146	363	13	3	544	3	RBM46	4	155719349	Missense_Mutation	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	147130478	155719349	35434927	27	30111											
FAT1	2195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	187538911	187538911	+	Silent	SNP	C	C	A	rs566222095		TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr4:187538911C>A	ENST00000441802.2	-	10	9038	c.8829G>T	c.(8827-8829)acG>acT	p.T2943T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2943	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T2946T(2)|p.T2943T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATCAGCATCCGTGGTACTTA	0.388										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											4	Substitution - coding silent(4)	endometrium(2)|kidney(2)											108	106	107					4																	187538911		1897	4100	5997	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8829G>T	4.37:g.187538911C>A				Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.388	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187538911	C	A	187538911	2	1	557	1	0	0	0	0	0	0	0	1	5691	639	23	4		4	FAT1	4	187538911	Silent	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	31819562	187538911	3615365	28	30112											
PDZD2	23037	broad.mit.edu;hgsc.bcm.edu	37	5	32000300	32000300	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr5:32000300G>A	ENST00000438447.1	+	5	1565	c.1177G>A	c.(1177-1179)Gtc>Atc	p.V393I	PDZD2_ENST00000282493.3_Missense_Mutation_p.V393I			O15018	PDZD2_HUMAN	PDZ domain containing 2	393	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.V393I(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCATTTACTGGTCGGGCTCTC	0.527																																																1	Substitution - Missense(1)	kidney(1)											119	110	113					5																	32000300		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1177G>A	5.37:g.32000300G>A	ENSP00000402033:p.Val393Ile		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210458	0.58343	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.28255	1.62;1.62	5.55	2.82	0.32997	PDZ/DHR/GLGF (4);	0.579854	0.14553	N	0.312556	T	0.21468	0.0517	N	0.11106	0.095	0.35852	D	0.826852	P;P	0.48503	0.911;0.619	P;B	0.49085	0.6;0.323	T	0.12630	-1.0540	10	0.24483	T	0.36	.	9.3236	0.37980	0.2355:0.0:0.7645:0.0	.	219;393	B4E3P2;O15018	.;PDZD2_HUMAN	I	393	ENSP00000402033:V393I;ENSP00000282493:V393I	ENSP00000282493:V393I	V	+	1	0	PDZD2	32036057	1.000000	0.71417	0.588000	0.28705	0.995000	0.86356	4.813000	0.62620	0.313000	0.23062	0.555000	0.69702	GTC		0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			A	32000300	G	A	32000300	3	1	557	1	0	0	0	0	1	0	0	0	11703	1261	44	2	1191	2	PDZD2	5	32000300	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08		32000300	148914960	29	30113											
NNT	23530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43615986	43615986	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr5:43615986C>T	ENST00000264663.5	+	4	639	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	NNT_ENST00000512996.2_Missense_Mutation_p.H9Y|NNT_ENST00000344920.4_Missense_Mutation_p.H140Y	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	140					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.H140Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATTAGGTGTTCATGAAGCTGA	0.343																																																1	Substitution - Missense(1)	kidney(1)											77	79	79					5																	43615986		2203	4300	6503	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.418C>T	5.37:g.43615986C>T	ENSP00000264663:p.His140Tyr		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714906	0.89112	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920;ENST00000512996;ENST00000515208	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.89	5.89	0.94794	Alanine dehydrogenase/PNT, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.66939	2.045	0.49389	D	0.999787	D	0.76494	0.999	D	0.68039	0.955	D	0.85935	0.1454	10	0.48119	T	0.1	-15.1525	20.2576	0.98430	0.0:1.0:0.0:0.0	.	140	Q13423	NNTM_HUMAN	Y	140;140;140;140;9;9	ENSP00000427670:H140Y;ENSP00000421886:H140Y;ENSP00000264663:H140Y;ENSP00000343873:H140Y;ENSP00000426343:H9Y;ENSP00000425542:H9Y	ENSP00000264663:H140Y	H	+	1	0	NNT	43651743	0.999000	0.42202	0.999000	0.59377	0.995000	0.86356	4.352000	0.59404	2.783000	0.95769	0.655000	0.94253	CAT		0.343	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		T	43615986	C	T	43615986	3	4	557	1	0	0	0	0	1	0	0	0	10512	826	29	2	428	2	NNT	5	43615986	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	11615686	43615986	137299274	30	30114											
ISL1	3670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	50685733	50685733	+	Silent	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr5:50685733G>A	ENST00000230658.7	+	4	1317	c.732G>A	c.(730-732)aaG>aaA	p.K244K	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.K244K	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	244	Gln-rich.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.K244K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TCATGATGAAGCAACTCCAGC	0.587																																																1	Substitution - coding silent(1)	kidney(1)											57	66	63					5																	50685733		2202	4300	6502	SO:0001819	synonymous_variant	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.732G>A	5.37:g.50685733G>A			P20663|P47894	Silent	SNP	ENST00000230658.7	37	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	G	4.381	0.070205	0.08436	.	.	ENSG00000016082	ENST00000505475	.	.	.	5.63	1.23	0.21249	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58487	-0.7628	5	0.87932	D	0	.	5.4407	0.16507	0.3275:0.0:0.5371:0.1354	.	.	.	.	T	191	.	ENSP00000421737:A191T	A	+	1	0	ISL1	50721490	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	2.090000	0.41682	0.302000	0.22762	-0.188000	0.12872	GCA		0.587	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		A	50685733	G	A	50685733	2	1	557	1	0	0	0	0	0	0	0	1	7858	962	34	2		2	ISL1	5	50685733	Silent	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	7069747	50685733	130229527	31	30115											
CHSY3	337876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	129520719	129520719	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr5:129520719C>G	ENST00000305031.4	+	3	2242	c.1884C>G	c.(1882-1884)atC>atG	p.I628M		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	628					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.I628M(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TTCCTCTCATCGGAAGGTATG	0.358																																																1	Substitution - Missense(1)	kidney(1)											73	74	73					5																	129520719		2203	4300	6503	SO:0001583	missense	337876			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1884C>G	5.37:g.129520719C>G	ENSP00000302629:p.Ile628Met		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	4.592	0.110020	0.08780	.	.	ENSG00000198108	ENST00000305031	T	0.34472	1.36	4.12	-4.49	0.03504	.	0.819771	0.10522	N	0.664801	T	0.15349	0.0370	N	0.22421	0.69	0.18873	N	0.999985	B	0.27853	0.191	B	0.24848	0.056	T	0.23154	-1.0196	9	.	.	.	-0.3774	0.2357	0.00185	0.2252:0.2401:0.1825:0.3522	.	628	Q70JA7	CHSS3_HUMAN	M	628	ENSP00000302629:I628M	.	I	+	3	3	CHSY3	129548618	0.018000	0.18449	0.023000	0.16930	0.916000	0.54674	-0.579000	0.05834	-0.668000	0.05296	-0.300000	0.09419	ATC		0.358	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		G	129520719	C	G	129520719	3	3	557	1	0	0	0	0	1	0	0	0	3415	874	31	4	1894	4	CHSY3	5	129520719	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	78834986	129520719	51394541	32	30116											
NDST1	3340	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149932854	149932854	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr5:149932854T>C	ENST00000261797.6	+	15	3111	c.2609T>C	c.(2608-2610)cTt>cCt	p.L870P	NDST1_ENST00000523767.1_Missense_Mutation_p.L813P|NDST1_ENST00000521752.1_3'UTR	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	870	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.L870P(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCAGACACTTCCCACTTGG	0.562																																																1	Substitution - Missense(1)	kidney(1)											247	241	243					5																	149932854		2203	4300	6503	SO:0001583	missense	3340			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2609T>C	5.37:g.149932854T>C	ENSP00000261797:p.Leu870Pro		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792050	0.50102	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.56275	0.47;0.47	4.65	4.65	0.58169	.	0.074038	0.56097	D	0.000033	T	0.50463	0.1617	L	0.58810	1.83	0.80722	D	1	P;B	0.40619	0.724;0.342	B;B	0.38755	0.281;0.243	T	0.57341	-0.7828	10	0.56958	D	0.05	.	14.3753	0.66869	0.0:0.0:0.0:1.0	.	813;870	E7EVJ3;P52848	.;NDST1_HUMAN	P	813;870	ENSP00000428604:L813P;ENSP00000261797:L870P	ENSP00000261797:L870P	L	+	2	0	NDST1	149913047	1.000000	0.71417	0.998000	0.56505	0.444000	0.32077	7.649000	0.83500	1.853000	0.53794	0.402000	0.26972	CTT		0.562	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		C	149932854	T	C	149932854	3	2	557	1	0	0	0	0	1	0	0	0	10257	1609	56	3	2663	3	NDST1	5	149932854	Missense_Mutation	SNP	T	TCGA-CJ-6033-01A-11D-1669-08	20412135	149932854	30982406	33	30117											
BNIP1	662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	172578593	172578593	+	Intron	SNP	A	A	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr5:172578593A>T	ENST00000351486.5	+	3	208				BNIP1_ENST00000231668.9_Missense_Mutation_p.I68F|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Missense_Mutation_p.I68F	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.I68F(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGGGCATTTATTTGGACTGC	0.373																																																1	Substitution - Missense(1)	kidney(1)											107	102	104					5																	172578593		2203	4300	6503	SO:0001627	intron_variant	662			AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"BCL2/adenovirus E1B 19kD-interacting protein 1"			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.178-2732A>T	5.37:g.172578593A>T			D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	A	6.905	0.536575	0.13188	.	.	ENSG00000113734	ENST00000231668;ENST00000352523	T;T	0.47177	0.85;0.94	2.39	1.14	0.20703	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21759	-1.0236	8	0.48119	T	0.1	.	4.4747	0.11729	0.7077:0.0:0.0:0.2923	.	68;68	Q12981-3;Q12981-1	.;.	F	68	ENSP00000231668:I68F;ENSP00000239214:I68F	ENSP00000231668:I68F	I	+	1	0	BNIP1	172511199	0.033000	0.19621	0.004000	0.12327	0.002000	0.02628	1.230000	0.32612	0.319000	0.23209	0.421000	0.28195	ATT		0.373	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		T	172578593	A	T	172578593	1	4	557	0	1	0	0	0	0	0	0	0	1476	449	16	5		5	BNIP1	5	172578593	Intron	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	22645739	172578593	8336667	34	30118											
SOX4	6659	broad.mit.edu;hgsc.bcm.edu	37	6	21595027	21595027	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr6:21595027G>A	ENST00000244745.1	+	1	1056	c.262G>A	c.(262-264)Gag>Aag	p.E88K	SOX4_ENST00000543472.1_Missense_Mutation_p.E88K	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	88					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E88K(1)		kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GCACAACGCCGAGATCTCCAA	0.607																																																1	Substitution - Missense(1)	kidney(1)											37	34	35					6																	21595027		2203	4300	6503	SO:0001583	missense	6659			AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.262G>A	6.37:g.21595027G>A	ENSP00000244745:p.Glu88Lys			Missense_Mutation	SNP	ENST00000244745.1	37	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113345	0.94339	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.95554	-3.74;-3.74	5.12	5.12	0.69794	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.98251	0.9421	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.99541	1.0963	10	0.87932	D	0	.	17.3307	0.87262	0.0:0.0:1.0:0.0	.	88	Q06945	SOX4_HUMAN	K	88	ENSP00000244745:E88K;ENSP00000438412:E88K	ENSP00000244745:E88K	E	+	1	0	SOX4	21703006	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.237000	0.95368	2.365000	0.80145	0.555000	0.69702	GAG		0.607	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		A	21595027	G	A	21595027	3	1	557	1	0	0	0	0	1	0	0	0	14959	1059	37	1	264	1	SOX4	6	21595027	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08		21595027	149520040	35	30119											
NEU1	4758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	31828358	31828358	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr6:31828358C>T	ENST00000375631.4	-	4	785	c.656G>A	c.(655-657)gGc>gAc	p.G219D		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	219			G -> A (in SIALIDOSIS; type 1; unable to reach the lysosomes). {ECO:0000269|PubMed:11063730}.		glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.G219D(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	CGTCCCATGGCCACACACGAT	0.627																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM004862	NEU1	M							97	95	96					6																	31828358		2203	4300	6503	SO:0001583	missense	4758			AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.656G>A	6.37:g.31828358C>T	ENSP00000364782:p.Gly219Asp			Missense_Mutation	SNP	ENST00000375631.4	37	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205792	0.95033	.	.	ENSG00000204386	ENST00000375631	D	0.84223	-1.82	5.84	5.84	0.93424	Neuraminidase (2);	0.102003	0.64402	D	0.000002	D	0.89955	0.6865	M	0.65320	2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.987	D	0.89243	0.3585	10	0.51188	T	0.08	-20.7269	17.6331	0.88114	0.0:1.0:0.0:0.0	.	219;219	E9PIF4;Q99519	.;NEUR1_HUMAN	D	219	ENSP00000364782:G219D	ENSP00000364782:G219D	G	-	2	0	NEU1	31936337	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.173000	0.77612	2.775000	0.95449	0.655000	0.94253	GGC		0.627	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			T	31828358	C	T	31828358	3	4	557	1	0	0	0	0	1	0	0	0	10343	739	26	2	603	2	NEU1	6	31828358	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	10233331	31828358	139286709	36	30120											
CREB5	9586	broad.mit.edu	37	7	28610069	28610069	+	Silent	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr7:28610069C>T	ENST00000357727.2	+	5	768	c.378C>T	c.(376-378)gaC>gaT	p.D126D	CREB5_ENST00000396300.2_Silent_p.D119D|CREB5_ENST00000396299.2_Silent_p.D93D|CREB5_ENST00000409603.1_Silent_p.D93D	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	126					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D126D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CCAACCATGACACCAACGTTG	0.587																																																1	Substitution - coding silent(1)	kidney(1)											112	98	102					7																	28610069		2203	4300	6503	SO:0001819	synonymous_variant	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.378C>T	7.37:g.28610069C>T			A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	CCDS5417.1																																																																																				0.587	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		T	28610069	C	T	28610069	2	4	557	1	0	0	0	0	0	0	0	1	3862	477	17	2		2	CREB5	7	28610069	Silent	SNP	C	TCGA-CJ-6033-01A-11D-1669-08		28610069	130528594	37	30121											
SAMD9	54809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92734661	92734661	+	Silent	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr7:92734661G>A	ENST00000379958.2	-	3	1019	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	250						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.I250I(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGTGACTTTGATGCCAACAA	0.388																																																1	Substitution - coding silent(1)	kidney(1)											145	139	142					7																	92734661		2203	4300	6503	SO:0001819	synonymous_variant	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.750C>T	7.37:g.92734661G>A			A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	CCDS34680.1																																																																																				0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		A	92734661	G	A	92734661	2	1	557	1	0	0	0	0	0	0	0	1	13832	1280	45	2		2	SAMD9	7	92734661	Silent	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	64124592	92734661	66404002	38	30122											
POP7	10248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100304462	100304462	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr7:100304462A>C	ENST00000303151.4	+	2	271	c.9A>C	c.(7-9)gaA>gaC	p.E3D		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	3					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)	p.E3D(1)		endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCATGGCAGAAAACCGAGAGC	0.597																																																1	Substitution - Missense(1)	kidney(1)											62	70	67					7																	100304462		2203	4300	6503	SO:0001583	missense	10248			U94316	CCDS5704.1	7q22	2012-05-21	2007-06-26		ENSG00000172336	ENSG00000172336			19949	protein-coding gene	gene with protein product	"ribonuclease P protein subunit p20"	606113	"processing of precursor 7, ribonuclease P subunit (S. cerevisiae)"			9630247	Standard	NM_005837		Approved	RPP20, RPP2	uc003uwh.4	O75817	OTTHUMG00000044311	ENST00000303151.4:c.9A>C	7.37:g.100304462A>C	ENSP00000304353:p.Glu3Asp		A4D2E0|Q9BV74	Missense_Mutation	SNP	ENST00000303151.4	37	CCDS5704.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.832262	0.50845	.	.	ENSG00000172336	ENST00000303151;ENST00000457480	.	.	.	5.49	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.19046	0.0457	N	0.08118	0	0.29740	N	0.837171	B	0.21147	0.052	B	0.12837	0.008	T	0.07139	-1.0788	9	0.37606	T	0.19	-11.124	4.8218	0.13394	0.7147:0.0:0.2853:0.0	.	3	O75817	POP7_HUMAN	D	3	.	ENSP00000304353:E3D	E	+	3	2	POP7	100142398	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.480000	0.35464	0.925000	0.37094	0.459000	0.35465	GAA		0.597	POP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103070.1	NM_005837		C	100304462	A	C	100304462	3	2	557	1	0	0	0	0	1	0	0	0	12256	11	1	5	11	5	POP7	7	100304462	Missense_Mutation	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	7569801	100304462	58834201	39	30123											
DLD	1738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107556003	107556003	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr7:107556003G>C	ENST00000205402.5	+	9	1018	c.737G>C	c.(736-738)gGt>gCt	p.G246A	DLD_ENST00000440410.1_Missense_Mutation_p.G223A|DLD_ENST00000537148.1_Missense_Mutation_p.G147A|DLD_ENST00000437604.2_Missense_Mutation_p.G198A	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	246					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)	p.G246A(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	GAATTTTTAGGTCATGTAGGT	0.328																																																2	Substitution - Missense(2)	kidney(2)											111	113	113					7																	107556003		2203	4300	6503	SO:0001583	missense	1738			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.737G>C	7.37:g.107556003G>C	ENSP00000205402:p.Gly246Ala		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490944	0.64074	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.98	5.1	0.69264	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.044381	0.85682	D	0.000000	T	0.56659	0.2000	L	0.51853	1.615	0.80722	D	1	B;B;B	0.34264	0.277;0.01;0.446	B;B;B	0.43194	0.411;0.014;0.214	T	0.59542	-0.7435	10	0.59425	D	0.04	-12.35	15.3127	0.74048	0.067:0.0:0.933:0.0	.	223;198;246	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	A	246;246;147;223;198;196	ENSP00000205402:G246A;ENSP00000390667:G246A;ENSP00000442399:G147A;ENSP00000417016:G223A;ENSP00000387542:G198A	ENSP00000205402:G246A	G	+	2	0	DLD	107343239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.540000	0.49301	0.591000	0.81541	GGT		0.328	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		C	107556003	G	C	107556003	3	2	557	1	0	0	0	0	1	0	0	0	4553	1261	44	4	771	4	DLD	7	107556003	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	7251541	107556003	51582660	40	30124											
WDR91	29062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134889161	134889161	+	Silent	SNP	A	A	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr7:134889161A>G	ENST00000354475.4	-	6	781	c.750T>C	c.(748-750)aaT>aaC	p.N250N	AC009542.2_ENST00000595902.1_RNA|WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000344400.5_Silent_p.N250N|WDR91_ENST00000423565.1_Silent_p.N215N	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	250								p.N250N(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGAGGGAGGCATTCCTTTGGC	0.587																																																1	Substitution - coding silent(1)	kidney(1)											74	57	63					7																	134889161		2203	4300	6503	SO:0001819	synonymous_variant	29062			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.750T>C	7.37:g.134889161A>G			A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	CCDS34758.1																																																																																				0.587	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		G	134889161	A	G	134889161	2	3	557	1	0	0	0	0	0	0	0	1	17343	214	8	3		3	WDR91	7	134889161	Silent	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	27333158	134889161	24249502	41	30125											
VCPIP1	80124	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67546928	67546928	+	Silent	SNP	T	T	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr8:67546928T>C	ENST00000310421.4	-	3	3735	c.3477A>G	c.(3475-3477)gaA>gaG	p.E1159E		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1159					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.E1159E(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAGGAAAAGATTCAGGCAAAC	0.433																																					NSCLC(179;265 2915 6144 43644)											1	Substitution - coding silent(1)	kidney(1)											100	99	99					8																	67546928		2203	4300	6503	SO:0001819	synonymous_variant	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3477A>G	8.37:g.67546928T>C			Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	CCDS6192.1																																																																																				0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			C	67546928	T	C	67546928	2	2	557	1	0	0	0	0	0	0	0	1	17146	1490	52	3		3	VCPIP1	8	67546928	Silent	SNP	T	TCGA-CJ-6033-01A-11D-1669-08		67546928	78817094	42	30126											
OSGIN2	734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	90937536	90937536	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr8:90937536A>G	ENST00000297438.2	+	6	1649	c.1294A>G	c.(1294-1296)Aag>Gag	p.K432E	OSGIN2_ENST00000451899.2_Missense_Mutation_p.K476E	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	432					meiotic nuclear division (GO:0007126)			p.K432E(1)|p.K476E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CCTAGGCCATAAGTCAAGCCA	0.388																																																2	Substitution - Missense(2)	kidney(2)											118	119	118					8																	90937536		2203	4300	6503	SO:0001583	missense	734			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"chromosome 8 open reading frame 1"	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.1294A>G	8.37:g.90937536A>G	ENSP00000297438:p.Lys432Glu			Missense_Mutation	SNP	ENST00000297438.2	37	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.468047	0.26335	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.27890	1.64;1.64	5.79	4.64	0.57946	.	0.236445	0.50627	D	0.000101	T	0.14399	0.0348	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.08953	-1.0697	10	0.23302	T	0.38	-3.5996	7.8339	0.29360	0.6848:0.2427:0.0724:0.0	.	476;432	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	E	432;476	ENSP00000297438:K432E;ENSP00000396445:K476E	ENSP00000297438:K432E	K	+	1	0	OSGIN2	91006711	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.194000	0.42668	1.029000	0.39812	0.460000	0.39030	AAG		0.388	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		G	90937536	A	G	90937536	3	3	557	1	0	0	0	0	1	0	0	0	11292	363	13	3	1448	3	OSGIN2	8	90937536	Missense_Mutation	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	23390608	90937536	55426486	43	30127											
PTK2	5747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141712777	141712777	+	Silent	SNP	G	G	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr8:141712777G>T	ENST00000522684.1	-	25	2488	c.2259C>A	c.(2257-2259)atC>atA	p.I753I	PTK2_ENST00000535192.1_Intron|PTK2_ENST00000538769.1_Silent_p.I421I|PTK2_ENST00000430260.2_Silent_p.I63I|PTK2_ENST00000519419.1_Silent_p.I797I|PTK2_ENST00000519465.1_Silent_p.I381I|PTK2_ENST00000395218.2_Silent_p.I753I|PTK2_ENST00000340930.3_Silent_p.I753I|PTK2_ENST00000521059.1_Silent_p.I753I|PTK2_ENST00000517887.1_Silent_p.I797I	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	753	Interaction with TGFB1I1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.I775I(1)|p.I753I(1)|p.I705I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CCATGGCTGTGATTCCATGTG	0.473																																																3	Substitution - coding silent(3)	kidney(3)											95	83	88					8																	141712777		2203	4300	6503	SO:0001819	synonymous_variant	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2259C>A	8.37:g.141712777G>T			B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	CCDS6381.1																																																																																				0.473	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		T	141712777	G	T	141712777	2	4	557	1	0	0	0	0	0	0	0	1	12768	1280	45	4		4	PTK2	8	141712777	Silent	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	50775241	141712777	4651245	44	30128											
EPPK1	83481	broad.mit.edu;hgsc.bcm.edu	37	8	144941623	144941623	+	Silent	SNP	C	C	A	rs369842241		TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr8:144941623C>A	ENST00000525985.1	-	2	5870	c.5799G>T	c.(5797-5799)gcG>gcT	p.A1933A				P58107	EPIPL_HUMAN	epiplakin 1	1933						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.A1933A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCGGCCTGCGCCTCCAGCA	0.662																																																1	Substitution - coding silent(1)	kidney(1)											26	33	31					8																	144941623		2040	4154	6194	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5799G>T	8.37:g.144941623C>A			Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																					0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		A	144941623	C	A	144941623	2	1	557	1	0	0	0	0	0	0	0	1	5192	755	27	4		4	EPPK1	8	144941623	Silent	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	3228846	144941623	1422399	45	30129											
KIAA1432	57589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	5763502	5763502	+	Silent	SNP	G	G	A	rs149258225		TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr9:5763502G>A	ENST00000414202.2	+	19	2666	c.2475G>A	c.(2473-2475)caG>caA	p.Q825Q	KIAA1432_ENST00000418622.3_Silent_p.Q746Q|KIAA1432_ENST00000251879.6_Silent_p.Q825Q|KIAA1432_ENST00000381532.2_Silent_p.Q746Q|KIAA1432_ENST00000449720.2_Silent_p.Q709Q	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.Q746Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GAACCTCTCAGATCTACCTCC	0.478																																																1	Substitution - coding silent(1)	kidney(1)						G	,,	2,4404	4.2+/-10.8	0,2,2201	119	108	112		2475,2364,2475	5.8	1	9	dbSNP_134	112	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA1432	NM_001135920.2,NM_001206557.1,NM_020829.3	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	825/1166,788/1387,825/1424	5763502	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57589																														ENST00000414202.2:c.2475G>A	9.37:g.5763502G>A				Silent	SNP	ENST00000414202.2	37	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	6.866	0.529104	0.13127	4.54E-4	0.0	ENSG00000107036	ENST00000545641	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	T	0.76709	0.4025	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74300	-0.3710	4	.	.	.	-13.9523	20.0079	0.97439	0.0:0.0:1.0:0.0	.	.	.	.	N	717	.	.	D	+	1	0	KIAA1432	5753502	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.484000	0.60271	2.726000	0.93360	0.561000	0.74099	GAT		0.478	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			A	5763502	G	A	5763502	2	1	557	1	0	0	0	0	0	0	0	1	8235	933	33	2		2	KIAA1432	9	5763502	Silent	SNP	G	TCGA-CJ-6033-01A-11D-1669-08		5763502	135449929	46	30130											
IFNA14	3448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	21239700	21239700	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr9:21239700C>A	ENST00000380222.2	-	1	278	c.235G>T	c.(235-237)Gtc>Ttc	p.V79F		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	79					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.V79F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCATGGAGGACAGAGATGGCT	0.458																																																1	Substitution - Missense(1)	kidney(1)											113	111	111					9																	21239700		2203	4300	6503	SO:0001583	missense	3448				CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"Interferons"	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.235G>T	9.37:g.21239700C>A	ENSP00000369571:p.Val79Phe		Q5VZ56|Q7M4S1	Missense_Mutation	SNP	ENST00000380222.2	37	CCDS6501.1	.	.	.	.	.	.	.	.	.	.	-	13.48	2.249574	0.39797	.	.	ENSG00000228083	ENST00000380222	T	0.05649	3.41	3.38	-1.11	0.09840	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.622896	0.15896	N	0.239316	T	0.17959	0.0431	M	0.79805	2.47	0.09310	N	1	P	0.42123	0.771	P	0.59012	0.85	T	0.05550	-1.0878	10	0.72032	D	0.01	.	5.5833	0.17262	0.0:0.4956:0.3031:0.2013	.	79	P01570	IFN14_HUMAN	F	79	ENSP00000369571:V79F	ENSP00000369571:V79F	V	-	1	0	IFNA14	21229700	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-0.185000	0.09684	-0.093000	0.12396	-1.389000	0.01157	GTC		0.458	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		A	21239700	C	A	21239700	3	1	557	1	0	0	0	0	1	0	0	0	7536	478	17	4	338	4	IFNA14	9	21239700	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	15476198	21239700	119973731	47	30131											
GALT	2592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	34649524	34649524	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr9:34649524T>C	ENST00000378842.3	+	10	1064	c.1022T>C	c.(1021-1023)aTg>aCg	p.M341T	GALT_ENST00000488412.2_3'UTR|GALT_ENST00000450095.2_Missense_Mutation_p.M232T|IL11RA_ENST00000441545.2_5'Flank|GALT_ENST00000556278.1_Intron|IL11RA_ENST00000555003.1_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	341					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)	p.M341T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGCTACGAAATGCTTGCTCAG	0.577									Galactosemia																																							1	Substitution - Missense(1)	kidney(1)											108	102	104					9																	34649524		2203	4300	6503	SO:0001583	missense	2592	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.1022T>C	9.37:g.34649524T>C	ENSP00000368119:p.Met341Thr		B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282057	0.80692	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99232	-5.6;-5.6	5.21	5.21	0.72293	Histidine triad motif (1);Galactose-1-phosphate uridyl transferase, C-terminal (1);Histidine triad-like motif (1);	0.046664	0.85682	U	0.000000	D	0.99266	0.9744	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.75484	0.986;0.984	D	0.99222	1.0879	10	0.87932	D	0	-10.6696	13.9041	0.63823	0.0:0.0:0.0:1.0	.	232;341	E7ET32;P07902	.;GALT_HUMAN	T	232;341	ENSP00000401956:M232T;ENSP00000368119:M341T	ENSP00000368119:M341T	M	+	2	0	GALT	34639524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.562000	0.82300	1.970000	0.57323	0.459000	0.35465	ATG		0.577	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		C	34649524	T	C	34649524	3	2	557	1	0	0	0	0	1	0	0	0	6232	1464	51	3	1060	3	GALT	9	34649524	Missense_Mutation	SNP	T	TCGA-CJ-6033-01A-11D-1669-08	13409824	34649524	106563907	48	30132											
DNAJC25	548645	broad.mit.edu;hgsc.bcm.edu	37	9	114411754	114411754	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr9:114411754T>C	ENST00000313525.3	+	3	567	c.511T>C	c.(511-513)Tac>Cac	p.Y171H	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	171						integral component of membrane (GO:0016021)		p.Y171H(1)		kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						GTGGAATAGCTACAATAAGGC	0.398																																																1	Substitution - Missense(1)	kidney(1)											37	36	36					9																	114411754		1868	4099	5967	SO:0001583	missense	548645				CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"Heat shock proteins / DNAJ (HSP40)"	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.511T>C	9.37:g.114411754T>C	ENSP00000320650:p.Tyr171His		Q5QTD8|Q96BN9	Missense_Mutation	SNP	ENST00000313525.3	37	CCDS43862.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472357	0.84533	.	.	ENSG00000059769	ENST00000313525	T	0.52983	0.64	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.71234	-0.4653	10	0.56958	D	0.05	-6.2681	15.1366	0.72572	0.0:0.0:0.0:1.0	.	171	Q9H1X3	DJC25_HUMAN	H	171	ENSP00000320650:Y171H	ENSP00000320650:Y171H	Y	+	1	0	DNAJC25	113451575	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.637000	0.83313	2.302000	0.77476	0.533000	0.62120	TAC		0.398	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		C	114411754	T	C	114411754	3	2	557	1	0	0	0	0	1	0	0	0	4645	1522	53	3	521	3	DNAJC25	9	114411754	Missense_Mutation	SNP	T	TCGA-CJ-6033-01A-11D-1669-08	79762230	114411754	26801677	49	30133											
FRMPD2	143162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	49459680	49459680	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr10:49459680G>C	ENST00000374201.3	-	2	382	c.80C>G	c.(79-81)gCt>gGt	p.A27G	FRMPD2_ENST00000407470.4_Missense_Mutation_p.A18G|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A25G	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	27	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.A27G(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTCAGACAGAGCTTCACCCCT	0.572																																																1	Substitution - Missense(1)	kidney(1)											83	71	75					10																	49459680		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.80C>G	10.37:g.49459680G>C	ENSP00000363317:p.Ala27Gly		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754414	0.89843	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.29917	1.55;1.55;1.55	5.55	5.55	0.83447	KIND (2);	.	.	.	.	T	0.51975	0.1706	M	0.67953	2.075	0.29112	N	0.880826	D;D;D	0.69078	0.997;0.984;0.993	D;P;P	0.64042	0.921;0.784;0.879	T	0.49051	-0.8979	9	0.46703	T	0.11	.	15.0119	0.71555	0.0:0.0:1.0:0.0	.	25;27;18	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	G	27;25;18	ENSP00000363317:A27G;ENSP00000307079:A25G;ENSP00000384339:A18G	ENSP00000307079:A25G	A	-	2	0	FRMPD2	49129686	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	4.841000	0.62824	2.634000	0.89283	0.563000	0.77884	GCT		0.572	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		C	49459680	G	C	49459680	3	2	557	1	0	0	0	0	1	0	0	0	6060	971	34	4	3961	4	FRMPD2	10	49459680	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08		49459680	86075067	50	30134											
IFIT2	3433	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	91066668	91066668	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr10:91066668G>T	ENST00000371826.3	+	2	1124	c.955G>T	c.(955-957)Gct>Tct	p.A319S	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	319					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.A319S(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AATAGGACACGCTGTGGCTCA	0.433																																																1	Substitution - Missense(1)	kidney(1)											75	73	73					10																	91066668		1906	4119	6025	SO:0001583	missense	3433			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.955G>T	10.37:g.91066668G>T	ENSP00000360891:p.Ala319Ser		Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217781	0.79352	.	.	ENSG00000119922	ENST00000371826	T	0.58940	0.3	4.58	3.67	0.42095	Tetratricopeptide-like helical (1);	0.415483	0.20775	U	0.085909	T	0.61489	0.2351	M	0.79926	2.475	0.09310	N	1	P	0.47762	0.9	P	0.45538	0.484	T	0.59075	-0.7522	10	0.56958	D	0.05	-1.4886	9.5759	0.39457	0.0781:0.0:0.7805:0.1414	.	319	P09913	IFIT2_HUMAN	S	319	ENSP00000360891:A319S	ENSP00000360891:A319S	A	+	1	0	IFIT2	91056648	0.000000	0.05858	0.004000	0.12327	0.831000	0.47069	0.311000	0.19380	1.533000	0.49186	0.655000	0.94253	GCT		0.433	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		T	91066668	G	T	91066668	3	4	557	1	0	0	0	0	1	0	0	0	7525	1087	38	4	961	4	IFIT2	10	91066668	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	41606988	91066668	44468079	51	30135											
KDM2A	22992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	67017906	67017906	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr11:67017906C>T	ENST00000529006.2	+	17	2851	c.2405C>T	c.(2404-2406)aCg>aTg	p.T802M	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.T363M|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_Missense_Mutation_p.T260M	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	802					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.T802M(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTCACTGTCACGCTACAGAGG	0.582																																																1	Substitution - Missense(1)	kidney(1)											68	76	74					11																	67017906		2113	4230	6343	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2405C>T	11.37:g.67017906C>T	ENSP00000432786:p.Thr802Met		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885950	0.51908	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000446134;ENST00000308783	T;T;T	0.27256	2.05;1.68;1.75	5.91	5.91	0.95273	.	0.050176	0.85682	D	0.000000	T	0.38026	0.1025	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.971;0.985	T	0.04333	-1.0959	9	.	.	.	-10.1062	18.4788	0.90804	0.0:1.0:0.0:0.0	.	260;802	D4QA03;Q9Y2K7	.;KDM2A_HUMAN	M	802;363;363;260	ENSP00000432786:T802M;ENSP00000435776:T363M;ENSP00000309302:T260M	.	T	+	2	0	KDM2A	66774482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.269000	0.58890	2.802000	0.96397	0.655000	0.94253	ACG		0.582	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		T	67017906	C	T	67017906	3	4	557	1	0	0	0	0	1	0	0	0	8126	536	19	1	2467	1	KDM2A	11	67017906	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08		67017906	67988610	52	30136											
MRE11A	4361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94169018	94169018	+	Silent	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr11:94169018G>A	ENST00000323929.3	-	18	2196	c.1974C>T	c.(1972-1974)acC>acT	p.T658T	MRE11A_ENST00000407439.3_Silent_p.T661T|MRE11A_ENST00000323977.3_Silent_p.T630T|MRE11A_ENST00000393241.4_Silent_p.T657T	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	658					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.T658T(1)|p.T630T(1)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TCTTTGAAGTGGTAGGAAAAA	0.338								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																							2	Substitution - coding silent(2)	kidney(2)											130	121	124					11																	94169018		2201	4298	6499	SO:0001819	synonymous_variant	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1974C>T	11.37:g.94169018G>A			O43475	Silent	SNP	ENST00000323929.3	37	CCDS8299.1																																																																																				0.338	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		A	94169018	G	A	94169018	2	1	557	1	0	0	0	0	0	0	0	1	9761	1335	47	2		2	MRE11A	11	94169018	Silent	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	27151112	94169018	40837498	53	30137											
DSCAML1	57453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117647629	117647629	+	Silent	SNP	G	G	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr11:117647629G>T	ENST00000321322.6	-	3	569	c.568C>A	c.(568-570)Cgg>Agg	p.R190R	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	130	Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R190R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCTCCACCCGGACGGTGTAG	0.532																																																1	Substitution - coding silent(1)	kidney(1)											117	96	103					11																	117647629		2201	4296	6497	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.568C>A	11.37:g.117647629G>T			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.532	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		T	117647629	G	T	117647629	2	4	557	1	0	0	0	0	0	0	0	1	4771	1115	39	4		4	DSCAML1	11	117647629	Silent	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	23478611	117647629	17358887	54	30138											
ACSS3	79611	broad.mit.edu;ucsc.edu	37	12	81647354	81647354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr12:81647354C>T	ENST00000548058.1	+	15	2810	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	ACSS3_ENST00000548324.1_Nonsense_Mutation_p.R316*|ACSS3_ENST00000261206.3_Nonsense_Mutation_p.R633*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	634						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.R634*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCTGCTTTTCGAAATGCAGT	0.428																																																2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)											96	97	97					12																	81647354		2203	4300	6503	SO:0001587	stop_gained	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1900C>T	12.37:g.81647354C>T	ENSP00000449535:p.Arg634*		Q8NC66	Nonsense_Mutation	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	38	7.002967	0.97994	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	.	.	.	6.03	5.13	0.70059	.	0.120311	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-5.1243	16.523	0.84322	0.1319:0.8681:0.0:0.0	.	.	.	.	X	634;633;316	.	ENSP00000261206:R633X	R	+	1	2	ACSS3	80171485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.744000	0.55112	1.521000	0.48983	0.557000	0.71058	CGA		0.428	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		T	81647354	C	T	81647354	4	4	557	1	0	0	0	0	0	1	0	0	190	876	31	1	1958	1	ACSS3	12	81647354	Nonsense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08		81647354	52204541	55	30139											
ISCU	23479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	108960983	108960983	+	Silent	SNP	T	T	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr12:108960983T>C	ENST00000311893.9	+	4	379	c.357T>C	c.(355-357)acT>acC	p.T119T	ISCU_ENST00000431221.2_Silent_p.T119T|ISCU_ENST00000392807.4_Silent_p.T94T|ISCU_ENST00000547005.1_Silent_p.T119T|ISCU_ENST00000535729.1_Silent_p.T119T|ISCU_ENST00000338291.4_Silent_p.T94T|ISCU_ENST00000539593.1_Silent_p.T119T	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	119					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)	p.T94T(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						AAGCCTTGACTATCAAAAACA	0.483																																																1	Substitution - coding silent(1)	kidney(1)											146	127	134					12																	108960983		2203	4300	6503	SO:0001819	synonymous_variant	23479			U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"NifU-like N-terminal domain containing", "IscU iron-sulfur cluster scaffold homolog (E. coli)", "iron-sulfur cluster scaffold homolog (E. coli)"	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.357T>C	12.37:g.108960983T>C			Q6P713|Q99617|Q9H1K2	Silent	SNP	ENST00000311893.9	37	CCDS44966.1																																																																																				0.483	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399693.1	NM_014301		C	108960983	T	C	108960983	2	2	557	1	0	0	0	0	0	0	0	1	7854	1509	53	3		3	ISCU	12	108960983	Silent	SNP	T	TCGA-CJ-6033-01A-11D-1669-08	27313629	108960983	24890912	56	30140											
HIF1A	3091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	62187224	62187224	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr14:62187224C>A	ENST00000337138.4	+	2	425	c.160C>A	c.(160-162)Ctt>Att	p.L54I	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.L55I|HIF1A_ENST00000323441.6_Missense_Mutation_p.L54I|HIF1A_ENST00000557538.1_De_novo_Start_OutOfFrame|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000539097.1_Missense_Mutation_p.L78I	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	54	Interaction with TSGA10. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.L54I(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GAGTTCGCATCTTGATAAGGC	0.433																																																1	Substitution - Missense(1)	kidney(1)											115	106	109					14																	62187224		2203	4300	6503	SO:0001583	missense	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.160C>A	14.37:g.62187224C>A	ENSP00000338018:p.Leu54Ile		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093759	0.94149	.	.	ENSG00000100644	ENST00000337138;ENST00000394997;ENST00000323441;ENST00000539097	T;T;T;T	0.67171	-0.13;-0.15;-0.25;1.91	5.75	5.75	0.90469	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	D	0.88518	0.6458	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.91456	0.5185	10	0.87932	D	0	.	19.9462	0.97183	0.0:1.0:0.0:0.0	.	55;54;54	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	I	54;55;54;78	ENSP00000338018:L54I;ENSP00000378446:L55I;ENSP00000323326:L54I;ENSP00000437955:L78I	ENSP00000323326:L54I	L	+	1	0	HIF1A	61256977	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	6.030000	0.70903	2.717000	0.92951	0.585000	0.79938	CTT		0.433	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		A	62187224	C	A	62187224	3	1	557	1	0	0	0	0	1	0	0	0	7105	913	32	4	166	4	HIF1A	14	62187224	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08		62187224	45162316	57	30141											
SLC8A3	6547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	70633462	70633462	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr14:70633462C>T	ENST00000381269.2	-	2	2431	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	SLC8A3_ENST00000534137.1_Missense_Mutation_p.G560S|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G560S|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G560S|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G560S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	560	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.G560S(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATGACTGTACCCCGGGCACCT	0.483																																																2	Substitution - Missense(2)	kidney(2)											100	97	98					14																	70633462		2203	4300	6503	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1678G>A	14.37:g.70633462C>T	ENSP00000370669:p.Gly560Ser		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196407	0.78902	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.69	5.69	0.88448	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.85373	2.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.994;0.996	T	0.66404	-0.5932	10	0.59425	D	0.04	.	19.8067	0.96534	0.0:1.0:0.0:0.0	.	560;560;560;560	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	S	560	ENSP00000349392:G560S;ENSP00000370669:G560S;ENSP00000350560:G560S;ENSP00000436688:G560S;ENSP00000433531:G560S	ENSP00000349392:G560S	G	-	1	0	SLC8A3	69703215	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.672000	0.90937	0.650000	0.86243	GGT		0.483	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			T	70633462	C	T	70633462	3	4	557	1	0	0	0	0	1	0	0	0	14714	623	22	2	1244	2	SLC8A3	14	70633462	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	8446238	70633462	36716078	58	30142											
NGB	58157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77733013	77733013	+	Splice_Site	SNP	T	T	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr14:77733013T>A	ENST00000298352.4	-	4	696	c.322A>T	c.(322-324)Aca>Tca	p.T108S	MIR1260A_ENST00000408827.1_RNA	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	108	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.T108S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		TCACCCACTGTCTGCAGAGGC	0.582																																																1	Substitution - Missense(1)	kidney(1)											52	45	48					14																	77733013		2203	4300	6503	SO:0001630	splice_region_variant	58157			AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.322-1A>T	14.37:g.77733013T>A				Missense_Mutation	SNP	ENST00000298352.4	37	CCDS9856.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628924	0.67015	.	.	ENSG00000165553	ENST00000298352	D	0.92805	-3.11	4.61	3.45	0.39498	Globin-like (1);Globin, structural domain (1);	0.332441	0.32258	N	0.006353	D	0.90731	0.7091	M	0.74881	2.28	0.49687	D	0.999817	P	0.52842	0.956	P	0.46076	0.503	D	0.86618	0.1877	10	0.22109	T	0.4	.	9.2154	0.37344	0.0:0.0889:0.0:0.9111	.	108	Q9NPG2	NGB_HUMAN	S	108	ENSP00000298352:T108S	ENSP00000298352:T108S	T	-	1	0	NGB	76802766	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	0.582000	0.23834	0.620000	0.30215	0.459000	0.35465	ACA		0.582	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414194.1	NM_021257	Missense_Mutation	A	77733013	T	A	77733013	5	1	557	1	0	0	0	0	0	0	1	0	10394	1681	58	5	137	5	NGB	14	77733013	Splice_Site	SNP	T	TCGA-CJ-6033-01A-11D-1669-08	7099551	77733013	29616527	59	30143											
SLC12A6	9990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	34547536	34547536	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr15:34547536A>G	ENST00000354181.3	-	8	1295	c.803T>C	c.(802-804)gTt>gCt	p.V268A	SLC12A6_ENST00000451844.2_Missense_Mutation_p.V80A|SLC12A6_ENST00000397702.2_Missense_Mutation_p.V209A|SLC12A6_ENST00000458406.2_Missense_Mutation_p.V209A|SLC12A6_ENST00000560164.1_Missense_Mutation_p.V80A|SLC12A6_ENST00000560611.1_Missense_Mutation_p.V268A|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000290209.5_Missense_Mutation_p.V217A|SLC12A6_ENST00000397707.2_Missense_Mutation_p.V253A|SLC12A6_ENST00000558667.1_Missense_Mutation_p.V268A|SLC12A6_ENST00000558589.1_Missense_Mutation_p.V259A			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	268					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.V259A(1)|p.V217A(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCAGAGGCCAACAGCCCCACC	0.448																																																2	Substitution - Missense(2)	kidney(2)											78	80	80					15																	34547536		2201	4298	6499	SO:0001583	missense	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.803T>C	15.37:g.34547536A>G	ENSP00000346112:p.Val268Ala		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.905849	0.92107	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08	5.43	5.43	0.79202	Amino acid permease domain (1);	0.000000	0.64402	D	0.000002	D	0.99324	0.9763	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.992;0.996;0.999	D	0.98874	1.0767	10	0.87932	D	0	.	14.5986	0.68424	1.0:0.0:0.0:0.0	.	253;268;217;80	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	A	217;253;259;209;209;80	ENSP00000290209:V217A;ENSP00000380819:V253A;ENSP00000380814:V209A;ENSP00000387725:V209A;ENSP00000390199:V80A	ENSP00000290209:V217A	V	-	2	0	SLC12A6	32334828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.279000	0.76181	0.533000	0.62120	GTT		0.448	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		G	34547536	A	G	34547536	3	3	557	1	0	0	0	0	1	0	0	0	14393	43	2	3	2725	3	SLC12A6	15	34547536	Missense_Mutation	SNP	A	TCGA-CJ-6033-01A-11D-1669-08		34547536	67983856	60	30144											
DUOXA2	405753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45408398	45408398	+	Silent	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr15:45408398C>T	ENST00000323030.5	+	3	567	c.282C>T	c.(280-282)cgC>cgT	p.R94R	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	94					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.R94R(1)					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GCGCAGCGCGCGTTACAGCCC	0.567																																																1	Substitution - coding silent(1)	kidney(1)											134	126	129					15																	45408398		2002	4148	6150	SO:0001819	synonymous_variant	405753			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.282C>T	15.37:g.45408398C>T			B2RPI9|H0YNQ6	Silent	SNP	ENST00000323030.5	37	CCDS10118.2																																																																																				0.567	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		T	45408398	C	T	45408398	2	4	557	1	0	0	0	0	0	0	0	1	4805	755	27	1		1	DUOXA2	15	45408398	Silent	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	10860862	45408398	57122994	61	30145											
RLBP1	6017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89760467	89760467	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr15:89760467C>T	ENST00000268125.5	-	5	669	c.230G>A	c.(229-231)gGg>gAg	p.G77E		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	77					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.G77E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CAGCTCCTCCCCCGAGGCCGC	0.662																																																1	Substitution - Missense(1)	kidney(1)											58	59	59					15																	89760467		2200	4299	6499	SO:0001583	missense	6017			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"retinaldehyde-binding protein 1"			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.230G>A	15.37:g.89760467C>T	ENSP00000268125:p.Gly77Glu		B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551990	0.86127	.	.	ENSG00000140522	ENST00000268125	T	0.78707	-1.2	5.03	4.1	0.47936	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.049184	0.85682	D	0.000000	T	0.81851	0.4910	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.78324	-0.2248	10	0.02654	T	1	-21.5075	12.8229	0.57704	0.0:0.921:0.0:0.079	.	77	P12271	RLBP1_HUMAN	E	77	ENSP00000268125:G77E	ENSP00000268125:G77E	G	-	2	0	RLBP1	87561471	0.999000	0.42202	0.983000	0.44433	0.829000	0.46940	5.498000	0.66931	2.341000	0.79615	0.561000	0.74099	GGG		0.662	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326		T	89760467	C	T	89760467	3	4	557	1	0	0	0	0	1	0	0	0	13394	623	22	2	743	2	RLBP1	15	89760467	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	44352069	89760467	12770925	62	30146											
ATP2C2	9914	hgsc.bcm.edu	37	16	84497252	84497252	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr16:84497252G>A	ENST00000262429.4	+	27	2844	c.2755G>A	c.(2755-2757)Gtc>Atc	p.V919I	ATP2C2_ENST00000416219.2_Missense_Mutation_p.V948I|ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	919					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.V919I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGCCTCATCCGTCTTCATTTT	0.507																																																1	Substitution - Missense(1)	kidney(1)											109	115	113					16																	84497252		1925	4137	6062	SO:0001583	missense	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2755G>A	16.37:g.84497252G>A	ENSP00000262429:p.Val919Ile		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471946	0.63737	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.95821	-3.82;-3.82	5.25	5.25	0.73442	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.56097	D	0.000035	D	0.97374	0.9141	M	0.73598	2.24	0.53688	D	0.99997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0	D	0.96634	0.9469	10	0.31617	T	0.26	.	17.8246	0.88661	0.0:0.0:1.0:0.0	.	948;768;768;936;919	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	I	948;919;768	ENSP00000397925:V948I;ENSP00000262429:V919I	ENSP00000262429:V919I	V	+	1	0	ATP2C2	83054753	1.000000	0.71417	0.877000	0.34402	0.051000	0.14879	7.924000	0.87555	2.460000	0.83146	0.655000	0.94253	GTC		0.507	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		A	84497252	G	A	84497252	3	1	557	1	0	0	0	0	1	0	0	0	1144	1145	40	1	2861	1	ATP2C2	16	84497252	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08		84497252	5857501	63	30147											
LLGL1	3996	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18135884	18135884	+	Silent	SNP	C	C	T	rs551770657		TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr17:18135884C>T	ENST00000316843.4	+	3	351	c.255C>T	c.(253-255)acC>acT	p.T85T		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	85					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.T85T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ACTTCTTGACCGGCCAGGTGA	0.592																																																1	Substitution - coding silent(1)	kidney(1)											86	70	75					17																	18135884		2203	4300	6503	SO:0001819	synonymous_variant	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.255C>T	17.37:g.18135884C>T			A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	CCDS32586.1																																																																																				0.592	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			T	18135884	C	T	18135884	2	4	557	1	0	0	0	0	0	0	0	1	8835	639	23	1		1	LLGL1	17	18135884	Silent	SNP	C	TCGA-CJ-6033-01A-11D-1669-08		18135884	63059326	64	30148											
SMCR8	140775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18220787	18220787	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr17:18220787A>C	ENST00000406438.3	+	1	2164	c.1684A>C	c.(1684-1686)Agt>Cgt	p.S562R	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	562						nucleus (GO:0005634)		p.S562R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GGCAAGCATCAGTCCTCCAGA	0.493																																																1	Substitution - Missense(1)	kidney(1)											120	128	125					17																	18220787		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1684A>C	17.37:g.18220787A>C	ENSP00000385025:p.Ser562Arg		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.906457	0.00512	.	.	ENSG00000176994	ENST00000406438	T	0.32988	1.43	6.03	-0.456	0.12190	.	0.629731	0.17760	N	0.162921	T	0.16041	0.0386	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22208	-1.0223	10	0.21540	T	0.41	-25.527	5.6322	0.17516	0.5626:0.2426:0.1947:0.0	.	562	Q8TEV9	SMCR8_HUMAN	R	562	ENSP00000385025:S562R	ENSP00000385025:S562R	S	+	1	0	SMCR8	18161512	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.008000	0.29872	-0.385000	0.07833	-0.250000	0.11733	AGT		0.493	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		C	18220787	A	C	18220787	3	2	557	1	0	0	0	0	1	0	0	0	14798	188	7	5	1686	5	SMCR8	17	18220787	Missense_Mutation	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	84903	18220787	62974423	65	30149											
ACE	1636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61559982	61559982	+	Missense_Mutation	SNP	C	C	T	rs372626836		TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr17:61559982C>T	ENST00000290866.4	+	8	1298	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	ACE_ENST00000490216.2_5'Flank|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.A425V|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000538928.1_Missense_Mutation_p.A425V|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000413513.3_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	425	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.A425V(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GACGTGCTGGCGCTCTCGGTC	0.622																																																1	Substitution - Missense(1)	kidney(1)						C	VAL/ALA	0,4406		0,0,2203	100	95	97		1274	3.7	0.7	17		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACE	NM_000789.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	425/1307	61559982	1,13005	2203	4300	6503	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1274C>T	17.37:g.61559982C>T	ENSP00000290866:p.Ala425Val		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302734	0.60195	0.0	1.16E-4	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.45668	0.89;0.89;0.89	4.69	3.71	0.42584	.	0.184234	0.47852	D	0.000202	T	0.62744	0.2453	M	0.81179	2.53	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.992	D;P;P	0.63703	0.917;0.803;0.811	T	0.67321	-0.5700	10	0.48119	T	0.1	-12.1021	14.2193	0.65815	0.0:0.7158:0.2842:0.0	.	425;425;425	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	V	425	ENSP00000439591:A425V;ENSP00000290866:A425V;ENSP00000397593:A425V	ENSP00000290866:A425V	A	+	2	0	ACE	58913714	0.998000	0.40836	0.741000	0.31004	0.327000	0.28475	3.854000	0.55949	1.178000	0.42870	-0.305000	0.09177	GCG		0.622	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			T	61559982	C	T	61559982	3	4	557	1	0	0	0	0	1	0	0	0	136	768	27	1	1304	1	ACE	17	61559982	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	43339195	61559982	19635228	66	30150											
ARSG	22901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	66303656	66303656	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr17:66303656G>C	ENST00000448504.2	+	2	818	c.22G>C	c.(22-24)Gtt>Ctt	p.V8L	ARSG_ENST00000452479.2_Intron	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	8					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.V8L(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTCTAAAGGTTTTGTTGGC	0.458																																																1	Substitution - Missense(1)	kidney(1)											92	103	99					17																	66303656		2203	4300	6503	SO:0001583	missense	22901			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.22G>C	17.37:g.66303656G>C	ENSP00000407193:p.Val8Leu		Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900397	0.33535	.	.	ENSG00000141337	ENST00000452479	.	.	.	5.46	4.49	0.54785	.	0.417330	0.21520	N	0.073234	T	0.34135	0.0887	L	0.29908	0.895	0.80722	D	1	B	0.28055	0.199	B	0.27380	0.079	T	0.08994	-1.0695	9	0.10902	T	0.67	.	6.7911	0.23699	0.0869:0.0:0.7383:0.1749	.	8	Q96EG1	ARSG_HUMAN	L	8	.	ENSP00000413953:V8L	V	+	1	0	ARSG	63815251	1.000000	0.71417	0.990000	0.47175	0.922000	0.55478	2.192000	0.42649	1.533000	0.49186	0.655000	0.94253	GTT		0.458	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		C	66303656	G	C	66303656	3	2	557	1	0	0	0	0	1	0	0	0	992	1261	44	4	24	4	ARSG	17	66303656	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	4743674	66303656	14891554	67	30151											
SS18	6760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	23619298	23619298	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr18:23619298T>C	ENST00000415083.2	-	6	785	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	SS18_ENST00000542743.1_Missense_Mutation_p.M192V|SS18_ENST00000585241.1_5'Flank|SS18_ENST00000542420.2_Missense_Mutation_p.M221V|SS18_ENST00000545952.1_Missense_Mutation_p.M192V|SS18_ENST00000539849.1_Missense_Mutation_p.M162V|SS18_ENST00000269137.7_Missense_Mutation_p.M244V	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	244	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.M244V(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TGACCCATCATATGATTGCCT	0.428			T	"SSX1,  SSX2"	synovial sarcoma																																		Dom	yes		18	18q11.2	6760	"synovial sarcoma translocation, chromosome 18"		M	1	Substitution - Missense(1)	kidney(1)											246	216	226					18																	23619298		2203	4300	6503	SO:0001583	missense	6760			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.730A>G	18.37:g.23619298T>C	ENSP00000414516:p.Met244Val		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.107737	0.37242	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.29655	1.59;1.59;1.56;1.57;1.56	5.55	5.55	0.83447	.	0.039832	0.85682	D	0.000000	T	0.22282	0.0537	N	0.20685	0.6	0.49213	D	0.99976	B;B;B	0.22909	0.0;0.0;0.077	B;B;B	0.15052	0.0;0.0;0.012	T	0.02991	-1.1085	10	0.36615	T	0.2	-2.6705	15.9896	0.80193	0.0:0.0:0.0:1.0	.	192;244;244	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	V	247;244;244;221;192;162;192	ENSP00000269137:M244V;ENSP00000438066:M221V;ENSP00000444551:M192V;ENSP00000444647:M162V;ENSP00000443097:M192V	ENSP00000269137:M244V	M	-	1	0	SS18	21873296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.763000	0.55257	2.238000	0.73509	0.533000	0.62120	ATG		0.428	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			C	23619298	T	C	23619298	3	2	557	1	0	0	0	0	1	0	0	0	15180	1406	49	3	550	3	SS18	18	23619298	Missense_Mutation	SNP	T	TCGA-CJ-6033-01A-11D-1669-08		23619298	54457950	68	30152											
SLC14A2	8170	hgsc.bcm.edu;ucsc.edu	37	18	43246949	43246949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr18:43246949delT	ENST00000255226.6	+	13	2423	c.1607delT	c.(1606-1608)attfs	p.I536fs	SLC14A2_ENST00000586448.1_Frame_Shift_Del_p.I536fs|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Frame_Shift_Del_p.I13fs	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	536					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAAACAAACATTTCCAAGACA	0.502																																																0													115	105	108					18																	43246949		2203	4300	6503	SO:0001589	frameshift_variant	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1607delT	18.37:g.43246949delT	ENSP00000255226:p.Ile536fs		A8K8Q7|Q2TBD6|Q96PH5	Frame_Shift_Del	DEL	ENST00000255226.6	37	CCDS11924.1																																																																																				0.502	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			-	43246949	T	-	43246949	7	5	557	1	0	1	0	1	0	0	0	0	14403	1493	52	0	1653	0	SLC14A2	18	43246949	Frame_Shift_Del	DEL	T	TCGA-CJ-6033-01A-11D-1669-08	19627651	43246949	34830299	69	30153	218	2									
SLC14A2	8170	hgsc.bcm.edu	37	18	43246952	43246952	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr18:43246952C>A	ENST00000255226.6	+	13	2426	c.1610C>A	c.(1609-1611)tCc>tAc	p.S537Y	SLC14A2_ENST00000586448.1_Missense_Mutation_p.S537Y|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.S14Y	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	537					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAACATTTCCAAGACATCC	0.507																																																0													112	102	105					18																	43246952		2203	4300	6503	SO:0001583	missense	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1610C>A	18.37:g.43246952C>A	ENSP00000255226:p.Ser537Tyr		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438882	0.25900	.	.	ENSG00000132874	ENST00000255226	T	0.35789	1.29	4.24	4.24	0.50183	.	0.597682	0.14974	N	0.287656	T	0.36717	0.0977	L	0.56769	1.78	0.26454	N	0.975557	P	0.40875	0.731	B	0.39738	0.308	T	0.34750	-0.9816	10	0.66056	D	0.02	-16.6145	11.443	0.50107	0.1807:0.8193:0.0:0.0	.	537	Q15849	UT2_HUMAN	Y	537	ENSP00000255226:S537Y	ENSP00000255226:S537Y	S	+	2	0	SLC14A2	41500950	0.010000	0.17322	0.201000	0.23476	0.187000	0.23431	2.088000	0.41663	2.180000	0.69256	0.561000	0.74099	TCC		0.507	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			A	43246952	C	A	43246952	3	1	557	1	0	0	0	0	1	0	0	0	14403	855	30	4	1656	4	SLC14A2	18	43246952	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	3	43246952	34830296	70	30154	218	2									
DCC	1630	broad.mit.edu;ucsc.edu	37	18	50994332	50994332	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr18:50994332C>A	ENST00000442544.2	+	25	4304	c.3688C>A	c.(3688-3690)Ccc>Acc	p.P1230T	DCC_ENST00000581580.1_Missense_Mutation_p.P865T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1230					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P1230T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACGCCGAGCCCCCCGGGCCAA	0.507																																																1	Substitution - Missense(1)	kidney(1)											84	81	82					18																	50994332		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3688C>A	18.37:g.50994332C>A	ENSP00000389140:p.Pro1230Thr			Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592197	0.28357	.	.	ENSG00000187323	ENST00000442544	T	0.38722	1.12	4.95	2.52	0.30459	Neogenin, C-terminal (1);	0.069622	0.56097	N	0.000036	T	0.12008	0.0292	N	0.00347	-1.61	0.42602	D	0.993288	B	0.02656	0.0	B	0.01281	0.0	T	0.06917	-1.0800	10	0.23302	T	0.38	.	11.2533	0.49039	0.6943:0.3057:0.0:0.0	.	1230	P43146	DCC_HUMAN	T	1230	ENSP00000389140:P1230T	ENSP00000389140:P1230T	P	+	1	0	DCC	49248330	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	4.422000	0.59854	0.304000	0.22809	-0.271000	0.10264	CCC		0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		A	50994332	C	A	50994332	3	1	557	1	0	0	0	0	1	0	0	0	4284	623	22	4	3786	4	DCC	18	50994332	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	7747380	50994332	27082916	71	30155											
ZNF793	390927	broad.mit.edu	37	19	38027920	38027920	+	Silent	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr19:38027920G>A	ENST00000587143.1	+	6	595	c.360G>A	c.(358-360)ggG>ggA	p.G120G	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000445217.1_Silent_p.G120G|ZNF793_ENST00000542455.1_Silent_p.G120G|ZNF793_ENST00000589319.1_Silent_p.G120G			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G120G(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATAAGTTTGGGAAAATATCAC	0.408																																					Melanoma(44;400 1431 1499 19093)											1	Substitution - coding silent(1)	kidney(1)											58	60	59					19																	38027920		1833	4095	5928	SO:0001819	synonymous_variant	390927			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.360G>A	19.37:g.38027920G>A			E9PGN4|Q7Z3Q9	Silent	SNP	ENST00000587143.1	37	CCDS46062.1																																																																																				0.408	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		A	38027920	G	A	38027920	2	1	557	1	0	0	0	0	0	0	0	1	18170	1161	41	2		2	ZNF793	19	38027920	Silent	SNP	G	TCGA-CJ-6033-01A-11D-1669-08		38027920	21101063	72	30156											
CEACAM3	1084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42301589	42301589	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr19:42301589G>A	ENST00000357396.3	+	2	374	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	CEACAM3_ENST00000344550.4_Missense_Mutation_p.V45I|CEACAM3_ENST00000221999.4_Missense_Mutation_p.V45I|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	45	Ig-like V-type.					integral component of membrane (GO:0016021)		p.V45I(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GCCGCTCAGTGTCGCAGAGGG	0.517																																																1	Substitution - Missense(1)	kidney(1)											165	152	156					19																	42301589		2203	4300	6503	SO:0001583	missense	1084			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.133G>A	19.37:g.42301589G>A	ENSP00000349971:p.Val45Ile		G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301532	0.40694	.	.	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.70986	-0.53;-0.53;-0.53	3.44	2.39	0.29439	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80127	0.4566	M	0.76328	2.33	0.09310	N	1	P;P	0.46457	0.878;0.858	P;D	0.64042	0.832;0.921	T	0.66748	-0.5845	9	0.59425	D	0.04	.	6.8405	0.23961	0.1381:0.0:0.8619:0.0	.	45;45	G5E978;P40198	.;CEAM3_HUMAN	I	45	ENSP00000349971:V45I;ENSP00000221999:V45I;ENSP00000341725:V45I	ENSP00000221999:V45I	V	+	1	0	CEACAM3	46993429	0.025000	0.19082	0.001000	0.08648	0.005000	0.04900	1.637000	0.37155	0.566000	0.29273	0.514000	0.50259	GTC		0.517	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		A	42301589	G	A	42301589	3	1	557	1	0	0	0	0	1	0	0	0	3195	1377	48	2	139	2	CEACAM3	19	42301589	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	4273669	42301589	16827394	73	30157											
LILRB4	11006	broad.mit.edu	37	19	55176277	55176277	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr19:55176277C>T	ENST00000391736.1	+	7	998	c.683C>T	c.(682-684)cCc>cTc	p.P228L	LILRB4_ENST00000391734.3_Missense_Mutation_p.P228L|LILRB4_ENST00000391733.3_Missense_Mutation_p.P228L|LILRB4_ENST00000270452.2_Missense_Mutation_p.P228L|LILRB4_ENST00000430952.2_Missense_Mutation_p.P228L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	228					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P228L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGGCCCTCACCCACAAGGTCC	0.557																																																1	Substitution - Missense(1)	kidney(1)											74	63	67					19																	55176277		2203	4300	6503	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.683C>T	19.37:g.55176277C>T	ENSP00000375616:p.Pro228Leu		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	6.955	0.546146	0.13312	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00512	6.96;6.96;6.95;6.89;6.97;7.03	2.47	-1.16	0.09678	.	.	.	.	.	T	0.00468	0.0015	L	0.55017	1.72	0.09310	N	1	B;P;B;P;P	0.45715	0.006;0.63;0.057;0.583;0.865	B;B;B;B;B	0.42188	0.014;0.334;0.032;0.312;0.379	T	0.46205	-0.9208	9	0.62326	D	0.03	.	2.1281	0.03743	0.2532:0.43:0.0:0.3168	.	228;228;228;228;228	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	L	228	ENSP00000375616:P228L;ENSP00000270452:P228L;ENSP00000408995:P228L;ENSP00000375614:P228L;ENSP00000375613:P228L;ENSP00000401962:P228L	ENSP00000270452:P228L	P	+	2	0	LILRB4	59868089	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.284000	0.02793	-0.191000	0.10448	-0.192000	0.12808	CCC		0.557	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			T	55176277	C	T	55176277	3	4	557	1	0	0	0	0	1	0	0	0	8795	623	22	2	701	2	LILRB4	19	55176277	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	12874688	55176277	3952706	74	30158											
MYLK2	85366	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30418677	30418677	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr20:30418677T>G	ENST00000375994.2	+	8	1553	c.1280T>G	c.(1279-1281)tTt>tGt	p.F427C	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.F427C			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	427	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.F427C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCATTGACTTTGGCCTGGCA	0.617																																																1	Substitution - Missense(1)	kidney(1)											134	131	132					20																	30418677		2203	4300	6503	SO:0001583	missense	85366			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1280T>G	20.37:g.30418677T>G	ENSP00000365162:p.Phe427Cys		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460963	0.63513	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.74002	-0.8;-0.8	3.76	3.76	0.43208	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.91030	0.7178	H	0.98818	4.34	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.93493	0.6837	9	0.87932	D	0	.	12.0947	0.53748	0.0:0.0:0.0:1.0	.	427	Q9H1R3	MYLK2_HUMAN	C	427	ENSP00000365162:F427C;ENSP00000365152:F427C	ENSP00000365152:F427C	F	+	2	0	MYLK2	29882338	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	6.006000	0.70724	1.678000	0.50952	0.459000	0.35465	TTT		0.617	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		G	30418677	T	G	30418677	3	3	557	1	0	0	0	0	1	0	0	0	10059	1841	64	5	1310	5	MYLK2	20	30418677	Missense_Mutation	SNP	T	TCGA-CJ-6033-01A-11D-1669-08		30418677	32606843	75	30159											
APOL5	80831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	36123236	36123236	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chr22:36123236C>G	ENST00000249044.2	+	3	1121	c.1121C>G	c.(1120-1122)cCa>cGa	p.P374R		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	374					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.P374R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GTGGTTAAACCAGAAGGTAGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											42	46	45					22																	36123236		2194	4287	6481	SO:0001583	missense	80831			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1121C>G	22.37:g.36123236C>G	ENSP00000249044:p.Pro374Arg		Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	C	5.947	0.358791	0.11239	.	.	ENSG00000128313	ENST00000249044	T	0.06371	3.31	1.94	-0.296	0.12824	.	3.921800	0.02219	N	0.063822	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	P	0.52842	0.956	P	0.53360	0.724	T	0.14008	-1.0488	10	0.87932	D	0	.	3.1134	0.06366	0.0:0.5307:0.2874:0.1819	.	374	Q9BWW9	APOL5_HUMAN	R	374	ENSP00000249044:P374R	ENSP00000249044:P374R	P	+	2	0	APOL5	34453182	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-1.089000	0.03376	0.001000	0.14605	0.462000	0.41574	CCA		0.597	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		G	36123236	C	G	36123236	3	3	557	1	0	0	0	0	1	0	0	0	809	594	21	4	1131	4	APOL5	22	36123236	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08		36123236	15181330	76	30160											
DUSP21	63904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	44703517	44703517	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chrX:44703517C>T	ENST00000339042.4	+	1	269	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	47	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R47C(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GTCCAGCAATCGCATCACCGC	0.522																																																2	Substitution - Missense(2)	breast(1)|kidney(1)											152	116	128					X																	44703517		2203	4300	6503	SO:0001583	missense	63904			AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.139C>T	X.37:g.44703517C>T	ENSP00000343244:p.Arg47Cys		Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	ENST00000339042.4	37	CCDS14264.1	.	.	.	.	.	.	.	.	.	.	c	10.70	1.423115	0.25639	.	.	ENSG00000189037	ENST00000339042;ENST00000537377	T	0.60797	0.16	3.82	0.892	0.19230	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.845136	0.11219	N	0.586866	T	0.61813	0.2377	L	0.41573	1.285	0.09310	N	1	D	0.76494	0.999	P	0.59703	0.862	T	0.53961	-0.8364	10	0.62326	D	0.03	.	10.4008	0.44229	0.6877:0.3122:0.0:0.0	.	47	Q9H596	DUS21_HUMAN	C	47	ENSP00000343244:R47C	ENSP00000343244:R47C	R	+	1	0	DUSP21	44588461	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.784000	0.26816	0.057000	0.16193	-0.227000	0.12334	CGC		0.522	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		T	44703517	C	T	44703517	3	4	557	1	0	0	0	0	1	0	0	0	4822	884	31	1	141	1	DUSP21	23	44703517	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08		44703517	110567043	77	30161											
SPIN3	169981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	57020876	57020876	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chrX:57020876C>G	ENST00000374919.3	-	2	827	c.505G>C	c.(505-507)Gat>Cat	p.D169H		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	169					gamete generation (GO:0007276)			p.D169H(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						AATACAGGATCTTTCTCATAG	0.423																																																1	Substitution - Missense(1)	kidney(1)											95	94	94					X																	57020876		2162	4247	6409	SO:0001583	missense	169981			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.505G>C	X.37:g.57020876C>G	ENSP00000364054:p.Asp169His		B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233384	0.58886	.	.	ENSG00000204271	ENST00000374919	T	0.55588	0.51	2.72	2.72	0.32119	.	0.000000	0.64402	U	0.000008	T	0.67050	0.2852	M	0.66297	2.02	0.41200	D	0.986367	D	0.89917	1.0	D	0.87578	0.998	T	0.71111	-0.4687	10	0.87932	D	0	-5.3815	10.7756	0.46348	0.0:1.0:0.0:0.0	.	169	Q5JUX0	SPIN3_HUMAN	H	169	ENSP00000364054:D169H	ENSP00000364054:D169H	D	-	1	0	SPIN3	57037601	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.503000	0.60407	1.659000	0.50751	0.600000	0.82982	GAT		0.423	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		G	57020876	C	G	57020876	3	3	557	1	0	0	0	0	1	0	0	0	15060	913	32	4	275	4	SPIN3	23	57020876	Missense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	12317359	57020876	98249684	78	30162											
KIAA2022	340533	broad.mit.edu;ucsc.edu	37	X	73961521	73961521	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chrX:73961521T>A	ENST00000055682.6	-	3	3482	c.2871A>T	c.(2869-2871)caA>caT	p.Q957H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	957					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.Q957H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAGATGGGAGTTGGGTATCTT	0.433																																																1	Substitution - Missense(1)	kidney(1)											168	146	154					X																	73961521		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2871A>T	X.37:g.73961521T>A	ENSP00000055682:p.Gln957His		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	4.614	0.114168	0.08831	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32272	1.46;1.46	5.58	-2.87	0.05700	.	0.519884	0.22332	N	0.061457	T	0.12944	0.0314	N	0.16478	0.41	0.28777	N	0.900037	B	0.16166	0.016	B	0.14023	0.01	T	0.30327	-0.9982	10	0.13853	T	0.58	-0.29	6.8323	0.23917	0.1976:0.5071:0.0:0.2953	.	957	Q5QGS0	K2022_HUMAN	H	957	ENSP00000362567:Q957H;ENSP00000055682:Q957H	ENSP00000055682:Q957H	Q	-	3	2	KIAA2022	73878246	0.056000	0.20664	0.065000	0.19835	0.296000	0.27459	-0.629000	0.05508	-1.314000	0.02300	0.486000	0.48141	CAA		0.433	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		A	73961521	T	A	73961521	3	1	557	1	0	0	0	0	1	0	0	0	8271	1722	60	5	1687	5	KIAA2022	23	73961521	Missense_Mutation	SNP	T	TCGA-CJ-6033-01A-11D-1669-08	16940645	73961521	81309039	79	30163											
GLRA4	203562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	102968576	102968576	+	Nonsense_Mutation	SNP	C	C	T	rs369865427		TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chrX:102968576C>T	ENST00000319560.6	+	3	348	c.157C>T	c.(157-159)Cga>Tga	p.R53*	GLRA4_ENST00000372617.4_Missense_Mutation_p.D319N	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	53						integral component of membrane (GO:0016021)		p.R53*(1)|p.D319N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						ATCCAGATGTCGATTGCCTTC	0.473																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	kidney(2)						C	ASN/ASP,stop/ARG	0,3835		0,0,0,1632,571	220	157	178		955,157	5.5	1	X		178	1,6727		0,0,1,2428,1871	no	missense,stop-gained	TMEM31,GLRA4	NM_001024452.2,NM_182541.2	23,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging,	319/418,53/169	102968576	1,10562	2203	4300	6503	SO:0001587	stop_gained	203562			BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.157C>T	X.37:g.102968576C>T	ENSP00000316940:p.Arg53*		Q8NHR4	Nonsense_Mutation	SNP	ENST00000319560.6	37	CCDS35359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.766014|6.766014	0.97821|0.97821	0.0|0.0	1.49E-4|1.49E-4	ENSG00000188828|ENSG00000179363	ENST00000372617|ENST00000319560	D|.	0.88124|.	-2.34|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Neurotransmitter-gated ion-channel transmembrane domain (2);|.	0.047005|.	0.85682|.	D|.	0.000000|.	T|.	0.43299|.	0.1241|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|.	0.34825|.	-0.9813|.	9|.	0.87932|0.02654	D|T	0|1	0.8713|0.8713	15.6855|15.6855	0.77405|0.77405	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	319|.	Q5JXX5|.	GLRA4_HUMAN|.	N|X	319|53	ENSP00000361700:D319N|.	ENSP00000361700:D319N|ENSP00000316940:R53X	D|R	-|+	1|1	0|2	GLRA4|TMEM31	102855232|102855232	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.299000|2.299000	0.77371|0.77371	0.523000|0.523000	0.50628|0.50628	GAC|CGA		0.473	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		T	102968576	C	T	102968576	4	4	557	1	0	0	0	0	0	1	0	0	6459	885	31	1	305	1	GLRA4	23	102968576	Nonsense_Mutation	SNP	C	TCGA-CJ-6033-01A-11D-1669-08	29007055	102968576	52301984	80	30164											
DOCK11	139818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	117700143	117700143	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chrX:117700143A>T	ENST00000276202.7	+	8	932	c.869A>T	c.(868-870)cAa>cTa	p.Q290L	DOCK11_ENST00000276204.6_Missense_Mutation_p.Q290L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	290					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q290L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GAAACAGCACAAGGTCAGAAT	0.368																																																1	Substitution - Missense(1)	kidney(1)											69	68	68					X																	117700143		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.869A>T	X.37:g.117700143A>T	ENSP00000276202:p.Gln290Leu		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	8.255	0.809969	0.16537	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.03124	4.04;4.04	5.48	5.48	0.80851	.	0.259259	0.38548	N	0.001645	T	0.03136	0.0092	N	0.25286	0.73	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.52290	-0.8595	10	0.21014	T	0.42	-30.9266	10.9523	0.47336	0.8457:0.1543:0.0:0.0	.	290;290	A6NIW2;Q5JSL3	.;DOC11_HUMAN	L	290	ENSP00000276204:Q290L;ENSP00000276202:Q290L	ENSP00000276202:Q290L	Q	+	2	0	DOCK11	117584171	1.000000	0.71417	0.996000	0.52242	0.741000	0.42261	2.749000	0.47492	1.837000	0.53436	0.345000	0.21793	CAA		0.368	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		T	117700143	A	T	117700143	3	4	557	1	0	0	0	0	1	0	0	0	4688	130	5	5	899	5	DOCK11	23	117700143	Missense_Mutation	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	14731567	117700143	37570417	81	30165											
DOCK11	139818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	117819736	117819736	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chrX:117819736G>A	ENST00000276202.7	+	53	6251	c.6188G>A	c.(6187-6189)cGa>cAa	p.R2063Q	DOCK11_ENST00000276204.6_Missense_Mutation_p.R2067Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2063					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R2063Q(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCAAGTGACCGAGGTTATGGT	0.403																																																1	Substitution - Missense(1)	kidney(1)											205	173	184					X																	117819736		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.6188G>A	X.37:g.117819736G>A	ENSP00000276202:p.Arg2063Gln		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429736	0.43122	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.17213	2.29;2.29	6.17	5.31	0.75309	.	0.075295	0.56097	D	0.000029	T	0.10551	0.0258	N	0.08118	0	0.25675	N	0.985856	B;B	0.24882	0.113;0.113	B;B	0.20184	0.028;0.028	T	0.18116	-1.0347	10	0.39692	T	0.17	-13.8559	15.6202	0.76799	0.0:0.1336:0.8664:0.0	.	2067;2063	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Q	2067;2063	ENSP00000276204:R2067Q;ENSP00000276202:R2063Q	ENSP00000276202:R2063Q	R	+	2	0	DOCK11	117703764	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.581000	0.53914	1.340000	0.45581	0.600000	0.82982	CGA		0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		A	117819736	G	A	117819736	3	1	557	1	0	0	0	0	1	0	0	0	4688	1058	37	1	6398	1	DOCK11	23	117819736	Missense_Mutation	SNP	G	TCGA-CJ-6033-01A-11D-1669-08	119593	117819736	37450824	82	30166											
MMGT1	93380	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135047254	135047254	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-6033-01A-11D-1669-08	TCGA-CJ-6033-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c7ce9042-f63c-4a93-a82d-f21977bd9bcb	6ddcf971-b6b2-4ea9-a14e-22451f4b519e	g.chrX:135047254A>T	ENST00000305963.2	-	4	712	c.325T>A	c.(325-327)Tct>Act	p.S109T	MMGT1_ENST00000433339.2_Missense_Mutation_p.S174T	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	109					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)	p.S109T(1)		cervix(1)|endometrium(1)|kidney(1)	3						TGGTTTGAAGAATTTGCTGTA	0.363																																																1	Substitution - Missense(1)	kidney(1)											204	188	193					X																	135047254		2203	4300	6503	SO:0001583	missense	93380			AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"ER membrane protein complex subunit 5"		"transmembrane protein 32"	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.325T>A	X.37:g.135047254A>T	ENSP00000306220:p.Ser109Thr		B2R625|B4DIY3|D3DWG7|Q5JPP7	Missense_Mutation	SNP	ENST00000305963.2	37	CCDS14653.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.632510	0.46944	.	.	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.67	1.67	0.24075	.	0.272970	0.43416	N	0.000570	T	0.18257	0.0438	L	0.27053	0.805	0.28785	N	0.89962	B;B	0.29037	0.01;0.231	B;B	0.19946	0.011;0.027	T	0.09574	-1.0668	9	0.28530	T	0.3	.	3.996	0.09558	0.6681:0.1243:0.0738:0.1338	.	174;109	Q8N4V1-2;Q8N4V1	.;MMGT1_HUMAN	T	109;174	.	ENSP00000306220:S109T	S	-	1	0	MMGT1	134874920	1.000000	0.71417	0.920000	0.36463	0.961000	0.63080	2.117000	0.41939	0.271000	0.22005	0.486000	0.48141	TCT		0.363	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058453.3	NM_173470		T	135047254	A	T	135047254	3	4	557	1	0	0	0	0	1	0	0	0	9649	246	9	5	74	5	MMGT1	23	135047254	Missense_Mutation	SNP	A	TCGA-CJ-6033-01A-11D-1669-08	17227518	135047254	20223306	83	30167											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11169375	11169375	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr1:11169375A>C	ENST00000361445.4	-	56	7576	c.7500T>G	c.(7498-7500)atT>atG	p.I2500M	MTOR_ENST00000376838.1_Missense_Mutation_p.I705M	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2500	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.I2500M(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCCTGTTAATAATCTGGATAG	0.408																																																1	Substitution - Missense(1)	kidney(1)											177	156	163					1																	11169375		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7500T>G	1.37:g.11169375A>C	ENSP00000354558:p.Ile2500Met		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123062	0.77436	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.29917	3.08;2.85;1.55	5.82	-2.33	0.06724	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.047538	0.85682	D	0.000000	T	0.48447	0.1500	M	0.87328	2.875	0.53005	D	0.999969	D	0.71674	0.998	D	0.66497	0.944	T	0.45948	-0.9226	10	0.87932	D	0	-10.0412	4.8813	0.13681	0.3927:0.0:0.3693:0.238	.	2500	P42345	MTOR_HUMAN	M	2500;705;156	ENSP00000354558:I2500M;ENSP00000366034:I705M;ENSP00000398745:I156M	ENSP00000354558:I2500M	I	-	3	3	MTOR	11091962	0.935000	0.31712	0.970000	0.41538	0.992000	0.81027	0.184000	0.16939	-0.709000	0.05008	0.482000	0.46254	ATT		0.408	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		C	11169375	A	C	11169375	3	2	558	1	0	0	0	0	1	0	0	0	9956	358	13	5	161	5	MTOR	1	11169375	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08		11169375	238081246	1	30168											
SYNC	81493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33149611	33149611	+	Splice_Site	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr1:33149611C>T	ENST00000409190.3	-	4	1896	c.1438G>A	c.(1438-1440)Ggg>Agg	p.G480R	SYNC_ENST00000373484.3_Intron|RBBP4_ENST00000373493.5_3'UTR	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	480	Tail.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)	p.G480R(1)|p.G149R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAAAGATCACCTTGAGACTGT	0.478																																																2	Substitution - Missense(2)	kidney(2)											298	298	298					1																	33149611		2203	4300	6503	SO:0001630	splice_region_variant	81493			AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"Intermediate filaments type III"	28897	protein-coding gene	gene with protein product		611750	"syncoilin, intermediate filament 1"	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1438+1G>A	1.37:g.33149611C>T			B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	CCDS367.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294391	0.81025	.	.	ENSG00000162520	ENST00000409190	D	0.97811	-4.55	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000009	D	0.97315	0.9122	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96416	0.9308	9	.	.	.	-23.267	15.7376	0.77859	0.0:1.0:0.0:0.0	.	480	Q9H7C4	SYNCI_HUMAN	R	480	ENSP00000386439:G480R	.	G	-	1	0	SYNC	32922198	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.231000	0.43009	2.873000	0.98535	0.561000	0.74099	GGG		0.478	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786	Missense_Mutation	T	33149611	C	T	33149611	5	4	558	1	0	0	0	0	0	0	1	0	15448	695	24	2	80	2	SYNC	1	33149611	Splice_Site	SNP	C	TCGA-CW-5580-01A-01D-1669-08	21980236	33149611	216101010	2	30169											
RIMKLA	284716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	42880337	42880337	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr1:42880337G>A	ENST00000431473.3	+	5	997	c.868G>A	c.(868-870)Gat>Aat	p.D290N		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	290	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.D249N(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ATGCAACTTAGATGTGGGTGG	0.502																																																1	Substitution - Missense(1)	kidney(1)											247	223	231					1																	42880337		2203	4300	6503	SO:0001583	missense	284716			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.868G>A	1.37:g.42880337G>A	ENSP00000414330:p.Asp290Asn		Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	CCDS466.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971126	0.74246	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.23	5.23	0.72850	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	L	0.42686	1.345	0.80722	D	1	P	0.51449	0.945	P	0.55545	0.778	T	0.62709	-0.6797	9	0.40728	T	0.16	-29.6406	16.306	0.82848	0.0:0.0:1.0:0.0	.	290	Q8IXN7	RIMKA_HUMAN	N	290	.	ENSP00000414330:D290N	D	+	1	0	RIMKLA	42652924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.297000	0.96120	2.447000	0.82792	0.561000	0.74099	GAT		0.502	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		A	42880337	G	A	42880337	3	1	558	1	0	0	0	0	1	0	0	0	13371	942	33	2	886	2	RIMKLA	1	42880337	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	9730726	42880337	206370284	3	30170											
USP33	23032	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78195568	78195568	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr1:78195568T>C	ENST00000370793.1	-	10	1133	c.787A>G	c.(787-789)Aca>Gca	p.T263A	USP33_ENST00000370792.3_Missense_Mutation_p.T263A|USP33_ENST00000370794.3_Missense_Mutation_p.T232A|USP33_ENST00000357428.1_Missense_Mutation_p.T263A	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	263	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.T263A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CCCCGAAATGTTGGATTTACA	0.308																																					Melanoma(152;72 1870 11110 26780 42647)											1	Substitution - Missense(1)	kidney(1)											85	92	90					1																	78195568		2203	4300	6503	SO:0001583	missense	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.787A>G	1.37:g.78195568T>C	ENSP00000359829:p.Thr263Ala		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702646	0.48307	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.32	4.03	0.46877	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.087082	0.85682	D	0.000000	T	0.07098	0.0180	N	0.17594	0.5	0.33544	D	0.595191	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.002;0.002;0.004	T	0.18555	-1.0333	10	0.22706	T	0.39	.	8.6762	0.34181	0.0:0.1614:0.0:0.8386	.	263;232;263	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	A	232;263;263;263	ENSP00000359830:T232A;ENSP00000359829:T263A;ENSP00000350009:T263A;ENSP00000359828:T263A	ENSP00000350009:T263A	T	-	1	0	USP33	77968156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.568000	0.45965	2.152000	0.67230	0.528000	0.53228	ACA		0.308	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		C	78195568	T	C	78195568	3	2	558	1	0	0	0	0	1	0	0	0	17069	1725	60	3	2117	3	USP33	1	78195568	Missense_Mutation	SNP	T	TCGA-CW-5580-01A-01D-1669-08	35315231	78195568	171055053	4	30171											
ST7L	54879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113098583	113098583	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr1:113098583C>T	ENST00000358039.4	-	12	1607	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Missense_Mutation_p.D435N|ST7L_ENST00000544629.1_Missense_Mutation_p.D370N|ST7L_ENST00000360743.4_Missense_Mutation_p.D435N|ST7L_ENST00000538187.1_Missense_Mutation_p.D379N|ST7L_ENST00000490067.1_Missense_Mutation_p.D418N|ST7L_ENST00000343210.7_Missense_Mutation_p.D435N|ST7L_ENST00000369669.1_Missense_Mutation_p.D252N|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000369666.1_Missense_Mutation_p.D418N	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	435					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)		p.D435N(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTCACTATCACCCCGTTTC	0.368																																																1	Substitution - Missense(1)	kidney(1)											118	108	112					1																	113098583		2203	4300	6503	SO:0001583	missense	54879			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1303G>A	1.37:g.113098583C>T	ENSP00000350734:p.Asp435Asn		A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	CCDS848.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436330	0.96168	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187	T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0	T	0.61505	-0.7049	10	0.87932	D	0	-15.273	19.1881	0.93653	0.0:1.0:0.0:0.0	.	379;370;370;435;418;418;435;435	B7Z7D4;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.;.;.;.;.;.;.;ST7L_HUMAN	N	435;435;216;370;252;418;435;435;418;379	ENSP00000350734:D435N;ENSP00000353972:D435N;ENSP00000445499:D370N;ENSP00000358683:D252N;ENSP00000417140:D418N;ENSP00000358682:D435N;ENSP00000345312:D435N;ENSP00000358680:D418N;ENSP00000444021:D379N	ENSP00000345312:D435N	D	-	1	0	ST7L	112900106	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.814000	0.86154	2.625000	0.88918	0.585000	0.79938	GAT		0.368	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			T	113098583	C	T	113098583	3	4	558	1	0	0	0	0	1	0	0	0	15235	826	29	2	479	2	ST7L	1	113098583	Missense_Mutation	SNP	C	TCGA-CW-5580-01A-01D-1669-08	34903015	113098583	136152038	5	30172											
TRIM33	51592	hgsc.bcm.edu;ucsc.edu	37	1	114948266	114948267	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr1:114948266_114948267insT	ENST00000358465.2	-	15	2616_2617	c.2533_2534insA	c.(2533-2535)atgfs	p.M845fs	TRIM33_ENST00000450349.2_Frame_Shift_Ins_p.M477fs|TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Frame_Shift_Ins_p.M845fs	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	845					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTTCATTCATATCTGCAGGT	0.48			T	RET	papillary thyroid																																		Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	0																																										SO:0001589	frameshift_variant	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2534dupA	1.37:g.114948267_114948267dupT	ENSP00000351250:p.Met845fs		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Frame_Shift_Ins	INS	ENST00000358465.2	37	CCDS872.1																																																																																				0.48	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		T	114948267	-	T	114948266	7	5	558	1	0	1	1	0	0	0	0	0	16512	217	8	0	873	0	TRIM33	1	114948266	Frame_Shift_Ins	INS	-	TCGA-CW-5580-01A-01D-1669-08	1849683	114948266	134302355	6	30173											
TTC24	164118	broad.mit.edu;hgsc.bcm.edu	37	1	156553240	156553240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr1:156553240C>T	ENST00000368237.3	+	4	1150	c.1150C>T	c.(1150-1152)Cag>Tag	p.Q384*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.Q384*|TTC24_ENST00000478081.1_Intron			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	384								p.Q384*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCCAGTGTCAGGTGAGACC	0.597											OREG0013875	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	kidney(1)											24	27	26					1																	156553240		2016	4170	6186	SO:0001587	stop_gained	164118				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1150C>T	1.37:g.156553240C>T	ENSP00000357220:p.Gln384*	1779	Q5T3H7	Nonsense_Mutation	SNP	ENST00000368237.3	37	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	C	37	6.164580	0.97338	.	.	ENSG00000187862	ENST00000368236;ENST00000368237	.	.	.	5.24	5.24	0.73138	.	0.316812	0.23463	N	0.047911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-14.1332	15.6823	0.77381	0.0:1.0:0.0:0.0	.	.	.	.	X	384	.	ENSP00000357219:Q384X	Q	+	1	0	TTC24	154819864	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	4.306000	0.59117	2.739000	0.93911	0.555000	0.69702	CAG		0.597	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		T	156553240	C	T	156553240	4	4	558	1	0	0	0	0	0	1	0	0	16697	827	29	2	1164	2	TTC24	1	156553240	Nonsense_Mutation	SNP	C	TCGA-CW-5580-01A-01D-1669-08	41604974	156553240	92697381	7	30174											
COPA	1314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160310032	160310032	+	Silent	SNP	C	C	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr1:160310032C>A	ENST00000241704.7	-	2	322	c.93G>T	c.(91-93)ggG>ggT	p.G31G	COPA_ENST00000368069.3_Silent_p.G31G	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	31					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.G31G(2)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGATGACCCCATTATGTA	0.398																																																2	Substitution - coding silent(2)	kidney(2)											79	81	80					1																	160310032		2203	4300	6503	SO:0001819	synonymous_variant	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.93G>T	1.37:g.160310032C>A			Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	CCDS1202.1																																																																																				0.398	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		A	160310032	C	A	160310032	2	1	558	1	0	0	0	0	0	0	0	1	3729	610	22	4		4	COPA	1	160310032	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	3756792	160310032	88940589	8	30175											
CPSF3	51692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	9580730	9580730	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:9580730G>A	ENST00000238112.3	+	8	1077	c.871G>A	c.(871-873)Gac>Aac	p.D291N	CPSF3_ENST00000460593.1_Missense_Mutation_p.D254N	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	291					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.D291N(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGCCATGAATGACAAAATCCG	0.388																																					Colon(194;1259 2048 3845 5218 19985)											1	Substitution - Missense(1)	kidney(1)											186	162	170					2																	9580730		2203	4300	6503	SO:0001583	missense	51692			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.871G>A	2.37:g.9580730G>A	ENSP00000238112:p.Asp291Asn		O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472765	0.84640	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000427001;ENST00000460593	T;T	0.49139	0.79;0.79	5.36	5.36	0.76844	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	M	0.75447	2.3	0.80722	D	1	B;B	0.33212	0.402;0.075	B;P	0.44673	0.213;0.457	T	0.63829	-0.6548	10	0.56958	D	0.05	-27.3728	19.5055	0.95113	0.0:0.0:1.0:0.0	.	291;291	E7ER23;Q9UKF6	.;CPSF3_HUMAN	N	291;13;291;254	ENSP00000238112:D291N;ENSP00000418957:D254N	ENSP00000238112:D291N	D	+	1	0	CPSF3	9498181	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.747000	0.98863	2.672000	0.90937	0.551000	0.68910	GAC		0.388	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		A	9580730	G	A	9580730	3	1	558	1	0	0	0	0	1	0	0	0	3828	1290	45	2	901	2	CPSF3	2	9580730	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08		9580730	233618643	9	30176											
IFT172	26160	hgsc.bcm.edu;ucsc.edu	37	2	27702943	27702946	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	ATAA	ATAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:27702943_27702946delATAA	ENST00000260570.3	-	9	959_962	c.856_859delTTAT	c.(856-861)ttatacfs	p.LY286fs	IFT172_ENST00000416524.2_Frame_Shift_Del_p.LY265fs|IFT172_ENST00000359466.6_Frame_Shift_Del_p.LY286fs	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	286					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTGATGGTGTATAAATTGGTAATC	0.475																																																0																																										SO:0001589	frameshift_variant	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.856_859delTTAT	2.37:g.27702943_27702946delATAA	ENSP00000260570:p.Leu286fs		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	ENST00000260570.3	37	CCDS1755.1																																																																																				0.475	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		-	27702946	ATAA	-	27702943	7	5	558	1	0	1	0	1	0	0	0	0	7559	449	16	0	4550	0	IFT172	2	27702943	Frame_Shift_Del	DEL	ATAA	TCGA-CW-5580-01A-01D-1669-08	18122213	27702943	215496430	10	30177											
SUPT7L	9913	broad.mit.edu;hgsc.bcm.edu	37	2	27876614	27876614	+	Splice_Site	SNP	C	C	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:27876614C>G	ENST00000337768.5	-	6	1552	c.983G>C	c.(982-984)aGt>aCt	p.S328T	SUPT7L_ENST00000406540.1_Splice_Site_p.S326T|SUPT7L_ENST00000405491.1_Splice_Site_p.S326T|SUPT7L_ENST00000404798.2_Splice_Site_p.S193T|SUPT7L_ENST00000464789.2_Splice_Site_p.S326T	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	328					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.S328T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TACCTCTGCACCTAGAAACAG	0.433																																																1	Substitution - Missense(1)	kidney(1)											127	119	122					2																	27876614		1935	4148	6083	SO:0001630	splice_region_variant	9913			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.983-1G>C	2.37:g.27876614C>G			B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829457	0.50845	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	5.96	5.96	0.96718	.	0.133387	0.64402	D	0.000002	T	0.42988	0.1227	N	0.08118	0	0.38683	D	0.952592	B;B;B	0.18310	0.016;0.027;0.016	B;B;B	0.21546	0.01;0.035;0.015	T	0.31336	-0.9947	9	0.33141	T	0.24	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	193;326;328	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	T	328;326;326;326;193	.	ENSP00000336750:S328T	S	-	2	0	SUPT7L	27730118	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.816000	0.55658	2.832000	0.97577	0.655000	0.94253	AGT		0.433	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860	Missense_Mutation	G	27876614	C	G	27876614	5	3	558	1	0	0	0	0	0	0	1	0	15406	521	18	4	265	4	SUPT7L	2	27876614	Splice_Site	SNP	C	TCGA-CW-5580-01A-01D-1669-08	173671	27876614	215322759	11	30178											
XDH	7498	broad.mit.edu;ucsc.edu	37	2	31598321	31598321	+	Silent	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:31598321G>A	ENST00000379416.3	-	15	1575	c.1527C>T	c.(1525-1527)tgC>tgT	p.C509C		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	509					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.C509C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GGGTGAGGGTGCACCGGAAGT	0.612																																					Colon(66;682 1445 30109 40147)											1	Substitution - coding silent(1)	kidney(1)											95	90	91					2																	31598321		2203	4300	6503	SO:0001819	synonymous_variant	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1527C>T	2.37:g.31598321G>A			Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	CCDS1775.1																																																																																				0.612	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		A	31598321	G	A	31598321	2	1	558	1	0	0	0	0	0	0	0	1	17431	1311	46	2		2	XDH	2	31598321	Silent	SNP	G	TCGA-CW-5580-01A-01D-1669-08	3721707	31598321	211601052	12	30179											
ETAA1	54465	hgsc.bcm.edu;ucsc.edu	37	2	67637078	67637096	+	Frame_Shift_Del	DEL	GAAATTCAGAGAAAAAGAC	GAAATTCAGAGAAAAAGAC	-	rs561747318	byFrequency	TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	GAAATTCAGAGAAAAAGAC	GAAATTCAGAGAAAAAGAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:67637078_67637096delGAAATTCAGAGAAAAAGAC	ENST00000272342.5	+	6	2819_2837	c.2689_2707delGAAATTCAGAGAAAAAGAC	c.(2689-2709)gaaattcagagaaaaagacaafs	p.EIQRKRQ897fs		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	897						cytoplasm (GO:0005737)		p.R902S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTCTCCTGAAGAAATTCAGAGAAAAAGACAAGAAGCACT	0.347																																																1	Substitution - Missense(1)	ovary(1)																																								SO:0001589	frameshift_variant	54465			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2689_2707delGAAATTCAGAGAAAAAGAC	2.37:g.67637078_67637096delGAAATTCAGAGAAAAAGAC	ENSP00000272342:p.Glu897fs		Q05BT7|Q53SC4	Frame_Shift_Del	DEL	ENST00000272342.5	37	CCDS1882.1																																																																																				0.347	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		-	67637096	GAAATTCAGAGAAAAAGAC	-	67637078	7	5	558	1	0	1	0	1	0	0	0	0	5269	943	33	0	2711	0	ETAA1	2	67637078	Frame_Shift_Del	DEL	GAAATTCAGAGAAAAAGAC	TCGA-CW-5580-01A-01D-1669-08	36038757	67637078	175562295	13	30180											
CLASP1	23332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	122168512	122168512	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:122168512G>A	ENST00000263710.4	-	24	2743	c.2354C>T	c.(2353-2355)cCt>cTt	p.P785L	CLASP1_ENST00000541859.1_Missense_Mutation_p.P518L|CLASP1_ENST00000541377.1_Missense_Mutation_p.P756L|CLASP1_ENST00000397587.3_Missense_Mutation_p.P757L|CLASP1_ENST00000545861.1_Missense_Mutation_p.P525L|CLASP1_ENST00000455322.2_Missense_Mutation_p.P749L|CLASP1_ENST00000409078.3_Missense_Mutation_p.P749L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	785	Interaction with microtubules, MAPRE1 and MAPRE3.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.P785L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CACAGAACCAGGTATTCTTCC	0.408																																																1	Substitution - Missense(1)	kidney(1)											96	88	91					2																	122168512		1896	4127	6023	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2354C>T	2.37:g.122168512G>A	ENSP00000263710:p.Pro785Leu		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	G	22.8	4.341585	0.81911	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000463621	T;T;T;T;T;T	0.49139	2.19;2.11;2.15;2.0;0.79;2.14	5.67	5.67	0.87782	Armadillo-type fold (1);	0.149785	0.64402	D	0.000007	T	0.43456	0.1248	L	0.58101	1.795	0.80722	D	1	P;P;P;P	0.44195	0.501;0.828;0.704;0.611	B;B;B;B	0.33620	0.058;0.167;0.053;0.118	T	0.45249	-0.9274	10	0.38643	T	0.18	-9.0619	17.9504	0.89051	0.0:0.0:1.0:0.0	.	749;757;756;785	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	L	785;749;757;756;518;749;525;90	ENSP00000263710:P785L;ENSP00000389372:P749L;ENSP00000380717:P757L;ENSP00000441625:P756L;ENSP00000441770:P518L;ENSP00000386442:P749L	ENSP00000263710:P785L	P	-	2	0	CLASP1	121884982	1.000000	0.71417	0.934000	0.37439	0.996000	0.88848	9.302000	0.96175	2.680000	0.91292	0.563000	0.77884	CCT		0.408	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		A	122168512	G	A	122168512	3	1	558	1	0	0	0	0	1	0	0	0	3456	1000	35	2	2354	2	CLASP1	2	122168512	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	54531434	122168512	121030861	14	30181											
SCN3A	6328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	165952091	165952091	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:165952091A>G	ENST00000360093.3	-	25	4852	c.4361T>C	c.(4360-4362)tTt>tCt	p.F1454S	SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.F1405S|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.F1454S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1454					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.F1405S(1)|p.F1454S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATGACCCAAAGATGATAAA	0.284																																																2	Substitution - Missense(2)	kidney(2)											82	79	80					2																	165952091		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4361T>C	2.37:g.165952091A>G	ENSP00000353206:p.Phe1454Ser		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	A	29.8	5.033972	0.93575	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.98666	-5.06;-5.06;-5.06	5.25	5.25	0.73442	.	0.062442	0.64402	D	0.000009	D	0.99330	0.9765	M	0.93763	3.455	0.80722	D	1	D;D;B	0.69078	0.997;0.997;0.131	D;D;B	0.78314	0.991;0.991;0.32	D	0.98837	1.0753	10	0.87932	D	0	.	15.619	0.76790	1.0:0.0:0.0:0.0	.	1405;1405;1454	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	S	1454;1454;1405	ENSP00000353206:F1454S;ENSP00000283254:F1454S;ENSP00000386726:F1405S	ENSP00000283254:F1454S	F	-	2	0	SCN3A	165660337	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.087000	0.94110	2.333000	0.79357	0.482000	0.46254	TTT		0.284	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		G	165952091	A	G	165952091	3	3	558	1	0	0	0	0	1	0	0	0	13924	14	1	3	1657	3	SCN3A	2	165952091	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08	43783579	165952091	77247282	15	30182											
RBM45	129831	hgsc.bcm.edu	37	2	178977303	178977304	+	Frame_Shift_Ins	INS	-	-	G	rs146365140		TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:178977303_178977304insG	ENST00000286070.5	+	1	122_123	c.30_31insG	c.(31-33)gggfs	p.G11fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	11					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CTGCGAGCGGCGGGGGCTTCCG	0.644											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	129831			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"RNA binding motif (RRM) containing"	24468	protein-coding gene	gene with protein product	"developmentally regulated RNA binding protein 1"	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.35dupG	2.37:g.178977308_178977308dupG	ENSP00000286070:p.Gly11fs	1950	Q6NYL0|Q8NFC9	Frame_Shift_Ins	INS	ENST00000286070.5	37	CCDS33335.1																																																																																				0.644	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		G	178977304	-	G	178977303	7	5	558	1	0	1	1	0	0	0	0	0	13145	755	27	0	32	0	RBM45	2	178977303	Frame_Shift_Ins	INS	-	TCGA-CW-5580-01A-01D-1669-08	13025212	178977303	64222070	16	30183											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179416718	179416718	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:179416718G>T	ENST00000591111.1	-	285	86210	c.85986C>A	c.(85984-85986)aaC>aaA	p.N28662K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N27735K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N30303K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N21238K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N21363K|TTN_ENST00000342175.6_Missense_Mutation_p.N21430K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28662	Fibronectin type-III 108. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N21238K(1)|p.N21363K(1)|p.N27733K(1)|p.N27735K(1)|p.N21430K(1)		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)			CTCCGTATCTGTTTTCTGCTC	0.438																																																5	Substitution - Missense(5)	kidney(5)											118	124	122					2																	179416718		2157	4259	6416	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85986C>A	2.37:g.179416718G>T	ENSP00000465570:p.Asn28662Lys		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.87	2.367088	0.41902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.76	1.39	0.22231	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84065	0.5390	H	0.99090	4.425	0.50813	D	0.999892	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.86877	0.2039	9	0.87932	D	0	.	11.4274	0.50018	0.2902:0.0:0.7098:0.0	.	21238;21363;21430;28662	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	27735;21238;21430;21363;21235	ENSP00000343764:N27735K;ENSP00000434586:N21238K;ENSP00000340554:N21430K;ENSP00000352154:N21363K	ENSP00000340554:N21430K	N	-	3	2	TTN	179124964	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.178000	0.31981	0.353000	0.24079	0.655000	0.94253	AAC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179416718	G	T	179416718	3	4	558	1	0	0	0	0	1	0	0	0	16740	1368	48	4	17182	4	TTN	2	179416718	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	439415	179416718	63782655	17	30184											
GPR1	2825	hgsc.bcm.edu;ucsc.edu	37	2	207041953	207041953	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:207041953delT	ENST00000407325.2	-	3	381	c.19delA	c.(19-21)acafs	p.T7fs	GPR1_ENST00000437420.1_Frame_Shift_Del_p.T7fs	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	7					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TCAAATAATGTTTCCTCCAAA	0.328																																																0													48	54	52					2																	207041953		2202	4298	6500	SO:0001589	frameshift_variant	2825				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.19delA	2.37:g.207041953delT	ENSP00000384345:p.Thr7fs		A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Frame_Shift_Del	DEL	ENST00000407325.2	37	CCDS2368.1																																																																																				0.328	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		-	207041953	T	-	207041953	7	5	558	1	0	1	0	1	0	0	0	0	6623	1725	60	0	1052	0	GPR1	2	207041953	Frame_Shift_Del	DEL	T	TCGA-CW-5580-01A-01D-1669-08	27625235	207041953	36157420	18	30185											
SCG2	7857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	224462769	224462769	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:224462769G>T	ENST00000305409.2	-	2	1464	c.1232C>A	c.(1231-1233)tCc>tAc	p.S411Y		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.S411Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCCACTCTTGGAGAGCATCCT	0.507																																																1	Substitution - Missense(1)	kidney(1)											74	70	71					2																	224462769		2203	4300	6503	SO:0001583	missense	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1232C>A	2.37:g.224462769G>T	ENSP00000304133:p.Ser411Tyr		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849091	0.51270	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01821	4.62	5.86	5.86	0.93980	.	0.344763	0.28544	N	0.014976	T	0.03783	0.0107	L	0.60455	1.87	0.39392	D	0.966449	B	0.20459	0.045	B	0.27076	0.076	T	0.35748	-0.9776	10	0.72032	D	0.01	.	14.9736	0.71251	0.0:0.0:0.8574:0.1426	.	411	P13521	SCG2_HUMAN	Y	411;271	ENSP00000304133:S411Y	ENSP00000304133:S411Y	S	-	2	0	SCG2	224171013	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.779000	0.62375	2.781000	0.95711	0.650000	0.86243	TCC		0.507	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		T	224462769	G	T	224462769	3	4	558	1	0	0	0	0	1	0	0	0	13897	1174	41	4	625	4	SCG2	2	224462769	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	17420816	224462769	18736604	19	30186											
ANKMY1	51281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	241496637	241496637	+	5'UTR	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr2:241496637G>A	ENST00000391987.1	-	0	215				ANKMY1_ENST00000373318.2_Missense_Mutation_p.S39F|ANKMY1_ENST00000361678.4_Missense_Mutation_p.S39F|ANKMY1_ENST00000405523.3_Missense_Mutation_p.S39F|ANKMY1_ENST00000403283.1_Missense_Mutation_p.S118F|DUSP28_ENST00000343217.2_5'Flank|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.S39F|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Missense_Mutation_p.S39F|ANKMY1_ENST00000462004.1_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1								metal ion binding (GO:0046872)	p.S39F(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GTTCTTCAGGGACCCCGGCTC	0.677											OREG0015353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											45	53	50					2																	241496637		2203	4299	6502	SO:0001623	5_prime_UTR_variant	51281			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000391987.1:c.-152C>T	2.37:g.241496637G>A		2427	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000391987.1	37	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302465	0.23736	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000361678;ENST00000403283;ENST00000401804;ENST00000405523;ENST00000411765	T;T;T;T;T;T	0.56776	2.84;3.53;2.16;2.4;0.44;2.14	2.48	-2.51	0.06365	.	.	.	.	.	T	0.23410	0.0566	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.27791	0.119;0.119;0.189	B;B;B	0.23852	0.022;0.013;0.049	T	0.12656	-1.0539	9	0.49607	T	0.09	.	0.1302	0.00073	0.2761:0.1797:0.2797:0.2644	.	39;39;39	Q6GPI0;B5MBY4;Q9P2S6-2	.;.;.	F	39;39;39;118;39;39;39	ENSP00000362415:S39F;ENSP00000384555:S39F;ENSP00000355097:S39F;ENSP00000383968:S118F;ENSP00000385887:S39F;ENSP00000385635:S39F	ENSP00000355097:S39F	S	-	2	0	ANKMY1	241145310	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.873000	0.04214	-0.666000	0.05310	0.313000	0.20887	TCC		0.677	ANKMY1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017844		A	241496637	G	A	241496637	1	1	558	0	1	0	0	0	0	0	0	0	634	1174	41	2		2	ANKMY1	2	241496637	5'UTR	SNP	G	TCGA-CW-5580-01A-01D-1669-08	17033868	241496637	1702736	20	30187											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188245	10188245	+	Missense_Mutation	SNP	G	G	T	rs104893830		TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr3:10188245G>T	ENST00000256474.2	+	2	1228	c.388G>T	c.(388-390)Gtt>Ttt	p.V130F	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	130	Involved in binding to CCT complex.		V -> L (in ECYT2 and VHLD; type I). {ECO:0000269|PubMed:12393546, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V130L(9)|p.V130>F(1)|p.V130F(1)|p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGGGCTTCTGGTTAACCAAAC	0.463		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Substitution - Missense(10)|Deletion - Frameshift(1)|Complex - compound substitution(1)	kidney(12)	GRCh37	CM031394|CM961427	VHL	M	rs104893830						205	189	195					3																	10188245		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.388G>T	3.37:g.10188245G>T	ENSP00000256474:p.Val130Phe		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964999	0.74131	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99857	-7.22	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96551	0.9408	10	0.87932	D	0	-11.5971	16.3181	0.82935	0.0:0.0:1.0:0.0	.	130	P40337	VHL_HUMAN	F	130;48	ENSP00000256474:V130F	ENSP00000256474:V130F	V	+	1	0	VHL	10163245	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	7.274000	0.78538	2.530000	0.85305	0.563000	0.77884	GTT		0.463	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10188245	G	T	10188245	3	4	558	1	0	0	0	0	1	0	0	0	17167	1261	44	4	394	4	VHL	3	10188245	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08		10188245	187834185	21	30188											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47162024	47162024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr3:47162024G>A	ENST00000409792.3	-	3	4144	c.4102C>T	c.(4102-4104)Caa>Taa	p.Q1368*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1368					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.Q865*(1)|p.Q1368*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCAGGTGCTTGCACTGACCCC	0.368			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											69	71	70					3																	47162024		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4102C>T	3.37:g.47162024G>A	ENSP00000386759:p.Gln1368*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	40	7.979585	0.98594	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.32	5.32	0.75619	.	0.000000	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1936	0.93677	0.0:0.0:1.0:0.0	.	.	.	.	X	1368;1368;1368;1324	.	ENSP00000386759:Q1368X	Q	-	1	0	SETD2	47137028	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.263000	0.95617	2.770000	0.95276	0.563000	0.77884	CAA		0.368	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47162024	G	A	47162024	4	1	558	1	0	0	0	0	0	1	0	0	14137	1328	46	2	3668	2	SETD2	3	47162024	Nonsense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	36973779	47162024	150860406	22	30189											
BAP1	51533	broad.mit.edu	37	3	52443747	52443747	+	5'Flank	SNP	A	A	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr3:52443747A>G	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Missense_Mutation_p.L17P|BAP1_ENST00000296288.5_Missense_Mutation_p.L17P|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.L17P(1)|p.?(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TTCCACGAGCAGGGTGAAGAG	0.697																																																2	Substitution - Missense(1)|Unknown(1)	eye(1)|kidney(1)											32	39	36					3																	52443747		2203	4299	6502	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443747A>G	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.608218	0.87258	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.54279	0.58;0.58	4.5	4.5	0.54988	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77278	-0.2647	10	0.52906	T	0.07	-1.916	14.118	0.65167	1.0:0.0:0.0:0.0	.	17	Q92560	BAP1_HUMAN	P	17	ENSP00000417132:L17P;ENSP00000296288:L17P	ENSP00000296288:L17P	L	-	2	0	BAP1	52418787	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.781000	0.91805	1.809000	0.52856	0.533000	0.62120	CTG		0.697	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		G	52443747	A	G	52443747	1	3	558	0	1	0	0	0	0	0	0	0	1311	188	7	3		3	BAP1	3	52443747	5'Flank	SNP	A	TCGA-CW-5580-01A-01D-1669-08	5281723	52443747	145578683	23	30190											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52588748	52588748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr3:52588748delG	ENST00000296302.7	-	27	4602	c.4601delC	c.(4600-4602)ccafs	p.P1536fs	PBRM1_ENST00000409114.3_Intron|PBRM1_ENST00000409767.1_Intron|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.P1456fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.P1449fs|RNU6-856P_ENST00000516959.1_RNA|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Intron|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.P1481fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.P1429fs			Q86U86	PB1_HUMAN	polybromo 1	1536	Pro-rich.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACCCGGTGGTGGGATGCCCGG	0.567			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													40	39	39					3																	52588748		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4601delC	3.37:g.52588748delG	ENSP00000296302:p.Pro1536fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.567	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52588748	G	-	52588748	7	5	558	1	0	1	0	1	0	0	0	0	11493	1348	47	0	484	0	PBRM1	3	52588748	Frame_Shift_Del	DEL	G	TCGA-CW-5580-01A-01D-1669-08	145001	52588748	145433682	24	30191											
GATA2	2624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128204803	128204803	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr3:128204803T>A	ENST00000341105.2	-	3	969	c.638A>T	c.(637-639)tAc>tTc	p.Y213F	GATA2_ENST00000430265.2_Missense_Mutation_p.Y213F|GATA2_ENST00000487848.1_Missense_Mutation_p.Y213F	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	213					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Y213F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TGACACCTGGTACTTGACGCC	0.627			Mis		AML(CML blast transformation)																																		Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	1	Substitution - Missense(1)	kidney(1)											145	130	135					3																	128204803		2203	4300	6503	SO:0001583	missense	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.638A>T	3.37:g.128204803T>A	ENSP00000345681:p.Tyr213Phe		D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.969502	0.92855	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97209	-4.28;-4.29;-4.28	4.01	4.01	0.46588	.	0.404519	0.25622	N	0.029410	D	0.97785	0.9273	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.67145	0.996;0.996	D;P	0.73380	0.98;0.908	D	0.97472	1.0041	10	0.42905	T	0.14	-10.8058	12.743	0.57264	0.0:0.0:0.0:1.0	.	213;213	P23769-2;P23769	.;GATA2_HUMAN	F	213	ENSP00000345681:Y213F;ENSP00000400259:Y213F;ENSP00000417074:Y213F	ENSP00000345681:Y213F	Y	-	2	0	GATA2	129687493	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.664000	0.68045	1.676000	0.50930	0.397000	0.26171	TAC		0.627	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		A	128204803	T	A	128204803	3	1	558	1	0	0	0	0	1	0	0	0	6256	1638	57	5	820	5	GATA2	3	128204803	Missense_Mutation	SNP	T	TCGA-CW-5580-01A-01D-1669-08	75616055	128204803	69817627	25	30192											
PLXND1	23129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	129286540	129286540	+	Splice_Site	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr3:129286540C>T	ENST00000324093.4	-	21	4152		c.e21+1		PLXND1_ENST00000393239.1_Splice_Site	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.?(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCGCCCACTACCTTTGCGGAT	0.612																																					Ovarian(97;366 1484 3738 22084 39045)											1	Unknown(1)	kidney(1)											68	63	65					3																	129286540		2203	4300	6503	SO:0001630	splice_region_variant	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3973+1G>A	3.37:g.129286540C>T			A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Splice_Site	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741635	0.69304	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2562	0.66053	0.0:0.9263:0.0:0.0737	.	.	.	.	.	-1	.	.	.	-	.	.	PLXND1	130769230	1.000000	0.71417	0.997000	0.53966	0.685000	0.39939	3.403000	0.52615	2.490000	0.84030	0.655000	0.94253	.		0.612	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	Intron	T	129286540	C	T	129286540	5	4	558	1	0	0	0	0	0	0	1	0	12129	521	18	2	1867	2	PLXND1	3	129286540	Splice_Site	SNP	C	TCGA-CW-5580-01A-01D-1669-08	1081737	129286540	68735890	26	30193											
GPR149	344758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	154146980	154146980	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr3:154146980G>T	ENST00000389740.2	-	1	524	c.425C>A	c.(424-426)aCa>aAa	p.T142K		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	142					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T142K(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTGGAGGCTGTCTGGCTCCC	0.597																																																1	Substitution - Missense(1)	kidney(1)											31	34	33					3																	154146980		1997	4169	6166	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.425C>A	3.37:g.154146980G>T	ENSP00000374390:p.Thr142Lys			Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	0.265	-0.997034	0.02145	.	.	ENSG00000174948	ENST00000389740	T	0.26518	1.73	5.52	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.740368	0.13382	N	0.392028	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.18871	0.023	T	0.28004	-1.0057	10	0.25106	T	0.35	-0.7188	2.4962	0.04622	0.1819:0.2441:0.4605:0.1135	.	142	Q86SP6	GP149_HUMAN	K	142	ENSP00000374390:T142K	ENSP00000374390:T142K	T	-	2	0	GPR149	155629674	0.004000	0.15560	0.001000	0.08648	0.051000	0.14879	1.476000	0.35420	0.717000	0.32145	-0.777000	0.03380	ACA		0.597	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		T	154146980	G	T	154146980	3	4	558	1	0	0	0	0	1	0	0	0	6656	1377	48	4	1786	4	GPR149	3	154146980	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	24860440	154146980	43875450	27	30194											
SLC7A14	57709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170198277	170198277	+	Silent	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr3:170198277G>A	ENST00000231706.5	-	7	2109	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	598					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.I598I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAACCAGAAGGATGGCCCACC	0.537																																																1	Substitution - coding silent(1)	kidney(1)											81	77	78					3																	170198277		2203	4300	6503	SO:0001819	synonymous_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1794C>T	3.37:g.170198277G>A			B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	CCDS33892.1																																																																																				0.537	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		A	170198277	G	A	170198277	2	1	558	1	0	0	0	0	0	0	0	1	14702	1164	41	2		2	SLC7A14	3	170198277	Silent	SNP	G	TCGA-CW-5580-01A-01D-1669-08	16051297	170198277	27824153	28	30195											
CLCN2	1181	broad.mit.edu;ucsc.edu	37	3	184070571	184070571	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr3:184070571A>G	ENST00000265593.4	-	19	2342	c.2171T>C	c.(2170-2172)cTc>cCc	p.L724P	CLCN2_ENST00000457512.1_Missense_Mutation_p.L724P|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000434054.2_Missense_Mutation_p.L680P|CLCN2_ENST00000344937.7_Missense_Mutation_p.L707P	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	724					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.L724P(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GAGGCTCCGGAGGGCGATGCC	0.602																																																1	Substitution - Missense(1)	kidney(1)											30	30	30					3																	184070571		2202	4299	6501	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2171T>C	3.37:g.184070571A>G	ENSP00000265593:p.Leu724Pro		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	a	14.39	2.522614	0.44866	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.85773	-1.98;-1.93;-2.03;-1.98	5.4	5.4	0.78164	.	0.485814	0.22598	N	0.057983	D	0.87188	0.6115	M	0.62723	1.935	0.80722	D	1	P;P;P;P;P	0.40553	0.721;0.721;0.676;0.721;0.548	P;P;P;P;B	0.49421	0.486;0.486;0.61;0.486;0.406	D	0.85312	0.1079	10	0.31617	T	0.26	-28.0872	13.001	0.58676	1.0:0.0:0.0:0.0	.	680;724;707;724;680	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	P	724;707;680;724	ENSP00000265593:L724P;ENSP00000345056:L707P;ENSP00000400425:L680P;ENSP00000391928:L724P	ENSP00000265593:L724P	L	-	2	0	CLCN2	185553265	1.000000	0.71417	0.998000	0.56505	0.403000	0.30841	6.806000	0.75195	2.052000	0.61016	0.374000	0.22700	CTC		0.602	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			G	184070571	A	G	184070571	3	3	558	1	0	0	0	0	1	0	0	0	3465	304	11	3	549	3	CLCN2	3	184070571	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08	13872294	184070571	13951859	29	30196											
MUC4	4585	broad.mit.edu;hgsc.bcm.edu	37	3	195538680	195538680	+	Silent	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr3:195538680C>T	ENST00000346145.4	-	1	48	c.9G>A	c.(7-9)ggG>ggA	p.G3G	MUC4_ENST00000349607.4_Silent_p.G3G|MUC4_ENST00000478685.1_5'UTR|MUC4_ENST00000463781.3_Silent_p.G3G|MUC4_ENST00000475231.1_Silent_p.G3G	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	3					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.G3G(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCAGCGTGCCCCCTTCATGG	0.657																																																3	Substitution - coding silent(3)	kidney(3)											65	62	63					3																	195538680		2203	4300	6503	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.9G>A	3.37:g.195538680C>T			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	CCDS3310.1																																																																																				0.657	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		T	195538680	C	T	195538680	2	4	558	1	0	0	0	0	0	0	0	1	9980	610	22	2		2	MUC4	3	195538680	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	11468109	195538680	2483750	30	30197											
LRCH3	84859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	197557694	197557694	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr3:197557694A>G	ENST00000425562.2	+	7	941	c.941A>G	c.(940-942)aAt>aGt	p.N314S	LRCH3_ENST00000441090.2_Missense_Mutation_p.N188S|AC055764.1_ENST00000454526.1_RNA|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000438796.2_Missense_Mutation_p.N314S|LRCH3_ENST00000334859.4_Missense_Mutation_p.N314S|LRCH3_ENST00000414675.2_Missense_Mutation_p.N314S			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	314						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.N314S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCAGGCTTCAATAGTGTGGAC	0.393																																																1	Substitution - Missense(1)	kidney(1)											199	202	201					3																	197557694		2203	4300	6503	SO:0001583	missense	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.941A>G	3.37:g.197557694A>G	ENSP00000393579:p.Asn314Ser		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37		.	.	.	.	.	.	.	.	.	.	A	21.6	4.174298	0.78452	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.28895	2.11;1.59;2.16;2.34;2.13	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	N	0.24115	0.695	0.80722	D	1	D;D;D;B	0.76494	0.999;0.999;0.999;0.357	D;D;D;B	0.79784	0.96;0.993;0.982;0.237	T	0.13176	-1.0519	10	0.24483	T	0.36	-15.9044	14.4981	0.67702	1.0:0.0:0.0:0.0	.	188;314;314;314	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	S	314;188;314;314;314	ENSP00000399751:N314S;ENSP00000394609:N188S;ENSP00000394965:N314S;ENSP00000334375:N314S;ENSP00000393579:N314S	ENSP00000334375:N314S	N	+	2	0	LRCH3	199042091	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.727000	0.91480	1.905000	0.55150	0.374000	0.22700	AAT		0.393	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		G	197557694	A	G	197557694	3	3	558	1	0	0	0	0	1	0	0	0	8936	101	4	3	967	3	LRCH3	3	197557694	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08	2019014	197557694	464736	31	30198											
CNGA1	1259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	47944154	47944154	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr4:47944154T>A	ENST00000514170.1	-	9	780	c.461A>T	c.(460-462)gAa>gTa	p.E154V	CNGA1_ENST00000402813.3_Missense_Mutation_p.E223V|CNGA1_ENST00000420489.2_Missense_Mutation_p.E154V|CNGA1_ENST00000544810.1_Missense_Mutation_p.E154V|CNGA1_ENST00000358519.4_Missense_Mutation_p.E154V			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	154					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.E154V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AACCACAACTTCTTTCTTCTC	0.383																																																1	Substitution - Missense(1)	kidney(1)											101	95	97					4																	47944154		1836	4093	5929	SO:0001583	missense	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.461A>T	4.37:g.47944154T>A	ENSP00000426862:p.Glu154Val		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.466123	0.63625	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.78	5.78	0.91487	.	0.153488	0.56097	D	0.000023	T	0.50633	0.1627	M	0.79011	2.435	0.53005	D	0.999966	D;D	0.71674	0.998;0.981	P;P	0.56343	0.796;0.69	T	0.49485	-0.8935	10	0.30854	T	0.27	.	16.1084	0.81241	0.0:0.0:0.0:1.0	.	154;154	Q4W5E3;P29973	.;CNGA1_HUMAN	V	223;154;154;154;154	ENSP00000384264:E223V;ENSP00000426862:E154V;ENSP00000443401:E154V;ENSP00000351320:E154V;ENSP00000389881:E154V	ENSP00000351320:E154V	E	-	2	0	CNGA1	47638911	1.000000	0.71417	0.998000	0.56505	0.127000	0.20565	5.903000	0.69877	2.207000	0.71202	0.460000	0.39030	GAA		0.383	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		A	47944154	T	A	47944154	3	1	558	1	0	0	0	0	1	0	0	0	3598	1783	62	5	1623	5	CNGA1	4	47944154	Missense_Mutation	SNP	T	TCGA-CW-5580-01A-01D-1669-08		47944154	143210122	32	30199											
DMXL1	1657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	118560454	118560454	+	Silent	SNP	T	T	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr5:118560454T>C	ENST00000311085.8	+	37	8345	c.8265T>C	c.(8263-8265)acT>acC	p.T2755T	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Silent_p.T2776T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2755								p.T2755T(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTCATCCAACTCTTCCTTACT	0.249																																																1	Substitution - coding silent(1)	kidney(1)											59	63	62					5																	118560454		2176	4245	6421	SO:0001819	synonymous_variant	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8265T>C	5.37:g.118560454T>C				Silent	SNP	ENST00000311085.8	37	CCDS4125.1																																																																																				0.249	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		C	118560454	T	C	118560454	2	2	558	1	0	0	0	0	0	0	0	1	4596	1538	54	3		3	DMXL1	5	118560454	Silent	SNP	T	TCGA-CW-5580-01A-01D-1669-08		118560454	62354806	33	30200											
GRIA1	2890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	153149881	153149881	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr5:153149881A>T	ENST00000285900.5	+	13	2519	c.2176A>T	c.(2176-2178)Att>Ttt	p.I726F	GRIA1_ENST00000518142.1_Missense_Mutation_p.I646F|GRIA1_ENST00000518783.1_Missense_Mutation_p.I736F|GRIA1_ENST00000521843.2_Missense_Mutation_p.I657F|GRIA1_ENST00000340592.5_Missense_Mutation_p.I726F|GRIA1_ENST00000448073.4_Missense_Mutation_p.I736F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	726					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.I726F(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GAATGAGTACATTGAGCAGCG	0.512																																																2	Substitution - Missense(2)	kidney(2)											118	100	106					5																	153149881		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2176A>T	5.37:g.153149881A>T	ENSP00000285900:p.Ile726Phe		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268951	0.80469	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.38077	1.48;1.48;1.16;1.48;1.48;1.48;1.16	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	L	0.41573	1.285	0.80722	D	1	D;D;P;D;P	0.89917	1.0;1.0;0.9;1.0;0.917	D;D;P;D;P	0.87578	0.998;0.998;0.499;0.997;0.783	T	0.54316	-0.8312	10	0.87932	D	0	.	14.6134	0.68531	1.0:0.0:0.0:0.0	.	736;736;646;726;726	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	F	726;726;646;680;726;659;657;736;736	ENSP00000285900:I726F;ENSP00000427920:I646F;ENSP00000339343:I726F;ENSP00000427864:I659F;ENSP00000442108:I657F;ENSP00000428994:I736F;ENSP00000415569:I736F	ENSP00000285900:I726F	I	+	1	0	GRIA1	153130074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.125000	0.94402	2.042000	0.60477	0.533000	0.62120	ATT		0.512	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			T	153149881	A	T	153149881	3	4	558	1	0	0	0	0	1	0	0	0	6769	217	8	5	2226	5	GRIA1	5	153149881	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08	34589427	153149881	27765379	34	30201											
RARS	5917	broad.mit.edu	37	5	167927655	167927655	+	Silent	SNP	A	A	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr5:167927655A>T	ENST00000231572.3	+	8	936	c.882A>T	c.(880-882)gtA>gtT	p.V294V	RARS_ENST00000538719.1_Silent_p.V88V|RARS_ENST00000520421.1_3'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	294					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.V294V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ATCAGTGTGTAGTTCTGCTCC	0.388																																																1	Substitution - coding silent(1)	kidney(1)											75	81	79					5																	167927655		2203	4300	6503	SO:0001819	synonymous_variant	5917			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.882A>T	5.37:g.167927655A>T			B2RBS9|Q53GY4|Q9BWA1	Silent	SNP	ENST00000231572.3	37	CCDS4367.1																																																																																				0.388	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		T	167927655	A	T	167927655	2	4	558	1	0	0	0	0	0	0	0	1	13064	407	15	5		5	RARS	5	167927655	Silent	SNP	A	TCGA-CW-5580-01A-01D-1669-08	14777774	167927655	12987605	35	30202											
ZNF354B	117608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178293302	178293302	+	Silent	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr5:178293302C>T	ENST00000322434.3	+	3	317	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L31L(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGAGAAAGCTGGCTCCTTC	0.507																																																1	Substitution - coding silent(1)	kidney(1)											153	144	147					5																	178293302		2203	4300	6503	SO:0001819	synonymous_variant	117608			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.91C>T	5.37:g.178293302C>T			A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	CCDS4439.1																																																																																				0.507	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		T	178293302	C	T	178293302	2	4	558	1	0	0	0	0	0	0	0	1	17870	796	28	2		2	ZNF354B	5	178293302	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	10365647	178293302	2621958	36	30203											
SLC35B3	51000	broad.mit.edu;hgsc.bcm.edu	37	6	8422803	8422803	+	Silent	SNP	C	C	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr6:8422803C>G	ENST00000379660.4	-	5	923	c.474G>C	c.(472-474)ggG>ggC	p.G158G	SLC35B3_ENST00000339306.5_Silent_p.G158G	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	158					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G158G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TGTTTGATAACCCCATAGTAC	0.373																																					Melanoma(83;700 1353 9357 11478 30548)											1	Substitution - coding silent(1)	kidney(1)											118	112	114					6																	8422803		2203	4300	6503	SO:0001819	synonymous_variant	51000			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"Solute carriers"	21601	protein-coding gene	gene with protein product	"3' phosphoadenosine 5' phosphosulfate transporter 2"	610845	"chromosome 6 open reading frame 196", "solute carrier family 35, member B3"	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.474G>C	6.37:g.8422803C>G			A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Silent	SNP	ENST00000379660.4	37	CCDS4508.1																																																																																				0.373	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948		G	8422803	C	G	8422803	2	3	558	1	0	0	0	0	0	0	0	1	14583	494	18	4		4	SLC35B3	6	8422803	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08		8422803	162692264	37	30204											
CUL7	9820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43020004	43020004	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr6:43020004A>C	ENST00000265348.3	-	2	608	c.523T>G	c.(523-525)Tat>Gat	p.Y175D	CUL7_ENST00000535468.1_Missense_Mutation_p.Y227D			Q14999	CUL7_HUMAN	cullin 7	175					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.Y175D(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CGAATCTGATAATCAGGACTA	0.572																																																1	Substitution - Missense(1)	kidney(1)											70	64	66					6																	43020004		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.523T>G	6.37:g.43020004A>C	ENSP00000265348:p.Tyr175Asp		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.088524	0.55968	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.63417	0.04;-0.04	5.6	3.17	0.36434	Armadillo-like helical (1);	0.469770	0.23560	N	0.046864	T	0.26919	0.0659	N	0.08118	0	0.80722	D	1	B;D	0.56035	0.1;0.974	B;P	0.49752	0.026;0.621	T	0.37957	-0.9683	10	0.62326	D	0.03	-14.822	0.6426	0.00813	0.3552:0.1487:0.1191:0.3769	.	227;175	F5H0L1;Q14999	.;CUL7_HUMAN	D	175;227	ENSP00000265348:Y175D;ENSP00000438788:Y227D	ENSP00000265348:Y175D	Y	-	1	0	CUL7	43127982	0.808000	0.29022	0.993000	0.49108	0.996000	0.88848	1.092000	0.30927	0.902000	0.36520	0.459000	0.35465	TAT		0.572	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		C	43020004	A	C	43020004	3	2	558	1	0	0	0	0	1	0	0	0	4062	362	13	5	4769	5	CUL7	6	43020004	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08	34597201	43020004	128095063	38	30205											
GRIK2	2898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	102503283	102503283	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr6:102503283A>G	ENST00000421544.1	+	15	2880	c.2390A>G	c.(2389-2391)aAa>aGa	p.K797R	GRIK2_ENST00000369134.4_Missense_Mutation_p.K748R|GRIK2_ENST00000413795.1_Missense_Mutation_p.K797R|GRIK2_ENST00000318991.6_Missense_Mutation_p.K797R|GRIK2_ENST00000369137.3_Missense_Mutation_p.K721R|GRIK2_ENST00000369138.1_Missense_Mutation_p.K797R	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	797					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.K797R(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATGAAGGAGAAATGGTGGAGG	0.483																																																2	Substitution - Missense(2)	kidney(2)											99	101	100					6																	102503283		2203	4300	6503	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2390A>G	6.37:g.102503283A>G	ENSP00000397026:p.Lys797Arg		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195301	0.78902	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.68	5.68	0.88126	Ionotropic glutamate receptor (2);	0.046223	0.85682	N	0.000000	T	0.25901	0.0631	L	0.52126	1.63	0.51233	D	0.999916	D;D;D	0.62365	0.989;0.991;0.989	D;D;D	0.70016	0.944;0.967;0.944	T	0.00950	-1.1503	10	0.40728	T	0.16	.	15.9826	0.80125	1.0:0.0:0.0:0.0	.	797;797;797	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	R	797;797;797;721;797;748;572	ENSP00000397026:K797R;ENSP00000405596:K797R;ENSP00000358134:K797R;ENSP00000358133:K721R;ENSP00000313276:K797R;ENSP00000358130:K748R	ENSP00000313276:K797R	K	+	2	0	GRIK2	102609976	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.176000	0.68965	0.477000	0.44152	AAA		0.483	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			G	102503283	A	G	102503283	3	3	558	1	0	0	0	0	1	0	0	0	6776	14	1	3	2448	3	GRIK2	6	102503283	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08	59483279	102503283	68611784	39	30206											
EIF3B	8662	broad.mit.edu;ucsc.edu	37	7	2404084	2404084	+	Silent	SNP	A	A	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr7:2404084A>G	ENST00000360876.4	+	6	1133	c.1077A>G	c.(1075-1077)ctA>ctG	p.L359L	EIF3B_ENST00000397011.2_Silent_p.L359L	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B									p.L359L(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GCATTGCTCTATGGGGGGGAG	0.478																																																1	Substitution - coding silent(1)	kidney(1)											104	108	106					7																	2404084		2203	4300	6503	SO:0001819	synonymous_variant	8662			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1077A>G	7.37:g.2404084A>G				Silent	SNP	ENST00000360876.4	37	CCDS5332.1																																																																																				0.478	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			G	2404084	A	G	2404084	2	3	558	1	0	0	0	0	0	0	0	1	5015	436	16	3		3	EIF3B	7	2404084	Silent	SNP	A	TCGA-CW-5580-01A-01D-1669-08		2404084	156734579	40	30207											
ZNF107	51427	broad.mit.edu;hgsc.bcm.edu	37	7	64167976	64167976	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr7:64167976delA	ENST00000395391.1	+	4	2669	c.1294delA	c.(1294-1296)aaafs	p.K432fs	ZNF107_ENST00000423627.1_Frame_Shift_Del_p.K432fs|ZNF107_ENST00000344930.3_Frame_Shift_Del_p.K432fs			Q9UII5	ZN107_HUMAN	zinc finger protein 107	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAGACATAAGAAAATTCATAC	0.348																																																0													32	36	35					7																	64167976		2193	4296	6489	SO:0001589	frameshift_variant	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1294delA	7.37:g.64167976delA	ENSP00000378789:p.Lys432fs			Frame_Shift_Del	DEL	ENST00000395391.1	37	CCDS5527.1																																																																																				0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		-	64167976	A	-	64167976	7	5	558	1	0	1	0	1	0	0	0	0	17720	247	9	0	1300	0	ZNF107	7	64167976	Frame_Shift_Del	DEL	A	TCGA-CW-5580-01A-01D-1669-08	61763892	64167976	94970687	41	30208											
WBSCR17	64409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	71177037	71177038	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr7:71177037_71177038GC>AT	ENST00000333538.5	+	11	2337_2338	c.1703_1704GC>AT	c.(1702-1704)tGC>tAT	p.C568Y	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	568	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.C568C(1)|p.C568>?(1)|p.C568Y(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACGGGACGCTGCCTGGAGGTGG	0.569																																																3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	Exception_encountered	7.37:g.71177037_71177038delinsAT	ENSP00000329654:p.Cys568Tyr		Q8NFV9|Q9NTA8	Missense_Mutation|Silent	SNP	ENST00000333538.5	37	CCDS5540.1																																																																																				0.569	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		AT	71177038	GC	AT	71177037	3	1	558	1	0	0	0	0	1	0	0	0	17269	1319	46	2	1745	2	WBSCR17	7	71177037	Missense_Mutation	DNP	GC	TCGA-CW-5580-01A-01D-1669-08	7009061	71177037	87961626	42	30209											
NOS3	4846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150697631	150697631	+	Silent	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr7:150697631C>T	ENST00000484524.1	+	9	1177	c.1177C>T	c.(1177-1179)Ctg>Ttg	p.L393L	NOS3_ENST00000461406.1_Silent_p.L187L|NOS3_ENST00000467517.1_Silent_p.L393L|NOS3_ENST00000297494.3_Silent_p.L393L	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L393L(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCTCGTCCCTGTGGAAAGA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											121	90	100					7																	150697631		2203	4300	6503	SO:0001819	synonymous_variant	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1177C>T	7.37:g.150697631C>T			Q495E5	Silent	SNP	ENST00000484524.1	37	CCDS55182.1																																																																																				0.602	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		T	150697631	C	T	150697631	2	4	558	1	0	0	0	0	0	0	0	1	10546	680	24	2		2	NOS3	7	150697631	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	79520594	150697631	8441032	43	30210											
GALNTL5	168391	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151684336	151684336	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr7:151684336G>A	ENST00000392800.2	+	5	882	c.628G>A	c.(628-630)Gca>Aca	p.A210T	GALNTL5_ENST00000431418.2_Missense_Mutation_p.A210T	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	210	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.A210T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GCTGATTCGAGCAAGGCTGAT	0.453																																																1	Substitution - Missense(1)	kidney(1)											83	83	83					7																	151684336		2203	4300	6503	SO:0001583	missense	168391			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.628G>A	7.37:g.151684336G>A	ENSP00000376548:p.Ala210Thr		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	g	11.93	1.784998	0.31593	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.72282	-0.64;-0.64	4.3	-1.53	0.08611	Glycosyl transferase, family 2 (1);	1.232870	0.06158	N	0.675494	T	0.75547	0.3864	M	0.86651	2.83	0.09310	N	1	B	0.34181	0.44	B	0.38378	0.272	T	0.67421	-0.5675	10	0.87932	D	0	.	9.3641	0.38215	0.0:0.1225:0.3112:0.5663	.	210	Q7Z4T8	GLTL5_HUMAN	T	210	ENSP00000392582:A210T;ENSP00000376548:A210T	ENSP00000376548:A210T	A	+	1	0	GALNTL5	151315269	0.884000	0.30299	0.000000	0.03702	0.147000	0.21601	1.098000	0.31000	-0.438000	0.07232	0.556000	0.70494	GCA		0.453	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		A	151684336	G	A	151684336	3	1	558	1	0	0	0	0	1	0	0	0	6226	971	34	2	642	2	GALNTL5	7	151684336	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	986705	151684336	7454327	44	30211											
VPS37A	137492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	17125809	17125809	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr8:17125809T>G	ENST00000324849.4	+	3	917	c.243T>G	c.(241-243)agT>agG	p.S81R	VPS37A_ENST00000521829.1_Missense_Mutation_p.S56R|VPS37A_ENST00000324815.3_Missense_Mutation_p.S81R	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	81					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.S81R(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		CAGTGATCAGTGTTTATCCAC	0.348																																																1	Substitution - Missense(1)	kidney(1)											124	118	120					8																	17125809		2203	4300	6503	SO:0001583	missense	137492				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"hepatocellular carcinoma related protein 1"	609927	"vacuolar protein sorting 37A (yeast)", "polyglutamine binding protein 2"	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.243T>G	8.37:g.17125809T>G	ENSP00000318629:p.Ser81Arg		Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	37	CCDS6001.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656854	0.67586	.	.	ENSG00000155975	ENST00000324849;ENST00000324815;ENST00000518038;ENST00000521829	T;T	0.56776	0.44;0.45	4.8	1.12	0.20585	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	L	0.43923	1.385	0.51767	D	0.999937	D;D	0.76494	0.999;0.999	D;D	0.80764	0.967;0.994	T	0.52786	-0.8529	10	0.09843	T	0.71	-13.3548	8.9154	0.35579	0.0:0.2254:0.0:0.7746	.	56;81	Q8NEZ2-2;Q8NEZ2	.;VP37A_HUMAN	R	81;81;92;56	ENSP00000318629:S81R;ENSP00000429680:S56R	ENSP00000318173:S81R	S	+	3	2	VPS37A	17170180	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.878000	0.48515	0.364000	0.24374	0.533000	0.62120	AGT		0.348	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		G	17125809	T	G	17125809	3	3	558	1	0	0	0	0	1	0	0	0	17210	1693	59	5	253	5	VPS37A	8	17125809	Missense_Mutation	SNP	T	TCGA-CW-5580-01A-01D-1669-08		17125809	129238213	45	30212											
PTAR1	375743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	72338543	72338543	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr9:72338543G>A	ENST00000340434.4	-	6	649	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	PTAR1_ENST00000377200.5_Missense_Mutation_p.L137F	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	216					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)	p.L216F(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						TCATCAAGAAGAATCTTTTAA	0.358																																																2	Substitution - Missense(2)	kidney(2)											61	59	60					9																	72338543		1819	4088	5907	SO:0001583	missense	375743			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"Prenyltransferase alpha subunit repeat containing"	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.646C>T	9.37:g.72338543G>A	ENSP00000344299:p.Leu216Phe		Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	CCDS47978.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397880	0.42512	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	T;T	0.49720	0.77;0.77	5.69	5.69	0.88448	Protein prenyltransferase (1);	0.116735	0.64402	D	0.000010	T	0.44912	0.1316	L	0.53780	1.695	0.80722	D	1	B	0.28552	0.215	B	0.21917	0.037	T	0.33085	-0.9882	10	0.15952	T	0.53	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	216	Q7Z6K3	PTAR1_HUMAN	F	137;216	ENSP00000366405:L137F;ENSP00000344299:L216F	ENSP00000344299:L216F	L	-	1	0	PTAR1	71528363	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.303000	0.72794	2.840000	0.97914	0.655000	0.94253	CTT		0.358	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		A	72338543	G	A	72338543	3	1	558	1	0	0	0	0	1	0	0	0	12729	942	33	2	574	2	PTAR1	9	72338543	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08		72338543	68874888	46	30213											
GRIN3A	116443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104341505	104341505	+	Silent	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr9:104341505C>T	ENST00000361820.3	-	7	3504	c.2904G>A	c.(2902-2904)aaG>aaA	p.K968K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	968	PPP2CB binding site. {ECO:0000250}.				calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.K968K(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGTATTGCAGCTTGGATTTGT	0.483																																																1	Substitution - coding silent(1)	kidney(1)											234	182	199					9																	104341505		2203	4300	6503	SO:0001819	synonymous_variant	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2904G>A	9.37:g.104341505C>T			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																				0.483	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			T	104341505	C	T	104341505	2	4	558	1	0	0	0	0	0	0	0	1	6785	796	28	2		2	GRIN3A	9	104341505	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	32002962	104341505	36871926	47	30214											
CEP110	11064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123900914	123900914	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr9:123900914A>T	ENST00000373855.1	+	16	2554	c.2294A>T	c.(2293-2295)gAg>gTg	p.E765V	CNTRL_ENST00000373847.1_Missense_Mutation_p.E213V|CNTRL_ENST00000373850.1_Missense_Mutation_p.E213V|CNTRL_ENST00000238341.5_Missense_Mutation_p.E765V			Q7Z7A1	CNTRL_HUMAN	centriolin	765					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.E765V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAAGAAAAGGAGCAAGAGAAC	0.418																																																1	Substitution - Missense(1)	kidney(1)											101	103	103					9																	123900914		2203	4300	6503	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2294A>T	9.37:g.123900914A>T	ENSP00000362962:p.Glu765Val		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.668035	0.67814	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.76	5.76	0.90799	.	.	.	.	.	T	0.40398	0.1115	L	0.27053	0.805	0.29549	N	0.851486	P;P;P	0.43477	0.808;0.773;0.664	B;B;B	0.41894	0.261;0.369;0.203	T	0.37842	-0.9688	9	0.40728	T	0.16	.	15.544	0.76081	1.0:0.0:0.0:0.0	.	765;765;765	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	V	765;765;765;247;213;213	ENSP00000362962:E765V;ENSP00000238341:E765V;ENSP00000362956:E213V;ENSP00000362953:E213V	ENSP00000238341:E765V	E	+	2	0	CNTRL	122940735	1.000000	0.71417	0.786000	0.31890	0.969000	0.65631	6.898000	0.75676	2.324000	0.78689	0.533000	0.62120	GAG		0.418	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		T	123900914	A	T	123900914	3	4	558	1	0	0	0	0	1	0	0	0	3247	304	11	5	2348	5	CEP110	9	123900914	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08	19559409	123900914	17312517	48	30215											
A1CF	29974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	52566613	52566613	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr10:52566613G>A	ENST00000373993.1	-	11	1705	c.1661C>T	c.(1660-1662)cCc>cTc	p.P554L	A1CF_ENST00000374001.2_Missense_Mutation_p.P546L|A1CF_ENST00000373995.3_Missense_Mutation_p.P554L|A1CF_ENST00000395495.1_Missense_Mutation_p.P499L|A1CF_ENST00000282641.2_Missense_Mutation_p.P554L|A1CF_ENST00000373997.3_Missense_Mutation_p.P546L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395489.2_Missense_Mutation_p.P547L			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	554					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.P546L(1)|p.P554L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGCAGACACGGGTGCAGTTGC	0.473																																																2	Substitution - Missense(2)	kidney(2)											120	107	112					10																	52566613		2203	4300	6503	SO:0001583	missense	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1661C>T	10.37:g.52566613G>A	ENSP00000363105:p.Pro554Leu		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313437	0.81358	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.11604	2.86;2.86;2.86;2.85;2.86;2.76;2.86	5.74	5.74	0.90152	.	1.504880	0.03648	N	0.240566	T	0.11324	0.0276	N	0.14661	0.345	0.30147	N	0.803419	B;B;B;B	0.23249	0.034;0.008;0.003;0.082	B;B;B;B	0.25140	0.036;0.011;0.009;0.058	T	0.33854	-0.9852	10	0.21540	T	0.41	-2.3948	17.4268	0.87528	0.0:0.0:1.0:0.0	.	547;554;546;554	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	L	546;554;546;554;554;499;529;547	ENSP00000363113:P546L;ENSP00000363105:P554L;ENSP00000363109:P546L;ENSP00000363107:P554L;ENSP00000282641:P554L;ENSP00000378873:P499L;ENSP00000378868:P547L	ENSP00000282641:P554L	P	-	2	0	A1CF	52236619	1.000000	0.71417	0.184000	0.23157	0.749000	0.42624	9.018000	0.93657	2.714000	0.92807	0.650000	0.86243	CCC		0.473	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		A	52566613	G	A	52566613	3	1	558	1	0	0	0	0	1	0	0	0	2	1232	43	2	127	2	A1CF	10	52566613	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08		52566613	82968134	49	30216											
ECHS1	1892	broad.mit.edu;hgsc.bcm.edu	37	10	135184121	135184121	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr10:135184121C>T	ENST00000368547.3	-	2	584	c.229G>A	c.(229-231)Gag>Aag	p.E77K	MIR3944_ENST00000581277.1_RNA	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	77					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)	p.E77K(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GGGTCCTCCTCGAAGGTCTTC	0.617																																					GBM(132;1720 1771 5373 10277 21402)											1	Substitution - Missense(1)	kidney(1)											63	53	57					10																	135184121		2200	4299	6499	SO:0001583	missense	1892				CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.229G>A	10.37:g.135184121C>T	ENSP00000357535:p.Glu77Lys		O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729409	0.48833	.	.	ENSG00000127884	ENST00000368547	T	0.68903	-0.36	5.76	1.45	0.22620	Crotonase, core (1);	0.189811	0.53938	D	0.000046	T	0.66665	0.2812	M	0.67397	2.05	0.36065	D	0.841749	P	0.39216	0.664	B	0.38500	0.275	T	0.77696	-0.2491	10	0.87932	D	0	.	18.0901	0.89472	0.0:0.5351:0.4649:0.0	.	77	P30084	ECHM_HUMAN	K	77	ENSP00000357535:E77K	ENSP00000357535:E77K	E	-	1	0	ECHS1	135034111	0.999000	0.42202	0.007000	0.13788	0.001000	0.01503	3.537000	0.53590	0.357000	0.24183	-0.780000	0.03373	GAG		0.617	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			T	135184121	C	T	135184121	3	4	558	1	0	0	0	0	1	0	0	0	4898	893	31	1	671	1	ECHS1	10	135184121	Missense_Mutation	SNP	C	TCGA-CW-5580-01A-01D-1669-08	82617508	135184121	350626	50	30217											
MUC5B	727897	hgsc.bcm.edu	37	11	1271392	1271392	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr11:1271392G>A	ENST00000529681.1	+	31	13340	c.13282G>A	c.(13282-13284)Gcc>Acc	p.A4428T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A4431T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4428	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACAACAGCCACTACGAC	0.657																																																0													123	146	138					11																	1271392		2071	4199	6270	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13282G>A	11.37:g.1271392G>A	ENSP00000436812:p.Ala4428Thr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	6.270	0.417995	0.11870	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.17054	2.3;2.49	2.21	-0.115	0.13560	.	.	.	.	.	T	0.15262	0.0368	L	0.57536	1.79	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.31806	-0.9930	9	0.87932	D	0	.	3.933	0.09293	0.1795:0.2529:0.5676:0.0	.	4901;4431	A7Y9J9;E9PBJ0	.;.	T	4428;4431;4372;4278;207	ENSP00000436812:A4428T;ENSP00000415793:A4431T	ENSP00000343037:A4372T	A	+	1	0	MUC5B	1227968	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.769000	0.01792	0.033000	0.15463	0.186000	0.17326	GCC		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1271392	G	A	1271392	3	1	558	1	0	0	0	0	1	0	0	0	9981	971	34	2	13413	2	MUC5B	11	1271392	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08		1271392	133735124	51	30218											
EHD1	10938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64645859	64645859	+	Silent	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr11:64645859C>T	ENST00000320631.3	-	1	332	c.78G>A	c.(76-78)cgG>cgA	p.R26R	EHD1_ENST00000359393.2_Silent_p.R26R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	26					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)	p.R26R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGTACAGCTGCCGCAGCCCCT	0.647																																																1	Substitution - coding silent(1)	kidney(1)											50	47	48					11																	64645859		2201	4296	6497	SO:0001819	synonymous_variant	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.78G>A	11.37:g.64645859C>T			O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	CCDS8084.1																																																																																				0.647	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		T	64645859	C	T	64645859	2	4	558	1	0	0	0	0	0	0	0	1	4979	726	26	2		2	EHD1	11	64645859	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	63374467	64645859	70360657	52	30219											
PDZD3	79849	broad.mit.edu;hgsc.bcm.edu	37	11	119059909	119059909	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr11:119059909G>C	ENST00000531114.1	+	8	2230	c.1681G>C	c.(1681-1683)Gca>Cca	p.A561P	PDZD3_ENST00000525131.1_Missense_Mutation_p.A482P|PDZD3_ENST00000392817.2_Missense_Mutation_p.A561P|PDZD3_ENST00000322712.4_Missense_Mutation_p.A481P|PDZD3_ENST00000355547.5_Missense_Mutation_p.A495P			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	561					cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)	p.A481P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CCCTGGGGCTGCAGAGGTGAG	0.612																																																1	Substitution - Missense(1)	kidney(1)											13	15	14					11																	119059909		2199	4294	6493	SO:0001583	missense	79849			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1681G>C	11.37:g.119059909G>C	ENSP00000431164:p.Ala561Pro		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37		.	.	.	.	.	.	.	.	.	.	G	12.16	1.854917	0.32791	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.73152	1.61;1.48;1.61;-0.72;1.48	5.15	2.18	0.27775	.	2.040040	0.02514	N	0.091815	T	0.55337	0.1914	N	0.14661	0.345	0.09310	N	1	P;P;P;B	0.35745	0.518;0.518;0.51;0.165	B;B;B;B	0.34931	0.133;0.133;0.192;0.094	T	0.51725	-0.8669	10	0.51188	T	0.08	1.696	5.9452	0.19215	0.1703:0.2928:0.5369:0.0	.	482;561;495;481	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	P	482;561;495;481;495;561	ENSP00000434559:A482P;ENSP00000431164:A561P;ENSP00000347742:A495P;ENSP00000327107:A481P;ENSP00000376564:A561P	ENSP00000327107:A481P	A	+	1	0	PDZD3	118565119	0.000000	0.05858	0.003000	0.11579	0.242000	0.25591	0.159000	0.16442	0.546000	0.28920	0.561000	0.74099	GCA		0.612	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		C	119059909	G	C	119059909	3	2	558	1	0	0	0	0	1	0	0	0	11704	1319	46	4	1521	4	PDZD3	11	119059909	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	54414050	119059909	15946607	53	30220											
PPFIBP1	8496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	27824429	27824429	+	Silent	SNP	T	T	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr12:27824429T>C	ENST00000318304.8	+	14	1546	c.1263T>C	c.(1261-1263)acT>acC	p.T421T	PPFIBP1_ENST00000228425.6_Silent_p.T404T|PPFIBP1_ENST00000542629.1_Silent_p.T390T|PPFIBP1_ENST00000537927.1_Silent_p.T268T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	421					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.T421T(1)|p.T404T(1)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCATGGAAACTTCTGAAAAAT	0.323																																																2	Substitution - coding silent(2)	kidney(2)											81	80	80					12																	27824429		2203	4299	6502	SO:0001819	synonymous_variant	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1263T>C	12.37:g.27824429T>C			O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	CCDS55812.1																																																																																				0.323	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		C	27824429	T	C	27824429	2	2	558	1	0	0	0	0	0	0	0	1	12315	1596	56	3		3	PPFIBP1	12	27824429	Silent	SNP	T	TCGA-CW-5580-01A-01D-1669-08		27824429	106027466	54	30221											
DENND5B	160518	hgsc.bcm.edu;ucsc.edu	37	12	31540603	31540603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr12:31540603delA	ENST00000389082.5	-	21	4023	c.3759delT	c.(3757-3759)attfs	p.I1253fs	DENND5B_ENST00000536562.1_Frame_Shift_Del_p.I1288fs|DENND5B_ENST00000306833.6_Frame_Shift_Del_p.I1288fs	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1253	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGGTCTGCAGAATTCGGATAA	0.483																																																0													108	101	103					12																	31540603		1982	4150	6132	SO:0001589	frameshift_variant	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3759delT	12.37:g.31540603delA	ENSP00000373734:p.Ile1253fs		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Frame_Shift_Del	DEL	ENST00000389082.5	37	CCDS44857.1																																																																																				0.483	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		-	31540603	A	-	31540603	7	5	558	1	0	1	0	1	0	0	0	0	4439	242	9	0	69	0	DENND5B	12	31540603	Frame_Shift_Del	DEL	A	TCGA-CW-5580-01A-01D-1669-08	3716174	31540603	102311292	55	30222											
CCDC53	51019	hgsc.bcm.edu;ucsc.edu	37	12	102433684	102433684	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr12:102433684delC	ENST00000240079.6	-	5	558	c.397delG	c.(397-399)gatfs	p.D133fs	CCDC53_ENST00000545679.1_Frame_Shift_Del_p.D132fs|CCDC53_ENST00000539515.1_5'UTR	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	133						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TATCTTGGATCCTTGGCTACA	0.398																																																0													231	217	222					12																	102433684		1869	4120	5989	SO:0001589	frameshift_variant	51019			AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.397delG	12.37:g.102433684delC	ENSP00000240079:p.Asp133fs		B2RC74|Q53FF0|Q6IAI4|Q96QK0	Frame_Shift_Del	DEL	ENST00000240079.6	37	CCDS44959.1																																																																																				0.398	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398685.1	NM_016053		-	102433684	C	-	102433684	7	5	558	1	0	1	0	1	0	0	0	0	2825	855	30	0	130	0	CCDC53	12	102433684	Frame_Shift_Del	DEL	C	TCGA-CW-5580-01A-01D-1669-08	70893081	102433684	31418211	56	30223											
STAB2	55576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104071251	104071251	+	Silent	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr12:104071251C>T	ENST00000388887.2	+	25	2871	c.2667C>T	c.(2665-2667)ggC>ggT	p.G889G		NM_017564.9	NP_060034.9			stabilin 2									p.G889G(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCAAAACTGGCACGGGCACCC	0.537																																																1	Substitution - coding silent(1)	kidney(1)											86	90	88					12																	104071251		2203	4300	6503	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2667C>T	12.37:g.104071251C>T				Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.537	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			T	104071251	C	T	104071251	2	4	558	1	0	0	0	0	0	0	0	1	15243	697	25	2		2	STAB2	12	104071251	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	1637567	104071251	29780644	57	30224											
DHX37	57647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	125438720	125438720	+	Missense_Mutation	SNP	T	T	C	rs199731932		TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr12:125438720T>C	ENST00000308736.2	-	19	2589	c.2491A>G	c.(2491-2493)Agc>Ggc	p.S831G	DHX37_ENST00000544745.1_Missense_Mutation_p.S618G	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	831							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.S831G(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCCCGCTTGCTCTTCAGCCTG	0.662													T|||	1	0.000199681	0.0	0.0	5008	,	,		16419	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											32	36	35					12																	125438720		2203	4300	6503	SO:0001583	missense	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2491A>G	12.37:g.125438720T>C	ENSP00000311135:p.Ser831Gly		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	5.089	0.202025	0.09652	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.02737	4.18;4.18	5.33	1.31	0.21738	Helicase-associated domain (2);	0.527560	0.22692	N	0.056809	T	0.00967	0.0032	N	0.00666	-1.275	0.19945	N	0.999947	B	0.02656	0.0	B	0.04013	0.001	T	0.49031	-0.8981	10	0.18276	T	0.48	-25.4861	9.4325	0.38620	0.0:0.7106:0.0:0.2894	.	831	Q8IY37	DHX37_HUMAN	G	831;618	ENSP00000311135:S831G;ENSP00000439009:S618G	ENSP00000311135:S831G	S	-	1	0	DHX37	124004673	0.432000	0.25554	0.048000	0.18961	0.735000	0.41995	0.757000	0.26433	0.000000	0.14550	-0.640000	0.03970	AGC		0.662	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		C	125438720	T	C	125438720	3	2	558	1	0	0	0	0	1	0	0	0	4512	1551	54	3	1018	3	DHX37	12	125438720	Missense_Mutation	SNP	T	TCGA-CW-5580-01A-01D-1669-08	21367469	125438720	8413175	58	30225											
NOC4L	79050	broad.mit.edu;ucsc.edu	37	12	132636049	132636049	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr12:132636049T>C	ENST00000330579.1	+	12	1135	c.1094T>C	c.(1093-1095)gTg>gCg	p.V365A	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	365					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V365A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GCCTACCTGGTGGCCGCCTTC	0.716																																																1	Substitution - Missense(1)	kidney(1)											14	17	16					12																	132636049		2179	4277	6456	SO:0001583	missense	79050				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1094T>C	12.37:g.132636049T>C	ENSP00000328854:p.Val365Ala		Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.062131	0.55432	.	.	ENSG00000184967	ENST00000330579	T	0.64803	-0.12	5.18	5.18	0.71444	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.38175	1.15	0.80722	D	1	P	0.44260	0.83	B	0.37888	0.26	T	0.51466	-0.8702	10	0.31617	T	0.26	-32.6755	14.6937	0.69103	0.0:0.0:0.0:1.0	.	365	Q9BVI4	NOC4L_HUMAN	A	365	ENSP00000328854:V365A	ENSP00000328854:V365A	V	+	2	0	NOC4L	131202002	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.483000	0.60264	1.951000	0.56629	0.459000	0.35465	GTG		0.716	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		C	132636049	T	C	132636049	3	2	558	1	0	0	0	0	1	0	0	0	10517	1696	59	3	1140	3	NOC4L	12	132636049	Missense_Mutation	SNP	T	TCGA-CW-5580-01A-01D-1669-08	7197329	132636049	1215846	59	30226											
NUPL1	9818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25899186	25899186	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr13:25899186T>G	ENST00000381736.3	+	10	1261	c.1011T>G	c.(1009-1011)caT>caG	p.H337Q	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.H325Q|NUPL1_ENST00000463407.1_Missense_Mutation_p.H337Q	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	337	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)	p.H337Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GACTTCAACATGAATATGCAG	0.328																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)											1	Substitution - Missense(1)	kidney(1)											75	77	77					13																	25899186		2203	4300	6503	SO:0001583	missense	9818			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1011T>G	13.37:g.25899186T>G	ENSP00000371155:p.His337Gln		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505062	0.85282	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.48522	1.4;1.42;1.42;1.41;0.81	5.42	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	M	0.69823	2.125	0.80722	D	1	P;D;D	0.60160	0.82;0.973;0.987	B;P;P	0.59889	0.446;0.668;0.865	T	0.61936	-0.6960	10	0.46703	T	0.11	-12.0255	10.7179	0.46023	0.0:0.0758:0.0:0.9242	.	325;337;337	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	Q	337;325;314;337;325;337;284	ENSP00000371155:H337Q;ENSP00000418555:H337Q;ENSP00000371137:H325Q;ENSP00000371166:H337Q;ENSP00000408147:H284Q	ENSP00000318459:H314Q	H	+	3	2	NUPL1	24797186	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.803000	0.47924	2.179000	0.69175	0.482000	0.46254	CAT		0.328	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			G	25899186	T	G	25899186	3	3	558	1	0	0	0	0	1	0	0	0	10776	1461	51	5	1049	5	NUPL1	13	25899186	Missense_Mutation	SNP	T	TCGA-CW-5580-01A-01D-1669-08		25899186	89270692	60	30227											
ERCC5	2073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	103528030	103528030	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr13:103528030T>C	ENST00000355739.4	+	15	4761	c.3338T>C	c.(3337-3339)gTa>gCa	p.V1113A	ERCC5_ENST00000375954.1_Missense_Mutation_p.V346A|ERCC5_ENST00000472247.1_3'UTR	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	1113					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.V1113A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTAATGAATGTACAAAGGAGA	0.468			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	1	Substitution - Missense(1)	kidney(1)											46	47	47					13																	103528030		2203	4300	6503	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.3338T>C	13.37:g.103528030T>C	ENSP00000347978:p.Val1113Ala		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	T	5.826	0.336718	0.11013	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.06768	3.56;3.26	4.76	-2.3	0.06785	.	2.080600	0.01879	N	0.037730	T	0.06554	0.0168	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38200	-0.9672	10	0.07482	T	0.82	1.398	7.9319	0.29907	0.0:0.4729:0.1609:0.3661	.	1113	P28715	ERCC5_HUMAN	A	1538;1113;945;346	ENSP00000347978:V1113A;ENSP00000365121:V346A	ENSP00000347978:V1113A	V	+	2	0	ERCC5	102326031	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.766000	0.04725	-0.361000	0.08125	-0.256000	0.11100	GTA		0.468	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			C	103528030	T	C	103528030	3	2	558	1	0	0	0	0	1	0	0	0	5218	1638	57	3	3396	3	ERCC5	13	103528030	Missense_Mutation	SNP	T	TCGA-CW-5580-01A-01D-1669-08	77628844	103528030	11641848	61	30228											
ACIN1	22985	broad.mit.edu	37	14	23549554	23549554	+	Silent	SNP	G	G	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr14:23549554G>T	ENST00000262710.1	-	6	1491	c.1164C>A	c.(1162-1164)tcC>tcA	p.S388S	ACIN1_ENST00000555053.1_Silent_p.S388S|ACIN1_ENST00000605057.1_Silent_p.S330S|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Silent_p.S348S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	388	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S388S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTCGAGGAGGGGAAGGAGACT	0.473																																																1	Substitution - coding silent(1)	kidney(1)											68	68	68					14																	23549554		2203	4300	6503	SO:0001819	synonymous_variant	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1164C>A	14.37:g.23549554G>T			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	CCDS9587.1																																																																																				0.473	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		T	23549554	G	T	23549554	2	4	558	1	0	0	0	0	0	0	0	1	142	1219	43	4		4	ACIN1	14	23549554	Silent	SNP	G	TCGA-CW-5580-01A-01D-1669-08		23549554	83799986	62	30229											
C14orf135	64430	broad.mit.edu;ucsc.edu	37	14	60600702	60600703	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr14:60600702_60600703delGA	ENST00000406854.1	+	11	3836_3837	c.3282_3283delGA	c.(3280-3285)gggagafs	p.R1095fs	PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Frame_Shift_Del_p.R1095fs|PCNXL4_ENST00000317623.4_Frame_Shift_Del_p.R861fs|PCNXL4_ENST00000535349.1_3'UTR			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1095						integral component of membrane (GO:0016021)											TTTACACTGGGAGAGTGCTTAG	0.356																																																0																																										SO:0001589	frameshift_variant	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.3282_3283delGA	14.37:g.60600704_60600705delGA	ENSP00000384801:p.Arg1095fs		A8MXM2|Q9BQG8|Q9H9F2	Frame_Shift_Del	DEL	ENST00000406854.1	37																																																																																					0.356	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		-	60600703	GA	-	60600702	7	5	558	1	0	1	0	1	0	0	0	0	1747	1161	41	0	2614	0	C14orf135	14	60600702	Frame_Shift_Del	DEL	GA	TCGA-CW-5580-01A-01D-1669-08	37051148	60600702	46748838	63	30230											
SPTB	6710	broad.mit.edu	37	14	65241143	65241143	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr14:65241143C>T	ENST00000389721.5	-	23	4977	c.4945G>A	c.(4945-4947)Ggc>Agc	p.G1649S	SPTB_ENST00000542895.1_Missense_Mutation_p.G1649S|SPTB_ENST00000556626.1_Missense_Mutation_p.G1649S|SPTB_ENST00000389722.3_Missense_Mutation_p.G1649S|SPTB_ENST00000389720.3_Missense_Mutation_p.G1649S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1649					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.G1649S(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GACAGCAGGCCCTGGGCCCGG	0.667																																																1	Substitution - Missense(1)	kidney(1)											10	12	11					14																	65241143		2178	4275	6453	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4945G>A	14.37:g.65241143C>T	ENSP00000374371:p.Gly1649Ser		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	9.297	1.052116	0.19827	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.39	-6.0	0.02206	.	0.625698	0.17626	N	0.167542	T	0.11495	0.0280	N	0.01656	-0.775	0.24470	N	0.994392	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12156	0.007;0.001;0.001	T	0.30679	-0.9970	10	0.09084	T	0.74	.	3.187	0.06604	0.1055:0.3364:0.1073:0.4507	.	433;1649;1653	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	S	1653;1649;433;314;1649;1649;1649;1649	ENSP00000374372:G1649S;ENSP00000451324:G314S;ENSP00000451752:G1649S;ENSP00000374371:G1649S;ENSP00000443882:G1649S;ENSP00000374370:G1649S	ENSP00000334218:G433S	G	-	1	0	SPTB	64310896	0.000000	0.05858	0.953000	0.39169	0.431000	0.31685	-0.424000	0.07025	-0.978000	0.03533	0.542000	0.68232	GGC		0.667	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			T	65241143	C	T	65241143	3	4	558	1	0	0	0	0	1	0	0	0	15123	623	22	2	2162	2	SPTB	14	65241143	Missense_Mutation	SNP	C	TCGA-CW-5580-01A-01D-1669-08	4640441	65241143	42108397	64	30231											
RDH11	51109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68151823	68151823	+	Missense_Mutation	SNP	A	A	G	rs182091562		TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr14:68151823A>G	ENST00000381346.4	-	6	873	c.763T>C	c.(763-765)Ttt>Ctt	p.F255L	RP11-1012A1.4_ENST00000554493.1_5'UTR|RDH11_ENST00000553384.1_Missense_Mutation_p.F242L|RDH11_ENST00000428130.2_Missense_Mutation_p.F185L|RP11-1012A1.4_ENST00000553306.1_Silent_p.P85P	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	255					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.F255L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	TTGATGAAAAAGGAGAAAAGC	0.488																																																1	Substitution - Missense(1)	kidney(1)											101	88	92					14																	68151823		2203	4300	6503	SO:0001583	missense	51109			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	17964	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 1", "androgen-regulated short-chain dehydrogenase/reductase 1"	607849	"retinol dehydrogenase 11 (all-trans and 9-cis)"			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.763T>C	14.37:g.68151823A>G	ENSP00000370750:p.Phe255Leu		A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	37	CCDS32104.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	8.875	0.950152	0.18431	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035;ENST00000557273	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.08	5.07	-0.318	0.12728	NAD(P)-binding domain (1);	1.101550	0.07016	N	0.826018	T	0.72771	0.3502	N	0.05050	-0.12	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.001	B;B;B	0.10450	0.002;0.005;0.001	T	0.58070	-0.7701	10	0.11485	T	0.65	.	5.4924	0.16783	0.5799:0.2733:0.1467:0.0	.	185;242;255	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	L	255;242;185;141;168	ENSP00000370750:F255L;ENSP00000452079:F242L;ENSP00000416395:F185L;ENSP00000450802:F141L;ENSP00000450651:F168L	ENSP00000370750:F255L	F	-	1	0	RDH11	67221576	0.122000	0.22280	0.240000	0.24138	0.956000	0.61745	0.818000	0.27295	-0.207000	0.10187	0.482000	0.46254	TTT		0.488	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			G	68151823	A	G	68151823	3	3	558	1	0	0	0	0	1	0	0	0	13196	72	3	3	201	3	RDH11	14	68151823	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08	2910680	68151823	39197717	65	30232											
YLPM1	56252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75248501	75248501	+	Silent	SNP	A	A	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr14:75248501A>T	ENST00000552421.1	+	4	1879	c.1755A>T	c.(1753-1755)gcA>gcT	p.A585A	YLPM1_ENST00000325680.7_Silent_p.A585A|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.A585A(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCTCTTCTGCAGGGCCACCAC	0.597																																																1	Substitution - coding silent(1)	kidney(1)											136	141	139					14																	75248501		2019	4158	6177	SO:0001819	synonymous_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1755A>T	14.37:g.75248501A>T			P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37																																																																																					0.597	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		T	75248501	A	T	75248501	2	4	558	1	0	0	0	0	0	0	0	1	17491	175	7	5		5	YLPM1	14	75248501	Silent	SNP	A	TCGA-CW-5580-01A-01D-1669-08	7096678	75248501	32101039	66	30233											
TRIP11	9321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	92499570	92499570	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr14:92499570T>G	ENST00000267622.4	-	2	540	c.167A>C	c.(166-168)gAa>gCa	p.E56A	TRIP11_ENST00000555105.1_5'UTR	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	56					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.E56A(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GGCTTCAATTTCCTTTGTCCT	0.284			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	1	Substitution - Missense(1)	kidney(1)											61	65	64					14																	92499570		2203	4289	6492	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.167A>C	14.37:g.92499570T>G	ENSP00000267622:p.Glu56Ala		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308914	0.81247	.	.	ENSG00000100815	ENST00000267622	T	0.66815	-0.23	5.85	4.71	0.59529	.	0.309211	0.32328	N	0.006245	T	0.76162	0.3949	M	0.65498	2.005	0.42008	D	0.990925	D	0.58268	0.982	P	0.59487	0.858	T	0.78038	-0.2360	10	0.66056	D	0.02	.	11.7861	0.52043	0.0:0.0683:0.0:0.9317	.	56	Q15643	TRIPB_HUMAN	A	56	ENSP00000267622:E56A	ENSP00000267622:E56A	E	-	2	0	TRIP11	91569323	1.000000	0.71417	0.959000	0.39883	0.981000	0.71138	5.858000	0.69532	1.049000	0.40321	0.533000	0.62120	GAA		0.284	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			G	92499570	T	G	92499570	3	3	558	1	0	0	0	0	1	0	0	0	16560	1783	62	5	5852	5	TRIP11	14	92499570	Missense_Mutation	SNP	T	TCGA-CW-5580-01A-01D-1669-08	17251069	92499570	14849970	67	30234											
ATP10A	57194	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	25959134	25959134	+	Nonsense_Mutation	SNP	C	C	T	rs372456477		TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr15:25959134C>T	ENST00000356865.6	-	10	2142	c.2031G>A	c.(2029-2031)tgG>tgA	p.W677*		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	677					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.W677*(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTCCGAGGCCCAGTTGTCCG	0.682																																																1	Substitution - Nonsense(1)	kidney(1)						C	stop/TRP	0,4406		0,0,2203	25	27	27		2031	1.8	0.1	15		27	1,8597		0,1,4298	no	stop-gained	ATP10A	NM_024490.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		677/1500	25959134	1,13003	2203	4299	6502	SO:0001587	stop_gained	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2031G>A	15.37:g.25959134C>T	ENSP00000349325:p.Trp677*		Q4G0S9|Q969I4	Nonsense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281090	0.80692	0.0	1.16E-4	ENSG00000206190	ENST00000356865	.	.	.	3.77	1.82	0.25136	.	0.932679	0.09297	N	0.821422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.2291	8.7695	0.34724	0.0:0.7634:0.1514:0.0852	.	.	.	.	X	677	.	ENSP00000349325:W677X	W	-	3	0	ATP10A	23510227	0.000000	0.05858	0.091000	0.20842	0.003000	0.03518	0.425000	0.21346	0.373000	0.24621	-0.258000	0.10820	TGG		0.682	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		T	25959134	C	T	25959134	4	4	558	1	0	0	0	0	0	1	0	0	1116	624	22	2	2516	2	ATP10A	15	25959134	Nonsense_Mutation	SNP	C	TCGA-CW-5580-01A-01D-1669-08		25959134	76572258	68	30235											
LCMT2	9836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43621597	43621597	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr15:43621597A>G	ENST00000305641.5	-	1	1206	c.1091T>C	c.(1090-1092)tTc>tCc	p.F364S	ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000422466.2_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	364					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.F364S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TGGGCTCAAGAAGACAGAGGC	0.562																																																1	Substitution - Missense(1)	kidney(1)											47	46	46					15																	43621597		2201	4299	6500	SO:0001583	missense	9836			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1091T>C	15.37:g.43621597A>G	ENSP00000307214:p.Phe364Ser		Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	A	4.396	0.073218	0.08485	.	.	ENSG00000168806	ENST00000305641	T	0.72282	-0.64	5.54	4.41	0.53225	.	0.575927	0.16314	N	0.219841	T	0.39306	0.1073	N	0.01874	-0.695	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.10377	T	0.69	-20.4168	7.9913	0.30242	0.9101:0.0:0.0899:0.0	.	364	O60294	LCMT2_HUMAN	S	364	ENSP00000307214:F364S	ENSP00000307214:F364S	F	-	2	0	LCMT2	41408889	0.501000	0.26099	0.765000	0.31456	0.182000	0.23217	2.148000	0.42235	1.112000	0.41740	0.533000	0.62120	TTC		0.562	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		G	43621597	A	G	43621597	3	3	558	1	0	0	0	0	1	0	0	0	8681	246	9	3	973	3	LCMT2	15	43621597	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08	17662463	43621597	58909795	69	30236											
SECISBP2L	9728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49293222	49293222	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr15:49293222G>T	ENST00000559471.1	-	15	2363	c.2100C>A	c.(2098-2100)ttC>ttA	p.F700L	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.F655L|SECISBP2L_ENST00000559122.1_5'UTR	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	700							poly(A) RNA binding (GO:0044822)	p.F655L(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TGCGTTCCTGGAAACTGACAA	0.373																																																1	Substitution - Missense(1)	kidney(1)											99	88	92					15																	49293222		2197	4295	6492	SO:0001583	missense	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2100C>A	15.37:g.49293222G>T	ENSP00000453854:p.Phe700Leu		Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078801	0.76528	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.76839	-1.05	5.09	0.897	0.19258	.	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	M	0.83118	2.625	0.48696	D	0.999699	D;D	0.67145	0.996;0.993	P;P	0.58266	0.836;0.826	T	0.81814	-0.0760	10	0.48119	T	0.1	.	9.2249	0.37400	0.3818:0.0:0.6182:0.0	.	700;655	Q93073;Q93073-2	SBP2L_HUMAN;.	L	655;700	ENSP00000261847:F655L	ENSP00000261847:F655L	F	-	3	2	SECISBP2L	47080514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.758000	0.38410	0.227000	0.20999	0.563000	0.77884	TTC		0.373	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		T	49293222	G	T	49293222	3	4	558	1	0	0	0	0	1	0	0	0	14013	1165	41	4	1221	4	SECISBP2L	15	49293222	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	5671625	49293222	53238170	70	30237											
MAN2A2	4122	broad.mit.edu;ucsc.edu	37	15	91449980	91449980	+	Silent	SNP	C	C	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr15:91449980C>A	ENST00000559717.1	+	7	1305	c.846C>A	c.(844-846)ccC>ccA	p.P282P	MAN2A2_ENST00000360468.3_Silent_p.P282P|MAN2A2_ENST00000431652.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	282					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.P282P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTGCAACCCCCCGCTCTGGCT	0.647																																																1	Substitution - coding silent(1)	kidney(1)											37	37	37					15																	91449980		2198	4298	6496	SO:0001819	synonymous_variant	4122			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.846C>A	15.37:g.91449980C>A			A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	CCDS32332.1																																																																																				0.647	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		A	91449980	C	A	91449980	2	1	558	1	0	0	0	0	0	0	0	1	9217	610	22	4		4	MAN2A2	15	91449980	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	42156758	91449980	11081412	71	30238											
IFT140	9742	broad.mit.edu	37	16	1570643	1570643	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr16:1570643A>T	ENST00000426508.2	-	27	3983	c.3620T>A	c.(3619-3621)cTg>cAg	p.L1207Q	IFT140_ENST00000361339.5_Missense_Mutation_p.L401Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1207					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.L1207Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CTTGGTGGCCAGGTGGTAGCT	0.672																																																1	Substitution - Missense(1)	kidney(1)											39	34	36					16																	1570643		2196	4299	6495	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3620T>A	16.37:g.1570643A>T	ENSP00000406012:p.Leu1207Gln		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253793	0.80135	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.49720	0.77;0.77	5.78	5.78	0.91487	.	0.168249	0.40640	N	0.001043	T	0.70159	0.3192	M	0.80028	2.48	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.973;0.993	T	0.70769	-0.4782	10	0.39692	T	0.17	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	1207;894	Q96RY7;B4DR58	IF140_HUMAN;.	Q	1207;401;1207	ENSP00000354895:L401Q;ENSP00000406012:L1207Q	ENSP00000354895:L401Q	L	-	2	0	IFT140	1510644	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	9.210000	0.95106	2.333000	0.79357	0.533000	0.62120	CTG		0.672	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		T	1570643	A	T	1570643	3	4	558	1	0	0	0	0	1	0	0	0	7558	188	7	5	788	5	IFT140	16	1570643	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08		1570643	88784110	72	30239											
ATF7IP2	80063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10524764	10524764	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr16:10524764T>G	ENST00000396560.2	+	3	514	c.287T>G	c.(286-288)aTa>aGa	p.I96R	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.I96R|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.I96R|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.I96R	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.I96R(1)		large_intestine(3)	3						CAGAATTGCATAAAACCAGTA	0.353																																																1	Substitution - Missense(1)	kidney(1)											41	45	43					16																	10524764		2196	4299	6495	SO:0001583	missense	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.287T>G	16.37:g.10524764T>G	ENSP00000379808:p.Ile96Arg		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650853	0.47362	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.15	2.69	0.31865	.	1.040080	0.07640	N	0.930121	T	0.47801	0.1465	L	0.36672	1.1	0.09310	N	1	D;D	0.64830	0.994;0.962	P;P	0.62740	0.906;0.778	T	0.38950	-0.9637	10	0.62326	D	0.03	-3.8879	4.0965	0.09993	0.1806:0.099:0.0:0.7204	.	96;96	Q5U623-2;Q5U623	.;MCAF2_HUMAN	R	96	ENSP00000379807:I96R;ENSP00000379808:I96R;ENSP00000440791:I96R;ENSP00000348799:I96R;ENSP00000322811:I96R	ENSP00000322811:I96R	I	+	2	0	ATF7IP2	10432265	0.000000	0.05858	0.054000	0.19295	0.775000	0.43874	0.058000	0.14301	1.948000	0.56530	0.260000	0.18958	ATA		0.353	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		G	10524764	T	G	10524764	3	3	558	1	0	0	0	0	1	0	0	0	1088	1406	49	5	289	5	ATF7IP2	16	10524764	Missense_Mutation	SNP	T	TCGA-CW-5580-01A-01D-1669-08	8954121	10524764	79829989	73	30240											
C16orf78	123970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	49407979	49407979	+	Silent	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr16:49407979G>A	ENST00000299191.3	+	1	246	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	43						nucleus (GO:0005634)		p.G43G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGAGGCAGGGGAAGAAGAAAC	0.498																																																1	Substitution - coding silent(1)	kidney(1)											78	74	75					16																	49407979		2199	4300	6499	SO:0001819	synonymous_variant	123970			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.129G>A	16.37:g.49407979G>A				Silent	SNP	ENST00000299191.3	37	CCDS10738.1																																																																																				0.498	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		A	49407979	G	A	49407979	2	1	558	1	0	0	0	0	0	0	0	1	1837	1161	41	2		2	C16orf78	16	49407979	Silent	SNP	G	TCGA-CW-5580-01A-01D-1669-08	38883215	49407979	40946774	74	30241											
OR3A1	4994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3195481	3195481	+	Silent	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr17:3195481G>A	ENST00000323404.1	-	1	395	c.396C>T	c.(394-396)ccC>ccT	p.P132P	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	132					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P132P(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGTAGGTGAGGGGCCGGCAGA	0.592																																					GBM(20;287 516 18743 28660 36594)											1	Substitution - coding silent(1)	kidney(1)											102	98	99					17																	3195481		2203	4300	6503	SO:0001819	synonymous_variant	4994			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.396C>T	17.37:g.3195481G>A			Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	CCDS11023.1																																																																																				0.592	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			A	3195481	G	A	3195481	2	1	558	1	0	0	0	0	0	0	0	1	11039	1219	43	2		2	OR3A1	17	3195481	Silent	SNP	G	TCGA-CW-5580-01A-01D-1669-08		3195481	77999729	75	30242											
OR1E1	8387	hgsc.bcm.edu	37	17	3301113	3301113	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr17:3301113delC	ENST00000322608.2	-	1	591	c.592delG	c.(592-594)gtgfs	p.V198fs		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	198					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)			endometrium(3)|large_intestine(2)|lung(5)	10						ATAAATATCACCCATTCATTA	0.463																																																0													55	53	54					17																	3301113		2203	4300	6503	SO:0001589	frameshift_variant	8387			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"GPCR / Class A : Olfactory receptors"	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.592delG	17.37:g.3301113delC	ENSP00000313384:p.Val198fs		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Frame_Shift_Del	DEL	ENST00000322608.2	37	CCDS11024.1																																																																																				0.463	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		-	3301113	C	-	3301113	7	5	558	1	0	1	0	1	0	0	0	0	10956	507	18	0	356	0	OR1E1	17	3301113	Frame_Shift_Del	DEL	C	TCGA-CW-5580-01A-01D-1669-08	105632	3301113	77894097	76	30243											
GSG2	83903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3629541	3629541	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr17:3629541A>G	ENST00000325418.4	+	1	2331	c.2312A>G	c.(2311-2313)aAg>aGg	p.K771R	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	771	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)	p.K771R(1)									AAGCAAATTAAGAGAAAAATC	0.408																																																1	Substitution - Missense(1)	kidney(1)											49	49	49					17																	3629541		2203	4300	6503	SO:0001583	missense	83903			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.2312A>G	17.37:g.3629541A>G	ENSP00000325290:p.Lys771Arg		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.426199	0.01117	.	.	ENSG00000177602	ENST00000325418	T	0.06608	3.28	5.51	-7.31	0.01441	Domain of unknown function DUF3635 (1);Protein kinase, catalytic domain (1);	0.538057	0.17538	N	0.170656	T	0.05640	0.0148	L	0.39020	1.185	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08106	-1.0738	10	0.87932	D	0	-4.6545	16.9484	0.86236	0.5137:0.0:0.4863:0.0	.	771	Q8TF76	HASP_HUMAN	R	771	ENSP00000325290:K771R	ENSP00000325290:K771R	K	+	2	0	GSG2	3576290	0.012000	0.17670	0.000000	0.03702	0.002000	0.02628	-0.041000	0.12084	-2.035000	0.00923	-1.139000	0.01908	AAG		0.408	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		G	3629541	A	G	3629541	3	3	558	1	0	0	0	0	1	0	0	0	6824	72	3	3	2314	3	GSG2	17	3629541	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08	328428	3629541	77565669	77	30244											
ACADVL	37	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7125374	7125374	+	Silent	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr17:7125374C>T	ENST00000356839.5	+	8	905	c.726C>T	c.(724-726)acC>acT	p.T242T	DLG4_ENST00000399510.2_5'Flank|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Silent_p.T220T|ACADVL_ENST00000543245.2_Silent_p.T265T	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	242	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)	p.T242T(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AATACTATACCCTCAATGGAA	0.592																																																1	Substitution - coding silent(1)	kidney(1)											106	107	107					17																	7125374		2203	4300	6503	SO:0001819	synonymous_variant	37			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.726C>T	17.37:g.7125374C>T			B4DEB6|F5H2A9|O76056|Q8WUL0	Silent	SNP	ENST00000356839.5	37	CCDS11090.1																																																																																				0.592	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		T	7125374	C	T	7125374	2	4	558	1	0	0	0	0	0	0	0	1	116	610	22	2		2	ACADVL	17	7125374	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	3495833	7125374	74069836	78	30245											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11701032	11701032	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr17:11701032T>C	ENST00000262442.4	+	43	8410	c.8342T>C	c.(8341-8343)cTg>cCg	p.L2781P	DNAH9_ENST00000454412.2_Missense_Mutation_p.L2781P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2781					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L2781P(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCCAGACTCTGGTGGAGGCC	0.498																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											179	139	152					17																	11701032		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8342T>C	17.37:g.11701032T>C	ENSP00000262442:p.Leu2781Pro		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.161137	0.57368	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.33654	1.44;1.4	5.68	5.68	0.88126	.	0.178045	0.38720	N	0.001593	T	0.68604	0.3019	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76898	-0.2789	10	0.87932	D	0	.	15.9259	0.79615	0.0:0.0:0.0:1.0	.	2781	Q9NYC9	DYH9_HUMAN	P	2781;2781;1363	ENSP00000262442:L2781P;ENSP00000414874:L2781P	ENSP00000262442:L2781P	L	+	2	0	DNAH9	11641757	1.000000	0.71417	0.999000	0.59377	0.209000	0.24338	7.988000	0.88194	2.158000	0.67659	0.528000	0.53228	CTG		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		C	11701032	T	C	11701032	3	2	558	1	0	0	0	0	1	0	0	0	4610	1580	55	3	8512	3	DNAH9	17	11701032	Missense_Mutation	SNP	T	TCGA-CW-5580-01A-01D-1669-08	4575658	11701032	69494178	79	30246											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11835416	11835416	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr17:11835416G>A	ENST00000262442.4	+	64	12259	c.12191G>A	c.(12190-12192)aGa>aAa	p.R4064K	DNAH9_ENST00000608377.1_Missense_Mutation_p.R376K|DNAH9_ENST00000454412.2_Missense_Mutation_p.R3988K|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4064	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R4064K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGGCAGAAAGACGAAAATTT	0.493																																																1	Substitution - Missense(1)	kidney(1)											243	218	227					17																	11835416		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12191G>A	17.37:g.11835416G>A	ENSP00000262442:p.Arg4064Lys		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295314	0.81025	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.28666	1.6;1.6;1.6	5.09	5.09	0.68999	Dynein heavy chain (1);	0.061922	0.85682	D	0.000000	T	0.78168	0.4241	H	0.99946	5.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89531	0.3785	10	0.87932	D	0	.	18.6962	0.91601	0.0:0.0:1.0:0.0	.	4064	Q9NYC9	DYH9_HUMAN	K	4064;3988;2570;376	ENSP00000262442:R4064K;ENSP00000414874:R3988K;ENSP00000379323:R376K	ENSP00000262442:R4064K	R	+	2	0	DNAH9	11776141	1.000000	0.71417	0.987000	0.45799	0.105000	0.19272	9.601000	0.98297	2.633000	0.89246	0.655000	0.94253	AGA		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		A	11835416	G	A	11835416	3	1	558	1	0	0	0	0	1	0	0	0	4610	942	33	2	12445	2	DNAH9	17	11835416	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	134384	11835416	69359794	80	30247											
HNF1B	6928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36091725	36091725	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr17:36091725G>C	ENST00000225893.4	-	4	1267	c.906C>G	c.(904-906)aaC>aaG	p.N302K	HNF1B_ENST00000560016.1_Missense_Mutation_p.N302K|HNF1B_ENST00000561193.1_Missense_Mutation_p.N276K|HNF1B_ENST00000427275.2_Missense_Mutation_p.N276K	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	302					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N302K(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCTTCCTGCGGTTTGCAAACC	0.612																																					Colon(71;102 1179 9001 27917 43397)											2	Substitution - Missense(2)	kidney(2)											140	113	122					17																	36091725		2203	4300	6503	SO:0001583	missense	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.906C>G	17.37:g.36091725G>C	ENSP00000225893:p.Asn302Lys		B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366508	0.82463	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.99329	-5.75;-5.75	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.178173	0.64402	D	0.000011	D	0.99309	0.9758	M	0.80616	2.505	0.80722	D	1	D;D;P	0.59357	0.968;0.985;0.891	P;P;B	0.61658	0.791;0.892;0.412	D	0.99208	1.0875	10	0.87932	D	0	-0.2386	17.7156	0.88336	0.0:0.0:1.0:0.0	.	276;302;302	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	K	302;276;302;190	ENSP00000225893:N302K;ENSP00000412212:N276K	ENSP00000225893:N302K	N	-	3	2	HNF1B	33165838	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.334000	0.59291	2.775000	0.95449	0.655000	0.94253	AAC		0.612	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		C	36091725	G	C	36091725	3	2	558	1	0	0	0	0	1	0	0	0	7254	1252	44	4	791	4	HNF1B	17	36091725	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	24256309	36091725	45103485	81	30248											
CA4	762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	58234007	58234007	+	Silent	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr17:58234007C>T	ENST00000300900.4	+	3	298	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	67					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.L67L(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GGACAAAAAACTGGGACGCTT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											111	98	102					17																	58234007		2203	4300	6503	SO:0001819	synonymous_variant	762			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"Carbonic anhydrases"	1375	protein-coding gene	gene with protein product		114760	"retinitis pigmentosa 17 (autosomal dominant)"	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.199C>T	17.37:g.58234007C>T			B4DQA4|Q6FHI7	Silent	SNP	ENST00000300900.4	37	CCDS11624.1																																																																																				0.567	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		T	58234007	C	T	58234007	2	4	558	1	0	0	0	0	0	0	0	1	2520	564	20	2		2	CA4	17	58234007	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	22142282	58234007	22961203	82	30249											
ITGB4	3691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73736440	73736440	+	Splice_Site	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr17:73736440G>A	ENST00000200181.3	+	21	2635	c.2448G>A	c.(2446-2448)gtG>gtA	p.V816V	ITGB4_ENST00000339591.3_Splice_Site_p.V816V|ITGB4_ENST00000450894.3_Splice_Site_p.V816V|ITGB4_ENST00000579662.1_Splice_Site_p.V816V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Splice_Site_p.V816V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	816					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.V816V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTCCTTAGTGCCCTACGGGC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											52	45	47					17																	73736440		2203	4300	6503	SO:0001630	splice_region_variant	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2447-1G>A	17.37:g.73736440G>A			A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	CCDS11727.1																																																																																				0.647	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		Silent	A	73736440	G	A	73736440	5	1	558	1	0	0	0	0	0	0	1	0	7899	1333	46	2	2526	2	ITGB4	17	73736440	Splice_Site	SNP	G	TCGA-CW-5580-01A-01D-1669-08	15502433	73736440	7458770	83	30250											
EPB41L3	23136	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	5406847	5406847	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr18:5406847A>T	ENST00000341928.2	-	16	2618	c.2278T>A	c.(2278-2280)Tcc>Acc	p.S760T	EPB41L3_ENST00000542146.1_Missense_Mutation_p.S32T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S32T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.S579T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S591T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S760T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.S579T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	760	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.S760T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGGGAGGTGGAAAGCCTCTTC	0.522																																																1	Substitution - Missense(1)	kidney(1)											172	138	149					18																	5406847		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2278T>A	18.37:g.5406847A>T	ENSP00000343158:p.Ser760Thr		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166782	0.78339	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;T;T;D;D	0.85484	-1.69;-1.99;-0.28;-0.2;-1.69;-1.91	5.78	5.78	0.91487	SAB (1);	0.098330	0.64402	D	0.000001	D	0.88392	0.6424	L	0.43152	1.355	0.80722	D	1	D;D;D;P;D;P;D;D	0.89917	0.982;0.994;0.993;0.793;0.992;0.801;0.996;1.0	D;D;D;P;D;B;D;D	0.87578	0.961;0.991;0.99;0.78;0.987;0.337;0.985;0.998	D	0.84579	0.0660	10	0.11182	T	0.66	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	591;32;32;152;470;579;760;32	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	T	760;470;591;470;32;32;760;579	ENSP00000343158:S760T;ENSP00000441174:S591T;ENSP00000392195:S32T;ENSP00000442233:S32T;ENSP00000341138:S760T;ENSP00000382981:S579T	ENSP00000343158:S760T	S	-	1	0	EPB41L3	5396847	1.000000	0.71417	0.983000	0.44433	0.640000	0.38277	8.962000	0.93254	2.220000	0.72140	0.533000	0.62120	TCC		0.522	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		T	5406847	A	T	5406847	3	4	558	1	0	0	0	0	1	0	0	0	5156	246	9	5	1013	5	EPB41L3	18	5406847	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08		5406847	72670401	84	30251											
KIAA1632	57724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	43492338	43492338	+	Silent	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr18:43492338G>A	ENST00000282041.5	-	22	3934	c.3900C>T	c.(3898-3900)gtC>gtT	p.V1300V	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1300					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.V1300V(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAGAAGGTGTGACCAGAGCCT	0.547																																																1	Substitution - coding silent(1)	kidney(1)											58	67	64					18																	43492338		1946	4125	6071	SO:0001819	synonymous_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3900C>T	18.37:g.43492338G>A			A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	CCDS11926.2																																																																																				0.547	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		A	43492338	G	A	43492338	2	1	558	1	0	0	0	0	0	0	0	1	8251	1277	45	2		2	KIAA1632	18	43492338	Silent	SNP	G	TCGA-CW-5580-01A-01D-1669-08	38085491	43492338	34584910	85	30252											
OR7A5	26659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14938974	14938974	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr19:14938974A>G	ENST00000322301.3	-	2	167	c.80T>C	c.(79-81)cTc>cCc	p.L27P	OR7A5_ENST00000594432.1_Missense_Mutation_p.L27P|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	27					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)	p.L27P(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CAGCCCAAAGAGGAAGGGTTG	0.478																																																1	Substitution - Missense(1)	kidney(1)											60	56	58					19																	14938974		2203	4300	6503	SO:0001583	missense	26659			X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.80T>C	19.37:g.14938974A>G	ENSP00000316955:p.Leu27Pro		B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	a	13.49	2.253852	0.39896	.	.	ENSG00000188269	ENST00000322301	T	0.17691	2.26	3.13	3.13	0.36017	.	0.315632	0.17086	N	0.187566	T	0.39682	0.1087	M	0.92507	3.315	0.09310	N	0.999998	P	0.52577	0.954	P	0.52909	0.713	T	0.35525	-0.9785	10	0.87932	D	0	.	9.762	0.40537	1.0:0.0:0.0:0.0	.	27	Q15622	OR7A5_HUMAN	P	27	ENSP00000316955:L27P	ENSP00000316955:L27P	L	-	2	0	OR7A5	14799974	0.016000	0.18221	0.007000	0.13788	0.187000	0.23431	2.814000	0.48010	1.474000	0.48178	0.113000	0.15668	CTC		0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		G	14938974	A	G	14938974	3	3	558	1	0	0	0	0	1	0	0	0	11218	304	11	3	883	3	OR7A5	19	14938974	Missense_Mutation	SNP	A	TCGA-CW-5580-01A-01D-1669-08		14938974	44190009	86	30253											
CCDC155	147872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49897747	49897747	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr19:49897747C>T	ENST00000447857.3	+	3	263	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	20						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R20W(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCTCCGGGAGCGGCCTGAGGA	0.607																																																1	Substitution - Missense(1)	kidney(1)											70	74	73					19																	49897747		2085	4227	6312	SO:0001583	missense	147872				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.58C>T	19.37:g.49897747C>T	ENSP00000404220:p.Arg20Trp		Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614557	0.28712	.	.	ENSG00000161609	ENST00000447857	T	0.32023	1.47	4.96	3.91	0.45181	.	0.284575	0.25944	N	0.027293	T	0.19565	0.0470	N	0.22421	0.69	0.21355	N	0.999717	B	0.02656	0.0	B	0.04013	0.001	T	0.11060	-1.0603	10	0.62326	D	0.03	-20.0934	8.5843	0.33649	0.0:0.895:0.0:0.105	.	20	Q8N6L0	CC155_HUMAN	W	20	ENSP00000404220:R20W	ENSP00000404220:R20W	R	+	1	2	CCDC155	54589559	0.874000	0.30092	0.976000	0.42696	0.052000	0.14988	1.451000	0.35145	2.465000	0.83290	0.462000	0.41574	CGG		0.607	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		T	49897747	C	T	49897747	3	4	558	1	0	0	0	0	1	0	0	0	2790	759	27	1	64	1	CCDC155	19	49897747	Missense_Mutation	SNP	C	TCGA-CW-5580-01A-01D-1669-08	34958773	49897747	9231236	87	30254											
LILRB5	10990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54760026	54760026	+	Silent	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr19:54760026G>A	ENST00000316219.5	-	4	642	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Silent_p.L179L|LILRB5_ENST00000450632.1_Silent_p.L170L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	179	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.L179L(1)|p.L170L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGGGAACAGGGCCTGGGAT	0.552																																																2	Substitution - coding silent(2)	kidney(2)											56	66	63					19																	54760026		2203	4300	6503	SO:0001819	synonymous_variant	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.535C>T	19.37:g.54760026G>A			Q8N760	Silent	SNP	ENST00000316219.5	37	CCDS12885.1																																																																																				0.552	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			A	54760026	G	A	54760026	2	1	558	1	0	0	0	0	0	0	0	1	8796	991	35	2		2	LILRB5	19	54760026	Silent	SNP	G	TCGA-CW-5580-01A-01D-1669-08	4862279	54760026	4368957	88	30255											
NLRP7	199713	broad.mit.edu	37	19	55451068	55451068	+	Silent	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr19:55451068C>T	ENST00000590030.1	-	3	1159	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	NLRP7_ENST00000446217.1_Silent_p.L401L|NLRP7_ENST00000592784.1_Silent_p.L373L|NLRP7_ENST00000448121.2_Silent_p.L373L|NLRP7_ENST00000340844.2_Silent_p.L373L|NLRP7_ENST00000328092.5_Silent_p.L373L|NLRP7_ENST00000588756.1_Silent_p.L373L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	373	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.L373L(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTGCAGCTTCAGAGTCGTGC	0.662																																																2	Substitution - coding silent(2)	kidney(2)											30	32	31					19																	55451068		2198	4299	6497	SO:0001819	synonymous_variant	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1119G>A	19.37:g.55451068C>T			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	CCDS33109.1																																																																																				0.662	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		T	55451068	C	T	55451068	2	4	558	1	0	0	0	0	0	0	0	1	10484	813	29	2		2	NLRP7	19	55451068	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	691042	55451068	3677915	89	30256											
ZNF419	79744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58005254	58005254	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr19:58005254G>A	ENST00000221735.7	+	5	1515	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	ZNF419_ENST00000442920.2_Missense_Mutation_p.M430I|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.M431I|ZNF419_ENST00000424930.2_Missense_Mutation_p.M444I|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.M411I|ZNF419_ENST00000415379.2_Missense_Mutation_p.M397I			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M411I(1)|p.M418I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CAACCCTCATGCAACATCGAA	0.423																																																2	Substitution - Missense(2)	kidney(2)											115	121	119					19																	58005254		2203	4300	6503	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1329G>A	19.37:g.58005254G>A	ENSP00000221735:p.Met443Ile		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	G	0.608	-0.826113	0.02734	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	2.11	-0.544	0.11847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04861	0.0131	N	0.02192	-0.645	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.001;0.0;0.001	B;B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.002;0.0;0.001;0.0	T	0.42982	-0.9419	9	0.08381	T	0.77	.	5.1677	0.15094	0.1727:0.0:0.53:0.2973	.	397;397;430;431;444;411;443	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	I	418;444;431;430;444;411;397;443	ENSP00000388864:M444I;ENSP00000390916:M431I;ENSP00000414709:M430I;ENSP00000299860:M411I;ENSP00000392129:M397I;ENSP00000221735:M443I	ENSP00000221735:M443I	M	+	3	0	ZNF419	62697066	0.000000	0.05858	0.000000	0.03702	0.748000	0.42578	-4.664000	0.00201	-0.385000	0.07833	0.205000	0.17691	ATG		0.423	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		A	58005254	G	A	58005254	3	1	558	1	0	0	0	0	1	0	0	0	17901	1319	46	2	1350	2	ZNF419	19	58005254	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	2554186	58005254	1123729	90	30257											
C20orf4	25980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34828159	34828159	+	Silent	SNP	G	G	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr20:34828159G>C	ENST00000373932.3	+	2	715	c.369G>C	c.(367-369)ggG>ggC	p.G123G	AAR2_ENST00000397286.3_Silent_p.G123G|AAR2_ENST00000320849.4_Silent_p.G123G	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	123								p.G123G(1)									AGTTCCTGGGGCCTTACCCAT	0.582																																																1	Substitution - coding silent(1)	kidney(1)											96	96	96					20																	34828159		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 4"	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.369G>C	20.37:g.34828159G>C			E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Silent	SNP	ENST00000373932.3	37	CCDS13273.1																																																																																				0.582	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		C	34828159	G	C	34828159	2	2	558	1	0	0	0	0	0	0	0	1	2113	1190	42	4		4	C20orf4	20	34828159	Silent	SNP	G	TCGA-CW-5580-01A-01D-1669-08		34828159	28197361	91	30258											
RPN2	6185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	35842239	35842239	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr20:35842239G>T	ENST00000237530.6	+	9	1374	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	RPN2_ENST00000373622.5_Missense_Mutation_p.D323Y	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	355					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)	p.D355Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AGTTGAAGGTGACAACCGGTA	0.373																																																1	Substitution - Missense(1)	kidney(1)											148	135	139					20																	35842239		2203	4300	6503	SO:0001583	missense	6185			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1063G>T	20.37:g.35842239G>T	ENSP00000237530:p.Asp355Tyr		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887715	0.72410	.	.	ENSG00000118705	ENST00000237530;ENST00000373622	T;T	0.51574	0.7;0.7	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.998	T	0.69506	-0.5127	10	0.72032	D	0.01	-21.244	16.2425	0.82423	0.0:0.0:1.0:0.0	.	230;323;355;355	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	Y	355;323	ENSP00000237530:D355Y;ENSP00000362724:D323Y	ENSP00000237530:D355Y	D	+	1	0	RPN2	35275653	1.000000	0.71417	0.993000	0.49108	0.736000	0.42039	7.802000	0.85969	2.700000	0.92200	0.557000	0.71058	GAC		0.373	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		T	35842239	G	T	35842239	3	4	558	1	0	0	0	0	1	0	0	0	13614	1290	45	4	1097	4	RPN2	20	35842239	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	1014080	35842239	27183281	92	30259											
MC3R	4159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	54824370	54824370	+	Silent	SNP	C	C	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr20:54824370C>A	ENST00000243911.2	+	1	583	c.471C>A	c.(469-471)acC>acA	p.T157T		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	157					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.T194T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GCATCATGACCGTGAGGAAGG	0.582																																																1	Substitution - coding silent(1)	kidney(1)											207	187	194					20																	54824370		2203	4300	6503	SO:0001819	synonymous_variant	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.471C>A	20.37:g.54824370C>A			Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	CCDS13449.2																																																																																				0.582	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			A	54824370	C	A	54824370	2	1	558	1	0	0	0	0	0	0	0	1	9367	639	23	4		4	MC3R	20	54824370	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	18982131	54824370	8201150	93	30260											
CYP2D6	1565	hgsc.bcm.edu	37	22	42524795	42524795	+	Silent	SNP	A	A	G	rs28371713	byFrequency	TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chr22:42524795A>G	ENST00000360608.5	-	4	771	c.657T>C	c.(655-657)ttT>ttC	p.F219F	CYP2D6_ENST00000389970.3_Silent_p.F219F|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.F168F|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	219					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCTCGCGCAGAAAGCCCGACT	0.667																																																0													34	28	30					22																	42524795		2199	4299	6498	SO:0001819	synonymous_variant	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.657T>C	22.37:g.42524795A>G			Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	CCDS46721.1																																																																																				0.667	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			G	42524795	A	G	42524795	2	3	558	1	0	0	0	0	0	0	0	1	4171	243	9	3		3	CYP2D6	22	42524795	Silent	SNP	A	TCGA-CW-5580-01A-01D-1669-08		42524795	8779771	94	30261											
WWC3	55841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	10085338	10085338	+	Silent	SNP	C	C	T	rs148094144		TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chrX:10085338C>T	ENST00000380861.4	+	11	1630	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	WWC3_ENST00000454666.1_Silent_p.F413F	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	413	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.F413F(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TTCTACGCTTCGACCTCATTC	0.662																																																1	Substitution - coding silent(1)	kidney(1)						C		1,3834		0,1,1631,571	75	72	73		1239	-7.1	0.4	X	dbSNP_134	73	0,6728		0,0,2428,1872	no	coding-synonymous	WWC3	NM_015691.3		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		413/1093	10085338	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1239C>T	X.37:g.10085338C>T			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	CCDS14136.1																																																																																				0.662	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		T	10085338	C	T	10085338	2	4	558	1	0	0	0	0	0	0	0	1	17418	883	31	1		1	WWC3	23	10085338	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08		10085338	145185222	95	30262											
HCCS	3052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	11139773	11139773	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chrX:11139773G>A	ENST00000321143.4	+	7	852	c.650G>A	c.(649-651)cGt>cAt	p.R217H	HCCS_ENST00000380762.4_Missense_Mutation_p.R217H|HCCS_ENST00000380763.3_Missense_Mutation_p.R217H|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	217			R -> C (in MCOPS7). {ECO:0000269|PubMed:17033964}.		organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)	p.R217H(1)		kidney(1)|large_intestine(3)|lung(3)	7						ATCATAAACCGTTGCGGGACA	0.428																																					Ovarian(86;1338 1347 1462 10340 37882)											1	Substitution - Missense(1)	kidney(1)											187	160	169					X																	11139773		2203	4300	6503	SO:0001583	missense	3052				CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"cytochrome c heme-lyase"	300056	"holocytochrome c synthase (cytochrome c heme-lyase)", "microphthalamia with linear skin defects"	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.650G>A	X.37:g.11139773G>A	ENSP00000326579:p.Arg217His		B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236027	0.79800	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.92545	-3.06;-3.06;-3.06	6.05	3.26	0.37387	.	0.047606	0.85682	N	0.000000	D	0.96842	0.8969	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94995	0.8138	10	0.87932	D	0	-7.5709	7.7372	0.28821	0.0786:0.0:0.6331:0.2883	.	217	P53701	CCHL_HUMAN	H	217	ENSP00000326579:R217H;ENSP00000370140:R217H;ENSP00000370139:R217H	ENSP00000326579:R217H	R	+	2	0	HCCS	11049694	1.000000	0.71417	0.454000	0.27019	0.984000	0.73092	9.239000	0.95389	0.247000	0.21414	0.594000	0.82650	CGT		0.428	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			A	11139773	G	A	11139773	3	1	558	1	0	0	0	0	1	0	0	0	6992	1145	40	1	672	1	HCCS	23	11139773	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	1054435	11139773	144130787	96	30263											
MAP3K15	389840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	19389075	19389075	+	Splice_Site	SNP	A	A	C			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chrX:19389075A>C	ENST00000338883.4	-	24	3400		c.e24+1		MAP3K15_ENST00000469203.2_Splice_Site|MAP3K15_ENST00000518578.1_Splice_Site|MAP3K15_ENST00000359173.3_Splice_Site	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15								ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.?(2)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GGGGGCGCTCACCTGGGATGA	0.488																																																2	Unknown(2)	kidney(2)											66	63	64					X																	19389075		2203	4300	6503	SO:0001630	splice_region_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3400+1T>G	X.37:g.19389075A>C			A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Splice_Site	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	A	13.98	2.399528	0.42512	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	.	.	.	5.25	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2991	0.43642	0.921:0.0:0.079:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K15	19298996	1.000000	0.71417	0.550000	0.28217	0.386000	0.30323	7.050000	0.76620	0.748000	0.32831	0.451000	0.29950	.		0.488	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	Intron	C	19389075	A	C	19389075	5	2	558	1	0	0	0	0	0	0	1	0	9251	173	6	5	563	5	MAP3K15	23	19389075	Splice_Site	SNP	A	TCGA-CW-5580-01A-01D-1669-08	8249302	19389075	135881485	97	30264											
DDX53	168400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	23019821	23019821	+	Silent	SNP	C	C	T			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chrX:23019821C>T	ENST00000327968.5	+	1	1735	c.1647C>T	c.(1645-1647)gaC>gaT	p.D549D	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	549	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.D549D(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GGAATATTGACGTATATGTAC	0.388																																																1	Substitution - coding silent(1)	kidney(1)											121	112	115					X																	23019821		2203	4300	6503	SO:0001819	synonymous_variant	168400			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1647C>T	X.37:g.23019821C>T			Q0D2N2|Q6NVV4	Silent	SNP	ENST00000327968.5	37	CCDS35214.1																																																																																				0.388	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		T	23019821	C	T	23019821	2	4	558	1	0	0	0	0	0	0	0	1	4373	535	19	1		1	DDX53	23	23019821	Silent	SNP	C	TCGA-CW-5580-01A-01D-1669-08	3630746	23019821	132250739	98	30265											
FAM123B	139285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	63412535	63412535	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chrX:63412535G>A	ENST00000330258.3	-	2	904	c.632C>T	c.(631-633)gCc>gTc	p.A211V	AMER1_ENST00000403336.1_Missense_Mutation_p.A211V|AMER1_ENST00000374869.3_Missense_Mutation_p.A211V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	211					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.A211V(2)									CACCTGAGGGGCTGAGCTCAC	0.592																																																69	Whole gene deletion(67)|Substitution - Missense(2)	kidney(67)|ovary(1)|large_intestine(1)											50	46	47					X																	63412535		2202	4297	6499	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.632C>T	X.37:g.63412535G>A	ENSP00000329117:p.Ala211Val		A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	4.631	0.117340	0.08881	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.13778	2.56;2.56;2.56	5.13	0.0126	0.14092	.	1.321610	0.04815	N	0.435942	T	0.13200	0.0320	M	0.62723	1.935	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.38090	-0.9677	10	0.11794	T	0.64	0.0364	3.8736	0.09047	0.4257:0.0:0.2851:0.2892	.	211	Q5JTC6	F123B_HUMAN	V	211	ENSP00000364003:A211V;ENSP00000329117:A211V;ENSP00000384722:A211V	ENSP00000329117:A211V	A	-	2	0	FAM123B	63329260	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-0.051000	0.11885	-0.265000	0.09352	0.600000	0.82982	GCC		0.592	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		A	63412535	G	A	63412535	3	1	558	1	0	0	0	0	1	0	0	0	5425	1203	42	2	2779	2	FAM123B	23	63412535	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	40392714	63412535	91858025	99	30266											
NKRF	55922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	118723545	118723545	+	Missense_Mutation	SNP	G	G	T	rs140452307	byFrequency	TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chrX:118723545G>T	ENST00000371527.1	-	2	2495	c.1843C>A	c.(1843-1845)Cgc>Agc	p.R615S	NKRF_ENST00000542113.1_Missense_Mutation_p.R630S|NKRF_ENST00000304449.5_Missense_Mutation_p.R615S|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	615	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.			AR -> ES (in Ref. 1; CAB56459). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R615S(1)|p.R630S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CTCTCGGAGCGGGCGTAGTTT	0.443																																																2	Substitution - Missense(2)	kidney(2)											153	134	140					X																	118723545		2203	4300	6503	SO:0001583	missense	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1843C>A	X.37:g.118723545G>T	ENSP00000360582:p.Arg615Ser		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	G	1.135	-0.651183	0.03506	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.43688	0.95;0.95;0.94	5.77	5.77	0.91146	Single-stranded nucleic acid binding R3H (3);	0.507790	0.22516	N	0.059023	T	0.22282	0.0537	N	0.11201	0.11	0.34346	D	0.68934	B	0.02656	0.0	B	0.06405	0.002	T	0.16897	-1.0387	10	0.06236	T	0.91	-8.2935	13.4935	0.61411	0.0:0.152:0.848:0.0	.	615	O15226	NKRF_HUMAN	S	615;615;630	ENSP00000360582:R615S;ENSP00000304803:R615S;ENSP00000442308:R630S	ENSP00000304803:R615S	R	-	1	0	NKRF	118607573	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	2.671000	0.46842	2.424000	0.82194	0.600000	0.82982	CGC		0.443	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		T	118723545	G	T	118723545	3	4	558	1	0	0	0	0	1	0	0	0	10449	1116	39	4	233	4	NKRF	23	118723545	Missense_Mutation	SNP	G	TCGA-CW-5580-01A-01D-1669-08	55311010	118723545	36547015	100	30267											
ODZ1	10178	hgsc.bcm.edu;ucsc.edu	37	X	123556363	123556363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chrX:123556363delG	ENST00000371130.3	-	23	4272	c.4209delC	c.(4207-4209)cccfs	p.P1403fs	STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000422452.2_Frame_Shift_Del_p.P1410fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1403					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGCAGTGAATGGGGCGTCCTG	0.498																																																0													118	97	104					X																	123556363		2203	4300	6503	SO:0001589	frameshift_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4209delC	X.37:g.123556363delG	ENSP00000360171:p.Pro1403fs		B2RTR5|Q5JZ17	Frame_Shift_Del	DEL	ENST00000371130.3	37	CCDS14609.1																																																																																				0.498	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		-	123556363	G	-	123556363	7	5	558	1	0	1	0	1	0	0	0	0	10836	1335	47	0	4004	0	ODZ1	23	123556363	Frame_Shift_Del	DEL	G	TCGA-CW-5580-01A-01D-1669-08	4832818	123556363	31714197	101	30268											
DCAF12L1	139170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	125686496	125686496	+	Silent	SNP	G	G	A			TCGA-CW-5580-01A-01D-1669-08	TCGA-CW-5580-11A-02D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e4ed3ae-aa80-453a-95be-0af96a7bc4e3	54af26e6-d457-44ae-b574-4e74df45fd7c	g.chrX:125686496G>A	ENST00000371126.1	-	1	338	c.96C>T	c.(94-96)gaC>gaT	p.D32D		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	32								p.D32D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCCCTCACCGTCCGCTGCCG	0.697																																																1	Substitution - coding silent(1)	kidney(1)											17	22	20					X																	125686496		2017	3976	5993	SO:0001819	synonymous_variant	139170			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.96C>T	X.37:g.125686496G>A			Q8IYK3	Silent	SNP	ENST00000371126.1	37	CCDS14610.1																																																																																				0.697	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		A	125686496	G	A	125686496	2	1	558	1	0	0	0	0	0	0	0	1	4266	1136	40	1		1	DCAF12L1	23	125686496	Silent	SNP	G	TCGA-CW-5580-01A-01D-1669-08	2130133	125686496	29584064	102	30269											
CSMD2	114784	broad.mit.edu;ucsc.edu	37	1	34189862	34189862	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr1:34189862C>A	ENST00000373381.4	-	19	3112	c.2936G>T	c.(2935-2937)gGg>gTg	p.G979V		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	939	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G939V(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCAGGGAACCCTGGCGACAA	0.532																																																1	Substitution - Missense(1)	kidney(1)											113	100	105					1																	34189862		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2936G>T	1.37:g.34189862C>A	ENSP00000362479:p.Gly979Val		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	29.6	5.019685	0.93462	.	.	ENSG00000121904	ENST00000373381	T	0.18174	2.23	5.64	5.64	0.86602	CUB (5);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58869	-0.7560	10	0.87932	D	0	.	18.7083	0.91646	0.0:1.0:0.0:0.0	.	939;979	Q7Z408;E7EUA6	CSMD2_HUMAN;.	V	979	ENSP00000362479:G979V	ENSP00000241312:G939V	G	-	2	0	CSMD2	33962449	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.661000	0.90470	0.561000	0.74099	GGG		0.532	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		A	34189862	C	A	34189862	3	1	559	1	0	0	0	0	1	0	0	0	3947	623	22	4	7851	4	CSMD2	1	34189862	Missense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10		34189862	215060759	1	30270											
THBS3	7059	broad.mit.edu;hgsc.bcm.edu	37	1	155172612	155172613	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr1:155172612_155172613GT>TA	ENST00000368378.3	-	8	967_968	c.947_948AC>TA	c.(946-948)gAC>gTA	p.D316V	RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D196V	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	316	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D316V(1)|p.D316E(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCATTGATGTCACTGCAGTG	0.609																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.947_948delinsTA	1.37:g.155172612_155172613delinsTA	ENSP00000357362:p.Asp316Val		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1																																																																																				0.609	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		TA	155172613	GT	TA	155172612	3	4	559	1	0	0	0	0	1	0	0	0	15860	1368	48	4	1986	4	THBS3	1	155172612	Missense_Mutation	DNP	GT	TCGA-CW-5581-01A-02D-1534-10	120982750	155172612	94078009	2	30271											
ZBTB41	360023	hgsc.bcm.edu;ucsc.edu	37	1	197159958	197159959	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr1:197159958_197159959delAA	ENST00000367405.4	-	3	1399_1400	c.1331_1332delTT	c.(1330-1332)tttfs	p.F444fs	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTTCAGGATGAAATCTATCAGA	0.277																																																0																																										SO:0001589	frameshift_variant	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1331_1332delTT	1.37:g.197159958_197159959delAA	ENSP00000356375:p.Phe444fs		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Frame_Shift_Del	DEL	ENST00000367405.4	37	CCDS30960.1																																																																																				0.277	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		-	197159959	AA	-	197159958	7	5	559	1	0	1	0	1	0	0	0	0	17548	243	9	0	1429	0	ZBTB41	1	197159958	Frame_Shift_Del	DEL	AA	TCGA-CW-5581-01A-02D-1534-10	41987346	197159958	52090663	3	30272											
TNNI1	7135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201384351	201384351	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr1:201384351A>G	ENST00000361379.4	-	4	139	c.47T>C	c.(46-48)cTc>cCc	p.L16P	TNNI1_ENST00000367312.1_Missense_Mutation_p.L16P|TNNI1_ENST00000336092.4_Missense_Mutation_p.L16P|TNNI1_ENST00000555948.1_Missense_Mutation_p.L16P	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	16	Involved in binding TNC.				muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)	p.L16P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTTCAGCAAGAGTTTGCGGGA	0.582																																																1	Substitution - Missense(1)	kidney(1)											41	43	42					1																	201384351		2203	4300	6503	SO:0001583	missense	7135			BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"troponin I, skeletal, slow"			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.47T>C	1.37:g.201384351A>G	ENSP00000354488:p.Leu16Pro		A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Missense_Mutation	SNP	ENST00000361379.4	37	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.480973	0.44044	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000555948;ENST00000367312;ENST00000556362	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95253	0.8361	10	0.38643	T	0.18	-2.0678	13.9222	0.63940	1.0:0.0:0.0:0.0	.	16	P19237	TNNI1_HUMAN	P	16	ENSP00000354488:L16P;ENSP00000337022:L16P;ENSP00000451307:L16P;ENSP00000356281:L16P;ENSP00000451776:L16P	ENSP00000337022:L16P	L	-	2	0	TNNI1	199650974	1.000000	0.71417	0.875000	0.34327	0.242000	0.25591	8.628000	0.90979	1.743000	0.51761	0.528000	0.53228	CTC		0.582	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281		G	201384351	A	G	201384351	3	3	559	1	0	0	0	0	1	0	0	0	16331	304	11	3	536	3	TNNI1	1	201384351	Missense_Mutation	SNP	A	TCGA-CW-5581-01A-02D-1534-10	4224393	201384351	47866270	4	30273											
JMJD4	65094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227921679	227921679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr1:227921679C>T	ENST00000366758.3	-	3	620	c.621G>A	c.(619-621)tgG>tgA	p.W207*	SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000485807.1_5'UTR|JMJD4_ENST00000438896.2_Nonsense_Mutation_p.W207*|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	207	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.							p.W207*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				ACTCATTCAGCCAGTCGGACG	0.617																																																1	Substitution - Nonsense(1)	kidney(1)											146	117	127					1																	227921679		2203	4300	6503	SO:0001587	stop_gained	65094			AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.621G>A	1.37:g.227921679C>T	ENSP00000355720:p.Trp207*		Q5TBZ1|Q5TBZ6|Q9H970	Nonsense_Mutation	SNP	ENST00000366758.3	37	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	20.6|20.6	4.022835|4.022835	0.75275|0.75275	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000438896|ENST00000366758	.|.	.|.	.|.	4.16|4.16	4.16|4.16	0.48862|0.48862	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.34424|.	0.0897|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31833|.	-0.9929|.	3|.	.|0.02654	.|T	.|1	-20.6051|-20.6051	14.3236|14.3236	0.66505|0.66505	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	200|207	.|.	.|ENSP00000355720:W207X	G|W	-|-	2|3	0|0	JMJD4|JMJD4	225988302|225988302	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.427000|0.427000	0.31564|0.31564	6.960000|6.960000	0.76036|0.76036	2.291000|2.291000	0.77112|0.77112	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.617	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		T	227921679	C	T	227921679	4	4	559	1	0	0	0	0	0	1	0	0	7953	740	26	2	786	2	JMJD4	1	227921679	Nonsense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10	26537328	227921679	21328942	5	30274											
LPIN1	23175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11919652	11919652	+	Missense_Mutation	SNP	G	G	A	rs367859334		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:11919652G>A	ENST00000256720.2	+	6	823	c.730G>A	c.(730-732)Ggt>Agt	p.G244S	LPIN1_ENST00000425416.2_Missense_Mutation_p.G250S|LPIN1_ENST00000396099.1_Missense_Mutation_p.G286S|LPIN1_ENST00000449576.2_Missense_Mutation_p.G329S|LPIN1_ENST00000396098.1_Missense_Mutation_p.G286S|LPIN1_ENST00000396097.1_5'UTR	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	244					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.G244S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAGTCCTTCCGGTTCCCGACC	0.453											OREG0014444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)						G	SER/GLY	0,4406		0,0,2203	86	86	86		730	0.6	0.9	2		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPIN1	NM_145693.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	244/891	11919652	1,13005	2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.730G>A	2.37:g.11919652G>A	ENSP00000256720:p.Gly244Ser	675	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354542	0.24512	0.0	1.16E-4	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	T;D;T;T;T	0.87650	-1.31;-2.28;-1.3;-1.27;-1.27	4.85	0.569	0.17340	.	2.789360	0.00786	N	0.001318	D	0.83418	0.5250	L	0.59436	1.845	0.09310	N	0.999997	P;B;P	0.40875	0.676;0.018;0.731	B;B;B	0.38296	0.146;0.007;0.27	T	0.66532	-0.5900	10	0.20519	T	0.43	-2.2024	5.2921	0.15733	0.0707:0.1257:0.5437:0.2598	.	329;244;286	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	S	329;286;286;250;244	ENSP00000397908:G329S;ENSP00000379405:G286S;ENSP00000379406:G286S;ENSP00000401522:G250S;ENSP00000256720:G244S	ENSP00000256720:G244S	G	+	1	0	LPIN1	11837103	0.982000	0.34865	0.905000	0.35620	0.730000	0.41778	2.482000	0.45224	0.178000	0.19917	0.557000	0.71058	GGT		0.453	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		A	11919652	G	A	11919652	3	1	559	1	0	0	0	0	1	0	0	0	8920	1116	39	1	748	1	LPIN1	2	11919652	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10		11919652	231279721	6	30275											
TRMT61B	55006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29073074	29073074	+	Silent	SNP	T	T	C	rs377283695		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:29073074T>C	ENST00000306108.5	-	7	1448	c.1425A>G	c.(1423-1425)caA>caG	p.Q475Q	TRMT61B_ENST00000484060.1_5'Flank|SPDYA_ENST00000379579.4_3'UTR|SPDYA_ENST00000334056.5_3'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	475					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)	p.Q475Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CTCAGTTAAGTTGTGGTTTGA	0.289																																																1	Substitution - coding silent(1)	kidney(1)						T	,,	0,4406		0,0,2203	78	79	79		,1425,	-3	0	2		79	2,8596	2.2+/-6.3	0,2,4297	no	utr-3,coding-synonymous,utr-3	TRMT61B,SPDYA	NM_001142634.1,NM_017910.3,NM_182756.3	,,	0,2,6500	CC,CT,TT		0.0233,0.0,0.0154	,,	,475/478,	29073074	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	55006			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.1425A>G	2.37:g.29073074T>C			Q9H0Q9|Q9NWS7	Silent	SNP	ENST00000306108.5	37	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.738621	0.00681	0.0	2.33E-4	ENSG00000171103	ENST00000419999	.	.	.	5.54	-3.03	0.05429	.	.	.	.	.	T	0.28167	0.0695	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31779	-0.9931	4	.	.	.	.	6.9446	0.24512	0.0:0.3127:0.3252:0.3621	.	.	.	.	A	100	.	.	T	-	1	0	TRMT61B	28926578	0.000000	0.05858	0.015000	0.15790	0.131000	0.20780	-0.463000	0.06696	-0.687000	0.05162	0.533000	0.62120	ACT		0.289	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		C	29073074	T	C	29073074	2	2	559	1	0	0	0	0	0	0	0	1	16575	1722	60	3		3	TRMT61B	2	29073074	Silent	SNP	T	TCGA-CW-5581-01A-02D-1534-10	17153422	29073074	214126299	7	30276											
LTBP1	4052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	33622348	33622348	+	Splice_Site	SNP	C	C	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:33622348C>G	ENST00000404816.2	+	33	5336	c.4983C>G	c.(4981-4983)gtC>gtG	p.V1661V	LTBP1_ENST00000402934.1_Splice_Site_p.V1280V|LTBP1_ENST00000407925.1_Splice_Site_p.V1335V|LTBP1_ENST00000418533.2_Splice_Site_p.V1293V|LTBP1_ENST00000272273.5_Splice_Site_p.V559V|LTBP1_ENST00000404525.1_Splice_Site_p.V1282V|LTBP1_ENST00000390003.4_Splice_Site_p.V1336V|LTBP1_ENST00000354476.3_Splice_Site_p.V1662V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1661				V -> F (in Ref. 1; AAA61160). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.V1662V(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGACCTGTGTCGGTAAGAATG	0.433																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											189	162	171					2																	33622348		2203	4300	6503	SO:0001630	splice_region_variant	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4984+1C>G	2.37:g.33622348C>G			A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	CCDS33177.2																																																																																				0.433	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Silent	G	33622348	C	G	33622348	5	3	559	1	0	0	0	0	0	0	1	0	9075	898	31	4	5168	4	LTBP1	2	33622348	Splice_Site	SNP	C	TCGA-CW-5581-01A-02D-1534-10	4549274	33622348	209577025	8	30277											
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61450407	61450407	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:61450407G>T	ENST00000398571.2	-	63	7696	c.7620C>A	c.(7618-7620)gaC>gaA	p.D2540E	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2540					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D2540E(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGCTGCCATGTCAGTCTGTG	0.308																																																1	Substitution - Missense(1)	kidney(1)											139	130	133					2																	61450407		1848	4097	5945	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7620C>A	2.37:g.61450407G>T	ENSP00000381577:p.Asp2540Glu		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.517173|2.517173	0.44763|0.44763	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.10288|.	2.89|.	5.91|5.91	-1.16|-1.16	0.09678|0.09678	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60907|0.60907	0.2305|0.2305	L|L	0.61218|0.61218	1.895|1.895	0.49687|0.49687	D|D	0.99981|0.99981	D|.	0.56746|.	0.977|.	P|.	0.52909|.	0.713|.	T|T	0.59236|0.59236	-0.7492|-0.7492	10|5	0.48119|.	T|.	0.1|.	.|.	11.4375|11.4375	0.50076|0.50076	0.5488:0.0:0.4512:0.0|0.5488:0.0:0.4512:0.0	.|.	2540|.	Q70CQ2|.	UBP34_HUMAN|.	E|N	2388;2388;2540|300	ENSP00000381577:D2540E|.	ENSP00000263989:D2388E|.	D|H	-|-	3|1	2|0	USP34|USP34	61303911|61303911	0.999000|0.999000	0.42202|0.42202	0.727000|0.727000	0.30756|0.30756	0.809000|0.809000	0.45718|0.45718	0.520000|0.520000	0.22878|0.22878	-0.106000|-0.106000	0.12110|0.12110	-0.384000|-0.384000	0.06662|0.06662	GAC|CAT		0.308	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			T	61450407	G	T	61450407	3	4	559	1	0	0	0	0	1	0	0	0	17070	1368	48	4	3092	4	USP34	2	61450407	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10	27828059	61450407	181748966	9	30278											
RGPD2	729857	broad.mit.edu	37	2	88125182	88125182	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:88125182C>G	ENST00000398146.3	-	1	289	c.67G>C	c.(67-69)Gga>Cga	p.G23R	RGPD2_ENST00000420840.2_Intron|RGPD2_ENST00000327544.6_5'UTR			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	23					protein targeting to Golgi (GO:0000042)			p.G23R(1)		breast(1)|pancreas(1)	2						CTCACCTTTCCAGGCGACGGG	0.736																																																1	Substitution - Missense(1)	kidney(1)											5	15	12					2																	88125182		438	1209	1647	SO:0001583	missense	400966				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.67G>C	2.37:g.88125182C>G	ENSP00000381214:p.Gly23Arg		P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	ENST00000398146.3	37	CCDS42710.2	.	.	.	.	.	.	.	.	.	.	.	0	-2.830580	0.00070	.	.	ENSG00000185304	ENST00000398146	T	0.36157	1.27	1.6	0.627	0.17675	.	.	.	.	.	T	0.11793	0.0287	N	0.04508	-0.205	0.31530	N	0.661281	B	0.02656	0.0	B	0.01281	0.0	T	0.39683	-0.9602	9	0.02654	T	1	-2.4203	3.8381	0.08903	0.0:0.2709:0.453:0.2761	.	23	B4DYH0	.	R	23	ENSP00000381214:G23R	ENSP00000381214:G23R	G	-	1	0	RGPD2	87906297	0.981000	0.34729	0.060000	0.19600	0.004000	0.04260	0.570000	0.23653	-0.429000	0.07329	-3.214000	0.00053	GGA		0.736	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330534.2	NM_001078170		G	88125182	C	G	88125182	3	3	559	1	0	0	0	0	1	0	0	0	13292	603	21	4	10658	4	RGPD2	2	88125182	Missense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10	26674775	88125182	155074191	10	30279											
LYG1	129530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	99901199	99901199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr2:99901199C>A	ENST00000409448.1	-	7	734	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	LYG1_ENST00000308528.4_Nonsense_Mutation_p.E140*			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	140					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.E140*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CTCTGGATTTCTTTGATTCTA	0.498																																																1	Substitution - Nonsense(1)	kidney(1)											89	92	91					2																	99901199		2203	4300	6503	SO:0001587	stop_gained	129530			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.418G>T	2.37:g.99901199C>A	ENSP00000386923:p.Glu140*		Q53RV9	Nonsense_Mutation	SNP	ENST00000409448.1	37	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	C	35	5.523882	0.96431	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.55	4.55	0.56014	.	0.119180	0.37348	N	0.002121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.2931	12.6753	0.56891	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	.	E	-	1	0	LYG1	99267631	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.279000	0.43435	2.370000	0.80446	0.561000	0.74099	GAA		0.498	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		A	99901199	C	A	99901199	4	1	559	1	0	0	0	0	0	1	0	0	9106	922	32	4	174	4	LYG1	2	99901199	Nonsense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10	11776017	99901199	143298174	11	30280											
EPHA6	285220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	97198177	97198177	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr3:97198177G>C	ENST00000514100.1	+	6	461	c.219G>C	c.(217-219)gaG>gaC	p.E73D	EPHA6_ENST00000442602.2_Missense_Mutation_p.E47D|EPHA6_ENST00000502694.1_Missense_Mutation_p.E73D|EPHA6_ENST00000389672.5_Missense_Mutation_p.E681D	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	587	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.E681D(1)|p.E587D(1)|p.E73D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGTCAGAAGAGAAGAGAAGAA	0.343																																																3	Substitution - Missense(3)	kidney(3)											167	174	171					3																	97198177		1844	4092	5936	SO:0001583	missense	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.219G>C	3.37:g.97198177G>C	ENSP00000421711:p.Glu73Asp		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37		.	.	.	.	.	.	.	.	.	.	G	13.22	2.172978	0.38413	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.83	4.02	0.46733	.	.	.	.	.	T	0.08447	0.0210	L	0.29908	0.895	0.35371	D	0.789091	B;B;B;B	0.20368	0.044;0.0;0.01;0.009	B;B;B;B	0.14023	0.009;0.001;0.009;0.01	T	0.18461	-1.0336	9	0.26408	T	0.33	.	11.0589	0.47936	0.2006:0.0:0.7994:0.0	.	47;586;73;73	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	D	681;73;73;47	ENSP00000374323:E681D;ENSP00000421711:E73D;ENSP00000423950:E73D;ENSP00000403100:E47D	ENSP00000374323:E681D	E	+	3	2	EPHA6	98680867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.284000	0.33249	1.471000	0.48121	0.655000	0.94253	GAG		0.343	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		C	97198177	G	C	97198177	3	2	559	1	0	0	0	0	1	0	0	0	5173	933	33	4	2145	4	EPHA6	3	97198177	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10		97198177	100824253	12	30281											
CBLB	868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	105400639	105400639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr3:105400639delA	ENST00000264122.4	-	15	2546	c.2225delT	c.(2224-2226)atgfs	p.M742fs	CBLB_ENST00000407712.1_Start_Codon_Del|CBLB_ENST00000403724.1_Frame_Shift_Del_p.M742fs|CBLB_ENST00000394027.3_Frame_Shift_Del_p.M764fs|CBLB_ENST00000405772.1_Frame_Shift_Del_p.M742fs	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	742	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TCCATTCAGCATACAGTGACC	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													81	82	82					3																	105400639		2203	4300	6503	SO:0001589	frameshift_variant	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2225delT	3.37:g.105400639delA	ENSP00000264122:p.Met742fs		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Frame_Shift_Del	DEL	ENST00000264122.4	37	CCDS2948.1																																																																																				0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		-	105400639	A	-	105400639	7	5	559	1	0	1	0	1	0	0	0	0	2703	217	8	0	743	0	CBLB	3	105400639	Frame_Shift_Del	DEL	A	TCGA-CW-5581-01A-02D-1534-10	8202462	105400639	92621791	13	30282											
ATP6V1A	523	hgsc.bcm.edu;ucsc.edu	37	3	113528254	113528254	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr3:113528254delT	ENST00000273398.3	+	15	1942	c.1834delT	c.(1834-1836)ttcfs	p.F612fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.F579fs|ATP6V1A_ENST00000461496.1_3'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	612					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GCAGAATGCATTCCGTAGCCT	0.388																																																0													105	101	102					3																	113528254		2203	4300	6503	SO:0001589	frameshift_variant	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1834delT	3.37:g.113528254delT	ENSP00000273398:p.Phe612fs		B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Frame_Shift_Del	DEL	ENST00000273398.3	37	CCDS2976.1																																																																																				0.388	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		-	113528254	T	-	113528254	7	5	559	1	0	1	0	1	0	0	0	0	1177	1493	52	0	1888	0	ATP6V1A	3	113528254	Frame_Shift_Del	DEL	T	TCGA-CW-5581-01A-02D-1534-10	8127615	113528254	84494176	14	30283											
CCDC127	133957	hgsc.bcm.edu;ucsc.edu	37	5	205842	205847	+	In_Frame_Del	DEL	TTCTTT	TTCTTT	-	rs192206351		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	TTCTTT	TTCTTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr5:205842_205847delTTCTTT	ENST00000296824.3	-	3	480_485	c.348_353delAAAGAA	c.(346-354)gaaaagaag>gag	p.KK117del		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	117										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			TTCCAGAAGCTTCTTTTCTTCTACCA	0.485																																																0																																										SO:0001651	inframe_deletion	133957			AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.348_353delAAAGAA	5.37:g.205842_205847delTTCTTT	ENSP00000296824:p.Lys117_Lys118del			In_Frame_Del	DEL	ENST00000296824.3	37	CCDS3852.1																																																																																				0.485	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		-	205847	TTCTTT	-	205842	7	5	559	1	0	1	0	1	0	0	0	0	2765	1609	56	0	433	0	CCDC127	5	205842	In_Frame_Del	DEL	TTCTTT	TCGA-CW-5581-01A-02D-1534-10		205842	180709418	15	30284											
YTHDC2	64848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112902905	112902905	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr5:112902905G>T	ENST00000161863.4	+	22	3172	c.2959G>T	c.(2959-2961)Gac>Tac	p.D987Y		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	987					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.D987Y(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGTCCACGTGGACAGAGAGAA	0.433																																																1	Substitution - Missense(1)	kidney(1)											148	128	135					5																	112902905		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2959G>T	5.37:g.112902905G>T	ENSP00000161863:p.Asp987Tyr		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125081	0.77436	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02944	4.1	5.58	5.58	0.84498	Domain of unknown function DUF1605 (1);	0.057586	0.85682	D	0.000000	T	0.14700	0.0355	M	0.80183	2.485	0.80722	D	1	P	0.51240	0.943	P	0.57009	0.811	T	0.00062	-1.2158	10	0.59425	D	0.04	.	19.5543	0.95335	0.0:0.0:1.0:0.0	.	987	Q9H6S0	YTDC2_HUMAN	Y	987;897	ENSP00000161863:D987Y	ENSP00000161863:D987Y	D	+	1	0	YTHDC2	112930804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.104000	0.71498	2.617000	0.88574	0.655000	0.94253	GAC		0.433	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		T	112902905	G	T	112902905	3	4	559	1	0	0	0	0	1	0	0	0	17502	1174	41	4	3045	4	YTHDC2	5	112902905	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10	112697063	112902905	68012355	16	30285											
RAPGEF6	51735	broad.mit.edu;ucsc.edu	37	5	130825242	130825242	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr5:130825242A>C	ENST00000509018.1	-	15	2042	c.1837T>G	c.(1837-1839)Ttt>Gtt	p.F613V	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.F613V|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.F613V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.F613V|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.F613V|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.F663V|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.F613V|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.F328V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	613	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143, ECO:0000305}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.F613V(3)|p.F663V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACTCACCAAAAATGTTGGTC	0.299																																					Melanoma(168;435 1955 13113 13877 23213)											4	Substitution - Missense(4)	kidney(4)											64	66	66					5																	130825242		2202	4290	6492	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1837T>G	5.37:g.130825242A>C	ENSP00000421684:p.Phe613Val		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867098	0.72065	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.17370	2.37;2.37;2.37;2.37;2.37;2.37;2.28;2.37	5.73	5.73	0.89815	PDZ/DHR/GLGF (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	L	0.42245	1.32	0.80722	D	1	P;P;P;B;P;P;B	0.41524	0.638;0.638;0.575;0.439;0.638;0.753;0.273	B;B;B;B;B;B;B	0.43052	0.23;0.313;0.312;0.165;0.313;0.406;0.165	T	0.00839	-1.1545	10	0.66056	D	0.02	.	16.0152	0.80434	1.0:0.0:0.0:0.0	.	613;613;613;328;663;613;613	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	V	613;613;613;613;613;328;613;613;663	ENSP00000421684:F613V;ENSP00000309298:F613V;ENSP00000426081:F613V;ENSP00000296859:F613V;ENSP00000426910:F328V;ENSP00000311419:F613V;ENSP00000425389:F613V;ENSP00000426948:F663V	ENSP00000426948:F663V	F	-	1	0	RAPGEF6;FNIP1	130853141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.180000	0.69256	0.533000	0.62120	TTT		0.299	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		C	130825242	A	C	130825242	3	2	559	1	0	0	0	0	1	0	0	0	13054	14	1	5	3510	5	RAPGEF6	5	130825242	Missense_Mutation	SNP	A	TCGA-CW-5581-01A-02D-1534-10	17922337	130825242	50090018	17	30286											
PCDH1	5097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141242928	141242928	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr5:141242928T>A	ENST00000394536.3	-	3	3107	c.2968A>T	c.(2968-2970)Aag>Tag	p.K990*	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Nonsense_Mutation_p.K978*|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000287008.3_Nonsense_Mutation_p.K990*|PCDH1_ENST00000536585.1_Nonsense_Mutation_p.K968*	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	990					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K990*(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACCTGGTGCTTCTTGGAGGCT	0.627																																					Ovarian(132;1609 1739 4190 14731 45037)											1	Substitution - Nonsense(1)	kidney(1)											71	63	65					5																	141242928		2203	4300	6503	SO:0001587	stop_gained	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2968A>T	5.37:g.141242928T>A	ENSP00000378043:p.Lys990*		Q8IUP2	Nonsense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	t	39	7.381287	0.98248	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	.	.	.	4.59	4.59	0.56863	.	0.000000	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9639	0.53023	0.0:0.0:0.0:1.0	.	.	.	.	X	990;990;978;1001;968	.	ENSP00000287008:K990X	K	-	1	0	PCDH1	141223112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.509000	0.81698	1.932000	0.55993	0.375000	0.23000	AAG		0.627	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		A	141242928	T	A	141242928	4	1	559	1	0	0	0	0	0	1	0	0	11508	1792	62	5	841	5	PCDH1	5	141242928	Nonsense_Mutation	SNP	T	TCGA-CW-5581-01A-02D-1534-10	10417686	141242928	39672332	18	30287											
NHP2	55651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	177576774	177576774	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr5:177576774C>G	ENST00000274606.3	-	4	551	c.402G>C	c.(400-402)gaG>gaC	p.E134D	RMND5B_ENST00000515098.1_3'UTR|NHP2_ENST00000314397.4_3'UTR	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	134					rRNA pseudouridine synthesis (GO:0031118)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.E134D(1)		endometrium(1)|kidney(1)|ovary(2)	4						CCTCCTGGTACTCCTCATGGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											59	65	63					5																	177576774		2203	4300	6503	SO:0001583	missense	55651			AF161404	CCDS4432.1, CCDS34308.1	5q35.3	2014-09-17	2012-12-10	2008-10-13	ENSG00000145912	ENSG00000145912			14377	protein-coding gene	gene with protein product		606470	"nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)", "NHP2 ribonucleoprotein homolog (yeast)"	NOLA2		11074001	Standard	NM_017838		Approved	FLJ20479	uc003mir.2	Q9NX24	OTTHUMG00000130886	ENST00000274606.3:c.402G>C	5.37:g.177576774C>G	ENSP00000274606:p.Glu134Asp		A6NKY8|Q9P095	Missense_Mutation	SNP	ENST00000274606.3	37	CCDS4432.1	.	.	.	.	.	.	.	.	.	.	c	8.276	0.814404	0.16607	.	.	ENSG00000145912	ENST00000274606	T	0.56275	0.47	5.55	-11.1	0.00147	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.306471	0.39210	N	0.001440	T	0.09992	0.0245	N	0.00500	-1.43	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50533	-0.8817	10	0.02654	T	1	-26.2529	8.1152	0.30940	0.0785:0.5408:0.2671:0.1136	.	134	Q9NX24	NHP2_HUMAN	D	134	ENSP00000274606:E134D	ENSP00000274606:E134D	E	-	3	2	NHP2	177509380	0.000000	0.05858	0.484000	0.27391	0.961000	0.63080	-3.006000	0.00650	-2.541000	0.00485	-0.345000	0.07892	GAG		0.602	NHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253471.1	NM_017838		G	177576774	C	G	177576774	3	3	559	1	0	0	0	0	1	0	0	0	10411	564	20	4	63	4	NHP2	5	177576774	Missense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10	36333846	177576774	3338486	19	30288											
ERVFRDE1	405754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	11105212	11105212	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:11105212C>A	ENST00000472091.1	-	2	707	c.332G>T	c.(331-333)gGa>gTa	p.G111V	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.G111V	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	111					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.G111V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						AAAGATGGGTCCGAAAATGGG	0.423																																																1	Substitution - Missense(1)	kidney(1)											114	117	116					6																	11105212		2203	4300	6503	SO:0001583	missense	0			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.332G>T	6.37:g.11105212C>A	ENSP00000420174:p.Gly111Val			Missense_Mutation	SNP	ENST00000472091.1	37	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816087	0.32145	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.59364	0.27;0.27	0.235	0.235	0.15431	.	.	.	.	.	T	0.48390	0.1497	L	0.32530	0.975	0.30540	N	0.766519	D	0.76494	0.999	D	0.87578	0.998	T	0.37596	-0.9699	8	0.87932	D	0	.	.	.	.	.	111	P60508	EFRD1_HUMAN	V	111	ENSP00000420174:G111V;ENSP00000444461:G111V	ENSP00000420174:G111V	G	-	2	0	ERVFRD-1	11213198	0.463000	0.25799	0.311000	0.25182	0.316000	0.28119	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	GGA		0.423	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		A	11105212	C	A	11105212	3	1	559	1	0	0	0	0	1	0	0	0	5248	855	30	4	1288	4	ERVFRDE1	6	11105212	Missense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10		11105212	160009855	20	30289											
MYLIP	29116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	16146960	16146960	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:16146960T>C	ENST00000356840.3	+	7	1514	c.1316T>C	c.(1315-1317)cTt>cCt	p.L439P	U3_ENST00000515984.1_RNA|MYLIP_ENST00000349606.4_Missense_Mutation_p.L258P	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	439					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L439P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CACACCAGTCTTCTCAATCTG	0.443																																																1	Substitution - Missense(1)	kidney(1)											203	155	171					6																	16146960		2203	4300	6503	SO:0001583	missense	29116			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1316T>C	6.37:g.16146960T>C	ENSP00000349298:p.Leu439Pro		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.719666	0.89205	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	D;T	0.83673	-1.75;0.87	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.85771	0.5774	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.88104	0.2821	10	0.87932	D	0	.	15.4413	0.75184	0.0:0.0:0.0:1.0	.	439	Q8WY64	MYLIP_HUMAN	P	439;258	ENSP00000349298:L439P;ENSP00000008686:L258P	ENSP00000008686:L258P	L	+	2	0	MYLIP	16254939	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	7.900000	0.87376	2.039000	0.60335	0.482000	0.46254	CTT		0.443	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		C	16146960	T	C	16146960	3	2	559	1	0	0	0	0	1	0	0	0	10057	1609	56	3	1342	3	MYLIP	6	16146960	Missense_Mutation	SNP	T	TCGA-CW-5581-01A-02D-1534-10	5041748	16146960	154968107	21	30290											
KIAA0319	9856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24596226	24596226	+	Missense_Mutation	SNP	C	C	T	rs377674724		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:24596226C>T	ENST00000378214.3	-	3	1200	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A217T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	226					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A226T(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTTTTGGGGCAGGGGTTGAA	0.562																																																1	Substitution - Missense(1)	kidney(1)											55	51	53					6																	24596226		2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.676G>A	6.37:g.24596226C>T	ENSP00000367459:p.Ala226Thr		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	6.866	0.529049	0.13127	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3	4.09	-0.0303	0.13915	.	1.262540	0.05663	N	0.587336	T	0.01092	0.0036	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.022	B;B;B	0.18561	0.022;0.015;0.01	T	0.48736	-0.9009	10	0.30078	T	0.28	-1.0065	2.1653	0.03835	0.1341:0.4937:0.1308:0.2414	.	226;217;226	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	T	226;217;181;226;226	ENSP00000439700:A226T;ENSP00000442403:A217T;ENSP00000401086:A181T;ENSP00000367459:A226T;ENSP00000437656:A226T	ENSP00000367459:A226T	A	-	1	0	KIAA0319	24704205	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.115000	0.10741	-0.246000	0.09611	-1.077000	0.02231	GCC		0.562	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		T	24596226	C	T	24596226	3	4	559	1	0	0	0	0	1	0	0	0	8170	710	25	2	2618	2	KIAA0319	6	24596226	Missense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10	8449266	24596226	146518841	22	30291											
ASCC3	10973	hgsc.bcm.edu;ucsc.edu	37	6	101049749	101049749	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:101049749delT	ENST00000369162.2	-	34	5584	c.5240delA	c.(5239-5241)aagfs	p.K1747fs		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1747					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGCATCTTGCTTAGATGTAAT	0.398																																																0													151	146	148					6																	101049749		2203	4300	6503	SO:0001589	frameshift_variant	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5240delA	6.37:g.101049749delT	ENSP00000358159:p.Lys1747fs		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Frame_Shift_Del	DEL	ENST00000369162.2	37	CCDS5046.1																																																																																				0.398	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		-	101049749	T	-	101049749	7	5	559	1	0	1	0	1	0	0	0	0	1033	1609	56	0	1404	0	ASCC3	6	101049749	Frame_Shift_Del	DEL	T	TCGA-CW-5581-01A-02D-1534-10	76453523	101049749	70065318	23	30292											
HIVEP2	3097	broad.mit.edu;ucsc.edu	37	6	143081503	143081503	+	Silent	SNP	A	A	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr6:143081503A>G	ENST00000367604.1	-	8	6561	c.5922T>C	c.(5920-5922)acT>acC	p.T1974T	HIVEP2_ENST00000367603.2_Silent_p.T1974T|HIVEP2_ENST00000012134.2_Silent_p.T1974T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1974					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T1974T(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TACTTGGCAAAGTAACCAAAT	0.473																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											1	Substitution - coding silent(1)	kidney(1)											171	155	160					6																	143081503		1900	4123	6023	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5922T>C	6.37:g.143081503A>G			Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.473	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			G	143081503	A	G	143081503	2	3	559	1	0	0	0	0	0	0	0	1	7189	59	3	3		3	HIVEP2	6	143081503	Silent	SNP	A	TCGA-CW-5581-01A-02D-1534-10	42031754	143081503	28033564	24	30293											
MGAM	8972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	141752123	141752123	+	Silent	SNP	C	C	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr7:141752123C>A	ENST00000549489.2	+	25	2930	c.2835C>A	c.(2833-2835)ctC>ctA	p.L945L	MGAM_ENST00000475668.2_Silent_p.L945L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	945					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.L945L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGATCTTCTCCTGGGAGAAG	0.403																																																3	Substitution - coding silent(3)	kidney(3)											57	51	53					7																	141752123		1865	4101	5966	SO:0001819	synonymous_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2835C>A	7.37:g.141752123C>A			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																				0.403	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			A	141752123	C	A	141752123	2	1	559	1	0	0	0	0	0	0	0	1	9543	842	30	4		4	MGAM	7	141752123	Silent	SNP	C	TCGA-CW-5581-01A-02D-1534-10		141752123	17386540	25	30294											
RTKN2	219790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	63958010	63958010	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:63958010T>G	ENST00000373789.3	-	12	1583	c.1487A>C	c.(1486-1488)gAt>gCt	p.D496A	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	496					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.D496A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CCCTTTTTCATCATGTAATGG	0.418																																																1	Substitution - Missense(1)	kidney(1)											191	190	190					10																	63958010		2203	4300	6503	SO:0001583	missense	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1487A>C	10.37:g.63958010T>G	ENSP00000362894:p.Asp496Ala		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.522989	0.27211	.	.	ENSG00000182010	ENST00000373789	T	0.32272	1.46	5.61	5.61	0.85477	.	0.369448	0.32314	N	0.006263	T	0.28366	0.0701	L	0.54323	1.7	0.80722	D	1	P	0.35745	0.518	B	0.34590	0.186	T	0.06197	-1.0840	10	0.07813	T	0.8	-10.4234	15.8076	0.78527	0.0:0.0:0.0:1.0	.	496	Q8IZC4	RTKN2_HUMAN	A	496	ENSP00000362894:D496A	ENSP00000362894:D496A	D	-	2	0	RTKN2	63628016	0.034000	0.19679	0.994000	0.49952	0.809000	0.45718	1.254000	0.32897	2.147000	0.66899	0.533000	0.62120	GAT		0.418	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		G	63958010	T	G	63958010	3	3	559	1	0	0	0	0	1	0	0	0	13729	1435	50	5	346	5	RTKN2	10	63958010	Missense_Mutation	SNP	T	TCGA-CW-5581-01A-02D-1534-10		63958010	71576737	26	30295											
JMJD1C	221037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	64968907	64968907	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:64968907G>C	ENST00000399262.2	-	9	3001	c.2783C>G	c.(2782-2784)tCc>tGc	p.S928C	JMJD1C_ENST00000542921.1_Missense_Mutation_p.S746C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S709C|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S709C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	928					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.S928C(1)|p.S709C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTCTGCACTGGAAGGTCTGAC	0.448																																																2	Substitution - Missense(2)	kidney(2)											119	111	113					10																	64968907		1896	4115	6011	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2783C>G	10.37:g.64968907G>C	ENSP00000382204:p.Ser928Cys		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098222	0.94197	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.03	6.03	0.97812	.	0.108992	0.64402	D	0.000004	T	0.70605	0.3243	L	0.60455	1.87	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	P;D	0.66196	0.897;0.942	T	0.70547	-0.4842	10	0.87932	D	0	-6.9312	20.5666	0.99351	0.0:0.0:1.0:0.0	.	928;746	Q15652;A0T124	JHD2C_HUMAN;.	C	928;709;709;746	ENSP00000382204:S928C;ENSP00000384990:S709C;ENSP00000382195:S709C;ENSP00000444682:S746C	ENSP00000382195:S709C	S	-	2	0	JMJD1C	64638913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.850000	0.92190	2.854000	0.98071	0.655000	0.94253	TCC		0.448	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		C	64968907	G	C	64968907	3	2	559	1	0	0	0	0	1	0	0	0	7952	1174	41	4	4911	4	JMJD1C	10	64968907	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10	1010897	64968907	70565840	27	30296											
UNC5B	219699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73050863	73050863	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:73050863C>T	ENST00000335350.6	+	9	1707	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P420S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	431					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.P431S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GACGGCAAGGCCCAGTAAGAA	0.602																																																1	Substitution - Missense(1)	kidney(1)											150	144	146					10																	73050863		2203	4300	6503	SO:0001583	missense	219699			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1291C>T	10.37:g.73050863C>T	ENSP00000334329:p.Pro431Ser		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966312	0.34659	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.45276	0.99;0.9	5.39	5.39	0.77823	.	0.108239	0.64402	D	0.000004	T	0.32164	0.0820	L	0.27053	0.805	0.53688	D	0.999978	P;B	0.34800	0.469;0.339	B;B	0.33121	0.158;0.11	T	0.06844	-1.0804	10	0.16420	T	0.52	-32.2971	19.1392	0.93441	0.0:1.0:0.0:0.0	.	420;431	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	S	431;420	ENSP00000334329:P431S;ENSP00000362288:P420S	ENSP00000334329:P431S	P	+	1	0	UNC5B	72720869	1.000000	0.71417	0.857000	0.33713	0.004000	0.04260	7.797000	0.85911	2.535000	0.85469	0.655000	0.94253	CCC		0.602	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		T	73050863	C	T	73050863	3	4	559	1	0	0	0	0	1	0	0	0	16997	739	26	2	1325	2	UNC5B	10	73050863	Missense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10	8081956	73050863	62483884	28	30297											
FAS	355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	90762874	90762874	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:90762874C>T	ENST00000355279.2	+	2	119	c.119C>T	c.(118-120)aCt>aTt	p.T40I	FAS_ENST00000352159.4_Missense_Mutation_p.T40I|FAS_ENST00000355740.2_Missense_Mutation_p.T40I|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Missense_Mutation_p.T40I			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T40I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TTGAGGAAGACTGTTACTACA	0.428																																																1	Substitution - Missense(1)	kidney(1)											140	127	131					10																	90762874		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.119C>T	10.37:g.90762874C>T	ENSP00000347426:p.Thr40Ile		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000355279.2	37	CCDS7395.1	.	.	.	.	.	.	.	.	.	.	C	3.340	-0.134786	0.06711	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000352159;ENST00000357339;ENST00000355279;ENST00000371875	D;T;D;T	0.93247	-3.19;-0.76;-2.19;-0.68	3.1	-0.634	0.11516	.	.	.	.	.	D	0.82944	0.5147	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.13145	0.007;0.0;0.001;0.0	B;B;B;B	0.12156	0.007;0.001;0.002;0.001	T	0.68424	-0.5412	9	0.34782	T	0.22	-3.9294	1.1957	0.01874	0.3136:0.3795:0.1227:0.1841	.	40;40;40;40	P25445-4;P25445-6;Q5T9P3;P25445	.;.;.;TNR6_HUMAN	I	67;40;40;40;40;40	ENSP00000347979:T40I;ENSP00000345601:T40I;ENSP00000349896:T40I;ENSP00000347426:T40I	ENSP00000345601:T40I	T	+	2	0	FAS	90752854	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.459000	0.06728	-0.414000	0.07495	-1.786000	0.00637	ACT		0.428	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			T	90762874	C	T	90762874	3	4	559	1	0	0	0	0	1	0	0	0	5683	565	20	2	125	2	FAS	10	90762874	Missense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10	17712011	90762874	44771873	29	30298											
PPRC1	23082	broad.mit.edu	37	10	103907139	103907139	+	Silent	SNP	A	A	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:103907139A>C	ENST00000278070.2	+	9	4429	c.4390A>C	c.(4390-4392)Agg>Cgg	p.R1464R	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Silent_p.R431R|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1464	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R1464R(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCACACAAGAGGTGGCGAAG	0.527																																																1	Substitution - coding silent(1)	kidney(1)											80	68	72					10																	103907139		2203	4300	6503	SO:0001819	synonymous_variant	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4390A>C	10.37:g.103907139A>C			Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	CCDS7529.1																																																																																				0.527	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		C	103907139	A	C	103907139	2	2	559	1	0	0	0	0	0	0	0	1	12415	295	11	5		5	PPRC1	10	103907139	Silent	SNP	A	TCGA-CW-5581-01A-02D-1534-10	13144265	103907139	31627608	30	30299											
CYP17A1	1586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	104596868	104596868	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr10:104596868T>A	ENST00000369887.3	-	1	422	c.251A>T	c.(250-252)gAg>gTg	p.E84V	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	84					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)	p.E84V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	AATAAGCACCTCCTTGGCCAG	0.532																																																1	Substitution - Missense(1)	kidney(1)											109	91	97					10																	104596868		2203	4300	6503	SO:0001583	missense	1586			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.251A>T	10.37:g.104596868T>A	ENSP00000358903:p.Glu84Val		Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	t	22.8	4.339667	0.81911	.	.	ENSG00000148795	ENST00000369887	T	0.71698	-0.59	5.36	5.36	0.76844	.	0.048729	0.85682	D	0.000000	D	0.86772	0.6013	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89634	0.3857	10	0.87932	D	0	.	15.3105	0.74028	0.0:0.0:0.0:1.0	.	84	P05093	CP17A_HUMAN	V	84	ENSP00000358903:E84V	ENSP00000358903:E84V	E	-	2	0	CYP17A1	104586858	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	7.401000	0.79962	2.154000	0.67381	0.375000	0.23000	GAG		0.532	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		A	104596868	T	A	104596868	3	1	559	1	0	0	0	0	1	0	0	0	4149	1551	54	5	1307	5	CYP17A1	10	104596868	Missense_Mutation	SNP	T	TCGA-CW-5581-01A-02D-1534-10	689729	104596868	30937879	31	30300											
MUC5B	727897	hgsc.bcm.edu	37	11	1272671	1272671	+	Missense_Mutation	SNP	T	T	C	rs200249076		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr11:1272671T>C	ENST00000529681.1	+	31	14619	c.14561T>C	c.(14560-14562)aTa>aCa	p.I4854T	MUC5B_ENST00000447027.1_Missense_Mutation_p.I4857T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4854	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGAGCACTATAGCCACCGTG	0.632																																																0													102	124	116					11																	1272671		2153	4229	6382	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14561T>C	11.37:g.1272671T>C	ENSP00000436812:p.Ile4854Thr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078560	0.07141	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19532	2.14;2.33	2.32	-1.96	0.07525	.	.	.	.	.	T	0.06096	0.0158	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30504	-0.9976	9	0.87932	D	0	.	3.5138	0.07717	0.1434:0.548:0.1775:0.1311	.	5176;4857	A7Y9J9;E9PBJ0	.;.	T	4854;4857;4798;4553	ENSP00000436812:I4854T;ENSP00000415793:I4857T	ENSP00000343037:I4798T	I	+	2	0	MUC5B	1229247	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.476000	0.00986	-0.624000	0.05611	-1.386000	0.01163	ATA		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		C	1272671	T	C	1272671	3	2	559	1	0	0	0	0	1	0	0	0	9981	1406	49	3	14692	3	MUC5B	11	1272671	Missense_Mutation	SNP	T	TCGA-CW-5581-01A-02D-1534-10		1272671	133733845	32	30301											
CD82	3732	broad.mit.edu	37	11	44639740	44639740	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr11:44639740A>G	ENST00000227155.4	+	8	715	c.467A>G	c.(466-468)tAc>tGc	p.Y156C	CD82_ENST00000342935.3_Missense_Mutation_p.Y131C|CD82_ENST00000530931.1_3'UTR	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	156						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.Y156C(1)		large_intestine(1)|ovary(1)	2						GTCAGCTTCTACAACTGGACA	0.602																																																1	Substitution - Missense(1)	kidney(1)											60	52	55					11																	44639740		2203	4299	6502	SO:0001583	missense	3732			U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"CD molecules", "Tetraspanins"	6210	protein-coding gene	gene with protein product	"suppression of tumorigenicity 6", "R2 leukocyte antigen"	600623	"kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))", "CD82 antigen"	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.467A>G	11.37:g.44639740A>G	ENSP00000227155:p.Tyr156Cys		D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Missense_Mutation	SNP	ENST00000227155.4	37	CCDS7909.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324222	0.41197	.	.	ENSG00000085117	ENST00000227155;ENST00000342935;ENST00000530601	T;T;T	0.79141	-1.24;-1.24;-1.24	4.69	-8.84	0.00803	Tetraspanin, EC2 domain (1);	1.872410	0.02177	N	0.060177	T	0.78444	0.4284	L	0.57536	1.79	0.09310	N	0.999998	P;D	0.58970	0.901;0.984	P;P	0.56343	0.796;0.748	T	0.75764	-0.3203	10	0.56958	D	0.05	.	5.6298	0.17504	0.2039:0.3479:0.0:0.4482	.	131;156	E9PC70;P27701	.;CD82_HUMAN	C	156;131;137	ENSP00000227155:Y156C;ENSP00000339686:Y131C;ENSP00000433788:Y137C	ENSP00000227155:Y156C	Y	+	2	0	CD82	44596316	0.000000	0.05858	0.020000	0.16555	0.619000	0.37552	-0.678000	0.05209	-1.067000	0.03160	0.459000	0.35465	TAC		0.602	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			G	44639740	A	G	44639740	3	3	559	1	0	0	0	0	1	0	0	0	3042	391	14	3	489	3	CD82	11	44639740	Missense_Mutation	SNP	A	TCGA-CW-5581-01A-02D-1534-10	43367069	44639740	90366776	33	30302											
OR5L1	219437	broad.mit.edu;hgsc.bcm.edu	37	11	55579578	55579578	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr11:55579578G>T	ENST00000333973.2	+	1	725	c.636G>T	c.(634-636)atG>atT	p.M212I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M212I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTACCATCATGATCATCCTCA	0.502																																																1	Substitution - Missense(1)	kidney(1)											246	197	214					11																	55579578		2200	4296	6496	SO:0001583	missense	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.636G>T	11.37:g.55579578G>T	ENSP00000335529:p.Met212Ile		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	10.87	1.471917	0.26423	.	.	ENSG00000186117	ENST00000333973	T	0.32988	1.43	4.12	-8.23	0.01033	GPCR, rhodopsin-like superfamily (1);	1.509250	0.03868	N	0.275104	T	0.08714	0.0216	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31166	-0.9953	10	0.49607	T	0.09	0.007	4.7613	0.13110	0.0721:0.209:0.189:0.5299	.	212	Q8NGL2	OR5L1_HUMAN	I	212	ENSP00000335529:M212I	ENSP00000335529:M212I	M	+	3	0	OR5L1	55336154	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-2.057000	0.01395	-1.428000	0.01989	0.428000	0.28381	ATG		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		T	55579578	G	T	55579578	3	4	559	1	0	0	0	0	1	0	0	0	11172	1290	45	4	638	4	OR5L1	11	55579578	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10	10939838	55579578	79426938	34	30303											
OR5AR1	219493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56432011	56432011	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr11:56432011A>T	ENST00000302969.2	+	1	874	c.850A>T	c.(850-852)Atg>Ttg	p.M284L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M284L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TATCATCCCCATGTTAAATCC	0.408																																																1	Substitution - Missense(1)	kidney(1)											68	66	66					11																	56432011		2201	4296	6497	SO:0001583	missense	219493			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.850A>T	11.37:g.56432011A>T	ENSP00000302639:p.Met284Leu		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.658029	0.29425	.	.	ENSG00000172459	ENST00000302969	T	0.36699	1.24	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.32376	0.0827	L	0.58810	1.83	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.29912	-0.9996	10	0.62326	D	0.03	.	6.4353	0.21819	0.7589:0.1588:0.0823:0.0	.	284	Q8NGP9	O5AR1_HUMAN	L	284	ENSP00000302639:M284L	ENSP00000302639:M284L	M	+	1	0	OR5AR1	56188587	0.001000	0.12720	1.000000	0.80357	0.868000	0.49771	0.510000	0.22723	2.128000	0.65567	0.467000	0.42956	ATG		0.408	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		T	56432011	A	T	56432011	3	4	559	1	0	0	0	0	1	0	0	0	11147	217	8	5	852	5	OR5AR1	11	56432011	Missense_Mutation	SNP	A	TCGA-CW-5581-01A-02D-1534-10	852433	56432011	78574505	35	30304											
SAPS3	55291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68315579	68315579	+	Silent	SNP	T	T	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr11:68315579T>A	ENST00000393800.2	+	5	713	c.459T>A	c.(457-459)atT>atA	p.I153I	PPP6R3_ENST00000393801.3_Silent_p.I153I|PPP6R3_ENST00000524845.1_Silent_p.I153I|PPP6R3_ENST00000265636.5_Silent_p.I153I|PPP6R3_ENST00000534534.1_Silent_p.I62I|PPP6R3_ENST00000265637.4_Silent_p.I153I|PPP6R3_ENST00000393799.2_Silent_p.I153I|PPP6R3_ENST00000527403.2_Silent_p.I153I|PPP6R3_ENST00000529710.1_Silent_p.I153I|PPP6R3_ENST00000524904.1_Silent_p.I153I	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	153					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.I153I(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAGACCTTATTATAAAGCACA	0.388																																																2	Substitution - coding silent(2)	kidney(2)											126	121	123					11																	68315579		2200	4294	6494	SO:0001819	synonymous_variant	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.459T>A	11.37:g.68315579T>A			Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	CCDS53672.1																																																																																				0.388	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		A	68315579	T	A	68315579	2	1	559	1	0	0	0	0	0	0	0	1	13844	1742	61	5		5	SAPS3	11	68315579	Silent	SNP	T	TCGA-CW-5581-01A-02D-1534-10	11883568	68315579	66690937	36	30305											
TAS2R13	50838	hgsc.bcm.edu;ucsc.edu	37	12	11061401	11061401	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr12:11061401delT	ENST00000390677.2	-	1	760	c.497delA	c.(496-498)aatfs	p.N166fs	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	166					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CATACTGAAATTCCAAGTTGT	0.353																																																0													94	98	96					12																	11061401		2203	4300	6503	SO:0001589	frameshift_variant	50838			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.497delA	12.37:g.11061401delT	ENSP00000375095:p.Asn166fs		Q4G0I5|Q502V8|Q645X2	Frame_Shift_Del	DEL	ENST00000390677.2	37	CCDS8635.1																																																																																				0.353	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			-	11061401	T	-	11061401	7	5	559	1	0	1	0	1	0	0	0	0	15572	1493	52	0	418	0	TAS2R13	12	11061401	Frame_Shift_Del	DEL	T	TCGA-CW-5581-01A-02D-1534-10		11061401	122790494	37	30306											
KCNH3	23416	hgsc.bcm.edu;ucsc.edu	37	12	49935453	49935453	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr12:49935453delG	ENST00000257981.6	+	3	611	c.351delG	c.(349-351)aagfs	p.K117fs	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	117	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TACCCATAAAGAATGAGAAAG	0.542																																																0													181	193	189					12																	49935453		2203	4300	6503	SO:0001589	frameshift_variant	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.351delG	12.37:g.49935453delG	ENSP00000257981:p.Lys117fs		Q9UQ06	Frame_Shift_Del	DEL	ENST00000257981.6	37	CCDS8786.1																																																																																				0.542	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		-	49935453	G	-	49935453	7	5	559	1	0	1	0	1	0	0	0	0	8035	933	33	0	361	0	KCNH3	12	49935453	Frame_Shift_Del	DEL	G	TCGA-CW-5581-01A-02D-1534-10	38874052	49935453	83916442	38	30307											
DENR	8562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123238330	123238330	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr12:123238330C>G	ENST00000280557.6	+	2	268	c.82C>G	c.(82-84)Cca>Gca	p.P28A	DENR_ENST00000455982.2_Missense_Mutation_p.P28A	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein	28					formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)		translation initiation factor activity (GO:0003743)	p.P28A(1)		kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		TGCCGATTACCCACTTCGAGT	0.433																																																1	Substitution - Missense(1)	kidney(1)											130	129	129					12																	123238330		1931	4153	6084	SO:0001583	missense	8562			AF038554	CCDS45003.1	12q24.31	1999-06-17			ENSG00000139726	ENSG00000139726			2769	protein-coding gene	gene with protein product		604550				9628587	Standard	NM_003677		Approved	DRP, DRP1, SMAP-3	uc001uda.3	O43583	OTTHUMG00000168844	ENST00000280557.6:c.82C>G	12.37:g.123238330C>G	ENSP00000280557:p.Pro28Ala		Q9H3U6|Q9UKZ0	Missense_Mutation	SNP	ENST00000280557.6	37	CCDS45003.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616677	0.87359	.	.	ENSG00000139726	ENST00000280557;ENST00000455982	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.83940	0.5363	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86308	0.1684	9	0.59425	D	0.04	-11.7116	18.0502	0.89345	0.0:1.0:0.0:0.0	.	28;28	F8VVL1;O43583	.;DENR_HUMAN	A	28	.	ENSP00000280557:P28A	P	+	1	0	DENR	121804283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.807000	0.62576	2.348000	0.79779	0.491000	0.48974	CCA		0.433	DENR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401336.1	NM_003677		G	123238330	C	G	123238330	3	3	559	1	0	0	0	0	1	0	0	0	4440	623	22	4	84	4	DENR	12	123238330	Missense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10	73302877	123238330	10613565	39	30308											
SLITRK6	84189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	86369560	86369560	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr13:86369560G>T	ENST00000400286.2	-	2	1682	c.1084C>A	c.(1084-1086)Ccg>Acg	p.P362T		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	362					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.P362T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGATTTTGCGGAGGAGGTCTC	0.413																																																1	Substitution - Missense(1)	kidney(1)											96	87	90					13																	86369560		1855	4107	5962	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1084C>A	13.37:g.86369560G>T	ENSP00000383143:p.Pro362Thr		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125085	0.56721	.	.	ENSG00000184564	ENST00000400286	T	0.61627	0.09	5.86	5.86	0.93980	.	0.128151	0.53938	D	0.000044	T	0.77123	0.4084	M	0.81497	2.545	0.58432	D	0.999994	D	0.76494	0.999	D	0.64144	0.922	T	0.79337	-0.1845	10	0.87932	D	0	-15.6779	18.7589	0.91842	0.0:0.0:1.0:0.0	.	362	Q9H5Y7	SLIK6_HUMAN	T	362	ENSP00000383143:P362T	ENSP00000383143:P362T	P	-	1	0	SLITRK6	85267561	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.520000	0.67080	2.780000	0.95670	0.585000	0.79938	CCG		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		T	86369560	G	T	86369560	3	4	559	1	0	0	0	0	1	0	0	0	14753	1174	41	4	1445	4	SLITRK6	13	86369560	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10		86369560	28800318	40	30309											
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Splice_Site	SNP	C	C	T	rs537144117	byFrequency	TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061															4	Substitution - Missense(4)	central_nervous_system(2)|lung(1)|kidney(1)																																								SO:0001630	splice_region_variant	10901			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T			B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	T	24424420	C	T	24424420	5	4	559	1	0	0	0	0	0	0	1	0	4494	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-CW-5581-01A-02D-1534-10		24424420	82925120	41	30310											
LRFN5	145581	broad.mit.edu	37	14	42356893	42356893	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr14:42356893T>A	ENST00000298119.4	+	3	2254	c.1065T>A	c.(1063-1065)ttT>ttA	p.F355L	LRFN5_ENST00000554171.1_Missense_Mutation_p.F355L|LRFN5_ENST00000554120.1_Missense_Mutation_p.F355L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	355	Ig-like.					integral component of membrane (GO:0016021)		p.F355L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAGGTGCTTTTACCTGCATTG	0.393										HNSCC(30;0.082)																																						1	Substitution - Missense(1)	kidney(1)											92	92	92					14																	42356893		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1065T>A	14.37:g.42356893T>A	ENSP00000298119:p.Phe355Leu		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.235168	0.58886	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.74315	-0.83;-0.83;-0.83	5.4	4.26	0.50523	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000018	D	0.82646	0.5082	M	0.69185	2.1	0.53005	D	0.999967	D;D	0.65815	0.987;0.995	D;D	0.72338	0.927;0.977	T	0.83003	-0.0176	10	0.87932	D	0	.	9.6393	0.39828	0.0:0.0834:0.0:0.9166	.	355;355	G3V364;Q96NI6	.;LRFN5_HUMAN	L	355	ENSP00000298119:F355L;ENSP00000451897:F355L;ENSP00000451067:F355L	ENSP00000298119:F355L	F	+	3	2	LRFN5	41426643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.449000	0.44935	0.988000	0.38734	0.460000	0.39030	TTT		0.393	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		A	42356893	T	A	42356893	3	1	559	1	0	0	0	0	1	0	0	0	8943	1751	61	5	1067	5	LRFN5	14	42356893	Missense_Mutation	SNP	T	TCGA-CW-5581-01A-02D-1534-10	17932473	42356893	64992647	42	30311											
FLRT2	23768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	86089421	86089421	+	Silent	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr14:86089421C>T	ENST00000330753.4	+	2	2330	c.1563C>T	c.(1561-1563)aaC>aaT	p.N521N	FLRT2_ENST00000554746.1_Silent_p.N521N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	521					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.N521N(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATCTGAACAACGGCAGCAACA	0.567																																																1	Substitution - coding silent(1)	kidney(1)											105	102	103					14																	86089421		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1563C>T	14.37:g.86089421C>T			A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.567	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			T	86089421	C	T	86089421	2	4	559	1	0	0	0	0	0	0	0	1	5941	535	19	1		1	FLRT2	14	86089421	Silent	SNP	C	TCGA-CW-5581-01A-02D-1534-10	43732528	86089421	21260119	43	30312											
AQR	9716	broad.mit.edu;ucsc.edu	37	15	35236588	35236588	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr15:35236588T>G	ENST00000156471.5	-	6	597	c.372A>C	c.(370-372)aaA>aaC	p.K124N		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	124					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K124N(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCAAGATGTGTTTAAAAAAGA	0.338																																																1	Substitution - Missense(1)	kidney(1)											168	165	166					15																	35236588		1823	4081	5904	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.372A>C	15.37:g.35236588T>G	ENSP00000156471:p.Lys124Asn		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.862626	0.51482	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93811	-3.29	5.31	1.23	0.21249	.	0.042884	0.85682	D	0.000000	D	0.86079	0.5847	L	0.45137	1.4	0.47183	D	0.999341	P	0.36683	0.565	B	0.24006	0.05	T	0.77923	-0.2406	10	0.29301	T	0.29	-19.4919	9.8036	0.40779	0.0:0.6161:0.0:0.3839	.	124	O60306	AQR_HUMAN	N	124	ENSP00000156471:K124N	ENSP00000156471:K124N	K	-	3	2	AQR	33023880	0.988000	0.35896	0.908000	0.35775	0.895000	0.52256	0.317000	0.19487	-0.029000	0.13827	-0.912000	0.02778	AAA		0.338	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		G	35236588	T	G	35236588	3	3	559	1	0	0	0	0	1	0	0	0	835	1722	60	5	4205	5	AQR	15	35236588	Missense_Mutation	SNP	T	TCGA-CW-5581-01A-02D-1534-10		35236588	67294804	44	30313											
CEP152	22995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49089548	49089548	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr15:49089548G>T	ENST00000380950.2	-	5	677	c.490C>A	c.(490-492)Caa>Aaa	p.Q164K	CEP152_ENST00000325747.5_Intron|CEP152_ENST00000399334.3_Missense_Mutation_p.Q164K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	164					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.Q164K(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTGGTTGCTTGGTTATTAAAT	0.353																																																1	Substitution - Missense(1)	kidney(1)											152	140	144					15																	49089548		1846	4081	5927	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.490C>A	15.37:g.49089548G>T	ENSP00000370337:p.Gln164Lys		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667669	0.67814	.	.	ENSG00000103995	ENST00000380950;ENST00000399334;ENST00000541880	T;T	0.79940	-1.32;-1.32	4.31	4.31	0.51392	.	0.325796	0.29034	N	0.013346	D	0.87958	0.6309	M	0.67953	2.075	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.79784	0.993;0.991	D	0.88923	0.3367	10	0.59425	D	0.04	-13.9087	15.1359	0.72566	0.0:0.0:1.0:0.0	.	164;164	E7ER66;O94986	.;CE152_HUMAN	K	164	ENSP00000370337:Q164K;ENSP00000382271:Q164K	ENSP00000370337:Q164K	Q	-	1	0	CEP152	46876840	0.999000	0.42202	0.189000	0.23252	0.959000	0.62525	5.544000	0.67231	2.228000	0.72767	0.467000	0.42956	CAA		0.353	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		T	49089548	G	T	49089548	3	4	559	1	0	0	0	0	1	0	0	0	3250	1357	47	4	4562	4	CEP152	15	49089548	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10	13852960	49089548	53441844	45	30314											
SLC5A11	115584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24920266	24920266	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr16:24920266T>A	ENST00000347898.3	+	14	2121	c.1499T>A	c.(1498-1500)aTt>aAt	p.I500N	SLC5A11_ENST00000545376.1_Missense_Mutation_p.I430N|SLC5A11_ENST00000567758.1_Missense_Mutation_p.I465N|SLC5A11_ENST00000568579.1_Missense_Mutation_p.I430N|SLC5A11_ENST00000449109.2_Missense_Mutation_p.I344N|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I344N|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I436N|SLC5A11_ENST00000424767.2_Missense_Mutation_p.I465N|SLC5A11_ENST00000565769.1_Missense_Mutation_p.I436N	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.I500N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTGGACTTTATTTACGTGCAG	0.567																																																1	Substitution - Missense(1)	kidney(1)											87	66	73					16																	24920266		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1499T>A	16.37:g.24920266T>A	ENSP00000289932:p.Ile500Asn			Missense_Mutation	SNP	ENST00000347898.3	37	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.813595	0.50527	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.98	4.89	0.63831	.	0.148917	0.64402	D	0.000012	T	0.70527	0.3234	M	0.78049	2.395	0.30961	N	0.723605	D;D;P;P	0.56521	0.96;0.976;0.756;0.895	P;P;P;P	0.53518	0.728;0.724;0.453;0.548	T	0.73017	-0.4115	10	0.35671	T	0.21	.	10.3452	0.43901	0.0:0.0774:0.0:0.9226	.	430;465;500;344	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	N	500;344;465;430;436	ENSP00000289932:I500N;ENSP00000389606:I344N;ENSP00000416782:I465N;ENSP00000441384:I430N;ENSP00000441018:I436N	ENSP00000289932:I500N	I	+	2	0	SLC5A11	24827767	0.251000	0.23961	0.010000	0.14722	0.490000	0.33462	3.404000	0.52623	1.079000	0.41038	0.482000	0.46254	ATT		0.567	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		A	24920266	T	A	24920266	3	1	559	1	0	0	0	0	1	0	0	0	14669	1493	52	5	1549	5	SLC5A11	16	24920266	Missense_Mutation	SNP	T	TCGA-CW-5581-01A-02D-1534-10		24920266	65434487	46	30315	219	2									
SLC5A11	115584	broad.mit.edu;ucsc.edu	37	16	24920271	24920271	+	Missense_Mutation	SNP	G	G	C	rs373043652		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr16:24920271G>C	ENST00000347898.3	+	14	2126	c.1504G>C	c.(1504-1506)Gtg>Ctg	p.V502L	SLC5A11_ENST00000545376.1_Missense_Mutation_p.V432L|SLC5A11_ENST00000567758.1_Missense_Mutation_p.V467L|SLC5A11_ENST00000568579.1_Missense_Mutation_p.V432L|SLC5A11_ENST00000449109.2_Missense_Mutation_p.V346L|SLC5A11_ENST00000569071.1_Missense_Mutation_p.V346L|SLC5A11_ENST00000539472.1_Missense_Mutation_p.V438L|SLC5A11_ENST00000424767.2_Missense_Mutation_p.V467L|SLC5A11_ENST00000565769.1_Missense_Mutation_p.V438L	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.V502L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTTTATTTACGTGCAGCCTCG	0.557																																																1	Substitution - Missense(1)	kidney(1)											91	68	76					16																	24920271		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1504G>C	16.37:g.24920271G>C	ENSP00000289932:p.Val502Leu			Missense_Mutation	SNP	ENST00000347898.3	37	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426177	0.25726	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.98	1.55	0.23275	.	1.071990	0.07063	N	0.834006	T	0.51941	0.1704	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.23058	0.004;0.079;0.027;0.043	B;B;B;B	0.23419	0.003;0.046;0.021;0.024	T	0.39502	-0.9611	10	0.36615	T	0.2	.	6.9712	0.24650	0.1627:0.2762:0.5611:0.0	.	432;467;502;346	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	L	502;346;467;432;438	ENSP00000289932:V502L;ENSP00000389606:V346L;ENSP00000416782:V467L;ENSP00000441384:V432L;ENSP00000441018:V438L	ENSP00000289932:V502L	V	+	1	0	SLC5A11	24827772	0.000000	0.05858	0.006000	0.13384	0.487000	0.33371	-0.010000	0.12743	0.057000	0.16193	-0.216000	0.12614	GTG		0.557	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		C	24920271	G	C	24920271	3	2	559	1	0	0	0	0	1	0	0	0	14669	1145	40	4	1554	4	SLC5A11	16	24920271	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10	5	24920271	65434482	47	30316	219	2									
PLCG2	5336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	81954855	81954855	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr16:81954855G>A	ENST00000359376.3	+	21	2502	c.2288G>A	c.(2287-2289)aGt>aAt	p.S763N		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	763					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S763N(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTGGATCCCAGTGAAATCAAT	0.433																																																2	Substitution - Missense(2)	kidney(2)											116	109	111					16																	81954855		1929	4142	6071	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2288G>A	16.37:g.81954855G>A	ENSP00000352336:p.Ser763Asn		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	3.877	-0.026746	0.07589	.	.	ENSG00000197943	ENST00000359376	T	0.66815	-0.23	5.05	5.05	0.67936	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.224756	0.53938	D	0.000047	T	0.38480	0.1042	N	0.03608	-0.345	0.35484	D	0.798391	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.001	T	0.43147	-0.9409	10	0.02654	T	1	.	13.5493	0.61723	0.0:0.1557:0.8443:0.0	.	630;763	B4E3H3;P16885	.;PLCG2_HUMAN	N	763	ENSP00000352336:S763N	ENSP00000352336:S763N	S	+	2	0	PLCG2	80512356	1.000000	0.71417	0.935000	0.37517	0.961000	0.63080	2.942000	0.49018	2.496000	0.84212	0.467000	0.42956	AGT		0.433	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			A	81954855	G	A	81954855	3	1	559	1	0	0	0	0	1	0	0	0	12038	1029	36	2	2366	2	PLCG2	16	81954855	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10	57034584	81954855	8399898	48	30317											
SOCS7	30837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36523827	36523827	+	Silent	SNP	A	A	G	rs587650322		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr17:36523827A>G	ENST00000577233.1	+	6	1254	c.1254A>G	c.(1252-1254)ccA>ccG	p.P418P	SOCS7_ENST00000331159.5_Silent_p.P384P	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	418	Mediates interaction with SORBS3.|SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.P418P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					AAGGGAAACCAGATGGTTCTT	0.478													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19753	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											228	197	208					17																	36523827		2203	4300	6503	SO:0001819	synonymous_variant	30837			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"Suppressors of cytokine signaling", "SH2 domain containing"	29846	protein-coding gene	gene with protein product	"Nck, Ash and phospholipase C binding protein", "NCK-associated protein 4"	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1254A>G	17.37:g.36523827A>G			A2VCU2|Q0IJ63	Silent	SNP	ENST00000577233.1	37	CCDS32637.1																																																																																				0.478	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		G	36523827	A	G	36523827	2	3	559	1	0	0	0	0	0	0	0	1	14925	175	7	3		3	SOCS7	17	36523827	Silent	SNP	A	TCGA-CW-5581-01A-02D-1534-10		36523827	44671383	49	30318											
IGFBP4	3487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38610249	38610249	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr17:38610249C>T	ENST00000269593.4	+	3	852	c.577C>T	c.(577-579)Cac>Tac	p.H193Y	IGFBP4_ENST00000542955.1_Missense_Mutation_p.H93Y	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	193	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.H193Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GAGCCGCACCCACGAGGACCT	0.657																																					GBM(160;940 3581 26177)											1	Substitution - Missense(1)	kidney(1)											103	97	99					17																	38610249		2203	4300	6503	SO:0001583	missense	3487			M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.577C>T	17.37:g.38610249C>T	ENSP00000269593:p.His193Tyr		A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251942	0.80135	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.63255	-0.03;-0.03	5.91	5.91	0.95273	Thyroglobulin type-1 (4);	0.048706	0.85682	D	0.000000	T	0.69043	0.3067	L	0.44542	1.39	0.46564	D	0.999103	D	0.61080	0.989	P	0.62740	0.906	T	0.60332	-0.7284	10	0.09084	T	0.74	-2.8538	18.0867	0.89460	0.0:1.0:0.0:0.0	.	193	P22692	IBP4_HUMAN	Y	93;193	ENSP00000437734:H93Y;ENSP00000269593:H193Y	ENSP00000269593:H193Y	H	+	1	0	IGFBP4	35863775	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.936000	0.63506	2.793000	0.96121	0.655000	0.94253	CAC		0.657	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		T	38610249	C	T	38610249	3	4	559	1	0	0	0	0	1	0	0	0	7583	594	21	2	587	2	IGFBP4	17	38610249	Missense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10	2086422	38610249	42584961	50	30319											
MPP2	4355	broad.mit.edu	37	17	41960604	41960604	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr17:41960604C>G	ENST00000461854.1	-	5	427	c.342G>C	c.(340-342)gaG>gaC	p.E114D	MPP2_ENST00000536246.1_Missense_Mutation_p.E79D|MPP2_ENST00000377184.3_Missense_Mutation_p.E107D|MPP2_ENST00000518766.1_Missense_Mutation_p.E135D|MPP2_ENST00000269095.4_Missense_Mutation_p.E90D|MPP2_ENST00000523501.1_Missense_Mutation_p.E79D|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000473246.1_5'UTR			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	114	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.E90D(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGTGGGCCAGCTCGGCGGCTG	0.657																																																1	Substitution - Missense(1)	kidney(1)											22	23	22					17																	41960604		2202	4300	6502	SO:0001583	missense	4355				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.342G>C	17.37:g.41960604C>G	ENSP00000428286:p.Glu114Asp		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37		.	.	.	.	.	.	.	.	.	.	c	15.04	2.714169	0.48622	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000523501;ENST00000536246;ENST00000518766;ENST00000523220;ENST00000520406;ENST00000523762;ENST00000523934;ENST00000520241;ENST00000521178	T;T;T;T;T;T;T;T;T;T;T	0.69926	2.35;2.55;2.37;2.39;2.39;2.47;0.1;-0.44;-0.44;-0.2;-0.3	4.03	2.97	0.34412	L27, C-terminal (1);L27 (2);	.	.	.	.	T	0.66858	0.2832	M	0.65320	2	0.52501	D	0.999954	P;P;P	0.45011	0.848;0.628;0.706	P;P;B	0.47827	0.558;0.558;0.422	T	0.69774	-0.5054	9	0.62326	D	0.03	.	8.5261	0.33307	0.0:0.8727:0.0:0.1273	.	135;114;107	E7EV80;Q14168;Q14168-3	.;MPP2_HUMAN;.	D	107;90;114;79;79;135;73;90;79;90;96;90	ENSP00000366389:E107D;ENSP00000269095:E90D;ENSP00000428286:E114D;ENSP00000430540:E79D;ENSP00000438012:E79D;ENSP00000428182:E135D;ENSP00000428468:E73D;ENSP00000428354:E90D;ENSP00000430797:E90D;ENSP00000428938:E96D;ENSP00000430443:E90D	ENSP00000269095:E90D	E	-	3	2	MPP2	39316130	0.991000	0.36638	0.998000	0.56505	0.149000	0.21700	0.389000	0.20751	2.090000	0.63153	0.549000	0.68633	GAG		0.657	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		G	41960604	C	G	41960604	3	3	559	1	0	0	0	0	1	0	0	0	9736	796	28	4	1428	4	MPP2	17	41960604	Missense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10	3350355	41960604	39234606	51	30320											
STH	246744	broad.mit.edu	37	17	44076968	44076968	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr17:44076968A>C	ENST00000537309.1	+	1	353	c.323A>C	c.(322-324)cAc>cCc	p.H108P	MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000420682.2_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	108						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H108P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTCCCTCCCACCCTGCAGCT	0.587																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	246744			AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"microtubule-associated protein tau (MAPT) intronic transcript"	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.323A>C	17.37:g.44076968A>C	ENSP00000443168:p.His108Pro		A1L3X7	Missense_Mutation	SNP	ENST00000537309.1	37	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	A	6.352	0.433047	0.12045	.	.	ENSG00000256762	ENST00000537309	T	0.54071	0.59	2.83	-2.36	0.06663	.	.	.	.	.	T	0.39860	0.1094	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.57776	0.827	T	0.30621	-0.9972	9	0.87932	D	0	.	3.8598	0.08991	0.3547:0.3966:0.2487:0.0	.	108	Q8IWL8	STH_HUMAN	P	108	ENSP00000443168:H108P	ENSP00000443168:H108P	H	+	2	0	STH	41432805	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.152000	0.10159	-0.615000	0.05679	-0.415000	0.06103	CAC		0.587	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1			C	44076968	A	C	44076968	3	2	559	1	0	0	0	0	1	0	0	0	15286	159	6	5	325	5	STH	17	44076968	Missense_Mutation	SNP	A	TCGA-CW-5581-01A-02D-1534-10	2116364	44076968	37118242	52	30321											
C17orf47	284083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56620394	56620394	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr17:56620394A>T	ENST00000321691.3	-	1	1335	c.1154T>A	c.(1153-1155)aTg>aAg	p.M385K	SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	385								p.M385K(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTTGGGACATGTAAGTAAT	0.507																																																1	Substitution - Missense(1)	kidney(1)											152	138	143					17																	56620394		2203	4300	6503	SO:0001583	missense	284083				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1154T>A	17.37:g.56620394A>T	ENSP00000354874:p.Met385Lys		Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	A	3.803	-0.041318	0.07452	.	.	ENSG00000181013	ENST00000321691	T	0.29142	1.58	4.46	-4.91	0.03085	.	1.584660	0.03490	N	0.216469	T	0.12433	0.0302	N	0.14661	0.345	0.09310	N	1	B	0.21606	0.058	B	0.14578	0.011	T	0.23084	-1.0198	10	0.02654	T	1	2.7387	4.1063	0.10038	0.363:0.0:0.3723:0.2647	.	385	Q8NEP4	CQ047_HUMAN	K	385	ENSP00000354874:M385K	ENSP00000354874:M385K	M	-	2	0	C17orf47	53975393	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-1.044000	0.03532	-0.590000	0.05866	0.459000	0.35465	ATG		0.507	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		T	56620394	A	T	56620394	3	4	559	1	0	0	0	0	1	0	0	0	1860	217	8	5	566	5	C17orf47	17	56620394	Missense_Mutation	SNP	A	TCGA-CW-5581-01A-02D-1534-10	12543426	56620394	24574816	53	30322											
CDH2	1000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	25532271	25532271	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr18:25532271A>T	ENST00000269141.3	-	16	2990	c.2567T>A	c.(2566-2568)tTa>tAa	p.L856*	CDH2_ENST00000399380.3_Nonsense_Mutation_p.L825*|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	856					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.L856*(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTCAAACACTAACAGGGAGTC	0.478											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - Nonsense(1)	kidney(1)											100	96	97					18																	25532271		2203	4300	6503	SO:0001587	stop_gained	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2567T>A	18.37:g.25532271A>T	ENSP00000269141:p.Leu856*	779	A8MWK3|B0YIY6|Q14923|Q8N173	Nonsense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	A	38	6.640340	0.97726	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6592	0.77169	1.0:0.0:0.0:0.0	.	.	.	.	X	856;825	.	ENSP00000269141:L856X	L	-	2	0	CDH2	23786269	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.095000	0.63458	0.482000	0.46254	TTA		0.478	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		T	25532271	A	T	25532271	4	4	559	1	0	0	0	0	0	1	0	0	3107	372	13	5	157	5	CDH2	18	25532271	Nonsense_Mutation	SNP	A	TCGA-CW-5581-01A-02D-1534-10		25532271	52544977	54	30323											
ZNF555	148254	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2853267	2853267	+	Missense_Mutation	SNP	G	G	A	rs374516727		TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr19:2853267G>A	ENST00000334241.4	+	4	1342	c.1204G>A	c.(1204-1206)Ggg>Agg	p.G402R	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.G401R	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G402R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACCAGTGCGGGAAAGCATT	0.483																																																1	Substitution - Missense(1)	kidney(1)						G	ARG/GLY,ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	74	62	66		1201,1204	2.2	0.1	19		66	0,8600		0,0,4300	no	missense,missense	ZNF555	NM_001172775.1,NM_152791.4	125,125	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	401/628,402/629	2853267	2,13004	2203	4300	6503	SO:0001583	missense	148254			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1204G>A	19.37:g.2853267G>A	ENSP00000334853:p.Gly402Arg		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937376	0.52972	4.54E-4	0.0	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.03524	3.9	3.22	2.16	0.27623	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15089	0.0364	M	0.77313	2.365	0.27843	N	0.941033	D;D	0.89917	1.0;0.999	D;P	0.78314	0.991;0.889	T	0.02491	-1.1151	9	0.66056	D	0.02	.	8.0652	0.30657	0.1277:0.0:0.8723:0.0	.	402;401	Q8NEP9;A8KA89	ZN555_HUMAN;.	R	402;401	ENSP00000334853:G402R	ENSP00000334853:G402R	G	+	1	0	ZNF555	2804267	0.862000	0.29867	0.117000	0.21633	0.518000	0.34316	3.873000	0.56093	0.682000	0.31407	0.561000	0.74099	GGG		0.483	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		A	2853267	G	A	2853267	3	1	559	1	0	0	0	0	1	0	0	0	17991	1116	39	1	1218	1	ZNF555	19	2853267	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10		2853267	56275716	55	30324											
ZNF709	163051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12574850	12574850	+	Missense_Mutation	SNP	C	C	T	rs183982301	byFrequency	TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr19:12574850C>T	ENST00000397732.3	-	4	2057	c.1886G>A	c.(1885-1887)cGt>cAt	p.R629H	ZNF709_ENST00000428311.1_Missense_Mutation_p.R629H|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R629H(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCGAAAGGAACGGGAACACTT	0.393																																					GBM(33;565 669 12371 29134 51667)											1	Substitution - Missense(1)	kidney(1)											140	151	147					19																	12574850		2197	4297	6494	SO:0001583	missense	163051			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1886G>A	19.37:g.12574850C>T	ENSP00000380840:p.Arg629His		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	9.801	1.180512	0.21787	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.07908	3.15;3.15	2.51	-1.23	0.09465	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	L	0.33792	1.035	0.09310	N	1	P	0.52170	0.951	B	0.35182	0.197	T	0.35375	-0.9791	9	0.87932	D	0	.	3.3457	0.07134	0.5186:0.2465:0.0:0.2349	.	629	Q8N972	ZN709_HUMAN	H	629	ENSP00000380840:R629H;ENSP00000404127:R629H	ENSP00000404127:R629H	R	-	2	0	ZNF709;CTD-2192J16.17	12435850	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-4.030000	0.00310	-0.166000	0.10890	0.655000	0.94253	CGT		0.393	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		T	12574850	C	T	12574850	3	4	559	1	0	0	0	0	1	0	0	0	18118	536	19	1	43	1	ZNF709	19	12574850	Missense_Mutation	SNP	C	TCGA-CW-5581-01A-02D-1534-10	9721583	12574850	46554133	56	30325											
C21orf56	84221	broad.mit.edu;hgsc.bcm.edu	37	21	47588274	47588274	+	Silent	SNP	C	C	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chr21:47588274C>T	ENST00000291672.5	-	3	1553	c.492G>A	c.(490-492)tcG>tcA	p.S164S	SPATC1L_ENST00000330205.6_Silent_p.S10S	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	164								p.S164S(1)|p.S10S(1)									GGCTGCTCTCCGAGAAACACA	0.662																																																2	Substitution - coding silent(2)	kidney(2)											46	40	42					21																	47588274		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"speriolin-like protein"	612412	"chromosome 21 open reading frame 56"	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.492G>A	21.37:g.47588274C>T			B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Silent	SNP	ENST00000291672.5	37	CCDS46653.1																																																																																				0.662	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376654.1	NM_032261		T	47588274	C	T	47588274	2	4	559	1	0	0	0	0	0	0	0	1	2129	639	23	1		1	C21orf56	21	47588274	Silent	SNP	C	TCGA-CW-5581-01A-02D-1534-10		47588274	541621	57	30326											
MAP3K15	389840	broad.mit.edu;hgsc.bcm.edu	37	X	19398325	19398325	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chrX:19398325G>C	ENST00000338883.4	-	19	2501	c.2502C>G	c.(2500-2502)atC>atG	p.I834M	MAP3K15_ENST00000359173.3_Missense_Mutation_p.I269M|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.I666M	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.I881M(1)|p.I309M(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CCAGGGACCAGATATCGGCTG	0.542																																																2	Substitution - Missense(2)	kidney(2)											59	49	52					X																	19398325		2202	4300	6502	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2502C>G	X.37:g.19398325G>C	ENSP00000345629:p.Ile834Met		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	G	19.29	3.798338	0.70567	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.27720	1.65;1.65;1.65	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.57458	-0.7808	10	0.87932	D	0	.	13.0244	0.58806	0.0783:0.0:0.9216:0.0	.	309;834	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	M	834;269;666	ENSP00000345629:I834M;ENSP00000352093:I269M;ENSP00000428356:I666M	ENSP00000345629:I834M	I	-	3	3	MAP3K15	19308246	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.759000	0.62227	2.385000	0.81259	0.600000	0.82982	ATC		0.542	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		C	19398325	G	C	19398325	3	2	559	1	0	0	0	0	1	0	0	0	9251	932	33	4	1483	4	MAP3K15	23	19398325	Missense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10		19398325	135872235	58	30327											
KDM5C	8242	ucsc.edu	37	X	53222684	53222694	+	Frame_Shift_Del	DEL	TGTGGTTCTCA	TGTGGTTCTCA	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	TGTGGTTCTCA	TGTGGTTCTCA	TGTGGTTCTCA	-	TGTGGTTCTCA	TGTGGTTCTCA	Unknown	Valid	Somatic	.	WXS	PGM	.		Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chrX:53222684_53222694delTGTGGTTCTCA	ENST00000375401.3	-	25	4774_4784	c.4242_4252delTGAGAACCACA	c.(4240-4254)gatgagaaccacagcfs	p.DENHS1414fs	KDM5C_ENST00000375379.3_Frame_Shift_Del_p.DENHS1411fs|KDM5C_ENST00000452825.3_Frame_Shift_Del_p.DENHS1344fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.DENHS1370fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.DENHS1413fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1414					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGCCATATGCTGTGGTTCTCATCCAGGGTCA	0.64			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0																																										SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4242_4252delTGAGAACCACA	X.37:g.53222684_53222694delTGTGGTTCTCA	ENSP00000364550:p.Asp1414fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.64	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		-	53222694	TGTGGTTCTCA	-	53222684	7	5	559	1	0	1	0	1	0	0	0	0	8137	1580	55	0	536	0	KDM5C	23	53222684	Frame_Shift_Del	DEL	TGTGGTTCTCA	TCGA-CW-5581-01A-02D-1534-10	33824359	53222684	102047876	59	30328											
ARMCX5	64860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101857839	101857841	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chrX:101857839_101857841delCTC	ENST00000604957.1	+	1	3392_3394	c.770_772delCTC	c.(769-774)actcct>act	p.P258del	ARMCX5_ENST00000372742.1_In_Frame_Del_p.P258del|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_In_Frame_Del_p.P258del|ARMCX5_ENST00000541409.1_In_Frame_Del_p.P258del|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_In_Frame_Del_p.P258del|ARMCX5_ENST00000246174.2_In_Frame_Del_p.P258del	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	258										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TTGATTGAAACTCCTCTGGGGAT	0.473																																																0																																										SO:0001651	inframe_deletion	64860				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.770_772delCTC	X.37:g.101857842_101857844delCTC	ENSP00000474720:p.Pro258del		B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	In_Frame_Del	DEL	ENST00000604957.1	37	CCDS14500.1																																																																																				0.473	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		-	101857841	CTC	-	101857839	7	5	559	1	0	1	0	1	0	0	0	0	962	565	20	0	772	0	ARMCX5	23	101857839	In_Frame_Del	DEL	CTC	TCGA-CW-5581-01A-02D-1534-10	48635155	101857839	53412721	60	30329											
CAPN6	827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	110494226	110494226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CW-5581-01A-02D-1534-10	TCGA-CW-5581-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9dd4c01f-e870-4108-95d7-dc7cc03999ef	9e10c397-7f80-4c05-a536-1bb1fce0a198	g.chrX:110494226G>T	ENST00000324068.1	-	8	1244	c.1077C>A	c.(1075-1077)tgC>tgA	p.C359*	CAPN6_ENST00000541758.1_Nonsense_Mutation_p.C104*	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	359	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.C359*(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCACAGTCCAGCATCCCAACA	0.488																																																1	Substitution - Nonsense(1)	kidney(1)											324	283	297					X																	110494226		2203	4300	6503	SO:0001587	stop_gained	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1077C>A	X.37:g.110494226G>T	ENSP00000317214:p.Cys359*		D3DUY7|Q9UEQ1|Q9UJA8	Nonsense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	38	6.768040	0.97825	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	.	.	.	5.95	4.17	0.49024	.	0.453696	0.24165	N	0.040954	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.6377	0.08155	0.2574:0.0:0.4556:0.2869	.	.	.	.	X	359;104	.	ENSP00000317214:C359X	C	-	3	2	CAPN6	110380882	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.006000	0.29847	0.626000	0.30322	0.600000	0.82982	TGC		0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			T	110494226	G	T	110494226	4	4	559	1	0	0	0	0	0	1	0	0	2632	963	34	4	872	4	CAPN6	23	110494226	Nonsense_Mutation	SNP	G	TCGA-CW-5581-01A-02D-1534-10	8636387	110494226	44776334	61	30330											
VHL	7428	hgsc.bcm.edu	37	3	10183734	10183734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-5581-01A-02W-1584-10	TCGA-CW-5581-11A-01W-1585-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq	.		PacBio RS	f75c2b3b-b7d6-4364-9abc-65a050b69668	adde7384-5684-4442-b53e-77b0aa93be0d	g.chr3:10183734C>A	ENST00000256474.2	+	1	1043	c.203C>A	c.(202-204)tCg>tAg	p.S68*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCGGTGAACTCGCGCGAGCCC	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Nonsense(15)|Deletion - Frameshift(3)|Complex - frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(24)	GRCh37	CM003058|CM971566	VHL	M							8	11	10					3																	10183734		2146	4213	6359	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.203C>A	3.37:g.10183734C>A	ENSP00000256474:p.Ser68*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088584	0.94100	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.45	4.53	0.55603	.	0.369470	0.28203	N	0.016215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8236	13.5532	0.61745	0.0:0.7597:0.2403:0.0	.	.	.	.	X	68	.	ENSP00000256474:S68X	S	+	2	0	VHL	10158734	0.146000	0.22672	0.981000	0.43875	0.672000	0.39443	0.351000	0.20096	2.567000	0.86603	0.550000	0.68814	TCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183734	C	A	10183734	4	1	560	1	0	0	0	0	0	1	0	0	17167	893	31	4	205	4	VHL	3	10183734	Nonsense_Mutation	SNP	C	TCGA-CW-5581-01A-02W-1584-10		10183734	187838696	1	30331											
EPHA10	284656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	38186483	38186483	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr1:38186483C>T	ENST00000373048.4	-	12	2179	c.2180G>A	c.(2179-2181)aGc>aAc	p.S727N	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.S222N|EPHA10_ENST00000427468.2_Missense_Mutation_p.S727N|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	727	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.S728N(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCCCATGGCTCATGTACTC	0.562																																																1	Substitution - Missense(1)	kidney(1)											71	78	76					1																	38186483		2020	4157	6177	SO:0001583	missense	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2180G>A	1.37:g.38186483C>T	ENSP00000362139:p.Ser727Asn		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342783	0.41498	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	T;T;T	0.62639	0.01;0.01;0.01	4.41	2.5	0.30297	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.190617	0.25971	N	0.027127	T	0.44871	0.1314	N	0.25380	0.74	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.30563	-0.9974	10	0.59425	D	0.04	.	7.105	0.25358	0.0:0.7145:0.0:0.2855	.	727	Q5JZY3	EPHAA_HUMAN	N	222;727;727	ENSP00000330379:S222N;ENSP00000397746:S727N;ENSP00000362139:S727N	ENSP00000330379:S222N	S	-	2	0	EPHA10	37959070	0.996000	0.38824	0.992000	0.48379	0.987000	0.75469	0.554000	0.23407	0.408000	0.25621	0.467000	0.42956	AGC		0.562	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		T	38186483	C	T	38186483	3	4	561	1	0	0	0	0	1	0	0	0	5168	797	28	2	870	2	EPHA10	1	38186483	Missense_Mutation	SNP	C	TCGA-CW-5583-01A-02D-1534-10		38186483	211064138	1	30332											
IGSF3	3321	hgsc.bcm.edu	37	1	117142613	117142613	+	Missense_Mutation	SNP	C	C	T	rs76151115	byFrequency	TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr1:117142613C>T	ENST00000369486.3	-	7	2744	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	IGSF3_ENST00000369483.1_Missense_Mutation_p.R680Q|IGSF3_ENST00000318837.6_Missense_Mutation_p.R680Q	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	660	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCCGCCAGTCGCGTCCAGGT	0.612																																																0													69	54	59					1																	117142613		2203	4300	6503	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1979G>A	1.37:g.117142613C>T	ENSP00000358498:p.Arg660Gln		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979753	0.34942	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03212	4.01;4.04;4.04	4.56	2.7	0.31948	Immunoglobulin subtype (1);	0.270543	0.31010	N	0.008430	T	0.01353	0.0044	L	0.29908	0.895	0.36040	D	0.840027	D;D;D	0.59767	0.982;0.986;0.986	B;P;P	0.45310	0.345;0.476;0.476	T	0.64071	-0.6493	10	0.22706	T	0.39	-28.9658	8.7768	0.34767	0.0:0.8142:0.0:0.1858	.	680;660;680	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Q	660;680;680	ENSP00000358498:R660Q;ENSP00000358495:R680Q;ENSP00000321184:R680Q	ENSP00000321184:R680Q	R	-	2	0	IGSF3	116944136	0.789000	0.28775	0.602000	0.28890	0.526000	0.34562	2.194000	0.42668	0.550000	0.28991	-0.384000	0.06662	CGA		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		T	117142613	C	T	117142613	3	4	561	1	0	0	0	0	1	0	0	0	7603	884	31	1	1625	1	IGSF3	1	117142613	Missense_Mutation	SNP	C	TCGA-CW-5583-01A-02D-1534-10	78956130	117142613	132108008	2	30333											
CTSS	1520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150724283	150724283	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr1:150724283C>G	ENST00000368985.3	-	5	861	c.601G>C	c.(601-603)Gac>Cac	p.D201H	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.D151H	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	201					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.D201H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TAGGAAGCGTCTGAGTCGATG	0.473																																																1	Substitution - Missense(1)	kidney(1)											208	177	188					1																	150724283		2203	4300	6503	SO:0001583	missense	1520			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.601G>C	1.37:g.150724283C>G	ENSP00000357981:p.Asp201His		B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	CCDS968.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983541	0.74474	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.97665	-4.48;1.9	5.34	5.34	0.76211	Peptidase C1A, papain C-terminal (2);	0.533495	0.22034	N	0.065560	D	0.97486	0.9177	L	0.48877	1.53	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.72982	0.979;0.976	D	0.98556	1.0639	10	0.87932	D	0	.	18.0329	0.89290	0.0:1.0:0.0:0.0	.	151;201	B4DWC9;P25774	.;CATS_HUMAN	H	151;201	ENSP00000408414:D151H;ENSP00000357981:D201H	ENSP00000357981:D201H	D	-	1	0	CTSS	148990907	1.000000	0.71417	0.207000	0.23584	0.506000	0.33950	7.776000	0.85560	2.660000	0.90430	0.650000	0.86243	GAC		0.473	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		G	150724283	C	G	150724283	3	3	561	1	0	0	0	0	1	0	0	0	4043	913	32	4	410	4	CTSS	1	150724283	Missense_Mutation	SNP	C	TCGA-CW-5583-01A-02D-1534-10	33581670	150724283	98526338	3	30334											
IFI16	3428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158988366	158988366	+	Silent	SNP	G	G	A			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr1:158988366G>A	ENST00000295809.7	+	5	1152	c.897G>A	c.(895-897)aaG>aaA	p.K299K	IFI16_ENST00000430894.2_Silent_p.K247K|IFI16_ENST00000448393.2_Silent_p.K299K|IFI16_ENST00000340979.6_Silent_p.K299K|IFI16_ENST00000368131.4_Silent_p.K299K|IFI16_ENST00000359709.3_Silent_p.K243K|IFI16_ENST00000368132.3_Silent_p.K299K			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	299	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.K299K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ACAGAGCAAAGGAAACTCTGA	0.348																																																1	Substitution - coding silent(1)	kidney(1)											71	76	74					1																	158988366		2203	4300	6503	SO:0001819	synonymous_variant	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.897G>A	1.37:g.158988366G>A			B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37		.	.	.	.	.	.	.	.	.	.	G	2.715	-0.267917	0.05754	.	.	ENSG00000163565	ENST00000448393	.	.	.	3.09	-6.17	0.02091	.	.	.	.	.	T	0.04815	0.0130	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27706	-1.0066	4	.	.	.	.	0.933	0.01339	0.289:0.1232:0.3645:0.2232	.	.	.	.	K	120	.	.	R	+	2	0	IFI16	157254990	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.396000	0.00241	-1.736000	0.01352	0.555000	0.69702	AGG		0.348	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		A	158988366	G	A	158988366	2	1	561	1	0	0	0	0	0	0	0	1	7513	991	35	2		2	IFI16	1	158988366	Silent	SNP	G	TCGA-CW-5583-01A-02D-1534-10	8264083	158988366	90262255	4	30335											
PTGS2	5743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186643675	186643675	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr1:186643675A>C	ENST00000367468.5	-	10	1761	c.1625T>G	c.(1624-1626)tTt>tGt	p.F542C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	542					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.F542C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GATGATTTGAAAACCCACTTC	0.433																																																2	Substitution - Missense(2)	kidney(2)											186	164	172					1																	186643675		2203	4300	6503	SO:0001583	missense	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1625T>G	1.37:g.186643675A>C	ENSP00000356438:p.Phe542Cys		A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369075	0.82463	.	.	ENSG00000073756	ENST00000367468	T	0.69040	-0.37	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89970	0.4093	10	0.87932	D	0	-19.4498	15.3237	0.74144	1.0:0.0:0.0:0.0	.	542	P35354	PGH2_HUMAN	C	542	ENSP00000356438:F542C	ENSP00000356438:F542C	F	-	2	0	PTGS2	184910298	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	9.103000	0.94232	2.002000	0.58637	0.528000	0.53228	TTT		0.433	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		C	186643675	A	C	186643675	3	2	561	1	0	0	0	0	1	0	0	0	12762	14	1	5	193	5	PTGS2	1	186643675	Missense_Mutation	SNP	A	TCGA-CW-5583-01A-02D-1534-10	27655309	186643675	62606946	5	30336											
TP53BP2	7159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223983853	223983853	+	Silent	SNP	T	T	A			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr1:223983853T>A	ENST00000343537.7	-	13	2679	c.2388A>T	c.(2386-2388)ccA>ccT	p.P796P	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Silent_p.P29P|TP53BP2_ENST00000391878.2_Silent_p.P667P	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	790					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.P667P(1)|p.P796P(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CATGTAAATATGGATTCTGGA	0.512																																																2	Substitution - coding silent(2)	kidney(2)											118	128	125					1																	223983853		2203	4300	6503	SO:0001819	synonymous_variant	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2388A>T	1.37:g.223983853T>A			B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	CCDS44319.1																																																																																				0.512	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		A	223983853	T	A	223983853	2	1	561	1	0	0	0	0	0	0	0	1	16389	1451	51	5		5	TP53BP2	1	223983853	Silent	SNP	T	TCGA-CW-5583-01A-02D-1534-10	37340178	223983853	25266768	6	30337											
BMPR2	659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	203420922	203420922	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr2:203420922A>T	ENST00000374580.4	+	12	3073	c.2534A>T	c.(2533-2535)gAa>gTa	p.E845V	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	845					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E845V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGGGCCCAAGAAATGTTGCAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											119	112	114					2																	203420922		2203	4300	6503	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2534A>T	2.37:g.203420922A>T	ENSP00000363708:p.Glu845Val		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309229	0.40895	.	.	ENSG00000204217	ENST00000374580	D	0.90676	-2.71	6.17	6.17	0.99709	.	0.315381	0.39146	N	0.001451	D	0.85120	0.5624	N	0.19112	0.55	0.80722	D	1	B	0.23735	0.09	B	0.20767	0.031	T	0.81831	-0.0752	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	845	Q13873	BMPR2_HUMAN	V	845	ENSP00000363708:E845V	ENSP00000363708:E845V	E	+	2	0	BMPR2	203129167	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.613000	0.54152	2.371000	0.80710	0.533000	0.62120	GAA		0.468	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		T	203420922	A	T	203420922	3	4	561	1	0	0	0	0	1	0	0	0	1471	246	9	5	2580	5	BMPR2	2	203420922	Missense_Mutation	SNP	A	TCGA-CW-5583-01A-02D-1534-10		203420922	39778451	7	30338	220	2									
BMPR2	659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	203420924	203420924	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr2:203420924A>T	ENST00000374580.4	+	12	3075	c.2536A>T	c.(2536-2538)Atg>Ttg	p.M846L	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	846					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.M846L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GGCCCAAGAAATGTTGCAGAA	0.468																																																1	Substitution - Missense(1)	kidney(1)											121	113	116					2																	203420924		2203	4300	6503	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2536A>T	2.37:g.203420924A>T	ENSP00000363708:p.Met846Leu		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	A	8.545	0.874096	0.17395	.	.	ENSG00000204217	ENST00000374580	D	0.88046	-2.33	6.17	3.67	0.42095	.	0.231983	0.56097	N	0.000022	T	0.72819	0.3508	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.64748	-0.6334	10	0.17832	T	0.49	.	12.9586	0.58444	0.7452:0.2548:0.0:0.0	.	846	Q13873	BMPR2_HUMAN	L	846	ENSP00000363708:M846L	ENSP00000363708:M846L	M	+	1	0	BMPR2	203129169	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.922000	0.28734	1.138000	0.42230	0.533000	0.62120	ATG		0.468	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		T	203420924	A	T	203420924	3	4	561	1	0	0	0	0	1	0	0	0	1471	101	4	5	2582	5	BMPR2	2	203420924	Missense_Mutation	SNP	A	TCGA-CW-5583-01A-02D-1534-10	2	203420924	39778449	8	30339	220	2									
PTPRN	5798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220159737	220159737	+	Missense_Mutation	SNP	C	C	T	rs548633041		TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr2:220159737C>T	ENST00000295718.2	-	19	2875	c.2635G>A	c.(2635-2637)Ggc>Agc	p.G879S	PTPRN_ENST00000423636.2_Missense_Mutation_p.G789S|PTPRN_ENST00000497977.1_5'UTR|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.G850S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	879	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G879S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCGGTGTGCCCTCTGCCGGC	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		12687	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											31	37	35					2																	220159737		2199	4298	6497	SO:0001583	missense	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2635G>A	2.37:g.220159737C>T	ENSP00000295718:p.Gly879Ser		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	37	6.578634	0.97680	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.17213	2.29;2.29;2.29	5.18	5.18	0.71444	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	1.0;0.963	D;D	0.97110	1.0;0.93	T	0.16217	-1.0410	10	0.87932	D	0	.	18.502	0.90886	0.0:1.0:0.0:0.0	.	850;879	Q6NSL1;Q16849	.;PTPRN_HUMAN	S	850;879;850;789	ENSP00000386638:G850S;ENSP00000295718:G879S;ENSP00000444244:G789S	ENSP00000295718:G879S	G	-	1	0	PTPRN	219867981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.719000	0.61937	2.689000	0.91719	0.637000	0.83480	GGC		0.716	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			T	220159737	C	T	220159737	3	4	561	1	0	0	0	0	1	0	0	0	12813	623	22	2	324	2	PTPRN	2	220159737	Missense_Mutation	SNP	C	TCGA-CW-5583-01A-02D-1534-10	16738813	220159737	23039636	9	30340											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191569	10191569	+	Frame_Shift_Del	DEL	C	C	-	rs5030824		TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr3:10191569delC	ENST00000256474.2	+	3	1402	c.562delC	c.(562-564)ctgfs	p.L188fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.L147fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	188			L -> P (in VHLD; type I-II). {ECO:0000269|PubMed:9829912}.|L -> Q (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|L -> V (in ECYT2, pheochromocytoma and VHLD; type IIA; dbSNP:rs5030824). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:12844285}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.D187_L188del(2)|p.L188V(1)|p.L188fs*14(1)|p.D187_N193del(1)|p.E186fs*14(1)|p.Y185fs*11(1)|p.D187fs*14(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTACGAAGATCTGGAAGACCA	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Deletion - Frameshift(4)|Deletion - In frame(3)|Substitution - Missense(1)	kidney(8)	GRCh37	CD071417|CM951300	VHL	D|M	rs5030824						77	70	73					3																	10191569		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.562delC	3.37:g.10191569delC	ENSP00000256474:p.Leu188fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191569	C	-	10191569	7	5	561	1	0	1	0	1	0	0	0	0	17167	912	32	0	572	0	VHL	3	10191569	Frame_Shift_Del	DEL	C	TCGA-CW-5583-01A-02D-1534-10		10191569	187830861	10	30341											
C4orf39	152756	hgsc.bcm.edu;ucsc.edu	37	4	165878425	165878426	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr4:165878425_165878426delTC	ENST00000513876.2	+	1	326_327	c.251_252delTC	c.(250-252)ttcfs	p.F84fs	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	84																	CGAATCGTTTTCTCCGCGTGCC	0.594																																																0																																										SO:0001589	frameshift_variant	0			AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 39"	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.251_252delTC	4.37:g.165878427_165878428delTC	ENSP00000427428:p.Phe84fs			Frame_Shift_Del	DEL	ENST00000513876.2	37	CCDS3807.1																																																																																				0.594	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364308.1	NM_153027		-	165878426	TC	-	165878425	7	5	561	1	0	1	0	1	0	0	0	0	2270	1783	62	0	253	0	C4orf39	4	165878425	Frame_Shift_Del	DEL	TC	TCGA-CW-5583-01A-02D-1534-10		165878425	25275851	11	30342											
ISL1	3670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	50685635	50685635	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr5:50685635G>C	ENST00000230658.7	+	4	1219	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	ISL1_ENST00000511384.1_Missense_Mutation_p.E212Q|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	212					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.E212Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GCTCATGAAGGAGCAACTGGT	0.587																																																1	Substitution - Missense(1)	kidney(1)											67	78	74					5																	50685635		2203	4300	6503	SO:0001583	missense	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.634G>C	5.37:g.50685635G>C	ENSP00000230658:p.Glu212Gln		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	CCDS43314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.790679|4.790679	0.90367|0.90367	.|.	.|.	ENSG00000016082|ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384|ENST00000505475	D;D|.	0.96427|.	-4.01;-4.01|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72787|0.72787	0.3504|0.3504	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.74460|0.74460	-0.3658|-0.3658	10|6	0.87932|0.87932	D|D	0|0	.|.	19.565|19.565	0.95389|0.95389	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	212|.	P61371|.	ISL1_HUMAN|.	Q|A	212|158	ENSP00000230658:E212Q;ENSP00000422676:E212Q|.	ENSP00000230658:E212Q|ENSP00000421737:G158A	E|G	+|+	1|2	0|0	ISL1|ISL1	50721392|50721392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.699000|0.699000	0.40488|0.40488	9.743000|9.743000	0.98849|0.98849	2.598000|2.598000	0.87819|0.87819	0.585000|0.585000	0.79938|0.79938	GAG|GGA		0.587	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		C	50685635	G	C	50685635	3	2	561	1	0	0	0	0	1	0	0	0	7858	1175	41	4	648	4	ISL1	5	50685635	Missense_Mutation	SNP	G	TCGA-CW-5583-01A-02D-1534-10		50685635	130229625	12	30343											
RGMB	285704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	98115300	98115300	+	Silent	SNP	A	A	T			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr5:98115300A>T	ENST00000513185.1	+	2	589	c.153A>T	c.(151-153)ccA>ccT	p.P51P	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Silent_p.P92P			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	51					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)	p.P92P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		GCCAACAGCCAGCCCAATGTC	0.463																																																1	Substitution - coding silent(1)	kidney(1)											178	178	178					5																	98115300		1995	4157	6152	SO:0001819	synonymous_variant	285704			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.153A>T	5.37:g.98115300A>T			D6R9A0|Q8NC92	Silent	SNP	ENST00000513185.1	37																																																																																					0.463	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		T	98115300	A	T	98115300	2	4	561	1	0	0	0	0	0	0	0	1	13287	175	7	5		5	RGMB	5	98115300	Silent	SNP	A	TCGA-CW-5583-01A-02D-1534-10	47429665	98115300	82799960	13	30344											
ATF6B	1388	hgsc.bcm.edu	37	6	32088654	32088655	+	Frame_Shift_Ins	INS	-	-	G	rs557874697		TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr6:32088654_32088655insG	ENST00000375203.3	-	8	757_758	c.725_726insC	c.(724-726)ccgfs	p.P242fs	ATF6B_ENST00000375201.4_Frame_Shift_Ins_p.P239fs	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	242					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GCTGCAGTGGCGGCTTCCGGGT	0.569																																																0																																										SO:0001589	frameshift_variant	1388				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.726dupC	6.37:g.32088656_32088656dupG	ENSP00000364349:p.Pro242fs		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Frame_Shift_Ins	INS	ENST00000375203.3	37	CCDS4737.1																																																																																				0.569	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			G	32088655	-	G	32088654	7	5	561	1	0	1	1	0	0	0	0	0	1085	755	27	0	1429	0	ATF6B	6	32088654	Frame_Shift_Ins	INS	-	TCGA-CW-5583-01A-02D-1534-10		32088654	139026413	14	30345											
EGFL8	80864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	32134517	32134517	+	Silent	SNP	G	G	A			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr6:32134517G>A	ENST00000395512.1	+	4	369	c.264G>A	c.(262-264)gaG>gaA	p.E88E	EGFL8_ENST00000333845.6_Silent_p.E88E|AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	88	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E88E(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TGAGGCGGGAGGTTCAGCAGA	0.657																																																1	Substitution - coding silent(1)	kidney(1)											44	53	50					6																	32134517		2203	4300	6503	SO:0001819	synonymous_variant	80864			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"chromosome 6 open reading frame 8"	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.264G>A	6.37:g.32134517G>A			B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	ENST00000395512.1	37	CCDS4743.1																																																																																				0.657	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		A	32134517	G	A	32134517	2	1	561	1	0	0	0	0	0	0	0	1	4967	991	35	2		2	EGFL8	6	32134517	Silent	SNP	G	TCGA-CW-5583-01A-02D-1534-10	45863	32134517	138980550	15	30346											
MRPL14	64928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44084332	44084332	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr6:44084332C>T	ENST00000372014.3	-	2	148	c.17G>A	c.(16-18)gGg>gAg	p.G6E		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	6					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G6E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			GCCCCAGAGCCCAGTAAAGAA	0.448																																																1	Substitution - Missense(1)	kidney(1)											80	85	83					6																	44084332		2203	4300	6503	SO:0001583	missense	64928			AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"Mitochondrial ribosomal proteins / large subunits"	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.17G>A	6.37:g.44084332C>T	ENSP00000361084:p.Gly6Glu		B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988935	0.35131	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.03	3.2	0.36748	.	0.366614	0.27375	N	0.019659	T	0.13072	0.0317	L	0.27053	0.805	0.09310	N	1	B	0.23377	0.084	B	0.24155	0.051	T	0.16512	-1.0400	9	0.66056	D	0.02	-0.9524	8.3111	0.32071	0.0:0.7571:0.157:0.0859	.	6	Q6P1L8	RM14_HUMAN	E	6	.	ENSP00000361084:G6E	G	-	2	0	MRPL14	44192310	0.000000	0.05858	0.017000	0.16124	0.888000	0.51559	0.449000	0.21744	0.750000	0.32877	0.655000	0.94253	GGG		0.448	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		T	44084332	C	T	44084332	3	4	561	1	0	0	0	0	1	0	0	0	9781	623	22	2	428	2	MRPL14	6	44084332	Missense_Mutation	SNP	C	TCGA-CW-5583-01A-02D-1534-10	11949815	44084332	127030735	16	30347											
LRP11	84918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150174142	150174142	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr6:150174142C>A	ENST00000239367.2	-	2	773	c.768G>T	c.(766-768)atG>atT	p.M256I	LRP11_ENST00000546019.1_Start_Codon_SNP_p.M1I|LRP11_ENST00000367368.2_Missense_Mutation_p.M256I|RP11-350J20.12_ENST00000472053.2_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	256	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)		p.M256I(1)		cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCGTTACCTTCATGTCCACTG	0.527																																																1	Substitution - Missense(1)	kidney(1)											88	79	82					6																	150174142		2203	4300	6503	SO:0001583	missense	84918			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.768G>T	6.37:g.150174142C>A	ENSP00000239367:p.Met256Ile		Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	C	35	5.476251	0.96291	.	.	ENSG00000120256	ENST00000239367;ENST00000546019;ENST00000367368	T;D;T	0.97066	3.57;-4.23;2.86	5.45	5.45	0.79879	PKD/Chitinase domain (1);PKD domain (3);	0.077012	0.85682	D	0.000000	D	0.96056	0.8715	L	0.35644	1.08	0.80722	D	1	D;D	0.65815	0.995;0.984	P;P	0.59115	0.852;0.724	D	0.95362	0.8456	10	0.36615	T	0.2	-14.4133	16.2004	0.82067	0.0:1.0:0.0:0.0	.	256;256	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	I	256;1;256	ENSP00000239367:M256I;ENSP00000440196:M1I;ENSP00000356338:M256I	ENSP00000239367:M256I	M	-	3	0	LRP11	150215835	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.146000	0.58072	2.562000	0.86427	0.591000	0.81541	ATG		0.527	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		A	150174142	C	A	150174142	3	1	561	1	0	0	0	0	1	0	0	0	8955	826	29	4	758	4	LRP11	6	150174142	Missense_Mutation	SNP	C	TCGA-CW-5583-01A-02D-1534-10	106089810	150174142	20940925	17	30348											
PON3	5446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94993300	94993300	+	Silent	SNP	C	C	A			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr7:94993300C>A	ENST00000265627.5	-	6	580	c.570G>T	c.(568-570)ctG>ctT	p.L190L	PON3_ENST00000427422.1_Silent_p.L190L|PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_Silent_p.L190L	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	190					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.L190L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CAAAAAATGACAGGAGGGAGT	0.433																																																1	Substitution - coding silent(1)	kidney(1)											166	164	165					7																	94993300		2203	4300	6503	SO:0001819	synonymous_variant	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.570G>T	7.37:g.94993300C>A			A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	CCDS5639.1																																																																																				0.433	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		A	94993300	C	A	94993300	2	1	561	1	0	0	0	0	0	0	0	1	12252	465	17	4		4	PON3	7	94993300	Silent	SNP	C	TCGA-CW-5583-01A-02D-1534-10		94993300	64145363	18	30349											
UBE3C	9690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	156974262	156974262	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr7:156974262A>G	ENST00000348165.5	+	7	1027	c.667A>G	c.(667-669)Att>Gtt	p.I223V	UBE3C_ENST00000389103.4_Missense_Mutation_p.I180V	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	223					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I223V(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCCATCAAGTATTGAATATTC	0.328																																																1	Substitution - Missense(1)	kidney(1)											78	78	78					7																	156974262		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.667A>G	7.37:g.156974262A>G	ENSP00000309198:p.Ile223Val		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372225	0.42003	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.41065	1.01	5.18	4.03	0.46877	.	0.116985	0.64402	N	0.000018	T	0.41558	0.1164	L	0.50333	1.59	0.43787	D	0.99632	B;B;P	0.47910	0.078;0.427;0.902	B;B;P	0.48189	0.012;0.204;0.57	T	0.13072	-1.0523	10	0.20046	T	0.44	.	10.5143	0.44881	0.9243:0.0:0.0757:0.0	.	223;223;180	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	V	223;180	ENSP00000309198:I223V	ENSP00000309198:I223V	I	+	1	0	UBE3C	156667023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.670000	0.46833	0.827000	0.34685	0.455000	0.32223	ATT		0.328	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		G	156974262	A	G	156974262	3	3	561	1	0	0	0	0	1	0	0	0	16886	449	16	3	693	3	UBE3C	7	156974262	Missense_Mutation	SNP	A	TCGA-CW-5583-01A-02D-1534-10	61980962	156974262	2164401	19	30350											
KIAA1598	57698	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	118719667	118719667	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr10:118719667C>T	ENST00000355371.4	-	4	744	c.247G>A	c.(247-249)Gct>Act	p.A83T	KIAA1598_ENST00000392903.2_Missense_Mutation_p.A83T|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.A23T|KIAA1598_ENST00000260777.10_Missense_Mutation_p.A83T	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	83					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)		p.A83T(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AAAGCTTCAGCACTTTCTCGA	0.373																																																2	Substitution - Missense(2)	kidney(2)											86	83	84					10																	118719667		2203	4300	6503	SO:0001583	missense	57698			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.247G>A	10.37:g.118719667C>T	ENSP00000347532:p.Ala83Thr		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	C	35	5.415511	0.96092	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.98	5.98	0.97165	.	0.047237	0.85682	D	0.000000	D	0.95720	0.8608	M	0.75615	2.305	0.53688	D	0.999979	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.87578	0.998;0.955;0.998	D	0.92759	0.6222	10	0.16420	T	0.52	-13.2913	20.4561	0.99145	0.0:1.0:0.0:0.0	.	83;83;53	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	T	83;83;83;23	ENSP00000376636:A83T;ENSP00000260777:A83T;ENSP00000347532:A83T;ENSP00000376635:A23T	ENSP00000260777:A83T	A	-	1	0	KIAA1598	118709657	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.058000	0.76676	2.847000	0.97988	0.591000	0.81541	GCT		0.373	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		T	118719667	C	T	118719667	3	4	561	1	0	0	0	0	1	0	0	0	8248	710	25	2	1704	2	KIAA1598	10	118719667	Missense_Mutation	SNP	C	TCGA-CW-5583-01A-02D-1534-10		118719667	16815080	20	30351											
USP15	9958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	62790158	62790158	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr12:62790158G>C	ENST00000280377.5	+	20	2712	c.2654G>C	c.(2653-2655)gGa>gCa	p.G885A	USP15_ENST00000353364.3_Missense_Mutation_p.G856A|USP15_ENST00000393654.3_Missense_Mutation_p.G860A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	885	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G856A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AACCACTATGGAGGGATGGGA	0.373																																					Melanoma(181;615 2041 39364 49691 50001)											1	Substitution - Missense(1)	kidney(1)											118	108	111					12																	62790158		2203	4300	6503	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2654G>C	12.37:g.62790158G>C	ENSP00000280377:p.Gly885Ala		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132674	0.94517	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654;ENST00000549415	T;T;D;T	0.84730	0.49;0.49;-1.89;0.49	5.47	5.47	0.80525	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.051373	0.85682	D	0.000000	D	0.95118	0.8418	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96048	0.9029	9	.	.	.	-18.354	19.6937	0.96012	0.0:0.0:1.0:0.0	.	885;856	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	A	856;885;860;87	ENSP00000258123:G856A;ENSP00000280377:G885A;ENSP00000377264:G860A;ENSP00000448372:G87A	.	G	+	2	0	USP15	61076425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.720000	0.93068	0.650000	0.86243	GGA		0.373	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		C	62790158	G	C	62790158	3	2	561	1	0	0	0	0	1	0	0	0	17051	1174	41	4	2641	4	USP15	12	62790158	Missense_Mutation	SNP	G	TCGA-CW-5583-01A-02D-1534-10		62790158	71061737	21	30352											
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	105418731	105418731	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr14:105418731delG	ENST00000333244.5	-	7	3176	c.3057delC	c.(3055-3057)gccfs	p.A1019fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1019						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCCACCAAGGCCTTGATGG	0.577																																																0													188	203	198					14																	105418731		1975	4163	6138	SO:0001589	frameshift_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3057delC	14.37:g.105418731delG	ENSP00000353114:p.Ala1019fs		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	37	CCDS45177.1																																																																																				0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		-	105418731	G	-	105418731	7	5	561	1	0	1	0	1	0	0	0	0	415	987	35	0	14334	0	AHNAK2	14	105418731	Frame_Shift_Del	DEL	G	TCGA-CW-5583-01A-02D-1534-10		105418731	1930809	22	30353											
LRRK1	79705	broad.mit.edu;hgsc.bcm.edu	37	15	101606305	101606305	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr15:101606305C>T	ENST00000388948.3	+	32	6022	c.5663C>T	c.(5662-5664)tCc>tTc	p.S1888F	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000284395.5_Missense_Mutation_p.S1885F	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.S1900F(1)|p.S1888F(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGTGCTGCCTCCGACAGGTCT	0.617																																																2	Substitution - Missense(2)	kidney(2)											98	106	104					15																	101606305		2145	4264	6409	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5663C>T	15.37:g.101606305C>T	ENSP00000373600:p.Ser1888Phe			Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852297	0.32699	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.74632	-0.83;-0.86	5.35	5.35	0.76521	.	0.699658	0.14725	N	0.302133	T	0.69160	0.3080	L	0.60455	1.87	0.09310	N	0.999997	B	0.29805	0.257	B	0.24541	0.054	T	0.64807	-0.6320	10	0.66056	D	0.02	.	10.5967	0.45343	0.0:0.8763:0.0:0.1237	.	1888	Q38SD2	LRRK1_HUMAN	F	1888;1885;579;442	ENSP00000373600:S1888F;ENSP00000284395:S1885F	ENSP00000284395:S1885F	S	+	2	0	LRRK1	99423828	0.004000	0.15560	0.034000	0.17996	0.420000	0.31355	1.842000	0.39250	2.492000	0.84095	0.655000	0.94253	TCC		0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		T	101606305	C	T	101606305	3	4	561	1	0	0	0	0	1	0	0	0	9034	855	30	2	5785	2	LRRK1	15	101606305	Missense_Mutation	SNP	C	TCGA-CW-5583-01A-02D-1534-10		101606305	925087	23	30354											
TRAP1	10131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3726076	3726076	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr16:3726076A>G	ENST00000246957.5	-	7	863	c.775T>C	c.(775-777)Tcc>Ccc	p.S259P	TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.S206P|TRAP1_ENST00000575671.1_Missense_Mutation_p.S50P	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	259					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)	p.S259P(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TTGCAGTCGGATTTCAGGTGG	0.577																																																1	Substitution - Missense(1)	kidney(1)											113	109	110					16																	3726076		2197	4300	6497	SO:0001583	missense	10131			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.775T>C	16.37:g.3726076A>G	ENSP00000246957:p.Ser259Pro		B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904399	0.33628	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.76709	-1.04;-1.04	5.32	-3.25	0.05079	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (3);	0.712422	0.13777	N	0.363480	T	0.47691	0.1459	N	0.01649	-0.78	0.26210	N	0.979315	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.38222	-0.9671	10	0.66056	D	0.02	-0.7703	9.7626	0.40541	0.232:0.5587:0.2093:0.0	.	206;259	F5H897;Q12931	.;TRAP1_HUMAN	P	259;206	ENSP00000246957:S259P;ENSP00000442070:S206P	ENSP00000246957:S259P	S	-	1	0	TRAP1	3666077	0.894000	0.30519	0.058000	0.19502	0.820000	0.46376	0.335000	0.19806	-0.849000	0.04158	0.460000	0.39030	TCC		0.577	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		G	3726076	A	G	3726076	3	3	561	1	0	0	0	0	1	0	0	0	16460	333	12	3	1387	3	TRAP1	16	3726076	Missense_Mutation	SNP	A	TCGA-CW-5583-01A-02D-1534-10		3726076	86628677	24	30355											
TMCO7	79613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68953056	68953056	+	Silent	SNP	C	C	A	rs375170838		TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr16:68953056C>A	ENST00000261778.1	+	12	2073	c.2061C>A	c.(2059-2061)acC>acA	p.T687T		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	687						integral component of membrane (GO:0016021)		p.T687T(1)|p.T216T(1)									CAGAGAGCACCGTGGAATCAC	0.527																																																2	Substitution - coding silent(2)	kidney(2)											82	79	80					16																	68953056		2132	4237	6369	SO:0001819	synonymous_variant	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2061C>A	16.37:g.68953056C>A			Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	CCDS45516.1																																																																																				0.527	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		A	68953056	C	A	68953056	2	1	561	1	0	0	0	0	0	0	0	1	16006	639	23	4		4	TMCO7	16	68953056	Silent	SNP	C	TCGA-CW-5583-01A-02D-1534-10	65226980	68953056	21401697	25	30356											
MYH3	4621	hgsc.bcm.edu;ucsc.edu	37	17	10537344	10537344	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr17:10537344delC	ENST00000583535.1	-	32	4599	c.4512delG	c.(4510-4512)aagfs	p.K1504fs	MYH3_ENST00000226209.7_Frame_Shift_Del_p.K1504fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1504					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTCTAAGTTCTTATTTTCCC	0.478																																																0													185	155	165					17																	10537344		2203	4300	6503	SO:0001589	frameshift_variant	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4512delG	17.37:g.10537344delC	ENSP00000464317:p.Lys1504fs		Q15492	Frame_Shift_Del	DEL	ENST00000583535.1	37	CCDS11157.1																																																																																				0.478	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		-	10537344	C	-	10537344	7	5	561	1	0	1	0	1	0	0	0	0	10038	912	32	0	1350	0	MYH3	17	10537344	Frame_Shift_Del	DEL	C	TCGA-CW-5583-01A-02D-1534-10		10537344	70657866	26	30357	221	2									
MYH3	4621	hgsc.bcm.edu;ucsc.edu	37	17	10537346	10537347	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr17:10537346_10537347delTA	ENST00000583535.1	-	32	4596_4597	c.4509_4510delTA	c.(4507-4512)aataagfs	p.N1503fs	MYH3_ENST00000226209.7_Frame_Shift_Del_p.N1503fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1503					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTAAGTTCTTATTTTCCCGTT	0.48																																																0																																										SO:0001589	frameshift_variant	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4509_4510delTA	17.37:g.10537346_10537347delTA	ENSP00000464317:p.Asn1503fs		Q15492	Frame_Shift_Del	DEL	ENST00000583535.1	37	CCDS11157.1																																																																																				0.48	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		-	10537347	TA	-	10537346	7	5	561	1	0	1	0	1	0	0	0	0	10038	1763	61	0	1352	0	MYH3	17	10537346	Frame_Shift_Del	DEL	TA	TCGA-CW-5583-01A-02D-1534-10	2	10537346	70657864	27	30358	221	2									
OSBPL1A	114876	hgsc.bcm.edu;ucsc.edu	37	18	21898718	21898721	+	Frame_Shift_Del	DEL	ACCA	ACCA	-			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	ACCA	ACCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr18:21898718_21898721delACCA	ENST00000319481.3	-	8	884_887	c.678_681delTGGT	c.(676-681)gttggtfs	p.VG226fs	MIR320C2_ENST00000390762.1_RNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	226	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GTACCTTATTACCAACAAGAATGT	0.289																																																0																																										SO:0001589	frameshift_variant	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.678_681delTGGT	18.37:g.21898718_21898721delACCA	ENSP00000320291:p.Val226fs		B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Del	DEL	ENST00000319481.3	37	CCDS11884.1																																																																																				0.289	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		-	21898721	ACCA	-	21898718	7	5	561	1	0	1	0	1	0	0	0	0	11279	378	14	0	2255	0	OSBPL1A	18	21898718	Frame_Shift_Del	DEL	ACCA	TCGA-CW-5583-01A-02D-1534-10		21898718	56178530	28	30359											
ZNF653	115950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11598181	11598181	+	Missense_Mutation	SNP	G	G	A	rs562892839		TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr19:11598181G>A	ENST00000293771.5	-	4	1233	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T366I(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CTCTGTCTGGGTGTAGGCTGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16047	0.0		0.0	False		,,,				2504	0.001				Pancreas(83;980 1446 4542 6441 43352)											1	Substitution - Missense(1)	kidney(1)											60	50	53					19																	11598181		2203	4300	6503	SO:0001583	missense	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1097C>T	19.37:g.11598181G>A	ENSP00000293771:p.Thr366Ile		Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.020116	0.54576	.	.	ENSG00000161914	ENST00000293771	T	0.11821	2.74	4.26	4.26	0.50523	.	0.196730	0.43919	D	0.000520	T	0.21841	0.0526	N	0.24115	0.695	0.35638	D	0.810763	D	0.71674	0.998	P	0.61874	0.895	T	0.26950	-1.0088	10	0.62326	D	0.03	-37.6417	15.8046	0.78483	0.0:0.0:1.0:0.0	.	366	Q96CK0	ZN653_HUMAN	I	366	ENSP00000293771:T366I	ENSP00000293771:T366I	T	-	2	0	ZNF653	11459181	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.021000	0.57196	2.075000	0.62263	0.462000	0.41574	ACC		0.647	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		A	11598181	G	A	11598181	3	1	561	1	0	0	0	0	1	0	0	0	18071	1261	44	2	774	2	ZNF653	19	11598181	Missense_Mutation	SNP	G	TCGA-CW-5583-01A-02D-1534-10		11598181	47530802	29	30360											
NOTCH3	4854	broad.mit.edu;hgsc.bcm.edu	37	19	15290202	15290202	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr19:15290202G>C	ENST00000263388.2	-	21	3508	c.3433C>G	c.(3433-3435)Ctc>Gtc	p.L1145V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1145	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.L1145V(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGGAGCAGAGATAGCGGGCC	0.607																																																2	Substitution - Missense(2)	kidney(2)											85	78	80					19																	15290202		2203	4300	6503	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3433C>G	19.37:g.15290202G>C	ENSP00000263388:p.Leu1145Val		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753123	0.31046	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87179	-2.22	4.3	3.18	0.36537	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.64091	0.2567	N	0.01091	-1.02	0.33501	D	0.589931	B;B	0.21753	0.002;0.06	B;B	0.25987	0.019;0.065	T	0.65537	-0.6144	9	0.20519	T	0.43	.	6.5434	0.22392	0.0:0.1674:0.5104:0.3222	.	1096;1145	Q59FL3;Q9UM47	.;NOTC3_HUMAN	V	1145;1095	ENSP00000263388:L1145V	ENSP00000263388:L1145V	L	-	1	0	NOTCH3	15151202	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.091000	0.50199	1.934000	0.56057	0.561000	0.74099	CTC		0.607	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		C	15290202	G	C	15290202	3	2	561	1	0	0	0	0	1	0	0	0	10552	942	33	4	3584	4	NOTCH3	19	15290202	Missense_Mutation	SNP	G	TCGA-CW-5583-01A-02D-1534-10	3692021	15290202	43838781	30	30361											
GIPR	2696	broad.mit.edu	37	19	46185190	46185190	+	Silent	SNP	C	C	T			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr19:46185190C>T	ENST00000590918.1	+	14	1497	c.1398C>T	c.(1396-1398)tgC>tgT	p.C466C	GIPR_ENST00000304207.8_Silent_p.C430C|GIPR_ENST00000263281.3_3'UTR	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	466					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)	p.C466C(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		AAAGTTACTGCTAGGGGGCGG	0.652																																																1	Substitution - coding silent(1)	kidney(1)											15	16	16					19																	46185190		2148	4179	6327	SO:0001819	synonymous_variant	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.1398C>T	19.37:g.46185190C>T			B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Silent	SNP	ENST00000590918.1	37	CCDS12671.1																																																																																				0.652	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			T	46185190	C	T	46185190	2	4	561	1	0	0	0	0	0	0	0	1	6397	805	28	2		2	GIPR	19	46185190	Silent	SNP	C	TCGA-CW-5583-01A-02D-1534-10	30894988	46185190	12943793	31	30362											
MOCS3	8813	broad.mit.edu	37	20	49575435	49575435	+	5'Flank	DEL	A	A	-			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr20:49575435delA	ENST00000371588.5	-	0	0				DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Frame_Shift_Del_p.E20fs|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CAACGTGAGGAGGAATTGAAT	0.597																																																0													57	56	56					20																	49575435		2191	4276	6467	SO:0001631	upstream_gene_variant	27304			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575435delA	Exception_encountered		O15157|Q6IB78|Q96HK0	Frame_Shift_Del	DEL	ENST00000371588.5	37	CCDS13434.1																																																																																				0.597	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		-	49575435	A	-	49575435	6	5	561	0	1	1	0	1	0	0	0	0	9694	304	11	0		0	MOCS3	20	49575435	5'Flank	DEL	A	TCGA-CW-5583-01A-02D-1534-10		49575435	13450085	32	30363											
MORC2	22880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	31328363	31328363	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chr22:31328363G>C	ENST00000397641.3	-	24	3232	c.2824C>G	c.(2824-2826)Cta>Gta	p.L942V	MORC2_ENST00000215862.4_Missense_Mutation_p.L880V|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	942						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L880V(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AAAGATATTAGCTCATCTGAA	0.463																																																1	Substitution - Missense(1)	kidney(1)											139	127	131					22																	31328363		2203	4300	6503	SO:0001583	missense	22880			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2824C>G	22.37:g.31328363G>C	ENSP00000380763:p.Leu942Val		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.727783|2.727783	0.48833|0.48833	.|.	.|.	ENSG00000133422|ENSG00000133422	ENST00000445980|ENST00000397641;ENST00000215862	.|T;T	.|0.26373	.|1.75;1.74	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.143081	.|0.45606	.|D	.|0.000342	T|T	0.44891|0.44891	0.1315|0.1315	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.78314	.|0.991	T|T	0.31558|0.31558	-0.9939|-0.9939	5|10	.|0.66056	.|D	.|0.02	.|.	10.8587|10.8587	0.46815|0.46815	0.1151:0.0:0.8849:0.0|0.1151:0.0:0.8849:0.0	.|.	.|942	.|Q9Y6X9	.|MORC2_HUMAN	G|V	103|942;880	.|ENSP00000380763:L942V;ENSP00000215862:L880V	.|ENSP00000215862:L880V	A|L	-|-	2|1	0|2	MORC2|MORC2	29658363|29658363	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.987000|0.987000	0.75469|0.75469	2.658000|2.658000	0.46733|0.46733	2.745000|2.745000	0.94114|0.94114	0.655000|0.655000	0.94253|0.94253	GCT|CTA		0.463	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		C	31328363	G	C	31328363	3	2	561	1	0	0	0	0	1	0	0	0	9704	962	34	4	286	4	MORC2	22	31328363	Missense_Mutation	SNP	G	TCGA-CW-5583-01A-02D-1534-10		31328363	19976203	33	30364											
VCX	26609	hgsc.bcm.edu	37	X	7811830	7811859	+	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCGAGGTGGAA	GAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	rs200761534|rs145031736|rs374291810|rs139413469		TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	GAACCACTGAGTCAGGAGAGCGAGGTGGAA	GAACCACTGAGTCAGGAGAGCGAGGTGGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chrX:7811830_7811859delGAACCACTGAGTCAGGAGAGCGAGGTGGAA	ENST00000381059.3	+	3	613_642	c.394_423delGAACCACTGAGTCAGGAGAGCGAGGTGGAA	c.(394-423)gaaccactgagtcaggagagcgaggtggaadel	p.EPLSQESEVE132del	VCX_ENST00000341408.4_Splice_Site_p.ENH119del	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	132	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGA	0.604																																																0																																										SO:0001651	inframe_deletion	26609			AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"variable charge, X chromosome"			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.394_423delGAACCACTGAGTCAGGAGAGCGAGGTGGAA	X.37:g.7811830_7811859delGAACCACTGAGTCAGGAGAGCGAGGTGGAA	ENSP00000370447:p.Glu132_Glu141del		A0JNS5|Q4V774|Q9P0H3	In_Frame_Del	DEL	ENST00000381059.3	37	CCDS14128.1																																																																																				0.604	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452		-	7811859	GAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	7811830	7	5	561	1	0	1	0	1	0	0	0	0	17147	1175	41	0	400	0	VCX	23	7811830	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCGAGGTGGAA	TCGA-CW-5583-01A-02D-1534-10		7811830	147458730	34	30365											
TFDP3	51270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	132351243	132351243	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-5583-01A-02D-1534-10	TCGA-CW-5583-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2cb6b578-8543-4a12-8331-1721ddc47303	1e656287-a1d9-4273-bbd2-c4909d29366d	g.chrX:132351243T>G	ENST00000310125.4	-	1	1133	c.1045A>C	c.(1045-1047)Aat>Cat	p.N349H		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	349					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N349H(1)|p.N289H(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CACGTGCCATTAGACCTGGAA	0.552																																																2	Substitution - Missense(2)	kidney(2)											101	101	101					X																	132351243		2201	4300	6501	SO:0001583	missense	51270			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.1045A>C	X.37:g.132351243T>G	ENSP00000385461:p.Asn349His		Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634434	0.29068	.	.	ENSG00000183434	ENST00000310125	T	0.25414	1.8	1.03	-0.239	0.13050	.	.	.	.	.	T	0.21468	0.0517	L	0.57536	1.79	0.26596	N	0.973108	B	0.18310	0.027	B	0.14023	0.01	T	0.31475	-0.9942	9	0.66056	D	0.02	.	3.6921	0.08350	0.0:0.3061:0.0:0.6939	.	349	Q5H9I0	TFDP3_HUMAN	H	349	ENSP00000385461:N349H	ENSP00000385461:N349H	N	-	1	0	TFDP3	132178909	0.027000	0.19231	0.009000	0.14445	0.008000	0.06430	0.650000	0.24858	0.245000	0.21373	0.242000	0.17961	AAT		0.552	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		G	132351243	T	G	132351243	3	3	561	1	0	0	0	0	1	0	0	0	15804	1754	61	5	176	5	TFDP3	23	132351243	Missense_Mutation	SNP	T	TCGA-CW-5583-01A-02D-1534-10	124539413	132351243	22919317	35	30366											
UBXN11	91544	broad.mit.edu;ucsc.edu	37	1	26609138	26609138	+	Splice_Site	SNP	A	A	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr1:26609138A>C	ENST00000374222.1	-	15	1757		c.e15+1		UBXN11_ENST00000357089.4_Splice_Site|UBXN11_ENST00000374223.1_Splice_Site|UBXN11_ENST00000374217.2_Splice_Site|UBXN11_ENST00000314675.7_Splice_Site|UBXN11_ENST00000374221.3_Splice_Site			Q5T124	UBX11_HUMAN	UBX domain protein 11							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.?(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CCCTGCACCCACCTGGCCTGC	0.632																																																1	Unknown(1)	kidney(1)											63	71	68					1																	26609138		2045	4190	6235	SO:0001630	splice_region_variant	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1292+1T>G	1.37:g.26609138A>C			D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Splice_Site	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.170741	0.38315	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	.	.	.	4.99	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0215	0.30412	0.9078:0.0:0.0922:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBXN11	26481725	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.033000	0.64146	1.872000	0.54250	0.459000	0.35465	.		0.632	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345	Intron	C	26609138	A	C	26609138	5	2	562	1	0	0	0	0	0	0	1	0	16918	173	6	5	276	5	UBXN11	1	26609138	Splice_Site	SNP	A	TCGA-CW-5585-01A-01D-1534-10		26609138	222641483	1	30367											
WARS2	10352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	119575670	119575670	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr1:119575670G>C	ENST00000235521.4	-	6	973	c.947C>G	c.(946-948)cCa>cGa	p.P316R	WARS2_ENST00000537870.1_Missense_Mutation_p.P222R|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	316					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.P316R(1)|p.P316Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACGCTTAATTGGGGCAAACTT	0.498																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											126	128	127					1																	119575670		2203	4300	6503	SO:0001583	missense	10352			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.947C>G	1.37:g.119575670G>C	ENSP00000235521:p.Pro316Arg		B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	CCDS900.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900275	0.92035	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.35605	1.3;1.3	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.98	T	0.79992	-0.1569	10	0.87932	D	0	-10.0308	20.422	0.99049	0.0:0.0:1.0:0.0	.	259;316	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	R	316;222	ENSP00000235521:P316R;ENSP00000438807:P222R	ENSP00000235521:P316R	P	-	2	0	WARS2	119377193	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	9.466000	0.97665	2.832000	0.97577	0.655000	0.94253	CCA		0.498	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		C	119575670	G	C	119575670	3	2	562	1	0	0	0	0	1	0	0	0	17255	1348	47	4	139	4	WARS2	1	119575670	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10	92966532	119575670	129674951	2	30368											
THBS3	7059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155169611	155169612	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr1:155169611_155169612delCA	ENST00000368378.3	-	16	1883_1884	c.1863_1864delTG	c.(1861-1866)tgtgatfs	p.CD621fs	RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541576.1_Frame_Shift_Del_p.CD18fs|THBS3_ENST00000541990.1_Frame_Shift_Del_p.CD150fs|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000457183.2_Frame_Shift_Del_p.CD501fs|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	621					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCATTAGTATCACAGACATCCC	0.49																																																0																																										SO:0001589	frameshift_variant	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1863_1864delTG	1.37:g.155169613_155169614delCA	ENSP00000357362:p.Cys621fs		B1AVR8|B4DQ20|Q8WV34	Frame_Shift_Del	DEL	ENST00000368378.3	37	CCDS1099.1																																																																																				0.49	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		-	155169612	CA	-	155169611	7	5	562	1	0	1	0	1	0	0	0	0	15860	826	29	0	1038	0	THBS3	1	155169611	Frame_Shift_Del	DEL	CA	TCGA-CW-5585-01A-01D-1534-10	35593941	155169611	94081010	3	30369											
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61575328	61575328	+	Silent	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:61575328G>A	ENST00000398571.2	-	15	2038	c.1962C>T	c.(1960-1962)tgC>tgT	p.C654C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	654					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.C654C(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGTCCCCCAGGCAAATGCCTG	0.448																																																1	Substitution - coding silent(1)	kidney(1)											65	61	62					2																	61575328		1911	4118	6029	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1962C>T	2.37:g.61575328G>A			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1																																																																																				0.448	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			A	61575328	G	A	61575328	2	1	562	1	0	0	0	0	0	0	0	1	17070	1195	42	2		2	USP34	2	61575328	Silent	SNP	G	TCGA-CW-5585-01A-01D-1534-10		61575328	181624045	4	30370											
AFF3	3899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	100623119	100623119	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:100623119delT	ENST00000409236.2	-	5	960	c.848delA	c.(847-849)aagfs	p.K283fs	AFF3_ENST00000356421.2_Frame_Shift_Del_p.K308fs|AFF3_ENST00000409579.1_Frame_Shift_Del_p.K308fs|AFF3_ENST00000317233.4_Frame_Shift_Del_p.K283fs			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	283					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATGCTGAACTTGGAGAGCTT	0.532																																																0													55	59	58					2																	100623119		2203	4300	6503	SO:0001589	frameshift_variant	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.848delA	2.37:g.100623119delT	ENSP00000387207:p.Lys283fs		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Frame_Shift_Del	DEL	ENST00000409236.2	37	CCDS42723.1																																																																																				0.532	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		-	100623119	T	-	100623119	7	5	562	1	0	1	0	1	0	0	0	0	358	1609	56	0	2908	0	AFF3	2	100623119	Frame_Shift_Del	DEL	T	TCGA-CW-5585-01A-01D-1534-10	39047791	100623119	142576254	5	30371											
RBM43	375287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152107578	152107581	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	TCTC	TCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:152107578_152107581delTCTC	ENST00000331426.5	-	4	1064_1067	c.913_916delGAGA	c.(913-918)gagaaafs	p.EK305fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	305							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATCATTCTTTTCTCTCTATTTTCC	0.343																																																0																																										SO:0001589	frameshift_variant	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"RNA binding motif (RRM) containing"	24790	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 38"	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.913_916delGAGA	2.37:g.152107578_152107581delTCTC	ENSP00000331211:p.Glu305fs		B2RMT5	Frame_Shift_Del	DEL	ENST00000331426.5	37	CCDS2191.1																																																																																				0.343	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		-	152107581	TCTC	-	152107578	7	5	562	1	0	1	0	1	0	0	0	0	13143	1792	62	0	161	0	RBM43	2	152107578	Frame_Shift_Del	DEL	TCTC	TCGA-CW-5585-01A-01D-1534-10	51484459	152107578	91091795	6	30372											
SCN3A	6328	broad.mit.edu;ucsc.edu	37	2	165946947	165946947	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:165946947T>C	ENST00000360093.3	-	28	6207	c.5716A>G	c.(5716-5718)Atc>Gtc	p.I1906V	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1857V|SCN3A_ENST00000540861.1_Missense_Mutation_p.I389V|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1906V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1906	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1906V(1)|p.I1857V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGCTGAATGATAGCGGCAGAC	0.373																																																2	Substitution - Missense(2)	kidney(2)											76	72	73					2																	165946947		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5716A>G	2.37:g.165946947T>C	ENSP00000353206:p.Ile1906Val		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	0.015	-1.558262	0.00910	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.96522	-3.78;-3.78;-3.73;-4.04	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000004	D	0.91112	0.7202	N	0.05259	-0.085	0.35088	D	0.764041	B;P;B	0.41498	0.0;0.752;0.07	B;P;B	0.50970	0.001;0.655;0.023	D	0.89592	0.3828	10	0.02654	T	1	.	8.5415	0.33395	0.0:0.1433:0.0:0.8567	.	1857;1857;1906	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	V	1906;1906;1857;389	ENSP00000353206:I1906V;ENSP00000283254:I1906V;ENSP00000386726:I1857V;ENSP00000439920:I389V	ENSP00000283254:I1906V	I	-	1	0	SCN3A	165655193	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.083000	0.30815	2.225000	0.72522	0.533000	0.62120	ATC		0.373	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		C	165946947	T	C	165946947	3	2	562	1	0	0	0	0	1	0	0	0	13924	1406	49	3	290	3	SCN3A	2	165946947	Missense_Mutation	SNP	T	TCGA-CW-5585-01A-01D-1534-10	13839369	165946947	77252426	7	30373											
OSBPL6	114880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179255817	179255817	+	Silent	SNP	T	T	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:179255817T>G	ENST00000190611.4	+	22	2695	c.2319T>G	c.(2317-2319)tcT>tcG	p.S773S	OSBPL6_ENST00000359685.3_Silent_p.S737S|OSBPL6_ENST00000315022.2_Silent_p.S777S|OSBPL6_ENST00000409045.3_Silent_p.S742S|OSBPL6_ENST00000409631.1_Silent_p.S737S|OSBPL6_ENST00000392505.2_Silent_p.S798S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	773					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.S798S(1)|p.S773S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTGGAATTCTAACATGAATG	0.428																																																2	Substitution - coding silent(2)	kidney(2)											130	128	128					2																	179255817		2203	4300	6503	SO:0001819	synonymous_variant	114880			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2319T>G	2.37:g.179255817T>G			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	CCDS2277.1																																																																																				0.428	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		G	179255817	T	G	179255817	2	3	562	1	0	0	0	0	0	0	0	1	11283	1509	53	5		5	OSBPL6	2	179255817	Silent	SNP	T	TCGA-CW-5585-01A-01D-1534-10	13308870	179255817	63943556	8	30374											
ABCA12	26154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	215839587	215839587	+	Splice_Site	SNP	T	T	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:215839587T>A	ENST00000272895.7	-	35	5602	c.5383A>T	c.(5383-5385)Aat>Tat	p.N1795Y	ABCA12_ENST00000389661.4_Splice_Site_p.N1477Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1795					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.N1795Y(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGTGATAATTACTGCAATAT	0.398																																					Ovarian(66;664 1488 5121 34295)											1	Substitution - Missense(1)	kidney(1)											126	127	127					2																	215839587		2203	4300	6503	SO:0001630	splice_region_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5382-1A>T	2.37:g.215839587T>A			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579686	0.46006	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.91180	-2.8;-2.78	5.7	5.7	0.88788	.	0.077794	0.53938	N	0.000042	D	0.93933	0.8058	M	0.63843	1.955	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.69307	0.963;0.939	D	0.94377	0.7601	10	0.72032	D	0.01	.	14.2213	0.65828	0.0:0.0:0.0:1.0	.	1795;1477	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	1795;1477	ENSP00000272895:N1795Y;ENSP00000374312:N1477Y	ENSP00000272895:N1795Y	N	-	1	0	ABCA12	215547832	1.000000	0.71417	0.994000	0.49952	0.086000	0.17979	5.832000	0.69337	2.185000	0.69588	0.528000	0.53228	AAT		0.398	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Missense_Mutation	A	215839587	T	A	215839587	5	1	562	1	0	0	0	0	0	0	1	0	30	1768	61	5	2480	5	ABCA12	2	215839587	Splice_Site	SNP	T	TCGA-CW-5585-01A-01D-1534-10	36583770	215839587	27359786	9	30375											
APPL1	26060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	57291081	57291081	+	Splice_Site	SNP	T	T	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr3:57291081T>A	ENST00000288266.3	+	14	1394		c.e14+2			NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.?(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGCAGCAGGGTAAGTTACCAC	0.448																																																1	Unknown(1)	kidney(1)											51	55	54					3																	57291081		2203	4300	6503	SO:0001630	splice_region_variant	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1247+2T>A	3.37:g.57291081T>A			Q9P2B9	Splice_Site	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923367	0.52653	.	.	ENSG00000157500	ENST00000288266	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1931	0.65652	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	APPL1	57266121	1.000000	0.71417	0.951000	0.38953	0.003000	0.03518	2.386000	0.44380	2.102000	0.63906	0.533000	0.62120	.		0.448	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	Intron	A	57291081	T	A	57291081	5	1	562	1	0	0	0	0	0	0	1	0	817	1652	57	5	1303	5	APPL1	3	57291081	Splice_Site	SNP	T	TCGA-CW-5585-01A-01D-1534-10		57291081	140731349	10	30376											
UBA5	79876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132389115	132389115	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr3:132389115A>G	ENST00000356232.4	+	5	1553	c.481A>G	c.(481-483)Atg>Gtg	p.M161V	UBA5_ENST00000264991.4_Missense_Mutation_p.M105V|UBA5_ENST00000494238.2_Missense_Mutation_p.M105V|UBA5_ENST00000473651.1_Missense_Mutation_p.M161V|UBA5_ENST00000493720.2_Missense_Mutation_p.M161V	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	161					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)	p.M161V(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCAACATTTCATGGATAGAAT	0.259																																																1	Substitution - Missense(1)	kidney(1)											32	32	32					3																	132389115		2191	4292	6483	SO:0001583	missense	79876			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.481A>G	3.37:g.132389115A>G	ENSP00000348565:p.Met161Val		A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.559674	0.27827	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000473651;ENST00000494238;ENST00000464068;ENST00000489361	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.36	5.36	0.76844	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	N	0.03177	-0.4	0.80722	D	1	B;B	0.25772	0.051;0.134	B;B	0.21151	0.019;0.033	T	0.17471	-1.0368	10	0.12766	T	0.61	-20.7024	15.3489	0.74368	1.0:0.0:0.0:0.0	.	161;161	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	V	105;161;161;161;105;71;105	ENSP00000264991:M105V;ENSP00000348565:M161V;ENSP00000417879:M161V;ENSP00000424984:M161V;ENSP00000418807:M105V;ENSP00000420055:M71V;ENSP00000417905:M105V	ENSP00000264991:M105V	M	+	1	0	UBA5	133871805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.214000	0.77958	2.039000	0.60335	0.528000	0.53228	ATG		0.259	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		G	132389115	A	G	132389115	3	3	562	1	0	0	0	0	1	0	0	0	16835	217	8	3	499	3	UBA5	3	132389115	Missense_Mutation	SNP	A	TCGA-CW-5585-01A-01D-1534-10	75098034	132389115	65633315	11	30377											
CPB1	1360	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	148559631	148559631	+	Nonsense_Mutation	SNP	A	A	T	rs367547720		TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr3:148559631A>T	ENST00000491148.1	+	7	830	c.496A>T	c.(496-498)Aag>Tag	p.K166*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.K166*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	166						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K166*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGGACAAAATAAGCCTGCCAT	0.458																																																1	Substitution - Nonsense(1)	kidney(1)											161	150	154					3																	148559631		2203	4300	6503	SO:0001587	stop_gained	1360			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.496A>T	3.37:g.148559631A>T	ENSP00000417222:p.Lys166*		O60834|Q53XJ0|Q96BQ8	Nonsense_Mutation	SNP	ENST00000491148.1	37	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.269454	0.59540	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5066	0.75745	1.0:0.0:0.0:0.0	.	.	.	.	X	166;166;132	.	ENSP00000282957:K166X	K	+	1	0	CPB1	150042321	1.000000	0.71417	0.958000	0.39756	0.785000	0.44390	6.739000	0.74827	2.136000	0.66102	0.533000	0.62120	AAG		0.458	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		T	148559631	A	T	148559631	4	4	562	1	0	0	0	0	0	1	0	0	3798	363	13	5	518	5	CPB1	3	148559631	Nonsense_Mutation	SNP	A	TCGA-CW-5585-01A-01D-1534-10	16170516	148559631	49462799	12	30378											
KLHL24	54800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	183390233	183390233	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr3:183390233A>C	ENST00000454652.2	+	8	1949	c.1563A>C	c.(1561-1563)gaA>gaC	p.E521D	KLHL24_ENST00000242810.6_Missense_Mutation_p.E521D|KLHL24_ENST00000476808.1_Missense_Mutation_p.E521D	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	521						cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.E521D(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ATCCAGTTGAAGATTACTGGA	0.393																																																1	Substitution - Missense(1)	kidney(1)											88	70	76					3																	183390233		2203	4300	6503	SO:0001583	missense	54800				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1563A>C	3.37:g.183390233A>C	ENSP00000395012:p.Glu521Asp		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702711	0.48307	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.78364	-1.17;-1.17;-1.17	5.9	2.28	0.28536	Galactose oxidase, beta-propeller (1);	0.191364	0.47852	D	0.000204	T	0.65069	0.2656	N	0.25485	0.75	0.50313	D	0.999866	B;B	0.28636	0.218;0.077	B;B	0.33121	0.06;0.158	T	0.56141	-0.8028	10	0.41790	T	0.15	.	9.2076	0.37298	0.5689:0.0:0.4311:0.0	.	521;521	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	D	521	ENSP00000242810:E521D;ENSP00000395012:E521D;ENSP00000419010:E521D	ENSP00000242810:E521D	E	+	3	2	KLHL24	184872927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.079000	0.30766	0.151000	0.19162	0.528000	0.53228	GAA		0.393	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		C	183390233	A	C	183390233	3	2	562	1	0	0	0	0	1	0	0	0	8381	69	3	5	1581	5	KLHL24	3	183390233	Missense_Mutation	SNP	A	TCGA-CW-5585-01A-01D-1534-10	34830602	183390233	14632197	13	30379											
PDGFRA	5156	broad.mit.edu	37	4	55156677	55156677	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr4:55156677C>A	ENST00000257290.5	+	22	3409	c.3078C>A	c.(3076-3078)gaC>gaA	p.D1026E	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D786E	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1026					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D1026E(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTGACATTGACCCTGTCCCTG	0.572			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	1	Substitution - Missense(1)	kidney(1)											146	126	133					4																	55156677		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3078C>A	4.37:g.55156677C>A	ENSP00000257290:p.Asp1026Glu		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798292	0.31777	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.76060	-0.99;-0.81	5.93	4.1	0.47936	.	0.000000	0.33813	U	0.004525	T	0.50360	0.1611	N	0.17474	0.49	0.80722	D	1	B	0.21606	0.058	B	0.17098	0.017	T	0.42172	-0.9467	10	0.06099	T	0.92	.	6.9735	0.24662	0.1419:0.7164:0.0:0.1417	.	1026	P16234	PGFRA_HUMAN	E	786;1026	ENSP00000423325:D786E;ENSP00000257290:D1026E	ENSP00000423325:D786E	D	+	3	2	FIP1L1;PDGFRA	54851434	0.985000	0.35326	1.000000	0.80357	0.355000	0.29361	0.252000	0.18278	1.506000	0.48736	0.563000	0.77884	GAC		0.572	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		A	55156677	C	A	55156677	3	1	562	1	0	0	0	0	1	0	0	0	11663	506	18	4	3160	4	PDGFRA	4	55156677	Missense_Mutation	SNP	C	TCGA-CW-5585-01A-01D-1534-10		55156677	135997599	14	30380											
POLR2B	5431	broad.mit.edu;ucsc.edu	37	4	57887152	57887152	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr4:57887152G>A	ENST00000381227.1	+	18	2824	c.2411G>A	c.(2410-2412)gGc>gAc	p.G804D	POLR2B_ENST00000431623.2_Missense_Mutation_p.G729D|POLR2B_ENST00000441246.2_Missense_Mutation_p.G797D|POLR2B_ENST00000314595.5_Missense_Mutation_p.G804D			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	804					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.G804D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GTAGACCGCGGCTTCTTCAGG	0.353																																																1	Substitution - Missense(1)	kidney(1)											104	96	98					4																	57887152		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2411G>A	4.37:g.57887152G>A	ENSP00000370625:p.Gly804Asp		A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607608	0.66558	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.64	5.64	0.86602	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.104089	0.64402	D	0.000003	T	0.81432	0.4821	M	0.64630	1.985	0.80722	D	1	D;D	0.89917	0.975;1.0	D;D	0.97110	0.949;1.0	T	0.82655	-0.0350	10	0.87932	D	0	.	12.9666	0.58488	0.0737:0.0:0.9263:0.0	.	729;804	C9J4M6;P30876	.;RPB2_HUMAN	D	804;729;797;804	ENSP00000370625:G804D;ENSP00000391096:G729D;ENSP00000391452:G797D;ENSP00000312735:G804D	ENSP00000312735:G804D	G	+	2	0	POLR2B	57581909	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	9.731000	0.98807	2.657000	0.90304	0.655000	0.94253	GGC		0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		A	57887152	G	A	57887152	3	1	562	1	0	0	0	0	1	0	0	0	12217	1203	42	2	2477	2	POLR2B	4	57887152	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10	2730475	57887152	133267124	15	30381											
DDIT4L	115265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	101108875	101108875	+	Missense_Mutation	SNP	G	G	C	rs58706659	byFrequency	TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr4:101108875G>C	ENST00000273990.2	-	3	755	c.541C>G	c.(541-543)Ctt>Gtt	p.L181V	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	181					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)		p.L181V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		AGTGAGTAAAGTTTTTTCTTA	0.378																																																1	Substitution - Missense(1)	kidney(1)											58	64	62					4																	101108875		2203	4300	6503	SO:0001583	missense	115265			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"regulated in development and DNA damage response 2", " similar to Smhs1 protein"	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.541C>G	4.37:g.101108875G>C	ENSP00000354830:p.Leu181Val		B2R7C3	Missense_Mutation	SNP	ENST00000273990.2	37	CCDS34036.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886008	0.72410	.	.	ENSG00000145358	ENST00000273990	T	0.63580	-0.05	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.77130	0.4085	M	0.79475	2.455	0.45594	D	0.998533	D	0.76494	0.999	D	0.85130	0.997	T	0.79135	-0.1928	10	0.87932	D	0	-13.8016	9.2293	0.37428	0.153:0.0:0.847:0.0	.	181	Q96D03	DDT4L_HUMAN	V	181	ENSP00000354830:L181V	ENSP00000354830:L181V	L	-	1	0	DDIT4L	101327898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.353000	0.52247	2.824000	0.97209	0.655000	0.94253	CTT		0.378	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244		C	101108875	G	C	101108875	3	2	562	1	0	0	0	0	1	0	0	0	4334	1029	36	4	44	4	DDIT4L	4	101108875	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10	43221723	101108875	90045401	16	30382											
VCAN	1462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	82834255	82834255	+	Silent	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr5:82834255T>C	ENST00000265077.3	+	8	5998	c.5433T>C	c.(5431-5433)agT>agC	p.S1811S	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.S824S|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1811	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.S1811S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGCACAGCAGTATCCATCAAC	0.507																																																1	Substitution - coding silent(1)	kidney(1)											58	64	62					5																	82834255		2203	4300	6503	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5433T>C	5.37:g.82834255T>C			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.507	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		C	82834255	T	C	82834255	2	2	562	1	0	0	0	0	0	0	0	1	17143	1635	57	3		3	VCAN	5	82834255	Silent	SNP	T	TCGA-CW-5585-01A-01D-1534-10		82834255	98081005	17	30383											
PRPS1L1	221823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	18066846	18066846	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr7:18066846A>G	ENST00000506618.2	-	1	640	c.560T>C	c.(559-561)gTg>gCg	p.V187A		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	187					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.V187A(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGCAAAGTCCACATTCAACTG	0.453																																																2	Substitution - Missense(2)	kidney(2)											112	108	109					7																	18066846		2203	4300	6503	SO:0001583	missense	221823			M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.560T>C	7.37:g.18066846A>G	ENSP00000424595:p.Val187Ala		Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353593	0.41700	.	.	ENSG00000229937	ENST00000506618	D	0.90732	-2.72	4.62	4.62	0.57501	Phosphoribosyltransferase (1);	.	.	.	.	D	0.83732	0.5318	L	0.28014	0.82	.	.	.	B	0.14012	0.009	B	0.24269	0.052	T	0.81254	-0.1016	8	0.16420	T	0.52	.	12.3001	0.54870	1.0:0.0:0.0:0.0	.	187	P21108	PRPS3_HUMAN	A	187	ENSP00000424595:V187A	ENSP00000424595:V187A	V	-	2	0	PRPS1L1	18033371	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.441000	0.90313	2.077000	0.62373	0.528000	0.53228	GTG		0.453	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		G	18066846	A	G	18066846	3	3	562	1	0	0	0	0	1	0	0	0	12584	159	6	3	400	3	PRPS1L1	7	18066846	Missense_Mutation	SNP	A	TCGA-CW-5585-01A-01D-1534-10		18066846	141071817	18	30384											
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48312610	48312610	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr7:48312610A>G	ENST00000435803.1	+	17	3371	c.3347A>G	c.(3346-3348)gAg>gGg	p.E1116G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1116					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1061G(1)|p.E1116G(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAACAAGTGAGGAGTCTTCA	0.348																																																2	Substitution - Missense(2)	kidney(2)											55	54	55					7																	48312610		1824	4077	5901	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3347A>G	7.37:g.48312610A>G	ENSP00000411096:p.Glu1116Gly		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	3.201	-0.163778	0.06502	.	.	ENSG00000179869	ENST00000435803	D	0.85484	-1.99	5.48	-4.02	0.04034	.	2.307080	0.01722	N	0.028322	T	0.70937	0.3281	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54377	-0.8303	9	.	.	.	.	2.0211	0.03509	0.5122:0.1041:0.2317:0.1519	.	1116	Q86UQ4	ABCAD_HUMAN	G	1116	ENSP00000411096:E1116G	.	E	+	2	0	ABCA13	48283156	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.362000	0.07602	-0.275000	0.09219	-0.256000	0.11100	GAG		0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		G	48312610	A	G	48312610	3	3	562	1	0	0	0	0	1	0	0	0	31	304	11	3	3242	3	ABCA13	7	48312610	Missense_Mutation	SNP	A	TCGA-CW-5585-01A-01D-1534-10	30245764	48312610	110826053	19	30385											
PRUNE2	158471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79318764	79318764	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr9:79318764T>C	ENST00000376718.3	-	9	7888	c.7765A>G	c.(7765-7767)Act>Gct	p.T2589A	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T2230A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2589					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.T2589A(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCTAACTGAGTTCCCTGCAGC	0.423																																																1	Substitution - Missense(1)	kidney(1)											124	115	118					9																	79318764		1568	3582	5150	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7765A>G	9.37:g.79318764T>C	ENSP00000365908:p.Thr2589Ala		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.618|7.618	0.676137|0.676137	0.14841|0.14841	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.46451	.|0.87;0.87	5.76|5.76	3.1|3.1	0.35709|0.35709	.|.	.|0.777662	.|0.11834	.|N	.|0.524917	T|T	0.45558|0.45558	0.1348|0.1348	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|P;P	.|0.48089	.|0.885;0.905	.|P;B	.|0.48189	.|0.57;0.444	T|T	0.23691|0.23691	-1.0181|-1.0181	5|10	.|0.37606	.|T	.|0.19	-7.6994|-7.6994	8.0679|8.0679	0.30672|0.30672	0.0:0.2347:0.0:0.7653|0.0:0.2347:0.0:0.7653	.|.	.|2589;2589	.|Q8WUY3-3;Q8WUY3	.|.;PRUN2_HUMAN	S|A	1910|2589;2230;2588	.|ENSP00000365908:T2589A;ENSP00000397425:T2230A	.|ENSP00000365908:T2589A	N|T	-|-	2|1	0|0	PRUNE2|PRUNE2	78508584|78508584	0.001000|0.001000	0.12720|0.12720	0.046000|0.046000	0.18839|0.18839	0.136000|0.136000	0.21042|0.21042	0.525000|0.525000	0.22956|0.22956	1.019000|1.019000	0.39547|0.39547	0.482000|0.482000	0.46254|0.46254	AAC|ACT		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79318764	T	C	79318764	3	2	562	1	0	0	0	0	1	0	0	0	12646	1725	60	3	1545	3	PRUNE2	9	79318764	Missense_Mutation	SNP	T	TCGA-CW-5585-01A-01D-1534-10		79318764	61894667	20	30386											
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113169878	113169878	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr9:113169878G>C	ENST00000401783.2	-	38	8338	c.8002C>G	c.(8002-8004)Cct>Gct	p.P2668A	SVEP1_ENST00000374469.1_Missense_Mutation_p.P2645A|SVEP1_ENST00000297826.5_Missense_Mutation_p.P594A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2668	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.P2671A(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGTGTAGCAGGAGACTCCTTT	0.453																																																1	Substitution - Missense(1)	kidney(1)											189	186	187					9																	113169878		1893	4120	6013	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8002C>G	9.37:g.113169878G>C	ENSP00000384917:p.Pro2668Ala		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	0.592	-0.832471	0.02713	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.75367	-0.92;-0.93;-0.45	5.55	-1.13	0.09775	Complement control module (1);Sushi/SCR/CCP (3);	0.912598	0.09600	N	0.780325	T	0.54598	0.1868	L	0.48642	1.525	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.40683	-0.9550	10	0.05436	T	0.98	.	0.2043	0.00149	0.2389:0.1927:0.2344:0.3339	.	2668	Q4LDE5	SVEP1_HUMAN	A	2668;2645;594;340	ENSP00000384917:P2668A;ENSP00000363593:P2645A;ENSP00000297826:P594A	ENSP00000297826:P594A	P	-	1	0	SVEP1	112209699	0.003000	0.15002	0.047000	0.18901	0.202000	0.24057	0.048000	0.14078	0.047000	0.15862	-0.238000	0.12139	CCT		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	113169878	G	C	113169878	3	2	562	1	0	0	0	0	1	0	0	0	15425	1174	41	4	2757	4	SVEP1	9	113169878	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10	33851114	113169878	28043553	21	30387											
KIAA0368	23392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	114132845	114132845	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr9:114132845A>T	ENST00000338205.5	-	44	5063	c.4844T>A	c.(4843-4845)cTg>cAg	p.L1615Q	KIAA0368_ENST00000259335.4_Missense_Mutation_p.L1793Q|KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000374378.3_Missense_Mutation_p.L79Q			Q5VYK3	ECM29_HUMAN	KIAA0368	1621					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.L1793Q(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACATTCCTTCAGAACAGCTTG	0.423																																																1	Substitution - Missense(1)	kidney(1)											66	62	63					9																	114132845		1901	4109	6010	SO:0001583	missense	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4844T>A	9.37:g.114132845A>T	ENSP00000339889:p.Leu1615Gln		O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	A	25.4	4.635223	0.87760	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000374383;ENST00000543827;ENST00000374378	T;T	0.70045	-0.45;-0.45	5.79	5.79	0.91817	.	0.080850	0.51477	D	0.000085	T	0.79644	0.4481	M	0.72894	2.215	0.53005	D	0.999967	D	0.65815	0.995	D	0.64042	0.921	T	0.79921	-0.1599	10	0.45353	T	0.12	.	16.1249	0.81386	1.0:0.0:0.0:0.0	.	1090	B3KXF2	.	Q	1615;1793;79;1090;79	ENSP00000259335:L1793Q;ENSP00000363499:L79Q	ENSP00000259335:L1793Q	L	-	2	0	KIAA0368	113172666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.666000	0.91149	2.208000	0.71279	0.533000	0.62120	CTG		0.423	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		T	114132845	A	T	114132845	3	4	562	1	0	0	0	0	1	0	0	0	8173	188	7	5	699	5	KIAA0368	9	114132845	Missense_Mutation	SNP	A	TCGA-CW-5585-01A-01D-1534-10	962967	114132845	27080586	22	30388											
ODF2	4957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131256871	131256871	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr9:131256871A>G	ENST00000434106.3	+	17	2198	c.1835A>G	c.(1834-1836)gAg>gGg	p.E612G	ODF2_ENST00000546203.1_Missense_Mutation_p.E593G|ODF2_ENST00000444119.2_Missense_Mutation_p.E588G|ODF2_ENST00000604420.1_Missense_Mutation_p.E612G|ODF2_ENST00000372791.3_Missense_Mutation_p.E593G|ODF2_ENST00000351030.3_Missense_Mutation_p.E607G|ODF2_ENST00000372807.5_Missense_Mutation_p.E607G|ODF2_ENST00000393533.2_Missense_Mutation_p.E612G|ODF2_ENST00000372814.3_Missense_Mutation_p.E656G|ODF2_ENST00000393527.3_Missense_Mutation_p.E588G|ODF2_ENST00000448249.3_Missense_Mutation_p.E531G	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	612					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.E588G(1)|p.E656G(1)|p.E612G(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AAGCTGGCTGAGTGCCAAGAC	0.577																																																3	Substitution - Missense(3)	kidney(3)											75	65	68					9																	131256871		2203	4300	6503	SO:0001583	missense	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1835A>G	9.37:g.131256871A>G	ENSP00000403453:p.Glu612Gly		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593315	0.66219	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;D;D;D;D;T;T	0.86865	1.05;-2.18;-2.02;-2.02;-2.02;-2.18;1.08;1.09	5.4	5.4	0.78164	.	0.048281	0.85682	D	0.000000	D	0.90310	0.6969	M	0.73217	2.22	0.80722	D	1	P;P;B;P;P;P;P	0.52842	0.759;0.915;0.383;0.902;0.759;0.956;0.95	B;P;B;P;B;P;P	0.55824	0.256;0.662;0.116;0.462;0.256;0.785;0.662	D	0.90660	0.4589	10	0.56958	D	0.05	-27.7591	11.069	0.47993	0.8614:0.0:0.0:0.1386	.	593;607;531;612;593;612;588	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;ODFP2_HUMAN;.	G	612;656;607;612;588;531;593;593	ENSP00000377166:E612G;ENSP00000361901:E656G;ENSP00000342581:E607G;ENSP00000361882:E612G;ENSP00000307781:E588G;ENSP00000396687:E531G;ENSP00000437579:E593G;ENSP00000361877:E593G	ENSP00000307781:E588G	E	+	2	0	ODF2	130296692	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.478000	0.60230	2.047000	0.60756	0.459000	0.35465	GAG		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			G	131256871	A	G	131256871	3	3	562	1	0	0	0	0	1	0	0	0	10829	304	11	3	1952	3	ODF2	9	131256871	Missense_Mutation	SNP	A	TCGA-CW-5585-01A-01D-1534-10	17124026	131256871	9956560	23	30389											
PDSS1	23590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26994248	26994248	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr10:26994248C>A	ENST00000376215.5	+	4	314	c.261C>A	c.(259-261)caC>caA	p.H87Q	PDSS1_ENST00000376203.5_Missense_Mutation_p.H87Q	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	87					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.H87Q(1)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GTAAAACACACAGTGGTGAAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											79	73	75					10																	26994248		2203	4300	6503	SO:0001583	missense	23590			AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"coenzyme Q1 homolog (yeast)"	607429	"trans-prenyltransferase"	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.261C>A	10.37:g.26994248C>A	ENSP00000365388:p.His87Gln		Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	C	6.443	0.449969	0.12223	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	D	0.81739	-1.53	5.33	2.43	0.29744	Terpenoid synthase (1);	0.618333	0.17376	N	0.176497	T	0.57388	0.2050	N	0.12182	0.205	0.35206	D	0.774725	B;B	0.15473	0.013;0.001	B;B	0.12837	0.008;0.001	T	0.51810	-0.8658	10	0.05436	T	0.98	-26.9069	7.3796	0.26847	0.1618:0.4407:0.3975:0.0	.	87;87	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	Q	87;87;48	ENSP00000365388:H87Q	ENSP00000365376:H87Q	H	+	3	2	PDSS1	27034254	0.660000	0.27420	0.296000	0.24974	0.933000	0.57130	1.012000	0.29924	0.208000	0.20626	-0.219000	0.12488	CAC		0.368	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			A	26994248	C	A	26994248	3	1	562	1	0	0	0	0	1	0	0	0	11695	477	17	4	275	4	PDSS1	10	26994248	Missense_Mutation	SNP	C	TCGA-CW-5585-01A-01D-1534-10		26994248	108540499	24	30390											
DCHS1	8642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6652328	6652328	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr11:6652328G>T	ENST00000299441.3	-	9	4297	c.3886C>A	c.(3886-3888)Caa>Aaa	p.Q1296K	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1296	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1296K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCTGCCTTGGTCATGAGCA	0.617																																																1	Substitution - Missense(1)	kidney(1)											38	31	33					11																	6652328		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3886C>A	11.37:g.6652328G>T	ENSP00000299441:p.Gln1296Lys		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	5.882	0.346822	0.11126	.	.	ENSG00000166341	ENST00000299441	T	0.50548	0.74	4.83	4.83	0.62350	Cadherin (4);Cadherin-like (1);	0.000000	0.37530	N	0.002052	T	0.24586	0.0596	N	0.04148	-0.265	0.30579	N	0.762758	P	0.35077	0.483	B	0.37015	0.239	T	0.12682	-1.0538	10	0.05525	T	0.97	.	14.7808	0.69766	0.0:0.0:1.0:0.0	.	1296	Q96JQ0	PCD16_HUMAN	K	1296	ENSP00000299441:Q1296K	ENSP00000299441:Q1296K	Q	-	1	0	DCHS1	6608904	0.901000	0.30685	1.000000	0.80357	0.987000	0.75469	1.173000	0.31920	2.529000	0.85273	0.467000	0.42956	CAA		0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		T	6652328	G	T	6652328	3	4	562	1	0	0	0	0	1	0	0	0	4289	1357	47	4	6062	4	DCHS1	11	6652328	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10		6652328	128354188	25	30391											
FADS2	9415	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61624985	61624985	+	Missense_Mutation	SNP	G	G	A	rs140356378		TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr11:61624985G>A	ENST00000278840.4	+	7	1495	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	FADS2_ENST00000522056.1_Missense_Mutation_p.V258I|FADS2_ENST00000521849.1_Missense_Mutation_p.V289I|FADS2_ENST00000257261.6_Missense_Mutation_p.V267I	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	289					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.V289I(1)|p.V267I(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	GACCATGATCGTCCATAAGAA	0.602																																																2	Substitution - Missense(2)	kidney(2)						G	ILE/VAL	0,4404		0,0,2202	124	110	115		865	1.3	0	11	dbSNP_134	115	1,8597	1.2+/-3.3	0,1,4298	no	missense	FADS2	NM_004265.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	289/445	61624985	1,13001	2202	4299	6501	SO:0001583	missense	9415			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.865G>A	11.37:g.61624985G>A	ENSP00000278840:p.Val289Ile		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	G	2.296	-0.361316	0.05103	0.0	1.16E-4	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840;ENST00000521849;ENST00000521571;ENST00000355484	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.02	1.28	0.21552	Fatty acid desaturase, type 1 (1);	1.000500	0.08067	N	0.999297	T	0.24967	0.0606	N	0.12182	0.205	0.09310	N	1	P;B;B;B	0.35612	0.512;0.188;0.09;0.287	B;B;B;B	0.33568	0.166;0.067;0.017;0.103	T	0.15809	-1.0424	10	0.20046	T	0.44	-4.2623	4.524	0.11973	0.4303:0.1607:0.4091:0.0	.	258;289;289;267	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	I	267;258;289;289;55;55	ENSP00000257261:V267I;ENSP00000429500:V258I;ENSP00000278840:V289I;ENSP00000431091:V289I;ENSP00000443867:V55I;ENSP00000437965:V55I	ENSP00000257261:V267I	V	+	1	0	FADS2	61381561	0.000000	0.05858	0.017000	0.16124	0.141000	0.21300	-0.252000	0.08806	-0.024000	0.13941	-0.264000	0.10439	GTC		0.602	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		A	61624985	G	A	61624985	3	1	562	1	0	0	0	0	1	0	0	0	5368	1145	40	1	891	1	FADS2	11	61624985	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10	54972657	61624985	73381531	26	30392											
OMP	4975	broad.mit.edu	37	11	76814080	76814080	+	Silent	SNP	C	C	T	rs199977260	byFrequency	TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr11:76814080C>T	ENST00000529803.1	+	1	195	c.195C>T	c.(193-195)ttC>ttT	p.F65F	CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000531028.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	65					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.F65F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGCTACAGTTCGAGCGCTGGA	0.627																																																1	Substitution - coding silent(1)	kidney(1)											38	49	45					11																	76814080		2162	4252	6414	SO:0001819	synonymous_variant	4975			U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.195C>T	11.37:g.76814080C>T			Q562G2	Silent	SNP	ENST00000529803.1	37	CCDS53682.1																																																																																				0.627	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		T	76814080	C	T	76814080	2	4	562	1	0	0	0	0	0	0	0	1	10869	883	31	1		1	OMP	11	76814080	Silent	SNP	C	TCGA-CW-5585-01A-01D-1534-10	15189095	76814080	58192436	27	30393											
TPI1	7167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6978057	6978057	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr12:6978057A>G	ENST00000229270.4	+	2	593	c.256A>G	c.(256-258)Atc>Gtc	p.I86V	TPI1_ENST00000396705.5_Missense_Mutation_p.I49V|TPI1_ENST00000488464.2_5'UTR|TPI1_ENST00000535434.1_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	86					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)	p.I49V(1)|p.I86V(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TACTGCCTATATCGACTTCGC	0.512											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(2)											74	68	70					12																	6978057		2203	4300	6503	SO:0001583	missense	7167				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.256A>G	12.37:g.6978057A>G	ENSP00000229270:p.Ile86Val	638	B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234939	0.58886	.	.	ENSG00000111669	ENST00000229270;ENST00000396705	D;D	0.94497	-3.44;-3.44	4.52	3.36	0.38483	Aldolase-type TIM barrel (1);	0.084643	0.49305	U	0.000155	D	0.90679	0.7076	L	0.42686	1.345	0.80722	D	1	B	0.02656	0.0	B	0.21708	0.036	D	0.88342	0.2975	10	0.62326	D	0.03	.	9.4271	0.38586	0.6022:0.3978:0.0:0.0	.	86	P60174	TPIS_HUMAN	V	86;49	ENSP00000229270:I86V;ENSP00000379933:I49V	ENSP00000229270:I86V	I	+	1	0	TPI1	6848318	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.820000	0.48057	1.895000	0.54865	0.459000	0.35465	ATC		0.512	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		G	6978057	A	G	6978057	3	3	562	1	0	0	0	0	1	0	0	0	16408	449	16	3	262	3	TPI1	12	6978057	Missense_Mutation	SNP	A	TCGA-CW-5585-01A-01D-1534-10		6978057	126873838	28	30394											
NXPH4	11247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57619419	57619419	+	Silent	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr12:57619419G>A	ENST00000349394.5	+	2	991	c.816G>A	c.(814-816)aaG>aaA	p.K272K	Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	272	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.K272K(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TCTGTGCCAAGCCCTTCAAAG	0.577																																																2	Substitution - coding silent(2)	kidney(2)											58	64	62					12																	57619419		2203	4300	6503	SO:0001819	synonymous_variant	11247			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.816G>A	12.37:g.57619419G>A			A8K4I4|Q7Z6L3|Q8N462	Silent	SNP	ENST00000349394.5	37	CCDS8933.1																																																																																				0.577	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		A	57619419	G	A	57619419	2	1	562	1	0	0	0	0	0	0	0	1	10795	962	34	2		2	NXPH4	12	57619419	Silent	SNP	G	TCGA-CW-5585-01A-01D-1534-10	50641362	57619419	76232476	29	30395											
CEP290	80184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	88514013	88514013	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr12:88514013delT	ENST00000552810.1	-	15	1743	c.1400delA	c.(1399-1401)aatfs	p.N467fs	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Del_p.N467fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	467					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTTTTTACAATTCTTTATTTC	0.249																																																0													61	52	55					12																	88514013		1788	4041	5829	SO:0001589	frameshift_variant	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1400delA	12.37:g.88514013delT	ENSP00000448012:p.Asn467fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	ENST00000552810.1	37	CCDS55858.1																																																																																				0.249	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		-	88514013	T	-	88514013	7	5	562	1	0	1	0	1	0	0	0	0	3255	1493	52	0	6199	0	CEP290	12	88514013	Frame_Shift_Del	DEL	T	TCGA-CW-5585-01A-01D-1534-10	30894594	88514013	45337882	30	30396											
COL4A2	1284	broad.mit.edu	37	13	111125466	111125466	+	Silent	SNP	T	T	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr13:111125466T>A	ENST00000360467.5	+	29	2700	c.2394T>A	c.(2392-2394)ctT>ctA	p.L798L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	798	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.L798L(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TTAAAGGCCTTCCCGGAGACA	0.687																																																1	Substitution - coding silent(1)	kidney(1)											12	15	14					13																	111125466		1916	4099	6015	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2394T>A	13.37:g.111125466T>A			Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																				0.687	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		A	111125466	T	A	111125466	2	1	562	1	0	0	0	0	0	0	0	1	3692	1770	62	5		5	COL4A2	13	111125466	Silent	SNP	T	TCGA-CW-5585-01A-01D-1534-10		111125466	4044412	31	30397											
ARHGEF7	8874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	111953859	111953859	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr13:111953859G>A	ENST00000218789.5	+	20	2472	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.E600K|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.E675K|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.E685K|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.E600K			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E600K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ATTAAAGGATGAAGTTCAAGA	0.353																																																1	Substitution - Missense(1)	kidney(1)											274	234	247					13																	111953859		2203	4300	6503	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000218789.5:c.1975G>A	13.37:g.111953859G>A	ENSP00000218789:p.Glu659Lys		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000218789.5	37		.	.	.	.	.	.	.	.	.	.	G	18.07	3.541859	0.65198	.	.	ENSG00000102606	ENST00000370623;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737	T;T;T;T;T	0.56444	0.48;0.46;0.49;0.49;0.52	4.65	4.65	0.58169	.	.	.	.	.	T	0.69691	0.3139	M	0.65498	2.005	0.80722	D	1	D	0.65815	0.995	D	0.63488	0.915	T	0.73895	-0.3838	9	0.66056	D	0.02	.	17.9049	0.88915	0.0:0.0:1.0:0.0	.	675	B7Z6G2	.	K	685;659;600;600;675	ENSP00000359657:E685K;ENSP00000218789:E659K;ENSP00000364888:E600K;ENSP00000397068:E600K;ENSP00000364889:E675K	ENSP00000218789:E659K	E	+	1	0	ARHGEF7	110751860	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	8.829000	0.92055	2.306000	0.77630	0.555000	0.69702	GAA		0.353	ARHGEF7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000045805.3	NM_001113511		A	111953859	G	A	111953859	3	1	562	1	0	0	0	0	1	0	0	0	911	1291	45	2	2633	2	ARHGEF7	13	111953859	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10	828393	111953859	3216019	32	30398											
SOCS4	122809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55510990	55510991	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr14:55510990_55510991insT	ENST00000395472.2	+	2	1563_1564	c.1231_1232insT	c.(1231-1233)attfs	p.I411fs	SOCS4_ENST00000555846.1_Frame_Shift_Ins_p.I411fs|SOCS4_ENST00000339298.2_Frame_Shift_Ins_p.I411fs	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	411	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGCCCTTCCAATTCCTTCTTCT	0.371																																																0																																										SO:0001589	frameshift_variant	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.1233dupT	14.37:g.55510992_55510992dupT	ENSP00000378855:p.Ile411fs			Frame_Shift_Ins	INS	ENST00000395472.2	37	CCDS9722.1																																																																																				0.371	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			T	55510991	-	T	55510990	7	5	562	1	0	1	1	0	0	0	0	0	14922	101	4	0	1233	0	SOCS4	14	55510990	Frame_Shift_Ins	INS	-	TCGA-CW-5585-01A-01D-1534-10		55510990	51838550	33	30399											
SLC28A2	9153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45559654	45559654	+	Splice_Site	SNP	C	C	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr15:45559654C>T	ENST00000347644.3	+	11	1009	c.944C>T	c.(943-945)aCa>aTa	p.T315I	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	315					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.T315I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TGTTTGTAGACAGAGGCACCT	0.547																																					NSCLC(92;493 1501 26361 28917 47116)											1	Substitution - Missense(1)	kidney(1)											168	163	165					15																	45559654		2198	4298	6496	SO:0001630	splice_region_variant	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.943-1C>T	15.37:g.45559654C>T			A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564123	0.86335	.	.	ENSG00000137860	ENST00000347644	T	0.28666	1.6	5.94	5.94	0.96194	Nucleoside recognition (1);	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.80422	2.495	0.80722	D	1	D	0.63046	0.992	D	0.65010	0.931	T	0.61019	-0.7147	10	0.87932	D	0	-5.8716	17.853	0.88754	0.0:1.0:0.0:0.0	.	315	O43868	S28A2_HUMAN	I	315	ENSP00000315006:T315I	ENSP00000315006:T315I	T	+	2	0	SLC28A2	43346946	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.374000	0.79633	2.816000	0.96949	0.561000	0.74099	ACA		0.547	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	Missense_Mutation	T	45559654	C	T	45559654	5	4	562	1	0	0	0	0	0	0	1	0	14538	492	17	2	982	2	SLC28A2	15	45559654	Splice_Site	SNP	C	TCGA-CW-5585-01A-01D-1534-10		45559654	56971738	34	30400											
TRPM7	54822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50891477	50891477	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr15:50891477T>C	ENST00000313478.7	-	22	3286	c.3005A>G	c.(3004-3006)tAc>tGc	p.Y1002C	TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1002C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1002					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Y1002C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CACTACAATGTAGAACATATT	0.333																																																1	Substitution - Missense(1)	kidney(1)											86	84	85					15																	50891477		1833	4079	5912	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3005A>G	15.37:g.50891477T>C	ENSP00000320239:p.Tyr1002Cys		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926846	0.73327	.	.	ENSG00000092439	ENST00000313478	T	0.72835	-0.69	5.2	5.2	0.72013	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.86209	0.5878	M	0.89904	3.07	0.58432	D	0.999998	D	0.89917	1.0	D	0.70487	0.969	D	0.89301	0.3626	10	0.87932	D	0	-7.0677	14.707	0.69198	0.0:0.0:0.0:1.0	.	1002	Q96QT4	TRPM7_HUMAN	C	1002	ENSP00000320239:Y1002C	ENSP00000320239:Y1002C	Y	-	2	0	TRPM7	48678769	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.981000	0.70524	1.940000	0.56252	0.491000	0.48974	TAC		0.333	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		C	50891477	T	C	50891477	3	2	562	1	0	0	0	0	1	0	0	0	16596	1638	57	3	2664	3	TRPM7	15	50891477	Missense_Mutation	SNP	T	TCGA-CW-5585-01A-01D-1534-10	5331823	50891477	51639915	35	30401											
FAM63B	54629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59146745	59146745	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr15:59146745G>A	ENST00000559228.1	+	9	1884	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	FAM63B_ENST00000450403.2_Missense_Mutation_p.R600Q|RP11-30K9.5_ENST00000558042.1_RNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	601								p.R601Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GAACGTAAACGGAAGGAACCA	0.383																																																1	Substitution - Missense(1)	kidney(1)											59	56	57					15																	59146745		1841	4094	5935	SO:0001583	missense	54629			AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1802G>A	15.37:g.59146745G>A	ENSP00000452885:p.Arg601Gln		B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859522	0.51376	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.49432	0.78	5.96	5.96	0.96718	.	0.275088	0.25208	N	0.032331	T	0.56920	0.2018	L	0.27053	0.805	0.41782	D	0.989825	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.46048	-0.9219	10	0.17832	T	0.49	-8.4741	19.4074	0.94653	0.0:0.0:1.0:0.0	.	601;600	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	Q	601;600	ENSP00000393231:R600Q	ENSP00000326194:R601Q	R	+	2	0	FAM63B	56934037	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.744000	0.68664	2.831000	0.97527	0.650000	0.86243	CGG		0.383	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		A	59146745	G	A	59146745	3	1	562	1	0	0	0	0	1	0	0	0	5599	1116	39	1	1836	1	FAM63B	15	59146745	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10	8255268	59146745	43384647	36	30402											
BRD7	29117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	50357601	50357601	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr16:50357601T>C	ENST00000394688.3	-	12	1499	c.1340A>G	c.(1339-1341)gAg>gGg	p.E447G	BRD7_ENST00000394689.2_Missense_Mutation_p.E447G			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	447					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E447G(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GGCCAAAAACTCATGGATGCT	0.463																																																1	Substitution - Missense(1)	kidney(1)											86	74	78					16																	50357601		2198	4300	6498	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1340A>G	16.37:g.50357601T>C	ENSP00000378180:p.Glu447Gly		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.979229	0.92982	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.51574	0.7;0.7	5.53	5.53	0.82687	.	0.099305	0.64402	D	0.000002	T	0.62085	0.2399	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.59767	0.986;0.982	P;P	0.56398	0.797;0.695	T	0.65928	-0.6049	10	0.62326	D	0.03	-36.3972	15.645	0.77042	0.0:0.0:0.0:1.0	.	447;447	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	G	447	ENSP00000378180:E447G;ENSP00000378181:E447G	ENSP00000378180:E447G	E	-	2	0	BRD7	48915102	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.461000	0.80834	2.096000	0.63516	0.533000	0.62120	GAG		0.463	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		C	50357601	T	C	50357601	3	2	562	1	0	0	0	0	1	0	0	0	1507	1551	54	3	642	3	BRD7	16	50357601	Missense_Mutation	SNP	T	TCGA-CW-5585-01A-01D-1534-10		50357601	39997152	37	30403											
TAF1C	9013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84215642	84215642	+	Silent	SNP	G	G	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr16:84215642G>T	ENST00000567759.1	-	8	926	c.744C>A	c.(742-744)acC>acA	p.T248T	TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000566732.1_Silent_p.T248T|TAF1C_ENST00000378541.4_Silent_p.T248T|TAF1C_ENST00000341690.6_Silent_p.T181T|TAF1C_ENST00000541676.1_Silent_p.T181T	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	248					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.T248T(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TGTCACCTGGGGTCAGAACGA	0.557																																																1	Substitution - coding silent(1)	kidney(1)											69	69	69					16																	84215642		2200	4300	6500	SO:0001819	synonymous_variant	9013			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.744C>A	16.37:g.84215642G>T			B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	CCDS32496.1																																																																																				0.557	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		T	84215642	G	T	84215642	2	4	562	1	0	0	0	0	0	0	0	1	15526	1219	43	4		4	TAF1C	16	84215642	Silent	SNP	G	TCGA-CW-5585-01A-01D-1534-10	33858041	84215642	6139111	38	30404											
GEMIN4	50628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	649388	649388	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr17:649388A>T	ENST00000319004.5	-	2	2013	c.1895T>A	c.(1894-1896)aTg>aAg	p.M632K	GEMIN4_ENST00000576778.1_Missense_Mutation_p.M621K	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	632					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.M632K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CACGGGACTCATCAGGCAGTT	0.478																																																2	Substitution - Missense(2)	kidney(2)											98	99	99					17																	649388		1881	4110	5991	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1895T>A	17.37:g.649388A>T	ENSP00000321706:p.Met632Lys		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	A	8.146	0.786235	0.16189	.	.	ENSG00000179409	ENST00000319004	T	0.07908	3.15	5.48	4.37	0.52481	.	0.181464	0.56097	D	0.000022	T	0.08268	0.0206	L	0.42245	1.32	0.80722	D	1	B	0.30973	0.302	B	0.24541	0.054	T	0.10870	-1.0611	10	0.72032	D	0.01	-2.403	10.8928	0.47004	0.9253:0.0:0.0747:0.0	.	632	P57678	GEMI4_HUMAN	K	632	ENSP00000321706:M632K	ENSP00000321706:M632K	M	-	2	0	GEMIN4	596138	1.000000	0.71417	0.293000	0.24932	0.107000	0.19398	4.833000	0.62766	0.870000	0.35726	0.482000	0.46254	ATG		0.478	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		T	649388	A	T	649388	3	4	562	1	0	0	0	0	1	0	0	0	6332	217	8	5	1285	5	GEMIN4	17	649388	Missense_Mutation	SNP	A	TCGA-CW-5585-01A-01D-1534-10		649388	80545822	39	30405											
FBN3	84467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8196481	8196481	+	Silent	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr19:8196481G>A	ENST00000600128.1	-	15	2361	c.1947C>T	c.(1945-1947)caC>caT	p.H649H	FBN3_ENST00000270509.2_Silent_p.H649H|FBN3_ENST00000601739.1_Silent_p.H649H			Q75N90	FBN3_HUMAN	fibrillin 3	649	TB 3.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.H649H(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCCAAAACCGTGGTCCGGAT	0.642																																																1	Substitution - coding silent(1)	kidney(1)											58	62	61					19																	8196481		2203	4300	6503	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1947C>T	19.37:g.8196481G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.642	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		A	8196481	G	A	8196481	2	1	562	1	0	0	0	0	0	0	0	1	5706	1136	40	1		1	FBN3	19	8196481	Silent	SNP	G	TCGA-CW-5585-01A-01D-1534-10		8196481	50932502	40	30406											
LASS4	79603	hgsc.bcm.edu;ucsc.edu	37	19	8322788	8322790	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	AGT	AGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr19:8322788_8322790delAGT	ENST00000251363.5	+	10	1067_1069	c.767_769delAGT	c.(766-771)cagtat>cat	p.256_257QY>H	CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000558331.1_In_Frame_Del_p.205_206QY>H|CERS4_ENST00000559450.1_In_Frame_Del_p.256_257QY>H|CERS4_ENST00000559336.1_Intron	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	256	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AACTACATGCAGTATCAGCAAGT	0.547																																																0																																										SO:0001651	inframe_deletion	0				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.767_769delAGT	19.37:g.8322788_8322790delAGT	ENSP00000251363:p.Gln256_Tyr257delinsHis		D6W665	In_Frame_Del	DEL	ENST00000251363.5	37	CCDS12197.1																																																																																				0.547	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		-	8322790	AGT	-	8322788	7	5	562	1	0	1	0	1	0	0	0	0	8643	188	7	0	797	0	LASS4	19	8322788	In_Frame_Del	DEL	AGT	TCGA-CW-5585-01A-01D-1534-10	126307	8322788	50806195	41	30407											
RTN2	6253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45997582	45997582	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr19:45997582G>A	ENST00000245923.4	-	4	891	c.656C>T	c.(655-657)cCg>cTg	p.P219L	RTN2_ENST00000344680.4_Missense_Mutation_p.P219L|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	219					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.P219L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGATGGGGACGGAGTACCGGC	0.622																																																1	Substitution - Missense(1)	kidney(1)											64	56	59					19																	45997582		2203	4300	6503	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.656C>T	19.37:g.45997582G>A	ENSP00000245923:p.Pro219Leu		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402769	0.62288	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.54866	0.55;0.6	5.68	4.64	0.57946	.	0.000000	0.51477	D	0.000096	T	0.58104	0.2099	L	0.29908	0.895	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.53816	-0.8385	10	0.25751	T	0.34	-19.9775	12.069	0.53605	0.0:0.0:0.8278:0.1722	.	219;219	O75298-2;O75298	.;RTN2_HUMAN	L	219	ENSP00000345127:P219L;ENSP00000245923:P219L	ENSP00000245923:P219L	P	-	2	0	RTN2	50689422	0.983000	0.35010	0.063000	0.19743	0.007000	0.05969	1.511000	0.35801	1.384000	0.46424	0.563000	0.77884	CCG		0.622	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		A	45997582	G	A	45997582	3	1	562	1	0	0	0	0	1	0	0	0	13732	1116	39	1	1013	1	RTN2	19	45997582	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10	37674794	45997582	13131401	42	30408											
SLC27A5	10998	broad.mit.edu;hgsc.bcm.edu	37	19	59011001	59011001	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr19:59011001G>A	ENST00000263093.2	-	7	1634	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	SLC27A5_ENST00000601355.1_Missense_Mutation_p.R425C|SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000594786.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	509					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R509C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGGGGCCGCGGTAGCCCACG	0.657																																																1	Substitution - Missense(1)	kidney(1)											80	77	78					19																	59011001		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1525C>T	19.37:g.59011001G>A	ENSP00000263093:p.Arg509Cys		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365992	0.82463	.	.	ENSG00000083807	ENST00000263093	T	0.40225	1.04	5.26	1.69	0.24217	AMP-dependent synthetase/ligase (1);	0.384512	0.26788	N	0.022488	T	0.51856	0.1699	M	0.68593	2.085	0.43467	D	0.995678	D	0.65815	0.995	P	0.61658	0.892	T	0.50558	-0.8814	10	0.59425	D	0.04	-18.0939	5.8228	0.18536	0.0907:0.0:0.5689:0.3404	.	509	Q9Y2P5	S27A5_HUMAN	C	509	ENSP00000263093:R509C	ENSP00000263093:R509C	R	-	1	0	SLC27A5	63702813	0.996000	0.38824	0.958000	0.39756	0.852000	0.48524	1.991000	0.40727	0.711000	0.32018	0.462000	0.41574	CGC		0.657	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		A	59011001	G	A	59011001	3	1	562	1	0	0	0	0	1	0	0	0	14535	1116	39	1	563	1	SLC27A5	19	59011001	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10	13013419	59011001	117982	43	30409											
SLC12A5	57468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44663593	44663593	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr20:44663593G>A	ENST00000454036.2	+	2	177	c.128G>A	c.(127-129)gGc>gAc	p.G43D	SLC12A5_ENST00000608944.1_5'UTR|SLC12A5_ENST00000372315.1_Missense_Mutation_p.G20D|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G20D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	43					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.G20D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCAGGTGATGGCAACCCCAAG	0.532																																																1	Substitution - Missense(1)	kidney(1)											217	165	183					20																	44663593		2203	4300	6503	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.128G>A	20.37:g.44663593G>A	ENSP00000387694:p.Gly43Asp		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921316	0.52653	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;T;T;T	0.84660	-1.88;2.06;2.06;2.06	4.88	4.88	0.63580	.	0.388617	0.29376	N	0.012322	T	0.79488	0.4454	L	0.45352	1.415	0.43924	D	0.996577	B;B;B	0.20780	0.048;0.001;0.001	B;B;B	0.27170	0.077;0.004;0.001	T	0.72802	-0.4183	10	0.27082	T	0.32	.	10.6758	0.45785	0.0882:0.0:0.9118:0.0	.	43;20;20	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	D	43;20;20;20	ENSP00000387694:G43D;ENSP00000361389:G20D;ENSP00000446091:G20D;ENSP00000243964:G20D	ENSP00000243964:G20D	G	+	2	0	SLC12A5	44097000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.157000	0.71846	2.679000	0.91253	0.655000	0.94253	GGC		0.532	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			A	44663593	G	A	44663593	3	1	562	1	0	0	0	0	1	0	0	0	14392	1203	42	2	190	2	SLC12A5	20	44663593	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10		44663593	18361927	44	30410											
ZNF512B	57473	broad.mit.edu	37	20	62595905	62595905	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr20:62595905T>C	ENST00000450537.1	-	6	1259	c.1199A>G	c.(1198-1200)gAg>gGg	p.E400G	ZNF512B_ENST00000217130.3_Missense_Mutation_p.E400G|ZNF512B_ENST00000369888.1_Missense_Mutation_p.E400G			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E400G(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTTCAGTGCCTCCATGCCCCC	0.687																																																1	Substitution - Missense(1)	kidney(1)											37	36	37					20																	62595905		2202	4299	6501	SO:0001583	missense	57473			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1199A>G	20.37:g.62595905T>C	ENSP00000393795:p.Glu400Gly		Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.570548	0.45798	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.27256	1.68;1.68;1.68	5.35	5.35	0.76521	.	0.382752	0.28176	N	0.016313	T	0.33440	0.0863	L	0.50333	1.59	0.49798	D	0.999826	P	0.52463	0.953	P	0.50109	0.631	T	0.04522	-1.0945	10	0.48119	T	0.1	-43.4413	13.0668	0.59038	0.0:0.0:0.0:1.0	.	400	Q96KM6	Z512B_HUMAN	G	400	ENSP00000358904:E400G;ENSP00000393795:E400G;ENSP00000217130:E400G	ENSP00000217130:E400G	E	-	2	0	ZNF512B	62066349	0.997000	0.39634	0.151000	0.22473	0.012000	0.07955	3.284000	0.51708	2.023000	0.59567	0.482000	0.46254	GAG		0.687	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		C	62595905	T	C	62595905	3	2	562	1	0	0	0	0	1	0	0	0	17962	1551	54	3	1527	3	ZNF512B	20	62595905	Missense_Mutation	SNP	T	TCGA-CW-5585-01A-01D-1534-10	17932312	62595905	429615	45	30411											
UMODL1	89766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	43533907	43533907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr21:43533907G>T	ENST00000408910.2	+	13	2329	c.2329G>T	c.(2329-2331)Gaa>Taa	p.E777*	UMODL1_ENST00000400427.1_Nonsense_Mutation_p.E833*|UMODL1_ENST00000400424.2_Nonsense_Mutation_p.E705*|UMODL1_ENST00000408989.2_Nonsense_Mutation_p.E905*	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	777	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.E705*(1)|p.E905*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ATGTGGGAAAGAAGGTGCCAG	0.483																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											2	Substitution - Nonsense(2)	kidney(2)											69	67	68					21																	43533907		1951	4145	6096	SO:0001587	stop_gained	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2329G>T	21.37:g.43533907G>T	ENSP00000386147:p.Glu777*		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Nonsense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308951	0.81247	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	.	.	.	4.7	2.73	0.32206	.	0.133319	0.32918	N	0.005492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.5033	12.4482	0.55664	0.0:0.3229:0.6771:0.0	.	.	.	.	X	833;705;905;777	.	.	E	+	1	0	UMODL1	42406976	0.958000	0.32768	0.038000	0.18304	0.005000	0.04900	1.993000	0.40747	1.323000	0.45263	-0.224000	0.12420	GAA		0.483	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			T	43533907	G	T	43533907	4	4	562	1	0	0	0	0	0	1	0	0	16985	943	33	4	2759	4	UMODL1	21	43533907	Nonsense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10		43533907	4595988	46	30412											
MAGEE2	139599	broad.mit.edu;hgsc.bcm.edu	37	X	75003527	75003527	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chrX:75003527G>A	ENST00000373359.2	-	1	1552	c.1360C>T	c.(1360-1362)Cca>Tca	p.P454S		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	454	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P454S(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TAGGACAGTGGCCTGCATTCC	0.473																																																1	Substitution - Missense(1)	kidney(1)											97	85	89					X																	75003527		2203	4300	6503	SO:0001583	missense	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1360C>T	X.37:g.75003527G>A	ENSP00000362457:p.Pro454Ser		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045910	0.36085	.	.	ENSG00000186675	ENST00000373359	T	0.04809	3.55	2.63	2.63	0.31362	.	.	.	.	.	T	0.14614	0.0353	M	0.64404	1.975	0.22521	N	0.999021	D	0.65815	0.995	D	0.66602	0.945	T	0.04029	-1.0983	9	0.66056	D	0.02	.	7.9556	0.30040	0.0:0.0:1.0:0.0	.	454	Q8TD90	MAGE2_HUMAN	S	454	ENSP00000362457:P454S	ENSP00000362457:P454S	P	-	1	0	MAGEE2	74920252	1.000000	0.71417	0.650000	0.29550	0.651000	0.38670	2.604000	0.46274	1.586000	0.49944	0.417000	0.27973	CCA		0.473	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		A	75003527	G	A	75003527	3	1	562	1	0	0	0	0	1	0	0	0	9188	1203	42	2	215	2	MAGEE2	23	75003527	Missense_Mutation	SNP	G	TCGA-CW-5585-01A-01D-1534-10		75003527	80267033	47	30413											
EIF4G3	8672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21167484	21167484	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr1:21167484C>A	ENST00000264211.8	-	24	3952	c.3758G>T	c.(3757-3759)gGc>gTc	p.G1253V	RNU7-200P_ENST00000516105.1_RNA|EIF4G3_ENST00000537738.1_Missense_Mutation_p.G743V|EIF4G3_ENST00000602326.1_Missense_Mutation_p.G1259V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G1259V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G1253V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G973V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.G857V	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1253	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.G1253V(1)|p.G1259V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATGTAGTAGGCCCTGGGCATT	0.473																																																2	Substitution - Missense(2)	kidney(2)											95	90	92					1																	21167484		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3758G>T	1.37:g.21167484C>A	ENSP00000264211:p.Gly1253Val		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032015	0.35893	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000435383	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.48	0.991	0.19813	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.381500	0.30473	N	0.009542	T	0.14917	0.0360	N	0.02539	-0.55	0.80722	D	1	P;B;B;P;B	0.38335	0.601;0.013;0.026;0.627;0.25	B;B;B;B;B	0.42319	0.383;0.016;0.016;0.306;0.105	T	0.16928	-1.0386	10	0.62326	D	0.03	-0.9816	11.0794	0.48051	0.0:0.6027:0.0:0.3973	.	1448;973;857;1259;1253	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	V	1253;1449;1253;973;743;1259;857;19	ENSP00000264211:G1253V;ENSP00000383274:G1253V;ENSP00000364071:G973V;ENSP00000442010:G743V;ENSP00000364073:G1259V;ENSP00000444693:G857V	ENSP00000264211:G1253V	G	-	2	0	EIF4G3	21040071	0.982000	0.34865	0.994000	0.49952	0.772000	0.43724	1.105000	0.31086	0.293000	0.22520	0.313000	0.20887	GGC		0.473	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		A	21167484	C	A	21167484	3	1	563	1	0	0	0	0	1	0	0	0	5040	739	26	4	1031	4	EIF4G3	1	21167484	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10		21167484	228083137	1	30414											
RIMS3	9783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	41092246	41092246	+	Silent	SNP	G	G	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr1:41092246G>T	ENST00000372684.3	-	8	1339	c.870C>A	c.(868-870)ctC>ctA	p.L290L	RIMS3_ENST00000372683.1_Silent_p.L290L	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	290					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.L290L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GGCGCCTGGTGAGGGATCCGA	0.632																																																1	Substitution - coding silent(1)	kidney(1)											60	56	58					1																	41092246		2203	4300	6503	SO:0001819	synonymous_variant	9783			BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.870C>A	1.37:g.41092246G>T			D3DPV8|Q92511|X5D7U7	Silent	SNP	ENST00000372684.3	37	CCDS30687.1																																																																																				0.632	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		T	41092246	G	T	41092246	2	4	563	1	0	0	0	0	0	0	0	1	13375	1277	45	4		4	RIMS3	1	41092246	Silent	SNP	G	TCGA-CW-5588-01A-01D-1534-10	19924762	41092246	208158375	2	30415											
CYP4B1	1580	hgsc.bcm.edu;ucsc.edu	37	1	47282767	47282767	+	Missense_Mutation	SNP	G	G	A	rs373978131		TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr1:47282767G>A	ENST00000271153.4	+	9	1154	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N	CYP4B1_ENST00000371923.4_Missense_Mutation_p.S374N|CYP4B1_ENST00000452782.2_Missense_Mutation_p.S211N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.S359N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	373					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	ATCAAGGAGAGCTTCCGCCTC	0.552																																																0								G	ASN/SER,ASN/SER	0,4406		0,0,2203	161	148	153		1118,1121	1.7	0.9	1		153	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYP4B1	NM_000779.3,NM_001099772.1	46,46	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	373/512,374/513	47282767	1,13005	2203	4300	6503	SO:0001583	missense	1580			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1118G>A	1.37:g.47282767G>A	ENSP00000271153:p.Ser373Asn		Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105066	0.77096	0.0	1.16E-4	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.82	1.69	0.24217	.	0.361270	0.36409	N	0.002618	D	0.84862	0.5566	M	0.91300	3.195	0.30623	N	0.758289	D;P;P	0.71674	0.998;0.919;0.934	D;P;P	0.70227	0.968;0.851;0.908	D	0.83757	0.0212	10	0.87932	D	0	.	11.5592	0.50766	0.0637:0.3514:0.5849:0.0	.	359;374;373	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	N	374;373;359;211;210	ENSP00000360991:S374N;ENSP00000271153:S373N;ENSP00000360987:S359N;ENSP00000400413:S211N;ENSP00000437670:S210N	ENSP00000271153:S373N	S	+	2	0	CYP4B1	47055354	1.000000	0.71417	0.900000	0.35374	0.994000	0.84299	2.691000	0.47010	0.059000	0.16252	0.655000	0.94253	AGC		0.552	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		A	47282767	G	A	47282767	3	1	563	1	0	0	0	0	1	0	0	0	4187	971	34	2	1155	2	CYP4B1	1	47282767	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10	6190521	47282767	201967854	3	30416											
ADAR	103	broad.mit.edu;hgsc.bcm.edu	37	1	154569310	154569310	+	Silent	SNP	G	G	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr1:154569310G>A	ENST00000368474.4	-	6	2440	c.2241C>T	c.(2239-2241)gtC>gtT	p.V747V	ADAR_ENST00000368471.3_Silent_p.V452V|ADAR_ENST00000292205.5_Silent_p.V790V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	747	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V747V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CGGACTGGTCGACCAACTTGA	0.557																																																1	Substitution - coding silent(1)	kidney(1)											105	88	94					1																	154569310		2203	4300	6503	SO:0001819	synonymous_variant	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2241C>T	1.37:g.154569310G>A			B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	CCDS1071.1																																																																																				0.557	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		A	154569310	G	A	154569310	2	1	563	1	0	0	0	0	0	0	0	1	281	1045	37	1		1	ADAR	1	154569310	Silent	SNP	G	TCGA-CW-5588-01A-01D-1534-10	107286543	154569310	94681311	4	30417											
FLAD1	80308	broad.mit.edu;ucsc.edu	37	1	154956241	154956241	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr1:154956241T>A	ENST00000292180.3	+	1	393	c.71T>A	c.(70-72)tTa>tAa	p.L24*	FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368433.1_Nonsense_Mutation_p.L24*|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000315144.10_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	24					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.L24*(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGATCTGGTTAGAGAAGACT	0.522																																																1	Substitution - Nonsense(1)	kidney(1)											100	99	99					1																	154956241		2203	4300	6503	SO:0001587	stop_gained	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.71T>A	1.37:g.154956241T>A	ENSP00000292180:p.Leu24*		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Nonsense_Mutation	SNP	ENST00000292180.3	37	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.811891	0.90707	.	.	ENSG00000160688	ENST00000368433;ENST00000292180	.	.	.	3.87	-4.8	0.03190	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1991	4.3417	0.11113	0.1265:0.0882:0.5472:0.2382	.	.	.	.	X	24	.	ENSP00000292180:L24X	L	+	2	0	FLAD1	153222865	0.053000	0.20554	0.000000	0.03702	0.168000	0.22595	0.009000	0.13219	-0.988000	0.03489	-0.429000	0.05907	TTA		0.522	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		A	154956241	T	A	154956241	4	1	563	1	0	0	0	0	0	1	0	0	5922	1764	61	5	73	5	FLAD1	1	154956241	Nonsense_Mutation	SNP	T	TCGA-CW-5588-01A-01D-1534-10	386931	154956241	94294380	5	30418											
GPR37L1	9283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202092521	202092521	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr1:202092521G>T	ENST00000367282.5	+	1	536	c.430G>T	c.(430-432)Ggc>Tgc	p.G144C		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	144					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.G144C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GTTTGCGGTGGGCATTGTGGG	0.582																																																1	Substitution - Missense(1)	kidney(1)											188	141	157					1																	202092521		2203	4300	6503	SO:0001583	missense	9283			AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"GPCR / Class A : Orphans"	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.430G>T	1.37:g.202092521G>T	ENSP00000356251:p.Gly144Cys		B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115436	0.77323	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.53423	0.62	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72571	-0.4253	10	0.66056	D	0.02	-32.0404	18.1765	0.89764	0.0:0.0:1.0:0.0	.	144	O60883	ETBR2_HUMAN	C	11;144	ENSP00000356251:G144C	ENSP00000356251:G144C	G	+	1	0	GPR37L1	200359144	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	9.860000	0.99555	2.370000	0.80446	0.462000	0.41574	GGC		0.582	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		T	202092521	G	T	202092521	3	4	563	1	0	0	0	0	1	0	0	0	6694	1232	43	4	432	4	GPR37L1	1	202092521	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10	47136280	202092521	47158100	6	30419											
OR2T12	127064	broad.mit.edu;hgsc.bcm.edu	37	1	248458390	248458390	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr1:248458390A>G	ENST00000317996.1	-	1	490	c.491T>C	c.(490-492)tTc>tCc	p.F164S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F164S(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCAATATGGGAAGCTCAGGGT	0.587																																																1	Substitution - Missense(1)	kidney(1)											82	82	82					1																	248458390		2199	4298	6497	SO:0001583	missense	127064			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.491T>C	1.37:g.248458390A>G	ENSP00000324583:p.Phe164Ser			Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	13.38	2.219850	0.39201	.	.	ENSG00000177201	ENST00000317996	T	0.00202	8.56	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	U	0.002513	T	0.00412	0.0013	M	0.71581	2.175	0.09310	N	1	D	0.71674	0.998	D	0.74674	0.984	T	0.43426	-0.9392	10	0.87932	D	0	.	8.3975	0.32566	1.0:0.0:0.0:0.0	.	164	Q8NG77	O2T12_HUMAN	S	164	ENSP00000324583:F164S	ENSP00000324583:F164S	F	-	2	0	OR2T12	246525013	0.000000	0.05858	0.082000	0.20525	0.090000	0.18270	0.450000	0.21762	0.540000	0.28808	0.147000	0.16070	TTC		0.587	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		G	248458390	A	G	248458390	3	3	563	1	0	0	0	0	1	0	0	0	11021	246	9	3	474	3	OR2T12	1	248458390	Missense_Mutation	SNP	A	TCGA-CW-5588-01A-01D-1534-10	46365869	248458390	792231	7	30420											
OR2T4	127074	hgsc.bcm.edu	37	1	248525328	248525329	+	Frame_Shift_Ins	INS	-	-	TA	rs370409078|rs61248663	byFrequency	TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr1:248525328_248525329insTA	ENST00000366475.1	+	1	446_447	c.446_447insTA	c.(445-450)accatgfs	p.M150fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M150fs*20(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTCTAGCCACCATGGCCTATG	0.525														1358	0.271166	0.2284	0.2637	5008	,	,		20870	0.381		0.1779	False		,,,				2504	0.317															1	Insertion - Frameshift(1)	liver(1)																																								SO:0001589	frameshift_variant	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	Exception_encountered	1.37:g.248525328_248525329insTA	ENSP00000355431:p.Met150fs		Q6IEZ8	Frame_Shift_Ins	INS	ENST00000366475.1	37	CCDS31113.1																																																																																				0.525	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		TA	248525329	-	TA	248525328	7	5	563	1	0	1	1	0	0	0	0	0	11029	507	18	0	448	0	OR2T4	1	248525328	Frame_Shift_Ins	INS	-	TCGA-CW-5588-01A-01D-1534-10	66938	248525328	725293	8	30421											
ASXL2	55252	hgsc.bcm.edu;ucsc.edu	37	2	26068366	26068368	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr2:26068366_26068368delCTT	ENST00000435504.4	-	2	415_417	c.122_124delAAG	c.(121-126)gaagga>gga	p.E41del	ASXL2_ENST00000336112.4_In_Frame_Del_p.E13del|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	41					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTTAGTCCTTCTCTCTGGAT	0.256																																																0																																										SO:0001651	inframe_deletion	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.122_124delAAG	2.37:g.26068366_26068368delCTT	ENSP00000391447:p.Glu41del		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37																																																																																					0.256	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		-	26068368	CTT	-	26068366	7	5	563	1	0	1	0	1	0	0	0	0	1067	690	24	0	4227	0	ASXL2	2	26068366	In_Frame_Del	DEL	CTT	TCGA-CW-5588-01A-01D-1534-10		26068366	217131007	9	30422											
ANKRD36	375248	broad.mit.edu;hgsc.bcm.edu	37	2	97849372	97849372	+	Silent	SNP	T	T	C			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr2:97849372T>C	ENST00000461153.2	+	28	2164	c.1920T>C	c.(1918-1920)ggT>ggC	p.G640G	ANKRD36_ENST00000420699.2_Silent_p.G640G			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	640								p.G640G(2)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAATAATGGGTGGTGGGAAAT	0.353																																																2	Substitution - coding silent(2)	kidney(2)											190	159	168					2																	97849372		692	1591	2283	SO:0001819	synonymous_variant	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1920T>C	2.37:g.97849372T>C			B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	CCDS54379.1																																																																																				0.353	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			C	97849372	T	C	97849372	2	2	563	1	0	0	0	0	0	0	0	1	665	1683	59	3		3	ANKRD36	2	97849372	Silent	SNP	T	TCGA-CW-5588-01A-01D-1534-10	71781006	97849372	145350001	10	30423											
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	168103910	168103910	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr2:168103910A>T	ENST00000409195.1	+	9	6097	c.6008A>T	c.(6007-6009)aAa>aTa	p.K2003I	XIRP2_ENST00000295237.9_Missense_Mutation_p.K2003I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1781I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1828					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.K2003I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTATGGGGAAATCTTGCCAT	0.443																																																1	Substitution - Missense(1)	kidney(1)											50	47	48					2																	168103910		1871	4097	5968	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6008A>T	2.37:g.168103910A>T	ENSP00000386840:p.Lys2003Ile		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.280641	0.23392	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03772	3.81;3.81;3.81	5.31	2.88	0.33553	.	0.777035	0.12620	N	0.453136	T	0.16214	0.0390	M	0.65975	2.015	0.26624	N	0.972609	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.933;0.97;0.999	T	0.08576	-1.0715	10	0.56958	D	0.05	-10.3412	6.4355	0.21821	0.782:0.0:0.0779:0.1401	.	1828;1828;1781	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	2003;2003;1781	ENSP00000386840:K2003I;ENSP00000295237:K2003I;ENSP00000387255:K1781I	ENSP00000295237:K2003I	K	+	2	0	XIRP2	167812156	0.069000	0.21087	0.008000	0.14137	0.262000	0.26303	1.049000	0.30392	0.326000	0.23384	-0.341000	0.08007	AAA		0.443	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168103910	A	T	168103910	3	4	563	1	0	0	0	0	1	0	0	0	17435	14	1	5	6038	5	XIRP2	2	168103910	Missense_Mutation	SNP	A	TCGA-CW-5588-01A-01D-1534-10	70254538	168103910	75095463	11	30424											
HOXD3	3232	broad.mit.edu	37	2	177033982	177033982	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr2:177033982A>C	ENST00000468418.3	+	3	2230	c.140A>C	c.(139-141)cAc>cCc	p.H47P	HOXD3_ENST00000410016.1_Missense_Mutation_p.H47P|HOXD3_ENST00000249440.3_Missense_Mutation_p.H47P			P31249	HXD3_HUMAN	homeobox D3	47					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H47P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGCACCCCCCACCAGCCCTAC	0.587																																																1	Substitution - Missense(1)	kidney(1)											93	94	93					2																	177033982		2203	4300	6503	SO:0001583	missense	3232				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.140A>C	2.37:g.177033982A>C	ENSP00000424734:p.His47Pro		Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951438	0.53186	.	.	ENSG00000128652	ENST00000432796;ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.89617	-2.54;-2.54;-2.54	5.48	5.48	0.80851	.	0.147023	0.64402	D	0.000009	D	0.85044	0.5607	L	0.48642	1.525	0.44492	D	0.997439	B	0.06786	0.001	B	0.04013	0.001	T	0.81178	-0.1051	10	0.46703	T	0.11	.	12.3872	0.55338	0.8596:0.1404:0.0:0.0	.	47	P31249	HXD3_HUMAN	P	47	ENSP00000424734:H47P;ENSP00000386498:H47P;ENSP00000249440:H47P	ENSP00000249440:H47P	H	+	2	0	HOXD3	176742228	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	8.553000	0.90686	2.199000	0.70637	0.533000	0.62120	CAC		0.587	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			C	177033982	A	C	177033982	3	2	563	1	0	0	0	0	1	0	0	0	7325	159	6	5	142	5	HOXD3	2	177033982	Missense_Mutation	SNP	A	TCGA-CW-5588-01A-01D-1534-10	8930072	177033982	66165391	12	30425											
HECW2	57520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	197194348	197194348	+	Silent	SNP	A	A	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr2:197194348A>T	ENST00000260983.3	-	5	704	c.522T>A	c.(520-522)ggT>ggA	p.G174G	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	174	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G174G(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTCCTGAAGCACCTCCCTCCA	0.413																																																1	Substitution - coding silent(1)	kidney(1)											159	141	147					2																	197194348		2203	4300	6503	SO:0001819	synonymous_variant	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.522T>A	2.37:g.197194348A>T			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																				0.413	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197194348	A	T	197194348	2	4	563	1	0	0	0	0	0	0	0	1	7045	146	6	5		5	HECW2	2	197194348	Silent	SNP	A	TCGA-CW-5588-01A-01D-1534-10	20160366	197194348	46005025	13	30426											
ALPPL2	251	hgsc.bcm.edu	37	2	233273011	233273011	+	Missense_Mutation	SNP	C	C	G	rs75920311		TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr2:233273011C>G	ENST00000295453.3	+	6	735	c.683C>G	c.(682-684)cCc>cGc	p.P228R		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	228					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TACATGTTTCCCATGGGGACC	0.612																																																0													89	98	95					2																	233273011		2199	4295	6494	SO:0001583	missense	251			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.683C>G	2.37:g.233273011C>G	ENSP00000295453:p.Pro228Arg		A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	194	0.08882783882783883	45	0.09146341463414634	18	0.049723756906077346	80	0.13986013986013987	51	0.06728232189973615	c	13.23	2.176361	0.38413	.	.	ENSG00000163286	ENST00000295453	D	0.96774	-4.12	3.24	1.12	0.20585	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.053184	0.85682	N	0.000000	T	0.31295	0.0792	H	0.96080	3.765	0.41109	D	0.985721	B	0.25390	0.125	B	0.40677	0.337	T	0.72966	-0.4131	10	0.52906	T	0.07	.	7.2384	0.26082	0.0:0.7275:0.1716:0.1009	.	228	P10696	PPBN_HUMAN	R	228	ENSP00000295453:P228R	ENSP00000295453:P228R	P	+	2	0	ALPPL2	232981255	0.860000	0.29831	0.587000	0.28692	0.582000	0.36321	3.559000	0.53756	0.452000	0.26830	0.205000	0.17691	CCC		0.612	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		G	233273011	C	G	233273011	3	3	563	1	0	0	0	0	1	0	0	0	549	623	22	4	705	4	ALPPL2	2	233273011	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10	36078663	233273011	9926362	14	30427											
PRR21	643905	hgsc.bcm.edu	37	2	240982052	240982052	+	Silent	SNP	C	C	G	rs77588089		TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr2:240982052C>G	ENST00000408934.1	-	1	347	c.348G>C	c.(346-348)tcG>tcC	p.S116S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	116	Pro-rich.							p.S116S(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GAGGCATGGACGAAGGGCCGT	0.627																																																2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)											5	6	6					2																	240982052		1363	2884	4247	SO:0001819	synonymous_variant	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.348G>C	2.37:g.240982052C>G				Silent	SNP	ENST00000408934.1	37	CCDS33417.1																																																																																				0.627	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		G	240982052	C	G	240982052	2	3	563	1	0	0	0	0	0	0	0	1	12597	523	19	4		4	PRR21	2	240982052	Silent	SNP	C	TCGA-CW-5588-01A-01D-1534-10	7709041	240982052	2217321	15	30428											
ITPR1	3708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	4669521	4669521	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr3:4669521G>A	ENST00000443694.2	+	3	238	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	ITPR1_ENST00000423119.2_Missense_Mutation_p.A80T|ITPR1_ENST00000357086.4_Missense_Mutation_p.A80T|ITPR1_ENST00000456211.2_Missense_Mutation_p.A80T|ITPR1_ENST00000544951.1_Missense_Mutation_p.A80T|ITPR1_ENST00000302640.8_Missense_Mutation_p.A80T|ITPR1_ENST00000354582.6_Missense_Mutation_p.A80T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	80					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.A80T(3)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TAAGCCTGGGGCCAACAGCAC	0.522																																																3	Substitution - Missense(3)	kidney(3)											145	144	144					3																	4669521		2051	4217	6268	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.238G>A	3.37:g.4669521G>A	ENSP00000401671:p.Ala80Thr		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440042	0.43326	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84;-4.84;-4.84	5.66	5.66	0.87406	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.051558	0.85682	D	0.000000	D	0.95837	0.8645	N	0.17082	0.46	0.35936	D	0.832898	B;B;B;B;B	0.30236	0.274;0.003;0.006;0.263;0.253	B;B;B;B;B	0.38156	0.113;0.026;0.042;0.266;0.113	D	0.95401	0.8490	10	0.17369	T	0.5	.	19.3389	0.94334	0.0:0.0:1.0:0.0	.	80;80;80;80;80	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	T	80	ENSP00000306253:A80T;ENSP00000346595:A80T;ENSP00000405934:A80T;ENSP00000349597:A80T;ENSP00000397885:A80T;ENSP00000440564:A80T;ENSP00000401671:A80T	ENSP00000306253:A80T	A	+	1	0	ITPR1	4644521	1.000000	0.71417	0.980000	0.43619	0.850000	0.48378	7.930000	0.87610	2.669000	0.90835	0.655000	0.94253	GCC		0.522	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		A	4669521	G	A	4669521	3	1	563	1	0	0	0	0	1	0	0	0	7922	1203	42	2	248	2	ITPR1	3	4669521	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10		4669521	193352909	16	30429											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191492	10191492	+	Missense_Mutation	SNP	G	G	A	rs397516444|rs5030622		TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr3:10191492G>A	ENST00000256474.2	+	3	1325	c.485G>A	c.(484-486)tGc>tAc	p.C162Y	VHL_ENST00000345392.2_Missense_Mutation_p.C121Y|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	162	Interaction with Elongin BC complex.		C -> F (in VHLD; type I; No effect on interaction with HIF1A nor on HIF1A degradation). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9452032, ECO:0000269|PubMed:9829911}.|C -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|C -> W (in VHLD; type I-II; dbSNP:rs5030622). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|C -> Y (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.C162Y(5)|p.C162F(3)|p.L158fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AAAGAGCGATGCCTCCAGGTT	0.507		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Substitution - Missense(8)|Deletion - Frameshift(1)	kidney(9)	GRCh37	CI011898|CM951291|CM951292	VHL	I|M							94	85	88					3																	10191492		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.485G>A	3.37:g.10191492G>A	ENSP00000256474:p.Cys162Tyr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799771	0.70567	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99832	-7.02;-7.02	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.108704	0.64402	D	0.000008	D	0.99729	0.9894	M	0.66939	2.045	0.46586	D	0.999112	D;D	0.89917	0.997;1.0	D;D	0.83275	0.982;0.996	D	0.96961	0.9701	10	0.87932	D	0	-7.1517	15.8663	0.79067	0.0:0.0:1.0:0.0	.	121;162	P40337-2;P40337	.;VHL_HUMAN	Y	162;121;80	ENSP00000256474:C162Y;ENSP00000344757:C121Y	ENSP00000256474:C162Y	C	+	2	0	VHL	10166492	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	4.965000	0.63708	2.676000	0.91093	0.655000	0.94253	TGC		0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10191492	G	A	10191492	3	1	563	1	0	0	0	0	1	0	0	0	17167	1319	46	2	495	2	VHL	3	10191492	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10	5521971	10191492	187830938	17	30430											
CEP70	80321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	138216885	138216885	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr3:138216885G>A	ENST00000264982.3	-	17	1986	c.1720C>T	c.(1720-1722)Ctt>Ttt	p.L574F	CEP70_ENST00000542237.1_Missense_Mutation_p.L554F|CEP70_ENST00000489254.1_Missense_Mutation_p.L422F|CEP70_ENST00000484888.1_Missense_Mutation_p.L574F	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	574					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.L574F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						AAGATTTCAAGTAGATCATTA	0.343																																																1	Substitution - Missense(1)	kidney(1)											106	103	104					3																	138216885		2203	4300	6503	SO:0001583	missense	80321			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1720C>T	3.37:g.138216885G>A	ENSP00000264982:p.Leu574Phe		B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796425	0.70567	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000459695	T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000002	T	0.45175	0.1329	L	0.47190	1.495	0.50171	D	0.999857	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	T	0.35001	-0.9806	10	0.72032	D	0.01	-10.2563	15.9899	0.80197	0.0:0.0:1.0:0.0	.	422;554;574	B7Z2D2;F5GZX8;Q8NHQ1	.;.;CEP70_HUMAN	F	574;554;422;574;556;47	ENSP00000264982:L574F;ENSP00000444128:L554F;ENSP00000417821:L422F;ENSP00000419231:L574F;ENSP00000419833:L556F;ENSP00000418552:L47F	ENSP00000264982:L574F	L	-	1	0	CEP70	139699575	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	5.563000	0.67352	2.616000	0.88540	0.655000	0.94253	CTT		0.343	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		A	138216885	G	A	138216885	3	1	563	1	0	0	0	0	1	0	0	0	3261	1029	36	2	81	2	CEP70	3	138216885	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10	128025393	138216885	59805545	18	30431											
FAM193A	8603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2733519	2733519	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr4:2733519C>T	ENST00000324666.5	+	20	4073	c.3722C>T	c.(3721-3723)gCt>gTt	p.A1241V	FAM193A_ENST00000502458.1_Missense_Mutation_p.A1222V|FAM193A_ENST00000505311.1_3'UTR|FAM193A_ENST00000382839.3_Missense_Mutation_p.A1200V	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1241								p.A1200V(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTGGATTCTGCTAGACAGACC	0.493																																																1	Substitution - Missense(1)	kidney(1)											140	126	131					4																	2733519		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3722C>T	4.37:g.2733519C>T	ENSP00000324587:p.Ala1241Val		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987256	0.93106	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000502458	T;T;T	0.57107	0.42;0.42;0.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	N	0.11201	0.11	0.80722	D	1	B;B;P;P	0.51147	0.02;0.167;0.857;0.942	B;B;P;D	0.64687	0.061;0.061;0.784;0.928	T	0.60311	-0.7288	10	0.42905	T	0.14	-7.5125	17.5935	0.88004	0.0:1.0:0.0:0.0	.	1222;1241;1222;1200	E9PFA1;P78312;B7ZM85;P78312-2	.;F193A_HUMAN;.;.	V	1200;1241;1222	ENSP00000372290:A1200V;ENSP00000324587:A1241V;ENSP00000427505:A1222V	ENSP00000324587:A1241V	A	+	2	0	FAM193A	2703317	1.000000	0.71417	0.375000	0.26029	0.977000	0.68977	7.526000	0.81920	2.408000	0.81797	0.561000	0.74099	GCT		0.493	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		T	2733519	C	T	2733519	3	4	563	1	0	0	0	0	1	0	0	0	5526	797	28	2	3665	2	FAM193A	4	2733519	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10		2733519	188420757	19	30432											
C4orf21	55345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	113468532	113468532	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr4:113468532T>A	ENST00000505019.1	-	24	5632	c.5507A>T	c.(5506-5508)gAt>gTt	p.D1836V	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1836						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.D1836V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTGTTTGGGATCCCCAACAAG	0.358																																																1	Substitution - Missense(1)	kidney(1)											87	78	81					4																	113468532		2203	4300	6503	SO:0001583	missense	55345																														ENST00000505019.1:c.5507A>T	4.37:g.113468532T>A	ENSP00000424737:p.Asp1836Val		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	T	22.8	4.340655	0.81911	.	.	ENSG00000138658	ENST00000505019	D	0.98926	-5.24	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.97987	1.0352	10	0.87932	D	0	-37.3326	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1836;294	G5EA02;B3KQX2	.;.	V	1836	ENSP00000424737:D1836V	ENSP00000424737:D1836V	D	-	2	0	C4orf21	113687981	1.000000	0.71417	0.979000	0.43373	0.979000	0.70002	5.203000	0.65174	2.263000	0.75096	0.533000	0.62120	GAT		0.358	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			A	113468532	T	A	113468532	3	1	563	1	0	0	0	0	1	0	0	0	2256	1435	50	5	827	5	C4orf21	4	113468532	Missense_Mutation	SNP	T	TCGA-CW-5588-01A-01D-1534-10	110735013	113468532	77685744	20	30433											
CCRN4L	25819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	139966122	139966122	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr4:139966122C>G	ENST00000280614.2	+	3	983	c.790C>G	c.(790-792)Cag>Gag	p.Q264E	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	264					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q264E(1)		kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					GAAAACCAACCAGGTGGCCAT	0.498																																					Ovarian(144;566 1842 19130 21379 22209)											1	Substitution - Missense(1)	kidney(1)											84	81	82					4																	139966122		2203	4300	6503	SO:0001583	missense	25819			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.790C>G	4.37:g.139966122C>G	ENSP00000280614:p.Gln264Glu		D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	ENST00000280614.2	37	CCDS3743.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853052	0.71719	.	.	ENSG00000151014	ENST00000280614	T	0.28666	1.6	5.5	5.5	0.81552	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	M	0.73372	2.23	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	T	0.54443	-0.8293	9	.	.	.	-24.7176	19.3911	0.94583	0.0:1.0:0.0:0.0	.	264	Q9UK39	NOCT_HUMAN	E	264	ENSP00000280614:Q264E	.	Q	+	1	0	CCRN4L	140185572	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	7.706000	0.84615	2.600000	0.87896	0.555000	0.69702	CAG		0.498	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		G	139966122	C	G	139966122	3	3	563	1	0	0	0	0	1	0	0	0	2953	595	21	4	800	4	CCRN4L	4	139966122	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10	26497590	139966122	51188154	21	30434											
GALNT7	51809	hgsc.bcm.edu;ucsc.edu	37	4	174090012	174090013	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr4:174090012_174090013insAA	ENST00000265000.4	+	1	109_110	c.26_27insAA	c.(25-30)ttacgcfs	p.R10fs	RP11-10K16.1_ENST00000499322.2_RNA|RP11-10K16.1_ENST00000500914.2_RNA|GALNT7_ENST00000512285.1_Frame_Shift_Ins_p.R10fs|RP11-10K16.1_ENST00000510523.1_RNA	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	10					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GGGTTCATCTTACGCAGTTTGC	0.663																																																0																																										SO:0001589	frameshift_variant	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	Exception_encountered	4.37:g.174090012_174090013insAA	ENSP00000265000:p.Arg10fs		B3KQU3|Q7Z5W7|Q9UJ28	Frame_Shift_Ins	INS	ENST00000265000.4	37	CCDS3815.1																																																																																				0.663	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		AA	174090013	-	AA	174090012	7	5	563	1	0	1	1	0	0	0	0	0	6220	1764	61	0	28	0	GALNT7	4	174090012	Frame_Shift_Ins	INS	-	TCGA-CW-5588-01A-01D-1534-10	34123890	174090012	17064264	22	30435											
DHX29	54505	broad.mit.edu;hgsc.bcm.edu	37	5	54579538	54579538	+	Silent	SNP	T	T	C			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr5:54579538T>C	ENST00000251636.5	-	11	1606	c.1458A>G	c.(1456-1458)aaA>aaG	p.K486K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	486						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.K486K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GATCACGTGGTTTATTGGTTT	0.383																																																1	Substitution - coding silent(1)	kidney(1)											165	150	155					5																	54579538		2203	4300	6503	SO:0001819	synonymous_variant	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1458A>G	5.37:g.54579538T>C			O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	CCDS34158.1																																																																																				0.383	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		C	54579538	T	C	54579538	2	2	563	1	0	0	0	0	0	0	0	1	4505	1722	60	3		3	DHX29	5	54579538	Silent	SNP	T	TCGA-CW-5588-01A-01D-1534-10		54579538	126335722	23	30436											
BHMT	635	broad.mit.edu;hgsc.bcm.edu	37	5	78423703	78423703	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr5:78423703G>A	ENST00000274353.5	+	7	1041	c.934G>A	c.(934-936)Gag>Aag	p.E312K	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.E159K	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	312	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.E312K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GGCAATTGCAGAGGAGCTGGC	0.537																																																1	Substitution - Missense(1)	kidney(1)											41	43	43					5																	78423703		2203	4297	6500	SO:0001583	missense	635			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.934G>A	5.37:g.78423703G>A	ENSP00000274353:p.Glu312Lys		Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477906	0.96291	.	.	ENSG00000145692	ENST00000274353;ENST00000524080	T;T	0.33216	1.42;1.42	5.14	5.14	0.70334	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	L	0.61387	1.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.44952	-0.9294	10	0.30854	T	0.27	-20.2688	18.9602	0.92674	0.0:0.0:1.0:0.0	.	159;312	E5RJH0;Q93088	.;BHMT1_HUMAN	K	312;159	ENSP00000274353:E312K;ENSP00000428240:E159K	ENSP00000274353:E312K	E	+	1	0	BHMT	78459459	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.605000	0.98321	2.547000	0.85894	0.650000	0.86243	GAG		0.537	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		A	78423703	G	A	78423703	3	1	563	1	0	0	0	0	1	0	0	0	1425	943	33	2	960	2	BHMT	5	78423703	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10	23844165	78423703	102491557	24	30437											
FAM193B	54540	broad.mit.edu;hgsc.bcm.edu	37	5	176951610	176951610	+	Silent	SNP	C	C	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr5:176951610C>T	ENST00000514747.1	-	6	1920	c.1872G>A	c.(1870-1872)ctG>ctA	p.L624L	FAM193B_ENST00000443375.2_Silent_p.L591L|FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Silent_p.L250L	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	704						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L591L(1)|p.L303L(1)		kidney(1)|large_intestine(3)	4						CAGGCTCAGGCAGCTCCTGCT	0.642																																																2	Substitution - coding silent(2)	kidney(2)											30	33	32					5																	176951610		2013	4174	6187	SO:0001819	synonymous_variant	54540				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1872G>A	5.37:g.176951610C>T			E9PET5|Q9NW00	Silent	SNP	ENST00000514747.1	37	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	C	2.655	-0.280977	0.05642	.	.	ENSG00000146067	ENST00000524677	.	.	.	5.75	-5.55	0.02536	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.31530	N	0.661284	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	-2.2072	1.7689	0.03008	0.1448:0.3187:0.1653:0.3712	.	.	.	.	T	310	.	.	A	-	1	0	FAM193B	176884216	0.000000	0.05858	0.700000	0.30305	0.505000	0.33919	-2.831000	0.00743	-0.795000	0.04462	-0.367000	0.07326	GCC		0.642	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		T	176951610	C	T	176951610	2	4	563	1	0	0	0	0	0	0	0	1	5527	697	25	2		2	FAM193B	5	176951610	Silent	SNP	C	TCGA-CW-5588-01A-01D-1534-10	98527907	176951610	3963650	25	30438											
RIOK1	83732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7395314	7395314	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr6:7395314C>T	ENST00000379834.2	+	3	812	c.305C>T	c.(304-306)tCa>tTa	p.S102L		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	102							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S95L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GACAGCAGTTCAGCCAAAATG	0.393																																																1	Substitution - Missense(1)	kidney(1)											58	54	55					6																	7395314		2203	4300	6503	SO:0001583	missense	83732			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.305C>T	6.37:g.7395314C>T	ENSP00000369162:p.Ser102Leu		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981421	0.34942	.	.	ENSG00000124784	ENST00000379834	T	0.05925	3.37	5.55	4.68	0.58851	.	0.534882	0.19993	N	0.101518	T	0.03783	0.0107	M	0.76838	2.35	0.27296	N	0.957704	B	0.10296	0.003	B	0.06405	0.002	T	0.31081	-0.9956	10	0.26408	T	0.33	-0.2772	11.9661	0.53035	0.0:0.9198:0.0:0.0802	.	102	Q9BRS2	RIOK1_HUMAN	L	102	ENSP00000369162:S102L	ENSP00000369162:S102L	S	+	2	0	RIOK1	7340313	0.916000	0.31088	0.227000	0.23927	0.719000	0.41307	3.232000	0.51302	1.349000	0.45751	0.591000	0.81541	TCA		0.393	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		T	7395314	C	T	7395314	3	4	563	1	0	0	0	0	1	0	0	0	13383	838	29	2	315	2	RIOK1	6	7395314	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10		7395314	163719753	26	30439											
SCGN	10590	broad.mit.edu;hgsc.bcm.edu	37	6	25670266	25670266	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr6:25670266A>C	ENST00000377961.2	+	6	601	c.433A>C	c.(433-435)Att>Ctt	p.I145L	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	145						cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.I145L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAAAAAGGCCATTTCTGAGGC	0.463																																																1	Substitution - Missense(1)	kidney(1)											152	156	155					6																	25670266		2203	4300	6503	SO:0001583	missense	10590			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.433A>C	6.37:g.25670266A>C	ENSP00000367197:p.Ile145Leu		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.435246	0.43224	.	.	ENSG00000079689	ENST00000377961	T	0.06371	3.31	5.6	-2.61	0.06171	EF-hand-like domain (1);	0.405182	0.30126	N	0.010354	T	0.01661	0.0053	L	0.33485	1.01	0.23043	N	0.998383	B	0.26602	0.154	B	0.27262	0.078	T	0.37686	-0.9695	10	0.51188	T	0.08	.	11.1085	0.48218	0.5858:0.0:0.4142:0.0	.	145	O76038	SEGN_HUMAN	L	145	ENSP00000367197:I145L	ENSP00000367197:I145L	I	+	1	0	SCGN	25778245	0.015000	0.18098	0.000000	0.03702	0.984000	0.73092	0.252000	0.18278	-0.739000	0.04809	0.460000	0.39030	ATT		0.463	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			C	25670266	A	C	25670266	3	2	563	1	0	0	0	0	1	0	0	0	13909	217	8	5	455	5	SCGN	6	25670266	Missense_Mutation	SNP	A	TCGA-CW-5588-01A-01D-1534-10	18274952	25670266	145444801	27	30440											
HIST1H2BM	8342	hgsc.bcm.edu;ucsc.edu	37	6	27782975	27782975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr6:27782975delG	ENST00000359465.4	+	1	154	c.154delG	c.(154-156)gacfs	p.D52fs	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	52					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GGTCCACCCCGACACCGGCAT	0.527																																																0													190	181	184					6																	27782975		2203	4300	6503	SO:0001589	frameshift_variant	8342			Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"Histones / Replication-dependent"	4750	protein-coding gene	gene with protein product		602802	"H2B histone family, member E", "histone 1, H2bm"	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.154delG	6.37:g.27782975delG	ENSP00000352442:p.Asp52fs		Q6NWQ3	Frame_Shift_Del	DEL	ENST00000359465.4	37	CCDS4629.1																																																																																				0.527	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		-	27782975	G	-	27782975	7	5	563	1	0	1	0	1	0	0	0	0	7154	1058	37	0	156	0	HIST1H2BM	6	27782975	Frame_Shift_Del	DEL	G	TCGA-CW-5588-01A-01D-1534-10	2112709	27782975	143332092	28	30441											
ZNF193	7746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28195519	28195519	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr6:28195519C>G	ENST00000252207.5	+	3	620	c.472C>G	c.(472-474)Cta>Gta	p.L158V	ZSCAN9_ENST00000425468.2_Missense_Mutation_p.L158V|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.L158V|ZSCAN9_ENST00000527436.1_Missense_Mutation_p.L158V|ZSCAN9_ENST00000531981.1_3'UTR	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	158					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L158V(1)|p.L158L(1)									GATGGTGCCTCTAGCAGAGCA	0.483																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											71	65	67					6																	28195519		2203	4300	6503	SO:0001583	missense	0			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"-", "Zinc fingers, C2H2-type"	12984	protein-coding gene	gene with protein product		602246	"zinc finger protein 193"	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.472C>G	6.37:g.28195519C>G	ENSP00000252207:p.Leu158Val		B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	ENST00000252207.5	37	CCDS4646.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606676	0.28623	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	T;T;T;T;T	0.08458	3.09;3.17;3.17;4.18;3.24	2.69	-0.304	0.12788	Transcription regulator SCAN (1);	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B;B	0.21452	0.056;0.056	B;B	0.16722	0.016;0.016	T	0.48103	-0.9064	9	0.19147	T	0.46	.	5.9025	0.18974	0.2079:0.3856:0.4065:0.0	.	158;158	E7EVQ2;O15535	.;ZN193_HUMAN	V	158	ENSP00000404074:L158V;ENSP00000252207:L158V;ENSP00000433402:L158V;ENSP00000433468:L158V;ENSP00000436166:L158V	ENSP00000252207:L158V	L	+	1	2	ZNF193	28303498	0.000000	0.05858	0.001000	0.08648	0.710000	0.40934	-2.288000	0.01150	-0.101000	0.12219	-0.223000	0.12442	CTA		0.483	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299		G	28195519	C	G	28195519	3	3	563	1	0	0	0	0	1	0	0	0	17762	912	32	4	478	4	ZNF193	6	28195519	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10	412544	28195519	142919548	29	30442											
MAS1L	116511	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	29454618	29454618	+	Silent	SNP	T	T	A	rs376444510		TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr6:29454618T>A	ENST00000377127.3	-	1	1120	c.1062A>T	c.(1060-1062)ccA>ccT	p.P354P		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	354					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P354P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GTTGCTCCATTGGGTCGATGC	0.507																																					NSCLC(153;755 1987 3859 11251 32945)											1	Substitution - coding silent(1)	kidney(1)											178	172	174					6																	29454618		2203	4300	6503	SO:0001819	synonymous_variant	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.1062A>T	6.37:g.29454618T>A			Q5SUN5	Silent	SNP	ENST00000377127.3	37	CCDS4661.1																																																																																				0.507	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		A	29454618	T	A	29454618	2	1	563	1	0	0	0	0	0	0	0	1	9323	1799	63	5		5	MAS1L	6	29454618	Silent	SNP	T	TCGA-CW-5588-01A-01D-1534-10	1259099	29454618	141660449	30	30443											
GLP1R	2740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	39025301	39025301	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr6:39025301C>T	ENST00000373256.4	+	3	272	c.229C>T	c.(229-231)Cca>Tca	p.P77S		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	77					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.P77S(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	AGATGGGGAGCCAGGCTCGTT	0.622																																																1	Substitution - Missense(1)	kidney(1)											131	105	114					6																	39025301		2203	4300	6503	SO:0001583	missense	2740				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.229C>T	6.37:g.39025301C>T	ENSP00000362353:p.Pro77Ser		Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071190	0.36566	.	.	ENSG00000112164	ENST00000373256	T	0.63744	-0.06	5.72	4.84	0.62591	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.092187	0.48286	D	0.000200	T	0.67031	0.2850	M	0.64567	1.98	0.20196	N	0.999926	D	0.62365	0.991	D	0.69824	0.966	T	0.64706	-0.6344	10	0.66056	D	0.02	.	14.5087	0.67769	0.0:0.8521:0.1479:0.0	.	77	P43220	GLP1R_HUMAN	S	77	ENSP00000362353:P77S	ENSP00000362353:P77S	P	+	1	0	GLP1R	39133279	0.963000	0.33076	0.049000	0.19019	0.094000	0.18550	3.584000	0.53936	1.399000	0.46721	-0.176000	0.13171	CCA		0.622	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			T	39025301	C	T	39025301	3	4	563	1	0	0	0	0	1	0	0	0	6454	739	26	2	239	2	GLP1R	6	39025301	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10	9570683	39025301	132089766	31	30444											
USP49	25862	broad.mit.edu	37	6	41773626	41773626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr6:41773626G>A	ENST00000394253.3	-	3	1425	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	USP49_ENST00000373006.1_Nonsense_Mutation_p.R366*|USP49_ENST00000373009.3_Nonsense_Mutation_p.R366*|USP49_ENST00000373010.1_Nonsense_Mutation_p.R366*|USP49_ENST00000297229.2_Nonsense_Mutation_p.R366*			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	366	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R366*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CACATGACTCGGAAGAGGGTG	0.597																																																1	Substitution - Nonsense(1)	kidney(1)											66	64	65					6																	41773626		2203	4300	6503	SO:0001587	stop_gained	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1096C>T	6.37:g.41773626G>A	ENSP00000377797:p.Arg366*		Q5T3D9|Q5T3E0|Q96CK4	Nonsense_Mutation	SNP	ENST00000394253.3	37		.	.	.	.	.	.	.	.	.	.	G	35	5.519976	0.96416	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1379	13.4991	0.61442	0.0:0.0:0.8036:0.1964	.	.	.	.	X	366	.	ENSP00000297229:R366X	R	-	1	2	USP49	41881604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.532000	0.53553	2.521000	0.84997	0.655000	0.94253	CGA		0.597	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		A	41773626	G	A	41773626	4	1	563	1	0	0	0	0	0	1	0	0	17085	1124	39	1	842	1	USP49	6	41773626	Nonsense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10	2748325	41773626	129341441	32	30445											
FSCN1	6624	broad.mit.edu	37	7	5643128	5643128	+	Splice_Site	SNP	A	A	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr7:5643128A>T	ENST00000382361.3	+	3	1105	c.991A>T	c.(991-993)Aat>Tat	p.N331Y	FSCN1_ENST00000340250.6_Splice_Site_p.N310Y	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	331					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)	p.N331Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ATCCCCCAGGAATGCCAGCTG	0.637																																																1	Substitution - Missense(1)	kidney(1)											59	60	60					7																	5643128		2203	4300	6503	SO:0001630	splice_region_variant	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.990-1A>T	7.37:g.5643128A>T			A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063487	0.55432	.	.	ENSG00000075618	ENST00000340250;ENST00000382361;ENST00000444748;ENST00000447103;ENST00000405801;ENST00000535097	T;T	0.44881	0.91;1.5	4.45	3.28	0.37604	Fascin domain (1);Actin cross-linking (1);	0.229893	0.35349	N	0.003261	T	0.50735	0.1633	M	0.73598	2.24	0.42819	D	0.993983	P;P	0.44195	0.729;0.828	B;P	0.49853	0.338;0.624	T	0.53129	-0.8482	10	0.87932	D	0	-0.2812	8.7032	0.34338	0.9046:0.0:0.0954:0.0	.	310;331	B3KTA3;Q16658	.;FSCN1_HUMAN	Y	310;331;53;53;53;53	ENSP00000339729:N310Y;ENSP00000371798:N331Y	ENSP00000339729:N310Y	N	+	1	0	FSCN1	5609654	1.000000	0.71417	0.989000	0.46669	0.806000	0.45545	2.790000	0.47821	0.661000	0.30985	0.459000	0.35465	AAT		0.637	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088	Missense_Mutation	T	5643128	A	T	5643128	5	4	563	1	0	0	0	0	0	0	1	0	6069	260	9	5	1001	5	FSCN1	7	5643128	Splice_Site	SNP	A	TCGA-CW-5588-01A-01D-1534-10		5643128	153495535	33	30446											
LONRF1	91694	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	12586770	12586770	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr8:12586770A>C	ENST00000398246.3	-	9	1829	c.1760T>G	c.(1759-1761)tTt>tGt	p.F587C	MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000525024.1_Missense_Mutation_p.F13C|LONRF1_ENST00000533751.1_Missense_Mutation_p.F230C	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	587	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.F587C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TCTTGGCTCAAATACATGGAG	0.388																																																1	Substitution - Missense(1)	kidney(1)											91	86	88					8																	12586770		1903	4118	6021	SO:0001583	missense	91694			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1760T>G	8.37:g.12586770A>C	ENSP00000381298:p.Phe587Cys		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226230	0.79576	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.05	5.05	0.67936	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.93375	3.41	0.80722	D	1	D;D	0.61080	0.987;0.989	D;D	0.72625	0.962;0.978	T	0.81395	-0.0952	10	0.48119	T	0.1	-20.4606	15.5017	0.75703	1.0:0.0:0.0:0.0	.	576;587	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	C	587;13;230;190	ENSP00000381298:F587C;ENSP00000436770:F13C;ENSP00000432130:F230C;ENSP00000433327:F190C	ENSP00000381298:F587C	F	-	2	0	LONRF1	12631141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.210000	0.71456	0.460000	0.39030	TTT		0.388	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		C	12586770	A	C	12586770	3	2	563	1	0	0	0	0	1	0	0	0	8896	14	1	5	577	5	LONRF1	8	12586770	Missense_Mutation	SNP	A	TCGA-CW-5588-01A-01D-1534-10		12586770	133777252	34	30447											
AQP7	364	hgsc.bcm.edu	37	9	33386469	33386469	+	Silent	SNP	C	C	T	rs78695486	byFrequency	TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr9:33386469C>T	ENST00000537089.1	-	4	381	c.63G>A	c.(61-63)ccG>ccA	p.P21P	AQP7_ENST00000377425.4_Silent_p.P56P|AQP7_ENST00000539936.1_Silent_p.P113P|AQP7_ENST00000541274.1_Silent_p.P21P			O14520	AQP7_HUMAN	aquaporin 7	113					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GCACATAGACCGGAAACTTCC	0.627													-|||	2	0.000399361	0.0008	0.0	5008	,	,		16785	0.0		0.001	False		,,,				2504	0.0															0													32	31	32					9																	33386469		2203	4300	6503	SO:0001819	synonymous_variant	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.63G>A	9.37:g.33386469C>T			Q08E94|Q5T5L9|Q8NHM3	Silent	SNP	ENST00000537089.1	37																																																																																					0.627	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		T	33386469	C	T	33386469	2	4	563	1	0	0	0	0	0	0	0	1	831	639	23	1		1	AQP7	9	33386469	Silent	SNP	C	TCGA-CW-5588-01A-01D-1534-10		33386469	107826962	35	30448											
SETX	23064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	135173490	135173490	+	Silent	SNP	G	G	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr9:135173490G>A	ENST00000224140.5	-	13	5940	c.5758C>T	c.(5758-5760)Ctg>Ttg	p.L1920L	SETX_ENST00000372169.2_Silent_p.L1920L|SETX_ENST00000393220.1_Silent_p.L1920L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1920					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.L1920L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTTGTAGTCAGTAAATCTTTT	0.368																																																1	Substitution - coding silent(1)	kidney(1)											111	107	108					9																	135173490		2203	4300	6503	SO:0001819	synonymous_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5758C>T	9.37:g.135173490G>A			A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	CCDS6947.1																																																																																				0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		A	135173490	G	A	135173490	2	1	563	1	0	0	0	0	0	0	0	1	14147	1020	36	2		2	SETX	9	135173490	Silent	SNP	G	TCGA-CW-5588-01A-01D-1534-10	101787021	135173490	6039941	36	30449											
SLC39A12	221074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	18276482	18276482	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr10:18276482C>A	ENST00000377369.2	+	7	1444	c.1171C>A	c.(1171-1173)Cat>Aat	p.H391N	SLC39A12_ENST00000377371.3_Missense_Mutation_p.H391N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.H257N|SLC39A12_ENST00000377374.4_Missense_Mutation_p.H391N	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	391					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.H391N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGTCCTTTTCCATAGCTGTGA	0.547																																																1	Substitution - Missense(1)	kidney(1)											158	127	138					10																	18276482		2203	4300	6503	SO:0001583	missense	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1171C>A	10.37:g.18276482C>A	ENSP00000366586:p.His391Asn		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880124	0.33162	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.84	3.81	0.43845	.	0.502768	0.23608	N	0.046369	T	0.13329	0.0323	N	0.00510	-1.415	0.32743	N	0.507383	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.001;0.003	T	0.11108	-1.0601	10	0.15952	T	0.53	-3.9863	12.4521	0.55682	0.5836:0.4164:0.0:0.0	.	391;391;391	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	N	391;391;391;257;311	ENSP00000366586:H391N;ENSP00000366591:H391N;ENSP00000366588:H391N;ENSP00000440445:H257N	ENSP00000366586:H391N	H	+	1	0	SLC39A12	18316488	1.000000	0.71417	0.935000	0.37517	0.978000	0.69477	2.623000	0.46435	1.441000	0.47550	0.655000	0.94253	CAT		0.547	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		A	18276482	C	A	18276482	3	1	563	1	0	0	0	0	1	0	0	0	14621	594	21	4	1193	4	SLC39A12	10	18276482	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10		18276482	117258265	37	30450											
ITGB1	3688	hgsc.bcm.edu	37	10	33217098	33217098	+	Silent	SNP	G	G	A	rs35057436	byFrequency	TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr10:33217098G>A	ENST00000396033.2	-	5	606	c.471C>T	c.(469-471)gaC>gaT	p.D157D	ITGB1_ENST00000302278.3_Silent_p.D157D|ITGB1_ENST00000374956.4_Silent_p.D157D|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_Silent_p.D157D	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	157	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)	TCTCCAAATCGTCTTTCATTG	0.393													G|||	30	0.00599042	0.003	0.0115	5008	,	,		18905	0.0		0.008	False		,,,				2504	0.0102															0								G	,,	12,4394	19.1+/-41.9	0,12,2191	148	147	148		471,471,471	-4.6	0.8	10	dbSNP_126	148	99,8501	54.4+/-115.2	0,99,4201	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGB1	NM_002211.3,NM_033668.2,NM_133376.2	,,	0,111,6392	AA,AG,GG		1.1512,0.2724,0.8535	,,	157/799,157/802,157/799	33217098	111,12895	2203	4300	6503	SO:0001819	synonymous_variant	3688			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.471C>T	10.37:g.33217098G>A			A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	37	CCDS7174.1																																																																																				0.393	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		A	33217098	G	A	33217098	2	1	563	1	0	0	0	0	0	0	0	1	7892	1136	40	1		1	ITGB1	10	33217098	Silent	SNP	G	TCGA-CW-5588-01A-01D-1534-10	14940616	33217098	102317649	38	30451											
PDZD8	118987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	119044693	119044693	+	Silent	SNP	T	T	C			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr10:119044693T>C	ENST00000334464.5	-	5	1790	c.1551A>G	c.(1549-1551)tcA>tcG	p.S517S	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	517					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.S517S(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATGACTTAATGATTGTGCCT	0.398																																																1	Substitution - coding silent(1)	kidney(1)											271	261	264					10																	119044693		2203	4300	6503	SO:0001819	synonymous_variant	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1551A>G	10.37:g.119044693T>C			Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	CCDS7600.1																																																																																				0.398	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		C	119044693	T	C	119044693	2	2	563	1	0	0	0	0	0	0	0	1	11707	1451	51	3		3	PDZD8	10	119044693	Silent	SNP	T	TCGA-CW-5588-01A-01D-1534-10	85827595	119044693	16490054	39	30452											
FAM45A	404636	broad.mit.edu;hgsc.bcm.edu	37	10	120871395	120871395	+	Missense_Mutation	SNP	A	A	C	rs371713194		TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr10:120871395A>C	ENST00000361432.2	+	3	313	c.287A>C	c.(286-288)gAt>gCt	p.D96A	FAM45A_ENST00000544016.1_5'UTR|FAM45A_ENST00000535029.1_Missense_Mutation_p.D96A	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	96								p.D96A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ACCGCCAAAGATTTTAACCCA	0.299																																																1	Substitution - Missense(1)	kidney(1)											144	145	145					10																	120871395		2203	4298	6501	SO:0001583	missense	404636			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.287A>C	10.37:g.120871395A>C	ENSP00000354688:p.Asp96Ala		B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	CCDS7609.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447852	0.84101	.	.	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.977;0.989;0.977	T	0.78463	-0.2194	9	0.72032	D	0.01	.	13.8633	0.63573	1.0:0.0:0.0:0.0	.	23;88;96	B4DNL9;Q8TCE6-2;Q8TCE6	.;.;FA45A_HUMAN	A	96	.	ENSP00000354688:D96A	D	+	2	0	FAM45A	120861385	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.057000	0.89457	2.078000	0.62432	0.460000	0.39030	GAT		0.299	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		C	120871395	A	C	120871395	3	2	563	1	0	0	0	0	1	0	0	0	5566	333	12	5	297	5	FAM45A	10	120871395	Missense_Mutation	SNP	A	TCGA-CW-5588-01A-01D-1534-10	1826702	120871395	14663352	40	30453											
OR4A5	81318	hgsc.bcm.edu;ucsc.edu	37	11	51411740	51411740	+	Missense_Mutation	SNP	A	A	G	rs35083184	byFrequency	TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr11:51411740A>G	ENST00000319760.6	-	1	708	c.656T>C	c.(655-657)cTa>cCa	p.L219P		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	219			L -> Q (in dbSNP:rs35083184).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AAGGGAGCTTAGGATGACTCC	0.438																																																0													60	60	60					11																	51411740		2201	4295	6496	SO:0001583	missense	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.656T>C	11.37:g.51411740A>G	ENSP00000367664:p.Leu219Pro		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	7.324	0.617595	0.14129	.	.	ENSG00000221840	ENST00000319760	T	0.00249	8.44	1.93	0.659	0.17861	GPCR, rhodopsin-like superfamily (1);	0.204155	0.24258	N	0.040117	T	0.00580	0.0019	M	0.92317	3.295	0.20074	N	0.999934	D	0.67145	0.996	D	0.76071	0.987	T	0.40421	-0.9564	10	0.87932	D	0	.	6.1148	0.20120	0.7386:0.2614:0.0:0.0	.	219	Q8NH83	OR4A5_HUMAN	P	219	ENSP00000367664:L219P	ENSP00000367664:L219P	L	-	2	0	OR4A5	51268316	0.004000	0.15560	0.262000	0.24481	0.026000	0.11368	1.313000	0.33585	0.166000	0.19597	0.136000	0.15936	CTA		0.438	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		G	51411740	A	G	51411740	3	3	563	1	0	0	0	0	1	0	0	0	11045	420	15	3	295	3	OR4A5	11	51411740	Missense_Mutation	SNP	A	TCGA-CW-5588-01A-01D-1534-10		51411740	83594776	41	30454											
PRDM10	56980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	129794821	129794821	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr11:129794821A>G	ENST00000360871.3	-	12	2065	c.1834T>C	c.(1834-1836)Ttc>Ctc	p.F612L	PRDM10_ENST00000526082.1_Missense_Mutation_p.F530L|PRDM10_ENST00000528746.1_Missense_Mutation_p.F586L|PRDM10_ENST00000423662.2_Missense_Mutation_p.F530L|PRDM10_ENST00000304538.6_Missense_Mutation_p.F526L|PRDM10_ENST00000358825.5_Missense_Mutation_p.F616L	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.F612L(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGGCAGGTGAAGTAGCCATCA	0.418																																																1	Substitution - Missense(1)	kidney(1)											107	109	109					11																	129794821		2201	4297	6498	SO:0001583	missense	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1834T>C	11.37:g.129794821A>G	ENSP00000354118:p.Phe612Leu		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	A	31	5.076262	0.94000	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.050083	0.85682	D	0.000000	T	0.34919	0.0914	L	0.52206	1.635	0.58432	D	0.999999	P;P;P;P;D;P	0.69078	0.953;0.942;0.953;0.942;0.997;0.942	P;P;P;P;P;P	0.62813	0.672;0.543;0.672;0.543;0.907;0.543	T	0.04115	-1.0976	10	0.72032	D	0.01	-27.2871	15.9869	0.80160	1.0:0.0:0.0:0.0	.	526;612;616;530;526;530	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	L	616;526;612;530;586;530;329	ENSP00000351686:F616L;ENSP00000302669:F526L;ENSP00000354118:F612L;ENSP00000398431:F530L;ENSP00000431262:F586L;ENSP00000432237:F530L;ENSP00000435940:F329L	ENSP00000302669:F526L	F	-	1	0	PRDM10	129300031	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.711000	0.91396	2.171000	0.68590	0.533000	0.62120	TTC		0.418	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		G	129794821	A	G	129794821	3	3	563	1	0	0	0	0	1	0	0	0	12456	72	3	3	1676	3	PRDM10	11	129794821	Missense_Mutation	SNP	A	TCGA-CW-5588-01A-01D-1534-10	78383081	129794821	5211695	42	30455											
TMTC1	83857	broad.mit.edu;hgsc.bcm.edu	37	12	29709847	29709847	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr12:29709847G>T	ENST00000539277.1	-	10	1677	c.1619C>A	c.(1618-1620)gCt>gAt	p.A540D	TMTC1_ENST00000381224.2_Missense_Mutation_p.A494D|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.A564D|TMTC1_ENST00000551659.1_Missense_Mutation_p.A602D|TMTC1_ENST00000256062.5_Missense_Mutation_p.A432D	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	540						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A432D(1)|p.A432V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GAGCTGGAGAGCCCTCTGATA	0.498																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											227	189	202					12																	29709847		2203	4300	6503	SO:0001583	missense	83857				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1619C>A	12.37:g.29709847G>T	ENSP00000442046:p.Ala540Asp		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015135	0.93404	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.74632	-0.82;-0.82;-0.86;-0.82;-0.82	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.989	D	0.93097	0.6505	9	.	.	.	-13.9388	17.9347	0.89009	0.0:0.0:1.0:0.0	.	494;540;602	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	D	303;432;602;564;540;494	ENSP00000256062:A432D;ENSP00000448112:A602D;ENSP00000449043:A564D;ENSP00000442046:A540D;ENSP00000370622:A494D	.	A	-	2	0	TMTC1	29601114	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.945000	0.92985	2.576000	0.86940	0.655000	0.94253	GCT		0.498	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		T	29709847	G	T	29709847	3	4	563	1	0	0	0	0	1	0	0	0	16265	971	34	4	1065	4	TMTC1	12	29709847	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10		29709847	104142048	43	30456											
C12orf40	283461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	40076779	40076779	+	Silent	SNP	A	A	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr12:40076779A>T	ENST00000324616.5	+	8	1207	c.1053A>T	c.(1051-1053)acA>acT	p.T351T	C12orf40_ENST00000398716.1_Silent_p.T274T|C12orf40_ENST00000405531.3_Silent_p.T351T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	351								p.T351T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACATTTTTACAGTTCCAGAGT	0.323																																																1	Substitution - coding silent(1)	kidney(1)											59	55	56					12																	40076779		1843	4089	5932	SO:0001819	synonymous_variant	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1053A>T	12.37:g.40076779A>T			B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	ENST00000324616.5	37	CCDS41770.1																																																																																				0.323	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		T	40076779	A	T	40076779	2	4	563	1	0	0	0	0	0	0	0	1	1688	175	7	5		5	C12orf40	12	40076779	Silent	SNP	A	TCGA-CW-5588-01A-01D-1534-10	10366932	40076779	93775116	44	30457											
TMTC2	160335	broad.mit.edu;hgsc.bcm.edu	37	12	83290207	83290207	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr12:83290207G>A	ENST00000321196.3	+	3	1972	c.1265G>A	c.(1264-1266)cGa>cAa	p.R422Q	TMTC2_ENST00000549919.1_Missense_Mutation_p.R416Q|TMTC2_ENST00000548305.1_Missense_Mutation_p.R422Q	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	422					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.R422Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATTGCAGAGCGAGTATTATAT	0.413																																																1	Substitution - Missense(1)	kidney(1)											147	144	145					12																	83290207		2203	4300	6503	SO:0001583	missense	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1265G>A	12.37:g.83290207G>A	ENSP00000322300:p.Arg422Gln		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044058	0.93685	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.69306	-0.39;-0.39;-0.39	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.86230	0.5883	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.87972	0.2737	10	0.87932	D	0	-8.4529	20.1996	0.98256	0.0:0.0:1.0:0.0	.	422;177;422	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	Q	422;422;416;177	ENSP00000322300:R422Q;ENSP00000448292:R422Q;ENSP00000447609:R416Q	ENSP00000322300:R422Q	R	+	2	0	TMTC2	81814338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.776000	0.95493	0.650000	0.86243	CGA		0.413	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		A	83290207	G	A	83290207	3	1	563	1	0	0	0	0	1	0	0	0	16266	1058	37	1	1275	1	TMTC2	12	83290207	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10	43213428	83290207	50561688	45	30458											
STAB2	55576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104062492	104062492	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr12:104062492C>A	ENST00000388887.2	+	20	2361	c.2157C>A	c.(2155-2157)tgC>tgA	p.C719*	RP11-341G23.3_ENST00000550175.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.C719*(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCCGGTACTGCAATGCCACTG	0.612																																																1	Substitution - Nonsense(1)	kidney(1)											54	39	44					12																	104062492		2080	4026	6106	SO:0001587	stop_gained	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2157C>A	12.37:g.104062492C>A	ENSP00000373539:p.Cys719*			Nonsense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	38	6.974915	0.97975	.	.	ENSG00000136011	ENST00000388887	.	.	.	5.25	-4.96	0.03038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5757	0.68246	0.0:0.6554:0.0:0.3446	.	.	.	.	X	719	.	ENSP00000373539:C719X	C	+	3	2	STAB2	102586622	0.969000	0.33509	0.046000	0.18839	0.585000	0.36419	-0.173000	0.09854	-1.014000	0.03379	-0.484000	0.04775	TGC		0.612	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			A	104062492	C	A	104062492	4	1	563	1	0	0	0	0	0	1	0	0	15243	718	25	4	2235	4	STAB2	12	104062492	Nonsense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10	20772285	104062492	29789403	46	30459											
ZMYM2	7750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	20657807	20657807	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr13:20657807A>G	ENST00000382874.2	+	25	4022	c.3832A>G	c.(3832-3834)Act>Gct	p.T1278A	ZMYM2_ENST00000382869.3_Missense_Mutation_p.T1278A|ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.T1278A	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.T1278A(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TAAAATTACTACTGGAAAAAG	0.303																																																2	Substitution - Missense(2)	kidney(2)											52	46	48					13																	20657807		1784	4066	5850	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3832A>G	13.37:g.20657807A>G	ENSP00000372327:p.Thr1278Ala		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	A	9.866	1.197616	0.22037	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.16743	2.32	5.26	4.05	0.47172	.	0.194288	0.44902	D	0.000416	T	0.04861	0.0131	N	0.02011	-0.69	0.80722	D	1	P	0.37061	0.58	B	0.34489	0.184	T	0.36040	-0.9764	10	0.08381	T	0.77	-10.8578	7.4082	0.27004	0.7833:0.1429:0.0738:0.0	.	1278	Q9UBW7	ZMYM2_HUMAN	A	1278;1278;1276;1276;656	ENSP00000372322:T1278A	ENSP00000372322:T1278A	T	+	1	0	ZMYM2	19555807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.706000	0.37878	0.918000	0.36919	0.477000	0.44152	ACT		0.303	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		G	20657807	A	G	20657807	3	3	563	1	0	0	0	0	1	0	0	0	17705	391	14	3	3918	3	ZMYM2	13	20657807	Missense_Mutation	SNP	A	TCGA-CW-5588-01A-01D-1534-10		20657807	94512071	47	30460											
MYO16	23026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	109535457	109535457	+	Silent	SNP	T	T	C			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr13:109535457T>C	ENST00000357550.2	+	12	1451	c.1410T>C	c.(1408-1410)ccT>ccC	p.P470P	MYO16_ENST00000251041.5_Silent_p.P470P|MYO16_ENST00000356711.2_Silent_p.P470P	NM_001198950.1	NP_001185879.1			myosin XVI									p.P470P(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTCGCTGCCTCCTCACCTCT	0.562																																																1	Substitution - coding silent(1)	kidney(1)											171	145	154					13																	109535457		2203	4300	6503	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1410T>C	13.37:g.109535457T>C				Silent	SNP	ENST00000357550.2	37	CCDS32008.1																																																																																				0.562	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		C	109535457	T	C	109535457	2	2	563	1	0	0	0	0	0	0	0	1	10066	1538	54	3		3	MYO16	13	109535457	Silent	SNP	T	TCGA-CW-5588-01A-01D-1534-10	88877650	109535457	5634421	48	30461											
OR5AU1	390445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21624096	21624096	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr14:21624096C>T	ENST00000304418.3	-	1	126	c.89G>A	c.(88-90)aGc>aAc	p.S30N		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S30N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ACACCTGGGGCTCTGACTGGG	0.478																																																1	Substitution - Missense(1)	kidney(1)											141	135	137					14																	21624096		2203	4300	6503	SO:0001583	missense	390445			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.89G>A	14.37:g.21624096C>T	ENSP00000302057:p.Ser30Asn		B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696677	0.30142	.	.	ENSG00000169327	ENST00000304418	T	0.00949	5.51	3.38	1.53	0.23141	.	.	.	.	.	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.47947	-0.9077	9	0.59425	D	0.04	.	7.7332	0.28799	0.0:0.7803:0.0:0.2196	.	30	Q8NGC0	O5AU1_HUMAN	N	30	ENSP00000302057:S30N	ENSP00000302057:S30N	S	-	2	0	OR5AU1	20693936	0.000000	0.05858	0.001000	0.08648	0.271000	0.26615	0.026000	0.13599	0.420000	0.25954	0.491000	0.48974	AGC		0.478	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			T	21624096	C	T	21624096	3	4	563	1	0	0	0	0	1	0	0	0	11149	797	28	2	1002	2	OR5AU1	14	21624096	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10		21624096	85725444	49	30462											
DDHD1	80821	hgsc.bcm.edu	37	14	53558606	53558608	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr14:53558606_53558608delCTT	ENST00000323669.5	-	4	1183_1185	c.1184_1186delAAG	c.(1183-1188)gaagcc>gcc	p.E395del	DDHD1_ENST00000395606.1_In_Frame_Del_p.E402del|DDHD1_ENST00000357758.3_In_Frame_Del_p.E395del	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	395					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTAATGTGGCTTCTTCTACATA	0.355																																																0																																										SO:0001651	inframe_deletion	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1184_1186delAAG	14.37:g.53558609_53558611delCTT	ENSP00000327104:p.Glu395del		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Del	DEL	ENST00000323669.5	37	CCDS53895.1																																																																																				0.355	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			-	53558608	CTT	-	53558606	7	5	563	1	0	1	0	1	0	0	0	0	4328	797	28	0	1556	0	DDHD1	14	53558606	In_Frame_Del	DEL	CTT	TCGA-CW-5588-01A-01D-1534-10	31934510	53558606	53790934	50	30463											
C14orf39	317761	broad.mit.edu;hgsc.bcm.edu	37	14	60932762	60932762	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr14:60932762C>T	ENST00000321731.3	-	11	1066	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	303					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.E303K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GCAGAACTTTCTTCTTTTATA	0.294																																																1	Substitution - Missense(1)	kidney(1)											44	46	45					14																	60932762		2201	4295	6496	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.907G>A	14.37:g.60932762C>T	ENSP00000324920:p.Glu303Lys		Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682087	0.47991	.	.	ENSG00000179008	ENST00000321731	T	0.29142	1.58	5.68	3.87	0.44632	.	0.335788	0.25636	N	0.029302	T	0.27205	0.0667	L	0.53249	1.67	0.35988	D	0.836524	B	0.19073	0.033	B	0.19946	0.027	T	0.17048	-1.0382	10	0.30078	T	0.28	-3.4088	8.674	0.34167	0.0:0.8252:0.0:0.1748	.	303	Q8N1H7	S6OS1_HUMAN	K	303	ENSP00000324920:E303K	ENSP00000324920:E303K	E	-	1	0	C14orf39	60002515	0.997000	0.39634	0.976000	0.42696	0.579000	0.36224	1.484000	0.35508	0.753000	0.32945	0.650000	0.86243	GAA		0.294	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		T	60932762	C	T	60932762	3	4	563	1	0	0	0	0	1	0	0	0	1774	922	32	2	888	2	C14orf39	14	60932762	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10	7374156	60932762	46416778	51	30464											
ZFYVE26	23503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68249593	68249594	+	Missense_Mutation	DNP	AA	AA	TT			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr14:68249593_68249594AA>TT	ENST00000347230.4	-	21	4413_4414	c.4275_4276TT>AA	c.(4273-4278)gaTTgg>gaAAgg	p.1425_1426DW>ER	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.1425_1426DW>ER	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1425					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.W1426R(1)|p.D1425E(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCCGGGACCAATCTCTGGCCA	0.545																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4275_4276delinsTT	14.37:g.68249593_68249594delinsTT	ENSP00000251119:p.D1425_W1426delinsER		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1																																																																																				0.545	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		TT	68249594	AA	TT	68249593	3	4	563	1	0	0	0	0	1	0	0	0	17673	130	5	5	3431	5	ZFYVE26	14	68249593	Missense_Mutation	DNP	AA	TCGA-CW-5588-01A-01D-1534-10	7316831	68249593	39099947	52	30465											
TTBK2	146057	broad.mit.edu;hgsc.bcm.edu	37	15	43102877	43102877	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr15:43102877G>A	ENST00000267890.6	-	9	865	c.757C>T	c.(757-759)Cca>Tca	p.P253S	TTBK2_ENST00000567840.1_Missense_Mutation_p.P253S|TTBK2_ENST00000567274.1_Missense_Mutation_p.P218S	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P253S(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTGAATTCTGGAGGGAGATGT	0.393																																																1	Substitution - Missense(1)	kidney(1)											122	115	117					15																	43102877		1857	4094	5951	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.757C>T	15.37:g.43102877G>A	ENSP00000267890:p.Pro253Ser		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	4.329	0.060509	0.08339	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.20200	2.09	5.85	4.86	0.63082	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.193855	0.53938	D	0.000042	T	0.24044	0.0582	N	0.21282	0.65	0.37935	D	0.932122	B;B;B;B	0.27264	0.173;0.001;0.0;0.001	B;B;B;B	0.41917	0.37;0.012;0.004;0.02	T	0.18398	-1.0338	10	0.33141	T	0.24	.	17.6994	0.88290	0.0:0.0:0.869:0.131	.	233;184;253;253	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	S	253;183;233	ENSP00000267890:P253S	ENSP00000263802:P233S	P	-	1	0	TTBK2	40890169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.780000	0.47742	2.761000	0.94854	0.655000	0.94253	CCA		0.393	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		A	43102877	G	A	43102877	3	1	563	1	0	0	0	0	1	0	0	0	16682	1174	41	2	3005	2	TTBK2	15	43102877	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10		43102877	59428515	53	30466											
BLM	641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91292947	91292947	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr15:91292947C>T	ENST00000355112.3	+	3	567	c.449C>T	c.(448-450)aCc>aTc	p.T150I	BLM_ENST00000560509.1_Missense_Mutation_p.T150I	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	150					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.T150I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TCTTTAAGTACCATCAATGAT	0.378			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	1	Substitution - Missense(1)	kidney(1)											70	68	69					15																	91292947		2198	4298	6496	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.449C>T	15.37:g.91292947C>T	ENSP00000347232:p.Thr150Ile		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412641	0.25465	.	.	ENSG00000197299	ENST00000355112	T	0.44482	0.92	5.27	0.719	0.18208	.	0.961955	0.08560	N	0.927613	T	0.33904	0.0879	L	0.51422	1.61	0.09310	N	1	B;B	0.19331	0.02;0.035	B;B	0.19946	0.016;0.027	T	0.38265	-0.9669	10	0.56958	D	0.05	-8.2554	3.6324	0.08137	0.0:0.4847:0.19:0.3253	.	150;150	B2RAN0;P54132	.;BLM_HUMAN	I	150	ENSP00000347232:T150I	ENSP00000347232:T150I	T	+	2	0	BLM	89093951	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.017000	0.13399	0.598000	0.29829	0.650000	0.86243	ACC		0.378	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			T	91292947	C	T	91292947	3	4	563	1	0	0	0	0	1	0	0	0	1445	507	18	2	455	2	BLM	15	91292947	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10	48190070	91292947	11238445	54	30467											
TRIM16	10626	broad.mit.edu	37	17	15554772	15554772	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr17:15554772A>G	ENST00000578237.1	-	6	1007	c.152T>C	c.(151-153)cTt>cCt	p.L51P	TRIM16_ENST00000581224.1_Intron|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.L51P|RP11-640I15.1_ENST00000584540.1_RNA|TRIM16_ENST00000336708.7_Missense_Mutation_p.L51P|TRIM16_ENST00000416464.2_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	51					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)	p.L51P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CTCCCTGCCAAGCTTCTCCGA	0.627																																																1	Substitution - Missense(1)	kidney(1)											139	139	139					17																	15554772		2203	4300	6503	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.152T>C	17.37:g.15554772A>G	ENSP00000463188:p.Leu51Pro		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	a	8.498	0.863525	0.17250	.	.	ENSG00000221926	ENST00000336708	T	0.64618	-0.11	5.17	3.12	0.35913	.	0.717192	0.12568	N	0.457580	T	0.47637	0.1456	L	0.31207	0.915	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34850	-0.9812	10	0.39692	T	0.17	.	8.0201	0.30404	0.0925:0.1616:0.7459:0.0	.	51;65	O95361;Q59EB2	TRI16_HUMAN;.	P	51	ENSP00000338989:L51P	ENSP00000338989:L51P	L	-	2	0	TRIM16	15495497	0.016000	0.18221	0.000000	0.03702	0.004000	0.04260	1.813000	0.38962	0.528000	0.28580	-0.464000	0.05259	CTT		0.627	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		G	15554772	A	G	15554772	3	3	563	1	0	0	0	0	1	0	0	0	16496	72	3	3	1566	3	TRIM16	17	15554772	Missense_Mutation	SNP	A	TCGA-CW-5588-01A-01D-1534-10		15554772	65640438	55	30468											
YES1	7525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	743325	743325	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr18:743325A>C	ENST00000584307.1	-	7	985	c.815T>G	c.(814-816)aTc>aGc	p.I272S	YES1_ENST00000314574.4_Missense_Mutation_p.I272S|YES1_ENST00000577961.1_Missense_Mutation_p.I277S			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	272					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.I272S(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TTCTCGAGGGATTTCCCAAGC	0.418																																																1	Substitution - Missense(1)	kidney(1)											114	104	107					18																	743325		2203	4300	6503	SO:0001583	missense	7525			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.815T>G	18.37:g.743325A>C	ENSP00000462468:p.Ile272Ser		A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580369	0.86645	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.27402	1.67	5.69	5.69	0.88448	Protein kinase-like domain (1);SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	H	0.95043	3.615	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	T	0.77003	-0.2749	10	0.87932	D	0	.	15.9592	0.79914	1.0:0.0:0.0:0.0	.	272	P07947	YES_HUMAN	S	272	ENSP00000324740:I272S	ENSP00000324740:I272S	I	-	2	0	YES1	733325	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.215000	0.95146	2.175000	0.68902	0.533000	0.62120	ATC		0.418	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		C	743325	A	C	743325	3	2	563	1	0	0	0	0	1	0	0	0	17479	333	12	5	840	5	YES1	18	743325	Missense_Mutation	SNP	A	TCGA-CW-5588-01A-01D-1534-10		743325	77333923	56	30469											
CD97	976	broad.mit.edu;hgsc.bcm.edu	37	19	14507236	14507236	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr19:14507236G>C	ENST00000242786.5	+	5	509	c.429G>C	c.(427-429)caG>caC	p.Q143H	CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.Q143H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	143	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.Q143H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ATACCTGCCAGTGCCTGCCTG	0.582																																																1	Substitution - Missense(1)	kidney(1)											122	101	108					19																	14507236		2203	4300	6503	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.429G>C	19.37:g.14507236G>C	ENSP00000242786:p.Gln143His		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	g	12.15	1.851708	0.32699	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000393059	D;D	0.92249	-3.0;-3.0	4.39	-2.35	0.06684	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.83036	0.5167	N	0.13299	0.325	0.09310	N	1	P;B	0.51791	0.948;0.04	P;B	0.47162	0.54;0.026	T	0.75252	-0.3383	9	0.33141	T	0.24	.	3.9848	0.09511	0.3519:0.3527:0.2954:0.0	.	143;143	P48960-3;P48960	.;CD97_HUMAN	H	143;143;142	ENSP00000242786:Q143H;ENSP00000349918:Q143H	ENSP00000242786:Q143H	Q	+	3	2	CD97	14368236	0.049000	0.20398	0.000000	0.03702	0.012000	0.07955	0.092000	0.15066	-0.161000	0.10983	-0.313000	0.08912	CAG		0.582	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		C	14507236	G	C	14507236	3	2	563	1	0	0	0	0	1	0	0	0	3051	1020	36	4	447	4	CD97	19	14507236	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10		14507236	44621747	57	30470											
MED26	9441	broad.mit.edu;ucsc.edu	37	19	16687395	16687395	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr19:16687395T>G	ENST00000263390.3	-	3	1508	c.1246A>C	c.(1246-1248)Aag>Cag	p.K416Q	CTD-3222D19.2_ENST00000409035.1_Intron|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	416					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)	p.K416Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CGGACAGGCTTGACGCCCGCC	0.572																																																1	Substitution - Missense(1)	kidney(1)											68	61	63					19																	16687395		2203	4300	6503	SO:0001583	missense	9441			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1246A>C	19.37:g.16687395T>G	ENSP00000263390:p.Lys416Gln		A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.211245	0.58343	.	.	ENSG00000105085	ENST00000263390	T	0.44482	0.92	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	M	0.68952	2.095	0.54753	D	0.999981	P	0.52577	0.954	P	0.54856	0.762	T	0.55976	-0.8055	10	0.41790	T	0.15	-21.8299	14.2736	0.66166	0.0:0.0:0.0:1.0	.	416	O95402	MED26_HUMAN	Q	416	ENSP00000263390:K416Q	ENSP00000263390:K416Q	K	-	1	0	MED26	16548395	1.000000	0.71417	0.899000	0.35326	0.934000	0.57294	5.764000	0.68826	1.980000	0.57719	0.472000	0.43445	AAG		0.572	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		G	16687395	T	G	16687395	3	3	563	1	0	0	0	0	1	0	0	0	9446	1821	63	5	560	5	MED26	19	16687395	Missense_Mutation	SNP	T	TCGA-CW-5588-01A-01D-1534-10	2180159	16687395	42441588	58	30471											
SFRS16	11129	hgsc.bcm.edu	37	19	45571279	45571280	+	Frame_Shift_Ins	INS	-	-	C	rs574020137		TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr19:45571279_45571280insC	ENST00000221455.3	+	15	1772_1773	c.1674_1675insC	c.(1675-1677)cctfs	p.P559fs	CLASRP_ENST00000391953.4_Frame_Shift_Ins_p.P497fs|CLASRP_ENST00000544944.2_Frame_Shift_Ins_p.P559fs	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	559	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCAGGACCGAACCTGCCGCTGG	0.619																																																0																																										SO:0001589	frameshift_variant	11129			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1676dupC	19.37:g.45571281_45571281dupC	ENSP00000221455:p.Pro559fs		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Ins	INS	ENST00000221455.3	37	CCDS12652.2																																																																																				0.619	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		C	45571280	-	C	45571279	7	5	563	1	0	1	1	0	0	0	0	0	14178	40	2	0	1728	0	SFRS16	19	45571279	Frame_Shift_Ins	INS	-	TCGA-CW-5588-01A-01D-1534-10	28883884	45571279	13557704	59	30472											
ZNF665	79788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53668352	53668352	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr19:53668352C>T	ENST00000600412.1	-	2	1311	c.1196G>A	c.(1195-1197)gGt>gAt	p.G399D	ZNF665_ENST00000396424.3_Missense_Mutation_p.G464D|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G464D(1)|p.G399D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAAGACCTTACCGCAGTCATT	0.433																																																2	Substitution - Missense(2)	kidney(2)											81	84	83					19																	53668352		2203	4300	6503	SO:0001583	missense	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1196G>A	19.37:g.53668352C>T	ENSP00000469154:p.Gly399Asp		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	C	12.80	2.047914	0.36085	.	.	ENSG00000197497	ENST00000396424	T	0.07021	3.23	2.55	-1.27	0.09347	.	.	.	.	.	T	0.11623	0.0283	N	0.17872	0.535	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24119	-1.0169	9	0.48119	T	0.1	.	4.8271	0.13421	0.0:0.5964:0.1765:0.227	.	464	Q9H7R5-2	.	D	464	ENSP00000379702:G464D	ENSP00000379702:G464D	G	-	2	0	ZNF665	58360164	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.081000	0.14823	-0.341000	0.08376	-0.386000	0.06593	GGT		0.433	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		T	53668352	C	T	53668352	3	4	563	1	0	0	0	0	1	0	0	0	18078	507	18	2	649	2	ZNF665	19	53668352	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10	8097073	53668352	5460631	60	30473											
NOP56	10528	broad.mit.edu;hgsc.bcm.edu	37	20	2637491	2637491	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr20:2637491G>A	ENST00000329276.5	+	10	1747	c.1231G>A	c.(1231-1233)Gga>Aga	p.G411R	IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORA51_ENST00000606420.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	411					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.G411R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CTATGAGACTGGAGAGATACC	0.512																																																1	Substitution - Missense(1)	kidney(1)											165	137	147					20																	2637491		2203	4300	6503	SO:0001583	missense	10528			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1231G>A	20.37:g.2637491G>A	ENSP00000370589:p.Gly411Arg		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512494	0.85389	.	.	ENSG00000101361	ENST00000329276;ENST00000381169	T	0.47177	0.85	5.75	5.75	0.90469	.	0.099000	0.64402	D	0.000002	T	0.80105	0.4562	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.86390	0.1735	10	0.87932	D	0	-8.5813	17.4537	0.87600	0.0:0.0:1.0:0.0	.	158;411	E9PDI8;O00567	.;NOP56_HUMAN	R	411;158	ENSP00000370589:G411R	ENSP00000370589:G411R	G	+	1	0	NOP56	2585491	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.477000	0.97925	2.716000	0.92895	0.655000	0.94253	GGA		0.512	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		A	2637491	G	A	2637491	3	1	563	1	0	0	0	0	1	0	0	0	10541	1349	47	2	1269	2	NOP56	20	2637491	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10		2637491	60388029	61	30474											
DDX17	10521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38889717	38889717	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chr22:38889717T>C	ENST00000396821.3	-	10	1484	c.1385A>G	c.(1384-1386)aAt>aGt	p.N462S	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.N383S	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	462	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.N462S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					AAACTTACCATTAAGTACCCA	0.373																																					Ovarian(55;1085 1454 6392 21425)											1	Substitution - Missense(1)	kidney(1)											67	68	68					22																	38889717		2203	4300	6503	SO:0001583	missense	10521			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1385A>G	22.37:g.38889717T>C	ENSP00000380033:p.Asn462Ser		B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.146975	0.37923	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.74737	-0.87;-0.87;-0.87	5.8	5.8	0.92144	Helicase, C-terminal (3);	0.234146	0.50627	D	0.000111	T	0.55353	0.1915	N	0.12663	0.25	0.80722	D	1	B;B;B	0.22211	0.045;0.066;0.054	B;B;B	0.25405	0.06;0.058;0.035	T	0.53099	-0.8486	10	0.18276	T	0.48	-21.4403	10.4884	0.44735	0.0:0.0719:0.0:0.9281	.	383;464;462	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	S	462;383;462;464	ENSP00000380033:N462S;ENSP00000371046:N383S;ENSP00000385536:N462S	ENSP00000371046:N383S	N	-	2	0	DDX17	37219663	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.501000	0.60393	2.227000	0.72691	0.460000	0.39030	AAT		0.373	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		C	38889717	T	C	38889717	3	2	563	1	0	0	0	0	1	0	0	0	4346	1493	52	3	826	3	DDX17	22	38889717	Missense_Mutation	SNP	T	TCGA-CW-5588-01A-01D-1534-10		38889717	12414849	62	30475											
ARHGAP36	158763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	130218268	130218268	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chrX:130218268C>T	ENST00000276211.5	+	5	980	c.635C>T	c.(634-636)tCc>tTc	p.S212F	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S76F|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S200F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	212					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S212F(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCAAAAATTTCCTTTCCAATT	0.498																																																1	Substitution - Missense(1)	kidney(1)											42	41	42					X																	130218268		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.635C>T	X.37:g.130218268C>T	ENSP00000276211:p.Ser212Phe		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812314	0.50527	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T	0.10960	2.82;2.82;2.83;2.83	4.99	4.99	0.66335	.	0.000000	0.47455	D	0.000238	T	0.14614	0.0353	N	0.08118	0	0.48830	D	0.999712	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.982;0.96	T	0.17961	-1.0352	10	0.52906	T	0.07	.	12.5345	0.56135	0.0:1.0:0.0:0.0	.	181;200;212	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	F	212;200;164;181;76	ENSP00000276211:S212F;ENSP00000359960:S200F;ENSP00000408515:S181F;ENSP00000359959:S76F	ENSP00000276211:S212F	S	+	2	0	ARHGAP36	130045949	0.995000	0.38212	0.599000	0.28851	0.102000	0.19082	4.477000	0.60223	2.451000	0.82905	0.529000	0.55759	TCC		0.498	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		T	130218268	C	T	130218268	3	4	563	1	0	0	0	0	1	0	0	0	883	855	30	2	649	2	ARHGAP36	23	130218268	Missense_Mutation	SNP	C	TCGA-CW-5588-01A-01D-1534-10		130218268	25052292	63	30476											
MAGEC1	9947	hgsc.bcm.edu;ucsc.edu	37	X	140993716	140993716	+	Missense_Mutation	SNP	G	G	C	rs78700965	byFrequency	TCGA-CW-5588-01A-01D-1534-10	TCGA-CW-5588-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	574bd631-8862-468f-90e9-065aad6d1419	ab8b8c6d-9b42-4c32-b691-9cfd29859bf8	g.chrX:140993716G>C	ENST00000285879.4	+	4	812	c.526G>C	c.(526-528)Gtg>Ctg	p.V176L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	176										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCACTTTAGTGAGTATTTT	0.507										HNSCC(15;0.026)			-|||	494	0.130861	0.1256	0.1037	3775	,	,		13963	0.0655		0.0895	False		,,,				2504	0.1022															0													78	88	85					X																	140993716		2203	4297	6500	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.526G>C	X.37:g.140993716G>C	ENSP00000285879:p.Val176Leu		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	0.790	-0.759232	0.03019	.	.	ENSG00000155495	ENST00000285879	T	0.02737	4.18	.	.	.	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.26371	N	0.976892	B	0.09022	0.002	B	0.01281	0.0	T	0.44726	-0.9309	8	0.02654	T	1	.	2.1954	0.03909	0.3318:0.3336:0.3346:0.0	.	176	O60732	MAGC1_HUMAN	L	176	ENSP00000285879:V176L	ENSP00000285879:V176L	V	+	1	0	MAGEC1	140821382	0.000000	0.05858	0.014000	0.15608	0.014000	0.08584	-4.994000	0.00162	-2.175000	0.00771	-2.144000	0.00337	GTG		0.507	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		C	140993716	G	C	140993716	3	2	563	1	0	0	0	0	1	0	0	0	9182	1029	36	4	532	4	MAGEC1	23	140993716	Missense_Mutation	SNP	G	TCGA-CW-5588-01A-01D-1534-10	10775448	140993716	14276844	64	30477											
PRAMEF12	390999	hgsc.bcm.edu	37	1	12837358	12837358	+	Silent	SNP	G	G	A	rs201553868	byFrequency	TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr1:12837358G>A	ENST00000357726.4	+	3	1095	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	356					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)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACTTAGAGGACTGTGGGA	0.597																																																0													96	96	96					1																	12837358		2203	4300	6503	SO:0001819	synonymous_variant	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1068G>A	1.37:g.12837358G>A				Silent	SNP	ENST00000357726.4	37	CCDS41254.1																																																																																				0.597	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		A	12837358	G	A	12837358	2	1	564	1	0	0	0	0	0	0	0	1	12433	991	35	2		2	PRAMEF12	1	12837358	Silent	SNP	G	TCGA-CW-5589-01A-01D-1534-10		12837358	236413263	1	30478											
KAZ	23254	broad.mit.edu;hgsc.bcm.edu	37	1	15370643	15370643	+	Silent	SNP	C	C	T			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr1:15370643C>T	ENST00000376030.2	+	4	1008	c.714C>T	c.(712-714)gcC>gcT	p.A238A	KAZN_ENST00000361144.5_Silent_p.A232A|KAZN_ENST00000400798.2_Silent_p.A144A|KAZN_ENST00000503743.1_Silent_p.A238A|KAZN_ENST00000400797.3_Silent_p.A144A|KAZN_ENST00000422387.2_Silent_p.A238A	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	238	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.A232A(1)|p.A238A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						AGCTGGAGGCCGAGCTGGCCA	0.672																																																2	Substitution - coding silent(2)	kidney(2)											68	66	67					1																	15370643		2203	4300	6503	SO:0001819	synonymous_variant	0			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.714C>T	1.37:g.15370643C>T			B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	CCDS152.2																																																																																				0.672	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		T	15370643	C	T	15370643	2	4	564	1	0	0	0	0	0	0	0	1	7990	639	23	1		1	KAZ	1	15370643	Silent	SNP	C	TCGA-CW-5589-01A-01D-1534-10	2533285	15370643	233879978	2	30479											
CDC14A	8556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100961574	100961574	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr1:100961574G>C	ENST00000336454.3	+	13	1622	c.1267G>C	c.(1267-1269)Gga>Cga	p.G423R	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.G365R|CDC14A_ENST00000361544.6_Missense_Mutation_p.G423R|CDC14A_ENST00000544534.1_Missense_Mutation_p.G423R	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	423					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G423R(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TGATACAAAAGGACATCCAAG	0.433																																																1	Substitution - Missense(1)	kidney(1)											163	148	153					1																	100961574		2203	4300	6503	SO:0001583	missense	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1267G>C	1.37:g.100961574G>C	ENSP00000336739:p.Gly423Arg		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	G	3.044	-0.196823	0.06259	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.09538	2.97;2.97;3.16;2.98	5.05	1.97	0.26223	.	0.611281	0.16676	N	0.204155	T	0.01835	0.0058	L	0.28274	0.84	0.32717	N	0.510828	B;B;B;B	0.27229	0.065;0.172;0.101;0.162	B;B;B;B	0.29077	0.098;0.05;0.052;0.098	T	0.43605	-0.9381	10	0.16420	T	0.52	-5.6796	2.0978	0.03672	0.1855:0.3005:0.3872:0.1268	.	365;423;423;423	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	R	365;423;423;423	ENSP00000442640:G365R;ENSP00000354916:G423R;ENSP00000336739:G423R;ENSP00000442543:G423R	ENSP00000336739:G423R	G	+	1	0	CDC14A	100734162	0.997000	0.39634	0.904000	0.35570	0.019000	0.09904	0.790000	0.26900	1.239000	0.43787	0.655000	0.94253	GGA		0.433	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		C	100961574	G	C	100961574	3	2	564	1	0	0	0	0	1	0	0	0	3058	1001	35	4	1332	4	CDC14A	1	100961574	Missense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10	85590931	100961574	148289047	3	30480											
NBPF9	400818	broad.mit.edu	37	1	144813824	144813824	+	Silent	SNP	G	G	C	rs77446849	byFrequency	TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr1:144813824G>C	ENST00000440491.2	+	2	297	c.297G>C	c.(295-297)ctG>ctC	p.L99L	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Silent_p.L99L	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	357						cytoplasm (GO:0005737)		p.L99L(1)		NS(2)|prostate(1)	3						CAGAGCAGCTGAAGCAAGCTG	0.522													.|||	1679	0.335264	0.2269	0.3429	5008	,	,		21823	0.495		0.2763	False		,,,				2504	0.3722															1	Substitution - coding silent(1)	kidney(1)											2	2	2					1																	144813824		370	888	1258	SO:0001819	synonymous_variant	400818				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.297G>C	1.37:g.144813824G>C				Silent	SNP	ENST00000440491.2	37		.	.	.	.	.	.	.	.	.	.	.	0.186	-1.058093	0.01950	.	.	ENSG00000168614	ENST00000375552	.	.	.	0.562	-1.12	0.09808	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	S	98	.	.	X	+	2	2	NBPF9	143525181	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.141000	0.03207	-3.442000	0.00162	-3.270000	0.00048	TGA		0.522	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		C	144813824	G	C	144813824	2	2	564	1	0	0	0	0	0	0	0	1	10201	1277	45	4		4	NBPF9	1	144813824	Silent	SNP	G	TCGA-CW-5589-01A-01D-1534-10	43852250	144813824	104436797	4	30481											
NBPF9	400818	broad.mit.edu	37	1	144828610	144828610	+	Silent	SNP	T	T	G	rs12026633		TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr1:144828610T>G	ENST00000281815.8	+	13	1196	c.450T>G	c.(448-450)tcT>tcG	p.S150S	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_Silent_p.S552S			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	810						cytoplasm (GO:0005737)		p.S552S(1)		NS(2)|prostate(1)	3						GATGTTATTCTACTCCGTCAA	0.468																																																1	Substitution - coding silent(1)	kidney(1)											100	91	94					1																	144828610		692	1591	2283	SO:0001819	synonymous_variant	400818				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.450T>G	1.37:g.144828610T>G				Silent	SNP	ENST00000281815.8	37		.	.	.	.	.	.	.	.	.	.	.	2.102	-0.405934	0.04832	.	.	ENSG00000168614	ENST00000375552	.	.	.	0.618	0.618	0.17624	.	.	.	.	.	T	0.09730	0.0239	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35624	-0.9781	3	.	.	.	.	.	.	.	rs12026633	.	.	.	R	626	.	.	L	+	2	0	NBPF9	143539967	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	-0.254000	0.08781	-0.171000	0.10797	-1.044000	0.02363	CTA		0.468	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		G	144828610	T	G	144828610	2	3	564	1	0	0	0	0	0	0	0	1	10201	1509	53	5		5	NBPF9	1	144828610	Silent	SNP	T	TCGA-CW-5589-01A-01D-1534-10	14786	144828610	104422011	5	30482											
SEMA4A	64218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156146590	156146590	+	Silent	SNP	A	A	G			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr1:156146590A>G	ENST00000368285.3	+	15	2355	c.2088A>G	c.(2086-2088)tcA>tcG	p.S696S	SEMA4A_ENST00000368286.2_Silent_p.S564S|SEMA4A_ENST00000368282.1_Silent_p.S696S|SEMA4A_ENST00000355014.2_Silent_p.S696S|SEMA4A_ENST00000368284.1_Silent_p.S564S	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	696					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S696S(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TAGTGCTTTCAGGAGCCCTCA	0.642																																																1	Substitution - coding silent(1)	kidney(1)											100	87	92					1																	156146590		2203	4300	6503	SO:0001819	synonymous_variant	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.2088A>G	1.37:g.156146590A>G			B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	CCDS1132.1																																																																																				0.642	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		G	156146590	A	G	156146590	2	3	564	1	0	0	0	0	0	0	0	1	14037	175	7	3		3	SEMA4A	1	156146590	Silent	SNP	A	TCGA-CW-5589-01A-01D-1534-10	11317980	156146590	93104031	6	30483											
F5	2153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169529926	169529926	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr1:169529926T>A	ENST00000367797.3	-	4	653	c.452A>T	c.(451-453)gAa>gTa	p.E151V	F5_ENST00000546081.1_Missense_Mutation_p.E14V|F5_ENST00000367796.3_Missense_Mutation_p.E151V	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	151	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.E151V(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GATACTCCATTCATAGGTGTA	0.507																																																1	Substitution - Missense(1)	kidney(1)											200	169	180					1																	169529926		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.452A>T	1.37:g.169529926T>A	ENSP00000356771:p.Glu151Val		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	5.807	0.333197	0.11013	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99032	-5.35;-5.35;-5.35	5.39	0.163	0.14986	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.996046	0.08151	N	0.990127	D	0.90293	0.6964	N	0.21545	0.675	0.28620	N	0.908239	B	0.14438	0.01	B	0.17433	0.018	T	0.82577	-0.0388	9	0.02654	T	1	-10.0363	5.797	0.18392	0.4232:0.0:0.3301:0.2467	.	151	P12259	FA5_HUMAN	V	151;151;14	ENSP00000356771:E151V;ENSP00000356770:E151V;ENSP00000439664:E14V	ENSP00000356770:E151V	E	-	2	0	F5	167796550	0.000000	0.05858	0.667000	0.29798	0.741000	0.42261	-0.030000	0.12308	0.300000	0.22699	0.477000	0.44152	GAA		0.507	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		A	169529926	T	A	169529926	3	1	564	1	0	0	0	0	1	0	0	0	5350	1783	62	5	6310	5	F5	1	169529926	Missense_Mutation	SNP	T	TCGA-CW-5589-01A-01D-1534-10	13383336	169529926	79720695	7	30484											
ALK	238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29462601	29462601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr2:29462601delT	ENST00000389048.3	-	13	3206	c.2300delA	c.(2299-2301)aagfs	p.K767fs	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	767					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CATGTCATCCTTCTCCAGGTT	0.612			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													109	90	96					2																	29462601		2203	4300	6503	SO:0001589	frameshift_variant	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2300delA	2.37:g.29462601delT	ENSP00000373700:p.Lys767fs		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Frame_Shift_Del	DEL	ENST00000389048.3	37	CCDS33172.1																																																																																				0.612	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		-	29462601	T	-	29462601	7	5	564	1	0	1	0	1	0	0	0	0	525	1609	56	0	2630	0	ALK	2	29462601	Frame_Shift_Del	DEL	T	TCGA-CW-5589-01A-01D-1534-10		29462601	213736772	8	30485											
APLF	200558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	68740264	68740264	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr2:68740264C>A	ENST00000303795.4	+	4	565	c.394C>A	c.(394-396)Ccc>Acc	p.P132T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	132					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.P132T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						ACCAAAATCCCCCGTGATTAA	0.368																																																1	Substitution - Missense(1)	kidney(1)											66	69	68					2																	68740264		2203	4299	6502	SO:0001583	missense	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.394C>A	2.37:g.68740264C>A	ENSP00000307004:p.Pro132Thr		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	c	12.81	2.048999	0.36181	.	.	ENSG00000169621	ENST00000303795	T	0.24151	1.87	5.82	4.88	0.63580	.	0.739562	0.13506	N	0.382833	T	0.27313	0.0670	L	0.59436	1.845	0.09310	N	1	P;P	0.47302	0.893;0.666	P;B	0.47981	0.563;0.252	T	0.09773	-1.0659	10	0.10902	T	0.67	.	5.212	0.15322	0.0:0.8069:0.0:0.1931	.	132;132	F8WET0;Q8IW19	.;APLF_HUMAN	T	132	ENSP00000307004:P132T	ENSP00000307004:P132T	P	+	1	0	APLF	68593768	0.001000	0.12720	0.005000	0.12908	0.900000	0.52787	0.760000	0.26475	1.295000	0.44724	0.508000	0.49915	CCC		0.368	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		A	68740264	C	A	68740264	3	1	564	1	0	0	0	0	1	0	0	0	776	623	22	4	408	4	APLF	2	68740264	Missense_Mutation	SNP	C	TCGA-CW-5589-01A-01D-1534-10	39277663	68740264	174459109	9	30486											
RANBP2	5903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109379866	109379866	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr2:109379866G>C	ENST00000283195.6	+	20	2997	c.2871G>C	c.(2869-2871)agG>agC	p.R957S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	957					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R957S(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TATCGCCCAGGGGTGATGATT	0.458																																																2	Substitution - Missense(2)	kidney(2)											109	106	107					2																	109379866		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2871G>C	2.37:g.109379866G>C	ENSP00000283195:p.Arg957Ser		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732624	0.30684	.	.	ENSG00000153201	ENST00000283195	T	0.23552	1.9	5.19	4.26	0.50523	.	.	.	.	.	T	0.15739	0.0379	L	0.27053	0.805	0.25346	N	0.988902	B	0.31581	0.329	B	0.25987	0.065	T	0.06789	-1.0807	9	0.30078	T	0.28	-18.3764	7.7707	0.29006	0.0846:0.0:0.6423:0.2731	.	957	P49792	RBP2_HUMAN	S	957	ENSP00000283195:R957S	ENSP00000283195:R957S	R	+	3	2	RANBP2	108746298	0.996000	0.38824	1.000000	0.80357	0.954000	0.61252	0.381000	0.20619	2.570000	0.86706	0.563000	0.77884	AGG		0.458	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		C	109379866	G	C	109379866	3	2	564	1	0	0	0	0	1	0	0	0	13034	1223	43	4	2949	4	RANBP2	2	109379866	Missense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10	40639602	109379866	133819507	10	30487											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu	37	3	52663052	52663052	+	Splice_Site	SNP	C	C	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr3:52663052C>A	ENST00000296302.7	-	12	1303		c.e12-1		PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGTTTTGTTCTGTGAAAGAC	0.318			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Unknown(3)	kidney(3)											51	48	49					3																	52663052		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1302-1G>T	3.37:g.52663052C>A			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	18.22	3.575705	0.65878	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1293	0.93399	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52638092	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.487000	0.81328	2.532000	0.85374	0.467000	0.42956	.		0.318	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	A	52663052	C	A	52663052	5	1	564	1	0	0	0	0	0	0	1	0	11493	927	32	4	3675	4	PBRM1	3	52663052	Splice_Site	SNP	C	TCGA-CW-5589-01A-01D-1534-10		52663052	145359378	11	30488											
STAG1	10274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	136062787	136062787	+	Silent	SNP	G	G	T			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr3:136062787G>T	ENST00000383202.2	-	30	3589	c.3333C>A	c.(3331-3333)ccC>ccA	p.P1111P	STAG1_ENST00000434713.2_Silent_p.P851P|STAG1_ENST00000236698.5_Silent_p.P1111P|STAG1_ENST00000536929.1_Silent_p.P695P	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1111					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.P1111P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTGCTGGCAGGGGGCCAGGAG	0.507																																																1	Substitution - coding silent(1)	kidney(1)											133	115	121					3																	136062787		2203	4300	6503	SO:0001819	synonymous_variant	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3333C>A	3.37:g.136062787G>T			O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	CCDS3090.1																																																																																				0.507	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		T	136062787	G	T	136062787	2	4	564	1	0	0	0	0	0	0	0	1	15247	1219	43	4		4	STAG1	3	136062787	Silent	SNP	G	TCGA-CW-5589-01A-01D-1534-10	83399735	136062787	61959643	12	30489											
ATR	545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142281209	142281209	+	Silent	SNP	A	A	T			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr3:142281209A>T	ENST00000350721.4	-	4	1156	c.1035T>A	c.(1033-1035)gcT>gcA	p.A345A	ATR_ENST00000383101.3_Silent_p.A345A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	345					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A345A(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATGGCACAAAGCTGCTTTTA	0.388								Other conserved DNA damage response genes																																								1	Substitution - coding silent(1)	kidney(1)											72	72	72					3																	142281209		2203	4300	6503	SO:0001819	synonymous_variant	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1035T>A	3.37:g.142281209A>T			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	CCDS3124.1																																																																																				0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142281209	A	T	142281209	2	4	564	1	0	0	0	0	0	0	0	1	1204	59	3	5		5	ATR	3	142281209	Silent	SNP	A	TCGA-CW-5589-01A-01D-1534-10	6218422	142281209	55741221	13	30490											
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37020560	37020560	+	Splice_Site	SNP	G	G	T			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr5:37020560G>T	ENST00000282516.8	+	26	5509		c.e26-1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.?(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCTTTCCAGTTTTCTCGTA	0.328																																																2	Unknown(2)	kidney(2)											66	61	63					5																	37020560		2203	4297	6500	SO:0001630	splice_region_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5011-1G>T	5.37:g.37020560G>T			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589670	0.86851	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5885	0.95498	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37056317	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.476000	0.97823	2.647000	0.89833	0.585000	0.79938	.		0.328	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron	T	37020560	G	T	37020560	5	4	564	1	0	0	0	0	0	0	1	0	10430	1043	36	4	5108	4	NIPBL	5	37020560	Splice_Site	SNP	G	TCGA-CW-5589-01A-01D-1534-10		37020560	143894700	14	30491											
BDP1	55814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	70835434	70835434	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr5:70835434G>A	ENST00000358731.4	+	28	6243	c.5980G>A	c.(5980-5982)Gat>Aat	p.D1994N	BDP1_ENST00000380675.2_Missense_Mutation_p.D131N	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1994					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D1994N(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TACAATGGGAGATCTAGTATT	0.343																																																1	Substitution - Missense(1)	kidney(1)											83	80	81					5																	70835434		1864	4105	5969	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5980G>A	5.37:g.70835434G>A	ENSP00000351575:p.Asp1994Asn		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603123	0.66445	.	.	ENSG00000145734	ENST00000358731;ENST00000380675;ENST00000545546	T;T	0.20598	2.06;2.06	5.29	4.39	0.52855	.	0.215408	0.32918	N	0.005489	T	0.32585	0.0834	M	0.62723	1.935	0.09310	N	0.999998	D;P	0.67145	0.996;0.877	P;B	0.52957	0.714;0.419	T	0.12993	-1.0526	10	0.62326	D	0.03	.	12.0767	0.53647	0.0:0.1718:0.8281:0.0	.	1994;1994	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	N	1994;131;131	ENSP00000351575:D1994N;ENSP00000370050:D131N	ENSP00000351575:D1994N	D	+	1	0	BDP1	70871190	1.000000	0.71417	0.857000	0.33713	0.994000	0.84299	2.517000	0.45529	2.481000	0.83766	0.655000	0.94253	GAT		0.343	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		A	70835434	G	A	70835434	3	1	564	1	0	0	0	0	1	0	0	0	1395	942	33	2	6090	2	BDP1	5	70835434	Missense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10	33814874	70835434	110079826	15	30492											
CMYA5	202333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	79031276	79031276	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr5:79031276G>C	ENST00000446378.2	+	2	6719	c.6688G>C	c.(6688-6690)Gct>Cct	p.A2230P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2230					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.A2230P(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTTAATGTAGCTGAGAAACC	0.393																																																2	Substitution - Missense(2)	kidney(2)											121	119	120					5																	79031276		1851	4094	5945	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6688G>C	5.37:g.79031276G>C	ENSP00000394770:p.Ala2230Pro		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	5.682	0.310360	0.10733	.	.	ENSG00000164309	ENST00000446378	T	0.20069	2.1	5.9	-0.898	0.10550	.	0.794431	0.11313	N	0.576924	T	0.23330	0.0564	L	0.38175	1.15	0.09310	N	1	D	0.54397	0.966	P	0.50440	0.641	T	0.26292	-1.0107	10	0.66056	D	0.02	.	11.4446	0.50116	0.2772:0.0:0.7228:0.0	.	2230	Q8N3K9	CMYA5_HUMAN	P	2230	ENSP00000394770:A2230P	ENSP00000394770:A2230P	A	+	1	0	CMYA5	79067032	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.101000	0.10973	-0.110000	0.12022	-0.355000	0.07637	GCT		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		C	79031276	G	C	79031276	3	2	564	1	0	0	0	0	1	0	0	0	3592	971	34	4	6694	4	CMYA5	5	79031276	Missense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10	8195842	79031276	101883984	16	30493											
DPCR1	135656	hgsc.bcm.edu	37	6	30918748	30918748	+	Missense_Mutation	SNP	A	A	C	rs538824498	byFrequency	TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr6:30918748A>C	ENST00000462446.1	+	2	2535	c.2507A>C	c.(2506-2508)cAa>cCa	p.Q836P	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	280						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAGACCACACAATTCCCAGCA	0.478													-|||	25	0.00499201	0.0129	0.0029	5008	,	,		24278	0.001		0.0	False		,,,				2504	0.0051															0																																										SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2507A>C	6.37:g.30918748A>C	ENSP00000417182:p.Gln836Pro		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	-	2.798	-0.249900	0.05867	.	.	ENSG00000168631	ENST00000462446	T	0.42513	0.97	1.15	0.181	0.15073	.	.	.	.	.	T	0.01976	0.0062	N	0.00237	-1.79	0.09310	N	0.999999	P	0.38148	0.62	B	0.25405	0.06	T	0.30238	-0.9985	9	0.16420	T	0.52	.	5.6695	0.17715	0.3503:0.0:0.6497:0.0	.	836	E9PEI6	.	P	836	ENSP00000417182:Q836P	ENSP00000417182:Q836P	Q	+	2	0	DPCR1	31026727	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.895000	0.00340	-0.310000	0.08766	0.000000	0.15137	CAA		0.478	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		C	30918748	A	C	30918748	3	2	564	1	0	0	0	0	1	0	0	0	4714	130	5	5	2513	5	DPCR1	6	30918748	Missense_Mutation	SNP	A	TCGA-CW-5589-01A-01D-1534-10		30918748	140196319	17	30494											
CRIP3	401262	hgsc.bcm.edu;ucsc.edu	37	6	43273854	43273855	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr6:43273854_43273855insC	ENST00000274990.4	-	7	507_508	c.503_504insG	c.(502-504)ggafs	p.G168fs	ZNF318_ENST00000607252.1_5'Flank|CRIP3_ENST00000372569.3_Frame_Shift_Ins_p.G168fs			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	168	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGTAGGGGACTCCATCATGCTG	0.564																																																0																																										SO:0001589	frameshift_variant	401262			AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.504dupG	6.37:g.43273856_43273856dupC	ENSP00000274990:p.Gly168fs		A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Frame_Shift_Ins	INS	ENST00000274990.4	37																																																																																					0.564	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1			C	43273855	-	C	43273854	7	5	564	1	0	1	1	0	0	0	0	0	3878	1538	54	0	118	0	CRIP3	6	43273854	Frame_Shift_Ins	INS	-	TCGA-CW-5589-01A-01D-1534-10	12355106	43273854	127841213	18	30495											
POLH	5429	hgsc.bcm.edu;ucsc.edu	37	6	43581424	43581425	+	In_Frame_Ins	INS	-	-	TGT			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr6:43581424_43581425insTGT	ENST00000372236.4	+	11	1567_1568	c.1272_1273insTGT	c.(1273-1275)tgt>TGTtgt	p.425_425C>CC	POLH_ENST00000535400.1_In_Frame_Ins_p.363_363C>CC|POLH_ENST00000372226.1_Intron	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TGCTTTTCCTCTGTGCTACAAA	0.406								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																																							0																																										SO:0001652	inframe_insertion	5429	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1273_1275dupTGT	6.37:g.43581425_43581427dupTGT	ENSP00000361310:p.Cys425dup		O95160|Q6VMB5	In_Frame_Ins	INS	ENST00000372236.4	37	CCDS4902.1																																																																																				0.406	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		TGT	43581425	-	TGT	43581424	7	5	564	1	0	1	1	0	0	0	0	0	12204	900	32	0	1310	0	POLH	6	43581424	In_Frame_Ins	INS	-	TCGA-CW-5589-01A-01D-1534-10	307570	43581424	127533643	19	30496											
FIG4	9896	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	110083350	110083350	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr6:110083350A>C	ENST00000230124.3	+	12	1452	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T	FIG4_ENST00000441478.2_Missense_Mutation_p.K166T	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	443	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.K443T(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GTGGTGAAGAAAACAGGTTTC	0.358																																																1	Substitution - Missense(1)	kidney(1)											108	111	110					6																	110083350		2203	4299	6502	SO:0001583	missense	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1328A>C	6.37:g.110083350A>C	ENSP00000230124:p.Lys443Thr		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775210	0.49786	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.52754	1.88;0.65	5.51	5.51	0.81932	Synaptojanin, N-terminal (1);	0.114914	0.56097	D	0.000030	T	0.37625	0.1010	L	0.41356	1.27	0.46798	D	0.999206	P;P	0.50272	0.933;0.856	P;B	0.51582	0.674;0.347	T	0.10660	-1.0620	10	0.23891	T	0.37	-25.8848	15.6402	0.76993	1.0:0.0:0.0:0.0	.	166;443	F5H8L9;Q92562	.;FIG4_HUMAN	T	166;443	ENSP00000399443:K166T;ENSP00000230124:K443T	ENSP00000230124:K443T	K	+	2	0	FIG4	110190043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.678000	0.74508	2.097000	0.63578	0.528000	0.53228	AAA		0.358	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		C	110083350	A	C	110083350	3	2	564	1	0	0	0	0	1	0	0	0	5890	14	1	5	1374	5	FIG4	6	110083350	Missense_Mutation	SNP	A	TCGA-CW-5589-01A-01D-1534-10	66501926	110083350	61031717	20	30497											
BLVRA	644	hgsc.bcm.edu;ucsc.edu	37	7	43827571	43827572	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr7:43827571_43827572delGC	ENST00000402924.1	+	4	244_245	c.81_82delGC	c.(79-84)ttgcggfs	p.R28fs	BLVRA_ENST00000265523.4_Frame_Shift_Del_p.R28fs	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	28					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						TGAGGGACTTGCGGAATCCACA	0.554																																																0																																										SO:0001589	frameshift_variant	644			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.81_82delGC	7.37:g.43827571_43827572delGC	ENSP00000385757:p.Arg28fs		A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Frame_Shift_Del	DEL	ENST00000402924.1	37	CCDS5472.1																																																																																				0.554	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		-	43827572	GC	-	43827571	7	5	564	1	0	1	0	1	0	0	0	0	1451	1310	46	0	87	0	BLVRA	7	43827571	Frame_Shift_Del	DEL	GC	TCGA-CW-5589-01A-01D-1534-10		43827571	115311092	21	30498											
MLL5	55904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	104753209	104753209	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr7:104753209A>G	ENST00000311117.3	+	27	5551	c.5006A>G	c.(5005-5007)cAt>cGt	p.H1669R	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Missense_Mutation_p.H1669R|KMT2E_ENST00000334877.4_Missense_Mutation_p.H1627R	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1669	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.H1669R(1)									TCGCATATTCATTCTCAAACT	0.577																																																1	Substitution - Missense(1)	kidney(1)											80	78	79					7																	104753209		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5006A>G	7.37:g.104753209A>G	ENSP00000312379:p.His1669Arg		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	a	9.345	1.063934	0.20067	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93604	-3.22;-3.25;-3.22	3.67	2.39	0.29439	.	0.157476	0.29451	N	0.012106	D	0.91486	0.7312	N	0.19112	0.55	0.80722	D	1	P;D	0.57899	0.642;0.981	B;D	0.67231	0.141;0.95	D	0.88918	0.3364	10	0.37606	T	0.19	.	8.3945	0.32548	0.8247:0.0:0.0:0.1753	.	1589;1669	F8W6H1;Q8IZD2	.;MLL5_HUMAN	R	1669;1627;1589;1669	ENSP00000312379:H1669R;ENSP00000335599:H1627R;ENSP00000257745:H1669R	ENSP00000257745:H1669R	H	+	2	0	MLL5	104540445	1.000000	0.71417	0.988000	0.46212	0.953000	0.61014	4.068000	0.57534	1.326000	0.45319	0.248000	0.18094	CAT		0.577	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			G	104753209	A	G	104753209	3	3	564	1	0	0	0	0	1	0	0	0	9626	217	8	3	5104	3	MLL5	7	104753209	Missense_Mutation	SNP	A	TCGA-CW-5589-01A-01D-1534-10	60925638	104753209	54385454	22	30499											
POTEA	340441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	43152262	43152262	+	RNA	SNP	G	G	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr8:43152262G>A	ENST00000522175.2	+	0	401							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.R133R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCAAAAAGAGGACAGCTCTGA	0.383																																																1	Substitution - coding silent(1)	kidney(1)											92	90	91					8																	43152262		2175	4288	6463			340441			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152262G>A			A6ND17|A6ND71|Q6S8J6	Silent	SNP	ENST00000522175.2	37																																																																																					0.383	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		A	43152262	G	A	43152262	1	1	564	0	1	0	0	0	0	0	0	0	12263	1165	41	2		2	POTEA	8	43152262	RNA	SNP	G	TCGA-CW-5589-01A-01D-1534-10		43152262	103211760	23	30500											
ST18	9705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	53085059	53085059	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr8:53085059C>A	ENST00000276480.7	-	10	1045	c.362G>T	c.(361-363)tGt>tTt	p.C121F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	121					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C121F(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTCTTGATAACAAGAGTATCT	0.348																																																1	Substitution - Missense(1)	kidney(1)											51	53	52					8																	53085059		2203	4300	6503	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.362G>T	8.37:g.53085059C>A	ENSP00000276480:p.Cys121Phe		Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421463	0.25639	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.45668	0.93;0.89	5.25	4.37	0.52481	.	0.274088	0.41097	D	0.000960	T	0.36608	0.0973	L	0.47716	1.5	0.28376	N	0.919761	B	0.33448	0.412	B	0.31614	0.133	T	0.41233	-0.9520	10	0.51188	T	0.08	-2.6654	14.0932	0.65004	0.0:0.9262:0.0:0.0738	.	121	O60284	ST18_HUMAN	F	121	ENSP00000276480:C121F;ENSP00000428521:C121F	ENSP00000276480:C121F	C	-	2	0	ST18	53247612	0.046000	0.20272	0.803000	0.32268	0.445000	0.32107	1.389000	0.34453	2.445000	0.82738	0.655000	0.94253	TGT		0.348	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			A	53085059	C	A	53085059	3	1	564	1	0	0	0	0	1	0	0	0	15217	478	17	4	2849	4	ST18	8	53085059	Missense_Mutation	SNP	C	TCGA-CW-5589-01A-01D-1534-10	9932797	53085059	93278963	24	30501											
SLC39A4	55630	broad.mit.edu	37	8	145642062	145642062	+	Missense_Mutation	SNP	C	C	T	rs374966929		TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr8:145642062C>T	ENST00000301305.3	-	1	217	c.112G>A	c.(112-114)Gct>Act	p.A38T	SLC39A4_ENST00000276833.5_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	38					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.A38T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGATCCAGAGCGCCCTGGCCA	0.677																																																1	Substitution - Missense(1)	kidney(1)						C	THR/ALA	0,4404		0,0,2202	31	32	32		112	-0.2	0.1	8		32	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLC39A4	NM_130849.2	58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	38/648	145642062	1,12999	2202	4298	6500	SO:0001583	missense	55630			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.112G>A	8.37:g.145642062C>T	ENSP00000301305:p.Ala38Thr		Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607703	0.46527	0.0	1.16E-4	ENSG00000147804	ENST00000301305;ENST00000526658	T;T	0.58652	0.33;0.32	4.23	-0.164	0.13359	.	1.576910	0.04196	N	0.329087	T	0.36441	0.0967	N	0.19112	0.55	0.09310	N	0.999999	B	0.24533	0.105	B	0.10450	0.005	T	0.10132	-1.0643	10	0.17832	T	0.49	0.2853	2.9893	0.05978	0.2081:0.452:0.0:0.3399	.	38	Q6P5W5	S39A4_HUMAN	T	38	ENSP00000301305:A38T;ENSP00000434512:A38T	ENSP00000301305:A38T	A	-	1	0	SLC39A4	145612870	0.000000	0.05858	0.120000	0.21714	0.199000	0.23934	-3.764000	0.00372	0.113000	0.18004	0.306000	0.20318	GCT		0.677	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			T	145642062	C	T	145642062	3	4	564	1	0	0	0	0	1	0	0	0	14626	768	27	1	1996	1	SLC39A4	8	145642062	Missense_Mutation	SNP	C	TCGA-CW-5589-01A-01D-1534-10	92557003	145642062	721960	25	30502											
ARHGAP39	80728	broad.mit.edu;hgsc.bcm.edu	37	8	145759519	145759519	+	Silent	SNP	G	G	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr8:145759519G>A	ENST00000276826.5	-	6	2790	c.2589C>T	c.(2587-2589)gcC>gcT	p.A863A	ARHGAP39_ENST00000540274.1_Silent_p.A863A|ARHGAP39_ENST00000377307.2_Silent_p.A894A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	863	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.A894A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GTACCTTCTTGGCCCCGGTCA	0.637																																																1	Substitution - coding silent(1)	kidney(1)											80	79	79					8																	145759519		2203	4300	6503	SO:0001819	synonymous_variant	80728				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2589C>T	8.37:g.145759519G>A			B4E1I1	Silent	SNP	ENST00000276826.5	37																																																																																					0.637	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			A	145759519	G	A	145759519	2	1	564	1	0	0	0	0	0	0	0	1	884	1335	47	2		2	ARHGAP39	8	145759519	Silent	SNP	G	TCGA-CW-5589-01A-01D-1534-10	117457	145759519	604503	26	30503											
SYK	6850	broad.mit.edu;ucsc.edu	37	9	93606288	93606288	+	Silent	SNP	T	T	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr9:93606288T>C	ENST00000375754.4	+	2	256	c.108T>C	c.(106-108)gaT>gaC	p.D36D	SYK_ENST00000375746.1_Silent_p.D36D|SYK_ENST00000375751.4_Silent_p.D36D|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Silent_p.D36D	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	36	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.D36D(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCATGAGTGATGGGCTTTATT	0.627			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	2	Substitution - coding silent(2)	kidney(2)											61	41	48					9																	93606288		2203	4300	6503	SO:0001819	synonymous_variant	6850			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.108T>C	9.37:g.93606288T>C				Silent	SNP	ENST00000375754.4	37	CCDS6688.1																																																																																				0.627	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			C	93606288	T	C	93606288	2	2	564	1	0	0	0	0	0	0	0	1	15443	1461	51	3		3	SYK	9	93606288	Silent	SNP	T	TCGA-CW-5589-01A-01D-1534-10		93606288	47607143	27	30504											
SH3GLB2	56904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131772971	131772971	+	Splice_Site	SNP	A	A	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr9:131772971A>C	ENST00000372564.3	-	7	771	c.626T>G	c.(625-627)cTc>cGc	p.L209R	SH3GLB2_ENST00000416629.1_Splice_Site_p.L188R|SH3GLB2_ENST00000372554.4_Splice_Site_p.L213R|SH3GLB2_ENST00000417224.1_Splice_Site_p.L209R|SH3GLB2_ENST00000372559.1_Splice_Site_p.L209R	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	209	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)		p.L209R(1)		NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						ATCATTCCAGAGCTGTGGAGA	0.642																																																1	Substitution - Missense(1)	kidney(1)											63	57	59					9																	131772971		2203	4300	6503	SO:0001630	splice_region_variant	56904			AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"SH3-domain, GRB2-like, endophilin B2"			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.625-1T>G	9.37:g.131772971A>C			A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397431	0.83120	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.25085	1.82;1.82;1.98;1.87;2.02	5.23	5.23	0.72850	BAR (3);	0.064015	0.64402	D	0.000004	T	0.44117	0.1278	M	0.68317	2.08	0.80722	D	1	D;D	0.58970	0.984;0.973	P;P	0.59012	0.85;0.777	T	0.43491	-0.9388	10	0.87932	D	0	2.5901	12.4894	0.55891	1.0:0.0:0.0:0.0	.	213;209	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	R	209;209;213;213;209;188	ENSP00000361645:L209R;ENSP00000361640:L209R;ENSP00000361634:L213R;ENSP00000402566:L209R;ENSP00000388282:L188R	ENSP00000361634:L213R	L	-	2	0	SH3GLB2	130812792	1.000000	0.71417	0.996000	0.52242	0.831000	0.47069	5.995000	0.70631	1.976000	0.57569	0.459000	0.35465	CTC		0.642	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2		Missense_Mutation	C	131772971	A	C	131772971	5	2	564	1	0	0	0	0	0	0	1	0	14260	318	11	5	581	5	SH3GLB2	9	131772971	Splice_Site	SNP	A	TCGA-CW-5589-01A-01D-1534-10	38166683	131772971	9440460	28	30505											
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	17110704	17110704	+	Silent	SNP	T	T	G			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr10:17110704T>G	ENST00000377833.4	-	20	2756	c.2691A>C	c.(2689-2691)tcA>tcC	p.S897S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	897	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S897S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGTTATAAATGAAGGTATGT	0.338																																																1	Substitution - coding silent(1)	kidney(1)											121	127	125					10																	17110704		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2691A>C	10.37:g.17110704T>G			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.338	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		G	17110704	T	G	17110704	2	3	564	1	0	0	0	0	0	0	0	1	4053	1451	51	5		5	CUBN	10	17110704	Silent	SNP	T	TCGA-CW-5589-01A-01D-1534-10		17110704	118424043	29	30506											
DCLRE1A	9937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	115609321	115609321	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr10:115609321C>T	ENST00000361384.2	-	2	2460	c.1543G>A	c.(1543-1545)Gtt>Att	p.V515I	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.V515I	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	515	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.V515I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GCTTTACCAACTGGCACACCC	0.343								Other identified genes with known or suspected DNA repair function																																								1	Substitution - Missense(1)	kidney(1)											87	89	89					10																	115609321		2203	4300	6503	SO:0001583	missense	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1543G>A	10.37:g.115609321C>T	ENSP00000355185:p.Val515Ile		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970570	0.34754	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.63417	-0.04;-0.04	5.91	1.93	0.25924	.	1.574190	0.03039	N	0.153100	T	0.48429	0.1499	N	0.22421	0.69	0.09310	N	1	B	0.23490	0.086	B	0.23275	0.045	T	0.32268	-0.9913	10	0.37606	T	0.19	0.9567	5.2586	0.15561	0.1412:0.635:0.0:0.2238	.	515	Q6PJP8	DCR1A_HUMAN	I	515	ENSP00000355185:V515I;ENSP00000358311:V515I	ENSP00000355185:V515I	V	-	1	0	DCLRE1A	115599311	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.485000	0.06520	0.384000	0.24942	0.650000	0.86243	GTT		0.343	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		T	115609321	C	T	115609321	3	4	564	1	0	0	0	0	1	0	0	0	4296	565	20	2	1611	2	DCLRE1A	10	115609321	Missense_Mutation	SNP	C	TCGA-CW-5589-01A-01D-1534-10	98498617	115609321	19925426	30	30507											
EBF3	253738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	131638545	131638545	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr10:131638545G>A	ENST00000355311.5	-	15	1795	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	EBF3_ENST00000368648.3_Missense_Mutation_p.P530S			Q9H4W6	COE3_HUMAN	early B-cell factor 3	575					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P575S(1)|p.P530S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTGCAGGAAGGAGGAGGAGAG	0.642																																																2	Substitution - Missense(2)	kidney(2)											36	34	35					10																	131638545		2197	4297	6494	SO:0001583	missense	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1723C>T	10.37:g.131638545G>A	ENSP00000347463:p.Pro575Ser		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.411152|3.411152	0.62399|0.62399	.|.	.|.	ENSG00000108001|ENSG00000108001	ENST00000355311;ENST00000368648|ENST00000440978	T;T|.	0.57107|.	0.42;0.42|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79604|0.79604	0.4474|0.4474	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	B|.	0.17268|.	0.021|.	B|.	0.22880|.	0.042|.	T|T	0.82587|0.82587	-0.0383|-0.0383	10|5	0.48119|.	T|.	0.1|.	-5.3781|-5.3781	17.6452|17.6452	0.88146|0.88146	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	530|.	Q9H4W6-2|.	.|.	S|F	575;530|136	ENSP00000347463:P575S;ENSP00000357637:P530S|.	ENSP00000347463:P575S|.	P|S	-|-	1|2	0|0	EBF3|EBF3	131528535|131528535	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.964000|0.964000	0.63967|0.63967	9.759000|9.759000	0.98931|0.98931	2.220000|2.220000	0.72140|0.72140	0.462000|0.462000	0.41574|0.41574	CCT|TCC		0.642	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		A	131638545	G	A	131638545	3	1	564	1	0	0	0	0	1	0	0	0	4884	1174	41	2	75	2	EBF3	10	131638545	Missense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10	16029224	131638545	3896202	31	30508											
PHRF1	57661	broad.mit.edu	37	11	608822	608822	+	Silent	SNP	G	G	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr11:608822G>A	ENST00000264555.5	+	14	3494	c.3366G>A	c.(3364-3366)gaG>gaA	p.E1122E	PHRF1_ENST00000533464.1_Silent_p.E1118E|PHRF1_ENST00000416188.2_Silent_p.E1121E|PHRF1_ENST00000413872.2_Silent_p.E1120E	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1122	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.E1122E(1)|p.E1127E(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGGGAAGGGAGTGCTCCCCCA	0.637																																																2	Substitution - coding silent(2)	kidney(2)											24	30	28					11																	608822		2199	4295	6494	SO:0001819	synonymous_variant	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3366G>A	11.37:g.608822G>A			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37																																																																																					0.637	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		A	608822	G	A	608822	2	1	564	1	0	0	0	0	0	0	0	1	11863	1020	36	2		2	PHRF1	11	608822	Silent	SNP	G	TCGA-CW-5589-01A-01D-1534-10		608822	134397694	32	30509											
DEAF1	10522	broad.mit.edu;hgsc.bcm.edu	37	11	687971	687971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr11:687971C>A	ENST00000382409.3	-	4	1088	c.604G>T	c.(604-606)Gag>Tag	p.E202*	DEAF1_ENST00000338675.6_Nonsense_Mutation_p.E202*	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	202	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.		E -> D (in a primary colorectal cancer). {ECO:0000269|PubMed:11705868}.|YDSE -> CDND (in a primary colorectal cancer).		anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E202*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		ACGGGCAGCTCACTGTCGTAC	0.552																																																1	Substitution - Nonsense(1)	kidney(1)											79	79	79					11																	687971		2203	4300	6503	SO:0001587	stop_gained	10522			AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"Zinc fingers, MYND-type"	14677	protein-coding gene	gene with protein product		602635	"deformed epidermal autoregulatory factor 1 (Drosophila)"			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.604G>T	11.37:g.687971C>A	ENSP00000371846:p.Glu202*		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Nonsense_Mutation	SNP	ENST00000382409.3	37	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	C	43	9.827621	0.99273	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-37.0204	16.9509	0.86245	0.0:1.0:0.0:0.0	.	.	.	.	X	202;202;188;125	.	ENSP00000341902:E202X	E	-	1	0	DEAF1	677971	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	5.764000	0.68826	2.349000	0.79799	0.655000	0.94253	GAG		0.552	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		A	687971	C	A	687971	4	1	564	1	0	0	0	0	0	1	0	0	4382	835	29	4	1129	4	DEAF1	11	687971	Nonsense_Mutation	SNP	C	TCGA-CW-5589-01A-01D-1534-10	79149	687971	134318545	33	30510											
OR5AR1	219493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56431747	56431747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr11:56431747G>T	ENST00000302969.2	+	1	610	c.586G>T	c.(586-588)Gag>Tag	p.E196*		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E196*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CTACATCAGTGAGATCTTGCT	0.448																																																1	Substitution - Nonsense(1)	kidney(1)											197	169	179					11																	56431747		2201	4296	6497	SO:0001587	stop_gained	219493			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.586G>T	11.37:g.56431747G>T	ENSP00000302639:p.Glu196*		Q6IF61	Nonsense_Mutation	SNP	ENST00000302969.2	37	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894067	0.72639	.	.	ENSG00000172459	ENST00000302969	.	.	.	4.91	4.91	0.64330	.	0.000000	0.48286	D	0.000199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	15.41	0.74911	0.0:0.0:1.0:0.0	.	.	.	.	X	196	.	ENSP00000302639:E196X	E	+	1	0	OR5AR1	56188323	0.824000	0.29247	0.996000	0.52242	0.983000	0.72400	3.225000	0.51246	2.554000	0.86153	0.573000	0.79308	GAG		0.448	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		T	56431747	G	T	56431747	4	4	564	1	0	0	0	0	0	1	0	0	11147	1291	45	4	588	4	OR5AR1	11	56431747	Nonsense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10	55743776	56431747	78574769	34	30511											
SSH3	54961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	67072383	67072383	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr11:67072383G>A	ENST00000308127.4	+	3	422	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	SSH3_ENST00000308298.7_Missense_Mutation_p.G82R|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.G82R	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	82					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G82R(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACAGACTTCGGGCAAGGATC	0.617																																																1	Substitution - Missense(1)	kidney(1)											50	51	51					11																	67072383		2199	4295	6494	SO:0001583	missense	54961			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.244G>A	11.37:g.67072383G>A	ENSP00000312081:p.Gly82Arg		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.700273	0.30142	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.32988	3.55;1.43;3.71	5.06	3.07	0.35406	.	3.311630	0.00918	N	0.002558	T	0.29556	0.0737	L	0.31664	0.95	0.29908	N	0.823846	D	0.58620	0.983	P	0.45856	0.495	T	0.21314	-1.0249	10	0.62326	D	0.03	-26.039	5.8242	0.18544	0.098:0.0:0.7134:0.1886	.	82	Q8TE77	SSH3_HUMAN	R	82	ENSP00000312081:G82R;ENSP00000310055:G82R;ENSP00000365948:G82R	ENSP00000312081:G82R	G	+	1	0	SSH3	66828959	0.685000	0.27652	0.912000	0.35992	0.201000	0.24016	1.886000	0.39688	1.145000	0.42336	-0.221000	0.12465	GGG		0.617	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		A	67072383	G	A	67072383	3	1	564	1	0	0	0	0	1	0	0	0	15191	1116	39	1	254	1	SSH3	11	67072383	Missense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10	10640636	67072383	67934133	35	30512											
PRB1	5542	broad.mit.edu;hgsc.bcm.edu	37	12	11506647	11506647	+	Intron	SNP	T	T	C	rs372620668		TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr12:11506647T>C	ENST00000500254.2	-	3	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTGGGGGACCTTGAGGTCTGT	0.617																																																0													16	13	14					12																	11506647		1287	2274	3561	SO:0001627	intron_variant	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+76A>G	12.37:g.11506647T>C			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.617	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		C	11506647	T	C	11506647	1	2	564	0	1	0	0	0	0	0	0	0	12447	1606	56	3		3	PRB1	12	11506647	Intron	SNP	T	TCGA-CW-5589-01A-01D-1534-10		11506647	122345248	36	30513											
TMTC2	160335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	83525988	83525988	+	Splice_Site	SNP	G	G	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr12:83525988G>C	ENST00000321196.3	+	12	3038		c.e12-1		TMTC2_ENST00000549919.1_Splice_Site	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2						calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCTTGTTGCAGTATCCGGCTG	0.478																																																1	Unknown(1)	kidney(1)											94	85	88					12																	83525988		2203	4300	6503	SO:0001630	splice_region_variant	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2332-1G>C	12.37:g.83525988G>C			B2RCU7|Q8N2K8	Splice_Site	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772442	0.31411	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3253	0.90251	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMTC2	82050119	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	9.804000	0.99143	2.581000	0.87130	0.591000	0.81541	.		0.478	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	Intron	C	83525988	G	C	83525988	5	2	564	1	0	0	0	0	0	0	1	0	16266	1043	36	4	2377	4	TMTC2	12	83525988	Splice_Site	SNP	G	TCGA-CW-5589-01A-01D-1534-10	72019341	83525988	50325907	37	30514											
DTX1	1840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113531851	113531851	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr12:113531851C>G	ENST00000257600.3	+	5	1677	c.1174C>G	c.(1174-1176)Ccc>Gcc	p.P392A	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	392					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P392A(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGGTAAGAATCCCGAGGATGT	0.622																																																1	Substitution - Missense(1)	kidney(1)											29	25	27					12																	113531851		2198	4293	6491	SO:0001583	missense	1840			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1174C>G	12.37:g.113531851C>G	ENSP00000257600:p.Pro392Ala		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389356	0.61956	.	.	ENSG00000135144	ENST00000257600	T	0.67865	-0.29	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.69931	0.3166	M	0.61703	1.905	0.58432	D	0.999997	P	0.36048	0.534	P	0.45377	0.478	T	0.68693	-0.5341	10	0.27785	T	0.31	-1.8241	15.1345	0.72552	0.0:1.0:0.0:0.0	.	392	Q86Y01	DTX1_HUMAN	A	392	ENSP00000257600:P392A	ENSP00000257600:P392A	P	+	1	0	DTX1	112016234	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.545000	0.82128	2.000000	0.58554	0.462000	0.41574	CCC		0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			G	113531851	C	G	113531851	3	3	564	1	0	0	0	0	1	0	0	0	4795	855	30	4	1192	4	DTX1	12	113531851	Missense_Mutation	SNP	C	TCGA-CW-5589-01A-01D-1534-10	30005863	113531851	20320044	38	30515											
HIP1R	9026	broad.mit.edu	37	12	123345228	123345228	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr12:123345228A>G	ENST00000253083.4	+	28	2788	c.2663A>G	c.(2662-2664)gAg>gGg	p.E888G		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	888	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.|Important for actin binding.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)	p.E888G(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACCCGCAGGGAGGCAGCTGAC	0.662											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											53	53	53					12																	123345228		2203	4300	6503	SO:0001583	missense	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2663A>G	12.37:g.123345228A>G	ENSP00000253083:p.Glu888Gly	1526	A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	CCDS31922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.7|24.7	4.564392|4.564392	0.86335|0.86335	.|.	.|.	ENSG00000130787|ENSG00000130787	ENST00000253083|ENST00000535012	T|.	0.37235|.	1.21|.	5.31|5.31	5.31|5.31	0.75309|0.75309	I/LWEQ (4);|.	0.152411|.	0.56097|.	D|.	0.000021|.	T|T	0.76492|0.76492	0.3995|0.3995	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	D|.	0.53462|.	0.96|.	P|.	0.59703|.	0.862|.	T|T	0.78378|0.78378	-0.2227|-0.2227	10|5	0.72032|.	D|.	0.01|.	-41.0868|-41.0868	14.9361|14.9361	0.70957|0.70957	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	888|.	O75146|.	HIP1R_HUMAN|.	G|G	888|17	ENSP00000253083:E888G|.	ENSP00000253083:E888G|.	E|R	+|+	2|1	0|2	HIP1R|HIP1R	121911181|121911181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.553000|0.553000	0.35397|0.35397	9.269000|9.269000	0.95684|0.95684	2.003000|2.003000	0.58678|0.58678	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.662	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		G	123345228	A	G	123345228	3	3	564	1	0	0	0	0	1	0	0	0	7117	304	11	3	2773	3	HIP1R	12	123345228	Missense_Mutation	SNP	A	TCGA-CW-5589-01A-01D-1534-10	9813377	123345228	10506667	39	30516											
LATS2	26524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	21562131	21562131	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr13:21562131G>C	ENST00000382592.4	-	4	2193	c.1788C>G	c.(1786-1788)agC>agG	p.S596R	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Missense_Mutation_p.S596R	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.S596R(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ATGGCGAGTAGCTCTTGATGC	0.512																																																2	Substitution - Missense(2)	kidney(2)											260	263	262					13																	21562131		2203	4300	6503	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1788C>G	13.37:g.21562131G>C	ENSP00000372035:p.Ser596Arg			Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209403	0.58343	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.41758	0.99;0.99	5.12	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	L	0.49126	1.545	0.42017	D	0.99096	P	0.50943	0.94	P	0.45474	0.482	T	0.16012	-1.0417	10	0.33940	T	0.23	.	9.1378	0.36886	0.283:0.0:0.717:0.0	.	596	Q9NRM7	LATS2_HUMAN	R	596	ENSP00000372035:S596R;ENSP00000441817:S596R	ENSP00000372035:S596R	S	-	3	2	LATS2	20460131	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.446000	0.35090	1.385000	0.46445	0.549000	0.68633	AGC		0.512	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			C	21562131	G	C	21562131	3	2	564	1	0	0	0	0	1	0	0	0	8649	962	34	4	1498	4	LATS2	13	21562131	Missense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10		21562131	93607747	40	30517											
NEK5	341676	broad.mit.edu;hgsc.bcm.edu	37	13	52661584	52661584	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr13:52661584G>C	ENST00000355568.4	-	15	1421	c.1282C>G	c.(1282-1284)Cgt>Ggt	p.R428G		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	428					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R485G(1)|p.R428G(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAGATGGACGAAGACCCTAT	0.343																																																2	Substitution - Missense(2)	kidney(2)											108	101	103					13																	52661584		2203	4300	6503	SO:0001583	missense	341676			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1282C>G	13.37:g.52661584G>C	ENSP00000347767:p.Arg428Gly		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703753	0.48412	.	.	ENSG00000197168	ENST00000355568	T	0.78924	-1.22	5.45	2.83	0.33086	.	0.000000	0.64402	D	0.000003	D	0.84005	0.5377	M	0.65498	2.005	0.23798	N	0.996816	D	0.89917	1.0	D	0.87578	0.998	T	0.74103	-0.3773	10	0.72032	D	0.01	.	7.7703	0.29004	0.2616:0.0:0.7384:0.0	.	428	Q6P3R8	NEK5_HUMAN	G	428	ENSP00000347767:R428G	ENSP00000347767:R428G	R	-	1	0	NEK5	51559585	1.000000	0.71417	0.992000	0.48379	0.707000	0.40811	1.885000	0.39678	0.286000	0.22352	-0.812000	0.03155	CGT		0.343	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		C	52661584	G	C	52661584	3	2	564	1	0	0	0	0	1	0	0	0	10329	1058	37	4	876	4	NEK5	13	52661584	Missense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10	31099453	52661584	62508294	41	30518											
PCNX	22990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	71524405	71524405	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr14:71524405C>G	ENST00000304743.2	+	26	5262	c.4816C>G	c.(4816-4818)Ctg>Gtg	p.L1606V	PCNX_ENST00000238570.5_Intron|PCNX_ENST00000439984.3_Missense_Mutation_p.L1495V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1606						integral component of membrane (GO:0016021)		p.L1606V(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGGCAATGGTCTGGTCACTTT	0.438																																																1	Substitution - Missense(1)	kidney(1)											257	254	255					14																	71524405		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4816C>G	14.37:g.71524405C>G	ENSP00000304192:p.Leu1606Val		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622748	0.66787	.	.	ENSG00000100731	ENST00000304743;ENST00000439984	T;T	0.11169	3.19;2.8	5.58	4.69	0.59074	.	0.000000	0.64402	D	0.000001	T	0.22627	0.0546	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72625	0.956;0.978	T	0.00775	-1.1571	10	0.44086	T	0.13	.	9.3084	0.37889	0.0:0.7937:0.0:0.2063	.	1495;1606	B2RTR6;Q96RV3	.;PCX1_HUMAN	V	1606;1495	ENSP00000304192:L1606V;ENSP00000396617:L1495V	ENSP00000304192:L1606V	L	+	1	2	PCNX	70594158	0.980000	0.34600	0.987000	0.45799	0.968000	0.65278	1.949000	0.40313	1.354000	0.45846	0.591000	0.81541	CTG		0.438	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		G	71524405	C	G	71524405	3	3	564	1	0	0	0	0	1	0	0	0	11593	912	32	4	4918	4	PCNX	14	71524405	Missense_Mutation	SNP	C	TCGA-CW-5589-01A-01D-1534-10		71524405	35825135	42	30519											
DPF3	8110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	73141008	73141008	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr14:73141008T>C	ENST00000556509.1	-	8	810	c.811A>G	c.(811-813)Atg>Gtg	p.M271V	DPF3_ENST00000541685.1_Missense_Mutation_p.M271V|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.M281V	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	271					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.M270V(1)|p.M271V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCTTGTTCATGTTGGAGCCC	0.547																																																2	Substitution - Missense(2)	kidney(2)											56	63	61					14																	73141008		2058	4205	6263	SO:0001583	missense	8110			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.811A>G	14.37:g.73141008T>C	ENSP00000450518:p.Met271Val		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37		.	.	.	.	.	.	.	.	.	.	T	10.87	1.474095	0.26423	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.89746	-2.56;-0.03;-0.04	5.5	5.5	0.81552	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	D	0.83266	0.5217	L	0.27053	0.805	0.32672	N	0.516669	B;B;B	0.19706	0.038;0.035;0.002	B;B;B	0.15870	0.014;0.01;0.005	T	0.82678	-0.0338	9	0.40728	T	0.16	.	15.7832	0.78281	0.0:0.0:0.0:1.0	.	281;271;271	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	V	271;270;271;281	ENSP00000450518:M271V;ENSP00000441640:M271V;ENSP00000444662:M281V	ENSP00000381791:M326V	M	-	1	0	DPF3	72210761	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.564000	0.36375	2.302000	0.77476	0.533000	0.62120	ATG		0.547	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			C	73141008	T	C	73141008	3	2	564	1	0	0	0	0	1	0	0	0	4720	1464	51	3	270	3	DPF3	14	73141008	Missense_Mutation	SNP	T	TCGA-CW-5589-01A-01D-1534-10	1616603	73141008	34208532	43	30520											
GTF2A1	2957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	81682787	81682787	+	Silent	SNP	C	C	T			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr14:81682787C>T	ENST00000553612.1	-	2	505	c.102G>A	c.(100-102)gtG>gtA	p.V34V	GTF2A1_ENST00000434192.2_5'UTR	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	34					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.V34V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CTTGTTCATCCACTCCATCAT	0.323																																																1	Substitution - coding silent(1)	kidney(1)											70	69	69					14																	81682787		2203	4300	6503	SO:0001819	synonymous_variant	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.102G>A	14.37:g.81682787C>T			Q3KNQ9	Silent	SNP	ENST00000553612.1	37	CCDS9873.1																																																																																				0.323	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		T	81682787	C	T	81682787	2	4	564	1	0	0	0	0	0	0	0	1	6854	581	21	2		2	GTF2A1	14	81682787	Silent	SNP	C	TCGA-CW-5589-01A-01D-1534-10	8541779	81682787	25666753	44	30521											
UBE3A	7337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	25616769	25616769	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr15:25616769G>C	ENST00000397954.2	-	4	560	c.561C>G	c.(559-561)gaC>gaG	p.D187E	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.D164E|UBE3A_ENST00000232165.3_Missense_Mutation_p.D184E|UBE3A_ENST00000566215.1_Missense_Mutation_p.D164E|UBE3A_ENST00000438097.1_Missense_Mutation_p.D164E			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	187					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.D187E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTTCATCTTTGTCTTCATCTT	0.423																																																1	Substitution - Missense(1)	kidney(1)											167	163	165					15																	25616769		2203	4300	6503	SO:0001583	missense	7337			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.561C>G	15.37:g.25616769G>C	ENSP00000381045:p.Asp187Glu		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236490	0.39498	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.22743	1.95;1.94;1.94;1.94	5.84	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.17109	0.0411	L	0.49350	1.555	0.58432	D	0.999997	B;P	0.35077	0.035;0.483	B;B	0.27887	0.013;0.084	T	0.03103	-1.1072	10	0.59425	D	0.04	.	8.7247	0.34463	0.283:0.0:0.717:0.0	.	184;187	Q05086-3;Q05086	.;UBE3A_HUMAN	E	184;184;187;164;164	ENSP00000232165:D184E;ENSP00000381045:D187E;ENSP00000411258:D164E;ENSP00000401265:D164E	ENSP00000232165:D184E	D	-	3	2	UBE3A	23167862	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	0.377000	0.20552	0.830000	0.34757	0.591000	0.81541	GAC		0.423	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		C	25616769	G	C	25616769	3	2	564	1	0	0	0	0	1	0	0	0	16884	1368	48	4	2098	4	UBE3A	15	25616769	Missense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10		25616769	76914623	45	30522											
RAB8B	51762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63547744	63547744	+	Silent	SNP	C	C	G			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr15:63547744C>G	ENST00000321437.4	+	4	441	c.285C>G	c.(283-285)tcC>tcG	p.S95S	RAB8B_ENST00000448330.2_Silent_p.S95S	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	95					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)	p.S95S(1)		kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						ATGAAAAATCCTTTGACAATA	0.328																																																1	Substitution - coding silent(1)	kidney(1)											56	60	59					15																	63547744		2203	4300	6503	SO:0001819	synonymous_variant	51762			AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"RAB, member RAS oncogene"	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.285C>G	15.37:g.63547744C>G			Q5JPC4|Q9P293	Silent	SNP	ENST00000321437.4	37	CCDS10183.1																																																																																				0.328	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	NM_016530		G	63547744	C	G	63547744	2	3	564	1	0	0	0	0	0	0	0	1	12963	668	24	4		4	RAB8B	15	63547744	Silent	SNP	C	TCGA-CW-5589-01A-01D-1534-10	37930975	63547744	38983648	46	30523											
DENND4A	10260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	66044741	66044741	+	Silent	SNP	G	G	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr15:66044741G>A	ENST00000431932.2	-	4	745	c.537C>T	c.(535-537)gtC>gtT	p.V179V	DENND4A_ENST00000443035.3_Silent_p.V179V	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	179	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V179V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GATTCTTGTCGACTTTGCAGA	0.363																																																2	Substitution - coding silent(2)	kidney(2)											96	89	92					15																	66044741		1916	4128	6044	SO:0001819	synonymous_variant	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.537C>T	15.37:g.66044741G>A			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	CCDS45285.1																																																																																				0.363	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		A	66044741	G	A	66044741	2	1	564	1	0	0	0	0	0	0	0	1	4435	1045	37	1		1	DENND4A	15	66044741	Silent	SNP	G	TCGA-CW-5589-01A-01D-1534-10	2496997	66044741	36486651	47	30524											
NLGN2	57555	broad.mit.edu;hgsc.bcm.edu	37	17	7319145	7319145	+	Silent	SNP	G	G	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr17:7319145G>C	ENST00000302926.2	+	6	1426	c.1353G>C	c.(1351-1353)ctG>ctC	p.L451L	NLGN2_ENST00000575301.1_Silent_p.L451L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	451					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.L451L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCAAAACCCTGCTGGCGCTCT	0.572																																																1	Substitution - coding silent(1)	kidney(1)											65	63	64					17																	7319145		2203	4300	6503	SO:0001819	synonymous_variant	57555			AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1353G>C	17.37:g.7319145G>C			Q9P2I1	Silent	SNP	ENST00000302926.2	37	CCDS11103.1																																																																																				0.572	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		C	7319145	G	C	7319145	2	2	564	1	0	0	0	0	0	0	0	1	10464	1306	46	4		4	NLGN2	17	7319145	Silent	SNP	G	TCGA-CW-5589-01A-01D-1534-10		7319145	73876065	48	30525											
SPAG5	10615	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26905536	26905536	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr17:26905536T>A	ENST00000321765.5	-	21	3541	c.3209A>T	c.(3208-3210)gAg>gTg	p.E1070V	ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395321.2_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1070					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.E1070V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GGTCACCTCCTCTCTAAGGCT	0.537																																																1	Substitution - Missense(1)	kidney(1)											70	71	70					17																	26905536		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.3209A>T	17.37:g.26905536T>A	ENSP00000323300:p.Glu1070Val		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	t	17.58	3.426021	0.62733	.	.	ENSG00000076382	ENST00000321765	T	0.33438	1.41	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000018	T	0.45135	0.1327	L	0.36672	1.1	0.38428	D	0.946366	D	0.89917	1.0	D	0.91635	0.999	T	0.48410	-0.9038	10	0.59425	D	0.04	-14.3707	13.0493	0.58946	0.0:0.0:0.0:1.0	.	1070	Q96R06	SPAG5_HUMAN	V	1070	ENSP00000323300:E1070V	ENSP00000323300:E1070V	E	-	2	0	SPAG5	23929663	0.209000	0.23505	1.000000	0.80357	0.988000	0.76386	1.604000	0.36804	2.076000	0.62316	0.529000	0.55759	GAG		0.537	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		A	26905536	T	A	26905536	3	1	564	1	0	0	0	0	1	0	0	0	14987	1551	54	5	388	5	SPAG5	17	26905536	Missense_Mutation	SNP	T	TCGA-CW-5589-01A-01D-1534-10	19586391	26905536	54289674	49	30526											
SGK494	9703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26939689	26939689	+	IGR	SNP	G	G	T			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr17:26939689G>T	ENST00000528896.2	-	0	7407				SGK494_ENST00000301037.5_Missense_Mutation_p.P165H|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron|RP11-192H23.4_ENST00000577790.1_Intron|RP11-192H23.6_ENST00000579019.2_RNA|SPAG5-AS1_ENST00000424210.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)		p.P165H(1)|p.P204H(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGTACAAAGGGATGGTTGAT	0.488																																																2	Substitution - Missense(2)	kidney(2)											121	100	107					17																	26939689		2203	4300	6503	SO:0001628	intergenic_variant	124923			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26939689G>T			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301780	0.81136	.	.	ENSG00000167524	ENST00000301037;ENST00000530121	T;T	0.12465	2.68;2.68	5.97	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	M	0.87097	2.86	0.51767	D	0.999936	D	0.89917	1.0	D	0.97110	1.0	T	0.50508	-0.8820	10	0.87932	D	0	-10.4308	13.6111	0.62078	0.0:0.0:0.8446:0.1554	.	165	Q96LW2	SG494_HUMAN	H	165;161	ENSP00000301037:P165H;ENSP00000434603:P161H	ENSP00000301037:P165H	P	-	2	0	AC005726.6	23963816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.692000	0.74578	1.513000	0.48852	0.655000	0.94253	CCC		0.488	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		T	26939689	G	T	26939689	1	4	564	0	1	0	0	0	0	0	0	0	14219	1232	43	4		4	SGK494	17	26939689	IGR	SNP	G	TCGA-CW-5589-01A-01D-1534-10	34153	26939689	54255521	50	30527											
SUZ12	23512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30321020	30321020	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr17:30321020A>C	ENST00000322652.5	+	12	1659	c.1430A>C	c.(1429-1431)aAc>aCc	p.N477T	SUZ12_ENST00000580398.1_Missense_Mutation_p.N454T	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	477					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.N477T(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTTATCTTCAACTATGTTGTG	0.333			T	JAZF1	endometrial stromal tumours																																		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	1	Substitution - Missense(1)	kidney(1)											62	59	60					17																	30321020		2203	4300	6503	SO:0001583	missense	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1430A>C	17.37:g.30321020A>C	ENSP00000316578:p.Asn477Thr		Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	a	12.36	1.913393	0.33815	.	.	ENSG00000178691	ENST00000322652	T	0.39997	1.05	5.38	5.38	0.77491	.	0.183132	0.56097	D	0.000034	T	0.25121	0.0610	N	0.16790	0.44	0.48632	D	0.99968	B;P	0.43024	0.002;0.798	B;B	0.39465	0.001;0.3	T	0.12041	-1.0563	10	0.02654	T	1	-1.398	15.4188	0.74995	1.0:0.0:0.0:0.0	.	477;477	A8K1U9;Q15022	.;SUZ12_HUMAN	T	477	ENSP00000316578:N477T	ENSP00000316578:N477T	N	+	2	0	SUZ12	27345133	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.448000	0.80631	2.044000	0.60594	0.524000	0.50904	AAC		0.333	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		C	30321020	A	C	30321020	3	2	564	1	0	0	0	0	1	0	0	0	15421	43	2	5	1476	5	SUZ12	17	30321020	Missense_Mutation	SNP	A	TCGA-CW-5589-01A-01D-1534-10	3381331	30321020	50874190	51	30528											
RARA	5914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38508596	38508596	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr17:38508596A>G	ENST00000254066.5	+	6	1099	c.644A>G	c.(643-645)gAa>gGa	p.E215G	RARA_ENST00000394089.2_Missense_Mutation_p.E215G|RARA_ENST00000394081.3_Missense_Mutation_p.E210G|RARA_ENST00000425707.3_Missense_Mutation_p.E118G|RARA_ENST00000394086.3_Missense_Mutation_p.E231G|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	215	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.E215G(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AACAGCTCAGAACAACGTGTC	0.587			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																		Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	1	Substitution - Missense(1)	kidney(1)											166	144	152					17																	38508596		2203	4300	6503	SO:0001583	missense	5914			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.644A>G	17.37:g.38508596A>G	ENSP00000254066:p.Glu215Gly		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	CCDS11366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.251|8.251	0.808905|0.808905	0.16467|0.16467	.|.	.|.	ENSG00000131759|ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000420042|ENST00000319149	T;D;T;T;T|.	0.93547|.	1.37;-3.24;1.37;1.37;1.37|.	4.34|4.34	4.34|4.34	0.51931|0.51931	Nuclear hormone receptor, ligand-binding (2);|.	.|2.442480	.|0.02920	.|N	.|0.137848	T|T	0.51907|0.51907	0.1702|0.1702	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999997|0.999997	P;B;P|.	0.52842|.	0.956;0.0;0.621|.	P;B;B|.	0.53490|.	0.727;0.002;0.178|.	T|T	0.12426|0.12426	-1.0548|-1.0548	9|7	0.41790|0.33940	T|T	0.15|0.23	.|.	12.6365|12.6365	0.56687|0.56687	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	118;210;215|.	B8Y636;F1D8N9;P10276|.	.;.;RARA_HUMAN|.	G|D	215;118;215;231;210;102|209	ENSP00000254066:E215G;ENSP00000389993:E118G;ENSP00000377649:E215G;ENSP00000377648:E231G;ENSP00000377643:E210G|.	ENSP00000254066:E215G|ENSP00000316769:N209D	E|N	+|+	2|1	0|0	RARA|RARA	35762122|35762122	1.000000|1.000000	0.71417|0.71417	0.896000|0.896000	0.35187|0.35187	0.043000|0.043000	0.13939|0.13939	9.139000|9.139000	0.94554|0.94554	1.801000|1.801000	0.52704|0.52704	0.377000|0.377000	0.23210|0.23210	GAA|AAC		0.587	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			G	38508596	A	G	38508596	3	3	564	1	0	0	0	0	1	0	0	0	13058	246	9	3	829	3	RARA	17	38508596	Missense_Mutation	SNP	A	TCGA-CW-5589-01A-01D-1534-10	8187576	38508596	42686614	52	30529											
NUP85	79902	broad.mit.edu;ucsc.edu	37	17	73205917	73205918	+	Splice_Site	INS	-	-	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr17:73205917_73205918insA	ENST00000245544.4	+	3	198_199		c.e3-1		NUP85_ENST00000541827.1_Splice_Site|NUP85_ENST00000579324.1_Splice_Site|NUP85_ENST00000449421.2_Splice_Site|NUP85_ENST00000579298.1_Splice_Site|NUP85_ENST00000447371.2_Splice_Site	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TTTGGTTTCAGAAAAATCAGAG	0.351																																																0																																										SO:0001630	splice_region_variant	79902			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.128-1->A	17.37:g.73205922_73205922dupA			B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Splice_Site	INS	ENST00000245544.4	37	CCDS32730.1																																																																																				0.351	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844	Intron	A	73205918	-	A	73205917	8	5	564	1	0	1	1	0	0	0	1	0	10772	956	33	0	137	0	NUP85	17	73205917	Splice_Site	INS	-	TCGA-CW-5589-01A-01D-1534-10	34697321	73205917	7989293	53	30530											
RAB3A	5864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18309636	18309636	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr19:18309636G>C	ENST00000222256.4	-	4	549	c.371C>G	c.(370-372)tCa>tGa	p.S124*	RAB3A_ENST00000464076.3_Nonsense_Mutation_p.S29*	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	124					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.S124*(1)		NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						ATTGTCCCATGAGTAGGTCTT	0.592																																																1	Substitution - Nonsense(1)	kidney(1)											125	95	105					19																	18309636		2203	4300	6503	SO:0001587	stop_gained	5864				CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"RAB, member RAS oncogene"	9777	protein-coding gene	gene with protein product	"RAS-associated protein RAB3A"	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.371C>G	19.37:g.18309636G>C	ENSP00000222256:p.Ser124*		A8K0J4|Q9NYE1	Nonsense_Mutation	SNP	ENST00000222256.4	37	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	G	37	6.527871	0.97637	.	.	ENSG00000105649	ENST00000222256	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.6835	16.5307	0.84357	0.0:0.0:1.0:0.0	.	.	.	.	X	124	.	ENSP00000222256:S124X	S	-	2	0	RAB3A	18170636	1.000000	0.71417	0.937000	0.37676	0.982000	0.71751	9.630000	0.98420	2.492000	0.84095	0.561000	0.74099	TCA		0.592	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		C	18309636	G	C	18309636	4	2	564	1	0	0	0	0	0	1	0	0	12937	1294	45	4	299	4	RAB3A	19	18309636	Nonsense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10		18309636	40819347	54	30531											
TM6SF2	53345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19380554	19380554	+	Silent	SNP	G	G	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr19:19380554G>C	ENST00000389363.4	-	5	498	c.426C>G	c.(424-426)ctC>ctG	p.L142L	TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	142						integral component of membrane (GO:0016021)		p.L142L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CCAGCCAGTAGAGTCCAAAAT	0.542																																																1	Substitution - coding silent(1)	kidney(1)											163	171	169					19																	19380554		1940	4143	6083	SO:0001819	synonymous_variant	53345			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.426C>G	19.37:g.19380554G>C			Q0IJ64	Silent	SNP	ENST00000389363.4	37	CCDS42528.1																																																																																				0.542	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		C	19380554	G	C	19380554	2	2	564	1	0	0	0	0	0	0	0	1	15978	929	33	4		4	TM6SF2	19	19380554	Silent	SNP	G	TCGA-CW-5589-01A-01D-1534-10	1070918	19380554	39748429	55	30532											
ZNF546	339327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40519782	40519782	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr19:40519782T>C	ENST00000347077.4	+	7	821	c.605T>C	c.(604-606)aTa>aCa	p.I202T	ZNF546_ENST00000600094.1_Missense_Mutation_p.I176T|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I202T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAAAAACAAATATCTCATCCT	0.353																																																1	Substitution - Missense(1)	kidney(1)											86	84	84					19																	40519782		2203	4300	6503	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.605T>C	19.37:g.40519782T>C	ENSP00000339823:p.Ile202Thr		A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	t	0.307	-0.970352	0.02232	.	.	ENSG00000187187	ENST00000347077	T	0.06687	3.27	2.55	1.53	0.23141	.	.	.	.	.	T	0.03136	0.0092	N	0.04090	-0.28	0.09310	N	1	B;B	0.17667	0.023;0.005	B;B	0.17433	0.018;0.003	T	0.48055	-0.9068	9	0.12430	T	0.62	.	4.4285	0.11515	0.0:0.3085:0.0:0.6914	.	176;202	B3KVL3;Q86UE3	.;ZN546_HUMAN	T	202	ENSP00000339823:I202T	ENSP00000339823:I202T	I	+	2	0	ZNF546	45211622	0.000000	0.05858	0.018000	0.16275	0.043000	0.13939	-1.752000	0.01819	0.396000	0.25283	0.482000	0.46254	ATA		0.353	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		C	40519782	T	C	40519782	3	2	564	1	0	0	0	0	1	0	0	0	17983	1406	49	3	623	3	ZNF546	19	40519782	Missense_Mutation	SNP	T	TCGA-CW-5589-01A-01D-1534-10	21139228	40519782	18609201	56	30533											
PSG9	5678	hgsc.bcm.edu;ucsc.edu	37	19	43772159	43772159	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr19:43772159delT	ENST00000270077.3	-	2	303	c.207delA	c.(205-207)aaafs	p.K69fs	PSG9_ENST00000596730.1_Frame_Shift_Del_p.K69fs|PSG9_ENST00000593948.1_Frame_Shift_Del_p.K69fs|PSG9_ENST00000418820.2_Frame_Shift_Del_p.K69fs|PSG9_ENST00000443718.3_Frame_Shift_Del_p.K69fs|PSG9_ENST00000244293.7_Frame_Shift_Del_p.K69fs|PSG9_ENST00000291752.5_Frame_Shift_Del_p.K69fs	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	69	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TCATTTCCCCTTTGTACCAGA	0.413																																																0													170	170	170					19																	43772159		2203	4300	6503	SO:0001589	frameshift_variant	5678			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.207delA	19.37:g.43772159delT	ENSP00000270077:p.Lys69fs		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Frame_Shift_Del	DEL	ENST00000270077.3	37	CCDS12618.1																																																																																				0.413	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		-	43772159	T	-	43772159	7	5	564	1	0	1	0	1	0	0	0	0	12667	1606	56	0	1093	0	PSG9	19	43772159	Frame_Shift_Del	DEL	T	TCGA-CW-5589-01A-01D-1534-10	3252377	43772159	15356824	57	30534											
NLRP9	338321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56243618	56243618	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr19:56243618G>A	ENST00000332836.2	-	2	1606	c.1579C>T	c.(1579-1581)Ctt>Ttt	p.L527F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	527						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L527F(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAACTTTCAAGGCATTGGGTT	0.383																																																1	Substitution - Missense(1)	kidney(1)											65	66	66					19																	56243618		2203	4300	6503	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1579C>T	19.37:g.56243618G>A	ENSP00000331857:p.Leu527Phe		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	8.006	0.756490	0.15846	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.75367	-0.93	2.37	0.0363	0.14191	.	.	.	.	.	T	0.75982	0.3924	M	0.82716	2.605	0.09310	N	1	D	0.54964	0.969	P	0.46975	0.533	T	0.65965	-0.6040	9	0.46703	T	0.11	.	8.054	0.30593	0.0:0.5026:0.4974:0.0	.	527	Q7RTR0	NALP9_HUMAN	F	527	ENSP00000331857:L527F	ENSP00000331857:L527F	L	-	1	0	NLRP9	60935430	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.464000	0.06688	0.107000	0.17824	0.644000	0.83932	CTT		0.383	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		A	56243618	G	A	56243618	3	1	564	1	0	0	0	0	1	0	0	0	10486	1000	35	2	1428	2	NLRP9	19	56243618	Missense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10	12471459	56243618	2885365	58	30535											
ZHX3	23051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39831405	39831405	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr20:39831405C>T	ENST00000309060.3	-	4	2567	c.2152G>A	c.(2152-2154)Gca>Aca	p.A718T	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.A718T|ZHX3_ENST00000540170.1_Missense_Mutation_p.A718T|ZHX3_ENST00000559234.1_Missense_Mutation_p.A718T|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A718T|ZHX3_ENST00000560361.1_Missense_Mutation_p.A718T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	718					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A718T(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTGCGCTCTGCCAAGATATGG	0.547																																																1	Substitution - Missense(1)	kidney(1)											80	79	80					20																	39831405		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2152G>A	20.37:g.39831405C>T	ENSP00000312222:p.Ala718Thr		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.635|5.635	0.301905|0.301905	0.10678|0.10678	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262|ENST00000421422	T;T;T|.	0.11930|.	2.95;2.95;2.73|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.366620|.	0.28062|.	N|.	0.016758|.	T|T	0.54415|0.54415	0.1857|0.1857	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	0.999999|0.999999	P;P;B|.	0.43094|.	0.799;0.651;0.049|.	B;B;B|.	0.33339|.	0.162;0.058;0.029|.	T|T	0.50874|0.50874	-0.8776|-0.8776	10|5	0.26408|.	T|.	0.33|.	-16.6036|-16.6036	13.7909|13.7909	0.63140|0.63140	0.0:0.9305:0.0:0.0695|0.0:0.9305:0.0:0.0695	.|.	718;718;718|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	T|D	718;718;718;718;496|426	ENSP00000362360:A718T;ENSP00000442290:A718T;ENSP00000443783:A718T|.	ENSP00000312222:A718T|.	A|G	-|-	1|2	0|0	ZHX3|ZHX3	39264819|39264819	0.003000|0.003000	0.15002|0.15002	0.459000|0.459000	0.27081|0.27081	0.367000|0.367000	0.29736|0.29736	1.235000|1.235000	0.32671|0.32671	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.547	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		T	39831405	C	T	39831405	3	4	564	1	0	0	0	0	1	0	0	0	17682	739	26	2	726	2	ZHX3	20	39831405	Missense_Mutation	SNP	C	TCGA-CW-5589-01A-01D-1534-10		39831405	23194115	59	30536											
C20orf85	128602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	56728656	56728656	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr20:56728656G>A	ENST00000371168.3	+	2	186	c.125G>A	c.(124-126)gGg>gAg	p.G42E		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	42								p.G42E(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CAGAACTGGGGGTTTTTAACA	0.423																																																1	Substitution - Missense(1)	kidney(1)											70	75	73					20																	56728656		2203	4300	6503	SO:0001583	missense	128602			AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"Low in Lung Cancer 1"						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.125G>A	20.37:g.56728656G>A	ENSP00000360210:p.Gly42Glu			Missense_Mutation	SNP	ENST00000371168.3	37	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560392	0.86335	.	.	ENSG00000124237	ENST00000371168	T	0.34859	1.34	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.65302	0.2678	M	0.83483	2.645	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.68469	-0.5400	10	0.72032	D	0.01	-14.4909	17.8731	0.88816	0.0:0.0:1.0:0.0	.	42	Q9H1P6	CT085_HUMAN	E	42	ENSP00000360210:G42E	ENSP00000360210:G42E	G	+	2	0	C20orf85	56162062	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	5.456000	0.66665	2.760000	0.94817	0.655000	0.94253	GGG		0.423	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		A	56728656	G	A	56728656	3	1	564	1	0	0	0	0	1	0	0	0	2122	1232	43	2	131	2	C20orf85	20	56728656	Missense_Mutation	SNP	G	TCGA-CW-5589-01A-01D-1534-10	16897251	56728656	6296864	60	30537											
BRWD1	54014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	40568354	40568354	+	Intron	SNP	C	C	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr21:40568354C>A	ENST00000333229.2	-	41	6899				BRWD1_ENST00000380800.3_Intron|BRWD1_ENST00000342449.3_Missense_Mutation_p.S2214I	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1						cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S2214I(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATCATCCACACTTAACCTAGG	0.368																																					Melanoma(170;988 1986 4794 16843 39731)											1	Substitution - Missense(1)	kidney(1)											169	153	159					21																	40568354		2203	4300	6503	SO:0001627	intron_variant	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6571+69G>T	21.37:g.40568354C>A			C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.167914	0.21621	.	.	ENSG00000185658	ENST00000342449	T	0.55588	0.51	5.53	-5.74	0.02391	.	.	.	.	.	T	0.41949	0.1181	.	.	.	0.09310	N	0.999996	B	0.32526	0.374	B	0.38616	0.277	T	0.45673	-0.9245	8	0.37606	T	0.19	.	11.1636	0.48531	0.0:0.5655:0.0959:0.3386	.	2214	Q9NSI6-2	.	I	2214	ENSP00000344333:S2214I	ENSP00000344333:S2214I	S	-	2	0	BRWD1	39490224	0.000000	0.05858	0.190000	0.23270	0.996000	0.88848	-0.837000	0.04377	-1.075000	0.03129	-0.136000	0.14681	AGT		0.368	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		A	40568354	C	A	40568354	1	1	564	0	1	0	0	0	0	0	0	0	1527	565	20	4		4	BRWD1	21	40568354	Intron	SNP	C	TCGA-CW-5589-01A-01D-1534-10		40568354	7561541	61	30538											
CYB5R3	1727	broad.mit.edu;hgsc.bcm.edu	37	22	43024289	43024289	+	Splice_Site	SNP	T	T	A	rs373889804		TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chr22:43024289T>A	ENST00000352397.5	-	5	586		c.e5-2		CYB5R3_ENST00000407623.3_Splice_Site|CYB5R3_ENST00000407332.1_Splice_Site|CYB5R3_ENST00000396303.3_Splice_Site|CYB5R3_ENST00000361740.4_Splice_Site|CYB5R3_ENST00000402438.1_Splice_Site	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3						blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)	p.?(2)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	GAAGTAAACCTGCAAGACACC	0.582																																																2	Unknown(2)	kidney(2)	GRCh37	CS013087	CYB5R3	S							109	108	108					22																	43024289		2203	4300	6503	SO:0001630	splice_region_variant	1727			M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"diaphorase (NADH) (cytochrome b-5 reductase)"	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.334-2A>T	22.37:g.43024289T>A			B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Splice_Site	SNP	ENST00000352397.5	37	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.790361	0.70337	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	.	.	.	3.56	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9571	0.52986	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYB5R3	41354233	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.462000	0.80851	1.866000	0.54105	0.454000	0.30748	.		0.582	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1		Intron	A	43024289	T	A	43024289	5	1	564	1	0	0	0	0	0	0	1	0	4130	1594	55	5	593	5	CYB5R3	22	43024289	Splice_Site	SNP	T	TCGA-CW-5589-01A-01D-1534-10		43024289	8280277	62	30539											
POU3F4	5456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	82763423	82763423	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chrX:82763423T>C	ENST00000373200.2	+	1	155	c.91T>C	c.(91-93)Ttc>Ctc	p.F31L	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	31					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F31L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GGGGAGTCCTTTCCGCAACCC	0.587																																																1	Substitution - Missense(1)	kidney(1)											56	41	46					X																	82763423		2203	4300	6503	SO:0001583	missense	5456			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.91T>C	X.37:g.82763423T>C	ENSP00000362296:p.Phe31Leu		B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438118	0.25900	.	.	ENSG00000196767	ENST00000373200	D	0.85702	-2.02	4.46	4.46	0.54185	.	0.066400	0.64402	D	0.000008	T	0.78679	0.4321	L	0.36672	1.1	0.39194	D	0.963012	B	0.18610	0.029	B	0.18263	0.021	T	0.77054	-0.2730	10	0.52906	T	0.07	.	12.0363	0.53427	0.0:0.0:0.0:1.0	.	31	P49335	PO3F4_HUMAN	L	31	ENSP00000362296:F31L	ENSP00000362296:F31L	F	+	1	0	POU3F4	82650079	1.000000	0.71417	0.998000	0.56505	0.291000	0.27294	5.131000	0.64751	1.753000	0.51906	0.483000	0.47432	TTC		0.587	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		C	82763423	T	C	82763423	3	2	564	1	0	0	0	0	1	0	0	0	12279	1841	64	3	93	3	POU3F4	23	82763423	Missense_Mutation	SNP	T	TCGA-CW-5589-01A-01D-1534-10		82763423	72507137	63	30540											
ARMCX3	51566	broad.mit.edu;hgsc.bcm.edu	37	X	100880895	100880895	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5589-01A-01D-1534-10	TCGA-CW-5589-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1b353345-c75f-45fa-a2e3-86782b868abc	f3decfca-d5a9-49b9-8a45-98a8f305dd77	g.chrX:100880895T>A	ENST00000341189.4	+	5	1792	c.926T>A	c.(925-927)tTt>tAt	p.F309Y	ARMCX3_ENST00000471229.2_Missense_Mutation_p.F309Y|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000537169.1_Missense_Mutation_p.F309Y|RP4-545K15.5_ENST00000564612.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	309					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)		p.F309Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						CTGGTCATATTTGAGAACATA	0.353																																																1	Substitution - Missense(1)	kidney(1)											41	42	42					X																	100880895		2198	4290	6488	SO:0001583	missense	51566			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.926T>A	X.37:g.100880895T>A	ENSP00000340672:p.Phe309Tyr		Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	ENST00000341189.4	37	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.918895	0.52546	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.53206	0.63;0.63	4.43	4.43	0.53597	Armadillo-like helical (1);Armadillo-type fold (1);	0.276789	0.39274	N	0.001401	T	0.64125	0.2570	M	0.73962	2.25	0.25993	N	0.982229	D	0.76494	0.999	D	0.72982	0.979	T	0.57207	-0.7851	9	.	.	.	-10.5591	9.0529	0.36387	0.0:0.0:0.0:1.0	.	309	Q9UH62	ARMX3_HUMAN	Y	309	ENSP00000340672:F309Y;ENSP00000439032:F309Y	.	F	+	2	0	ARMCX3	100767551	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	2.479000	0.45197	1.960000	0.56953	0.486000	0.48141	TTT		0.353	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		A	100880895	T	A	100880895	3	1	564	1	0	0	0	0	1	0	0	0	961	1841	64	5	928	5	ARMCX3	23	100880895	Missense_Mutation	SNP	T	TCGA-CW-5589-01A-01D-1534-10	18117472	100880895	54389665	64	30541											
USP24	23358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	55638068	55638068	+	Silent	SNP	G	G	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr1:55638068G>A	ENST00000294383.6	-	4	683	c.684C>T	c.(682-684)ctC>ctT	p.L228L	USP24_ENST00000407756.1_Silent_p.L116L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	228					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.L228L(1)|p.L197L(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCACACCCAGGAGACCAGTGG	0.338																																																2	Substitution - coding silent(2)	kidney(2)											97	89	91					1																	55638068		1833	4090	5923	SO:0001819	synonymous_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.684C>T	1.37:g.55638068G>A			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	CCDS44154.2																																																																																				0.338	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			A	55638068	G	A	55638068	2	1	565	1	0	0	0	0	0	0	0	1	17060	1161	41	2		2	USP24	1	55638068	Silent	SNP	G	TCGA-CW-5591-01A-01D-1534-10		55638068	193612553	1	30542											
USP24	23358	broad.mit.edu;hgsc.bcm.edu	37	1	55642117	55642117	+	Splice_Site	SNP	C	C	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr1:55642117C>A	ENST00000294383.6	-	3	490		c.e3-1		USP24_ENST00000407756.1_Splice_Site	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.?(2)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TCGGAAAGACCTTAGTAAAAT	0.323																																																2	Unknown(2)	kidney(2)											63	58	59					1																	55642117		1818	4082	5900	SO:0001630	splice_region_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.491-1G>T	1.37:g.55642117C>A			Q6ZSY2|Q8N2Y4|Q9NXD1	Splice_Site	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480769	0.84747	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4464	0.94849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP24	55414705	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.950000	0.75977	2.827000	0.97445	0.655000	0.94253	.		0.323	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		Intron	A	55642117	C	A	55642117	5	1	565	1	0	0	0	0	0	0	1	0	17060	695	24	4	7636	4	USP24	1	55642117	Splice_Site	SNP	C	TCGA-CW-5591-01A-01D-1534-10	4049	55642117	193608504	2	30543											
TARBP1	6894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234541769	234541769	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr1:234541769G>A	ENST00000040877.1	-	24	3868	c.3869C>T	c.(3868-3870)gCt>gTt	p.A1290V	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1290					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.A1290V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGCAACTAAAGCATACAGTCG	0.393																																																1	Substitution - Missense(1)	kidney(1)											137	129	131					1																	234541769		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3869C>T	1.37:g.234541769G>A	ENSP00000040877:p.Ala1290Val		Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549636	0.86127	.	.	ENSG00000059588	ENST00000040877	T	0.33654	1.4	4.67	4.67	0.58626	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.69150	-0.5221	10	0.87932	D	0	-12.5207	17.5352	0.87829	0.0:0.0:1.0:0.0	.	1290	Q13395	TARB1_HUMAN	V	1290	ENSP00000040877:A1290V	ENSP00000040877:A1290V	A	-	2	0	TARBP1	232608392	1.000000	0.71417	0.804000	0.32291	0.889000	0.51656	8.186000	0.89706	2.137000	0.66172	0.462000	0.41574	GCT		0.393	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		A	234541769	G	A	234541769	3	1	565	1	0	0	0	0	1	0	0	0	15560	971	34	2	1024	2	TARBP1	1	234541769	Missense_Mutation	SNP	G	TCGA-CW-5591-01A-01D-1534-10	178899652	234541769	14708852	3	30544											
ZSWIM2	151112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	187693068	187693068	+	Silent	SNP	A	A	C			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr2:187693068A>C	ENST00000295131.2	-	9	1584	c.1545T>G	c.(1543-1545)ccT>ccG	p.P515P		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	515					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P515P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GAACAATAGGAGGAAGCAGTG	0.383																																																1	Substitution - coding silent(1)	kidney(1)											67	65	65					2																	187693068		2203	4300	6503	SO:0001819	synonymous_variant	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1545T>G	2.37:g.187693068A>C			B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	ENST00000295131.2	37	CCDS33348.1																																																																																				0.383	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		C	187693068	A	C	187693068	2	2	565	1	0	0	0	0	0	0	0	1	18246	291	11	5		5	ZSWIM2	2	187693068	Silent	SNP	A	TCGA-CW-5591-01A-01D-1534-10		187693068	55506305	4	30545											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191590	10191590	+	Nonsense_Mutation	SNP	C	C	T	rs5030825		TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr3:10191590C>T	ENST00000256474.2	+	3	1423	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	VHL_ENST00000345392.2_Nonsense_Mutation_p.Q154*|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	195					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q195*(5)|p.P192fs*3(1)|p.N193fs*>16(1)|p.Q195fs*20(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCAAATGTGCAGAAAGACCT	0.498		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Substitution - Nonsense(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	kidney(8)	GRCh37	CI951988|CM941391	VHL	I|M	rs5030825						73	66	68					3																	10191590		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.583C>T	3.37:g.10191590C>T	ENSP00000256474:p.Gln195*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287576	0.59976	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.97	0.468	0.16732	.	1.095100	0.06783	N	0.785583	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-3.7004	5.1954	0.15233	0.1872:0.608:0.104:0.1007	rs5030825	.	.	.	X	195;154;113	.	ENSP00000256474:Q195X	Q	+	1	0	VHL	10166590	0.000000	0.05858	0.261000	0.24466	0.989000	0.77384	-0.569000	0.05902	0.264000	0.21851	0.655000	0.94253	CAG		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191590	C	T	10191590	4	4	565	1	0	0	0	0	0	1	0	0	17167	711	25	2	593	2	VHL	3	10191590	Nonsense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10		10191590	187830840	5	30546											
NKTR	4820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	42679500	42679500	+	Silent	SNP	T	T	G			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr3:42679500T>G	ENST00000232978.8	+	13	2492	c.2304T>G	c.(2302-2304)gtT>gtG	p.V768V	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	768	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.V768V(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAAATAGCGTTTCACATAAAA	0.393																																																1	Substitution - coding silent(1)	kidney(1)											88	89	89					3																	42679500		2203	4300	6503	SO:0001819	synonymous_variant	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2304T>G	3.37:g.42679500T>G				Silent	SNP	ENST00000232978.8	37	CCDS2702.1																																																																																				0.393	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		G	42679500	T	G	42679500	2	3	565	1	0	0	0	0	0	0	0	1	10450	1828	64	5		5	NKTR	3	42679500	Silent	SNP	T	TCGA-CW-5591-01A-01D-1534-10	32487910	42679500	155342930	6	30547											
ZNF445	353274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	44489465	44489465	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr3:44489465C>A	ENST00000396077.2	-	8	2045	c.1698G>T	c.(1696-1698)aaG>aaT	p.K566N	ZNF445_ENST00000425708.2_Missense_Mutation_p.K566N	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	566					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K566N(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CAAGAAATTTCTTCTTAGCAT	0.448																																																1	Substitution - Missense(1)	kidney(1)											99	102	101					3																	44489465		2203	4300	6503	SO:0001583	missense	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1698G>T	3.37:g.44489465C>A	ENSP00000379387:p.Lys566Asn		Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189146	0.38707	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.60672	0.17;0.17	3.61	3.61	0.41365	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.693106	0.12905	N	0.429401	T	0.49115	0.1538	L	0.46614	1.455	0.28696	N	0.904335	B;B	0.33694	0.281;0.421	B;B	0.24848	0.056;0.056	T	0.54807	-0.8238	10	0.87932	D	0	.	13.5594	0.61779	0.0:1.0:0.0:0.0	.	554;566	B7ZKX2;P59923	.;ZN445_HUMAN	N	566	ENSP00000413073:K566N;ENSP00000379387:K566N	ENSP00000379387:K566N	K	-	3	2	ZNF445	44464469	0.502000	0.26107	0.242000	0.24170	0.860000	0.49131	3.273000	0.51623	2.325000	0.78763	0.591000	0.81541	AAG		0.448	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		A	44489465	C	A	44489465	3	1	565	1	0	0	0	0	1	0	0	0	17923	912	32	4	1401	4	ZNF445	3	44489465	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10	1809965	44489465	153532965	7	30548											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47143043	47143043	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr3:47143043C>A	ENST00000409792.3	-	8	4962	c.4920G>T	c.(4918-4920)tgG>tgT	p.W1640C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1640	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.W1137C(1)|p.W1640C(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CGTTCACAGTCCACTGAGATG	0.408			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											116	114	115					3																	47143043		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4920G>T	3.37:g.47143043C>A	ENSP00000386759:p.Trp1640Cys		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631464	0.87660	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.80824	-1.42	5.85	5.85	0.93711	SET domain (3);	0.000000	0.50627	D	0.000110	D	0.92427	0.7596	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93227	0.6614	10	0.87932	D	0	.	20.1576	0.98120	0.0:1.0:0.0:0.0	.	1640;1640	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	1640	ENSP00000386759:W1640C	ENSP00000386759:W1640C	W	-	3	0	SETD2	47118047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.735000	0.84939	2.773000	0.95371	0.650000	0.86243	TGG		0.408	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47143043	C	A	47143043	3	1	565	1	0	0	0	0	1	0	0	0	14137	856	30	4	2830	4	SETD2	3	47143043	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10	2653578	47143043	150879387	8	30549											
RAP2B	5912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	152880567	152880567	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr3:152880567A>G	ENST00000323534.2	+	1	539	c.85A>G	c.(85-87)Atc>Gtc	p.I29V	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	29					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.I29V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGGCTCCTTCATCGAGAAGTA	0.622																																																1	Substitution - Missense(1)	kidney(1)											75	74	74					3																	152880567		2203	4300	6503	SO:0001583	missense	5912				CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"Ras-related protein RAP-2B", "small GTP binding protein", "Ras family small GTP binding protein RAP2B"	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.85A>G	3.37:g.152880567A>G	ENSP00000319096:p.Ile29Val		P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	A	6.962	0.547352	0.13312	.	.	ENSG00000181467	ENST00000323534	T	0.75821	-0.97	4.61	4.61	0.57282	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.48714	0.1515	N	0.04805	-0.155	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.48681	-0.9014	10	0.02654	T	1	.	12.0014	0.53232	1.0:0.0:0.0:0.0	.	29	P61225	RAP2B_HUMAN	V	29	ENSP00000319096:I29V	ENSP00000319096:I29V	I	+	1	0	RAP2B	154363257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.048000	0.76606	1.917000	0.55516	0.460000	0.39030	ATC		0.622	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		G	152880567	A	G	152880567	3	3	565	1	0	0	0	0	1	0	0	0	13047	217	8	3	87	3	RAP2B	3	152880567	Missense_Mutation	SNP	A	TCGA-CW-5591-01A-01D-1534-10	105737524	152880567	45141863	9	30550											
RNF4	6047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2498774	2498774	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr4:2498774A>C	ENST00000511600.1	+	3	1565	c.50A>C	c.(49-51)cAg>cCg	p.Q17P	RNF4_ENST00000511843.1_3'UTR|RNF4_ENST00000511859.1_Missense_Mutation_p.Q17P|RNF4_ENST00000506706.1_Missense_Mutation_p.Q17P|RNF4_ENST00000509258.1_Missense_Mutation_p.Q17P|RNF4_ENST00000541204.1_Missense_Mutation_p.Q17P|RNF4_ENST00000314289.8_Missense_Mutation_p.Q17P			P78317	RNF4_HUMAN	ring finger protein 4	17	Mediates interaction with TRPS1. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q51P(1)		endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				AGACAAGCTCAGAAGCGAACT	0.498																																																1	Substitution - Missense(1)	kidney(1)											52	52	52					4																	2498774		1890	4116	6006	SO:0001583	missense	6047			U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"RING-type (C3HC4) zinc fingers"	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.50A>C	4.37:g.2498774A>C	ENSP00000426503:p.Gln17Pro		B2R6D6|D6RF58|Q49AR8	Missense_Mutation	SNP	ENST00000511600.1	37	CCDS47001.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994815	0.74703	.	.	ENSG00000063978	ENST00000504224;ENST00000314289;ENST00000536449;ENST00000541204;ENST00000502316;ENST00000507247;ENST00000509258;ENST00000511859;ENST00000506706;ENST00000511600;ENST00000513450	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.7	5.7	0.88788	.	0.204969	0.43579	D	0.000541	T	0.60818	0.2298	M	0.65975	2.015	0.38750	D	0.954081	D;D;P	0.63880	0.993;0.986;0.883	P;P;P	0.58520	0.84;0.738;0.462	T	0.65038	-0.6265	9	.	.	.	-35.1613	12.3567	0.55180	1.0:0.0:0.0:0.0	.	17;17;17	D6RF58;D6RBZ1;P78317	.;.;RNF4_HUMAN	P	17	ENSP00000315212:Q17P;ENSP00000446369:Q17P;ENSP00000423100:Q17P;ENSP00000424076:Q17P;ENSP00000426503:Q17P	.	Q	+	2	0	RNF4	2468572	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	2.224000	0.42945	2.178000	0.69098	0.459000	0.35465	CAG		0.498	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360920.1	NM_002938		C	2498774	A	C	2498774	3	2	565	1	0	0	0	0	1	0	0	0	13498	188	7	5	56	5	RNF4	4	2498774	Missense_Mutation	SNP	A	TCGA-CW-5591-01A-01D-1534-10		2498774	188655502	10	30551											
MMRN1	22915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	90874205	90874205	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr4:90874205C>T	ENST00000394980.1	+	9	3642	c.3323C>T	c.(3322-3324)aCg>aTg	p.T1108M	MMRN1_ENST00000264790.2_Missense_Mutation_p.T1108M|MMRN1_ENST00000508372.1_Missense_Mutation_p.T850M|MMRN1_ENST00000394981.1_Missense_Mutation_p.T411M			Q13201	MMRN1_HUMAN	multimerin 1	1108	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.T1108M(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GCATCTCATACGTATGGAATG	0.348																																																1	Substitution - Missense(1)	kidney(1)											110	114	112					4																	90874205		2203	4300	6503	SO:0001583	missense	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3323C>T	4.37:g.90874205C>T	ENSP00000378431:p.Thr1108Met		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.991200	0.54041	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	4.73	3.86	0.44501	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.104770	0.42548	D	0.000684	D	0.92176	0.7519	M	0.72118	2.19	0.27368	N	0.955765	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	D	0.86547	0.1832	10	0.87932	D	0	.	13.1994	0.59758	0.1598:0.8402:0.0:0.0	.	411;1108	Q13201-2;Q13201	.;MMRN1_HUMAN	M	1108;1108;411;850	ENSP00000378431:T1108M;ENSP00000264790:T1108M;ENSP00000378432:T411M;ENSP00000426461:T850M	ENSP00000264790:T1108M	T	+	2	0	MMRN1	91093228	0.970000	0.33590	0.127000	0.21898	0.916000	0.54674	2.504000	0.45416	1.266000	0.44231	0.484000	0.47621	ACG		0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		T	90874205	C	T	90874205	3	4	565	1	0	0	0	0	1	0	0	0	9672	536	19	1	3353	1	MMRN1	4	90874205	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10	88375431	90874205	100280071	11	30552											
PRSS48	345062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	152212274	152212274	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr4:152212274A>G	ENST00000455694.2	+	5	658	c.656A>G	c.(655-657)gAt>gGt	p.D219G	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.D76G	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	219	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.D228G(1)|p.D219G(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CCTTAGGGTGATTCTGGAGGG	0.433																																																2	Substitution - Missense(2)	kidney(2)											101	91	94					4																	152212274		1880	4115	5995	SO:0001583	missense	345062			BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"Serine peptidases / Serine peptidases"	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.656A>G	4.37:g.152212274A>G	ENSP00000401328:p.Asp219Gly		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	CCDS47145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.98|16.98	3.272045|3.272045	0.59649|0.59649	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000455694;ENST00000441586|ENST00000530477	D;D|.	0.95482|.	-3.72;-3.72|.	4.09|4.09	4.09|4.09	0.47781|0.47781	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.37219|.	N|.	0.002199|.	D|D	0.86822|0.86822	0.6025|0.6025	H|H	0.97829|0.97829	4.085|4.085	0.44454|0.44454	D|D	0.99738|0.99738	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.994|.	D|D	0.89504|0.89504	0.3766|0.3766	10|5	0.87932|.	D|.	0|.	.|.	9.7561|9.7561	0.40504|0.40504	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	76;219|.	Q7RTY5-3;Q7RTY5|.	.;PRS48_HUMAN|.	G|V	219;76|198	ENSP00000401328:D219G;ENSP00000401420:D76G|.	ENSP00000401420:D76G|.	D|I	+|+	2|1	0|0	PRSS48|PRSS48	152431724|152431724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	3.618000|3.618000	0.54188|0.54188	2.088000|2.088000	0.63022|0.63022	0.260000|0.260000	0.18958|0.18958	GAT|ATT		0.433	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		G	152212274	A	G	152212274	3	3	565	1	0	0	0	0	1	0	0	0	12635	333	12	3	674	3	PRSS48	4	152212274	Missense_Mutation	SNP	A	TCGA-CW-5591-01A-01D-1534-10	61338069	152212274	38942002	12	30553											
RAPGEF2	9693	broad.mit.edu	37	4	160275198	160275198	+	Splice_Site	DEL	G	G	-			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr4:160275198delG	ENST00000264431.4	+	22	4587	c.4168delG	c.(4168-4170)gca>ca	p.A1390fs		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1390					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGGGCTCATTGGTAAGTTTTA	0.413																																																0													33	33	33					4																	160275198		1759	3904	5663	SO:0001630	splice_region_variant	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4168+1G>-	4.37:g.160275198delG			D3DP27	Frame_Shift_Del	DEL	ENST00000264431.4	37	CCDS43277.1																																																																																				0.413	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	Frame_Shift_Del	-	160275198	G	-	160275198	8	5	565	1	0	1	0	1	0	0	1	0	13050	1362	47	0	4254	0	RAPGEF2	4	160275198	Splice_Site	DEL	G	TCGA-CW-5591-01A-01D-1534-10	8062924	160275198	30879078	13	30554											
LRRC14B	389257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	194972	194972	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr5:194972C>G	ENST00000328278.3	+	2	1077	c.1049C>G	c.(1048-1050)aCc>aGc	p.T350S	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	350								p.T362S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TACCCCTCGACCTTCTTCAGG	0.617																																																1	Substitution - Missense(1)	kidney(1)											29	33	31					5																	194972		2115	4231	6346	SO:0001583	missense	389257				CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1049C>G	5.37:g.194972C>G	ENSP00000327675:p.Thr350Ser			Missense_Mutation	SNP	ENST00000328278.3	37	CCDS47184.1	.	.	.	.	.	.	.	.	.	.	C	0.553	-0.848646	0.02651	.	.	ENSG00000185028	ENST00000328278	T	0.10382	2.88	5.65	3.81	0.43845	.	0.392242	0.29924	N	0.010858	T	0.09069	0.0224	L	0.35288	1.05	0.31018	N	0.718515	B	0.23806	0.091	B	0.17433	0.018	T	0.09015	-1.0694	10	0.19590	T	0.45	.	14.1283	0.65235	0.0:0.7133:0.2867:0.0	.	350	A6NHZ5	LR14B_HUMAN	S	350	ENSP00000327675:T350S	ENSP00000327675:T350S	T	+	2	0	LRRC14B	247972	0.476000	0.25901	0.714000	0.30535	0.088000	0.18126	1.879000	0.39618	0.696000	0.31696	0.561000	0.74099	ACC		0.617	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		G	194972	C	G	194972	3	3	565	1	0	0	0	0	1	0	0	0	8971	507	18	4	1055	4	LRRC14B	5	194972	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10		194972	180720288	14	30555											
HSPA4	3308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132424155	132424155	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr5:132424155G>T	ENST00000304858.2	+	9	1334	c.1045G>T	c.(1045-1047)Gcg>Tcg	p.A349S	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	349					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.A349S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACGAATCCCTGCGGTAAAAGA	0.348																																					Colon(114;1299 1588 6063 12302 48757)											1	Substitution - Missense(1)	kidney(1)											110	99	103					5																	132424155		2203	4300	6503	SO:0001583	missense	3308			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1045G>T	5.37:g.132424155G>T	ENSP00000302961:p.Ala349Ser		O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.350996	0.61183	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.01068	5.38	6.02	5.15	0.70609	Heat shock protein 70, conserved site (1);	0.045848	0.85682	D	0.000000	T	0.02012	0.0063	L	0.55990	1.75	0.80722	D	1	B	0.22746	0.074	B	0.20955	0.032	T	0.56080	-0.8038	10	0.39692	T	0.17	-16.5811	15.1588	0.72764	0.0672:0.0:0.9328:0.0	.	349	P34932	HSP74_HUMAN	S	349	ENSP00000302961:A349S	ENSP00000302961:A349S	A	+	1	0	HSPA4	132452054	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.585000	0.82584	1.554000	0.49487	0.650000	0.86243	GCG		0.348	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		T	132424155	G	T	132424155	3	4	565	1	0	0	0	0	1	0	0	0	7414	1319	46	4	1079	4	HSPA4	5	132424155	Missense_Mutation	SNP	G	TCGA-CW-5591-01A-01D-1534-10	132229183	132424155	48491105	15	30556											
ABCC10	89845	broad.mit.edu	37	6	43417778	43417778	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr6:43417778G>C	ENST00000372530.4	+	22	4643	c.4428G>C	c.(4426-4428)caG>caC	p.Q1476H	ABCC10_ENST00000244533.3_Missense_Mutation_p.Q1448H	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1476	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Q1448H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGTTCCAGCAGCTGCTGCAGA	0.652																																																1	Substitution - Missense(1)	kidney(1)											53	60	57					6																	43417778		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4428G>C	6.37:g.43417778G>C	ENSP00000361608:p.Gln1476His		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726274	0.48833	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394;ENST00000505344	D;D;D	0.90620	-2.7;-2.7;-2.7	5.5	5.5	0.81552	ABC transporter-like (1);	0.260017	0.31347	N	0.007820	T	0.68155	0.2970	N	0.10707	0.03	0.39623	D	0.970053	B;B	0.11235	0.004;0.003	B;B	0.12156	0.007;0.003	T	0.65685	-0.6108	10	0.27785	T	0.31	-37.751	8.4381	0.32799	0.0825:0.2058:0.7117:0.0	.	1448;1476	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	H	1476;1448;232;113	ENSP00000361608:Q1476H;ENSP00000244533:Q1448H;ENSP00000422699:Q113H	ENSP00000244533:Q1448H	Q	+	3	2	ABCC10	43525756	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.051000	0.41307	2.590000	0.87494	0.555000	0.69702	CAG		0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		C	43417778	G	C	43417778	3	2	565	1	0	0	0	0	1	0	0	0	50	962	34	4	4422	4	ABCC10	6	43417778	Missense_Mutation	SNP	G	TCGA-CW-5591-01A-01D-1534-10		43417778	127697289	16	30557											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56357868	56357868	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr6:56357868A>T	ENST00000361203.3	-	79	19461	c.19454T>A	c.(19453-19455)cTc>cAc	p.L6485H	DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.L4182H|DST_ENST00000446842.2_Missense_Mutation_p.L6270H|DST_ENST00000370769.4_Missense_Mutation_p.L6596H|DST_ENST00000421834.2_Missense_Mutation_p.L4508H|DST_ENST00000370754.5_Missense_Mutation_p.L6774H|DST_ENST00000340834.4_5'Flank|DST_ENST00000370788.2_Missense_Mutation_p.L4399H			Q03001	DYST_HUMAN	dystonin	6485					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L6596H(1)|p.L4182H(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCCAAGTTGAGAGCCTCTTC	0.423																																																2	Substitution - Missense(2)	kidney(2)											104	99	100					6																	56357868		1881	4132	6013	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19454T>A	6.37:g.56357868A>T	ENSP00000354508:p.Leu6485His		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	19.01	3.744015	0.69418	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.53	5.53	0.82687	.	0.000000	0.44483	D	0.000451	T	0.60261	0.2255	M	0.81341	2.54	0.33936	D	0.642654	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.972;0.993	T	0.66060	-0.6017	9	0.56958	D	0.05	.	15.9613	0.79933	1.0:0.0:0.0:0.0	.	4508;6596;6774;6594;4182	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	4182;6774;6596;4508;6270;4399;6485	ENSP00000244364:L4182H;ENSP00000359790:L6774H;ENSP00000359805:L6596H;ENSP00000400883:L4508H;ENSP00000393645:L6270H;ENSP00000359824:L4399H;ENSP00000354508:L6485H	ENSP00000244364:L4182H	L	-	2	0	DST	56465827	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.195000	0.94971	2.240000	0.73641	0.477000	0.44152	CTC		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		T	56357868	A	T	56357868	3	4	565	1	0	0	0	0	1	0	0	0	4785	304	11	5	3050	5	DST	6	56357868	Missense_Mutation	SNP	A	TCGA-CW-5591-01A-01D-1534-10	12940090	56357868	114757199	17	30558											
CACNA2D1	781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	81635088	81635088	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr7:81635088C>A	ENST00000356253.5	-	17	1763	c.1508G>T	c.(1507-1509)cGt>cTt	p.R503L	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.R503L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	503	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R503L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TACTGTAAAACGTGGTGTCAG	0.358																																																1	Substitution - Missense(1)	kidney(1)											126	119	121					7																	81635088		2203	4299	6502	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1508G>T	7.37:g.81635088C>A	ENSP00000348589:p.Arg503Leu		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.010026|4.010026	0.75046|0.75046	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253|ENST00000443883	T;T|.	0.07216|.	3.22;3.21|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76737|0.76737	0.4029|0.4029	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	B|.	0.16603|.	0.018|.	B|.	0.21546|.	0.035|.	T|T	0.76277|0.76277	-0.3018|-0.3018	10|5	0.62326|.	D|.	0.03|.	-11.1241|-11.1241	18.7374|18.7374	0.91761|0.91761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	503|.	P54289-2|.	.|.	L|F	503|7	ENSP00000349320:R503L;ENSP00000348589:R503L|.	ENSP00000284088:R503L|.	R|V	-|-	2|1	0|0	CACNA2D1|CACNA2D1	81473024|81473024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.461000|7.461000	0.80834|0.80834	2.523000|2.523000	0.85059|0.85059	0.591000|0.591000	0.81541|0.81541	CGT|GTT		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				A	81635088	C	A	81635088	3	1	565	1	0	0	0	0	1	0	0	0	2550	536	19	4	1859	4	CACNA2D1	7	81635088	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10		81635088	77503575	18	30559											
KIAA0020	9933	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2823805	2823805	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr9:2823805C>G	ENST00000397885.2	-	12	1370	c.1164G>C	c.(1162-1164)aaG>aaC	p.K388N		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	388	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.K388N(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CAACATAAGTCTTCATTGTTT	0.259																																																1	Substitution - Missense(1)	kidney(1)											42	38	39					9																	2823805		2178	4247	6425	SO:0001583	missense	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1164G>C	9.37:g.2823805C>G	ENSP00000380982:p.Lys388Asn		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309206	0.60414	.	.	ENSG00000080608	ENST00000397885	T	0.20738	2.05	5.68	3.38	0.38709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55860	-0.8074	10	0.87932	D	0	-23.0798	8.7756	0.34760	0.0:0.7034:0.0:0.2966	.	248;388	B2RDG4;Q15397	.;K0020_HUMAN	N	388	ENSP00000380982:K388N	ENSP00000380982:K388N	K	-	3	2	KIAA0020	2813805	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	2.290000	0.43531	0.589000	0.29677	0.650000	0.86243	AAG		0.259	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		G	2823805	C	G	2823805	3	3	565	1	0	0	0	0	1	0	0	0	8154	912	32	4	810	4	KIAA0020	9	2823805	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10		2823805	138389626	19	30560											
ZNF169	169841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	97055309	97055309	+	Missense_Mutation	SNP	C	C	G	rs532233833		TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr9:97055309C>G	ENST00000395395.2	+	4	304	c.214C>G	c.(214-216)Cct>Gct	p.P72A	ZNF169_ENST00000481550.2_Missense_Mutation_p.P72A|ZNF169_ENST00000340911.4_Missense_Mutation_p.P72A|ZNF169_ENST00000480716.1_Missense_Mutation_p.P72A|ZNF169_ENST00000375354.4_Missense_Mutation_p.P72A	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		P -> L (in dbSNP:rs1536690).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P72A(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGGCGACGAACCTTGGAGAGA	0.502																																																1	Substitution - Missense(1)	kidney(1)											95	70	79					9																	97055309		2203	4300	6503	SO:0001583	missense	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.214C>G	9.37:g.97055309C>G	ENSP00000378792:p.Pro72Ala		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	c	9.817	1.184800	0.21870	.	.	ENSG00000175787	ENST00000395395;ENST00000375354	T;T	0.10192	2.9;5.44	3.09	3.09	0.35607	Krueppel-associated box (2);	.	.	.	.	T	0.26810	0.0656	M	0.75085	2.285	0.32625	N	0.522749	D;P;D	0.61080	0.989;0.908;0.97	P;P;P	0.61070	0.883;0.54;0.527	T	0.33777	-0.9855	9	0.72032	D	0.01	.	9.8219	0.40887	0.0:1.0:0.0:0.0	.	72;72;72	Q6PIG1;Q7Z761;Q14929	.;.;ZN169_HUMAN	A	72	ENSP00000378792:P72A;ENSP00000364503:P72A	ENSP00000364503:P72A	P	+	1	0	ZNF169	96095130	0.002000	0.14202	0.945000	0.38365	0.118000	0.20060	0.461000	0.21940	1.754000	0.51921	0.543000	0.68304	CCT		0.502	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		G	97055309	C	G	97055309	3	3	565	1	0	0	0	0	1	0	0	0	17747	507	18	4	224	4	ZNF169	9	97055309	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10	94231504	97055309	44158122	20	30561											
TCF7L2	6934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	114901063	114901063	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr10:114901063G>T	ENST00000355995.4	+	6	1180	c.673G>T	c.(673-675)Gac>Tac	p.D225Y	TCF7L2_ENST00000538897.1_Missense_Mutation_p.D225Y|TCF7L2_ENST00000369397.4_Missense_Mutation_p.D202Y|TCF7L2_ENST00000369395.1_Missense_Mutation_p.D250Y|TCF7L2_ENST00000536810.1_Missense_Mutation_p.D225Y|TCF7L2_ENST00000543371.1_Missense_Mutation_p.D225Y|TCF7L2_ENST00000352065.5_Missense_Mutation_p.D202Y|TCF7L2_ENST00000545257.1_Missense_Mutation_p.D225Y|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000534894.1_Missense_Mutation_p.D225Y|TCF7L2_ENST00000349937.2_Missense_Mutation_p.D225Y|TCF7L2_ENST00000355717.4_Missense_Mutation_p.D249Y|TCF7L2_ENST00000369389.1_5'Flank			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	225	Mediates interaction with MAD2L2.|Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D202Y(1)|p.D249Y(1)|p.D225Y(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGCCGACGTAGACCCCAAAAC	0.602			T	VTI1A	colorectal																																		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	3	Substitution - Missense(3)	kidney(3)											111	94	100					10																	114901063		2203	4300	6503	SO:0001583	missense	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.673G>T	10.37:g.114901063G>T	ENSP00000348274:p.Asp225Tyr		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	g	32	5.127441	0.94473	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395;ENST00000346198	D;D;D;D;D;D;D;D;D	0.99445	-5.33;-5.33;-5.36;-5.37;-5.91;-5.86;-5.84;-5.32;-5.86	5.45	5.45	0.79879	CTNNB1 binding, N-teminal (1);	0.104686	0.64402	D	0.000007	D	0.99462	0.9809	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D	0.89917	0.999;1.0;0.973;0.997;0.999;0.997;0.999;0.999;0.999;1.0;0.999;1.0;0.946;1.0;0.966;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D	0.85130	0.992;0.992;0.951;0.99;0.986;0.981;0.99;0.987;0.979;0.992;0.992;0.996;0.864;0.997;0.923;0.994;0.993;0.987;0.996	D	0.99075	1.0835	10	0.87932	D	0	-3.143	19.2979	0.94131	0.0:0.0:1.0:0.0	.	82;42;119;225;96;144;202;202;202;168;225;202;202;202;249;202;225;202;202	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Y	225;225;225;225;249;225;225;202;225;202;250;219	ENSP00000348274:D225Y;ENSP00000440547:D225Y;ENSP00000444972:D225Y;ENSP00000446238:D225Y;ENSP00000347949:D249Y;ENSP00000446172:D225Y;ENSP00000443626:D225Y;ENSP00000358404:D202Y;ENSP00000344823:D202Y	ENSP00000345640:D219Y	D	+	1	0	TCF7L2	114891053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.559000	0.86315	0.650000	0.86243	GAC		0.602	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		T	114901063	G	T	114901063	3	4	565	1	0	0	0	0	1	0	0	0	15703	942	33	4	840	4	TCF7L2	10	114901063	Missense_Mutation	SNP	G	TCGA-CW-5591-01A-01D-1534-10		114901063	20633684	21	30562											
B3GAT1	27087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	134252621	134252621	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr11:134252621C>T	ENST00000524765.1	-	4	5445	c.901G>A	c.(901-903)Gca>Aca	p.A301T	B3GAT1_ENST00000537389.1_Missense_Mutation_p.A314T|B3GAT1_ENST00000312527.4_Missense_Mutation_p.A301T|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000392580.1_Missense_Mutation_p.A301T			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	301					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.A301T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CAGTTGGCTGCCTTGGGCTCC	0.567																																																1	Substitution - Missense(1)	kidney(1)											135	100	112					11																	134252621		2201	4297	6498	SO:0001583	missense	27087			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.901G>A	11.37:g.134252621C>T	ENSP00000433847:p.Ala301Thr		Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	36	5.891914	0.97074	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.82495	0.5049	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.85130	0.931;0.997	D	0.84634	0.0691	10	0.66056	D	0.02	-19.4294	18.2408	0.89967	0.0:1.0:0.0:0.0	.	314;301	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	T	301;301;301;314	ENSP00000376359:A301T;ENSP00000307875:A301T;ENSP00000433847:A301T;ENSP00000445983:A314T	ENSP00000307875:A301T	A	-	1	0	B3GAT1	133757831	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.651000	0.83577	2.532000	0.85374	0.491000	0.48974	GCA		0.567	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		T	134252621	C	T	134252621	3	4	565	1	0	0	0	0	1	0	0	0	1253	739	26	2	111	2	B3GAT1	11	134252621	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10		134252621	753895	22	30563											
LTBR	4055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6493822	6493822	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr12:6493822C>G	ENST00000228918.4	+	2	491	c.165C>G	c.(163-165)caC>caG	p.H55Q	LTBR_ENST00000543190.1_5'UTR|LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000541102.1_5'Flank|LTBR_ENST00000539925.1_Missense_Mutation_p.H36Q	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	55					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.H55Q(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						AGCCCCAGCACCGCATCTGCT	0.627																																																1	Substitution - Missense(1)	kidney(1)											57	61	60					12																	6493822		2203	4300	6503	SO:0001583	missense	4055			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.165C>G	12.37:g.6493822C>G	ENSP00000228918:p.His55Gln		B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418813	0.83559	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000536876	D;D;T	0.92099	-2.97;-2.97;-0.4	5.06	-3.86	0.04230	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.263091	0.31092	N	0.008261	D	0.88753	0.6522	L	0.53249	1.67	0.09310	N	0.999995	P;P;P	0.48998	0.899;0.918;0.918	P;P;P	0.52386	0.571;0.697;0.697	T	0.82452	-0.0450	10	0.14252	T	0.57	-5.9335	6.9191	0.24378	0.0:0.5735:0.1579:0.2686	.	36;36;55	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	Q	36;55;55	ENSP00000440875:H36Q;ENSP00000228918:H55Q;ENSP00000437647:H55Q	ENSP00000228918:H55Q	H	+	3	2	LTBR	6364083	0.000000	0.05858	0.000000	0.03702	0.872000	0.50106	-0.897000	0.04110	-0.568000	0.06038	0.491000	0.48974	CAC		0.627	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			G	6493822	C	G	6493822	3	3	565	1	0	0	0	0	1	0	0	0	9079	506	18	4	171	4	LTBR	12	6493822	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10		6493822	127358073	23	30564											
KRT3	3850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53188042	53188042	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr12:53188042G>A	ENST00000417996.2	-	2	793	c.719C>T	c.(718-720)tCc>tTc	p.S240F	KRT3_ENST00000309505.3_Missense_Mutation_p.S240F	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	240	Linker 1.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S240F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCTGAGATGGAACTTGTGCC	0.542																																																1	Substitution - Missense(1)	kidney(1)											138	156	150					12																	53188042		2192	4299	6491	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.719C>T	12.37:g.53188042G>A	ENSP00000413479:p.Ser240Phe		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933827	0.34096	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.79940	-1.32;-1.32	4.66	3.77	0.43336	Filament (1);	0.000000	0.46442	D	0.000299	T	0.76190	0.3953	N	0.14661	0.345	0.09310	N	1	D	0.59767	0.986	P	0.61874	0.895	T	0.66077	-0.6013	10	0.87932	D	0	.	6.7958	0.23725	0.0955:0.1779:0.7266:0.0	.	240	P12035	K2C3_HUMAN	F	240	ENSP00000413479:S240F;ENSP00000312206:S240F	ENSP00000312206:S240F	S	-	2	0	KRT3	51474309	0.998000	0.40836	0.081000	0.20488	0.269000	0.26545	3.574000	0.53863	1.333000	0.45449	0.655000	0.94253	TCC		0.542	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		A	53188042	G	A	53188042	3	1	565	1	0	0	0	0	1	0	0	0	8468	1174	41	2	1199	2	KRT3	12	53188042	Missense_Mutation	SNP	G	TCGA-CW-5591-01A-01D-1534-10	46694220	53188042	80663853	24	30565											
GPN3	51184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	110897606	110897606	+	Silent	SNP	G	G	T			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr12:110897606G>T	ENST00000228827.3	-	3	281	c.219C>A	c.(217-219)ccC>ccA	p.P73P	GPN3_ENST00000537466.2_Silent_p.P83P|GPN3_ENST00000543199.1_Silent_p.P112P|GPN3_ENST00000552180.1_5'Flank	NM_016301.3	NP_057385.3			GPN-loop GTPase 3									p.P112P(1)|p.P73P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						ATCCTCCGTTGGGACCGAATC	0.453																																																2	Substitution - coding silent(2)	kidney(2)											163	148	153					12																	110897606		2203	4300	6503	SO:0001819	synonymous_variant	51184			BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"GPN-loop GTPases"	30186	protein-coding gene	gene with protein product			"ATP binding domain 1 family, member C"	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.219C>A	12.37:g.110897606G>T				Silent	SNP	ENST00000228827.3	37	CCDS9147.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452313	0.26074	.	.	ENSG00000111231	ENST00000550228	T	0.27256	1.68	5.98	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18272	-1.0342	7	0.87932	D	0	-26.3324	8.0265	0.30440	0.1336:0.0:0.7387:0.1277	.	.	.	.	Q	21	ENSP00000448335:P21Q	ENSP00000448335:P21Q	P	-	2	0	GPN3	109381989	0.998000	0.40836	1.000000	0.80357	0.959000	0.62525	0.552000	0.23376	1.556000	0.49512	0.591000	0.81541	CCA		0.453	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404607.1	NM_016301		T	110897606	G	T	110897606	2	4	565	1	0	0	0	0	0	0	0	1	6621	1335	47	4		4	GPN3	12	110897606	Silent	SNP	G	TCGA-CW-5591-01A-01D-1534-10	57709564	110897606	22954289	25	30566											
NOS1	4842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117723925	117723925	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr12:117723925T>A	ENST00000338101.4	-	5	1278	c.1274A>T	c.(1273-1275)cAg>cTg	p.Q425L	NOS1_ENST00000317775.6_Missense_Mutation_p.Q425L|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.Q425L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CTTGGACCACTGGATCCTGCC	0.542																																					Esophageal Squamous(162;1748 2599 51982 52956)											1	Substitution - Missense(1)	kidney(1)											125	124	124					12																	117723925		2169	4296	6465	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1274A>T	12.37:g.117723925T>A	ENSP00000337459:p.Gln425Leu			Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965643	0.74131	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.30182	1.54;1.54	4.93	4.93	0.64822	Nitric oxide synthase, oxygenase domain (4);	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.92833	3.35	0.80722	D	1	D	0.57571	0.98	P	0.55112	0.769	T	0.70880	-0.4752	10	0.72032	D	0.01	-17.0569	14.7436	0.69474	0.0:0.0:0.0:1.0	.	425	P29475	NOS1_HUMAN	L	425	ENSP00000320758:Q425L;ENSP00000337459:Q425L	ENSP00000320758:Q425L	Q	-	2	0	NOS1	116208308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.070000	0.61991	0.482000	0.46254	CAG		0.542	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			A	117723925	T	A	117723925	3	1	565	1	0	0	0	0	1	0	0	0	10543	1580	55	5	3126	5	NOS1	12	117723925	Missense_Mutation	SNP	T	TCGA-CW-5591-01A-01D-1534-10	6826319	117723925	16127970	26	30567											
KIAA0317	9870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75136696	75136696	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr14:75136696G>A	ENST00000356357.4	-	14	2257	c.1742C>T	c.(1741-1743)aCc>aTc	p.T581I	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	581	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T581I(1)									GAAAGAGCGGGTGAAGCGAGC	0.522																																																1	Substitution - Missense(1)	kidney(1)											84	83	83					14																	75136696		1935	4127	6062	SO:0001583	missense	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1742C>T	14.37:g.75136696G>A	ENSP00000348714:p.Thr581Ile		B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244633	0.95272	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.58506	0.33;0.33	5.84	5.84	0.93424	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	L	0.47190	1.495	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	T	0.61501	-0.7050	10	0.19590	T	0.45	.	20.139	0.98050	0.0:0.0:1.0:0.0	.	581	O15033	K0317_HUMAN	I	581;420;420	ENSP00000348714:T581I;ENSP00000452101:T420I	ENSP00000348714:T581I	T	-	2	0	KIAA0317	74206449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.764000	0.94973	0.655000	0.94253	ACC		0.522	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		A	75136696	G	A	75136696	3	1	565	1	0	0	0	0	1	0	0	0	8169	1261	44	2	757	2	KIAA0317	14	75136696	Missense_Mutation	SNP	G	TCGA-CW-5591-01A-01D-1534-10		75136696	32212844	27	30568											
DIO2	1734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	80669184	80669184	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr14:80669184C>A	ENST00000557010.1	-	4	1055	c.670G>T	c.(670-672)Ggg>Tgg	p.G224W	DIO2_ENST00000555750.1_Missense_Mutation_p.G260W|DIO2_ENST00000438257.4_Missense_Mutation_p.G224W|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	224					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.G224W(1)|p.G260W(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AAGGCTACCCCGTAAGCTATG	0.542																																																2	Substitution - Missense(2)	kidney(2)											95	94	94					14																	80669184		2017	4180	6197	SO:0001583	missense	1734			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.670G>T	14.37:g.80669184C>A	ENSP00000451419:p.Gly224Trp		B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796995	0.90453	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.38887	1.11;1.11;1.11	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000002	T	0.73241	0.3562	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78229	-0.2285	10	0.87932	D	0	.	19.9785	0.97317	0.0:1.0:0.0:0.0	.	260;224;260	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	W	224;224;260	ENSP00000405854:G224W;ENSP00000451419:G224W;ENSP00000450980:G260W	ENSP00000405854:G224W	G	-	1	0	DIO2	79738937	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.059000	0.71133	2.724000	0.93272	0.650000	0.86243	GGG		0.542	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			A	80669184	C	A	80669184	3	1	565	1	0	0	0	0	1	0	0	0	4527	652	23	4	155	4	DIO2	14	80669184	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10	5532488	80669184	26680356	28	30569											
FLRT2	23768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	86088605	86088605	+	Silent	SNP	C	C	T			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr14:86088605C>T	ENST00000330753.4	+	2	1514	c.747C>T	c.(745-747)ctC>ctT	p.L249L	FLRT2_ENST00000554746.1_Silent_p.L249L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	249					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.L249L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCCCGATCTCCCAGGTACGC	0.502																																																1	Substitution - coding silent(1)	kidney(1)											87	86	86					14																	86088605		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.747C>T	14.37:g.86088605C>T			A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.502	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			T	86088605	C	T	86088605	2	4	565	1	0	0	0	0	0	0	0	1	5941	842	30	2		2	FLRT2	14	86088605	Silent	SNP	C	TCGA-CW-5591-01A-01D-1534-10	5419421	86088605	21260935	29	30570											
SENP8	123228	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72432091	72432091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr15:72432091C>T	ENST00000542035.2	+	2	460	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	SENP8_ENST00000544171.1_Nonsense_Mutation_p.Q43*|SENP8_ENST00000544411.1_Nonsense_Mutation_p.Q43*|SENP8_ENST00000340912.4_Nonsense_Mutation_p.Q43*|RP11-2I17.4_ENST00000568984.1_RNA	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	43	Protease.						cysteine-type peptidase activity (GO:0008234)	p.Q43*(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						TGCCAACAGTCAGTTTCATGA	0.478																																																1	Substitution - Nonsense(1)	kidney(1)											163	145	151					15																	72432091		2199	4297	6496	SO:0001587	stop_gained	123228			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.127C>T	15.37:g.72432091C>T	ENSP00000446057:p.Gln43*		Q96QA4	Nonsense_Mutation	SNP	ENST00000542035.2	37	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	C	36	5.756765	0.96898	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	.	.	.	5.62	4.7	0.59300	.	0.267510	0.37715	N	0.001964	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.941	16.8658	0.86029	0.0:0.8715:0.1285:0.0	.	.	.	.	X	43	.	ENSP00000340505:Q43X	Q	+	1	0	SENP8	70219145	1.000000	0.71417	0.992000	0.48379	0.938000	0.57974	3.632000	0.54287	1.491000	0.48482	0.655000	0.94253	CAG		0.478	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204		T	72432091	C	T	72432091	4	4	565	1	0	0	0	0	0	1	0	0	14058	827	29	2	129	2	SENP8	15	72432091	Nonsense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10		72432091	30099301	30	30571											
TBC1D24	57465	broad.mit.edu;hgsc.bcm.edu	37	16	2546380	2546380	+	Silent	SNP	C	C	A	rs375578380		TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr16:2546380C>A	ENST00000293970.5	+	2	364	c.231C>A	c.(229-231)atC>atA	p.I77I	TBC1D24_ENST00000434757.2_Silent_p.I77I|TBC1D24_ENST00000567020.1_Silent_p.I77I|RP11-20I23.1_ENST00000564543.1_Silent_p.I77I	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	77	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)	p.I77I(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						ACAGCGACATCGTGGGCAAGA	0.667																																																1	Substitution - coding silent(1)	kidney(1)											48	57	54					16																	2546380		2164	4268	6432	SO:0001819	synonymous_variant	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.231C>A	16.37:g.2546380C>A			A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	ENST00000293970.5	37	CCDS55980.1																																																																																				0.667	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		A	2546380	C	A	2546380	2	1	565	1	0	0	0	0	0	0	0	1	15619	874	31	4		4	TBC1D24	16	2546380	Silent	SNP	C	TCGA-CW-5591-01A-01D-1534-10		2546380	87808373	31	30572											
GPR97	222487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57713136	57713136	+	Silent	SNP	C	C	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr16:57713136C>A	ENST00000333493.4	+	5	701	c.540C>A	c.(538-540)cgC>cgA	p.R180R	GPR97_ENST00000327655.6_De_novo_Start_InFrame|GPR97_ENST00000450388.3_Silent_p.R60R|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	180					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R180R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGAACAATCGCCTGGTGGGTT	0.642																																																1	Substitution - coding silent(1)	kidney(1)											130	119	122					16																	57713136		2198	4300	6498	SO:0001819	synonymous_variant	222487			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.540C>A	16.37:g.57713136C>A			Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	CCDS10786.1																																																																																				0.642	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		A	57713136	C	A	57713136	2	1	565	1	0	0	0	0	0	0	0	1	6722	726	26	4		4	GPR97	16	57713136	Silent	SNP	C	TCGA-CW-5591-01A-01D-1534-10	55166756	57713136	32641617	32	30573											
NFATC3	4775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68156583	68156583	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr16:68156583G>C	ENST00000346183.3	+	2	821	c.797G>C	c.(796-798)aGg>aCg	p.R266T	RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.R266T|NFATC3_ENST00000329524.4_Missense_Mutation_p.R266T|NFATC3_ENST00000349223.5_Missense_Mutation_p.R266T	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	266	3 X SP repeats.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R266T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCCTCATCAAGGCCCACATCC	0.557																																																2	Substitution - Missense(2)	kidney(2)											88	85	86					16																	68156583		2198	4300	6498	SO:0001583	missense	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.797G>C	16.37:g.68156583G>C	ENSP00000300659:p.Arg266Thr		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980933	0.74474	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.15718	2.4;2.4;2.41	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.994;0.994	D;D;D;D	0.87578	0.983;0.998;0.983;0.983	T	0.48843	-0.8999	9	.	.	.	-7.2955	19.2666	0.93988	0.0:0.0:1.0:0.0	.	266;266;266;266	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	T	266	ENSP00000264008:R266T;ENSP00000300659:R266T;ENSP00000331324:R266T	.	R	+	2	0	NFATC3	66714084	1.000000	0.71417	0.994000	0.49952	0.899000	0.52679	9.416000	0.97383	2.612000	0.88384	0.563000	0.77884	AGG		0.557	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		C	68156583	G	C	68156583	3	2	565	1	0	0	0	0	1	0	0	0	10366	1000	35	4	803	4	NFATC3	16	68156583	Missense_Mutation	SNP	G	TCGA-CW-5591-01A-01D-1534-10	10443447	68156583	22198170	33	30574											
NLRP1	22861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5463037	5463038	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr17:5463037_5463038insC	ENST00000572272.1	-	4	977_978	c.978_979insG	c.(976-981)gaacctfs	p.P327fs	NLRP1_ENST00000577119.1_Frame_Shift_Ins_p.P327fs|NLRP1_ENST00000262467.5_Frame_Shift_Ins_p.P327fs|NLRP1_ENST00000354411.3_Frame_Shift_Ins_p.P327fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Frame_Shift_Ins_p.P327fs|NLRP1_ENST00000269280.4_Frame_Shift_Ins_p.P327fs			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	327					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ACTATGCGAGGTTCTTGGGTAT	0.545																																																0																																										SO:0001589	frameshift_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.978_979insG	17.37:g.5463037_5463038insC	ENSP00000460475:p.Pro327fs		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Frame_Shift_Ins	INS	ENST00000572272.1	37	CCDS42246.1																																																																																				0.545	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		C	5463038	-	C	5463037	7	5	565	1	0	1	1	0	0	0	0	0	10473	1261	44	0	3573	0	NLRP1	17	5463037	Frame_Shift_Ins	INS	-	TCGA-CW-5591-01A-01D-1534-10		5463037	75732173	34	30575	222	2									
NLRP1	22861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5463038	5463039	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr17:5463038_5463039insC	ENST00000572272.1	-	4	976_977	c.977_978insG	c.(976-978)gaafs	p.E326fs	NLRP1_ENST00000577119.1_Frame_Shift_Ins_p.E326fs|NLRP1_ENST00000262467.5_Frame_Shift_Ins_p.E326fs|NLRP1_ENST00000354411.3_Frame_Shift_Ins_p.E326fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Frame_Shift_Ins_p.E326fs|NLRP1_ENST00000269280.4_Frame_Shift_Ins_p.E326fs			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	326					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTATGCGAGGTTCTTGGGTATC	0.545																																																0																																										SO:0001589	frameshift_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.977_978insG	17.37:g.5463038_5463039insC	ENSP00000460475:p.Glu326fs		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Frame_Shift_Ins	INS	ENST00000572272.1	37	CCDS42246.1																																																																																				0.545	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		C	5463039	-	C	5463038	7	5	565	1	0	1	1	0	0	0	0	0	10473	1722	60	0	3574	0	NLRP1	17	5463038	Frame_Shift_Ins	INS	-	TCGA-CW-5591-01A-01D-1534-10	1	5463038	75732172	35	30576	222	2									
IMPA2	3613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	11999101	11999101	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr18:11999101T>G	ENST00000269159.3	+	2	387	c.145T>G	c.(145-147)Tca>Gca	p.S49A	IMPA2_ENST00000589238.1_De_novo_Start_OutOfFrame|IMPA2_ENST00000588927.1_De_novo_Start_OutOfFrame|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	49					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.S49A(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	AACAAAAACATCAGCTGCAGA	0.418																																																1	Substitution - Missense(1)	kidney(1)											140	139	139					18																	11999101		2203	4300	6503	SO:0001583	missense	3613			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.145T>G	18.37:g.11999101T>G	ENSP00000269159:p.Ser49Ala		B0YJ29|Q9UJT3	Missense_Mutation	SNP	ENST00000269159.3	37	CCDS11855.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339912	0.41398	.	.	ENSG00000141401	ENST00000269159;ENST00000383376	T;T	0.45668	0.89;0.89	5.38	5.38	0.77491	.	0.088789	0.47852	D	0.000209	T	0.36468	0.0968	L	0.43598	1.365	0.80722	D	1	B	0.02656	0.0	B	0.13407	0.009	T	0.12426	-1.0548	10	0.22706	T	0.39	-11.9321	15.072	0.72046	0.0:0.0:0.0:1.0	.	49	O14732	IMPA2_HUMAN	A	49	ENSP00000269159:S49A;ENSP00000372867:S49A	ENSP00000269159:S49A	S	+	1	0	IMPA2	11989101	1.000000	0.71417	0.998000	0.56505	0.529000	0.34654	3.599000	0.54045	2.046000	0.60703	0.533000	0.62120	TCA		0.418	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			G	11999101	T	G	11999101	3	3	565	1	0	0	0	0	1	0	0	0	7725	1435	50	5	151	5	IMPA2	18	11999101	Missense_Mutation	SNP	T	TCGA-CW-5591-01A-01D-1534-10		11999101	66078147	36	30577											
MLLT1	4298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6218035	6218035	+	Silent	SNP	C	C	T			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr19:6218035C>T	ENST00000252674.7	-	7	1291	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	MLLT1_ENST00000585588.1_5'Flank	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	376	Poly-Ser.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)	p.P376P(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TGGAGTTGGACGGGCTTGACT	0.612			T	MLL	AL						OREG0025196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		19	19p13.3	4298	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"		L	1	Substitution - coding silent(1)	kidney(1)											161	127	138					19																	6218035		2197	4295	6492	SO:0001819	synonymous_variant	4298				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1128G>A	19.37:g.6218035C>T		632	Q14768	Silent	SNP	ENST00000252674.7	37	CCDS12160.1																																																																																				0.612	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		T	6218035	C	T	6218035	2	4	565	1	0	0	0	0	0	0	0	1	9627	523	19	1		1	MLLT1	19	6218035	Silent	SNP	C	TCGA-CW-5591-01A-01D-1534-10		6218035	52910948	37	30578											
ZNF98	148198	broad.mit.edu;hgsc.bcm.edu	37	19	22574443	22574443	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr19:22574443T>C	ENST00000357774.5	-	4	1715	c.1594A>G	c.(1594-1596)Att>Gtt	p.I532V		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I532V(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CTGTTAAGAATAGAGGAGTTG	0.363																																																2	Substitution - Missense(2)	kidney(2)											48	41	43					19																	22574443		2107	4245	6352	SO:0001583	missense	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1594A>G	19.37:g.22574443T>C	ENSP00000350418:p.Ile532Val			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.033064	0.00406	.	.	ENSG00000197360	ENST00000357774	T	0.07216	3.21	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.11818	0.18	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.42999	-0.9418	9	0.15952	T	0.53	.	0.991	0.01457	0.164:0.1475:0.3258:0.3627	.	532	A6NK75	ZNF98_HUMAN	V	532	ENSP00000350418:I532V	ENSP00000350418:I532V	I	-	1	0	ZNF98	22366283	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-3.261000	0.00536	-2.294000	0.00663	-1.118000	0.02043	ATT		0.363	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		C	22574443	T	C	22574443	3	2	565	1	0	0	0	0	1	0	0	0	18208	1406	49	3	128	3	ZNF98	19	22574443	Missense_Mutation	SNP	T	TCGA-CW-5591-01A-01D-1534-10	16356408	22574443	36554540	38	30579											
ZNF765	91661	broad.mit.edu	37	19	53911474	53911474	+	Silent	SNP	A	A	G			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr19:53911474A>G	ENST00000396408.3	+	4	783	c.666A>G	c.(664-666)aaA>aaG	p.K222K	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K222K(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ACAGTGGCAAAGCCTATAATT	0.343																																																1	Substitution - coding silent(1)	kidney(1)											73	74	73					19																	53911474		2193	4295	6488	SO:0001819	synonymous_variant	91661			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.666A>G	19.37:g.53911474A>G			A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Silent	SNP	ENST00000396408.3	37	CCDS46171.1																																																																																				0.343	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		G	53911474	A	G	53911474	2	3	565	1	0	0	0	0	0	0	0	1	18144	69	3	3		3	ZNF765	19	53911474	Silent	SNP	A	TCGA-CW-5591-01A-01D-1534-10	31337031	53911474	5217509	39	30580											
CENPB	1059	hgsc.bcm.edu	37	20	3765529	3765529	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr20:3765529C>A	ENST00000379751.4	-	1	1808	c.1602G>T	c.(1600-1602)gaG>gaT	p.E534D	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	534	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						catcaccatcctcctcatcat	0.532																																																0													228	168	188					20																	3765529		2203	4300	6503	SO:0001583	missense	1059			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1602G>T	20.37:g.3765529C>A	ENSP00000369075:p.Glu534Asp		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	C	8.720	0.914144	0.17907	.	.	ENSG00000125817	ENST00000379751;ENST00000536335	T	0.20881	2.04	4.83	-5.16	0.02857	Centromere protein Cenp-B, dimerisation domain (1);	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.24123	N	0.995794	B	0.02656	0.0	B	0.06405	0.002	T	0.39542	-0.9609	9	0.13108	T	0.6	.	0.1878	0.00130	0.3542:0.214:0.1737:0.2582	.	534	P07199	CENPB_HUMAN	D	534;73	ENSP00000369075:E534D	ENSP00000369075:E534D	E	-	3	2	CENPB	3713529	0.418000	0.25440	0.971000	0.41717	0.630000	0.37929	-0.627000	0.05521	-0.450000	0.07107	-0.182000	0.12963	GAG		0.532	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		A	3765529	C	A	3765529	3	1	565	1	0	0	0	0	1	0	0	0	3229	680	24	4	201	4	CENPB	20	3765529	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10		3765529	59259991	40	30581	223	2									
CENPB	1059	hgsc.bcm.edu	37	20	3765532	3765532	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr20:3765532C>A	ENST00000379751.4	-	1	1805	c.1599G>T	c.(1597-1599)gaG>gaT	p.E533D	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	533	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						caccatcctcctcatcatcat	0.532																																																0													228	168	189					20																	3765532		2203	4300	6503	SO:0001583	missense	1059			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1599G>T	20.37:g.3765532C>A	ENSP00000369075:p.Glu533Asp		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	C	0.154	-1.088582	0.01873	.	.	ENSG00000125817	ENST00000379751;ENST00000536335	T	0.16597	2.33	4.83	-6.93	0.01638	Centromere protein Cenp-B, dimerisation domain (1);	.	.	.	.	T	0.05044	0.0135	N	0.03608	-0.345	0.20873	N	0.999839	B	0.02656	0.0	B	0.04013	0.001	T	0.46884	-0.9159	9	0.07813	T	0.8	.	8.9314	0.35672	0.3817:0.1524:0.4659:0.0	.	533	P07199	CENPB_HUMAN	D	533;72	ENSP00000369075:E533D	ENSP00000369075:E533D	E	-	3	2	CENPB	3713532	0.001000	0.12720	0.942000	0.38095	0.429000	0.31625	-2.904000	0.00702	-0.639000	0.05502	-0.176000	0.13171	GAG		0.532	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		A	3765532	C	A	3765532	3	1	565	1	0	0	0	0	1	0	0	0	3229	680	24	4	204	4	CENPB	20	3765532	Missense_Mutation	SNP	C	TCGA-CW-5591-01A-01D-1534-10	3	3765532	59259988	41	30582	223	2									
SON	6651	hgsc.bcm.edu	37	21	34925612	34925635	+	In_Frame_Del	DEL	GTCCTGGAGTCTTCGGCTGTGACC	GTCCTGGAGTCTTCGGCTGTGACC	-	rs140276173|rs550454473|rs113673546	byFrequency	TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	GTCCTGGAGTCTTCGGCTGTGACC	GTCCTGGAGTCTTCGGCTGTGACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr21:34925612_34925635delGTCCTGGAGTCTTCGGCTGTGACC	ENST00000356577.4	+	3	4550_4573	c.4075_4098delGTCCTGGAGTCTTCGGCTGTGACC	c.(4075-4098)gtcctggagtcttcggctgtgaccdel	p.VLESSAVT1359del	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_In_Frame_Del_p.VLESSAVT1359del|SON_ENST00000290239.6_In_Frame_Del_p.VLESSAVT1359del|SON_ENST00000381679.4_In_Frame_Del_p.VLESSAVT1359del	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1359	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGCTATGGCTGTCCTGGAGTCTTCGGCTGTGACCGTCCTGGAGT	0.571																																																0									,	21,4243		0,21,2111					,	-0.6	0			44	100,8154		0,100,4027	no	coding,coding	SON	NM_138927.1,NM_032195.1	,	0,121,6138	A1A1,A1R,RR		1.2115,0.4925,0.9666	,	,		121,12397				SO:0001651	inframe_deletion	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4075_4098delGTCCTGGAGTCTTCGGCTGTGACC	21.37:g.34925612_34925635delGTCCTGGAGTCTTCGGCTGTGACC	ENSP00000348984:p.Val1359_Thr1366del		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	In_Frame_Del	DEL	ENST00000356577.4	37	CCDS13629.1																																																																																				0.571	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		-	34925635	GTCCTGGAGTCTTCGGCTGTGACC	-	34925612	7	5	565	1	0	1	0	1	0	0	0	0	14932	1377	48	0	4085	0	SON	21	34925612	In_Frame_Del	DEL	GTCCTGGAGTCTTCGGCTGTGACC	TCGA-CW-5591-01A-01D-1534-10		34925612	13204283	42	30583											
UPB1	51733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24921682	24921682	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chr22:24921682A>G	ENST00000326010.5	+	10	1419	c.1075A>G	c.(1075-1077)Acg>Gcg	p.T359A	UPB1_ENST00000413389.2_Missense_Mutation_p.T291A|UPB1_ENST00000498140.1_3'UTR	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	359	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.T359A(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CTTTCAGATGACGGGCAGGTA	0.527											OREG0026412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											170	162	165					22																	24921682		2203	4300	6503	SO:0001583	missense	51733			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.1075A>G	22.37:g.24921682A>G	ENSP00000324343:p.Thr359Ala	775	A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716699	0.89205	.	.	ENSG00000100024	ENST00000413389;ENST00000326010	D;D	0.85484	-1.99;-1.99	5.72	5.72	0.89469	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.93582	0.7951	H	0.94582	3.555	0.80722	D	1	D;D	0.63046	0.992;0.96	P;P	0.60541	0.876;0.746	D	0.94561	0.7762	10	0.51188	T	0.08	-13.4847	15.1216	0.72447	1.0:0.0:0.0:0.0	.	359;291	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	A	291;359	ENSP00000406057:T291A;ENSP00000324343:T359A	ENSP00000324343:T359A	T	+	1	0	UPB1	23251682	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	8.570000	0.90748	2.311000	0.77944	0.533000	0.62120	ACG		0.527	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			G	24921682	A	G	24921682	3	3	565	1	0	0	0	0	1	0	0	0	17007	275	10	3	1113	3	UPB1	22	24921682	Missense_Mutation	SNP	A	TCGA-CW-5591-01A-01D-1534-10		24921682	26382884	43	30584											
FRMD7	90167	hgsc.bcm.edu	37	X	131261862	131261862	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-5591-01A-01D-1534-10	TCGA-CW-5591-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	02ac80cd-caa3-4dbc-9b57-4a324cec0ad4	62481cc6-a290-4771-a728-4a69a49f1cfc	g.chrX:131261862delA	ENST00000298542.4	-	1	186	c.11delT	c.(10-12)ttafs	p.L4fs	FRMD7_ENST00000464296.1_Frame_Shift_Del_p.L4fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	4	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTGCACTTTTAAATGTAGCAT	0.428																																																0													93	86	88					X																	131261862		2203	4300	6503	SO:0001589	frameshift_variant	90167			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.11delT	X.37:g.131261862delA	ENSP00000298542:p.Leu4fs		C0LLJ3|Q5JX99	Frame_Shift_Del	DEL	ENST00000298542.4	37	CCDS35397.1																																																																																				0.428	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		-	131261862	A	-	131261862	7	5	565	1	0	1	0	1	0	0	0	0	6057	372	13	0	2181	0	FRMD7	23	131261862	Frame_Shift_Del	DEL	A	TCGA-CW-5591-01A-01D-1534-10		131261862	24008698	44	30585											
PLA2G2F	64600	broad.mit.edu	37	1	20470069	20470069	+	Silent	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:20470069G>A	ENST00000375102.3	+	3	402	c.300G>A	c.(298-300)aaG>aaA	p.K100K		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	57					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.K100K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GCCAGCCCAAGGATGAGGTGG	0.637																																																1	Substitution - coding silent(1)	kidney(1)											68	62	64					1																	20470069		2203	4300	6503	SO:0001819	synonymous_variant	64600			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.300G>A	1.37:g.20470069G>A			Q5R385|Q8N217|Q9H506	Silent	SNP	ENST00000375102.3	37	CCDS204.2																																																																																				0.637	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819		A	20470069	G	A	20470069	2	1	566	1	0	0	0	0	0	0	0	1	12001	991	35	2		2	PLA2G2F	1	20470069	Silent	SNP	G	TCGA-CW-6087-01A-11D-1669-08		20470069	228780552	1	30586											
EIF4G3	8672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21268372	21268372	+	Silent	SNP	C	C	T	rs150884106		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:21268372C>T	ENST00000264211.8	-	8	1301	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EIF4G3_ENST00000602326.1_Silent_p.T375T|EIF4G3_ENST00000400422.1_Silent_p.T369T|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Silent_p.T375T|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Silent_p.T369T|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Silent_p.T380T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	369					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T375T(1)|p.T369T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAATGCTCTCCGTGGCTGATA	0.383																																																2	Substitution - coding silent(2)	kidney(2)											115	116	116					1																	21268372		2203	4300	6503	SO:0001819	synonymous_variant	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1107G>A	1.37:g.21268372C>T			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																				0.383	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		T	21268372	C	T	21268372	2	4	566	1	0	0	0	0	0	0	0	1	5040	639	23	1		1	EIF4G3	1	21268372	Silent	SNP	C	TCGA-CW-6087-01A-11D-1669-08	798303	21268372	227982249	2	30587											
IL28RA	163702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24484205	24484205	+	Silent	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:24484205T>C	ENST00000327535.1	-	7	990	c.978A>G	c.(976-978)gaA>gaG	p.E326E	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Silent_p.E297E	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	326					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)		p.E326E(1)									CCTCCTCCTCTTCGTCCTCTG	0.592																																																1	Substitution - coding silent(1)	kidney(1)											181	175	177					1																	24484205		2203	4300	6503	SO:0001819	synonymous_variant	0			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.978A>G	1.37:g.24484205T>C			Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	CCDS248.1																																																																																				0.592	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		C	24484205	T	C	24484205	2	2	566	1	0	0	0	0	0	0	0	1	7686	1606	56	3		3	IL28RA	1	24484205	Silent	SNP	T	TCGA-CW-6087-01A-11D-1669-08	3215833	24484205	224766416	3	30588											
EXTL1	2134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26355761	26355761	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:26355761T>A	ENST00000374280.3	+	2	1724	c.857T>A	c.(856-858)tTc>tAc	p.F286Y	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	286					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.F286Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCGCGCTTCCTCCAAGCC	0.622																																																1	Substitution - Missense(1)	kidney(1)											92	86	88					1																	26355761		2203	4300	6503	SO:0001583	missense	2134			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.857T>A	1.37:g.26355761T>A	ENSP00000363398:p.Phe286Tyr		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	CCDS271.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284537	0.80803	.	.	ENSG00000158008	ENST00000374280	D	0.97811	-4.55	3.91	3.91	0.45181	.	0.067410	0.64402	D	0.000013	D	0.98425	0.9476	M	0.86268	2.805	0.54753	D	0.99998	D	0.76494	0.999	D	0.77004	0.989	D	0.98826	1.0749	10	0.87932	D	0	-20.1562	9.3164	0.37937	0.0:0.0:0.0:1.0	.	286	Q92935	EXTL1_HUMAN	Y	286	ENSP00000363398:F286Y	ENSP00000363398:F286Y	F	+	2	0	EXTL1	26228348	1.000000	0.71417	0.996000	0.52242	0.773000	0.43773	5.471000	0.66762	1.783000	0.52377	0.459000	0.35465	TTC		0.622	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		A	26355761	T	A	26355761	3	1	566	1	0	0	0	0	1	0	0	0	5327	1783	62	5	863	5	EXTL1	1	26355761	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08	1871556	26355761	222894860	4	30589											
FOXJ3	22887	broad.mit.edu;hgsc.bcm.edu	37	1	42730816	42730816	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:42730816T>A	ENST00000372572.1	-	6	725	c.414A>T	c.(412-414)aaA>aaT	p.K138N	FOXJ3_ENST00000361776.1_Missense_Mutation_p.K138N|FOXJ3_ENST00000545068.1_Missense_Mutation_p.K138N|FOXJ3_ENST00000372573.1_Missense_Mutation_p.K138N|FOXJ3_ENST00000361346.1_Missense_Mutation_p.K138N	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	138					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K138N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCGAGGCACTTTAAGGAAAC	0.333																																																1	Substitution - Missense(1)	kidney(1)											143	147	146					1																	42730816		2203	4300	6503	SO:0001583	missense	22887			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.414A>T	1.37:g.42730816T>A	ENSP00000361653:p.Lys138Asn		A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	T	34	5.379243	0.95945	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.65	5.65	0.86999	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.173937	0.46758	D	0.000272	D	0.98526	0.9508	M	0.91090	3.175	0.80722	D	1	D;D	0.64830	0.994;0.957	D;P	0.64321	0.924;0.651	D	0.99486	1.0949	10	0.87932	D	0	.	13.8247	0.63343	0.0:0.0:0.0:1.0	.	138;138	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	N	138;138;138;138;138;138;95	ENSP00000361654:K138N;ENSP00000361653:K138N;ENSP00000354620:K138N;ENSP00000354449:K138N;ENSP00000439044:K138N;ENSP00000393408:K138N;ENSP00000403060:K95N	ENSP00000354620:K138N	K	-	3	2	FOXJ3	42503403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.638000	0.61353	2.143000	0.66587	0.460000	0.39030	AAA		0.333	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		A	42730816	T	A	42730816	3	1	566	1	0	0	0	0	1	0	0	0	6015	1606	56	5	1494	5	FOXJ3	1	42730816	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08	16375055	42730816	206519805	5	30590											
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62341007	62341007	+	Silent	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:62341007T>A	ENST00000371158.2	+	21	3042	c.2928T>A	c.(2926-2928)ctT>ctA	p.L976L	INADL_ENST00000316485.6_Silent_p.L976L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	976					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.L976L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGGAAAATCTTAATTCATTAG	0.338																																																1	Substitution - coding silent(1)	kidney(1)											99	100	100					1																	62341007		2203	4300	6503	SO:0001819	synonymous_variant	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2928T>A	1.37:g.62341007T>A			O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				0.338	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		A	62341007	T	A	62341007	2	1	566	1	0	0	0	0	0	0	0	1	7733	1741	61	5		5	INADL	1	62341007	Silent	SNP	T	TCGA-CW-6087-01A-11D-1669-08	19610191	62341007	186909614	6	30591											
CLCA4	22802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	87025997	87025997	+	Missense_Mutation	SNP	C	C	T	rs558449055	byFrequency	TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr1:87025997C>T	ENST00000370563.3	+	3	446	c.404C>T	c.(403-405)cCt>cTt	p.P135L	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	135	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.P135L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CACTTCACCCCTGACCTTCTA	0.383																																																1	Substitution - Missense(1)	kidney(1)											128	110	116					1																	87025997		1862	4099	5961	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.404C>T	1.37:g.87025997C>T	ENSP00000359594:p.Pro135Leu		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681054	0.88542	.	.	ENSG00000016602	ENST00000370563	T	0.26518	1.73	5.75	5.75	0.90469	Chloride channel calcium-activated (1);	0.060495	0.64402	D	0.000003	T	0.46502	0.1396	M	0.87381	2.88	0.80722	D	1	P	0.47409	0.895	P	0.55011	0.766	T	0.52388	-0.8582	10	0.72032	D	0.01	-21.0511	19.5458	0.95297	0.0:1.0:0.0:0.0	.	135	Q14CN2	CLCA4_HUMAN	L	135	ENSP00000359594:P135L	ENSP00000359594:P135L	P	+	2	0	CLCA4	86798585	0.998000	0.40836	0.996000	0.52242	0.848000	0.48234	5.835000	0.69368	2.705000	0.92388	0.655000	0.94253	CCT		0.383	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		T	87025997	C	T	87025997	3	4	566	1	0	0	0	0	1	0	0	0	3461	681	24	2	414	2	CLCA4	1	87025997	Missense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08	24684990	87025997	162224624	7	30592											
VWA3B	200403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	98828414	98828414	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr2:98828414C>G	ENST00000477737.1	+	13	1963	c.1759C>G	c.(1759-1761)Ctg>Gtg	p.L587V	VWA3B_ENST00000451075.2_Missense_Mutation_p.L437V|VWA3B_ENST00000435344.1_Missense_Mutation_p.L587V	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	587	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.L587V(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CACAAACACCCTGAGTGCCCT	0.428																																																1	Substitution - Missense(1)	kidney(1)											98	98	98					2																	98828414		1862	4107	5969	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1759C>G	2.37:g.98828414C>G	ENSP00000417955:p.Leu587Val		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	9.780	1.175101	0.21704	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.77620	-1.11;3.02;-1.11	5.55	0.29	0.15728	von Willebrand factor, type A (3);	0.350509	0.23981	N	0.042664	D	0.84320	0.5446	M	0.86268	2.805	0.09310	N	1	B;P;D;P	0.76494	0.245;0.662;0.999;0.873	B;B;D;P	0.76575	0.424;0.335;0.988;0.49	T	0.72443	-0.4292	10	0.59425	D	0.04	.	2.767	0.05323	0.1264:0.5293:0.1231:0.2212	.	437;587;587;587	B7Z7Q7;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	V	587;587;437	ENSP00000401959:L587V;ENSP00000417955:L587V;ENSP00000389463:L437V	ENSP00000388158:L587V	L	+	1	2	VWA3B	98194846	0.962000	0.33011	0.070000	0.20053	0.535000	0.34838	0.697000	0.25556	0.124000	0.18369	-0.373000	0.07131	CTG		0.428	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		G	98828414	C	G	98828414	3	3	566	1	0	0	0	0	1	0	0	0	17246	680	24	4	1805	4	VWA3B	2	98828414	Missense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08		98828414	144370959	8	30593											
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141122269	141122269	+	Missense_Mutation	SNP	C	C	T	rs199912333		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr2:141122269C>T	ENST00000389484.3	-	72	12063	c.11092G>A	c.(11092-11094)Gac>Aac	p.D3698N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3698	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D3698N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCCACAGTCGTCCTCTCCA	0.408										TSP Lung(27;0.18)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17429	0.001		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)											1	Substitution - Missense(1)	kidney(1)											115	114	114					2																	141122269		2203	4299	6502	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11092G>A	2.37:g.141122269C>T	ENSP00000374135:p.Asp3698Asn		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	35	5.476263	0.96291	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99005	-5.32	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	M	0.85710	2.77	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.99360	1.0917	10	0.41790	T	0.15	.	19.9311	0.97118	0.0:1.0:0.0:0.0	.	3698	Q9NZR2	LRP1B_HUMAN	N	3698;3636	ENSP00000374135:D3698N	ENSP00000374135:D3698N	D	-	1	0	LRP1B	140838739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.782000	0.95742	0.655000	0.94253	GAC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		T	141122269	C	T	141122269	3	4	566	1	0	0	0	0	1	0	0	0	8957	884	31	1	2787	1	LRP1B	2	141122269	Missense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08	42293855	141122269	102077104	9	30594											
SCN10A	6336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38783881	38783881	+	Silent	SNP	G	G	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr3:38783881G>T	ENST00000449082.2	-	13	2006	c.2007C>A	c.(2005-2007)ctC>ctA	p.L669L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	669					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L669L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGGTGATGGTGAGCTCTGCAA	0.527																																																1	Substitution - coding silent(1)	kidney(1)											153	125	135					3																	38783881		2203	4300	6503	SO:0001819	synonymous_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2007C>A	3.37:g.38783881G>T			A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		T	38783881	G	T	38783881	2	4	566	1	0	0	0	0	0	0	0	1	13918	1277	45	4		4	SCN10A	3	38783881	Silent	SNP	G	TCGA-CW-6087-01A-11D-1669-08		38783881	159238549	10	30595											
ACOX2	8309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	58490979	58490979	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr3:58490979A>G	ENST00000302819.5	-	15	2309	c.2018T>C	c.(2017-2019)cTt>cCt	p.L673P	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.L659P	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	673					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.L673P(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		ACTTTGTAAAAGTGGTCTTAT	0.363																																																2	Substitution - Missense(2)	kidney(1)|skin(1)											182	185	184					3																	58490979		2203	4299	6502	SO:0001583	missense	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.2018T>C	3.37:g.58490979A>G	ENSP00000307697:p.Leu673Pro		A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196525	0.58126	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.48522	0.81;0.81	5.72	5.72	0.89469	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.275088	0.25099	N	0.033159	T	0.73187	0.3555	M	0.88105	2.93	0.43714	D	0.996189	D	0.89917	1.0	D	0.76071	0.987	T	0.78807	-0.2059	10	0.87932	D	0	-10.7686	14.2685	0.66138	1.0:0.0:0.0:0.0	.	673	Q99424	ACOX2_HUMAN	P	659;673	ENSP00000418562:L659P;ENSP00000307697:L673P	ENSP00000307697:L673P	L	-	2	0	ACOX2	58466019	0.972000	0.33761	0.082000	0.20525	0.857000	0.48899	3.803000	0.55560	2.190000	0.69967	0.472000	0.43445	CTT		0.363	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			G	58490979	A	G	58490979	3	3	566	1	0	0	0	0	1	0	0	0	159	72	3	3	31	3	ACOX2	3	58490979	Missense_Mutation	SNP	A	TCGA-CW-6087-01A-11D-1669-08	19707098	58490979	139531451	11	30596											
RFC4	5984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186508173	186508173	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr3:186508173T>C	ENST00000392481.2	-	9	1105	c.824A>G	c.(823-825)gAt>gGt	p.D275G	SNORA4_ENST00000584302.1_RNA|RFC4_ENST00000433496.1_Intron|SNORA63_ENST00000363450.1_RNA|RFC4_ENST00000296273.2_Missense_Mutation_p.D275G	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	275					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.D275G(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AAATACTCCATCAATTTTCTC	0.428																																																1	Substitution - Missense(1)	kidney(1)											112	112	112					3																	186508173		2203	4300	6503	SO:0001583	missense	5984				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"ATPases / AAA-type"	9972	protein-coding gene	gene with protein product	"A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit"	102577	"replication factor C (activator 1) 4 (37kD)"			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.824A>G	3.37:g.186508173T>C	ENSP00000376272:p.Asp275Gly		B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616790	0.28801	.	.	ENSG00000163918	ENST00000392481;ENST00000296273;ENST00000417876	T;T;T	0.44482	0.92;0.92;0.92	5.32	2.79	0.32731	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.428568	0.30538	N	0.009405	T	0.38321	0.1036	M	0.70787	2.145	0.53005	D	0.999969	B	0.02656	0.0	B	0.04013	0.001	T	0.30966	-0.9960	10	0.48119	T	0.1	.	6.9715	0.24652	0.0:0.0842:0.1493:0.7664	.	275	P35249	RFC4_HUMAN	G	275;275;50	ENSP00000376272:D275G;ENSP00000296273:D275G;ENSP00000401429:D50G	ENSP00000296273:D275G	D	-	2	0	RFC4	187990867	0.999000	0.42202	0.697000	0.30258	0.437000	0.31866	2.471000	0.45127	0.970000	0.38263	0.459000	0.35465	GAT		0.428	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		C	186508173	T	C	186508173	3	2	566	1	0	0	0	0	1	0	0	0	13253	1435	50	3	279	3	RFC4	3	186508173	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08	128017194	186508173	11514257	12	30597											
TNK2	10188	broad.mit.edu	37	3	195594610	195594610	+	Silent	SNP	C	C	T	rs566117421		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr3:195594610C>T	ENST00000333602.6	-	12	3131	c.2514G>A	c.(2512-2514)ccG>ccA	p.P838P	TNK2_ENST00000428187.1_Silent_p.P870P|TNK2_ENST00000392400.1_Silent_p.P838P|TNK2_ENST00000381916.2_Silent_p.P916P	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	838	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.|PRA -> AG (in Ref. 1; AAA53570). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.P916P(1)|p.P838P(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GACCAGCCCGCGGGCCAGGGG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		10844	0.001		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)											19	21	20					3																	195594610		2190	4285	6475	SO:0001819	synonymous_variant	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2514G>A	3.37:g.195594610C>T			Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	CCDS33928.1																																																																																				0.652	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		T	195594610	C	T	195594610	2	4	566	1	0	0	0	0	0	0	0	1	16323	755	27	1		1	TNK2	3	195594610	Silent	SNP	C	TCGA-CW-6087-01A-11D-1669-08	9086437	195594610	2427820	13	30598											
UGT2B10	7365	broad.mit.edu;hgsc.bcm.edu	37	4	69692199	69692199	+	Silent	SNP	C	C	T	rs202031177	byFrequency	TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr4:69692199C>T	ENST00000265403.7	+	4	1098	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	UGT2B10_ENST00000458688.2_Silent_p.P273P	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	357					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.P357P(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGTGGATACCCCAGAATGACC	0.378																																					Melanoma(133;755 1763 25578 26334 46021)											2	Substitution - coding silent(2)	kidney(2)											131	124	127					4																	69692199		2203	4300	6503	SO:0001819	synonymous_variant	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1071C>T	4.37:g.69692199C>T			A8K9M3|B4DPP1|Q14CR8	Silent	SNP	ENST00000265403.7	37																																																																																					0.378	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		T	69692199	C	T	69692199	2	4	566	1	0	0	0	0	0	0	0	1	16961	610	22	2		2	UGT2B10	4	69692199	Silent	SNP	C	TCGA-CW-6087-01A-11D-1669-08		69692199	121462077	14	30599											
HMGCS1	3157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43295906	43295906	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr5:43295906T>A	ENST00000325110.6	-	6	1059	c.853A>T	c.(853-855)Aat>Tat	p.N285Y	HMGCS1_ENST00000433297.2_Missense_Mutation_p.N285Y	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	285					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)	p.N285Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TTCTGGTCATTAAGGAAGTCA	0.353																																																1	Substitution - Missense(1)	kidney(1)											88	93	91					5																	43295906		2203	4300	6503	SO:0001583	missense	3157				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"	142940	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.853A>T	5.37:g.43295906T>A	ENSP00000322706:p.Asn285Tyr		B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.206079	0.39003	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	T;T	0.77098	-1.07;-1.07	5.66	5.66	0.87406	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.156973	0.64402	D	0.000001	T	0.70395	0.3219	L	0.34521	1.04	0.41206	D	0.986409	B	0.09022	0.002	B	0.12837	0.008	T	0.66799	-0.5832	10	0.52906	T	0.07	-17.7617	15.8804	0.79201	0.0:0.0:0.0:1.0	.	285	Q01581	HMCS1_HUMAN	Y	285;285;274	ENSP00000322706:N285Y;ENSP00000399402:N285Y	ENSP00000322706:N285Y	N	-	1	0	HMGCS1	43331663	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.642000	0.54367	2.160000	0.67779	0.477000	0.44152	AAT		0.353	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			A	43295906	T	A	43295906	3	1	566	1	0	0	0	0	1	0	0	0	7234	1754	61	5	733	5	HMGCS1	5	43295906	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08		43295906	137619354	15	30600											
FTMT	94033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	121187839	121187839	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr5:121187839C>T	ENST00000321339.1	+	1	190	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	61					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.P61S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCCTACCGGGCCCGCCGCCGG	0.741																																																1	Substitution - Missense(1)	kidney(1)											13	15	14					5																	121187839		2196	4294	6490	SO:0001583	missense	94033			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.181C>T	5.37:g.121187839C>T	ENSP00000313691:p.Pro61Ser			Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	7.745	0.702046	0.15172	.	.	ENSG00000181867	ENST00000321339	T	0.62639	0.01	3.2	-2.12	0.07165	.	.	.	.	.	T	0.38374	0.1038	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14227	-1.0480	9	0.28530	T	0.3	.	3.7201	0.08453	0.2493:0.5035:0.1505:0.0968	.	61	Q8N4E7	FTMT_HUMAN	S	61	ENSP00000313691:P61S	ENSP00000313691:P61S	P	+	1	0	FTMT	121215738	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.261000	0.08694	-0.553000	0.06158	-0.825000	0.03093	CCC		0.741	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		T	121187839	C	T	121187839	3	4	566	1	0	0	0	0	1	0	0	0	6087	739	26	2	183	2	FTMT	5	121187839	Missense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08	77891933	121187839	59727421	16	30601											
ZNF608	57507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	124079840	124079840	+	Silent	SNP	C	C	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr5:124079840C>T	ENST00000306315.5	-	1	1278	c.843G>A	c.(841-843)ttG>ttA	p.L281L	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	281							metal ion binding (GO:0046872)	p.L281L(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCTTCTTTACCAACATAGAGT	0.552																																																1	Substitution - coding silent(1)	kidney(1)											140	145	144					5																	124079840		2090	4117	6207	SO:0001819	synonymous_variant	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.843G>A	5.37:g.124079840C>T			A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	CCDS34219.1																																																																																				0.552	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		T	124079840	C	T	124079840	2	4	566	1	0	0	0	0	0	0	0	1	18039	593	21	2		2	ZNF608	5	124079840	Silent	SNP	C	TCGA-CW-6087-01A-11D-1669-08	2892001	124079840	56835420	17	30602											
SRA1	8637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139930679	139930679	+	IGR	SNP	G	G	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr5:139930679G>T	ENST00000310331.2	+	0	691				SRA1_ENST00000520427.1_5'UTR|SRA1_ENST00000336283.6_Missense_Mutation_p.P156T	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)	p.P156T(1)		endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTTACAGGTATTGACAAC	0.517																																																1	Substitution - Missense(1)	kidney(1)											182	157	166					5																	139930679		2203	4300	6503	SO:0001628	intergenic_variant	10011			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139930679G>T				Missense_Mutation	SNP	ENST00000310331.2	37	CCDS4226.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437781	0.62955	.	.	ENSG00000213523	ENST00000336283;ENST00000520427	T	0.50548	0.74	5.95	5.08	0.68730	.	0.179301	0.37530	U	0.002048	T	0.59404	0.2191	M	0.79926	2.475	0.45580	D	0.998527	P	0.47762	0.9	P	0.50934	0.654	T	0.62950	-0.6745	9	.	.	.	.	11.3476	0.49569	0.1387:0.0:0.8613:0.0	.	156	Q9HD15	SRA1_HUMAN	T	156;82	ENSP00000337513:P156T	.	P	-	1	0	SRA1	139910863	0.984000	0.35163	0.912000	0.35992	0.960000	0.62799	1.900000	0.39828	1.527000	0.49086	0.563000	0.77884	CCT		0.517	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2	NM_003732		T	139930679	G	T	139930679	1	4	566	0	1	0	0	0	0	0	0	0	15137	1261	44	4		4	SRA1	5	139930679	IGR	SNP	G	TCGA-CW-6087-01A-11D-1669-08	15850839	139930679	40984581	18	30603											
PCDHB9	57717	broad.mit.edu	37	5	140568303	140568303	+	IGR	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr5:140568303G>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCACATCGGCAGTGTCAGC	0.657																																																0													93	105	101					5																	140568303		2203	4296	6499	SO:0001628	intergenic_variant	56127			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568303G>A			B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.657	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		A	140568303	G	A	140568303	1	1	566	0	1	0	0	0	0	0	0	0	11551	1203	42	2		2	PCDHB9	5	140568303	IGR	SNP	G	TCGA-CW-6087-01A-11D-1669-08	637624	140568303	40346957	19	30604											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56501389	56501389	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr6:56501389T>A	ENST00000361203.3	-	19	2400	c.2393A>T	c.(2392-2394)gAg>gTg	p.E798V	DST_ENST00000312431.6_Missense_Mutation_p.E798V|DST_ENST00000370769.4_Missense_Mutation_p.E798V|DST_ENST00000244364.6_Missense_Mutation_p.E472V|DST_ENST00000370754.5_Missense_Mutation_p.E976V|DST_ENST00000370765.6_Missense_Mutation_p.E472V|DST_ENST00000370788.2_Missense_Mutation_p.E798V|DST_ENST00000446842.2_Missense_Mutation_p.E472V|DST_ENST00000518935.1_Missense_Mutation_p.E472V|DST_ENST00000421834.2_Missense_Mutation_p.E798V			Q03001	DYST_HUMAN	dystonin	798					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E472V(3)|p.E798V(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTGCTGCTCCACACACTG	0.448																																																4	Substitution - Missense(4)	kidney(4)											202	165	178					6																	56501389		2203	4300	6503	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2393A>T	6.37:g.56501389T>A	ENSP00000354508:p.Glu798Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	29.0	4.969581	0.92855	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	5.25	5.25	0.73442	.	0.000000	0.49305	D	0.000156	D	0.97854	0.9295	M	0.89601	3.045	0.34762	D	0.732858	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.987	D;D;D;D;D;D;D;P	0.91635	0.998;0.983;0.998;0.999;0.999;0.999;0.995;0.907	D	0.98713	1.0705	9	0.66056	D	0.02	.	15.3138	0.74056	0.0:0.0:0.0:1.0	.	798;798;976;472;472;472;798;472	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	V	472;976;798;798;472;798;798;798;472;838;472;472	ENSP00000244364:E472V;ENSP00000359790:E976V;ENSP00000359805:E798V;ENSP00000400883:E798V;ENSP00000393645:E472V;ENSP00000307959:E798V;ENSP00000359824:E798V;ENSP00000354508:E798V;ENSP00000404924:E472V;ENSP00000431030:E838V;ENSP00000359801:E472V;ENSP00000431003:E472V	ENSP00000244364:E472V	E	-	2	0	DST	56609348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.860000	0.86993	2.201000	0.70794	0.472000	0.43445	GAG		0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56501389	T	A	56501389	3	1	566	1	0	0	0	0	1	0	0	0	4785	1551	54	5	19044	5	DST	6	56501389	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08		56501389	114613678	20	30605											
CASP8AP2	9994	broad.mit.edu	37	6	90573113	90573113	+	RNA	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr6:90573113T>A	ENST00000551025.1	+	0	3122									caspase 8 associated protein 2									p.L562*(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATGAAAAAATTGAACTTAACT	0.358																																					Colon(187;1656 2025 17045 31481 39901)											1	Substitution - Nonsense(1)	kidney(1)											28	29	29					6																	90573113		1815	4075	5890			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573113T>A				Nonsense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.358	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		A	90573113	T	A	90573113	1	1	566	0	1	0	0	0	0	0	0	0	2680	1821	63	5		5	CASP8AP2	6	90573113	RNA	SNP	T	TCGA-CW-6087-01A-11D-1669-08	34071724	90573113	80541954	21	30606											
POM121L12	285877	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	53103958	53103958	+	Silent	SNP	C	C	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr7:53103958C>T	ENST00000408890.4	+	1	610	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	198								p.F198F(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGTTGTGGTTCGAGGTCTCAG	0.667																																																2	Substitution - coding silent(2)	prostate(1)|kidney(1)											49	58	55					7																	53103958		1981	4145	6126	SO:0001819	synonymous_variant	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.594C>T	7.37:g.53103958C>T			Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																				0.667	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		T	53103958	C	T	53103958	2	4	566	1	0	0	0	0	0	0	0	1	12243	883	31	1		1	POM121L12	7	53103958	Silent	SNP	C	TCGA-CW-6087-01A-11D-1669-08		53103958	106034705	22	30607											
CUX1	1523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	101925178	101925178	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr7:101925178T>G	ENST00000437600.4	+	21	2214	c.1862T>G	c.(1861-1863)tTc>tGc	p.F621C	CUX1_ENST00000547394.2_Missense_Mutation_p.F607C|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.F577C|CUX1_ENST00000292538.4_Missense_Mutation_p.F623C|CUX1_ENST00000393824.3_Missense_Mutation_p.F584C	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.F623C(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATCGGCTTCTTCTACACACTG	0.647																																																1	Substitution - Missense(1)	kidney(1)											103	75	85					7																	101925178		2203	4300	6503	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1862T>G	7.37:g.101925178T>G	ENSP00000414091:p.Phe621Cys		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240700	0.79912	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	3.68	3.68	0.42216	CASP, C-terminal (1);	.	.	.	.	T	0.49898	0.1584	M	0.66439	2.03	0.36163	D	0.848221	D;D;D;D;D	0.71674	0.97;0.986;0.996;0.998;0.998	P;P;P;D;D	0.64877	0.739;0.823;0.889;0.912;0.93	T	0.63216	-0.6687	9	0.72032	D	0.01	.	12.6817	0.56926	0.0:0.0:0.0:1.0	.	584;577;607;621;623	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	C	623;607;577;621	ENSP00000292538:F623C;ENSP00000449371:F607C;ENSP00000409745:F577C;ENSP00000414091:F621C	ENSP00000292538:F623C	F	+	2	0	CUX1	101711898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.236000	0.78154	1.472000	0.48140	0.454000	0.30748	TTC		0.647	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		G	101925178	T	G	101925178	3	3	566	1	0	0	0	0	1	0	0	0	4066	1783	62	5	5320	5	CUX1	7	101925178	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08	48821220	101925178	57213485	23	30608											
MET	4233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116415115	116415115	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr7:116415115T>A	ENST00000318493.6	+	15	3450	c.3263T>A	c.(3262-3264)gTg>gAg	p.V1088E	MET_ENST00000397752.3_Missense_Mutation_p.V1070E|MET_ENST00000539704.1_5'Flank			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V1088E(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGCATGTAGTGATTGGGCCC	0.433			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)											174	172	172					7																	116415115		2077	4220	6297	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3263T>A	7.37:g.116415115T>A	ENSP00000317272:p.Val1088Glu		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885631	0.91814	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000454623	T;T	0.73681	-0.77;-0.77	5.62	5.62	0.85841	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84469	0.5479	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.994;0.989	D	0.86091	0.1550	10	0.87932	D	0	-15.0307	16.1067	0.81230	0.0:0.0:0.0:1.0	.	1088;1070	P08581-2;P08581	.;MET_HUMAN	E	1070;1088;155	ENSP00000380860:V1070E;ENSP00000317272:V1088E	ENSP00000317272:V1088E	V	+	2	0	MET	116202351	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.310000	0.78947	2.255000	0.74692	0.533000	0.62120	GTG		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116415115	T	A	116415115	3	1	566	1	0	0	0	0	1	0	0	0	9487	1696	59	5	3317	5	MET	7	116415115	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08	14489937	116415115	42723548	24	30609											
GALNT11	63917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151807716	151807716	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr7:151807716G>C	ENST00000434507.1	+	9	1503	c.1066G>C	c.(1066-1068)Gaa>Caa	p.E356Q	GALNT11_ENST00000452146.2_Missense_Mutation_p.E275Q|GALNT11_ENST00000430044.2_Missense_Mutation_p.E356Q|GALNT11_ENST00000320311.2_Missense_Mutation_p.E356Q			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	356	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E356Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGAAAATTTGGAAATATCATT	0.353																																																1	Substitution - Missense(1)	kidney(1)											155	161	159					7																	151807716		2203	4300	6503	SO:0001583	missense	63917			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1066G>C	7.37:g.151807716G>C	ENSP00000416787:p.Glu356Gln		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755483	0.89843	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97090	0.9049	H	0.98996	4.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.99226	1.0880	10	0.87932	D	0	.	18.2445	0.89981	0.0:0.0:1.0:0.0	.	275;356;356	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	Q	356;275;356;356;356	ENSP00000395122:E356Q;ENSP00000393399:E275Q;ENSP00000416787:E356Q;ENSP00000315835:E356Q	ENSP00000315835:E356Q	E	+	1	0	GALNT11	151438649	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	9.787000	0.99055	2.293000	0.77203	0.561000	0.74099	GAA		0.353	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		C	151807716	G	C	151807716	3	2	566	1	0	0	0	0	1	0	0	0	6211	1175	41	4	1088	4	GALNT11	7	151807716	Missense_Mutation	SNP	G	TCGA-CW-6087-01A-11D-1669-08	35392601	151807716	7330947	25	30610											
MSR1	4481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	16032735	16032735	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr8:16032735C>G	ENST00000262101.5	-	3	299	c.178G>C	c.(178-180)Gtg>Ctg	p.V60L	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.V60L|MSR1_ENST00000350896.3_Missense_Mutation_p.V60L|MSR1_ENST00000445506.2_Missense_Mutation_p.V78L|MSR1_ENST00000355282.2_Missense_Mutation_p.V60L			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	60					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.V60L(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ACTGCAAACACGAGGAGGTAA	0.423																																																2	Substitution - Missense(2)	kidney(2)											143	137	139					8																	16032735		2203	4300	6503	SO:0001583	missense	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.178G>C	8.37:g.16032735C>G	ENSP00000262101:p.Val60Leu		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833716	0.71258	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998;ENST00000518960	D;D;D;D;D;T	0.92595	-2.65;-2.3;-2.31;-2.65;-3.07;1.15	5.34	4.45	0.53987	Macrophage scavenger receptor (1);	0.127702	0.35436	N	0.003219	D	0.94935	0.8362	M	0.73598	2.24	0.33839	D	0.631156	D;D;D;D	0.76494	0.983;0.99;0.999;0.983	P;P;D;P	0.81914	0.46;0.759;0.995;0.46	D	0.96183	0.9132	10	0.72032	D	0.01	.	10.5766	0.45231	0.0:0.9061:0.0:0.0939	.	78;60;60;60	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	L	60;60;78;60;60;60	ENSP00000262100:V60L;ENSP00000262101:V60L;ENSP00000405453:V78L;ENSP00000347430:V60L;ENSP00000371428:V60L;ENSP00000427905:V60L	ENSP00000262101:V60L	V	-	1	0	MSR1	16077106	0.935000	0.31712	0.988000	0.46212	0.981000	0.71138	1.445000	0.35079	2.658000	0.90341	0.650000	0.86243	GTG		0.423	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			G	16032735	C	G	16032735	3	3	566	1	0	0	0	0	1	0	0	0	9888	536	19	4	1257	4	MSR1	8	16032735	Missense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08		16032735	130331287	26	30611											
PHYHIP	9796	broad.mit.edu;hgsc.bcm.edu	37	8	22084409	22084409	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr8:22084409A>G	ENST00000321613.3	-	4	751	c.295T>C	c.(295-297)Tac>Cac	p.Y99H	PHYHIP_ENST00000454243.2_Missense_Mutation_p.Y99H	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	99	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.Y99H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GACACCAGGTACTCCCCATCG	0.652																																																1	Substitution - Missense(1)	kidney(1)											93	112	106					8																	22084409		2177	4250	6427	SO:0001583	missense	9796			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.295T>C	8.37:g.22084409A>G	ENSP00000320017:p.Tyr99His		D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657607	0.88154	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000523252	T;T	0.41400	1.0;1.0	5.62	5.62	0.85841	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.47190	1.495	0.49299	D	0.999772	D	0.63880	0.993	P	0.62740	0.906	T	0.54516	-0.8282	10	0.48119	T	0.1	-40.8009	14.8168	0.70041	1.0:0.0:0.0:0.0	.	99	Q92561	PHYIP_HUMAN	H	99;99;51	ENSP00000320017:Y99H;ENSP00000415491:Y99H	ENSP00000320017:Y99H	Y	-	1	0	PHYHIP	22140354	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.297000	0.96120	2.138000	0.66242	0.533000	0.62120	TAC		0.652	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		G	22084409	A	G	22084409	3	3	566	1	0	0	0	0	1	0	0	0	11868	391	14	3	709	3	PHYHIP	8	22084409	Missense_Mutation	SNP	A	TCGA-CW-6087-01A-11D-1669-08	6051674	22084409	124279613	27	30612											
SGK3	23678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67748020	67748020	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr8:67748020T>C	ENST00000396596.1	+	9	762	c.548T>C	c.(547-549)cTg>cCg	p.L183P	SGK3_ENST00000522398.1_Missense_Mutation_p.L183P|SGK3_ENST00000521198.2_Missense_Mutation_p.L183P|SGK3_ENST00000345714.4_Missense_Mutation_p.L183P|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L183P|SGK3_ENST00000520976.1_Missense_Mutation_p.L183P	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	183	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.L116P(1)|p.L183P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAACGGAAACTGGATGGAAAA	0.289																																																2	Substitution - Missense(2)	kidney(2)											46	53	51					8																	67748020		2199	4293	6492	SO:0001583	missense	23678				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.548T>C	8.37:g.67748020T>C	ENSP00000379842:p.Leu183Pro		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.437920	0.43326	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396;ENST00000521152	T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.63	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.469814	0.22663	N	0.057179	T	0.45677	0.1354	N	0.03948	-0.315	0.35790	D	0.822326	B;B	0.29253	0.201;0.239	B;B	0.43623	0.3;0.425	T	0.56709	-0.7934	9	0.38643	T	0.18	.	7.5338	0.27697	0.0:0.0718:0.1417:0.7865	.	183;183	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	P	183;183;183;183;147;183;183;183;65;80	ENSP00000429022:L183P;ENSP00000430463:L183P;ENSP00000430256:L183P;ENSP00000430691:L183P;ENSP00000379842:L183P;ENSP00000331816:L183P;ENSP00000428529:L65P;ENSP00000429565:L80P	ENSP00000262211:L183P	L	+	2	0	SGK3	67910574	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.875000	0.39578	0.977000	0.38444	0.529000	0.55759	CTG		0.289	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			C	67748020	T	C	67748020	3	2	566	1	0	0	0	0	1	0	0	0	14218	1580	55	3	578	3	SGK3	8	67748020	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08	45663611	67748020	78616002	28	30613											
PABPC1	26986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	101724674	101724674	+	Silent	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr8:101724674A>G	ENST00000318607.5	-	7	2016	c.888T>C	c.(886-888)ctT>ctC	p.L296L	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Silent_p.L251L|PABPC1_ENST00000522387.1_Silent_p.L264L	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	296	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.L296L(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTTCACATAAAGATTAACAC	0.338																																																1	Substitution - coding silent(1)	kidney(1)											100	107	105					8																	101724674		2202	4295	6497	SO:0001819	synonymous_variant	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.888T>C	8.37:g.101724674A>G			Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	A	9.112	1.006866	0.19199	.	.	ENSG00000070756	ENST00000519100	.	.	.	5.65	1.7	0.24286	.	.	.	.	.	T	0.43322	0.1242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26087	-1.0113	4	.	.	.	.	1.9957	0.03455	0.5927:0.1232:0.1433:0.1408	.	.	.	.	S	165	.	.	F	-	2	0	PABPC1	101793850	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.708000	0.25719	0.495000	0.27882	0.533000	0.62120	TTT		0.338	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		G	101724674	A	G	101724674	2	3	566	1	0	0	0	0	0	0	0	1	11365	1	1	3		3	PABPC1	8	101724674	Silent	SNP	A	TCGA-CW-6087-01A-11D-1669-08	33976654	101724674	44639348	29	30614											
ADCY8	114	broad.mit.edu;hgsc.bcm.edu	37	8	131880119	131880119	+	Missense_Mutation	SNP	G	G	T	rs371333986		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr8:131880119G>T	ENST00000286355.5	-	9	4275	c.2183C>A	c.(2182-2184)gCa>gAa	p.A728E	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	728					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A728E(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTTTGTATTGCCGTGATAAA	0.358										HNSCC(32;0.087)																																						1	Substitution - Missense(1)	kidney(1)											96	87	90					8																	131880119		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2183C>A	8.37:g.131880119G>T	ENSP00000286355:p.Ala728Glu			Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974339	0.74246	.	.	ENSG00000155897	ENST00000286355	T	0.38077	1.16	5.9	5.9	0.94986	.	0.160384	0.56097	D	0.000029	T	0.31040	0.0784	L	0.39898	1.24	0.80722	D	1	P	0.44195	0.828	B	0.36092	0.217	T	0.04855	-1.0922	10	0.40728	T	0.16	.	17.776	0.88508	0.0:0.0:1.0:0.0	.	728	P40145	ADCY8_HUMAN	E	728	ENSP00000286355:A728E	ENSP00000286355:A728E	A	-	2	0	ADCY8	131949301	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.006000	0.76329	2.806000	0.96561	0.655000	0.94253	GCA		0.358	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			T	131880119	G	T	131880119	3	4	566	1	0	0	0	0	1	0	0	0	300	1319	46	4	1612	4	ADCY8	8	131880119	Missense_Mutation	SNP	G	TCGA-CW-6087-01A-11D-1669-08	30155445	131880119	14483903	30	30615											
PRKACG	5568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	71628711	71628711	+	Missense_Mutation	SNP	C	C	T	rs138606760		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr9:71628711C>T	ENST00000377276.2	-	1	328	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.D100N(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACGGAAAGTCGATCGCCTGC	0.557																																					Esophageal Squamous(110;2236 2623 32146)											1	Substitution - Missense(1)	kidney(1)						C	ASN/ASP	0,4406		0,0,2203	257	180	206		298	-3.2	0	9	dbSNP_134	206	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRKACG	NM_002732.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	100/352	71628711	1,13005	2203	4300	6503	SO:0001583	missense	5568			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.298G>A	9.37:g.71628711C>T	ENSP00000366488:p.Asp100Asn		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.465592	0.01053	0.0	1.16E-4	ENSG00000165059	ENST00000377276	T	0.07444	3.19	1.61	-3.23	0.05109	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.412140	0.06091	N	0.663632	T	0.03434	0.0099	N	0.11427	0.14	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.42865	-0.9426	10	0.02654	T	1	.	6.5417	0.22385	0.0:0.4848:0.0:0.5152	.	100	P22612	KAPCG_HUMAN	N	100	ENSP00000366488:D100N	ENSP00000366488:D100N	D	-	1	0	PRKACG	70818531	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.163000	0.16520	-1.299000	0.02344	-1.264000	0.01445	GAC		0.557	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			T	71628711	C	T	71628711	3	4	566	1	0	0	0	0	1	0	0	0	12504	884	31	1	761	1	PRKACG	9	71628711	Missense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08		71628711	69584720	31	30616											
AGTPBP1	23287	broad.mit.edu;hgsc.bcm.edu	37	9	88193989	88193989	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr9:88193989T>C	ENST00000357081.3	-	24	3332	c.3188A>G	c.(3187-3189)cAt>cGt	p.H1063R	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.H1023R|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.H1075R			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1063					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.H1023R(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TGGGGCGATATGGCTCAGTAT	0.333																																																1	Substitution - Missense(1)	kidney(1)											92	85	88					9																	88193989		2203	4300	6503	SO:0001583	missense	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3188A>G	9.37:g.88193989T>C	ENSP00000349592:p.His1063Arg		B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	T	13.51	2.259201	0.39995	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.09911	2.93;2.93;2.93	5.52	4.39	0.52855	Peptidase M14, carboxypeptidase A (1);	0.211812	0.50627	D	0.000117	T	0.10594	0.0259	L	0.41492	1.28	0.80722	D	1	B;B;B	0.20550	0.01;0.046;0.01	B;B;B	0.23716	0.017;0.048;0.037	T	0.07888	-1.0749	10	0.40728	T	0.16	-15.4196	11.2195	0.48846	0.0:0.0714:0.0:0.9286	.	1075;1063;1023	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	R	1063;1023;1075	ENSP00000349592:H1063R;ENSP00000365251:H1023R;ENSP00000365277:H1075R	ENSP00000349592:H1063R	H	-	2	0	AGTPBP1	87383809	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.264000	0.72527	1.064000	0.40671	0.528000	0.53228	CAT		0.333	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		C	88193989	T	C	88193989	3	2	566	1	0	0	0	0	1	0	0	0	400	1464	51	3	504	3	AGTPBP1	9	88193989	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08	16565278	88193989	53019442	32	30617											
CRAT	1384	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131864768	131864768	+	Nonsense_Mutation	SNP	G	G	A	rs567401147		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr9:131864768G>A	ENST00000318080.2	-	5	835	c.541C>T	c.(541-543)Cga>Tga	p.R181*	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	181					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)	p.R181*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCCGGCACTCGGCAGGAGGAC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18620	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Nonsense(1)	kidney(1)											235	221	225					9																	131864768		2203	4300	6503	SO:0001587	stop_gained	1384			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.541C>T	9.37:g.131864768G>A	ENSP00000315013:p.Arg181*		Q5T952|Q9BW16	Nonsense_Mutation	SNP	ENST00000318080.2	37	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261523	0.95368	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	.	.	.	5.33	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.5668	14.244	0.65975	0.0:0.0:0.8498:0.1502	.	.	.	.	X	181	.	ENSP00000315013:R181X	R	-	1	2	CRAT	130904589	1.000000	0.71417	0.974000	0.42286	0.345000	0.29048	9.770000	0.98971	1.203000	0.43233	0.556000	0.70494	CGA		0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			A	131864768	G	A	131864768	4	1	566	1	0	0	0	0	0	1	0	0	3849	1124	39	1	1379	1	CRAT	9	131864768	Nonsense_Mutation	SNP	G	TCGA-CW-6087-01A-11D-1669-08	43670779	131864768	9348663	33	30618											
ANKRD30A	91074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	37508065	37508065	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr10:37508065A>T	ENST00000602533.1	+	34	3356	c.3257A>T	c.(3256-3258)aAg>aTg	p.K1086M	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K1086M|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K1205M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1142					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K1086M(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTAAAAGAAAAGAATGCTGAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											114	114	114					10																	37508065		1810	4065	5875	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3257A>T	10.37:g.37508065A>T	ENSP00000473551:p.Lys1086Met		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	a	10.52	1.373548	0.24857	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06142	3.34;3.34	2.64	2.64	0.31445	.	.	.	.	.	T	0.19765	0.0475	M	0.65677	2.01	0.27780	N	0.943206	D	0.71674	0.998	D	0.79784	0.993	T	0.02093	-1.1215	9	0.87932	D	0	.	8.514	0.33235	1.0:0.0:0.0:0.0	.	1142	Q9BXX3	AN30A_HUMAN	M	1086;1205	ENSP00000354432:K1086M;ENSP00000363792:K1205M	ENSP00000354432:K1086M	K	+	2	0	ANKRD30A	37548071	1.000000	0.71417	0.591000	0.28745	0.073000	0.16967	3.891000	0.56227	1.077000	0.40990	0.234000	0.17832	AAG		0.353	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		T	37508065	A	T	37508065	3	4	566	1	0	0	0	0	1	0	0	0	658	72	3	5	3391	5	ANKRD30A	10	37508065	Missense_Mutation	SNP	A	TCGA-CW-6087-01A-11D-1669-08		37508065	98026682	34	30619											
POLL	27343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103345853	103345853	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr10:103345853T>A	ENST00000370162.3	-	3	670	c.176A>T	c.(175-177)gAa>gTa	p.E59V	DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000339310.3_Intron|POLL_ENST00000436284.2_5'UTR|DPCD_ENST00000370151.4_5'Flank|POLL_ENST00000370169.1_Missense_Mutation_p.E59V|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000299206.4_Missense_Mutation_p.E59V|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370172.1_5'UTR|POLL_ENST00000370158.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	59	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.E59V(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CTCAAAGAGTTCTGCCCGGGC	0.552								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	kidney(1)											42	40	41					10																	103345853		2203	4300	6503	SO:0001583	missense	27343			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.176A>T	10.37:g.103345853T>A	ENSP00000359181:p.Glu59Val		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920008	0.73098	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000426919;ENST00000413344;ENST00000430045	T;T;T;T;T;T;D	0.82893	0.22;0.22;0.22;0.22;0.22;0.22;-1.66	5.59	5.59	0.84812	BRCT (2);	0.110470	0.64402	D	0.000009	D	0.88908	0.6565	M	0.65975	2.015	0.80722	D	1	D;D	0.69078	0.988;0.997	P;P	0.60789	0.723;0.879	D	0.90055	0.4152	10	0.72032	D	0.01	-19.46	15.7746	0.78204	0.0:0.0:0.0:1.0	.	59;59	Q9UGP5;A8K860	DPOLL_HUMAN;.	V	59;59;59;59;59;59;70;59;59	ENSP00000299206:E59V;ENSP00000359188:E59V;ENSP00000359181:E59V;ENSP00000400676:E59V;ENSP00000411678:E70V;ENSP00000400517:E59V;ENSP00000414293:E59V	ENSP00000299206:E59V	E	-	2	0	POLL	103335843	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.688000	0.68227	2.140000	0.66376	0.459000	0.35465	GAA		0.552	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		A	103345853	T	A	103345853	3	1	566	1	0	0	0	0	1	0	0	0	12207	1783	62	5	1579	5	POLL	10	103345853	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08	65837788	103345853	32188894	35	30620											
ESRRA	2101	broad.mit.edu;hgsc.bcm.edu	37	11	64082235	64082235	+	Silent	SNP	G	G	A	rs372946185		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr11:64082235G>A	ENST00000405666.1	+	5	828	c.594G>A	c.(592-594)gtG>gtA	p.V198V	ESRRA_ENST00000000442.6_Silent_p.V198V|ESRRA_ENST00000406310.1_Silent_p.V197V	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	198					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V198V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						ATGCACTGGTGTCTCATCTGC	0.587																																																1	Substitution - coding silent(1)	kidney(1)						G		1,4173		0,1,2086	69	71	71		594	1	1	11		71	0,8460		0,0,4230	no	coding-synonymous	ESRRA	NM_004451.3		0,1,6316	AA,AG,GG		0.0,0.024,0.0079		198/424	64082235	1,12633	2087	4230	6317	SO:0001819	synonymous_variant	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"Nuclear hormone receptors"	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.594G>A	11.37:g.64082235G>A			Q14514	Silent	SNP	ENST00000405666.1	37	CCDS41667.1																																																																																				0.587	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		A	64082235	G	A	64082235	2	1	566	1	0	0	0	0	0	0	0	1	5262	1364	48	2		2	ESRRA	11	64082235	Silent	SNP	G	TCGA-CW-6087-01A-11D-1669-08		64082235	70924281	36	30621											
CPT1A	1374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68575043	68575043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr11:68575043C>T	ENST00000265641.5	-	4	499	c.345G>A	c.(343-345)tgG>tgA	p.W115*	CPT1A_ENST00000540367.1_Nonsense_Mutation_p.W115*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.W115*|CPT1A_ENST00000376618.2_Nonsense_Mutation_p.W115*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	115					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.W115*(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TGAGGGCCACCCACAGGCCGG	0.602																																																1	Substitution - Nonsense(1)	kidney(1)											178	130	146					11																	68575043		2200	4294	6494	SO:0001587	stop_gained	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.345G>A	11.37:g.68575043C>T	ENSP00000265641:p.Trp115*		Q8TCU0|Q9BWK0	Nonsense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388405	0.82902	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	X	115	.	ENSP00000265641:W115X	W	-	3	0	CPT1A	68331619	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	7.575000	0.82447	2.873000	0.98535	0.561000	0.74099	TGG		0.602	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		T	68575043	C	T	68575043	4	4	566	1	0	0	0	0	0	1	0	0	3833	624	22	2	2080	2	CPT1A	11	68575043	Nonsense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08	4492808	68575043	66431473	37	30622											
NARS2	79731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	78176959	78176959	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr11:78176959A>C	ENST00000281038.5	-	11	1502	c.1127T>G	c.(1126-1128)tTc>tGc	p.F376C	NARS2_ENST00000528850.1_Missense_Mutation_p.F149C	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	376					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.F376C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CCTCATGTAGAAAGGCTTGAG	0.423																																																1	Substitution - Missense(1)	kidney(1)											140	131	134					11																	78176959		2200	4292	6492	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1127T>G	11.37:g.78176959A>C	ENSP00000281038:p.Phe376Cys		G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991338	0.54041	.	.	ENSG00000137513	ENST00000281038;ENST00000528850;ENST00000529880	D;D;D	0.87729	-2.17;-2.17;-2.29	4.59	4.59	0.56863	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.047796	0.85682	D	0.000000	D	0.96106	0.8731	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97388	0.9987	10	0.87932	D	0	-13.6652	13.3723	0.60719	1.0:0.0:0.0:0.0	.	376	Q96I59	SYNM_HUMAN	C	376;149;232	ENSP00000281038:F376C;ENSP00000432635:F149C;ENSP00000432240:F232C	ENSP00000281038:F376C	F	-	2	0	NARS2	77854607	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.273000	0.89887	2.055000	0.61198	0.482000	0.46254	TTC		0.423	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		C	78176959	A	C	78176959	3	2	566	1	0	0	0	0	1	0	0	0	10173	246	9	5	322	5	NARS2	11	78176959	Missense_Mutation	SNP	A	TCGA-CW-6087-01A-11D-1669-08	9601916	78176959	56829557	38	30623											
FARP1	10160	broad.mit.edu	37	13	99083408	99083408	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr13:99083408G>T	ENST00000319562.6	+	18	2282	c.2017G>T	c.(2017-2019)Gtg>Ttg	p.V673L	FARP1_ENST00000376586.2_Missense_Mutation_p.V673L|FARP1_ENST00000595437.1_Missense_Mutation_p.V673L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	673	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V673L(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCTGCAGAAGGTGTGTTACCT	0.602																																																2	Substitution - Missense(2)	kidney(2)											43	43	43					13																	99083408		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2017G>T	13.37:g.99083408G>T	ENSP00000322926:p.Val673Leu		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194221	0.78902	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.62639	0.01;0.01	5.72	5.72	0.89469	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.74258	2.255	0.80722	D	1	B;P	0.39903	0.02;0.694	B;P	0.46452	0.076;0.517	T	0.75291	-0.3369	10	0.72032	D	0.01	.	19.8737	0.96861	0.0:0.0:1.0:0.0	.	673;673	Q9Y4F1;C9JME2	FARP1_HUMAN;.	L	673	ENSP00000365771:V673L;ENSP00000322926:V673L	ENSP00000322926:V673L	V	+	1	0	FARP1	97881409	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	9.334000	0.96470	2.693000	0.91896	0.650000	0.86243	GTG		0.602	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		T	99083408	G	T	99083408	3	4	566	1	0	0	0	0	1	0	0	0	5678	1261	44	4	2306	4	FARP1	13	99083408	Missense_Mutation	SNP	G	TCGA-CW-6087-01A-11D-1669-08		99083408	16086470	39	30624											
SAV1	60485	broad.mit.edu	37	14	51131954	51131954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr14:51131954C>A	ENST00000324679.4	-	2	841	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	160					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E160*(1)		breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TGGTTGTATTCATAATATCTG	0.368																																																1	Substitution - Nonsense(1)	kidney(1)											29	30	30					14																	51131954		2197	4282	6479	SO:0001587	stop_gained	60485			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"WW domain-containing adaptor 45"	607203	"salvador homolog 1 (Drosophila)"			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.478G>T	14.37:g.51131954C>A	ENSP00000324729:p.Glu160*		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Nonsense_Mutation	SNP	ENST00000324679.4	37	CCDS9701.1	.	.	.	.	.	.	.	.	.	.	C	40	8.053461	0.98629	.	.	ENSG00000151748	ENST00000555720;ENST00000324679;ENST00000535862;ENST00000553731	.	.	.	5.29	5.29	0.74685	.	0.144333	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-2.3926	17.9319	0.88999	0.0:1.0:0.0:0.0	.	.	.	.	X	92;160;127;44	.	ENSP00000324729:E160X	E	-	1	0	SAV1	50201704	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.441000	0.80485	2.467000	0.83353	0.563000	0.77884	GAA		0.368	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			A	51131954	C	A	51131954	4	1	566	1	0	0	0	0	0	1	0	0	13862	835	29	4	689	4	SAV1	14	51131954	Nonsense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08		51131954	56217586	40	30625											
AHSA1	10598	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77929008	77929008	+	Silent	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr14:77929008T>C	ENST00000216479.3	+	4	538	c.378T>C	c.(376-378)gaT>gaC	p.D126D	AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Silent_p.D126D	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	126					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)	p.D126D(1)		endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TTGCCAAAGATGAGCCTGACA	0.458																																																1	Substitution - coding silent(1)	kidney(1)											124	115	118					14																	77929008		2203	4300	6503	SO:0001819	synonymous_variant	10598			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.378T>C	14.37:g.77929008T>C			B2R9L2|B4DUR9|Q96IL6|Q9P060	Silent	SNP	ENST00000216479.3	37	CCDS9863.1	.	.	.	.	.	.	.	.	.	.	T	9.682	1.149637	0.21288	.	.	ENSG00000100591	ENST00000553374;ENST00000555729	.	.	.	5.61	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.9135	8.9432	0.35742	0.0:0.1459:0.0:0.8541	.	.	.	.	R	72;45	.	.	X	+	1	0	AHSA1	76998761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.161000	0.31773	0.914000	0.36822	0.455000	0.32223	TGA		0.458	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		C	77929008	T	C	77929008	2	2	566	1	0	0	0	0	0	0	0	1	418	1461	51	3		3	AHSA1	14	77929008	Silent	SNP	T	TCGA-CW-6087-01A-11D-1669-08	26797054	77929008	29420532	41	30626											
MESP1	55897	broad.mit.edu;hgsc.bcm.edu	37	15	90293454	90293454	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr15:90293454A>T	ENST00000300057.4	-	2	806	c.728T>A	c.(727-729)cTt>cAt	p.L243H	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 1	243					cardiac atrium formation (GO:0003210)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell differentiation (GO:0055007)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cardiac ventricle formation (GO:0003211)|cardioblast anterior-lateral migration (GO:0003259)|cardioblast migration to the midline involved in heart field formation (GO:0060975)|embryonic heart tube morphogenesis (GO:0003143)|endothelial cell differentiation (GO:0045446)|gastrulation (GO:0007369)|growth involved in heart morphogenesis (GO:0003241)|heart looping (GO:0001947)|lateral mesoderm development (GO:0048368)|mesodermal cell migration (GO:0008078)|negative regulation of endodermal cell fate specification (GO:0042664)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|positive regulation of hepatocyte differentiation (GO:0070368)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of Notch signaling pathway involved in heart induction (GO:0035481)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|signal transduction involved in regulation of gene expression (GO:0023019)|sinoatrial node cell differentiation (GO:0060921)|sinus venosus morphogenesis (GO:0003236)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L243H(1)		NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GTCGCCCGGAAGGAGCTGTAG	0.662																																																1	Substitution - Missense(1)	kidney(1)											63	63	63					15																	90293454		2200	4299	6499	SO:0001583	missense	55897				CCDS10355.1	15q26.1	2014-06-30	2014-06-30		ENSG00000166823	ENSG00000166823		"Basic helix-loop-helix proteins"	29658	protein-coding gene	gene with protein product		608689	"mesoderm posterior 1 homolog (mouse)"			8787751, 11578861	Standard	NM_018670		Approved	MGC10676, bHLHc5	uc002bol.3	Q9BRJ9	OTTHUMG00000149810	ENST00000300057.4:c.728T>A	15.37:g.90293454A>T	ENSP00000300057:p.Leu243His		Q9NSF1|Q9NSF2	Missense_Mutation	SNP	ENST00000300057.4	37	CCDS10355.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.266023	0.23136	.	.	ENSG00000166823	ENST00000300057	D	0.82081	-1.57	4.18	2.88	0.33553	.	.	.	.	.	T	0.72011	0.3408	L	0.36672	1.1	0.23445	N	0.997668	P	0.46277	0.875	B	0.38327	0.271	T	0.63532	-0.6616	9	0.87932	D	0	-2.9697	6.1013	0.20049	0.8663:0.0:0.1337:0.0	.	243	Q9BRJ9	MESP1_HUMAN	H	243	ENSP00000300057:L243H	ENSP00000300057:L243H	L	-	2	0	MESP1	88094458	0.008000	0.16893	0.745000	0.31077	0.015000	0.08874	0.636000	0.24644	0.537000	0.28751	0.323000	0.21402	CTT		0.662	MESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313421.1	NM_018670		T	90293454	A	T	90293454	3	4	566	1	0	0	0	0	1	0	0	0	9484	72	3	5	82	5	MESP1	15	90293454	Missense_Mutation	SNP	A	TCGA-CW-6087-01A-11D-1669-08		90293454	12237938	42	30627											
ZNF624	57547	hgsc.bcm.edu;ucsc.edu	37	17	16527779	16527779	+	Missense_Mutation	SNP	C	C	G	rs142158380	byFrequency	TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr17:16527779C>G	ENST00000311331.7	-	6	512	c.421G>C	c.(421-423)Gct>Cct	p.A141P		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCAGAAATAGCCTTTGTTCGT	0.428													C|||	9	0.00179712	0.0061	0.0014	5008	,	,		17486	0.0		0.0	False		,,,				2504	0.0				NSCLC(186;1023 2134 13330 38202 39800)											0								C	PRO/ALA	18,4388	25.3+/-52.1	0,18,2185	105	100	102		421	-1.3	0	17	dbSNP_134	102	0,8600		0,0,4300	no	missense	ZNF624	NM_020787.3	27	0,18,6485	GG,GC,CC		0.0,0.4085,0.1384	benign	141/866	16527779	18,12988	2203	4300	6503	SO:0001583	missense	57547			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.421G>C	17.37:g.16527779C>G	ENSP00000310472:p.Ala141Pro		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	CCDS11180.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	C	0.120	-1.126563	0.01770	0.004085	0.0	ENSG00000197566	ENST00000311331	T	0.05139	3.49	2.95	-1.34	0.09143	.	.	.	.	.	T	0.01800	0.0057	N	0.03608	-0.345	0.09310	N	1	B	0.22604	0.072	B	0.17433	0.018	T	0.45789	-0.9237	9	0.33940	T	0.23	.	7.486	0.27432	0.0:0.5656:0.0:0.4344	.	141	Q9P2J8	ZN624_HUMAN	P	141	ENSP00000310472:A141P	ENSP00000310472:A141P	A	-	1	0	ZNF624	16468504	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.153000	0.10144	-0.239000	0.09710	-0.136000	0.14681	GCT		0.428	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		G	16527779	C	G	16527779	3	3	566	1	0	0	0	0	1	0	0	0	18053	739	26	4	2180	4	ZNF624	17	16527779	Missense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08		16527779	64667431	43	30628											
TOB1	10140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48940954	48940954	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr17:48940954A>G	ENST00000268957.3	-	3	853	c.425T>C	c.(424-426)aTa>aCa	p.I142T	TOB1_ENST00000499247.2_Missense_Mutation_p.I142T|TOB1_ENST00000509385.1_5'UTR	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	142					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)	p.I142T(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGGGTCACTTATGGGCATAAA	0.483											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(144;643 1919 24513 29423 40686)											1	Substitution - Missense(1)	kidney(1)											108	94	99					17																	48940954		2203	4300	6503	SO:0001583	missense	10140			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.425T>C	17.37:g.48940954A>G	ENSP00000268957:p.Ile142Thr	958	B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	ENST00000268957.3	37	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790640	0.50102	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.52295	0.67;0.67	5.55	5.55	0.83447	.	0.047210	0.85682	D	0.000000	T	0.70570	0.3239	M	0.83223	2.63	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.75886	-0.3159	10	0.87932	D	0	.	15.7075	0.77594	1.0:0.0:0.0:0.0	.	142	P50616	TOB1_HUMAN	T	142	ENSP00000427695:I142T;ENSP00000268957:I142T	ENSP00000268957:I142T	I	-	2	0	TOB1	46295953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.117000	0.64856	0.533000	0.62120	ATA		0.483	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			G	48940954	A	G	48940954	3	3	566	1	0	0	0	0	1	0	0	0	16352	449	16	3	616	3	TOB1	17	48940954	Missense_Mutation	SNP	A	TCGA-CW-6087-01A-11D-1669-08	32413175	48940954	32254256	44	30629											
MGAT5B	146664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74936814	74936814	+	Splice_Site	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr17:74936814G>A	ENST00000569840.2	+	15	2306	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M	MGAT5B_ENST00000301618.4_Splice_Site_p.V576M|MGAT5B_ENST00000428789.2_Splice_Site_p.V587M	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	578					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.V576M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCTTGCCAGGTGTTCTCCCA	0.557																																																1	Substitution - Missense(1)	kidney(1)											88	81	84					17																	74936814		2203	4300	6503	SO:0001630	splice_region_variant	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1732-1G>A	17.37:g.74936814G>A			Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850225	0.51270	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.49432	0.78;0.78	4.09	3.1	0.35709	.	0.068493	0.56097	D	0.000021	T	0.64204	0.2577	M	0.68593	2.085	0.47123	D	0.999325	P;D	0.76494	0.665;0.999	B;D	0.83275	0.444;0.996	T	0.63541	-0.6614	9	.	.	.	-17.3457	12.8325	0.57754	0.0:0.1654:0.8346:0.0	.	587;576	Q3V5L5-2;Q3V5L5-5	.;.	M	576;587	ENSP00000301618:V576M;ENSP00000391227:V587M	.	V	+	1	0	MGAT5B	72448409	1.000000	0.71417	0.997000	0.53966	0.343000	0.28985	5.425000	0.66470	0.705000	0.31890	0.550000	0.68814	GTG		0.557	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	Missense_Mutation	A	74936814	G	A	74936814	5	1	566	1	0	0	0	0	0	0	1	0	9551	1275	44	2	1881	2	MGAT5B	17	74936814	Splice_Site	SNP	G	TCGA-CW-6087-01A-11D-1669-08	25995860	74936814	6258396	45	30630											
WDR7	23335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	54424323	54424323	+	Silent	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr18:54424323A>G	ENST00000254442.3	+	15	2710	c.2499A>G	c.(2497-2499)gtA>gtG	p.V833V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.V833V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	833					hematopoietic progenitor cell differentiation (GO:0002244)			p.V833V(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACTGCACCGTATCGTTTGGCC	0.488																																																1	Substitution - coding silent(1)	kidney(1)											198	182	187					18																	54424323		2203	4300	6503	SO:0001819	synonymous_variant	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2499A>G	18.37:g.54424323A>G			A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	CCDS11962.1																																																																																				0.488	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			G	54424323	A	G	54424323	2	3	566	1	0	0	0	0	0	0	0	1	17325	436	16	3		3	WDR7	18	54424323	Silent	SNP	A	TCGA-CW-6087-01A-11D-1669-08		54424323	23652925	46	30631											
TSHZ1	10194	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72998494	72998494	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr18:72998494G>A	ENST00000580243.1	+	2	1480	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	TSHZ1_ENST00000322038.5_Missense_Mutation_p.E333K			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	378					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E333K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCCCTGAGTGAGTCAGCCAA	0.627																																																1	Substitution - Missense(1)	kidney(1)											91	98	95					18																	72998494		2203	4300	6503	SO:0001583	missense	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1132G>A	18.37:g.72998494G>A	ENSP00000464391:p.Glu378Lys		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	G	7.538	0.660076	0.14645	.	.	ENSG00000179981	ENST00000322038	T	0.12672	2.66	5.27	5.27	0.74061	.	0.240314	0.41500	D	0.000875	T	0.17916	0.0430	L	0.56769	1.78	0.50813	D	0.999896	B	0.31383	0.321	B	0.26770	0.073	T	0.01692	-1.1294	10	0.48119	T	0.1	-21.4624	18.8997	0.92437	0.0:0.0:1.0:0.0	.	378	Q6ZSZ6	TSH1_HUMAN	K	333	ENSP00000323584:E333K	ENSP00000323584:E333K	E	+	1	0	TSHZ1	71127482	1.000000	0.71417	0.071000	0.20095	0.089000	0.18198	9.282000	0.95840	1.986000	0.57962	0.459000	0.35465	GAG		0.627	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		A	72998494	G	A	72998494	3	1	566	1	0	0	0	0	1	0	0	0	16628	1291	45	2	999	2	TSHZ1	18	72998494	Missense_Mutation	SNP	G	TCGA-CW-6087-01A-11D-1669-08	18574171	72998494	5078754	47	30632											
TCF3	6929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1612391	1612391	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr19:1612391C>A	ENST00000344749.5	-	18	1694	c.1628G>T	c.(1627-1629)aGg>aTg	p.R543M	TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Missense_Mutation_p.R543M|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Missense_Mutation_p.R458M	NM_001136139.2	NP_001129611.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R543M(1)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGGTCCCTCAGGTCTTT	0.657			T	"PBX1, HLF, TFPT"	pre B-ALL																																		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	1	Substitution - Missense(1)	kidney(1)											66	64	64					19																	1612391		1568	3582	5150	SO:0001583	missense	6929			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000344749.5:c.1628G>T	19.37:g.1612391C>A	ENSP00000344375:p.Arg543Met		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000344749.5	37	CCDS45899.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443367	0.83993	.	.	ENSG00000071564	ENST00000344749;ENST00000453954	D	0.97598	-4.45	4.63	4.63	0.57726	.	.	.	.	.	D	0.98419	0.9474	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99701	1.1004	8	0.87932	D	0	.	16.8493	0.85989	0.0:1.0:0.0:0.0	.	543	P15923-2	.	M	543	ENSP00000344375:R543M	ENSP00000344375:R543M	R	-	2	0	TCF3	1563391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.893000	0.69798	2.284000	0.76573	0.561000	0.74099	AGG		0.657	TCF3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449375.1	NM_003200		A	1612391	C	A	1612391	3	1	566	1	0	0	0	0	1	0	0	0	15699	681	24	4	335	4	TCF3	19	1612391	Missense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08		1612391	57516592	48	30633											
UPF1	5976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18960913	18960913	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr19:18960913A>G	ENST00000599848.1	+	4	700	c.491A>G	c.(490-492)aAa>aGa	p.K164R	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000262803.5_Missense_Mutation_p.K164R			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	164	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K164R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGAGGGCAAAATGCAAAGAG	0.522																																																1	Substitution - Missense(1)	kidney(1)											90	89	89					19																	18960913		2203	4300	6503	SO:0001583	missense	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.491A>G	19.37:g.18960913A>G	ENSP00000470142:p.Lys164Arg		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	A	11.68	1.709503	0.30322	.	.	ENSG00000005007	ENST00000262803	D	0.90504	-2.68	4.51	4.51	0.55191	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	N	0.11789	0.175	0.80722	D	1	B;B	0.13145	0.007;0.006	B;B	0.28709	0.093;0.056	T	0.74077	-0.3781	10	0.08179	T	0.78	-22.5562	13.2825	0.60224	1.0:0.0:0.0:0.0	.	164;164	Q92900;Q92900-2	RENT1_HUMAN;.	R	164	ENSP00000262803:K164R	ENSP00000262803:K164R	K	+	2	0	UPF1	18821913	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	8.873000	0.92357	1.801000	0.52704	0.482000	0.46254	AAA		0.522	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		G	18960913	A	G	18960913	3	3	566	1	0	0	0	0	1	0	0	0	17008	14	1	3	505	3	UPF1	19	18960913	Missense_Mutation	SNP	A	TCGA-CW-6087-01A-11D-1669-08	17348522	18960913	40168070	49	30634											
SF4	57794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19427268	19427268	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr19:19427268T>G	ENST00000247001.5	-	2	516	c.169A>C	c.(169-171)Aat>Cat	p.N57H	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Missense_Mutation_p.N57H	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.N57H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GCCACCTGATTCTGCTTGGCT	0.527																																																1	Substitution - Missense(1)	kidney(1)											169	118	136					19																	19427268		2203	4300	6503	SO:0001583	missense	57794			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.169A>C	19.37:g.19427268T>G	ENSP00000247001:p.Asn57His		O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405166	0.62288	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	T	0.24723	1.84	4.87	2.76	0.32466	.	0.288824	0.30401	N	0.009705	T	0.22044	0.0531	L	0.55481	1.735	0.21064	N	0.999796	P	0.43169	0.8	B	0.41088	0.347	T	0.11966	-1.0566	10	0.46703	T	0.11	.	4.9352	0.13937	0.0:0.1682:0.1555:0.6763	.	57	Q8IWZ8	SUGP1_HUMAN	H	57	ENSP00000247001:N57H	ENSP00000247001:N57H	N	-	1	0	SUGP1	19288268	0.995000	0.38212	0.924000	0.36721	0.994000	0.84299	2.092000	0.41700	0.304000	0.22809	0.454000	0.30748	AAT		0.527	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		G	19427268	T	G	19427268	3	3	566	1	0	0	0	0	1	0	0	0	14161	1783	62	5	1820	5	SF4	19	19427268	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08	466355	19427268	39701715	50	30635											
SIPA1L3	23094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38591731	38591731	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr19:38591731G>A	ENST00000222345.6	+	6	2403	c.1894G>A	c.(1894-1896)Gcc>Acc	p.A632T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	632	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.A632T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTATTGCAAGGCCGGCCAGAG	0.617																																																1	Substitution - Missense(1)	kidney(1)											41	41	41					19																	38591731		2203	4300	6503	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1894G>A	19.37:g.38591731G>A	ENSP00000222345:p.Ala632Thr		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	36	5.777041	0.96929	.	.	ENSG00000105738	ENST00000222345	D	0.93906	-3.31	5.11	5.11	0.69529	Rap/ran-GAP (1);	0.054450	0.64402	D	0.000001	D	0.96034	0.8708	M	0.93062	3.375	0.58432	D	0.999997	B	0.25007	0.116	B	0.38264	0.269	D	0.95089	0.8220	10	0.59425	D	0.04	-19.7495	17.8292	0.88676	0.0:0.0:1.0:0.0	.	632	O60292	SI1L3_HUMAN	T	632	ENSP00000222345:A632T	ENSP00000222345:A632T	A	+	1	0	SIPA1L3	43283571	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	6.038000	0.70964	2.816000	0.96949	0.561000	0.74099	GCC		0.617	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		A	38591731	G	A	38591731	3	1	566	1	0	0	0	0	1	0	0	0	14337	1203	42	2	1908	2	SIPA1L3	19	38591731	Missense_Mutation	SNP	G	TCGA-CW-6087-01A-11D-1669-08	19164463	38591731	20537252	51	30636											
ZNF285	26974	hgsc.bcm.edu	37	19	44891043	44891043	+	Missense_Mutation	SNP	G	G	T	rs77661661		TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr19:44891043G>T	ENST00000330997.4	-	4	1428	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	ZNF285_ENST00000591679.1_Missense_Mutation_p.P462Q|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.P455Q	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P455Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GCATTTGTATGGTTTCTCCCC	0.448																																																1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1364C>A	19.37:g.44891043G>T	ENSP00000333595:p.Pro455Gln		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224441	0.58668	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.17213	2.29	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	M	0.75447	2.3	0.30665	N	0.754012	D;B	0.89917	1.0;0.012	D;B	0.83275	0.996;0.04	T	0.45323	-0.9269	9	0.62326	D	0.03	.	13.918	0.63914	0.0:0.0:1.0:0.0	.	479;455	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	478;455	ENSP00000333595:P455Q	ENSP00000333595:P455Q	P	-	2	0	ZNF285	49582883	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	5.120000	0.64685	1.598000	0.50083	0.298000	0.19748	CCA		0.448	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		T	44891043	G	T	44891043	3	4	566	1	0	0	0	0	1	0	0	0	17827	1348	47	4	412	4	ZNF285	19	44891043	Missense_Mutation	SNP	G	TCGA-CW-6087-01A-11D-1669-08	6299312	44891043	14237940	52	30637											
PCSK2	5126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	17434533	17434533	+	Silent	SNP	C	C	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr20:17434533C>T	ENST00000262545.2	+	9	1347	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_ENST00000536609.1_Silent_p.D309D|PCSK2_ENST00000377899.1_Silent_p.D325D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	344	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D344D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCCTGTACGACGAGAGCTGCT	0.597																																																1	Substitution - coding silent(1)	kidney(1)											144	108	120					20																	17434533		2203	4300	6503	SO:0001819	synonymous_variant	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1032C>T	20.37:g.17434533C>T			B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	CCDS13125.1																																																																																				0.597	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17434533	C	T	17434533	2	4	566	1	0	0	0	0	0	0	0	1	11603	535	19	1		1	PCSK2	20	17434533	Silent	SNP	C	TCGA-CW-6087-01A-11D-1669-08		17434533	45590987	53	30638											
SGK2	10110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	42199332	42199332	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr20:42199332G>C	ENST00000341458.4	+	6	835	c.616G>C	c.(616-618)Gcc>Ccc	p.A206P	SGK2_ENST00000373077.1_Missense_Mutation_p.A145P|SGK2_ENST00000373100.1_Missense_Mutation_p.A146P|SGK2_ENST00000373092.3_Missense_Mutation_p.A146P|SGK2_ENST00000423407.3_Missense_Mutation_p.A146P|SGK2_ENST00000426287.1_Missense_Mutation_p.A172P|SGK2_ENST00000485914.1_3'UTR	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.A206P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGTGGCCAGCGCCATTGGCTA	0.627																																																1	Substitution - Missense(1)	kidney(1)											53	55	54					20																	42199332		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.616G>C	20.37:g.42199332G>C	ENSP00000340608:p.Ala206Pro		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107666	0.94292	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.12	4.12	0.48240	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097634	0.64402	D	0.000001	T	0.73628	0.3611	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.986	T	0.82372	-0.0490	10	0.87932	D	0	.	16.3487	0.83191	0.0:0.0:1.0:0.0	.	172;206;146	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	P	146;146;145;145;146;206;172	ENSP00000362192:A146P;ENSP00000362184:A146P;ENSP00000362168:A145P;ENSP00000396222:A145P;ENSP00000392795:A146P;ENSP00000340608:A206P;ENSP00000412214:A172P	ENSP00000340608:A206P	A	+	1	0	SGK2	41632746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.429000	0.97481	2.589000	0.87451	0.561000	0.74099	GCC		0.627	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			C	42199332	G	C	42199332	3	2	566	1	0	0	0	0	1	0	0	0	14215	1087	38	4	638	4	SGK2	20	42199332	Missense_Mutation	SNP	G	TCGA-CW-6087-01A-11D-1669-08	24764799	42199332	20826188	54	30639											
PLTP	5360	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44538612	44538612	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr20:44538612G>T	ENST00000477313.1	-	3	892	c.298C>A	c.(298-300)Cgc>Agc	p.R100S	PLTP_ENST00000372420.1_Missense_Mutation_p.R12S|PLTP_ENST00000542937.1_Missense_Mutation_p.R120S|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372431.3_Missense_Mutation_p.R100S|PLTP_ENST00000354050.4_Missense_Mutation_p.R100S			P55058	PLTP_HUMAN	phospholipid transfer protein	100					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.R100S(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CTCCGGAAGCGCAGCCCCAAG	0.587																																																1	Substitution - Missense(1)	kidney(1)											77	70	72					20																	44538612		2203	4300	6503	SO:0001583	missense	5360			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.298C>A	20.37:g.44538612G>T	ENSP00000417138:p.Arg100Ser		A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463700	0.26335	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	4.83	3.86	0.44501	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.310618	0.39210	N	0.001429	T	0.04907	0.0132	L	0.42245	1.32	0.30651	N	0.755388	B;B;B;B;B	0.21688	0.059;0.059;0.022;0.059;0.059	B;B;B;B;B	0.25140	0.058;0.058;0.025;0.058;0.058	T	0.20505	-1.0273	10	0.06625	T	0.88	-8.1062	12.4925	0.55907	0.0:0.0:0.6961:0.3039	.	12;100;100;100;120	B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;PLTP_HUMAN;.	S	12;100;100;100;120	ENSP00000361497:R12S;ENSP00000361508:R100S;ENSP00000335290:R100S;ENSP00000417138:R100S;ENSP00000440296:R120S	ENSP00000335290:R100S	R	-	1	0	PLTP	43972019	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.888000	0.63164	1.352000	0.45808	0.555000	0.69702	CGC		0.587	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		T	44538612	G	T	44538612	3	4	566	1	0	0	0	0	1	0	0	0	12116	1087	38	4	1235	4	PLTP	20	44538612	Missense_Mutation	SNP	G	TCGA-CW-6087-01A-11D-1669-08	2339280	44538612	18486908	55	30640											
PREX1	57580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47292733	47292733	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr20:47292733G>T	ENST00000371941.3	-	14	1685	c.1663C>A	c.(1663-1665)Cag>Aag	p.Q555K	PREX1_ENST00000396220.1_Missense_Mutation_p.Q555K	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	555	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q555K(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCTCACCTGAGCCAGCAGC	0.512																																																2	Substitution - Missense(2)	kidney(2)											135	120	125					20																	47292733		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1663C>A	20.37:g.47292733G>T	ENSP00000361009:p.Gln555Lys		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598069	0.87055	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.14144	2.53;2.53	5.02	5.02	0.67125	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.52532	U	0.000078	T	0.35740	0.0942	L	0.61387	1.9	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	T	0.09037	-1.0693	10	0.72032	D	0.01	.	17.1246	0.86710	0.0:0.0:1.0:0.0	.	555	Q8TCU6	PREX1_HUMAN	K	555	ENSP00000361009:Q555K;ENSP00000379522:Q555K	ENSP00000361009:Q555K	Q	-	1	0	PREX1	46726140	1.000000	0.71417	0.950000	0.38849	0.775000	0.43874	9.002000	0.93572	2.314000	0.78098	0.551000	0.68910	CAG		0.512	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		T	47292733	G	T	47292733	3	4	566	1	0	0	0	0	1	0	0	0	12481	1299	45	4	3424	4	PREX1	20	47292733	Missense_Mutation	SNP	G	TCGA-CW-6087-01A-11D-1669-08	2754121	47292733	15732787	56	30641											
KCNJ15	3772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	39671492	39671492	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr21:39671492T>G	ENST00000328656.4	+	4	612	c.309T>G	c.(307-309)aaT>aaG	p.N103K	KCNJ15_ENST00000398938.2_Missense_Mutation_p.N103K|KCNJ15_ENST00000398930.1_Missense_Mutation_p.N103K|KCNJ15_ENST00000398934.1_Missense_Mutation_p.N103K|KCNJ15_ENST00000398932.1_Missense_Mutation_p.N103K	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	103					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.N103K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CCATTTCAAATCATACCCCCT	0.493																																																1	Substitution - Missense(1)	kidney(1)											110	111	111					21																	39671492		2203	4300	6503	SO:0001583	missense	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.309T>G	21.37:g.39671492T>G	ENSP00000331698:p.Asn103Lys		D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	T	8.499	0.863909	0.17250	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	5.43	-6.08	0.02151	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.158377	0.53938	D	0.000057	D	0.88858	0.6551	L	0.58669	1.825	0.41753	D	0.989678	B	0.18610	0.029	B	0.25291	0.059	T	0.67806	-0.5575	9	.	.	.	.	13.5799	0.61896	0.0:0.65:0.1096:0.2404	.	103	Q99712	IRK15_HUMAN	K	103	ENSP00000331698:N103K;ENSP00000381902:N103K;ENSP00000381911:N103K;ENSP00000381905:N103K;ENSP00000414487:N103K;ENSP00000381904:N103K;ENSP00000381907:N103K;ENSP00000381901:N103K;ENSP00000400849:N103K	.	N	+	3	2	KCNJ15	38593362	0.125000	0.22332	0.395000	0.26283	0.420000	0.31355	-0.318000	0.08050	-1.133000	0.02903	-0.408000	0.06270	AAT		0.493	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		G	39671492	T	G	39671492	3	3	566	1	0	0	0	0	1	0	0	0	8051	1432	50	5	311	5	KCNJ15	21	39671492	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08		39671492	8458403	57	30642											
GAL3ST1	9514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30951966	30951966	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chr22:30951966C>A	ENST00000402321.1	-	3	563	c.246G>T	c.(244-246)aaG>aaT	p.K82N	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.K82N|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.K82N|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.K82N|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.K82N|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.K82N|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.K82N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	82					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.K82N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TCTTGTGCGTCTTCAAGAACA	0.642																																																1	Substitution - Missense(1)	kidney(1)											74	67	69					22																	30951966		2203	4300	6503	SO:0001583	missense	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.246G>T	22.37:g.30951966C>A	ENSP00000385735:p.Lys82Asn		Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386266	0.42308	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899;ENST00000423299;ENST00000443136;ENST00000423371;ENST00000428682;ENST00000453479;ENST00000426220;ENST00000447224;ENST00000411821	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.92923	3.36	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.73209	-0.4055	10	0.87932	D	0	-16.1457	18.191	0.89807	0.0:1.0:0.0:0.0	.	82	Q99999	G3ST1_HUMAN	N	82;82;82;82;82;82;82;82;83;82;82;82;83;82;82;83;82;82;82;82;82	ENSP00000385825:K82N;ENSP00000385735:K82N;ENSP00000384122:K82N;ENSP00000384388:K82N;ENSP00000343234:K82N;ENSP00000385207:K82N;ENSP00000402587:K82N;ENSP00000390545:K82N;ENSP00000395080:K83N;ENSP00000405017:K82N;ENSP00000401426:K82N;ENSP00000391485:K82N;ENSP00000397092:K83N;ENSP00000391996:K82N;ENSP00000405381:K82N;ENSP00000401074:K83N;ENSP00000389876:K82N;ENSP00000398380:K82N;ENSP00000414542:K82N;ENSP00000412995:K82N;ENSP00000394912:K82N	ENSP00000343234:K82N	K	-	3	2	GAL3ST1	29281966	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	1.966000	0.40481	2.415000	0.81967	0.591000	0.81541	AAG		0.642	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		A	30951966	C	A	30951966	3	1	566	1	0	0	0	0	1	0	0	0	6199	912	32	4	1029	4	GAL3ST1	22	30951966	Missense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08		30951966	20352600	58	30643											
PCDH19	57526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	99662750	99662750	+	Silent	SNP	G	G	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chrX:99662750G>A	ENST00000373034.4	-	1	2521	c.846C>T	c.(844-846)aaC>aaT	p.N282N	PCDH19_ENST00000255531.7_Silent_p.N282N|PCDH19_ENST00000420881.2_Silent_p.N282N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	282	Cadherin 3. {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)	p.N282N(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCGTGCGGTCGTTGACGTAGC	0.602													G|||	1	0.000264901	0.0	0.0	3775	,	,		14366	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											115	120	118					X																	99662750		2176	4257	6433	SO:0001819	synonymous_variant	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.846C>T	X.37:g.99662750G>A			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	CCDS55462.1																																																																																				0.602	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		A	99662750	G	A	99662750	2	1	566	1	0	0	0	0	0	0	0	1	11516	1136	40	1		1	PCDH19	23	99662750	Silent	SNP	G	TCGA-CW-6087-01A-11D-1669-08		99662750	55607810	59	30644											
HAUS7	55559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	152719888	152719888	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chrX:152719888T>C	ENST00000370211.4	-	9	1082	c.1039A>G	c.(1039-1041)Atc>Gtc	p.I347V	TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_3'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.I406V	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	347					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)	p.I406V(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CCCCAGCAGATCTGCTCGCCT	0.642																																																1	Substitution - Missense(1)	kidney(1)											54	40	45					X																	152719888		2203	4300	6503	SO:0001583	missense	55559			AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"HAUS augmin-like complex subunits"	32979	protein-coding gene	gene with protein product	"UCH37 interacting protein 1", "26S proteasome-associated UCH interacting protein 1"	300540	"UCHL5 interacting protein"	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.1039A>G	X.37:g.152719888T>C	ENSP00000359230:p.Ile347Val		B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	CCDS35438.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.656161	0.29425	.	.	ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000370212	T;T;T	0.25912	1.77;1.77;1.77	4.88	-2.69	0.06022	.	1.512690	0.03713	N	0.250626	T	0.14270	0.0345	L	0.29908	0.895	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.13407	0.009;0.009	T	0.21861	-1.0233	10	0.02654	T	1	-0.88	5.3912	0.16245	0.0:0.2026:0.4905:0.3069	.	347;406	Q99871;Q99871-2	HAUS7_HUMAN;.	V	337;347;406	ENSP00000359230:I337V;ENSP00000359239:I347V;ENSP00000359231:I406V	ENSP00000359230:I337V	I	-	1	0	HAUS7	152373082	0.000000	0.05858	0.000000	0.03702	0.578000	0.36192	-0.697000	0.05098	-0.317000	0.08677	0.430000	0.28490	ATC		0.642	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		C	152719888	T	C	152719888	3	2	566	1	0	0	0	0	1	0	0	0	6973	1435	50	3	75	3	HAUS7	23	152719888	Missense_Mutation	SNP	T	TCGA-CW-6087-01A-11D-1669-08	53057138	152719888	2550672	60	30645											
PNCK	139728	broad.mit.edu	37	X	152936765	152936765	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6087-01A-11D-1669-08	TCGA-CW-6087-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65c23a97-1763-47d5-8648-df24cf0226f3	8085a4ca-eaa6-417b-84d8-d5fa912dcdc3	g.chrX:152936765C>A	ENST00000370150.1	-	7	767	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	PNCK_ENST00000447676.2_Missense_Mutation_p.A280S|PNCK_ENST00000393831.2_Missense_Mutation_p.A220S|PNCK_ENST00000340888.3_Missense_Mutation_p.A197S|PNCK_ENST00000370142.1_Missense_Mutation_p.A220S|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000370145.4_Missense_Mutation_p.A214S			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A197S(1)|p.A214S(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGCCCAGGGCCCACACATCT	0.642																																																2	Substitution - Missense(2)	kidney(2)											55	58	57					X																	152936765		2203	4300	6503	SO:0001583	missense	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.589G>T	X.37:g.152936765C>A	ENSP00000359169:p.Ala197Ser		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37		.	.	.	.	.	.	.	.	.	.	N	1.575	-0.533160	0.04082	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7	4.12	4.12	0.48240	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000043	T	0.03871	0.0109	N	0.01405	-0.89	0.36082	D	0.842856	P;B;P	0.41393	0.748;0.088;0.648	B;B;B	0.36134	0.218;0.138;0.205	T	0.35325	-0.9793	10	0.02654	T	1	-21.615	14.5401	0.67987	0.0:1.0:0.0:0.0	.	280;214;197	Q6P2M8-5;B4E1A6;Q6P2M8	.;.;KCC1B_HUMAN	S	197;197;220;220;214;280;197;197	ENSP00000340586:A197S;ENSP00000359169:A197S;ENSP00000377417:A220S;ENSP00000359161:A220S;ENSP00000359164:A214S;ENSP00000405950:A280S;ENSP00000415770:A197S;ENSP00000391772:A197S	ENSP00000340586:A197S	A	-	1	0	PNCK	152589959	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	2.421000	0.44688	1.650000	0.50662	0.424000	0.28305	GCC		0.642	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		A	152936765	C	A	152936765	3	1	566	1	0	0	0	0	1	0	0	0	12147	739	26	4	462	4	PNCK	23	152936765	Missense_Mutation	SNP	C	TCGA-CW-6087-01A-11D-1669-08	216877	152936765	2333795	61	30646											
RCC2	55920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17748729	17748729	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:17748729G>A	ENST00000375436.4	-	6	901	c.714C>T	c.(712-714)aaC>aaT	p.N238N	RCC2_ENST00000375433.3_Silent_p.N238N	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	238					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)	p.N238N(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CGTCTGTCTGGTTGCCAAGGC	0.502																																																1	Substitution - coding silent(1)	kidney(1)											68	84	79					1																	17748729		2203	4300	6503	SO:0001819	synonymous_variant	55920				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.714C>T	1.37:g.17748729G>A			Q8IVL9|Q9BSN6|Q9NPV8	Silent	SNP	ENST00000375436.4	37	CCDS181.1																																																																																				0.502	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		A	17748729	G	A	17748729	2	1	567	1	0	0	0	0	0	0	0	1	13180	1252	44	2		2	RCC2	1	17748729	Silent	SNP	G	TCGA-CW-6090-01A-11D-1669-08		17748729	231501892	1	30647											
PTPRU	10076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29585159	29585159	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:29585159C>T	ENST00000345512.3	+	3	477	c.348C>T	c.(346-348)acC>acT	p.T116T	PTPRU_ENST00000428026.2_Silent_p.T116T|PTPRU_ENST00000323874.8_Silent_p.T116T|PTPRU_ENST00000373779.3_Silent_p.T116T|PTPRU_ENST00000356870.3_Silent_p.T116T|PTPRU_ENST00000460170.2_Silent_p.T116T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	116	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T116T(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCCGGGCACCCTGGGCGTCT	0.627																																																3	Substitution - coding silent(3)	kidney(3)											104	118	113					1																	29585159		2203	4300	6503	SO:0001819	synonymous_variant	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.348C>T	1.37:g.29585159C>T			A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	CCDS334.1																																																																																				0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			T	29585159	C	T	29585159	2	4	567	1	0	0	0	0	0	0	0	1	12819	610	22	2		2	PTPRU	1	29585159	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	11836430	29585159	219665462	2	30648											
GJB3	2707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35250435	35250435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:35250435G>A	ENST00000373366.2	+	2	687	c.72G>A	c.(70-72)tgG>tgA	p.W24*	GJB3_ENST00000373362.3_Nonsense_Mutation_p.W24*|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	24					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.W24*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCGCATCTGGCTGTCCGTGG	0.617																																																1	Substitution - Nonsense(1)	kidney(1)											159	118	132					1																	35250435		2203	4300	6503	SO:0001587	stop_gained	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.72G>A	1.37:g.35250435G>A	ENSP00000362464:p.Trp24*		B2R790|Q2TAZ8	Nonsense_Mutation	SNP	ENST00000373366.2	37	CCDS384.1	.	.	.	.	.	.	.	.	.	.	g	39	7.442530	0.98286	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7879	0.96445	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	ENSP00000362460:W24X	W	+	3	0	GJB3	35023022	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	9.807000	0.99171	2.771000	0.95319	0.561000	0.74099	TGG		0.617	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		A	35250435	G	A	35250435	4	1	567	1	0	0	0	0	0	1	0	0	6411	1212	42	2	74	2	GJB3	1	35250435	Nonsense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	5665276	35250435	214000186	3	30649											
EIF2C4	192670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36319144	36319144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:36319144C>T	ENST00000373210.3	+	18	2769	c.2524C>T	c.(2524-2526)Cag>Tag	p.Q842*		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	842					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.Q842*(1)									CCGGGATCCTCAGGCCTTGGC	0.453																																																1	Substitution - Nonsense(1)	kidney(1)											101	90	94					1																	36319144		2203	4300	6503	SO:0001587	stop_gained	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2524C>T	1.37:g.36319144C>T	ENSP00000362306:p.Gln842*		A7MD27	Nonsense_Mutation	SNP	ENST00000373210.3	37	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	41	8.958957	0.99018	.	.	ENSG00000134698	ENST00000373210	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-11.566	19.888	0.96917	0.0:1.0:0.0:0.0	.	.	.	.	X	842	.	ENSP00000362306:Q842X	Q	+	1	0	EIF2C4	36091731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.720000	0.93068	0.591000	0.81541	CAG		0.453	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		T	36319144	C	T	36319144	4	4	567	1	0	0	0	0	0	1	0	0	5010	827	29	2	2594	2	EIF2C4	1	36319144	Nonsense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	1068709	36319144	212931477	4	30650											
CYP4A11	1579	broad.mit.edu	37	1	47401310	47401310	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:47401310C>T	ENST00000310638.4	-	5	551	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	CYP4A11_ENST00000462347.1_Missense_Mutation_p.E174K|CYP4A11_ENST00000457840.2_Missense_Mutation_p.E70K|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.E174K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.E174K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	174					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.E174K(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	AGGAGCTCTTCCCATTTGTCC	0.522																																																1	Substitution - Missense(1)	kidney(1)											67	53	58					1																	47401310		2201	4279	6480	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.520G>A	1.37:g.47401310C>T	ENSP00000311095:p.Glu174Lys		Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	17.03	3.285461	0.59867	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.03	5.03	0.67393	.	0.122833	0.56097	D	0.000028	T	0.71013	0.3290	L	0.33792	1.035	0.58432	D	0.999994	P	0.40000	0.698	P	0.53102	0.718	T	0.73177	-0.4065	10	0.59425	D	0.04	.	17.7018	0.88296	0.0:1.0:0.0:0.0	.	174	Q02928	CP4AB_HUMAN	K	174;174;174;70	ENSP00000311095:E174K;ENSP00000360971:E174K;ENSP00000360972:E174K;ENSP00000406272:E70K	ENSP00000311095:E174K	E	-	1	0	CYP4A11	47173897	1.000000	0.71417	0.985000	0.45067	0.285000	0.27093	2.867000	0.48428	2.497000	0.84241	0.650000	0.86243	GAA		0.522	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		T	47401310	C	T	47401310	3	4	567	1	0	0	0	0	1	0	0	0	4185	864	30	2	1071	2	CYP4A11	1	47401310	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	11082166	47401310	201849311	5	30651											
CLCA4	22802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	87031612	87031612	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:87031612T>C	ENST00000370563.3	+	6	905	c.863T>C	c.(862-864)aTg>aCg	p.M288T	CLCA4_ENST00000263723.5_Start_Codon_SNP_p.M1T	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	288					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.M288T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACCATACCCATGGTGACACCA	0.408																																																1	Substitution - Missense(1)	kidney(1)											157	148	151					1																	87031612		1883	4121	6004	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.863T>C	1.37:g.87031612T>C	ENSP00000359594:p.Met288Thr		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	T	9.789	1.177293	0.21787	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.13901	4.13;2.55	6.11	4.97	0.65823	.	0.516628	0.19865	N	0.104322	T	0.12561	0.0305	M	0.87758	2.905	0.37992	D	0.933934	B	0.17268	0.021	B	0.21708	0.036	T	0.02238	-1.1190	10	0.87932	D	0	-12.2233	11.3593	0.49633	0.0:0.0:0.2897:0.7102	.	288	Q14CN2	CLCA4_HUMAN	T	288;1	ENSP00000359594:M288T;ENSP00000263723:M1T	ENSP00000263723:M1T	M	+	2	0	CLCA4	86804200	0.001000	0.12720	0.027000	0.17364	0.046000	0.14306	0.449000	0.21744	1.100000	0.41517	0.533000	0.62120	ATG		0.408	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		C	87031612	T	C	87031612	3	2	567	1	0	0	0	0	1	0	0	0	3461	1464	51	3	885	3	CLCA4	1	87031612	Missense_Mutation	SNP	T	TCGA-CW-6090-01A-11D-1669-08	39630302	87031612	162219009	6	30652											
LMO4	8543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	87805280	87805280	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:87805280G>A	ENST00000370544.5	+	3	1078	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Missense_Mutation_p.V100I	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	100	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V100I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GAGTGAACTCGTCATGAGGGC	0.423																																																1	Substitution - Missense(1)	kidney(1)											98	96	97					1																	87805280		2203	4300	6503	SO:0001583	missense	8543			U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.298G>A	1.37:g.87805280G>A	ENSP00000359575:p.Val100Ile		D3DT23|O00158|O88894	Missense_Mutation	SNP	ENST00000370544.5	37	CCDS713.1	.	.	.	.	.	.	.	.	.	.	G	36	5.829793	0.96996	.	.	ENSG00000143013	ENST00000370544;ENST00000370542	T;T	0.52526	0.66;0.66	5.93	5.93	0.95920	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.65627	-0.6122	10	0.87932	D	0	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	100	P61968	LMO4_HUMAN	I	100	ENSP00000359575:V100I;ENSP00000359573:V100I	ENSP00000359573:V100I	V	+	1	0	LMO4	87577868	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.866000	0.99616	2.797000	0.96272	0.655000	0.94253	GTC		0.423	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2	NM_006769		A	87805280	G	A	87805280	3	1	567	1	0	0	0	0	1	0	0	0	8856	1145	40	1	304	1	LMO4	1	87805280	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	773668	87805280	161445341	7	30653											
OAZ3	51686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151740639	151740639	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:151740639G>T	ENST00000321531.5	+	4	441	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	OAZ3_ENST00000453029.2_Missense_Mutation_p.G105C|RP11-98D18.16_ENST00000596133.1_RNA|OAZ3_ENST00000315067.8_Missense_Mutation_p.G92C|RP11-98D18.3_ENST00000512280.1_RNA|RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000479764.1_Intron|OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000400999.1_5'UTR			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	137					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489)	p.G136C(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CCATTGGCACGGCCTTCTCTG	0.567																																																1	Substitution - Missense(1)	kidney(1)											79	78	78					1																	151740639		1977	4136	6113	SO:0001583	missense	51686			AF175296	CCDS58028.1	1q21.3	2008-02-05			ENSG00000143450	ENSG00000143450			8097	protein-coding gene	gene with protein product		605138				10781085	Standard	NM_016178		Approved		uc010pdm.2	Q9UMX2	OTTHUMG00000013061	ENST00000321531.5:c.274G>T	1.37:g.151740639G>T	ENSP00000313922:p.Gly92Cys		E7EUE7|Q6GMR0	Missense_Mutation	SNP	ENST00000321531.5	37	CCDS58028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.582824|4.582824	0.86748|0.86748	.|.	.|.	ENSG00000143450|ENSG00000143450	ENST00000315067;ENST00000321531|ENST00000453029	T|.	0.47869|.	0.83|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Acyl-CoA N-acyltransferase (1);|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.49609|0.49609	0.1567|0.1567	L|L	0.38175|0.38175	1.15|1.15	0.46823|0.46823	D|D	0.999215|0.999215	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.37979|0.37979	-0.9682|-0.9682	10|5	0.72032|.	D|.	0.01|.	-21.888|-21.888	16.3795|16.3795	0.83443|0.83443	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	72;89|.	D3DV23;Q9UMX2|.	.;OAZ3_HUMAN|.	C|L	92;136|61	ENSP00000357820:G92C|.	ENSP00000357820:G92C|.	G|R	+|+	1|2	0|0	OAZ3|OAZ3	150007263|150007263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.440000|3.440000	0.52886|0.52886	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.567	OAZ3-004	KNOWN	non_canonical_other|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276842.3	NM_016178		T	151740639	G	T	151740639	3	4	567	1	0	0	0	0	1	0	0	0	10808	1116	39	4	456	4	OAZ3	1	151740639	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	63935359	151740639	97509982	8	30654											
LCE1B	353132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152785104	152785104	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:152785104G>C	ENST00000360090.3	+	1	658	c.182G>C	c.(181-183)gGc>gCc	p.G61A		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	61	Gly-rich.				keratinization (GO:0031424)			p.G61A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAAGCTGTGGCTCCAGCTCT	0.652																																																1	Substitution - Missense(1)	kidney(1)											56	64	61					1																	152785104		2203	4300	6503	SO:0001583	missense	353132			BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"Late cornified envelopes"	16611	protein-coding gene	gene with protein product		612604	"small proline rich-like (epidermal differentiation complex) 2A"	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.182G>C	1.37:g.152785104G>C	ENSP00000353203:p.Gly61Ala		A4IF40	Missense_Mutation	SNP	ENST00000360090.3	37	CCDS1027.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367480	0.24771	.	.	ENSG00000196734	ENST00000360090	T	0.03272	3.99	4.34	4.34	0.51931	.	.	.	.	.	T	0.01592	0.0051	L	0.29908	0.895	0.09310	N	1	B	0.28971	0.229	B	0.29176	0.099	T	0.42378	-0.9455	9	0.87932	D	0	.	12.2614	0.54652	0.0:0.0:1.0:0.0	.	61	Q5T7P3	LCE1B_HUMAN	A	61	ENSP00000353203:G61A	ENSP00000353203:G61A	G	+	2	0	LCE1B	151051728	0.442000	0.25633	0.227000	0.23927	0.947000	0.59692	3.352000	0.52239	2.244000	0.73946	0.585000	0.79938	GGC		0.652	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		C	152785104	G	C	152785104	3	2	567	1	0	0	0	0	1	0	0	0	8662	1203	42	4	184	4	LCE1B	1	152785104	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	1044465	152785104	96465517	9	30655											
OR10T2	128360	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158368416	158368416	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:158368416C>G	ENST00000334438.1	-	1	840	c.841G>C	c.(841-843)Gtt>Ctt	p.V281L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V281L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAGGGAGTAACCACTGTGTAG	0.473																																																1	Substitution - Missense(1)	kidney(1)											80	69	72					1																	158368416		2203	4300	6503	SO:0001583	missense	128360			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.841G>C	1.37:g.158368416C>G	ENSP00000334115:p.Val281Leu		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	C	5.248	0.231152	0.09969	.	.	ENSG00000186306	ENST00000334438	T	0.00227	8.5	4.57	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37906	N	0.001882	T	0.00039	0.0001	L	0.42008	1.315	0.09310	N	1	B	0.21381	0.055	B	0.24006	0.05	T	0.41610	-0.9499	10	0.35671	T	0.21	.	4.4078	0.11418	0.0:0.414:0.3169:0.2691	.	281	Q8NGX3	O10T2_HUMAN	L	281	ENSP00000334115:V281L	ENSP00000334115:V281L	V	-	1	0	OR10T2	156635040	0.001000	0.12720	0.058000	0.19502	0.971000	0.66376	-0.168000	0.09925	0.157000	0.19338	0.655000	0.94253	GTT		0.473	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		G	158368416	C	G	158368416	3	3	567	1	0	0	0	0	1	0	0	0	10921	507	18	4	105	4	OR10T2	1	158368416	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	5583312	158368416	90882205	10	30656											
F13B	2165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197024881	197024881	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:197024881C>T	ENST00000367412.1	-	8	1361	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	440	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.E440K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTTCCTTGTTCGCAACGAGAT	0.393																																																1	Substitution - Missense(1)	kidney(1)											136	132	133					1																	197024881		2203	4300	6503	SO:0001583	missense	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1318G>A	1.37:g.197024881C>T	ENSP00000356382:p.Glu440Lys		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	1.456	-0.563782	0.03939	.	.	ENSG00000143278	ENST00000367412	T	0.64803	-0.12	5.84	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.33691	N	0.004652	T	0.44808	0.1311	L	0.45581	1.43	0.19945	N	0.999946	B	0.32717	0.381	B	0.23852	0.049	T	0.35674	-0.9779	10	0.06236	T	0.91	.	8.2624	0.31793	0.0:0.7585:0.159:0.0825	.	440	P05160	F13B_HUMAN	K	440	ENSP00000356382:E440K	ENSP00000356382:E440K	E	-	1	0	F13B	195291504	0.059000	0.20769	0.388000	0.26195	0.109000	0.19521	0.151000	0.16283	1.414000	0.47017	0.591000	0.81541	GAA		0.393	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		T	197024881	C	T	197024881	3	4	567	1	0	0	0	0	1	0	0	0	5343	893	31	1	687	1	F13B	1	197024881	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	38656465	197024881	52225740	11	30657											
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	215990344	215990344	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr1:215990344C>T	ENST00000307340.3	-	48	9951	c.9565G>A	c.(9565-9567)Gct>Act	p.A3189T	USH2A_ENST00000366943.2_Missense_Mutation_p.A3189T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3189	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A3189T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTACCTTAGCTTCAGAAGAA	0.383										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	kidney(1)											126	114	118					1																	215990344		2203	4299	6502	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9565G>A	1.37:g.215990344C>T	ENSP00000305941:p.Ala3189Thr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	4.489	0.090616	0.08632	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12255	2.71;2.7	5.55	-1.98	0.07480	Fibronectin, type III (2);	0.965202	0.08478	N	0.939922	T	0.06188	0.0160	N	0.13327	0.33	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.45026	-0.9289	10	0.12103	T	0.63	.	5.7747	0.18273	0.3361:0.1625:0.0:0.5014	.	3189	O75445	USH2A_HUMAN	T	3189	ENSP00000305941:A3189T;ENSP00000355910:A3189T	ENSP00000305941:A3189T	A	-	1	0	USH2A	214056967	0.000000	0.05858	0.781000	0.31783	0.328000	0.28507	-0.320000	0.08028	-0.008000	0.14320	0.556000	0.70494	GCT		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215990344	C	T	215990344	3	4	567	1	0	0	0	0	1	0	0	0	17041	797	28	2	6143	2	USH2A	1	215990344	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	18965463	215990344	33260277	12	30658											
RSAD2	91543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	7023569	7023569	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:7023569G>A	ENST00000382040.3	+	2	550	c.414G>A	c.(412-414)aaG>aaA	p.K138K	RSAD2_ENST00000541728.1_Silent_p.K31K	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.K138K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ACCTGGGCAAGTTGGTGAGGT	0.502																																																1	Substitution - coding silent(1)	kidney(1)											114	110	112					2																	7023569		2203	4300	6503	SO:0001819	synonymous_variant	91543			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.414G>A	2.37:g.7023569G>A				Silent	SNP	ENST00000382040.3	37	CCDS1656.1																																																																																				0.502	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		A	7023569	G	A	7023569	2	1	567	1	0	0	0	0	0	0	0	1	13701	1020	36	2		2	RSAD2	2	7023569	Silent	SNP	G	TCGA-CW-6090-01A-11D-1669-08		7023569	236175804	13	30659											
PLB1	151056	hgsc.bcm.edu;ucsc.edu	37	2	28752187	28752187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:28752187delT	ENST00000327757.5	+	7	373	c.329delT	c.(328-330)cttfs	p.L110fs	PLB1_ENST00000422425.2_Frame_Shift_Del_p.L110fs	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	110	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTTTAGTCCTTTCAGACATC	0.502																																																0													175	153	161					2																	28752187		2203	4300	6503	SO:0001589	frameshift_variant	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.329delT	2.37:g.28752187delT	ENSP00000330442:p.Leu110fs		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Frame_Shift_Del	DEL	ENST00000327757.5	37	CCDS33168.1																																																																																				0.502	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			-	28752187	T	-	28752187	7	5	567	1	0	1	0	1	0	0	0	0	12026	1609	56	0	355	0	PLB1	2	28752187	Frame_Shift_Del	DEL	T	TCGA-CW-6090-01A-11D-1669-08	21728618	28752187	214447186	14	30660											
NAGK	55577	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	71299849	71299849	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:71299849G>C	ENST00000244204.6	+	5	496	c.434G>C	c.(433-435)gGc>gCc	p.G145A	NAGK_ENST00000443938.2_Missense_Mutation_p.G145A|NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000443872.2_5'UTR|NAGK_ENST00000455662.2_Missense_Mutation_p.G191A|NAGK_ENST00000418807.3_Missense_Mutation_p.G94A			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	145	Substrate binding.				carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)	p.G145A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GGCTGCGGCGGCTGGGGCCAT	0.582																																																1	Substitution - Missense(1)	kidney(1)											43	40	41					2																	71299849		2203	4300	6503	SO:0001583	missense	55577			AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.434G>C	2.37:g.71299849G>C	ENSP00000244204:p.Gly145Ala		B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.050286|5.050286	0.93740|0.93740	.|.	.|.	ENSG00000124357|ENSG00000124357	ENST00000443938|ENST00000244204;ENST00000455662;ENST00000418807;ENST00000529236	.|T;T;T;T	.|0.37915	.|1.17;1.17;1.17;1.17	5.57|5.57	5.57|5.57	0.84162|0.84162	.|ATPase, BadF/BadG/BcrA/BcrD type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67192|0.67192	0.2867|0.2867	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.72743|0.72743	-0.4201|-0.4201	5|10	.|0.62326	.|D	.|0.03	-6.3637|-6.3637	17.0563|17.0563	0.86534|0.86534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|145	.|Q9UJ70	.|NAGK_HUMAN	P|A	167|145;191;94;39	.|ENSP00000244204:G145A;ENSP00000389087:G191A;ENSP00000396070:G94A;ENSP00000431204:G39A	.|ENSP00000244204:G145A	A|G	+|+	1|2	0|0	NAGK|NAGK	71153357|71153357	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.880000|0.880000	0.50808|0.50808	9.285000|9.285000	0.95894|0.95894	2.620000|2.620000	0.88729|0.88729	0.563000|0.563000	0.77884|0.77884	GCT|GGC		0.582	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			C	71299849	G	C	71299849	3	2	567	1	0	0	0	0	1	0	0	0	10144	1203	42	4	590	4	NAGK	2	71299849	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	42547662	71299849	171899524	15	30661											
C2orf29	55571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	101883240	101883240	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:101883240A>G	ENST00000289382.3	+	5	1300	c.1137A>G	c.(1135-1137)atA>atG	p.I379M		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	379					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.I379M(1)									TAGTCGCTATAGAAATGTTGC	0.413																																																1	Substitution - Missense(1)	kidney(1)											173	166	168					2																	101883240		2203	4300	6503	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1137A>G	2.37:g.101883240A>G	ENSP00000289382:p.Ile379Met		Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	CCDS2050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.72|17.72	3.458787|3.458787	0.63401|0.63401	.|.	.|.	ENSG00000158435|ENSG00000158435	ENST00000289382|ENST00000420107	.|.	.|.	.|.	5.95|5.95	4.77|4.77	0.60923|0.60923	.|.	0.042842|.	0.85682|.	D|.	0.000000|.	T|T	0.73442|0.73442	0.3587|0.3587	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.77004|.	0.989|.	T|T	0.73736|0.73736	-0.3889|-0.3889	9|5	0.62326|.	D|.	0.03|.	-25.111|-25.111	7.4217|7.4217	0.27075|0.27075	0.6222:0.1295:0.0:0.2483|0.6222:0.1295:0.0:0.2483	.|.	379|.	Q9UKZ1|.	CB029_HUMAN|.	M|G	379|59	.|.	ENSP00000289382:I379M|.	I|R	+|+	3|1	3|2	C2orf29|C2orf29	101249672|101249672	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.971000|0.971000	0.66376|0.66376	1.017000|1.017000	0.29989|0.29989	1.037000|1.037000	0.40024|0.40024	0.533000|0.533000	0.62120|0.62120	ATA|AGA		0.413	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		G	101883240	A	G	101883240	3	3	567	1	0	0	0	0	1	0	0	0	2163	410	15	3	1155	3	C2orf29	2	101883240	Missense_Mutation	SNP	A	TCGA-CW-6090-01A-11D-1669-08	30583391	101883240	141316133	16	30662											
NPHP1	4867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	110922222	110922222	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:110922222G>T	ENST00000393272.3	-	8	911	c.814C>A	c.(814-816)Cta>Ata	p.L272I	NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000316534.4_Missense_Mutation_p.L272I|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	272					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L272I(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AGAACTATTAGGTAGCAAAAC	0.458																																																1	Substitution - Missense(1)	kidney(1)											169	168	169					2																	110922222		2203	4300	6503	SO:0001583	missense	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.814C>A	2.37:g.110922222G>T	ENSP00000376953:p.Leu272Ile		O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	5.299	0.240460	0.10023	.	.	ENSG00000144061	ENST00000316534;ENST00000393272	T;T	0.61274	0.12;0.12	4.17	-0.547	0.11836	.	0.822627	0.09596	U	0.780827	T	0.31295	0.0792	N	0.16478	0.41	0.09310	N	1	B;B	0.32968	0.272;0.392	B;B	0.28139	0.039;0.086	T	0.13926	-1.0491	10	0.20519	T	0.43	-0.0907	3.0481	0.06160	0.3957:0.0:0.4114:0.193	.	272;272	O15259;O15259-4	NPHP1_HUMAN;.	I	272	ENSP00000313169:L272I;ENSP00000376953:L272I	ENSP00000313169:L272I	L	-	1	2	NPHP1	110279511	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	1.357000	0.34090	-0.214000	0.10078	0.563000	0.77884	CTA		0.458	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		T	110922222	G	T	110922222	3	4	567	1	0	0	0	0	1	0	0	0	10581	991	35	4	1439	4	NPHP1	2	110922222	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	9038982	110922222	132277151	17	30663											
ACVR1	90	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158595006	158595006	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr2:158595006T>C	ENST00000263640.3	-	10	1770	c.1341A>G	c.(1339-1341)gtA>gtG	p.V447V	AC019186.1_ENST00000447019.1_lincRNA|ACVR1_ENST00000409283.2_Silent_p.V447V|ACVR1_ENST00000434821.1_Silent_p.V447V|ACVR1_ENST00000410057.2_Silent_p.V447V	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	447	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.V447V(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCACACAGACTACCTTCCTCA	0.443																																																1	Substitution - coding silent(1)	kidney(1)											280	242	255					2																	158595006		2203	4300	6503	SO:0001819	synonymous_variant	90				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1341A>G	2.37:g.158595006T>C				Silent	SNP	ENST00000263640.3	37	CCDS2206.1																																																																																				0.443	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		C	158595006	T	C	158595006	2	2	567	1	0	0	0	0	0	0	0	1	220	1509	53	3		3	ACVR1	2	158595006	Silent	SNP	T	TCGA-CW-6090-01A-11D-1669-08	47672784	158595006	84604367	18	30664											
SETD5	55209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9495474	9495474	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr3:9495474C>A	ENST00000406341.1	+	16	2588	c.2398C>A	c.(2398-2400)Ccc>Acc	p.P800T	SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402466.1_Missense_Mutation_p.P702T|SETD5_ENST00000402198.1_Missense_Mutation_p.P800T|SETD5_ENST00000302463.6_Missense_Mutation_p.P702T|SETD5_ENST00000407969.1_Missense_Mutation_p.P819T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	800								p.P800T(1)|p.P702T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ATCATCTGTACCCCAAGAGAC	0.363																																																2	Substitution - Missense(2)	kidney(2)											119	116	117					3																	9495474		1877	4102	5979	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2398C>A	3.37:g.9495474C>A	ENSP00000383939:p.Pro800Thr		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.46|15.46	2.838856|2.838856	0.51057|0.51057	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.92965|.	-2.8;-3.14;-2.8;-2.77;-3.14|.	5.52|5.52	4.63|4.63	0.57726|0.57726	.|.	0.178095|.	0.51477|.	D|.	0.000093|.	T|T	0.47060|0.47060	0.1425|0.1425	L|L	0.29908|0.29908	0.895|0.895	0.34479|0.34479	D|D	0.703626|0.703626	P;B;B;B|.	0.40534|.	0.72;0.167;0.041;0.043|.	P;B;B;B|.	0.46419|.	0.516;0.169;0.031;0.057|.	T|T	0.57347|0.57347	-0.7827|-0.7827	10|5	0.72032|.	D|.	0.01|.	-3.3143|-3.3143	12.011|12.011	0.53286|0.53286	0.0:0.8587:0.0:0.1413|0.0:0.8587:0.0:0.1413	.|.	469;702;800;819|.	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;SETD5_HUMAN;.|.	T|N	800;702;800;819;702|467;111	ENSP00000385852:P800T;ENSP00000384429:P702T;ENSP00000383939:P800T;ENSP00000384114:P819T;ENSP00000302028:P702T|.	ENSP00000302028:P702T|.	P|T	+|+	1|2	0|0	SETD5|SETD5	9470474|9470474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.127000|1.127000	0.31357|0.31357	1.440000|1.440000	0.47531|0.47531	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.363	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		A	9495474	C	A	9495474	3	1	567	1	0	0	0	0	1	0	0	0	14140	507	18	4	2456	4	SETD5	3	9495474	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08		9495474	188526956	19	30665											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191540	10191541	+	Frame_Shift_Ins	INS	-	-	G	rs5030822		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr3:10191540_10191541insG	ENST00000256474.2	+	3	1373_1374	c.533_534insG	c.(532-537)ctggacfs	p.D179fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Ins_p.D138fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	179					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L178R(1)|p.R177fs*37(1)|p.L178_V181del(1)|p.?fs(1)|p.Y175_L178>*(1)|p.L178fs*36(1)|p.D179fs*36(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TACAGGAGACTGGACATCGTCA	0.53		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Insertion - Frameshift(2)|Deletion - In frame(1)|Deletion - Frameshift(1)|Complex - frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(7)	GRCh37	CI984223|CM003061|CM941386|CM961439	VHL	I|M	rs5030822																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.535dupG	3.37:g.10191542_10191542dupG	ENSP00000256474:p.Asp179fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.53	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10191541	-	G	10191540	7	5	567	1	0	1	1	0	0	0	0	0	17167	1580	55	0	543	0	VHL	3	10191540	Frame_Shift_Ins	INS	-	TCGA-CW-6090-01A-11D-1669-08	696066	10191540	187830890	20	30666											
ZMYND10	51364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	50380356	50380356	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr3:50380356C>T	ENST00000231749.3	-	7	1965	c.693G>A	c.(691-693)cgG>cgA	p.R231R	RASSF1_ENST00000488024.1_5'Flank|ZMYND10_ENST00000360165.3_Intron|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000490675.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	231					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.R231R(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TACCTCCTTCCCGCCGGCTCC	0.597										TSP Lung(30;0.18)																																						1	Substitution - coding silent(1)	kidney(1)											80	78	79					3																	50380356		2203	4300	6503	SO:0001819	synonymous_variant	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.693G>A	3.37:g.50380356C>T			A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	ENST00000231749.3	37	CCDS2825.1																																																																																				0.597	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		T	50380356	C	T	50380356	2	4	567	1	0	0	0	0	0	0	0	1	17710	610	22	2		2	ZMYND10	3	50380356	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	40188816	50380356	147642074	21	30667											
POPDC2	64091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	119367299	119367299	+	Missense_Mutation	SNP	G	G	A	rs557421349		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr3:119367299G>A	ENST00000264231.3	-	3	983	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	POPDC2_ENST00000538678.1_Missense_Mutation_p.P273S|POPDC2_ENST00000493094.1_Missense_Mutation_p.P273S|POPDC2_ENST00000468801.1_Missense_Mutation_p.P273S|POPDC2_ENST00000474523.1_5'UTR	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	273					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)	p.P273S(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GCAGCAGTGGGACCCAGGACA	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		19002	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											106	102	103					3																	119367299		2203	4300	6503	SO:0001583	missense	64091			AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.817C>T	3.37:g.119367299G>A	ENSP00000264231:p.Pro273Ser		Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421248	0.25639	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.18502	2.21;2.22;2.21;2.21	5.08	0.126	0.14722	.	0.164140	0.56097	N	0.000034	T	0.13114	0.0318	L	0.55743	1.74	0.41923	D	0.990525	B;B	0.31209	0.313;0.181	B;B	0.25140	0.058;0.042	T	0.07139	-1.0788	10	0.45353	T	0.12	.	7.1005	0.25333	0.263:0.1122:0.6248:0.0	.	273;273	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	S	273	ENSP00000264231:P273S;ENSP00000417250:P273S;ENSP00000420715:P273S;ENSP00000438271:P273S	ENSP00000264231:P273S	P	-	1	0	POPDC2	120849989	0.997000	0.39634	0.393000	0.26258	0.506000	0.33950	2.404000	0.44539	0.056000	0.16144	0.561000	0.74099	CCC		0.562	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		A	119367299	G	A	119367299	3	1	567	1	0	0	0	0	1	0	0	0	12257	1174	41	2	285	2	POPDC2	3	119367299	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	68986943	119367299	78655131	22	30668											
CP	1356	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	148928072	148928072	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr3:148928072T>C	ENST00000264613.6	-	3	751	c.489A>G	c.(487-489)gaA>gaG	p.E163E		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	163	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.E163E(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GACTTTGTTCTTCAGTGGCAA	0.448																																																1	Substitution - coding silent(1)	kidney(1)											203	177	186					3																	148928072		2203	4300	6503	SO:0001819	synonymous_variant	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.489A>G	3.37:g.148928072T>C			Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	CCDS3141.1																																																																																				0.448	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		C	148928072	T	C	148928072	2	2	567	1	0	0	0	0	0	0	0	1	3789	1606	56	3		3	CP	3	148928072	Silent	SNP	T	TCGA-CW-6090-01A-11D-1669-08	29560773	148928072	49094358	23	30669											
QDPR	5860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	17506031	17506031	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:17506031C>T	ENST00000281243.5	-	3	445	c.266G>A	c.(265-267)gGa>gAa	p.G89E	QDPR_ENST00000508623.1_Missense_Mutation_p.G89E|QDPR_ENST00000513615.1_Missense_Mutation_p.G89E|QDPR_ENST00000428702.2_Missense_Mutation_p.G58E	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	89					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)	p.G89E(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCCGGCCCATCCTCCAGCAAC	0.468																																																1	Substitution - Missense(1)	kidney(1)											144	131	135					4																	17506031		2203	4300	6503	SO:0001583	missense	5860			AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"Short chain dehydrogenase/reductase superfamily / Atypical members"	9752	protein-coding gene	gene with protein product	"6,7-dihydropteridine reductase", "short chain dehydrogenase/reductase family 33C, member 1"	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.266G>A	4.37:g.17506031C>T	ENSP00000281243:p.Gly89Glu		A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	CCDS3421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.784146|4.784146	0.90282|0.90282	.|.	.|.	ENSG00000151552|ENSG00000151552	ENST00000505710|ENST00000513615;ENST00000281243;ENST00000428702;ENST00000508623	.|D;D;D;D	.|0.94828	.|-3.53;-2.26;-3.53;-3.53	5.5|5.5	5.5|5.5	0.81552|0.81552	.|NAD(P)-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98015|0.98015	0.9346|0.9346	M|M	0.94021|0.94021	3.485|3.485	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.98350|0.98350	1.0543|1.0543	5|10	.|0.51188	.|T	.|0.08	-0.05|-0.05	18.1678|18.1678	0.89734|0.89734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|58;89	.|B3KW71;P09417	.|.;DHPR_HUMAN	N|E	65|89;89;58;89	.|ENSP00000422759:G89E;ENSP00000281243:G89E;ENSP00000390944:G58E;ENSP00000426377:G89E	.|ENSP00000281243:G89E	D|G	-|-	1|2	0|0	QDPR|QDPR	17115129|17115129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	6.678000|6.678000	0.74508|0.74508	2.575000|2.575000	0.86900|0.86900	0.563000|0.563000	0.77884|0.77884	GAT|GGA		0.468	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		T	17506031	C	T	17506031	3	4	567	1	0	0	0	0	1	0	0	0	12878	855	30	2	488	2	QDPR	4	17506031	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08		17506031	173648245	24	30670											
SEL1L3	23231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	25834685	25834685	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:25834685C>T	ENST00000399878.3	-	5	1152	c.1030G>A	c.(1030-1032)Gta>Ata	p.V344I	SEL1L3_ENST00000264868.5_Missense_Mutation_p.V309I|SEL1L3_ENST00000502949.1_Missense_Mutation_p.V191I|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	344						integral component of membrane (GO:0016021)		p.V344I(1)|p.V191I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTAGTTTTTACAGCAAGGTCT	0.388																																																2	Substitution - Missense(2)	kidney(2)											120	117	118					4																	25834685		1909	4115	6024	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1030G>A	4.37:g.25834685C>T	ENSP00000382767:p.Val344Ile		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042139	0.93685	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.16897	2.31;2.31;2.31	5.88	5.88	0.94601	.	0.114667	0.64402	D	0.000018	T	0.31263	0.0791	L	0.60455	1.87	0.37891	D	0.930709	D	0.63046	0.992	P	0.52627	0.704	T	0.04115	-1.0976	10	0.62326	D	0.03	-20.4352	17.1608	0.86803	0.0:1.0:0.0:0.0	.	344	Q68CR1	SE1L3_HUMAN	I	344;309;191	ENSP00000382767:V344I;ENSP00000264868:V309I;ENSP00000425438:V191I	ENSP00000264868:V309I	V	-	1	0	SEL1L3	25443783	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.413000	0.59795	2.774000	0.95407	0.655000	0.94253	GTA		0.388	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		T	25834685	C	T	25834685	3	4	567	1	0	0	0	0	1	0	0	0	14018	478	17	2	2448	2	SEL1L3	4	25834685	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	8328654	25834685	165319591	25	30671											
RASGEF1B	153020	hgsc.bcm.edu	37	4	82366985	82366985	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:82366985T>C	ENST00000264400.2	-	7	888	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.Y204C|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.Y245C	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	246	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.Y246C(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CCGTTCACTGTAGCAACTCTT	0.378																																																1	Substitution - Missense(1)	kidney(1)											79	75	77					4																	82366985		2202	4300	6502	SO:0001583	missense	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.737A>G	4.37:g.82366985T>C	ENSP00000264400:p.Tyr246Cys		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.773966	0.49786	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.77620	-0.7;-0.71;-1.11;0.32	5.65	4.44	0.53790	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.280119	0.41396	D	0.000886	D	0.83778	0.5328	M	0.66439	2.03	0.80722	D	1	P;P;P	0.44659	0.808;0.808;0.84	P;P;P	0.58520	0.753;0.753;0.84	T	0.82382	-0.0485	10	0.39692	T	0.17	.	11.757	0.51880	0.1321:0.0:0.0:0.8679	.	204;245;246	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	C	245;246;204;91	ENSP00000425393:Y245C;ENSP00000264400:Y246C;ENSP00000338437:Y204C;ENSP00000426929:Y91C	ENSP00000264400:Y246C	Y	-	2	0	RASGEF1B	82586009	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	3.711000	0.54868	1.115000	0.41800	0.533000	0.62120	TAC		0.378	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		C	82366985	T	C	82366985	3	2	567	1	0	0	0	0	1	0	0	0	13076	1638	57	3	716	3	RASGEF1B	4	82366985	Missense_Mutation	SNP	T	TCGA-CW-6090-01A-11D-1669-08	56532300	82366985	108787291	26	30672											
LARP1B	55132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	129012653	129012653	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:129012653T>C	ENST00000326639.6	+	7	865	c.654T>C	c.(652-654)taT>taC	p.Y218Y	LARP1B_ENST00000441387.1_Silent_p.Y218Y|LARP1B_ENST00000394288.3_Silent_p.Y218Y|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Silent_p.Y171Y|LARP1B_ENST00000432347.2_Silent_p.Y218Y|LARP1B_ENST00000512292.1_Silent_p.Y218Y|LARP1B_ENST00000427266.1_Silent_p.Y218Y	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	218	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Y218Y(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTAAAGAGTATATTAAGCGTC	0.338																																																2	Substitution - coding silent(2)	kidney(2)											138	128	132					4																	129012653		2203	4300	6503	SO:0001819	synonymous_variant	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.654T>C	4.37:g.129012653T>C			Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Silent	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	T	8.372	0.835542	0.16820	.	.	ENSG00000138709	ENST00000507377	T	0.42900	0.96	4.01	0.411	0.16392	.	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11966	-1.0566	7	0.30854	T	0.27	.	8.1381	0.31067	0.0:0.5237:0.0:0.4763	.	.	.	.	H	187	ENSP00000424383:Y187H	ENSP00000424383:Y187H	Y	+	1	0	LARP1B	129232103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.068000	0.30629	0.240000	0.21263	0.454000	0.30748	TAT		0.338	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		C	129012653	T	C	129012653	2	2	567	1	0	0	0	0	0	0	0	1	8631	1413	49	3		3	LARP1B	4	129012653	Silent	SNP	T	TCGA-CW-6090-01A-11D-1669-08	46645668	129012653	62141623	27	30673											
KIAA0922	23240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	154504367	154504367	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:154504367A>G	ENST00000409663.3	+	10	970	c.918A>G	c.(916-918)atA>atG	p.I306M	KIAA0922_ENST00000440693.1_Missense_Mutation_p.I306M|KIAA0922_ENST00000409959.3_Missense_Mutation_p.I306M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	306						integral component of membrane (GO:0016021)		p.I306M(1)|p.I158M(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ATATGTATATATTACATTCAG	0.308																																																2	Substitution - Missense(2)	kidney(2)											84	95	91					4																	154504367		2202	4295	6497	SO:0001583	missense	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.918A>G	4.37:g.154504367A>G	ENSP00000386574:p.Ile306Met		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794874	0.31777	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.17691	2.51;2.26;2.5;2.26	6.02	-4.7	0.03288	.	0.408324	0.29638	N	0.011591	T	0.10208	0.0250	N	0.19112	0.55	0.09310	N	1	D;B;B	0.53885	0.963;0.174;0.209	P;B;B	0.51385	0.668;0.047;0.078	T	0.18745	-1.0327	10	0.34782	T	0.22	-6.2287	2.5632	0.04777	0.3231:0.327:0.2521:0.0978	.	306;306;306	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	M	306;306;306;167	ENSP00000386574:I306M;ENSP00000409663:I306M;ENSP00000386787:I306M;ENSP00000240487:I167M	ENSP00000240487:I167M	I	+	3	3	KIAA0922	154723817	0.021000	0.18746	0.020000	0.16555	0.866000	0.49608	-0.052000	0.11865	-0.693000	0.05121	-0.313000	0.08912	ATA		0.308	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		G	154504367	A	G	154504367	3	3	567	1	0	0	0	0	1	0	0	0	8203	439	16	3	956	3	KIAA0922	4	154504367	Missense_Mutation	SNP	A	TCGA-CW-6090-01A-11D-1669-08	25491714	154504367	36649909	28	30674											
ANXA10	11199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	169100409	169100409	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr4:169100409G>T	ENST00000359299.3	+	9	856	c.670G>T	c.(670-672)Gat>Tat	p.D224Y		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	224						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.D224Y(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGATATGGTAGATGCCATTAA	0.284																																																1	Substitution - Missense(1)	kidney(1)											64	66	65					4																	169100409		2203	4299	6502	SO:0001583	missense	11199			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.670G>T	4.37:g.169100409G>T	ENSP00000352248:p.Asp224Tyr		Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291080	0.80914	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.03689	3.84	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000003	T	0.17577	0.0422	M	0.69248	2.105	0.52099	D	0.999944	D;D	0.58620	0.983;0.979	D;P	0.64237	0.923;0.837	T	0.00004	-1.2567	10	0.87932	D	0	.	20.3002	0.98608	0.0:0.0:1.0:0.0	.	96;224	Q6ITU8;Q9UJ72	.;ANX10_HUMAN	Y	224	ENSP00000352248:D224Y	ENSP00000352248:D224Y	D	+	1	0	ANXA10	169336984	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	4.015000	0.57152	2.790000	0.95986	0.655000	0.94253	GAT		0.284	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		T	169100409	G	T	169100409	3	4	567	1	0	0	0	0	1	0	0	0	715	942	33	4	704	4	ANXA10	4	169100409	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	14596042	169100409	22053867	29	30675											
SLC6A3	6531	hgsc.bcm.edu;ucsc.edu	37	5	1443043	1443044	+	Frame_Shift_Ins	INS	-	-	CACA			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:1443043_1443044insCACA	ENST00000270349.9	-	2	396_397	c.269_270insTGTG	c.(268-270)tgcfs	p.-90fs	SLC6A3_ENST00000453492.2_Frame_Shift_Ins_p.-90fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3						adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CATTTTTGTAGCACAGGTAGGG	0.624																																																0																																										SO:0001589	frameshift_variant	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.266_269dupTGTG	5.37:g.1443044_1443047dupCACA	ENSP00000270349:p.Cys90fs		A2RUN4|Q14996	Frame_Shift_Ins	INS	ENST00000270349.9	37	CCDS3863.1																																																																																				0.624	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		CACA	1443044	-	CACA	1443043	7	5	567	1	0	1	1	0	0	0	0	0	14691	963	34	0	1648	0	SLC6A3	5	1443043	Frame_Shift_Ins	INS	-	TCGA-CW-6090-01A-11D-1669-08		1443043	179472217	30	30676											
MAP1B	4131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	71494891	71494891	+	Silent	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:71494891C>A	ENST00000296755.7	+	5	6007	c.5709C>A	c.(5707-5709)ggC>ggA	p.G1903G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1903					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.G1903G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATGTGGGTGGCTATTACTATG	0.458																																					Melanoma(17;367 822 11631 31730 47712)											1	Substitution - coding silent(1)	kidney(1)											61	66	64					5																	71494891		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5709C>A	5.37:g.71494891C>A			A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.458	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		A	71494891	C	A	71494891	2	1	567	1	0	0	0	0	0	0	0	1	9230	784	28	4		4	MAP1B	5	71494891	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	70051848	71494891	109420369	31	30677											
MCC	4163	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112437520	112437520	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:112437520C>T	ENST00000302475.4	-	6	1307	c.744G>A	c.(742-744)atG>atA	p.M248I	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.M185I|MCC_ENST00000408903.3_Missense_Mutation_p.M438I	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	248					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.M438I(1)|p.M248I(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGCTGCACAGCATGGCAGTCA	0.602																																																2	Substitution - Missense(2)	kidney(2)											134	129	131					5																	112437520		2202	4300	6502	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.744G>A	5.37:g.112437520C>T	ENSP00000305617:p.Met248Ile		D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844249	0.71488	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.49432	0.78;0.78;0.78	5.4	5.4	0.78164	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	N	0.14661	0.345	0.58432	D	0.999999	P;P;P	0.40180	0.705;0.656;0.705	P;P;P	0.52758	0.708;0.679;0.708	T	0.51309	-0.8722	10	0.46703	T	0.11	-34.17	19.5418	0.95277	0.0:1.0:0.0:0.0	.	248;438;248	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	I	248;185;438	ENSP00000305617:M248I;ENSP00000421615:M185I;ENSP00000386227:M438I	ENSP00000305617:M248I	M	-	3	0	MCC	112465419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.180000	0.71981	2.684000	0.91462	0.655000	0.94253	ATG		0.602	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		T	112437520	C	T	112437520	3	4	567	1	0	0	0	0	1	0	0	0	9375	710	25	2	1793	2	MCC	5	112437520	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	40942629	112437520	68477740	32	30678											
PPP2R2B	5521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145969638	145969638	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:145969638C>A	ENST00000394413.3	-	9	1774	c.1204G>T	c.(1204-1206)Gac>Tac	p.D402Y	PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D402Y|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D408Y|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D468Y|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D391Y|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D402Y|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D402Y|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D405Y|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D460Y|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D391Y			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	402					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.D460Y(1)|p.D391Y(1)|p.D402Y(1)|p.D405Y(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGATCTCGTCTTTTCTCCGC	0.498																																																4	Substitution - Missense(4)	kidney(4)											157	165	162					5																	145969638		2203	4300	6503	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1204G>T	5.37:g.145969638C>A	ENSP00000377935:p.Asp402Tyr		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396473	0.62177	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	6.06	6.06	0.98353	WD40 repeat-like-containing domain (1);	0.044731	0.85682	D	0.000000	T	0.51686	0.1689	M	0.76574	2.34	0.80722	D	1	P;P;P;P;B;P	0.45827	0.867;0.867;0.778;0.867;0.108;0.867	P;P;P;P;B;P	0.51895	0.59;0.683;0.594;0.59;0.02;0.594	T	0.48768	-0.9006	10	0.62326	D	0.03	-15.7231	20.6208	0.99490	0.0:1.0:0.0:0.0	.	460;408;391;468;405;402	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	Y	402;391;468;402;402;402;391;405;408;460	ENSP00000377935:D402Y;ENSP00000431320:D391Y;ENSP00000377936:D468Y;ENSP00000377933:D402Y;ENSP00000349283:D402Y;ENSP00000398779:D402Y;ENSP00000377932:D391Y;ENSP00000336591:D405Y;ENSP00000421396:D408Y;ENSP00000377931:D460Y	ENSP00000336591:D405Y	D	-	1	0	AC011357.1	145949831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	GAC		0.498	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		A	145969638	C	A	145969638	3	1	567	1	0	0	0	0	1	0	0	0	12390	913	32	4	131	4	PPP2R2B	5	145969638	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	33532118	145969638	34945622	33	30679											
ABLIM3	22885	broad.mit.edu;hgsc.bcm.edu	37	5	148590289	148590289	+	Splice_Site	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:148590289G>T	ENST00000506113.1	+	6	1058	c.576G>T	c.(574-576)aaG>aaT	p.K192N	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Splice_Site_p.K192N|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Splice_Site_p.K192N|ABLIM3_ENST00000326685.7_Splice_Site_p.K192N|ABLIM3_ENST00000356541.3_Splice_Site_p.K192N|ABLIM3_ENST00000309868.7_Splice_Site_p.K192N			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	192	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.K192N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTGCAGGGATGGTGTTC	0.493																																																1	Substitution - Missense(1)	kidney(1)											200	158	173					5																	148590289		2203	4300	6503	SO:0001630	splice_region_variant	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.576-1G>T	5.37:g.148590289G>T			A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195816	0.58126	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	6.07	3.34	0.38264	Zinc finger, LIM-type (4);	0.095581	0.64402	D	0.000001	D	0.91998	0.7465	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.91635	0.993;0.995;0.999	D	0.90232	0.4280	9	.	.	.	.	9.6635	0.39969	0.2645:0.0:0.7355:0.0	.	192;192;192	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	N	192	ENSP00000315841:K192N;ENSP00000348938:K192N;ENSP00000310309:K192N;ENSP00000425394:K192N;ENSP00000421183:K192N;ENSP00000420855:K192N	.	K	+	3	2	ABLIM3	148570482	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	2.686000	0.46968	0.449000	0.26747	-0.136000	0.14681	AAG		0.493	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	Missense_Mutation	T	148590289	G	T	148590289	5	4	567	1	0	0	0	0	0	0	1	0	96	1246	43	4	598	4	ABLIM3	5	148590289	Splice_Site	SNP	G	TCGA-CW-6090-01A-11D-1669-08	2620651	148590289	32324971	34	30680											
BTNL3	10917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180424374	180424374	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr5:180424374A>C	ENST00000342868.6	+	3	743	c.559A>C	c.(559-561)Agc>Cgc	p.S187R		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	187	Ig-like V-type.					integral component of membrane (GO:0016021)		p.S187R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGATGGGTACAGCCTGTATGA	0.512																																																1	Substitution - Missense(1)	kidney(1)											107	97	101					5																	180424374		2142	3938	6080	SO:0001583	missense	10917			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.559A>C	5.37:g.180424374A>C	ENSP00000341787:p.Ser187Arg		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	A	9.318	1.057202	0.19907	.	.	ENSG00000168903	ENST00000342868	T	0.39406	1.08	3.94	-1.2	0.09554	Immunoglobulin-like (1);	.	.	.	.	T	0.22166	0.0534	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.17098	0.017	T	0.17410	-1.0370	9	0.72032	D	0.01	.	5.3191	0.15872	0.3405:0.1404:0.5191:0.0	.	187	Q6UXE8	BTNL3_HUMAN	R	187	ENSP00000341787:S187R	ENSP00000341787:S187R	S	+	1	0	BTNL3	180356980	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.132000	0.10467	-0.403000	0.07622	-0.437000	0.05841	AGC		0.512	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		C	180424374	A	C	180424374	3	2	567	1	0	0	0	0	1	0	0	0	1568	188	7	5	569	5	BTNL3	5	180424374	Missense_Mutation	SNP	A	TCGA-CW-6090-01A-11D-1669-08	31834085	180424374	490886	35	30681											
RREB1	6239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7229380	7229380	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:7229380G>A	ENST00000349384.6	+	10	1362	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	RREB1_ENST00000334984.6_Missense_Mutation_p.A350T|RREB1_ENST00000379938.2_Missense_Mutation_p.A350T|RREB1_ENST00000379933.3_Missense_Mutation_p.A350T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	350					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A350T(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AAAGCCGCAGGCCACGCCCCT	0.652																																																2	Substitution - Missense(2)	kidney(2)											31	32	31					6																	7229380		2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1048G>A	6.37:g.7229380G>A	ENSP00000305560:p.Ala350Thr		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	1.121	-0.655395	0.03480	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.10477	3.02;2.97;3.02;2.87;3.0	5.7	1.41	0.22369	.	0.533755	0.16719	N	0.202343	T	0.02047	0.0064	L	0.43923	1.385	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.14578	0.011;0.003;0.008	T	0.45011	-0.9290	10	0.15952	T	0.53	-17.6116	2.2648	0.04076	0.1545:0.1052:0.3601:0.3802	.	350;350;350	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	T	350	ENSP00000369265:A350T;ENSP00000369270:A350T;ENSP00000305560:A350T;ENSP00000335574:A350T;ENSP00000419511:A350T	ENSP00000335574:A350T	A	+	1	0	RREB1	7174379	0.016000	0.18221	0.022000	0.16811	0.258000	0.26162	0.208000	0.17415	0.742000	0.32697	0.455000	0.32223	GCC		0.652	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			A	7229380	G	A	7229380	3	1	567	1	0	0	0	0	1	0	0	0	13685	1203	42	2	1074	2	RREB1	6	7229380	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08		7229380	163885687	36	30682											
GCNT2	2651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10586869	10586869	+	Intron	DEL	C	C	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:10586869delC	ENST00000379597.3	+	2	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000265012.4_Frame_Shift_Del_p.T216fs|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAAAATATCACCCCAGGGGTG	0.433																																																0													72	76	75					6																	10586869		2203	4300	6503	SO:0001627	intron_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-34715C>-	6.37:g.10586869delC				Frame_Shift_Del	DEL	ENST00000379597.3	37	CCDS34338.1																																																																																				0.433	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		-	10586869	C	-	10586869	6	5	567	0	1	1	0	1	0	0	0	0	6303	507	18	0		0	GCNT2	6	10586869	Intron	DEL	C	TCGA-CW-6090-01A-11D-1669-08	3357489	10586869	160528198	37	30683											
SOX4	6659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	21594792	21594792	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:21594792G>C	ENST00000244745.1	+	1	821	c.27G>C	c.(25-27)gaG>gaC	p.E9D	SOX4_ENST00000543472.1_Missense_Mutation_p.E9D	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	9					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E9D(1)		kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			ACAATGCCGAGAACACGGAAG	0.761																																																1	Substitution - Missense(1)	kidney(1)											9	10	10					6																	21594792		2092	4078	6170	SO:0001583	missense	6659			AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.27G>C	6.37:g.21594792G>C	ENSP00000244745:p.Glu9Asp			Missense_Mutation	SNP	ENST00000244745.1	37	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265700	0.80358	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.98075	-4.7;-4.7	5.0	5.0	0.66597	.	0.462322	0.20818	U	0.085112	D	0.97845	0.9292	L	0.58583	1.82	0.40144	D	0.976864	D	0.76494	0.999	D	0.63793	0.918	D	0.98417	1.0575	10	0.52906	T	0.07	.	17.0721	0.86577	0.0:0.0:1.0:0.0	.	9	Q06945	SOX4_HUMAN	D	9	ENSP00000244745:E9D;ENSP00000438412:E9D	ENSP00000244745:E9D	E	+	3	2	SOX4	21702771	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.158000	0.58150	2.305000	0.77605	0.555000	0.69702	GAG		0.761	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		C	21594792	G	C	21594792	3	2	567	1	0	0	0	0	1	0	0	0	14959	933	33	4	29	4	SOX4	6	21594792	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	11007923	21594792	149520275	38	30684											
TDRD6	221400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46660119	46660119	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:46660119C>T	ENST00000316081.6	+	1	4254	c.4254C>T	c.(4252-4254)tgC>tgT	p.C1418C	TDRD6_ENST00000544460.1_Silent_p.C1418C	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1418					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.C1418C(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCATTCATTGCTCCTTGCAGG	0.393																																																1	Substitution - coding silent(1)	kidney(1)											179	185	183					6																	46660119		2203	4299	6502	SO:0001819	synonymous_variant	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4254C>T	6.37:g.46660119C>T			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	CCDS34470.1																																																																																				0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		T	46660119	C	T	46660119	2	4	567	1	0	0	0	0	0	0	0	1	15739	805	28	2		2	TDRD6	6	46660119	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	25065327	46660119	124454948	39	30685											
GPR116	221395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46830726	46830726	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:46830726T>G	ENST00000283296.7	-	15	2386	c.2098A>C	c.(2098-2100)Att>Ctt	p.I700L	GPR116_ENST00000362015.4_Missense_Mutation_p.I700L|GPR116_ENST00000545669.1_Missense_Mutation_p.I129L|GPR116_ENST00000456426.2_Missense_Mutation_p.I558L|GPR116_ENST00000265417.7_Missense_Mutation_p.I700L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	700					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I700L(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTCCCGCCAATGGGACTCTCA	0.532																																					NSCLC(59;410 1274 8751 36715 50546)											1	Substitution - Missense(1)	kidney(1)											102	104	103					6																	46830726		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2098A>C	6.37:g.46830726T>G	ENSP00000283296:p.Ile700Leu		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	1.368	-0.586966	0.03827	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.25250	1.83;2.21;1.85;1.83;1.81	4.36	-8.73	0.00841	.	1.416530	0.04358	N	0.356982	T	0.06188	0.0160	L	0.54323	1.7	0.09310	N	1	B;B;B;B;B	0.13145	0.0;0.0;0.001;0.007;0.001	B;B;B;B;B	0.14023	0.001;0.001;0.002;0.01;0.002	T	0.12682	-1.0538	10	0.16420	T	0.52	-0.3067	8.7951	0.34874	0.0:0.3959:0.273:0.3311	.	129;255;700;558;700	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	L	700;700;700;558;71;700;129	ENSP00000283296:I700L;ENSP00000354563:I700L;ENSP00000412866:I558L;ENSP00000265417:I700L;ENSP00000441581:I129L	ENSP00000265417:I700L	I	-	1	0	GPR116	46938685	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.560000	0.05964	-2.612000	0.00445	-1.814000	0.00607	ATT		0.532	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		G	46830726	T	G	46830726	3	3	567	1	0	0	0	0	1	0	0	0	6635	1464	51	5	1970	5	GPR116	6	46830726	Missense_Mutation	SNP	T	TCGA-CW-6090-01A-11D-1669-08	170607	46830726	124284341	40	30686											
PRDM1	639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	106553602	106553602	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr6:106553602G>A	ENST00000369096.4	+	5	1801	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T	PRDM1_ENST00000369091.2_Missense_Mutation_p.A487T|PRDM1_ENST00000369089.3_Missense_Mutation_p.A389T	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	523					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A487T(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GGGAACAGCCGCCACGGCAGA	0.612			"D, N, Mis, F, S"		DLBCL																																		Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	1	Substitution - Missense(1)	kidney(1)											28	32	31					6																	106553602		2203	4300	6503	SO:0001583	missense	639				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1567G>A	6.37:g.106553602G>A	ENSP00000358092:p.Ala523Thr		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624792	0.87560	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.08896	3.06;3.04;3.05	5.74	4.86	0.63082	.	0.092749	0.85682	D	0.000000	T	0.15609	0.0376	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.69479	0.964;0.922	T	0.01824	-1.1266	10	0.33141	T	0.24	-26.3198	16.6682	0.85258	0.0:0.1299:0.8701:0.0	.	389;523	Q86WM7;O75626	.;PRDM1_HUMAN	T	487;523;486;389	ENSP00000358087:A487T;ENSP00000358092:A523T;ENSP00000358085:A389T	ENSP00000358085:A389T	A	+	1	0	PRDM1	106660295	1.000000	0.71417	0.916000	0.36221	0.967000	0.64934	7.626000	0.83164	1.399000	0.46721	0.655000	0.94253	GCC		0.612	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			A	106553602	G	A	106553602	3	1	567	1	0	0	0	0	1	0	0	0	12455	1087	38	1	1598	1	PRDM1	6	106553602	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	59722876	106553602	64561465	41	30687											
TNRC18	84629	broad.mit.edu;ucsc.edu	37	7	5391571	5391571	+	Silent	SNP	C	C	T	rs186010377	byFrequency	TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr7:5391571C>T	ENST00000430969.1	-	17	5697	c.5349G>A	c.(5347-5349)gcG>gcA	p.A1783A	TNRC18_ENST00000399537.4_Silent_p.A1783A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1783							chromatin binding (GO:0003682)	p.A1783A(2)|p.A838A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCGGGGGGCCGCCAGGCCCC	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		13223	0.003		0.0	False		,,,				2504	0.0															3	Substitution - coding silent(3)	kidney(3)											18	19	19					7																	5391571		1567	3581	5148	SO:0001819	synonymous_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5349G>A	7.37:g.5391571C>T			A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																				0.637	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5391571	C	T	5391571	2	4	567	1	0	0	0	0	0	0	0	1	16344	639	23	1		1	TNRC18	7	5391571	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08		5391571	153747092	42	30688											
SP8	221833	broad.mit.edu	37	7	20824858	20824858	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr7:20824858delA	ENST00000361443.4	-	3	761	c.524delT	c.(523-525)atcfs	p.I175fs	SP8_ENST00000418710.2_Frame_Shift_Del_p.I193fs	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	175					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCGGGTAGATGCCCTGCAG	0.736																																																0													7	8	8					7																	20824858		1764	3507	5271	SO:0001589	frameshift_variant	221833				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.524delT	7.37:g.20824858delA	ENSP00000354482:p.Ile175fs		Q7Z615|Q7Z616|Q96MJ1	Frame_Shift_Del	DEL	ENST00000361443.4	37	CCDS5372.1																																																																																				0.736	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			-	20824858	A	-	20824858	7	5	567	1	0	1	0	1	0	0	0	0	14976	333	12	0	952	0	SP8	7	20824858	Frame_Shift_Del	DEL	A	TCGA-CW-6090-01A-11D-1669-08	15433287	20824858	138313805	43	30689											
BBS9	27241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	33376135	33376135	+	Missense_Mutation	SNP	C	C	G	rs377289479		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr7:33376135C>G	ENST00000242067.6	+	10	1620	c.1099C>G	c.(1099-1101)Caa>Gaa	p.Q367E	BBS9_ENST00000350941.3_Missense_Mutation_p.Q367E|BBS9_ENST00000354265.4_Missense_Mutation_p.Q367E|BBS9_ENST00000396127.2_Missense_Mutation_p.Q367E|BBS9_ENST00000355070.2_Missense_Mutation_p.Q367E	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	367					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.Q367E(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTCTGTTCCAAGCTCCAAA	0.383									Bardet-Biedl syndrome																																							2	Substitution - Missense(2)	kidney(2)											100	89	93					7																	33376135		2203	4300	6503	SO:0001583	missense	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1099C>G	7.37:g.33376135C>G	ENSP00000242067:p.Gln367Glu		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466381	0.43839	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000537775	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.54	5.54	0.83059	.	0.334930	0.32819	N	0.005611	D	0.84642	0.5517	M	0.63843	1.955	0.80722	D	1	P;P;P;P	0.34587	0.458;0.458;0.458;0.458	B;B;B;B	0.41271	0.352;0.352;0.352;0.352	T	0.81780	-0.0776	10	0.29301	T	0.29	-13.2239	19.4774	0.94994	0.0:1.0:0.0:0.0	.	367;367;367;367	Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;PTHB1_HUMAN	E	367;367;367;367;367;367;367;245	ENSP00000242067:Q367E;ENSP00000313122:Q367E;ENSP00000379433:Q367E;ENSP00000347182:Q367E;ENSP00000346214:Q367E	ENSP00000242067:Q367E	Q	+	1	0	BBS9	33342660	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	3.375000	0.52410	2.604000	0.88044	0.467000	0.42956	CAA		0.383	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			G	33376135	C	G	33376135	3	3	567	1	0	0	0	0	1	0	0	0	1342	595	21	4	1133	4	BBS9	7	33376135	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	12551277	33376135	125762528	44	30690											
SEPT14	346288	broad.mit.edu;hgsc.bcm.edu	37	7	55886846	55886846	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr7:55886846C>T	ENST00000388975.3	-	7	907	c.791G>A	c.(790-792)cGt>cAt	p.R264H		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	264	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.R53H(1)|p.R264H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGGGTAGTGACGGCCTCTGAC	0.403																																																2	Substitution - Missense(2)	kidney(2)											66	56	60					7																	55886846		2203	4299	6502	SO:0001583	missense	0			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.791G>A	7.37:g.55886846C>T	ENSP00000373627:p.Arg264His		A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315215	0.81358	.	.	ENSG00000154997	ENST00000388975	T	0.69685	-0.42	3.85	3.85	0.44370	.	0.102871	0.42053	D	0.000778	D	0.88463	0.6443	H	0.98883	4.36	0.50632	D	0.999889	D	0.89917	1.0	D	0.87578	0.998	D	0.92590	0.6082	10	0.87932	D	0	.	13.6577	0.62348	0.0:1.0:0.0:0.0	.	264	Q6ZU15	SEP14_HUMAN	H	264	ENSP00000373627:R264H	ENSP00000373627:R264H	R	-	2	0	SEPT14	55854340	0.996000	0.38824	0.966000	0.40874	0.990000	0.78478	3.438000	0.52871	2.130000	0.65690	0.563000	0.77884	CGT		0.403	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		T	55886846	C	T	55886846	3	4	567	1	0	0	0	0	1	0	0	0	14069	536	19	1	523	1	SEPT14	7	55886846	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	22510711	55886846	103251817	45	30691											
AKR1B1	231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134134487	134134487	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr7:134134487delA	ENST00000285930.4	-	4	493	c.414delT	c.(412-414)attfs	p.I138fs	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	138					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	ACGTGTCCAGAATGTTGGTGT	0.458																																																0													189	170	176					7																	134134487		2203	4300	6503	SO:0001589	frameshift_variant	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"Aldo-keto reductases"	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.414delT	7.37:g.134134487delA	ENSP00000285930:p.Ile138fs		B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Frame_Shift_Del	DEL	ENST00000285930.4	37	CCDS5831.1																																																																																				0.458	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		-	134134487	A	-	134134487	7	5	567	1	0	1	0	1	0	0	0	0	466	242	9	0	564	0	AKR1B1	7	134134487	Frame_Shift_Del	DEL	A	TCGA-CW-6090-01A-11D-1669-08	78247641	134134487	25004176	46	30692											
FGFR1	2260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38272389	38272389	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr8:38272389C>G	ENST00000447712.2	-	14	2826	c.1885G>C	c.(1885-1887)Gtc>Ctc	p.V629L	FGFR1_ENST00000397108.4_Missense_Mutation_p.V627L|FGFR1_ENST00000397091.5_Missense_Mutation_p.V627L|FGFR1_ENST00000397113.2_Missense_Mutation_p.V627L|FGFR1_ENST00000425967.3_Missense_Mutation_p.V660L|FGFR1_ENST00000397103.1_Missense_Mutation_p.V540L|FGFR1_ENST00000532791.1_Missense_Mutation_p.V627L|FGFR1_ENST00000356207.5_Missense_Mutation_p.V540L|FGFR1_ENST00000341462.5_Missense_Mutation_p.V629L|FGFR1_ENST00000335922.5_Missense_Mutation_p.V619L|FGFR1_ENST00000326324.6_Missense_Mutation_p.V538L	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	629	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.V629L(3)|p.V619L(1)	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)	GTCACCAGGACATTCCTGGCT	0.577		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	4	Substitution - Missense(4)	kidney(4)											81	83	83					8																	38272389		2137	4275	6412	SO:0001583	missense	2260			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.1885G>C	8.37:g.38272389C>G	ENSP00000400162:p.Val629Leu		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.793223|5.793223	0.96952|0.96952	.|.	.|.	ENSG00000077782|ENSG00000077782	ENST00000310729|ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	.|D;D;D;D;D;D;D;D;D;D;D	.|0.91686	.|-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89	5.9|5.9	5.9|5.9	0.94986|0.94986	.|Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94974|0.94974	0.8374|0.8374	L|L	0.46567|0.46567	1.45|1.45	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.69078	.|0.996;0.996;0.997;0.993;0.996	.|D;D;D;D;D	.|0.79784	.|0.987;0.983;0.993;0.987;0.987	D|D	0.94937|0.94937	0.8088|0.8088	6|10	0.87932|0.87932	D|D	0|0	.|.	20.2704|20.2704	0.98474|0.98474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|538;538;629;619;627	.|P11362-14;P11362-4;P11362;P11362-20;P11362-2	.|.;.;FGFR1_HUMAN;.;.	S|L	637|627;660;629;629;627;627;540;619;538;540;627	.|ENSP00000380280:V627L;ENSP00000393312:V660L;ENSP00000400162:V629L;ENSP00000340636:V629L;ENSP00000432972:V627L;ENSP00000380302:V627L;ENSP00000348537:V540L;ENSP00000337247:V619L;ENSP00000327229:V538L;ENSP00000380292:V540L;ENSP00000380297:V627L	ENSP00000311337:C637S|ENSP00000327229:V538L	C|V	-|-	2|1	0|0	FGFR1|FGFR1	38391546|38391546	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.970000|0.970000	0.65996|0.65996	7.818000|7.818000	0.86416|0.86416	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	TGT|GTC		0.577	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				G	38272389	C	G	38272389	3	3	567	1	0	0	0	0	1	0	0	0	5865	478	17	4	603	4	FGFR1	8	38272389	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08		38272389	108091633	47	30693											
RP1	6101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	55542521	55542521	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr8:55542521G>A	ENST00000220676.1	+	4	6227	c.6079G>A	c.(6079-6081)Gat>Aat	p.D2027N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2027					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.D2027N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTTCAACCAGATTTGAAGGA	0.338																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	kidney(1)											82	87	85					8																	55542521		2202	4299	6501	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6079G>A	8.37:g.55542521G>A	ENSP00000220676:p.Asp2027Asn			Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	1.169	-0.641453	0.03531	.	.	ENSG00000104237	ENST00000220676	T	0.20738	2.05	5.82	0.76	0.18442	.	0.442134	0.19270	N	0.118438	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30060	-0.9991	10	0.17832	T	0.49	.	1.8638	0.03194	0.132:0.1221:0.2935:0.4524	.	2027	P56715	RP1_HUMAN	N	2027	ENSP00000220676:D2027N	ENSP00000220676:D2027N	D	+	1	0	RP1	55705074	0.000000	0.05858	0.100000	0.21137	0.007000	0.05969	-0.276000	0.08514	0.111000	0.17947	-1.083000	0.02208	GAT		0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		A	55542521	G	A	55542521	3	1	567	1	0	0	0	0	1	0	0	0	13538	942	33	2	6089	2	RP1	8	55542521	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	17270132	55542521	90821501	48	30694											
CNGB3	54714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87591035	87591035	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr8:87591035A>T	ENST00000320005.5	-	17	2032	c.1985T>A	c.(1984-1986)cTt>cAt	p.L662H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	662					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.L662H(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GAGGAGGGCAAGATCTTTTCT	0.453																																																1	Substitution - Missense(1)	kidney(1)											128	129	129					8																	87591035		2203	4300	6503	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1985T>A	8.37:g.87591035A>T	ENSP00000316605:p.Leu662His		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	1.800	-0.477353	0.04414	.	.	ENSG00000170289	ENST00000517327;ENST00000320005	T;T	0.78246	-1.16;-0.12	5.3	1.6	0.23607	.	0.826828	0.10489	N	0.668592	T	0.64800	0.2631	L	0.42245	1.32	0.09310	N	1	B;B	0.19583	0.037;0.022	B;B	0.23419	0.046;0.02	T	0.47045	-0.9147	10	0.13853	T	0.58	.	3.6985	0.08374	0.6585:0.137:0.0735:0.131	.	657;662	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	H	53;662	ENSP00000428329:L53H;ENSP00000316605:L662H	ENSP00000316605:L662H	L	-	2	0	CNGB3	87660151	0.035000	0.19736	0.117000	0.21633	0.401000	0.30781	2.774000	0.47694	0.039000	0.15632	0.383000	0.25322	CTT		0.453	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		T	87591035	A	T	87591035	3	4	567	1	0	0	0	0	1	0	0	0	3603	72	3	5	452	5	CNGB3	8	87591035	Missense_Mutation	SNP	A	TCGA-CW-6090-01A-11D-1669-08	32048514	87591035	58772987	49	30695											
GPT	2875	hgsc.bcm.edu	37	8	145732305	145732306	+	Frame_Shift_Ins	INS	-	-	C	rs369193887		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr8:145732305_145732306insC	ENST00000528431.1	+	12	1570_1571	c.1413_1414insC	c.(1414-1416)cccfs	p.P472fs	MFSD3_ENST00000301327.4_5'Flank|GPT_ENST00000394955.2_Frame_Shift_Ins_p.P472fs			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	472					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	TGACCATTCTGCCCCCCTTGGA	0.624																																																0																																										SO:0001589	frameshift_variant	2875				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1419dupC	8.37:g.145732311_145732311dupC	ENSP00000433586:p.Pro472fs		B0YJ18|D3DWM7|P78398|Q93076	Frame_Shift_Ins	INS	ENST00000528431.1	37	CCDS6430.1																																																																																				0.624	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			C	145732306	-	C	145732305	7	5	567	1	0	1	1	0	0	0	0	0	6739	1306	46	0	1455	0	GPT	8	145732305	Frame_Shift_Ins	INS	-	TCGA-CW-6090-01A-11D-1669-08	58141270	145732305	631717	50	30696											
VLDLR	7436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2652826	2652826	+	Missense_Mutation	SNP	T	T	A	rs140801553		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr9:2652826T>A	ENST00000382100.3	+	18	2819	c.2463T>A	c.(2461-2463)aaT>aaA	p.N821K	VLDLR_ENST00000382099.2_Missense_Mutation_p.N793K	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	821					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.N821K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGTGGCGGAATTGGCAACACA	0.428																																																1	Substitution - Missense(1)	kidney(1)											178	151	160					9																	2652826		2203	4300	6503	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2463T>A	9.37:g.2652826T>A	ENSP00000371532:p.Asn821Lys		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569621	0.86439	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	T;T	0.72167	-0.63;-0.63	5.58	-8.41	0.00961	.	0.000000	0.56097	D	0.000026	T	0.77110	0.4082	L	0.46670	1.46	0.49798	D	0.999828	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.80077	-0.1533	10	0.56958	D	0.05	.	23.2641	0.99981	0.0:0.7813:0.0:0.2187	.	793;793;821	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	K	821;793;700	ENSP00000371532:N821K;ENSP00000371531:N793K	ENSP00000371524:N700K	N	+	3	2	VLDLR	2642826	0.328000	0.24687	0.725000	0.30721	0.998000	0.95712	-0.254000	0.08781	-1.644000	0.01517	0.482000	0.46254	AAT		0.428	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		A	2652826	T	A	2652826	3	1	567	1	0	0	0	0	1	0	0	0	17179	1490	52	5	2533	5	VLDLR	9	2652826	Missense_Mutation	SNP	T	TCGA-CW-6090-01A-11D-1669-08		2652826	138560605	51	30697											
DNAJC25-GNG10	2790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	114429212	114429212	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr9:114429212T>C	ENST00000374293.4	+	2	499	c.199T>C	c.(199-201)Tta>Cta	p.L67L	DNAJC25-GNG10_ENST00000374294.3_Silent_p.L152L|DNAJC25_ENST00000556107.1_Silent_p.L152L	NM_001017998.3|NM_001198664.1	NP_001017998.1|NP_001185593.1	P50151	GBG10_HUMAN	guanine nucleotide binding protein (G protein), gamma 10	67					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.L152L(1)|p.L67L(1)		kidney(1)	1						ATCCTGTGCTTTACTCTGAAG	0.493																																																2	Substitution - coding silent(2)	kidney(2)											67	58	61					9																	114429212		2203	4300	6503	SO:0001819	synonymous_variant	552891				CCDS35107.1	9q31.3	2010-08-17			ENSG00000242616	ENSG00000242616			4402	protein-coding gene	gene with protein product		604389				7665596	Standard	NM_001017998		Approved			P50151	OTTHUMG00000157193	ENST00000374293.4:c.199T>C	9.37:g.114429212T>C			Q3B7K2|Q4VC27	Silent	SNP	ENST00000374293.4	37	CCDS35107.1																																																																																				0.493	GNG10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053644.2			C	114429212	T	C	114429212	2	2	567	1	0	0	0	0	0	0	0	1	4646	1838	64	3		3	DNAJC25-GNG10	9	114429212	Silent	SNP	T	TCGA-CW-6090-01A-11D-1669-08	111776386	114429212	26784219	52	30698											
SCAI	286205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	127733961	127733961	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr9:127733961G>A	ENST00000336505.6	-	16	1620	c.1562C>T	c.(1561-1563)tCa>tTa	p.S521L	SCAI_ENST00000373549.4_Missense_Mutation_p.S544L	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	521					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.S544L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TATTGAACGTGAATGAGTCAG	0.363																																																1	Substitution - Missense(1)	kidney(1)											188	171	176					9																	127733961		1881	4110	5991	SO:0001583	missense	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1562C>T	9.37:g.127733961G>A	ENSP00000336756:p.Ser521Leu		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077648	0.55753	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.50277	0.75;0.75	4.94	4.94	0.65067	.	0.132741	0.52532	D	0.000063	T	0.68238	0.2979	M	0.74881	2.28	0.58432	D	0.999993	D;D	0.59357	0.985;0.981	D;D	0.69824	0.966;0.962	T	0.68006	-0.5523	10	0.39692	T	0.17	-8.0307	17.5387	0.87841	0.0:0.0:1.0:0.0	.	521;544	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	L	521;544	ENSP00000336756:S521L;ENSP00000362650:S544L	ENSP00000336756:S521L	S	-	2	0	SCAI	126773782	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.996000	0.93539	2.461000	0.83175	0.650000	0.86243	TCA		0.363	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		A	127733961	G	A	127733961	3	1	567	1	0	0	0	0	1	0	0	0	13875	1294	45	2	270	2	SCAI	9	127733961	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	13304749	127733961	13479470	53	30699											
SPTAN1	6709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131331096	131331096	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr9:131331096A>T	ENST00000372731.4	+	3	393	c.283A>T	c.(283-285)Aac>Tac	p.N95Y	SPTAN1_ENST00000358161.5_Missense_Mutation_p.N95Y|SPTAN1_ENST00000372739.3_Missense_Mutation_p.N95Y	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	95					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.N95Y(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGTGCAGGCCAACTCAGGAGC	0.483																																					NSCLC(120;833 1744 2558 35612 37579)											1	Substitution - Missense(1)	kidney(1)											113	96	102					9																	131331096		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.283A>T	9.37:g.131331096A>T	ENSP00000361816:p.Asn95Tyr		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.707072	0.89018	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.33438	1.41;1.41;1.41	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.994;0.995;0.999	D;D;P;D;D	0.87578	0.968;0.998;0.811;0.932;0.973	T	0.59568	-0.7430	10	0.62326	D	0.03	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	95;95;95;95;95	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	Y	95	ENSP00000350882:N95Y;ENSP00000361816:N95Y;ENSP00000361824:N95Y	ENSP00000350882:N95Y	N	+	1	0	SPTAN1	130370917	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.910000	0.92685	2.371000	0.80710	0.533000	0.62120	AAC		0.483	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		T	131331096	A	T	131331096	3	4	567	1	0	0	0	0	1	0	0	0	15122	130	5	5	289	5	SPTAN1	9	131331096	Missense_Mutation	SNP	A	TCGA-CW-6090-01A-11D-1669-08	3597135	131331096	9882335	54	30700											
NTNG2	84628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	135102354	135102354	+	Silent	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr9:135102354C>A	ENST00000393229.3	+	4	1752	c.976C>A	c.(976-978)Cgg>Agg	p.R326R	NTNG2_ENST00000372179.3_Silent_p.R326R|NTNG2_ENST00000393228.4_Silent_p.R326R|NTNG2_ENST00000360670.3_Silent_p.R326R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	326	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.R326R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TTTCCGCACCCGGTCCTGGCG	0.667																																																1	Substitution - coding silent(1)	kidney(1)											36	33	34					9																	135102354		2203	4298	6501	SO:0001819	synonymous_variant	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.976C>A	9.37:g.135102354C>A			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	CCDS6946.1																																																																																				0.667	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		A	135102354	C	A	135102354	2	1	567	1	0	0	0	0	0	0	0	1	10707	643	23	4		4	NTNG2	9	135102354	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	3771258	135102354	6111077	55	30701											
KIAA1462	57608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	30316647	30316647	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr10:30316647G>C	ENST00000375377.1	-	3	2531	c.2430C>G	c.(2428-2430)tgC>tgG	p.C810W		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	810					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.C810W(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTTACTGTTGCAAGGGCCCG	0.577																																																1	Substitution - Missense(1)	kidney(1)											90	92	91					10																	30316647		1916	4133	6049	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2430C>G	10.37:g.30316647G>C	ENSP00000364526:p.Cys810Trp		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087483	0.55968	.	.	ENSG00000165757	ENST00000375377	T	0.35973	1.28	5.75	4.85	0.62838	.	0.155508	0.64402	D	0.000018	T	0.56717	0.2004	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60337	-0.7283	10	0.87932	D	0	-22.9605	11.7846	0.52034	0.1408:0.0:0.8592:0.0	.	810	Q9P266	K1462_HUMAN	W	810	ENSP00000364526:C810W	ENSP00000364526:C810W	C	-	3	2	KIAA1462	30356653	1.000000	0.71417	0.991000	0.47740	0.717000	0.41224	7.191000	0.77763	1.446000	0.47643	-0.136000	0.14681	TGC		0.577	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		C	30316647	G	C	30316647	3	2	567	1	0	0	0	0	1	0	0	0	8236	1311	46	4	1657	4	KIAA1462	10	30316647	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08		30316647	105218100	56	30702											
C10orf137	26098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	127442319	127442319	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr10:127442319A>C	ENST00000356792.4	+	24	3682	c.3450A>C	c.(3448-3450)gaA>gaC	p.E1150D	RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.E1116D|RP11-383C5.7_ENST00000601363.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E1116D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCAATCGAGAAGAAGTGATGA	0.393																																																1	Substitution - Missense(1)	kidney(1)											152	142	145					10																	127442319		2203	4300	6503	SO:0001583	missense	26098																														ENST00000356792.4:c.3450A>C	10.37:g.127442319A>C	ENSP00000349244:p.Glu1150Asp		B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345558	0.24426	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.45276	0.9;0.9	4.89	-0.0693	0.13752	.	0.129763	0.51477	D	0.000086	T	0.26991	0.0661	N	0.03608	-0.345	0.46701	D	0.999164	P;D;P	0.55605	0.739;0.972;0.759	B;P;B	0.53912	0.291;0.737;0.4	T	0.04268	-1.0964	10	0.26408	T	0.33	.	10.6185	0.45465	0.5612:0.0:0.4388:0.0	.	1150;497;1116	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	D	1150;1116	ENSP00000349244:E1150D;ENSP00000336727:E1116D	ENSP00000336727:E1116D	E	+	3	2	C10orf137	127432309	0.952000	0.32445	0.987000	0.45799	0.564000	0.35744	0.105000	0.15333	-0.164000	0.10927	0.533000	0.62120	GAA		0.393	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			C	127442319	A	C	127442319	3	2	567	1	0	0	0	0	1	0	0	0	1596	69	3	5	3438	5	C10orf137	10	127442319	Missense_Mutation	SNP	A	TCGA-CW-6090-01A-11D-1669-08	97125672	127442319	8092428	57	30703											
C11orf17	56672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	8940960	8940960	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:8940960T>G	ENST00000309377.4	+	6	656	c.566T>G	c.(565-567)tTa>tGa	p.L189*	AKIP1_ENST00000534147.1_Nonsense_Mutation_p.L189*|AKIP1_ENST00000309357.4_Nonsense_Mutation_p.L162*|AKIP1_ENST00000299576.5_Nonsense_Mutation_p.L162*|AKIP1_ENST00000396648.2_Nonsense_Mutation_p.L162*	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	189					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)		p.L189*(1)		kidney(1)|large_intestine(2)|lung(2)	5						TCAAATGACTTAACCAAGAAG	0.448																																																1	Substitution - Nonsense(1)	kidney(1)											193	177	182					11																	8940960		2201	4296	6497	SO:0001587	stop_gained	0			AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"chromosome 11 open reading frame 17"	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.566T>G	11.37:g.8940960T>G	ENSP00000310459:p.Leu189*		Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Nonsense_Mutation	SNP	ENST00000309377.4	37	CCDS7793.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264104	0.39995	.	.	ENSG00000166452	ENST00000299576;ENST00000309377;ENST00000309357;ENST00000530281;ENST00000396648;ENST00000534147;ENST00000529942	.	.	.	6.07	6.07	0.98685	.	0.512237	0.18852	N	0.129363	.	.	.	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8502	14.3816	0.66914	0.0:0.0:0.0:1.0	.	.	.	.	X	162;189;162;101;162;189;130	.	ENSP00000299576:L162X	L	+	2	0	AKIP1	8897536	0.963000	0.33076	0.269000	0.24586	0.897000	0.52465	3.491000	0.53252	2.326000	0.78906	0.533000	0.62120	TTA		0.448	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385615.1	NM_020642		G	8940960	T	G	8940960	4	3	567	1	0	0	0	0	0	1	0	0	1634	1764	61	5	584	5	C11orf17	11	8940960	Nonsense_Mutation	SNP	T	TCGA-CW-6090-01A-11D-1669-08		8940960	126065556	58	30704											
SLC17A6	57084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22397594	22397594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:22397594C>A	ENST00000263160.3	+	10	1678	c.1241C>A	c.(1240-1242)tCa>tAa	p.S414*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	414					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.S414L(1)|p.S414*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GTAGCAATCTCATTCTTGGTA	0.393																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	kidney(1)|skin(1)											178	184	182					11																	22397594		2203	4300	6503	SO:0001587	stop_gained	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1241C>A	11.37:g.22397594C>A	ENSP00000263160:p.Ser414*		A6NKS2	Nonsense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	43	9.869788	0.99284	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	414;302	.	ENSP00000263160:S414X	S	+	2	0	SLC17A6	22354170	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	7.817000	0.86213	2.941000	0.99782	0.655000	0.94253	TCA		0.393	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		A	22397594	C	A	22397594	4	1	567	1	0	0	0	0	0	1	0	0	14427	838	29	4	1279	4	SLC17A6	11	22397594	Nonsense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	13456634	22397594	112608922	59	30705											
MAPK8IP1	9479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	45925699	45925699	+	Silent	SNP	C	C	T	rs533033002		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:45925699C>T	ENST00000241014.2	+	7	1823	c.1653C>T	c.(1651-1653)ccC>ccT	p.P551P	MAPK8IP1_ENST00000395629.2_Silent_p.P541P|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	551	Interaction with VRK2.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.P551P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCAAGGAGCCCGAGCACATGG	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19649	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											61	49	53					11																	45925699		2203	4299	6502	SO:0001819	synonymous_variant	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1653C>T	11.37:g.45925699C>T			D3DQP4|O43407	Silent	SNP	ENST00000241014.2	37	CCDS7916.1																																																																																				0.592	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		T	45925699	C	T	45925699	2	4	567	1	0	0	0	0	0	0	0	1	9286	639	23	1		1	MAPK8IP1	11	45925699	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	23528105	45925699	89080817	60	30706											
TMX2	51075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57505890	57505890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:57505890delT	ENST00000278422.4	+	4	441	c.429delT	c.(427-429)gatfs	p.D143fs	C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Frame_Shift_Del_p.D105fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	143	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						ACTTCAATGATAAAACCATTG	0.423																																																0													242	224	230					11																	57505890		2201	4296	6497	SO:0001589	frameshift_variant	51075			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.429delT	11.37:g.57505890delT	ENSP00000278422:p.Asp143fs		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Del	DEL	ENST00000278422.4	37	CCDS7967.1																																																																																				0.423	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		-	57505890	T	-	57505890	7	5	567	1	0	1	0	1	0	0	0	0	16272	1403	49	0	443	0	TMX2	11	57505890	Frame_Shift_Del	DEL	T	TCGA-CW-6090-01A-11D-1669-08	11580191	57505890	77500626	61	30707											
MS4A14	84689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60183976	60183976	+	Missense_Mutation	SNP	C	C	A	rs555925241		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:60183976C>A	ENST00000300187.6	+	5	1812	c.1535C>A	c.(1534-1536)tCc>tAc	p.S512Y	MS4A14_ENST00000531783.1_Missense_Mutation_p.S545Y|MS4A14_ENST00000531787.1_Missense_Mutation_p.S400Y|MS4A14_ENST00000395005.2_Missense_Mutation_p.S495Y	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	512	Gln-rich.					integral component of membrane (GO:0016021)		p.S512Y(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGCCAGAAATCCTCAAAGAGG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		22194	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											85	88	87					11																	60183976		2203	4299	6502	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1535C>A	11.37:g.60183976C>A	ENSP00000300187:p.Ser512Tyr		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	0.533	-0.857011	0.02630	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.36520	1.25;2.43;1.25;2.8	3.49	1.48	0.22813	.	2.367760	0.02020	N	0.047704	T	0.29093	0.0723	L	0.45137	1.4	0.09310	N	1	P;P	0.37955	0.612;0.478	B;B	0.32342	0.144;0.069	T	0.16453	-1.0402	10	0.40728	T	0.16	-1.1237	4.545	0.12076	0.3834:0.5027:0.0:0.1139	.	495;512	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	400;512;495;545	ENSP00000437222:S400Y;ENSP00000300187:S512Y;ENSP00000378453:S495Y;ENSP00000433761:S545Y	ENSP00000300187:S512Y	S	+	2	0	MS4A14	59940552	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.129000	0.15830	0.229000	0.21039	-0.142000	0.14014	TCC		0.443	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			A	60183976	C	A	60183976	3	1	567	1	0	0	0	0	1	0	0	0	9860	855	30	4	1553	4	MS4A14	11	60183976	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	2678086	60183976	74822540	62	30708											
C11orf9	745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61539075	61539075	+	Missense_Mutation	SNP	G	G	A	rs367694531		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:61539075G>A	ENST00000278836.5	+	6	940	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	MYRF_ENST00000265460.5_Missense_Mutation_p.V273M|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	282	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V273M(1)									GCCTGGGACCGTGACAGCCCT	0.637																																																1	Substitution - Missense(1)	kidney(1)											87	100	95					11																	61539075		2202	4299	6501	SO:0001583	missense	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.844G>A	11.37:g.61539075G>A	ENSP00000278836:p.Val282Met		O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	g	10.83	1.461416	0.26248	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.31247	1.5;1.51	4.41	1.2	0.21068	NDT80 DNA-binding domain (1);	0.647026	0.15356	N	0.266692	T	0.10380	0.0254	N	0.02539	-0.55	0.21950	N	0.999456	B;B	0.26902	0.163;0.021	B;B	0.13407	0.009;0.001	T	0.27673	-1.0067	10	0.27082	T	0.32	-6.1094	7.6169	0.28163	0.3714:0.0:0.6286:0.0	.	273;282	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	M	282;273	ENSP00000278836:V282M;ENSP00000265460:V273M	ENSP00000265460:V273M	V	+	1	0	C11orf9	61295651	0.338000	0.24775	0.508000	0.27688	0.680000	0.39746	0.706000	0.25690	0.049000	0.15920	0.457000	0.33378	GTG		0.637	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		A	61539075	G	A	61539075	3	1	567	1	0	0	0	0	1	0	0	0	1673	1145	40	1	889	1	C11orf9	11	61539075	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	1355099	61539075	73467441	63	30709											
CLPB	81570	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	72005414	72005414	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:72005414C>T	ENST00000294053.3	-	15	1898	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E	CLPB_ENST00000543042.1_Silent_p.E374E|CLPB_ENST00000437826.2_Silent_p.E530E|CLPB_ENST00000340729.5_Silent_p.E516E|CLPB_ENST00000538021.1_Silent_p.E183E|CLPB_ENST00000538039.1_Silent_p.E545E	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	575					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.E575E(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTTGGATGAGCTCCGAGTGGC	0.562																																																1	Substitution - coding silent(1)	kidney(1)											91	88	89					11																	72005414		2200	4293	6493	SO:0001819	synonymous_variant	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1725G>A	11.37:g.72005414C>T			B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	ENST00000294053.3	37	CCDS8215.1																																																																																				0.562	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		T	72005414	C	T	72005414	2	4	567	1	0	0	0	0	0	0	0	1	3553	796	28	2		2	CLPB	11	72005414	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	10466339	72005414	63001102	64	30710											
MTNR1B	4544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92702959	92702959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr11:92702959C>A	ENST00000257068.2	+	1	74	c.68C>A	c.(67-69)tCg>tAg	p.S23*		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	23					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.S23*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CCGGGCTGGTCGGGGGCTGGC	0.726																																																1	Substitution - Nonsense(1)	kidney(1)											8	10	10					11																	92702959		2128	4145	6273	SO:0001587	stop_gained	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.68C>A	11.37:g.92702959C>A	ENSP00000257068:p.Ser23*			Nonsense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602347	0.66445	.	.	ENSG00000134640	ENST00000257068	.	.	.	4.36	-3.14	0.05250	.	2.058560	0.02788	N	0.121732	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.8991	7.9467	0.29991	0.1025:0.4903:0.0:0.4072	.	.	.	.	X	23	.	ENSP00000257068:S23X	S	+	2	0	MTNR1B	92342607	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.046000	0.11983	-0.777000	0.04572	-1.644000	0.00765	TCG		0.726	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			A	92702959	C	A	92702959	4	1	567	1	0	0	0	0	0	1	0	0	9954	893	31	4	70	4	MTNR1B	11	92702959	Nonsense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	20697545	92702959	42303557	65	30711											
PHB2	11331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7079388	7079388	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:7079388G>A	ENST00000535923.1	-	2	464	c.183C>T	c.(181-183)gaC>gaT	p.D61D	PHB2_ENST00000546111.1_Silent_p.D61D|PHB2_ENST00000542912.1_Silent_p.D61D|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000440277.1_Silent_p.D61D|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000399433.2_Silent_p.D61D	NM_001144831.1	NP_001138303.1			prohibitin 2									p.D61D(1)		ovary(2)|pancreas(1)	3						CCAGGATAGTGTCCTGCTGCA	0.617																																																1	Substitution - coding silent(1)	kidney(1)											130	137	135					12																	7079388		2055	4185	6240	SO:0001819	synonymous_variant	11331			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.183C>T	12.37:g.7079388G>A				Silent	SNP	ENST00000535923.1	37	CCDS53741.1																																																																																				0.617	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273		A	7079388	G	A	7079388	2	1	567	1	0	0	0	0	0	0	0	1	11817	1368	48	2		2	PHB2	12	7079388	Silent	SNP	G	TCGA-CW-6090-01A-11D-1669-08		7079388	126772507	66	30712											
M6PR	4074	hgsc.bcm.edu	37	12	9098995	9098996	+	In_Frame_Ins	INS	-	-	AAC	rs3217106|rs373924445|rs149871778		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:9098995_9098996insAAC	ENST00000000412.3	-	2	473_474	c.5_6insGTT	c.(4-6)ttc>ttGTTc	p.1_2insL		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	1					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	TGTAGAAAGGGAACATCCTTTG	0.475														687	0.137181	0.0038	0.0576	5008	,	,		18966	0.3075		0.1123	False		,,,				2504	0.2239															0									,	106,4158		1,104,2027					,	2.9	0.3		dbSNP_106	77	857,7397		49,759,3319	no	coding,coding	M6PR	NM_002355.3,NM_001207024.1	,	50,863,5346	A1A1,A1R,RR		10.3828,2.4859,7.6929	,	,		963,11555				SO:0001652	inframe_insertion	4074				CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.3_5dupGTT	12.37:g.9098996_9098998dupAAC	ENSP00000000412:p.Met1_Phe2insLeu		A8K528|D3DUV5	In_Frame_Ins	INS	ENST00000000412.3	37	CCDS8598.1																																																																																				0.475	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			AAC	9098996	-	AAC	9098995	7	5	567	1	0	1	1	0	0	0	0	0	9142	1165	41	0	851	0	M6PR	12	9098995	In_Frame_Ins	INS	-	TCGA-CW-6090-01A-11D-1669-08	2019607	9098995	124752900	67	30713											
ARHGDIB	397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	15103538	15103538	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:15103538C>T	ENST00000228945.4	-	2	253	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	ARHGDIB_ENST00000541546.1_Missense_Mutation_p.E37K|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.E37K|ARHGDIB_ENST00000539131.1_5'Flank	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	37					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)	p.E37K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TTGTCCATTTCCTGCAGCTCT	0.483																																																1	Substitution - Missense(1)	kidney(1)											235	210	219					12																	15103538		2203	4300	6503	SO:0001583	missense	397			L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"Endogenous ligands"	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.109G>A	12.37:g.15103538C>T	ENSP00000228945:p.Glu37Lys		B5BU79	Missense_Mutation	SNP	ENST00000228945.4	37	CCDS8671.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.51|16.51	3.143123|3.143123	0.57044|0.57044	.|.	.|.	ENSG00000111348|ENSG00000111348	ENST00000228945;ENST00000541644;ENST00000541546;ENST00000545895;ENST00000541380;ENST00000542276|ENST00000536592	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Immunoglobulin E-set (1);|.	0.109576|.	0.64402|.	D|.	0.000014|.	T|T	0.68403|0.68403	0.2997|0.2997	L|L	0.50919|0.50919	1.6|1.6	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.25850|.	0.136|.	B|.	0.25759|.	0.063|.	T|T	0.64892|0.64892	-0.6300|-0.6300	9|5	0.17832|.	T|.	0.49|.	-35.1646|-35.1646	16.2541|16.2541	0.82503|0.82503	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	37|.	P52566|.	GDIR2_HUMAN|.	K|E	37|31	.|.	ENSP00000228945:E37K|.	E|G	-|-	1|2	0|0	ARHGDIB|ARHGDIB	14994805|14994805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.570000|5.570000	0.67398|0.67398	2.698000|2.698000	0.92095|0.92095	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.483	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	NM_001175		T	15103538	C	T	15103538	3	4	567	1	0	0	0	0	1	0	0	0	891	864	30	2	516	2	ARHGDIB	12	15103538	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	6004543	15103538	118748357	68	30714											
SLC38A2	54407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46760917	46760917	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:46760917T>C	ENST00000256689.5	-	6	867	c.423A>G	c.(421-423)gcA>gcG	p.A141A	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	141					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.A141A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CTAATCCAAATGCCTTATATC	0.328																																					Ovarian(9;448 492 8335 28722 40361)											1	Substitution - coding silent(1)	kidney(1)											100	105	103					12																	46760917		2203	4300	6503	SO:0001819	synonymous_variant	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.423A>G	12.37:g.46760917T>C			Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	CCDS8749.1																																																																																				0.328	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			C	46760917	T	C	46760917	2	2	567	1	0	0	0	0	0	0	0	1	14610	1451	51	3		3	SLC38A2	12	46760917	Silent	SNP	T	TCGA-CW-6090-01A-11D-1669-08	31657379	46760917	87090978	69	30715											
PIP4K2C	79837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57995122	57995122	+	Silent	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:57995122C>G	ENST00000354947.5	+	9	1192	c.1176C>G	c.(1174-1176)gtC>gtG	p.V392V	PIP4K2C_ENST00000422156.3_Silent_p.V344V|PIP4K2C_ENST00000540759.2_Silent_p.V392V|PIP4K2C_ENST00000550465.1_Silent_p.V374V			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	392	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)	p.V392V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CCAAAACTGTCAAGCATGGGG	0.478																																																1	Substitution - coding silent(1)	kidney(1)											71	75	74					12																	57995122		2203	4300	6503	SO:0001819	synonymous_variant	79837			AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.1176C>G	12.37:g.57995122C>G			B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	CCDS8946.1																																																																																				0.478	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		G	57995122	C	G	57995122	2	3	567	1	0	0	0	0	0	0	0	1	11940	813	29	4		4	PIP4K2C	12	57995122	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	11234205	57995122	75856773	70	30716											
THAP2	83591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	72068028	72068028	+	Silent	SNP	T	T	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:72068028T>G	ENST00000308086.2	+	2	1618	c.117T>G	c.(115-117)gtT>gtG	p.V39V	RP11-293I14.2_ENST00000548802.1_Silent_p.V15V	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	39						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V39V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						TTCGCCTGGTTAGGCGCAAAA	0.378																																																1	Substitution - coding silent(1)	kidney(1)											91	90	90					12																	72068028		2203	4300	6503	SO:0001819	synonymous_variant	83591			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"THAP (C2CH-type zinc finger) domain containing"	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.117T>G	12.37:g.72068028T>G			B2R8P3	Silent	SNP	ENST00000308086.2	37	CCDS9001.1																																																																																				0.378	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		G	72068028	T	G	72068028	2	3	567	1	0	0	0	0	0	0	0	1	15849	1741	61	5		5	THAP2	12	72068028	Silent	SNP	T	TCGA-CW-6090-01A-11D-1669-08	14072906	72068028	61783867	71	30717											
TMTC3	160418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	88588684	88588684	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:88588684C>G	ENST00000266712.6	+	14	2223	c.2003C>G	c.(2002-2004)gCt>gGt	p.A668G		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	669					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.A668G(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCACTAGATGCTAATGGGTAT	0.348																																																1	Substitution - Missense(1)	kidney(1)											86	90	89					12																	88588684		2202	4300	6502	SO:0001583	missense	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2003C>G	12.37:g.88588684C>G	ENSP00000266712:p.Ala668Gly		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816579	0.50633	.	.	ENSG00000139324	ENST00000266712	T	0.78364	-1.17	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79240	0.4412	M	0.66939	2.045	0.58432	D	0.999998	B	0.26672	0.156	B	0.30572	0.117	T	0.74109	-0.3771	10	0.33940	T	0.23	-16.501	20.1133	0.97917	0.0:1.0:0.0:0.0	.	668	Q6ZXV5-2	.	G	668	ENSP00000266712:A668G	ENSP00000266712:A668G	A	+	2	0	TMTC3	87112815	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.860000	0.69546	2.762000	0.94881	0.591000	0.81541	GCT		0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		G	88588684	C	G	88588684	3	3	567	1	0	0	0	0	1	0	0	0	16267	797	28	4	2053	4	TMTC3	12	88588684	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	16520656	88588684	45263211	72	30718											
EID3	493861	hgsc.bcm.edu;ucsc.edu	37	12	104698324	104698325	+	Frame_Shift_Ins	INS	-	-	T	rs561075240		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:104698324_104698325insT	ENST00000527879.1	+	1	808_809	c.612_613insT	c.(613-615)ttgfs	p.L205fs	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGCCTACAAAGTTGCAGAAGTT	0.411																																																0																																										SO:0001589	frameshift_variant	493861			BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.614dupT	12.37:g.104698326_104698326dupT	ENSP00000435619:p.Leu205fs			Frame_Shift_Ins	INS	ENST00000527879.1	37	CCDS53822.1																																																																																				0.411	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		T	104698325	-	T	104698324	7	5	567	1	0	1	1	0	0	0	0	0	4991	1020	36	0	614	0	EID3	12	104698324	Frame_Shift_Ins	INS	-	TCGA-CW-6090-01A-11D-1669-08	16109640	104698324	29153571	73	30719											
PITPNM2	57605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123497230	123497232	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	ATA	ATA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:123497230_123497232delATA	ENST00000542749.1	-	3	406_408	c.343_345delTAT	c.(343-345)tatdel	p.Y115del	PITPNM2_ENST00000320201.4_In_Frame_Del_p.Y115del|PITPNM2_ENST00000546049.1_In_Frame_Del_p.Y115del|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_In_Frame_Del_p.Y115del|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	115					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.Y115F(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CATCAGTTTTATAAAAGGTTTCA	0.512																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.343_345delTAT	12.37:g.123497230_123497232delATA	ENSP00000437611:p.Tyr115del		Q9P271	In_Frame_Del	DEL	ENST00000542749.1	37	CCDS9242.1																																																																																				0.512	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		-	123497232	ATA	-	123497230	7	5	567	1	0	1	0	1	0	0	0	0	11953	456	16	0	3792	0	PITPNM2	12	123497230	In_Frame_Del	DEL	ATA	TCGA-CW-6090-01A-11D-1669-08	18798906	123497230	10354665	74	30720											
NCOR2	9612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124839984	124839984	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr12:124839984G>A	ENST00000405201.1	-	24	3375	c.3375C>T	c.(3373-3375)atC>atT	p.I1125I	NCOR2_ENST00000404621.1_Silent_p.I1115I|NCOR2_ENST00000429285.2_Silent_p.I1115I|NCOR2_ENST00000356219.3_Silent_p.I1132I|NCOR2_ENST00000404121.2_Silent_p.I686I|NCOR2_ENST00000397355.1_Silent_p.I1116I			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1133					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.I1125I(1)|p.I1132I(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCACTTGGGAGATGGCACCTA	0.612																																																2	Substitution - coding silent(2)	kidney(2)											54	64	61					12																	124839984		2012	4155	6167	SO:0001819	synonymous_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3375C>T	12.37:g.124839984G>A			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																				0.612	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		A	124839984	G	A	124839984	2	1	567	1	0	0	0	0	0	0	0	1	10238	932	33	2		2	NCOR2	12	124839984	Silent	SNP	G	TCGA-CW-6090-01A-11D-1669-08	1342754	124839984	9011911	75	30721											
SLITRK5	26050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	88329649	88329649	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr13:88329649G>A	ENST00000325089.6	+	2	2225	c.2006G>A	c.(2005-2007)aGc>aAc	p.S669N	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S428N	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	669					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.S669N(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTAATTCTCAGCCTCCTGCTG	0.637																																																1	Substitution - Missense(1)	kidney(1)											135	134	134					13																	88329649		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2006G>A	13.37:g.88329649G>A	ENSP00000366283:p.Ser669Asn		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174271	0.94807	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.60672	0.17;0.51	5.47	5.47	0.80525	.	0.046290	0.85682	D	0.000000	T	0.71600	0.3359	M	0.69358	2.11	0.54753	D	0.999987	D;P	0.55605	0.972;0.949	P;P	0.60173	0.87;0.87	T	0.71303	-0.4633	9	.	.	.	-18.483	16.8036	0.85620	0.0:0.0:1.0:0.0	.	428;669	B4DSH5;O94991	.;SLIK5_HUMAN	N	669;428	ENSP00000366283:S669N;ENSP00000442244:S428N	.	S	+	2	0	SLITRK5	87127650	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.893000	0.87330	2.554000	0.86153	0.555000	0.69702	AGC		0.637	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			A	88329649	G	A	88329649	3	1	567	1	0	0	0	0	1	0	0	0	14752	971	34	2	2008	2	SLITRK5	13	88329649	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08		88329649	26840229	76	30722											
MYO16	23026	broad.mit.edu;ucsc.edu	37	13	109779862	109779862	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr13:109779862G>A	ENST00000357550.2	+	30	3990	c.3949G>A	c.(3949-3951)Gcc>Acc	p.A1317T	MYO16_ENST00000356711.2_Missense_Mutation_p.A1317T|MYO16_ENST00000457511.2_Missense_Mutation_p.A829T	NM_001198950.1	NP_001185879.1			myosin XVI									p.A1317T(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GGCTGTGAGCGCCTGCCTCTC	0.672																																																1	Substitution - Missense(1)	kidney(1)											20	24	23					13																	109779862		2201	4300	6501	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3949G>A	13.37:g.109779862G>A	ENSP00000350160:p.Ala1317Thr			Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179105	0.78564	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.50001	0.76;0.76;0.76	5.5	5.5	0.81552	.	0.000000	0.40385	U	0.001118	T	0.61640	0.2363	L	0.49640	1.575	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	P;P	0.62014	0.897;0.791	T	0.57883	-0.7734	9	.	.	.	.	18.4132	0.90559	0.0:0.0:1.0:0.0	.	829;1317	F8W883;Q9Y6X6	.;MYO16_HUMAN	T	1317;1317;829	ENSP00000349145:A1317T;ENSP00000350160:A1317T;ENSP00000401633:A829T	.	A	+	1	0	MYO16	108577863	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	4.716000	0.61916	2.584000	0.87258	0.563000	0.77884	GCC		0.672	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		A	109779862	G	A	109779862	3	1	567	1	0	0	0	0	1	0	0	0	10066	1087	38	1	4067	1	MYO16	13	109779862	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	21450213	109779862	5390016	77	30723											
GPHN	10243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	67147886	67147886	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr14:67147886C>T	ENST00000315266.5	+	2	1247	c.126C>T	c.(124-126)ctC>ctT	p.L42L	GPHN_ENST00000478722.1_Silent_p.L42L|GPHN_ENST00000459628.1_Silent_p.L42L|GPHN_ENST00000305960.9_Silent_p.L42L|GPHN_ENST00000543237.1_Silent_p.L42L	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	42	MPT Mo-transferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.L42L(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TCAAAGATCTCGTACAAGATC	0.299			T	MLL	AL																																		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	1	Substitution - coding silent(1)	kidney(1)											90	93	92					14																	67147886		2203	4300	6503	SO:0001819	synonymous_variant	10243			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.126C>T	14.37:g.67147886C>T			Q9H4E9|Q9P2G2	Silent	SNP	ENST00000315266.5	37	CCDS32103.1																																																																																				0.299	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		T	67147886	C	T	67147886	2	4	567	1	0	0	0	0	0	0	0	1	6612	871	31	1		1	GPHN	14	67147886	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08		67147886	40201654	78	30724											
PTGR2	145482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74327307	74327307	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr14:74327307delA	ENST00000555661.1	+	3	248	c.103delA	c.(103-105)aatfs	p.N35fs	PTGR2_ENST00000553326.1_3'UTR|RP5-1021I20.4_ENST00000556551.2_Frame_Shift_Del_p.N35fs|PTGR2_ENST00000553813.1_De_novo_Start_OutOfFrame|Y_RNA_ENST00000411368.1_RNA|PTGR2_ENST00000555228.1_Frame_Shift_Del_p.N35fs|PTGR2_ENST00000267568.4_Frame_Shift_Del_p.N35fs			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	35					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	AGATAATATTAATGAAGGACA	0.284																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)											0													67	74	72					14																	74327307		2202	4294	6496	SO:0001589	frameshift_variant	145482			AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"zinc binding alcohol dehydrogenase domain containing 1"	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.103delA	14.37:g.74327307delA	ENSP00000452280:p.Asn35fs		Q3L8A4|Q6MZH8	Frame_Shift_Del	DEL	ENST00000555661.1	37	CCDS9820.1																																																																																				0.284	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			-	74327307	A	-	74327307	7	5	567	1	0	1	0	1	0	0	0	0	12760	362	13	0	109	0	PTGR2	14	74327307	Frame_Shift_Del	DEL	A	TCGA-CW-6090-01A-11D-1669-08	7179421	74327307	33022233	79	30725											
SNRPN	6638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	25220568	25220568	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:25220568G>T	ENST00000400100.1	+	8	957	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	SNRPN_ENST00000577565.1_Missense_Mutation_p.D23Y|SNRPN_ENST00000554227.2_Missense_Mutation_p.D27Y|SNRPN_ENST00000400097.1_Missense_Mutation_p.D23Y|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Missense_Mutation_p.D23Y|SNRPN_ENST00000390687.4_Missense_Mutation_p.D23Y|SNRPN_ENST00000444203.2_Missense_Mutation_p.D27Y|SNRPN_ENST00000400098.1_Missense_Mutation_p.D23Y	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	23					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.D23Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TATCCTGCAAGATGGCCGAAT	0.418									Prader-Willi syndrome																																							1	Substitution - Missense(1)	kidney(1)											174	167	169					15																	25220568		2203	4300	6503	SO:0001583	missense	6638	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.67G>T	15.37:g.25220568G>T	ENSP00000382972:p.Asp23Tyr		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265292	0.59431	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	3.33	3.33	0.38152	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88263	0.2924	10	0.87932	D	0	-13.1947	12.9263	0.58262	0.0:0.0:1.0:0.0	.	27;23	B3KVR1;P63162	.;RSMN_HUMAN	Y	23;23;23;27;23;27	ENSP00000382972:D23Y;ENSP00000382970:D23Y;ENSP00000382969:D23Y;ENSP00000452342:D27Y;ENSP00000375105:D23Y;ENSP00000408767:D27Y	ENSP00000375105:D23Y	D	+	1	0	SNRPN	22771661	1.000000	0.71417	0.086000	0.20670	0.660000	0.38997	8.722000	0.91452	2.143000	0.66587	0.591000	0.81541	GAT		0.418	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		T	25220568	G	T	25220568	3	4	567	1	0	0	0	0	1	0	0	0	14876	942	33	4	73	4	SNRPN	15	25220568	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08		25220568	77310824	80	30726											
COPS2	9318	broad.mit.edu	37	15	49423011	49423011	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:49423011G>T	ENST00000388901.5	-	10	1023	c.950C>A	c.(949-951)gCc>gAc	p.A317D	COPS2_ENST00000542928.1_Missense_Mutation_p.A253D|COPS2_ENST00000299259.6_Missense_Mutation_p.A324D	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	317	PCI.				cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.A317D(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATTCTGATAGGCACTAATAGA	0.308																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)											1	Substitution - Missense(1)	kidney(1)											105	103	104					15																	49423011		2196	4294	6490	SO:0001583	missense	9318			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.950C>A	15.37:g.49423011G>T	ENSP00000373553:p.Ala317Asp		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972608	0.92919	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	T;T;T	0.80566	-1.39;-0.97;-1.39	5.33	5.33	0.75918	PCI/PINT associated module (1);Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	H	0.96748	3.875	0.80722	D	1	D;D;D	0.59767	0.966;0.986;0.986	P;D;D	0.64687	0.903;0.928;0.928	D	0.95157	0.8278	10	0.87932	D	0	-4.0779	19.3667	0.94466	0.0:0.0:1.0:0.0	.	253;325;317	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	D	324;317;253	ENSP00000299259:A324D;ENSP00000373553:A317D;ENSP00000443664:A253D	ENSP00000299259:A324D	A	-	2	0	COPS2	47210303	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.772000	0.98984	2.638000	0.89438	0.655000	0.94253	GCC		0.308	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		T	49423011	G	T	49423011	3	4	567	1	0	0	0	0	1	0	0	0	3735	1203	42	4	397	4	COPS2	15	49423011	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	24202443	49423011	53108381	81	30727											
MYO5C	55930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52571772	52571772	+	Nonsense_Mutation	SNP	C	C	A	rs201874016		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:52571772C>A	ENST00000261839.7	-	3	399	c.238G>T	c.(238-240)Gag>Tag	p.E80*	MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR|MIR1266_ENST00000408125.1_RNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	80	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E80*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACCGCGGGCTCGTGAAGATAG	0.507																																																1	Substitution - Nonsense(1)	kidney(1)											77	76	76					15																	52571772		1921	4126	6047	SO:0001587	stop_gained	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.238G>T	15.37:g.52571772C>A	ENSP00000261839:p.Glu80*		Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	37	6.100769	0.97281	.	.	ENSG00000128833	ENST00000261839;ENST00000541028	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2366	0.98359	0.0:1.0:0.0:0.0	.	.	.	.	X	80;43	.	ENSP00000261839:E80X	E	-	1	0	MYO5C	50359064	1.000000	0.71417	0.994000	0.49952	0.807000	0.45602	7.794000	0.85869	2.792000	0.96026	0.557000	0.71058	GAG		0.507	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		A	52571772	C	A	52571772	4	1	567	1	0	0	0	0	0	1	0	0	10082	893	31	4	5146	4	MYO5C	15	52571772	Nonsense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	3148761	52571772	49959620	82	30728											
CILP	8483	broad.mit.edu;hgsc.bcm.edu	37	15	65499201	65499201	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:65499201C>T	ENST00000261883.4	-	4	509	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	115					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.E115K(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAGAAACCCTCACGGGGACTA	0.637																																																1	Substitution - Missense(1)	kidney(1)											46	46	46					15																	65499201		2201	4299	6500	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.343G>A	15.37:g.65499201C>T	ENSP00000261883:p.Glu115Lys		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446644	0.25987	.	.	ENSG00000138615	ENST00000261883	T	0.16897	2.31	5.05	5.05	0.67936	.	0.218421	0.47093	D	0.000241	T	0.07098	0.0180	N	0.04787	-0.16	0.36541	D	0.871315	B	0.18461	0.028	B	0.20767	0.031	T	0.23655	-1.0182	10	0.06891	T	0.86	-6.5674	9.3457	0.38107	0.0:0.9054:0.0:0.0946	.	115	O75339	CILP1_HUMAN	K	115	ENSP00000261883:E115K	ENSP00000261883:E115K	E	-	1	0	CILP	63286254	0.784000	0.28713	0.951000	0.38953	0.828000	0.46876	1.432000	0.34936	2.619000	0.88677	0.561000	0.74099	GAG		0.637	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		T	65499201	C	T	65499201	3	4	567	1	0	0	0	0	1	0	0	0	3431	835	29	2	3235	2	CILP	15	65499201	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	12927429	65499201	37032191	83	30729											
FAM108C1	58489	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	81046666	81046666	+	Silent	SNP	A	A	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:81046666A>G	ENST00000258884.4	+	3	1072	c.945A>G	c.(943-945)ctA>ctG	p.L315L	ABHD17C_ENST00000558464.1_Silent_p.L281L|ABHD17C_ENST00000560609.1_Silent_p.L80L|ABHD17C_ENST00000559506.1_3'UTR	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	315							hydrolase activity (GO:0016787)	p.L315L(1)									CACAATACCTAGAAAGACTAA	0.468																																																1	Substitution - coding silent(1)	kidney(1)											70	66	67					15																	81046666		1906	4121	6027	SO:0001819	synonymous_variant	58489				CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"Abhydrolase domain containing"	26925	protein-coding gene	gene with protein product			"family with sequence similarity 108, member C1"	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.945A>G	15.37:g.81046666A>G			Q1RMD6|Q9NPM1	Silent	SNP	ENST00000258884.4	37	CCDS45323.1																																																																																				0.468	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214		G	81046666	A	G	81046666	2	3	567	1	0	0	0	0	0	0	0	1	5395	407	15	3		3	FAM108C1	15	81046666	Silent	SNP	A	TCGA-CW-6090-01A-11D-1669-08	15547465	81046666	21484726	84	30730											
DET1	55070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89056233	89056233	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:89056233C>T	ENST00000268148.8	-	5	1747	c.1602G>A	c.(1600-1602)agG>agA	p.R534R	DET1_ENST00000564406.1_Silent_p.R545R|DET1_ENST00000444300.1_Silent_p.R545R|RP11-97O12.7_ENST00000606219.1_RNA	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	534						nucleus (GO:0005634)		p.R545R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAGCATTAGTCCTCTGCACAG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											99	98	98					15																	89056233		2024	4181	6205	SO:0001819	synonymous_variant	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1602G>A	15.37:g.89056233C>T			B3KNN6|Q2VPC0|Q9NWD5	Silent	SNP	ENST00000268148.8	37	CCDS45344.1																																																																																				0.522	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		T	89056233	C	T	89056233	2	4	567	1	0	0	0	0	0	0	0	1	4452	854	30	2		2	DET1	15	89056233	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	8009567	89056233	13475159	85	30731											
RHCG	51458	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90022631	90022631	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr15:90022631G>A	ENST00000268122.4	-	5	827	c.759C>T	c.(757-759)acC>acT	p.T253T	RHCG_ENST00000544600.1_Silent_p.T253T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	253					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.T253T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGGAGCAGTAGGTGTTGATGG	0.597																																																1	Substitution - coding silent(1)	kidney(1)											117	80	93					15																	90022631		2200	4299	6499	SO:0001819	synonymous_variant	51458			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.759C>T	15.37:g.90022631G>A			A8K4D4|Q6X3Y4	Silent	SNP	ENST00000268122.4	37	CCDS10351.1																																																																																				0.597	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		A	90022631	G	A	90022631	2	1	567	1	0	0	0	0	0	0	0	1	13332	987	35	2		2	RHCG	15	90022631	Silent	SNP	G	TCGA-CW-6090-01A-11D-1669-08	966398	90022631	12508761	86	30732											
SPSB3	90864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1827748	1827748	+	Splice_Site	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:1827748C>G	ENST00000566339.1	-	6	1051	c.721G>C	c.(721-723)Ggt>Cgt	p.G241R	SPSB3_ENST00000301717.4_Splice_Site_p.G241R	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	241	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.G241R(2)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						ACGGCCTCACCTATACACTTC	0.602																																																2	Substitution - Missense(2)	kidney(2)											78	73	75					16																	1827748		2198	4299	6497	SO:0001630	splice_region_variant	90864				CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.721+1G>C	16.37:g.1827748C>G			D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574505	0.65878	.	.	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.66815	-0.23	3.79	3.79	0.43588	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.85405	0.5689	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89585	0.3823	9	.	.	.	-23.6723	14.23	0.65885	0.0:1.0:0.0:0.0	.	241	Q6PJ21	SPSB3_HUMAN	R	241;45	ENSP00000301717:G241R	.	G	-	1	0	SPSB3	1767749	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.296000	0.78790	1.664000	0.50801	0.561000	0.74099	GGT		0.602	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861	Missense_Mutation	G	1827748	C	G	1827748	5	3	567	1	0	0	0	0	0	0	1	0	15119	695	24	4	354	4	SPSB3	16	1827748	Splice_Site	SNP	C	TCGA-CW-6090-01A-11D-1669-08		1827748	88527005	87	30733											
CIITA	4261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10997656	10997656	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:10997656C>G	ENST00000324288.8	+	9	974	c.841C>G	c.(841-843)Cca>Gca	p.P281A	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.P232A	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	281					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.P281A(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCCAACATCTCCAGACCGGCC	0.612			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	1	Substitution - Missense(1)	kidney(1)											93	83	86					16																	10997656		2197	4300	6497	SO:0001583	missense	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.841C>G	16.37:g.10997656C>G	ENSP00000316328:p.Pro281Ala		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731576	0.30684	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.77620	-1.11;-0.41	5.47	5.47	0.80525	.	0.000000	0.53938	D	0.000044	D	0.87156	0.6107	M	0.75264	2.295	0.31372	N	0.680007	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.991;0.999;0.989;1.0;0.997	D	0.87105	0.2181	10	0.49607	T	0.09	.	14.8224	0.70082	0.0:1.0:0.0:0.0	.	281;232;281;281;233;281	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	A	281;232;233;281	ENSP00000316328:P281A;ENSP00000371257:P232A	ENSP00000316328:P281A	P	+	1	0	CIITA	10905157	0.998000	0.40836	1.000000	0.80357	0.104000	0.19210	3.279000	0.51670	2.569000	0.86673	0.655000	0.94253	CCA		0.612	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		G	10997656	C	G	10997656	3	3	567	1	0	0	0	0	1	0	0	0	3430	855	30	4	875	4	CIITA	16	10997656	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	9169908	10997656	79357097	88	30734											
CIRH1A	84916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69199288	69199288	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:69199288C>T	ENST00000314423.7	+	15	1869	c.1692C>T	c.(1690-1692)agC>agT	p.S564S	CIRH1A_ENST00000563094.1_Silent_p.S564S|CIRH1A_ENST00000352319.4_Silent_p.S449S			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	564					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.S564S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CAGATTGGAGCCGGACTGTCC	0.488																																					Melanoma(69;1156 1278 4951 8715 52012)											1	Substitution - coding silent(1)	kidney(1)											123	108	113					16																	69199288		2198	4300	6498	SO:0001819	synonymous_variant	84916			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1692C>T	16.37:g.69199288C>T			Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	ENST00000314423.7	37	CCDS10872.1																																																																																				0.488	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		T	69199288	C	T	69199288	2	4	567	1	0	0	0	0	0	0	0	1	3436	738	26	2		2	CIRH1A	16	69199288	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	58201632	69199288	21155465	89	30735											
GCSH	2653	broad.mit.edu;hgsc.bcm.edu	37	16	81118200	81118200	+	Splice_Site	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:81118200C>A	ENST00000315467.3	-	4	417		c.e4-1		GCSH_ENST00000566566.1_Splice_Site|RP11-303E16.8_ENST00000564536.1_RNA	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)						glycine catabolic process (GO:0006546)|glycine decarboxylation via glycine cleavage system (GO:0019464)|methylation (GO:0032259)	glycine cleavage complex (GO:0005960)|mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	CCAAACTCATCTAAGTGGAAA	0.318																																																1	Unknown(1)	kidney(1)											17	18	18					16																	81118200		2173	4289	6462	SO:0001630	splice_region_variant	2653			M69175	CCDS10933.1	16q23.2	2014-09-17			ENSG00000140905	ENSG00000140905			4208	protein-coding gene	gene with protein product	"lipoic acid-containing protein"	238330				1671321, 2025283	Standard	NM_004483		Approved		uc002fgd.3	P23434	OTTHUMG00000137626	ENST00000315467.3:c.293-1G>T	16.37:g.81118200C>A			Q9H1E9	Splice_Site	SNP	ENST00000315467.3	37	CCDS10933.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247375	0.59103	.	.	ENSG00000140905	ENST00000315467	.	.	.	4.91	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2676	0.37650	0.0:0.9022:0.0:0.0978	.	.	.	.	.	-1	.	.	.	-	.	.	GCSH	79675701	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.352000	0.79404	1.426000	0.47256	0.650000	0.86243	.		0.318	GCSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269049.1	NM_004483	Intron	A	81118200	C	A	81118200	5	1	567	1	0	0	0	0	0	0	1	0	6307	927	32	4	237	4	GCSH	16	81118200	Splice_Site	SNP	C	TCGA-CW-6090-01A-11D-1669-08	11918912	81118200	9236553	90	30736											
ZC3H18	124245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88694152	88694152	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:88694152C>T	ENST00000301011.5	+	14	2431	c.2231C>T	c.(2230-2232)tCt>tTt	p.S744F	ZC3H18_ENST00000452588.2_Missense_Mutation_p.S768F	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	744	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S744F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCAGCCAGCTCTCGGTCCCCG	0.652																																					Ovarian(121;375 2276 20373 38669)											1	Substitution - Missense(1)	kidney(1)											52	40	44					16																	88694152		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2231C>T	16.37:g.88694152C>T	ENSP00000301011:p.Ser744Phe		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578301	0.86645	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.52057	0.68;1.01	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.68800	-0.5313	10	0.66056	D	0.02	-11.2625	17.9725	0.89117	0.0:1.0:0.0:0.0	.	768;744	E7ERS3;Q86VM9	.;ZCH18_HUMAN	F	744;768	ENSP00000301011:S744F;ENSP00000416951:S768F	ENSP00000301011:S744F	S	+	2	0	ZC3H18	87221653	1.000000	0.71417	0.955000	0.39395	0.849000	0.48306	5.769000	0.68865	2.322000	0.78497	0.491000	0.48974	TCT		0.652	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		T	88694152	C	T	88694152	3	4	567	1	0	0	0	0	1	0	0	0	17573	913	32	2	2281	2	ZC3H18	16	88694152	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	7575952	88694152	1660601	91	30737											
ZNF276	92822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89804478	89804478	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr16:89804478G>C	ENST00000443381.2	+	11	1766	c.1669G>C	c.(1669-1671)Gac>Cac	p.D557H	ZNF276_ENST00000289816.5_Missense_Mutation_p.D482H|ZNF276_ENST00000446326.2_Missense_Mutation_p.D343H|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_3'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D557H(1)|p.D482H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTTTGCCTGTGACCAGTGTGG	0.597																																																2	Substitution - Missense(2)	kidney(2)											74	58	63					16																	89804478		2198	4300	6498	SO:0001583	missense	92822			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1669G>C	16.37:g.89804478G>C	ENSP00000415836:p.Asp557His		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853366	0.71719	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.48522	0.81;0.81;0.81	5.75	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.156624	0.56097	D	0.000024	T	0.59059	0.2166	L	0.39514	1.22	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	D;D;D	0.71870	0.957;0.975;0.975	T	0.62450	-0.6852	10	0.72032	D	0.01	-39.5728	14.0591	0.64788	0.0723:0.0:0.9277:0.0	.	395;557;343	B4DIT3;Q8N554;A8K186	.;ZN276_HUMAN;.	H	343;482;557	ENSP00000415999:D343H;ENSP00000289816:D482H;ENSP00000415836:D557H	ENSP00000289816:D482H	D	+	1	0	ZNF276	88331979	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.160000	0.64929	1.432000	0.47375	0.561000	0.74099	GAC		0.597	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		C	89804478	G	C	89804478	3	2	567	1	0	0	0	0	1	0	0	0	17816	1290	45	4	1711	4	ZNF276	16	89804478	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	1110326	89804478	550275	92	30738											
PRPF8	10594	hgsc.bcm.edu;ucsc.edu	37	17	1559850	1559855	+	In_Frame_Del	DEL	GTAAGT	GTAAGT	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	GTAAGT	GTAAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:1559850_1559855delGTAAGT	ENST00000572621.1	-	35	5889_5894	c.5624_5629delACTTAC	c.(5623-5631)cacttactg>ctg	p.HL1875del	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_In_Frame_Del_p.HL1875del			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1875	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.H1875R(1)|p.H1875P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGGAAGTCCAGTAAGTGCACCTAAGA	0.5																																																2	Substitution - Missense(2)	endometrium(1)|kidney(1)																																								SO:0001651	inframe_deletion	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5624_5629delACTTAC	17.37:g.1559850_1559855delGTAAGT	ENSP00000460348:p.His1875_Leu1876del		O14547|O75965	In_Frame_Del	DEL	ENST00000572621.1	37	CCDS11010.1																																																																																				0.5	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			-	1559855	GTAAGT	-	1559850	7	5	567	1	0	1	0	1	0	0	0	0	12580	1020	36	0	1410	0	PRPF8	17	1559850	In_Frame_Del	DEL	GTAAGT	TCGA-CW-6090-01A-11D-1669-08		1559850	79635360	93	30739											
PAFAH1B1	5048	hgsc.bcm.edu	37	17	2577360	2577360	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:2577360T>C	ENST00000397195.5	+	8	1129	c.678T>C	c.(676-678)tgT>tgC	p.C226C	PAFAH1B1_ENST00000572915.2_3'UTR|PAFAH1B1_ENST00000451360.2_Silent_p.C55C	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)									p.C226C(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						ACAGCTACTGTGTGAAGACAT	0.418																																																1	Substitution - coding silent(1)	kidney(1)											90	77	81					17																	2577360		2203	4300	6503	SO:0001819	synonymous_variant	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.678T>C	17.37:g.2577360T>C				Silent	SNP	ENST00000397195.5	37	CCDS32528.1																																																																																				0.418	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		C	2577360	T	C	2577360	2	2	567	1	0	0	0	0	0	0	0	1	11386	1702	59	3		3	PAFAH1B1	17	2577360	Silent	SNP	T	TCGA-CW-6090-01A-11D-1669-08	1017510	2577360	78617850	94	30740											
ITGAE	3682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3657179	3657179	+	Silent	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:3657179G>C	ENST00000263087.4	-	13	1523	c.1425C>G	c.(1423-1425)tcC>tcG	p.S475S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	475					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.S475S(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCGCGATGTAGGAGAGGCTGC	0.627																																					NSCLC(182;635 2928 8995 38788)											1	Substitution - coding silent(1)	kidney(1)											68	57	61					17																	3657179		2203	4300	6503	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1425C>G	17.37:g.3657179G>C			Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	CCDS32531.1																																																																																				0.627	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		C	3657179	G	C	3657179	2	2	567	1	0	0	0	0	0	0	0	1	7887	987	35	4		4	ITGAE	17	3657179	Silent	SNP	G	TCGA-CW-6090-01A-11D-1669-08	1079819	3657179	77538031	95	30741											
KIAA0100	9703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26965110	26965110	+	Silent	SNP	A	A	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:26965110A>G	ENST00000528896.2	-	14	1589	c.1515T>C	c.(1513-1515)ggT>ggC	p.G505G	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.G362G|KIAA0100_ENST00000389003.3_Silent_p.G362G	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	505						extracellular region (GO:0005576)		p.G505G(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGTTATAGCTACCCTAGAGAA	0.493																																																1	Substitution - coding silent(1)	kidney(1)											52	55	54					17																	26965110		2203	4300	6503	SO:0001819	synonymous_variant	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1515T>C	17.37:g.26965110A>G			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	CCDS32595.1																																																																																				0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		G	26965110	A	G	26965110	2	3	567	1	0	0	0	0	0	0	0	1	8156	378	14	3		3	KIAA0100	17	26965110	Silent	SNP	A	TCGA-CW-6090-01A-11D-1669-08	23307931	26965110	54230100	96	30742											
SRCIN1	80725	broad.mit.edu	37	17	36717995	36717996	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:36717995_36717996insA	ENST00000264659.7	-	7	1627_1628	c.1403_1404insT	c.(1402-1404)ttcfs	p.F468fs	SRCIN1_ENST00000578925.1_Frame_Shift_Ins_p.F502fs|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	340					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCGGCAGGCGGAAGCCGTAGCC	0.752																																																0																																										SO:0001589	frameshift_variant	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.1404dupT	17.37:g.36717997_36717997dupA	ENSP00000264659:p.Phe468fs		Q75T46|Q8N4W8	Frame_Shift_Ins	INS	ENST00000264659.7	37	CCDS45660.1																																																																																				0.752	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		A	36717996	-	A	36717995	7	5	567	1	0	1	1	0	0	0	0	0	15141	1165	41	0	2199	0	SRCIN1	17	36717995	Frame_Shift_Ins	INS	-	TCGA-CW-6090-01A-11D-1669-08	9752885	36717995	44477215	97	30743											
ST6GALNAC1	55808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74625522	74625522	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:74625522T>C	ENST00000156626.7	-	2	602	c.403A>G	c.(403-405)Aac>Gac	p.N135D	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	135					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.N135D(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GACAGTGTGTTCACCATGGTT	0.572																																																1	Substitution - Missense(1)	kidney(1)											173	160	164					17																	74625522		2203	4300	6503	SO:0001583	missense	55808			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.403A>G	17.37:g.74625522T>C	ENSP00000156626:p.Asn135Asp		Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	T	0.055	-1.239346	0.01493	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.20881	2.04;2.05	3.94	0.643	0.17770	.	2.111040	0.01547	N	0.019532	T	0.08044	0.0201	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.27706	-1.0066	10	0.02654	T	1	-5.3386	3.8101	0.08793	0.0:0.4489:0.1883:0.3628	.	135	Q9NSC7	SIA7A_HUMAN	D	135	ENSP00000156626:N135D;ENSP00000351991:N135D	ENSP00000156626:N135D	N	-	1	0	ST6GALNAC1	72137117	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.531000	0.06171	0.046000	0.15833	0.260000	0.18958	AAC		0.572	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		C	74625522	T	C	74625522	3	2	567	1	0	0	0	0	1	0	0	0	15228	1783	62	3	1431	3	ST6GALNAC1	17	74625522	Missense_Mutation	SNP	T	TCGA-CW-6090-01A-11D-1669-08	37907527	74625522	6569688	98	30744											
SLC26A11	284129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78215586	78215586	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr17:78215586C>T	ENST00000361193.3	+	10	1282	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	SLC26A11_ENST00000546047.2_Silent_p.Y334Y|SLC26A11_ENST00000411502.3_Silent_p.Y334Y|SLC26A11_ENST00000572725.1_Silent_p.Y334Y	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11									p.Y334Y(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGAATAATTACCGCATCGATG	0.512																																																1	Substitution - coding silent(1)	kidney(1)											122	125	124					17																	78215586		2203	4300	6503	SO:0001819	synonymous_variant	284129				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1002C>T	17.37:g.78215586C>T				Silent	SNP	ENST00000361193.3	37	CCDS11771.2																																																																																				0.512	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			T	78215586	C	T	78215586	2	4	567	1	0	0	0	0	0	0	0	1	14522	518	18	2		2	SLC26A11	17	78215586	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	3590064	78215586	2979624	99	30745											
COLEC12	81035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	346953	346953	+	Silent	SNP	C	C	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr18:346953C>A	ENST00000400256.3	-	5	876	c.669G>T	c.(667-669)ctG>ctT	p.L223L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	223					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.L223L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CAGACCGCTGCAGATTCGTGA	0.473																																																1	Substitution - coding silent(1)	kidney(1)											112	109	110					18																	346953		2203	4300	6503	SO:0001819	synonymous_variant	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.669G>T	18.37:g.346953C>A			Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	CCDS32782.1																																																																																				0.473	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			A	346953	C	A	346953	2	1	567	1	0	0	0	0	0	0	0	1	3714	697	25	4		4	COLEC12	18	346953	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08		346953	77730295	100	30746											
HRH4	59340	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	22056745	22056745	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr18:22056745A>G	ENST00000256906.4	+	3	492	c.392A>G	c.(391-393)aAg>aGg	p.K131R	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	131					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.K131R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	GGGGTCTTGAAGATTGTTACT	0.383																																																1	Substitution - Missense(1)	kidney(1)											177	167	170					18																	22056745		2203	4300	6503	SO:0001583	missense	59340			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"GPCR / Class A : Histamine receptors"	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.392A>G	18.37:g.22056745A>G	ENSP00000256906:p.Lys131Arg		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	A	2.913	-0.224980	0.06022	.	.	ENSG00000134489	ENST00000256906	T	0.34072	1.38	5.79	0.0119	0.14089	GPCR, rhodopsin-like superfamily (1);	0.390819	0.28093	N	0.016631	T	0.16514	0.0397	N	0.26042	0.785	0.09310	N	0.999999	B	0.06786	0.001	B	0.13407	0.009	T	0.29701	-1.0003	10	0.02654	T	1	-9.2996	5.567	0.17177	0.5192:0.1421:0.3387:0.0	.	131	Q9H3N8	HRH4_HUMAN	R	131	ENSP00000256906:K131R	ENSP00000256906:K131R	K	+	2	0	HRH4	20310743	0.109000	0.22037	0.385000	0.26158	0.935000	0.57460	0.306000	0.19279	0.444000	0.26612	0.533000	0.62120	AAG		0.383	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			G	22056745	A	G	22056745	3	3	567	1	0	0	0	0	1	0	0	0	7360	72	3	3	402	3	HRH4	18	22056745	Missense_Mutation	SNP	A	TCGA-CW-6090-01A-11D-1669-08	21709792	22056745	56020503	101	30747											
FAM59A	64762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29867421	29867421	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr18:29867421G>A	ENST00000269209.6	-	4	1142	c.1139C>T	c.(1138-1140)aCc>aTc	p.T380I	GAREM_ENST00000399218.4_Missense_Mutation_p.T380I|GAREM_ENST00000578619.1_5'Flank|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	380					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.T380I(2)									GAAGGACTGGGTGAGCTCATC	0.567																																																2	Substitution - Missense(2)	kidney(1)|skin(1)											101	97	98					18																	29867421		2203	4300	6503	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1139C>T	18.37:g.29867421G>A	ENSP00000269209:p.Thr380Ile		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199340	0.79015	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.18960	2.18;2.18	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.36672	1.1	0.80722	D	1	D;P	0.76494	0.999;0.866	D;P	0.83275	0.996;0.595	T	0.05683	-1.0870	10	0.48119	T	0.1	-27.2857	19.5673	0.95398	0.0:0.0:1.0:0.0	.	380;380	Q9H706;Q9H706-3	FA59A_HUMAN;.	I	380	ENSP00000382165:T380I;ENSP00000269209:T380I	ENSP00000269209:T380I	T	-	2	0	FAM59A	28121419	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.357000	0.97099	2.706000	0.92434	0.462000	0.41574	ACC		0.567	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		A	29867421	G	A	29867421	3	1	567	1	0	0	0	0	1	0	0	0	5594	1261	44	2	1500	2	FAM59A	18	29867421	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	7810676	29867421	48209827	102	30748											
ZNF397	84307	hgsc.bcm.edu	37	18	32822821	32822821	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr18:32822821G>A	ENST00000330501.7	+	2	540	c.387G>A	c.(385-387)gaG>gaA	p.E129E	ZNF397_ENST00000261333.6_Silent_p.E129E|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000591206.1_Silent_p.E129E|ZNF397_ENST00000355632.4_Silent_p.E129E|ZNF397_ENST00000585800.1_Silent_p.E129E|ZNF397_ENST00000592264.1_Silent_p.E129E	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	129	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						AGGATTTAGAGAGGGAGTTTG	0.502																																																0													55	59	58					18																	32822821		2203	4300	6503	SO:0001819	synonymous_variant	84307			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"-", "Zinc fingers, C2H2-type"	18818	protein-coding gene	gene with protein product		609601	"zinc finger protein 47"	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.387G>A	18.37:g.32822821G>A			Q9BRM2	Silent	SNP	ENST00000330501.7	37	CCDS45852.1																																																																																				0.502	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347		A	32822821	G	A	32822821	2	1	567	1	0	0	0	0	0	0	0	1	17888	933	33	2		2	ZNF397	18	32822821	Silent	SNP	G	TCGA-CW-6090-01A-11D-1669-08	2955400	32822821	45254427	103	30749											
SHC2	25759	broad.mit.edu;hgsc.bcm.edu	37	19	422337	422337	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:422337G>T	ENST00000264554.6	-	11	1428	c.1429C>A	c.(1429-1431)Ccc>Acc	p.P477T		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	477	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)		p.P838T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCGTGGGGGCCACAGGG	0.692																																																1	Substitution - Missense(1)	kidney(1)											8	10	10					19																	422337		1973	4110	6083	SO:0001583	missense	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1429C>A	19.37:g.422337G>T	ENSP00000264554:p.Pro477Thr		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900163	0.33535	.	.	ENSG00000129946	ENST00000264554	T	0.63096	-0.02	4.75	4.75	0.60458	.	0.106801	0.64402	D	0.000003	T	0.61640	0.2363	M	0.75447	2.3	0.80722	D	1	B	0.25390	0.125	B	0.20955	0.032	T	0.59537	-0.7436	10	0.18276	T	0.48	-35.3987	17.187	0.86869	0.0:0.0:1.0:0.0	.	477	P98077	SHC2_HUMAN	T	477	ENSP00000264554:P477T	ENSP00000264554:P477T	P	-	1	0	SHC2	373337	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.181000	0.58303	2.575000	0.86900	0.651000	0.88453	CCC		0.692	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			T	422337	G	T	422337	3	4	567	1	0	0	0	0	1	0	0	0	14277	1232	43	4	327	4	SHC2	19	422337	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08		422337	58706646	104	30750											
DOT1L	84444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2211150	2211150	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:2211150G>A	ENST00000398665.3	+	15	1440	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	468					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.Q468Q(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCGTGCAGCGGCACTCCC	0.697																																																2	Substitution - coding silent(2)	kidney(2)											57	67	64					19																	2211150		2106	4200	6306	SO:0001819	synonymous_variant	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1404G>A	19.37:g.2211150G>A			O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	8.471	0.857621	0.17178	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.8	1.05	0.20165	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25502	-1.0130	4	.	.	.	-14.8012	2.7285	0.05220	0.4232:0.2504:0.3264:0.0	.	.	.	.	N	255	.	.	S	+	2	0	DOT1L	2162150	1.000000	0.71417	0.045000	0.18777	0.774000	0.43823	1.782000	0.38654	0.406000	0.25560	-0.258000	0.10820	AGC		0.697	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		A	2211150	G	A	2211150	2	1	567	1	0	0	0	0	0	0	0	1	4711	962	34	2		2	DOT1L	19	2211150	Silent	SNP	G	TCGA-CW-6090-01A-11D-1669-08	1788813	2211150	56917833	105	30751											
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8976796	8976796	+	Silent	SNP	T	T	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:8976796T>C	ENST00000397910.4	-	73	42473	c.42270A>G	c.(42268-42270)ccA>ccG	p.P14090P	MUC16_ENST00000380951.5_Silent_p.P731P|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14120				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P14090P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCCATATCTGGTGAATACT	0.567																																																1	Substitution - coding silent(1)	kidney(1)											113	111	112					19																	8976796		1964	4144	6108	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42270A>G	19.37:g.8976796T>C			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.635	-0.074647	0.07184	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.37	-1.65	0.08291	.	.	.	.	.	T	0.28333	0.0700	.	.	.	.	.	.	.	.	.	.	.	.	T	0.34453	-0.9828	3	.	.	.	.	4.2532	0.10705	0.1675:0.3978:0.0:0.4347	.	.	.	.	R	913	.	.	Q	-	2	0	MUC16	8837796	0.001000	0.12720	0.010000	0.14722	0.002000	0.02628	-0.071000	0.11505	-0.556000	0.06134	-0.473000	0.04963	CAG		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	8976796	T	C	8976796	2	2	567	1	0	0	0	0	0	0	0	1	9975	1567	55	3		3	MUC16	19	8976796	Silent	SNP	T	TCGA-CW-6090-01A-11D-1669-08	6765646	8976796	50152187	106	30752											
PDE4A	5141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10574570	10574570	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:10574570G>C	ENST00000352831.6	+	14	1955	c.1845G>C	c.(1843-1845)caG>caC	p.Q615H	PDE4A_ENST00000440014.2_Missense_Mutation_p.Q554H|PDE4A_ENST00000592685.1_Missense_Mutation_p.Q593H|PDE4A_ENST00000293683.5_Missense_Mutation_p.Q589H|PDE4A_ENST00000380702.2_Missense_Mutation_p.Q593H|PDE4A_ENST00000344979.3_Missense_Mutation_p.Q376H	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	615	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)	p.Q376H(1)|p.Q589H(1)|p.Q554H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	AGTTCTTCCAGCAGGGTGACC	0.617																																																3	Substitution - Missense(3)	kidney(3)											117	90	99					19																	10574570		2203	4300	6503	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1845G>C	19.37:g.10574570G>C	ENSP00000270474:p.Gln615His		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	g	12.73	2.025396	0.35701	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	4.37	1.91	0.25777	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.302241	0.30126	N	0.010342	T	0.63780	0.2540	N	0.22421	0.69	0.41088	D	0.985579	B;B;B;B;B	0.16396	0.002;0.011;0.017;0.003;0.004	B;B;B;B;B	0.12837	0.001;0.008;0.003;0.003;0.006	T	0.56257	-0.8009	10	0.40728	T	0.16	.	5.8141	0.18481	0.211:0.1767:0.6123:0.0	.	281;376;554;589;615	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	H	57;593;615;589;554;376;281	ENSP00000370078:Q593H;ENSP00000270474:Q615H;ENSP00000293683:Q589H;ENSP00000394754:Q554H;ENSP00000341007:Q376H	ENSP00000293683:Q589H	Q	+	3	2	PDE4A	10435570	0.996000	0.38824	1.000000	0.80357	0.945000	0.59286	0.306000	0.19279	0.822000	0.34565	-0.471000	0.05019	CAG		0.617	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			C	10574570	G	C	10574570	3	2	567	1	0	0	0	0	1	0	0	0	11641	962	34	4	2356	4	PDE4A	19	10574570	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	1597774	10574570	48554413	107	30753											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39038896	39038896	+	Missense_Mutation	SNP	G	G	A	rs374441925		TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:39038896G>A	ENST00000359596.3	+	89	12118	c.12118G>A	c.(12118-12120)Gcc>Acc	p.A4040T	RYR1_ENST00000360985.3_Missense_Mutation_p.A4035T|RYR1_ENST00000355481.4_Missense_Mutation_p.A4035T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4040					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A4040T(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGGCATGATCGCCCGGCAGAT	0.577																																																2	Substitution - Missense(2)	endometrium(1)|kidney(1)						G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	147	106	120		12118,12103	4.2	1	19		120	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	4040/5039,4035/5034	39038896	1,13005	2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12118G>A	19.37:g.39038896G>A	ENSP00000352608:p.Ala4040Thr		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331379	0.60853	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.65549	-0.16;-0.16;-0.16	4.19	4.19	0.49359	.	0.000000	0.64402	U	0.000003	T	0.67822	0.2934	L	0.38175	1.15	0.48511	D	0.999669	D;D;D	0.71674	0.998;0.996;0.992	P;P;P	0.59115	0.852;0.688;0.491	T	0.72978	-0.4127	10	0.87932	D	0	.	16.7047	0.85368	0.0:0.0:1.0:0.0	.	4035;4035;4040	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	T	4040;4035;4035	ENSP00000352608:A4040T;ENSP00000347667:A4035T;ENSP00000354254:A4035T	ENSP00000347667:A4035T	A	+	1	0	RYR1	43730736	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	9.520000	0.98027	2.344000	0.79699	0.561000	0.74099	GCC		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	39038896	G	A	39038896	3	1	567	1	0	0	0	0	1	0	0	0	13774	1087	38	1	12472	1	RYR1	19	39038896	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	28464326	39038896	20090087	108	30754											
ZNF546	339327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40520538	40520538	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:40520538C>T	ENST00000347077.4	+	7	1577	c.1361C>T	c.(1360-1362)aCg>aTg	p.T454M	ZNF546_ENST00000600094.1_Missense_Mutation_p.T428M|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T454M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CGTCTTCAAACGGAACTTACT	0.393																																																1	Substitution - Missense(1)	kidney(1)											68	71	70					19																	40520538		2203	4300	6503	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1361C>T	19.37:g.40520538C>T	ENSP00000339823:p.Thr454Met		A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	12.66	2.005962	0.35415	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07800	3.16	2.67	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11367	0.0277	L	0.52011	1.625	0.09310	N	1	D	0.67145	0.996	P	0.48030	0.564	T	0.15350	-1.0440	9	0.59425	D	0.04	.	7.6611	0.28404	0.0:0.736:0.264:0.0	.	454	Q86UE3	ZN546_HUMAN	M	454;91	ENSP00000339823:T454M	ENSP00000339823:T454M	T	+	2	0	ZNF546	45212378	0.000000	0.05858	0.165000	0.22776	0.963000	0.63663	-0.306000	0.08178	1.804000	0.52760	0.655000	0.94253	ACG		0.393	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		T	40520538	C	T	40520538	3	4	567	1	0	0	0	0	1	0	0	0	17983	536	19	1	1379	1	ZNF546	19	40520538	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	1481642	40520538	18608445	109	30755											
EML2	24139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46119737	46119737	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:46119737G>A	ENST00000245925.3	-	15	1541	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	EML2_ENST00000536630.1_Silent_p.S644S|EML2_ENST00000587152.1_Silent_p.S698S|EML2_ENST00000589876.1_Silent_p.S497S	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	497	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.S497S(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TGCCCAGGCGGCTGACCTTGC	0.687																																																1	Substitution - coding silent(1)	kidney(1)											25	28	27					19																	46119737		2189	4272	6461	SO:0001819	synonymous_variant	24139			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1491C>T	19.37:g.46119737G>A			B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	CCDS12670.1																																																																																				0.687	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		A	46119737	G	A	46119737	2	1	567	1	0	0	0	0	0	0	0	1	5099	1194	42	2		2	EML2	19	46119737	Silent	SNP	G	TCGA-CW-6090-01A-11D-1669-08	5599199	46119737	13009246	110	30756											
RUVBL2	10856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49510383	49510383	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:49510383G>C	ENST00000595090.1	+	5	838	c.374G>C	c.(373-375)cGg>cCg	p.R125P	RUVBL2_ENST00000413176.2_Missense_Mutation_p.R80P|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R80P	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	125					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)	p.R125P(1)		large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GCCTTCCGGCGGTCCATCGGC	0.677																																																1	Substitution - Missense(1)	kidney(1)											39	44	42					19																	49510383		1981	4153	6134	SO:0001583	missense	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.374G>C	19.37:g.49510383G>C	ENSP00000473172:p.Arg125Pro		B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763917	0.49574	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.52526	0.66;0.66	5.51	5.51	0.81932	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.051815	0.64402	D	0.000001	T	0.66317	0.2777	H	0.96518	3.835	0.50813	D	0.999897	B;B;B	0.26483	0.15;0.021;0.068	B;B;B	0.30029	0.11;0.048;0.047	T	0.72484	-0.4279	10	0.87932	D	0	-29.8332	17.2848	0.87138	0.0:0.0:1.0:0.0	.	125;125;91	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	P	125;80	ENSP00000221413:R125P;ENSP00000413890:R80P	ENSP00000221413:R125P	R	+	2	0	RUVBL2	54202195	0.998000	0.40836	0.781000	0.31783	0.445000	0.32107	5.722000	0.68485	2.768000	0.95171	0.561000	0.74099	CGG		0.677	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			C	49510383	G	C	49510383	3	2	567	1	0	0	0	0	1	0	0	0	13759	1116	39	4	392	4	RUVBL2	19	49510383	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08	3390646	49510383	9618600	111	30757											
SHANK1	50944	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51215207	51215207	+	Silent	SNP	G	G	A			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr19:51215207G>A	ENST00000293441.1	-	6	975	c.957C>T	c.(955-957)caC>caT	p.H319H	SHANK1_ENST00000359082.3_Silent_p.H319H|SHANK1_ENST00000391814.1_Silent_p.H319H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	319					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.H319H(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGAGCACCTGGTGGATTTCCT	0.642																																																1	Substitution - coding silent(1)	kidney(1)											64	73	70					19																	51215207		2203	4300	6503	SO:0001819	synonymous_variant	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.957C>T	19.37:g.51215207G>A			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																				0.642	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		A	51215207	G	A	51215207	2	1	567	1	0	0	0	0	0	0	0	1	14270	1252	44	2		2	SHANK1	19	51215207	Silent	SNP	G	TCGA-CW-6090-01A-11D-1669-08	1704824	51215207	7913776	112	30758											
C20orf11	54994	hgsc.bcm.edu;ucsc.edu	37	20	61576211	61576214	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	AAAT	AAAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr20:61576211_61576214delAAAT	ENST00000266069.3	+	5	781_784	c.634_637delAAAT	c.(634-639)aaatatfs	p.KY212fs		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	212						cell junction (GO:0030054)|nucleus (GO:0005634)											GAAGAAAGTAAAATATCCCAAAAT	0.495																																																0																																										SO:0001589	frameshift_variant	0			AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"chromosome 20 open reading frame 11", "GID complex subunit 8 homolog (S. cerevisiae)"	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.634_637delAAAT	20.37:g.61576211_61576214delAAAT	ENSP00000266069:p.Lys212fs		E1P5I3|Q8N5M5	Frame_Shift_Del	DEL	ENST00000266069.3	37	CCDS13510.1																																																																																				0.495	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080097.2	NM_017896		-	61576214	AAAT	-	61576211	7	5	567	1	0	1	0	1	0	0	0	0	2081	15	1	0	648	0	C20orf11	20	61576211	Frame_Shift_Del	DEL	AAAT	TCGA-CW-6090-01A-11D-1669-08		61576211	1449309	113	30759											
SYNJ1	8867	broad.mit.edu;hgsc.bcm.edu	37	21	34053921	34053921	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr21:34053921T>G	ENST00000322229.7	-	10	1237	c.1238A>C	c.(1237-1239)gAa>gCa	p.E413A	SYNJ1_ENST00000382499.2_Missense_Mutation_p.E452A|SYNJ1_ENST00000382491.3_Missense_Mutation_p.E413A|SYNJ1_ENST00000357345.3_Missense_Mutation_p.E413A|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E452A			O43426	SYNJ1_HUMAN	synaptojanin 1	413	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.E413A(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTGAGGCTTTTCAGCTAAACC	0.348																																																1	Substitution - Missense(1)	kidney(1)											83	81	82					21																	34053921		2203	4300	6503	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1238A>C	21.37:g.34053921T>G	ENSP00000322234:p.Glu413Ala		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348034	0.82132	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	5.83	5.83	0.93111	Synaptojanin, N-terminal (1);	0.156649	0.56097	N	0.000022	T	0.35856	0.0946	L	0.45051	1.395	0.80722	D	1	P;P;P;P;D	0.61697	0.608;0.613;0.858;0.602;0.99	B;B;P;B;P	0.54060	0.297;0.269;0.596;0.358;0.741	T	0.02484	-1.1152	10	0.35671	T	0.21	.	16.1999	0.82063	0.0:0.0:0.0:1.0	.	413;452;413;413;413	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	A	413;413;452;452;413;413	ENSP00000371931:E413A;ENSP00000349903:E413A;ENSP00000371939:E452A;ENSP00000409667:E452A;ENSP00000322234:E413A;ENSP00000413649:E413A	ENSP00000322234:E413A	E	-	2	0	SYNJ1	32975792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.224000	0.72417	0.477000	0.44152	GAA		0.348	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				G	34053921	T	G	34053921	3	3	567	1	0	0	0	0	1	0	0	0	15457	1783	62	5	3605	5	SYNJ1	21	34053921	Missense_Mutation	SNP	T	TCGA-CW-6090-01A-11D-1669-08		34053921	14075974	114	30760											
SYNGR1	9145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	39777742	39777742	+	Silent	SNP	C	C	G			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr22:39777742C>G	ENST00000328933.5	+	4	540	c.525C>G	c.(523-525)ggC>ggG	p.G175G		NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	175					protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)		p.G175G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					ACCAGATTGGCGCCGACTCGG	0.687																																																1	Substitution - coding silent(1)	kidney(1)											42	45	44					22																	39777742		2203	4300	6503	SO:0001819	synonymous_variant	9145			AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.525C>G	22.37:g.39777742C>G			A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Silent	SNP	ENST00000328933.5	37	CCDS13989.1																																																																																				0.687	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		G	39777742	C	G	39777742	2	3	567	1	0	0	0	0	0	0	0	1	15453	755	27	4		4	SYNGR1	22	39777742	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08		39777742	11526824	115	30761											
CELSR1	9620	broad.mit.edu;hgsc.bcm.edu	37	22	46792566	46792566	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chr22:46792566C>T	ENST00000262738.3	-	13	5778	c.5779G>A	c.(5779-5781)Ggc>Agc	p.G1927S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1927	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.G1927S(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCGGGGAGCCGGGGGAGCGC	0.617																																																1	Substitution - Missense(1)	kidney(1)											39	35	37					22																	46792566		2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5779G>A	22.37:g.46792566C>T	ENSP00000262738:p.Gly1927Ser		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183182	0.01620	.	.	ENSG00000075275	ENST00000262738	D	0.91792	-2.91	4.45	-5.08	0.02929	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.368494	0.25402	N	0.030933	T	0.70587	0.3241	N	0.01618	-0.8	0.58432	D	0.999997	B;B	0.24483	0.104;0.014	B;B	0.14578	0.005;0.011	T	0.61481	-0.7054	10	0.02654	T	1	.	13.8969	0.63778	0.0:0.1513:0.0:0.8487	.	248;1927	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	S	1927	ENSP00000262738:G1927S	ENSP00000262738:G1927S	G	-	1	0	CELSR1	45171230	0.032000	0.19561	0.008000	0.14137	0.016000	0.09150	0.207000	0.17395	-0.757000	0.04697	-0.224000	0.12420	GGC		0.617	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		T	46792566	C	T	46792566	3	4	567	1	0	0	0	0	1	0	0	0	3223	652	23	1	3357	1	CELSR1	22	46792566	Missense_Mutation	SNP	C	TCGA-CW-6090-01A-11D-1669-08	7014824	46792566	4512000	116	30762											
MAGED2	10916	broad.mit.edu;hgsc.bcm.edu	37	X	54841822	54841822	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chrX:54841822G>C	ENST00000375068.1	+	12	1761	c.1528G>C	c.(1528-1530)Gag>Cag	p.E510Q	MAGED2_ENST00000396224.1_Missense_Mutation_p.E510Q|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375062.4_Missense_Mutation_p.E425Q|MAGED2_ENST00000375058.1_Missense_Mutation_p.E510Q|MAGED2_ENST00000218439.4_Missense_Mutation_p.E510Q|MAGED2_ENST00000375053.2_Missense_Mutation_p.E510Q|MAGED2_ENST00000347546.4_Missense_Mutation_p.E492Q|MAGED2_ENST00000375060.1_Missense_Mutation_p.E425Q			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	510						membrane (GO:0016020)		p.E510Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GCTCGGCTCGGAGAATGCTGC	0.607																																																1	Substitution - Missense(1)	kidney(1)											22	22	22					X																	54841822		2203	4299	6502	SO:0001583	missense	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1528G>C	X.37:g.54841822G>C	ENSP00000364209:p.Glu510Gln		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376967	0.61735	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.72051	3.46;3.46;3.58;-0.62;0.95;3.46;3.46;0.95;3.46	4.2	4.2	0.49525	.	0.000000	0.46442	D	0.000297	T	0.76335	0.3973	L	0.39898	1.24	0.29238	N	0.872839	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.995	T	0.71513	-0.4570	10	0.72032	D	0.01	.	11.1209	0.48289	0.0:0.0:1.0:0.0	.	425;510	Q5H907;Q9UNF1	.;MAGD2_HUMAN	Q	510;510;454;492;425;510;510;425;510	ENSP00000364209:E510Q;ENSP00000364193:E510Q;ENSP00000336962:E454Q;ENSP00000340290:E492Q;ENSP00000364202:E425Q;ENSP00000218439:E510Q;ENSP00000364198:E510Q;ENSP00000364200:E425Q;ENSP00000379526:E510Q	ENSP00000218439:E510Q	E	+	1	0	MAGED2	54858547	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.020000	0.57189	2.098000	0.63641	0.513000	0.50165	GAG		0.607	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		C	54841822	G	C	54841822	3	2	567	1	0	0	0	0	1	0	0	0	9186	1175	41	4	1570	4	MAGED2	23	54841822	Missense_Mutation	SNP	G	TCGA-CW-6090-01A-11D-1669-08		54841822	100428738	117	30763											
MAGEE1	57692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	75648791	75648791	+	Silent	SNP	C	C	T			TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chrX:75648791C>T	ENST00000361470.2	+	1	746	c.468C>T	c.(466-468)gcC>gcT	p.A156A		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	156	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.A156A(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CGCCCACCGCCTCTGAGGTAC	0.687																																																2	Substitution - coding silent(2)	kidney(2)											29	29	29					X																	75648791		2202	4291	6493	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.468C>T	X.37:g.75648791C>T			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	CCDS14433.1																																																																																				0.687	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		T	75648791	C	T	75648791	2	4	567	1	0	0	0	0	0	0	0	1	9187	668	24	2		2	MAGEE1	23	75648791	Silent	SNP	C	TCGA-CW-6090-01A-11D-1669-08	20806969	75648791	79621769	118	30764											
L1CAM	3897	hgsc.bcm.edu	37	X	153130543	153130543	+	Splice_Site	SNP	G	G	A	rs35902890	byFrequency	TCGA-CW-6090-01A-11D-1669-08	TCGA-CW-6090-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3b2e654a-4c13-4dab-9e18-1445a43af3e6	fffaa9d0-d063-4b59-9328-323215bf3e88	g.chrX:153130543G>A	ENST00000370060.1	-	22	3061	c.2872C>T	c.(2872-2874)Ctg>Ttg	p.L958L	L1CAM_ENST00000538883.1_Splice_Site_p.L960L|L1CAM_ENST00000361699.4_Splice_Site_p.L958L|L1CAM_ENST00000543994.1_Splice_Site_p.L960L|L1CAM_ENST00000370057.3_Splice_Site_p.L958L|L1CAM_ENST00000361981.3_Splice_Site_p.L953L|L1CAM_ENST00000370055.1_Splice_Site_p.L953L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	958	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		L -> V (in dbSNP:rs35902890).		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.L958L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCACGCACGGGGGTGGTAG	0.697																																																1	Substitution - coding silent(1)	kidney(1)											27	26	26					X																	153130543		2202	4297	6499	SO:0001630	splice_region_variant	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2872+1C>T	X.37:g.153130543G>A			A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	CCDS14733.1																																																																																				0.697	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	Silent	A	153130543	G	A	153130543	5	1	567	1	0	0	0	0	0	0	1	0	8590	1130	39	1	933	1	L1CAM	23	153130543	Splice_Site	SNP	G	TCGA-CW-6090-01A-11D-1669-08	77481752	153130543	2140017	119	30765											
AGRN	375790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	985343	985343	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:985343C>A	ENST00000379370.2	+	27	4855	c.4805C>A	c.(4804-4806)cCc>cAc	p.P1602H		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1602	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.P1602H(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGGCGGCGCCCTGCCGTGTG	0.711																																																1	Substitution - Missense(1)	kidney(1)											20	22	21					1																	985343		2189	4263	6452	SO:0001583	missense	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4805C>A	1.37:g.985343C>A	ENSP00000368678:p.Pro1602His		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138737	0.37728	.	.	ENSG00000188157	ENST00000379370	T	0.75154	-0.91	4.8	4.8	0.61643	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.628072	0.14190	U	0.335381	T	0.59348	0.2187	N	0.03194	-0.395	0.33438	D	0.581989	D	0.62365	0.991	P	0.46975	0.533	T	0.65894	-0.6057	10	0.22109	T	0.4	-22.8058	17.4311	0.87539	0.0:1.0:0.0:0.0	.	1602	O00468	AGRIN_HUMAN	H	1602	ENSP00000368678:P1602H	ENSP00000368678:P1602H	P	+	2	0	AGRN	975206	1.000000	0.71417	0.998000	0.56505	0.066000	0.16364	4.368000	0.59505	2.216000	0.71823	0.486000	0.48141	CCC		0.711	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		A	985343	C	A	985343	3	1	568	1	0	0	0	0	1	0	0	0	397	623	22	4	4911	4	AGRN	1	985343	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08		985343	248265278	1	30766											
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39909151	39909151	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:39909151C>G	ENST00000372915.3	+	78	19120	c.19033C>G	c.(19033-19035)Ctc>Gtc	p.L6345V	MACF1_ENST00000539005.1_Missense_Mutation_p.L4257V|MACF1_ENST00000317713.7_Missense_Mutation_p.L4387V|MACF1_ENST00000545844.1_Missense_Mutation_p.L4387V|MACF1_ENST00000564288.1_Missense_Mutation_p.L6446V|MACF1_ENST00000361689.2_Missense_Mutation_p.L4387V|MACF1_ENST00000289893.4_Missense_Mutation_p.L4889V|MACF1_ENST00000567887.1_Missense_Mutation_p.L6483V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6345					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L4387V(1)|p.L4889V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAAGATTTCCTCTTGGAACT	0.413																																																2	Substitution - Missense(2)	kidney(2)											88	90	89					1																	39909151		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19033C>G	1.37:g.39909151C>G	ENSP00000362006:p.Leu6345Val		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.441570|4.441570	0.83993|0.83993	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52754|.	0.65;0.65;0.65;0.65;0.65;0.65|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.56097|.	D|.	0.000039|.	T|T	0.70911|0.70911	0.3278|0.3278	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;P|.	0.56035|.	0.974;0.728|.	P;P|.	0.55615|.	0.78;0.561|.	T|T	0.67067|0.67067	-0.5764|-0.5764	10|5	0.46703|.	T|.	0.11|.	.|.	15.5636|15.5636	0.76269|0.76269	0.1378:0.8622:0.0:0.0|0.1378:0.8622:0.0:0.0	.|.	6345;4387|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	V|R	4387;6345;4387;4387;4257;4889|3390	ENSP00000439537:L4387V;ENSP00000362006:L6345V;ENSP00000354573:L4387V;ENSP00000313438:L4387V;ENSP00000444364:L4257V;ENSP00000289893:L4889V|.	ENSP00000289893:L4889V|.	L|P	+|+	1|2	0|0	MACF1|MACF1	39681738|39681738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.930000|5.930000	0.70104|0.70104	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39909151	C	G	39909151	3	3	568	1	0	0	0	0	1	0	0	0	9146	681	24	4	19608	4	MACF1	1	39909151	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	38923808	39909151	209341470	2	30767											
CCDC17	149483	broad.mit.edu;ucsc.edu	37	1	46087629	46087629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:46087629delG	ENST00000528266.1	-	8	1153	c.1006delC	c.(1006-1008)caafs	p.Q336fs	CCDC17_ENST00000421127.2_Frame_Shift_Del_p.Q327fs|CCDC17_ENST00000343901.2_Frame_Shift_Del_p.Q304fs|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000464739.1_Intron			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	336										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CCCTTCGGTTGTAGGCTGGCA	0.612																																																0													22	26	24					1																	46087629		2202	4300	6502	SO:0001589	frameshift_variant	149483				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1006delC	1.37:g.46087629delG	ENSP00000432172:p.Gln336fs		A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Frame_Shift_Del	DEL	ENST00000528266.1	37	CCDS44131.2																																																																																				0.612	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		-	46087629	G	-	46087629	7	5	568	1	0	1	0	1	0	0	0	0	2795	1386	48	0	886	0	CCDC17	1	46087629	Frame_Shift_Del	DEL	G	TCGA-CW-6093-01A-11D-1669-08	6178478	46087629	203162992	3	30768											
NRD1	4898	broad.mit.edu;ucsc.edu	37	1	52287168	52287169	+	Splice_Site	INS	-	-	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:52287168_52287169insC	ENST00000354831.7	-	10	1611		c.e10+1		NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000544028.1_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TAAATATCTTACTTGTTTGGTA	0.371																																																0																																										SO:0001630	splice_region_variant	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1421+1->G	1.37:g.52287169_52287169dupC			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	INS	ENST00000354831.7	37	CCDS559.1																																																																																				0.371	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	Intron	C	52287169	-	C	52287168	8	5	568	1	0	1	1	0	0	0	1	0	10647	405	14	0	2332	0	NRD1	1	52287168	Splice_Site	INS	-	TCGA-CW-6093-01A-11D-1669-08	6199539	52287168	196963453	4	30769											
PPAP2B	8613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	57044640	57044640	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:57044640C>G	ENST00000371250.3	-	1	601	c.50G>C	c.(49-51)gGc>gCc	p.G17A		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	17					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.G17A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CGGGCTGCCGCCGTTCTTGCT	0.652																																																1	Substitution - Missense(1)	kidney(1)											48	57	54					1																	57044640		2203	4300	6503	SO:0001583	missense	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.50G>C	1.37:g.57044640C>G	ENSP00000360296:p.Gly17Ala		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	37	CCDS604.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502220	0.64298	.	.	ENSG00000162407	ENST00000371250	T	0.29917	1.55	4.73	4.73	0.59995	.	0.533295	0.19597	N	0.110482	T	0.50463	0.1617	M	0.63843	1.955	0.58432	D	0.999997	D	0.71674	0.998	D	0.63877	0.919	T	0.36261	-0.9755	10	0.30854	T	0.27	.	17.2302	0.86982	0.0:1.0:0.0:0.0	.	17	O14495	LPP3_HUMAN	A	17	ENSP00000360296:G17A	ENSP00000360296:G17A	G	-	2	0	PPAP2B	56817228	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	5.625000	0.67770	2.598000	0.87819	0.655000	0.94253	GGC		0.652	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713		G	57044640	C	G	57044640	3	3	568	1	0	0	0	0	1	0	0	0	12293	739	26	4	909	4	PPAP2B	1	57044640	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	4757472	57044640	192205981	5	30770											
EVI5	7813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	93163497	93163497	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:93163497C>T	ENST00000370331.1	-	6	826	c.817G>A	c.(817-819)Gat>Aat	p.D273N	EVI5_ENST00000543509.1_Missense_Mutation_p.D273N|RNU4-59P_ENST00000364447.1_RNA|EVI5_ENST00000540033.1_Missense_Mutation_p.D273N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	273	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.D273N(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AGTCTATAATCTTGCATTAAT	0.323																																																1	Substitution - Missense(1)	kidney(1)											92	93	93					1																	93163497		2201	4297	6498	SO:0001583	missense	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.817G>A	1.37:g.93163497C>T	ENSP00000359356:p.Asp273Asn		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190275	0.78789	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.10477	2.87;2.87;2.87	5.45	5.45	0.79879	Rab-GAP/TBC domain (4);	0.089199	0.85682	D	0.000000	T	0.15955	0.0384	L	0.33753	1.03	0.80722	D	1	P;D	0.53619	0.951;0.961	P;D	0.63703	0.864;0.917	T	0.01805	-1.1270	10	0.56958	D	0.05	-15.7508	19.2739	0.94023	0.0:1.0:0.0:0.0	.	273;273	F5H4R0;O60447	.;EVI5_HUMAN	N	273	ENSP00000359356:D273N;ENSP00000440826:D273N;ENSP00000445019:D273N	ENSP00000359356:D273N	D	-	1	0	EVI5	92936085	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.807000	0.86032	2.552000	0.86080	0.655000	0.94253	GAT		0.323	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		T	93163497	C	T	93163497	3	4	568	1	0	0	0	0	1	0	0	0	5291	913	32	2	1667	2	EVI5	1	93163497	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	36118857	93163497	156087124	6	30771											
CELSR2	1952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109805009	109805009	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:109805009G>A	ENST00000271332.3	+	6	4548	c.4487G>A	c.(4486-4488)gGa>gAa	p.G1496E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1496	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G1496E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTGCGCTTCGGATCTGTCCTG	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)											1	Substitution - Missense(1)	kidney(1)											74	68	70					1																	109805009		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4487G>A	1.37:g.109805009G>A	ENSP00000271332:p.Gly1496Glu		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692355	0.88735	.	.	ENSG00000143126	ENST00000271332	T	0.78481	-1.18	4.75	4.75	0.60458	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.85873	0.5798	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84904	0.0844	9	0.39692	T	0.17	.	17.93	0.88993	0.0:0.0:1.0:0.0	.	1496	Q9HCU4	CELR2_HUMAN	E	1496	ENSP00000271332:G1496E	ENSP00000271332:G1496E	G	+	2	0	CELSR2	109606532	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	7.253000	0.78320	2.468000	0.83385	0.462000	0.41574	GGA		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		A	109805009	G	A	109805009	3	1	568	1	0	0	0	0	1	0	0	0	3224	1174	41	2	4509	2	CELSR2	1	109805009	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	16641512	109805009	139445612	7	30772											
KIRREL	55243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158057581	158057581	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:158057581C>G	ENST00000359209.6	+	6	765	c.698C>G	c.(697-699)aCg>aGg	p.T233R	KIRREL_ENST00000416935.2_Missense_Mutation_p.T133R|KIRREL_ENST00000360089.4_Missense_Mutation_p.T69R|KIRREL_ENST00000368173.3_Missense_Mutation_p.T233R|KIRREL_ENST00000392272.2_Missense_Mutation_p.T130R|KIRREL_ENST00000368172.1_Missense_Mutation_p.T31R			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	233	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.T233R(2)|p.T69R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GAGCCACAGACGGTGCAGGAG	0.577											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				3	Substitution - Missense(3)	kidney(3)											80	63	69					1																	158057581		2203	4300	6503	SO:0001583	missense	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.698C>G	1.37:g.158057581C>G	ENSP00000352138:p.Thr233Arg	1790	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002630	0.93227	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69	5.62	5.62	0.85841	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000444	T	0.21881	0.0527	L	0.58101	1.795	0.58432	D	0.999998	D;D;D;D	0.71674	0.988;0.994;0.998;0.998	D;D;D;D	0.70487	0.919;0.969;0.933;0.933	T	0.01753	-1.1281	10	0.18710	T	0.47	-15.1113	17.1484	0.86772	0.0:1.0:0.0:0.0	.	133;69;31;233	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	R	69;233;130;233;133;31	ENSP00000353202:T69R;ENSP00000357155:T233R;ENSP00000376098:T130R;ENSP00000352138:T233R;ENSP00000389674:T133R;ENSP00000357154:T31R	ENSP00000352138:T233R	T	+	2	0	KIRREL	156324205	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	7.335000	0.79234	2.644000	0.89710	0.563000	0.77884	ACG		0.577	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		G	158057581	C	G	158057581	3	3	568	1	0	0	0	0	1	0	0	0	8326	536	19	4	720	4	KIRREL	1	158057581	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	48252572	158057581	91193040	8	30773											
CD1D	912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158152008	158152008	+	Missense_Mutation	SNP	C	C	A	rs536931854		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:158152008C>A	ENST00000368171.3	+	4	1014	c.515C>A	c.(514-516)aCg>aAg	p.T172K		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	172					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.T172K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GACAAGTGGACGAGGGAAACA	0.522																																																1	Substitution - Missense(1)	kidney(1)											168	170	169					1																	158152008		2203	4300	6503	SO:0001583	missense	912			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.515C>A	1.37:g.158152008C>A	ENSP00000357153:p.Thr172Lys		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602653	0.28534	.	.	ENSG00000158473	ENST00000368171	T	0.17370	2.28	4.65	0.555	0.17247	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.49916	D	0.000140	T	0.14313	0.0346	M	0.82323	2.585	0.09310	N	1	D	0.89917	1.0	P	0.58130	0.833	T	0.08046	-1.0741	10	0.23891	T	0.37	-14.4929	3.2088	0.06675	0.186:0.5117:0.0:0.3023	.	172	P15813	CD1D_HUMAN	K	172	ENSP00000357153:T172K	ENSP00000357153:T172K	T	+	2	0	CD1D	156418632	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.661000	0.25023	0.253000	0.21552	0.650000	0.86243	ACG		0.522	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		A	158152008	C	A	158152008	3	1	568	1	0	0	0	0	1	0	0	0	2979	536	19	4	525	4	CD1D	1	158152008	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	94427	158152008	91098613	9	30774											
CASQ1	844	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160167357	160167357	+	Splice_Site	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:160167357A>G	ENST00000368078.3	+	7	978		c.e7-1		CASQ1_ENST00000368079.3_Splice_Site|CASQ1_ENST00000467691.1_5'Flank			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)						endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)	p.?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTCTCTTCTAGATCAACCCT	0.567																																																1	Unknown(1)	kidney(1)											122	119	120					1																	160167357		2203	4300	6503	SO:0001630	splice_region_variant	844			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"Protein disulfide isomerases"	1512	protein-coding gene	gene with protein product	"calsequestrin 1, fast-twitch, skeletal muscle", "calmitine"	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.783-1A>G	1.37:g.160167357A>G			B1AKZ2|B2R863|Q8TBW7	Splice_Site	SNP	ENST00000368078.3	37	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187791	0.57909	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.852	0.63504	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASQ1	158433981	1.000000	0.71417	0.967000	0.41034	0.665000	0.39181	8.466000	0.90387	1.920000	0.55613	0.533000	0.62120	.		0.567	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231	Intron	G	160167357	A	G	160167357	5	3	568	1	0	0	0	0	0	0	1	0	2682	434	15	3	807	3	CASQ1	1	160167357	Splice_Site	SNP	A	TCGA-CW-6093-01A-11D-1669-08	2015349	160167357	89083264	10	30775											
KIF14	9928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200587653	200587653	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:200587653A>T	ENST00000367350.4	-	2	637	c.199T>A	c.(199-201)Tat>Aat	p.Y67N		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	67	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|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)|PDZ domain binding (GO:0030165)	p.Y67N(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GAAATAACATAAGTTCTATTT	0.398																																																1	Substitution - Missense(1)	kidney(1)											103	94	97					1																	200587653		2203	4300	6503	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.199T>A	1.37:g.200587653A>T	ENSP00000356319:p.Tyr67Asn		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791677	0.70452	.	.	ENSG00000118193	ENST00000367350	D	0.85088	-1.94	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000017	D	0.88749	0.6521	L	0.34521	1.04	0.48975	D	0.999739	D	0.89917	1.0	D	0.87578	0.998	D	0.89603	0.3836	10	0.59425	D	0.04	.	16.4046	0.83654	1.0:0.0:0.0:0.0	.	67	Q15058	KIF14_HUMAN	N	67	ENSP00000356319:Y67N	ENSP00000356319:Y67N	Y	-	1	0	KIF14	198854276	1.000000	0.71417	0.656000	0.29637	0.446000	0.32137	6.863000	0.75489	2.277000	0.76020	0.533000	0.62120	TAT		0.398	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		T	200587653	A	T	200587653	3	4	568	1	0	0	0	0	1	0	0	0	8278	362	13	5	4863	5	KIF14	1	200587653	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	40420296	200587653	48662968	11	30776											
TP53BP2	7159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223983955	223983955	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:223983955C>T	ENST00000343537.7	-	13	2577	c.2286G>A	c.(2284-2286)agG>agA	p.R762R	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Silent_p.R633R|TP53BP2_ENST00000391879.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	756					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.R762R(1)|p.R633R(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTATGGTGGTCCTCTGATATA	0.473																																																2	Substitution - coding silent(2)	kidney(2)											144	148	146					1																	223983955		2203	4300	6503	SO:0001819	synonymous_variant	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2286G>A	1.37:g.223983955C>T			B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	CCDS44319.1																																																																																				0.473	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		T	223983955	C	T	223983955	2	4	568	1	0	0	0	0	0	0	0	1	16389	854	30	2		2	TP53BP2	1	223983955	Silent	SNP	C	TCGA-CW-6093-01A-11D-1669-08	23396302	223983955	25266666	12	30777											
CHRM3	1131	broad.mit.edu;hgsc.bcm.edu	37	1	240071728	240071728	+	Missense_Mutation	SNP	A	A	G	rs561025752		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:240071728A>G	ENST00000255380.4	+	5	1756	c.977A>G	c.(976-978)cAg>cGg	p.Q326R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	326					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.Q326R(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AGCTCCGAGCAGATGGACCAA	0.552																																																1	Substitution - Missense(1)	kidney(1)											48	45	46					1																	240071728		2203	4300	6503	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.977A>G	1.37:g.240071728A>G	ENSP00000255380:p.Gln326Arg		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	A	9.479	1.097579	0.20552	.	.	ENSG00000133019	ENST00000255380	T	0.57595	0.39	5.97	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.209202	0.41938	D	0.000800	T	0.26484	0.0647	N	0.04508	-0.205	0.42479	D	0.992856	B	0.02656	0.0	B	0.10450	0.005	T	0.05257	-1.0896	10	0.21014	T	0.42	-15.3758	8.5273	0.33313	0.8017:0.1309:0.0674:0.0	.	326	P20309	ACM3_HUMAN	R	326	ENSP00000255380:Q326R	ENSP00000255380:Q326R	Q	+	2	0	CHRM3	238138351	0.995000	0.38212	1.000000	0.80357	0.887000	0.51463	2.607000	0.46300	1.080000	0.41073	0.533000	0.62120	CAG		0.552	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		G	240071728	A	G	240071728	3	3	568	1	0	0	0	0	1	0	0	0	3380	188	7	3	979	3	CHRM3	1	240071728	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	16087773	240071728	9178893	13	30778											
BRE	9577	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	28467670	28467670	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:28467670A>C	ENST00000342045.2	+	11	1016	c.875A>C	c.(874-876)gAa>gCa	p.E292A	BRE_ENST00000379624.1_Missense_Mutation_p.E292A|BRE_ENST00000361704.2_Missense_Mutation_p.E292A|BRE_ENST00000379632.2_Missense_Mutation_p.E292A|BRE_ENST00000344773.2_Missense_Mutation_p.E292A	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.E292A(3)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TATGATGCAGAAGGCTTTACA	0.333																																																3	Substitution - Missense(3)	kidney(3)											219	194	203					2																	28467670		2203	4300	6503	SO:0001583	missense	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.875A>C	2.37:g.28467670A>C	ENSP00000339371:p.Glu292Ala			Missense_Mutation	SNP	ENST00000342045.2	37	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441258	0.43326	.	.	ENSG00000158019	ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379623	.	.	.	5.84	5.84	0.93424	.	0.048851	0.85682	D	0.000000	T	0.51109	0.1655	L	0.43152	1.355	0.53688	D	0.999972	P;P;B;B	0.42871	0.792;0.481;0.122;0.206	B;B;B;B	0.40677	0.337;0.184;0.04;0.115	T	0.46569	-0.9182	9	0.18710	T	0.47	-27.3602	15.8917	0.79303	1.0:0.0:0.0:0.0	.	292;292;292;292	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	A	292;292;292;292;292;194	.	ENSP00000339371:E292A	E	+	2	0	BRE	28321174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.165000	0.71891	2.228000	0.72767	0.533000	0.62120	GAA		0.333	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			C	28467670	A	C	28467670	3	2	568	1	0	0	0	0	1	0	0	0	1511	246	9	5	909	5	BRE	2	28467670	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08		28467670	214731703	14	30779											
LTBP1	4052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	33413692	33413692	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:33413692A>C	ENST00000404816.2	+	7	1828	c.1475A>C	c.(1474-1476)gAa>gCa	p.E492A	LTBP1_ENST00000418533.2_Missense_Mutation_p.E166A|LTBP1_ENST00000402934.1_Missense_Mutation_p.E166A|LTBP1_ENST00000407925.1_Missense_Mutation_p.E166A|LTBP1_ENST00000404525.1_Missense_Mutation_p.E166A|LTBP1_ENST00000354476.3_Missense_Mutation_p.E492A|LTBP1_ENST00000390003.4_Missense_Mutation_p.E166A			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	492					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E492A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CATCCTCCTGAAGCTTCCGTC	0.438																																																1	Substitution - Missense(1)	kidney(1)											89	87	88					2																	33413692		2203	4300	6503	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1475A>C	2.37:g.33413692A>C	ENSP00000386043:p.Glu492Ala		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195318	0.78902	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.85411	-1.98;-1.95;-1.78;-1.75;-1.82;-1.81;-1.76	5.38	5.38	0.77491	.	.	.	.	.	D	0.91112	0.7202	M	0.66297	2.02	0.80722	D	1	D;P;D;D;D;D	0.76494	0.994;0.9;0.999;0.99;0.971;0.997	P;P;D;P;P;P	0.71870	0.81;0.516;0.975;0.848;0.775;0.907	D	0.92127	0.5709	9	0.87932	D	0	.	15.7502	0.77980	1.0:0.0:0.0:0.0	.	492;166;166;166;166;492	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	A	492;492;181;166;166;166;166;166	ENSP00000386043:E492A;ENSP00000346467:E492A;ENSP00000374653:E166A;ENSP00000393057:E166A;ENSP00000384373:E166A;ENSP00000385359:E166A;ENSP00000384091:E166A	ENSP00000346467:E492A	E	+	2	0	LTBP1	33267196	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	8.549000	0.90672	2.192000	0.70111	0.449000	0.29647	GAA		0.438	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		C	33413692	A	C	33413692	3	2	568	1	0	0	0	0	1	0	0	0	9075	246	9	5	1556	5	LTBP1	2	33413692	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	4946022	33413692	209785681	15	30780											
SMEK2	57223	hgsc.bcm.edu;ucsc.edu	37	2	55813839	55813840	+	Frame_Shift_Ins	INS	-	-	A	rs35266904		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:55813839_55813840insA	ENST00000345102.5	-	6	1331_1332	c.1030_1031insT	c.(1030-1032)tctfs	p.S344fs	SMEK2_ENST00000272313.5_Frame_Shift_Ins_p.S344fs|SMEK2_ENST00000407823.3_Frame_Shift_Ins_p.S344fs	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	344					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.S344Y(1)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAATGTCTGAGAAAATGCACAA	0.332																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1031dupT	2.37:g.55813843_55813843dupA	ENSP00000339769:p.Ser344fs		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Frame_Shift_Ins	INS	ENST00000345102.5	37	CCDS46289.1																																																																																				0.332	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		A	55813840	-	A	55813839	7	5	568	1	0	1	1	0	0	0	0	0	14800	942	33	0	1566	0	SMEK2	2	55813839	Frame_Shift_Ins	INS	-	TCGA-CW-6093-01A-11D-1669-08	22400147	55813839	187385534	16	30781											
REG3G	130120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	79255386	79255386	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:79255386G>T	ENST00000272324.5	+	6	696	c.512G>T	c.(511-513)tGc>tTc	p.C171F	REG3G_ENST00000409471.1_Missense_Mutation_p.C125F|REG3G_ENST00000393897.2_Missense_Mutation_p.C171F	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	171	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.C171F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCTATGTCTGCAAGTTCAAG	0.493																																																1	Substitution - Missense(1)	kidney(1)											94	87	90					2																	79255386		2203	4300	6503	SO:0001583	missense	130120			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.512G>T	2.37:g.79255386G>T	ENSP00000272324:p.Cys171Phe		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569329	0.65765	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	D;D;D	0.97688	-2.74;-2.74;-4.49	4.66	4.66	0.58398	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000020	D	0.99177	0.9715	H	0.98048	4.135	0.46167	D	0.9989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98602	1.0659	10	0.87932	D	0	.	13.2737	0.60177	0.0:0.0:1.0:0.0	.	125;171	Q3SYE6;Q6UW15	.;REG3G_HUMAN	F	171;171;125	ENSP00000377475:C171F;ENSP00000272324:C171F;ENSP00000387105:C125F	ENSP00000272324:C171F	C	+	2	0	REG3G	79108894	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.984000	0.56923	2.585000	0.87301	0.650000	0.86243	TGC		0.493	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		T	79255386	G	T	79255386	3	4	568	1	0	0	0	0	1	0	0	0	13219	1319	46	4	530	4	REG3G	2	79255386	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	23441547	79255386	163943987	17	30782											
RANBP2	5903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109357073	109357073	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:109357073G>A	ENST00000283195.6	+	7	1037	c.911G>A	c.(910-912)aGt>aAt	p.S304N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	304					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S304N(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGTCAGCATAGTAGTAATGTT	0.413																																																2	Substitution - Missense(2)	kidney(2)											238	246	243					2																	109357073		2052	3903	5955	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.911G>A	2.37:g.109357073G>A	ENSP00000283195:p.Ser304Asn		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	7.916	0.737543	0.15574	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.32988	1.43	.	.	.	.	.	.	.	.	T	0.12092	0.0294	N	0.08118	0	0.20196	N	0.999928	.	.	.	.	.	.	T	0.34329	-0.9833	5	0.13470	T	0.59	.	.	.	.	.	304	P49792	RBP2_HUMAN	N	304	ENSP00000283195:S304N	ENSP00000283195:S304N	S	+	2	0	RANBP2	108723505	0.117000	0.22190	0.847000	0.33407	0.978000	0.69477	0.089000	0.15002	0.064000	0.16427	0.064000	0.15345	AGT		0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		A	109357073	G	A	109357073	3	1	568	1	0	0	0	0	1	0	0	0	13034	1029	36	2	937	2	RANBP2	2	109357073	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	30101687	109357073	133842300	18	30783											
LIMS2	55679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128414990	128414990	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:128414990C>G	ENST00000355119.4	-	2	323	c.158G>C	c.(157-159)gGg>gCg	p.G53A	LIMS2_ENST00000410011.1_Missense_Mutation_p.G48A|LIMS2_ENST00000324938.5_Missense_Mutation_p.G77A|LIMS2_ENST00000545738.2_Missense_Mutation_p.G75A|LIMS2_ENST00000409455.1_Missense_Mutation_p.G48A|LIMS2_ENST00000409808.2_Missense_Mutation_p.G48A	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	53	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.G77A(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		ATAGAAGAGCCCCTCGGGGAA	0.637																																																1	Substitution - Missense(1)	kidney(1)											74	69	71					2																	128414990		2203	4300	6503	SO:0001583	missense	55679			AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.158G>C	2.37:g.128414990C>G	ENSP00000347240:p.Gly53Ala		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.844823	0.91197	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.25	5.25	0.73442	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	M	0.83692	2.655	0.80722	D	1	P;D;D	0.89917	0.917;0.999;1.0	P;D;D	0.83275	0.712;0.989;0.996	D	0.93648	0.6970	10	0.45353	T	0.12	.	18.8407	0.92183	0.0:1.0:0.0:0.0	.	75;53;77	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	A	75;53;77;48;48;48;48;75;48	ENSP00000443794:G75A;ENSP00000347240:G53A;ENSP00000326888:G77A;ENSP00000386383:G48A;ENSP00000386637:G48A;ENSP00000387002:G48A	ENSP00000326888:G77A	G	-	2	0	LIMS2	128131460	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.376000	0.79658	2.449000	0.82847	0.462000	0.41574	GGG		0.637	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		G	128414990	C	G	128414990	3	3	568	1	0	0	0	0	1	0	0	0	8806	623	22	4	903	4	LIMS2	2	128414990	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	19057917	128414990	114784383	19	30784											
FAM123C	205147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	131520963	131520963	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:131520963G>A	ENST00000423981.1	+	2	1428	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N	AMER3_ENST00000321420.4_Missense_Mutation_p.D440N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	440					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.D440N(1)									CAGCCCAGATGATGACCTGTG	0.662																																																1	Substitution - Missense(1)	kidney(1)											38	39	38					2																	131520963		2203	4299	6502	SO:0001583	missense	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1318G>A	2.37:g.131520963G>A	ENSP00000392700:p.Asp440Asn		B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338381	0.41398	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.21361	2.01;2.01	5.2	4.32	0.51571	.	0.109437	0.39909	N	0.001232	T	0.23210	0.0561	L	0.32530	0.975	0.25200	N	0.990067	P	0.46020	0.871	P	0.51266	0.664	T	0.04551	-1.0943	10	0.62326	D	0.03	.	8.0989	0.30846	0.1837:0.0:0.8163:0.0	.	440	Q8N944	F123C_HUMAN	N	440	ENSP00000314914:D440N;ENSP00000392700:D440N	ENSP00000314914:D440N	D	+	1	0	FAM123C	131237433	1.000000	0.71417	0.296000	0.24974	0.151000	0.21798	4.638000	0.61353	1.330000	0.45394	0.561000	0.74099	GAT		0.662	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		A	131520963	G	A	131520963	3	1	568	1	0	0	0	0	1	0	0	0	5426	1290	45	2	1320	2	FAM123C	2	131520963	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	3105973	131520963	111678410	20	30785											
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	168104885	168104885	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:168104885C>T	ENST00000409195.1	+	9	7072	c.6983C>T	c.(6982-6984)tCa>tTa	p.S2328L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2328L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2106L|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2153					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S2328L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTCTTCCCTCACTGTCCACA	0.438																																																1	Substitution - Missense(1)	kidney(1)											138	136	137					2																	168104885		1884	4104	5988	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6983C>T	2.37:g.168104885C>T	ENSP00000386840:p.Ser2328Leu		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.037163	0.00406	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02812	4.16;4.16;4.15	5.95	3.94	0.45596	.	0.517876	0.19831	N	0.105086	T	0.03095	0.0091	L	0.45137	1.4	0.09310	N	1	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.06405	0.001;0.002;0.002	T	0.42327	-0.9458	10	0.15952	T	0.53	-2.1725	10.3607	0.43991	0.0:0.7946:0.0:0.2054	.	2153;2153;2106	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	2328;2328;2106	ENSP00000386840:S2328L;ENSP00000295237:S2328L;ENSP00000387255:S2106L	ENSP00000295237:S2328L	S	+	2	0	XIRP2	167813131	0.000000	0.05858	0.042000	0.18584	0.126000	0.20510	0.328000	0.19681	1.531000	0.49152	0.655000	0.94253	TCA		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168104885	C	T	168104885	3	4	568	1	0	0	0	0	1	0	0	0	17435	838	29	2	7013	2	XIRP2	2	168104885	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	36583922	168104885	75094488	21	30786											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179425394	179425394	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:179425394C>G	ENST00000591111.1	-	276	80766	c.80542G>C	c.(80542-80544)Gaa>Caa	p.E26848Q	TTN_ENST00000342992.6_Missense_Mutation_p.E25921Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28489Q|TTN_ENST00000342175.6_Missense_Mutation_p.E19616Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19549Q|TTN_ENST00000460472.2_Missense_Mutation_p.E19424Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26848	Fibronectin type-III 95. {ECO:0000255|PROSITE-ProRule:PRU00316}.			IVE -> HRK (in Ref. 1; CAA62188). {ECO:0000305}.	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)	p.E19616Q(1)|p.E25919Q(1)|p.E25921Q(1)|p.E19549Q(1)		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)			TCACGTTTTTCTACGATGTAA	0.423																																																4	Substitution - Missense(4)	kidney(4)											57	58	58					2																	179425394		1962	4152	6114	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80542G>C	2.37:g.179425394C>G	ENSP00000465570:p.Glu26848Gln		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	Missense_Mutation	SNP	ENST00000591111.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.97|13.97	2.396118|2.396118	0.42512|0.42512	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218|ENST00000356127	T;T;T;T|.	0.57436|.	0.4;0.4;0.4;0.4|.	5.97|5.97	5.09|5.09	0.68999|0.68999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.71451|0.71451	0.3341|0.3341	L|L	0.53561|0.53561	1.675|1.675	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.998;0.998;0.998;0.998|.	T|T	0.74797|0.74797	-0.3543|-0.3543	9|6	0.87932|0.87932	D|D	0|0	.|.	16.6367|16.6367	0.85060|0.85060	0.1311:0.8689:0.0:0.0|0.1311:0.8689:0.0:0.0	.|.	19424;19549;19616;26848|.	D3DPF9;E7EQE6;E7ET18;Q8WZ42|.	.;.;.;TITIN_HUMAN|.	Q|T	25921;19424;19616;19549|19421	ENSP00000343764:E25921Q;ENSP00000434586:E19424Q;ENSP00000340554:E19616Q;ENSP00000352154:E19549Q|.	ENSP00000340554:E19616Q|ENSP00000348444:R19421T	E|R	-|-	1|2	0|0	TTN|TTN	179133640|179133640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	7.818000|7.818000	0.86416|0.86416	1.523000|1.523000	0.49018|0.49018	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179425394	C	G	179425394	3	3	568	1	0	0	0	0	1	0	0	0	16740	922	32	4	22662	4	TTN	2	179425394	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	11320509	179425394	63773979	22	30787											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179426804	179426804	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:179426804A>T	ENST00000591111.1	-	276	79356	c.79132T>A	c.(79132-79134)Tca>Aca	p.S26378T	TTN_ENST00000342992.6_Missense_Mutation_p.S25451T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S28019T|TTN_ENST00000342175.6_Missense_Mutation_p.S19146T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19079T|TTN_ENST00000460472.2_Missense_Mutation_p.S18954T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26378	Ig-like 127.				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)	p.S25451T(1)|p.S25449T(1)|p.S18954T(1)|p.S19079T(1)|p.S19146T(1)		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)			ATAGATAGTGATGTTACAGTC	0.353																																																5	Substitution - Missense(5)	kidney(5)											44	46	45					2																	179426804		1879	4103	5982	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79132T>A	2.37:g.179426804A>T	ENSP00000465570:p.Ser26378Thr		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	10.96	1.498614	0.26861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	6.05	2.22	0.28083	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49745	0.1575	N	0.25485	0.75	0.21105	N	0.999789	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.44528	-0.9322	9	0.87932	D	0	.	12.4872	0.55879	0.743:0.0:0.0:0.257	.	18954;19079;19146;26378	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	25451;18954;19146;19079;18952	ENSP00000343764:S25451T;ENSP00000434586:S18954T;ENSP00000340554:S19146T;ENSP00000352154:S19079T	ENSP00000340554:S19146T	S	-	1	0	TTN	179135050	1.000000	0.71417	0.700000	0.30305	0.994000	0.84299	3.154000	0.50693	0.125000	0.18397	0.528000	0.53228	TCA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179426804	A	T	179426804	3	4	568	1	0	0	0	0	1	0	0	0	16740	333	12	5	24072	5	TTN	2	179426804	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	1410	179426804	63772569	23	30788											
HECW2	57520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	197184155	197184155	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:197184155C>T	ENST00000260983.3	-	9	1641	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S	HECW2_ENST00000409111.1_Missense_Mutation_p.G131S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	487					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G487S(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGATCAGGCCTCCCTCCTCC	0.498																																																1	Substitution - Missense(1)	kidney(1)											59	54	55					2																	197184155		2203	4300	6503	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1459G>A	2.37:g.197184155C>T	ENSP00000260983:p.Gly487Ser		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865072	0.71949	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.36340	1.26;1.4	5.5	5.5	0.81552	.	0.857310	0.10760	N	0.637226	T	0.24314	0.0589	N	0.08118	0	0.46823	D	0.999218	P	0.40970	0.734	B	0.37731	0.257	T	0.21690	-1.0238	10	0.29301	T	0.29	.	17.7634	0.88470	0.0:1.0:0.0:0.0	.	487	Q9P2P5	HECW2_HUMAN	S	131;487	ENSP00000386775:G131S;ENSP00000260983:G487S	ENSP00000260983:G487S	G	-	1	0	HECW2	196892400	0.940000	0.31905	0.635000	0.29338	0.943000	0.58893	3.429000	0.52800	2.868000	0.98415	0.555000	0.69702	GGC		0.498	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		T	197184155	C	T	197184155	3	4	568	1	0	0	0	0	1	0	0	0	7045	681	24	2	3343	2	HECW2	2	197184155	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	17757351	197184155	46015218	24	30789											
ERBB4	2066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	212252692	212252692	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:212252692G>T	ENST00000342788.4	-	26	3471	c.3161C>A	c.(3160-3162)cCt>cAt	p.P1054H	ERBB4_ENST00000436443.1_Intron|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1044H	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1054					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P1054H(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGTGTAGGCAGGAGGAGGGCT	0.373										TSP Lung(8;0.080)																																						1	Substitution - Missense(1)	kidney(1)											118	125	123					2																	212252692		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3161C>A	2.37:g.212252692G>T	ENSP00000342235:p.Pro1054His		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831770	0.50845	.	.	ENSG00000178568	ENST00000342788;ENST00000402597	T;T	0.74632	-0.86;-0.86	5.99	5.99	0.97316	.	0.126644	0.52532	D	0.000070	T	0.75932	0.3917	N	0.08118	0	0.53688	D	0.999978	D;D	0.76494	0.966;0.999	P;D	0.80764	0.717;0.994	T	0.78833	-0.2048	10	0.44086	T	0.13	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1044;1054	Q15303-2;Q15303	.;ERBB4_HUMAN	H	1054;1044	ENSP00000342235:P1054H;ENSP00000385565:P1044H	ENSP00000342235:P1054H	P	-	2	0	ERBB4	211960937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.778000	0.75043	2.840000	0.97914	0.655000	0.94253	CCT		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		T	212252692	G	T	212252692	3	4	568	1	0	0	0	0	1	0	0	0	5211	1000	35	4	777	4	ERBB4	2	212252692	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	15068537	212252692	30946681	25	30790											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188224	10188224	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:10188224delG	ENST00000256474.2	+	2	1207	c.367delG	c.(367-369)gggfs	p.G123fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	123	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)|p.G123W(1)|p.R120fs*34(1)|p.L118_G123>P(1)|p.G123fs*8(1)|p.A122fs*7(1)|p.D121fs*35(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAGAGATGCAGGGACACACGA	0.507		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	7	Deletion - Frameshift(4)|Substitution - Missense(1)|Unknown(1)|Complex - deletion inframe(1)	kidney(6)|lung(1)											192	178	183					3																	10188224		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.367delG	3.37:g.10188224delG	ENSP00000256474:p.Gly123fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188224	G	-	10188224	7	5	568	1	0	1	0	1	0	0	0	0	17167	1000	35	0	373	0	VHL	3	10188224	Frame_Shift_Del	DEL	G	TCGA-CW-6093-01A-11D-1669-08		10188224	187834206	26	30791											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52682459	52682459	+	Splice_Site	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:52682459C>T	ENST00000296302.7	-	7	716		c.e7-1		PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGCTTCCATTCTACAATAAAC	0.338			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Unknown(3)	kidney(3)											140	136	137					3																	52682459		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.715-1G>A	3.37:g.52682459C>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	25.5	4.648243	0.87958	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3965	0.94608	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52657499	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.660000	0.74417	2.678000	0.91216	0.650000	0.86243	.		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	T	52682459	C	T	52682459	5	4	568	1	0	0	0	0	0	0	1	0	11493	927	32	2	4282	2	PBRM1	3	52682459	Splice_Site	SNP	C	TCGA-CW-6093-01A-11D-1669-08	42494235	52682459	145339971	27	30792											
ROBO2	6092	broad.mit.edu	37	3	77147239	77147239	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:77147239G>A	ENST00000461745.1	+	2	1036	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ROBO2_ENST00000487694.3_Missense_Mutation_p.E62K|ROBO2_ENST00000332191.8_Missense_Mutation_p.E46K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	46	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.E46K(1)|p.E62K(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTCTAAGGGCGAGCCCACGAC	0.577																																																2	Substitution - Missense(2)	kidney(2)											48	53	51					3																	77147239		1966	4157	6123	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.136G>A	3.37:g.77147239G>A	ENSP00000417164:p.Glu46Lys		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877863	0.91664	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.42513	0.97;0.97;0.97	4.96	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38778	U	0.001567	T	0.37892	0.1020	L	0.33245	0.995	0.38510	D	0.948446	D;P;P	0.54397	0.966;0.925;0.87	B;B;B	0.42882	0.401;0.279;0.401	T	0.53927	-0.8369	9	0.66056	D	0.02	.	18.2024	0.89843	0.0:0.0:1.0:0.0	.	62;46;46	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	K	62;62;62;46;46	ENSP00000417335:E62K;ENSP00000417164:E46K;ENSP00000327536:E46K	ENSP00000327536:E46K	E	+	1	0	ROBO2	77229929	1.000000	0.71417	0.996000	0.52242	0.414000	0.31173	9.864000	0.99589	2.283000	0.76528	0.655000	0.94253	GAG		0.577	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		A	77147239	G	A	77147239	3	1	568	1	0	0	0	0	1	0	0	0	13520	1059	37	1	144	1	ROBO2	3	77147239	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	24464780	77147239	120875191	28	30793											
SENP7	57337	hgsc.bcm.edu;ucsc.edu	37	3	101090968	101090968	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:101090968delC	ENST00000394095.2	-	7	733	c.680delG	c.(679-681)ggcfs	p.G227fs	SENP7_ENST00000394091.1_Frame_Shift_Del_p.G63fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.G63fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.G161fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.G162fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.G194fs	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	227						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCGTTGTGAGCCCCTGCAAAA	0.348																																																0													109	105	106					3																	101090968		2203	4300	6503	SO:0001589	frameshift_variant	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.680delG	3.37:g.101090968delC	ENSP00000377655:p.Gly227fs		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Frame_Shift_Del	DEL	ENST00000394095.2	37	CCDS2941.2																																																																																				0.348	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		-	101090968	C	-	101090968	7	5	568	1	0	1	0	1	0	0	0	0	14057	739	26	0	2544	0	SENP7	3	101090968	Frame_Shift_Del	DEL	C	TCGA-CW-6093-01A-11D-1669-08	23943729	101090968	96931462	29	30794											
CD200	4345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	112059811	112059811	+	Silent	SNP	G	G	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:112059811G>C	ENST00000315711.8	+	2	132	c.75G>C	c.(73-75)gtG>gtC	p.V25V	CD200_ENST00000473539.1_Silent_p.V50V|CD200_ENST00000383681.3_Intron	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	25					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V50V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TGGCAGCAGTGGTGCTGTGCA	0.488																																																1	Substitution - coding silent(1)	kidney(1)											128	108	115					3																	112059811		2203	4300	6503	SO:0001819	synonymous_variant	4345				CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7203	protein-coding gene	gene with protein product		155970	"antigen identified by monoclonal antibody MRC OX-2", "CD200 antigen"	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.75G>C	3.37:g.112059811G>C			B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Silent	SNP	ENST00000315711.8	37	CCDS2965.1																																																																																				0.488	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354078.1			C	112059811	G	C	112059811	2	2	568	1	0	0	0	0	0	0	0	1	2982	1335	47	4		4	CD200	3	112059811	Silent	SNP	G	TCGA-CW-6093-01A-11D-1669-08	10968843	112059811	85962619	30	30795											
H1FX	8971	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	129034182	129034182	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:129034182C>G	ENST00000333762.4	-	1	938	c.564G>C	c.(562-564)aaG>aaC	p.K188N	H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000502789.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	188					nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K188N(1)		kidney(1)|ovary(1)|urinary_tract(2)	4						CGGCCGCCGTCTTCTTGGCCT	0.697																																																1	Substitution - Missense(1)	kidney(1)											14	16	15					3																	129034182		2198	4293	6491	SO:0001583	missense	8971			D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"Histones / Replication-independent"	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.564G>C	3.37:g.129034182C>G	ENSP00000329662:p.Lys188Asn			Missense_Mutation	SNP	ENST00000333762.4	37	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310797	0.40895	.	.	ENSG00000184897	ENST00000333762	T	0.11495	2.77	4.44	3.54	0.40534	.	0.882828	0.09068	U	0.853229	T	0.20659	0.0497	L	0.29908	0.895	0.37066	D	0.898286	D	0.89917	1.0	D	0.83275	0.996	T	0.07790	-1.0754	10	0.30078	T	0.28	-12.4082	10.4961	0.44778	0.0:0.8992:0.0:0.1008	.	188	Q92522	H1X_HUMAN	N	188	ENSP00000329662:K188N	ENSP00000329662:K188N	K	-	3	2	H1FX	130516872	0.758000	0.28405	1.000000	0.80357	0.475000	0.33008	0.526000	0.22971	2.003000	0.58678	0.491000	0.48974	AAG		0.697	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2	NM_006026		G	129034182	C	G	129034182	3	3	568	1	0	0	0	0	1	0	0	0	6925	912	32	4	81	4	H1FX	3	129034182	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	16974371	129034182	68988248	31	30796											
XRN1	54464	broad.mit.edu	37	3	142031463	142031463	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:142031463G>A	ENST00000264951.4	-	41	4912	c.4795C>T	c.(4795-4797)Cac>Tac	p.H1599Y	XRN1_ENST00000392981.2_Missense_Mutation_p.H1587Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1599					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.H1599Y(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AACTGATTGTGCACACCCCCT	0.393																																																1	Substitution - Missense(1)	kidney(1)											58	60	59					3																	142031463		2203	4300	6503	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4795C>T	3.37:g.142031463G>A	ENSP00000264951:p.His1599Tyr		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381468	0.82792	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.39787	1.2;1.06	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.993	T	0.53718	-0.8399	10	0.41790	T	0.15	-10.7716	19.0155	0.92892	0.0:0.0:1.0:0.0	.	1587;1599	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	Y	1599;1587	ENSP00000264951:H1599Y;ENSP00000376707:H1587Y	ENSP00000264951:H1599Y	H	-	1	0	XRN1	143514153	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	5.048000	0.64238	2.477000	0.83638	0.655000	0.94253	CAC		0.393	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		A	142031463	G	A	142031463	3	1	568	1	0	0	0	0	1	0	0	0	17464	1319	46	2	333	2	XRN1	3	142031463	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	12997281	142031463	55990967	32	30797											
PLS1	5357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142430381	142430381	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:142430381A>T	ENST00000337777.3	+	15	1881	c.1668A>T	c.(1666-1668)ttA>ttT	p.L556F	PLS1_ENST00000497002.1_Missense_Mutation_p.L556F|PLS1_ENST00000457734.2_Missense_Mutation_p.L556F	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	556	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L556F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TCCTAGATTTAATAGATGCCA	0.333																																																1	Substitution - Missense(1)	kidney(1)											83	82	82					3																	142430381		2203	4300	6503	SO:0001583	missense	5357			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1668A>T	3.37:g.142430381A>T	ENSP00000336831:p.Leu556Phe		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888263	0.72524	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.98455	-4.94;-4.94;-4.94	5.92	3.56	0.40772	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	M	0.91249	3.19	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.99000	1.0811	10	0.87932	D	0	-8.7177	10.154	0.42812	0.8661:0.0:0.1339:0.0	.	556	Q14651	PLSI_HUMAN	F	556	ENSP00000387890:L556F;ENSP00000336831:L556F;ENSP00000418700:L556F	ENSP00000336831:L556F	L	+	3	2	PLS1	143913071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.642000	0.46596	0.510000	0.28216	0.528000	0.53228	TTA		0.333	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		T	142430381	A	T	142430381	3	4	568	1	0	0	0	0	1	0	0	0	12109	359	13	5	1722	5	PLS1	3	142430381	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	398918	142430381	55592049	33	30798											
C3orf57	165679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	161064028	161064028	+	Silent	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:161064028G>T	ENST00000359175.4	-	3	1654	c.84C>A	c.(82-84)ccC>ccA	p.P28P	SPTSSB_ENST00000497137.1_Silent_p.P28P	NM_001040100.1	NP_001035189.1	Q8NFR3	SPTSB_HUMAN	serine palmitoyltransferase, small subunit B	28					sphingolipid biosynthetic process (GO:0030148)	integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)		p.P28P(1)									ATCGCTCCCAGGGCTCTAAAA	0.443																																																1	Substitution - coding silent(1)	kidney(1)											93	89	91					3																	161064028		2203	4300	6503	SO:0001819	synonymous_variant	0			AF458592	CCDS33887.1	3q26.1	2011-07-26	2011-07-26	2011-07-26	ENSG00000196542	ENSG00000196542			24045	protein-coding gene	gene with protein product	"androgen down regulated in mouse prostate", "small subunit of serine palmitoyltransferase B"	610412	"chromosome 3 open reading frame 57"	C3orf57		15777716, 19416851	Standard	NM_001040100		Approved	ADMP, ssSPTb	uc003fee.3	Q8NFR3	OTTHUMG00000159073	ENST00000359175.4:c.84C>A	3.37:g.161064028G>T			B2R5D3|D3DNM8|Q0P5S6	Silent	SNP	ENST00000359175.4	37	CCDS33887.1																																																																																				0.443	SPTSSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353181.1	NM_145035		T	161064028	G	T	161064028	2	4	568	1	0	0	0	0	0	0	0	1	2237	987	35	4		4	C3orf57	3	161064028	Silent	SNP	G	TCGA-CW-6093-01A-11D-1669-08	18633647	161064028	36958402	34	30799											
CLCN2	1181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184079226	184079226	+	Silent	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:184079226C>G	ENST00000265593.4	-	1	213	c.42G>C	c.(40-42)gcG>gcC	p.A14A	CLCN2_ENST00000457512.1_Silent_p.A14A|POLR2H_ENST00000438240.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.A14A|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Silent_p.A14A|POLR2H_ENST00000456318.1_5'Flank|POLR2H_ENST00000443489.1_5'Flank|POLR2H_ENST00000430783.1_5'Flank|POLR2H_ENST00000429568.1_5'Flank|POLR2H_ENST00000452961.1_5'Flank|POLR2H_ENST00000296223.3_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	14					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.A14A(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CGTACTGCAGCGCCCGTGGCT	0.701																																																1	Substitution - coding silent(1)	kidney(1)											55	57	56					3																	184079226		2203	4300	6503	SO:0001819	synonymous_variant	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.42G>C	3.37:g.184079226C>G			B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	CCDS3263.1																																																																																				0.701	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			G	184079226	C	G	184079226	2	3	568	1	0	0	0	0	0	0	0	1	3465	755	27	4		4	CLCN2	3	184079226	Silent	SNP	C	TCGA-CW-6093-01A-11D-1669-08	23015198	184079226	13943204	35	30800											
ZNF131	7690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43161423	43161423	+	Silent	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr5:43161423A>G	ENST00000399534.1	+	5	488	c.444A>G	c.(442-444)gcA>gcG	p.A148A	ZNF131_ENST00000306938.4_Silent_p.A148A|ZNF131_ENST00000509634.1_Silent_p.A148A|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Silent_p.A148A|ZNF131_ENST00000505606.2_Silent_p.A148A			P52739	ZN131_HUMAN	zinc finger protein 131	148				AETS -> CSKA (in Ref. 5; AAC50251). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A148A(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GGAAGATTGCAGAAACTTCAA	0.388																																																1	Substitution - coding silent(1)	kidney(1)											107	98	101					5																	43161423		1858	4107	5965	SO:0001819	synonymous_variant	7690			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.444A>G	5.37:g.43161423A>G			B4DRL3|Q6PIF0	Silent	SNP	ENST00000399534.1	37																																																																																					0.388	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		G	43161423	A	G	43161423	2	3	568	1	0	0	0	0	0	0	0	1	17726	175	7	3		3	ZNF131	5	43161423	Silent	SNP	A	TCGA-CW-6093-01A-11D-1669-08		43161423	137753837	36	30801											
SNX18	112574	broad.mit.edu;hgsc.bcm.edu	37	5	53839239	53839239	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr5:53839239C>A	ENST00000381410.4	+	2	2042	c.1852C>A	c.(1852-1854)Ctt>Att	p.L618I	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	471	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.L618I(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GGAAGAAGCTCTTCACAAATA	0.343																																																1	Substitution - Missense(1)	kidney(1)											53	51	52					5																	53839239		1814	4082	5896	SO:0001583	missense	112574			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000381410.4:c.1852C>A	5.37:g.53839239C>A	ENSP00000370817:p.Leu618Ile		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000381410.4	37	CCDS43317.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416572	0.83449	.	.	ENSG00000178996	ENST00000381410	T	0.17054	2.3	5.92	5.92	0.95590	.	.	.	.	.	T	0.41305	0.1153	.	.	.	0.80722	D	1	D	0.53151	0.958	P	0.59012	0.85	T	0.13019	-1.0525	8	0.72032	D	0.01	.	18.5075	0.90902	0.0:1.0:0.0:0.0	.	618	Q96RF0-2	.	I	618	ENSP00000370817:L618I	ENSP00000370817:L618I	L	+	1	0	SNX18	53874996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.743000	0.68655	2.794000	0.96219	0.650000	0.86243	CTT		0.343	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214073.2			A	53839239	C	A	53839239	3	1	568	1	0	0	0	0	1	0	0	0	14895	913	32	4	2124	4	SNX18	5	53839239	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	10677816	53839239	127076021	37	30802											
CDC25C	995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137621758	137621758	+	Silent	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr5:137621758G>A	ENST00000323760.6	-	13	1503	c.1225C>T	c.(1225-1227)Cta>Tta	p.L409L	CDC25C_ENST00000356505.3_Silent_p.L379L|CDC25C_ENST00000514555.1_Silent_p.L379L|CDC25C_ENST00000357274.3_Silent_p.L366L|CDC25C_ENST00000348983.3_Silent_p.L336L|CDC25C_ENST00000415130.2_Silent_p.L336L|CDC25C_ENST00000513970.1_Silent_p.L409L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	409	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)	p.L409L(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGGATATATAGCTCTGGGTAG	0.507																																																1	Substitution - coding silent(1)	kidney(1)											106	111	109					5																	137621758		2203	4300	6503	SO:0001819	synonymous_variant	995			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"Protein tyrosine phosphatases / Class III Cys-based PTPs", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1727	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 60"	157680	"cell division cycle 25C", "cell division cycle 25 homolog C (S. cerevisiae)", "cell division cycle 25 homolog C (S. pombe)"	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1225C>T	5.37:g.137621758G>A			D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Silent	SNP	ENST00000323760.6	37	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	G	7.376	0.627890	0.14257	.	.	ENSG00000158402	ENST00000514017	.	.	.	5.12	4.26	0.50523	.	.	.	.	.	T	0.64000	0.2559	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63305	-0.6667	4	.	.	.	-10.9519	12.9436	0.58359	0.0793:0.0:0.9207:0.0	.	.	.	.	V	210	.	.	A	-	2	0	CDC25C	137649657	1.000000	0.71417	0.991000	0.47740	0.958000	0.62258	4.734000	0.62043	1.539000	0.49286	-0.136000	0.14681	GCT		0.507	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			A	137621758	G	A	137621758	2	1	568	1	0	0	0	0	0	0	0	1	3066	962	34	2		2	CDC25C	5	137621758	Silent	SNP	G	TCGA-CW-6093-01A-11D-1669-08	83782519	137621758	43293502	38	30803											
WDR55	54853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140049085	140049085	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr5:140049085A>C	ENST00000358337.5	+	7	1235	c.998A>C	c.(997-999)gAt>gCt	p.D333A	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	333					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.D333A(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGGTGGATGACTACCGT	0.607																																																1	Substitution - Missense(1)	kidney(1)											39	42	41					5																	140049085		2203	4300	6503	SO:0001583	missense	54853			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"WD repeat domain containing"	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.998A>C	5.37:g.140049085A>C	ENSP00000351100:p.Asp333Ala		Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857262	0.51376	.	.	ENSG00000120314	ENST00000358337	T	0.29917	1.55	5.29	5.29	0.74685	.	0.532223	0.17532	N	0.170851	T	0.19927	0.0479	L	0.29908	0.895	0.50632	D	0.999885	P	0.35507	0.506	B	0.24155	0.051	T	0.06180	-1.0841	10	0.15952	T	0.53	-10.0272	14.8838	0.70553	1.0:0.0:0.0:0.0	.	333	Q9H6Y2	WDR55_HUMAN	A	333	ENSP00000351100:D333A	ENSP00000351100:D333A	D	+	2	0	WDR55	140029269	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.929000	0.70096	1.987000	0.57996	0.383000	0.25322	GAT		0.607	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		C	140049085	A	C	140049085	3	2	568	1	0	0	0	0	1	0	0	0	17312	333	12	5	1024	5	WDR55	5	140049085	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	2427327	140049085	40866175	39	30804											
BRD2	6046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	32942463	32942463	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:32942463T>C	ENST00000374825.4	+	3	1955	c.254T>C	c.(253-255)gTa>gCa	p.V85A	BRD2_ENST00000449085.2_Missense_Mutation_p.V38A|XXbac-BPG181M17.6_ENST00000580587.1_RNA|BRD2_ENST00000395289.2_Missense_Mutation_p.V85A|BRD2_ENST00000395287.1_Missense_Mutation_p.V85A|BRD2_ENST00000374831.4_Missense_Mutation_p.V85A|BRD2_ENST00000443797.2_5'UTR	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	85					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.V85A(1)		central_nervous_system(3)|stomach(2)	5						CTACACAAGGTAGTGATGAAG	0.547																																																1	Substitution - Missense(1)	kidney(1)											75	68	70					6																	32942463		2203	4300	6503	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.254T>C	6.37:g.32942463T>C	ENSP00000363958:p.Val85Ala		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.86|14.86	2.661549|2.661549	0.47572|0.47572	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000395287;ENST00000449085|ENST00000456339;ENST00000449025	T;T;T;T;T|.	0.18016|.	2.24;2.24;2.24;2.24;2.24|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Bromodomain (3);|.	0.000000|.	0.43110|.	D|.	0.000612|.	T|.	0.42720|.	0.1215|.	L|L	0.31926|0.31926	0.97|0.97	0.80722|0.80722	D|D	1|1	P;P|.	0.42871|.	0.792;0.641|.	P;P|.	0.51918|.	0.684;0.633|.	T|.	0.38243|.	-0.9670|.	10|.	0.33141|.	T|.	0.24|.	-15.1943|-15.1943	13.3662|13.3662	0.60684|0.60684	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	85;85|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	A|Q	85;85;85;85;38|87;91	ENSP00000363958:V85A;ENSP00000363964:V85A;ENSP00000378704:V85A;ENSP00000378702:V85A;ENSP00000409145:V38A|.	ENSP00000363958:V85A|.	V|X	+|+	2|1	0|0	BRD2|BRD2	33050441|33050441	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.159000|3.159000	0.50731|0.50731	2.247000|2.247000	0.74100|0.74100	0.523000|0.523000	0.50628|0.50628	GTA|TAG		0.547	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			C	32942463	T	C	32942463	3	2	568	1	0	0	0	0	1	0	0	0	1504	1638	57	3	260	3	BRD2	6	32942463	Missense_Mutation	SNP	T	TCGA-CW-6093-01A-11D-1669-08		32942463	138172604	40	30805											
MAPK13	5603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36103575	36103575	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:36103575G>T	ENST00000211287.4	+	4	616	c.354G>T	c.(352-354)atG>atT	p.M118I	MAPK13_ENST00000373766.5_Missense_Mutation_p.M118I|MAPK13_ENST00000373759.1_Missense_Mutation_p.M40I|MAPK13_ENST00000373761.6_Missense_Mutation_p.M118I|MAPK13_ENST00000490334.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.M118I(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGAAGATCATGGGGATGGAGT	0.582																																																2	Substitution - Missense(2)	kidney(2)											175	144	154					6																	36103575		2203	4300	6503	SO:0001583	missense	5603			Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.354G>T	6.37:g.36103575G>T	ENSP00000211287:p.Met118Ile		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500256	0.26861	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770;ENST00000373766;ENST00000373759	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	4.71	4.71	0.59529	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178653	0.38897	N	0.001539	T	0.09024	0.0223	N	0.00339	-1.615	0.45594	D	0.998533	B	0.06786	0.001	B	0.06405	0.002	T	0.43294	-0.9400	10	0.02654	T	1	-26.9637	17.7094	0.88317	0.0:0.0:1.0:0.0	.	118	O15264	MK13_HUMAN	I	118;118;118;118;40	ENSP00000362866:M118I;ENSP00000211287:M118I;ENSP00000362871:M118I;ENSP00000362864:M40I	ENSP00000211287:M118I	M	+	3	0	MAPK13	36211553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.668000	0.61568	2.199000	0.70637	0.555000	0.69702	ATG		0.582	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			T	36103575	G	T	36103575	3	4	568	1	0	0	0	0	1	0	0	0	9277	1348	47	4	368	4	MAPK13	6	36103575	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	3161112	36103575	135011492	41	30806											
CUL7	9820	broad.mit.edu	37	6	43013037	43013037	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:43013037T>C	ENST00000265348.3	-	15	3051	c.2966A>G	c.(2965-2967)tAc>tGc	p.Y989C	CUL7_ENST00000535468.1_Missense_Mutation_p.Y1073C|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	989	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.Y989C(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCGAACCATGTAGAAGAGGCG	0.597																																																1	Substitution - Missense(1)	kidney(1)											128	113	118					6																	43013037		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2966A>G	6.37:g.43013037T>C	ENSP00000265348:p.Tyr989Cys		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.853833	0.71719	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.83992	-1.76;-1.79	4.98	4.98	0.66077	Anaphase-promoting complex, subunit 10/DOC domain (1);	0.062936	0.64402	D	0.000004	D	0.83801	0.5333	L	0.54323	1.7	0.80722	D	1	P;D;P	0.89917	0.933;1.0;0.85	P;D;P	0.97110	0.557;1.0;0.836	D	0.83952	0.0317	10	0.39692	T	0.17	-7.3222	9.5813	0.39490	0.0:0.0899:0.0:0.9101	.	1073;1073;989	F5H0L1;B4DYZ0;Q14999	.;.;CUL7_HUMAN	C	989;1073	ENSP00000265348:Y989C;ENSP00000438788:Y1073C	ENSP00000265348:Y989C	Y	-	2	0	CUL7	43121015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.080000	0.64437	1.879000	0.54435	0.460000	0.39030	TAC		0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		C	43013037	T	C	43013037	3	2	568	1	0	0	0	0	1	0	0	0	4062	1638	57	3	2178	3	CUL7	6	43013037	Missense_Mutation	SNP	T	TCGA-CW-6093-01A-11D-1669-08	6909462	43013037	128102030	42	30807											
TAB2	23118	hgsc.bcm.edu;ucsc.edu	37	6	149699871	149699872	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:149699871_149699872insT	ENST00000367456.1	+	4	1397_1398	c.820_821insT	c.(820-822)aatfs	p.N274fs	TAB2_ENST00000392282.1_Frame_Shift_Ins_p.N274fs|TAB2_ENST00000286332.5_Frame_Shift_Ins_p.N274fs|TAB2_ENST00000538427.1_Frame_Shift_Ins_p.N274fs|TAB2_ENST00000536230.1_Frame_Shift_Ins_p.N242fs			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	274					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TCAACAGCCAAATCAGCAAGGC	0.48																																																0																																										SO:0001589	frameshift_variant	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	Exception_encountered	6.37:g.149699871_149699872insT	ENSP00000356426:p.Asn274fs		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Frame_Shift_Ins	INS	ENST00000367456.1	37	CCDS5214.1																																																																																				0.48	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			T	149699872	-	T	149699871	7	5	568	1	0	1	1	0	0	0	0	0	15501	14	1	0	826	0	TAB2	6	149699871	Frame_Shift_Ins	INS	-	TCGA-CW-6093-01A-11D-1669-08	106686834	149699871	21415196	43	30808											
MAP3K4	4216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	161470927	161470927	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:161470927G>T	ENST00000392142.4	+	3	1771	c.1623G>T	c.(1621-1623)aaG>aaT	p.K541N	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K541N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K541N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K541N	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	541					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.K541N(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTTAAGAAAGTTAATTTTAA	0.428																																																2	Substitution - Missense(2)	kidney(2)											86	91	89					6																	161470927		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1623G>T	6.37:g.161470927G>T	ENSP00000375986:p.Lys541Asn		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023676	0.54683	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.59	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	M	0.77820	2.39	0.45995	D	0.998802	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.27088	-1.0084	10	0.87932	D	0	-41.2722	10.7779	0.46361	0.2782:0.0:0.7218:0.0	.	541;541	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	N	541	ENSP00000355886:K541N;ENSP00000375986:K541N;ENSP00000355887:K541N;ENSP00000297332:K541N	ENSP00000297332:K541N	K	+	3	2	MAP3K4	161390917	1.000000	0.71417	0.758000	0.31321	0.997000	0.91878	2.019000	0.41001	1.367000	0.46095	0.655000	0.94253	AAG		0.428	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			T	161470927	G	T	161470927	3	4	568	1	0	0	0	0	1	0	0	0	9254	1020	36	4	1633	4	MAP3K4	6	161470927	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	11771056	161470927	9644140	44	30809											
MAP3K4	4216	broad.mit.edu;hgsc.bcm.edu	37	6	161507426	161507427	+	Missense_Mutation	DNP	GA	GA	AT	rs567053708		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:161507426_161507427GA>AT	ENST00000392142.4	+	8	2536_2537	c.2388_2389GA>AT	c.(2386-2391)gaGAtc>gaATtc	p.I797F	MAP3K4_ENST00000366920.2_Missense_Mutation_p.I797F|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I797F|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I797F	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	797					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.E796>?(2)|p.E796E(2)|p.I797F(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CTGTTATAGAGATCAGTCGAGC	0.441																																																6	Substitution - Missense(2)|Substitution - coding silent(2)|Complex(2)	kidney(6)																																								SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	Exception_encountered	6.37:g.161507426_161507427delinsAT	ENSP00000375986:p.Ile797Phe		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent|Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																				0.441	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			AT	161507427	GA	AT	161507426	3	1	568	1	0	0	0	0	1	0	0	0	9254	933	33	2	2418	2	MAP3K4	6	161507426	Missense_Mutation	DNP	GA	TCGA-CW-6093-01A-11D-1669-08	36499	161507426	9607641	45	30810											
SDK1	221935	broad.mit.edu;ucsc.edu	37	7	4198097	4198097	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:4198097C>A	ENST00000404826.2	+	31	4782	c.4643C>A	c.(4642-4644)tCc>tAc	p.S1548Y	SDK1_ENST00000389531.3_Missense_Mutation_p.S1548Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1548	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S1548Y(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCTTCACCTCCTACAAGCTG	0.612																																																1	Substitution - Missense(1)	kidney(1)											97	83	88					7																	4198097		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4643C>A	7.37:g.4198097C>A	ENSP00000385899:p.Ser1548Tyr		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012880	0.75161	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58210	0.35;0.35	5.02	5.02	0.67125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.69753	0.3146	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.999	D;D;D	0.79784	0.993;0.928;0.987	T	0.65356	-0.6188	10	0.13108	T	0.6	.	18.3471	0.90326	0.0:1.0:0.0:0.0	.	1548;35;1548	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	Y	1548	ENSP00000385899:S1548Y;ENSP00000374182:S1548Y	ENSP00000374182:S1548Y	S	+	2	0	SDK1	4164623	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.720000	0.84759	2.339000	0.79563	0.563000	0.77884	TCC		0.612	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		A	4198097	C	A	4198097	3	1	568	1	0	0	0	0	1	0	0	0	13974	855	30	4	4765	4	SDK1	7	4198097	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08		4198097	154940566	46	30811											
PODXL	5420	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	131191353	131191353	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:131191353C>G	ENST00000378555.3	-	6	1481	c.1234G>C	c.(1234-1236)Gaa>Caa	p.E412Q	PODXL_ENST00000322985.9_Missense_Mutation_p.E380Q|PODXL_ENST00000537928.1_Missense_Mutation_p.E380Q|PODXL_ENST00000541194.1_Missense_Mutation_p.E414Q			O00592	PODXL_HUMAN	podocalyxin-like	412					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.E412Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATAGTGATTTCTTTGACGACC	0.582											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											112	111	111					7																	131191353		2203	4300	6503	SO:0001583	missense	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1234G>C	7.37:g.131191353C>G	ENSP00000367817:p.Glu412Gln	1585	A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910900	0.33721	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.51	-1.15	0.09709	.	0.933571	0.08930	N	0.873146	T	0.10380	0.0254	N	0.16478	0.41	0.09310	N	1	P;P	0.38551	0.582;0.636	B;B	0.35813	0.134;0.211	T	0.25676	-1.0125	10	0.33940	T	0.23	-4.8581	4.7852	0.13222	0.0:0.3721:0.3311:0.2969	.	380;412	O00592-2;O00592	.;PODXL_HUMAN	Q	414;380;370;412;380	ENSP00000440518:E414Q;ENSP00000442655:E380Q;ENSP00000367817:E412Q;ENSP00000319782:E380Q	ENSP00000319782:E380Q	E	-	1	0	PODXL	130841893	0.031000	0.19500	0.005000	0.12908	0.092000	0.18411	-0.274000	0.08537	-0.123000	0.11745	0.561000	0.74099	GAA		0.582	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		G	131191353	C	G	131191353	3	3	568	1	0	0	0	0	1	0	0	0	12182	922	32	4	458	4	PODXL	7	131191353	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	126993256	131191353	27947310	47	30812											
DENND2A	27147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	140301525	140301525	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:140301525T>C	ENST00000275884.6	-	2	1090	c.673A>G	c.(673-675)Agg>Ggg	p.R225G	DENND2A_ENST00000492720.1_Missense_Mutation_p.R225G|DENND2A_ENST00000537639.1_Missense_Mutation_p.R225G|DENND2A_ENST00000496613.1_Missense_Mutation_p.R225G			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	225					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R225G(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTGGGCTCCCTGCCTTCCAGG	0.637																																																1	Substitution - Missense(1)	kidney(1)											86	88	87					7																	140301525		1910	4122	6032	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.673A>G	7.37:g.140301525T>C	ENSP00000275884:p.Arg225Gly		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	1.502	-0.551892	0.03996	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10005	3.63;3.63;3.63;2.92	4.74	0.919	0.19392	.	1.845140	0.02832	N	0.126883	T	0.06962	0.0177	N	0.08118	0	0.09310	N	1	B;B	0.28055	0.199;0.008	B;B	0.27076	0.076;0.017	T	0.35699	-0.9778	10	0.37606	T	0.19	-7.7613	7.688	0.28550	0.0:0.079:0.4744:0.4466	.	225;225	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	G	225	ENSP00000275884:R225G;ENSP00000442245:R225G;ENSP00000419654:R225G;ENSP00000419464:R225G	ENSP00000275884:R225G	R	-	1	2	DENND2A	139947994	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	-0.108000	0.10857	-0.001000	0.14495	0.379000	0.24179	AGG		0.637	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		C	140301525	T	C	140301525	3	2	568	1	0	0	0	0	1	0	0	0	4431	1579	55	3	2428	3	DENND2A	7	140301525	Missense_Mutation	SNP	T	TCGA-CW-6093-01A-11D-1669-08	9110172	140301525	18837138	48	30813											
ZYX	7791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	143079761	143079761	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:143079761G>A	ENST00000322764.5	+	4	829	c.484G>A	c.(484-486)Gat>Aat	p.D162N	ZYX_ENST00000477373.1_Intron|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000449423.2_Intron|ZYX_ENST00000392910.2_Missense_Mutation_p.D5N	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	162					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D162N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GACCAAGAATGATCCTTTCAA	0.542																																																1	Substitution - Missense(1)	kidney(1)											169	165	167					7																	143079761		2203	4300	6503	SO:0001583	missense	7791			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.484G>A	7.37:g.143079761G>A	ENSP00000324422:p.Asp162Asn		A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414426	0.83449	.	.	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000457235;ENST00000392910	T;T;T	0.58358	0.6;0.48;0.34	3.56	3.56	0.40772	.	0.384023	0.22666	N	0.057135	T	0.64724	0.2624	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.61826	-0.6983	10	0.18710	T	0.47	.	13.5065	0.61486	0.0:0.0:1.0:0.0	.	162	Q15942	ZYX_HUMAN	N	162;131;162;5	ENSP00000324422:D162N;ENSP00000413467:D131N;ENSP00000376642:D5N	ENSP00000324422:D162N	D	+	1	0	ZYX	142789883	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.410000	0.59774	1.810000	0.52873	0.561000	0.74099	GAT		0.542	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		A	143079761	G	A	143079761	3	1	568	1	0	0	0	0	1	0	0	0	18259	1290	45	2	494	2	ZYX	7	143079761	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	2778236	143079761	16058902	49	30814											
GIMAP8	155038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150174244	150174244	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:150174244C>T	ENST00000307271.3	+	5	1948	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	458	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.I458I(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGAACTCTATCCTGGGGAGCC	0.592																																																1	Substitution - coding silent(1)	kidney(1)											71	74	73					7																	150174244		2203	4300	6503	SO:0001819	synonymous_variant	155038			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1374C>T	7.37:g.150174244C>T				Silent	SNP	ENST00000307271.3	37	CCDS34777.1																																																																																				0.592	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		T	150174244	C	T	150174244	2	4	568	1	0	0	0	0	0	0	0	1	6387	845	30	2		2	GIMAP8	7	150174244	Silent	SNP	C	TCGA-CW-6093-01A-11D-1669-08	7094483	150174244	8964419	50	30815											
NOM1	64434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	156752790	156752790	+	Silent	SNP	T	T	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:156752790T>G	ENST00000275820.3	+	4	1569	c.1554T>G	c.(1552-1554)gcT>gcG	p.A518A	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	518	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A518A(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAGATGATGCTTTATCACTTA	0.438																																																1	Substitution - coding silent(1)	kidney(1)											80	83	82					7																	156752790		2203	4300	6503	SO:0001819	synonymous_variant	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1554T>G	7.37:g.156752790T>G			Q96I08	Silent	SNP	ENST00000275820.3	37	CCDS34787.1																																																																																				0.438	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		G	156752790	T	G	156752790	2	3	568	1	0	0	0	0	0	0	0	1	10532	1596	56	5		5	NOM1	7	156752790	Silent	SNP	T	TCGA-CW-6093-01A-11D-1669-08	6578546	156752790	2385873	51	30816											
PLEKHA2	59339	broad.mit.edu	37	8	38827144	38827144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr8:38827144C>A	ENST00000420274.1	+	12	1355	c.1121C>A	c.(1120-1122)tCa>tAa	p.S374*	PLEKHA2_ENST00000388745.4_3'UTR|CTD-2544N14.3_ENST00000520863.1_RNA|PLEKHA2_ENST00000521746.1_Intron	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	374					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)	p.S374*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GGAGACACTTCAGAGGACTCC	0.652																																																1	Substitution - Nonsense(1)	kidney(1)											18	22	21					8																	38827144		1903	4111	6014	SO:0001587	stop_gained	59339			AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"Pleckstrin homology (PH) domain containing"	14336	protein-coding gene	gene with protein product	"tandem PH Domain containing protein-2"	607773	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000420274.1:c.1121C>A	8.37:g.38827144C>A	ENSP00000393860:p.Ser374*			Nonsense_Mutation	SNP	ENST00000420274.1	37		.	.	.	.	.	.	.	.	.	.	C	22.0	4.225039	0.79576	.	.	ENSG00000169499	ENST00000420274;ENST00000535929	.	.	.	5.81	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	10.6229	0.45491	0.0:0.7915:0.0:0.2085	.	.	.	.	X	374;324	.	ENSP00000393860:S374X	S	+	2	0	PLEKHA2	38946301	0.000000	0.05858	0.034000	0.17996	0.033000	0.12548	0.651000	0.24873	0.379000	0.24794	0.655000	0.94253	TCA		0.652	PLEKHA2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021623		A	38827144	C	A	38827144	4	1	568	1	0	0	0	0	0	1	0	0	12058	838	29	4	1163	4	PLEKHA2	8	38827144	Nonsense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08		38827144	107536878	52	30817											
SNAI2	6591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	49832751	49832751	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr8:49832751T>A	ENST00000396822.1	-	3	686	c.329A>T	c.(328-330)gAg>gTg	p.E110V	SNAI2_ENST00000020945.1_Missense_Mutation_p.E110V			O43623	SNAI2_HUMAN	snail family zinc finger 2	110					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.E110V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TAGTCTTTCCTCTTCATCACT	0.488																																																1	Substitution - Missense(1)	kidney(1)											156	150	152					8																	49832751		2203	4300	6503	SO:0001583	missense	6591			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.329A>T	8.37:g.49832751T>A	ENSP00000380034:p.Glu110Val		B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.694229	0.48202	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.12672	2.66;2.66	5.38	5.38	0.77491	.	0.042935	0.85682	D	0.000000	T	0.08670	0.0215	N	0.24115	0.695	0.80722	D	1	P	0.34462	0.454	B	0.23275	0.045	T	0.31475	-0.9942	10	0.16896	T	0.51	-19.4374	15.3762	0.74607	0.0:0.0:0.0:1.0	.	110	O43623	SNAI2_HUMAN	V	110	ENSP00000020945:E110V;ENSP00000380034:E110V	ENSP00000020945:E110V	E	-	2	0	SNAI2	49995304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.503000	0.81632	2.034000	0.60081	0.459000	0.35465	GAG		0.488	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		A	49832751	T	A	49832751	3	1	568	1	0	0	0	0	1	0	0	0	14833	1551	54	5	485	5	SNAI2	8	49832751	Missense_Mutation	SNP	T	TCGA-CW-6093-01A-11D-1669-08	11005607	49832751	96531271	53	30818											
NAPRT1	642475	hgsc.bcm.edu;ucsc.edu	37	8	144657613	144657613	+	5'Flank	DEL	A	A	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr8:144657613delA	ENST00000398882.3	-	0	0				NAPRT1_ENST00000449291.2_Frame_Shift_Del_p.F424fs|NAPRT1_ENST00000435154.3_Frame_Shift_Del_p.F424fs|NAPRT1_ENST00000276844.7_Frame_Shift_Del_p.F424fs|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Frame_Shift_Del_p.F424fs	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		CAGGAGCCGGAAAGCAGCCTT	0.657																																																0													56	64	61					8																	144657613		2202	4299	6501	SO:0001631	upstream_gene_variant	93100			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		8.37:g.144657613delA	Exception_encountered		A8MWB1	Frame_Shift_Del	DEL	ENST00000398882.3	37	CCDS47928.1																																																																																				0.657	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		-	144657613	A	-	144657613	6	5	568	0	1	1	0	1	0	0	0	0	10167	246	9	0		0	NAPRT1	8	144657613	5'Flank	DEL	A	TCGA-CW-6093-01A-11D-1669-08	94824862	144657613	1706409	54	30819											
FAM166B	730112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35562911	35562911	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr9:35562911C>A	ENST00000399742.2	-	3	523	c.453G>T	c.(451-453)gaG>gaT	p.E151D	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	151								p.E151D(2)		kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CCAGCTGCCCCTCCGGCTCTG	0.567																																																2	Substitution - Missense(2)	kidney(2)											62	65	64					9																	35562911		2073	4206	6279	SO:0001583	missense	730112			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.453G>T	9.37:g.35562911C>A	ENSP00000382646:p.Glu151Asp		A1L3B2|B7ZBJ0	Missense_Mutation	SNP	ENST00000399742.2	37	CCDS56572.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252443	0.39797	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.33	1.98	0.26296	.	2137.310000	0.00447	U	0.000095	T	0.49167	0.1541	M	0.70595	2.14	0.09310	N	1	P;P;B;P	0.49559	0.877;0.877;0.013;0.925	B;B;B;P	0.47162	0.339;0.339;0.005;0.54	T	0.30621	-0.9972	9	0.16896	T	0.51	-7.7567	7.6682	0.28443	0.0:0.6843:0.0:0.3157	.	151;151;151;151	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	D	151	.	ENSP00000382646:E151D	E	-	3	2	FAM166B	35552911	0.005000	0.15991	0.042000	0.18584	0.013000	0.08279	1.818000	0.39012	0.618000	0.30179	0.563000	0.77884	GAG		0.567	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		A	35562911	C	A	35562911	3	1	568	1	0	0	0	0	1	0	0	0	5484	680	24	4	209	4	FAM166B	9	35562911	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08		35562911	105650520	55	30820											
POLR1E	64425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	37500907	37500907	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr9:37500907C>T	ENST00000377798.4	+	10	1070	c.957C>T	c.(955-957)taC>taT	p.Y319Y	POLR1E_ENST00000442009.2_Silent_p.Y249Y|POLR1E_ENST00000377792.3_Silent_p.Y381Y	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.Y319Y(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		GCTTGACCTACAACAATGGCA	0.493																																					Ovarian(116;843 1620 18506 32459 34463)											1	Substitution - coding silent(1)	kidney(1)											111	95	101					9																	37500907		2203	4300	6503	SO:0001819	synonymous_variant	64425			AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"RNA polymerase subunits"	17631	protein-coding gene	gene with protein product	"RNA polymerase I associated factor 53"		"polymerase (RNA) I associated factor 1"	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.957C>T	9.37:g.37500907C>T			O75395|Q5JTE3	Silent	SNP	ENST00000377798.4	37	CCDS6611.1																																																																																				0.493	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490		T	37500907	C	T	37500907	2	4	568	1	0	0	0	0	0	0	0	1	12215	489	17	2		2	POLR1E	9	37500907	Silent	SNP	C	TCGA-CW-6093-01A-11D-1669-08	1937996	37500907	103712524	56	30821											
SLC44A1	23446	hgsc.bcm.edu;ucsc.edu	37	9	108127774	108127774	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr9:108127774delA	ENST00000374720.3	+	11	1511	c.1264delA	c.(1264-1266)aatfs	p.N422fs	SLC44A1_ENST00000374723.1_Frame_Shift_Del_p.N422fs|SLC44A1_ENST00000374724.1_Frame_Shift_Del_p.N422fs|SLC44A1_ENST00000343170.7_Frame_Shift_Del_p.N214fs	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	422					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GGATAAAAGGAATTTGCCATT	0.358																																																0													80	80	80					9																	108127774		2203	4300	6503	SO:0001589	frameshift_variant	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1264delA	9.37:g.108127774delA	ENSP00000363852:p.Asn422fs		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Frame_Shift_Del	DEL	ENST00000374720.3	37	CCDS6763.1																																																																																				0.358	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		-	108127774	A	-	108127774	7	5	568	1	0	1	0	1	0	0	0	0	14641	246	9	0	1306	0	SLC44A1	9	108127774	Frame_Shift_Del	DEL	A	TCGA-CW-6093-01A-11D-1669-08	70626867	108127774	33085657	57	30822											
DENND1A	57706	broad.mit.edu	37	9	126144388	126144388	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr9:126144388G>A	ENST00000373624.2	-	22	2554	c.2353C>T	c.(2353-2355)Ctc>Ttc	p.L785F	DENND1A_ENST00000542603.1_Missense_Mutation_p.L570F|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.L796F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	785	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L785F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGGTCCAGGAGGGCGAGCAGG	0.697																																																1	Substitution - Missense(1)	kidney(1)											10	14	13					9																	126144388		2187	4275	6462	SO:0001583	missense	57706			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2353C>T	9.37:g.126144388G>A	ENSP00000362727:p.Leu785Phe		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130965	0.37630	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.31769	2.88;1.48;2.79	4.47	4.47	0.54385	.	0.328666	0.26035	N	0.026737	T	0.47192	0.1432	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.994;0.973	T	0.51284	-0.8725	10	0.72032	D	0.01	-19.5457	17.1691	0.86824	0.0:0.0:1.0:0.0	.	796;786;785;648	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	F	785;570;796	ENSP00000362727:L785F;ENSP00000437457:L570F;ENSP00000377766:L796F	ENSP00000362727:L785F	L	-	1	0	DENND1A	125184209	1.000000	0.71417	0.983000	0.44433	0.006000	0.05464	4.964000	0.63701	2.029000	0.59856	0.557000	0.71058	CTC		0.697	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		A	126144388	G	A	126144388	3	1	568	1	0	0	0	0	1	0	0	0	4428	1000	35	2	680	2	DENND1A	9	126144388	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	18016614	126144388	15069043	58	30823											
EXD3	54932	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140249170	140249170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr9:140249170G>T	ENST00000340951.4	-	9	1008	c.813C>A	c.(811-813)tgC>tgA	p.C271*	EXD3_ENST00000342129.4_5'UTR	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0								p.C271*(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						ACCGCTTGTGGCACAGGTGCC	0.667																																																2	Substitution - Nonsense(2)	kidney(2)											28	37	34					9																	140249170		2000	4143	6143	SO:0001587	stop_gained	54932				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.813C>A	9.37:g.140249170G>T	ENSP00000340474:p.Cys271*		Q6P1M1|Q8IXT8	Nonsense_Mutation	SNP	ENST00000340951.4	37	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779399	0.90195	.	.	ENSG00000187609	ENST00000340951	.	.	.	1.89	1.89	0.25635	.	0.461205	0.20704	U	0.087204	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	6.3322	0.21276	0.0:0.3148:0.6851:0.0	.	.	.	.	X	271	.	ENSP00000340474:C271X	C	-	3	2	EXD3	139368991	0.332000	0.24722	0.229000	0.23960	0.012000	0.07955	0.426000	0.21363	1.355000	0.45865	0.462000	0.41574	TGC		0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		T	140249170	G	T	140249170	4	4	568	1	0	0	0	0	0	1	0	0	5301	1195	42	4	1873	4	EXD3	9	140249170	Nonsense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	14104782	140249170	964261	59	30824											
KIAA1217	56243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	24669919	24669919	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr10:24669919C>T	ENST00000376454.3	+	3	506	c.476C>T	c.(475-477)cCt>cTt	p.P159L	KIAA1217_ENST00000376452.3_Missense_Mutation_p.P159L|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P80L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P79L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P159L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.P159L(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCTCCAACCCCTTTTTCCAGA	0.542																																																1	Substitution - Missense(1)	kidney(1)											62	64	63					10																	24669919		2203	4300	6503	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.476C>T	10.37:g.24669919C>T	ENSP00000365637:p.Pro159Leu		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314615	0.81358	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.54	5.54	0.83059	.	0.222398	0.46758	D	0.000278	T	0.78336	0.4267	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.985;1.0;0.993	D;P;D;P	0.91635	0.999;0.786;0.999;0.89	T	0.78257	-0.2274	10	0.54805	T	0.06	.	19.4705	0.94961	0.0:1.0:0.0:0.0	.	159;159;159;159	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	L	79;159;159;159;159;9;80	ENSP00000365645:P79L;ENSP00000365639:P159L;ENSP00000392625:P159L;ENSP00000365637:P159L;ENSP00000365635:P159L;ENSP00000404798:P9L;ENSP00000389680:P80L	ENSP00000365635:P159L	P	+	2	0	KIAA1217	24709925	0.999000	0.42202	0.901000	0.35422	0.777000	0.43975	4.673000	0.61604	2.616000	0.88540	0.591000	0.81541	CCT		0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		T	24669919	C	T	24669919	3	4	568	1	0	0	0	0	1	0	0	0	8218	681	24	2	486	2	KIAA1217	10	24669919	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08		24669919	110864828	60	30825											
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	62039296	62039296	+	Splice_Site	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr10:62039296C>G	ENST00000280772.2	-	2	407	c.216G>C	c.(214-216)caG>caC	p.Q72H	ANK3_ENST00000503366.1_Splice_Site_p.Q55H|ANK3_ENST00000373827.2_Splice_Site_p.Q66H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	72					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q72H(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCAGCTAACCTGATTGCAAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											112	125	120					10																	62039296		2203	4300	6503	SO:0001630	splice_region_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.216+1G>C	10.37:g.62039296C>G			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.991182	0.54041	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.22	3.39	0.38822	Ankyrin repeat-containing domain (3);	0.000000	0.40064	N	0.001198	T	0.63546	0.2520	N	0.25094	0.71	0.80722	D	1	P;D;D	0.89917	0.826;1.0;0.999	P;D;D	0.97110	0.524;1.0;0.998	T	0.59418	-0.7458	9	.	.	.	.	10.3049	0.43674	0.1356:0.7947:0.0:0.0697	.	55;66;72	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	H	72;66;55;34;46	ENSP00000280772:Q72H;ENSP00000362933:Q66H;ENSP00000425236:Q55H;ENSP00000426011:Q46H	.	Q	-	3	2	ANK3	61709302	1.000000	0.71417	0.999000	0.59377	0.424000	0.31475	3.894000	0.56250	0.797000	0.33971	-0.127000	0.14921	CAG		0.363	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	Missense_Mutation	G	62039296	C	G	62039296	5	3	568	1	0	0	0	0	0	0	1	0	622	695	24	4	13418	4	ANK3	10	62039296	Splice_Site	SNP	C	TCGA-CW-6093-01A-11D-1669-08	37369377	62039296	73495451	61	30826											
AP3M1	26985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75884279	75884279	+	Silent	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr10:75884279G>A	ENST00000355264.4	-	8	1326	c.1015C>T	c.(1015-1017)Cta>Tta	p.L339L	AP3M1_ENST00000372745.1_Silent_p.L339L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	339	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)	p.L339L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TCCCATGTTAGTACCTTAAAA	0.348																																																1	Substitution - coding silent(1)	kidney(1)											50	48	49					10																	75884279		2203	4300	6503	SO:0001819	synonymous_variant	26985			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.1015C>T	10.37:g.75884279G>A			Q5JQ12|Q9H5L2	Silent	SNP	ENST00000355264.4	37	CCDS7342.1																																																																																				0.348	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			A	75884279	G	A	75884279	2	1	568	1	0	0	0	0	0	0	0	1	747	1020	36	2		2	AP3M1	10	75884279	Silent	SNP	G	TCGA-CW-6093-01A-11D-1669-08	13844983	75884279	59650468	62	30827											
ZFYVE27	118813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99509236	99509236	+	Missense_Mutation	SNP	A	A	G	rs575306476		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr10:99509236A>G	ENST00000393677.4	+	6	761	c.557A>G	c.(556-558)tAt>tGt	p.Y186C	ZFYVE27_ENST00000357540.4_Missense_Mutation_p.Y100C|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.Y68C|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.Y88C|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.Y186C|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.Y186C|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.Y186C|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.Y154C	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	186					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)	p.Y186C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TCCAGGTTCTATGGGGCTCTT	0.522													A|||	1	0.000199681	0.0	0.0	5008	,	,		19863	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											132	109	117					10																	99509236		2203	4300	6503	SO:0001583	missense	118813			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.557A>G	10.37:g.99509236A>G	ENSP00000377282:p.Tyr186Cys		B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833545	0.71258	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T;T	0.59364	0.28;0.27;1.04;1.0;1.03;1.03;1.06	5.79	5.79	0.91817	.	0.054757	0.85682	D	0.000000	T	0.67107	0.2858	L	0.32530	0.975	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.99;0.987;0.969;0.994;0.994;0.997;0.986	T	0.70447	-0.4869	10	0.87932	D	0	-14.5126	14.7033	0.69171	1.0:0.0:0.0:0.0	.	154;88;68;100;186;186;186	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	C	154;100;68;88;186;186;186;186;164	ENSP00000337993:Y154C;ENSP00000359642:Y88C;ENSP00000377282:Y186C;ENSP00000401580:Y186C;ENSP00000353069:Y186C;ENSP00000348593:Y186C;ENSP00000409594:Y164C	ENSP00000337993:Y154C	Y	+	2	0	ZFYVE27	99499226	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	6.348000	0.73009	2.223000	0.72356	0.454000	0.30748	TAT		0.522	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		G	99509236	A	G	99509236	3	3	568	1	0	0	0	0	1	0	0	0	17674	449	16	3	575	3	ZFYVE27	10	99509236	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	23624957	99509236	36025511	63	30828											
SORCS3	22986	broad.mit.edu;ucsc.edu	37	10	107016626	107016626	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr10:107016626G>A	ENST00000369701.3	+	25	3614	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1129					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.M1129I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCATGCTTATGCTATTATCAG	0.433																																					NSCLC(116;1497 1690 7108 13108 14106)											1	Substitution - Missense(1)	kidney(1)											174	148	157					10																	107016626		2203	4300	6503	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3387G>A	10.37:g.107016626G>A	ENSP00000358715:p.Met1129Ile		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834318	0.91036	.	.	ENSG00000156395	ENST00000369701	T	0.14640	2.49	5.93	5.93	0.95920	.	0.040077	0.85682	D	0.000000	T	0.13884	0.0336	L	0.32530	0.975	0.80722	D	1	P	0.47841	0.901	B	0.40066	0.318	T	0.02484	-1.1152	9	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1129	Q9UPU3	SORC3_HUMAN	I	1129	ENSP00000358715:M1129I	.	M	+	3	0	SORCS3	107006616	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.359000	0.97115	2.826000	0.97356	0.655000	0.94253	ATG		0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		A	107016626	G	A	107016626	3	1	568	1	0	0	0	0	1	0	0	0	14938	1319	46	2	3485	2	SORCS3	10	107016626	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	7507390	107016626	28518121	64	30829											
PIK3C2A	5286	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	17118795	17118795	+	Silent	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:17118795A>G	ENST00000265970.7	-	26	4134	c.4135T>C	c.(4135-4137)Ttg>Ctg	p.L1379L	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Silent_p.L999L	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1379	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.L1379L(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ATGCTTCCCAAACTTGATTCA	0.338																																																1	Substitution - coding silent(1)	kidney(1)											82	78	79					11																	17118795		2200	4293	6493	SO:0001819	synonymous_variant	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4135T>C	11.37:g.17118795A>G			B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	CCDS7824.1																																																																																				0.338	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		G	17118795	A	G	17118795	2	3	568	1	0	0	0	0	0	0	0	1	11911	11	1	3		3	PIK3C2A	11	17118795	Silent	SNP	A	TCGA-CW-6093-01A-11D-1669-08		17118795	117887721	65	30830											
HPS5	11234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18314494	18314494	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:18314494G>T	ENST00000349215.3	-	15	2091	c.1814C>A	c.(1813-1815)cCa>cAa	p.P605Q	HPS5_ENST00000438420.2_Missense_Mutation_p.P491Q|HPS5_ENST00000352460.3_Intron|HPS5_ENST00000396253.3_Missense_Mutation_p.P491Q	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	605					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.P605Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTCTTCTTCTGGAGGTGGACT	0.393									Hermansky-Pudlak syndrome																																							1	Substitution - Missense(1)	kidney(1)											184	163	170					11																	18314494		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1814C>A	11.37:g.18314494G>T	ENSP00000265967:p.Pro605Gln		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	9.662	1.144415	0.21205	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.76968	-1.06;-1.06;-1.06	5.29	2.42	0.29668	.	0.663946	0.14702	N	0.303507	T	0.71204	0.3312	L	0.54323	1.7	0.09310	N	0.999998	P	0.50943	0.94	P	0.45071	0.468	T	0.59306	-0.7479	10	0.33141	T	0.24	.	5.6635	0.17682	0.2297:0.1411:0.6292:0.0	.	605	Q9UPZ3	HPS5_HUMAN	Q	491;491;605	ENSP00000379552:P491Q;ENSP00000399590:P491Q;ENSP00000265967:P605Q	ENSP00000265967:P605Q	P	-	2	0	HPS5	18271070	0.998000	0.40836	0.138000	0.22173	0.039000	0.13416	0.994000	0.29693	0.336000	0.23639	-0.140000	0.14226	CCA		0.393	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		T	18314494	G	T	18314494	3	4	568	1	0	0	0	0	1	0	0	0	7344	1348	47	4	1611	4	HPS5	11	18314494	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	1195699	18314494	116692022	66	30831											
AMBRA1	55626	hgsc.bcm.edu;ucsc.edu	37	11	46439573	46439574	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:46439573_46439574delAG	ENST00000458649.2	-	15	3423_3424	c.3005_3006delCT	c.(3004-3006)cctfs	p.P1002fs	AMBRA1_ENST00000528950.1_Frame_Shift_Del_p.P973fs|AMBRA1_ENST00000298834.3_Frame_Shift_Del_p.P942fs|AMBRA1_ENST00000314845.3_Frame_Shift_Del_p.P912fs|AMBRA1_ENST00000426438.1_Frame_Shift_Del_p.P973fs|AMBRA1_ENST00000533727.1_Frame_Shift_Del_p.P883fs|AMBRA1_ENST00000534300.1_Frame_Shift_Del_p.P942fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1002					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCTGGTCGGCAGGCATGGGATA	0.475																																																0																																										SO:0001589	frameshift_variant	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3005_3006delCT	11.37:g.46439573_46439574delAG	ENSP00000415327:p.Pro1002fs		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Del	DEL	ENST00000458649.2	37																																																																																					0.475	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		-	46439574	AG	-	46439573	7	5	568	1	0	1	0	1	0	0	0	0	565	175	7	0	906	0	AMBRA1	11	46439573	Frame_Shift_Del	DEL	AG	TCGA-CW-6093-01A-11D-1669-08	28125079	46439573	88566943	67	30832											
SPRYD5	84767	broad.mit.edu	37	11	55653105	55653105	+	Missense_Mutation	SNP	C	C	A	rs540493221		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:55653105C>A	ENST00000449290.2	+	2	293	c.201C>A	c.(199-201)gaC>gaA	p.D67E	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	67						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D67E(1)									TCAACACTGACATTTGTTTGA	0.488																																																1	Substitution - Missense(1)	kidney(1)											35	30	31					11																	55653105		692	1591	2283	SO:0001583	missense	0			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.201C>A	11.37:g.55653105C>A	ENSP00000395086:p.Asp67Glu		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	7.296	0.612045	0.14066	.	.	ENSG00000124900	ENST00000449290	D	0.84370	-1.84	0.803	-0.478	0.12093	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.67211	0.2869	N	0.08118	0	0.09310	N	0.999999	B	0.18968	0.032	B	0.19946	0.027	T	0.57015	-0.7883	9	0.87932	D	0	.	3.8204	0.08833	0.0:0.4305:0.0:0.5695	.	67	Q9BSJ1	SPRY5_HUMAN	E	67	ENSP00000395086:D67E	ENSP00000395086:D67E	D	+	3	2	SPRYD5	55409681	0.112000	0.22096	0.001000	0.08648	0.010000	0.07245	0.448000	0.21726	-0.107000	0.12088	0.152000	0.16155	GAC		0.488	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		A	55653105	C	A	55653105	3	1	568	1	0	0	0	0	1	0	0	0	15116	477	17	4	203	4	SPRYD5	11	55653105	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	9213532	55653105	79353411	68	30833											
SPRYD5	84767	broad.mit.edu;hgsc.bcm.edu	37	11	55658689	55658689	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:55658689G>T	ENST00000449290.2	+	7	1032	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	TRIM51_ENST00000244891.3_Missense_Mutation_p.D171Y	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	314	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D314Y(1)|p.D155Y(1)									TGTTGGATGTGACCCTCAAGA	0.388																																																2	Substitution - Missense(2)	kidney(2)											93	101	98					11																	55658689		2067	3944	6011	SO:0001583	missense	0			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.940G>T	11.37:g.55658689G>T	ENSP00000395086:p.Asp314Tyr		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	9.026	0.985972	0.18889	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.09445	2.98;2.98	1.17	-0.818	0.10833	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.12433	0.0302	L	0.53249	1.67	0.21652	N	0.999608	P	0.41265	0.744	P	0.45449	0.481	T	0.23940	-1.0174	9	0.51188	T	0.08	.	4.2288	0.10592	0.0:0.4429:0.5571:0.0	.	314	Q9BSJ1	SPRY5_HUMAN	Y	314;171	ENSP00000395086:D314Y;ENSP00000244891:D171Y	ENSP00000244891:D171Y	D	+	1	0	SPRYD5	55415265	0.016000	0.18221	0.147000	0.22382	0.373000	0.29922	0.227000	0.17795	0.500000	0.27991	0.162000	0.16502	GAC		0.388	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		T	55658689	G	T	55658689	3	4	568	1	0	0	0	0	1	0	0	0	15116	1290	45	4	962	4	SPRYD5	11	55658689	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	5584	55658689	79347827	69	30834											
CYBASC3	220002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61120499	61120499	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:61120499G>A	ENST00000294072.4	-	5	1183	c.506C>T	c.(505-507)gCa>gTa	p.A169V	CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A169V|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A169V|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000426130.2_Missense_Mutation_p.A186V	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	169	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.A169V(1)|p.A186V(1)									AATGACGGATGCGATGGACAG	0.517																																																2	Substitution - Missense(2)	kidney(2)											72	68	69					11																	61120499		2203	4299	6502	SO:0001583	missense	220002			AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"Cytochrome b genes"	23014	protein-coding gene	gene with protein product			"cytochrome b, ascorbate dependent 3"	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.506C>T	11.37:g.61120499G>A	ENSP00000294072:p.Ala169Val		B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	CCDS8004.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835301	0.50951	.	.	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000536915;ENST00000540139;ENST00000542361;ENST00000537364	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.88	5.88	0.94601	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.303927	0.36740	N	0.002439	T	0.42291	0.1196	L	0.46885	1.475	0.31848	N	0.622545	B;B;B	0.21688	0.058;0.059;0.018	B;B;B	0.26416	0.069;0.041;0.039	T	0.44559	-0.9320	10	0.40728	T	0.16	-12.2098	18.4211	0.90591	0.0:0.0:1.0:0.0	.	186;169;169	B4DLN9;F5H1Q2;Q8NBI2	.;.;CYAC3_HUMAN	V	186;169;169;169;81;169;169	ENSP00000398979:A186V;ENSP00000294072:A169V;ENSP00000389745:A169V;ENSP00000437390:A169V;ENSP00000441085:A81V;ENSP00000443321:A169V;ENSP00000438725:A169V	ENSP00000294072:A169V	A	-	2	0	CYBASC3	60877075	0.851000	0.29673	0.167000	0.22817	0.375000	0.29983	3.658000	0.54482	2.797000	0.96272	0.561000	0.74099	GCA		0.517	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611		A	61120499	G	A	61120499	3	1	568	1	0	0	0	0	1	0	0	0	4134	1319	46	2	234	2	CYBASC3	11	61120499	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	5461810	61120499	73886017	70	30835											
FERMT3	83706	hgsc.bcm.edu;ucsc.edu	37	11	63990606	63990607	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:63990606_63990607delAG	ENST00000279227.5	+	14	1864_1865	c.1769_1770delAG	c.(1768-1770)aagfs	p.K590fs	TRPT1_ENST00000540472.1_5'Flank|FERMT3_ENST00000345728.5_Frame_Shift_Del_p.K586fs	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	590					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GACGTGGTCAAGACCTGGCGTT	0.624																																																0																																										SO:0001589	frameshift_variant	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1769_1770delAG	11.37:g.63990606_63990607delAG	ENSP00000279227:p.Lys590fs		Q8IUA1|Q8N207|Q9BT48	Frame_Shift_Del	DEL	ENST00000279227.5	37	CCDS8060.1																																																																																				0.624	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		-	63990607	AG	-	63990606	7	5	568	1	0	1	0	1	0	0	0	0	5821	72	3	0	1819	0	FERMT3	11	63990606	Frame_Shift_Del	DEL	AG	TCGA-CW-6093-01A-11D-1669-08	2870107	63990606	71015910	71	30836											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92543049	92543049	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:92543049C>G	ENST00000298047.6	+	12	9305	c.9288C>G	c.(9286-9288)atC>atG	p.I3096M	FAT3_ENST00000525166.1_Missense_Mutation_p.I2946M|FAT3_ENST00000409404.2_Missense_Mutation_p.I3096M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3096	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I3096M(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGAGAGGATCCCCGTGTACA	0.507										TCGA Ovarian(4;0.039)																																						2	Substitution - Missense(2)	kidney(2)											75	74	74					11																	92543049		1867	4096	5963	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9288C>G	11.37:g.92543049C>G	ENSP00000298047:p.Ile3096Met		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	4.636	0.118160	0.08881	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01745	4.66;4.66;4.66	5.31	0.464	0.16706	.	.	.	.	.	T	0.01387	0.0045	N	0.26092	0.79	0.58432	D	0.999999	P	0.38250	0.624	B	0.33690	0.168	T	0.66081	-0.6012	9	0.46703	T	0.11	.	7.1497	0.25604	0.115:0.5887:0.2246:0.0717	.	3096	Q8TDW7-3	.	M	3096;3096;2946	ENSP00000298047:I3096M;ENSP00000387040:I3096M;ENSP00000432586:I2946M	ENSP00000298047:I3096M	I	+	3	3	FAT3	92182697	0.168000	0.22989	0.990000	0.47175	0.007000	0.05969	-0.354000	0.07681	0.183000	0.20059	-1.463000	0.01021	ATC		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92543049	C	G	92543049	3	3	568	1	0	0	0	0	1	0	0	0	5693	845	30	4	9334	4	FAT3	11	92543049	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	28552443	92543049	42463467	72	30837											
MRE11A	4361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94219122	94219122	+	Silent	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:94219122G>T	ENST00000323929.3	-	4	504	c.282C>A	c.(280-282)ctC>ctA	p.L94L	MRE11A_ENST00000407439.3_Silent_p.L97L|MRE11A_ENST00000393241.4_Silent_p.L94L|MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000323977.3_Silent_p.L94L|MRE11A_ENST00000540013.1_Silent_p.L94L	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	94					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.L94L(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ACTGATCACTGAGAATTTCAA	0.338								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																							2	Substitution - coding silent(2)	kidney(2)											92	88	90					11																	94219122		2201	4298	6499	SO:0001819	synonymous_variant	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.282C>A	11.37:g.94219122G>T			O43475	Silent	SNP	ENST00000323929.3	37	CCDS8299.1																																																																																				0.338	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		T	94219122	G	T	94219122	2	4	568	1	0	0	0	0	0	0	0	1	9761	1277	45	4		4	MRE11A	11	94219122	Silent	SNP	G	TCGA-CW-6093-01A-11D-1669-08	1676073	94219122	40787394	73	30838											
MMP10	4319	hgsc.bcm.edu;ucsc.edu	37	11	102650395	102650395	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:102650395delT	ENST00000279441.4	-	2	223	c.187delA	c.(187-189)atcfs	p.I63fs		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	63					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	ATTCCTTGGATTTTTTTAACA	0.423																																																0													94	82	86					11																	102650395		2203	4299	6502	SO:0001589	frameshift_variant	4319			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.187delA	11.37:g.102650395delT	ENSP00000279441:p.Ile63fs		B2R9X9|Q53HH9	Frame_Shift_Del	DEL	ENST00000279441.4	37	CCDS8321.1																																																																																				0.423	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			-	102650395	T	-	102650395	7	5	568	1	0	1	0	1	0	0	0	0	9651	1493	52	0	1279	0	MMP10	11	102650395	Frame_Shift_Del	DEL	T	TCGA-CW-6093-01A-11D-1669-08	8431273	102650395	32356121	74	30839											
TECTA	7007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	120980198	120980198	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:120980198C>T	ENST00000392793.1	+	4	748	c.477C>T	c.(475-477)agC>agT	p.S159S	TECTA_ENST00000264037.2_Silent_p.S159S			O75443	TECTA_HUMAN	tectorin alpha	159	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.S159S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGCAGCAGCACCACACCTG	0.428																																																1	Substitution - coding silent(1)	kidney(1)											90	89	90					11																	120980198		2203	4299	6502	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.477C>T	11.37:g.120980198C>T				Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.428	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		T	120980198	C	T	120980198	2	4	568	1	0	0	0	0	0	0	0	1	15752	709	25	2		2	TECTA	11	120980198	Silent	SNP	C	TCGA-CW-6093-01A-11D-1669-08	18329803	120980198	14026318	75	30840											
ZNF202	7753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123598248	123598248	+	Nonsense_Mutation	SNP	C	C	T	rs373316200		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:123598248C>T	ENST00000529691.1	-	6	1107	c.888G>A	c.(886-888)tgG>tgA	p.W296*	ZNF202_ENST00000336139.4_Nonsense_Mutation_p.W296*|ZNF202_ENST00000530393.1_Nonsense_Mutation_p.W296*			O95125	ZN202_HUMAN	zinc finger protein 202	296	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W296*(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TATCTGGGACCCAAGGCTCTT	0.483																																																1	Substitution - Nonsense(1)	kidney(1)											103	99	101					11																	123598248		2202	4299	6501	SO:0001587	stop_gained	7753			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.888G>A	11.37:g.123598248C>T	ENSP00000433881:p.Trp296*		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Nonsense_Mutation	SNP	ENST00000529691.1	37	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	38	6.645247	0.97730	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	.	.	.	4.86	3.95	0.45737	.	0.523086	0.16245	N	0.222995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.3015	10.6676	0.45739	0.0:0.9068:0.0:0.0932	.	.	.	.	X	296	.	ENSP00000337724:W296X	W	-	3	0	ZNF202	123103458	0.844000	0.29557	0.983000	0.44433	0.999000	0.98932	3.142000	0.50601	1.264000	0.44198	0.650000	0.86243	TGG		0.483	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		T	123598248	C	T	123598248	4	4	568	1	0	0	0	0	0	1	0	0	17768	624	22	2	1066	2	ZNF202	11	123598248	Nonsense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	2618050	123598248	11408268	76	30841											
OR8G5	219865	broad.mit.edu;hgsc.bcm.edu	37	11	124135620	124135620	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:124135620G>A	ENST00000524943.2	+	1	898	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		GCCATCATCTGTCAGCTCCAT	0.502																																					Ovarian(169;523 1969 8640 31295 51256)											0													105	104	104					11																	124135620		2106	4258	6364	SO:0001583	missense	219865			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.898G>A	11.37:g.124135620G>A	ENSP00000477014:p.Val300Ile		B2RND3|Q6IEU6	Missense_Mutation	SNP	ENST00000524943.2	37																																																																																					0.502	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198		A	124135620	G	A	124135620	3	1	568	1	0	0	0	0	1	0	0	0	11238	1377	48	2	900	2	OR8G5	11	124135620	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	537372	124135620	10870896	77	30842											
MANSC1	54682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	12483626	12483626	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:12483626A>C	ENST00000535902.1	-	4	1194	c.631T>G	c.(631-633)Tct>Gct	p.S211A	MANSC1_ENST00000396349.3_Missense_Mutation_p.S177A|MANSC1_ENST00000545735.1_Missense_Mutation_p.S130A			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	211						integral component of membrane (GO:0016021)		p.S211A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TCTTGATCAGAGGAAAATTGT	0.468																																																1	Substitution - Missense(1)	kidney(1)											90	94	93					12																	12483626		2203	4300	6503	SO:0001583	missense	54682			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.631T>G	12.37:g.12483626A>C	ENSP00000438205:p.Ser211Ala		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	A	9.519	1.107678	0.20714	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.24151	2.2;2.14;1.87	4.48	-1.47	0.08772	.	0.509796	0.14844	N	0.295075	T	0.15478	0.0373	L	0.32530	0.975	0.09310	N	1	B;B;B	0.17667	0.005;0.005;0.023	B;B;B	0.19666	0.004;0.004;0.026	T	0.18085	-1.0348	10	0.45353	T	0.12	-4.8657	4.8528	0.13545	0.3962:0.1714:0.4324:0.0	.	145;177;211	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	A	211;177;130;130	ENSP00000438205:S211A;ENSP00000379638:S177A;ENSP00000445303:S130A	ENSP00000347765:S130A	S	-	1	0	MANSC1	12374893	0.012000	0.17670	0.003000	0.11579	0.007000	0.05969	0.179000	0.16840	-0.251000	0.09542	0.402000	0.26972	TCT		0.468	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		C	12483626	A	C	12483626	3	2	568	1	0	0	0	0	1	0	0	0	9226	304	11	5	668	5	MANSC1	12	12483626	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08		12483626	121368269	78	30843											
FMNL3	91010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50050231	50050231	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:50050231C>T	ENST00000293590.5	-	9	1074	c.841G>A	c.(841-843)Gga>Aga	p.G281R	FMNL3_ENST00000335154.5_Missense_Mutation_p.G281R|FMNL3_ENST00000550488.1_Missense_Mutation_p.G281R|FMNL3_ENST00000352151.5_Missense_Mutation_p.G230R			Q8IVF7	FMNL3_HUMAN	formin-like 3	281	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.G281R(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCGTGACCTCCTCGCACCAAA	0.512																																																2	Substitution - Missense(2)	kidney(2)											78	80	79					12																	50050231		2053	4227	6280	SO:0001583	missense	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.841G>A	12.37:g.50050231C>T	ENSP00000293590:p.Gly281Arg		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	C	34	5.404328	0.96051	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94830	0.8330	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95157	0.8278	10	0.62326	D	0.03	.	18.4119	0.90554	0.0:1.0:0.0:0.0	.	230;281	Q8IVF7-2;Q8IVF7-3	.;.	R	281;281;230;281	ENSP00000335655:G281R;ENSP00000447479:G281R;ENSP00000344311:G230R;ENSP00000293590:G281R	ENSP00000293590:G281R	G	-	1	0	FMNL3	48336498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.732000	0.93576	0.655000	0.94253	GGA		0.512	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		T	50050231	C	T	50050231	3	4	568	1	0	0	0	0	1	0	0	0	5955	690	24	2	2314	2	FMNL3	12	50050231	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	37566605	50050231	83801664	79	30844											
OR6C2	341416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55846275	55846275	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:55846275A>G	ENST00000322678.1	+	1	278	c.278A>G	c.(277-279)aAt>aGt	p.N93S	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	93					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)	p.N93S(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ATTACCTACAATGCTTGTGCC	0.378																																																1	Substitution - Missense(1)	kidney(1)											147	147	147					12																	55846275		2203	4299	6502	SO:0001583	missense	341416			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.278A>G	12.37:g.55846275A>G	ENSP00000323606:p.Asn93Ser			Missense_Mutation	SNP	ENST00000322678.1	37	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.373624	0.24857	.	.	ENSG00000179695	ENST00000322678	T	0.01572	4.76	5.42	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.306880	0.28301	N	0.015846	T	0.01254	0.0041	N	0.17723	0.515	0.09310	N	1	B	0.21381	0.055	B	0.20384	0.029	T	0.48843	-0.8999	10	0.56958	D	0.05	.	1.1561	0.01796	0.5325:0.154:0.1653:0.1482	.	93	Q9NZP2	OR6C2_HUMAN	S	93	ENSP00000323606:N93S	ENSP00000323606:N93S	N	+	2	0	OR6C2	54132542	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-0.898000	0.04105	0.510000	0.28216	0.496000	0.49642	AAT		0.378	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		G	55846275	A	G	55846275	3	3	568	1	0	0	0	0	1	0	0	0	11193	101	4	3	280	3	OR6C2	12	55846275	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	5796044	55846275	78005620	80	30845											
C12orf56	115749	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	64671569	64671569	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:64671569T>C	ENST00000543942.2	-	9	1951	c.1325A>G	c.(1324-1326)aAt>aGt	p.N442S	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Missense_Mutation_p.N282S	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	442								p.N282S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TACCAAGAGATTAAATAGTGC	0.353																																																1	Substitution - Missense(1)	kidney(1)											46	44	45					12																	64671569		1798	4063	5861	SO:0001583	missense	115749				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1325A>G	12.37:g.64671569T>C	ENSP00000446101:p.Asn442Ser			Missense_Mutation	SNP	ENST00000543942.2	37		.	.	.	.	.	.	.	.	.	.	T	7.572	0.666867	0.14710	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	4.84	0.772	0.18510	.	0.393097	0.26923	N	0.021808	T	0.58864	0.2152	L	0.59436	1.845	0.28742	N	0.901924	B;D	0.71674	0.206;0.998	B;D	0.76071	0.124;0.987	T	0.53711	-0.8400	8	.	.	.	-8.1378	10.0606	0.42273	0.0:0.0:0.5324:0.4676	.	282;445	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	S	282;443;445	.	.	N	-	2	0	C12orf56	62957836	1.000000	0.71417	0.998000	0.56505	0.261000	0.26267	1.033000	0.30191	0.390000	0.25115	-0.313000	0.08912	AAT		0.353	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		C	64671569	T	C	64671569	3	2	568	1	0	0	0	0	1	0	0	0	1702	1493	52	3	563	3	C12orf56	12	64671569	Missense_Mutation	SNP	T	TCGA-CW-6093-01A-11D-1669-08	8825294	64671569	69180326	81	30846											
RASSF3	283349	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	65085342	65085342	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:65085342G>C	ENST00000542104.1	+	4	670	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	RASSF3_ENST00000336061.2_Missense_Mutation_p.E184Q	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	184	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.E184Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		TGTTCTTCGTGAACATGAAAT	0.448																																																1	Substitution - Missense(1)	kidney(1)											138	114	122					12																	65085342		2203	4300	6503	SO:0001583	missense	283349				CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.550G>C	12.37:g.65085342G>C	ENSP00000443021:p.Glu184Gln		Q86WH1	Missense_Mutation	SNP	ENST00000542104.1	37	CCDS8969.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612904	0.87258	.	.	ENSG00000153179	ENST00000542104;ENST00000336061;ENST00000541539	T;T	0.19105	2.17;2.17	4.85	4.85	0.62838	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.87547	2.89	0.80722	D	1	P	0.38300	0.626	B	0.41619	0.361	T	0.42799	-0.9430	9	.	.	.	-17.3261	18.3842	0.90461	0.0:0.0:1.0:0.0	.	184	Q86WH2	RASF3_HUMAN	Q	184;184;114	ENSP00000443021:E184Q;ENSP00000336616:E184Q	.	E	+	1	0	RASSF3	63371609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.883000	0.92426	2.415000	0.81967	0.561000	0.74099	GAA		0.448	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401161.1			C	65085342	G	C	65085342	3	2	568	1	0	0	0	0	1	0	0	0	13093	1291	45	4	564	4	RASSF3	12	65085342	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	413773	65085342	68766553	82	30847											
C12orf26	84190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	82796821	82796821	+	Missense_Mutation	SNP	A	A	G	rs374095144		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:82796821A>G	ENST00000248306.3	+	5	1260	c.1191A>G	c.(1189-1191)atA>atG	p.I397M	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	397							methyltransferase activity (GO:0008168)	p.I397M(1)									CTTTGCGAATATTTACCTCCA	0.373																																																1	Substitution - Missense(1)	kidney(1)						A	MET/ILE	0,4406		0,0,2203	96	93	94		1191	2.9	1	12		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	C12orf26	NM_032230.2	10	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	397/604	82796821	1,13005	2203	4300	6503	SO:0001583	missense	0			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1191A>G	12.37:g.82796821A>G	ENSP00000248306:p.Ile397Met		Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	A	7.838	0.721254	0.15372	0.0	1.16E-4	ENSG00000127720	ENST00000248306;ENST00000550298	T;T	0.42513	0.97;0.97	5.49	2.94	0.34122	.	0.083383	0.85682	N	0.000000	T	0.35682	0.0940	L	0.53249	1.67	0.40987	D	0.984827	B	0.26318	0.146	B	0.34301	0.179	T	0.10451	-1.0629	10	0.22109	T	0.4	-16.0759	5.953	0.19257	0.4412:0.1224:0.0:0.4364	.	397	Q8N6Q8	CL026_HUMAN	M	397;32	ENSP00000248306:I397M;ENSP00000449730:I32M	ENSP00000248306:I397M	I	+	3	3	C12orf26	81320952	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	2.210000	0.42816	0.874000	0.35823	0.482000	0.46254	ATA		0.373	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		G	82796821	A	G	82796821	3	3	568	1	0	0	0	0	1	0	0	0	1681	439	16	3	1209	3	C12orf26	12	82796821	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	17711479	82796821	51055074	83	30848											
ATXN2	6311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	111893890	111893891	+	Missense_Mutation	DNP	AT	AT	CA			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A|T	A|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:111893890_111893891AT>CA	ENST00000377617.3	-	23	3847_3848	c.3686_3687AT>TG	c.(3685-3687)cAT>cTG	p.H1229L	ATXN2_ENST00000535949.1_Missense_Mutation_p.H922L|ATXN2_ENST00000542287.2_Missense_Mutation_p.H964L|ATXN2_ENST00000389153.4_Missense_Mutation_p.H966L|ATXN2_ENST00000608853.1_Missense_Mutation_p.H1069L|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1229					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.H1229L(2)|p.H1229Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTGAGAAGGATGGATCGTAAA	0.55																																																3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3686_3687delinsCA	12.37:g.111893890_111893891delinsCA	ENSP00000366843:p.His1229Leu		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	CCDS31902.1																																																																																				0.55	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		CA	111893891	AT	CA	111893890	3	2	568	1	0	0	0	0	1	0	0	0	1211	330	12	5	266	5	ATXN2	12	111893890	Missense_Mutation	DNP	AT	TCGA-CW-6093-01A-11D-1669-08	29097069	111893890	21958005	84	30849											
C12orf43	64897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121442228	121442228	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:121442228G>C	ENST00000288757.3	-	6	539	c.517C>G	c.(517-519)Cag>Gag	p.Q173E	C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000445832.3_Missense_Mutation_p.Q143E|C12orf43_ENST00000537817.1_Missense_Mutation_p.Q174E|C12orf43_ENST00000539736.1_Missense_Mutation_p.Q163E|C12orf43_ENST00000366211.2_Missense_Mutation_p.Q132E	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	173								p.Q173E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTGACTCCTGTAGGATGTCG	0.587																																																1	Substitution - Missense(1)	kidney(1)											106	120	115					12																	121442228		2203	4300	6503	SO:0001583	missense	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.517C>G	12.37:g.121442228G>C	ENSP00000288757:p.Gln173Glu		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.12|13.12	2.141339|2.141339	0.37825|0.37825	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367|ENST00000546272	T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88|.	5.73|5.73	4.85|4.85	0.62838|0.62838	.|.	0.345606|.	0.30658|.	N|.	0.009155|.	T|.	0.55081|.	0.1898|.	M|M	0.72118|0.72118	2.19|2.19	0.19775|0.19775	N|N	0.999951|0.999951	P;P;P;P;B|.	0.50272|.	0.873;0.933;0.487;0.873;0.208|.	B;B;B;B;B|.	0.41510|.	0.359;0.359;0.122;0.359;0.047|.	T|.	0.50224|.	-0.8853|.	10|.	0.38643|.	T|.	0.18|.	-9.5299|-9.5299	9.4199|9.4199	0.38546|0.38546	0.0758:0.0:0.7727:0.1514|0.0758:0.0:0.7727:0.1514	.|.	163;132;174;163;173|.	G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57|.	.;.;.;.;CL043_HUMAN|.	E|X	143;173;174;132;163;111;128|126	ENSP00000409788:Q143E;ENSP00000288757:Q173E;ENSP00000442224:Q174E;ENSP00000437803:Q163E;ENSP00000442041:Q111E|.	ENSP00000288757:Q173E|.	Q|Y	-|-	1|3	0|2	C12orf43|C12orf43	119926611|119926611	.|.	.|.	0.781000|0.781000	0.31783|0.31783	0.072000|0.072000	0.16883|0.16883	.|.	.|.	1.448000|1.448000	0.47680|0.47680	-0.136000|-0.136000	0.14681|0.14681	CAG|TAC		0.587	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		C	121442228	G	C	121442228	3	2	568	1	0	0	0	0	1	0	0	0	1691	1386	48	4	275	4	C12orf43	12	121442228	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	9548338	121442228	12409667	85	30850											
IL31	386653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122656992	122656992	+	Silent	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:122656992T>C	ENST00000377035.1	-	3	488	c.462A>G	c.(460-462)tcA>tcG	p.S154S		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	154					immune system process (GO:0002376)	extracellular space (GO:0005615)		p.S154S(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CAGAGGTCAATGATTTTAGTG	0.453																																																1	Substitution - coding silent(1)	kidney(1)											126	118	121					12																	122656992		2203	4300	6503	SO:0001819	synonymous_variant	386653			AY499343	CCDS31919.1	12q24.31	2011-07-21			ENSG00000204671	ENSG00000204671		"Interleukins and interleukin receptors"	19372	protein-coding gene	gene with protein product		609509				15184896	Standard	NM_001014336		Approved	IL-31	uc001ubv.3	Q6EBC2	OTTHUMG00000168916	ENST00000377035.1:c.462A>G	12.37:g.122656992T>C			A2RUQ1	Silent	SNP	ENST00000377035.1	37	CCDS31919.1																																																																																				0.453	IL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401594.1	NM_001014336		C	122656992	T	C	122656992	2	2	568	1	0	0	0	0	0	0	0	1	7692	1451	51	3		3	IL31	12	122656992	Silent	SNP	T	TCGA-CW-6093-01A-11D-1669-08	1214764	122656992	11194903	86	30851											
KIAA1704	55425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	45589098	45589098	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr13:45589098C>A	ENST00000379151.4	+	5	523	c.420C>A	c.(418-420)agC>agA	p.S140R	GPALPP1_ENST00000361121.2_Missense_Mutation_p.S140R|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_5'UTR	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	140								p.S140R(1)									AAACAGACAGCAGTGAAGATG	0.343																																																1	Substitution - Missense(1)	kidney(1)											89	89	89					13																	45589098		2203	4300	6503	SO:0001583	missense	55425			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"KIAA1704"	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.420C>A	13.37:g.45589098C>A	ENSP00000368447:p.Ser140Arg		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198819	0.58126	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	.	.	.	5.8	2.13	0.27403	.	0.304287	0.42548	D	0.000695	T	0.46983	0.1421	L	0.58583	1.82	0.53688	D	0.999976	P	0.47253	0.892	B	0.42798	0.398	T	0.34900	-0.9810	9	0.33141	T	0.24	0.0643	9.9208	0.41464	0.0:0.6368:0.0:0.3632	.	140	Q8IXQ4	K1704_HUMAN	R	140	.	ENSP00000355211:S140R	S	+	3	2	KIAA1704	44487098	0.984000	0.35163	0.992000	0.48379	0.969000	0.65631	0.145000	0.16157	0.364000	0.24374	0.585000	0.79938	AGC		0.343	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		A	45589098	C	A	45589098	3	1	568	1	0	0	0	0	1	0	0	0	8254	709	25	4	438	4	KIAA1704	13	45589098	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08		45589098	69580780	87	30852											
JUB	84962	hgsc.bcm.edu;ucsc.edu	37	14	23444054	23444054	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr14:23444054delG	ENST00000262713.2	-	6	1791	c.1416delC	c.(1414-1416)cccfs	p.P472fs	AJUBA_ENST00000397388.3_Frame_Shift_Del_p.P55fs|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.P472fs	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	472	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										TGACCTCAGAGGGGAGGATGG	0.577																																																0													93	81	85					14																	23444054		2203	4300	6503	SO:0001589	frameshift_variant	0			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1416delC	14.37:g.23444054delG	ENSP00000262713:p.Pro472fs		A8MX18|D3DS37	Frame_Shift_Del	DEL	ENST00000262713.2	37	CCDS9581.1																																																																																				0.577	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			-	23444054	G	-	23444054	7	5	568	1	0	1	0	1	0	0	0	0	7970	987	35	0	212	0	JUB	14	23444054	Frame_Shift_Del	DEL	G	TCGA-CW-6093-01A-11D-1669-08		23444054	83905486	88	30853											
C14orf93	60686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23458974	23458974	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr14:23458974T>A	ENST00000299088.6	-	5	1490	c.1061A>T	c.(1060-1062)aAt>aTt	p.N354I	C14orf93_ENST00000397382.4_Missense_Mutation_p.N354I|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.N354I|C14orf93_ENST00000397379.3_Missense_Mutation_p.N354I|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Missense_Mutation_p.N174I|C14orf93_ENST00000341470.4_Missense_Mutation_p.N354I	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	354						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)	p.N354I(1)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		ATCAGTGTAATTGTGGGGACT	0.453																																																1	Substitution - Missense(1)	kidney(1)											122	114	117					14																	23458974		2203	4300	6503	SO:0001583	missense	60686			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1061A>T	14.37:g.23458974T>A	ENSP00000299088:p.Asn354Ile		B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455579	0.84209	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.85	5.85	0.93711	.	0.067457	0.64402	D	0.000009	T	0.56031	0.1958	L	0.27053	0.805	0.38749	D	0.954064	D;D	0.71674	0.998;0.998	D;D	0.69142	0.962;0.962	T	0.63283	-0.6672	10	0.87932	D	0	-15.615	15.2129	0.73241	0.0:0.0:0.0:1.0	.	354;354	Q9H972;Q9H972-2	CN093_HUMAN;.	I	354;354;354;354;174;354	ENSP00000299088:N354I;ENSP00000341353:N354I;ENSP00000380535:N354I;ENSP00000380538:N354I;ENSP00000380533:N174I;ENSP00000384768:N354I	ENSP00000299088:N354I	N	-	2	0	C14orf93	22528814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.496000	0.53288	2.233000	0.73108	0.533000	0.62120	AAT		0.453	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		A	23458974	T	A	23458974	3	1	568	1	0	0	0	0	1	0	0	0	1784	1493	52	5	567	5	C14orf93	14	23458974	Missense_Mutation	SNP	T	TCGA-CW-6093-01A-11D-1669-08	14920	23458974	83890566	89	30854											
ARHGAP5	394	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	32619205	32619205	+	Silent	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr14:32619205A>G	ENST00000345122.3	+	5	4356	c.4041A>G	c.(4039-4041)ccA>ccG	p.P1347P	ARHGAP5_ENST00000396582.2_Silent_p.P82P|ARHGAP5_ENST00000539826.2_Silent_p.P1347P|ARHGAP5_ENST00000433497.1_Silent_p.P86P|ARHGAP5_ENST00000556611.1_Silent_p.P1346P|ARHGAP5_ENST00000432921.1_Silent_p.P1346P	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1347	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.P1347P(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTTTAATTCCATATTCTCTTC	0.363																																					NSCLC(9;77 350 3443 29227 41353)											1	Substitution - coding silent(1)	kidney(1)											63	58	60					14																	32619205		2203	4299	6502	SO:0001819	synonymous_variant	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.4041A>G	14.37:g.32619205A>G			A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	CCDS32062.1																																																																																				0.363	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		G	32619205	A	G	32619205	2	3	568	1	0	0	0	0	0	0	0	1	886	204	8	3		3	ARHGAP5	14	32619205	Silent	SNP	A	TCGA-CW-6093-01A-11D-1669-08	9160231	32619205	74730335	90	30855											
DLGAP5	9787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55655785	55655785	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr14:55655785T>C	ENST00000247191.2	-	2	329	c.113A>G	c.(112-114)gAa>gGa	p.E38G	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E38G	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	38					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.E38G(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCGTTCGTATTCCTTATGTCT	0.353																																																1	Substitution - Missense(1)	kidney(1)											196	183	188					14																	55655785		2203	4300	6503	SO:0001583	missense	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.113A>G	14.37:g.55655785T>C	ENSP00000247191:p.Glu38Gly		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.424010	0.43020	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645;ENST00000554067	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.71	3.3	0.37823	.	0.600833	0.18300	N	0.145454	T	0.51958	0.1705	M	0.64997	1.995	0.25386	N	0.988575	D;D	0.57257	0.979;0.958	P;P	0.52672	0.706;0.48	T	0.45131	-0.9282	10	0.59425	D	0.04	.	6.2627	0.20910	0.2544:0.0696:0.0:0.676	.	38;38	A8MTM6;Q15398	.;DLGP5_HUMAN	G	38	ENSP00000378815:E38G;ENSP00000247191:E38G;ENSP00000451747:E38G;ENSP00000452168:E38G	ENSP00000247191:E38G	E	-	2	0	DLGAP5	54725538	0.997000	0.39634	0.975000	0.42487	0.653000	0.38743	2.513000	0.45494	0.493000	0.27837	-0.250000	0.11733	GAA		0.353	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		C	55655785	T	C	55655785	3	2	568	1	0	0	0	0	1	0	0	0	4565	1783	62	3	2594	3	DLGAP5	14	55655785	Missense_Mutation	SNP	T	TCGA-CW-6093-01A-11D-1669-08	23036580	55655785	51693755	91	30856											
PSMA3	5684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58714515	58714515	+	Silent	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr14:58714515A>G	ENST00000216455.4	+	2	159	c.69A>G	c.(67-69)caA>caG	p.Q23Q	PSMA3_ENST00000557508.1_Intron|PSMA3_ENST00000412908.2_Silent_p.Q23Q	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	23					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)	p.Q23Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GAGTTTTTCAAGTTGAATATG	0.368																																																1	Substitution - coding silent(1)	kidney(1)											110	106	107					14																	58714515		2203	4300	6503	SO:0001819	synonymous_variant	5684				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.69A>G	14.37:g.58714515A>G			B2RCK6|Q86U83|Q8N1D8|Q9BS70	Silent	SNP	ENST00000216455.4	37	CCDS9731.1																																																																																				0.368	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1	NM_002788		G	58714515	A	G	58714515	2	3	568	1	0	0	0	0	0	0	0	1	12673	69	3	3		3	PSMA3	14	58714515	Silent	SNP	A	TCGA-CW-6093-01A-11D-1669-08	3058730	58714515	48635025	92	30857											
NEDD4	4734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56208025	56208025	+	Silent	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr15:56208025G>A	ENST00000508342.1	-	1	1304	c.1005C>T	c.(1003-1005)ccC>ccT	p.P335P	NEDD4_ENST00000506154.1_Silent_p.P335P|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.P335P	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	335					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.P335P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTACTTCTCCGGGGGTACAAA	0.423																																																1	Substitution - coding silent(1)	kidney(1)											70	74	72					15																	56208025		2188	4288	6476	SO:0001819	synonymous_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1005C>T	15.37:g.56208025G>A			A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37																																																																																					0.423	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		A	56208025	G	A	56208025	2	1	568	1	0	0	0	0	0	0	0	1	10312	1103	39	1		1	NEDD4	15	56208025	Silent	SNP	G	TCGA-CW-6093-01A-11D-1669-08		56208025	46323367	93	30858											
ADAMTS7	11173	broad.mit.edu	37	15	79090324	79090324	+	Silent	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr15:79090324A>C	ENST00000388820.4	-	3	798	c.588T>G	c.(586-588)ggT>ggG	p.G196G	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	196					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G196G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CACTGGAATCACCCCGCTGTG	0.647																																																1	Substitution - coding silent(1)	kidney(1)											60	60	60					15																	79090324		2196	4293	6489	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.588T>G	15.37:g.79090324A>C			Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																				0.647	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		C	79090324	A	C	79090324	2	2	568	1	0	0	0	0	0	0	0	1	271	146	6	5		5	ADAMTS7	15	79090324	Silent	SNP	A	TCGA-CW-6093-01A-11D-1669-08	22882299	79090324	23441068	94	30859											
AGBL1	123624	broad.mit.edu;ucsc.edu	37	15	87066159	87066159	+	Silent	SNP	C	C	A	rs371874943		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr15:87066159C>A	ENST00000441037.2	+	18	2631	c.2536C>A	c.(2536-2538)Cga>Aga	p.R846R	AGBL1_ENST00000389298.3_Silent_p.R577R|AGBL1_ENST00000421325.2_Silent_p.R846R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	846					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R846R(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAGCATTGGCCGAAGTCCCGT	0.527																																																1	Substitution - coding silent(1)	kidney(1)											185	179	181					15																	87066159		2052	4207	6259	SO:0001819	synonymous_variant	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2536C>A	15.37:g.87066159C>A			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																				0.527	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		A	87066159	C	A	87066159	2	1	568	1	0	0	0	0	0	0	0	1	375	644	23	4		4	AGBL1	15	87066159	Silent	SNP	C	TCGA-CW-6093-01A-11D-1669-08	7975835	87066159	15465233	95	30860											
POLG	5428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89869918	89869918	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr15:89869918C>T	ENST00000268124.5	-	9	1970	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	POLG_ENST00000442287.2_Missense_Mutation_p.R546H	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	546			R -> C (in dbSNP:rs2307447). {ECO:0000269|Ref.4}.		aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.R546H(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CAAGCAGGCGCGGGCCATGAC	0.622								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)											1	Substitution - Missense(1)	kidney(1)											59	60	60					15																	89869918		2200	4299	6499	SO:0001583	missense	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1637G>A	15.37:g.89869918C>T	ENSP00000268124:p.Arg546His		Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	3.371	-0.128453	0.06753	.	.	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	D;D;D	0.93811	-3.14;-3.14;-3.29	5.21	1.15	0.20763	.	0.422878	0.27379	N	0.019630	T	0.82254	0.4997	N	0.14661	0.345	0.20926	N	0.999823	B	0.11235	0.004	B	0.04013	0.001	T	0.67059	-0.5766	10	0.21014	T	0.42	-5.1728	4.6771	0.12717	0.142:0.4802:0.0:0.3778	.	546	P54098	DPOG1_HUMAN	H	546;546;2	ENSP00000268124:R546H;ENSP00000399851:R546H;ENSP00000432389:R2H	ENSP00000268124:R546H	R	-	2	0	POLG	87670922	0.000000	0.05858	0.159000	0.22649	0.009000	0.06853	-0.221000	0.09202	0.064000	0.16427	-0.258000	0.10820	CGC		0.622	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		T	89869918	C	T	89869918	3	4	568	1	0	0	0	0	1	0	0	0	12202	768	27	1	2142	1	POLG	15	89869918	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	2803759	89869918	12661474	96	30861											
ZNF710	374655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90616318	90616318	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr15:90616318A>C	ENST00000268154.4	+	3	1725	c.1474A>C	c.(1474-1476)Aag>Cag	p.K492Q	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K492Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GAAGGAGTTCAAGTGCGAGGT	0.632																																																1	Substitution - Missense(1)	kidney(1)											71	61	65					15																	90616318		2200	4298	6498	SO:0001583	missense	374655			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1474A>C	15.37:g.90616318A>C	ENSP00000268154:p.Lys492Gln		A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328091	0.81690	.	.	ENSG00000140548	ENST00000268154	T	0.08370	3.1	5.01	5.01	0.66863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.687230	0.12947	N	0.426125	T	0.23014	0.0556	L	0.46819	1.47	0.51012	D	0.999903	D	0.89917	1.0	D	0.91635	0.999	T	0.00290	-1.1843	10	0.62326	D	0.03	-43.8392	12.7283	0.57183	1.0:0.0:0.0:0.0	.	492	Q8N1W2	ZN710_HUMAN	Q	492	ENSP00000268154:K492Q	ENSP00000268154:K492Q	K	+	1	0	ZNF710	88417322	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	2.102000	0.63906	0.454000	0.30748	AAG		0.632	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		C	90616318	A	C	90616318	3	2	568	1	0	0	0	0	1	0	0	0	18120	131	5	5	1480	5	ZNF710	15	90616318	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	746400	90616318	11915074	97	30862											
EME2	197342	broad.mit.edu	37	16	1825568	1825568	+	Splice_Site	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:1825568A>C	ENST00000568449.1	+	6	684		c.e6-1		MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_Splice_Site|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)	p.?(1)|p.Q301P(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CCTCCTCCCCAGGCCCTGGTA	0.632								Direct reversal of damage;Homologous recombination																																								2	Substitution - Missense(1)|Unknown(1)	kidney(2)											37	37	37					16																	1825568		2195	4299	6494	SO:0001630	splice_region_variant	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.664-1A>C	16.37:g.1825568A>C			Q8TEP2|Q96RY3	Splice_Site	SNP	ENST00000568449.1	37	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948274	0.53186	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0758	0.53643	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EME2	1765569	1.000000	0.71417	0.867000	0.34043	0.718000	0.41266	6.985000	0.76193	1.741000	0.51731	0.459000	0.35465	.		0.632	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865	Intron	C	1825568	A	C	1825568	5	2	568	1	0	0	0	0	0	0	1	0	5091	202	7	5	837	5	EME2	16	1825568	Splice_Site	SNP	A	TCGA-CW-6093-01A-11D-1669-08		1825568	88529185	98	30863											
APOB48R	55911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28508786	28508786	+	Silent	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:28508786A>G	ENST00000431282.1	+	3	2407	c.2397A>G	c.(2395-2397)gaA>gaG	p.E799E	APOBR_ENST00000328423.5_Silent_p.E799E|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Silent_p.E808E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	799	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)	p.E799E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GTGGGCAAGAATTTGGTCTGG	0.597																																																1	Substitution - coding silent(1)	kidney(1)											38	44	42					16																	28508786		2060	4203	6263	SO:0001819	synonymous_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2397A>G	16.37:g.28508786A>G			H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37																																																																																					0.597	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		G	28508786	A	G	28508786	2	3	568	1	0	0	0	0	0	0	0	1	786	98	4	3		3	APOB48R	16	28508786	Silent	SNP	A	TCGA-CW-6093-01A-11D-1669-08	26683218	28508786	61845967	99	30864											
C16orf70	80262	broad.mit.edu;ucsc.edu	37	16	67166430	67166430	+	Splice_Site	SNP	T	T	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:67166430T>G	ENST00000219139.3	+	5	543		c.e5+2		C16orf70_ENST00000569600.1_Splice_Site|C16orf70_ENST00000569683.1_Splice_Site	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70									p.?(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATCCTGGAGGTAAGCCAAGTC	0.488																																																1	Unknown(1)	kidney(1)											123	110	115					16																	67166430		2200	4300	6500	SO:0001630	splice_region_variant	80262			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.355+2T>G	16.37:g.67166430T>G			Q9HA86	Splice_Site	SNP	ENST00000219139.3	37	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428948	0.83667	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1994	0.54315	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C16orf70	65723931	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.405000	0.80007	2.147000	0.66899	0.533000	0.62120	.		0.488	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187	Intron	G	67166430	T	G	67166430	5	3	568	1	0	0	0	0	0	0	1	0	1831	1652	57	5	375	5	C16orf70	16	67166430	Splice_Site	SNP	T	TCGA-CW-6093-01A-11D-1669-08	38657644	67166430	23188323	100	30865											
NFAT5	10725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69681465	69681465	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:69681465A>T	ENST00000354436.2	+	3	1052	c.734A>T	c.(733-735)aAa>aTa	p.K245I	NFAT5_ENST00000566899.1_Missense_Mutation_p.K169I|NFAT5_ENST00000349945.1_Missense_Mutation_p.K169I|NFAT5_ENST00000567239.1_Missense_Mutation_p.K263I|NFAT5_ENST00000393742.2_Missense_Mutation_p.K169I|NFAT5_ENST00000432919.1_Missense_Mutation_p.K263I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	245					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K263I(1)|p.K169I(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACGGACAACAAAGGCAACTCA	0.363																																																2	Substitution - Missense(2)	kidney(2)											70	69	70					16																	69681465		2197	4294	6491	SO:0001583	missense	10725			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.734A>T	16.37:g.69681465A>T	ENSP00000346420:p.Lys245Ile		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907815	0.52333	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.50001	0.79;0.76;0.79;0.76	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.29908	0.895	0.80722	D	1	P;D;D	0.89917	0.726;0.999;1.0	B;D;D	0.87578	0.343;0.998;0.975	T	0.62025	-0.6941	10	0.66056	D	0.02	-3.3687	15.5357	0.76001	1.0:0.0:0.0:0.0	.	263;245;263	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	263;263;169;245;169	ENSP00000396538:K263I;ENSP00000338806:K169I;ENSP00000346420:K245I;ENSP00000377343:K169I	ENSP00000338806:K169I	K	+	2	0	NFAT5	68238966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.544000	0.82117	2.061000	0.61500	0.477000	0.44152	AAA		0.363	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		T	69681465	A	T	69681465	3	4	568	1	0	0	0	0	1	0	0	0	10362	14	1	5	802	5	NFAT5	16	69681465	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	2515035	69681465	20673288	101	30866											
ZFHX3	463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	72991477	72991477	+	Silent	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:72991477G>A	ENST00000268489.5	-	2	3240	c.2568C>T	c.(2566-2568)ccC>ccT	p.P856P	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	856					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P856P(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCCTCGGCGGGTGAGGGCA	0.572																																																1	Substitution - coding silent(1)	kidney(1)											100	95	97					16																	72991477		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2568C>T	16.37:g.72991477G>A			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.572	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		A	72991477	G	A	72991477	2	1	568	1	0	0	0	0	0	0	0	1	17639	1103	39	1		1	ZFHX3	16	72991477	Silent	SNP	G	TCGA-CW-6093-01A-11D-1669-08	3310012	72991477	17363276	102	30867											
ANKRD11	29123	broad.mit.edu	37	16	89345631	89345631	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:89345631T>G	ENST00000301030.4	-	9	7779	c.7319A>C	c.(7318-7320)gAa>gCa	p.E2440A	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E2440A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2440					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E2440A(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCAGGTATTCGAAGTAGGG	0.612																																																1	Substitution - Missense(1)	kidney(1)											33	30	31					16																	89345631		2197	4278	6475	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7319A>C	16.37:g.89345631T>G	ENSP00000301030:p.Glu2440Ala		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	t	20.0	3.930144	0.73327	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.42513	0.97;0.97	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000005	T	0.65565	0.2703	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70691	-0.4802	10	0.72032	D	0.01	.	14.8198	0.70062	0.0:0.0:0.0:1.0	.	2440	Q6UB99	ANR11_HUMAN	A	2440	ENSP00000301030:E2440A;ENSP00000367581:E2440A	ENSP00000301030:E2440A	E	-	2	0	ANKRD11	87873132	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	7.922000	0.87538	1.913000	0.55393	0.248000	0.18094	GAA		0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		G	89345631	T	G	89345631	3	3	568	1	0	0	0	0	1	0	0	0	639	1783	62	5	692	5	ANKRD11	16	89345631	Missense_Mutation	SNP	T	TCGA-CW-6093-01A-11D-1669-08	16354154	89345631	1009122	103	30868											
NEURL4	84461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7224466	7224466	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr17:7224466C>G	ENST00000399464.2	-	20	3340	c.3325G>C	c.(3325-3327)Gag>Cag	p.E1109Q	NEURL4_ENST00000315614.7_Missense_Mutation_p.E1107Q|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.E1085Q|NEURL4_ENST00000574120.1_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1109						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E1109Q(1)|p.E1107Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCATCCTCCTCGCCCTCACTG	0.627																																																2	Substitution - Missense(2)	kidney(2)											60	64	63					17																	7224466		2191	4285	6476	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3325G>C	17.37:g.7224466C>G	ENSP00000382390:p.Glu1109Gln		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984266	0.35036	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.32023	1.47;1.47	4.73	4.73	0.59995	.	0.182125	0.47093	D	0.000258	T	0.27098	0.0664	L	0.33485	1.01	0.42178	D	0.991672	P;P	0.37330	0.59;0.455	B;B	0.39935	0.314;0.167	T	0.03641	-1.1017	10	0.19147	T	0.46	-14.7204	16.648	0.85181	0.0:1.0:0.0:0.0	.	1107;1109	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	Q	1107;1109	ENSP00000319826:E1107Q;ENSP00000382390:E1109Q	ENSP00000319826:E1107Q	E	-	1	0	NEURL4	7165190	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.244000	0.72391	2.456000	0.83038	0.563000	0.77884	GAG		0.627	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		G	7224466	C	G	7224466	3	3	568	1	0	0	0	0	1	0	0	0	10349	893	31	4	1403	4	NEURL4	17	7224466	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08		7224466	73970744	104	30869											
MYH4	4622	hgsc.bcm.edu;ucsc.edu	37	17	10356638	10356638	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr17:10356638delT	ENST00000255381.2	-	24	3052	c.2942delA	c.(2941-2943)aacfs	p.N981fs	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	981					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTGTGAGGTTTTTCACCTT	0.448																																																0													148	137	141					17																	10356638		2203	4300	6503	SO:0001589	frameshift_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2942delA	17.37:g.10356638delT	ENSP00000255381:p.Asn981fs			Frame_Shift_Del	DEL	ENST00000255381.2	37	CCDS11154.1																																																																																				0.448	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		-	10356638	T	-	10356638	7	5	568	1	0	1	0	1	0	0	0	0	10039	1725	60	0	2945	0	MYH4	17	10356638	Frame_Shift_Del	DEL	T	TCGA-CW-6093-01A-11D-1669-08	3132172	10356638	70838572	105	30870											
PPM1E	4591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57057344	57057344	+	IGR	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr17:57057344A>C	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.E407A	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E407A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGAGATGCTGAACATAAGCCA	0.478									Mulibrey Nanism																																							1	Substitution - Missense(1)	kidney(1)											98	72	81					17																	57057344		2203	4300	6503	SO:0001628	intergenic_variant	22843	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057344A>C			Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644249	0.67244	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.18502	2.21	5.52	5.52	0.82312	.	0.092317	0.64402	D	0.000001	T	0.26593	0.0650	L	0.35644	1.08	0.80722	D	1	P;P	0.45768	0.866;0.856	P;P	0.55222	0.675;0.771	T	0.01099	-1.1452	10	0.29301	T	0.29	-12.2633	15.6493	0.77078	1.0:0.0:0.0:0.0	.	416;407	Q8WY54-3;Q8WY54-2	.;.	A	407;258	ENSP00000312411:E407A	ENSP00000312411:E407A	E	+	2	0	PPM1E	54412126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.109000	0.64355	0.402000	0.26972	GAA		0.478	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294		C	57057344	A	C	57057344	1	2	568	0	1	0	0	0	0	0	0	0	12343	246	9	5		5	PPM1E	17	57057344	IGR	SNP	A	TCGA-CW-6093-01A-11D-1669-08	46700706	57057344	24137866	106	30871											
APOH	350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	64222147	64222147	+	Splice_Site	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr17:64222147C>T	ENST00000205948.6	-	3	374	c.337G>A	c.(337-339)Ggg>Agg	p.G113R		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	113	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.G113R(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			AGTTCTTACCCAGTGTTACAA	0.383																																					Melanoma(155;624 1882 16869 48804 51309)											1	Substitution - Missense(1)	kidney(1)											101	91	94					17																	64222147		2203	4300	6503	SO:0001630	splice_region_variant	350				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.338+1G>A	17.37:g.64222147C>T			B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	c	8.686	0.906252	0.17760	.	.	ENSG00000091583	ENST00000205948	T	0.76709	-1.04	5.55	5.55	0.83447	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	H	0.94698	3.57	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.93146	0.6545	10	0.87932	D	0	.	15.0313	0.71708	0.0:1.0:0.0:0.0	.	113	P02749	APOH_HUMAN	R	113	ENSP00000205948:G113R	ENSP00000205948:G113R	G	-	1	0	APOH	61652609	0.993000	0.37304	0.958000	0.39756	0.028000	0.11728	3.992000	0.56980	2.611000	0.88343	0.563000	0.77884	GGG		0.383	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042	Missense_Mutation	T	64222147	C	T	64222147	5	4	568	1	0	0	0	0	0	0	1	0	804	608	21	2	724	2	APOH	17	64222147	Splice_Site	SNP	C	TCGA-CW-6093-01A-11D-1669-08	7164803	64222147	16973063	107	30872											
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	7036007	7036007	+	Silent	SNP	C	C	T	rs552854758		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr18:7036007C>T	ENST00000389658.3	-	13	1911	c.1818G>A	c.(1816-1818)tcG>tcA	p.S606S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	606	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.S606S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGTCAGCATGCGACATGAGGT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		22506	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											192	129	150					18																	7036007		2203	4300	6503	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1818G>A	18.37:g.7036007C>T				Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.438	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		T	7036007	C	T	7036007	2	4	568	1	0	0	0	0	0	0	0	1	8607	755	27	1		1	LAMA1	18	7036007	Silent	SNP	C	TCGA-CW-6093-01A-11D-1669-08		7036007	71041241	108	30873											
FAM38B	63895	broad.mit.edu;hgsc.bcm.edu	37	18	10697808	10697808	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr18:10697808C>T	ENST00000503781.3	-	41	6425	c.6426G>A	c.(6424-6426)agG>agA	p.R2142R	PIEZO2_ENST00000285141.4_5'UTR|PIEZO2_ENST00000302079.6_Silent_p.R2142R|PIEZO2_ENST00000538948.1_Silent_p.R99R|PIEZO2_ENST00000580640.1_Silent_p.R2167R	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2142					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.R2142R(1)									TATAAAGTTCCCTTTTGCCTT	0.368																																																1	Substitution - coding silent(1)	kidney(1)											142	135	138					18																	10697808		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6426G>A	18.37:g.10697808C>T			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37																																																																																					0.368	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		T	10697808	C	T	10697808	2	4	568	1	0	0	0	0	0	0	0	1	5557	622	22	2		2	FAM38B	18	10697808	Silent	SNP	C	TCGA-CW-6093-01A-11D-1669-08	3661801	10697808	67379440	109	30874											
THEG	51298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	375847	375847	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:375847C>T	ENST00000342640.4	-	1	166	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	THEG_ENST00000346878.2_Missense_Mutation_p.V42I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	42					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.V42I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCTGTGACCCGCCGGCTC	0.677																																																1	Substitution - Missense(1)	kidney(1)											42	47	45					19																	375847		2203	4299	6502	SO:0001583	missense	51298			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.124G>A	19.37:g.375847C>T	ENSP00000340088:p.Val42Ile		A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	2.746	-0.261181	0.05791	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.18338	2.23;2.22	3.16	-6.33	0.01988	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.004;0.006	T	0.30504	-0.9976	9	0.27785	T	0.31	-17.7507	2.422	0.04450	0.312:0.2246:0.3585:0.1049	.	42;42	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	I	42	ENSP00000340088:V42I;ENSP00000264820:V42I	ENSP00000340088:V42I	V	-	1	0	THEG	326847	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.212000	0.00555	-2.568000	0.00469	-0.397000	0.06425	GTC		0.677	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			T	375847	C	T	375847	3	4	568	1	0	0	0	0	1	0	0	0	15862	507	18	2	1047	2	THEG	19	375847	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08		375847	58753136	110	30875											
FZR1	51343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3523035	3523035	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:3523035G>C	ENST00000395095.3	+	1	48	c.48G>C	c.(46-48)caG>caC	p.Q16H	SNORD38_ENST00000516599.1_RNA|FZR1_ENST00000313639.8_Missense_Mutation_p.Q16H|FZR1_ENST00000441788.2_Missense_Mutation_p.Q16H	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	16					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Q16H(1)		endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGTCATCCAGAATGAGAACA	0.687																																																1	Substitution - Missense(1)	kidney(1)											76	75	75					19																	3523035		2203	4299	6502	SO:0001583	missense	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.48G>C	19.37:g.3523035G>C	ENSP00000378529:p.Gln16His		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292005	0.40594	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.07908	3.15;3.15;3.15	4.17	1.96	0.26148	.	0.000000	0.64402	D	0.000001	T	0.13457	0.0326	L	0.27053	0.805	0.23336	N	0.997882	P;D;P	0.54397	0.472;0.966;0.771	B;D;P	0.72338	0.179;0.977;0.506	T	0.05517	-1.0880	10	0.45353	T	0.12	-24.0588	7.9217	0.29850	0.2017:0.0:0.7983:0.0	.	16;16;16	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	H	16	ENSP00000410369:Q16H;ENSP00000378529:Q16H;ENSP00000321800:Q16H	ENSP00000321800:Q16H	Q	+	3	2	FZR1	3474035	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	2.343000	0.44001	0.395000	0.25257	0.555000	0.69702	CAG		0.687	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		C	3523035	G	C	3523035	3	2	568	1	0	0	0	0	1	0	0	0	6140	933	33	4	50	4	FZR1	19	3523035	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	3147188	3523035	55605948	111	30876											
ACTL9	284382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8807902	8807902	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:8807902C>T	ENST00000324436.3	-	1	1270	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	384						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G384S(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGATGGAGCCCCCGATCCAT	0.652																																																1	Substitution - Missense(1)	kidney(1)											34	37	36					19																	8807902		2203	4299	6502	SO:0001583	missense	284382				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1150G>A	19.37:g.8807902C>T	ENSP00000316674:p.Gly384Ser		A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.647067	0.87958	.	.	ENSG00000181786	ENST00000324436	D	0.97688	-4.49	4.51	4.51	0.55191	.	0.000000	0.43579	U	0.000557	D	0.98823	0.9603	M	0.89478	3.035	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.99517	1.0957	10	0.87932	D	0	.	16.3263	0.82983	0.0:1.0:0.0:0.0	.	384	Q8TC94	ACTL9_HUMAN	S	384	ENSP00000316674:G384S	ENSP00000316674:G384S	G	-	1	0	ACTL9	8668902	1.000000	0.71417	0.996000	0.52242	0.564000	0.35744	7.158000	0.77470	2.507000	0.84556	0.457000	0.33378	GGC		0.652	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		T	8807902	C	T	8807902	3	4	568	1	0	0	0	0	1	0	0	0	203	623	22	2	104	2	ACTL9	19	8807902	Missense_Mutation	SNP	C	TCGA-CW-6093-01A-11D-1669-08	5284867	8807902	50321081	112	30877											
MAST3	23031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18255405	18255405	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:18255405A>G	ENST00000262811.6	+	22	2627	c.2627A>G	c.(2626-2628)aAg>aGg	p.K876R	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	876							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.K898R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCCTGAGAAGTCCAGAGCC	0.687																																																1	Substitution - Missense(1)	kidney(1)											34	42	40					19																	18255405		2052	4191	6243	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2627A>G	19.37:g.18255405A>G	ENSP00000262811:p.Lys876Arg		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	A	8.743	0.919506	0.17982	.	.	ENSG00000099308	ENST00000262811	T	0.65916	-0.18	4.57	4.57	0.56435	.	.	.	.	.	T	0.53481	0.1799	M	0.65975	2.015	0.41357	D	0.987401	B	0.18741	0.03	B	0.12156	0.007	T	0.46569	-0.9182	9	0.07325	T	0.83	-30.2467	9.4009	0.38431	0.9113:0.0:0.0887:0.0	.	876	O60307	MAST3_HUMAN	R	876	ENSP00000262811:K876R	ENSP00000262811:K876R	K	+	2	0	MAST3	18116405	0.993000	0.37304	0.868000	0.34077	0.823000	0.46562	3.094000	0.50227	1.706000	0.51276	0.402000	0.26972	AAG		0.687	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		G	18255405	A	G	18255405	3	3	568	1	0	0	0	0	1	0	0	0	9328	72	3	3	2713	3	MAST3	19	18255405	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	9447503	18255405	40873578	113	30878											
ZFP14	57677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36831956	36831956	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:36831956A>G	ENST00000270001.7	-	5	887	c.772T>C	c.(772-774)Tgt>Cgt	p.C258R		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C258R(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CATTCCTTACATTCATAGGGT	0.433																																																1	Substitution - Missense(1)	kidney(1)											81	85	84					19																	36831956		2203	4300	6503	SO:0001583	missense	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.772T>C	19.37:g.36831956A>G	ENSP00000270001:p.Cys258Arg		A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	a	17.16	3.317377	0.60524	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	D	0.85258	-1.96	4.07	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000146	D	0.94883	0.8346	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96041	0.9024	10	0.87932	D	0	.	12.4234	0.55532	1.0:0.0:0.0:0.0	.	258;258	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	R	258	ENSP00000270001:C258R	ENSP00000270001:C258R	C	-	1	0	ZFP14	41523796	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.764000	0.91719	1.831000	0.53308	0.448000	0.29417	TGT		0.433	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		G	36831956	A	G	36831956	3	3	568	1	0	0	0	0	1	0	0	0	17644	217	8	3	833	3	ZFP14	19	36831956	Missense_Mutation	SNP	A	TCGA-CW-6093-01A-11D-1669-08	18576551	36831956	22297027	114	30879											
SLC17A7	57030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49934326	49934326	+	Silent	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:49934326G>A	ENST00000221485.3	-	11	1506	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	SLC17A7_ENST00000600601.1_Silent_p.G378G|SLC17A7_ENST00000543531.1_Silent_p.G433G	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	445					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.G445G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCGACAGTGTGCCCACGCCGT	0.617																																																1	Substitution - coding silent(1)	kidney(1)											88	71	77					19																	49934326		2203	4300	6503	SO:0001819	synonymous_variant	57030			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1335C>T	19.37:g.49934326G>A			B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	CCDS12764.1																																																																																				0.617	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			A	49934326	G	A	49934326	2	1	568	1	0	0	0	0	0	0	0	1	14428	1306	46	2		2	SLC17A7	19	49934326	Silent	SNP	G	TCGA-CW-6093-01A-11D-1669-08	13102370	49934326	9194657	115	30880											
PLCG1	5335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39796506	39796506	+	Silent	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr20:39796506G>T	ENST00000373271.1	+	20	2721	c.2316G>T	c.(2314-2316)ggG>ggT	p.G772G	PLCG1_ENST00000244007.3_Silent_p.G772G|PLCG1_ENST00000373272.2_Silent_p.G772G	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	772					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.G772G(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTGACTACGGGGCCCTGTATG	0.542																																																1	Substitution - coding silent(1)	kidney(1)											73	66	68					20																	39796506		2203	4300	6503	SO:0001819	synonymous_variant	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2316G>T	20.37:g.39796506G>T			B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	CCDS13314.1																																																																																				0.542	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		T	39796506	G	T	39796506	2	4	568	1	0	0	0	0	0	0	0	1	12037	1219	43	4		4	PLCG1	20	39796506	Silent	SNP	G	TCGA-CW-6093-01A-11D-1669-08		39796506	23229014	116	30881											
SULF2	55959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	46365503	46365503	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr20:46365503G>T	ENST00000359930.4	-	3	1210	c.359C>A	c.(358-360)gCa>gAa	p.A120E	SULF2_ENST00000467815.1_Missense_Mutation_p.A120E|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Missense_Mutation_p.A120E|SULF2_ENST00000484875.1_Missense_Mutation_p.A120E	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	120					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.A120E(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTCGTGCTGTGCCTGCCAGGA	0.607																																																1	Substitution - Missense(1)	kidney(1)											210	149	170					20																	46365503		2203	4300	6503	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.359C>A	20.37:g.46365503G>T	ENSP00000353007:p.Ala120Glu		E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355922	0.82243	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.98512	-4.01;-4.01;-4.01;-4.01;-4.97	5.34	5.34	0.76211	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.209202	0.48767	D	0.000172	D	0.97911	0.9313	L	0.35542	1.07	0.80722	D	1	P;D;D	0.63880	0.476;0.992;0.993	B;P;D	0.62955	0.204;0.853;0.909	D	0.98310	1.0523	10	0.41790	T	0.15	-13.6892	19.0439	0.93012	0.0:0.0:1.0:0.0	.	120;120;120	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	E	120	ENSP00000353007:A120E;ENSP00000418290:A120E;ENSP00000354662:A120E;ENSP00000418442:A120E;ENSP00000410026:A120E	ENSP00000353007:A120E	A	-	2	0	SULF2	45798910	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.944000	0.87722	2.502000	0.84385	0.561000	0.74099	GCA		0.607	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		T	46365503	G	T	46365503	3	4	568	1	0	0	0	0	1	0	0	0	15376	1319	46	4	2329	4	SULF2	20	46365503	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	6568997	46365503	16660017	117	30882											
MYO18B	84700	broad.mit.edu;hgsc.bcm.edu	37	22	26164741	26164741	+	Silent	SNP	A	A	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr22:26164741A>T	ENST00000407587.2	+	4	1027	c.858A>T	c.(856-858)ggA>ggT	p.G286G	MYO18B_ENST00000536101.1_Silent_p.G286G|MYO18B_ENST00000335473.7_Silent_p.G286G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	286						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G286G(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAAGGAGGGAGCAGAGCCCA	0.617																																																1	Substitution - coding silent(1)	kidney(1)											20	24	22					22																	26164741		1978	4146	6124	SO:0001819	synonymous_variant	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.858A>T	22.37:g.26164741A>T			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37																																																																																					0.617	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		T	26164741	A	T	26164741	2	4	568	1	0	0	0	0	0	0	0	1	10068	291	11	5		5	MYO18B	22	26164741	Silent	SNP	A	TCGA-CW-6093-01A-11D-1669-08		26164741	25139825	118	30883											
GTSE1	51512	hgsc.bcm.edu;ucsc.edu	37	22	46725272	46725272	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr22:46725272delC	ENST00000454366.1	+	11	2156	c.1944delC	c.(1942-1944)atcfs	p.I648fs		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	629					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TTGTAGATATCAAACTGGAAC	0.512																																					GBM(153;542 1915 12487 29016 50495)											0													148	156	154					22																	46725272		2203	4300	6503	SO:0001589	frameshift_variant	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1944delC	22.37:g.46725272delC	ENSP00000415430:p.Ile648fs		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Frame_Shift_Del	DEL	ENST00000454366.1	37	CCDS14074.2																																																																																				0.512	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		-	46725272	C	-	46725272	7	5	568	1	0	1	0	1	0	0	0	0	6887	816	29	0	1982	0	GTSE1	22	46725272	Frame_Shift_Del	DEL	C	TCGA-CW-6093-01A-11D-1669-08	20560531	46725272	4579294	119	30884											
CXorf22	170063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	35974189	35974189	+	Missense_Mutation	SNP	G	G	A	rs371807838		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chrX:35974189G>A	ENST00000297866.5	+	8	1352	c.1286G>A	c.(1285-1287)cGt>cAt	p.R429H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	429								p.R429H(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATGGGTGAACGTTCAGAAATT	0.373																																																2	Substitution - Missense(2)	kidney(2)						G	HIS/ARG	0,3833		0,0,1631,571	79	74	75		1286	-10.3	0	X		75	1,6727		0,1,2427,1872	no	missense	CXorf22	NM_152632.3	29	0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	429/977	35974189	1,10560	2202	4300	6502	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1286G>A	X.37:g.35974189G>A	ENSP00000297866:p.Arg429His		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.613957	0.00835	0.0	1.49E-4	ENSG00000165164	ENST00000297866	T	0.53206	0.63	5.14	-10.3	0.00346	.	0.840228	0.10886	N	0.623220	T	0.18593	0.0446	N	0.02315	-0.6	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.34825	-0.9813	10	0.33141	T	0.24	-8.8988	15.6973	0.77509	0.831:0.0808:0.0881:0.0	.	429	Q6ZTR5	CX022_HUMAN	H	429	ENSP00000297866:R429H	ENSP00000297866:R429H	R	+	2	0	CXorf22	35884110	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.989000	0.03736	-2.361000	0.00609	-0.192000	0.12808	CGT		0.373	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		A	35974189	G	A	35974189	3	1	568	1	0	0	0	0	1	0	0	0	4104	1145	40	1	1316	1	CXorf22	23	35974189	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08		35974189	119296371	120	30885											
CLCN5	1184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	49851500	49851500	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chrX:49851500C>T	ENST00000307367.2	+	8	1611	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V	CLCN5_ENST00000376088.3_Silent_p.V510V|CLCN5_ENST00000376091.3_Silent_p.V510V|CLCN5_ENST00000376108.3_Silent_p.V440V			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	440					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.V510V(1)|p.V440V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGAAAATTGTCATTACTATAT	0.498																																																2	Substitution - coding silent(2)	kidney(2)											68	63	65					X																	49851500		2203	4300	6503	SO:0001819	synonymous_variant	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1320C>T	X.37:g.49851500C>T			A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	CCDS14328.1																																																																																				0.498	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			T	49851500	C	T	49851500	2	4	568	1	0	0	0	0	0	0	0	1	3468	813	29	2		2	CLCN5	23	49851500	Silent	SNP	C	TCGA-CW-6093-01A-11D-1669-08	13877311	49851500	105419060	121	30886											
NUDT10	170685	broad.mit.edu;hgsc.bcm.edu	37	X	51075924	51075924	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chrX:51075924T>C	ENST00000376006.3	+	2	327	c.107T>C	c.(106-108)gTg>gCg	p.V36A	NUDT10_ENST00000356450.2_Missense_Mutation_p.V36A	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.V36A(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GTCCTGTTAGTGAGTAGCAGC	0.687																																					NSCLC(90;1817 2035 37909 38249)											1	Substitution - Missense(1)	kidney(1)											27	27	27					X																	51075924		2203	4299	6502	SO:0001583	missense	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.107T>C	X.37:g.51075924T>C	ENSP00000365174:p.Val36Ala		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000376006.3	37	CCDS35278.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281301	0.80692	.	.	ENSG00000122824	ENST00000376006;ENST00000356450	T;T	0.10477	2.87;2.87	3.14	3.14	0.36123	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	M	0.81112	2.525	0.42249	D	0.991965	D	0.89917	1.0	D	0.91635	0.999	T	0.38001	-0.9681	9	0.87932	D	0	-29.8037	4.5698	0.12205	0.0:0.1538:0.0:0.8462	.	36	Q8NFP7	NUD10_HUMAN	A	36	ENSP00000365174:V36A;ENSP00000348831:V36A	ENSP00000348831:V36A	V	+	2	0	NUDT10	51092664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.429000	0.52800	1.295000	0.44724	0.350000	0.21858	GTG		0.687	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		C	51075924	T	C	51075924	3	2	568	1	0	0	0	0	1	0	0	0	10728	1696	59	3	109	3	NUDT10	23	51075924	Missense_Mutation	SNP	T	TCGA-CW-6093-01A-11D-1669-08	1224424	51075924	104194636	122	30887											
MAGEC1	9947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	140994794	140994794	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chrX:140994794G>C	ENST00000285879.4	+	4	1890	c.1604G>C	c.(1603-1605)aGt>aCt	p.S535T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	535								p.S535T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGTTCCAAGTCTTCCTGAG	0.527										HNSCC(15;0.026)																																						1	Substitution - Missense(1)	kidney(1)											141	148	146					X																	140994794		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1604G>C	X.37:g.140994794G>C	ENSP00000285879:p.Ser535Thr		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	4.791	0.146998	0.09134	.	.	ENSG00000155495	ENST00000285879	T	0.02421	4.3	.	.	.	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	0.09310	N	0.999997	P	0.38110	0.618	B	0.39706	0.307	T	0.46470	-0.9189	8	0.87932	D	0	.	3.4325	0.07433	0.6531:0.0:0.3469:0.0	.	535	O60732	MAGC1_HUMAN	T	535	ENSP00000285879:S535T	ENSP00000285879:S535T	S	+	2	0	MAGEC1	140822460	0.031000	0.19500	0.006000	0.13384	0.006000	0.05464	1.562000	0.36353	0.139000	0.18822	0.141000	0.15989	AGT		0.527	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		C	140994794	G	C	140994794	3	2	568	1	0	0	0	0	1	0	0	0	9182	1029	36	4	1610	4	MAGEC1	23	140994794	Missense_Mutation	SNP	G	TCGA-CW-6093-01A-11D-1669-08	89918870	140994794	14275766	123	30888											
ARID1A	8289	broad.mit.edu	37	1	27105895	27105896	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr1:27105895_27105896insA	ENST00000324856.7	+	20	5877_5878	c.5506_5507insA	c.(5506-5508)gagfs	p.E1836fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.E1453fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.E164fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.E1619fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1836					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGTGTGCAGGAGTTTGACAGT	0.535			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0																																										SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5507dupA	1.37:g.27105896_27105896dupA	ENSP00000320485:p.Glu1836fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	CCDS285.1																																																																																				0.535	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		A	27105896	-	A	27105895	7	5	569	1	0	1	1	0	0	0	0	0	913	1175	41	0	5584	0	ARID1A	1	27105895	Frame_Shift_Ins	INS	-	TCGA-CW-6097-01A-11D-1669-08		27105895	222144726	1	30889											
OR2T6	254879	broad.mit.edu	37	1	248551308	248551308	+	Silent	SNP	T	T	C			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr1:248551308T>C	ENST00000355728.2	+	1	399	c.399T>C	c.(397-399)ccT>ccC	p.P133P		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCGCTATCCTGTCCTCATCA	0.567																																																0													86	83	84					1																	248551308		2203	4300	6503	SO:0001819	synonymous_variant	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.399T>C	1.37:g.248551308T>C			A6NE36	Silent	SNP	ENST00000355728.2	37	CCDS31114.1																																																																																				0.567	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		C	248551308	T	C	248551308	2	2	569	1	0	0	0	0	0	0	0	1	11031	1567	55	3		3	OR2T6	1	248551308	Silent	SNP	T	TCGA-CW-6097-01A-11D-1669-08	221445413	248551308	699313	2	30890											
GPR17	2840	broad.mit.edu	37	2	128408751	128408751	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr2:128408751G>A	ENST00000272644.3	+	3	600	c.526G>A	c.(526-528)Gca>Aca	p.A176T	GPR17_ENST00000393018.3_Missense_Mutation_p.A176T|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.A176T|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409254.1_5'Flank	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	176					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GCCCCTCTACGCACACCTGGC	0.642																																																0													108	96	100					2																	128408751		2203	4300	6503	SO:0001583	missense	2840				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"GPCR / Class A : Orphans"	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.526G>A	2.37:g.128408751G>A	ENSP00000272644:p.Ala176Thr		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	g	33	5.214551	0.95104	.	.	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.40756	1.02;1.02;1.02	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71951	-0.4437	10	0.54805	T	0.06	.	19.3366	0.94322	0.0:0.0:1.0:0.0	.	176	Q13304	GPR17_HUMAN	T	176	ENSP00000442982:A176T;ENSP00000272644:A176T;ENSP00000376741:A176T	ENSP00000272644:A176T	A	+	1	0	GPR17	128125221	1.000000	0.71417	0.968000	0.41197	0.960000	0.62799	9.827000	0.99397	2.573000	0.86826	0.655000	0.94253	GCA		0.642	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			A	128408751	G	A	128408751	3	1	569	1	0	0	0	0	1	0	0	0	6669	1087	38	1	532	1	GPR17	2	128408751	Missense_Mutation	SNP	G	TCGA-CW-6097-01A-11D-1669-08		128408751	114790622	3	30891											
POTEF	728378	broad.mit.edu	37	2	130832473	130832473	+	Missense_Mutation	SNP	C	C	T	rs201025840		TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr2:130832473C>T	ENST00000409914.2	-	17	2971	c.2572G>A	c.(2572-2574)Ggg>Agg	p.G858R	POTEF_ENST00000357462.5_Missense_Mutation_p.G858R	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	858	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGGGTGACCCCGTCACCAGAG	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		16851	0.0		0.001	False		,,,				2504	0.0															0													50	60	57					2																	130832473		2177	4259	6436	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2572G>A	2.37:g.130832473C>T	ENSP00000386786:p.Gly858Arg		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.717493	0.48622	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.12361	2.69;2.69	.	.	.	.	.	.	.	.	T	0.44705	0.1306	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.39035	-0.9633	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	858	A5A3E0	POTEF_HUMAN	R	858	ENSP00000350052:G858R;ENSP00000386786:G858R	ENSP00000350052:G858R	G	-	1	0	POTEF	130548943	1.000000	0.71417	0.088000	0.20740	0.089000	0.18198	5.244000	0.65400	0.119000	0.18210	0.121000	0.15741	GGG		0.607	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		T	130832473	C	T	130832473	3	4	569	1	0	0	0	0	1	0	0	0	12267	652	23	1	659	1	POTEF	2	130832473	Missense_Mutation	SNP	C	TCGA-CW-6097-01A-11D-1669-08	2423722	130832473	112366900	4	30892											
ABCA12	26154	broad.mit.edu	37	2	215820033	215820033	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr2:215820033C>A	ENST00000272895.7	-	43	6505	c.6286G>T	c.(6286-6288)Gga>Tga	p.G2096*	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.G1778*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2096					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGGCCATTCCTGTTTCATGG	0.418																																					Ovarian(66;664 1488 5121 34295)											0													94	84	87					2																	215820033		2203	4300	6503	SO:0001587	stop_gained	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6286G>T	2.37:g.215820033C>A	ENSP00000272895:p.Gly2096*		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	47	13.252699	0.99730	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.97	5.1	0.69264	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	15.4196	0.75000	0.0:0.9333:0.0:0.0667	.	.	.	.	X	2096;1778	.	ENSP00000272895:G2096X	G	-	1	0	ABCA12	215528278	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.961000	0.63681	1.540000	0.49301	-0.143000	0.13931	GGA		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		A	215820033	C	A	215820033	4	1	569	1	0	0	0	0	0	1	0	0	30	690	24	4	1545	4	ABCA12	2	215820033	Nonsense_Mutation	SNP	C	TCGA-CW-6097-01A-11D-1669-08	84987560	215820033	27379340	5	30893											
TM4SF20	79853	broad.mit.edu	37	2	228235653	228235653	+	Missense_Mutation	SNP	G	G	A	rs138005777		TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr2:228235653G>A	ENST00000304568.3	-	2	264	c.227C>T	c.(226-228)gCg>gTg	p.A76V		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A76V(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GTTGCAGCACGCTCTTTTTCT	0.428																																																1	Substitution - Missense(1)	lung(1)						G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	431	400	410		227	-2.6	0	2	dbSNP_134	410	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TM4SF20	NM_024795.3	64	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	76/230	228235653	4,13002	2203	4300	6503	SO:0001583	missense	79853			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.227C>T	2.37:g.228235653G>A	ENSP00000303028:p.Ala76Val		B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	ENST00000304568.3	37	CCDS2466.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926263	0.34002	4.54E-4	2.33E-4	ENSG00000168955	ENST00000304568	T	0.33216	1.42	6.17	-2.61	0.06171	.	0.960647	0.08635	N	0.916462	T	0.36193	0.0958	M	0.68317	2.08	0.09310	N	1	P	0.40794	0.729	P	0.45276	0.475	T	0.46133	-0.9213	10	0.46703	T	0.11	-0.9901	10.7669	0.46299	0.0:0.4896:0.2257:0.2847	.	76	Q53R12	T4S20_HUMAN	V	76	ENSP00000303028:A76V	ENSP00000303028:A76V	A	-	2	0	TM4SF20	227943897	0.004000	0.15560	0.035000	0.18076	0.007000	0.05969	-0.345000	0.07770	-0.108000	0.12066	-0.833000	0.03075	GCG		0.428	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		A	228235653	G	A	228235653	3	1	569	1	0	0	0	0	1	0	0	0	15974	1087	38	1	474	1	TM4SF20	2	228235653	Missense_Mutation	SNP	G	TCGA-CW-6097-01A-11D-1669-08	12415620	228235653	14963720	6	30894											
GIGYF2	26058	broad.mit.edu	37	2	233675977	233675977	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr2:233675977C>T	ENST00000409547.1	+	19	2233	c.1922C>T	c.(1921-1923)gCc>gTc	p.A641V	GIGYF2_ENST00000373563.4_Missense_Mutation_p.A641V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A635V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.A663V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A663V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A662V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A472V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	641	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAGGTTTTGGCCCAACAGCAG	0.428																																																0													133	117	123					2																	233675977		2203	4300	6503	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1922C>T	2.37:g.233675977C>T	ENSP00000386537:p.Ala641Val		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393974	0.42410	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.75938	-0.82;-0.83;-0.82;-0.83;-0.97;-0.83;-0.83;-0.98;-0.7	5.89	4.03	0.46877	.	0.125476	0.53938	D	0.000054	T	0.74680	0.3748	L	0.45581	1.43	0.40122	D	0.976616	D;D;B;D	0.56968	0.978;0.968;0.437;0.958	P;P;B;B	0.52066	0.689;0.477;0.115;0.423	T	0.75494	-0.3298	10	0.56958	D	0.05	-0.7447	11.4929	0.50391	0.1411:0.7234:0.1355:0.0	.	472;662;641;635	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	V	663;584;641;663;641;641;584;635;662;635;472	ENSP00000362667:A663V;ENSP00000362664:A641V;ENSP00000386765:A663V;ENSP00000386537:A641V;ENSP00000404195:A584V;ENSP00000387070:A635V;ENSP00000387170:A662V;ENSP00000410297:A635V;ENSP00000411505:A472V	ENSP00000362664:A641V	A	+	2	0	GIGYF2	233384221	1.000000	0.71417	0.840000	0.33206	0.263000	0.26337	3.541000	0.53618	0.762000	0.33152	0.561000	0.74099	GCC		0.428	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		T	233675977	C	T	233675977	3	4	569	1	0	0	0	0	1	0	0	0	6380	739	26	2	2050	2	GIGYF2	2	233675977	Missense_Mutation	SNP	C	TCGA-CW-6097-01A-11D-1669-08	5440324	233675977	9523396	7	30895											
SEPT2	4735	broad.mit.edu	37	2	242277165	242277165	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr2:242277165A>C	ENST00000391973.2	+	7	1082	c.554A>C	c.(553-555)gAc>gCc	p.D185A	SEPT2_ENST00000391971.2_Missense_Mutation_p.D185A|SEPT2_ENST00000360051.3_Missense_Mutation_p.D185A|SEPT2_ENST00000402092.2_Missense_Mutation_p.D185A|SEPT2_ENST00000401990.1_Missense_Mutation_p.D195A|SEPT2_ENST00000407971.1_Missense_Mutation_p.D145A	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	185	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GCAAAAGCTGACACTCTCACC	0.498																																																0													82	77	79					2																	242277165		2203	4300	6503	SO:0001583	missense	4735			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"Septins"	7729	protein-coding gene	gene with protein product		601506	"neural precursor cell expressed, developmentally down-regulated 5"	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.554A>C	2.37:g.242277165A>C	ENSP00000375834:p.Asp185Ala		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	CCDS2548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.514268|4.514268	0.85389|0.85389	.|.	.|.	ENSG00000168385|ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717|ENST00000457874	T;T;T;T;T;D;T;D|.	0.96041|.	-1.46;-1.46;-1.46;-1.46;-1.46;-3.89;-1.46;-3.89|.	5.23|5.23	4.05|4.05	0.47172|0.47172	.|.	0.049200|.	0.85682|.	D|.	0.000000|.	D|D	0.88009|0.88009	0.6322|0.6322	H|H	0.98682|0.98682	4.3|4.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.97110|.	1.0;0.985;0.995|.	D|D	0.90622|0.90622	0.4560|0.4560	10|5	0.87932|.	D|.	0|.	.|.	12.1992|12.1992	0.54315|0.54315	0.8571:0.1429:0.0:0.0|0.8571:0.1429:0.0:0.0	.|.	220;145;185|.	Q15019-2;B5MCX3;Q15019|.	.;.;SEPT2_HUMAN|.	A|P	185;145;185;185;195;145;185;220;40|157	ENSP00000375834:D185A;ENSP00000397195:D145A;ENSP00000353157:D185A;ENSP00000375832:D185A;ENSP00000385109:D195A;ENSP00000384525:D145A;ENSP00000385172:D185A;ENSP00000408296:D40A|.	ENSP00000353157:D185A|.	D|T	+|+	2|1	0|0	SEPT2|SEPT2	241925838|241925838	1.000000|1.000000	0.71417|0.71417	0.874000|0.874000	0.34290|0.34290	0.979000|0.979000	0.70002|0.70002	9.110000|9.110000	0.94302|0.94302	0.813000|0.813000	0.34350|0.34350	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.498	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		C	242277165	A	C	242277165	3	2	569	1	0	0	0	0	1	0	0	0	14070	275	10	5	576	5	SEPT2	2	242277165	Missense_Mutation	SNP	A	TCGA-CW-6097-01A-11D-1669-08	8601188	242277165	922208	8	30896											
BAP1	8314	broad.mit.edu	37	3	52437530	52437533	+	Frame_Shift_Del	DEL	ATGC	ATGC	-			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr3:52437530_52437533delATGC	ENST00000460680.1	-	13	2099_2102	c.1628_1631delGCAT	c.(1627-1632)tgcatafs	p.CI543fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.CI525fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTTGTAGCGTATGCAGTCAACACG	0.618			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0																																										SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1628_1631delGCAT	3.37:g.52437530_52437533delATGC	ENSP00000417132:p.Cys543fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																				0.618	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52437533	ATGC	-	52437530	7	5	569	1	0	1	0	1	0	0	0	0	1311	449	16	0	578	0	BAP1	3	52437530	Frame_Shift_Del	DEL	ATGC	TCGA-CW-6097-01A-11D-1669-08		52437530	145584900	9	30897											
CHST2	9435	broad.mit.edu	37	3	142840289	142840289	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr3:142840289T>G	ENST00000309575.3	+	2	2015	c.631T>G	c.(631-633)Tcc>Gcc	p.S211A		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	211					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GGACGCCGTTTCCCTGCAGGG	0.602																																																0													62	76	71					3																	142840289		2195	4295	6490	SO:0001583	missense	9435			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.631T>G	3.37:g.142840289T>G	ENSP00000307911:p.Ser211Ala		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075949	0.55646	.	.	ENSG00000175040	ENST00000309575	T	0.81247	-1.47	4.45	4.45	0.53987	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	T	0.77864	0.4194	L	0.46885	1.475	0.45025	D	0.998048	B	0.29301	0.241	B	0.40602	0.334	T	0.71192	-0.4665	10	0.12103	T	0.63	-19.7688	13.8553	0.63522	0.0:0.0:0.0:1.0	.	211	Q9Y4C5	CHST2_HUMAN	A	211	ENSP00000307911:S211A	ENSP00000307911:S211A	S	+	1	0	CHST2	144322979	0.994000	0.37717	0.966000	0.40874	0.987000	0.75469	3.347000	0.52200	1.859000	0.53934	0.334000	0.21626	TCC		0.602	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		G	142840289	T	G	142840289	3	3	569	1	0	0	0	0	1	0	0	0	3406	1783	62	5	633	5	CHST2	3	142840289	Missense_Mutation	SNP	T	TCGA-CW-6097-01A-11D-1669-08	90402759	142840289	55182141	10	30898											
GPR149	344758	broad.mit.edu	37	3	154056047	154056047	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr3:154056047G>A	ENST00000389740.2	-	4	1736	c.1637C>T	c.(1636-1638)gCc>gTc	p.A546V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	546					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATGGCAAGGGCATAACCGGA	0.438																																																0													92	92	92					3																	154056047		1883	4105	5988	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1637C>T	3.37:g.154056047G>A	ENSP00000374390:p.Ala546Val			Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884701	0.51908	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.5	2.65	0.31530	.	0.322692	0.32952	N	0.005442	T	0.51143	0.1657	L	0.53249	1.67	0.32996	D	0.52556	B	0.32573	0.376	B	0.34590	0.186	T	0.63216	-0.6687	9	0.87932	D	0	-3.8441	16.2794	0.82664	0.0:0.5031:0.4968:0.0	.	546	Q86SP6	GP149_HUMAN	V	546	.	ENSP00000374390:A546V	A	-	2	0	GPR149	155538741	0.999000	0.42202	0.332000	0.25469	0.916000	0.54674	2.132000	0.42083	0.251000	0.21505	0.655000	0.94253	GCC		0.438	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		A	154056047	G	A	154056047	3	1	569	1	0	0	0	0	1	0	0	0	6656	1203	42	2	562	2	GPR149	3	154056047	Missense_Mutation	SNP	G	TCGA-CW-6097-01A-11D-1669-08	11215758	154056047	43966383	11	30899											
SPATA16	83893	broad.mit.edu	37	3	172835272	172835272	+	Missense_Mutation	SNP	G	G	A	rs202106536		TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr3:172835272G>A	ENST00000351008.3	-	2	433	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	84					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TCTGCCTTCCGTTTAAAGGCT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		22879	0.0		0.001	False		,,,				2504	0.0															0													390	362	372					3																	172835272		2203	4300	6503	SO:0001583	missense	83893			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.250C>T	3.37:g.172835272G>A	ENSP00000341765:p.Arg84Trp		Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	CCDS3221.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.15	2.749245	0.49257	.	.	ENSG00000144962	ENST00000351008	T	0.17370	2.28	5.27	1.98	0.26296	.	0.274679	0.25698	N	0.028883	T	0.09113	0.0225	N	0.17082	0.46	0.32572	N	0.529682	B	0.28667	0.219	B	0.21360	0.034	T	0.14117	-1.0484	10	0.40728	T	0.16	-12.531	8.983	0.35977	0.0919:0.0:0.6251:0.283	.	84	Q9BXB7	SPT16_HUMAN	W	84	ENSP00000341765:R84W	ENSP00000341765:R84W	R	-	1	2	SPATA16	174317966	0.580000	0.26733	0.997000	0.53966	0.996000	0.88848	-0.266000	0.08631	0.148000	0.19059	0.650000	0.86243	CGG		0.398	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		A	172835272	G	A	172835272	3	1	569	1	0	0	0	0	1	0	0	0	15006	1144	40	1	1499	1	SPATA16	3	172835272	Missense_Mutation	SNP	G	TCGA-CW-6097-01A-11D-1669-08	18779225	172835272	25187158	12	30900											
RASGEF1B	153020	broad.mit.edu	37	4	82355860	82355860	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr4:82355860A>C	ENST00000264400.2	-	11	1284	c.1133T>G	c.(1132-1134)aTc>aGc	p.I378S	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.I336S|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.I377S	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	378	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						AATATCTTTGATTAAGAGACT	0.363																																																0													63	59	61					4																	82355860		2203	4300	6503	SO:0001583	missense	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1133T>G	4.37:g.82355860A>C	ENSP00000264400:p.Ile378Ser		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128842	0.77549	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.62	4.62	0.57501	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	M	0.73598	2.24	0.80722	D	1	D;D;D	0.58970	0.98;0.98;0.984	P;P;D	0.66497	0.907;0.865;0.944	T	0.59490	-0.7445	10	0.87932	D	0	.	13.8491	0.63485	1.0:0.0:0.0:0.0	.	336;377;378	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	S	377;378;336;223	ENSP00000425393:I377S;ENSP00000264400:I378S;ENSP00000338437:I336S;ENSP00000426929:I223S	ENSP00000264400:I378S	I	-	2	0	RASGEF1B	82574884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.685000	0.91246	1.954000	0.56735	0.477000	0.44152	ATC		0.363	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		C	82355860	A	C	82355860	3	2	569	1	0	0	0	0	1	0	0	0	13076	333	12	5	304	5	RASGEF1B	4	82355860	Missense_Mutation	SNP	A	TCGA-CW-6097-01A-11D-1669-08		82355860	108798416	13	30901											
BTNL9	153579	broad.mit.edu	37	5	180486849	180486849	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr5:180486849delT	ENST00000327705.9	+	11	1826	c.1595delT	c.(1594-1596)ctgfs	p.L532fs	BTNL9_ENST00000376842.3_Frame_Shift_Del_p.L533fs	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	532						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCCCGCCCTGGACTGGTGG	0.711																																																0													6	8	7					5																	180486849		2156	4247	6403	SO:0001589	frameshift_variant	153579			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1595delT	5.37:g.180486849delT	ENSP00000330200:p.Leu532fs		A6NL42|Q6P660|Q96DM5	Frame_Shift_Del	DEL	ENST00000327705.9	37	CCDS4460.2																																																																																				0.711	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		-	180486849	T	-	180486849	7	5	569	1	0	1	0	1	0	0	0	0	1570	1580	55	0	1633	0	BTNL9	5	180486849	Frame_Shift_Del	DEL	T	TCGA-CW-6097-01A-11D-1669-08		180486849	428411	14	30902											
EEF1A1	1915	broad.mit.edu	37	6	74228192	74228192	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr6:74228192C>A	ENST00000316292.9	-	5	1905	c.914G>T	c.(913-915)gGg>gTg	p.G305V	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.G305V|EEF1A1_ENST00000331523.2_Missense_Mutation_p.G305V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	305					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CACATTGTCCCCAGGAAGAGC	0.483											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													36	35	35					6																	74228192		2002	4169	6171	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.914G>T	6.37:g.74228192C>A	ENSP00000339063:p.Gly305Val	1151	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148587	0.78001	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.71817	-0.6;-0.6;-0.6	4.71	4.71	0.59529	Translation elongation factor EFTu/EF1A, domain 2 (2);Translation elongation/initiation factor/Ribosomal, beta-barrel (2);	0.000000	0.85682	U	0.000000	D	0.91492	0.7314	H	0.99964	5.085	0.80722	D	1	P;P;P;P	0.51057	0.941;0.941;0.941;0.941	P;P;P;D	0.63488	0.888;0.888;0.888;0.915	D	0.95600	0.8662	10	0.87932	D	0	.	18.0919	0.89478	0.0:1.0:0.0:0.0	.	305;305;305;305	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	V	305;303;305;305;284	ENSP00000339063:G305V;ENSP00000339053:G305V;ENSP00000330054:G305V	ENSP00000339053:G305V	G	-	2	0	EEF1A1	74284913	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.736000	0.68597	2.323000	0.78572	0.556000	0.70494	GGG		0.483	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		A	74228192	C	A	74228192	3	1	569	1	0	0	0	0	1	0	0	0	4925	623	22	4	486	4	EEF1A1	6	74228192	Missense_Mutation	SNP	C	TCGA-CW-6097-01A-11D-1669-08		74228192	96886875	15	30903											
GPNMB	10457	broad.mit.edu	37	7	23313757	23313757	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr7:23313757C>T	ENST00000381990.2	+	11	1794	c.1633C>T	c.(1633-1635)Ctc>Ttc	p.L545F	GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000258733.4_Missense_Mutation_p.L533F|GPNMB_ENST00000453162.2_Missense_Mutation_p.L487F|GPNMB_ENST00000539136.1_Missense_Mutation_p.L434F	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	545					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GAGTGTCTTTCTCAACCGTGC	0.403																																																0													88	89	89					7																	23313757		2203	4300	6503	SO:0001583	missense	10457			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1633C>T	7.37:g.23313757C>T	ENSP00000371420:p.Leu545Phe		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	1.644	-0.515665	0.04200	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.18016	2.3;2.27;2.28;2.24	6.07	1.15	0.20763	.	0.448765	0.20944	N	0.082871	T	0.09730	0.0239	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.19583	0.004;0.007;0.003;0.037	B;B;B;B	0.22386	0.009;0.006;0.006;0.039	T	0.24977	-1.0145	10	0.24483	T	0.36	-6.9588	0.7253	0.00948	0.1543:0.2326:0.2434:0.3697	.	434;487;545;533	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	F	533;580;545;428;434;487	ENSP00000258733:L533F;ENSP00000371420:L545F;ENSP00000445266:L434F;ENSP00000405586:L487F	ENSP00000258733:L533F	L	+	1	0	GPNMB	23280282	0.580000	0.26733	0.002000	0.10522	0.018000	0.09664	0.141000	0.16076	0.293000	0.22520	0.655000	0.94253	CTC		0.403	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		T	23313757	C	T	23313757	3	4	569	1	0	0	0	0	1	0	0	0	6622	913	32	2	1675	2	GPNMB	7	23313757	Missense_Mutation	SNP	C	TCGA-CW-6097-01A-11D-1669-08		23313757	135824906	16	30904											
TAC1	6863	broad.mit.edu	37	7	97363056	97363056	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr7:97363056G>C	ENST00000319273.5	+	3	442	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	TAC1_ENST00000346867.4_Missense_Mutation_p.E49Q|TAC1_ENST00000350485.4_Missense_Mutation_p.E49Q	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	49					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					GGAGCCCTTTGAGCATCTTCT	0.597																																																0													91	84	86					7																	97363056		2203	4300	6503	SO:0001583	missense	6863			M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"Endogenous ligands"	11517	protein-coding gene	gene with protein product	"substance K", "substance P", "neurokinin 1", "neurokinin 2", "neuromedin L", "neurokinin alpha", "neuropeptide K", "neuropeptide gamma", "preprotachykinin"	162320	"tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.145G>C	7.37:g.97363056G>C	ENSP00000321106:p.Glu49Gln		O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Missense_Mutation	SNP	ENST00000319273.5	37	CCDS5649.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705728	0.89018	.	.	ENSG00000006128	ENST00000319273;ENST00000350485;ENST00000346867	.	.	.	5.47	5.47	0.80525	.	0.095249	0.64402	D	0.000001	T	0.74344	0.3704	L	0.47716	1.5	0.44268	D	0.997123	D;D;D;D	0.71674	0.989;0.998;0.996;0.997	D;D;D;D	0.80764	0.979;0.994;0.986;0.99	T	0.75368	-0.3342	9	0.66056	D	0.02	-18.2334	17.1936	0.86887	0.0:0.0:1.0:0.0	.	49;49;49;49	P20366-4;P20366-3;P20366-2;P20366	.;.;.;TKN1_HUMAN	Q	49	.	ENSP00000321106:E49Q	E	+	1	0	TAC1	97200992	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.213000	0.72194	2.736000	0.93811	0.561000	0.74099	GAG		0.597	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182		C	97363056	G	C	97363056	3	2	569	1	0	0	0	0	1	0	0	0	15503	1291	45	4	151	4	TAC1	7	97363056	Missense_Mutation	SNP	G	TCGA-CW-6097-01A-11D-1669-08	74049299	97363056	61775607	17	30905											
SNTG1	54212	broad.mit.edu	37	8	51569552	51569552	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr8:51569552G>T	ENST00000522124.1	+	14	1594	c.933G>T	c.(931-933)agG>agT	p.R311S	SNTG1_ENST00000276467.5_Missense_Mutation_p.R311S|SNTG1_ENST00000518864.1_Missense_Mutation_p.R311S|SNTG1_ENST00000517473.1_Missense_Mutation_p.R311S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	311	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGGCCCTGAGGGGCTCATGTC	0.483																																																0													104	96	99					8																	51569552		2203	4300	6503	SO:0001583	missense	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.933G>T	8.37:g.51569552G>T	ENSP00000429842:p.Arg311Ser		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435683	0.25813	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.01	1.67	0.24075	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.63843	1.955	0.58432	D	0.999992	D;D	0.60160	0.971;0.987	P;D	0.66196	0.888;0.942	T	0.19910	-1.0291	10	0.37606	T	0.19	.	10.318	0.43749	0.282:0.0:0.718:0.0	.	311;311	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	S	311	ENSP00000429276:R311S;ENSP00000429842:R311S;ENSP00000431123:R311S;ENSP00000276467:R311S	ENSP00000276467:R311S	R	+	3	2	SNTG1	51732105	1.000000	0.71417	0.152000	0.22495	0.016000	0.09150	1.640000	0.37186	0.158000	0.19367	-1.094000	0.02160	AGG		0.483	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			T	51569552	G	T	51569552	3	4	569	1	0	0	0	0	1	0	0	0	14880	1223	43	4	979	4	SNTG1	8	51569552	Missense_Mutation	SNP	G	TCGA-CW-6097-01A-11D-1669-08		51569552	94794470	18	30906											
MUC2	4583	broad.mit.edu	37	11	1092904	1092904	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr11:1092904C>A	ENST00000441003.2	+	30	4750	c.4723C>A	c.(4723-4725)Ccc>Acc	p.P1575T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.P1576T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	aaccccaacacccaccggcac	0.642																																																0													102	143	129					11																	1092904		1946	3630	5576	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4723C>A	11.37:g.1092904C>A	ENSP00000415183:p.Pro1575Thr		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	2.217	-0.379205	0.05000	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12569	2.68;2.67	1.49	-1.15	0.09709	.	23.387500	0.00794	U	0.001367	T	0.05777	0.0151	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.25257	-1.0137	9	0.09084	T	0.74	.	3.3129	0.07022	0.4211:0.4141:0.0:0.1648	.	1575	E7EUV1	.	T	1575;1576	ENSP00000415183:P1575T;ENSP00000351956:P1576T	ENSP00000351956:P1576T	P	+	1	0	MUC2	1082904	0.000000	0.05858	0.003000	0.11579	0.097000	0.18754	-2.401000	0.01048	-0.076000	0.12775	0.121000	0.15741	CCC		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1092904	C	A	1092904	3	1	569	1	0	0	0	0	1	0	0	0	9977	507	18	4	4841	4	MUC2	11	1092904	Missense_Mutation	SNP	C	TCGA-CW-6097-01A-11D-1669-08		1092904	133913612	19	30907											
ARNTL	406	broad.mit.edu	37	11	13387083	13387083	+	Silent	SNP	C	C	A			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr11:13387083C>A	ENST00000403290.1	+	10	851	c.496C>A	c.(496-498)Cga>Aga	p.R166R	ARNTL_ENST00000389707.4_Silent_p.R166R|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000396441.3_Silent_p.R166R|ARNTL_ENST00000403482.3_Silent_p.R164R|ARNTL_ENST00000361003.4_Silent_p.R166R|ARNTL_ENST00000403510.3_Silent_p.R123R|ARNTL_ENST00000401424.1_Silent_p.R123R|ARNTL_ENST00000389708.3_Silent_p.R166R			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	166	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AGGATGTGACCGAGGGAAGAT	0.433																																																0													235	188	203					11																	13387083		2200	4294	6494	SO:0001819	synonymous_variant	406			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.496C>A	11.37:g.13387083C>A			A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Silent	SNP	ENST00000403290.1	37																																																																																					0.433	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		A	13387083	C	A	13387083	2	1	569	1	0	0	0	0	0	0	0	1	967	644	23	4		4	ARNTL	11	13387083	Silent	SNP	C	TCGA-CW-6097-01A-11D-1669-08	12294179	13387083	121619433	20	30908											
OR8K1	390157	broad.mit.edu	37	11	56113847	56113847	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr11:56113847G>T	ENST00000279783.2	+	1	427	c.333G>T	c.(331-333)gaG>gaT	p.E111D		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CATTCTTTGAGATTTTCATCA	0.408										HNSCC(65;0.19)																																						0													181	182	182					11																	56113847		2201	4296	6497	SO:0001583	missense	390157			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.333G>T	11.37:g.56113847G>T	ENSP00000279783:p.Glu111Asp		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094672	0.36952	.	.	ENSG00000150261	ENST00000279783	T	0.00551	6.65	5.0	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.561532	0.15800	N	0.244009	T	0.00241	0.0007	N	0.01048	-1.04	0.09310	N	1	B	0.24186	0.099	B	0.12837	0.008	T	0.43048	-0.9415	10	0.45353	T	0.12	-6.9851	8.1077	0.30896	0.0:0.2251:0.269:0.506	.	111	Q8NGG5	OR8K1_HUMAN	D	111	ENSP00000279783:E111D	ENSP00000279783:E111D	E	+	3	2	OR8K1	55870423	0.000000	0.05858	0.671000	0.29857	0.967000	0.64934	-0.374000	0.07484	0.450000	0.26774	0.549000	0.68633	GAG		0.408	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		T	56113847	G	T	56113847	3	4	569	1	0	0	0	0	1	0	0	0	11245	933	33	4	335	4	OR8K1	11	56113847	Missense_Mutation	SNP	G	TCGA-CW-6097-01A-11D-1669-08	42726764	56113847	78892669	21	30909											
VWF	7450	broad.mit.edu	37	12	6161870	6161870	+	Silent	SNP	C	C	T			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr12:6161870C>T	ENST00000261405.5	-	16	2279	c.2025G>A	c.(2023-2025)ccG>ccA	p.P675P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	675	TIL 2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATTCCTCATCCGGGTAAGAGA	0.622																																																0													50	49	49					12																	6161870		2203	4300	6503	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2025G>A	12.37:g.6161870C>T			Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.622	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		T	6161870	C	T	6161870	2	4	569	1	0	0	0	0	0	0	0	1	17251	639	23	1		1	VWF	12	6161870	Silent	SNP	C	TCGA-CW-6097-01A-11D-1669-08		6161870	127690025	22	30910											
OR6C75	390323	broad.mit.edu	37	12	55759683	55759683	+	Silent	SNP	A	A	G			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr12:55759683A>G	ENST00000343399.3	+	1	789	c.789A>G	c.(787-789)agA>agG	p.R263R		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTCTGCCAGAGAAAGGGTGA	0.423																																																0													91	80	84					12																	55759683		2203	4300	6503	SO:0001819	synonymous_variant	390323				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.789A>G	12.37:g.55759683A>G				Silent	SNP	ENST00000343399.3	37	CCDS31820.1																																																																																				0.423	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			G	55759683	A	G	55759683	2	3	569	1	0	0	0	0	0	0	0	1	11201	301	11	3		3	OR6C75	12	55759683	Silent	SNP	A	TCGA-CW-6097-01A-11D-1669-08	49597813	55759683	78092212	23	30911											
CDH5	1003	broad.mit.edu	37	16	66420782	66420782	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr16:66420782G>T	ENST00000341529.3	+	3	429	c.281G>T	c.(280-282)cGg>cTg	p.R94L	CDH5_ENST00000563425.2_Missense_Mutation_p.R94L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	94	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AAGGTCTTCCGGGTCGATGCA	0.517																																																0													88	76	80					16																	66420782		2202	4300	6502	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.281G>T	16.37:g.66420782G>T	ENSP00000344115:p.Arg94Leu		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774103|0.774103	0.16051|0.16051	.|.	.|.	ENSG00000179776|ENSG00000179776	ENST00000539262|ENST00000341529;ENST00000379531	.|T	.|0.55413	.|0.52	5.89|5.89	-8.52|-8.52	0.00920|0.00920	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.41073|0.41073	0.1143|0.1143	L|L	0.35341|0.35341	1.055|1.055	0.09310|0.09310	N|N	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.16722	.|0.016	T|T	0.17653|0.17653	-1.0362|-1.0362	6|9	0.87932|0.33940	D|T	0|0.23	.|.	19.9506|19.9506	0.97198|0.97198	0.8475:0.0:0.1525:0.0|0.8475:0.0:0.1525:0.0	.|.	.|94	.|P33151	.|CADH5_HUMAN	W|L	16|94	.|ENSP00000344115:R94L	ENSP00000437691:G16W|ENSP00000344115:R94L	G|R	+|+	1|2	0|0	CDH5|CDH5	64978283|64978283	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.140000|0.140000	0.21249|0.21249	-0.292000|-0.292000	0.08332|0.08332	-1.811000|-1.811000	0.01229|0.01229	-0.150000|-0.150000	0.13652|0.13652	GGG|CGG		0.517	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		T	66420782	G	T	66420782	3	4	569	1	0	0	0	0	1	0	0	0	3115	1116	39	4	287	4	CDH5	16	66420782	Missense_Mutation	SNP	G	TCGA-CW-6097-01A-11D-1669-08		66420782	23933971	24	30912											
ELMO3	79767	broad.mit.edu	37	16	67237658	67237658	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr16:67237658A>T	ENST00000360833.1	+	19	2206	c.2149A>T	c.(2149-2151)Atg>Ttg	p.M717L	ELMO3_ENST00000393997.2_Missense_Mutation_p.M734L|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Missense_Mutation_p.M568L			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	681					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCTGCTGACCATGGAGACCAA	0.642																																																0													36	43	41					16																	67237658		2124	4221	6345	SO:0001583	missense	79767				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"Engulfment and cell motility proteins"	17289	protein-coding gene	gene with protein product		606422	"engulfment and cell motility 3 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.2149A>T	16.37:g.67237658A>T	ENSP00000354077:p.Met717Leu		B4DV86|Q9H8A5	Missense_Mutation	SNP	ENST00000360833.1	37		.	.	.	.	.	.	.	.	.	.	A	17.68	3.450150	0.63290	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.16196	2.36;2.38	5.19	5.19	0.71726	.	0.039979	0.85682	D	0.000000	T	0.22360	0.0539	L	0.53617	1.68	0.80722	D	1	P;P;P	0.47409	0.71;0.895;0.895	B;P;P	0.44359	0.118;0.447;0.447	T	0.01512	-1.1336	10	0.66056	D	0.02	-27.1948	13.885	0.63704	1.0:0.0:0.0:0.0	.	681;717;734	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	L	717;734	ENSP00000354077:M717L;ENSP00000377566:M734L	ENSP00000354077:M717L	M	+	1	0	ELMO3	65795159	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.317000	0.96327	1.970000	0.57323	0.459000	0.35465	ATG		0.642	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		T	67237658	A	T	67237658	3	4	569	1	0	0	0	0	1	0	0	0	5069	217	8	5	2278	5	ELMO3	16	67237658	Missense_Mutation	SNP	A	TCGA-CW-6097-01A-11D-1669-08	816876	67237658	23117095	25	30913											
FTSJD1	55783	broad.mit.edu	37	16	71318686	71318686	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr16:71318686G>A	ENST00000338099.5	-	3	1474	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	CMTR2_ENST00000434935.2_Missense_Mutation_p.R380C			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	380					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TCAAATAGACGAATGTTTTCA	0.328																																																0													36	39	38					16																	71318686		2194	4296	6490	SO:0001583	missense	55783			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1138C>T	16.37:g.71318686G>A	ENSP00000337512:p.Arg380Cys		B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867348	0.51588	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.16196	2.36;2.36	5.95	4.99	0.66335	.	0.426470	0.26003	N	0.026928	T	0.18635	0.0447	L	0.56769	1.78	0.49051	D	0.99974	B	0.26445	0.149	B	0.17433	0.018	T	0.01940	-1.1243	10	0.49607	T	0.09	-1.7208	12.3497	0.55141	0.1403:0.0:0.8597:0.0	.	380	Q8IYT2	FTSJ1_HUMAN	C	380	ENSP00000337512:R380C;ENSP00000411148:R380C	ENSP00000337512:R380C	R	-	1	0	FTSJD1	69876187	0.999000	0.42202	1.000000	0.80357	0.921000	0.55340	1.613000	0.36900	1.530000	0.49136	0.491000	0.48974	CGT		0.328	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		A	71318686	G	A	71318686	3	1	569	1	0	0	0	0	1	0	0	0	6092	1058	37	1	1178	1	FTSJD1	16	71318686	Missense_Mutation	SNP	G	TCGA-CW-6097-01A-11D-1669-08	4081028	71318686	19036067	26	30914											
MYH8	4626	broad.mit.edu	37	17	10297708	10297708	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr17:10297708G>A	ENST00000403437.2	-	35	5118	c.5024C>T	c.(5023-5025)gCa>gTa	p.A1675V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1675					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCCACAATTGCCAGCTGTTC	0.542									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													86	80	82					17																	10297708		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5024C>T	17.37:g.10297708G>A	ENSP00000384330:p.Ala1675Val		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592334	0.46214	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79141	-1.24	5.06	4.09	0.47781	Myosin tail (1);	0.000000	0.41396	U	0.000884	T	0.79857	0.4518	M	0.82517	2.595	0.49051	D	0.999743	B	0.15719	0.014	B	0.24006	0.05	T	0.79205	-0.1899	10	0.62326	D	0.03	.	13.6992	0.62597	0.0743:0.0:0.9257:0.0	.	1675	P13535	MYH8_HUMAN	V	1675	ENSP00000384330:A1675V	ENSP00000252173:A1675V	A	-	2	0	MYH8	10238433	1.000000	0.71417	0.837000	0.33122	0.016000	0.09150	6.542000	0.73869	1.360000	0.45960	0.650000	0.86243	GCA		0.542	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		A	10297708	G	A	10297708	3	1	569	1	0	0	0	0	1	0	0	0	10043	1319	46	2	813	2	MYH8	17	10297708	Missense_Mutation	SNP	G	TCGA-CW-6097-01A-11D-1669-08		10297708	70897502	27	30915											
TICAM1	148022	broad.mit.edu	37	19	4816506	4816506	+	Silent	SNP	C	C	A			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr19:4816506C>A	ENST00000248244.5	-	2	2113	c.1884G>T	c.(1882-1884)ccG>ccT	p.P628P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	628	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGGCGGCTGCGGGCACCCCG	0.711																																																0													14	14	14					19																	4816506		2192	4280	6472	SO:0001819	synonymous_variant	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1884G>T	19.37:g.4816506C>A			B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	ENST00000248244.5	37	CCDS12136.1																																																																																				0.711	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		A	4816506	C	A	4816506	2	1	569	1	0	0	0	0	0	0	0	1	15897	755	27	4		4	TICAM1	19	4816506	Silent	SNP	C	TCGA-CW-6097-01A-11D-1669-08		4816506	54312477	28	30916											
TMEM190	147744	broad.mit.edu	37	19	55889522	55889522	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr19:55889522A>G	ENST00000291934.3	+	5	503	c.485A>G	c.(484-486)gAa>gGa	p.E162G	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	162					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		accgagggggaagggacggag	0.637																																																0													42	45	44					19																	55889522		2202	4300	6502	SO:0001583	missense	147744			AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.485A>G	19.37:g.55889522A>G	ENSP00000291934:p.Glu162Gly		A6NJL5	Missense_Mutation	SNP	ENST00000291934.3	37	CCDS33113.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344692	0.24426	.	.	ENSG00000160472	ENST00000291934	.	.	.	2.75	2.75	0.32379	.	0.650998	0.11828	U	0.525489	T	0.40423	0.1116	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.15636	-1.0430	9	0.31617	T	0.26	-16.3833	7.3147	0.26493	1.0:0.0:0.0:0.0	.	162	Q8WZ59	TM190_HUMAN	G	162	.	ENSP00000291934:E162G	E	+	2	0	TMEM190	60581334	0.616000	0.27035	0.012000	0.15200	0.053000	0.15095	1.266000	0.33039	1.499000	0.48617	0.260000	0.18958	GAA		0.637	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453042.1	NM_139172		G	55889522	A	G	55889522	3	3	569	1	0	0	0	0	1	0	0	0	16119	246	9	3	503	3	TMEM190	19	55889522	Missense_Mutation	SNP	A	TCGA-CW-6097-01A-11D-1669-08	51073016	55889522	3239461	29	30917											
U2AF2	11338	broad.mit.edu	37	19	56185302	56185302	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr19:56185302delC	ENST00000308924.4	+	12	1336	c.1296delC	c.(1294-1296)atcfs	p.I432fs	EPN1_ENST00000270460.6_5'Flank|CTD-2537I9.12_ENST00000589456.1_RNA|EPN1_ENST00000411543.2_5'Flank|U2AF2_ENST00000450554.2_Frame_Shift_Del_p.I428fs|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000590551.1_Frame_Shift_Del_p.I264fs|CTD-2537I9.12_ENST00000585940.1_RNA|EPN1_ENST00000085079.7_5'Flank			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	432	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCCCACAGATCTTTGTGGAGT	0.567																																																0													96	85	89					19																	56185302		2203	4300	6503	SO:0001589	frameshift_variant	11338			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1296delC	19.37:g.56185302delC	ENSP00000307863:p.Ile432fs		Q96HC5	Frame_Shift_Del	DEL	ENST00000308924.4	37	CCDS12933.1																																																																																				0.567	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		-	56185302	C	-	56185302	7	5	569	1	0	1	0	1	0	0	0	0	16828	903	32	0	1342	0	U2AF2	19	56185302	Frame_Shift_Del	DEL	C	TCGA-CW-6097-01A-11D-1669-08	295780	56185302	2943681	30	30918											
PRIC285	85441	broad.mit.edu	37	20	62194306	62194306	+	Missense_Mutation	SNP	C	C	T	rs530022156		TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chr20:62194306C>T	ENST00000467148.1	-	8	5938	c.5869G>A	c.(5869-5871)Gcg>Acg	p.A1957T	HELZ2_ENST00000427522.2_Missense_Mutation_p.A1388T	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1957					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCGGCAACCGCGCCGGTGGCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		16689	0.001		0.0	False		,,,				2504	0.0															0													14	11	12					20																	62194306		2151	4261	6412	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5869G>A	20.37:g.62194306C>T	ENSP00000417401:p.Ala1957Thr		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068884	0.76301	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.85702	-2.02;-1.85	4.75	4.75	0.60458	.	0.181457	0.46145	D	0.000302	D	0.91250	0.7242	M	0.71581	2.175	0.54753	D	0.999985	D;D	0.76494	0.998;0.999	P;D	0.65140	0.856;0.932	D	0.92450	0.5969	10	0.72032	D	0.01	-22.0306	17.736	0.88392	0.0:1.0:0.0:0.0	.	1957;1388	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	T	1388;1957	ENSP00000393257:A1388T;ENSP00000417401:A1957T	ENSP00000393257:A1388T	A	-	1	0	RP4-697K14.7	61664750	1.000000	0.71417	0.005000	0.12908	0.003000	0.03518	5.323000	0.65858	2.192000	0.70111	0.491000	0.48974	GCG		0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		T	62194306	C	T	62194306	3	4	569	1	0	0	0	0	1	0	0	0	12490	768	27	1	2128	1	PRIC285	20	62194306	Missense_Mutation	SNP	C	TCGA-CW-6097-01A-11D-1669-08		62194306	831214	31	30919											
TRO	7216	broad.mit.edu	37	X	54955458	54955458	+	Silent	SNP	C	C	T			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chrX:54955458C>T	ENST00000173898.7	+	12	2413	c.2301C>T	c.(2299-2301)gcC>gcT	p.A767A	TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.A370A|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Silent_p.A298A|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	767	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCACCAGTGCCAGCTTCAGCA	0.542																																																0													63	66	65					X																	54955458		2141	4234	6375	SO:0001819	synonymous_variant	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2301C>T	X.37:g.54955458C>T			B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	CCDS43959.1																																																																																				0.542	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		T	54955458	C	T	54955458	2	4	569	1	0	0	0	0	0	0	0	1	16579	581	21	2		2	TRO	23	54955458	Silent	SNP	C	TCGA-CW-6097-01A-11D-1669-08		54955458	100315102	32	30920											
GAB3	139716	broad.mit.edu	37	X	153927719	153927719	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6097-01A-11D-1669-08	TCGA-CW-6097-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533	c3a6d147-8cb9-4088-b340-278ccad97903	g.chrX:153927719G>A	ENST00000369575.3	-	6	1223	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.P399S	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	398					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGCCTGGGGGCTCATGGGC	0.552																																																0													79	73	75					X																	153927719		2203	4300	6503	SO:0001583	missense	139716			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1192C>T	X.37:g.153927719G>A	ENSP00000358588:p.Pro398Ser		A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912474	0.72983	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.38722	1.12;1.12;1.12	5.85	5.85	0.93711	.	0.288312	0.38381	N	0.001716	T	0.65933	0.2739	M	0.74881	2.28	0.52099	D	0.999949	D;D;D	0.89917	1.0;0.984;1.0	D;P;D	0.85130	0.997;0.779;0.997	T	0.69087	-0.5238	10	0.87932	D	0	-6.9968	16.3807	0.83460	0.0:0.0:1.0:0.0	.	399;399;398	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	S	398;399;399	ENSP00000358588:P398S;ENSP00000358581:P399S;ENSP00000399588:P399S	ENSP00000358581:P399S	P	-	1	0	GAB3	153580913	1.000000	0.71417	0.990000	0.47175	0.566000	0.35808	6.526000	0.73799	2.474000	0.83562	0.529000	0.55759	CCC		0.552	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		A	153927719	G	A	153927719	3	1	569	1	0	0	0	0	1	0	0	0	6152	1232	43	2	588	2	GAB3	23	153927719	Missense_Mutation	SNP	G	TCGA-CW-6097-01A-11D-1669-08	98972261	153927719	1342841	33	30921											
THAP3	55735	broad.mit.edu;ucsc.edu	37	1	6694078	6694079	+	IGR	DEL	AG	AG	-			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr1:6694078_6694079delAG	ENST00000377577.5	-	0	3311				DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000377627.3_Splice_Site	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11							extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TTTATTTCTCAGGCAATGTTGT	0.401																																																0																																										SO:0001628	intergenic_variant	90326			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443		1.37:g.6694078_6694079delAG			Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Splice_Site	DEL	ENST00000377577.5	37	CCDS87.1																																																																																				0.401	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		-	6694079	AG	-	6694078	6	5	570	0	1	1	0	1	0	0	0	0	15850	202	7	0		0	THAP3	1	6694078	IGR	DEL	AG	TCGA-CZ-4853-01A-01D-1429-08		6694078	242556543	1	30922											
EIF4G3	8672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21186921	21186921	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr1:21186921T>A	ENST00000264211.8	-	18	3227	c.3033A>T	c.(3031-3033)caA>caT	p.Q1011H	EIF4G3_ENST00000536266.1_Missense_Mutation_p.Q615H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.Q501H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.Q731H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q1017H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q1011H|EIF4G3_ENST00000602326.1_Missense_Mutation_p.Q1017H	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1011	eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.Q1017H(1)|p.Q1011H(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGACCTTCCTTTGCTCTTCTT	0.423																																																2	Substitution - Missense(2)	kidney(2)											243	225	231					1																	21186921		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3033A>T	1.37:g.21186921T>A	ENSP00000264211:p.Gln1011His		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342977	0.41498	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.08546	3.6;3.6;3.44;3.08;3.6;3.3	5.51	-1.38	0.09027	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	N	0.16307	0.4	0.80722	D	1	D;B;B;D;D	0.76494	0.999;0.093;0.285;0.998;0.989	D;B;B;D;P	0.85130	0.997;0.042;0.091;0.993;0.897	T	0.01290	-1.1394	10	0.17832	T	0.49	-11.6486	13.3598	0.60648	0.0:0.6349:0.0:0.3651	.	1206;731;615;1017;1011	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	H	1011;1207;1011;731;501;1017;615	ENSP00000264211:Q1011H;ENSP00000383274:Q1011H;ENSP00000364071:Q731H;ENSP00000442010:Q501H;ENSP00000364073:Q1017H;ENSP00000444693:Q615H	ENSP00000264211:Q1011H	Q	-	3	2	EIF4G3	21059508	0.965000	0.33210	0.984000	0.44739	0.983000	0.72400	0.160000	0.16462	-0.507000	0.06549	0.528000	0.53228	CAA		0.423	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		A	21186921	T	A	21186921	3	1	570	1	0	0	0	0	1	0	0	0	5040	1838	64	5	1780	5	EIF4G3	1	21186921	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	14492843	21186921	228063700	2	30923											
MYCL1	4610	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40363241	40363241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr1:40363241G>A	ENST00000372816.2	-	2	1345	c.898C>T	c.(898-900)Cga>Tga	p.R300*	MYCL_ENST00000397332.2_Nonsense_Mutation_p.R330*|RP1-118J21.5_ENST00000418255.1_RNA			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	300	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R330*(1)									GCCAAGAATCGCGAACGCAGG	0.567																																																1	Substitution - Nonsense(1)	kidney(1)											76	76	76					1																	40363241		2203	4300	6503	SO:0001587	stop_gained	4610				CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"Basic helix-loop-helix proteins"	7555	protein-coding gene	gene with protein product	"l-myc protein", "myc-related gene from lung cancer", "oncogene lmyc"	164850	"v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.898C>T	1.37:g.40363241G>A	ENSP00000361903:p.Arg300*		A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Nonsense_Mutation	SNP	ENST00000372816.2	37	CCDS30682.1	.	.	.	.	.	.	.	.	.	.	G	39	7.826870	0.98510	.	.	ENSG00000116990	ENST00000397332;ENST00000372816	.	.	.	5.75	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2172	14.2989	0.66334	0.0:0.0:0.6875:0.3125	.	.	.	.	X	330;300	.	ENSP00000361903:R300X	R	-	1	2	MYCL1	40135828	0.993000	0.37304	0.626000	0.29213	0.963000	0.63663	2.115000	0.41921	0.635000	0.30488	0.655000	0.94253	CGA		0.567	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082		A	40363241	G	A	40363241	4	1	570	1	0	0	0	0	0	1	0	0	10022	1095	38	1	200	1	MYCL1	1	40363241	Nonsense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	19176320	40363241	208887380	3	30924											
CACHD1	57685	hgsc.bcm.edu;ucsc.edu	37	1	65098290	65098290	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr1:65098290delA	ENST00000371073.2	+	6	653	c.653delA	c.(652-654)tacfs	p.Y218fs	CACHD1_ENST00000290039.5_Frame_Shift_Del_p.Y167fs|CACHD1_ENST00000495994.1_Intron			Q5VU97	CAHD1_HUMAN	cache domain containing 1	218					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCCATCTACGTCTCTACA	0.527																																																0													99	101	100					1																	65098290		2016	4172	6188	SO:0001589	frameshift_variant	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.653delA	1.37:g.65098290delA	ENSP00000360113:p.Tyr218fs		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Frame_Shift_Del	DEL	ENST00000371073.2	37																																																																																					0.527	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		-	65098290	A	-	65098290	7	5	570	1	0	1	0	1	0	0	0	0	2539	391	14	0	522	0	CACHD1	1	65098290	Frame_Shift_Del	DEL	A	TCGA-CZ-4853-01A-01D-1429-08	24735049	65098290	184152331	4	30925											
CELSR2	1952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109793167	109793167	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr1:109793167C>T	ENST00000271332.3	+	1	527	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	156					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L156F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGCCCCCGGGCTCAGGGCAGG	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)											1	Substitution - Missense(1)	kidney(1)											37	49	45					1																	109793167		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.466C>T	1.37:g.109793167C>T	ENSP00000271332:p.Leu156Phe		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	1.554	-0.538453	0.04082	.	.	ENSG00000143126	ENST00000271332	T	0.68331	-0.32	5.52	2.39	0.29439	.	.	.	.	.	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	9	0.09843	T	0.71	.	2.428	0.04464	0.1556:0.5239:0.1508:0.1697	.	156	Q9HCU4	CELR2_HUMAN	F	156	ENSP00000271332:L156F	ENSP00000271332:L156F	L	+	1	0	CELSR2	109594690	0.000000	0.05858	0.011000	0.14972	0.054000	0.15201	0.114000	0.15520	0.678000	0.31325	-0.320000	0.08662	CTC		0.637	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		T	109793167	C	T	109793167	3	4	570	1	0	0	0	0	1	0	0	0	3224	797	28	2	468	2	CELSR2	1	109793167	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	44694877	109793167	139457454	5	30926											
NBPF14	25832	broad.mit.edu	37	1	148017563	148017563	+	Silent	SNP	A	A	G			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr1:148017563A>G	ENST00000369219.1	-	6	736	c.720T>C	c.(718-720)tcT>tcC	p.S240S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	240	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S240S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGCTGCTGTAAGACTTGTACG	0.478																																																1	Substitution - coding silent(1)	kidney(1)											40	41	41					1																	148017563		1500	2697	4197	SO:0001819	synonymous_variant	0			AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.720T>C	1.37:g.148017563A>G			Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	a	1.069	-0.670594	0.03403	.	.	ENSG00000122497	ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.14313	0.0346	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27536	-1.0071	2	.	.	.	.	.	.	.	.	.	.	.	P	246;251;251;251;251;251;251;251	.	.	L	-	2	0	NBPF14	146484187	0.054000	0.20591	0.004000	0.12327	0.004000	0.04260	0.794000	0.26958	0.356000	0.24157	0.351000	0.21866	CTT		0.478	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		G	148017563	A	G	148017563	2	3	570	1	0	0	0	0	0	0	0	1	10196	59	3	3		3	NBPF14	1	148017563	Silent	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	38224396	148017563	101233058	6	30927											
MTMR11	10903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	149901785	149901785	+	Silent	SNP	G	G	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr1:149901785G>C	ENST00000439741.2	-	16	1921	c.1671C>G	c.(1669-1671)ccC>ccG	p.P557P	MTMR11_ENST00000369140.3_Silent_p.P485P|MTMR11_ENST00000361405.6_3'UTR|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	557	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.P485P(1)|p.P557P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAGAACTGGGGGGTCCAGGAA	0.522																																																2	Substitution - coding silent(2)	kidney(2)											43	47	46					1																	149901785		2203	4300	6503	SO:0001819	synonymous_variant	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1671C>G	1.37:g.149901785G>C			B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	CCDS53360.1																																																																																				0.522	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		C	149901785	G	C	149901785	2	2	570	1	0	0	0	0	0	0	0	1	9942	1219	43	4		4	MTMR11	1	149901785	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	1884222	149901785	99348836	7	30928											
SPTA1	6708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158646048	158646048	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr1:158646048A>C	ENST00000368147.4	-	8	1175	c.995T>G	c.(994-996)cTt>cGt	p.L332R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	332					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L332R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGATGGGAAAGTGTCAGCTT	0.473																																																1	Substitution - Missense(1)	kidney(1)											217	203	207					1																	158646048		1926	4140	6066	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.995T>G	1.37:g.158646048A>C	ENSP00000357129:p.Leu332Arg		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	4.255	0.046312	0.08243	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.32753	1.44;1.44	5.24	2.87	0.33458	.	1.377560	0.05647	N	0.584494	T	0.08492	0.0211	L	0.38175	1.15	0.09310	N	1	B	0.16603	0.018	B	0.25759	0.063	T	0.36962	-0.9726	10	0.18276	T	0.48	.	4.4158	0.11455	0.4962:0.0:0.0846:0.4192	.	332	P02549	SPTA1_HUMAN	R	332	ENSP00000357130:L332R;ENSP00000357129:L332R	ENSP00000357129:L332R	L	-	2	0	SPTA1	156912672	0.989000	0.36119	0.031000	0.17742	0.449000	0.32228	2.250000	0.43178	0.416000	0.25844	0.533000	0.62120	CTT		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		C	158646048	A	C	158646048	3	2	570	1	0	0	0	0	1	0	0	0	15121	72	3	5	6444	5	SPTA1	1	158646048	Missense_Mutation	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	8744263	158646048	90604573	8	30929											
IPO9	55705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201843415	201843415	+	Silent	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr1:201843415G>A	ENST00000361565.4	+	21	2817	c.2748G>A	c.(2746-2748)aaG>aaA	p.K916K		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	916				K -> R (in Ref. 4; BAC11173). {ECO:0000305}.	protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.K916K(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGCTGGTCAAGATCCTAAAGC	0.522																																																1	Substitution - coding silent(1)	kidney(1)											139	132	134					1																	201843415		2203	4300	6503	SO:0001819	synonymous_variant	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2748G>A	1.37:g.201843415G>A			B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	ENST00000361565.4	37	CCDS1415.1																																																																																				0.522	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		A	201843415	G	A	201843415	2	1	570	1	0	0	0	0	0	0	0	1	7801	933	33	2		2	IPO9	1	201843415	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	43197367	201843415	47407206	9	30930											
CR1	1378	hgsc.bcm.edu;ucsc.edu	37	1	207753683	207753683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr1:207753683delG	ENST00000367049.4	+	30	5035	c.5035delG	c.(5035-5037)ggcfs	p.G1679fs	CR1_ENST00000367052.1_Frame_Shift_Del_p.G1229fs|CR1_ENST00000400960.2_Frame_Shift_Del_p.G1229fs|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Frame_Shift_Del_p.G1229fs|CR1_ENST00000367053.1_Frame_Shift_Del_p.G1229fs	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1229	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGTGAGCCTGGCTATGACCT	0.587																																																0													120	124	122					1																	207753683		1977	4172	6149	SO:0001589	frameshift_variant	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5035delG	1.37:g.207753683delG	ENSP00000356016:p.Gly1679fs		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Frame_Shift_Del	DEL	ENST00000367049.4	37	CCDS44308.1																																																																																				0.587	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		-	207753683	G	-	207753683	7	5	570	1	0	1	0	1	0	0	0	0	3842	1348	47	0	5153	0	CR1	1	207753683	Frame_Shift_Del	DEL	G	TCGA-CZ-4853-01A-01D-1429-08	5910268	207753683	41496938	10	30931											
RAD51AP2	729475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	17697415	17697415	+	Silent	SNP	T	T	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:17697415T>A	ENST00000399080.2	-	1	2291	c.2268A>T	c.(2266-2268)gtA>gtT	p.V756V		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	756								p.V756V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGCATATTTACTTCATAAA	0.323																																																1	Substitution - coding silent(1)	kidney(1)											98	90	93					2																	17697415		1820	4078	5898	SO:0001819	synonymous_variant	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2268A>T	2.37:g.17697415T>A				Silent	SNP	ENST00000399080.2	37	CCDS42656.1																																																																																				0.323	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		A	17697415	T	A	17697415	2	1	570	1	0	0	0	0	0	0	0	1	12993	1741	61	5		5	RAD51AP2	2	17697415	Silent	SNP	T	TCGA-CZ-4853-01A-01D-1429-08		17697415	225501958	11	30932											
EMILIN1	11117	broad.mit.edu;hgsc.bcm.edu	37	2	27305278	27305278	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:27305278C>A	ENST00000380320.4	+	4	1338	c.839C>A	c.(838-840)gCc>gAc	p.A280D		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	280					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.A280D(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ccagccccagcctcagccccT	0.701																																																1	Substitution - Missense(1)	kidney(1)											8	10	9					2																	27305278		2123	4182	6305	SO:0001583	missense	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.839C>A	2.37:g.27305278C>A	ENSP00000369677:p.Ala280Asp		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	0.614	-0.823980	0.02755	.	.	ENSG00000138080	ENST00000380320	T	0.17054	2.3	5.11	1.5	0.22942	.	0.955627	0.08687	N	0.908469	T	0.07683	0.0193	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42783	-0.9431	10	0.10902	T	0.67	-0.1483	2.4349	0.04480	0.264:0.4752:0.1384:0.1223	.	280	Q9Y6C2	EMIL1_HUMAN	D	280	ENSP00000369677:A280D	ENSP00000369677:A280D	A	+	2	0	EMILIN1	27158782	0.024000	0.19004	0.165000	0.22776	0.008000	0.06430	0.653000	0.24902	0.417000	0.25871	0.462000	0.41574	GCC		0.701	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		A	27305278	C	A	27305278	3	1	570	1	0	0	0	0	1	0	0	0	5095	739	26	4	853	4	EMILIN1	2	27305278	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	9607863	27305278	215894095	12	30933											
DCTN1	1639	broad.mit.edu;hgsc.bcm.edu	37	2	74598753	74598753	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:74598753G>T	ENST00000361874.3	-	8	873	c.556C>A	c.(556-558)Ccg>Acg	p.P186T	DCTN1_ENST00000409567.3_Missense_Mutation_p.P166T|DCTN1_ENST00000409240.1_Missense_Mutation_p.P149T|DCTN1_ENST00000407639.2_Missense_Mutation_p.P52T|DCTN1_ENST00000409868.1_Missense_Mutation_p.P169T|DCTN1_ENST00000394003.3_Missense_Mutation_p.P179T|DCTN1_ENST00000409438.1_Missense_Mutation_p.P52T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	186	Ser-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.P186T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTCTGAGCCGGGGTGCTGGGC	0.687																																																1	Substitution - Missense(1)	kidney(1)											20	22	21					2																	74598753		2201	4296	6497	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.556C>A	2.37:g.74598753G>T	ENSP00000354791:p.Pro186Thr		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223832	0.95139	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.79454	-0.87;-1.14;-0.93;-0.93;-1.27;-1.08;-1.06	5.39	5.39	0.77823	.	0.000000	0.42964	D	0.000631	T	0.80696	0.4672	N	0.24115	0.695	0.80722	D	1	P;B;D;P;D;D	0.89917	0.717;0.083;1.0;0.544;1.0;1.0	B;B;D;B;D;D	0.87578	0.211;0.02;0.992;0.175;0.998;0.996	T	0.76820	-0.2818	10	0.23302	T	0.38	-4.6103	18.0832	0.89449	0.0:0.0:1.0:0.0	.	166;149;186;179;52;52	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	T	186;179;169;52;52;149;169;166	ENSP00000354791:P186T;ENSP00000377571:P179T;ENSP00000384844:P52T;ENSP00000387270:P52T;ENSP00000386406:P149T;ENSP00000387327:P169T;ENSP00000386843:P166T	ENSP00000354791:P186T	P	-	1	0	DCTN1	74452261	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.928000	0.92853	2.795000	0.96236	0.655000	0.94253	CCG		0.687	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		T	74598753	G	T	74598753	3	4	570	1	0	0	0	0	1	0	0	0	4308	1232	43	4	3380	4	DCTN1	2	74598753	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	47293475	74598753	168600620	13	30934											
CKAP2L	150468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	113514506	113514506	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:113514506T>C	ENST00000302450.6	-	4	520	c.442A>G	c.(442-444)Aaa>Gaa	p.K148E	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	148						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K148E(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTTGTAGTTTTCAATTGCTCT	0.358																																																1	Substitution - Missense(1)	kidney(1)											82	87	85					2																	113514506		2203	4300	6503	SO:0001583	missense	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.442A>G	2.37:g.113514506T>C	ENSP00000305204:p.Lys148Glu		A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.801715	0.50315	.	.	ENSG00000169607	ENST00000302450	T	0.07908	3.15	5.15	2.73	0.32206	.	0.171809	0.37623	N	0.002006	T	0.10252	0.0251	M	0.72118	2.19	0.20196	N	0.999927	B	0.19935	0.04	B	0.23018	0.043	T	0.21895	-1.0232	10	0.38643	T	0.18	-15.268	6.5507	0.22431	0.0:0.2145:0.0:0.7855	.	148	Q8IYA6	CKP2L_HUMAN	E	148	ENSP00000305204:K148E	ENSP00000305204:K148E	K	-	1	0	CKAP2L	113230977	0.004000	0.15560	0.009000	0.14445	0.022000	0.10575	0.534000	0.23098	0.472000	0.27344	0.477000	0.44152	AAA		0.358	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		C	113514506	T	C	113514506	3	2	570	1	0	0	0	0	1	0	0	0	3445	1792	62	3	1819	3	CKAP2L	2	113514506	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	38915753	113514506	129684867	14	30935											
GLI2	2736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	121748151	121748151	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:121748151C>G	ENST00000452319.1	+	14	4721	c.4661C>G	c.(4660-4662)cCc>cGc	p.P1554R	GLI2_ENST00000361492.4_Missense_Mutation_p.P1554R|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2									p.P1554R(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTGACCCTGCCCTCCATCCCC	0.617																																																1	Substitution - Missense(1)	kidney(1)											102	116	111					2																	121748151		2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4661C>G	2.37:g.121748151C>G	ENSP00000390436:p.Pro1554Arg			Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185014	0.78677	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.15834	2.39;2.39	4.98	4.98	0.66077	.	0.185612	0.47852	D	0.000202	T	0.45196	0.1330	M	0.79258	2.445	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72075	0.916;0.976	T	0.47459	-0.9116	10	0.87932	D	0	.	18.4555	0.90718	0.0:1.0:0.0:0.0	.	1554;1209	P10070;P10070-2	GLI2_HUMAN;.	R	1554	ENSP00000390436:P1554R;ENSP00000354586:P1554R	ENSP00000354586:P1554R	P	+	2	0	GLI2	121464621	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.651000	0.83577	2.581000	0.87130	0.555000	0.69702	CCC		0.617	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		G	121748151	C	G	121748151	3	3	570	1	0	0	0	0	1	0	0	0	6440	623	22	4	4711	4	GLI2	2	121748151	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	8233645	121748151	121451222	15	30936											
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170081963	170081963	+	Splice_Site	SNP	C	C	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:170081963C>A	ENST00000263816.3	-	33	5680	c.5395G>T	c.(5395-5397)Ggt>Tgt	p.G1799C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1799					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G1799C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TGAATTTCACCCTGGAAAGAA	0.473																																																1	Substitution - Missense(1)	kidney(1)											86	85	86					2																	170081963		2203	4300	6503	SO:0001630	splice_region_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5395-1G>T	2.37:g.170081963C>A			O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915740	0.92178	.	.	ENSG00000081479	ENST00000263816	D	0.93763	-3.28	5.48	5.48	0.80851	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96062	0.8717	M	0.62266	1.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94828	0.7993	10	0.33940	T	0.23	.	19.3435	0.94355	0.0:1.0:0.0:0.0	.	1799	P98164	LRP2_HUMAN	C	1799	ENSP00000263816:G1799C	ENSP00000263816:G1799C	G	-	1	0	LRP2	169790209	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.569000	0.86673	0.591000	0.81541	GGT		0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Missense_Mutation	A	170081963	C	A	170081963	5	1	570	1	0	0	0	0	0	0	1	0	8958	637	22	4	8760	4	LRP2	2	170081963	Splice_Site	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	48333812	170081963	73117410	16	30937											
C2orf77	129881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170505718	170505718	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:170505718C>A	ENST00000447353.1	-	8	1396	c.1291G>T	c.(1291-1293)Gtt>Ttt	p.V431F		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	431								p.V425F(1)									GCATCTTGAACCTCTTGATGT	0.333																																																1	Substitution - Missense(1)	kidney(1)											153	129	137					2																	170505718		1817	4091	5908	SO:0001583	missense	0			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1291G>T	2.37:g.170505718C>A	ENSP00000391504:p.Val431Phe		Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178268	0.38511	.	.	ENSG00000154479	ENST00000447353	T	0.08896	3.04	5.14	-4.19	0.03835	.	.	.	.	.	T	0.08447	0.0210	L	0.56769	1.78	0.19300	N	0.999976	P	0.34462	0.454	B	0.41860	0.368	T	0.36456	-0.9747	9	0.16420	T	0.52	.	2.2454	0.04030	0.1046:0.2753:0.2056:0.4145	.	431	Q0VFZ6	CB077_HUMAN	F	431	ENSP00000391504:V431F	ENSP00000391504:V431F	V	-	1	0	C2orf77	170213964	0.000000	0.05858	0.005000	0.12908	0.630000	0.37929	-2.250000	0.01187	-1.091000	0.03065	0.467000	0.42956	GTT		0.333	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		A	170505718	C	A	170505718	3	1	570	1	0	0	0	0	1	0	0	0	2196	507	18	4	375	4	C2orf77	2	170505718	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	423755	170505718	72693655	17	30938											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179591818	179591818	+	Splice_Site	DEL	T	T	-			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:179591818delT	ENST00000591111.1	-	67	19547	c.19323delA	c.(19321-19323)aaa>aa	p.K6441fs	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.K5514fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Splice_Site_p.K6758fs|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13208					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)			GATGTCTACCTTTTACTATAA	0.388																																																0													111	109	110					2																	179591818		1889	4115	6004	SO:0001630	splice_region_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19324+1A>-	2.37:g.179591818delT			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	ENST00000591111.1	37																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Frame_Shift_Del	-	179591818	T	-	179591818	8	5	570	1	0	1	0	1	0	0	1	0	16740	1623	56	0	84431	0	TTN	2	179591818	Splice_Site	DEL	T	TCGA-CZ-4853-01A-01D-1429-08	9086100	179591818	63607555	18	30939	224	2									
TTN	7273	hgsc.bcm.edu	37	2	179591821	179591821	+	Silent	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:179591821T>C	ENST00000591111.1	-	67	19544	c.19320A>G	c.(19318-19320)gtA>gtG	p.V6440V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V5513V|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.V6757V|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13207	Ig-like 45.				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)			GTCTACCTTTTACTATAACCT	0.393																																																0													112	109	110					2																	179591821		1888	4117	6005	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19320A>G	2.37:g.179591821T>C			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179591821	T	C	179591821	2	2	570	1	0	0	0	0	0	0	0	1	16740	1741	61	3		3	TTN	2	179591821	Silent	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	3	179591821	63607552	19	30940	224	2									
DNAH7	56171	broad.mit.edu	37	2	196720578	196720578	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:196720578G>A	ENST00000312428.6	-	45	8652	c.8552C>T	c.(8551-8553)aCa>aTa	p.T2851I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2851	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.T2851I(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAATTCAAGTGTGTCTTGAAG	0.428																																																1	Substitution - Missense(1)	kidney(1)											256	243	247					2																	196720578		1845	4095	5940	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8552C>T	2.37:g.196720578G>A	ENSP00000311273:p.Thr2851Ile		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	7.997	0.754469	0.15778	.	.	ENSG00000118997	ENST00000312428	T	0.74421	-0.84	5.31	3.48	0.39840	Dynein heavy chain, coiled coil stalk (1);	0.107280	0.64402	D	0.000008	T	0.67896	0.2942	L	0.56340	1.77	0.80722	D	1	B	0.09022	0.002	B	0.19666	0.026	T	0.62548	-0.6831	10	0.40728	T	0.16	.	10.1863	0.43000	0.0:0.1335:0.5895:0.277	.	2851	Q8WXX0	DYH7_HUMAN	I	2851	ENSP00000311273:T2851I	ENSP00000311273:T2851I	T	-	2	0	DNAH7	196428823	1.000000	0.71417	0.819000	0.32651	0.290000	0.27261	4.373000	0.59537	0.777000	0.33496	-0.312000	0.09012	ACA		0.428	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		A	196720578	G	A	196720578	3	1	570	1	0	0	0	0	1	0	0	0	4608	1377	48	2	3606	2	DNAH7	2	196720578	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	17128757	196720578	46478795	20	30941											
ALS2	57679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	202598155	202598155	+	Silent	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:202598155G>A	ENST00000264276.6	-	13	2796	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F	ALS2_ENST00000457679.2_Silent_p.F120F	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	808	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.F808F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTTTATTTAGGAAATCACTAG	0.303																																																1	Substitution - coding silent(1)	kidney(1)											63	54	57					2																	202598155		1795	4066	5861	SO:0001819	synonymous_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2424C>T	2.37:g.202598155G>A			Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	CCDS42800.1																																																																																				0.303	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		A	202598155	G	A	202598155	2	1	570	1	0	0	0	0	0	0	0	1	550	1165	41	2		2	ALS2	2	202598155	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	5877577	202598155	40601218	21	30942											
FZD5	7855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	208632143	208632143	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr2:208632143C>G	ENST00000295417.3	-	2	1874	c.1321G>C	c.(1321-1323)Gac>Cac	p.D441H		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	441					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D441H(1)		NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TCCAGCTTGTCCGTCTTGGTG	0.622																																																1	Substitution - Missense(1)	kidney(1)											56	52	54					2																	208632143		2200	4299	6499	SO:0001583	missense	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1321G>C	2.37:g.208632143C>G	ENSP00000354607:p.Asp441His		A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136376	0.56936	.	.	ENSG00000163251	ENST00000295417	D	0.83163	-1.69	5.3	5.3	0.74995	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.84129	0.5404	L	0.60904	1.88	0.80722	D	1	B	0.24675	0.109	B	0.34418	0.182	T	0.82208	-0.0571	10	0.59425	D	0.04	.	18.9536	0.92649	0.0:1.0:0.0:0.0	.	441	Q13467	FZD5_HUMAN	H	441	ENSP00000354607:D441H	ENSP00000354607:D441H	D	-	1	0	FZD5	208340388	0.999000	0.42202	0.999000	0.59377	0.984000	0.73092	4.082000	0.57635	2.468000	0.83385	0.561000	0.74099	GAC		0.622	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		G	208632143	C	G	208632143	3	3	570	1	0	0	0	0	1	0	0	0	6135	855	30	4	440	4	FZD5	2	208632143	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	6033988	208632143	34567230	22	30943											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10183776	10183776	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454;Illumina Miseq			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr3:10183776G>C	ENST00000256474.2	+	1	1085	c.245G>C	c.(244-246)cGc>cCc	p.R82P	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.R82P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	82			Missing (in VHLD).|R -> P (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R82P(4)|p.P81fs*49(2)|p.S72_V87>L(1)|p.R82fs*75(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.V83fs*48(1)|p.V74fs*77(1)|p.R82L(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCAGTCCGCGCGTCGTGCTG	0.716		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	13	Deletion - Frameshift(7)|Substitution - Missense(5)|Complex - deletion inframe(1)	kidney(12)|adrenal_gland(1)	GRCh37	CD941806|CM023994	VHL	D|M							12	15	14					3																	10183776		2160	4219	6379	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.245G>C	3.37:g.10183776G>C	ENSP00000256474:p.Arg82Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402333	0.96030	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99833	-7.03;-7.03	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.101946	0.64402	D	0.000001	D	0.99799	0.9914	M	0.80183	2.485	0.43787	D	0.996324	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97000	0.9728	10	0.72032	D	0.01	-8.5138	16.8166	0.85735	0.0:0.0:1.0:0.0	.	82;82	P40337-2;P40337	.;VHL_HUMAN	P	82	ENSP00000256474:R82P;ENSP00000344757:R82P	ENSP00000256474:R82P	R	+	2	0	VHL	10158776	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.961000	0.70356	2.558000	0.86282	0.550000	0.68814	CGC		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10183776	G	C	10183776	3	2	570	1	0	0	0	0	1	0	0	0	17167	1087	38	4	247	4	VHL	3	10183776	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08		10183776	187838654	23	30944											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52649438	52649438	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr3:52649438A>T	ENST00000296302.7	-	15	1854	c.1853T>A	c.(1852-1854)cTc>cAc	p.L618H	PBRM1_ENST00000356770.4_Missense_Mutation_p.L586H|PBRM1_ENST00000337303.4_Missense_Mutation_p.L618H|PBRM1_ENST00000409114.3_Missense_Mutation_p.L633H|PBRM1_ENST00000409057.1_Missense_Mutation_p.L618H|PBRM1_ENST00000409767.1_Missense_Mutation_p.L633H|PBRM1_ENST00000410007.1_Missense_Mutation_p.L618H|PBRM1_ENST00000394830.3_Missense_Mutation_p.L618H			Q86U86	PB1_HUMAN	polybromo 1	618					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L618H(2)|p.L586H(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTCTCCTTGAGTAACTTCTC	0.373			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											114	103	107					3																	52649438		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1853T>A	3.37:g.52649438A>T	ENSP00000296302:p.Leu618His		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	23.8	4.459501	0.84317	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.69	5.69	0.88448	Bromodomain (3);	0.061216	0.64402	D	0.000004	T	0.37210	0.0995	L	0.32530	0.975	0.58432	D	0.999992	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.996;0.998;0.996;0.998;0.998;0.998;0.996	T	0.15578	-1.0432	10	0.87932	D	0	0.8528	15.944	0.79779	1.0:0.0:0.0:0.0	.	618;618;618;618;633;633;618;586;618	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	H	586;618;618;618;618;618;633;633;618;577	ENSP00000349213:L586H;ENSP00000378307:L618H;ENSP00000296302:L618H;ENSP00000338302:L618H;ENSP00000386593:L618H;ENSP00000386529:L618H;ENSP00000386643:L633H;ENSP00000386601:L633H;ENSP00000387775:L618H;ENSP00000397662:L577H	ENSP00000296302:L618H	L	-	2	0	PBRM1	52624478	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.339000	0.96797	2.170000	0.68504	0.379000	0.24179	CTC		0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52649438	A	T	52649438	3	4	570	1	0	0	0	0	1	0	0	0	11493	304	11	5	3111	5	PBRM1	3	52649438	Missense_Mutation	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	42465662	52649438	145372992	24	30945											
EAF2	55840	hgsc.bcm.edu;ucsc.edu	37	3	121554180	121554181	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr3:121554180_121554181delTC	ENST00000273668.2	+	1	119_120	c.48_49delTC	c.(46-51)gttctcfs	p.L17fs	EAF2_ENST00000451944.2_Frame_Shift_Del_p.L17fs|IQCB1_ENST00000310864.6_5'Flank|IQCB1_ENST00000349820.6_5'Flank|EAF2_ENST00000465664.1_3'UTR	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	17	Necessary for interaction with ELL.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		GCGAGCGGGTTCTCAAGTTAGG	0.584																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)											0																																										SO:0001589	frameshift_variant	55840			AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.48_49delTC	3.37:g.121554182_121554183delTC	ENSP00000273668:p.Leu17fs		Q9NZ82	Frame_Shift_Del	DEL	ENST00000273668.2	37	CCDS3006.1																																																																																				0.584	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		-	121554181	TC	-	121554180	7	5	570	1	0	1	0	1	0	0	0	0	4878	1770	62	0	50	0	EAF2	3	121554180	Frame_Shift_Del	DEL	TC	TCGA-CZ-4853-01A-01D-1429-08	68904742	121554180	76468250	25	30946	225	2									
EAF2	55840	hgsc.bcm.edu	37	3	121554183	121554183	+	Silent	SNP	C	C	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr3:121554183C>T	ENST00000273668.2	+	1	122	c.51C>T	c.(49-51)ctC>ctT	p.L17L	EAF2_ENST00000451944.2_Silent_p.L17L|IQCB1_ENST00000310864.6_5'Flank|IQCB1_ENST00000349820.6_5'Flank|EAF2_ENST00000465664.1_3'UTR	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	17	Necessary for interaction with ELL.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AGCGGGTTCTCAAGTTAGGGG	0.582																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)											0													63	60	61					3																	121554183		2203	4300	6503	SO:0001819	synonymous_variant	55840			AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.51C>T	3.37:g.121554183C>T			Q9NZ82	Silent	SNP	ENST00000273668.2	37	CCDS3006.1																																																																																				0.582	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		T	121554183	C	T	121554183	2	4	570	1	0	0	0	0	0	0	0	1	4878	813	29	2		2	EAF2	3	121554183	Silent	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	3	121554183	76468247	26	30947	225	2									
KPNA4	3840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	160227602	160227602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr3:160227602C>A	ENST00000334256.4	-	14	1500	c.1195G>T	c.(1195-1197)Gga>Tga	p.G399*		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	399					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.G399*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCTTTCCTTCCACTAATTGTT	0.308																																																1	Substitution - Nonsense(1)	kidney(1)											134	136	135					3																	160227602		2203	4300	6503	SO:0001587	stop_gained	3840			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"Importins", "Armadillo repeat containing"	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1195G>T	3.37:g.160227602C>A	ENSP00000334373:p.Gly399*		A8K4S6|D3DNM2|O00190	Nonsense_Mutation	SNP	ENST00000334256.4	37	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	40	8.163642	0.98686	.	.	ENSG00000186432	ENST00000334256	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.8231	17.6453	0.88147	0.0:1.0:0.0:0.0	.	.	.	.	X	399	.	ENSP00000334373:G399X	G	-	1	0	KPNA4	161710296	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.582000	0.82546	2.496000	0.84212	0.305000	0.20034	GGA		0.308	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		A	160227602	C	A	160227602	4	1	570	1	0	0	0	0	0	1	0	0	8434	603	21	4	386	4	KPNA4	3	160227602	Nonsense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	38673419	160227602	37794828	27	30948											
PROL1	58503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71275489	71275489	+	Silent	SNP	C	C	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr4:71275489C>T	ENST00000399575.2	+	3	618	c.444C>T	c.(442-444)acC>acT	p.T148T	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	148	Thr-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)	p.T148T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACATCACCACCGCAGATACAA	0.448																																																1	Substitution - coding silent(1)	kidney(1)											189	211	204					4																	71275489		1975	4164	6139	SO:0001819	synonymous_variant	58503			S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.444C>T	4.37:g.71275489C>T			A8MZ07|P85047	Silent	SNP	ENST00000399575.2	37	CCDS43235.1																																																																																				0.448	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		T	71275489	C	T	71275489	2	4	570	1	0	0	0	0	0	0	0	1	12559	639	23	1		1	PROL1	4	71275489	Silent	SNP	C	TCGA-CZ-4853-01A-01D-1429-08		71275489	119878787	28	30949											
CXCL10	3627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	76943924	76943924	+	Silent	SNP	A	A	G			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr4:76943924A>G	ENST00000306602.1	-	2	173	c.108T>C	c.(106-108)agT>agC	p.S36S	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	36					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.S36S(1)		kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGGTTGATTACTAATGCTGA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											137	125	129					4																	76943924		1915	4124	6039	SO:0001819	synonymous_variant	3627			X02530	CCDS43240.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000169245		"Endogenous ligands"	10637	protein-coding gene	gene with protein product		147310	"small inducible cytokine subfamily B (Cys-X-Cys), member 10"	INP10, SCYB10		2437586, 3925348	Standard	NM_001565		Approved	IFI10, IP-10, crg-2, mob-1, C7, gIP-10	uc003hjl.4	P02778		ENST00000306602.1:c.108T>C	4.37:g.76943924A>G			Q96QJ5	Silent	SNP	ENST00000306602.1	37	CCDS43240.1																																																																																				0.408	CXCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362817.1			G	76943924	A	G	76943924	2	3	570	1	0	0	0	0	0	0	0	1	4080	388	14	3		3	CXCL10	4	76943924	Silent	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	5668435	76943924	114210352	29	30950											
BMP2K	55589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	79808404	79808404	+	Silent	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr4:79808404T>C	ENST00000335016.5	+	15	2194	c.2028T>C	c.(2026-2028)gaT>gaC	p.D676D	PAQR3_ENST00000295462.3_3'UTR	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	676					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.D676D(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CTCCAGAAGATCCTTTTGGTT	0.383																																																1	Substitution - coding silent(1)	kidney(1)											110	105	106					4																	79808404		1916	4131	6047	SO:0001819	synonymous_variant	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.2028T>C	4.37:g.79808404T>C			O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	T	9.088	1.000919	0.19121	.	.	ENSG00000138756	ENST00000502613	.	.	.	5.79	1.94	0.25998	.	.	.	.	.	T	0.54854	0.1884	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42949	-0.9421	4	.	.	.	-11.9761	7.0815	0.25234	0.0:0.1327:0.1285:0.7387	.	.	.	.	P	369	.	.	S	+	1	0	BMP2K	80027428	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.792000	0.26929	0.110000	0.17919	-0.385000	0.06624	TCC		0.383	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		C	79808404	T	C	79808404	2	2	570	1	0	0	0	0	0	0	0	1	1460	1432	50	3		3	BMP2K	4	79808404	Silent	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	2864480	79808404	111345872	30	30951											
EGF	1950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	110897230	110897230	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr4:110897230delT	ENST00000265171.5	+	13	2337	c.1892delT	c.(1891-1893)cttfs	p.L631fs	EGF_ENST00000503392.1_Frame_Shift_Del_p.L631fs|EGF_ENST00000509793.1_Frame_Shift_Del_p.L589fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	631					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CTCCAAGGCCTTGGCCGTCTG	0.428																																																0													180	189	186					4																	110897230		2203	4300	6503	SO:0001589	frameshift_variant	1950			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1892delT	4.37:g.110897230delT	ENSP00000265171:p.Leu631fs		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Frame_Shift_Del	DEL	ENST00000265171.5	37	CCDS3689.1																																																																																				0.428	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			-	110897230	T	-	110897230	7	5	570	1	0	1	0	1	0	0	0	0	4964	1609	56	0	1942	0	EGF	4	110897230	Frame_Shift_Del	DEL	T	TCGA-CZ-4853-01A-01D-1429-08	31088826	110897230	80257046	31	30952											
METTL14	57721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	119626961	119626961	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr4:119626961A>T	ENST00000388822.5	+	10	1218	c.1051A>T	c.(1051-1053)Agt>Tgt	p.S351C	METTL14_ENST00000506780.1_Missense_Mutation_p.S313C			Q9HCE5	MET14_HUMAN	methyltransferase like 14	351					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.S351C(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TGGAAGAGATAGTACAATTCG	0.343																																																1	Substitution - Missense(1)	kidney(1)											69	71	70					4																	119626961		2203	4300	6503	SO:0001583	missense	57721			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.1051A>T	4.37:g.119626961A>T	ENSP00000373474:p.Ser351Cys		A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823248	0.71143	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.42900	0.96;0.96	5.82	5.82	0.92795	.	0.087165	0.85682	D	0.000000	T	0.65709	0.2717	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.979	T	0.67484	-0.5659	10	0.48119	T	0.1	.	16.1758	0.81851	1.0:0.0:0.0:0.0	.	313;351	D6RBL4;Q9HCE5	.;MTL14_HUMAN	C	351;313	ENSP00000373474:S351C;ENSP00000424111:S313C	ENSP00000373474:S351C	S	+	1	0	METTL14	119846409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.448000	0.73469	2.225000	0.72522	0.477000	0.44152	AGT		0.343	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		T	119626961	A	T	119626961	3	4	570	1	0	0	0	0	1	0	0	0	9500	420	15	5	1089	5	METTL14	4	119626961	Missense_Mutation	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	8729731	119626961	71527315	32	30953											
ADAMTS12	81792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33576548	33576548	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr5:33576548G>A	ENST00000504830.1	-	19	3918	c.3583C>T	c.(3583-3585)Cca>Tca	p.P1195S	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1110S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1195	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1195S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTGCAAGTGGCATTTCTGTA	0.507										HNSCC(64;0.19)																																						1	Substitution - Missense(1)	kidney(1)											201	184	190					5																	33576548		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3583C>T	5.37:g.33576548G>A	ENSP00000422554:p.Pro1195Ser		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923640	0.33908	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58797	0.33;0.31	5.28	5.28	0.74379	.	0.353660	0.32533	N	0.005969	T	0.49508	0.1561	L	0.36672	1.1	0.47862	D	0.999531	P;P	0.49559	0.925;0.877	P;B	0.47075	0.536;0.335	T	0.33163	-0.9879	10	0.13470	T	0.59	.	11.4596	0.50202	0.0:0.0:0.808:0.192	.	1110;1195	P58397-3;P58397	.;ATS12_HUMAN	S	1195;1110	ENSP00000422554:P1195S;ENSP00000344847:P1110S	ENSP00000344847:P1110S	P	-	1	0	ADAMTS12	33612305	0.987000	0.35691	0.350000	0.25708	0.906000	0.53458	2.502000	0.45398	2.738000	0.93877	0.655000	0.94253	CCA		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		A	33576548	G	A	33576548	3	1	570	1	0	0	0	0	1	0	0	0	257	1203	42	2	1225	2	ADAMTS12	5	33576548	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08		33576548	147338712	33	30954											
DDX46	9879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	134131704	134131704	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr5:134131704C>A	ENST00000354283.4	+	15	1953	c.1818C>A	c.(1816-1818)ttC>ttA	p.F606L	DDX46_ENST00000452510.2_Missense_Mutation_p.F606L			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	606	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.F606L(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAAGAAATTCTTGAAGTTAC	0.338																																					Colon(13;391 453 4901 21675 24897)											1	Substitution - Missense(1)	kidney(1)											113	106	108					5																	134131704		2203	4300	6503	SO:0001583	missense	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1818C>A	5.37:g.134131704C>A	ENSP00000346236:p.Phe606Leu		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634745	0.47049	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	D;D	0.91068	-2.78;-2.78	4.92	2.11	0.27256	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	N	0.11106	0.095	0.80722	D	1	B	0.27853	0.191	B	0.38020	0.263	T	0.76873	-0.2798	10	0.49607	T	0.09	-9.0449	9.8519	0.41061	0.0:0.642:0.0:0.358	.	606	Q7L014	DDX46_HUMAN	L	606	ENSP00000416534:F606L;ENSP00000346236:F606L	ENSP00000346236:F606L	F	+	3	2	DDX46	134159603	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.748000	0.26305	0.601000	0.29879	-0.424000	0.05967	TTC		0.338	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		A	134131704	C	A	134131704	3	1	570	1	0	0	0	0	1	0	0	0	4366	912	32	4	1876	4	DDX46	5	134131704	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	100555156	134131704	46783556	34	30955											
PCDHB8	56128	broad.mit.edu;hgsc.bcm.edu	37	5	140559547	140559547	+	Silent	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr5:140559547G>A	ENST00000239444.2	+	1	2177	c.1932G>A	c.(1930-1932)ctG>ctA	p.L644L	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	644	Cadherin 6. {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)	p.L644L(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGTGCTGGTCAAGGACA	0.701																																																1	Substitution - coding silent(1)	kidney(1)											19	22	21					5																	140559547		2141	4200	6341	SO:0001819	synonymous_variant	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1932G>A	5.37:g.140559547G>A			B9EGV1	Silent	SNP	ENST00000239444.2	37	CCDS4250.1																																																																																				0.701	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		A	140559547	G	A	140559547	2	1	570	1	0	0	0	0	0	0	0	1	11550	1335	47	2		2	PCDHB8	5	140559547	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	6427843	140559547	40355713	35	30956											
TTC1	7265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	159437682	159437682	+	Silent	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr5:159437682T>C	ENST00000231238.5	+	2	257	c.147T>C	c.(145-147)gaT>gaC	p.D49D	TTC1_ENST00000522793.1_Silent_p.D49D|Y_RNA_ENST00000362528.1_RNA	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	49					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)	p.D49D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TCAGGGATGATGAGGCCCATC	0.517																																																1	Substitution - coding silent(1)	kidney(1)											59	55	57					5																	159437682		2203	4300	6503	SO:0001819	synonymous_variant	7265			U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"Tetratricopeptide (TTC) repeat domain containing"	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.147T>C	5.37:g.159437682T>C			B2RCT2|D3DQJ8|Q9BVT3	Silent	SNP	ENST00000231238.5	37	CCDS4348.1																																																																																				0.517	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		C	159437682	T	C	159437682	2	2	570	1	0	0	0	0	0	0	0	1	16683	1461	51	3		3	TTC1	5	159437682	Silent	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	18878135	159437682	21477578	36	30957											
DOCK2	1794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	169174444	169174444	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr5:169174444G>T	ENST00000256935.8	+	23	2392	c.2312G>T	c.(2311-2313)aGa>aTa	p.R771I	DOCK2_ENST00000520908.1_Missense_Mutation_p.R263I|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	771					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R771I(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAATCCATGAGACGGCTCTTT	0.358																																																1	Substitution - Missense(1)	kidney(1)											92	88	90					5																	169174444		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2312G>T	5.37:g.169174444G>T	ENSP00000256935:p.Arg771Ile		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997192	0.54147	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908	T;T	0.53423	0.62;0.62	5.57	5.57	0.84162	.	0.166784	0.64402	D	0.000012	T	0.60209	0.2251	L	0.59436	1.845	0.80722	D	1	P;D	0.60575	0.456;0.988	B;P	0.54664	0.074;0.758	T	0.60707	-0.7210	10	0.52906	T	0.07	.	18.3118	0.90203	0.0:0.0:1.0:0.0	.	263;771	E7ERW7;Q92608	.;DOCK2_HUMAN	I	771;152;263	ENSP00000256935:R771I;ENSP00000429283:R263I	ENSP00000256935:R771I	R	+	2	0	DOCK2	169107022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.119000	0.71590	2.623000	0.88846	0.561000	0.74099	AGA		0.358	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169174444	G	T	169174444	3	4	570	1	0	0	0	0	1	0	0	0	4689	942	33	4	2402	4	DOCK2	5	169174444	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	9736762	169174444	11740816	37	30958											
TSPAN17	26262	broad.mit.edu;hgsc.bcm.edu	37	5	176084597	176084597	+	Silent	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr5:176084597G>A	ENST00000503045.1	+	9	883	c.828G>A	c.(826-828)caG>caA	p.Q276Q	TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000310032.8_Silent_p.Q299Q|TSPAN17_ENST00000508164.1_Silent_p.Q296Q|TSPAN17_ENST00000298564.10_3'UTR			Q96FV3	TSN17_HUMAN	tetraspanin 17	0					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)	p.Q296Q(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGGCCTCAGcagaactctc	0.552																																																1	Substitution - coding silent(1)	kidney(1)											25	29	28					5																	176084597		2202	4297	6499	SO:0001819	synonymous_variant	26262			AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"Tetraspanins"	13594	protein-coding gene	gene with protein product			"F-box only protein 23, transmembrane 4 superfamily member 17"	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.828G>A	5.37:g.176084597G>A			Q6NXF7|Q96S98|Q9UKB9	Silent	SNP	ENST00000503045.1	37																																																																																					0.552	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			A	176084597	G	A	176084597	2	1	570	1	0	0	0	0	0	0	0	1	16646	962	34	2		2	TSPAN17	5	176084597	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	6910153	176084597	4830663	38	30959											
KIF13A	63971	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	17794626	17794626	+	Splice_Site	SNP	C	C	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr6:17794626C>A	ENST00000259711.6	-	25	3181	c.3076G>T	c.(3076-3078)Ggt>Tgt	p.G1026C	KIF13A_ENST00000378814.5_Splice_Site_p.G1026C|KIF13A_ENST00000378816.5_Splice_Site_p.G1026C|KIF13A_ENST00000378826.2_Splice_Site_p.G1026C|KIF13A_ENST00000378843.2_Splice_Site_p.G1026C	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1026					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G1026C(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CGGGAATGACCCTGAAGAGGG	0.463																																																2	Substitution - Missense(2)	kidney(2)											92	86	88					6																	17794626		1888	4126	6014	SO:0001630	splice_region_variant	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3076-1G>T	6.37:g.17794626C>A			A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.936896|4.936896	0.92458|0.92458	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816|ENST00000358380	D;T;D;D;D;D|.	0.93426|.	-3.22;-1.06;-2.1;-2.02;-3.21;-2.02|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74596|0.74596	0.3737|0.3737	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;1.0;1.0|.	T|T	0.72940|0.72940	-0.4139|-0.4139	10|5	0.87932|.	D|.	0|.	.|.	20.0965|20.0965	0.97849|0.97849	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1026;1026;1026;1026|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	C|S	1026;43;1026;1026;1026;1026|419	ENSP00000368091:G1026C;ENSP00000425616:G43C;ENSP00000259711:G1026C;ENSP00000368103:G1026C;ENSP00000368120:G1026C;ENSP00000368093:G1026C|.	ENSP00000259711:G1026C|.	G|R	-|-	1|3	0|2	KIF13A|KIF13A	17902605|17902605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	7.424000|7.424000	0.80242|0.80242	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.463	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		Missense_Mutation	A	17794626	C	A	17794626	5	1	570	1	0	0	0	0	0	0	1	0	8276	637	22	4	2426	4	KIF13A	6	17794626	Splice_Site	SNP	C	TCGA-CZ-4853-01A-01D-1429-08		17794626	153320441	39	30960											
SEMA3C	10512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	80433459	80433459	+	Missense_Mutation	SNP	G	G	A	rs373225376		TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr7:80433459G>A	ENST00000265361.3	-	8	1325	c.764C>T	c.(763-765)aCg>aTg	p.T255M	SEMA3C_ENST00000419255.2_Missense_Mutation_p.T255M|SEMA3C_ENST00000536800.1_Missense_Mutation_p.T107M|SEMA3C_ENST00000544525.1_Missense_Mutation_p.T273M	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	255	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.T255M(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AATCTGTTTCGTGCTCCTGTT	0.368																																																1	Substitution - Missense(1)	kidney(1)						G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	173	161	165		764	4.7	0.9	7		165	0,8600		0,0,4300	no	missense	SEMA3C	NM_006379.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	255/752	80433459	1,13005	2203	4300	6503	SO:0001583	missense	10512			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.764C>T	7.37:g.80433459G>A	ENSP00000265361:p.Thr255Met		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276246	0.40294	2.27E-4	0.0	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.62	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.134142	0.64402	D	0.000002	T	0.46889	0.1416	L	0.55743	1.74	0.58432	D	0.999993	D;D;D	0.89917	0.998;0.999;1.0	P;D;D	0.72625	0.879;0.962;0.978	T	0.47368	-0.9123	10	0.62326	D	0.03	.	16.3716	0.83364	0.0:0.1321:0.8679:0.0	.	107;273;255	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	M	255;255;273;107	ENSP00000265361:T255M;ENSP00000411193:T255M;ENSP00000445649:T273M;ENSP00000438258:T107M	ENSP00000265361:T255M	T	-	2	0	SEMA3C	80271395	1.000000	0.71417	0.862000	0.33874	0.101000	0.19017	5.620000	0.67736	1.325000	0.45301	0.585000	0.79938	ACG		0.368	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		A	80433459	G	A	80433459	3	1	570	1	0	0	0	0	1	0	0	0	14032	1145	40	1	1535	1	SEMA3C	7	80433459	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08		80433459	78705204	40	30961											
ABP1	26	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150558149	150558149	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr7:150558149C>G	ENST00000493429.1	+	7	2692	c.2108C>G	c.(2107-2109)cCa>cGa	p.P703R	AOC1_ENST00000416793.2_Missense_Mutation_p.P722R|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.P703R|AOC1_ENST00000467291.1_Missense_Mutation_p.P703R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	703					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.P703R(1)								Amiloride(DB00594)	AACTTCTTCCCAGAGGACCCC	0.622																																																1	Substitution - Missense(1)	kidney(1)											62	73	69					7																	150558149		2047	4187	6234	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2108C>G	7.37:g.150558149C>G	ENSP00000418614:p.Pro703Arg		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605770	0.28623	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.03689	3.84;3.84;3.84;3.84	4.84	1.9	0.25705	Copper amine oxidase, C-terminal (3);	0.731602	0.12782	N	0.439640	T	0.05364	0.0142	L	0.55103	1.725	0.09310	N	1	B;P	0.36647	0.418;0.563	B;B	0.35240	0.133;0.198	T	0.26087	-1.0113	10	0.42905	T	0.14	-25.5945	12.0044	0.53251	0.5984:0.4016:0.0:0.0	.	722;703	C9J690;P19801	.;ABP1_HUMAN	R	703;703;703;722;579	ENSP00000418614:P703R;ENSP00000418328:P703R;ENSP00000354193:P703R;ENSP00000411613:P722R	ENSP00000354193:P703R	P	+	2	0	ABP1	150189082	0.005000	0.15991	0.172000	0.22920	0.943000	0.58893	2.306000	0.43673	0.073000	0.16731	0.305000	0.20034	CCA		0.622	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		G	150558149	C	G	150558149	3	3	570	1	0	0	0	0	1	0	0	0	98	594	21	4	2122	4	ABP1	7	150558149	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	70124690	150558149	8580514	41	30962											
HR	55806	broad.mit.edu;hgsc.bcm.edu	37	8	21986313	21986313	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr8:21986313G>T	ENST00000381418.4	-	2	1851	c.371C>A	c.(370-372)cCt>cAt	p.P124H	HR_ENST00000312841.8_Missense_Mutation_p.P124H|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	124					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P124H(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACTATGCTCAGGCATCAGGGG	0.637																																																1	Substitution - Missense(1)	kidney(1)											34	31	32					8																	21986313		2202	4299	6501	SO:0001583	missense	55806			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.371C>A	8.37:g.21986313G>T	ENSP00000370826:p.Pro124His		Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585458	0.66105	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.77877	-1.11;-1.13	4.82	3.94	0.45596	.	0.000000	0.43747	D	0.000522	T	0.80088	0.4559	L	0.34521	1.04	0.32431	N	0.548049	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.82491	-0.0431	10	0.87932	D	0	-10.9725	8.7874	0.34830	0.1014:0.0:0.8986:0.0	.	124;124;124	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	H	124	ENSP00000370826:P124H;ENSP00000326765:P124H	ENSP00000326765:P124H	P	-	2	0	HR	22042258	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.122000	0.64697	1.252000	0.44001	0.561000	0.74099	CCT		0.637	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			T	21986313	G	T	21986313	3	4	570	1	0	0	0	0	1	0	0	0	7349	1000	35	4	3270	4	HR	8	21986313	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08		21986313	124377709	42	30963											
MYST3	7994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	41792289	41792289	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr8:41792289T>G	ENST00000396930.3	-	18	3992	c.3449A>C	c.(3448-3450)aAg>aCg	p.K1150T	KAT6A_ENST00000406337.1_Missense_Mutation_p.K1150T|KAT6A_ENST00000265713.2_Missense_Mutation_p.K1150T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1150	Poly-Lys.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K1150T(1)									GGGCCATCCCTTTTTCTTTTT	0.433																																																1	Substitution - Missense(1)	kidney(1)											176	188	184					8																	41792289		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3449A>C	8.37:g.41792289T>G	ENSP00000380136:p.Lys1150Thr		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610218	0.46527	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.65549	-0.16;-0.16;-0.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	L	0.61218	1.895	0.53688	D	0.999979	D	0.76494	0.999	D	0.80764	0.994	T	0.78698	-0.2103	10	0.62326	D	0.03	-35.1012	16.17	0.81801	0.0:0.0:0.0:1.0	.	1150	Q92794	KAT6A_HUMAN	T	1150	ENSP00000265713:K1150T;ENSP00000385888:K1150T;ENSP00000380136:K1150T	ENSP00000265713:K1150T	K	-	2	0	KAT6A	41911446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.279000	0.76181	0.533000	0.62120	AAG		0.433	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		G	41792289	T	G	41792289	3	3	570	1	0	0	0	0	1	0	0	0	10106	1609	56	5	2569	5	MYST3	8	41792289	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	19805976	41792289	104571733	43	30964											
PTDSS1	9791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	97342498	97342498	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr8:97342498C>A	ENST00000517309.1	+	11	1557	c.1231C>A	c.(1231-1233)Cac>Aac	p.H411N	PTDSS1_ENST00000455950.2_Missense_Mutation_p.H265N|PTDSS1_ENST00000522072.1_Missense_Mutation_p.H208N	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	411					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.H411N(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ACACTATGGTCACCGAGAAAA	0.453																																																1	Substitution - Missense(1)	kidney(1)											118	104	109					8																	97342498		2203	4300	6503	SO:0001583	missense	9791			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1231C>A	8.37:g.97342498C>A	ENSP00000430548:p.His411Asn		E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385294	0.42308	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.42900	1.02;1.01;0.96	5.6	5.6	0.85130	.	0.213391	0.50627	D	0.000112	T	0.27559	0.0677	N	0.14661	0.345	0.40799	D	0.983329	B	0.02656	0.0	B	0.04013	0.001	T	0.09997	-1.0649	10	0.16420	T	0.52	-15.3401	16.5306	0.84357	0.0:1.0:0.0:0.0	.	411	P48651	PTSS1_HUMAN	N	411;265;208	ENSP00000430548:H411N;ENSP00000401248:H265N;ENSP00000430928:H208N	ENSP00000401248:H265N	H	+	1	0	PTDSS1	97411674	0.999000	0.42202	0.996000	0.52242	0.647000	0.38526	3.219000	0.51200	2.631000	0.89168	0.561000	0.74099	CAC		0.453	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			A	97342498	C	A	97342498	3	1	570	1	0	0	0	0	1	0	0	0	12741	826	29	4	1273	4	PTDSS1	8	97342498	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	55550209	97342498	49021524	44	30965											
MTBP	27085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	121500410	121500410	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr8:121500410G>A	ENST00000305949.1	+	12	1222	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	393					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.E393K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCCAGATGTTGAAGTGAAAGG	0.343																																																1	Substitution - Missense(1)	kidney(1)											109	101	104					8																	121500410		2203	4300	6503	SO:0001583	missense	27085				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1177G>A	8.37:g.121500410G>A	ENSP00000303398:p.Glu393Lys		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211786	0.79240	.	.	ENSG00000172167	ENST00000305949	.	.	.	6.17	6.17	0.99709	.	0.215910	0.47093	D	0.000257	T	0.71484	0.3345	M	0.66939	2.045	0.50039	D	0.999849	P	0.49559	0.925	P	0.49752	0.621	T	0.67628	-0.5622	9	0.36615	T	0.2	-10.736	20.8794	0.99867	0.0:0.0:1.0:0.0	.	393	Q96DY7	MTBP_HUMAN	K	393	.	ENSP00000303398:E393K	E	+	1	0	MTBP	121569591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.475000	0.81041	2.941000	0.99782	0.655000	0.94253	GAA		0.343	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		A	121500410	G	A	121500410	3	1	570	1	0	0	0	0	1	0	0	0	9914	1291	45	2	1223	2	MTBP	8	121500410	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	24157912	121500410	24863612	45	30966											
WDR67	93594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	124138304	124138304	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr8:124138304T>A	ENST00000287380.1	+	12	1669	c.1579T>A	c.(1579-1581)Tgt>Agt	p.C527S	TBC1D31_ENST00000521676.1_Missense_Mutation_p.C404S|TBC1D31_ENST00000518805.1_Missense_Mutation_p.C160S|TBC1D31_ENST00000309336.3_Missense_Mutation_p.C527S|TBC1D31_ENST00000522420.1_Missense_Mutation_p.C422S|TBC1D31_ENST00000327098.5_Missense_Mutation_p.C527S|TBC1D31_ENST00000378080.2_Missense_Mutation_p.C422S	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	527	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.C527S(1)									AGTCAATTGGTGTCAACACTG	0.299																																																1	Substitution - Missense(1)	kidney(1)											63	62	63					8																	124138304		2203	4297	6500	SO:0001583	missense	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1579T>A	8.37:g.124138304T>A	ENSP00000287380:p.Cys527Ser		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645858	0.67358	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.43	5.43	0.79202	Rab-GAP/TBC domain (2);	0.047600	0.85682	D	0.000000	T	0.59418	0.2192	M	0.86953	2.85	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.996	T	0.66268	-0.5966	10	0.72032	D	0.01	-18.2939	11.7926	0.52078	0.1313:0.0:0.0:0.8687	.	527;422;527	B7ZL19;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	S	527;527;527;422;404;422;160	ENSP00000287380:C527S;ENSP00000308358:C527S;ENSP00000312701:C527S;ENSP00000429334:C422S;ENSP00000430628:C404S;ENSP00000367320:C422S;ENSP00000429494:C160S	ENSP00000287380:C527S	C	+	1	0	WDR67	124207485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.259000	0.72494	2.053000	0.61076	0.482000	0.46254	TGT		0.299	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		A	124138304	T	A	124138304	3	1	570	1	0	0	0	0	1	0	0	0	17323	1696	59	5	1625	5	WDR67	8	124138304	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	2637894	124138304	22225718	46	30967											
SLC45A4	57210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	142228421	142228421	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr8:142228421A>G	ENST00000024061.3	-	4	1472	c.1165T>C	c.(1165-1167)Tac>Cac	p.Y389H	SLC45A4_ENST00000433583.2_Missense_Mutation_p.Y382H|SLC45A4_ENST00000519067.1_Missense_Mutation_p.Y389H|SLC45A4_ENST00000517878.1_Missense_Mutation_p.Y440H	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.Y389H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCGCGCCGGTAGCGGTAGCAG	0.687																																																1	Substitution - Missense(1)	kidney(1)											39	44	42					8																	142228421		2202	4297	6499	SO:0001583	missense	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1165T>C	8.37:g.142228421A>G	ENSP00000024061:p.Tyr389His		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483683	0.44147	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.47	1.74	0.24563	.	0.456719	0.24139	N	0.041195	D	0.86108	0.5854	L	0.29908	0.895	0.31563	N	0.657295	B;B;B	0.18461	0.009;0.028;0.015	B;B;B	0.16289	0.004;0.015;0.015	T	0.76683	-0.2869	10	0.22706	T	0.39	-19.8838	8.7015	0.34329	0.7692:0.0:0.2308:0.0	.	440;389;389	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	H	389;440;382;389	ENSP00000429059:Y389H;ENSP00000428137:Y440H;ENSP00000400799:Y382H;ENSP00000024061:Y389H	ENSP00000024061:Y389H	Y	-	1	0	SLC45A4	142297603	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	3.051000	0.49885	0.062000	0.16340	0.459000	0.35465	TAC		0.687	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		G	142228421	A	G	142228421	3	3	570	1	0	0	0	0	1	0	0	0	14649	420	15	3	1251	3	SLC45A4	8	142228421	Missense_Mutation	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	18090117	142228421	4135601	47	30968											
RGP1	692094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35752830	35752830	+	IGR	SNP	T	T	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr9:35752830T>A	ENST00000436428.2	-	0	670				RGP1_ENST00000456972.2_Missense_Mutation_p.Y419N|RGP1_ENST00000378078.4_Missense_Mutation_p.Y379N|GBA2_ENST00000545786.1_5'Flank|MSMP_ENST00000414286.1_5'Flank	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated							cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.Y419N(1)|p.Y379N(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						CCTGGCCTCATATGCTGCCCC	0.587																																																2	Substitution - Missense(2)	kidney(2)											33	34	34					9																	35752830		1988	4144	6132	SO:0001628	intergenic_variant	9827			DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882		9.37:g.35752830T>A				Missense_Mutation	SNP	ENST00000436428.2	37	CCDS43797.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084127	0.36758	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	L	0.50919	1.6	0.80722	D	1	B;B	0.20550	0.046;0.046	B;B	0.17098	0.017;0.017	T	0.52102	-0.8620	9	0.09084	T	0.74	-3.2517	15.5577	0.76213	0.0:0.0:0.0:1.0	.	379;379	Q92546;A8K0K1	RGP1_HUMAN;.	N	419;379	.	ENSP00000367318:Y379N	Y	+	1	0	RGP1	35742830	1.000000	0.71417	0.951000	0.38953	0.958000	0.62258	6.340000	0.72973	2.263000	0.75096	0.533000	0.62120	TAT		0.587	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		A	35752830	T	A	35752830	1	1	570	0	1	0	0	0	0	0	0	0	13290	1406	49	5		5	RGP1	9	35752830	IGR	SNP	T	TCGA-CZ-4853-01A-01D-1429-08		35752830	105460601	48	30969											
WNK2	65268	broad.mit.edu	37	9	96070760	96070760	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr9:96070760T>C	ENST00000297954.4	+	28	6521	c.6521T>C	c.(6520-6522)gTg>gCg	p.V2174A	WNK2_ENST00000395477.2_Missense_Mutation_p.V2137A|WNK2_ENST00000427277.2_Missense_Mutation_p.V1749A|WNK2_ENST00000349097.3_Missense_Mutation_p.V1786A|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2174					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V2122A(1)|p.V2174A(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AGCAAGACGGTGGGGGCCGCG	0.647																																																2	Substitution - Missense(2)	kidney(2)											83	56	65					9																	96070760		2200	4296	6496	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6521T>C	9.37:g.96070760T>C	ENSP00000297954:p.Val2174Ala		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.73|14.73	2.621348|2.621348	0.46736|0.46736	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251;ENST00000453718	T;T;T;T|.	0.77229|.	-1.08;-1.04;-0.34;-0.33|.	5.37|5.37	-1.14|-1.14	0.09741|0.09741	.|.	0.162634|.	0.39615|.	N|.	0.001305|.	T|T	0.52075|0.52075	0.1712|0.1712	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.28324|.	0.207;0.058;0.037;0.15|.	B;B;B;B|.	0.30943|.	0.122;0.017;0.024;0.027|.	T|T	0.40251|0.40251	-0.9573|-0.9573	10|5	0.49607|.	T|.	0.09|.	.|.	9.8346|9.8346	0.40963|0.40963	0.0:0.3608:0.0:0.6392|0.0:0.3608:0.0:0.6392	.|.	2137;1628;2137;2174|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	A|R	2174;2137;1786;1749|2133;934;611	ENSP00000297954:V2174A;ENSP00000378860:V2137A;ENSP00000297876:V1786A;ENSP00000411181:V1749A|.	ENSP00000297954:V2174A|.	V|W	+|+	2|1	0|0	WNK2|WNK2	95110581|95110581	0.893000|0.893000	0.30496|0.30496	0.240000|0.240000	0.24138|0.24138	0.994000|0.994000	0.84299|0.84299	1.372000|1.372000	0.34261|0.34261	-0.475000|-0.475000	0.06852|0.06852	0.533000|0.533000	0.62120|0.62120	GTG|TGG		0.647	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		C	96070760	T	C	96070760	3	2	570	1	0	0	0	0	1	0	0	0	17383	1696	59	3	6516	3	WNK2	9	96070760	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	60317930	96070760	45142671	49	30970											
ANAPC2	29882	broad.mit.edu;hgsc.bcm.edu	37	9	140075307	140075307	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr9:140075307A>T	ENST00000323927.2	-	8	1547	c.1543T>A	c.(1543-1545)Ttc>Atc	p.F515I		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	515					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.F515I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCATTGATGAAGAGGTCCTTG	0.637																																																1	Substitution - Missense(1)	kidney(1)											104	89	94					9																	140075307		2203	4300	6503	SO:0001583	missense	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1543T>A	9.37:g.140075307A>T	ENSP00000314004:p.Phe515Ile		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	A	35	5.488631	0.96323	.	.	ENSG00000176248	ENST00000323927	D	0.94330	-3.4	5.41	5.41	0.78517	Cullin, N-terminal (1);Cullin homology (3);	0.045624	0.85682	D	0.000000	D	0.96821	0.8962	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97303	0.9932	10	0.66056	D	0.02	-24.7114	13.3824	0.60775	1.0:0.0:0.0:0.0	.	515;512	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	I	515	ENSP00000314004:F515I	ENSP00000314004:F515I	F	-	1	0	ANAPC2	139195128	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.733000	0.74796	2.053000	0.61076	0.459000	0.35465	TTC		0.637	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		T	140075307	A	T	140075307	3	4	570	1	0	0	0	0	1	0	0	0	603	72	3	5	949	5	ANAPC2	9	140075307	Missense_Mutation	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	44004547	140075307	1138124	50	30971											
IL2RA	3559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	6067797	6067797	+	Splice_Site	SNP	C	C	G			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr10:6067797C>G	ENST00000379959.3	-	2	429	c.256G>C	c.(256-258)Gcc>Ccc	p.A86P	IL2RA_ENST00000379954.1_Splice_Site_p.A86P|IL2RA_ENST00000256876.6_Splice_Site_p.A86P|RP11-536K7.5_ENST00000440436.1_RNA	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	86					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)	p.A86P(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACACTTACCAGAGCTTGTG	0.478																																																1	Substitution - Missense(1)	kidney(1)											103	98	100					10																	6067797		2203	4300	6503	SO:0001630	splice_region_variant	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.256+1G>C	10.37:g.6067797C>G			Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263632	0.23136	.	.	ENSG00000134460	ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	T;T;T	0.50277	1.44;0.75;1.44	4.61	-1.18	0.09617	.	1.196580	0.06023	N	0.651590	T	0.18841	0.0452	N	0.01874	-0.695	0.09310	N	0.999992	P;P;P	0.47841	0.896;0.901;0.877	B;B;B	0.39299	0.145;0.277;0.296	T	0.09185	-1.0686	9	.	.	.	-16.6536	6.6798	0.23113	0.3492:0.4959:0.0:0.1549	.	86;72;86	Q5W005;E9PF94;P01589	.;.;IL2RA_HUMAN	P	86;72;86;86	ENSP00000369293:A86P;ENSP00000369287:A86P;ENSP00000256876:A86P	.	A	-	1	0	IL2RA	6107803	0.099000	0.21834	0.182000	0.23118	0.006000	0.05464	0.138000	0.16016	0.023000	0.15187	-1.378000	0.01179	GCC		0.478	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417	Missense_Mutation	G	6067797	C	G	6067797	5	3	570	1	0	0	0	0	0	0	1	0	7688	608	21	4	590	4	IL2RA	10	6067797	Splice_Site	SNP	C	TCGA-CZ-4853-01A-01D-1429-08		6067797	129466950	51	30972											
ARHGAP21	57584	broad.mit.edu;hgsc.bcm.edu	37	10	24910118	24910118	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr10:24910118C>T	ENST00000396432.2	-	9	1192	c.706G>A	c.(706-708)Gta>Ata	p.V236I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.V23I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	235					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.V235I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGTGTCAGTACTGGTGTACTG	0.478																																																1	Substitution - Missense(1)	kidney(1)											93	82	86					10																	24910118		2203	4300	6503	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.706G>A	10.37:g.24910118C>T	ENSP00000379709:p.Val236Ile		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	9.946	1.218913	0.22373	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.46451	2.82;2.8;0.88;0.87	5.35	5.35	0.76521	.	0.448964	0.23828	N	0.044165	T	0.40862	0.1134	M	0.63428	1.95	0.27461	N	0.953143	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.44922	-0.9296	10	0.06494	T	0.89	.	19.4376	0.94804	0.0:1.0:0.0:0.0	.	226;235	F8W9U9;Q5T5U3	.;RHG21_HUMAN	I	236;225;23;226;236;71	ENSP00000379709:V236I;ENSP00000365604:V23I;ENSP00000365592:V226I;ENSP00000405018:V236I	ENSP00000365604:V23I	V	-	1	0	ARHGAP21	24950124	0.894000	0.30519	0.892000	0.35008	0.359000	0.29487	2.657000	0.46724	2.686000	0.91538	0.650000	0.86243	GTA		0.478	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		T	24910118	C	T	24910118	3	4	570	1	0	0	0	0	1	0	0	0	871	565	20	2	5242	2	ARHGAP21	10	24910118	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	18842321	24910118	110624629	52	30973											
KIAA1462	57608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	30315665	30315665	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr10:30315665G>A	ENST00000375377.1	-	3	3513	c.3412C>T	c.(3412-3414)Ccc>Tcc	p.P1138S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1138					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.P1138S(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GACACCCTGGGGACATCTGCC	0.627																																																1	Substitution - Missense(1)	kidney(1)											57	59	59					10																	30315665		1966	4157	6123	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3412C>T	10.37:g.30315665G>A	ENSP00000364526:p.Pro1138Ser		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629416	0.28978	.	.	ENSG00000165757	ENST00000375377	T	0.11930	2.73	4.91	0.496	0.16896	.	0.667481	0.14343	N	0.325592	T	0.06600	0.0169	L	0.28740	0.885	0.09310	N	1	B	0.33318	0.408	B	0.27170	0.077	T	0.30297	-0.9983	10	0.25751	T	0.34	-9.6449	1.5764	0.02625	0.1696:0.1178:0.3005:0.4121	.	1138	Q9P266	K1462_HUMAN	S	1138	ENSP00000364526:P1138S	ENSP00000364526:P1138S	P	-	1	0	KIAA1462	30355671	0.000000	0.05858	0.004000	0.12327	0.054000	0.15201	-0.520000	0.06252	0.191000	0.20236	0.462000	0.41574	CCC		0.627	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		A	30315665	G	A	30315665	3	1	570	1	0	0	0	0	1	0	0	0	8236	1232	43	2	675	2	KIAA1462	10	30315665	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	5405547	30315665	105219082	53	30974											
CCAR1	55749	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70507264	70507264	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr10:70507264C>A	ENST00000265872.6	+	8	886	c.767C>A	c.(766-768)tCt>tAt	p.S256Y	CCAR1_ENST00000535016.1_Missense_Mutation_p.S241Y|CCAR1_ENST00000543719.1_Missense_Mutation_p.S241Y	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	256					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.S256Y(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TCAGCAGCTTCTATTACACCA	0.463																																																1	Substitution - Missense(1)	kidney(1)											144	139	141					10																	70507264		2203	4300	6503	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.767C>A	10.37:g.70507264C>A	ENSP00000265872:p.Ser256Tyr		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311975	0.60414	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012;ENST00000540807	T;T;T;T;T;T	0.32272	1.46;1.79;1.79;1.8;1.84;1.81	5.06	5.06	0.68205	.	0.114058	0.64402	D	0.000008	T	0.29321	0.0730	L	0.36672	1.1	0.52099	D	0.999943	B;B;B	0.14438	0.001;0.01;0.002	B;B;B	0.08055	0.002;0.002;0.003	T	0.06445	-1.0826	10	0.62326	D	0.03	-11.7294	18.781	0.91932	0.0:1.0:0.0:0.0	.	241;256;230	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	Y	256;241;241;241;230;61;61	ENSP00000265872:S256Y;ENSP00000441820:S241Y;ENSP00000445254:S241Y;ENSP00000439252:S241Y;ENSP00000438610:S230Y;ENSP00000439642:S61Y	ENSP00000265872:S256Y	S	+	2	0	CCAR1	70177270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.347000	0.65998	2.526000	0.85167	0.655000	0.94253	TCT		0.463	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		A	70507264	C	A	70507264	3	1	570	1	0	0	0	0	1	0	0	0	2732	913	32	4	793	4	CCAR1	10	70507264	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	40191599	70507264	65027483	54	30975											
MOB2	81532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1492592	1492592	+	Nonsense_Mutation	SNP	G	G	T	rs559675327		TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr11:1492592G>T	ENST00000329957.6	-	4	612	c.423C>A	c.(421-423)taC>taA	p.Y141*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	110					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.Y141*(2)		breast(1)|kidney(2)|lung(1)	4						CGAAGTCAACGTACTGTGGGG	0.592																																																2	Substitution - Nonsense(2)	kidney(2)											112	128	122					11																	1492592		2169	4247	6416	SO:0001587	stop_gained	81532				CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"MOB kinase activators"	24904	protein-coding gene	gene with protein product	"MOB2 Mps One Binder homolog (yeast)"	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.423C>A	11.37:g.1492592G>T	ENSP00000328694:p.Tyr141*		B4DKP3|Q96M67	Nonsense_Mutation	SNP	ENST00000329957.6	37	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818415	0.90790	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.34	1.14	0.20703	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.8779	9.088	0.36592	0.3524:0.0:0.6476:0.0	.	.	.	.	X	141	.	ENSP00000328694:Y141X	Y	-	3	2	AC091196.1	1449168	0.736000	0.28164	1.000000	0.80357	0.803000	0.45373	-0.206000	0.09398	0.453000	0.26858	0.462000	0.41574	TAC		0.592	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		T	1492592	G	T	1492592	4	4	570	1	0	0	0	0	0	1	0	0	9683	1140	40	4	391	4	MOB2	11	1492592	Nonsense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08		1492592	133513924	55	30976											
SLC5A12	159963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	26694953	26694953	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr11:26694953T>A	ENST00000396005.3	-	14	2012	c.1703A>T	c.(1702-1704)gAg>gTg	p.E568V		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	568					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.E568V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCTCACCTGCTCTGTCCCACT	0.423																																																1	Substitution - Missense(1)	kidney(1)											153	156	155					11																	26694953		2066	4227	6293	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1703A>T	11.37:g.26694953T>A	ENSP00000379326:p.Glu568Val		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999527	0.35320	.	.	ENSG00000148942	ENST00000396005	D	0.85556	-2.0	5.62	4.37	0.52481	.	1.202440	0.06292	U	0.699335	T	0.79329	0.4427	L	0.36672	1.1	0.80722	D	1	B	0.16603	0.018	B	0.16722	0.016	T	0.66192	-0.5985	10	0.29301	T	0.29	.	7.9833	0.30196	0.2632:0.0:0.0:0.7368	.	568	Q1EHB4	SC5AC_HUMAN	V	568	ENSP00000379326:E568V	ENSP00000379326:E568V	E	-	2	0	SLC5A12	26651529	0.990000	0.36364	0.942000	0.38095	0.661000	0.39034	2.826000	0.48104	2.270000	0.75569	0.477000	0.44152	GAG		0.423	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		A	26694953	T	A	26694953	3	1	570	1	0	0	0	0	1	0	0	0	14670	1551	54	5	161	5	SLC5A12	11	26694953	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	25202361	26694953	108311563	56	30977											
BEST1	7439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61725623	61725623	+	Silent	SNP	G	G	A	rs281865281		TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr11:61725623G>A	ENST00000378043.4	+	7	1363	c.720G>A	c.(718-720)gtG>gtA	p.V240V	BEST1_ENST00000378042.3_Silent_p.V180V|BEST1_ENST00000526988.1_Silent_p.V134V|BEST1_ENST00000449131.2_Silent_p.V180V|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000534553.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	240					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.V180V(1)|p.V240V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CCCAGGTGGTGACTGTGGCGG	0.587																																																2	Substitution - coding silent(2)	kidney(2)											133	113	120					11																	61725623		2202	4299	6501	SO:0001819	synonymous_variant	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.720G>A	11.37:g.61725623G>A			A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	37	CCDS31580.1																																																																																				0.587	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		A	61725623	G	A	61725623	2	1	570	1	0	0	0	0	0	0	0	1	1404	1277	45	2		2	BEST1	11	61725623	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	35030670	61725623	73280893	57	30978											
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92534186	92534186	+	Silent	SNP	G	G	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr11:92534186G>T	ENST00000298047.6	+	9	8024	c.8007G>T	c.(8005-8007)ctG>ctT	p.L2669L	FAT3_ENST00000409404.2_Silent_p.L2669L|FAT3_ENST00000525166.1_Silent_p.L2519L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2669	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L2669L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTAACCAGCTGAAAAATACAG	0.478										TCGA Ovarian(4;0.039)																																						2	Substitution - coding silent(2)	kidney(2)											41	39	40					11																	92534186		1883	4114	5997	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8007G>T	11.37:g.92534186G>T			B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92534186	G	T	92534186	2	4	570	1	0	0	0	0	0	0	0	1	5693	1277	45	4		4	FAT3	11	92534186	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	30808563	92534186	42472330	58	30979											
ST14	6768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	130064609	130064609	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr11:130064609A>T	ENST00000278742.5	+	9	1508	c.1090A>T	c.(1090-1092)Att>Ttt	p.I364F		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	364	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.I364F(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCCACCCAACATTGACTGCAC	0.552																																																1	Substitution - Missense(1)	kidney(1)											218	141	167					11																	130064609		2201	4297	6498	SO:0001583	missense	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1090A>T	11.37:g.130064609A>T	ENSP00000278742:p.Ile364Phe		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360458	0.41801	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.18174	2.23	4.9	3.77	0.43336	CUB (5);	0.640394	0.12658	N	0.449889	T	0.22781	0.0550	M	0.72894	2.215	0.44129	D	0.996918	B;B	0.15930	0.015;0.012	B;B	0.21917	0.018;0.037	T	0.02161	-1.1203	10	0.62326	D	0.03	.	10.1391	0.42725	0.9193:0.0:0.0807:0.0	.	174;364	B4DYI7;Q9Y5Y6	.;ST14_HUMAN	F	364;266	ENSP00000278742:I364F	ENSP00000278742:I364F	I	+	1	0	ST14	129569819	0.000000	0.05858	0.901000	0.35422	0.553000	0.35397	0.317000	0.19487	0.711000	0.32018	0.418000	0.28097	ATT		0.552	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			T	130064609	A	T	130064609	3	4	570	1	0	0	0	0	1	0	0	0	15216	217	8	5	1124	5	ST14	11	130064609	Missense_Mutation	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	37530423	130064609	4941907	59	30980											
IQSEC3	440073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	280284	280284	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:280284G>A	ENST00000538872.1	+	13	3189	c.3071G>A	c.(3070-3072)aGg>aAg	p.R1024K	IQSEC3_ENST00000382841.2_Missense_Mutation_p.R721K|IQSEC3_ENST00000537151.1_3'UTR|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.R1024K			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1024					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R721K(1)|p.R1024K(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAAGCCAAAAGGGAAGCCGCG	0.617																																																2	Substitution - Missense(2)	kidney(2)											94	98	96					12																	280284		2203	4300	6503	SO:0001583	missense	440073			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.3071G>A	12.37:g.280284G>A	ENSP00000437554:p.Arg1024Lys		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443470	0.25987	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.08896	5.85;5.85;3.04	4.05	4.05	0.47172	.	1.346210	0.04310	N	0.348766	T	0.03915	0.0110	N	0.04043	-0.29	0.31540	N	0.660079	B;B	0.13594	0.008;0.0	B;B	0.06405	0.002;0.002	T	0.35968	-0.9767	10	0.06365	T	0.9	.	5.76	0.18195	0.1803:0.0:0.8197:0.0	.	1024;721	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	K	1024;1024;721	ENSP00000437554:R1024K;ENSP00000315662:R1024K;ENSP00000372292:R721K	ENSP00000315662:R1024K	R	+	2	0	IQSEC3	150545	1.000000	0.71417	0.849000	0.33467	0.446000	0.32137	3.044000	0.49830	2.084000	0.62774	0.561000	0.74099	AGG		0.617	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		A	280284	G	A	280284	3	1	570	1	0	0	0	0	1	0	0	0	7821	1000	35	2	3121	2	IQSEC3	12	280284	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08		280284	133571611	60	30981											
BICD1	636	broad.mit.edu;ucsc.edu	37	12	32491840	32491840	+	Silent	SNP	C	C	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:32491840C>A	ENST00000281474.5	+	8	2794	c.2691C>A	c.(2689-2691)ggC>ggA	p.G897G	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	897					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.G897G(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTCTGAAGGGCCCCCCTTCCA	0.502																																																1	Substitution - coding silent(1)	kidney(1)											73	81	78					12																	32491840		2203	4300	6503	SO:0001819	synonymous_variant	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2691C>A	12.37:g.32491840C>A			A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	CCDS8726.1																																																																																				0.502	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		A	32491840	C	A	32491840	2	1	570	1	0	0	0	0	0	0	0	1	1428	726	26	4		4	BICD1	12	32491840	Silent	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	32211556	32491840	101360055	61	30982											
LRP1	4035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57591375	57591375	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:57591375G>A	ENST00000243077.3	+	58	9676	c.9210G>A	c.(9208-9210)atG>atA	p.M3070I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3070					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.M3070I(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAGAGCAGATGATCTACTGGA	0.587																																																1	Substitution - Missense(1)	kidney(1)											130	111	118					12																	57591375		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9210G>A	12.37:g.57591375G>A	ENSP00000243077:p.Met3070Ile		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304522	0.40795	.	.	ENSG00000123384	ENST00000243077	D	0.85171	-1.95	4.53	4.53	0.55603	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.89839	0.6831	L	0.59436	1.845	0.80722	D	1	D	0.54964	0.969	D	0.70227	0.968	D	0.87548	0.2463	10	0.25106	T	0.35	.	16.1915	0.81992	0.0:0.0:1.0:0.0	.	3070	Q07954	LRP1_HUMAN	I	3070	ENSP00000243077:M3070I	ENSP00000243077:M3070I	M	+	3	0	LRP1	55877642	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	4.572000	0.60886	2.347000	0.79759	0.511000	0.50034	ATG		0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57591375	G	A	57591375	3	1	570	1	0	0	0	0	1	0	0	0	8953	1290	45	2	9440	2	LRP1	12	57591375	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	25099535	57591375	76260520	62	30983											
MYF6	4618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	81101549	81101549	+	Silent	SNP	G	G	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:81101549G>T	ENST00000228641.3	+	1	273	c.51G>T	c.(49-51)ggG>ggT	p.G17G		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	17					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G17G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						ACTTGGATGGGGAAAATGTTA	0.502																																																1	Substitution - coding silent(1)	kidney(1)											100	106	104					12																	81101549		2203	4300	6503	SO:0001819	synonymous_variant	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.51G>T	12.37:g.81101549G>T			B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	CCDS9019.1																																																																																				0.502	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		T	81101549	G	T	81101549	2	4	570	1	0	0	0	0	0	0	0	1	10030	1219	43	4		4	MYF6	12	81101549	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	23510174	81101549	52750346	63	30984											
MYF6	4618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	81101620	81101620	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:81101620T>A	ENST00000228641.3	+	1	344	c.122T>A	c.(121-123)tTg>tAg	p.L41*		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	41					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L41*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GATGGTACCTTGTCCCCCTGC	0.592																																																1	Substitution - Nonsense(1)	kidney(1)											75	78	77					12																	81101620		2203	4300	6503	SO:0001587	stop_gained	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.122T>A	12.37:g.81101620T>A	ENSP00000228641:p.Leu41*		B2R898|Q53X80|Q6FHI9	Nonsense_Mutation	SNP	ENST00000228641.3	37	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	T	37	6.557917	0.97663	.	.	ENSG00000111046	ENST00000228641	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8173	0.78612	0.0:0.0:0.0:1.0	.	.	.	.	X	41	.	ENSP00000228641:L41X	L	+	2	0	MYF6	79625751	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	7.303000	0.78871	2.151000	0.67156	0.533000	0.62120	TTG		0.592	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		A	81101620	T	A	81101620	4	1	570	1	0	0	0	0	0	1	0	0	10030	1821	63	5	124	5	MYF6	12	81101620	Nonsense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	71	81101620	52750275	64	30985											
GNPTAB	79158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	102179968	102179968	+	Silent	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:102179968T>C	ENST00000299314.7	-	5	655	c.393A>G	c.(391-393)acA>acG	p.T131T	GNPTAB_ENST00000549940.1_Silent_p.T131T	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	131					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.T131T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TAATGCAGTGTGTTAGCAAAC	0.433																																																1	Substitution - coding silent(1)	kidney(1)											90	86	87					12																	102179968		2203	4300	6503	SO:0001819	synonymous_variant	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.393A>G	12.37:g.102179968T>C			A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	ENST00000299314.7	37	CCDS9088.1																																																																																				0.433	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			C	102179968	T	C	102179968	2	2	570	1	0	0	0	0	0	0	0	1	6547	1683	59	3		3	GNPTAB	12	102179968	Silent	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	21078348	102179968	31671927	65	30986											
RIC8B	55188	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	107209026	107209026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:107209026G>T	ENST00000392839.2	+	3	791	c.685G>T	c.(685-687)Gag>Tag	p.E229*	RIC8B_ENST00000355478.2_Nonsense_Mutation_p.E189*|RIC8B_ENST00000392837.4_Nonsense_Mutation_p.E229*|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	229					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E229*(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CTGTGCCATTGAGGCCCTCAA	0.463																																																1	Substitution - Nonsense(1)	kidney(1)											129	121	124					12																	107209026		2203	4300	6503	SO:0001587	stop_gained	55188			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.685G>T	12.37:g.107209026G>T	ENSP00000376583:p.Glu229*		A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Nonsense_Mutation	SNP	ENST00000392839.2	37	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	G	37	6.134890	0.97315	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.6137	20.2963	0.98556	0.0:0.0:1.0:0.0	.	.	.	.	X	229;229;189	.	ENSP00000347662:E189X	E	+	1	0	RIC8B	105733156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.187000	0.94912	2.813000	0.96785	0.655000	0.94253	GAG		0.463	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		T	107209026	G	T	107209026	4	4	570	1	0	0	0	0	0	1	0	0	13362	1291	45	4	695	4	RIC8B	12	107209026	Nonsense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	5029058	107209026	26642869	66	30987											
PRDM4	11108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	108145796	108145797	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:108145796_108145797insC	ENST00000228437.5	-	5	980_981	c.521_522insG	c.(520-522)ggtfs	p.G174fs	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	174					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GACTTTGGGCACCATGTGTGTT	0.47																																																0																																										SO:0001589	frameshift_variant	11108			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.522dupG	12.37:g.108145798_108145798dupC	ENSP00000228437:p.Gly174fs		Q9UFA6	Frame_Shift_Ins	INS	ENST00000228437.5	37	CCDS9115.1																																																																																				0.47	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		C	108145797	-	C	108145796	7	5	570	1	0	1	1	0	0	0	0	0	12464	146	6	0	1915	0	PRDM4	12	108145796	Frame_Shift_Ins	INS	-	TCGA-CZ-4853-01A-01D-1429-08	936770	108145796	25706099	67	30988											
HVCN1	84329	hgsc.bcm.edu;ucsc.edu	37	12	111089051	111089052	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:111089051_111089052insT	ENST00000356742.5	-	5	1366_1367	c.613_614insA	c.(613-615)cggfs	p.R205fs	HVCN1_ENST00000439744.2_Frame_Shift_Ins_p.R185fs|HVCN1_ENST00000242607.8_Frame_Shift_Ins_p.R205fs|HVCN1_ENST00000548312.1_Frame_Shift_Ins_p.R205fs			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	205					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCGCCACAGCCGGAGCAGAATC	0.604																																																0																																										SO:0001589	frameshift_variant	84329			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.613_614insA	12.37:g.111089051_111089052insT	ENSP00000349181:p.Arg205fs		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Frame_Shift_Ins	INS	ENST00000356742.5	37	CCDS31900.1																																																																																				0.604	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		T	111089052	-	T	111089051	7	5	570	1	0	1	1	0	0	0	0	0	7464	652	23	0	219	0	HVCN1	12	111089051	Frame_Shift_Ins	INS	-	TCGA-CZ-4853-01A-01D-1429-08	2943255	111089051	22762844	68	30989	226	2									
HVCN1	84329	hgsc.bcm.edu	37	12	111089052	111089052	+	Silent	SNP	G	G	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:111089052G>T	ENST00000356742.5	-	5	1366	c.613C>A	c.(613-615)Cgg>Agg	p.R205R	HVCN1_ENST00000439744.2_Silent_p.R185R|HVCN1_ENST00000242607.8_Silent_p.R205R|HVCN1_ENST00000548312.1_Silent_p.R205R			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	205					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CGCCACAGCCGGAGCAGAATC	0.602																																																0													73	62	65					12																	111089052		2203	4300	6503	SO:0001819	synonymous_variant	84329			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.613C>A	12.37:g.111089052G>T			A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	CCDS31900.1																																																																																				0.602	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		T	111089052	G	T	111089052	2	4	570	1	0	0	0	0	0	0	0	1	7464	1115	39	4		4	HVCN1	12	111089052	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	1	111089052	22762843	69	30990	226	2									
CCDC62	84660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123282648	123282648	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:123282648A>C	ENST00000253079.6	+	8	1222	c.878A>C	c.(877-879)cAg>cCg	p.Q293P	CCDC62_ENST00000392441.4_Missense_Mutation_p.Q293P|CCDC62_ENST00000392440.2_Missense_Mutation_p.Q54P|CCDC62_ENST00000537566.1_Missense_Mutation_p.Q54P	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	293					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Q293P(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GTAAAACAACAGAGTGATCTG	0.343																																																2	Substitution - Missense(2)	kidney(2)											58	56	57					12																	123282648		2203	4300	6503	SO:0001583	missense	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.878A>C	12.37:g.123282648A>C	ENSP00000253079:p.Gln293Pro		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692843	0.68271	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.57907	0.88;0.87;0.37;0.37	5.46	5.46	0.80206	.	0.274193	0.26237	N	0.025537	T	0.69886	0.3161	M	0.73962	2.25	0.45515	D	0.998473	P;P;D	0.71674	0.912;0.937;0.998	P;P;D	0.69142	0.603;0.504;0.962	T	0.73566	-0.3942	10	0.72032	D	0.01	-6.8816	11.9299	0.52841	1.0:0.0:0.0:0.0	.	293;54;293	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	P	293;293;54;54	ENSP00000253079:Q293P;ENSP00000376236:Q293P;ENSP00000445045:Q54P;ENSP00000376235:Q54P	ENSP00000253079:Q293P	Q	+	2	0	CCDC62	121848601	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.959000	0.63666	2.073000	0.62155	0.467000	0.42956	CAG		0.343	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		C	123282648	A	C	123282648	3	2	570	1	0	0	0	0	1	0	0	0	2835	188	7	5	908	5	CCDC62	12	123282648	Missense_Mutation	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	12193596	123282648	10569247	70	30991											
FZD10	11211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	130648663	130648663	+	Missense_Mutation	SNP	C	C	A	rs145130520		TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr12:130648663C>A	ENST00000229030.4	+	1	1660	c.1176C>A	c.(1174-1176)aaC>aaA	p.N392K	FZD10_ENST00000539839.1_Missense_Mutation_p.R360S|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	392					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.N392K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGGACGTCAACGCGCTCACCG	0.662																																																1	Substitution - Missense(1)	kidney(1)											119	107	111					12																	130648663		2203	4300	6503	SO:0001583	missense	11211			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1176C>A	12.37:g.130648663C>A	ENSP00000229030:p.Asn392Lys			Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.077|8.077	0.771518|0.771518	0.16051|0.16051	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	T|.	0.81330|.	-1.48|.	5.21|5.21	-0.892|-0.892	0.10570|0.10570	GPCR, family 2-like (1);|.	0.269386|.	0.33534|.	U|.	0.004805|.	T|T	0.34019|0.34019	0.0883|0.0883	N|N	0.17674|0.17674	0.51|0.51	0.32903|0.32903	D|D	0.513439|0.513439	B|.	0.10296|.	0.003|.	B|.	0.16289|.	0.015|.	T|T	0.48031|0.48031	-0.9070|-0.9070	10|6	0.46703|0.87932	T|D	0.11|0	.|.	6.7516|6.7516	0.23489|0.23489	0.0:0.4426:0.2172:0.3402|0.0:0.4426:0.2172:0.3402	.|.	392|.	Q9ULW2|.	FZD10_HUMAN|.	K|S	392|360	ENSP00000229030:N392K|.	ENSP00000229030:N392K|ENSP00000438460:R360S	N|R	+|+	3|1	2|0	FZD10|FZD10	129214616|129214616	0.045000|0.045000	0.20229|0.20229	0.024000|0.024000	0.17045|0.17045	0.982000|0.982000	0.71751|0.71751	-0.641000|-0.641000	0.05434|0.05434	-0.065000|-0.065000	0.13021|0.13021	0.561000|0.561000	0.74099|0.74099	AAC|CGC		0.662	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	130648663	C	A	130648663	3	1	570	1	0	0	0	0	1	0	0	0	6131	535	19	4	1178	4	FZD10	12	130648663	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	7366015	130648663	3203232	71	30992											
PABPC3	5042	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25670549	25670549	+	Silent	SNP	C	C	G			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr13:25670549C>G	ENST00000281589.3	+	1	250	c.213C>G	c.(211-213)acC>acG	p.T71T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	71	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.T71T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCTGGACACCATGAATTTTG	0.493																																																1	Substitution - coding silent(1)	kidney(1)											80	72	75					13																	25670549		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.213C>G	13.37:g.25670549C>G			Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																				0.493	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		G	25670549	C	G	25670549	2	3	570	1	0	0	0	0	0	0	0	1	11367	581	21	4		4	PABPC3	13	25670549	Silent	SNP	C	TCGA-CZ-4853-01A-01D-1429-08		25670549	89499329	72	30993											
GPC5	2262	broad.mit.edu	37	13	92051340	92051340	+	Missense_Mutation	SNP	C	C	T	rs183780526	byFrequency	TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr13:92051340C>T	ENST00000377067.3	+	1	412	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	14					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.L14F(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCGCTGCCTCCTCCTTCTGGC	0.682													C|||	2	0.000399361	0.0	0.0	5008	,	,		13027	0.002		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											29	27	28					13																	92051340		2194	4290	6484	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.40C>T	13.37:g.92051340C>T	ENSP00000366267:p.Leu14Phe		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	11.58	1.681410	0.29872	.	.	ENSG00000179399	ENST00000377067	T	0.54279	0.58	4.0	4.0	0.46444	.	0.543822	0.16607	N	0.207093	T	0.51193	0.1660	M	0.61703	1.905	0.28424	N	0.917601	B	0.17465	0.022	B	0.22386	0.039	T	0.53732	-0.8397	10	0.66056	D	0.02	.	12.3126	0.54938	0.0:1.0:0.0:0.0	.	14	P78333	GPC5_HUMAN	F	14	ENSP00000366267:L14F	ENSP00000366267:L14F	L	+	1	0	GPC5	90849341	0.980000	0.34600	0.934000	0.37439	0.328000	0.28507	0.878000	0.28126	2.143000	0.66587	0.471000	0.43371	CTC		0.682	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		T	92051340	C	T	92051340	3	4	570	1	0	0	0	0	1	0	0	0	6603	681	24	2	42	2	GPC5	13	92051340	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	66380791	92051340	23118538	73	30994											
TMTC4	84899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	101277820	101277820	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr13:101277820T>C	ENST00000376234.3	-	14	1937	c.1748A>G	c.(1747-1749)tAc>tGc	p.Y583C	TMTC4_ENST00000342624.5_Missense_Mutation_p.Y602C|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.Y472C	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	583						integral component of membrane (GO:0016021)		p.Y602C(1)		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)					ACAGTCTGGGTATTTCCTTCT	0.468																																																1	Substitution - Missense(1)	kidney(1)											138	117	124					13																	101277820		2203	4300	6503	SO:0001583	missense	84899				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.1748A>G	13.37:g.101277820T>C	ENSP00000365408:p.Tyr583Cys		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732704	0.89482	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.57436	0.4;0.4;0.4	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.998;0.982;1.0;0.986	T	0.82244	-0.0553	10	0.87932	D	0	.	16.1025	0.81194	0.0:0.0:0.0:1.0	.	472;583;583;602	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	C	583;602;472	ENSP00000365408:Y583C;ENSP00000343871:Y602C;ENSP00000365409:Y472C	ENSP00000365409:Y472C	Y	-	2	0	TMTC4	100075821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.254000	0.74563	0.533000	0.62120	TAC		0.468	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		C	101277820	T	C	101277820	3	2	570	1	0	0	0	0	1	0	0	0	16268	1638	57	3	497	3	TMTC4	13	101277820	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	9226480	101277820	13892058	74	30995											
PRKD1	5587	broad.mit.edu;hgsc.bcm.edu	37	14	30132919	30132919	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr14:30132919C>T	ENST00000331968.5	-	4	911	c.682G>A	c.(682-684)Gat>Aat	p.D228N	PRKD1_ENST00000415220.2_Missense_Mutation_p.D228N	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	228					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.D228N(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGGGGCTCATCAGGGGCACTT	0.527																																																2	Substitution - Missense(2)	kidney(2)											158	152	154					14																	30132919		2203	4300	6503	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.682G>A	14.37:g.30132919C>T	ENSP00000333568:p.Asp228Asn		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771098	0.69992	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.66460	-0.19;-0.21	5.93	5.93	0.95920	.	0.052975	0.64402	D	0.000001	T	0.68007	0.2954	L	0.56769	1.78	0.80722	D	1	P	0.41420	0.749	B	0.40741	0.339	T	0.66677	-0.5863	10	0.38643	T	0.18	-16.9773	20.3368	0.98748	0.0:1.0:0.0:0.0	.	228	Q15139	KPCD1_HUMAN	N	228	ENSP00000333568:D228N;ENSP00000390535:D228N	ENSP00000333568:D228N	D	-	1	0	PRKD1	29202670	1.000000	0.71417	0.943000	0.38184	0.989000	0.77384	5.562000	0.67346	2.805000	0.96524	0.655000	0.94253	GAT		0.527	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		T	30132919	C	T	30132919	3	4	570	1	0	0	0	0	1	0	0	0	12523	826	29	2	2116	2	PRKD1	14	30132919	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08		30132919	77216621	75	30996											
SYNE2	23224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64457262	64457262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr14:64457262delT	ENST00000344113.4	+	20	2659	c.2447delT	c.(2446-2448)attfs	p.I816fs	SYNE2_ENST00000358025.3_Frame_Shift_Del_p.I816fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.I816fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	816					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGCAAAGATTCAAGAAGCT	0.398																																																0													102	98	99					14																	64457262		1835	4087	5922	SO:0001589	frameshift_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2447delT	14.37:g.64457262delT	ENSP00000341781:p.Ile816fs		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	ENST00000344113.4	37	CCDS41963.1																																																																																				0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		-	64457262	T	-	64457262	7	5	570	1	0	1	0	1	0	0	0	0	15451	1493	52	0	2521	0	SYNE2	14	64457262	Frame_Shift_Del	DEL	T	TCGA-CZ-4853-01A-01D-1429-08	34324343	64457262	42892278	76	30997											
PLD4	122618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	105396381	105396381	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr14:105396381T>C	ENST00000392593.4	+	6	824	c.656T>C	c.(655-657)gTt>gCt	p.V219A	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Missense_Mutation_p.V226A	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	219	PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)	p.V202A(1)|p.V219A(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			AAATTCTGGGTTGTGGATGGA	0.587																																																2	Substitution - Missense(2)	kidney(2)											85	90	88					14																	105396381		2070	4211	6281	SO:0001583	missense	122618				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.656T>C	14.37:g.105396381T>C	ENSP00000376372:p.Val219Ala		Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420166	0.62622	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.25250	2.29;2.29;1.81	3.87	3.87	0.44632	Phospholipase D/Transphosphatidylase (3);	0.150752	0.44097	D	0.000487	T	0.34077	0.0885	M	0.74881	2.28	0.80722	D	1	P;B	0.36959	0.575;0.44	B;B	0.40901	0.343;0.186	T	0.30268	-0.9984	10	0.59425	D	0.04	-1.4464	12.6315	0.56659	0.0:0.0:0.0:1.0	.	226;219	F5H2B5;Q96BZ4	.;PLD4_HUMAN	A	226;219;217	ENSP00000438677:V226A;ENSP00000376372:V219A;ENSP00000451278:V217A	ENSP00000376372:V219A	V	+	2	0	PLD4	104467426	1.000000	0.71417	0.940000	0.37924	0.868000	0.49771	5.943000	0.70211	1.517000	0.48917	0.459000	0.35465	GTT		0.587	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		C	105396381	T	C	105396381	3	2	570	1	0	0	0	0	1	0	0	0	12050	1725	60	3	674	3	PLD4	14	105396381	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	40939119	105396381	1953159	77	30998											
RPUSD2	27079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40865743	40865743	+	Silent	SNP	G	G	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr15:40865743G>T	ENST00000315616.7	+	3	959	c.921G>T	c.(919-921)gtG>gtT	p.V307V	RPUSD2_ENST00000559271.1_Silent_p.V246V	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	307					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.V307V(1)		kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		AGGAGTACGTGTGCCGGGTGG	0.512																																																1	Substitution - coding silent(1)	kidney(1)											65	65	65					15																	40865743		2203	4300	6503	SO:0001819	synonymous_variant	27079			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"RNA pseudouridylate synthase domain containing"	24180	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 19"	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.921G>T	15.37:g.40865743G>T			B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Silent	SNP	ENST00000315616.7	37	CCDS10061.1																																																																																				0.512	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		T	40865743	G	T	40865743	2	4	570	1	0	0	0	0	0	0	0	1	13673	1364	48	4		4	RPUSD2	15	40865743	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08		40865743	61665649	78	30999											
PIGB	9488	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	55621962	55621962	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr15:55621962G>A	ENST00000164305.5	+	5	854	c.563G>A	c.(562-564)tGt>tAt	p.C188Y	PIGB_ENST00000539642.1_5'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	188					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.C188Y(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TGGTATTGCTGTACCAGAACC	0.353																																																1	Substitution - Missense(1)	kidney(1)											196	188	190					15																	55621962		1823	4076	5899	SO:0001583	missense	9488			D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	8959	protein-coding gene	gene with protein product	"GPI mannosyltransferase 3", "dol-P-Man dependent GPI mannosyltransferase"	604122	"phosphatidylinositol glycan, class B"			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.563G>A	15.37:g.55621962G>A	ENSP00000164305:p.Cys188Tyr		Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37		.	.	.	.	.	.	.	.	.	.	G	19.26	3.793854	0.70452	.	.	ENSG00000069943	ENST00000164305	T	0.62941	-0.01	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	L	0.53249	1.67	0.80722	D	1	D	0.58268	0.982	P	0.60236	0.871	T	0.62609	-0.6818	10	0.02654	T	1	-22.4431	17.1412	0.86754	0.0:0.0:1.0:0.0	.	188	Q92521	PIGB_HUMAN	Y	188	ENSP00000164305:C188Y	ENSP00000164305:C188Y	C	+	2	0	PIGB	53409254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.937000	0.75898	2.832000	0.97577	0.655000	0.94253	TGT		0.353	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		A	55621962	G	A	55621962	3	1	570	1	0	0	0	0	1	0	0	0	11887	1377	48	2	581	2	PIGB	15	55621962	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	14756219	55621962	46909430	79	31000											
DYX1C1	161582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	55722880	55722880	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr15:55722880T>A	ENST00000321149.3	-	10	1618	c.1251A>T	c.(1249-1251)gaA>gaT	p.E417D	DYX1C1_ENST00000448430.2_Intron|DYX1C1_ENST00000348518.3_3'UTR|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_3'UTR|DYX1C1_ENST00000380679.1_Intron	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	417					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)	p.E417D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AAGATTTTAGTTCTGTTCCTT	0.333																																																1	Substitution - Missense(1)	kidney(1)											104	105	105					15																	55722880		2192	4288	6480	SO:0001583	missense	161582				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.1251A>T	15.37:g.55722880T>A	ENSP00000323275:p.Glu417Asp		Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647583	0.29246	.	.	ENSG00000256061	ENST00000321149	T	0.06142	3.34	5.6	5.6	0.85130	.	0.670270	0.13414	U	0.389654	T	0.05731	0.0150	L	0.44542	1.39	0.80722	D	1	B	0.16396	0.017	B	0.11329	0.006	T	0.33650	-0.9860	10	0.13853	T	0.58	.	4.8403	0.13487	0.1658:0.0891:0.0:0.745	.	417	Q8WXU2	DYXC1_HUMAN	D	417	ENSP00000323275:E417D	ENSP00000323275:E417D	E	-	3	2	DYX1C1	53510172	0.086000	0.21541	0.987000	0.45799	0.993000	0.82548	0.958000	0.29227	2.141000	0.66446	0.456000	0.33151	GAA		0.333	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		A	55722880	T	A	55722880	3	1	570	1	0	0	0	0	1	0	0	0	4864	1722	60	5	118	5	DYX1C1	15	55722880	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	100918	55722880	46808512	80	31001											
FOXB1	27023	broad.mit.edu;hgsc.bcm.edu	37	15	60297463	60297463	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr15:60297463A>T	ENST00000396057.4	+	2	780	c.301A>T	c.(301-303)Agc>Tgc	p.S101C	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	101					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S101C(2)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CGAGAACGGCAGCTTCCTGCG	0.667																																																2	Substitution - Missense(2)	kidney(2)											32	35	34					15																	60297463		2203	4298	6501	SO:0001583	missense	27023			AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"Forkhead boxes"	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.301A>T	15.37:g.60297463A>T	ENSP00000379369:p.Ser101Cys		O60652|O75917|Q14CL2	Missense_Mutation	SNP	ENST00000396057.4	37	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320796	0.60634	.	.	ENSG00000171956	ENST00000396057	D	0.95690	-3.78	3.72	3.72	0.42706	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.94964	0.8371	N	0.25380	0.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93882	0.7172	10	0.39692	T	0.17	.	11.3903	0.49811	1.0:0.0:0.0:0.0	.	101	Q99853	FOXB1_HUMAN	C	101	ENSP00000379369:S101C	ENSP00000379369:S101C	S	+	1	0	FOXB1	58084755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.035000	0.70940	1.529000	0.49120	0.528000	0.53228	AGC		0.667	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			T	60297463	A	T	60297463	3	4	570	1	0	0	0	0	1	0	0	0	5994	188	7	5	303	5	FOXB1	15	60297463	Missense_Mutation	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	4574583	60297463	42233929	81	31002											
VPS13C	54832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	62352506	62352506	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr15:62352506T>C	ENST00000261517.5	-	1	141	c.68A>G	c.(67-69)aAc>aGc	p.N23S	VPS13C_ENST00000395896.4_Missense_Mutation_p.N23S|VPS13C_ENST00000395898.3_Missense_Mutation_p.N23S|RP11-643M14.1_ENST00000558368.2_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.N23S|RP11-643M14.1_ENST00000560813.2_RNA	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.N23S(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGGGACTTGTTCAGGTTCTC	0.682																																																2	Substitution - Missense(2)	kidney(2)											37	36	37					15																	62352506		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.68A>G	15.37:g.62352506T>C	ENSP00000261517:p.Asn23Ser			Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.975288	0.92919	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	4.8	4.8	0.61643	.	0.125808	0.52532	D	0.000063	T	0.79639	0.4480	N	0.12961	0.28	0.38834	D	0.955916	P;P;P;P	0.43287	0.73;0.765;0.73;0.802	P;P;B;P	0.53146	0.492;0.492;0.391;0.719	D	0.83467	0.0057	10	0.66056	D	0.02	.	12.3297	0.55033	0.0:0.0:0.0:1.0	.	23;23;23;23	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	23	ENSP00000249837:N23S;ENSP00000261517:N23S;ENSP00000379233:N23S;ENSP00000379235:N23S	ENSP00000249837:N23S	N	-	2	0	VPS13C	60139798	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.330000	0.72925	2.011000	0.59026	0.533000	0.62120	AAC		0.682	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62352506	T	C	62352506	3	2	570	1	0	0	0	0	1	0	0	0	17196	1725	60	3	11561	3	VPS13C	15	62352506	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	2055043	62352506	40178886	82	31003											
KIAA1199	57214	broad.mit.edu	37	15	81166242	81166242	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr15:81166242G>A	ENST00000394685.3	+	3	441	c.22G>A	c.(22-24)Gac>Aac	p.D8N	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D8N|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D8N			Q8WUJ3	CEMIP_HUMAN		8					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.D8N(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGGAGGCAGGACTTCCTCTT	0.577																																																1	Substitution - Missense(1)	kidney(1)											70	54	60					15																	81166242		2202	4298	6500	SO:0001583	missense	57214																														ENST00000394685.3:c.22G>A	15.37:g.81166242G>A	ENSP00000378177:p.Asp8Asn		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	1.188	-0.636233	0.03557	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.65549	-0.16;-0.16;-0.16	4.92	-2.97	0.05530	.	6.948940	0.00166	N	0.000000	T	0.43853	0.1266	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13602	-1.0503	10	0.12766	T	0.61	-8.0685	5.165	0.15081	0.3585:0.2796:0.3619:0.0	.	8	Q8WUJ3	K1199_HUMAN	N	8	ENSP00000220244:D8N;ENSP00000378177:D8N;ENSP00000348583:D8N	ENSP00000220244:D8N	D	+	1	0	KIAA1199	78953297	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.356000	0.02609	-0.329000	0.08527	-0.165000	0.13383	GAC		0.577	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			A	81166242	G	A	81166242	3	1	570	1	0	0	0	0	1	0	0	0	8215	1174	41	2	24	2	KIAA1199	15	81166242	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	18813736	81166242	21365150	83	31004											
C15orf26	161502	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	81440807	81440807	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr15:81440807A>T	ENST00000286732.4	+	7	922	c.839A>T	c.(838-840)gAt>gTt	p.D280V		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	280								p.D280V(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TCCATGTTGGATCTGCCCAAA	0.552																																																1	Substitution - Missense(1)	kidney(1)											88	88	88					15																	81440807		2044	4189	6233	SO:0001583	missense	161502			AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.839A>T	15.37:g.81440807A>T	ENSP00000286732:p.Asp280Val		Q8N906	Missense_Mutation	SNP	ENST00000286732.4	37	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.438273	0.43326	.	.	ENSG00000156206	ENST00000286732	T	0.53423	0.62	5.33	4.17	0.49024	.	0.314010	0.33057	N	0.005322	T	0.52677	0.1749	M	0.78916	2.43	0.80722	D	1	P	0.47302	0.893	P	0.44990	0.466	T	0.55444	-0.8140	10	0.49607	T	0.09	-3.2774	11.3549	0.49609	0.8476:0.1524:0.0:0.0	.	280	Q6P656	CO026_HUMAN	V	280	ENSP00000286732:D280V	ENSP00000286732:D280V	D	+	2	0	C15orf26	79227862	0.981000	0.34729	0.227000	0.23927	0.065000	0.16274	2.681000	0.46926	0.821000	0.34540	0.533000	0.62120	GAT		0.552	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528		T	81440807	A	T	81440807	3	4	570	1	0	0	0	0	1	0	0	0	1789	333	12	5	865	5	C15orf26	15	81440807	Missense_Mutation	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	274565	81440807	21090585	84	31005											
BLM	641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91295052	91295052	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr15:91295052G>A	ENST00000355112.3	+	4	953	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	BLM_ENST00000560509.1_Missense_Mutation_p.E279K	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	279					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.E279K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GGAAGAAGCTGAATTACATTC	0.328			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	1	Substitution - Missense(1)	kidney(1)											123	120	121					15																	91295052		2197	4297	6494	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.835G>A	15.37:g.91295052G>A	ENSP00000347232:p.Glu279Lys		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398416	0.83120	.	.	ENSG00000197299	ENST00000355112	T	0.50548	0.74	5.81	5.81	0.92471	.	0.424155	0.22734	N	0.056282	T	0.39708	0.1088	L	0.32530	0.975	0.09310	N	1	P;P	0.40970	0.734;0.734	B;B	0.40329	0.326;0.326	T	0.30031	-0.9992	10	0.21014	T	0.42	-33.501	15.5805	0.76432	0.0:0.0:1.0:0.0	.	279;279	B2RAN0;P54132	.;BLM_HUMAN	K	279	ENSP00000347232:E279K	ENSP00000347232:E279K	E	+	1	0	BLM	89096056	0.140000	0.22579	0.010000	0.14722	0.923000	0.55619	1.952000	0.40343	2.738000	0.93877	0.655000	0.94253	GAA		0.328	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			A	91295052	G	A	91295052	3	1	570	1	0	0	0	0	1	0	0	0	1445	1291	45	2	845	2	BLM	15	91295052	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	9854245	91295052	11236340	85	31006											
PCSK6	5046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	101938736	101938737	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr15:101938736_101938737delTT	ENST00000348070.1	-	8	864_865	c.865_866delAA	c.(865-867)aagfs	p.K289fs	PCSK6_ENST00000331826.7_Frame_Shift_Del_p.K124fs|PCSK6_ENST00000398181.2_Frame_Shift_Del_p.K289fs|PCSK6_ENST00000344273.2_Frame_Shift_Del_p.K289fs|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Frame_Shift_Del_p.K289fs	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	290	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.K289T(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCCAGCGACTTTGCCTCGACC	0.649																																																2	Substitution - Missense(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.865_866delAA	15.37:g.101938736_101938737delTT	ENSP00000305056:p.Lys289fs		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Frame_Shift_Del	DEL	ENST00000348070.1	37																																																																																					0.649	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		-	101938737	TT	-	101938736	7	5	570	1	0	1	0	1	0	0	0	0	11606	1609	56	0	2583	0	PCSK6	15	101938736	Frame_Shift_Del	DEL	TT	TCGA-CZ-4853-01A-01D-1429-08	10643684	101938736	592656	86	31007											
SOX8	30812	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1034895	1034895	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr16:1034895G>A	ENST00000293894.3	+	3	965	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	284					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E284K(1)		central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CGACGTCCACGAGTTCGACCA	0.701																																																1	Substitution - Missense(1)	kidney(1)											28	27	27					16																	1034895		2198	4295	6493	SO:0001583	missense	30812			AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.850G>A	16.37:g.1034895G>A	ENSP00000293894:p.Glu284Lys		Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263121	0.95399	.	.	ENSG00000005513	ENST00000293894	T	0.80824	-1.42	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.91838	0.7417	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93939	0.7221	10	0.87932	D	0	.	16.342	0.83084	0.0:0.0:1.0:0.0	.	284	P57073	SOX8_HUMAN	K	284	ENSP00000293894:E284K	ENSP00000293894:E284K	E	+	1	0	SOX8	974896	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	9.297000	0.96120	2.309000	0.77851	0.650000	0.86243	GAG		0.701	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			A	1034895	G	A	1034895	3	1	570	1	0	0	0	0	1	0	0	0	14963	1059	37	1	860	1	SOX8	16	1034895	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08		1034895	89319858	87	31008											
CCNF	899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2481270	2481270	+	Silent	SNP	C	C	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr16:2481270C>T	ENST00000397066.4	+	2	244	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	52	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)		p.I52I(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TAGAGGACATCCTGGCCGTCC	0.478																																																2	Substitution - coding silent(2)	kidney(2)											96	91	92					16																	2481270		2198	4300	6498	SO:0001819	synonymous_variant	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.156C>T	16.37:g.2481270C>T			B2R8H3|Q96EG9	Silent	SNP	ENST00000397066.4	37	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	3.819	-0.038057	0.07497	.	.	ENSG00000162063	ENST00000293968	.	.	.	4.96	4.01	0.46588	.	.	.	.	.	T	0.70185	0.3195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71411	-0.4601	5	0.49607	T	0.09	-32.4808	12.3604	0.55199	0.0:0.917:0.0:0.083	.	.	.	.	F	3	.	ENSP00000293968:S3F	S	+	2	0	CCNF	2421271	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	1.662000	0.37418	1.228000	0.43614	0.655000	0.94253	TCC		0.478	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		T	2481270	C	T	2481270	2	4	570	1	0	0	0	0	0	0	0	1	2924	845	30	2		2	CCNF	16	2481270	Silent	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	1446375	2481270	87873483	88	31009											
TNRC6A	27327	broad.mit.edu;ucsc.edu	37	16	24816069	24816069	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr16:24816069C>T	ENST00000395799.3	+	13	4010	c.3881C>T	c.(3880-3882)tCc>tTc	p.S1294F	TNRC6A_ENST00000315183.7_Intron|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1294	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S1294F(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGTTTATGTCCAGTCAAAGC	0.468																																																1	Substitution - Missense(1)	kidney(1)											178	165	169					16																	24816069		2197	4300	6497	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3881C>T	16.37:g.24816069C>T	ENSP00000379144:p.Ser1294Phe		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546366	0.86022	.	.	ENSG00000090905	ENST00000395799	T	0.12672	2.66	5.82	5.82	0.92795	.	0.065942	0.64402	D	0.000009	T	0.21509	0.0518	N	0.22421	0.69	0.80722	D	1	D	0.61697	0.99	P	0.54664	0.758	T	0.00647	-1.1628	10	0.72032	D	0.01	-4.6338	20.0989	0.97860	0.0:1.0:0.0:0.0	.	1294	Q8NDV7	TNR6A_HUMAN	F	1294	ENSP00000379144:S1294F	ENSP00000379144:S1294F	S	+	2	0	TNRC6A	24723570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.056000	0.76662	2.764000	0.94973	0.650000	0.86243	TCC		0.468	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		T	24816069	C	T	24816069	3	4	570	1	0	0	0	0	1	0	0	0	16345	855	30	2	3931	2	TNRC6A	16	24816069	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	22334799	24816069	65538684	89	31010											
MVP	9961	broad.mit.edu;ucsc.edu	37	16	29858549	29858549	+	Missense_Mutation	SNP	G	G	A	rs3815823	byFrequency	TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr16:29858549G>A	ENST00000357402.5	+	14	2435	c.2297G>A	c.(2296-2298)cGa>cAa	p.R766Q	MVP_ENST00000395353.1_Missense_Mutation_p.R766Q	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	766					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.R766Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CAGAAGGTCCGAGAGCTGGAA	0.542																																																1	Substitution - Missense(1)	kidney(1)											63	70	68					16																	29858549		2196	4300	6496	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.2297G>A	16.37:g.29858549G>A	ENSP00000349977:p.Arg766Gln		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189641	0.38707	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.29917	1.55;1.55	6.06	1.93	0.25924	.	0.055256	0.64402	D	0.000001	T	0.14960	0.0361	L	0.31157	0.91	0.80722	D	1	P	0.49635	0.926	B	0.34452	0.183	T	0.09292	-1.0681	10	0.23891	T	0.37	-7.1796	7.6358	0.28266	0.0982:0.0:0.649:0.2528	rs3815823;rs3815823	766	Q14764	MVP_HUMAN	Q	766	ENSP00000349977:R766Q;ENSP00000378760:R766Q	ENSP00000349977:R766Q	R	+	2	0	MVP	29766050	1.000000	0.71417	0.065000	0.19835	0.041000	0.13682	3.644000	0.54381	0.144000	0.18951	-0.169000	0.13324	CGA		0.542	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		A	29858549	G	A	29858549	3	1	570	1	0	0	0	0	1	0	0	0	9998	1058	37	1	2347	1	MVP	16	29858549	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	5042480	29858549	60496204	90	31011											
ZFP90	146198	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68598080	68598080	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr16:68598080G>A	ENST00000570495.1	+	5	1682	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	ZFP90_ENST00000398253.2_Missense_Mutation_p.D464N|ZFP90_ENST00000563169.2_Missense_Mutation_p.D464N			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	464					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.D464N(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TCACATTACAGACTTTACTGA	0.433																																																1	Substitution - Missense(1)	kidney(1)											125	120	122					16																	68598080		2017	4190	6207	SO:0001583	missense	146198			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1390G>A	16.37:g.68598080G>A	ENSP00000460547:p.Asp464Asn		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469747	0.26423	.	.	ENSG00000184939	ENST00000398253	T	0.47177	0.85	5.66	4.68	0.58851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22282	0.0537	N	0.02865	-0.47	0.23809	N	0.996787	B	0.32010	0.351	B	0.28465	0.09	T	0.06075	-1.0847	9	0.07990	T	0.79	-11.479	14.5133	0.67802	0.0:0.1477:0.8523:0.0	.	464	Q8TF47	ZFP90_HUMAN	N	464	ENSP00000381304:D464N	ENSP00000381304:D464N	D	+	1	0	ZFP90	67155581	0.000000	0.05858	0.793000	0.32043	0.968000	0.65278	-0.786000	0.04623	1.478000	0.48253	0.655000	0.94253	GAC		0.433	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		A	68598080	G	A	68598080	3	1	570	1	0	0	0	0	1	0	0	0	17659	942	33	2	1404	2	ZFP90	16	68598080	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	38739531	68598080	21756673	91	31012											
HIC1	3090	broad.mit.edu;ucsc.edu	37	17	1961130	1961130	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr17:1961130delG	ENST00000322941.3	+	2	1203	c.1203delG	c.(1201-1203)gagfs	p.E402fs	SMG6_ENST00000573166.1_5'Flank|HIC1_ENST00000399849.3_Frame_Shift_Del_p.E383fs	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	402					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GCAGCAGCGAGGAGACCGGTA	0.761																																																0													7	11	9					17																	1961130		2080	4197	6277	SO:0001589	frameshift_variant	3090				CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1203delG	17.37:g.1961130delG	ENSP00000314080:p.Glu402fs		D3DTI4	Frame_Shift_Del	DEL	ENST00000322941.3	37	CCDS42229.1																																																																																				0.761	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		-	1961130	G	-	1961130	7	5	570	1	0	1	0	1	0	0	0	0	7103	991	35	0	1209	0	HIC1	17	1961130	Frame_Shift_Del	DEL	G	TCGA-CZ-4853-01A-01D-1429-08		1961130	79234080	92	31013											
SPAG7	9552	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4863167	4863167	+	Silent	SNP	A	A	T	rs540363718		TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr17:4863167A>T	ENST00000206020.3	-	6	529	c.462T>A	c.(460-462)ccT>ccA	p.P154P	SPAG7_ENST00000575142.1_Silent_p.P143P|SPAG7_ENST00000573366.1_Silent_p.P103P	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	154						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P154P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TCACCACCACAGGCCCCTGCT	0.642																																																1	Substitution - coding silent(1)	kidney(1)											61	65	64					17																	4863167		2126	4234	6360	SO:0001819	synonymous_variant	9552			AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.462T>A	17.37:g.4863167A>T			Q96EU5	Silent	SNP	ENST00000206020.3	37	CCDS42240.1																																																																																				0.642	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		T	4863167	A	T	4863167	2	4	570	1	0	0	0	0	0	0	0	1	14989	175	7	5		5	SPAG7	17	4863167	Silent	SNP	A	TCGA-CZ-4853-01A-01D-1429-08	2902037	4863167	76332043	93	31014											
PIK3R6	146850	broad.mit.edu	37	17	8738616	8738616	+	Missense_Mutation	SNP	C	C	A	rs369528341		TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr17:8738616C>A	ENST00000311434.9	-	8	858	c.619G>T	c.(619-621)Gca>Tca	p.A207S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	207					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.A288S(1)									AGAGCGCCTGCGTGACAGGCC	0.667																																																1	Substitution - Missense(1)	kidney(1)											14	17	16					17																	8738616		2039	4173	6212	SO:0001583	missense	146850			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.619G>T	17.37:g.8738616C>A	ENSP00000475670:p.Ala207Ser		Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37																																																																																					0.667	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		A	8738616	C	A	8738616	3	1	570	1	0	0	0	0	1	0	0	0	11925	768	27	4	1696	4	PIK3R6	17	8738616	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	3875449	8738616	72456594	94	31015											
CPD	1362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	28750570	28750570	+	Silent	SNP	G	G	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr17:28750570G>C	ENST00000225719.4	+	6	1780	c.1704G>C	c.(1702-1704)gtG>gtC	p.V568V	CPD_ENST00000543464.2_Silent_p.V321V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	568	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.V568V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GAAATGAAGTGGTTGGAAGAG	0.358																																																1	Substitution - coding silent(1)	kidney(1)											136	130	132					17																	28750570		2203	4300	6503	SO:0001819	synonymous_variant	1362			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1704G>C	17.37:g.28750570G>C			B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	CCDS11257.1																																																																																				0.358	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		C	28750570	G	C	28750570	2	2	570	1	0	0	0	0	0	0	0	1	3800	1335	47	4		4	CPD	17	28750570	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	20011954	28750570	52444640	95	31016											
NF1	4763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29664584	29664584	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr17:29664584T>C	ENST00000358273.4	+	43	7009	c.6626T>C	c.(6625-6627)tTg>tCg	p.L2209S	NF1_ENST00000356175.3_Missense_Mutation_p.L2188S|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2209					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.L2209S(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAGAAGCTTTGTTGGAGATC	0.358			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)	soft_tissue(7)|kidney(2)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											99	98	99					17																	29664584		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6626T>C	17.37:g.29664584T>C	ENSP00000351015:p.Leu2209Ser		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.702232	0.68501	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.31769	1.48;1.48;1.48	5.45	5.45	0.79879	Armadillo-type fold (2);	0.000000	0.64402	D	0.000001	T	0.55625	0.1932	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.78314	0.991;0.979	T	0.59878	-0.7371	10	0.87932	D	0	.	15.8101	0.78552	0.0:0.0:0.0:1.0	.	2188;2209	P21359-2;P21359	.;NF1_HUMAN	S	2209;2188;1854	ENSP00000351015:L2209S;ENSP00000348498:L2188S;ENSP00000389907:L1854S	ENSP00000348498:L2188S	L	+	2	0	NF1	26688710	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.518000	0.81795	2.178000	0.69098	0.533000	0.62120	TTG		0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		C	29664584	T	C	29664584	3	2	570	1	0	0	0	0	1	0	0	0	10358	1821	63	3	6857	3	NF1	17	29664584	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	914014	29664584	51530626	96	31017											
KRTAP4-9	100132386	broad.mit.edu	37	17	39261882	39261882	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr17:39261882G>A	ENST00000391415.1	+	1	299	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	81	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R81H(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ACCTGCTACCGCCCCAGCTGT	0.657																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	100132386			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.242G>A	17.37:g.39261882G>A	ENSP00000375234:p.Arg81His			Missense_Mutation	SNP	ENST00000391415.1	37	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	16.94	3.260264	0.59321	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.29655	1.56	2.48	1.32	0.21799	.	0.218239	0.19032	U	0.124525	T	0.49558	0.1564	M	0.77616	2.38	0.22500	N	0.99905	D	0.89917	1.0	D	0.72075	0.976	T	0.16571	-1.0398	10	0.54805	T	0.06	.	7.9592	0.30062	0.0:0.0:0.7576:0.2424	.	81	Q9BYQ8	KRA49_HUMAN	H	81	ENSP00000375234:R81H	ENSP00000334461:R81H	R	+	2	0	KRTAP4-9	36515408	0.000000	0.05858	0.049000	0.19019	0.807000	0.45602	0.131000	0.15870	1.375000	0.46248	0.462000	0.41574	CGC		0.657	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		A	39261882	G	A	39261882	3	1	570	1	0	0	0	0	1	0	0	0	8559	1087	38	1	244	1	KRTAP4-9	17	39261882	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	9597298	39261882	41933328	97	31018											
BRCA1	672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41243622	41243623	+	Missense_Mutation	DNP	TT	TT	AG	rs397509119		TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr17:41243622_41243623TT>AG	ENST00000357654.3	-	10	4043_4044	c.3925_3926AA>CT	c.(3925-3927)AAt>CTt	p.N1309L	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.N1309L|BRCA1_ENST00000471181.2_Missense_Mutation_p.N1309L|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.N1013L|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.N1262L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.N1309L	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1309					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N1309L(1)|p.N1309I(1)|p.N1309H(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGTGTTTGTATTTGCAGTCAAG	0.426			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	3	Substitution - Missense(3)	kidney(3)	GRCh37	CD044104	BRCA1	D																																				SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3925_3926delinsAG	17.37:g.41243622_41243623delinsAG	ENSP00000350283:p.Asn1309Leu		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1																																																																																				0.426	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		AG	41243623	TT	AG	41243622	3	1	570	1	0	0	0	0	1	0	0	0	1500	1493	52	5	1791	5	BRCA1	17	41243622	Missense_Mutation	DNP	TT	TCGA-CZ-4853-01A-01D-1429-08	1981740	41243622	39951588	98	31019											
SEPT4	5414	hgsc.bcm.edu;ucsc.edu	37	17	56604046	56604064	+	Frame_Shift_Del	DEL	AGAGGAATCATAGGGATCA	AGAGGAATCATAGGGATCA	-	rs565103124		TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	AGAGGAATCATAGGGATCA	AGAGGAATCATAGGGATCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr17:56604046_56604064delAGAGGAATCATAGGGATCA	ENST00000317268.3	-	2	512_530	c.336_354delTGATCCCTATGATTCCTCT	c.(334-354)cttgatccctatgattcctctfs	p.LDPYDSS112fs	SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000426861.1_Frame_Shift_Del_p.LDPYDSS93fs|SEPT4_ENST00000317256.6_Frame_Shift_Del_p.LDPYDSS93fs|SEPT4_ENST00000580844.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Frame_Shift_Del_p.LDPYDSS104fs|SEPT4_ENST00000457347.2_Frame_Shift_Del_p.LDPYDSS127fs|SEPT4_ENST00000393086.1_Frame_Shift_Del_p.LDPYDSS93fs|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000583114.1_5'UTR|SEPT4_ENST00000579371.1_Intron|RP11-112H10.4_ENST00000578022.1_RNA	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	112					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCTACCTCAGAGGAATCATAGGGATCAAGCTTGCCCC	0.63																																																0																																										SO:0001589	frameshift_variant	5414			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.336_354delTGATCCCTATGATTCCTCT	17.37:g.56604046_56604064delAGAGGAATCATAGGGATCA	ENSP00000321674:p.Leu112fs		B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Frame_Shift_Del	DEL	ENST00000317268.3	37	CCDS11610.1																																																																																				0.63	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		-	56604064	AGAGGAATCATAGGGATCA	-	56604046	7	5	570	1	0	1	0	1	0	0	0	0	14072	175	7	0	1211	0	SEPT4	17	56604046	Frame_Shift_Del	DEL	AGAGGAATCATAGGGATCA	TCGA-CZ-4853-01A-01D-1429-08	15360424	56604046	24591164	99	31020											
GNA13	10672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	63049764	63049764	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr17:63049764C>G	ENST00000439174.2	-	2	611	c.366G>C	c.(364-366)atG>atC	p.M122I	RP11-583F2.5_ENST00000581796.1_RNA|GNA13_ENST00000541118.1_Missense_Mutation_p.M27I	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	122					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)	p.M122I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CAAACGACATCATCTTATCTC	0.453																																																1	Substitution - Missense(1)	kidney(1)											150	146	147					17																	63049764		2203	4300	6503	SO:0001583	missense	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.366G>C	17.37:g.63049764C>G	ENSP00000400717:p.Met122Ile		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	C	9.886	1.202890	0.22121	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.86627	-2.15;-2.15	5.42	4.39	0.52855	G protein alpha subunit, helical insertion (2);	0.130936	0.64402	D	0.000001	T	0.71005	0.3289	N	0.02865	-0.47	0.45979	D	0.998791	B	0.10296	0.003	B	0.11329	0.006	T	0.66428	-0.5926	10	0.18710	T	0.47	.	14.9624	0.71166	0.1432:0.8568:0.0:0.0	.	122	Q14344	GNA13_HUMAN	I	122;27;97	ENSP00000400717:M122I;ENSP00000439647:M27I	ENSP00000239138:M97I	M	-	3	0	GNA13	60480226	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	5.687000	0.68219	2.542000	0.85734	0.655000	0.94253	ATG		0.453	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		G	63049764	C	G	63049764	3	3	570	1	0	0	0	0	1	0	0	0	6503	826	29	4	779	4	GNA13	17	63049764	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	6445718	63049764	18145446	100	31021											
SETBP1	26040	broad.mit.edu	37	18	42281379	42281380	+	Missense_Mutation	DNP	CC	CC	GG			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr18:42281379_42281380CC>GG	ENST00000282030.5	+	2	364_365	c.68_69CC>GG	c.(67-69)tCC>tGG	p.S23W	SETBP1_ENST00000426838.4_Missense_Mutation_p.S23W	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	23						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S23S(3)|p.S23C(2)|p.S23W(1)|p.S23>?(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTGCCGGTCTCCTCAGCCAAGC	0.614									Schinzel-Giedion syndrome																																							7	Substitution - Missense(3)|Substitution - coding silent(3)|Complex(1)	kidney(6)|haematopoietic_and_lymphoid_tissue(1)																																								SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	Exception_encountered	18.37:g.42281379_42281380delinsGG	ENSP00000282030:p.Ser23Trp		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation|Silent	SNP	ENST00000282030.5	37	CCDS11923.2																																																																																				0.614	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		GG	42281380	CC	GG	42281379	3	3	570	1	0	0	0	0	1	0	0	0	14135	855	30	4	70	4	SETBP1	18	42281379	Missense_Mutation	DNP	CC	TCGA-CZ-4853-01A-01D-1429-08		42281379	35795869	101	31022											
C19orf44	84167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	16620643	16620643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr19:16620643delC	ENST00000221671.3	+	5	1639	c.1483delC	c.(1483-1485)ctgfs	p.L495fs	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Frame_Shift_Del_p.L495fs	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	495										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGACAGAACACTGGACGCTTT	0.493																																																0													116	116	116					19																	16620643		2203	4300	6503	SO:0001589	frameshift_variant	84167			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1483delC	19.37:g.16620643delC	ENSP00000221671:p.Leu495fs		Q8N6Y7	Frame_Shift_Del	DEL	ENST00000221671.3	37	CCDS12345.1																																																																																				0.493	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		-	16620643	C	-	16620643	7	5	570	1	0	1	0	1	0	0	0	0	1929	564	20	0	1497	0	C19orf44	19	16620643	Frame_Shift_Del	DEL	C	TCGA-CZ-4853-01A-01D-1429-08		16620643	42508340	102	31023											
SYCN	342898	broad.mit.edu;hgsc.bcm.edu	37	19	39694580	39694580	+	Silent	SNP	G	G	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr19:39694580G>T	ENST00000318438.6	-	1	326	c.315C>A	c.(313-315)gcC>gcA	p.A105A		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	105					exocytosis (GO:0006887)	secretory granule membrane (GO:0030667)		p.A105A(1)		endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTAGGTGCCGGCAGAGAACT	0.672																																																1	Substitution - coding silent(1)	kidney(1)											17	21	20					19																	39694580		2071	4184	6255	SO:0001819	synonymous_variant	342898			BC039541	CCDS46070.1	19q13.2	2008-02-05	2005-05-26			ENSG00000179751			18442	protein-coding gene	gene with protein product			"insulin synthesis associated 1"	INSSA1		11839820	Standard	NM_001080468		Approved	SYL, FLJ27441	uc002okr.2	Q0VAF6		ENST00000318438.6:c.315C>A	19.37:g.39694580G>T				Silent	SNP	ENST00000318438.6	37	CCDS46070.1																																																																																				0.672	SYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463830.1			T	39694580	G	T	39694580	2	4	570	1	0	0	0	0	0	0	0	1	15435	1103	39	4		4	SYCN	19	39694580	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	23073937	39694580	19434403	103	31024											
MACROD2	140733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	16021897	16021897	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr20:16021897A>T	ENST00000310348.4	+	16	1205	c.1205A>T	c.(1204-1206)gAc>gTc	p.D402V	MACROD2_ENST00000378058.3_Missense_Mutation_p.D167V|MACROD2_ENST00000402914.1_Missense_Mutation_p.D167V|MACROD2_ENST00000407045.3_Missense_Mutation_p.D53V|MACROD2_ENST00000217246.4_Missense_Mutation_p.D402V			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	402					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.D402V(1)|p.D167V(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGCTCCAGTGACCTAGAAAAT	0.443																																																2	Substitution - Missense(2)	kidney(2)											79	79	79					20																	16021897		2203	4299	6502	SO:0001583	missense	140733			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1205A>T	20.37:g.16021897A>T	ENSP00000309809:p.Asp402Val		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	7.097	0.573316	0.13623	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.55588	2.27;2.09;0.51;0.51	5.37	4.25	0.50352	.	0.259107	0.27720	N	0.018138	T	0.47691	0.1459	N	0.14661	0.345	0.09310	N	0.999999	D;P;P	0.63046	0.992;0.622;0.739	P;B;B	0.57244	0.816;0.11;0.221	T	0.37454	-0.9705	10	0.87932	D	0	-6.0719	9.5653	0.39394	0.9138:0.0:0.0862:0.0	.	53;402;402	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	V	402;402;167;167;53	ENSP00000217246:D402V;ENSP00000309809:D402V;ENSP00000385290:D167V;ENSP00000367297:D167V	ENSP00000217246:D402V	D	+	2	0	MACROD2	15969897	0.628000	0.27138	0.089000	0.20774	0.112000	0.19704	3.381000	0.52455	2.164000	0.68074	0.533000	0.62120	GAC		0.443	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		T	16021897	A	T	16021897	3	4	570	1	0	0	0	0	1	0	0	0	9148	275	10	5	1267	5	MACROD2	20	16021897	Missense_Mutation	SNP	A	TCGA-CZ-4853-01A-01D-1429-08		16021897	47003623	104	31025											
NKX2-2	4821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	21492858	21492858	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr20:21492858C>G	ENST00000377142.4	-	2	881	c.525G>C	c.(523-525)tgG>tgC	p.W175C	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	175					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.W175C(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGTTCTGGAACCAGATCTTGA	0.692																																																1	Substitution - Missense(1)	kidney(1)											42	44	43					20																	21492858		2202	4300	6502	SO:0001583	missense	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.525G>C	20.37:g.21492858C>G	ENSP00000366347:p.Trp175Cys			Missense_Mutation	SNP	ENST00000377142.4	37	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845485	0.71603	.	.	ENSG00000125820	ENST00000377142	D	0.99822	-6.94	5.25	5.25	0.73442	Homeobox, eukaryotic (2);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99912	0.9958	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96127	0.9089	10	0.87932	D	0	.	14.1628	0.65457	0.0:0.9252:0.0:0.0748	.	175	O95096	NKX22_HUMAN	C	175	ENSP00000366347:W175C	ENSP00000366347:W175C	W	-	3	0	NKX2-2	21440858	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.808000	0.86044	2.442000	0.82660	0.462000	0.41574	TGG		0.692	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			G	21492858	C	G	21492858	3	3	570	1	0	0	0	0	1	0	0	0	10452	508	18	4	300	4	NKX2-2	20	21492858	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	5470961	21492858	41532662	105	31026											
MYH7B	57644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33585398	33585398	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr20:33585398G>C	ENST00000262873.7	+	30	3920	c.3828G>C	c.(3826-3828)gaG>gaC	p.E1276D		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1234						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1276D(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGCGCATGGAGGTGGACGACC	0.652																																																1	Substitution - Missense(1)	kidney(1)											67	72	70					20																	33585398		2203	4299	6502	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3828G>C	20.37:g.33585398G>C	ENSP00000262873:p.Glu1276Asp		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915413	0.73098	.	.	ENSG00000078814	ENST00000262873	D	0.82433	-1.61	4.73	2.8	0.32819	Myosin tail (1);	0.000000	0.38381	N	0.001715	D	0.89715	0.6795	M	0.85710	2.77	0.41441	D	0.987927	D	0.76494	0.999	D	0.80764	0.994	D	0.88200	0.2883	10	0.59425	D	0.04	.	7.5425	0.27746	0.3284:0.0:0.6716:0.0	.	1234	A7E2Y1	MYH7B_HUMAN	D	1276	ENSP00000262873:E1276D	ENSP00000262873:E1276D	E	+	3	2	MYH7B	33049059	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.947000	0.40293	0.613000	0.30089	0.563000	0.77884	GAG		0.652	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		C	33585398	G	C	33585398	3	2	570	1	0	0	0	0	1	0	0	0	10042	991	35	4	3946	4	MYH7B	20	33585398	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	12092540	33585398	29440122	106	31027											
PIGT	51604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44050027	44050027	+	Silent	SNP	C	C	T	rs141166012		TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr20:44050027C>T	ENST00000279036.6	+	9	1118	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	PIGT_ENST00000279035.9_Silent_p.A244A|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000543458.2_Silent_p.A290A|PIGT_ENST00000341555.5_Silent_p.A152A|PIGT_ENST00000545755.1_Silent_p.A84A|PIGT_ENST00000535404.1_Silent_p.A191A	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.A346A(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				ACACAGAGGCCCCCCCAGTGC	0.577																																																2	Substitution - coding silent(2)	kidney(2)											31	32	32					20																	44050027		2203	4300	6503	SO:0001819	synonymous_variant	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1038C>T	20.37:g.44050027C>T			B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	CCDS13353.1																																																																																				0.577	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		T	44050027	C	T	44050027	2	4	570	1	0	0	0	0	0	0	0	1	11901	610	22	2		2	PIGT	20	44050027	Silent	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	10464629	44050027	18975493	107	31028											
PCIF1	63935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44575022	44575022	+	Splice_Site	DEL	G	G	-			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr20:44575022delG	ENST00000372409.3	+	14	1976	c.1612delG	c.(1612-1614)ggg>gg	p.G538fs	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	538					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGGCTCCCGCGGGTGAGGGCC	0.642																																																0													85	84	84					20																	44575022		2203	4300	6503	SO:0001630	splice_region_variant	63935			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1613+1G>-	20.37:g.44575022delG			E1P5P1|Q54AB9|Q9NT85	Frame_Shift_Del	DEL	ENST00000372409.3	37	CCDS13388.1																																																																																				0.642	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104	Frame_Shift_Del	-	44575022	G	-	44575022	8	5	570	1	0	1	0	1	0	0	1	0	11582	1130	39	0	1658	0	PCIF1	20	44575022	Splice_Site	DEL	G	TCGA-CZ-4853-01A-01D-1429-08	524995	44575022	18450498	108	31029											
MKL1	57591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40831553	40831553	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr22:40831553T>C	ENST00000355630.3	-	5	603	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	MKL1_ENST00000402630.1_Missense_Mutation_p.K5E|MKL1_ENST00000396617.3_Missense_Mutation_p.K5E|MKL1_ENST00000402042.1_Missense_Mutation_p.K5E|MKL1_ENST00000407029.1_Missense_Mutation_p.K5E	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	5	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.K5E(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGGACTTTTCAAAGCTGTT	0.458			T	RBM15	acute megakaryocytic leukemia																																		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	1	Substitution - Missense(1)	kidney(1)											99	95	97					22																	40831553		2203	4300	6503	SO:0001583	missense	57591			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.13A>G	22.37:g.40831553T>C	ENSP00000347847:p.Lys5Glu		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	T	34	5.410982	0.96072	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630;ENST00000422851	D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99834	0.9925	M	0.81942	2.565	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.80764	0.994;0.98;0.98	D	0.96451	0.9334	10	0.87932	D	0	-6.389	15.335	0.74244	0.0:0.0:0.0:1.0	.	5;5;5	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	E	5;5;5;5;5;32	ENSP00000347847:K5E;ENSP00000379861:K5E;ENSP00000385584:K5E;ENSP00000385835:K5E;ENSP00000385076:K5E;ENSP00000398478:K32E	ENSP00000347847:K5E	K	-	1	0	MKL1	39161499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.825000	0.86693	2.097000	0.63578	0.454000	0.30748	AAA		0.458	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		C	40831553	T	C	40831553	3	2	570	1	0	0	0	0	1	0	0	0	9603	1792	62	3	2826	3	MKL1	22	40831553	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08		40831553	10473013	109	31030											
C22orf9	23313	broad.mit.edu;hgsc.bcm.edu	37	22	45601754	45601754	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chr22:45601754C>A	ENST00000336156.5	-	3	321	c.256G>T	c.(256-258)Gac>Tac	p.D86Y	KIAA0930_ENST00000251993.7_Missense_Mutation_p.D91Y|KIAA0930_ENST00000391627.2_Missense_Mutation_p.D52Y|KIAA0930_ENST00000443310.3_Missense_Mutation_p.D68Y	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	86								p.D91Y(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TTCTTGGAGTCCCGCCGGTAC	0.627																																																1	Substitution - Missense(1)	kidney(1)											56	53	54					22																	45601754		2203	4300	6503	SO:0001583	missense	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.256G>T	22.37:g.45601754C>A	ENSP00000336720:p.Asp86Tyr		B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926241	0.92319	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.22	4.22	0.49857	.	0.095122	0.64402	D	0.000001	T	0.77665	0.4164	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;0.979;0.978;0.989	D;P;P;P	0.87578	0.998;0.837;0.77;0.883	T	0.81444	-0.0930	9	0.87932	D	0	-19.0778	16.989	0.86348	0.0:1.0:0.0:0.0	.	68;86;91;157	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	Y	86;91;52;68;52;68	.	ENSP00000251993:D91Y	D	-	1	0	KIAA0930	43980418	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	7.212000	0.77941	2.095000	0.63458	0.561000	0.74099	GAC		0.627	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		A	45601754	C	A	45601754	3	1	570	1	0	0	0	0	1	0	0	0	2153	855	30	4	990	4	C22orf9	22	45601754	Missense_Mutation	SNP	C	TCGA-CZ-4853-01A-01D-1429-08	4770201	45601754	5702812	110	31031											
TLR8	51311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	12938126	12938126	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chrX:12938126T>A	ENST00000218032.6	+	2	1054	c.967T>A	c.(967-969)Tta>Ata	p.L323I	TLR8_ENST00000311912.5_Missense_Mutation_p.L341I	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	323					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.L341I(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ATTCAACTATTTAGTGGGAGA	0.413																																																1	Substitution - Missense(1)	kidney(1)											70	71	71					X																	12938126		2200	4295	6495	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.967T>A	X.37:g.12938126T>A	ENSP00000218032:p.Leu323Ile		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.985601	0.53934	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.62639	0.01;0.01	5.17	4.0	0.46444	.	0.000000	0.32416	N	0.006138	T	0.71126	0.3303	L	0.53617	1.68	0.43076	D	0.994726	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73307	-0.4024	10	0.87932	D	0	.	7.8439	0.29414	0.0:0.1663:0.0:0.8337	.	323;341	Q9NR97;D1CS70	TLR8_HUMAN;.	I	323;341	ENSP00000218032:L323I;ENSP00000312082:L341I	ENSP00000218032:L323I	L	+	1	2	TLR8	12848047	0.967000	0.33354	0.754000	0.31244	0.434000	0.31775	1.759000	0.38420	1.832000	0.53329	0.486000	0.48141	TTA		0.413	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		A	12938126	T	A	12938126	3	1	570	1	0	0	0	0	1	0	0	0	15962	1838	64	5	973	5	TLR8	23	12938126	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08		12938126	142332434	111	31032											
SSX5	6758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48053635	48053635	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chrX:48053635G>T	ENST00000376923.1	-	3	209	c.210C>A	c.(208-210)ttC>ttA	p.F70L	SSX5_ENST00000311798.1_Missense_Mutation_p.F111L|SSX5_ENST00000347757.1_Missense_Mutation_p.F70L			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	70	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.F111L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TATTACGCATGAAAGGTGGGA	0.478																																																1	Substitution - Missense(1)	kidney(1)											139	124	129					X																	48053635		2203	4299	6502	SO:0001583	missense	6758			BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.210C>A	X.37:g.48053635G>T	ENSP00000366122:p.Phe70Leu		Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	13.75	2.329278	0.41197	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757	T;T;T	0.00678	5.87;5.87;5.87	1.72	1.72	0.24424	Krueppel-associated box (2);Krueppel-associated box-related (1);	0.129282	0.36268	N	0.002699	T	0.01523	0.0049	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.54576	-0.8273	10	0.32370	T	0.25	.	6.3099	0.21159	0.0:0.0:1.0:0.0	.	70;111	O60225;O60225-2	SSX5_HUMAN;.	L	111;70;70	ENSP00000312415:F111L;ENSP00000366122:F70L;ENSP00000290558:F70L	ENSP00000312415:F111L	F	-	3	2	SSX5	47938579	1.000000	0.71417	0.228000	0.23943	0.030000	0.12068	3.052000	0.49893	1.147000	0.42369	0.171000	0.16805	TTC		0.478	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		T	48053635	G	T	48053635	3	4	570	1	0	0	0	0	1	0	0	0	15213	1281	45	4	372	4	SSX5	23	48053635	Missense_Mutation	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	35115509	48053635	107216925	112	31033											
SHROOM4	57477	broad.mit.edu;hgsc.bcm.edu	37	X	50556986	50556986	+	Silent	SNP	G	G	A			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chrX:50556986G>A	ENST00000289292.7	-	1	316	c.33C>T	c.(31-33)gtC>gtT	p.V11V	SHROOM4_ENST00000376020.2_Silent_p.V11V			Q9ULL8	SHRM4_HUMAN	shroom family member 4	11	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.V11V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTGCACAGGGACGTACTGGA	0.662																																																1	Substitution - coding silent(1)	kidney(1)											36	35	35					X																	50556986		2200	4299	6499	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.33C>T	X.37:g.50556986G>A			A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																				0.662	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		A	50556986	G	A	50556986	2	1	570	1	0	0	0	0	0	0	0	1	14302	1161	41	2		2	SHROOM4	23	50556986	Silent	SNP	G	TCGA-CZ-4853-01A-01D-1429-08	2503351	50556986	104713574	113	31034											
KIAA2022	340533	broad.mit.edu;hgsc.bcm.edu	37	X	73962314	73962314	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4853-01A-01D-1429-08	TCGA-CZ-4853-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	bdef62d1-a036-43b4-811b-bf4beab7eca8	32e7b838-5d52-4880-8d59-f19e54cd177f	g.chrX:73962314T>C	ENST00000055682.6	-	3	2689	c.2078A>G	c.(2077-2079)gAc>gGc	p.D693G		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	693					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.D693G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCCTGTGATGTCATTTAAATG	0.438																																																1	Substitution - Missense(1)	kidney(1)											85	73	77					X																	73962314		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2078A>G	X.37:g.73962314T>C	ENSP00000055682:p.Asp693Gly		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	1.206	-0.631076	0.03584	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.34072	1.38;1.38	5.52	1.93	0.25924	.	0.833235	0.10591	N	0.656767	T	0.16642	0.0400	N	0.12182	0.205	0.27545	N	0.950678	B	0.06786	0.001	B	0.08055	0.003	T	0.32640	-0.9899	10	0.13470	T	0.59	-0.9801	3.9298	0.09279	0.1481:0.2439:0.0:0.6081	.	693	Q5QGS0	K2022_HUMAN	G	693	ENSP00000362567:D693G;ENSP00000055682:D693G	ENSP00000055682:D693G	D	-	2	0	KIAA2022	73879039	1.000000	0.71417	0.335000	0.25508	0.455000	0.32408	2.024000	0.41049	0.265000	0.21872	0.486000	0.48141	GAC		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		C	73962314	T	C	73962314	3	2	570	1	0	0	0	0	1	0	0	0	8271	1667	58	3	2480	3	KIAA2022	23	73962314	Missense_Mutation	SNP	T	TCGA-CZ-4853-01A-01D-1429-08	23405328	73962314	81308246	114	31035											
PADI6	353238	hgsc.bcm.edu	37	1	17699723	17699723	+	RNA	SNP	G	G	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr1:17699723G>A	ENST00000434762.2	+	0	339							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGTGGATGCGGATAAGGTAAG	0.617																																																0													46	48	47					1																	17699723		2153	4259	6412			353238			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17699723G>A			Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37																																																																																					0.617	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		A	17699723	G	A	17699723	1	1	571	0	1	0	0	0	0	0	0	0	11383	1174	41	2		2	PADI6	1	17699723	RNA	SNP	G	TCGA-CZ-4854-01A-01D-1373-10		17699723	231550898	1	31036											
NBPF3	84224	hgsc.bcm.edu	37	1	21808099	21808099	+	Silent	SNP	A	A	G			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr1:21808099A>G	ENST00000318249.5	+	13	1793	c.1443A>G	c.(1441-1443)agA>agG	p.R481R	NBPF3_ENST00000318220.6_Silent_p.R425R|NBPF3_ENST00000454000.2_Silent_p.R411R|NBPF3_ENST00000342104.5_Silent_p.R469R	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	481	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTCAGCAGAGAGCTGCCGG	0.483																																																0													64	77	72					1																	21808099		2200	4298	6498	SO:0001819	synonymous_variant	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1443A>G	1.37:g.21808099A>G			A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	CCDS216.1																																																																																				0.483	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		G	21808099	A	G	21808099	2	3	571	1	0	0	0	0	0	0	0	1	10199	301	11	3		3	NBPF3	1	21808099	Silent	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	4108376	21808099	227442522	2	31037			1	49		2	2	30	A		7.96241e-05
NBPF3	84224	hgsc.bcm.edu	37	1	21808128	21808128	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr1:21808128A>T	ENST00000318249.5	+	13	1822	c.1472A>T	c.(1471-1473)gAc>gTc	p.D491V	NBPF3_ENST00000318220.6_Missense_Mutation_p.D435V|NBPF3_ENST00000454000.2_Missense_Mutation_p.D421V|NBPF3_ENST00000342104.5_Missense_Mutation_p.D479V	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	491	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGCCTGAGGACTTGCAGGAC	0.488																																																0													62	73	70					1																	21808128		2202	4298	6500	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1472A>T	1.37:g.21808128A>T	ENSP00000316782:p.Asp491Val		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.636860	0.00007	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.02103	4.45;4.45;4.45;4.45;4.45	0.766	-1.53	0.08611	DUF1220 (2);	.	.	.	.	T	0.00468	0.0015	N	0.00102	-2.13	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.36817	-0.9732	9	0.02654	T	1	.	2.1133	0.03708	0.2551:0.3586:0.0:0.3863	.	421;479;491	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	V	421;435;491;479;435	ENSP00000415711:D421V;ENSP00000316739:D435V;ENSP00000316782:D491V;ENSP00000340336:D479V;ENSP00000391865:D435V	ENSP00000316739:D435V	D	+	2	0	NBPF3	21680715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.375000	0.07475	-1.691000	0.01430	-2.159000	0.00328	GAC		0.488	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		T	21808128	A	T	21808128	3	4	571	1	0	0	0	0	1	0	0	0	10199	275	10	5	1518	5	NBPF3	1	21808128	Missense_Mutation	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	29	21808128	227442493	3	31038			1	49		2	2	30	A		7.96241e-05
C1QA	712	hgsc.bcm.edu	37	1	22965443	22965443	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr1:22965443G>A	ENST00000374642.3	+	3	485	c.281G>A	c.(280-282)cGt>cAt	p.R94H	C1QA_ENST00000402322.1_Missense_Mutation_p.R94H	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	94	Collagen-like.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCGGAGCCCGTGGCATCCCG	0.662																																																0													13	17	16					1																	22965443		2196	4296	6492	SO:0001583	missense	712			AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"Complement system"	1241	protein-coding gene	gene with protein product		120550	"complement component 1, q subcomponent, alpha polypeptide"			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.281G>A	1.37:g.22965443G>A	ENSP00000363773:p.Arg94His		B2R4X2|Q5T963	Missense_Mutation	SNP	ENST00000374642.3	37	CCDS226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.326|7.326	0.618039|0.618039	0.14129|0.14129	.|.	.|.	ENSG00000173372|ENSG00000173372	ENST00000339353|ENST00000374642;ENST00000438241;ENST00000402322	.|D;D;D	.|0.96104	.|-3.91;-3.91;-3.91	5.48|5.48	-0.322|-0.322	0.12713|0.12713	.|.	.|.	.|.	.|.	.|.	.|D	.|0.90393	.|0.6993	L|L	0.39147|0.39147	1.195|1.195	0.09310|0.09310	N|N	1|1	.|B	.|0.17038	.|0.02	.|B	.|0.17098	.|0.017	.|T	.|0.81274	.|-0.1007	.|9	.|0.54805	.|T	.|0.06	.|.	3.7044|3.7044	0.08394|0.08394	0.4033:0.3686:0.1431:0.085|0.4033:0.3686:0.1431:0.085	.|.	.|94	.|P02745	.|C1QA_HUMAN	.|H	-1|94	.|ENSP00000363773:R94H;ENSP00000416841:R94H;ENSP00000385564:R94H	.|ENSP00000363773:R94H	.|R	+|+	.|2	.|0	C1QA|C1QA	22838030|22838030	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	0.099000|0.099000	0.15210|0.15210	0.044000|0.044000	0.15775|0.15775	-0.254000|-0.254000	0.11334|0.11334	.|CGT		0.662	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		A	22965443	G	A	22965443	3	1	571	1	0	0	0	0	1	0	0	0	1956	1145	40	1	287	1	C1QA	1	22965443	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	1157315	22965443	226285178	4	31039											
IL22RA1	58985	hgsc.bcm.edu;ucsc.edu	37	1	24460780	24460780	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr1:24460780C>A	ENST00000270800.1	-	4	490	c.452G>T	c.(451-453)gGc>gTc	p.G151V		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	151	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TAGCCGGTGGCCATCGCCTGC	0.532																																																0													115	99	104					1																	24460780		2203	4300	6503	SO:0001583	missense	58985			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"Interleukins and interleukin receptors"	13700	protein-coding gene	gene with protein product		605457	"interleukin 22 receptor"	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.452G>T	1.37:g.24460780C>A	ENSP00000270800:p.Gly151Val		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	CCDS247.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290194	0.40494	.	.	ENSG00000142677	ENST00000270800	T	0.50277	0.75	4.98	4.98	0.66077	Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.565490	0.19415	N	0.114847	T	0.59059	0.2166	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61078	-0.7135	10	0.72032	D	0.01	-7.5582	13.7585	0.62950	0.0:1.0:0.0:0.0	.	43;151	B4E2V9;Q8N6P7	.;I22R1_HUMAN	V	151	ENSP00000270800:G151V	ENSP00000270800:G151V	G	-	2	0	IL22RA1	24333367	1.000000	0.71417	0.642000	0.29436	0.005000	0.04900	3.721000	0.54941	2.313000	0.78055	0.561000	0.74099	GGC		0.532	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			A	24460780	C	A	24460780	3	1	571	1	0	0	0	0	1	0	0	0	7675	739	26	4	1288	4	IL22RA1	1	24460780	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	1495337	24460780	224789841	5	31040											
KIAA0907	22889	hgsc.bcm.edu	37	1	155887391	155887391	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr1:155887391G>C	ENST00000368321.3	-	11	1362	c.1339C>G	c.(1339-1341)Ccc>Gcc	p.P447A	KIAA0907_ENST00000368320.3_Missense_Mutation_p.P447A|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	447	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			tggggctggggctggggctgg	0.572																																																0													16	20	19					1																	155887391		2156	4279	6435	SO:0001583	missense	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1339C>G	1.37:g.155887391G>C	ENSP00000357304:p.Pro447Ala		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.012064	0.35511	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.23348	1.91;1.91	5.81	4.9	0.64082	.	0.320644	0.29558	N	0.011803	T	0.05868	0.0153	N	0.08118	0	0.29884	N	0.825788	B;B	0.22683	0.073;0.073	B;B	0.25405	0.06;0.06	T	0.18618	-1.0331	10	0.54805	T	0.06	-5.0955	10.9801	0.47488	0.0725:0.1641:0.7633:0.0	.	447;447	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	A	447	ENSP00000357304:P447A;ENSP00000357303:P447A	ENSP00000357303:P447A	P	-	1	0	KIAA0907	154154015	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.199000	0.51043	1.600000	0.50102	0.655000	0.94253	CCC		0.572	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		C	155887391	G	C	155887391	3	2	571	1	0	0	0	0	1	0	0	0	8201	1203	42	4	521	4	KIAA0907	1	155887391	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	131426611	155887391	93363230	6	31041											
ITLN1	55600	hgsc.bcm.edu;ucsc.edu	37	1	160853223	160853223	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr1:160853223G>T	ENST00000326245.3	-	3	267	c.152C>A	c.(151-153)gCa>gAa	p.A51E	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	51	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTCACCAAATGCACTAGGACA	0.408																																																0													154	135	142					1																	160853223		2203	4300	6503	SO:0001583	missense	55600			AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.152C>A	1.37:g.160853223G>T	ENSP00000323587:p.Ala51Glu		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	G	9.870	1.198637	0.22121	.	.	ENSG00000179914	ENST00000326245	D	0.93307	-3.2	3.59	2.68	0.31781	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.879086	0.09291	U	0.822340	D	0.86171	0.5869	M	0.75447	2.3	0.09310	N	1	B	0.10296	0.003	B	0.24269	0.052	T	0.77035	-0.2737	10	0.29301	T	0.29	-4.5921	7.2627	0.26212	0.125:0.0:0.875:0.0	.	51	Q8WWA0	ITLN1_HUMAN	E	51	ENSP00000323587:A51E	ENSP00000323587:A51E	A	-	2	0	ITLN1	159119847	0.019000	0.18553	0.002000	0.10522	0.004000	0.04260	2.239000	0.43079	0.841000	0.35020	-0.126000	0.14955	GCA		0.408	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		T	160853223	G	T	160853223	3	4	571	1	0	0	0	0	1	0	0	0	7912	1319	46	4	813	4	ITLN1	1	160853223	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	4965832	160853223	88397398	7	31042											
GALNT2	2590	hgsc.bcm.edu;ucsc.edu	37	1	230338993	230338993	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr1:230338993A>T	ENST00000366672.4	+	3	403	c.331A>T	c.(331-333)Aag>Tag	p.K111*	GALNT2_ENST00000543760.1_Nonsense_Mutation_p.K73*|GALNT2_ENST00000541865.1_Nonsense_Mutation_p.K21*	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	111					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGAGAGTGATAAGCTTCGAAT	0.542																																																0													124	121	122					1																	230338993		2203	4300	6503	SO:0001587	stop_gained	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.331A>T	1.37:g.230338993A>T	ENSP00000355632:p.Lys111*		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Nonsense_Mutation	SNP	ENST00000366672.4	37	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	A	38	7.261761	0.98171	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000541865	.	.	.	5.63	5.63	0.86233	.	0.041001	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1485	0.81594	1.0:0.0:0.0:0.0	.	.	.	.	X	73;111;21	.	ENSP00000355632:K111X	K	+	1	0	GALNT2	228405616	1.000000	0.71417	0.655000	0.29622	0.662000	0.39071	9.268000	0.95675	2.281000	0.76405	0.533000	0.62120	AAG		0.542	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		T	230338993	A	T	230338993	4	4	571	1	0	0	0	0	0	1	0	0	6215	363	13	5	341	5	GALNT2	1	230338993	Nonsense_Mutation	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	69485770	230338993	18911628	8	31043											
SIPA1L2	57568	hgsc.bcm.edu	37	1	232581296	232581296	+	Missense_Mutation	SNP	C	C	T	rs557448632		TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr1:232581296C>T	ENST00000366630.1	-	10	3690	c.3332G>A	c.(3331-3333)cGg>cAg	p.R1111Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1111Q|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R185Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1111					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.R1111Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGGCAGCTTCCGGTCGAAGGA	0.612																																																1	Substitution - Missense(1)	ovary(1)											35	40	38					1																	232581296		2014	4173	6187	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3332G>A	1.37:g.232581296C>T	ENSP00000355589:p.Arg1111Gln		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861376	0.51482	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.60548	0.18;0.18;0.18	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	L	0.54323	1.7	0.43936	D	0.996594	P;D	0.54601	0.944;0.967	B;P	0.47044	0.182;0.535	T	0.50617	-0.8807	10	0.15499	T	0.54	-23.0501	12.6564	0.56790	0.0:0.9244:0.0:0.0756	.	1111;185	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	Q	1111;1111;185	ENSP00000355589:R1111Q;ENSP00000262861:R1111Q;ENSP00000309102:R185Q	ENSP00000262861:R1111Q	R	-	2	0	SIPA1L2	230647919	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.593000	0.61034	2.560000	0.86352	0.655000	0.94253	CGG		0.612	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		T	232581296	C	T	232581296	3	4	571	1	0	0	0	0	1	0	0	0	14336	652	23	1	1888	1	SIPA1L2	1	232581296	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	2242303	232581296	16669325	9	31044											
CCDC74B	91409	hgsc.bcm.edu	37	2	130897218	130897218	+	Silent	SNP	T	T	C	rs13006246	byFrequency	TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr2:130897218T>C	ENST00000310463.6	-	8	1190	c.1053A>G	c.(1051-1053)gcA>gcG	p.A351A	MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000392984.3_Silent_p.A453A|CCDC74B_ENST00000409943.3_Silent_p.A285A	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	351										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TCTGCTTCAGTGCGGGCAGGA	0.632													.|||	549	0.109625	0.025	0.1873	5008	,	,		16457	0.0288		0.2863	False		,,,				2504	0.0706															0								T		293,4109		9,275,1917	40	36	37		1053	-9.4	0	2	dbSNP_121	37	2250,6348		287,1676,2336	no	coding-synonymous	CCDC74B	NM_207310.1		296,1951,4253	CC,CT,TT		26.1689,6.6561,19.5615		351/381	130897218	2543,10457	2201	4299	6500	SO:0001819	synonymous_variant	91409				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.1053A>G	2.37:g.130897218T>C			Q6NW18	Silent	SNP	ENST00000310463.6	37	CCDS2155.1	305	0.13965201465201466	16	0.032520325203252036	80	0.22099447513812154	21	0.03671328671328671	188	0.24802110817941952	.	0.207	-1.039639	0.02013	0.066561	0.261689	ENSG00000152076	ENST00000409488	.	.	.	4.68	-9.37	0.00626	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999467645	.	.	.	.	.	.	T	0.16837	-1.0389	4	0.87932	D	0	.	2.0144	0.03495	0.1495:0.3335:0.2059:0.3111	rs13006246	.	.	.	R	245	.	ENSP00000386250:H245R	H	-	2	0	CCDC74B	130613688	0.408000	0.25360	0.005000	0.12908	0.007000	0.05969	-1.147000	0.03188	-3.106000	0.00243	-2.385000	0.00230	CAC		0.632	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		C	130897218	T	C	130897218	2	2	571	1	0	0	0	0	0	0	0	1	2850	1683	59	3		3	CCDC74B	2	130897218	Silent	SNP	T	TCGA-CZ-4854-01A-01D-1373-10		130897218	112302155	10	31045											
LRP2	4036	hgsc.bcm.edu;ucsc.edu	37	2	170029718	170029718	+	Silent	SNP	G	G	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr2:170029718G>A	ENST00000263816.3	-	57	11316	c.11031C>T	c.(11029-11031)ctC>ctT	p.L3677L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3677	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGTTGTCACAGAGATGGGCAG	0.478																																																0													88	86	87					2																	170029718		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11031C>T	2.37:g.170029718G>A			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		A	170029718	G	A	170029718	2	1	571	1	0	0	0	0	0	0	0	1	8958	929	33	2		2	LRP2	2	170029718	Silent	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	39132500	170029718	73169655	11	31046											
ORC2L	4999	hgsc.bcm.edu	37	2	201814292	201814292	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr2:201814292T>C	ENST00000234296.2	-	5	562	c.313A>G	c.(313-315)Aag>Gag	p.K105E	ORC2_ENST00000467605.1_5'UTR	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	105					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TTAGCCATCTTTTCAGAGTGT	0.308																																																0													49	46	47					2																	201814292		2201	4285	6486	SO:0001583	missense	0				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.313A>G	2.37:g.201814292T>C	ENSP00000234296:p.Lys105Glu		Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380822	0.42207	.	.	ENSG00000115942	ENST00000234296;ENST00000410039	T;T	0.50548	1.33;0.74	5.71	4.56	0.56223	.	0.202175	0.52532	N	0.000080	T	0.25754	0.0627	N	0.14661	0.345	0.31695	N	0.641374	B;B	0.16802	0.019;0.019	B;B	0.14578	0.009;0.011	T	0.25328	-1.0135	10	0.11485	T	0.65	-7.9395	7.7723	0.29015	0.0:0.0959:0.0:0.9041	.	105;105	B4DYU9;Q13416	.;ORC2_HUMAN	E	105	ENSP00000234296:K105E;ENSP00000386390:K105E	ENSP00000234296:K105E	K	-	1	0	ORC2	201522537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.842000	0.48230	1.001000	0.39076	0.477000	0.44152	AAG		0.308	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		C	201814292	T	C	201814292	3	2	571	1	0	0	0	0	1	0	0	0	11264	1850	64	3	1476	3	ORC2L	2	201814292	Missense_Mutation	SNP	T	TCGA-CZ-4854-01A-01D-1373-10	31784574	201814292	41385081	12	31047											
NUP210	23225	hgsc.bcm.edu;ucsc.edu	37	3	13415333	13415333	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr3:13415333C>T	ENST00000254508.5	-	12	1554	c.1472G>A	c.(1471-1473)aGc>aAc	p.S491N		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	491	Poly-Ser.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AACCAGGTGGCTTGACGAAGA	0.582																																																0													141	98	112					3																	13415333		2203	4300	6503	SO:0001583	missense	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1472G>A	3.37:g.13415333C>T	ENSP00000254508:p.Ser491Asn		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	1.514	-0.548689	0.04024	.	.	ENSG00000132182	ENST00000254508	T	0.33865	1.39	5.8	0.801	0.18679	Invasin/intimin cell-adhesion (1);	0.318375	0.38959	N	0.001502	T	0.09555	0.0235	N	0.01800	-0.715	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.34850	-0.9812	10	0.02654	T	1	.	5.2266	0.15397	0.0:0.3792:0.2557:0.3652	.	491;491	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	N	491	ENSP00000254508:S491N	ENSP00000254508:S491N	S	-	2	0	NUP210	13390333	0.995000	0.38212	0.001000	0.08648	0.737000	0.42083	1.650000	0.37292	0.083000	0.17047	0.655000	0.94253	AGC		0.582	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		T	13415333	C	T	13415333	3	4	571	1	0	0	0	0	1	0	0	0	10762	797	28	2	4307	2	NUP210	3	13415333	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10		13415333	184607097	13	31048											
CCDC36	339834	hgsc.bcm.edu;ucsc.edu	37	3	49293580	49293580	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr3:49293580T>C	ENST00000438782.1	+	8	886	c.650T>C	c.(649-651)tTt>tCt	p.F217S	CCDC36_ENST00000296449.5_Missense_Mutation_p.F217S|CCDC36_ENST00000452691.2_Missense_Mutation_p.F217S			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	217										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAAGGAGAGTTTATAGAAATG	0.463																																																0													112	116	114					3																	49293580		2203	4300	6503	SO:0001583	missense	339834			AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"cancer/testis antigen 74"						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.650T>C	3.37:g.49293580T>C	ENSP00000391788:p.Phe217Ser		C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	T	16.91	3.251904	0.59212	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.15952	2.38;2.38;2.38	5.13	5.13	0.70059	.	0.348665	0.24848	N	0.035115	T	0.26702	0.0653	L	0.32530	0.975	0.58432	D	0.999996	D	0.61080	0.989	P	0.61722	0.893	T	0.01448	-1.1352	10	0.87932	D	0	-4.6869	11.2623	0.49091	0.0:0.0:0.0:1.0	.	217	Q8IYA8	CCD36_HUMAN	S	217;217;217;197	ENSP00000296449:F217S;ENSP00000391788:F217S;ENSP00000407837:F217S	ENSP00000296449:F217S	F	+	2	0	CCDC36	49268584	0.912000	0.30974	0.275000	0.24674	0.760000	0.43138	3.773000	0.55333	2.163000	0.67991	0.482000	0.46254	TTT		0.463	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		C	49293580	T	C	49293580	3	2	571	1	0	0	0	0	1	0	0	0	2810	1841	64	3	676	3	CCDC36	3	49293580	Missense_Mutation	SNP	T	TCGA-CZ-4854-01A-01D-1373-10	35878247	49293580	148728850	14	31049											
PBRM1	55193	ucsc.edu	37	3	52620685	52620685	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr3:52620685G>A	ENST00000296302.7	-	20	3144	c.3143C>T	c.(3142-3144)cCa>cTa	p.P1048L	PBRM1_ENST00000356770.4_Missense_Mutation_p.P1016L|PBRM1_ENST00000337303.4_Missense_Mutation_p.P1048L|PBRM1_ENST00000409114.3_Missense_Mutation_p.P1063L|PBRM1_ENST00000409057.1_Missense_Mutation_p.P1048L|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1023L|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1023L|PBRM1_ENST00000409767.1_Missense_Mutation_p.P1063L			Q86U86	PB1_HUMAN	polybromo 1	1048	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P1048R(2)|p.P1016R(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAAGTTTTCTGGGCATAACTT	0.363			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											55	60	58					3																	52620685		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3143C>T	3.37:g.52620685G>A	ENSP00000296302:p.Pro1048Leu		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.034976	0.75617	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	D;D;D;D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.24	5.24	0.73138	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.94095	0.8107	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94775	0.7948	10	0.87932	D	0	.	18.8065	0.92040	0.0:0.0:1.0:0.0	.	1023;1047;1023;1048;1063;1063;1048;1016;1048	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	L	1016;1023;1048;1048;1048;1023;1063;1063;1047;1006	ENSP00000349213:P1016L;ENSP00000378307:P1023L;ENSP00000296302:P1048L;ENSP00000338302:P1048L;ENSP00000386593:P1048L;ENSP00000386529:P1023L;ENSP00000386643:P1063L;ENSP00000386601:P1063L;ENSP00000387775:P1047L;ENSP00000397662:P1006L	ENSP00000296302:P1048L	P	-	2	0	PBRM1	52595725	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.410000	0.97335	2.435000	0.82474	0.555000	0.69702	CCA		0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52620685	G	A	52620685	3	1	571	1	0	0	0	0	1	0	0	0	11493	1348	47	2	1801	2	PBRM1	3	52620685	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	3327105	52620685	145401745	15	31050											
MUC13	56667	hgsc.bcm.edu;ucsc.edu	37	3	124632487	124632487	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr3:124632487C>A	ENST00000311075.3	-	7	1041	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	336	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AGGCAGTCATCCGCAGTCTGG	0.423																																																0													94	84	88					3																	124632487		2203	4300	6503	SO:0001583	missense	56667			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1003G>T	3.37:g.124632487C>A	ENSP00000312235:p.Asp335Tyr		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37		.	.	.	.	.	.	.	.	.	.	C	12.82	2.052219	0.36181	.	.	ENSG00000173702	ENST00000311075	D	0.87729	-2.29	4.08	-0.568	0.11760	.	1.288510	0.05157	N	0.496946	D	0.89269	0.6667	L	0.53249	1.67	0.09310	N	1	D	0.76494	0.999	P	0.62885	0.908	T	0.75235	-0.3389	10	0.66056	D	0.02	-17.5788	3.7128	0.08427	0.0:0.3931:0.1908:0.4162	.	335	Q9H3R2	MUC13_HUMAN	Y	335	ENSP00000312235:D335Y	ENSP00000312235:D335Y	D	-	1	0	MUC13	126115177	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.564000	0.05936	-0.111000	0.12001	0.455000	0.32223	GAT		0.423	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		A	124632487	C	A	124632487	3	1	571	1	0	0	0	0	1	0	0	0	9973	855	30	4	552	4	MUC13	3	124632487	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	72011802	124632487	73389943	16	31051											
SLC9A9	285195	hgsc.bcm.edu	37	3	142985575	142985575	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr3:142985575T>C	ENST00000316549.6	-	16	2115	c.1907A>G	c.(1906-1908)gAg>gGg	p.E636G		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	636					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CAAAGTTTGCTCAAGCTTGAG	0.473																																																0													103	99	100					3																	142985575		2203	4300	6503	SO:0001583	missense	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1907A>G	3.37:g.142985575T>C	ENSP00000320246:p.Glu636Gly		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395700	0.83011	.	.	ENSG00000181804	ENST00000316549	T	0.57595	0.39	5.69	5.69	0.88448	.	0.069540	0.64402	D	0.000016	T	0.51584	0.1683	M	0.63428	1.95	0.44337	D	0.997227	B	0.31318	0.319	B	0.26614	0.071	T	0.55412	-0.8145	10	0.72032	D	0.01	.	15.9584	0.79906	0.0:0.0:0.0:1.0	.	636	Q8IVB4	SL9A9_HUMAN	G	636	ENSP00000320246:E636G	ENSP00000320246:E636G	E	-	2	0	SLC9A9	144468265	1.000000	0.71417	0.988000	0.46212	0.977000	0.68977	3.832000	0.55783	2.165000	0.68154	0.528000	0.53228	GAG		0.473	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		C	142985575	T	C	142985575	3	2	571	1	0	0	0	0	1	0	0	0	14727	1551	54	3	34	3	SLC9A9	3	142985575	Missense_Mutation	SNP	T	TCGA-CZ-4854-01A-01D-1373-10	18353088	142985575	55036855	17	31052											
DHX36	170506	hgsc.bcm.edu;ucsc.edu	37	3	154018902	154018902	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr3:154018902T>C	ENST00000496811.1	-	10	1312	c.1232A>G	c.(1231-1233)cAa>cGa	p.Q411R	DHX36_ENST00000308361.6_Missense_Mutation_p.Q411R|DHX36_ENST00000329463.5_Missense_Mutation_p.Q411R|DHX36_ENST00000544526.1_Missense_Mutation_p.Q411R	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	411					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTGTTCTTTTTGTTCTGGAAC	0.303																																																0													73	75	74					3																	154018902		2203	4299	6502	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1232A>G	3.37:g.154018902T>C	ENSP00000417078:p.Gln411Arg		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479924	0.44044	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	5.89	4.74	0.60224	.	0.290348	0.42172	D	0.000760	T	0.06962	0.0177	N	0.10707	0.03	0.31627	N	0.649486	B;B;B	0.14012	0.001;0.009;0.005	B;B;B	0.14578	0.002;0.011;0.005	T	0.14364	-1.0475	10	0.19147	T	0.46	.	11.402	0.49875	0.0:0.07:0.0:0.93	.	411;411;411	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	R	411;411;411;411;325	ENSP00000417078:Q411R;ENSP00000309296:Q411R;ENSP00000444247:Q411R;ENSP00000330113:Q411R;ENSP00000419862:Q325R	ENSP00000309296:Q411R	Q	-	2	0	DHX36	155501596	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	4.842000	0.62831	2.250000	0.74265	0.455000	0.32223	CAA		0.303	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		C	154018902	T	C	154018902	3	2	571	1	0	0	0	0	1	0	0	0	4511	1812	63	3	1858	3	DHX36	3	154018902	Missense_Mutation	SNP	T	TCGA-CZ-4854-01A-01D-1373-10	11033327	154018902	44003528	18	31053											
IGF2BP2	10644	hgsc.bcm.edu;ucsc.edu	37	3	185376129	185376129	+	Splice_Site	SNP	A	A	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr3:185376129A>C	ENST00000382199.2	-	11	1364	c.1269T>G	c.(1267-1269)tcT>tcG	p.S423S	IGF2BP2_ENST00000457616.2_Splice_Site_p.S429S|IGF2BP2_ENST00000421047.2_Splice_Site_p.S366S|IGF2BP2_ENST00000346192.3_Splice_Site_p.S380S|IGF2BP2_ENST00000494906.1_5'UTR	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	423					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGGCACTTACAGAGTGATGAT	0.582																																																0													94	92	93					3																	185376129		2203	4300	6503	SO:0001630	splice_region_variant	10644			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1269+1T>G	3.37:g.185376129A>C			A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	ENST00000382199.2	37	CCDS3273.2																																																																																				0.582	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548	Silent	C	185376129	A	C	185376129	5	2	571	1	0	0	0	0	0	0	1	0	7576	202	7	5	554	5	IGF2BP2	3	185376129	Splice_Site	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	31357227	185376129	12646301	19	31054											
PPARGC1A	10891	hgsc.bcm.edu;ucsc.edu	37	4	23815962	23815962	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr4:23815962C>T	ENST00000264867.2	-	8	1263	c.1144G>A	c.(1144-1146)Ggt>Agt	p.G382S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	382	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCATGGTCACCAAACAGCCGC	0.458																																					Esophageal Squamous(29;694 744 13796 34866 44181)											0													72	77	75					4																	23815962		2203	4300	6503	SO:0001583	missense	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1144G>A	4.37:g.23815962C>T	ENSP00000264867:p.Gly382Ser		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101408	0.76983	.	.	ENSG00000109819	ENST00000264867	T	0.32988	1.43	6.16	6.16	0.99307	.	0.043448	0.85682	D	0.000000	T	0.54743	0.1877	L	0.53780	1.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42292	-0.9460	10	0.49607	T	0.09	-9.4747	20.8598	0.99761	0.0:1.0:0.0:0.0	.	382	Q9UBK2	PRGC1_HUMAN	S	382	ENSP00000264867:G382S	ENSP00000264867:G382S	G	-	1	0	PPARGC1A	23425060	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.535000	0.67173	2.937000	0.99478	0.650000	0.86243	GGT		0.458	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		T	23815962	C	T	23815962	3	4	571	1	0	0	0	0	1	0	0	0	12302	594	21	2	1276	2	PPARGC1A	4	23815962	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10		23815962	167338314	20	31055											
SLC4A4	8671	hgsc.bcm.edu	37	4	72400063	72400063	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr4:72400063A>C	ENST00000264485.5	+	18	2517	c.2400A>C	c.(2398-2400)caA>caC	p.Q800H	SLC4A4_ENST00000340595.3_Missense_Mutation_p.Q756H|SLC4A4_ENST00000425175.1_Missense_Mutation_p.Q800H|SLC4A4_ENST00000351898.6_Missense_Mutation_p.Q800H	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	800					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TGGACCAACAAATTACAGCTG	0.413																																																0													91	91	91					4																	72400063		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2400A>C	4.37:g.72400063A>C	ENSP00000264485:p.Gln800His		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013541	0.75161	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.69	-3.8	0.04307	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	M	0.78637	2.42	0.80722	D	1	D;B;D;D	0.89917	1.0;0.244;1.0;1.0	D;B;D;D	0.85130	0.997;0.183;0.993;0.996	D	0.87327	0.2322	10	0.66056	D	0.02	.	15.8434	0.78868	0.4125:0.0:0.5875:0.0	.	800;800;756;800	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	H	800;800;800;756	ENSP00000264485:Q800H;ENSP00000393557:Q800H;ENSP00000307349:Q800H;ENSP00000344272:Q756H	ENSP00000264485:Q800H	Q	+	3	2	SLC4A4	72618927	0.989000	0.36119	0.988000	0.46212	0.985000	0.73830	0.260000	0.18424	-0.451000	0.07097	-0.263000	0.10527	CAA		0.413	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		C	72400063	A	C	72400063	3	2	571	1	0	0	0	0	1	0	0	0	14662	11	1	5	2587	5	SLC4A4	4	72400063	Missense_Mutation	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	48584101	72400063	118754213	21	31056											
MTRR	4552	hgsc.bcm.edu;ucsc.edu	37	5	7875376	7875376	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr5:7875376G>T	ENST00000264668.2	+	4	400	c.370G>T	c.(370-372)Ggt>Tgt	p.G124C	MTRR_ENST00000440940.2_Missense_Mutation_p.G97C|MTRR_ENST00000341013.6_Silent_p.S45S|MTRR_ENST00000502509.1_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	124	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TCTAGGTCTCGGTGATTCAGA	0.348																																																0													110	117	115					5																	7875376		2203	4300	6503	SO:0001583	missense	4552			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.370G>T	5.37:g.7875376G>T	ENSP00000264668:p.Gly124Cys		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	CCDS3874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.84|16.84	3.233120|3.233120	0.58777|0.58777	.|.	.|.	ENSG00000124275|ENSG00000124275	ENST00000264668;ENST00000440940;ENST00000502550;ENST00000512217|ENST00000514220	D;D;D;D|.	0.93019|.	-3.15;-3.15;-3.15;-3.15|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Flavodoxin/nitric oxide synthase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91085|0.91085	0.7194|0.7194	H|H	0.98466|0.98466	4.24|4.24	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94148|0.94148	0.7403|0.7403	10|5	0.87932|.	D|.	0|.	-34.0986|-34.0986	19.6891|19.6891	0.95991|0.95991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	124|.	Q9UBK8|.	MTRR_HUMAN|.	C|L	124;97;97;97|25	ENSP00000264668:G124C;ENSP00000402510:G97C;ENSP00000424599:G97C;ENSP00000421318:G97C|.	ENSP00000264668:G124C|.	G|R	+|+	1|2	0|0	MTRR|MTRR	7928376|7928376	1.000000|1.000000	0.71417|0.71417	0.820000|0.820000	0.32676|0.32676	0.054000|0.054000	0.15201|0.15201	8.304000|8.304000	0.89958|0.89958	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.348	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			T	7875376	G	T	7875376	3	4	571	1	0	0	0	0	1	0	0	0	9963	1116	39	4	384	4	MTRR	5	7875376	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10		7875376	173039884	22	31057											
MAP3K1	4214	hgsc.bcm.edu	37	5	56178606	56178606	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr5:56178606G>C	ENST00000399503.3	+	14	3579	c.3579G>C	c.(3577-3579)atG>atC	p.M1193I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1193					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAATTGCCATGGCAATGTCAG	0.398																																																0													84	86	85					5																	56178606		2114	4251	6365	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3579G>C	5.37:g.56178606G>C	ENSP00000382423:p.Met1193Ile			Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.800115	0.50208	.	.	ENSG00000095015	ENST00000399503	T	0.68331	-0.32	6.17	6.17	0.99709	.	0.042575	0.85682	D	0.000000	T	0.63943	0.2554	L	0.47716	1.5	0.58432	D	0.999999	B	0.30406	0.278	B	0.24974	0.057	T	0.61431	-0.7064	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1193	Q13233	M3K1_HUMAN	I	1193	ENSP00000382423:M1193I	ENSP00000382423:M1193I	M	+	3	0	MAP3K1	56214363	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.121000	0.89582	2.941000	0.99782	0.655000	0.94253	ATG		0.398	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		C	56178606	G	C	56178606	3	2	571	1	0	0	0	0	1	0	0	0	9245	1348	47	4	3633	4	MAP3K1	5	56178606	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	48303230	56178606	124736654	23	31058											
DPYSL3	1809	hgsc.bcm.edu;ucsc.edu	37	5	146780285	146780285	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr5:146780285C>A	ENST00000398514.3	-	10	1451	c.1080G>T	c.(1078-1080)gaG>gaT	p.E360D	CTB-108O6.2_ENST00000607270.1_RNA|DPYSL3_ENST00000343218.5_Missense_Mutation_p.E474D|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	360					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACATCCGCTCCTCCACAC	0.567																																																0													114	120	118					5																	146780285		2203	4300	6503	SO:0001583	missense	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1080G>T	5.37:g.146780285C>A	ENSP00000381526:p.Glu360Asp		B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	CCDS43381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.11|11.11	1.542608|1.542608	0.27563|0.27563	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000520473|ENST00000398514;ENST00000343218	.|D;D	.|0.89939	.|-2.59;-2.59	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87577|0.87577	0.6212|0.6212	L|L	0.33189|0.33189	0.99|0.99	0.80722|0.80722	D|D	1|1	.|D;B	.|0.69078	.|0.997;0.038	.|D;B	.|0.76575	.|0.988;0.036	T|T	0.82744|0.82744	-0.0306|-0.0306	5|10	.|0.02654	.|T	.|1	-3.753|-3.753	7.5424|7.5424	0.27746|0.27746	0.0:0.8018:0.0:0.1982|0.0:0.8018:0.0:0.1982	.|.	.|474;360	.|B3SXQ8;Q14195	.|.;DPYL3_HUMAN	S|D	59|360;474	.|ENSP00000381526:E360D;ENSP00000343690:E474D	.|ENSP00000343690:E474D	A|E	-|-	1|3	0|2	DPYSL3|DPYSL3	146760478|146760478	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	0.627000|0.627000	0.24506|0.24506	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	GCG|GAG		0.567	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		A	146780285	C	A	146780285	3	1	571	1	0	0	0	0	1	0	0	0	4750	796	28	4	652	4	DPYSL3	5	146780285	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	90601679	146780285	34134975	24	31059											
F12	2161	hgsc.bcm.edu	37	5	176832137	176832137	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr5:176832137T>C	ENST00000253496.3	-	6	495	c.447A>G	c.(445-447)atA>atG	p.I149M	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	149	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	TTCTATACCATATCTCATTCT	0.552									Hereditary Angioedema																																							0													64	66	66					5																	176832137		2203	4300	6503	SO:0001583	missense	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.447A>G	5.37:g.176832137T>C	ENSP00000253496:p.Ile149Met		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	T	5.414	0.261503	0.10239	.	.	ENSG00000131187	ENST00000253496	T	0.43688	0.94	5.86	-8.32	0.00996	Fibronectin, type I (4);	1.030140	0.07709	N	0.941689	T	0.23054	0.0557	L	0.40543	1.245	0.09310	N	0.999998	B	0.26002	0.139	B	0.21917	0.037	T	0.29305	-1.0016	10	0.45353	T	0.12	.	1.2123	0.01907	0.3255:0.3302:0.1455:0.1988	.	149	P00748	FA12_HUMAN	M	149	ENSP00000253496:I149M	ENSP00000253496:I149M	I	-	3	3	F12	176764743	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.164000	0.03135	-0.926000	0.03770	-0.290000	0.09829	ATA		0.552	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			C	176832137	T	C	176832137	3	2	571	1	0	0	0	0	1	0	0	0	5341	1396	49	3	1436	3	F12	5	176832137	Missense_Mutation	SNP	T	TCGA-CZ-4854-01A-01D-1373-10	30051852	176832137	4083123	25	31060											
ERVFRDE1	405754	hgsc.bcm.edu	37	6	11105465	11105465	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr6:11105465T>C	ENST00000472091.1	-	2	454	c.79A>G	c.(79-81)Aaa>Gaa	p.K27E	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.K27E	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	27					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.K27E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TGCTGAGCTTTTTCCAATAAC	0.507																																																1	Substitution - Missense(1)	ovary(1)											59	60	59					6																	11105465		2203	4300	6503	SO:0001583	missense	0			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.79A>G	6.37:g.11105465T>C	ENSP00000420174:p.Lys27Glu			Missense_Mutation	SNP	ENST00000472091.1	37	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.386946	0.42308	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.15372	2.43;2.43	0.235	0.235	0.15431	.	.	.	.	.	T	0.02267	0.0070	N	0.14661	0.345	0.19575	N	0.999966	P	0.38110	0.618	B	0.25759	0.063	T	0.39482	-0.9612	8	0.62326	D	0.03	.	.	.	.	.	27	P60508	EFRD1_HUMAN	E	27	ENSP00000420174:K27E;ENSP00000444461:K27E	ENSP00000420174:K27E	K	-	1	0	ERVFRD-1	11213451	0.763000	0.28462	0.735000	0.30896	0.740000	0.42216	0.310000	0.19356	0.263000	0.21812	0.260000	0.18958	AAA		0.507	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		C	11105465	T	C	11105465	3	2	571	1	0	0	0	0	1	0	0	0	5248	1850	64	3	1541	3	ERVFRDE1	6	11105465	Missense_Mutation	SNP	T	TCGA-CZ-4854-01A-01D-1373-10		11105465	160009602	26	31061											
MDC1	9656	hgsc.bcm.edu;ucsc.edu	37	6	30672175	30672175	+	Silent	SNP	C	C	G			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr6:30672175C>G	ENST00000376406.3	-	10	5432	c.4785G>C	c.(4783-4785)cgG>cgC	p.R1595R	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.R1331R	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1595	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ACCTAGTGGCCCGAGATGTGG	0.587								Other conserved DNA damage response genes																																								0													116	129	124					6																	30672175		2203	4300	6503	SO:0001819	synonymous_variant	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4785G>C	6.37:g.30672175C>G			A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	CCDS34384.1																																																																																				0.587	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		G	30672175	C	G	30672175	2	3	571	1	0	0	0	0	0	0	0	1	9405	610	22	4		4	MDC1	6	30672175	Silent	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	19566710	30672175	140442892	27	31062											
ITPR3	3710	hgsc.bcm.edu;ucsc.edu	37	6	33635679	33635679	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr6:33635679G>T	ENST00000374316.5	+	17	2884	c.1824G>T	c.(1822-1824)aaG>aaT	p.K608N	ITPR3_ENST00000605930.1_Missense_Mutation_p.K608N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	608					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.K608K(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCCTGGAAAAGCACATCACCA	0.627																																																1	Substitution - coding silent(1)	large_intestine(1)											192	147	162					6																	33635679		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1824G>T	6.37:g.33635679G>T	ENSP00000363435:p.Lys608Asn		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105428	0.77096	.	.	ENSG00000096433	ENST00000374316	D	0.95622	-3.76	5.27	3.46	0.39613	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	M	0.90198	3.095	0.54753	D	0.999984	D	0.53619	0.961	P	0.57846	0.828	D	0.95899	0.8913	10	0.87932	D	0	-38.0154	9.4834	0.38915	0.2215:0.0:0.7785:0.0	.	608	Q14573	ITPR3_HUMAN	N	608	ENSP00000363435:K608N	ENSP00000363435:K608N	K	+	3	2	ITPR3	33743657	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.125000	0.42016	0.585000	0.29608	0.555000	0.69702	AAG		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		T	33635679	G	T	33635679	3	4	571	1	0	0	0	0	1	0	0	0	7924	962	34	4	1886	4	ITPR3	6	33635679	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	2963504	33635679	137479388	28	31063											
RNF217	154214	hgsc.bcm.edu	37	6	125366368	125366368	+	Silent	SNP	C	C	G			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr6:125366368C>G	ENST00000521654.2	+	2	894	c.894C>G	c.(892-894)ggC>ggG	p.G298G	RNF217_ENST00000560949.1_Silent_p.G63G|RNF217_ENST00000454842.2_3'UTR|RNF217_ENST00000359704.2_Silent_p.G6G|RNF217_ENST00000275184.6_5'Flank|RNF217_ENST00000368414.2_5'UTR			Q8TC41	RN217_HUMAN	ring finger protein 217	298					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		TACAACTTGGCCAAGTAGAAA	0.343																																																0													87	81	83					6																	125366368		2203	4300	6503	SO:0001819	synonymous_variant	154214			BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"RING-type (C3HC4) zinc fingers"	21487	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 172", "IBR domain containing 1"	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.894C>G	6.37:g.125366368C>G			H7C5V4|Q5TCA4|Q9BX48	Silent	SNP	ENST00000521654.2	37																																																																																					0.343	RNF217-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000042063.3	NM_152553		G	125366368	C	G	125366368	2	3	571	1	0	0	0	0	0	0	0	1	13487	726	26	4		4	RNF217	6	125366368	Silent	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	91730689	125366368	45748699	29	31064											
AHR	196	hgsc.bcm.edu;ucsc.edu	37	7	17378783	17378783	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr7:17378783C>T	ENST00000242057.4	+	10	1977	c.1334C>T	c.(1333-1335)aCt>aTt	p.T445I	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	445					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ACCACATCCACTCTAAGCAAG	0.443																																																0													123	113	116					7																	17378783		2203	4300	6503	SO:0001583	missense	196			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1334C>T	7.37:g.17378783C>T	ENSP00000242057:p.Thr445Ile		A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	3.924	-0.017509	0.07681	.	.	ENSG00000106546	ENST00000242057	T	0.05382	3.45	5.88	4.98	0.66077	.	0.428625	0.23191	N	0.050919	T	0.11495	0.0280	M	0.68317	2.08	0.09310	N	1	P	0.41475	0.751	B	0.41723	0.365	T	0.14392	-1.0474	10	0.21540	T	0.41	.	16.8195	0.85742	0.0:0.8713:0.1287:0.0	.	445	P35869	AHR_HUMAN	I	445	ENSP00000242057:T445I	ENSP00000242057:T445I	T	+	2	0	AHR	17345308	0.000000	0.05858	0.011000	0.14972	0.007000	0.05969	1.073000	0.30691	1.426000	0.47256	0.655000	0.94253	ACT		0.443	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		T	17378783	C	T	17378783	3	4	571	1	0	0	0	0	1	0	0	0	416	565	20	2	1372	2	AHR	7	17378783	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10		17378783	141759880	30	31065											
POU6F2	11281	hgsc.bcm.edu;ucsc.edu	37	7	39472854	39472854	+	Missense_Mutation	SNP	C	C	T	rs146637189		TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr7:39472854C>T	ENST00000403058.1	+	8	1359	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	POU6F2_ENST00000518318.2_Missense_Mutation_p.T402M|POU6F2_ENST00000559001.1_Missense_Mutation_p.T347M	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	402	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGGGCATCACGCTGTCACCC	0.587																																																0													101	77	85					7																	39472854		2203	4300	6503	SO:0001583	missense	11281			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1205C>T	7.37:g.39472854C>T	ENSP00000384004:p.Thr402Met		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227053	0.79576	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.86164	-2.04;-2.08	5.82	5.82	0.92795	.	0.481200	0.23418	N	0.048384	D	0.90386	0.6991	L	0.29908	0.895	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	D	0.89703	0.3906	10	0.44086	T	0.13	.	20.0871	0.97801	0.0:1.0:0.0:0.0	.	402	P78424	PO6F2_HUMAN	M	402	ENSP00000384004:T402M;ENSP00000430514:T402M	ENSP00000384004:T402M	T	+	2	0	POU6F2	39439379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.782000	0.85680	2.748000	0.94277	0.650000	0.86243	ACG		0.587	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		T	39472854	C	T	39472854	3	4	571	1	0	0	0	0	1	0	0	0	12287	536	19	1	1231	1	POU6F2	7	39472854	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	22094071	39472854	119665809	31	31066											
BLK	640	hgsc.bcm.edu;ucsc.edu	37	8	11415475	11415475	+	Silent	SNP	C	C	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr8:11415475C>T	ENST00000259089.4	+	10	1549	c.957C>T	c.(955-957)tgC>tgT	p.C319C	RP11-148O21.4_ENST00000528629.1_RNA|BLK_ENST00000529894.1_Silent_p.C248C|RP11-148O21.2_ENST00000533322.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCTTAGGATGCCTGCTGGATT	0.562																																																0													125	105	112					8																	11415475		2203	4300	6503	SO:0001819	synonymous_variant	640			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.957C>T	8.37:g.11415475C>T			Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	CCDS5982.1																																																																																				0.562	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			T	11415475	C	T	11415475	2	4	571	1	0	0	0	0	0	0	0	1	1444	747	26	2		2	BLK	8	11415475	Silent	SNP	C	TCGA-CZ-4854-01A-01D-1373-10		11415475	134948547	32	31067											
ARFGEF1	10565	hgsc.bcm.edu;ucsc.edu	37	8	68128844	68128844	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr8:68128844G>C	ENST00000262215.3	-	33	5056	c.4667C>G	c.(4666-4668)cCt>cGt	p.P1556R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P1010R|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.P394R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1556					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCACTTACAGGAGATGGAGG	0.398																																																0													54	58	56					8																	68128844		2203	4300	6503	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4667C>G	8.37:g.68128844G>C	ENSP00000262215:p.Pro1556Arg		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.388984	0.25118	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.40476	1.03;1.03;1.03	5.79	4.91	0.64330	.	0.862209	0.10585	N	0.657500	T	0.25158	0.0611	N	0.14661	0.345	0.24656	N	0.993491	B;B;B	0.14012	0.004;0.009;0.009	B;B;B	0.20184	0.004;0.028;0.028	T	0.28073	-1.0055	10	0.14656	T	0.56	.	7.6323	0.28247	0.0831:0.0:0.7541:0.1628	.	1556;1034;1010	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	R	1010;1556;394	ENSP00000428429:P1010R;ENSP00000262215:P1556R;ENSP00000430891:P394R	ENSP00000262215:P1556R	P	-	2	0	ARFGEF1	68291398	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	3.506000	0.53364	1.432000	0.47375	0.655000	0.94253	CCT		0.398	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		C	68128844	G	C	68128844	3	2	571	1	0	0	0	0	1	0	0	0	852	1000	35	4	910	4	ARFGEF1	8	68128844	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	56713369	68128844	78235178	33	31068											
TMEM70	54968	hgsc.bcm.edu	37	8	74893388	74893388	+	Splice_Site	SNP	A	A	G	rs183973249		TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr8:74893388A>G	ENST00000312184.5	+	3	389		c.e3-1		TMEM70_ENST00000517439.1_Splice_Site|Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70						mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			TTTCCCATTTAGGTGTGAAAT	0.323													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19275	0.0		0.0	False		,,,				2504	0.0															0			GRCh37	CS084884	TMEM70	S	rs183973249						74	72	73					8																	74893388		2203	4299	6502	SO:0001630	splice_region_variant	54968			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.317-1A>G	8.37:g.74893388A>G			E9PDY9|Q9NWY5	Splice_Site	SNP	ENST00000312184.5	37	CCDS6215.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	18.55	3.649294	0.67358	.	.	ENSG00000175606	ENST00000312184	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.499	0.75680	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM70	75055942	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.579000	0.90781	2.244000	0.73946	0.533000	0.62120	.		0.323	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866	Intron	G	74893388	A	G	74893388	5	3	571	1	0	0	0	0	0	0	1	0	16204	434	15	3	333	3	TMEM70	8	74893388	Splice_Site	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	6764544	74893388	71470634	34	31069											
NAPRT1	93100	hgsc.bcm.edu	37	8	144658711	144658711	+	Silent	SNP	G	G	A	rs872935	byFrequency	TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr8:144658711G>A	ENST00000449291.2	-	7	1207	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	NAPRT1_ENST00000435154.3_Silent_p.L305L|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Silent_p.L305L|NAPRT1_ENST00000276844.7_Silent_p.L305L|NAPRT1_ENST00000460623.1_5'Flank																endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCAGGGCCAGGGCGACTGCT	0.627													G|||	1990	0.397364	0.1672	0.4611	5008	,	,		17958	0.3938		0.6262	False		,,,				2504	0.4315															0								G		1024,3376	356.4+/-313.5	121,782,1297	27	27	27		913	1.4	0.7	8	dbSNP_86	27	5389,3211	629.3+/-398.2	1704,1981,615	no	coding-synonymous	NAPRT1	NM_145201.4		1825,2763,1912	AA,AG,GG		37.3372,23.2727,49.3308		305/539	144658711	6413,6587	2200	4300	6500	SO:0001819	synonymous_variant	93100																														ENST00000449291.2:c.913C>T	8.37:g.144658711G>A				Silent	SNP	ENST00000449291.2	37	CCDS6403.2																																																																																				0.627	NAPRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346708.3			A	144658711	G	A	144658711	2	1	571	1	0	0	0	0	0	0	0	1	10167	991	35	2		2	NAPRT1	8	144658711	Silent	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	69765323	144658711	1705311	35	31070											
RECQL4	9684	hgsc.bcm.edu;ucsc.edu	37	8	145740784	145740784	+	5'Flank	SNP	G	G	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr8:145740784G>T	ENST00000292524.1	+	0	0				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000428558.2_Missense_Mutation_p.P439H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTCAGGTACAGGTTGTGGTGA	0.632																																																0													67	76	73					8																	145740784		2056	4194	6250	SO:0001631	upstream_gene_variant	9401			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145740784G>T	Exception_encountered		A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	CCDS6432.1																																																																																				0.632	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		T	145740784	G	T	145740784	1	4	571	0	1	0	0	0	0	0	0	0	13208	1000	35	4		4	RECQL4	8	145740784	5'Flank	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	1082073	145740784	623238	36	31071											
FKBP15	23307	hgsc.bcm.edu;ucsc.edu	37	9	115931605	115931605	+	Silent	SNP	G	G	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr9:115931605G>A	ENST00000238256.3	-	26	3501	c.3384C>T	c.(3382-3384)gtC>gtT	p.V1128V		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1128					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TGGAGCTAGTGACATCATCTT	0.602																																																0													77	80	79					9																	115931605		2091	4202	6293	SO:0001819	synonymous_variant	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3384C>T	9.37:g.115931605G>A			Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	CCDS48007.1																																																																																				0.602	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		A	115931605	G	A	115931605	2	1	571	1	0	0	0	0	0	0	0	1	5907	1277	45	2		2	FKBP15	9	115931605	Silent	SNP	G	TCGA-CZ-4854-01A-01D-1373-10		115931605	25281826	37	31072											
OR5B3	441608	hgsc.bcm.edu;ucsc.edu	37	11	58170027	58170027	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr11:58170027G>T	ENST00000309403.2	-	1	855	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L286L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTATAGACCAGAGGGTTCAGC	0.428																																																1	Substitution - coding silent(1)	skin(1)											140	121	127					11																	58170027		2201	4295	6496	SO:0001583	missense	441608			AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.856C>A	11.37:g.58170027G>T	ENSP00000308270:p.Leu286Met		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	0.364	-0.937668	0.02340	.	.	ENSG00000172769	ENST00000309403	T	0.45668	0.89	4.06	-8.11	0.01082	GPCR, rhodopsin-like superfamily (1);	1.902410	0.02779	N	0.120619	T	0.26231	0.0640	L	0.38692	1.165	0.09310	N	1	B	0.32010	0.351	B	0.29267	0.1	T	0.13872	-1.0493	10	0.54805	T	0.06	0.2983	2.5094	0.04652	0.1574:0.1117:0.326:0.4049	.	286	Q8NH48	OR5B3_HUMAN	M	286	ENSP00000308270:L286M	ENSP00000308270:L286M	L	-	1	2	OR5B3	57926603	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-6.355000	0.00069	-2.490000	0.00517	-0.165000	0.13383	CTG		0.428	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		T	58170027	G	T	58170027	3	4	571	1	0	0	0	0	1	0	0	0	11154	933	33	4	90	4	OR5B3	11	58170027	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10		58170027	76836489	38	31073											
SLC22A20	440044	hgsc.bcm.edu;ucsc.edu	37	11	64985140	64985140	+	RNA	SNP	T	T	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr11:64985140T>A	ENST00000525437.1	+	0	653							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TCTGGCATCATCCTCAACTCC	0.652																																																0													44	47	46					11																	64985140		1990	4153	6143			440044			DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"Solute carriers"	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64985140T>A			B9EJB2|Q6ZN88	Missense_Mutation	SNP	ENST00000525437.1	37																																																																																					0.652	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		A	64985140	T	A	64985140	1	1	571	0	1	0	0	0	0	0	0	0	14457	1435	50	5		5	SLC22A20	11	64985140	RNA	SNP	T	TCGA-CZ-4854-01A-01D-1373-10	6815113	64985140	70021376	39	31074											
KRTAP5-10	387273	hgsc.bcm.edu	37	11	71276827	71276827	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr11:71276827G>T	ENST00000398531.1	+	1	219	c.194G>T	c.(193-195)gGc>gTc	p.G65V	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.G65V	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	65	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCAGCTGTGGCTCCTGTGGG	0.682																																																0													61	82	75					11																	71276827		2173	4252	6425	SO:0001583	missense	387273			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.194G>T	11.37:g.71276827G>T	ENSP00000381542:p.Gly65Val		B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	g	2.065	-0.414339	0.04766	.	.	ENSG00000204572	ENST00000398531;ENST00000376536	T;T	0.01228	5.16;5.14	1.67	1.67	0.24075	.	.	.	.	.	T	0.08223	0.0205	M	0.88640	2.97	0.48185	D	0.999602	D	0.76494	0.999	D	0.72075	0.976	T	0.03875	-1.0996	9	0.54805	T	0.06	.	9.3455	0.38107	0.0:0.0:1.0:0.0	.	65	Q6L8G5	KR510_HUMAN	V	65	ENSP00000381542:G65V;ENSP00000365719:G65V	ENSP00000365719:G65V	G	+	2	0	KRTAP5-10	70954475	0.990000	0.36364	0.970000	0.41538	0.310000	0.27922	2.237000	0.43061	1.285000	0.44548	0.405000	0.27470	GGC		0.682	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			T	71276827	G	T	71276827	3	4	571	1	0	0	0	0	1	0	0	0	8561	1203	42	4	196	4	KRTAP5-10	11	71276827	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	6291687	71276827	63729689	40	31075											
ARHGEF17	9828	hgsc.bcm.edu	37	11	73068089	73068089	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr11:73068089A>T	ENST00000263674.3	+	8	4261	c.3911A>T	c.(3910-3912)aAg>aTg	p.K1304M	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1304					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTGGCAAGAAGGACCGGTCT	0.612																																																0													108	87	94					11																	73068089		2200	4293	6493	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3911A>T	11.37:g.73068089A>T	ENSP00000263674:p.Lys1304Met		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903437	0.72754	.	.	ENSG00000110237	ENST00000263674	T	0.37411	1.2	4.8	4.8	0.61643	Pleckstrin homology-type (1);	0.052880	0.85682	D	0.000000	T	0.58652	0.2137	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63492	-0.6625	10	0.87932	D	0	-26.6305	13.6833	0.62499	1.0:0.0:0.0:0.0	.	1304	Q96PE2	ARHGH_HUMAN	M	1304	ENSP00000263674:K1304M	ENSP00000263674:K1304M	K	+	2	0	ARHGEF17	72745737	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	9.114000	0.94329	2.016000	0.59253	0.402000	0.26972	AAG		0.612	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		T	73068089	A	T	73068089	3	4	571	1	0	0	0	0	1	0	0	0	900	72	3	5	3941	5	ARHGEF17	11	73068089	Missense_Mutation	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	1791262	73068089	61938427	41	31076											
GDPD5	81544	hgsc.bcm.edu	37	11	75188686	75188686	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr11:75188686C>T	ENST00000336898.3	-	3	932	c.95G>A	c.(94-96)cGc>cAc	p.R32H	GDPD5_ENST00000443276.2_Missense_Mutation_p.R32H|GDPD5_ENST00000376282.3_Missense_Mutation_p.R32H|GDPD5_ENST00000533784.1_Missense_Mutation_p.R32H|GDPD5_ENST00000529721.1_Missense_Mutation_p.R32H	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	32					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						ATCATGGGAGCGCTGGTAGCG	0.632																																																0													45	40	42					11																	75188686		2200	4293	6493	SO:0001583	missense	81544			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.95G>A	11.37:g.75188686C>T	ENSP00000337972:p.Arg32His		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769591	0.69992	.	.	ENSG00000158555	ENST00000533784;ENST00000529721;ENST00000336898;ENST00000376282;ENST00000443276;ENST00000532435	T;T;T;T;T	0.34667	2.11;1.35;1.35;2.11;1.35	4.88	4.88	0.63580	.	0.124090	0.53938	D	0.000055	T	0.53481	0.1799	L	0.47016	1.485	0.58432	D	0.999994	D;B	0.89917	1.0;0.322	D;B	0.87578	0.998;0.033	T	0.53578	-0.8419	10	0.54805	T	0.06	-24.3836	15.9013	0.79380	0.0:1.0:0.0:0.0	.	32;32	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	H	32	ENSP00000437049:R32H;ENSP00000433214:R32H;ENSP00000337972:R32H;ENSP00000365459:R32H;ENSP00000396535:R32H	ENSP00000337972:R32H	R	-	2	0	GDPD5	74866334	1.000000	0.71417	0.914000	0.36105	0.975000	0.68041	7.396000	0.79891	2.406000	0.81754	0.655000	0.94253	CGC		0.632	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		T	75188686	C	T	75188686	3	4	571	1	0	0	0	0	1	0	0	0	6329	768	27	1	1782	1	GDPD5	11	75188686	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	2120597	75188686	59817830	42	31077											
EXPH5	23086	hgsc.bcm.edu	37	11	108385374	108385374	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr11:108385374A>G	ENST00000265843.4	-	6	970	c.860T>C	c.(859-861)tTt>tCt	p.F287S	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.F280S|EXPH5_ENST00000428840.1_Missense_Mutation_p.F211S|EXPH5_ENST00000443411.1_Missense_Mutation_p.F99S	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	287					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.F287S(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCTAGGAGAAAAGGTTTTAAA	0.363																																																1	Substitution - Missense(1)	ovary(1)											95	90	92					11																	108385374		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.860T>C	11.37:g.108385374A>G	ENSP00000265843:p.Phe287Ser		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.460487	0.63401	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.06294	3.92;3.83;3.69;3.92;3.73;3.32	5.67	5.67	0.87782	.	0.105878	0.42548	D	0.000685	T	0.19446	0.0467	M	0.69823	2.125	0.31610	N	0.651609	D	0.89917	1.0	D	0.85130	0.997	T	0.26710	-1.0095	10	0.66056	D	0.02	-20.0778	5.0773	0.14638	0.708:0.1762:0.1158:0.0	.	287	Q8NEV8	EXPH5_HUMAN	S	287;211;99;280;131;211;99	ENSP00000265843:F287S;ENSP00000391966:F211S;ENSP00000411390:F99S;ENSP00000432546:F280S;ENSP00000432683:F211S;ENSP00000446434:F99S	ENSP00000265843:F287S	F	-	2	0	EXPH5	107890584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.272000	0.51616	2.154000	0.67381	0.533000	0.62120	TTT		0.363	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		G	108385374	A	G	108385374	3	3	571	1	0	0	0	0	1	0	0	0	5324	14	1	3	5113	3	EXPH5	11	108385374	Missense_Mutation	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	33196688	108385374	26621142	43	31078											
TRIM29	23650	hgsc.bcm.edu	37	11	119996570	119996570	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr11:119996570A>G	ENST00000341846.5	-	4	1583	c.1162T>C	c.(1162-1164)Tct>Cct	p.S388P	TRIM29_ENST00000541857.1_Missense_Mutation_p.S121P|TRIM29_ENST00000529044.1_Missense_Mutation_p.S127P|TRIM29_ENST00000524816.3_5'Flank|TRIM29_ENST00000528870.1_5'Flank	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	388					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S388T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGGGGGAGAGAGTAATTGCTC	0.532																																																1	Substitution - Missense(1)	ovary(1)											63	59	60					11																	119996570		2199	4295	6494	SO:0001583	missense	23650			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1162T>C	11.37:g.119996570A>G	ENSP00000343129:p.Ser388Pro		Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	A	9.580	1.123225	0.20959	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.39787	1.06	4.09	4.09	0.47781	.	0.556436	0.17301	N	0.179254	T	0.29061	0.0722	N	0.08118	0	0.30207	N	0.798075	B;D;B	0.56968	0.003;0.978;0.0	B;P;B	0.53146	0.006;0.719;0.001	T	0.07046	-1.0793	9	.	.	.	.	5.1569	0.15040	0.6308:0.2021:0.0:0.1671	.	121;127;388	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	P	388;121;127	ENSP00000343129:S388P	.	S	-	1	0	TRIM29	119501780	0.935000	0.31712	1.000000	0.80357	0.986000	0.74619	1.658000	0.37376	1.858000	0.53909	0.533000	0.62120	TCT		0.532	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		G	119996570	A	G	119996570	3	3	571	1	0	0	0	0	1	0	0	0	16508	304	11	3	628	3	TRIM29	11	119996570	Missense_Mutation	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	11611196	119996570	15009946	44	31079											
HSPA8	3312	hgsc.bcm.edu	37	11	122928453	122928453	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr11:122928453C>T	ENST00000532636.1	-	9	2049	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.E625K|HSPA8_ENST00000534319.1_Missense_Mutation_p.E408K|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.E498K|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.E644K|HSPA8_ENST00000534624.1_Missense_Mutation_p.E644K|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.E491K			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	644					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAATCAACCTCTTCAATGGTG	0.483																																					Colon(21;486 594 5900 6733 14272)											0													65	68	67					11																	122928453		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1930G>A	11.37:g.122928453C>T	ENSP00000437125:p.Glu644Lys		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495820	0.85069	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110	T;T;T;T;T;T;T	0.09350	5.06;4.43;5.06;2.99;5.06;4.0;5.1	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	M	0.94021	3.485	0.80722	D	1	P;P;P	0.37398	0.458;0.593;0.458	B;P;P	0.51742	0.292;0.486;0.678	T	0.52563	-0.8559	10	0.87932	D	0	-16.0469	17.8802	0.88838	0.0:1.0:0.0:0.0	.	644;491;644	Q53GZ6;P11142-2;P11142	.;.;HSP7C_HUMAN	K	644;498;644;491;644;408;625	ENSP00000437125:E644K;ENSP00000437189:E498K;ENSP00000432083:E644K;ENSP00000404372:E491K;ENSP00000227378:E644K;ENSP00000433316:E408K;ENSP00000433584:E625K	ENSP00000227378:E644K	E	-	1	0	HSPA8	122433663	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.815000	0.86186	2.285000	0.76669	0.561000	0.74099	GAG		0.483	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			T	122928453	C	T	122928453	3	4	571	1	0	0	0	0	1	0	0	0	7418	922	32	2	14	2	HSPA8	11	122928453	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	2931883	122928453	12078063	45	31080											
GRAMD1B	57476	hgsc.bcm.edu;ucsc.edu	37	11	123489493	123489493	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr11:123489493T>A	ENST00000529750.1	+	18	2321	c.1994T>A	c.(1993-1995)cTa>cAa	p.L665Q	GRAMD1B_ENST00000450171.2_Missense_Mutation_p.L352Q|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.L672Q|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.L665Q	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	665						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGGCAGGGTCTAAGGCTCCAA	0.547																																																0													47	49	48					11																	123489493		2049	4190	6239	SO:0001583	missense	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1994T>A	11.37:g.123489493T>A	ENSP00000436500:p.Leu665Gln		Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.286113	0.80803	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.55052	1.52;1.54;1.52;1.55;0.54	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000003	T	0.71204	0.3312	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;P;D	0.91635	0.961;0.999;0.896;0.984	T	0.73251	-0.4042	10	0.46703	T	0.11	.	14.3952	0.67005	0.0:0.0:0.0:1.0	.	621;352;665;672	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	Q	672;672;665;665;625;352	ENSP00000402457:L672Q;ENSP00000325628:L665Q;ENSP00000436500:L665Q;ENSP00000432987:L625Q;ENSP00000388458:L352Q	ENSP00000325628:L665Q	L	+	2	0	GRAMD1B	122994703	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	7.925000	0.87563	1.938000	0.56188	0.374000	0.22700	CTA		0.547	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		A	123489493	T	A	123489493	3	1	571	1	0	0	0	0	1	0	0	0	6750	1522	53	5	2064	5	GRAMD1B	11	123489493	Missense_Mutation	SNP	T	TCGA-CZ-4854-01A-01D-1373-10	561040	123489493	11517023	46	31081											
SLC48A1	55652	hgsc.bcm.edu;ucsc.edu	37	12	48172917	48172917	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr12:48172917C>A	ENST00000442218.2	+	2	340	c.243C>A	c.(241-243)ttC>ttA	p.F81L	SLC48A1_ENST00000476104.1_3'UTR|SLC48A1_ENST00000442892.2_Missense_Mutation_p.F24L|SLC48A1_ENST00000547002.1_Missense_Mutation_p.F24L	NM_017842.2	NP_060312.2	Q6P1K1	HRG1_HUMAN	solute carrier family 48 (heme transporter), member 1	81					heme transport (GO:0015886)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	heme transporter activity (GO:0015232)			large_intestine(1)|lung(3)|urinary_tract(1)	5						GCGTCCTCTTCTCGGCCGTCT	0.622											OREG0021755	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													166	139	147					12																	48172917		692	1591	2283	SO:0001583	missense	55652				CCDS8755.2	12q13.11	2013-05-22			ENSG00000211584	ENSG00000211584		"Solute carriers"	26035	protein-coding gene	gene with protein product		612187				18418376	Standard	NM_017842		Approved	FLJ20489, hHRG-1, HRG1	uc001rqd.3	Q6P1K1	OTTHUMG00000156983	ENST00000442218.2:c.243C>A	12.37:g.48172917C>A	ENSP00000415998:p.Phe81Leu	952	Q9BUB3|Q9NX17	Missense_Mutation	SNP	ENST00000442218.2	37	CCDS8755.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175867	0.78564	.	.	ENSG00000211584	ENST00000548498;ENST00000547002;ENST00000442892;ENST00000442218;ENST00000432662	.	.	.	4.91	4.02	0.46733	.	.	.	.	.	T	0.65554	0.2702	L	0.41824	1.3	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.63418	-0.6642	8	0.34782	T	0.22	.	12.8195	0.57685	0.0:0.9182:0.0:0.0818	.	81	Q6P1K1	HRG1_HUMAN	L	24;24;24;81;81	.	ENSP00000389956:F81L	F	+	3	2	SLC48A1	46459184	1.000000	0.71417	0.997000	0.53966	0.737000	0.42083	4.698000	0.61789	1.389000	0.46526	0.655000	0.94253	TTC		0.622	SLC48A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346966.1	NM_017842		A	48172917	C	A	48172917	3	1	571	1	0	0	0	0	1	0	0	0	14655	912	32	4	249	4	SLC48A1	12	48172917	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10		48172917	85678978	47	31082											
CNPY2	10330	hgsc.bcm.edu;ucsc.edu	37	12	56705186	56705186	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr12:56705186G>A	ENST00000273308.4	-	4	757	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CNPY2_ENST00000551720.1_Intron|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R73C|RP11-977G19.12_ENST00000546789.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	73	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						GCCTCTGAGCGGGCATAAGGC	0.478																																																0													108	107	108					12																	56705186		2203	4300	6503	SO:0001583	missense	10330			AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.217C>T	12.37:g.56705186G>A	ENSP00000273308:p.Arg73Cys		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829476	0.71258	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.13	5.13	0.70059	Saposin B (1);	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66638	-0.5873	10	0.66056	D	0.02	-11.3518	11.487	0.50358	0.0:0.0:0.7126:0.2874	.	73	Q9Y2B0	CNPY2_HUMAN	C	73;73;73;21	ENSP00000446743:R73C;ENSP00000273308:R73C;ENSP00000448809:R73C;ENSP00000446784:R21C	ENSP00000273308:R73C	R	-	1	0	RP11-977G19.10;CNPY2	54991453	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.550000	0.60733	2.578000	0.87016	0.561000	0.74099	CGC		0.478	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		A	56705186	G	A	56705186	3	1	571	1	0	0	0	0	1	0	0	0	3630	1116	39	1	343	1	CNPY2	12	56705186	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	8532269	56705186	77146709	48	31083											
DPY19L2	283417	hgsc.bcm.edu	37	12	64062052	64062052	+	Missense_Mutation	SNP	G	G	A	rs10878074	byFrequency	TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr12:64062052G>A	ENST00000324472.4	-	1	305	c.122C>T	c.(121-123)gCc>gTc	p.A41V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	41			A -> V (in dbSNP:rs10878074). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCCGCCTAGGGCCGACTTTTC	0.657													G|||	1979	0.395168	0.4425	0.2565	5008	,	,		14964	0.5714		0.1978	False		,,,				2504	0.4509															0								G	VAL/ALA	1679,2717		309,1061,828	32	41	38		122	-0.6	0	12	dbSNP_120	38	1704,6888		179,1346,2771	yes	missense	DPY19L2	NM_173812.4	64	488,2407,3599	AA,AG,GG		19.8324,38.1938,26.0471	benign	41/759	64062052	3383,9605	2198	4296	6494	SO:0001583	missense	283417				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.122C>T	12.37:g.64062052G>A	ENSP00000315988:p.Ala41Val		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	766	0.3507326007326007	189	0.38414634146341464	99	0.27348066298342544	330	0.5769230769230769	148	0.19525065963060687	G	4.869	0.161472	0.09287	0.381938	0.198324	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.39787	1.06;1.82	1.61	-0.623	0.11556	.	0.555051	0.14868	N	0.293715	T	0.00012	0.0000	N	0.19112	0.55	0.58432	P	1.0000000000287557E-6	B	0.10296	0.003	B	0.04013	0.001	T	0.44937	-0.9295	8	.	.	.	.	2.4499	0.04516	0.2454:0.3274:0.4272:0.0	rs10878074	41	Q6NUT2	D19L2_HUMAN	V	41	ENSP00000315988:A41V;ENSP00000444932:A41V	.	A	-	2	0	DPY19L2	62348319	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.946000	0.29069	-0.190000	0.10465	0.195000	0.17529	GCC		0.657	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		A	64062052	G	A	64062052	3	1	571	1	0	0	0	0	1	0	0	0	4743	1203	42	2	2242	2	DPY19L2	12	64062052	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	7356866	64062052	69789843	49	31084											
OAS2	4939	hgsc.bcm.edu;ucsc.edu	37	12	113448226	113448226	+	Silent	SNP	C	C	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr12:113448226C>T	ENST00000342315.4	+	11	2311	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_3'UTR	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	699					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCCTATTGTCAATGAGATGT	0.388																																					Pancreas(199;709 2232 18410 33584 35052)											0													242	251	248					12																	113448226		2203	4300	6503	SO:0001819	synonymous_variant	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2097C>T	12.37:g.113448226C>T			A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	CCDS31906.1																																																																																				0.388	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			T	113448226	C	T	113448226	2	4	571	1	0	0	0	0	0	0	0	1	10802	813	29	2		2	OAS2	12	113448226	Silent	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	49386174	113448226	20403669	50	31085											
MPHOSPH8	54737	hgsc.bcm.edu	37	13	20220763	20220763	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr13:20220763C>A	ENST00000361479.5	+	3	618	c.550C>A	c.(550-552)Cca>Aca	p.P184T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.P184T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	184	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CAAGTCCAAACCAGACCTGGA	0.378																																																0													31	34	33					13																	20220763		2203	4300	6503	SO:0001583	missense	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.550C>A	13.37:g.20220763C>A	ENSP00000355388:p.Pro184Thr		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.137475	0.00030	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.34667	1.36;1.35	5.45	-6.13	0.02118	.	1.239540	0.05220	N	0.508344	T	0.11110	0.0271	N	0.04203	-0.255	0.09310	N	1	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.10450	0.002;0.005;0.001	T	0.20472	-1.0274	10	0.06099	T	0.92	.	1.4914	0.02457	0.1964:0.3667:0.1361:0.3008	.	184;184;184	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	T	184	ENSP00000414663:P184T;ENSP00000355388:P184T	ENSP00000355388:P184T	P	+	1	0	MPHOSPH8	19118763	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.273000	0.02823	-1.406000	0.02045	-2.084000	0.00378	CCA		0.378	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		A	20220763	C	A	20220763	3	1	571	1	0	0	0	0	1	0	0	0	9729	507	18	4	560	4	MPHOSPH8	13	20220763	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10		20220763	94949115	51	31086											
PABPC3	5042	hgsc.bcm.edu;ucsc.edu	37	13	25670873	25670873	+	Silent	SNP	A	A	G	rs77142265	byFrequency	TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr13:25670873A>G	ENST00000281589.3	+	1	574	c.537A>G	c.(535-537)cgA>cgG	p.R179R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	179					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTAAAGAACGAGAAGCTGAAC	0.408													a|||	274	0.0547125	0.0779	0.0591	5008	,	,		22193	0.0347		0.0318	False		,,,				2504	0.0644															0													103	96	98					13																	25670873		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.537A>G	13.37:g.25670873A>G			Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																				0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		G	25670873	A	G	25670873	2	3	571	1	0	0	0	0	0	0	0	1	11367	291	11	3		3	PABPC3	13	25670873	Silent	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	5450110	25670873	89499005	52	31087	227	2									
PABPC3	5042	hgsc.bcm.edu	37	13	25670877	25670877	+	Missense_Mutation	SNP	G	G	A	rs112107735	byFrequency	TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr13:25670877G>A	ENST00000281589.3	+	1	578	c.541G>A	c.(541-543)Gct>Act	p.A181T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	181					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGAACGAGAAGCTGAACTTGG	0.403													g|||	36	0.0071885	0.0151	0.0043	5008	,	,		22319	0.002		0.003	False		,,,				2504	0.0082															0													101	95	97					13																	25670877		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.541G>A	13.37:g.25670877G>A	ENSP00000281589:p.Ala181Thr		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133453	0.56828	.	.	ENSG00000151846	ENST00000281589	D	0.85629	-2.01	0.828	0.828	0.18841	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.46758	U	0.000272	T	0.80341	0.4605	M	0.69463	2.115	0.43275	D	0.995232	P	0.38335	0.627	B	0.37550	0.253	T	0.76849	-0.2807	10	0.51188	T	0.08	.	7.4633	0.27308	1.0E-4:0.0:0.9999:0.0	.	181	Q9H361	PABP3_HUMAN	T	181	ENSP00000281589:A181T	ENSP00000281589:A181T	A	+	1	0	PABPC3	24568877	1.000000	0.71417	0.873000	0.34254	0.379000	0.30106	4.761000	0.62243	0.748000	0.32831	0.305000	0.20034	GCT		0.403	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25670877	G	A	25670877	3	1	571	1	0	0	0	0	1	0	0	0	11367	971	34	2	543	2	PABPC3	13	25670877	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	4	25670877	89499001	53	31088	227	2									
THSD1	55901	hgsc.bcm.edu	37	13	52952681	52952681	+	Missense_Mutation	SNP	C	C	A	rs564794340		TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr13:52952681C>A	ENST00000258613.4	-	5	1602	c.1424G>T	c.(1423-1425)cGc>cTc	p.R475L	THSD1_ENST00000349258.4_Missense_Mutation_p.R422L|THSD1_ENST00000544466.1_Missense_Mutation_p.R96L	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	475					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GAAGCTCCCGCGCTGCTCGCT	0.652																																																0													44	50	48					13																	52952681		2203	4300	6503	SO:0001583	missense	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1424G>T	13.37:g.52952681C>A	ENSP00000258613:p.Arg475Leu		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	c	10.07	1.250143	0.22880	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.46063	1.54;0.88;1.75	6.06	2.38	0.29361	.	0.056490	0.64402	D	0.000003	T	0.51244	0.1663	M	0.72894	2.215	0.09310	N	0.999998	D;P	0.62365	0.991;0.661	P;B	0.55615	0.78;0.282	T	0.45556	-0.9253	10	0.87932	D	0	-9.1935	7.2606	0.26201	0.0:0.5997:0.2602:0.1401	.	422;475	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	L	422;96;475	ENSP00000340650:R422L;ENSP00000438512:R96L;ENSP00000258613:R475L	ENSP00000258613:R475L	R	-	2	0	THSD1	51850682	0.849000	0.29639	0.001000	0.08648	0.031000	0.12232	5.060000	0.64312	0.138000	0.18790	-0.142000	0.14014	CGC		0.652	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			A	52952681	C	A	52952681	3	1	571	1	0	0	0	0	1	0	0	0	15882	768	27	4	1138	4	THSD1	13	52952681	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	27281804	52952681	62217197	54	31089											
STON2	85439	hgsc.bcm.edu	37	14	81744471	81744471	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr14:81744471T>C	ENST00000267540.2	-	4	1384	c.1184A>G	c.(1183-1185)cAc>cGc	p.H395R	STON2_ENST00000555447.1_Missense_Mutation_p.H395R|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	395					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTGCCAAAGTGATCAGGGTC	0.493																																																0													88	84	85					14																	81744471		2203	4300	6503	SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1184A>G	14.37:g.81744471T>C	ENSP00000267540:p.His395Arg		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	T	0.296	-0.977016	0.02197	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.10763	2.84;2.84	6.17	-1.7	0.08159	.	0.585291	0.18243	N	0.147199	T	0.06188	0.0160	L	0.34521	1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43376	-0.9395	10	0.13108	T	0.6	-5.3835	7.4564	0.27270	0.0:0.3603:0.218:0.4217	.	395;395	Q8WXE9;G3V2T7	STON2_HUMAN;.	R	395;407;395	ENSP00000450857:H395R;ENSP00000267540:H395R	ENSP00000267540:H395R	H	-	2	0	STON2	80814224	0.000000	0.05858	0.157000	0.22605	0.869000	0.49853	-0.505000	0.06367	-0.266000	0.09339	-0.250000	0.11733	CAC		0.493	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		C	81744471	T	C	81744471	3	2	571	1	0	0	0	0	1	0	0	0	15323	1696	59	3	1539	3	STON2	14	81744471	Missense_Mutation	SNP	T	TCGA-CZ-4854-01A-01D-1373-10		81744471	25605069	55	31090											
CHGA	1113	hgsc.bcm.edu	37	14	93397681	93397681	+	Missense_Mutation	SNP	G	G	A	rs150244309		TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr14:93397681G>A	ENST00000216492.5	+	6	722	c.442G>A	c.(442-444)Gga>Aga	p.G148R	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	148					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)		p.G148R(1)		cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGCCACAGACGGAGCCAGGCC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17625	0.001		0.0	False		,,,				2504	0.0				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)											1	Substitution - Missense(1)	skin(1)											31	37	35					14																	93397681		2203	4300	6503	SO:0001583	missense	1113				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.442G>A	14.37:g.93397681G>A	ENSP00000216492:p.Gly148Arg		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	CCDS9906.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.99	1.804959	0.31961	.	.	ENSG00000100604	ENST00000216492	T	0.01725	4.67	4.52	1.44	0.22558	.	0.529179	0.20896	N	0.083721	T	0.01870	0.0059	L	0.54323	1.7	0.09310	N	1	B	0.32396	0.369	B	0.27500	0.08	T	0.44019	-0.9355	10	0.56958	D	0.05	-0.7663	4.252	0.10700	0.2144:0.1909:0.5947:0.0	.	148	P10645	CMGA_HUMAN	R	148	ENSP00000216492:G148R	ENSP00000216492:G148R	G	+	1	0	CHGA	92467434	0.001000	0.12720	0.001000	0.08648	0.224000	0.24922	0.963000	0.29293	0.467000	0.27218	0.561000	0.74099	GGA		0.602	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		A	93397681	G	A	93397681	3	1	571	1	0	0	0	0	1	0	0	0	3340	1117	39	1	464	1	CHGA	14	93397681	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	11653210	93397681	13951859	56	31091											
CYFIP1	23191	hgsc.bcm.edu	37	15	22926030	22926030	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr15:22926030A>G	ENST00000313077.7	+	3	297	c.172A>G	c.(172-174)Aga>Gga	p.R58G	CYFIP1_ENST00000560848.1_Missense_Mutation_p.R58G	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGCATCGCAAGATACATTGA	0.443																																																0													145	128	134					15																	22926030		2203	4300	6503	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.172A>G	15.37:g.22926030A>G	ENSP00000324549:p.Arg58Gly			Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.322895	0.41096	.	.	ENSG00000068793	ENST00000313077	T	0.46451	0.87	5.29	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	L	0.46157	1.445	0.80722	D	1	B	0.19200	0.034	B	0.19946	0.027	T	0.23154	-1.0196	10	0.72032	D	0.01	.	12.4125	0.55476	0.8593:0.1407:0.0:0.0	.	58	Q7L576	CYFP1_HUMAN	G	58	ENSP00000324549:R58G	ENSP00000324549:R58G	R	+	1	2	CYFIP1	20477471	0.975000	0.34042	0.963000	0.40424	0.700000	0.40528	2.517000	0.45529	0.921000	0.36994	0.459000	0.35465	AGA		0.443	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		G	22926030	A	G	22926030	3	3	571	1	0	0	0	0	1	0	0	0	4139	64	3	3	178	3	CYFIP1	15	22926030	Missense_Mutation	SNP	A	TCGA-CZ-4854-01A-01D-1373-10		22926030	79605362	57	31092											
ISLR	3671	hgsc.bcm.edu	37	15	74467763	74467763	+	Missense_Mutation	SNP	C	C	G	rs138253214		TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr15:74467763C>G	ENST00000249842.3	+	2	921	c.564C>G	c.(562-564)atC>atG	p.I188M	ISLR_ENST00000395118.1_Missense_Mutation_p.I188M|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	188	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)		p.I188I(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CCTGCGGCATCGTGTGGCTCA	0.637																																																1	Substitution - coding silent(1)	skin(1)											55	46	49					15																	74467763		2198	4297	6495	SO:0001583	missense	3671			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.564C>G	15.37:g.74467763C>G	ENSP00000249842:p.Ile188Met			Missense_Mutation	SNP	ENST00000249842.3	37	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	6.806	0.517825	0.13005	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.54866	0.55;0.55	4.05	0.579	0.17397	Cysteine-rich flanking region, C-terminal (1);	0.141749	0.27168	U	0.020614	T	0.32133	0.0819	L	0.28115	0.83	0.22081	N	0.999378	P	0.43094	0.799	B	0.35727	0.209	T	0.20940	-1.0260	10	0.56958	D	0.05	.	8.3986	0.32572	0.0:0.6915:0.14:0.1685	.	188	O14498	ISLR_HUMAN	M	188	ENSP00000249842:I188M;ENSP00000378550:I188M	ENSP00000249842:I188M	I	+	3	3	ISLR	72254816	0.000000	0.05858	0.997000	0.53966	0.564000	0.35744	-0.718000	0.04980	0.209000	0.20645	0.313000	0.20887	ATC		0.637	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		G	74467763	C	G	74467763	3	3	571	1	0	0	0	0	1	0	0	0	7860	874	31	4	566	4	ISLR	15	74467763	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	51541733	74467763	28063629	58	31093											
ACAN	176	hgsc.bcm.edu	37	15	89398733	89398733	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr15:89398733C>A	ENST00000561243.1	+	11	2917	c.2917C>A	c.(2917-2919)Ctc>Atc	p.L973I	ACAN_ENST00000352105.7_Missense_Mutation_p.L973I|ACAN_ENST00000559004.1_Missense_Mutation_p.L973I|ACAN_ENST00000439576.2_Missense_Mutation_p.L973I			P16112	PGCA_HUMAN	aggrecan	972	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTAGGAGACCTCAGTGGGCT	0.557																																																0													142	146	145					15																	89398733		1842	4088	5930	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2917C>A	15.37:g.89398733C>A	ENSP00000453342:p.Leu973Ile		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.635073	0.00806	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95788	-3.81;-3.81	4.48	-1.44	0.08856	.	1.458670	0.05162	N	0.497976	D	0.89118	0.6624	N	0.17674	0.51	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.32393	0.109;0.145	T	0.79680	-0.1702	10	0.08599	T	0.76	-2.7456	4.1285	0.10138	0.543:0.2503:0.1224:0.0842	.	973;973	E7ENV9;E7EX88	.;.	I	973	ENSP00000387356:L973I;ENSP00000341615:L973I	ENSP00000268134:L973I	L	+	1	0	ACAN	87199737	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-1.178000	0.03093	-0.158000	0.11040	-0.311000	0.09066	CTC		0.557	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		A	89398733	C	A	89398733	3	1	571	1	0	0	0	0	1	0	0	0	117	681	24	4	2959	4	ACAN	15	89398733	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	14930970	89398733	13132659	59	31094											
C16orf78	123970	hgsc.bcm.edu	37	16	49412406	49412406	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr16:49412406A>G	ENST00000299191.3	+	3	413	c.296A>G	c.(295-297)gAc>gGc	p.D99G		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	99						nucleus (GO:0005634)		p.D99G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TTCAGGAAGGACGCCGCCTCC	0.572																																																1	Substitution - Missense(1)	central_nervous_system(1)											42	37	39					16																	49412406		2199	4300	6499	SO:0001583	missense	123970			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.296A>G	16.37:g.49412406A>G	ENSP00000299191:p.Asp99Gly			Missense_Mutation	SNP	ENST00000299191.3	37	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	A	7.255	0.604063	0.14002	.	.	ENSG00000166152	ENST00000299191	T	0.47528	0.84	3.04	0.627	0.17675	.	1.930630	0.02833	N	0.127039	T	0.33673	0.0871	L	0.27053	0.805	0.09310	N	1	B	0.33807	0.426	B	0.29077	0.098	T	0.18241	-1.0343	9	.	.	.	-5.9787	7.3006	0.26418	0.5015:0.4985:0.0:0.0	.	99	Q8WTQ4	CP078_HUMAN	G	99	ENSP00000299191:D99G	.	D	+	2	0	C16orf78	47969907	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.321000	0.08018	0.092000	0.17331	0.379000	0.24179	GAC		0.572	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		G	49412406	A	G	49412406	3	3	571	1	0	0	0	0	1	0	0	0	1837	275	10	3	306	3	C16orf78	16	49412406	Missense_Mutation	SNP	A	TCGA-CZ-4854-01A-01D-1373-10		49412406	40942347	60	31095											
CDH11	1009	hgsc.bcm.edu;ucsc.edu	37	16	65022084	65022084	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr16:65022084C>A	ENST00000268603.4	-	7	1590	c.975G>T	c.(973-975)caG>caT	p.Q325H	CDH11_ENST00000394156.3_Missense_Mutation_p.Q325H|CDH11_ENST00000566827.1_Missense_Mutation_p.Q199H	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	325	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCACCCCCTCCTGTGTTTCAT	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													365	305	326					16																	65022084		2203	4300	6503	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.975G>T	16.37:g.65022084C>A	ENSP00000268603:p.Gln325His		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107447	0.77096	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01767	4.65;4.65	5.65	4.69	0.59074	Cadherin (5);Cadherin-like (1);	0.105172	0.64402	D	0.000003	T	0.09512	0.0234	M	0.74258	2.255	0.58432	D	0.999996	D;D	0.69078	0.997;0.997	P;D	0.70935	0.833;0.971	T	0.00822	-1.1552	10	0.87932	D	0	.	13.971	0.64240	0.0:0.9262:0.0:0.0738	.	325;325	P55287-2;P55287	.;CAD11_HUMAN	H	325;325;308	ENSP00000268603:Q325H;ENSP00000377711:Q325H	ENSP00000268603:Q325H	Q	-	3	2	CDH11	63579585	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.100000	0.41777	1.366000	0.46076	0.650000	0.86243	CAG		0.443	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		A	65022084	C	A	65022084	3	1	571	1	0	0	0	0	1	0	0	0	3099	680	24	4	1443	4	CDH11	16	65022084	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	15609678	65022084	25332669	61	31096											
TMCO7	79613	hgsc.bcm.edu	37	16	68877598	68877598	+	Silent	SNP	G	G	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr16:68877598G>T	ENST00000261778.1	+	1	90	c.78G>T	c.(76-78)ctG>ctT	p.L26L		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	26						integral component of membrane (GO:0016021)											CATTGAAGCTGCTGCTGAGCC	0.692																																																0													65	77	73					16																	68877598		1956	4148	6104	SO:0001819	synonymous_variant	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.78G>T	16.37:g.68877598G>T			Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	CCDS45516.1																																																																																				0.692	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		T	68877598	G	T	68877598	2	4	571	1	0	0	0	0	0	0	0	1	16006	1306	46	4		4	TMCO7	16	68877598	Silent	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	3855514	68877598	21477155	62	31097											
KIAA1609	57707	hgsc.bcm.edu	37	16	84529460	84529460	+	Silent	SNP	C	C	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr16:84529460C>A	ENST00000343629.6	-	3	395	c.213G>T	c.(211-213)cgG>cgT	p.R71R	TLDC1_ENST00000561807.1_5'UTR|RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000535580.1_Silent_p.R44R	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	71						lysosomal membrane (GO:0005765)											GGTCGACCCTCCGCATGCCAT	0.567																																																0													151	117	129					16																	84529460		2200	4300	6500	SO:0001819	synonymous_variant	57707			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.213G>T	16.37:g.84529460C>A			Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	CCDS32498.1																																																																																				0.567	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		A	84529460	C	A	84529460	2	1	571	1	0	0	0	0	0	0	0	1	8249	842	30	4		4	KIAA1609	16	84529460	Silent	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	15651862	84529460	5825293	63	31098											
ANKFY1	51479	hgsc.bcm.edu	37	17	4083152	4083152	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr17:4083152G>T	ENST00000341657.4	-	17	2296	c.2261C>A	c.(2260-2262)cCc>cAc	p.P754H	ANKFY1_ENST00000574367.1_Missense_Mutation_p.P755H|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.P796H	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	754	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGGTTGTCTGGGACTGTTCAC	0.522																																																0													177	181	180					17																	4083152		1941	4147	6088	SO:0001583	missense	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2261C>A	17.37:g.4083152G>T	ENSP00000343362:p.Pro754His		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37		.	.	.	.	.	.	.	.	.	.	G	19.24	3.788956	0.70337	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.230663	0.46145	D	0.000320	T	0.65281	0.2676	L	0.58302	1.8	0.80722	D	1	D;P;P;P	0.53885	0.963;0.794;0.755;0.904	P;P;B;P	0.53593	0.73;0.478;0.346;0.465	T	0.58092	-0.7697	9	0.16896	T	0.51	-21.8447	18.2323	0.89937	0.0:0.0:1.0:0.0	.	696;754;755;796	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	H	755;696	.	ENSP00000343362:P755H	P	-	2	0	ANKFY1	4029901	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.384000	0.79751	2.790000	0.95986	0.591000	0.81541	CCC		0.522	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		T	4083152	G	T	4083152	3	4	571	1	0	0	0	0	1	0	0	0	626	1232	43	4	1284	4	ANKFY1	17	4083152	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10		4083152	77112058	64	31099											
ADORA2B	136	hgsc.bcm.edu	37	17	15878585	15878585	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr17:15878585C>A	ENST00000304222.2	+	2	1260	c.928C>A	c.(928-930)Ctc>Atc	p.L310I	ZSWIM7_ENST00000399280.2_5'Flank	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	310					activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.L310F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	CAGGTATCTTCTCTGCCAAGC	0.498																																																1	Substitution - Missense(1)	ovary(1)											103	109	107					17																	15878585		2203	4300	6503	SO:0001583	missense	136			M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"GPCR / Class A : Adenosine receptors"	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.928C>A	17.37:g.15878585C>A	ENSP00000304501:p.Leu310Ile			Missense_Mutation	SNP	ENST00000304222.2	37	CCDS11173.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986112	0.35036	.	.	ENSG00000170425	ENST00000304222	T	0.37411	1.2	5.79	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.27063	0.0663	L	0.27053	0.805	0.42896	D	0.994211	B	0.22346	0.068	B	0.29440	0.102	T	0.08249	-1.0731	10	0.40728	T	0.16	-13.9349	9.6001	0.39598	0.0:0.7842:0.1416:0.0742	.	310	P29275	AA2BR_HUMAN	I	310	ENSP00000304501:L310I	ENSP00000304501:L310I	L	+	1	0	ADORA2B	15819310	1.000000	0.71417	0.920000	0.36463	0.512000	0.34134	4.280000	0.58959	1.464000	0.47987	-0.253000	0.11424	CTC		0.498	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131032.1			A	15878585	C	A	15878585	3	1	571	1	0	0	0	0	1	0	0	0	328	913	32	4	934	4	ADORA2B	17	15878585	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	11795433	15878585	65316625	65	31100											
TNFAIP1	7126	hgsc.bcm.edu;ucsc.edu	37	17	26669383	26669383	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr17:26669383G>A	ENST00000226225.2	+	6	896	c.629G>A	c.(628-630)tGc>tAc	p.C210Y	TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Missense_Mutation_p.C106Y	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	210					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAGATCTGCTGCTGGTCCTTT	0.557																																																0													139	107	118					17																	26669383		2203	4300	6503	SO:0001583	missense	7126				CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"BTB/POZ domain containing"	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.629G>A	17.37:g.26669383G>A	ENSP00000226225:p.Cys210Tyr		B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836014	0.91117	.	.	ENSG00000109079	ENST00000226225;ENST00000544907	T	0.53640	0.61	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	M	0.82056	2.57	0.80722	D	1	D	0.54772	0.968	P	0.55303	0.773	T	0.67624	-0.5623	10	0.49607	T	0.09	-30.3684	19.3095	0.94179	0.0:0.0:1.0:0.0	.	210	Q13829	BACD2_HUMAN	Y	210;106	ENSP00000226225:C210Y	ENSP00000226225:C210Y	C	+	2	0	TNFAIP1	23693510	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.869000	0.99810	2.804000	0.96469	0.655000	0.94253	TGC		0.557	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		A	26669383	G	A	26669383	3	1	571	1	0	0	0	0	1	0	0	0	16277	1319	46	2	647	2	TNFAIP1	17	26669383	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	10790798	26669383	54525827	66	31101											
SUPT6H	6830	hgsc.bcm.edu;ucsc.edu	37	17	27011637	27011637	+	Missense_Mutation	SNP	G	G	A	rs377756550		TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr17:27011637G>A	ENST00000314616.6	+	18	2546	c.2263G>A	c.(2263-2265)Gtg>Atg	p.V755M	SUPT6H_ENST00000347486.4_Missense_Mutation_p.V755M	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	755	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTGGTTGAGAGTGGCACCCTA	0.493																																																0								G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	176	148	157		2263	5.8	1	17		157	0,8600		0,0,4300	no	missense	SUPT6H	NM_003170.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	755/1727	27011637	1,13005	2203	4300	6503	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2263G>A	17.37:g.27011637G>A	ENSP00000319104:p.Val755Met		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865565	0.91511	2.27E-4	0.0	ENSG00000109111	ENST00000314616	T	0.44881	0.91	5.8	5.8	0.92144	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	M	0.71036	2.16	0.80722	D	1	D	0.56968	0.978	P	0.58391	0.838	T	0.61441	-0.7062	10	0.54805	T	0.06	-17.5945	18.2272	0.89921	0.0:0.0:1.0:0.0	.	755	Q7KZ85	SPT6H_HUMAN	M	755	ENSP00000319104:V755M	ENSP00000319104:V755M	V	+	1	0	SUPT6H	24035764	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.545000	0.82128	2.749000	0.94314	0.655000	0.94253	GTG		0.493	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		A	27011637	G	A	27011637	3	1	571	1	0	0	0	0	1	0	0	0	15405	1029	36	2	2329	2	SUPT6H	17	27011637	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	342254	27011637	54183573	67	31102											
CDH19	28513	hgsc.bcm.edu;ucsc.edu	37	18	64172144	64172144	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr18:64172144C>G	ENST00000262150.2	-	12	2516	c.2224G>C	c.(2224-2226)Gat>Cat	p.D742H		NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	3156	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCATCCTGATCAGAGACTGCT	0.458																																																0													88	80	83					18																	64172144		2203	4300	6503	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2224G>C	18.37:g.64172144C>G	ENSP00000262150:p.Asp742His		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851937	0.71719	.	.	ENSG00000071991	ENST00000262150	T	0.79033	-1.23	5.1	5.1	0.69264	Cadherin, cytoplasmic domain (1);	0.306175	0.34223	N	0.004143	D	0.89839	0.6831	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.91481	0.5204	10	0.66056	D	0.02	.	18.8816	0.92357	0.0:1.0:0.0:0.0	.	742	Q9H159	CAD19_HUMAN	H	742	ENSP00000262150:D742H	ENSP00000262150:D742H	D	-	1	0	CDH19	62323124	0.998000	0.40836	0.262000	0.24481	0.518000	0.34316	3.631000	0.54280	2.521000	0.84997	0.591000	0.81541	GAT		0.458	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		G	64172144	C	G	64172144	3	3	571	1	0	0	0	0	1	0	0	0	3106	826	29	4	98	4	CDH19	18	64172144	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10		64172144	13905104	68	31103											
CNN2	1265	hgsc.bcm.edu	37	19	1036169	1036169	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr19:1036169T>A	ENST00000263097.4	+	5	794	c.431T>A	c.(430-432)gTc>gAc	p.V144D	CNN2_ENST00000562958.2_Missense_Mutation_p.V165D|CNN2_ENST00000606983.1_Intron|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000565096.2_Missense_Mutation_p.V133D|CNN2_ENST00000348419.3_Intron	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	144					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATTGGCGTCAAGTACTCG	0.642																																																0													44	40	41					19																	1036169		2203	4300	6503	SO:0001583	missense	1265			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.431T>A	19.37:g.1036169T>A	ENSP00000263097:p.Val144Asp		A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	37	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.888189	0.52014	.	.	ENSG00000064666	ENST00000263097;ENST00000442531	T	0.64618	-0.11	4.67	4.67	0.58626	Calponin homology domain (2);	0.071555	0.56097	U	0.000039	T	0.63153	0.2487	M	0.80982	2.52	0.80722	D	1	B;B;B	0.19445	0.036;0.007;0.004	B;B;B	0.16289	0.01;0.015;0.003	T	0.63726	-0.6572	10	0.46703	T	0.11	.	12.018	0.53326	0.0:0.0:0.0:1.0	.	165;133;144	B4DUT8;B4DDF4;Q99439	.;.;CNN2_HUMAN	D	144;123	ENSP00000263097:V144D	ENSP00000263097:V144D	V	+	2	0	CNN2	987169	1.000000	0.71417	0.849000	0.33467	0.811000	0.45836	7.418000	0.80167	1.730000	0.51580	0.459000	0.35465	GTC		0.642	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		A	1036169	T	A	1036169	3	1	571	1	0	0	0	0	1	0	0	0	3612	1667	58	5	449	5	CNN2	19	1036169	Missense_Mutation	SNP	T	TCGA-CZ-4854-01A-01D-1373-10		1036169	58092814	69	31104											
BTBD2	55643	hgsc.bcm.edu	37	19	1986502	1986502	+	Silent	SNP	G	G	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr19:1986502G>A	ENST00000255608.4	-	9	1579	c.1563C>T	c.(1561-1563)gtC>gtT	p.V521V	AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	521						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTAGAAGATGACCTCGGGGA	0.667																																																0													159	108	125					19																	1986502		2203	4300	6503	SO:0001819	synonymous_variant	55643			AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1563C>T	19.37:g.1986502G>A			O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	37	CCDS12078.1																																																																																				0.667	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			A	1986502	G	A	1986502	2	1	571	1	0	0	0	0	0	0	0	1	1545	1277	45	2		2	BTBD2	19	1986502	Silent	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	950333	1986502	57142481	70	31105											
JUNB	3726	hgsc.bcm.edu	37	19	12903618	12903618	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr19:12903618C>G	ENST00000302754.4	+	1	1309	c.1033C>G	c.(1033-1035)Cac>Gac	p.H345D		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	345					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						GGTCAAGGGACACGCCTTCTG	0.672																																																0													38	35	36					19																	12903618		2203	4300	6503	SO:0001583	missense	3726			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.1033C>G	19.37:g.12903618C>G	ENSP00000303315:p.His345Asp		Q96GH3	Missense_Mutation	SNP	ENST00000302754.4	37	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.676748	0.29783	.	.	ENSG00000171223	ENST00000302754	T	0.29655	1.56	4.08	4.08	0.47627	.	0.206931	0.40728	U	0.001034	T	0.23094	0.0558	N	0.22421	0.69	0.39162	D	0.962424	B	0.22003	0.063	B	0.19666	0.026	T	0.10064	-1.0646	10	0.51188	T	0.08	-10.5405	15.0435	0.71811	0.0:1.0:0.0:0.0	.	345	P17275	JUNB_HUMAN	D	345	ENSP00000303315:H345D	ENSP00000303315:H345D	H	+	1	0	JUNB	12764618	0.994000	0.37717	1.000000	0.80357	0.833000	0.47200	3.294000	0.51787	1.834000	0.53371	0.448000	0.29417	CAC		0.672	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		G	12903618	C	G	12903618	3	3	571	1	0	0	0	0	1	0	0	0	7972	478	17	4	1035	4	JUNB	19	12903618	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	10917116	12903618	46225365	71	31106											
CCDC123	84902	hgsc.bcm.edu	37	19	33444682	33444682	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr19:33444682T>A	ENST00000305768.5	-	4	419	c.331A>T	c.(331-333)Aga>Tga	p.R111*	CEP89_ENST00000590597.2_Nonsense_Mutation_p.R111*	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	111					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GAAGATCTTCTTCCCATCTCA	0.408																																																0													143	112	122					19																	33444682		2203	4300	6503	SO:0001587	stop_gained	0			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.331A>T	19.37:g.33444682T>A	ENSP00000306105:p.Arg111*		B9EGA6|Q8N5J8	Nonsense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	T	36	5.676359	0.96764	.	.	ENSG00000121289	ENST00000305768	.	.	.	4.97	3.92	0.45320	.	0.482216	0.23793	N	0.044504	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7577	8.813	0.34978	0.0:0.0:0.1906:0.8094	.	.	.	.	X	111	.	ENSP00000306105:R111X	R	-	1	2	CEP89	38136522	0.001000	0.12720	0.001000	0.08648	0.497000	0.33675	0.648000	0.24828	0.799000	0.34018	0.477000	0.44152	AGA		0.408	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		A	33444682	T	A	33444682	4	1	571	1	0	0	0	0	0	1	0	0	2761	1617	56	5	2084	5	CCDC123	19	33444682	Nonsense_Mutation	SNP	T	TCGA-CZ-4854-01A-01D-1373-10	20541064	33444682	25684301	72	31107											
CHST8	64377	hgsc.bcm.edu	37	19	34180263	34180263	+	Silent	SNP	G	G	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr19:34180263G>A	ENST00000262622.4	+	2	854	c.96G>A	c.(94-96)caG>caA	p.Q32Q	CHST8_ENST00000434302.1_Silent_p.Q32Q|CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000438847.3_Silent_p.Q32Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	32					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TCAGCCTGCAGGACCCTACGG	0.637																																																0													92	92	92					19																	34180263		2203	4300	6503	SO:0001819	synonymous_variant	64377			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.96G>A	19.37:g.34180263G>A			Q9H3N2	Silent	SNP	ENST00000262622.4	37	CCDS12433.1																																																																																				0.637	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		A	34180263	G	A	34180263	2	1	571	1	0	0	0	0	0	0	0	1	3412	991	35	2		2	CHST8	19	34180263	Silent	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	735581	34180263	24948720	73	31108											
ZNF30	90075	hgsc.bcm.edu	37	19	35435241	35435241	+	Silent	SNP	G	G	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr19:35435241G>A	ENST00000601142.1	+	5	1608	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	ZNF30_ENST00000439785.1_Silent_p.E458E|ZNF30_ENST00000303586.7_Silent_p.E458E|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Silent_p.E376E			P17039	ZNF30_HUMAN	zinc finger protein 30	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AACCCTATGAGTGTAAGGAAT	0.438																																																0													63	64	64					19																	35435241		2203	4299	6502	SO:0001819	synonymous_variant	90075			X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1371G>A	19.37:g.35435241G>A			A5PLP1|A8K320|B4DIC0|Q6N068	Silent	SNP	ENST00000601142.1	37	CCDS46045.1																																																																																				0.438	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		A	35435241	G	A	35435241	2	1	571	1	0	0	0	0	0	0	0	1	17835	1020	36	2		2	ZNF30	19	35435241	Silent	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	1254978	35435241	23693742	74	31109											
CD177	57126	hgsc.bcm.edu	37	19	43860255	43860255	+	RNA	SNP	T	T	G	rs200662237	byFrequency	TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr19:43860255T>G	ENST00000607517.1	+	0	670				CD177_ENST00000378012.2_RNA|CD177_ENST00000378009.4_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				AACTGCGATATGAAAGGTGAG	0.582													t|||	4612	0.920927	0.8359	0.9697	5008	,	,		19389	0.9306		0.9523	False		,,,				2504	0.9591															0													4	3	3					19																	43860255		1158	2550	3708			57126			AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"CD molecules"	30072	protein-coding gene	gene with protein product	"polycythemia rubra vera 1"	162860	"CD177 antigen"			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43860255T>G			Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Missense_Mutation	SNP	ENST00000607517.1	37		.	.	.	.	.	.	.	.	.	.	N	2.601	-0.292906	0.05568	.	.	ENSG00000204936	ENST00000378009	T	0.68025	-0.3	3.07	-3.82	0.04281	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.23261	-1.0193	5	0.20046	T	0.44	.	0.1411	0.00083	0.3043:0.2207:0.1502:0.3248	.	.	.	.	R	205	ENSP00000367248:M205R	ENSP00000367248:M205R	M	+	2	0	CD177	48552095	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.471000	0.06631	-1.046000	0.03246	-1.273000	0.01405	ATG		0.582	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		G	43860255	T	G	43860255	1	3	571	0	1	0	0	0	0	0	0	0	2973	1464	51	5		5	CD177	19	43860255	RNA	SNP	T	TCGA-CZ-4854-01A-01D-1373-10	8425014	43860255	15268728	75	31110											
SIGLEC8	27181	hgsc.bcm.edu;ucsc.edu	37	19	51955677	51955677	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr19:51955677A>C	ENST00000321424.3	-	7	1522	c.1456T>G	c.(1456-1458)Tgt>Ggt	p.C486G	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.C393G|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.C377G	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	486					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCCTCAAACAGGCCTGAGTC	0.527																																																0													130	118	122					19																	51955677		2203	4300	6503	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1456T>G	19.37:g.51955677A>C	ENSP00000321077:p.Cys486Gly		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	9.440	1.087739	0.20390	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.62105	1.33;0.05;1.11	1.31	0.213	0.15244	.	.	.	.	.	T	0.35970	0.0950	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.08055	0.001;0.003;0.001	T	0.24333	-1.0163	9	0.87932	D	0	.	3.225	0.06729	0.7385:0.0:0.2615:0.0	.	377;393;486	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	G	377;486;393	ENSP00000389142:C377G;ENSP00000321077:C486G;ENSP00000339448:C393G	ENSP00000321077:C486G	C	-	1	0	SIGLEC8	56647489	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	1.295000	0.33377	0.009000	0.14813	0.411000	0.27672	TGT		0.527	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		C	51955677	A	C	51955677	3	2	571	1	0	0	0	0	1	0	0	0	14320	188	7	5	47	5	SIGLEC8	19	51955677	Missense_Mutation	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	8095422	51955677	7173306	76	31111											
ZNF83	55769	hgsc.bcm.edu	37	19	53117118	53117118	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr19:53117118C>T	ENST00000597597.1	-	2	2953	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	ZNF83_ENST00000545872.1_Missense_Mutation_p.E234K|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000541777.2_Missense_Mutation_p.E234K|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.E234K|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.E234K|ZNF83_ENST00000391789.4_Missense_Mutation_p.E234K|ZNF83_ENST00000301096.3_Missense_Mutation_p.E234K			P51522	ZNF83_HUMAN	zinc finger protein 83	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E234K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTGTTACATTCGTAAGGTTTT	0.388																																																1	Substitution - Missense(1)	large_intestine(1)											85	77	80					19																	53117118		2203	4300	6503	SO:0001583	missense	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.700G>A	19.37:g.53117118C>T	ENSP00000472619:p.Glu234Lys		A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.857421	0.00558	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;3.28	1.7	0.653	0.17828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	N	0.03224	-0.385	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.39231	-0.9624	9	0.02654	T	1	.	2.6726	0.05071	0.2252:0.1504:0.0:0.6244	.	234;234	P51522-2;P51522	.;ZNF83_HUMAN	K	234	ENSP00000445993:E234K;ENSP00000301096:E234K;ENSP00000445470:E234K;ENSP00000440713:E234K;ENSP00000439681:E234K;ENSP00000375666:E234K	ENSP00000301096:E234K	E	-	1	0	ZNF83	57808930	0.000000	0.05858	0.077000	0.20336	0.020000	0.10135	-1.889000	0.01614	0.111000	0.17947	-0.600000	0.04104	GAA		0.388	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		T	53117118	C	T	53117118	3	4	571	1	0	0	0	0	1	0	0	0	18188	893	31	1	854	1	ZNF83	19	53117118	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	1161441	53117118	6011865	77	31112											
PABPC1L	80336	hgsc.bcm.edu;ucsc.edu	37	20	43559156	43559156	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr20:43559156C>G	ENST00000217073.2	+	8	1028	c.1028C>G	c.(1027-1029)cCa>cGa	p.P343R	PABPC1L_ENST00000372824.1_5'Flank|PABPC1L_ENST00000255136.3_Missense_Mutation_p.P343R|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000217074.4_Intron|PABPC1L_ENST00000537323.1_Intron|PABPC1L_ENST00000217075.2_5'Flank			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	343	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TTTTCCTCCCCAGAAGAGGCG	0.587																																																0													217	202	207					20																	43559156		1568	3582	5150	SO:0001583	missense	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1028C>G	20.37:g.43559156C>G	ENSP00000217073:p.Pro343Arg		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985572	0.93044	.	.	ENSG00000101104	ENST00000255136;ENST00000217073	T;T	0.15952	2.38;2.38	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	L	0.27975	0.815	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04140	-1.0974	10	0.66056	D	0.02	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	343	Q4VXU2	PAP1L_HUMAN	R	343	ENSP00000255136:P343R;ENSP00000217073:P343R	ENSP00000217073:P343R	P	+	2	0	PABPC1L	42992570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.784000	0.85713	2.746000	0.94184	0.655000	0.94253	CCA		0.587	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			G	43559156	C	G	43559156	3	3	571	1	0	0	0	0	1	0	0	0	11366	594	21	4	1058	4	PABPC1L	20	43559156	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10		43559156	19466364	78	31113											
ZBP1	81030	hgsc.bcm.edu	37	20	56195329	56195329	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chr20:56195329G>T	ENST00000371173.3	-	1	200	c.23C>A	c.(22-24)cCg>cAg	p.P8Q	ZBP1_ENST00000541799.1_Missense_Mutation_p.P8Q|ZBP1_ENST00000395822.3_Missense_Mutation_p.P8Q|ZBP1_ENST00000343535.4_Missense_Mutation_p.P8Q|ZBP1_ENST00000340462.4_Missense_Mutation_p.P8Q|ZBP1_ENST00000538947.1_5'UTR	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	8					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TTCTCTGCCCGGGTCAGCAGG	0.587																																																0													35	31	32					20																	56195329		2200	4298	6498	SO:0001583	missense	81030			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.23C>A	20.37:g.56195329G>T	ENSP00000360215:p.Pro8Gln		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777050	0.31411	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T;T	0.17528	3.04;2.27;3.05;3.0;2.69	3.23	-2.64	0.06114	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.393840	0.04956	N	0.461273	T	0.25644	0.0624	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.76494	0.999;0.979;0.993;0.979	D;P;P;P	0.66351	0.943;0.599;0.737;0.599	T	0.36261	-0.9755	10	0.54805	T	0.06	-0.6611	8.1512	0.31141	0.7008:0.0:0.2992:0.0	.	8;8;8;8	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	Q	8	ENSP00000360215:P8Q;ENSP00000379167:P8Q;ENSP00000344954:P8Q;ENSP00000340584:P8Q;ENSP00000440552:P8Q	ENSP00000344954:P8Q	P	-	2	0	ZBP1	55628735	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.330000	0.07925	-0.567000	0.06046	-1.141000	0.01876	CCG		0.587	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		T	56195329	G	T	56195329	3	4	571	1	0	0	0	0	1	0	0	0	17526	1116	39	4	1375	4	ZBP1	20	56195329	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	12636173	56195329	6830191	79	31114											
KIF4A	24137	hgsc.bcm.edu	37	X	69561758	69561758	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chrX:69561758C>A	ENST00000374403.3	+	11	1325	c.1243C>A	c.(1243-1245)Cag>Aag	p.Q415K	KIF4A_ENST00000374388.3_Missense_Mutation_p.Q415K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	415					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.Q415*(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCAGACAGCCCAGATGTTGGA	0.418																																																1	Substitution - Nonsense(1)	lung(1)											102	101	101					X																	69561758		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1243C>A	X.37:g.69561758C>A	ENSP00000363524:p.Gln415Lys		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613671	0.46631	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.52295	0.67;0.67	4.77	3.88	0.44766	.	0.248403	0.28510	N	0.015090	T	0.43765	0.1262	L	0.57536	1.79	0.34560	D	0.71232	P;B	0.50617	0.937;0.13	P;B	0.46110	0.504;0.064	T	0.52823	-0.8524	10	0.06891	T	0.86	.	12.0176	0.53324	0.1741:0.8259:0.0:0.0	.	415;415	O95239;O95239-2	KIF4A_HUMAN;.	K	415	ENSP00000363509:Q415K;ENSP00000363524:Q415K	ENSP00000363509:Q415K	Q	+	1	0	KIF4A	69478483	0.995000	0.38212	0.998000	0.56505	0.941000	0.58515	2.289000	0.43523	0.964000	0.38108	0.422000	0.28245	CAG		0.418	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		A	69561758	C	A	69561758	3	1	571	1	0	0	0	0	1	0	0	0	8305	595	21	4	1281	4	KIF4A	23	69561758	Missense_Mutation	SNP	C	TCGA-CZ-4854-01A-01D-1373-10		69561758	85708802	80	31115											
TMEM31	203562	hgsc.bcm.edu	37	X	102968789	102968789	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chrX:102968789A>T	ENST00000319560.6	+	3	561	c.370A>T	c.(370-372)Ata>Tta	p.I124L	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	124						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						ACTGCCCATCATACTCCACCT	0.408																																																0													174	125	142					X																	102968789		2203	4300	6503	SO:0001583	missense	203562			BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.370A>T	X.37:g.102968789A>T	ENSP00000316940:p.Ile124Leu		Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	A	2.325	-0.354660	0.05138	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.04	0.199	0.15175	.	1.699660	0.04162	N	0.323227	T	0.18299	0.0439	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.26292	-1.0107	9	0.87932	D	0	.	0.5156	0.00603	0.4459:0.1925:0.1255:0.2361	.	124	Q5JXX7	TMM31_HUMAN	L	124	.	ENSP00000316940:I124L	I	+	1	0	TMEM31	102855445	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.122000	0.15687	-0.066000	0.12998	-0.386000	0.06593	ATA		0.408	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		T	102968789	A	T	102968789	3	4	571	1	0	0	0	0	1	0	0	0	16160	217	8	5	376	5	TMEM31	23	102968789	Missense_Mutation	SNP	A	TCGA-CZ-4854-01A-01D-1373-10	33407031	102968789	52301771	81	31116											
SLC25A5	292	hgsc.bcm.edu	37	X	118603864	118603864	+	Missense_Mutation	SNP	G	G	A	rs199707714		TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chrX:118603864G>A	ENST00000317881.8	+	2	468	c.352G>A	c.(352-354)Gca>Aca	p.A118T	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	118					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	AGGGAATCTGGCATCGGGTGG	0.522																																																0																																										SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.352G>A	X.37:g.118603864G>A	ENSP00000360671:p.Ala118Thr		B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507272	0.64410	.	.	ENSG00000005022	ENST00000317881	T	0.79033	-1.23	4.35	4.35	0.52113	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.83852	2.665	0.80722	D	1	P	0.34997	0.479	B	0.33568	0.166	D	0.83564	0.0108	10	0.87932	D	0	.	15.2759	0.73742	0.0:0.0:1.0:0.0	.	118	P05141	ADT2_HUMAN	T	118	ENSP00000360671:A118T	ENSP00000360671:A118T	A	+	1	0	SLC25A5	118487892	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.356000	0.97091	2.100000	0.63781	0.529000	0.55759	GCA		0.522	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		A	118603864	G	A	118603864	3	1	571	1	0	0	0	0	1	0	0	0	14518	1203	42	2	358	2	SLC25A5	23	118603864	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	15635075	118603864	36666696	82	31117											
SLC25A5	292	hgsc.bcm.edu	37	X	118604409	118604409	+	Silent	SNP	C	C	T	rs201855156		TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chrX:118604409C>T	ENST00000317881.8	+	3	788	c.672C>T	c.(670-672)gcC>gcT	p.A224A	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	224					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CTGCTGTTGCCGGGTTGACTT	0.488																																																0													84	71	75					X																	118604409		2203	4300	6503	SO:0001819	synonymous_variant	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.672C>T	X.37:g.118604409C>T			B2RCV1|O43350	Silent	SNP	ENST00000317881.8	37	CCDS14578.1																																																																																				0.488	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		T	118604409	C	T	118604409	2	4	571	1	0	0	0	0	0	0	0	1	14518	639	23	1		1	SLC25A5	23	118604409	Silent	SNP	C	TCGA-CZ-4854-01A-01D-1373-10	545	118604409	36666151	83	31118											
CT47B1	643311	hgsc.bcm.edu	37	X	120008791	120008791	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chrX:120008791G>T	ENST00000371311.3	-	1	988	c.734C>A	c.(733-735)gCc>gAc	p.A245D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	245										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TTCCTCTGCGGCCGGTtcctc	0.692																																																0													48	43	45					X																	120008791		692	1589	2281	SO:0001583	missense	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.734C>A	X.37:g.120008791G>T	ENSP00000360360:p.Ala245Asp		A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	G	2.066	-0.414207	0.04766	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.59	-3.17	0.05202	.	.	.	.	.	T	0.23289	0.0563	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.15809	-1.0424	8	0.39692	T	0.17	.	1.9656	0.03395	0.3048:0.0:0.3337:0.3615	.	245	P0C2W7	CT47B_HUMAN	D	245	.	ENSP00000360360:A245D	A	-	2	0	CT47B1	119892819	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.562000	0.05950	-1.075000	0.03129	0.171000	0.16805	GCC		0.692	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		T	120008791	G	T	120008791	3	4	571	1	0	0	0	0	1	0	0	0	3991	1203	42	4	173	4	CT47B1	23	120008791	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	1404382	120008791	35261769	84	31119											
CT47B1	643311	hgsc.bcm.edu;ucsc.edu	37	X	120009118	120009118	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chrX:120009118T>G	ENST00000371311.3	-	1	661	c.407A>C	c.(406-408)tAt>tCt	p.Y136S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	136										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GTCGTTGTGATAGAGGCGGCG	0.657																																																0													125	117	119					X																	120009118		692	1590	2282	SO:0001583	missense	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.407A>C	X.37:g.120009118T>G	ENSP00000360360:p.Tyr136Ser		A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	T	7.946	0.743746	0.15642	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.01	-4.03	0.04021	.	.	.	.	.	T	0.16981	0.0408	N	0.20986	0.625	0.09310	N	1	B	0.17038	0.02	B	0.18871	0.023	T	0.21621	-1.0240	8	0.25106	T	0.35	.	0.9819	0.01438	0.1991:0.1642:0.398:0.2387	.	136	P0C2W7	CT47B_HUMAN	S	136	.	ENSP00000360360:Y136S	Y	-	2	0	CT47B1	119893146	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.030000	0.12308	-1.523000	0.01767	0.143000	0.16000	TAT		0.657	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		G	120009118	T	G	120009118	3	3	571	1	0	0	0	0	1	0	0	0	3991	1406	49	5	500	5	CT47B1	23	120009118	Missense_Mutation	SNP	T	TCGA-CZ-4854-01A-01D-1373-10	327	120009118	35261442	85	31120											
PLXNA3	55558	hgsc.bcm.edu	37	X	153692792	153692792	+	Missense_Mutation	SNP	G	G	A	rs375186286		TCGA-CZ-4854-01A-01D-1373-10	TCGA-CZ-4854-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	7016e136-5c55-4ac9-b262-51529391aa79	09f66e4a-abaf-4331-ad1e-ed63263bb35e	g.chrX:153692792G>A	ENST00000369682.3	+	9	2051	c.1876G>A	c.(1876-1878)Gtg>Atg	p.V626M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	626					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.V626L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGACAGGCGTGAGGTTTGC	0.652																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)							MET/VAL	0,3835		0,0,1632,571	103	82	89		1876	2.5	0	X		89	1,6727		0,1,2427,1872	no	missense	PLXNA3	NM_017514.3	21	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	626/1872	153692792	1,10562	2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1876G>A	X.37:g.153692792G>A	ENSP00000358696:p.Val626Met		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	8.520	0.868600	0.17322	0.0	1.49E-4	ENSG00000130827	ENST00000369682	T	0.01113	5.32	5.51	2.5	0.30297	.	0.353013	0.28871	N	0.013869	T	0.00754	0.0025	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.49051	-0.8979	10	0.42905	T	0.14	.	2.6552	0.05010	0.1845:0.1328:0.5275:0.1553	.	626	P51805	PLXA3_HUMAN	M	626	ENSP00000358696:V626M	ENSP00000358696:V626M	V	+	1	0	PLXNA3	153345986	0.000000	0.05858	0.040000	0.18447	0.591000	0.36615	0.057000	0.14279	1.083000	0.41159	0.597000	0.82753	GTG		0.652	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		A	153692792	G	A	153692792	3	1	571	1	0	0	0	0	1	0	0	0	12123	1145	40	1	1906	1	PLXNA3	23	153692792	Missense_Mutation	SNP	G	TCGA-CZ-4854-01A-01D-1373-10	33683674	153692792	1577768	86	31121											
KLHL17	339451	hgsc.bcm.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	897301	897302	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr1:897301_897302GG>TT	ENST00000338591.3	+	4	692_693	c.585_586GG>TT	c.(583-588)ctGGgt>ctTTgt	p.G196C	NOC2L_ENST00000487214.1_5'Flank|NOC2L_ENST00000327044.6_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	196	BACK.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)	p.G196C(2)		central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCAACTGCCTGGGTATCCGGGG	0.629																																																2	Substitution - Missense(2)	lung(1)|kidney(1)																																								SO:0001583	missense	339451			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	Exception_encountered	1.37:g.897301_897302delinsTT	ENSP00000343930:p.Gly196Cys		Q5SV94	Silent|Missense_Mutation	SNP	ENST00000338591.3	37	CCDS30550.1																																																																																				0.629	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		TT	897302	GG	TT	897301	3	4	572	1	0	0	0	0	1	0	0	0	8374	1335	47	4	599	4	KLHL17	1	897301	Missense_Mutation	DNP	GG	TCGA-CZ-4856-01A-02D-1429-08		897301	248353320	1	31122											
CSMD2	114784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	34033301	34033301	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr1:34033301G>A	ENST00000373381.4	-	53	8448	c.8272C>T	c.(8272-8274)Cgg>Tgg	p.R2758W		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2735	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2735W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACACTGCCCCGGTAGCTGTAG	0.562																																																1	Substitution - Missense(1)	kidney(1)											119	96	104					1																	34033301		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8272C>T	1.37:g.34033301G>A	ENSP00000362479:p.Arg2758Trp		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	17.37	3.372953	0.61624	.	.	ENSG00000121904	ENST00000373381	T	0.66099	-0.19	5.31	3.36	0.38483	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.77916	0.4202	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.78856	-0.2039	10	0.62326	D	0.03	.	11.6293	0.51164	0.0:0.1344:0.7259:0.1397	.	2735;2758	Q7Z408;E7EUA6	CSMD2_HUMAN;.	W	2758	ENSP00000362479:R2758W	ENSP00000241312:R2735W	R	-	1	2	CSMD2	33805888	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.875000	0.56108	0.680000	0.31366	0.655000	0.94253	CGG		0.562	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		A	34033301	G	A	34033301	3	1	572	1	0	0	0	0	1	0	0	0	3947	1115	39	1	2324	1	CSMD2	1	34033301	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	33136000	34033301	215217320	2	31123											
ZMYM4	9202	broad.mit.edu;hgsc.bcm.edu	37	1	35870746	35870746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr1:35870746G>A	ENST00000314607.6	+	24	3731	c.3651G>A	c.(3649-3651)tgG>tgA	p.W1217*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.W1128*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1217					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.W1217*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAAGAACTGGGTTCAGTGGA	0.458																																																1	Substitution - Nonsense(1)	kidney(1)											99	103	102					1																	35870746		2203	4300	6503	SO:0001587	stop_gained	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3651G>A	1.37:g.35870746G>A	ENSP00000322915:p.Trp1217*		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.328621|8.328621	0.98762|0.98762	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47469|.	0.1447|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34104|.	-0.9842|.	3|.	.|0.02654	.|T	.|1	-6.4036|-6.4036	19.4279|19.4279	0.94751|0.94751	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	876|1217;1128	.|.	.|ENSP00000322915:W1217X	G|W	+|+	1|3	0|0	ZMYM4|ZMYM4	35643333|35643333	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.236000|8.236000	0.89805|0.89805	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.458	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		A	35870746	G	A	35870746	4	1	572	1	0	0	0	0	0	1	0	0	17707	1241	43	2	3745	2	ZMYM4	1	35870746	Nonsense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	1837445	35870746	213379875	3	31124											
EIF2C3	192669	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36509078	36509078	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr1:36509078A>G	ENST00000373191.4	+	17	2552	c.2203A>G	c.(2203-2205)Aca>Gca	p.T735A	AGO3_ENST00000246314.6_Missense_Mutation_p.T501A|AGO3_ENST00000471099.1_3'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	735	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.T735A(1)									CCCAGCTGGAACAACAGTTGA	0.343																																																1	Substitution - Missense(1)	kidney(1)											126	117	120					1																	36509078		2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2203A>G	1.37:g.36509078A>G	ENSP00000362287:p.Thr735Ala		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.730681	0.89390	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.42513	0.97;0.97	5.7	5.7	0.88788	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.78953	0.4365	H	0.98901	4.365	0.80722	D	1	D	0.57571	0.98	D	0.71414	0.973	D	0.87771	0.2605	10	0.87932	D	0	-2.748	15.971	0.80019	1.0:0.0:0.0:0.0	.	735	Q9H9G7	AGO3_HUMAN	A	735;501	ENSP00000362287:T735A;ENSP00000246314:T501A	ENSP00000246314:T501A	T	+	1	0	EIF2C3	36281665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.175000	0.68902	0.533000	0.62120	ACA		0.343	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		G	36509078	A	G	36509078	3	3	572	1	0	0	0	0	1	0	0	0	5009	43	2	3	2269	3	EIF2C3	1	36509078	Missense_Mutation	SNP	A	TCGA-CZ-4856-01A-02D-1429-08	638332	36509078	212741543	4	31125											
KPRP	448834	hgsc.bcm.edu;ucsc.edu	37	1	152732937	152732937	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr1:152732937delC	ENST00000606109.1	+	1	901	c.873delC	c.(871-873)ttcfs	p.F291fs	KPRP_ENST00000368773.1_Frame_Shift_Del_p.F291fs			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	291	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAAGGTTTCCCTAACTACT	0.597																																																0													45	50	48					1																	152732937		2203	4300	6503	SO:0001589	frameshift_variant	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.873delC	1.37:g.152732937delC	ENSP00000475216:p.Phe291fs			Frame_Shift_Del	DEL	ENST00000606109.1	37	CCDS30862.1																																																																																				0.597	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		-	152732937	C	-	152732937	7	5	572	1	0	1	0	1	0	0	0	0	8438	854	30	0	875	0	KPRP	1	152732937	Frame_Shift_Del	DEL	C	TCGA-CZ-4856-01A-02D-1429-08	116223859	152732937	96517684	5	31126											
CD1D	912	hgsc.bcm.edu;ucsc.edu	37	1	158151283	158151284	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr1:158151283_158151284insG	ENST00000368171.3	+	3	599_600	c.100_101insG	c.(100-102)tcgfs	p.S34fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	34					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCTCCAGATCTCGTCCTTCGCC	0.624																																																0																																										SO:0001589	frameshift_variant	912			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	Exception_encountered	1.37:g.158151283_158151284insG	ENSP00000357153:p.Ser34fs		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Ins	INS	ENST00000368171.3	37	CCDS1173.1																																																																																				0.624	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		G	158151284	-	G	158151283	7	5	572	1	0	1	1	0	0	0	0	0	2979	1551	54	0	106	0	CD1D	1	158151283	Frame_Shift_Ins	INS	-	TCGA-CZ-4856-01A-02D-1429-08	5418346	158151283	91099338	6	31127											
PLA2G4A	5321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186839572	186839572	+	Silent	SNP	G	G	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr1:186839572G>A	ENST00000367466.3	+	3	191	c.39G>A	c.(37-39)gaG>gaA	p.E13E	PLA2G4A_ENST00000442353.2_Silent_p.E13E|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	13	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.E13E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TCCAGGTGGAGCACCAGTATT	0.368																																																1	Substitution - coding silent(1)	kidney(1)											77	75	76					1																	186839572		2203	4300	6503	SO:0001819	synonymous_variant	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.39G>A	1.37:g.186839572G>A			B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	CCDS1372.1																																																																																				0.368	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		A	186839572	G	A	186839572	2	1	572	1	0	0	0	0	0	0	0	1	12003	962	34	2		2	PLA2G4A	1	186839572	Silent	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	28688289	186839572	62411049	7	31128											
NID1	4811	broad.mit.edu	37	1	236192916	236192916	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr1:236192916G>T	ENST00000264187.6	-	7	1754	c.1672C>A	c.(1672-1674)Cag>Aag	p.Q558K	NID1_ENST00000366595.3_Missense_Mutation_p.Q558K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	558	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.Q558K(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AACGGAATCTGCGGCACGCGG	0.647																																																1	Substitution - Missense(1)	kidney(1)											46	32	36					1																	236192916		2202	4300	6502	SO:0001583	missense	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1672C>A	1.37:g.236192916G>T	ENSP00000264187:p.Gln558Lys		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	8.319	0.823953	0.16678	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.31247	1.5;1.5	5.4	2.25	0.28309	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.304527	0.39210	N	0.001437	T	0.25827	0.0629	L	0.50333	1.59	0.26487	N	0.975003	B;B	0.15719	0.0;0.014	B;B	0.20184	0.001;0.028	T	0.17684	-1.0361	10	0.27785	T	0.31	.	10.0779	0.42370	0.0:0.5129:0.3703:0.1168	.	558;558	P14543-2;P14543	.;NID1_HUMAN	K	558	ENSP00000264187:Q558K;ENSP00000355554:Q558K	ENSP00000264187:Q558K	Q	-	1	0	NID1	234259539	0.998000	0.40836	0.127000	0.21898	0.211000	0.24417	3.398000	0.52579	0.783000	0.33636	0.563000	0.77884	CAG		0.647	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		T	236192916	G	T	236192916	3	4	572	1	0	0	0	0	1	0	0	0	10416	1328	46	4	2127	4	NID1	1	236192916	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	49353344	236192916	13057705	8	31129											
MARCH7	64844	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160585646	160585646	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr2:160585646A>G	ENST00000259050.4	+	2	235	c.113A>G	c.(112-114)cAc>cGc	p.H38R	MARCH7_ENST00000539065.1_Missense_Mutation_p.H38R|MARCH7_ENST00000409175.1_Missense_Mutation_p.H38R|MARCH7_ENST00000473749.1_3'UTR	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	38	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H38R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GATACCTATCACTCAAGAGAC	0.373																																																1	Substitution - Missense(1)	kidney(1)											69	70	70					2																	160585646		2203	4300	6503	SO:0001583	missense	64844			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.113A>G	2.37:g.160585646A>G	ENSP00000259050:p.His38Arg		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	A	9.751	1.167575	0.21621	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000421037	T;T;T;T	0.42131	2.79;2.76;2.79;0.98	5.9	4.75	0.60458	.	0.451628	0.25186	N	0.032490	T	0.29458	0.0734	L	0.44542	1.39	0.24772	N	0.992867	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.26815	-1.0092	10	0.10636	T	0.68	1.7908	6.9301	0.24437	0.7877:0.0:0.2123:0.0	.	38;38	F5H6W4;Q9H992	.;MARH7_HUMAN	R	38	ENSP00000386830:H38R;ENSP00000442992:H38R;ENSP00000259050:H38R;ENSP00000392862:H38R	ENSP00000259050:H38R	H	+	2	0	MARCH7	160293892	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	2.284000	0.43478	1.067000	0.40740	0.374000	0.22700	CAC		0.373	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		G	160585646	A	G	160585646	3	3	572	1	0	0	0	0	1	0	0	0	9308	159	6	3	115	3	MARCH7	2	160585646	Missense_Mutation	SNP	A	TCGA-CZ-4856-01A-02D-1429-08		160585646	82613727	9	31130											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10188322	10188322	+	Splice_Site	SNP	T	T	C	rs5030814|rs397516443	byFrequency	TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr3:10188322T>C	ENST00000256474.2	+	2	1303		c.e2+2		VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(15)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACTGCCAGGTACTGACGTTT	0.403		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	15	Unknown(15)	kidney(15)	GRCh37	CS961707	VHL	S	rs5030815						164	157	159					3																	10188322		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.463+2T>C	3.37:g.10188322T>C			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198543	0.58126	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3362	0.55069	0.0:0.0:0.0:1.0	rs5030815	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163322	1.000000	0.71417	0.976000	0.42696	0.760000	0.43138	5.968000	0.70413	1.873000	0.54277	0.379000	0.24179	.		0.403	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	C	10188322	T	C	10188322	5	2	572	1	0	0	0	0	0	0	1	0	17167	1652	57	3	471	3	VHL	3	10188322	Splice_Site	SNP	T	TCGA-CZ-4856-01A-02D-1429-08		10188322	187834108	10	31131											
FGD5	152273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	14964587	14964587	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr3:14964587C>T	ENST00000285046.5	+	16	3952	c.3842C>T	c.(3841-3843)cCg>cTg	p.P1281L	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Missense_Mutation_p.P1040L|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1281					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.P1281L(1)|p.P1040L(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AACAAGTACCCGCTGAAGTAC	0.617																																																2	Substitution - Missense(2)	kidney(2)											74	78	77					3																	14964587		2027	4183	6210	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3842C>T	3.37:g.14964587C>T	ENSP00000285046:p.Pro1281Leu		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175793	0.78564	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.10860	2.83;2.83	4.85	4.85	0.62838	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);	0.000000	0.53938	D	0.000055	T	0.26484	0.0647	L	0.41236	1.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01444	-1.1353	10	0.56958	D	0.05	-17.5501	17.9776	0.89132	0.0:1.0:0.0:0.0	.	1040;1281	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	L	1281;1040	ENSP00000285046:P1281L;ENSP00000445949:P1040L	ENSP00000285046:P1281L	P	+	2	0	FGD5	14939591	0.991000	0.36638	0.996000	0.52242	0.967000	0.64934	3.408000	0.52651	2.240000	0.73641	0.484000	0.47621	CCG		0.617	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		T	14964587	C	T	14964587	3	4	572	1	0	0	0	0	1	0	0	0	5838	652	23	1	3904	1	FGD5	3	14964587	Missense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08	4776265	14964587	183057843	11	31132											
EPHA6	285220	broad.mit.edu	37	3	96706398	96706398	+	Silent	SNP	A	A	G			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr3:96706398A>G	ENST00000389672.5	+	3	713	c.675A>G	c.(673-675)gaA>gaG	p.E225E	EPHA6_ENST00000542517.1_Silent_p.E131E|EPHA6_ENST00000470610.2_Silent_p.E225E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	131						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.E131E(2)|p.E225E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTATATGGAATCAGATGAGT	0.383																																																3	Substitution - coding silent(3)	kidney(3)											134	137	136					3																	96706398		1868	4101	5969	SO:0001819	synonymous_variant	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.675A>G	3.37:g.96706398A>G			D6RAL5	Silent	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	6.670	0.492192	0.12702	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	T	0.59932	0.2230	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59804	-0.7385	4	.	.	.	.	8.4773	0.33021	0.8517:0.0:0.1483:0.0	.	.	.	.	V	170	.	.	I	+	1	0	EPHA6	98189088	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.386000	0.59620	2.183000	0.69458	0.533000	0.62120	ATC		0.383	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		G	96706398	A	G	96706398	2	3	572	1	0	0	0	0	0	0	0	1	5173	98	4	3		3	EPHA6	3	96706398	Silent	SNP	A	TCGA-CZ-4856-01A-02D-1429-08	81741811	96706398	101316032	12	31133											
CLSTN2	64084	broad.mit.edu	37	3	140122558	140122558	+	Missense_Mutation	SNP	G	G	A	rs145666342		TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr3:140122558G>A	ENST00000458420.3	+	3	510	c.320G>A	c.(319-321)cGt>cAt	p.R107H	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R107H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCCGGCTCCGTGCCAAGAGC	0.562										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)											1	Substitution - Missense(1)	kidney(1)						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	146	138	140		320	5.6	1	3	dbSNP_134	140	0,8600		0,0,4300	yes	missense	CLSTN2	NM_022131.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	107/956	140122558	1,13005	2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.320G>A	3.37:g.140122558G>A	ENSP00000402460:p.Arg107His		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876514	0.91664	2.27E-4	0.0	ENSG00000158258	ENST00000458420	T	0.47869	0.83	5.64	5.64	0.86602	Cadherin (3);Cadherin-like (1);	0.062472	0.64402	D	0.000007	T	0.65322	0.2680	M	0.74881	2.28	0.58432	D	0.999997	D	0.71674	0.998	P	0.57324	0.818	T	0.69168	-0.5216	10	0.87932	D	0	-12.6193	17.2112	0.86930	0.0:0.0:1.0:0.0	.	107	Q9H4D0	CSTN2_HUMAN	H	107	ENSP00000402460:R107H	ENSP00000402460:R107H	R	+	2	0	CLSTN2	141605248	0.939000	0.31865	0.951000	0.38953	0.965000	0.64279	3.815000	0.55651	2.653000	0.90120	0.655000	0.94253	CGT		0.562	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		A	140122558	G	A	140122558	3	1	572	1	0	0	0	0	1	0	0	0	3564	1145	40	1	330	1	CLSTN2	3	140122558	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	43416160	140122558	57899872	13	31134											
FNDC3B	64778	broad.mit.edu	37	3	172096213	172096213	+	Silent	SNP	C	C	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr3:172096213C>T	ENST00000336824.4	+	24	3261	c.3162C>T	c.(3160-3162)ccC>ccT	p.P1054P	FNDC3B_ENST00000416957.1_Silent_p.P1054P|FNDC3B_ENST00000415807.2_Silent_p.P1054P	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1054					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.P1054P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AAAGTGTCCCCCCCACCATCA	0.463																																																1	Substitution - coding silent(1)	kidney(1)											66	67	67					3																	172096213		2203	4300	6503	SO:0001819	synonymous_variant	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3162C>T	3.37:g.172096213C>T			B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	CCDS3217.1																																																																																				0.463	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		T	172096213	C	T	172096213	2	4	572	1	0	0	0	0	0	0	0	1	5972	610	22	2		2	FNDC3B	3	172096213	Silent	SNP	C	TCGA-CZ-4856-01A-02D-1429-08	31973655	172096213	25926217	14	31135											
ACAP2	23527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	195009916	195009916	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr3:195009916G>A	ENST00000326793.6	-	21	2338	c.2108C>T	c.(2107-2109)aCt>aTt	p.T703I		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	703					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.T703I(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTCTTCATCAGTGGCATGTTG	0.368																																																1	Substitution - Missense(1)	kidney(1)											167	146	153					3																	195009916		2203	4300	6503	SO:0001583	missense	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.2108C>T	3.37:g.195009916G>A	ENSP00000324287:p.Thr703Ile		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532229	0.45073	.	.	ENSG00000114331	ENST00000326793	T	0.65364	-0.15	5.52	5.52	0.82312	Ankyrin repeat-containing domain (4);	0.053437	0.85682	D	0.000000	T	0.49012	0.1532	N	0.20610	0.595	0.41134	D	0.985906	B	0.23806	0.091	B	0.27170	0.077	T	0.45585	-0.9251	10	0.37606	T	0.19	.	14.0916	0.64995	0.0:0.1504:0.8496:0.0	.	703	Q15057	ACAP2_HUMAN	I	703	ENSP00000324287:T703I	ENSP00000324287:T703I	T	-	2	0	ACAP2	196491205	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.018000	0.49625	2.583000	0.87209	0.650000	0.86243	ACT		0.368	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		A	195009916	G	A	195009916	3	1	572	1	0	0	0	0	1	0	0	0	119	1029	36	2	240	2	ACAP2	3	195009916	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	22913703	195009916	3012514	15	31136											
PDE6B	5158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	654278	654278	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr4:654278C>G	ENST00000496514.1	+	12	1511	c.1490C>G	c.(1489-1491)aCc>aGc	p.T497S	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.T497S|PDE6B_ENST00000429163.2_Missense_Mutation_p.T218S			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	497					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.T497S(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CCAGGGCCCACCACATTTGAC	0.567																																					GBM(71;463 1194 9848 25922 46834)											1	Substitution - Missense(1)	kidney(1)											86	71	76					4																	654278		2203	4300	6503	SO:0001583	missense	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1490C>G	4.37:g.654278C>G	ENSP00000420295:p.Thr497Ser		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	C	0.478	-0.881225	0.02530	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.76578	-1.03;-1.03;-1.03	4.25	-3.28	0.05033	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.605907	0.17503	N	0.171912	T	0.62258	0.2413	L	0.42245	1.32	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.47736	-0.9094	10	0.21540	T	0.41	.	8.1805	0.31307	0.4683:0.2976:0.2341:0.0	.	497;497	P35913;P35913-2	PDE6B_HUMAN;.	S	497;497;218	ENSP00000255622:T497S;ENSP00000420295:T497S;ENSP00000406334:T218S	ENSP00000255622:T497S	T	+	2	0	PDE6B	644278	0.000000	0.05858	0.785000	0.31869	0.531000	0.34715	-1.739000	0.01840	-0.313000	0.08728	0.297000	0.19635	ACC		0.567	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		G	654278	C	G	654278	3	3	572	1	0	0	0	0	1	0	0	0	11648	507	18	4	1536	4	PDE6B	4	654278	Missense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08		654278	190499998	16	31137											
PRKG2	5593	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	82126123	82126123	+	Missense_Mutation	SNP	G	G	A	rs187350442		TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr4:82126123G>A	ENST00000395578.1	-	2	195	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	PRKG2_ENST00000418486.2_Missense_Mutation_p.R27W|PRKG2_ENST00000264399.1_Missense_Mutation_p.R27W			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	27					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.R27W(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACCTTGTTCCGCAGAGCATCA	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19454	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)						G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	86	80	82		79	4.2	1	4		82	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PRKG2	NM_006259.1	101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	27/763	82126123	3,13003	2203	4300	6503	SO:0001583	missense	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.79C>T	4.37:g.82126123G>A	ENSP00000378945:p.Arg27Trp		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	CCDS3589.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.71	1.720797	0.30503	2.27E-4	2.33E-4	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.70869	-0.4;-0.4;-0.52	5.1	4.25	0.50352	.	0.218260	0.45361	D	0.000375	T	0.55752	0.1940	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.988	B;B	0.44315	0.446;0.353	T	0.59595	-0.7425	10	0.72032	D	0.01	-10.0862	6.7167	0.23308	0.0809:0.0:0.4711:0.448	.	27;27	E7EPE6;Q13237	.;KGP2_HUMAN	W	27	ENSP00000378945:R27W;ENSP00000264399:R27W;ENSP00000389038:R27W	ENSP00000264399:R27W	R	-	1	2	PRKG2	82345147	0.972000	0.33761	1.000000	0.80357	0.561000	0.35649	0.506000	0.22658	1.366000	0.46076	0.585000	0.79938	CGG		0.527	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		A	82126123	G	A	82126123	3	1	572	1	0	0	0	0	1	0	0	0	12528	1086	38	1	2281	1	PRKG2	4	82126123	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	81471845	82126123	109028153	17	31138											
F11	2160	broad.mit.edu;hgsc.bcm.edu	37	4	187201213	187201213	+	Missense_Mutation	SNP	G	G	A	rs201688862		TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr4:187201213G>A	ENST00000403665.2	+	8	1155	c.803G>A	c.(802-804)cGc>cAc	p.R268H	F11_ENST00000264692.4_Missense_Mutation_p.R216H	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	268	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.R268H(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CCCAGTACACGCATTAAAAAG	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19173	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)	GRCh37	CM083501	F11	M							80	81	80					4																	187201213		2203	4300	6503	SO:0001583	missense	2160			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.803G>A	4.37:g.187201213G>A	ENSP00000384957:p.Arg268His		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	CCDS3847.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.23|12.23	1.876356|1.876356	0.33162|0.33162	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000452239|ENST00000403665;ENST00000264692	.|D;D	.|0.90004	.|-2.6;-2.6	5.49|5.49	3.73|3.73	0.42828|0.42828	.|Apple domain (3);PAN-1 domain (1);Apple-like (1);	.|0.578150	.|0.17984	.|N	.|0.155446	D|D	0.91081|0.91081	0.7193|0.7193	M|M	0.77313|0.77313	2.365|2.365	0.09310|0.09310	N|N	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.61658	.|0.892	T|T	0.80834|0.80834	-0.1205|-0.1205	5|10	.|0.14656	.|T	.|0.56	.|.	6.0532|6.0532	0.19796|0.19796	0.0744:0.1135:0.641:0.1711|0.0744:0.1135:0.641:0.1711	.|.	.|268	.|P03951	.|FA11_HUMAN	T|H	84|268;216	.|ENSP00000384957:R268H;ENSP00000264692:R216H	.|ENSP00000264692:R216H	A|R	+|+	1|2	0|0	F11|F11	187438207|187438207	0.001000|0.001000	0.12720|0.12720	0.374000|0.374000	0.26016|0.26016	0.188000|0.188000	0.23474|0.23474	0.734000|0.734000	0.26101|0.26101	0.774000|0.774000	0.33427|0.33427	0.644000|0.644000	0.83932|0.83932	GCA|CGC		0.393	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			A	187201213	G	A	187201213	3	1	572	1	0	0	0	0	1	0	0	0	5339	1087	38	1	829	1	F11	4	187201213	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	105075090	187201213	3953063	18	31139											
FSTL4	23105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132736492	132736492	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr5:132736492C>T	ENST00000265342.7	-	4	596	c.347G>A	c.(346-348)cGt>cAt	p.R116H		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	116	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R116H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAAGCAGCACGGTGGAGCTT	0.572																																																1	Substitution - Missense(1)	kidney(1)											51	47	49					5																	132736492		2203	4300	6503	SO:0001583	missense	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.347G>A	5.37:g.132736492C>T	ENSP00000265342:p.Arg116His		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690541	0.68271	.	.	ENSG00000053108	ENST00000265342;ENST00000510685	T;T	0.04758	3.56;3.56	5.57	4.7	0.59300	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.063903	0.64402	D	0.000012	T	0.26011	0.0634	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07849	-1.0751	10	0.87932	D	0	-12.5822	13.7393	0.62838	0.0:0.9261:0.0:0.0739	.	116	Q6MZW2	FSTL4_HUMAN	H	116;118	ENSP00000265342:R116H;ENSP00000427662:R118H	ENSP00000265342:R116H	R	-	2	0	FSTL4	132764391	1.000000	0.71417	0.971000	0.41717	0.317000	0.28152	4.546000	0.60705	1.374000	0.46228	-0.137000	0.14449	CGT		0.572	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		T	132736492	C	T	132736492	3	4	572	1	0	0	0	0	1	0	0	0	6081	536	19	1	2233	1	FSTL4	5	132736492	Missense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08		132736492	48178768	19	31140											
PCDHGB3	56102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140750994	140750994	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr5:140750994C>T	ENST00000576222.1	+	1	1164	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	345	Cadherin 3. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAATGCCCCGGAGATAAC	0.438																																																0													52	53	52					5																	140750994		1917	4138	6055	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1033C>T	5.37:g.140750994C>T	ENSP00000461862:p.Pro345Ser		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.438	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		T	140750994	C	T	140750994	3	4	572	1	0	0	0	0	1	0	0	0	11566	623	22	2	1035	2	PCDHGB3	5	140750994	Missense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08	8014502	140750994	40164266	20	31141											
ANXA6	309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150519791	150519791	+	Missense_Mutation	SNP	C	C	T	rs200516508		TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr5:150519791C>T	ENST00000354546.5	-	3	259	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	ANXA6_ENST00000377751.5_Missense_Mutation_p.R11Q|ANXA6_ENST00000521512.1_Missense_Mutation_p.R11Q|ANXA6_ENST00000356496.5_Missense_Mutation_p.R11Q|ANXA6_ENST00000523714.1_5'UTR	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	11					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.R11Q(1)|p.R63Q(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGGAGCCCCGGTACTTGGC	0.597																																																2	Substitution - Missense(2)	kidney(2)						C	GLN/ARG,	3,3797		0,3,1897	54	61	59		32,	4.4	1	5		59	0,8232		0,0,4116	yes	missense,utr-5	ANXA6	NM_001155.4,NM_001193544.1	43,	0,3,6013	TT,TC,CC		0.0,0.0789,0.0249	probably-damaging,	11/674,	150519791	3,12029	1900	4116	6016	SO:0001583	missense	309			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.32G>A	5.37:g.150519791C>T	ENSP00000346550:p.Arg11Gln		B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692583	0.68271	7.89E-4	0.0	ENSG00000197043	ENST00000354546;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000517486;ENST00000523164	T;T;T;T;T;T	0.11604	2.76;4.46;2.76;3.57;3.57;3.57	5.31	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.55743	1.74	0.50632	D	0.999881	B;D;D	0.89917	0.003;1.0;1.0	B;D;D	0.77557	0.003;0.99;0.99	T	0.00792	-1.1564	10	0.34782	T	0.22	.	12.9161	0.58207	0.0:0.9201:0.0:0.0799	.	11;11;11	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	Q	11	ENSP00000346550:R11Q;ENSP00000366980:R11Q;ENSP00000348889:R11Q;ENSP00000430420:R11Q;ENSP00000428916:R11Q;ENSP00000431078:R11Q	ENSP00000346550:R11Q	R	-	2	0	ANXA6	150499984	1.000000	0.71417	0.964000	0.40570	0.420000	0.31355	6.650000	0.74368	1.236000	0.43740	-0.258000	0.10820	CGG		0.597	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		T	150519791	C	T	150519791	3	4	572	1	0	0	0	0	1	0	0	0	722	652	23	1	2085	1	ANXA6	5	150519791	Missense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08	9768797	150519791	30395469	21	31142											
HIVEP1	3096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	12120167	12120167	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr6:12120167G>A	ENST00000379388.2	+	4	471	c.139G>A	c.(139-141)Ggt>Agt	p.G47S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	47					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G47S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATCCCTTAAAGGTGTGAAACG	0.363																																																1	Substitution - Missense(1)	kidney(1)											161	146	151					6																	12120167		1856	4086	5942	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.139G>A	6.37:g.12120167G>A	ENSP00000368698:p.Gly47Ser		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.456725|4.456725	0.84317|0.84317	.|.	.|.	ENSG00000095951|ENSG00000095951	ENST00000442081|ENST00000491710;ENST00000487103;ENST00000379388;ENST00000478545	.|T	.|0.13657	.|2.57	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|0.000000	0.37012|0.37012	N|N	0.002291|0.002291	T|T	0.25901|0.25901	0.0631|0.0631	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|P	.|0.60541	.|0.876	T|T	0.00276|0.00276	-1.1855|-1.1855	7|10	0.87932|0.48119	D|T	0|0.1	-24.7348|-24.7348	20.04|20.04	0.97581|0.97581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|47	.|P15822	.|ZEP1_HUMAN	R|S	56|47	.|ENSP00000368698:G47S	ENSP00000409078:G56R|ENSP00000368698:G47S	G|G	+|+	1|1	0|0	HIVEP1|HIVEP1	12228153|12228153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.557000|7.557000	0.82243|0.82243	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GGA|GGT		0.363	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12120167	G	A	12120167	3	1	572	1	0	0	0	0	1	0	0	0	7188	1000	35	2	149	2	HIVEP1	6	12120167	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08		12120167	158994900	22	31143											
BRPF3	27154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36185716	36185716	+	Silent	SNP	A	A	G			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr6:36185716A>G	ENST00000357641.6	+	9	3265	c.3012A>G	c.(3010-3012)aaA>aaG	p.K1004K	BRPF3_ENST00000543502.1_Silent_p.K734K|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Silent_p.K1004K|BRPF3_ENST00000339717.7_Silent_p.K734K|BRPF3_ENST00000443324.2_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1004					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.K1004K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCTTTGGAAAACACACCGAAA	0.517																																																1	Substitution - coding silent(1)	kidney(1)											169	138	149					6																	36185716		2203	4300	6503	SO:0001819	synonymous_variant	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3012A>G	6.37:g.36185716A>G			A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	CCDS34437.1																																																																																				0.517	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		G	36185716	A	G	36185716	2	3	572	1	0	0	0	0	0	0	0	1	1523	40	2	3		3	BRPF3	6	36185716	Silent	SNP	A	TCGA-CZ-4856-01A-02D-1429-08	24065549	36185716	134929351	23	31144											
BMP5	653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	55620404	55620404	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr6:55620404T>A	ENST00000370830.3	-	7	1990	c.1292A>T	c.(1291-1293)tAc>tTc	p.Y431F	BMP5_ENST00000446683.2_Missense_Mutation_p.Y394F	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	431					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.Y431F(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTCATCAAAGTACAGAACAGA	0.348																																																1	Substitution - Missense(1)	kidney(1)											105	105	105					6																	55620404		2203	4299	6502	SO:0001583	missense	653				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1292A>T	6.37:g.55620404T>A	ENSP00000359866:p.Tyr431Phe		B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258985	0.80246	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.84370	-1.84;-1.84	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89813	0.3983	10	0.59425	D	0.04	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	394;431	B4E0Y4;P22003	.;BMP5_HUMAN	F	431;394	ENSP00000359866:Y431F;ENSP00000391818:Y394F	ENSP00000359866:Y431F	Y	-	2	0	BMP5	55728363	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.997000	0.88414	2.302000	0.77476	0.533000	0.62120	TAC		0.348	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			A	55620404	T	A	55620404	3	1	572	1	0	0	0	0	1	0	0	0	1463	1638	57	5	76	5	BMP5	6	55620404	Missense_Mutation	SNP	T	TCGA-CZ-4856-01A-02D-1429-08	19434688	55620404	115494663	24	31145											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56357198	56357198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr6:56357198G>A	ENST00000361203.3	-	80	19631	c.19624C>T	c.(19624-19626)Cag>Tag	p.Q6542*	DST_ENST00000370788.2_Nonsense_Mutation_p.Q4456*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q6653*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q4239*|DST_ENST00000370754.5_Nonsense_Mutation_p.Q6831*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q6327*|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.Q4565*|DST_ENST00000340834.4_5'Flank			Q03001	DYST_HUMAN	dystonin	6542					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q4239*(1)|p.Q6653*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTATTATCTGCTCACGATGA	0.328																																																2	Substitution - Nonsense(2)	kidney(2)											103	96	99					6																	56357198		1806	4066	5872	SO:0001587	stop_gained	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19624C>T	6.37:g.56357198G>A	ENSP00000354508:p.Gln6542*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	58	32.223853	0.99980	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.08	5.08	0.68730	.	0.000000	0.47852	D	0.000203	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	18.821	0.92097	0.0:0.0:1.0:0.0	.	.	.	.	X	4239;6831;6653;4565;6327;4456;6542	.	ENSP00000244364:Q4239X	Q	-	1	0	DST	56465157	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.715000	0.98748	2.525000	0.85131	0.591000	0.81541	CAG		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		A	56357198	G	A	56357198	4	1	572	1	0	0	0	0	0	1	0	0	4785	1328	46	2	2876	2	DST	6	56357198	Nonsense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	736794	56357198	114757869	25	31146											
SLC17A5	26503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	74354149	74354149	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr6:74354149T>G	ENST00000355773.5	-	2	540	c.272A>C	c.(271-273)aAa>aCa	p.K91T	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Missense_Mutation_p.K91T	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	91					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)	p.K91T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGATGAACTTTTATGGGAGC	0.323																																																1	Substitution - Missense(1)	kidney(1)											62	63	63					6																	74354149		2203	4300	6503	SO:0001583	missense	26503			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.272A>C	6.37:g.74354149T>G	ENSP00000348019:p.Lys91Thr		Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	T	0.360	-0.939949	0.02322	.	.	ENSG00000119899	ENST00000355773;ENST00000393019	T;T	0.80393	-0.23;-1.37	5.61	2.81	0.32909	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.811931	0.11280	N	0.580415	T	0.41282	0.1152	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.22417	-1.0217	10	0.15066	T	0.55	.	3.5544	0.07858	0.1198:0.076:0.2463:0.5579	.	91	Q9NRA2	S17A5_HUMAN	T	91	ENSP00000348019:K91T;ENSP00000376742:K91T	ENSP00000348019:K91T	K	-	2	0	SLC17A5	74410870	0.004000	0.15560	0.022000	0.16811	0.416000	0.31233	0.647000	0.24812	0.905000	0.36596	0.482000	0.46254	AAA		0.323	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			G	74354149	T	G	74354149	3	3	572	1	0	0	0	0	1	0	0	0	14426	1841	64	5	1255	5	SLC17A5	6	74354149	Missense_Mutation	SNP	T	TCGA-CZ-4856-01A-02D-1429-08	17996951	74354149	96760918	26	31147											
IRAK1BP1	134728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	79607842	79607842	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr6:79607842C>A	ENST00000369940.2	+	4	679	c.574C>A	c.(574-576)Ctt>Att	p.L192I	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.L105I	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	192					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L192I(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AGTCTGTAACCTTGTTGGCCA	0.408																																																1	Substitution - Missense(1)	kidney(1)											93	91	92					6																	79607842		2203	4300	6503	SO:0001583	missense	134728			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.574C>A	6.37:g.79607842C>A	ENSP00000358956:p.Leu192Ile			Missense_Mutation	SNP	ENST00000369940.2	37	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273855	0.59649	.	.	ENSG00000146243	ENST00000369940	.	.	.	4.84	4.84	0.62591	.	0.072292	0.56097	D	0.000025	T	0.44008	0.1273	L	0.59436	1.845	0.34974	D	0.753474	P	0.40398	0.716	P	0.48063	0.565	T	0.47522	-0.9111	8	.	.	.	-3.0086	10.2953	0.43620	0.0:0.9093:0.0:0.0907	.	192	Q5VVH5	IKBP1_HUMAN	I	192	.	.	L	+	1	0	IRAK1BP1	79664561	0.479000	0.25925	1.000000	0.80357	0.998000	0.95712	0.818000	0.27295	2.506000	0.84524	0.655000	0.94253	CTT		0.408	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	XM_059729		A	79607842	C	A	79607842	3	1	572	1	0	0	0	0	1	0	0	0	7824	681	24	4	588	4	IRAK1BP1	6	79607842	Missense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08	5253693	79607842	91507225	27	31148											
PODXL	5420	broad.mit.edu;hgsc.bcm.edu	37	7	131194125	131194125	+	Splice_Site	SNP	C	C	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr7:131194125C>T	ENST00000378555.3	-	4	1269	c.1022G>A	c.(1021-1023)tGg>tAg	p.W341*	PODXL_ENST00000537928.1_Nonsense_Mutation_p.W309*|PODXL_ENST00000541194.1_Splice_Site_p.W343*|PODXL_ENST00000322985.9_Splice_Site_p.W309*|PODXL_ENST00000465001.1_5'Flank			O00592	PODXL_HUMAN	podocalyxin-like	341					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.W341*(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGGAGTTACCCAGTTACTCTC	0.557																																																1	Substitution - Nonsense(1)	kidney(1)											132	126	128					7																	131194125		2203	4300	6503	SO:0001630	splice_region_variant	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1023+1G>A	7.37:g.131194125C>T			A6NHX8|Q52LZ7|Q53ER6	Nonsense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783504	0.70222	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	.	.	.	3.45	-3.32	0.04973	.	1.462480	0.04204	N	0.330471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-5.8433	4.4635	0.11678	0.0:0.2042:0.3329:0.4629	.	.	.	.	X	343;309;299;341;309	.	ENSP00000319782:W309X	W	-	2	0	PODXL	130844665	0.053000	0.20554	0.011000	0.14972	0.008000	0.06430	-0.162000	0.10012	-0.700000	0.05070	-0.145000	0.13849	TGG		0.557	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	Nonsense_Mutation	T	131194125	C	T	131194125	5	4	572	1	0	0	0	0	0	0	1	0	12182	608	21	2	678	2	PODXL	7	131194125	Splice_Site	SNP	C	TCGA-CZ-4856-01A-02D-1429-08		131194125	27944538	28	31149											
EIF2C2	27161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141559213	141559213	+	Splice_Site	SNP	C	C	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr8:141559213C>T	ENST00000220592.5	-	12	1700	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	AGO2_ENST00000519980.1_Splice_Site_p.A530T	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	530	Interaction with guide RNA.|Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.A530T(1)									CCACACCTACCGTACACGGGC	0.647																																																1	Substitution - Missense(1)	kidney(1)											40	40	40					8																	141559213		2203	4299	6502	SO:0001630	splice_region_variant	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1588+1G>A	8.37:g.141559213C>T			Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400185	0.83120	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.29917	1.55;1.55	5.06	5.06	0.68205	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.71206	2.165	0.80722	D	1	D;D	0.60575	0.988;0.966	P;P	0.58210	0.814;0.835	T	0.50857	-0.8778	9	.	.	.	-7.199	18.7924	0.91980	0.0:1.0:0.0:0.0	.	530;530	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	T	530	ENSP00000220592:A530T;ENSP00000430176:A530T	.	A	-	1	0	EIF2C2	141628395	1.000000	0.71417	0.837000	0.33122	0.016000	0.09150	7.713000	0.84693	2.523000	0.85059	0.563000	0.77884	GCC		0.647	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4		Missense_Mutation	T	141559213	C	T	141559213	5	4	572	1	0	0	0	0	0	0	1	0	5008	666	23	1	1023	1	EIF2C2	8	141559213	Splice_Site	SNP	C	TCGA-CZ-4856-01A-02D-1429-08		141559213	4804809	29	31150											
LY6E	4061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144103076	144103077	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr8:144103076_144103077GC>CT	ENST00000520466.1	+	5	669_670	c.266_267GC>CT	c.(265-267)gGC>gCT	p.G89A	LY6E_ENST00000521182.1_3'UTR|LY6E_ENST00000292494.6_Missense_Mutation_p.G89A|LY6E_ENST00000522971.1_Missense_Mutation_p.G89A|LY6E_ENST00000429120.2_Missense_Mutation_p.G89A|LY6E_ENST00000519611.1_3'UTR|LY6E_ENST00000517503.1_3'UTR|LY6E_ENST00000521003.1_Missense_Mutation_p.G89A|LY6E_ENST00000521699.1_Missense_Mutation_p.G89A|LY6E_ENST00000523847.1_Intron|LY6E_ENST00000522528.1_3'UTR|LY6E_ENST00000522024.1_Missense_Mutation_p.G89A|LY6E_ENST00000519546.1_3'UTR			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	89	UPAR/Ly6.				adrenal gland development (GO:0030325)|cell surface receptor signaling pathway (GO:0007166)|epinephrine secretion (GO:0048242)|in utero embryonic development (GO:0001701)|norepinephrine metabolic process (GO:0042415)|organ growth (GO:0035265)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)		p.G89A(1)|p.G89G(1)|p.G89>?(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCTTCCATGGGCATCAGCTGCT	0.629																																																3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	4061			U42376	CCDS6394.1	8q24	2008-08-07				ENSG00000160932			6727	protein-coding gene	gene with protein product	"retinoic acid induced gene E"	601384				8757598, 8650192	Standard	NM_001127213		Approved	TSA-1, RIG-E, SCA-2	uc003yxm.2	Q16553		Exception_encountered	8.37:g.144103076_144103077delinsCT	ENSP00000428572:p.Gly89Ala		B2R4X5|D3DWJ2|Q0VDE5	Missense_Mutation|Silent	SNP	ENST00000520466.1	37	CCDS6394.1																																																																																				0.629	LY6E-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380125.1	NM_001127213		CT	144103077	GC	CT	144103076	3	2	572	1	0	0	0	0	1	0	0	0	9093	1203	42	4	276	4	LY6E	8	144103076	Missense_Mutation	DNP	GC	TCGA-CZ-4856-01A-02D-1429-08	2543863	144103076	2260946	30	31151											
C9orf131	138724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35044086	35044086	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr9:35044086C>T	ENST00000312292.5	+	2	1507	c.1460C>T	c.(1459-1461)cCc>cTc	p.P487L	C9orf131_ENST00000421362.2_Missense_Mutation_p.P439L|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.P414L	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	487								p.P487L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GTAATGGGCCCCCAGGGAGTC	0.537																																																1	Substitution - Missense(1)	kidney(1)											74	80	78					9																	35044086		2203	4300	6503	SO:0001583	missense	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1460C>T	9.37:g.35044086C>T	ENSP00000308279:p.Pro487Leu		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	9.446	1.089386	0.20390	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.17854	2.25;2.25;2.26	5.24	-1.01	0.10169	.	1.380470	0.04498	N	0.380714	T	0.11922	0.0290	L	0.28115	0.83	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.33471	-0.9867	10	0.28530	T	0.3	3.0964	6.611	0.22751	0.0:0.5596:0.1246:0.3158	.	487;414;439	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	L	439;414;487	ENSP00000393683:P439L;ENSP00000346472:P414L;ENSP00000308279:P487L	ENSP00000308279:P487L	P	+	2	0	C9orf131	35034086	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.340000	0.07821	-0.100000	0.12241	-1.990000	0.00449	CCC		0.537	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		T	35044086	C	T	35044086	3	4	572	1	0	0	0	0	1	0	0	0	2459	623	22	2	1482	2	C9orf131	9	35044086	Missense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08		35044086	106169345	31	31152											
CCDC109A	90550	hgsc.bcm.edu;ucsc.edu	37	10	74645575	74645578	+	Stop_Codon_Del	DEL	GATT	GATT	-	rs142030206	byFrequency	TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	GATT	GATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr10:74645575_74645578delGATT	ENST00000373053.3	+	0	1072_1075				MCU_ENST00000605416.1_3'UTR|MCU_ENST00000357157.6_Stop_Codon_Del|MCU_ENST00000536019.1_Stop_Codon_Del	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter						calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TGGTGAAAAAGATTGATCTGCAAA	0.436																																																0																																										SO:0001567	stop_retained_variant	0			BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"coiled-coil domain containing 109A"	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	Exception_encountered	10.37:g.74645575_74645578delGATT	ENSP00000362144:p.*352Leuext*52		B2RDF3|B3KXV7|Q96FL3	Frame_Shift_Del	DEL	ENST00000373053.3	37	CCDS7317.1																																																																																				0.436	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		-	74645578	GATT	-	74645575	7	5	572	1	0	1	0	1	0	0	0	0	2746	942	33	0	1081	0	CCDC109A	10	74645575	Stop_Codon_Del	DEL	GATT	TCGA-CZ-4856-01A-02D-1429-08		74645575	60889172	32	31153											
PPP1R3C	5507	hgsc.bcm.edu;ucsc.edu	37	10	93389894	93389894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr10:93389894delG	ENST00000238994.5	-	2	828	c.744delC	c.(742-744)aacfs	p.N249fs		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GACCATCATTGTTGTCCCAAA	0.458																																																0													105	93	97					10																	93389894		2203	4300	6503	SO:0001589	frameshift_variant	5507			Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9293	protein-coding gene	gene with protein product	"Phosphatase 1, regulatory inhibitor subunit 5", "protein targeting to glycogen"	602999	"protein phosphatase 1, regulatory (inhibitor) subunit 3C"	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.744delC	10.37:g.93389894delG	ENSP00000238994:p.Asn249fs			Frame_Shift_Del	DEL	ENST00000238994.5	37	CCDS7416.1																																																																																				0.458	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		-	93389894	G	-	93389894	7	5	572	1	0	1	0	1	0	0	0	0	12378	1368	48	0	213	0	PPP1R3C	10	93389894	Frame_Shift_Del	DEL	G	TCGA-CZ-4856-01A-02D-1429-08	18744319	93389894	42144853	33	31154											
OR5P2	120065	broad.mit.edu;hgsc.bcm.edu	37	11	7818120	7818120	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr11:7818120T>A	ENST00000329434.2	-	1	400	c.370A>T	c.(370-372)Agt>Tgt	p.S124C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S124C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCAGTGGACTGCAAATTGCC	0.473																																																1	Substitution - Missense(1)	kidney(1)											77	89	85					11																	7818120		2104	4292	6396	SO:0001583	missense	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.370A>T	11.37:g.7818120T>A	ENSP00000331823:p.Ser124Cys		Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.712432	0.30322	.	.	ENSG00000183303	ENST00000329434	T	0.00482	7.1	5.5	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.608344	0.17335	N	0.177942	T	0.00412	0.0013	L	0.28192	0.835	0.09310	N	0.99999	P	0.51147	0.942	P	0.48227	0.571	T	0.58216	-0.7675	10	0.72032	D	0.01	-24.2936	7.0284	0.24952	0.0:0.1711:0.0:0.8289	.	124	Q8WZ92	OR5P2_HUMAN	C	124	ENSP00000331823:S124C	ENSP00000331823:S124C	S	-	1	0	OR5P2	7774696	0.002000	0.14202	0.990000	0.47175	0.250000	0.25880	0.161000	0.16481	1.098000	0.41479	0.454000	0.30748	AGT		0.473	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		A	7818120	T	A	7818120	3	1	572	1	0	0	0	0	1	0	0	0	11180	1580	55	5	602	5	OR5P2	11	7818120	Missense_Mutation	SNP	T	TCGA-CZ-4856-01A-02D-1429-08		7818120	127188396	34	31155											
C11orf46	120534	broad.mit.edu;hgsc.bcm.edu	37	11	30358133	30358133	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr11:30358133A>T	ENST00000282032.3	+	4	789	c.574A>T	c.(574-576)Agt>Tgt	p.S192C		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	192						cytoplasm (GO:0005737)		p.S192C(1)									ACCAGCAAAGAGTAAGGTCTA	0.348																																																1	Substitution - Missense(1)	kidney(1)											137	116	123					11																	30358133		2202	4299	6501	SO:0001583	missense	0			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"chromosome 11 open reading frame 46"	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.574A>T	11.37:g.30358133A>T	ENSP00000282032:p.Ser192Cys		Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899564	0.72754	.	.	ENSG00000152219	ENST00000282032	T	0.65178	-0.14	5.87	5.87	0.94306	.	0.136113	0.52532	D	0.000079	T	0.72930	0.3522	L	0.46157	1.445	0.58432	D	0.999992	D	0.71674	0.998	D	0.64506	0.926	T	0.74359	-0.3691	10	0.59425	D	0.04	-14.4295	16.5764	0.84681	1.0:0.0:0.0:0.0	.	192	Q8N8R7	CK046_HUMAN	C	192	ENSP00000282032:S192C	ENSP00000282032:S192C	S	+	1	0	C11orf46	30314709	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	7.207000	0.77899	2.371000	0.80710	0.533000	0.62120	AGT		0.348	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		T	30358133	A	T	30358133	3	4	572	1	0	0	0	0	1	0	0	0	1645	304	11	5	584	5	C11orf46	11	30358133	Missense_Mutation	SNP	A	TCGA-CZ-4856-01A-02D-1429-08	22540013	30358133	104648383	35	31156											
GPRC5A	9052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	13061472	13061472	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr12:13061472C>G	ENST00000014914.5	+	2	1179	c.289C>G	c.(289-291)Cgc>Ggc	p.R97G	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	97					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R97G(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	AGGGCCCACACGCTTCTTCCT	0.572																																																1	Substitution - Missense(1)	kidney(1)											168	158	161					12																	13061472		2203	4300	6503	SO:0001583	missense	9052			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"GPCR / Class C : Orphans"	9836	protein-coding gene	gene with protein product		604138	"retinoic acid induced 3", "G protein-coupled receptor, family C, group 5, member A"	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.289C>G	12.37:g.13061472C>G	ENSP00000014914:p.Arg97Gly		B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	37	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658405	0.67586	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	D;D	0.90620	-2.7;-2.7	5.63	5.63	0.86233	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	M	0.83774	2.66	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95592	0.8655	10	0.87932	D	0	-4.1183	14.5045	0.67743	0.1467:0.8533:0.0:0.0	.	97;97	Q8NFJ5;A8K556	RAI3_HUMAN;.	G	97	ENSP00000014914:R97G;ENSP00000441627:R97G	ENSP00000014914:R97G	R	+	1	0	GPRC5A	12952739	0.998000	0.40836	0.987000	0.45799	0.439000	0.31926	3.750000	0.55157	2.659000	0.90383	0.561000	0.74099	CGC		0.572	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			G	13061472	C	G	13061472	3	3	572	1	0	0	0	0	1	0	0	0	6726	536	19	4	291	4	GPRC5A	12	13061472	Missense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08		13061472	120790423	36	31157											
GRIN2B	2904	broad.mit.edu;hgsc.bcm.edu	37	12	13717155	13717155	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr12:13717155C>G	ENST00000609686.1	-	13	3226	c.3017G>C	c.(3016-3018)tGt>tCt	p.C1006S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1006					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.C1006S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGGTTGTCACAGTCGTAGAG	0.587																																																1	Substitution - Missense(1)	kidney(1)											129	100	109					12																	13717155		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3017G>C	12.37:g.13717155C>G	ENSP00000477455:p.Cys1006Ser		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037091	0.35893	.	.	ENSG00000150086	ENST00000279593	T	0.11385	2.78	4.97	4.97	0.65823	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20618	0.0496	L	0.36672	1.1	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.01371	-1.1372	10	0.02654	T	1	.	18.4248	0.90605	0.0:1.0:0.0:0.0	.	1006	Q13224	NMDE2_HUMAN	S	1006	ENSP00000279593:C1006S	ENSP00000279593:C1006S	C	-	2	0	GRIN2B	13608422	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.725000	0.68507	2.596000	0.87737	0.655000	0.94253	TGT		0.587	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			G	13717155	C	G	13717155	3	3	572	1	0	0	0	0	1	0	0	0	6782	478	17	4	1441	4	GRIN2B	12	13717155	Missense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08	655683	13717155	120134740	37	31158											
CEP290	80184	hgsc.bcm.edu;ucsc.edu	37	12	88471086	88471086	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr12:88471086delA	ENST00000552810.1	-	41	5965	c.5622delT	c.(5620-5622)attfs	p.I1874fs	CEP290_ENST00000309041.7_Frame_Shift_Del_p.I1876fs|CEP290_ENST00000547691.2_Frame_Shift_Del_p.I934fs|CEP290_ENST00000397838.3_Frame_Shift_Del_p.I934fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1874					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GGAGTTCTTCAATTAGACTTT	0.289																																																0													78	65	69					12																	88471086		1789	4053	5842	SO:0001589	frameshift_variant	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5622delT	12.37:g.88471086delA	ENSP00000448012:p.Ile1874fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	ENST00000552810.1	37	CCDS55858.1																																																																																				0.289	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		-	88471086	A	-	88471086	7	5	572	1	0	1	0	1	0	0	0	0	3255	126	5	0	1873	0	CEP290	12	88471086	Frame_Shift_Del	DEL	A	TCGA-CZ-4856-01A-02D-1429-08	74753931	88471086	45380809	38	31159											
C14orf106	55320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45673409	45673409	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr14:45673409C>T	ENST00000310806.4	-	17	3760	c.3302G>A	c.(3301-3303)gGa>gAa	p.G1101E		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1101					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G1101E(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						AGAGTTTTCTCCTAAGTCTGT	0.274																																																1	Substitution - Missense(1)	kidney(1)											26	29	28					14																	45673409		2191	4277	6468	SO:0001583	missense	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.3302G>A	14.37:g.45673409C>T	ENSP00000309790:p.Gly1101Glu		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060823	0.36373	.	.	ENSG00000129534	ENST00000310806	T	0.19394	2.15	5.51	-1.22	0.09494	.	0.736603	0.13396	N	0.391038	T	0.12944	0.0314	L	0.44542	1.39	0.09310	N	0.999999	P	0.34462	0.454	B	0.22152	0.038	T	0.11641	-1.0579	10	0.56958	D	0.05	-2.2894	6.2905	0.21057	0.211:0.2876:0.436:0.0654	.	1101	Q6P0N0	M18BP_HUMAN	E	1101	ENSP00000309790:G1101E	ENSP00000309790:G1101E	G	-	2	0	MIS18BP1	44743159	0.002000	0.14202	0.891000	0.34965	0.869000	0.49853	-0.861000	0.04268	-0.204000	0.10235	-0.315000	0.08773	GGA		0.274	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			T	45673409	C	T	45673409	3	4	572	1	0	0	0	0	1	0	0	0	1740	855	30	2	100	2	C14orf106	14	45673409	Missense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08		45673409	61676131	39	31160											
MUDENG	55745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	57748924	57748924	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr14:57748924G>A	ENST00000261558.3	+	4	1472	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	AP5M1_ENST00000431972.2_Missense_Mutation_p.A370T|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	356	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)		p.A356T(1)									ATTCTGTGAAGCCCATATACC	0.299																																																1	Substitution - Missense(1)	kidney(1)											34	36	35					14																	57748924		2199	4280	6479	SO:0001583	missense	0			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1066G>A	14.37:g.57748924G>A	ENSP00000261558:p.Ala356Thr		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174331	0.94807	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.19938	2.11;2.11	5.96	5.96	0.96718	Clathrin adaptor, mu subunit, C-terminal (3);	0.044831	0.85682	D	0.000000	T	0.48786	0.1519	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.26430	-1.0103	10	0.46703	T	0.11	.	20.4123	0.99019	0.0:0.0:1.0:0.0	.	356	Q9H0R1	MUDEN_HUMAN	T	356;370	ENSP00000261558:A356T;ENSP00000390531:A370T	ENSP00000261558:A356T	A	+	1	0	MUDENG	56818677	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.471000	0.97696	2.824000	0.97209	0.655000	0.94253	GCC		0.299	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		A	57748924	G	A	57748924	3	1	572	1	0	0	0	0	1	0	0	0	9985	971	34	2	1080	2	MUDENG	14	57748924	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	12075515	57748924	49600616	40	31161											
WDR25	79446	hgsc.bcm.edu;ucsc.edu	37	14	100847481	100847481	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr14:100847481delG	ENST00000335290.6	+	2	446	c.220delG	c.(220-222)gggfs	p.G75fs	WDR25_ENST00000402312.3_Frame_Shift_Del_p.G75fs|WDR25_ENST00000554998.1_Frame_Shift_Del_p.G75fs|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554175.1_Frame_Shift_Del_p.G75fs	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	75										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TGAAGACCCAGGGGGCTATCG	0.597																																																0													46	45	46					14																	100847481		2203	4300	6503	SO:0001589	frameshift_variant	79446			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.220delG	14.37:g.100847481delG	ENSP00000334148:p.Gly75fs		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Frame_Shift_Del	DEL	ENST00000335290.6	37	CCDS32157.1																																																																																				0.597	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		-	100847481	G	-	100847481	7	5	572	1	0	1	0	1	0	0	0	0	17287	1000	35	0	222	0	WDR25	14	100847481	Frame_Shift_Del	DEL	G	TCGA-CZ-4856-01A-02D-1429-08	43098557	100847481	6502059	41	31162											
RPAP1	26015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41822090	41822090	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr15:41822090G>A	ENST00000304330.4	-	8	1147	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	RPAP1_ENST00000568413.1_5'UTR|RPAP1_ENST00000561603.1_Missense_Mutation_p.P344L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	344						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.P344L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCGGACAGGGGGCAAGTCCTG	0.622																																																1	Substitution - Missense(1)	kidney(1)											47	43	44					15																	41822090		2203	4300	6503	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1031C>T	15.37:g.41822090G>A	ENSP00000306123:p.Pro344Leu		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682842	0.88542	.	.	ENSG00000103932	ENST00000304330	T	0.14391	2.51	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.19811	-1.0294	10	0.87932	D	0	-19.59	16.8033	0.85619	0.0:0.0:1.0:0.0	.	344	Q9BWH6	RPAP1_HUMAN	L	344	ENSP00000306123:P344L	ENSP00000306123:P344L	P	-	2	0	RPAP1	39609382	1.000000	0.71417	0.998000	0.56505	0.705000	0.40729	8.620000	0.90943	2.471000	0.83476	0.563000	0.77884	CCC		0.622	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		A	41822090	G	A	41822090	3	1	572	1	0	0	0	0	1	0	0	0	13547	1232	43	2	3222	2	RPAP1	15	41822090	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08		41822090	60709302	42	31163											
APH1B	83464	broad.mit.edu;hgsc.bcm.edu	37	15	63569840	63569840	+	Silent	SNP	C	C	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr15:63569840C>T	ENST00000261879.5	+	1	88	c.18C>T	c.(16-18)ttC>ttT	p.F6F	APH1B_ENST00000380343.4_Silent_p.F6F	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	6					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)	p.F6F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						CGGCCGTGTTCTTCGGCTGCG	0.687																																																1	Substitution - coding silent(1)	kidney(1)											38	39	39					15																	63569840		2203	4300	6503	SO:0001819	synonymous_variant	83464			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"anterior pharynx defective 1 homolog B (C. elegans)"			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.18C>T	15.37:g.63569840C>T			A8K589|Q564N3|Q6UWQ1|Q9H0S0	Silent	SNP	ENST00000261879.5	37	CCDS10184.1																																																																																				0.687	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301		T	63569840	C	T	63569840	2	4	572	1	0	0	0	0	0	0	0	1	772	912	32	2		2	APH1B	15	63569840	Silent	SNP	C	TCGA-CZ-4856-01A-02D-1429-08	21747750	63569840	38961552	43	31164											
ATP2A1	487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28909648	28909648	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr16:28909648C>T	ENST00000357084.3	+	14	1907	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V	ATP2A1_ENST00000395503.4_Missense_Mutation_p.A547V|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A422V	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	547					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.A547V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AAGATCATGGCGGTGATCAAG	0.652																																																1	Substitution - Missense(1)	kidney(1)											55	61	59					16																	28909648		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1640C>T	16.37:g.28909648C>T	ENSP00000349595:p.Ala547Val		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459903	0.63401	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.83419	-1.72;-1.72;-1.72	5.43	5.43	0.79202	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.604497	0.17647	N	0.166834	D	0.84955	0.5587	M	0.75264	2.295	0.33436	D	0.581712	B;B;B	0.24618	0.107;0.021;0.056	B;B;B	0.29176	0.014;0.099;0.06	D	0.87229	0.2259	10	0.66056	D	0.02	.	17.9902	0.89166	0.0:1.0:0.0:0.0	.	422;547;547	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	V	547;547;584;422	ENSP00000349595:A547V;ENSP00000378879:A547V;ENSP00000443101:A422V	ENSP00000349595:A547V	A	+	2	0	ATP2A1	28817149	0.014000	0.17966	0.013000	0.15412	0.517000	0.34286	2.609000	0.46317	2.533000	0.85409	0.655000	0.94253	GCG		0.652	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		T	28909648	C	T	28909648	3	4	572	1	0	0	0	0	1	0	0	0	1136	768	27	1	1694	1	ATP2A1	16	28909648	Missense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08		28909648	61445105	44	31165											
RSPRY1	89970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57265168	57265168	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr16:57265168T>C	ENST00000537866.1	+	13	2339	c.1466T>C	c.(1465-1467)aTg>aCg	p.M489T	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.M489T			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	489						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.M489T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCACCATCTATGAAATTTAGC	0.368																																																1	Substitution - Missense(1)	kidney(1)											109	104	106					16																	57265168		2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1466T>C	16.37:g.57265168T>C	ENSP00000443176:p.Met489Thr		Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	T	6.239	0.412152	0.11812	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.84223	-1.82;-1.82	5.78	3.55	0.40652	.	0.605012	0.19927	N	0.102955	T	0.65207	0.2669	N	0.08118	0	0.31305	N	0.687781	B	0.06786	0.001	B	0.04013	0.001	T	0.55315	-0.8160	10	0.13470	T	0.59	.	5.2582	0.15558	0.0:0.2134:0.1396:0.647	.	489	Q96DX4	RSPRY_HUMAN	T	489	ENSP00000377942:M489T;ENSP00000443176:M489T	ENSP00000377942:M489T	M	+	2	0	RSPRY1	55822669	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.556000	0.45862	0.470000	0.27294	0.528000	0.53228	ATG		0.368	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		C	57265168	T	C	57265168	3	2	572	1	0	0	0	0	1	0	0	0	13719	1464	51	3	1512	3	RSPRY1	16	57265168	Missense_Mutation	SNP	T	TCGA-CZ-4856-01A-02D-1429-08	28355520	57265168	33089585	45	31166											
ZNF594	84622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5086703	5086703	+	Silent	SNP	G	G	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr17:5086703G>T	ENST00000399604.4	-	1	989	c.849C>A	c.(847-849)gtC>gtA	p.V283V	ZNF594_ENST00000575779.1_Silent_p.V283V			Q96JF6	ZN594_HUMAN	zinc finger protein 594	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V283V(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTGATGTGGGACAAGGTGTG	0.418																																																1	Substitution - coding silent(1)	kidney(1)											74	78	76					17																	5086703		2190	4292	6482	SO:0001819	synonymous_variant	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.849C>A	17.37:g.5086703G>T			Q6RFS0	Silent	SNP	ENST00000399604.4	37	CCDS42241.1																																																																																				0.418	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		T	5086703	G	T	5086703	2	4	572	1	0	0	0	0	0	0	0	1	18029	1161	41	4		4	ZNF594	17	5086703	Silent	SNP	G	TCGA-CZ-4856-01A-02D-1429-08		5086703	76108507	46	31167											
SLC13A5	284111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	6594203	6594203	+	Silent	SNP	G	G	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr17:6594203G>A	ENST00000433363.2	-	10	1565	c.1332C>T	c.(1330-1332)ccC>ccT	p.P444P	SLC13A5_ENST00000381074.4_Silent_p.P401P|SLC13A5_ENST00000573648.1_Silent_p.P444P|SLC13A5_ENST00000293800.6_Silent_p.P427P	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	444					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)	p.P444P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGGCTGCCGGGGGCACTGCGT	0.617																																																1	Substitution - coding silent(1)	kidney(1)											179	157	165					17																	6594203		2203	4300	6503	SO:0001819	synonymous_variant	284111			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1332C>T	17.37:g.6594203G>A			B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	CCDS11079.1																																																																																				0.617	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		A	6594203	G	A	6594203	2	1	572	1	0	0	0	0	0	0	0	1	14401	1219	43	2		2	SLC13A5	17	6594203	Silent	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	1507500	6594203	74601007	47	31168											
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu	37	17	11593688	11593688	+	Nonsense_Mutation	SNP	C	C	T	rs144649934	byFrequency	TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr17:11593688C>T	ENST00000262442.4	+	20	4617	c.4549C>T	c.(4549-4551)Cga>Tga	p.R1517*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R1517*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1517	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R1517*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAAGTGCAGCGAACATGGAC	0.483																																																1	Substitution - Nonsense(1)	kidney(1)						C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	81	80	80		4549	4.6	1	17	dbSNP_134	80	0,8600		0,0,4300	no	stop-gained	DNAH9	NM_001372.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1517/4487	11593688	1,13005	2203	4300	6503	SO:0001587	stop_gained	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4549C>T	17.37:g.11593688C>T	ENSP00000262442:p.Arg1517*		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	41	9.058837	0.99051	2.27E-4	0.0	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	5.57	4.6	0.57074	.	0.066681	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1697	0.37074	0.1453:0.7818:0.0:0.0728	.	.	.	.	X	1517;1517;99	.	ENSP00000262442:R1517X	R	+	1	2	DNAH9	11534413	1.000000	0.71417	0.954000	0.39281	0.193000	0.23685	0.824000	0.27379	1.366000	0.46076	0.655000	0.94253	CGA		0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		T	11593688	C	T	11593688	4	4	572	1	0	0	0	0	0	1	0	0	4610	760	27	1	4627	1	DNAH9	17	11593688	Nonsense_Mutation	SNP	C	TCGA-CZ-4856-01A-02D-1429-08	4999485	11593688	69601522	48	31169											
POLDIP2	26073	broad.mit.edu	37	17	26681591	26681591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr17:26681591delA	ENST00000540200.1	-	4	260	c.261delT	c.(259-261)tttfs	p.F87fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	88					mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTCGGTAGCCAAAAATGCTAT	0.542																																																0													38	38	38					17																	26681591		1917	4122	6039	SO:0001589	frameshift_variant	26073			AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.261delT	17.37:g.26681591delA	ENSP00000475924:p.Phe87fs		B2R846|Q96JE4	Frame_Shift_Del	DEL	ENST00000540200.1	37																																																																																					0.542	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015584		-	26681591	A	-	26681591	7	5	572	1	0	1	0	1	0	0	0	0	12196	127	5	0	878	0	POLDIP2	17	26681591	Frame_Shift_Del	DEL	A	TCGA-CZ-4856-01A-02D-1429-08	15087903	26681591	54513619	49	31170											
AMAC1	146861	broad.mit.edu;hgsc.bcm.edu	37	17	33521121	33521121	+	Missense_Mutation	SNP	G	G	A	rs149963193		TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr17:33521121G>A	ENST00000297307.5	-	1	291	c.206C>T	c.(205-207)tCg>tTg	p.S69L	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	69	EamA 1.					integral component of membrane (GO:0016021)		p.S69L(1)									CAGCTCCAGCGAGGGCAGGTT	0.637																																																1	Substitution - Missense(1)	kidney(1)						G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	124	125	124		206		0.4	17	dbSNP_134	124	0,8600		0,0,4300	no	missense	SLC35G3	NM_152462.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	69/339	33521121	1,13005	2203	4300	6503	SO:0001583	missense	0			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.206C>T	17.37:g.33521121G>A	ENSP00000297307:p.Ser69Leu		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548358	0.45383	2.27E-4	0.0	ENSG00000164729	ENST00000297307	T	0.52754	0.65	.	.	.	.	0.000000	0.38897	N	0.001522	T	0.49253	0.1546	L	0.34521	1.04	0.40176	D	0.977238	D	0.76494	0.999	D	0.80764	0.994	T	0.43410	-0.9393	9	0.46703	T	0.11	-2.9895	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	69	Q8N808	S35G3_HUMAN	L	69	ENSP00000297307:S69L	ENSP00000297307:S69L	S	-	2	0	SLC35G3	30545234	1.000000	0.71417	0.406000	0.26421	0.407000	0.30961	4.343000	0.59348	0.064000	0.16427	0.064000	0.15345	TCG		0.637	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		A	33521121	G	A	33521121	3	1	572	1	0	0	0	0	1	0	0	0	559	1059	37	1	814	1	AMAC1	17	33521121	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	6839530	33521121	47674089	50	31171											
SETBP1	26040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	42618593	42618593	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr18:42618593G>A	ENST00000282030.5	+	5	4440	c.4144G>A	c.(4144-4146)Gct>Act	p.A1382T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1382						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A1382T(1)|p.A1328T(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATCTCTCCTTGCTGCATCTGC	0.517									Schinzel-Giedion syndrome																																							2	Substitution - Missense(2)	kidney(2)											178	138	152					18																	42618593		2203	4300	6503	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4144G>A	18.37:g.42618593G>A	ENSP00000282030:p.Ala1382Thr		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	9.620	1.133560	0.21041	.	.	ENSG00000152217	ENST00000282030	T	0.69175	-0.38	5.84	5.84	0.93424	.	0.282780	0.35838	N	0.002951	T	0.48750	0.1517	N	0.24115	0.695	0.32840	D	0.505171	B	0.32829	0.386	B	0.31101	0.124	T	0.57441	-0.7811	10	0.21014	T	0.42	.	10.4694	0.44626	0.0:0.1803:0.693:0.1267	.	1382	Q9Y6X0	SETBP_HUMAN	T	1382	ENSP00000282030:A1382T	ENSP00000282030:A1382T	A	+	1	0	SETBP1	40872591	0.999000	0.42202	0.977000	0.42913	0.174000	0.22865	3.439000	0.52878	2.763000	0.94921	0.650000	0.86243	GCT		0.517	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		A	42618593	G	A	42618593	3	1	572	1	0	0	0	0	1	0	0	0	14135	1319	46	2	4351	2	SETBP1	18	42618593	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08		42618593	35458655	51	31172											
LYL1	4066	broad.mit.edu	37	19	13211728	13211728	+	Silent	SNP	C	C	T	rs200927941	byFrequency	TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr19:13211728C>T	ENST00000264824.4	-	2	618	c.258G>A	c.(256-258)ccG>ccA	p.P86P		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	86					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P86P(1)		cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			GTTGCAGCAGCGGGGGCCGCA	0.682			T	TRB@	T-ALL								C|||	2	0.000399361	0.0	0.0	5008	,	,		10709	0.0		0.001	False		,,,				2504	0.001						Dom	yes		19	19p13.2-p13.1	4066	lymphoblastic leukemia derived sequence 1		L	1	Substitution - coding silent(1)	kidney(1)						C		3,4259		0,3,2128	11	14	13		258	-9.3	0.1	19		13	6,8318		0,6,4156	no	coding-synonymous	LYL1	NM_005583.4		0,9,6284	TT,TC,CC		0.0721,0.0704,0.0715		86/281	13211728	9,12577	2131	4162	6293	SO:0001819	synonymous_variant	4066				CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"Basic helix-loop-helix proteins"	6734	protein-coding gene	gene with protein product		151440	"lymphoblastic leukemia derived sequence 1"			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.258G>A	19.37:g.13211728C>T			O76102	Silent	SNP	ENST00000264824.4	37	CCDS12292.1																																																																																				0.682	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452827.1	NM_005583		T	13211728	C	T	13211728	2	4	572	1	0	0	0	0	0	0	0	1	9108	755	27	1		1	LYL1	19	13211728	Silent	SNP	C	TCGA-CZ-4856-01A-02D-1429-08		13211728	45917255	52	31173											
CIC	23152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42797181	42797181	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr19:42797181G>C	ENST00000575354.2	+	15	3583	c.3543G>C	c.(3541-3543)aaG>aaC	p.K1181N	CIC_ENST00000160740.3_Missense_Mutation_p.K1179N|CIC_ENST00000572681.2_Missense_Mutation_p.K2088N	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1181	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1181N(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGAAAGTGAAGGCAGCCATCG	0.657			"Mis, F, S"		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Substitution - Missense(1)	kidney(1)											23	26	25					19																	42797181		2175	4240	6415	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3543G>C	19.37:g.42797181G>C	ENSP00000458663:p.Lys1181Asn		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633274	0.47049	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.06	4.02	0.46733	.	.	.	.	.	T	0.54078	0.1836	N	0.19112	0.55	0.40999	D	0.98491	D	0.71674	0.998	D	0.78314	0.991	T	0.58544	-0.7618	8	0.87932	D	0	-16.7766	8.1889	0.31357	0.1838:0.0:0.8162:0.0	.	1181	Q96RK0	CIC_HUMAN	N	1181	.	ENSP00000160740:K1181N	K	+	3	2	CIC	47489021	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.555000	0.53727	1.276000	0.44395	0.484000	0.47621	AAG		0.657	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			C	42797181	G	C	42797181	3	2	572	1	0	0	0	0	1	0	0	0	3426	991	35	4	3601	4	CIC	19	42797181	Missense_Mutation	SNP	G	TCGA-CZ-4856-01A-02D-1429-08	29585453	42797181	16331802	53	31174											
ZNF749	388567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57954668	57954668	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr19:57954668A>C	ENST00000334181.4	+	3	402	c.152A>C	c.(151-153)cAt>cCt	p.H51P	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H51P(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGTTGTTGGCATGGAGCCAAG	0.507																																																1	Substitution - Missense(1)	kidney(1)											68	66	67					19																	57954668		2203	4300	6503	SO:0001583	missense	388567			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.152A>C	19.37:g.57954668A>C	ENSP00000333980:p.His51Pro			Missense_Mutation	SNP	ENST00000334181.4	37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513011	0.27123	.	.	ENSG00000186230	ENST00000334181	T	0.00768	5.72	2.07	-0.261	0.12963	Krueppel-associated box (3);	.	.	.	.	T	0.00724	0.0024	N	0.16166	0.38	0.09310	N	1	D	0.61080	0.989	P	0.50708	0.648	T	0.52019	-0.8631	9	0.35671	T	0.21	.	2.102	0.03682	0.4441:0.0:0.3118:0.2441	.	51	O43361	ZN749_HUMAN	P	51	ENSP00000333980:H51P	ENSP00000333980:H51P	H	+	2	0	ZNF749	62646480	0.000000	0.05858	0.006000	0.13384	0.311000	0.27955	-0.501000	0.06398	-0.150000	0.11195	0.260000	0.18958	CAT		0.507	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		C	57954668	A	C	57954668	3	2	572	1	0	0	0	0	1	0	0	0	18136	217	8	5	162	5	ZNF749	19	57954668	Missense_Mutation	SNP	A	TCGA-CZ-4856-01A-02D-1429-08	15157487	57954668	1174315	54	31175											
PTPRT	11122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	40944543	40944544	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr20:40944543_40944544CC>AA	ENST00000373187.1	-	12	1957_1958	c.1958_1959GG>TT	c.(1957-1959)cGG>cTT	p.R653L	PTPRT_ENST00000373198.4_Missense_Mutation_p.R653L|PTPRT_ENST00000356100.2_Missense_Mutation_p.R653L|PTPRT_ENST00000373193.3_Missense_Mutation_p.R653L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R653L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R653L|PTPRT_ENST00000373201.1_Missense_Mutation_p.R653L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	653	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R653L(2)|p.R653>?(1)|p.R653Q(1)|p.R653R(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGAGGCATTCCGATAGCTCAC	0.515																																																5	Substitution - Missense(3)|Substitution - coding silent(1)|Complex(1)	kidney(3)|lung(1)|skin(1)																																								SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1958_1959delinsAA	20.37:g.40944543_40944544delinsAA	ENSP00000362283:p.Arg653Leu		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent|Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																				0.515	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			AA	40944544	CC	AA	40944543	3	1	572	1	0	0	0	0	1	0	0	0	12818	842	30	4	2507	4	PTPRT	20	40944543	Missense_Mutation	DNP	CC	TCGA-CZ-4856-01A-02D-1429-08		40944543	22080977	55	31176											
GGT5	2687	broad.mit.edu	37	22	24621029	24621029	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chr22:24621029T>C	ENST00000327365.4	-	11	1965	c.1549A>G	c.(1549-1551)Att>Gtt	p.I517V	GGT5_ENST00000263112.7_Missense_Mutation_p.I485V|GGT5_ENST00000418439.2_Missense_Mutation_p.I441V|GGT5_ENST00000398292.3_Missense_Mutation_p.I518V	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	517					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.I517V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGGGCTGCAATGGCCGCTCTC	0.602																																																1	Substitution - Missense(1)	kidney(1)											35	29	31					22																	24621029		2203	4299	6502	SO:0001583	missense	2687			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1549A>G	22.37:g.24621029T>C	ENSP00000330080:p.Ile517Val		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	T	8.665	0.901573	0.17760	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	4.54	1.17	0.20885	.	0.104163	0.64402	N	0.000004	T	0.10208	0.0250	L	0.35249	1.045	0.43622	D	0.996009	D;D;D;P;D	0.89917	1.0;0.97;0.976;0.681;0.976	D;P;D;P;D	0.87578	0.998;0.873;0.923;0.604;0.923	T	0.38908	-0.9639	10	0.10636	T	0.68	-9.8612	7.0533	0.25085	0.0:0.2894:0.0:0.7106	.	441;485;517;518;517	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	V	517;485;432;518;441	ENSP00000330080:I517V;ENSP00000263112:I485V;ENSP00000381340:I518V;ENSP00000392146:I441V	ENSP00000263112:I485V	I	-	1	0	GGT5	22951029	1.000000	0.71417	0.441000	0.26858	0.027000	0.11550	2.184000	0.42575	0.021000	0.15133	-1.108000	0.02087	ATT		0.602	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		C	24621029	T	C	24621029	3	2	572	1	0	0	0	0	1	0	0	0	6364	1464	51	3	219	3	GGT5	22	24621029	Missense_Mutation	SNP	T	TCGA-CZ-4856-01A-02D-1429-08		24621029	26683537	56	31177											
ARMCX5	64860	broad.mit.edu	37	X	101858509	101858509	+	Silent	SNP	A	A	T			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chrX:101858509A>T	ENST00000604957.1	+	1	4062	c.1440A>T	c.(1438-1440)gcA>gcT	p.A480A	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Silent_p.A480A|ARMCX5_ENST00000536530.1_Silent_p.A480A|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Silent_p.A480A|ARMCX5_ENST00000372742.1_Silent_p.A480A|ARMCX5_ENST00000246174.2_Silent_p.A480A	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	480								p.A480A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CATTGGTTGCACCCTTTAACA	0.303																																																1	Substitution - coding silent(1)	kidney(1)											56	53	54					X																	101858509		2203	4298	6501	SO:0001819	synonymous_variant	64860				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1440A>T	X.37:g.101858509A>T			B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Silent	SNP	ENST00000604957.1	37	CCDS14500.1																																																																																				0.303	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		T	101858509	A	T	101858509	2	4	572	1	0	0	0	0	0	0	0	1	962	146	6	5		5	ARMCX5	23	101858509	Silent	SNP	A	TCGA-CZ-4856-01A-02D-1429-08		101858509	53412051	57	31178											
GPRASP2	114928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101971084	101971084	+	Silent	SNP	C	C	A			TCGA-CZ-4856-01A-02D-1429-08	TCGA-CZ-4856-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	85e26450-4cb1-4a91-ad86-a6d44890ee97	10b5b613-7abd-42dd-bb9d-a166c34e4222	g.chrX:101971084C>A	ENST00000535209.1	+	4	2118	c.1287C>A	c.(1285-1287)tcC>tcA	p.S429S	GPRASP2_ENST00000332262.5_Silent_p.S429S|GPRASP2_ENST00000543253.1_Silent_p.S429S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	429						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.S429S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGAAAAGTCCAGTTTGGGGG	0.577																																																1	Substitution - coding silent(1)	kidney(1)											77	77	77					X																	101971084		2203	4300	6503	SO:0001819	synonymous_variant	114928			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1287C>A	X.37:g.101971084C>A			D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	CCDS14501.1																																																																																				0.577	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		A	101971084	C	A	101971084	2	1	572	1	0	0	0	0	0	0	0	1	6725	581	21	4		4	GPRASP2	23	101971084	Silent	SNP	C	TCGA-CZ-4856-01A-02D-1429-08	112575	101971084	53299476	58	31179											
UTS2	10911	hgsc.bcm.edu	37	1	7913400	7913400	+	5'Flank	SNP	T	T	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:7913400T>A	ENST00000361696.5	-	0	0				UTS2_ENST00000377516.2_5'UTR|UTS2_ENST00000054668.5_Missense_Mutation_p.Y31F	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2						muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AAGGCTTGGATATGAGTTGAA	0.363																																																0													132	127	129					1																	7913400		2203	4300	6503	SO:0001631	upstream_gene_variant	10911			AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"Endogenous ligands"	12636	protein-coding gene	gene with protein product	"prepro U-II"	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218		1.37:g.7913400T>A	Exception_encountered		Q5H8X7|Q6UXF6|Q9UKP7	Missense_Mutation	SNP	ENST00000361696.5	37	CCDS91.1	.	.	.	.	.	.	.	.	.	.	T	0.614	-0.823671	0.02755	.	.	ENSG00000049247	ENST00000054668	T	0.29917	1.55	4.4	1.2	0.21068	.	.	.	.	.	T	0.13500	0.0327	.	.	.	0.09310	N	1	B	0.33135	0.399	B	0.29353	0.101	T	0.21314	-1.0249	8	0.18276	T	0.48	.	3.1214	0.06392	0.1895:0.4821:0.0:0.3284	.	31	O95399-2	.	F	31	ENSP00000054668:Y31F	ENSP00000054668:Y31F	Y	-	2	0	UTS2	7835987	0.369000	0.25039	0.002000	0.10522	0.005000	0.04900	1.128000	0.31369	0.317000	0.23160	0.533000	0.62120	TAT		0.363	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003612.1	NM_006786		A	7913400	T	A	7913400	1	1	573	0	1	0	0	0	0	0	0	0	17109	1406	49	5		5	UTS2	1	7913400	5'Flank	SNP	T	TCGA-CZ-4857-01A-01D-1373-10		7913400	241337221	1	31180											
MTOR	2475	hgsc.bcm.edu;ucsc.edu	37	1	11189847	11189847	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:11189847A>G	ENST00000361445.4	-	40	5738	c.5662T>C	c.(5662-5664)Ttc>Ctc	p.F1888L	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Missense_Mutation_p.F93L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1888	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GAACGGAAGAAGCCCTGGACG	0.522																																																0													177	141	153					1																	11189847		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5662T>C	1.37:g.11189847A>G	ENSP00000354558:p.Phe1888Leu		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	36	5.849474	0.97023	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.75477	-0.94;-0.94	5.79	5.79	0.91817	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.90380	0.6989	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93054	0.6468	10	0.72032	D	0.01	-25.9408	16.1354	0.81481	1.0:0.0:0.0:0.0	.	1888	P42345	MTOR_HUMAN	L	1888;93	ENSP00000354558:F1888L;ENSP00000366034:F93L	ENSP00000354558:F1888L	F	-	1	0	MTOR	11112434	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.920000	0.92779	2.207000	0.71202	0.533000	0.62120	TTC		0.522	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		G	11189847	A	G	11189847	3	3	573	1	0	0	0	0	1	0	0	0	9956	72	3	3	2063	3	MTOR	1	11189847	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	3276447	11189847	238060774	2	31181	228	2									
MTOR	2475	hgsc.bcm.edu;ucsc.edu	37	1	11189851	11189851	+	Silent	SNP	C	C	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:11189851C>T	ENST00000361445.4	-	40	5734	c.5658G>A	c.(5656-5658)caG>caA	p.Q1886Q	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Silent_p.Q91Q	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1886	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGAAGAAGCCCTGGACGGCAG	0.507																																																0													173	138	150					1																	11189851		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5658G>A	1.37:g.11189851C>T			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	CCDS127.1																																																																																				0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		T	11189851	C	T	11189851	2	4	573	1	0	0	0	0	0	0	0	1	9956	680	24	2		2	MTOR	1	11189851	Silent	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	4	11189851	238060770	3	31182	228	2									
ARID1A	8289	hgsc.bcm.edu;ucsc.edu	37	1	27106545	27106545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:27106545C>A	ENST00000324856.7	+	20	6527	c.6156C>A	c.(6154-6156)tgC>tgA	p.C2052*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.C380*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.C1669*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.C1835*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2052					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGTGGGACTGCTTGGAGATGC	0.552			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													154	153	153					1																	27106545		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6156C>A	1.37:g.27106545C>A	ENSP00000320485:p.Cys2052*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.829171|9.829171	0.99273|0.99273	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	5.0|5.0	4.09|4.09	0.47781|0.47781	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.62889	.|0.2465	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61540	.|-0.7042	.|4	0.02654|.	T|.	1|.	-8.765|-8.765	11.7695|11.7695	0.51949|0.51949	0.0:0.8526:0.0:0.1474|0.0:0.8526:0.0:0.1474	.|.	.|.	.|.	.|.	X|I	2052;1835;1669;380|949	.|.	ENSP00000320485:C2052X|.	C|L	+|+	3|1	2|0	ARID1A|ARID1A	26979132|26979132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.781000|1.781000	0.38644|0.38644	1.473000|1.473000	0.48159|0.48159	0.591000|0.591000	0.81541|0.81541	TGC|CTT		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		A	27106545	C	A	27106545	4	1	573	1	0	0	0	0	0	1	0	0	913	805	28	4	6234	4	ARID1A	1	27106545	Nonsense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	15916694	27106545	222144076	4	31183											
LEPRE1	64175	hgsc.bcm.edu;ucsc.edu	37	1	43228105	43228105	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:43228105G>C	ENST00000296388.5	-	2	558	c.507C>G	c.(505-507)ttC>ttG	p.F169L	LEPRE1_ENST00000397054.3_Missense_Mutation_p.F169L|LEPRE1_ENST00000236040.4_Missense_Mutation_p.F169L			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	169					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCCCACGAAGAAGGTGTGTG	0.463																																																0													147	140	142					1																	43228105		2203	4300	6503	SO:0001583	missense	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.507C>G	1.37:g.43228105G>C	ENSP00000296388:p.Phe169Leu		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	CCDS472.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412726	0.83340	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.42900	0.96;0.96;0.96	5.73	4.82	0.62117	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.83118	2.625	0.58432	D	0.999993	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;D;D	0.77557	0.99;0.99;0.989;0.989	T	0.67852	-0.5563	10	0.87932	D	0	-32.4721	8.9065	0.35526	0.1682:0.0:0.8318:0.0	.	169;169;34;169	Q32P28-2;Q32P28-3;B4DNM8;Q32P28	.;.;.;P3H1_HUMAN	L	169;169;169;34	ENSP00000380245:F169L;ENSP00000236040:F169L;ENSP00000296388:F169L	ENSP00000236040:F169L	F	-	3	2	LEPRE1	43000692	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.173000	0.50839	1.426000	0.47256	0.563000	0.77884	TTC		0.463	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		C	43228105	G	C	43228105	3	2	573	1	0	0	0	0	1	0	0	0	8731	933	33	4	1778	4	LEPRE1	1	43228105	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	16121560	43228105	206022516	5	31184											
ALG14	199857	hgsc.bcm.edu	37	1	95538433	95538433	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:95538433C>G	ENST00000370205.5	-	1	68	c.22G>C	c.(22-24)Gct>Cct	p.A8P	ALG14_ENST00000495856.1_5'Flank	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	8					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		GCGGCCGCAGCTAGAACGAGA	0.577																																																0													80	76	77					1																	95538433		2203	4300	6503	SO:0001583	missense	199857				CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"asparagine-linked glycosylation 14 homolog (yeast)", "asparagine-linked glycosylation 14 homolog (S. cerevisiae)"			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.22G>C	1.37:g.95538433C>G	ENSP00000359224:p.Ala8Pro		A8K030	Missense_Mutation	SNP	ENST00000370205.5	37	CCDS752.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555605	0.45487	.	.	ENSG00000172339	ENST00000370205	T	0.48201	0.82	5.21	3.26	0.37387	.	1.033710	0.07651	N	0.931930	T	0.15739	0.0379	N	0.08118	0	0.09310	N	0.999993	D	0.55385	0.971	P	0.47470	0.548	T	0.03184	-1.1063	10	0.23891	T	0.37	-13.6845	8.2916	0.31960	0.1558:0.7598:0.0:0.0843	.	8	Q96F25	ALG14_HUMAN	P	8	ENSP00000359224:A8P	ENSP00000359224:A8P	A	-	1	0	ALG14	95311021	0.001000	0.12720	0.337000	0.25536	0.034000	0.12701	0.905000	0.28504	1.384000	0.46424	0.591000	0.81541	GCT		0.577	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		G	95538433	C	G	95538433	3	3	573	1	0	0	0	0	1	0	0	0	516	797	28	4	644	4	ALG14	1	95538433	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	52310328	95538433	153712188	6	31185											
CD101	9398	hgsc.bcm.edu	37	1	117560837	117560837	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:117560837T>C	ENST00000256652.4	+	6	1730	c.1672T>C	c.(1672-1674)Ttt>Ctt	p.F558L	CD101_ENST00000369470.1_Missense_Mutation_p.F558L	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	558	Ig-like C2-type 5.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACCAACACCTTTGACCTGTC	0.468																																																0													113	86	95					1																	117560837		2203	4300	6503	SO:0001583	missense	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1672T>C	1.37:g.117560837T>C	ENSP00000256652:p.Phe558Leu		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.784582	0.31593	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	D;D	0.93659	-3.26;-3.26	5.33	1.38	0.22167	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.476428	0.19507	N	0.112609	D	0.85860	0.5795	M	0.77616	2.38	0.30819	N	0.738017	B	0.21071	0.051	B	0.19946	0.027	T	0.78884	-0.2028	10	0.56958	D	0.05	-8.0019	6.1484	0.20298	0.1538:0.0:0.3198:0.5264	.	558	Q93033	IGSF2_HUMAN	L	558	ENSP00000256652:F558L;ENSP00000358482:F558L	ENSP00000256652:F558L	F	+	1	0	CD101	117362360	0.633000	0.27181	0.954000	0.39281	0.183000	0.23260	0.902000	0.28459	0.420000	0.25954	0.533000	0.62120	TTT		0.468	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		C	117560837	T	C	117560837	3	2	573	1	0	0	0	0	1	0	0	0	2964	1609	56	3	1694	3	CD101	1	117560837	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	22022404	117560837	131689784	7	31186											
NOTCH2	4853	hgsc.bcm.edu;ucsc.edu	37	1	120478185	120478185	+	Missense_Mutation	SNP	C	C	G	rs185917176		TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:120478185C>G	ENST00000256646.2	-	22	3784	c.3565G>C	c.(3565-3567)Gat>Cat	p.D1189H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1189	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGCACTCATCCACTTCATAC	0.483			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													146	129	135					1																	120478185		2203	4300	6503	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3565G>C	1.37:g.120478185C>G	ENSP00000256646:p.Asp1189His		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933056	0.73442	.	.	ENSG00000134250	ENST00000256646	T	0.61158	0.13	5.78	5.78	0.91487	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.39020	U	0.001491	T	0.81312	0.4796	M	0.93197	3.39	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.936	D	0.84701	0.0728	10	0.72032	D	0.01	.	19.3546	0.94407	0.0:1.0:0.0:0.0	.	1189;1189	Q6IQ50;Q04721	.;NOTC2_HUMAN	H	1189	ENSP00000256646:D1189H	ENSP00000256646:D1189H	D	-	1	0	NOTCH2	120279708	0.935000	0.31712	0.997000	0.53966	0.981000	0.71138	1.775000	0.38584	2.894000	0.99253	0.655000	0.94253	GAT		0.483	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		G	120478185	C	G	120478185	3	3	573	1	0	0	0	0	1	0	0	0	10550	855	30	4	3902	4	NOTCH2	1	120478185	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	2917348	120478185	128772436	8	31187											
NES	10763	hgsc.bcm.edu	37	1	156642149	156642149	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:156642149C>G	ENST00000368223.3	-	4	1963	c.1831G>C	c.(1831-1833)Gta>Cta	p.V611L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	611	Tail.			ELLKDVEVVRPLEKEAVG -> RAIKGCGGSETSRKRGCR (in Ref. 1; CAA46780). {ECO:0000305}.	brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTTGGCCTACAGCCTCTTTT	0.378																																																0													92	92	92					1																	156642149		2203	4300	6503	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1831G>C	1.37:g.156642149C>G	ENSP00000357206:p.Val611Leu		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	4.072	0.011246	0.07912	.	.	ENSG00000132688	ENST00000368223	D	0.85773	-2.03	5.22	2.22	0.28083	.	1.071090	0.07516	N	0.909773	T	0.41719	0.1171	N	0.03177	-0.4	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37079	-0.9721	10	0.08599	T	0.76	.	7.9977	0.30277	0.0:0.3037:0.4085:0.2879	.	611	P48681	NEST_HUMAN	L	611	ENSP00000357206:V611L	ENSP00000357206:V611L	V	-	1	0	NES	154908773	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.142000	0.31540	0.182000	0.20032	-0.499000	0.04595	GTA		0.378	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		G	156642149	C	G	156642149	3	3	573	1	0	0	0	0	1	0	0	0	10339	478	17	4	3038	4	NES	1	156642149	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	36163964	156642149	92608472	9	31188											
KIAA1614	57710	hgsc.bcm.edu	37	1	180910302	180910302	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:180910302G>A	ENST00000367588.4	+	7	3095	c.3040G>A	c.(3040-3042)Ggc>Agc	p.G1014S	RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_Missense_Mutation_p.G635S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1014	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTCAGCCCTGGGCCAGAGTTC	0.652																																																0													34	42	39					1																	180910302		1931	4124	6055	SO:0001583	missense	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3040G>A	1.37:g.180910302G>A	ENSP00000356560:p.Gly1014Ser		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683263	0.29872	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.28666	2.14;1.6	5.21	2.24	0.28232	.	0.311170	0.30244	N	0.010077	T	0.15739	0.0379	L	0.29908	0.895	0.38720	D	0.953411	B;B	0.32693	0.011;0.38	B;B	0.26517	0.025;0.07	T	0.20974	-1.0259	9	0.19590	T	0.45	-19.4224	5.1366	0.14937	0.2479:0.0:0.6067:0.1453	.	635;1014	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	S	1014;635	ENSP00000356560:G1014S;ENSP00000356559:G635S	ENSP00000356559:G635S	G	+	1	0	KIAA1614	179176925	1.000000	0.71417	0.173000	0.22940	0.206000	0.24218	2.173000	0.42472	0.175000	0.19841	-0.254000	0.11334	GGC		0.652	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		A	180910302	G	A	180910302	3	1	573	1	0	0	0	0	1	0	0	0	8250	1232	43	2	3066	2	KIAA1614	1	180910302	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	24268153	180910302	68340319	10	31189											
PTGS2	5743	hgsc.bcm.edu;ucsc.edu	37	1	186646828	186646828	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:186646828T>C	ENST00000367468.5	-	5	728	c.592A>G	c.(592-594)Aca>Gca	p.T198A	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	198					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTATGATCTGTCTTGAAAAAC	0.423																																																0													115	119	118					1																	186646828		2203	4300	6503	SO:0001583	missense	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.592A>G	1.37:g.186646828T>C	ENSP00000356438:p.Thr198Ala		A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.979369	0.53827	.	.	ENSG00000073756	ENST00000367468	T	0.71579	-0.58	5.8	2.08	0.27032	.	0.256756	0.45606	D	0.000347	D	0.82655	0.5084	H	0.94847	3.59	0.49051	D	0.999744	P;P	0.40619	0.587;0.724	B;P	0.49332	0.365;0.607	D	0.83509	0.0079	10	0.87932	D	0	-12.1267	11.1306	0.48345	0.345:0.0:0.0:0.655	.	198;198	Q8IZA9;P35354	.;PGH2_HUMAN	A	198	ENSP00000356438:T198A	ENSP00000356438:T198A	T	-	1	0	PTGS2	184913451	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.255000	0.32909	0.085000	0.17107	-0.388000	0.06559	ACA		0.423	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		C	186646828	T	C	186646828	3	2	573	1	0	0	0	0	1	0	0	0	12762	1667	58	3	1246	3	PTGS2	1	186646828	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	5736526	186646828	62603793	11	31190											
PIK3C2B	5287	hgsc.bcm.edu	37	1	204397328	204397328	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:204397328G>C	ENST00000367187.3	-	31	4975	c.4419C>G	c.(4417-4419)ttC>ttG	p.F1473L	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.F1445L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1473	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTGGGTGGAAGAAGGTGTACA	0.498																																																0													72	63	66					1																	204397328		2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4419C>G	1.37:g.204397328G>C	ENSP00000356155:p.Phe1473Leu		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916637	0.73098	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.79554	-1.28;-1.28	5.24	1.17	0.20885	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.88991	0.6588	M	0.88512	2.96	0.40370	D	0.979334	D;D	0.76494	0.994;0.999	D;D	0.79108	0.976;0.992	D	0.87556	0.2468	10	0.87932	D	0	.	9.1659	0.37052	0.4717:0.0:0.5283:0.0	.	1445;1473	F5GWN5;O00750	.;P3C2B_HUMAN	L	1473;1445	ENSP00000356155:F1473L;ENSP00000400561:F1445L	ENSP00000356155:F1473L	F	-	3	2	PIK3C2B	202663951	1.000000	0.71417	0.997000	0.53966	0.898000	0.52572	0.817000	0.27281	-0.038000	0.13624	0.591000	0.81541	TTC		0.498	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		C	204397328	G	C	204397328	3	2	573	1	0	0	0	0	1	0	0	0	11912	933	33	4	501	4	PIK3C2B	1	204397328	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	17750500	204397328	44853293	12	31191											
PSEN2	5664	hgsc.bcm.edu;ucsc.edu	37	1	227076606	227076606	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr1:227076606G>A	ENST00000366783.3	+	8	1079	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	PSEN2_ENST00000366782.1_Missense_Mutation_p.G248S|PSEN2_ENST00000391872.2_Missense_Mutation_p.G248S|PSEN2_ENST00000472139.2_Missense_Mutation_p.G71S|PSEN2_ENST00000422240.2_Missense_Mutation_p.G215S|PSEN2_ENST00000340188.4_Missense_Mutation_p.G215S	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	215					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CGGGGCAGTGGGCATGGTGTG	0.582																																																0													140	122	128					1																	227076606		2203	4300	6503	SO:0001583	missense	5664			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"Alzheimer disease 4"	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.643G>A	1.37:g.227076606G>A	ENSP00000355747:p.Gly215Ser		A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441558	0.96187	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D;D	0.99903	-7.67;-7.67;-7.67;-7.67;-7.67;-7.67;-7.67	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.98	D	0.96041	0.9024	10	0.87932	D	0	.	18.7799	0.91928	0.0:0.0:1.0:0.0	.	215;215	A8K8D4;P49810	.;PSN2_HUMAN	S	215;215;215;42;248;248;71	ENSP00000355747:G215S;ENSP00000339860:G215S;ENSP00000403737:G215S;ENSP00000427912:G42S;ENSP00000355746:G248S;ENSP00000375745:G248S;ENSP00000427806:G71S	ENSP00000339860:G215S	G	+	1	0	PSEN2	225143229	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.790000	0.99075	2.426000	0.82243	0.561000	0.74099	GGC		0.582	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		A	227076606	G	A	227076606	3	1	573	1	0	0	0	0	1	0	0	0	12656	1232	43	2	661	2	PSEN2	1	227076606	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	22679278	227076606	22174015	13	31192											
EPC2	26122	hgsc.bcm.edu;ucsc.edu	37	2	149519487	149519487	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr2:149519487T>A	ENST00000258484.6	+	5	837	c.803T>A	c.(802-804)gTt>gAt	p.V268D		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	268					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ACCTTAGAAGTTGTGGAGAAA	0.348																																																0													77	72	74					2																	149519487		1836	4076	5912	SO:0001583	missense	26122			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.803T>A	2.37:g.149519487T>A	ENSP00000258484:p.Val268Asp		B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697381	0.88830	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.78898	0.4356	M	0.81802	2.56	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.82368	-0.0492	9	0.87932	D	0	-3.4451	15.772	0.78176	0.0:0.0:0.0:1.0	.	268	Q52LR7	EPC2_HUMAN	D	268	.	ENSP00000258484:V268D	V	+	2	0	EPC2	149235957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.133000	0.65898	0.477000	0.44152	GTT		0.348	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		A	149519487	T	A	149519487	3	1	573	1	0	0	0	0	1	0	0	0	5163	1725	60	5	821	5	EPC2	2	149519487	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10		149519487	93679886	14	31193											
DPP4	1803	hgsc.bcm.edu;ucsc.edu	37	2	162865775	162865775	+	Silent	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr2:162865775G>A	ENST00000360534.3	-	21	2423	c.1863C>T	c.(1861-1863)aaC>aaT	p.N621N	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	621					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CAATTCGTTTGTTGTCCACAA	0.363																																																0													152	142	146					2																	162865775		2203	4300	6503	SO:0001819	synonymous_variant	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1863C>T	2.37:g.162865775G>A			Q53TN1	Silent	SNP	ENST00000360534.3	37	CCDS2216.1																																																																																				0.363	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			A	162865775	G	A	162865775	2	1	573	1	0	0	0	0	0	0	0	1	4731	1368	48	2		2	DPP4	2	162865775	Silent	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	13346288	162865775	80333598	15	31194											
CPS1	1373	hgsc.bcm.edu;ucsc.edu	37	2	211541841	211541841	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr2:211541841C>G	ENST00000233072.5	+	37	4581	c.4385C>G	c.(4384-4386)cCt>cGt	p.P1462R	CPS1_ENST00000451903.2_Missense_Mutation_p.P1011R|CPS1_ENST00000430249.2_Missense_Mutation_p.P1468R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1462			P -> R (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AGTGGAATCCCTCTCCTCACT	0.403																																																0													197	188	191					2																	211541841		2203	4300	6503	SO:0001583	missense	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4385C>G	2.37:g.211541841C>G	ENSP00000233072:p.Pro1462Arg		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022782	0.75275	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.84873	-1.91;-1.91;-1.91	5.66	5.66	0.87406	Methylglyoxal synthase-like domain (4);	0.160065	0.56097	D	0.000033	D	0.94499	0.8229	H	0.95574	3.69	0.35128	D	0.767687	P;P	0.39862	0.692;0.692	P;P	0.55011	0.766;0.766	D	0.97647	1.0152	10	0.87932	D	0	-1.827	19.752	0.96271	0.0:1.0:0.0:0.0	.	1472;1462	Q59HF8;P31327	.;CPSM_HUMAN	R	1468;1470;1462;1011	ENSP00000402608:P1468R;ENSP00000233072:P1462R;ENSP00000406136:P1011R	ENSP00000233072:P1462R	P	+	2	0	CPS1	211250086	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.011000	0.76359	2.668000	0.90789	0.462000	0.41574	CCT		0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			G	211541841	C	G	211541841	3	3	573	1	0	0	0	0	1	0	0	0	3825	681	24	4	4553	4	CPS1	2	211541841	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	48676066	211541841	31657532	16	31195											
SERPINE2	5270	hgsc.bcm.edu;ucsc.edu	37	2	224862980	224862980	+	Silent	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr2:224862980G>A	ENST00000258405.4	-	3	581	c.339C>T	c.(337-339)gcC>gcT	p.A113A	SERPINE2_ENST00000409304.1_Silent_p.A113A|SERPINE2_ENST00000409840.3_Silent_p.A113A|SERPINE2_ENST00000447280.2_Silent_p.A125A	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	113					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TAACAAACACGGCGTTAGCCA	0.398																																																0													114	111	112					2																	224862980		2203	4300	6503	SO:0001819	synonymous_variant	5270			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.339C>T	2.37:g.224862980G>A			B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	CCDS2460.1																																																																																				0.398	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		A	224862980	G	A	224862980	2	1	573	1	0	0	0	0	0	0	0	1	14118	1103	39	1		1	SERPINE2	2	224862980	Silent	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	13321139	224862980	18336393	17	31196											
HDLBP	3069	hgsc.bcm.edu;ucsc.edu	37	2	242179477	242179477	+	Missense_Mutation	SNP	C	C	T	rs143103039		TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr2:242179477C>T	ENST00000391975.1	-	18	2457	c.2230G>A	c.(2230-2232)Ggc>Agc	p.G744S	HDLBP_ENST00000427183.2_Missense_Mutation_p.G711S|HDLBP_ENST00000391976.2_Missense_Mutation_p.G744S|HDLBP_ENST00000310931.4_Missense_Mutation_p.G744S	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	744	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCCCCTTGCCGATGAGGAAT	0.547																																																0								C	SER/GLY,SER/GLY	0,4406		0,0,2203	167	157	160		2230,2230	1.7	0	2	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HDLBP	NM_005336.4,NM_203346.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	744/1269,744/1269	242179477	1,13005	2203	4300	6503	SO:0001583	missense	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2230G>A	2.37:g.242179477C>T	ENSP00000375836:p.Gly744Ser		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.543717|4.543717	0.86022|0.86022	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931|ENST00000373292	D;D;D;D;T|.	0.88586|.	-2.4;-2.4;-2.4;-2.4;1.44|.	5.59|5.59	1.71|1.71	0.24356|0.24356	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.094339|.	0.64402|.	N|.	0.000001|.	T|T	0.76659|0.76659	0.4018|0.4018	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.75833|0.75833	-0.3178|-0.3178	10|5	0.87932|.	D|.	0|.	-32.2504|-32.2504	9.9141|9.9141	0.41423|0.41423	0.0:0.7176:0.0:0.2824|0.0:0.7176:0.0:0.2824	.|.	711;744|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	S|Q	744;744;744;711;253|552	ENSP00000375836:G744S;ENSP00000375837:G744S;ENSP00000312042:G744S;ENSP00000399139:G711S;ENSP00000388876:G253S|.	ENSP00000312042:G744S|.	G|R	-|-	1|2	0|0	HDLBP|HDLBP	241828150|241828150	1.000000|1.000000	0.71417|0.71417	0.029000|0.029000	0.17559|0.17559	0.866000|0.866000	0.49608|0.49608	7.736000|7.736000	0.84948|0.84948	0.036000|0.036000	0.15547|0.15547	0.650000|0.650000	0.86243|0.86243	GGC|CGG		0.547	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		T	242179477	C	T	242179477	3	4	573	1	0	0	0	0	1	0	0	0	7027	652	23	1	1620	1	HDLBP	2	242179477	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	17316497	242179477	1019896	18	31197											
KIF15	56992	hgsc.bcm.edu;ucsc.edu	37	3	44816879	44816879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr3:44816879G>T	ENST00000326047.4	+	3	345	c.196G>T	c.(196-198)Gag>Tag	p.E66*		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	66	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTCCAACCCTGAGCCCAAGAC	0.443																																																0													93	79	84					3																	44816879		2203	4300	6503	SO:0001587	stop_gained	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.196G>T	3.37:g.44816879G>T	ENSP00000324020:p.Glu66*		Q17RV9|Q69YL6|Q96JX7|Q9H280	Nonsense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	38	6.840705	0.97877	.	.	ENSG00000163808	ENST00000326047;ENST00000396031	.	.	.	5.63	5.63	0.86233	.	0.123302	0.35903	N	0.002915	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	.	.	.	X	66;65	.	ENSP00000324020:E66X	E	+	1	0	KIF15	44791883	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.632000	0.98428	2.805000	0.96524	0.655000	0.94253	GAG		0.443	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			T	44816879	G	T	44816879	4	4	573	1	0	0	0	0	0	1	0	0	8279	1291	45	4	206	4	KIF15	3	44816879	Nonsense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10		44816879	153205551	19	31198											
PLXNB1	5364	hgsc.bcm.edu	37	3	48460339	48460339	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr3:48460339C>T	ENST00000358536.4	-	13	3211	c.2942G>A	c.(2941-2943)tGc>tAc	p.C981Y	PLXNB1_ENST00000358459.4_Missense_Mutation_p.C798Y|PLXNB1_ENST00000456774.1_Missense_Mutation_p.C798Y|PLXNB1_ENST00000296440.6_Missense_Mutation_p.C981Y|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	981					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCTGCTGGCAGGTGACATG	0.632																																																0													74	65	68					3																	48460339		2203	4300	6503	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2942G>A	3.37:g.48460339C>T	ENSP00000351338:p.Cys981Tyr		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692316	0.68271	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.05925	3.37;3.46;3.37;3.46	4.84	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	L	0.53671	1.685	0.80722	D	1	P;D	0.71674	0.814;0.998	B;D	0.72625	0.429;0.978	T	0.00367	-1.1785	10	0.87932	D	0	.	13.6344	0.62215	0.1555:0.8445:0.0:0.0	.	981;798	O43157;O43157-2	PLXB1_HUMAN;.	Y	981;798;981;798	ENSP00000296440:C981Y;ENSP00000351242:C798Y;ENSP00000351338:C981Y;ENSP00000414199:C798Y	ENSP00000296440:C981Y	C	-	2	0	PLXNB1	48435343	1.000000	0.71417	0.787000	0.31911	0.921000	0.55340	5.213000	0.65230	1.027000	0.39758	0.561000	0.74099	TGC		0.632	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		T	48460339	C	T	48460339	3	4	573	1	0	0	0	0	1	0	0	0	12125	710	25	2	3569	2	PLXNB1	3	48460339	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	3643460	48460339	149562091	20	31199											
TCTA	6988	hgsc.bcm.edu;ucsc.edu	37	3	49450062	49450062	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr3:49450062A>C	ENST00000273590.3	+	1	424	c.203A>C	c.(202-204)tAt>tCt	p.Y68S	RHOA_ENST00000454011.2_5'Flank|RHOA_ENST00000265538.3_Intron|RHOA_ENST00000422781.1_5'Flank|RHOA_ENST00000418115.1_5'Flank|TCTA_ENST00000493381.1_3'UTR	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	68						integral component of membrane (GO:0016021)				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCGGGTTGTATCACCGTCCA	0.622																																																0													97	104	102					3																	49450062		2203	4300	6503	SO:0001583	missense	6988				CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"T-cell leukemia translocation altered gene"			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.203A>C	3.37:g.49450062A>C	ENSP00000273590:p.Tyr68Ser		B2R4I4|Q6I9U4|Q9BSB0	Missense_Mutation	SNP	ENST00000273590.3	37	CCDS2796.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227375	0.79576	.	.	ENSG00000145022	ENST00000273590	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	L	0.36672	1.1	0.47819	D	0.999524	D	0.76494	0.999	D	0.78314	0.991	T	0.68142	-0.5487	9	0.87932	D	0	-6.6947	10.9752	0.47461	1.0:0.0:0.0:0.0	.	68	P57738	TCTA_HUMAN	S	68	.	ENSP00000273590:Y68S	Y	+	2	0	TCTA	49425066	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.695000	0.54749	2.093000	0.63338	0.454000	0.30748	TAT		0.622	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346210.1	NM_022171		C	49450062	A	C	49450062	3	2	573	1	0	0	0	0	1	0	0	0	15721	449	16	5	205	5	TCTA	3	49450062	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	989723	49450062	148572368	21	31200											
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130289877	130289877	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr3:130289877A>G	ENST00000358511.6	+	6	2648	c.2617A>G	c.(2617-2619)Att>Gtt	p.I873V	COL6A6_ENST00000453409.2_Missense_Mutation_p.I873V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	873	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACTGGAGGTAATTTCAGTGCT	0.522																																																0													59	61	60					3																	130289877		1923	4130	6053	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2617A>G	3.37:g.130289877A>G	ENSP00000351310:p.Ile873Val		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	2.338	-0.351889	0.05173	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78246	-1.16;-1.16	4.87	3.65	0.41850	von Willebrand factor, type A (3);	0.103160	0.42821	N	0.000647	T	0.63745	0.2537	L	0.31371	0.925	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.45934	-0.9227	10	0.18276	T	0.48	.	10.6766	0.45789	0.9216:0.0:0.0784:0.0	.	873	A6NMZ7	CO6A6_HUMAN	V	873	ENSP00000351310:I873V;ENSP00000399236:I873V	ENSP00000351310:I873V	I	+	1	0	COL6A6	131772567	0.000000	0.05858	0.982000	0.44146	0.306000	0.27790	0.842000	0.27627	0.769000	0.33313	0.459000	0.35465	ATT		0.522	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		G	130289877	A	G	130289877	3	3	573	1	0	0	0	0	1	0	0	0	3705	101	4	3	2639	3	COL6A6	3	130289877	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	80839815	130289877	67732553	22	31201											
CCDC39	339829	hgsc.bcm.edu;ucsc.edu	37	3	180349355	180349355	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr3:180349355T>C	ENST00000442201.2	-	14	2019	c.1900A>G	c.(1900-1902)Aaa>Gaa	p.K634E	CCDC39_ENST00000273654.4_Missense_Mutation_p.K718E	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	634					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCTCAATTTTACTTAGCCGC	0.343																																																0													74	72	73					3																	180349355		1820	4088	5908	SO:0001583	missense	339829			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1900A>G	3.37:g.180349355T>C	ENSP00000405708:p.Lys634Glu		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617477	0.66787	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	5.19	3.95	0.45737	.	0.162092	0.52532	D	0.000075	T	0.51601	0.1684	M	0.66939	2.045	0.38838	D	0.955997	P	0.39601	0.68	B	0.35727	0.209	T	0.56529	-0.7964	9	0.30078	T	0.28	-31.5987	11.7709	0.51958	0.0:0.0:0.1459:0.8541	.	634	Q9UFE4	CCD39_HUMAN	E	718;634	.	ENSP00000273654:K718E	K	-	1	0	CCDC39	181832049	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.828000	0.62730	2.076000	0.62316	0.533000	0.62120	AAA		0.343	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		C	180349355	T	C	180349355	3	2	573	1	0	0	0	0	1	0	0	0	2813	1763	61	3	953	3	CCDC39	3	180349355	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	50059478	180349355	17673075	23	31202											
ATP13A4	84239	hgsc.bcm.edu	37	3	193174889	193174889	+	Silent	SNP	C	C	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr3:193174889C>T	ENST00000342695.4	-	16	2137	c.1815G>A	c.(1813-1815)ctG>ctA	p.L605L	ATP13A4_ENST00000392443.3_Silent_p.L586L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	605						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCATTCTTTGCAGTGCCGATG	0.517																																																0													135	117	123					3																	193174889		2203	4300	6503	SO:0001819	synonymous_variant	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1815G>A	3.37:g.193174889C>T			B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	CCDS3304.2																																																																																				0.517	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		T	193174889	C	T	193174889	2	4	573	1	0	0	0	0	0	0	0	1	1126	697	25	2		2	ATP13A4	3	193174889	Silent	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	12825534	193174889	4847541	24	31203											
SRP72	6731	hgsc.bcm.edu	37	4	57335832	57335832	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr4:57335832C>A	ENST00000342756.5	+	2	844	c.123C>A	c.(121-123)aaC>aaA	p.N41K	SRP72_ENST00000504757.1_Missense_Mutation_p.N41K|SRP72_ENST00000510663.1_Missense_Mutation_p.N41K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	41					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TACAGATCAACAAAGATGACG	0.363																																																0													145	133	137					4																	57335832		2203	4300	6503	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.123C>A	4.37:g.57335832C>A	ENSP00000342181:p.Asn41Lys		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832408	0.32421	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.39997	1.05;1.05	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.256468	0.46442	D	0.000298	T	0.32585	0.0834	L	0.46157	1.445	0.48087	D	0.999588	B;B	0.30068	0.099;0.267	B;B	0.31101	0.029;0.124	T	0.07065	-1.0792	10	0.07325	T	0.83	.	11.5106	0.50490	0.179:0.821:0.0:0.0	.	41;41	G5E9Z8;O76094	.;SRP72_HUMAN	K	41;47;41	ENSP00000342181:N41K;ENSP00000424576:N41K	ENSP00000342181:N41K	N	+	3	2	SRP72	57030589	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.693000	0.54735	2.461000	0.83175	0.655000	0.94253	AAC		0.363	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			A	57335832	C	A	57335832	3	1	573	1	0	0	0	0	1	0	0	0	15162	477	17	4	129	4	SRP72	4	57335832	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10		57335832	133818444	25	31204											
SEC24D	9871	hgsc.bcm.edu;ucsc.edu	37	4	119736750	119736750	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr4:119736750T>A	ENST00000280551.6	-	5	767	c.529A>T	c.(529-531)Aca>Tca	p.T177S	SEC24D_ENST00000379735.5_Missense_Mutation_p.T177S|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	177	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCATTGAGTGTGGTGGGTGGT	0.582																																																0													252	220	231					4																	119736750		2203	4300	6503	SO:0001583	missense	9871			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.529A>T	4.37:g.119736750T>A	ENSP00000280551:p.Thr177Ser		Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.327046	0.24080	.	.	ENSG00000150961	ENST00000280551;ENST00000379735	T;T	0.75367	-0.92;-0.93	5.71	-2.26	0.06867	.	0.883002	0.10144	N	0.710432	T	0.53367	0.1792	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.11235	0.004;0.002	B;B	0.16289	0.015;0.006	T	0.34976	-0.9807	10	0.18276	T	0.48	-2.5431	11.0698	0.47997	0.0:0.2251:0.0:0.7749	.	177;177	O94855-2;O94855	.;SC24D_HUMAN	S	177	ENSP00000280551:T177S;ENSP00000369059:T177S	ENSP00000280551:T177S	T	-	1	0	SEC24D	119956198	0.001000	0.12720	0.004000	0.12327	0.623000	0.37688	0.020000	0.13466	-0.276000	0.09206	0.533000	0.62120	ACA		0.582	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			A	119736750	T	A	119736750	3	1	573	1	0	0	0	0	1	0	0	0	14003	1696	59	5	2645	5	SEC24D	4	119736750	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	62400918	119736750	71417526	26	31205											
PIK3R1	5295	hgsc.bcm.edu;ucsc.edu	37	5	67589208	67589208	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr5:67589208G>A	ENST00000521381.1	+	10	1812	c.1196G>A	c.(1195-1197)aGt>aAt	p.S399N	PIK3R1_ENST00000336483.5_Missense_Mutation_p.S129N|PIK3R1_ENST00000396611.1_Missense_Mutation_p.S399N|PIK3R1_ENST00000523872.1_Missense_Mutation_p.S36N|PIK3R1_ENST00000521657.1_Missense_Mutation_p.S399N|PIK3R1_ENST00000274335.5_Missense_Mutation_p.S399N|PIK3R1_ENST00000320694.8_Missense_Mutation_p.S99N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	399	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTAACCTTCAGTTCTGTGGTT	0.323			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											53	57	56					5																	67589208		2202	4298	6500	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1196G>A	5.37:g.67589208G>A	ENSP00000428056:p.Ser399Asn		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	6.905	0.536522	0.13188	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	D;D;D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.22	5.22	0.72569	SH2 motif (4);	0.042312	0.85682	N	0.000000	T	0.75532	0.3862	N	0.12527	0.23	0.23598	N	0.997322	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.55598	-0.8116	10	0.02654	T	1	-26.3464	11.4879	0.50365	0.9297:0.0:0.0703:0.0	.	69;129;99;399	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	N	399;399;399;399;99;36;129;72;36	ENSP00000428056:S399N;ENSP00000429277:S399N;ENSP00000379855:S399N;ENSP00000274335:S399N;ENSP00000323512:S99N;ENSP00000431058:S36N;ENSP00000338554:S129N;ENSP00000429156:S72N;ENSP00000430098:S36N	ENSP00000274335:S399N	S	+	2	0	PIK3R1	67624964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.940000	0.63533	1.105000	0.41606	-0.269000	0.10298	AGT		0.323	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		A	67589208	G	A	67589208	3	1	573	1	0	0	0	0	1	0	0	0	11920	1029	36	2	1360	2	PIK3R1	5	67589208	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10		67589208	113326052	27	31206											
CAMK4	814	hgsc.bcm.edu;ucsc.edu	37	5	110712609	110712609	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr5:110712609G>C	ENST00000282356.4	+	4	753	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	CAMK4_ENST00000512453.1_Missense_Mutation_p.E119Q	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TCTGGTCCTAGAACTCGTCAC	0.348																																																0													98	110	106					5																	110712609		2202	4300	6502	SO:0001583	missense	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.355G>C	5.37:g.110712609G>C	ENSP00000282356:p.Glu119Gln		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974305	0.74246	.	.	ENSG00000152495	ENST00000508074;ENST00000512453;ENST00000282356	T;T;T	0.68765	-0.11;-0.35;-0.35	5.83	5.83	0.93111	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054384	0.64402	D	0.000001	D	0.83571	0.5283	M	0.87328	2.875	0.48452	D	0.999657	D	0.61697	0.99	P	0.62382	0.901	D	0.85626	0.1267	10	0.72032	D	0.01	.	18.9504	0.92640	0.0:0.0:1.0:0.0	.	119	Q16566	KCC4_HUMAN	Q	119	ENSP00000426940:E119Q;ENSP00000422634:E119Q;ENSP00000282356:E119Q	ENSP00000282356:E119Q	E	+	1	0	CAMK4	110740508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.887000	0.87295	2.776000	0.95493	0.644000	0.83932	GAA		0.348	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		C	110712609	G	C	110712609	3	2	573	1	0	0	0	0	1	0	0	0	2607	943	33	4	369	4	CAMK4	5	110712609	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	43123401	110712609	70202651	28	31207											
COMMD10	51397	hgsc.bcm.edu;ucsc.edu	37	5	115469775	115469775	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr5:115469775T>A	ENST00000274458.4	+	5	472	c.410T>A	c.(409-411)gTt>gAt	p.V137D	COMMD10_ENST00000515539.1_Missense_Mutation_p.V123D	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	137	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		CTAGAGACCGTTGGATGGCAG	0.418																																																0													112	92	98					5																	115469775		2202	4300	6502	SO:0001583	missense	51397			AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.410T>A	5.37:g.115469775T>A	ENSP00000274458:p.Val137Asp		D3DT07|Q9P077	Missense_Mutation	SNP	ENST00000274458.4	37	CCDS34215.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595216	0.66219	.	.	ENSG00000145781	ENST00000274458;ENST00000515539	T;T	0.12569	2.67;2.67	6.02	6.02	0.97574	COMM domain (1);	0.161425	0.56097	D	0.000037	T	0.34337	0.0894	M	0.75264	2.295	0.51233	D	0.999913	D	0.59767	0.986	D	0.65573	0.936	T	0.09271	-1.0682	10	0.87932	D	0	-21.0337	10.5466	0.45064	0.0:0.0722:0.0:0.9278	.	137	Q9Y6G5	COMDA_HUMAN	D	137;123	ENSP00000274458:V137D;ENSP00000427319:V123D	ENSP00000274458:V137D	V	+	2	0	COMMD10	115497674	1.000000	0.71417	0.799000	0.32177	0.833000	0.47200	5.084000	0.64462	2.299000	0.77371	0.528000	0.53228	GTT		0.418	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144		A	115469775	T	A	115469775	3	1	573	1	0	0	0	0	1	0	0	0	3717	1725	60	5	428	5	COMMD10	5	115469775	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	4757166	115469775	65445485	29	31208											
GPX3	10318	hgsc.bcm.edu	37	5	150407659	150407659	+	IGR	SNP	C	C	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr5:150407659C>T	ENST00000389378.2	-	0	3268				GPX3_ENST00000517973.1_3'UTR|GPX3_ENST00000388825.4_Missense_Mutation_p.R217W	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1						defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTACATGAGGCGGCAGGCAGC	0.567																																																0													27	35	32					5																	150407659		2108	4228	6336	SO:0001628	intergenic_variant	2878			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025			5.37:g.150407659C>T			A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	CCDS34280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.863431|2.863431	0.51482|0.51482	.|.	.|.	ENSG00000211445|ENSG00000211445	ENST00000521632|ENST00000388825	.|T	.|0.03242	.|4.0	5.54|5.54	4.59|4.59	0.56863|0.56863	.|Thioredoxin-like fold (1);	.|0.485564	.|0.21174	.|N	.|0.078934	T|T	0.03651|0.03651	0.0104|0.0104	L|L	0.33339|0.33339	1.005|1.005	0.49483|0.49483	D|D	0.999797|0.999797	.|D	.|0.63046	.|0.992	.|B	.|0.40677	.|0.337	T|T	0.44847|0.44847	-0.9301|-0.9301	5|10	.|0.87932	.|D	.|0	.|.	9.7795|9.7795	0.40640|0.40640	0.2129:0.7115:0.0:0.0756|0.2129:0.7115:0.0:0.0756	.|.	.|217	.|P22352	.|GPX3_HUMAN	V|W	153|217	.|ENSP00000373477:R217W	.|ENSP00000373477:R217W	A|R	+|+	2|1	0|2	GPX3|GPX3	150387852|150387852	0.031000|0.031000	0.19500|0.19500	0.895000|0.895000	0.35142|0.35142	0.890000|0.890000	0.51754|0.51754	0.866000|0.866000	0.27954|0.27954	2.589000|2.589000	0.87451|0.87451	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.567	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		T	150407659	C	T	150407659	1	4	573	0	1	0	0	0	0	0	0	0	6743	759	27	1		1	GPX3	5	150407659	IGR	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	34937884	150407659	30507601	30	31209											
ADAM19	8728	hgsc.bcm.edu	37	5	156997963	156997963	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr5:156997963C>A	ENST00000517905.1	-	2	164	c.120G>T	c.(118-120)aaG>aaT	p.K40N	ADAM19_ENST00000394020.1_Missense_Mutation_p.K42N|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000257527.4_Missense_Mutation_p.K40N|AC106801.1_ENST00000518054.1_RNA			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	40					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGCTGCAGCTTGGGGCTGC	0.478																																																0													110	107	108					5																	156997963		2203	4300	6503	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.120G>T	5.37:g.156997963C>A	ENSP00000428654:p.Lys40Asn		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		.	.	.	.	.	.	.	.	.	.	C	6.615	0.481811	0.12581	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.01548	4.79;4.85;4.78	4.5	1.68	0.24146	.	1.104190	0.06943	N	0.813261	T	0.01627	0.0052	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.49283	-0.8956	10	0.17832	T	0.49	.	6.4914	0.22117	0.0:0.6912:0.0:0.3088	.	40	Q9H013-2	.	N	40;42;40	ENSP00000257527:K40N;ENSP00000377588:K42N;ENSP00000428654:K40N	ENSP00000257527:K40N	K	-	3	2	ADAM19	156930541	0.076000	0.21285	0.008000	0.14137	0.728000	0.41692	0.322000	0.19576	0.599000	0.29845	0.655000	0.94253	AAG		0.478	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		A	156997963	C	A	156997963	3	1	573	1	0	0	0	0	1	0	0	0	240	796	28	4	2724	4	ADAM19	5	156997963	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	6590304	156997963	23917297	31	31210											
HIST1H1C	3006	hgsc.bcm.edu;ucsc.edu	37	6	26056471	26056471	+	Silent	SNP	C	C	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr6:26056471C>T	ENST00000343677.2	-	1	228	c.186G>A	c.(184-186)ctG>ctA	p.L62L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	62	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						ACGCTTTTTTCAGAGCAGCCA	0.567																																																0													81	90	87					6																	26056471		2203	4300	6503	SO:0001819	synonymous_variant	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.186G>A	6.37:g.26056471C>T			A8K4I2	Silent	SNP	ENST00000343677.2	37	CCDS4577.1																																																																																				0.567	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		T	26056471	C	T	26056471	2	4	573	1	0	0	0	0	0	0	0	1	7126	813	29	2		2	HIST1H1C	6	26056471	Silent	SNP	C	TCGA-CZ-4857-01A-01D-1373-10		26056471	145058596	32	31211											
AHI1	54806	hgsc.bcm.edu;ucsc.edu	37	6	135644325	135644325	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr6:135644325A>C	ENST00000367800.4	-	23	3519	c.3303T>G	c.(3301-3303)ttT>ttG	p.F1101L	AHI1_ENST00000417892.2_Missense_Mutation_p.F455L|AHI1_ENST00000457866.2_Missense_Mutation_p.F1101L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1101	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GATTAGCTGGAAAATAACCTT	0.388																																																0													119	110	113					6																	135644325		1892	4095	5987	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3303T>G	6.37:g.135644325A>C	ENSP00000356774:p.Phe1101Leu		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.98|18.98	3.738224|3.738224	0.69304|0.69304	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367799|ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602	T|T;T;T;T	0.48201|0.44881	0.82|0.91;0.91;0.91;0.91	6.06|6.06	4.89|4.89	0.63831|0.63831	.|Src homology-3 domain (5);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.56352|0.56352	0.1979|0.1979	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.64706|0.64706	-0.6344|-0.6344	8|10	0.87932|0.87932	D|D	0|0	-20.0225|-20.0225	12.2675|12.2675	0.54686|0.54686	0.9339:0.0:0.0661:0.0|0.9339:0.0:0.0661:0.0	.|.	.|1101;1101	.|Q8N157;Q4FD35	.|AHI1_HUMAN;.	C|L	601|1101;1101;455;1101	ENSP00000356773:F601C|ENSP00000356774:F1101L;ENSP00000388650:F1101L;ENSP00000416867:F455L;ENSP00000265602:F1101L	ENSP00000356773:F601C|ENSP00000265602:F1101L	F|F	-|-	2|3	0|2	AHI1|AHI1	135686018|135686018	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.962000|2.962000	0.49176|0.49176	1.107000|1.107000	0.41642|0.41642	0.533000|0.533000	0.62120|0.62120	TTC|TTT		0.388	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		C	135644325	A	C	135644325	3	2	573	1	0	0	0	0	1	0	0	0	413	243	9	5	307	5	AHI1	6	135644325	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	109587854	135644325	35470742	33	31212											
SYNE1	23345	hgsc.bcm.edu;ucsc.edu	37	6	152639292	152639292	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr6:152639292T>G	ENST00000367255.5	-	86	17097	c.16496A>C	c.(16495-16497)aAg>aCg	p.K5499T	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.K5499T|SYNE1_ENST00000448038.1_Missense_Mutation_p.K5428T|SYNE1_ENST00000356820.4_Missense_Mutation_p.K23T|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5428T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5499					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCTATCTTCTTGGCCAGTGG	0.453										HNSCC(10;0.0054)																																						0													232	203	213					6																	152639292		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16496A>C	6.37:g.152639292T>G	ENSP00000356224:p.Lys5499Thr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525765	0.27299	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000356820	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.66	3.27	0.37495	.	0.171380	0.41194	D	0.000930	T	0.13798	0.0334	L	0.57536	1.79	0.24184	N	0.995573	P;B;B;B	0.38767	0.646;0.304;0.304;0.43	B;B;B;B	0.36666	0.23;0.05;0.05;0.1	T	0.14282	-1.0478	10	0.21014	T	0.42	.	9.1761	0.37112	0.0:0.2066:0.0:0.7934	.	5499;5499;5499;5428	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	5499;5428;5499;5428;23	ENSP00000356224:K5499T;ENSP00000396024:K5428T;ENSP00000265368:K5499T;ENSP00000390975:K5428T;ENSP00000349276:K23T	ENSP00000265368:K5499T	K	-	2	0	SYNE1	152680985	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	2.112000	0.41892	0.425000	0.26087	-1.054000	0.02325	AAG		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		G	152639292	T	G	152639292	3	3	573	1	0	0	0	0	1	0	0	0	15450	1609	56	5	10214	5	SYNE1	6	152639292	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	16994967	152639292	18475775	34	31213											
FBXO5	26271	hgsc.bcm.edu;ucsc.edu	37	6	153294238	153294238	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr6:153294238G>C	ENST00000229758.3	-	3	910	c.852C>G	c.(850-852)atC>atG	p.I284M	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000367241.3_Missense_Mutation_p.I238M	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	284	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CATCTTCTAGGATCTTCTTCC	0.348																																					NSCLC(121;372 1757 17721 17977 29669)											0													149	125	133					6																	153294238		2203	4300	6503	SO:0001583	missense	26271			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.852C>G	6.37:g.153294238G>C	ENSP00000229758:p.Ile284Met		B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184323	0.57800	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.25579	1.79;1.79	5.95	-0.36	0.12568	F-box domain, cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	M	0.80183	2.485	0.49051	D	0.999742	D	0.89917	1.0	D	0.79784	0.993	T	0.17776	-1.0358	10	0.72032	D	0.01	-20.8697	4.0269	0.09692	0.4873:0.0:0.2694:0.2434	.	284	Q9UKT4	FBX5_HUMAN	M	284;238	ENSP00000229758:I284M;ENSP00000356210:I238M	ENSP00000229758:I284M	I	-	3	3	FBXO5	153335931	0.994000	0.37717	1.000000	0.80357	0.924000	0.55760	0.321000	0.19558	0.137000	0.18759	-0.471000	0.05019	ATC		0.348	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			C	153294238	G	C	153294238	3	2	573	1	0	0	0	0	1	0	0	0	5760	1164	41	4	503	4	FBXO5	6	153294238	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	654946	153294238	17820829	35	31214											
DLL1	28514	hgsc.bcm.edu	37	6	170592784	170592784	+	Missense_Mutation	SNP	G	G	T	rs202240161	byFrequency	TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr6:170592784G>T	ENST00000366756.3	-	9	1916	c.1583C>A	c.(1582-1584)gCg>gAg	p.A528E		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	528					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.A528V(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTCCACCACCGCTGGGCCCGG	0.697																																																1	Substitution - Missense(1)	lung(1)											12	14	14					6																	170592784		2155	4241	6396	SO:0001583	missense	28514			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1583C>A	6.37:g.170592784G>T	ENSP00000355718:p.Ala528Glu		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	1.783	-0.481378	0.04383	.	.	ENSG00000198719	ENST00000366756	D	0.87650	-2.28	5.41	1.56	0.23342	.	0.674133	0.11869	U	0.521677	T	0.60945	0.2308	N	0.14661	0.345	0.23070	N	0.998345	B	0.24092	0.097	B	0.29716	0.106	T	0.57539	-0.7794	10	0.87932	D	0	.	5.9266	0.19116	0.7104:0.1391:0.1505:0.0	.	528	O00548	DLL1_HUMAN	E	528	ENSP00000355718:A528E	ENSP00000355718:A528E	A	-	2	0	DLL1	170434709	0.237000	0.23815	0.694000	0.30210	0.226000	0.24999	2.160000	0.42348	0.375000	0.24679	-0.302000	0.09304	GCG		0.697	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			T	170592784	G	T	170592784	3	4	573	1	0	0	0	0	1	0	0	0	4568	1087	38	4	600	4	DLL1	6	170592784	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	17298546	170592784	522283	36	31215											
EIF4H	7458	hgsc.bcm.edu	37	7	73604047	73604047	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr7:73604047G>C	ENST00000265753.8	+	3	431	c.292G>C	c.(292-294)Gcc>Ccc	p.A98P	MIR590_ENST00000385008.1_RNA|EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Missense_Mutation_p.A98P	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	98	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						CCTTAAGGAAGCCTTGACATA	0.398																																																0													151	139	143					7																	73604047		2203	4300	6503	SO:0001583	missense	7458				CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.292G>C	7.37:g.73604047G>C	ENSP00000265753:p.Ala98Pro		A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	37	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261605	0.95368	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	D;D	0.88354	-2.37;-2.37	5.38	5.38	0.77491	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	0.999;0.999;0.992;1.0	D	0.98758	1.0723	10	0.87932	D	0	-15.4363	17.6821	0.88246	0.0:0.0:1.0:0.0	.	98;98;98;98	B4DMV6;Q75MU2;Q15056-2;Q15056	.;.;.;IF4H_HUMAN	P	98	ENSP00000265753:A98P;ENSP00000265754:A98P	ENSP00000265753:A98P	A	+	1	0	EIF4H	73241983	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.394000	0.97261	2.532000	0.85374	0.655000	0.94253	GCC		0.398	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		C	73604047	G	C	73604047	3	2	573	1	0	0	0	0	1	0	0	0	5041	971	34	4	302	4	EIF4H	7	73604047	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10		73604047	85534616	37	31216											
SAMD9	54809	hgsc.bcm.edu;ucsc.edu	37	7	92735216	92735216	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr7:92735216A>C	ENST00000379958.2	-	3	464	c.195T>G	c.(193-195)atT>atG	p.I65M		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	65	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTCTATTTGAATAGCTGGTC	0.388																																																0													140	137	138					7																	92735216		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.195T>G	7.37:g.92735216A>C	ENSP00000369292:p.Ile65Met		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896413	0.52121	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.47869	0.83;0.83	4.79	0.969	0.19686	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.401197	0.20891	N	0.083840	T	0.41396	0.1157	N	0.13140	0.3	0.22468	N	0.999073	D	0.54772	0.968	P	0.58331	0.837	T	0.24728	-1.0152	10	0.59425	D	0.04	.	8.1987	0.31411	0.4148:0.0:0.5852:0.0	.	65	Q5K651	SAMD9_HUMAN	M	65	ENSP00000369292:I65M;ENSP00000414529:I65M	ENSP00000369292:I65M	I	-	3	3	SAMD9	92573152	0.000000	0.05858	0.997000	0.53966	0.708000	0.40852	-0.221000	0.09202	0.337000	0.23665	-0.237000	0.12165	ATT		0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		C	92735216	A	C	92735216	3	2	573	1	0	0	0	0	1	0	0	0	13832	242	9	5	4578	5	SAMD9	7	92735216	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	19131169	92735216	66403447	38	31217											
SMO	6608	hgsc.bcm.edu	37	7	128848598	128848598	+	Splice_Site	SNP	A	A	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr7:128848598A>T	ENST00000249373.3	+	7	1544		c.e7-1		RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor						adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CCTTCTGTTCAGGAGTCATGA	0.592			Mis		skin basal cell																																		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													51	42	45					7																	128848598		2203	4300	6503	SO:0001630	splice_region_variant	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1265-1A>T	7.37:g.128848598A>T			A4D1K5	Splice_Site	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271073	0.80469	.	.	ENSG00000128602	ENST00000249373	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5136	0.61528	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMO	128635834	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.045000	0.93812	1.873000	0.54277	0.533000	0.62120	.		0.592	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631	Intron	T	128848598	A	T	128848598	5	4	573	1	0	0	0	0	0	0	1	0	14806	202	7	5	1289	5	SMO	7	128848598	Splice_Site	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	36113382	128848598	30290065	39	31218											
SSPO	23145	hgsc.bcm.edu	37	7	149512019	149512019	+	RNA	SNP	C	C	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr7:149512019C>G	ENST00000378016.2	+	0	10569							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGAAAATTCCACCCAGTGCA	0.652																																																0													9	11	10					7																	149512019		2150	4192	6342			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149512019C>G			Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																					0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				G	149512019	C	G	149512019	1	3	573	0	1	0	0	0	0	0	0	0	15194	581	21	4		4	SSPO	7	149512019	RNA	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	20663421	149512019	9626644	40	31219											
MLL3	58508	hgsc.bcm.edu;ucsc.edu	37	7	151848093	151848093	+	Splice_Site	SNP	C	C	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr7:151848093C>G	ENST00000262189.6	-	51	12885		c.e51-1		KMT2C_ENST00000485241.1_5'Flank|KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTCGGGAATCCTGAAAAGCAA	0.343																																																0													76	77	76					7																	151848093		2203	4300	6503	SO:0001630	splice_region_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12667-1G>C	7.37:g.151848093C>G			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965982	0.74131	.	.	ENSG00000055609	ENST00000360104;ENST00000262189;ENST00000355193;ENST00000424877	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9707	0.92713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151479026	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.204000	0.72143	2.484000	0.83849	0.557000	0.71058	.		0.343	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Intron	G	151848093	C	G	151848093	5	3	573	1	0	0	0	0	0	0	1	0	9624	695	24	4	2105	4	MLL3	7	151848093	Splice_Site	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	2336074	151848093	7290570	41	31220											
VPS13B	157680	hgsc.bcm.edu	37	8	100832149	100832149	+	Splice_Site	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr8:100832149G>A	ENST00000358544.2	+	49	8979	c.8868G>A	c.(8866-8868)agG>agA	p.R2956R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Splice_Site_p.R2931R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2956					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTGGAACAGGAATGAACAGC	0.403																																					Colon(161;2205 2542 7338 31318)											0													118	110	113					8																	100832149		2203	4300	6503	SO:0001630	splice_region_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8868-1G>A	8.37:g.100832149G>A			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.403	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	Silent	A	100832149	G	A	100832149	5	1	573	1	0	0	0	0	0	0	1	0	17195	1188	41	2	9252	2	VPS13B	8	100832149	Splice_Site	SNP	G	TCGA-CZ-4857-01A-01D-1373-10		100832149	45531873	42	31221											
SPTAN1	6709	hgsc.bcm.edu;ucsc.edu	37	9	131374049	131374049	+	Silent	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr9:131374049G>A	ENST00000372731.4	+	37	4925	c.4815G>A	c.(4813-4815)cgG>cgA	p.R1605R	SPTAN1_ENST00000372739.3_Silent_p.R1610R|SPTAN1_ENST00000358161.5_Silent_p.R1610R	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1605					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACGCTGACCGGATCCGTGGGG	0.537																																					NSCLC(120;833 1744 2558 35612 37579)											0													75	64	68					9																	131374049		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4815G>A	9.37:g.131374049G>A			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	CCDS6905.1																																																																																				0.537	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		A	131374049	G	A	131374049	2	1	573	1	0	0	0	0	0	0	0	1	15122	1161	41	2		2	SPTAN1	9	131374049	Silent	SNP	G	TCGA-CZ-4857-01A-01D-1373-10		131374049	9839382	43	31222	229	2									
SPTAN1	6709	hgsc.bcm.edu;ucsc.edu	37	9	131374053	131374053	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr9:131374053C>G	ENST00000372731.4	+	37	4929	c.4819C>G	c.(4819-4821)Cgt>Ggt	p.R1607G	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R1612G|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R1612G	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1607					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGACCGGATCCGTGGGGTTAT	0.542																																					NSCLC(120;833 1744 2558 35612 37579)											0													76	65	69					9																	131374053		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4819C>G	9.37:g.131374053C>G	ENSP00000361816:p.Arg1607Gly		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467939	0.63625	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.50813	0.73;1.34;0.73	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.39064	0.1064	N	0.20685	0.6	0.80722	D	1	B;P;P	0.38597	0.008;0.586;0.639	B;B;B	0.38755	0.048;0.185;0.281	T	0.20505	-1.0273	10	0.39692	T	0.17	.	19.756	0.96291	0.0:1.0:0.0:0.0	.	1587;1612;1607	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	G	1612;1607;1612;1587	ENSP00000350882:R1612G;ENSP00000361816:R1607G;ENSP00000361824:R1612G	ENSP00000350882:R1612G	R	+	1	0	SPTAN1	130413874	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	5.963000	0.70372	2.665000	0.90641	0.655000	0.94253	CGT		0.542	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		G	131374053	C	G	131374053	3	3	573	1	0	0	0	0	1	0	0	0	15122	652	23	4	4980	4	SPTAN1	9	131374053	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	4	131374053	9839378	44	31223	229	2									
VAV2	7410	hgsc.bcm.edu	37	9	136633699	136633699	+	Missense_Mutation	SNP	G	G	C	rs61751477	byFrequency	TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr9:136633699G>C	ENST00000371850.3	-	29	2485	c.2454C>G	c.(2452-2454)atC>atG	p.I818M	VAV2_ENST00000406606.3_Missense_Mutation_p.I779M|VAV2_ENST00000371851.1_Missense_Mutation_p.I808M	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	818	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CAGCTGTGCCGATGACGCGGG	0.627													G|||	53	0.0105831	0.0091	0.0231	5008	,	,		20442	0.002		0.0169	False		,,,				2504	0.0061															0								G	MET/ILE,MET/ILE	35,4371	40.0+/-72.8	0,35,2168	68	57	61		2454,2337	1	1	9	dbSNP_129	61	119,8481	60.2+/-122.0	1,117,4182	yes	missense,missense	VAV2	NM_001134398.1,NM_003371.3	10,10	1,152,6350	CC,CG,GG		1.3837,0.7944,1.1841	benign,benign	818/879,779/840	136633699	154,12852	2203	4300	6503	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2454C>G	9.37:g.136633699G>C	ENSP00000360916:p.Ile818Met		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	26	0.011904761904761904	6	0.012195121951219513	8	0.022099447513812154	2	0.0034965034965034965	10	0.013192612137203167	G	14.32	2.500060	0.44455	0.007944	0.013837	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;D	0.82619	2.27;2.27;-1.63	4.98	0.998	0.19857	Src homology-3 domain (2);	0.061924	0.64402	D	0.000002	T	0.66237	0.2769	L	0.33624	1.015	0.35581	D	0.806302	D;B	0.62365	0.991;0.411	P;B	0.55545	0.778;0.33	T	0.74788	-0.3546	10	0.66056	D	0.02	.	4.4133	0.11443	0.3831:0.0:0.395:0.2219	rs61751477	818;779	P52735;P52735-3	VAV2_HUMAN;.	M	818;808;779;808	ENSP00000360916:I818M;ENSP00000360917:I808M;ENSP00000385362:I779M	ENSP00000317258:I808M	I	-	3	3	VAV2	135623520	0.330000	0.24705	1.000000	0.80357	0.522000	0.34438	-0.406000	0.07187	0.152000	0.19188	-0.244000	0.11960	ATC		0.627	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			C	136633699	G	C	136633699	3	2	573	1	0	0	0	0	1	0	0	0	17137	1048	37	4	190	4	VAV2	9	136633699	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	5259646	136633699	4579732	45	31224											
TACR2	6865	hgsc.bcm.edu;ucsc.edu	37	10	71166860	71166860	+	Silent	SNP	G	G	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr10:71166860G>T	ENST00000373306.4	-	4	1461	c.918C>A	c.(916-918)atC>atA	p.I306I	TACR2_ENST00000373307.1_Silent_p.I94I	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	306					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GACAGCAGTAGATGATGGGAT	0.597																																																0													196	167	177					10																	71166860		2203	4300	6503	SO:0001819	synonymous_variant	6865				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"GPCR / Class A : Tachykinin receptors"	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.918C>A	10.37:g.71166860G>T			A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	ENST00000373306.4	37	CCDS7293.1																																																																																				0.597	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			T	71166860	G	T	71166860	2	4	573	1	0	0	0	0	0	0	0	1	15511	932	33	4		4	TACR2	10	71166860	Silent	SNP	G	TCGA-CZ-4857-01A-01D-1373-10		71166860	64367887	46	31225											
GRID1	2894	hgsc.bcm.edu;ucsc.edu	37	10	87379671	87379671	+	Silent	SNP	C	C	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr10:87379671C>A	ENST00000327946.7	-	14	2398	c.2313G>T	c.(2311-2313)ggG>ggT	p.G771G	GRID1_ENST00000536331.1_Silent_p.G342G	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	771					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCAGGGCAATCCCGTAACCCT	0.597										Multiple Myeloma(13;0.14)																																						0													105	80	89					10																	87379671		2203	4300	6503	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2313G>T	10.37:g.87379671C>A			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																				0.597	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		A	87379671	C	A	87379671	2	1	573	1	0	0	0	0	0	0	0	1	6773	842	30	4		4	GRID1	10	87379671	Silent	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	16212811	87379671	48155076	47	31226											
COL17A1	1308	hgsc.bcm.edu;ucsc.edu	37	10	105815754	105815755	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr10:105815754_105815755delCT	ENST00000353479.5	-	18	1762_1763	c.1472_1473delAG	c.(1471-1473)gagfs	p.E491fs	COL17A1_ENST00000369733.3_Frame_Shift_Del_p.E491fs|COL17A1_ENST00000480127.1_5'Flank	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	491	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTTCCTCACCTCCTCCGCTGC	0.574																																																0																																										SO:0001589	frameshift_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1472_1473delAG	10.37:g.105815754_105815755delCT	ENSP00000340937:p.Glu491fs		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Frame_Shift_Del	DEL	ENST00000353479.5	37	CCDS7554.1																																																																																				0.574	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		-	105815755	CT	-	105815754	7	5	573	1	0	1	0	1	0	0	0	0	3676	680	24	0	3176	0	COL17A1	10	105815754	Frame_Shift_Del	DEL	CT	TCGA-CZ-4857-01A-01D-1373-10	18436083	105815754	29718993	48	31227											
SLC17A6	57084	hgsc.bcm.edu;ucsc.edu	37	11	22381043	22381043	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr11:22381043C>G	ENST00000263160.3	+	4	980	c.543C>G	c.(541-543)atC>atG	p.I181M	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	181					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GATGTGTCATCTTTGTCAGAA	0.408																																																0													153	138	143					11																	22381043		2203	4300	6503	SO:0001583	missense	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.543C>G	11.37:g.22381043C>G	ENSP00000263160:p.Ile181Met		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.338208	0.24253	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.60171	0.21	5.29	3.31	0.37934	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.046382	0.85682	D	0.000000	T	0.47469	0.1447	L	0.37800	1.135	0.51482	D	0.999922	B	0.18166	0.026	B	0.30943	0.122	T	0.38993	-0.9635	10	0.28530	T	0.3	.	10.6738	0.45774	0.1316:0.7972:0.0:0.0712	.	181	Q9P2U8	VGLU2_HUMAN	M	181;69	ENSP00000263160:I181M	ENSP00000263160:I181M	I	+	3	3	SLC17A6	22337619	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.800000	0.27042	1.375000	0.46248	-0.225000	0.12378	ATC		0.408	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		G	22381043	C	G	22381043	3	3	573	1	0	0	0	0	1	0	0	0	14427	903	32	4	557	4	SLC17A6	11	22381043	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10		22381043	112625473	49	31228											
RCOR2	283248	hgsc.bcm.edu	37	11	63681731	63681731	+	Splice_Site	SNP	A	A	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr11:63681731A>T	ENST00000301459.4	-	7	1063		c.e7+1		RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CTGGGAGCTCACCTCTCTCTT	0.627																																																0													60	49	53					11																	63681731		2201	4297	6498	SO:0001630	splice_region_variant	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.675+1T>A	11.37:g.63681731A>T			Q96FP3	Splice_Site	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787774	0.49997	.	.	ENSG00000167771	ENST00000301459	.	.	.	4.73	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3652	0.38219	0.913:0.0:0.087:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RCOR2	63438307	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.170000	0.77587	0.775000	0.33450	0.459000	0.35465	.		0.627	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587	Intron	T	63681731	A	T	63681731	5	4	573	1	0	0	0	0	0	0	1	0	13189	173	6	5	918	5	RCOR2	11	63681731	Splice_Site	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	41300688	63681731	71324785	50	31229											
GPR137	56834	hgsc.bcm.edu;ucsc.edu	37	11	64054436	64054436	+	Splice_Site	SNP	G	G	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr11:64054436G>C	ENST00000313074.3	+	2	462		c.e2-1		GPR137_ENST00000438980.2_Splice_Site|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000377702.4_Splice_Site|GPR137_ENST00000539851.1_Splice_Site|GPR137_ENST00000411458.1_Splice_Site|BAD_ENST00000309032.3_5'Flank|BAD_ENST00000544785.1_5'Flank	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TCTGCTCCTAGGTGGTGTTCA	0.622																																																0													89	69	76					11																	64054436		2201	4297	6498	SO:0001630	splice_region_variant	56834			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.358-1G>C	11.37:g.64054436G>C			B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Splice_Site	SNP	ENST00000313074.3	37	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376702	0.61735	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000536667;ENST00000539833;ENST00000377702;ENST00000535675;ENST00000543383;ENST00000538032;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2732	0.49150	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR137	63811012	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.301000	0.72782	2.024000	0.59613	0.561000	0.74099	.		0.622	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155	Intron	C	64054436	G	C	64054436	5	2	573	1	0	0	0	0	0	0	1	0	6647	1014	35	4	545	4	GPR137	11	64054436	Splice_Site	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	372705	64054436	70952080	51	31230	230	2									
GPR137	56834	hgsc.bcm.edu;ucsc.edu	37	11	64054443	64054443	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr11:64054443T>G	ENST00000313074.3	+	2	469	c.364T>G	c.(364-366)Ttc>Gtc	p.F122V	GPR137_ENST00000438980.2_Missense_Mutation_p.F122V|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000377702.4_Missense_Mutation_p.F122V|GPR137_ENST00000539851.1_Missense_Mutation_p.F122V|GPR137_ENST00000411458.1_Missense_Mutation_p.F180V|BAD_ENST00000309032.3_5'Flank|BAD_ENST00000544785.1_5'Flank	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	122						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTAGGTGGTGTTCAAGGCCAA	0.627																																																0													86	67	73					11																	64054443		2201	4297	6498	SO:0001583	missense	56834			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.364T>G	11.37:g.64054443T>G	ENSP00000321698:p.Phe122Val		B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.589753	0.66105	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000536667;ENST00000539833;ENST00000377702;ENST00000535675;ENST00000543383;ENST00000538032;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	T;T;T;T;T;T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	3.91	3.91	0.45181	.	0.074547	0.53938	D	0.000048	T	0.17492	0.0420	L	0.42245	1.32	0.80722	D	1	P;P;B;B;P;P;B	0.50819	0.597;0.939;0.337;0.234;0.597;0.886;0.337	P;B;B;B;P;B;B	0.46110	0.504;0.298;0.057;0.061;0.504;0.298;0.057	T	0.01280	-1.1397	10	0.49607	T	0.09	-16.8723	9.0623	0.36442	0.0:0.0:0.0:1.0	.	122;180;128;122;122;122;122	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	V	128;180;122;10;122;122;122;122;122;122;122;122;122;122	ENSP00000445570:F128V;ENSP00000411827:F180V;ENSP00000442792:F122V;ENSP00000438716:F122V;ENSP00000366931:F122V;ENSP00000446342:F122V;ENSP00000441003:F122V;ENSP00000445000:F122V;ENSP00000415698:F122V;ENSP00000321698:F122V;ENSP00000441034:F122V;ENSP00000442929:F122V	ENSP00000321698:F122V	F	+	1	0	GPR137	63811019	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.882000	0.39648	1.646000	0.50622	0.459000	0.35465	TTC		0.627	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		G	64054443	T	G	64054443	3	3	573	1	0	0	0	0	1	0	0	0	6647	1725	60	5	552	5	GPR137	11	64054443	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	7	64054443	70952073	52	31231	230	2									
C11orf59	55004	hgsc.bcm.edu	37	11	71809888	71809888	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr11:71809888A>T	ENST00000278671.5	-	3	367	c.205T>A	c.(205-207)Tct>Act	p.S69T	LAMTOR1_ENST00000535107.1_Missense_Mutation_p.S69T|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000435085.1_Intron|LRTOMT_ENST00000419228.1_Intron|LAMTOR1_ENST00000538404.1_Missense_Mutation_p.S69T|LAMTOR1_ENST00000545249.1_Missense_Mutation_p.S69T|LRTOMT_ENST00000307198.7_Intron|LAMTOR1_ENST00000539797.1_5'UTR	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1	69				S -> P (in Ref. 2; CAG33528). {ECO:0000305}.	cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						TCTGCAGCAGACACATCAATG	0.567																																																0													85	56	66					11																	71809888		2010	3829	5839	SO:0001583	missense	55004			AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"p27kip1 releasing factor from RhoA", "protein associated with DRMs and endosomes"	613510	"chromosome 11 open reading frame 59"	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869	ENST00000278671.5:c.205T>A	11.37:g.71809888A>T	ENSP00000278671:p.Ser69Thr		Q8WZ09|Q9NWT0	Missense_Mutation	SNP	ENST00000278671.5	37	CCDS8209.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	31|31	5.102961|5.102961	0.94245|0.94245	.|.	.|.	ENSG00000149357|ENSG00000149357	ENST00000544594|ENST00000545249;ENST00000535107;ENST00000278671;ENST00000538404	.|T;T;T;T	.|0.45668	.|0.89;0.89;0.89;0.89	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.47248	.|0.1435	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|P	.|0.42518	.|0.782	.|B	.|0.40375	.|0.327	.|T	.|0.53408	.|-0.8443	.|10	0.56958|0.62326	D|D	0.05|0.03	.|.	15.8237|15.8237	0.78678|0.78678	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|69	.|Q6IAA8	.|LTOR1_HUMAN	X|T	55|69	.|ENSP00000440738:S69T;ENSP00000445170:S69T;ENSP00000278671:S69T;ENSP00000439011:S69T	ENSP00000439482:C50X|ENSP00000278671:S69T	C|S	-|-	3|1	2|0	LAMTOR1|LAMTOR1	71487536|71487536	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.823000|0.823000	0.46562|0.46562	6.875000|6.875000	0.75551|0.75551	2.224000|2.224000	0.72417|0.72417	0.533000|0.533000	0.62120|0.62120	TGT|TCT		0.567	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396733.1	NM_017907		T	71809888	A	T	71809888	3	4	573	1	0	0	0	0	1	0	0	0	1654	275	10	5	292	5	C11orf59	11	71809888	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	7755445	71809888	63196628	53	31232											
CHORDC1	26973	hgsc.bcm.edu	37	11	89956063	89956063	+	Silent	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr11:89956063G>A	ENST00000320585.6	-	1	469	c.60C>T	c.(58-60)tcC>tcT	p.S20S	CHORDC1_ENST00000530765.1_Silent_p.S20S|CHORDC1_ENST00000457199.2_Silent_p.S20S	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	20	CHORD 1. {ECO:0000255|PROSITE- ProRule:PRU00734}.|Interaction with PPP5C. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TCTTACCGTCGGAATTGGTCT	0.642																																																0													46	38	41					11																	89956063		2201	4298	6499	SO:0001819	synonymous_variant	26973			AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1", "cysteine and histidine-rich domain (CHORD)-containing 1"			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.60C>T	11.37:g.89956063G>A			B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Silent	SNP	ENST00000320585.6	37	CCDS8289.1																																																																																				0.642	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		A	89956063	G	A	89956063	2	1	573	1	0	0	0	0	0	0	0	1	3367	1103	39	1		1	CHORDC1	11	89956063	Silent	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	18146175	89956063	45050453	54	31233											
OR8B12	219858	hgsc.bcm.edu;ucsc.edu	37	11	124412848	124412848	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr11:124412848T>G	ENST00000306842.2	-	1	727	c.703A>C	c.(703-705)Aaa>Caa	p.K235Q		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	235						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(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CTAAAGGCTTTGGACCTGCCT	0.453																																																0													89	80	83					11																	124412848		2201	4299	6500	SO:0001583	missense	219858				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.703A>C	11.37:g.124412848T>G	ENSP00000307159:p.Lys235Gln		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709520	0.48517	.	.	ENSG00000170953	ENST00000306842	T	0.00372	7.73	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.01730	0.0055	H	0.97611	4.04	0.38601	D	0.950676	D	0.89917	1.0	D	0.97110	1.0	T	0.11867	-1.0570	10	0.87932	D	0	.	12.6428	0.56718	0.0:0.0:0.0:1.0	.	235	Q8NGG6	OR8BC_HUMAN	Q	235	ENSP00000307159:K235Q	ENSP00000307159:K235Q	K	-	1	0	OR8B12	123918058	1.000000	0.71417	0.992000	0.48379	0.176000	0.22953	5.590000	0.67530	1.988000	0.58038	0.528000	0.53228	AAA		0.453	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			G	124412848	T	G	124412848	3	3	573	1	0	0	0	0	1	0	0	0	11228	1821	63	5	231	5	OR8B12	11	124412848	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	34456785	124412848	10593668	55	31234											
CLSTN3	9746	hgsc.bcm.edu;ucsc.edu	37	12	7288128	7288128	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr12:7288128G>A	ENST00000266546.6	+	4	1039	c.589G>A	c.(589-591)Gac>Aac	p.D197N	CLSTN3_ENST00000537408.1_Missense_Mutation_p.D209N	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	197	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CATTGACAATGACGGTGAGTC	0.582																																																0													160	128	139					12																	7288128		2203	4300	6503	SO:0001583	missense	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.589G>A	12.37:g.7288128G>A	ENSP00000266546:p.Asp197Asn		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831656	0.32329	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.44083	0.93;0.93	5.02	5.02	0.67125	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	N	0.04994	-0.135	0.80722	D	1	D;B	0.64830	0.994;0.309	P;B	0.56343	0.796;0.23	T	0.29150	-1.0021	10	0.20519	T	0.43	-28.6439	18.5263	0.90974	0.0:0.0:1.0:0.0	.	209;197	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	N	197;209	ENSP00000266546:D197N;ENSP00000440679:D209N	ENSP00000266546:D197N	D	+	1	0	CLSTN3	7179395	1.000000	0.71417	0.471000	0.27229	0.131000	0.20780	9.657000	0.98554	2.619000	0.88677	0.462000	0.41574	GAC		0.582	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		A	7288128	G	A	7288128	3	1	573	1	0	0	0	0	1	0	0	0	3565	1290	45	2	603	2	CLSTN3	12	7288128	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10		7288128	126563767	56	31235											
TMEM117	84216	hgsc.bcm.edu;ucsc.edu	37	12	44782260	44782260	+	Silent	SNP	A	A	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr12:44782260A>G	ENST00000266534.3	+	8	1477	c.1350A>G	c.(1348-1350)cgA>cgG	p.R450R	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.R346R	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	450						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GAATCACTCGAGAAAACACCC	0.423																																																0													135	132	133					12																	44782260		2203	4300	6503	SO:0001819	synonymous_variant	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1350A>G	12.37:g.44782260A>G				Silent	SNP	ENST00000266534.3	37	CCDS8745.1																																																																																				0.423	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		G	44782260	A	G	44782260	2	3	573	1	0	0	0	0	0	0	0	1	16036	291	11	3		3	TMEM117	12	44782260	Silent	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	37494132	44782260	89069635	57	31236											
KRT73	319101	hgsc.bcm.edu;ucsc.edu	37	12	53009994	53009994	+	Silent	SNP	C	C	T	rs139888404		TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr12:53009994C>T	ENST00000305748.3	-	2	652	c.618G>A	c.(616-618)tcG>tcA	p.S206S	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	206	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTCAGCTCCGAGTCCAGCC	0.607																																																0								C		0,4406		0,0,2203	166	148	154		618	-7.2	0.3	12	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT73	NM_175068.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		206/541	53009994	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	319101			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.618G>A	12.37:g.53009994C>T			Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																				0.607	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		T	53009994	C	T	53009994	2	4	573	1	0	0	0	0	0	0	0	1	8488	639	23	1		1	KRT73	12	53009994	Silent	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	8227734	53009994	80841901	58	31237											
PCBP2	5094	hgsc.bcm.edu;ucsc.edu	37	12	53865471	53865471	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr12:53865471G>A	ENST00000439930.3	+	13	963	c.941G>A	c.(940-942)cGt>cAt	p.R314H	PCBP2_ENST00000552296.2_Missense_Mutation_p.R310H|PCBP2_ENST00000455667.3_Missense_Mutation_p.R267H|PCBP2_ENST00000552819.1_Missense_Mutation_p.R271H|PCBP2_ENST00000603815.1_Missense_Mutation_p.R314H|PCBP2_ENST00000447282.1_Missense_Mutation_p.R284H|PCBP2_ENST00000549863.1_Missense_Mutation_p.R270H|PCBP2_ENST00000359282.5_Missense_Mutation_p.R280H|PCBP2_ENST00000359462.5_Missense_Mutation_p.R315H|PCBP2_ENST00000437231.1_Missense_Mutation_p.R267H|PCBP2_ENST00000548933.1_Missense_Mutation_p.R284H|PCBP2_ENST00000546463.1_Missense_Mutation_p.R311H			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	314	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AATGAGATCCGTCAGATGTCT	0.493																																																0													67	55	59					12																	53865471		2203	4300	6503	SO:0001583	missense	5094			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.941G>A	12.37:g.53865471G>A	ENSP00000408949:p.Arg314His		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655600	0.67586	.	.	ENSG00000197111	ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.12	4.24	0.50183	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	H	0.95982	3.75	0.54753	D	0.999986	B;B;B;B;B;P;B;B;B;B	0.36753	0.001;0.411;0.08;0.127;0.194;0.568;0.201;0.08;0.08;0.24	B;B;B;B;B;B;B;B;B;B	0.39465	0.002;0.3;0.114;0.046;0.24;0.16;0.102;0.062;0.114;0.114	T	0.68044	-0.5513	10	0.87932	D	0	.	12.6068	0.56527	0.0816:0.0:0.9184:0.0	.	271;272;314;257;284;267;310;280;315;311	B4DXP5;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	H	280;284;267;314;270;315;257;311;310;272;271;267;284;231;144	ENSP00000352228:R280H;ENSP00000394116:R284H;ENSP00000390304:R267H;ENSP00000408949:R314H;ENSP00000447670:R270H;ENSP00000352438:R315H;ENSP00000448762:R311H;ENSP00000448927:R310H;ENSP00000449070:R271H;ENSP00000388008:R267H;ENSP00000449062:R284H	ENSP00000352228:R280H	R	+	2	0	PCBP2	52151738	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.738000	0.84966	1.396000	0.46663	0.650000	0.86243	CGT		0.493	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		A	53865471	G	A	53865471	3	1	573	1	0	0	0	0	1	0	0	0	11503	1145	40	1	994	1	PCBP2	12	53865471	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	855477	53865471	79986424	59	31238											
TPH2	121278	hgsc.bcm.edu;ucsc.edu	37	12	72425132	72425132	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr12:72425132T>G	ENST00000333850.3	+	10	1400	c.1259T>G	c.(1258-1260)tTt>tGt	p.F420C		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	420					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GAAGCCTACTTTGTTTCAGAA	0.393																																																0													107	113	111					12																	72425132		2203	4300	6503	SO:0001583	missense	121278			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1259T>G	12.37:g.72425132T>G	ENSP00000329093:p.Phe420Cys		A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799415	0.70567	.	.	ENSG00000139287	ENST00000333850	D	0.99857	-7.22	5.43	5.43	0.79202	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96142	0.9101	10	0.87932	D	0	-20.8662	15.7608	0.78080	0.0:0.0:0.0:1.0	.	420	Q8IWU9	TPH2_HUMAN	C	420	ENSP00000329093:F420C	ENSP00000329093:F420C	F	+	2	0	TPH2	70711399	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.997000	0.88414	2.187000	0.69744	0.402000	0.26972	TTT		0.393	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		G	72425132	T	G	72425132	3	3	573	1	0	0	0	0	1	0	0	0	16407	1841	64	5	1297	5	TPH2	12	72425132	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	18559661	72425132	61426763	60	31239											
ARL1	400	hgsc.bcm.edu;ucsc.edu	37	12	101790252	101790252	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr12:101790252G>C	ENST00000261636.8	-	5	614	c.440C>G	c.(439-441)gCc>gGc	p.A147G	ARL1_ENST00000551688.1_Missense_Mutation_p.A18G|ARL1_ENST00000539055.1_Missense_Mutation_p.A101G|ARL1_ENST00000536227.1_Missense_Mutation_p.A130G|ARL1_ENST00000551828.1_Missense_Mutation_p.A130G|ARL1_ENST00000551671.1_Missense_Mutation_p.A147G	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	147					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		GTCCTTCAAGGCAGGTAACCC	0.463																																																0													207	203	204					12																	101790252		1979	4156	6135	SO:0001583	missense	400			BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"ADP-ribosylation factors-like", "ADP-ribosylation factors"	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.440C>G	12.37:g.101790252G>C	ENSP00000261636:p.Ala147Gly		B4DWW1|P80417|Q53XB1	Missense_Mutation	SNP	ENST00000261636.8	37	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439456	0.63067	.	.	ENSG00000120805	ENST00000261636;ENST00000539055;ENST00000536227;ENST00000551688;ENST00000551828;ENST00000551671	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.8	5.8	0.92144	Small GTP-binding protein domain (1);	0.050378	0.85682	D	0.000000	T	0.56202	0.1969	L	0.32530	0.975	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.001;0.001;0.004	T	0.49698	-0.8912	10	0.52906	T	0.07	-17.3365	20.0545	0.97645	0.0:0.0:1.0:0.0	.	101;147;147	B4DZG7;F8VYN9;P40616	.;.;ARL1_HUMAN	G	147;101;130;18;130;147	ENSP00000261636:A147G;ENSP00000439590:A101G;ENSP00000441808:A130G;ENSP00000447405:A18G;ENSP00000448850:A130G;ENSP00000448912:A147G	ENSP00000261636:A147G	A	-	2	0	ARL1	100314383	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.608000	0.67654	2.748000	0.94277	0.655000	0.94253	GCC		0.463	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177		C	101790252	G	C	101790252	3	2	573	1	0	0	0	0	1	0	0	0	925	1203	42	4	113	4	ARL1	12	101790252	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	29365120	101790252	32061643	61	31240											
EP400	57634	hgsc.bcm.edu	37	12	132505639	132505639	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr12:132505639T>C	ENST00000333577.4	+	24	4680	c.4571T>C	c.(4570-4572)tTt>tCt	p.F1524S	EP400_ENST00000389561.2_Missense_Mutation_p.F1488S|EP400_ENST00000332482.4_Missense_Mutation_p.F1451S|EP400_ENST00000330386.6_Intron|EP400_ENST00000389562.2_Missense_Mutation_p.F1487S			Q96L91	EP400_HUMAN	E1A binding protein p400	1524					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGCCCCGTTTCAGACCTCT	0.512																																																0													36	43	41					12																	132505639		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4571T>C	12.37:g.132505639T>C	ENSP00000333602:p.Phe1524Ser		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	T	11.87	1.767518	0.31320	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000541296	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.51	4.78	1.59	0.23543	.	0.894418	0.09580	N	0.782960	D	0.83036	0.5167	L	0.51422	1.61	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.11329	0.006;0.006	T	0.69075	-0.5241	10	0.22109	T	0.4	.	5.2416	0.15475	0.0:0.1204:0.1664:0.7132	.	1488;1487	Q96L91-2;Q96L91-5	.;.	S	1524;1488;1487;1451;1488	ENSP00000333602:F1524S;ENSP00000374212:F1488S;ENSP00000374213:F1487S;ENSP00000331737:F1451S	ENSP00000331737:F1451S	F	+	2	0	EP400	131071592	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.429000	0.34903	0.127000	0.18452	0.459000	0.35465	TTT		0.512	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		C	132505639	T	C	132505639	3	2	573	1	0	0	0	0	1	0	0	0	5151	1841	64	3	4546	3	EP400	12	132505639	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	30715387	132505639	1346256	62	31241											
EML5	161436	hgsc.bcm.edu;ucsc.edu	37	14	89128141	89128141	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr14:89128141C>A	ENST00000380664.5	-	25	3531	c.3532G>T	c.(3532-3534)Gta>Tta	p.V1178L	EML5_ENST00000352093.5_Missense_Mutation_p.V1140L|EML5_ENST00000554922.1_Missense_Mutation_p.V1178L			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1178						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAACCAAGTACACTTGTCCAT	0.373																																																0													53	50	51					14																	89128141		1844	4087	5931	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3532G>T	14.37:g.89128141C>A	ENSP00000370039:p.Val1178Leu		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684667	0.88639	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.52983	0.9;0.64;0.94	4.42	4.42	0.53409	.	0.000000	0.64402	D	0.000002	T	0.70789	0.3264	M	0.84156	2.68	0.54753	D	0.99998	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.992	T	0.73304	-0.4025	10	0.39692	T	0.17	-10.7495	17.2287	0.86978	0.0:1.0:0.0:0.0	.	1178;1178	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	L	1178;1140;1178	ENSP00000451998:V1178L;ENSP00000298315:V1140L;ENSP00000370039:V1178L	ENSP00000298315:V1140L	V	-	1	0	EML5	88197894	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.320000	0.79064	2.284000	0.76573	0.460000	0.39030	GTA		0.373	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			A	89128141	C	A	89128141	3	1	573	1	0	0	0	0	1	0	0	0	5102	478	17	4	2477	4	EML5	14	89128141	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10		89128141	18221399	63	31242											
HERC2	8924	hgsc.bcm.edu	37	15	28366558	28366558	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr15:28366558T>G	ENST00000261609.7	-	86	13314	c.13206A>C	c.(13204-13206)aaA>aaC	p.K4402N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTGTACTACTTTCCGGAAAG	0.448																																																0													119	112	115					15																	28366558		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13206A>C	15.37:g.28366558T>G	ENSP00000261609:p.Lys4402Asn			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.373662	0.42105	.	.	ENSG00000128731	ENST00000261609	T	0.41065	1.01	5.52	0.646	0.17789	.	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.57929	-0.7726	10	0.87932	D	0	.	10.6869	0.45848	0.0:0.4247:0.0:0.5753	.	4402	O95714	HERC2_HUMAN	N	4402	ENSP00000261609:K4402N	ENSP00000261609:K4402N	K	-	3	2	HERC2	26040153	0.996000	0.38824	0.154000	0.22540	0.142000	0.21351	0.373000	0.20484	-0.141000	0.11374	-0.250000	0.11733	AAA		0.448	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28366558	T	G	28366558	3	3	573	1	0	0	0	0	1	0	0	0	7060	1606	56	5	1330	5	HERC2	15	28366558	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10		28366558	74164834	64	31243											
SPRED1	161742	hgsc.bcm.edu;ucsc.edu	37	15	38632059	38632059	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr15:38632059A>G	ENST00000299084.4	+	5	1405	c.545A>G	c.(544-546)aAt>aGt	p.N182S		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	182					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GAAGATCTGAATGCCAGAAGA	0.378									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)											0													96	95	95					15																	38632059		2200	4297	6497	SO:0001583	missense	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.545A>G	15.37:g.38632059A>G	ENSP00000299084:p.Asn182Ser		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.277078	0.23307	.	.	ENSG00000166068	ENST00000299084	T	0.72394	-0.65	4.64	2.3	0.28687	.	0.522358	0.21958	N	0.066622	T	0.54615	0.1869	L	0.31065	0.9	0.24318	N	0.995054	P	0.50443	0.935	P	0.45753	0.492	T	0.49615	-0.8921	10	0.08599	T	0.76	-8.063	7.6327	0.28249	0.8287:0.0:0.1713:0.0	.	182	Q7Z699	SPRE1_HUMAN	S	182	ENSP00000299084:N182S	ENSP00000299084:N182S	N	+	2	0	SPRED1	36419351	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.618000	0.46393	0.252000	0.21531	-0.361000	0.07541	AAT		0.378	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			G	38632059	A	G	38632059	3	3	573	1	0	0	0	0	1	0	0	0	15097	101	4	3	563	3	SPRED1	15	38632059	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	10265501	38632059	63899333	65	31244											
SECISBP2L	9728	hgsc.bcm.edu;ucsc.edu	37	15	49284777	49284777	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr15:49284777T>A	ENST00000559471.1	-	18	3233	c.2970A>T	c.(2968-2970)gaA>gaT	p.E990D	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E945D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	990							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						catcttcttcttcttcAAGCA	0.458																																																0													76	73	74					15																	49284777		2197	4295	6492	SO:0001583	missense	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2970A>T	15.37:g.49284777T>A	ENSP00000453854:p.Glu990Asp		Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760357	0.69763	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.75938	-0.98	5.19	2.88	0.33553	.	0.000000	0.85682	D	0.000000	T	0.74794	0.3763	L	0.29908	0.895	0.37000	D	0.895238	D;D	0.71674	0.997;0.998	D;D	0.77557	0.978;0.99	T	0.74833	-0.3530	10	0.49607	T	0.09	.	7.1633	0.25677	0.0:0.3456:0.0:0.6544	.	990;945	Q93073;Q93073-2	SBP2L_HUMAN;.	D	945;990	ENSP00000261847:E945D	ENSP00000261847:E945D	E	-	3	2	SECISBP2L	47072069	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.591000	0.36665	0.444000	0.26612	0.533000	0.62120	GAA		0.458	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		A	49284777	T	A	49284777	3	1	573	1	0	0	0	0	1	0	0	0	14013	1606	56	5	339	5	SECISBP2L	15	49284777	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	10652718	49284777	53246615	66	31245											
TBC1D21	161514	hgsc.bcm.edu;ucsc.edu	37	15	74174089	74174089	+	Splice_Site	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr15:74174089G>A	ENST00000300504.2	+	3	355		c.e3+1		TBC1D21_ENST00000535547.2_Splice_Site|TBC1D21_ENST00000562056.1_Splice_Site	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21							acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						GCATGAGGAGGTAGAACACTC	0.602																																																0													37	36	36					15																	74174089		2198	4297	6495	SO:0001630	splice_region_variant	161514			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.272+1G>A	15.37:g.74174089G>A			B9A6M2	Splice_Site	SNP	ENST00000300504.2	37	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516354	0.64634	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3201	0.54979	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D21	71961142	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.724000	0.61972	2.279000	0.76181	0.563000	0.77884	.		0.602	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356	Intron	A	74174089	G	A	74174089	5	1	573	1	0	0	0	0	0	0	1	0	15615	1275	44	2	283	2	TBC1D21	15	74174089	Splice_Site	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	24889312	74174089	28357303	67	31246											
ARNT2	9915	hgsc.bcm.edu;ucsc.edu	37	15	80762590	80762590	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr15:80762590C>T	ENST00000303329.4	+	4	391	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	ARNT2_ENST00000527771.1_Missense_Mutation_p.R65W|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000533983.1_Missense_Mutation_p.R65W	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	76	Poly-Arg.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AAGGCGCAGACGGAACAAGAT	0.502																																																0													78	67	71					15																	80762590		2203	4300	6503	SO:0001583	missense	9915			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.226C>T	15.37:g.80762590C>T	ENSP00000307479:p.Arg76Trp		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561062	0.65538	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	D	0.99232	-5.6	5.0	1.73	0.24493	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98336	1.0536	10	0.87932	D	0	.	12.7927	0.57543	0.678:0.322:0.0:0.0	.	76;76	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	W	65;76;76	ENSP00000307479:R76W	ENSP00000307479:R76W	R	+	1	2	ARNT2	78549645	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	2.417000	0.44653	0.655000	0.30866	0.650000	0.86243	CGG		0.502	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			T	80762590	C	T	80762590	3	4	573	1	0	0	0	0	1	0	0	0	966	527	19	1	240	1	ARNT2	15	80762590	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	6588501	80762590	21768802	68	31247											
SMG1	23049	hgsc.bcm.edu;ucsc.edu	37	16	18844384	18844384	+	Silent	SNP	A	A	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr16:18844384A>T	ENST00000446231.2	-	51	9082	c.8670T>A	c.(8668-8670)ctT>ctA	p.L2890L	SMG1_ENST00000389467.3_Silent_p.L2890L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2890					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCTGCTCAATAAGACCGTCCA	0.448																																																0													203	194	197					16																	18844384		1936	4132	6068	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8670T>A	16.37:g.18844384A>T			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																				0.448	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		T	18844384	A	T	18844384	2	4	573	1	0	0	0	0	0	0	0	1	14801	349	13	5		5	SMG1	16	18844384	Silent	SNP	A	TCGA-CZ-4857-01A-01D-1373-10		18844384	71510369	69	31248											
TBC1D10B	26000	hgsc.bcm.edu	37	16	30370551	30370551	+	Silent	SNP	G	G	A	rs113035492		TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr16:30370551G>A	ENST00000409939.3	-	7	1664	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	528	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GGGTGCGGGCGAAGATGCACA	0.642																																																0													32	30	31					16																	30370551		2197	4298	6495	SO:0001819	synonymous_variant	26000			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1584C>T	16.37:g.30370551G>A			B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Silent	SNP	ENST00000409939.3	37	CCDS10676.2																																																																																				0.642	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		A	30370551	G	A	30370551	2	1	573	1	0	0	0	0	0	0	0	1	15604	1049	37	1		1	TBC1D10B	16	30370551	Silent	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	11526167	30370551	59984202	70	31249											
FAM92B	339145	hgsc.bcm.edu;ucsc.edu	37	16	85135890	85135890	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr16:85135890G>A	ENST00000539556.1	-	7	736	c.581C>T	c.(580-582)gCc>gTc	p.A194V		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	194										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CACCGCTTTGGCATGGAAAAC	0.473																																																0													93	88	90					16																	85135890		2198	4300	6498	SO:0001583	missense	339145				CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.581C>T	16.37:g.85135890G>A	ENSP00000443411:p.Ala194Val			Missense_Mutation	SNP	ENST00000539556.1	37	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044850	0.75732	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.60171	0.21	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	T	0.76550	0.4003	M	0.83603	2.65	0.39786	D	0.972368	D	0.76494	0.999	D	0.73380	0.98	T	0.80306	-0.1438	10	0.72032	D	0.01	-36.5122	13.1321	0.59389	0.0:0.1606:0.8394:0.0	.	194	Q6ZTR7	FA92B_HUMAN	V	194	ENSP00000443411:A194V	ENSP00000376937:A194V	A	-	2	0	FAM92B	83693391	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	5.033000	0.64146	2.745000	0.94114	0.555000	0.69702	GCC		0.473	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		A	85135890	G	A	85135890	3	1	573	1	0	0	0	0	1	0	0	0	5655	1203	42	2	345	2	FAM92B	16	85135890	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	54765339	85135890	5218863	71	31250											
ASPA	443	hgsc.bcm.edu;ucsc.edu	37	17	3392558	3392558	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr17:3392558G>C	ENST00000263080.2	+	4	714	c.556G>C	c.(556-558)Gtt>Ctt	p.V186L	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.V186L	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	186			V -> F (in CAND). {ECO:0000269|PubMed:10407784}.		aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	GCCTCAAGGGGTTCTGAGAGC	0.313																																																0			GRCh37	CM990194	ASPA	M							120	127	125					17																	3392558		2203	4299	6502	SO:0001583	missense	443			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.556G>C	17.37:g.3392558G>C	ENSP00000263080:p.Val186Leu			Missense_Mutation	SNP	ENST00000263080.2	37	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	g	35	5.459548	0.96240	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97870	-4.58;-4.58	5.75	5.75	0.90469	.	0.169669	0.52532	D	0.000078	D	0.98055	0.9359	M	0.62016	1.91	0.80722	D	1	D	0.76494	0.999	P	0.59012	0.85	D	0.97502	1.0061	10	0.38643	T	0.18	-31.8027	19.319	0.94229	0.0:0.0:1.0:0.0	.	186	P45381	ACY2_HUMAN	L	186	ENSP00000409976:V186L;ENSP00000263080:V186L	ENSP00000263080:V186L	V	+	1	0	ASPA	3339308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.115000	0.94336	2.894000	0.99253	0.655000	0.94253	GTT		0.313	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		C	3392558	G	C	3392558	3	2	573	1	0	0	0	0	1	0	0	0	1050	1261	44	4	570	4	ASPA	17	3392558	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10		3392558	77802652	72	31251											
LLGL1	3996	hgsc.bcm.edu	37	17	18136083	18136083	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr17:18136083A>G	ENST00000316843.4	+	4	455	c.359A>G	c.(358-360)cAg>cGg	p.Q120R		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	120					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CTCAGTTTCCAGCTGCCCAGC	0.627																																																0													70	71	71					17																	18136083		2203	4300	6503	SO:0001583	missense	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.359A>G	17.37:g.18136083A>G	ENSP00000321537:p.Gln120Arg		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	A	8.569	0.879630	0.17467	.	.	ENSG00000131899	ENST00000316843	T	0.05382	3.45	5.33	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.720518	0.13648	N	0.372491	T	0.03783	0.0107	N	0.19112	0.55	0.20873	N	0.999831	B	0.22604	0.072	B	0.15870	0.014	T	0.42464	-0.9450	10	0.15952	T	0.53	-19.9686	5.4826	0.16731	0.661:0.0:0.0847:0.2543	.	120	Q15334	L2GL1_HUMAN	R	120	ENSP00000321537:Q120R	ENSP00000321537:Q120R	Q	+	2	0	LLGL1	18076808	0.038000	0.19896	0.999000	0.59377	0.681000	0.39784	0.215000	0.17562	2.168000	0.68352	0.477000	0.44152	CAG		0.627	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			G	18136083	A	G	18136083	3	3	573	1	0	0	0	0	1	0	0	0	8835	188	7	3	373	3	LLGL1	17	18136083	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	14743525	18136083	63059127	73	31252											
GIT1	28964	hgsc.bcm.edu	37	17	27902653	27902656	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	CAGT	CAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr17:27902653_27902656delCAGT	ENST00000225394.3	-	17	2066_2069	c.1818_1821delACTG	c.(1816-1821)ccactgfs	p.PL606fs	GIT1_ENST00000581348.1_Frame_Shift_Del_p.PL592fs|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.PL615fs|GIT1_ENST00000579937.1_Frame_Shift_Del_p.PL606fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	606					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CTCACCCCAGCAGTGGGTCCCCAC	0.672																																					Colon(81;41 1719 20078 35068)											0																																										SO:0001589	frameshift_variant	28964			AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1818_1821delACTG	17.37:g.27902653_27902656delCAGT	ENSP00000225394:p.Pro606fs		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Frame_Shift_Del	DEL	ENST00000225394.3	37	CCDS11250.1																																																																																				0.672	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		-	27902656	CAGT	-	27902653	7	5	573	1	0	1	0	1	0	0	0	0	6398	697	25	0	480	0	GIT1	17	27902653	Frame_Shift_Del	DEL	CAGT	TCGA-CZ-4857-01A-01D-1373-10	9766570	27902653	53292557	74	31253											
EPN3	55040	hgsc.bcm.edu;ucsc.edu	37	17	48618639	48618639	+	Silent	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr17:48618639G>A	ENST00000268933.3	+	8	1878	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	EPN3_ENST00000537145.1_Silent_p.E461E|EPN3_ENST00000541226.1_3'UTR|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	433						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AATCCACAGAGACCAAGGAGG	0.607																																																0													154	162	159					17																	48618639		2203	4300	6503	SO:0001819	synonymous_variant	55040			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1299G>A	17.37:g.48618639G>A			A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	CCDS11570.1																																																																																				0.607	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		A	48618639	G	A	48618639	2	1	573	1	0	0	0	0	0	0	0	1	5189	933	33	2		2	EPN3	17	48618639	Silent	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	20715986	48618639	32576571	75	31254											
MYO5B	4645	hgsc.bcm.edu;ucsc.edu	37	18	47369724	47369724	+	Missense_Mutation	SNP	G	G	T	rs67244969		TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr18:47369724G>T	ENST00000285039.7	-	34	4797	c.4498C>A	c.(4498-4500)Ctc>Atc	p.L1500I	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.L615I|MYO5B_ENST00000592688.1_Missense_Mutation_p.L70I	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1500					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TAGGCGGGGAGACAGGGCACT	0.562																																																0																																										SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4498C>A	18.37:g.47369724G>T	ENSP00000285039:p.Leu1500Ile		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288713	0.95517	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.30714	1.52;1.52	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000002	T	0.53562	0.1804	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.961;0.996	T	0.45249	-0.9274	10	0.35671	T	0.21	.	18.3406	0.90304	0.0:0.0:1.0:0.0	.	1500;615	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	I	1500;615	ENSP00000285039:L1500I;ENSP00000315531:L615I	ENSP00000285039:L1500I	L	-	1	0	MYO5B	45623722	1.000000	0.71417	0.931000	0.37212	0.982000	0.71751	6.477000	0.73591	2.724000	0.93272	0.561000	0.74099	CTC		0.562	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			T	47369724	G	T	47369724	3	4	573	1	0	0	0	0	1	0	0	0	10081	942	33	4	1076	4	MYO5B	18	47369724	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10		47369724	30707524	76	31255											
ADAMTS10	81794	hgsc.bcm.edu	37	19	8660979	8660979	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr19:8660979C>T	ENST00000597188.1	-	11	1585	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.D439N|ADAMTS10_ENST00000596709.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	439	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTGATGTAGTCACGGCTGCAG	0.577																																																0													105	101	103					19																	8660979		2203	4300	6503	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1315G>A	19.37:g.8660979C>T	ENSP00000471851:p.Asp439Asn		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684839	0.88639	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.08896	3.04	4.27	4.27	0.50696	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	N	0.12443	0.215	0.80722	D	1	P;D	0.69078	0.637;0.997	B;D	0.73380	0.173;0.98	T	0.35500	-0.9786	10	0.33141	T	0.24	.	15.862	0.79032	0.0:1.0:0.0:0.0	.	193;439	Q59FE5;Q9H324	.;ATS10_HUMAN	N	439;193	ENSP00000270328:D439N	ENSP00000270328:D439N	D	-	1	0	ADAMTS10	8566979	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	7.298000	0.78815	2.205000	0.71048	0.313000	0.20887	GAC		0.577	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		T	8660979	C	T	8660979	3	4	573	1	0	0	0	0	1	0	0	0	256	826	29	2	2060	2	ADAMTS10	19	8660979	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10		8660979	50468004	77	31256											
NOTCH3	4854	hgsc.bcm.edu	37	19	15298776	15298776	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr19:15298776C>T	ENST00000263388.2	-	10	1597	c.1522G>A	c.(1522-1524)Gtg>Atg	p.V508M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	508	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATTCGTCCACGTCCAGCTGA	0.667																																																0													24	18	20					19																	15298776		1903	3583	5486	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1522G>A	19.37:g.15298776C>T	ENSP00000263388:p.Val508Met		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	c	17.67	3.445958	0.63178	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87491	-2.26	5.0	3.97	0.46021	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81403	0.4815	M	0.64170	1.965	0.43372	D	0.995464	D;P	0.53151	0.958;0.894	B;B	0.38458	0.265;0.274	T	0.82478	-0.0437	9	0.72032	D	0.01	.	5.7658	0.18225	0.0:0.7353:0.0:0.2647	.	511;508	Q59FL3;Q9UM47	.;NOTC3_HUMAN	M	508;510	ENSP00000263388:V508M	ENSP00000263388:V508M	V	-	1	0	NOTCH3	15159776	1.000000	0.71417	0.987000	0.45799	0.758000	0.43043	2.591000	0.46163	2.328000	0.79073	0.461000	0.40582	GTG		0.667	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		T	15298776	C	T	15298776	3	4	573	1	0	0	0	0	1	0	0	0	10552	536	19	1	5539	1	NOTCH3	19	15298776	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	6637797	15298776	43830207	78	31257											
OR10H2	26538	hgsc.bcm.edu;ucsc.edu	37	19	15839750	15839750	+	Missense_Mutation	SNP	G	G	T	rs368109893		TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr19:15839750G>T	ENST00000305899.3	+	1	917	c.897G>T	c.(895-897)aaG>aaT	p.K299N		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					AAGAACTGAAGGTTGCCATGA	0.537																																																0													85	75	78					19																	15839750		2203	4300	6503	SO:0001583	missense	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.897G>T	19.37:g.15839750G>T	ENSP00000306095:p.Lys299Asn		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	1.652	-0.513783	0.04200	.	.	ENSG00000171942	ENST00000305899	T	0.40756	1.02	3.39	-0.178	0.13303	.	0.000000	0.50627	D	0.000110	T	0.36853	0.0982	M	0.75615	2.305	0.09310	N	1	B	0.21606	0.058	B	0.27076	0.076	T	0.39921	-0.9590	10	0.72032	D	0.01	.	2.6802	0.05091	0.2211:0.0:0.358:0.4209	.	299	O60403	O10H2_HUMAN	N	299	ENSP00000306095:K299N	ENSP00000306095:K299N	K	+	3	2	OR10H2	15700750	0.003000	0.15002	0.012000	0.15200	0.010000	0.07245	0.318000	0.19504	0.003000	0.14656	-1.854000	0.00565	AAG		0.537	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			T	15839750	G	T	15839750	3	4	573	1	0	0	0	0	1	0	0	0	10908	991	35	4	899	4	OR10H2	19	15839750	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	540974	15839750	43289233	79	31258											
FAM129C	199786	hgsc.bcm.edu	37	19	17662616	17662616	+	Intron	SNP	G	G	A	rs76629753	byFrequency	TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr19:17662616G>A	ENST00000335393.4	+	16	1981				FAM129C_ENST00000352727.3_Missense_Mutation_p.R586Q|FAM129C_ENST00000600871.1_Missense_Mutation_p.R540Q|FAM129C_ENST00000332386.5_Missense_Mutation_p.R622Q|FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.R555Q|FAM129C_ENST00000599164.1_Missense_Mutation_p.R591Q|FAM129C_ENST00000449408.2_Intron	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						gaggctgagcgggaaggaggg	0.507													g|||	308	0.0615016	0.0885	0.0418	5008	,	,		14475	0.0317		0.0417	False		,,,				2504	0.09															0								G	GLN/ARG,	258,3488		12,234,1627	40	43	42		1865,	0.6	0.1	19	dbSNP_131	42	440,7782		11,418,3682	yes	missense,intron	FAM129C	NM_001098524.1,NM_173544.4	43,	23,652,5309	AA,AG,GG		5.3515,6.8873,5.8322	,	622/652,	17662616	698,11270	1873	4111	5984	SO:0001627	intron_variant	199786			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1844-1506G>A	19.37:g.17662616G>A			B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	CCDS12362.1	102	0.046703296703296704	34	0.06910569105691057	17	0.04696132596685083	19	0.033216783216783216	32	0.04221635883905013	G	3.985	-0.005567	0.07773	0.068873	0.053515	ENSG00000167483	ENST00000332386;ENST00000352727;ENST00000435646	T;T	0.26223	2.14;1.75	0.649	0.649	0.17806	.	.	.	.	.	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	P;P;P	0.45672	0.658;0.864;0.864	B;B;B	0.32724	0.107;0.151;0.151	T	0.18241	-1.0343	8	0.62326	D	0.03	.	.	.	.	.	540;622;586	E7ENP6;Q86XR2-3;Q86XR2-4	.;.;.	Q	622;586;540	ENSP00000333447:R622Q;ENSP00000341067:R586Q	ENSP00000333447:R622Q	R	+	2	0	FAM129C	17523616	0.062000	0.20869	0.051000	0.19133	0.016000	0.09150	0.342000	0.19926	0.598000	0.29829	0.462000	0.41574	CGG		0.507	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		A	17662616	G	A	17662616	1	1	573	0	1	0	0	0	0	0	0	0	5440	1116	39	1		1	FAM129C	19	17662616	Intron	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	1822866	17662616	41466367	80	31259											
FCGRT	2217	hgsc.bcm.edu	37	19	50017140	50017140	+	Splice_Site	SNP	A	A	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr19:50017140A>C	ENST00000221466.5	+	3	561	c.75A>C	c.(73-75)gaA>gaC	p.E25D	FCGRT_ENST00000426395.3_Splice_Site_p.E25D|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Splice_Site_p.E25D|FCGRT_ENST00000594823.1_3'UTR	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	25	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TGTCTGCAGAAAGCCACCTCT	0.622																																																0													182	180	180					19																	50017140		2203	4300	6503	SO:0001630	splice_region_variant	2217			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.74-1A>C	19.37:g.50017140A>C			Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.922305	0.52653	.	.	ENSG00000104870	ENST00000221466;ENST00000426395;ENST00000415900;ENST00000452439	T;T	0.00760	5.73;5.73	4.6	-6.63	0.01807	MHC classes I/II-like antigen recognition protein (1);	1.333190	0.05462	N	0.551500	T	0.00524	0.0017	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51156	-0.8741	10	0.87932	D	0	.	9.2532	0.37568	0.1647:0.587:0.2483:0.0	.	25	P55899	FCGRN_HUMAN	D	25	ENSP00000221466:E25D;ENSP00000410798:E25D	ENSP00000221466:E25D	E	+	3	2	FCGRT	54708952	0.002000	0.14202	0.000000	0.03702	0.609000	0.37215	-0.496000	0.06436	-0.841000	0.04200	-1.162000	0.01777	GAA		0.622	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1		Missense_Mutation	C	50017140	A	C	50017140	5	2	573	1	0	0	0	0	0	0	1	0	5788	28	1	5	81	5	FCGRT	19	50017140	Splice_Site	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	32354524	50017140	9111843	81	31260											
MED25	81857	hgsc.bcm.edu	37	19	50333063	50333063	+	Silent	SNP	T	T	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr19:50333063T>C	ENST00000312865.6	+	6	599	c.546T>C	c.(544-546)atT>atC	p.I182I	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	182	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACTTCTCCATTGTGTCTCCCC	0.657																																					GBM(51;894 1657 37868)											0													13	12	12					19																	50333063		2201	4297	6498	SO:0001819	synonymous_variant	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.546T>C	19.37:g.50333063T>C			A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Silent	SNP	ENST00000312865.6	37	CCDS33075.1																																																																																				0.657	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		C	50333063	T	C	50333063	2	2	573	1	0	0	0	0	0	0	0	1	9445	1800	63	3		3	MED25	19	50333063	Silent	SNP	T	TCGA-CZ-4857-01A-01D-1373-10	315923	50333063	8795920	82	31261											
ZNF473	25888	hgsc.bcm.edu;ucsc.edu	37	19	50550173	50550173	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr19:50550173C>G	ENST00000595661.1	+	6	2968	c.2473C>G	c.(2473-2475)Ctc>Gtc	p.L825V	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.L825V|ZNF473_ENST00000445728.3_Missense_Mutation_p.L813V|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.L825V			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	825					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGCTTTTGTCCTCAGTGCCCA	0.507											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													81	80	80					19																	50550173		2203	4300	6503	SO:0001583	missense	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2473C>G	19.37:g.50550173C>G	ENSP00000472808:p.Leu825Val	970	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	0.090	-1.168521	0.01660	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.08720	3.06;3.06;3.06	4.38	-6.11	0.02131	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.478840	0.15107	N	0.280180	T	0.03305	0.0096	N	0.16743	0.435	0.09310	N	1	B	0.31485	0.325	B	0.28385	0.089	T	0.41627	-0.9498	10	0.17369	T	0.5	-3.4304	7.7864	0.29095	0.0:0.3563:0.1131:0.5306	.	825	Q8WTR7	ZN473_HUMAN	V	825;825;813	ENSP00000270617:L825V;ENSP00000375697:L825V;ENSP00000388961:L813V	ENSP00000270617:L825V	L	+	1	0	ZNF473	55241985	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.997000	0.03705	-1.097000	0.03042	-0.140000	0.14226	CTC		0.507	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		G	50550173	C	G	50550173	3	3	573	1	0	0	0	0	1	0	0	0	17936	681	24	4	2487	4	ZNF473	19	50550173	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	217110	50550173	8578810	83	31262											
C19orf63	284361	hgsc.bcm.edu	37	19	50985427	50985427	+	Missense_Mutation	SNP	G	G	A	rs147229320	byFrequency	TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr19:50985427G>A	ENST00000334976.6	+	7	746	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	EMC10_ENST00000376918.3_3'UTR|EMC10_ENST00000598585.1_Missense_Mutation_p.V234I|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	234						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											CATTCCCGTCGTCCTGTTCCT	0.637													G|||	3	0.000599042	0.0008	0.0	5008	,	,		7065	0.002		0.0	False		,,,				2504	0.0															0								G	,ILE/VAL	0,4406		0,0,2203	79	52	61		,700	0.9	0.5	19	dbSNP_134	61	5,8595	4.3+/-15.6	0,5,4295	yes	utr-3,missense	C19orf63	NM_175063.4,NM_206538.2	,29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,probably-damaging	,234/263	50985427	5,13001	2203	4300	6503	SO:0001583	missense	0			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"hematopoietic signal peptide-containing secreted 1", "hematopoietic signal peptide-containing membrane domain-containing 1"	614545	"chromosome 19 open reading frame 63"	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.700G>A	19.37:g.50985427G>A	ENSP00000334037:p.Val234Ile		Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	ENST00000334976.6	37	CCDS12796.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	17.93	3.508876	0.64410	0.0	5.81E-4	ENSG00000161671	ENST00000334976;ENST00000376920	.	.	.	3.32	0.909	0.19332	.	0.327625	0.27354	N	0.019759	T	0.51193	0.1660	M	0.74881	2.28	0.80722	D	1	D;D	0.65815	0.995;0.979	P;P	0.46825	0.528;0.512	T	0.48007	-0.9072	9	0.40728	T	0.16	-4.055	6.528	0.22312	0.1177:0.1786:0.7038:0.0	.	234;234	Q5UCC4;Q5UCC4-3	INM02_HUMAN;.	I	234	.	ENSP00000334037:V234I	V	+	1	0	C19orf63	55677239	1.000000	0.71417	0.502000	0.27614	0.864000	0.49448	7.801000	0.85960	0.169000	0.19679	-0.378000	0.06908	GTC		0.637	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		A	50985427	G	A	50985427	3	1	573	1	0	0	0	0	1	0	0	0	1947	1145	40	1	817	1	C19orf63	19	50985427	Missense_Mutation	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	435254	50985427	8143556	84	31263											
SIGLEC10	89790	hgsc.bcm.edu;ucsc.edu	37	19	51920109	51920109	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr19:51920109A>C	ENST00000339313.5	-	3	633	c.517T>G	c.(517-519)Tgt>Ggt	p.C173G	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.C173G|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.C173G|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.C173G|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	173	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGGGTGGACATTCCTCAAAG	0.607																																																0													102	100	100					19																	51920109		2203	4300	6503	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.517T>G	19.37:g.51920109A>C	ENSP00000345243:p.Cys173Gly		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	0.641	-0.813212	0.02798	.	.	ENSG00000142512	ENST00000353836;ENST00000356298;ENST00000525998;ENST00000339313;ENST00000530476	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	4.69	1.17	0.20885	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.226724	0.32055	N	0.006647	T	0.62502	0.2433	N	0.13168	0.305	0.09310	N	1	P;B;B	0.49635	0.926;0.207;0.047	P;B;B	0.56563	0.801;0.122;0.012	T	0.53351	-0.8451	10	0.19590	T	0.45	.	5.0108	0.14312	0.4319:0.3974:0.0:0.1707	.	173;173;173	E9PL79;Q96LC7-2;Q96LC7	.;.;SIG10_HUMAN	G	173;173;173;173;140	ENSP00000342389:C173G;ENSP00000348646:C173G;ENSP00000431444:C173G;ENSP00000345243:C173G;ENSP00000433838:C140G	ENSP00000345243:C173G	C	-	1	0	SIGLEC10	56611921	0.000000	0.05858	0.019000	0.16419	0.015000	0.08874	0.694000	0.25512	0.631000	0.30412	0.260000	0.18958	TGT		0.607	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		C	51920109	A	C	51920109	3	2	573	1	0	0	0	0	1	0	0	0	14312	217	8	5	1612	5	SIGLEC10	19	51920109	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	934682	51920109	7208874	85	31264											
NLRP12	91662	hgsc.bcm.edu	37	19	54312936	54312936	+	Silent	SNP	G	G	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr19:54312936G>A	ENST00000324134.6	-	3	2145	c.1977C>T	c.(1975-1977)agC>agT	p.S659S	NLRP12_ENST00000354278.3_Silent_p.S659S|NLRP12_ENST00000345770.5_Silent_p.S659S|NLRP12_ENST00000391772.1_Silent_p.S659S|NLRP12_ENST00000535162.1_Silent_p.S659S|NLRP12_ENST00000391773.1_Silent_p.S659S|NLRP12_ENST00000351894.4_Silent_p.S659S|NLRP12_ENST00000391775.3_Silent_p.S659S	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	659					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCACCTGGGCGCTCCTGCAGC	0.627																																																0													53	49	50					19																	54312936		2203	4300	6503	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1977C>T	19.37:g.54312936G>A			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1																																																																																				0.627	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		A	54312936	G	A	54312936	2	1	573	1	0	0	0	0	0	0	0	1	10476	1078	38	1		1	NLRP12	19	54312936	Silent	SNP	G	TCGA-CZ-4857-01A-01D-1373-10	2392827	54312936	4816047	86	31265											
NDUFA3	4696	hgsc.bcm.edu	37	19	54610140	54610140	+	Missense_Mutation	SNP	C	C	G	rs144531279		TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr19:54610140C>G	ENST00000485876.1	+	4	228	c.186C>G	c.(184-186)aaC>aaG	p.N62K	NDUFA3_ENST00000391763.3_3'UTR|NDUFA3_ENST00000391762.1_3'UTR|NDUFA3_ENST00000303553.5_Missense_Mutation_p.N19K|NDUFA3_ENST00000391764.3_Intron			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	62			N -> D (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					ATGATGGGAACATGCCCGACG	0.652																																																0													28	29	28					19																	54610140		2203	4300	6503	SO:0001583	missense	4696			AF044955	CCDS12877.1	19q13.42	2011-07-04	2002-08-29		ENSG00000170906	ENSG00000170906		"Mitochondrial respiratory chain complex / Complex I"	7686	protein-coding gene	gene with protein product	"complex I B9 subunit"	603832	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 (9kD, B9)"			9878551	Standard	NM_004542		Approved	B9	uc002qde.3	O95167	OTTHUMG00000064972	ENST00000485876.1:c.186C>G	19.37:g.54610140C>G	ENSP00000418438:p.Asn62Lys			Missense_Mutation	SNP	ENST00000485876.1	37	CCDS12877.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899167	0.52227	.	.	ENSG00000170906	ENST00000485876;ENST00000417328	.	.	.	3.68	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.70928	0.3280	.	.	.	0.42608	D	0.993308	D	0.67145	0.996	D	0.75484	0.986	T	0.70824	-0.4767	8	0.49607	T	0.09	-20.4481	9.0905	0.36607	0.0:0.8909:0.0:0.1091	.	62	O95167	NDUA3_HUMAN	K	62	.	ENSP00000410363:N62K	N	+	3	2	NDUFA3	59301952	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	1.757000	0.38400	0.892000	0.36259	0.650000	0.86243	AAC		0.652	NDUFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139509.5	NM_004542		G	54610140	C	G	54610140	3	3	573	1	0	0	0	0	1	0	0	0	10267	477	17	4	200	4	NDUFA3	19	54610140	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	297204	54610140	4518843	87	31266											
TMX4	56255	hgsc.bcm.edu	37	20	7962927	7962927	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr20:7962927T>C	ENST00000246024.2	-	8	1236	c.1021A>G	c.(1021-1023)Aaa>Gaa	p.K341E		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	341					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TGCTGACTTTTACGCTGCCTC	0.502																																																0													80	72	75					20																	7962927		2203	4300	6503	SO:0001583	missense	56255				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.1021A>G	20.37:g.7962927T>C	ENSP00000246024:p.Lys341Glu		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708777	0.48517	.	.	ENSG00000125827	ENST00000246024	T	0.13657	2.57	5.84	4.72	0.59763	.	0.356550	0.29021	N	0.013400	T	0.13329	0.0323	L	0.53249	1.67	0.28353	N	0.920793	P	0.37525	0.598	B	0.32211	0.142	T	0.10660	-1.0620	10	0.87932	D	0	-13.2187	10.0969	0.42480	0.0:0.0:0.1685:0.8315	.	341	Q9H1E5	TMX4_HUMAN	E	341	ENSP00000246024:K341E	ENSP00000246024:K341E	K	-	1	0	TMX4	7910927	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	1.883000	0.39658	1.017000	0.39495	0.455000	0.32223	AAA		0.502	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		C	7962927	T	C	7962927	3	2	573	1	0	0	0	0	1	0	0	0	16274	1763	61	3	32	3	TMX4	20	7962927	Missense_Mutation	SNP	T	TCGA-CZ-4857-01A-01D-1373-10		7962927	55062593	88	31267											
MC3R	4159	hgsc.bcm.edu;ucsc.edu	37	20	54824473	54824473	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr20:54824473C>A	ENST00000243911.2	+	1	686	c.574C>A	c.(574-576)Ctc>Atc	p.L192I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	192					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CATTGTGTGCCTCATCACCAT	0.577																																																0													222	192	202					20																	54824473		2203	4300	6503	SO:0001583	missense	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.574C>A	20.37:g.54824473C>A	ENSP00000243911:p.Leu192Ile		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803762	0.90623	.	.	ENSG00000124089	ENST00000243911	T	0.38077	1.16	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.71108	0.3301	M	0.93507	3.425	0.58432	D	0.999992	D	0.76494	0.999	D	0.87578	0.998	T	0.80099	-0.1524	10	0.87932	D	0	.	18.4242	0.90604	0.0:1.0:0.0:0.0	.	229	P41968	MC3R_HUMAN	I	192	ENSP00000243911:L192I	ENSP00000243911:L192I	L	+	1	0	MC3R	54257880	1.000000	0.71417	0.972000	0.41901	0.998000	0.95712	4.750000	0.62162	2.430000	0.82344	0.555000	0.69702	CTC		0.577	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			A	54824473	C	A	54824473	3	1	573	1	0	0	0	0	1	0	0	0	9367	681	24	4	576	4	MC3R	20	54824473	Missense_Mutation	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	46861546	54824473	8201047	89	31268											
DGCR8	54487	hgsc.bcm.edu;ucsc.edu	37	22	20074764	20074764	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr22:20074764A>G	ENST00000351989.3	+	3	1229	c.800A>G	c.(799-801)tAt>tGt	p.Y267C	DGCR8_ENST00000383024.2_Missense_Mutation_p.Y267C|DGCR8_ENST00000407755.1_Missense_Mutation_p.Y267C|MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	267	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GAGGAAAAATATGGCGGAGAC	0.498																																																0													144	120	128					22																	20074764		2203	4300	6503	SO:0001583	missense	54487			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.800A>G	22.37:g.20074764A>G	ENSP00000263209:p.Tyr267Cys		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968475	0.74131	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.33216	1.45;1.42;1.42	5.93	4.84	0.62591	.	0.056146	0.64402	D	0.000001	T	0.43545	0.1252	L	0.51422	1.61	0.80722	D	1	D;D	0.65815	0.995;0.992	P;P	0.60415	0.874;0.751	T	0.24905	-1.0147	10	0.46703	T	0.11	-10.4597	11.7945	0.52090	0.8685:0.0:0.0:0.1315	.	267;267	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	C	267	ENSP00000263209:Y267C;ENSP00000372488:Y267C;ENSP00000384726:Y267C	ENSP00000263209:Y267C	Y	+	2	0	DGCR8	18454764	0.998000	0.40836	0.951000	0.38953	0.751000	0.42716	3.903000	0.56318	2.271000	0.75665	0.459000	0.35465	TAT		0.498	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			G	20074764	A	G	20074764	3	3	573	1	0	0	0	0	1	0	0	0	4466	449	16	3	806	3	DGCR8	22	20074764	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10		20074764	31229802	90	31269											
SGSM1	129049	hgsc.bcm.edu;ucsc.edu	37	22	25294340	25294340	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chr22:25294340A>T	ENST00000400359.4	+	20	2596	c.2589A>T	c.(2587-2589)gaA>gaT	p.E863D	SGSM1_ENST00000400358.4_Missense_Mutation_p.E808D|SNORD56_ENST00000362913.1_RNA	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	863	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCCTGCCTGAAAAGGACGATG	0.597																																																0													70	78	75					22																	25294340		2161	4258	6419	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2589A>T	22.37:g.25294340A>T	ENSP00000383212:p.Glu863Asp		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.530307	0.27387	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06849	3.26;3.25	5.24	-6.92	0.01644	Rab-GAP/TBC domain (2);	0.411752	0.25578	U	0.029704	T	0.04227	0.0117	N	0.16656	0.425	0.18873	N	0.999987	B;B;B;B	0.10296	0.0;0.003;0.001;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.001	T	0.28839	-1.0031	10	0.40728	T	0.16	-5.7014	13.0894	0.59158	0.1135:0.5212:0.3653:0.0	.	808;863;880;863	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	D	863;808;863	ENSP00000383211:E808D;ENSP00000383212:E863D	ENSP00000383211:E808D	E	+	3	2	SGSM1	23624340	0.004000	0.15560	0.310000	0.25168	0.800000	0.45204	-1.909000	0.01586	-0.919000	0.03803	0.482000	0.46254	GAA		0.597	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		T	25294340	A	T	25294340	3	4	573	1	0	0	0	0	1	0	0	0	14228	11	1	5	2667	5	SGSM1	22	25294340	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	5219576	25294340	26010226	91	31270											
ARSD	414	hgsc.bcm.edu	37	X	2832696	2832696	+	Intron	SNP	T	T	C	rs113031742		TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chrX:2832696T>C	ENST00000381154.1	-	6	1076				ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGCCTCACTGGTCCTCTCC	0.423																																																0													111	103	106					X																	2832696		2203	4300	6503	SO:0001627	intron_variant	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1000+900A>G	X.37:g.2832696T>C			Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																				0.423	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			C	2832696	T	C	2832696	1	2	573	0	1	0	0	0	0	0	0	0	989	1567	55	3		3	ARSD	23	2832696	Intron	SNP	T	TCGA-CZ-4857-01A-01D-1373-10		2832696	152437864	92	31271											
TBL1X	6907	hgsc.bcm.edu;ucsc.edu	37	X	9660211	9660211	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chrX:9660211A>G	ENST00000217964.7	+	9	1448	c.808A>G	c.(808-810)Acc>Gcc	p.T270A	TBL1X_ENST00000380961.1_Missense_Mutation_p.T219A|TBL1X_ENST00000407597.2_Missense_Mutation_p.T270A|TBL1X_ENST00000424279.1_Missense_Mutation_p.T219A|TBL1X_ENST00000536365.1_Missense_Mutation_p.T219A	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	270					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CGGGGGCTCCACCCAGCTCGT	0.507																																																0													112	109	110					X																	9660211		2203	4300	6503	SO:0001583	missense	6907			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.808A>G	X.37:g.9660211A>G	ENSP00000217964:p.Thr270Ala		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.410071	0.25465	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.56103	0.48;3.58;3.58;3.58;0.48	4.35	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	N	0.04880	-0.145	0.54753	D	0.999987	B;B	0.28552	0.215;0.116	B;B	0.32465	0.146;0.101	T	0.11348	-1.0591	10	0.07990	T	0.79	.	13.0748	0.59081	1.0:0.0:0.0:0.0	.	233;270	Q59F53;O60907	.;TBL1X_HUMAN	A	270;219;219;219;270	ENSP00000385988:T270A;ENSP00000394097:T219A;ENSP00000445317:T219A;ENSP00000370348:T219A;ENSP00000217964:T270A	ENSP00000217964:T270A	T	+	1	0	TBL1X	9620211	1.000000	0.71417	0.972000	0.41901	0.086000	0.17979	6.806000	0.75195	1.524000	0.49035	0.486000	0.48141	ACC		0.507	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		G	9660211	A	G	9660211	3	3	573	1	0	0	0	0	1	0	0	0	15644	159	6	3	830	3	TBL1X	23	9660211	Missense_Mutation	SNP	A	TCGA-CZ-4857-01A-01D-1373-10	6827515	9660211	145610349	93	31272											
MAGEC1	9947	hgsc.bcm.edu	37	X	140993877	140993877	+	Silent	SNP	C	C	A	rs176039	byFrequency	TCGA-CZ-4857-01A-01D-1373-10	TCGA-CZ-4857-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	45c7eea2-42be-4cc7-b658-9cb273fae580	a465c09a-09bc-4057-a658-e29daf498813	g.chrX:140993877C>A	ENST00000285879.4	+	4	973	c.687C>A	c.(685-687)gcC>gcA	p.A229A	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	229										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGTTTTGCCCAGTCTCCTC	0.488										HNSCC(15;0.026)																																						0																																										SO:0001819	synonymous_variant	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.687C>A	X.37:g.140993877C>A			A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	CCDS35417.1																																																																																				0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140993877	C	A	140993877	2	1	573	1	0	0	0	0	0	0	0	1	9182	610	22	4		4	MAGEC1	23	140993877	Silent	SNP	C	TCGA-CZ-4857-01A-01D-1373-10	131333666	140993877	14276683	94	31273											
VHL	7428	hgsc.bcm.edu	37	3	10183771	10183771	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4858-01A-01W-1369-10	TCGA-CZ-4858-11A-01W-1370-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	cde56908-be1f-41e6-a22d-77201c5e6148	0ae37c07-fa56-4fd7-9b40-63bfede5bbc8	g.chr3:10183771T>G	ENST00000256474.2	+	1	1080	c.240T>G	c.(238-240)agT>agG	p.S80R	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.S80R	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	80			S -> I (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|S -> N (in pheochromocytoma and VHLD; type I; dbSNP:rs5030805). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S80R(13)|p.S72_V87>L(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.S80_P81>T(1)|p.V74fs*77(1)|p.R79_P81>P(1)|p.N78fs*50(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCAATCGCAGTCCGCGCGTCG	0.711		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	20	Substitution - Missense(13)|Deletion - Frameshift(4)|Complex - deletion inframe(3)	kidney(17)|pancreas(3)	GRCh37	CM941367	VHL	M							12	15	14					3																	10183771		2173	4236	6409	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.240T>G	3.37:g.10183771T>G	ENSP00000256474:p.Ser80Arg		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	t	31	5.090013	0.94149	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99771	-6.71;-6.71	5.43	0.134	0.14771	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.129383	0.64402	D	0.000001	D	0.99293	0.9753	L	0.45352	1.415	0.26950	N	0.966042	D;D	0.76494	0.995;0.999	D;D	0.72338	0.944;0.977	D	0.97915	1.0311	10	0.59425	D	0.04	-7.6498	5.7116	0.17938	0.0:0.4564:0.1335:0.4101	.	80;80	P40337-2;P40337	.;VHL_HUMAN	R	80	ENSP00000256474:S80R;ENSP00000344757:S80R	ENSP00000256474:S80R	S	+	3	2	VHL	10158771	0.987000	0.35691	1.000000	0.80357	0.978000	0.69477	0.015000	0.13355	0.241000	0.21283	-0.271000	0.10264	AGT		0.711	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10183771	T	G	10183771	3	3	574	1	0	0	0	0	1	0	0	0	17167	1664	58	5	242	5	VHL	3	10183771	Missense_Mutation	SNP	T	TCGA-CZ-4858-01A-01W-1369-10		10183771	187838659	1	31274											
CDKN2A	1029	hgsc.bcm.edu	37	9	21971163	21971164	+	In_Frame_Ins	INS	-	-	AGC			TCGA-CZ-4858-01A-01W-1369-10	TCGA-CZ-4858-11A-01W-1370-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	cde56908-be1f-41e6-a22d-77201c5e6148	0ae37c07-fa56-4fd7-9b40-63bfede5bbc8	g.chr9:21971163_21971164insAGC	ENST00000304494.5	-	2	464_465	c.194_195insGCT	c.(193-195)ctc>ctGCTc	p.65_65L>LL	CDKN2A_ENST00000498628.2_In_Frame_Ins_p.14_14L>LL|CDKN2A_ENST00000579122.1_In_Frame_Ins_p.65_65L>LL|CDKN2A_ENST00000446177.1_In_Frame_Ins_p.65_65L>LL|CDKN2A_ENST00000498124.1_In_Frame_Ins_p.65_65L>LL|CDKN2A_ENST00000361570.3_In_Frame_Ins_p.120_121insA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_In_Frame_Ins_p.14_14L>LL|CDKN2A_ENST00000494262.1_In_Frame_Ins_p.14_14L>LL|CDKN2A_ENST00000530628.2_In_Frame_Ins_p.79_80insA|CDKN2A_ENST00000479692.2_In_Frame_Ins_p.14_14L>LL|CDKN2A_ENST00000579755.1_In_Frame_Ins_p.79_80insA|CDKN2A_ENST00000497750.1_In_Frame_Ins_p.14_14L>LL	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	65					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(45)|p.E61fs*80(2)|p.L65P(2)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.H66fs*52(1)|p.0(1)|p.L64_E69>Q(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.G116fs*>53(1)|p.L63fs*75(1)|p.V59_G67del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGCGCCGTGGAGCAGCAGCAG	0.688		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																						1378	Whole gene deletion(1316)|Unknown(45)|Deletion - Frameshift(12)|Deletion - In frame(2)|Substitution - Missense(2)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(285)|skin(175)|central_nervous_system(167)|lung(145)|urinary_tract(92)|bone(74)|soft_tissue(57)|oesophagus(56)|upper_aerodigestive_tract(55)|pleura(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM041748	CDKN2A	M																																				SO:0001652	inframe_insertion	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.192_194dupGCT	9.37:g.21971170_21971172dupAGC	ENSP00000307101:p.Leu65dup		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Ins	INS	ENST00000304494.5	37	CCDS6510.1																																																																																				0.688	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		AGC	21971164	-	AGC	21971163	7	5	574	1	0	1	1	0	0	0	0	0	3163	1174	41	0	283	0	CDKN2A	9	21971163	In_Frame_Ins	INS	-	TCGA-CZ-4858-01A-01W-1369-10		21971163	119242268	2	31275											
ZBTB48	3104	hgsc.bcm.edu;ucsc.edu	37	1	6647268	6647280	+	Frame_Shift_Del	DEL	TCCTCCTGCTCCC	TCCTCCTGCTCCC	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	TCCTCCTGCTCCC	TCCTCCTGCTCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:6647268_6647280delTCCTCCTGCTCCC	ENST00000377674.4	+	6	1299_1311	c.1141_1153delTCCTCCTGCTCCC	c.(1141-1155)tcctcctgctcccagfs	p.SSCSQ381fs		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	381					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TTTTCAGTGTTCCTCCTGCTCCCAGCAGTTCAT	0.587																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)											0																																										SO:0001589	frameshift_variant	3104			BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4930	protein-coding gene	gene with protein product		165270	"GLI-Kruppel family member HKR3"	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1141_1153delTCCTCCTGCTCCC	1.37:g.6647268_6647280delTCCTCCTGCTCCC	ENSP00000366902:p.Ser381fs		Q5SY19	Frame_Shift_Del	DEL	ENST00000377674.4	37	CCDS84.1																																																																																				0.587	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		-	6647280	TCCTCCTGCTCCC	-	6647268	7	5	575	1	0	1	0	1	0	0	0	0	17554	1783	62	0	1159	0	ZBTB48	1	6647268	Frame_Shift_Del	DEL	TCCTCCTGCTCCC	TCGA-CZ-4859-01A-02D-1429-08		6647268	242603353	1	31276											
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16260312	16260312	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:16260312A>C	ENST00000375759.3	+	11	7781	c.7577A>C	c.(7576-7578)gAt>gCt	p.D2526A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2526	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.D2526A(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGCCTCTGATGTTGACACC	0.552																																																1	Substitution - Missense(1)	kidney(1)											184	188	187					1																	16260312		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7577A>C	1.37:g.16260312A>C	ENSP00000364912:p.Asp2526Ala		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474725	0.43942	.	.	ENSG00000065526	ENST00000375759	T	0.27256	1.68	5.16	5.16	0.70880	.	.	.	.	.	T	0.45716	0.1356	L	0.59436	1.845	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.25847	-1.0120	9	0.23891	T	0.37	-21.2822	14.9899	0.71377	1.0:0.0:0.0:0.0	.	2526	Q96T58	MINT_HUMAN	A	2526	ENSP00000364912:D2526A	ENSP00000364912:D2526A	D	+	2	0	SPEN	16132899	1.000000	0.71417	0.942000	0.38095	0.798000	0.45092	8.864000	0.92294	1.958000	0.56883	0.459000	0.35465	GAT		0.552	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		C	16260312	A	C	16260312	3	2	575	1	0	0	0	0	1	0	0	0	15043	333	12	5	7619	5	SPEN	1	16260312	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	9613044	16260312	232990309	2	31277											
CYP4A11	1579	broad.mit.edu;hgsc.bcm.edu	37	1	47399695	47399695	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:47399695A>G	ENST00000310638.4	-	9	1176	c.1145T>C	c.(1144-1146)cTc>cCc	p.L382P	CYP4A11_ENST00000462347.1_Missense_Mutation_p.L284P|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000496519.1_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.L382P|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L383P	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	382					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.L382P(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CGGTGGGTAGAGCCTCAGTGC	0.587																																																1	Substitution - Missense(1)	kidney(1)											97	79	85					1																	47399695		2203	4300	6503	SO:0001583	missense	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1145T>C	1.37:g.47399695A>G	ENSP00000311095:p.Leu382Pro		Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	17.64	3.440188	0.63067	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.74737	-0.87;-0.87;-0.87	5.17	4.01	0.46588	.	0.320753	0.33534	N	0.004815	D	0.89719	0.6796	H	0.96777	3.88	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.91156	0.4957	10	0.87932	D	0	.	11.2702	0.49133	0.9265:0.0:0.0735:0.0	.	382	Q02928	CP4AB_HUMAN	P	382;383;382	ENSP00000311095:L382P;ENSP00000360971:L383P;ENSP00000360972:L382P	ENSP00000311095:L382P	L	-	2	0	CYP4A11	47172282	0.950000	0.32346	0.299000	0.25016	0.765000	0.43378	7.364000	0.79526	0.879000	0.35944	0.528000	0.53228	CTC		0.587	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		G	47399695	A	G	47399695	3	3	575	1	0	0	0	0	1	0	0	0	4185	304	11	3	430	3	CYP4A11	1	47399695	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	31139383	47399695	201850926	3	31278											
JAK1	3716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	65344794	65344794	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:65344794A>T	ENST00000342505.4	-	4	491	c.243T>A	c.(241-243)taT>taA	p.Y81*		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	81	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Y81*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGTTCTCGTCATACAGGGCAA	0.463			Mis		ALL																																		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	1	Substitution - Nonsense(1)	kidney(1)											138	133	135					1																	65344794		1995	4169	6164	SO:0001587	stop_gained	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.243T>A	1.37:g.65344794A>T	ENSP00000343204:p.Tyr81*		Q59GQ2|Q9UD26	Nonsense_Mutation	SNP	ENST00000342505.4	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	37	6.007534	0.97195	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.06	-3.15	0.05233	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4504	12.2556	0.54621	0.5318:0.0:0.4682:0.0	.	.	.	.	X	81	.	ENSP00000343204:Y81X	Y	-	3	2	JAK1	65117382	0.926000	0.31397	0.984000	0.44739	0.586000	0.36452	0.091000	0.15046	-0.414000	0.07495	0.533000	0.62120	TAT		0.463	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		T	65344794	A	T	65344794	4	4	575	1	0	0	0	0	0	1	0	0	7939	224	8	5	3309	5	JAK1	1	65344794	Nonsense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	17945099	65344794	183905827	4	31279											
ABCD3	5825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94943864	94943864	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:94943864G>A	ENST00000370214.4	+	8	701	c.677G>A	c.(676-678)gGa>gAa	p.G226E	ABCD3_ENST00000315713.5_Missense_Mutation_p.G226E|ABCD3_ENST00000454898.2_Missense_Mutation_p.G250E|ABCD3_ENST00000394233.2_Missense_Mutation_p.G226E|ABCD3_ENST00000536817.1_Missense_Mutation_p.G153E	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	226	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.G226E(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGTGCAATTGGAGCTCAGGTG	0.269																																																2	Substitution - Missense(2)	kidney(2)											71	72	72					1																	94943864		2201	4293	6494	SO:0001583	missense	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.677G>A	1.37:g.94943864G>A	ENSP00000359233:p.Gly226Glu		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065061	0.93898	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214;ENST00000315713	D;D;D;D;D	0.99778	-3.47;-3.47;-3.47;-3.47;-6.73	5.53	5.53	0.82687	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.97225	0.9880	10	0.62326	D	0.03	-17.7584	19.403	0.94639	0.0:0.0:1.0:0.0	.	250;226;226;226	E7EUE1;P28288-2;P28288;P28288-3	.;.;ABCD3_HUMAN;.	E	226;250;153;226;226	ENSP00000377780:G226E;ENSP00000403357:G250E;ENSP00000440692:G153E;ENSP00000359233:G226E;ENSP00000326880:G226E	ENSP00000326880:G226E	G	+	2	0	ABCD3	94716452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.670000	0.91168	2.762000	0.94881	0.655000	0.94253	GGA		0.269	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		A	94943864	G	A	94943864	3	1	575	1	0	0	0	0	1	0	0	0	62	1174	41	2	707	2	ABCD3	1	94943864	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	29599070	94943864	154306757	5	31280											
RPRD2	23248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150444821	150444821	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:150444821A>G	ENST00000369068.4	+	11	3401	c.3397A>G	c.(3397-3399)Aca>Gca	p.T1133A	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.T1107A	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1133						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.T1133A(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGATCTGAGCACATCAGGTAG	0.567																																																2	Substitution - Missense(2)	kidney(2)											53	56	55					1																	150444821		2009	4160	6169	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3397A>G	1.37:g.150444821A>G	ENSP00000358064:p.Thr1133Ala		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287932	0.23478	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.42131	0.98;0.99	4.87	3.73	0.42828	.	0.377447	0.27052	N	0.021166	T	0.15176	0.0366	N	0.14661	0.345	0.80722	D	1	B;B	0.15930	0.009;0.015	B;B	0.19391	0.011;0.025	T	0.09751	-1.0660	10	0.72032	D	0.01	-10.8428	12.5053	0.55977	0.8518:0.1482:0.0:0.0	.	1133;1107	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	A	1107;1133	ENSP00000383785:T1107A;ENSP00000358064:T1133A	ENSP00000358064:T1133A	T	+	1	0	RPRD2	148711445	0.310000	0.24527	1.000000	0.80357	0.953000	0.61014	0.426000	0.21363	2.031000	0.59945	0.533000	0.62120	ACA		0.567	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		G	150444821	A	G	150444821	3	3	575	1	0	0	0	0	1	0	0	0	13623	159	6	3	3439	3	RPRD2	1	150444821	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	55500957	150444821	98805800	6	31281											
KPRP	448834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152732829	152732829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:152732829C>A	ENST00000606109.1	+	1	793	c.765C>A	c.(763-765)tgC>tgA	p.C255*	KPRP_ENST00000368773.1_Nonsense_Mutation_p.C255*			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	255						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.C255*(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCAGATGCCTTCCTCCTC	0.617																																																1	Substitution - Nonsense(1)	kidney(1)											47	53	51					1																	152732829		2203	4300	6503	SO:0001587	stop_gained	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.765C>A	1.37:g.152732829C>A	ENSP00000475216:p.Cys255*			Nonsense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517999	0.64634	.	.	ENSG00000203786	ENST00000368773	.	.	.	5.46	4.55	0.56014	.	0.000000	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9127	10.2755	0.43507	0.0:0.9088:0.0:0.0912	.	.	.	.	X	255	.	ENSP00000357762:C255X	C	+	3	2	KPRP	150999453	0.996000	0.38824	0.947000	0.38551	0.101000	0.19017	0.730000	0.26043	1.450000	0.47717	0.655000	0.94253	TGC		0.617	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		A	152732829	C	A	152732829	4	1	575	1	0	0	0	0	0	1	0	0	8438	747	26	4	767	4	KPRP	1	152732829	Nonsense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	2288008	152732829	96517792	7	31282											
NUP210L	91181	hgsc.bcm.edu;ucsc.edu	37	1	154026805	154026807	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	TAT	TAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:154026805_154026807delTAT	ENST00000368559.3	-	25	3451_3453	c.3380_3382delATA	c.(3379-3384)aatagg>agg	p.N1127del	NUP210L_ENST00000368553.1_In_Frame_Del_p.N60del|NUP210L_ENST00000271854.3_In_Frame_Del_p.N1127del	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1127					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGCCCCCTCCTATTAACAACAGC	0.453																																																0																																										SO:0001651	inframe_deletion	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3380_3382delATA	1.37:g.154026805_154026807delTAT	ENSP00000357547:p.Asn1127del		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	In_Frame_Del	DEL	ENST00000368559.3	37	CCDS41399.1																																																																																				0.453	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		-	154026807	TAT	-	154026805	7	5	575	1	0	1	0	1	0	0	0	0	10763	1521	53	0	2348	0	NUP210L	1	154026805	In_Frame_Del	DEL	TAT	TCGA-CZ-4859-01A-02D-1429-08	1293976	154026805	95223816	8	31283											
CLK2	1196	broad.mit.edu;ucsc.edu	37	1	155238498	155238498	+	Splice_Site	DEL	C	C	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:155238498delC	ENST00000368361.4	-	4	803		c.e4+1		CLK2_ENST00000536801.1_Splice_Site|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Splice_Site|CLK2_ENST00000361168.5_Splice_Site			P49760	CLK2_HUMAN	CDC-like kinase 2						negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGGCTTGTACATCGCTCTTG	0.562								Other conserved DNA damage response genes																																								0													141	113	123					1																	155238498		2203	4300	6503	SO:0001630	splice_region_variant	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.487+1G>-	1.37:g.155238498delC			B1AVS9|B5MBX6|Q96CQ0	Splice_Site	DEL	ENST00000368361.4	37																																																																																					0.562	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993	Intron	-	155238498	C	-	155238498	8	5	575	1	0	1	0	1	0	0	1	0	3539	492	17	0	1051	0	CLK2	1	155238498	Splice_Site	DEL	C	TCGA-CZ-4859-01A-02D-1429-08	1211693	155238498	94012123	9	31284											
MYOC	4653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171605694	171605694	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:171605694G>A	ENST00000037502.6	-	3	957	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	296	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.R296C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AAAACCTGGCGGACATCCGTG	0.542																																																1	Substitution - Missense(1)	kidney(1)											88	78	81					1																	171605694		2203	4300	6503	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.886C>T	1.37:g.171605694G>A	ENSP00000037502:p.Arg296Cys		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795439	0.50208	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	D	0.85013	-1.93	5.76	5.76	0.90799	Olfactomedin-like (3);	0.183371	0.64402	D	0.000011	D	0.93485	0.7921	M	0.90759	3.145	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.94114	0.7373	10	0.87932	D	0	.	18.5426	0.91035	0.0:0.0:1.0:0.0	.	238;296	B4DV44;Q99972	.;MYOC_HUMAN	C	296;249;229;296	ENSP00000037502:R296C	ENSP00000037502:R296C	R	-	1	0	MYOC	169872317	1.000000	0.71417	0.996000	0.52242	0.106000	0.19336	6.269000	0.72558	2.719000	0.93026	0.555000	0.69702	CGC		0.542	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		A	171605694	G	A	171605694	3	1	575	1	0	0	0	0	1	0	0	0	10088	1116	39	1	632	1	MYOC	1	171605694	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	16367196	171605694	77644927	10	31285											
TARBP1	6894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234536934	234536934	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:234536934C>T	ENST00000040877.1	-	25	4063	c.4064G>A	c.(4063-4065)tGt>tAt	p.C1355Y	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1355					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.C1355Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CACCTCTAGACAATAATCCTT	0.358																																																1	Substitution - Missense(1)	kidney(1)											101	93	96					1																	234536934		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4064G>A	1.37:g.234536934C>T	ENSP00000040877:p.Cys1355Tyr		Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080068	0.76528	.	.	ENSG00000059588	ENST00000040877	T	0.05855	3.38	5.99	5.07	0.68467	.	0.043983	0.85682	D	0.000000	T	0.15782	0.0380	L	0.60455	1.87	0.47862	D	0.999535	D	0.59357	0.985	P	0.54460	0.753	T	0.00026	-1.2313	10	0.62326	D	0.03	-7.3364	14.6419	0.68732	0.0:0.9306:0.0:0.0694	.	1355	Q13395	TARB1_HUMAN	Y	1355	ENSP00000040877:C1355Y	ENSP00000040877:C1355Y	C	-	2	0	TARBP1	232603557	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	5.290000	0.65661	2.843000	0.97960	0.655000	0.94253	TGT		0.358	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		T	234536934	C	T	234536934	3	4	575	1	0	0	0	0	1	0	0	0	15560	478	17	2	825	2	TARBP1	1	234536934	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	62931240	234536934	14713687	11	31286											
RBM34	23029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235318310	235318311	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr1:235318310_235318311delTG	ENST00000408888.3	-	4	712_713	c.482_483delCA	c.(481-483)acafs	p.T161fs	RBM34_ENST00000366606.3_Frame_Shift_Del_p.T156fs			P42696	RBM34_HUMAN	RNA binding motif protein 34	161						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CTGTGTCTTCTGTGTCATCAAG	0.351																																																0																																										SO:0001589	frameshift_variant	23029				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"RNA binding motif (RRM) containing"	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.482_483delCA	1.37:g.235318312_235318313delTG	ENSP00000386226:p.Thr161fs		A8K8J7|Q8N2Z8|Q9H5A1	Frame_Shift_Del	DEL	ENST00000408888.3	37	CCDS41477.2																																																																																				0.351	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		-	235318311	TG	-	235318310	7	5	575	1	0	1	0	1	0	0	0	0	13137	1567	55	0	862	0	RBM34	1	235318310	Frame_Shift_Del	DEL	TG	TCGA-CZ-4859-01A-02D-1429-08	781376	235318310	13932311	12	31287											
APOB	338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	21225676	21225676	+	Silent	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:21225676C>T	ENST00000233242.1	-	29	12745	c.12618G>A	c.(12616-12618)ggG>ggA	p.G4206G	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4206					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G4206G(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCAGGTTTCCCCGGAAACT	0.438																																																1	Substitution - coding silent(1)	kidney(1)											51	53	52					2																	21225676		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12618G>A	2.37:g.21225676C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21225676	C	T	21225676	2	4	575	1	0	0	0	0	0	0	0	1	785	842	30	2		2	APOB	2	21225676	Silent	SNP	C	TCGA-CZ-4859-01A-02D-1429-08		21225676	221973697	13	31288											
IFT172	26160	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27704017	27704017	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:27704017G>T	ENST00000260570.3	-	8	784	c.681C>A	c.(679-681)caC>caA	p.H227Q	IFT172_ENST00000359466.6_Missense_Mutation_p.H227Q|IFT172_ENST00000416524.2_Missense_Mutation_p.H206Q	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	227					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.H227Q(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTTGTAGCATGTGACCTTCTT	0.507																																																1	Substitution - Missense(1)	kidney(1)											78	70	73					2																	27704017		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.681C>A	2.37:g.27704017G>T	ENSP00000260570:p.His227Gln		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.665172	0.00765	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.63417	-0.04;-0.04;1.7	5.72	-11.4	0.00090	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.297295	0.41001	N	0.000978	T	0.26340	0.0643	N	0.02916	-0.46	0.23896	N	0.996533	B;B;B;B	0.12013	0.0;0.001;0.0;0.005	B;B;B;B	0.16289	0.0;0.015;0.002;0.005	T	0.16100	-1.0414	10	0.44086	T	0.13	-7.0708	10.5746	0.45219	0.6313:0.0:0.1564:0.2123	.	227;227;227;227	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	Q	227;227;206	ENSP00000260570:H227Q;ENSP00000352443:H227Q;ENSP00000407408:H206Q	ENSP00000260570:H227Q	H	-	3	2	IFT172	27557521	0.000000	0.05858	0.039000	0.18376	0.088000	0.18126	-4.999000	0.00161	-3.266000	0.00200	-0.384000	0.06662	CAC		0.507	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		T	27704017	G	T	27704017	3	4	575	1	0	0	0	0	1	0	0	0	7559	1368	48	4	4732	4	IFT172	2	27704017	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	6478341	27704017	215495356	14	31289											
SLC3A1	6519	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44507853	44507853	+	Splice_Site	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:44507853A>G	ENST00000260649.6	+	2	506		c.e2-1		SLC3A1_ENST00000409741.1_Splice_Site|SLC3A1_ENST00000409229.3_Splice_Site|SLC3A1_ENST00000410056.3_Splice_Site|SLC3A1_ENST00000409387.1_Splice_Site	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.?(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTTTTTCTTCAGGTATTCAAG	0.284																																																1	Unknown(1)	kidney(1)											30	32	31					2																	44507853		2201	4297	6498	SO:0001630	splice_region_variant	6519				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.431-1A>G	2.37:g.44507853A>G			A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Splice_Site	SNP	ENST00000260649.6	37	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.772870	0.69992	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7284	0.69362	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC3A1	44361357	1.000000	0.71417	0.988000	0.46212	0.943000	0.58893	8.699000	0.91316	1.930000	0.55929	0.533000	0.62120	.		0.284	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341	Intron	G	44507853	A	G	44507853	5	3	575	1	0	0	0	0	0	0	1	0	14632	202	7	3	435	3	SLC3A1	2	44507853	Splice_Site	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	16803836	44507853	198691520	15	31290											
SLC4A5	57835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74477471	74477471	+	Splice_Site	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:74477471T>A	ENST00000377634.4	-	17	2051	c.1652A>T	c.(1651-1653)cAg>cTg	p.Q551L	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Splice_Site_p.Q551L|SLC4A5_ENST00000377632.1_Splice_Site_p.Q551L|SLC4A5_ENST00000358683.4_Splice_Site_p.Q487L|SLC4A5_ENST00000357822.5_Splice_Site_p.Q551L|SLC4A5_ENST00000359484.4_Splice_Site_p.Q487L|SLC4A5_ENST00000346834.4_Splice_Site_p.Q551L|SLC4A5_ENST00000423644.1_Splice_Site_p.Q551L					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.Q551L(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGCACACACCTGATAATTGTC	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(2)											69	69	69					2																	74477471		2203	4300	6503	SO:0001630	splice_region_variant	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1653+1A>T	2.37:g.74477471T>A		1153		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052643	0.55218	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.65	5.65	0.86999	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	L	0.39085	1.19	0.58432	D	0.999999	P;D;D;D;D	0.89917	0.708;1.0;0.999;1.0;0.973	B;D;D;D;P	0.91635	0.395;0.999;0.999;0.999;0.843	T	0.74188	-0.3746	10	0.06494	T	0.89	.	13.8738	0.63638	0.0:0.0:0.0:1.0	.	551;551;487;551;551	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	L	551;551;551;487;551;487;551;551;551;551	ENSP00000377587:Q551L;ENSP00000251768:Q551L;ENSP00000352461:Q487L;ENSP00000395804:Q551L;ENSP00000351513:Q487L;ENSP00000350475:Q551L;ENSP00000366859:Q551L;ENSP00000366861:Q551L;ENSP00000405678:Q551L	ENSP00000251768:Q551L	Q	-	2	0	SLC4A5	74330979	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	CAG		0.527	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		Missense_Mutation	A	74477471	T	A	74477471	5	1	575	1	0	0	0	0	0	0	1	0	14663	1594	55	5	1821	5	SLC4A5	2	74477471	Splice_Site	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	29969618	74477471	168721902	16	31291											
INPP4A	3631	hgsc.bcm.edu;ucsc.edu	37	2	99156037	99156037	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:99156037delT	ENST00000523221.1	+	8	717	c.717delT	c.(715-717)gatfs	p.D239fs	INPP4A_ENST00000545415.1_Frame_Shift_Del_p.D239fs|INPP4A_ENST00000409540.3_Frame_Shift_Del_p.D239fs|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Frame_Shift_Del_p.D239fs|INPP4A_ENST00000409016.4_Frame_Shift_Del_p.D239fs|INPP4A_ENST00000074304.5_Frame_Shift_Del_p.D239fs			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	239					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CAACCACTGATGGTAACCATT	0.577																																																0													124	119	121					2																	99156037		2101	4243	6344	SO:0001589	frameshift_variant	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.717delT	2.37:g.99156037delT	ENSP00000427722:p.Asp239fs		O15326|Q13187|Q53TD8|Q8TC02	Frame_Shift_Del	DEL	ENST00000523221.1	37	CCDS46369.1																																																																																				0.577	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		-	99156037	T	-	99156037	7	5	575	1	0	1	0	1	0	0	0	0	7754	1461	51	0	747	0	INPP4A	2	99156037	Frame_Shift_Del	DEL	T	TCGA-CZ-4859-01A-02D-1429-08	24678566	99156037	144043336	17	31292											
CYP27C1	339761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	127961091	127961091	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:127961091G>C	ENST00000335247.7	-	2	165	c.35C>G	c.(34-36)cCg>cGg	p.P12R	CYP27C1_ENST00000409327.1_Missense_Mutation_p.P12R	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	12						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.P12R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CACATCTTTCGGTTTCAGAAT	0.413																																																1	Substitution - Missense(1)	kidney(1)											146	148	147					2																	127961091		2203	4300	6503	SO:0001583	missense	339761			AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"Cytochrome P450s"	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.35C>G	2.37:g.127961091G>C	ENSP00000334128:p.Pro12Arg		Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504954	0.44558	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.69040	-0.37;-0.37	4.23	3.35	0.38373	.	0.137305	0.49916	D	0.000131	D	0.83261	0.5216	M	0.90542	3.125	0.49130	D	0.999757	D	0.89917	1.0	D	0.91635	0.999	D	0.85375	0.1116	10	0.87932	D	0	0.0663	11.7751	0.51981	0.0872:0.0:0.9128:0.0	.	12	Q4G0S4	C27C1_HUMAN	R	12	ENSP00000334128:P12R;ENSP00000387198:P12R	ENSP00000334128:P12R	P	-	2	0	CYP27C1	127677561	1.000000	0.71417	0.345000	0.25642	0.341000	0.28922	6.076000	0.71267	0.781000	0.33589	0.491000	0.48974	CCG		0.413	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		C	127961091	G	C	127961091	3	2	575	1	0	0	0	0	1	0	0	0	4162	1116	39	4	1111	4	CYP27C1	2	127961091	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	28805054	127961091	115238282	18	31293											
LRP1B	53353	hgsc.bcm.edu;ucsc.edu	37	2	141812795	141812796	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:141812795_141812796delCC	ENST00000389484.3	-	10	2412_2413	c.1441_1442delGG	c.(1441-1443)ggafs	p.G481fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	481	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCTGGCATTCCATATGGATCG	0.446										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0																																										SO:0001589	frameshift_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1441_1442delGG	2.37:g.141812795_141812796delCC	ENSP00000374135:p.Gly481fs		Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Del	DEL	ENST00000389484.3	37	CCDS2182.1																																																																																				0.446	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		-	141812796	CC	-	141812795	7	5	575	1	0	1	0	1	0	0	0	0	8957	855	30	0	12685	0	LRP1B	2	141812795	Frame_Shift_Del	DEL	CC	TCGA-CZ-4859-01A-02D-1429-08	13851704	141812795	101386578	19	31294											
TTN	7273	broad.mit.edu	37	2	179434729	179434729	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr2:179434729A>C	ENST00000591111.1	-	276	71431	c.71207T>G	c.(71206-71208)tTc>tGc	p.F23736C	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F25377C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F16437C|TTN_ENST00000460472.2_Missense_Mutation_p.F16312C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F16504C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F22809C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23736	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F16312C(1)|p.F22807C(1)|p.F16504C(1)|p.F16437C(1)|p.F22809C(1)		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)			AGAAACTCTGAACTCATAATC	0.453																																																5	Substitution - Missense(5)	kidney(5)											99	94	95					2																	179434729		1932	4129	6061	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71207T>G	2.37:g.179434729A>C	ENSP00000465570:p.Phe23736Cys		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	11.37	1.618648	0.28801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87529	0.6200	H	0.99609	4.655	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.69479	0.964;0.964;0.964;0.964	D	0.91743	0.5406	9	0.87932	D	0	.	11.3793	0.49748	0.8334:0.0:0.0:0.1666	.	16312;16437;16504;23736	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	22809;16312;16504;16437;16310	ENSP00000343764:F22809C;ENSP00000434586:F16312C;ENSP00000340554:F16504C;ENSP00000352154:F16437C	ENSP00000340554:F16504C	F	-	2	0	TTN	179142975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.999000	0.70665	2.302000	0.77476	0.533000	0.62120	TTC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179434729	A	C	179434729	3	2	575	1	0	0	0	0	1	0	0	0	16740	246	9	5	31997	5	TTN	2	179434729	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	37621934	179434729	63764644	20	31295											
SCN5A	6331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38647616	38647616	+	Silent	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:38647616G>T	ENST00000333535.4	-	10	1313	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	SCN5A_ENST00000425664.1_Silent_p.I388I|SCN5A_ENST00000423572.2_Silent_p.I388I|SCN5A_ENST00000443581.1_Silent_p.I388I|SCN5A_ENST00000450102.2_Silent_p.I388I|SCN5A_ENST00000449557.2_Silent_p.I388I|SCN5A_ENST00000413689.1_Silent_p.I388I|SCN5A_ENST00000451551.2_Silent_p.I388I|SCN5A_ENST00000414099.2_Silent_p.I388I|SCN5A_ENST00000455624.2_Silent_p.I388I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	388					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.I388I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGATCATGTAGATCTTCCCTG	0.557																																																2	Substitution - coding silent(2)	kidney(2)											57	58	58					3																	38647616		2003	4169	6172	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1164C>A	3.37:g.38647616G>T			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		T	38647616	G	T	38647616	2	4	575	1	0	0	0	0	0	0	0	1	13928	932	33	4		4	SCN5A	3	38647616	Silent	SNP	G	TCGA-CZ-4859-01A-02D-1429-08		38647616	159374814	21	31296											
LIMD1	8994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	45637344	45637344	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:45637344G>C	ENST00000273317.4	+	1	994	c.973G>C	c.(973-975)Gtg>Ctg	p.V325L	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.V325L	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	325					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V325L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GGTTTCAGGTGTGATGTCCAA	0.602																																																1	Substitution - Missense(1)	kidney(1)											79	81	80					3																	45637344		2203	4300	6503	SO:0001583	missense	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.973G>C	3.37:g.45637344G>C	ENSP00000273317:p.Val325Leu		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	0.700	-0.791310	0.02884	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.56776	0.44;0.63	4.79	-2.38	0.06622	.	4.180590	0.00357	N	0.000028	T	0.30448	0.0765	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.17837	-1.0356	10	0.07482	T	0.82	.	5.747	0.18126	0.4379:0.1382:0.424:0.0	.	325	Q9UGP4	LIMD1_HUMAN	L	325	ENSP00000394537:V325L;ENSP00000273317:V325L	ENSP00000273317:V325L	V	+	1	0	LIMD1	45612348	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.810000	0.04505	-0.568000	0.06038	0.655000	0.94253	GTG		0.602	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		C	45637344	G	C	45637344	3	2	575	1	0	0	0	0	1	0	0	0	8800	1377	48	4	975	4	LIMD1	3	45637344	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	6989728	45637344	152385086	22	31297											
SPINK8	646424	broad.mit.edu	37	3	48362546	48362546	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:48362546G>T	ENST00000434006.1	-	2	85	c.86C>A	c.(85-87)gCc>gAc	p.A29D		NM_001080525.1	NP_001073994.1	P0C7L1	ISK8_HUMAN	serine peptidase inhibitor, Kazal type 8 (putative)	29						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A29D(1)		autonomic_ganglia(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCTTTCAGAGGCCATAGGAAG	0.483																																																1	Substitution - Missense(1)	kidney(1)											51	46	48					3																	48362546		1859	4108	5967	SO:0001583	missense	646424				CCDS46822.1	3p21.31	2011-08-31			ENSG00000229453	ENSG00000229453		"Serine peptidase inhibitors, Kazal type"	33160	protein-coding gene	gene with protein product						16930550	Standard	NM_001080525		Approved		uc003csq.1	P0C7L1	OTTHUMG00000156832	ENST00000434006.1:c.86C>A	3.37:g.48362546G>T	ENSP00000407497:p.Ala29Asp			Missense_Mutation	SNP	ENST00000434006.1	37	CCDS46822.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.500572	0.01001	.	.	ENSG00000229453	ENST00000434006	T	0.25414	1.8	3.31	-2.35	0.06684	.	.	.	.	.	T	0.11153	0.0272	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37454	-0.9705	8	0.14656	T	0.56	.	5.8596	0.18738	0.0:0.3534:0.2491:0.3975	.	29	P0C7L1	ISK8_HUMAN	D	29	ENSP00000407497:A29D	ENSP00000407497:A29D	A	-	2	0	SPINK8	48337550	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.814000	0.04486	-0.548000	0.06199	0.650000	0.86243	GCC		0.483	SPINK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346123.1	NM_001080525		T	48362546	G	T	48362546	3	4	575	1	0	0	0	0	1	0	0	0	15070	1203	42	4	223	4	SPINK8	3	48362546	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	2725202	48362546	149659884	23	31298											
FAM116A	201627	broad.mit.edu	37	3	57678668	57678668	+	Silent	SNP	G	G	A	rs539723065	byFrequency	TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:57678668G>A	ENST00000311128.5	-	1	148	c.78C>T	c.(76-78)ggC>ggT	p.G26G	RP11-755B10.3_ENST00000465933.1_lincRNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	26					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G26G(1)									GCGCCTCGCGGCCCTCGGCCC	0.751													C|||	14	0.00279553	0.0	0.0	5008	,	,		12349	0.0		0.0	False		,,,				2504	0.0143															1	Substitution - coding silent(1)	kidney(1)											6	8	7					3																	57678668		1912	3767	5679	SO:0001819	synonymous_variant	0			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.78C>T	3.37:g.57678668G>A			Q7Z5T4|Q8N235|Q8TEG8	Silent	SNP	ENST00000311128.5	37	CCDS33773.1																																																																																				0.751	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		A	57678668	G	A	57678668	2	1	575	1	0	0	0	0	0	0	0	1	5409	1190	42	2		2	FAM116A	3	57678668	Silent	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	9316122	57678668	140343762	24	31299											
WDR5B	54554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122133533	122133533	+	Silent	SNP	A	A	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:122133533A>T	ENST00000330689.4	-	1	1349	c.843T>A	c.(841-843)atT>atA	p.I281I	RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	281								p.I281I(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GAAGGTTCCAAATGTAAACCA	0.403																																																1	Substitution - coding silent(1)	kidney(1)											145	137	140					3																	122133533		2203	4300	6503	SO:0001819	synonymous_variant	54554			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.843T>A	3.37:g.122133533A>T			B2RCM9|Q9NUL4	Silent	SNP	ENST00000330689.4	37	CCDS3012.1																																																																																				0.403	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		T	122133533	A	T	122133533	2	4	575	1	0	0	0	0	0	0	0	1	17314	10	1	5		5	WDR5B	3	122133533	Silent	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	64454865	122133533	75888897	25	31300											
ZIC4	84107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	147114035	147114035	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:147114035A>G	ENST00000383075.3	-	3	804	c.292T>C	c.(292-294)Tac>Cac	p.Y98H	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.Y148H|ZIC4_ENST00000425731.3_Missense_Mutation_p.Y136H|ZIC4_ENST00000473123.1_Missense_Mutation_p.Y98H|ZIC4_ENST00000484399.1_Missense_Mutation_p.Y98H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	98						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y98H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ATGCCCCCGTAGCCATGCAGG	0.687																																																1	Substitution - Missense(1)	kidney(1)											16	20	19					3																	147114035		2121	4255	6376	SO:0001583	missense	84107			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.292T>C	3.37:g.147114035A>G	ENSP00000372553:p.Tyr98His		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547486	0.86022	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	4.98	4.98	0.66077	.	0.162858	0.29080	N	0.013205	T	0.65196	0.2668	L	0.49778	1.585	0.80722	D	1	D;B	0.69078	0.997;0.032	D;B	0.66847	0.947;0.032	T	0.65051	-0.6262	10	0.42905	T	0.14	.	14.6674	0.68918	1.0:0.0:0.0:0.0	.	148;98	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	H	98;136;148;98;98;98	ENSP00000372553:Y98H;ENSP00000397695:Y136H;ENSP00000435509:Y148H;ENSP00000417855:Y98H;ENSP00000420775:Y98H;ENSP00000420627:Y98H	ENSP00000372553:Y98H	Y	-	1	0	ZIC4	148596725	1.000000	0.71417	0.930000	0.37139	0.926000	0.56050	8.962000	0.93254	1.864000	0.54056	0.459000	0.35465	TAC		0.687	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			G	147114035	A	G	147114035	3	3	575	1	0	0	0	0	1	0	0	0	17686	420	15	3	724	3	ZIC4	3	147114035	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	24980502	147114035	50908395	26	31301											
TNIK	23043	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170945979	170945979	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:170945979G>A	ENST00000436636.2	-	3	499	c.155C>T	c.(154-156)gCc>gTc	p.A52V	TNIK_ENST00000369326.5_Missense_Mutation_p.A52V|TNIK_ENST00000341852.6_Missense_Mutation_p.A52V|TNIK_ENST00000475336.1_Missense_Mutation_p.A52V|TNIK_ENST00000460047.1_Missense_Mutation_p.A52V|TNIK_ENST00000488470.1_Missense_Mutation_p.A52V|TNIK_ENST00000284483.8_Missense_Mutation_p.A52V|TNIK_ENST00000538048.1_Missense_Mutation_p.A52V|TNIK_ENST00000357327.5_Missense_Mutation_p.A52V|TNIK_ENST00000470834.1_Missense_Mutation_p.A52V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	52	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A52V(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AACCTTGATGGCTGCAAGCTG	0.393																																																2	Substitution - Missense(2)	kidney(2)											120	117	118					3																	170945979		1921	4121	6042	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.155C>T	3.37:g.170945979G>A	ENSP00000399511:p.Ala52Val		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416135	0.96092	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114507	0.64402	D	0.000015	T	0.79661	0.4484	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999;0.999;1.0;1.0	D;D;D;P;D;D;D;D	0.87578	0.955;0.959;0.998;0.84;0.959;0.959;0.998;0.976	T	0.81863	-0.0737	10	0.87932	D	0	.	17.8186	0.88643	0.0:0.0:1.0:0.0	.	52;52;52;52;52;52;52;52	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	V	52	ENSP00000399511:A52V;ENSP00000358332:A52V;ENSP00000443278:A52V;ENSP00000345352:A52V;ENSP00000284483:A52V;ENSP00000418156:A52V;ENSP00000349880:A52V;ENSP00000418916:A52V;ENSP00000418378:A52V;ENSP00000419990:A52V	ENSP00000284483:A52V	A	-	2	0	TNIK	172428673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.339000	0.90041	2.818000	0.97014	0.655000	0.94253	GCC		0.393	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		A	170945979	G	A	170945979	3	1	575	1	0	0	0	0	1	0	0	0	16318	1203	42	2	4051	2	TNIK	3	170945979	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	23831944	170945979	27076451	27	31302											
DNAJB11	51726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186299285	186299285	+	Silent	SNP	C	C	T	rs138789127		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr3:186299285C>T	ENST00000439351.1	+	6	1511	c.582C>T	c.(580-582)gaC>gaT	p.D194D	DNAJB11_ENST00000265028.3_Silent_p.D194D			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	194					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D194D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TGGTCTGCGACGAATGCCCTA	0.502																																																1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	82	84	83		582	-3.5	1	3	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	DNAJB11	NM_016306.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		194/359	186299285	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51726			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.582C>T	3.37:g.186299285C>T			Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Silent	SNP	ENST00000439351.1	37	CCDS3277.1																																																																																				0.502	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			T	186299285	C	T	186299285	2	4	575	1	0	0	0	0	0	0	0	1	4618	535	19	1		1	DNAJB11	3	186299285	Silent	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	15353306	186299285	11723145	28	31303											
AASDH	132949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57215942	57215942	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr4:57215942delT	ENST00000205214.6	-	11	2155	c.1975delA	c.(1975-1977)acafs	p.T659fs	AASDH_ENST00000434343.2_Frame_Shift_Del_p.T174fs|AASDH_ENST00000602986.1_Frame_Shift_Del_p.T506fs|AASDH_ENST00000502617.1_Frame_Shift_Del_p.T659fs|AASDH_ENST00000451613.1_Frame_Shift_Del_p.T659fs|AASDH_ENST00000513376.1_Frame_Shift_Del_p.T559fs	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	659					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TGTAAAGATGTTCCACTGGCT	0.408																																																0													226	197	207					4																	57215942		2203	4300	6503	SO:0001589	frameshift_variant	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1975delA	4.37:g.57215942delT	ENSP00000205214:p.Thr659fs		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Frame_Shift_Del	DEL	ENST00000205214.6	37	CCDS3504.1																																																																																				0.408	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		-	57215942	T	-	57215942	7	5	575	1	0	1	0	1	0	0	0	0	22	1725	60	0	1341	0	AASDH	4	57215942	Frame_Shift_Del	DEL	T	TCGA-CZ-4859-01A-02D-1429-08		57215942	133938334	29	31304											
TMPRSS11A	339967	broad.mit.edu;ucsc.edu	37	4	68780433	68780433	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr4:68780433T>C	ENST00000334830.7	-	9	1723	c.977A>G	c.(976-978)gAt>gGt	p.D326G	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.D323G|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.D322G			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	326	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.D326G(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TTCTCGGAGATCATTTTGGGA	0.378																																					NSCLC(26;2 894 10941 14480 22546)											1	Substitution - Missense(1)	kidney(1)											132	125	127					4																	68780433		2203	4300	6503	SO:0001583	missense	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.977A>G	4.37:g.68780433T>C	ENSP00000334611:p.Asp326Gly		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	T	0.959	-0.703908	0.03255	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.78	3.38	0.38709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.094320	0.06993	N	0.821942	T	0.80839	0.4700	L	0.28014	0.82	0.09310	N	1	B;B	0.31125	0.309;0.027	B;B	0.31946	0.138;0.055	T	0.66689	-0.5860	10	0.23302	T	0.38	.	4.0404	0.09748	0.1518:0.1636:0.0:0.6846	.	323;326	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	G	322;326;323;290	ENSP00000426911:D322G;ENSP00000334611:D326G;ENSP00000379491:D323G;ENSP00000427621:D290G	ENSP00000334611:D326G	D	-	2	0	TMPRSS11A	68463028	0.001000	0.12720	0.002000	0.10522	0.026000	0.11368	0.873000	0.28052	0.476000	0.27440	-0.353000	0.07706	GAT		0.378	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		C	68780433	T	C	68780433	3	2	575	1	0	0	0	0	1	0	0	0	16244	1435	50	3	296	3	TMPRSS11A	4	68780433	Missense_Mutation	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	11564491	68780433	122373843	30	31305											
FAT1	2195	broad.mit.edu;hgsc.bcm.edu	37	4	187535488	187535488	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr4:187535488G>A	ENST00000441802.2	-	12	9295	c.9086C>T	c.(9085-9087)tCa>tTa	p.S3029L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3029	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3029L(1)|p.S3032L(1)|p.S3029*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATAGTGTCTGAATATAAAGT	0.373										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											3	Substitution - Missense(2)|Substitution - Nonsense(1)	kidney(2)|upper_aerodigestive_tract(1)											78	75	76					4																	187535488		1863	4100	5963	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9086C>T	4.37:g.187535488G>A	ENSP00000406229:p.Ser3029Leu			Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564644	0.45694	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02631	4.22	4.73	4.73	0.59995	Cadherin (2);Cadherin-like (1);	0.368557	0.29266	N	0.012652	T	0.04998	0.0134	L	0.53729	1.69	0.37477	D	0.91584	B	0.33448	0.412	B	0.33799	0.17	T	0.50423	-0.8830	10	0.25106	T	0.35	.	17.9002	0.88901	0.0:0.0:1.0:0.0	.	3029	Q14517	FAT1_HUMAN	L	3029;3031	ENSP00000406229:S3029L	ENSP00000260147:S3031L	S	-	2	0	FAT1	187772482	1.000000	0.71417	0.963000	0.40424	0.576000	0.36127	4.801000	0.62532	2.470000	0.83445	0.455000	0.32223	TCA		0.373	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187535488	G	A	187535488	3	1	575	1	0	0	0	0	1	0	0	0	5691	1294	45	2	4744	2	FAT1	4	187535488	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	118755055	187535488	3618788	31	31306											
PCDHGB7	56099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140798209	140798209	+	Silent	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr5:140798209C>T	ENST00000398594.2	+	1	783	c.783C>T	c.(781-783)atC>atT	p.I261I	PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	261	Cadherin 3. {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)	p.I261I(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTCCATCCTGAGAGTGA	0.532																																																1	Substitution - coding silent(1)	kidney(1)											63	65	64					5																	140798209		2041	4195	6236	SO:0001819	synonymous_variant	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.783C>T	5.37:g.140798209C>T			Q9UN63	Silent	SNP	ENST00000398594.2	37	CCDS47293.1																																																																																				0.532	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		T	140798209	C	T	140798209	2	4	575	1	0	0	0	0	0	0	0	1	11570	845	30	2		2	PCDHGB7	5	140798209	Silent	SNP	C	TCGA-CZ-4859-01A-02D-1429-08		140798209	40117051	32	31307											
PCDHGA1	26025	broad.mit.edu;ucsc.edu	37	5	140890569	140890569	+	Silent	SNP	C	C	T	rs143630962		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr5:140890569C>T	ENST00000252085.3	+	4	2770	c.2628C>T	c.(2626-2628)agC>agT	p.S876S	PCDHGA9_ENST00000573521.1_Silent_p.S876S|PCDHGA2_ENST00000394576.2_Silent_p.S876S|PCDHGB6_ENST00000520790.1_Silent_p.S874S|PCDHGA1_ENST00000517417.1_Silent_p.S875S|PCDHGA4_ENST00000571252.1_Silent_p.S875S|PCDHGA11_ENST00000398587.2_Silent_p.S879S|PCDHGA5_ENST00000518069.1_Silent_p.S875S|PCDHGA6_ENST00000517434.1_Silent_p.S876S|PCDHGA8_ENST00000398604.2_Silent_p.S876S|PCDHGC3_ENST00000308177.3_Silent_p.S878S|PCDHGC5_ENST00000252087.1_Silent_p.S888S|PCDHGA11_ENST00000518882.1_Silent_p.S694S|PCDHGB7_ENST00000398594.2_Silent_p.S873S|PCDHGA10_ENST00000398610.2_Silent_p.S880S|PCDHGA3_ENST00000253812.6_Silent_p.S876S|PCDHGB4_ENST00000519479.1_Silent_p.S867S|PCDHGC4_ENST00000306593.1_Silent_p.S882S|PCDHGB3_ENST00000576222.1_Silent_p.S873S|PCDHGA7_ENST00000518325.1_Silent_p.S876S|PCDHGB1_ENST00000523390.1_Silent_p.S871S|PCDHGB2_ENST00000522605.1_Silent_p.S875S	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	876					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S876S(18)|p.S875S(14)|p.S873S(6)|p.S878S(4)|p.S871S(4)|p.S888S(4)|p.S867S(2)|p.S879S(2)|p.S882S(2)|p.S880S(2)|p.S874S(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGATTGAGCGCCCGCTACG	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17716	0.0		0.0	False		,,,				2504	0.0															60	Substitution - coding silent(60)	kidney(30)|endometrium(30)						C	,,,,,,,,,,,,,,,,,,,,,,,	0,4406		0,0,2203	92	98	96		2634,2628,2601,2625,2640,2637,2628,2628,2625,2625,2628,2628,2628,2613,2625,2619,2601,2622,2619,2646,2664,2628,2082,234	0	1	5	dbSNP_134	96	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGC5,PCDHGC4,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_018928.2,NM_018929.2,NM_032088.1,NM_032092.1,NM_032403.1	,,,,,,,,,,,,,,,,,,,,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,,,,,,,,,,,,,,,,,,,,	878/935,876/933,867/924,875/932,880/937,879/936,876/933,876/933,875/932,875/932,876/933,876/933,876/933,871/928,875/932,873/930,867/924,874/931,873/930,882/939,888/945,876/933,694/751,78/135	140890569	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	56097			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2628C>T	5.37:g.140890569C>T			O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	CCDS4260.1																																																																																				0.617	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		T	140890569	C	T	140890569	2	4	575	1	0	0	0	0	0	0	0	1	11552	767	27	1		1	PCDHGA1	5	140890569	Silent	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	92360	140890569	40024691	33	31308											
G3BP1	10146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	151166245	151166245	+	Silent	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr5:151166245C>T	ENST00000394123.3	+	2	209	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	G3BP1_ENST00000356245.3_Silent_p.L22L|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	22	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.L22L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTATTACACACTGCTGAACCA	0.463																																																1	Substitution - coding silent(1)	kidney(1)											135	127	130					5																	151166245		2203	4300	6503	SO:0001819	synonymous_variant	10146			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.64C>T	5.37:g.151166245C>T			Q5HYE9	Silent	SNP	ENST00000394123.3	37	CCDS4319.1																																																																																				0.463	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		T	151166245	C	T	151166245	2	4	575	1	0	0	0	0	0	0	0	1	6143	564	20	2		2	G3BP1	5	151166245	Silent	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	10275676	151166245	29749015	34	31309											
DOCK2	1794	broad.mit.edu	37	5	169494626	169494626	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr5:169494626T>A	ENST00000256935.8	+	45	4660	c.4580T>A	c.(4579-4581)cTc>cAc	p.L1527H	DOCK2_ENST00000520908.1_Missense_Mutation_p.L1019H|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L588H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1527	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.L1527H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCAACCCACTCTCCATGCTC	0.522																																																1	Substitution - Missense(1)	kidney(1)											178	163	168					5																	169494626		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4580T>A	5.37:g.169494626T>A	ENSP00000256935:p.Leu1527His		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354110	0.82243	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.37411	1.2;1.2;1.2	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.69958	0.3169	H	0.94542	3.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80004	-0.1564	10	0.87932	D	0	.	14.6914	0.69087	0.0:0.0:0.0:1.0	.	1019;83;1527	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	H	1527;1019;588	ENSP00000256935:L1527H;ENSP00000429283:L1019H;ENSP00000438827:L588H	ENSP00000256935:L1527H	L	+	2	0	DOCK2	169427204	1.000000	0.71417	0.151000	0.22473	0.863000	0.49368	7.993000	0.88291	1.933000	0.56026	0.460000	0.39030	CTC		0.522	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		A	169494626	T	A	169494626	3	1	575	1	0	0	0	0	1	0	0	0	4689	1551	54	5	4758	5	DOCK2	5	169494626	Missense_Mutation	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	18328381	169494626	11420634	35	31310											
B3GALT4	8705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33246066	33246066	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr6:33246066G>T	ENST00000451237.1	+	1	1150	c.870G>T	c.(868-870)gaG>gaT	p.E290D		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	290					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.E290D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TCCCATTAGAGGATGTCTTTG	0.617																																																1	Substitution - Missense(1)	kidney(1)											61	62	62					6																	33246066		2203	4300	6503	SO:0001583	missense	8705			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.870G>T	6.37:g.33246066G>T	ENSP00000390784:p.Glu290Asp			Missense_Mutation	SNP	ENST00000451237.1	37	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471303	0.43942	.	.	ENSG00000235863	ENST00000451237	T	0.54866	0.55	4.45	0.462	0.16695	.	0.000000	0.64402	D	0.000001	T	0.37461	0.1004	L	0.37507	1.11	0.45946	D	0.99877	D	0.76494	0.999	D	0.87578	0.998	T	0.36578	-0.9742	10	0.09843	T	0.71	.	8.1306	0.31024	0.3624:0.0:0.6376:0.0	.	290	O96024	B3GT4_HUMAN	D	290	ENSP00000390784:E290D	ENSP00000390784:E290D	E	+	3	2	B3GALT4	33354044	1.000000	0.71417	0.982000	0.44146	0.569000	0.35902	1.105000	0.31086	-0.109000	0.12044	-0.366000	0.07423	GAG		0.617	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			T	33246066	G	T	33246066	3	4	575	1	0	0	0	0	1	0	0	0	1249	991	35	4	872	4	B3GALT4	6	33246066	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08		33246066	137869001	36	31311											
PRIM2	5558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	57185282	57185282	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr6:57185282T>A	ENST00000607273.1	+	3	269	c.182T>A	c.(181-183)gTg>gAg	p.V61E	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	61					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.V61E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AATCTTGGAGTGAGCTATGTG	0.323																																																1	Substitution - Missense(1)	kidney(1)											55	53	54					6																	57185282		1809	4073	5882	SO:0001583	missense	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.182T>A	6.37:g.57185282T>A	ENSP00000475738:p.Val61Glu		Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000607273.1	37																																																																																					0.323	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		A	57185282	T	A	57185282	3	1	575	1	0	0	0	0	1	0	0	0	12496	1696	59	5	188	5	PRIM2	6	57185282	Missense_Mutation	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	23939216	57185282	113929785	37	31312											
IMPG1	3617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	76715159	76715159	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr6:76715159G>A	ENST00000369950.3	-	10	1169	c.980C>T	c.(979-981)tCc>tTc	p.S327F	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.S327F(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AATTTTGTTGGAATCAAAAGA	0.453																																					Pancreas(37;839 1141 2599 26037)											1	Substitution - Missense(1)	kidney(1)											153	139	144					6																	76715159		2203	4300	6503	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.980C>T	6.37:g.76715159G>A	ENSP00000358966:p.Ser327Phe			Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901147	0.52227	.	.	ENSG00000112706	ENST00000369950	T	0.36699	1.24	5.82	4.93	0.64822	SEA (2);	0.000000	0.64402	D	0.000006	T	0.33614	0.0869	M	0.75777	2.31	0.80722	D	1	B	0.30664	0.289	B	0.40477	0.33	T	0.24083	-1.0170	10	0.44086	T	0.13	.	14.0544	0.64759	0.0:0.0:0.8489:0.1511	.	327	Q17R60	IMPG1_HUMAN	F	327	ENSP00000358966:S327F	ENSP00000358966:S327F	S	-	2	0	IMPG1	76771879	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.967000	0.40491	1.411000	0.46957	0.585000	0.79938	TCC		0.453	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		A	76715159	G	A	76715159	3	1	575	1	0	0	0	0	1	0	0	0	7730	1174	41	2	1445	2	IMPG1	6	76715159	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	19529877	76715159	94399908	38	31313											
AIM1	202	broad.mit.edu;hgsc.bcm.edu	37	6	106987378	106987378	+	Missense_Mutation	SNP	A	A	G	rs573858590		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr6:106987378A>G	ENST00000369066.3	+	7	4082	c.3595A>G	c.(3595-3597)Att>Gtt	p.I1199V	AIM1_ENST00000535438.1_5'Flank	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.I1199V(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGCGTACATTGGATCCAT	0.443													A|||	1	0.000199681	0.0	0.0	5008	,	,		19373	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											133	128	130					6																	106987378		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3595A>G	6.37:g.106987378A>G	ENSP00000358062:p.Ile1199Val		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744816	0.49151	.	.	ENSG00000112297	ENST00000369066	T	0.75589	-0.95	5.66	5.66	0.87406	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.204155	0.50627	D	0.000103	T	0.56337	0.1978	N	0.20445	0.575	0.80722	D	1	B	0.27140	0.169	B	0.41236	0.351	T	0.58429	-0.7638	10	0.21540	T	0.41	.	15.9029	0.79397	1.0:0.0:0.0:0.0	.	1199	Q9Y4K1	AIM1_HUMAN	V	1199	ENSP00000358062:I1199V	ENSP00000358062:I1199V	I	+	1	0	AIM1	107094071	1.000000	0.71417	0.996000	0.52242	0.879000	0.50718	2.755000	0.47540	2.147000	0.66899	0.533000	0.62120	ATT		0.443	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			G	106987378	A	G	106987378	3	3	575	1	0	0	0	0	1	0	0	0	430	217	8	3	3621	3	AIM1	6	106987378	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	30272219	106987378	64127689	39	31314											
TMEM195	392636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	15433778	15433778	+	Silent	SNP	T	T	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:15433778T>C	ENST00000342526.3	-	6	805	c.636A>G	c.(634-636)gaA>gaG	p.E212E	AGMO_ENST00000498264.1_5'UTR	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	212					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.E212E(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TAAGAATCAGTTCCAAAGGAC	0.299																																																1	Substitution - coding silent(1)	kidney(1)											137	143	141					7																	15433778		2203	4295	6498	SO:0001819	synonymous_variant	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.636A>G	7.37:g.15433778T>C			A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	CCDS34604.1																																																																																				0.299	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		C	15433778	T	C	15433778	2	2	575	1	0	0	0	0	0	0	0	1	16122	1722	60	3		3	TMEM195	7	15433778	Silent	SNP	T	TCGA-CZ-4859-01A-02D-1429-08		15433778	143704885	40	31315											
ABCB5	340273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	20739468	20739468	+	Silent	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:20739468A>G	ENST00000404938.2	+	18	2827	c.2175A>G	c.(2173-2175)aaA>aaG	p.K725K	ABCB5_ENST00000258738.6_Silent_p.K280K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	725	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.K725K(1)|p.K280K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATAATGATAAAACCACATTAA	0.294																																																2	Substitution - coding silent(2)	kidney(2)											131	124	126					7																	20739468		2203	4299	6502	SO:0001819	synonymous_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2175A>G	7.37:g.20739468A>G			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																				0.294	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		G	20739468	A	G	20739468	2	3	575	1	0	0	0	0	0	0	0	1	44	11	1	3		3	ABCB5	7	20739468	Silent	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	5305690	20739468	138399195	41	31316											
POLM	27434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	44113448	44113448	+	Silent	SNP	T	T	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:44113448T>C	ENST00000242248.5	-	9	1349	c.1248A>G	c.(1246-1248)agA>agG	p.R416R	POLM_ENST00000335195.6_Silent_p.R379R|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000395831.3_Silent_p.R336R	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	416					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R416R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAAGTCCACTCTCACGGCCT	0.627								DNA polymerases (catalytic subunits)																																								1	Substitution - coding silent(1)	kidney(1)											58	67	64					7																	44113448		2203	4300	6503	SO:0001819	synonymous_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1248A>G	7.37:g.44113448T>C			D3DVK4|Q6P5X8|Q86WQ9	Silent	SNP	ENST00000242248.5	37	CCDS34625.1																																																																																				0.627	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		C	44113448	T	C	44113448	2	2	575	1	0	0	0	0	0	0	0	1	12208	1548	54	3		3	POLM	7	44113448	Silent	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	23373980	44113448	115025215	42	31317											
ABCA13	154664	broad.mit.edu;ucsc.edu	37	7	48682951	48682951	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:48682951G>A	ENST00000435803.1	+	60	14929	c.14905G>A	c.(14905-14907)Gac>Aac	p.D4969N	ABCA13_ENST00000544596.1_Missense_Mutation_p.D699N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4969					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D4914N(1)|p.D4969N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACTGTTTCTGACCACTTGAA	0.308																																																2	Substitution - Missense(2)	kidney(2)											192	184	187					7																	48682951		1825	4083	5908	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14905G>A	7.37:g.48682951G>A	ENSP00000411096:p.Asp4969Asn		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278567	0.59758	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.82984	-1.67;-1.67;-1.67	5.39	5.39	0.77823	.	0.000000	0.45867	D	0.000326	D	0.86234	0.5884	L	0.37897	1.145	0.43824	D	0.996392	B;P;D	0.89917	0.151;0.681;1.0	B;B;D	0.83275	0.108;0.388;0.996	T	0.83174	-0.0092	10	0.22706	T	0.39	.	15.8642	0.79052	0.0:0.0:1.0:0.0	.	699;2671;4969	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	N	4969;742;699	ENSP00000411096:D4969N;ENSP00000391042:D742N;ENSP00000442634:D699N	ENSP00000391042:D742N	D	+	1	0	ABCA13	48653497	1.000000	0.71417	0.982000	0.44146	0.125000	0.20455	3.069000	0.50026	2.513000	0.84729	0.655000	0.94253	GAC		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48682951	G	A	48682951	3	1	575	1	0	0	0	0	1	0	0	0	31	1290	45	2	14972	2	ABCA13	7	48682951	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	4569503	48682951	110455712	43	31318											
RUNDC3B	154661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	87445570	87445570	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:87445570G>A	ENST00000338056.3	+	11	1680	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.M357I|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.M406I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	423								p.M423I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TAAATGTAATGAGTGAAGGTA	0.368																																																1	Substitution - Missense(1)	kidney(1)											73	69	70					7																	87445570		2203	4300	6503	SO:0001583	missense	154661				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1269G>A	7.37:g.87445570G>A	ENSP00000337732:p.Met423Ile		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	8.959	0.970178	0.18659	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.41065	1.01;1.01;1.01	5.44	-4.88	0.03113	.	0.351137	0.29501	N	0.011978	T	0.13200	0.0320	N	0.08118	0	0.22424	N	0.999117	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.10428	-1.0630	10	0.20519	T	0.43	-4.9544	1.586	0.02644	0.3108:0.1816:0.0881:0.4195	.	406;406;279;357;423	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	I	423;357;406	ENSP00000337732:M423I;ENSP00000420394:M357I;ENSP00000378149:M406I	ENSP00000337732:M423I	M	+	3	0	RUNDC3B	87283506	0.771000	0.28555	0.722000	0.30670	0.744000	0.42396	-0.295000	0.08298	-0.585000	0.05905	-1.319000	0.01295	ATG		0.368	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		A	87445570	G	A	87445570	3	1	575	1	0	0	0	0	1	0	0	0	13751	1290	45	2	1311	2	RUNDC3B	7	87445570	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	38762619	87445570	71693093	44	31319											
MGAM	8972	hgsc.bcm.edu	37	7	141760115	141760115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr7:141760115delG	ENST00000549489.2	+	34	4159	c.4064delG	c.(4063-4065)tggfs	p.W1355fs	MGAM_ENST00000475668.2_Frame_Shift_Del_p.W1355fs	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1355	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCATAGGTCTGGCCTGATTTT	0.428																																																0													286	241	256					7																	141760115		2058	4206	6264	SO:0001589	frameshift_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4064delG	7.37:g.141760115delG	ENSP00000447378:p.Trp1355fs		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000549489.2	37	CCDS47727.1																																																																																				0.428	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			-	141760115	G	-	141760115	7	5	575	1	0	1	0	1	0	0	0	0	9543	1357	47	0	4194	0	MGAM	7	141760115	Frame_Shift_Del	DEL	G	TCGA-CZ-4859-01A-02D-1429-08	54314545	141760115	17378548	45	31320											
IARS	3376	broad.mit.edu;ucsc.edu	37	9	95027315	95027315	+	Silent	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr9:95027315G>A	ENST00000375643.3	-	16	1862	c.1596C>T	c.(1594-1596)agC>agT	p.S532S	IARS_ENST00000447699.2_Silent_p.S422S|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Silent_p.S532S	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	532					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.S532S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CATAGGGCATGCTGCCACTCT	0.493																																																1	Substitution - coding silent(1)	kidney(1)											88	71	77					9																	95027315		2203	4300	6503	SO:0001819	synonymous_variant	3376			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1596C>T	9.37:g.95027315G>A			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	ENST00000375643.3	37	CCDS6694.1																																																																																				0.493	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		A	95027315	G	A	95027315	2	1	575	1	0	0	0	0	0	0	0	1	7475	1310	46	2		2	IARS	9	95027315	Silent	SNP	G	TCGA-CZ-4859-01A-02D-1429-08		95027315	46186116	46	31321											
FAM120A	23196	broad.mit.edu	37	9	96320221	96320221	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr9:96320221A>C	ENST00000277165.6	+	14	2791	c.2597A>C	c.(2596-2598)tAc>tCc	p.Y866S	FAM120A_ENST00000340893.4_Missense_Mutation_p.Y866S|FAM120A_ENST00000333936.5_Missense_Mutation_p.Y894S	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	866	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.Y866S(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGCCCTTCTACCCTGCCTCT	0.647																																																1	Substitution - Missense(1)	kidney(1)											45	36	39					9																	96320221		2203	4300	6503	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2597A>C	9.37:g.96320221A>C	ENSP00000277165:p.Tyr866Ser		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.264104	0.59431	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.44482	1.38;1.4;1.45;0.92	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000004	T	0.58779	0.2146	L	0.46157	1.445	0.48511	D	0.999664	P;D;B	0.76494	0.592;0.999;0.119	B;D;B	0.80764	0.099;0.994;0.099	T	0.60291	-0.7292	10	0.62326	D	0.03	-15.0554	16.0487	0.80740	1.0:0.0:0.0:0.0	.	866;894;866	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	S	866;894;866;288	ENSP00000277165:Y866S;ENSP00000334918:Y894S;ENSP00000344698:Y866S;ENSP00000412440:Y288S	ENSP00000277165:Y866S	Y	+	2	0	FAM120A	95360042	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	3.616000	0.54174	2.189000	0.69895	0.533000	0.62120	TAC		0.647	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		C	96320221	A	C	96320221	3	2	575	1	0	0	0	0	1	0	0	0	5417	391	14	5	2651	5	FAM120A	9	96320221	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	1292906	96320221	44893210	47	31322											
KIAA1529	100499483	hgsc.bcm.edu	37	9	100079370	100079371	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr9:100079370_100079371insA	ENST00000357054.1	+	23	2303_2304	c.1368_1369insA	c.(1369-1371)aacfs	p.N457fs	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Frame_Shift_Ins_p.N318fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.N457fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.N315fs|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.N318fs|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	457						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCCTGCTGGGCAACCGGAAGGC	0.619																																																0																																										SO:0001589	frameshift_variant	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1370dupA	9.37:g.100079372_100079372dupA	ENSP00000349562:p.Asn457fs		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Frame_Shift_Ins	INS	ENST00000357054.1	37																																																																																					0.619	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		A	100079371	-	A	100079370	7	5	575	1	0	1	1	0	0	0	0	0	8242	697	25	0	1414	0	KIAA1529	9	100079370	Frame_Shift_Ins	INS	-	TCGA-CZ-4859-01A-02D-1429-08	3759149	100079370	41134061	48	31323											
ANKRD30A	91074	broad.mit.edu	37	10	37478443	37478443	+	Missense_Mutation	SNP	A	A	G	rs199828555	byFrequency	TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:37478443A>G	ENST00000602533.1	+	25	2401	c.2302A>G	c.(2302-2304)Acg>Gcg	p.T768A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T887A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	824					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T768A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCCAAGGCTACGCATCAAAA	0.289													.|||	43	0.00858626	0.0098	0.0086	5008	,	,		14201	0.005		0.0179	False		,,,				2504	0.001															2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)											13	10	11					10																	37478443		386	1018	1404	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2302A>G	10.37:g.37478443A>G	ENSP00000473551:p.Thr768Ala		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	2.496	-0.316242	0.05422	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06068	3.35;3.35	0.746	-1.49	0.08718	.	.	.	.	.	T	0.08447	0.0210	L	0.46157	1.445	0.09310	N	1	P	0.40332	0.713	P	0.48654	0.585	T	0.28235	-1.0050	9	0.31617	T	0.26	.	4.1534	0.10249	0.4946:0.0:0.5054:0.0	.	824	Q9BXX3	AN30A_HUMAN	A	768;887	ENSP00000354432:T768A;ENSP00000363792:T887A	ENSP00000354432:T768A	T	+	1	0	ANKRD30A	37518449	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.108000	0.10857	-0.775000	0.04584	-0.537000	0.04273	ACG		0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		G	37478443	A	G	37478443	3	3	575	1	0	0	0	0	1	0	0	0	658	391	14	3	2400	3	ANKRD30A	10	37478443	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08		37478443	98056304	49	31324											
NCOA4	8031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	51584968	51584968	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:51584968A>C	ENST00000443446.1	+	8	1296	c.1067A>C	c.(1066-1068)aAa>aCa	p.K356T	NCOA4_ENST00000430396.2_Missense_Mutation_p.K256T|NCOA4_ENST00000344348.6_Missense_Mutation_p.K356T|NCOA4_ENST00000452682.1_Missense_Mutation_p.K372T|NCOA4_ENST00000374082.1_Missense_Mutation_p.K356T|NCOA4_ENST00000414907.2_Missense_Mutation_p.K190T|NCOA4_ENST00000374087.4_Missense_Mutation_p.K356T|NCOA4_ENST00000438493.1_Missense_Mutation_p.K372T	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	356					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.K372T(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AACCAGCCCAAAGGTGTGGAG	0.473			T	RET	papillary thyroid																																		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	1	Substitution - Missense(1)	kidney(1)											49	49	49					10																	51584968		2203	4300	6503	SO:0001583	missense	8031			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1067A>C	10.37:g.51584968A>C	ENSP00000390713:p.Lys356Thr		A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790981	0.50102	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	6.03	1.32	0.21799	.	0.356073	0.35805	N	0.002979	T	0.34948	0.0915	L	0.54323	1.7	0.29000	N	0.887532	B;B;B;B	0.29988	0.264;0.162;0.264;0.162	B;B;B;B	0.26693	0.072;0.05;0.05;0.05	T	0.17137	-1.0379	9	.	.	.	-8.8526	5.4941	0.16793	0.5908:0.1359:0.2733:0.0	.	256;372;372;356	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	T	372;372;256;356;190;356;356;356	ENSP00000405146:K372T;ENSP00000395465:K372T;ENSP00000393053:K256T;ENSP00000363200:K356T;ENSP00000411018:K190T;ENSP00000344552:K356T;ENSP00000363195:K356T;ENSP00000390713:K356T	.	K	+	2	0	NCOA4	51254974	0.895000	0.30542	0.999000	0.59377	0.996000	0.88848	0.531000	0.23052	0.203000	0.20529	0.533000	0.62120	AAA		0.473	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		C	51584968	A	C	51584968	3	2	575	1	0	0	0	0	1	0	0	0	10233	14	1	5	1145	5	NCOA4	10	51584968	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	14106525	51584968	83949779	50	31325											
PLCE1	51196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	95791726	95791726	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:95791726A>G	ENST00000371380.3	+	1	1158	c.923A>G	c.(922-924)gAt>gGt	p.D308G	PLCE1_ENST00000260766.3_Missense_Mutation_p.D308G			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	308					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.D308G(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATAATTGTGATGATGTAGAA	0.373																																																1	Substitution - Missense(1)	kidney(1)											128	124	125					10																	95791726		1860	4085	5945	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.923A>G	10.37:g.95791726A>G	ENSP00000360431:p.Asp308Gly		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378687	0.24944	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.32515	1.45;1.45	5.28	5.28	0.74379	Ras guanine nucleotide exchange factor, domain (1);	0.435832	0.19403	N	0.115132	T	0.13329	0.0323	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09079	-1.0691	10	0.40728	T	0.16	.	6.6586	0.23000	0.7674:0.1553:0.0773:0.0	.	308;308	B7ZM61;Q9P212	.;PLCE1_HUMAN	G	308	ENSP00000260766:D308G;ENSP00000360431:D308G	ENSP00000260766:D308G	D	+	2	0	PLCE1	95781716	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	4.782000	0.62396	2.008000	0.58898	0.533000	0.62120	GAT		0.373	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		G	95791726	A	G	95791726	3	3	575	1	0	0	0	0	1	0	0	0	12036	333	12	3	925	3	PLCE1	10	95791726	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	44206758	95791726	39743021	51	31326											
SLC25A28	81894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	101373512	101373512	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:101373512T>G	ENST00000370495.4	-	2	489	c.461A>C	c.(460-462)aAg>aCg	p.K154T	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	154					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.K154T(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CTTTTTTAACTTTTCGTAGCA	0.517																																																1	Substitution - Missense(1)	kidney(1)											66	70	69					10																	101373512		1906	4115	6021	SO:0001583	missense	81894			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"Solute carriers"	23472	protein-coding gene	gene with protein product	"mitoferrin 2"	609767	"solute carrier family 25, member 28"			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.461A>C	10.37:g.101373512T>G	ENSP00000359526:p.Lys154Thr		Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733220	0.48939	.	.	ENSG00000155287	ENST00000370495	T	0.77750	-1.12	5.14	5.14	0.70334	Mitochondrial carrier domain (2);	0.192902	0.43919	D	0.000513	T	0.70193	0.3196	L	0.31752	0.955	0.53688	D	0.999978	P	0.41188	0.741	B	0.43018	0.405	T	0.67783	-0.5581	10	0.22109	T	0.4	-18.1225	15.1236	0.72465	0.0:0.0:0.0:1.0	.	154	Q96A46	MFRN2_HUMAN	T	154	ENSP00000359526:K154T	ENSP00000359526:K154T	K	-	2	0	SLC25A28	101363502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.754000	0.68743	2.161000	0.67846	0.459000	0.35465	AAG		0.517	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		G	101373512	T	G	101373512	3	3	575	1	0	0	0	0	1	0	0	0	14497	1609	56	5	645	5	SLC25A28	10	101373512	Missense_Mutation	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	5581786	101373512	34161235	52	31327											
C10orf79	80217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105924006	105924007	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:105924006_105924007insA	ENST00000357060.3	-	24	3206_3207	c.3091_3092insT	c.(3091-3093)tatfs	p.Y1031fs	WDR96_ENST00000428666.1_Frame_Shift_Ins_p.Y1032fs	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTTTGTTTATATGCAGCGTCA	0.317																																																0																																										SO:0001589	frameshift_variant	0																														ENST00000357060.3:c.3092dupT	10.37:g.105924007_105924007dupA	ENSP00000349568:p.Tyr1031fs			Frame_Shift_Ins	INS	ENST00000357060.3	37	CCDS31281.1																																																																																				0.317	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	105924007	-	A	105924006	7	5	575	1	0	1	1	0	0	0	0	0	1620	1406	49	0	1965	0	C10orf79	10	105924006	Frame_Shift_Ins	INS	-	TCGA-CZ-4859-01A-02D-1429-08	4550494	105924006	29610741	53	31328	231	2									
C10orf79	80217	hgsc.bcm.edu	37	10	105924008	105924008	+	Silent	SNP	T	T	C	rs146641264	byFrequency	TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr10:105924008T>C	ENST00000357060.3	-	24	3205	c.3090A>G	c.(3088-3090)gcA>gcG	p.A1030A	WDR96_ENST00000428666.1_Silent_p.A1031A	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTGTTTATATGCAGCGTCAA	0.313																																																0								T		2,4404	4.2+/-10.8	0,2,2201	75	65	68		3090	0.8	1	10	dbSNP_134	68	0,8598		0,0,4299	no	coding-synonymous	WDR96	NM_025145.5		0,2,6500	CC,CT,TT		0.0,0.0454,0.0154		1030/1666	105924008	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	0																														ENST00000357060.3:c.3090A>G	10.37:g.105924008T>C				Silent	SNP	ENST00000357060.3	37	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	T	3.573	-0.087311	0.07097	4.54E-4	0.0	ENSG00000197748	ENST00000434629	.	.	.	6.06	0.817	0.18773	.	.	.	.	.	T	0.51398	0.1672	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	T	0.37478	-0.9704	4	.	.	.	.	5.4363	0.16484	0.1018:0.0661:0.4247:0.4074	.	.	.	.	R	391	.	.	H	-	2	0	WDR96	105913998	0.016000	0.18221	0.998000	0.56505	0.304000	0.27724	-1.301000	0.02749	0.164000	0.19529	-0.299000	0.09455	CAT		0.313	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	105924008	T	C	105924008	2	2	575	1	0	0	0	0	0	0	0	1	1620	1451	51	3		3	C10orf79	10	105924008	Silent	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	2	105924008	29610739	54	31329	231	2									
HBG1	3047	hgsc.bcm.edu	37	11	5271024	5271024	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:5271024delA	ENST00000330597.3	-	1	98	c.11delT	c.(10-12)ttcfs	p.F4fs		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	4					blood coagulation (GO:0007596)	cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCTCTGTGAAATGACCCAT	0.512											OREG0003735	type=REGULATORY REGION|Gene=HBG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Ovarian(117;2080 2193 33416 49679)											0													1	1	1					11																	5271024		254	744	998	SO:0001589	frameshift_variant	3047			M91036	CCDS7754.1	11p15.5	2014-05-19			ENSG00000213934	ENSG00000213934			4831	protein-coding gene	gene with protein product		142200				2649166	Standard	NM_000559		Approved	HBG-T2	uc001mah.1	P69891	OTTHUMG00000066681	ENST00000330597.3:c.11delT	11.37:g.5271024delA	ENSP00000327431:p.Phe4fs	625	P02096|P62027|Q549G1|Q8TDA1|Q96FH7	Frame_Shift_Del	DEL	ENST00000330597.3	37	CCDS7754.1																																																																																				0.512	HBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142982.1	NM_000559		-	5271024	A	-	5271024	7	5	575	1	0	1	0	1	0	0	0	0	6984	246	9	0	444	0	HBG1	11	5271024	Frame_Shift_Del	DEL	A	TCGA-CZ-4859-01A-02D-1429-08		5271024	129735492	55	31330											
HBG2	3048	hgsc.bcm.edu	37	11	5275948	5275948	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:5275948delA	ENST00000380259.2	-	6	1251	c.11delT	c.(10-12)ttcfs	p.F4fs	HBG2_ENST00000336906.4_Frame_Shift_Del_p.F4fs|HBG2_ENST00000380252.1_Intron			P69892	HBG2_HUMAN	hemoglobin, gamma G	4					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCTCTGTGAAATGACCCAT	0.512																																																0													2	2	2					11																	5275948		1008	2237	3245	SO:0001589	frameshift_variant	3048			BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.11delT	11.37:g.5275948delA	ENSP00000369609:p.Phe4fs		A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Frame_Shift_Del	DEL	ENST00000380259.2	37	CCDS7755.1																																																																																				0.512	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		-	5275948	A	-	5275948	7	5	575	1	0	1	0	1	0	0	0	0	6985	246	9	0	444	0	HBG2	11	5275948	Frame_Shift_Del	DEL	A	TCGA-CZ-4859-01A-02D-1429-08	4924	5275948	129730568	56	31331											
GAS2	2620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22707336	22707336	+	Splice_Site	SNP	G	G	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:22707336G>C	ENST00000454584.2	+	3	572		c.e3+1		GAS2_ENST00000433790.1_Splice_Site|GAS2_ENST00000533092.1_Splice_Site|GAS2_ENST00000278187.3_Splice_Site|RNA5SP338_ENST00000410495.1_RNA	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2						apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)		p.?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GCCCACAAAGGTAAAAGATCC	0.358																																																1	Unknown(1)	kidney(1)											67	62	63					11																	22707336		2203	4300	6503	SO:0001630	splice_region_variant	2620			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.267+1G>C	11.37:g.22707336G>C			B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Splice_Site	SNP	ENST00000454584.2	37	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809363	0.70797	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7587	0.88457	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAS2	22663912	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.334000	0.79224	2.711000	0.92665	0.655000	0.94253	.		0.358	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553	Intron	C	22707336	G	C	22707336	5	2	575	1	0	0	0	0	0	0	1	0	6247	1275	44	4	274	4	GAS2	11	22707336	Splice_Site	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	17431388	22707336	112299180	57	31332											
KIF18A	81930	broad.mit.edu;ucsc.edu	37	11	28045366	28045366	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:28045366C>T	ENST00000263181.6	-	16	2826	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	846					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.V846I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCAGAATTTACGTCTGCAGTT	0.318																																																1	Substitution - Missense(1)	kidney(1)											131	118	123					11																	28045366		2201	4299	6500	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2536G>A	11.37:g.28045366C>T	ENSP00000263181:p.Val846Ile		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	0.655	-0.808154	0.02819	.	.	ENSG00000121621	ENST00000263181	T	0.72167	-0.63	5.42	0.839	0.18907	.	1.607670	0.03335	N	0.193980	T	0.55513	0.1925	N	0.24115	0.695	0.09310	N	1	B	0.24368	0.102	B	0.17098	0.017	T	0.40440	-0.9563	10	0.35671	T	0.21	.	5.3447	0.16002	0.1289:0.6138:0.1706:0.0867	.	846	Q8NI77	KI18A_HUMAN	I	846	ENSP00000263181:V846I	ENSP00000263181:V846I	V	-	1	0	KIF18A	28001942	0.001000	0.12720	0.005000	0.12908	0.011000	0.07611	0.215000	0.17562	0.339000	0.23719	-1.332000	0.01269	GTA		0.318	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		T	28045366	C	T	28045366	3	4	575	1	0	0	0	0	1	0	0	0	8282	536	19	1	168	1	KIF18A	11	28045366	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	5338030	28045366	106961150	58	31333											
TUT1	64852	broad.mit.edu;hgsc.bcm.edu	37	11	62348882	62348882	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:62348882C>G	ENST00000476907.1	-	3	1256	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	MIR3654_ENST00000496634.2_Missense_Mutation_p.E189Q|TUT1_ENST00000308436.7_Missense_Mutation_p.E227Q			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	189					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.E227Q(1)|p.E189Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTGAAGACCTCCTGCATCAGG	0.587																																																2	Substitution - Missense(2)	kidney(2)											39	37	38					11																	62348882		2202	4299	6501	SO:0001583	missense	64852			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.565G>C	11.37:g.62348882C>G	ENSP00000419607:p.Glu189Gln		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37		.	.	.	.	.	.	.	.	.	.	C	31	5.077471	0.94000	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000494385	T;T;T	0.42513	0.97;0.97;0.97	5.38	5.38	0.77491	.	0.494197	0.22706	N	0.056638	T	0.50752	0.1634	N	0.25380	0.74	0.39511	D	0.968368	D	0.89917	1.0	D	0.87578	0.998	T	0.40869	-0.9540	10	0.20046	T	0.44	-16.1393	16.681	0.85291	0.0:1.0:0.0:0.0	.	227	F5H0R1	.	Q	227;189;103	ENSP00000308000:E227Q;ENSP00000419607:E189Q;ENSP00000420739:E103Q	ENSP00000441670:E189Q	E	-	1	0	TUT1	62105458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.983000	0.76180	2.516000	0.84829	0.555000	0.69702	GAG		0.587	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		G	62348882	C	G	62348882	3	3	575	1	0	0	0	0	1	0	0	0	16785	864	30	4	2087	4	TUT1	11	62348882	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	34303516	62348882	72657634	59	31334											
NOX4	50507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	89223701	89223701	+	Silent	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:89223701A>G	ENST00000263317.4	-	2	316	c.78T>C	c.(76-78)aaT>aaC	p.N26N	NOX4_ENST00000393282.2_Silent_p.N26N|NOX4_ENST00000535633.1_Silent_p.N2N|NOX4_ENST00000375979.3_Silent_p.N26N|NOX4_ENST00000343727.5_Silent_p.N2N|NOX4_ENST00000424319.1_Silent_p.N2N|NOX4_ENST00000525196.1_Silent_p.N26N|NOX4_ENST00000527956.1_Silent_p.N2N|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000534731.1_Silent_p.N26N|NOX4_ENST00000413594.2_Silent_p.N47N|NOX4_ENST00000542487.1_Silent_p.N2N|NOX4_ENST00000532825.1_Silent_p.N2N|NOX4_ENST00000531342.1_Silent_p.N26N|NOX4_ENST00000528341.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	26					bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.N26N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAAGCAGGACATTCATGGAGA	0.388																																																1	Substitution - coding silent(1)	kidney(1)											123	120	121					11																	89223701		2201	4299	6500	SO:0001819	synonymous_variant	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.78T>C	11.37:g.89223701A>G			A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	CCDS8285.1																																																																																				0.388	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		G	89223701	A	G	89223701	2	3	575	1	0	0	0	0	0	0	0	1	10560	214	8	3		3	NOX4	11	89223701	Silent	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	26874819	89223701	45782815	60	31335											
APLP2	334	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	129999984	129999984	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr11:129999984G>C	ENST00000263574.5	+	11	1579	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H	APLP2_ENST00000528499.1_Missense_Mutation_p.D447H|APLP2_ENST00000338167.5_Missense_Mutation_p.D503H|APLP2_ENST00000539648.1_Missense_Mutation_p.D291H|APLP2_ENST00000278756.7_Missense_Mutation_p.D513H|APLP2_ENST00000345598.5_Missense_Mutation_p.D274H|APLP2_ENST00000543137.1_Missense_Mutation_p.D410H	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	503					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.D503H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGAGAACAAAGATCGCTTACA	0.453																																																1	Substitution - Missense(1)	kidney(1)											169	148	155					11																	129999984		2201	4297	6498	SO:0001583	missense	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1507G>C	11.37:g.129999984G>C	ENSP00000263574:p.Asp503His		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871676	0.91587	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.33	5.33	0.75918	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.87900	2.915	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	0.995;0.999;0.994;1.0;0.998;0.994;0.995	T	0.81595	-0.0861	10	0.87932	D	0	-37.5512	18.0139	0.89232	0.0:0.0:1.0:0.0	.	291;503;447;274;441;447;503	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	H	447;291;503;274;503;513;410	ENSP00000435914:D447H;ENSP00000443728:D291H;ENSP00000263574:D503H;ENSP00000263575:D274H;ENSP00000345444:D503H;ENSP00000278756:D513H;ENSP00000444122:D410H	ENSP00000263574:D503H	D	+	1	0	APLP2	129505194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.506000	0.84524	0.655000	0.94253	GAT		0.453	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		C	129999984	G	C	129999984	3	2	575	1	0	0	0	0	1	0	0	0	779	942	33	4	1549	4	APLP2	11	129999984	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	40776283	129999984	5006532	61	31336											
LRP1	4035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57590881	57590881	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr12:57590881T>A	ENST00000243077.3	+	56	9475	c.9009T>A	c.(9007-9009)taT>taA	p.Y3003*	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3003	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.Y3003*(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGGCAGCTATAAGTGTCTGT	0.637																																																1	Substitution - Nonsense(1)	kidney(1)											97	93	94					12																	57590881		2203	4300	6503	SO:0001587	stop_gained	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9009T>A	12.37:g.57590881T>A	ENSP00000243077:p.Tyr3003*		Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	53	20.367418	0.99930	.	.	ENSG00000123384	ENST00000243077	.	.	.	5.34	4.45	0.53987	.	0.083615	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6191	0.56594	0.0:0.9187:0.0:0.0813	.	.	.	.	X	3003	.	ENSP00000243077:Y3003X	Y	+	3	2	LRP1	55877148	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.730000	0.62015	1.488000	0.48433	-0.385000	0.06624	TAT		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		A	57590881	T	A	57590881	4	1	575	1	0	0	0	0	0	1	0	0	8953	1413	49	5	9231	5	LRP1	12	57590881	Nonsense_Mutation	SNP	T	TCGA-CZ-4859-01A-02D-1429-08		57590881	76261014	62	31337											
APPL2	55198	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	105589090	105589090	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr12:105589090G>A	ENST00000258530.3	-	14	1415	c.1190C>T	c.(1189-1191)gCa>gTa	p.A397V	APPL2_ENST00000539978.2_Missense_Mutation_p.A354V|APPL2_ENST00000551662.1_Missense_Mutation_p.A403V|APPL2_ENST00000549573.1_5'Flank	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.A397V(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GGGAGTCACTGCTTGCAGAGC	0.448																																																1	Substitution - Missense(1)	kidney(1)											141	119	126					12																	105589090		2203	4300	6503	SO:0001583	missense	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1190C>T	12.37:g.105589090G>A	ENSP00000258530:p.Ala397Val		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876006	0.91664	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.26067	2.57;1.76;2.35	5.84	5.84	0.93424	.	0.098954	0.64402	D	0.000002	T	0.41858	0.1177	M	0.65975	2.015	0.80722	D	1	D;P;P	0.54047	0.964;0.939;0.685	P;P;B	0.52267	0.694;0.497;0.358	T	0.05305	-1.0893	10	0.20519	T	0.43	-9.8926	20.2184	0.98308	0.0:0.0:1.0:0.0	.	403;354;397	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	V	397;354;403	ENSP00000258530:A397V;ENSP00000444472:A354V;ENSP00000446917:A403V	ENSP00000258530:A397V	A	-	2	0	APPL2	104113220	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	9.209000	0.95087	2.775000	0.95449	0.632000	0.83419	GCA		0.448	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		A	105589090	G	A	105589090	3	1	575	1	0	0	0	0	1	0	0	0	818	1319	46	2	836	2	APPL2	12	105589090	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	47998209	105589090	28262805	63	31338											
TRAFD1	10906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112572550	112572550	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr12:112572550A>G	ENST00000257604.5	+	3	673	c.56A>G	c.(55-57)gAa>gGa	p.E19G	TRAFD1_ENST00000412615.2_Missense_Mutation_p.E19G	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	19					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)	p.E19G(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						AGCAAAAAAGAAATTCCTGTG	0.408																																																1	Substitution - Missense(1)	kidney(1)											156	149	151					12																	112572550		2203	4300	6503	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.56A>G	12.37:g.112572550A>G	ENSP00000257604:p.Glu19Gly		A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989453	0.74589	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	5.37	5.37	0.77165	.	0.216684	0.44285	D	0.000462	T	0.10465	0.0256	M	0.74881	2.28	0.41952	D	0.990664	P;P	0.44044	0.825;0.825	P;B	0.46585	0.521;0.364	T	0.00847	-1.1542	10	0.62326	D	0.03	-10.0938	14.3769	0.66884	1.0:0.0:0.0:0.0	.	19;19	F8VNX8;O14545	.;TRAD1_HUMAN	G	19	ENSP00000396526:E19G;ENSP00000449319:E19G;ENSP00000257604:E19G;ENSP00000450357:E19G	ENSP00000257604:E19G	E	+	2	0	TRAFD1	111056933	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.236000	0.72339	2.042000	0.60477	0.454000	0.30748	GAA		0.408	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		G	112572550	A	G	112572550	3	3	575	1	0	0	0	0	1	0	0	0	16452	246	9	3	62	3	TRAFD1	12	112572550	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	6983460	112572550	21279345	64	31339											
PAN3	255967	broad.mit.edu;hgsc.bcm.edu	37	13	28750663	28750663	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr13:28750663C>G	ENST00000380958.3	+	3	738	c.586C>G	c.(586-588)Cta>Gta	p.L196V	PAN3_ENST00000399613.1_Missense_Mutation_p.L50V	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.L196V(1)|p.L50V(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CCCAAGCCTTCTAAATGACAG	0.338																																																2	Substitution - Missense(2)	kidney(2)											120	116	117					13																	28750663		2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.586C>G	13.37:g.28750663C>G	ENSP00000370345:p.Leu196Val			Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405394	0.83230	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.64438	-0.1;0.7	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.71804	0.3383	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.998;0.974;0.974	D;D;D	0.77557	0.99;0.969;0.953	T	0.74411	-0.3674	10	0.72032	D	0.01	-9.9635	19.5697	0.95407	0.0:1.0:0.0:0.0	.	196;196;196	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	V	196;50	ENSP00000370345:L196V;ENSP00000382522:L50V	ENSP00000370345:L196V	L	+	1	2	PAN3	27648663	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.615000	0.54167	2.631000	0.89168	0.655000	0.94253	CTA		0.338	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		G	28750663	C	G	28750663	3	3	575	1	0	0	0	0	1	0	0	0	11417	912	32	4	596	4	PAN3	13	28750663	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08		28750663	86419215	65	31340											
DNAJC15	29103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	43652822	43652822	+	Silent	SNP	A	A	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr13:43652822A>T	ENST00000379221.2	+	4	733	c.309A>T	c.(307-309)gtA>gtT	p.V103V	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	103	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.V103V(2)		endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		TTTTAGGTGTAAGGTAGGTGT	0.343																																																2	Substitution - coding silent(2)	kidney(2)											188	162	171					13																	43652822		2203	4300	6503	SO:0001819	synonymous_variant	29103			AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"Heat shock proteins / DNAJ (HSP40)"	20325	protein-coding gene	gene with protein product		615339	"DnaJ (Hsp40) homolog, subfamily D, member 1"	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.309A>T	13.37:g.43652822A>T			B2R4L0|Q5T219|Q6X963	Silent	SNP	ENST00000379221.2	37	CCDS9388.1																																																																																				0.343	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044709.2	NM_013238		T	43652822	A	T	43652822	2	4	575	1	0	0	0	0	0	0	0	1	4636	349	13	5		5	DNAJC15	13	43652822	Silent	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	14902159	43652822	71517056	66	31341											
ITM2B	9445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	48830433	48830438	+	In_Frame_Del	DEL	GAAGAA	GAAGAA	-	rs370484810		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	GAAGAA	GAAGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr13:48830433_48830438delGAAGAA	ENST00000378565.5	+	3	570_575	c.367_372delGAAGAA	c.(367-372)gaagaadel	p.EE125del	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	125	Necessary for interaction with APP and inhibitor effects on APP processing.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TAAAATCTTTGAAGAAGAAGAAGTTG	0.398																																																0																																										SO:0001651	inframe_deletion	9445			AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"BRICHOS domain containing"	6174	protein-coding gene	gene with protein product	"BRICHOS domain containing 2B"	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.367_372delGAAGAA	13.37:g.48830439_48830444delGAAGAA	ENSP00000367828:p.Glu125_Glu126del		Q5W0A3|Q96B24|Q9NYH1	In_Frame_Del	DEL	ENST00000378565.5	37	CCDS9409.1																																																																																				0.398	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999		-	48830438	GAAGAA	-	48830433	7	5	575	1	0	1	0	1	0	0	0	0	7915	1291	45	0	377	0	ITM2B	13	48830433	In_Frame_Del	DEL	GAAGAA	TCGA-CZ-4859-01A-02D-1429-08	5177611	48830433	66339445	67	31342											
FAM155A	728215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	108518168	108518168	+	Silent	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr13:108518168G>T	ENST00000375915.2	-	1	915	c.777C>A	c.(775-777)acC>acA	p.T259T		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	259						integral component of membrane (GO:0016021)		p.T259T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCCTGCAAGTGGTCATCTCGC	0.507																																																1	Substitution - coding silent(1)	kidney(1)											144	126	132					13																	108518168		2203	4300	6503	SO:0001819	synonymous_variant	728215			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.777C>A	13.37:g.108518168G>T			B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	CCDS32006.1																																																																																				0.507	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		T	108518168	G	T	108518168	2	4	575	1	0	0	0	0	0	0	0	1	5467	1335	47	4		4	FAM155A	13	108518168	Silent	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	59687735	108518168	6651710	68	31343											
TMCO3	55002	hgsc.bcm.edu;ucsc.edu	37	13	114156172	114156173	+	Frame_Shift_Ins	INS	-	-	CTTCAGGA			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr13:114156172_114156173insCTTCAGGA	ENST00000434316.2	+	5	1281_1282	c.922_923insCTTCAGGA	c.(922-924)cctfs	p.-310fs	TMCO3_ENST00000375391.1_Frame_Shift_Ins_p.-310fs|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3							integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ACTTCTGGGACCTTCAGGACTA	0.351																																																0																																										SO:0001589	frameshift_variant	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.923_930dupCTTCAGGA	13.37:g.114156173_114156180dupCTTCAGGA	ENSP00000389399:p.Gly310fs		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Frame_Shift_Ins	INS	ENST00000434316.2	37	CCDS9537.1																																																																																				0.351	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		CTTCAGGA	114156173	-	CTTCAGGA	114156172	7	5	575	1	0	1	1	0	0	0	0	0	16002	507	18	0	936	0	TMCO3	13	114156172	Frame_Shift_Ins	INS	-	TCGA-CZ-4859-01A-02D-1429-08	5638004	114156172	1013706	69	31344											
SYNE2	23224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64532268	64532269	+	Missense_Mutation	DNP	CG	CG	TC	rs372338837		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr14:64532268_64532269CG>TC	ENST00000344113.4	+	51	10543_10544	c.10331_10332CG>TC	c.(10330-10332)tCG>tTC	p.S3444F	SYNE2_ENST00000554584.1_Missense_Mutation_p.S3477F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3444F|SYNE2_ENST00000555002.1_Missense_Mutation_p.S78F|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3444					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S3444L(1)|p.S3444>?(1)|p.S3444S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGATTGTGTCGGCTCTGTGGG	0.436																																																3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	Exception_encountered	14.37:g.64532268_64532269delinsTC	ENSP00000341781:p.Ser3444Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation|Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.436	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		TC	64532269	CG	TC	64532268	3	4	575	1	0	0	0	0	1	0	0	0	15451	893	31	1	10529	1	SYNE2	14	64532268	Missense_Mutation	DNP	CG	TCGA-CZ-4859-01A-02D-1429-08		64532268	42817272	70	31345											
PCNX	22990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	71444679	71444679	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr14:71444679T>A	ENST00000304743.2	+	6	2071	c.1625T>A	c.(1624-1626)gTt>gAt	p.V542D	PCNX_ENST00000439984.3_Missense_Mutation_p.V542D|PCNX_ENST00000238570.5_Missense_Mutation_p.V542D	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	542						integral component of membrane (GO:0016021)		p.V542D(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GAAGGGGATGTTCGACCTAAA	0.453																																																1	Substitution - Missense(1)	kidney(1)											108	111	110					14																	71444679		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1625T>A	14.37:g.71444679T>A	ENSP00000304192:p.Val542Asp		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	T	9.975	1.226676	0.22542	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.18657	3.04;2.98;2.2	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	T	0.28234	0.0697	L	0.27053	0.805	0.80722	D	1	D;D;D	0.63880	0.988;0.988;0.993	P;P;P	0.59424	0.723;0.723;0.857	T	0.03493	-1.1031	10	0.14656	T	0.56	.	16.2559	0.82517	0.0:0.0:0.0:1.0	.	542;542;542	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	D	542	ENSP00000304192:V542D;ENSP00000238570:V542D;ENSP00000396617:V542D	ENSP00000238570:V542D	V	+	2	0	PCNX	70514432	1.000000	0.71417	0.749000	0.31150	0.123000	0.20343	4.463000	0.60128	2.239000	0.73571	0.528000	0.53228	GTT		0.453	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		A	71444679	T	A	71444679	3	1	575	1	0	0	0	0	1	0	0	0	11593	1725	60	5	1647	5	PCNX	14	71444679	Missense_Mutation	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	6912411	71444679	35904861	71	31346											
ALDH1A2	8854	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	58257978	58257978	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr15:58257978T>A	ENST00000249750.4	-	8	1613	c.846A>T	c.(844-846)agA>agT	p.R282S	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R244S|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R186S|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R261S|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R253S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	282					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.R282S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CCAGAGTTACTCTCTTCAAAT	0.428																																																1	Substitution - Missense(1)	kidney(1)											124	124	124					15																	58257978		2192	4292	6484	SO:0001583	missense	8854			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.846A>T	15.37:g.58257978T>A	ENSP00000249750:p.Arg282Ser		B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532275	0.85812	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.18502	2.21;2.21;2.21	5.73	4.6	0.57074	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.64676	1.99	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.973;0.955;1.0;1.0	T	0.10567	-1.0624	10	0.87932	D	0	.	11.4382	0.50081	0.0:0.0703:0.0:0.9297	.	253;261;244;282	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	S	282;186;253;244;261	ENSP00000249750:R282S;ENSP00000309623:R244S;ENSP00000438296:R261S	ENSP00000249750:R282S	R	-	3	2	ALDH1A2	56045270	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.861000	0.62969	2.308000	0.77769	0.533000	0.62120	AGA		0.428	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			A	58257978	T	A	58257978	3	1	575	1	0	0	0	0	1	0	0	0	491	1548	54	5	734	5	ALDH1A2	15	58257978	Missense_Mutation	SNP	T	TCGA-CZ-4859-01A-02D-1429-08		58257978	44273414	72	31347											
PIAS1	8554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68457098	68457098	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr15:68457098A>G	ENST00000249636.6	+	8	1112	c.964A>G	c.(964-966)Agt>Ggt	p.S322G	PIAS1_ENST00000545237.1_Missense_Mutation_p.S324G	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	322					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S322G(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GGATCCAGACAGTGAAATAGC	0.333																																																1	Substitution - Missense(1)	kidney(1)											71	72	72					15																	68457098		1813	4075	5888	SO:0001583	missense	8554			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.964A>G	15.37:g.68457098A>G	ENSP00000249636:p.Ser322Gly		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654089	0.88056	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.35973	1.28;1.28	5.34	5.34	0.76211	Zinc finger, MIZ-type (1);	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.78801	2.425	0.80722	D	1	P	0.37663	0.604	B	0.40825	0.341	T	0.53858	-0.8379	10	0.72032	D	0.01	-10.2961	15.6155	0.76764	1.0:0.0:0.0:0.0	.	322	O75925	PIAS1_HUMAN	G	322;324	ENSP00000249636:S322G;ENSP00000438574:S324G	ENSP00000249636:S322G	S	+	1	0	PIAS1	66244152	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.283000	0.95860	2.142000	0.66516	0.477000	0.44152	AGT		0.333	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			G	68457098	A	G	68457098	3	3	575	1	0	0	0	0	1	0	0	0	11877	188	7	3	994	3	PIAS1	15	68457098	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	10199120	68457098	34074294	73	31348											
LMAN1L	79748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75108801	75108801	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr15:75108801G>A	ENST00000309664.5	+	3	503	c.364G>A	c.(364-366)Ggc>Agc	p.G122S	LMAN1L_ENST00000379709.3_Missense_Mutation_p.G122S	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	122	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G122S(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCATGTAGGCTCTGTCCT	0.657																																																1	Substitution - Missense(1)	kidney(1)											67	70	69					15																	75108801		2197	4296	6493	SO:0001583	missense	79748			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.364G>A	15.37:g.75108801G>A	ENSP00000310431:p.Gly122Ser		Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690315	0.48097	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.72167	-0.63;-0.63	5.39	-0.948	0.10379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.394579	0.26013	N	0.026876	T	0.66684	0.2814	M	0.71581	2.175	0.27014	N	0.964625	P;P;P	0.45827	0.839;0.867;0.827	B;B;P	0.46452	0.287;0.411;0.517	T	0.61451	-0.7060	10	0.56958	D	0.05	.	4.4966	0.11840	0.4108:0.0:0.4443:0.145	.	122;50;122	Q9HAT1-3;B4DU67;Q9HAT1	.;.;LMA1L_HUMAN	S	122	ENSP00000310431:G122S;ENSP00000369031:G122S	ENSP00000310431:G122S	G	+	1	0	LMAN1L	72895854	0.094000	0.21725	0.001000	0.08648	0.120000	0.20174	0.271000	0.18626	-0.464000	0.06963	0.484000	0.47621	GGC		0.657	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			A	75108801	G	A	75108801	3	1	575	1	0	0	0	0	1	0	0	0	8839	1000	35	2	374	2	LMAN1L	15	75108801	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	6651703	75108801	27422591	74	31349											
EME2	197342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1825398	1825398	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr16:1825398G>T	ENST00000568449.1	+	5	673	c.652G>T	c.(652-654)Gag>Tag	p.E218*	MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_Nonsense_Mutation_p.E262*	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	218					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)	p.E262*(1)|p.G277V(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CAGCTGGCCGGAGGTGGAAGA	0.657								Direct reversal of damage;Homologous recombination																																								2	Substitution - Missense(1)|Substitution - Nonsense(1)	kidney(2)											77	85	83					16																	1825398		2187	4299	6486	SO:0001587	stop_gained	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.652G>T	16.37:g.1825398G>T	ENSP00000457353:p.Glu218*		Q8TEP2|Q96RY3	Nonsense_Mutation	SNP	ENST00000568449.1	37	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183363	0.57800	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	4.64	0.954	0.19595	.	0.635376	0.14198	N	0.334884	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-5.8683	8.9717	0.35910	0.0936:0.3417:0.5647:0.0	.	.	.	.	X	262;218	.	ENSP00000303779:E262X	E	+	1	0	EME2	1765399	0.087000	0.21565	0.038000	0.18304	0.071000	0.16799	0.329000	0.19698	-0.252000	0.09528	-1.268000	0.01426	GAG		0.657	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		T	1825398	G	T	1825398	4	4	575	1	0	0	0	0	0	1	0	0	5091	1175	41	4	802	4	EME2	16	1825398	Nonsense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08		1825398	88529355	75	31350											
TSC2	7249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2134519	2134519	+	Silent	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr16:2134519C>G	ENST00000219476.3	+	34	4926	c.4296C>G	c.(4294-4296)gcC>gcG	p.A1432A	TSC2_ENST00000439673.2_Silent_p.A1329A|TSC2_ENST00000401874.2_Silent_p.A1365A|TSC2_ENST00000353929.4_Silent_p.A1389A|TSC2_ENST00000350773.4_Silent_p.A1409A|TSC2_ENST00000568454.1_Silent_p.A1376A|TSC2_ENST00000382538.6_Silent_p.A1317A	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1432					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.A1432A(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGGTCGGCCTCGGGCGAAG	0.706			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	2	Substitution - coding silent(2)	kidney(2)											15	16	16					16																	2134519		2167	4283	6450	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4296C>G	16.37:g.2134519C>G			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	CCDS10458.1																																																																																				0.706	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		G	2134519	C	G	2134519	2	3	575	1	0	0	0	0	0	0	0	1	16611	668	24	4		4	TSC2	16	2134519	Silent	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	309121	2134519	88220234	76	31351											
KIAA0174	9798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71961673	71961673	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr16:71961673A>G	ENST00000378799.6	+	10	1414	c.1058A>G	c.(1057-1059)gAt>gGt	p.D353G	IST1_ENST00000535424.1_Missense_Mutation_p.D366G|IST1_ENST00000378798.5_Missense_Mutation_p.D322G|IST1_ENST00000541571.2_Missense_Mutation_p.D353G|PKD1L3_ENST00000534738.1_RNA|IST1_ENST00000544564.1_Missense_Mutation_p.D353G|IST1_ENST00000538850.1_Missense_Mutation_p.D205G|IST1_ENST00000606369.1_Missense_Mutation_p.D205G|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000538565.1_3'UTR|RP11-498D10.6_ENST00000573861.1_RNA|IST1_ENST00000329908.8_Missense_Mutation_p.M352V			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	351	Interaction with VPS4A, VTA1, MITD1 STAMBP and USP8.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.M352V(1)									ATTGACTTTGATGATCTTTCC	0.453																																																1	Substitution - Missense(1)	kidney(1)											173	179	177					16																	71961673		2198	4300	6498	SO:0001583	missense	0			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.1058A>G	16.37:g.71961673A>G	ENSP00000368076:p.Asp353Gly		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	CCDS59272.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	23.3|23.3|23.3	4.396422|4.396422|4.396422	0.83011|0.83011|0.83011	.|.|.	.|.|.	ENSG00000182149|ENSG00000182149|ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000538963;ENST00000538850;ENST00000378798;ENST00000456820|ENST00000329908|ENST00000541848	.|.|.	.|.|.	.|.|.	5.44|5.44|5.44	5.44|5.44|5.44	0.79542|0.79542|0.79542	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.71753|0.71753|.	0.3377|0.3377|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|B|.	0.65815|0.30146|.	0.991;0.995;0.993|0.27|.	P;P;P|B|.	0.62089|0.31337|.	0.793;0.898;0.842|0.128|.	T|T|.	0.71108|0.71108|.	-0.4688|-0.4688|.	8|7|.	0.87932|0.87932|.	D|D|.	0|0|.	-16.9082|-16.9082|-16.9082	15.7919|15.7919|15.7919	0.78372|0.78372|0.78372	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	351;322;366|352|.	P53990;P53990-2;A8KAH5|P53990-3|.	IST1_HUMAN;.;.|.|.	G|V|W	366;353;342;205;322;276|352|207	.|.|.	ENSP00000368075:D322G|ENSP00000330408:M352V|.	D|M|X	+|+|+	2|1|3	0|0|0	KIAA0174|KIAA0174|KIAA0174	70519174|70519174|70519174	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.986000|0.986000|0.986000	0.74619|0.74619|0.74619	8.861000|8.861000|8.861000	0.92277|0.92277|0.92277	2.190000|2.190000|2.190000	0.69967|0.69967|0.69967	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	GAT|ATG|TGA		0.453	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		G	71961673	A	G	71961673	3	3	575	1	0	0	0	0	1	0	0	0	8160	333	12	3	1088	3	KIAA0174	16	71961673	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	69827154	71961673	18393080	77	31352											
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3945851	3945851	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:3945851delA	ENST00000381638.2	-	39	6302	c.6178delT	c.(6178-6180)tcafs	p.S2060fs		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2060							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GACACTTCTGAATCTTCAGCA	0.448																																																0													104	99	101					17																	3945851		2203	4300	6503	SO:0001589	frameshift_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6178delT	17.37:g.3945851delA	ENSP00000371051:p.Ser2060fs		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Frame_Shift_Del	DEL	ENST00000381638.2	37	CCDS11043.1																																																																																				0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		-	3945851	A	-	3945851	7	5	575	1	0	1	0	1	0	0	0	0	18260	246	9	0	2775	0	ZZEF1	17	3945851	Frame_Shift_Del	DEL	A	TCGA-CZ-4859-01A-02D-1429-08		3945851	77249359	78	31353											
VTN	7448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26696549	26696549	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:26696549C>G	ENST00000226218.4	-	3	1126	c.508G>C	c.(508-510)Ggt>Cgt	p.G170R	VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000536498.1_5'UTR|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|CTB-96E2.2_ENST00000555059.2_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	170					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G170R(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	AAGAGGGAACCGTTCTTGAGG	0.622																																																1	Substitution - Missense(1)	kidney(1)											60	58	58					17																	26696549		2203	4300	6503	SO:0001583	missense	7448			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.508G>C	17.37:g.26696549C>G	ENSP00000226218:p.Gly170Arg		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872637	0.91587	.	.	ENSG00000255604	ENST00000226218	T	0.04015	3.73	5.79	5.79	0.91817	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01266	-1.1401	10	0.87932	D	0	-24.1631	20.0212	0.97504	0.0:1.0:0.0:0.0	.	170	P04004	VTNC_HUMAN	R	170	ENSP00000226218:G170R	ENSP00000226218:G170R	G	-	1	0	AC002094.1	23720676	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.486000	0.66856	2.735000	0.93741	0.561000	0.74099	GGT		0.622	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		G	26696549	C	G	26696549	3	3	575	1	0	0	0	0	1	0	0	0	17242	652	23	4	952	4	VTN	17	26696549	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	22750698	26696549	54498661	79	31354											
SEZ6	124925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27287870	27287870	+	Silent	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:27287870C>T	ENST00000317338.12	-	6	1790	c.1362G>A	c.(1360-1362)cgG>cgA	p.R454R	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.R454R|SEZ6_ENST00000442608.3_Silent_p.R454R|SEZ6_ENST00000360295.9_Silent_p.R454R			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	454	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.R454R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCAGGTGTAGCCGCTGGCCCT	0.602																																																1	Substitution - coding silent(1)	kidney(1)											91	106	101					17																	27287870		2128	4244	6372	SO:0001819	synonymous_variant	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1362G>A	17.37:g.27287870C>T			B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	ENST00000317338.12	37	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	8.671	0.902745	0.17760	.	.	ENSG00000063015	ENST00000539265	.	.	.	4.75	2.62	0.31277	.	.	.	.	.	T	0.47637	0.1456	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39396	-0.9616	4	.	.	.	.	4.6199	0.12444	0.0:0.6237:0.1815:0.1947	.	.	.	.	D	41	.	.	G	-	2	0	SEZ6	24311996	0.239000	0.23836	1.000000	0.80357	0.940000	0.58332	-0.192000	0.09587	1.368000	0.46115	0.313000	0.20887	GGC		0.602	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			T	27287870	C	T	27287870	2	4	575	1	0	0	0	0	0	0	0	1	14148	726	26	2		2	SEZ6	17	27287870	Silent	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	591321	27287870	53907340	80	31355											
SUZ12	23512	broad.mit.edu;hgsc.bcm.edu	37	17	30310113	30310113	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:30310113T>A	ENST00000322652.5	+	9	1242	c.1013T>A	c.(1012-1014)cTt>cAt	p.L338H	SUZ12_ENST00000580398.1_Missense_Mutation_p.L315H	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	338					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.L338H(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GAGACTATTCTTGATGGGAAG	0.403			T	JAZF1	endometrial stromal tumours																																		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	1	Substitution - Missense(1)	kidney(1)											141	132	135					17																	30310113		2203	4300	6503	SO:0001583	missense	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1013T>A	17.37:g.30310113T>A	ENSP00000316578:p.Leu338His		Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.162982	0.38217	.	.	ENSG00000178691	ENST00000322652	T	0.47177	0.85	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.68765	0.846;0.96	T	0.59220	-0.7495	10	0.29301	T	0.29	-6.0629	13.8583	0.63542	0.0:0.0:0.0:1.0	.	338;338	A8K1U9;Q15022	.;SUZ12_HUMAN	H	338	ENSP00000316578:L338H	ENSP00000316578:L338H	L	+	2	0	SUZ12	27334226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.037000	0.88933	1.669000	0.50854	0.433000	0.28618	CTT		0.403	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		A	30310113	T	A	30310113	3	1	575	1	0	0	0	0	1	0	0	0	15421	1609	56	5	1047	5	SUZ12	17	30310113	Missense_Mutation	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	3022243	30310113	50885097	81	31356											
C17orf75	64149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30660470	30660470	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:30660470A>G	ENST00000577809.1	-	9	990	c.941T>C	c.(940-942)cTt>cCt	p.L314P	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.L314P	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	314				L -> F (in Ref. 1; AAG23214). {ECO:0000305}.				p.L314P(1)		ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGTCGGAAAAGAAAAGGGTT	0.358																																																1	Substitution - Missense(1)	kidney(1)											137	136	137					17																	30660470		1825	4083	5908	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.941T>C	17.37:g.30660470A>G	ENSP00000464275:p.Leu314Pro		Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470420	0.43942	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.78107	-0.2333	9	0.56958	D	0.05	-24.6114	15.5431	0.76070	1.0:0.0:0.0:0.0	.	314	Q9HAS0	NJMU_HUMAN	P	314	.	ENSP00000225805:L314P	L	-	2	0	C17orf75	27684583	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	8.324000	0.90005	2.084000	0.62774	0.533000	0.62120	CTT		0.358	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		G	30660470	A	G	30660470	3	3	575	1	0	0	0	0	1	0	0	0	1882	72	3	3	257	3	C17orf75	17	30660470	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	350357	30660470	50534740	82	31357											
ERBB2	2064	hgsc.bcm.edu;ucsc.edu	37	17	37871549	37871550	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:37871549_37871550insC	ENST00000269571.5	+	10	1318_1319	c.1159_1160insC	c.(1159-1161)tccfs	p.S387fs	ERBB2_ENST00000584450.1_Frame_Shift_Ins_p.S387fs|ERBB2_ENST00000540147.1_Frame_Shift_Ins_p.S357fs|ERBB2_ENST00000540042.1_Frame_Shift_Ins_p.S357fs|ERBB2_ENST00000541774.1_Frame_Shift_Ins_p.S372fs|ERBB2_ENST00000445658.2_Frame_Shift_Ins_p.S111fs|ERBB2_ENST00000578199.1_Frame_Shift_Ins_p.S357fs|ERBB2_ENST00000584601.1_Frame_Shift_Ins_p.S357fs|ERBB2_ENST00000406381.2_Frame_Shift_Ins_p.S357fs			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	387					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGACCCAGCCTCCAACACTGCC	0.619		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0																																										SO:0001589	frameshift_variant	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1161dupC	17.37:g.37871551_37871551dupC	ENSP00000269571:p.Ser387fs		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Frame_Shift_Ins	INS	ENST00000269571.5	37	CCDS32642.1																																																																																				0.619	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			C	37871550	-	C	37871549	7	5	575	1	0	1	1	0	0	0	0	0	5208	1551	54	0	1197	0	ERBB2	17	37871549	Frame_Shift_Ins	INS	-	TCGA-CZ-4859-01A-02D-1429-08	7211079	37871549	43323661	83	31358											
ORMDL3	94103	broad.mit.edu;ucsc.edu	37	17	38079479	38079479	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:38079479G>T	ENST00000394169.1	-	5	1706	c.212C>A	c.(211-213)cCc>cAc	p.P71H	ORMDL3_ENST00000304046.2_Missense_Mutation_p.P71H|ORMDL3_ENST00000582052.1_5'Flank|ORMDL3_ENST00000584220.1_Missense_Mutation_p.P55H|ORMDL3_ENST00000579695.1_Missense_Mutation_p.P71H			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	71					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)		p.P71H(1)		endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			GGTCTCAAAGGGTGTCCCCTT	0.567																																																1	Substitution - Missense(1)	kidney(1)											165	158	160					17																	38079479		2203	4300	6503	SO:0001583	missense	94103				CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"ORM1 (S. cerevisiae)-like 3", "ORM1-like 3 (S. cerevisiae)"			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.212C>A	17.37:g.38079479G>T	ENSP00000377724:p.Pro71His		B3KS83|Q6UY83	Missense_Mutation	SNP	ENST00000394169.1	37	CCDS11355.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073252	0.94000	.	.	ENSG00000172057	ENST00000304046;ENST00000394169	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90819	0.4707	9	0.87932	D	0	-27.44	19.1554	0.93507	0.0:0.0:1.0:0.0	.	71	Q8N138	ORML3_HUMAN	H	71	.	ENSP00000304858:P71H	P	-	2	0	ORMDL3	35333005	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	9.869000	0.99810	2.528000	0.85240	0.655000	0.94253	CCC		0.567	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280		T	38079479	G	T	38079479	3	4	575	1	0	0	0	0	1	0	0	0	11273	1232	43	4	257	4	ORMDL3	17	38079479	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	207930	38079479	43115731	84	31359											
NBR1	4077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41341626	41341626	+	Missense_Mutation	SNP	G	G	A	rs536512807		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:41341626G>A	ENST00000422280.1	+	8	961	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	NBR1_ENST00000341165.6_Missense_Mutation_p.E168K|NBR1_ENST00000590996.1_Missense_Mutation_p.E168K|NBR1_ENST00000389312.4_Missense_Mutation_p.E168K|NBR1_ENST00000542611.1_Missense_Mutation_p.E147K|NBR1_ENST00000589872.1_Missense_Mutation_p.E168K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	168					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.E168K(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGTGGTTAACGAAACGGTTGA	0.393																																																1	Substitution - Missense(1)	kidney(1)											74	73	73					17																	41341626		1844	4091	5935	SO:0001583	missense	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.502G>A	17.37:g.41341626G>A	ENSP00000411250:p.Glu168Lys		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.615451	0.96649	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.57752	1.06;0.38;1.06;1.02	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73598	0.3607	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.996	T	0.71543	-0.4561	10	0.46703	T	0.11	-15.7257	20.206	0.98277	0.0:0.0:1.0:0.0	.	147;168;168	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	K	168;147;168;168;168	ENSP00000411250:E168K;ENSP00000437545:E147K;ENSP00000343479:E168K;ENSP00000373963:E168K	ENSP00000343479:E168K	E	+	1	0	NBR1	38595152	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.238000	0.89809	2.785000	0.95823	0.655000	0.94253	GAA		0.393	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		A	41341626	G	A	41341626	3	1	575	1	0	0	0	0	1	0	0	0	10202	1059	37	1	528	1	NBR1	17	41341626	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	3262147	41341626	39853584	85	31360											
MAPT	4137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	44061288	44061288	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:44061288A>G	ENST00000571987.1	+	5	1118	c.1118A>G	c.(1117-1119)cAa>cGa	p.Q373R	MAPT_ENST00000576518.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.Q373R|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.Q373R|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.Q373R|MAPT_ENST00000420682.2_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	373					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.Q373R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CGGGTCCCTCAACTCAAAGGT	0.637																																																1	Substitution - Missense(1)	kidney(1)											65	79	75					17																	44061288		2060	4031	6091	SO:0001583	missense	4137			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1118A>G	17.37:g.44061288A>G	ENSP00000458742:p.Gln373Arg		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.394200	0.42410	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.29142	1.58;1.58;1.58	5.51	4.4	0.53042	.	0.000000	0.40385	N	0.001120	T	0.25975	0.0633	L	0.50333	1.59	0.80722	D	1	P;P	0.36048	0.467;0.534	B;B	0.35353	0.201;0.091	T	0.03121	-1.1070	10	0.30854	T	0.27	-10.7307	8.5614	0.33514	0.8284:0.0:0.0:0.1716	.	373;373	P10636-9;P10636	.;TAU_HUMAN	R	373	ENSP00000340820:Q373R;ENSP00000262410:Q373R;ENSP00000410838:Q373R	ENSP00000262410:Q373R	Q	+	2	0	MAPT	41417125	0.999000	0.42202	1.000000	0.80357	0.811000	0.45836	2.818000	0.48041	0.877000	0.35895	0.418000	0.28097	CAA		0.637	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		G	44061288	A	G	44061288	3	3	575	1	0	0	0	0	1	0	0	0	9299	130	5	3	1136	3	MAPT	17	44061288	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	2719662	44061288	37133922	86	31361											
MED13	9969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60129921	60129921	+	Silent	SNP	T	T	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:60129921T>C	ENST00000397786.2	-	3	523	c.447A>G	c.(445-447)aaA>aaG	p.K149K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	149					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.K149K(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTTTTTCATCTTTTTCATAAG	0.323																																																1	Substitution - coding silent(1)	kidney(1)											117	114	115					17																	60129921		1808	4077	5885	SO:0001819	synonymous_variant	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.447A>G	17.37:g.60129921T>C			B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	CCDS42366.1																																																																																				0.323	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		C	60129921	T	C	60129921	2	2	575	1	0	0	0	0	0	0	0	1	9432	1606	56	3		3	MED13	17	60129921	Silent	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	16068633	60129921	21065289	87	31362											
ENPP7	339221	broad.mit.edu	37	17	77707422	77707422	+	Missense_Mutation	SNP	G	G	A	rs145931726		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr17:77707422G>A	ENST00000328313.5	+	2	591	c.370G>A	c.(370-372)Gtg>Atg	p.V124M		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.V124M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAACGGCAGCGTGCCCATCTG	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19656	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	61	44	49		370	-9.6	0	17	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ENPP7	NM_178543.3	21	0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461	benign	124/459	77707422	6,13000	2203	4300	6503	SO:0001583	missense	339221			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.370G>A	17.37:g.77707422G>A	ENSP00000332656:p.Val124Met			Missense_Mutation	SNP	ENST00000328313.5	37	CCDS11763.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.61	2.885963	0.51908	9.08E-4	2.33E-4	ENSG00000182156	ENST00000328313	T	0.74632	-0.86	4.78	-9.56	0.00566	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.415210	0.22119	N	0.064366	T	0.50274	0.1606	N	0.25485	0.75	0.25781	N	0.984728	B	0.31209	0.313	B	0.32805	0.153	T	0.38866	-0.9641	10	0.39692	T	0.17	-11.4596	7.7023	0.28630	0.146:0.5996:0.1089:0.1454	.	124	Q6UWV6	ENPP7_HUMAN	M	124	ENSP00000332656:V124M	ENSP00000332656:V124M	V	+	1	0	ENPP7	75322017	0.000000	0.05858	0.017000	0.16124	0.973000	0.67179	-0.316000	0.08071	-1.934000	0.01051	0.591000	0.81541	GTG		0.622	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		A	77707422	G	A	77707422	3	1	575	1	0	0	0	0	1	0	0	0	5137	1145	40	1	376	1	ENPP7	17	77707422	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	17577501	77707422	3487788	88	31363											
ATP9B	374868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	76870367	76870367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr18:76870367G>A	ENST00000426216.2	+	3	323	c.306G>A	c.(304-306)tgG>tgA	p.W102*	ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000307671.7_Nonsense_Mutation_p.W102*|ATP9B_ENST00000458297.2_Nonsense_Mutation_p.W50*|ATP9B_ENST00000586722.1_Nonsense_Mutation_p.W102*	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	102					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.W102*(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGTGGTTGGCTGATAAATA	0.323																																																1	Substitution - Nonsense(1)	kidney(1)											74	78	77					18																	76870367		2203	4300	6503	SO:0001587	stop_gained	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.306G>A	18.37:g.76870367G>A	ENSP00000398076:p.Trp102*		O60872|Q08AD8|Q08AD9	Nonsense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750855	0.89753	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671;ENST00000458297	.	.	.	5.31	5.31	0.75309	.	0.054162	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	18.9739	0.92728	0.0:0.0:1.0:0.0	.	.	.	.	X	25;102;102;50	.	ENSP00000304500:W102X	W	+	3	0	ATP9B	74971355	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.139000	0.50577	2.489000	0.83994	0.561000	0.74099	TGG		0.323	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		A	76870367	G	A	76870367	4	1	575	1	0	0	0	0	0	1	0	0	1199	1212	42	2	316	2	ATP9B	18	76870367	Nonsense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08		76870367	1206881	89	31364											
ZNF556	80032	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2877284	2877284	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr19:2877284G>A	ENST00000307635.2	+	4	415	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	ZNF556_ENST00000586426.1_Missense_Mutation_p.V109M	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V110M(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATCCAAGGGTGGAGAGACC	0.363																																																1	Substitution - Missense(1)	kidney(1)											66	61	63					19																	2877284		2203	4300	6503	SO:0001583	missense	80032			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.328G>A	19.37:g.2877284G>A	ENSP00000302603:p.Val110Met		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	G	9.989	1.230282	0.22542	.	.	ENSG00000172000	ENST00000307635	T	0.05855	3.38	1.97	-3.54	0.04653	.	.	.	.	.	T	0.04952	0.0133	L	0.43152	1.355	0.09310	N	1	B	0.25486	0.127	B	0.23275	0.045	T	0.38564	-0.9655	9	0.42905	T	0.14	.	4.0326	0.09716	0.4094:0.1872:0.4033:0.0	.	110	Q9HAH1	ZN556_HUMAN	M	110	ENSP00000302603:V110M	ENSP00000302603:V110M	V	+	1	0	ZNF556	2828284	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.826000	0.04429	-0.721000	0.04929	0.407000	0.27541	GTG		0.363	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		A	2877284	G	A	2877284	3	1	575	1	0	0	0	0	1	0	0	0	17992	1261	44	2	342	2	ZNF556	19	2877284	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08		2877284	56251699	90	31365											
RFX1	5989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14083791	14083791	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr19:14083791C>G	ENST00000254325.4	-	9	1312	c.1078G>C	c.(1078-1080)Gtg>Ctg	p.V360L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	360					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.V360L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTGCCGGACACGTACATGGGC	0.726																																																1	Substitution - Missense(1)	kidney(1)											20	20	20					19																	14083791		2180	4279	6459	SO:0001583	missense	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1078G>C	19.37:g.14083791C>G	ENSP00000254325:p.Val360Leu			Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650356	0.67472	.	.	ENSG00000132005	ENST00000254325	T	0.38722	1.12	4.74	4.74	0.60224	RFX1 transcription activation region (1);	0.345250	0.29451	N	0.012115	T	0.38931	0.1059	L	0.41824	1.3	0.49483	D	0.999793	B	0.15930	0.015	B	0.29440	0.102	T	0.17198	-1.0377	10	0.26408	T	0.33	-13.623	16.514	0.84294	0.0:1.0:0.0:0.0	.	360	P22670	RFX1_HUMAN	L	360	ENSP00000254325:V360L	ENSP00000254325:V360L	V	-	1	0	RFX1	13944791	1.000000	0.71417	0.987000	0.45799	0.888000	0.51559	3.147000	0.50639	2.196000	0.70406	0.561000	0.74099	GTG		0.726	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		G	14083791	C	G	14083791	3	3	575	1	0	0	0	0	1	0	0	0	13268	536	19	4	1913	4	RFX1	19	14083791	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	11206507	14083791	45045192	91	31366											
PRODH2	58510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36303397	36303397	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr19:36303397G>T	ENST00000301175.3	-	3	481	c.464C>A	c.(463-465)tCc>tAc	p.S155Y		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	155					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.S155Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCATAGACGGATGCTCGGAG	0.662																																																1	Substitution - Missense(1)	kidney(1)											30	33	32					19																	36303397		2203	4300	6503	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.464C>A	19.37:g.36303397G>T	ENSP00000301175:p.Ser155Tyr			Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252250	0.59212	.	.	ENSG00000250799	ENST00000301175	T	0.77750	-1.12	5.57	5.57	0.84162	.	.	.	.	.	D	0.83681	0.5307	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	D	0.85078	0.0944	9	0.87932	D	0	.	17.0465	0.86505	0.0:0.0:1.0:0.0	.	155	Q9UF12	PROD2_HUMAN	Y	155	ENSP00000301175:S155Y	ENSP00000301175:S155Y	S	-	2	0	PRODH2	40995237	1.000000	0.71417	0.953000	0.39169	0.115000	0.19883	4.782000	0.62396	2.618000	0.88619	0.591000	0.81541	TCC		0.662	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		T	36303397	G	T	36303397	3	4	575	1	0	0	0	0	1	0	0	0	12554	1174	41	4	1182	4	PRODH2	19	36303397	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	22219606	36303397	22825586	92	31367											
SIGLEC1	6614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3673709	3673709	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:3673709C>T	ENST00000344754.4	-	14	3577	c.3578G>A	c.(3577-3579)tGc>tAc	p.C1193Y	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.C1193Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1193	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.C1193Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTCCACAGTGCACAGTACCAG	0.697																																																1	Substitution - Missense(1)	kidney(1)											12	17	15					20																	3673709		2186	4274	6460	SO:0001583	missense	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3578G>A	20.37:g.3673709C>T	ENSP00000341141:p.Cys1193Tyr		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412470	0.62511	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	D;D	0.94537	-3.45;-3.45	4.63	4.63	0.57726	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.43260	D	0.000594	D	0.97807	0.9280	H	0.94771	3.58	0.45118	D	0.998136	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98406	1.0570	10	0.87932	D	0	.	12.8369	0.57777	0.0:1.0:0.0:0.0	.	1193;1193	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	Y	1193	ENSP00000341141:C1193Y;ENSP00000202578:C1193Y	ENSP00000202578:C1193Y	C	-	2	0	SIGLEC1	3621709	0.996000	0.38824	0.997000	0.53966	0.748000	0.42578	4.300000	0.59079	2.405000	0.81733	0.655000	0.94253	TGC		0.697	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		T	3673709	C	T	3673709	3	4	575	1	0	0	0	0	1	0	0	0	14311	710	25	2	1583	2	SIGLEC1	20	3673709	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08		3673709	59351811	93	31368											
MKKS	8195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	10393730	10393730	+	Missense_Mutation	SNP	T	T	C	rs113994195		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:10393730T>C	ENST00000347364.3	-	3	1195	c.433A>G	c.(433-435)Agt>Ggt	p.S145G	MKKS_ENST00000399054.2_Missense_Mutation_p.S145G	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	145					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)	p.S145G(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TGAGTACTACTAAAGTCCACT	0.413																																					Melanoma(79;1979 2212 6640)											1	Substitution - Missense(1)	kidney(1)											92	88	89					20																	10393730		2203	4300	6503	SO:0001583	missense	8195			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"Heat Shock Proteins / Chaperonins"	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.433A>G	20.37:g.10393730T>C	ENSP00000246062:p.Ser145Gly		A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	T	1.835	-0.468982	0.04445	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.79940	-1.32;-1.32	5.63	2.05	0.26809	.	0.249632	0.52532	N	0.000079	T	0.69133	0.3077	L	0.39566	1.225	0.26911	N	0.966883	B	0.19817	0.039	B	0.20955	0.032	T	0.56878	-0.7906	10	0.37606	T	0.19	-24.2285	7.2808	0.26310	0.0:0.129:0.122:0.749	.	145	Q9NPJ1	MKKS_HUMAN	G	145	ENSP00000246062:S145G;ENSP00000382008:S145G	ENSP00000246062:S145G	S	-	1	0	MKKS	10341730	0.818000	0.29161	0.000000	0.03702	0.004000	0.04260	0.717000	0.25851	0.129000	0.18514	-1.505000	0.00955	AGT		0.413	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			C	10393730	T	C	10393730	3	2	575	1	0	0	0	0	1	0	0	0	9602	1522	53	3	1295	3	MKKS	20	10393730	Missense_Mutation	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	6720021	10393730	52631790	94	31369											
SEL1L2	80343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	13830874	13830874	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:13830874T>A	ENST00000284951.5	-	19	1984	c.1910A>T	c.(1909-1911)gAa>gTa	p.E637V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.E524V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	637						integral component of membrane (GO:0016021)		p.E637V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATGCGTAGTTTCCAGTTTCAT	0.458																																																1	Substitution - Missense(1)	kidney(1)											106	102	103					20																	13830874		1968	4159	6127	SO:0001583	missense	80343			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1910A>T	20.37:g.13830874T>A	ENSP00000284951:p.Glu637Val		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	T	17.11	3.304742	0.60305	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.24151	1.87;2.2	5.97	5.97	0.96955	.	0.088745	0.49305	D	0.000157	T	0.25717	0.0626	L	0.57536	1.79	0.43803	D	0.996357	P;P	0.50710	0.801;0.938	B;B	0.44315	0.438;0.446	T	0.06058	-1.0848	10	0.15952	T	0.53	-25.2592	8.8557	0.35227	0.0:0.0825:0.0:0.9175	.	524;637	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	524;637	ENSP00000367312:E524V;ENSP00000284951:E637V	ENSP00000284951:E637V	E	-	2	0	SEL1L2	13778874	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	1.576000	0.36504	2.281000	0.76405	0.533000	0.62120	GAA		0.458	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		A	13830874	T	A	13830874	3	1	575	1	0	0	0	0	1	0	0	0	14017	1783	62	5	164	5	SEL1L2	20	13830874	Missense_Mutation	SNP	T	TCGA-CZ-4859-01A-02D-1429-08	3437144	13830874	49194646	95	31370											
RALY	22913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	32663747	32663747	+	Missense_Mutation	SNP	C	C	G	rs377184627		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:32663747C>G	ENST00000246194.3	+	6	947	c.445C>G	c.(445-447)Cgg>Ggg	p.R149G	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Missense_Mutation_p.R133G	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	149					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R149G(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GAAGCGACCCCGGGTCACAGT	0.627																																																1	Substitution - Missense(1)	kidney(1)											53	45	47					20																	32663747		2203	4300	6503	SO:0001583	missense	22913			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.445C>G	20.37:g.32663747C>G	ENSP00000246194:p.Arg149Gly		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674750	0.88445	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000333552;ENST00000442805	T;T;T;T;T	0.34275	1.37;2.3;2.14;1.43;2.56	5.38	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.76727	2.345	0.47905	D	0.999542	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.65825	-0.6074	10	0.66056	D	0.02	-8.0342	15.094	0.72220	0.1427:0.8573:0.0:0.0	.	133;149	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	G	133;149;149;83;133	ENSP00000364255:R133G;ENSP00000413638:R149G;ENSP00000246194:R149G;ENSP00000327522:R83G;ENSP00000415973:R133G	ENSP00000246194:R149G	R	+	1	2	RALY	32127408	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.195000	0.51013	1.458000	0.47871	0.460000	0.39030	CGG		0.627	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			G	32663747	C	G	32663747	3	3	575	1	0	0	0	0	1	0	0	0	13025	643	23	4	459	4	RALY	20	32663747	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	18832873	32663747	30361773	96	31371											
NCOA6	23054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33329729	33329729	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:33329729A>G	ENST00000374796.2	-	12	6901	c.4331T>C	c.(4330-4332)gTc>gCc	p.V1444A	NCOA6_ENST00000359003.2_Missense_Mutation_p.V1444A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1444					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.V1444A(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGGGCAGGGACTGCTTTTAG	0.453																																																1	Substitution - Missense(1)	kidney(1)											89	78	81					20																	33329729		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4331T>C	20.37:g.33329729A>G	ENSP00000363929:p.Val1444Ala		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.017400	0.35606	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.32272	1.46;1.46	5.31	5.31	0.75309	.	0.347063	0.27214	N	0.020384	T	0.20047	0.0482	N	0.14661	0.345	0.28604	N	0.908982	B	0.06786	0.001	B	0.06405	0.002	T	0.07790	-1.0754	10	0.26408	T	0.33	-0.0539	15.4208	0.75009	1.0:0.0:0.0:0.0	.	1444	Q14686	NCOA6_HUMAN	A	1444	ENSP00000363929:V1444A;ENSP00000351894:V1444A	ENSP00000351894:V1444A	V	-	2	0	NCOA6	32793390	0.764000	0.28473	1.000000	0.80357	0.972000	0.66771	2.251000	0.43187	2.226000	0.72624	0.482000	0.46254	GTC		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		G	33329729	A	G	33329729	3	3	575	1	0	0	0	0	1	0	0	0	10235	275	10	3	1880	3	NCOA6	20	33329729	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	665982	33329729	29695791	97	31372											
CABLES2	81928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	60971621	60971621	+	Silent	SNP	G	G	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr20:60971621G>A	ENST00000279101.5	-	2	398	c.390C>T	c.(388-390)tcC>tcT	p.S130S		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	130					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.S130S(1)		endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GAAACTCCAGGGAGCAGCGCT	0.647																																																1	Substitution - coding silent(1)	kidney(1)											46	47	47					20																	60971621		2203	4299	6502	SO:0001819	synonymous_variant	81928			BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 150"	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.390C>T	20.37:g.60971621G>A			Q5JWL0|Q9BYK0	Silent	SNP	ENST00000279101.5	37	CCDS33503.1																																																																																				0.647	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		A	60971621	G	A	60971621	2	1	575	1	0	0	0	0	0	0	0	1	2532	1219	43	2		2	CABLES2	20	60971621	Silent	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	27641892	60971621	2053899	98	31373											
CHAF1B	8208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37785583	37785583	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr21:37785583C>G	ENST00000314103.5	+	12	1614	c.1463C>G	c.(1462-1464)aCa>aGa	p.T488R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	488					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)	p.T488R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						ACTCTGAACACACTGCAAGCC	0.532																																																1	Substitution - Missense(1)	kidney(1)											41	44	43					21																	37785583		2199	4293	6492	SO:0001583	missense	8208			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1463C>G	21.37:g.37785583C>G	ENSP00000315700:p.Thr488Arg		Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046017	0.93685	.	.	ENSG00000159259	ENST00000314103	T	0.59772	0.24	5.41	5.41	0.78517	.	0.045134	0.85682	D	0.000000	T	0.61337	0.2339	L	0.36672	1.1	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	T	0.53927	-0.8369	10	0.16896	T	0.51	-21.8026	19.1993	0.93704	0.0:1.0:0.0:0.0	.	488	Q13112	CAF1B_HUMAN	R	488	ENSP00000315700:T488R	ENSP00000315700:T488R	T	+	2	0	CHAF1B	36707453	1.000000	0.71417	0.950000	0.38849	0.992000	0.81027	6.773000	0.75006	2.514000	0.84764	0.563000	0.77884	ACA		0.532	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		G	37785583	C	G	37785583	3	3	575	1	0	0	0	0	1	0	0	0	3314	478	17	4	1505	4	CHAF1B	21	37785583	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08		37785583	10344312	99	31374											
AIFM3	150209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21331018	21331018	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr22:21331018G>T	ENST00000399167.2	+	12	1349	c.1109G>T	c.(1108-1110)aGg>aTg	p.R370M	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Missense_Mutation_p.R376M|AIFM3_ENST00000440238.2_Missense_Mutation_p.R370M|AIFM3_ENST00000333607.6_Missense_Mutation_p.R370M|AIFM3_ENST00000399163.2_Missense_Mutation_p.R370M|AIFM3_ENST00000335375.5_Missense_Mutation_p.R358M	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	370					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.R370M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCTTCAGGAGGTTCCTGGGG	0.697																																																1	Substitution - Missense(1)	kidney(1)											37	35	36					22																	21331018		2201	4298	6499	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1109G>T	22.37:g.21331018G>T	ENSP00000382120:p.Arg370Met		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103142	0.37145	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.08	-2.4	0.06583	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.339436	0.32753	N	0.005689	T	0.65811	0.2727	M	0.84326	2.69	0.35222	D	0.776093	D;B;B;B;B	0.55800	0.973;0.257;0.13;0.03;0.037	P;B;B;B;B	0.54270	0.747;0.216;0.098;0.062;0.103	T	0.73563	-0.3943	10	0.62326	D	0.03	.	10.278	0.43521	0.6146:0.0:0.3854:0.0	.	358;358;376;370;370	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	M	370;370;376;358;370;370	ENSP00000382120:R370M;ENSP00000382116:R370M;ENSP00000385800:R376M;ENSP00000335369:R358M;ENSP00000390798:R370M;ENSP00000327671:R370M	ENSP00000327671:R370M	R	+	2	0	AIFM3	19661018	0.988000	0.35896	0.980000	0.43619	0.899000	0.52679	0.316000	0.19469	-0.328000	0.08539	-0.258000	0.10820	AGG		0.697	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		T	21331018	G	T	21331018	3	4	575	1	0	0	0	0	1	0	0	0	428	1000	35	4	1169	4	AIFM3	22	21331018	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08		21331018	29973548	100	31375											
RAB36	9609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	23501360	23501360	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr22:23501360C>G	ENST00000263116.2	+	9	777	c.737C>G	c.(736-738)gCa>gGa	p.A246G	RAB36_ENST00000341989.4_Missense_Mutation_p.A224G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	246					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.A246G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCAGGGGCCGCATGTGAGCAG	0.657																																																1	Substitution - Missense(1)	kidney(1)											31	26	28					22																	23501360		2203	4300	6503	SO:0001583	missense	9609			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.737C>G	22.37:g.23501360C>G	ENSP00000263116:p.Ala246Gly		Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263933	0.23136	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.78003	-1.14;-1.14	5.3	4.27	0.50696	Small GTP-binding protein domain (1);	0.136947	0.49305	D	0.000151	T	0.61274	0.2334	N	0.17872	0.535	0.23943	N	0.996392	P;B	0.39216	0.664;0.007	B;B	0.38500	0.275;0.009	T	0.57969	-0.7719	10	0.59425	D	0.04	-26.6426	6.3247	0.21237	0.1844:0.7235:0.0:0.0921	.	224;246	O95755-2;O95755	.;RAB36_HUMAN	G	246;224	ENSP00000263116:A246G;ENSP00000343494:A224G	ENSP00000263116:A246G	A	+	2	0	RAB36	21831360	0.457000	0.25752	0.318000	0.25279	0.006000	0.05464	1.083000	0.30815	2.653000	0.90120	0.511000	0.50034	GCA		0.657	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		G	23501360	C	G	23501360	3	3	575	1	0	0	0	0	1	0	0	0	12932	710	25	4	771	4	RAB36	22	23501360	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	2170342	23501360	27803206	101	31376											
EP300	2033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	41574358	41574358	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chr22:41574358C>A	ENST00000263253.7	+	31	7862	c.6643C>A	c.(6643-6645)Caa>Aaa	p.Q2215K	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2215	Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Q2215K(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGCAACCCCAAGGAGTTGG	0.552			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	1	Substitution - Missense(1)	kidney(1)											56	56	56					22																	41574358		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6643C>A	22.37:g.41574358C>A	ENSP00000263253:p.Gln2215Lys		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981965	0.34942	.	.	ENSG00000100393	ENST00000263253	D	0.84223	-1.82	5.5	5.5	0.81552	.	0.148708	0.30464	N	0.009576	D	0.83529	0.5274	L	0.50333	1.59	0.36048	D	0.84055	B	0.23316	0.083	B	0.24848	0.056	T	0.82432	-0.0460	10	0.39692	T	0.17	-6.2778	19.3945	0.94601	0.0:1.0:0.0:0.0	.	2215	Q09472	EP300_HUMAN	K	2215	ENSP00000263253:Q2215K	ENSP00000263253:Q2215K	Q	+	1	0	EP300	39904304	0.101000	0.21875	1.000000	0.80357	0.981000	0.71138	1.591000	0.36665	2.581000	0.87130	0.655000	0.94253	CAA		0.552	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		A	41574358	C	A	41574358	3	1	575	1	0	0	0	0	1	0	0	0	5150	595	21	4	6765	4	EP300	22	41574358	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	18072998	41574358	9730208	102	31377											
HEPH	9843	broad.mit.edu	37	X	65474914	65474914	+	Missense_Mutation	SNP	G	G	T	rs146719428		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:65474914G>T	ENST00000343002.2	+	15	3265	c.2601G>T	c.(2599-2601)agG>agT	p.R867S	HEPH_ENST00000441993.2_Missense_Mutation_p.R870S|HEPH_ENST00000519389.1_Missense_Mutation_p.R921S|HEPH_ENST00000419594.1_Missense_Mutation_p.R678S|HEPH_ENST00000374727.3_Missense_Mutation_p.R870S|HEPH_ENST00000336279.5_Missense_Mutation_p.R600S			Q9BQS7	HEPH_HUMAN	hephaestin	867	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.R867S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCCAGAGAGGTCTGGCCCTG	0.502																																																1	Substitution - Missense(1)	kidney(1)											126	107	114					X																	65474914		2203	4300	6503	SO:0001583	missense	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2601G>T	X.37:g.65474914G>T	ENSP00000343939:p.Arg867Ser		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	G	12.76	2.034436	0.35893	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	4.54	-1.24	0.09435	Cupredoxin (2);	0.107276	0.64402	N	0.000011	D	0.94192	0.8136	N	0.21583	0.68	0.28091	N	0.931804	B;P;D;B	0.53745	0.224;0.603;0.962;0.044	B;P;B;B	0.49637	0.126;0.617;0.381;0.034	D	0.89852	0.4010	10	0.36615	T	0.2	.	1.4427	0.02357	0.5448:0.143:0.1714:0.1408	.	921;267;678;867	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	S	921;870;600;870;678;867	ENSP00000430620:R921S;ENSP00000363859:R870S;ENSP00000337418:R600S;ENSP00000411687:R870S;ENSP00000413211:R678S;ENSP00000343939:R867S	ENSP00000337418:R600S	R	+	3	2	HEPH	65391639	0.933000	0.31639	0.998000	0.56505	0.967000	0.64934	0.041000	0.13927	-0.140000	0.11394	-0.366000	0.07423	AGG		0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		T	65474914	G	T	65474914	3	4	575	1	0	0	0	0	1	0	0	0	7056	1252	44	4	2825	4	HEPH	23	65474914	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08		65474914	89795646	103	31378											
BRWD3	254065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	79948521	79948521	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:79948521C>T	ENST00000373275.4	-	28	3397	c.3181G>A	c.(3181-3183)Gcc>Acc	p.A1061T	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1061					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.A1061T(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AACCACCAGGCGTCATCTATT	0.383																																																1	Substitution - Missense(1)	kidney(1)											147	135	139					X																	79948521		2203	4300	6503	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3181G>A	X.37:g.79948521C>T	ENSP00000362372:p.Ala1061Thr		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162481	0.94727	.	.	ENSG00000165288	ENST00000373275	T	0.44083	0.93	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.68595	-0.5367	9	.	.	.	-6.5463	17.3969	0.87448	0.0:1.0:0.0:0.0	.	1061	Q6RI45	BRWD3_HUMAN	T	1061	ENSP00000362372:A1061T	.	A	-	1	0	BRWD3	79835177	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.320000	0.79064	2.292000	0.77174	0.600000	0.82982	GCC		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		T	79948521	C	T	79948521	3	4	575	1	0	0	0	0	1	0	0	0	1528	768	27	1	2283	1	BRWD3	23	79948521	Missense_Mutation	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	14473607	79948521	75322039	104	31379											
TEX13A	56157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	104464107	104464107	+	Missense_Mutation	SNP	A	A	C	rs367979230		TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:104464107A>C	ENST00000413579.1	-	5	880	c.769T>G	c.(769-771)Tac>Gac	p.Y257D	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.S257R|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.S257R			Q9BXU3	TX13A_HUMAN	testis expressed 13A	257							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CAATAGGTGTACTTTTCCTGA	0.567																																																0													56	56	56					X																	104464107		1975	4142	6117	SO:0001583	missense	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.769T>G	X.37:g.104464107A>C	ENSP00000399753:p.Tyr257Asp		B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.40|12.40	1.926205|1.926205	0.34002|0.34002	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.45|3.45	-2.25|-2.25	0.06888|0.06888	.|.	.|1.115670	.|0.07095	.|N	.|0.839406	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.61218|0.61218	1.895|1.895	0.09310|0.09310	N|N	1|1	.|B	.|0.24963	.|0.115	.|B	.|0.21546	.|0.035	T|T	0.40496|0.40496	-0.9560|-0.9560	6|9	0.87932|0.72032	D|D	0|0.01	.|.	3.812|3.812	0.08801|0.08801	0.3401:0.4024:0.2575:0.0|0.3401:0.4024:0.2575:0.0	.|.	.|257	.|Q9BXU3	.|TX13A_HUMAN	R|D	257|257	.|.	ENSP00000361656:S257R|ENSP00000399753:Y257D	S|Y	-|-	3|1	2|0	TEX13A|TEX13A	104350763|104350763	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-0.148000|-0.148000	0.10219|0.10219	-0.573000|-0.573000	0.05998|0.05998	0.417000|0.417000	0.27973|0.27973	AGT|TAC		0.567	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		C	104464107	A	C	104464107	3	2	575	1	0	0	0	0	1	0	0	0	15781	388	14	5	464	5	TEX13A	23	104464107	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	24515586	104464107	50806453	105	31380											
ANKRD58	347454	broad.mit.edu	37	X	118893385	118893385	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:118893385G>T	ENST00000343905.3	+	1	810	c.755G>T	c.(754-756)gGg>gTg	p.G252V		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	252								p.G328V(1)									AGCGGCAGCGGGTGCACCAAC	0.692																																																1	Substitution - Missense(1)	kidney(1)											7	10	9					X																	118893385		2062	4060	6122	SO:0001583	missense	0				CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"Ankyrin repeat domain containing"	32960	protein-coding gene	gene with protein product			"ankyrin repeat domain 58"	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.755G>T	X.37:g.118893385G>T	ENSP00000340975:p.Gly252Val			Missense_Mutation	SNP	ENST00000343905.3	37	CCDS43984.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578450	0.28180	.	.	ENSG00000187808	ENST00000343905	T	0.14144	2.53	3.67	-0.359	0.12571	.	.	.	.	.	T	0.10165	0.0249	L	0.50333	1.59	0.09310	N	1	B	0.25904	0.137	B	0.18263	0.021	T	0.33650	-0.9860	9	0.28530	T	0.3	-0.1428	3.7872	0.08705	0.5836:0.1873:0.2291:0.0	.	252	A6NJG2	ANR58_HUMAN	V	252	ENSP00000340975:G252V	ENSP00000340975:G252V	G	+	2	0	ANKRD58	118777413	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-0.451000	0.06795	-0.257000	0.09459	-0.527000	0.04329	GGG		0.692	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		T	118893385	G	T	118893385	3	4	575	1	0	0	0	0	1	0	0	0	684	1232	43	4	757	4	ANKRD58	23	118893385	Missense_Mutation	SNP	G	TCGA-CZ-4859-01A-02D-1429-08	14429278	118893385	36377175	106	31381											
STAG2	10735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123184076	123184076	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:123184076A>C	ENST00000371160.1	+	11	1224	c.934A>C	c.(934-936)Att>Ctt	p.I312L	STAG2_ENST00000218089.9_Missense_Mutation_p.I312L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.I312L|STAG2_ENST00000354548.5_Missense_Mutation_p.I243L|STAG2_ENST00000371145.3_Missense_Mutation_p.I312L|STAG2_ENST00000371157.3_Missense_Mutation_p.I312L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	312	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.I312L(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CATTGAAGAGATTGGCATTTG	0.368																																																2	Substitution - Missense(2)	kidney(2)											277	231	247					X																	123184076		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.934A>C	X.37:g.123184076A>C	ENSP00000360202:p.Ile312Leu		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.931440	0.92389	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.54	5.54	0.83059	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	N	0.12611	0.24	0.80722	D	1	B;B	0.22851	0.073;0.076	B;B	0.26864	0.074;0.034	T	0.06552	-1.0820	10	0.02654	T	1	-8.195	14.8301	0.70142	1.0:0.0:0.0:0.0	.	312;312	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	L	312;312;243;312;312;312;312	ENSP00000218089:I312L;ENSP00000397265:I312L;ENSP00000346555:I243L;ENSP00000360202:I312L;ENSP00000360199:I312L;ENSP00000360187:I312L;ENSP00000360186:I312L	ENSP00000218089:I312L	I	+	1	0	STAG2	123011757	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.245000	0.95431	1.952000	0.56665	0.486000	0.48141	ATT		0.368	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		C	123184076	A	C	123184076	3	2	575	1	0	0	0	0	1	0	0	0	15248	333	12	5	968	5	STAG2	23	123184076	Missense_Mutation	SNP	A	TCGA-CZ-4859-01A-02D-1429-08	4290691	123184076	32086484	107	31382											
CSAG1	158511	broad.mit.edu;hgsc.bcm.edu	37	X	151909172	151909172	+	Silent	SNP	C	C	A			TCGA-CZ-4859-01A-02D-1429-08	TCGA-CZ-4859-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	82c0b6e4-cb0f-4870-81c9-b45a93d6f5d3	3257f80f-9009-4ab9-a9b8-b93ad97bc18e	g.chrX:151909172C>A	ENST00000370287.3	+	5	529	c.201C>A	c.(199-201)ccC>ccA	p.P67P	CSAG1_ENST00000452779.2_Silent_p.P67P|CSAG1_ENST00000370291.2_3'UTR	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	67								p.P67P(1)		central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGGACCCGTCAAGGAAG	0.532																																																1	Substitution - coding silent(1)	kidney(1)											107	108	108					X																	151909172		2203	4300	6503	SO:0001819	synonymous_variant	158511			AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"cancer/testis antigen family 24, member 1"					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.201C>A	X.37:g.151909172C>A			A6NE22	Silent	SNP	ENST00000370287.3	37	CCDS14711.1																																																																																				0.532	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058760.2	NM_153479		A	151909172	C	A	151909172	2	1	575	1	0	0	0	0	0	0	0	1	3928	639	23	4		4	CSAG1	23	151909172	Silent	SNP	C	TCGA-CZ-4859-01A-02D-1429-08	28725096	151909172	3361388	108	31383											
PLCH2	9651	hgsc.bcm.edu	37	1	2431088	2431088	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:2431088C>A	ENST00000419816.2	+	20	2864	c.2590C>A	c.(2590-2592)Cac>Aac	p.H864N	PLCH2_ENST00000288766.5_Missense_Mutation_p.H152N|PLCH2_ENST00000378486.3_Missense_Mutation_p.H864N|PLCH2_ENST00000449969.1_Missense_Mutation_p.H837N|PLCH2_ENST00000378488.3_Missense_Mutation_p.H828N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	864					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGGCTACAGACACGTGTACCT	0.592																																																0													53	61	59					1																	2431088		2158	4265	6423	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.2590C>A	1.37:g.2431088C>A	ENSP00000389803:p.His864Asn		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.689338|3.689338	0.68271|0.68271	.|.	.|.	ENSG00000149527|ENSG00000149527	ENST00000419816|ENST00000449969;ENST00000378486;ENST00000378488;ENST00000288766;ENST00000378483;ENST00000343889;ENST00000278878	.|T;T;T;T	.|0.14516	.|2.5;2.5;2.5;2.5	5.13|5.13	5.13|5.13	0.70059|0.70059	.|C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.|0.055211	.|0.64402	.|D	.|0.000001	T|T	0.37785|0.37785	0.1016|0.1016	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.996;0.999	T|T	0.15150|0.15150	-1.0447|-1.0447	5|10	.|0.87932	.|D	.|0	.|.	17.5471|17.5471	0.87865|0.87865	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|711;616;837;864	.|B9DI81;B9DI82;O75038-2;O75038	.|.;.;.;PLCH2_HUMAN	E|N	158|837;864;828;152;150;711;616	.|ENSP00000397289:H837N;ENSP00000367747:H864N;ENSP00000367749:H828N;ENSP00000288766:H152N	.|ENSP00000278878:H616N	D|H	+|+	3|1	2|0	PLCH2|PLCH2	2420948|2420948	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.363000|0.363000	0.29612|0.29612	5.867000|5.867000	0.69597|0.69597	2.392000|2.392000	0.81423|0.81423	0.491000|0.491000	0.48974|0.48974	GAC|CAC		0.592	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		A	2431088	C	A	2431088	3	1	576	1	0	0	0	0	1	0	0	0	12040	478	17	4	2668	4	PLCH2	1	2431088	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10		2431088	246819533	1	31384											
PRDM2	7799	hgsc.bcm.edu;ucsc.edu	37	1	14106783	14106783	+	Silent	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:14106783A>G	ENST00000235372.7	+	8	3349	c.2493A>G	c.(2491-2493)aaA>aaG	p.K831K	PRDM2_ENST00000343137.4_Silent_p.K630K|PRDM2_ENST00000413440.1_Silent_p.K630K|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Silent_p.K831K|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	831					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCGGTGTCAAACAGAAGGCTG	0.448																																																0													77	73	75					1																	14106783		2203	4300	6503	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2493A>G	1.37:g.14106783A>G			B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																				0.448	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		G	14106783	A	G	14106783	2	3	576	1	0	0	0	0	0	0	0	1	12463	40	2	3		3	PRDM2	1	14106783	Silent	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	11675695	14106783	235143838	2	31385											
ARID1A	8289	hgsc.bcm.edu;ucsc.edu	37	1	27099430	27099430	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:27099430C>T	ENST00000324856.7	+	14	4038	c.3667C>T	c.(3667-3669)Cgc>Tgc	p.R1223C	ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1223C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R840C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1223					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.M1220fs*9(1)|p.M1220fs*2(1)|p.R1223C(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGATGGGGCGCATGTCCTA	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	3	Deletion - Frameshift(2)|Substitution - Missense(1)	ovary(2)|large_intestine(1)											99	103	102					1																	27099430		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3667C>T	1.37:g.27099430C>T	ENSP00000320485:p.Arg1223Cys		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.76|15.76	2.927453|2.927453	0.52759|0.52759	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|T;T;T	.|0.03553	.|4.04;3.89;3.89	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.16128|0.16128	0.0388|0.0388	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.993;0.997;0.993	T|T	0.00007|0.00007	-1.2495|-1.2495	5|10	.|0.87932	.|D	.|0	-8.6821|-8.6821	14.1221|14.1221	0.65195|0.65195	0.1499:0.8501:0.0:0.0|0.1499:0.8501:0.0:0.0	.|.	.|840;1223;1223;876	.|O14497-3;O14497;O14497-2;Q4LE49	.|.;ARI1A_HUMAN;.;.	V|C	119|1223;1223;840	.|ENSP00000320485:R1223C;ENSP00000387636:R1223C;ENSP00000363267:R840C	.|ENSP00000320485:R1223C	A|R	+|+	2|1	0|0	ARID1A|ARID1A	26972017|26972017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.464000|5.464000	0.66719|0.66719	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		T	27099430	C	T	27099430	3	4	576	1	0	0	0	0	1	0	0	0	913	768	27	1	3721	1	ARID1A	1	27099430	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	12992647	27099430	222151191	3	31386											
RNF19B	127544	hgsc.bcm.edu;ucsc.edu	37	1	33413940	33413940	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:33413940C>T	ENST00000373456.7	-	3	868	c.869G>A	c.(868-870)tGc>tAc	p.C290Y	RNF19B_ENST00000356990.5_Missense_Mutation_p.C289Y|RNF19B_ENST00000235150.4_Missense_Mutation_p.C289Y	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	290					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTATGCACTGCATCGTGGGCA	0.418																																																0													183	141	155					1																	33413940		2203	4300	6503	SO:0001583	missense	127544			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.869G>A	1.37:g.33413940C>T	ENSP00000362555:p.Cys290Tyr		B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512279	0.85389	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	D;D;D	0.99458	-5.93;-5.93;-5.93	5.71	5.71	0.89125	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97421	1.0009	10	0.87932	D	0	.	20.2344	0.98354	0.0:1.0:0.0:0.0	.	289;290;289	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	Y	290;289;289;188	ENSP00000362555:C290Y;ENSP00000349482:C289Y;ENSP00000235150:C289Y	ENSP00000235150:C289Y	C	-	2	0	RNF19B	33186527	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.813000	0.86123	2.854000	0.98071	0.655000	0.94253	TGC		0.418	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		T	33413940	C	T	33413940	3	4	576	1	0	0	0	0	1	0	0	0	13477	710	25	2	1383	2	RNF19B	1	33413940	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	6314510	33413940	215836681	4	31387											
SNIP1	79753	hgsc.bcm.edu;ucsc.edu	37	1	38006224	38006225	+	Frame_Shift_Ins	INS	-	-	A	rs372938268		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:38006224_38006225insA	ENST00000296215.6	-	3	531_532	c.459_460insT	c.(457-462)tctaacfs	p.N154fs	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	154	Arg-rich.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGCCTCTCGTTAGACGTTCTCC	0.584																																																0																																										SO:0001589	frameshift_variant	79753				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.460dupT	1.37:g.38006225_38006225dupA	ENSP00000296215:p.Asn154fs		Q96SP9|Q9H9T7	Frame_Shift_Ins	INS	ENST00000296215.6	37	CCDS419.1																																																																																				0.584	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		A	38006225	-	A	38006224	7	5	576	1	0	1	1	0	0	0	0	0	14854	1754	61	0	738	0	SNIP1	1	38006224	Frame_Shift_Ins	INS	-	TCGA-CZ-4861-01A-01D-1373-10	4592284	38006224	211244397	5	31388											
PDE4DIP	9659	hgsc.bcm.edu	37	1	144856852	144856852	+	Silent	SNP	C	C	T	rs377520030		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:144856852C>T	ENST00000369354.3	-	40	6822	c.6633G>A	c.(6631-6633)gcG>gcA	p.A2211A	PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.A2211A|PDE4DIP_ENST00000313382.9_Silent_p.A2105A|PDE4DIP_ENST00000369359.4_Silent_p.A2347A|PDE4DIP_ENST00000530740.1_Silent_p.A2296A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2211					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.A2211A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGCTGCACGCTGATCTCA	0.502			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)											39	31	34					1																	144856852		2199	4286	6485	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6633G>A	1.37:g.144856852C>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	5.637	0.302253	0.10678	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.52	-1.01	0.10169	.	.	.	.	.	T	0.12263	0.0298	.	.	.	0.32646	N	0.519982	.	.	.	.	.	.	T	0.19745	-1.0296	4	.	.	.	.	1.5392	0.02551	0.1278:0.2204:0.3685:0.2833	.	.	.	.	H	288	.	.	R	-	2	0	PDE4DIP	143568209	0.000000	0.05858	0.052000	0.19188	0.068000	0.16541	-1.120000	0.03273	0.239000	0.21243	-0.693000	0.03709	CGT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		T	144856852	C	T	144856852	2	4	576	1	0	0	0	0	0	0	0	1	11645	523	19	1		1	PDE4DIP	1	144856852	Silent	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	106850628	144856852	104393769	6	31389											
POGK	57645	hgsc.bcm.edu	37	1	166818327	166818327	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:166818327T>A	ENST00000367875.1	+	5	871	c.511T>A	c.(511-513)Tac>Aac	p.Y171N	POGK_ENST00000537173.1_Missense_Mutation_p.Y53N|POGK_ENST00000367876.4_Missense_Mutation_p.Y171N|POGK_ENST00000536514.1_Missense_Mutation_p.Y86N			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	171					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y171N(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GTACCCCTTCTACATGGCCAT	0.587																																					GBM(76;192 1530 30153 48742)											1	Substitution - Missense(1)	large_intestine(1)											97	86	90					1																	166818327		2203	4300	6503	SO:0001583	missense	57645			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.511T>A	1.37:g.166818327T>A	ENSP00000356849:p.Tyr171Asn		Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210615	0.39102	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.37058	1.28;1.22;4.38;4.59;4.59	5.39	4.23	0.50019	.	0.165905	0.28964	N	0.013573	T	0.12008	0.0292	N	0.24115	0.695	0.34210	D	0.674214	B;B;B	0.23650	0.018;0.089;0.089	B;B;B	0.26517	0.059;0.044;0.07	T	0.06110	-1.0845	9	0.87932	D	0	-7.7248	9.1341	0.36863	0.0:0.0:0.184:0.816	.	53;86;171	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	N	53;86;171;171;171	ENSP00000442763:Y53N;ENSP00000441187:Y86N;ENSP00000404402:Y171N;ENSP00000356850:Y171N;ENSP00000356849:Y171N	ENSP00000356849:Y171N	Y	+	1	0	POGK	165084951	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.334000	0.52097	1.014000	0.39417	0.533000	0.62120	TAC		0.587	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		A	166818327	T	A	166818327	3	1	576	1	0	0	0	0	1	0	0	0	12187	1522	53	5	525	5	POGK	1	166818327	Missense_Mutation	SNP	T	TCGA-CZ-4861-01A-01D-1373-10	21961475	166818327	82432294	7	31390											
CHIT1	1118	hgsc.bcm.edu	37	1	203186979	203186979	+	Missense_Mutation	SNP	C	C	G	rs140228721	byFrequency	TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:203186979C>G	ENST00000367229.1	-	10	1078	c.1044G>C	c.(1042-1044)aaG>aaC	p.K348N	CHIT1_ENST00000535569.1_Missense_Mutation_p.K339N|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.K329N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	348					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCCCTTCTGCTTCAGATAGC	0.642																																																0													42	34	36					1																	203186979		2203	4300	6503	SO:0001583	missense	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1044G>C	1.37:g.203186979C>G	ENSP00000356198:p.Lys348Asn		B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416720	0.42918	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.08458	3.09;3.09;3.09	4.62	1.66	0.24008	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.480369	0.17438	N	0.174238	T	0.24624	0.0597	M	0.77712	2.385	0.48452	D	0.999658	D;D	0.89917	0.993;1.0	P;D	0.80764	0.631;0.994	T	0.00501	-1.1702	10	0.54805	T	0.06	-11.2974	7.92	0.29839	0.0:0.7127:0.0:0.2873	.	339;348	G5EA51;Q13231	.;CHIT1_HUMAN	N	348;329;339	ENSP00000356198:K348N;ENSP00000255427:K329N;ENSP00000438078:K339N	ENSP00000255427:K329N	K	-	3	2	CHIT1	201453602	1.000000	0.71417	0.962000	0.40283	0.371000	0.29859	0.995000	0.29706	0.130000	0.18549	0.563000	0.77884	AAG		0.642	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		G	203186979	C	G	203186979	3	3	576	1	0	0	0	0	1	0	0	0	3348	796	28	4	364	4	CHIT1	1	203186979	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	36368652	203186979	46063642	8	31391											
PIK3C2B	5287	hgsc.bcm.edu	37	1	204419062	204419062	+	Missense_Mutation	SNP	G	G	T	rs142362916	byFrequency	TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:204419062G>T	ENST00000367187.3	-	14	2706	c.2150C>A	c.(2149-2151)cCg>cAg	p.P717Q	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.P717Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	717	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.P717L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGAGCTCCCCGGTGGGGGGAT	0.622																																																1	Substitution - Missense(1)	stomach(1)											25	28	27					1																	204419062		2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2150C>A	1.37:g.204419062G>T	ENSP00000356155:p.Pro717Gln		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891634	0.72524	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.75589	-0.95;-0.95	4.88	4.88	0.63580	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.193501	0.44285	D	0.000474	T	0.79076	0.4385	L	0.44542	1.39	0.26649	N	0.972133	D;D	0.76494	0.976;0.999	P;D	0.72338	0.799;0.977	T	0.69228	-0.5200	10	0.19147	T	0.46	.	13.3924	0.60830	0.0:0.1582:0.8418:0.0	.	717;717	F5GWN5;O00750	.;P3C2B_HUMAN	Q	717	ENSP00000356155:P717Q;ENSP00000400561:P717Q	ENSP00000356155:P717Q	P	-	2	0	PIK3C2B	202685685	1.000000	0.71417	0.057000	0.19452	0.919000	0.55068	5.373000	0.66162	2.272000	0.75746	0.305000	0.20034	CCG		0.622	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		T	204419062	G	T	204419062	3	4	576	1	0	0	0	0	1	0	0	0	11912	1116	39	4	2838	4	PIK3C2B	1	204419062	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	1232083	204419062	44831559	9	31392											
USH2A	7399	hgsc.bcm.edu;ucsc.edu	37	1	216465660	216465660	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:216465660T>G	ENST00000307340.3	-	10	2083	c.1697A>C	c.(1696-1698)cAa>cCa	p.Q566P	USH2A_ENST00000366943.2_Missense_Mutation_p.Q566P|USH2A_ENST00000366942.3_Missense_Mutation_p.Q566P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	566	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCGTAAACTTGATCACCTTG	0.383										HNSCC(13;0.011)																																						0													103	96	99					1																	216465660		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1697A>C	1.37:g.216465660T>G	ENSP00000305941:p.Gln566Pro		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754699	0.69648	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.62639	0.01;0.01;0.01	4.81	4.81	0.61882	EGF-like, laminin (2);	0.559054	0.14758	U	0.300180	T	0.59335	0.2186	L	0.46947	1.48	0.50813	D	0.999894	B;P	0.35821	0.045;0.523	B;B	0.39562	0.052;0.303	T	0.55958	-0.8058	10	0.30854	T	0.27	.	14.3867	0.66949	0.0:0.0:0.0:1.0	.	566;566	O75445-2;O75445	.;USH2A_HUMAN	P	566	ENSP00000305941:Q566P;ENSP00000355910:Q566P;ENSP00000355909:Q566P	ENSP00000305941:Q566P	Q	-	2	0	USH2A	214532283	1.000000	0.71417	0.355000	0.25773	0.989000	0.77384	2.749000	0.47492	1.810000	0.52873	0.383000	0.25322	CAA		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		G	216465660	T	G	216465660	3	3	576	1	0	0	0	0	1	0	0	0	17041	1812	63	5	14177	5	USH2A	1	216465660	Missense_Mutation	SNP	T	TCGA-CZ-4861-01A-01D-1373-10	12046598	216465660	32784961	10	31393											
RYR2	6262	hgsc.bcm.edu;ucsc.edu	37	1	237664037	237664037	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:237664037C>G	ENST00000366574.2	+	21	2547	c.2230C>G	c.(2230-2232)Cca>Gca	p.P744A	RYR2_ENST00000360064.6_Missense_Mutation_p.P742A|RYR2_ENST00000542537.1_Missense_Mutation_p.P728A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	744	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTAAGCTCACCAAACCAACA	0.413																																																0													307	290	295					1																	237664037		1906	4135	6041	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2230C>G	1.37:g.237664037C>G	ENSP00000355533:p.Pro744Ala		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498590	0.44455	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69561	-0.41;-0.41;-0.41	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000011	T	0.65354	0.2683	N	0.17082	0.46	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	T	0.57883	-0.7734	10	0.02654	T	1	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	744	Q92736	RYR2_HUMAN	A	744;742;728	ENSP00000355533:P744A;ENSP00000353174:P742A;ENSP00000443798:P728A	ENSP00000353174:P742A	P	+	1	0	RYR2	235730660	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.705000	0.61838	2.679000	0.91253	0.650000	0.86243	CCA		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237664037	C	G	237664037	3	3	576	1	0	0	0	0	1	0	0	0	13775	507	18	4	2312	4	RYR2	1	237664037	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	21198377	237664037	11586584	11	31394											
CNGA3	1261	hgsc.bcm.edu	37	2	98994250	98994250	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr2:98994250C>A	ENST00000272602.2	+	2	241	c.202C>A	c.(202-204)Cag>Aag	p.Q68K	CNGA3_ENST00000409937.1_Missense_Mutation_p.Q17K|CNGA3_ENST00000393504.1_Missense_Mutation_p.Q68K|CNGA3_ENST00000436404.2_Missense_Mutation_p.Q68K			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	68					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTTCACCGGCCAGGGGATCGC	0.597																																																0													25	23	24					2																	98994250		2203	4300	6503	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.202C>A	2.37:g.98994250C>A	ENSP00000272602:p.Gln68Lys		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974399	0.34848	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	T;T;T;D	0.98762	0.89;0.89;0.89;-5.12	5.01	4.14	0.48551	.	10.923100	0.00357	N	0.000029	D	0.96883	0.8982	L	0.60455	1.87	0.09310	N	1	B;B;B	0.22480	0.07;0.013;0.008	B;B;B	0.13407	0.009;0.006;0.006	D	0.88063	0.2795	10	0.06891	T	0.86	.	6.5331	0.22338	0.178:0.7311:0.0:0.0909	.	17;68;68	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	K	68;68;68;17	ENSP00000377140:Q68K;ENSP00000410070:Q68K;ENSP00000272602:Q68K;ENSP00000386761:Q17K	ENSP00000272602:Q68K	Q	+	1	0	CNGA3	98360682	0.780000	0.28664	0.063000	0.19743	0.013000	0.08279	1.748000	0.38308	1.471000	0.48121	0.655000	0.94253	CAG		0.597	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		A	98994250	C	A	98994250	3	1	576	1	0	0	0	0	1	0	0	0	3600	595	21	4	208	4	CNGA3	2	98994250	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10		98994250	144205123	12	31395											
EPC2	26122	hgsc.bcm.edu;ucsc.edu	37	2	149528431	149528431	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr2:149528431G>T	ENST00000258484.6	+	9	1335	c.1301G>T	c.(1300-1302)aGg>aTg	p.R434M		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	434					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTGAGGTATAGGCATTGCCTT	0.393																																																0													132	129	130					2																	149528431		1877	4129	6006	SO:0001583	missense	26122			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1301G>T	2.37:g.149528431G>T	ENSP00000258484:p.Arg434Met		B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.151090	0.78001	.	.	ENSG00000135999	ENST00000258484	T	0.31769	1.48	5.76	4.88	0.63580	.	0.092812	0.64402	D	0.000001	T	0.53384	0.1793	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.57980	-0.7717	10	0.87932	D	0	-0.7848	14.2328	0.65906	0.0726:0.0:0.9274:0.0	.	434	Q52LR7	EPC2_HUMAN	M	434	ENSP00000258484:R434M	ENSP00000258484:R434M	R	+	2	0	EPC2	149244901	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.911000	0.75746	1.546000	0.49388	0.650000	0.86243	AGG		0.393	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		T	149528431	G	T	149528431	3	4	576	1	0	0	0	0	1	0	0	0	5163	1000	35	4	1335	4	EPC2	2	149528431	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	50534181	149528431	93670942	13	31396											
GALNT5	11227	hgsc.bcm.edu;ucsc.edu	37	2	158114714	158114714	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr2:158114714C>G	ENST00000259056.4	+	1	605	c.120C>G	c.(118-120)atC>atG	p.I40M		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	40					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCAGTGAGATCAACACTCGGG	0.468																																																0													123	126	125					2																	158114714		2203	4300	6503	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.120C>G	2.37:g.158114714C>G	ENSP00000259056:p.Ile40Met		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.418905	0.62622	.	.	ENSG00000136542	ENST00000259056	T	0.63417	-0.04	5.36	4.25	0.50352	.	0.278603	0.26203	N	0.025726	T	0.63414	0.2509	L	0.34521	1.04	0.28733	N	0.902395	D	0.60575	0.988	P	0.56398	0.797	T	0.60910	-0.7169	10	0.87932	D	0	.	12.5162	0.56034	0.0:0.8833:0.0:0.1167	.	40	Q7Z7M9	GALT5_HUMAN	M	40	ENSP00000259056:I40M	ENSP00000259056:I40M	I	+	3	3	GALNT5	157822960	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.651000	0.24873	2.671000	0.90904	0.655000	0.94253	ATC		0.468	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		G	158114714	C	G	158114714	3	3	576	1	0	0	0	0	1	0	0	0	6218	816	29	4	122	4	GALNT5	2	158114714	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	8586283	158114714	85084659	14	31397											
ADAM23	8745	hgsc.bcm.edu;ucsc.edu	37	2	207457434	207457434	+	Silent	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr2:207457434C>T	ENST00000264377.3	+	22	2380	c.2052C>T	c.(2050-2052)taC>taT	p.Y684Y	ADAM23_ENST00000374415.3_Silent_p.Y684Y|ADAM23_ENST00000374416.1_Silent_p.Y684Y	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	684					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTTCCTTCTACCATCAAGGCC	0.373																																					Melanoma(194;1127 2130 19620 24042 27855)											0													157	132	140					2																	207457434		2203	4300	6503	SO:0001819	synonymous_variant	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2052C>T	2.37:g.207457434C>T			A2RU59	Silent	SNP	ENST00000264377.3	37	CCDS2369.1																																																																																				0.373	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		T	207457434	C	T	207457434	2	4	576	1	0	0	0	0	0	0	0	1	245	518	18	2		2	ADAM23	2	207457434	Silent	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	49342720	207457434	35741939	15	31398											
CRELD1	78987	hgsc.bcm.edu	37	3	9984520	9984520	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:9984520G>T	ENST00000383811.3	+	7	1356	c.757G>T	c.(757-759)Gga>Tga	p.G253*	CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000326434.5_Nonsense_Mutation_p.G253*|CRELD1_ENST00000452070.1_Nonsense_Mutation_p.G253*|CRELD1_ENST00000397170.3_Nonsense_Mutation_p.G253*	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	253					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TGGCACAGAGGGAGCCAACTG	0.542																																																0													109	95	100					3																	9984520		2203	4300	6503	SO:0001587	stop_gained	78987			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.757G>T	3.37:g.9984520G>T	ENSP00000373322:p.Gly253*		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Nonsense_Mutation	SNP	ENST00000383811.3	37	CCDS2593.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.25|15.25	2.779114|2.779114	0.49891|0.49891	.|.	.|.	ENSG00000163703|ENSG00000163703	ENST00000435417|ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	.|.	.|.	.|.	4.74|4.74	1.33|1.33	0.21861|0.21861	.|.	0.672928|0.672928	0.13376|0.13376	N|N	0.392493|0.392493	T|.	0.41766|.	0.1173|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50030|.	-0.8875|.	4|.	.|.	.|.	.|.	.|.	8.0373|8.0373	0.30499|0.30499	0.3876:0.4839:0.1285:0.0|0.3876:0.4839:0.1285:0.0	.|.	.|.	.|.	.|.	V|X	15|253	.|.	.|.	G|G	+|+	2|1	0|0	CRELD1|CRELD1	9959520|9959520	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.457000|0.457000	0.32468|0.32468	0.351000|0.351000	0.20096|0.20096	0.395000|0.395000	0.25257|0.25257	-1.310000|-1.310000	0.01310|0.01310	GGG|GGA		0.542	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		T	9984520	G	T	9984520	4	4	576	1	0	0	0	0	0	1	0	0	3868	1233	43	4	783	4	CRELD1	3	9984520	Nonsense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10		9984520	188037910	16	31399											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191479	10191479	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:10191479C>G	ENST00000256474.2	+	3	1312	c.472C>G	c.(472-474)Ctg>Gtg	p.L158V	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.L117V	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158V(12)|p.V155fs*15(2)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158fs*1(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGTGTATACTCTGAAAGAGCG	0.498		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(12)|Deletion - Frameshift(7)|Deletion - In frame(3)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(23)|soft_tissue(1)	GRCh37	CM941380	VHL	M							89	81	84					3																	10191479		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.472C>G	3.37:g.10191479C>G	ENSP00000256474:p.Leu158Val		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090345	0.55968	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99830	-7.01;-7.01	4.86	3.07	0.35406	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000003	D	0.99680	0.9880	M	0.75777	2.31	0.39234	D	0.963723	D;D	0.76494	0.999;0.99	D;D	0.80764	0.994;0.992	D	0.98323	1.0529	10	0.87932	D	0	-5.6982	9.2424	0.37504	0.0:0.8287:0.0:0.1713	.	117;158	P40337-2;P40337	.;VHL_HUMAN	V	158;117;76	ENSP00000256474:L158V;ENSP00000344757:L117V	ENSP00000256474:L158V	L	+	1	2	VHL	10166479	0.995000	0.38212	0.989000	0.46669	0.613000	0.37349	1.729000	0.38115	0.765000	0.33221	0.655000	0.94253	CTG		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		G	10191479	C	G	10191479	3	3	576	1	0	0	0	0	1	0	0	0	17167	912	32	4	482	4	VHL	3	10191479	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	206959	10191479	187830951	17	31400											
XPC	7508	hgsc.bcm.edu;ucsc.edu	37	3	14188813	14188813	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:14188813G>T	ENST00000285021.7	-	15	2795	c.2581C>A	c.(2581-2583)Ctg>Atg	p.L861M	XPC_ENST00000449060.2_Missense_Mutation_p.L824M|RP11-434D12.1_ENST00000608606.1_Intron|AC093495.4_ENST00000428681.3_RNA|AC093495.4_ENST00000420253.1_RNA|RP11-434D12.1_ENST00000601399.1_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	861	Interaction with CETN2.|Interaction with ERCC2 and GTF2H1.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGACGCTTCAGCCTCTCCCTG	0.532			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"xeroderma pigmentosum, complementation group C"		E	0													55	59	58					3																	14188813		1987	4153	6140	SO:0001583	missense	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2581C>A	3.37:g.14188813G>T	ENSP00000285021:p.Leu861Met		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800745	0.70567	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.55052	0.54;0.59	5.18	4.31	0.51392	.	0.000000	0.64402	D	0.000001	T	0.73923	0.3649	M	0.86651	2.83	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.78484	-0.2186	10	0.72032	D	0.01	-14.7091	11.8844	0.52594	0.1447:0.0:0.8553:0.0	.	824;861	E9PH69;Q01831	.;XPC_HUMAN	M	861;824	ENSP00000285021:L861M;ENSP00000404002:L824M	ENSP00000285021:L861M	L	-	1	2	XPC	14163814	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	3.172000	0.50832	1.411000	0.46957	0.591000	0.81541	CTG		0.532	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		T	14188813	G	T	14188813	3	4	576	1	0	0	0	0	1	0	0	0	17446	962	34	4	249	4	XPC	3	14188813	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	3997334	14188813	183833617	18	31401											
SLC4A7	9497	hgsc.bcm.edu	37	3	27463253	27463253	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:27463253C>A	ENST00000295736.5	-	9	1327	c.1257G>T	c.(1255-1257)atG>atT	p.M419I	SLC4A7_ENST00000455077.1_Missense_Mutation_p.M300I|SLC4A7_ENST00000446700.1_Missense_Mutation_p.M411I|SLC4A7_ENST00000435667.2_Missense_Mutation_p.M304I|RN7SL859P_ENST00000578725.1_RNA|SLC4A7_ENST00000425128.2_Missense_Mutation_p.M411I|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000428386.1_Missense_Mutation_p.M295I|SLC4A7_ENST00000445684.1_Missense_Mutation_p.M415I|SLC4A7_ENST00000437179.1_Missense_Mutation_p.M300I|SLC4A7_ENST00000440156.1_Missense_Mutation_p.M415I|SLC4A7_ENST00000454389.1_Missense_Mutation_p.M428I	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	419					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GAATTTTTCTCATGAAATTCA	0.378																																																0													59	62	61					3																	27463253		2203	4300	6503	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1257G>T	3.37:g.27463253C>A	ENSP00000295736:p.Met419Ile		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946380	0.92593	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.55	5.55	0.83447	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.90515	0.7028	M	0.81341	2.54	0.52501	D	0.999957	P;P;P;D;P;P;P;P	0.63046	0.95;0.854;0.95;0.992;0.95;0.824;0.899;0.944	P;P;P;D;P;P;P;P	0.79108	0.823;0.803;0.823;0.992;0.823;0.702;0.837;0.803	D	0.91018	0.4855	10	0.66056	D	0.02	.	19.5162	0.95167	0.0:1.0:0.0:0.0	.	415;300;411;415;428;295;419;300	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;S4A7_HUMAN;.	I	419;295;428;415;300;411;300;415;304;411;315	ENSP00000295736:M419I;ENSP00000416368:M295I;ENSP00000390394:M428I;ENSP00000414797:M415I;ENSP00000394252:M300I;ENSP00000406605:M411I;ENSP00000407382:M300I;ENSP00000406804:M415I;ENSP00000395336:M304I;ENSP00000401949:M411I;ENSP00000388703:M315I	ENSP00000295736:M419I	M	-	3	0	SLC4A7	27438257	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.737000	0.84957	2.621000	0.88768	0.655000	0.94253	ATG		0.378	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		A	27463253	C	A	27463253	3	1	576	1	0	0	0	0	1	0	0	0	14664	826	29	4	2455	4	SLC4A7	3	27463253	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	13274440	27463253	170559177	19	31402											
SETD2	29072	hgsc.bcm.edu	37	3	47098445	47098445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:47098445G>A	ENST00000409792.3	-	15	6871	c.6829C>T	c.(6829-6831)Caa>Taa	p.Q2277*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2277	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACAGACTGTTGGTTTGAATCC	0.498			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													113	108	110					3																	47098445		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6829C>T	3.37:g.47098445G>A	ENSP00000386759:p.Gln2277*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	45	11.884077	0.99613	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.1	5.1	0.69264	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0757	0.93161	0.0:0.0:1.0:0.0	.	.	.	.	X	2277	.	ENSP00000386759:Q2277X	Q	-	1	0	SETD2	47073449	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	9.097000	0.94193	2.814000	0.96858	0.655000	0.94253	CAA		0.498	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47098445	G	A	47098445	4	1	576	1	0	0	0	0	0	1	0	0	14137	1357	47	2	893	2	SETD2	3	47098445	Nonsense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	19635192	47098445	150923985	20	31403											
SETD2	29072	ucsc.edu	37	3	47163824	47163824	+	Missense_Mutation	SNP	C	C	G	rs9311404	byFrequency	TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	C	G	C	C	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:47163824C>G	ENST00000409792.3	-	3	2344	c.2302G>C	c.(2302-2304)Gtg>Ctg	p.V768L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	768			V -> L (in dbSNP:rs9311404).		angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAATAATCCACAGTCATAACT	0.398			"N, F, S, Mis"		clear cell renal carcinoma								C|||	13	0.00259585	0.0098	0.0	5008	,	,		21005	0.0		0.0	False		,,,				2504	0.0						Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0								C	LEU/VAL	41,4365	44.6+/-78.6	0,41,2162	159	155	156		2302	-3.7	0	3	dbSNP_119	156	0,8600		0,0,4300	yes	missense	SETD2	NM_014159.6	32	0,41,6462	GG,GC,CC		0.0,0.9305,0.3152	benign	768/2565	47163824	41,12965	2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2302G>C	3.37:g.47163824C>G	ENSP00000386759:p.Val768Leu		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	11.31	1.600787	0.28534	0.009305	0.0	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89746	-2.56;1.28	5.18	-3.65	0.04502	.	1.478610	0.03796	N	0.263571	T	0.73481	0.3592	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.62656	-0.6808	9	.	.	.	.	8.7986	0.34894	0.0:0.6176:0.1537:0.2287	rs9311404;rs9311404	768;768	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	768;768;768;724	ENSP00000386759:V768L;ENSP00000416401:V724L	.	V	-	1	0	SETD2	47138828	0.002000	0.14202	0.009000	0.14445	0.591000	0.36615	-0.245000	0.08890	-0.508000	0.06540	-1.063000	0.02288	GTG		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47163824	C	G	47163824	3	3	576	1	0	0	0	0	1	0	0	0	14137	478	17	4	5468	4	SETD2	3	47163824	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	65379	47163824	150858606	21	31404											
DOCK3	1795	hgsc.bcm.edu;ucsc.edu	37	3	51376390	51376390	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:51376390A>G	ENST00000266037.9	+	37	3720	c.3697A>G	c.(3697-3699)Aag>Gag	p.K1233E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1233	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGATTAACAAGGAAGAAAT	0.453																																																0													48	46	46					3																	51376390		1907	4138	6045	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3697A>G	3.37:g.51376390A>G	ENSP00000266037:p.Lys1233Glu		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268408	0.80469	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.56611	0.45	5.0	5.0	0.66597	.	0.122244	0.85682	D	0.000000	T	0.56262	0.1973	M	0.72118	2.19	0.80722	D	1	P	0.45474	0.859	B	0.43155	0.41	T	0.63079	-0.6717	10	0.54805	T	0.06	.	14.8796	0.70522	1.0:0.0:0.0:0.0	.	1233	Q8IZD9	DOCK3_HUMAN	E	1233;29	ENSP00000266037:K1233E	ENSP00000266037:K1233E	K	+	1	0	DOCK3	51351430	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.106000	0.64143	0.528000	0.53228	AAG		0.453	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		G	51376390	A	G	51376390	3	3	576	1	0	0	0	0	1	0	0	0	4690	131	5	3	3843	3	DOCK3	3	51376390	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	4212566	51376390	146646040	22	31405											
APPL1	26060	hgsc.bcm.edu	37	3	57280129	57280129	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:57280129T>G	ENST00000288266.3	+	8	647	c.500T>G	c.(499-501)gTg>gGg	p.V167G		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	167	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		ACAGAAGATGTGTACACATCC	0.284																																																0													139	128	131					3																	57280129		2203	4299	6502	SO:0001583	missense	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.500T>G	3.37:g.57280129T>G	ENSP00000288266:p.Val167Gly		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511545	0.85389	.	.	ENSG00000157500	ENST00000288266	T	0.04917	3.53	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.13329	0.0323	L	0.49350	1.555	0.80722	D	1	P;D	0.56746	0.801;0.977	B;P	0.50049	0.412;0.629	T	0.00316	-1.1823	10	0.87932	D	0	-26.9581	16.0334	0.80603	0.0:0.0:0.0:1.0	.	150;167	B4DQX8;Q9UKG1	.;DP13A_HUMAN	G	167	ENSP00000288266:V167G	ENSP00000288266:V167G	V	+	2	0	APPL1	57255169	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.948000	0.87774	2.243000	0.73865	0.533000	0.62120	GTG		0.284	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		G	57280129	T	G	57280129	3	3	576	1	0	0	0	0	1	0	0	0	817	1696	59	5	530	5	APPL1	3	57280129	Missense_Mutation	SNP	T	TCGA-CZ-4861-01A-01D-1373-10	5903739	57280129	140742301	23	31406											
CADM2	253559	hgsc.bcm.edu	37	3	85851255	85851255	+	Silent	SNP	A	A	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:85851255A>C	ENST00000407528.2	+	2	182	c.120A>C	c.(118-120)gcA>gcC	p.A40A	CADM2_ENST00000405615.2_Silent_p.A42A|CADM2_ENST00000383699.3_Silent_p.A49A|CADM2-AS2_ENST00000467225.1_RNA	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	40	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTGGAACTGCAATTTTGACCT	0.413																																																0													98	82	87					3																	85851255		2203	4300	6503	SO:0001819	synonymous_variant	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.120A>C	3.37:g.85851255A>C			G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	ENST00000407528.2	37	CCDS54614.1																																																																																				0.413	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		C	85851255	A	C	85851255	2	2	576	1	0	0	0	0	0	0	0	1	2569	117	5	5		5	CADM2	3	85851255	Silent	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	28571126	85851255	112171175	24	31407											
CRYBG3	131544	hgsc.bcm.edu;ucsc.edu	37	3	97617751	97617751	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:97617751C>A	ENST00000182096.4	+	10	1946	c.1882C>A	c.(1882-1884)Cta>Ata	p.L628I		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2576							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TTCTGTCACACTATTTGAATC	0.313																																																0													73	64	67					3																	97617751		1793	4069	5862	SO:0001583	missense	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1882C>A	3.37:g.97617751C>A	ENSP00000182096:p.Leu628Ile		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.209407	0.79240	.	.	ENSG00000080200	ENST00000182096	T	0.81163	-1.46	5.57	5.57	0.84162	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.41823	D	0.000819	D	0.84611	0.5510	L	0.33792	1.035	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.81320	-0.0986	10	0.26408	T	0.33	.	18.6672	0.91495	0.0:1.0:0.0:0.0	.	628	Q68DQ2	CRBG3_HUMAN	I	628	ENSP00000182096:L628I	ENSP00000182096:L628I	L	+	1	2	CRYBG3	99100441	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	1.552000	0.36244	2.779000	0.95612	0.591000	0.81541	CTA		0.313	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		A	97617751	C	A	97617751	3	1	576	1	0	0	0	0	1	0	0	0	3915	564	20	4	1920	4	CRYBG3	3	97617751	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	11766496	97617751	100404679	25	31408											
SI	6476	hgsc.bcm.edu	37	3	164732948	164732948	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:164732948A>G	ENST00000264382.3	-	33	4024	c.3962T>C	c.(3961-3963)gTc>gCc	p.V1321A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1321	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGGCCATTTGACAAAGACATC	0.308										HNSCC(35;0.089)																																						0													95	90	92					3																	164732948		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3962T>C	3.37:g.164732948A>G	ENSP00000264382:p.Val1321Ala		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261453	0.59431	.	.	ENSG00000090402	ENST00000264382	D	0.91996	-2.95	5.35	5.35	0.76521	Glycoside hydrolase, superfamily (1);	0.179622	0.48286	D	0.000198	D	0.91768	0.7396	M	0.71920	2.185	0.38840	D	0.95604	B	0.17465	0.022	B	0.24974	0.057	D	0.90522	0.4489	10	0.87932	D	0	.	15.4836	0.75548	1.0:0.0:0.0:0.0	.	1321	P14410	SUIS_HUMAN	A	1321	ENSP00000264382:V1321A	ENSP00000264382:V1321A	V	-	2	0	SI	166215642	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	8.263000	0.89864	2.240000	0.73641	0.482000	0.46254	GTC		0.308	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		G	164732948	A	G	164732948	3	3	576	1	0	0	0	0	1	0	0	0	14303	275	10	3	1585	3	SI	3	164732948	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	67115197	164732948	33289482	26	31409											
GPR160	26996	hgsc.bcm.edu;ucsc.edu	37	3	169802564	169802564	+	Silent	SNP	G	G	A	rs148749842		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:169802564G>A	ENST00000355897.5	+	4	1412	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTAAAGTTCAGATTCCAGCAT	0.308																																																0													139	138	138					3																	169802564		2202	4299	6501	SO:0001819	synonymous_variant	26996			AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"GPCR / Class A : Orphans"	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.804G>A	3.37:g.169802564G>A			D3DNQ2	Silent	SNP	ENST00000355897.5	37	CCDS3211.1																																																																																				0.308	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		A	169802564	G	A	169802564	2	1	576	1	0	0	0	0	0	0	0	1	6666	933	33	2		2	GPR160	3	169802564	Silent	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	5069616	169802564	28219866	27	31410											
ABCC5	10057	hgsc.bcm.edu;ucsc.edu	37	3	183706414	183706414	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:183706414A>C	ENST00000334444.6	-	4	629	c.389T>G	c.(388-390)aTg>aGg	p.M130R	ABCC5_ENST00000382494.2_Missense_Mutation_p.M130R|ABCC5_ENST00000265586.6_Missense_Mutation_p.M130R|ABCC5_ENST00000427120.2_Missense_Mutation_p.M130R|ABCC5_ENST00000392579.2_Missense_Mutation_p.M130R	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	130					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CACGTCTTCCATTGAGAGCTC	0.572																																																0													90	85	87					3																	183706414		2203	4300	6503	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.389T>G	3.37:g.183706414A>C	ENSP00000333926:p.Met130Arg		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196075	0.78902	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586;ENST00000427120;ENST00000392579;ENST00000382494;ENST00000437341	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.99	5.99	0.97316	.	0.145275	0.64402	D	0.000004	D	0.88800	0.6535	L	0.39514	1.22	0.51233	D	0.999914	D;D;B;D;B	0.67145	0.991;0.991;0.284;0.996;0.037	P;P;B;P;B	0.60682	0.836;0.836;0.162;0.878;0.008	D	0.85804	0.1375	10	0.17369	T	0.5	-15.7919	16.4943	0.84223	1.0:0.0:0.0:0.0	.	130;130;130;130;130	A5PKY6;Q29ZA9;Q86UX3;Q86W30;O15440	.;.;.;.;MRP5_HUMAN	R	130;66;130;130;130;130;130	ENSP00000333926:M130R;ENSP00000265586:M130R;ENSP00000404809:M130R;ENSP00000376358:M130R;ENSP00000371934:M130R;ENSP00000399726:M130R	ENSP00000265586:M130R	M	-	2	0	ABCC5	185189108	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.088000	0.76901	2.291000	0.77112	0.533000	0.62120	ATG		0.572	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		C	183706414	A	C	183706414	3	2	576	1	0	0	0	0	1	0	0	0	56	217	8	5	4072	5	ABCC5	3	183706414	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	13903850	183706414	14316016	28	31411											
OSTalpha	200931	hgsc.bcm.edu;ucsc.edu	37	3	195955792	195955792	+	Splice_Site	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:195955792G>A	ENST00000296327.5	+	6	842		c.e6+1			NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit						bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	CCCAGCAGACGTAAGCCGGGA	0.542																																																0													94	82	86					3																	195955792		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.633+1G>A	3.37:g.195955792G>A			Q6ZMC7	Splice_Site	SNP	ENST00000296327.5	37	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774225	0.69992	.	.	ENSG00000163959	ENST00000296327	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6321	0.95713	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC069257.9	197440189	1.000000	0.71417	0.994000	0.49952	0.748000	0.42578	6.403000	0.73264	2.884000	0.98904	0.655000	0.94253	.		0.542	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672	Intron	A	195955792	G	A	195955792	5	1	576	1	0	0	0	0	0	0	1	0	11302	1159	40	1	656	1	OSTalpha	3	195955792	Splice_Site	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	12249378	195955792	2066638	29	31412											
SCARB2	950	hgsc.bcm.edu;ucsc.edu	37	4	77095296	77095296	+	Splice_Site	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr4:77095296C>T	ENST00000264896.2	-	7	1344		c.e7+1		SCARB2_ENST00000452464.2_Splice_Site	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2						cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TGAGTTCTTACCATTCTTGCA	0.483																																																0													203	231	222					4																	77095296		2203	4300	6503	SO:0001630	splice_region_variant	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.994+1G>A	4.37:g.77095296C>T			B4DKD8|E7EM68|Q53Y63	Splice_Site	SNP	ENST00000264896.2	37	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887165	0.91814	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.172	0.89749	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCARB2	77314320	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.330000	0.79181	2.591000	0.87537	0.655000	0.94253	.		0.483	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506	Intron	T	77095296	C	T	77095296	5	4	576	1	0	0	0	0	0	0	1	0	13888	521	18	2	465	2	SCARB2	4	77095296	Splice_Site	SNP	C	TCGA-CZ-4861-01A-01D-1373-10		77095296	114058980	30	31413											
TET2	54790	hgsc.bcm.edu;ucsc.edu	37	4	106193890	106193890	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr4:106193890G>A	ENST00000540549.1	+	10	5212	c.4352G>A	c.(4351-4353)cGg>cAg	p.R1451Q	TET2_ENST00000513237.1_Missense_Mutation_p.R1472Q|TET2_ENST00000380013.4_Missense_Mutation_p.R1451Q|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1451					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTTCTTTTCGGCGAAAAGTC	0.483			"Mis N, F"		MDS																																		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													141	133	135					4																	106193890		692	1591	2283	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4352G>A	4.37:g.106193890G>A	ENSP00000442788:p.Arg1451Gln		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847914	0.71603	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.21191	2.02;2.02;2.02	5.23	3.46	0.39613	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.40767	0.1130	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.10706	-1.0618	9	0.35671	T	0.21	-13.2179	10.9041	0.47069	0.0706:0.1308:0.7987:0.0	.	1472;1451	E7EQS8;Q6N021	.;TET2_HUMAN	Q	1451;1472;1451	ENSP00000442788:R1451Q;ENSP00000425443:R1472Q;ENSP00000369351:R1451Q	ENSP00000369351:R1451Q	R	+	2	0	TET2	106413339	1.000000	0.71417	0.537000	0.28052	0.384000	0.30261	4.861000	0.62969	0.860000	0.35481	0.655000	0.94253	CGG		0.483	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		A	106193890	G	A	106193890	3	1	576	1	0	0	0	0	1	0	0	0	15775	1116	39	1	4471	1	TET2	4	106193890	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	29098594	106193890	84960386	31	31414											
NNT	23530	hgsc.bcm.edu	37	5	43675692	43675692	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr5:43675692T>A	ENST00000264663.5	+	18	2935	c.2714T>A	c.(2713-2715)aTt>aAt	p.I905N	NNT_ENST00000344920.4_Missense_Mutation_p.I905N|NNT_ENST00000512996.2_Missense_Mutation_p.I774N	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	905					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CCCATGGAAATTTCTGGCACA	0.408																																																0													93	87	89					5																	43675692		2203	4300	6503	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2714T>A	5.37:g.43675692T>A	ENSP00000264663:p.Ile905Asn		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728066	0.89390	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91351	-2.83;-2.83;-2.83	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.94765	0.8310	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.94920	0.8072	10	0.59425	D	0.04	-14.5513	16.3426	0.83092	0.0:0.0:0.0:1.0	.	905	Q13423	NNTM_HUMAN	N	420;905;905;774	ENSP00000264663:I905N;ENSP00000343873:I905N;ENSP00000426343:I774N	ENSP00000264663:I905N	I	+	2	0	NNT	43711449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.612000	0.82975	2.317000	0.78254	0.460000	0.39030	ATT		0.408	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		A	43675692	T	A	43675692	3	1	576	1	0	0	0	0	1	0	0	0	10512	1493	52	5	2780	5	NNT	5	43675692	Missense_Mutation	SNP	T	TCGA-CZ-4861-01A-01D-1373-10		43675692	137239568	32	31415											
SLC34A1	6569	hgsc.bcm.edu	37	5	176824836	176824836	+	Missense_Mutation	SNP	C	C	G	rs372577906		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr5:176824836C>G	ENST00000324417.5	+	13	1560	c.1469C>G	c.(1468-1470)cCg>cGg	p.P490R	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	490					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGGTACCCGGTGCCCTGC	0.607																																																0													102	89	93					5																	176824836		2203	4300	6503	SO:0001583	missense	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1469C>G	5.37:g.176824836C>G	ENSP00000321424:p.Pro490Arg		B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180810	0.78677	.	.	ENSG00000131183	ENST00000324417	D	0.86164	-2.08	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.96142	3.775	0.50039	D	0.999846	D	0.89917	1.0	D	0.91635	0.999	D	0.96073	0.9047	10	0.87932	D	0	-17.1008	12.1674	0.54138	0.0:0.9216:0.0:0.0784	.	490	Q06495	NPT2A_HUMAN	R	490	ENSP00000321424:P490R	ENSP00000321424:P490R	P	+	2	0	SLC34A1	176757442	1.000000	0.71417	0.968000	0.41197	0.978000	0.69477	4.849000	0.62882	2.426000	0.82243	0.305000	0.20034	CCG		0.607	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		G	176824836	C	G	176824836	3	3	576	1	0	0	0	0	1	0	0	0	14573	652	23	4	1606	4	SLC34A1	5	176824836	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	133149144	176824836	4090424	33	31416											
F12	2161	hgsc.bcm.edu	37	5	176832389	176832389	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr5:176832389A>C	ENST00000253496.3	-	5	380	c.332T>G	c.(331-333)gTg>gGg	p.V111G	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	111	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	TGGCATGTTCACACAGGTCCC	0.597									Hereditary Angioedema																																							0													78	71	73					5																	176832389		2203	4300	6503	SO:0001583	missense	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.332T>G	5.37:g.176832389A>C	ENSP00000253496:p.Val111Gly		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908406	0.52333	.	.	ENSG00000131187	ENST00000253496	D	0.93366	-3.21	5.91	4.76	0.60689	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.372094	0.19953	N	0.102385	D	0.94102	0.8109	M	0.73217	2.22	0.50313	D	0.999863	D	0.65815	0.995	P	0.60415	0.874	D	0.92168	0.5741	10	0.33940	T	0.23	.	4.8405	0.13487	0.7508:0.0:0.0844:0.1648	.	111	P00748	FA12_HUMAN	G	111	ENSP00000253496:V111G	ENSP00000253496:V111G	V	-	2	0	F12	176764995	1.000000	0.71417	0.993000	0.49108	0.330000	0.28571	1.650000	0.37292	2.254000	0.74563	0.533000	0.62120	GTG		0.597	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			C	176832389	A	C	176832389	3	2	576	1	0	0	0	0	1	0	0	0	5341	159	6	5	1555	5	F12	5	176832389	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	7553	176832389	4082871	34	31417											
PGBD1	84547	hgsc.bcm.edu;ucsc.edu	37	6	28269595	28269595	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr6:28269595C>T	ENST00000405948.2	+	7	2384	c.1964C>T	c.(1963-1965)aCc>aTc	p.T655I	PGBD1_ENST00000259883.3_Missense_Mutation_p.T655I	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	655						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGAACAGGACCGAAAAATGT	0.368																																																0													93	90	91					6																	28269595		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1964C>T	6.37:g.28269595C>T	ENSP00000385213:p.Thr655Ile		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482027	0.26598	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17213	2.29;2.29	4.84	3.03	0.35002	.	0.573697	0.15221	N	0.273923	T	0.02807	0.0084	N	0.19112	0.55	0.23926	N	0.996445	B	0.10296	0.003	B	0.17979	0.02	T	0.46345	-0.9198	10	0.13853	T	0.58	-0.5782	7.6552	0.28371	0.0:0.8054:0.0:0.1946	.	655	Q96JS3	PGBD1_HUMAN	I	655	ENSP00000385213:T655I;ENSP00000259883:T655I	ENSP00000259883:T655I	T	+	2	0	PGBD1	28377574	0.520000	0.26250	0.368000	0.25939	0.925000	0.55904	-0.002000	0.12924	0.733000	0.32492	0.655000	0.94253	ACC		0.368	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			T	28269595	C	T	28269595	3	4	576	1	0	0	0	0	1	0	0	0	11782	507	18	2	1986	2	PGBD1	6	28269595	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10		28269595	142845472	35	31418											
CNR1	1268	hgsc.bcm.edu;ucsc.edu	37	6	88853921	88853921	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr6:88853921G>T	ENST00000537554.1	-	2	4635	c.1073C>A	c.(1072-1074)cCt>cAt	p.P358H	CNR1_ENST00000549890.1_Missense_Mutation_p.P358H|CNR1_ENST00000369499.2_Missense_Mutation_p.P358H|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.P358H|CNR1_ENST00000549716.1_Missense_Mutation_p.P297H|CNR1_ENST00000468898.1_Missense_Mutation_p.P325H|CNR1_ENST00000428600.2_Missense_Mutation_p.P358H|CNR1_ENST00000369501.2_Missense_Mutation_p.P358H	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	358					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAAGCAGAGGGCCCCAGCA	0.532																																																0													133	141	138					6																	88853921		2203	4300	6503	SO:0001583	missense	1268			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1073C>A	6.37:g.88853921G>T	ENSP00000441046:p.Pro358His		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790370	0.70337	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92741	0.6208	10	0.87932	D	0	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	325;358	P21554-3;P21554	.;CNR1_HUMAN	H	358;358;358;358;358;325;358;297	ENSP00000358513:P358H;ENSP00000442689:P358H;ENSP00000441046:P358H;ENSP00000358511:P358H;ENSP00000446819:P358H;ENSP00000420188:P325H;ENSP00000412192:P358H;ENSP00000449549:P297H	ENSP00000358511:P358H	P	-	2	0	CNR1	88910640	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.869000	0.99810	2.880000	0.98712	0.655000	0.94253	CCT		0.532	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			T	88853921	G	T	88853921	3	4	576	1	0	0	0	0	1	0	0	0	3633	1000	35	4	349	4	CNR1	6	88853921	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	60584326	88853921	82261146	36	31419											
SMPD2	6610	hgsc.bcm.edu;ucsc.edu	37	6	109763200	109763200	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr6:109763200G>A	ENST00000258052.3	+	4	607	c.248G>A	c.(247-249)tGt>tAt	p.C83Y	PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	83					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		AGTGGCCTCTGTGTCTTCTCC	0.517																																																0													253	250	251					6																	109763200		2203	4300	6503	SO:0001583	missense	6610			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.248G>A	6.37:g.109763200G>A	ENSP00000258052:p.Cys83Tyr		Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351561	0.61183	.	.	ENSG00000135587	ENST00000258052	T	0.80824	-1.42	5.22	5.22	0.72569	Endonuclease/exonuclease/phosphatase (2);	0.096347	0.64402	D	0.000001	D	0.84880	0.5570	M	0.71036	2.16	0.49483	D	0.99979	D	0.76494	0.999	D	0.74348	0.983	T	0.82002	-0.0673	10	0.27785	T	0.31	-8.9649	14.1553	0.65413	0.0:0.0:1.0:0.0	.	83	O60906	NSMA_HUMAN	Y	83	ENSP00000258052:C83Y	ENSP00000258052:C83Y	C	+	2	0	SMPD2	109869893	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.558000	0.67319	2.720000	0.93068	0.655000	0.94253	TGT		0.517	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			A	109763200	G	A	109763200	3	1	576	1	0	0	0	0	1	0	0	0	14811	1377	48	2	262	2	SMPD2	6	109763200	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	20909279	109763200	61351867	37	31420											
MTHFD1L	25902	hgsc.bcm.edu;ucsc.edu	37	6	151336687	151336687	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr6:151336687A>T	ENST00000367321.3	+	24	2718	c.2444A>T	c.(2443-2445)gAg>gTg	p.E815V		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	815	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TTGGTGTGTGAGCTTGCAAAG	0.502																																																0													176	156	163					6																	151336687		2203	4300	6503	SO:0001583	missense	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2444A>T	6.37:g.151336687A>T	ENSP00000356290:p.Glu815Val		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067308	0.76301	.	.	ENSG00000120254	ENST00000367321;ENST00000420192	T;T	0.25250	1.81;1.81	5.98	5.98	0.97165	.	0.275476	0.42420	D	0.000710	T	0.37972	0.1023	M	0.89414	3.03	0.80722	D	1	P;B;P	0.49447	0.924;0.172;0.849	P;B;P	0.48738	0.588;0.281;0.502	T	0.50285	-0.8846	10	0.72032	D	0.01	.	16.4566	0.84019	1.0:0.0:0.0:0.0	.	816;570;815	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	V	815;46	ENSP00000356290:E815V;ENSP00000395158:E46V	ENSP00000356290:E815V	E	+	2	0	MTHFD1L	151378380	0.780000	0.28664	1.000000	0.80357	0.988000	0.76386	2.742000	0.47434	2.293000	0.77203	0.477000	0.44152	GAG		0.502	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		T	151336687	A	T	151336687	3	4	576	1	0	0	0	0	1	0	0	0	9930	304	11	5	2538	5	MTHFD1L	6	151336687	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	41573487	151336687	19778380	38	31421											
SYNE1	23345	hgsc.bcm.edu;ucsc.edu	37	6	152776696	152776696	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr6:152776696C>A	ENST00000367255.5	-	24	3358	c.2757G>T	c.(2755-2757)aaG>aaT	p.K919N	SYNE1_ENST00000265368.4_Missense_Mutation_p.K919N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K926N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K909N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K919N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K926N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K985N|SYNE1_ENST00000495090.2_Missense_Mutation_p.K486N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K919N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	919					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACATGCTTCTTCCAATCTC	0.428										HNSCC(10;0.0054)																																						0													115	114	114					6																	152776696		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2757G>T	6.37:g.152776696C>A	ENSP00000356224:p.Lys919Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.87	3.496117	0.64186	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.48	3.44	0.39384	.	0.096969	0.44285	D	0.000477	T	0.25121	0.0610	L	0.43152	1.355	0.80722	D	1	P;P;P;P;D;P;P	0.56035	0.835;0.611;0.835;0.731;0.974;0.611;0.731	B;B;P;P;P;B;P	0.54100	0.35;0.159;0.549;0.452;0.742;0.159;0.452	T	0.02385	-1.1167	10	0.18710	T	0.47	.	11.0095	0.47654	0.0:0.7502:0.0:0.2498	.	902;919;486;909;919;919;926	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	N	919;926;919;926;985;919;909;919;486	ENSP00000356224:K919N;ENSP00000396024:K926N;ENSP00000265368:K919N;ENSP00000390975:K926N;ENSP00000341887:K985N;ENSP00000356222:K919N;ENSP00000356217:K909N;ENSP00000414510:K919N;ENSP00000438508:K486N	ENSP00000265368:K919N	K	-	3	2	SYNE1	152818389	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	0.473000	0.22132	1.297000	0.44761	0.655000	0.94253	AAG		0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152776696	C	A	152776696	3	1	576	1	0	0	0	0	1	0	0	0	15450	912	32	4	24201	4	SYNE1	6	152776696	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	1440009	152776696	18338371	39	31422											
TWISTNB	221830	hgsc.bcm.edu;ucsc.edu	37	7	19738224	19738224	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr7:19738224G>A	ENST00000222567.5	-	4	802	c.732C>T	c.(730-732)acC>acT	p.T244T		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	244	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTAGCTTTGTGGTACCACTGT	0.428																																																0													237	246	243					7																	19738224		2203	4300	6503	SO:0001819	synonymous_variant	221830			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.732C>T	7.37:g.19738224G>A			A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	CCDS34606.1																																																																																				0.428	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			A	19738224	G	A	19738224	2	1	576	1	0	0	0	0	0	0	0	1	16789	1335	47	2		2	TWISTNB	7	19738224	Silent	SNP	G	TCGA-CZ-4861-01A-01D-1373-10		19738224	139400439	40	31423											
PKD1L1	168507	hgsc.bcm.edu;ucsc.edu	37	7	47925313	47925313	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr7:47925313G>A	ENST00000289672.2	-	18	3226	c.3176C>T	c.(3175-3177)cCc>cTc	p.P1059L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1059	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCTGTGGGTGGGCTGACTTCT	0.572																																																0													78	86	84					7																	47925313		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3176C>T	7.37:g.47925313G>A	ENSP00000289672:p.Pro1059Leu		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630896	0.28978	.	.	ENSG00000158683	ENST00000289672	T	0.19105	2.17	4.16	-2.5	0.06384	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	15.609700	0.02790	U	0.121989	T	0.18173	0.0436	L	0.47716	1.5	0.09310	N	1	P	0.45176	0.852	B	0.42462	0.388	T	0.23404	-1.0189	10	0.66056	D	0.02	-10.0006	0.1547	0.00097	0.2945:0.1492:0.2517:0.3046	.	1059	Q8TDX9	PK1L1_HUMAN	L	1059	ENSP00000289672:P1059L	ENSP00000289672:P1059L	P	-	2	0	PKD1L1	47891838	0.005000	0.15991	0.000000	0.03702	0.020000	0.10135	1.242000	0.32755	-0.164000	0.10927	-0.163000	0.13421	CCC		0.572	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47925313	G	A	47925313	3	1	576	1	0	0	0	0	1	0	0	0	11966	1232	43	2	5533	2	PKD1L1	7	47925313	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	28187089	47925313	111213350	41	31424											
ZKSCAN1	7586	hgsc.bcm.edu;ucsc.edu	37	7	99631799	99631799	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr7:99631799G>A	ENST00000324306.6	+	6	1905	c.1671G>A	c.(1669-1671)gcG>gcA	p.A557A	ZKSCAN1_ENST00000535170.1_Silent_p.A344A|ZKSCAN1_ENST00000426572.1_Silent_p.A521A	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CATTTGGCGCGTTCCTGAAAA	0.488																																																0													95	90	92					7																	99631799		2203	4300	6503	SO:0001819	synonymous_variant	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1671G>A	7.37:g.99631799G>A			A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	ENST00000324306.6	37	CCDS34698.1																																																																																				0.488	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		A	99631799	G	A	99631799	2	1	576	1	0	0	0	0	0	0	0	1	17691	1132	40	1		1	ZKSCAN1	7	99631799	Silent	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	51706486	99631799	59506864	42	31425											
MKLN1	4289	hgsc.bcm.edu;ucsc.edu	37	7	131147981	131147982	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr7:131147981_131147982delAT	ENST00000352689.6	+	13	1571_1572	c.1531_1532delAT	c.(1531-1533)atgfs	p.M511fs	MKLN1_ENST00000421797.2_Frame_Shift_Del_p.M419fs	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	511					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TGTAGTTCCAATGACAGGATTT	0.307																																																0																																										SO:0001589	frameshift_variant	4289			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1531_1532delAT	7.37:g.131147981_131147982delAT	ENSP00000323527:p.Met511fs		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Frame_Shift_Del	DEL	ENST00000352689.6	37	CCDS34754.1																																																																																				0.307	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		-	131147982	AT	-	131147981	7	5	576	1	0	1	0	1	0	0	0	0	9605	101	4	0	1614	0	MKLN1	7	131147981	Frame_Shift_Del	DEL	AT	TCGA-CZ-4861-01A-01D-1373-10	31516182	131147981	27990682	43	31426											
RUNX1T1	862	hgsc.bcm.edu	37	8	93004069	93004069	+	Silent	SNP	T	T	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr8:93004069T>G	ENST00000523629.1	-	7	1243	c.789A>C	c.(787-789)ccA>ccC	p.P263P	RUNX1T1_ENST00000518844.1_Silent_p.P236P|RUNX1T1_ENST00000520724.1_Silent_p.P226P|RUNX1T1_ENST00000422361.2_Silent_p.P226P|RUNX1T1_ENST00000396218.1_Silent_p.P236P|RUNX1T1_ENST00000360348.2_Silent_p.P226P|RUNX1T1_ENST00000265814.3_Silent_p.P263P|RUNX1T1_ENST00000436581.2_Silent_p.P274P	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	263					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCGCTTGCTTGGATGTTCTG	0.488																																																0													163	138	146					8																	93004069		2203	4300	6503	SO:0001819	synonymous_variant	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.789A>C	8.37:g.93004069T>G			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																				0.488	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		G	93004069	T	G	93004069	2	3	576	1	0	0	0	0	0	0	0	1	13753	1799	63	5		5	RUNX1T1	8	93004069	Silent	SNP	T	TCGA-CZ-4861-01A-01D-1373-10		93004069	53359953	44	31427											
NUDCD1	84955	hgsc.bcm.edu	37	8	110255494	110255494	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr8:110255494A>G	ENST00000239690.4	-	10	1870	c.1496T>C	c.(1495-1497)tTt>tCt	p.F499S	NUDCD1_ENST00000427660.2_Missense_Mutation_p.F470S	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			AGCACAGGCAAAAAATTTTTT	0.398																																																0													118	129	125					8																	110255494		2203	4300	6503	SO:0001583	missense	84955			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1496T>C	8.37:g.110255494A>G	ENSP00000239690:p.Phe499Ser			Missense_Mutation	SNP	ENST00000239690.4	37	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.385968	0.25031	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.15834	2.4;2.39	5.11	5.11	0.69529	.	0.345473	0.33772	N	0.004566	T	0.10380	0.0254	N	0.17800	0.525	0.36766	D	0.883559	B;B;B	0.24882	0.013;0.113;0.017	B;B;B	0.21151	0.013;0.033;0.019	T	0.08722	-1.0708	10	0.06757	T	0.87	-7.0774	14.3729	0.66854	1.0:0.0:0.0:0.0	.	412;499;470	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	S	499;470	ENSP00000239690:F499S;ENSP00000410707:F470S	ENSP00000239690:F499S	F	-	2	0	NUDCD1	110324670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.441000	0.59981	2.049000	0.60858	0.455000	0.32223	TTT		0.398	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		G	110255494	A	G	110255494	3	3	576	1	0	0	0	0	1	0	0	0	10724	14	1	3	259	3	NUDCD1	8	110255494	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	17251425	110255494	36108528	45	31428											
SYBU	55638	hgsc.bcm.edu;ucsc.edu	37	8	110588188	110588188	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr8:110588188C>A	ENST00000422135.1	-	8	1454	c.939G>T	c.(937-939)tgG>tgT	p.W313C	SYBU_ENST00000446070.2_Missense_Mutation_p.W312C|SYBU_ENST00000424158.2_Missense_Mutation_p.W318C|SYBU_ENST00000532779.1_Missense_Mutation_p.W245C|SYBU_ENST00000533065.1_Missense_Mutation_p.W194C|SYBU_ENST00000440310.1_Missense_Mutation_p.W313C|SYBU_ENST00000528647.1_Missense_Mutation_p.W312C|SYBU_ENST00000399066.3_Missense_Mutation_p.W310C|SYBU_ENST00000528331.1_Missense_Mutation_p.W194C|SYBU_ENST00000433638.1_Missense_Mutation_p.W313C|SYBU_ENST00000419099.1_Missense_Mutation_p.W312C|SYBU_ENST00000529690.1_Missense_Mutation_p.W183C|SYBU_ENST00000276646.9_Missense_Mutation_p.W313C|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000533171.1_Missense_Mutation_p.W313C|SYBU_ENST00000408908.2_Missense_Mutation_p.W313C|SYBU_ENST00000529175.1_Missense_Mutation_p.W107C|SYBU_ENST00000533895.1_Missense_Mutation_p.W312C|SYBU_ENST00000408889.3_Missense_Mutation_p.W194C	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	313	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCTCCTCAATCCAGTCCTCTC	0.473																																																0													56	57	57					8																	110588188		1989	4217	6206	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.939G>T	8.37:g.110588188C>A	ENSP00000407118:p.Trp313Cys		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042551	0.75732	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83580	0.5285	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	D	0.84968	0.0881	9	0.87932	D	0	-16.9058	19.0385	0.92989	0.0:1.0:0.0:0.0	.	183;245;312;313;310	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	C	312;318;245;310;312;194;107;313;312;313;312;313;313;313;194;194;183;313	.	ENSP00000276646:W313C	W	-	3	0	SYBU	110657364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.743000	0.85020	2.736000	0.93811	0.591000	0.81541	TGG		0.473	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		A	110588188	C	A	110588188	3	1	576	1	0	0	0	0	1	0	0	0	15432	856	30	4	1056	4	SYBU	8	110588188	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	332694	110588188	35775834	46	31429											
PTPRD	5789	hgsc.bcm.edu;ucsc.edu	37	9	8507401	8507401	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr9:8507401G>A	ENST00000381196.4	-	19	2120	c.1577C>T	c.(1576-1578)cCt>cTt	p.P526L	PTPRD_ENST00000486161.1_Missense_Mutation_p.P526L|PTPRD_ENST00000540109.1_Missense_Mutation_p.P526L|PTPRD_ENST00000356435.5_Missense_Mutation_p.P526L|PTPRD_ENST00000397606.3_Missense_Mutation_p.P516L|PTPRD_ENST00000397611.3_Missense_Mutation_p.P523L|PTPRD_ENST00000537002.1_Missense_Mutation_p.P523L|PTPRD_ENST00000397617.3_Missense_Mutation_p.P516L|PTPRD_ENST00000360074.4_Missense_Mutation_p.P513L|PTPRD_ENST00000358503.5_Missense_Mutation_p.P513L|PTPRD_ENST00000355233.5_Missense_Mutation_p.P526L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	526	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCAGACTCAGGTTCTGCTTT	0.448										TSP Lung(15;0.13)																																						0													202	187	192					9																	8507401		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1577C>T	9.37:g.8507401G>A	ENSP00000370593:p.Pro526Leu		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246015	0.80024	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.050933	0.85682	D	0.000000	T	0.57917	0.2086	L	0.43646	1.37	0.80722	D	1	B;B;B;B;B;B;B;P;B	0.38535	0.068;0.014;0.205;0.014;0.002;0.012;0.062;0.635;0.077	B;B;B;B;B;B;B;P;B	0.46389	0.145;0.102;0.215;0.063;0.01;0.037;0.115;0.515;0.375	T	0.46331	-0.9199	9	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	516;520;526;526;523;523;513;526;526	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	L	526;526;513;513;526;516;523;523;526;526;526;516	ENSP00000370593:P526L;ENSP00000348812:P526L;ENSP00000353187:P513L;ENSP00000351293:P513L;ENSP00000347373:P526L;ENSP00000380741:P516L;ENSP00000380735:P523L;ENSP00000440515:P523L;ENSP00000438164:P526L;ENSP00000417093:P526L;ENSP00000380731:P516L	.	P	-	2	0	PTPRD	8497401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.880000	0.98712	0.650000	0.86243	CCT		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			A	8507401	G	A	8507401	3	1	576	1	0	0	0	0	1	0	0	0	12805	1000	35	2	4329	2	PTPRD	9	8507401	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10		8507401	132706030	47	31430											
INVS	27130	hgsc.bcm.edu;ucsc.edu	37	9	103060232	103060232	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr9:103060232G>T	ENST00000262457.2	+	16	3216	c.3031G>T	c.(3031-3033)Ggg>Tgg	p.G1011W	INVS_ENST00000541287.1_Missense_Mutation_p.G915W|INVS_ENST00000262456.2_Missense_Mutation_p.G841W	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	1011					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTCTCACGAAGGGAAAATACA	0.448																																																0													147	137	141					9																	103060232		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.3031G>T	9.37:g.103060232G>T	ENSP00000262457:p.Gly1011Trp		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727170	0.69074	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.63580	0.23;0.45;-0.05	4.96	4.96	0.65561	.	0.170938	0.52532	D	0.000070	T	0.77370	0.4120	M	0.66939	2.045	0.45733	D	0.998634	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79063	-0.1957	10	0.72032	D	0.01	.	15.8695	0.79101	0.0:0.0:1.0:0.0	.	915;1011;841	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	W	1011;915;841	ENSP00000262457:G1011W;ENSP00000444454:G915W;ENSP00000262456:G841W	ENSP00000262456:G841W	G	+	1	0	INVS	102100053	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.830000	0.48136	2.741000	0.93983	0.555000	0.69702	GGG		0.448	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		T	103060232	G	T	103060232	3	4	576	1	0	0	0	0	1	0	0	0	7789	1000	35	4	3089	4	INVS	9	103060232	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	94552831	103060232	38153199	48	31431											
ARPC5L	81873	hgsc.bcm.edu;ucsc.edu	37	9	127637307	127637307	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr9:127637307G>T	ENST00000353214.2	+	5	1528	c.276G>T	c.(274-276)gaG>gaT	p.E92D	ARPC5L_ENST00000259477.6_Missense_Mutation_p.E92D|ARPC5L_ENST00000465124.1_3'UTR			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	92					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						AGAGCAGTGAGATTGAGCAGG	0.512																																																0													119	109	113					9																	127637307		2203	4300	6503	SO:0001583	missense	81873			AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"Actin related protein 2/3 complex subunits"	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.276G>T	9.37:g.127637307G>T	ENSP00000345361:p.Glu92Asp		Q7Z523	Missense_Mutation	SNP	ENST00000353214.2	37	CCDS6859.1	.	.	.	.	.	.	.	.	.	.	G	7.012	0.556899	0.13436	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.97	-6.24	0.02046	.	0.064429	0.64402	D	0.000004	T	0.19127	0.0459	N	0.01410	-0.885	0.37130	D	0.901237	B;B	0.12630	0.004;0.006	B;B	0.21360	0.01;0.034	T	0.06356	-1.0831	9	0.87932	D	0	-14.5763	10.5865	0.45286	0.3:0.194:0.506:0.0	.	92;92	B3KPC7;Q9BPX5	.;ARP5L_HUMAN	D	92	.	ENSP00000259477:E92D	E	+	3	2	ARPC5L	126677128	0.044000	0.20184	0.937000	0.37676	0.847000	0.48162	-0.614000	0.05604	-0.620000	0.05641	-0.302000	0.09304	GAG		0.512	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	NM_030978		T	127637307	G	T	127637307	3	4	576	1	0	0	0	0	1	0	0	0	975	933	33	4	286	4	ARPC5L	9	127637307	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	24577075	127637307	13576124	49	31432											
GAD2	2572	hgsc.bcm.edu;ucsc.edu	37	10	26534856	26534856	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr10:26534856T>C	ENST00000376261.3	+	8	1350	c.847T>C	c.(847-849)Ttt>Ctt	p.F283L	GAD2_ENST00000259271.3_Missense_Mutation_p.F283L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	283					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACAGAGTCATTTTTCTCTCAA	0.388																																																0													80	77	78					10																	26534856		2203	4300	6503	SO:0001583	missense	2572			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.847T>C	10.37:g.26534856T>C	ENSP00000365437:p.Phe283Leu		Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527183	0.64860	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.37752	1.18;1.18	5.2	5.2	0.72013	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.69358	2.11	0.80722	D	1	B	0.27068	0.167	B	0.29524	0.103	T	0.39800	-0.9596	10	0.87932	D	0	-18.0347	14.0313	0.64617	0.0:0.0:0.0:1.0	.	283	Q05329	DCE2_HUMAN	L	283	ENSP00000365437:F283L;ENSP00000259271:F283L	ENSP00000259271:F283L	F	+	1	0	GAD2	26574862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.123000	0.71614	1.941000	0.56285	0.528000	0.53228	TTT		0.388	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		C	26534856	T	C	26534856	3	2	576	1	0	0	0	0	1	0	0	0	6182	1841	64	3	877	3	GAD2	10	26534856	Missense_Mutation	SNP	T	TCGA-CZ-4861-01A-01D-1373-10		26534856	108999891	50	31433											
C10orf35	219738	hgsc.bcm.edu;ucsc.edu	37	10	71391583	71391583	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr10:71391583C>G	ENST00000373279.4	+	3	243	c.84C>G	c.(82-84)agC>agG	p.S28R	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	28						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CAAGAGGTAGCATTCCTCGAC	0.572																																																0													149	113	125					10																	71391583		2203	4300	6503	SO:0001583	missense	219738			BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.84C>G	10.37:g.71391583C>G	ENSP00000362376:p.Ser28Arg			Missense_Mutation	SNP	ENST00000373279.4	37	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359459	0.61403	.	.	ENSG00000171224	ENST00000373279;ENST00000421716	.	.	.	5.25	2.35	0.29111	.	0.271434	0.31323	N	0.007849	T	0.14442	0.0349	N	0.03608	-0.345	0.09310	N	1	B	0.21905	0.062	B	0.22601	0.04	T	0.27806	-1.0063	9	0.15499	T	0.54	-1.7546	9.1332	0.36857	0.0:0.7494:0.0:0.2506	.	28	Q96D05	CJ035_HUMAN	R	28;70	.	ENSP00000362376:S28R	S	+	3	2	C10orf35	71061589	0.000000	0.05858	0.023000	0.16930	0.591000	0.36615	0.188000	0.17018	0.611000	0.30052	0.313000	0.20887	AGC		0.572	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	NM_145306		G	71391583	C	G	71391583	3	3	576	1	0	0	0	0	1	0	0	0	1605	709	25	4	86	4	C10orf35	10	71391583	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	44856727	71391583	64143164	51	31434											
CC2D2B	387707	hgsc.bcm.edu;ucsc.edu	37	10	97791691	97791691	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr10:97791691G>T	ENST00000344386.3	+	9	1059	c.895G>T	c.(895-897)Gta>Tta	p.V299L	RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.V378L|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	299										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TGCTTTAGCTGTATACATTCA	0.373																																																0													143	126	132					10																	97791691		1844	4099	5943	SO:0001583	missense	387707			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 130"	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.895G>T	10.37:g.97791691G>T	ENSP00000343747:p.Val299Leu		A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873284	0.91664	.	.	ENSG00000188649	ENST00000451649;ENST00000344386	T	0.71817	-0.6	6.04	6.04	0.98038	.	.	.	.	.	D	0.86096	0.5851	M	0.83774	2.66	0.47905	D	0.99954	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.86674	0.1912	9	0.72032	D	0.01	.	19.3663	0.94464	0.0:0.0:1.0:0.0	.	378;299	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	L	378;299	ENSP00000343747:V299L	ENSP00000343747:V299L	V	+	1	0	CC2D2B	97781681	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	9.405000	0.97313	2.873000	0.98535	0.563000	0.77884	GTA		0.373	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		T	97791691	G	T	97791691	3	4	576	1	0	0	0	0	1	0	0	0	2731	1377	48	4	1170	4	CC2D2B	10	97791691	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	26400108	97791691	37743056	52	31435											
DNHD1	144132	hgsc.bcm.edu	37	11	6567885	6567885	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:6567885A>C	ENST00000527990.2	+	19	5716	c.5716A>C	c.(5716-5718)Att>Ctt	p.I1906L	DNHD1_ENST00000254579.6_Missense_Mutation_p.I1906L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1906					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTAGCTGCCATTGAGGAGGC	0.567																																																0													55	47	49					11																	6567885		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.5716A>C	11.37:g.6567885A>C	ENSP00000436180:p.Ile1906Leu		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	2.922	-0.222999	0.06061	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.25250	1.81;1.81	4.96	-4.29	0.03721	.	1.638700	0.02715	N	0.113362	T	0.15825	0.0381	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14699	-1.0463	10	0.27082	T	0.32	.	3.7438	0.08540	0.3642:0.1153:0.408:0.1125	.	1906	Q96M86	DNHD1_HUMAN	L	1906;1906;197	ENSP00000254579:I1906L;ENSP00000436180:I1906L	ENSP00000254579:I1906L	I	+	1	0	DNHD1	6524461	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	-0.137000	0.10389	-0.691000	0.05135	-0.250000	0.11733	ATT		0.567	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		C	6567885	A	C	6567885	3	2	576	1	0	0	0	0	1	0	0	0	4670	217	8	5	5799	5	DNHD1	11	6567885	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10		6567885	128438631	53	31436	232	2									
DNHD1	144132	hgsc.bcm.edu	37	11	6567893	6567895	+	In_Frame_Del	DEL	GGC	GGC	-	rs74053417|rs74053416|rs11268490|rs11270441	byFrequency	TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:6567893_6567895delGGC	ENST00000527990.2	+	19	5724_5726	c.5724_5726delGGC	c.(5722-5727)gaggct>gat	p.1908_1909EA>D	DNHD1_ENST00000254579.6_In_Frame_Del_p.1908_1909EA>D			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1908				A -> AALLH (in Ref. 5; BAB85004 and 6; CAB70845). {ECO:0000305}.	microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCATTGAGGAGGCTGCCCTACTG	0.557																																																0																																										SO:0001651	inframe_deletion	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.5724_5726delGGC	11.37:g.6567893_6567895delGGC	ENSP00000436180:p.Glu1908_Ala1909delinsAsp		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	In_Frame_Del	DEL	ENST00000527990.2	37	CCDS44532.1																																																																																				0.557	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		-	6567895	GGC	-	6567893	7	5	576	1	0	1	0	1	0	0	0	0	4670	991	35	0	5807	0	DNHD1	11	6567893	In_Frame_Del	DEL	GGC	TCGA-CZ-4861-01A-01D-1373-10	8	6567893	128438623	54	31437	232	2									
OR5P2	120065	hgsc.bcm.edu	37	11	7818386	7818387	+	Frame_Shift_Ins	INS	-	-	T	rs201603694		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:7818386_7818387insT	ENST00000329434.2	-	1	133_134	c.103_104insA	c.(103-105)ctafs	p.L35fs	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATTACCAGATAGGATGATCATG	0.441																																																0																																										SO:0001589	frameshift_variant	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.103_104insA	11.37:g.7818386_7818387insT	ENSP00000331823:p.Leu35fs		Q3MIS8	Frame_Shift_Ins	INS	ENST00000329434.2	37	CCDS7782.1																																																																																				0.441	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		T	7818387	-	T	7818386	7	5	576	1	0	1	1	0	0	0	0	0	11180	420	15	0	868	0	OR5P2	11	7818386	Frame_Shift_Ins	INS	-	TCGA-CZ-4861-01A-01D-1373-10	1250493	7818386	127188130	55	31438											
TMX2	51075	hgsc.bcm.edu;ucsc.edu	37	11	57480238	57480238	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:57480238C>T	ENST00000278422.4	+	1	160	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	TMX2-CTNND1_ENST00000528395.1_Missense_Mutation_p.P50S|MED19_ENST00000337672.2_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.P50S|MED19_ENST00000431606.2_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	50					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CCACGGTCTGCCCACCCAACG	0.607																																																0													77	70	73					11																	57480238		2201	4296	6497	SO:0001583	missense	51075			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.148C>T	11.37:g.57480238C>T	ENSP00000278422:p.Pro50Ser		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528583	0.27299	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T	0.44881	0.91	5.98	5.98	0.97165	.	0.222665	0.38897	U	0.001527	T	0.31295	0.0792	N	0.21448	0.665	0.49299	D	0.99977	B;B	0.24882	0.113;0.03	B;B	0.24006	0.05;0.004	T	0.13469	-1.0508	10	0.07990	T	0.79	-5.4518	20.0512	0.97629	0.0:1.0:0.0:0.0	.	50;50	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	S	50	ENSP00000367562:P50S	ENSP00000436274:P50S	P	+	1	0	TMX2	57236814	1.000000	0.71417	0.993000	0.49108	0.213000	0.24496	2.671000	0.46842	2.847000	0.97988	0.591000	0.81541	CCC		0.607	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		T	57480238	C	T	57480238	3	4	576	1	0	0	0	0	1	0	0	0	16272	739	26	2	150	2	TMX2	11	57480238	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	49661852	57480238	77526278	56	31439											
ME3	10873	hgsc.bcm.edu;ucsc.edu	37	11	86198484	86198484	+	Splice_Site	SNP	T	T	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:86198484T>G	ENST00000393324.3	-	6	959		c.e6-2		ME3_ENST00000323418.6_Splice_Site|ME3_ENST00000543262.1_Splice_Site|ME3_ENST00000525957.1_Splice_Site|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Splice_Site	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial						aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				GAGCAGCTCCTGGAACAGACA	0.507																																																0													97	81	86					11																	86198484		2202	4299	6501	SO:0001630	splice_region_variant	10873			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.706-2A>C	11.37:g.86198484T>G			B7Z6V0|Q8TBJ0	Splice_Site	SNP	ENST00000393324.3	37	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353959	0.82243	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3172	0.66460	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ME3	85876132	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.635000	0.74295	2.016000	0.59253	0.482000	0.46254	.		0.507	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2		Intron	G	86198484	T	G	86198484	5	3	576	1	0	0	0	0	0	0	1	0	9421	1594	55	5	1146	5	ME3	11	86198484	Splice_Site	SNP	T	TCGA-CZ-4861-01A-01D-1373-10	28718246	86198484	48808032	57	31440											
CNTN5	53942	hgsc.bcm.edu;ucsc.edu	37	11	100211348	100211348	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:100211348A>G	ENST00000524871.1	+	22	3174	c.2884A>G	c.(2884-2886)Agc>Ggc	p.S962G	CNTN5_ENST00000418526.2_Missense_Mutation_p.S888G|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.S962G|CNTN5_ENST00000528682.1_Missense_Mutation_p.S962G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	962	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGGCCACCTAGCAGTGAAGT	0.438																																																0													79	76	77					11																	100211348		1906	4123	6029	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2884A>G	11.37:g.100211348A>G	ENSP00000435637:p.Ser962Gly		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253816	0.59212	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.12	5.12	0.69794	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.230192	0.50627	D	0.000104	T	0.78830	0.4345	M	0.87038	2.855	0.53688	D	0.999979	P;P	0.44429	0.802;0.835	B;P	0.46685	0.389;0.524	T	0.81970	-0.0689	9	.	.	.	.	14.1006	0.65051	1.0:0.0:0.0:0.0	.	888;962	O94779-2;O94779	.;CNTN5_HUMAN	G	962;962;888;962	ENSP00000436185:S962G;ENSP00000435637:S962G;ENSP00000393229:S888G;ENSP00000279463:S962G	.	S	+	1	0	CNTN5	99716558	1.000000	0.71417	0.929000	0.37066	0.884000	0.51177	6.474000	0.73578	1.926000	0.55796	0.533000	0.62120	AGC		0.438	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		G	100211348	A	G	100211348	3	3	576	1	0	0	0	0	1	0	0	0	3646	420	15	3	2962	3	CNTN5	11	100211348	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	14012864	100211348	34795168	58	31441											
ATM	472	hgsc.bcm.edu;ucsc.edu	37	11	108206594	108206594	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:108206594A>G	ENST00000452508.2	+	57	8363	c.8174A>G	c.(8173-8175)gAt>gGt	p.D2725G	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.D2725G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2725	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		D -> G (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9334731}.|D -> V (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.D2725V(2)|p.D2725G(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTGAGACAAGATGCTGTCATG	0.353			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)											108	99	102					11																	108206594		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8174A>G	11.37:g.108206594A>G	ENSP00000388058:p.Asp2725Gly		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.968135	0.92855	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.91068	-2.78;-2.78	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99184	1.0868	10	0.87932	D	0	.	15.7045	0.77565	1.0:0.0:0.0:0.0	.	2725	Q13315	ATM_HUMAN	G	2725	ENSP00000278616:D2725G;ENSP00000388058:D2725G	ENSP00000278616:D2725G	D	+	2	0	ATM	107711804	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.809000	0.91944	2.125000	0.65367	0.533000	0.62120	GAT		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		G	108206594	A	G	108206594	3	3	576	1	0	0	0	0	1	0	0	0	1109	333	12	3	8392	3	ATM	11	108206594	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	7995246	108206594	26799922	59	31442											
ABCG4	64137	hgsc.bcm.edu;ucsc.edu	37	11	119031336	119031336	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:119031336T>A	ENST00000449422.2	+	14	1873	c.1685T>A	c.(1684-1686)cTg>cAg	p.L562Q	ABCG4_ENST00000307417.3_Missense_Mutation_p.L562Q|ABCG4_ENST00000531739.1_Missense_Mutation_p.L562Q	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	562	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCACTTACCTGCAATGGAGC	0.582																																																0													220	208	212					11																	119031336		2200	4295	6495	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1685T>A	11.37:g.119031336T>A	ENSP00000406874:p.Leu562Gln		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.521706	0.85600	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.75589	-0.95;-0.95;-0.95	5.49	4.29	0.51040	ABC-2 type transporter (1);	0.071779	0.64402	D	0.000017	D	0.87970	0.6312	H	0.94462	3.54	0.53688	D	0.999979	D	0.59767	0.986	D	0.66351	0.943	D	0.90215	0.4267	10	0.87932	D	0	-4.2931	10.5783	0.45240	0.1444:0.0:0.0:0.8556	.	562	Q9H172	ABCG4_HUMAN	Q	562	ENSP00000304111:L562Q;ENSP00000406874:L562Q;ENSP00000434318:L562Q	ENSP00000304111:L562Q	L	+	2	0	ABCG4	118536546	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.188000	0.72045	2.105000	0.64084	0.456000	0.33151	CTG		0.582	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		A	119031336	T	A	119031336	3	1	576	1	0	0	0	0	1	0	0	0	70	1580	55	5	1735	5	ABCG4	11	119031336	Missense_Mutation	SNP	T	TCGA-CZ-4861-01A-01D-1373-10	10824742	119031336	15975180	60	31443											
TECTA	7007	hgsc.bcm.edu;ucsc.edu	37	11	121000530	121000530	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:121000530T>A	ENST00000392793.1	+	10	2822	c.2551T>A	c.(2551-2553)Ttc>Atc	p.F851I	TECTA_ENST00000264037.2_Missense_Mutation_p.F851I			O75443	TECTA_HUMAN	tectorin alpha	851	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTTGTGCGGCTTCTACAATGC	0.542																																																0													141	133	136					11																	121000530		2203	4299	6502	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2551T>A	11.37:g.121000530T>A	ENSP00000376543:p.Phe851Ile			Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.463516	0.26248	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.58652	0.32;0.32	5.56	5.56	0.83823	von Willebrand factor, type D domain (3);	0.060049	0.64402	D	0.000002	T	0.46889	0.1416	L	0.44542	1.39	0.33989	D	0.648957	B	0.31125	0.309	B	0.28232	0.087	T	0.57751	-0.7757	10	0.23302	T	0.38	.	11.6173	0.51096	0.0:0.0713:0.0:0.9287	.	851	O75443	TECTA_HUMAN	I	851	ENSP00000376543:F851I;ENSP00000264037:F851I	ENSP00000264037:F851I	F	+	1	0	TECTA	120505740	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.780000	0.55386	2.126000	0.65437	0.460000	0.39030	TTC		0.542	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		A	121000530	T	A	121000530	3	1	576	1	0	0	0	0	1	0	0	0	15752	1609	56	5	2585	5	TECTA	11	121000530	Missense_Mutation	SNP	T	TCGA-CZ-4861-01A-01D-1373-10	1969194	121000530	14005986	61	31444											
WNK1	65125	hgsc.bcm.edu;ucsc.edu	37	12	1005370	1005370	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr12:1005370A>T	ENST00000315939.6	+	24	6360	c.5717A>T	c.(5716-5718)aAa>aTa	p.K1906I	WNK1_ENST00000537687.1_Missense_Mutation_p.K2166I|WNK1_ENST00000530271.2_Missense_Mutation_p.K2404I|WNK1_ENST00000535572.1_Missense_Mutation_p.K1658I|WNK1_ENST00000340908.4_Missense_Mutation_p.K1499I	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1906					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCTTGGTGAAACCAGAGCCG	0.473																																					Colon(19;451 567 6672 12618 28860)											0													87	84	85					12																	1005370		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5717A>T	12.37:g.1005370A>T	ENSP00000313059:p.Lys1906Ile		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.105491	0.37145	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.77358	-1.09;-1.04;-1.03;-1.06;0.29	5.91	4.75	0.60458	.	0.080321	0.53938	D	0.000060	D	0.83894	0.5353	M	0.61703	1.905	0.38708	D	0.953144	D;D;D	0.61080	0.979;0.989;0.981	P;P;P	0.61201	0.839;0.885;0.694	D	0.85860	0.1409	10	0.66056	D	0.02	-4.2658	12.2249	0.54455	0.9332:0.0:0.0668:0.0	.	1659;1658;1906	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	I	1658;1906;2166;1079;2404;1499	ENSP00000441972:K1658I;ENSP00000313059:K1906I;ENSP00000444465:K2166I;ENSP00000433548:K2404I;ENSP00000341292:K1499I	ENSP00000252477:K1079I	K	+	2	0	WNK1	875631	1.000000	0.71417	0.998000	0.56505	0.163000	0.22366	5.119000	0.64679	1.038000	0.40049	0.528000	0.53228	AAA		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		T	1005370	A	T	1005370	3	4	576	1	0	0	0	0	1	0	0	0	17382	14	1	5	7313	5	WNK1	12	1005370	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10		1005370	132846525	62	31445											
C12orf41	54934	hgsc.bcm.edu;ucsc.edu	37	12	49063049	49063049	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr12:49063049C>T	ENST00000420613.2	-	6	763	c.716G>A	c.(715-717)aGt>aAt	p.S239N	KANSL2_ENST00000550347.1_Missense_Mutation_p.S422N|SNORA2B_ENST00000384583.1_RNA|KANSL2_ENST00000357861.3_Missense_Mutation_p.S44N|KANSL2_ENST00000553086.1_Missense_Mutation_p.S239N	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	239					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											AGTCAGGAGACTACTGCCTAG	0.463																																																0													46	42	43					12																	49063049		1890	4118	6008	SO:0001583	missense	0			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.716G>A	12.37:g.49063049C>T	ENSP00000415436:p.Ser239Asn		Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620967	0.87460	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000357861	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	L	0.58101	1.795	0.58432	D	0.999999	D;D;D	0.89917	0.985;0.98;1.0	P;P;D	0.71870	0.79;0.578;0.975	T	0.62025	-0.6941	10	0.56958	D	0.05	.	18.2601	0.90033	0.0:1.0:0.0:0.0	.	422;239;44	F8VX10;Q9H9L4;Q9H9L4-2	.;CL041_HUMAN;.	N	422;239;239;44	ENSP00000449747:S422N;ENSP00000415436:S239N;ENSP00000448833:S239N;ENSP00000350527:S44N	ENSP00000350527:S44N	S	-	2	0	C12orf41	47349316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.779000	0.75057	2.593000	0.87608	0.561000	0.74099	AGT		0.463	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		T	49063049	C	T	49063049	3	4	576	1	0	0	0	0	1	0	0	0	1689	565	20	2	782	2	C12orf41	12	49063049	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	48057679	49063049	84788846	63	31446											
SART3	9733	hgsc.bcm.edu;ucsc.edu	37	12	108931344	108931344	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr12:108931344C>T	ENST00000228284.3	-	9	1463	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	SART3_ENST00000431469.2_Intron	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	410					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTGGATGAAGCCGGCATTCAA	0.398									Porokeratosis																																							0													87	80	82					12																	108931344		2203	4300	6503	SO:0001583	missense	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1229G>A	12.37:g.108931344C>T	ENSP00000228284:p.Gly410Asp		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309269	0.95629	.	.	ENSG00000075856	ENST00000228284;ENST00000412617;ENST00000546815	T;T	0.61040	2.18;0.14	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.76405	-0.2971	10	0.35671	T	0.21	-30.2674	20.3343	0.98733	0.0:1.0:0.0:0.0	.	358;428;410	E7EMI4;F8VV04;Q15020	.;.;SART3_HUMAN	D	410;358;428	ENSP00000228284:G410D;ENSP00000449386:G428D	ENSP00000228284:G410D	G	-	2	0	SART3	107455474	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.487000	0.81328	2.822000	0.97130	0.650000	0.86243	GGC		0.398	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			T	108931344	C	T	108931344	3	4	576	1	0	0	0	0	1	0	0	0	13853	739	26	2	1706	2	SART3	12	108931344	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	59868295	108931344	24920551	64	31447											
SELPLG	6404	hgsc.bcm.edu;ucsc.edu	37	12	109017991	109017991	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr12:109017991G>A	ENST00000550948.1	-	2	317	c.93C>T	c.(91-93)gcC>gcT	p.A31A	SELPLG_ENST00000388962.3_Silent_p.A31A|SELPLG_ENST00000228463.6_Silent_p.A47A			Q14242	SELPL_HUMAN	selectin P ligand	31				Missing (in Ref. 3; BAC05283). {ECO:0000305}.	blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GGGGACCCAAGGCTTTCTCGG	0.572																																																0													65	66	66					12																	109017991		2203	4300	6503	SO:0001819	synonymous_variant	6404				CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.93C>T	12.37:g.109017991G>A			A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Silent	SNP	ENST00000550948.1	37	CCDS31895.2																																																																																				0.572	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			A	109017991	G	A	109017991	2	1	576	1	0	0	0	0	0	0	0	1	14026	987	35	2		2	SELPLG	12	109017991	Silent	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	86647	109017991	24833904	65	31448											
RNF219	79596	hgsc.bcm.edu;ucsc.edu	37	13	79190197	79190197	+	Silent	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr13:79190197A>G	ENST00000282003.6	-	6	1757	c.1699T>C	c.(1699-1701)Tta>Cta	p.L567L	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	567	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GACTTTGATAACCCATCCAAA	0.383																																																0													121	124	123					13																	79190197		2203	4300	6503	SO:0001819	synonymous_variant	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1699T>C	13.37:g.79190197A>G			B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	ENST00000282003.6	37	CCDS31997.1																																																																																				0.383	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		G	79190197	A	G	79190197	2	3	576	1	0	0	0	0	0	0	0	1	13488	40	2	3		3	RNF219	13	79190197	Silent	SNP	A	TCGA-CZ-4861-01A-01D-1373-10		79190197	35979681	66	31449											
SLITRK1	114798	hgsc.bcm.edu	37	13	84454708	84454708	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr13:84454708G>A	ENST00000377084.2	-	1	1820	c.935C>T	c.(934-936)cCa>cTa	p.P312L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	312					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)		CCAGTTGCCTGGGATCTTTGT	0.552																																																0													77	75	76					13																	84454708		2203	4300	6503	SO:0001583	missense	114798			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.935C>T	13.37:g.84454708G>A	ENSP00000366288:p.Pro312Leu		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284096	0.23392	.	.	ENSG00000178235	ENST00000377084	T	0.60040	0.22	4.85	4.85	0.62838	.	0.057586	0.64402	D	0.000001	T	0.55545	0.1927	L	0.43923	1.385	0.58432	D	0.999999	B	0.27416	0.178	B	0.35770	0.21	T	0.54111	-0.8342	10	0.37606	T	0.19	-5.4445	16.699	0.85343	0.0:0.0:1.0:0.0	.	312	Q96PX8	SLIK1_HUMAN	L	312	ENSP00000366288:P312L	ENSP00000366288:P312L	P	-	2	0	SLITRK1	83352709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.632000	0.74281	2.525000	0.85131	0.555000	0.69702	CCA		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		A	84454708	G	A	84454708	3	1	576	1	0	0	0	0	1	0	0	0	14748	1348	47	2	1159	2	SLITRK1	13	84454708	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	5264511	84454708	30715170	67	31450											
ARID4A	5926	hgsc.bcm.edu;ucsc.edu	37	14	58831047	58831047	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr14:58831047A>G	ENST00000355431.3	+	20	2613	c.2240A>G	c.(2239-2241)aAt>aGt	p.N747S	ARID4A_ENST00000431317.2_Missense_Mutation_p.N747S|ARID4A_ENST00000348476.3_Missense_Mutation_p.N747S|ARID4A_ENST00000395168.3_Missense_Mutation_p.N747S	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	747					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTAAAAGAAAATGATAGGACT	0.299																																																0													49	60	56					14																	58831047		2185	4287	6472	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2240A>G	14.37:g.58831047A>G	ENSP00000347602:p.Asn747Ser		Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	2.778	-0.254238	0.05829	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.15139	2.53;2.52;2.52;2.52;2.45	5.8	2.05	0.26809	.	0.527040	0.21280	N	0.077176	T	0.11836	0.0288	L	0.27053	0.805	0.09310	N	1	P;P;P	0.49447	0.792;0.924;0.792	P;P;P	0.46796	0.496;0.527;0.496	T	0.14227	-1.0480	10	0.08837	T	0.75	-8.0243	7.9833	0.30196	0.5286:0.4024:0.069:0.0	.	747;747;747	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	S	747;747;747;747;425	ENSP00000347602:N747S;ENSP00000344556:N747S;ENSP00000378597:N747S;ENSP00000397368:N747S;ENSP00000416053:N425S	ENSP00000344556:N747S	N	+	2	0	ARID4A	57900800	0.939000	0.31865	0.361000	0.25849	0.160000	0.22226	1.737000	0.38197	0.407000	0.25591	0.528000	0.53228	AAT		0.299	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		G	58831047	A	G	58831047	3	3	576	1	0	0	0	0	1	0	0	0	919	101	4	3	2314	3	ARID4A	14	58831047	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10		58831047	48518493	68	31451											
SIPA1L1	26037	hgsc.bcm.edu;ucsc.edu	37	14	72169179	72169179	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr14:72169179G>A	ENST00000555818.1	+	12	3951	c.3603G>A	c.(3601-3603)acG>acA	p.T1201T	SIPA1L1_ENST00000381232.3_Silent_p.T1201T|SIPA1L1_ENST00000358550.2_Silent_p.T1201T|SIPA1L1_ENST00000537413.1_Silent_p.T676T|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1201					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAAATCCACGCCTAGCTGGC	0.478																																																0													118	101	106					14																	72169179		2203	4300	6503	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3603G>A	14.37:g.72169179G>A			J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		A	72169179	G	A	72169179	2	1	576	1	0	0	0	0	0	0	0	1	14335	1074	38	1		1	SIPA1L1	14	72169179	Silent	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	13338132	72169179	35180361	69	31452											
GOLGA5	9950	hgsc.bcm.edu	37	14	93276655	93276655	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr14:93276655T>C	ENST00000163416.2	+	5	1305	c.1049T>C	c.(1048-1050)tTt>tCt	p.F350S	GOLGA5_ENST00000355976.2_Missense_Mutation_p.F350S	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	350				F -> L (in Ref. 1; AAD09753, 2; AAV85456, 4; EAW81502, 5; AAH23021, 6; CAA33787 and 8; CAB36967). {ECO:0000305}.	Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CTGCAGACTTTTCAGGAGAGA	0.423			T	RET	papillary thyroid																																		Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	0													70	76	74					14																	93276655		2203	4300	6503	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1049T>C	14.37:g.93276655T>C	ENSP00000163416:p.Phe350Ser		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.270769	0.59540	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.44083	0.93;0.93	5.63	4.49	0.54785	.	0.000000	0.43747	D	0.000526	T	0.22975	0.0555	N	0.08118	0	0.09310	N	0.99999	B	0.14805	0.011	B	0.06405	0.002	T	0.13629	-1.0502	10	0.31617	T	0.26	-8.1937	11.5339	0.50626	0.0:0.0699:0.0:0.9301	.	350	Q8TBA6	GOGA5_HUMAN	S	350;350;259	ENSP00000163416:F350S;ENSP00000348252:F350S	ENSP00000163416:F350S	F	+	2	0	GOLGA5	92346408	1.000000	0.71417	0.782000	0.31804	0.934000	0.57294	7.560000	0.82277	1.082000	0.41137	0.482000	0.46254	TTT		0.423	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			C	93276655	T	C	93276655	3	2	576	1	0	0	0	0	1	0	0	0	6558	1841	64	3	1063	3	GOLGA5	14	93276655	Missense_Mutation	SNP	T	TCGA-CZ-4861-01A-01D-1373-10	21107476	93276655	14072885	70	31453											
PLCB2	5330	hgsc.bcm.edu;ucsc.edu	37	15	40591379	40591379	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr15:40591379G>T	ENST00000260402.3	-	8	882	c.633C>A	c.(631-633)ttC>ttA	p.F211L	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.F211L|PLCB2_ENST00000456256.2_Missense_Mutation_p.F211L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	211					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCTCATGAGGAAACTCTTGT	0.488																																																0													126	132	130					15																	40591379		1966	4131	6097	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.633C>A	15.37:g.40591379G>T	ENSP00000260402:p.Phe211Leu		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523118	0.27211	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.47177	0.85;0.85	5.51	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.33137	0.985	0.80722	D	1	P;B;P	0.45957	0.869;0.266;0.542	B;P;B	0.51866	0.311;0.682;0.251	T	0.21109	-1.0255	10	0.21014	T	0.42	.	12.3199	0.54979	0.1394:0.0:0.8606:0.0	.	211;211;211	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	L	211	ENSP00000260402:F211L;ENSP00000411991:F211L	ENSP00000260402:F211L	F	-	3	2	PLCB2	38378671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.278000	0.33179	1.320000	0.45209	0.655000	0.94253	TTC		0.488	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			T	40591379	G	T	40591379	3	4	576	1	0	0	0	0	1	0	0	0	12030	1165	41	4	3024	4	PLCB2	15	40591379	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10		40591379	61940013	71	31454											
DMXL2	23312	hgsc.bcm.edu;ucsc.edu	37	15	51790800	51790800	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr15:51790800C>A	ENST00000251076.5	-	18	4908	c.4621G>T	c.(4621-4623)Gtg>Ttg	p.V1541L	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.V1541L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1541						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTAGTAGCCACTGTATCAGCC	0.393																																																0													86	81	83					15																	51790800		2195	4293	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4621G>T	15.37:g.51790800C>A	ENSP00000251076:p.Val1541Leu		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814371	0.70912	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.55930	0.49;0.49	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	L	0.35593	1.075	0.80722	D	1	B;D	0.71674	0.222;0.998	B;D	0.80764	0.059;0.994	T	0.62793	-0.6779	10	0.44086	T	0.13	.	19.8949	0.96954	0.0:1.0:0.0:0.0	.	1541;1541	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	L	1541	ENSP00000251076:V1541L;ENSP00000441858:V1541L	ENSP00000251076:V1541L	V	-	1	0	DMXL2	49578092	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.739000	0.68622	2.712000	0.92718	0.484000	0.47621	GTG		0.393	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		A	51790800	C	A	51790800	3	1	576	1	0	0	0	0	1	0	0	0	4597	565	20	4	4596	4	DMXL2	15	51790800	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	11199421	51790800	50740592	72	31455											
NEDD4	4734	hgsc.bcm.edu	37	15	56126438	56126438	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr15:56126438T>G	ENST00000508342.1	-	21	3865	c.3566A>C	c.(3565-3567)gAa>gCa	p.E1189A	NEDD4_ENST00000506154.1_Missense_Mutation_p.E1173A|NEDD4_ENST00000435532.3_Missense_Mutation_p.E770A|NEDD4_ENST00000338963.2_Missense_Mutation_p.E1117A	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1189	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAGTTCATTTTCATCAAAAAT	0.313																																																0													61	62	62					15																	56126438		2193	4291	6484	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3566A>C	15.37:g.56126438T>G	ENSP00000424827:p.Glu1189Ala		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.3|22.3	4.266011|4.266011	0.80358|0.80358	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98|.	5.53|5.53	5.53|5.53	0.82687|0.82687	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58032|0.58032	0.2094|0.2094	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	D;D;P;P|.	0.89917|.	1.0;0.963;0.686;0.495|.	D;P;D;P|.	0.91635|.	0.999;0.884;0.932;0.809|.	T|T	0.54931|0.54931	-0.8219|-0.8219	10|5	0.56958|.	D|.	0.05|.	.|.	14.8727|14.8727	0.70471|0.70471	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1173;770;1189;1117|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	A|Q	1189;770;1117;1173|780	ENSP00000424827:E1189A;ENSP00000410613:E770A;ENSP00000345530:E1117A;ENSP00000422705:E1173A|.	ENSP00000345530:E1117A|.	E|K	-|-	2|1	0|0	NEDD4|NEDD4	53913730|53913730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.175000|6.175000	0.71949|0.71949	2.107000|2.107000	0.64212|0.64212	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.313	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		G	56126438	T	G	56126438	3	3	576	1	0	0	0	0	1	0	0	0	10312	1783	62	5	413	5	NEDD4	15	56126438	Missense_Mutation	SNP	T	TCGA-CZ-4861-01A-01D-1373-10	4335638	56126438	46404954	73	31456											
LIPC	3990	hgsc.bcm.edu;ucsc.edu	37	15	58838059	58838059	+	Silent	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr15:58838059C>T	ENST00000356113.6	+	7	1308	c.693C>T	c.(691-693)agC>agT	p.S231S	LIPC_ENST00000433326.2_Silent_p.S170S|LIPC_ENST00000414170.3_Silent_p.S231S|LIPC_ENST00000299022.5_Silent_p.S231S			P11150	LIPC_HUMAN	lipase, hepatic	231					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TGGGCCTGAGCGTGGGCATCA	0.532																																																0													109	104	106					15																	58838059		2192	4292	6484	SO:0001819	synonymous_variant	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.693C>T	15.37:g.58838059C>T			A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	CCDS10166.1																																																																																				0.532	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			T	58838059	C	T	58838059	2	4	576	1	0	0	0	0	0	0	0	1	8822	767	27	1		1	LIPC	15	58838059	Silent	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	2711621	58838059	43693333	74	31457											
APH1B	83464	hgsc.bcm.edu	37	15	63571478	63571478	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr15:63571478G>T	ENST00000261879.5	+	2	302	c.232G>T	c.(232-234)Gtc>Ttc	p.V78F	APH1B_ENST00000380343.4_Missense_Mutation_p.V78F	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	78					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						TGGAGCGTTTGTCTCTGTCTA	0.363																																																0													139	136	137					15																	63571478		2203	4300	6503	SO:0001583	missense	83464			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"anterior pharynx defective 1 homolog B (C. elegans)"			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.232G>T	15.37:g.63571478G>T	ENSP00000261879:p.Val78Phe		A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	ENST00000261879.5	37	CCDS10184.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.005907	0.00426	.	.	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.45668	0.89;0.89	4.89	-2.71	0.05986	.	0.739971	0.12350	N	0.476690	T	0.13072	0.0317	N	0.04508	-0.205	0.30151	N	0.803042	B;B	0.13145	0.007;0.002	B;B	0.14578	0.008;0.011	T	0.39099	-0.9630	10	0.02654	T	1	-0.6714	4.337	0.11090	0.0998:0.3195:0.4432:0.1375	.	78;78	Q564N3;Q8WW43	.;APH1B_HUMAN	F	78	ENSP00000369700:V78F;ENSP00000261879:V78F	ENSP00000261879:V78F	V	+	1	0	APH1B	61358531	0.040000	0.19996	0.010000	0.14722	0.010000	0.07245	0.084000	0.14891	-0.135000	0.11495	0.563000	0.77884	GTC		0.363	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301		T	63571478	G	T	63571478	3	4	576	1	0	0	0	0	1	0	0	0	772	1377	48	4	238	4	APH1B	15	63571478	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	4733419	63571478	38959914	75	31458											
DNAH3	55567	hgsc.bcm.edu;ucsc.edu	37	16	21065766	21065766	+	Silent	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr16:21065766C>T	ENST00000261383.3	-	28	4013	c.4014G>A	c.(4012-4014)ggG>ggA	p.G1338G	DNAH3_ENST00000415178.1_Silent_p.G1338G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1338	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.G1338G(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGTGAGGGCCCCGAGAGTGA	0.547																																																2	Substitution - coding silent(2)	lung(2)											78	65	69					16																	21065766		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4014G>A	16.37:g.21065766C>T			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		T	21065766	C	T	21065766	2	4	576	1	0	0	0	0	0	0	0	1	4605	610	22	2		2	DNAH3	16	21065766	Silent	SNP	C	TCGA-CZ-4861-01A-01D-1373-10		21065766	69288987	76	31459											
CES2	8824	hgsc.bcm.edu;ucsc.edu	37	16	66972074	66972074	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr16:66972074C>A	ENST00000317091.4	+	2	1387	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	CES2_ENST00000417689.1_Missense_Mutation_p.L135M	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	71					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	TCTAGGTCCGCTGCGATTTGC	0.607																																					Ovarian(70;1230 1691 37888 38351)											0													95	88	90					16																	66972074		2200	4300	6500	SO:0001583	missense	8824			BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"Carboxylesterases"	1864	protein-coding gene	gene with protein product		605278	"carboxylesterase 2 (intestine, liver)"			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.403C>A	16.37:g.66972074C>A	ENSP00000317842:p.Leu135Met		A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251787	0.59212	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.74002	-0.8;-0.8	5.49	2.52	0.30459	Carboxylesterase, type B (1);	0.000000	0.41500	D	0.000874	D	0.87313	0.6146	M	0.93197	3.39	0.31371	N	0.680164	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.85688	0.1305	10	0.87932	D	0	.	8.0331	0.30476	0.0:0.6871:0.0:0.3129	.	71;135	O00748;A8K367	EST2_HUMAN;.	M	135	ENSP00000394452:L135M;ENSP00000317842:L135M	ENSP00000317842:L135M	L	+	1	2	CES2	65529575	0.005000	0.15991	0.064000	0.19789	0.492000	0.33523	0.124000	0.15728	0.457000	0.26962	0.650000	0.86243	CTG		0.607	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		A	66972074	C	A	66972074	3	1	576	1	0	0	0	0	1	0	0	0	3272	796	28	4	409	4	CES2	16	66972074	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	45906308	66972074	23382679	77	31460											
ADAMTS18	170692	hgsc.bcm.edu;ucsc.edu	37	16	77465292	77465292	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr16:77465292G>T	ENST00000282849.5	-	3	813	c.395C>A	c.(394-396)gCt>gAt	p.A132D	RP11-449J10.1_ENST00000564358.1_RNA|ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	132					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTCTCTGAAGCACCATCTTT	0.473																																																0													109	108	109					16																	77465292		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.395C>A	16.37:g.77465292G>T	ENSP00000282849:p.Ala132Asp		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342858	0.24339	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.05996	3.36;3.36	5.93	3.75	0.43078	Peptidase M12B, propeptide (1);	0.268737	0.36893	N	0.002354	T	0.06142	0.0159	L	0.32530	0.975	0.28819	N	0.897824	P	0.37688	0.605	P	0.44422	0.449	T	0.21042	-1.0257	10	0.12430	T	0.62	.	6.877	0.24153	0.1198:0.1853:0.6949:0.0	.	132	Q8TE60	ATS18_HUMAN	D	132	ENSP00000282849:A132D;ENSP00000392540:A132D	ENSP00000282849:A132D	A	-	2	0	ADAMTS18	76022793	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.826000	0.55738	2.814000	0.96858	0.591000	0.81541	GCT		0.473	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			T	77465292	G	T	77465292	3	4	576	1	0	0	0	0	1	0	0	0	263	971	34	4	3354	4	ADAMTS18	16	77465292	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	10493218	77465292	12889461	78	31461											
FANCA	2175	hgsc.bcm.edu;ucsc.edu	37	16	89807257	89807257	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr16:89807257G>T	ENST00000389301.3	-	38	3813	c.3783C>A	c.(3781-3783)ttC>ttA	p.F1261L	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.F1261L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1261					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGAGAAGAAGAAAAGGAAAA	0.433			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0													85	79	81					16																	89807257		2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3783C>A	16.37:g.89807257G>T	ENSP00000373952:p.Phe1261Leu		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	8.245	0.807787	0.16467	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.83335	-1.71	5.21	-4.63	0.03359	.	0.194961	0.35936	N	0.002883	T	0.66548	0.2800	L	0.38531	1.155	0.49213	D	0.999765	B;B;B	0.30281	0.275;0.031;0.031	B;B;B	0.29785	0.107;0.038;0.022	T	0.44636	-0.9315	10	0.21540	T	0.41	-11.5383	6.6834	0.23132	0.1142:0.1107:0.6746:0.1006	.	238;1261;1261	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	L	1261;238	ENSP00000373952:F1261L	ENSP00000306281:F238L	F	-	3	2	FANCA	88334758	0.416000	0.25424	0.033000	0.17914	0.880000	0.50808	-0.675000	0.05227	-1.140000	0.02877	-0.367000	0.07326	TTC		0.433	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			T	89807257	G	T	89807257	3	4	576	1	0	0	0	0	1	0	0	0	5664	933	33	4	608	4	FANCA	16	89807257	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	12341965	89807257	547496	79	31462											
USP6	9098	hgsc.bcm.edu	37	17	5066236	5066236	+	Silent	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr17:5066236C>A	ENST00000574788.1	+	33	5203	c.2973C>A	c.(2971-2973)gcC>gcA	p.A991A	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Silent_p.A674A|USP6_ENST00000250066.6_Silent_p.A991A			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	991	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTGGAAATGCCTATATTGCTG	0.428			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													167	170	169					17																	5066236		2203	4300	6503	SO:0001819	synonymous_variant	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2973C>A	17.37:g.5066236C>A			Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	CCDS11069.2																																																																																				0.428	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		A	5066236	C	A	5066236	2	1	576	1	0	0	0	0	0	0	0	1	17091	668	24	4		4	USP6	17	5066236	Silent	SNP	C	TCGA-CZ-4861-01A-01D-1373-10		5066236	76128974	80	31463											
DNAH2	146754	hgsc.bcm.edu;ucsc.edu	37	17	7671377	7671377	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr17:7671377A>G	ENST00000572933.1	+	23	5295	c.3835A>G	c.(3835-3837)Aag>Gag	p.K1279E	DNAH2_ENST00000389173.2_Missense_Mutation_p.K1279E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1279	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAAAGAGTATAAGGTGGGGAG	0.582																																																0													53	58	56					17																	7671377		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3835A>G	17.37:g.7671377A>G	ENSP00000458355:p.Lys1279Glu		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659289	0.88154	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.62105	0.05	4.27	4.27	0.50696	Dynein heavy chain, domain-2 (1);	0.125790	0.51477	D	0.000081	T	0.67906	0.2943	M	0.67625	2.065	0.80722	D	1	B	0.33379	0.41	P	0.44647	0.456	T	0.69687	-0.5078	10	0.49607	T	0.09	.	12.3787	0.55295	1.0:0.0:0.0:0.0	.	1279	Q9P225	DYH2_HUMAN	E	1279	ENSP00000373825:K1279E	ENSP00000353818:K1279E	K	+	1	0	DNAH2	7612102	1.000000	0.71417	0.870000	0.34147	0.921000	0.55340	5.363000	0.66104	1.571000	0.49722	0.402000	0.26972	AAG		0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		G	7671377	A	G	7671377	3	3	576	1	0	0	0	0	1	0	0	0	4604	363	13	3	3921	3	DNAH2	17	7671377	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	2605141	7671377	73523833	81	31464											
TOP3A	7156	hgsc.bcm.edu;ucsc.edu	37	17	18205997	18205997	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr17:18205997C>A	ENST00000321105.5	-	6	754	c.540G>T	c.(538-540)gaG>gaT	p.E180D	TOP3A_ENST00000542570.1_Missense_Mutation_p.E85D	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	180					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGGGTGTGATCTCAGAGAATC	0.532																																																0													100	83	89					17																	18205997		2203	4300	6503	SO:0001583	missense	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.540G>T	17.37:g.18205997C>A	ENSP00000321636:p.Glu180Asp		A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.59|15.59	2.877318|2.877318	0.51801|0.51801	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000412083|ENST00000321105;ENST00000542570	.|T;T	.|0.25085	.|1.82;2.85	6.07|6.07	4.92|4.92	0.64577|0.64577	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, domain 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53449|0.53449	0.1797|0.1797	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.75484	.|0.98;0.986	T|T	0.55418|0.55418	-0.8144|-0.8144	5|10	.|0.59425	.|D	.|0.04	-40.2069|-40.2069	16.2658|16.2658	0.82579|0.82579	0.0:0.927:0.0:0.073|0.0:0.927:0.0:0.073	.|.	.|85;180	.|B4DK80;Q13472	.|.;TOP3A_HUMAN	Y|D	160|180;85	.|ENSP00000321636:E180D;ENSP00000442336:E85D	.|ENSP00000321636:E180D	D|E	-|-	1|3	0|2	TOP3A|TOP3A	18146722|18146722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	4.811000|4.811000	0.62606|0.62606	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.532	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			A	18205997	C	A	18205997	3	1	576	1	0	0	0	0	1	0	0	0	16372	912	32	4	2521	4	TOP3A	17	18205997	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	10534620	18205997	62989213	82	31465											
EZH1	2145	hgsc.bcm.edu;ucsc.edu	37	17	40857163	40857163	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr17:40857163G>A	ENST00000428826.2	-	17	1999	c.1878C>T	c.(1876-1878)ggC>ggT	p.G626G	EZH1_ENST00000435174.1_Silent_p.G487G|EZH1_ENST00000585893.1_Silent_p.G586G|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000592743.1_Silent_p.G626G|EZH1_ENST00000415827.2_Silent_p.G617G|EZH1_ENST00000590078.1_Silent_p.G556G			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	626	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTATGAAGGTGCCCCATCCGG	0.552																																																0													71	68	69					17																	40857163		2203	4300	6503	SO:0001819	synonymous_variant	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1878C>T	17.37:g.40857163G>A			A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	ENST00000428826.2	37	CCDS32659.1																																																																																				0.552	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		A	40857163	G	A	40857163	2	1	576	1	0	0	0	0	0	0	0	1	5335	1306	46	2		2	EZH1	17	40857163	Silent	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	22651166	40857163	40338047	83	31466											
ZCCHC2	54877	hgsc.bcm.edu;ucsc.edu	37	18	60242638	60242638	+	Silent	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr18:60242638T>C	ENST00000269499.5	+	13	3742	c.3324T>C	c.(3322-3324)taT>taC	p.Y1108Y	ZCCHC2_ENST00000586834.1_Silent_p.Y787Y	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1108						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGAGATTCTATCCTGTATATC	0.498																																																0													109	108	109					18																	60242638		1991	4158	6149	SO:0001819	synonymous_variant	54877			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3324T>C	18.37:g.60242638T>C			B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	CCDS45880.1																																																																																				0.498	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		C	60242638	T	C	60242638	2	2	576	1	0	0	0	0	0	0	0	1	17592	1442	50	3		3	ZCCHC2	18	60242638	Silent	SNP	T	TCGA-CZ-4861-01A-01D-1373-10		60242638	17834610	84	31467											
CDH19	28513	hgsc.bcm.edu;ucsc.edu	37	18	64172301	64172301	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr18:64172301G>A	ENST00000262150.2	-	12	2359	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CACTGTCGGGGCCAACTTGCA	0.498																																																0													155	149	151					18																	64172301		2203	4300	6503	SO:0001819	synonymous_variant	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2067C>T	18.37:g.64172301G>A			O15098	Silent	SNP	ENST00000262150.2	37	CCDS11994.1																																																																																				0.498	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		A	64172301	G	A	64172301	2	1	576	1	0	0	0	0	0	0	0	1	3106	1190	42	2		2	CDH19	18	64172301	Silent	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	3929663	64172301	13904947	85	31468											
SMARCA4	6597	hgsc.bcm.edu	37	19	11145751	11145751	+	Silent	SNP	C	C	A	rs143621108		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr19:11145751C>A	ENST00000429416.3	+	30	4394	c.4113C>A	c.(4111-4113)tcC>tcA	p.S1371S	SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000541122.2_Silent_p.S1338S|SMARCA4_ENST00000444061.3_Silent_p.S1338S|SMARCA4_ENST00000358026.2_Silent_p.S1371S|SMARCA4_ENST00000413806.3_Silent_p.S1338S|SMARCA4_ENST00000344626.4_Silent_p.S1371S|SMARCA4_ENST00000589677.1_Silent_p.S1338S|SMARCA4_ENST00000590574.1_Silent_p.S1338S|SMARCA4_ENST00000450717.3_Silent_p.S1338S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1371					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S1371S(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCGTGGCTCCCGCCACCGCA	0.647			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	2	Unknown(1)|Substitution - coding silent(1)	lung(1)|skin(1)											44	36	39					19																	11145751		2203	4298	6501	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4113C>A	19.37:g.11145751C>A			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	c	10.51	1.370811	0.24771	.	.	ENSG00000127616	ENST00000538456	.	.	.	4.59	2.41	0.29592	.	.	.	.	.	T	0.46756	0.1409	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29822	-0.9999	4	.	.	.	-32.9733	4.0242	0.09680	0.165:0.5812:0.1604:0.0934	.	.	.	.	T	108	.	.	P	+	1	0	SMARCA4	11006751	0.089000	0.21612	1.000000	0.80357	0.990000	0.78478	-0.568000	0.05909	0.511000	0.28236	0.558000	0.71614	CCG		0.647	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		A	11145751	C	A	11145751	2	1	576	1	0	0	0	0	0	0	0	1	14776	610	22	4		4	SMARCA4	19	11145751	Silent	SNP	C	TCGA-CZ-4861-01A-01D-1373-10		11145751	47983232	86	31469											
ZNF441	126068	hgsc.bcm.edu;ucsc.edu	37	19	11892094	11892094	+	Silent	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr19:11892094T>C	ENST00000357901.4	+	4	1557	c.1455T>C	c.(1453-1455)tcT>tcC	p.S485S	ZNF441_ENST00000454339.2_Silent_p.S418S	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGCACTTTCTCATCTGAAAA	0.408																																																0													82	82	82					19																	11892094		2203	4300	6503	SO:0001819	synonymous_variant	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1455T>C	19.37:g.11892094T>C				Silent	SNP	ENST00000357901.4	37	CCDS12266.2																																																																																				0.408	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		C	11892094	T	C	11892094	2	2	576	1	0	0	0	0	0	0	0	1	17919	1538	54	3		3	ZNF441	19	11892094	Silent	SNP	T	TCGA-CZ-4861-01A-01D-1373-10	746343	11892094	47236889	87	31470											
CACNA1A	773	hgsc.bcm.edu;ucsc.edu	37	19	13419273	13419273	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr19:13419273C>T	ENST00000360228.5	-	13	1737	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V581M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	581					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCGTAACACGCTGATTCCA	0.502																																																0			GRCh37	CM086792	CACNA1A	M							70	65	66					19																	13419273		2011	4192	6203	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1738G>A	19.37:g.13419273C>T	ENSP00000353362:p.Val580Met		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788996	0.70337	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98807	-5.15	5.53	5.53	0.82687	Ion transport (1);	0.152176	0.42420	D	0.000707	D	0.99299	0.9755	M	0.90369	3.11	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.99222	1.0879	10	0.72032	D	0.01	.	18.2248	0.89914	0.0:1.0:0.0:0.0	.	581;581;580	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	M	580;581;581;581	ENSP00000353362:V580M	ENSP00000317661:V581M	V	-	1	0	CACNA1A	13280273	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.747000	0.85070	2.601000	0.87937	0.563000	0.77884	GTG		0.502	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13419273	C	T	13419273	3	4	576	1	0	0	0	0	1	0	0	0	2540	536	19	1	6033	1	CACNA1A	19	13419273	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	1527179	13419273	45709710	88	31471											
NLRP5	126206	hgsc.bcm.edu	37	19	56565046	56565046	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr19:56565046G>A	ENST00000390649.3	+	13	3171	c.3171G>A	c.(3169-3171)ctG>ctA	p.L1057L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1057					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGAGAGTCTGTCCTGTGTGA	0.592																																																0													80	80	80					19																	56565046		2081	4207	6288	SO:0001819	synonymous_variant	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3171G>A	19.37:g.56565046G>A			A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																				0.592	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56565046	G	A	56565046	2	1	576	1	0	0	0	0	0	0	0	1	10482	1364	48	2		2	NLRP5	19	56565046	Silent	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	43145773	56565046	2563937	89	31472											
PHF20	51230	hgsc.bcm.edu	37	20	34451134	34451134	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr20:34451134A>G	ENST00000374012.3	+	6	749	c.620A>G	c.(619-621)aAa>aGa	p.K207R	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.K207R			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	207	Lys-rich.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GAAAAGGGGAAAGTGTCAGAG	0.398																																																0													126	125	125					20																	34451134		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.620A>G	20.37:g.34451134A>G	ENSP00000363124:p.Lys207Arg		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163376	0.78226	.	.	ENSG00000025293	ENST00000374012;ENST00000439301;ENST00000339089;ENST00000374000;ENST00000449988	T;T;T;T	0.55413	1.27;0.52;0.56;0.57	5.5	4.38	0.52667	.	0.363973	0.31312	N	0.007876	T	0.39384	0.1076	L	0.27053	0.805	0.44627	D	0.9976	B;B;B	0.26120	0.142;0.085;0.025	B;B;B	0.26202	0.067;0.045;0.046	T	0.15983	-1.0418	10	0.34782	T	0.22	.	11.8745	0.52539	0.9307:0.0:0.0693:0.0	.	207;207;207	Q566Q2;Q9BVI0;Q66K49	.;PHF20_HUMAN;.	R	207;207;207;207;100	ENSP00000363124:K207R;ENSP00000410373:K207R;ENSP00000341900:K207R;ENSP00000363112:K207R	ENSP00000341900:K207R	K	+	2	0	PHF20	33914548	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	4.696000	0.61774	0.991000	0.38814	0.459000	0.35465	AAA		0.398	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		G	34451134	A	G	34451134	3	3	576	1	0	0	0	0	1	0	0	0	11833	14	1	3	638	3	PHF20	20	34451134	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10		34451134	28574386	90	31473											
TUBGCP6	85378	hgsc.bcm.edu	37	22	50682273	50682273	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr22:50682273A>T	ENST00000248846.5	-	1	720	c.616T>A	c.(616-618)Ttc>Atc	p.F206I	MAPK12_ENST00000497036.1_5'Flank|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.F206I|HDAC10_ENST00000498366.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	206					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTCTCTCGAACCTGTCACCA	0.612																																																0													46	48	47					22																	50682273		2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.616T>A	22.37:g.50682273A>T	ENSP00000248846:p.Phe206Ile		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432336	0.83776	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.25579	2.12;1.79	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	M	0.67953	2.075	0.50171	D	0.999857	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.972;0.986;0.986	T	0.50866	-0.8777	10	0.72032	D	0.01	.	12.9317	0.58290	1.0:0.0:0.0:0.0	.	206;206;206	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	I	206	ENSP00000248846:F206I;ENSP00000397387:F206I	ENSP00000248846:F206I	F	-	1	0	TUBGCP6	49024400	1.000000	0.71417	0.824000	0.32777	0.414000	0.31173	6.960000	0.76036	1.720000	0.51447	0.459000	0.35465	TTC		0.612	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		T	50682273	A	T	50682273	3	4	576	1	0	0	0	0	1	0	0	0	16775	43	2	5	4943	5	TUBGCP6	22	50682273	Missense_Mutation	SNP	A	TCGA-CZ-4861-01A-01D-1373-10		50682273	622293	91	31474											
PDHA1	5160	hgsc.bcm.edu;ucsc.edu	37	X	19369447	19369447	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:19369447C>G	ENST00000422285.2	+	4	445	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V	PDHA1_ENST00000379806.5_Missense_Mutation_p.L152V|PDHA1_ENST00000545074.1_Missense_Mutation_p.L121V|PDHA1_ENST00000379805.3_Missense_Mutation_p.L114V|PDHA1_ENST00000540249.1_Missense_Mutation_p.L114V			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	114					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CACAGACCATCTCATCACAGC	0.498																																																0													111	101	104					X																	19369447		2203	4300	6503	SO:0001583	missense	5160				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.340C>G	X.37:g.19369447C>G	ENSP00000394382:p.Leu114Val		A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	C	2.888	-0.230233	0.05983	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97161	-3.44;-3.44;-4.27;-3.44;-3.44;-3.44;-3.44	5.54	4.62	0.57501	Dehydrogenase, E1 component (1);	0.138874	0.50627	D	0.000117	D	0.83022	0.5164	N	0.00554	-1.385	0.53005	D	0.999962	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.003;0.002;0.001;0.004;0.001	T	0.80469	-0.1369	10	0.02654	T	1	-18.7723	5.406	0.16323	0.0:0.5225:0.2783:0.1992	.	114;121;114;152;114	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	V	152;121;114;152;114;121;114	ENSP00000369134:L152V;ENSP00000438550:L121V;ENSP00000440761:L114V;ENSP00000406473:L152V;ENSP00000394382:L114V;ENSP00000348062:L121V;ENSP00000369133:L114V	ENSP00000348062:L121V	L	+	1	0	PDHA1	19279368	0.997000	0.39634	0.998000	0.56505	0.987000	0.75469	1.295000	0.33377	2.475000	0.83589	0.529000	0.55759	CTC		0.498	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			G	19369447	C	G	19369447	3	3	576	1	0	0	0	0	1	0	0	0	11666	913	32	4	493	4	PDHA1	23	19369447	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10		19369447	135901113	92	31475											
MAGEB6	158809	hgsc.bcm.edu;ucsc.edu	37	X	26212893	26212893	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:26212893C>A	ENST00000379034.1	+	2	1079	c.930C>A	c.(928-930)ttC>ttA	p.F310L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	310	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.F310L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCTGGGAGTTCCTGGGTCTGT	0.498																																																1	Substitution - Missense(1)	lung(1)											193	187	189					X																	26212893		2202	4300	6502	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.930C>A	X.37:g.26212893C>A	ENSP00000368320:p.Phe310Leu		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038555	0.35989	.	.	ENSG00000176746	ENST00000379034	T	0.04603	3.59	3.29	0.486	0.16836	.	0.462526	0.21311	U	0.076635	T	0.17408	0.0418	M	0.84511	2.7	0.09310	N	1	D	0.71674	0.998	D	0.79108	0.992	T	0.03384	-1.1042	10	0.51188	T	0.08	.	5.5364	0.17013	0.0:0.5925:0.0:0.4075	.	310	Q8N7X4	MAGB6_HUMAN	L	310	ENSP00000368320:F310L	ENSP00000368320:F310L	F	+	3	2	MAGEB6	26122814	0.000000	0.05858	0.014000	0.15608	0.019000	0.09904	-0.085000	0.11250	-0.024000	0.13941	-0.197000	0.12766	TTC		0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		A	26212893	C	A	26212893	3	1	576	1	0	0	0	0	1	0	0	0	9181	854	30	4	932	4	MAGEB6	23	26212893	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	6843446	26212893	129057667	93	31476											
USP9X	8239	hgsc.bcm.edu;ucsc.edu	37	X	41025335	41025335	+	Silent	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:41025335A>G	ENST00000324545.8	+	16	2829	c.2196A>G	c.(2194-2196)ttA>ttG	p.L732L	USP9X_ENST00000378308.2_Silent_p.L732L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	732					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.L725L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTTCTCTGTTAACTGAAAATG	0.383																																					Ovarian(172;1807 2695 35459 49286)											1	Substitution - coding silent(1)	breast(1)											115	109	111					X																	41025335		2201	4300	6501	SO:0001819	synonymous_variant	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2196A>G	X.37:g.41025335A>G			O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	CCDS43930.1																																																																																				0.383	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		G	41025335	A	G	41025335	2	3	576	1	0	0	0	0	0	0	0	1	17095	359	13	3		3	USP9X	23	41025335	Silent	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	14812442	41025335	114245225	94	31477											
SYP	6855	hgsc.bcm.edu	37	X	49049790	49049790	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:49049790T>C	ENST00000263233.4	-	5	626	c.554A>G	c.(553-555)cAg>cGg	p.Q185R	SYP_ENST00000479808.1_Missense_Mutation_p.Q185R|SYP_ENST00000538567.1_Missense_Mutation_p.Q67R	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	185	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GTTCCCTGTCTGGCGGCAGAC	0.572																																																0													104	71	82					X																	49049790		2203	4300	6503	SO:0001583	missense	6855			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.554A>G	X.37:g.49049790T>C	ENSP00000263233:p.Gln185Arg		B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	CCDS14321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.316|9.316	1.056748|1.056748	0.19907|0.19907	.|.	.|.	ENSG00000102003|ENSG00000102003	ENST00000263233;ENST00000538567;ENST00000479808|ENST00000472598	T;T;T|.	0.70164|.	-0.46;-0.46;-0.46|.	5.11|5.11	3.93|3.93	0.45458|0.45458	Marvel (1);MARVEL-like domain (1);|.	0.278172|.	0.36665|.	N|.	0.002478|.	T|T	0.24160|0.24160	0.0585|0.0585	N|N	0.16266|0.16266	0.395|0.395	0.18873|0.18873	N|N	0.999989|0.999989	B|.	0.16396|.	0.017|.	B|.	0.15484|.	0.013|.	T|T	0.19549|0.19549	-1.0302|-1.0302	10|5	0.17832|.	T|.	0.49|.	-4.3796|-4.3796	9.5604|9.5604	0.39366|0.39366	0.1596:0.0:0.0:0.8404|0.1596:0.0:0.0:0.8404	.|.	185|.	P08247|.	SYPH_HUMAN|.	R|G	185;67;185|75	ENSP00000263233:Q185R;ENSP00000437456:Q67R;ENSP00000418169:Q185R|.	ENSP00000263233:Q185R|.	Q|R	-|-	2|1	0|2	SYP|SYP	48936734|48936734	0.992000|0.992000	0.36948|0.36948	0.970000|0.970000	0.41538|0.41538	0.980000|0.980000	0.70556|0.70556	3.802000|3.802000	0.55553|0.55553	0.740000|0.740000	0.32651|0.32651	0.486000|0.486000	0.48141|0.48141	CAG|AGA		0.572	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		C	49049790	T	C	49049790	3	2	576	1	0	0	0	0	1	0	0	0	15466	1580	55	3	395	3	SYP	23	49049790	Missense_Mutation	SNP	T	TCGA-CZ-4861-01A-01D-1373-10	8024455	49049790	106220770	95	31478											
MAGED1	9500	hgsc.bcm.edu;ucsc.edu	37	X	51637859	51637859	+	Intron	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:51637859A>G	ENST00000375722.1	+	3	297				MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375695.2_Missense_Mutation_p.Y61C|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000494718.1_Intron			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTGAGCTGCTACTGCACGCCT	0.637										Multiple Myeloma(10;0.10)																																						0													82	68	73					X																	51637859		2203	4300	6503	SO:0001627	intron_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.46-290A>G	X.37:g.51637859A>G			Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	A	6.309	0.425122	0.11987	.	.	ENSG00000179222	ENST00000375695	T	0.04015	3.73	3.21	-6.41	0.01938	.	.	.	.	.	T	0.03477	0.0100	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41179	-0.9523	8	0.56958	D	0.05	.	7.5151	0.27596	0.2208:0.0:0.6188:0.1603	.	61	Q9Y5V3-2	.	C	61	ENSP00000364847:Y61C	ENSP00000364847:Y61C	Y	+	2	0	MAGED1	51654599	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.164000	0.09983	-1.744000	0.01338	-1.629000	0.00783	TAC		0.637	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		G	51637859	A	G	51637859	1	3	576	0	1	0	0	0	0	0	0	0	9185	391	14	3		3	MAGED1	23	51637859	Intron	SNP	A	TCGA-CZ-4861-01A-01D-1373-10	2588069	51637859	103632701	96	31479											
MED12	9968	hgsc.bcm.edu	37	X	70352801	70352801	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:70352801C>T	ENST00000374080.3	+	32	4554	c.4522C>T	c.(4522-4524)Cac>Tac	p.H1508Y	MED12_ENST00000333646.6_Missense_Mutation_p.H1508Y|MED12_ENST00000374102.1_Missense_Mutation_p.H1508Y			Q93074	MED12_HUMAN	mediator complex subunit 12	1508					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGCCAGGTGCACCAGGTACA	0.532			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													36	34	34					X																	70352801		2004	4154	6158	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4522C>T	X.37:g.70352801C>T	ENSP00000363193:p.His1508Tyr		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427702	0.43122	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.62941	0.46;-0.01;0.46;-0.01;1.56	4.61	2.78	0.32641	.	0.176785	0.51477	D	0.000082	T	0.41880	0.1178	N	0.08118	0	0.33459	D	0.584714	B;B;B;B	0.14438	0.002;0.01;0.007;0.004	B;B;B;B	0.18871	0.023;0.013;0.006;0.017	T	0.48055	-0.9068	10	0.56958	D	0.05	-9.18	12.7975	0.57567	0.2978:0.7022:0.0:0.0	.	1508;1355;1508;1508	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Y	1508;1508;1508;1508;1476;253	ENSP00000333125:H1508Y;ENSP00000363215:H1508Y;ENSP00000363193:H1508Y;ENSP00000414203:H1476Y;ENSP00000408388:H253Y	ENSP00000333125:H1508Y	H	+	1	0	MED12	70269526	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.828000	0.48120	0.465000	0.27167	0.476000	0.43555	CAC		0.532	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		T	70352801	C	T	70352801	3	4	576	1	0	0	0	0	1	0	0	0	9430	710	25	2	4648	2	MED12	23	70352801	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10	18714942	70352801	84917759	97	31480											
RNF128	79589	hgsc.bcm.edu	37	X	105970574	105970574	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:105970574T>C	ENST00000255499.2	+	1	681	c.431T>C	c.(430-432)gTc>gCc	p.V144A	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	144	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCTGGAGCCGTCATCTTTAAC	0.602																																																0													53	50	51					X																	105970574		2203	4300	6503	SO:0001583	missense	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.431T>C	X.37:g.105970574T>C	ENSP00000255499:p.Val144Ala		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.289701	0.40494	.	.	ENSG00000133135	ENST00000255499	T	0.10192	2.9	4.29	3.09	0.35607	Protease-associated domain, PA (1);	0.222920	0.37530	N	0.002053	T	0.32852	0.0843	M	0.86502	2.82	0.38796	D	0.955088	D	0.76494	0.999	D	0.81914	0.995	T	0.09465	-1.0673	10	0.87932	D	0	.	7.4821	0.27411	0.195:0.0:0.0:0.805	.	144	Q8TEB7	RN128_HUMAN	A	144	ENSP00000255499:V144A	ENSP00000255499:V144A	V	+	2	0	RNF128	105857230	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	5.793000	0.69060	0.467000	0.27218	-0.405000	0.06341	GTC		0.602	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		C	105970574	T	C	105970574	3	2	576	1	0	0	0	0	1	0	0	0	13442	1667	58	3	843	3	RNF128	23	105970574	Missense_Mutation	SNP	T	TCGA-CZ-4861-01A-01D-1373-10	35617773	105970574	49299986	98	31481											
HCFC1	3054	hgsc.bcm.edu	37	X	153236183	153236183	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:153236183G>T	ENST00000310441.7	-	1	1075	c.109C>A	c.(109-111)Cgc>Agc	p.R37S	HCFC1_ENST00000354233.3_Missense_Mutation_p.R37S|TMEM187_ENST00000369982.4_5'Flank|HCFC1-AS1_ENST00000438219.1_RNA|HCFC1_ENST00000369984.4_Missense_Mutation_p.R37S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	37					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R37C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACGGCGCGGTGGCCGTGG	0.682																																																1	Substitution - Missense(1)	ovary(1)											45	43	43					X																	153236183		1990	4124	6114	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.109C>A	X.37:g.153236183G>T	ENSP00000309555:p.Arg37Ser		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008174	0.54361	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.74737	-0.87;-0.87;-0.87	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.82623	0.5077	M	0.71036	2.16	0.54753	D	0.999989	D	0.76494	0.999	D	0.80764	0.994	T	0.83003	-0.0176	10	0.54805	T	0.06	.	9.4327	0.38620	0.0:0.0:0.7876:0.2124	.	37	P51610	HCFC1_HUMAN	S	37	ENSP00000309555:R37S;ENSP00000359001:R37S;ENSP00000346174:R37S	ENSP00000309555:R37S	R	-	1	0	HCFC1	152889377	1.000000	0.71417	0.999000	0.59377	0.557000	0.35523	5.094000	0.64523	1.840000	0.53500	0.436000	0.28706	CGC		0.682	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		T	153236183	G	T	153236183	3	4	576	1	0	0	0	0	1	0	0	0	6993	1116	39	4	6102	4	HCFC1	23	153236183	Missense_Mutation	SNP	G	TCGA-CZ-4861-01A-01D-1373-10	47265609	153236183	2034377	99	31482											
KDM5D	8284	hgsc.bcm.edu	37	Y	21868427	21868427	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrY:21868427C>A	ENST00000317961.4	-	26	4440	c.4169G>T	c.(4168-4170)gGg>gTg	p.G1390V	KDM5D_ENST00000541639.1_Missense_Mutation_p.G1421V|KDM5D_ENST00000382806.2_Missense_Mutation_p.G1333V	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1390					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	AAGCAGGTCCCCTTCCATCAT	0.602																																																0													35	33	33					Y																	21868427		581	1900	2481	SO:0001583	missense	8284			U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11115	protein-coding gene	gene with protein product		426000	"Jumonji, AT rich interactive domain 1D (RBP2-like)", "Smcy homolog, Y-linked (mouse)", "jumonji, AT rich interactive domain 1D"	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.4169G>T	Y.37:g.21868427C>A	ENSP00000322408:p.Gly1390Val		A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	CCDS14794.1																																																																																				0.602	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		A	21868427	C	A	21868427	3	1	576	1	0	0	0	0	1	0	0	0	8138	623	22	4	458	4	KDM5D	24	21868427	Missense_Mutation	SNP	C	TCGA-CZ-4861-01A-01D-1373-10		21868427	37505139	100	31483											
NKAIN1	79570	hgsc.bcm.edu	37	1	31654716	31654716	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:31654716G>T	ENST00000373736.2	-	6	611	c.605C>A	c.(604-606)cCt>cAt	p.P202H	NKAIN1_ENST00000263693.1_Missense_Mutation_p.P158H|NKAIN1_ENST00000398657.2_Missense_Mutation_p.P131H|NKAIN1_ENST00000528449.1_5'Flank	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		CGTGTACAGAGGCTGCAGCTG	0.642																																																0													23	28	26					1																	31654716		2202	4299	6501	SO:0001583	missense	79570			AK022712	CCDS339.1, CCDS339.2	1p35.2	2010-06-25	2007-10-04	2007-10-04	ENSG00000084628	ENSG00000084628		"Na+/K+ transporting ATPase interacting"	25743	protein-coding gene	gene with protein product		612871	"family with sequence similarity 77, member C"	FAM77C		17606467	Standard	NM_024522		Approved	FLJ12650	uc010ogd.2	Q4KMZ8	OTTHUMG00000003788	ENST00000373736.2:c.605C>A	1.37:g.31654716G>T	ENSP00000362841:p.Pro202His		A2VDJ3|B7Z5F5|B7Z5W9|Q9H9M7	Missense_Mutation	SNP	ENST00000373736.2	37	CCDS339.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.887828|4.887828	0.91814|0.91814	.|.	.|.	ENSG00000084628|ENSG00000084628	ENST00000526106|ENST00000373736;ENST00000263693;ENST00000398657	.|T;T;T	.|0.18810	.|2.19;2.19;2.19	5.27|5.27	4.29|4.29	0.51040|0.51040	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48314|0.48314	0.1493|0.1493	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.985;1.0	.|D;D	.|0.97110	.|0.919;1.0	T|T	0.54268|0.54268	-0.8319|-0.8319	5|10	.|0.87932	.|D	.|0	-12.1898|-12.1898	14.6327|14.6327	0.68668|0.68668	0.0:0.0:0.8537:0.1462|0.0:0.0:0.8537:0.1462	.|.	.|202;131	.|Q4KMZ8;B7Z5F5	.|NKAI1_HUMAN;.	I|H	146|202;158;131	.|ENSP00000362841:P202H;ENSP00000263693:P158H;ENSP00000381650:P131H	.|ENSP00000263693:P158H	L|P	-|-	1|2	0|0	NKAIN1|NKAIN1	31427303|31427303	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.373000|7.373000	0.79623|0.79623	2.463000|2.463000	0.83235|0.83235	0.561000|0.561000	0.74099|0.74099	CTC|CCT		0.642	NKAIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010655.2	NM_024522		T	31654716	G	T	31654716	3	4	577	1	0	0	0	0	1	0	0	0	10437	1000	35	4	26	4	NKAIN1	1	31654716	Missense_Mutation	SNP	G	TCGA-CZ-4862-01A-01D-1373-10		31654716	217595905	1	31484											
TMEM39B	55116	hgsc.bcm.edu	37	1	32557363	32557363	+	Silent	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:32557363G>C	ENST00000336294.5	+	6	824	c.678G>C	c.(676-678)cgG>cgC	p.R226R	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_Missense_Mutation_p.G175R|TMEM39B_ENST00000427288.1_Silent_p.R111R|TMEM39B_ENST00000373634.4_Silent_p.R27R	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	226						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGGGGCCCCGGGAGGCGGTCA	0.612																																																0													47	47	47					1																	32557363		2203	4300	6503	SO:0001819	synonymous_variant	55116			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.678G>C	1.37:g.32557363G>C			B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Silent	SNP	ENST00000336294.5	37	CCDS351.2	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384498	0.42308	.	.	ENSG00000121775	ENST00000456834	.	.	.	5.43	1.39	0.22231	.	.	.	.	.	T	0.43590	0.1254	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21518	-1.0243	4	.	.	.	-22.0014	2.3571	0.04298	0.2737:0.1166:0.4899:0.1198	.	.	.	.	R	175	.	.	G	+	1	0	TMEM39B	32329950	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	0.545000	0.23268	0.071000	0.16664	-0.140000	0.14226	GGA		0.612	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		C	32557363	G	C	32557363	2	2	577	1	0	0	0	0	0	0	0	1	16167	1219	43	4		4	TMEM39B	1	32557363	Silent	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	902647	32557363	216693258	2	31485											
EIF2C1	26523	hgsc.bcm.edu	37	1	36358772	36358772	+	Silent	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:36358772T>C	ENST00000373204.4	+	4	618	c.405T>C	c.(403-405)atT>atC	p.I135I	AGO1_ENST00000373206.1_Silent_p.I60I	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	135					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GGCTAGCCATTGTGAGCTGGC	0.557																																																0													107	92	97					1																	36358772		2203	4300	6503	SO:0001819	synonymous_variant	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.405T>C	1.37:g.36358772T>C			Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	CCDS398.1																																																																																				0.557	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			C	36358772	T	C	36358772	2	2	577	1	0	0	0	0	0	0	0	1	5007	1800	63	3		3	EIF2C1	1	36358772	Silent	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	3801409	36358772	212891849	3	31486											
RRAGC	64121	hgsc.bcm.edu	37	1	39305249	39305249	+	Silent	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:39305249A>G	ENST00000373001.3	-	7	1352	c.1176T>C	c.(1174-1176)aaT>aaC	p.N392N	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GTGGCGTGCCATTGTGTGTCA	0.547																																																0													155	136	143					1																	39305249		2203	4300	6503	SO:0001819	synonymous_variant	64121			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.1176T>C	1.37:g.39305249A>G				Silent	SNP	ENST00000373001.3	37	CCDS430.1																																																																																				0.547	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		G	39305249	A	G	39305249	2	3	577	1	0	0	0	0	0	0	0	1	13680	214	8	3		3	RRAGC	1	39305249	Silent	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	2946477	39305249	209945372	4	31487											
LGR6	59352	hgsc.bcm.edu	37	1	202273686	202273686	+	Splice_Site	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:202273686G>A	ENST00000367278.3	+	11	1087		c.e11-1		LGR6_ENST00000255432.7_Splice_Site|LGR6_ENST00000308543.3_Splice_Site|LGR6_ENST00000439764.2_Splice_Site	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCCCTGCAGGACCCTGACC	0.637																																																0													36	39	38					1																	202273686		2203	4300	6503	SO:0001630	splice_region_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.999-1G>A	1.37:g.202273686G>A			Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Splice_Site	SNP	ENST00000367278.3	37	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520112	0.85495	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542;ENST00000439764	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2864	0.82724	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGR6	200540309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.939000	0.87685	2.578000	0.87016	0.655000	0.94253	.		0.637	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636	Intron	A	202273686	G	A	202273686	5	1	577	1	0	0	0	0	0	0	1	0	8760	1014	35	2	1187	2	LGR6	1	202273686	Splice_Site	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	162968437	202273686	46976935	5	31488											
KDM5B	10765	hgsc.bcm.edu	37	1	202710614	202710614	+	Silent	SNP	T	T	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:202710614T>G	ENST00000367265.3	-	19	3990	c.2826A>C	c.(2824-2826)atA>atC	p.I942I	KDM5B_ENST00000367264.2_Silent_p.I978I	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	942					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCCCTAGGTCTATGAGACGTC	0.547																																																0													75	70	72					1																	202710614		2203	4300	6503	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2826A>C	1.37:g.202710614T>G			O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.343772	0.24339	.	.	ENSG00000117139	ENST00000543924	.	.	.	5.95	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.5412	13.3948	0.60846	0.0:0.0:0.1313:0.8687	.	.	.	.	S	311	.	.	X	-	2	0	KDM5B	200977237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.606000	0.46291	1.051000	0.40369	0.460000	0.39030	TAG		0.547	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		G	202710614	T	G	202710614	2	3	577	1	0	0	0	0	0	0	0	1	8136	1512	53	5		5	KDM5B	1	202710614	Silent	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	436928	202710614	46540007	6	31489											
KCNS3	3790	hgsc.bcm.edu	37	2	18113361	18113362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr2:18113361_18113362insT	ENST00000403915.1	+	3	1537_1538	c.1086_1087insT	c.(1087-1089)tggfs	p.W363fs	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.W363fs	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	363	Segment H5 (pore-forming). {ECO:0000255}.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTGCTGGTGGTGGGCCACCAT	0.545																																																0																																										SO:0001589	frameshift_variant	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1087dupT	2.37:g.18113362_18113362dupT	ENSP00000385968:p.Trp363fs		D6W520|O43651|Q4ZFY1|Q96B56	Frame_Shift_Ins	INS	ENST00000403915.1	37	CCDS1692.1																																																																																				0.545	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		T	18113362	-	T	18113361	7	5	577	1	0	1	1	0	0	0	0	0	8092	1270	44	0	1088	0	KCNS3	2	18113361	Frame_Shift_Ins	INS	-	TCGA-CZ-4862-01A-01D-1373-10		18113361	225086012	7	31490											
LRP2	4036	hgsc.bcm.edu;ucsc.edu	37	2	170003359	170003359	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr2:170003359A>T	ENST00000263816.3	-	69	12986	c.12701T>A	c.(12700-12702)cTt>cAt	p.L4234H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4234					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATCGATAGAAAGGCCAGTTGG	0.453																																																0													111	98	103					2																	170003359		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12701T>A	2.37:g.170003359A>T	ENSP00000263816:p.Leu4234His		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217882	0.79352	.	.	ENSG00000081479	ENST00000263816	D	0.97598	-4.45	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99113	1.0847	10	0.87932	D	0	.	15.9892	0.80188	1.0:0.0:0.0:0.0	.	4234	P98164	LRP2_HUMAN	H	4234	ENSP00000263816:L4234H	ENSP00000263816:L4234H	L	-	2	0	LRP2	169711605	1.000000	0.71417	0.921000	0.36526	0.488000	0.33401	9.339000	0.96797	2.180000	0.69256	0.533000	0.62120	CTT		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		T	170003359	A	T	170003359	3	4	577	1	0	0	0	0	1	0	0	0	8958	72	3	5	1310	5	LRP2	2	170003359	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	151889998	170003359	73196014	8	31491											
TTLL4	9654	hgsc.bcm.edu;ucsc.edu	37	2	219612071	219612071	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr2:219612071A>G	ENST00000392102.1	+	10	2565	c.2225A>G	c.(2224-2226)aAg>aGg	p.K742R	TTLL4_ENST00000258398.4_Missense_Mutation_p.K742R|TTLL4_ENST00000442769.1_Missense_Mutation_p.K678R|TTLL4_ENST00000457313.1_Missense_Mutation_p.K577R	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	742	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGCTCCCCAAGCGAAGGCCC	0.542																																					GBM(172;1818 2053 15407 20943 49753)											0													115	101	106					2																	219612071		2203	4300	6503	SO:0001583	missense	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2225A>G	2.37:g.219612071A>G	ENSP00000375951:p.Lys742Arg		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.76|16.76	3.211734|3.211734	0.58452|0.58452	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398|ENST00000448224	T;T;T;T|.	0.06142|.	3.34;3.34;3.34;3.34|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.125588|.	0.53938|.	D|.	0.000052|.	T|T	0.52108|0.52108	0.1714|0.1714	N|N	0.24115|0.24115	0.695|0.695	0.44736|0.44736	D|D	0.99773|0.99773	B;P;B|.	0.35684|.	0.328;0.515;0.392|.	B;B;B|.	0.39119|.	0.194;0.291;0.238|.	T|T	0.49051|0.49051	-0.8979|-0.8979	10|5	0.36615|.	T|.	0.2|.	.|.	14.7359|14.7359	0.69414|0.69414	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	577;678;742|.	E9PH58;E7EX20;Q14679|.	.;.;TTLL4_HUMAN|.	R|G	577;742;678;742|74	ENSP00000393332:K577R;ENSP00000375951:K742R;ENSP00000396555:K678R;ENSP00000258398:K742R|.	ENSP00000258398:K742R|.	K|S	+|+	2|1	0|0	TTLL4|TTLL4	219320315|219320315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	2.837000|2.837000	0.48191|0.48191	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.542	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		G	219612071	A	G	219612071	3	3	577	1	0	0	0	0	1	0	0	0	16734	72	3	3	2255	3	TTLL4	2	219612071	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	49608712	219612071	23587302	9	31492											
TMEM198	130612	hgsc.bcm.edu	37	2	220414473	220414473	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr2:220414473G>A	ENST00000344458.2	+	6	1565	c.980G>A	c.(979-981)gGg>gAg	p.G327E	RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.G327E|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	327					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGGCAGACCGGGAGCTCCCTG	0.607																																																0													45	51	49					2																	220414473		2203	4300	6503	SO:0001583	missense	130612			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.980G>A	2.37:g.220414473G>A	ENSP00000343507:p.Gly327Glu			Missense_Mutation	SNP	ENST00000344458.2	37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944978	0.73672	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.1	5.1	0.69264	.	0.369709	0.27319	N	0.019907	T	0.51770	0.1694	L	0.32530	0.975	0.45541	D	0.99849	P	0.39480	0.675	B	0.39771	0.309	T	0.54642	-0.8263	9	0.49607	T	0.09	-16.9535	18.6999	0.91617	0.0:0.0:1.0:0.0	.	327	Q66K66	TM198_HUMAN	E	327	.	ENSP00000343507:G327E	G	+	2	0	TMEM198	220122717	1.000000	0.71417	0.963000	0.40424	0.945000	0.59286	7.332000	0.79203	2.824000	0.97209	0.655000	0.94253	GGG		0.607	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		A	220414473	G	A	220414473	3	1	577	1	0	0	0	0	1	0	0	0	16124	1232	43	2	994	2	TMEM198	2	220414473	Missense_Mutation	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	802402	220414473	22784900	10	31493											
GPR35	2859	hgsc.bcm.edu	37	2	241570127	241570127	+	Missense_Mutation	SNP	C	C	T	rs12468485	byFrequency	TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr2:241570127C>T	ENST00000319838.5	+	6	1700	c.758C>T	c.(757-759)aCg>aTg	p.T253M	GPR35_ENST00000438013.2_Missense_Mutation_p.T284M|GPR35_ENST00000403859.1_Missense_Mutation_p.T253M|GPR35_ENST00000407714.1_Missense_Mutation_p.T253M|GPR35_ENST00000430267.1_Missense_Mutation_p.T253M	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	253			T -> M (in dbSNP:rs12468485). {ECO:0000269|PubMed:11017071}.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CTCCTGGAGACGATCCGTCGC	0.627													C|||	245	0.0489217	0.0008	0.0303	5008	,	,		17815	0.0149		0.0845	False		,,,				2504	0.1258															0								C	MET/THR,MET/THR,MET/THR	77,4329	68.1+/-105.8	0,77,2126	132	112	119		851,851,758	-4.2	0	2	dbSNP_120	119	643,7957	164.3+/-216.7	25,593,3682	yes	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	81,81,81	25,670,5808	TT,TC,CC		7.4767,1.7476,5.5359	probably-damaging,probably-damaging,probably-damaging	284/341,284/341,253/310	241570127	720,12286	2203	4300	6503	SO:0001583	missense	2859				CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.758C>T	2.37:g.241570127C>T	ENSP00000322731:p.Thr253Met		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	CCDS2541.1	96	0.04395604395604396	1	0.0020325203252032522	14	0.03867403314917127	8	0.013986013986013986	73	0.09630606860158311	C	10.11	1.259340	0.23051	0.017476	0.074767	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	2.09	-4.17	0.03857	GPCR, rhodopsin-like superfamily (1);	1.243590	0.05916	U	0.632501	T	0.02888	0.0086	N	0.24115	0.695	0.09310	N	1	D;P	0.58268	0.982;0.952	P;B	0.47626	0.552;0.413	T	0.28681	-1.0036	10	0.33940	T	0.23	-2.1696	8.591	0.33688	0.0:0.4449:0.0:0.5551	rs12468485	284;253	A8K2J1;Q9HC97	.;GPR35_HUMAN	M	253;253;284;253;253	ENSP00000322731:T253M;ENSP00000385140:T253M;ENSP00000415890:T284M;ENSP00000384263:T253M;ENSP00000411788:T253M	ENSP00000322731:T253M	T	+	2	0	GPR35	241218800	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.969000	0.01506	-1.434000	0.01975	-0.727000	0.03589	ACG		0.627	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		T	241570127	C	T	241570127	3	4	577	1	0	0	0	0	1	0	0	0	6692	536	19	1	760	1	GPR35	2	241570127	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	21155654	241570127	1629246	11	31494											
IL17RC	84818	hgsc.bcm.edu	37	3	9974300	9974300	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:9974300A>G	ENST00000295981.3	+	17	1827	c.1609A>G	c.(1609-1611)Aag>Gag	p.K537E	CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000383812.4_Missense_Mutation_p.K451E|IL17RC_ENST00000455057.1_Missense_Mutation_p.K434E|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000413608.1_Missense_Mutation_p.K466E|CRELD1_ENST00000383811.3_5'Flank|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000416074.2_Missense_Mutation_p.K305E|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.K466E	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	537					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.K537E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGACATCCACAAGCGCTGGGC	0.542																																																1	Substitution - Missense(1)	ovary(1)											72	77	75					3																	9974300		2203	4300	6503	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1609A>G	3.37:g.9974300A>G	ENSP00000295981:p.Lys537Glu		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863208	0.51482	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T	0.44083	1.9;1.89;1.9;0.93;1.88	4.71	-2.5	0.06384	.	1.021750	0.07821	N	0.959858	T	0.24314	0.0589	N	0.19112	0.55	0.20821	N	0.999845	B;B;B;B;B;B;B;B;B	0.26318	0.012;0.012;0.002;0.002;0.009;0.007;0.012;0.146;0.037	B;B;B;B;B;B;B;B;B	0.24974	0.009;0.009;0.004;0.004;0.003;0.004;0.009;0.057;0.013	T	0.28459	-1.0043	10	0.18276	T	0.48	-3.3982	9.2504	0.37551	0.1747:0.6939:0.1314:0.0	.	451;305;434;449;466;305;451;537;466	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	E	451;537;466;305;434;466	ENSP00000373323:K451E;ENSP00000295981:K537E;ENSP00000384969:K466E;ENSP00000407894:K434E;ENSP00000396064:K466E	ENSP00000295981:K537E	K	+	1	0	IL17RC	9949300	0.022000	0.18835	0.990000	0.47175	0.975000	0.68041	-0.315000	0.08081	-0.028000	0.13850	0.379000	0.24179	AAG		0.542	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		G	9974300	A	G	9974300	3	3	577	1	0	0	0	0	1	0	0	0	7643	131	5	3	1675	3	IL17RC	3	9974300	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10		9974300	188048130	12	31495											
COL7A1	1294	hgsc.bcm.edu	37	3	48609842	48609842	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:48609842C>T	ENST00000328333.8	-	89	7056	c.6949G>A	c.(6949-6951)Ggc>Agc	p.G2317S	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2285S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2317	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGCAAGGCCTCCAGGGGCT	0.607																																																0													83	88	86					3																	48609842		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6949G>A	3.37:g.48609842C>T	ENSP00000332371:p.Gly2317Ser		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673019	0.47781	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.97089	-4.24;-4.24	5.75	5.75	0.90469	.	0.469841	0.17554	N	0.170079	D	0.95198	0.8443	L	0.36672	1.1	0.29546	N	0.85175	B	0.25351	0.124	B	0.34824	0.19	D	0.89387	0.3686	10	0.21014	T	0.42	.	17.0941	0.86630	0.0:1.0:0.0:0.0	.	2317	Q02388	CO7A1_HUMAN	S	2317;2285	ENSP00000332371:G2317S;ENSP00000412569:G2285S	ENSP00000332371:G2317S	G	-	1	0	COL7A1	48584846	0.028000	0.19301	0.999000	0.59377	0.833000	0.47200	0.494000	0.22467	2.709000	0.92574	0.557000	0.71058	GGC		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		T	48609842	C	T	48609842	3	4	577	1	0	0	0	0	1	0	0	0	3706	681	24	2	2005	2	COL7A1	3	48609842	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	38635542	48609842	149412588	13	31496											
APEH	327	hgsc.bcm.edu	37	3	49716331	49716331	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:49716331G>C	ENST00000296456.5	+	12	1507	c.1107G>C	c.(1105-1107)tgG>tgC	p.W369C	APEH_ENST00000438011.1_Missense_Mutation_p.W369C	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	369					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGGATGCTGGTCAGCTGACA	0.592																																																0													103	95	98					3																	49716331		2203	4300	6503	SO:0001583	missense	327			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1107G>C	3.37:g.49716331G>C	ENSP00000296456:p.Trp369Cys		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683886	0.88639	.	.	ENSG00000164062	ENST00000296456;ENST00000442186;ENST00000438011	T;T;T	0.48836	0.8;1.0;0.8	5.62	5.62	0.85841	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.984	T	0.79943	-0.1590	10	0.87932	D	0	-22.0963	19.2438	0.93893	0.0:0.0:1.0:0.0	.	369;369	C9JIF9;P13798	.;ACPH_HUMAN	C	369;294;369	ENSP00000296456:W369C;ENSP00000402365:W294C;ENSP00000415862:W369C	ENSP00000296456:W369C	W	+	3	0	APEH	49691335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.033000	0.93741	2.637000	0.89404	0.561000	0.74099	TGG		0.592	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			C	49716331	G	C	49716331	3	2	577	1	0	0	0	0	1	0	0	0	768	1270	44	4	1153	4	APEH	3	49716331	Missense_Mutation	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	1106489	49716331	148306099	14	31497											
ALAS1	211	hgsc.bcm.edu	37	3	52239907	52239907	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:52239907G>C	ENST00000394965.2	+	7	1213	c.853G>C	c.(853-855)Gga>Cga	p.G285R	ALAS1_ENST00000310271.2_Missense_Mutation_p.G285R|ALAS1_ENST00000469224.1_Missense_Mutation_p.G285R|ALAS1_ENST00000484952.1_Missense_Mutation_p.G285R	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	285					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AAATATTTCTGGAACTAGTAA	0.443																																																0													111	115	114					3																	52239907		2203	4300	6503	SO:0001583	missense	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.853G>C	3.37:g.52239907G>C	ENSP00000378416:p.Gly285Arg			Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277922	0.95459	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3	5.83	5.83	0.93111	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	H	0.99906	4.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97927	1.0318	10	0.87932	D	0	-17.9898	20.1005	0.97872	0.0:0.0:1.0:0.0	.	302;285	B4DVA0;P13196	.;HEM1_HUMAN	R	285	ENSP00000417719:G285R;ENSP00000378416:G285R;ENSP00000309259:G285R;ENSP00000418779:G285R	ENSP00000309259:G285R	G	+	1	0	ALAS1	52214947	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.793000	0.99091	2.758000	0.94735	0.467000	0.42956	GGA		0.443	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			C	52239907	G	C	52239907	3	2	577	1	0	0	0	0	1	0	0	0	484	1349	47	4	871	4	ALAS1	3	52239907	Missense_Mutation	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	2523576	52239907	145782523	15	31498											
PHF7	51533	hgsc.bcm.edu	37	3	52454991	52454991	+	Silent	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:52454991A>G	ENST00000327906.3	+	7	1146	c.486A>G	c.(484-486)ttA>ttG	p.L162L	PHF7_ENST00000347025.2_Silent_p.L162L	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	162						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GCTGCATCTTATGTTGTGAAG	0.478																																																0													206	185	192					3																	52454991		2203	4300	6503	SO:0001819	synonymous_variant	51533			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.486A>G	3.37:g.52454991A>G			K4DI82	Silent	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	1.605	-0.525436	0.04141	.	.	ENSG00000010318	ENST00000454052;ENST00000461861	.	.	.	5.8	-3.0	0.05480	.	.	.	.	.	T	0.67552	0.2905	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71358	-0.4617	5	0.87932	D	0	0.6293	11.6244	0.51136	0.6527:0.0:0.3473:0.0	.	.	.	.	C	127;122	.	ENSP00000399257:Y127C	Y	+	2	0	PHF7	52430031	1.000000	0.71417	0.969000	0.41365	0.259000	0.26198	0.364000	0.20325	-0.395000	0.07715	-1.215000	0.01618	TAT		0.478	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		G	52454991	A	G	52454991	2	3	577	1	0	0	0	0	0	0	0	1	11841	446	16	3		3	PHF7	3	52454991	Silent	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	215084	52454991	145567439	16	31499											
NFKBIZ	64332	hgsc.bcm.edu	37	3	101576021	101576021	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:101576021T>A	ENST00000326172.5	+	10	2044	c.1929T>A	c.(1927-1929)aaT>aaA	p.N643K	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N521K|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N543K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	643	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CTTTTGTGAATGCAAAGGTAC	0.468																																																0													76	91	86					3																	101576021		2203	4300	6503	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1929T>A	3.37:g.101576021T>A	ENSP00000325663:p.Asn643Lys		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857225	0.71834	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.98	1.01	0.19927	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.75447	2.3	0.50313	D	0.999864	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	T	0.59429	-0.7456	10	0.72032	D	0.01	-11.0852	9.7667	0.40565	0.0:0.3875:0.0:0.6125	.	521;643	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	K	543;543;521;643	ENSP00000419800:N543K;ENSP00000377618:N543K;ENSP00000325593:N521K;ENSP00000325663:N643K	ENSP00000325593:N521K	N	+	3	2	NFKBIZ	103058711	0.684000	0.27642	0.981000	0.43875	0.953000	0.61014	-0.088000	0.11198	0.176000	0.19873	0.482000	0.46254	AAT		0.468	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		A	101576021	T	A	101576021	3	1	577	1	0	0	0	0	1	0	0	0	10385	1461	51	5	1967	5	NFKBIZ	3	101576021	Missense_Mutation	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	49121030	101576021	96446409	17	31500											
FAM190A	401145	hgsc.bcm.edu	37	4	91230368	91230368	+	Silent	SNP	G	G	A	rs200529705	byFrequency	TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr4:91230368G>A	ENST00000509176.1	+	2	1221	c.933G>A	c.(931-933)acG>acA	p.T311T	CCSER1_ENST00000333691.8_Silent_p.T311T|CCSER1_ENST00000432775.2_Silent_p.T311T	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	311																	CAGAACTTACGGGAACTGTTC	0.443													G|||	4	0.000798722	0.003	0.0	5008	,	,		20621	0.0		0.0	False		,,,				2504	0.0															0								G	,	5,3809		0,5,1902	156	148	150		933,933	-3	0	4		150	0,8238		0,0,4119	no	coding-synonymous,coding-synonymous	FAM190A	NM_001145065.1,NM_207491.2	,	0,5,6021	AA,AG,GG		0.0,0.1311,0.0415	,	311/901,311/678	91230368	5,12047	1907	4119	6026	SO:0001819	synonymous_variant	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.933G>A	4.37:g.91230368G>A			Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	CCDS47099.1																																																																																				0.443	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		A	91230368	G	A	91230368	2	1	577	1	0	0	0	0	0	0	0	1	5523	1103	39	1		1	FAM190A	4	91230368	Silent	SNP	G	TCGA-CZ-4862-01A-01D-1373-10		91230368	99923908	18	31501											
ERBB2IP	55914	hgsc.bcm.edu	37	5	65321792	65321792	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr5:65321792A>G	ENST00000284037.5	+	12	1396	c.1007A>G	c.(1006-1008)cAg>cGg	p.Q336R	ERBB2IP_ENST00000416865.2_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Q336R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	336					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TACTTACAGCAGTTGCCCCCA	0.328																																																0													60	58	59					5																	65321792		2202	4300	6502	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1007A>G	5.37:g.65321792A>G	ENSP00000284037:p.Gln336Arg		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535213	0.64972	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;2.26;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.32	5.32	0.75619	.	0.051131	0.85682	D	0.000000	T	0.34019	0.0883	N	0.13003	0.285	0.80722	D	1	P;B;B;D;P;B;B;B	0.65815	0.901;0.313;0.274;0.995;0.465;0.321;0.164;0.241	B;B;B;D;B;B;B;B	0.75020	0.306;0.166;0.115;0.985;0.115;0.09;0.1;0.101	T	0.25537	-1.0129	10	0.48119	T	0.1	.	15.5804	0.76432	1.0:0.0:0.0:0.0	.	336;336;336;336;336;336;336;336	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	R	336	ENSP00000284037:Q336R;ENSP00000370330:Q336R;ENSP00000397833:Q336R;ENSP00000370326:Q336R;ENSP00000370323:Q336R;ENSP00000370322:Q336R;ENSP00000370325:Q336R;ENSP00000422766:Q336R;ENSP00000426632:Q336R;ENSP00000422015:Q336R	ENSP00000284037:Q336R	Q	+	2	0	ERBB2IP	65357548	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	8.491000	0.90468	2.130000	0.65690	0.460000	0.39030	CAG		0.328	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		G	65321792	A	G	65321792	3	3	577	1	0	0	0	0	1	0	0	0	5209	188	7	3	1045	3	ERBB2IP	5	65321792	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10		65321792	115593468	19	31502											
PDE8B	8622	hgsc.bcm.edu	37	5	76703260	76703260	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr5:76703260C>T	ENST00000264917.5	+	13	1388	c.1343C>T	c.(1342-1344)aCc>aTc	p.T448I	PDE8B_ENST00000346042.3_Missense_Mutation_p.T351I|PDE8B_ENST00000340978.3_Missense_Mutation_p.T401I|PDE8B_ENST00000505283.1_5'Flank|PDE8B_ENST00000342343.4_Missense_Mutation_p.T428I|PDE8B_ENST00000333194.4_Missense_Mutation_p.T448I	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	448					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CACTCCATGACCATCGAGGCT	0.582																																																0													139	94	109					5																	76703260		2203	4300	6503	SO:0001583	missense	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1343C>T	5.37:g.76703260C>T	ENSP00000264917:p.Thr448Ile		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882001	0.91740	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.71461	-0.4;-0.53;-0.4;-0.4;-0.57	5.66	5.66	0.87406	.	0.178518	0.37669	N	0.001995	D	0.83880	0.5350	M	0.72894	2.215	0.80722	D	1	P;P;D;P;P	0.76494	0.845;0.92;0.999;0.92;0.87	P;P;D;P;B	0.74023	0.756;0.644;0.982;0.644;0.441	T	0.83216	-0.0071	10	0.48119	T	0.1	.	19.7597	0.96309	0.0:1.0:0.0:0.0	.	351;401;448;428;448	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	I	401;351;448;428;448	ENSP00000345446:T401I;ENSP00000330428:T351I;ENSP00000264917:T448I;ENSP00000345646:T428I;ENSP00000331336:T448I	ENSP00000264917:T448I	T	+	2	0	PDE8B	76739016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.680000	0.91292	0.655000	0.94253	ACC		0.582	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		T	76703260	C	T	76703260	3	4	577	1	0	0	0	0	1	0	0	0	11656	507	18	2	1393	2	PDE8B	5	76703260	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	11381468	76703260	104212000	20	31503											
RAD50	10111	hgsc.bcm.edu	37	5	131927632	131927632	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr5:131927632T>A	ENST00000265335.6	+	11	2086	c.1699T>A	c.(1699-1701)Ttg>Atg	p.L567M	RAD50_ENST00000378823.3_Missense_Mutation_p.L428M			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	567					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACCTCACTGTTGGGATATTT	0.318								Homologous recombination																																								0													80	87	85					5																	131927632		2203	4299	6502	SO:0001583	missense	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1699T>A	5.37:g.131927632T>A	ENSP00000265335:p.Leu567Met		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.80|14.80	2.644165|2.644165	0.47258|0.47258	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394|ENST00000434288	T;T;T|.	0.09817|.	3.23;3.47;2.94|.	6.06|6.06	0.842|0.842	0.18927|0.18927	.|.	0.070231|.	0.64402|.	D|.	0.000016|.	T|T	0.41581|0.41581	0.1165|0.1165	L|L	0.38838|0.38838	1.175|1.175	0.45822|0.45822	D|D	0.998698|0.998698	P|.	0.50819|.	0.939|.	B|.	0.40602|.	0.334|.	T|T	0.14615|0.14615	-1.0466|-1.0466	10|5	0.52906|.	T|.	0.07|.	-6.8261|-6.8261	3.7724|3.7724	0.08647|0.08647	0.273:0.3475:0.0:0.3795|0.273:0.3475:0.0:0.3795	.|.	567|.	Q92878|.	RAD50_HUMAN|.	M|D	428;567;506|65	ENSP00000368100:L428M;ENSP00000265335:L567M;ENSP00000400049:L506M|.	ENSP00000265335:L567M|.	L|V	+|+	1|2	2|0	RAD50|RAD50	131955531|131955531	0.297000|0.297000	0.24408|0.24408	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	0.062000|0.062000	0.14389|0.14389	0.189000|0.189000	0.20188|0.20188	-0.274000|-0.274000	0.10170|0.10170	TTG|GTT		0.318	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		A	131927632	T	A	131927632	3	1	577	1	0	0	0	0	1	0	0	0	12990	1722	60	5	1741	5	RAD50	5	131927632	Missense_Mutation	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	55224372	131927632	48987628	21	31504											
FAT2	2196	hgsc.bcm.edu	37	5	150924102	150924102	+	Silent	SNP	G	G	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr5:150924102G>T	ENST00000261800.5	-	9	6598	c.6586C>A	c.(6586-6588)Cgg>Agg	p.R2196R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2196	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGGACTCCGGGCCTGGGTG	0.473																																																0													83	95	91					5																	150924102		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6586C>A	5.37:g.150924102G>T			O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		T	150924102	G	T	150924102	2	4	577	1	0	0	0	0	0	0	0	1	5692	1115	39	4		4	FAT2	5	150924102	Silent	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	18996470	150924102	29991158	22	31505											
POLR1C	9533	hgsc.bcm.edu	37	6	43489006	43489006	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr6:43489006T>G	ENST00000372389.3	+	9	1097	c.1009T>G	c.(1009-1011)Ttg>Gtg	p.L337V	POLR1C_ENST00000372344.2_Missense_Mutation_p.L287V|POLR1C_ENST00000304004.3_Intron|RP3-337H4.9_ENST00000607571.1_RNA	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	337					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCGGCGCTTCTTGGATGAACT	0.537																																																0													102	101	101					6																	43489006		2203	4300	6503	SO:0001583	missense	9533			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.1009T>G	6.37:g.43489006T>G	ENSP00000361465:p.Leu337Val		O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	CCDS4901.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.561667	0.45590	.	.	ENSG00000171453	ENST00000372389;ENST00000372373;ENST00000372344	D;D	0.82619	-1.63;-1.63	5.18	-2.67	0.06059	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.210872	0.39834	N	0.001252	T	0.64746	0.2626	M	0.73962	2.25	0.80722	D	1	B	0.30021	0.265	B	0.33196	0.159	T	0.56232	-0.8013	10	0.18710	T	0.47	-6.4119	7.2809	0.26310	0.1118:0.3672:0.0:0.521	.	337	O15160	RPAC1_HUMAN	V	337;201;287	ENSP00000361465:L337V;ENSP00000361419:L287V	ENSP00000361419:L287V	L	+	1	2	POLR1C	43596984	0.876000	0.30132	0.996000	0.52242	0.912000	0.54170	-0.002000	0.12924	-0.211000	0.10124	-0.256000	0.11100	TTG		0.537	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		G	43489006	T	G	43489006	3	3	577	1	0	0	0	0	1	0	0	0	12213	1606	56	5	1043	5	POLR1C	6	43489006	Missense_Mutation	SNP	T	TCGA-CZ-4862-01A-01D-1373-10		43489006	127626061	23	31506											
DST	667	hgsc.bcm.edu;ucsc.edu	37	6	56418199	56418199	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr6:56418199A>G	ENST00000361203.3	-	57	14765	c.14758T>C	c.(14758-14760)Tct>Cct	p.S4920P	DST_ENST00000421834.2_Missense_Mutation_p.S2834P|DST_ENST00000446842.2_Missense_Mutation_p.S4596P|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S2508P|DST_ENST00000370769.4_Missense_Mutation_p.S4922P|DST_ENST00000370754.5_Missense_Mutation_p.S5100P|DST_ENST00000370788.2_Missense_Mutation_p.S2834P			Q03001	DYST_HUMAN	dystonin	4920					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCTTCTCAGACCCTTGTGTT	0.328																																																0													114	108	109					6																	56418199		1822	4084	5906	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14758T>C	6.37:g.56418199A>G	ENSP00000354508:p.Ser4920Pro		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	9.955	1.221133	0.22457	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.61	0.0384	0.14200	.	0.396892	0.21458	N	0.074216	T	0.13798	0.0334	L	0.36672	1.1	0.24110	N	0.995846	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.0;0.002	B;B;B;B;B	0.12837	0.007;0.008;0.008;0.002;0.005	T	0.08868	-1.0701	9	0.27785	T	0.31	.	5.2959	0.15752	0.269:0.5513:0.0802:0.0996	.	2834;4922;5100;4920;2508	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	P	2508;5100;4922;2834;4596;2834;4920	ENSP00000244364:S2508P;ENSP00000359790:S5100P;ENSP00000359805:S4922P;ENSP00000400883:S2834P;ENSP00000393645:S4596P;ENSP00000359824:S2834P;ENSP00000354508:S4920P	ENSP00000244364:S2508P	S	-	1	0	DST	56526158	0.600000	0.26899	0.945000	0.38365	0.965000	0.64279	0.868000	0.27982	0.412000	0.25729	-0.256000	0.11100	TCT		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56418199	A	G	56418199	3	3	577	1	0	0	0	0	1	0	0	0	4785	275	10	3	8165	3	DST	6	56418199	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	12929193	56418199	114696868	24	31507											
SFRS18	25957	hgsc.bcm.edu;ucsc.edu	37	6	99858629	99858629	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr6:99858629C>T	ENST00000369239.5	-	5	693	c.489G>A	c.(487-489)caG>caA	p.Q163Q	PNISR_ENST00000438806.1_Silent_p.Q163Q|PNISR_ENST00000466057.1_5'Flank	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	163	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GATAGTCAAACTGGTTCACTG	0.408																																																0													69	64	66					6																	99858629		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.489G>A	6.37:g.99858629C>T			A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Silent	SNP	ENST00000369239.5	37	CCDS5043.1																																																																																				0.408	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		T	99858629	C	T	99858629	2	4	577	1	0	0	0	0	0	0	0	1	14180	564	20	2		2	SFRS18	6	99858629	Silent	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	43440430	99858629	71256438	25	31508											
ITGB8	3696	hgsc.bcm.edu	37	7	20371478	20371478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr7:20371478C>T	ENST00000222573.4	+	1	733	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	CTA-293F17.1_ENST00000605357.1_RNA|ITGB8_ENST00000537992.1_Intron|CTA-293F17.1_ENST00000603156.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	17					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGTCTGCCTGCAAAACGACCG	0.587																																																0													78	76	77					7																	20371478		2203	4300	6503	SO:0001587	stop_gained	3696				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.49C>T	7.37:g.20371478C>T	ENSP00000222573:p.Gln17*		A4D133|B4DHD4	Nonsense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	C	41	8.691443	0.98916	.	.	ENSG00000105855	ENST00000222573	.	.	.	5.31	5.31	0.75309	.	0.498267	0.17422	N	0.174798	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-0.6107	14.3482	0.66680	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000222573:Q17X	Q	+	1	0	ITGB8	20338003	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	3.724000	0.54962	2.765000	0.95021	0.655000	0.94253	CAA		0.587	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		T	20371478	C	T	20371478	4	4	577	1	0	0	0	0	0	1	0	0	7903	711	25	2	51	2	ITGB8	7	20371478	Nonsense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10		20371478	138767185	26	31509											
OGDH	4967	hgsc.bcm.edu;ucsc.edu	37	7	44687318	44687318	+	Silent	SNP	C	C	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr7:44687318C>A	ENST00000222673.5	+	4	519	c.477C>A	c.(475-477)tcC>tcA	p.S159S	OGDH_ENST00000443864.2_Silent_p.S159S|OGDH_ENST00000444676.1_Silent_p.S159S|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000543843.1_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	159					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ATCTGGACTCCTCCGTGCCCG	0.562																																																0													120	110	113					7																	44687318		2203	4300	6503	SO:0001819	synonymous_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.477C>A	7.37:g.44687318C>A			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																				0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			A	44687318	C	A	44687318	2	1	577	1	0	0	0	0	0	0	0	1	10841	668	24	4		4	OGDH	7	44687318	Silent	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	24315840	44687318	114451345	27	31510											
ZNF107	51427	hgsc.bcm.edu	37	7	64168486	64168486	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr7:64168486T>C	ENST00000395391.1	+	4	3179	c.1804T>C	c.(1804-1806)Tat>Cat	p.Y602H	ZNF107_ENST00000344930.3_Missense_Mutation_p.Y602H|ZNF107_ENST00000423627.1_Missense_Mutation_p.Y602H			Q9UII5	ZN107_HUMAN	zinc finger protein 107	602					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAGATAATTTATACTGGAGA	0.333																																																0																																										SO:0001583	missense	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1804T>C	7.37:g.64168486T>C	ENSP00000378789:p.Tyr602His			Missense_Mutation	SNP	ENST00000395391.1	37	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	2.635	-0.285452	0.05605	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.01548	4.78;4.78;4.78	1.27	-0.819	0.10829	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00300	0.0009	N	0.00005	-3.29	0.22811	N	0.998704	B	0.14438	0.01	B	0.12837	0.008	T	0.46857	-0.9161	8	.	.	.	.	5.3634	0.16101	0.0:0.7143:0.0:0.2857	.	602	Q9UII5	ZN107_HUMAN	H	602	ENSP00000343443:Y602H;ENSP00000400037:Y602H;ENSP00000378789:Y602H	.	Y	+	1	0	ZNF107	63805921	0.344000	0.24827	0.558000	0.28319	0.824000	0.46624	1.982000	0.40638	-0.227000	0.09884	0.260000	0.18958	TAT		0.333	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		C	64168486	T	C	64168486	3	2	577	1	0	0	0	0	1	0	0	0	17720	1754	61	3	1810	3	ZNF107	7	64168486	Missense_Mutation	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	19481168	64168486	94970177	28	31511											
ARHGEF10	9639	hgsc.bcm.edu;ucsc.edu	37	8	1881967	1881967	+	Splice_Site	SNP	T	T	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr8:1881967T>G	ENST00000398564.1	+	26	3156	c.3156T>G	c.(3154-3156)gaT>gaG	p.D1052E	ARHGEF10_ENST00000518288.1_Splice_Site_p.D1051E|ARHGEF10_ENST00000262112.6_Splice_Site_p.D1023E|ARHGEF10_ENST00000520359.1_Splice_Site_p.D989E|ARHGEF10_ENST00000349830.3_Splice_Site_p.D1027E			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1052					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCTTTTAAGATGGATCCTGGG	0.423																																																0													114	114	114					8																	1881967		2203	4300	6503	SO:0001630	splice_region_variant	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3155-1T>G	8.37:g.1881967T>G			O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		.	.	.	.	.	.	.	.	.	.	T	12.41	1.928548	0.34002	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.11	2.75	0.32379	.	0.100098	0.64402	D	0.000003	T	0.31765	0.0807	M	0.83012	2.62	0.80722	D	1	P;B	0.37061	0.58;0.04	B;B	0.33254	0.16;0.056	T	0.06162	-1.0842	10	0.33141	T	0.24	.	8.3742	0.32434	0.0:0.2279:0.0:0.7721	.	989;1027	O15013-7;O15013-5	.;.	E	1027;989;1051;1052;1023;671	ENSP00000340297:D1027E;ENSP00000427909:D989E;ENSP00000431012:D1051E;ENSP00000381571:D1052E;ENSP00000262112:D1023E;ENSP00000427768:D671E	ENSP00000262112:D1023E	D	+	3	2	ARHGEF10	1869374	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.507000	0.35758	0.374000	0.24650	0.533000	0.62120	GAT		0.423	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	G	1881967	T	G	1881967	5	3	577	1	0	0	0	0	0	0	1	0	894	1478	51	5	3179	5	ARHGEF10	8	1881967	Splice_Site	SNP	T	TCGA-CZ-4862-01A-01D-1373-10		1881967	144482055	29	31512											
CSMD1	64478	hgsc.bcm.edu;ucsc.edu	37	8	3046465	3046465	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr8:3046465C>T	ENST00000520002.1	-	36	6025	c.5470G>A	c.(5470-5472)Gga>Aga	p.G1824R	CSMD1_ENST00000537824.1_Missense_Mutation_p.G1823R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1824R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1824R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1823R|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1824R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1823R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1824	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTTGTTTCCGTATGGCTCA	0.478																																																0													69	65	66					8																	3046465		1893	4112	6005	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5470G>A	8.37:g.3046465C>T	ENSP00000430733:p.Gly1824Arg		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.22|12.22	1.873369|1.873369	0.33069|0.33069	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.16743|.	2.32;2.32;2.32;2.32;2.32|.	5.53|5.53	5.53|5.53	0.82687|0.82687	CUB (5);|.	0.150694|.	0.46145|.	D|.	0.000305|.	T|T	0.50377|0.50377	0.1612|0.1612	N|N	0.21508|0.21508	0.67|0.67	0.42961|0.42961	D|D	0.994406|0.994406	D;P;P|.	0.89917|.	1.0;0.571;0.926|.	D;P;P|.	0.97110|.	1.0;0.464;0.531|.	T|T	0.46345|0.46345	-0.9198|-0.9198	10|5	0.16420|.	T|.	0.52|.	.|.	12.7615|12.7615	0.57367|0.57367	0.0:0.9253:0.0:0.0747|0.0:0.9253:0.0:0.0747	.|.	1824;1824;1824|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	R|Q	1824;1824;1686;1823;1823;1823|1303	ENSP00000383047:G1824R;ENSP00000430733:G1824R;ENSP00000441462:G1823R;ENSP00000446243:G1823R;ENSP00000441675:G1823R|.	ENSP00000320445:G1686R|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	3033872|3033872	1.000000|1.000000	0.71417|0.71417	0.358000|0.358000	0.25811|0.25811	0.200000|0.200000	0.23975|0.23975	4.007000|4.007000	0.57093|0.57093	2.582000|2.582000	0.87167|0.87167	0.637000|0.637000	0.83480|0.83480	GGA|CGG		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		T	3046465	C	T	3046465	3	4	577	1	0	0	0	0	1	0	0	0	3946	661	23	1	5371	1	CSMD1	8	3046465	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	1164498	3046465	143317557	30	31513											
TCEB1	6921	ucsc.edu	37	8	74858969	74858969	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	A	T	A	A	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr8:74858969A>T	ENST00000522337.1	-	5	554	c.235T>A	c.(235-237)Tac>Aac	p.Y79N	TCEB1_ENST00000284811.8_Missense_Mutation_p.Y79N|TCEB1_ENST00000519487.1_Missense_Mutation_p.Y79N|TCEB1_ENST00000520210.1_Missense_Mutation_p.Y63N|TCEB1_ENST00000523815.1_Missense_Mutation_p.Y79N|TCEB1_ENST00000520242.1_Missense_Mutation_p.Y79N|TCEB1_ENST00000518127.1_Missense_Mutation_p.Y79N|TCEB1_ENST00000602840.1_Intron			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	79					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			CGAACCTTGTACGTAAAATAC	0.418																																																0													95	77	83					8																	74858969		2203	4300	6503	SO:0001583	missense	6921			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.235T>A	8.37:g.74858969A>T	ENSP00000429906:p.Tyr79Asn		E5RGD9|Q567Q6	Missense_Mutation	SNP	ENST00000522337.1	37	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.194603	0.58017	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.66	4.44	0.53790	BTB/POZ fold (2);	0.000000	0.48286	D	0.000198	T	0.63628	0.2527	H	0.94264	3.515	0.80722	D	1	B	0.26195	0.144	B	0.41646	0.362	T	0.70081	-0.4970	10	0.62326	D	0.03	-1.9844	11.6617	0.51349	0.8673:0.0:0.0:0.1327	.	79	Q15369	ELOC_HUMAN	N	79;63;79;79;79;79;79;79	ENSP00000428334:Y79N;ENSP00000430224:Y63N;ENSP00000428171:Y79N;ENSP00000429596:Y79N;ENSP00000284811:Y79N;ENSP00000429906:Y79N;ENSP00000428074:Y79N;ENSP00000429789:Y79N	ENSP00000284811:Y79N	Y	-	1	0	TCEB1	75021523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.810000	0.75216	2.157000	0.67596	0.482000	0.46254	TAC		0.418	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		T	74858969	A	T	74858969	3	4	577	1	0	0	0	0	1	0	0	0	15684	391	14	5	107	5	TCEB1	8	74858969	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	71812504	74858969	71505053	31	31514											
RBM12B	389677	hgsc.bcm.edu	37	8	94746443	94746443	+	Silent	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr8:94746443A>C	ENST00000399300.2	-	3	2409	c.2196T>G	c.(2194-2196)cgT>cgG	p.R732R	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	732							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGGGTGGCCGACGGAAATGCT	0.647																																																0													80	87	85					8																	94746443		1885	4103	5988	SO:0001819	synonymous_variant	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2196T>G	8.37:g.94746443A>C			A8MYB5	Silent	SNP	ENST00000399300.2	37	CCDS43755.1																																																																																				0.647	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		C	94746443	A	C	94746443	2	2	577	1	0	0	0	0	0	0	0	1	13120	262	10	5		5	RBM12B	8	94746443	Silent	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	19887474	94746443	51617579	32	31515											
C9orf3	84909	hgsc.bcm.edu	37	9	97823000	97823000	+	Missense_Mutation	SNP	C	C	T	rs187186964		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr9:97823000C>T	ENST00000375315.2	+	13	2140	c.2140C>T	c.(2140-2142)Ctt>Ttt	p.L714F	C9orf3_ENST00000425634.2_Missense_Mutation_p.L76F|C9orf3_ENST00000297979.5_Missense_Mutation_p.L615F|C9orf3_ENST00000433691.2_Missense_Mutation_p.L55F	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	714					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCTGGTCTTGCTTCTGGAGCA	0.488																																																0													122	109	113					9																	97823000		2203	4300	6503	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2140C>T	9.37:g.97823000C>T	ENSP00000364464:p.Leu714Phe		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.13|12.13	1.844227|1.844227	0.32606|0.32606	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000445181|ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314	.|T;T;T;T;T;T	.|0.17528	.|2.27;2.27;2.27;2.27;2.27;2.27	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38480|0.38480	0.1042|0.1042	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;P	.|0.89917	.|1.0;1.0;0.985;1.0;0.82	.|D;D;P;D;P	.|0.91635	.|0.999;0.999;0.858;0.999;0.615	T|T	0.17806|0.17806	-1.0357|-1.0357	5|10	.|0.02654	.|T	.|1	-15.644|-15.644	19.5946|19.5946	0.95530|0.95530	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|55;76;714;615;615	.|B4DU39;B4DQU3;Q8N6M6;Q8N6M6-4;Q8N6M6-2	.|.;.;AMPO_HUMAN;.;.	V|F	78|615;714;438;496;76;55;78	.|ENSP00000297979:L615F;ENSP00000364464:L714F;ENSP00000402171:L438F;ENSP00000401854:L496F;ENSP00000411815:L76F;ENSP00000399365:L55F	.|ENSP00000297979:L615F	A|L	+|+	2|1	0|0	C9orf3|C9orf3	96862821|96862821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.465000|5.465000	0.66725|0.66725	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCT|CTT		0.488	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		T	97823000	C	T	97823000	3	4	577	1	0	0	0	0	1	0	0	0	2479	797	28	2	1885	2	C9orf3	9	97823000	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10		97823000	43390431	33	31516											
RAD23B	5887	hgsc.bcm.edu	37	9	110084347	110084348	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr9:110084347_110084348delGG	ENST00000358015.3	+	7	1116_1117	c.765_766delGG	c.(763-768)gtggctfs	p.A260fs	RAD23B_ENST00000416373.2_Frame_Shift_Del_p.A188fs	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	260	Poly-Ala.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CTTCAGCAGTGGCTGCAGCTGC	0.5								Direct reversal of damage;Nucleotide excision repair (NER)																																								0																																										SO:0001589	frameshift_variant	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.765_766delGG	9.37:g.110084347_110084348delGG	ENSP00000350708:p.Ala260fs		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Frame_Shift_Del	DEL	ENST00000358015.3	37	CCDS6769.1																																																																																				0.5	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		-	110084348	GG	-	110084347	7	5	577	1	0	1	0	1	0	0	0	0	12989	1335	47	0	791	0	RAD23B	9	110084347	Frame_Shift_Del	DEL	GG	TCGA-CZ-4862-01A-01D-1373-10	12261347	110084347	31129084	34	31517											
PTPN3	5774	hgsc.bcm.edu	37	9	112151594	112151594	+	Silent	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr9:112151594G>C	ENST00000374541.2	-	22	2276	c.2172C>G	c.(2170-2172)acC>acG	p.T724T	PTPN3_ENST00000412145.1_Silent_p.T593T|PTPN3_ENST00000446349.1_Silent_p.T548T|PTPN3_ENST00000262539.3_Silent_p.T570T|PTPN3_ENST00000394827.3_Silent_p.T192T|PTPN3_ENST00000497739.1_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	724	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACTGTGCACAGGTATGCGGCA	0.468																																																0													86	77	80					9																	112151594		2203	4300	6503	SO:0001819	synonymous_variant	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2172C>G	9.37:g.112151594G>C			A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	CCDS6776.1																																																																																				0.468	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			C	112151594	G	C	112151594	2	2	577	1	0	0	0	0	0	0	0	1	12795	987	35	4		4	PTPN3	9	112151594	Silent	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	2067247	112151594	29061837	35	31518											
RALGPS1	9649	hgsc.bcm.edu	37	9	129974994	129974994	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr9:129974994A>C	ENST00000259351.5	+	16	1709	c.1442A>C	c.(1441-1443)aAa>aCa	p.K481T	RALGPS1_ENST00000373434.1_Missense_Mutation_p.K439T|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.K439T	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	481	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACAGACAGAAAACACGTAAGT	0.557																																																0													79	64	69					9																	129974994		2203	4300	6503	SO:0001583	missense	9649			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1442A>C	9.37:g.129974994A>C	ENSP00000259351:p.Lys481Thr		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	CCDS35143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.36|18.36	3.607237|3.607237	0.66558|0.66558	.|.	.|.	ENSG00000136828|ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434|ENST00000438723	T;T;T|.	0.76060|.	1.71;1.64;-0.99|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.153144|.	0.64402|.	D|.	0.000013|.	T|T	0.60663|0.60663	0.2286|0.2286	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.99999|0.99999	P;P;P|.	0.46395|.	0.505;0.877;0.495|.	P;P;B|.	0.49708|.	0.55;0.62;0.371|.	T|T	0.58188|0.58188	-0.7680|-0.7680	10|5	0.56958|.	D|.	0.05|.	.|.	15.0619|15.0619	0.71961|0.71961	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	439;439;481|.	E9PBQ5;Q5JS13-2;Q5JS13|.	.;.;RGPS1_HUMAN|.	T|H	481;439;439|77	ENSP00000259351:K481T;ENSP00000415630:K439T;ENSP00000362533:K439T|.	ENSP00000259351:K481T|.	K|N	+|+	2|1	0|0	RALGPS1|RALGPS1	129014815|129014815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	6.554000|6.554000	0.73923|0.73923	1.953000|1.953000	0.56701|0.56701	0.533000|0.533000	0.62120|0.62120	AAA|AAC		0.557	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		C	129974994	A	C	129974994	3	2	577	1	0	0	0	0	1	0	0	0	13023	14	1	5	1500	5	RALGPS1	9	129974994	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	17823400	129974994	11238437	36	31519											
SFTPD	6441	hgsc.bcm.edu	37	10	81702585	81702585	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr10:81702585C>T	ENST00000372292.3	-	3	290	c.250G>A	c.(250-252)Gtt>Att	p.V84I		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	84	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTGGGCCCAACTGGGCCAGCT	0.572																																																0													128	102	110					10																	81702585		2203	4300	6503	SO:0001583	missense	6441			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.250G>A	10.37:g.81702585C>T	ENSP00000361366:p.Val84Ile		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585482	0.28268	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	D;D	0.93307	-3.2;-3.2	5.82	-0.0975	0.13632	.	0.602176	0.15632	N	0.252319	T	0.80737	0.4680	N	0.04320	-0.23	0.23050	N	0.998374	B	0.09022	0.002	B	0.14578	0.011	T	0.69595	-0.5103	10	0.35671	T	0.21	-2.0884	5.4191	0.16390	0.0:0.2843:0.1587:0.557	.	84	P35247	SFTPD_HUMAN	I	84;97	ENSP00000361366:V84I;ENSP00000394325:V97I	ENSP00000361366:V84I	V	-	1	0	SFTPD	81692565	0.047000	0.20315	0.876000	0.34364	0.619000	0.37552	-0.337000	0.07852	0.056000	0.16144	-0.150000	0.13652	GTT		0.572	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			T	81702585	C	T	81702585	3	4	577	1	0	0	0	0	1	0	0	0	14199	565	20	2	901	2	SFTPD	10	81702585	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10		81702585	53832162	37	31520											
CARS	833	hgsc.bcm.edu	37	11	3022346	3022346	+	Nonstop_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:3022346A>C	ENST00000397111.5	-	22	2490	c.2245T>G	c.(2245-2247)Tga>Gga	p.*749G	CARS_ENST00000397114.3_Nonstop_Mutation_p.*739G|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000401769.3_3'UTR|CARS_ENST00000278224.9_3'UTR|CARS_ENST00000380525.4_Nonstop_Mutation_p.*832G			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	0					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GTGCCCCCTCACTGGAAGCTT	0.517			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													157	142	147					11																	3022346		2202	4299	6501	SO:0001578	stop_lost	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.2245T>G	11.37:g.3022346A>C	ENSP00000380300:p.*749Argext*8		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.526830	0.27299	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000397114	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5843	0.56408	1.0:0.0:0.0:0.0	.	.	.	.	G	832;749;739	.	.	X	-	1	0	CARS	2978922	0.016000	0.18221	0.218000	0.23776	0.046000	0.14306	1.829000	0.39121	1.894000	0.54839	0.533000	0.62120	TGA		0.517	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		C	3022346	A	C	3022346	4	2	577	1	0	0	0	0	0	0	0	0	2659	172	6	5	5	5	CARS	11	3022346	Nonstop_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10		3022346	131984170	38	31521											
OR51V1	283111	hgsc.bcm.edu	37	11	5221676	5221676	+	Silent	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:5221676G>C	ENST00000321255.1	-	1	254	c.255C>G	c.(253-255)tcC>tcG	p.S85S		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	85					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)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTACACAGTGGACAGCCCCA	0.532																																																0													89	75	80					11																	5221676		2201	4298	6499	SO:0001819	synonymous_variant	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.255C>G	11.37:g.5221676G>C				Silent	SNP	ENST00000321255.1	37	CCDS31375.1																																																																																				0.532	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		C	5221676	G	C	5221676	2	2	577	1	0	0	0	0	0	0	0	1	11109	1335	47	4		4	OR51V1	11	5221676	Silent	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	2199330	5221676	129784840	39	31522											
TRIM34	53840	hgsc.bcm.edu	37	11	5653647	5653647	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:5653647A>T	ENST00000514226.1	+	2	423	c.86A>T	c.(85-87)gAc>gTc	p.D29V	TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.D383V|TRIM34_ENST00000429814.2_Missense_Mutation_p.D29V|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.D29V	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	29					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGAGTCTAGACTGTGGCCAC	0.532																																																0													126	113	118					11																	5653647		2201	4297	6498	SO:0001583	missense	53840			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.86A>T	11.37:g.5653647A>T	ENSP00000422947:p.Asp29Val		D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680421	0.29872	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	2.83	-3.42	0.04825	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.15522	0.0374	L	0.51422	1.61	0.09310	N	0.999995	P;B;B	0.47841	0.901;0.262;0.432	P;P;B	0.57101	0.813;0.494;0.163	T	0.12091	-1.0561	9	0.87932	D	0	.	9.7054	0.40211	0.7454:0.0:0.2546:0.0	.	29;29;383	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	V	383;29;29;29;383	ENSP00000422947:D29V;ENSP00000402595:D29V;ENSP00000395982:D29V;ENSP00000346916:D383V	ENSP00000402595:D29V	D	+	2	0	TRIM34;TRIM6-TRIM34	5610223	0.000000	0.05858	0.301000	0.25044	0.562000	0.35680	-1.076000	0.03420	-0.881000	0.03992	-0.253000	0.11424	GAC		0.532	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		T	5653647	A	T	5653647	3	4	577	1	0	0	0	0	1	0	0	0	16513	275	10	5	88	5	TRIM34	11	5653647	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	431971	5653647	129352869	40	31523											
PTPN5	84867	hgsc.bcm.edu	37	11	18751361	18751361	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:18751361C>T	ENST00000358540.2	-	13	1764	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396166.3_Missense_Mutation_p.G51E|PTPN5_ENST00000477854.1_Missense_Mutation_p.G249E|PTPN5_ENST00000396171.4_Missense_Mutation_p.G445E|PTPN5_ENST00000396168.1_Missense_Mutation_p.G421E|PTPN5_ENST00000396170.1_Missense_Mutation_p.G413E|PTPN5_ENST00000396167.2_Missense_Mutation_p.G413E	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	445	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTCCTCAGTCCCACTCTGTCG	0.592																																																0													41	51	48					11																	18751361		2183	4280	6463	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1334G>A	11.37:g.18751361C>T	ENSP00000351342:p.Gly445Glu		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930167	0.34096	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396166;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;D;T;T;T;T	0.82344	1.58;1.58;-1.6;1.58;1.58;1.58;1.58	4.26	4.26	0.50523	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.067410	0.56097	D	0.000021	T	0.67534	0.2903	N	0.16790	0.44	0.46849	D	0.999223	B;B	0.31077	0.074;0.307	B;B	0.26693	0.07;0.072	T	0.65315	-0.6198	10	0.23302	T	0.38	.	11.4702	0.50264	0.0:0.9125:0.0:0.0875	.	445;413	P54829;B3KXG7	PTN5_HUMAN;.	E	249;445;51;413;445;413;421	ENSP00000435056:G249E;ENSP00000351342:G445E;ENSP00000379469:G51E;ENSP00000379473:G413E;ENSP00000379474:G445E;ENSP00000379470:G413E;ENSP00000379471:G421E	ENSP00000351342:G445E	G	-	2	0	PTPN5	18707937	0.944000	0.32072	0.982000	0.44146	0.997000	0.91878	1.984000	0.40658	2.210000	0.71456	0.655000	0.94253	GGG		0.592	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		T	18751361	C	T	18751361	3	4	577	1	0	0	0	0	1	0	0	0	12797	623	22	2	375	2	PTPN5	11	18751361	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	13097714	18751361	116255155	41	31524											
PDHX	8050	hgsc.bcm.edu	37	11	35016594	35016594	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:35016594C>T	ENST00000227868.4	+	11	1465	c.1381C>T	c.(1381-1383)Ctg>Ttg	p.L461L	PDHX_ENST00000448838.3_Silent_p.L446L|PDHX_ENST00000430469.2_Silent_p.L234L|PDHX_ENST00000477173.3_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	461					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			AAATGCCAAACTGCAGCAGCG	0.483																																																0													126	118	121					11																	35016594		2202	4298	6500	SO:0001819	synonymous_variant	8050			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.1381C>T	11.37:g.35016594C>T			B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	ENST00000227868.4	37	CCDS7896.1																																																																																				0.483	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		T	35016594	C	T	35016594	2	4	577	1	0	0	0	0	0	0	0	1	11669	564	20	2		2	PDHX	11	35016594	Silent	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	16265233	35016594	99989922	42	31525											
DSCAML1	57453	hgsc.bcm.edu	37	11	117299382	117299382	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:117299382G>C	ENST00000321322.6	-	33	6005	c.6004C>G	c.(6004-6006)Cgc>Ggc	p.R2002G	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1732G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1942	Pro-rich.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCAGGTGGCGAGCCTGGGTG	0.677																																																0													30	30	30					11																	117299382		2198	4295	6493	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.6004C>G	11.37:g.117299382G>C	ENSP00000315465:p.Arg2002Gly		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240299	0.58995	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.64438	-0.05;-0.1	4.93	4.93	0.64822	.	.	.	.	.	T	0.42381	0.1200	N	0.08118	0	0.54753	D	0.999987	B	0.12013	0.005	B	0.10450	0.005	T	0.31336	-0.9947	9	0.34782	T	0.22	.	13.6021	0.62026	0.0:0.0:0.844:0.156	.	1942	Q8TD84	DSCL1_HUMAN	G	1732;2002;1709	ENSP00000434335:R1732G;ENSP00000315465:R2002G	ENSP00000315465:R2002G	R	-	1	0	DSCAML1	116804592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.991000	0.56973	2.279000	0.76181	0.462000	0.41574	CGC		0.677	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		C	117299382	G	C	117299382	3	2	577	1	0	0	0	0	1	0	0	0	4771	1058	37	4	341	4	DSCAML1	11	117299382	Missense_Mutation	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	82282788	117299382	17707134	43	31526											
NAV3	89795	hgsc.bcm.edu	37	12	78401149	78401149	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr12:78401149A>C	ENST00000397909.2	+	8	2004	c.1831A>C	c.(1831-1833)Aat>Cat	p.N611H	NAV3_ENST00000228327.6_Missense_Mutation_p.N611H|NAV3_ENST00000536525.2_Missense_Mutation_p.N611H|NAV3_ENST00000266692.7_Missense_Mutation_p.N611H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	611						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAGCACAGGAAATGGTGCTGT	0.532										HNSCC(70;0.22)																																						0													134	133	133					12																	78401149		2102	4218	6320	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1831A>C	12.37:g.78401149A>C	ENSP00000381007:p.Asn611His		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	A	17.11	3.304636	0.60305	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	4.69	4.69	0.59074	.	0.000000	0.42682	U	0.000674	T	0.17577	0.0422	L	0.42245	1.32	0.80722	D	1	P;P	0.41131	0.739;0.729	B;B	0.44224	0.444;0.351	T	0.01424	-1.1358	10	0.66056	D	0.02	-24.0287	14.1398	0.65313	1.0:0.0:0.0:0.0	.	611;611	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	H	611	ENSP00000446628:N611H;ENSP00000446132:N611H;ENSP00000381007:N611H;ENSP00000228327:N611H;ENSP00000266692:N611H	ENSP00000228327:N611H	N	+	1	0	NAV3	76925280	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	7.143000	0.77348	1.751000	0.51876	0.454000	0.30748	AAT		0.532	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		C	78401149	A	C	78401149	3	2	577	1	0	0	0	0	1	0	0	0	10187	14	1	5	1861	5	NAV3	12	78401149	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10		78401149	55450746	44	31527											
ELK3	2004	hgsc.bcm.edu	37	12	96641322	96641322	+	Missense_Mutation	SNP	T	T	G	rs199857700		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr12:96641322T>G	ENST00000228741.3	+	3	1138	c.812T>G	c.(811-813)cTg>cGg	p.L271R	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	271					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TCCGATTCCCTGGAGCCCTTG	0.597																																																0													64	72	69					12																	96641322		2203	4300	6503	SO:0001583	missense	2004			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.812T>G	12.37:g.96641322T>G	ENSP00000228741:p.Leu271Arg		B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.275601	0.40294	.	.	ENSG00000111145	ENST00000228741	T	0.32988	1.43	5.93	5.93	0.95920	.	0.596762	0.17763	N	0.162825	T	0.39489	0.1080	M	0.61703	1.905	0.80722	D	1	P	0.45348	0.856	P	0.44477	0.451	T	0.18935	-1.0321	10	0.45353	T	0.12	.	16.3829	0.83481	0.0:0.0:0.0:1.0	.	271	P41970	ELK3_HUMAN	R	271	ENSP00000228741:L271R	ENSP00000228741:L271R	L	+	2	0	ELK3	95165453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	2.271000	0.75665	0.459000	0.35465	CTG		0.597	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		G	96641322	T	G	96641322	3	3	577	1	0	0	0	0	1	0	0	0	5062	1580	55	5	818	5	ELK3	12	96641322	Missense_Mutation	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	18240173	96641322	37210573	45	31528											
RBM19	9904	hgsc.bcm.edu	37	12	114397159	114397159	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr12:114397159C>T	ENST00000545145.2	-	5	507	c.429G>A	c.(427-429)cgG>cgA	p.R143R	RBM19_ENST00000392561.3_Silent_p.R143R|RBM19_ENST00000261741.5_Silent_p.R143R	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	143					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTGCCTGCGCCCGCCTCTGAT	0.587																																																0													70	71	71					12																	114397159		2203	4300	6503	SO:0001819	synonymous_variant	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.429G>A	12.37:g.114397159C>T			A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																				0.587	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114397159	C	T	114397159	2	4	577	1	0	0	0	0	0	0	0	1	13127	610	22	2		2	RBM19	12	114397159	Silent	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	17755837	114397159	19454736	46	31529											
MYH6	4624	hgsc.bcm.edu	37	14	23865529	23865529	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr14:23865529A>C	ENST00000356287.3	-	19	2422	c.2393T>G	c.(2392-2394)cTc>cGc	p.L798R	MYH6_ENST00000405093.3_Missense_Mutation_p.L798R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	798	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AATGCGCATGAGCTGGCCCCG	0.572																																																0													94	84	87					14																	23865529		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2393T>G	14.37:g.23865529A>C	ENSP00000348634:p.Leu798Arg		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	a	16.95	3.264042	0.59431	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.74421	-0.84;-0.84	4.78	4.78	0.61160	.	.	.	.	.	D	0.90113	0.6911	H	0.96333	3.805	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.93218	0.6606	9	0.87932	D	0	.	14.5986	0.68424	1.0:0.0:0.0:0.0	.	798	P13533	MYH6_HUMAN	R	798	ENSP00000386041:L798R;ENSP00000348634:L798R	ENSP00000348634:L798R	L	-	2	0	MYH6	22935369	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	8.973000	0.93428	1.929000	0.55896	0.528000	0.53228	CTC		0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			C	23865529	A	C	23865529	3	2	577	1	0	0	0	0	1	0	0	0	10040	304	11	5	3506	5	MYH6	14	23865529	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10		23865529	83484011	47	31530											
CTAGE5	4253	hgsc.bcm.edu	37	14	39783949	39783949	+	Silent	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr14:39783949A>G	ENST00000280083.3	+	15	1616	c.1302A>G	c.(1300-1302)cgA>cgG	p.R434R	CTAGE5_ENST00000348007.3_Silent_p.R434R|CTAGE5_ENST00000553352.1_Silent_p.R405R|CTAGE5_ENST00000556148.1_Silent_p.R359R|CTAGE5_ENST00000396165.4_Silent_p.R405R|CTAGE5_ENST00000396158.2_Silent_p.R439R|CTAGE5_ENST00000341502.5_Silent_p.R434R|CTAGE5_ENST00000557038.1_Silent_p.R354R|RP11-407N17.3_ENST00000553728.1_Silent_p.R969R|CTAGE5_ENST00000341749.3_Silent_p.R422R|RP11-407N17.3_ENST00000603904.1_Silent_p.R405R			O15320	CTGE5_HUMAN	CTAGE family, member 5	434					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTAGAAAGCGAGCCAAAGATC	0.303																																																0													48	55	53					14																	39783949		2202	4296	6498	SO:0001819	synonymous_variant	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1302A>G	14.37:g.39783949A>G			B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	CCDS9674.1																																																																																				0.303	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		G	39783949	A	G	39783949	2	3	577	1	0	0	0	0	0	0	0	1	3996	291	11	3		3	CTAGE5	14	39783949	Silent	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	15918420	39783949	67565591	48	31531											
ZFYVE26	23503	hgsc.bcm.edu	37	14	68256097	68256097	+	Silent	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr14:68256097A>G	ENST00000347230.4	-	16	3112	c.2974T>C	c.(2974-2976)Ttg>Ctg	p.L992L	ZFYVE26_ENST00000555452.1_Silent_p.L992L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	992					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTGTCTCCAAAAGCTGCTTG	0.522																																																0													68	72	70					14																	68256097		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2974T>C	14.37:g.68256097A>G			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1																																																																																				0.522	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		G	68256097	A	G	68256097	2	3	577	1	0	0	0	0	0	0	0	1	17673	11	1	3		3	ZFYVE26	14	68256097	Silent	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	28472148	68256097	39093443	49	31532											
SIPA1L1	26037	hgsc.bcm.edu	37	14	72055087	72055087	+	Silent	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr14:72055087T>C	ENST00000555818.1	+	2	846	c.498T>C	c.(496-498)gcT>gcC	p.A166A	SIPA1L1_ENST00000381232.3_Silent_p.A166A|SIPA1L1_ENST00000358550.2_Silent_p.A166A	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	166					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCAGAAAAGCTCTTCGCAGAA	0.463																																																0													69	65	66					14																	72055087		2203	4300	6503	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.498T>C	14.37:g.72055087T>C			J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.463	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		C	72055087	T	C	72055087	2	2	577	1	0	0	0	0	0	0	0	1	14335	1538	54	3		3	SIPA1L1	14	72055087	Silent	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	3798990	72055087	35294453	50	31533											
C14orf153	84334	hgsc.bcm.edu	37	14	104053676	104053676	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr14:104053676T>C	ENST00000409074.2	+	4	491	c.490T>C	c.(490-492)Ttt>Ctt	p.F164L	APOPT1_ENST00000247618.4_Missense_Mutation_p.F151L|APOPT1_ENST00000556253.2_3'UTR|APOPT1_ENST00000477116.1_3'UTR|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.F164L	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial	164					intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)	mitochondrion (GO:0005739)											AAGTAAAAATTTTCAGAAGCA	0.328																																																0													48	51	50					14																	104053676		2203	4296	6499	SO:0001583	missense	0			BC007412	CCDS9983.2	14q32.33	2012-06-28	2012-06-28	2011-09-07	ENSG00000256053	ENSG00000256053			20492	protein-coding gene	gene with protein product	"apoptogenic protein 1"		"chromosome 14 open reading frame 153", "apoptogenic 1"	C14orf153		16782708, 18977203	Standard	NM_032374		Approved	MGC2562, APOP-1		Q96IL0	OTTHUMG00000153929	ENST00000409074.2:c.490T>C	14.37:g.104053676T>C	ENSP00000386485:p.Phe164Leu		Q53G28	Missense_Mutation	SNP	ENST00000409074.2	37	CCDS9983.2	.	.	.	.	.	.	.	.	.	.	T	17.52	3.411142	0.62399	.	.	ENSG00000256053;ENSG00000256053;ENSG00000256500;ENSG00000256500	ENST00000409074;ENST00000440963;ENST00000472726;ENST00000247618	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.91	5.91	0.95273	.	0.159394	0.46145	D	0.000316	T	0.53786	0.1818	L	0.41710	1.295	0.36293	D	0.856543	D;B	0.53885	0.963;0.238	D;B	0.69824	0.966;0.057	T	0.60188	-0.7312	10	0.40728	T	0.16	.	12.7401	0.57246	0.0:0.0:0.0:1.0	.	164;164	E7EVH7;Q96IL0	.;APOP1_HUMAN	L	164;76;164;151	ENSP00000386485:F164L;ENSP00000388067:F76L;ENSP00000439065:F164L;ENSP00000247618:F151L	ENSP00000247618:F151L	F	+	1	0	C14orf153;RP11-73M18.2	103123429	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.406000	0.52637	2.254000	0.74563	0.533000	0.62120	TTT		0.328	APOPT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333060.2	NM_032374		C	104053676	T	C	104053676	3	2	577	1	0	0	0	0	1	0	0	0	1755	1841	64	3	504	3	C14orf153	14	104053676	Missense_Mutation	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	31998589	104053676	3295864	51	31534											
CCNDBP1	23582	hgsc.bcm.edu	37	15	43478362	43478362	+	Silent	SNP	T	T	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr15:43478362T>A	ENST00000300213.4	+	3	422	c.180T>A	c.(178-180)gcT>gcA	p.A60A	RP11-473C18.3_ENST00000565685.1_RNA|CCNDBP1_ENST00000356633.5_De_novo_Start_OutOfFrame|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	60	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		ATGAGGCAGCTGTGACTGTGT	0.557																																																0													83	76	79					15																	43478362		2203	4299	6502	SO:0001819	synonymous_variant	23582			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"D-type cyclin-interacting protein 1", "MAID protein", "HHM Protein", "grap2 cyclin interacting protein"	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.180T>A	15.37:g.43478362T>A			A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Silent	SNP	ENST00000300213.4	37	CCDS10092.1																																																																																				0.557	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142		A	43478362	T	A	43478362	2	1	577	1	0	0	0	0	0	0	0	1	2921	1567	55	5		5	CCNDBP1	15	43478362	Silent	SNP	T	TCGA-CZ-4862-01A-01D-1373-10		43478362	59053030	52	31535											
PRTG	283659	hgsc.bcm.edu	37	15	56032872	56032872	+	Silent	SNP	G	G	A	rs77118243	byFrequency	TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr15:56032872G>A	ENST00000561292.1	-	2	263	c.105C>T	c.(103-105)tgC>tgT	p.C35C	PRTG_ENST00000389286.4_Silent_p.C35C					protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTTCGCTAAAGCACCACACTC	0.403													G|||	80	0.0159744	0.0023	0.0288	5008	,	,		17906	0.0		0.0467	False		,,,				2504	0.0102															0								G		46,3614		0,46,1784	50	47	48		105	3.9	1	15	dbSNP_132	48	448,7728		16,416,3656	no	coding-synonymous	PRTG	NM_173814.4		16,462,5440	AA,AG,GG		5.4795,1.2568,4.1737		35/1151	56032872	494,11342	1830	4088	5918	SO:0001819	synonymous_variant	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.105C>T	15.37:g.56032872G>A				Silent	SNP	ENST00000561292.1	37																																																																																					0.403	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419360.1	NM_173814		A	56032872	G	A	56032872	2	1	577	1	0	0	0	0	0	0	0	1	12643	963	34	2		2	PRTG	15	56032872	Silent	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	12554510	56032872	46498520	53	31536											
CGNL1	84952	hgsc.bcm.edu	37	15	57816814	57816814	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr15:57816814C>T	ENST00000281282.5	+	12	2982	c.2904C>T	c.(2902-2904)acC>acT	p.T968T	CTD-2515H24.4_ENST00000566990.1_lincRNA	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	968						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GTACCTCAACCCTGGAGCTCC	0.542																																																0													105	108	107					15																	57816814		2192	4292	6484	SO:0001819	synonymous_variant	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2904C>T	15.37:g.57816814C>T			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	CCDS10161.1																																																																																				0.542	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		T	57816814	C	T	57816814	2	4	577	1	0	0	0	0	0	0	0	1	3306	610	22	2		2	CGNL1	15	57816814	Silent	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	1783942	57816814	44714578	54	31537											
BNC1	646	hgsc.bcm.edu	37	15	83933199	83933199	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr15:83933199C>T	ENST00000345382.2	-	4	889	c.804G>A	c.(802-804)caG>caA	p.Q268Q	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.Q261Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	268					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGTCATGACCCTGCTCCAACA	0.488																																																0													92	89	90					15																	83933199		2203	4300	6503	SO:0001819	synonymous_variant	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.804G>A	15.37:g.83933199C>T			Q15840	Silent	SNP	ENST00000345382.2	37	CCDS10324.1																																																																																				0.488	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		T	83933199	C	T	83933199	2	4	577	1	0	0	0	0	0	0	0	1	1474	680	24	2		2	BNC1	15	83933199	Silent	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	26116385	83933199	18598193	55	31538											
ZNF710	374655	hgsc.bcm.edu;ucsc.edu	37	15	90616441	90616441	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr15:90616441A>G	ENST00000268154.4	+	3	1848	c.1597A>G	c.(1597-1599)Act>Gct	p.T533A	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACAGAAGCAGACTCTCAAGAC	0.582																																																0													122	110	114					15																	90616441		2200	4298	6498	SO:0001583	missense	374655			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1597A>G	15.37:g.90616441A>G	ENSP00000268154:p.Thr533Ala		A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621967	0.87460	.	.	ENSG00000140548	ENST00000268154	T	0.06849	3.25	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.068980	0.07394	N	0.889620	T	0.21921	0.0528	L	0.37507	1.11	0.53688	D	0.99997	D	0.76494	0.999	D	0.81914	0.995	T	0.00258	-1.1871	10	0.41790	T	0.15	-43.1345	12.7445	0.57273	1.0:0.0:0.0:0.0	.	533	Q8N1W2	ZN710_HUMAN	A	533	ENSP00000268154:T533A	ENSP00000268154:T533A	T	+	1	0	ZNF710	88417445	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.139000	0.94554	2.106000	0.64143	0.459000	0.35465	ACT		0.582	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		G	90616441	A	G	90616441	3	3	577	1	0	0	0	0	1	0	0	0	18120	275	10	3	1603	3	ZNF710	15	90616441	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	6683242	90616441	11914951	56	31539											
ABCA3	21	hgsc.bcm.edu	37	16	2376045	2376045	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr16:2376045C>G	ENST00000301732.5	-	5	985	c.285G>C	c.(283-285)gaG>gaC	p.E95D	ABCA3_ENST00000382381.3_Missense_Mutation_p.E95D|ABCA3_ENST00000567910.1_Missense_Mutation_p.E95D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	95					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGCGCACTGTCTCAGTGACGG	0.632																																																0													63	62	62					16																	2376045		2198	4300	6498	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.285G>C	16.37:g.2376045C>G	ENSP00000301732:p.Glu95Asp		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548826	0.65311	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90197	-2.63	5.63	2.46	0.29980	.	0.309220	0.34932	N	0.003565	D	0.87803	0.6269	L	0.58428	1.81	0.26813	N	0.968955	P;B;D;P	0.57899	0.494;0.417;0.981;0.462	P;B;P;P	0.46510	0.493;0.411;0.519;0.491	T	0.79662	-0.1710	10	0.38643	T	0.18	.	7.0601	0.25121	0.3057:0.6142:0.0:0.0801	.	95;157;95;95	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	D	95;157	ENSP00000301732:E95D	ENSP00000301732:E95D	E	-	3	2	ABCA3	2316046	0.960000	0.32886	0.011000	0.14972	0.014000	0.08584	2.107000	0.41844	0.268000	0.21939	0.655000	0.94253	GAG		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		G	2376045	C	G	2376045	3	3	577	1	0	0	0	0	1	0	0	0	33	912	32	4	4945	4	ABCA3	16	2376045	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10		2376045	87978708	57	31540											
UBN1	29855	hgsc.bcm.edu	37	16	4924863	4924863	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr16:4924863A>C	ENST00000396658.4	+	14	3155	c.2452A>C	c.(2452-2454)Acg>Ccg	p.T818P	UBN1_ENST00000545171.1_Missense_Mutation_p.T818P|UBN1_ENST00000262376.6_Missense_Mutation_p.T818P|UBN1_ENST00000590769.1_Missense_Mutation_p.T818P	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	818					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAAAAACTTCACGCCCCCATC	0.577																																																0													71	74	73					16																	4924863		2197	4300	6497	SO:0001583	missense	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2452A>C	16.37:g.4924863A>C	ENSP00000379894:p.Thr818Pro		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	6.030	0.373900	0.11409	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.08984	3.03;3.03;3.03	5.28	1.73	0.24493	.	0.096973	0.45361	N	0.000364	T	0.05868	0.0153	L	0.29908	0.895	0.33271	D	0.560952	B;B	0.10296	0.001;0.003	B;B	0.09377	0.004;0.002	T	0.20739	-1.0266	10	0.32370	T	0.25	-6.9911	7.8579	0.29493	0.4494:0.4168:0.0:0.1338	.	818;818	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	P	818	ENSP00000262376:T818P;ENSP00000442379:T818P;ENSP00000379894:T818P	ENSP00000262376:T818P	T	+	1	0	UBN1	4864864	0.995000	0.38212	0.236000	0.24074	0.411000	0.31082	1.805000	0.38883	0.106000	0.17784	-0.460000	0.05396	ACG		0.577	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		C	4924863	A	C	4924863	3	2	577	1	0	0	0	0	1	0	0	0	16897	159	6	5	2506	5	UBN1	16	4924863	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	2548818	4924863	85429890	58	31541											
SPN	6693	hgsc.bcm.edu	37	16	29675507	29675507	+	Missense_Mutation	SNP	C	C	T	rs201256378		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr16:29675507C>T	ENST00000360121.3	+	2	550	c.458C>T	c.(457-459)aCg>aTg	p.T153M	SPN_ENST00000395389.2_Missense_Mutation_p.T153M	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCTGTTACCACGGCAGCTAGC	0.557																																																0													85	82	83					16																	29675507		2197	4300	6497	SO:0001583	missense	6693			J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"CD molecules"	11249	protein-coding gene	gene with protein product	"leukosialin"	182160	"sialophorin (gpL115, leukosialin, CD43)"			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.458C>T	16.37:g.29675507C>T	ENSP00000353238:p.Thr153Met		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797343	0.16327	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.32515	1.45;1.45;1.45	4.56	-8.43	0.00953	.	2.067910	0.02154	N	0.058257	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.14980	-1.0453	10	0.32370	T	0.25	-0.105	8.5644	0.33531	0.2666:0.5634:0.0:0.1701	.	153	P16150	LEUK_HUMAN	M	153	ENSP00000378787:T153M;ENSP00000412907:T153M;ENSP00000353238:T153M	ENSP00000353238:T153M	T	+	2	0	SPN	29583008	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.486000	0.00455	-1.565000	0.01676	-1.076000	0.02234	ACG		0.557	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			T	29675507	C	T	29675507	3	4	577	1	0	0	0	0	1	0	0	0	15078	536	19	1	460	1	SPN	16	29675507	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	24750644	29675507	60679246	59	31542											
MBTPS1	8720	hgsc.bcm.edu	37	16	84089720	84089720	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr16:84089720T>C	ENST00000343411.3	-	22	3347	c.2852A>G	c.(2851-2853)aAg>aGg	p.K951R		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	951					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGAGAGTAGCTTCTGATGTTT	0.458																																																0													105	97	99					16																	84089720		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2852A>G	16.37:g.84089720T>C	ENSP00000344223:p.Lys951Arg		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.707304	0.89018	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.23754	1.89	5.65	5.65	0.86999	.	0.240250	0.40385	N	0.001120	T	0.28566	0.0707	M	0.63843	1.955	0.80722	D	1	P	0.45902	0.868	B	0.38428	0.273	T	0.08330	-1.0727	10	0.48119	T	0.1	-31.1177	15.8909	0.79296	0.0:0.0:0.0:1.0	.	951	Q14703	MBTP1_HUMAN	R	951;396	ENSP00000344223:K951R	ENSP00000344223:K951R	K	-	2	0	MBTPS1	82647221	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.913000	0.87471	2.146000	0.66826	0.533000	0.62120	AAG		0.458	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		C	84089720	T	C	84089720	3	2	577	1	0	0	0	0	1	0	0	0	9363	1609	56	3	314	3	MBTPS1	16	84089720	Missense_Mutation	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	54414213	84089720	6265033	60	31543											
PIK3R5	23533	hgsc.bcm.edu	37	17	8792003	8792003	+	Silent	SNP	C	C	G	rs9915880	byFrequency	TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr17:8792003C>G	ENST00000447110.1	-	10	1225	c.1101G>C	c.(1099-1101)tcG>tcC	p.S367S	PIK3R5_ENST00000584803.1_Silent_p.S367S|PIK3R5_ENST00000581552.1_Silent_p.S367S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	367				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGGCCGGCCCCGAGGCCTGGG	0.627																																					NSCLC(18;589 615 7696 20311 50332)											0													72	75	74					17																	8792003		2203	4300	6503	SO:0001819	synonymous_variant	23533			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1101G>C	17.37:g.8792003C>G			B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	CCDS11147.1																																																																																				0.627	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		G	8792003	C	G	8792003	2	3	577	1	0	0	0	0	0	0	0	1	11924	639	23	4		4	PIK3R5	17	8792003	Silent	SNP	C	TCGA-CZ-4862-01A-01D-1373-10		8792003	72403207	61	31544											
SLC16A5	9121	hgsc.bcm.edu	37	17	73096580	73096580	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr17:73096580C>T	ENST00000450736.2	+	4	1237	c.822C>T	c.(820-822)gcC>gcT	p.A274A	SLC16A5_ENST00000329783.4_Silent_p.A274A|SLC16A5_ENST00000538213.2_Silent_p.A314A|SLC16A5_ENST00000580123.1_Silent_p.A274A			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	274					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGCAGGCAGCCCTCCTCATCT	0.607																																																0													467	394	419					17																	73096580		2203	4300	6503	SO:0001819	synonymous_variant	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.822C>T	17.37:g.73096580C>T			B4E288	Silent	SNP	ENST00000450736.2	37	CCDS11713.1																																																																																				0.607	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		T	73096580	C	T	73096580	2	4	577	1	0	0	0	0	0	0	0	1	14417	610	22	2		2	SLC16A5	17	73096580	Silent	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	64304577	73096580	8098630	62	31545											
NFATC1	4772	hgsc.bcm.edu	37	18	77211777	77211777	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr18:77211777C>T	ENST00000427363.2	+	6	1864	c.1864C>T	c.(1864-1866)Ctg>Ttg	p.L622L	NFATC1_ENST00000253506.5_Silent_p.L622L|NFATC1_ENST00000397790.2_Silent_p.L150L|NFATC1_ENST00000587635.1_Silent_p.S593S|NFATC1_ENST00000318065.5_Silent_p.L609L|NFATC1_ENST00000586434.1_Silent_p.L609L|NFATC1_ENST00000592223.1_Silent_p.L609L|NFATC1_ENST00000542384.1_Silent_p.L622L|NFATC1_ENST00000591814.1_Silent_p.L622L|NFATC1_ENST00000329101.4_Silent_p.L609L|NFATC1_ENST00000545796.1_Silent_p.L150L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	622					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCACAACTTCCTGCAGGACTC	0.622																																					GBM(151;1210 2593 28719 45011)											0													105	102	103					18																	77211777		2203	4300	6503	SO:0001819	synonymous_variant	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1864C>T	18.37:g.77211777C>T			B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37																																																																																					0.622	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		T	77211777	C	T	77211777	2	4	577	1	0	0	0	0	0	0	0	1	10363	680	24	2		2	NFATC1	18	77211777	Silent	SNP	C	TCGA-CZ-4862-01A-01D-1373-10		77211777	865471	63	31546											
ZNF333	84449	hgsc.bcm.edu	37	19	14829458	14829458	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr19:14829458A>C	ENST00000292530.6	+	12	1410	c.1319A>C	c.(1318-1320)cAc>cCc	p.H440P	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.H331P	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CTGATTTTGCACCAGAGAAAC	0.488																																					NSCLC(60;75 1281 16985 25154 29885)											0													58	62	61					19																	14829458		2203	4300	6503	SO:0001583	missense	84449				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1319A>C	19.37:g.14829458A>C	ENSP00000292530:p.His440Pro		Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.460386	0.63401	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	D;D	0.86865	-2.18;-2.18	3.34	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94703	0.8291	H	0.96861	3.895	0.36194	D	0.850241	D	0.89917	1.0	D	0.97110	1.0	D	0.94263	0.7504	9	0.87932	D	0	.	7.8731	0.29578	0.7891:0.2108:0.0:0.0	.	440	Q96JL9	ZN333_HUMAN	P	331;440	ENSP00000439749:H331P;ENSP00000292530:H440P	ENSP00000292530:H440P	H	+	2	0	ZNF333	14690458	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.986000	0.88173	0.469000	0.27268	0.477000	0.44152	CAC		0.488	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		C	14829458	A	C	14829458	3	2	577	1	0	0	0	0	1	0	0	0	17855	159	6	5	1361	5	ZNF333	19	14829458	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10		14829458	44299525	64	31547											
B3GNT8	593	hgsc.bcm.edu	37	19	41932063	41932063	+	IGR	SNP	A	A	G	rs45563938	byFrequency	TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr19:41932063A>G	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Silent_p.S207S|B3GNT8_ENST00000601379.1_5'UTR|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCAGCAGGTCACTGTAGCGAC	0.647													A|||	314	0.0626997	0.0257	0.0778	5008	,	,		15953	0.001		0.1272	False		,,,				2504	0.0992															0								A		167,4239	111.2+/-149.4	4,159,2040	66	67	67		621	-4	0.2	19	dbSNP_127	67	1206,7394	243.9+/-273.3	94,1018,3188	no	coding-synonymous	B3GNT8	NM_198540.2		98,1177,5228	GG,GA,AA		14.0233,3.7903,10.5567		207/398	41932063	1373,11633	2203	4300	6503	SO:0001628	intergenic_variant	374907			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932063A>G			B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	CCDS12581.1																																																																																				0.647	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		G	41932063	A	G	41932063	1	3	577	0	1	0	0	0	0	0	0	0	1263	156	6	3		3	B3GNT8	19	41932063	IGR	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	27102605	41932063	17196920	65	31548											
KIAA0406	9675	hgsc.bcm.edu;ucsc.edu	37	20	36641536	36641536	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr20:36641536C>T	ENST00000373448.2	-	3	921	c.683G>A	c.(682-684)gGt>gAt	p.G228D	TTI1_ENST00000449821.1_Missense_Mutation_p.G228D|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.G228D	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	228					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AATGCTGTGACCTTGTTTAAA	0.413																																																0													139	136	137					20																	36641536		2203	4300	6503	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.683G>A	20.37:g.36641536C>T	ENSP00000362547:p.Gly228Asp		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609495	0.66558	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.16897	2.31;2.31;2.31	5.45	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.35400	-0.9790	10	0.45353	T	0.12	-32.1288	15.4367	0.75152	0.0:0.8609:0.1391:0.0	.	228	O43156	TTI1_HUMAN	D	228	ENSP00000362547:G228D;ENSP00000362546:G228D;ENSP00000407270:G228D	ENSP00000362546:G228D	G	-	2	0	TTI1	36074950	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.127000	0.77210	1.514000	0.48869	0.650000	0.86243	GGT		0.413	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		T	36641536	C	T	36641536	3	4	577	1	0	0	0	0	1	0	0	0	8175	507	18	2	2614	2	KIAA0406	20	36641536	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10		36641536	26383984	66	31549											
ZHX3	23051	hgsc.bcm.edu	37	20	39832082	39832082	+	Missense_Mutation	SNP	A	A	G	rs544646402		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr20:39832082A>G	ENST00000309060.3	-	4	1890	c.1475T>C	c.(1474-1476)cTt>cCt	p.L492P	ZHX3_ENST00000559234.1_Missense_Mutation_p.L492P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.L492P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.L492P|ZHX3_ENST00000544979.2_Missense_Mutation_p.L492P|ZHX3_ENST00000540170.1_Missense_Mutation_p.L492P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	492	Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GCTAGCATCAAGGAAGGCTTG	0.502																																																0													64	61	62					20																	39832082		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1475T>C	20.37:g.39832082A>G	ENSP00000312222:p.Leu492Pro		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	A	9.306	1.054369	0.19907	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.37584	1.19;2.59;2.59;2.37;1.19	5.93	5.93	0.95920	Homeodomain-like (1);	0.137428	0.50627	D	0.000112	T	0.28928	0.0718	L	0.36672	1.1	0.58432	D	0.999999	B;B;B	0.29716	0.059;0.255;0.175	B;B;B	0.29942	0.028;0.109;0.054	T	0.08269	-1.0730	10	0.29301	T	0.29	-13.7234	11.4629	0.50221	0.8658:0.0:0.0:0.1342	.	492;492;492	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	P	492;492;492;492;270;492	ENSP00000312222:L492P;ENSP00000362360:L492P;ENSP00000442290:L492P;ENSP00000443783:L492P;ENSP00000415498:L492P	ENSP00000312222:L492P	L	-	2	0	ZHX3	39265496	1.000000	0.71417	0.962000	0.40283	0.994000	0.84299	4.941000	0.63540	2.271000	0.75665	0.459000	0.35465	CTT		0.502	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		G	39832082	A	G	39832082	3	3	577	1	0	0	0	0	1	0	0	0	17682	72	3	3	1403	3	ZHX3	20	39832082	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	3190546	39832082	23193438	67	31550											
RBM38	55544	hgsc.bcm.edu	37	20	55968368	55968368	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr20:55968368C>G	ENST00000356208.5	+	3	570	c.395C>G	c.(394-396)aCc>aGc	p.T132S	RBM38_ENST00000371219.2_Missense_Mutation_p.T51S|RBM38_ENST00000440234.2_Intron|RP4-800J21.3_ENST00000417346.1_RNA	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	132					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CTGCACCCCACCTTGATCCAG	0.592																																																0													139	148	145					20																	55968368		2004	4157	6161	SO:0001583	missense	55544			X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"RNA binding motif (RRM) containing"	15818	protein-coding gene	gene with protein product		612428	"RNA-binding region (RNP1, RRM) containing 1"	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.395C>G	20.37:g.55968368C>G	ENSP00000348538:p.Thr132Ser		A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462387	0.63513	.	.	ENSG00000132819	ENST00000356208;ENST00000371219	T;T	0.18657	2.75;2.2	4.81	4.81	0.61882	.	0.172715	0.50627	D	0.000111	T	0.17789	0.0427	L	0.38175	1.15	0.51233	D	0.999912	B	0.17268	0.021	B	0.17098	0.017	T	0.05886	-1.0858	10	0.09590	T	0.72	-0.3411	17.4641	0.87627	0.0:1.0:0.0:0.0	.	132	Q9H0Z9	RBM38_HUMAN	S	132;51	ENSP00000348538:T132S;ENSP00000360263:T51S	ENSP00000345248:T109S	T	+	2	0	RBM38	55401774	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	7.064000	0.76721	2.191000	0.70037	0.655000	0.94253	ACC		0.592	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		G	55968368	C	G	55968368	3	3	577	1	0	0	0	0	1	0	0	0	13138	507	18	4	164	4	RBM38	20	55968368	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	16136286	55968368	7057152	68	31551											
CRYAA	1409	hgsc.bcm.edu;ucsc.edu	37	21	44589294	44589294	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr21:44589294G>A	ENST00000291554.2	+	1	177	c.85G>A	c.(85-87)Gag>Aag	p.E29K	CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398133.1_5'Flank	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	29					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GTTTTTCGGCGAGGGCCTTTT	0.612																																																0													150	150	150					21																	44589294		2203	4300	6503	SO:0001583	missense	1409				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"Heat shock proteins / HSPB"	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.85G>A	21.37:g.44589294G>A	ENSP00000291554:p.Glu29Lys		Q53X53	Missense_Mutation	SNP	ENST00000291554.2	37	CCDS13695.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384541	0.95967	.	.	ENSG00000160202	ENST00000291554	D	0.93019	-3.15	4.88	4.88	0.63580	Alpha-crystallin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97210	0.9088	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97978	1.0347	10	0.66056	D	0.02	-33.7397	18.0021	0.89200	0.0:0.0:1.0:0.0	.	29	P02489	CRYAA_HUMAN	K	29	ENSP00000291554:E29K	ENSP00000291554:E29K	E	+	1	0	CRYAA	43462363	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.858000	0.92256	2.256000	0.74724	0.609000	0.83330	GAG		0.612	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			A	44589294	G	A	44589294	3	1	577	1	0	0	0	0	1	0	0	0	3907	1059	37	1	87	1	CRYAA	21	44589294	Missense_Mutation	SNP	G	TCGA-CZ-4862-01A-01D-1373-10		44589294	3540601	69	31552											
SAMM50	25813	hgsc.bcm.edu;ucsc.edu	37	22	44386258	44386258	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr22:44386258G>A	ENST00000350028.4	+	14	1493	c.1336G>A	c.(1336-1338)Gtc>Atc	p.V446I	SAMM50_ENST00000396202.3_Missense_Mutation_p.V236I	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	446					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TAATTACTGCGTCCCCATGGG	0.498																																																0													149	111	124					22																	44386258		2203	4300	6503	SO:0001583	missense	25813			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1336G>A	22.37:g.44386258G>A	ENSP00000345445:p.Val446Ile		Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	G	4.430	0.079636	0.08533	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.39997	1.05;1.05	4.87	-3.07	0.05363	Bacterial surface antigen (D15) (1);	0.388882	0.30168	N	0.010253	T	0.18635	0.0447	N	0.16307	0.4	0.28260	N	0.924896	B;B	0.10296	0.003;0.001	B;B	0.15484	0.013;0.003	T	0.26677	-1.0096	10	0.12430	T	0.62	-8.4743	7.4482	0.27223	0.4547:0.0:0.4294:0.1159	.	251;446	B3KUE6;Q9Y512	.;SAM50_HUMAN	I	446;236	ENSP00000345445:V446I;ENSP00000379505:V236I	ENSP00000345445:V446I	V	+	1	0	SAMM50	42717591	0.846000	0.29590	0.942000	0.38095	0.770000	0.43624	0.233000	0.17911	-0.606000	0.05746	-1.068000	0.02270	GTC		0.498	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		A	44386258	G	A	44386258	3	1	577	1	0	0	0	0	1	0	0	0	13835	1145	40	1	1390	1	SAMM50	22	44386258	Missense_Mutation	SNP	G	TCGA-CZ-4862-01A-01D-1373-10		44386258	6918308	70	31553											
PKDREJ	10343	hgsc.bcm.edu	37	22	46656257	46656257	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr22:46656257T>C	ENST00000253255.5	-	1	2962	c.2963A>G	c.(2962-2964)cAa>cGa	p.Q988R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	988					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCTGTCCACTTGAAAGCTAAA	0.493																																																0													149	142	144					22																	46656257		2203	4300	6503	SO:0001583	missense	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2963A>G	22.37:g.46656257T>C	ENSP00000253255:p.Gln988Arg		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	9.931	1.214904	0.22373	.	.	ENSG00000130943	ENST00000253255	T	0.35236	1.32	5.18	1.52	0.23074	.	0.695000	0.12914	N	0.428701	T	0.19967	0.0480	N	0.22421	0.69	0.09310	N	0.999993	B	0.27068	0.167	B	0.21360	0.034	T	0.21042	-1.0257	10	0.20046	T	0.44	-8.2276	7.145	0.25577	0.2504:0.0:0.1301:0.6195	.	988	Q9NTG1	PKDRE_HUMAN	R	988	ENSP00000253255:Q988R	ENSP00000253255:Q988R	Q	-	2	0	PKDREJ	45034921	0.070000	0.21116	0.768000	0.31515	0.643000	0.38383	1.164000	0.31810	0.346000	0.23899	0.533000	0.62120	CAA		0.493	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		C	46656257	T	C	46656257	3	2	577	1	0	0	0	0	1	0	0	0	11972	1812	63	3	3802	3	PKDREJ	22	46656257	Missense_Mutation	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	2269999	46656257	4648309	71	31554											
HDAC10	83933	hgsc.bcm.edu	37	22	50685379	50685379	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr22:50685379G>A	ENST00000216271.5	-	15	1791	c.1439C>T	c.(1438-1440)gCa>gTa	p.A480V	HDAC10_ENST00000349505.4_Missense_Mutation_p.A460V|TUBGCP6_ENST00000439308.2_5'Flank|TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A430V|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	480					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGAGTGGCTGCTATACCACT	0.562																																																0													36	33	34					22																	50685379		2201	4299	6500	SO:0001583	missense	83933			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1439C>T	22.37:g.50685379G>A	ENSP00000216271:p.Ala480Val		Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	G	9.437	1.086986	0.20390	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.28666	1.6;1.6;1.6	4.88	-1.2	0.09554	.	0.908929	0.09404	N	0.806835	T	0.21227	0.0511	L	0.40543	1.245	0.18873	N	0.999989	B;B;B;B	0.25904	0.034;0.02;0.137;0.02	B;B;B;B	0.24541	0.034;0.025;0.054;0.015	T	0.30387	-0.9980	10	0.54805	T	0.06	-0.4237	4.4307	0.11525	0.3648:0.1584:0.4768:0.0	.	460;430;480;480	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	V	480;430;460	ENSP00000216271:A480V;ENSP00000397542:A430V;ENSP00000343540:A460V	ENSP00000216271:A480V	A	-	2	0	HDAC10	49027506	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.454000	0.21827	0.077000	0.16863	-0.812000	0.03155	GCA		0.562	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		A	50685379	G	A	50685379	3	1	577	1	0	0	0	0	1	0	0	0	7007	1319	46	2	594	2	HDAC10	22	50685379	Missense_Mutation	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	4029122	50685379	619187	72	31555											
ARSD	414	hgsc.bcm.edu	37	X	2835993	2835993	+	Silent	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:2835993G>A	ENST00000381154.1	-	5	790	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	239					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGAAAAACAGGCAGCCCACG	0.592													g|||	14	0.00370861	0.0061	0.0	3775	,	,		13699	0.0		0.001	False		,,,				2504	0.0051															0													31	34	33					X																	2835993		2203	4300	6503	SO:0001819	synonymous_variant	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.715C>T	X.37:g.2835993G>A			Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																				0.592	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			A	2835993	G	A	2835993	2	1	577	1	0	0	0	0	0	0	0	1	989	991	35	2		2	ARSD	23	2835993	Silent	SNP	G	TCGA-CZ-4862-01A-01D-1373-10		2835993	152434567	73	31556	233	2	1	50		4	3	55	N	G_C	9.55585e-09
ARSD	414	hgsc.bcm.edu	37	X	2835995	2835995	+	Missense_Mutation	SNP	C	C	A	rs150899882		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:2835995C>A	ENST00000381154.1	-	5	788	c.713G>T	c.(712-714)tGc>tTc	p.C238F	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	238					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAAAACAGGCAGCCCACGCC	0.592																																																0													30	33	32					X																	2835995		2203	4300	6503	SO:0001583	missense	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.713G>T	X.37:g.2835995C>A	ENSP00000370546:p.Cys238Phe		Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	a	0.009	-1.837745	0.00573	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93247	-3.19	3.34	0.742	0.18341	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.493620	0.18401	N	0.142380	T	0.68412	0.2998	N	0.00237	-1.79	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65911	-0.6053	10	0.02654	T	1	.	6.2103	0.20626	0.4247:0.4702:0.1051:0.0	.	238;238	E9PAW5;P51689	.;ARSD_HUMAN	F	238	ENSP00000370546:C238F	ENSP00000217890:C238F	C	-	2	0	ARSD	2845995	0.001000	0.12720	0.002000	0.10522	0.031000	0.12232	1.483000	0.35497	-0.693000	0.05121	-1.290000	0.01357	TGC		0.592	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			A	2835995	C	A	2835995	3	1	577	1	0	0	0	0	1	0	0	0	989	710	25	4	1245	4	ARSD	23	2835995	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	2	2835995	152434565	74	31557	233	2	1	50		4	3	55	N	G_C	9.55585e-09
ARSD	414	hgsc.bcm.edu	37	X	2836007	2836007	+	Missense_Mutation	SNP	G	G	C	rs113556864		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:2836007G>C	ENST00000381154.1	-	5	776	c.701C>G	c.(700-702)gCc>gGc	p.A234G	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	234					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCACGCCGGCCATGCCGGT	0.592																																																0													23	26	25					X																	2836007		2203	4300	6503	SO:0001583	missense	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.701C>G	X.37:g.2836007G>C	ENSP00000370546:p.Ala234Gly		Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	g	5.944	0.358234	0.11239	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93953	-3.32	2.91	1.73	0.24493	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.954305	0.08621	U	0.918475	D	0.93151	0.7819	M	0.87971	2.92	0.09310	N	1	B;B	0.17038	0.02;0.02	B;B	0.24006	0.044;0.05	D	0.84722	0.0740	10	0.34782	T	0.22	.	8.3904	0.32524	0.2179:0.0:0.7821:0.0	.	234;234	E9PAW5;P51689	.;ARSD_HUMAN	G	234	ENSP00000370546:A234G	ENSP00000217890:A234G	A	-	2	0	ARSD	2846007	0.005000	0.15991	0.004000	0.12327	0.014000	0.08584	1.484000	0.35508	1.119000	0.41883	0.273000	0.19326	GCC		0.592	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			C	2836007	G	C	2836007	3	2	577	1	0	0	0	0	1	0	0	0	989	1203	42	4	1257	4	ARSD	23	2836007	Missense_Mutation	SNP	G	TCGA-CZ-4862-01A-01D-1373-10	12	2836007	152434553	75	31558			1	50		4	3	55	N	G_C	9.55585e-09
ARSD	414	hgsc.bcm.edu	37	X	2836047	2836047	+	Missense_Mutation	SNP	C	C	T	rs67359049		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:2836047C>T	ENST00000381154.1	-	5	736	c.661G>A	c.(661-663)Ggt>Agt	p.G221S	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	221					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGAAGAAACCGCAGGTCTGG	0.652																																																0													17	22	20					X																	2836047		2202	4298	6500	SO:0001583	missense	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.661G>A	X.37:g.2836047C>T	ENSP00000370546:p.Gly221Ser		Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	102	0.06148282097649186	36	0.0782608695652174	20	0.055865921787709494	33	0.05871886120996441	55	0.07412398921832884	c	15.90	2.969913	0.53614	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93659	-3.26	3.47	2.6	0.31112	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	U	0.000004	T	0.64349	0.2590	M	0.80847	2.515	0.09310	N	1	D;D	0.76494	0.999;0.994	D;P	0.66351	0.943;0.812	T	0.73418	-0.3989	10	0.42905	T	0.14	.	7.3482	0.26676	0.0:0.7823:0.0:0.2177	.	221;221	E9PAW5;P51689	.;ARSD_HUMAN	S	221	ENSP00000370546:G221S	ENSP00000217890:G221S	G	-	1	0	ARSD	2846047	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.249000	0.08842	0.383000	0.24910	-0.454000	0.05498	GGT		0.652	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			T	2836047	C	T	2836047	3	4	577	1	0	0	0	0	1	0	0	0	989	652	23	1	1297	1	ARSD	23	2836047	Missense_Mutation	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	40	2836047	152434513	76	31559			1	50		4	3	55	N	G_C	9.55585e-09
DMD	1756	hgsc.bcm.edu	37	X	31496341	31496341	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:31496341T>G	ENST00000357033.4	-	59	9025	c.8819A>C	c.(8818-8820)cAa>cCa	p.Q2940P	DMD_ENST00000474231.1_Missense_Mutation_p.Q480P|DMD_ENST00000343523.2_Missense_Mutation_p.Q480P|DMD_ENST00000445312.1_5'Flank|DMD_ENST00000378677.2_Missense_Mutation_p.Q2936P|DMD_ENST00000541735.1_Missense_Mutation_p.Q480P|DMD_ENST00000378707.3_Missense_Mutation_p.Q480P|DMD_ENST00000359836.1_Missense_Mutation_p.Q480P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2940					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGTGGCCTCTTGAAGTTCCCG	0.537																																																0													63	51	55					X																	31496341		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8819A>C	X.37:g.31496341T>G	ENSP00000354923:p.Gln2940Pro		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856257	0.71834	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.4	5.4	0.78164	.	0.000000	0.35585	U	0.003106	T	0.69396	0.3106	M	0.76838	2.35	0.58432	D	0.999999	P;D;D;D;D;D;D;D;D;P;D	0.76494	0.832;0.999;0.999;0.999;0.999;0.997;0.999;0.999;0.963;0.955;0.998	P;D;D;D;D;D;D;D;P;P;D	0.83275	0.871;0.966;0.996;0.966;0.977;0.976;0.979;0.979;0.691;0.564;0.974	T	0.73943	-0.3823	10	0.72032	D	0.01	.	14.6815	0.69020	0.0:0.0:0.0:1.0	.	2932;2940;2936;1599;1596;480;480;480;480;480;2817	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	P	2932;1599;1596;636;2936;2940;480;480;2940;2817;480;480;480	ENSP00000350765:Q636P;ENSP00000367948:Q2936P;ENSP00000354923:Q2940P;ENSP00000352894:Q480P;ENSP00000340057:Q480P;ENSP00000367979:Q480P;ENSP00000444119:Q480P;ENSP00000417123:Q480P	ENSP00000340057:Q480P	Q	-	2	0	DMD	31406262	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.655000	0.83696	1.916000	0.55485	0.430000	0.28490	CAA		0.537	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		G	31496341	T	G	31496341	3	3	577	1	0	0	0	0	1	0	0	0	4582	1812	63	5	2436	5	DMD	23	31496341	Missense_Mutation	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	28660294	31496341	123774219	77	31560											
HUWE1	10075	hgsc.bcm.edu	37	X	53577912	53577912	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:53577912A>T	ENST00000342160.3	-	64	9792	c.9335T>A	c.(9334-9336)cTg>cAg	p.L3112Q	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.L3112Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3112					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTGCCCAAACAGACGCTCATG	0.577																																																0													62	45	51					X																	53577912		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9335T>A	X.37:g.53577912A>T	ENSP00000340648:p.Leu3112Gln		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319530	0.60524	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.45668	0.89;0.89	5.75	5.75	0.90469	.	0.087890	0.45361	D	0.000378	T	0.56046	0.1959	L	0.57536	1.79	0.58432	D	0.999994	D;D	0.58620	0.971;0.983	P;P	0.58331	0.691;0.837	T	0.57888	-0.7733	10	0.54805	T	0.06	.	13.9436	0.64071	1.0:0.0:0.0:0.0	.	3112;3096	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	3112	ENSP00000340648:L3112Q;ENSP00000262854:L3112Q	ENSP00000262854:L3112Q	L	-	2	0	HUWE1	53594637	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.490000	0.90464	1.937000	0.56155	0.417000	0.27973	CTG		0.577	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53577912	A	T	53577912	3	4	577	1	0	0	0	0	1	0	0	0	7463	188	7	5	3869	5	HUWE1	23	53577912	Missense_Mutation	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	22081571	53577912	101692648	78	31561											
LRCH2	57631	hgsc.bcm.edu	37	X	114357118	114357118	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:114357118T>C	ENST00000317135.8	-	20	2180	c.2150A>G	c.(2149-2151)gAt>gGt	p.D717G	LRCH2_ENST00000538422.1_Missense_Mutation_p.D700G	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	717	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTTACAAGCATCAAGAAAATT	0.328																																																0													92	78	82					X																	114357118		1821	4071	5892	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2150A>G	X.37:g.114357118T>C	ENSP00000325091:p.Asp717Gly		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887328	0.72410	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.95238	-3.65;-3.65	5.37	5.37	0.77165	Calponin homology domain (5);	0.052453	0.85682	D	0.000000	D	0.96228	0.8770	L	0.59436	1.845	0.58432	D	0.999999	D;B	0.76494	0.999;0.041	D;B	0.85130	0.997;0.087	D	0.96607	0.9449	10	0.87932	D	0	-18.2758	13.1767	0.59630	0.0:0.0:0.0:1.0	.	717;700	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	G	717;196;700	ENSP00000325091:D717G;ENSP00000439366:D700G	ENSP00000325091:D717G	D	-	2	0	LRCH2	114263374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.326000	0.79133	1.993000	0.58246	0.441000	0.28932	GAT		0.328	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		C	114357118	T	C	114357118	3	2	577	1	0	0	0	0	1	0	0	0	8935	1435	50	3	155	3	LRCH2	23	114357118	Missense_Mutation	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	60779206	114357118	40913442	79	31562	234	2									
LRCH2	57631	hgsc.bcm.edu	37	X	114357120	114357120	+	Silent	SNP	A	A	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:114357120A>T	ENST00000317135.8	-	20	2178	c.2148T>A	c.(2146-2148)ctT>ctA	p.L716L	LRCH2_ENST00000538422.1_Silent_p.L699L	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	716	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TACAAGCATCAAGAAAATTTT	0.328																																																0													91	78	82					X																	114357120		1818	4070	5888	SO:0001819	synonymous_variant	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2148T>A	X.37:g.114357120A>T			F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	ENST00000317135.8	37	CCDS48155.1																																																																																				0.328	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		T	114357120	A	T	114357120	2	4	577	1	0	0	0	0	0	0	0	1	8935	117	5	5		5	LRCH2	23	114357120	Silent	SNP	A	TCGA-CZ-4862-01A-01D-1373-10	2	114357120	40913440	80	31563	234	2									
MAGEC1	9947	hgsc.bcm.edu	37	X	140993864	140993864	+	Missense_Mutation	SNP	T	T	C	rs34836042		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:140993864T>C	ENST00000285879.4	+	4	960	c.674T>C	c.(673-675)tTt>tCt	p.F225S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	225				TQSTF -> SQRTS (in Ref. 1 and 2). {ECO:0000305}.						breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTACTTTTGAGGGTTTT	0.498										HNSCC(15;0.026)																																						0													110	112	111					X																	140993864		2202	4290	6492	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.674T>C	X.37:g.140993864T>C	ENSP00000285879:p.Phe225Ser		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	1.164	-0.643046	0.03531	.	.	ENSG00000155495	ENST00000285879	T	0.02177	4.41	.	.	.	.	.	.	.	.	T	0.00936	0.0031	N	0.08118	0	0.80722	P	0.0	B	0.09022	0.002	B	0.01281	0.0	T	0.45352	-0.9267	7	0.06494	T	0.89	.	3.926	0.09263	0.0:0.3344:0.0:0.6656	rs55909043	225	O60732	MAGC1_HUMAN	S	225	ENSP00000285879:F225S	ENSP00000285879:F225S	F	+	2	0	MAGEC1	140821530	0.003000	0.15002	0.015000	0.15790	0.015000	0.08874	-1.226000	0.02953	-2.202000	0.00745	-2.195000	0.00310	TTT		0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		C	140993864	T	C	140993864	3	2	577	1	0	0	0	0	1	0	0	0	9182	1841	64	3	680	3	MAGEC1	23	140993864	Missense_Mutation	SNP	T	TCGA-CZ-4862-01A-01D-1373-10	26636744	140993864	14276696	81	31564											
EMD	2010	hgsc.bcm.edu	37	X	153609311	153609311	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:153609311C>T	ENST00000369842.4	+	6	807	c.519C>T	c.(517-519)tcC>tcT	p.S173S	EMD_ENST00000369835.3_Silent_p.S138S|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	173	Interaction with CTNNB1.|Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTCAGCCTCCAGGAGCTCCC	0.587																																																0													130	86	101					X																	153609311		2203	4300	6503	SO:0001819	synonymous_variant	2010			X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"LEM domain containing 5"	300384	"Emery-Dreifuss muscular dystrophy"				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.519C>T	X.37:g.153609311C>T			Q6FI02	Silent	SNP	ENST00000369842.4	37	CCDS14745.1																																																																																				0.587	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			T	153609311	C	T	153609311	2	4	577	1	0	0	0	0	0	0	0	1	5089	581	21	2		2	EMD	23	153609311	Silent	SNP	C	TCGA-CZ-4862-01A-01D-1373-10	12615447	153609311	1661249	82	31565											
MYCL1	4610	broad.mit.edu;hgsc.bcm.edu	37	1	40363317	40363317	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr1:40363317A>C	ENST00000372816.2	-	2	1269	c.822T>G	c.(820-822)agT>agG	p.S274R	MYCL_ENST00000397332.2_Missense_Mutation_p.S304R|RP1-118J21.5_ENST00000418255.1_RNA			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	274						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S304R(1)									CAGTATCAGAACTGACAGGTT	0.547																																																1	Substitution - Missense(1)	kidney(1)											109	108	108					1																	40363317		2203	4300	6503	SO:0001583	missense	4610				CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"Basic helix-loop-helix proteins"	7555	protein-coding gene	gene with protein product	"l-myc protein", "myc-related gene from lung cancer", "oncogene lmyc"	164850	"v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.822T>G	1.37:g.40363317A>C	ENSP00000361903:p.Ser274Arg		A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	ENST00000372816.2	37	CCDS30682.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.560809	0.27827	.	.	ENSG00000116990	ENST00000397332;ENST00000372816	T;T	0.79845	-1.11;-1.31	5.91	2.46	0.29980	.	2.201000	0.01409	N	0.013911	T	0.72285	0.3441	N	0.24115	0.695	0.80722	D	1	B	0.16396	0.017	B	0.14023	0.01	T	0.52823	-0.8524	10	0.46703	T	0.11	-8.0581	8.7383	0.34541	0.7064:0.0:0.2936:0.0	.	274	P12524	MYCL1_HUMAN	R	304;274	ENSP00000380494:S304R;ENSP00000361903:S274R	ENSP00000361903:S274R	S	-	3	2	MYCL1	40135904	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	0.799000	0.27028	0.515000	0.28320	0.533000	0.62120	AGT		0.547	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082		C	40363317	A	C	40363317	3	2	578	1	0	0	0	0	1	0	0	0	10022	40	2	5	276	5	MYCL1	1	40363317	Missense_Mutation	SNP	A	TCGA-CZ-4863-01A-01D-1501-10		40363317	208887304	1	31566											
ORC1L	4998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	52849596	52849596	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr1:52849596T>C	ENST00000371568.3	-	12	1987	c.1769A>G	c.(1768-1770)cAa>cGa	p.Q590R	ORC1_ENST00000371566.1_Missense_Mutation_p.Q590R	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	590	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q590R(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGTTGCTTTTTGGCCTGTTAG	0.507																																																1	Substitution - Missense(1)	kidney(1)											149	133	138					1																	52849596		2203	4300	6503	SO:0001583	missense	4998				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1769A>G	1.37:g.52849596T>C	ENSP00000360623:p.Gln590Arg		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839949	0.71488	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.55930	0.49;0.49	5.84	5.84	0.93424	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.099124	0.64402	D	0.000001	T	0.54983	0.1892	L	0.49126	1.545	0.80722	D	1	B;B	0.33549	0.417;0.417	B;B	0.39935	0.314;0.314	T	0.58154	-0.7686	10	0.72032	D	0.01	-3.2765	16.2033	0.82103	0.0:0.0:0.0:1.0	.	585;590	B7Z8H0;Q13415	.;ORC1_HUMAN	R	590	ENSP00000360623:Q590R;ENSP00000360621:Q590R	ENSP00000360621:Q590R	Q	-	2	0	ORC1	52622184	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.662000	0.83803	2.223000	0.72356	0.460000	0.39030	CAA		0.507	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		C	52849596	T	C	52849596	3	2	578	1	0	0	0	0	1	0	0	0	11263	1812	63	3	840	3	ORC1L	1	52849596	Missense_Mutation	SNP	T	TCGA-CZ-4863-01A-01D-1501-10	12486279	52849596	196401025	2	31567											
TNNI3K	100144878	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	74954920	74954920	+	Intron	SNP	C	C	G			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr1:74954920C>G	ENST00000294635.4	-	2	89				TNNI3K_ENST00000370891.2_Silent_p.L824L|TNNI3K_ENST00000326637.3_Silent_p.L723L|FPGT-TNNI3K_ENST00000557284.2_Silent_p.L837L			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)		p.L723L(1)		NS(1)|breast(1)|lung(2)	4						AAGAGTGTCTCTGCAACATTG	0.383																																																1	Substitution - coding silent(1)	kidney(1)											75	86	82					1																	74954920		2203	4300	6503	SO:0001627	intron_variant	51086					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-5861G>C	1.37:g.74954920C>G				Silent	SNP	ENST00000294635.4	37																																																																																					0.383	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			G	74954920	C	G	74954920	1	3	578	0	1	0	0	0	0	0	0	0	16334	900	32	4		4	TNNI3K	1	74954920	Intron	SNP	C	TCGA-CZ-4863-01A-01D-1501-10	22105324	74954920	174295701	3	31568											
PKN2	5586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	89271212	89271212	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr1:89271212A>G	ENST00000370521.3	+	11	1893	c.1534A>G	c.(1534-1536)Att>Gtt	p.I512V	PKN2_ENST00000316005.7_Missense_Mutation_p.I512V|PKN2_ENST00000370505.3_Missense_Mutation_p.I355V|PKN2_ENST00000370513.5_Missense_Mutation_p.I464V|PKN2_ENST00000544045.1_Missense_Mutation_p.I186V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	512					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.I512V(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCAAATGAATATTAATATTGC	0.373																																																2	Substitution - Missense(2)	kidney(2)											64	62	62					1																	89271212		1864	4087	5951	SO:0001583	missense	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1534A>G	1.37:g.89271212A>G	ENSP00000359552:p.Ile512Val		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	CCDS714.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419233	0.42918	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	6.02	6.02	0.97574	.	0.000000	0.45361	U	0.000362	T	0.52533	0.1740	L	0.58101	1.795	0.53005	D	0.999961	B;B;D;P	0.59357	0.303;0.189;0.985;0.937	B;B;D;B	0.67548	0.134;0.134;0.952;0.38	T	0.53514	-0.8428	10	0.52906	T	0.07	.	16.5311	0.84359	1.0:0.0:0.0:0.0	.	496;464;512;512	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	V	512;512;355;464;186	ENSP00000359552:I512V;ENSP00000317851:I512V;ENSP00000359536:I355V;ENSP00000359544:I464V;ENSP00000439643:I186V	ENSP00000317851:I512V	I	+	1	0	PKN2	89043800	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.864000	0.75494	2.306000	0.77630	0.482000	0.46254	ATT		0.373	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		G	89271212	A	G	89271212	3	3	578	1	0	0	0	0	1	0	0	0	11982	449	16	3	1576	3	PKN2	1	89271212	Missense_Mutation	SNP	A	TCGA-CZ-4863-01A-01D-1501-10	14316292	89271212	159979409	4	31569											
PALMD	54873	broad.mit.edu;ucsc.edu	37	1	100155420	100155420	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr1:100155420C>T	ENST00000263174.4	+	7	1979	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	PALMD_ENST00000605497.1_Missense_Mutation_p.S535F	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	535					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.S535F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GAGGATCCATCCTTAACAGGT	0.463																																																1	Substitution - Missense(1)	kidney(1)											47	47	47					1																	100155420		2191	4285	6476	SO:0001583	missense	54873			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1604C>T	1.37:g.100155420C>T	ENSP00000263174:p.Ser535Phe		Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	CCDS758.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558546	0.65538	.	.	ENSG00000099260	ENST00000263174	T	0.31247	1.5	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000003	T	0.48960	0.1529	M	0.63843	1.955	0.52099	D	0.999941	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.50499	-0.8821	10	0.87932	D	0	-7.9822	19.415	0.94690	0.0:1.0:0.0:0.0	.	535;455	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	F	535	ENSP00000263174:S535F	ENSP00000263174:S535F	S	+	2	0	PALMD	99928008	0.998000	0.40836	0.755000	0.31263	0.762000	0.43233	5.677000	0.68142	2.577000	0.86979	0.563000	0.77884	TCC		0.463	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		T	100155420	C	T	100155420	3	4	578	1	0	0	0	0	1	0	0	0	11413	855	30	2	1630	2	PALMD	1	100155420	Missense_Mutation	SNP	C	TCGA-CZ-4863-01A-01D-1501-10	10884208	100155420	149095201	5	31570											
ATP1A1	476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	116932958	116932958	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr1:116932958C>A	ENST00000295598.5	+	9	1399	c.1147C>A	c.(1147-1149)Cag>Aag	p.Q383K	ATP1A1_ENST00000369496.4_Missense_Mutation_p.Q352K|ATP1A1_ENST00000537345.1_Missense_Mutation_p.Q383K	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	383					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.Q383K(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AACTCTGACTCAGAACCGGAT	0.488																																																1	Substitution - Missense(1)	kidney(1)											85	75	79					1																	116932958		2203	4300	6503	SO:0001583	missense	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1147C>A	1.37:g.116932958C>A	ENSP00000295598:p.Gln383Lys		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300163	0.95574	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	T;T;T	0.80653	-1.4;-1.4;-1.4	4.87	4.87	0.63330	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.86439	0.5933	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.995;0.996	D	0.87620	0.2509	10	0.87932	D	0	.	18.2082	0.89861	0.0:1.0:0.0:0.0	.	383;383	F5H3A1;P05023	.;AT1A1_HUMAN	K	383;383;382;352	ENSP00000295598:Q383K;ENSP00000445306:Q383K;ENSP00000358508:Q352K	ENSP00000295598:Q383K	Q	+	1	0	ATP1A1	116734481	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.640000	0.83355	2.558000	0.86282	0.650000	0.86243	CAG		0.488	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		A	116932958	C	A	116932958	3	1	578	1	0	0	0	0	1	0	0	0	1128	827	29	4	1197	4	ATP1A1	1	116932958	Missense_Mutation	SNP	C	TCGA-CZ-4863-01A-01D-1501-10	16777538	116932958	132317663	6	31571											
SLC19A2	10560	hgsc.bcm.edu;ucsc.edu	37	1	169437458	169437458	+	Frame_Shift_Del	DEL	C	C	-	rs530420883		TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr1:169437458delC	ENST00000236137.5	-	5	1492	c.1256delG	c.(1255-1257)cgcfs	p.R419fs	SLC19A2_ENST00000367804.4_Frame_Shift_Del_p.R218fs	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	419					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	TAGGGCATAGCGTTCCATGCT	0.358																																																0													87	77	81					1																	169437458		2203	4300	6503	SO:0001589	frameshift_variant	10560			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1256delG	1.37:g.169437458delC	ENSP00000236137:p.Arg419fs		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Frame_Shift_Del	DEL	ENST00000236137.5	37	CCDS1280.1																																																																																				0.358	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		-	169437458	C	-	169437458	7	5	578	1	0	1	0	1	0	0	0	0	14435	768	27	0	245	0	SLC19A2	1	169437458	Frame_Shift_Del	DEL	C	TCGA-CZ-4863-01A-01D-1501-10	52504500	169437458	79813163	7	31572											
TNR	7143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	175348829	175348829	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr1:175348829T>C	ENST00000367674.2	-	9	2530	c.1822A>G	c.(1822-1824)Acc>Gcc	p.T608A	TNR_ENST00000263525.2_Missense_Mutation_p.T608A			Q92752	TENR_HUMAN	tenascin R	608	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.T608A(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAAGGCTGGTTGCTGTGCGA	0.478																																																1	Substitution - Missense(1)	kidney(1)											107	81	90					1																	175348829		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1822A>G	1.37:g.175348829T>C	ENSP00000356646:p.Thr608Ala		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461170	0.43736	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.61627	0.09;0.09	5.44	5.44	0.79542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.118551	0.56097	D	0.000027	T	0.50990	0.1648	M	0.76328	2.33	0.33717	D	0.616548	B	0.06786	0.001	B	0.09377	0.004	T	0.57376	-0.7822	10	0.25106	T	0.35	.	4.0482	0.09783	0.1728:0.1204:0.0:0.7068	.	608	Q92752	TENR_HUMAN	A	608	ENSP00000356646:T608A;ENSP00000263525:T608A	ENSP00000263525:T608A	T	-	1	0	TNR	173615452	0.993000	0.37304	0.996000	0.52242	0.958000	0.62258	2.444000	0.44890	2.053000	0.61076	0.533000	0.62120	ACC		0.478	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		C	175348829	T	C	175348829	3	2	578	1	0	0	0	0	1	0	0	0	16343	1725	60	3	2314	3	TNR	1	175348829	Missense_Mutation	SNP	T	TCGA-CZ-4863-01A-01D-1501-10	5911371	175348829	73901792	8	31573											
SUCLG1	8802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	84660489	84660489	+	Silent	SNP	C	C	T			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr2:84660489C>T	ENST00000393868.2	-	6	870	c.660G>A	c.(658-660)caG>caA	p.Q220Q	SUCLG1_ENST00000491123.1_5'Flank	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	220					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.Q220Q(1)		kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CGCACAAAGACTGCCCCAATC	0.368																																					Ovarian(48;203 1101 37206 40305 50790)											1	Substitution - coding silent(1)	kidney(1)											78	71	73					2																	84660489		2203	4300	6503	SO:0001819	synonymous_variant	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.660G>A	2.37:g.84660489C>T			Q9BWB0|Q9UNP6	Silent	SNP	ENST00000393868.2	37	CCDS1967.2																																																																																				0.368	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		T	84660489	C	T	84660489	2	4	578	1	0	0	0	0	0	0	0	1	15369	564	20	2		2	SUCLG1	2	84660489	Silent	SNP	C	TCGA-CZ-4863-01A-01D-1501-10		84660489	158538884	9	31574											
LY75	4065	hgsc.bcm.edu;ucsc.edu	37	2	160721395	160721395	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr2:160721395delC	ENST00000263636.4	-	14	2181	c.2154delG	c.(2152-2154)aggfs	p.R718fs	LY75_ENST00000553424.1_Frame_Shift_Del_p.R718fs|LY75-CD302_ENST00000504764.1_Frame_Shift_Del_p.R718fs|LY75-CD302_ENST00000505052.1_Frame_Shift_Del_p.R718fs|LY75_ENST00000554112.1_Frame_Shift_Del_p.R718fs	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	718	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AATCTGGGCTCCTTTTATTCA	0.368																																																0													146	130	136					2																	160721395		2203	4300	6503	SO:0001589	frameshift_variant	100526664			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2154delG	2.37:g.160721395delC	ENSP00000263636:p.Arg718fs		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Frame_Shift_Del	DEL	ENST00000263636.4	37	CCDS2211.1																																																																																				0.368	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			-	160721395	C	-	160721395	7	5	578	1	0	1	0	1	0	0	0	0	9101	854	30	0	3102	0	LY75	2	160721395	Frame_Shift_Del	DEL	C	TCGA-CZ-4863-01A-01D-1501-10	76060906	160721395	82477978	10	31575											
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	167992508	167992508	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr2:167992508G>C	ENST00000409728.1	+	3	587	c.498G>C	c.(496-498)aaG>aaC	p.K166N	XIRP2_ENST00000409195.1_Missense_Mutation_p.K166N|XIRP2_ENST00000295237.9_Missense_Mutation_p.K166N|XIRP2_ENST00000409756.2_Missense_Mutation_p.K166N|XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000420519.1_Missense_Mutation_p.K166N|XIRP2_ENST00000409043.1_Missense_Mutation_p.K166N	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.K166N(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTCAGACAAGAAAGGCAAGG	0.433																																																2	Substitution - Missense(2)	kidney(2)											97	97	97					2																	167992508		1905	4128	6033	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.498G>C	2.37:g.167992508G>C	ENSP00000386619:p.Lys166Asn		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967261	0.34754	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.84516	-1.52;-1.86;3.84;-1.52;-1.86;3.84	5.51	4.63	0.57726	.	.	.	.	.	T	0.80696	0.4672	.	.	.	0.25397	N	0.988473	P;P	0.46512	0.573;0.879	B;P	0.45167	0.3;0.472	T	0.69124	-0.5228	8	0.27785	T	0.31	-7.5124	9.763	0.40543	0.1577:0.0:0.8423:0.0	.	166;166	A4UGR9-4;A4UGR9-6	.;.	N	166	ENSP00000386454:K166N;ENSP00000386619:K166N;ENSP00000386840:K166N;ENSP00000386724:K166N;ENSP00000415541:K166N;ENSP00000295237:K166N	ENSP00000295237:K166N	K	+	3	2	XIRP2	167700754	0.644000	0.27277	0.992000	0.48379	0.738000	0.42128	0.362000	0.20284	1.323000	0.45263	0.591000	0.81541	AAG		0.433	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		C	167992508	G	C	167992508	3	2	578	1	0	0	0	0	1	0	0	0	17435	933	33	4	504	4	XIRP2	2	167992508	Missense_Mutation	SNP	G	TCGA-CZ-4863-01A-01D-1501-10	7271113	167992508	75206865	11	31576											
SLC39A10	57181	hgsc.bcm.edu;ucsc.edu	37	2	196545001	196545001	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr2:196545001delT	ENST00000409086.3	+	2	510	c.235delT	c.(235-237)tttfs	p.F80fs	SLC39A10_ENST00000359634.5_Frame_Shift_Del_p.F80fs|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	80					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AAGATTATCCTTTTTTGGTTT	0.338																																																0													67	71	70					2																	196545001		2202	4299	6501	SO:0001589	frameshift_variant	57181				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.235delT	2.37:g.196545001delT	ENSP00000386766:p.Phe80fs		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Frame_Shift_Del	DEL	ENST00000409086.3	37	CCDS33353.1																																																																																				0.338	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		-	196545001	T	-	196545001	7	5	578	1	0	1	0	1	0	0	0	0	14619	1609	56	0	237	0	SLC39A10	2	196545001	Frame_Shift_Del	DEL	T	TCGA-CZ-4863-01A-01D-1501-10	28552493	196545001	46654372	12	31577											
GLB1L	79411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220101846	220101846	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr2:220101846A>G	ENST00000295759.7	-	17	2226	c.1913T>C	c.(1912-1914)cTt>cCt	p.L638P	GLB1L_ENST00000392089.2_Missense_Mutation_p.L638P|GLB1L_ENST00000356283.3_Missense_Mutation_p.L548P|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.L548P			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	638					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.L638P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCAGCTGAAAGGGAATTGAT	0.483																																																1	Substitution - Missense(1)	kidney(1)											149	135	140					2																	220101846		2203	4300	6503	SO:0001583	missense	79411				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1913T>C	2.37:g.220101846A>G	ENSP00000295759:p.Leu638Pro		Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.090922	0.36855	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.97404	-4.37;-4.1;-4.37;-4.1	5.08	3.85	0.44370	Galactose-binding domain-like (1);	5.409120	0.00166	N	0.000003	D	0.96383	0.8820	L	0.29908	0.895	0.24148	N	0.995704	P;P	0.51537	0.946;0.91	P;P	0.53809	0.735;0.548	D	0.90359	0.4372	10	0.37606	T	0.19	-4.8562	10.1477	0.42774	0.8334:0.1666:0.0:0.0	.	548;638	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	P	638;548;638;548	ENSP00000295759:L638P;ENSP00000386354:L548P;ENSP00000375939:L638P;ENSP00000348628:L548P	ENSP00000295759:L638P	L	-	2	0	GLB1L	219810090	0.998000	0.40836	0.831000	0.32960	0.091000	0.18340	4.341000	0.59335	2.254000	0.74563	0.533000	0.62120	CTT		0.483	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		G	220101846	A	G	220101846	3	3	578	1	0	0	0	0	1	0	0	0	6430	72	3	3	55	3	GLB1L	2	220101846	Missense_Mutation	SNP	A	TCGA-CZ-4863-01A-01D-1501-10	23556845	220101846	23097527	13	31578											
TMEM198	130612	broad.mit.edu	37	2	220413932	220413932	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr2:220413932T>G	ENST00000344458.2	+	5	1386	c.801T>G	c.(799-801)gaT>gaG	p.D267E	RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.D267E|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	267	Arg-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D267E(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCAGGAAGATCGCAAGGAGA	0.642																																																2	Substitution - Missense(2)	kidney(2)											88	95	93					2																	220413932		2203	4300	6503	SO:0001583	missense	130612			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.801T>G	2.37:g.220413932T>G	ENSP00000343507:p.Asp267Glu			Missense_Mutation	SNP	ENST00000344458.2	37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	T	5.128	0.209183	0.09757	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	4.95	-5.72	0.02406	.	0.179238	0.47093	N	0.000254	T	0.06508	0.0167	N	0.03608	-0.345	0.20703	N	0.999869	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	9	0.02654	T	1	-15.0479	1.7541	0.02978	0.4184:0.2745:0.1135:0.1936	.	267	Q66K66	TM198_HUMAN	E	267	.	ENSP00000343507:D267E	D	+	3	2	TMEM198	220122176	0.280000	0.24249	0.772000	0.31596	0.943000	0.58893	-0.160000	0.10041	-1.129000	0.02918	-0.406000	0.06334	GAT		0.642	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		G	220413932	T	G	220413932	3	3	578	1	0	0	0	0	1	0	0	0	16124	1432	50	5	811	5	TMEM198	2	220413932	Missense_Mutation	SNP	T	TCGA-CZ-4863-01A-01D-1501-10	312086	220413932	22785441	14	31579											
IQCF2	389123	broad.mit.edu;ucsc.edu	37	3	51897084	51897084	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr3:51897084C>A	ENST00000333127.3	+	3	222	c.193C>A	c.(193-195)Cat>Aat	p.H65N	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	65	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.							p.H65N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACACTGCTGCATGCAGCCCT	0.572																																																1	Substitution - Missense(1)	kidney(1)											80	83	82					3																	51897084		2203	4300	6503	SO:0001583	missense	389123			AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.193C>A	3.37:g.51897084C>A	ENSP00000329904:p.His65Asn			Missense_Mutation	SNP	ENST00000333127.3	37	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	c	12.57	1.977421	0.34848	.	.	ENSG00000184345	ENST00000333127	T	0.71341	-0.56	5.06	4.18	0.49190	.	0.000000	0.52532	D	0.000079	T	0.81522	0.4840	M	0.82823	2.61	0.24112	N	0.995839	D	0.76494	0.999	D	0.64144	0.922	T	0.72763	-0.4195	10	0.28530	T	0.3	-27.2843	11.6251	0.51139	0.0:0.8208:0.1792:0.0	.	65	Q8IXL9	IQCF2_HUMAN	N	65	ENSP00000329904:H65N	ENSP00000329904:H65N	H	+	1	0	IQCF2	51872124	0.953000	0.32496	0.613000	0.29037	0.004000	0.04260	2.120000	0.41968	1.457000	0.47850	-0.175000	0.13238	CAT		0.572	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		A	51897084	C	A	51897084	3	1	578	1	0	0	0	0	1	0	0	0	7810	710	25	4	203	4	IQCF2	3	51897084	Missense_Mutation	SNP	C	TCGA-CZ-4863-01A-01D-1501-10		51897084	146125346	15	31580											
COL6A5	256076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130098768	130098768	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr3:130098768C>T	ENST00000432398.2	+	4	1669	c.1175C>T	c.(1174-1176)aCa>aTa	p.T392I	COL6A5_ENST00000265379.6_Missense_Mutation_p.T392I	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	392	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.T392I(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCAGAACAGACAATTTCCACG	0.413																																																1	Substitution - Missense(1)	kidney(1)											67	56	60					3																	130098768		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.1175C>T	3.37:g.130098768C>T	ENSP00000390895:p.Thr392Ile		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	C	9.800	1.180298	0.21787	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.83755	-1.76;-1.76	5.19	-6.04	0.02178	.	.	.	.	.	T	0.65995	0.2745	L	0.34521	1.04	0.09310	N	1	B	0.18310	0.027	B	0.21917	0.037	T	0.51741	-0.8667	9	0.28530	T	0.3	.	1.3447	0.02161	0.1606:0.2829:0.3049:0.2516	.	392	A8TX70-2	.	I	392	ENSP00000390895:T392I;ENSP00000265379:T392I	ENSP00000265379:T392I	T	+	2	0	COL6A5	131581458	0.000000	0.05858	0.000000	0.03702	0.922000	0.55478	0.046000	0.14035	-0.825000	0.04290	0.455000	0.32223	ACA		0.413	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		T	130098768	C	T	130098768	3	4	578	1	0	0	0	0	1	0	0	0	3704	478	17	2	1185	2	COL6A5	3	130098768	Missense_Mutation	SNP	C	TCGA-CZ-4863-01A-01D-1501-10	78201684	130098768	67923662	16	31581											
KLHL5	51088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	39083717	39083717	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr4:39083717C>G	ENST00000504108.1	+	4	1259	c.976C>G	c.(976-978)Cgt>Ggt	p.R326G	KLHL5_ENST00000381930.3_Missense_Mutation_p.R326G|KLHL5_ENST00000261426.5_Missense_Mutation_p.R265G|KLHL5_ENST00000261425.3_Missense_Mutation_p.R280G|KLHL5_ENST00000359687.2_Missense_Mutation_p.R326G|KLHL5_ENST00000508137.2_Missense_Mutation_p.R139G	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	326						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R326C(3)|p.R326G(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCTTGGAATTCGTTCTTTTGC	0.393																																																4	Substitution - Missense(4)	large_intestine(3)|kidney(1)											204	193	197					4																	39083717		2203	4300	6503	SO:0001583	missense	51088			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.976C>G	4.37:g.39083717C>G	ENSP00000423897:p.Arg326Gly		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792929	0.90453	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.45	5.45	0.79879	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.82433	2.59	0.80722	D	1	B;P;P	0.46457	0.192;0.878;0.852	B;P;P	0.54270	0.215;0.747;0.631	T	0.82950	-0.0203	10	0.66056	D	0.02	.	19.6602	0.95864	0.0:1.0:0.0:0.0	.	265;326;326	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	G	360;280;139;326;326;326;265	ENSP00000261425:R280G;ENSP00000423080:R139G;ENSP00000423897:R326G;ENSP00000352716:R326G;ENSP00000371355:R326G;ENSP00000261426:R265G	ENSP00000261425:R280G	R	+	1	0	KLHL5	38760112	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.729000	0.93468	0.460000	0.39030	CGT		0.393	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			G	39083717	C	G	39083717	3	3	578	1	0	0	0	0	1	0	0	0	8394	884	31	4	990	4	KLHL5	4	39083717	Missense_Mutation	SNP	C	TCGA-CZ-4863-01A-01D-1501-10		39083717	152070559	17	31582											
FAT1	2195	broad.mit.edu;ucsc.edu	37	4	187629281	187629281	+	Silent	SNP	A	A	C			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr4:187629281A>C	ENST00000441802.2	-	2	1910	c.1701T>G	c.(1699-1701)ccT>ccG	p.P567P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	567	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P567P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTCAAACAAAGGTGTGTTGT	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											2	Substitution - coding silent(2)	kidney(2)											64	61	62					4																	187629281		1880	4121	6001	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1701T>G	4.37:g.187629281A>C				Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		C	187629281	A	C	187629281	2	2	578	1	0	0	0	0	0	0	0	1	5691	59	3	5		5	FAT1	4	187629281	Silent	SNP	A	TCGA-CZ-4863-01A-01D-1501-10	148545564	187629281	3524995	18	31583											
ADAMTS16	170690	broad.mit.edu;ucsc.edu	37	5	5242262	5242262	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr5:5242262T>A	ENST00000274181.7	+	17	2758	c.2620T>A	c.(2620-2622)Tgg>Agg	p.W874R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	874	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W874R(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGCTACACTTGGGCCATCGT	0.632																																																2	Substitution - Missense(2)	kidney(2)											47	52	51					5																	5242262		2059	4199	6258	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2620T>A	5.37:g.5242262T>A	ENSP00000274181:p.Trp874Arg		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.268319	0.80469	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.70045	-0.45	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.83880	0.5350	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86697	0.1927	10	0.72032	D	0.01	.	15.0565	0.71917	0.0:0.0:0.0:1.0	.	874;874	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	R	874	ENSP00000274181:W874R	ENSP00000274181:W874R	W	+	1	0	ADAMTS16	5295262	1.000000	0.71417	0.902000	0.35471	0.713000	0.41058	6.749000	0.74883	2.198000	0.70561	0.524000	0.50904	TGG		0.632	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		A	5242262	T	A	5242262	3	1	578	1	0	0	0	0	1	0	0	0	261	1812	63	5	2686	5	ADAMTS16	5	5242262	Missense_Mutation	SNP	T	TCGA-CZ-4863-01A-01D-1501-10		5242262	175672998	19	31584											
DMXL1	1657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	118502425	118502425	+	Silent	SNP	A	A	G			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr5:118502425A>G	ENST00000311085.8	+	22	5165	c.5085A>G	c.(5083-5085)gaA>gaG	p.E1695E	DMXL1_ENST00000539542.1_Silent_p.E1695E	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1695								p.E1695E(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGATTTGAACATTCTGCAG	0.353																																																1	Substitution - coding silent(1)	kidney(1)											89	92	91					5																	118502425		2202	4300	6502	SO:0001819	synonymous_variant	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.5085A>G	5.37:g.118502425A>G				Silent	SNP	ENST00000311085.8	37	CCDS4125.1																																																																																				0.353	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		G	118502425	A	G	118502425	2	3	578	1	0	0	0	0	0	0	0	1	4596	40	2	3		3	DMXL1	5	118502425	Silent	SNP	A	TCGA-CZ-4863-01A-01D-1501-10	113260163	118502425	62412835	20	31585											
UNC5A	90249	broad.mit.edu	37	5	176297519	176297519	+	Silent	SNP	T	T	C			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr5:176297519T>C	ENST00000329542.4	+	6	1144	c.870T>C	c.(868-870)agT>agC	p.S290S	UNC5A_ENST00000261961.3_Silent_p.S250S	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	290	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S290S(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGTACCAGTGACCTCTGTG	0.642																																																1	Substitution - coding silent(1)	kidney(1)											64	67	66					5																	176297519		2200	4299	6499	SO:0001819	synonymous_variant	90249			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.870T>C	5.37:g.176297519T>C			B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	T	0.851	-0.738711	0.03111	.	.	ENSG00000113763	ENST00000509580	.	.	.	4.57	-3.75	0.04372	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.3915	13.3302	0.60483	0.0:0.3588:0.0:0.6412	.	.	.	.	R	312	.	.	X	+	1	0	UNC5A	176230125	0.000000	0.05858	0.973000	0.42090	0.013000	0.08279	-2.371000	0.01074	-0.585000	0.05905	-0.756000	0.03474	TGA		0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		C	176297519	T	C	176297519	2	2	578	1	0	0	0	0	0	0	0	1	16996	1693	59	3		3	UNC5A	5	176297519	Silent	SNP	T	TCGA-CZ-4863-01A-01D-1501-10	57795094	176297519	4617741	21	31586											
ENPP5	59084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46133254	46133254	+	Silent	SNP	A	A	G			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr6:46133254A>G	ENST00000371383.2	-	4	1136	c.876T>C	c.(874-876)aaT>aaC	p.N292N	ENPP5_ENST00000230565.3_Silent_p.N292N|ENPP5_ENST00000492313.1_5'UTR					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)									p.N292N(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AAACAGTAAGATTAGGATGAG	0.408																																																1	Substitution - coding silent(1)	kidney(1)											197	174	182					6																	46133254		2203	4300	6503	SO:0001819	synonymous_variant	59084			AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.876T>C	6.37:g.46133254A>G				Silent	SNP	ENST00000371383.2	37	CCDS4915.1																																																																																				0.408	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			G	46133254	A	G	46133254	2	3	578	1	0	0	0	0	0	0	0	1	5135	330	12	3		3	ENPP5	6	46133254	Silent	SNP	A	TCGA-CZ-4863-01A-01D-1501-10		46133254	124981813	22	31587											
KBTBD2	25948	broad.mit.edu;ucsc.edu	37	7	32909724	32909724	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr7:32909724C>T	ENST00000304056.4	-	4	1804	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	369								p.V369I(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TTTATGCGGACAAAAAGCATT	0.413																																																1	Substitution - Missense(1)	kidney(1)											149	137	141					7																	32909724		2203	4300	6503	SO:0001583	missense	25948			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"BTB/POZ domain containing"	21751	protein-coding gene	gene with protein product			"BTB and kelch domain containing 1"	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1105G>A	7.37:g.32909724C>T	ENSP00000302586:p.Val369Ile		A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	CCDS34614.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.63|14.63	2.593611|2.593611	0.46214|0.46214	.|.	.|.	ENSG00000170852|ENSG00000170852	ENST00000537125|ENST00000304056	.|T	.|0.66280	.|-0.2	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Kelch-type beta propeller (1);	.|0.052860	.|0.85682	.|D	.|0.000000	T|T	0.52581|0.52581	0.1743|0.1743	N|N	0.22421|0.22421	0.69|0.69	0.46222|0.46222	D|D	0.998934|0.998934	.|B	.|0.11235	.|0.004	.|B	.|0.09377	.|0.004	T|T	0.42172|0.42172	-0.9467|-0.9467	6|10	0.02654|0.42905	T|T	1|0.14	.|.	20.0752|20.0752	0.97739|0.97739	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|369	.|Q8IY47	.|KBTB2_HUMAN	Y|I	172|369	.|ENSP00000302586:V369I	ENSP00000440299:C172Y|ENSP00000302586:V369I	C|V	-|-	2|1	0|0	KBTBD2|KBTBD2	32876249|32876249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	5.748000|5.748000	0.68697|0.68697	2.826000|2.826000	0.97356|0.97356	0.491000|0.491000	0.48974|0.48974	TGT|GTC		0.413	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		T	32909724	C	T	32909724	3	4	578	1	0	0	0	0	1	0	0	0	7995	478	17	2	770	2	KBTBD2	7	32909724	Missense_Mutation	SNP	C	TCGA-CZ-4863-01A-01D-1501-10		32909724	126228939	23	31588											
FAM180A	389558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	7	135433271	135433272	+	Missense_Mutation	DNP	AC	AC	TA			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr7:135433271_135433272AC>TA	ENST00000338588.3	-	1	322_323	c.57_58GT>TA	c.(55-60)atGTgc>atTAgc	p.19_20MC>IS	FAM180A_ENST00000415751.1_Missense_Mutation_p.19_20MC>IS|FAM180A_ENST00000435869.1_5'UTR	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	19						extracellular region (GO:0005576)		p.M19I(1)|p.C20S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CACCTGTGGCACATAGAAGCCT	0.416																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	389558			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.57_58delinsTA	7.37:g.135433271_135433272delinsTA	ENSP00000342336:p.M19_C20delinsIS		B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	CCDS5841.1																																																																																				0.416	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		TA	135433272	AC	TA	135433271	3	4	578	1	0	0	0	0	1	0	0	0	5509	159	6	5	475	5	FAM180A	7	135433271	Missense_Mutation	DNP	AC	TCGA-CZ-4863-01A-01D-1501-10	102523547	135433271	23705392	24	31589											
EPHB6	2051	broad.mit.edu	37	7	142562259	142562259	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr7:142562259delC	ENST00000392957.2	+	7	1488	c.701delC	c.(700-702)gccfs	p.A234fs	EPHB6_ENST00000442129.1_Frame_Shift_Del_p.A234fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	234	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACCTGCCCTGCCGTGCTCCGA	0.662																																																0													65	74	71					7																	142562259		2201	4296	6497	SO:0001589	frameshift_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.701delC	7.37:g.142562259delC	ENSP00000376684:p.Ala234fs		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Del	DEL	ENST00000392957.2	37	CCDS5873.2																																																																																				0.662	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			-	142562259	C	-	142562259	7	5	578	1	0	1	0	1	0	0	0	0	5180	739	26	0	711	0	EPHB6	7	142562259	Frame_Shift_Del	DEL	C	TCGA-CZ-4863-01A-01D-1501-10	7128988	142562259	16576404	25	31590											
NOM1	64434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	156761876	156761876	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr7:156761876T>G	ENST00000275820.3	+	10	2409	c.2394T>G	c.(2392-2394)agT>agG	p.S798R		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	798						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S798R(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAGACCTCAGTTTAATTTTCA	0.368																																																1	Substitution - Missense(1)	kidney(1)											75	78	77					7																	156761876		2201	4299	6500	SO:0001583	missense	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.2394T>G	7.37:g.156761876T>G	ENSP00000275820:p.Ser798Arg		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	T	3.509	-0.100093	0.07010	.	.	ENSG00000146909	ENST00000275820	T	0.11712	2.75	5.14	2.74	0.32292	.	1.165980	0.05989	N	0.645613	T	0.09423	0.0232	L	0.29908	0.895	0.09310	N	1	B	0.26902	0.163	B	0.28709	0.093	T	0.41858	-0.9485	10	0.16420	T	0.52	-0.6861	8.8305	0.35080	0.0:0.2198:0.0:0.7802	.	798	Q5C9Z4	NOM1_HUMAN	R	798	ENSP00000275820:S798R	ENSP00000275820:S798R	S	+	3	2	NOM1	156454637	0.000000	0.05858	0.188000	0.23233	0.439000	0.31926	0.152000	0.16302	0.811000	0.34303	0.482000	0.46254	AGT		0.368	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		G	156761876	T	G	156761876	3	3	578	1	0	0	0	0	1	0	0	0	10532	1722	60	5	2432	5	NOM1	7	156761876	Missense_Mutation	SNP	T	TCGA-CZ-4863-01A-01D-1501-10	14199617	156761876	2376787	26	31591											
TUSC3	7991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	15480643	15480643	+	Missense_Mutation	SNP	A	A	C	rs11545035	byFrequency	TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr8:15480643A>C	ENST00000503731.1	+	2	341	c.193A>C	c.(193-195)Atc>Ctc	p.I65L	TUSC3_ENST00000509380.1_Missense_Mutation_p.I65L|TUSC3_ENST00000506802.1_Missense_Mutation_p.I65L|TUSC3_ENST00000382020.4_Missense_Mutation_p.I65L|TUSC3_ENST00000503191.1_3'UTR	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	65	Thioredoxin.		I -> V (in dbSNP:rs11545035).		cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.I65L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CAGACGCTCAATCTTCCGAAT	0.388																																																2	Substitution - Missense(2)	kidney(2)											75	75	75					8																	15480643		2203	4300	6503	SO:0001583	missense	7991			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.193A>C	8.37:g.15480643A>C	ENSP00000424544:p.Ile65Leu		A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.325626	0.41197	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.59	0.165	0.14995	Thioredoxin-like fold (2);	0.154257	0.56097	N	0.000022	T	0.24661	0.0598	N	0.19112	0.55	0.39885	D	0.973699	B;B;B;B;B;B	0.16603	0.009;0.014;0.002;0.003;0.014;0.018	B;B;B;B;B;B	0.25614	0.004;0.062;0.001;0.016;0.019;0.014	T	0.05053	-1.0909	10	0.33940	T	0.23	-11.7947	8.1491	0.31130	0.443:0.0:0.557:0.0	.	65;65;65;65;65;65	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	L	65	ENSP00000371450:I65L;ENSP00000425777:I65L;ENSP00000423426:I65L;ENSP00000424544:I65L	ENSP00000221167:I65L	I	+	1	0	TUSC3	15525014	1.000000	0.71417	0.588000	0.28705	0.999000	0.98932	6.250000	0.72435	0.157000	0.19338	0.528000	0.53228	ATC		0.388	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		C	15480643	A	C	15480643	3	2	578	1	0	0	0	0	1	0	0	0	16783	101	4	5	199	5	TUSC3	8	15480643	Missense_Mutation	SNP	A	TCGA-CZ-4863-01A-01D-1501-10		15480643	130883379	27	31592											
TRUB2	26995	broad.mit.edu	37	9	131083994	131083994	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr9:131083994T>C	ENST00000372890.4	-	2	458	c.125A>G	c.(124-126)aAg>aGg	p.K42R	TRUB2_ENST00000546104.1_5'UTR|TRUB2_ENST00000460320.1_5'UTR|COQ4_ENST00000300452.3_5'Flank|COQ4_ENST00000372875.3_5'Flank|COQ4_ENST00000608951.1_5'Flank|COQ4_ENST00000609948.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	42					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.K42R(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						AGCGGGAGGCTTCCTGGCATT	0.468																																																1	Substitution - Missense(1)	kidney(1)											81	66	71					9																	131083994		2203	4300	6503	SO:0001583	missense	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.125A>G	9.37:g.131083994T>C	ENSP00000361982:p.Lys42Arg		B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484200	0.26598	.	.	ENSG00000167112	ENST00000372890	T	0.18338	2.22	5.83	-1.14	0.09741	Pseudouridine synthase, catalytic domain (1);	0.409426	0.29145	N	0.013002	T	0.09686	0.0238	L	0.38531	1.155	0.09310	N	0.999996	B	0.14805	0.011	B	0.14023	0.01	T	0.30765	-0.9967	10	0.19590	T	0.45	-11.4791	5.2959	0.15752	0.0:0.2156:0.254:0.5304	.	42	O95900	TRUB2_HUMAN	R	42	ENSP00000361982:K42R	ENSP00000361982:K42R	K	-	2	0	TRUB2	130123815	0.025000	0.19082	0.032000	0.17829	0.972000	0.66771	0.290000	0.18975	-0.139000	0.11414	0.460000	0.39030	AAG		0.468	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		C	131083994	T	C	131083994	3	2	578	1	0	0	0	0	1	0	0	0	16608	1609	56	3	898	3	TRUB2	9	131083994	Missense_Mutation	SNP	T	TCGA-CZ-4863-01A-01D-1501-10		131083994	10129437	28	31593											
PFKFB3	5209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	6268194	6268194	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr10:6268194A>T	ENST00000379775.4	+	14	1711	c.1381A>T	c.(1381-1383)Agt>Tgt	p.S461C	PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000317350.4_Missense_Mutation_p.S461C|PFKFB3_ENST00000540253.1_Missense_Mutation_p.S475C|PFKFB3_ENST00000379789.4_Missense_Mutation_p.S441C|PFKFB3_ENST00000379785.1_Missense_Mutation_p.S461C|PFKFB3_ENST00000379782.3_Missense_Mutation_p.S461C|PFKFB3_ENST00000360521.2_Missense_Mutation_p.S461C	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	461	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.S461C(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GAGACGCAATAGTGTCACCCC	0.542																																																2	Substitution - Missense(2)	kidney(2)											104	118	113					10																	6268194		2203	4300	6503	SO:0001583	missense	5209				CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1381A>T	10.37:g.6268194A>T	ENSP00000369100:p.Ser461Cys		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471521	0.84533	.	.	ENSG00000170525	ENST00000379789;ENST00000540253;ENST00000379781;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499;ENST00000414237	.	.	.	5.24	5.24	0.73138	.	0.078462	0.85682	D	0.000000	T	0.72985	0.3529	M	0.76574	2.34	0.80722	D	1	D;D;B;D	0.61697	0.99;0.978;0.01;0.962	P;P;B;B	0.53649	0.731;0.497;0.007;0.301	T	0.77960	-0.2391	9	0.87932	D	0	-13.3171	15.1499	0.72689	1.0:0.0:0.0:0.0	.	475;461;461;441	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	C	441;475;55;461;461;461;461;461;461;30	.	ENSP00000369105:S461C	S	+	1	0	PFKFB3	6308200	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.646000	0.91053	1.982000	0.57802	0.533000	0.62120	AGT		0.542	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			T	6268194	A	T	6268194	3	4	578	1	0	0	0	0	1	0	0	0	11764	420	15	5	1455	5	PFKFB3	10	6268194	Missense_Mutation	SNP	A	TCGA-CZ-4863-01A-01D-1501-10		6268194	129266553	29	31594											
FAM175B	23172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	126523420	126523420	+	Silent	SNP	T	T	C			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr10:126523420T>C	ENST00000298492.5	+	9	1173	c.1128T>C	c.(1126-1128)gaT>gaC	p.D376D		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	376					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)	p.D376D(1)		NS(1)	1						ACGACAGTGATTATGAAAATT	0.507																																																1	Substitution - coding silent(1)	kidney(1)											64	63	63					10																	126523420		2203	4300	6503	SO:0001819	synonymous_variant	23172			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"Abraxas brother"	611144	"KIAA0157"	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.1128T>C	10.37:g.126523420T>C			B4DKR2|Q96H11	Silent	SNP	ENST00000298492.5	37	CCDS31308.2																																																																																				0.507	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182		C	126523420	T	C	126523420	2	2	578	1	0	0	0	0	0	0	0	1	5500	1490	52	3		3	FAM175B	10	126523420	Silent	SNP	T	TCGA-CZ-4863-01A-01D-1501-10	120255226	126523420	9011327	30	31595											
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62296732	62296732	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr11:62296732C>A	ENST00000378024.4	-	5	5431	c.5157G>T	c.(5155-5157)aaG>aaT	p.K1719N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1719					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K1719N(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATACTGAACTTGGGCATTT	0.502																																																1	Substitution - Missense(1)	kidney(1)											205	212	209					11																	62296732		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5157G>T	11.37:g.62296732C>A	ENSP00000367263:p.Lys1719Asn		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259521	0.23051	.	.	ENSG00000124942	ENST00000378024	T	0.12147	2.71	3.9	2.01	0.26516	.	0.000000	0.38778	U	0.001568	T	0.43033	0.1229	H	0.94503	3.545	0.27005	N	0.964826	D	0.67145	0.996	D	0.77557	0.99	T	0.37384	-0.9708	10	0.51188	T	0.08	.	8.7794	0.34783	0.0:0.7327:0.0:0.2673	.	1719	Q09666	AHNK_HUMAN	N	1719	ENSP00000367263:K1719N	ENSP00000367263:K1719N	K	-	3	2	AHNAK	62053308	0.036000	0.19791	0.986000	0.45419	0.060000	0.15804	-0.428000	0.06991	0.251000	0.21505	-0.679000	0.03777	AAG		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		A	62296732	C	A	62296732	3	1	578	1	0	0	0	0	1	0	0	0	414	564	20	4	12635	4	AHNAK	11	62296732	Missense_Mutation	SNP	C	TCGA-CZ-4863-01A-01D-1501-10		62296732	72709784	31	31596											
C12orf11	55726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	27075598	27075598	+	Silent	SNP	A	A	G			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr12:27075598A>G	ENST00000261191.7	-	8	1376	c.840T>C	c.(838-840)gaT>gaC	p.D280D	ASUN_ENST00000539625.1_Silent_p.D179D	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	280					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D280D(1)									GTAGCTCCACATCATAATTGG	0.289																																																1	Substitution - coding silent(1)	kidney(1)											131	124	126					12																	27075598		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.840T>C	12.37:g.27075598A>G			B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Silent	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	A	9.899	1.206235	0.22205	.	.	ENSG00000064102	ENST00000536232	.	.	.	5.53	0.531	0.17108	.	.	.	.	.	T	0.57710	0.2072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51949	-0.8640	4	.	.	.	-29.7607	9.7894	0.40697	0.7176:0.0:0.2824:0.0	.	.	.	.	T	38	.	.	M	-	2	0	C12orf11	26966865	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.882000	0.39648	0.150000	0.19136	0.477000	0.44152	ATG		0.289	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		G	27075598	A	G	27075598	2	3	578	1	0	0	0	0	0	0	0	1	1677	214	8	3		3	C12orf11	12	27075598	Silent	SNP	A	TCGA-CZ-4863-01A-01D-1501-10		27075598	106776297	32	31597											
CEP152	22995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	49048532	49048532	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr15:49048532G>C	ENST00000380950.2	-	20	3100	c.2913C>G	c.(2911-2913)atC>atG	p.I971M	CEP152_ENST00000399334.3_Missense_Mutation_p.I971M|CEP152_ENST00000325747.5_Missense_Mutation_p.I878M	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	971					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.I971M(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTGTTCTTGGATTCTGTGGA	0.393																																																1	Substitution - Missense(1)	kidney(1)											202	186	191					15																	49048532		1845	4093	5938	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2913C>G	15.37:g.49048532G>C	ENSP00000370337:p.Ile971Met		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968212	0.53614	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59906	0.23;0.27;0.28	5.54	-0.842	0.10748	.	0.502730	0.20568	N	0.089787	T	0.59528	0.2200	M	0.67953	2.075	0.30998	N	0.72066	D;D;D	0.63046	0.96;0.992;0.985	P;P;P	0.60068	0.605;0.868;0.758	T	0.57665	-0.7772	10	0.38643	T	0.18	-1.534	1.2114	0.01905	0.2941:0.2272:0.3199:0.1588	.	878;971;971	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	M	971;878;971	ENSP00000370337:I971M;ENSP00000321000:I878M;ENSP00000382271:I971M	ENSP00000321000:I878M	I	-	3	3	CEP152	46835824	0.949000	0.32298	0.992000	0.48379	0.912000	0.54170	0.007000	0.13174	-0.097000	0.12307	-0.469000	0.05056	ATC		0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		C	49048532	G	C	49048532	3	2	578	1	0	0	0	0	1	0	0	0	3250	1164	41	4	2079	4	CEP152	15	49048532	Missense_Mutation	SNP	G	TCGA-CZ-4863-01A-01D-1501-10		49048532	53482860	33	31598											
CTSH	1512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	79227327	79227327	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr15:79227327T>A	ENST00000220166.5	-	5	507	c.398A>T	c.(397-399)aAa>aTa	p.K133I	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	133					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)	p.K133I(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TACCTGATTTTTCACAGGTGA	0.488																																																1	Substitution - Missense(1)	kidney(1)											111	96	101					15																	79227327		2196	4293	6489	SO:0001583	missense	1512			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.398A>T	15.37:g.79227327T>A	ENSP00000220166:p.Lys133Ile		B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	ENST00000220166.5	37	CCDS10308.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622807	0.87460	.	.	ENSG00000103811	ENST00000220166;ENST00000394758;ENST00000528741;ENST00000444399	D;D	0.90732	-2.72;-2.72	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.98426	4.23	0.46564	D	0.999107	D;B	0.71674	0.998;0.247	D;P	0.77557	0.99;0.495	D	0.97294	0.9926	10	0.72032	D	0.01	.	10.6604	0.45698	0.0:0.0:0.0:1.0	.	133;121	E9PF73;E9PBP2	.;.	I	133;121;57;133	ENSP00000220166:K133I;ENSP00000435329:K57I	ENSP00000220166:K133I	K	-	2	0	CTSH	77014382	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.129000	0.64739	2.011000	0.59026	0.533000	0.62120	AAA		0.488	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390		A	79227327	T	A	79227327	3	1	578	1	0	0	0	0	1	0	0	0	4038	1841	64	5	641	5	CTSH	15	79227327	Missense_Mutation	SNP	T	TCGA-CZ-4863-01A-01D-1501-10	30178795	79227327	23304065	34	31599											
GLG1	2734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	74524933	74524933	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr16:74524933T>A	ENST00000422840.2	-	8	1414	c.1415A>T	c.(1414-1416)gAg>gTg	p.E472V	GLG1_ENST00000447066.2_Missense_Mutation_p.E461V|GLG1_ENST00000205061.5_Missense_Mutation_p.E472V	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	472					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E472V(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTTCCCCTTCTCCCCTCGAAC	0.488																																																1	Substitution - Missense(1)	kidney(1)											127	116	119					16																	74524933		2198	4300	6498	SO:0001583	missense	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1415A>T	16.37:g.74524933T>A	ENSP00000405984:p.Glu472Val		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.391278	0.62066	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.71	5.71	0.89125	.	0.163510	0.52532	D	0.000062	T	0.43478	0.1249	N	0.14661	0.345	0.80722	D	1	P;P;B	0.47106	0.85;0.89;0.029	P;B;B	0.45971	0.499;0.444;0.017	T	0.43750	-0.9372	9	0.42905	T	0.14	-6.3258	15.9905	0.80202	0.0:0.0:0.0:1.0	.	472;472;461	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	V	472;461;472	.	ENSP00000205061:E472V	E	-	2	0	GLG1	73082434	1.000000	0.71417	0.957000	0.39632	0.977000	0.68977	5.975000	0.70475	2.176000	0.68965	0.533000	0.62120	GAG		0.488	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		A	74524933	T	A	74524933	3	1	578	1	0	0	0	0	1	0	0	0	6438	1551	54	5	2280	5	GLG1	16	74524933	Missense_Mutation	SNP	T	TCGA-CZ-4863-01A-01D-1501-10		74524933	15829820	35	31600											
SLC38A8	146167	broad.mit.edu	37	16	84050801	84050801	+	Silent	SNP	C	C	A			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr16:84050801C>A	ENST00000299709.3	-	7	896	c.897G>T	c.(895-897)cgG>cgT	p.R299R		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	299					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.R299R(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAAAAAGGACCCGGGCCACAA	0.547																																																1	Substitution - coding silent(1)	kidney(1)											128	99	109					16																	84050801		2200	4300	6500	SO:0001819	synonymous_variant	146167				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.897G>T	16.37:g.84050801C>A				Silent	SNP	ENST00000299709.3	37	CCDS32495.1																																																																																				0.547	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		A	84050801	C	A	84050801	2	1	578	1	0	0	0	0	0	0	0	1	14616	610	22	4		4	SLC38A8	16	84050801	Silent	SNP	C	TCGA-CZ-4863-01A-01D-1501-10	9525868	84050801	6303952	36	31601											
SLC47A1	55244	hgsc.bcm.edu;ucsc.edu	37	17	19451355	19451355	+	Missense_Mutation	SNP	G	G	T	rs150632967	byFrequency	TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr17:19451355G>T	ENST00000270570.4	+	4	450	c.364G>T	c.(364-366)Gtc>Ttc	p.V122F	SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000457293.1_Missense_Mutation_p.V122F|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000542886.1_Missense_Mutation_p.V122F|SLC47A1_ENST00000395585.1_Missense_Mutation_p.V122F|SLC47A1_ENST00000436810.2_Missense_Mutation_p.V99F|SLC47A1_ENST00000575023.1_Missense_Mutation_p.V122F	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	122					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GAGTGCGCTCGTCCTGCTCCT	0.602																																																0													140	115	124					17																	19451355		2203	4300	6503	SO:0001583	missense	55244				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.364G>T	17.37:g.19451355G>T	ENSP00000270570:p.Val122Phe		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	g	10.93	1.490156	0.26686	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.99	-2.98	0.05513	.	0.479354	0.22592	N	0.058074	T	0.30324	0.0761	N	0.16903	0.455	0.24701	N	0.993256	P;D;P;P	0.54964	0.872;0.969;0.592;0.487	P;P;P;P	0.62184	0.622;0.899;0.519;0.613	T	0.35798	-0.9774	10	0.87932	D	0	-26.2373	11.383	0.49768	0.7264:0.0:0.2736:0.0	.	99;122;122;122	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	F	99;122;122;122;122	ENSP00000407155:V99F;ENSP00000270570:V122F;ENSP00000415586:V122F;ENSP00000440435:V122F;ENSP00000378951:V122F	ENSP00000270570:V122F	V	+	1	0	SLC47A1	19391947	1.000000	0.71417	0.006000	0.13384	0.007000	0.05969	2.669000	0.46825	-0.986000	0.03498	-1.533000	0.00918	GTC		0.602	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		T	19451355	G	T	19451355	3	4	578	1	0	0	0	0	1	0	0	0	14653	1145	40	4	378	4	SLC47A1	17	19451355	Missense_Mutation	SNP	G	TCGA-CZ-4863-01A-01D-1501-10		19451355	61743855	37	31602											
CBX1	10951	broad.mit.edu;hgsc.bcm.edu	37	17	46148933	46148933	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr17:46148933G>A	ENST00000393408.3	-	5	902	c.422C>T	c.(421-423)tCt>tTt	p.S141F	CBX1_ENST00000225603.4_Missense_Mutation_p.S141F	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	141	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)	p.S141F(1)		breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						AGCCTCATCAGAGTTTTTCCT	0.488																																					NSCLC(136;694 2497 38792 39034)											1	Substitution - Missense(1)	kidney(1)											57	48	51					17																	46148933		2203	4300	6503	SO:0001583	missense	10951			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"HP1 beta homolog (Drosophila )"	604511	"chromobox homolog 1 (Drosophila HP1 beta)"			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.422C>T	17.37:g.46148933G>A	ENSP00000377060:p.Ser141Phe		P23197	Missense_Mutation	SNP	ENST00000393408.3	37	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537411	0.65085	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583	.	.	.	5.28	5.28	0.74379	Chromo shadow (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo shadow, subgroup (1);	0.000000	0.64402	U	0.000001	T	0.78929	0.4361	M	0.81179	2.53	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.78902	-0.2021	9	0.42905	T	0.14	-9.6933	18.2281	0.89924	0.0:0.0:1.0:0.0	.	141	P83916	CBX1_HUMAN	F	141;141;145	.	ENSP00000225603:S141F	S	-	2	0	CBX1	43503932	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.747000	0.98863	2.689000	0.91719	0.549000	0.68633	TCT		0.488	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		A	46148933	G	A	46148933	3	1	578	1	0	0	0	0	1	0	0	0	2719	942	33	2	139	2	CBX1	17	46148933	Missense_Mutation	SNP	G	TCGA-CZ-4863-01A-01D-1501-10	26697578	46148933	35046277	38	31603											
MTMR4	9110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56573389	56573389	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr17:56573389A>T	ENST00000323456.5	-	16	2238	c.2114T>A	c.(2113-2115)cTt>cAt	p.L705H	MTMR4_ENST00000579925.1_Missense_Mutation_p.L648H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	705					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.L705H(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCGGTATTAAGCAGTTTGTA	0.493																																																1	Substitution - Missense(1)	kidney(1)											240	239	239					17																	56573389		2203	4300	6503	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2114T>A	17.37:g.56573389A>T	ENSP00000325285:p.Leu705His		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	A	2.136	-0.398021	0.04865	.	.	ENSG00000108389	ENST00000323456	D	0.93953	-3.32	4.57	3.48	0.39840	.	1.315110	0.04755	N	0.425275	D	0.91835	0.7416	L	0.27053	0.805	0.23198	N	0.998139	D	0.65815	0.995	P	0.56398	0.797	T	0.81915	-0.0714	10	0.15066	T	0.55	.	7.014	0.24877	0.8964:0.0:0.1036:0.0	.	705	Q9NYA4	MTMR4_HUMAN	H	705	ENSP00000325285:L705H	ENSP00000325285:L705H	L	-	2	0	MTMR4	53928388	0.002000	0.14202	0.838000	0.33150	0.720000	0.41350	1.119000	0.31258	0.887000	0.36136	0.533000	0.62120	CTT		0.493	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		T	56573389	A	T	56573389	3	4	578	1	0	0	0	0	1	0	0	0	9948	72	3	5	1489	5	MTMR4	17	56573389	Missense_Mutation	SNP	A	TCGA-CZ-4863-01A-01D-1501-10	10424456	56573389	24621821	39	31604											
UHRF1	29128	broad.mit.edu	37	19	4941811	4941811	+	RNA	DEL	G	G	-			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr19:4941811delG	ENST00000592666.1	+	0	1517							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AGACTCTGCCGGGTCTGCGCC	0.697																																																0													11	14	13					19																	4941811		2107	4202	6309			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4941811delG			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Frame_Shift_Del	DEL	ENST00000592666.1	37																																																																																					0.697	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		-	4941811	G	-	4941811	6	5	578	0	1	1	0	1	0	0	0	0	16972	1116	39	0		0	UHRF1	19	4941811	RNA	DEL	G	TCGA-CZ-4863-01A-01D-1501-10		4941811	54187172	40	31605											
MUC16	94025	broad.mit.edu;ucsc.edu	37	19	9046549	9046549	+	Silent	SNP	A	A	G			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr19:9046549A>G	ENST00000397910.4	-	5	35285	c.35082T>C	c.(35080-35082)ccT>ccC	p.P11694P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11696	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P11694P(1)|p.P7327P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTGTGGAGGATGAGTGA	0.522																																																2	Substitution - coding silent(2)	kidney(2)											115	113	114					19																	9046549		2011	4178	6189	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35082T>C	19.37:g.9046549A>G			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	9046549	A	G	9046549	2	3	578	1	0	0	0	0	0	0	0	1	9975	291	11	3		3	MUC16	19	9046549	Silent	SNP	A	TCGA-CZ-4863-01A-01D-1501-10	4104738	9046549	50082434	41	31606											
CRTC1	23373	broad.mit.edu	37	19	18856654	18856654	+	Silent	SNP	C	C	T			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chr19:18856654C>T	ENST00000321949.8	+	3	291	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	CRTC1_ENST00000338797.6_Silent_p.L105L|CRTC1_ENST00000601916.1_Silent_p.L14L|CRTC1_ENST00000594658.1_Silent_p.L48L	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.L105L(1)|p.L89L(1)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ATCCTCGGGCCTGGACACCAG	0.667																																																2	Substitution - coding silent(2)	kidney(2)											51	63	59					19																	18856654		2203	4300	6503	SO:0001819	synonymous_variant	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.265C>T	19.37:g.18856654C>T				Silent	SNP	ENST00000321949.8	37	CCDS32963.1																																																																																				0.667	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		T	18856654	C	T	18856654	2	4	578	1	0	0	0	0	0	0	0	1	3901	680	24	2		2	CRTC1	19	18856654	Silent	SNP	C	TCGA-CZ-4863-01A-01D-1501-10	9810105	18856654	40272329	42	31607											
NOX1	27035	broad.mit.edu;ucsc.edu	37	X	100105317	100105317	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4863-01A-01D-1501-10	TCGA-CZ-4863-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4286d73b-1fb9-41a3-baba-46f23100586a	1b3a35ca-6f5c-41e2-95ab-f90ff0fcec8f	g.chrX:100105317A>T	ENST00000372966.3	-	9	1161	c.956T>A	c.(955-957)aTg>aAg	p.M319K	NOX1_ENST00000372960.4_Missense_Mutation_p.M282K|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.M319K	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	319	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.M319K(1)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						CCCCACTTCCATGCTGAAGCC	0.438																																																1	Substitution - Missense(1)	kidney(1)											48	43	45					X																	100105317		2203	4300	6503	SO:0001583	missense	27035			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.956T>A	X.37:g.100105317A>T	ENSP00000362057:p.Met319Lys		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	CCDS14474.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.13|16.13	3.035324|3.035324	0.54896|0.54896	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000427768|ENST00000372966;ENST00000217885;ENST00000372960;ENST00000372957	.|T;T;T	.|0.13538	.|2.58;2.58;2.58	3.87|3.87	2.71|2.71	0.32032|0.32032	.|Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	.|0.049199	.|0.85682	.|D	.|0.000000	T|T	0.36468|0.36468	0.0968|0.0968	M|M	0.87038|0.87038	2.855|2.855	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.64830	.|0.994;0.98;0.992	.|D;P;D	.|0.75020	.|0.985;0.897;0.958	T|T	0.06075|0.06075	-1.0847|-1.0847	5|10	.|0.54805	.|T	.|0.06	-9.2071|-9.2071	7.4191|7.4191	0.27061|0.27061	0.8926:0.0:0.1074:0.0|0.8926:0.0:0.1074:0.0	.|.	.|282;319;319	.|A6NGA6;Q9Y5S8-3;Q9Y5S8	.|.;.;NOX1_HUMAN	Q|K	3|319;319;282;8	.|ENSP00000362057:M319K;ENSP00000217885:M319K;ENSP00000362051:M282K	.|ENSP00000217885:M319K	H|M	-|-	3|2	2|0	NOX1|NOX1	99991973|99991973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	6.362000|6.362000	0.73077|0.73077	0.420000|0.420000	0.25954|0.25954	0.345000|0.345000	0.21793|0.21793	CAT|ATG		0.438	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		T	100105317	A	T	100105317	3	4	578	1	0	0	0	0	1	0	0	0	10558	217	8	5	758	5	NOX1	23	100105317	Missense_Mutation	SNP	A	TCGA-CZ-4863-01A-01D-1501-10		100105317	55165243	43	31608											
SPEN	23013	hgsc.bcm.edu;ucsc.edu	37	1	16254657	16254658	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr1:16254657_16254658delCT	ENST00000375759.3	+	11	2126_2127	c.1922_1923delCT	c.(1921-1923)actfs	p.T641fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	641	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACTCCAGGCACTTATCCTGAGG	0.431																																																0																																										SO:0001589	frameshift_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1922_1923delCT	1.37:g.16254657_16254658delCT	ENSP00000364912:p.Thr641fs		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	CCDS164.1																																																																																				0.431	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		-	16254658	CT	-	16254657	7	5	579	1	0	1	0	1	0	0	0	0	15043	565	20	0	1964	0	SPEN	1	16254657	Frame_Shift_Del	DEL	CT	TCGA-CZ-4865-01A-02D-1501-10		16254657	232995964	1	31609											
SPEN	23013	hgsc.bcm.edu;ucsc.edu	37	1	16255323	16255323	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr1:16255323A>C	ENST00000375759.3	+	11	2792	c.2588A>C	c.(2587-2589)gAc>gCc	p.D863A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	863					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGAAAGCTGACAAAGAGGGA	0.478																																																0													87	91	90					1																	16255323		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2588A>C	1.37:g.16255323A>C	ENSP00000364912:p.Asp863Ala		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207760	0.58343	.	.	ENSG00000065526	ENST00000375759	T	0.11604	2.76	5.01	5.01	0.66863	.	.	.	.	.	T	0.29652	0.0740	M	0.62723	1.935	0.52501	D	0.99995	D	0.89917	1.0	D	0.80764	0.994	T	0.01051	-1.1468	9	0.42905	T	0.14	-25.0369	14.8956	0.70642	1.0:0.0:0.0:0.0	.	863	Q96T58	MINT_HUMAN	A	863	ENSP00000364912:D863A	ENSP00000364912:D863A	D	+	2	0	SPEN	16127910	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.449000	0.73473	2.098000	0.63641	0.533000	0.62120	GAC		0.478	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		C	16255323	A	C	16255323	3	2	579	1	0	0	0	0	1	0	0	0	15043	275	10	5	2630	5	SPEN	1	16255323	Missense_Mutation	SNP	A	TCGA-CZ-4865-01A-02D-1501-10	666	16255323	232995298	2	31610											
MED18	54797	hgsc.bcm.edu;ucsc.edu	37	1	28660959	28660959	+	Silent	SNP	C	C	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr1:28660959C>T	ENST00000373842.4	+	3	314	c.105C>T	c.(103-105)ctC>ctT	p.L35L	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Silent_p.L35L	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	35						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAAGCCTCATCCACCGCC	0.448																																																0													183	174	177					1																	28660959		2203	4300	6503	SO:0001819	synonymous_variant	54797			BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.105C>T	1.37:g.28660959C>T			D3DPM1|Q9NXU9	Silent	SNP	ENST00000373842.4	37	CCDS322.1																																																																																				0.448	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		T	28660959	C	T	28660959	2	4	579	1	0	0	0	0	0	0	0	1	9438	813	29	2		2	MED18	1	28660959	Silent	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	12405636	28660959	220589662	3	31611											
SNRNP40	9410	hgsc.bcm.edu;ucsc.edu	37	1	31766074	31766074	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr1:31766074C>T	ENST00000263694.4	-	2	281	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	SNRNP40_ENST00000446633.2_Missense_Mutation_p.R88Q	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	88					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						ACATATCAGTCGGTCAAATCC	0.438																																																0													85	75	79					1																	31766074		2203	4300	6503	SO:0001583	missense	9410			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"WD repeat domain containing"	30857	protein-coding gene	gene with protein product		607797	"WD repeat domain 57 (U5 snRNP specific)"	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.263G>A	1.37:g.31766074C>T	ENSP00000263694:p.Arg88Gln		B4DQJ1|O75938|O95320	Missense_Mutation	SNP	ENST00000263694.4	37	CCDS340.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413911	0.96072	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.61510	0.1;0.1	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	L	0.60904	1.88	0.80722	D	1	P;P	0.51240	0.943;0.943	P;P	0.56127	0.792;0.63	T	0.67181	-0.5735	10	0.42905	T	0.14	.	20.051	0.97627	0.0:1.0:0.0:0.0	.	88;88	B4DQJ1;Q96DI7	.;SNR40_HUMAN	Q	88	ENSP00000263694:R88Q;ENSP00000406841:R88Q	ENSP00000263694:R88Q	R	-	2	0	SNRNP40	31538661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.751000	0.85126	2.740000	0.93945	0.650000	0.86243	CGA		0.438	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		T	31766074	C	T	31766074	3	4	579	1	0	0	0	0	1	0	0	0	14862	884	31	1	846	1	SNRNP40	1	31766074	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	3105115	31766074	217484547	4	31612											
COL24A1	255631	hgsc.bcm.edu;ucsc.edu	37	1	86591606	86591606	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr1:86591606A>G	ENST00000370571.2	-	3	779	c.413T>C	c.(412-414)cTa>cCa	p.L138P	COL24A1_ENST00000436319.1_Missense_Mutation_p.L138P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	138					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTTTAGGTAGTAATTGTAC	0.358																																																0													51	48	49					1																	86591606		1839	4086	5925	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.413T>C	1.37:g.86591606A>G	ENSP00000359603:p.Leu138Pro		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100084	0.37048	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02103	4.45;4.45	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.31370	N	0.007773	T	0.07773	0.0195	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.02491	-1.1151	10	0.62326	D	0.03	.	15.3471	0.74346	1.0:0.0:0.0:0.0	.	138;138	F8WDM8;Q17RW2	.;COOA1_HUMAN	P	138	ENSP00000359603:L138P;ENSP00000392531:L138P	ENSP00000359603:L138P	L	-	2	0	COL24A1	86364194	1.000000	0.71417	0.952000	0.39060	0.854000	0.48673	4.846000	0.62860	2.220000	0.72140	0.533000	0.62120	CTA		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		G	86591606	A	G	86591606	3	3	579	1	0	0	0	0	1	0	0	0	3685	420	15	3	4963	3	COL24A1	1	86591606	Missense_Mutation	SNP	A	TCGA-CZ-4865-01A-02D-1501-10	54825532	86591606	162659015	5	31613											
PSMD4	5710	hgsc.bcm.edu;ucsc.edu	37	1	151236485	151236485	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr1:151236485C>T	ENST00000368884.3	+	3	343	c.263C>T	c.(262-264)aCg>aTg	p.T88M	PSMD4_ENST00000368881.4_Missense_Mutation_p.T88M|PSMD4_ENST00000469786.2_3'UTR	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	88	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCTTCTGCACGGGCATCCGC	0.572																																																0													103	74	84					1																	151236485		2203	4300	6503	SO:0001583	missense	5710			U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"Proteasome (prosome, macropain) subunits"	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.263C>T	1.37:g.151236485C>T	ENSP00000357879:p.Thr88Met		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	CCDS991.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366026	0.61513	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T;T	0.22336	1.96;1.96;1.96	5.27	4.33	0.51752	Ssl1-like (1);von Willebrand factor, type A (2);	0.000000	0.64402	D	0.000001	T	0.21718	0.0523	M	0.86502	2.82	0.54753	D	0.999987	P;B	0.39003	0.654;0.426	B;B	0.39068	0.149;0.289	T	0.06625	-1.0816	10	0.62326	D	0.03	-22.1375	12.4513	0.55679	0.0:0.9196:0.0:0.0804	.	88;88	Q5VWC4;P55036	.;PSMD4_HUMAN	M	88;88;73	ENSP00000357879:T88M;ENSP00000357876:T88M;ENSP00000414499:T73M	ENSP00000357876:T88M	T	+	2	0	PSMD4	149503109	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.598000	0.67585	2.750000	0.94351	0.563000	0.77884	ACG		0.572	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		T	151236485	C	T	151236485	3	4	579	1	0	0	0	0	1	0	0	0	12705	536	19	1	273	1	PSMD4	1	151236485	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	64644879	151236485	98014136	6	31614											
FCRL4	83417	hgsc.bcm.edu;ucsc.edu	37	1	157557663	157557663	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr1:157557663T>C	ENST00000271532.1	-	4	689	c.554A>G	c.(553-555)aAa>aGa	p.K185R	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	185					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACCTTGAATTTTAATTATTTT	0.323																																																0													34	35	35					1																	157557663		2201	4298	6499	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.554A>G	1.37:g.157557663T>C	ENSP00000271532:p.Lys185Arg		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	T	7.779	0.709014	0.15239	.	.	ENSG00000163518	ENST00000271532	T	0.18502	2.21	3.97	-1.51	0.08664	Immunoglobulin subtype (1);	1.809700	0.03107	N	0.161921	T	0.03220	0.0094	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.36529	-0.9744	10	0.13470	T	0.59	.	7.6222	0.28191	0.0:0.4105:0.0:0.5895	.	185	Q96PJ5	FCRL4_HUMAN	R	185	ENSP00000271532:K185R	ENSP00000271532:K185R	K	-	2	0	FCRL4	155824287	0.018000	0.18449	0.016000	0.15963	0.248000	0.25809	0.133000	0.15912	-0.402000	0.07633	0.383000	0.25322	AAA		0.323	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		C	157557663	T	C	157557663	3	2	579	1	0	0	0	0	1	0	0	0	5799	1841	64	3	1029	3	FCRL4	1	157557663	Missense_Mutation	SNP	T	TCGA-CZ-4865-01A-02D-1501-10	6321178	157557663	91692958	7	31615											
UCK2	7371	hgsc.bcm.edu;ucsc.edu	37	1	165859456	165859456	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr1:165859456A>T	ENST00000367879.4	+	2	418	c.115A>T	c.(115-117)Aag>Tag	p.K39*	UCK2_ENST00000372212.4_Nonsense_Mutation_p.K39*	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	39					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CGTGTGTGCTAAGATCGTGCA	0.547																																																0													135	118	124					1																	165859456		2203	4300	6503	SO:0001587	stop_gained	7371			AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"uridine monophosphate kinase"	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.115A>T	1.37:g.165859456A>T	ENSP00000356853:p.Lys39*		Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Nonsense_Mutation	SNP	ENST00000367879.4	37	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	A	38	6.660753	0.97743	.	.	ENSG00000143179	ENST00000367879;ENST00000372212	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.9363	14.0437	0.64693	1.0:0.0:0.0:0.0	.	.	.	.	X	39	.	ENSP00000356853:K39X	K	+	1	0	UCK2	164126080	1.000000	0.71417	0.937000	0.37676	0.407000	0.30961	9.027000	0.93706	2.186000	0.69663	0.533000	0.62120	AAG		0.547	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		T	165859456	A	T	165859456	4	4	579	1	0	0	0	0	0	1	0	0	16929	363	13	5	121	5	UCK2	1	165859456	Nonsense_Mutation	SNP	A	TCGA-CZ-4865-01A-02D-1501-10	8301793	165859456	83391165	8	31616											
ILDR2	387597	hgsc.bcm.edu;ucsc.edu	37	1	166891956	166891956	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr1:166891956G>A	ENST00000271417.3	-	8	1140	c.1085C>T	c.(1084-1086)cCt>cTt	p.P362L	ILDR2_ENST00000526687.1_Missense_Mutation_p.P254L|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.P303L|ILDR2_ENST00000469934.2_Missense_Mutation_p.P362L|ILDR2_ENST00000525740.1_Missense_Mutation_p.P235L|ILDR2_ENST00000529071.1_Missense_Mutation_p.P343L	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	362					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCCAGACACAGGGAACTGCTT	0.537																																																0													166	161	162					1																	166891956		2203	4300	6503	SO:0001583	missense	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1085C>T	1.37:g.166891956G>A	ENSP00000271417:p.Pro362Leu			Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119421	0.77323	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;D;T;T;D;T	0.82893	0.04;-1.66;0.31;0.04;-1.61;-0.57	4.96	3.98	0.46160	.	0.113484	0.64402	D	0.000008	T	0.78830	0.4345	M	0.64997	1.995	0.54753	D	0.999989	D	0.53619	0.961	P	0.47206	0.541	T	0.82374	-0.0489	10	0.66056	D	0.02	.	13.1216	0.59329	0.0:0.1603:0.8397:0.0	.	362	Q71H61	ILDR2_HUMAN	L	362;235;362;343;254;303	ENSP00000271417:P362L;ENSP00000436120:P235L;ENSP00000437008:P362L;ENSP00000436882:P343L;ENSP00000434273:P254L;ENSP00000432750:P303L	ENSP00000271417:P362L	P	-	2	0	ILDR2	165158580	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.259000	0.65485	2.284000	0.76573	0.561000	0.74099	CCT		0.537	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		A	166891956	G	A	166891956	3	1	579	1	0	0	0	0	1	0	0	0	7712	1000	35	2	846	2	ILDR2	1	166891956	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	1032500	166891956	82358665	9	31617											
DHX9	1660	hgsc.bcm.edu;ucsc.edu	37	1	182849640	182849640	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr1:182849640G>A	ENST00000367549.3	+	22	2631	c.2521G>A	c.(2521-2523)Gca>Aca	p.A841T	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	841					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGAGCTTGATGCATTAGATGC	0.388																																					Colon(69;210 1162 3697 13559 39565)											0													105	100	102					1																	182849640		1916	4131	6047	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2521G>A	1.37:g.182849640G>A	ENSP00000356520:p.Ala841Thr		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212915	0.95069	.	.	ENSG00000135829	ENST00000367549	T	0.56275	0.47	5.55	5.55	0.83447	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.80507	0.4636	H	0.95151	3.63	0.80722	D	1	P;D	0.54207	0.88;0.965	P;P	0.61722	0.708;0.893	D	0.86042	0.1520	10	0.72032	D	0.01	.	19.5106	0.95140	0.0:0.0:1.0:0.0	.	120;841	B3KU66;Q08211	.;DHX9_HUMAN	T	841	ENSP00000356520:A841T	ENSP00000356520:A841T	A	+	1	0	DHX9	181116263	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.140000	0.94607	2.587000	0.87381	0.650000	0.86243	GCA		0.388	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		A	182849640	G	A	182849640	3	1	579	1	0	0	0	0	1	0	0	0	4518	1319	46	2	2603	2	DHX9	1	182849640	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	15957684	182849640	66400981	10	31618											
LYST	1130	hgsc.bcm.edu;ucsc.edu	37	1	235884146	235884146	+	Silent	SNP	A	A	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr1:235884146A>G	ENST00000389794.3	-	40	9549	c.9375T>C	c.(9373-9375)taT>taC	p.Y3125Y	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.Y3125Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3125	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGATGTTACCATATTCCAGAA	0.348																																																0													130	128	128					1																	235884146		2203	4300	6503	SO:0001819	synonymous_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9375T>C	1.37:g.235884146A>G			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																				0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			G	235884146	A	G	235884146	2	3	579	1	0	0	0	0	0	0	0	1	9130	224	8	3		3	LYST	1	235884146	Silent	SNP	A	TCGA-CZ-4865-01A-02D-1501-10	53034506	235884146	13366475	11	31619											
TMEM17	200728	hgsc.bcm.edu;ucsc.edu	37	2	62728623	62728623	+	Splice_Site	SNP	C	C	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr2:62728623C>G	ENST00000335390.5	-	4	530		c.e4-1			NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17						cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			ACTCAGGAACCTGCAATGACA	0.368																																																0													45	51	49					2																	62728623		2203	4300	6503	SO:0001630	splice_region_variant	200728				CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.319-1G>C	2.37:g.62728623C>G			Q53QP7|Q53R98	Splice_Site	SNP	ENST00000335390.5	37	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823945	0.71143	.	.	ENSG00000186889	ENST00000335390	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8212	0.96595	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM17	62582127	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.151000	0.77411	2.694000	0.91930	0.650000	0.86243	.		0.368	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276	Intron	G	62728623	C	G	62728623	5	3	579	1	0	0	0	0	0	0	1	0	16090	695	24	4	282	4	TMEM17	2	62728623	Splice_Site	SNP	C	TCGA-CZ-4865-01A-02D-1501-10		62728623	180470750	12	31620											
POLR1A	25885	hgsc.bcm.edu;ucsc.edu	37	2	86292438	86292438	+	Missense_Mutation	SNP	G	G	C	rs191928354	byFrequency	TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr2:86292438G>C	ENST00000263857.6	-	14	2395	c.2017C>G	c.(2017-2019)Cct>Gct	p.P673A	POLR1A_ENST00000483538.1_5'UTR|POLR1A_ENST00000409681.1_Missense_Mutation_p.P673A			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	673					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGATGGAAGGAGAAAGGAGC	0.502													G|||	4	0.000798722	0.003	0.0	5008	,	,		18673	0.0		0.0	False		,,,				2504	0.0															0								G	ALA/PRO	15,3881		0,15,1933	125	127	126		2017	6	1	2		126	1,8299		0,1,4149	yes	missense	POLR1A	NM_015425.3	27	0,16,6082	CC,CG,GG		0.012,0.385,0.1312	probably-damaging	673/1721	86292438	16,12180	1948	4150	6098	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2017C>G	2.37:g.86292438G>C	ENSP00000263857:p.Pro673Ala		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	21.3	4.125330	0.77436	0.00385	1.2E-4	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.79653	-1.29;-1.29	5.97	5.97	0.96955	RNA polymerase Rpb1, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.92388	0.7584	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94169	0.7421	10	0.87932	D	0	-14.333	20.0343	0.97551	0.0:0.0:1.0:0.0	.	673	O95602	RPA1_HUMAN	A	673	ENSP00000263857:P673A;ENSP00000386300:P673A	ENSP00000263857:P673A	P	-	1	0	POLR1A	86145949	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.476000	0.97823	2.828000	0.97474	0.655000	0.94253	CCT		0.502	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		C	86292438	G	C	86292438	3	2	579	1	0	0	0	0	1	0	0	0	12211	1174	41	4	3229	4	POLR1A	2	86292438	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	23563815	86292438	156906935	13	31621											
KCTD18	130535	hgsc.bcm.edu;ucsc.edu	37	2	201371733	201371733	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr2:201371733C>G	ENST00000359878.3	-	2	517	c.7G>C	c.(7-9)Ggc>Cgc	p.G3R	KCTD18_ENST00000409157.1_Missense_Mutation_p.G3R|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	3					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GCCTTGTGGCCTTCCATTTCT	0.507																																																0													90	99	96					2																	201371733		2203	4300	6503	SO:0001583	missense	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.7G>C	2.37:g.201371733C>G	ENSP00000352941:p.Gly3Arg		Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398072	0.62177	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.35973	1.28;1.28	5.46	4.59	0.56863	.	0.511109	0.19720	N	0.107614	T	0.32071	0.0817	N	0.22421	0.69	0.34449	D	0.700434	B;P	0.43477	0.126;0.808	B;P	0.45037	0.05;0.467	T	0.50923	-0.8770	10	0.72032	D	0.01	-5.6258	13.8153	0.63287	0.0:0.9266:0.0:0.0734	.	3;3	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	R	3	ENSP00000352941:G3R;ENSP00000386751:G3R	ENSP00000352941:G3R	G	-	1	0	KCTD18	201079978	0.901000	0.30685	0.990000	0.47175	0.904000	0.53231	1.787000	0.38704	1.544000	0.49359	0.655000	0.94253	GGC		0.507	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		G	201371733	C	G	201371733	3	3	579	1	0	0	0	0	1	0	0	0	8107	681	24	4	1297	4	KCTD18	2	201371733	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	115079295	201371733	41827640	14	31622											
ITGB5	3693	hgsc.bcm.edu;ucsc.edu	37	3	124536468	124536468	+	Splice_Site	SNP	A	A	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr3:124536468A>G	ENST00000296181.4	-	8	1424	c.1128T>C	c.(1126-1128)aaT>aaC	p.N376N		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	376	VWFA.				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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GATGACTTACATTGTATGCAT	0.488																																																0													86	90	89					3																	124536468		2203	4300	6503	SO:0001630	splice_region_variant	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1128+1T>C	3.37:g.124536468A>G			B0LPF8|B2RD70	Silent	SNP	ENST00000296181.4	37	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	A	2.067	-0.413992	0.04799	.	.	ENSG00000082781	ENST00000481591	.	.	.	5.67	-1.39	0.08997	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56786	-0.7921	4	.	.	.	.	12.3278	0.55022	0.6148:0.0:0.3852:0.0	.	.	.	.	T	111	.	.	M	-	2	0	ITGB5	126019158	0.199000	0.23386	0.827000	0.32855	0.023000	0.10783	-0.303000	0.08210	-0.162000	0.10964	-1.140000	0.01884	ATG		0.488	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213	Silent	G	124536468	A	G	124536468	5	3	579	1	0	0	0	0	0	0	1	0	7900	231	8	3	1303	3	ITGB5	3	124536468	Splice_Site	SNP	A	TCGA-CZ-4865-01A-02D-1501-10		124536468	73485962	15	31623											
MED12L	116931	hgsc.bcm.edu;ucsc.edu	37	3	150845653	150845653	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr3:150845653A>T	ENST00000474524.1	+	4	476	c.438A>T	c.(436-438)ttA>ttT	p.L146F	MED12L_ENST00000273432.4_Missense_Mutation_p.L146F|MED12L_ENST00000422248.2_Missense_Mutation_p.L146F|MED12L_ENST00000309237.4_Missense_Mutation_p.L146F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	146						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCATATTTAGCTAAATATT	0.333																																																0													95	91	93					3																	150845653		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.438A>T	3.37:g.150845653A>T	ENSP00000417235:p.Leu146Phe		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739368	0.69304	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.71461	-0.33;-0.34;-0.39;-0.57	5.54	4.36	0.52297	Mediator complex, subunit Med12 (1);	0.087235	0.45606	D	0.000351	D	0.82342	0.5016	M	0.78049	2.395	0.27407	N	0.954689	D;D;D;P	0.76494	0.999;0.999;0.999;0.946	D;D;D;P	0.87578	0.996;0.998;0.996;0.624	T	0.75833	-0.3178	10	0.87932	D	0	-4.9324	10.1375	0.42715	0.9226:0.0:0.0774:0.0	.	146;146;146;146	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	F	146	ENSP00000403308:L146F;ENSP00000310760:L146F;ENSP00000417235:L146F;ENSP00000273432:L146F	ENSP00000273432:L146F	L	+	3	2	MED12L	152328343	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.889000	0.39718	0.891000	0.36235	0.529000	0.55759	TTA		0.333	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		T	150845653	A	T	150845653	3	4	579	1	0	0	0	0	1	0	0	0	9431	417	15	5	452	5	MED12L	3	150845653	Missense_Mutation	SNP	A	TCGA-CZ-4865-01A-02D-1501-10	26309185	150845653	47176777	16	31624											
UGT2B4	7363	hgsc.bcm.edu;ucsc.edu	37	4	70361487	70361487	+	Silent	SNP	T	T	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr4:70361487T>C	ENST00000305107.6	-	1	139	c.93A>G	c.(91-93)acA>acG	p.T31T	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.T31T	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	31					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GGCTGAATTCTGTGGGCCACA	0.463																																																0													146	148	147					4																	70361487		2203	4300	6503	SO:0001819	synonymous_variant	7363			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.93A>G	4.37:g.70361487T>C			A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	CCDS43234.1																																																																																				0.463	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		C	70361487	T	C	70361487	2	2	579	1	0	0	0	0	0	0	0	1	16966	1567	55	3		3	UGT2B4	4	70361487	Silent	SNP	T	TCGA-CZ-4865-01A-02D-1501-10		70361487	120792789	17	31625											
G3BP2	9908	hgsc.bcm.edu;ucsc.edu	37	4	76572287	76572287	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr4:76572287G>A	ENST00000359707.4	-	10	1768	c.983C>T	c.(982-984)cCa>cTa	p.P328L	G3BP2_ENST00000357854.3_Missense_Mutation_p.P295L|G3BP2_ENST00000395719.3_Missense_Mutation_p.P328L	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	328					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATGACTATCTGGATAGCGAAT	0.343																																																0													103	102	103					4																	76572287		2203	4299	6502	SO:0001583	missense	9908			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.983C>T	4.37:g.76572287G>A	ENSP00000352738:p.Pro328Leu		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225560	0.95173	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.74842	-0.88;-0.88;-0.88	6.04	6.04	0.98038	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.86694	0.5994	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.958	D	0.86058	0.1530	10	0.62326	D	0.03	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	295;328	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	L	328;328;295	ENSP00000379069:P328L;ENSP00000352738:P328L;ENSP00000350518:P295L	ENSP00000350518:P295L	P	-	2	0	G3BP2	76791311	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.873000	0.98535	0.561000	0.74099	CCA		0.343	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		A	76572287	G	A	76572287	3	1	579	1	0	0	0	0	1	0	0	0	6144	1348	47	2	477	2	G3BP2	4	76572287	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	6210800	76572287	114581989	18	31626											
DCHS2	54798	hgsc.bcm.edu;ucsc.edu	37	4	155157548	155157548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr4:155157548delA	ENST00000357232.4	-	25	6890	c.6891delT	c.(6889-6891)tttfs	p.F2297fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2297	Cadherin 20. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACACAACTGCAAAAGAAAAAT	0.368																																																0													86	83	84					4																	155157548		2203	4300	6503	SO:0001589	frameshift_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6891delT	4.37:g.155157548delA	ENSP00000349768:p.Phe2297fs		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	ENST00000357232.4	37	CCDS3785.1																																																																																				0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		-	155157548	A	-	155157548	7	5	579	1	0	1	0	1	0	0	0	0	4290	127	5	0	1863	0	DCHS2	4	155157548	Frame_Shift_Del	DEL	A	TCGA-CZ-4865-01A-02D-1501-10	78585261	155157548	35996728	19	31627											
GZMK	3003	hgsc.bcm.edu;ucsc.edu	37	5	54326407	54326407	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr5:54326407G>A	ENST00000231009.2	+	3	428	c.358G>A	c.(358-360)Gtt>Att	p.V120I	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	120	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TATCATGCTGGTTAAGGTAGG	0.348																																																0													152	147	149					5																	54326407		2203	4300	6503	SO:0001583	missense	3003			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.358G>A	5.37:g.54326407G>A	ENSP00000231009:p.Val120Ile		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	9.287	1.049590	0.19827	.	.	ENSG00000113088	ENST00000231009	D	0.88046	-2.33	4.79	-0.282	0.12878	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.355674	0.25978	N	0.027096	T	0.57051	0.2027	N	0.01134	-0.995	0.24628	N	0.993632	B	0.02656	0.0	B	0.10450	0.005	T	0.57027	-0.7881	10	0.02654	T	1	.	7.3771	0.26835	0.6178:0.0:0.3822:0.0	.	120	P49863	GRAK_HUMAN	I	120	ENSP00000231009:V120I	ENSP00000231009:V120I	V	+	1	0	GZMK	54362164	0.979000	0.34478	0.994000	0.49952	0.417000	0.31264	0.305000	0.19254	0.036000	0.15547	0.655000	0.94253	GTT		0.348	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		A	54326407	G	A	54326407	3	1	579	1	0	0	0	0	1	0	0	0	6920	1261	44	2	368	2	GZMK	5	54326407	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10		54326407	126588853	20	31628											
AQPEP	206338	hgsc.bcm.edu;ucsc.edu	37	5	115350147	115350147	+	Silent	SNP	G	G	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr5:115350147G>A	ENST00000357872.4	+	16	2497	c.2373G>A	c.(2371-2373)gcG>gcA	p.A791A	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		791						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TTGTAACTGCGTGTTGGTTGG	0.363																																																0													119	114	116					5																	115350147		2202	4300	6502	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.2373G>A	5.37:g.115350147G>A			A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	CCDS4124.1																																																																																				0.363	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			A	115350147	G	A	115350147	2	1	579	1	0	0	0	0	0	0	0	1	834	1132	40	1		1	AQPEP	5	115350147	Silent	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	61023740	115350147	65565113	21	31629											
FAM65B	9750	hgsc.bcm.edu;ucsc.edu	37	6	24843341	24843341	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr6:24843341C>G	ENST00000259698.4	-	14	1844	c.1669G>C	c.(1669-1671)Gac>Cac	p.D557H	FAM65B_ENST00000510784.2_Missense_Mutation_p.D541H|FAM65B_ENST00000538035.1_Missense_Mutation_p.D536H|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000378023.4_Missense_Mutation_p.D507H|FAM65B_ENST00000540914.1_Missense_Mutation_p.D507H	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	557					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCCGAAGTGTCCAGTTCCACA	0.547																																																0													163	164	163					6																	24843341		1999	4185	6184	SO:0001583	missense	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1669G>C	6.37:g.24843341C>G	ENSP00000259698:p.Asp557His		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840422	0.51057	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.65018	-0.6270	10	0.54805	T	0.06	-35.184	19.6853	0.95977	0.0:1.0:0.0:0.0	.	541;536;507;557	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	H	557;536;507;507;541	ENSP00000259698:D557H;ENSP00000441138:D536H;ENSP00000367262:D507H;ENSP00000438425:D507H;ENSP00000441305:D541H	ENSP00000259698:D557H	D	-	1	0	FAM65B	24951320	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	7.294000	0.78760	2.642000	0.89623	0.655000	0.94253	GAC		0.547	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			G	24843341	C	G	24843341	3	3	579	1	0	0	0	0	1	0	0	0	5602	855	30	4	1587	4	FAM65B	6	24843341	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10		24843341	146271726	22	31630											
PKHD1	5314	hgsc.bcm.edu;ucsc.edu	37	6	51609213	51609213	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr6:51609213C>A	ENST00000371117.3	-	60	10401	c.10126G>T	c.(10126-10128)Gca>Tca	p.A3376S	PKHD1_ENST00000340994.4_Missense_Mutation_p.A3376S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3376					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCCATTCTGCCTCTGTTTTA	0.473																																																0													147	144	145					6																	51609213		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10126G>T	6.37:g.51609213C>A	ENSP00000360158:p.Ala3376Ser		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347999	0.24426	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86956	-1.98;-2.19	5.21	4.21	0.49690	.	0.361008	0.26467	N	0.024214	T	0.60779	0.2295	N	0.13043	0.29	0.22835	N	0.998674	B;B;B	0.13594	0.005;0.008;0.005	B;B;B	0.13407	0.004;0.009;0.006	T	0.45086	-0.9285	10	0.24483	T	0.36	.	10.582	0.45261	0.368:0.632:0.0:0.0	.	3376;3376;3376	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	S	3376	ENSP00000360158:A3376S;ENSP00000341097:A3376S	ENSP00000341097:A3376S	A	-	1	0	PKHD1	51717172	0.025000	0.19082	0.896000	0.35187	0.748000	0.42578	2.689000	0.46993	2.615000	0.88500	0.650000	0.86243	GCA		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		A	51609213	C	A	51609213	3	1	579	1	0	0	0	0	1	0	0	0	11973	739	26	4	2169	4	PKHD1	6	51609213	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	26765872	51609213	119505854	23	31631											
TTK	7272	hgsc.bcm.edu;ucsc.edu	37	6	80746291	80746291	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr6:80746291C>A	ENST00000369798.2	+	17	2135	c.2024C>A	c.(2023-2025)aCa>aAa	p.T675K	TTK_ENST00000509894.1_Missense_Mutation_p.T674K|TTK_ENST00000230510.3_Missense_Mutation_p.T674K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	675	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAACCAGATACAACAAGTGTT	0.343																																																0													127	121	123					6																	80746291		2202	4299	6501	SO:0001583	missense	7272				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2024C>A	6.37:g.80746291C>A	ENSP00000358813:p.Thr675Lys		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341432	0.60963	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.64260	-0.09;-0.09;-0.09	6.08	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110621	0.64402	D	0.000005	T	0.27419	0.0673	N	0.20530	0.585	0.38935	D	0.958026	B;B	0.22683	0.045;0.073	B;B	0.18263	0.021;0.016	T	0.33369	-0.9871	10	0.59425	D	0.04	-27.5677	4.646	0.12572	0.0:0.7395:0.0:0.2605	.	675;674	P33981;A8K8U5	TTK_HUMAN;.	K	674;674;675	ENSP00000422936:T674K;ENSP00000230510:T674K;ENSP00000358813:T675K	ENSP00000230510:T674K	T	+	2	0	TTK	80803010	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.893000	0.69798	2.894000	0.99253	0.591000	0.81541	ACA		0.343	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			A	80746291	C	A	80746291	3	1	579	1	0	0	0	0	1	0	0	0	16725	478	17	4	2086	4	TTK	6	80746291	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	29137078	80746291	90368776	24	31632											
FAM162B	221303	hgsc.bcm.edu;ucsc.edu	37	6	117083156	117083156	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr6:117083156A>G	ENST00000368557.4	-	3	520	c.374T>C	c.(373-375)aTa>aCa	p.I125T		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	125						integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						GGCTGACACTATCACAGCAAA	0.403																																																0													177	169	171					6																	117083156		1908	4125	6033	SO:0001583	missense	221303			BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 189"	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.374T>C	6.37:g.117083156A>G	ENSP00000357545:p.Ile125Thr		Q8IXW8	Missense_Mutation	SNP	ENST00000368557.4	37	CCDS43497.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.321591	0.23994	.	.	ENSG00000183807	ENST00000368557	T	0.38887	1.11	4.48	3.29	0.37713	.	0.066621	0.56097	D	0.000021	T	0.44030	0.1274	M	0.72118	2.19	0.39726	D	0.971548	D	0.55605	0.972	P	0.57204	0.815	T	0.50457	-0.8826	10	0.87932	D	0	-12.8342	10.5254	0.44945	0.8367:0.1632:0.0:0.0	.	125	Q5T6X4	F162B_HUMAN	T	125	ENSP00000357545:I125T	ENSP00000357545:I125T	I	-	2	0	FAM162B	117189849	1.000000	0.71417	0.494000	0.27515	0.016000	0.09150	6.171000	0.71926	0.838000	0.34948	-0.321000	0.08615	ATA		0.403	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381		G	117083156	A	G	117083156	3	3	579	1	0	0	0	0	1	0	0	0	5477	449	16	3	122	3	FAM162B	6	117083156	Missense_Mutation	SNP	A	TCGA-CZ-4865-01A-02D-1501-10	36336865	117083156	54031911	25	31633											
AKAP12	9590	hgsc.bcm.edu;ucsc.edu	37	6	151670340	151670340	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr6:151670340delA	ENST00000253332.1	+	3	1003	c.814delA	c.(814-816)aaafs	p.K272fs	AKAP12_ENST00000354675.6_Frame_Shift_Del_p.K174fs|AKAP12_ENST00000402676.2_Frame_Shift_Del_p.K272fs|AKAP12_ENST00000359755.5_Frame_Shift_Del_p.K167fs|snoU13_ENST00000458767.1_RNA			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	272	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGAGAAGAGAAACAAGAAAA	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)											0													47	52	50					6																	151670340		2203	4300	6503	SO:0001589	frameshift_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.814delA	6.37:g.151670340delA	ENSP00000253332:p.Lys272fs		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Del	DEL	ENST00000253332.1	37	CCDS5229.1																																																																																				0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			-	151670340	A	-	151670340	7	5	579	1	0	1	0	1	0	0	0	0	448	247	9	0	853	0	AKAP12	6	151670340	Frame_Shift_Del	DEL	A	TCGA-CZ-4865-01A-02D-1501-10	34587184	151670340	19444727	26	31634											
C6orf211	79624	hgsc.bcm.edu;ucsc.edu	37	6	151789551	151789551	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr6:151789551T>C	ENST00000367294.3	+	5	891	c.632T>C	c.(631-633)cTa>cCa	p.L211P	C6orf211_ENST00000545879.1_Missense_Mutation_p.L92P	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	211										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ACCAATGTACTAAATTCATTG	0.333																																																0													79	84	82					6																	151789551		2203	4300	6503	SO:0001583	missense	79624			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.632T>C	6.37:g.151789551T>C	ENSP00000356263:p.Leu211Pro		Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247160	0.22796	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.06849	3.25;3.25	5.69	5.69	0.88448	Domain of unknown function DUF89 (2);	0.464512	0.23577	N	0.046698	T	0.11324	0.0276	M	0.74647	2.275	0.28872	N	0.894872	P	0.35793	0.521	P	0.47162	0.54	T	0.08229	-1.0732	10	0.34782	T	0.22	.	15.9458	0.79792	0.0:0.0:0.0:1.0	.	211	Q9H993	CF211_HUMAN	P	211;92	ENSP00000356263:L211P;ENSP00000444121:L92P	ENSP00000356263:L211P	L	+	2	0	C6orf211	151831244	0.982000	0.34865	0.003000	0.11579	0.049000	0.14656	7.963000	0.87922	2.162000	0.67917	0.459000	0.35465	CTA		0.333	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		C	151789551	T	C	151789551	3	2	579	1	0	0	0	0	1	0	0	0	2356	1522	53	3	650	3	C6orf211	6	151789551	Missense_Mutation	SNP	T	TCGA-CZ-4865-01A-02D-1501-10	119211	151789551	19325516	27	31635											
PLG	5340	hgsc.bcm.edu;ucsc.edu	37	6	161134106	161134106	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr6:161134106A>T	ENST00000308192.9	+	5	559	c.496A>T	c.(496-498)Act>Tct	p.T166S	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	166	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTGGTGCTATACTACTGATCC	0.493																																																0													146	143	144					6																	161134106		2203	4300	6503	SO:0001583	missense	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.496A>T	6.37:g.161134106A>T	ENSP00000308938:p.Thr166Ser		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814674	0.70912	.	.	ENSG00000122194	ENST00000308192	T	0.70516	-0.49	5.11	5.11	0.69529	Kringle (4);Kringle-like fold (1);	0.000000	0.40385	U	0.001104	D	0.86863	0.6035	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91005	0.4845	10	0.87932	D	0	.	14.1696	0.65500	1.0:0.0:0.0:0.0	.	166	P00747	PLMN_HUMAN	S	166	ENSP00000308938:T166S	ENSP00000308938:T166S	T	+	1	0	PLG	161054096	1.000000	0.71417	0.919000	0.36401	0.137000	0.21094	8.584000	0.90798	2.054000	0.61138	0.528000	0.53228	ACT		0.493	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161134106	A	T	161134106	3	4	579	1	0	0	0	0	1	0	0	0	12088	391	14	5	518	5	PLG	6	161134106	Missense_Mutation	SNP	A	TCGA-CZ-4865-01A-02D-1501-10	9344555	161134106	9980961	28	31636											
STK31	56164	hgsc.bcm.edu;ucsc.edu	37	7	23827642	23827642	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr7:23827642C>G	ENST00000355870.3	+	21	2650	c.2531C>G	c.(2530-2532)aCa>aGa	p.T844R	STK31_ENST00000428484.1_Missense_Mutation_p.T821R|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.T844R|STK31_ENST00000354639.3_Missense_Mutation_p.T821R	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	844	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGTCTGCATACATTGCATAAG	0.358																																																0													160	148	152					7																	23827642		2203	4300	6503	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2531C>G	7.37:g.23827642C>G	ENSP00000348132:p.Thr844Arg		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638495	0.47153	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.180279	0.49916	D	0.000131	T	0.64283	0.2584	N	0.20766	0.605	0.37765	D	0.926482	D;D;D	0.71674	0.997;0.998;0.994	D;D;D	0.72338	0.959;0.977;0.917	T	0.63778	-0.6560	10	0.27082	T	0.32	-12.1101	13.0262	0.58817	0.0:0.9259:0.0:0.0741	.	844;844;844	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	R	844;844;821;821	ENSP00000348132:T844R;ENSP00000411852:T844R;ENSP00000346660:T821R;ENSP00000406146:T821R	ENSP00000346660:T821R	T	+	2	0	STK31	23794167	0.988000	0.35896	1.000000	0.80357	0.905000	0.53344	2.455000	0.44988	2.764000	0.94973	0.650000	0.86243	ACA		0.358	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		G	23827642	C	G	23827642	3	3	579	1	0	0	0	0	1	0	0	0	15301	478	17	4	2613	4	STK31	7	23827642	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10		23827642	135311021	29	31637											
SFRP4	6424	hgsc.bcm.edu;ucsc.edu	37	7	37953984	37953984	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr7:37953984G>C	ENST00000436072.2	-	2	894	c.517C>G	c.(517-519)Cta>Gta	p.L173V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	173					brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCGGGGCTTAGGCGTTTACAG	0.463																																																0													178	157	164					7																	37953984		2203	4300	6503	SO:0001583	missense	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.517C>G	7.37:g.37953984G>C	ENSP00000410715:p.Leu173Val		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	3.772	-0.047334	0.07407	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.64085	-0.08;0.87	5.66	3.83	0.44106	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.449411	0.26590	N	0.023539	T	0.39279	0.1072	N	0.22421	0.69	0.25971	N	0.982505	B	0.24132	0.098	B	0.14023	0.01	T	0.15838	-1.0423	10	0.17369	T	0.5	.	4.4128	0.11441	0.2337:0.0:0.6045:0.1618	.	173	Q6FHJ7	SFRP4_HUMAN	V	173;170;39	ENSP00000410715:L173V;ENSP00000402262:L39V	ENSP00000410715:L173V	L	-	1	2	SFRP4	37920509	0.998000	0.40836	1.000000	0.80357	0.908000	0.53690	1.518000	0.35877	0.712000	0.32039	0.655000	0.94253	CTA		0.463	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		C	37953984	G	C	37953984	3	2	579	1	0	0	0	0	1	0	0	0	14169	991	35	4	543	4	SFRP4	7	37953984	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	14126342	37953984	121184679	30	31638											
HECW1	23072	hgsc.bcm.edu;ucsc.edu	37	7	43351595	43351595	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr7:43351595C>A	ENST00000395891.2	+	4	866	c.261C>A	c.(259-261)taC>taA	p.Y87*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.Y87*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	87					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAGCTCCTACTATTCCATCG	0.607																																																0													72	79	77					7																	43351595		2116	4243	6359	SO:0001587	stop_gained	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.261C>A	7.37:g.43351595C>A	ENSP00000379228:p.Tyr87*		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	36	5.876188	0.97055	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.87	4.05	0.47172	.	0.307065	0.37577	N	0.002038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	8.0523	0.30585	0.1359:0.7355:0.0:0.1285	.	.	.	.	X	87;87;86	.	ENSP00000265522:Y86X	Y	+	3	2	HECW1	43318120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.525000	0.45598	1.462000	0.47948	0.655000	0.94253	TAC		0.607	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		A	43351595	C	A	43351595	4	1	579	1	0	0	0	0	0	1	0	0	7044	576	20	4	267	4	HECW1	7	43351595	Nonsense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	5397611	43351595	115787068	31	31639											
NCAPG2	54892	hgsc.bcm.edu;ucsc.edu	37	7	158457439	158457439	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr7:158457439delA	ENST00000409423.1	-	15	1655	c.1483delT	c.(1483-1485)tggfs	p.W495fs	NCAPG2_ENST00000275830.10_Frame_Shift_Del_p.W287fs|NCAPG2_ENST00000409339.3_Frame_Shift_Del_p.W495fs|NCAPG2_ENST00000356309.3_Frame_Shift_Del_p.W495fs|NCAPG2_ENST00000541468.1_5'UTR|NCAPG2_ENST00000449727.2_Frame_Shift_Del_p.W495fs	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	495					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CATATTTTCCAAAACTGTGCA	0.428																																																0													40	41	41					7																	158457439		1933	4145	6078	SO:0001589	frameshift_variant	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1483delT	7.37:g.158457439delA	ENSP00000386569:p.Trp495fs		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Frame_Shift_Del	DEL	ENST00000409423.1	37	CCDS43686.1																																																																																				0.428	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		-	158457439	A	-	158457439	7	5	579	1	0	1	0	1	0	0	0	0	10210	130	5	0	2008	0	NCAPG2	7	158457439	Frame_Shift_Del	DEL	A	TCGA-CZ-4865-01A-02D-1501-10	115105844	158457439	681224	32	31640											
FUT10	84750	hgsc.bcm.edu;ucsc.edu	37	8	33246865	33246865	+	Silent	SNP	A	A	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr8:33246865A>G	ENST00000327671.5	-	4	1459	c.828T>C	c.(826-828)ttT>ttC	p.F276F	FUT10_ENST00000524021.1_Silent_p.F248F|FUT10_ENST00000335589.3_Silent_p.F214F|FUT10_ENST00000518672.1_Silent_p.F248F|FUT10_ENST00000518076.1_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	276					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AAGCTAGGATAAACTTATACT	0.443																																																0													101	94	96					8																	33246865		2203	4300	6503	SO:0001819	synonymous_variant	84750			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.828T>C	8.37:g.33246865A>G			A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Silent	SNP	ENST00000327671.5	37	CCDS6088.1																																																																																				0.443	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		G	33246865	A	G	33246865	2	3	579	1	0	0	0	0	0	0	0	1	6104	359	13	3		3	FUT10	8	33246865	Silent	SNP	A	TCGA-CZ-4865-01A-02D-1501-10		33246865	113117157	33	31641											
ITIH5	80760	hgsc.bcm.edu;ucsc.edu	37	10	7627983	7627983	+	Missense_Mutation	SNP	C	C	T	rs529878669		TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr10:7627983C>T	ENST00000256861.6	-	8	1067	c.989G>A	c.(988-990)cGt>cAt	p.R330H	ITIH5_ENST00000298441.6_Missense_Mutation_p.R116H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.R330H|ITIH5_ENST00000397146.2_Missense_Mutation_p.R330H|ITIH5_ENST00000446830.2_Missense_Mutation_p.R112H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	330	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R330H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GATACTGAAACGGTCCTGGGG	0.473																																																1	Substitution - Missense(1)	large_intestine(1)											148	127	134					10																	7627983		2203	4300	6503	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.989G>A	10.37:g.7627983C>T	ENSP00000256861:p.Arg330His		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	C	0.568	-0.842188	0.02671	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08	5.3	-4.52	0.03472	von Willebrand factor, type A (3);	0.446927	0.26623	N	0.023357	T	0.72112	0.3420	.	.	.	0.20403	N	0.999908	B;B;B	0.12013	0.005;0.004;0.003	B;B;B	0.15052	0.012;0.003;0.002	T	0.55970	-0.8056	9	0.12103	T	0.63	-5.4197	13.2689	0.60150	0.0:0.2223:0.0:0.7777	.	330;330;116	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	H	330;330;116;112;330	ENSP00000256861:R330H;ENSP00000380333:R330H;ENSP00000298441:R116H;ENSP00000387969:R112H;ENSP00000380332:R330H	ENSP00000256861:R330H	R	-	2	0	ITIH5	7667989	0.017000	0.18338	0.009000	0.14445	0.699000	0.40488	-0.105000	0.10907	-1.191000	0.02695	-0.997000	0.02515	CGT		0.473	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		T	7627983	C	T	7627983	3	4	579	1	0	0	0	0	1	0	0	0	7909	536	19	1	1990	1	ITIH5	10	7627983	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10		7627983	127906764	34	31642											
AGAP7	653268	hgsc.bcm.edu	37	10	51485991	51485991	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr10:51485991delC	ENST00000374095.5	-	1	336	c.211delG	c.(211-213)gagfs	p.E71fs		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		71					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCAGGCATCTCCCGGTCACGA	0.592																																																0													1	1	1					10																	51485991		7	1	8	SO:0001589	frameshift_variant	653268																														ENST00000374095.5:c.211delG	10.37:g.51485991delC	ENSP00000363208:p.Glu71fs		A6NGH4	Frame_Shift_Del	DEL	ENST00000374095.5	37	CCDS41524.1																																																																																				0.592	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			-	51485991	C	-	51485991	7	5	579	1	0	1	0	1	0	0	0	0	373	864	30	0	1808	0	AGAP7	10	51485991	Frame_Shift_Del	DEL	C	TCGA-CZ-4865-01A-02D-1501-10	43858008	51485991	84048756	35	31643											
KIF20B	9585	hgsc.bcm.edu;ucsc.edu	37	10	91497621	91497621	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr10:91497621A>G	ENST00000371728.3	+	20	3088	c.3023A>G	c.(3022-3024)aAt>aGt	p.N1008S	KIF20B_ENST00000394289.2_Missense_Mutation_p.N1008S|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.N1038S|KIF20B_ENST00000260753.4_Missense_Mutation_p.N968S	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1008					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATTTGCTCAATCTCAGGGAT	0.318																																																0													60	64	63					10																	91497621		2203	4299	6502	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3023A>G	10.37:g.91497621A>G	ENSP00000360793:p.Asn1008Ser		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	A	1.288	-0.608536	0.03717	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.69040	-0.29;-0.32;-0.37;-0.31	5.69	-0.949	0.10376	.	0.458672	0.20462	N	0.091875	T	0.53562	0.1804	L	0.53249	1.67	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.40646	-0.9552	10	0.28530	T	0.3	-1.644	7.5967	0.28052	0.5218:0.0:0.3746:0.1036	.	1008;968	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	S	968;1038;1008;1008	ENSP00000260753:N968S;ENSP00000411545:N1038S;ENSP00000377830:N1008S;ENSP00000360793:N1008S	ENSP00000260753:N968S	N	+	2	0	KIF20B	91487601	0.000000	0.05858	0.187000	0.23214	0.251000	0.25915	0.111000	0.15458	0.039000	0.15632	-1.039000	0.02377	AAT		0.318	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		G	91497621	A	G	91497621	3	3	579	1	0	0	0	0	1	0	0	0	8289	101	4	3	2977	3	KIF20B	10	91497621	Missense_Mutation	SNP	A	TCGA-CZ-4865-01A-02D-1501-10	40011630	91497621	44037126	36	31644											
PLCE1	51196	hgsc.bcm.edu;ucsc.edu	37	10	95791806	95791806	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr10:95791806G>T	ENST00000371380.3	+	1	1238	c.1003G>T	c.(1003-1005)Gaa>Taa	p.E335*	PLCE1_ENST00000260766.3_Nonsense_Mutation_p.E335*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	335					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAATGACAGAGAAGTTAAGAA	0.408																																																0													87	87	87					10																	95791806		1864	4103	5967	SO:0001587	stop_gained	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1003G>T	10.37:g.95791806G>T	ENSP00000360431:p.Glu335*		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	44	11.274072	0.99539	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	.	.	.	5.28	4.38	0.52667	.	0.091756	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	11.235	0.48936	0.1468:0.0:0.8532:0.0	.	.	.	.	X	335	.	ENSP00000260766:E335X	E	+	1	0	PLCE1	95781796	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	3.823000	0.55715	1.241000	0.43820	-0.137000	0.14449	GAA		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		T	95791806	G	T	95791806	4	4	579	1	0	0	0	0	0	1	0	0	12036	943	33	4	1005	4	PLCE1	10	95791806	Nonsense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	4294185	95791806	39742941	37	31645											
OR5B12	390191	hgsc.bcm.edu;ucsc.edu	37	11	58207098	58207098	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr11:58207098A>T	ENST00000302572.2	-	1	548	c.527T>A	c.(526-528)tTc>tAc	p.F176Y		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGCATCACAGAAAAAGTGTTC	0.423																																																0													104	95	98					11																	58207098		2201	4295	6496	SO:0001583	missense	390191			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.527T>A	11.37:g.58207098A>T	ENSP00000306657:p.Phe176Tyr		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467313	0.43839	.	.	ENSG00000172362	ENST00000302572	T	0.00249	8.44	4.3	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000065	T	0.00384	0.0012	M	0.66506	2.035	0.25192	N	0.990123	D	0.69078	0.997	D	0.66196	0.942	T	0.51458	-0.8703	10	0.30854	T	0.27	-21.3611	8.8739	0.35334	0.704:0.0:0.0:0.296	.	176	Q96R08	OR5BC_HUMAN	Y	176	ENSP00000306657:F176Y	ENSP00000306657:F176Y	F	-	2	0	OR5B12	57963674	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.672000	0.46850	0.750000	0.32877	0.379000	0.24179	TTC		0.423	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		T	58207098	A	T	58207098	3	4	579	1	0	0	0	0	1	0	0	0	11150	246	9	5	421	5	OR5B12	11	58207098	Missense_Mutation	SNP	A	TCGA-CZ-4865-01A-02D-1501-10		58207098	76799418	38	31646											
AASDHPPT	60496	hgsc.bcm.edu;ucsc.edu	37	11	105967561	105967561	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr11:105967561C>T	ENST00000278618.4	+	6	1079	c.857C>T	c.(856-858)cCt>cTt	p.P286L	RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	286					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		CCCATGACACCTGAAGATCCT	0.388																																																0													108	97	101					11																	105967561		2201	4298	6499	SO:0001583	missense	60496			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.857C>T	11.37:g.105967561C>T	ENSP00000278618:p.Pro286Leu		B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857715	0.51376	.	.	ENSG00000149313	ENST00000278618	.	.	.	5.5	4.59	0.56863	.	0.349676	0.33916	N	0.004429	T	0.39545	0.1082	N	0.12182	0.205	0.41564	D	0.988649	B	0.14012	0.009	B	0.20955	0.032	T	0.33523	-0.9865	9	0.54805	T	0.06	.	11.7035	0.51585	0.0:0.9176:0.0:0.0824	.	286	Q9NRN7	ADPPT_HUMAN	L	286	.	ENSP00000278618:P286L	P	+	2	0	AASDHPPT	105472771	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.278000	0.43426	2.589000	0.87451	0.650000	0.86243	CCT		0.388	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		T	105967561	C	T	105967561	3	4	579	1	0	0	0	0	1	0	0	0	23	681	24	2	879	2	AASDHPPT	11	105967561	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	47760463	105967561	29038955	39	31647											
MLL	4297	hgsc.bcm.edu;ucsc.edu	37	11	118375051	118375051	+	Missense_Mutation	SNP	C	C	A	rs545159100		TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr11:118375051C>A	ENST00000389506.5	+	27	8435	c.8435C>A	c.(8434-8436)aCa>aAa	p.T2812K	KMT2A_ENST00000354520.4_Missense_Mutation_p.T2774K|KMT2A_ENST00000534358.1_Missense_Mutation_p.T2815K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2812					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGAGTCCACACAAGTACCCCC	0.443																																																0													88	92	91					11																	118375051		2200	4296	6496	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8435C>A	11.37:g.118375051C>A	ENSP00000374157:p.Thr2812Lys		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318772	0.23994	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82081	-1.57;-1.57;-1.54	6.17	6.17	0.99709	.	0.093009	0.52532	D	0.000068	T	0.74596	0.3737	N	0.22421	0.69	0.38082	D	0.936693	B;B	0.32245	0.361;0.361	B;B	0.24541	0.054;0.054	T	0.76179	-0.3054	10	0.72032	D	0.01	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	2815;2812	E9PQG7;Q03164	.;MLL1_HUMAN	K	2815;2812;2774;1722	ENSP00000436786:T2815K;ENSP00000374157:T2812K;ENSP00000346516:T2774K	ENSP00000346516:T2774K	T	+	2	0	MLL	117880261	0.998000	0.40836	1.000000	0.80357	0.891000	0.51852	3.365000	0.52335	2.941000	0.99782	0.655000	0.94253	ACA		0.443	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		A	118375051	C	A	118375051	3	1	579	1	0	0	0	0	1	0	0	0	9622	478	17	4	8541	4	MLL	11	118375051	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	12407490	118375051	16631465	40	31648											
GTSF1	121355	hgsc.bcm.edu;ucsc.edu	37	12	54856986	54856986	+	Silent	SNP	A	A	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr12:54856986A>G	ENST00000552397.1	-	4	1109	c.213T>C	c.(211-213)tgT>tgC	p.C71C	RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Silent_p.C71C|GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	71						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TTCTGTCATCACAGCTTGAGA	0.403																																																0													118	107	111					12																	54856986		2203	4300	6503	SO:0001819	synonymous_variant	121355			AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"family with sequence similarity 112, member B"	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.213T>C	12.37:g.54856986A>G			B3KQ60|Q0VGM4|Q8N778	Silent	SNP	ENST00000552397.1	37	CCDS8881.1																																																																																				0.403	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	NM_144594		G	54856986	A	G	54856986	2	3	579	1	0	0	0	0	0	0	0	1	6888	157	6	3		3	GTSF1	12	54856986	Silent	SNP	A	TCGA-CZ-4865-01A-02D-1501-10		54856986	78994909	41	31649											
CDK2	1017	hgsc.bcm.edu;ucsc.edu	37	12	56360850	56360850	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr12:56360850A>G	ENST00000266970.4	+	1	298	c.58A>G	c.(58-60)Aaa>Gaa	p.K20E	PMEL_ENST00000550447.1_5'Flank|PMEL_ENST00000550464.1_5'Flank|CDK2_ENST00000440311.2_Missense_Mutation_p.K20E|PMEL_ENST00000548493.1_5'Flank|CDK2_ENST00000354056.4_Missense_Mutation_p.K20E|PMEL_ENST00000548747.1_5'Flank|PMEL_ENST00000552882.1_5'Flank|RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000548689.1_5'Flank|CDK2_ENST00000553376.1_Missense_Mutation_p.K20E|PMEL_ENST00000360714.4_5'Flank|PMEL_ENST00000536427.1_5'Flank|PMEL_ENST00000449260.2_5'Flank|PMEL_ENST00000539511.1_5'Flank	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	20	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	AGTTGTGTACAAAGCCAGAAA	0.597																																																0													138	130	133					12																	56360850		2203	4300	6503	SO:0001583	missense	1017			M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"Cyclin-dependent kinases"	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.58A>G	12.37:g.56360850A>G	ENSP00000266970:p.Lys20Glu		A8K7C6|O75100	Missense_Mutation	SNP	ENST00000266970.4	37	CCDS8898.1	.	.	.	.	.	.	.	.	.	.	A	35	5.467755	0.96257	.	.	ENSG00000123374	ENST00000266970;ENST00000553376;ENST00000440311;ENST00000354056	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	4.65	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	L	0.58969	1.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80525	-0.1344	10	0.87932	D	0	-7.7538	13.4748	0.61301	1.0:0.0:0.0:0.0	.	20;20;20	E7ESI2;P24941-2;P24941	.;.;CDK2_HUMAN	E	20	ENSP00000266970:K20E;ENSP00000452514:K20E;ENSP00000393605:K20E;ENSP00000243067:K20E	ENSP00000266970:K20E	K	+	1	0	CDK2	54647117	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.123000	0.94387	2.088000	0.63022	0.402000	0.26972	AAA		0.597	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1			G	56360850	A	G	56360850	3	3	579	1	0	0	0	0	1	0	0	0	3138	131	5	3	60	3	CDK2	12	56360850	Missense_Mutation	SNP	A	TCGA-CZ-4865-01A-02D-1501-10	1503864	56360850	77491045	42	31650											
HTR2A	3356	hgsc.bcm.edu;ucsc.edu	37	13	47409628	47409628	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr13:47409628A>G	ENST00000378688.4	-	3	891	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	HTR2A_ENST00000543956.1_Missense_Mutation_p.Y170H|HTR2A_ENST00000542664.1_Missense_Mutation_p.Y254H			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	254					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTTAGAAAGTAGGTGATCACC	0.443																																																0													79	76	77					13																	47409628		2203	4300	6503	SO:0001583	missense	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.760T>C	13.37:g.47409628A>G	ENSP00000367959:p.Tyr254His		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121648	0.77436	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.60424	0.19;0.19;0.19	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84946	0.5585	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90483	0.4461	10	0.87932	D	0	.	15.3729	0.74581	1.0:0.0:0.0:0.0	.	170;254	F5GWE8;P28223	.;5HT2A_HUMAN	H	254;170;254	ENSP00000367959:Y254H;ENSP00000441861:Y170H;ENSP00000437737:Y254H	ENSP00000367959:Y254H	Y	-	1	0	HTR2A	46307629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.287000	0.76781	0.482000	0.46254	TAC		0.443	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		G	47409628	A	G	47409628	3	3	579	1	0	0	0	0	1	0	0	0	7443	420	15	3	659	3	HTR2A	13	47409628	Missense_Mutation	SNP	A	TCGA-CZ-4865-01A-02D-1501-10		47409628	67760250	43	31651											
TUBGCP3	10426	hgsc.bcm.edu;ucsc.edu	37	13	113158951	113158951	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr13:113158951T>C	ENST00000261965.3	-	18	2350	c.2164A>G	c.(2164-2166)Atc>Gtc	p.I722V	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.I722V	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	722					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TCAAATGTGATGTAATACTGC	0.383																																																0													103	88	93					13																	113158951		2203	4300	6503	SO:0001583	missense	10426			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2164A>G	13.37:g.113158951T>C	ENSP00000261965:p.Ile722Val		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294287	0.40594	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08370	3.1;3.1	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	L	0.55481	1.735	0.58432	D	0.999998	B;B;B	0.14012	0.005;0.001;0.009	B;B;B	0.23574	0.032;0.007;0.047	T	0.05818	-1.0862	10	0.31617	T	0.26	-20.7176	14.7282	0.69360	0.0:0.0:0.0:1.0	.	712;722;722	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	V	722	ENSP00000261965:I722V;ENSP00000364821:I722V	ENSP00000261965:I722V	I	-	1	0	TUBGCP3	112206952	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	4.519000	0.60517	1.880000	0.54463	0.524000	0.50904	ATC		0.383	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		C	113158951	T	C	113158951	3	2	579	1	0	0	0	0	1	0	0	0	16772	1464	51	3	579	3	TUBGCP3	13	113158951	Missense_Mutation	SNP	T	TCGA-CZ-4865-01A-02D-1501-10	65749323	113158951	2010927	44	31652											
MPP5	64398	hgsc.bcm.edu;ucsc.edu	37	14	67746078	67746078	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr14:67746078delA	ENST00000261681.4	+	3	852	c.191delA	c.(190-192)gagfs	p.E64fs	MPP5_ENST00000555925.1_Frame_Shift_Del_p.E30fs|MPP5_ENST00000556345.1_Frame_Shift_Del_p.E64fs	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	64	Interaction with PARD6B. {ECO:0000250}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CAACAACAGGAGGACATGAGG	0.488																																																0													131	118	122					14																	67746078		2203	4300	6503	SO:0001589	frameshift_variant	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.191delA	14.37:g.67746078delA	ENSP00000261681:p.Glu64fs		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Frame_Shift_Del	DEL	ENST00000261681.4	37	CCDS9779.1																																																																																				0.488	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		-	67746078	A	-	67746078	7	5	579	1	0	1	0	1	0	0	0	0	9739	304	11	0	193	0	MPP5	14	67746078	Frame_Shift_Del	DEL	A	TCGA-CZ-4865-01A-02D-1501-10		67746078	39603462	45	31653											
CCNK	8812	hgsc.bcm.edu;ucsc.edu	37	14	99969172	99969172	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr14:99969172G>C	ENST00000389879.5	+	8	985	c.862G>C	c.(862-864)Gta>Cta	p.V288L	CCNK_ENST00000555049.1_Missense_Mutation_p.V288L	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	288					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				AGTGCCGCAAGTACAGCAGTC	0.582																																																0													108	135	126					14																	99969172		2132	4248	6380	SO:0001583	missense	8812			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.862G>C	14.37:g.99969172G>C	ENSP00000374529:p.Val288Leu		Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787178	0.49997	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000555049	T;D	0.91180	2.27;-2.8	5.71	5.71	0.89125	.	0.435853	0.24613	N	0.037023	D	0.87815	0.6272	L	0.51422	1.61	0.09310	N	1	B;B	0.20261	0.043;0.021	B;B	0.19946	0.027;0.02	T	0.75216	-0.3396	10	0.26408	T	0.33	-5.7999	15.4687	0.75422	0.0:0.0:0.8609:0.1391	.	288;288	O75909;O75909-2	CCNK_HUMAN;.	L	288;290;290;288;288	ENSP00000374529:V288L;ENSP00000452307:V288L	ENSP00000216279:V290L	V	+	1	0	CCNK	99038925	1.000000	0.71417	0.039000	0.18376	0.809000	0.45718	3.964000	0.56780	2.709000	0.92574	0.655000	0.94253	GTA		0.582	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			C	99969172	G	C	99969172	3	2	579	1	0	0	0	0	1	0	0	0	2932	1029	36	4	888	4	CCNK	14	99969172	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	32223094	99969172	7380368	46	31654											
AAGAB	79719	hgsc.bcm.edu;ucsc.edu	37	15	67496448	67496448	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr15:67496448G>A	ENST00000261880.5	-	8	858	c.754C>T	c.(754-756)Ctt>Ttt	p.L252F	AAGAB_ENST00000561452.1_Missense_Mutation_p.L143F|AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000542650.1_Missense_Mutation_p.L143F	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	252					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCAGTGGTAAGACTGGCTAAT	0.368																																																0													128	117	120					15																	67496448		1868	4114	5982	SO:0001583	missense	79719			AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.754C>T	15.37:g.67496448G>A	ENSP00000261880:p.Leu252Phe		B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619848	0.87460	.	.	ENSG00000103591	ENST00000261880;ENST00000538028;ENST00000542650	T;T	0.52057	0.72;0.68	5.44	5.44	0.79542	.	0.061128	0.64402	N	0.000002	T	0.66366	0.2782	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66356	-0.5944	10	0.51188	T	0.08	-13.7114	16.1796	0.81890	0.0:0.0:1.0:0.0	.	252	Q6PD74	AAGAB_HUMAN	F	252;12;143	ENSP00000261880:L252F;ENSP00000440735:L143F	ENSP00000261880:L252F	L	-	1	0	AAGAB	65283502	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	8.342000	0.90049	2.562000	0.86427	0.491000	0.48974	CTT		0.368	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		A	67496448	G	A	67496448	3	1	579	1	0	0	0	0	1	0	0	0	15	942	33	2	205	2	AAGAB	15	67496448	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10		67496448	35034944	47	31655											
ULK3	25989	hgsc.bcm.edu;ucsc.edu	37	15	75134635	75134635	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr15:75134635G>C	ENST00000440863.2	-	2	320	c.229C>G	c.(229-231)Ctg>Gtg	p.L77V	ULK3_ENST00000569437.1_Missense_Mutation_p.L77V|ULK3_ENST00000568667.1_Missense_Mutation_p.L88V	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						AAGTCTTTCAGCTGCACAATG	0.552																																																0													118	118	118					15																	75134635		1997	4157	6154	SO:0001583	missense	25989			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.229C>G	15.37:g.75134635G>C	ENSP00000400312:p.Leu77Val		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843677	0.91197	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.32753	1.44	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.53948	0.1828	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.85130	0.978;0.994;0.997	T	0.55315	-0.8160	10	0.72032	D	0.01	-8.3553	18.0244	0.89264	0.0:0.0:1.0:0.0	.	88;77;77	B4DFT0;Q6PHR2;Q6PHR2-3	.;ULK3_HUMAN;.	V	77;88	ENSP00000400312:L77V	ENSP00000393658:L88V	L	-	1	2	ULK3	72921688	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.081000	0.94049	2.495000	0.84180	0.655000	0.94253	CTG		0.552	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		C	75134635	G	C	75134635	3	2	579	1	0	0	0	0	1	0	0	0	16982	962	34	4	1249	4	ULK3	15	75134635	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	7638187	75134635	27396757	48	31656											
C15orf42	90381	hgsc.bcm.edu;ucsc.edu	37	15	90128974	90128974	+	Silent	SNP	C	C	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr15:90128974C>T	ENST00000268138.7	+	4	1317	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	TICRR_ENST00000560985.1_Silent_p.P403P|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	404					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCCGGCCCCCCATCACTGGAG	0.483																																																0													64	66	65					15																	90128974		1951	4138	6089	SO:0001819	synonymous_variant	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1212C>T	15.37:g.90128974C>T			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	CCDS10352.2																																																																																				0.483	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		T	90128974	C	T	90128974	2	4	579	1	0	0	0	0	0	0	0	1	1798	581	21	2		2	C15orf42	15	90128974	Silent	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	14994339	90128974	12402418	49	31657											
LINS1	55180	hgsc.bcm.edu;ucsc.edu	37	15	101110153	101110153	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr15:101110153C>G	ENST00000314742.8	-	7	1786	c.1564G>C	c.(1564-1566)Gaa>Caa	p.E522Q	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	522										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						ACAAAATATTCAAGAAAACAG	0.284																																																0													27	28	28					15																	101110153		2199	4299	6498	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1564G>C	15.37:g.101110153C>G	ENSP00000318423:p.Glu522Gln		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506303	0.85282	.	.	ENSG00000140471	ENST00000314742	T	0.19669	2.13	5.56	5.56	0.83823	.	0.112655	0.56097	D	0.000026	T	0.47322	0.1439	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.41822	-0.9487	10	0.87932	D	0	-26.5827	19.534	0.95242	0.0:1.0:0.0:0.0	.	522	Q8NG48	LINES_HUMAN	Q	522	ENSP00000318423:E522Q	ENSP00000318423:E522Q	E	-	1	0	LINS	98927676	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.227000	0.72282	2.613000	0.88420	0.655000	0.94253	GAA		0.284	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		G	101110153	C	G	101110153	3	3	579	1	0	0	0	0	1	0	0	0	8820	835	29	4	713	4	LINS1	15	101110153	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	10981179	101110153	1421239	50	31658											
RLTPR	146206	hgsc.bcm.edu	37	16	67680181	67680181	+	Silent	SNP	C	C	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr16:67680181C>T	ENST00000334583.6	+	5	670	c.342C>T	c.(340-342)gcC>gcT	p.A114A	RLTPR_ENST00000545661.1_Silent_p.A114A	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	114					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGCTGCAGCCATCAAGAAGG	0.627																																																0													56	64	61					16																	67680181		2092	4227	6319	SO:0001819	synonymous_variant	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.342C>T	16.37:g.67680181C>T			B8X2Z3	Silent	SNP	ENST00000334583.6	37	CCDS45513.1																																																																																				0.627	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		T	67680181	C	T	67680181	2	4	579	1	0	0	0	0	0	0	0	1	13400	581	21	2		2	RLTPR	16	67680181	Silent	SNP	C	TCGA-CZ-4865-01A-02D-1501-10		67680181	22674572	51	31659											
GAN	8139	hgsc.bcm.edu;ucsc.edu	37	16	81398605	81398605	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr16:81398605G>T	ENST00000568107.2	+	8	1425	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	421					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CTATGAAAAAGAAAATCTACG	0.468																																					GBM(106;1239 1507 7582 9741 33976)											0													66	66	66					16																	81398605		2202	4300	6502	SO:0001583	missense	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1263G>T	16.37:g.81398605G>T	ENSP00000476795:p.Lys421Asn			Missense_Mutation	SNP	ENST00000568107.2	37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171039	0.78452	.	.	ENSG00000127688	ENST00000248272	T	0.74315	-0.83	5.61	2.46	0.29980	Galactose oxidase, beta-propeller (1);	0.189921	0.56097	D	0.000035	T	0.61874	0.2382	N	0.03115	-0.41	0.58432	D	0.999996	D	0.57257	0.979	P	0.57620	0.824	T	0.59621	-0.7420	10	0.27082	T	0.32	.	10.5503	0.45083	0.2182:0.0:0.7818:0.0	.	421	Q9H2C0	GAN_HUMAN	N	421	ENSP00000248272:K421N	ENSP00000248272:K421N	K	+	3	2	GAN	79956106	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.435000	0.52849	0.664000	0.31047	0.557000	0.71058	AAG		0.468	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			T	81398605	G	T	81398605	3	4	579	1	0	0	0	0	1	0	0	0	6234	933	33	4	1293	4	GAN	16	81398605	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	13718424	81398605	8956148	52	31660											
TP53	7157	hgsc.bcm.edu;ucsc.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	C	rs397516437|rs28934573		TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr17:7577559G>C	ENST00000269305.4	-	7	911	c.722C>G	c.(721-723)tCc>tGc	p.S241C	TP53_ENST00000413465.2_Missense_Mutation_p.S241C|TP53_ENST00000445888.2_Missense_Mutation_p.S241C|TP53_ENST00000359597.4_Missense_Mutation_p.S241C|TP53_ENST00000420246.2_Missense_Mutation_p.S241C|TP53_ENST00000455263.2_Missense_Mutation_p.S241C|TP53_ENST00000574684.1_5'Flank	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and 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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	GRCh37	CM920673	TP53	M	rs28934573						139	108	118					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>G	17.37:g.7577559G>C	ENSP00000269305:p.Ser241Cys		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	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276619	0.59758	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.51233	D	0.999916	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;0.999	D	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241C;ENSP00000352610:S241C;ENSP00000269305:S241C;ENSP00000398846:S241C;ENSP00000391127:S241C;ENSP00000391478:S241C;ENSP00000425104:S109C;ENSP00000423862:S148C	ENSP00000269305:S241C	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		C	7577559	G	C	7577559	3	2	579	1	0	0	0	0	1	0	0	0	16386	1174	41	4	568	4	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10		7577559	73617651	53	31661											
PIK3R6	146850	hgsc.bcm.edu;ucsc.edu	37	17	8730539	8730539	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr17:8730539G>T	ENST00000311434.9	-	13	1704	c.1465C>A	c.(1465-1467)Cag>Aag	p.Q489K	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	489					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										ACGTTGCTCTGGTACCACGGG	0.662																																																0													35	41	39					17																	8730539		2105	4227	6332	SO:0001583	missense	146850			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1465C>A	17.37:g.8730539G>T	ENSP00000475670:p.Gln489Lys		Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37																																																																																					0.662	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		T	8730539	G	T	8730539	3	4	579	1	0	0	0	0	1	0	0	0	11925	1357	47	4	830	4	PIK3R6	17	8730539	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	1152980	8730539	72464671	54	31662											
MYH2	4620	hgsc.bcm.edu;ucsc.edu	37	17	10435069	10435069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr17:10435069C>A	ENST00000245503.5	-	22	2962	c.2578G>T	c.(2578-2580)Gaa>Taa	p.E860*	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E860*	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	860					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						TGAAATTCTTCCTTCATGGTG	0.418																																																0													131	127	128					17																	10435069		2203	4300	6503	SO:0001587	stop_gained	4620				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.2578G>T	17.37:g.10435069C>A	ENSP00000245503:p.Glu860*		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	43	10.155831	0.99349	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	4.71	4.71	0.59529	.	0.182884	0.25753	U	0.028531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	17.8356	0.88696	0.0:1.0:0.0:0.0	.	.	.	.	X	860	.	ENSP00000245503:E860X	E	-	1	0	MYH2	10375794	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.617000	0.46385	2.447000	0.82792	0.561000	0.74099	GAA		0.418	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10435069	C	A	10435069	4	1	579	1	0	0	0	0	0	1	0	0	10037	864	30	4	3323	4	MYH2	17	10435069	Nonsense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	1704530	10435069	70760141	55	31663											
NT5M	56953	hgsc.bcm.edu;ucsc.edu	37	17	17248196	17248196	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr17:17248196T>C	ENST00000389022.4	+	4	734	c.518T>C	c.(517-519)cTc>cCc	p.L173P	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	173					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GCTGACCTTCTCATAGACGAC	0.607																																																0													142	118	126					17																	17248196		2203	4300	6503	SO:0001583	missense	56953			AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"5' nucleotidase, mitochondrial"			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.518T>C	17.37:g.17248196T>C	ENSP00000373674:p.Leu173Pro			Missense_Mutation	SNP	ENST00000389022.4	37	CCDS32581.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867568	0.91587	.	.	ENSG00000205309	ENST00000446264;ENST00000389022	T	0.55588	0.51	5.78	5.78	0.91487	HAD-like domain (2);	0.117593	0.64402	D	0.000014	T	0.77644	0.4161	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.82705	-0.0325	10	0.87932	D	0	-42.8199	14.943	0.71009	0.0:0.0:0.0:1.0	.	173;173;173	Q2I378;Q9NPB1;F6S3X3	.;NT5M_HUMAN;.	P	173	ENSP00000373674:L173P	ENSP00000373674:L173P	L	+	2	0	NT5M	17188921	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	6.946000	0.75953	2.194000	0.70268	0.533000	0.62120	CTC		0.607	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			C	17248196	T	C	17248196	3	2	579	1	0	0	0	0	1	0	0	0	10696	1551	54	3	532	3	NT5M	17	17248196	Missense_Mutation	SNP	T	TCGA-CZ-4865-01A-02D-1501-10	6813127	17248196	63947014	56	31664											
TMEM106A	113277	hgsc.bcm.edu	37	17	41368531	41368531	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr17:41368531G>A	ENST00000331615.3	+	6	730	c.493G>A	c.(493-495)Gtt>Att	p.V165I	TMEM106A_ENST00000588659.1_Missense_Mutation_p.V165I|LINC00854_ENST00000593624.1_RNA|TMEM106A_ENST00000541594.1_Missense_Mutation_p.V117I|LINC00854_ENST00000427995.1_RNA|TMEM106A_ENST00000536052.1_Intron|LINC00854_ENST00000595400.1_RNA	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	165						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)		GACCCTCGAGGTTCTGCACCT	0.537																																																0													230	220	224					17																	41368531		2203	4296	6499	SO:0001583	missense	113277			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.493G>A	17.37:g.41368531G>A	ENSP00000330774:p.Val165Ile		A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	37	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435404	0.25813	.	.	ENSG00000184988	ENST00000331615;ENST00000541594	T;T	0.26518	1.73;1.73	5.52	3.55	0.40652	.	0.202868	0.42172	N	0.000741	T	0.26666	0.0652	M	0.62723	1.935	0.29784	N	0.833732	B;B	0.21753	0.06;0.06	B;B	0.26770	0.032;0.073	T	0.15549	-1.0433	10	0.34782	T	0.22	-21.9915	10.3795	0.44104	0.1566:0.0:0.8434:0.0	.	117;165	B7Z698;Q96A25	.;T106A_HUMAN	I	165;117	ENSP00000330774:V165I;ENSP00000439844:V117I	ENSP00000330774:V165I	V	+	1	0	TMEM106A	38724057	1.000000	0.71417	0.850000	0.33497	0.185000	0.23345	3.250000	0.51445	0.822000	0.34565	-0.126000	0.14955	GTT		0.537	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041		A	41368531	G	A	41368531	3	1	579	1	0	0	0	0	1	0	0	0	16025	1261	44	2	507	2	TMEM106A	17	41368531	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	24120335	41368531	39826679	57	31665											
ABCC3	8714	hgsc.bcm.edu;ucsc.edu	37	17	48741447	48741447	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr17:48741447T>G	ENST00000285238.8	+	10	1393	c.1313T>G	c.(1312-1314)aTc>aGc	p.I438S	ABCC3_ENST00000427699.1_Missense_Mutation_p.I438S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	438	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CTGCAGATCATCCTGGCGATC	0.547																																																0													124	110	115					17																	48741447		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1313T>G	17.37:g.48741447T>G	ENSP00000285238:p.Ile438Ser		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	T	4.558	0.103711	0.08731	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.90444	-2.67;-2.67	4.71	1.23	0.21249	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.056440	0.07351	N	0.882342	D	0.88276	0.6393	M	0.66506	2.035	0.30413	N	0.778909	B;B	0.19331	0.035;0.014	B;B	0.17979	0.018;0.02	T	0.76822	-0.2817	10	0.38643	T	0.18	-4.5941	7.2189	0.25975	0.0:0.1556:0.4318:0.4126	.	438;438	O15438;O15438-5	MRP3_HUMAN;.	S	438	ENSP00000395160:I438S;ENSP00000285238:I438S	ENSP00000285238:I438S	I	+	2	0	ABCC3	46096446	0.001000	0.12720	0.983000	0.44433	0.642000	0.38348	0.518000	0.22847	0.014000	0.14944	-0.326000	0.08463	ATC		0.547	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		G	48741447	T	G	48741447	3	3	579	1	0	0	0	0	1	0	0	0	54	1435	50	5	1351	5	ABCC3	17	48741447	Missense_Mutation	SNP	T	TCGA-CZ-4865-01A-02D-1501-10	7372916	48741447	32453763	58	31666											
EIF4A3	9775	hgsc.bcm.edu;ucsc.edu	37	17	78110034	78110034	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr17:78110034T>C	ENST00000269349.3	-	10	1305	c.1084A>G	c.(1084-1086)Ata>Gta	p.I362V		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	362	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TACCTGTGTATGTACAATTCT	0.393																																																0													103	100	101					17																	78110034		2203	4300	6503	SO:0001583	missense	9775			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"DEAD-boxes"	18683	protein-coding gene	gene with protein product		608546	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 48", "eukaryotic translation initiation factor 4A, isoform 3"	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.1084A>G	17.37:g.78110034T>C	ENSP00000269349:p.Ile362Val		Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562046	0.27915	.	.	ENSG00000141543	ENST00000269349	T	0.78003	-1.14	4.03	4.03	0.46877	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	L	0.35542	1.07	0.80722	D	1	B	0.27791	0.189	B	0.41723	0.365	T	0.74765	-0.3554	10	0.62326	D	0.03	-16.8333	10.9528	0.47341	0.0:0.0:0.0:1.0	.	362	P38919	IF4A3_HUMAN	V	362	ENSP00000269349:I362V	ENSP00000269349:I362V	I	-	1	0	EIF4A3	75724629	1.000000	0.71417	0.612000	0.29024	0.043000	0.13939	7.315000	0.78998	1.714000	0.51371	0.459000	0.35465	ATA		0.393	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		C	78110034	T	C	78110034	3	2	579	1	0	0	0	0	1	0	0	0	5028	1464	51	3	163	3	EIF4A3	17	78110034	Missense_Mutation	SNP	T	TCGA-CZ-4865-01A-02D-1501-10	29368587	78110034	3085176	59	31667											
NDC80	10403	hgsc.bcm.edu;ucsc.edu	37	18	2608738	2608738	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr18:2608738G>C	ENST00000261597.4	+	15	1779	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	533	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAGTGAGCTTGAGTCCTTGGA	0.428																																																0													118	110	113					18																	2608738		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1597G>C	18.37:g.2608738G>C	ENSP00000261597:p.Glu533Gln		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657567	0.47467	.	.	ENSG00000080986	ENST00000261597	T	0.51574	0.7	5.53	5.53	0.82687	.	0.092869	0.64402	D	0.000001	T	0.43986	0.1272	L	0.59436	1.845	0.46774	D	0.999192	P	0.42785	0.79	B	0.37650	0.255	T	0.43491	-0.9388	10	0.42905	T	0.14	-8.0368	13.3812	0.60768	0.0762:0.0:0.9238:0.0	.	533	O14777	NDC80_HUMAN	Q	533	ENSP00000261597:E533Q	ENSP00000261597:E533Q	E	+	1	0	NDC80	2598738	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	3.632000	0.54287	2.600000	0.87896	0.491000	0.48974	GAG		0.428	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		C	2608738	G	C	2608738	3	2	579	1	0	0	0	0	1	0	0	0	10244	1291	45	4	1651	4	NDC80	18	2608738	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10		2608738	75468510	60	31668											
EPB41L3	23136	hgsc.bcm.edu;ucsc.edu	37	18	5428360	5428360	+	Silent	SNP	C	C	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr18:5428360C>T	ENST00000341928.2	-	9	1357	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	EPB41L3_ENST00000400111.3_Silent_p.K339K|EPB41L3_ENST00000342933.3_Silent_p.K339K|EPB41L3_ENST00000540638.2_Silent_p.K339K|EPB41L3_ENST00000544123.1_Silent_p.K339K|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	339	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGTATGAAATCTTTAGAACCT	0.453																																																0													146	144	145					18																	5428360		2203	4300	6503	SO:0001819	synonymous_variant	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1017G>A	18.37:g.5428360C>T			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	CCDS11838.1																																																																																				0.453	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		T	5428360	C	T	5428360	2	4	579	1	0	0	0	0	0	0	0	1	5156	912	32	2		2	EPB41L3	18	5428360	Silent	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	2819622	5428360	72648888	61	31669											
OR7G3	390883	hgsc.bcm.edu;ucsc.edu	37	19	9236856	9236856	+	Silent	SNP	C	C	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr19:9236856C>T	ENST00000305444.2	-	1	770	c.771G>A	c.(769-771)ggG>ggA	p.G257G		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TAAGGTACACCCCAAACCCTG	0.463																																																0													94	89	91					19																	9236856		2203	4300	6503	SO:0001819	synonymous_variant	390883				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.771G>A	19.37:g.9236856C>T			Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	CCDS32899.1																																																																																				0.463	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			T	9236856	C	T	9236856	2	4	579	1	0	0	0	0	0	0	0	1	11226	610	22	2		2	OR7G3	19	9236856	Silent	SNP	C	TCGA-CZ-4865-01A-02D-1501-10		9236856	49892127	62	31670											
GRIK5	2901	hgsc.bcm.edu;ucsc.edu	37	19	42566909	42566909	+	Splice_Site	SNP	C	C	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr19:42566909C>A	ENST00000262895.3	-	3	342		c.e3+1		GRIK5_ENST00000593562.1_Splice_Site|GRIK5_ENST00000301218.4_Splice_Site	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5						cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CCCCATCTCACCTCCTTCTCT	0.612																																																0													80	77	78					19																	42566909		2203	4300	6503	SO:0001630	splice_region_variant	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.342+1G>T	19.37:g.42566909C>A			Q8WWG8	Splice_Site	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668334	0.88348	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.147	0.89661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIK5	47258749	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.258000	0.78371	2.595000	0.87683	0.643000	0.83706	.		0.612	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1		Intron	A	42566909	C	A	42566909	5	1	579	1	0	0	0	0	0	0	1	0	6779	521	18	4	2667	4	GRIK5	19	42566909	Splice_Site	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	33330053	42566909	16562074	63	31671											
NAA20	51126	hgsc.bcm.edu;ucsc.edu	37	20	20006327	20006327	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr20:20006327A>C	ENST00000334982.4	+	3	366	c.85A>C	c.(85-87)Att>Ctt	p.I29L	NAA20_ENST00000398602.2_Missense_Mutation_p.I17L|NAA20_ENST00000310450.4_Missense_Mutation_p.I29L|NAA20_ENST00000484480.1_3'UTR	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	29	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						CTAGTATGGGATTCCTTTCTA	0.368																																																0													135	135	135					20																	20006327		2203	4300	6503	SO:0001583	missense	51126			AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"N(alpha)-acetyltransferase subunits"	15908	protein-coding gene	gene with protein product	"N-acetyltransferase 3 homolog (S. cerevisiae)"	610833	"N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)", "N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)", "N-acetyltransferase 5", "N-acetyltransferase 5 (GCN5-related, putative)"	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.85A>C	20.37:g.20006327A>C	ENSP00000335636:p.Ile29Leu		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Missense_Mutation	SNP	ENST00000334982.4	37	CCDS13141.1	.	.	.	.	.	.	.	.	.	.	A	7.657	0.684054	0.14907	.	.	ENSG00000173418	ENST00000334982;ENST00000310450;ENST00000398602	T;T;T	0.62232	0.63;0.7;0.04	4.76	4.76	0.60689	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	N	0.00630	-1.315	0.58432	D	0.999999	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.25779	-1.0122	9	.	.	.	-14.3605	13.3899	0.60818	1.0:0.0:0.0:0.0	.	17;29;29	A8MZB2;A6NHA3;P61599	.;.;NAA20_HUMAN	L	29;29;17	ENSP00000335636:I29L;ENSP00000311027:I29L;ENSP00000381603:I17L	.	I	+	1	0	NAA20	19954327	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.019000	0.93662	1.993000	0.58246	0.533000	0.62120	ATT		0.368	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100		C	20006327	A	C	20006327	3	2	579	1	0	0	0	0	1	0	0	0	10122	333	12	5	116	5	NAA20	20	20006327	Missense_Mutation	SNP	A	TCGA-CZ-4865-01A-02D-1501-10		20006327	43019193	64	31672											
CEP250	11190	hgsc.bcm.edu;ucsc.edu	37	20	34053567	34053567	+	Splice_Site	SNP	G	G	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr20:34053567G>C	ENST00000397527.1	+	6	963		c.e6-1		CEP250_ENST00000342580.4_Splice_Site|CEP250_ENST00000397524.1_Splice_Site	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa						centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GTCTGGCGCAGGGACCAATCC	0.527																																																0													70	61	64					20																	34053567		2202	4299	6501	SO:0001630	splice_region_variant	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.244-1G>C	20.37:g.34053567G>C			E1P5Q3|O14812|O60588|Q9H450	Splice_Site	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939048	0.34189	.	.	ENSG00000126001	ENST00000446710;ENST00000420564;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.867	0.86032	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP250	33516981	1.000000	0.71417	0.996000	0.52242	0.514000	0.34195	5.486000	0.66856	2.701000	0.92244	0.655000	0.94253	.		0.527	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	Intron	C	34053567	G	C	34053567	5	2	579	1	0	0	0	0	0	0	1	0	3254	1014	35	4	253	4	CEP250	20	34053567	Splice_Site	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	14047240	34053567	28971953	65	31673											
LSM14B	149986	hgsc.bcm.edu;ucsc.edu	37	20	60708449	60708449	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr20:60708449G>A	ENST00000279068.6	+	8	1250	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	LSM14B_ENST00000253001.4_Missense_Mutation_p.G364R	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	364					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CGGATTCCGAGGAGGCAGGGG	0.637																																																0													75	89	84					20																	60708449		2024	4162	6186	SO:0001583	missense	149986			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.1090G>A	20.37:g.60708449G>A	ENSP00000279068:p.Gly364Arg		Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551755	0.65311	.	.	ENSG00000149657	ENST00000279068;ENST00000253001	T;T	0.59906	0.26;0.23	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000001	T	0.62097	0.2400	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.61277	-0.7095	10	0.32370	T	0.25	.	16.0166	0.80443	0.0:0.0:1.0:0.0	.	284;364;364	E9PG81;Q9BX40;Q9BX40-2	.;LS14B_HUMAN;.	R	364	ENSP00000279068:G364R;ENSP00000253001:G364R	ENSP00000253001:G364R	G	+	1	0	LSM14B	60141844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.304000	0.59104	2.437000	0.82529	0.655000	0.94253	GGA		0.637	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		A	60708449	G	A	60708449	3	1	579	1	0	0	0	0	1	0	0	0	9057	1001	35	2	1120	2	LSM14B	20	60708449	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	26654882	60708449	2317071	66	31674											
USP25	29761	hgsc.bcm.edu;ucsc.edu	37	21	17246743	17246743	+	Silent	SNP	C	C	T			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr21:17246743C>T	ENST00000285679.6	+	22	3066	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	USP25_ENST00000351097.5_Silent_p.F294F|USP25_ENST00000400183.2_Silent_p.F969F|USP25_ENST00000285681.2_Silent_p.F931F	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	899					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CCTTGCTGTTCCTCATCTGTG	0.294																																																0													115	118	117					21																	17246743		2203	4299	6502	SO:0001819	synonymous_variant	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2697C>T	21.37:g.17246743C>T			C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034780	0.19590	.	.	ENSG00000155313	ENST00000449491	.	.	.	5.71	1.35	0.21983	.	.	.	.	.	T	0.59959	0.2232	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55823	-0.8080	4	.	.	.	.	11.7405	0.51790	0.0:0.7191:0.0:0.2809	.	.	.	.	F	198	.	.	S	+	2	0	USP25	16168614	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.681000	0.25320	0.353000	0.24079	0.460000	0.39030	TCC		0.294	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			T	17246743	C	T	17246743	2	4	579	1	0	0	0	0	0	0	0	1	17061	854	30	2		2	USP25	21	17246743	Silent	SNP	C	TCGA-CZ-4865-01A-02D-1501-10		17246743	30883152	67	31675											
GGT1	2678	hgsc.bcm.edu	37	22	25007113	25007113	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chr22:25007113T>C	ENST00000400382.1	+	5	820	c.65T>C	c.(64-66)cTc>cCc	p.L22P	GGT1_ENST00000248923.4_Missense_Mutation_p.L22P|GGT1_ENST00000406383.2_Missense_Mutation_p.L22P|GGT1_ENST00000400383.1_Missense_Mutation_p.L22P|GGT1_ENST00000400380.1_Missense_Mutation_p.L22P			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	22					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATTGTCGGCCTCTGTCTCTGG	0.612																																																0													13	13	13					22																	25007113		1974	4134	6108	SO:0001583	missense	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.65T>C	22.37:g.25007113T>C	ENSP00000383232:p.Leu22Pro		Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	6.664	0.490966	0.12702	.	.	ENSG00000100031	ENST00000248923;ENST00000456869;ENST00000411974;ENST00000412658;ENST00000445029;ENST00000419133;ENST00000400382;ENST00000438643;ENST00000452551;ENST00000400383;ENST00000412898;ENST00000400380;ENST00000455483;ENST00000430289;ENST00000447416;ENST00000432867;ENST00000451366;ENST00000406383;ENST00000428855	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29397	3.51;1.75;3.4;1.57;1.81;3.51;1.75;3.51;1.66;3.51;1.71;1.73;1.75;1.73;1.75;3.51;1.75	3.5	3.5	0.40072	.	0.228496	0.37053	U	0.002267	T	0.40595	0.1123	L	0.59436	1.845	0.35923	D	0.831968	D	0.64830	0.994	P	0.56343	0.796	T	0.48801	-0.9003	10	0.30854	T	0.27	-15.9708	10.0722	0.42339	0.0:0.0:0.0:1.0	.	22	P19440	GGT1_HUMAN	P	22	ENSP00000248923:L22P;ENSP00000389935:L22P;ENSP00000393537:L22P;ENSP00000393135:L22P;ENSP00000395271:L22P;ENSP00000383232:L22P;ENSP00000415553:L22P;ENSP00000383233:L22P;ENSP00000408151:L22P;ENSP00000383231:L22P;ENSP00000415024:L22P;ENSP00000417044:L22P;ENSP00000400621:L22P;ENSP00000398589:L22P;ENSP00000387796:L22P;ENSP00000385975:L22P;ENSP00000415068:L22P	ENSP00000248923:L22P	L	+	2	0	GGT1	23337113	0.274000	0.24191	0.036000	0.18154	0.190000	0.23558	3.168000	0.50801	1.554000	0.49487	0.528000	0.53228	CTC		0.612	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		C	25007113	T	C	25007113	3	2	579	1	0	0	0	0	1	0	0	0	6363	1551	54	3	67	3	GGT1	22	25007113	Missense_Mutation	SNP	T	TCGA-CZ-4865-01A-02D-1501-10		25007113	26297453	68	31676											
REPS2	9185	hgsc.bcm.edu;ucsc.edu	37	X	17092279	17092279	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chrX:17092279C>G	ENST00000357277.3	+	12	1547	c.1376C>G	c.(1375-1377)tCc>tGc	p.S459C	REPS2_ENST00000303843.7_Missense_Mutation_p.S458C|REPS2_ENST00000380064.4_Intron	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	459					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					AGACCAAGATCCAGGTAGTGT	0.418																																																0													220	178	193					X																	17092279		2203	4300	6503	SO:0001583	missense	9185			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"EF-hand domain containing"	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1376C>G	X.37:g.17092279C>G	ENSP00000349824:p.Ser459Cys		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594483	0.66219	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843	T;T	0.34667	1.36;1.35	5.39	4.52	0.55395	.	0.297498	0.29473	N	0.012056	T	0.57519	0.2059	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.68039	0.955;0.817	T	0.60647	-0.7222	10	0.59425	D	0.04	-3.5166	14.3183	0.66468	0.1498:0.8502:0.0:0.0	.	458;459	Q8NFH8-4;Q8NFH8	.;REPS2_HUMAN	C	459;459;458	ENSP00000349824:S459C;ENSP00000306033:S458C	ENSP00000306033:S458C	S	+	2	0	REPS2	17002200	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.785000	0.62418	1.025000	0.39708	-0.237000	0.12165	TCC		0.418	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		G	17092279	C	G	17092279	3	3	579	1	0	0	0	0	1	0	0	0	13235	855	30	4	1422	4	REPS2	23	17092279	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10		17092279	138178281	69	31677											
FAM47A	158724	hgsc.bcm.edu	37	X	34149658	34149693	+	In_Frame_Del	DEL	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	-	rs367563899|rs201090915|rs201363312|rs373732464		TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chrX:34149658_34149693delATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	ENST00000346193.3	-	1	754_789	c.703_738delCTCCGCCCGGAGCCTCCAGAGACTGGAGTGTCCCAT	c.(703-738)ctccgcccggagcctccagagactggagtgtcccatdel	p.LRPEPPETGVSH235del		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	235	Pro-rich.							p.L235_H246delLRPEPPETGVSH(1)|p.P240P(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCGGGCGGATATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAGATGGGACACT	0.627														5	0.0013245	0.0	0.0	3775	,	,		15035	0.0		0.004	False		,,,				2504	0.001															2	Substitution - coding silent(1)|Deletion - In frame(1)	ovary(1)|lung(1)								33,3667		0,20,13,1562,523						-0.3	0			32	98,6373		2,62,32,2290,1731	no	coding	FAM47A	NM_203408.3		2,82,45,3852,2254	A1A1,A1R,A1,RR,R		1.5144,0.8919,1.288				131,10040				SO:0001651	inframe_deletion	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.703_738delCTCCGCCCGGAGCCTCCAGAGACTGGAGTGTCCCAT	X.37:g.34149658_34149693delATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	ENSP00000345029:p.Leu235_His246del		A8K8I9|Q8TAA0	In_Frame_Del	DEL	ENST00000346193.3	37	CCDS43926.1																																																																																				0.627	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		-	34149693	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	-	34149658	7	5	579	1	0	1	0	1	0	0	0	0	5571	446	16	0	1641	0	FAM47A	23	34149658	In_Frame_Del	DEL	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	TCGA-CZ-4865-01A-02D-1501-10	17057379	34149658	121120902	70	31678											
CXorf36	79742	hgsc.bcm.edu;ucsc.edu	37	X	45016973	45016973	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chrX:45016973G>A	ENST00000398000.2	-	3	733	c.659C>T	c.(658-660)cCc>cTc	p.P220L	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	220						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						TAGGAGGATGGGGTGCGAGTT	0.602																																																0													55	50	51					X																	45016973		1563	3577	5140	SO:0001583	missense	79742			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.659C>T	X.37:g.45016973G>A	ENSP00000381086:p.Pro220Leu		A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840214	0.51057	.	.	ENSG00000147113	ENST00000398000	T	0.37915	1.17	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000002	T	0.61702	0.2368	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63844	-0.6545	10	0.39692	T	0.17	.	17.1375	0.86743	0.0:0.0:1.0:0.0	.	220	Q9H7Y0	CX036_HUMAN	L	220	ENSP00000381086:P220L	ENSP00000381086:P220L	P	-	2	0	CXorf36	44901917	1.000000	0.71417	0.995000	0.50966	0.096000	0.18686	7.004000	0.76317	1.967000	0.57214	0.429000	0.28392	CCC		0.602	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		A	45016973	G	A	45016973	3	1	579	1	0	0	0	0	1	0	0	0	4108	1232	43	2	654	2	CXorf36	23	45016973	Missense_Mutation	SNP	G	TCGA-CZ-4865-01A-02D-1501-10	10867315	45016973	110253587	71	31679											
NAP1L2	4674	hgsc.bcm.edu;ucsc.edu	37	X	72432980	72432980	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chrX:72432980T>G	ENST00000373517.3	-	1	1704	c.1349A>C	c.(1348-1350)aAc>aCc	p.N450T	NAP1L2_ENST00000536638.1_Missense_Mutation_p.N308T	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	450					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TGCCTCAAGGTTTTTGCAACA	0.368																																																0													63	52	56					X																	72432980		2203	4300	6503	SO:0001583	missense	4674			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.1349A>C	X.37:g.72432980T>G	ENSP00000362616:p.Asn450Thr		B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	t	15.02	2.709948	0.48517	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.37411	1.39;1.2	3.03	3.03	0.35002	.	0.118616	0.53938	U	0.000044	T	0.26122	0.0637	N	0.08118	0	0.29450	N	0.858545	D	0.61697	0.99	P	0.51701	0.677	T	0.08432	-1.0722	10	0.87932	D	0	-19.7897	8.7734	0.34747	0.0:0.0:0.0:1.0	.	450	Q9ULW6	NP1L2_HUMAN	T	450;308	ENSP00000362616:N450T;ENSP00000441555:N308T	ENSP00000362616:N450T	N	-	2	0	NAP1L2	72349705	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.416000	0.52707	1.416000	0.47057	0.417000	0.27973	AAC		0.368	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		G	72432980	T	G	72432980	3	3	579	1	0	0	0	0	1	0	0	0	10159	1725	60	5	37	5	NAP1L2	23	72432980	Missense_Mutation	SNP	T	TCGA-CZ-4865-01A-02D-1501-10	27416007	72432980	82837580	72	31680											
RLIM	51132	hgsc.bcm.edu;ucsc.edu	37	X	73812508	73812508	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4865-01A-02D-1501-10	TCGA-CZ-4865-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f8eac30d-1155-44cc-a2ad-95427fecf4bf	e97e6356-82e8-49d3-ad59-f621e0cf6a85	g.chrX:73812508C>G	ENST00000332687.6	-	4	860	c.642G>C	c.(640-642)agG>agC	p.R214S	RLIM_ENST00000349225.2_Missense_Mutation_p.R214S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	214					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTCTGGGCTCCTGCTTCTTG	0.478																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											0													158	130	140					X																	73812508		2203	4300	6503	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.642G>C	X.37:g.73812508C>G	ENSP00000328059:p.Arg214Ser		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796282	0.50208	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.10668	2.85;2.85	6.05	3.21	0.36854	.	0.101919	0.64402	D	0.000008	T	0.10809	0.0264	L	0.39898	1.24	0.52099	D	0.999942	D	0.53151	0.958	P	0.45343	0.477	T	0.07328	-1.0778	10	0.44086	T	0.13	-3.5251	8.7377	0.34539	0.0:0.6824:0.0:0.3176	.	214	Q9NVW2	RNF12_HUMAN	S	214	ENSP00000328059:R214S;ENSP00000253571:R214S	ENSP00000328059:R214S	R	-	3	2	RLIM	73729233	0.992000	0.36948	1.000000	0.80357	0.966000	0.64601	0.237000	0.17985	0.610000	0.30035	0.594000	0.82650	AGG		0.478	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		G	73812508	C	G	73812508	3	3	579	1	0	0	0	0	1	0	0	0	13396	854	30	4	1236	4	RLIM	23	73812508	Missense_Mutation	SNP	C	TCGA-CZ-4865-01A-02D-1501-10	1379528	73812508	81458052	73	31681											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11189845	11189845	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:11189845G>C	ENST00000361445.4	-	40	5740	c.5664C>G	c.(5662-5664)ttC>ttG	p.F1888L	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Missense_Mutation_p.F93L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1888	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.F1888L(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGGAACGGAAGAAGCCCTGGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											177	141	153					1																	11189845		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5664C>G	1.37:g.11189845G>C	ENSP00000354558:p.Phe1888Leu		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180043	0.94846	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.75477	-0.94;-0.94	5.79	5.79	0.91817	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91858	0.5497	10	0.72032	D	0.01	-25.9408	13.26	0.60101	0.0721:0.0:0.9279:0.0	.	1888	P42345	MTOR_HUMAN	L	1888;93	ENSP00000354558:F1888L;ENSP00000366034:F93L	ENSP00000354558:F1888L	F	-	3	2	MTOR	11112432	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.225000	0.58600	2.733000	0.93635	0.655000	0.94253	TTC		0.522	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		C	11189845	G	C	11189845	3	2	580	1	0	0	0	0	1	0	0	0	9956	933	33	4	2061	4	MTOR	1	11189845	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10		11189845	238060776	1	31682											
KIAA1522	57648	broad.mit.edu	37	1	33236584	33236584	+	Missense_Mutation	SNP	C	C	T	rs376519951		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:33236584C>T	ENST00000373480.1	+	6	1730	c.1627C>T	c.(1627-1629)Cct>Tct	p.P543S	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.P602S|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P554S	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	543	Pro-rich.							p.P602S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGCAGGTCCCCCTGCTTCCCC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		10353	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											54	58	57					1																	33236584		1902	4091	5993	SO:0001583	missense	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1627C>T	1.37:g.33236584C>T	ENSP00000362579:p.Pro543Ser		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370469	0.24771	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.11385	2.81;2.78;2.81	3.9	2.98	0.34508	.	0.349370	0.24269	N	0.040004	T	0.10766	0.0263	L	0.43152	1.355	0.41384	D	0.987572	P;P;P	0.50943	0.713;0.94;0.865	B;P;B	0.47015	0.303;0.534;0.391	T	0.25882	-1.0119	10	0.15499	T	0.54	-8.3757	8.3567	0.32335	0.0:0.6992:0.2046:0.0962	.	554;543;602	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	S	602;554;543	ENSP00000383851:P602S;ENSP00000362580:P554S;ENSP00000362579:P543S	ENSP00000362579:P543S	P	+	1	0	KIAA1522	33009171	0.990000	0.36364	1.000000	0.80357	0.978000	0.69477	2.901000	0.48695	0.968000	0.38212	0.462000	0.41574	CCT		0.647	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			T	33236584	C	T	33236584	3	4	580	1	0	0	0	0	1	0	0	0	8240	623	22	2	1826	2	KIAA1522	1	33236584	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	22046739	33236584	216014037	2	31683											
RPE65	6121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	68903915	68903915	+	Silent	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:68903915G>C	ENST00000262340.5	-	10	1136	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	361					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.P361P(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTTCAGGTTGGGGAGCCTTTC	0.348																																																1	Substitution - coding silent(1)	kidney(1)											104	106	106					1																	68903915		2203	4300	6503	SO:0001819	synonymous_variant	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1083C>G	1.37:g.68903915G>C			A8K1L0|Q5T9U3	Silent	SNP	ENST00000262340.5	37	CCDS643.1																																																																																				0.348	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		C	68903915	G	C	68903915	2	2	580	1	0	0	0	0	0	0	0	1	13551	1219	43	4		4	RPE65	1	68903915	Silent	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	35667331	68903915	180346706	3	31684											
LRRIQ3	127255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	74540469	74540469	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:74540469T>C	ENST00000395089.1	-	5	872	c.873A>G	c.(871-873)atA>atG	p.I291M	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.I291M			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	291								p.I291M(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAGGATAATATATATTCTGTG	0.264																																																1	Substitution - Missense(1)	kidney(1)											37	33	34					1																	74540469		1767	4017	5784	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.873A>G	1.37:g.74540469T>C	ENSP00000378524:p.Ile291Met		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	T	3.440	-0.114259	0.06881	.	.	ENSG00000162620	ENST00000417067;ENST00000395089;ENST00000354431	T;T	0.08720	3.06;3.06	4.51	-9.02	0.00741	.	0.366248	0.19801	N	0.105753	T	0.01287	0.0042	L	0.36672	1.1	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.32079	-0.9920	10	0.59425	D	0.04	.	4.2099	0.10507	0.231:0.4802:0.1176:0.1712	.	291	A6PVS8	LRIQ3_HUMAN	M	2;291;291	ENSP00000378524:I291M;ENSP00000346414:I291M	ENSP00000346414:I291M	I	-	3	3	LRRIQ3	74313057	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.757000	0.04772	-2.123000	0.00823	-2.150000	0.00334	ATA		0.264	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		C	74540469	T	C	74540469	3	2	580	1	0	0	0	0	1	0	0	0	9032	1396	49	3	1013	3	LRRIQ3	1	74540469	Missense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10	5636554	74540469	174710152	4	31685											
COL24A1	255631	broad.mit.edu;ucsc.edu	37	1	86252141	86252141	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:86252141T>A	ENST00000370571.2	-	48	4321	c.3955A>T	c.(3955-3957)Atc>Ttc	p.I1319F	COL24A1_ENST00000436319.1_Missense_Mutation_p.I1319F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1319	Collagen-like 15.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.I1319F(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCGCCTCTGATGCCCTAAATA	0.493																																																1	Substitution - Missense(1)	kidney(1)											61	61	61					1																	86252141		1818	4079	5897	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3955A>T	1.37:g.86252141T>A	ENSP00000359603:p.Ile1319Phe		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.428521	0.25726	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93307	-3.2;-3.2	5.25	1.47	0.22746	.	0.527792	0.14383	N	0.323003	T	0.81908	0.4922	L	0.45285	1.41	0.25411	N	0.988351	B;B	0.24186	0.099;0.012	B;B	0.27262	0.078;0.019	T	0.72792	-0.4186	10	0.45353	T	0.12	.	8.6757	0.34179	0.0:0.2904:0.0:0.7096	.	1319;1319	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	F	1319	ENSP00000359603:I1319F;ENSP00000392531:I1319F	ENSP00000359603:I1319F	I	-	1	0	COL24A1	86024729	0.999000	0.42202	0.989000	0.46669	0.991000	0.79684	1.022000	0.30052	-0.004000	0.14419	0.377000	0.23210	ATC		0.493	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		A	86252141	T	A	86252141	3	1	580	1	0	0	0	0	1	0	0	0	3685	1464	51	5	1241	5	COL24A1	1	86252141	Missense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10	11711672	86252141	162998480	5	31686											
TXNIP	10628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	145440274	145440274	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:145440274G>A	ENST00000369317.4	+	5	914	c.580G>A	c.(580-582)Gag>Aag	p.E194K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	194					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.E194K(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTAGGTGATGAGATTTCCAT	0.478																																																1	Substitution - Missense(1)	kidney(1)											108	108	108					1																	145440274		2203	4300	6503	SO:0001583	missense	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.580G>A	1.37:g.145440274G>A	ENSP00000358323:p.Glu194Lys		B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185392	0.57909	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.17854	2.25;2.25	5.69	5.69	0.88448	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.192683	0.44285	D	0.000478	T	0.04907	0.0132	N	0.22421	0.69	0.52099	D	0.999948	B;B	0.29862	0.259;0.049	B;B	0.30943	0.122;0.025	T	0.04840	-1.0923	10	0.05525	T	0.97	-0.771	17.3154	0.87222	0.0:0.0:1.0:0.0	.	139;194	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	K	194;139	ENSP00000358323:E194K;ENSP00000396322:E139K	ENSP00000358323:E194K	E	+	1	0	TXNIP	144151631	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.445000	0.80570	2.696000	0.92011	0.651000	0.88453	GAG		0.478	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		A	145440274	G	A	145440274	3	1	580	1	0	0	0	0	1	0	0	0	16808	1291	45	2	598	2	TXNIP	1	145440274	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	59188133	145440274	103810347	6	31687											
XPR1	9213	broad.mit.edu;ucsc.edu	37	1	180794054	180794054	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:180794054A>G	ENST00000367590.4	+	8	1127	c.929A>G	c.(928-930)aAt>aGt	p.N310S	AL590085.1_ENST00000579998.1_RNA|XPR1_ENST00000367589.3_Missense_Mutation_p.N310S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	310					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.N310S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCGAGAAGCAATTTGTCTCAT	0.383																																																1	Substitution - Missense(1)	kidney(1)											129	119	122					1																	180794054		2203	4300	6503	SO:0001583	missense	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.929A>G	1.37:g.180794054A>G	ENSP00000356562:p.Asn310Ser		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238607	0.79800	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.38560	1.13;1.13	5.65	5.65	0.86999	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.40543	1.245	0.80722	D	1	D;P	0.55172	0.97;0.8	P;P	0.55345	0.774;0.636	T	0.49588	-0.8924	10	0.54805	T	0.06	-13.7808	15.5314	0.75964	1.0:0.0:0.0:0.0	.	310;310	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	S	310	ENSP00000356562:N310S;ENSP00000356561:N310S	ENSP00000356561:N310S	N	+	2	0	XPR1	179060677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.780000	0.91799	2.152000	0.67230	0.528000	0.53228	AAT		0.383	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		G	180794054	A	G	180794054	3	3	580	1	0	0	0	0	1	0	0	0	17456	101	4	3	959	3	XPR1	1	180794054	Missense_Mutation	SNP	A	TCGA-CZ-4866-01A-01D-1501-10	35353780	180794054	68456567	7	31688											
XPR1	9213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	180849261	180849261	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:180849261T>C	ENST00000367590.4	+	14	2056	c.1858T>C	c.(1858-1860)Tgt>Cgt	p.C620R	XPR1_ENST00000367589.3_Missense_Mutation_p.C555R	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	620	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.C620R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTGAATAACTGTGGTGAATT	0.468																																																1	Substitution - Missense(1)	kidney(1)											118	116	117					1																	180849261		2203	4300	6503	SO:0001583	missense	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1858T>C	1.37:g.180849261T>C	ENSP00000356562:p.Cys620Arg		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623932	0.87460	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.47869	0.83	5.57	5.57	0.84162	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.989	T	0.76594	-0.2902	10	0.87932	D	0	-13.2976	15.3962	0.74794	0.0:0.0:0.0:1.0	.	555;620	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	R	620;555	ENSP00000356562:C620R	ENSP00000356561:C555R	C	+	1	0	XPR1	179115884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.926000	0.87569	2.101000	0.63845	0.482000	0.46254	TGT		0.468	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		C	180849261	T	C	180849261	3	2	580	1	0	0	0	0	1	0	0	0	17456	1580	55	3	1912	3	XPR1	1	180849261	Missense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10	55207	180849261	68401360	8	31689											
PCNXL2	80003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	233270864	233270864	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:233270864C>G	ENST00000258229.9	-	21	3966	c.3732G>C	c.(3730-3732)caG>caC	p.Q1244H	PCNXL2_ENST00000488780.2_Missense_Mutation_p.Q377H|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1244						integral component of membrane (GO:0016021)		p.Q1244H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGTTAATAAACTGGTAAACCG	0.378																																																1	Substitution - Missense(1)	kidney(1)											74	74	74					1																	233270864		1872	4115	5987	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3732G>C	1.37:g.233270864C>G	ENSP00000258229:p.Gln1244His		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121113	0.37436	.	.	ENSG00000135749	ENST00000258229;ENST00000484347;ENST00000488780	T	0.10477	2.87	5.63	4.67	0.58626	.	0.055994	0.64402	D	0.000001	T	0.14141	0.0342	M	0.68952	2.095	0.80722	D	1	B	0.21309	0.054	B	0.23018	0.043	T	0.01920	-1.1247	10	0.66056	D	0.02	.	10.6769	0.45792	0.0:0.7962:0.1328:0.071	.	1244	A6NKB5	PCX2_HUMAN	H	1244;80;377	ENSP00000258229:Q1244H	ENSP00000258229:Q1244H	Q	-	3	2	PCNXL2	231337487	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	1.047000	0.30367	2.815000	0.96918	0.650000	0.86243	CAG		0.378	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		G	233270864	C	G	233270864	3	3	580	1	0	0	0	0	1	0	0	0	11594	564	20	4	2737	4	PCNXL2	1	233270864	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	52421603	233270864	15979757	9	31690											
OR2L2	26246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	248202228	248202228	+	Missense_Mutation	SNP	T	T	C	rs138507569		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr1:248202228T>C	ENST00000366479.2	+	1	755	c.659T>C	c.(658-660)gTt>gCt	p.V220A	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V220A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TATGGCCGGGTTCTCCTTGCT	0.512													t|||	1	0.000199681	0.0	0.0	5008	,	,		23308	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											262	232	242					1																	248202228		2203	4300	6503	SO:0001583	missense	26246			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.659T>C	1.37:g.248202228T>C	ENSP00000355435:p.Val220Ala		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	16.52	3.145554	0.57044	.	.	ENSG00000203663	ENST00000366479	T	0.00193	8.58	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.316379	0.17285	U	0.179851	T	0.00384	0.0012	M	0.84082	2.675	0.09310	N	1	P	0.41265	0.744	P	0.49922	0.626	T	0.18650	-1.0330	10	0.87932	D	0	.	9.0367	0.36291	0.0:0.0:0.0:1.0	.	220	Q8NH16	OR2L2_HUMAN	A	220	ENSP00000355435:V220A	ENSP00000355435:V220A	V	+	2	0	OR2L2	246268851	0.716000	0.27956	0.007000	0.13788	0.103000	0.19146	5.176000	0.65026	0.746000	0.32786	0.163000	0.16589	GTT		0.512	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		C	248202228	T	C	248202228	3	2	580	1	0	0	0	0	1	0	0	0	11009	1725	60	3	661	3	OR2L2	1	248202228	Missense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10	14931364	248202228	1048393	10	31691											
CXCR4	7852	broad.mit.edu;ucsc.edu	37	2	136872770	136872770	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr2:136872770A>G	ENST00000241393.3	-	2	832	c.728T>C	c.(727-729)aTc>aCc	p.I243T	CXCR4_ENST00000409817.1_Missense_Mutation_p.I247T|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	243				VIL -> IIP (in Ref. 12; AAK29630). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.I247T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	CAGGATGAGGATGACTGTGGT	0.512																																																1	Substitution - Missense(1)	kidney(1)											179	165	170					2																	136872770		2203	4300	6503	SO:0001583	missense	7852			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.728T>C	2.37:g.136872770A>G	ENSP00000241393:p.Ile243Thr		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.677634	0.47886	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.39406	1.08;1.08	6.17	6.17	0.99709	GPCR, rhodopsin-like superfamily (1);	0.044114	0.85682	D	0.000000	T	0.53254	0.1785	L	0.41236	1.265	0.80722	D	1	P;D	0.69078	0.593;0.997	P;D	0.68192	0.821;0.956	T	0.41431	-0.9509	10	0.14252	T	0.57	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	243;247	P61073;P61073-2	CXCR4_HUMAN;.	T	247;243;113	ENSP00000386884:I247T;ENSP00000241393:I243T	ENSP00000241393:I243T	I	-	2	0	CXCR4	136589240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	2.371000	0.80710	0.533000	0.62120	ATC		0.512	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			G	136872770	A	G	136872770	3	3	580	1	0	0	0	0	1	0	0	0	4095	333	12	3	334	3	CXCR4	2	136872770	Missense_Mutation	SNP	A	TCGA-CZ-4866-01A-01D-1501-10		136872770	106326603	11	31692											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179401957	179401957	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr2:179401957T>G	ENST00000591111.1	-	306	95180	c.94956A>C	c.(94954-94956)aaA>aaC	p.K31652N	TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K30725N|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K24353N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K24420N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K33293N|TTN_ENST00000460472.2_Missense_Mutation_p.K24228N			Q8WZ42	TITIN_HUMAN	titin	31652					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)	p.K24228N(1)|p.K24353N(1)|p.K30723N(1)|p.K24420N(1)|p.K30725N(1)		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)			GTCCTGTAGGTTTGTCTGGTT	0.398																																																5	Substitution - Missense(5)	kidney(5)											58	55	56					2																	179401957		1842	4095	5937	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94956A>C	2.37:g.179401957T>G	ENSP00000465570:p.Lys31652Asn		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	14.49	2.550531	0.45383	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.65	-0.656	0.11436	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54727	0.1876	M	0.64997	1.995	0.39702	D	0.9712	P;P;P;D	0.53312	0.92;0.92;0.92;0.959	P;P;P;P	0.50109	0.631;0.631;0.631;0.631	T	0.61983	-0.6950	9	0.87932	D	0	.	10.5658	0.45171	0.0:0.4242:0.0:0.5758	.	24228;24353;24420;31652	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	30725;24228;24420;24353;24225	ENSP00000343764:K30725N;ENSP00000434586:K24228N;ENSP00000340554:K24420N;ENSP00000352154:K24353N	ENSP00000340554:K24420N	K	-	3	2	TTN	179110203	0.786000	0.28738	1.000000	0.80357	0.995000	0.86356	-0.177000	0.09796	0.091000	0.17302	0.460000	0.39030	AAA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179401957	T	G	179401957	3	3	580	1	0	0	0	0	1	0	0	0	16740	1722	60	5	8128	5	TTN	2	179401957	Missense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10	42529187	179401957	63797416	12	31693											
SLC4A3	6508	broad.mit.edu;ucsc.edu	37	2	220502504	220502504	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr2:220502504T>C	ENST00000358055.3	+	17	3249	c.2737T>C	c.(2737-2739)Ttc>Ctc	p.F913L	SLC4A3_ENST00000373760.2_Missense_Mutation_p.F913L|SLC4A3_ENST00000273063.6_Missense_Mutation_p.F940L|SLC4A3_ENST00000317151.3_Missense_Mutation_p.F913L|SLC4A3_ENST00000373762.3_Missense_Mutation_p.F940L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	913	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.F940L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCGCAAGTTCAGGAACAG	0.627																																																1	Substitution - Missense(1)	kidney(1)											78	58	65					2																	220502504		2203	4300	6503	SO:0001583	missense	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2737T>C	2.37:g.220502504T>C	ENSP00000350756:p.Phe913Leu		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442120	0.83993	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	4.7	4.7	0.59300	Bicarbonate transporter, C-terminal (1);	0.102653	0.64402	D	0.000002	T	0.80889	0.4710	L	0.50993	1.605	0.80722	D	1	B;P;B	0.42039	0.075;0.769;0.349	B;P;B	0.51324	0.133;0.666;0.311	T	0.82776	-0.0290	10	0.62326	D	0.03	.	14.6781	0.68996	0.0:0.0:0.0:1.0	.	617;913;940	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	L	913;913;940;940;173;913	ENSP00000350756:F913L;ENSP00000362865:F913L;ENSP00000273063:F940L;ENSP00000362867:F940L;ENSP00000314006:F913L	ENSP00000273063:F940L	F	+	1	0	SLC4A3	220210748	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.053000	0.71089	2.110000	0.64415	0.451000	0.29950	TTC		0.627	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		C	220502504	T	C	220502504	3	2	580	1	0	0	0	0	1	0	0	0	14661	1725	60	3	2880	3	SLC4A3	2	220502504	Missense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10	41100547	220502504	22696869	13	31694											
BAP1	8314	hgsc.bcm.edu;ucsc.edu	37	3	52441418	52441418	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr3:52441418G>C	ENST00000460680.1	-	6	905	c.434C>G	c.(433-435)gCc>gGc	p.A145G	BAP1_ENST00000296288.5_Missense_Mutation_p.A145G	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CACACACCTGGCATGGCTATT	0.542			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													88	92	91					3																	52441418		2203	4300	6503	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.434C>G	3.37:g.52441418G>C	ENSP00000417132:p.Ala145Gly		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828963	0.90955	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	T;T;T	0.63255	-0.03;-0.03;-0.03	5.73	5.73	0.89815	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.79627	0.4478	M	0.86268	2.805	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	T	0.82408	-0.0472	10	0.72032	D	0.01	.	15.5052	0.75731	0.0:0.0:0.8611:0.1389	.	145	Q92560	BAP1_HUMAN	G	145;145;66	ENSP00000417132:A145G;ENSP00000296288:A145G;ENSP00000417776:A66G	ENSP00000296288:A145G	A	-	2	0	BAP1	52416458	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.502000	0.81614	2.716000	0.92895	0.655000	0.94253	GCC		0.542	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			C	52441418	G	C	52441418	3	2	580	1	0	0	0	0	1	0	0	0	1311	1203	42	4	1803	4	BAP1	3	52441418	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10		52441418	145581012	14	31695											
BAP1	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443568	52443568	+	5'Flank	SNP	A	A	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr3:52443568A>T	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Splice_Site|BAP1_ENST00000296288.5_Splice_Site|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.?(2)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACAGCCACTCACCCCTGACAT	0.577																																																2	Unknown(2)	kidney(1)|pleura(1)											211	221	218					3																	52443568		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443568A>T	Exception_encountered		K4DI82	Splice_Site	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407509	0.83340	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3639	0.66792	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52418608	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.090000	0.94144	1.809000	0.52856	0.533000	0.62120	.		0.577	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		T	52443568	A	T	52443568	1	4	580	0	1	0	0	0	0	0	0	0	1311	173	6	5		5	BAP1	3	52443568	5'Flank	SNP	A	TCGA-CZ-4866-01A-01D-1501-10	2150	52443568	145578862	15	31696											
CPZ	8532	hgsc.bcm.edu;ucsc.edu	37	4	8613867	8613867	+	Silent	SNP	G	G	A	rs2302573	byFrequency	TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:8613867G>A	ENST00000360986.4	+	8	1515	c.1341G>A	c.(1339-1341)gcG>gcA	p.A447A	CPZ_ENST00000382480.2_Silent_p.A310A|CPZ_ENST00000315782.6_Silent_p.A436A|CPZ_ENST00000429646.2_Silent_p.A55A	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	447					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.A447A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAACGGGGCGGACTGGTACA	0.652													G|||	408	0.0814696	0.0545	0.0086	5008	,	,		8298	0.2669		0.005	False		,,,				2504	0.0573															1	Substitution - coding silent(1)	stomach(1)						G	,,	282,4120	153.7+/-187.2	7,268,1926	52	48	49		1341,930,1308	-7.3	0.8	4	dbSNP_100	49	29,8569	19.8+/-62.0	0,29,4270	no	coding-synonymous,coding-synonymous,coding-synonymous	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	,,	7,297,6196	AA,AG,GG		0.3373,6.4062,2.3923	,,	447/653,310/516,436/642	8613867	311,12689	2201	4299	6500	SO:0001819	synonymous_variant	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1341G>A	4.37:g.8613867G>A			O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	CCDS33953.1																																																																																				0.652	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		A	8613867	G	A	8613867	2	1	580	1	0	0	0	0	0	0	0	1	3841	1103	39	1		1	CPZ	4	8613867	Silent	SNP	G	TCGA-CZ-4866-01A-01D-1501-10		8613867	182540409	16	31697											
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85722980	85722980	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:85722980A>G	ENST00000295888.4	-	17	3052	c.2645T>C	c.(2644-2646)tTa>tCa	p.L882S	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.L882S|WDFY3_ENST00000512267.1_5'UTR	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	882					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.L882S(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGGGATTGTAAAATATTTGC	0.443																																																1	Substitution - Missense(1)	kidney(1)											81	71	74					4																	85722980		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2645T>C	4.37:g.85722980A>G	ENSP00000295888:p.Leu882Ser		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943795	0.73672	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.68765	-0.35;-0.35	5.65	5.65	0.86999	Armadillo-like helical (1);	0.066541	0.64402	D	0.000014	T	0.64864	0.2637	L	0.58101	1.795	0.80722	D	1	P	0.47302	0.893	B	0.40101	0.319	T	0.71424	-0.4597	10	0.87932	D	0	.	16.1864	0.81955	1.0:0.0:0.0:0.0	.	882	Q8IZQ1	WDFY3_HUMAN	S	882	ENSP00000318466:L882S;ENSP00000295888:L882S	ENSP00000295888:L882S	L	-	2	0	WDFY3	85942004	1.000000	0.71417	0.965000	0.40720	0.844000	0.47949	8.910000	0.92685	2.281000	0.76405	0.528000	0.53228	TTA		0.443	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		G	85722980	A	G	85722980	3	3	580	1	0	0	0	0	1	0	0	0	17275	372	13	3	8143	3	WDFY3	4	85722980	Missense_Mutation	SNP	A	TCGA-CZ-4866-01A-01D-1501-10	77109113	85722980	105431296	17	31698											
PTPN13	5783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87662898	87662898	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:87662898G>C	ENST00000411767.2	+	16	2479	c.2416G>C	c.(2416-2418)Gaa>Caa	p.E806Q	PTPN13_ENST00000316707.6_Missense_Mutation_p.E806Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.E806Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.E806Q|PTPN13_ENST00000436978.1_Missense_Mutation_p.E806Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	806	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.E806Q(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCTTGTGTTTGAAGTTCACAA	0.403																																																1	Substitution - Missense(1)	kidney(1)											124	121	122					4																	87662898		1940	4136	6076	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2416G>C	4.37:g.87662898G>C	ENSP00000407249:p.Glu806Gln		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216854	0.95104	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.73	5.73	0.89815	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.49305	D	0.000146	D	0.89774	0.6812	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;0.999;1.0;0.999	D	0.89940	0.4072	10	0.72032	D	0.01	.	19.8961	0.96958	0.0:0.0:1.0:0.0	.	806;806;806;806	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Q	806;806;806;806;806;774	ENSP00000408368:E806Q;ENSP00000394794:E806Q;ENSP00000322675:E806Q;ENSP00000407249:E806Q;ENSP00000426626:E806Q	ENSP00000322675:E806Q	E	+	1	0	PTPN13	87881922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.699000	0.92147	0.655000	0.94253	GAA		0.403	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			C	87662898	G	C	87662898	3	2	580	1	0	0	0	0	1	0	0	0	12788	1291	45	4	2474	4	PTPN13	4	87662898	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	1939918	87662898	103491378	18	31699											
C4orf17	84103	hgsc.bcm.edu	37	4	100443802	100443802	+	Silent	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:100443802G>A	ENST00000326581.4	+	3	635	c.273G>A	c.(271-273)gaG>gaA	p.E91E	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000514652.1_Silent_p.E91E	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	91			E -> K (in dbSNP:rs17029087). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.							central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CAGTCCAGGAGAGCCCTGTAA	0.493																																																0													92	88	89					4																	100443802		2203	4300	6503	SO:0001819	synonymous_variant	84103			AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.273G>A	4.37:g.100443802G>A			Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Silent	SNP	ENST00000326581.4	37	CCDS3649.1																																																																																				0.493	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		A	100443802	G	A	100443802	2	1	580	1	0	0	0	0	0	0	0	1	2254	933	33	2		2	C4orf17	4	100443802	Silent	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	12780904	100443802	90710474	19	31700											
LEF1	51176	hgsc.bcm.edu	37	4	109084820	109084820	+	Silent	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:109084820G>A	ENST00000265165.1	-	3	972	c.318C>T	c.(316-318)ccC>ccT	p.P106P	LEF1_ENST00000438313.2_Silent_p.P106P|LEF1_ENST00000512172.1_Silent_p.P38P|LEF1_ENST00000379951.2_Silent_p.P106P|LEF1_ENST00000510624.1_Silent_p.P38P	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	106	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCGAGTAGGAGGGTCCCTTGT	0.423																																																0													138	125	129					4																	109084820		2203	4300	6503	SO:0001819	synonymous_variant	51176				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.318C>T	4.37:g.109084820G>A			B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Silent	SNP	ENST00000265165.1	37	CCDS3679.1																																																																																				0.423	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			A	109084820	G	A	109084820	2	1	580	1	0	0	0	0	0	0	0	1	8716	987	35	2		2	LEF1	4	109084820	Silent	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	8641018	109084820	82069456	20	31701											
HSPA4L	22824	broad.mit.edu;ucsc.edu	37	4	128732596	128732596	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr4:128732596C>A	ENST00000296464.4	+	12	1794	c.1383C>A	c.(1381-1383)agC>agA	p.S461R	HSPA4L_ENST00000505726.1_Missense_Mutation_p.S435R|HSPA4L_ENST00000439123.2_Missense_Mutation_p.S492R|HSPA4L_ENST00000508776.1_Missense_Mutation_p.S461R	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	461					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.S461R(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTTAAGGGAGCTTCACTATTC	0.368																																																1	Substitution - Missense(1)	kidney(1)											112	109	110					4																	128732596		2203	4300	6503	SO:0001583	missense	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1383C>A	4.37:g.128732596C>A	ENSP00000296464:p.Ser461Arg		A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	1.223	-0.626478	0.03610	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.04194	3.68;3.68;3.68;3.68;3.68	4.53	4.53	0.55603	.	0.399721	0.28977	N	0.013523	T	0.01353	0.0044	N	0.01140	-0.99	0.34504	D	0.706368	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.36359	-0.9751	10	0.02654	T	1	.	5.3619	0.16093	0.0:0.752:0.0:0.248	.	435;461;461	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	R	461;492;461;420;435	ENSP00000422482:S461R;ENSP00000393926:S492R;ENSP00000296464:S461R;ENSP00000427305:S420R;ENSP00000425645:S435R	ENSP00000296464:S461R	S	+	3	2	HSPA4L	128952046	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	0.504000	0.22626	2.311000	0.77944	0.650000	0.86243	AGC		0.368	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		A	128732596	C	A	128732596	3	1	580	1	0	0	0	0	1	0	0	0	7415	796	28	4	1429	4	HSPA4L	4	128732596	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	19647776	128732596	62421680	21	31702											
EGFLAM	133584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	38427225	38427225	+	Missense_Mutation	SNP	G	G	A	rs370857999		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr5:38427225G>A	ENST00000354891.3	+	14	2271	c.1925G>A	c.(1924-1926)cGg>cAg	p.R642Q	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R642Q|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R8Q|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R408Q	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	642	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R642Q(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCACATTTCGGCCAGACTCA	0.522																																					Colon(62;485 1295 3347 17454)											2	Substitution - Missense(2)	kidney(2)						G	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	148	144	145		1925,1925,1223	5.8	1	5		145	0,8600		0,0,4300	no	missense,missense,missense	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2	43,43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	642/1018,642/1010,408/776	38427225	2,13004	2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1925G>A	5.37:g.38427225G>A	ENSP00000346964:p.Arg642Gln		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386979	0.42308	4.54E-4	0.0	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;D	0.83914	-0.8;-0.8;-0.8;-1.78	5.76	5.76	0.90799	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.180613	0.49916	D	0.000123	T	0.81683	0.4874	L	0.54323	1.7	0.80722	D	1	P;P;P	0.47350	0.699;0.894;0.882	B;B;B	0.40410	0.144;0.328;0.15	T	0.82311	-0.0520	10	0.45353	T	0.12	-1.5199	19.9596	0.97236	0.0:0.0:1.0:0.0	.	408;642;642	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	Q	642;642;408;8;408	ENSP00000346964:R642Q;ENSP00000313084:R642Q;ENSP00000337607:R408Q;ENSP00000380385:R8Q	ENSP00000313084:R642Q	R	+	2	0	EGFLAM	38462982	1.000000	0.71417	0.995000	0.50966	0.446000	0.32137	3.009000	0.49552	2.726000	0.93360	0.655000	0.94253	CGG		0.522	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		A	38427225	G	A	38427225	3	1	580	1	0	0	0	0	1	0	0	0	4968	1116	39	1	1993	1	EGFLAM	5	38427225	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10		38427225	142488035	22	31703											
SLCO4C1	353189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	101597678	101597678	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr5:101597678A>G	ENST00000310954.6	-	5	1245	c.959T>C	c.(958-960)cTa>cCa	p.L320P		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.L320P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GATCCATGATAGAAGAAACCC	0.373																																																1	Substitution - Missense(1)	kidney(1)											104	103	103					5																	101597678		2203	4300	6503	SO:0001583	missense	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.959T>C	5.37:g.101597678A>G	ENSP00000309741:p.Leu320Pro			Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995423	0.54147	.	.	ENSG00000173930	ENST00000310954	T	0.41400	1.0	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.228650	0.06126	N	0.669747	T	0.44787	0.1310	L	0.48218	1.51	0.20196	N	0.999928	B	0.33299	0.407	B	0.35931	0.214	T	0.44314	-0.9336	10	0.72032	D	0.01	.	12.0437	0.53466	0.9309:0.0:0.0691:0.0	.	320	Q6ZQN7	SO4C1_HUMAN	P	320	ENSP00000309741:L320P	ENSP00000309741:L320P	L	-	2	0	SLCO4C1	101625577	0.007000	0.16637	0.003000	0.11579	0.961000	0.63080	2.345000	0.44018	2.214000	0.71695	0.477000	0.44152	CTA		0.373	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		G	101597678	A	G	101597678	3	3	580	1	0	0	0	0	1	0	0	0	14736	420	15	3	1251	3	SLCO4C1	5	101597678	Missense_Mutation	SNP	A	TCGA-CZ-4866-01A-01D-1501-10	63170453	101597678	79317582	23	31704											
SLIT3	6586	hgsc.bcm.edu	37	5	168096839	168096839	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr5:168096839C>T	ENST00000519560.1	-	35	4704	c.4285G>A	c.(4285-4287)Gag>Aag	p.E1429K	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.E1429K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1436K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1429	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTAGGGCTCCCCTTGGTCT	0.592																																					Ovarian(29;311 847 10864 17279 24903)											0													124	93	103					5																	168096839		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4285G>A	5.37:g.168096839C>T	ENSP00000430333:p.Glu1429Lys		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665058	0.47677	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.75367	-0.93;-0.93;-0.92	5.13	3.2	0.36748	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.254500	0.44285	D	0.000478	T	0.64080	0.2566	L	0.28458	0.855	0.44562	D	0.997525	B	0.15141	0.012	B	0.10450	0.005	T	0.58978	-0.7540	10	0.31617	T	0.26	.	16.9435	0.86224	0.0:0.7433:0.2567:0.0	.	1429	O75094	SLIT3_HUMAN	K	1429;1436;1429	ENSP00000430333:E1429K;ENSP00000332164:E1436K;ENSP00000384890:E1429K	ENSP00000332164:E1436K	E	-	1	0	SLIT3	168029417	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.018000	0.30002	1.115000	0.41800	0.561000	0.74099	GAG		0.592	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		T	168096839	C	T	168096839	3	4	580	1	0	0	0	0	1	0	0	0	14747	864	30	2	294	2	SLIT3	5	168096839	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	66499161	168096839	12818421	24	31705											
DPCR1	135656	hgsc.bcm.edu	37	6	30918543	30918545	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr6:30918543_30918545delTTG	ENST00000462446.1	+	2	2330_2332	c.2302_2304delTTG	c.(2302-2304)ttgdel	p.L768del	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	341						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAGGACTCCATTGGCCAATGAGA	0.488																																																0																																										SO:0001651	inframe_deletion	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2302_2304delTTG	6.37:g.30918543_30918545delTTG	ENSP00000417182:p.Leu768del		C9IZC0|Q658M7|Q8WYN2	In_Frame_Del	DEL	ENST00000462446.1	37	CCDS4692.2																																																																																				0.488	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		-	30918545	TTG	-	30918543	7	5	580	1	0	1	0	1	0	0	0	0	4714	1490	52	0	2308	0	DPCR1	6	30918543	In_Frame_Del	DEL	TTG	TCGA-CZ-4866-01A-01D-1501-10		30918543	140196524	25	31706											
LY6G6F	259215	broad.mit.edu;hgsc.bcm.edu	37	6	31675443	31675444	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr6:31675443_31675444insA	ENST00000375832.4	+	2	283_284	c.261_262insA	c.(262-264)aacfs	p.N88fs	LY6G6F_ENST00000556581.1_Frame_Shift_Ins_p.N88fs|XXbac-BPG32J3.20_ENST00000461287.1_Intron|MEGT1_ENST00000503322.1_Frame_Shift_Ins_p.N88fs	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	88	Ig-like V-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GACTGCTGGGGAACTATTCTTT	0.584																																																0																																										SO:0001589	frameshift_variant	259215				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"Immunoglobulin superfamily / V-set domain containing"	13933	protein-coding gene	gene with protein product		611404	"chromosome 6 open reading frame 21"	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.263dupA	6.37:g.31675445_31675445dupA	ENSP00000364992:p.Asn88fs		B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Frame_Shift_Ins	INS	ENST00000375832.4	37	CCDS34403.1																																																																																				0.584	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		A	31675444	-	A	31675443	7	5	580	1	0	1	1	0	0	0	0	0	9098	1161	41	0	267	0	LY6G6F	6	31675443	Frame_Shift_Ins	INS	-	TCGA-CZ-4866-01A-01D-1501-10	756900	31675443	139439624	26	31707											
TMEM63B	55362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44107238	44107238	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr6:44107238G>A	ENST00000259746.9	+	7	625	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	TMEM63B_ENST00000323267.6_Missense_Mutation_p.A148T|TMEM63B_ENST00000527188.1_3'UTR			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	148					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.A148T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGGGGGCGATGCCGTGCACTA	0.582																																																1	Substitution - Missense(1)	kidney(1)											144	116	125					6																	44107238		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.442G>A	6.37:g.44107238G>A	ENSP00000259746:p.Ala148Thr		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.161310|3.161310	0.57368|0.57368	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267|ENST00000371893	T;T;T|.	0.61859|.	0.07;0.07;0.07|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73426|0.73426	0.3585|0.3585	M|M	0.83603|0.83603	2.65|2.65	0.54753|0.54753	D|D	0.999989|0.999989	D;D;P|.	0.67145|.	0.991;0.996;0.882|.	D;D;P|.	0.66497|.	0.936;0.944;0.603|.	T|T	0.76293|0.76293	-0.3012|-0.3012	10|5	0.87932|.	D|.	0|.	.|.	16.4147|16.4147	0.83730|0.83730	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	148;148;148|.	Q5T3F8-3;Q5T3F8;Q5T3F8-2|.	.;TM63B_HUMAN;.|.	T|I	148|76	ENSP00000259746:A148T;ENSP00000437163:A148T;ENSP00000327154:A148T|.	ENSP00000259746:A148T|.	A|M	+|+	1|3	0|0	TMEM63B|TMEM63B	44215216|44215216	1.000000|1.000000	0.71417|0.71417	0.194000|0.194000	0.23346|0.23346	0.162000|0.162000	0.22319|0.22319	9.583000|9.583000	0.98217|0.98217	2.356000|2.356000	0.79943|0.79943	0.561000|0.561000	0.74099|0.74099	GCC|ATG		0.582	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		A	44107238	G	A	44107238	3	1	580	1	0	0	0	0	1	0	0	0	16196	1319	46	2	464	2	TMEM63B	6	44107238	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	12431795	44107238	127007829	27	31708											
TDRD6	221400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46661744	46661744	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr6:46661744A>T	ENST00000316081.6	+	1	5879	c.5879A>T	c.(5878-5880)cAt>cTt	p.H1960L	TDRD6_ENST00000544460.1_Missense_Mutation_p.H1960L	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1960					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.H1960L(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTGCATCTACATGGAGCAGAT	0.393																																																1	Substitution - Missense(1)	kidney(1)											146	141	143					6																	46661744		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5879A>T	6.37:g.46661744A>T	ENSP00000346065:p.His1960Leu		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	9.280	1.047841	0.19827	.	.	ENSG00000180113	ENST00000544460;ENST00000316081;ENST00000371334	T;T	0.15372	2.43;2.43	4.65	-9.3	0.00649	.	2.301490	0.01629	N	0.023446	T	0.02970	0.0088	L	0.43152	1.355	0.09310	N	1	B;B	0.26258	0.145;0.09	B;B	0.21708	0.036;0.016	T	0.10200	-1.0640	10	0.38643	T	0.18	5.0643	1.8402	0.03148	0.1744:0.2018:0.3682:0.2556	.	1960;1960	F5H5M3;O60522	.;TDRD6_HUMAN	L	1960;1960;21	ENSP00000443299:H1960L;ENSP00000346065:H1960L	ENSP00000346065:H1960L	H	+	2	0	TDRD6	46769703	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.267000	0.18552	-2.705000	0.00396	-1.328000	0.01277	CAT		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		T	46661744	A	T	46661744	3	4	580	1	0	0	0	0	1	0	0	0	15739	217	8	5	5881	5	TDRD6	6	46661744	Missense_Mutation	SNP	A	TCGA-CZ-4866-01A-01D-1501-10	2554506	46661744	124453323	28	31709											
SYNJ2	8871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	158517224	158517224	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr6:158517224G>A	ENST00000355585.4	+	27	4394	c.4319G>A	c.(4318-4320)gGa>gAa	p.G1440E	SYNJ2_ENST00000367122.2_Missense_Mutation_p.G1395E|SYNJ2_ENST00000367112.1_Missense_Mutation_p.G525E	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1440					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.G1440E(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTGGACTCAGGAACCAGGAGC	0.502																																																1	Substitution - Missense(1)	kidney(1)											56	58	58					6																	158517224		2203	4300	6503	SO:0001583	missense	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.4319G>A	6.37:g.158517224G>A	ENSP00000347792:p.Gly1440Glu		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	8.106	0.777672	0.16120	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.92858	-3.1;-3.12;0.88	5.79	1.47	0.22746	.	0.612082	0.15587	N	0.254613	T	0.61060	0.2317	N	0.19112	0.55	0.09310	N	1	B;B	0.18461	0.028;0.002	B;B	0.15870	0.014;0.001	T	0.52571	-0.8558	10	0.09084	T	0.74	.	0.7318	0.00958	0.2791:0.1345:0.3844:0.202	.	835;1440	B4DLC4;O15056	.;SYNJ2_HUMAN	E	1395;1440;525	ENSP00000356089:G1395E;ENSP00000347792:G1440E;ENSP00000356079:G525E	ENSP00000347792:G1440E	G	+	2	0	SYNJ2	158437212	0.005000	0.15991	0.000000	0.03702	0.273000	0.26683	0.480000	0.22244	-0.113000	0.11958	-0.147000	0.13772	GGA		0.502	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			A	158517224	G	A	158517224	3	1	580	1	0	0	0	0	1	0	0	0	15458	1174	41	2	4425	2	SYNJ2	6	158517224	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	111855480	158517224	12597843	29	31710											
AQP1	358	broad.mit.edu	37	7	30963232	30963232	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:30963232G>A	ENST00000311813.4	+	4	853	c.798G>A	c.(796-798)atG>atA	p.M266I	AQP1_ENST00000509504.1_Missense_Mutation_p.M443I|AQP1_ENST00000441328.2_Missense_Mutation_p.M183I|AQP1_ENST00000409611.1_Missense_Mutation_p.M215I|AQP1_ENST00000409899.1_Missense_Mutation_p.M151I|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000434909.2_Missense_Mutation_p.M326I	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	266					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.M266I(1)|p.M183I(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	GGGTGGAGATGAAGCCCAAAT	0.632																																																2	Substitution - Missense(2)	kidney(2)											34	31	32					7																	30963232		2203	4300	6503	SO:0001583	missense	358			M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"Ion channels / Aquaporins", "Blood group antigens"	633	protein-coding gene	gene with protein product		107776	"Colton blood group", "aquaporin 1 (channel-forming integral protein, 28kDa)", "aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)", "aquaporin 1"	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.798G>A	7.37:g.30963232G>A	ENSP00000311165:p.Met266Ile		B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277496	0.80580	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000311813;ENST00000413400;ENST00000441328;ENST00000409899;ENST00000409611;ENST00000509504	D;D;D;D;D;D	0.93859	-2.23;-1.93;-2.92;-3.3;-2.96;-2.23	5.13	5.13	0.70059	.	0.090708	0.85682	D	0.000000	D	0.95108	0.8415	L	0.59436	1.845	0.51233	D	0.999919	P;P;P;P	0.50528	0.936;0.936;0.851;0.936	P;P;P;P	0.61201	0.885;0.885;0.838;0.885	D	0.95283	0.8388	10	0.66056	D	0.02	-32.5721	14.1046	0.65080	0.0:0.0:1.0:0.0	.	326;215;151;266	B4E220;E7EM69;E9PC21;P29972	.;.;.;AQP1_HUMAN	I	326;266;251;183;151;215;443	ENSP00000395059:M326I;ENSP00000311165:M266I;ENSP00000405698:M183I;ENSP00000386712:M151I;ENSP00000387178:M215I;ENSP00000421315:M443I	ENSP00000311165:M266I	M	+	3	0	RP5-877J2.1;AQP1	30929757	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.393000	0.90182	2.381000	0.81170	0.549000	0.68633	ATG		0.632	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		A	30963232	G	A	30963232	3	1	580	1	0	0	0	0	1	0	0	0	821	1290	45	2	1069	2	AQP1	7	30963232	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10		30963232	128175431	30	31711											
OGDH	4967	hgsc.bcm.edu;ucsc.edu	37	7	44713430	44713434	+	Frame_Shift_Del	DEL	TGACC	TGACC	-	rs200177390		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	TGACC	TGACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:44713430_44713434delTGACC	ENST00000222673.5	+	6	720_724	c.678_682delTGACC	c.(676-684)aatgacctgfs	p.DL227fs	OGDH_ENST00000444676.1_Frame_Shift_Del_p.DL242fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.DL178fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.DL223fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.DL227fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.DL238fs|OGDH_ENST00000459672.1_3'UTR	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	227					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TGTTCATCAATGACCTGGAGCAGTG	0.527																																																0																																										SO:0001589	frameshift_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.678_682delTGACC	7.37:g.44713430_44713434delTGACC	ENSP00000222673:p.Asp227fs		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	CCDS34627.1																																																																																				0.527	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			-	44713434	TGACC	-	44713430	7	5	580	1	0	1	0	1	0	0	0	0	10841	1461	51	0	791	0	OGDH	7	44713430	Frame_Shift_Del	DEL	TGACC	TCGA-CZ-4866-01A-01D-1501-10	13750198	44713430	114425233	31	31712											
TNS3	64759	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	47384598	47384598	+	Silent	SNP	G	G	T	rs200492693		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:47384598G>T	ENST00000398879.1	-	19	2856	c.2490C>A	c.(2488-2490)atC>atA	p.I830I	TNS3_ENST00000355730.3_Silent_p.I590I|TNS3_ENST00000311160.9_Silent_p.I830I			Q68CZ2	TENS3_HUMAN	tensin 3	830					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.I830I(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTCTGCCATCGATAATATCGA	0.478																																																1	Substitution - coding silent(1)	kidney(1)											93	90	91					7																	47384598		1986	4165	6151	SO:0001819	synonymous_variant	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2490C>A	7.37:g.47384598G>T			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	CCDS5506.2																																																																																				0.478	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		T	47384598	G	T	47384598	2	4	580	1	0	0	0	0	0	0	0	1	16349	1048	37	4		4	TNS3	7	47384598	Silent	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	2671168	47384598	111754065	32	31713											
ABCA13	154664	hgsc.bcm.edu	37	7	48563848	48563848	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:48563848C>T	ENST00000435803.1	+	54	14080	c.14056C>T	c.(14056-14058)Cat>Tat	p.H4686Y	ABCA13_ENST00000544596.1_Missense_Mutation_p.H416Y	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4686					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCCAGGGGTCATTCTACTCT	0.388																																																0													61	57	58					7																	48563848		1842	4093	5935	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14056C>T	7.37:g.48563848C>T	ENSP00000411096:p.His4686Tyr		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880469	0.17467	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87029	-1.98;-2.2;-2.16	5.43	4.54	0.55810	.	0.693357	0.13152	N	0.409810	T	0.66848	0.2831	N	0.03608	-0.345	0.09310	N	1	B;B;P	0.37955	0.435;0.108;0.612	B;B;B	0.33620	0.167;0.15;0.121	T	0.59408	-0.7460	10	0.02654	T	1	.	11.3159	0.49392	0.0:0.916:0.0:0.084	.	416;2388;4686	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	Y	4686;459;416	ENSP00000411096:H4686Y;ENSP00000391042:H459Y;ENSP00000442634:H416Y	ENSP00000391042:H459Y	H	+	1	0	ABCA13	48534394	0.006000	0.16342	0.010000	0.14722	0.027000	0.11550	2.118000	0.41949	2.687000	0.91594	0.655000	0.94253	CAT		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		T	48563848	C	T	48563848	3	4	580	1	0	0	0	0	1	0	0	0	31	826	29	2	14099	2	ABCA13	7	48563848	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	1179250	48563848	110574815	33	31714											
ABCB1	5243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	87196210	87196210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:87196210C>A	ENST00000265724.3	-	7	838	c.421G>T	c.(421-423)Gga>Tga	p.G141*	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	141	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G141*(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATTTGTCTTCCAGCTGCCAGG	0.433																																																1	Substitution - Nonsense(1)	kidney(1)											116	113	114					7																	87196210		2203	4300	6503	SO:0001587	stop_gained	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.421G>T	7.37:g.87196210C>A	ENSP00000265724:p.Gly141*		A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	41	8.722636	0.98929	.	.	ENSG00000085563	ENST00000265724	.	.	.	5.76	5.76	0.90799	.	0.100347	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-19.1656	18.1543	0.89686	0.0:1.0:0.0:0.0	.	.	.	.	X	141	.	ENSP00000265724:G141X	G	-	1	0	ABCB1	87034146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.502000	0.60400	2.732000	0.93576	0.655000	0.94253	GGA		0.433	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87196210	C	A	87196210	4	1	580	1	0	0	0	0	0	1	0	0	40	603	21	4	3513	4	ABCB1	7	87196210	Nonsense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	38632362	87196210	71942453	34	31715											
AKAP9	10142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91631974	91631974	+	Missense_Mutation	SNP	T	T	A	rs371599265		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:91631974T>A	ENST00000359028.2	+	9	3004	c.2779T>A	c.(2779-2781)Tct>Act	p.S927T	AKAP9_ENST00000356239.3_Missense_Mutation_p.S915T|AKAP9_ENST00000358100.2_Missense_Mutation_p.S927T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	927	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.S927T(1)|p.S915T(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGAAAAGTTCTGTCTTTGA	0.313			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	kidney(2)						T	THR/SER,THR/SER	0,4406		0,0,2203	41	43	42		2743,2743	1.1	0	7		42	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AKAP9	NM_005751.4,NM_147185.2	58,58	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	915/3908,915/3900	91631974	1,13005	2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2779T>A	7.37:g.91631974T>A	ENSP00000351922:p.Ser927Thr		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	T	0.011	-1.705690	0.00719	0.0	1.16E-4	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03580	3.89;3.89;3.88	5.29	1.1	0.20463	.	0.701372	0.11820	N	0.526299	T	0.04952	0.0133	L	0.59436	1.845	0.09310	N	1	B;B;B;B	0.32245	0.361;0.152;0.152;0.128	B;B;B;B	0.27608	0.081;0.08;0.08;0.028	T	0.28038	-1.0056	10	0.87932	D	0	.	9.3636	0.38210	0.1192:0.0:0.4879:0.3929	.	927;915;915;927	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	T	915;927;927;927;927	ENSP00000348573:S915T;ENSP00000351922:S927T;ENSP00000350813:S927T	ENSP00000348573:S915T	S	+	1	0	AKAP9	91469910	0.000000	0.05858	0.007000	0.13788	0.030000	0.12068	-0.035000	0.12205	0.346000	0.23899	0.533000	0.62120	TCT		0.313	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		A	91631974	T	A	91631974	3	1	580	1	0	0	0	0	1	0	0	0	459	1783	62	5	2773	5	AKAP9	7	91631974	Missense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10	4435764	91631974	67506689	35	31716											
CCDC132	55610	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92970752	92970752	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:92970752A>G	ENST00000305866.5	+	23	2200	c.2072A>G	c.(2071-2073)gAt>gGt	p.D691G	CCDC132_ENST00000544910.1_Missense_Mutation_p.D661G|CCDC132_ENST00000541136.1_Missense_Mutation_p.D502G|CCDC132_ENST00000535481.1_Missense_Mutation_p.D411G|CCDC132_ENST00000474412.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	691						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.D691G(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTTCAGCTGATCCTACTGCC	0.383																																																1	Substitution - Missense(1)	kidney(1)											98	100	99					7																	92970752		1962	4150	6112	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2072A>G	7.37:g.92970752A>G	ENSP00000307666:p.Asp691Gly		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487939	0.26686	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481	.	.	.	5.55	5.55	0.83447	.	0.048905	0.85682	D	0.000000	T	0.48960	0.1529	N	0.22421	0.69	0.80722	D	1	P;P;P	0.37330	0.455;0.59;0.455	B;B;B	0.39738	0.146;0.308;0.243	T	0.53906	-0.8372	9	0.56958	D	0.05	-0.1871	16.0135	0.80420	1.0:0.0:0.0:0.0	.	411;661;691	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	G	691;661;502;411	.	ENSP00000307666:D691G	D	+	2	0	CCDC132	92808688	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	8.707000	0.91367	2.242000	0.73789	0.533000	0.62120	GAT		0.383	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		G	92970752	A	G	92970752	3	3	580	1	0	0	0	0	1	0	0	0	2769	333	12	3	2204	3	CCDC132	7	92970752	Missense_Mutation	SNP	A	TCGA-CZ-4866-01A-01D-1501-10	1338778	92970752	66167911	36	31717											
GIGYF1	64599	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100281055	100281055	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:100281055T>A	ENST00000275732.5	-	18	3274	c.2065A>T	c.(2065-2067)Aga>Tga	p.R689*	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	689					insulin-like growth factor receptor signaling pathway (GO:0048009)			p.R689*(1)|p.R408*(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCCACTTCTCTGCGCTCCTGG	0.667																																																2	Substitution - Nonsense(2)	kidney(2)											111	124	120					7																	100281055		2203	4300	6503	SO:0001587	stop_gained	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2065A>T	7.37:g.100281055T>A	ENSP00000275732:p.Arg689*		Q6Y7W7|Q8WZ38	Nonsense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	48	14.768981	0.99809	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	.	.	.	3.81	3.81	0.43845	.	0.076883	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.7484	7.1968	0.25858	0.0:0.0:0.2281:0.7719	.	.	.	.	X	408;689	.	ENSP00000275732:R689X	R	-	1	2	GIGYF1	100118991	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	0.762000	0.26503	1.605000	0.50152	0.260000	0.18958	AGA		0.667	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		A	100281055	T	A	100281055	4	1	580	1	0	0	0	0	0	1	0	0	6379	1588	55	5	1070	5	GIGYF1	7	100281055	Nonsense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10	7310303	100281055	58857608	37	31718											
ZNF800	168850	broad.mit.edu;hgsc.bcm.edu	37	7	127013601	127013601	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:127013601T>C	ENST00000393313.1	-	5	2380	c.1789A>G	c.(1789-1791)Agt>Ggt	p.S597G	ZNF800_ENST00000265827.3_Missense_Mutation_p.S597G|ZNF800_ENST00000393312.1_Missense_Mutation_p.S597G|ZNF800_ENST00000485577.1_5'UTR			Q2TB10	ZN800_HUMAN	zinc finger protein 800	597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S597G(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TACTTTTTACTAGGAGAGTTA	0.363																																																2	Substitution - Missense(2)	kidney(2)											138	139	139					7																	127013601		2203	4300	6503	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1789A>G	7.37:g.127013601T>C	ENSP00000376989:p.Ser597Gly		Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	T	5.514	0.279858	0.10458	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.15487	2.42;2.42;2.42	5.7	4.56	0.56223	.	0.321794	0.34777	N	0.003685	T	0.09468	0.0233	N	0.08118	0	0.27545	N	0.950686	B;B	0.20261	0.043;0.043	B;B	0.19946	0.027;0.027	T	0.08659	-1.0711	9	0.44086	T	0.13	-17.7245	10.6978	0.45909	0.0:0.0743:0.0:0.9257	.	500;597	B7Z4V7;Q2TB10	.;ZN800_HUMAN	G	597	ENSP00000376989:S597G;ENSP00000265827:S597G;ENSP00000376988:S597G	ENSP00000265827:S597G	S	-	1	0	ZNF800	126800837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.513000	0.53414	1.003000	0.39130	0.533000	0.62120	AGT		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		C	127013601	T	C	127013601	3	2	580	1	0	0	0	0	1	0	0	0	18174	1522	53	3	213	3	ZNF800	7	127013601	Missense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10	26732546	127013601	32125062	38	31719											
EPHA1	2041	broad.mit.edu;hgsc.bcm.edu	37	7	143097036	143097036	+	Silent	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr7:143097036G>A	ENST00000275815.3	-	4	629	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	181	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.L181L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AAGCGAGGTAGAGGCCACGGC	0.622																																																2	Substitution - coding silent(2)	kidney(2)											31	32	32					7																	143097036		2203	4299	6502	SO:0001819	synonymous_variant	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.543C>T	7.37:g.143097036G>A			A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	CCDS5884.1																																																																																				0.622	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			A	143097036	G	A	143097036	2	1	580	1	0	0	0	0	0	0	0	1	5167	929	33	2		2	EPHA1	7	143097036	Silent	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	16083435	143097036	16041627	39	31720											
GATA4	2626	broad.mit.edu;ucsc.edu	37	8	11615820	11615820	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr8:11615820A>C	ENST00000335135.4	+	7	1723	c.1165A>C	c.(1165-1167)Atg>Ctg	p.M389L	GATA4_ENST00000532059.1_Missense_Mutation_p.M390L|GATA4_ENST00000528712.1_Missense_Mutation_p.M183L	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	389					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.M389L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		AGTCAGTGCGATGTCTGGCCA	0.622																																																1	Substitution - Missense(1)	kidney(1)											149	130	137					8																	11615820		2203	4300	6503	SO:0001583	missense	2626			AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"GATA zinc finger domain containing"	4173	protein-coding gene	gene with protein product		600576	"GATA-binding protein 4"			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1165A>C	8.37:g.11615820A>C	ENSP00000334458:p.Met389Leu		B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959019	0.34565	.	.	ENSG00000136574	ENST00000528712;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D	0.98777	-5.13;-4.57;-4.57	5.61	4.47	0.54385	.	0.458483	0.25148	N	0.032776	D	0.96586	0.8886	M	0.64404	1.975	0.35800	D	0.823068	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.94739	0.7917	10	0.17369	T	0.5	-19.6337	8.1339	0.31043	0.8928:0.0:0.1072:0.0	.	390;389	B7ZKZ4;P43694	.;GATA4_HUMAN	L	183;389;388;390	ENSP00000435043:M183L;ENSP00000334458:M389L;ENSP00000435712:M390L	ENSP00000259090:M388L	M	+	1	0	GATA4	11653229	0.995000	0.38212	0.811000	0.32455	0.861000	0.49209	3.198000	0.51035	0.968000	0.38212	0.460000	0.39030	ATG		0.622	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		C	11615820	A	C	11615820	3	2	580	1	0	0	0	0	1	0	0	0	6258	333	12	5	1187	5	GATA4	8	11615820	Missense_Mutation	SNP	A	TCGA-CZ-4866-01A-01D-1501-10		11615820	134748202	40	31721											
PENK	5179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	57354188	57354188	+	Silent	SNP	C	C	T	rs367810374		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr8:57354188C>T	ENST00000314922.3	-	2	523	c.447G>A	c.(445-447)tcG>tcA	p.S149S	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Silent_p.S149S	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	149					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.S149S(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AATTGGCCAGCGAGTCGTCCT	0.532																																																1	Substitution - coding silent(1)	kidney(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	106	104	105		447,447	-3.4	0	8		105	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PENK	NM_001135690.1,NM_006211.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	149/268,149/268	57354188	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5179				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.447G>A	8.37:g.57354188C>T			B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	ENST00000314922.3	37	CCDS6168.1																																																																																				0.532	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			T	57354188	C	T	57354188	2	4	580	1	0	0	0	0	0	0	0	1	11729	755	27	1		1	PENK	8	57354188	Silent	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	45738368	57354188	89009834	41	31722											
FRMPD1	22844	broad.mit.edu	37	9	37746529	37746529	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr9:37746529delG	ENST00000539465.1	+	16	5093	c.4500delG	c.(4498-4500)ctgfs	p.L1500fs	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Frame_Shift_Del_p.L1500fs			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1500						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGGTCCAGCTGGCCGGCCTGT	0.622																																																0													33	35	35					9																	37746529		2203	4300	6503	SO:0001589	frameshift_variant	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4500delG	9.37:g.37746529delG	ENSP00000444411:p.Leu1500fs		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Frame_Shift_Del	DEL	ENST00000539465.1	37	CCDS6612.1																																																																																				0.622	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		-	37746529	G	-	37746529	7	5	580	1	0	1	0	1	0	0	0	0	6059	1335	47	0	4558	0	FRMPD1	9	37746529	Frame_Shift_Del	DEL	G	TCGA-CZ-4866-01A-01D-1501-10		37746529	103466902	42	31723											
KLF9	687	broad.mit.edu	37	9	73027890	73027890	+	Silent	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr9:73027890T>C	ENST00000377126.2	-	1	1650	c.390A>G	c.(388-390)ggA>ggG	p.G130G		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	130					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G130G(1)		endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						TCGCAGCCACTCCAGGATGGA	0.607																																																1	Substitution - coding silent(1)	kidney(1)											86	91	90					9																	73027890		2203	4300	6503	SO:0001819	synonymous_variant	687			BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	1123	protein-coding gene	gene with protein product		602902	"basic transcription element binding protein 1"	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.390A>G	9.37:g.73027890T>C			B2R943|Q16196	Silent	SNP	ENST00000377126.2	37	CCDS6633.1																																																																																				0.607	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		C	73027890	T	C	73027890	2	2	580	1	0	0	0	0	0	0	0	1	8355	1538	54	3		3	KLF9	9	73027890	Silent	SNP	T	TCGA-CZ-4866-01A-01D-1501-10	35281361	73027890	68185541	43	31724											
GOT1	2805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	101165548	101165549	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr10:101165548_101165549delGA	ENST00000370508.5	-	5	633_634	c.606_607delTC	c.(604-609)actccgfs	p.P203fs	GOT1_ENST00000543866.1_Frame_Shift_Del_p.P182fs	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	203					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CACTGCTCCGGAGTTGGGTCAA	0.45																																					Melanoma(173;770 3544 21601)											0																																										SO:0001589	frameshift_variant	2805			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.606_607delTC	10.37:g.101165548_101165549delGA	ENSP00000359539:p.Pro203fs		B2R6R7|B7Z7E9|Q5VW80	Frame_Shift_Del	DEL	ENST00000370508.5	37	CCDS7479.1																																																																																				0.45	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		-	101165549	GA	-	101165548	7	5	580	1	0	1	0	1	0	0	0	0	6581	1174	41	0	654	0	GOT1	10	101165548	Frame_Shift_Del	DEL	GA	TCGA-CZ-4866-01A-01D-1501-10		101165548	34369199	44	31725											
OR52J3	119679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5068157	5068157	+	Silent	SNP	C	C	T	rs149427006		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:5068157C>T	ENST00000380370.1	+	1	402	c.402C>T	c.(400-402)taC>taT	p.Y134Y		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y134Y(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTACATTACGCAACCATCT	0.488																																																1	Substitution - coding silent(1)	kidney(1)						C		0,4402		0,0,2201	182	118	140		402	2	0.1	11	dbSNP_134	140	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	OR52J3	NM_001001916.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		134/312	5068157	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.402C>T	11.37:g.5068157C>T			Q6IFE4	Silent	SNP	ENST00000380370.1	37	CCDS31370.1																																																																																				0.488	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		T	5068157	C	T	5068157	2	4	580	1	0	0	0	0	0	0	0	1	11124	547	19	1		1	OR52J3	11	5068157	Silent	SNP	C	TCGA-CZ-4866-01A-01D-1501-10		5068157	129938359	45	31726											
SLC39A13	91252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47433931	47433931	+	Silent	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:47433931G>A	ENST00000362021.4	+	4	492	c.450G>A	c.(448-450)caG>caA	p.Q150Q	SLC39A13_ENST00000524928.1_Silent_p.Q150Q|SLC39A13_ENST00000531974.1_3'UTR|SLC39A13_ENST00000533076.1_Silent_p.Q150Q|SLC39A13_ENST00000354884.4_Silent_p.Q150Q|SLC39A13_ENST00000529740.1_3'UTR	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	150	Poly-Gln.				cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)	p.Q150Q(1)		breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		AGCAGCAACAGCTGGGGCTGT	0.662											OREG0020959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											45	39	41					11																	47433931		2201	4298	6499	SO:0001819	synonymous_variant	91252				CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"Solute carriers"	20859	protein-coding gene	gene with protein product		608735	"solute carrier family 39 (metal ion transporter), member 13"			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.450G>A	11.37:g.47433931G>A		946	D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Silent	SNP	ENST00000362021.4	37	CCDS44592.1																																																																																				0.662	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	NM_152264		A	47433931	G	A	47433931	2	1	580	1	0	0	0	0	0	0	0	1	14622	962	34	2		2	SLC39A13	11	47433931	Silent	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	42365774	47433931	87572585	46	31727											
MS4A2	2206	hgsc.bcm.edu;ucsc.edu	37	11	59860282	59860283	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:59860282_59860283insT	ENST00000278888.3	+	4	441_442	c.339_340insT	c.(340-342)ttgfs	p.L114fs		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	114					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TTTCTGGAATGTTGTCAATTAT	0.351																																																0																																										SO:0001589	frameshift_variant	2206			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.341dupT	11.37:g.59860284_59860284dupT	ENSP00000278888:p.Leu114fs		Q54A81	Frame_Shift_Ins	INS	ENST00000278888.3	37	CCDS7980.1																																																																																				0.351	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			T	59860283	-	T	59860282	7	5	580	1	0	1	1	0	0	0	0	0	9862	1377	48	0	353	0	MS4A2	11	59860282	Frame_Shift_Ins	INS	-	TCGA-CZ-4866-01A-01D-1501-10	12426351	59860282	75146234	47	31728											
SNX32	254122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65617711	65617711	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:65617711G>C	ENST00000308342.6	+	4	768	c.343G>C	c.(343-345)Gag>Cag	p.E115Q		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	115	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.E115Q(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CACTCGGGAAGAGTTTGCCAA	0.577																																																1	Substitution - Missense(1)	kidney(1)											69	71	71					11																	65617711		2201	4297	6498	SO:0001583	missense	254122			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.343G>C	11.37:g.65617711G>C	ENSP00000310620:p.Glu115Gln		Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	CCDS8113.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.312238|4.312238	0.81358|0.81358	.|.	.|.	ENSG00000172803|ENSG00000172803	ENST00000308342|ENST00000536740	T|.	0.35236|.	1.32|.	4.48|4.48	3.56|3.56	0.40772|0.40772	Phox homologous domain (4);|.	0.646397|.	0.14340|.	N|.	0.325787|.	T|T	0.79563|0.79563	0.4467|0.4467	M|M	0.92219|0.92219	3.285|3.285	0.37433|0.37433	D|D	0.9141|0.9141	P|.	0.52692|.	0.955|.	B|.	0.40256|.	0.324|.	D|D	0.84747|0.84747	0.0754|0.0754	10|6	0.72032|0.72032	D|D	0.01|0.01	-24.0427|-24.0427	10.2072|10.2072	0.43120|0.43120	0.0988:0.0:0.9012:0.0|0.0988:0.0:0.9012:0.0	.|.	115|.	Q86XE0|.	SNX32_HUMAN|.	Q|T	115|93	ENSP00000310620:E115Q|.	ENSP00000310620:E115Q|ENSP00000440891:R93T	E|R	+|+	1|2	0|0	SNX32|SNX32	65374287|65374287	1.000000|1.000000	0.71417|0.71417	0.361000|0.361000	0.25849|0.25849	0.980000|0.980000	0.70556|0.70556	8.882000|8.882000	0.92420|0.92420	1.092000|1.092000	0.41356|0.41356	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.577	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		C	65617711	G	C	65617711	3	2	580	1	0	0	0	0	1	0	0	0	14908	943	33	4	357	4	SNX32	11	65617711	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	5757429	65617711	69388805	48	31729											
ARHGEF17	9828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73066671	73066671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:73066671delC	ENST00000263674.3	+	4	3897	c.3547delC	c.(3547-3549)cctfs	p.P1183fs	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1183	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGAGGCGAGGCCTGCCTTTCT	0.557																																																0													99	93	95					11																	73066671		2200	4293	6493	SO:0001589	frameshift_variant	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3547delC	11.37:g.73066671delC	ENSP00000263674:p.Pro1183fs		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Frame_Shift_Del	DEL	ENST00000263674.3	37	CCDS8221.1																																																																																				0.557	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		-	73066671	C	-	73066671	7	5	580	1	0	1	0	1	0	0	0	0	900	739	26	0	3561	0	ARHGEF17	11	73066671	Frame_Shift_Del	DEL	C	TCGA-CZ-4866-01A-01D-1501-10	7448960	73066671	61939845	49	31730											
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103024178	103024178	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:103024178G>T	ENST00000375735.2	+	22	3387	c.3243G>T	c.(3241-3243)aaG>aaT	p.K1081N	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K1081N	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1081	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAAGTGCAAAGTTAATAAAAG	0.303																																																0													35	35	35					11																	103024178		1792	4042	5834	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3243G>T	11.37:g.103024178G>T	ENSP00000364887:p.Lys1081Asn		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263456	0.39995	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.28895	1.59;1.59	5.61	5.61	0.85477	.	0.287880	0.25860	U	0.027827	T	0.24774	0.0601	N	0.25647	0.755	0.39907	D	0.973975	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.08764	-1.0706	10	0.15499	T	0.54	.	19.6978	0.96034	0.0:0.0:1.0:0.0	.	1081;1081	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	N	1081	ENSP00000364887:K1081N;ENSP00000381167:K1081N	ENSP00000364887:K1081N	K	+	3	2	DYNC2H1	102529388	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	3.658000	0.54482	2.664000	0.90586	0.632000	0.83419	AAG		0.303	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		T	103024178	G	T	103024178	3	4	580	1	0	0	0	0	1	0	0	0	4848	1020	36	4	3329	4	DYNC2H1	11	103024178	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	29957507	103024178	31982338	50	31731											
USP2	9099	broad.mit.edu;ucsc.edu	37	11	119229962	119229962	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:119229962G>A	ENST00000260187.2	-	5	1334	c.1040C>T	c.(1039-1041)gCa>gTa	p.A347V	USP2_ENST00000525735.1_Missense_Mutation_p.A138V|USP2_ENST00000455332.2_Missense_Mutation_p.A104V	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	347	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A347V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AAAGCGCGGTGCGTATCTCTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											90	79	83					11																	119229962		2199	4295	6494	SO:0001583	missense	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1040C>T	11.37:g.119229962G>A	ENSP00000260187:p.Ala347Val		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116058	0.56505	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.33438	1.41;1.41;1.41	5.91	5.91	0.95273	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.096661	0.64402	D	0.000001	T	0.42585	0.1209	L	0.57130	1.785	0.58432	D	0.999999	P;P;P	0.48503	0.68;0.911;0.456	B;P;B	0.48921	0.243;0.595;0.17	T	0.07290	-1.0780	10	0.38643	T	0.18	-3.6066	18.8744	0.92328	0.0:0.0:1.0:0.0	.	104;347;138	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	V	104;347;94;138	ENSP00000407842:A104V;ENSP00000260187:A347V;ENSP00000436952:A138V	ENSP00000260187:A347V	A	-	2	0	USP2	118735172	1.000000	0.71417	0.872000	0.34217	0.917000	0.54804	7.856000	0.86956	2.813000	0.96785	0.655000	0.94253	GCA		0.498	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		A	119229962	G	A	119229962	3	1	580	1	0	0	0	0	1	0	0	0	17056	1319	46	2	813	2	USP2	11	119229962	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	16205784	119229962	15776554	51	31732											
OR8G2	0	hgsc.bcm.edu	37	11	124096257	124096257	+	IGR	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:124096257C>T								OR10D3 (39305 upstream) : OR8G1 (24165 downstream)																							GGGAAAGTGTCCTCTGTGTTT	0.463																																																0													74	72	73					11																	124096257		1964	4168	6132	SO:0001628	intergenic_variant	26492																															11.37:g.124096257C>T				Missense_Mutation	SNP		37																																																																																				0	0.463									T	124096257	C	T	124096257	1	4	580	0	1	0	0	0	0	0	0	0	11237	855	30	2		2	OR8G2	11	124096257	IGR	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	4866295	124096257	10910259	52	31733											
OR8B3	390271	broad.mit.edu;hgsc.bcm.edu	37	11	124266328	124266328	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr11:124266328A>T	ENST00000354597.3	-	1	936	c.920T>A	c.(919-921)aTt>aAt	p.I307N		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I307N(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCTTCTCTGAATTTTAATCAG	0.328																																																1	Substitution - Missense(1)	kidney(1)											47	50	49					11																	124266328		2200	4298	6498	SO:0001583	missense	390271			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.920T>A	11.37:g.124266328A>T	ENSP00000346611:p.Ile307Asn		Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	10.58	1.389183	0.25118	.	.	ENSG00000196661	ENST00000354597	T	0.37235	1.21	3.79	3.79	0.43588	.	0.804248	0.10734	N	0.640250	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10177	-1.0641	10	0.27785	T	0.31	.	11.1431	0.48415	1.0:0.0:0.0:0.0	.	307	Q8NGG8	OR8B3_HUMAN	N	307	ENSP00000346611:I307N	ENSP00000346611:I307N	I	-	2	0	OR8B3	123771538	0.877000	0.30153	0.734000	0.30879	0.058000	0.15608	4.552000	0.60747	1.940000	0.56252	0.455000	0.32223	ATT		0.328	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		T	124266328	A	T	124266328	3	4	580	1	0	0	0	0	1	0	0	0	11230	101	4	5	23	5	OR8B3	11	124266328	Missense_Mutation	SNP	A	TCGA-CZ-4866-01A-01D-1501-10	170071	124266328	10740188	53	31734											
WBP11	51729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14943401	14943401	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:14943401C>A	ENST00000261167.2	-	10	1531	c.1298G>T	c.(1297-1299)gGt>gTt	p.G433V		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	433	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G433V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGGAGGTGGACCAGGAGGAAG	0.463																																																1	Substitution - Missense(1)	kidney(1)											95	100	98					12																	14943401		2203	4300	6503	SO:0001583	missense	51729			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1298G>T	12.37:g.14943401C>A	ENSP00000261167:p.Gly433Val		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694202	0.48202	.	.	ENSG00000084463	ENST00000261167	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71556	-0.4557	9	0.11794	T	0.64	-21.5876	15.08	0.72108	0.0:1.0:0.0:0.0	.	433	Q9Y2W2	WBP11_HUMAN	V	433	.	ENSP00000261167:G433V	G	-	2	0	WBP11	14834668	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.917000	0.63369	2.426000	0.82243	0.655000	0.94253	GGT		0.463	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		A	14943401	C	A	14943401	3	1	580	1	0	0	0	0	1	0	0	0	17263	507	18	4	639	4	WBP11	12	14943401	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10		14943401	118908494	54	31735											
ANKRD33	341405	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52282005	52282005	+	5'UTR	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:52282005C>T	ENST00000340970.4	+	0	5				ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000301190.6_Missense_Mutation_p.S12F			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.S12F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGCGTTGCTTCCTGGGGAGGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											116	112	114					12																	52282005		2203	4300	6503	SO:0001623	5_prime_UTR_variant	341405				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.-367C>T	12.37:g.52282005C>T			Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136403	0.37728	.	.	ENSG00000167612	ENST00000301190	T	0.22539	1.95	3.17	2.27	0.28462	.	.	.	.	.	T	0.12518	0.0304	N	0.14661	0.345	0.26348	N	0.977254	P;B	0.44816	0.844;0.033	B;B	0.41619	0.361;0.018	T	0.10989	-1.0606	9	0.72032	D	0.01	.	6.4759	0.22034	0.0:0.8628:0.0:0.1372	.	12;12	F8VTQ6;Q7Z3H0-2	.;.	F	12	ENSP00000301190:S12F	ENSP00000301190:S12F	S	+	2	0	ANKRD33	50568272	0.000000	0.05858	0.062000	0.19696	0.344000	0.29017	-0.088000	0.11198	0.900000	0.36469	0.462000	0.41574	TCC		0.607	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		T	52282005	C	T	52282005	1	4	580	0	1	0	0	0	0	0	0	0	661	855	30	2		2	ANKRD33	12	52282005	5'UTR	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	37338604	52282005	81569890	55	31736											
CCT2	10576	broad.mit.edu;ucsc.edu	37	12	69985846	69985846	+	Silent	SNP	G	G	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:69985846G>T	ENST00000299300.6	+	8	845	c.657G>T	c.(655-657)ctG>ctT	p.L219L	CCT2_ENST00000543146.2_Silent_p.L172L|CCT2_ENST00000544368.2_Silent_p.L219L	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	219					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.L219L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TAGGCTTCCTGTTGGATAAAA	0.284																																																1	Substitution - coding silent(1)	kidney(1)											55	64	61					12																	69985846		2202	4299	6501	SO:0001819	synonymous_variant	10576			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.657G>T	12.37:g.69985846G>T			A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	CCDS8991.1																																																																																				0.284	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		T	69985846	G	T	69985846	2	4	580	1	0	0	0	0	0	0	0	1	2955	1364	48	4		4	CCT2	12	69985846	Silent	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	17703841	69985846	63866049	56	31737											
MGAT4C	25834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	86383258	86383258	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:86383258G>A	ENST00000604798.1	-	6	1271	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	MGAT4C_ENST00000393205.2_Missense_Mutation_p.R52C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R23C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R23C|MGAT4C_ENST00000552435.2_Missense_Mutation_p.R23C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R23C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R23C			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	23					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R23C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACTGTAGAACGTTTTCTCAGG	0.323																																																1	Substitution - Missense(1)	kidney(1)											82	72	76					12																	86383258		2202	4299	6501	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.67C>T	12.37:g.86383258G>A	ENSP00000474896:p.Arg23Cys		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194687	0.78902	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.52754	1.25;1.19;1.25;1.25;1.25;0.65	5.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	L	0.36672	1.1	0.58432	D	0.999997	D;D	0.89917	1.0;0.995	D;P	0.83275	0.996;0.635	T	0.59418	-0.7458	10	0.56958	D	0.05	-5.7685	14.9338	0.70938	0.0:0.0:0.7211:0.2789	.	52;23	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	C	23;52;23;23;23;23;23;23	ENSP00000331664:R23C;ENSP00000376900:R52C;ENSP00000449022:R23C;ENSP00000446647:R23C;ENSP00000447253:R23C;ENSP00000449172:R23C	ENSP00000331664:R23C	R	-	1	0	MGAT4C	84907389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.096000	0.57734	2.749000	0.94314	0.655000	0.94253	CGT		0.323	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		A	86383258	G	A	86383258	3	1	580	1	0	0	0	0	1	0	0	0	9549	1145	40	1	1381	1	MGAT4C	12	86383258	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	16397412	86383258	47468637	57	31738											
ACACB	32	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109689927	109689927	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:109689927A>T	ENST00000338432.7	+	42	5986	c.5867A>T	c.(5866-5868)cAc>cTc	p.H1956L	ACACB_ENST00000543201.1_Missense_Mutation_p.H622L|ACACB_ENST00000377854.5_Missense_Mutation_p.H1886L|ACACB_ENST00000377848.3_Missense_Mutation_p.H1956L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1956	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.H1956L(1)|p.H622L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAGAATTCCCACATCATCCTC	0.562																																																2	Substitution - Missense(2)	kidney(2)											69	56	61					12																	109689927		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5867A>T	12.37:g.109689927A>T	ENSP00000341044:p.His1956Leu		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.672888	0.88445	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000396233	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	4.84	4.84	0.62591	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.045951	0.85682	D	0.000000	D	0.98454	0.9485	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98917	1.0782	10	0.46703	T	0.11	.	15.1445	0.72641	1.0:0.0:0.0:0.0	.	1956	O00763	ACACB_HUMAN	L	1956;1956;1886;1187;622;65	ENSP00000341044:H1956L;ENSP00000367079:H1956L;ENSP00000367085:H1886L;ENSP00000444075:H622L	ENSP00000341044:H1956L	H	+	2	0	ACACB	108174310	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.221000	0.95188	2.114000	0.64651	0.460000	0.39030	CAC		0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109689927	A	T	109689927	3	4	580	1	0	0	0	0	1	0	0	0	107	159	6	5	6029	5	ACACB	12	109689927	Missense_Mutation	SNP	A	TCGA-CZ-4866-01A-01D-1501-10	23306669	109689927	24161968	58	31739											
PIWIL1	9271	broad.mit.edu;ucsc.edu	37	12	130845828	130845828	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr12:130845828C>A	ENST00000245255.3	+	15	2041	c.1769C>A	c.(1768-1770)aCc>aAc	p.T590N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	590	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.T590N(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GTGGCCCGAACCTTAGGCAAA	0.488																																																1	Substitution - Missense(1)	kidney(1)											117	108	111					12																	130845828		2203	4300	6503	SO:0001583	missense	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1769C>A	12.37:g.130845828C>A	ENSP00000245255:p.Thr590Asn		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687693	0.88639	.	.	ENSG00000125207	ENST00000245255	T	0.18960	2.18	5.73	5.73	0.89815	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	T	0.23119	-1.0197	10	0.45353	T	0.12	-30.7085	18.8917	0.92407	0.0:1.0:0.0:0.0	.	590;590	Q96J94;Q96J94-2	PIWL1_HUMAN;.	N	590	ENSP00000245255:T590N	ENSP00000245255:T590N	T	+	2	0	PIWIL1	129411781	1.000000	0.71417	0.153000	0.22517	0.926000	0.56050	7.686000	0.84128	2.706000	0.92434	0.655000	0.94253	ACC		0.488	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			A	130845828	C	A	130845828	3	1	580	1	0	0	0	0	1	0	0	0	11959	507	18	4	1823	4	PIWIL1	12	130845828	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	21155901	130845828	3006067	59	31740											
LRFN5	145581	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	42360818	42360818	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr14:42360818C>T	ENST00000298119.4	+	4	2940	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	584						integral component of membrane (GO:0016021)		p.T584M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGTAGTGTAACGCTGCCCCAG	0.453										HNSCC(30;0.082)																																						2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											108	94	99					14																	42360818		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1751C>T	14.37:g.42360818C>T	ENSP00000298119:p.Thr584Met		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204457	0.22205	.	.	ENSG00000165379	ENST00000298119	T	0.47528	0.84	5.95	5.95	0.96441	.	0.278342	0.27544	N	0.018891	T	0.32346	0.0826	N	0.08118	0	0.46185	D	0.998912	B	0.19200	0.034	B	0.11329	0.006	T	0.09596	-1.0667	10	0.49607	T	0.09	.	17.875	0.88822	0.0:1.0:0.0:0.0	.	584	Q96NI6	LRFN5_HUMAN	M	584	ENSP00000298119:T584M	ENSP00000298119:T584M	T	+	2	0	LRFN5	41430568	0.000000	0.05858	0.107000	0.21349	0.670000	0.39368	0.787000	0.26858	2.821000	0.97095	0.650000	0.86243	ACG		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		T	42360818	C	T	42360818	3	4	580	1	0	0	0	0	1	0	0	0	8943	536	19	1	1757	1	LRFN5	14	42360818	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10		42360818	64988722	60	31741											
DIO3	1735	broad.mit.edu	37	14	102028537	102028537	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr14:102028537G>T	ENST00000510508.4	+	1	850	c.704G>T	c.(703-705)gGt>gTt	p.G235V	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.G209V			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	235					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)	p.G235V(1)|p.G209V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CTGCAGCAAGGTGCACCCGGC	0.647																																																2	Substitution - Missense(2)	kidney(2)											60	69	66					14																	102028537		2132	4226	6358	SO:0001583	missense	1735			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.704G>T	14.37:g.102028537G>T	ENSP00000427336:p.Gly235Val		G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161174	0.21538	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.33654	1.4;1.4	3.86	3.86	0.44501	.	0.091423	0.43416	U	0.000575	T	0.51261	0.1664	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.44787	-0.9305	10	0.15952	T	0.53	.	14.9928	0.71401	0.0:0.0:1.0:0.0	.	209	P55073	IOD3_HUMAN	V	209;235	ENSP00000352273:G209V;ENSP00000427336:G235V	ENSP00000352273:G235V	G	+	2	0	DIO3;AL049836.1	101098290	1.000000	0.71417	0.828000	0.32881	0.079000	0.17450	4.536000	0.60636	1.998000	0.58463	0.462000	0.41574	GGT		0.647	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		T	102028537	G	T	102028537	3	4	580	1	0	0	0	0	1	0	0	0	4528	1261	44	4	706	4	DIO3	14	102028537	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	59667719	102028537	5321003	61	31742											
TGM5	9333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43531237	43531237	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr15:43531237G>A	ENST00000220420.5	-	9	1130	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	TGM5_ENST00000349114.4_Missense_Mutation_p.P293S	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	375					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.P375S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACAGAGGCAGGGCCACAGCAG	0.592																																																1	Substitution - Missense(1)	kidney(1)											84	70	75					15																	43531237		2202	4299	6501	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1123C>T	15.37:g.43531237G>A	ENSP00000220420:p.Pro375Ser		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933837	0.92458	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.57107	0.42;0.42	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.86343	2.81	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80901	-0.1175	10	0.87932	D	0	-12.0091	17.0051	0.86391	0.0:0.0:1.0:0.0	.	293;375	O43548-2;O43548	.;TGM5_HUMAN	S	375;293;374	ENSP00000220420:P375S;ENSP00000220419:P293S	ENSP00000220420:P375S	P	-	1	0	TGM5	41318529	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.813000	0.99286	2.620000	0.88729	0.563000	0.77884	CCT		0.592	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		A	43531237	G	A	43531237	3	1	580	1	0	0	0	0	1	0	0	0	15838	1232	43	2	1059	2	TGM5	15	43531237	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10		43531237	59000155	62	31743											
ATP8B4	79895	broad.mit.edu;ucsc.edu	37	15	50211075	50211075	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr15:50211075C>A	ENST00000284509.6	-	19	2137	c.1996G>T	c.(1996-1998)Gcc>Tcc	p.A666S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A666S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	666						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A666S(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTAATATTGGCTAGTGATAAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											160	147	152					15																	50211075		2196	4294	6490	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1996G>T	15.37:g.50211075C>A	ENSP00000284509:p.Ala666Ser		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837938	0.91117	.	.	ENSG00000104043	ENST00000284509	D	0.93307	-3.2	5.16	5.16	0.70880	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	M	0.90425	3.115	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.97690	1.0178	10	0.62326	D	0.03	.	16.5077	0.84277	0.0:1.0:0.0:0.0	.	666	Q8TF62	AT8B4_HUMAN	S	666	ENSP00000284509:A666S	ENSP00000284509:A666S	A	-	1	0	ATP8B4	47998367	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.537000	0.60643	2.579000	0.87056	0.650000	0.86243	GCC		0.343	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		A	50211075	C	A	50211075	3	1	580	1	0	0	0	0	1	0	0	0	1197	797	28	4	1622	4	ATP8B4	15	50211075	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	6679838	50211075	52320317	63	31744											
ERCC4	2072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	14041845	14041845	+	Missense_Mutation	SNP	C	C	G	rs369736388		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr16:14041845C>G	ENST00000311895.7	+	11	2401	c.2392C>G	c.(2392-2394)Cta>Gta	p.L798V		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	798	Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.L798V(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTCCCCAGACTACGGATTCT	0.522			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	1	0.000199681	0.0008	0.0	5008	,	,		20091	0.0		0.0	False		,,,				2504	0.0					yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	1	Substitution - Missense(1)	kidney(1)						C	VAL/LEU	1,4393	2.1+/-5.4	0,1,2196	85	82	83		2392	4.2	0	16		83	0,8600		0,0,4300	no	missense	ERCC4	NM_005236.2	32	0,1,6496	GG,GC,CC		0.0,0.0228,0.0077	possibly-damaging	798/917	14041845	1,12993	2197	4300	6497	SO:0001583	missense	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2392C>G	16.37:g.14041845C>G	ENSP00000310520:p.Leu798Val		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678948	0.68042	2.28E-4	0.0	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.19105	2.17	6.16	4.2	0.49525	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.82193	2.58	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.48055	-0.9068	10	0.66056	D	0.02	-21.7266	10.2967	0.43629	0.0:0.7843:0.0:0.2157	.	798	Q92889	XPF_HUMAN	V	798;786	ENSP00000310520:L798V	ENSP00000310520:L798V	L	+	1	2	ERCC4	13949346	0.997000	0.39634	0.049000	0.19019	0.957000	0.61999	3.563000	0.53784	0.914000	0.36822	0.650000	0.86243	CTA		0.522	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		G	14041845	C	G	14041845	3	3	580	1	0	0	0	0	1	0	0	0	5217	564	20	4	2434	4	ERCC4	16	14041845	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10		14041845	76312908	64	31745											
FBRS	64319	broad.mit.edu;hgsc.bcm.edu	37	16	30679940	30679940	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr16:30679940G>A	ENST00000287468.5	+	10	837	c.574G>A	c.(574-576)Gga>Aga	p.G192R	FBRS_ENST00000356166.6_Missense_Mutation_p.G712R|FBRS_ENST00000568722.1_Missense_Mutation_p.G104R|FBRS_ENST00000395073.2_Missense_Mutation_p.G104R	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	192								p.G104R(1)|p.G192R(1)		ovary(1)	1			Colorectal(24;0.103)			CGGGGCCTTTGGAGGCCTGGG	0.672																																																2	Substitution - Missense(2)	kidney(2)											61	65	64					16																	30679940		2197	4300	6497	SO:0001583	missense	64319			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"fibrosin 1"	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.574G>A	16.37:g.30679940G>A	ENSP00000287468:p.Gly192Arg		B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37		.	.	.	.	.	.	.	.	.	.	G	31	5.102176	0.94245	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.71341	-0.56	5.05	5.05	0.67936	.	0.151100	0.41500	D	0.000863	T	0.81574	0.4851	L	0.53617	1.68	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.83599	0.0127	10	0.87932	D	0	-2.2128	17.1812	0.86855	0.0:0.0:1.0:0.0	.	192	Q9HAH7	FBRS_HUMAN	R	712;192;104	ENSP00000348489:G712R	ENSP00000287468:G192R	G	+	1	0	FBRS	30587441	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.118000	0.89577	2.348000	0.79779	0.655000	0.94253	GGA		0.672	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452		A	30679940	G	A	30679940	3	1	580	1	0	0	0	0	1	0	0	0	5709	1349	47	2	608	2	FBRS	16	30679940	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	16638095	30679940	59674813	65	31746											
GLP2R	9340	hgsc.bcm.edu	37	17	9737136	9737136	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr17:9737136C>T	ENST00000262441.5	+	2	715	c.202C>T	c.(202-204)Ctc>Ttc	p.L68F	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	68					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TACAGGATCCCTCCTTGAGGA	0.483																																																0													137	122	127					17																	9737136		2203	4300	6503	SO:0001583	missense	9340			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.202C>T	17.37:g.9737136C>T	ENSP00000262441:p.Leu68Phe		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166523	0.78339	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T;T	0.55234	0.56;0.53	5.86	5.86	0.93980	.	0.000000	0.35903	N	0.002919	T	0.61565	0.2357	L	0.36672	1.1	0.37286	D	0.90807	D	0.65815	0.995	P	0.62382	0.901	T	0.66023	-0.6026	10	0.59425	D	0.04	.	15.6865	0.77415	0.0:1.0:0.0:0.0	.	68	O95838	GLP2R_HUMAN	F	68;43;68	ENSP00000303605:L43F;ENSP00000262441:L68F	ENSP00000262441:L68F	L	+	1	0	GLP2R	9677861	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	3.839000	0.55835	2.781000	0.95711	0.650000	0.86243	CTC		0.483	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			T	9737136	C	T	9737136	3	4	580	1	0	0	0	0	1	0	0	0	6455	681	24	2	208	2	GLP2R	17	9737136	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10		9737136	71458074	66	31747											
SMCR8	140775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18219207	18219207	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr17:18219207T>A	ENST00000406438.3	+	1	584	c.104T>A	c.(103-105)tTc>tAc	p.F35Y	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	35						nucleus (GO:0005634)		p.F35Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTGCCGCTCTTCCCCTTCGCC	0.557																																																1	Substitution - Missense(1)	kidney(1)											87	89	88					17																	18219207		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.104T>A	17.37:g.18219207T>A	ENSP00000385025:p.Phe35Tyr		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876954	0.33162	.	.	ENSG00000176994	ENST00000406438	T	0.27402	1.67	6.11	5.02	0.67125	.	0.165839	0.53938	N	0.000054	T	0.19525	0.0469	N	0.17082	0.46	0.40987	D	0.984824	B	0.14012	0.009	B	0.11329	0.006	T	0.05115	-1.0905	10	0.25106	T	0.35	-20.5812	12.287	0.54797	0.1357:0.0:0.0:0.8643	.	35	Q8TEV9	SMCR8_HUMAN	Y	35	ENSP00000385025:F35Y	ENSP00000385025:F35Y	F	+	2	0	SMCR8	18159932	0.277000	0.24220	0.932000	0.37286	0.824000	0.46624	1.009000	0.29886	1.086000	0.41228	0.533000	0.62120	TTC		0.557	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		A	18219207	T	A	18219207	3	1	580	1	0	0	0	0	1	0	0	0	14798	1783	62	5	106	5	SMCR8	17	18219207	Missense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10	8482071	18219207	62976003	67	31748											
EME1	146956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48456585	48456585	+	Splice_Site	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr17:48456585G>C	ENST00000338165.4	+	6	1312	c.1230G>C	c.(1228-1230)gaG>gaC	p.E410D	EME1_ENST00000393271.2_Splice_Site_p.E423D|EME1_ENST00000511648.2_Splice_Site_p.E423D	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	410					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.E410D(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ACGCTGAAGAGGTAAGAACGT	0.502								Direct reversal of damage;Homologous recombination																																								1	Substitution - Missense(1)	kidney(1)											128	131	130					17																	48456585		2203	4300	6503	SO:0001630	splice_region_variant	146956			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"	610885	"essential meiotic endonuclease 1 homolog 1 (S. pombe)"			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1230+1G>C	17.37:g.48456585G>C			Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	CCDS11565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.72|11.72	1.723821|1.723821	0.30593|0.30593	.|.	.|.	ENSG00000154920|ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648|ENST00000510246	T;T;T|.	0.22134|.	1.97;1.97;1.97|.	5.47|5.47	5.47|5.47	0.80525|0.80525	ERCC4 domain (2);|.	0.667620|.	0.14916|.	N|.	0.290948|.	T|T	0.65933|0.65933	0.2739|0.2739	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	B;B|.	0.25312|.	0.047;0.123|.	B;B|.	0.30029|.	0.03;0.11|.	T|T	0.64732|0.64732	-0.6338|-0.6338	10|5	0.72032|.	D|.	0.01|.	-27.2196|-27.2196	10.7831|10.7831	0.46390|0.46390	0.0873:0.0:0.9127:0.0|0.0873:0.0:0.9127:0.0	.|.	423;410|.	Q96AY2-2;Q96AY2|.	.;EME1_HUMAN|.	D|R	410;423;423|222	ENSP00000339897:E410D;ENSP00000376952:E423D;ENSP00000421700:E423D|.	ENSP00000339897:E410D|.	E|G	+|+	3|1	2|0	EME1|EME1	45811584|45811584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.389000|0.389000	0.30415|0.30415	2.429000|2.429000	0.44758|0.44758	2.740000|2.740000	0.93945|0.93945	0.650000|0.650000	0.86243|0.86243	GAG|GGC		0.502	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463	Missense_Mutation	C	48456585	G	C	48456585	5	2	580	1	0	0	0	0	0	0	1	0	5090	1014	35	4	1287	4	EME1	17	48456585	Splice_Site	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	30237378	48456585	32738625	68	31749											
PTPN2	5771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	12814354	12814354	+	Splice_Site	SNP	T	T	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr18:12814354T>G	ENST00000309660.5	-	7	799	c.706A>C	c.(706-708)Atg>Ctg	p.M236L	PTPN2_ENST00000591497.1_Splice_Site_p.M207L|PTPN2_ENST00000353319.4_Splice_Site_p.M236L|PTPN2_ENST00000327283.3_Splice_Site_p.M236L|PTPN2_ENST00000591115.1_Splice_Site_p.M259L	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	236	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)	p.M236L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CCTTTTTCCATCTGCAAGAAA	0.358																																																1	Substitution - Missense(1)	kidney(1)											61	56	58					18																	12814354		2203	4300	6503	SO:0001630	splice_region_variant	5771			M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.706-1A>C	18.37:g.12814354T>G			A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228049	0.39399	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	T;T;T	0.80566	-1.39;-1.39;-1.39	5.86	3.43	0.39272	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.176621	0.39687	N	0.001281	T	0.61602	0.2360	N	0.10645	0.015	0.51012	D	0.999909	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.12156	0.004;0.002;0.007;0.005;0.003	T	0.53308	-0.8457	10	0.51188	T	0.08	.	8.6005	0.33742	0.0:0.0668:0.1305:0.8027	.	236;236;213;236;236	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	L	236;236;213;236	ENSP00000320298:M236L;ENSP00000320546:M236L;ENSP00000311857:M236L	ENSP00000311857:M236L	M	-	1	0	PTPN2	12804354	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.829000	0.55760	0.459000	0.27016	-0.376000	0.06991	ATG		0.358	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423	Missense_Mutation	G	12814354	T	G	12814354	5	3	580	1	0	0	0	0	0	0	1	0	12791	1449	50	5	579	5	PTPN2	18	12814354	Splice_Site	SNP	T	TCGA-CZ-4866-01A-01D-1501-10		12814354	65262894	69	31750											
MBD1	4152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	47803544	47803544	+	Silent	SNP	A	A	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr18:47803544A>C	ENST00000591416.1	-	3	572	c.141T>G	c.(139-141)gtT>gtG	p.V47V	MBD1_ENST00000588937.1_Silent_p.V47V|MBD1_ENST00000590208.1_Silent_p.V47V|MBD1_ENST00000585672.1_Silent_p.V47V|MBD1_ENST00000591535.1_Silent_p.V47V|MBD1_ENST00000587605.1_Silent_p.V47V|MBD1_ENST00000269471.5_Silent_p.V47V|MBD1_ENST00000457839.2_Silent_p.V47V|MBD1_ENST00000349085.2_Silent_p.V47V|MBD1_ENST00000269468.5_Silent_p.V47V|MBD1_ENST00000339998.6_Silent_p.V47V|MBD1_ENST00000353909.3_Silent_p.V47V|MBD1_ENST00000585595.1_Silent_p.V47V|MBD1_ENST00000347968.3_Silent_p.V47V|MBD1_ENST00000398488.1_Silent_p.V47V|MBD1_ENST00000398495.2_Silent_p.V47V|MBD1_ENST00000382948.5_Silent_p.V47V|MBD1_ENST00000424334.2_Silent_p.V73V|MBD1_ENST00000436910.1_Silent_p.V47V|MBD1_ENST00000398493.1_Silent_p.V47V			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	47	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V47V(4)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GAGTCAGCTCAACTTTGCTTC	0.527																																																4	Substitution - coding silent(4)	kidney(4)											143	122	129					18																	47803544		2203	4300	6503	SO:0001819	synonymous_variant	4152			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.141T>G	18.37:g.47803544A>C			A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	CCDS11943.1																																																																																				0.527	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		C	47803544	A	C	47803544	2	2	580	1	0	0	0	0	0	0	0	1	9344	117	5	5		5	MBD1	18	47803544	Silent	SNP	A	TCGA-CZ-4866-01A-01D-1501-10	34989190	47803544	30273704	70	31751											
ZNF607	84775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38190296	38190296	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:38190296T>A	ENST00000355202.4	-	5	1331	c.736A>T	c.(736-738)Att>Ttt	p.I246F	ZNF607_ENST00000395835.3_Missense_Mutation_p.I245F|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I246F(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCAGTGTGAATACTCTGATGT	0.413																																																1	Substitution - Missense(1)	kidney(1)											57	58	58					19																	38190296		2203	4300	6503	SO:0001583	missense	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.736A>T	19.37:g.38190296T>A	ENSP00000347338:p.Ile246Phe		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787340	0.70337	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.18338	2.22;2.22	2.1	0.956	0.19608	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29524	0.0736	L	0.53249	1.67	0.25483	N	0.987712	D;D	0.71674	0.966;0.998	P;D	0.66979	0.61;0.948	T	0.09840	-1.0656	9	0.87932	D	0	.	5.2488	0.15512	0.0:0.187:0.0:0.813	.	246;245	Q96SK3;F5H141	ZN607_HUMAN;.	F	246;245	ENSP00000347338:I246F;ENSP00000438015:I245F	ENSP00000347338:I246F	I	-	1	0	ZNF607	42882136	0.000000	0.05858	0.199000	0.23439	0.945000	0.59286	-0.203000	0.09438	0.071000	0.16664	0.459000	0.35465	ATT		0.413	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		A	38190296	T	A	38190296	3	1	580	1	0	0	0	0	1	0	0	0	18038	1406	49	5	1358	5	ZNF607	19	38190296	Missense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10		38190296	20938687	71	31752											
ATP5SL	55101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41942328	41942328	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:41942328A>G	ENST00000221943.9	-	3	270	c.265T>C	c.(265-267)Ttt>Ctt	p.F89L	ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000417807.3_Missense_Mutation_p.F95L|ATP5SL_ENST00000590641.2_Intron|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000592922.2_Intron|ATP5SL_ENST00000595425.1_Intron|ATP5SL_ENST00000589970.1_Missense_Mutation_p.F89L|ATP5SL_ENST00000301183.11_Missense_Mutation_p.F95L	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	89						mitochondrion (GO:0005739)		p.F89L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						AGGATGAAAAAGGCACCTGCG	0.557																																																1	Substitution - Missense(1)	kidney(1)											155	129	138					19																	41942328		2203	4300	6503	SO:0001583	missense	55101			AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.265T>C	19.37:g.41942328A>G	ENSP00000221943:p.Phe89Leu		B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	ENST00000221943.9	37	CCDS33032.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610943	0.46631	.	.	ENSG00000105341	ENST00000221943;ENST00000417807;ENST00000301183;ENST00000507129	T;T;T	0.80393	-1.37;-1.37;1.99	4.11	-0.506	0.11989	.	1.040490	0.07627	N	0.927933	T	0.64170	0.2574	N	0.25647	0.755	0.20196	N	0.999923	B;B;B;B	0.13594	0.002;0.001;0.008;0.008	B;B;B;B	0.09377	0.003;0.003;0.004;0.004	T	0.42120	-0.9470	10	0.18710	T	0.47	-30.9269	4.1196	0.10099	0.4451:0.3546:0.2003:0.0	.	95;89;89;95	B4DDC0;B4DMZ4;Q9NW81;F5H4W7	.;.;AT5SL_HUMAN;.	L	89;95;95;165	ENSP00000221943:F89L;ENSP00000403910:F95L;ENSP00000301183:F95L	ENSP00000221943:F89L	F	-	1	0	ATP5SL	46634168	0.239000	0.23836	0.040000	0.18447	0.320000	0.28249	-0.010000	0.12743	-0.203000	0.10251	0.455000	0.32223	TTT		0.557	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035		G	41942328	A	G	41942328	3	3	580	1	0	0	0	0	1	0	0	0	1164	72	3	3	524	3	ATP5SL	19	41942328	Missense_Mutation	SNP	A	TCGA-CZ-4866-01A-01D-1501-10	3752032	41942328	17186655	72	31753											
ZNF284	342909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44586259	44586259	+	Splice_Site	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:44586259G>A	ENST00000421176.3	+	4	451		c.e4+1		ZNF223_ENST00000591793.1_Splice_Site	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GGGAATTCAGGTAAGAACCAA	0.448																																																1	Unknown(1)	kidney(1)											101	100	100					19																	44586259		2202	4300	6502	SO:0001630	splice_region_variant	342909			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.235+1G>A	19.37:g.44586259G>A			Q86WM1	Splice_Site	SNP	ENST00000421176.3	37	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	g	11.21	1.572996	0.28092	.	.	ENSG00000186026	ENST00000421176	.	.	.	1.88	1.88	0.25563	.	.	.	.	.	.	.	.	.	.	.	0.29173	N	0.876972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2469	0.26127	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF284	49278099	0.290000	0.24343	0.022000	0.16811	0.451000	0.32288	0.699000	0.25586	1.330000	0.45394	0.462000	0.41574	.		0.448	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813	Intron	A	44586259	G	A	44586259	5	1	580	1	0	0	0	0	0	0	1	0	17826	1275	44	2	246	2	ZNF284	19	44586259	Splice_Site	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	2643931	44586259	14542724	73	31754											
GPR77	27202	broad.mit.edu	37	19	47844249	47844249	+	Missense_Mutation	SNP	C	C	T	rs144687097		TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:47844249C>T	ENST00000595464.1	+	2	411	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	C5AR2_ENST00000257267.2_Missense_Mutation_p.R65C|C5AR2_ENST00000600626.1_Missense_Mutation_p.R65C	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	65					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)	p.R65C(1)									GAAGGTGGCCCGCCGGAGGGT	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15354	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	71	73	72		193	-0.8	0	19	dbSNP_134	72	0,8596		0,0,4298	no	missense	GPR77	NM_018485.1	180	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	65/338	47844249	1,13001	2203	4298	6501	SO:0001583	missense	27202			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"GPCR / Class A : Complement component receptors"	4527	protein-coding gene	gene with protein product		609949	"G protein-coupled receptor 77"	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.193C>T	19.37:g.47844249C>T	ENSP00000472620:p.Arg65Cys		B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731504	0.48939	2.27E-4	0.0	ENSG00000134830	ENST00000257267	T	0.39592	1.07	4.22	-0.829	0.10796	GPCR, rhodopsin-like superfamily (1);	0.225303	0.38326	U	0.001731	T	0.57562	0.2062	M	0.86343	2.81	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.50101	-0.8867	10	0.87932	D	0	.	2.8803	0.05645	0.4169:0.3477:0.143:0.0924	.	65	Q9P296	C5ARL_HUMAN	C	65	ENSP00000257267:R65C	ENSP00000257267:R65C	R	+	1	0	GPR77	52536089	0.000000	0.05858	0.001000	0.08648	0.826000	0.46750	-4.049000	0.00305	-0.215000	0.10063	0.462000	0.41574	CGC		0.692	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		T	47844249	C	T	47844249	3	4	580	1	0	0	0	0	1	0	0	0	6711	652	23	1	195	1	GPR77	19	47844249	Missense_Mutation	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	3257990	47844249	11284734	74	31755											
ZNF468	90333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53345371	53345371	+	Missense_Mutation	SNP	G	G	A	rs148965254	byFrequency	TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:53345371G>A	ENST00000595646.1	-	4	296	c.176C>T	c.(175-177)tCg>tTg	p.S59L	ZNF468_ENST00000243639.4_Silent_p.V98V|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.S6L|ZNF468_ENST00000396409.4_Missense_Mutation_p.S6L			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S59L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCCTGTTGACGACAACGTCTT	0.368													-|||	5	0.000998403	0.0038	0.0	5008	,	,		21001	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	LEU/SER,LEU/SER	12,4394	16.8+/-37.8	0,12,2191	124	117	119		176,17	0	0	19	dbSNP_134	119	0,8600		0,0,4300	yes	missense,missense	ZNF468	NM_001008801.1,NM_199132.1	145,145	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	benign,benign	59/523,6/470	53345371	12,12994	2203	4300	6503	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.176C>T	19.37:g.53345371G>A	ENSP00000470381:p.Ser59Leu		A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	6.805	0.517593	0.13005	0.002724	0.0	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.06294	3.32;3.32	1.2	0.0078	0.14072	Krueppel-associated box (2);	.	.	.	.	T	0.02304	0.0071	N	0.04203	-0.255	0.09310	N	1	B	0.23128	0.08	B	0.17098	0.017	T	0.47598	-0.9105	9	0.07482	T	0.82	.	6.0589	0.19826	0.0:0.0:0.6545:0.3455	.	59	Q5VIY5	ZN468_HUMAN	L	59;6;6	ENSP00000379690:S6L;ENSP00000445669:S6L	ENSP00000243639:S59L	S	-	2	0	ZNF468	58037183	0.000000	0.05858	0.011000	0.14972	0.235000	0.25334	-0.773000	0.04689	0.001000	0.14605	0.174000	0.16983	TCG		0.368	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		A	53345371	G	A	53345371	3	1	580	1	0	0	0	0	1	0	0	0	17933	1059	37	1	1396	1	ZNF468	19	53345371	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	5501122	53345371	5783612	75	31756											
LILRB3	11025	broad.mit.edu;hgsc.bcm.edu	37	19	54721109	54721109	+	Splice_Site	SNP	C	C	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:54721109C>A	ENST00000391750.1	-	14	1886		c.e14-1		LILRA6_ENST00000391735.3_Splice_Site|LILRB3_ENST00000346401.6_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRB3_ENST00000424807.1_Splice_Site|LILRA6_ENST00000440558.2_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site|LILRB3_ENST00000469273.1_Splice_Site|LILRB3_ENST00000245620.9_Splice_Site			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGCAGCAGCCTGCAGCGGGG	0.632																																																1	Unknown(1)	kidney(1)											63	69	67					19																	54721109		2203	4298	6501	SO:0001630	splice_region_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1750-1G>T	19.37:g.54721109C>A			C9J1P3|C9JIP1|O15471|Q86U49	Splice_Site	SNP	ENST00000391750.1	37	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320989	0.23994	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1877	0.43009	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LILRB3;LILRA6	59412921	0.753000	0.28349	0.549000	0.28204	0.139000	0.21198	2.859000	0.48364	2.115000	0.64714	0.472000	0.43445	.		0.632	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	Intron	A	54721109	C	A	54721109	5	1	580	1	0	0	0	0	0	0	1	0	8794	695	24	4	150	4	LILRB3	19	54721109	Splice_Site	SNP	C	TCGA-CZ-4866-01A-01D-1501-10	1375738	54721109	4407874	76	31757											
LAIR2	3904	broad.mit.edu;ucsc.edu	37	19	55019389	55019389	+	Silent	SNP	G	G	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr19:55019389G>T	ENST00000301202.2	+	3	476	c.354G>T	c.(352-354)ctG>ctT	p.L118L	LAIR2_ENST00000351841.2_Silent_p.L118L	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	118						extracellular region (GO:0005576)		p.L118L(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TCCTGGAGCTGCTGGTGAAAG	0.577																																																1	Substitution - coding silent(1)	kidney(1)											80	84	83					19																	55019389		2203	4300	6503	SO:0001819	synonymous_variant	3904			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.354G>T	19.37:g.55019389G>T			Q6PEZ4	Silent	SNP	ENST00000301202.2	37	CCDS12897.1																																																																																				0.577	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			T	55019389	G	T	55019389	2	4	580	1	0	0	0	0	0	0	0	1	8605	1306	46	4		4	LAIR2	19	55019389	Silent	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	298280	55019389	4109594	77	31758											
ATP9A	10079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	50292728	50292728	+	Silent	SNP	A	A	T			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr20:50292728A>T	ENST00000338821.5	-	10	1083	c.819T>A	c.(817-819)gtT>gtA	p.V273V	ATP9A_ENST00000311637.5_Silent_p.V137V|ATP9A_ENST00000402822.1_Silent_p.V152V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	273					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V273V(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAGTGTAAAGAACAACACCCA	0.423																																																1	Substitution - coding silent(1)	kidney(1)											85	75	78					20																	50292728		2203	4300	6503	SO:0001819	synonymous_variant	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.819T>A	20.37:g.50292728A>T			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	CCDS33489.1																																																																																				0.423	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		T	50292728	A	T	50292728	2	4	580	1	0	0	0	0	0	0	0	1	1198	233	9	5		5	ATP9A	20	50292728	Silent	SNP	A	TCGA-CZ-4866-01A-01D-1501-10		50292728	12732792	78	31759											
PHACTR3	116154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	58318178	58318178	+	Silent	SNP	G	G	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr20:58318178G>C	ENST00000371015.1	+	2	602	c.135G>C	c.(133-135)acG>acC	p.T45T	PHACTR3_ENST00000395636.2_Silent_p.T4T|PHACTR3_ENST00000541461.1_Silent_p.T4T|PHACTR3_ENST00000355648.4_Silent_p.T4T|PHACTR3_ENST00000361300.4_Silent_p.T4T|PHACTR3_ENST00000395639.4_Silent_p.T4T|PHACTR3_ENST00000359926.3_Silent_p.T42T	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	45						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.T45T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGGACCAAACGCCCCCGGCGC	0.582																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											90	101	97					20																	58318178		2203	4300	6503	SO:0001819	synonymous_variant	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.135G>C	20.37:g.58318178G>C			B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	CCDS13480.1																																																																																				0.582	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		C	58318178	G	C	58318178	2	2	580	1	0	0	0	0	0	0	0	1	11813	1074	38	4		4	PHACTR3	20	58318178	Silent	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	8025450	58318178	4707342	79	31760											
BAGE2	85319	broad.mit.edu;hgsc.bcm.edu	37	21	11049593	11049593	+	RNA	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr21:11049593G>A	ENST00000470054.1	-	0	515							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCGGGCTGTCGCACACTGCAC	0.383																																																0													74	59	64					21																	11049593		692	1591	2283			85318			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049593G>A			A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37																																																																																					0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		A	11049593	G	A	11049593	1	1	580	0	1	0	0	0	0	0	0	0	1292	1087	38	1		1	BAGE2	21	11049593	RNA	SNP	G	TCGA-CZ-4866-01A-01D-1501-10		11049593	37080302	80	31761											
SETD4	54093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37418187	37418187	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr21:37418187G>A	ENST00000399215.1	-	5	1791	c.419C>T	c.(418-420)cCt>cTt	p.P140L	SETD4_ENST00000399205.1_Missense_Mutation_p.P116L|SETD4_ENST00000399207.1_Missense_Mutation_p.P140L|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Missense_Mutation_p.P116L|SETD4_ENST00000399201.1_Missense_Mutation_p.P116L|SETD4_ENST00000399208.2_Missense_Mutation_p.P140L|SETD4_ENST00000332131.4_Missense_Mutation_p.P140L			Q9NVD3	SETD4_HUMAN	SET domain containing 4	140	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)	p.P140L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CAAACAAACAGGGCAGGTATA	0.502																																																1	Substitution - Missense(1)	kidney(1)											81	91	88					21																	37418187		2203	4300	6503	SO:0001583	missense	54093			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.419C>T	21.37:g.37418187G>A	ENSP00000382163:p.Pro140Leu		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328780	0.81690	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207;ENST00000424303;ENST00000429161;ENST00000446166	T;T;T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	4.97	4.07	0.47477	SET domain (1);	0.100322	0.64402	D	0.000001	T	0.27798	0.0684	L	0.58810	1.83	0.80722	D	1	P;D;P;D	0.53619	0.915;0.961;0.949;0.959	P;P;P;P	0.51806	0.581;0.68;0.554;0.585	T	0.01706	-1.1291	10	0.49607	T	0.09	-29.1893	14.2306	0.65890	0.0761:0.0:0.9239:0.0	.	116;140;116;140	A8MTS1;C9JWV5;Q9NVD3-3;Q9NVD3	.;.;.;SETD4_HUMAN	L	140;116;140;116;140;116;140;140;140;116	ENSP00000382163:P140L;ENSP00000382161:P116L;ENSP00000329189:P140L;ENSP00000382156:P116L;ENSP00000382159:P140L;ENSP00000382152:P116L;ENSP00000382158:P140L;ENSP00000399998:P140L;ENSP00000396837:P140L;ENSP00000413318:P116L	ENSP00000329189:P140L	P	-	2	0	SETD4	36340057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.471000	0.83476	0.655000	0.94253	CCT		0.502	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		A	37418187	G	A	37418187	3	1	580	1	0	0	0	0	1	0	0	0	14139	1000	35	2	950	2	SETD4	21	37418187	Missense_Mutation	SNP	G	TCGA-CZ-4866-01A-01D-1501-10	26368594	37418187	10711708	81	31762											
FOXRED2	80020	broad.mit.edu;ucsc.edu	37	22	36894120	36894120	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4866-01A-01D-1501-10	TCGA-CZ-4866-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3a06421-7838-4ac2-b5d5-45d2ea651368	f3812874-ff21-40d4-b7b7-5e13b2455d07	g.chr22:36894120T>C	ENST00000397224.4	-	6	1393	c.1300A>G	c.(1300-1302)Agc>Ggc	p.S434G	FOXRED2_ENST00000366463.3_5'UTR|FOXRED2_ENST00000397223.4_Missense_Mutation_p.S434G|FOXRED2_ENST00000216187.6_Missense_Mutation_p.S434G	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	434					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)	p.S434G(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACGATGGAGCTGGTCAGCTGT	0.632																																																1	Substitution - Missense(1)	kidney(1)											78	71	74					22																	36894120		2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1300A>G	22.37:g.36894120T>C	ENSP00000380401:p.Ser434Gly		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	T	9.266	1.044537	0.19748	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.15487	2.42;2.42;2.42	5.07	1.82	0.25136	.	0.533270	0.22002	N	0.065995	T	0.14570	0.0352	L	0.52364	1.645	0.22468	N	0.999074	B	0.22800	0.075	B	0.24701	0.055	T	0.29274	-1.0017	10	0.22706	T	0.39	-5.708	8.4675	0.32964	0.0:0.2249:0.0:0.7751	.	434	Q8IWF2	FXRD2_HUMAN	G	434	ENSP00000380401:S434G;ENSP00000216187:S434G;ENSP00000380400:S434G	ENSP00000216187:S434G	S	-	1	0	FOXRED2	35224066	0.982000	0.34865	0.064000	0.19789	0.852000	0.48524	2.339000	0.43965	0.015000	0.14971	0.529000	0.55759	AGC		0.632	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		C	36894120	T	C	36894120	3	2	580	1	0	0	0	0	1	0	0	0	6036	1580	55	3	770	3	FOXRED2	22	36894120	Missense_Mutation	SNP	T	TCGA-CZ-4866-01A-01D-1501-10		36894120	14410446	82	31763											
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10394639	10394639	+	Missense_Mutation	SNP	G	G	A	rs145596547		TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:10394639G>A	ENST00000377086.1	+	28	3188	c.2986G>A	c.(2986-2988)Gtc>Atc	p.V996I	KIF1B_ENST00000377081.1_Missense_Mutation_p.V996I|KIF1B_ENST00000263934.6_Missense_Mutation_p.V950I			O60333	KIF1B_HUMAN	kinesin family member 1B	996					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.V950I(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGTGGCCATCGTCAGTGAGAA	0.512																																																1	Substitution - Missense(1)	kidney(1)						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	222	201	208		2848	5.7	1	1	dbSNP_134	208	0,8600		0,0,4300	no	missense	KIF1B	NM_015074.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	950/1771	10394639	1,13005	2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2986G>A	1.37:g.10394639G>A	ENSP00000366290:p.Val996Ile		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.643830	0.96704	2.27E-4	0.0	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.79247	-1.25;-1.25;-1.25	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.85869	0.5797	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.998;0.973	D;D;D;D;P;B	0.80764	0.994;0.963;0.99;0.99;0.771;0.415	D	0.83905	0.0292	10	0.42905	T	0.14	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	982;956;996;970;996;950	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	I	996;950;996;996	ENSP00000263934:V950I;ENSP00000366290:V996I;ENSP00000366284:V996I	ENSP00000263934:V950I	V	+	1	0	KIF1B	10317226	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	9.798000	0.99111	2.854000	0.98071	0.655000	0.94253	GTC		0.512	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			A	10394639	G	A	10394639	3	1	581	1	0	0	0	0	1	0	0	0	8286	1145	40	1	4435	1	KIF1B	1	10394639	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10		10394639	238855982	1	31764											
SPOCD1	90853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32259422	32259422	+	Silent	SNP	G	G	T			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:32259422G>T	ENST00000360482.2	-	12	2589	c.2460C>A	c.(2458-2460)gcC>gcA	p.A820A	SPOCD1_ENST00000257100.3_Silent_p.A313A|SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Silent_p.A820A	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	820					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.A820A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTTGGCTTAGGGCTTTCTGGA	0.582																																																1	Substitution - coding silent(1)	kidney(1)											176	179	178					1																	32259422		2203	4300	6503	SO:0001819	synonymous_variant	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2460C>A	1.37:g.32259422G>T			Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	0.900	-0.722601	0.03158	.	.	ENSG00000134668	ENST00000528579	.	.	.	4.95	3.07	0.35406	.	.	.	.	.	T	0.35307	0.0927	.	.	.	0.21147	N	0.999772	.	.	.	.	.	.	T	0.20505	-1.0273	4	.	.	.	-0.6593	7.9663	0.30100	0.1941:0.0:0.8059:0.0	.	.	.	.	H	194	.	.	P	-	2	0	SPOCD1	32032009	0.068000	0.21057	0.081000	0.20488	0.185000	0.23345	-0.093000	0.11111	0.764000	0.33197	0.563000	0.77884	CCC		0.582	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		T	32259422	G	T	32259422	2	4	581	1	0	0	0	0	0	0	0	1	15083	1219	43	4		4	SPOCD1	1	32259422	Silent	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	21864783	32259422	216991199	2	31765											
CSF3R	1441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36931800	36931800	+	3'UTR	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:36931800G>A	ENST00000373106.1	-	0	3216				MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000338937.5_3'UTR|CSF3R_ENST00000373104.1_Splice_Site_p.A750V|CSF3R_ENST00000373103.1_3'UTR|CSF3R_ENST00000418048.2_3'UTR|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_3'UTR|CSF3R_ENST00000331941.5_Splice_Site_p.A750V	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)						cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.A750V(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGAGGCCCAGCCTATGGAGA	0.532																																																1	Substitution - Missense(1)	kidney(1)											56	60	59					1																	36931800		2203	4300	6503	SO:0001624	3_prime_UTR_variant	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.*158C>T	1.37:g.36931800G>A				Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	0.699	-0.791358	0.02884	.	.	ENSG00000119535	ENST00000373104;ENST00000331941	T;T	0.38722	1.12;1.12	2.77	-1.87	0.07737	.	.	.	.	.	T	0.12475	0.0303	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25467	-1.0131	8	0.02654	T	1	.	0.3233	0.00306	0.2892:0.1982:0.3111:0.2015	.	750	Q99062-4	.	V	750	ENSP00000362196:A750V;ENSP00000332180:A750V	ENSP00000332180:A750V	A	-	2	0	CSF3R	36704387	0.103000	0.21917	0.000000	0.03702	0.561000	0.35649	1.459000	0.35234	-0.454000	0.07066	-0.999000	0.02512	GCT		0.532	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		A	36931800	G	A	36931800	1	1	581	0	1	0	0	0	0	0	0	0	3939	985	34	2		2	CSF3R	1	36931800	3'UTR	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	4672378	36931800	212318821	3	31766											
SF3A3	10946	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	38455225	38455226	+	Nonsense_Mutation	DNP	GC	GC	AT			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:38455225_38455226GC>AT	ENST00000373019.4	-	2	1093_1094	c.138_139GC>AT	c.(136-141)atGCaa>atATaa	p.46_47MQ>I*	SF3A3_ENST00000448721.2_Nonsense_Mutation_p.46_47MQ>I*|SF3A3_ENST00000489537.1_5'UTR|RNU6-510P_ENST00000391239.1_RNA	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	46					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M46I(1)|p.Q47*(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCACATCTTGCATGGCCCGAG	0.55																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	kidney(2)																																								SO:0001587	stop_gained	10946			U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.138_139delinsAT	1.37:g.38455225_38455226delinsAT	ENSP00000362110:p.M46_Q47delinsI*		D3DPT5|Q15460|Q5VT87	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000373019.4	37	CCDS428.1																																																																																				0.55	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		AT	38455226	GC	AT	38455225	4	1	581	1	0	0	0	0	0	1	0	0	14154	1328	46	2	1430	2	SF3A3	1	38455225	Nonsense_Mutation	DNP	GC	TCGA-CZ-5451-01A-01D-1501-10	1523425	38455225	210795396	4	31767											
CDKN2C	1031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	51436156	51436156	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:51436156G>C	ENST00000262662.1	+	3	2150	c.116G>C	c.(115-117)aGg>aCg	p.R39T	CDKN2C_ENST00000396148.1_Missense_Mutation_p.R39T|CDKN2C_ENST00000371761.3_Missense_Mutation_p.R39T			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	39					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.R39T(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GGATTTGGAAGGACTGCGCTG	0.463			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)		Rec	yes		1	1p32	1031	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"		"O, L"	12	Whole gene deletion(11)|Substitution - Missense(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(4)|thyroid(1)|kidney(1)											100	103	102					1																	51436156		2203	4300	6503	SO:0001583	missense	1031			BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.116G>C	1.37:g.51436156G>C	ENSP00000262662:p.Arg39Thr		Q8TB83	Missense_Mutation	SNP	ENST00000262662.1	37	CCDS555.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817527	0.70912	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.63913	-0.07;-0.07;-0.07	5.23	5.23	0.72850	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.78285	2.405	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.75491	-0.3299	10	0.25106	T	0.35	-6.2891	18.9896	0.92786	0.0:0.0:1.0:0.0	.	39	P42773	CDN2C_HUMAN	T	39	ENSP00000262662:R39T;ENSP00000379452:R39T;ENSP00000360826:R39T	ENSP00000262662:R39T	R	+	2	0	CDKN2C	51208744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.540000	0.73861	2.714000	0.92807	0.655000	0.94253	AGG		0.463	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		C	51436156	G	C	51436156	3	2	581	1	0	0	0	0	1	0	0	0	3167	1000	35	4	118	4	CDKN2C	1	51436156	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	12980931	51436156	197814465	5	31768											
EPS15	2060	hgsc.bcm.edu	37	1	51869130	51869130	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:51869130delT	ENST00000371733.3	-	17	1848	c.1752delA	c.(1750-1752)aaafs	p.K584fs	EPS15_ENST00000396122.4_Frame_Shift_Del_p.K261fs|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Frame_Shift_Del_p.K450fs	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	584					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CAGAACAAACTTTTTCAGTAA	0.373			T	MLL	ALL																																		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											112	110	111					1																	51869130		2203	4300	6503	SO:0001589	frameshift_variant	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1752delA	1.37:g.51869130delT	ENSP00000360798:p.Lys584fs		B2R8J7|D3DPJ2|Q5SRH4	Frame_Shift_Del	DEL	ENST00000371733.3	37	CCDS557.1																																																																																				0.373	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		-	51869130	T	-	51869130	7	5	581	1	0	1	0	1	0	0	0	0	5194	1606	56	0	974	0	EPS15	1	51869130	Frame_Shift_Del	DEL	T	TCGA-CZ-5451-01A-01D-1501-10	432974	51869130	197381491	6	31769											
FAM151A	338094	broad.mit.edu;ucsc.edu	37	1	55077410	55077410	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:55077410A>C	ENST00000302250.2	-	6	969	c.809T>G	c.(808-810)cTg>cGg	p.L270R	FAM151A_ENST00000371304.2_Missense_Mutation_p.L270R|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	270						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L270R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCACAGCGTCAGGCTGTACCT	0.602																																																1	Substitution - Missense(1)	kidney(1)											83	77	79					1																	55077410		2203	4300	6503	SO:0001583	missense	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.809T>G	1.37:g.55077410A>C	ENSP00000306888:p.Leu270Arg		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	CCDS594.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272835	0.80580	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.24350	1.86;1.86	4.59	4.59	0.56863	.	0.115003	0.36591	N	0.002512	T	0.56031	0.1958	M	0.88775	2.98	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.65520	-0.6148	10	0.87932	D	0	-16.4719	13.3708	0.60711	1.0:0.0:0.0:0.0	.	270	Q8WW52	F151A_HUMAN	R	270	ENSP00000306888:L270R;ENSP00000360353:L270R	ENSP00000294370:L270R	L	-	2	0	FAM151A	54849998	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.334000	0.79224	2.039000	0.60335	0.533000	0.62120	CTG		0.602	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		C	55077410	A	C	55077410	3	2	581	1	0	0	0	0	1	0	0	0	5460	188	7	5	960	5	FAM151A	1	55077410	Missense_Mutation	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	3208280	55077410	194173211	7	31770											
USP24	23358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	55619805	55619805	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:55619805T>G	ENST00000294383.6	-	15	1798	c.1799A>C	c.(1798-1800)gAa>gCa	p.E600A	USP24_ENST00000407756.1_Missense_Mutation_p.E456A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	600					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.E600A(1)|p.E569A(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTTAATATCTTCTATGCACTT	0.403																																																2	Substitution - Missense(2)	kidney(2)											120	116	117					1																	55619805		1899	4132	6031	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1799A>C	1.37:g.55619805T>G	ENSP00000294383:p.Glu600Ala		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379620	0.61845	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	D;T	0.84730	-1.89;4.04	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.89511	0.6736	L	0.48642	1.525	0.54753	D	0.999982	P	0.52842	0.956	D	0.65010	0.931	D	0.89728	0.3924	10	0.54805	T	0.06	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	456	B7WPF4	.	A	600;456	ENSP00000294383:E600A;ENSP00000385700:E456A	ENSP00000294383:E600A	E	-	2	0	USP24	55392393	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.040000	0.89188	2.289000	0.77006	0.482000	0.46254	GAA		0.403	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			G	55619805	T	G	55619805	3	3	581	1	0	0	0	0	1	0	0	0	17060	1783	62	5	6279	5	USP24	1	55619805	Missense_Mutation	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	542395	55619805	193630816	8	31771											
PDE4B	5142	broad.mit.edu	37	1	66827366	66827366	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:66827366C>A	ENST00000329654.4	+	10	1097	c.910C>A	c.(910-912)Ctc>Atc	p.L304I	PDE4B_ENST00000371049.3_Missense_Mutation_p.L304I|PDE4B_ENST00000371045.5_Missense_Mutation_p.L132I|PDE4B_ENST00000480109.2_Missense_Mutation_p.L71I|PDE4B_ENST00000423207.2_Missense_Mutation_p.L289I	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	304					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.L304I(1)|p.L132I(1)|p.L289I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AAAGCAGCAGCTCATGACCCA	0.408																																																3	Substitution - Missense(3)	kidney(3)											154	139	144					1																	66827366		2203	4300	6503	SO:0001583	missense	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.910C>A	1.37:g.66827366C>A	ENSP00000332116:p.Leu304Ile		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002196	0.35320	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000528771;ENST00000371045;ENST00000531025;ENST00000526197;ENST00000480109	T;T;T;T;T;T;T;T;T	0.69561	-0.4;-0.4;-0.4;-0.41;0.99;-0.12;0.99;0.99;-0.09	5.96	5.02	0.67125	.	0.206986	0.41823	D	0.000809	T	0.46034	0.1372	L	0.44542	1.39	0.50813	D	0.999892	B;B;B;B;B	0.25563	0.0;0.005;0.129;0.011;0.003	B;B;B;B;B	0.23018	0.001;0.02;0.043;0.009;0.009	T	0.38200	-0.9672	10	0.22706	T	0.39	.	17.2993	0.87177	0.0:0.8753:0.1247:0.0	.	71;289;174;294;304	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	I	304;304;304;289;85;132;85;85;71	ENSP00000332116:L304I;ENSP00000342637:L304I;ENSP00000360088:L304I;ENSP00000392947:L289I;ENSP00000431909:L85I;ENSP00000360084:L132I;ENSP00000437249:L85I;ENSP00000436104:L85I;ENSP00000432592:L71I	ENSP00000332116:L304I	L	+	1	0	PDE4B	66599954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.925000	0.63425	2.827000	0.97445	0.655000	0.94253	CTC		0.408	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		A	66827366	C	A	66827366	3	1	581	1	0	0	0	0	1	0	0	0	11642	797	28	4	1302	4	PDE4B	1	66827366	Missense_Mutation	SNP	C	TCGA-CZ-5451-01A-01D-1501-10	11207561	66827366	182423255	9	31772											
ADAR	103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154574687	154574687	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:154574687A>T	ENST00000368474.4	-	2	630	c.431T>A	c.(430-432)tTa>tAa	p.L144*	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Nonsense_Mutation_p.L187*	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	144					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L144*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CAGGAACTTTAAGATCCTTTG	0.478																																																1	Substitution - Nonsense(1)	kidney(1)											76	79	78					1																	154574687		2203	4300	6503	SO:0001587	stop_gained	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.431T>A	1.37:g.154574687A>T	ENSP00000357459:p.Leu144*		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Nonsense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394231	0.62066	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	.	.	.	4.62	4.62	0.57501	.	1.458670	0.04060	N	0.306229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7959	14.1338	0.65273	1.0:0.0:0.0:0.0	.	.	.	.	X	187;144;139	.	ENSP00000292205:L187X	L	-	2	0	ADAR	152841311	0.977000	0.34250	0.008000	0.14137	0.713000	0.41058	4.384000	0.59607	2.056000	0.61249	0.402000	0.26972	TTA		0.478	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		T	154574687	A	T	154574687	4	4	581	1	0	0	0	0	0	1	0	0	281	372	13	5	3305	5	ADAR	1	154574687	Nonsense_Mutation	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	87747321	154574687	94675934	10	31773											
PTPRC	5788	broad.mit.edu;hgsc.bcm.edu	37	1	198687258	198687258	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:198687258A>T	ENST00000367376.2	+	14	1651	c.1480A>T	c.(1480-1482)Aca>Tca	p.T494S	PTPRC_ENST00000352140.3_Missense_Mutation_p.T446S|PTPRC_ENST00000594404.1_Missense_Mutation_p.T333S|PTPRC_ENST00000348564.6_Missense_Mutation_p.T335S|PTPRC_ENST00000442510.2_Missense_Mutation_p.T496S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	494	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T494S(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGTCTCCATGACATCAGATAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											74	70	72					1																	198687258		2203	4300	6503	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1480A>T	1.37:g.198687258A>T	ENSP00000356346:p.Thr494Ser		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	A	7.245	0.602105	0.13939	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.57273	0.41	4.3	-3.72	0.04411	Fibronectin, type III (4);Immunoglobulin-like fold (1);	2.595140	0.01447	N	0.015335	T	0.46795	0.1411	M	0.67953	2.075	0.09310	N	1	B;B;B;B;B	0.29232	0.228;0.156;0.238;0.238;0.238	B;B;B;B;B	0.33960	0.138;0.173;0.124;0.124;0.124	T	0.19976	-1.0289	10	0.07813	T	0.8	.	5.5237	0.16947	0.2762:0.3258:0.398:0.0	.	430;430;335;446;494	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	S	496;430;446;446;380;494;428;333	ENSP00000193532:T446S	ENSP00000306782:T333S	T	+	1	0	PTPRC	196953881	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.746000	0.04829	-0.579000	0.05952	0.477000	0.44152	ACA		0.393	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				T	198687258	A	T	198687258	3	4	581	1	0	0	0	0	1	0	0	0	12803	275	10	5	1541	5	PTPRC	1	198687258	Missense_Mutation	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	44112571	198687258	50563363	11	31774											
RAB3GAP2	25782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	220346067	220346067	+	Silent	SNP	A	A	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr1:220346067A>G	ENST00000358951.2	-	22	2444	c.2328T>C	c.(2326-2328)gtT>gtC	p.V776V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	776					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.V776V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTGAAAGCCAAACACTCAGGA	0.358																																																1	Substitution - coding silent(1)	kidney(1)											99	90	93					1																	220346067		2203	4300	6503	SO:0001819	synonymous_variant	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2328T>C	1.37:g.220346067A>G			A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	ENST00000358951.2	37	CCDS31028.1																																																																																				0.358	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		G	220346067	A	G	220346067	2	3	581	1	0	0	0	0	0	0	0	1	12942	1	1	3		3	RAB3GAP2	1	220346067	Silent	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	21658809	220346067	28904554	12	31775											
GCKR	64838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27719812	27719812	+	5'Flank	SNP	C	C	T	rs556404401		TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr2:27719812C>T	ENST00000264703.3	-	0	0				GCKR_ENST00000264717.2_Missense_Mutation_p.P14L|GCKR_ENST00000424318.2_5'UTR	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P14L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATTGAGACCCCGGAGCCTGGC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		21486	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											121	117	119					2																	27719812		2203	4300	6503	SO:0001631	upstream_gene_variant	2646			AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"Fibronectin type III domain containing"	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787		2.37:g.27719812C>T	Exception_encountered		D6W560	Missense_Mutation	SNP	ENST00000264703.3	37	CCDS1756.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459186	0.43634	.	.	ENSG00000084734	ENST00000264717	T	0.80738	-1.41	4.44	1.51	0.23008	.	0.225856	0.26553	N	0.023731	T	0.74801	0.3764	L	0.50333	1.59	0.27157	N	0.961263	D;D	0.60160	0.987;0.987	P;P	0.48030	0.564;0.564	T	0.68172	-0.5479	10	0.87932	D	0	-4.3168	4.8152	0.13363	0.0:0.6187:0.1781:0.2032	.	14;14	A8K731;Q14397	.;GCKR_HUMAN	L	14	ENSP00000264717:P14L	ENSP00000264717:P14L	P	+	2	0	GCKR	27573316	0.000000	0.05858	0.329000	0.25429	0.681000	0.39784	-0.171000	0.09883	0.487000	0.27698	0.655000	0.94253	CCG		0.527	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823		T	27719812	C	T	27719812	1	4	581	0	1	0	0	0	0	0	0	0	6296	652	23	1		1	GCKR	2	27719812	5'Flank	SNP	C	TCGA-CZ-5451-01A-01D-1501-10		27719812	215479561	13	31776											
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32693677	32693677	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr2:32693677A>T	ENST00000421745.2	+	29	6087	c.5953A>T	c.(5953-5955)Aat>Tat	p.N1985Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1985					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.N1985Y(1)|p.N1957Y(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTTCAACTAAATTTGGCTCA	0.408																																					Pancreas(94;175 1509 16028 18060 45422)											2	Substitution - Missense(2)	kidney(2)											110	111	111					2																	32693677		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5953A>T	2.37:g.32693677A>T	ENSP00000393596:p.Asn1985Tyr		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171544	0.78452	.	.	ENSG00000115760	ENST00000421745	D	0.82619	-1.63	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.88544	0.6465	M	0.74467	2.265	0.80722	D	1	D	0.58970	0.984	P	0.55161	0.77	D	0.90075	0.4166	10	0.87932	D	0	.	15.7759	0.78214	1.0:0.0:0.0:0.0	.	1985	Q9NR09	BIRC6_HUMAN	Y	1985	ENSP00000393596:N1985Y	ENSP00000393596:N1985Y	N	+	1	0	BIRC6	32547181	1.000000	0.71417	0.975000	0.42487	0.958000	0.62258	9.296000	0.96104	2.116000	0.64780	0.524000	0.50904	AAT		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		T	32693677	A	T	32693677	3	4	581	1	0	0	0	0	1	0	0	0	1438	14	1	5	6067	5	BIRC6	2	32693677	Missense_Mutation	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	4973865	32693677	210505696	14	31777											
CYP26B1	56603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	72362015	72362015	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr2:72362015C>T	ENST00000001146.2	-	4	939	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	CYP26B1_ENST00000546307.1_Missense_Mutation_p.G171R|CYP26B1_ENST00000412253.1_Missense_Mutation_p.G55R	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	246					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.G246R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TTCTCCAGCCCCTTCTGCAGG	0.617																																																1	Substitution - Missense(1)	kidney(1)											113	93	99					2																	72362015		2203	4300	6503	SO:0001583	missense	56603				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.736G>A	2.37:g.72362015C>T	ENSP00000001146:p.Gly246Arg		B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955484	0.34471	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307;ENST00000474509	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.11	4.23	0.50019	.	0.120124	0.64402	D	0.000009	T	0.36608	0.0973	N	0.02247	-0.625	0.36688	D	0.879401	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.29549	-1.0008	10	0.18710	T	0.47	-1.7859	8.9905	0.36022	0.0:0.8291:0.0:0.1709	.	171;229;246	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	R	246;55;171;171	ENSP00000001146:G246R;ENSP00000401465:G55R;ENSP00000443304:G171R;ENSP00000430888:G171R	ENSP00000001146:G246R	G	-	1	0	CYP26B1	72215523	0.172000	0.23043	1.000000	0.80357	0.999000	0.98932	0.818000	0.27295	1.289000	0.44618	0.655000	0.94253	GGG		0.617	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		T	72362015	C	T	72362015	3	4	581	1	0	0	0	0	1	0	0	0	4158	623	22	2	814	2	CYP26B1	2	72362015	Missense_Mutation	SNP	C	TCGA-CZ-5451-01A-01D-1501-10	39668338	72362015	170837358	15	31778											
MGAT4A	11320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	99256416	99256416	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr2:99256416G>A	ENST00000264968.3	-	11	1540	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	MGAT4A_ENST00000414521.2_Missense_Mutation_p.P265S|MGAT4A_ENST00000393487.1_Missense_Mutation_p.P393S|MGAT4A_ENST00000409391.1_Missense_Mutation_p.P393S			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	393					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.P393S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						ACCTCCGCAGGTGGGTTTACA	0.398																																																1	Substitution - Missense(1)	kidney(1)											78	80	80					2																	99256416		2203	4300	6503	SO:0001583	missense	11320			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1177C>T	2.37:g.99256416G>A	ENSP00000264968:p.Pro393Ser		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952573	0.73787	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.27402	1.67;1.7;1.67;1.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.976;1.0	P;D	0.83275	0.541;0.996	T	0.58014	-0.7711	10	0.62326	D	0.03	-4.0713	18.7017	0.91623	0.0:0.0:1.0:0.0	.	265;393	E9PEN2;Q9UM21	.;MGT4A_HUMAN	S	393;265;393;393	ENSP00000377127:P393S;ENSP00000404889:P265S;ENSP00000264968:P393S;ENSP00000386841:P393S	ENSP00000264968:P393S	P	-	1	0	MGAT4A	98622848	1.000000	0.71417	0.996000	0.52242	0.736000	0.42039	6.489000	0.73641	2.660000	0.90430	0.563000	0.77884	CCT		0.398	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		A	99256416	G	A	99256416	3	1	581	1	0	0	0	0	1	0	0	0	9547	1261	44	2	529	2	MGAT4A	2	99256416	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	26894401	99256416	143942957	16	31779											
KIF5C	3800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	149851037	149851037	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr2:149851037A>G	ENST00000435030.1	+	17	2376	c.2008A>G	c.(2008-2010)Aag>Gag	p.K670E	KIF5C_ENST00000414838.2_Missense_Mutation_p.K575E|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.K438E			O60282	KIF5C_HUMAN	kinesin family member 5C	670					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K670E(1)|p.K573E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGAGCTGGCAAAGCTCCGAGC	0.507																																																2	Substitution - Missense(2)	kidney(2)											30	32	31					2																	149851037		1936	4122	6058	SO:0001583	missense	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2008A>G	2.37:g.149851037A>G	ENSP00000393379:p.Lys670Glu		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	A	15.88	2.964428	0.53507	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.80653	-1.4;-1.4;-1.4	5.35	5.35	0.76521	.	0.267324	0.35805	N	0.002962	T	0.72162	0.3426	.	.	.	0.42286	D	0.992112	B;B	0.23058	0.003;0.079	B;B	0.24006	0.012;0.05	T	0.67488	-0.5658	8	.	.	.	.	15.5051	0.75731	1.0:0.0:0.0:0.0	.	670;236	O60282;Q3LIE3	KIF5C_HUMAN;.	E	670;575;573;438	ENSP00000393379:K670E;ENSP00000410115:K575E;ENSP00000380560:K438E	.	K	+	1	0	KIF5C	149559283	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	6.092000	0.71414	2.235000	0.73313	0.533000	0.62120	AAG		0.507	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		G	149851037	A	G	149851037	3	3	581	1	0	0	0	0	1	0	0	0	8309	15	1	3	1996	3	KIF5C	2	149851037	Missense_Mutation	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	50594621	149851037	93348336	17	31780											
DCAF17	80067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	172291646	172291646	+	Silent	SNP	C	C	G	rs559441907		TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr2:172291646C>G	ENST00000375255.3	+	2	507	c.180C>G	c.(178-180)gcC>gcG	p.A60A	METTL8_ENST00000375258.4_5'Flank|DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Silent_p.A60A	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	60					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A60A(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						CACCTATAGCCTATGAGAGAG	0.353																																																1	Substitution - coding silent(1)	kidney(1)											125	117	120					2																	172291646		1828	4079	5907	SO:0001819	synonymous_variant	80067			AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"DDB1 and CUL4 associated factors"	25784	protein-coding gene	gene with protein product	"Woodhouse-Sakati syndrome"	612515	"chromosome 2 open reading frame 37"	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.180C>G	2.37:g.172291646C>G			B2RTW5|Q53TN3|Q9H908	Silent	SNP	ENST00000375255.3	37	CCDS2243.2																																																																																				0.353	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		G	172291646	C	G	172291646	2	3	581	1	0	0	0	0	0	0	0	1	4271	668	24	4		4	DCAF17	2	172291646	Silent	SNP	C	TCGA-CZ-5451-01A-01D-1501-10	22440609	172291646	70907727	18	31781											
DNAJC10	54431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	183616891	183616891	+	Silent	SNP	A	A	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr2:183616891A>G	ENST00000264065.7	+	16	1942	c.1527A>G	c.(1525-1527)acA>acG	p.T509T		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	509	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.T509T(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TAGATTGTACAGTTCATGAGG	0.338																																					Pancreas(56;860 1183 25669 35822 48585)											1	Substitution - coding silent(1)	kidney(1)											131	117	122					2																	183616891		2203	4300	6503	SO:0001819	synonymous_variant	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1527A>G	2.37:g.183616891A>G			Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	CCDS33345.1																																																																																				0.338	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		G	183616891	A	G	183616891	2	3	581	1	0	0	0	0	0	0	0	1	4631	175	7	3		3	DNAJC10	2	183616891	Silent	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	11325245	183616891	59582482	19	31782											
SRGAP3	9901	broad.mit.edu	37	3	9068661	9068661	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr3:9068661G>A	ENST00000383836.3	-	13	1985	c.1558C>T	c.(1558-1560)Ccg>Tcg	p.P520S	SRGAP3_ENST00000360413.3_Missense_Mutation_p.P496S|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	520	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.P520S(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ACTACAAGCGGTATAGCTTGT	0.433			T	RAF1	pilocytic astrocytoma																																		Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	1	Substitution - Missense(1)	kidney(1)											129	126	127					3																	9068661		2203	4300	6503	SO:0001583	missense	9901			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1558C>T	3.37:g.9068661G>A	ENSP00000373347:p.Pro520Ser		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807914	0.90623	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	D;T	0.82803	-1.65;-0.53	5.17	5.17	0.71159	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95724	0.8769	10	0.87932	D	0	.	18.2773	0.90087	0.0:0.0:1.0:0.0	.	496;520	O43295-2;O43295	.;SRGP2_HUMAN	S	520;496	ENSP00000373347:P520S;ENSP00000353587:P496S	ENSP00000353587:P496S	P	-	1	0	SRGAP3	9043661	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	9.553000	0.98118	2.413000	0.81919	0.655000	0.94253	CCG		0.433	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			A	9068661	G	A	9068661	3	1	581	1	0	0	0	0	1	0	0	0	15152	1261	44	2	1781	2	SRGAP3	3	9068661	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10		9068661	188953769	20	31783											
SCAP	22937	broad.mit.edu	37	3	47461081	47461099	+	Frame_Shift_Del	DEL	AGCCAGGGCTCCCTCACCC	AGCCAGGGCTCCCTCACCC	-			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	AGCCAGGGCTCCCTCACCC	AGCCAGGGCTCCCTCACCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr3:47461081_47461099delAGCCAGGGCTCCCTCACCC	ENST00000265565.5	-	13	2071_2089	c.1659_1677delGGGTGAGGGAGCCCTGGCT	c.(1657-1677)ttgggtgagggagccctggctfs	p.LGEGALA553fs	SCAP_ENST00000545718.1_Frame_Shift_Del_p.LGEGALA161fs|SCAP_ENST00000441517.2_Frame_Shift_Del_p.LGEGALA298fs|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	553					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGGGCATGGGAGCCAGGGCTCCCTCACCCAATGGGCTCT	0.63																																					Pancreas(149;978 1908 29304 37806 46700)											0																																										SO:0001589	frameshift_variant	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1659_1677delGGGTGAGGGAGCCCTGGCT	3.37:g.47461081_47461099delAGCCAGGGCTCCCTCACCC	ENSP00000265565:p.Leu553fs		Q8N2E0|Q8WUA1	Frame_Shift_Del	DEL	ENST00000265565.5	37	CCDS2755.2																																																																																				0.63	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		-	47461099	AGCCAGGGCTCCCTCACCC	-	47461081	7	5	581	1	0	1	0	1	0	0	0	0	13883	291	11	0	2206	0	SCAP	3	47461081	Frame_Shift_Del	DEL	AGCCAGGGCTCCCTCACCC	TCGA-CZ-5451-01A-01D-1501-10	38392420	47461081	150561349	21	31784											
DHX30	22907	broad.mit.edu;ucsc.edu	37	3	47887677	47887677	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr3:47887677T>G	ENST00000445061.1	+	11	1522	c.1115T>G	c.(1114-1116)aTc>aGc	p.I372S	DHX30_ENST00000446256.2_Missense_Mutation_p.I333S|DHX30_ENST00000348968.4_Missense_Mutation_p.I344S|DHX30_ENST00000457607.1_Missense_Mutation_p.I400S	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	372						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.I372S(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTTCATGGATCGCCCCAGAA	0.547																																																1	Substitution - Missense(1)	kidney(1)											100	111	107					3																	47887677		2203	4300	6503	SO:0001583	missense	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1115T>G	3.37:g.47887677T>G	ENSP00000405620:p.Ile372Ser		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	T	2.048	-0.418360	0.04766	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03004	4.1;4.09;4.1;4.08	5.24	2.78	0.32641	.	0.500268	0.22446	N	0.059948	T	0.02083	0.0065	N	0.16478	0.41	0.34179	D	0.670666	B;B	0.09022	0.001;0.002	B;B	0.11329	0.001;0.006	T	0.41698	-0.9494	10	0.08179	T	0.78	.	5.8107	0.18465	0.0:0.0946:0.3476:0.5579	.	372;333	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	S	333;372;344;400	ENSP00000392601:I333S;ENSP00000405620:I372S;ENSP00000343442:I344S;ENSP00000394682:I400S	ENSP00000343442:I344S	I	+	2	0	DHX30	47862681	0.997000	0.39634	0.992000	0.48379	0.051000	0.14879	0.486000	0.22340	0.288000	0.22398	-1.220000	0.01600	ATC		0.547	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		G	47887677	T	G	47887677	3	3	581	1	0	0	0	0	1	0	0	0	4506	1435	50	5	1160	5	DHX30	3	47887677	Missense_Mutation	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	426596	47887677	150134753	22	31785											
CADPS	8618	broad.mit.edu;ucsc.edu	37	3	62388785	62388786	+	Nonsense_Mutation	DNP	GA	GA	AG			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr3:62388785_62388786GA>AG	ENST00000383710.4	-	29	4201_4202	c.3852_3853TC>CT	c.(3850-3855)taTCag>taCTag	p.Q1285*	CADPS_ENST00000283269.9_Nonsense_Mutation_p.Q1246*|CADPS_ENST00000357948.3_Nonsense_Mutation_p.Q1206*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1285	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.Y1245Y(1)|p.Q1246*(1)|p.Y1284Y(1)|p.Q1285*(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTTTTCAACTGATAAATATGAA	0.371																																																4	Substitution - Nonsense(2)|Substitution - coding silent(2)	kidney(4)																																								SO:0001587	stop_gained	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3852_3853delinsAG	3.37:g.62388785_62388786delinsAG	ENSP00000373215:p.Gln1285*		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Nonsense_Mutation|Silent	SNP	ENST00000383710.4	37	CCDS46858.1																																																																																				0.371	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		AG	62388786	GA	AG	62388785	4	1	581	1	0	0	0	0	0	1	0	0	2572	1299	45	2	216	2	CADPS	3	62388785	Nonsense_Mutation	DNP	GA	TCGA-CZ-5451-01A-01D-1501-10	14501108	62388785	135633645	23	31786											
AGTR1	185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	148459496	148459496	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr3:148459496C>G	ENST00000497524.1	+	2	1065	c.674C>G	c.(673-675)gCt>gGt	p.A225G	AGTR1_ENST00000418473.2_Missense_Mutation_p.A225G|AGTR1_ENST00000475347.1_Missense_Mutation_p.A225G|AGTR1_ENST00000542281.1_Missense_Mutation_p.A225G|AGTR1_ENST00000404754.2_Missense_Mutation_p.A225G|AGTR1_ENST00000402260.1_Missense_Mutation_p.A225G|AGTR1_ENST00000349243.3_Missense_Mutation_p.A225G|AGTR1_ENST00000474935.1_Missense_Mutation_p.A225G|AGTR1_ENST00000461609.1_Missense_Mutation_p.A225G	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	225					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.A225G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CTAAAGAAGGCTTATGAAATT	0.358																																																1	Substitution - Missense(1)	kidney(1)											50	54	53					3																	148459496		2202	4298	6500	SO:0001583	missense	185			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"GPCR / Class A : Angiotensin receptors"	336	protein-coding gene	gene with protein product		106165	"angiotensin receptor 1B"	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.674C>G	3.37:g.148459496C>G	ENSP00000419422:p.Ala225Gly		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481820	0.63849	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.117221	0.56097	D	0.000023	T	0.50086	0.1595	L	0.50993	1.605	0.53688	D	0.999978	B	0.33022	0.394	B	0.42214	0.38	T	0.51779	-0.8662	10	0.54805	T	0.06	-12.328	12.6829	0.56932	0.0:0.9252:0.0:0.0748	.	225	P30556	AGTR1_HUMAN	G	225	ENSP00000419422:A225G;ENSP00000273430:A225G;ENSP00000443186:A225G;ENSP00000398832:A225G;ENSP00000385612:A225G;ENSP00000419783:A225G;ENSP00000418084:A225G;ENSP00000418851:A225G;ENSP00000385641:A225G	ENSP00000273430:A225G	A	+	2	0	AGTR1	149942186	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.156000	0.58138	2.572000	0.86782	0.655000	0.94253	GCT		0.358	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			G	148459496	C	G	148459496	3	3	581	1	0	0	0	0	1	0	0	0	401	797	28	4	676	4	AGTR1	3	148459496	Missense_Mutation	SNP	C	TCGA-CZ-5451-01A-01D-1501-10	86070711	148459496	49562934	24	31787											
SCARB2	950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77100845	77100845	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr4:77100845C>A	ENST00000264896.2	-	4	786	c.437G>T	c.(436-438)tGg>tTg	p.W146L	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	146					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)	p.W146L(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CACCTGGGACCACTCTATGAC	0.527											OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											157	147	150					4																	77100845		2203	4300	6503	SO:0001583	missense	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.437G>T	4.37:g.77100845C>A	ENSP00000264896:p.Trp146Leu	1173	B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	C	1.318	-0.600194	0.03744	.	.	ENSG00000138760	ENST00000264896	T	0.69806	-0.43	5.95	2.1	0.27182	.	0.854169	0.10924	N	0.619155	T	0.43233	0.1238	N	0.05078	-0.115	0.35547	D	0.80357	B	0.02656	0.0	B	0.06405	0.002	T	0.32268	-0.9913	10	0.10377	T	0.69	.	13.0376	0.58881	0.578:0.422:0.0:0.0	.	146	Q14108	SCRB2_HUMAN	L	146	ENSP00000264896:W146L	ENSP00000264896:W146L	W	-	2	0	SCARB2	77319869	0.044000	0.20184	0.002000	0.10522	0.113000	0.19764	0.152000	0.16302	0.059000	0.16252	0.655000	0.94253	TGG		0.527	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		A	77100845	C	A	77100845	3	1	581	1	0	0	0	0	1	0	0	0	13888	595	21	4	1035	4	SCARB2	4	77100845	Missense_Mutation	SNP	C	TCGA-CZ-5451-01A-01D-1501-10		77100845	114053431	25	31788											
RASGEF1C	255426	broad.mit.edu;ucsc.edu	37	5	179546418	179546418	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr5:179546418T>G	ENST00000393371.2	-	7	1131	c.835A>C	c.(835-837)Att>Ctt	p.I279L	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.I279L|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.I128L|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	279	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.I279L(2)		breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAACTCAATCACCTGGGCC	0.637																																																2	Substitution - Missense(2)	kidney(2)											139	107	118					5																	179546418		2203	4300	6503	SO:0001583	missense	255426			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.835A>C	5.37:g.179546418T>G	ENSP00000377037:p.Ile279Leu		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	T	8.929	0.962905	0.18583	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.27557	1.66;1.66;1.66	4.38	0.569	0.17340	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.276309	0.33959	N	0.004390	T	0.17066	0.0410	N	0.25332	0.735	0.44579	D	0.997549	B	0.06786	0.001	B	0.16289	0.015	T	0.08973	-1.0696	10	0.21014	T	0.42	.	7.5066	0.27549	0.0:0.2908:0.0:0.7092	.	279	Q8N431	RGF1C_HUMAN	L	279;279;128	ENSP00000354963:I279L;ENSP00000377037:I279L;ENSP00000429114:I128L	ENSP00000354963:I279L	I	-	1	0	RASGEF1C	179479024	1.000000	0.71417	0.916000	0.36221	0.070000	0.16714	4.521000	0.60532	0.179000	0.19938	-0.441000	0.05720	ATT		0.637	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		G	179546418	T	G	179546418	3	3	581	1	0	0	0	0	1	0	0	0	13077	1435	50	5	593	5	RASGEF1C	5	179546418	Missense_Mutation	SNP	T	TCGA-CZ-5451-01A-01D-1501-10		179546418	1368842	26	31789											
ZNF187	0	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28244851	28244851	+	IGR	SNP	A	A	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr6:28244851A>C								NKAPL (16115 upstream) : PGBD1 (4462 downstream)																							CAGAGATATCACCACAAAGAC	0.428																																																0													89	83	85					6																	28244851		1952	4180	6132	SO:0001628	intergenic_variant	0																															6.37:g.28244851A>C				Missense_Mutation	SNP		37																																																																																				0	0.428									C	28244851	A	C	28244851	1	2	581	0	1	0	0	0	0	0	0	0	17758	159	6	5		5	ZNF187	6	28244851	IGR	SNP	A	TCGA-CZ-5451-01A-01D-1501-10		28244851	142870216	27	31790											
PDSS2	57107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	107655484	107655484	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr6:107655484G>A	ENST00000369037.4	-	2	626	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	PDSS2_ENST00000369031.4_Missense_Mutation_p.L117F|PDSS2_ENST00000453874.2_Missense_Mutation_p.L117F	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	117					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.L117F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GAGATAAGGAGCACCACCAAG	0.483																																																1	Substitution - Missense(1)	kidney(1)											94	84	87					6																	107655484		2203	4300	6503	SO:0001583	missense	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"chromosome 6 open reading frame 210"	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.349C>T	6.37:g.107655484G>A	ENSP00000358033:p.Leu117Phe		Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554823	0.65425	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	T;T;T	0.67171	-0.25;-0.25;-0.25	5.56	2.8	0.32819	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	T	0.75961	0.3921	M	0.87180	2.865	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.77664	-0.2503	10	0.51188	T	0.08	.	9.7518	0.40481	0.3285:0.0:0.6715:0.0	.	117;117;117;117	B4DKU5;Q86YH6-2;B2RE48;Q86YH6	.;.;.;DLP1_HUMAN	F	117	ENSP00000358033:L117F;ENSP00000399691:L117F;ENSP00000358027:L117F	ENSP00000358027:L117F	L	-	1	0	PDSS2	107762177	0.926000	0.31397	0.998000	0.56505	0.851000	0.48451	1.373000	0.34272	0.843000	0.35070	0.561000	0.74099	CTC		0.483	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		A	107655484	G	A	107655484	3	1	581	1	0	0	0	0	1	0	0	0	11696	971	34	2	878	2	PDSS2	6	107655484	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	79410633	107655484	63459583	28	31791											
LAMA4	3910	broad.mit.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	112441542	112441543	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr6:112441542_112441543GA>TT	ENST00000230538.7	-	33	5005_5006	c.4608_4609TC>AA	c.(4606-4611)ggTCac>ggAAac	p.H1537N	LAMA4_ENST00000522006.1_Missense_Mutation_p.H1530N|LAMA4_ENST00000389463.4_Missense_Mutation_p.H1530N|LAMA4_ENST00000424408.2_Missense_Mutation_p.H1530N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1537	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.G1529G(1)|p.H1530N(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGTTTTTTGTGACCAACATTAA	0.421																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4608_4609delinsTT	6.37:g.112441542_112441543delinsTT	ENSP00000230538:p.His1537Asn		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation|Silent	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																				0.421	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		TT	112441543	GA	TT	112441542	3	4	581	1	0	0	0	0	1	0	0	0	8610	1290	45	4	890	4	LAMA4	6	112441542	Missense_Mutation	DNP	GA	TCGA-CZ-5451-01A-01D-1501-10	4786058	112441542	58673525	29	31792											
CENPW	387103	broad.mit.edu;ucsc.edu	37	6	126669610	126669610	+	Splice_Site	SNP	A	A	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr6:126669610A>G	ENST00000368328.4	+	3	340		c.e3-1		CENPW_ENST00000368326.1_Splice_Site|CENPW_ENST00000368325.1_Splice_Site			Q5EE01	CENPW_HUMAN	centromere protein W						CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		kidney(2)|large_intestine(1)|lung(3)	6						TCCCTCTTACAGGTAATTCTA	0.294																																																1	Unknown(1)	kidney(1)											74	74	74					6																	126669610		2202	4290	6492	SO:0001630	splice_region_variant	387103			BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"cancer-upregulated gene 2"	611264	"chromosome 6 open reading frame 173"	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.241-1A>G	6.37:g.126669610A>G			A6NIR0|A6NJC2	Splice_Site	SNP	ENST00000368328.4	37	CCDS34529.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242189	0.58995	.	.	ENSG00000203760	ENST00000368326;ENST00000368325;ENST00000368328	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8801	0.52571	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CENPW	126711303	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.055000	0.64282	2.060000	0.61445	0.482000	0.46254	.		0.294	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1		Intron	G	126669610	A	G	126669610	5	3	581	1	0	0	0	0	0	0	1	0	3246	202	7	3	249	3	CENPW	6	126669610	Splice_Site	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	14228068	126669610	44445457	30	31793											
THSD7A	221981	broad.mit.edu;ucsc.edu	37	7	11446611	11446611	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr7:11446611C>G	ENST00000423059.4	-	21	4239	c.3988G>C	c.(3988-3990)Gac>Cac	p.D1330H	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1330	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1330H(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTGGACTGGTCCATCAGGGAA	0.493										HNSCC(18;0.044)																																						1	Substitution - Missense(1)	kidney(1)											97	98	98					7																	11446611		1978	4159	6137	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3988G>C	7.37:g.11446611C>G	ENSP00000406482:p.Asp1330His			Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726752	0.69074	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.54071	0.59	6.14	6.14	0.99180	.	0.140343	0.64402	D	0.000005	T	0.33000	0.0848	N	0.02192	-0.645	0.44627	D	0.997605	B	0.02656	0.0	B	0.04013	0.001	T	0.15407	-1.0438	10	0.35671	T	0.21	.	20.8597	0.99761	0.0:1.0:0.0:0.0	.	1330	Q9UPZ6	THS7A_HUMAN	H	1330	ENSP00000406482:D1330H	ENSP00000262042:D1330H	D	-	1	0	THSD7A	11413136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.975000	0.56859	2.937000	0.99478	0.650000	0.86243	GAC		0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		G	11446611	C	G	11446611	3	3	581	1	0	0	0	0	1	0	0	0	15884	855	30	4	1017	4	THSD7A	7	11446611	Missense_Mutation	SNP	C	TCGA-CZ-5451-01A-01D-1501-10		11446611	147692052	31	31794											
SH2B2	10603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	101952119	101952119	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr7:101952119T>G	ENST00000536178.1	+	4	1028	c.983T>G	c.(982-984)aTc>aGc	p.I328S	SH2B2_ENST00000306803.8_Missense_Mutation_p.I285S			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	285					actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.I328S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GCCGAATACATCTTGGAGACC	0.602																																																1	Substitution - Missense(1)	kidney(1)											135	144	141					7																	101952119		2127	4239	6366	SO:0001583	missense	10603			AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	17381	protein-coding gene	gene with protein product	"adaptor protein with pleckstrin homology and src"	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.983T>G	7.37:g.101952119T>G	ENSP00000440273:p.Ile328Ser		A6ND74	Missense_Mutation	SNP	ENST00000536178.1	37		.	.	.	.	.	.	.	.	.	.	.	21.7	4.191965	0.78902	.	.	ENSG00000160999	ENST00000536178;ENST00000444095;ENST00000306803	T;T;T	0.34859	1.34;1.34;1.34	4.33	4.33	0.51752	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.055638	0.64402	D	0.000001	T	0.54481	0.1861	M	0.73217	2.22	0.42093	D	0.991301	D	0.53312	0.959	P	0.59487	0.858	T	0.68842	-0.5302	9	0.87932	D	0	-16.5743	13.6687	0.62412	0.0:0.0:0.0:1.0	.	285	O14492	SH2B2_HUMAN	S	328;285;285	ENSP00000440273:I328S;ENSP00000401883:I285S;ENSP00000304701:I285S	ENSP00000304701:I285S	I	+	2	0	SH2B2	101738839	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.400000	0.79949	1.819000	0.53055	0.459000	0.35465	ATC		0.602	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		G	101952119	T	G	101952119	3	3	581	1	0	0	0	0	1	0	0	0	14234	1435	50	5	997	5	SH2B2	7	101952119	Missense_Mutation	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	90505508	101952119	57186544	32	31795											
DOCK4	9732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	111379463	111379463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr7:111379463G>T	ENST00000437633.1	-	47	5340	c.5084C>A	c.(5083-5085)tCg>tAg	p.S1695*	DOCK4_ENST00000494651.2_Nonsense_Mutation_p.S578*|DOCK4_ENST00000428084.1_Nonsense_Mutation_p.S1704*	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1695	Ser-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.S1695*(1)|p.S1692*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTGGCACTCGATGGAGCAGA	0.532																																																2	Substitution - Nonsense(2)	kidney(2)											50	51	51					7																	111379463		2047	4186	6233	SO:0001587	stop_gained	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5084C>A	7.37:g.111379463G>T	ENSP00000404179:p.Ser1695*		O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	46	12.723596	0.99691	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6434	0.95767	0.0:0.0:1.0:0.0	.	.	.	.	X	1683;1704;578;1695;1692	.	ENSP00000345432:S1692X	S	-	2	0	DOCK4	111166699	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.674000	0.83992	2.880000	0.98712	0.655000	0.94253	TCG		0.532	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		T	111379463	G	T	111379463	4	4	581	1	0	0	0	0	0	1	0	0	4691	1059	37	4	840	4	DOCK4	7	111379463	Nonsense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	9427344	111379463	47759200	33	31796											
GCC1	79571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127224747	127224747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr7:127224747G>A	ENST00000321407.2	-	1	914	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	164					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.Q164*(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTAGCCAACTGAGTCTTCAGC	0.522																																																1	Substitution - Nonsense(1)	kidney(1)											108	111	110					7																	127224747		2203	4300	6503	SO:0001587	stop_gained	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.490C>T	7.37:g.127224747G>A	ENSP00000318821:p.Gln164*		Q9H6N7	Nonsense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	G	40	8.520690	0.98848	.	.	ENSG00000179562	ENST00000321407	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-26.3394	17.9692	0.89108	0.0:0.0:1.0:0.0	.	.	.	.	X	164	.	ENSP00000318821:Q164X	Q	-	1	0	GCC1	127011983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.143000	0.77348	2.844000	0.97970	0.650000	0.86243	CAG		0.522	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		A	127224747	G	A	127224747	4	1	581	1	0	0	0	0	0	1	0	0	6287	1299	45	2	1845	2	GCC1	7	127224747	Nonsense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	15845284	127224747	31913916	34	31797											
MRPS33	51650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	140710230	140710230	+	Silent	SNP	A	A	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr7:140710230A>C	ENST00000393008.3	-	2	359	c.204T>G	c.(202-204)ctT>ctG	p.L68L	MRPS33_ENST00000496958.1_Silent_p.L68L|MRPS33_ENST00000469351.1_Silent_p.L68L|MRPS33_ENST00000467334.1_Silent_p.L58L|MRPS33_ENST00000472343.1_5'Flank|MRPS33_ENST00000324787.5_Silent_p.L68L	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	68					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.L68L(1)		breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					TGTAGAGTCCAAGAAATCGGA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											133	129	130					7																	140710230		2203	4300	6503	SO:0001819	synonymous_variant	51650			AF078858	CCDS5864.1	7q34	2012-09-13			ENSG00000090263	ENSG00000090263		"Mitochondrial ribosomal proteins / small subunits"	16634	protein-coding gene	gene with protein product		611993				11279123, 10810093	Standard	NM_016071		Approved	CGI-139	uc003vwe.4	Q9Y291	OTTHUMG00000157456	ENST00000393008.3:c.204T>G	7.37:g.140710230A>C				Silent	SNP	ENST00000393008.3	37	CCDS5864.1																																																																																				0.408	MRPS33-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348878.1	NM_053035		C	140710230	A	C	140710230	2	2	581	1	0	0	0	0	0	0	0	1	9844	117	5	5		5	MRPS33	7	140710230	Silent	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	13485483	140710230	18428433	35	31798											
PREX2	80243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	69009342	69009342	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr8:69009342G>C	ENST00000288368.4	+	22	2736	c.2459G>C	c.(2458-2460)gGt>gCt	p.G820A	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	820					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.G820A(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTGGAATATGGTGTCGTGTAT	0.453																																																2	Substitution - Missense(2)	kidney(2)											186	158	168					8																	69009342		2203	4300	6503	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2459G>C	8.37:g.69009342G>C	ENSP00000288368:p.Gly820Ala		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334287	0.81801	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.66460	-0.21	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.82476	-0.0438	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	820;820;820	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	A	820	ENSP00000288368:G820A	ENSP00000288368:G820A	G	+	2	0	PREX2	69171896	1.000000	0.71417	0.300000	0.25030	0.388000	0.30384	9.823000	0.99369	2.937000	0.99478	0.650000	0.86243	GGT		0.453	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		C	69009342	G	C	69009342	3	2	581	1	0	0	0	0	1	0	0	0	12482	1261	44	4	2545	4	PREX2	8	69009342	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10		69009342	77354680	36	31799											
RNF139	83940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125498660	125498660	+	IGR	SNP	T	T	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr8:125498660T>G	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Nonsense_Mutation_p.L257*|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.L257*(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGTACATCTTAAGGATGGCA	0.393																																																1	Substitution - Nonsense(1)	kidney(1)											157	143	147					8																	125498660		2203	4300	6503	SO:0001628	intergenic_variant	11236			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498660T>G			B2R5J0|Q8TD02|Q9BY40	Nonsense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505615	0.85282	.	.	ENSG00000170881	ENST00000303545	.	.	.	5.24	5.24	0.73138	.	0.148257	0.42420	D	0.000702	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-10.4682	15.4351	0.75140	0.0:0.0:0.0:1.0	.	.	.	.	X	257	.	ENSP00000304051:L257X	L	+	2	0	RNF139	125567841	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	7.188000	0.77739	2.090000	0.63153	0.528000	0.53228	TTA		0.393	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		G	125498660	T	G	125498660	1	3	581	0	1	0	0	0	0	0	0	0	13448	1764	61	5		5	RNF139	8	125498660	IGR	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	56489318	125498660	20865362	37	31800											
KIAA1797	54914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	20990252	20990253	+	Frame_Shift_Ins	INS	-	-	G	rs181929688		TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr9:20990252_20990253insG	ENST00000380249.1	+	44	5499_5500	c.5135_5136insG	c.(5134-5139)gtaccafs	p.P1713fs	FOCAD_ENST00000605086.1_Frame_Shift_Ins_p.P1149fs|FOCAD_ENST00000338382.6_Frame_Shift_Ins_p.P1713fs	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1713						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GCTGGGCCAGTACCAAGCTTCC	0.594																																																0																																										SO:0001589	frameshift_variant	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	Exception_encountered	9.37:g.20990252_20990253insG	ENSP00000369599:p.Pro1713fs		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Frame_Shift_Ins	INS	ENST00000380249.1	37	CCDS34993.1																																																																																				0.594	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		G	20990253	-	G	20990252	7	5	581	1	0	1	1	0	0	0	0	0	8260	1638	57	0	5297	0	KIAA1797	9	20990252	Frame_Shift_Ins	INS	-	TCGA-CZ-5451-01A-01D-1501-10		20990252	120223179	38	31801											
LRRC8A	56262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131669449	131669449	+	Silent	SNP	T	T	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr9:131669449T>A	ENST00000259324.5	+	3	529	c.6T>A	c.(4-6)atT>atA	p.I2I	LRRC8A_ENST00000372599.3_Silent_p.I2I|LRRC8A_ENST00000372600.4_Silent_p.I2I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	2					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I2I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GAACCATGATTCCGGTGACAG	0.542																																																1	Substitution - coding silent(1)	kidney(1)											77	71	73					9																	131669449		2203	4300	6503	SO:0001819	synonymous_variant	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.6T>A	9.37:g.131669449T>A			Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	CCDS35155.1																																																																																				0.542	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		A	131669449	T	A	131669449	2	1	581	1	0	0	0	0	0	0	0	1	9023	1771	62	5		5	LRRC8A	9	131669449	Silent	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	110679197	131669449	9543982	39	31802											
KCNMA1	3778	broad.mit.edu	37	10	78709126	78709126	+	Splice_Site	SNP	T	T	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr10:78709126T>C	ENST00000286628.8	-	22	2484		c.e22-2		RP11-443A13.5_ENST00000598613.1_RNA|RP11-443A13.5_ENST00000608791.1_RNA|KCNMA1_ENST00000404857.1_Splice_Site|KCNMA1_ENST00000354353.5_Splice_Site|KCNMA1_ENST00000372440.1_Splice_Site|KCNMA1_ENST00000404771.3_Splice_Site|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286627.5_Splice_Site|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372443.1_Splice_Site|KCNMA1_ENST00000406533.3_Splice_Site|RP11-443A13.5_ENST00000426234.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.?(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ACTTCGAGTCTACAACAGGGA	0.502																																																2	Unknown(2)	kidney(2)											38	35	36					10																	78709126		2203	4300	6503	SO:0001630	splice_region_variant	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2485-2A>G	10.37:g.78709126T>C			F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Splice_Site	SNP	ENST00000286628.8	37		.	.	.	.	.	.	.	.	.	.	T	18.57	3.653105	0.67472	.	.	ENSG00000156113	ENST00000372421;ENST00000372440;ENST00000372403;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000434208;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8337	0.78782	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNMA1	78379132	1.000000	0.71417	0.977000	0.42913	0.686000	0.39977	7.997000	0.88414	2.206000	0.71126	0.533000	0.62120	.		0.502	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	Intron	C	78709126	T	C	78709126	5	2	581	1	0	0	0	0	0	0	1	0	8075	1536	53	3	1284	3	KCNMA1	10	78709126	Splice_Site	SNP	T	TCGA-CZ-5451-01A-01D-1501-10		78709126	56825621	40	31803											
FAM35A	54537	broad.mit.edu;hgsc.bcm.edu	37	10	88930275	88930275	+	Silent	SNP	G	G	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr10:88930275G>C	ENST00000298784.1	+	5	1788	c.1674G>C	c.(1672-1674)ctG>ctC	p.L558L	FAM35A_ENST00000298786.4_Silent_p.L558L	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	558								p.L558L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AAGACTTACTGGCATATGTGT	0.398																																					Ovarian(175;703 2004 25460 32514 43441)											1	Substitution - coding silent(1)	kidney(1)											83	78	79					10																	88930275		2203	4300	6503	SO:0001819	synonymous_variant	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1674G>C	10.37:g.88930275G>C			O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	g	8.576	0.881272	0.17467	.	.	ENSG00000122376	ENST00000342900	.	.	.	4.26	3.26	0.37387	.	.	.	.	.	T	0.57844	0.2081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54563	-0.8275	4	.	.	.	-7.3423	8.9226	0.35621	0.1923:0.0:0.8077:0.0	.	.	.	.	R	213	.	.	G	+	1	0	FAM35A	88920255	0.988000	0.35896	0.999000	0.59377	0.989000	0.77384	1.688000	0.37690	2.201000	0.70794	0.537000	0.68136	GGC		0.398	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		C	88930275	G	C	88930275	2	2	581	1	0	0	0	0	0	0	0	1	5555	1335	47	4		4	FAM35A	10	88930275	Silent	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	10221149	88930275	46604472	41	31804											
NHLRC2	374354	hgsc.bcm.edu;ucsc.edu	37	10	115636591	115636591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr10:115636591delA	ENST00000369301.3	+	3	855	c.643delA	c.(643-645)aaafs	p.K215fs		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	215										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AAAACTCTATAAAGATTCTTT	0.333																																																0													44	48	47					10																	115636591		2199	4299	6498	SO:0001589	frameshift_variant	374354			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.643delA	10.37:g.115636591delA	ENSP00000358307:p.Lys215fs		Q8N1H1|Q8N5A6	Frame_Shift_Del	DEL	ENST00000369301.3	37	CCDS7585.1																																																																																				0.333	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		-	115636591	A	-	115636591	7	5	581	1	0	1	0	1	0	0	0	0	10408	363	13	0	653	0	NHLRC2	10	115636591	Frame_Shift_Del	DEL	A	TCGA-CZ-5451-01A-01D-1501-10	26706316	115636591	19898156	42	31805											
OR52J3	119679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5068347	5068347	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr11:5068347G>A	ENST00000380370.1	+	1	592	c.592G>A	c.(592-594)Ggt>Agt	p.G198S		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G198S(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGTATCAATGGTATCTATGG	0.448																																																1	Substitution - Missense(1)	kidney(1)											270	244	253					11																	5068347		2201	4298	6499	SO:0001583	missense	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.592G>A	11.37:g.5068347G>A	ENSP00000369728:p.Gly198Ser		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	G	5.296	0.239919	0.10023	.	.	ENSG00000205495	ENST00000380370	T	0.00069	8.77	4.19	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.665861	0.12995	N	0.422112	T	0.00073	0.0002	N	0.00355	-1.605	0.09310	N	1	B	0.14438	0.01	B	0.29176	0.099	T	0.07385	-1.0775	10	0.40728	T	0.16	.	9.0504	0.36372	0.1833:0.0:0.8167:0.0	.	198	Q8NH60	O52J3_HUMAN	S	198	ENSP00000369728:G198S	ENSP00000369728:G198S	G	+	1	0	OR52J3	5024923	0.000000	0.05858	0.037000	0.18230	0.095000	0.18619	-0.016000	0.12613	0.409000	0.25649	0.655000	0.94253	GGT		0.448	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		A	5068347	G	A	5068347	3	1	581	1	0	0	0	0	1	0	0	0	11124	1348	47	2	594	2	OR52J3	11	5068347	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10		5068347	129938169	43	31806											
F2	2147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46747604	46747604	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr11:46747604A>G	ENST00000311907.5	+	7	811	c.755A>G	c.(754-756)aAc>aGc	p.N252S	F2_ENST00000530231.1_Missense_Mutation_p.N252S	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	252	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.N252S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	CAGGACTTCAACTCAGCTGTG	0.657																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)											1	Substitution - Missense(1)	kidney(1)											62	70	67					11																	46747604		2201	4299	6500	SO:0001583	missense	2147			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.755A>G	11.37:g.46747604A>G	ENSP00000308541:p.Asn252Ser		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	A	0.128	-1.117272	0.01799	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	T;T;T	0.79554	-1.28;-1.28;-1.28	5.17	-8.45	0.00946	Kringle (4);Kringle-like fold (1);	1.007920	0.07948	N	0.980396	T	0.61527	0.2354	N	0.16016	0.355	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.52638	-0.8549	10	0.87932	D	0	.	10.7827	0.46388	0.7488:0.0:0.0952:0.1561	.	252	P00734	THRB_HUMAN	S	252;252;242	ENSP00000308541:N252S;ENSP00000433907:N252S;ENSP00000387413:N242S	ENSP00000308541:N252S	N	+	2	0	F2	46704180	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.552000	0.06020	-1.433000	0.01977	-0.313000	0.08912	AAC		0.657	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			G	46747604	A	G	46747604	3	3	581	1	0	0	0	0	1	0	0	0	5344	43	2	3	781	3	F2	11	46747604	Missense_Mutation	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	41679257	46747604	88258912	44	31807											
CPSF7	79869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61183665	61183665	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr11:61183665G>T	ENST00000394888.4	-	6	1049	c.877C>A	c.(877-879)Cca>Aca	p.P293T	CPSF7_ENST00000340437.4_Missense_Mutation_p.P336T|CPSF7_ENST00000439958.3_Missense_Mutation_p.P284T|CPSF7_ENST00000448745.1_Missense_Mutation_p.P284T	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	293	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P293T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AAGAAGGCTGGATTGAGGTGA	0.567																																																1	Substitution - Missense(1)	kidney(1)											61	67	65					11																	61183665		2202	4299	6501	SO:0001583	missense	79869				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.877C>A	11.37:g.61183665G>T	ENSP00000378352:p.Pro293Thr		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503188	0.85176	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147;ENST00000539952	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.44	5.44	0.79542	.	0.124417	0.56097	D	0.000034	D	0.92770	0.7701	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.993;0.998;0.999;0.997	D	0.93243	0.6628	10	0.87932	D	0	-2.4393	18.8987	0.92433	0.0:0.0:1.0:0.0	.	284;293;336;284	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	T	336;293;284;284;59;284	ENSP00000345412:P336T;ENSP00000378352:P293T;ENSP00000397203:P284T;ENSP00000407394:P284T	ENSP00000345412:P336T	P	-	1	0	CPSF7	60940241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.225000	0.89784	2.546000	0.85860	0.650000	0.86243	CCA		0.567	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		T	61183665	G	T	61183665	3	4	581	1	0	0	0	0	1	0	0	0	3832	1174	41	4	554	4	CPSF7	11	61183665	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	14436061	61183665	73822851	45	31808											
PYGM	5837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64514199	64514199	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr11:64514199A>G	ENST00000164139.3	-	20	2859	c.2461T>C	c.(2461-2463)Tat>Cat	p.Y821H	RASGRP2_ENST00000394430.1_5'Flank|RASGRP2_ENST00000377497.3_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.Y733H|RASGRP2_ENST00000377494.1_5'Flank|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000394432.3_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|RASGRP2_ENST00000377486.3_5'Flank|RASGRP2_ENST00000377487.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	821					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.Y821H(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCGGGCATACTGGGCAATG	0.622																																																1	Substitution - Missense(1)	kidney(1)											99	97	98					11																	64514199		2201	4297	6498	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2461T>C	11.37:g.64514199A>G	ENSP00000164139:p.Tyr821His		A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583202	0.86748	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.96587	-3.95;-4.06	4.39	4.39	0.52855	.	0.000000	0.42294	D	0.000737	D	0.98836	0.9607	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98784	1.0733	10	0.87932	D	0	-12.3378	11.6045	0.51024	1.0:0.0:0.0:0.0	.	733;821	A6NDY6;P11217	.;PYGM_HUMAN	H	733;821;802	ENSP00000366650:Y733H;ENSP00000164139:Y821H	ENSP00000164139:Y821H	Y	-	1	0	PYGM	64270775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.065000	0.93941	1.858000	0.53909	0.379000	0.24179	TAT		0.622	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		G	64514199	A	G	64514199	3	3	581	1	0	0	0	0	1	0	0	0	12868	391	14	3	71	3	PYGM	11	64514199	Missense_Mutation	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	3330534	64514199	70492317	46	31809											
PDGFD	80310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103797665	103797665	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr11:103797665C>A	ENST00000393158.2	-	6	1141	c.962G>T	c.(961-963)gGg>gTg	p.G321V	PDGFD_ENST00000302251.5_Missense_Mutation_p.G315V			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	321					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.G321V(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CACGGTTTTCCCTGAATTGCA	0.458																																																2	Substitution - Missense(2)	kidney(2)											96	79	84					11																	103797665		2202	4299	6501	SO:0001583	missense	80310			AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.962G>T	11.37:g.103797665C>A	ENSP00000376865:p.Gly321Val		A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285474	0.80803	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.25749	1.78;1.78	5.88	5.88	0.94601	Platelet-derived growth factor (PDGF) (3);	0.106935	0.64402	D	0.000005	T	0.48040	0.1478	L	0.60455	1.87	0.80722	D	1	D;D	0.60575	0.98;0.988	P;P	0.61800	0.894;0.83	T	0.34875	-0.9811	10	0.66056	D	0.02	-28.3581	20.2279	0.98344	0.0:1.0:0.0:0.0	.	321;315	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	V	321;315	ENSP00000376865:G321V;ENSP00000302193:G315V	ENSP00000302193:G315V	G	-	2	0	PDGFD	103302875	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.732000	0.55021	2.778000	0.95560	0.655000	0.94253	GGG		0.458	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		A	103797665	C	A	103797665	3	1	581	1	0	0	0	0	1	0	0	0	11662	623	22	4	158	4	PDGFD	11	103797665	Missense_Mutation	SNP	C	TCGA-CZ-5451-01A-01D-1501-10	39283466	103797665	31208851	47	31810											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108201113	108201113	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr11:108201113A>T	ENST00000452508.2	+	51	7669	c.7480A>T	c.(7480-7482)Aat>Tat	p.N2494Y	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.N2494Y			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2494	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.N2494Y(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTGGCTTGAAAATTCTGGAGT	0.393			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	2	Substitution - Missense(2)	kidney(2)											149	154	152					11																	108201113		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7480A>T	11.37:g.108201113A>T	ENSP00000388058:p.Asn2494Tyr		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554809	0.86231	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83419	-1.72;-1.72	4.83	4.83	0.62350	PIK-related kinase (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90789	0.7108	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92006	0.5614	10	0.72032	D	0.01	.	13.8777	0.63662	1.0:0.0:0.0:0.0	.	2494	Q13315	ATM_HUMAN	Y	2494	ENSP00000278616:N2494Y;ENSP00000388058:N2494Y	ENSP00000278616:N2494Y	N	+	1	0	ATM	107706323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.765000	0.91724	1.915000	0.55452	0.533000	0.62120	AAT		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		T	108201113	A	T	108201113	3	4	581	1	0	0	0	0	1	0	0	0	1109	14	1	5	7674	5	ATM	11	108201113	Missense_Mutation	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	4403448	108201113	26805403	48	31811											
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108203617	108203617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr11:108203617delG	ENST00000452508.2	+	54	8106	c.7917delG	c.(7915-7917)aagfs	p.K2639fs	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Frame_Shift_Del_p.K2639fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2639					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTCAGTGGAAGACTCAGAGAA	0.348			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													75	75	75					11																	108203617		2201	4298	6499	SO:0001589	frameshift_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7917delG	11.37:g.108203617delG	ENSP00000388058:p.Lys2639fs		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	CCDS31669.1																																																																																				0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		-	108203617	G	-	108203617	7	5	581	1	0	1	0	1	0	0	0	0	1109	933	33	0	8123	0	ATM	11	108203617	Frame_Shift_Del	DEL	G	TCGA-CZ-5451-01A-01D-1501-10	2504	108203617	26802899	49	31812											
TNFRSF1A	7132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6439822	6439822	+	Silent	SNP	G	G	T			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr12:6439822G>T	ENST00000162749.2	-	7	980	c.681C>A	c.(679-681)ctC>ctA	p.L227L	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Silent_p.L184L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	227					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.L227L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CAATGAAGAGGAGGGATAAAA	0.557																																																1	Substitution - coding silent(1)	kidney(1)											68	64	66					12																	6439822		2203	4300	6503	SO:0001819	synonymous_variant	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.681C>A	12.37:g.6439822G>T			A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	CCDS8542.1																																																																																				0.557	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		T	6439822	G	T	6439822	2	4	581	1	0	0	0	0	0	0	0	1	16298	1161	41	4		4	TNFRSF1A	12	6439822	Silent	SNP	G	TCGA-CZ-5451-01A-01D-1501-10		6439822	127412073	50	31813											
OR6C68	403284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55886972	55886972	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr12:55886972G>C	ENST00000548615.1	+	1	811	c.811G>C	c.(811-813)Ggt>Cgt	p.G271R	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.G276R	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G276R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						CATTAATAAAGGTGTGTCAGT	0.358																																																1	Substitution - Missense(1)	kidney(1)											68	70	69					12																	55886972		2203	4300	6503	SO:0001583	missense	403284				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"GPCR / Class A : Olfactory receptors"	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.811G>C	12.37:g.55886972G>C	ENSP00000448811:p.Gly271Arg			Missense_Mutation	SNP	ENST00000548615.1	37	CCDS31826.2	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790745	0.70452	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.00091	8.74;8.74	5.24	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.139564	0.32120	N	0.006556	T	0.00328	0.0010	M	0.69823	2.125	0.09310	N	1	D	0.59357	0.985	D	0.69142	0.962	T	0.43360	-0.9396	10	0.56958	D	0.05	.	3.2051	0.06663	0.2768:0.0:0.5284:0.1948	.	271	A6NDL8	O6C68_HUMAN	R	276;271	ENSP00000368983:G276R;ENSP00000448811:G271R	ENSP00000368983:G276R	G	+	1	0	OR6C68	54173239	0.000000	0.05858	0.011000	0.14972	0.897000	0.52465	-0.937000	0.03942	1.373000	0.46208	0.596000	0.82720	GGT		0.358	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406677.1			C	55886972	G	C	55886972	3	2	581	1	0	0	0	0	1	0	0	0	11198	1000	35	4	828	4	OR6C68	12	55886972	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	49447150	55886972	77964923	51	31814											
OR6C4	341418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55945508	55945508	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr12:55945508C>G	ENST00000394256.2	+	1	526	c.498C>G	c.(496-498)ttC>ttG	p.F166L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F166L(1)|p.F166F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGGTAGATTTCTGTGTCTCCA	0.478																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)											132	131	132					12																	55945508		2203	4300	6503	SO:0001583	missense	341418			BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"GPCR / Class A : Olfactory receptors"	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.498C>G	12.37:g.55945508C>G	ENSP00000377799:p.Phe166Leu		A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725446	0.48833	.	.	ENSG00000179626	ENST00000394256	T	0.00018	9.07	4.98	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.00384	0.0012	M	0.84948	2.725	0.21064	N	0.999799	D	0.89917	1.0	D	0.91635	0.999	T	0.27739	-1.0065	10	0.87932	D	0	.	8.6417	0.33981	0.0:0.7619:0.0:0.2381	.	166	Q8NGE1	OR6C4_HUMAN	L	166	ENSP00000377799:F166L	ENSP00000377799:F166L	F	+	3	2	OR6C4	54231775	0.772000	0.28567	0.997000	0.53966	0.515000	0.34225	-0.069000	0.11542	0.802000	0.34089	-0.136000	0.14681	TTC		0.478	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			G	55945508	C	G	55945508	3	3	581	1	0	0	0	0	1	0	0	0	11195	912	32	4	500	4	OR6C4	12	55945508	Missense_Mutation	SNP	C	TCGA-CZ-5451-01A-01D-1501-10	58536	55945508	77906387	52	31815											
PWP1	11137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	108082496	108082496	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr12:108082496G>A	ENST00000412830.3	+	3	404	c.236G>A	c.(235-237)gGt>gAt	p.G79D	PWP1_ENST00000541166.1_Missense_Mutation_p.G17D	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	79					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G79D(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CTGGAGGATGGTGACCCAGAG	0.532																																																1	Substitution - Missense(1)	kidney(1)											140	129	133					12																	108082496		2203	4300	6503	SO:0001583	missense	11137			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"WD repeat domain containing"	17015	protein-coding gene	gene with protein product	"endonuclein"					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.236G>A	12.37:g.108082496G>A	ENSP00000387365:p.Gly79Asp		A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	13.73	2.325231	0.41197	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.70631	-0.5;-0.48	5.82	4.93	0.64822	.	0.386956	0.31772	N	0.007082	T	0.58323	0.2114	L	0.38175	1.15	0.35878	D	0.828705	B	0.02656	0.0	B	0.01281	0.0	T	0.58831	-0.7567	10	0.15066	T	0.55	.	12.4485	0.55666	0.081:0.0:0.919:0.0	.	79	Q13610	PWP1_HUMAN	D	79;17;79;79;79;17	ENSP00000387365:G79D;ENSP00000445249:G17D	ENSP00000258531:G79D	G	+	2	0	PWP1	106606626	0.993000	0.37304	0.959000	0.39883	0.949000	0.60115	2.407000	0.44565	1.448000	0.47680	0.579000	0.79373	GGT		0.532	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		A	108082496	G	A	108082496	3	1	581	1	0	0	0	0	1	0	0	0	12849	1261	44	2	246	2	PWP1	12	108082496	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	52136988	108082496	25769399	53	31816											
KNTC1	9735	hgsc.bcm.edu;ucsc.edu	37	12	123028814	123028814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr12:123028814delG	ENST00000333479.7	+	8	844	c.667delG	c.(667-669)gggfs	p.G224fs	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	224					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGTGATAATTGGGGTAATTGT	0.294																																																0													150	140	143					12																	123028814		1806	4075	5881	SO:0001589	frameshift_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.667delG	12.37:g.123028814delG	ENSP00000328236:p.Gly224fs		A7E2C4|B3KSG2	Frame_Shift_Del	DEL	ENST00000333479.7	37	CCDS45002.1																																																																																				0.294	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			-	123028814	G	-	123028814	7	5	581	1	0	1	0	1	0	0	0	0	8430	1348	47	0	693	0	KNTC1	12	123028814	Frame_Shift_Del	DEL	G	TCGA-CZ-5451-01A-01D-1501-10	14946318	123028814	10823081	54	31817											
ANKLE2	23141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133327385	133327385	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr12:133327385T>A	ENST00000357997.5	-	3	780	c.691A>T	c.(691-693)Atg>Ttg	p.M231L	ANKLE2_ENST00000337516.5_Missense_Mutation_p.M231L|ANKLE2_ENST00000539605.1_Missense_Mutation_p.M169L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	231					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.M231L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CCTTTGATCATCTTGACAGCT	0.378																																																1	Substitution - Missense(1)	kidney(1)											139	135	136					12																	133327385		1844	4085	5929	SO:0001583	missense	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.691A>T	12.37:g.133327385T>A	ENSP00000350686:p.Met231Leu		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	t	14.41	2.528323	0.44969	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T	0.29397	1.96;1.95;1.57	5.72	4.55	0.56014	Ribonuclease H1, N-terminal (1);	0.118609	0.85682	N	0.000000	T	0.23171	0.0560	L	0.35593	1.075	0.33665	D	0.610174	B;B	0.15141	0.012;0.007	B;B	0.13407	0.006;0.009	T	0.20806	-1.0264	10	0.25751	T	0.34	-27.2635	11.822	0.52245	0.1351:0.0:0.0:0.8648	.	231;231	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	L	169;231;231;1	ENSP00000446268:M169L;ENSP00000350686:M231L;ENSP00000337651:M231L	ENSP00000337651:M231L	M	-	1	0	ANKLE2	131837458	0.998000	0.40836	0.984000	0.44739	0.981000	0.71138	2.509000	0.45459	0.955000	0.37878	0.528000	0.53228	ATG		0.378	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			A	133327385	T	A	133327385	3	1	581	1	0	0	0	0	1	0	0	0	633	1435	50	5	2169	5	ANKLE2	12	133327385	Missense_Mutation	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	10298571	133327385	524510	55	31818											
PNN	5411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	39645318	39645318	+	Silent	SNP	T	T	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr14:39645318T>C	ENST00000216832.4	+	2	217	c.150T>C	c.(148-150)ccT>ccC	p.P50P	RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000556530.1_Silent_p.P50P|PNN_ENST00000553331.1_Silent_p.P50P	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	50	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.P50P(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TTTCTGGTCCTGGTGGAGGTA	0.418																																																1	Substitution - coding silent(1)	kidney(1)											120	115	116					14																	39645318		2203	4300	6503	SO:0001819	synonymous_variant	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.150T>C	14.37:g.39645318T>C			B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	37	CCDS9671.1																																																																																				0.418	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		C	39645318	T	C	39645318	2	2	581	1	0	0	0	0	0	0	0	1	12162	1567	55	3		3	PNN	14	39645318	Silent	SNP	T	TCGA-CZ-5451-01A-01D-1501-10		39645318	67704222	56	31819											
FBXO34	55030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55817639	55817639	+	Silent	SNP	T	T	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr14:55817639T>G	ENST00000313833.4	+	2	776	c.531T>G	c.(529-531)ccT>ccG	p.P177P	FBXO34_ENST00000440021.1_Silent_p.P177P	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	177								p.P177P(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GCTACCAACCTGAGCCTTTTG	0.483																																																1	Substitution - coding silent(1)	kidney(1)											98	83	88					14																	55817639		2203	4300	6503	SO:0001819	synonymous_variant	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.531T>G	14.37:g.55817639T>G			Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	CCDS32086.1																																																																																				0.483	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			G	55817639	T	G	55817639	2	3	581	1	0	0	0	0	0	0	0	1	5746	1567	55	5		5	FBXO34	14	55817639	Silent	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	16172321	55817639	51531901	57	31820											
DYNC1H1	1778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	102446833	102446833	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr14:102446833A>G	ENST00000360184.4	+	5	1071	c.907A>G	c.(907-909)Atc>Gtc	p.I303V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	303	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.I303V(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GACTCTGGATATCTTGAAACA	0.448																																																1	Substitution - Missense(1)	kidney(1)											68	69	69					14																	102446833		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.907A>G	14.37:g.102446833A>G	ENSP00000348965:p.Ile303Val		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789820	0.50102	.	.	ENSG00000197102	ENST00000360184	T	0.53423	0.62	5.24	5.24	0.73138	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	L	0.38733	1.17	0.80722	D	1	B	0.23854	0.092	B	0.24541	0.054	T	0.17837	-1.0356	10	0.08837	T	0.75	.	15.421	0.75011	1.0:0.0:0.0:0.0	.	303	Q14204	DYHC1_HUMAN	V	303	ENSP00000348965:I303V	ENSP00000348965:I303V	I	+	1	0	DYNC1H1	101516586	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.833000	0.92089	2.102000	0.63906	0.482000	0.46254	ATC		0.448	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		G	102446833	A	G	102446833	3	3	581	1	0	0	0	0	1	0	0	0	4843	449	16	3	925	3	DYNC1H1	14	102446833	Missense_Mutation	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	46629194	102446833	4902707	58	31821											
ATP8B4	79895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50168715	50168715	+	Silent	SNP	C	C	T			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr15:50168715C>T	ENST00000284509.6	-	25	2928	c.2787G>A	c.(2785-2787)gtG>gtA	p.V929V	ATP8B4_ENST00000559829.1_Silent_p.V929V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	929						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V929V(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTGGTCACTCACATCCTGTA	0.413																																																1	Substitution - coding silent(1)	kidney(1)											83	83	83					15																	50168715		2196	4295	6491	SO:0001819	synonymous_variant	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2787G>A	15.37:g.50168715C>T			Q9H727	Silent	SNP	ENST00000284509.6	37	CCDS32238.1																																																																																				0.413	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		T	50168715	C	T	50168715	2	4	581	1	0	0	0	0	0	0	0	1	1197	813	29	2		2	ATP8B4	15	50168715	Silent	SNP	C	TCGA-CZ-5451-01A-01D-1501-10		50168715	52362677	59	31822											
LASS3	204219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	101009686	101009686	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr15:101009686C>G	ENST00000394113.1	-	12	1432	c.742G>C	c.(742-744)Gct>Cct	p.A248P	CERS3_ENST00000538112.2_Missense_Mutation_p.A248P|CERS3_ENST00000284382.4_Missense_Mutation_p.A248P|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	248	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.A248P(1)									AACATCTTAGCAGACTGCAAA	0.358																																																1	Substitution - Missense(1)	kidney(1)											67	68	68					15																	101009686		2203	4300	6503	SO:0001583	missense	0				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.742G>C	15.37:g.101009686C>G	ENSP00000377672:p.Ala248Pro		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954397	0.92726	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.86164	-2.08;-2.08	5.69	5.69	0.88448	TRAM/LAG1/CLN8 homology domain (3);	0.165966	0.51477	D	0.000087	D	0.94555	0.8246	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94707	0.7888	10	0.72032	D	0.01	-14.959	18.9514	0.92642	0.0:1.0:0.0:0.0	.	248	Q8IU89	CERS3_HUMAN	P	248;259;248	ENSP00000284382:A248P;ENSP00000437640:A248P	ENSP00000284382:A248P	A	-	1	0	CERS3	98827209	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.662000	0.74426	2.840000	0.97914	0.655000	0.94253	GCT		0.358	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		G	101009686	C	G	101009686	3	3	581	1	0	0	0	0	1	0	0	0	8642	710	25	4	421	4	LASS3	15	101009686	Missense_Mutation	SNP	C	TCGA-CZ-5451-01A-01D-1501-10	50840971	101009686	1521706	60	31823											
C16orf89	146556	broad.mit.edu	37	16	5115948	5115948	+	5'UTR	SNP	C	C	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr16:5115948C>G	ENST00000315997.5	-	0	163				ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_5'UTR|C16orf89_ENST00000472572.3_5'UTR|C16orf89_ENST00000350219.4_Missense_Mutation_p.G26R|C16orf89_ENST00000422873.1_Missense_Mutation_p.G26R	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89							cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)	p.G26R(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CGCTCAGCACCCTGAGCTCTG	0.667																																																2	Substitution - Missense(2)	kidney(2)											19	23	22					16																	5115948		2068	4209	6277	SO:0001623	5_prime_UTR_variant	146556				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.-39G>C	16.37:g.5115948C>G			B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029982	0.35797	.	.	ENSG00000153446	ENST00000422873;ENST00000350219	T;T	0.37058	1.22;1.68	4.09	-8.18	0.01053	.	1.432200	0.05148	N	0.495444	T	0.20536	0.0494	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.21381	-1.0247	9	0.87932	D	0	-19.5325	0.6773	0.00869	0.3569:0.1355:0.266:0.2416	.	26	G3V0F0	.	R	26	ENSP00000390402:G26R;ENSP00000283478:G26R	ENSP00000283478:G26R	G	-	1	0	C16orf89	5055949	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.353000	0.00501	-3.119000	0.00239	0.650000	0.86243	GGT		0.667	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		G	5115948	C	G	5115948	1	3	581	0	1	0	0	0	0	0	0	0	1844	623	22	4		4	C16orf89	16	5115948	5'UTR	SNP	C	TCGA-CZ-5451-01A-01D-1501-10		5115948	85238805	61	31824											
ABCC12	94160	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	48149472	48149472	+	Missense_Mutation	SNP	G	G	A	rs146005796		TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr16:48149472G>A	ENST00000311303.3	-	13	2188	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	ABCC12_ENST00000416054.1_Silent_p.P590P|ABCC12_ENST00000448542.1_Missense_Mutation_p.R615C	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	615	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R615C(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TAGACAGCGCGGGCCAGGCTA	0.627																																																1	Substitution - Missense(1)	kidney(1)						G	CYS/ARG	0,4402		0,0,2201	64	58	60		1843	4.1	0.9	16	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	no	missense	ABCC12	NM_033226.2	180	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	615/1360	48149472	2,13000	2201	4300	6501	SO:0001583	missense	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1843C>T	16.37:g.48149472G>A	ENSP00000311030:p.Arg615Cys		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664338	0.47572	0.0	2.33E-4	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.95554	-3.74;-3.74	5.09	4.13	0.48395	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97875	1.0288	10	0.87932	D	0	.	8.1809	0.31311	0.0815:0.0:0.7637:0.1547	.	615	Q96J65	MRP9_HUMAN	C	615;615;557	ENSP00000311030:R615C;ENSP00000401855:R615C	ENSP00000311030:R615C	R	-	1	0	ABCC12	46706973	1.000000	0.71417	0.930000	0.37139	0.266000	0.26442	3.211000	0.51137	1.267000	0.44247	0.563000	0.77884	CGC		0.627	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		A	48149472	G	A	48149472	3	1	581	1	0	0	0	0	1	0	0	0	52	1116	39	1	2304	1	ABCC12	16	48149472	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	43033524	48149472	42205281	62	31825											
CNOT1	23019	hgsc.bcm.edu;ucsc.edu	37	16	58555162	58555168	+	Frame_Shift_Del	DEL	AAGGTAA	AAGGTAA	-			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	AAGGTAA	AAGGTAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr16:58555162_58555168delAAGGTAA	ENST00000317147.5	-	48	7303_7309	c.6971_6977delTTACCTT	c.(6970-6978)attaccttcfs	p.ITF2324fs	CNOT1_ENST00000245138.4_Frame_Shift_Del_p.ITF1175fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.ITF2319fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2324					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGCTCAATGAAGGTAATAAGAAGACC	0.372																																																0																																										SO:0001589	frameshift_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6971_6977delTTACCTT	16.37:g.58555162_58555168delAAGGTAA	ENSP00000320949:p.Ile2324fs		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	CCDS10799.1																																																																																				0.372	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		-	58555168	AAGGTAA	-	58555162	7	5	581	1	0	1	0	1	0	0	0	0	3619	246	9	0	161	0	CNOT1	16	58555162	Frame_Shift_Del	DEL	AAGGTAA	TCGA-CZ-5451-01A-01D-1501-10	10405690	58555162	31799591	63	31826											
MC1R	4157	broad.mit.edu;ucsc.edu	37	16	89986049	89986049	+	Missense_Mutation	SNP	T	T	C	rs374235260		TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr16:89986049T>C	ENST00000555147.1	+	1	1763	c.383T>C	c.(382-384)aTg>aCg	p.M128T	TUBB3_ENST00000554444.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA|RP11-566K11.4_ENST00000554623.1_RNA|TUBB3_ENST00000556922.1_Missense_Mutation_p.M128T|MC1R_ENST00000555427.1_Missense_Mutation_p.M128T	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	128			M -> T (in CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently). {ECO:0000269|PubMed:17434924}.		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)	p.M128T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGCAGCTCCATGCTGTCCAGC	0.652									Melanoma, Familial Clustering of																																							1	Substitution - Missense(1)	kidney(1)	GRCh37	CM074336	MC1R	M		T	THR/MET	0,4392		0,0,2196	66	75	72		383	4.8	1	16		72	1,8597	1.2+/-3.3	0,1,4298	no	missense	MC1R	NM_002386.3	81	0,1,6494	CC,CT,TT		0.0116,0.0,0.0077		128/318	89986049	1,12989	2196	4299	6495	SO:0001583	missense	10381	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.383T>C	16.37:g.89986049T>C	ENSP00000451605:p.Met128Thr		Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041246	0.75732	0.0	1.16E-4	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.18810	2.19;2.19;2.19	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.172626	0.28236	U	0.016098	T	0.22551	0.0544	L	0.49640	1.575	0.44142	D	0.996934	B	0.29162	0.235	B	0.33121	0.158	T	0.03463	-1.1034	9	.	.	.	.	13.5341	0.61638	0.0:0.0:0.0:1.0	.	128	Q01726	MSHR_HUMAN	T	128	ENSP00000451760:M128T;ENSP00000451560:M128T;ENSP00000451605:M128T	.	M	+	2	0	MC1R;RP11-566K11.2	88513550	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.956000	0.63645	1.812000	0.52913	0.374000	0.22700	ATG		0.652	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		C	89986049	T	C	89986049	3	2	581	1	0	0	0	0	1	0	0	0	9365	1464	51	3	385	3	MC1R	16	89986049	Missense_Mutation	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	31430887	89986049	368704	64	31827											
MC1R	4157	broad.mit.edu	37	16	89986131	89986131	+	Missense_Mutation	SNP	C	C	G	rs374878766		TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr16:89986131C>G	ENST00000555147.1	+	1	1845	c.465C>G	c.(463-465)atC>atG	p.I155M	TUBB3_ENST00000554444.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA|RP11-566K11.4_ENST00000554623.1_RNA|TUBB3_ENST00000556922.1_Missense_Mutation_p.I155M|MC1R_ENST00000555427.1_Missense_Mutation_p.I155M	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	155			I -> T (associated with a risk for developing melanoma; dbSNP:rs1110400). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17434924, ECO:0000269|Ref.12}.		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)	p.I155M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		ACCACAGCATCGTGACCCTGC	0.647									Melanoma, Familial Clustering of																																							1	Substitution - Missense(1)	kidney(1)											59	64	62					16																	89986131		2197	4300	6497	SO:0001583	missense	10381	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.465C>G	16.37:g.89986131C>G	ENSP00000451605:p.Ile155Met		Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695453	0.48202	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.20738	2.05;2.05;2.05	4.81	-4.36	0.03645	GPCR, rhodopsin-like superfamily (1);	0.547805	0.14789	U	0.298355	T	0.41419	0.1158	M	0.87547	2.89	0.37694	D	0.923941	D	0.64830	0.994	D	0.71870	0.975	T	0.51156	-0.8741	9	.	.	.	.	7.3114	0.26477	0.0:0.3996:0.1121:0.4883	.	155	Q01726	MSHR_HUMAN	M	155	ENSP00000451760:I155M;ENSP00000451560:I155M;ENSP00000451605:I155M	.	I	+	3	3	MC1R;RP11-566K11.2	88513632	0.627000	0.27129	0.516000	0.27786	0.256000	0.26092	-0.116000	0.10724	-0.794000	0.04468	-0.380000	0.06706	ATC		0.647	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		G	89986131	C	G	89986131	3	3	581	1	0	0	0	0	1	0	0	0	9365	874	31	4	467	4	MC1R	16	89986131	Missense_Mutation	SNP	C	TCGA-CZ-5451-01A-01D-1501-10	82	89986131	368622	65	31828											
TUSC5	286753	broad.mit.edu;ucsc.edu	37	17	1198861	1198861	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr17:1198861C>G	ENST00000333813.3	+	2	803	c.464C>G	c.(463-465)aCc>aGc	p.T155S		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	155					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)		p.T155S(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTCAGCATTACCCTCATCATC	0.612																																																1	Substitution - Missense(1)	kidney(1)											91	106	101					17																	1198861		2137	4242	6379	SO:0001583	missense	286753			AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.464C>G	17.37:g.1198861C>G	ENSP00000329548:p.Thr155Ser		A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543497	0.45280	.	.	ENSG00000184811	ENST00000333813	D	0.85861	-2.04	5.56	2.09	0.27110	.	0.580762	0.14766	U	0.299696	T	0.71804	0.3383	N	0.24115	0.695	0.28690	N	0.904656	B	0.17667	0.023	B	0.17433	0.018	T	0.63963	-0.6518	10	0.72032	D	0.01	-16.3901	3.1109	0.06357	0.0:0.48:0.2286:0.2915	.	155	Q8IXB3	TUSC5_HUMAN	S	155	ENSP00000329548:T155S	ENSP00000329548:T155S	T	+	2	0	TUSC5	1145611	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	2.028000	0.41088	0.690000	0.31570	0.609000	0.83330	ACC		0.612	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		G	1198861	C	G	1198861	3	3	581	1	0	0	0	0	1	0	0	0	16784	507	18	4	470	4	TUSC5	17	1198861	Missense_Mutation	SNP	C	TCGA-CZ-5451-01A-01D-1501-10		1198861	79996349	66	31829											
MYO1C	4641	hgsc.bcm.edu;ucsc.edu	37	17	1382903	1382903	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr17:1382903delG	ENST00000575158.1	-	8	1074	c.898delC	c.(898-900)ctcfs	p.L300fs	MYO1C_ENST00000438665.2_Frame_Shift_Del_p.L316fs|MYO1C_ENST00000361007.2_Frame_Shift_Del_p.L300fs|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000545534.2_Frame_Shift_Del_p.L311fs|MYO1C_ENST00000359786.5_Frame_Shift_Del_p.L335fs			Q12965	MYO1E_HUMAN	myosin IC	305	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGATACTTGAGCTGGTTCTCG	0.662																																																0													65	49	54					17																	1382903		2203	4300	6503	SO:0001589	frameshift_variant	4641			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.898delC	17.37:g.1382903delG	ENSP00000459174:p.Leu300fs		Q14778	Frame_Shift_Del	DEL	ENST00000575158.1	37	CCDS11003.1																																																																																				0.662	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			-	1382903	G	-	1382903	7	5	581	1	0	1	0	1	0	0	0	0	10072	971	34	0	2288	0	MYO1C	17	1382903	Frame_Shift_Del	DEL	G	TCGA-CZ-5451-01A-01D-1501-10	184042	1382903	79812307	67	31830											
SLC5A10	125206	broad.mit.edu;ucsc.edu	37	17	18874338	18874338	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr17:18874338T>C	ENST00000395645.3	+	8	671	c.653T>C	c.(652-654)aTc>aCc	p.I218T	SLC5A10_ENST00000395643.2_Missense_Mutation_p.I191T|SLC5A10_ENST00000395642.1_Missense_Mutation_p.I135T|SLC5A10_ENST00000317977.6_Missense_Mutation_p.I135T|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.I218T|SLC5A10_ENST00000417251.2_Missense_Mutation_p.I218T	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	218					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I218T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TTTGACCAGATCGGTGGTTAC	0.622																																																1	Substitution - Missense(1)	kidney(1)											76	58	64					17																	18874338		2203	4300	6503	SO:0001583	missense	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.653T>C	17.37:g.18874338T>C	ENSP00000379007:p.Ile218Thr		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210279	0.58343	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	M	0.77712	2.385	0.80722	D	1	D;D;D;D;D	0.58268	0.975;0.969;0.975;0.969;0.982	D;P;D;P;D	0.63793	0.911;0.856;0.911;0.856;0.918	D	0.94196	0.7445	10	0.59425	D	0.04	.	15.8121	0.78573	0.0:0.0:0.0:1.0	.	218;191;218;218;135	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	T	135;218;135;218;218;191	ENSP00000324346:I135T;ENSP00000379008:I218T;ENSP00000379004:I135T;ENSP00000401875:I218T;ENSP00000379007:I218T;ENSP00000379005:I191T	ENSP00000324346:I135T	I	+	2	0	SLC5A10	18815063	1.000000	0.71417	0.654000	0.29608	0.174000	0.22865	5.153000	0.64888	2.139000	0.66308	0.533000	0.62120	ATC		0.622	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		C	18874338	T	C	18874338	3	2	581	1	0	0	0	0	1	0	0	0	14668	1435	50	3	683	3	SLC5A10	17	18874338	Missense_Mutation	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	17491435	18874338	62320872	68	31831											
SLC47A2	146802	broad.mit.edu;ucsc.edu	37	17	19619790	19619790	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr17:19619790A>G	ENST00000325411.5	-	1	129	c.79T>C	c.(79-81)Ttt>Ctt	p.F27L	RP11-311F12.1_ENST00000577087.2_lincRNA|SLC47A2_ENST00000463318.1_Intron|SLC47A2_ENST00000350657.5_Missense_Mutation_p.F27L	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	27					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)	p.F27L(2)		endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TCAGTCCCAAAGCCTCTGGGA	0.642																																																2	Substitution - Missense(2)	kidney(2)											48	40	43					17																	19619790		2203	4300	6503	SO:0001583	missense	146802			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.79T>C	17.37:g.19619790A>G	ENSP00000326671:p.Phe27Leu		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862622	0.71949	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000433844	T;T;T	0.42513	1.5;1.53;0.97	3.72	3.72	0.42706	.	0.068220	0.64402	U	0.000015	T	0.24736	0.0600	N	0.08118	0	0.33489	D	0.588476	P;P;B	0.35011	0.48;0.48;0.349	B;B;B	0.38562	0.276;0.276;0.168	T	0.39313	-0.9620	10	0.51188	T	0.08	-10.1274	9.0999	0.36662	1.0:0.0:0.0:0.0	.	27;27;27	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	L	27	ENSP00000338084:F27L;ENSP00000326671:F27L;ENSP00000391848:F27L	ENSP00000326671:F27L	F	-	1	0	SLC47A2	19560382	1.000000	0.71417	0.730000	0.30809	0.752000	0.42762	3.649000	0.54417	1.476000	0.48215	0.254000	0.18369	TTT		0.642	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		G	19619790	A	G	19619790	3	3	581	1	0	0	0	0	1	0	0	0	14654	72	3	3	1797	3	SLC47A2	17	19619790	Missense_Mutation	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	745452	19619790	61575420	69	31832											
RARA	5914	broad.mit.edu;ucsc.edu	37	17	38508320	38508320	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr17:38508320A>G	ENST00000254066.5	+	5	1083	c.628A>G	c.(628-630)Acg>Gcg	p.T210A	RARA_ENST00000394086.3_Missense_Mutation_p.T226A|RARA_ENST00000394081.3_Missense_Mutation_p.T205A|RARA_ENST00000425707.3_Missense_Mutation_p.T113A|RARA_ENST00000394089.2_Missense_Mutation_p.T210A|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	210	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.T210A(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAAATACACTACGGTATGGCT	0.632			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																		Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	1	Substitution - Missense(1)	kidney(1)											26	24	25					17																	38508320		2203	4299	6502	SO:0001583	missense	5914			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.628A>G	17.37:g.38508320A>G	ENSP00000254066:p.Thr210Ala		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158043	0.38119	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000420042	T;D;T;T;T	0.92752	1.3;-3.1;1.3;1.3;1.3	4.54	4.54	0.55810	Nuclear hormone receptor, ligand-binding (2);	.	.	.	.	D	0.93674	0.7979	L	0.51422	1.61	0.80722	D	1	D;B;P	0.55172	0.97;0.012;0.707	D;B;B	0.65323	0.934;0.031;0.345	D	0.93388	0.6749	9	0.48119	T	0.1	.	12.8681	0.57951	1.0:0.0:0.0:0.0	.	113;205;210	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	A	210;113;210;226;205;97	ENSP00000254066:T210A;ENSP00000389993:T113A;ENSP00000377649:T210A;ENSP00000377648:T226A;ENSP00000377643:T205A	ENSP00000254066:T210A	T	+	1	0	RARA	35761846	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	9.262000	0.95591	1.682000	0.51000	0.383000	0.25322	ACG		0.632	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			G	38508320	A	G	38508320	3	3	581	1	0	0	0	0	1	0	0	0	13058	391	14	3	809	3	RARA	17	38508320	Missense_Mutation	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	18888530	38508320	42686890	70	31833											
WFIKKN2	124857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48916926	48916926	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr17:48916926T>A	ENST00000311378.4	+	2	805	c.277T>A	c.(277-279)Tac>Aac	p.Y93N	WFIKKN2_ENST00000426127.1_5'UTR|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	93					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y93N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCGGCCCGCTACATGGACGT	0.582																																																1	Substitution - Missense(1)	kidney(1)											50	51	51					17																	48916926		2203	4300	6503	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.277T>A	17.37:g.48916926T>A	ENSP00000311184:p.Tyr93Asn		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.670186	0.67814	.	.	ENSG00000173714	ENST00000311378	T	0.81415	-1.49	5.53	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	L	0.54323	1.7	0.54753	D	0.999989	D	0.55605	0.972	P	0.55667	0.781	T	0.83351	-0.0003	10	0.52906	T	0.07	.	10.8818	0.46944	0.0:0.0734:0.0:0.9266	.	93	Q8TEU8	WFKN2_HUMAN	N	93	ENSP00000311184:Y93N	ENSP00000311184:Y93N	Y	+	1	0	WFIKKN2	46271925	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.217000	0.58547	2.096000	0.63516	0.524000	0.50904	TAC		0.582	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		A	48916926	T	A	48916926	3	1	581	1	0	0	0	0	1	0	0	0	17364	1522	53	5	283	5	WFIKKN2	17	48916926	Missense_Mutation	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	10408606	48916926	32278284	71	31834											
HELZ	9931	broad.mit.edu;ucsc.edu	37	17	65141857	65141857	+	Splice_Site	SNP	A	A	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr17:65141857A>G	ENST00000358691.5	-	21	2936		c.e21+1		HELZ_ENST00000580168.1_Splice_Site	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger							membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GAATTAAGGTACCTCTGCATT	0.323																																																1	Unknown(1)	kidney(1)											83	83	83					17																	65141857		1815	4070	5885	SO:0001630	splice_region_variant	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2769+1T>C	17.37:g.65141857A>G			I6L9H4	Splice_Site	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521356	0.85600	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2167	0.82231	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HELZ	62572319	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	8.962000	0.93254	2.231000	0.72958	0.533000	0.62120	.		0.323	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	Intron	G	65141857	A	G	65141857	5	3	581	1	0	0	0	0	0	0	1	0	7051	405	14	3	3109	3	HELZ	17	65141857	Splice_Site	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	16224931	65141857	16053353	72	31835											
BAHCC1	57597	broad.mit.edu	37	17	79423404	79423404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr17:79423404delA	ENST00000307745.7	+	20	4651	c.4651delA	c.(4651-4653)aagfs	p.K1551fs																								GCTGAAACCCAAGGTCAAGAG	0.657																																																0													14	17	16					17																	79423404		1846	4048	5894	SO:0001589	frameshift_variant	57597																														ENST00000307745.7:c.4651delA	17.37:g.79423404delA	ENSP00000303486:p.Lys1551fs			Frame_Shift_Del	DEL	ENST00000307745.7	37																																																																																					0.657	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				-	79423404	A	-	79423404	7	5	581	1	0	1	0	1	0	0	0	0	1296	131	5	0	4544	0	BAHCC1	17	79423404	Frame_Shift_Del	DEL	A	TCGA-CZ-5451-01A-01D-1501-10	14281547	79423404	1771806	73	31836											
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	7042148	7042148	+	Silent	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr18:7042148G>A	ENST00000389658.3	-	9	1350	c.1257C>T	c.(1255-1257)caC>caT	p.H419H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	419	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.			H -> E (in Ref. 3; CAA41418). {ECO:0000305}.	axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.H419H(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACTTACCATTGTGTAAGTCAG	0.433																																																1	Substitution - coding silent(1)	kidney(1)											71	57	62					18																	7042148		2203	4300	6503	SO:0001819	synonymous_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1257C>T	18.37:g.7042148G>A				Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.433	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		A	7042148	G	A	7042148	2	1	581	1	0	0	0	0	0	0	0	1	8607	1368	48	2		2	LAMA1	18	7042148	Silent	SNP	G	TCGA-CZ-5451-01A-01D-1501-10		7042148	71035100	74	31837											
ROCK1	6093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	18546995	18546995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr18:18546995G>A	ENST00000399799.2	-	27	4175	c.3235C>T	c.(3235-3237)Cag>Tag	p.Q1079*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1079					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q1079*(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGGCCAACTGCATCTGAAGC	0.368																																																1	Substitution - Nonsense(1)	kidney(1)											171	153	159					18																	18546995		2203	4300	6503	SO:0001587	stop_gained	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3235C>T	18.37:g.18546995G>A	ENSP00000382697:p.Gln1079*		B0YJ91|Q2KHM4|Q59GZ4	Nonsense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	48	14.925336	0.99815	.	.	ENSG00000067900	ENST00000399799	.	.	.	5.61	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	15.7818	0.78267	0.0:0.0:0.8625:0.1375	.	.	.	.	X	1079	.	ENSP00000382697:Q1079X	Q	-	1	0	ROCK1	16800993	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	6.518000	0.73764	1.347000	0.45714	0.585000	0.79938	CAG		0.368	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18546995	G	A	18546995	4	1	581	1	0	0	0	0	0	1	0	0	13523	1328	46	2	857	2	ROCK1	18	18546995	Nonsense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	11504847	18546995	59530253	75	31838											
ESCO1	114799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	19119910	19119910	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr18:19119910G>A	ENST00000269214.5	-	9	2951	c.2014C>T	c.(2014-2016)Cct>Tct	p.P672S		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	672					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.P672S(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GGGTCTTCAGGAAGAACCATT	0.323																																																1	Substitution - Missense(1)	kidney(1)											89	93	92					18																	19119910		2203	4300	6503	SO:0001583	missense	114799			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2014C>T	18.37:g.19119910G>A	ENSP00000269214:p.Pro672Ser		B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483880	0.84854	.	.	ENSG00000141446	ENST00000269214	T	0.60548	0.18	5.56	5.56	0.83823	.	0.119065	0.64402	D	0.000019	T	0.74137	0.3677	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.70081	-0.4970	10	0.32370	T	0.25	-27.1186	19.5268	0.95210	0.0:0.0:1.0:0.0	.	672	Q5FWF5	ESCO1_HUMAN	S	672	ENSP00000269214:P672S	ENSP00000269214:P672S	P	-	1	0	ESCO1	17373908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.624000	0.88883	0.585000	0.79938	CCT		0.323	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		A	19119910	G	A	19119910	3	1	581	1	0	0	0	0	1	0	0	0	5250	1174	41	2	524	2	ESCO1	18	19119910	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	572915	19119910	58957338	76	31839											
ONECUT2	9480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	55143848	55143848	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr18:55143848G>A	ENST00000491143.2	+	2	1440	c.1408G>A	c.(1408-1410)Gtc>Atc	p.V470I		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	470					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.V470I(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCTCACAACCGTCAGCAACTT	0.587																																																2	Substitution - Missense(2)	kidney(1)|central_nervous_system(1)											57	64	62					18																	55143848		2109	4254	6363	SO:0001583	missense	9480			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1408G>A	18.37:g.55143848G>A	ENSP00000419185:p.Val470Ile			Missense_Mutation	SNP	ENST00000491143.2	37	CCDS42440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.007453|5.007453	0.93287|0.93287	.|.	.|.	ENSG00000119547|ENSG00000119547	ENST00000481727|ENST00000491143;ENST00000262095	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.159557	.|0.39909	.|N	.|0.001234	D|D	0.82540|0.82540	0.5059|0.5059	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	.|D	.|0.54601	.|0.967	.|D	.|0.77004	.|0.989	T|T	0.82610|0.82610	-0.0372|-0.0372	5|9	.|0.87932	.|D	.|0	-21.6632|-21.6632	20.1323|20.1323	0.98003|0.98003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|470	.|O95948	.|ONEC2_HUMAN	H|I	98|451;470	.|.	.|ENSP00000262095:V470I	R|V	+|+	2|1	0|0	ONECUT2|ONECUT2	53294846|53294846	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.995000|0.995000	0.86356|0.86356	9.476000|9.476000	0.97823|0.97823	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.587	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			A	55143848	G	A	55143848	3	1	581	1	0	0	0	0	1	0	0	0	10871	1145	40	1	1414	1	ONECUT2	18	55143848	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	36023938	55143848	22933400	77	31840											
SERPINB8	5271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61650927	61650927	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr18:61650927delC	ENST00000397985.2	+	5	795	c.539delC	c.(538-540)acafs	p.T180fs	SERPINB8_ENST00000353706.2_Frame_Shift_Del_p.T180fs|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Frame_Shift_Del_p.T180fs	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	180					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGAAAGTACACAAGGGGAATG	0.388																																																0													119	113	115					18																	61650927		2203	4300	6503	SO:0001589	frameshift_variant	5271			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.539delC	18.37:g.61650927delC	ENSP00000381072:p.Thr180fs		B4DTW2|Q7Z2V6|Q8N178	Frame_Shift_Del	DEL	ENST00000397985.2	37	CCDS11991.1																																																																																				0.388	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		-	61650927	C	-	61650927	7	5	581	1	0	1	0	1	0	0	0	0	14113	478	17	0	553	0	SERPINB8	18	61650927	Frame_Shift_Del	DEL	C	TCGA-CZ-5451-01A-01D-1501-10	6507079	61650927	16426321	78	31841											
IL27RA	9466	broad.mit.edu;ucsc.edu	37	19	14157347	14157347	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr19:14157347T>C	ENST00000263379.2	+	8	1183	c.1058T>C	c.(1057-1059)gTg>gCg	p.V353A		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	353	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.V353A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GAGCATGTAGTGGACTGGGCT	0.652																																					Colon(164;1849 1896 4443 37792 47834)											1	Substitution - Missense(1)	kidney(1)											97	102	100					19																	14157347		2203	4300	6503	SO:0001583	missense	9466			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1058T>C	19.37:g.14157347T>C	ENSP00000263379:p.Val353Ala		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654271	0.47467	.	.	ENSG00000104998	ENST00000263379	T	0.68624	-0.34	4.7	4.7	0.59300	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38720	N	0.001599	T	0.80099	0.4561	M	0.79475	2.455	0.40384	D	0.979478	D	0.76494	0.999	D	0.85130	0.997	T	0.82890	-0.0233	10	0.87932	D	0	-31.5714	10.4844	0.44713	0.0:0.0:0.0:1.0	.	353	Q6UWB1	I27RA_HUMAN	A	353	ENSP00000263379:V353A	ENSP00000263379:V353A	V	+	2	0	IL27RA	14018347	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	2.189000	0.42621	1.978000	0.57642	0.454000	0.30748	GTG		0.652	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		C	14157347	T	C	14157347	3	2	581	1	0	0	0	0	1	0	0	0	7683	1696	59	3	1088	3	IL27RA	19	14157347	Missense_Mutation	SNP	T	TCGA-CZ-5451-01A-01D-1501-10		14157347	44971636	79	31842											
CPAMD8	27151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17115085	17115085	+	Missense_Mutation	SNP	T	T	C	rs371807162		TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr19:17115085T>C	ENST00000443236.1	-	8	843	c.812A>G	c.(811-813)tAt>tGt	p.Y271C	CPAMD8_ENST00000388925.4_Missense_Mutation_p.Y224C	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	224						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y271C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAACTTACCATACTTCTGAAC	0.483																																																1	Substitution - Missense(1)	kidney(1)											85	80	81					19																	17115085		1903	4121	6024	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.812A>G	19.37:g.17115085T>C	ENSP00000402505:p.Tyr271Cys		Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.31|16.31	3.088534|3.088534	0.55968|0.55968	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440;ENST00000388925	.|T;T	.|0.12774	.|2.65;2.65	2.73|2.73	2.73|2.73	0.32206|0.32206	.|.	.|0.000000	.|0.64402	.|U	.|0.000020	T|T	0.38878|0.38878	0.1057|0.1057	M|M	0.87180|0.87180	2.865|2.865	0.49213|0.49213	D|D	0.999767|0.999767	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.37686|0.37686	-0.9695|-0.9695	5|10	.|0.87932	.|D	.|0	.|.	10.1391|10.1391	0.42725|0.42725	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|224	.|Q8IZJ3	.|CPMD8_HUMAN	V|C	282|271;224	.|ENSP00000291440:Y271C;ENSP00000373577:Y224C	.|ENSP00000291440:Y271C	M|Y	-|-	1|2	0|0	CPAMD8|CPAMD8	16976085|16976085	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.806000|0.806000	0.45545|0.45545	6.510000|6.510000	0.73729|0.73729	1.047000|1.047000	0.40274|0.40274	0.402000|0.402000	0.26972|0.26972	ATG|TAT		0.483	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		C	17115085	T	C	17115085	3	2	581	1	0	0	0	0	1	0	0	0	3797	1406	49	3	5126	3	CPAMD8	19	17115085	Missense_Mutation	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	2957738	17115085	42013898	80	31843											
VASP	7408	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46024608	46024608	+	Silent	SNP	T	T	G			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr19:46024608T>G	ENST00000245932.6	+	4	728	c.372T>G	c.(370-372)ctT>ctG	p.L124L	VASP_ENST00000586619.1_Intron	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	124	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)	p.L124L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CCCCAGCACTTCCCACCTGGT	0.652																																																1	Substitution - coding silent(1)	kidney(1)											43	33	36					19																	46024608		2192	4289	6481	SO:0001819	synonymous_variant	7408				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.372T>G	19.37:g.46024608T>G			B2RBT9|Q6PIZ1|Q93035	Silent	SNP	ENST00000245932.6	37	CCDS33051.1																																																																																				0.652	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			G	46024608	T	G	46024608	2	3	581	1	0	0	0	0	0	0	0	1	17133	1770	62	5		5	VASP	19	46024608	Silent	SNP	T	TCGA-CZ-5451-01A-01D-1501-10	28909523	46024608	13104375	81	31844											
DHDH	27294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49439432	49439433	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr19:49439432_49439433insA	ENST00000221403.2	+	3	386_387	c.346_347insA	c.(346-348)cgafs	p.R116fs	DHDH_ENST00000523250.1_Intron|DHDH_ENST00000522614.1_Frame_Shift_Ins_p.R116fs	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	116					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCCCGATCCCGAGCCCTCTTC	0.619																																																0																																										SO:0001589	frameshift_variant	27294			AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	Exception_encountered	19.37:g.49439432_49439433insA	ENSP00000221403:p.Arg116fs			Frame_Shift_Ins	INS	ENST00000221403.2	37	CCDS12741.1																																																																																				0.619	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		A	49439433	-	A	49439432	7	5	581	1	0	1	1	0	0	0	0	0	4481	644	23	0	356	0	DHDH	19	49439432	Frame_Shift_Ins	INS	-	TCGA-CZ-5451-01A-01D-1501-10	3414824	49439432	9689551	82	31845	235	2									
DHDH	27294	hgsc.bcm.edu	37	19	49439433	49439433	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr19:49439433G>A	ENST00000221403.2	+	3	387	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	DHDH_ENST00000523250.1_Intron|DHDH_ENST00000522614.1_Missense_Mutation_p.R116Q	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	116					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GCCCGATCCCGAGCCCTCTTC	0.617																																																0													17	19	18					19																	49439433		2200	4296	6496	SO:0001583	missense	27294			AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.347G>A	19.37:g.49439433G>A	ENSP00000221403:p.Arg116Gln			Missense_Mutation	SNP	ENST00000221403.2	37	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047354	0.36085	.	.	ENSG00000104808	ENST00000221403;ENST00000522614	T;T	0.22336	1.96;1.96	4.39	2.19	0.27852	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.383873	0.28859	N	0.013901	T	0.13372	0.0324	L	0.38531	1.155	0.09310	N	1	B	0.20052	0.041	B	0.14578	0.011	T	0.16012	-1.0417	10	0.44086	T	0.13	-0.8003	4.0693	0.09874	0.2133:0.1978:0.5889:0.0	.	116	Q9UQ10	DHDH_HUMAN	Q	116	ENSP00000221403:R116Q;ENSP00000428672:R116Q	ENSP00000221403:R116Q	R	+	2	0	DHDH	54131245	0.000000	0.05858	0.763000	0.31416	0.981000	0.71138	0.363000	0.20301	0.719000	0.32188	0.650000	0.86243	CGA		0.617	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		A	49439433	G	A	49439433	3	1	581	1	0	0	0	0	1	0	0	0	4481	1058	37	1	357	1	DHDH	19	49439433	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10	1	49439433	9689550	83	31846	235	2									
PCSK2	5126	broad.mit.edu;hgsc.bcm.edu	37	20	17417410	17417410	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr20:17417410G>T	ENST00000262545.2	+	8	1082	c.767G>T	c.(766-768)aGt>aTt	p.S256I	PCSK2_ENST00000377899.1_Missense_Mutation_p.S237I|PCSK2_ENST00000536609.1_Missense_Mutation_p.S221I	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	256	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.S256I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCCTCCATCAGTCATATGCCA	0.592																																																1	Substitution - Missense(1)	kidney(1)											80	68	72					20																	17417410		2203	4300	6503	SO:0001583	missense	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.767G>T	20.37:g.17417410G>T	ENSP00000262545:p.Ser256Ile		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924548	0.92319	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87334	-2.24;-2.24;-2.24	5.38	5.38	0.77491	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	L	0.45581	1.43	0.80722	D	1	D;D	0.57257	0.979;0.979	D;D	0.68943	0.913;0.961	D	0.92046	0.5644	10	0.87932	D	0	-36.2924	17.6879	0.88261	0.0:0.0:1.0:0.0	.	221;256	B4DFQ3;P16519	.;NEC2_HUMAN	I	237;256;221	ENSP00000367131:S237I;ENSP00000262545:S256I;ENSP00000437458:S221I	ENSP00000262545:S256I	S	+	2	0	PCSK2	17365410	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.413000	0.97351	2.519000	0.84933	0.655000	0.94253	AGT		0.592	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		T	17417410	G	T	17417410	3	4	581	1	0	0	0	0	1	0	0	0	11603	1029	36	4	797	4	PCSK2	20	17417410	Missense_Mutation	SNP	G	TCGA-CZ-5451-01A-01D-1501-10		17417410	45608110	84	31847											
ITCH	83737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33012330	33012330	+	Splice_Site	SNP	A	A	C			TCGA-CZ-5451-01A-01D-1501-10	TCGA-CZ-5451-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b1923d68-1d1e-4b59-b643-09e2c5969efd	9929ec38-d099-46f7-bcb4-7f6262394788	g.chr20:33012330A>C	ENST00000262650.6	+	8	779	c.643A>C	c.(643-645)Aga>Cga	p.R215R	ITCH_ENST00000535650.1_Splice_Site_p.R64R|ITCH_ENST00000374864.4_Splice_Site_p.R174R			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	215					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)	p.R174R(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GGATGAAACAAGGTAAGCATT	0.338																																																1	Substitution - coding silent(1)	kidney(1)											142	133	136					20																	33012330		2203	4300	6503	SO:0001630	splice_region_variant	83737			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.644+1A>C	20.37:g.33012330A>C			A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	CCDS58768.1																																																																																				0.338	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2		Silent	C	33012330	A	C	33012330	5	2	581	1	0	0	0	0	0	0	1	0	7870	86	3	5	538	5	ITCH	20	33012330	Splice_Site	SNP	A	TCGA-CZ-5451-01A-01D-1501-10	15594920	33012330	30013190	85	31848											
TRIM45	80263	broad.mit.edu	37	1	117661045	117661045	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr1:117661045C>T	ENST00000256649.4	-	2	1359	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	TRIM45_ENST00000369464.3_Missense_Mutation_p.R278Q|TRIM45_ENST00000369461.3_Missense_Mutation_p.R221Q	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	278					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R278Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CGAGAATGTCCGGACATCAGC	0.572																																																1	Substitution - Missense(1)	kidney(1)											61	65	64					1																	117661045		2203	4300	6503	SO:0001583	missense	80263				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.833G>A	1.37:g.117661045C>T	ENSP00000256649:p.Arg278Gln		Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	6.211	0.407025	0.11754	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.86097	-2.07;-2.07;-2.07	5.32	0.224	0.15297	.	0.436137	0.25169	N	0.032603	T	0.61937	0.2387	L	0.45581	1.43	0.09310	N	1	B;B	0.27166	0.17;0.106	B;B	0.16722	0.016;0.007	T	0.53049	-0.8493	10	0.30854	T	0.27	-2.6042	11.38	0.49752	0.0:0.6159:0.0:0.3841	.	278;278	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	Q	278;278;221	ENSP00000256649:R278Q;ENSP00000358476:R278Q;ENSP00000358473:R221Q	ENSP00000256649:R278Q	R	-	2	0	TRIM45	117462568	0.238000	0.23825	0.000000	0.03702	0.175000	0.22909	0.765000	0.26546	-0.317000	0.08677	-0.797000	0.03246	CGG		0.572	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		T	117661045	C	T	117661045	3	4	582	1	0	0	0	0	1	0	0	0	16525	652	23	1	929	1	TRIM45	1	117661045	Missense_Mutation	SNP	C	TCGA-CZ-5452-01A-01D-1501-10		117661045	131589576	1	31849											
LYST	1130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235971939	235971939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr1:235971939G>A	ENST00000389794.3	-	5	2353	c.2179C>T	c.(2179-2181)Cag>Tag	p.Q727*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Q727*|LYST_ENST00000536965.1_Nonsense_Mutation_p.Q727*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	727					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.Q727*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATTTCCACTGAACAACTATA	0.328																																																1	Substitution - Nonsense(1)	kidney(1)											46	50	49					1																	235971939		2203	4300	6503	SO:0001587	stop_gained	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2179C>T	1.37:g.235971939G>A	ENSP00000374444:p.Gln727*		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	42	9.468019	0.99180	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	.	.	.	5.8	5.8	0.92144	.	0.162102	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	.	.	.	X	727	.	ENSP00000374443:Q727X	Q	-	1	0	LYST	234038562	1.000000	0.71417	0.980000	0.43619	0.886000	0.51366	9.476000	0.97823	2.744000	0.94065	0.655000	0.94253	CAG		0.328	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			A	235971939	G	A	235971939	4	1	582	1	0	0	0	0	0	1	0	0	9130	1299	45	2	9422	2	LYST	1	235971939	Nonsense_Mutation	SNP	G	TCGA-CZ-5452-01A-01D-1501-10	118310894	235971939	13278682	2	31850											
CEP170	9859	broad.mit.edu	37	1	243362432	243362432	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr1:243362432C>A	ENST00000366542.1	-	7	612	c.561G>T	c.(559-561)gaG>gaT	p.E187D	CEP170_ENST00000366544.1_Missense_Mutation_p.E187D|CEP170_ENST00000366543.1_Missense_Mutation_p.E187D	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	187						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.E187D(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTCATCCACCTCATCATCCC	0.423																																																1	Substitution - Missense(1)	kidney(1)											65	58	60					1																	243362432		1833	4083	5916	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.561G>T	1.37:g.243362432C>A	ENSP00000355500:p.Glu187Asp		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.554|3.554	-0.091125|-0.091125	0.07053|0.07053	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.12879|.	2.64;2.64;2.64|.	5.05|5.05	-1.27|-1.27	0.09347|0.09347	.|.	0.112679|.	0.64402|.	D|.	0.000014|.	T|T	0.19485|0.19485	0.0468|0.0468	N|N	0.02876|0.02876	-0.465|-0.465	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26041|.	0.08;0.14;0.004|.	B;B;B|.	0.39562|.	0.192;0.303;0.009|.	T|T	0.07252|0.07252	-1.0782|-1.0782	10|5	0.02654|.	T|.	1|.	-13.3433|-13.3433	7.2043|7.2043	0.25899|0.25899	0.0:0.3879:0.1182:0.4939|0.0:0.3879:0.1182:0.4939	.|.	187;187;187|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	D|M	187;187;187;85|89	ENSP00000355500:E187D;ENSP00000355502:E187D;ENSP00000355501:E187D|.	ENSP00000355500:E187D|.	E|R	-|-	3|2	2|0	CEP170|CEP170	241429055|241429055	0.266000|0.266000	0.24112|0.24112	0.771000|0.771000	0.31576|0.31576	0.967000|0.967000	0.64934|0.64934	-0.433000|-0.433000	0.06948|0.06948	-0.040000|-0.040000	0.13580|0.13580	0.455000|0.455000	0.32223|0.32223	GAG|AGG		0.423	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		A	243362432	C	A	243362432	3	1	582	1	0	0	0	0	1	0	0	0	3252	680	24	4	4279	4	CEP170	1	243362432	Missense_Mutation	SNP	C	TCGA-CZ-5452-01A-01D-1501-10	7390493	243362432	5888189	3	31851											
NT5C1B	93034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	18765441	18765441	+	Silent	SNP	C	C	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr2:18765441C>T	ENST00000359846.2	-	6	1061	c.984G>A	c.(982-984)gaG>gaA	p.E328E	NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000600945.1_Silent_p.E328E|NT5C1B-RDH14_ENST00000532967.1_Silent_p.E328E|NT5C1B_ENST00000304081.4_Silent_p.E268E|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	328					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.E328E(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GACCCTCTTGCTCGTAGATTT	0.552																																																1	Substitution - coding silent(1)	kidney(1)											166	159	161					2																	18765441		2203	4300	6503	SO:0001819	synonymous_variant	93034			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.984G>A	2.37:g.18765441C>T			B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	CCDS33150.1																																																																																				0.552	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			T	18765441	C	T	18765441	2	4	582	1	0	0	0	0	0	0	0	1	10688	796	28	2		2	NT5C1B	2	18765441	Silent	SNP	C	TCGA-CZ-5452-01A-01D-1501-10		18765441	224433932	4	31852											
RASGRP3	25780	hgsc.bcm.edu;ucsc.edu	37	2	33747059	33747059	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr2:33747059delA	ENST00000403687.3	+	7	1146	c.406delA	c.(406-408)aaafs	p.K137fs	RASGRP3_ENST00000402538.3_Frame_Shift_Del_p.K137fs|RASGRP3_ENST00000407811.1_Frame_Shift_Del_p.K137fs	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	137					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CACACAGAGGAAAAAAGTATC	0.423																																																0													131	127	129					2																	33747059		1873	4106	5979	SO:0001589	frameshift_variant	25780			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.406delA	2.37:g.33747059delA	ENSP00000384192:p.Lys137fs		D6W583|O94931|Q53SD7	Frame_Shift_Del	DEL	ENST00000403687.3	37	CCDS46256.1																																																																																				0.423	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		-	33747059	A	-	33747059	7	5	582	1	0	1	0	1	0	0	0	0	13082	247	9	0	424	0	RASGRP3	2	33747059	Frame_Shift_Del	DEL	A	TCGA-CZ-5452-01A-01D-1501-10	14981618	33747059	209452314	5	31853											
C2orf57	165100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	232458055	232458055	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr2:232458055A>C	ENST00000313965.2	+	1	481	c.393A>C	c.(391-393)aaA>aaC	p.K131N		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	131								p.K131N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		TCCTGGGTAAAGACAAGATGT	0.552																																																1	Substitution - Missense(1)	kidney(1)											128	131	130					2																	232458055		2203	4300	6503	SO:0001583	missense	165100			BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.393A>C	2.37:g.232458055A>C	ENSP00000315557:p.Lys131Asn		Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	g	10.28	1.307279	0.23821	.	.	ENSG00000177673	ENST00000313965	T	0.18960	2.18	4.57	-0.874	0.10631	.	2.077960	0.02718	N	0.113705	T	0.12008	0.0292	N	0.14661	0.345	0.09310	N	1	B	0.20052	0.041	B	0.16289	0.015	T	0.19549	-1.0302	10	0.27785	T	0.31	.	4.5701	0.12205	0.2843:0.2994:0.4163:0.0	.	131	Q53QW1	CB057_HUMAN	N	131	ENSP00000315557:K131N	ENSP00000315557:K131N	K	+	3	2	C2orf57	232166299	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.298000	0.08265	-0.293000	0.08986	-0.251000	0.11542	AAA		0.552	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		C	232458055	A	C	232458055	3	2	582	1	0	0	0	0	1	0	0	0	2180	69	3	5	395	5	C2orf57	2	232458055	Missense_Mutation	SNP	A	TCGA-CZ-5452-01A-01D-1501-10	198710996	232458055	10741318	6	31854											
BAP1	8314	ucsc.edu	37	3	52438499	52438499	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	T	T	T	-	T	T	Unknown	Valid	Somatic	.	WXS	PGM	.		Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr3:52438499delT	ENST00000460680.1	-	12	1691	c.1220delA	c.(1219-1221)gatfs	p.D408fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.D390fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	206					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCAcgtcatcctcctcgtc	0.562			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													179	133	148					3																	52438499		2203	4300	6503	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1220delA	3.37:g.52438499delT	ENSP00000417132:p.Asp408fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																				0.562	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52438499	T	-	52438499	7	5	582	1	0	1	0	1	0	0	0	0	1311	1435	50	0	993	0	BAP1	3	52438499	Frame_Shift_Del	DEL	T	TCGA-CZ-5452-01A-01D-1501-10		52438499	145583931	7	31855											
C3orf63	23272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	56667432	56667432	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr3:56667432G>T	ENST00000493960.2	-	18	3397	c.3387C>A	c.(3385-3387)aaC>aaA	p.N1129K	FAM208A_ENST00000355628.5_Missense_Mutation_p.N1068K|FAM208A_ENST00000431842.2_Missense_Mutation_p.N692K	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1129				N -> S (in Ref. 1; AAD55098). {ECO:0000305}.			poly(A) RNA binding (GO:0044822)	p.N1068K(1)|p.S692R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GATGTTTATTGTTGAAGTCAC	0.438																																																2	Substitution - Missense(2)	kidney(2)											139	134	136					3																	56667432		2203	4300	6503	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3387C>A	3.37:g.56667432G>T	ENSP00000417509:p.Asn1129Lys		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	3.716	-0.058532	0.07317	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11169	2.8;3.01;3.01	5.57	3.71	0.42584	.	0.832537	0.11229	N	0.585805	T	0.12518	0.0304	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.29037	0.052;0.082;0.231;0.126	B;B;B;B	0.32980	0.075;0.036;0.156;0.08	T	0.26155	-1.0111	10	0.46703	T	0.11	-0.0461	8.9081	0.35537	0.0686:0.0:0.6679:0.2634	.	1129;1068;692;1129	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	K	692;1129;1068	ENSP00000399410:N692K;ENSP00000417509:N1129K;ENSP00000347845:N1068K	ENSP00000347845:N1068K	N	-	3	2	C3orf63	56642472	0.297000	0.24408	0.118000	0.21660	0.481000	0.33189	2.113000	0.41902	0.756000	0.33013	0.650000	0.86243	AAC		0.438	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		T	56667432	G	T	56667432	3	4	582	1	0	0	0	0	1	0	0	0	2241	1368	48	4	1713	4	C3orf63	3	56667432	Missense_Mutation	SNP	G	TCGA-CZ-5452-01A-01D-1501-10	4228933	56667432	141354998	8	31856											
PRKCI	5584	broad.mit.edu	37	3	169940502	169940503	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr3:169940502_169940503delAG	ENST00000295797.4	+	1	350_351	c.45_46delAG	c.(43-48)gcaggcfs	p.G18fs		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	18	Regulatory domain.|Required for interaction with RAB2.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	ACACGGTCGCAGGCGGCGGCAG	0.728																																																0																																										SO:0001589	frameshift_variant	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.45_46delAG	3.37:g.169940502_169940503delAG	ENSP00000295797:p.Gly18fs		D3DNQ4|Q8WW06	Frame_Shift_Del	DEL	ENST00000295797.4	37	CCDS3212.2																																																																																				0.728	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		-	169940503	AG	-	169940502	7	5	582	1	0	1	0	1	0	0	0	0	12519	175	7	0	47	0	PRKCI	3	169940502	Frame_Shift_Del	DEL	AG	TCGA-CZ-5452-01A-01D-1501-10	113273070	169940502	28081928	9	31857											
DRD5	1816	broad.mit.edu	37	4	9783962	9783962	+	Silent	SNP	G	G	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCGCCGAGGTGGCCGGTTACT	0.612																																																1	Substitution - coding silent(1)	kidney(1)											51	49	49					4																	9783962		2203	4300	6503	SO:0001819	synonymous_variant	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.309G>T	4.37:g.9783962G>T			B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	CCDS3405.1																																																																																				0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			T	9783962	G	T	9783962	2	4	582	1	0	0	0	0	0	0	0	1	4762	1335	47	4		4	DRD5	4	9783962	Silent	SNP	G	TCGA-CZ-5452-01A-01D-1501-10		9783962	181370314	10	31858											
ATP10D	57205	hgsc.bcm.edu	37	4	47560001	47560001	+	Silent	SNP	G	G	A			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr4:47560001G>A	ENST00000273859.3	+	12	2414	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	715					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCCCTGGACAGCCATTGGCCT	0.582																																																0													63	57	59					4																	47560001		2203	4300	6503	SO:0001819	synonymous_variant	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2145G>A	4.37:g.47560001G>A			A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	CCDS3476.1																																																																																				0.582	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		A	47560001	G	A	47560001	2	1	582	1	0	0	0	0	0	0	0	1	1118	962	34	2		2	ATP10D	4	47560001	Silent	SNP	G	TCGA-CZ-5452-01A-01D-1501-10	37776039	47560001	143594275	11	31859											
MOCS2	4338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	52404436	52404436	+	Missense_Mutation	SNP	G	G	A	rs372782831		TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr5:52404436G>A	ENST00000361377.4	-	2	97	c.56C>T	c.(55-57)aCa>aTa	p.T19I	CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000510818.2_Missense_Mutation_p.T19I|MOCS2_ENST00000508922.1_Missense_Mutation_p.T19I|MOCS2_ENST00000582677.1_Missense_Mutation_p.T19I|MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000450852.3_Missense_Mutation_p.T19I|MOCS2_ENST00000527216.1_Missense_Mutation_p.T14I|CTD-2366F13.1_ENST00000502171.2_RNA|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000584946.1_Missense_Mutation_p.T19I					molybdenum cofactor synthesis 2									p.T19I(1)		endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ACGAACTCCTGTTATTTCAGC	0.363																																																1	Substitution - Missense(1)	kidney(1)											100	90	93					5																	52404436		1843	4102	5945	SO:0001583	missense	4338			AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000361377.4:c.56C>T	5.37:g.52404436G>A	ENSP00000355160:p.Thr19Ile			Missense_Mutation	SNP	ENST00000361377.4	37	CCDS47205.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217859	0.58560	.	.	ENSG00000164172	ENST00000361377;ENST00000510818;ENST00000450852;ENST00000508922	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.86	4.99	0.66335	Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp (1);Beta-grasp fold, ferredoxin-type (1);	.	.	.	.	T	0.49150	0.1540	.	.	.	0.22531	N	0.999019	B	0.22851	0.076	B	0.26864	0.074	T	0.29822	-0.9999	8	0.15952	T	0.53	.	14.538	0.67973	0.0709:0.0:0.9291:0.0	.	19	O96033	MOC2A_HUMAN	I	19	ENSP00000355160:T19I;ENSP00000424267:T19I;ENSP00000411022:T19I;ENSP00000426274:T19I	ENSP00000355160:T19I	T	-	2	0	MOCS2	52440193	0.998000	0.40836	0.264000	0.24511	0.989000	0.77384	4.820000	0.62671	1.474000	0.48178	0.655000	0.94253	ACA		0.363	MOCS2-004	KNOWN	alternative_3_UTR|NMD_exception|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000367796.3	NM_183418		A	52404436	G	A	52404436	3	1	582	1	0	0	0	0	1	0	0	0	9693	1377	48	2	721	2	MOCS2	5	52404436	Missense_Mutation	SNP	G	TCGA-CZ-5452-01A-01D-1501-10		52404436	128510824	12	31860											
PCDHGA5	56110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140745027	140745027	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr5:140745027G>A	ENST00000518069.1	+	1	1130	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	377	Cadherin 4. {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)	p.G377E(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGATTCTGGAGAAAATGGT	0.443																																																1	Substitution - Missense(1)	kidney(1)											99	98	98					5																	140745027		1998	4174	6172	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1130G>A	5.37:g.140745027G>A	ENSP00000429834:p.Gly377Glu		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	13.15	2.150105	0.37923	.	.	ENSG00000253485	ENST00000518069	T	0.49720	0.77	5.52	4.64	0.57946	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61924	0.2386	M	0.81341	2.54	0.28499	N	0.914111	P;P	0.49961	0.914;0.93	P;P	0.50825	0.519;0.651	T	0.60959	-0.7159	9	0.36615	T	0.2	.	16.242	0.82418	0.0:0.1332:0.8668:0.0	.	377;377	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	E	377	ENSP00000429834:G377E	ENSP00000429834:G377E	G	+	2	0	PCDHGA5	140725211	0.999000	0.42202	1.000000	0.80357	0.683000	0.39861	2.831000	0.48144	1.427000	0.47276	0.563000	0.77884	GGA		0.443	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		A	140745027	G	A	140745027	3	1	582	1	0	0	0	0	1	0	0	0	11559	1174	41	2	1132	2	PCDHGA5	5	140745027	Missense_Mutation	SNP	G	TCGA-CZ-5452-01A-01D-1501-10	88340591	140745027	40170233	13	31861											
FAM71B	153745	broad.mit.edu;ucsc.edu	37	5	156592756	156592756	+	Silent	SNP	G	G	A			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr5:156592756G>A	ENST00000302938.4	-	1	519	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	142						nucleus (GO:0005634)		p.L142L(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGAGTTTCAGGCGCAGCTGC	0.493																																																1	Substitution - coding silent(1)	kidney(1)											87	92	91					5																	156592756		2203	4300	6503	SO:0001819	synonymous_variant	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.424C>T	5.37:g.156592756G>A			Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	CCDS4335.1																																																																																				0.493	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		A	156592756	G	A	156592756	2	1	582	1	0	0	0	0	0	0	0	1	5610	991	35	2		2	FAM71B	5	156592756	Silent	SNP	G	TCGA-CZ-5452-01A-01D-1501-10	15847729	156592756	24322504	14	31862	236	2									
FAM71B	153745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156592758	156592758	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr5:156592758C>T	ENST00000302938.4	-	1	517	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	141						nucleus (GO:0005634)		p.R141H(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGTTTCAGGCGCAGCTGCTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											86	91	89					5																	156592758		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.422G>A	5.37:g.156592758C>T	ENSP00000305596:p.Arg141His		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576376	0.45902	.	.	ENSG00000170613	ENST00000302938	T	0.18502	2.21	4.56	3.68	0.42216	.	0.391929	0.21891	N	0.067584	T	0.34483	0.0899	M	0.62154	1.92	0.36227	D	0.852382	D	0.62365	0.991	D	0.65323	0.934	T	0.41822	-0.9487	10	0.56958	D	0.05	-14.3951	11.2991	0.49295	0.0:0.8151:0.1848:0.0	.	141	Q8TC56	FA71B_HUMAN	H	141	ENSP00000305596:R141H	ENSP00000305596:R141H	R	-	2	0	FAM71B	156525336	0.999000	0.42202	0.987000	0.45799	0.103000	0.19146	1.688000	0.37690	1.216000	0.43427	0.655000	0.94253	CGC		0.498	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		T	156592758	C	T	156592758	3	4	582	1	0	0	0	0	1	0	0	0	5610	768	27	1	1403	1	FAM71B	5	156592758	Missense_Mutation	SNP	C	TCGA-CZ-5452-01A-01D-1501-10	2	156592758	24322502	15	31863	236	2									
BTBD9	114781	broad.mit.edu;ucsc.edu	37	6	38160335	38160335	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr6:38160335G>T	ENST00000481247.1	-	10	1752	c.1601C>A	c.(1600-1602)tCc>tAc	p.S534Y	BTBD9_ENST00000314100.6_Missense_Mutation_p.S466Y|BTBD9_ENST00000403056.1_Missense_Mutation_p.S534Y|BTBD9_ENST00000408958.1_Missense_Mutation_p.S466Y|BTBD9_ENST00000419706.2_Missense_Mutation_p.S504Y	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	534					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)			p.S534Y(1)|p.S466Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ACGGATGAAGGAGGCAGGCTG	0.473																																																2	Substitution - Missense(2)	kidney(2)											158	153	155					6																	38160335		2029	4204	6233	SO:0001583	missense	114781				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1601C>A	6.37:g.38160335G>T	ENSP00000418751:p.Ser534Tyr		Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659606	0.67586	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.15	5.15	0.70609	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.78266	0.4256	L	0.40543	1.245	0.49687	D	0.999811	D;D	0.65815	0.971;0.995	P;D	0.72982	0.903;0.979	T	0.81317	-0.0987	10	0.72032	D	0.01	.	11.9365	0.52876	0.0:0.1755:0.8245:0.0	.	504;534	Q494V9;Q96Q07	.;BTBD9_HUMAN	Y	466;534;504;534;466	ENSP00000323408:S466Y;ENSP00000418751:S534Y;ENSP00000415365:S504Y;ENSP00000386121:S534Y;ENSP00000386211:S466Y	ENSP00000323408:S466Y	S	-	2	0	BTBD9	38268313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.235000	0.65348	2.387000	0.81309	0.655000	0.94253	TCC		0.473	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		T	38160335	G	T	38160335	3	4	582	1	0	0	0	0	1	0	0	0	1550	1174	41	4	245	4	BTBD9	6	38160335	Missense_Mutation	SNP	G	TCGA-CZ-5452-01A-01D-1501-10		38160335	132954732	16	31864											
LAMA2	3908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	129371227	129371227	+	Missense_Mutation	SNP	C	C	A	rs530988751	byFrequency	TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr6:129371227C>A	ENST00000421865.2	+	2	326	c.277C>A	c.(277-279)Cca>Aca	p.P93T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	93	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.P93T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCAGCAATCCAAACCGTAT	0.438													C|||	2	0.000399361	0.0	0.0	5008	,	,		16485	0.002		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											148	124	132					6																	129371227		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.277C>A	6.37:g.129371227C>A	ENSP00000400365:p.Pro93Thr		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024427	0.75390	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.74632	-0.86	5.44	4.52	0.55395	Laminin, N-terminal (3);	0.321128	0.28510	N	0.015095	T	0.73931	0.3650	M	0.78456	2.415	0.39807	D	0.972656	P;P	0.40578	0.722;0.722	B;B	0.43413	0.419;0.419	T	0.80294	-0.1443	10	0.72032	D	0.01	.	17.7953	0.88568	0.0:0.8677:0.1323:0.0	.	93;93	A6NF00;P24043	.;LAMA2_HUMAN	T	93	ENSP00000400365:P93T	ENSP00000346769:P93T	P	+	1	0	LAMA2	129412920	0.029000	0.19370	0.999000	0.59377	0.913000	0.54294	1.409000	0.34680	2.552000	0.86080	0.561000	0.74099	CCA		0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129371227	C	A	129371227	3	1	582	1	0	0	0	0	1	0	0	0	8608	855	30	4	283	4	LAMA2	6	129371227	Missense_Mutation	SNP	C	TCGA-CZ-5452-01A-01D-1501-10	91210892	129371227	41743840	17	31865											
KIAA0415	9907	broad.mit.edu;ucsc.edu	37	7	4830337	4830337	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr7:4830337T>C	ENST00000348624.4	+	16	2066	c.1972T>C	c.(1972-1974)Tac>Cac	p.Y658H	AP5Z1_ENST00000490487.1_Intron|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	658					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y1369H(1)|p.Y502H(1)									GTCGGTGACCTACGATCGGAG	0.657																																																2	Substitution - Missense(2)	kidney(2)											43	51	48					7																	4830337		2016	4156	6172	SO:0001583	missense	0			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1972T>C	7.37:g.4830337T>C	ENSP00000297562:p.Tyr658His		Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	T	8.632	0.893957	0.17613	.	.	ENSG00000242802	ENST00000348624	T	0.64991	-0.13	5.3	4.15	0.48705	Armadillo-like helical (1);	.	.	.	.	T	0.57021	0.2025	M	0.66939	2.045	0.28588	N	0.909807	B;B	0.21821	0.011;0.061	B;B	0.16289	0.003;0.015	T	0.50224	-0.8853	9	0.26408	T	0.33	.	9.1721	0.37089	0.0:0.1535:0.0:0.8465	.	1369;658	A4D1Z4;O43299	.;K0415_HUMAN	H	658	ENSP00000297562:Y658H	ENSP00000297562:Y658H	Y	+	1	0	KIAA0415	4796863	0.318000	0.24598	0.001000	0.08648	0.057000	0.15508	2.523000	0.45580	0.970000	0.38263	0.448000	0.29417	TAC		0.657	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			C	4830337	T	C	4830337	3	2	582	1	0	0	0	0	1	0	0	0	8177	1522	53	3	2034	3	KIAA0415	7	4830337	Missense_Mutation	SNP	T	TCGA-CZ-5452-01A-01D-1501-10		4830337	154308326	18	31866											
PI15	51050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	75756222	75756222	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr8:75756222G>T	ENST00000260113.2	+	3	459	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	PI15_ENST00000523773.1_Missense_Mutation_p.D94Y|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	94	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.D94Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ACAGGTTTGGGATGAAAATCT	0.393																																																1	Substitution - Missense(1)	kidney(1)											100	101	101					8																	75756222		2203	4300	6503	SO:0001583	missense	51050			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.280G>T	8.37:g.75756222G>T	ENSP00000260113:p.Asp94Tyr		Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505334	0.85282	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.18338	2.22;2.22	5.06	5.06	0.68205	CAP domain (3);	0.048766	0.85682	D	0.000000	T	0.51210	0.1661	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.58295	-0.7661	10	0.52906	T	0.07	.	18.9924	0.92798	0.0:0.0:1.0:0.0	.	94	O43692	PI15_HUMAN	Y	94	ENSP00000260113:D94Y;ENSP00000428567:D94Y	ENSP00000260113:D94Y	D	+	1	0	PI15	75918777	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.962000	0.93254	2.783000	0.95769	0.655000	0.94253	GAT		0.393	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		T	75756222	G	T	75756222	3	4	582	1	0	0	0	0	1	0	0	0	11870	1174	41	4	286	4	PI15	8	75756222	Missense_Mutation	SNP	G	TCGA-CZ-5452-01A-01D-1501-10		75756222	70607800	19	31867											
ALDH1A1	216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	75555088	75555088	+	Silent	SNP	G	G	A			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr9:75555088G>A	ENST00000297785.3	-	2	201	c.147C>T	c.(145-147)ctC>ctT	p.L49L	ALDH1A1_ENST00000376939.1_Silent_p.L49L|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	49					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.L49L(1)|p.L63L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	CTACCTGGCAGAGCTCCTCCT	0.408																																																2	Substitution - coding silent(2)	kidney(2)											123	121	122					9																	75555088		2203	4300	6503	SO:0001819	synonymous_variant	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.147C>T	9.37:g.75555088G>A			O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	CCDS6644.1																																																																																				0.408	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			A	75555088	G	A	75555088	2	1	582	1	0	0	0	0	0	0	0	1	490	929	33	2		2	ALDH1A1	9	75555088	Silent	SNP	G	TCGA-CZ-5452-01A-01D-1501-10		75555088	65658343	20	31868											
HEPHL1	341208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	93836116	93836116	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr11:93836116G>T	ENST00000315765.9	+	15	2620	c.2612G>T	c.(2611-2613)aGa>aTa	p.R871I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	871	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.R875I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATCCCTAAAAGATCCGGTCCA	0.343																																																1	Substitution - Missense(1)	kidney(1)											75	71	72					11																	93836116		1800	4058	5858	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2612G>T	11.37:g.93836116G>T	ENSP00000313699:p.Arg871Ile		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032585	0.75504	.	.	ENSG00000181333	ENST00000315765	D	0.98747	-5.11	5.16	5.16	0.70880	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.044111	0.85682	D	0.000000	D	0.99387	0.9784	M	0.93507	3.425	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	D	0.98686	1.0694	10	0.72032	D	0.01	-16.2966	18.6682	0.91499	0.0:0.0:1.0:0.0	.	871	Q6MZM0	HPHL1_HUMAN	I	871	ENSP00000313699:R871I	ENSP00000313699:R871I	R	+	2	0	HEPHL1	93475764	1.000000	0.71417	0.999000	0.59377	0.778000	0.44026	8.588000	0.90813	2.401000	0.81631	0.650000	0.86243	AGA		0.343	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		T	93836116	G	T	93836116	3	4	582	1	0	0	0	0	1	0	0	0	7057	942	33	4	2670	4	HEPHL1	11	93836116	Missense_Mutation	SNP	G	TCGA-CZ-5452-01A-01D-1501-10		93836116	41170400	21	31869											
KITLG	4254	hgsc.bcm.edu;ucsc.edu	37	12	88939566	88939566	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr12:88939566delT	ENST00000228280.5	-	2	274	c.92delA	c.(91-93)aatfs	p.N31fs	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000347404.5_Frame_Shift_Del_p.N31fs	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	31					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|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)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						AGTCACACGATTCCTGCAGAT	0.383									Testicular Cancer, Familial Clustering of																																							0													92	84	87					12																	88939566		2203	4300	6503	SO:0001589	frameshift_variant	4254	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"mast cell growth factor", "stem cell factor", "steel factor", "familial progressive hyperpigmentation 2"	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.92delA	12.37:g.88939566delT	ENSP00000228280:p.Asn31fs		A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Frame_Shift_Del	DEL	ENST00000228280.5	37	CCDS31868.1																																																																																				0.383	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994		-	88939566	T	-	88939566	7	5	582	1	0	1	0	1	0	0	0	0	8332	1493	52	0	761	0	KITLG	12	88939566	Frame_Shift_Del	DEL	T	TCGA-CZ-5452-01A-01D-1501-10		88939566	44912329	22	31870											
RBM19	9904	hgsc.bcm.edu;ucsc.edu	37	12	114364876	114364877	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr12:114364876_114364877insT	ENST00000545145.2	-	17	2304_2305	c.2226_2227insA	c.(2224-2229)acagaafs	p.E743fs	RBM19_ENST00000261741.5_Frame_Shift_Ins_p.E743fs|RBM19_ENST00000392561.3_Frame_Shift_Ins_p.E743fs	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	743	RRM 5. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AGCTTCTCTTCTGTTGTGTCAA	0.49																																																0																																										SO:0001589	frameshift_variant	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2227dupA	12.37:g.114364877_114364877dupT	ENSP00000442053:p.Glu743fs		A8K5X9|Q9BPY6|Q9UFN5	Frame_Shift_Ins	INS	ENST00000545145.2	37	CCDS9172.1																																																																																				0.49	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		T	114364877	-	T	114364876	7	5	582	1	0	1	1	0	0	0	0	0	13127	922	32	0	687	0	RBM19	12	114364876	Frame_Shift_Ins	INS	-	TCGA-CZ-5452-01A-01D-1501-10	25425310	114364876	19487019	23	31871											
RALGAPA1	253959	broad.mit.edu;hgsc.bcm.edu	37	14	36143766	36143766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr14:36143766G>A	ENST00000389698.3	-	22	3646	c.3256C>T	c.(3256-3258)Caa>Taa	p.Q1086*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.Q1086*|RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.Q1133*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.Q1099*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1086					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.Q1086*(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAAAAACTTGAGCATGTATT	0.353																																																2	Substitution - Nonsense(2)	kidney(2)											28	29	29					14																	36143766		2200	4288	6488	SO:0001587	stop_gained	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3256C>T	14.37:g.36143766G>A	ENSP00000374348:p.Gln1086*		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	45	11.840016	0.99609	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-11.7635	19.6332	0.95719	0.0:0.0:1.0:0.0	.	.	.	.	X	1086;1086;1086;1133;1099;1133	.	ENSP00000258840:Q1133X	Q	-	1	0	RALGAPA1	35213517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.872000	0.87187	2.645000	0.89757	0.591000	0.81541	CAA		0.353	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		A	36143766	G	A	36143766	4	1	582	1	0	0	0	0	0	1	0	0	13019	1299	45	2	3083	2	RALGAPA1	14	36143766	Nonsense_Mutation	SNP	G	TCGA-CZ-5452-01A-01D-1501-10		36143766	71205774	24	31872											
IQGAP1	8826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91020913	91020913	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr15:91020913A>C	ENST00000268182.5	+	26	3245	c.3121A>C	c.(3121-3123)Att>Ctt	p.I1041L	IQGAP1_ENST00000560738.1_Missense_Mutation_p.I469L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1041	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.I1041L(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGTAGATCAGATTCAAGAGAT	0.413																																																1	Substitution - Missense(1)	kidney(1)											76	80	79					15																	91020913		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3121A>C	15.37:g.91020913A>C	ENSP00000268182:p.Ile1041Leu		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694017	0.48202	.	.	ENSG00000140575	ENST00000268182	T	0.78246	-1.16	5.86	4.73	0.59995	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.107330	0.64402	D	0.000006	T	0.62295	0.2416	L	0.28740	0.885	0.80722	D	1	B	0.02656	0.0	B	0.17979	0.02	T	0.53739	-0.8396	10	0.02654	T	1	-13.1644	11.2293	0.48903	0.9285:0.0:0.0715:0.0	.	1041	P46940	IQGA1_HUMAN	L	1041	ENSP00000268182:I1041L	ENSP00000268182:I1041L	I	+	1	0	IQGAP1	88821917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.499000	0.53310	1.040000	0.40099	0.533000	0.62120	ATT		0.413	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		C	91020913	A	C	91020913	3	2	582	1	0	0	0	0	1	0	0	0	7816	333	12	5	3223	5	IQGAP1	15	91020913	Missense_Mutation	SNP	A	TCGA-CZ-5452-01A-01D-1501-10		91020913	11510479	25	31873											
GPATCH8	23131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42476146	42476146	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr17:42476146C>A	ENST00000591680.1	-	8	3329	c.3299G>T	c.(3298-3300)aGg>aTg	p.R1100M	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R1022M	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1100							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1100M(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTCCACTTTCCTTGACTGGAT	0.532																																																1	Substitution - Missense(1)	kidney(1)											146	117	126					17																	42476146		2203	4300	6503	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3299G>T	17.37:g.42476146C>A	ENSP00000467556:p.Arg1100Met		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	9.458	1.092450	0.20471	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.14893	2.47	4.99	1.9	0.25705	.	0.105760	0.64402	D	0.000008	T	0.14270	0.0345	L	0.29908	0.895	0.42436	D	0.992699	D	0.56287	0.975	P	0.44990	0.466	T	0.02661	-1.1127	10	0.72032	D	0.01	-14.3784	10.59	0.45304	0.0:0.7875:0.0:0.2125	.	1100	Q9UKJ3	GPTC8_HUMAN	M	1100;1022	ENSP00000395016:R1022M	ENSP00000335486:R1100M	R	-	2	0	GPATCH8	39831672	1.000000	0.71417	0.991000	0.47740	0.194000	0.23727	1.347000	0.33975	0.291000	0.22468	-0.143000	0.13931	AGG		0.532	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		A	42476146	C	A	42476146	3	1	582	1	0	0	0	0	1	0	0	0	6596	681	24	4	1213	4	GPATCH8	17	42476146	Missense_Mutation	SNP	C	TCGA-CZ-5452-01A-01D-1501-10		42476146	38719064	26	31874											
C3	718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6712358	6712358	+	Silent	SNP	G	G	A			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr19:6712358G>A	ENST00000245907.6	-	11	1271	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	393					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.G393G(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CAGTGTCCTCGCCCTGGACTG	0.617																																																1	Substitution - coding silent(1)	kidney(1)											148	102	117					19																	6712358		2203	4300	6503	SO:0001819	synonymous_variant	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1179C>T	19.37:g.6712358G>A			A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																				0.617	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		A	6712358	G	A	6712358	2	1	582	1	0	0	0	0	0	0	0	1	2206	1074	38	1		1	C3	19	6712358	Silent	SNP	G	TCGA-CZ-5452-01A-01D-1501-10		6712358	52416625	27	31875											
LIPE	3991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42912472	42912472	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr19:42912472G>C	ENST00000244289.4	-	3	1698	c.1422C>G	c.(1420-1422)ttC>ttG	p.F474L	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	474					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.F474L(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGCAGGCGTGAACTGTGGAG	0.617																																																1	Substitution - Missense(1)	kidney(1)											121	111	115					19																	42912472		2203	4300	6503	SO:0001583	missense	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1422C>G	19.37:g.42912472G>C	ENSP00000244289:p.Phe474Leu		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660955	0.47572	.	.	ENSG00000079435	ENST00000244289	T	0.41065	1.01	4.32	3.19	0.36642	Hormone-sensitive lipase, N-terminal (1);	0.074428	0.52532	D	0.000065	T	0.51856	0.1699	M	0.74647	2.275	0.48452	D	0.999651	P;P	0.52463	0.93;0.953	P;P	0.55391	0.625;0.775	T	0.53704	-0.8401	10	0.52906	T	0.07	-17.7996	6.6642	0.23031	0.0984:0.0:0.7212:0.1805	.	474;474	A8K8W7;Q05469	.;LIPS_HUMAN	L	474	ENSP00000244289:F474L	ENSP00000244289:F474L	F	-	3	2	LIPE	47604312	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	1.830000	0.39131	2.145000	0.66743	0.561000	0.74099	TTC		0.617	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		C	42912472	G	C	42912472	3	2	582	1	0	0	0	0	1	0	0	0	8823	1281	45	4	1840	4	LIPE	19	42912472	Missense_Mutation	SNP	G	TCGA-CZ-5452-01A-01D-1501-10	36200114	42912472	16216511	28	31876											
PSG3	5671	broad.mit.edu	37	19	43234081	43234081	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr19:43234081G>C	ENST00000327495.5	-	4	1021	c.837C>G	c.(835-837)agC>agG	p.S279R	PSG3_ENST00000595140.1_Missense_Mutation_p.S279R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	279	Ig-like C2-type 2.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S279R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGACCGGGAGGCTCTGACCAT	0.463																																																1	Substitution - Missense(1)	kidney(1)											84	93	90					19																	43234081		1510	2701	4211	SO:0001583	missense	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.837C>G	19.37:g.43234081G>C	ENSP00000332215:p.Ser279Arg		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.409765	0.00193	.	.	ENSG00000221826	ENST00000327495	T	0.12255	2.7	0.545	-1.09	0.09904	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14527	0.0351	M	0.69248	2.105	0.09310	N	1	B;B	0.21071	0.051;0.032	B;B	0.32724	0.12;0.151	T	0.44436	-0.9328	8	0.19590	T	0.45	.	.	.	.	.	257;279	Q08266;Q16557	.;PSG3_HUMAN	R	279	ENSP00000332215:S279R	ENSP00000332215:S279R	S	-	3	2	PSG3	47925921	0.037000	0.19845	0.022000	0.16811	0.008000	0.06430	0.194000	0.17135	-0.412000	0.07519	-0.751000	0.03497	AGC		0.463	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		C	43234081	G	C	43234081	3	2	582	1	0	0	0	0	1	0	0	0	12661	1194	42	4	461	4	PSG3	19	43234081	Missense_Mutation	SNP	G	TCGA-CZ-5452-01A-01D-1501-10	321609	43234081	15894902	29	31877											
PTOV1	53635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50358311	50358311	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr19:50358311T>A	ENST00000601675.1	+	5	639	c.535T>A	c.(535-537)Tgc>Agc	p.C179S	PTOV1_ENST00000599732.1_Missense_Mutation_p.C179S|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000221557.9_Missense_Mutation_p.C147S|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000600603.1_Missense_Mutation_p.C147S|PTOV1_ENST00000601638.1_Missense_Mutation_p.C147S|PTOV1_ENST00000391842.1_Missense_Mutation_p.C179S|AC018766.5_ENST00000593654.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.C179S(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CAAGGGGCTCTGCCGCATCAT	0.632																																																1	Substitution - Missense(1)	kidney(1)											38	32	34					19																	50358311		2202	4300	6502	SO:0001583	missense	53635			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.535T>A	19.37:g.50358311T>A	ENSP00000472816:p.Cys179Ser		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	37	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503807	0.44558	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.53	3.53	0.40419	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.240219	0.32258	N	0.006353	T	0.40743	0.1129	N	0.22421	0.69	0.38243	D	0.941378	B;P;B	0.48503	0.137;0.911;0.009	B;P;B	0.45343	0.18;0.477;0.078	T	0.37454	-0.9705	9	0.30078	T	0.28	-30.7162	12.01	0.53282	0.0:0.0:0.0:1.0	.	147;179;147	B4DG17;Q86YD1;Q86YD1-2	.;PTOV1_HUMAN;.	S	147;179	.	ENSP00000221557:C147S	C	+	1	0	PTOV1	55050123	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.065000	0.64344	1.847000	0.53656	0.460000	0.39030	TGC		0.632	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		A	50358311	T	A	50358311	3	1	582	1	0	0	0	0	1	0	0	0	12775	1580	55	5	553	5	PTOV1	19	50358311	Missense_Mutation	SNP	T	TCGA-CZ-5452-01A-01D-1501-10	7124230	50358311	8770672	30	31878											
ZNF160	90338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53577475	53577475	+	Silent	SNP	C	C	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr19:53577475C>T	ENST00000429604.1	-	6	604	c.189G>A	c.(187-189)ggG>ggA	p.G63G	ZNF160_ENST00000601421.1_Silent_p.G27G|ZNF160_ENST00000418871.1_Silent_p.G63G|ZNF160_ENST00000599056.1_Silent_p.G63G|ZNF160_ENST00000599729.1_5'Flank|ZNF160_ENST00000355147.5_Silent_p.G63G	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G63G(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGGGCTCTTTCCCTTCCTCCA	0.458																																																1	Substitution - coding silent(1)	kidney(1)											134	117	123					19																	53577475		2203	4300	6503	SO:0001819	synonymous_variant	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.189G>A	19.37:g.53577475C>T			Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	CCDS12859.1																																																																																				0.458	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		T	53577475	C	T	53577475	2	4	582	1	0	0	0	0	0	0	0	1	17744	842	30	2		2	ZNF160	19	53577475	Silent	SNP	C	TCGA-CZ-5452-01A-01D-1501-10	3219164	53577475	5551508	31	31879											
NLRP8	126205	broad.mit.edu;ucsc.edu	37	19	56467043	56467043	+	Missense_Mutation	SNP	G	G	T	rs372284254		TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr19:56467043G>T	ENST00000291971.3	+	3	1690	c.1619G>T	c.(1618-1620)cGc>cTc	p.R540L	NLRP8_ENST00000590542.1_Missense_Mutation_p.R540L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	540					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R540L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AATATCCAGCGCCTGATAGCG	0.463																																																1	Substitution - Missense(1)	kidney(1)											104	101	102					19																	56467043		2203	4300	6503	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1619G>T	19.37:g.56467043G>T	ENSP00000291971:p.Arg540Leu		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	0.065	-1.214990	0.01542	.	.	ENSG00000179709	ENST00000291971	D	0.87809	-2.3	2.04	-1.42	0.08913	.	.	.	.	.	T	0.73489	0.3593	N	0.21282	0.65	0.09310	N	1	B;B	0.23377	0.084;0.001	B;B	0.19391	0.025;0.003	T	0.56836	-0.7913	9	0.24483	T	0.36	.	5.0065	0.14291	0.5224:0.0:0.4776:0.0	.	540;540	Q86W28-2;Q86W28	.;NALP8_HUMAN	L	540	ENSP00000291971:R540L	ENSP00000291971:R540L	R	+	2	0	NLRP8	61158855	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.459000	0.06728	-0.281000	0.09141	-0.346000	0.07831	CGC		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		T	56467043	G	T	56467043	3	4	582	1	0	0	0	0	1	0	0	0	10485	1087	38	4	1629	4	NLRP8	19	56467043	Missense_Mutation	SNP	G	TCGA-CZ-5452-01A-01D-1501-10	2889568	56467043	2661940	32	31880											
ZNF543	125919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57838032	57838032	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr19:57838032C>G	ENST00000321545.4	+	3	522	c.177C>G	c.(175-177)taC>taG	p.Y59*		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y59*(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGCTGATCTACCAGTTGGATC	0.498																																																1	Substitution - Nonsense(1)	kidney(1)											86	79	81					19																	57838032		2203	4300	6503	SO:0001587	stop_gained	125919			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.177C>G	19.37:g.57838032C>G	ENSP00000322545:p.Tyr59*		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Nonsense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295372	0.81025	.	.	ENSG00000178229	ENST00000321545	.	.	.	2.4	-0.0443	0.13855	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0345	0.06117	0.0:0.5171:0.287:0.1959	.	.	.	.	X	59	.	ENSP00000322545:Y59X	Y	+	3	2	ZNF543	62529844	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	0.167000	0.16602	0.052000	0.16007	0.467000	0.42956	TAC		0.498	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		G	57838032	C	G	57838032	4	3	582	1	0	0	0	0	0	1	0	0	17981	518	18	4	187	4	ZNF543	19	57838032	Nonsense_Mutation	SNP	C	TCGA-CZ-5452-01A-01D-1501-10	1370989	57838032	1290951	33	31881											
RRBP1	6238	broad.mit.edu;ucsc.edu	37	20	17641024	17641024	+	Silent	SNP	G	G	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chr20:17641024G>T	ENST00000377813.1	-	3	432	c.129C>A	c.(127-129)gcC>gcA	p.A43A	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000246043.4_Silent_p.A43A|RRBP1_ENST00000377807.2_Silent_p.A43A|RRBP1_ENST00000360807.4_Silent_p.A43A			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	43					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.A43A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGCGCTGGTTGGCTAGGGCTT	0.463																																																2	Substitution - coding silent(2)	kidney(2)											87	74	78					20																	17641024		2203	4300	6503	SO:0001819	synonymous_variant	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.129C>A	20.37:g.17641024G>T			A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37																																																																																					0.463	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		T	17641024	G	T	17641024	2	4	582	1	0	0	0	0	0	0	0	1	13684	1335	47	4		4	RRBP1	20	17641024	Silent	SNP	G	TCGA-CZ-5452-01A-01D-1501-10		17641024	45384496	34	31882											
OTC	5009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	38262963	38262963	+	Silent	SNP	C	C	T			TCGA-CZ-5452-01A-01D-1501-10	TCGA-CZ-5452-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	96bd68cb-5d8e-4de1-88ca-5f30fbdde036	fdf88258-9b8a-434a-b396-df5242420b20	g.chrX:38262963C>T	ENST00000039007.4	+	6	785	c.633C>T	c.(631-633)ttC>ttT	p.F211F	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	211					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.F211F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CAGCGAAATTCGGAATGCACC	0.468																																																1	Substitution - coding silent(1)	kidney(1)											106	85	92					X																	38262963		2202	4300	6502	SO:0001819	synonymous_variant	5009			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.633C>T	X.37:g.38262963C>T			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Silent	SNP	ENST00000039007.4	37	CCDS14247.1																																																																																				0.468	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			T	38262963	C	T	38262963	2	4	582	1	0	0	0	0	0	0	0	1	11303	883	31	1		1	OTC	23	38262963	Silent	SNP	C	TCGA-CZ-5452-01A-01D-1501-10		38262963	117007597	35	31883											
GALE	11313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24124241	24124241	+	IGR	SNP	C	C	G	rs374106365		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:24124241C>G	ENST00000374514.3	+	0	1810				GALE_ENST00000470383.1_5'Flank|GALE_ENST00000374497.3_Missense_Mutation_p.G158R	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.G158R(1)		endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TTGGACTTGCCGTAAGGGTTG	0.592																																																1	Substitution - Missense(1)	kidney(1)											78	75	76					1																	24124241		2203	4300	6503	SO:0001628	intergenic_variant	2582			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24124241C>G			Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	CCDS241.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778885	0.90195	.	.	ENSG00000117308	ENST00000374498;ENST00000374497;ENST00000429356;ENST00000418277;ENST00000425913;ENST00000445705	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	4.72	4.72	0.59763	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	H	0.99851	4.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99771	1.1024	10	0.87932	D	0	-16.8659	17.4675	0.87637	0.0:1.0:0.0:0.0	.	84;94;158;158	B3KQ39;E9PH43;Q38G75;Q14376	.;.;.;GALE_HUMAN	R	94;158;94;94;158;158	ENSP00000363621:G158R;ENSP00000398585:G94R;ENSP00000414719:G94R;ENSP00000393359:G158R;ENSP00000398257:G158R	ENSP00000363621:G158R	G	-	1	0	GALE	23996828	1.000000	0.71417	0.959000	0.39883	0.945000	0.59286	7.265000	0.78442	2.457000	0.83068	0.655000	0.94253	GGC		0.592	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			G	24124241	C	G	24124241	1	3	583	0	1	0	0	0	0	0	0	0	6204	652	23	4		4	GALE	1	24124241	IGR	SNP	C	TCGA-CZ-5453-01A-01D-1501-10		24124241	225126380	1	31884											
RUNX3	864	broad.mit.edu	37	1	25229102	25229102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:25229102delG	ENST00000308873.6	-	5	767	c.759delC	c.(757-759)cccfs	p.P253fs	RUNX3_ENST00000399916.1_Frame_Shift_Del_p.P267fs|RUNX3_ENST00000540420.1_Frame_Shift_Del_p.P160fs|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000338888.3_Frame_Shift_Del_p.P267fs	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	253	Pro/Ser/Thr-rich.			P -> S (in Ref. 2; CAA56093). {ECO:0000305}.	axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TTGGCAGCGTGGGGAAGGAGC	0.647																																																0													78	77	77					1																	25229102		2190	4288	6478	SO:0001589	frameshift_variant	864			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.759delC	1.37:g.25229102delG	ENSP00000308051:p.Pro253fs		B1AJV5|Q12969|Q13760	Frame_Shift_Del	DEL	ENST00000308873.6	37	CCDS257.1																																																																																				0.647	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		-	25229102	G	-	25229102	7	5	583	1	0	1	0	1	0	0	0	0	13755	1335	47	0	492	0	RUNX3	1	25229102	Frame_Shift_Del	DEL	G	TCGA-CZ-5453-01A-01D-1501-10	1104861	25229102	224021519	2	31885											
CLSPN	63967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36214086	36214086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:36214086delT	ENST00000318121.3	-	13	2449	c.2392delA	c.(2392-2394)agtfs	p.S798fs	CLSPN_ENST00000373220.3_Frame_Shift_Del_p.S734fs|CLSPN_ENST00000520551.1_Frame_Shift_Del_p.S745fs|CLSPN_ENST00000251195.5_Frame_Shift_Del_p.S798fs	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	798					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGGAAAAAACTGGTCCCACGG	0.483																																																0													128	128	128					1																	36214086		2203	4300	6503	SO:0001589	frameshift_variant	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2392delA	1.37:g.36214086delT	ENSP00000312995:p.Ser798fs		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Frame_Shift_Del	DEL	ENST00000318121.3	37	CCDS396.1																																																																																				0.483	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		-	36214086	T	-	36214086	7	5	583	1	0	1	0	1	0	0	0	0	3562	1580	55	0	1679	0	CLSPN	1	36214086	Frame_Shift_Del	DEL	T	TCGA-CZ-5453-01A-01D-1501-10	10984984	36214086	213036535	3	31886											
IPO13	9670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44422057	44422057	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:44422057C>T	ENST00000372343.3	+	3	1549	c.887C>T	c.(886-888)gCa>gTa	p.A296V	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	296					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A296V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGCGGCAGGCAGTGCAGAAT	0.587																																																1	Substitution - Missense(1)	kidney(1)											71	66	68					1																	44422057		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.887C>T	1.37:g.44422057C>T	ENSP00000361418:p.Ala296Val		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528643	0.85706	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.51	4.59	0.56863	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76076	0.3937	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.76377	-0.2981	9	0.48119	T	0.1	-4.5085	14.7122	0.69241	0.0:0.9291:0.0:0.0709	.	296	O94829	IPO13_HUMAN	V	296	.	ENSP00000361418:A296V	A	+	2	0	IPO13	44194644	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.039000	0.70972	2.606000	0.88127	0.511000	0.50034	GCA		0.587	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		T	44422057	C	T	44422057	3	4	583	1	0	0	0	0	1	0	0	0	7796	710	25	2	897	2	IPO13	1	44422057	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	8207971	44422057	204828564	4	31887											
OSBPL9	114883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	52249639	52249639	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:52249639T>A	ENST00000428468.1	+	18	1568	c.1566T>A	c.(1564-1566)caT>caA	p.H522Q	OSBPL9_ENST00000361556.5_Missense_Mutation_p.H412Q|OSBPL9_ENST00000453295.1_Missense_Mutation_p.H505Q|OSBPL9_ENST00000435686.2_Missense_Mutation_p.H357Q|OSBPL9_ENST00000530544.1_Missense_Mutation_p.H441Q|OSBPL9_ENST00000462759.1_Missense_Mutation_p.H344Q|OSBPL9_ENST00000371710.3_Missense_Mutation_p.H540Q|OSBPL9_ENST00000337809.4_Missense_Mutation_p.H527Q|OSBPL9_ENST00000447887.1_Missense_Mutation_p.H532Q|OSBPL9_ENST00000486942.1_Missense_Mutation_p.H344Q|OSBPL9_ENST00000371714.1_Missense_Mutation_p.H509Q|OSBPL9_ENST00000531828.1_Missense_Mutation_p.H357Q			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	522					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.H532Q(2)|p.H412Q(1)|p.H522Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCAATGCTCATATCTGGACCA	0.378																																																4	Substitution - Missense(4)	kidney(4)											93	92	92					1																	52249639		2203	4300	6503	SO:0001583	missense	114883			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1566T>A	1.37:g.52249639T>A	ENSP00000407168:p.His522Gln		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937529	0.73557	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.24	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D	0.89917	0.987;0.999;0.999;0.998;1.0	D;D;D;D;D	0.75484	0.985;0.986;0.979;0.979;0.984	T	0.57493	-0.7802	10	0.87932	D	0	-14.1619	6.2221	0.20687	0.0:0.372:0.0:0.628	.	505;412;538;522;527	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	Q	509;540;527;532;357;522;505;441;357;412;344;344	ENSP00000360779:H509Q;ENSP00000360775:H540Q;ENSP00000337265:H527Q;ENSP00000412733:H532Q;ENSP00000402646:H357Q;ENSP00000407168:H522Q;ENSP00000413263:H505Q;ENSP00000433675:H441Q;ENSP00000433083:H357Q;ENSP00000354970:H412Q;ENSP00000433279:H344Q;ENSP00000431980:H344Q	ENSP00000337265:H527Q	H	+	3	2	OSBPL9	52022227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.617000	0.36943	1.022000	0.39626	0.454000	0.30748	CAT		0.378	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			A	52249639	T	A	52249639	3	1	583	1	0	0	0	0	1	0	0	0	11286	1403	49	5	1740	5	OSBPL9	1	52249639	Missense_Mutation	SNP	T	TCGA-CZ-5453-01A-01D-1501-10	7827582	52249639	197000982	5	31888											
POLR3C	10623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	145597524	145597524	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:145597524C>T	ENST00000334163.3	-	10	1220	c.1060G>A	c.(1060-1062)Gta>Ata	p.V354I	POLR3C_ENST00000471254.1_5'Flank|POLR3C_ENST00000369294.1_Missense_Mutation_p.V354I	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	354					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.V354I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CTCTCCTGTACGACGGACTCC	0.448																																																1	Substitution - Missense(1)	kidney(1)											141	120	127					1																	145597524		2203	4300	6503	SO:0001583	missense	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1060G>A	1.37:g.145597524C>T	ENSP00000334564:p.Val354Ile		O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	CCDS921.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240327	0.39598	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.52754	0.65;0.75	5.76	-0.49	0.12049	.	0.180272	0.48286	N	0.000192	T	0.11153	0.0272	L	0.31578	0.945	0.39238	D	0.963809	B;B;B	0.16166	0.016;0.013;0.01	B;B;B	0.14023	0.003;0.006;0.01	T	0.27468	-1.0073	10	0.07482	T	0.82	-6.2956	8.7912	0.34852	0.0:0.5053:0.0:0.4947	.	354;354;354	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	I	354	ENSP00000334564:V354I;ENSP00000358300:V354I	ENSP00000334564:V354I	V	-	1	0	POLR3C	144308881	0.994000	0.37717	0.051000	0.19133	0.800000	0.45204	2.728000	0.47319	-0.255000	0.09486	-0.136000	0.14681	GTA		0.448	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		T	145597524	C	T	145597524	3	4	583	1	0	0	0	0	1	0	0	0	12232	536	19	1	568	1	POLR3C	1	145597524	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	93347885	145597524	103653097	6	31889											
PBXIP1	57326	broad.mit.edu;hgsc.bcm.edu	37	1	154920626	154920626	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:154920626C>T	ENST00000368463.3	-	6	697	c.626G>A	c.(625-627)gGg>gAg	p.G209E	PBXIP1_ENST00000368465.1_Missense_Mutation_p.G180E|PBXIP1_ENST00000539880.1_Missense_Mutation_p.G36E|PBXIP1_ENST00000542459.1_Missense_Mutation_p.G54E|PBXIP1_ENST00000368460.3_Intron|PBXIP1_ENST00000498553.1_5'UTR	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	209					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.G209E(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGGAGGACCCCCAGGCCAAG	0.627																																																1	Substitution - Missense(1)	kidney(1)											57	49	52					1																	154920626		2202	4300	6502	SO:0001583	missense	57326			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.626G>A	1.37:g.154920626C>T	ENSP00000357448:p.Gly209Glu		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465343	0.63513	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000542459	T;T;T;T	0.61274	0.12;0.3;0.8;0.66	4.64	4.64	0.57946	.	0.154812	0.39759	N	0.001268	T	0.69450	0.3112	M	0.71581	2.175	0.42374	D	0.992465	D	0.89917	1.0	D	0.97110	1.0	T	0.73895	-0.3838	10	0.87932	D	0	-29.9244	15.0333	0.71725	0.0:1.0:0.0:0.0	.	209	Q96AQ6	PBIP1_HUMAN	E	180;209;209;36;54	ENSP00000357450:G180E;ENSP00000357448:G209E;ENSP00000440142:G36E;ENSP00000438584:G54E	ENSP00000295523:G209E	G	-	2	0	PBXIP1	153187250	0.976000	0.34144	0.983000	0.44433	0.530000	0.34684	2.755000	0.47540	2.390000	0.81377	0.563000	0.77884	GGG		0.627	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		T	154920626	C	T	154920626	3	4	583	1	0	0	0	0	1	0	0	0	11498	623	22	2	1593	2	PBXIP1	1	154920626	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	9323102	154920626	94329995	7	31890											
FCGR3B	2214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161595993	161595993	+	Intron	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:161595993C>T	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000531221.1_Silent_p.R209R|FCGR3B_ENST00000367964.2_Silent_p.R173R|FCGR3B_ENST00000294800.3_Silent_p.R173R			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R173R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAACAAGCCCCCTGCAGAAGT	0.463																																																1	Substitution - coding silent(1)	kidney(1)											105	114	111					1																	161595993		2200	4300	6500	SO:0001627	intron_variant	2215			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+4164G>A	1.37:g.161595993C>T			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000540048.1	37		.	.	.	.	.	.	.	.	.	.	-	4.634	0.117934	0.08881	.	.	ENSG00000162747	ENST00000421702	.	.	.	2.47	-1.31	0.09230	.	.	.	.	.	T	0.07548	0.0190	.	.	.	0.25913	N	0.983211	.	.	.	.	.	.	T	0.34279	-0.9835	4	.	.	.	.	2.0161	0.03498	0.2576:0.3787:0.0:0.3637	.	.	.	.	R	194	.	.	G	-	1	0	FCGR3B	159862617	0.002000	0.14202	0.728000	0.30774	0.087000	0.18053	-0.841000	0.04359	-0.036000	0.13669	-0.515000	0.04445	GGG		0.463	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		T	161595993	C	T	161595993	1	4	583	0	1	0	0	0	0	0	0	0	5787	622	22	2		2	FCGR3B	1	161595993	Intron	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	6675367	161595993	87654628	8	31891											
EPHX1	2052	broad.mit.edu;ucsc.edu	37	1	226030115	226030115	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:226030115A>G	ENST00000366837.4	+	7	1176	c.980A>G	c.(979-981)gAg>gGg	p.E327G	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.E327G	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	327					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.E327G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TATATTCTAGAGAAGTTTTCC	0.592																																																1	Substitution - Missense(1)	kidney(1)											124	135	131					1																	226030115		2203	4300	6503	SO:0001583	missense	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.980A>G	1.37:g.226030115A>G	ENSP00000355802:p.Glu327Gly		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.913371	0.92178	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.22945	1.93;1.93	5.19	5.19	0.71726	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70673	-0.4807	10	0.87932	D	0	-15.5744	15.3501	0.74376	1.0:0.0:0.0:0.0	.	327	P07099	HYEP_HUMAN	G	327	ENSP00000272167:E327G;ENSP00000355802:E327G	ENSP00000272167:E327G	E	+	2	0	EPHX1	224096738	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.187000	0.94912	2.082000	0.62665	0.459000	0.35465	GAG		0.592	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		G	226030115	A	G	226030115	3	3	583	1	0	0	0	0	1	0	0	0	5181	304	11	3	1002	3	EPHX1	1	226030115	Missense_Mutation	SNP	A	TCGA-CZ-5453-01A-01D-1501-10	64434122	226030115	23220506	9	31892											
HADHB	3032	broad.mit.edu;ucsc.edu	37	2	26502013	26502013	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr2:26502013T>C	ENST00000317799.5	+	9	745	c.641T>C	c.(640-642)gTt>gCt	p.V214A	HADHB_ENST00000545822.1_Missense_Mutation_p.V192A|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Missense_Mutation_p.V199A|HADHB_ENST00000405867.3_Intron	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	214					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.V214A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCCTGCGGTTTCTGAGTTC	0.507																																																1	Substitution - Missense(1)	kidney(1)											89	88	89					2																	26502013		2203	4300	6503	SO:0001583	missense	3032				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.641T>C	2.37:g.26502013T>C	ENSP00000325136:p.Val214Ala		B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957904	0.73902	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.87412	-2.25;-2.25;-2.25	5.69	5.69	0.88448	Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	M	0.68728	2.09	0.80722	D	1	D;D;D	0.65815	0.994;0.961;0.995	D;P;D	0.68353	0.928;0.852;0.957	D	0.92857	0.6302	10	0.72032	D	0.01	-25.0495	15.0712	0.72040	0.0:0.0:0.0:1.0	.	199;192;214	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	A	214;199;192	ENSP00000325136:V214A;ENSP00000444295:V199A;ENSP00000442665:V192A	ENSP00000325136:V214A	V	+	2	0	HADHB	26355517	1.000000	0.71417	0.724000	0.30704	0.351000	0.29236	7.685000	0.84117	2.291000	0.77112	0.533000	0.62120	GTT		0.507	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		C	26502013	T	C	26502013	3	2	583	1	0	0	0	0	1	0	0	0	6946	1725	60	3	671	3	HADHB	2	26502013	Missense_Mutation	SNP	T	TCGA-CZ-5453-01A-01D-1501-10		26502013	216697360	10	31893											
CAD	790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27456649	27456649	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr2:27456649C>T	ENST00000403525.1	+	20	3327	c.3183C>T	c.(3181-3183)gtC>gtT	p.V1061V	CAD_ENST00000264705.4_Silent_p.V1124V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.V1124V(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCGTGGTCATCTCCAAGT	0.587																																																1	Substitution - coding silent(1)	kidney(1)											53	55	54					2																	27456649		2203	4300	6503	SO:0001819	synonymous_variant	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3183C>T	2.37:g.27456649C>T			O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37																																																																																					0.587	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			T	27456649	C	T	27456649	2	4	583	1	0	0	0	0	0	0	0	1	2567	813	29	2		2	CAD	2	27456649	Silent	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	954636	27456649	215742724	11	31894											
TANK	10010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	162091890	162091890	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr2:162091890C>T	ENST00000392749.2	+	8	1378	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L	TANK_ENST00000405852.1_Missense_Mutation_p.R406W|TANK_ENST00000259075.2_Missense_Mutation_p.S380L|AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000402568.1_3'UTR|TANK_ENST00000406287.1_3'UTR	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	380					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.S380L(3)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GACAGTGACTCGGTGGTACTA	0.418																																																3	Substitution - Missense(3)	large_intestine(2)|kidney(1)											172	164	167					2																	162091890		2203	4300	6503	SO:0001583	missense	10010			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1139C>T	2.37:g.162091890C>T	ENSP00000376505:p.Ser380Leu		D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	CCDS2215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.058|5.058	0.196409|0.196409	0.09599|0.09599	.|.	.|.	ENSG00000136560|ENSG00000136560	ENST00000405852|ENST00000259075;ENST00000392749;ENST00000439442	T|T;T;T	0.35605|0.19806	1.3|2.12;2.12;2.18	5.63|5.63	4.38|4.38	0.52667|0.52667	.|.	.|0.153629	.|0.42294	.|N	.|0.000723	T|T	0.05777|0.05777	0.0151|0.0151	N|N	0.00960|0.00960	-1.095|-1.095	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.26985|0.26985	-1.0087|-1.0087	7|10	0.51188|0.02654	T|T	0.08|1	-4.8203|-4.8203	10.3619|10.3619	0.43998|0.43998	0.0:0.0855:0.0:0.9145|0.0:0.0855:0.0:0.9145	.|.	.|380	.|Q92844	.|TANK_HUMAN	W|L	406|380;380;153	ENSP00000385487:R406W|ENSP00000259075:S380L;ENSP00000376505:S380L;ENSP00000387439:S153L	ENSP00000385487:R406W|ENSP00000259075:S380L	R|S	+|+	1|2	2|0	TANK|TANK	161800136|161800136	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.864000|0.864000	0.49448|0.49448	2.765000|2.765000	0.47621|0.47621	0.845000|0.845000	0.35118|0.35118	-0.218000|-0.218000	0.12543|0.12543	CGG|TCG		0.418	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		T	162091890	C	T	162091890	3	4	583	1	0	0	0	0	1	0	0	0	15551	893	31	1	1198	1	TANK	2	162091890	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	134635241	162091890	81107483	12	31895											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52677265	52677265	+	Splice_Site	DEL	G	G	-	rs374515597		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr3:52677265delG	ENST00000296302.7	-	9	995	c.994delC	c.(994-996)cgt>gt	p.R332fs	PBRM1_ENST00000409057.1_Splice_Site_p.R332fs|PBRM1_ENST00000409114.3_Splice_Site_p.R332fs|PBRM1_ENST00000409767.1_Splice_Site_p.R332fs|PBRM1_ENST00000410007.1_Splice_Site_p.R332fs|PBRM1_ENST00000337303.4_Splice_Site_p.R332fs|PBRM1_ENST00000394830.3_Splice_Site_p.R332fs|PBRM1_ENST00000356770.4_Intron			Q86U86	PB1_HUMAN	polybromo 1	332					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTTCTCACCGGTAATACTTG	0.443			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													166	158	161					3																	52677265		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.995+1C>-	3.37:g.52677265delG			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.443	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Frame_Shift_Del	-	52677265	G	-	52677265	8	5	583	1	0	1	0	1	0	0	1	0	11493	1130	39	0	3994	0	PBRM1	3	52677265	Splice_Site	DEL	G	TCGA-CZ-5453-01A-01D-1501-10		52677265	145345165	13	31896											
SLMAP	7871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	57913033	57913033	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr3:57913033C>G	ENST00000428312.1	+	22	2499	c.2405C>G	c.(2404-2406)cCc>cGc	p.P802R	SLMAP_ENST00000295952.3_Missense_Mutation_p.P785R|SLMAP_ENST00000449503.2_Missense_Mutation_p.P764R|SLMAP_ENST00000442599.2_Missense_Mutation_p.P270R|SLMAP_ENST00000494088.1_3'UTR|SLMAP_ENST00000295951.3_Missense_Mutation_p.P785R|SLMAP_ENST00000495364.1_Missense_Mutation_p.P336R			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	802					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)		p.P785R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AAACCCTGGCCCTGGATGCCC	0.517																																																1	Substitution - Missense(1)	kidney(1)											100	81	87					3																	57913033		2203	4300	6503	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.2405C>G	3.37:g.57913033C>G	ENSP00000398661:p.Pro802Arg		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37		.	.	.	.	.	.	.	.	.	.	C	15.76	2.929809	0.52759	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364	T;T;T;T;T;T	0.44881	1.49;1.49;1.5;1.47;0.91;0.92	5.28	5.28	0.74379	.	0.443736	0.25897	N	0.027591	T	0.61602	0.2360	L	0.51422	1.61	0.80722	D	1	D;D;D;P	0.89917	0.986;0.999;1.0;0.774	P;D;D;B	0.85130	0.878;0.952;0.997;0.211	T	0.62599	-0.6820	10	0.66056	D	0.02	-5.2539	19.2726	0.94016	0.0:1.0:0.0:0.0	.	270;764;802;785	C9JPE6;Q14BN4-2;Q14BN4;Q14BN4-3	.;.;SLMAP_HUMAN;.	R	785;785;802;764;425;270;336	ENSP00000295951:P785R;ENSP00000295952:P785R;ENSP00000398661:P802R;ENSP00000412945:P764R;ENSP00000388978:P270R;ENSP00000419543:P336R	ENSP00000295951:P785R	P	+	2	0	SLMAP	57888073	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.993000	0.76245	2.619000	0.88677	0.655000	0.94253	CCC		0.517	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		G	57913033	C	G	57913033	3	3	583	1	0	0	0	0	1	0	0	0	14755	623	22	4	2436	4	SLMAP	3	57913033	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	5235768	57913033	140109397	14	31897											
SLC9A10	285335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	111923204	111923204	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr3:111923204A>C	ENST00000305815.5	-	17	2285	c.2033T>G	c.(2032-2034)tTc>tGc	p.F678C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.F630C	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	678	Ion transport-like.				cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.F678C(1)									TGCTAACTCGAATATGTTCCA	0.294																																																1	Substitution - Missense(1)	kidney(1)											132	132	132					3																	111923204		2202	4297	6499	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2033T>G	3.37:g.111923204A>C	ENSP00000306627:p.Phe678Cys		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903123	0.33628	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.97850	-4.57;-4.57	5.58	5.58	0.84498	.	0.202328	0.35495	N	0.003178	D	0.98701	0.9564	M	0.89163	3.01	0.30038	N	0.812854	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.936	D	0.97053	0.9765	10	0.87932	D	0	.	12.1497	0.54044	1.0:0.0:0.0:0.0	.	630;678	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	C	678;630	ENSP00000306627:F678C;ENSP00000420688:F630C	ENSP00000306627:F678C	F	-	2	0	SLC9A10	113405894	1.000000	0.71417	0.253000	0.24343	0.012000	0.07955	4.712000	0.61888	2.114000	0.64651	0.379000	0.24179	TTC		0.294	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		C	111923204	A	C	111923204	3	2	583	1	0	0	0	0	1	0	0	0	14716	246	9	5	1552	5	SLC9A10	3	111923204	Missense_Mutation	SNP	A	TCGA-CZ-5453-01A-01D-1501-10	54010171	111923204	86099226	15	31898											
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130394072	130394072	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr3:130394072delC	ENST00000358511.6	+	36	6654	c.6623delC	c.(6622-6624)accfs	p.T2208fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.T2208fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2208	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTTAAAGCTACCCTCAAAGAA	0.313																																																0													55	48	50					3																	130394072		1827	4079	5906	SO:0001589	frameshift_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6623delC	3.37:g.130394072delC	ENSP00000351310:p.Thr2208fs		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	CCDS46911.1																																																																																				0.313	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		-	130394072	C	-	130394072	7	5	583	1	0	1	0	1	0	0	0	0	3705	507	18	0	6765	0	COL6A6	3	130394072	Frame_Shift_Del	DEL	C	TCGA-CZ-5453-01A-01D-1501-10	18470868	130394072	67628358	16	31899											
BOD1L	259282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	13601273	13601274	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr4:13601273_13601274delAG	ENST00000040738.5	-	10	7385_7386	c.7250_7251delCT	c.(7249-7251)tctfs	p.S2417fs		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2417						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTGCCCTGCAGAGGGCTTGTG	0.584																																																0																																										SO:0001589	frameshift_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7250_7251delCT	4.37:g.13601275_13601276delAG	ENSP00000040738:p.Ser2417fs		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Frame_Shift_Del	DEL	ENST00000040738.5	37	CCDS3411.2																																																																																				0.584	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		-	13601274	AG	-	13601273	7	5	583	1	0	1	0	1	0	0	0	0	1483	175	7	0	1972	0	BOD1L	4	13601273	Frame_Shift_Del	DEL	AG	TCGA-CZ-5453-01A-01D-1501-10		13601273	177553003	17	31900											
TMPRSS11F	389208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	68995527	68995527	+	Splice_Site	SNP	C	C	T	rs148740696		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr4:68995527C>T	ENST00000356291.2	-	1	71		c.e1+1			NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.?(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGAATACTTACGCGTACATCA	0.443																																																2	Unknown(2)	endometrium(1)|kidney(1)											129	111	117					4																	68995527		2203	4300	6503	SO:0001630	splice_region_variant	389208			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.11+1G>A	4.37:g.68995527C>T			A8MXX2	Splice_Site	SNP	ENST00000356291.2	37	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780412	0.31502	.	.	ENSG00000198092	ENST00000356291	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2005	0.65699	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMPRSS11F	68678122	0.999000	0.42202	0.998000	0.56505	0.347000	0.29111	3.221000	0.51215	2.727000	0.93392	0.650000	0.86243	.		0.443	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	Intron	T	68995527	C	T	68995527	5	4	583	1	0	0	0	0	0	0	1	0	16248	550	19	1	1344	1	TMPRSS11F	4	68995527	Splice_Site	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	55394254	68995527	122158749	18	31901											
TSPAN5	10098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	99407929	99407929	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr4:99407929C>T	ENST00000305798.3	-	3	641	c.239G>A	c.(238-240)tGc>tAc	p.C80Y	TSPAN5_ENST00000505184.1_Missense_Mutation_p.C9Y|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	80					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)	p.C80Y(2)		kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CGCTCCAATGCACCCTGCAAA	0.483																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											165	153	157					4																	99407929		2203	4300	6503	SO:0001583	missense	10098				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"Tetraspanins"	17753	protein-coding gene	gene with protein product		613136	"transmembrane 4 superfamily member 9"	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.239G>A	4.37:g.99407929C>T	ENSP00000307701:p.Cys80Tyr		B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900871	0.52227	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287;ENST00000511651	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.51	5.51	0.81932	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94095	0.8107	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.95137	0.8260	10	0.87932	D	0	.	19.614	0.95622	0.0:1.0:0.0:0.0	.	80	P62079	TSN5_HUMAN	Y	80;9;9;9	ENSP00000307701:C80Y;ENSP00000423916:C9Y;ENSP00000423504:C9Y;ENSP00000426248:C9Y	ENSP00000307701:C80Y	C	-	2	0	TSPAN5	99626952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.495000	0.81514	2.873000	0.98535	0.561000	0.74099	TGC		0.483	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		T	99407929	C	T	99407929	3	4	583	1	0	0	0	0	1	0	0	0	16655	710	25	2	591	2	TSPAN5	4	99407929	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	30412402	99407929	91746347	19	31902											
BRD9	65980	broad.mit.edu;hgsc.bcm.edu	37	5	891953	891953	+	Silent	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:891953G>A	ENST00000467963.1	-	2	235	c.69C>T	c.(67-69)ccC>ccT	p.P23P	BRD9_ENST00000323510.4_5'Flank|BRD9_ENST00000483173.1_5'UTR|TRIP13_ENST00000166345.3_5'Flank|BRD9_ENST00000388890.4_5'Flank|BRD9_ENST00000435709.2_5'UTR	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	23					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.P23P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCTTCTCCAGGGGCTTGTCGG	0.557																																																1	Substitution - coding silent(1)	kidney(1)											72	64	66					5																	891953		692	1591	2283	SO:0001819	synonymous_variant	65980			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.69C>T	5.37:g.891953G>A			A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	CCDS34127.2																																																																																				0.557	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		A	891953	G	A	891953	2	1	583	1	0	0	0	0	0	0	0	1	1509	1219	43	2		2	BRD9	5	891953	Silent	SNP	G	TCGA-CZ-5453-01A-01D-1501-10		891953	180023307	20	31903											
NNT	23530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43702815	43702815	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:43702815C>A	ENST00000264663.5	+	21	3309	c.3088C>A	c.(3088-3090)Ctt>Att	p.L1030I	NNT_ENST00000512996.2_Missense_Mutation_p.L899I|NNT_ENST00000344920.4_Missense_Mutation_p.L1030I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1030					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.L1030I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CATGCCAGTCCTTGAGGTCTG	0.363																																																1	Substitution - Missense(1)	kidney(1)											78	73	75					5																	43702815		2203	4300	6503	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.3088C>A	5.37:g.43702815C>A	ENSP00000264663:p.Leu1030Ile		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809776	0.70797	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.93366	-3.21;-3.21;-3.21	5.95	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	L	0.54863	1.705	0.53005	D	0.999964	D	0.65815	0.995	D	0.74348	0.983	D	0.93650	0.6972	10	0.33940	T	0.23	-14.0263	15.7667	0.78131	0.0:0.9234:0.0:0.0766	.	1030	Q13423	NNTM_HUMAN	I	545;1030;1030;899	ENSP00000264663:L1030I;ENSP00000343873:L1030I;ENSP00000426343:L899I	ENSP00000264663:L1030I	L	+	1	0	NNT	43738572	0.998000	0.40836	0.999000	0.59377	0.999000	0.98932	3.758000	0.55220	2.824000	0.97209	0.655000	0.94253	CTT		0.363	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		A	43702815	C	A	43702815	3	1	583	1	0	0	0	0	1	0	0	0	10512	681	24	4	3166	4	NNT	5	43702815	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	42810862	43702815	137212445	21	31904											
GPR98	84059	broad.mit.edu;hgsc.bcm.edu	37	5	90149227	90149227	+	Silent	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:90149227A>G	ENST00000405460.2	+	80	17427	c.17331A>G	c.(17329-17331)ctA>ctG	p.L5777L	GPR98_ENST00000425867.2_Silent_p.L1438L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5777					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L5777L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGAGGCTACTGGATGTCC	0.398																																																1	Substitution - coding silent(1)	kidney(1)											71	69	70					5																	90149227		1870	4100	5970	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17331A>G	5.37:g.90149227A>G			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																				0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		G	90149227	A	G	90149227	2	3	583	1	0	0	0	0	0	0	0	1	6723	378	14	3		3	GPR98	5	90149227	Silent	SNP	A	TCGA-CZ-5453-01A-01D-1501-10	46446412	90149227	90766033	22	31905											
SLCO4C1	353189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	101592957	101592957	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:101592957G>C	ENST00000310954.6	-	8	1617	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.S444*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCTGAATTTTGAAACAAGGAA	0.363																																																1	Substitution - Nonsense(1)	kidney(1)											86	87	87					5																	101592957		2203	4300	6503	SO:0001587	stop_gained	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1331C>G	5.37:g.101592957G>C	ENSP00000309741:p.Ser444*			Nonsense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	41	8.626777	0.98890	.	.	ENSG00000173930	ENST00000310954	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.9918	0.97368	0.0:0.0:1.0:0.0	.	.	.	.	X	444	.	ENSP00000309741:S444X	S	-	2	0	SLCO4C1	101620856	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.960000	0.76036	2.728000	0.93425	0.585000	0.79938	TCA		0.363	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		C	101592957	G	C	101592957	4	2	583	1	0	0	0	0	0	1	0	0	14736	1294	45	4	867	4	SLCO4C1	5	101592957	Nonsense_Mutation	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	11443730	101592957	79322303	23	31906											
REEP2	51308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137776732	137776732	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:137776732C>T	ENST00000254901.5	+	2	182	c.60C>T	c.(58-60)gcC>gcT	p.A20A	REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000378339.2_Silent_p.A20A|REEP2_ENST00000506158.1_5'UTR	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	20					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.A20A(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGTACCCAGCCTATTCTTCCT	0.577																																																1	Substitution - coding silent(1)	kidney(1)											101	87	91					5																	137776732		2203	4300	6503	SO:0001819	synonymous_variant	51308			AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"Receptor accessory proteins"	17975	protein-coding gene	gene with protein product		609347	"chromosome 5 open reading frame 19"	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.60C>T	5.37:g.137776732C>T			Q53EM8|Q9NYF2	Silent	SNP	ENST00000254901.5	37	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561753	0.27915	.	.	ENSG00000132563	ENST00000512126	.	.	.	5.05	3.22	0.36961	.	.	.	.	.	T	0.60287	0.2257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57831	-0.7743	4	.	.	.	-8.1994	10.6924	0.45879	0.0:0.5667:0.3618:0.0715	.	.	.	.	L	58	.	.	P	+	2	0	REEP2	137804631	0.568000	0.26635	1.000000	0.80357	0.995000	0.86356	-0.219000	0.09228	1.260000	0.44134	0.561000	0.74099	CCT		0.577	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		T	137776732	C	T	137776732	2	4	583	1	0	0	0	0	0	0	0	1	13211	668	24	2		2	REEP2	5	137776732	Silent	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	36183775	137776732	43138528	24	31907											
LARP1	23367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154181675	154181676	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:154181675_154181676delTT	ENST00000336314.4	+	11	1618_1619	c.1594_1595delTT	c.(1594-1596)tttfs	p.F532fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	609					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGATTTTCTGTTTGACGAGGAG	0.515																																																0																																										SO:0001589	frameshift_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1594_1595delTT	5.37:g.154181675_154181676delTT	ENSP00000336721:p.Phe532fs		O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																				0.515	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		-	154181676	TT	-	154181675	7	5	583	1	0	1	0	1	0	0	0	0	8630	1725	60	0	1636	0	LARP1	5	154181675	Frame_Shift_Del	DEL	TT	TCGA-CZ-5453-01A-01D-1501-10	16404943	154181675	26733585	25	31908											
STC2	8614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	172745139	172745139	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:172745139A>G	ENST00000265087.4	-	4	1929	c.620T>C	c.(619-621)aTc>aCc	p.I207T	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	207					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.I207T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAAGCTCAAGATGGAGCACAG	0.647																																																1	Substitution - Missense(1)	kidney(1)											58	51	53					5																	172745139		2203	4300	6503	SO:0001583	missense	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.620T>C	5.37:g.172745139A>G	ENSP00000265087:p.Ile207Thr			Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007213	0.54361	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.29	4.14	0.48551	.	0.045183	0.85682	D	0.000000	T	0.42245	0.1194	N	0.22421	0.69	0.41481	D	0.988166	B	0.27416	0.178	B	0.28709	0.093	T	0.41716	-0.9493	9	0.45353	T	0.12	-27.8827	10.4975	0.44785	0.9242:0.0:0.0758:0.0	.	207	O76061	STC2_HUMAN	T	207	.	ENSP00000265087:I207T	I	-	2	0	STC2	172677745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.189000	0.58358	1.991000	0.58162	0.528000	0.53228	ATC		0.647	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		G	172745139	A	G	172745139	3	3	583	1	0	0	0	0	1	0	0	0	15281	333	12	3	292	3	STC2	5	172745139	Missense_Mutation	SNP	A	TCGA-CZ-5453-01A-01D-1501-10	18563464	172745139	8170121	26	31909											
CPLX2	10814	broad.mit.edu	37	5	175306022	175306022	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:175306022G>C	ENST00000359546.4	+	4	786	c.143G>C	c.(142-144)cGt>cCt	p.R48P	CPLX2_ENST00000512824.1_Missense_Mutation_p.R48P|CPLX2_ENST00000515094.1_Missense_Mutation_p.R48P|CPLX2_ENST00000393745.3_Missense_Mutation_p.R48P	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	48	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)		p.R48P(2)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			gaggaggagCGTAAGGCCAAG	0.692																																																2	Substitution - Missense(2)	kidney(2)											18	17	18					5																	175306022		2198	4299	6497	SO:0001583	missense	10814			U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.143G>C	5.37:g.175306022G>C	ENSP00000352544:p.Arg48Pro		B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.461785	0.84425	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000512824;ENST00000393746;ENST00000514150;ENST00000502265;ENST00000515094	.	.	.	4.32	3.43	0.39272	.	0.000000	0.85682	U	0.000000	T	0.72391	0.3454	M	0.90595	3.13	0.80722	D	1	P	0.35208	0.49	B	0.42959	0.403	T	0.76231	-0.3035	9	0.87932	D	0	-13.2129	11.1153	0.48256	0.0:0.0:0.8137:0.1863	.	48	Q6PUV4	CPLX2_HUMAN	P	48	.	ENSP00000352544:R48P	R	+	2	0	CPLX2	175238628	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.950000	0.93019	0.995000	0.38917	0.457000	0.33378	CGT		0.692	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			C	175306022	G	C	175306022	3	2	583	1	0	0	0	0	1	0	0	0	3807	1145	40	4	149	4	CPLX2	5	175306022	Missense_Mutation	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	2560883	175306022	5609238	27	31910											
ZKSCAN3	80317	hgsc.bcm.edu	37	6	28327609	28327635	+	In_Frame_Del	DEL	GGAGCAGATCCTGGAGCTGCTGGTGCT	GGAGCAGATCCTGGAGCTGCTGGTGCT	-	rs200907251|rs537641620|rs201695426	byFrequency	TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	GGAGCAGATCCTGGAGCTGCTGGTGCT	GGAGCAGATCCTGGAGCTGCTGGTGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr6:28327609_28327635delGGAGCAGATCCTGGAGCTGCTGGTGCT	ENST00000377255.3	+	3	543_569	c.246_272delGGAGCAGATCCTGGAGCTGCTGGTGCT	c.(244-273)aaggagcagatcctggagctgctggtgctg>aag	p.EQILELLVL83del	ZKSCAN3_ENST00000252211.2_In_Frame_Del_p.EQILELLVL83del|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	83	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L89L(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TGCACAGCAAGGAGCAGATCCTGGAGCTGCTGGTGCTGGAGCAGTTC	0.648														4	0.000798722	0.0	0.0	5008	,	,		19718	0.0		0.004	False		,,,				2504	0.0															1	Substitution - coding silent(1)	lung(1)							,,	1,4255		0,1,2127					,,	3.7	1			37	18,8224		2,14,4105	no	coding,intron,coding	ZKSCAN3	NM_024493.3,NM_001242895.1,NM_001242894.1	,,	2,15,6232	A1A1,A1R,RR		0.2184,0.0235,0.152	,,	,,		19,12479				SO:0001651	inframe_deletion	80317			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.246_272delGGAGCAGATCCTGGAGCTGCTGGTGCT	6.37:g.28327609_28327635delGGAGCAGATCCTGGAGCTGCTGGTGCT	ENSP00000366465:p.Glu83_Leu91del		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	In_Frame_Del	DEL	ENST00000377255.3	37	CCDS4650.1																																																																																				0.648	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		-	28327635	GGAGCAGATCCTGGAGCTGCTGGTGCT	-	28327609	7	5	583	1	0	1	0	1	0	0	0	0	17693	991	35	0	248	0	ZKSCAN3	6	28327609	In_Frame_Del	DEL	GGAGCAGATCCTGGAGCTGCTGGTGCT	TCGA-CZ-5453-01A-01D-1501-10		28327609	142787458	28	31911											
SNX8	29886	broad.mit.edu;ucsc.edu	37	7	2314823	2314823	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr7:2314823C>T	ENST00000222990.3	-	3	384	c.342G>A	c.(340-342)gtG>gtA	p.V114V		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	114	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.V114V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CCTGGAAGACCACGAAGTCAT	0.562																																																1	Substitution - coding silent(1)	kidney(1)											197	176	183					7																	2314823		2203	4300	6503	SO:0001819	synonymous_variant	29886			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"Sorting nexins"	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.342G>A	7.37:g.2314823C>T			A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	CCDS5331.1																																																																																				0.562	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			T	2314823	C	T	2314823	2	4	583	1	0	0	0	0	0	0	0	1	14914	581	21	2		2	SNX8	7	2314823	Silent	SNP	C	TCGA-CZ-5453-01A-01D-1501-10		2314823	156823840	29	31912											
USP42	84132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6154957	6154957	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr7:6154957T>C	ENST00000306177.5	+	3	403	c.245T>C	c.(244-246)cTa>cCa	p.L82P		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	82					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.L82P(1)|p.L210P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TTTCTAGCCCTAGGTGATGGC	0.408																																																2	Substitution - Missense(2)	kidney(2)											113	104	107					7																	6154957		1867	4099	5966	SO:0001583	missense	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.245T>C	7.37:g.6154957T>C	ENSP00000301962:p.Leu82Pro		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.351546	0.24512	.	.	ENSG00000106346	ENST00000306177	T	0.15372	2.43	5.51	3.16	0.36331	.	0.478583	0.18699	N	0.133621	T	0.06188	0.0160	N	0.02368	-0.58	0.38739	D	0.953841	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.27365	-1.0076	10	0.23302	T	0.38	.	7.9276	0.29883	0.0:0.2145:0.0:0.7855	.	82;82	Q9H9J4-2;Q9H9J4	.;UBP42_HUMAN	P	82	ENSP00000301962:L82P	ENSP00000301962:L82P	L	+	2	0	USP42	6121483	0.904000	0.30761	1.000000	0.80357	0.632000	0.37999	1.253000	0.32886	0.928000	0.37168	-0.256000	0.11100	CTA		0.408	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		C	6154957	T	C	6154957	3	2	583	1	0	0	0	0	1	0	0	0	17078	1522	53	3	251	3	USP42	7	6154957	Missense_Mutation	SNP	T	TCGA-CZ-5453-01A-01D-1501-10	3840134	6154957	152983706	30	31913											
DLX6	1750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	96639202	96639202	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr7:96639202C>T	ENST00000518156.2	+	3	1155	c.725C>T	c.(724-726)gCg>gTg	p.A242V	DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.A214V|DLX6-AS1_ENST00000430027.3_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6_ENST00000555308.1_Missense_Mutation_p.A114V			P56179	DLX6_HUMAN	distal-less homeobox 6	124					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A214V(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CAGGGCTCGGCGGCCCTGTCG	0.577																																																1	Substitution - Missense(1)	kidney(1)											38	42	41					7																	96639202		2129	4261	6390	SO:0001583	missense	1750				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.725C>T	7.37:g.96639202C>T	ENSP00000428480:p.Ala242Val		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	ENST00000518156.2	37	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739326	0.30774	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	D;D;D	0.92149	-2.98;-2.9;-2.95	5.76	4.83	0.62350	.	0.199331	0.56097	D	0.000040	D	0.86896	0.6043	L	0.28115	0.83	0.49389	D	0.999789	B	0.20780	0.048	B	0.23275	0.045	T	0.82188	-0.0581	10	0.30078	T	0.28	-10.4313	16.2866	0.82724	0.0:0.8677:0.1323:0.0	.	214	P56179-2	.	V	242;214;114	ENSP00000428480:A242V;ENSP00000007660:A214V;ENSP00000451635:A114V	ENSP00000007660:A214V	A	+	2	0	DLX6	96477138	1.000000	0.71417	0.714000	0.30535	0.040000	0.13550	4.480000	0.60243	2.732000	0.93576	0.655000	0.94253	GCG		0.577	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		T	96639202	C	T	96639202	3	4	583	1	0	0	0	0	1	0	0	0	4577	768	27	1	735	1	DLX6	7	96639202	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	90484245	96639202	62499461	31	31914											
POT1	25913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	124503402	124503402	+	Splice_Site	SNP	A	A	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr7:124503402A>T	ENST00000357628.3	-	8	1145		c.e8+1		POT1_ENST00000393329.1_Splice_Site	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1						DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AAAAATATGTACCTTTAGAAG	0.368																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											2	Unknown(2)	kidney(2)											69	70	70					7																	124503402		2203	4299	6502	SO:0001630	splice_region_variant	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.546+1T>A	7.37:g.124503402A>T			O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Splice_Site	SNP	ENST00000357628.3	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.731772	0.48939	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2026	0.65714	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POT1	124290638	1.000000	0.71417	0.938000	0.37757	0.664000	0.39144	7.145000	0.77365	1.941000	0.56285	0.528000	0.53228	.		0.368	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		Intron	T	124503402	A	T	124503402	5	4	583	1	0	0	0	0	0	0	1	0	12262	405	14	5	1404	5	POT1	7	124503402	Splice_Site	SNP	A	TCGA-CZ-5453-01A-01D-1501-10	27864200	124503402	34635261	32	31915											
EIF2C2	27161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141545588	141545588	+	Silent	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr8:141545588C>A	ENST00000220592.5	-	17	2362	c.2250G>T	c.(2248-2250)ctG>ctT	p.L750L	AGO2_ENST00000519980.1_Intron	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	750	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.L750L(1)									CGTGACTACACAGGTAGAAGT	0.557																																																1	Substitution - coding silent(1)	kidney(1)											246	183	205					8																	141545588		2203	4300	6503	SO:0001819	synonymous_variant	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2250G>T	8.37:g.141545588C>A			Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	CCDS6380.1																																																																																				0.557	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			A	141545588	C	A	141545588	2	1	583	1	0	0	0	0	0	0	0	1	5008	465	17	4		4	EIF2C2	8	141545588	Silent	SNP	C	TCGA-CZ-5453-01A-01D-1501-10		141545588	4818434	33	31916											
MELK	9833	broad.mit.edu	37	9	36665415	36665415	+	Silent	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr9:36665415A>G	ENST00000298048.2	+	14	1429	c.1245A>G	c.(1243-1245)acA>acG	p.T415T	MELK_ENST00000545008.1_Silent_p.T344T|MELK_ENST00000536860.1_Silent_p.T367T|MELK_ENST00000543751.1_Silent_p.T383T|MELK_ENST00000536329.1_Silent_p.T344T|MELK_ENST00000538311.1_Silent_p.T221T|MELK_ENST00000536987.1_Silent_p.T284T|MELK_ENST00000541717.1_Silent_p.T374T	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	415	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.T415T(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TATGCAGAACACCTGCAAATA	0.348																																					Ovarian(82;980 1317 7225 14391 18624)											1	Substitution - coding silent(1)	kidney(1)											78	81	80					9																	36665415		2203	4299	6502	SO:0001819	synonymous_variant	9833			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1245A>G	9.37:g.36665415A>G			A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	ENST00000298048.2	37	CCDS6606.1																																																																																				0.348	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		G	36665415	A	G	36665415	2	3	583	1	0	0	0	0	0	0	0	1	9472	146	6	3		3	MELK	9	36665415	Silent	SNP	A	TCGA-CZ-5453-01A-01D-1501-10		36665415	104548016	34	31917											
VPS13A	23230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79936445	79936445	+	Silent	SNP	C	C	T	rs139782359		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr9:79936445C>T	ENST00000360280.3	+	44	5873	c.5613C>T	c.(5611-5613)ttC>ttT	p.F1871F	VPS13A_ENST00000376634.4_Silent_p.F1871F|VPS13A_ENST00000357409.5_Silent_p.F1871F|VPS13A_ENST00000376636.3_Silent_p.F1832F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1871					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.F1871F(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCTGACTTCGTAAAGGATC	0.343																																																3	Substitution - coding silent(3)	kidney(3)						C	,,,	1,4405	2.1+/-5.4	0,1,2202	66	70	69		5496,5613,5613,5613	-0.3	0	9	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	1832/3136,1871/3070,1871/3096,1871/3175	79936445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5613C>T	9.37:g.79936445C>T			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.493135	0.01009	2.27E-4	0.0	ENSG00000197969	ENST00000419472	.	.	.	5.8	-0.354	0.12591	.	.	.	.	.	T	0.35219	0.0924	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.31971	-0.9924	4	.	.	.	.	10.3589	0.43980	0.0:0.5544:0.0:0.4456	.	.	.	.	L	124	.	.	S	+	2	0	VPS13A	79126265	0.602000	0.26916	0.000000	0.03702	0.076000	0.17211	1.092000	0.30927	-0.348000	0.08286	0.460000	0.39030	TCG		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		T	79936445	C	T	79936445	2	4	583	1	0	0	0	0	0	0	0	1	17194	883	31	1		1	VPS13A	9	79936445	Silent	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	43271030	79936445	61276986	35	31918											
CACNB2	783	hgsc.bcm.edu	37	10	18827236	18827237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:18827236_18827237insC	ENST00000324631.7	+	13	1490_1491	c.1430_1431insC	c.(1429-1434)agccgtfs	p.R478fs	CACNB2_ENST00000377328.1_Frame_Shift_Ins_p.R228fs|CACNB2_ENST00000352115.6_Frame_Shift_Ins_p.R454fs|CACNB2_ENST00000396576.2_Frame_Shift_Ins_p.R423fs|CACNB2_ENST00000282343.8_Frame_Shift_Ins_p.R450fs|CACNB2_ENST00000377315.4_Frame_Shift_Ins_p.R430fs|CACNB2_ENST00000377319.3_Frame_Shift_Ins_p.R385fs|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Frame_Shift_Ins_p.R426fs|CACNB2_ENST00000377329.4_Frame_Shift_Ins_p.R424fs	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	478					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTCCTTAGCCGTACATTAG	0.495																																																0																																										SO:0001589	frameshift_variant	783			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1432dupC	10.37:g.18827238_18827238dupC	ENSP00000320025:p.Arg478fs		A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Frame_Shift_Ins	INS	ENST00000324631.7	37	CCDS7125.1																																																																																				0.495	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		C	18827237	-	C	18827236	7	5	583	1	0	1	1	0	0	0	0	0	2555	971	34	0	1790	0	CACNB2	10	18827236	Frame_Shift_Ins	INS	-	TCGA-CZ-5453-01A-01D-1501-10		18827236	116707511	36	31919											
CCAR1	55749	broad.mit.edu;ucsc.edu	37	10	70502139	70502139	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:70502139G>T	ENST00000265872.6	+	6	450	c.331G>T	c.(331-333)Gtt>Ttt	p.V111F	CCAR1_ENST00000535016.1_Missense_Mutation_p.V96F|CCAR1_ENST00000543719.1_Missense_Mutation_p.V96F	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	111					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.V111F(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATAGCCAGCTGTTGCACTGCC	0.378																																																1	Substitution - Missense(1)	kidney(1)											129	109	116					10																	70502139		2203	4300	6503	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.331G>T	10.37:g.70502139G>T	ENSP00000265872:p.Val111Phe		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437692	0.83885	.	.	ENSG00000060339	ENST00000536391;ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225	T;T;T;T;T	0.30714	1.52;1.53;1.53;1.54;1.7	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.68765	0.899;0.96	T	0.41324	-0.9515	10	0.72032	D	0.01	-17.4968	20.1086	0.97902	0.0:0.0:1.0:0.0	.	96;111	Q8IX12-2;Q8IX12	.;CCAR1_HUMAN	F	111;111;96;111;96;96;85	ENSP00000265872:V111F;ENSP00000441820:V96F;ENSP00000445254:V96F;ENSP00000439252:V96F;ENSP00000438610:V85F	ENSP00000265872:V111F	V	+	1	0	CCAR1	70172145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.733000	0.84916	2.756000	0.94617	0.563000	0.77884	GTT		0.378	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		T	70502139	G	T	70502139	3	4	583	1	0	0	0	0	1	0	0	0	2732	1377	48	4	349	4	CCAR1	10	70502139	Missense_Mutation	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	51674903	70502139	65032608	37	31920											
CAMK2G	818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75574945	75574945	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:75574945A>G	ENST00000351293.3	-	18	1373	c.1316T>C	c.(1315-1317)aTt>aCt	p.I439T	CAMK2G_ENST00000372765.1_Missense_Mutation_p.I460T|CAMK2G_ENST00000322680.3_Missense_Mutation_p.I500T|CAMK2G_ENST00000322635.3_Missense_Mutation_p.I471T|CAMK2G_ENST00000394762.2_Missense_Mutation_p.I477T|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Missense_Mutation_p.I473T|CAMK2G_ENST00000423381.1_Missense_Mutation_p.I532T|RP11-574K11.5_ENST00000434147.1_RNA	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	502					calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.I439T(1)|p.I500T(1)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	GTCCTCCCCAATCACGTGGAC	0.612																																																2	Substitution - Missense(2)	kidney(2)											160	130	141					10																	75574945		2203	4300	6503	SO:0001583	missense	818			U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.1316T>C	10.37:g.75574945A>G	ENSP00000277853:p.Ile439Thr		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000351293.3	37	CCDS7336.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700799	0.88924	.	.	ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000433289;ENST00000305762;ENST00000372765	T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.51	5.51	0.81932	Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	M	0.61703	1.905	0.80722	D	1	P;P;P;P;D;P;P	0.56035	0.883;0.835;0.566;0.925;0.974;0.809;0.935	P;B;B;P;P;B;P	0.60949	0.749;0.373;0.419;0.864;0.881;0.287;0.811	T	0.63395	-0.6647	10	0.87932	D	0	.	15.6466	0.77061	1.0:0.0:0.0:0.0	.	473;532;439;462;502;471;500	Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8	.;.;.;.;KCC2G_HUMAN;.;.	T	439;471;532;502;500;477;397;473;460	ENSP00000277853:I439T;ENSP00000315599:I471T;ENSP00000410298:I532T;ENSP00000319060:I500T;ENSP00000378243:I477T;ENSP00000393784:I397T;ENSP00000307082:I473T;ENSP00000361851:I460T	ENSP00000307082:I473T	I	-	2	0	CAMK2G	75244951	1.000000	0.71417	0.504000	0.27639	0.999000	0.98932	8.962000	0.93254	2.088000	0.63022	0.533000	0.62120	ATT		0.612	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1	NM_172169		G	75574945	A	G	75574945	3	3	583	1	0	0	0	0	1	0	0	0	2604	101	4	3	175	3	CAMK2G	10	75574945	Missense_Mutation	SNP	A	TCGA-CZ-5453-01A-01D-1501-10	5072806	75574945	59959802	38	31921											
ATE1	11101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	123683801	123683801	+	Silent	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:123683801G>A	ENST00000224652.6	-	2	235	c.150C>T	c.(148-150)ctC>ctT	p.L50L	ATE1_ENST00000543447.1_5'UTR|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000369043.3_Silent_p.L50L|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000540606.1_Silent_p.L43L	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	50					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)	p.L50L(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CTCGGTCTATGAGATCCTGAT	0.393																																																2	Substitution - coding silent(2)	kidney(2)											201	183	190					10																	123683801		2203	4300	6503	SO:0001819	synonymous_variant	11101			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.150C>T	10.37:g.123683801G>A			O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343538	0.24339	.	.	ENSG00000107669	ENST00000423243	.	.	.	5.96	-7.01	0.01594	.	.	.	.	.	T	0.53351	0.1791	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58803	-0.7572	4	.	.	.	-18.4773	11.6326	0.51185	0.2135:0.2064:0.5801:0.0	.	.	.	.	Y	47	.	.	H	-	1	0	ATE1	123673791	0.003000	0.15002	0.766000	0.31476	0.991000	0.79684	-1.794000	0.01753	-1.427000	0.01992	-0.302000	0.09304	CAT		0.393	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		A	123683801	G	A	123683801	2	1	583	1	0	0	0	0	0	0	0	1	1078	1277	45	2		2	ATE1	10	123683801	Silent	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	48108856	123683801	11850946	39	31922											
GPR26	2849	broad.mit.edu;ucsc.edu	37	10	125447555	125447555	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:125447555G>A	ENST00000284674.1	+	3	946	c.893G>A	c.(892-894)cGa>cAa	p.R298Q		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	298					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R298Q(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TCCTTACTGCGACACCAGTAC	0.597																																																1	Substitution - Missense(1)	kidney(1)											84	74	77					10																	125447555		2203	4300	6503	SO:0001583	missense	2849				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.893G>A	10.37:g.125447555G>A	ENSP00000284674:p.Arg298Gln		Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241727	0.95272	.	.	ENSG00000154478	ENST00000284674	T	0.37235	1.21	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000005	T	0.45498	0.1345	L	0.58810	1.83	0.80722	D	1	D	0.60160	0.987	P	0.47299	0.543	T	0.42531	-0.9446	10	0.51188	T	0.08	-4.1452	19.5704	0.95409	0.0:0.0:1.0:0.0	.	298	Q8NDV2	GPR26_HUMAN	Q	298	ENSP00000284674:R298Q	ENSP00000284674:R298Q	R	+	2	0	GPR26	125437545	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.350000	0.97070	2.603000	0.88011	0.585000	0.79938	CGA		0.597	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			A	125447555	G	A	125447555	3	1	583	1	0	0	0	0	1	0	0	0	6686	1058	37	1	903	1	GPR26	10	125447555	Missense_Mutation	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	1763754	125447555	10087192	40	31923											
ZRANB1	54764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	126662823	126662823	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:126662823T>C	ENST00000359653.4	+	5	1654	c.1283T>C	c.(1282-1284)tTg>tCg	p.L428S		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	428	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L428S(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GCTACACGTTTGGACAGTCGA	0.423																																																1	Substitution - Missense(1)	kidney(1)											145	137	140					10																	126662823		2203	4300	6503	SO:0001583	missense	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1283T>C	10.37:g.126662823T>C	ENSP00000352676:p.Leu428Ser		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.914253	0.92178	.	.	ENSG00000019995	ENST00000359653	T	0.21932	1.98	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	M	0.66939	2.045	0.80722	D	1	D	0.59767	0.986	P	0.54312	0.748	T	0.13818	-1.0495	10	0.51188	T	0.08	-24.5709	16.0421	0.80691	0.0:0.0:0.0:1.0	.	428	Q9UGI0	ZRAN1_HUMAN	S	428	ENSP00000352676:L428S	ENSP00000352676:L428S	L	+	2	0	ZRANB1	126652813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.018000	0.88722	2.192000	0.70111	0.533000	0.62120	TTG		0.423	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		C	126662823	T	C	126662823	3	2	583	1	0	0	0	0	1	0	0	0	18227	1821	63	3	1301	3	ZRANB1	10	126662823	Missense_Mutation	SNP	T	TCGA-CZ-5453-01A-01D-1501-10	1215268	126662823	8871924	41	31924											
CDHR5	53841	hgsc.bcm.edu	37	11	618106	618106	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr11:618106C>T	ENST00000358353.3	-	15	2288	c.1966G>A	c.(1966-1968)Ggc>Agc	p.G656S	IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.G656S|CDHR5_ENST00000349570.7_Missense_Mutation_p.G462S|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000397570.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	656					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TCCGAGGGGCCGCCACCTGGC	0.652																																																0													64	57	59					11																	618106		2201	4299	6500	SO:0001583	missense	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1966G>A	11.37:g.618106C>T	ENSP00000351118:p.Gly656Ser		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	C	0.887	-0.726733	0.03158	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000349570	T;T;T	0.57907	0.37;0.37;0.9	1.87	-0.231	0.13086	.	4.336540	0.00817	N	0.001557	T	0.40247	0.1109	L	0.40543	1.245	0.09310	N	1	P;P;P	0.44241	0.706;0.829;0.706	B;B;B	0.36959	0.132;0.237;0.132	T	0.28996	-1.0026	10	0.13853	T	0.58	1.1837	7.5176	0.27610	0.0:0.4676:0.5324:0.0	.	650;462;656	Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;CDHR5_HUMAN	S	656;656;462	ENSP00000380676:G656S;ENSP00000351118:G656S;ENSP00000345726:G462S	ENSP00000345726:G462S	G	-	1	0	CDHR5	608106	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.782000	0.01772	-0.049000	0.13379	-0.264000	0.10439	GGC		0.652	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		T	618106	C	T	618106	3	4	583	1	0	0	0	0	1	0	0	0	3124	652	23	1	579	1	CDHR5	11	618106	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10		618106	134388410	42	31925											
LSP1	4046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1908764	1908764	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr11:1908764G>T	ENST00000311604.3	+	10	1166	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L	LSP1_ENST00000406638.2_Missense_Mutation_p.V269L|LSP1_ENST00000381775.1_Missense_Mutation_p.V459L|LSP1_ENST00000405957.2_Missense_Mutation_p.V269L|LSP1_ENST00000485341.1_3'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	331					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.V331L(1)|p.V269L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GTATGAGAAGGTGCTTGTGGA	0.587																																																2	Substitution - Missense(2)	kidney(2)											97	96	96					11																	1908764		2202	4299	6501	SO:0001583	missense	4046			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.991G>T	11.37:g.1908764G>T	ENSP00000308383:p.Val331Leu		B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.286479	0.80803	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000406638	T;T;T;T	0.28895	1.68;1.59;1.7;1.7	4.48	4.48	0.54585	.	0.224693	0.21385	U	0.075418	T	0.43077	0.1231	L	0.32530	0.975	0.37805	D	0.927857	D;D	0.61697	0.99;0.979	P;P	0.62813	0.907;0.783	T	0.50734	-0.8793	10	0.72032	D	0.01	-25.2367	16.0896	0.81084	0.0:0.0:1.0:0.0	.	459;331	E9PFP3;P33241	.;LSP1_HUMAN	L	331;459;269;269	ENSP00000308383:V331L;ENSP00000371194:V459L;ENSP00000383932:V269L;ENSP00000384022:V269L	ENSP00000308383:V331L	V	+	1	0	LSP1	1865340	1.000000	0.71417	0.991000	0.47740	0.820000	0.46376	3.222000	0.51223	2.218000	0.71995	0.305000	0.20034	GTG		0.587	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		T	1908764	G	T	1908764	3	4	583	1	0	0	0	0	1	0	0	0	9065	1261	44	4	1029	4	LSP1	11	1908764	Missense_Mutation	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	1290658	1908764	133097752	43	31926											
ACP2	53	hgsc.bcm.edu;ucsc.edu	37	11	47267291	47267291	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr11:47267291T>A	ENST00000256997.3	-	4	508	c.392A>T	c.(391-393)aAc>aTc	p.N131I	ACP2_ENST00000533929.1_Missense_Mutation_p.N103I|ACP2_ENST00000525230.1_5'Flank|ACP2_ENST00000529444.1_Missense_Mutation_p.N131I|ACP2_ENST00000444355.2_Missense_Mutation_p.N131I|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000530453.1_Missense_Mutation_p.N131I|ACP2_ENST00000527256.1_Missense_Mutation_p.N99I	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	131					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GATGTTCGGGTTGAAGCGCTG	0.592																																					Melanoma(90;262 1440 11488 44828 48531)											0													108	97	101					11																	47267291		2201	4298	6499	SO:0001583	missense	53			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.392A>T	11.37:g.47267291T>A	ENSP00000256997:p.Asn131Ile		E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295636	0.81025	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000540414;ENST00000533929;ENST00000529663;ENST00000530453;ENST00000444355	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.79	5.79	0.91817	.	0.275515	0.44483	D	0.000442	T	0.59715	0.2214	M	0.88105	2.93	0.80722	D	1	D;D;D;P;D;D	0.76494	0.999;0.984;0.966;0.938;0.98;0.984	D;D;D;P;D;D	0.73380	0.979;0.98;0.934;0.898;0.921;0.953	T	0.67221	-0.5725	10	0.87932	D	0	.	11.2031	0.48754	0.0:0.0711:0.0:0.9289	.	131;131;99;103;121;131	E9PCI1;E9PHY0;B7Z7D2;E9PQY3;F5H1S6;P11117	.;.;.;.;.;PPAL_HUMAN	I	131;131;99;121;103;131;131;131	ENSP00000256997:N131I;ENSP00000436658:N131I;ENSP00000432205:N99I;ENSP00000432439:N103I;ENSP00000436487:N131I;ENSP00000434205:N131I;ENSP00000414911:N131I	ENSP00000256997:N131I	N	-	2	0	ACP2	47223867	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.025000	0.49681	2.208000	0.71279	0.533000	0.62120	AAC		0.592	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		A	47267291	T	A	47267291	3	1	583	1	0	0	0	0	1	0	0	0	163	1725	60	5	944	5	ACP2	11	47267291	Missense_Mutation	SNP	T	TCGA-CZ-5453-01A-01D-1501-10	45358527	47267291	87739225	44	31927											
TMEM133	83935	broad.mit.edu;ucsc.edu	37	11	100863191	100863191	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr11:100863191A>G	ENST00000303130.2	+	1	381	c.152A>G	c.(151-153)tAc>tGc	p.Y51C		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	51						integral component of membrane (GO:0016021)		p.Y51C(1)		kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TTTGCCTCCTACCCTTTTTTG	0.398																																																1	Substitution - Missense(1)	kidney(1)											137	135	135					11																	100863191		2203	4300	6503	SO:0001583	missense	83935			AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.152A>G	11.37:g.100863191A>G	ENSP00000303999:p.Tyr51Cys			Missense_Mutation	SNP	ENST00000303130.2	37	CCDS8309.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.969962	0.34754	.	.	ENSG00000170647	ENST00000303130	.	.	.	3.89	-5.16	0.02857	.	.	.	.	.	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	B	0.24258	0.1	B	0.18263	0.021	T	0.21245	-1.0251	8	0.87932	D	0	.	4.3547	0.11172	0.2191:0.0:0.2962:0.4847	.	51	Q9H2Q1	TM133_HUMAN	C	51	.	ENSP00000303999:Y51C	Y	+	2	0	TMEM133	100368401	0.000000	0.05858	0.000000	0.03702	0.546000	0.35178	-0.479000	0.06567	-1.098000	0.03038	0.533000	0.62120	TAC		0.398	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021		G	100863191	A	G	100863191	3	3	583	1	0	0	0	0	1	0	0	0	16054	391	14	3	154	3	TMEM133	11	100863191	Missense_Mutation	SNP	A	TCGA-CZ-5453-01A-01D-1501-10	53595900	100863191	34143325	45	31928											
ANKK1	255239	broad.mit.edu	37	11	113270770	113270770	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr11:113270770G>T	ENST00000303941.3	+	8	2173	c.2079G>T	c.(2077-2079)tgG>tgT	p.W693C		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	693							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.W693C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGGTGGGCTGGACACCCGCCC	0.632																																																1	Substitution - Missense(1)	kidney(1)											34	41	38					11																	113270770		2041	4173	6214	SO:0001583	missense	255239			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2079G>T	11.37:g.113270770G>T	ENSP00000306678:p.Trp693Cys			Missense_Mutation	SNP	ENST00000303941.3	37	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	8.430	0.848292	0.17034	.	.	ENSG00000170209	ENST00000303941	T	0.64438	-0.1	4.42	3.48	0.39840	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000043	T	0.74772	0.3760	M	0.70108	2.13	0.52099	D	0.999948	D	0.76494	0.999	D	0.66847	0.947	T	0.74680	-0.3584	10	0.38643	T	0.18	-2.458	13.3847	0.60789	0.0:0.1593:0.8407:0.0	.	693	Q8NFD2	ANKK1_HUMAN	C	693	ENSP00000306678:W693C	ENSP00000306678:W693C	W	+	3	0	ANKK1	112775980	1.000000	0.71417	0.994000	0.49952	0.162000	0.22319	2.133000	0.42093	1.053000	0.40415	0.514000	0.50259	TGG		0.632	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		T	113270770	G	T	113270770	3	4	583	1	0	0	0	0	1	0	0	0	631	1183	41	4	2109	4	ANKK1	11	113270770	Missense_Mutation	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	12407579	113270770	21735746	46	31929											
SLC15A4	121260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	129293991	129293991	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr12:129293991G>A	ENST00000266771.5	-	4	1078	c.1039C>T	c.(1039-1041)Ctt>Ttt	p.L347F	SLC15A4_ENST00000544112.1_Missense_Mutation_p.L10F|SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	347					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.L347F(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CTCAAATGAAGACTCTGTAAA	0.358																																																1	Substitution - Missense(1)	kidney(1)											174	181	179					12																	129293991		2203	4300	6503	SO:0001583	missense	121260			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"Solute carriers"	23090	protein-coding gene	gene with protein product		615806	"solute carrier family 15, member 4"			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1039C>T	12.37:g.129293991G>A	ENSP00000266771:p.Leu347Phe		A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049910	0.93740	.	.	ENSG00000139370	ENST00000266771;ENST00000544112;ENST00000376740	T;T;T	0.04234	3.67;3.67;3.67	5.92	5.92	0.95590	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	M	0.68317	2.08	0.80722	D	1	D	0.59767	0.986	D	0.67548	0.952	T	0.00006	-1.2512	10	0.54805	T	0.06	.	20.3128	0.98645	0.0:0.0:1.0:0.0	.	347	Q8N697	S15A4_HUMAN	F	347;10;47	ENSP00000266771:L347F;ENSP00000439946:L10F;ENSP00000365930:L47F	ENSP00000266771:L347F	L	-	1	0	SLC15A4	127859944	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.087000	0.76893	2.808000	0.96608	0.561000	0.74099	CTT		0.358	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		A	129293991	G	A	129293991	3	1	583	1	0	0	0	0	1	0	0	0	14407	942	33	2	714	2	SLC15A4	12	129293991	Missense_Mutation	SNP	G	TCGA-CZ-5453-01A-01D-1501-10		129293991	4557904	47	31930	237	2									
SLC15A4	121260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	129293993	129293993	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr12:129293993C>A	ENST00000266771.5	-	4	1076	c.1037G>T	c.(1036-1038)aGt>aTt	p.S346I	SLC15A4_ENST00000544112.1_Missense_Mutation_p.S9I|SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	346					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.S346I(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CAAATGAAGACTCTGTAAAAC	0.368																																																1	Substitution - Missense(1)	kidney(1)											173	180	178					12																	129293993		2203	4300	6503	SO:0001583	missense	121260			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"Solute carriers"	23090	protein-coding gene	gene with protein product		615806	"solute carrier family 15, member 4"			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1037G>T	12.37:g.129293993C>A	ENSP00000266771:p.Ser346Ile		A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966180	0.92855	.	.	ENSG00000139370	ENST00000266771;ENST00000544112;ENST00000376740	T;T;T	0.59364	0.27;3.67;3.67	5.92	5.92	0.95590	Major facilitator superfamily domain, general substrate transporter (1);	0.076378	0.85682	D	0.000000	T	0.75027	0.3794	M	0.67953	2.075	0.58432	D	0.999998	D	0.64830	0.994	D	0.63597	0.916	T	0.75725	-0.3217	10	0.87932	D	0	.	20.3128	0.98645	0.0:1.0:0.0:0.0	.	346	Q8N697	S15A4_HUMAN	I	346;9;46	ENSP00000266771:S346I;ENSP00000439946:S9I;ENSP00000365930:S46I	ENSP00000266771:S346I	S	-	2	0	SLC15A4	127859946	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.048000	0.76606	2.808000	0.96608	0.561000	0.74099	AGT		0.368	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		A	129293993	C	A	129293993	3	1	583	1	0	0	0	0	1	0	0	0	14407	565	20	4	716	4	SLC15A4	12	129293993	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	2	129293993	4557902	48	31931	237	2									
ZMYM2	7750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	20638656	20638656	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr13:20638656G>C	ENST00000382874.2	+	20	3293	c.3103G>C	c.(3103-3105)Gaa>Caa	p.E1035Q	ZMYM2_ENST00000382871.2_Missense_Mutation_p.E1035Q|ZMYM2_ENST00000382869.3_Missense_Mutation_p.E1035Q	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1035					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.E1035Q(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGAATATGAGGAACAGCCCAG	0.338																																																2	Substitution - Missense(2)	kidney(2)											122	110	114					13																	20638656		1814	4078	5892	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3103G>C	13.37:g.20638656G>C	ENSP00000372327:p.Glu1035Gln		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517460	0.64634	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.18960	2.18	5.52	5.52	0.82312	.	0.371645	0.32884	N	0.005534	T	0.16342	0.0393	L	0.34521	1.04	0.80722	D	1	P	0.43477	0.808	B	0.29785	0.107	T	0.02868	-1.1100	10	0.44086	T	0.13	-25.7202	19.8024	0.96513	0.0:0.0:1.0:0.0	.	1035	Q9UBW7	ZMYM2_HUMAN	Q	1035;1035;1033;1033;413	ENSP00000372322:E1035Q	ENSP00000372322:E1035Q	E	+	1	0	ZMYM2	19536656	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.103000	0.77014	2.752000	0.94435	0.655000	0.94253	GAA		0.338	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		C	20638656	G	C	20638656	3	2	583	1	0	0	0	0	1	0	0	0	17705	1175	41	4	3169	4	ZMYM2	13	20638656	Missense_Mutation	SNP	G	TCGA-CZ-5453-01A-01D-1501-10		20638656	94531222	49	31932											
SLC46A3	283537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	29275084	29275084	+	3'UTR	SNP	T	T	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr13:29275084T>G	ENST00000266943.6	-	0	2305				SLC46A3_ENST00000475385.1_5'UTR|SLC46A3_ENST00000380814.4_Nonstop_Mutation_p.*464Y|RNU6-53P_ENST00000365367.1_RNA	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3						transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.*464Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CAATAGCAGCTTAACAGGCTC	0.318																																																1	Nonstop extension(1)	kidney(1)											80	69	72					13																	29275084		692	1590	2282	SO:0001624	3_prime_UTR_variant	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.*550A>C	13.37:g.29275084T>G			Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	T	1.712	-0.498860	0.04291	.	.	ENSG00000139508	ENST00000380814	.	.	.	4.34	-1.77	0.07982	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8761	0.09058	0.5008:0.0996:0.0:0.3995	.	.	.	.	Y	464	.	.	X	-	3	2	SLC46A3	28173084	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.317000	0.19487	-0.023000	0.13963	0.533000	0.62120	TAA		0.318	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		G	29275084	T	G	29275084	1	3	583	0	1	0	0	0	0	0	0	0	14652	1616	56	5		5	SLC46A3	13	29275084	3'UTR	SNP	T	TCGA-CZ-5453-01A-01D-1501-10	8636428	29275084	85894794	50	31933											
SLITRK5	26050	broad.mit.edu;ucsc.edu	37	13	88329235	88329235	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr13:88329235T>C	ENST00000325089.6	+	2	1811	c.1592T>C	c.(1591-1593)cTc>cCc	p.L531P	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L290P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	531					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.L531P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTGACCCTCCTCAGGCTAAAC	0.522																																																1	Substitution - Missense(1)	kidney(1)											67	69	68					13																	88329235		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1592T>C	13.37:g.88329235T>C	ENSP00000366283:p.Leu531Pro		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.235834	0.22626	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58358	0.34;0.34	5.01	3.8	0.43715	.	0.262607	0.32578	N	0.005902	T	0.50188	0.1601	L	0.53671	1.685	0.58432	D	0.999992	B;B	0.23540	0.087;0.036	B;B	0.40602	0.334;0.233	T	0.41858	-0.9485	9	.	.	.	-15.1605	4.3141	0.10984	0.1767:0.0936:0.0:0.7297	.	290;531	B4DSH5;O94991	.;SLIK5_HUMAN	P	531;290	ENSP00000366283:L531P;ENSP00000442244:L290P	.	L	+	2	0	SLITRK5	87127236	0.094000	0.21725	0.998000	0.56505	0.995000	0.86356	1.910000	0.39927	0.719000	0.32188	0.459000	0.35465	CTC		0.522	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			C	88329235	T	C	88329235	3	2	583	1	0	0	0	0	1	0	0	0	14752	1551	54	3	1594	3	SLITRK5	13	88329235	Missense_Mutation	SNP	T	TCGA-CZ-5453-01A-01D-1501-10	59054151	88329235	26840643	51	31934											
DNAJC3	5611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	96361504	96361504	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr13:96361504G>A	ENST00000602402.1	+	2	223	c.106G>A	c.(106-108)Gat>Aat	p.D36N	DNAJC3_ENST00000376795.6_Missense_Mutation_p.D36N	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	36					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)	p.D36N(1)		NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGTAAATGCAGATGTTGAGAA	0.323																																																1	Substitution - Missense(1)	kidney(1)											125	114	118					13																	96361504		2203	4300	6503	SO:0001583	missense	5611			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.106G>A	13.37:g.96361504G>A	ENSP00000473631:p.Asp36Asn		Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398077	0.62177	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.295750	0.42420	D	0.000719	T	0.59972	0.2233	L	0.42245	1.32	0.50039	D	0.99984	B;B	0.22604	0.072;0.072	B;B	0.26517	0.07;0.07	T	0.55263	-0.8168	9	0.52906	T	0.07	-7.904	19.0962	0.93253	0.0:0.0:1.0:0.0	.	36;36	A8KA82;Q13217	.;DNJC3_HUMAN	N	36	.	ENSP00000365991:D36N	D	+	1	0	DNAJC3	95159505	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.361000	0.66092	2.818000	0.97014	0.655000	0.94253	GAT		0.323	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			A	96361504	G	A	96361504	3	1	583	1	0	0	0	0	1	0	0	0	4649	942	33	2	112	2	DNAJC3	13	96361504	Missense_Mutation	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	8032269	96361504	18808374	52	31935											
ATP11A	23250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	113464970	113464970	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr13:113464970C>T	ENST00000487903.1	+	5	459	c.371C>T	c.(370-372)gCc>gTc	p.A124V	ATP11A_ENST00000283558.8_Missense_Mutation_p.A124V|ATP11A_ENST00000375630.2_Missense_Mutation_p.A124V|ATP11A_ENST00000375645.3_Missense_Mutation_p.A124V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	124					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A124V(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCAGACAATGCCATGAACCAG	0.483																																																2	Substitution - Missense(2)	kidney(2)											146	129	135					13																	113464970		2203	4300	6503	SO:0001583	missense	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.371C>T	13.37:g.113464970C>T	ENSP00000420387:p.Ala124Val		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.659097|3.659097	0.67586|0.67586	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558|ENST00000418678	D;D;D;D|.	0.90324|.	-2.65;-2.65;-2.65;-2.65|.	4.83|4.83	4.83|4.83	0.62350|0.62350	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.057087|.	0.64402|.	D|.	0.000001|.	T|T	0.49355|0.49355	0.1552|0.1552	N|N	0.16201|0.16201	0.385|0.385	0.45914|0.45914	D|D	0.998758|0.998758	B;B|.	0.22346|.	0.068;0.038|.	B;B|.	0.26614|.	0.071;0.071|.	T|T	0.45338|0.45338	-0.9268|-0.9268	10|5	0.52906|.	T|.	0.07|.	.|.	17.0821|17.0821	0.86601|0.86601	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	124;124|.	E9PEJ6;P98196|.	.;AT11A_HUMAN|.	V|S	124|99	ENSP00000420387:A124V;ENSP00000364781:A124V;ENSP00000364796:A124V;ENSP00000283558:A124V|.	ENSP00000283558:A124V|.	A|P	+|+	2|1	0|0	ATP11A|ATP11A	112512971|112512971	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.930000|0.930000	0.56654|0.56654	3.613000|3.613000	0.54152|0.54152	2.385000|2.385000	0.81259|0.81259	0.563000|0.563000	0.77884|0.77884	GCC|CCA		0.483	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		T	113464970	C	T	113464970	3	4	583	1	0	0	0	0	1	0	0	0	1119	739	26	2	389	2	ATP11A	13	113464970	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	17103466	113464970	1704908	53	31936											
POLE2	5427	broad.mit.edu;ucsc.edu	37	14	50136257	50136257	+	Silent	SNP	G	G	A	rs139370609	byFrequency	TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr14:50136257G>A	ENST00000216367.5	-	6	576	c.477C>T	c.(475-477)agC>agT	p.S159S	POLE2_ENST00000554396.1_Silent_p.S159S|POLE2_ENST00000539565.2_Silent_p.S133S|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	159					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.S159S(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	ATTTGCTTCCGCTTTCATCAG	0.348													G|||	13	0.00259585	0.0098	0.0	5008	,	,		16922	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G	,,	29,4377	35.2+/-66.4	0,29,2174	86	84	85		399,477,477	-7.9	0.3	14	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	POLE2	NM_001197330.1,NM_001197331.1,NM_002692.3	,,	0,30,6473	AA,AG,GG		0.0116,0.6582,0.2307	,,	133/502,159/503,159/528	50136257	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	5427			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.477C>T	14.37:g.50136257G>A			A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	ENST00000216367.5	37	CCDS32073.1																																																																																				0.348	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		A	50136257	G	A	50136257	2	1	583	1	0	0	0	0	0	0	0	1	12199	1078	38	1		1	POLE2	14	50136257	Silent	SNP	G	TCGA-CZ-5453-01A-01D-1501-10		50136257	57213283	54	31937											
C14orf43	91748	broad.mit.edu	37	14	74205845	74205845	+	Silent	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr14:74205845G>A	ENST00000286523.5	-	2	1649	c.867C>T	c.(865-867)ggC>ggT	p.G289G	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Silent_p.G289G	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	289	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G289G(1)									CTGGCTGCAGGCCAAAGTCCT	0.622																																																1	Substitution - coding silent(1)	kidney(1)											28	29	29					14																	74205845		2203	4300	6503	SO:0001819	synonymous_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.867C>T	14.37:g.74205845G>A			Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	CCDS9819.1																																																																																				0.622	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		A	74205845	G	A	74205845	2	1	583	1	0	0	0	0	0	0	0	1	1776	1190	42	2		2	C14orf43	14	74205845	Silent	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	24069588	74205845	33143695	55	31938											
ZSCAN29	146050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43661269	43661269	+	Silent	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr15:43661269T>C	ENST00000396976.2	-	2	509	c.375A>G	c.(373-375)aaA>aaG	p.K125K	ZSCAN29_ENST00000568898.1_Silent_p.K124K|TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank|ZSCAN29_ENST00000562072.1_Silent_p.K124K|ZSCAN29_ENST00000396972.1_Silent_p.K125K|ZSCAN29_ENST00000563508.1_5'Flank	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	125					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K125K(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTTGTGATGATTTCGGGGGTG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											99	97	97					15																	43661269		2201	4299	6500	SO:0001819	synonymous_variant	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.375A>G	15.37:g.43661269T>C			B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	ENST00000396976.2	37	CCDS10095.2																																																																																				0.522	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		C	43661269	T	C	43661269	2	2	583	1	0	0	0	0	0	0	0	1	18241	1490	52	3		3	ZSCAN29	15	43661269	Silent	SNP	T	TCGA-CZ-5453-01A-01D-1501-10		43661269	58870123	56	31939											
CORO2B	10391	broad.mit.edu;hgsc.bcm.edu	37	15	69003112	69003112	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr15:69003112C>T	ENST00000566799.1	+	4	404	c.375C>T	c.(373-375)aaC>aaT	p.N125N	CORO2B_ENST00000540068.1_Silent_p.N120N|CORO2B_ENST00000261861.5_Silent_p.N120N|CORO2B_ENST00000543950.1_Silent_p.N120N			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	125					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.N125N(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGAAGCGGAACATGACGGAGG	0.657																																																1	Substitution - coding silent(1)	kidney(1)											36	32	33					15																	69003112		2199	4297	6496	SO:0001819	synonymous_variant	10391			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.375C>T	15.37:g.69003112C>T			A8K0W3|O94767|Q8TAN1	Silent	SNP	ENST00000566799.1	37	CCDS10229.2																																																																																				0.657	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		T	69003112	C	T	69003112	2	4	583	1	0	0	0	0	0	0	0	1	3759	477	17	2		2	CORO2B	15	69003112	Silent	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	25341843	69003112	33528280	57	31940											
KIAA1024	23251	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	79748707	79748707	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr15:79748707T>A	ENST00000305428.3	+	2	293	c.218T>A	c.(217-219)gTg>gAg	p.V73E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	73						integral component of membrane (GO:0016021)		p.V73E(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AAATGCACTGTGAATAACCAG	0.468																																																1	Substitution - Missense(1)	kidney(1)											90	86	87					15																	79748707		2196	4293	6489	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.218T>A	15.37:g.79748707T>A	ENSP00000307461:p.Val73Glu		A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.631728	0.29068	.	.	ENSG00000169330	ENST00000305428	T	0.35605	1.3	5.88	-2.51	0.06365	.	0.441905	0.26026	N	0.026786	T	0.26846	0.0657	L	0.60455	1.87	0.09310	N	1	B	0.23735	0.09	B	0.24974	0.057	T	0.17653	-1.0362	9	.	.	.	.	6.1727	0.20427	0.0:0.2511:0.354:0.3949	.	73	Q9UPX6	K1024_HUMAN	E	73	ENSP00000307461:V73E	.	V	+	2	0	KIAA1024	77535762	0.497000	0.26067	0.000000	0.03702	0.985000	0.73830	0.646000	0.24797	-0.738000	0.04817	-0.332000	0.08345	GTG		0.468	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		A	79748707	T	A	79748707	3	1	583	1	0	0	0	0	1	0	0	0	8207	1696	59	5	220	5	KIAA1024	15	79748707	Missense_Mutation	SNP	T	TCGA-CZ-5453-01A-01D-1501-10	10745595	79748707	22782685	58	31941											
SEMA4B	10509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90768565	90768565	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr15:90768565T>A	ENST00000411539.2	+	11	1717	c.1457T>A	c.(1456-1458)aTt>aAt	p.I486N	SEMA4B_ENST00000379122.3_Missense_Mutation_p.I481N|SEMA4B_ENST00000332496.6_Missense_Mutation_p.I486N	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	481	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)	p.I486N(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GTGCACATCATTGAGGAGCTG	0.637																																																1	Substitution - Missense(1)	kidney(1)											39	46	44					15																	90768565		2056	4175	6231	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1457T>A	15.37:g.90768565T>A	ENSP00000394720:p.Ile486Asn		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	ENST00000411539.2	37	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.220811	0.58560	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.34275	1.37;1.37;1.37	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.051045	0.85682	D	0.000000	T	0.68559	0.3014	M	0.92970	3.365	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.997;0.997	T	0.77459	-0.2580	10	0.87932	D	0	.	14.5494	0.68054	0.0:0.0:0.0:1.0	.	481;486;481	Q9NPR2-2;Q2NL81;Q9NPR2	.;.;SEM4B_HUMAN	N	486;481;486	ENSP00000332204:I486N;ENSP00000368417:I481N;ENSP00000394720:I486N	ENSP00000332204:I486N	I	+	2	0	SEMA4B	88569569	1.000000	0.71417	0.195000	0.23364	0.097000	0.18754	7.872000	0.87187	2.047000	0.60756	0.459000	0.35465	ATT		0.637	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		A	90768565	T	A	90768565	3	1	583	1	0	0	0	0	1	0	0	0	14038	1493	52	5	1499	5	SEMA4B	15	90768565	Missense_Mutation	SNP	T	TCGA-CZ-5453-01A-01D-1501-10	11019858	90768565	11762827	59	31942											
PIGQ	9091	hgsc.bcm.edu	37	16	633353	633354	+	Missense_Mutation	DNP	TG	TG	CA	rs112194445|rs710924|rs710925|rs71391136	byFrequency	TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:633353_633354TG>CA	ENST00000026218.5	+	10	2090_2091	c.2002_2003TG>CA	c.(2002-2004)TGt>CAt	p.C668H	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	668			C -> R (in dbSNP:rs710924).|C -> Y (in dbSNP:rs710925).		C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.C668R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCCACCCTGTGTACCCAGGTC	0.693																																																1	Substitution - Missense(1)	prostate(1)																																								SO:0001583	missense	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	Exception_encountered	16.37:g.633353_633354delinsCA	ENSP00000026218:p.Cys668His		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	CCDS10411.1																																																																																				0.693	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		CA	633354	TG	CA	633353	3	2	583	1	0	0	0	0	1	0	0	0	11898	1696	59	3	2102	3	PIGQ	16	633353	Missense_Mutation	DNP	TG	TCGA-CZ-5453-01A-01D-1501-10		633353	89721400	60	31943											
HIRIP3	8479	broad.mit.edu;hgsc.bcm.edu	37	16	30006455	30006455	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:30006455C>T	ENST00000279392.3	-	3	1100	c.270G>A	c.(268-270)gaG>gaA	p.E90E	HIRIP3_ENST00000564026.1_Silent_p.E90E|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000566471.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	90					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)		p.E90E(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						ACCTTTTTCTCTCCGGGTCGC	0.557																																																1	Substitution - coding silent(1)	kidney(1)											160	153	155					16																	30006455		2197	4300	6497	SO:0001819	synonymous_variant	8479			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.270G>A	16.37:g.30006455C>T			H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	CCDS10664.1																																																																																				0.557	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		T	30006455	C	T	30006455	2	4	583	1	0	0	0	0	0	0	0	1	7123	912	32	2		2	HIRIP3	16	30006455	Silent	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	29373102	30006455	60348298	61	31944											
PAPD5	64282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	50261849	50261849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:50261849C>T	ENST00000561678.1	+	10	1599	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	PAPD5_ENST00000436909.3_Nonsense_Mutation_p.Q619*|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000357464.3_Nonsense_Mutation_p.Q540*			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	493	Ser-rich.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)	p.Q619*(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAGTCCTCTCAGGCAGTTGG	0.488																																																1	Substitution - Nonsense(1)	kidney(1)											97	94	95					16																	50261849		1938	4148	6086	SO:0001587	stop_gained	64282			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1525C>T	16.37:g.50261849C>T	ENSP00000455837:p.Gln509*		B4DV38|Q9NW67|Q9Y6C0	Nonsense_Mutation	SNP	ENST00000561678.1	37		.	.	.	.	.	.	.	.	.	.	C	38	6.945051	0.97952	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	.	.	.	6.17	6.17	0.99709	.	0.544685	0.21364	N	0.075753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	619;540	.	ENSP00000350054:Q540X	Q	+	1	0	PAPD5	48819350	1.000000	0.71417	0.936000	0.37596	0.990000	0.78478	5.359000	0.66074	2.941000	0.99782	0.655000	0.94253	CAG		0.488	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		T	50261849	C	T	50261849	4	4	583	1	0	0	0	0	0	1	0	0	11427	827	29	2	1901	2	PAPD5	16	50261849	Nonsense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	20255394	50261849	40092904	62	31945											
RSPRY1	89970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57265167	57265167	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:57265167delA	ENST00000537866.1	+	13	2338	c.1465delA	c.(1465-1467)atgfs	p.M489fs	RSPRY1_ENST00000394420.4_Frame_Shift_Del_p.M489fs|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	489						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCCACCATCTATGAAATTTAG	0.368																																																0													110	105	106					16																	57265167		2198	4300	6498	SO:0001589	frameshift_variant	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1465delA	16.37:g.57265167delA	ENSP00000443176:p.Met489fs		Q6UX21|Q8ND53	Frame_Shift_Del	DEL	ENST00000537866.1	37	CCDS10775.1																																																																																				0.368	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		-	57265167	A	-	57265167	7	5	583	1	0	1	0	1	0	0	0	0	13719	449	16	0	1511	0	RSPRY1	16	57265167	Frame_Shift_Del	DEL	A	TCGA-CZ-5453-01A-01D-1501-10	7003318	57265167	33089586	63	31946											
SLC7A6	9057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68328656	68328656	+	Silent	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:68328656C>A	ENST00000566454.1	+	9	1340	c.1071C>A	c.(1069-1071)tcC>tcA	p.S357S	SLC7A6_ENST00000219343.6_Silent_p.S357S	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6									p.S357S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		ACCTTCTGTCCATGATCCACA	0.517																																																1	Substitution - coding silent(1)	kidney(1)											254	229	237					16																	68328656		2198	4300	6498	SO:0001819	synonymous_variant	9057			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"Solute carriers"	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.1071C>A	16.37:g.68328656C>A				Silent	SNP	ENST00000566454.1	37	CCDS32470.1																																																																																				0.517	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		A	68328656	C	A	68328656	2	1	583	1	0	0	0	0	0	0	0	1	14707	581	21	4		4	SLC7A6	16	68328656	Silent	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	11063489	68328656	22026097	64	31947											
RUNDC3A	10900	hgsc.bcm.edu	37	17	42393884	42393884	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr17:42393884A>T	ENST00000426726.3	+	9	1359	c.1085A>T	c.(1084-1086)tAc>tTc	p.Y362F	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.Y357F|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.Y362F|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	362					positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCAAGCTCTACCGGAGGTAA	0.652																																					Pancreas(82;1061 1416 11136 20771 23901)											0													13	14	14					17																	42393884		1908	4118	6026	SO:0001583	missense	10900			AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.1085A>T	17.37:g.42393884A>T	ENSP00000410862:p.Tyr362Phe		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	ENST00000426726.3	37	CCDS45698.1	.	.	.	.	.	.	.	.	.	.	a	14.73	2.621512	0.46736	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.52295	0.67;0.67	5.42	3.13	0.36017	.	0.153933	0.45126	N	0.000381	T	0.32882	0.0844	N	0.25890	0.77	0.40201	D	0.977514	B;B;B;B	0.14012	0.002;0.009;0.009;0.009	B;B;B;B	0.16722	0.005;0.016;0.016;0.016	T	0.07158	-1.0787	10	0.33141	T	0.24	-14.4766	10.1744	0.42931	0.7354:0.0:0.0:0.2646	.	362;362;357;362	Q59EK9;Q59EK9-4;Q59EK9-2;Q59EK9-3	RUN3A_HUMAN;.;.;.	F	362	ENSP00000410862:Y362F;ENSP00000225441:Y362F	ENSP00000225441:Y362F	Y	+	2	0	RUNDC3A	39749410	1.000000	0.71417	0.937000	0.37676	0.960000	0.62799	2.203000	0.42752	0.319000	0.23209	0.374000	0.22700	TAC		0.652	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		T	42393884	A	T	42393884	3	4	583	1	0	0	0	0	1	0	0	0	13750	391	14	5	1119	5	RUNDC3A	17	42393884	Missense_Mutation	SNP	A	TCGA-CZ-5453-01A-01D-1501-10		42393884	38801326	65	31948											
AMZ2	51321	broad.mit.edu;hgsc.bcm.edu	37	17	66251944	66251944	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr17:66251944C>A	ENST00000359904.3	+	6	1986	c.854C>A	c.(853-855)cCt>cAt	p.P285H	AMZ2_ENST00000577866.1_Missense_Mutation_p.P285H|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000359783.4_Missense_Mutation_p.P227H|AMZ2_ENST00000580753.1_Missense_Mutation_p.P285H|AMZ2_ENST00000392720.2_Missense_Mutation_p.P285H|AMZ2_ENST00000577985.1_Missense_Mutation_p.P285H|AMZ2_ENST00000585050.1_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	285							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P227H(1)|p.P285H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACCGGCGCCCTCTAAACCTT	0.498																																																2	Substitution - Missense(2)	kidney(2)											77	73	75					17																	66251944		2203	4300	6503	SO:0001583	missense	51321			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"archaemetzincin-2"	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.854C>A	17.37:g.66251944C>A	ENSP00000352976:p.Pro285His		A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540317	0.65085	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.72942	-0.7;-0.7;-0.7	3.64	2.63	0.31362	.	0.077420	0.50627	N	0.000104	D	0.85164	0.5634	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86800	0.1991	10	0.87932	D	0	-13.898	10.4937	0.44764	0.1955:0.8045:0.0:0.0	.	227;285	A6NLD9;Q86W34	.;AMZ2_HUMAN	H	285;227;285	ENSP00000352976:P285H;ENSP00000352831:P227H;ENSP00000376481:P285H	ENSP00000352831:P227H	P	+	2	0	AMZ2	63763539	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	6.355000	0.73041	1.050000	0.40346	0.467000	0.42956	CCT		0.498	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627		A	66251944	C	A	66251944	3	1	583	1	0	0	0	0	1	0	0	0	597	681	24	4	872	4	AMZ2	17	66251944	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	23858060	66251944	14943266	66	31949											
FN3K	64122	broad.mit.edu;ucsc.edu	37	17	80706748	80706748	+	Silent	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr17:80706748T>C	ENST00000300784.7	+	5	548	c.486T>C	c.(484-486)gaT>gaC	p.D162D		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	162					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)	p.D162D(1)		central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGTGGCAGGATGACTGGCCGA	0.577																																					Melanoma(10;391 597 14592 32548 32749)											1	Substitution - coding silent(1)	kidney(1)											71	69	70					17																	80706748		2203	4300	6503	SO:0001819	synonymous_variant	64122			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.486T>C	17.37:g.80706748T>C				Silent	SNP	ENST00000300784.7	37	CCDS11818.1																																																																																				0.577	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1	NM_022158		C	80706748	T	C	80706748	2	2	583	1	0	0	0	0	0	0	0	1	5965	1461	51	3		3	FN3K	17	80706748	Silent	SNP	T	TCGA-CZ-5453-01A-01D-1501-10	14454804	80706748	488462	67	31950											
PSTPIP2	9050	broad.mit.edu;hgsc.bcm.edu	37	18	43572169	43572169	+	Splice_Site	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr18:43572169C>A	ENST00000409746.5	-	11	813		c.e11-1		PSTPIP2_ENST00000588801.1_Intron|RN7SKP26_ENST00000410247.1_RNA|PSTPIP2_ENST00000589328.1_Intron	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2							cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						GTTCGTACATCTAATAAAAAA	0.423																																																1	Unknown(1)	kidney(1)											56	53	54					18																	43572169		1567	3582	5149	SO:0001630	splice_region_variant	9050				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.742-1G>T	18.37:g.43572169C>A				Splice_Site	SNP	ENST00000409746.5	37	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029649	0.35797	.	.	ENSG00000152229	ENST00000409746	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.64	0.91392	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSTPIP2	41826167	1.000000	0.71417	0.999000	0.59377	0.163000	0.22366	5.311000	0.65786	2.773000	0.95371	0.585000	0.79938	.		0.423	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1		Intron	A	43572169	C	A	43572169	5	1	583	1	0	0	0	0	0	0	1	0	12727	927	32	4	279	4	PSTPIP2	18	43572169	Splice_Site	SNP	C	TCGA-CZ-5453-01A-01D-1501-10		43572169	34505079	68	31951											
ZNF236	7776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	74620408	74620408	+	Silent	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr18:74620408G>A	ENST00000253159.8	+	14	2622	c.2424G>A	c.(2422-2424)acG>acA	p.T808T	ZNF236_ENST00000320610.9_Silent_p.T810T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	808					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T808T(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGCCGCAGACGGCAGAGGTGG	0.632																																																2	Substitution - coding silent(2)	kidney(2)											53	60	58					18																	74620408		2108	4212	6320	SO:0001819	synonymous_variant	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2424G>A	18.37:g.74620408G>A			B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	CCDS42447.1																																																																																				0.632	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			A	74620408	G	A	74620408	2	1	583	1	0	0	0	0	0	0	0	1	17794	1103	39	1		1	ZNF236	18	74620408	Silent	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	31048239	74620408	3456840	69	31952											
MRPL54	116541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3765311	3765311	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:3765311A>T	ENST00000330133.4	+	2	303	c.266A>T	c.(265-267)gAt>gTt	p.D89V		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	89						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)	p.D89V(1)		breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAAACCGGATGCTGAGTAC	0.577																																																1	Substitution - Missense(1)	kidney(1)											146	118	128					19																	3765311		2203	4300	6503	SO:0001583	missense	116541				CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"Mitochondrial ribosomal proteins / large subunits"	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.266A>T	19.37:g.3765311A>T	ENSP00000331849:p.Asp89Val			Missense_Mutation	SNP	ENST00000330133.4	37	CCDS12111.1	.	.	.	.	.	.	.	.	.	.	A	7.190	0.591313	0.13812	.	.	ENSG00000183617	ENST00000330133	.	.	.	4.69	4.69	0.59074	.	0.331422	0.29126	N	0.013080	T	0.67401	0.2889	M	0.86268	2.805	0.25903	N	0.983326	D	0.59357	0.985	P	0.61070	0.883	T	0.64575	-0.6375	9	0.87932	D	0	-14.8692	12.0926	0.53736	1.0:0.0:0.0:0.0	.	89	Q6P161	RM54_HUMAN	V	89	.	ENSP00000331849:D89V	D	+	2	0	MRPL54	3716311	0.875000	0.30112	0.057000	0.19452	0.028000	0.11728	3.349000	0.52217	1.732000	0.51606	0.379000	0.24179	GAT		0.577	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1	NM_172251		T	3765311	A	T	3765311	3	4	583	1	0	0	0	0	1	0	0	0	9820	333	12	5	272	5	MRPL54	19	3765311	Missense_Mutation	SNP	A	TCGA-CZ-5453-01A-01D-1501-10		3765311	55363672	70	31953											
SMARCA4	6597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11113809	11113809	+	Silent	SNP	G	G	T	rs187681043		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:11113809G>T	ENST00000429416.3	+	13	2198	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	SMARCA4_ENST00000444061.3_Silent_p.L639L|SMARCA4_ENST00000590574.1_Silent_p.L639L|SMARCA4_ENST00000413806.3_Silent_p.L639L|SMARCA4_ENST00000589677.1_Silent_p.L639L|SMARCA4_ENST00000344626.4_Silent_p.L639L|SMARCA4_ENST00000358026.2_Silent_p.L639L|SMARCA4_ENST00000541122.2_Silent_p.L639L|SMARCA4_ENST00000450717.3_Silent_p.L639L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	639					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L639L(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGGCAGCTGGAGGCCTGGC	0.627			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	3	Substitution - coding silent(2)|Unknown(1)	kidney(2)|lung(1)											63	69	67					19																	11113809		2203	4300	6503	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1917G>T	19.37:g.11113809G>T			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1																																																																																				0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		T	11113809	G	T	11113809	2	4	583	1	0	0	0	0	0	0	0	1	14776	1335	47	4		4	SMARCA4	19	11113809	Silent	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	7348498	11113809	48015174	71	31954											
BRD4	23476	hgsc.bcm.edu;ucsc.edu	37	19	15376312	15376314	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	GAC	GAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:15376312_15376314delGAC	ENST00000263377.2	-	5	921_923	c.700_702delGTC	c.(700-702)gtcdel	p.V234del	BRD4_ENST00000371835.4_In_Frame_Del_p.V234del|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_In_Frame_Del_p.V234del	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	234					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CAGGGGTCTGGACGATGAGGTCC	0.695			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0																																										SO:0001651	inframe_deletion	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.700_702delGTC	19.37:g.15376312_15376314delGAC	ENSP00000263377:p.Val234del		O60433|Q4G0X8|Q86YS8|Q96PD3	In_Frame_Del	DEL	ENST00000263377.2	37	CCDS12328.1																																																																																				0.695	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		-	15376314	GAC	-	15376312	7	5	583	1	0	1	0	1	0	0	0	0	1506	1161	41	0	3465	0	BRD4	19	15376312	In_Frame_Del	DEL	GAC	TCGA-CZ-5453-01A-01D-1501-10	4262503	15376312	43752671	72	31955	238	2									
BRD4	23476	hgsc.bcm.edu	37	19	15376316	15376316	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:15376316A>T	ENST00000263377.2	-	5	919	c.698T>A	c.(697-699)aTc>aAc	p.I233N	BRD4_ENST00000371835.4_Missense_Mutation_p.I233N|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.I233N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	233					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGTCTGGACGATGAGGTCCGG	0.687			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													98	109	105					19																	15376316		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.698T>A	19.37:g.15376316A>T	ENSP00000263377:p.Ile233Asn		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740220	0.69304	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.29655	1.56;3.27;3.25	5.28	4.27	0.50696	.	0.000000	0.64402	D	0.000008	T	0.46444	0.1393	L	0.54323	1.7	0.35785	D	0.821971	B;D;B	0.60575	0.003;0.988;0.023	B;D;B	0.72338	0.001;0.977;0.01	T	0.53613	-0.8414	10	0.35671	T	0.21	-19.2362	10.3682	0.44038	0.9208:0.0:0.0792:0.0	.	233;233;233	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	N	233	ENSP00000263377:I233N;ENSP00000360901:I233N;ENSP00000353112:I233N	ENSP00000263377:I233N	I	-	2	0	BRD4	15237316	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.268000	0.65536	0.952000	0.37798	0.379000	0.24179	ATC		0.687	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		T	15376316	A	T	15376316	3	4	583	1	0	0	0	0	1	0	0	0	1506	333	12	5	3469	5	BRD4	19	15376316	Missense_Mutation	SNP	A	TCGA-CZ-5453-01A-01D-1501-10	4	15376316	43752667	73	31956	238	2									
OR10H3	26532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15852604	15852604	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:15852604C>T	ENST00000305892.1	+	1	402	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N134N(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGCATTACAACATGCTAATGA	0.517																																																1	Substitution - coding silent(1)	kidney(1)											225	180	195					19																	15852604		2203	4300	6503	SO:0001819	synonymous_variant	26532				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.402C>T	19.37:g.15852604C>T			Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	CCDS12334.1																																																																																				0.517	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			T	15852604	C	T	15852604	2	4	583	1	0	0	0	0	0	0	0	1	10909	477	17	2		2	OR10H3	19	15852604	Silent	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	476288	15852604	43276379	74	31957											
OCEL1	79629	broad.mit.edu;hgsc.bcm.edu	37	19	17338790	17338790	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:17338790C>G	ENST00000215061.4	+	4	638	c.594C>G	c.(592-594)agC>agG	p.S198R	OCEL1_ENST00000601529.1_Intron|OCEL1_ENST00000597836.1_Missense_Mutation_p.S142R	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	198								p.S198R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CCCTGCTGAGCTCCCTGCCCC	0.647																																																1	Substitution - Missense(1)	kidney(1)											60	57	58					19																	17338790		2203	4300	6503	SO:0001583	missense	79629			BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.594C>G	19.37:g.17338790C>G	ENSP00000215061:p.Ser198Arg			Missense_Mutation	SNP	ENST00000215061.4	37	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	C	1.263	-0.615162	0.03663	.	.	ENSG00000099330	ENST00000215061	T	0.21932	1.98	4.52	0.862	0.19056	Occludin/RNA polymerase II elongation factor, ELL domain (1);	1.645480	0.03028	N	0.151728	T	0.13329	0.0323	N	0.20401	0.57	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.22626	-1.0211	10	0.31617	T	0.26	-9.5826	2.8251	0.05483	0.1784:0.5279:0.188:0.1057	.	198	Q9H607	OCEL1_HUMAN	R	198	ENSP00000215061:S198R	ENSP00000215061:S198R	S	+	3	2	OCEL1	17199790	0.000000	0.05858	0.050000	0.19076	0.012000	0.07955	0.105000	0.15333	0.459000	0.27016	0.561000	0.74099	AGC		0.647	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		G	17338790	C	G	17338790	3	3	583	1	0	0	0	0	1	0	0	0	10818	796	28	4	608	4	OCEL1	19	17338790	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	1486186	17338790	41790193	75	31958											
PDCD2L	84306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	34904640	34904640	+	Splice_Site	SNP	A	A	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:34904640A>C	ENST00000246535.3	+	5	733		c.e5-1		PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like						cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.?(1)		breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTCTGTTTTTAGCCTTCCTAA	0.313																																																1	Unknown(1)	kidney(1)											73	75	74					19																	34904640		2203	4300	6503	SO:0001630	splice_region_variant	84306			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.687-1A>C	19.37:g.34904640A>C				Splice_Site	SNP	ENST00000246535.3	37	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	A	7.920	0.738277	0.15574	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.37	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2064	0.43116	0.8326:0.1674:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDCD2L	39596480	1.000000	0.71417	0.156000	0.22583	0.049000	0.14656	3.472000	0.53114	0.846000	0.35142	0.482000	0.46254	.		0.313	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346	Intron	C	34904640	A	C	34904640	5	2	583	1	0	0	0	0	0	0	1	0	11622	434	15	5	703	5	PDCD2L	19	34904640	Splice_Site	SNP	A	TCGA-CZ-5453-01A-01D-1501-10	17565850	34904640	24224343	76	31959											
FOSB	2354	broad.mit.edu	37	19	45974531	45974531	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:45974531G>A	ENST00000353609.3	+	3	1119	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	FOSB_ENST00000591858.1_Missense_Mutation_p.R137Q|FOSB_ENST00000590335.1_3'UTR|FOSB_ENST00000592436.1_Missense_Mutation_p.R176Q|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000417353.2_Intron|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000586615.1_Missense_Mutation_p.R127Q|FOSB_ENST00000592811.1_Missense_Mutation_p.R127Q	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	176	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R176Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AGGAACCGGCGGAGGGAGCTG	0.622																																																1	Substitution - Missense(1)	kidney(1)											46	33	37					19																	45974531		2172	4254	6426	SO:0001583	missense	2354				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.527G>A	19.37:g.45974531G>A	ENSP00000245919:p.Arg176Gln		A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524158	0.96431	.	.	ENSG00000125740	ENST00000353609;ENST00000455928	T	0.56776	0.44	4.51	4.51	0.55191	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.75703	-0.3225	10	0.87932	D	0	-2.9587	14.7514	0.69528	0.0:0.0:1.0:0.0	.	137;176	A8VJF0;P53539	.;FOSB_HUMAN	Q	176	ENSP00000245919:R176Q	ENSP00000245919:R176Q	R	+	2	0	FOSB	50666371	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.214000	0.95140	2.349000	0.79799	0.561000	0.74099	CGG		0.622	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		A	45974531	G	A	45974531	3	1	583	1	0	0	0	0	1	0	0	0	5988	1116	39	1	537	1	FOSB	19	45974531	Missense_Mutation	SNP	G	TCGA-CZ-5453-01A-01D-1501-10	11069891	45974531	13154452	77	31960											
CCDC9	26093	broad.mit.edu	37	19	47763878	47763878	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:47763878delG	ENST00000221922.6	+	5	466	c.244delG	c.(244-246)gggfs	p.G82fs		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	82							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGTCTCCTGGGACCCCTCG	0.701																																																0													28	31	30					19																	47763878		1964	4053	6017	SO:0001589	frameshift_variant	26093			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.244delG	19.37:g.47763878delG	ENSP00000221922:p.Gly82fs			Frame_Shift_Del	DEL	ENST00000221922.6	37	CCDS12698.1																																																																																				0.701	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		-	47763878	G	-	47763878	7	5	583	1	0	1	0	1	0	0	0	0	2869	1348	47	0	258	0	CCDC9	19	47763878	Frame_Shift_Del	DEL	G	TCGA-CZ-5453-01A-01D-1501-10	1789347	47763878	11365105	78	31961											
TNNT1	7138	broad.mit.edu;hgsc.bcm.edu	37	19	55645562	55645562	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:55645562C>G	ENST00000588981.1	-	12	826	c.622G>C	c.(622-624)Gcc>Ccc	p.A208P	TNNT1_ENST00000585321.2_Intron|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000291901.8_Intron|TNNT1_ENST00000356783.5_Intron|TNNT1_ENST00000587465.2_Intron|TNNT1_ENST00000587758.1_Intron|TNNT1_ENST00000536926.1_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	208					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)	p.A208P(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGCAGCCAGGCAGACCGGGCC	0.622																																																1	Substitution - Missense(1)	kidney(1)											18	18	18					19																	55645562		2196	4292	6488	SO:0001583	missense	7138				CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"slow skeletal muscle troponin T", "troponin T1, skeletal, slow", "nemaline myopathy type 5"	191041	"troponin T1, skeletal, slow"			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.622G>C	19.37:g.55645562C>G	ENSP00000467176:p.Ala208Pro		O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	c	9.212	1.031190	0.19590	.	.	ENSG00000105048	ENST00000291901	.	.	.	2.71	0.318	0.15867	.	.	.	.	.	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23404	-1.0189	8	0.28530	T	0.3	.	4.8648	0.13602	0.2474:0.5112:0.2414:0.0	.	208	P13805	TNNT1_HUMAN	P	208	.	ENSP00000291901:A208P	A	-	1	0	TNNT1	60337374	0.000000	0.05858	0.004000	0.12327	0.026000	0.11368	-0.376000	0.07465	0.164000	0.19529	0.443000	0.29094	GCC		0.622	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		G	55645562	C	G	55645562	3	3	583	1	0	0	0	0	1	0	0	0	16335	710	25	4	226	4	TNNT1	19	55645562	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	7881684	55645562	3483421	79	31962											
KRTAP10-10	353333	hgsc.bcm.edu	37	21	46057625	46057625	+	Silent	SNP	T	T	C	rs66931310|rs56249559|rs55677560	byFrequency	TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr21:46057625T>C	ENST00000380095.1	+	1	353	c.291T>C	c.(289-291)ccT>ccC	p.P97P	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	97	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						gctgtgtgcctgtctgctgtg	0.622																																																0													82	79	80					21																	46057625		2132	4094	6226	SO:0001819	synonymous_variant	353333			AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.291T>C	21.37:g.46057625T>C				Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																				0.622	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		C	46057625	T	C	46057625	2	2	583	1	0	0	0	0	0	0	0	1	8508	1567	55	3		3	KRTAP10-10	21	46057625	Silent	SNP	T	TCGA-CZ-5453-01A-01D-1501-10		46057625	2072270	80	31963											
POTEH	23784	hgsc.bcm.edu	37	22	16287868	16287869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr22:16287868_16287869insC	ENST00000343518.6	-	1	68_69	c.17_18insG	c.(16-18)ggtfs	p.G6fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	6										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCGGCATTGAACCAGCCTCAGC	0.584																																																0																																										SO:0001589	frameshift_variant	23784			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.18dupG	22.37:g.16287870_16287870dupC	ENSP00000340610:p.Gly6fs		A2CEK4|A6NCI1|A9Z1W0	Frame_Shift_Ins	INS	ENST00000343518.6	37	CCDS46658.1																																																																																				0.584	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		C	16287869	-	C	16287868	7	5	583	1	0	1	1	0	0	0	0	0	12269	30	2	0	1659	0	POTEH	22	16287868	Frame_Shift_Ins	INS	-	TCGA-CZ-5453-01A-01D-1501-10		16287868	35016698	81	31964											
SLC5A4	6527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32633231	32633231	+	Splice_Site	SNP	C	C	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr22:32633231C>G	ENST00000266086.4	-	7	675	c.664G>C	c.(664-666)Gca>Cca	p.A222P	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	222					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.A222P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATCACTTACCAAACCCCATG	0.502																																																1	Substitution - Missense(1)	kidney(1)											81	58	66					22																	32633231		2203	4300	6503	SO:0001630	splice_region_variant	6527			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.664+1G>C	22.37:g.32633231C>G			O15279	Missense_Mutation	SNP	ENST00000266086.4	37	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.018176	0.75275	.	.	ENSG00000100191	ENST00000266086	D	0.89485	-2.52	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.95799	0.8633	H	0.94808	3.585	0.80722	D	1	D	0.53619	0.961	D	0.70227	0.968	D	0.96734	0.9541	9	.	.	.	.	15.2227	0.73327	0.0:1.0:0.0:0.0	.	222	Q9NY91	SC5A4_HUMAN	P	222	ENSP00000266086:A222P	.	A	-	1	0	SLC5A4	30963231	1.000000	0.71417	0.981000	0.43875	0.683000	0.39861	4.606000	0.61126	2.541000	0.85698	0.655000	0.94253	GCA		0.502	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	Missense_Mutation	G	32633231	C	G	32633231	5	3	583	1	0	0	0	0	0	0	1	0	14673	608	21	4	1351	4	SLC5A4	22	32633231	Splice_Site	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	16345363	32633231	18671335	82	31965											
BRD1	23774	broad.mit.edu;hgsc.bcm.edu	37	22	50187904	50187904	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr22:50187904C>T	ENST00000216267.8	-	6	2623	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S	BRD1_ENST00000542442.1_Missense_Mutation_p.G401S|BRD1_ENST00000342989.5_Missense_Mutation_p.G308S|BRD1_ENST00000404034.1_Missense_Mutation_p.G713S|BRD1_ENST00000457780.2_Missense_Mutation_p.G713S|BRD1_ENST00000404760.1_Missense_Mutation_p.G713S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	713					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.G308S(1)|p.G713S(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCTCCAGGCCCAGGTGGGCT	0.597																																																2	Substitution - Missense(2)	kidney(2)											62	66	65					22																	50187904		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2137G>A	22.37:g.50187904C>T	ENSP00000216267:p.Gly713Ser		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	7.624	0.677490	0.14841	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.25250	2.75;2.75;2.79;2.62;1.81;2.26	5.4	-3.46	0.04767	.	0.623994	0.18309	N	0.145173	T	0.03136	0.0092	N	0.00246	-1.78	0.23430	N	0.997696	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.39502	-0.9611	10	0.02654	T	1	.	1.9391	0.03342	0.162:0.3498:0.096:0.3921	.	713;308;713;713	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	S	713;713;713;713;401;308;173	ENSP00000216267:G713S;ENSP00000384076:G713S;ENSP00000385858:G713S;ENSP00000410042:G713S;ENSP00000437514:G401S;ENSP00000345886:G308S	ENSP00000216267:G713S	G	-	1	0	BRD1	48573908	0.992000	0.36948	0.508000	0.27688	0.964000	0.63967	0.448000	0.21726	-0.125000	0.11703	-0.136000	0.14681	GGC		0.597	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		T	50187904	C	T	50187904	3	4	583	1	0	0	0	0	1	0	0	0	1503	623	22	2	1067	2	BRD1	22	50187904	Missense_Mutation	SNP	C	TCGA-CZ-5453-01A-01D-1501-10	17554673	50187904	1116662	83	31966											
MID1	4281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	10427708	10427708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chrX:10427708delC	ENST00000317552.4	-	8	1825	c.1425delG	c.(1423-1425)gagfs	p.E475fs	MID1_ENST00000453318.2_Frame_Shift_Del_p.E475fs|MID1_ENST00000380785.1_Frame_Shift_Del_p.E475fs|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380779.1_Frame_Shift_Del_p.E475fs|MID1_ENST00000380787.1_Frame_Shift_Del_p.E475fs|MID1_ENST00000380780.1_Frame_Shift_Del_p.E475fs|MID1_ENST00000380782.2_Frame_Shift_Del_p.E475fs	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	475	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACTTCCCAGGCTCACTGCTGC	0.522																																																0													164	130	142					X																	10427708		2203	4300	6503	SO:0001589	frameshift_variant	4281			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1425delG	X.37:g.10427708delC	ENSP00000312678:p.Glu475fs		B2RCG2|O75361|Q9BZX5	Frame_Shift_Del	DEL	ENST00000317552.4	37	CCDS14138.1																																																																																				0.522	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			-	10427708	C	-	10427708	7	5	583	1	0	1	0	1	0	0	0	0	9578	796	28	0	590	0	MID1	23	10427708	Frame_Shift_Del	DEL	C	TCGA-CZ-5453-01A-01D-1501-10		10427708	144842852	84	31967											
ZMAT1	84460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101138798	101138799	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chrX:101138798_101138799delTG	ENST00000372782.3	-	7	1647_1648	c.1600_1601delCA	c.(1600-1602)catfs	p.H534fs	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Frame_Shift_Del_p.H534fs|ZMAT1_ENST00000458570.1_Frame_Shift_Del_p.H363fs	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	534						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTCTGTTTATGACCTGCTTGA	0.391																																																0																																										SO:0001589	frameshift_variant	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1600_1601delCA	X.37:g.101138798_101138799delTG	ENSP00000361868:p.His534fs		Q8NDS3|Q96JN6	Frame_Shift_Del	DEL	ENST00000372782.3	37	CCDS35348.1																																																																																				0.391	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			-	101138799	TG	-	101138798	7	5	583	1	0	1	0	1	0	0	0	0	17696	1464	51	0	319	0	ZMAT1	23	101138798	Frame_Shift_Del	DEL	TG	TCGA-CZ-5453-01A-01D-1501-10	90711090	101138798	54131762	85	31968	239	2									
ZMAT1	84460	broad.mit.edu;hgsc.bcm.edu	37	X	101138801	101138810	+	Frame_Shift_Del	DEL	CCTGCTTGAT	CCTGCTTGAT	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	CCTGCTTGAT	CCTGCTTGAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chrX:101138801_101138810delCCTGCTTGAT	ENST00000372782.3	-	7	1636_1645	c.1589_1598delATCAAGCAGG	c.(1588-1599)catcaagcaggtfs	p.HQAG530fs	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Frame_Shift_Del_p.HQAG530fs|ZMAT1_ENST00000458570.1_Frame_Shift_Del_p.HQAG359fs	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	530						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTGTTTATGACCTGCTTGATGGTCAGCAGT	0.4																																																0																																										SO:0001589	frameshift_variant	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1589_1598delATCAAGCAGG	X.37:g.101138801_101138810delCCTGCTTGAT	ENSP00000361868:p.His530fs		Q8NDS3|Q96JN6	Frame_Shift_Del	DEL	ENST00000372782.3	37	CCDS35348.1																																																																																				0.4	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			-	101138810	CCTGCTTGAT	-	101138801	7	5	583	1	0	1	0	1	0	0	0	0	17696	507	18	0	322	0	ZMAT1	23	101138801	Frame_Shift_Del	DEL	CCTGCTTGAT	TCGA-CZ-5453-01A-01D-1501-10	3	101138801	54131759	86	31969	239	2									
MAP7D3	79649	hgsc.bcm.edu	37	X	135328306	135328306	+	Splice_Site	SNP	T	T	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chrX:135328306T>A	ENST00000316077.9	-	3	391	c.171A>T	c.(169-171)gtA>gtT	p.V57V	MAP7D3_ENST00000370661.1_Splice_Site_p.V57V|MAP7D3_ENST00000370663.5_Splice_Site_p.V39V	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	57					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ATCCATCGATTACTAAAAAAA	0.308																																																0													110	92	98					X																	135328306		1801	4063	5864	SO:0001630	splice_region_variant	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.170-1A>T	X.37:g.135328306T>A			A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	CCDS44004.1																																																																																				0.308	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		Silent	A	135328306	T	A	135328306	5	1	583	1	0	0	0	0	0	0	1	0	9271	1768	61	5	2523	5	MAP7D3	23	135328306	Splice_Site	SNP	T	TCGA-CZ-5453-01A-01D-1501-10	34189505	135328306	19942254	87	31970											
RENBP	5973	broad.mit.edu;hgsc.bcm.edu	37	X	153205589	153205589	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chrX:153205589A>G	ENST00000393700.3	-	9	1123	c.1043T>C	c.(1042-1044)cTc>cCc	p.L348P	RENBP_ENST00000369997.3_Missense_Mutation_p.L334P|RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	348					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)	p.L348P(1)|p.L338P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TTGGTAGAAGAGGCGCAGCAG	0.607																																																2	Substitution - Missense(2)	kidney(2)											125	89	101					X																	153205589		2203	4300	6503	SO:0001583	missense	5973				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.1043T>C	X.37:g.153205589A>G	ENSP00000377303:p.Leu348Pro		B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	A	12.52	1.961353	0.34565	.	.	ENSG00000102032	ENST00000393700;ENST00000369997;ENST00000451114	T;T;T	0.32515	1.52;1.52;1.45	4.79	3.57	0.40892	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.277265	0.33670	N	0.004679	T	0.45895	0.1365	M	0.73962	2.25	0.39267	D	0.96432	D	0.76494	0.999	P	0.61592	0.891	T	0.42799	-0.9430	10	0.45353	T	0.12	-8.0936	5.7563	0.18174	0.6578:0.1727:0.0:0.1695	.	348	P51606	RENBP_HUMAN	P	348;334;27	ENSP00000377303:L348P;ENSP00000359014:L334P;ENSP00000409034:L27P	ENSP00000359014:L334P	L	-	2	0	RENBP	152858783	0.142000	0.22610	0.404000	0.26397	0.175000	0.22909	0.582000	0.23834	0.569000	0.29329	0.486000	0.48141	CTC		0.607	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		G	153205589	A	G	153205589	3	3	583	1	0	0	0	0	1	0	0	0	13231	304	11	3	252	3	RENBP	23	153205589	Missense_Mutation	SNP	A	TCGA-CZ-5453-01A-01D-1501-10	17877283	153205589	2064971	88	31971											
GTDC1	79712	hgsc.bcm.edu;ucsc.edu	37	2	144899563	144899564	+	Frame_Shift_Del	DEL	GA	GA	-	rs114650281	byFrequency	TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr2:144899563_144899564delGA	ENST00000392869.2	-	5	558_559	c.406_407delTC	c.(406-408)tccfs	p.S136fs	GTDC1_ENST00000463875.2_Frame_Shift_Del_p.S7fs|GTDC1_ENST00000241391.5_Frame_Shift_Del_p.S136fs|GTDC1_ENST00000542155.1_Frame_Shift_Del_p.S136fs|GTDC1_ENST00000344850.4_Frame_Shift_Del_p.S136fs|GTDC1_ENST00000409214.1_Frame_Shift_Del_p.S136fs|GTDC1_ENST00000409298.1_Frame_Shift_Del_p.S136fs|GTDC1_ENST00000392867.3_Frame_Shift_Del_p.S136fs	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	136					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTTTCCCATGGAAGTGAGAAAT	0.406																																																0																																										SO:0001589	frameshift_variant	79712			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.406_407delTC	2.37:g.144899563_144899564delGA	ENSP00000376608:p.Ser136fs		A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Frame_Shift_Del	DEL	ENST00000392869.2	37	CCDS33300.1																																																																																				0.406	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		-	144899564	GA	-	144899563	7	5	584	1	0	1	0	1	0	0	0	0	6853	1174	41	0	997	0	GTDC1	2	144899563	Frame_Shift_Del	DEL	GA	TCGA-CZ-5454-01A-01D-1501-10		144899563	98299810	1	31972											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52696199	52696199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr3:52696199C>A	ENST00000296302.7	-	4	479	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E160*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E160*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E160*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E160*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E160*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E160*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E160*			Q86U86	PB1_HUMAN	polybromo 1	160			E -> A (found in a malignant melanoma cell line). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E160*(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATCATCTTCGTCATCTGCT	0.453			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											333	291	306					3																	52696199		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.478G>T	3.37:g.52696199C>A	ENSP00000296302:p.Glu160*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	25.5	4.643951	0.87859	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	.	.	.	5.5	5.5	0.81552	.	0.298816	0.36066	N	0.002804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-2.7705	19.4035	0.94640	0.0:1.0:0.0:0.0	.	.	.	.	X	160;160;160;160;160;160;160;160;160;104;160	.	ENSP00000296302:E160X	E	-	1	0	PBRM1	52671239	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	7.277000	0.78572	2.590000	0.87494	0.650000	0.86243	GAA		0.453	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52696199	C	A	52696199	4	1	584	1	0	0	0	0	0	1	0	0	11493	893	31	4	4530	4	PBRM1	3	52696199	Nonsense_Mutation	SNP	C	TCGA-CZ-5454-01A-01D-1501-10		52696199	145326231	2	31973											
NR1I2	8856	broad.mit.edu;hgsc.bcm.edu	37	3	119528965	119528965	+	Silent	SNP	G	G	A			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr3:119528965G>A	ENST00000337940.4	+	3	420	c.372G>A	c.(370-372)gaG>gaA	p.E124E	NR1I2_ENST00000466380.1_Silent_p.E85E|NR1I2_ENST00000393716.2_Silent_p.E85E	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	85	Hinge.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E124E(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	GCGCCTGCGAGATCACCCGGA	0.692																																																1	Substitution - coding silent(1)	kidney(1)											18	23	22					3																	119528965		2203	4300	6503	SO:0001819	synonymous_variant	8856			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.372G>A	3.37:g.119528965G>A			Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Silent	SNP	ENST00000337940.4	37	CCDS2995.1																																																																																				0.692	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			A	119528965	G	A	119528965	2	1	584	1	0	0	0	0	0	0	0	1	10622	933	33	2		2	NR1I2	3	119528965	Silent	SNP	G	TCGA-CZ-5454-01A-01D-1501-10	66832766	119528965	78493465	3	31974											
LMLN	89782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	197748373	197748373	+	Silent	SNP	C	C	A			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr3:197748373C>A	ENST00000330198.4	+	13	1444	c.1422C>A	c.(1420-1422)tcC>tcA	p.S474S	LMLN_ENST00000482695.1_Silent_p.S459S|LMLN_ENST00000332636.5_Silent_p.S422S|LMLN_ENST00000420910.2_Silent_p.S511S	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	474					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S474S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		ATGGTGGCTCCGTGGAAATTG	0.393																																																1	Substitution - coding silent(1)	kidney(1)											169	168	168					3																	197748373		2203	4300	6503	SO:0001819	synonymous_variant	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1422C>A	3.37:g.197748373C>A			B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	CCDS3332.1																																																																																				0.393	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		A	197748373	C	A	197748373	2	1	584	1	0	0	0	0	0	0	0	1	8849	639	23	4		4	LMLN	3	197748373	Silent	SNP	C	TCGA-CZ-5454-01A-01D-1501-10	78219408	197748373	274057	4	31975											
RFC1	5981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	39297338	39297338	+	Silent	SNP	C	C	T			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr4:39297338C>T	ENST00000381897.1	-	22	2986	c.2853G>A	c.(2851-2853)ggG>ggA	p.G951G	RNU6-32P_ENST00000383948.1_RNA|RFC1_ENST00000349703.2_Silent_p.G950G	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	951					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.G951G(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGGTCATGTACCCCCTCATCA	0.458																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											1	Substitution - coding silent(1)	kidney(1)											100	88	92					4																	39297338		2203	4300	6503	SO:0001819	synonymous_variant	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2853G>A	4.37:g.39297338C>T			A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	ENST00000381897.1	37	CCDS56329.1																																																																																				0.458	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		T	39297338	C	T	39297338	2	4	584	1	0	0	0	0	0	0	0	1	13250	494	18	2		2	RFC1	4	39297338	Silent	SNP	C	TCGA-CZ-5454-01A-01D-1501-10		39297338	151856938	5	31976											
GALNT7	51809	broad.mit.edu;ucsc.edu	37	4	174216550	174216550	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr4:174216550A>G	ENST00000265000.4	+	4	841	c.758A>G	c.(757-759)cAc>cGc	p.H253R	GALNT7_ENST00000502407.1_3'UTR|GALNT7_ENST00000512285.1_Missense_Mutation_p.H253R	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	253	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.H253R(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TTAACAGAACACTTAAAAGAA	0.313																																																1	Substitution - Missense(1)	kidney(1)											65	73	70					4																	174216550		2200	4298	6498	SO:0001583	missense	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.758A>G	4.37:g.174216550A>G	ENSP00000265000:p.His253Arg		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.75|19.75	3.885746|3.885746	0.72410|0.72410	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000;ENST00000512285;ENST00000458613|ENST00000505308	T;T|.	0.58940|.	0.3;0.3|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Glycosyl transferase, family 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78534|0.78534	0.4298|0.4298	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.72625|.	0.978;0.959|.	T|T	0.80390|0.80390	-0.1402|-0.1402	10|5	0.87932|.	D|.	0|.	.|.	16.0676|16.0676	0.80897|0.80897	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	30;253|.	B4DIB4;Q86SF2|.	.;GALT7_HUMAN|.	R|A	253;253;30|50	ENSP00000265000:H253R;ENSP00000427050:H253R|.	ENSP00000265000:H253R|.	H|T	+|+	2|1	0|0	GALNT7|GALNT7	174453125|174453125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.708000|0.708000	0.40852|0.40852	8.395000|8.395000	0.90188|0.90188	2.201000|2.201000	0.70794|0.70794	0.533000|0.533000	0.62120|0.62120	CAC|ACT		0.313	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		G	174216550	A	G	174216550	3	3	584	1	0	0	0	0	1	0	0	0	6220	159	6	3	772	3	GALNT7	4	174216550	Missense_Mutation	SNP	A	TCGA-CZ-5454-01A-01D-1501-10	134919212	174216550	16937726	6	31977											
TTC37	9652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	94876456	94876456	+	Silent	SNP	T	T	G			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr5:94876456T>G	ENST00000358746.2	-	8	779	c.481A>C	c.(481-483)Aga>Cga	p.R161R		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	161						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.R161R(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTCAATTTTCTCCATAGTTGA	0.378																																																1	Substitution - coding silent(1)	kidney(1)											171	165	167					5																	94876456		2203	4300	6503	SO:0001819	synonymous_variant	9652			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.481A>C	5.37:g.94876456T>G			O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	CCDS4072.1																																																																																				0.378	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		G	94876456	T	G	94876456	2	3	584	1	0	0	0	0	0	0	0	1	16710	1559	54	5		5	TTC37	5	94876456	Silent	SNP	T	TCGA-CZ-5454-01A-01D-1501-10		94876456	86038804	7	31978											
TRAF3IP2	10758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	111913024	111913024	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr6:111913024T>A	ENST00000340026.6	-	3	887	c.293A>T	c.(292-294)gAg>gTg	p.E98V	TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.E89V|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.E89V|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	98	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.E98V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TTCACTGTCCTCCAGAACTTG	0.567																																																1	Substitution - Missense(1)	kidney(1)											64	66	65					6																	111913024		2203	4300	6503	SO:0001583	missense	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.293A>T	6.37:g.111913024T>A	ENSP00000345984:p.Glu98Val		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37		.	.	.	.	.	.	.	.	.	.	T	15.14	2.745022	0.49151	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.51071	0.76;0.74;0.72	5.91	4.75	0.60458	.	0.077674	0.56097	D	0.000039	T	0.27798	0.0684	M	0.61703	1.905	0.80722	D	1	B;P;B	0.40431	0.441;0.717;0.162	B;B;B	0.37198	0.087;0.243;0.037	T	0.20140	-1.0284	10	0.66056	D	0.02	-2.0436	7.9929	0.30250	0.1225:0.0:0.2776:0.5999	.	98;89;89	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	V	98;89;98;89	ENSP00000357750:E89V;ENSP00000345984:E98V;ENSP00000352889:E89V	ENSP00000345984:E98V	E	-	2	0	TRAF3IP2	112019717	0.998000	0.40836	1.000000	0.80357	0.948000	0.59901	0.734000	0.26101	1.044000	0.40200	0.454000	0.30748	GAG		0.567	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			A	111913024	T	A	111913024	3	1	584	1	0	0	0	0	1	0	0	0	16446	1551	54	5	1463	5	TRAF3IP2	6	111913024	Missense_Mutation	SNP	T	TCGA-CZ-5454-01A-01D-1501-10		111913024	59202043	8	31979											
ARG1	383	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	131904255	131904256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr6:131904255_131904256insT	ENST00000368087.3	+	6	755_756	c.616_617insT	c.(616-618)ctafs	p.L206fs	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Frame_Shift_Ins_p.L214fs			P05089	ARGI1_HUMAN	arginase 1	206					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AGTGGACAGACTAGGAATTGGC	0.356																																																0																																										SO:0001589	frameshift_variant	383				CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"arginase, liver"			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.617dupT	6.37:g.131904256_131904256dupT	ENSP00000357066:p.Leu206fs		A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Frame_Shift_Ins	INS	ENST00000368087.3	37	CCDS5145.1																																																																																				0.356	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			T	131904256	-	T	131904255	7	5	584	1	0	1	1	0	0	0	0	0	857	564	20	0	638	0	ARG1	6	131904255	Frame_Shift_Ins	INS	-	TCGA-CZ-5454-01A-01D-1501-10	19991231	131904255	39210812	9	31980											
GPNMB	10457	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23309735	23309735	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr7:23309735C>T	ENST00000381990.2	+	9	1567	c.1406C>T	c.(1405-1407)aCc>aTc	p.T469I	GPNMB_ENST00000453162.2_Missense_Mutation_p.T411I|GPNMB_ENST00000539136.1_Missense_Mutation_p.T358I|GPNMB_ENST00000258733.4_Missense_Mutation_p.T457I	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	469					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.T469I(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GTGAACCTCACCCTGGGGGAT	0.512																																																1	Substitution - Missense(1)	kidney(1)											168	129	143					7																	23309735		2203	4300	6503	SO:0001583	missense	10457			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1406C>T	7.37:g.23309735C>T	ENSP00000371420:p.Thr469Ile		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265156	0.59431	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.18338	2.24;2.23;2.24;2.22	6.03	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	M	0.82923	2.615	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	T	0.55976	-0.8055	10	0.72032	D	0.01	-21.0222	17.4798	0.87670	0.0:0.876:0.124:0.0	.	358;411;469;457	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	I	457;504;469;352;358;411	ENSP00000258733:T457I;ENSP00000371420:T469I;ENSP00000445266:T358I;ENSP00000405586:T411I	ENSP00000258733:T457I	T	+	2	0	GPNMB	23276260	1.000000	0.71417	0.988000	0.46212	0.119000	0.20118	6.260000	0.72502	1.553000	0.49476	0.557000	0.71058	ACC		0.512	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		T	23309735	C	T	23309735	3	4	584	1	0	0	0	0	1	0	0	0	6622	507	18	2	1440	2	GPNMB	7	23309735	Missense_Mutation	SNP	C	TCGA-CZ-5454-01A-01D-1501-10		23309735	135828928	10	31981											
YTHDF3	253943	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	64099319	64099319	+	Silent	SNP	G	G	A	rs61745071		TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr8:64099319G>A	ENST00000539294.1	+	4	1063	c.747G>A	c.(745-747)ccG>ccA	p.P249P	YTHDF3_ENST00000542911.2_Silent_p.P60P|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	250							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AACCTCAACCGAAACTTAAAC	0.488																																																0								G		4,3906		0,4,1951	105	106	106		749	4.8	1	8	dbSNP_129	106	0,8300		0,0,4150	no	coding-synonymous	YTHDF3	NM_152758.4		0,4,6101	AA,AG,GG		0.0,0.1023,0.0328		250/586	64099319	4,12206	1955	4150	6105	SO:0001819	synonymous_variant	253943			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"YTH domain family 3"			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.747G>A	8.37:g.64099319G>A			B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37																																																																																					0.488	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		A	64099319	G	A	64099319	2	1	584	1	0	0	0	0	0	0	0	1	17505	1058	37	1		1	YTHDF3	8	64099319	Silent	SNP	G	TCGA-CZ-5454-01A-01D-1501-10		64099319	82264703	11	31982											
STMN2	11075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	80549106	80549106	+	Missense_Mutation	SNP	G	G	A	rs200432248		TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr8:80549106G>A	ENST00000220876.7	+	2	471	c.89G>A	c.(88-90)cGc>cAc	p.R30H	STMN2_ENST00000518111.1_Missense_Mutation_p.R30H|STMN2_ENST00000518491.1_Missense_Mutation_p.R19H	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	30					cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)	p.R30H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CCGGAACCTCGCAACATCAAC	0.393																																																1	Substitution - Missense(1)	kidney(1)						G	HIS/ARG,HIS/ARG	2,3842		0,2,1920	115	104	108		89,89	5.5	1	8		108	0,8298		0,0,4149	yes	missense,missense	STMN2	NM_001199214.1,NM_007029.3	29,29	0,2,6069	AA,AG,GG		0.0,0.052,0.0165	benign,benign	30/188,30/180	80549106	2,12140	1922	4149	6071	SO:0001583	missense	11075				CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"stathmin-like 2"	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.89G>A	8.37:g.80549106G>A	ENSP00000220876:p.Arg30His		A8K9M2|G3V110|O14952|Q6PK68	Missense_Mutation	SNP	ENST00000220876.7	37	CCDS43748.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912331	0.33721	5.2E-4	0.0	ENSG00000104435	ENST00000220876;ENST00000414622;ENST00000518111;ENST00000518491	.	.	.	5.52	5.52	0.82312	.	0.044063	0.85682	D	0.000000	T	0.51584	0.1683	L	0.34521	1.04	0.80722	D	1	B;B	0.19331	0.035;0.005	B;B	0.10450	0.005;0.002	T	0.48980	-0.8986	9	0.09843	T	0.71	-1.8166	19.4437	0.94838	0.0:0.0:1.0:0.0	.	30;30	B7Z4K3;Q93045	.;STMN2_HUMAN	H	30;30;30;19	.	ENSP00000220876:R30H	R	+	2	0	STMN2	80711661	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	5.666000	0.68059	2.600000	0.87896	0.561000	0.74099	CGC		0.393	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029		A	80549106	G	A	80549106	3	1	584	1	0	0	0	0	1	0	0	0	15314	1087	38	1	95	1	STMN2	8	80549106	Missense_Mutation	SNP	G	TCGA-CZ-5454-01A-01D-1501-10	16449787	80549106	65814916	12	31983											
RIPK2	8767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	90796294	90796294	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr8:90796294G>T	ENST00000220751.4	+	8	1270	c.956G>T	c.(955-957)aGt>aTt	p.S319I	RIPK2_ENST00000540020.1_Missense_Mutation_p.S182I	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	319					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.S319I(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AGTGTTTCAAGTGCCATTCAC	0.279																																																1	Substitution - Missense(1)	kidney(1)											60	64	63					8																	90796294		2203	4297	6500	SO:0001583	missense	8767			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.956G>T	8.37:g.90796294G>T	ENSP00000220751:p.Ser319Ile		B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	G	7.128	0.579340	0.13686	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;D	0.82255	-1.35;-1.59	5.59	4.49	0.54785	.	0.407803	0.21001	N	0.081878	T	0.70351	0.3214	N	0.24115	0.695	0.09310	N	0.999996	B	0.21147	0.052	B	0.20184	0.028	T	0.60576	-0.7236	10	0.66056	D	0.02	-3.8126	7.2095	0.25925	0.1437:0.0:0.8563:0.0	.	319	O43353	RIPK2_HUMAN	I	319;182	ENSP00000220751:S319I;ENSP00000441623:S182I	ENSP00000220751:S319I	S	+	2	0	RIPK2	90865435	0.137000	0.22531	0.131000	0.22000	0.043000	0.13939	1.583000	0.36579	2.763000	0.94921	0.655000	0.94253	AGT		0.279	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			T	90796294	G	T	90796294	3	4	584	1	0	0	0	0	1	0	0	0	13387	1029	36	4	986	4	RIPK2	8	90796294	Missense_Mutation	SNP	G	TCGA-CZ-5454-01A-01D-1501-10	10247188	90796294	55567728	13	31984											
SEC61B	10952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	101984847	101984847	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr9:101984847G>C	ENST00000223641.4	+	2	86	c.23G>C	c.(22-24)gGc>gCc	p.G8A	ALG2_ENST00000319033.6_5'Flank|ALG2_ENST00000476832.1_5'Flank|SEC61B_ENST00000498603.1_5'UTR|SEC61B_ENST00000481573.1_3'UTR	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit	8					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)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.G8A(1)		kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				ACCCCCAGTGGCACTAACGTG	0.672																																																1	Substitution - Missense(1)	kidney(1)											21	21	21					9																	101984847		2181	4264	6445	SO:0001583	missense	10952			L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354	ENST00000223641.4:c.23G>C	9.37:g.101984847G>C	ENSP00000223641:p.Gly8Ala		P38390|P38391|Q6IBC1	Missense_Mutation	SNP	ENST00000223641.4	37	CCDS6741.1	.	.	.	.	.	.	.	.	.	.	G	9.808	1.182332	0.21870	.	.	ENSG00000106803	ENST00000223641	.	.	.	4.3	3.39	0.38822	.	0.122706	0.53938	N	0.000060	T	0.34890	0.0913	.	.	.	0.40603	D	0.981607	B	0.02656	0.0	B	0.01281	0.0	T	0.20140	-1.0284	8	0.05959	T	0.93	.	13.0847	0.59133	0.0:0.5149:0.4851:0.0	.	8	P60468	SC61B_HUMAN	A	8	.	ENSP00000223641:G8A	G	+	2	0	SEC61B	101024668	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	2.953000	0.49105	0.973000	0.38340	0.561000	0.74099	GGC		0.672	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808		C	101984847	G	C	101984847	3	2	584	1	0	0	0	0	1	0	0	0	14008	1203	42	4	29	4	SEC61B	9	101984847	Missense_Mutation	SNP	G	TCGA-CZ-5454-01A-01D-1501-10		101984847	39228584	14	31985											
LRP4	4038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46895081	46895081	+	Silent	SNP	G	G	A	rs17848229		TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr11:46895081G>A	ENST00000378623.1	-	29	4535	c.4293C>T	c.(4291-4293)gaC>gaT	p.D1431D	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1431					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.D1431D(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTGCCAGCCCGTCAGTGGTCT	0.592																																																1	Substitution - coding silent(1)	kidney(1)						G		0,4402		0,0,2201	86	76	79		4293	-5.5	0.7	11	dbSNP_123	79	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	LRP4	NM_002334.3		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		1431/1906	46895081	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4293C>T	11.37:g.46895081G>A			B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																				0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		A	46895081	G	A	46895081	2	1	584	1	0	0	0	0	0	0	0	1	8961	1136	40	1		1	LRP4	11	46895081	Silent	SNP	G	TCGA-CZ-5454-01A-01D-1501-10		46895081	88111435	15	31986											
LRTOMT	55004	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	71816983	71816983	+	5'Flank	SNP	G	G	A			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr11:71816983G>A	ENST00000278671.5	-	0	0				LRTOMT_ENST00000435085.1_Splice_Site_p.A29T|snoU13_ENST00000459046.1_RNA|LAMTOR1_ENST00000535107.1_5'Flank|LRTOMT_ENST00000419228.1_Intron|LAMTOR1_ENST00000545249.1_5'Flank|LRTOMT_ENST00000307198.7_Splice_Site_p.A29T|LRTOMT_ENST00000439209.1_Intron|LAMTOR1_ENST00000538404.1_5'Flank	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1						cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)		p.A29T(1)		cervix(1)	1						CCACCCCAGGGCCCAGGTAGG	0.527																																																1	Substitution - Missense(1)	kidney(1)											54	54	54					11																	71816983		692	1591	2283	SO:0001631	upstream_gene_variant	220074			AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"p27kip1 releasing factor from RhoA", "protein associated with DRMs and endosomes"	613510	"chromosome 11 open reading frame 59"	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869		11.37:g.71816983G>A	Exception_encountered		Q8WZ09|Q9NWT0	Missense_Mutation	SNP	ENST00000278671.5	37	CCDS8209.1	.	.	.	.	.	.	.	.	.	.	G	0.619	-0.821783	0.02755	.	.	ENSG00000184154	ENST00000435085;ENST00000307198	D;D	0.88818	-2.43;-2.43	4.01	0.911	0.19343	.	.	.	.	.	T	0.70351	0.3214	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56673	-0.7940	9	0.02654	T	1	.	5.2488	0.15512	0.3604:0.0:0.5035:0.1361	.	29	Q8WZ04	TOMT_HUMAN	T	29	ENSP00000409789:A29T;ENSP00000305742:A29T	ENSP00000409789:A29T	A	+	1	0	LRTOMT	71494631	0.014000	0.17966	0.035000	0.18076	0.233000	0.25261	-0.137000	0.10389	-0.137000	0.11455	-1.598000	0.00824	GCC		0.527	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396733.1	NM_017907		A	71816983	G	A	71816983	1	1	584	0	1	0	0	0	0	0	0	0	9048	1217	42	2		2	LRTOMT	11	71816983	5'Flank	SNP	G	TCGA-CZ-5454-01A-01D-1501-10	24921902	71816983	63189533	16	31987											
PAPOLA	10914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	97009231	97009231	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr14:97009231G>A	ENST00000216277.8	+	14	1509		c.e14+1		PAPOLA_ENST00000392990.2_Splice_Site	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.?(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ATCCCGACAAGTAAGCCCTTT	0.353																																					NSCLC(19;254 734 11908 35501 39234)											1	Unknown(1)	kidney(1)											91	98	95					14																	97009231		2203	4300	6503	SO:0001630	splice_region_variant	10914			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1289+1G>A	14.37:g.97009231G>A			Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Splice_Site	SNP	ENST00000216277.8	37	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795706	0.70452	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7668	0.91876	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPOLA	96078984	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.869000	0.99810	2.442000	0.82660	0.591000	0.81541	.		0.353	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		Intron	A	97009231	G	A	97009231	5	1	584	1	0	0	0	0	0	0	1	0	11431	1043	36	2	1344	2	PAPOLA	14	97009231	Splice_Site	SNP	G	TCGA-CZ-5454-01A-01D-1501-10		97009231	10340309	17	31988											
C16orf73	254528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1884331	1884331	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr16:1884331T>A	ENST00000397344.3	-	13	1449	c.1255A>T	c.(1255-1257)Att>Ttt	p.I419F	FAHD1_ENST00000382666.4_Intron|MEIOB_ENST00000470044.1_Missense_Mutation_p.I241F|MEIOB_ENST00000412554.2_Missense_Mutation_p.I448F|MEIOB_ENST00000325962.3_Missense_Mutation_p.I448F|FAHD1_ENST00000382668.4_Intron|MEIOB_ENST00000452149.2_Missense_Mutation_p.I419F	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	419					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)	p.I175F(1)|p.I448F(1)									AGTACACTAATTTTCAATCCA	0.383																																																2	Substitution - Missense(2)	kidney(2)											97	92	94					16																	1884331		2199	4300	6499	SO:0001583	missense	0			BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 73"	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.1255A>T	16.37:g.1884331T>A	ENSP00000380504:p.Ile419Phe		B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	37	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	T	10.61	1.398215	0.25205	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.81	0.11	0.14611	.	0.748493	0.13056	N	0.417292	T	0.13030	0.0316	L	0.50333	1.59	0.09310	N	0.999999	B;P	0.37636	0.036;0.603	B;B	0.42422	0.019;0.387	T	0.19289	-1.0310	10	0.34782	T	0.22	.	10.3861	0.44140	0.0:0.5241:0.0:0.4759	.	448;419	C9J0S1;Q8N635	.;CP073_HUMAN	F	448;419;448;419	ENSP00000390778:I448F;ENSP00000391033:I419F;ENSP00000314484:I448F;ENSP00000380504:I419F	ENSP00000314484:I448F	I	-	1	0	C16orf73	1824332	0.002000	0.14202	0.037000	0.18230	0.414000	0.31173	-0.296000	0.08287	-0.237000	0.09739	0.528000	0.53228	ATT		0.383	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		A	1884331	T	A	1884331	3	1	584	1	0	0	0	0	1	0	0	0	1834	1493	52	5	77	5	C16orf73	16	1884331	Missense_Mutation	SNP	T	TCGA-CZ-5454-01A-01D-1501-10		1884331	88470422	18	31989											
ATAD5	79915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29182285	29182285	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr17:29182285G>T	ENST00000321990.4	+	7	2953	c.2575G>T	c.(2575-2577)Gtg>Ttg	p.V859L	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	859					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.V859L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGCGCTGGATGTGTACAATGC	0.393																																																1	Substitution - Missense(1)	kidney(1)											89	77	81					17																	29182285		2203	4300	6503	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2575G>T	17.37:g.29182285G>T	ENSP00000313171:p.Val859Leu		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	8.462	0.855452	0.17106	.	.	ENSG00000176208	ENST00000321990	D	0.85484	-1.99	5.6	2.48	0.30137	.	0.497469	0.21785	N	0.069157	T	0.79587	0.4471	M	0.63428	1.95	0.23953	N	0.996368	B;B	0.22276	0.008;0.067	B;B	0.12837	0.007;0.008	T	0.65944	-0.6045	10	0.31617	T	0.26	.	7.7549	0.28919	0.1401:0.0:0.7264:0.1335	.	859;859	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	L	859	ENSP00000313171:V859L	ENSP00000313171:V859L	V	+	1	0	ATAD5	26206411	0.991000	0.36638	0.698000	0.30274	0.127000	0.20565	0.847000	0.27696	0.686000	0.31488	0.514000	0.50259	GTG		0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		T	29182285	G	T	29182285	3	4	584	1	0	0	0	0	1	0	0	0	1076	1377	48	4	2601	4	ATAD5	17	29182285	Missense_Mutation	SNP	G	TCGA-CZ-5454-01A-01D-1501-10		29182285	52012925	19	31990											
CDK12	51755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37682372	37682372	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr17:37682372delT	ENST00000447079.4	+	13	3596	c.3563delT	c.(3562-3564)atcfs	p.I1188fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.I1188fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1188					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCCCCAGTGATCCTGCCTTCA	0.527			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													67	64	65					17																	37682372		2203	4300	6503	SO:0001589	frameshift_variant	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3563delT	17.37:g.37682372delT	ENSP00000398880:p.Ile1188fs		A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	CCDS11337.1																																																																																				0.527	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		-	37682372	T	-	37682372	7	5	584	1	0	1	0	1	0	0	0	0	3130	1435	50	0	3613	0	CDK12	17	37682372	Frame_Shift_Del	DEL	T	TCGA-CZ-5454-01A-01D-1501-10	8500087	37682372	43512838	20	31991											
PSMD3	5709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38153787	38153787	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr17:38153787G>C	ENST00000264639.4	+	12	1732	c.1558G>C	c.(1558-1560)Gag>Cag	p.E520Q	PSMD3_ENST00000541736.1_3'UTR	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	520					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 protein catabolic process (GO:0042176)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.E520Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GCAGGACTTGGAGTTTGCCAA	0.607																																					Ovarian(186;531 2051 6385 19668 48409)											1	Substitution - Missense(1)	kidney(1)											88	85	86					17																	38153787		2203	4300	6503	SO:0001583	missense	5709			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"Proteasome (prosome, macropain) subunits"	9560	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 2"	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1558G>C	17.37:g.38153787G>C	ENSP00000264639:p.Glu520Gln		B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490339	0.84962	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000540504	.	.	.	5.14	4.17	0.49024	26S proteasome regulatory subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80319	0.4601	M	0.87180	2.865	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.84247	0.0475	9	0.87932	D	0	-29.8112	13.6043	0.62037	0.0754:0.0:0.9246:0.0	.	520	O43242	PSMD3_HUMAN	Q	520;507;101	.	ENSP00000264639:E520Q	E	+	1	0	PSMD3	35407313	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.548000	0.98103	1.392000	0.46585	0.561000	0.74099	GAG		0.607	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		C	38153787	G	C	38153787	3	2	584	1	0	0	0	0	1	0	0	0	12704	1175	41	4	1604	4	PSMD3	17	38153787	Missense_Mutation	SNP	G	TCGA-CZ-5454-01A-01D-1501-10	471415	38153787	43041423	21	31992											
RNF43	54894	broad.mit.edu;ucsc.edu	37	17	56440700	56440700	+	Missense_Mutation	SNP	A	A	G	rs145164323		TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr17:56440700A>G	ENST00000584437.1	-	4	2473	c.518T>C	c.(517-519)aTg>aCg	p.M173T	RNF43_ENST00000407977.2_Missense_Mutation_p.M173T|RNF43_ENST00000577625.1_Missense_Mutation_p.M46T|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.M46T|RNF43_ENST00000500597.2_Missense_Mutation_p.M132T|RNF43_ENST00000583753.1_Missense_Mutation_p.M132T|RNF43_ENST00000577716.1_Missense_Mutation_p.M173T			Q68DV7	RNF43_HUMAN	ring finger protein 43	173					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M173T(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACAAACTCCATCAGCTTCTC	0.587																																																1	Substitution - Missense(1)	kidney(1)											135	132	133					17																	56440700		2203	4300	6503	SO:0001583	missense	54894				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.518T>C	17.37:g.56440700A>G	ENSP00000463069:p.Met173Thr		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511593	0.85389	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.09630	3.07;2.96	5.68	5.68	0.88126	.	0.096495	0.85682	D	0.000000	T	0.22166	0.0534	L	0.34521	1.04	0.52501	D	0.999955	D;D;D	0.63880	0.991;0.993;0.985	D;D;P	0.66497	0.924;0.944;0.777	T	0.00679	-1.1613	10	0.56958	D	0.05	-2.9233	15.0991	0.72258	1.0:0.0:0.0:0.0	.	132;173;173	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	T	173;132	ENSP00000385328:M173T;ENSP00000441969:M132T	ENSP00000385328:M173T	M	-	2	0	RNF43	53795699	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.454000	0.90352	2.167000	0.68274	0.482000	0.46254	ATG		0.587	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		G	56440700	A	G	56440700	3	3	584	1	0	0	0	0	1	0	0	0	13501	217	8	3	1857	3	RNF43	17	56440700	Missense_Mutation	SNP	A	TCGA-CZ-5454-01A-01D-1501-10	18286913	56440700	24754510	22	31993											
DDX42	11325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61890626	61890626	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr17:61890626A>T	ENST00000578681.1	+	16	2315	c.1714A>T	c.(1714-1716)Aac>Tac	p.N572Y	DDX42_ENST00000583590.1_Missense_Mutation_p.N572Y|DDX42_ENST00000359353.5_Missense_Mutation_p.N453Y|DDX42_ENST00000457800.2_Missense_Mutation_p.N572Y|DDX42_ENST00000389924.2_Missense_Mutation_p.N572Y	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	572	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.N572Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GACTGTCATTAACTATGATGT	0.443																																																1	Substitution - Missense(1)	kidney(1)											90	80	83					17																	61890626		2203	4300	6503	SO:0001583	missense	11325			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1714A>T	17.37:g.61890626A>T	ENSP00000464050:p.Asn572Tyr		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.832914	0.91036	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.05649	3.41;3.41	5.52	5.52	0.82312	Helicase, C-terminal (3);	0.039730	0.85682	D	0.000000	T	0.41396	0.1157	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62923	-0.6751	10	0.87932	D	0	-21.2105	15.1322	0.72533	1.0:0.0:0.0:0.0	.	118;572	B3KV84;Q86XP3	.;DDX42_HUMAN	Y	572;572;308	ENSP00000374574:N572Y;ENSP00000390121:N572Y	ENSP00000352308:N308Y	N	+	1	0	DDX42	59244358	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.230000	0.72887	0.528000	0.53228	AAC		0.443	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		T	61890626	A	T	61890626	3	4	584	1	0	0	0	0	1	0	0	0	4364	362	13	5	1768	5	DDX42	17	61890626	Missense_Mutation	SNP	A	TCGA-CZ-5454-01A-01D-1501-10	5449926	61890626	19304584	23	31994											
NLRP9	338321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56243947	56243947	+	Missense_Mutation	SNP	C	C	A	rs563256174		TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr19:56243947C>A	ENST00000332836.2	-	2	1277	c.1250G>T	c.(1249-1251)aGg>aTg	p.R417M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	417	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R417M(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TAACCCATTCCTCCGGAGATC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18586	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											85	87	86					19																	56243947		2203	4300	6503	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1250G>T	19.37:g.56243947C>A	ENSP00000331857:p.Arg417Met		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824699	0.32237	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.84146	-1.81	2.56	1.52	0.23074	.	.	.	.	.	D	0.90000	0.6878	M	0.80982	2.52	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.78460	-0.2195	9	0.87932	D	0	.	4.6757	0.12710	0.0:0.7013:0.0:0.2987	.	417	Q7RTR0	NALP9_HUMAN	M	417	ENSP00000331857:R417M	ENSP00000331857:R417M	R	-	2	0	NLRP9	60935759	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	0.624000	0.24462	0.678000	0.31325	0.644000	0.83932	AGG		0.498	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		A	56243947	C	A	56243947	3	1	584	1	0	0	0	0	1	0	0	0	10486	681	24	4	1757	4	NLRP9	19	56243947	Missense_Mutation	SNP	C	TCGA-CZ-5454-01A-01D-1501-10		56243947	2885036	24	31995											
GGT7	2686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33437795	33437795	+	Silent	SNP	C	C	T	rs375464567		TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr20:33437795C>T	ENST00000336431.5	-	14	1838	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	598					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.P598P(2)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						ACTGCAGGTCCGGGTGTAGGC	0.607																																																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)						C		0,3860		0,0,1930	31	35	33		1794	-9.4	0.9	20		33	1,8261		0,1,4130	no	coding-synonymous	GGT7	NM_178026.2		0,1,6060	TT,TC,CC		0.0121,0.0,0.0082		598/663	33437795	1,12121	1930	4131	6061	SO:0001819	synonymous_variant	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1794G>A	20.37:g.33437795C>T			Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	CCDS13242.2																																																																																				0.607	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		T	33437795	C	T	33437795	2	4	584	1	0	0	0	0	0	0	0	1	6366	639	23	1		1	GGT7	20	33437795	Silent	SNP	C	TCGA-CZ-5454-01A-01D-1501-10		33437795	29587725	25	31996											
SLC2A4RG	56731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62373331	62373331	+	Silent	SNP	T	T	A			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr20:62373331T>A	ENST00000266077.2	+	4	553	c.501T>A	c.(499-501)tcT>tcA	p.S167S	RP4-583P15.10_ENST00000447343.2_RNA|SLC2A4RG_ENST00000493772.1_Intron	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S167S(1)		NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ACCAGTCCTCTCCGTCCACCC	0.672																																																1	Substitution - coding silent(1)	kidney(1)											29	34	33					20																	62373331		2197	4299	6496	SO:0001819	synonymous_variant	56731			AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"GLUT4 enhancer factor", "Huntington's disease gene regulatory region-binding protein 1"	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.501T>A	20.37:g.62373331T>A			Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Silent	SNP	ENST00000266077.2	37	CCDS13537.1																																																																																				0.672	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		A	62373331	T	A	62373331	2	1	584	1	0	0	0	0	0	0	0	1	14553	1538	54	5		5	SLC2A4RG	20	62373331	Silent	SNP	T	TCGA-CZ-5454-01A-01D-1501-10	28935536	62373331	652189	26	31997											
RPL3	6122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	39713525	39713525	+	Silent	SNP	G	G	A			TCGA-CZ-5454-01A-01D-1501-10	TCGA-CZ-5454-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d9fd1928-7b7d-4147-aeff-1618393ba26c	46d95289-69d8-4437-b2f3-5a3e5ccf7ef6	g.chr22:39713525G>A	ENST00000216146.4	-	3	479	c.306C>T	c.(304-306)ttC>ttT	p.F102F	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.F50F|SNORD43_ENST00000583861.1_RNA|SNORD83A_ENST00000386747.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	102					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F102F(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	AGACAGTCTTGAAGGTCCGGA	0.542																																																1	Substitution - coding silent(1)	kidney(1)											118	117	117					22																	39713525		2203	4300	6503	SO:0001819	synonymous_variant	6122			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.306C>T	22.37:g.39713525G>A			B2RDV9|Q15548|Q5I0G0	Silent	SNP	ENST00000216146.4	37	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	G	9.986	1.229614	0.22542	.	.	ENSG00000100316	ENST00000427905	.	.	.	5.2	0.233	0.15386	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8943	0.18931	0.312:0.1225:0.5655:0.0	.	.	.	.	X	134	.	.	Q	-	1	0	RPL3	38043471	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	1.996000	0.40776	0.120000	0.18254	-0.291000	0.09656	CAA		0.542	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		A	39713525	G	A	39713525	2	1	584	1	0	0	0	0	0	0	0	1	13585	1281	45	2		2	RPL3	22	39713525	Silent	SNP	G	TCGA-CZ-5454-01A-01D-1501-10		39713525	11591041	27	31998											
AIM1L	55057	hgsc.bcm.edu;ucsc.edu	37	1	26650663	26650663	+	Missense_Mutation	SNP	C	C	T	rs189284478		TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr1:26650663C>T	ENST00000308182.5	-	17	2011	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	AIM1L_ENST00000527815.1_Missense_Mutation_p.D699N			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	528	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		AGCAGCCCATCCTCGTAGTAC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17032	0.0		0.001	False		,,,				2504	0.0															0													103	93	96					1																	26650663		2203	4300	6503	SO:0001583	missense	55057					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1582G>A	1.37:g.26650663C>T	ENSP00000310435:p.Asp528Asn		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	27.6	4.848090	0.91277	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.42900	0.96;0.96	5.46	5.46	0.80206	Ricin B-related lectin (1);Ricin B lectin (3);	0.195954	0.52532	D	0.000065	T	0.54647	0.1871	L	0.47716	1.5	0.80722	D	1	D	0.56968	0.978	P	0.56916	0.809	T	0.51631	-0.8681	10	0.46703	T	0.11	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	528	Q8N1P7	AIM1L_HUMAN	N	699;528	ENSP00000433931:D699N;ENSP00000310435:D528N	ENSP00000310435:D528N	D	-	1	0	AIM1L	26523250	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	5.296000	0.65698	2.576000	0.86940	0.650000	0.86243	GAT		0.612	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		T	26650663	C	T	26650663	3	4	585	1	0	0	0	0	1	0	0	0	431	855	30	2	280	2	AIM1L	1	26650663	Missense_Mutation	SNP	C	TCGA-CZ-5455-01A-01D-1501-10		26650663	222599958	1	31999											
MYBPHL	343263	hgsc.bcm.edu;ucsc.edu	37	1	109838957	109838957	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr1:109838957C>G	ENST00000357155.1	-	6	815	c.766G>C	c.(766-768)Gac>Cac	p.D256H	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	256										central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TCAGAGAAGTCTCGTTGGGCA	0.567																																																0													103	105	104					1																	109838957		2203	4300	6503	SO:0001583	missense	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.766G>C	1.37:g.109838957C>G	ENSP00000349678:p.Asp256His		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394434	0.83011	.	.	ENSG00000221986	ENST00000357155	T	0.57273	0.41	5.01	5.01	0.66863	Immunoglobulin-like fold (1);	.	.	.	.	T	0.73737	0.3625	M	0.89715	3.055	0.58432	D	0.999998	D;D	0.89917	1.0;0.991	D;P	0.91635	0.999;0.846	T	0.79422	-0.1810	9	0.87932	D	0	.	15.8558	0.78977	0.0:1.0:0.0:0.0	.	233;256	B7ZME5;A2RUH7	.;MBPHL_HUMAN	H	256	ENSP00000349678:D256H	ENSP00000349678:D256H	D	-	1	0	MYBPHL	109640480	1.000000	0.71417	0.993000	0.49108	0.898000	0.52572	5.149000	0.64863	2.618000	0.88619	0.561000	0.74099	GAC		0.567	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		G	109838957	C	G	109838957	3	3	585	1	0	0	0	0	1	0	0	0	10017	913	32	4	310	4	MYBPHL	1	109838957	Missense_Mutation	SNP	C	TCGA-CZ-5455-01A-01D-1501-10	83188294	109838957	139411664	2	32000											
ADCY10	55811	hgsc.bcm.edu;ucsc.edu	37	1	167829063	167829063	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr1:167829063delA	ENST00000367851.4	-	16	2062	c.1878delT	c.(1876-1878)tttfs	p.F626fs	ADCY10_ENST00000367848.1_Frame_Shift_Del_p.F534fs|ADCY10_ENST00000545172.1_Frame_Shift_Del_p.F473fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	626					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGATCTTCATAAACAATATTT	0.403																																																0													200	209	206					1																	167829063		2203	4300	6503	SO:0001589	frameshift_variant	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1878delT	1.37:g.167829063delA	ENSP00000356825:p.Phe626fs		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Del	DEL	ENST00000367851.4	37	CCDS1265.1																																																																																				0.403	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		-	167829063	A	-	167829063	7	5	585	1	0	1	0	1	0	0	0	0	293	359	13	0	3026	0	ADCY10	1	167829063	Frame_Shift_Del	DEL	A	TCGA-CZ-5455-01A-01D-1501-10	57990106	167829063	81421558	3	32001											
CR2	1380	hgsc.bcm.edu;ucsc.edu	37	1	207651381	207651381	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr1:207651381C>A	ENST00000367058.3	+	15	3066	c.2877C>A	c.(2875-2877)caC>caA	p.H959Q	CR2_ENST00000367057.3_Missense_Mutation_p.H1018Q|CR2_ENST00000458541.2_Missense_Mutation_p.H932Q|CR2_ENST00000367059.3_Missense_Mutation_p.H897Q	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	959	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AATCGGATCACCAATGGAACC	0.522																																																0													99	89	92					1																	207651381		2203	4300	6503	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2877C>A	1.37:g.207651381C>A	ENSP00000356025:p.His959Gln		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	3.491	-0.103817	0.06967	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63744	-0.06;-0.06;0.83;-0.06	5.59	-2.79	0.05841	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.32675	0.0837	N	0.10874	0.06	0.09310	N	1	B;B;B	0.16166	0.016;0.004;0.012	B;B;B	0.21360	0.034;0.019;0.027	T	0.17992	-1.0351	9	0.30854	T	0.27	.	0.3229	0.00306	0.257:0.2549:0.2509:0.2372	.	897;959;1018	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Q	959;1018;897;932	ENSP00000356025:H959Q;ENSP00000356024:H1018Q;ENSP00000356026:H897Q;ENSP00000404222:H932Q	ENSP00000356024:H1018Q	H	+	3	2	CR2	205718004	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.622000	0.00877	0.041000	0.15688	-0.244000	0.11960	CAC		0.522	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		A	207651381	C	A	207651381	3	1	585	1	0	0	0	0	1	0	0	0	3844	506	18	4	3116	4	CR2	1	207651381	Missense_Mutation	SNP	C	TCGA-CZ-5455-01A-01D-1501-10	39822318	207651381	41599240	4	32002											
ERMN	57471	hgsc.bcm.edu;ucsc.edu	37	2	158178112	158178112	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr2:158178112C>T	ENST00000410096.1	-	3	817	c.526G>A	c.(526-528)Gat>Aat	p.D176N	ERMN_ENST00000420719.2_Missense_Mutation_p.D156N|ERMN_ENST00000535935.1_Missense_Mutation_p.D70N|ERMN_ENST00000397283.2_Missense_Mutation_p.D189N	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	176					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TGCTCCTCATCATGTTTAGAA	0.378																																																0													172	161	165					2																	158178112		1935	4138	6073	SO:0001583	missense	57471			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"juxtanodin", "ermin"	610072	"KIAA1189"	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.526G>A	2.37:g.158178112C>T	ENSP00000387047:p.Asp176Asn		B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122465	0.20877	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719	.	.	.	5.83	2.95	0.34219	.	0.787789	0.11873	N	0.521254	T	0.24353	0.0590	L	0.29908	0.895	0.09310	N	1	B;B;B	0.30361	0.096;0.277;0.096	B;B;B	0.28638	0.036;0.092;0.067	T	0.21861	-1.0233	9	0.66056	D	0.02	-33.6265	5.1063	0.14785	0.1527:0.6208:0.1474:0.0791	.	156;189;176	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	N	176;189;70;156	.	ENSP00000380453:D189N	D	-	1	0	ERMN	157886358	0.000000	0.05858	0.002000	0.10522	0.344000	0.29017	0.151000	0.16283	0.745000	0.32763	0.655000	0.94253	GAT		0.378	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		T	158178112	C	T	158178112	3	4	585	1	0	0	0	0	1	0	0	0	5237	826	29	2	332	2	ERMN	2	158178112	Missense_Mutation	SNP	C	TCGA-CZ-5455-01A-01D-1501-10		158178112	85021261	5	32003											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52637555	52637555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr3:52637555G>A	ENST00000296302.7	-	17	2762	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R936*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R889*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R936*			Q86U86	PB1_HUMAN	polybromo 1	921					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R921*(2)|p.R889*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTCTTCTCGTTTTAGTTTA	0.343			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											75	73	74					3																	52637555		2202	4300	6502	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2761C>T	3.37:g.52637555G>A	ENSP00000296302:p.Arg921*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	40	7.972597	0.98588	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.57	1.62	0.23740	.	0.056697	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6643	0.85248	0.0:0.0:0.3779:0.6221	.	.	.	.	X	889;921;921;921;921;921;936;936;921;880	.	ENSP00000296302:R921X	R	-	1	2	PBRM1	52612595	0.999000	0.42202	0.982000	0.44146	0.992000	0.81027	0.618000	0.24373	0.065000	0.16485	-0.158000	0.13435	CGA		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52637555	G	A	52637555	4	1	585	1	0	0	0	0	0	1	0	0	11493	1153	40	1	2195	1	PBRM1	3	52637555	Nonsense_Mutation	SNP	G	TCGA-CZ-5455-01A-01D-1501-10		52637555	145384875	6	32004											
TBCK	93627	hgsc.bcm.edu	37	4	107168369	107168370	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr4:107168369_107168370insG	ENST00000273980.5	-	11	1304_1305	c.857_858insC	c.(856-858)cctfs	p.P286fs	TBCK_ENST00000361687.4_Frame_Shift_Ins_p.P223fs|TBCK_ENST00000394708.2_Frame_Shift_Ins_p.P286fs|TBCK_ENST00000394706.3_Frame_Shift_Ins_p.P247fs|TBCK_ENST00000432496.2_Frame_Shift_Ins_p.P286fs					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ACAGACTGGCAGGTTTGGTAAA	0.376																																																0																																										SO:0001589	frameshift_variant	93627				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.858dupC	4.37:g.107168371_107168371dupG	ENSP00000273980:p.Pro286fs			Frame_Shift_Ins	INS	ENST00000273980.5	37	CCDS54788.1																																																																																				0.376	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		G	107168370	-	G	107168369	7	5	585	1	0	1	1	0	0	0	0	0	15641	175	7	0	1891	0	TBCK	4	107168369	Frame_Shift_Ins	INS	-	TCGA-CZ-5455-01A-01D-1501-10		107168369	83985907	7	32005											
ODZ3	55714	hgsc.bcm.edu;ucsc.edu	37	4	183714250	183714250	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr4:183714250A>T	ENST00000511685.1	+	26	6548	c.6425A>T	c.(6424-6426)tAc>tTc	p.Y2142F	TENM3_ENST00000406950.2_Missense_Mutation_p.Y2142F			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2142					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAAACAGTTTACCTCAATGAA	0.438																																																0													112	108	109					4																	183714250		1952	4155	6107	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6425A>T	4.37:g.183714250A>T	ENSP00000424226:p.Tyr2142Phe		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	9.703	1.155129	0.21371	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.85955	-2.05;-2.05	4.75	4.75	0.60458	.	.	.	.	.	T	0.79458	0.4449	L	0.36672	1.1	0.52501	D	0.999955	D	0.53885	0.963	B	0.41088	0.347	T	0.82538	-0.0407	9	0.62326	D	0.03	.	14.4319	0.67257	1.0:0.0:0.0:0.0	.	2142	Q9P273	TEN3_HUMAN	F	2142	ENSP00000424226:Y2142F;ENSP00000385276:Y2142F	ENSP00000385276:Y2142F	Y	+	2	0	ODZ3	183951244	1.000000	0.71417	0.318000	0.25279	0.983000	0.72400	3.884000	0.56175	1.992000	0.58205	0.374000	0.22700	TAC		0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			T	183714250	A	T	183714250	3	4	585	1	0	0	0	0	1	0	0	0	10838	391	14	5	6523	5	ODZ3	4	183714250	Missense_Mutation	SNP	A	TCGA-CZ-5455-01A-01D-1501-10	76545881	183714250	7440026	8	32006											
SLC22A4	6583	hgsc.bcm.edu;ucsc.edu	37	5	131662990	131662990	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr5:131662990G>C	ENST00000200652.3	+	5	1019	c.845G>C	c.(844-846)cGa>cCa	p.R282P	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	282					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.R282L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	GAATCTCCCCGATGGCTGATA	0.353																																																1	Substitution - Missense(1)	kidney(1)											45	43	43					5																	131662990		2203	4300	6503	SO:0001583	missense	6583			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.845G>C	5.37:g.131662990G>C	ENSP00000200652:p.Arg282Pro		O14546	Missense_Mutation	SNP	ENST00000200652.3	37	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479602	0.84747	.	.	ENSG00000197208	ENST00000200652	T	0.79845	-1.31	5.85	4.98	0.66077	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	H	0.96805	3.885	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.95145	0.8267	10	0.87932	D	0	.	15.1544	0.72730	0.0678:0.0:0.9322:0.0	.	282	Q9H015	S22A4_HUMAN	P	282	ENSP00000200652:R282P	ENSP00000200652:R282P	R	+	2	0	SLC22A4	131690889	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.199000	0.95003	1.477000	0.48234	0.655000	0.94253	CGA		0.353	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		C	131662990	G	C	131662990	3	2	585	1	0	0	0	0	1	0	0	0	14462	1058	37	4	863	4	SLC22A4	5	131662990	Missense_Mutation	SNP	G	TCGA-CZ-5455-01A-01D-1501-10		131662990	49252270	9	32007											
PCDHGB2	56103	hgsc.bcm.edu;ucsc.edu	37	5	140741742	140741742	+	Silent	SNP	G	G	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr5:140741742G>A	ENST00000522605.1	+	1	2040	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	680					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCCGGGAGCCCTCTGACC	0.597																																																0													63	68	66					5																	140741742		2031	4179	6210	SO:0001819	synonymous_variant	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2040G>A	5.37:g.140741742G>A			Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	CCDS54924.1																																																																																				0.597	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		A	140741742	G	A	140741742	2	1	585	1	0	0	0	0	0	0	0	1	11565	962	34	2		2	PCDHGB2	5	140741742	Silent	SNP	G	TCGA-CZ-5455-01A-01D-1501-10	9078752	140741742	40173518	10	32008											
MYLK4	340156	hgsc.bcm.edu;ucsc.edu	37	6	2689126	2689126	+	Silent	SNP	G	G	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr6:2689126G>T	ENST00000274643.7	-	4	642	c.300C>A	c.(298-300)gtC>gtA	p.V100V	MYLK4_ENST00000268446.5_Silent_p.V100V	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	100						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGAAGCTGTTGACCGCTCCTT	0.463																																																0													217	225	222					6																	2689126		2203	4300	6503	SO:0001819	synonymous_variant	340156				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.300C>A	6.37:g.2689126G>T			A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	CCDS34330.1																																																																																				0.463	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		T	2689126	G	T	2689126	2	4	585	1	0	0	0	0	0	0	0	1	10061	1277	45	4		4	MYLK4	6	2689126	Silent	SNP	G	TCGA-CZ-5455-01A-01D-1501-10		2689126	168425941	11	32009											
XPO5	57510	hgsc.bcm.edu;ucsc.edu	37	6	43492326	43492326	+	Silent	SNP	T	T	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr6:43492326T>C	ENST00000265351.7	-	31	3570	c.3360A>G	c.(3358-3360)gaA>gaG	p.E1120E	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1120					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CCTTCTGTATTTCAGGGATTT	0.488																																																0													150	152	151					6																	43492326		1919	4123	6042	SO:0001819	synonymous_variant	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3360A>G	6.37:g.43492326T>C			Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	9.758	1.169344	0.21621	.	.	ENSG00000124571	ENST00000455285	.	.	.	6.06	1.06	0.20224	.	.	.	.	.	T	0.38348	0.1037	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	-9.1451	6.7374	0.23417	0.0:0.1989:0.3609:0.4402	.	.	.	.	R	235	.	.	K	-	2	0	XPO5	43600304	0.983000	0.35010	0.998000	0.56505	0.998000	0.95712	0.014000	0.13333	-0.033000	0.13736	0.533000	0.62120	AAA		0.488	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		C	43492326	T	C	43492326	2	2	585	1	0	0	0	0	0	0	0	1	17452	1838	64	3		3	XPO5	6	43492326	Silent	SNP	T	TCGA-CZ-5455-01A-01D-1501-10	40803200	43492326	127622741	12	32010											
PDCD2	5134	hgsc.bcm.edu;ucsc.edu	37	6	170892196	170892196	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr6:170892196T>C	ENST00000541970.1	-	3	685	c.607A>G	c.(607-609)Atg>Gtg	p.M203V	PDCD2_ENST00000453163.2_Missense_Mutation_p.M203V|PDCD2_ENST00000392090.2_Missense_Mutation_p.M170V|PDCD2_ENST00000443345.2_Missense_Mutation_p.M170V|PDCD2_ENST00000537445.1_Missense_Mutation_p.M170V|PDCD2_ENST00000542896.1_Missense_Mutation_p.M203V	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	203					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		ACCTCAGGCATAATCTCATCT	0.363																																					Colon(60;1476 1726 39478)											0													131	129	129					6																	170892196		2203	4300	6503	SO:0001583	missense	5134			AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"Zinc fingers, MYND-type"	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.607A>G	6.37:g.170892196T>C	ENSP00000439467:p.Met203Val		E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Missense_Mutation	SNP	ENST00000541970.1	37	CCDS5316.1	.	.	.	.	.	.	.	.	.	.	.	3.917	-0.018834	0.07681	.	.	ENSG00000071994	ENST00000541970;ENST00000392090;ENST00000542896;ENST00000538195;ENST00000453163;ENST00000537445;ENST00000443345	.	.	.	4.65	-6.86	0.01676	Programmed cell death protein 2, C-terminal (1);	2.708770	0.00718	N	0.000865	T	0.08133	0.0203	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.0;0.001;0.0	T	0.09015	-1.0694	8	.	.	.	-14.5689	1.6598	0.02789	0.3646:0.3085:0.1971:0.1298	.	152;170;203;170;203;203;170	Q7Z6S7;F5GYS7;E9PCU7;Q58HM9;F5H4V9;Q16342;Q58HN0	.;.;.;.;.;PDCD2_HUMAN;.	V	203;170;203;1;203;170;170	.	.	M	-	1	0	PDCD2	170734121	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-1.278000	0.02408	-0.444000	0.05651	ATG		0.363	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043269.2	NM_002598		C	170892196	T	C	170892196	3	2	585	1	0	0	0	0	1	0	0	0	11621	1406	49	3	472	3	PDCD2	6	170892196	Missense_Mutation	SNP	T	TCGA-CZ-5455-01A-01D-1501-10	127399870	170892196	222871	13	32011											
PION	54103	hgsc.bcm.edu;ucsc.edu	37	7	76959608	76959608	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr7:76959608T>G	ENST00000257626.7	-	20	1700	c.1622A>C	c.(1621-1623)cAc>cCc	p.H541P	GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	541					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GTTGTTATAGTGGAAGTGTGG	0.478																																																0													264	211	229					7																	76959608		2203	4300	6503	SO:0001583	missense	54103				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1622A>C	7.37:g.76959608T>G	ENSP00000257626:p.His541Pro		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	T	8.942	0.966136	0.18659	.	.	ENSG00000186088	ENST00000257626;ENST00000415112	T;T	0.33216	2.18;1.42	4.5	-2.6	0.06190	.	0.385300	0.19940	U	0.102670	T	0.23688	0.0573	L	0.54323	1.7	0.09310	N	1	P;B	0.49447	0.924;0.029	P;B	0.44990	0.466;0.015	T	0.12656	-1.0539	10	0.46703	T	0.11	.	2.9711	0.05923	0.3414:0.3304:0.0:0.3282	.	541;541	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	P	541;26	ENSP00000257626:H541P;ENSP00000396230:H26P	ENSP00000257626:H541P	H	-	2	0	PION	76797544	0.045000	0.20229	0.016000	0.15963	0.712000	0.41017	-0.183000	0.09712	-0.204000	0.10235	0.533000	0.62120	CAC		0.478	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		G	76959608	T	G	76959608	3	3	585	1	0	0	0	0	1	0	0	0	11936	1696	59	5	990	5	PION	7	76959608	Missense_Mutation	SNP	T	TCGA-CZ-5455-01A-01D-1501-10		76959608	82179055	14	32012											
PON3	5446	hgsc.bcm.edu;ucsc.edu	37	7	94991745	94991745	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr7:94991745T>C	ENST00000265627.5	-	8	845	c.835A>G	c.(835-837)Att>Gtt	p.I279V	PON3_ENST00000427422.1_Intron|PON3_ENST00000451904.1_Silent_p.T261T|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	279					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CCTGCCAAAATGTCTCCTGTG	0.458																																																0													84	79	81					7																	94991745		2203	4300	6503	SO:0001583	missense	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.835A>G	7.37:g.94991745T>C	ENSP00000265627:p.Ile279Val		A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.552001	0.27739	.	.	ENSG00000105852	ENST00000265627	T	0.42900	0.96	4.98	0.0629	0.14346	Six-bladed beta-propeller, TolB-like (1);	0.186202	0.48286	N	0.000200	T	0.37461	0.1004	M	0.65498	2.005	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.24835	-1.0149	10	0.40728	T	0.16	-10.8681	10.6461	0.45621	0.0:0.2265:0.0:0.7735	.	279	Q15166	PON3_HUMAN	V	279	ENSP00000265627:I279V	ENSP00000265627:I279V	I	-	1	0	PON3	94829681	0.846000	0.29590	0.920000	0.36463	0.855000	0.48748	0.515000	0.22801	0.082000	0.17018	0.528000	0.53228	ATT		0.458	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		C	94991745	T	C	94991745	3	2	585	1	0	0	0	0	1	0	0	0	12252	1464	51	3	237	3	PON3	7	94991745	Missense_Mutation	SNP	T	TCGA-CZ-5455-01A-01D-1501-10	18032137	94991745	64146918	15	32013											
CHCHD3	54927	hgsc.bcm.edu	37	7	132470404	132470404	+	Silent	SNP	T	T	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr7:132470404T>A	ENST00000262570.5	-	8	822	c.678A>T	c.(676-678)ggA>ggT	p.G226G	CHCHD3_ENST00000448878.1_Silent_p.G231G|CHCHD3_ENST00000476546.1_5'UTR	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	226					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GTTTTTATCCTCCCTTCTCAA	0.363																																																0													98	93	95					7																	132470404		2203	4300	6503	SO:0001819	synonymous_variant	54927			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21906	protein-coding gene	gene with protein product	"mitochondrial inner membrane organizing system 3", "protein phosphatase 1, regulatory subunit 22"	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.678A>T	7.37:g.132470404T>A				Silent	SNP	ENST00000262570.5	37	CCDS5828.1																																																																																				0.363	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812		A	132470404	T	A	132470404	2	1	585	1	0	0	0	0	0	0	0	1	3319	1538	54	5		5	CHCHD3	7	132470404	Silent	SNP	T	TCGA-CZ-5455-01A-01D-1501-10	37478659	132470404	26668259	16	32014											
PEBP4	157310	hgsc.bcm.edu;ucsc.edu	37	8	22777758	22777758	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr8:22777758T>C	ENST00000256404.6	-	3	288	c.197A>G	c.(196-198)aAc>aGc	p.N66S	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	66						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		CTGTCTGTAGTTGTTACAATC	0.547																																																0													79	84	83					8																	22777758		1934	4127	6061	SO:0001583	missense	157310			BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"cousin-of-RKIP 1 protein"	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.197A>G	8.37:g.22777758T>C	ENSP00000256404:p.Asn66Ser		Q5EVA1|Q8WW74	Missense_Mutation	SNP	ENST00000256404.6	37	CCDS43724.1	.	.	.	.	.	.	.	.	.	.	T	3.997	-0.003402	0.07773	.	.	ENSG00000134020	ENST00000256404	T	0.41065	1.01	5.75	2.02	0.26589	.	0.465346	0.21200	N	0.078484	T	0.27489	0.0675	L	0.40543	1.245	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.17440	-1.0369	10	0.25106	T	0.35	-11.5465	4.1359	0.10170	0.1495:0.1639:0.0:0.6866	.	66	Q96S96	PEBP4_HUMAN	S	66	ENSP00000256404:N66S	ENSP00000256404:N66S	N	-	2	0	PEBP4	22833703	0.724000	0.28038	0.002000	0.10522	0.027000	0.11550	1.083000	0.30815	0.100000	0.17581	-0.256000	0.11100	AAC		0.547	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		C	22777758	T	C	22777758	3	2	585	1	0	0	0	0	1	0	0	0	11716	1725	60	3	506	3	PEBP4	8	22777758	Missense_Mutation	SNP	T	TCGA-CZ-5455-01A-01D-1501-10		22777758	123586264	17	32015											
HOOK3	84376	hgsc.bcm.edu;ucsc.edu	37	8	42841800	42841800	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr8:42841800A>G	ENST00000307602.4	+	15	1594	c.1394A>G	c.(1393-1395)gAg>gGg	p.E465G		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	465					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TCATTCAGGGAGAAACTTATT	0.328			T	RET	papillary thyroid																																		Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													65	67	66					8																	42841800		2203	4300	6503	SO:0001583	missense	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1394A>G	8.37:g.42841800A>G	ENSP00000305699:p.Glu465Gly		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600123	0.87055	.	.	ENSG00000168172	ENST00000307602	T	0.26957	1.7	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	M	0.81341	2.54	0.80722	D	1	P	0.42584	0.784	P	0.54174	0.744	T	0.51301	-0.8723	10	0.56958	D	0.05	-19.1994	15.3927	0.74758	1.0:0.0:0.0:0.0	.	465	Q86VS8	HOOK3_HUMAN	G	465	ENSP00000305699:E465G	ENSP00000305699:E465G	E	+	2	0	HOOK3	42960957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.850000	0.92190	2.048000	0.60808	0.529000	0.55759	GAG		0.328	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		G	42841800	A	G	42841800	3	3	585	1	0	0	0	0	1	0	0	0	7286	304	11	3	1452	3	HOOK3	8	42841800	Missense_Mutation	SNP	A	TCGA-CZ-5455-01A-01D-1501-10	20064042	42841800	103522222	18	32016											
UBE2D1	7321	hgsc.bcm.edu;ucsc.edu	37	10	60128517	60128517	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr10:60128517G>C	ENST00000373910.4	+	7	663	c.436G>C	c.(436-438)Gca>Cca	p.A146P		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TCAGAAATATGCAATGTAAAA	0.289																																																0													72	73	72					10																	60128517		2202	4293	6495	SO:0001583	missense	7321			BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"Ubiquitin-conjugating enzymes E2"	12474	protein-coding gene	gene with protein product		602961	"stimulator of Fe transport", "ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.436G>C	10.37:g.60128517G>C	ENSP00000363019:p.Ala146Pro		A6NLF6|A8K786	Missense_Mutation	SNP	ENST00000373910.4	37	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093447	0.76756	.	.	ENSG00000072401	ENST00000373910	T	0.75367	-0.93	5.72	5.72	0.89469	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.92496	0.7617	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95304	0.8406	10	0.87932	D	0	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	146	P51668	UB2D1_HUMAN	P	146	ENSP00000363019:A146P	ENSP00000363019:A146P	A	+	1	0	UBE2D1	59798523	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.807000	0.99171	2.695000	0.91970	0.650000	0.86243	GCA		0.289	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	NM_003338		C	60128517	G	C	60128517	3	2	585	1	0	0	0	0	1	0	0	0	16853	1319	46	4	462	4	UBE2D1	10	60128517	Missense_Mutation	SNP	G	TCGA-CZ-5455-01A-01D-1501-10		60128517	75406230	19	32017											
ANK3	288	hgsc.bcm.edu;ucsc.edu	37	10	61835851	61835851	+	Silent	SNP	A	A	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr10:61835851A>T	ENST00000280772.2	-	37	4979	c.4788T>A	c.(4786-4788)tcT>tcA	p.S1596S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1596	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCAGGGTACCAGAGGAAACTT	0.483																																																0													153	144	147					10																	61835851		2203	4300	6503	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4788T>A	10.37:g.61835851A>T			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		T	61835851	A	T	61835851	2	4	585	1	0	0	0	0	0	0	0	1	622	175	7	5		5	ANK3	10	61835851	Silent	SNP	A	TCGA-CZ-5455-01A-01D-1501-10	1707334	61835851	73698896	20	32018											
OR5A2	219981	hgsc.bcm.edu;ucsc.edu	37	11	59190140	59190140	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr11:59190140A>G	ENST00000302040.4	-	1	309	c.287T>C	c.(286-288)gTt>gCt	p.V96A		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GGCACAGCCAACAAAGGAAAT	0.507																																																0													91	87	88					11																	59190140		2201	4295	6496	SO:0001583	missense	219981			AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"GPCR / Class A : Olfactory receptors"	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.287T>C	11.37:g.59190140A>G	ENSP00000303834:p.Val96Ala		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.688194	0.29962	.	.	ENSG00000172324	ENST00000302040	T	0.00388	7.59	5.47	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.943557	0.08476	U	0.940332	T	0.00144	0.0004	N	0.02225	-0.63	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.09400	-1.0676	10	0.16420	T	0.52	.	7.0088	0.24851	0.7411:0.0:0.2589:0.0	.	96	Q8NGI9	OR5A2_HUMAN	A	96	ENSP00000303834:V96A	ENSP00000303834:V96A	V	-	2	0	OR5A2	58946716	0.000000	0.05858	0.000000	0.03702	0.779000	0.44077	-0.225000	0.09151	0.471000	0.27319	0.477000	0.44152	GTT		0.507	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		G	59190140	A	G	59190140	3	3	585	1	0	0	0	0	1	0	0	0	11142	43	2	3	689	3	OR5A2	11	59190140	Missense_Mutation	SNP	A	TCGA-CZ-5455-01A-01D-1501-10		59190140	75816376	21	32019											
CORO1B	57175	hgsc.bcm.edu;ucsc.edu	37	11	67207622	67207622	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr11:67207622C>T	ENST00000341356.5	-	8	1084	c.974G>A	c.(973-975)cGg>cAg	p.R325Q	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000393893.1_Missense_Mutation_p.R325Q|CORO1B_ENST00000539724.1_5'UTR	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	325					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTCCAGGCCCCGCTTGGGCAT	0.607																																																0													65	67	66					11																	67207622		2200	4295	6495	SO:0001583	missense	57175			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.974G>A	11.37:g.67207622C>T	ENSP00000340211:p.Arg325Gln		B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159691	0.94727	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.32753	1.44;1.44	3.86	2.95	0.34219	Domain of unknown function DUF1900 (1);	0.000000	0.47455	D	0.000224	T	0.58864	0.2152	M	0.89095	3.005	0.50039	D	0.99984	D	0.89917	1.0	D	0.81914	0.995	T	0.67654	-0.5615	10	0.87932	D	0	-23.5612	12.2208	0.54433	0.0:0.9124:0.0:0.0876	.	325	Q9BR76	COR1B_HUMAN	Q	325	ENSP00000377471:R325Q;ENSP00000340211:R325Q	ENSP00000340211:R325Q	R	-	2	0	CORO1B	66964198	0.999000	0.42202	0.881000	0.34555	0.923000	0.55619	7.564000	0.82326	1.189000	0.43028	0.591000	0.81541	CGG		0.607	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		T	67207622	C	T	67207622	3	4	585	1	0	0	0	0	1	0	0	0	3756	652	23	1	511	1	CORO1B	11	67207622	Missense_Mutation	SNP	C	TCGA-CZ-5455-01A-01D-1501-10	8017482	67207622	67798894	22	32020											
MAML2	84441	hgsc.bcm.edu	37	11	95825401	95825401	+	Silent	SNP	C	C	T	rs564983573	byFrequency	TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr11:95825401C>T	ENST00000524717.1	-	2	3078	c.1794G>A	c.(1792-1794)caG>caA	p.Q598Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	598					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q598Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgctgct	0.532			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								C|||	13	0.00259585	0.0008	0.0	5008	,	,		15311	0.0		0.004	False		,,,				2504	0.0082						Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)											23	30	28					11																	95825401		2070	4064	6134	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1794G>A	11.37:g.95825401C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			T	95825401	C	T	95825401	2	4	585	1	0	0	0	0	0	0	0	1	9208	796	28	2		2	MAML2	11	95825401	Silent	SNP	C	TCGA-CZ-5455-01A-01D-1501-10	28617779	95825401	39181115	23	32021											
VSIG10	54621	hgsc.bcm.edu;ucsc.edu	37	12	118506261	118506261	+	Silent	SNP	C	C	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr12:118506261C>T	ENST00000359236.5	-	8	1764	c.1488G>A	c.(1486-1488)aaG>aaA	p.K496K		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	496						integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGTGGTCCTGCTTAGGTATTT	0.493																																																0													220	222	221					12																	118506261		2069	4205	6274	SO:0001819	synonymous_variant	54621				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1488G>A	12.37:g.118506261C>T			Q9NWQ7	Silent	SNP	ENST00000359236.5	37	CCDS44992.1																																																																																				0.493	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		T	118506261	C	T	118506261	2	4	585	1	0	0	0	0	0	0	0	1	17228	796	28	2		2	VSIG10	12	118506261	Silent	SNP	C	TCGA-CZ-5455-01A-01D-1501-10		118506261	15345634	24	32022											
SYNE2	23224	hgsc.bcm.edu;ucsc.edu	37	14	64556348	64556348	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr14:64556348C>G	ENST00000344113.4	+	59	11939	c.11727C>G	c.(11725-11727)atC>atG	p.I3909M	SYNE2_ENST00000358025.3_Missense_Mutation_p.I3909M|SYNE2_ENST00000554584.1_Missense_Mutation_p.I3942M|SYNE2_ENST00000555002.1_Missense_Mutation_p.I543M|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.I294M|SYNE2_ENST00000394768.2_Missense_Mutation_p.I294M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3909					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTCAAAAATCAAAACTATCC	0.274																																																0													32	34	33					14																	64556348		2190	4257	6447	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11727C>G	14.37:g.64556348C>G	ENSP00000341781:p.Ile3909Met		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631041	0.28978	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.62498	0.39;3.55;0.39;0.02;3.75;3.55	5.36	2.52	0.30459	.	0.111692	0.39834	N	0.001252	T	0.58892	0.2154	L	0.59436	1.845	0.80722	D	1	P;P;B;P	0.50943	0.94;0.901;0.138;0.936	P;B;B;P	0.50405	0.546;0.344;0.053;0.64	T	0.56920	-0.7899	10	0.46703	T	0.11	.	2.5002	0.04631	0.1306:0.5188:0.1271:0.2235	.	294;3943;3909;3909	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	M	3909;294;3909;3942;3942;543;294	ENSP00000350719:I3909M;ENSP00000349969:I294M;ENSP00000341781:I3909M;ENSP00000452570:I3942M;ENSP00000450831:I543M;ENSP00000378249:I294M	ENSP00000261678:I3942M	I	+	3	3	SYNE2	63626101	0.999000	0.42202	1.000000	0.80357	0.906000	0.53458	0.415000	0.21181	0.638000	0.30545	-0.378000	0.06908	ATC		0.274	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		G	64556348	C	G	64556348	3	3	585	1	0	0	0	0	1	0	0	0	15451	816	29	4	11957	4	SYNE2	14	64556348	Missense_Mutation	SNP	C	TCGA-CZ-5455-01A-01D-1501-10		64556348	42793192	25	32023											
FBN1	2200	hgsc.bcm.edu;ucsc.edu	37	15	48725074	48725074	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr15:48725074C>T	ENST00000316623.5	-	55	7183	c.6728G>A	c.(6727-6729)aGg>aAg	p.R2243K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2243	EGF-like 38; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTGCACATCCTACGGTCTTC	0.493																																																0													174	145	155					15																	48725074		2198	4296	6494	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6728G>A	15.37:g.48725074C>T	ENSP00000325527:p.Arg2243Lys		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721746	0.48728	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.91295	-2.82	6.06	6.06	0.98353	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	N	0.26162	0.8	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	D	0.88145	0.2847	10	0.16420	T	0.52	.	20.2159	0.98296	0.0:1.0:0.0:0.0	.	2243	P35555	FBN1_HUMAN	K	2243;811;1133	ENSP00000325527:R2243K	ENSP00000325527:R2243K	R	-	2	0	FBN1	46512366	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.958000	0.63660	2.882000	0.98803	0.655000	0.94253	AGG		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			T	48725074	C	T	48725074	3	4	585	1	0	0	0	0	1	0	0	0	5704	681	24	2	1935	2	FBN1	15	48725074	Missense_Mutation	SNP	C	TCGA-CZ-5455-01A-01D-1501-10		48725074	53806318	26	32024											
PTRF	284119	hgsc.bcm.edu;ucsc.edu	37	17	40556892	40556892	+	Missense_Mutation	SNP	C	C	A	rs534775609		TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr17:40556892C>A	ENST00000357037.5	-	2	1405	c.986G>T	c.(985-987)cGc>cTc	p.R329L		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTGGCCCTCGCGGATCTTCTT	0.677																																																0													77	68	71					17																	40556892		2203	4300	6503	SO:0001583	missense	284119			AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.986G>T	17.37:g.40556892C>A	ENSP00000349541:p.Arg329Leu			Missense_Mutation	SNP	ENST00000357037.5	37	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264564	0.95399	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.68903	-0.36	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82663	-0.0346	10	0.62326	D	0.03	-15.8152	17.8979	0.88895	0.0:1.0:0.0:0.0	.	311;329	B4DNU9;Q6NZI2	.;PTRF_HUMAN	L	329;284	ENSP00000349541:R329L	ENSP00000349541:R329L	R	-	2	0	PTRF	37810418	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.604000	0.82830	2.445000	0.82738	0.557000	0.71058	CGC		0.677	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		A	40556892	C	A	40556892	3	1	585	1	0	0	0	0	1	0	0	0	12821	768	27	4	190	4	PTRF	17	40556892	Missense_Mutation	SNP	C	TCGA-CZ-5455-01A-01D-1501-10		40556892	40638318	27	32025											
TRIM37	4591	hgsc.bcm.edu;ucsc.edu	37	17	57078981	57078981	+	Silent	SNP	G	G	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr17:57078981G>A	ENST00000262294.7	-	23	3049	c.2790C>T	c.(2788-2790)gtC>gtT	p.V930V	TRIM37_ENST00000376149.3_Intron|TRIM37_ENST00000393065.2_Silent_p.V896V|TRIM37_ENST00000393066.3_Silent_p.V930V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	930					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCTGTGTCATGACCATGAAGG	0.502									Mulibrey Nanism																																							0													163	134	143					17																	57078981		2203	4300	6503	SO:0001819	synonymous_variant	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2790C>T	17.37:g.57078981G>A			Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	CCDS32694.1																																																																																				0.502	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		A	57078981	G	A	57078981	2	1	585	1	0	0	0	0	0	0	0	1	16516	1277	45	2		2	TRIM37	17	57078981	Silent	SNP	G	TCGA-CZ-5455-01A-01D-1501-10	16522089	57078981	24116229	28	32026											
ITGB4	3691	hgsc.bcm.edu;ucsc.edu	37	17	73752790	73752790	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr17:73752790G>A	ENST00000200181.3	+	37	5090	c.4903G>A	c.(4903-4905)Gcc>Acc	p.A1635T	ITGB4_ENST00000339591.3_Missense_Mutation_p.A1618T|ITGB4_ENST00000450894.3_Missense_Mutation_p.A1565T|ITGB4_ENST00000449880.2_Missense_Mutation_p.A1618T|ITGB4_ENST00000579662.1_Missense_Mutation_p.A1565T|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1635					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAGGCTCCGCCTTCACTTT	0.677																																																0													53	53	53					17																	73752790		2203	4299	6502	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4903G>A	17.37:g.73752790G>A	ENSP00000200181:p.Ala1635Thr		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289923	0.23478	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.52754	0.65;0.65;0.65	5.04	-6.52	0.01872	Fibronectin, type III (1);	0.596637	0.17474	N	0.172983	T	0.17916	0.0430	N	0.08118	0	0.52501	D	0.999953	B;B;B	0.12630	0.001;0.006;0.003	B;B;B	0.08055	0.003;0.003;0.003	T	0.01341	-1.1380	10	0.40728	T	0.16	.	4.503	0.11874	0.4749:0.3022:0.1406:0.0822	.	1618;1565;1635	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	T	1635;1618;1618	ENSP00000200181:A1635T;ENSP00000344079:A1618T;ENSP00000400217:A1618T	ENSP00000200181:A1635T	A	+	1	0	ITGB4	71264385	0.000000	0.05858	0.037000	0.18230	0.471000	0.32888	-0.167000	0.09940	-0.754000	0.04715	-0.379000	0.06801	GCC		0.677	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			A	73752790	G	A	73752790	3	1	585	1	0	0	0	0	1	0	0	0	7899	1087	38	1	5208	1	ITGB4	17	73752790	Missense_Mutation	SNP	G	TCGA-CZ-5455-01A-01D-1501-10	16673809	73752790	7442420	29	32027											
LIPG	9388	hgsc.bcm.edu;ucsc.edu	37	18	47095827	47095827	+	Silent	SNP	C	C	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr18:47095827C>T	ENST00000261292.4	+	4	758	c.480C>T	c.(478-480)ctC>ctT	p.L160L	LIPG_ENST00000577628.1_Silent_p.L196L|LIPG_ENST00000427224.2_Silent_p.L160L|LIPG_ENST00000580036.1_Silent_p.L160L	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	160					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ATTTTTCTCTCGGGAATGTCC	0.542																																					Pancreas(126;280 1778 12814 26243 34948)											0													63	59	60					18																	47095827		2203	4300	6503	SO:0001819	synonymous_variant	9388			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.480C>T	18.37:g.47095827C>T			B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	37	CCDS11938.1																																																																																				0.542	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		T	47095827	C	T	47095827	2	4	585	1	0	0	0	0	0	0	0	1	8825	871	31	1		1	LIPG	18	47095827	Silent	SNP	C	TCGA-CZ-5455-01A-01D-1501-10		47095827	30981421	30	32028											
ATP7A	538	hgsc.bcm.edu	37	X	77254041	77254041	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chrX:77254041A>T	ENST00000341514.6	+	5	1558	c.1403A>T	c.(1402-1404)aAt>aTt	p.N468I	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.N468I	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	468					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACTTCAACTAATGAATTTTAT	0.418																																																0													159	151	154					X																	77254041		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1403A>T	X.37:g.77254041A>T	ENSP00000345728:p.Asn468Ile		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	A	4.764	0.141999	0.09083	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.96334	-3.98;-3.98	5.23	-0.62	0.11567	.	0.640599	0.13961	N	0.350801	D	0.89543	0.6745	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.006	B;B	0.20184	0.028;0.018	T	0.80130	-0.1511	10	0.37606	T	0.19	-3.1724	4.2931	0.10888	0.4089:0.4084:0.078:0.1048	.	468;478	Q04656;Q59HD1	ATP7A_HUMAN;.	I	468;468;478	ENSP00000343026:N468I;ENSP00000345728:N468I	ENSP00000345728:N468I	N	+	2	0	ATP7A	77140697	0.255000	0.24002	0.414000	0.26521	0.059000	0.15707	0.793000	0.26944	-0.054000	0.13266	0.486000	0.48141	AAT		0.418	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		T	77254041	A	T	77254041	3	4	585	1	0	0	0	0	1	0	0	0	1190	101	4	5	1417	5	ATP7A	23	77254041	Missense_Mutation	SNP	A	TCGA-CZ-5455-01A-01D-1501-10		77254041	78016519	31	32029											
VHL	7428	hgsc.bcm.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-CZ-5455-01A-01W-1528-10	TCGA-CZ-5455-11A-01W-1528-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	18d638e2-3061-4ea5-8ad5-93559d1eabb0	cd5529f7-7518-4681-8443-92e6d3d8ad6f	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7	11	9					3																	10183725		2133	4211	6344	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>A	3.37:g.10183725C>A	ENSP00000256474:p.Ser65*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576281	0.86645	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.54	4.67	0.58626	.	0.055860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	rs5030826	.	.	.	X	65	.	ENSP00000256474:S65X	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183725	C	A	10183725	4	1	586	1	0	0	0	0	0	1	0	0	17167	893	31	4	196	4	VHL	3	10183725	Nonsense_Mutation	SNP	C	TCGA-CZ-5455-01A-01W-1528-10		10183725	187838705	1	32030											
CAMTA1	23261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	7797034	7797034	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr1:7797034C>T	ENST00000303635.7	+	14	3514	c.3307C>T	c.(3307-3309)Ccc>Tcc	p.P1103S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P1103S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P1103S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGAAGTTGACCCCTTGAATGT	0.488			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	1	Substitution - Missense(1)	kidney(1)											146	128	134					1																	7797034		2203	4300	6503	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3307C>T	1.37:g.7797034C>T	ENSP00000306522:p.Pro1103Ser		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134019	0.94517	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.35421	1.31;1.31	5.61	5.61	0.85477	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.998;0.997	T	0.49214	-0.8963	10	0.37606	T	0.19	-19.7132	19.6383	0.95746	0.0:1.0:0.0:0.0	.	1103;190;59;1103	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	S	1103;1103;190;59	ENSP00000306522:P1103S;ENSP00000402561:P1103S	ENSP00000306522:P1103S	P	+	1	0	CAMTA1	7719621	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.440000	0.80464	2.631000	0.89168	0.655000	0.94253	CCC		0.488	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		T	7797034	C	T	7797034	3	4	587	1	0	0	0	0	1	0	0	0	2615	623	22	2	3361	2	CAMTA1	1	7797034	Missense_Mutation	SNP	C	TCGA-CZ-5456-01A-01D-1501-10		7797034	241453587	1	32031											
CASZ1	54897	broad.mit.edu	37	1	10711096	10711097	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr1:10711096_10711097insG	ENST00000377022.3	-	12	3034_3035	c.2717_2718insC	c.(2716-2718)ccgfs	p.P906fs	CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.P906fs|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	906					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCACTTGGGCCGGGGGGAACCT	0.698																																																0																																										SO:0001589	frameshift_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2718dupC	1.37:g.10711102_10711102dupG	ENSP00000366221:p.Pro906fs		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Ins	INS	ENST00000377022.3	37	CCDS41246.1																																																																																				0.698	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		G	10711097	-	G	10711096	7	5	587	1	0	1	1	0	0	0	0	0	2687	639	23	0	2605	0	CASZ1	1	10711096	Frame_Shift_Ins	INS	-	TCGA-CZ-5456-01A-01D-1501-10	2914062	10711096	238539525	2	32032											
TMEM59	9528	broad.mit.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54509109	54509110	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr1:54509109_54509110GC>AT	ENST00000234831.5	-	4	728_729	c.479_480GC>AT	c.(478-480)aGC>aAT	p.S160N	TMEM59_ENST00000371348.1_Missense_Mutation_p.S29N|TMEM59_ENST00000371344.1_Missense_Mutation_p.S29N|TMEM59_ENST00000371341.1_Missense_Mutation_p.S29N	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	160					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.S160N(1)|p.S160S(1)		kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGGTTATGAAGCTCTGTGCGGA	0.396																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	9528			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 8"	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.479_480delinsAT	1.37:g.54509109_54509110delinsAT	ENSP00000234831:p.Ser160Asn		B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Silent|Missense_Mutation	SNP	ENST00000234831.5	37	CCDS586.1																																																																																				0.396	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	NM_004872		AT	54509110	GC	AT	54509109	3	1	587	1	0	0	0	0	1	0	0	0	16190	962	34	2	511	2	TMEM59	1	54509109	Missense_Mutation	DNP	GC	TCGA-CZ-5456-01A-01D-1501-10	43798013	54509109	194741512	3	32033											
NOTCH2	4853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120458045	120458045	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr1:120458045A>G	ENST00000256646.2	-	34	7519	c.7300T>C	c.(7300-7302)Tct>Cct	p.S2434P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2434					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.S2434P(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCAGTCAGAAGCAGAGTGG	0.587			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	kidney(1)											104	100	102					1																	120458045		2203	4300	6503	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.7300T>C	1.37:g.120458045A>G	ENSP00000256646:p.Ser2434Pro		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157426	0.78114	.	.	ENSG00000134250	ENST00000256646	D	0.84223	-1.82	5.66	5.66	0.87406	Domain of unknown function DUF3454, notch (1);	0.000000	0.36134	U	0.002776	D	0.91178	0.7221	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92601	0.6091	10	0.87932	D	0	.	15.0762	0.72080	1.0:0.0:0.0:0.0	.	2434	Q04721	NOTC2_HUMAN	P	2434	ENSP00000256646:S2434P	ENSP00000256646:S2434P	S	-	1	0	NOTCH2	120259568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.262000	0.95591	2.157000	0.67596	0.533000	0.62120	TCT		0.587	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		G	120458045	A	G	120458045	3	3	587	1	0	0	0	0	1	0	0	0	10550	246	9	3	119	3	NOTCH2	1	120458045	Missense_Mutation	SNP	A	TCGA-CZ-5456-01A-01D-1501-10	65948936	120458045	128792576	4	32034											
ANKRD35	148741	broad.mit.edu;ucsc.edu	37	1	145558859	145558859	+	Missense_Mutation	SNP	G	G	A	rs150752253	byFrequency	TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr1:145558859G>A	ENST00000355594.4	+	7	565	c.478G>A	c.(478-480)Gca>Aca	p.A160T	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	160								p.A160T(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGATGATCGCATCGCTGGG	0.577																																					Melanoma(9;127 754 22988 51047)											1	Substitution - Missense(1)	kidney(1)						G	THR/ALA	0,4406		0,0,2203	129	121	124		478	5.5	0.9	1	dbSNP_134	124	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ANKRD35	NM_144698.3	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	160/1002	145558859	4,13002	2203	4300	6503	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.478G>A	1.37:g.145558859G>A	ENSP00000347802:p.Ala160Thr		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119812	0.77323	0.0	4.65E-4	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.81163	-1.46	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.45606	D	0.000347	D	0.90679	0.7076	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91992	0.5604	10	0.59425	D	0.04	-11.9671	14.9105	0.70752	0.0:0.0:1.0:0.0	.	160	Q8N283	ANR35_HUMAN	T	69;160	ENSP00000347802:A160T	ENSP00000347802:A160T	A	+	1	0	ANKRD35	144270216	0.992000	0.36948	0.915000	0.36163	0.345000	0.29048	4.990000	0.63876	2.583000	0.87209	0.655000	0.94253	GCA		0.577	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		A	145558859	G	A	145558859	3	1	587	1	0	0	0	0	1	0	0	0	664	1087	38	1	504	1	ANKRD35	1	145558859	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	25100814	145558859	103691762	5	32035											
HRNR	388697	broad.mit.edu	37	1	152188024	152188024	+	Silent	SNP	C	C	G	rs142170860		TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr1:152188024C>G	ENST00000368801.2	-	3	6156	c.6081G>C	c.(6079-6081)tcG>tcC	p.S2027S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2027					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S2027S(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.562																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											348	495	444					1																	152188024		2158	4162	6320	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6081G>C	1.37:g.152188024C>G			Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																				0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		G	152188024	C	G	152188024	2	3	587	1	0	0	0	0	0	0	0	1	7361	871	31	4		4	HRNR	1	152188024	Silent	SNP	C	TCGA-CZ-5456-01A-01D-1501-10	6629165	152188024	97062597	6	32036											
FLG	2312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152283596	152283596	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr1:152283596G>T	ENST00000368799.1	-	3	3801	c.3766C>A	c.(3766-3768)Caa>Aaa	p.Q1256K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1256	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q1256K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGATGATTGTTCCTGTCCC	0.572									Ichthyosis																																							1	Substitution - Missense(1)	kidney(1)											276	261	266					1																	152283596		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3766C>A	1.37:g.152283596G>T	ENSP00000357789:p.Gln1256Lys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	3.540	-0.093821	0.07053	.	.	ENSG00000143631	ENST00000368799	T	0.01613	4.73	2.56	-0.918	0.10482	.	.	.	.	.	T	0.00524	0.0017	M	0.69823	2.125	0.09310	N	1	B	0.21452	0.056	B	0.18263	0.021	T	0.50939	-0.8768	9	0.06236	T	0.91	.	0.9171	0.01307	0.1554:0.2329:0.3741:0.2376	.	1256	P20930	FILA_HUMAN	K	1256	ENSP00000357789:Q1256K	ENSP00000357789:Q1256K	Q	-	1	0	FLG	150550220	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.697000	0.05098	0.292000	0.22492	-1.205000	0.01647	CAA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152283596	G	T	152283596	3	4	587	1	0	0	0	0	1	0	0	0	5924	1386	48	4	8423	4	FLG	1	152283596	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	95572	152283596	96967025	7	32037											
ATP1A2	477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160091025	160091025	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr1:160091025A>T	ENST00000361216.3	+	3	250	c.161A>T	c.(160-162)cAa>cTa	p.Q54L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q54L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	54					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.Q54L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGCAAATACCAAGTGGACCTG	0.517																																																1	Substitution - Missense(1)	kidney(1)											181	182	182					1																	160091025		2203	4300	6503	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.161A>T	1.37:g.160091025A>T	ENSP00000354490:p.Gln54Leu		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814821	0.50527	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	T;T	0.79845	-1.31;-1.31	4.56	4.56	0.56223	ATPase, P-type cation-transporter, N-terminal (2);	0.347566	0.26366	N	0.024794	T	0.69369	0.3103	M	0.72479	2.2	0.36861	D	0.888409	B	0.09022	0.002	B	0.27608	0.081	T	0.73216	-0.4053	10	0.62326	D	0.03	.	7.8322	0.29349	0.9055:0.0:0.0945:0.0	.	54	P50993	AT1A2_HUMAN	L	54	ENSP00000354490:Q54L;ENSP00000376066:Q54L	ENSP00000354490:Q54L	Q	+	2	0	ATP1A2	158357649	0.914000	0.31030	1.000000	0.80357	0.997000	0.91878	1.777000	0.38604	1.915000	0.55452	0.533000	0.62120	CAA		0.517	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		T	160091025	A	T	160091025	3	4	587	1	0	0	0	0	1	0	0	0	1129	130	5	5	171	5	ATP1A2	1	160091025	Missense_Mutation	SNP	A	TCGA-CZ-5456-01A-01D-1501-10	7807429	160091025	89159596	8	32038											
SELE	6401	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169701065	169701065	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr1:169701065G>A	ENST00000333360.7	-	4	579	c.440C>T	c.(439-441)tCc>tTc	p.S147F	SELE_ENST00000367775.1_Missense_Mutation_p.S147F|SELE_ENST00000367774.1_Missense_Mutation_p.S147F|SELE_ENST00000367781.4_Missense_Mutation_p.S147F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.S147F|SELE_ENST00000367779.4_Missense_Mutation_p.S147F|SELE_ENST00000367777.1_Missense_Mutation_p.S147F|SELE_ENST00000367782.4_Missense_Mutation_p.S147F|SELE_ENST00000367780.4_Missense_Mutation_p.S147F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	147	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.S147F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GCCACTGCAGGATGTATTGGT	0.443																																																1	Substitution - Missense(1)	kidney(1)											117	99	105					1																	169701065		2203	4300	6503	SO:0001583	missense	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.440C>T	1.37:g.169701065G>A	ENSP00000331736:p.Ser147Phe		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348803	0.61183	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	D;D;D;D;D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	5.5	5.5	0.81552	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.40144	N	0.001175	D	0.96716	0.8928	M	0.90922	3.16	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	D	0.97318	0.9942	10	0.87932	D	0	-15.8882	16.9766	0.86315	0.0:0.0:1.0:0.0	.	147	P16581	LYAM2_HUMAN	F	147	ENSP00000356755:S147F;ENSP00000356756:S147F;ENSP00000356754:S147F;ENSP00000356753:S147F;ENSP00000331736:S147F;ENSP00000356751:S147F;ENSP00000356749:S147F;ENSP00000356750:S147F;ENSP00000356748:S147F	ENSP00000331736:S147F	S	-	2	0	SELE	167967689	1.000000	0.71417	0.989000	0.46669	0.457000	0.32468	4.909000	0.63314	2.601000	0.87937	0.586000	0.80456	TCC		0.443	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		A	169701065	G	A	169701065	3	1	587	1	0	0	0	0	1	0	0	0	14019	1174	41	2	1432	2	SELE	1	169701065	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	9610040	169701065	79549556	9	32039											
PRRX1	5396	broad.mit.edu	37	1	170695367	170695367	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr1:170695367T>C	ENST00000239461.6	+	3	737	c.424T>C	c.(424-426)Ttt>Ctt	p.F142L	PRRX1_ENST00000367760.3_Missense_Mutation_p.F142L|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.F142L	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	142					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.F142L(2)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAGGTGTGGTTTCAGAACCG	0.448																																																2	Substitution - Missense(2)	kidney(2)											52	50	50					1																	170695367		2203	4300	6503	SO:0001583	missense	5396			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.424T>C	1.37:g.170695367T>C	ENSP00000239461:p.Phe142Leu		B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.500349	0.85176	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230	D;D;D	0.99741	-6.6;-6.6;-6.6	5.5	4.36	0.52297	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.100268	0.64402	D	0.000002	D	0.99866	0.9937	H	0.99830	4.82	0.80722	D	1	D;B	0.57257	0.979;0.033	D;B	0.71414	0.973;0.014	D	0.96806	0.9593	10	0.87932	D	0	.	11.6755	0.51427	0.0:0.0:0.1485:0.8515	.	142;142	P54821;P54821-2	PRRX1_HUMAN;.	L	142	ENSP00000356734:F142L;ENSP00000239461:F142L;ENSP00000450762:F142L	ENSP00000239461:F142L	F	+	1	0	PRRX1	168961991	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.743000	0.68655	0.894000	0.36317	0.454000	0.30748	TTT		0.448	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		C	170695367	T	C	170695367	3	2	587	1	0	0	0	0	1	0	0	0	12617	1725	60	3	434	3	PRRX1	1	170695367	Missense_Mutation	SNP	T	TCGA-CZ-5456-01A-01D-1501-10	994302	170695367	78555254	10	32040											
NFE2L2	4780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																													Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	15	Substitution - Missense(15)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)											66	59	61					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>C	2.37:g.178098960C>G	ENSP00000380252:p.Asp29His		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072800	0.76415	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	13;29;13;13;13;13;13	ENSP00000380253:D13H;ENSP00000380252:D29H;ENSP00000411575:D13H;ENSP00000391590:D13H;ENSP00000400073:D13H;ENSP00000412191:D13H;ENSP00000410015:D13H	ENSP00000380252:D29H	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		G	178098960	C	G	178098960	3	3	587	1	0	0	0	0	1	0	0	0	10370	913	32	4	1748	4	NFE2L2	2	178098960	Missense_Mutation	SNP	C	TCGA-CZ-5456-01A-01D-1501-10		178098960	65100413	11	32041											
PDE11A	50940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178936671	178936671	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr2:178936671G>A	ENST00000286063.6	-	1	811	c.494C>T	c.(493-495)cCc>cTc	p.P165L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	165					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.P165L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TGTGGTGGGGGGCAGGGAGCT	0.577									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							1	Substitution - Missense(1)	kidney(1)											69	67	68					2																	178936671		2203	4300	6503	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.494C>T	2.37:g.178936671G>A	ENSP00000286063:p.Pro165Leu		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708416	0.89018	.	.	ENSG00000128655	ENST00000286063	T	0.68624	-0.34	4.92	4.92	0.64577	.	0.384943	0.31936	N	0.006829	T	0.77294	0.4109	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.79764	-0.1666	10	0.66056	D	0.02	.	17.1044	0.86658	0.0:0.0:1.0:0.0	.	165	Q9HCR9	PDE11_HUMAN	L	165	ENSP00000286063:P165L	ENSP00000286063:P165L	P	-	2	0	PDE11A	178644917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.257000	0.95545	2.281000	0.76405	0.655000	0.94253	CCC		0.577	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			A	178936671	G	A	178936671	3	1	587	1	0	0	0	0	1	0	0	0	11633	1232	43	2	2387	2	PDE11A	2	178936671	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	837711	178936671	64262702	12	32042											
KIF1A	547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	241724433	241724433	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr2:241724433G>C	ENST00000320389.7	-	7	851	c.693C>G	c.(691-693)gaC>gaG	p.D231E	KIF1A_ENST00000498729.2_Missense_Mutation_p.D231E	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	231	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.D231E(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGGTCTCTGCGTCATGGCGCT	0.607																																																1	Substitution - Missense(1)	kidney(1)											256	266	263					2																	241724433		2202	4300	6502	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.693C>G	2.37:g.241724433G>C	ENSP00000322791:p.Asp231Glu		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.00|13.00	2.106668|2.106668	0.37145|0.37145	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000428768	T;T;T|.	0.74315|.	-0.83;-0.83;-0.83|.	4.04|4.04	-6.54|-6.54	0.01860|0.01860	Kinesin, motor domain (4);|.	0.059543|.	0.64402|.	U|.	0.000004|.	T|T	0.51534|0.51534	0.1680|0.1680	L|L	0.42744|0.42744	1.35|1.35	0.49915|0.49915	D|D	0.99983|0.99983	B;B;B|.	0.21147|.	0.048;0.02;0.052|.	B;B;B|.	0.23716|.	0.048;0.007;0.022|.	T|T	0.56098|0.56098	-0.8035|-0.8035	10|5	0.72032|.	D|.	0.01|.	.|.	12.6682|12.6682	0.56853|0.56853	0.6434:0.0:0.3566:0.0|0.6434:0.0:0.3566:0.0	.|.	231;231;231|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	E|G	231|39	ENSP00000322791:D231E;ENSP00000438388:D231E;ENSP00000384231:D231E|.	ENSP00000322791:D231E|.	D|R	-|-	3|1	2|0	KIF1A|KIF1A	241373106|241373106	0.001000|0.001000	0.12720|0.12720	0.827000|0.827000	0.32855|0.32855	0.691000|0.691000	0.40173|0.40173	-1.307000|-1.307000	0.02733|0.02733	-1.005000|-1.005000	0.03417|0.03417	-1.166000|-1.166000	0.01754|0.01754	GAC|CGC		0.607	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		C	241724433	G	C	241724433	3	2	587	1	0	0	0	0	1	0	0	0	8285	1136	40	4	4543	4	KIF1A	2	241724433	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	62787762	241724433	1474940	13	32043											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52588818	52588818	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr3:52588818delG	ENST00000296302.7	-	27	4532	c.4531delC	c.(4531-4533)cagfs	p.Q1511fs	PBRM1_ENST00000409767.1_Intron|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.Q1456fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.Q1404fs|PBRM1_ENST00000409114.3_Intron|PBRM1_ENST00000337303.4_Intron|RNU6-856P_ENST00000516959.1_RNA|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.Q1431fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.Q1424fs			Q86U86	PB1_HUMAN	polybromo 1	1511	Pro-rich.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGAAGTGGCTGCATGCTGCCC	0.592			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													49	48	49					3																	52588818		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4531delC	3.37:g.52588818delG	ENSP00000296302:p.Gln1511fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.592	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52588818	G	-	52588818	7	5	587	1	0	1	0	1	0	0	0	0	11493	1328	46	0	554	0	PBRM1	3	52588818	Frame_Shift_Del	DEL	G	TCGA-CZ-5456-01A-01D-1501-10		52588818	145433612	14	32044											
CACNA1D	776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53777118	53777118	+	Silent	SNP	G	G	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr3:53777118G>T	ENST00000350061.5	+	22	3403	c.2892G>T	c.(2890-2892)ggG>ggT	p.G964G	CACNA1D_ENST00000288139.4_Silent_p.G984G|CACNA1D_ENST00000422281.2_Silent_p.G964G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	964					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.G984G(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGTGGTTGGGGTGTCTCTGG	0.433																																																1	Substitution - coding silent(1)	kidney(1)											230	240	236					3																	53777118		2203	4300	6503	SO:0001819	synonymous_variant	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2892G>T	3.37:g.53777118G>T			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	CCDS46848.1																																																																																				0.433	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		T	53777118	G	T	53777118	2	4	587	1	0	0	0	0	0	0	0	1	2543	1219	43	4		4	CACNA1D	3	53777118	Silent	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	1188300	53777118	144245312	15	32045											
RASA2	5922	broad.mit.edu	37	3	141295907	141295907	+	Missense_Mutation	SNP	G	G	A	rs201190266		TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr3:141295907G>A	ENST00000452898.1	+	15	1584	c.1549G>A	c.(1549-1551)Gta>Ata	p.V517I	RASA2_ENST00000286364.3_Missense_Mutation_p.V517I	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	517	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.V517I(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGCTGTAGCCGTAGTATCACC	0.353																																																2	Substitution - Missense(2)	kidney(2)											228	215	219					3																	141295907		2203	4300	6503	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1549G>A	3.37:g.141295907G>A	ENSP00000391677:p.Val517Ile		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37		.	.	.	.	.	.	.	.	.	.	G	7.080	0.570046	0.13560	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.71934	-0.61;-0.61	6.03	4.24	0.50183	Ras GTPase-activating protein, conserved site (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.059991	0.64402	N	0.000004	T	0.35653	0.0939	N	0.00808	-1.17	0.49213	D	0.999769	B;B;B;B	0.21147	0.052;0.005;0.004;0.005	B;B;B;B	0.21917	0.037;0.012;0.007;0.012	T	0.43376	-0.9395	10	0.02654	T	1	.	12.1791	0.54202	0.1391:0.0:0.8609:0.0	.	109;517;517;517	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	I	517;517;109	ENSP00000286364:V517I;ENSP00000391677:V517I	ENSP00000286364:V517I	V	+	1	0	RASA2	142778597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.269000	0.72558	0.870000	0.35726	0.557000	0.71058	GTA		0.353	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		A	141295907	G	A	141295907	3	1	587	1	0	0	0	0	1	0	0	0	13067	1145	40	1	1607	1	RASA2	3	141295907	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	87518789	141295907	56726523	16	32046											
KIAA1530	57654	broad.mit.edu	37	4	1343562	1343562	+	Missense_Mutation	SNP	G	G	A	rs201486316		TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr4:1343562G>A	ENST00000389851.4	+	3	796	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	UVSSA_ENST00000511216.1_Missense_Mutation_p.V117M|UVSSA_ENST00000507531.1_Missense_Mutation_p.V117M	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	117	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)	p.V117M(1)									CACCCGGGCCGTGGAAGGGTG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		13312	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											30	36	34					4																	1343562		2203	4300	6503	SO:0001583	missense	0			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.349G>A	4.37:g.1343562G>A	ENSP00000374501:p.Val117Met		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.73	2.025870	0.35701	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.24151	1.87;1.87;1.87	4.89	3.01	0.34805	.	0.129672	0.51477	D	0.000087	T	0.34542	0.0901	L	0.48218	1.51	0.80722	D	1	D	0.76494	0.999	P	0.57371	0.819	T	0.03945	-1.0990	10	0.41790	T	0.15	.	10.9687	0.47426	0.1639:0.0:0.8361:0.0	.	117	Q2YD98	K1530_HUMAN	M	117	ENSP00000425130:V117M;ENSP00000374501:V117M;ENSP00000421741:V117M	ENSP00000374501:V117M	V	+	1	0	KIAA1530	1333562	0.988000	0.35896	0.054000	0.19295	0.107000	0.19398	1.927000	0.40094	0.948000	0.37687	0.591000	0.81541	GTG		0.627	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		A	1343562	G	A	1343562	3	1	587	1	0	0	0	0	1	0	0	0	8243	1145	40	1	355	1	KIAA1530	4	1343562	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10		1343562	189810714	17	32047											
SLIT2	9353	broad.mit.edu;ucsc.edu	37	4	20512749	20512749	+	Silent	SNP	T	T	C			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr4:20512749T>C	ENST00000504154.1	+	11	1299	c.1047T>C	c.(1045-1047)tcT>tcC	p.S349S	SLIT2_ENST00000503837.1_Silent_p.S353S|SLIT2_ENST00000503823.1_Silent_p.S349S|SLIT2_ENST00000273739.5_Silent_p.S353S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	349					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.S349S(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GACTACGCTCTCTGAATTCAC	0.383																																																1	Substitution - coding silent(1)	kidney(1)											88	86	87					4																	20512749		2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1047T>C	4.37:g.20512749T>C			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																				0.383	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			C	20512749	T	C	20512749	2	2	587	1	0	0	0	0	0	0	0	1	14746	1538	54	3		3	SLIT2	4	20512749	Silent	SNP	T	TCGA-CZ-5456-01A-01D-1501-10	19169187	20512749	170641527	18	32048											
SRP72	6731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57349375	57349375	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr4:57349375C>T	ENST00000342756.5	+	9	1617	c.896C>T	c.(895-897)tCc>tTc	p.S299F	SRP72_ENST00000510663.1_Missense_Mutation_p.S238F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	299					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.S299F(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TTTAAGCTTTCCAAGAAACAA	0.348																																																1	Substitution - Missense(1)	kidney(1)											77	76	76					4																	57349375		2203	4299	6502	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.896C>T	4.37:g.57349375C>T	ENSP00000342181:p.Ser299Phe		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898229	0.72639	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.80123	-1.34;-1.26	5.72	5.72	0.89469	.	0.159818	0.56097	D	0.000029	T	0.76328	0.3972	L	0.35854	1.095	0.41235	D	0.986605	P;B	0.51057	0.941;0.083	P;B	0.51385	0.668;0.034	T	0.71839	-0.4471	10	0.06494	T	0.89	.	13.0113	0.58733	0.0:0.8379:0.1621:0.0	.	238;299	G5E9Z8;O76094	.;SRP72_HUMAN	F	299;244;238	ENSP00000342181:S299F;ENSP00000424576:S238F	ENSP00000342181:S299F	S	+	2	0	SRP72	57044132	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.800000	0.62524	2.694000	0.91930	0.655000	0.94253	TCC		0.348	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			T	57349375	C	T	57349375	3	4	587	1	0	0	0	0	1	0	0	0	15162	855	30	2	930	2	SRP72	4	57349375	Missense_Mutation	SNP	C	TCGA-CZ-5456-01A-01D-1501-10	36836626	57349375	133804901	19	32049											
WDFY3	23001	hgsc.bcm.edu;ucsc.edu	37	4	85738690	85738690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr4:85738690delT	ENST00000295888.4	-	13	2149	c.1742delA	c.(1741-1743)aagfs	p.K581fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.K581fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	581					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGAGGGTACTTTACTATATT	0.448																																																0													130	129	129					4																	85738690		2203	4300	6503	SO:0001589	frameshift_variant	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1742delA	4.37:g.85738690delT	ENSP00000295888:p.Lys581fs		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	CCDS3609.1																																																																																				0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		-	85738690	T	-	85738690	7	5	587	1	0	1	0	1	0	0	0	0	17275	1609	56	0	9105	0	WDFY3	4	85738690	Frame_Shift_Del	DEL	T	TCGA-CZ-5456-01A-01D-1501-10	28389315	85738690	105415586	20	32050											
SH3RF1	57630	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	170190302	170190302	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr4:170190302G>A	ENST00000284637.9	-	2	403	c.62C>T	c.(61-63)gCt>gTt	p.A21V	SH3RF1_ENST00000508685.1_5'Flank	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	21					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A21V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTTCGCAGAAGCATCAAGGCG	0.458																																																1	Substitution - Missense(1)	kidney(1)											62	62	62					4																	170190302		2203	4300	6503	SO:0001583	missense	57630			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.62C>T	4.37:g.170190302G>A	ENSP00000284637:p.Ala21Val		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361191	0.61403	.	.	ENSG00000154447	ENST00000284637;ENST00000502315;ENST00000510806	D;D;D	0.86030	-2.06;-2.06;-2.06	5.24	4.39	0.52855	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.76521	0.3999	N	0.19112	0.55	0.58432	D	0.999999	B	0.28470	0.213	B	0.34824	0.19	T	0.69614	-0.5098	10	0.16420	T	0.52	-9.8633	14.1581	0.65430	0.0732:0.0:0.9268:0.0	.	21	Q7Z6J0	SH3R1_HUMAN	V	21	ENSP00000284637:A21V;ENSP00000427585:A21V;ENSP00000421714:A21V	ENSP00000284637:A21V	A	-	2	0	SH3RF1	170426877	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.967000	0.87967	1.198000	0.43158	0.561000	0.74099	GCT		0.458	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		A	170190302	G	A	170190302	3	1	587	1	0	0	0	0	1	0	0	0	14264	971	34	2	2648	2	SH3RF1	4	170190302	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	84451612	170190302	20963974	21	32051											
GPM6A	2823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	176556193	176556193	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr4:176556193delC	ENST00000280187.7	-	8	745	c.700delG	c.(700-702)gttfs	p.V234fs	GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000515090.1_Frame_Shift_Del_p.V227fs|GPM6A_ENST00000393658.2_Frame_Shift_Del_p.V234fs|GPM6A_ENST00000506894.1_Frame_Shift_Del_p.V223fs	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	234					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCAGACAGAACCATAAGGTAG	0.413																																																0													69	65	67					4																	176556193		2203	4300	6503	SO:0001589	frameshift_variant	2823				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.700delG	4.37:g.176556193delC	ENSP00000280187:p.Val234fs		B7Z642|E9PHI5|Q92602	Frame_Shift_Del	DEL	ENST00000280187.7	37	CCDS3824.1																																																																																				0.413	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			-	176556193	C	-	176556193	7	5	587	1	0	1	0	1	0	0	0	0	6617	507	18	0	140	0	GPM6A	4	176556193	Frame_Shift_Del	DEL	C	TCGA-CZ-5456-01A-01D-1501-10	6365891	176556193	14598083	22	32052											
PCDHB9	56126	broad.mit.edu;hgsc.bcm.edu	37	5	140569080	140569080	+	5'Flank	SNP	G	G	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr5:140569080G>T	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCCCGAGGGTCCTTTTCCA	0.657																																																0													76	92	86					5																	140569080		2203	4300	6503	SO:0001631	upstream_gene_variant	56127			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626		5.37:g.140569080G>T	Exception_encountered		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																				0.657	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		T	140569080	G	T	140569080	1	4	587	0	1	0	0	0	0	0	0	0	11551	1261	44	4		4	PCDHB9	5	140569080	5'Flank	SNP	G	TCGA-CZ-5456-01A-01D-1501-10		140569080	40346180	23	32053											
CCDC99	54908	broad.mit.edu;hgsc.bcm.edu	37	5	169026150	169026150	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr5:169026150A>C	ENST00000265295.4	+	10	1590	c.1311A>C	c.(1309-1311)aaA>aaC	p.K437N		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.K437N(1)									TGAAACTAAAATATGAACCTG	0.274																																																1	Substitution - Missense(1)	kidney(1)											27	30	29					5																	169026150		2198	4296	6494	SO:0001583	missense	0			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1311A>C	5.37:g.169026150A>C	ENSP00000265295:p.Lys437Asn			Missense_Mutation	SNP	ENST00000265295.4	37	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268351	0.59540	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.38722	1.12	5.98	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	M	0.71581	2.175	0.48185	D	0.999608	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.913;0.999;0.999	T	0.56092	-0.8036	10	0.66056	D	0.02	-31.8397	5.686	0.17803	0.6241:0.0:0.3759:0.0	.	359;338;437	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	N	437;338	ENSP00000265295:K437N	ENSP00000265295:K437N	K	+	3	2	CCDC99	168958728	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	1.226000	0.32563	0.779000	0.33543	-0.462000	0.05337	AAA		0.274	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		C	169026150	A	C	169026150	3	2	587	1	0	0	0	0	1	0	0	0	2878	98	4	5	1345	5	CCDC99	5	169026150	Missense_Mutation	SNP	A	TCGA-CZ-5456-01A-01D-1501-10	28457070	169026150	11889110	24	32054											
MAML1	9794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179201812	179201812	+	Silent	SNP	C	C	G			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr5:179201812C>G	ENST00000292599.3	+	5	3248	c.2985C>G	c.(2983-2985)tcC>tcG	p.S995S	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.S995S(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATCGACTCCCTGCTGAAGA	0.537																																																1	Substitution - coding silent(1)	kidney(1)											101	93	96					5																	179201812		2203	4300	6503	SO:0001819	synonymous_variant	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2985C>G	5.37:g.179201812C>G				Silent	SNP	ENST00000292599.3	37	CCDS34315.1																																																																																				0.537	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		G	179201812	C	G	179201812	2	3	587	1	0	0	0	0	0	0	0	1	9207	610	22	4		4	MAML1	5	179201812	Silent	SNP	C	TCGA-CZ-5456-01A-01D-1501-10	10175662	179201812	1713448	25	32055											
CD2AP	23607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	47567071	47567071	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr6:47567071T>A	ENST00000359314.5	+	13	1765	c.1309T>A	c.(1309-1311)Ttt>Att	p.F437I		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	437					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.F437I(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTCATCAAAATTTGAAACTGA	0.338																																																1	Substitution - Missense(1)	kidney(1)											52	53	53					6																	47567071		2203	4300	6503	SO:0001583	missense	23607			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1309T>A	6.37:g.47567071T>A	ENSP00000352264:p.Phe437Ile		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	T	9.173	1.021674	0.19433	.	.	ENSG00000198087	ENST00000359314	T	0.22945	1.93	5.92	3.38	0.38709	.	2.671650	0.01627	N	0.023341	T	0.07593	0.0191	L	0.27053	0.805	0.21967	N	0.999441	B	0.02656	0.0	B	0.04013	0.001	T	0.22277	-1.0221	10	0.22109	T	0.4	-7.0793	9.8098	0.40815	0.2819:0.0:0.0:0.7181	.	437	Q9Y5K6	CD2AP_HUMAN	I	437	ENSP00000352264:F437I	ENSP00000352264:F437I	F	+	1	0	CD2AP	47675030	1.000000	0.71417	0.995000	0.50966	0.212000	0.24457	1.975000	0.40569	1.025000	0.39708	0.454000	0.30748	TTT		0.338	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			A	47567071	T	A	47567071	3	1	587	1	0	0	0	0	1	0	0	0	2996	1493	52	5	1359	5	CD2AP	6	47567071	Missense_Mutation	SNP	T	TCGA-CZ-5456-01A-01D-1501-10		47567071	123547996	26	32056											
COL1A2	1278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94051214	94051214	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr7:94051214A>G	ENST00000297268.6	+	39	2824	c.2353A>G	c.(2353-2355)Atg>Gtg	p.M785V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	785			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.M785V(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCTTAGGGTATGACTGGTTT	0.443										HNSCC(75;0.22)																																						1	Substitution - Missense(1)	kidney(1)											150	127	135					7																	94051214		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2353A>G	7.37:g.94051214A>G	ENSP00000297268:p.Met785Val		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.261476	0.23051	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94046	-3.34	5.35	-0.246	0.13022	.	1.181480	0.05959	N	0.640208	D	0.86297	0.5899	N	0.11756	0.17	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.73591	-0.3934	10	0.46703	T	0.11	.	10.5516	0.45092	0.4512:0.0:0.5488:0.0	.	785	P08123	CO1A2_HUMAN	V	785;786	ENSP00000297268:M785V	ENSP00000297268:M785V	M	+	1	0	COL1A2	93889150	0.000000	0.05858	0.251000	0.24312	0.983000	0.72400	-0.111000	0.10807	-0.021000	0.14009	-0.290000	0.09829	ATG		0.443	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		G	94051214	A	G	94051214	3	3	587	1	0	0	0	0	1	0	0	0	3680	449	16	3	2507	3	COL1A2	7	94051214	Missense_Mutation	SNP	A	TCGA-CZ-5456-01A-01D-1501-10		94051214	65087449	27	32057											
POT1	25913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	124493109	124493109	+	Silent	SNP	C	C	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr7:124493109C>T	ENST00000357628.3	-	10	1384	c.786G>A	c.(784-786)gaG>gaA	p.E262E	POT1_ENST00000393329.1_Silent_p.E131E	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	262					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.E262E(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GAAGATGAAACTCTAAACTTA	0.358																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											2	Substitution - coding silent(2)	kidney(2)											109	102	104					7																	124493109		2203	4300	6503	SO:0001819	synonymous_variant	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.786G>A	7.37:g.124493109C>T			O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Silent	SNP	ENST00000357628.3	37	CCDS5793.1																																																																																				0.358	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			T	124493109	C	T	124493109	2	4	587	1	0	0	0	0	0	0	0	1	12262	564	20	2		2	POT1	7	124493109	Silent	SNP	C	TCGA-CZ-5456-01A-01D-1501-10	30441895	124493109	34645554	28	32058											
MKLN1	4289	hgsc.bcm.edu;ucsc.edu	37	7	131122679	131122679	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr7:131122679delA	ENST00000352689.6	+	10	1136	c.1096delA	c.(1096-1098)attfs	p.I366fs	MKLN1_ENST00000421797.2_Frame_Shift_Del_p.I274fs	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	366					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TCGTTATGACATTGATACAAA	0.403																																																0													223	213	216					7																	131122679		2203	4300	6503	SO:0001589	frameshift_variant	4289			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1096delA	7.37:g.131122679delA	ENSP00000323527:p.Ile366fs		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Frame_Shift_Del	DEL	ENST00000352689.6	37	CCDS34754.1																																																																																				0.403	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		-	131122679	A	-	131122679	7	5	587	1	0	1	0	1	0	0	0	0	9605	217	8	0	1167	0	MKLN1	7	131122679	Frame_Shift_Del	DEL	A	TCGA-CZ-5456-01A-01D-1501-10	6629570	131122679	28015984	29	32059											
EPHB6	2051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	142563322	142563322	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr7:142563322G>A	ENST00000392957.2	+	8	1826	c.1039G>A	c.(1039-1041)Gtt>Att	p.V347I	EPHB6_ENST00000442129.1_Missense_Mutation_p.V347I|EPHB6_ENST00000411471.2_Missense_Mutation_p.V70I	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	347	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.V332I(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGCAGCCCCCGTTTGCCCCTG	0.652																																																1	Substitution - Missense(1)	kidney(1)											36	36	36					7																	142563322		2203	4300	6503	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1039G>A	7.37:g.142563322G>A	ENSP00000376684:p.Val347Ile		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.458269	0.01071	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.71222	-0.5;-0.5;-0.55	5.43	-8.87	0.00792	.	1.203620	0.06175	N	0.678426	T	0.40546	0.1121	N	0.04705	-0.18	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34775	-0.9815	10	0.11485	T	0.65	.	9.4073	0.38469	0.5527:0.2561:0.1912:0.0	.	347	O15197	EPHB6_HUMAN	I	347;347;70	ENSP00000376684:V347I;ENSP00000410789:V347I;ENSP00000409061:V70I	ENSP00000376684:V347I	V	+	1	0	EPHB6	142273444	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.698000	0.05092	-1.875000	0.01132	-1.615000	0.00797	GTT		0.652	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			A	142563322	G	A	142563322	3	1	587	1	0	0	0	0	1	0	0	0	5180	1145	40	1	1053	1	EPHB6	7	142563322	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	11440643	142563322	16575341	30	32060											
SLC7A2	6542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	17409424	17409424	+	Silent	SNP	G	G	A	rs573592866		TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr8:17409424G>A	ENST00000494857.1	+	7	1202	c.984G>A	c.(982-984)gcG>gcA	p.A328A	SLC7A2_ENST00000470360.1_Silent_p.A368A|SLC7A2_ENST00000522656.1_Silent_p.A328A|SLC7A2_ENST00000398090.3_Silent_p.A368A|SLC7A2_ENST00000004531.10_Silent_p.A368A	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	328					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.A328A(1)|p.A368A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCCTGTAGCGTTTGAATATG	0.502																																																2	Substitution - coding silent(2)	kidney(2)											135	131	132					8																	17409424		2203	4300	6503	SO:0001819	synonymous_variant	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.984G>A	8.37:g.17409424G>A			B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	CCDS34852.1																																																																																				0.502	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		A	17409424	G	A	17409424	2	1	587	1	0	0	0	0	0	0	0	1	14703	1132	40	1		1	SLC7A2	8	17409424	Silent	SNP	G	TCGA-CZ-5456-01A-01D-1501-10		17409424	128954598	31	32061											
ADRA1A	148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	26722260	26722260	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr8:26722260G>C	ENST00000519229.1	-	1	233	c.227C>G	c.(226-228)aCc>aGc	p.T76S	ADRA1A_ENST00000380587.1_Missense_Mutation_p.T76S|ADRA1A_ENST00000380586.1_Missense_Mutation_p.T76S|ADRA1A_ENST00000380572.3_Missense_Mutation_p.T76S|ADRA1A_ENST00000358857.5_Missense_Mutation_p.T76S|ADRA1A_ENST00000276393.4_Missense_Mutation_p.T76S|ADRA1A_ENST00000380582.3_Missense_Mutation_p.T76S|ADRA1A_ENST00000354550.4_Missense_Mutation_p.T76S|ADRA1A_ENST00000380573.3_Missense_Mutation_p.T76S|ADRA1A_ENST00000380581.2_Missense_Mutation_p.T76S			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	146				MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGP AVGGVPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVN G -> MAAALRSVMMAGYLSEWRTPTYRSTEMVQRLRMEAV QHSTS (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.T76S(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CACCGTGGAGGTGAGCAGGAG	0.607																																																5	Substitution - Missense(5)	kidney(5)											195	196	196					8																	26722260		2203	4300	6503	SO:0001583	missense	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.227C>G	8.37:g.26722260G>C	ENSP00000430793:p.Thr76Ser		Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37		.	.	.	.	.	.	.	.	.	.	G	2.487	-0.318373	0.05386	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.050530	0.85682	D	0.000000	T	0.07683	0.0193	N	0.00159	-1.955	0.37643	D	0.922108	B;B;B;B;B;B	0.20988	0.034;0.034;0.015;0.034;0.05;0.043	B;B;B;B;B;B	0.17979	0.007;0.007;0.011;0.012;0.013;0.02	T	0.36792	-0.9733	10	0.02654	T	1	.	11.4564	0.50185	0.0847:0.0:0.9153:0.0	.	76;76;76;76;76;76	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	S	76	ENSP00000369960:T76S;ENSP00000369961:T76S;ENSP00000369956:T76S;ENSP00000369955:T76S;ENSP00000430793:T76S;ENSP00000346557:T76S;ENSP00000276393:T76S;ENSP00000369947:T76S;ENSP00000369946:T76S;ENSP00000351725:T76S	ENSP00000276393:T76S	T	-	2	0	ADRA1A	26778177	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.072000	0.71238	2.365000	0.80145	0.563000	0.77884	ACC		0.607	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		C	26722260	G	C	26722260	3	2	587	1	0	0	0	0	1	0	0	0	334	1261	44	4	1472	4	ADRA1A	8	26722260	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	9312836	26722260	119641762	32	32062											
PENK	5179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	57354177	57354177	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr8:57354177G>C	ENST00000314922.3	-	2	534	c.458C>G	c.(457-459)tCc>tGc	p.S153C	PENK_ENST00000451791.2_Missense_Mutation_p.S153C|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	153					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.S153C(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGGTCTGAGGAATTGGCCAG	0.527																																																1	Substitution - Missense(1)	kidney(1)											108	107	107					8																	57354177		2203	4300	6503	SO:0001583	missense	5179				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.458C>G	8.37:g.57354177G>C	ENSP00000324248:p.Ser153Cys		B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708779	0.48517	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791	T;T	0.19938	2.11;2.11	5.81	5.81	0.92471	.	0.220511	0.39475	N	0.001355	T	0.43678	0.1258	M	0.67569	2.06	0.80722	D	1	D	0.76494	0.999	P	0.59825	0.864	T	0.17471	-1.0368	10	0.56958	D	0.05	-20.2407	19.0666	0.93114	0.0:0.0:1.0:0.0	.	153	P01210	PENK_HUMAN	C	153	ENSP00000324248:S153C;ENSP00000400894:S153C	ENSP00000324248:S153C	S	-	2	0	PENK	57516731	1.000000	0.71417	0.973000	0.42090	0.358000	0.29455	3.664000	0.54525	2.736000	0.93811	0.655000	0.94253	TCC		0.527	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			C	57354177	G	C	57354177	3	2	587	1	0	0	0	0	1	0	0	0	11729	1174	41	4	349	4	PENK	8	57354177	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	30631917	57354177	89009845	33	32063											
CHD7	55636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	61757864	61757864	+	Silent	SNP	C	C	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr8:61757864C>T	ENST00000423902.2	+	23	5585	c.5106C>T	c.(5104-5106)agC>agT	p.S1702S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1702					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S1702S(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGCCCAGAGCACACAGCCGG	0.507																																																2	Substitution - coding silent(2)	kidney(2)											62	70	67					8																	61757864		1991	4165	6156	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5106C>T	8.37:g.61757864C>T			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																				0.507	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		T	61757864	C	T	61757864	2	4	587	1	0	0	0	0	0	0	0	1	3332	709	25	2		2	CHD7	8	61757864	Silent	SNP	C	TCGA-CZ-5456-01A-01D-1501-10	4403687	61757864	84606158	34	32064											
RRS1	23212	broad.mit.edu;hgsc.bcm.edu	37	8	67342089	67342089	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr8:67342089G>T	ENST00000320270.2	+	1	827	c.723G>T	c.(721-723)aaG>aaT	p.K241N	ADHFE1_ENST00000415254.1_5'Flank|ADHFE1_ENST00000379385.4_5'Flank|RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000396623.3_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	241					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K241N(1)		kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCCTCCCCAAGGAGAAGGTGC	0.607																																																1	Substitution - Missense(1)	kidney(1)											19	24	23					8																	67342089		2192	4293	6485	SO:0001583	missense	23212			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.723G>T	8.37:g.67342089G>T	ENSP00000322396:p.Lys241Asn		Q9BUX8	Missense_Mutation	SNP	ENST00000320270.2	37	CCDS6189.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579380	0.46006	.	.	ENSG00000179041	ENST00000320270	D	0.87179	-2.22	5.56	4.68	0.58851	.	0.046425	0.85682	D	0.000000	D	0.83501	0.5268	L	0.43646	1.37	0.58432	D	0.999999	P	0.34462	0.454	B	0.39379	0.298	T	0.79374	-0.1830	10	0.22109	T	0.4	-29.9676	12.9467	0.58376	0.0785:0.0:0.9215:0.0	.	241	Q15050	RRS1_HUMAN	N	241	ENSP00000322396:K241N	ENSP00000322396:K241N	K	+	3	2	RRS1	67504643	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.992000	0.40737	1.360000	0.45960	0.650000	0.86243	AAG		0.607	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	NM_015169		T	67342089	G	T	67342089	3	4	587	1	0	0	0	0	1	0	0	0	13698	991	35	4	725	4	RRS1	8	67342089	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	5584225	67342089	79021933	35	32065											
ZNF704	619279	hgsc.bcm.edu;ucsc.edu	37	8	81577290	81577298	+	In_Frame_Del	DEL	ATCACTGTA	ATCACTGTA	-			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	ATCACTGTA	ATCACTGTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr8:81577290_81577298delATCACTGTA	ENST00000327835.3	-	6	910_918	c.679_687delTACAGTGAT	c.(679-687)tacagtgatdel	p.YSD227del	ZNF704_ENST00000520336.1_5'Flank	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	227							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CCTCTTCTCCATCACTGTAGTCAGAGTCT	0.493																																																0																																										SO:0001651	inframe_deletion	619279			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.679_687delTACAGTGAT	8.37:g.81577290_81577298delATCACTGTA	ENSP00000331462:p.Tyr227_Asp229del		B2RNE6|B9EGW6	In_Frame_Del	DEL	ENST00000327835.3	37	CCDS34913.1																																																																																				0.493	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		-	81577298	ATCACTGTA	-	81577290	7	5	587	1	0	1	0	1	0	0	0	0	18112	214	8	0	567	0	ZNF704	8	81577290	In_Frame_Del	DEL	ATCACTGTA	TCGA-CZ-5456-01A-01D-1501-10	14235201	81577290	64786732	36	32066											
PTPDC1	138639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	96860800	96860800	+	Missense_Mutation	SNP	T	T	A	rs201009690		TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr9:96860800T>A	ENST00000375360.3	+	7	2130	c.1790T>A	c.(1789-1791)cTa>cAa	p.L597Q	PTPDC1_ENST00000288976.3_Missense_Mutation_p.L649Q	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	597					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L649Q(1)|p.L597Q(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GCCAAAGCCCTAGCAAATTTA	0.388																																																2	Substitution - Missense(2)	kidney(2)											64	71	69					9																	96860800		2203	4300	6503	SO:0001583	missense	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1790T>A	9.37:g.96860800T>A	ENSP00000364509:p.Leu597Gln		Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.193348	0.78902	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.17213	2.29;2.29	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.75264	2.295	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.992;0.997;0.992;0.992	T	0.38628	-0.9652	10	0.87932	D	0	-14.0943	15.7905	0.78357	0.0:0.0:0.0:1.0	.	651;649;651;597	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	Q	597;649	ENSP00000364509:L597Q;ENSP00000288976:L649Q	ENSP00000288976:L649Q	L	+	2	0	PTPDC1	95900621	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.801000	0.75170	2.324000	0.78689	0.533000	0.62120	CTA		0.388	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		A	96860800	T	A	96860800	3	1	587	1	0	0	0	0	1	0	0	0	12779	1522	53	5	2054	5	PTPDC1	9	96860800	Missense_Mutation	SNP	T	TCGA-CZ-5456-01A-01D-1501-10		96860800	44352631	37	32067											
BAT2L1	84726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	134357757	134357757	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr9:134357757G>A	ENST00000357304.4	+	20	5038		c.e20-1		PRRC2B_ENST00000372249.1_Splice_Site|PRRC2B_ENST00000458550.1_Splice_Site|PRRC2B_ENST00000405995.1_Splice_Site	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B								poly(A) RNA binding (GO:0044822)	p.?(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCTCTGCACAGCAGGGTTTTA	0.537																																																2	Unknown(2)	kidney(2)											132	139	137					9																	134357757		2013	4183	6196	SO:0001630	splice_region_variant	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4984-1G>A	9.37:g.134357757G>A			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Splice_Site	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068421	0.55539	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	.	.	.	4.68	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0524	0.25081	0.0873:0.0:0.7396:0.173	.	.	.	.	.	-1	.	.	.	+	.	.	PRRC2B	133347578	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.865000	0.48412	0.947000	0.37659	-0.314000	0.08810	.		0.537	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Intron	A	134357757	G	A	134357757	5	1	587	1	0	0	0	0	0	0	1	0	1320	985	34	2	5061	2	BAT2L1	9	134357757	Splice_Site	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	37496957	134357757	6855674	38	32068											
SETX	23064	broad.mit.edu;ucsc.edu	37	9	135202159	135202159	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr9:135202159C>A	ENST00000224140.5	-	10	5008	c.4826G>T	c.(4825-4827)gGt>gTt	p.G1609V	SETX_ENST00000372169.2_Missense_Mutation_p.G1609V|SETX_ENST00000393220.1_Missense_Mutation_p.G1609V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1609					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.G1609V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTAGAAAGACCAGCAATTCG	0.408																																																1	Substitution - Missense(1)	kidney(1)											100	96	97					9																	135202159		2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4826G>T	9.37:g.135202159C>A	ENSP00000224140:p.Gly1609Val		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	5.181	0.218920	0.09810	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86230	-1.99;-2.09;-1.7	4.72	-0.998	0.10212	.	1.919010	0.02419	N	0.082386	T	0.78253	0.4254	N	0.22421	0.69	0.22926	N	0.998557	B;B;B	0.34015	0.435;0.037;0.062	B;B;B	0.33620	0.167;0.023;0.052	T	0.65973	-0.6038	10	0.31617	T	0.26	.	6.0283	0.19667	0.0:0.4118:0.24:0.3482	.	1609;1609;1609	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	V	1609	ENSP00000224140:G1609V;ENSP00000361242:G1609V;ENSP00000376913:G1609V	ENSP00000224140:G1609V	G	-	2	0	SETX	134191980	0.000000	0.05858	0.338000	0.25549	0.215000	0.24574	-0.284000	0.08422	-0.109000	0.12044	-0.302000	0.09304	GGT		0.408	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		A	135202159	C	A	135202159	3	1	587	1	0	0	0	0	1	0	0	0	14147	507	18	4	3275	4	SETX	9	135202159	Missense_Mutation	SNP	C	TCGA-CZ-5456-01A-01D-1501-10	844402	135202159	6011272	39	32069											
PHYH	5264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	13325777	13325777	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr10:13325777G>T	ENST00000263038.4	-	7	799	c.741C>A	c.(739-741)caC>caA	p.H247Q	PHYH_ENST00000396920.3_Missense_Mutation_p.H230Q|PHYH_ENST00000396913.2_Missense_Mutation_p.H147Q	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	247					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)	p.H247Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CCATCACCAGGTGCACCCGGG	0.502																																																1	Substitution - Missense(1)	kidney(1)											266	269	268					10																	13325777		2203	4300	6503	SO:0001583	missense	5264				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.741C>A	10.37:g.13325777G>T	ENSP00000263038:p.His247Gln		A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500741	0.64298	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.75	5.75	0.90469	.	0.044760	0.85682	D	0.000000	D	0.94693	0.8288	M	0.88570	2.965	0.80722	D	1	D;D	0.63046	0.966;0.992	P;D	0.71184	0.855;0.972	D	0.94477	0.7690	10	0.49607	T	0.09	-32.2325	13.1752	0.59621	0.0728:0.0:0.9272:0.0	.	230;247	B1ALH6;O14832	.;PAHX_HUMAN	Q	147;247;230;147	ENSP00000380121:H147Q;ENSP00000263038:H247Q;ENSP00000380126:H230Q;ENSP00000412525:H147Q	ENSP00000263038:H247Q	H	-	3	2	PHYH	13365783	1.000000	0.71417	0.993000	0.49108	0.680000	0.39746	2.487000	0.45268	2.707000	0.92482	0.591000	0.81541	CAC		0.502	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			T	13325777	G	T	13325777	3	4	587	1	0	0	0	0	1	0	0	0	11866	1252	44	4	287	4	PHYH	10	13325777	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10		13325777	122208970	40	32070											
EPC1	80314	hgsc.bcm.edu;ucsc.edu	37	10	32582523	32582529	+	Frame_Shift_Del	DEL	CTGACCA	CTGACCA	-	rs112553991		TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	CTGACCA	CTGACCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr10:32582523_32582529delCTGACCA	ENST00000263062.8	-	3	719_725	c.450_456delTGGTCAG	c.(448-456)agtggtcagfs	p.SGQ150fs	EPC1_ENST00000375110.2_Frame_Shift_Del_p.SGQ100fs|EPC1_ENST00000319778.6_Frame_Shift_Del_p.SGQ150fs	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	150					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GTTGTACCTGCTGACCACTGCCTTTTT	0.367																																																0																																										SO:0001589	frameshift_variant	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.450_456delTGGTCAG	10.37:g.32582523_32582529delCTGACCA	ENSP00000263062:p.Ser150fs		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Frame_Shift_Del	DEL	ENST00000263062.8	37	CCDS7172.1																																																																																				0.367	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			-	32582529	CTGACCA	-	32582523	7	5	587	1	0	1	0	1	0	0	0	0	5162	796	28	0	2106	0	EPC1	10	32582523	Frame_Shift_Del	DEL	CTGACCA	TCGA-CZ-5456-01A-01D-1501-10	19256746	32582523	102952224	41	32071											
B4GALNT4	338707	broad.mit.edu	37	11	379925	379925	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr11:379925C>T	ENST00000329962.6	+	16	2548	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	850					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.R850C(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCACGCGCGCACCGGGGA	0.687																																																1	Substitution - Missense(1)	kidney(1)											33	36	35					11																	379925		2202	4296	6498	SO:0001583	missense	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2548C>T	11.37:g.379925C>T	ENSP00000328277:p.Arg850Cys		Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	11.85	1.763055	0.31228	.	.	ENSG00000182272	ENST00000329962	T	0.36157	1.27	3.73	3.73	0.42828	.	1.152560	0.06091	N	0.663715	T	0.33469	0.0864	N	0.17082	0.46	0.09310	N	1	D	0.71674	0.998	P	0.51866	0.682	T	0.22277	-1.0221	10	0.54805	T	0.06	-8.5595	6.9118	0.24338	0.3786:0.4741:0.1473:0.0	.	850	Q76KP1	B4GN4_HUMAN	C	850	ENSP00000328277:R850C	ENSP00000328277:R850C	R	+	1	0	B4GALNT4	369925	0.001000	0.12720	0.333000	0.25482	0.287000	0.27160	0.605000	0.24179	2.073000	0.62155	0.561000	0.74099	CGC		0.687	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		T	379925	C	T	379925	3	4	587	1	0	0	0	0	1	0	0	0	1269	768	27	1	2610	1	B4GALNT4	11	379925	Missense_Mutation	SNP	C	TCGA-CZ-5456-01A-01D-1501-10		379925	134626591	42	32072											
SCUBE2	57758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	9091015	9091015	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr11:9091015T>A	ENST00000309263.3	-	5	617	c.545A>T	c.(544-546)cAc>cTc	p.H182L	SCUBE2_ENST00000457346.2_Missense_Mutation_p.H182L|SCUBE2_ENST00000450649.2_Missense_Mutation_p.H182L|SCUBE2_ENST00000520467.1_Missense_Mutation_p.H182L			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	182	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.H182L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ACTACAGCCGTGATCCTTATT	0.577																																																1	Substitution - Missense(1)	kidney(1)											122	108	113					11																	9091015		2201	4296	6497	SO:0001583	missense	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.545A>T	11.37:g.9091015T>A	ENSP00000310658:p.His182Leu		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	T	29.1	4.977091	0.92982	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	4.79	4.79	0.61399	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.92280	0.7551	M	0.82630	2.6	0.80722	D	1	B;P;D	0.69078	0.357;0.635;0.997	B;P;P	0.60173	0.316;0.495;0.87	D	0.92126	0.5708	10	0.38643	T	0.18	.	14.6129	0.68529	0.0:0.0:0.0:1.0	.	182;182;182	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	L	182	ENSP00000390481:H182L;ENSP00000310658:H182L;ENSP00000415187:H182L;ENSP00000429969:H182L	ENSP00000310658:H182L	H	-	2	0	SCUBE2	9047591	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.854000	0.86942	1.926000	0.55796	0.533000	0.62120	CAC		0.577	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		A	9091015	T	A	9091015	3	1	587	1	0	0	0	0	1	0	0	0	13951	1696	59	5	2617	5	SCUBE2	11	9091015	Missense_Mutation	SNP	T	TCGA-CZ-5456-01A-01D-1501-10	8711090	9091015	125915501	43	32073											
DENND5A	23258	broad.mit.edu;ucsc.edu	37	11	9161237	9161237	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr11:9161237A>G	ENST00000328194.3	-	23	4165	c.3845T>C	c.(3844-3846)gTc>gCc	p.V1282A	DENND5A_ENST00000527700.1_Missense_Mutation_p.V625A|DENND5A_ENST00000530044.1_3'UTR|SCUBE2_ENST00000534295.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1282	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V1282A(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GATGCCCTTGACAAGGGACGT	0.517																																																1	Substitution - Missense(1)	kidney(1)											131	89	103					11																	9161237		2201	4296	6497	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3845T>C	11.37:g.9161237A>G	ENSP00000328524:p.Val1282Ala		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.95|14.95	2.687555|2.687555	0.48097|0.48097	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000528725;ENST00000533737|ENST00000328194;ENST00000527700	.|T;T	.|0.18960	.|3.66;2.18	5.44|5.44	5.44|5.44	0.79542|0.79542	.|RUN (1);	.|0.111293	.|0.64402	.|D	.|0.000009	T|T	0.24699|0.24699	0.0599|0.0599	L|L	0.51422|0.51422	1.61|1.61	0.49687|0.49687	D|D	0.999812|0.999812	.|B	.|0.27316	.|0.175	.|B	.|0.31016	.|0.123	T|T	0.02713|0.02713	-1.1120|-1.1120	5|10	.|0.51188	.|T	.|0.08	.|.	15.4987|15.4987	0.75677|0.75677	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1282	.|Q6IQ26	.|DEN5A_HUMAN	P|A	181;190|1282;625	.|ENSP00000328524:V1282A;ENSP00000432549:V625A	.|ENSP00000328524:V1282A	S|V	-|-	1|2	0|0	DENND5A|DENND5A	9117813|9117813	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.980000|0.980000	0.70556|0.70556	7.576000|7.576000	0.82467|0.82467	2.064000|2.064000	0.61679|0.61679	0.460000|0.460000	0.39030|0.39030	TCA|GTC		0.517	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		G	9161237	A	G	9161237	3	3	587	1	0	0	0	0	1	0	0	0	4438	275	10	3	22	3	DENND5A	11	9161237	Missense_Mutation	SNP	A	TCGA-CZ-5456-01A-01D-1501-10	70222	9161237	125845279	44	32074											
CASP1	834	broad.mit.edu;hgsc.bcm.edu	37	11	104897592	104897592	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr11:104897592C>A	ENST00000533400.1	-	8	1128	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	CASP1_ENST00000531166.1_Missense_Mutation_p.D49Y|CASP1_ENST00000436863.3_Missense_Mutation_p.D365Y|CASP1_ENST00000527979.1_Missense_Mutation_p.D328Y|CASP1_ENST00000446369.1_Missense_Mutation_p.D224Y|CASP1_ENST00000415981.2_Missense_Mutation_p.D49Y|CASP1_ENST00000393136.4_Missense_Mutation_p.D344Y|CASP1_ENST00000534497.1_Missense_Mutation_p.D224Y|CASP1_ENST00000526568.1_Missense_Mutation_p.D272Y|CASP1_ENST00000593315.1_Missense_Mutation_p.D344Y|CASP1_ENST00000525825.1_Missense_Mutation_p.D344Y|CASP1_ENST00000598974.1_Missense_Mutation_p.D365Y|CASP1_ENST00000353247.5_Missense_Mutation_p.D49Y|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000594519.1_Missense_Mutation_p.D224Y	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	365					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.D365Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCCTCCACATCACAGGAACAG	0.403																																					NSCLC(41;1246 1743 4934)											1	Substitution - Missense(1)	kidney(1)											116	104	108					11																	104897592		2202	4299	6501	SO:0001583	missense	834			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1093G>T	11.37:g.104897592C>A	ENSP00000433138:p.Asp365Tyr		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883456	0.33255	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	T;T;T;T;T;T;T;T;T;T;T;T	0.52057	3.74;3.74;3.74;3.74;3.74;0.68;0.68;0.68;3.74;3.74;0.68;0.68	4.35	1.14	0.20703	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.420336	0.25264	N	0.031931	T	0.67059	0.2853	M	0.88979	2.995	0.35862	D	0.827552	D;D;D;P;P;D;P	0.89917	1.0;0.977;0.999;0.913;0.929;0.962;0.593	D;P;D;P;P;P;B	0.72338	0.977;0.742;0.973;0.541;0.757;0.733;0.323	T	0.72690	-0.4217	10	0.72032	D	0.01	.	7.2395	0.26088	0.0:0.4408:0.4587:0.1005	.	49;224;365;344;365;328;272	P29466-5;P29466-4;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	Y	214;272;328;365;365;49;224;49;344;344;49;224	ENSP00000435536:D214Y;ENSP00000434250:D272Y;ENSP00000432340:D328Y;ENSP00000433138:D365Y;ENSP00000410076:D365Y;ENSP00000408446:D49Y;ENSP00000403260:D224Y;ENSP00000344132:D49Y;ENSP00000376844:D344Y;ENSP00000434779:D344Y;ENSP00000434303:D49Y;ENSP00000436875:D224Y	ENSP00000344132:D49Y	D	-	1	0	CASP1	104402802	0.001000	0.12720	0.912000	0.35992	0.346000	0.29079	-0.143000	0.10296	0.551000	0.29008	0.460000	0.39030	GAT		0.403	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		A	104897592	C	A	104897592	3	1	587	1	0	0	0	0	1	0	0	0	2670	826	29	4	129	4	CASP1	11	104897592	Missense_Mutation	SNP	C	TCGA-CZ-5456-01A-01D-1501-10	95736355	104897592	30108924	45	32075											
CSDA	8531	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10854562	10854562	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr12:10854562T>A	ENST00000228251.4	-	8	1250	c.1050A>T	c.(1048-1050)aaA>aaT	p.K350N	YBX3_ENST00000279550.7_Missense_Mutation_p.K281N|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	350					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.K350N(1)									GATTTACCTCTTTGCCATCTT	0.507																																																1	Substitution - Missense(1)	kidney(1)											213	206	208					12																	10854562		2203	4300	6503	SO:0001583	missense	8531			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.1050A>T	12.37:g.10854562T>A	ENSP00000228251:p.Lys350Asn		B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055002	0.75960	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.29397	1.67;1.57	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	M	0.63843	1.955	0.47584	D	0.999468	D;D	0.76494	0.971;0.999	P;D	0.80764	0.624;0.994	T	0.46219	-0.9207	10	0.41790	T	0.15	.	11.8088	0.52171	0.0:0.0:0.0:1.0	.	281;350	P16989-2;P16989	.;DBPA_HUMAN	N	281;350	ENSP00000279550:K281N;ENSP00000228251:K350N	ENSP00000228251:K350N	K	-	3	2	CSDA	10745829	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.833000	0.39161	1.734000	0.51633	0.482000	0.46254	AAA		0.507	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		A	10854562	T	A	10854562	3	1	587	1	0	0	0	0	1	0	0	0	3929	1606	56	5	76	5	CSDA	12	10854562	Missense_Mutation	SNP	T	TCGA-CZ-5456-01A-01D-1501-10		10854562	122997333	46	32076											
CLYBL	171425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	100543598	100543598	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr13:100543598G>A	ENST00000376360.1	+	8	981	c.954G>A	c.(952-954)atG>atA	p.M318I	CLYBL_ENST00000376354.1_Missense_Mutation_p.M284I|CLYBL_ENST00000376355.3_Missense_Mutation_p.M284I|CLYBL_ENST00000339105.4_Missense_Mutation_p.M318I			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	318						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.M318I(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAGGGAGTATGATCGACATGC	0.443																																																1	Substitution - Missense(1)	kidney(1)											123	114	117					13																	100543598		2203	4300	6503	SO:0001583	missense	171425			AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.954G>A	13.37:g.100543598G>A	ENSP00000365538:p.Met318Ile		Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199974	0.79015	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000376354;ENST00000339105;ENST00000419700;ENST00000425186	T;T;T;T;T	0.58797	1.14;1.12;1.14;1.12;0.31	5.03	5.03	0.67393	.	0.037757	0.85682	D	0.000000	T	0.80829	0.4698	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.85118	0.0967	10	0.72032	D	0.01	-15.5319	18.7527	0.91821	0.0:0.0:1.0:0.0	.	318	Q8N0X4	CLYBL_HUMAN	I	284;318;284;318;81;67	ENSP00000365533:M284I;ENSP00000365538:M318I;ENSP00000365532:M284I;ENSP00000342991:M318I;ENSP00000396574:M81I	ENSP00000342991:M318I	M	+	3	0	CLYBL	99341599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.248000	0.95456	2.490000	0.84030	0.655000	0.94253	ATG		0.443	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			A	100543598	G	A	100543598	3	1	587	1	0	0	0	0	1	0	0	0	3575	1290	45	2	984	2	CLYBL	13	100543598	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10		100543598	14626280	47	32077											
COL4A2	1284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	111144511	111144511	+	Silent	SNP	T	T	C			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr13:111144511T>C	ENST00000360467.5	+	38	3855	c.3549T>C	c.(3547-3549)gcT>gcC	p.A1183A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1183	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.A1183A(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCCGGGAGCTCCGGGCTTAC	0.652																																																1	Substitution - coding silent(1)	kidney(1)											33	48	43					13																	111144511		1967	4077	6044	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3549T>C	13.37:g.111144511T>C			Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																				0.652	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		C	111144511	T	C	111144511	2	2	587	1	0	0	0	0	0	0	0	1	3692	1538	54	3		3	COL4A2	13	111144511	Silent	SNP	T	TCGA-CZ-5456-01A-01D-1501-10	10600913	111144511	4025367	48	32078											
CLMN	79789	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	95669872	95669872	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr14:95669872A>G	ENST00000298912.4	-	9	1927	c.1814T>C	c.(1813-1815)cTa>cCa	p.L605P		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	605					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.L605P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCTTTTACCTAGTTTTTCAGC	0.428																																																1	Substitution - Missense(1)	kidney(1)											67	64	65					14																	95669872		2203	4300	6503	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1814T>C	14.37:g.95669872A>G	ENSP00000298912:p.Leu605Pro		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	A	4.771	0.143275	0.09083	.	.	ENSG00000165959	ENST00000298912	D	0.93426	-3.22	5.26	-7.37	0.01412	.	2.101480	0.02711	N	0.112827	D	0.86552	0.5960	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.76356	-0.2989	10	0.42905	T	0.14	.	7.5314	0.27685	0.3849:0.2846:0.3305:0.0	.	605	Q96JQ2	CLMN_HUMAN	P	605	ENSP00000298912:L605P	ENSP00000298912:L605P	L	-	2	0	CLMN	94739625	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.340000	0.07821	-2.550000	0.00480	-3.590000	0.00028	CTA		0.428	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			G	95669872	A	G	95669872	3	3	587	1	0	0	0	0	1	0	0	0	3544	420	15	3	1214	3	CLMN	14	95669872	Missense_Mutation	SNP	A	TCGA-CZ-5456-01A-01D-1501-10		95669872	11679668	49	32079											
MTMR10	54893	broad.mit.edu;ucsc.edu	37	15	31260141	31260141	+	Missense_Mutation	SNP	T	T	C	rs185348229		TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr15:31260141T>C	ENST00000435680.1	-	6	644	c.547A>G	c.(547-549)Aaa>Gaa	p.K183E	MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000563714.1_Missense_Mutation_p.K101E|MTMR10_ENST00000425768.1_Intron	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	183							phosphatase activity (GO:0016791)	p.K183E(1)|p.K101E(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TGGTATTTTTTCCCAACATAT	0.328													T|||	1	0.000199681	0.0	0.0	5008	,	,		19223	0.0		0.001	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)											44	44	44					15																	31260141		1800	4076	5876	SO:0001583	missense	54893			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.547A>G	15.37:g.31260141T>C	ENSP00000402537:p.Lys183Glu		Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	10.04	1.240402	0.22711	.	.	ENSG00000166912	ENST00000435680;ENST00000340566	D	0.92858	-3.12	5.51	4.37	0.52481	.	0.181679	0.38897	N	0.001534	D	0.82300	0.5007	N	0.19112	0.55	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.11329	0.006;0.003	T	0.74300	-0.3710	10	0.18276	T	0.48	.	6.2043	0.20593	0.0:0.1225:0.1554:0.722	.	101;183	Q9NXD2-2;Q9NXD2	.;MTMRA_HUMAN	E	183;101	ENSP00000402537:K183E	ENSP00000340637:K101E	K	-	1	0	MTMR10	29047433	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.673000	0.37534	2.217000	0.71921	0.482000	0.46254	AAA		0.328	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		C	31260141	T	C	31260141	3	2	587	1	0	0	0	0	1	0	0	0	9941	1792	62	3	1830	3	MTMR10	15	31260141	Missense_Mutation	SNP	T	TCGA-CZ-5456-01A-01D-1501-10		31260141	71271251	50	32080											
PIF1	80119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65114788	65114788	+	Missense_Mutation	SNP	G	G	A	rs201996206		TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr15:65114788G>A	ENST00000268043.4	-	3	674	c.580C>T	c.(580-582)Cct>Tct	p.P194S	PIF1_ENST00000559239.1_Missense_Mutation_p.P194S|PIF1_ENST00000333425.6_Missense_Mutation_p.P194S					PIF1 5'-to-3' DNA helicase									p.P194S(2)		kidney(1)|lung(1)	2						CTCTTCACAGGCAGGGGCCAC	0.607																																																2	Substitution - Missense(2)	kidney(2)											38	38	38					15																	65114788		2202	4299	6501	SO:0001583	missense	80119			AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.580C>T	15.37:g.65114788G>A	ENSP00000268043:p.Pro194Ser			Missense_Mutation	SNP	ENST00000268043.4	37	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708494	0.48517	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.54479	0.57;0.57	4.53	4.53	0.55603	.	0.112678	0.56097	D	0.000021	T	0.56426	0.1984	L	0.54323	1.7	0.80722	D	1	D;P	0.57571	0.98;0.704	P;B	0.50617	0.646;0.296	T	0.53592	-0.8417	10	0.29301	T	0.29	-4.1718	15.1739	0.72896	0.0:0.0:1.0:0.0	.	194;194	Q9H611-2;Q9H611	.;PIF1_HUMAN	S	194	ENSP00000268043:P194S;ENSP00000328174:P194S	ENSP00000268043:P194S	P	-	1	0	PIF1	62901841	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.412000	0.44609	2.509000	0.84616	0.561000	0.74099	CCT		0.607	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		A	65114788	G	A	65114788	3	1	587	1	0	0	0	0	1	0	0	0	11885	1203	42	2	1389	2	PIF1	15	65114788	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	33854647	65114788	37416604	51	32081											
ACSBG1	23205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78485853	78485853	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr15:78485853delG	ENST00000258873.4	-	5	863	c.658delC	c.(658-660)ctgfs	p.L220fs	ACSBG1_ENST00000558828.1_5'Flank|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	220					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAAACCTTCAGGATCTTTTCC	0.577																																																0													111	109	110					15																	78485853		2196	4293	6489	SO:0001589	frameshift_variant	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.658delC	15.37:g.78485853delG	ENSP00000258873:p.Leu220fs		B2RB61|O75126|Q76N27|Q9HC26	Frame_Shift_Del	DEL	ENST00000258873.4	37	CCDS10298.1																																																																																				0.577	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		-	78485853	G	-	78485853	7	5	587	1	0	1	0	1	0	0	0	0	173	991	35	0	1556	0	ACSBG1	15	78485853	Frame_Shift_Del	DEL	G	TCGA-CZ-5456-01A-01D-1501-10	13371065	78485853	24045539	52	32082											
ARNT2	9915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	80762712	80762712	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr15:80762712G>T	ENST00000303329.4	+	4	513	c.348G>T	c.(346-348)atG>atT	p.M116I	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000533983.1_Missense_Mutation_p.M105I|ARNT2_ENST00000527771.1_Missense_Mutation_p.M105I	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	116	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.M116I(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGAAGTCCATGAGGGGTACAG	0.592																																																1	Substitution - Missense(1)	kidney(1)											108	81	90					15																	80762712		2203	4300	6503	SO:0001583	missense	9915			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.348G>T	15.37:g.80762712G>T	ENSP00000307479:p.Met116Ile		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598544	0.66332	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	D	0.97870	-4.58	5.0	5.0	0.66597	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	N	0.02315	-0.6	0.80722	D	1	B;B	0.18968	0.032;0.002	B;B	0.18263	0.021;0.017	D	0.88044	0.2783	10	0.44086	T	0.13	.	18.4737	0.90783	0.0:0.0:1.0:0.0	.	116;116	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	I	105;116;116	ENSP00000307479:M116I	ENSP00000307479:M116I	M	+	3	0	ARNT2	78549767	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	6.089000	0.71384	2.597000	0.87782	0.650000	0.86243	ATG		0.592	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			T	80762712	G	T	80762712	3	4	587	1	0	0	0	0	1	0	0	0	966	1290	45	4	362	4	ARNT2	15	80762712	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	2276859	80762712	21768680	53	32083											
PARN	5073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	14711480	14711480	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr16:14711480G>A	ENST00000437198.2	-	6	496	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	PARN_ENST00000420015.2_Nonsense_Mutation_p.Q73*|PARN_ENST00000341484.7_Nonsense_Mutation_p.Q58*|PARN_ENST00000566021.1_Intron|PARN_ENST00000539279.1_Intron	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	119					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.Q119*(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TCAAATCCCTGGCTTGCTAGA	0.368																																																2	Substitution - Nonsense(2)	kidney(2)											68	65	66					16																	14711480		1829	4086	5915	SO:0001587	stop_gained	5073			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.355C>T	16.37:g.14711480G>A	ENSP00000387911:p.Gln119*		B2RCB3|B4DDG8|B4DWR4|B4E1H6	Nonsense_Mutation	SNP	ENST00000437198.2	37	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	G	39	7.386878	0.98252	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000538472	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.7619	19.3813	0.94536	0.0:0.0:1.0:0.0	.	.	.	.	X	119;58;73;102	.	ENSP00000345456:Q58X	Q	-	1	0	PARN	14618981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.465000	0.90383	2.824000	0.97209	0.655000	0.94253	CAG		0.368	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		A	14711480	G	A	14711480	4	1	587	1	0	0	0	0	0	1	0	0	11455	1357	47	2	1640	2	PARN	16	14711480	Nonsense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10		14711480	75643273	54	32084											
ZNF688	146542	broad.mit.edu	37	16	30581350	30581351	+	Frame_Shift_Ins	INS	-	-	C	rs528760504		TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr16:30581350_30581351insC	ENST00000223459.6	-	3	1821_1822	c.717_718insG	c.(715-720)gggcggfs	p.R240fs	AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000395219.1_Frame_Shift_Ins_p.R226fs	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CGGCCCCGCCGCCCCCCGGAGC	0.708																																																0																																										SO:0001589	frameshift_variant	146542			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.718dupG	16.37:g.30581356_30581356dupC	ENSP00000223459:p.Arg240fs		A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Frame_Shift_Ins	INS	ENST00000223459.6	37	CCDS10684.1																																																																																				0.708	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		C	30581351	-	C	30581350	7	5	587	1	0	1	1	0	0	0	0	0	18098	1086	38	0	116	0	ZNF688	16	30581350	Frame_Shift_Ins	INS	-	TCGA-CZ-5456-01A-01D-1501-10	15869870	30581350	59773403	55	32085											
SAFB2	9667	broad.mit.edu;ucsc.edu	37	19	5613494	5613494	+	Silent	SNP	C	C	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr19:5613494C>T	ENST00000252542.4	-	5	852	c.588G>A	c.(586-588)ttG>ttA	p.L196L	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L196L(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTTTGAAGTTCAACGATGAAG	0.418																																					Ovarian(127;888 1728 23957 44128 52668)											1	Substitution - coding silent(1)	kidney(1)											139	114	122					19																	5613494		2203	4300	6503	SO:0001819	synonymous_variant	9667			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.588G>A	19.37:g.5613494C>T			B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	CCDS32879.1																																																																																				0.418	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		T	5613494	C	T	5613494	2	4	587	1	0	0	0	0	0	0	0	1	13813	825	29	2		2	SAFB2	19	5613494	Silent	SNP	C	TCGA-CZ-5456-01A-01D-1501-10		5613494	53515489	56	32086											
COL5A3	50509	broad.mit.edu;hgsc.bcm.edu	37	19	10087919	10087919	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr19:10087919C>T	ENST00000264828.3	-	44	3359	c.3274G>A	c.(3274-3276)Gat>Aat	p.D1092N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1092	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.D1092N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCCTTTATCGCCTTTACTC	0.607																																																1	Substitution - Missense(1)	kidney(1)											139	89	106					19																	10087919		2203	4300	6503	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3274G>A	19.37:g.10087919C>T	ENSP00000264828:p.Asp1092Asn		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779527	0.31502	.	.	ENSG00000080573	ENST00000264828	D	0.94184	-3.37	5.32	5.32	0.75619	.	0.138983	0.45867	D	0.000329	D	0.89605	0.6763	L	0.43701	1.375	0.50467	D	0.999871	P	0.48162	0.906	B	0.39706	0.307	D	0.88134	0.2840	10	0.20519	T	0.43	.	16.4842	0.84180	0.0:1.0:0.0:0.0	.	1092	P25940	CO5A3_HUMAN	N	1092	ENSP00000264828:D1092N	ENSP00000264828:D1092N	D	-	1	0	COL5A3	9948919	0.999000	0.42202	0.876000	0.34364	0.093000	0.18481	4.230000	0.58632	2.486000	0.83907	0.467000	0.42956	GAT		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10087919	C	T	10087919	3	4	587	1	0	0	0	0	1	0	0	0	3700	884	31	1	2059	1	COL5A3	19	10087919	Missense_Mutation	SNP	C	TCGA-CZ-5456-01A-01D-1501-10	4474425	10087919	49041064	57	32087											
MRPL4	51073	broad.mit.edu;ucsc.edu	37	19	10370469	10370469	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr19:10370469G>T	ENST00000253099.6	+	9	1203	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S	MRPL4_ENST00000393733.2_3'UTR|CTD-2369P2.4_ENST00000587088.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Missense_Mutation_p.A306S	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	306					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A306S(1)|p.A306fs>4(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGGCCCAGCGGCCACCCCGTA	0.667																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|kidney(1)											51	51	51					19																	10370469		2203	4300	6503	SO:0001583	missense	51073			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"Mitochondrial ribosomal proteins / large subunits"	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.916G>T	19.37:g.10370469G>T	ENSP00000253099:p.Ala306Ser		A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	ENST00000253099.6	37	CCDS12230.1	.	.	.	.	.	.	.	.	.	.	g	11.21	1.571839	0.28003	.	.	ENSG00000105364	ENST00000253099;ENST00000307422	.	.	.	3.13	0.805	0.18703	.	.	.	.	.	T	0.17023	0.0409	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20472	-1.0274	8	0.87932	D	0	.	4.1345	0.10164	0.1345:0.0:0.6137:0.2518	.	306	Q9BYD3	RM04_HUMAN	S	306	.	ENSP00000253099:A306S	A	+	1	0	MRPL4	10231469	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.127000	0.15790	0.115000	0.18071	-0.422000	0.05995	GCC		0.667	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			T	10370469	G	T	10370469	3	4	587	1	0	0	0	0	1	0	0	0	9805	1203	42	4	1003	4	MRPL4	19	10370469	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	282550	10370469	48758514	58	32088											
MLL4	9757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36221724	36221724	+	Missense_Mutation	SNP	C	C	G	rs540366889		TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr19:36221724C>G	ENST00000222270.7	+	26	5393	c.5393C>G	c.(5392-5394)gCa>gGa	p.A1798G	KMT2B_ENST00000420124.1_Missense_Mutation_p.A1798G|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1798					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A1800G(1)									CTGGAGGCTGCAGAGGAGAAC	0.592																																																1	Substitution - Missense(1)	kidney(1)											38	45	43					19																	36221724		2076	4200	6276	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5393C>G	19.37:g.36221724C>G	ENSP00000222270:p.Ala1798Gly		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985816	0.35036	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83506	-1.73;-1.73	5.79	4.76	0.60689	.	0.000000	0.44483	D	0.000441	T	0.73063	0.3539	L	0.47716	1.5	0.09310	N	0.999998	B	0.25441	0.126	B	0.16289	0.015	T	0.55630	-0.8111	10	0.16420	T	0.52	.	8.928	0.35652	0.0:0.769:0.1515:0.0795	.	1798	Q9UMN6	MLL4_HUMAN	G	1798	ENSP00000222270:A1798G;ENSP00000398837:A1798G	ENSP00000222270:A1798G	A	+	2	0	AD000671.1	40913564	0.110000	0.22057	0.181000	0.23098	0.818000	0.46254	0.474000	0.22148	2.735000	0.93741	0.655000	0.94253	GCA		0.592	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		G	36221724	C	G	36221724	3	3	587	1	0	0	0	0	1	0	0	0	9625	710	25	4	5495	4	MLL4	19	36221724	Missense_Mutation	SNP	C	TCGA-CZ-5456-01A-01D-1501-10	25851255	36221724	22907259	59	32089											
ZNF331	55422	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54080261	54080261	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr19:54080261T>G	ENST00000253144.9	+	7	1780	c.447T>G	c.(445-447)caT>caG	p.H149Q	ZNF331_ENST00000511593.2_Missense_Mutation_p.H149Q|ZNF331_ENST00000411977.2_Missense_Mutation_p.H149Q|ZNF331_ENST00000512387.1_Missense_Mutation_p.H149Q|ZNF331_ENST00000449416.1_Missense_Mutation_p.H149Q|ZNF331_ENST00000513999.1_Missense_Mutation_p.H149Q|ZNF331_ENST00000511154.1_Missense_Mutation_p.H149Q|ZNF331_ENST00000513265.1_Intron	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H149Q(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TTAGTCAACATCAGAAAATCC	0.413			T	?	follicular thyroid adenoma																																		Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	1	Substitution - Missense(1)	kidney(1)											98	104	102					19																	54080261		2203	4300	6503	SO:0001583	missense	55422			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.447T>G	19.37:g.54080261T>G	ENSP00000253144:p.His149Gln		Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945267	0.53079	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387;ENST00000514022;ENST00000505949	D;D;D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	3.68	0.303	0.15791	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35903	N	0.002920	D	0.94364	0.8188	H	0.97214	3.96	0.24470	N	0.994396	D	0.89917	1.0	D	0.77557	0.99	D	0.86899	0.2053	10	0.87932	D	0	.	6.7817	0.23650	0.0:0.3291:0.0:0.6709	.	149	Q9NQX6	ZN331_HUMAN	Q	149	ENSP00000253144:H149Q;ENSP00000427439:H149Q;ENSP00000393817:H149Q;ENSP00000393336:H149Q;ENSP00000421014:H149Q;ENSP00000423156:H149Q;ENSP00000421728:H149Q;ENSP00000422471:H149Q;ENSP00000427532:H149Q	ENSP00000253144:H149Q	H	+	3	2	ZNF331	58772073	0.013000	0.17824	0.926000	0.36857	0.940000	0.58332	0.055000	0.14229	-0.115000	0.11915	0.460000	0.39030	CAT		0.413	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		G	54080261	T	G	54080261	3	3	587	1	0	0	0	0	1	0	0	0	17854	1432	50	5	457	5	ZNF331	19	54080261	Missense_Mutation	SNP	T	TCGA-CZ-5456-01A-01D-1501-10	17858537	54080261	5048722	60	32090											
ZNF805	390980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57752278	57752278	+	Missense_Mutation	SNP	G	G	T	rs533627612		TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr19:57752278G>T	ENST00000414468.2	+	1	19	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	ZNF805_ENST00000535550.1_5'UTR|ZNF805_ENST00000354309.4_5'UTR	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D7Y(1)		breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GGCTTTGACGGACCCGGCGCA	0.682																																																1	Substitution - Missense(1)	kidney(1)											49	52	51					19																	57752278		692	1591	2283	SO:0001583	missense	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.19G>T	19.37:g.57752278G>T	ENSP00000412999:p.Asp7Tyr		B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771374	0.31320	.	.	ENSG00000204524	ENST00000414468	T	0.05580	3.42	3.2	2.16	0.27623	Krueppel-associated box (1);	.	.	.	.	T	0.06690	0.0171	L	0.38838	1.175	0.31184	N	0.701676	P	0.50943	0.94	P	0.44990	0.466	T	0.19063	-1.0317	9	0.56958	D	0.05	.	6.376	0.21507	0.1379:0.0:0.8621:0.0	.	7	Q5CZA5	ZN805_HUMAN	Y	7	ENSP00000412999:D7Y	ENSP00000412999:D7Y	D	+	1	0	ZNF805	62444090	0.570000	0.26651	0.100000	0.21137	0.016000	0.09150	1.044000	0.30329	0.907000	0.36646	0.655000	0.94253	GAC		0.682	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		T	57752278	G	T	57752278	3	4	587	1	0	0	0	0	1	0	0	0	18177	1174	41	4	21	4	ZNF805	19	57752278	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	3672017	57752278	1376705	61	32091											
DEFB126	81623	hgsc.bcm.edu	37	20	126314	126314	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr20:126314C>G	ENST00000382398.3	+	2	577	c.317C>G	c.(316-318)cCc>cGc	p.P106R	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	106					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCTCCTACCCCCGTTTCTCCC	0.458																																																0													108	109	109					20																	126314		2203	4300	6503	SO:0001583	missense	81623				CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"Defensins, beta"	15900	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 8"	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.317C>G	20.37:g.126314C>G	ENSP00000371835:p.Pro106Arg		Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	C	5.857	0.342300	0.11069	.	.	ENSG00000125788	ENST00000382398	T	0.40225	1.04	1.54	0.534	0.17127	.	.	.	.	.	T	0.23370	0.0565	N	0.19112	0.55	0.09310	N	1	B	0.26195	0.144	B	0.13407	0.009	T	0.14980	-1.0453	9	0.44086	T	0.13	0.0422	5.6779	0.17759	0.0:0.655:0.345:0.0	.	106	Q9BYW3	DB126_HUMAN	R	106	ENSP00000371835:P106R	ENSP00000371835:P106R	P	+	2	0	DEFB126	74314	0.000000	0.05858	0.011000	0.14972	0.008000	0.06430	0.034000	0.13776	0.202000	0.20498	-0.264000	0.10439	CCC		0.458	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		G	126314	C	G	126314	3	3	587	1	0	0	0	0	1	0	0	0	4414	623	22	4	323	4	DEFB126	20	126314	Missense_Mutation	SNP	C	TCGA-CZ-5456-01A-01D-1501-10		126314	62899206	62	32092											
SLCO4A1	28231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	61299368	61299368	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr20:61299368A>T	ENST00000370507.1	+	8	1739	c.1643A>T	c.(1642-1644)tAc>tTc	p.Y548F	SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.Y548F|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	548	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Y548F(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCCCAGGTGTACCGAGACTGT	0.582																																					Pancreas(168;741 2006 10379 40139 45334)											1	Substitution - Missense(1)	kidney(1)											179	171	174					20																	61299368		2203	4300	6503	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1643A>T	20.37:g.61299368A>T	ENSP00000359538:p.Tyr548Phe		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793673	0.50102	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.04119	3.7;3.7	4.97	4.97	0.65823	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.140112	0.49305	D	0.000147	T	0.06462	0.0166	L	0.46885	1.475	0.51012	D	0.999907	B	0.14805	0.011	B	0.23574	0.047	T	0.30707	-0.9969	10	0.15952	T	0.53	.	14.6308	0.68655	1.0:0.0:0.0:0.0	.	548	Q96BD0	SO4A1_HUMAN	F	548;548;548;400	ENSP00000217159:Y548F;ENSP00000359538:Y548F	ENSP00000217159:Y548F	Y	+	2	0	SLCO4A1	60769813	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.018000	0.49625	1.850000	0.53721	0.482000	0.46254	TAC		0.582	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		T	61299368	A	T	61299368	3	4	587	1	0	0	0	0	1	0	0	0	14735	391	14	5	1673	5	SLCO4A1	20	61299368	Missense_Mutation	SNP	A	TCGA-CZ-5456-01A-01D-1501-10	61173054	61299368	1726152	63	32093											
KRTAP19-8	728299	hgsc.bcm.edu	37	21	32410670	32410671	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr21:32410670_32410671insC	ENST00000382822.2	-	1	124_125	c.92_93insG	c.(91-93)agcfs	p.S31fs		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	31						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						ACCTGCGGAAGCTGCCATAGCC	0.535																																																0																																										SO:0001589	frameshift_variant	728299			AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"Keratin associated proteins"	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.93dupG	21.37:g.32410671_32410671dupC	ENSP00000372272:p.Ser31fs			Frame_Shift_Ins	INS	ENST00000382822.2	37	CCDS42917.1																																																																																				0.535	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000128239.3	NM_001099219		C	32410671	-	C	32410670	7	5	587	1	0	1	1	0	0	0	0	0	8537	962	34	0	102	0	KRTAP19-8	21	32410670	Frame_Shift_Ins	INS	-	TCGA-CZ-5456-01A-01D-1501-10		32410670	15719225	64	32094											
NEFH	4744	hgsc.bcm.edu	37	22	29885577	29885578	+	In_Frame_Ins	INS	-	-	AGAAGGCCAAGTCCCCTG			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chr22:29885577_29885578insAGAAGGCCAAGTCCCCTG	ENST00000310624.6	+	4	1981_1982	c.1948_1949insAGAAGGCCAAGTCCCCTG	c.(1948-1950)gag>gAGAAGGCCAAGTCCCCTGag	p.650_650E>EKAKSPE		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	656	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAAGTCCCCTGAGAAGGCCAAG	0.564																																																0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	Exception_encountered	22.37:g.29885577_29885578insAGAAGGCCAAGTCCCCTG	Exception_encountered		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.564	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		AGAAGGCCAAGTCCCCTG	29885578	-	AGAAGGCCAAGTCCCCTG	29885577	7	5	587	1	0	1	1	0	0	0	0	0	10316	1291	45	0	1962	0	NEFH	22	29885577	In_Frame_Ins	INS	-	TCGA-CZ-5456-01A-01D-1501-10		29885577	21418989	65	32095											
DDX3X	1654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	41203543	41203544	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chrX:41203543_41203544insT	ENST00000399959.2	+	10	1771_1772	c.916_917insT	c.(916-918)attfs	p.I306fs	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Ins_p.I290fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	306	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGGTGCCGATATTGGTCAGCAG	0.406										HNSCC(61;0.18)																																						0																																										SO:0001589	frameshift_variant	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.918dupT	X.37:g.41203545_41203545dupT	ENSP00000382840:p.Ile306fs		A8K538|B4E3E8|O15536	Frame_Shift_Ins	INS	ENST00000399959.2	37	CCDS43931.1																																																																																				0.406	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		T	41203544	-	T	41203543	7	5	587	1	0	1	1	0	0	0	0	0	4360	449	16	0	954	0	DDX3X	23	41203543	Frame_Shift_Ins	INS	-	TCGA-CZ-5456-01A-01D-1501-10		41203543	114067017	66	32096											
SLC7A3	84889	broad.mit.edu;ucsc.edu	37	X	70147708	70147708	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chrX:70147708A>C	ENST00000374299.3	-	6	1127	c.983T>G	c.(982-984)aTt>aGt	p.I328S	SLC7A3_ENST00000298085.4_Missense_Mutation_p.I328S			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	328					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.I328S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCCCATCCAATGTAGAGAAA	0.493																																																1	Substitution - Missense(1)	kidney(1)											66	54	58					X																	70147708		2202	4297	6499	SO:0001583	missense	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.983T>G	X.37:g.70147708A>C	ENSP00000363417:p.Ile328Ser		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	A	9.804	1.181433	0.21787	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89617	-2.54;-2.54	5.15	-1.89	0.07689	Amino acid permease domain (1);	0.555395	0.19643	N	0.109416	D	0.84772	0.5546	M	0.63169	1.94	0.09310	N	1	B	0.12630	0.006	B	0.32149	0.141	T	0.74399	-0.3678	10	0.51188	T	0.08	.	5.0068	0.14291	0.4985:0.2645:0.237:0.0	.	328	Q8WY07	CTR3_HUMAN	S	328	ENSP00000363417:I328S;ENSP00000298085:I328S	ENSP00000298085:I328S	I	-	2	0	SLC7A3	70064433	0.571000	0.26659	0.000000	0.03702	0.724000	0.41520	4.225000	0.58600	-0.667000	0.05303	-1.639000	0.00775	ATT		0.493	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		C	70147708	A	C	70147708	3	2	587	1	0	0	0	0	1	0	0	0	14704	101	4	5	904	5	SLC7A3	23	70147708	Missense_Mutation	SNP	A	TCGA-CZ-5456-01A-01D-1501-10	28944165	70147708	85122852	67	32097											
RAB33A	9363	broad.mit.edu;hgsc.bcm.edu	37	X	129306194	129306194	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chrX:129306194C>T	ENST00000257017.4	+	1	572	c.158C>T	c.(157-159)aCc>aTc	p.T53I		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	53					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T53I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						ACCTGCCTGACCTTCCGCTTC	0.572																																																1	Substitution - Missense(1)	kidney(1)											93	73	80					X																	129306194		2203	4300	6503	SO:0001583	missense	9363			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.158C>T	X.37:g.129306194C>T	ENSP00000257017:p.Thr53Ile		Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738447	0.89573	.	.	ENSG00000134594	ENST00000257017	T	0.76186	-1.0	4.59	4.59	0.56863	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	N	0.00808	-1.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82061	-0.0644	10	0.72032	D	0.01	-14.3675	16.9479	0.86235	0.0:1.0:0.0:0.0	.	53	Q14088	RB33A_HUMAN	I	53	ENSP00000257017:T53I	ENSP00000257017:T53I	T	+	2	0	RAB33A	129133875	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.738000	0.55067	2.266000	0.75297	0.600000	0.82982	ACC		0.572	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		T	129306194	C	T	129306194	3	4	587	1	0	0	0	0	1	0	0	0	12928	507	18	2	160	2	RAB33A	23	129306194	Missense_Mutation	SNP	C	TCGA-CZ-5456-01A-01D-1501-10	59158486	129306194	25964366	68	32098											
PASD1	139135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	150842545	150842545	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5456-01A-01D-1501-10	TCGA-CZ-5456-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d5c746-60e3-4531-8db0-fd648811d45f	fe4271a8-7eda-4760-b5fb-c3f160edde4a	g.chrX:150842545G>T	ENST00000370357.4	+	15	2307	c.2062G>T	c.(2062-2064)Gat>Tat	p.D688Y		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	688						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.D688Y(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCCACAGGATTACATCCG	0.498																																																2	Substitution - Missense(2)	kidney(2)											127	117	121					X																	150842545		2203	4300	6503	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2062G>T	X.37:g.150842545G>T	ENSP00000359382:p.Asp688Tyr		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661900	0.29515	.	.	ENSG00000166049	ENST00000370357	T	0.53206	0.63	3.37	1.59	0.23543	.	.	.	.	.	T	0.49081	0.1536	L	0.27053	0.805	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.30208	-0.9986	9	0.87932	D	0	-12.8714	5.0366	0.14438	0.289:0.0:0.711:0.0	.	688	Q8IV76	PASD1_HUMAN	Y	688	ENSP00000359382:D688Y	ENSP00000359382:D688Y	D	+	1	0	PASD1	150593201	0.001000	0.12720	0.003000	0.11579	0.004000	0.04260	0.699000	0.25586	0.290000	0.22444	-0.192000	0.12808	GAT		0.498	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		T	150842545	G	T	150842545	3	4	587	1	0	0	0	0	1	0	0	0	11473	1174	41	4	2116	4	PASD1	23	150842545	Missense_Mutation	SNP	G	TCGA-CZ-5456-01A-01D-1501-10	21536351	150842545	4428015	69	32099											
WDR8	49856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	3564112	3564112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:3564112G>A	ENST00000270708.7	-	2	155	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	WRAP73_ENST00000378322.3_Nonsense_Mutation_p.Q28*	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	28						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Q28*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AACCGGTACTGGACACAGGAA	0.537																																																1	Substitution - Nonsense(1)	kidney(1)											84	76	79					1																	3564112		2203	4300	6503	SO:0001587	stop_gained	0			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.82C>T	1.37:g.3564112G>A	ENSP00000270708:p.Gln28*		Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Nonsense_Mutation	SNP	ENST00000270708.7	37	CCDS48.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056703	0.93793	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367;ENST00000419924	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-38.0353	17.5332	0.87819	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000270708:Q28X	Q	-	1	0	WRAP73	3553972	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.681000	0.84073	2.410000	0.81850	0.655000	0.94253	CAG		0.537	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			A	3564112	G	A	3564112	4	1	588	1	0	0	0	0	0	1	0	0	17334	1357	47	2	1344	2	WDR8	1	3564112	Nonsense_Mutation	SNP	G	TCGA-CZ-5457-01A-01D-1501-10		3564112	245686509	1	32100											
DNAJC11	55735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	6704634	6704634	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:6704634C>T	ENST00000377577.5	-	10	1204	c.1081G>A	c.(1081-1083)Gtt>Att	p.V361I	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Missense_Mutation_p.V361I|DNAJC11_ENST00000377573.5_Missense_Mutation_p.V271I|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Missense_Mutation_p.V323I	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	361						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.V361I(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TTGAGAGAAACACCCTGTGGA	0.512																																																1	Substitution - Missense(1)	kidney(1)											86	79	81					1																	6704634		2203	4300	6503	SO:0001583	missense	55735			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1081G>A	1.37:g.6704634C>T	ENSP00000366800:p.Val361Ile		Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	CCDS87.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229161	0.58777	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.28454	2.31;2.36;1.98;1.61	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	L	0.46947	1.48	0.80722	D	1	B;B;B	0.30727	0.016;0.29;0.292	B;B;B	0.34418	0.02;0.182;0.166	T	0.04870	-1.0921	10	0.17369	T	0.5	-15.2857	17.5893	0.87991	0.0:1.0:0.0:0.0	.	271;361;361	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	I	361;361;323;271	ENSP00000366800:V361I;ENSP00000294401:V361I;ENSP00000444020:V323I;ENSP00000366796:V271I	ENSP00000294401:V361I	V	-	1	0	DNAJC11	6627221	1.000000	0.71417	0.984000	0.44739	0.874000	0.50279	7.081000	0.76844	2.624000	0.88883	0.585000	0.79938	GTT		0.512	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		T	6704634	C	T	6704634	3	4	588	1	0	0	0	0	1	0	0	0	4632	478	17	2	626	2	DNAJC11	1	6704634	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	3140522	6704634	242545987	2	32101											
UBXN11	91544	broad.mit.edu	37	1	26608890	26608891	+	Frame_Shift_Del	DEL	CC	CC	-	rs376181141		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:26608890_26608891delCC	ENST00000374222.1	-	16	1926_1927	c.1462_1463delGG	c.(1462-1464)ggtfs	p.G488fs	UBXN11_ENST00000314675.7_Frame_Shift_Del_p.G368fs|UBXN11_ENST00000374217.2_Frame_Shift_Del_p.G455fs|UBXN11_ENST00000357089.4_Frame_Shift_Del_p.G455fs|UBXN11_ENST00000374221.3_Frame_Shift_Del_p.G488fs|UBXN11_ENST00000374223.1_Frame_Shift_Del_p.G245fs			Q5T124	UBX11_HUMAN	UBX domain protein 11	488	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggaccgggaccgggacaggga	0.713																																																0																																										SO:0001589	frameshift_variant	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1462_1463delGG	1.37:g.26608890_26608891delCC	ENSP00000363339:p.Gly488fs		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Frame_Shift_Del	DEL	ENST00000374222.1	37	CCDS41288.1																																																																																				0.713	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		-	26608891	CC	-	26608890	7	5	588	1	0	1	0	1	0	0	0	0	16918	507	18	0	103	0	UBXN11	1	26608890	Frame_Shift_Del	DEL	CC	TCGA-CZ-5457-01A-01D-1501-10	19904256	26608890	222641731	3	32102	240	2									
UBXN11	91544	broad.mit.edu	37	1	26608893	26608896	+	Frame_Shift_Del	DEL	GGAC	GGAC	-	rs72872911|rs367932248|rs534102934	byFrequency	TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	GGAC	GGAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:26608893_26608896delGGAC	ENST00000374222.1	-	16	1921_1924	c.1457_1460delGTCC	c.(1456-1461)tgtcccfs	p.CP486fs	UBXN11_ENST00000314675.7_Frame_Shift_Del_p.CP366fs|UBXN11_ENST00000374217.2_Frame_Shift_Del_p.CP453fs|UBXN11_ENST00000357089.4_Frame_Shift_Del_p.CP453fs|UBXN11_ENST00000374221.3_Frame_Shift_Del_p.CP486fs|UBXN11_ENST00000374223.1_Frame_Shift_Del_p.CP243fs			Q5T124	UBX11_HUMAN	UBX domain protein 11	486	Pro-rich.		C -> CPGPGPGPS. {ECO:0000269|PubMed:15498874}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						accgggaccgggacagggaccagg	0.716																																																0																																										SO:0001589	frameshift_variant	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1457_1460delGTCC	1.37:g.26608893_26608896delGGAC	ENSP00000363339:p.Cys486fs		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Frame_Shift_Del	DEL	ENST00000374222.1	37	CCDS41288.1																																																																																				0.716	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		-	26608896	GGAC	-	26608893	7	5	588	1	0	1	0	1	0	0	0	0	16918	1232	43	0	106	0	UBXN11	1	26608893	Frame_Shift_Del	DEL	GGAC	TCGA-CZ-5457-01A-01D-1501-10	3	26608893	222641728	4	32103	240	2									
DDX20	11218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	112308358	112308358	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:112308358G>A	ENST00000369702.4	+	11	1932		c.e11-1		DDX20_ENST00000475700.1_Splice_Site|DDX20_ENST00000536167.1_Splice_Site	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20						ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.?(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTTATGTAGATCCCATTCC	0.348																																																1	Unknown(1)	kidney(1)											111	116	114					1																	112308358		2203	4300	6503	SO:0001630	splice_region_variant	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1313-1G>A	1.37:g.112308358G>A			B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Splice_Site	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621029	0.46736	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9881	0.92780	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX20	112109881	1.000000	0.71417	0.998000	0.56505	0.589000	0.36550	7.891000	0.87319	2.669000	0.90835	0.655000	0.94253	.		0.348	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204	Intron	A	112308358	G	A	112308358	5	1	588	1	0	0	0	0	0	0	1	0	4350	956	33	2	1354	2	DDX20	1	112308358	Splice_Site	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	85699465	112308358	136942263	5	32104											
CELF3	11189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151688472	151688472	+	Silent	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:151688472G>A	ENST00000290583.4	-	1	818	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	RIIAD1_ENST00000326413.3_Intron|AL589765.1_ENST00000442233.2_Intron|CELF3_ENST00000290585.4_Silent_p.L9L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	9	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L9L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCCACAAACAGCTTGATGGCA	0.597																																																1	Substitution - coding silent(1)	kidney(1)											78	70	72					1																	151688472		2203	4300	6503	SO:0001819	synonymous_variant	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.25C>T	1.37:g.151688472G>A			B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1																																																																																				0.597	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		A	151688472	G	A	151688472	2	1	588	1	0	0	0	0	0	0	0	1	3219	962	34	2		2	CELF3	1	151688472	Silent	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	39380114	151688472	97562149	6	32105											
ILDR2	387597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	166944470	166944470	+	Silent	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:166944470G>A	ENST00000271417.3	-	1	91	c.36C>T	c.(34-36)ttC>ttT	p.F12F	ILDR2_ENST00000469934.2_Silent_p.F12F|ILDR2_ENST00000529071.1_Silent_p.F12F|ILDR2_ENST00000529387.1_Silent_p.F12F|ILDR2_ENST00000528703.1_Silent_p.F12F|ILDR2_ENST00000526687.1_Silent_p.F12F|ILDR2_ENST00000525740.1_Silent_p.F12F	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	12					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.F12F(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTGTTAGCCAGAAGAGAGAAA	0.498																																																1	Substitution - coding silent(1)	kidney(1)											122	113	116					1																	166944470		2203	4300	6503	SO:0001819	synonymous_variant	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.36C>T	1.37:g.166944470G>A				Silent	SNP	ENST00000271417.3	37	CCDS1256.1																																																																																				0.498	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		A	166944470	G	A	166944470	2	1	588	1	0	0	0	0	0	0	0	1	7712	933	33	2		2	ILDR2	1	166944470	Silent	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	15255998	166944470	82306151	7	32106											
DPT	1805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	168698362	168698362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:168698362C>T	ENST00000367817.3	-	1	140	c.51G>A	c.(49-51)tgG>tgA	p.W17*		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	17					cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.W17*(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CATACTGGCCCCAGGCCATGG	0.517																																																1	Substitution - Nonsense(1)	kidney(1)											51	45	47					1																	168698362		2203	4300	6503	SO:0001587	stop_gained	1805			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.51G>A	1.37:g.168698362C>T	ENSP00000356791:p.Trp17*		A8K981|Q8N4R2|Q9UIX8	Nonsense_Mutation	SNP	ENST00000367817.3	37	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	C	37	6.291522	0.97449	.	.	ENSG00000143196	ENST00000367817	.	.	.	5.08	5.08	0.68730	.	0.626869	0.16760	N	0.200657	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8304	18.0564	0.89365	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000356791:W17X	W	-	3	0	DPT	166964986	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.251000	0.65438	2.338000	0.79540	0.655000	0.94253	TGG		0.517	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		T	168698362	C	T	168698362	4	4	588	1	0	0	0	0	0	1	0	0	4741	624	22	2	570	2	DPT	1	168698362	Nonsense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	1753892	168698362	80552259	8	32107											
SLC9A11	284525	hgsc.bcm.edu	37	1	173517587	173517587	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:173517587delT	ENST00000367714.3	-	12	1824	c.1402delA	c.(1402-1404)attfs	p.I468fs	SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.I366fs|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	468					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTTGTCAAAATTTTTTCTGTT	0.363																																																0													128	128	128					1																	173517587		2203	4300	6503	SO:0001589	frameshift_variant	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1402delA	1.37:g.173517587delT	ENSP00000356687:p.Ile468fs		Q86UF3	Frame_Shift_Del	DEL	ENST00000367714.3	37	CCDS1308.1																																																																																				0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		-	173517587	T	-	173517587	7	5	588	1	0	1	0	1	0	0	0	0	14717	1493	52	0	2040	0	SLC9A11	1	173517587	Frame_Shift_Del	DEL	T	TCGA-CZ-5457-01A-01D-1501-10	4819225	173517587	75733034	9	32108											
KIF14	9928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200587322	200587322	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:200587322G>C	ENST00000367350.4	-	2	968	c.530C>G	c.(529-531)tCt>tGt	p.S177C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	177	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|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)|PDZ domain binding (GO:0030165)	p.S177C(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AGGTACAGAAGAGGCAACAAA	0.348																																																1	Substitution - Missense(1)	kidney(1)											104	107	106					1																	200587322		2203	4300	6503	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.530C>G	1.37:g.200587322G>C	ENSP00000356319:p.Ser177Cys		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345766	0.61073	.	.	ENSG00000118193	ENST00000367350	T	0.80393	-1.37	5.59	4.66	0.58398	.	0.100048	0.44902	N	0.000403	T	0.73753	0.3627	L	0.32530	0.975	0.09310	N	1	B	0.24533	0.105	B	0.22880	0.042	T	0.66752	-0.5844	10	0.66056	D	0.02	.	16.3812	0.83461	0.0:0.1319:0.8681:0.0	.	177	Q15058	KIF14_HUMAN	C	177	ENSP00000356319:S177C	ENSP00000356319:S177C	S	-	2	0	KIF14	198853945	0.606000	0.26949	0.003000	0.11579	0.046000	0.14306	4.385000	0.59613	1.317000	0.45149	0.591000	0.81541	TCT		0.348	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		C	200587322	G	C	200587322	3	2	588	1	0	0	0	0	1	0	0	0	8278	942	33	4	4532	4	KIF14	1	200587322	Missense_Mutation	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	27069735	200587322	48663299	10	32109											
REN	5972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204128614	204128614	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:204128614T>A	ENST00000272190.8	-	5	630	c.602A>T	c.(601-603)cAg>cTg	p.Q201L	REN_ENST00000367195.2_Missense_Mutation_p.Q201L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	201					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)	p.Q201L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GCCAATGGCCTGTTCAATGAA	0.537																																																1	Substitution - Missense(1)	kidney(1)											143	125	131					1																	204128614		2203	4300	6503	SO:0001583	missense	5972			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.602A>T	1.37:g.204128614T>A	ENSP00000272190:p.Gln201Leu		Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.538424	0.00942	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.51574	0.7;0.7	5.22	4.08	0.47627	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.399972	0.28859	N	0.013913	T	0.27489	0.0675	N	0.11000	0.08	0.44309	D	0.997189	B	0.06786	0.001	B	0.09377	0.004	T	0.04400	-1.0954	10	0.44086	T	0.13	.	9.2954	0.37813	0.2877:0.0:0.0:0.7123	.	201	P00797	RENI_HUMAN	L	201;120;201	ENSP00000356163:Q201L;ENSP00000272190:Q201L	ENSP00000272190:Q201L	Q	-	2	0	REN	202395237	0.995000	0.38212	0.978000	0.43139	0.002000	0.02628	1.652000	0.37313	0.809000	0.34255	-0.714000	0.03626	CAG		0.537	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		A	204128614	T	A	204128614	3	1	588	1	0	0	0	0	1	0	0	0	13230	1580	55	5	642	5	REN	1	204128614	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	3541292	204128614	45122007	11	32110											
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	215955490	215955490	+	Missense_Mutation	SNP	C	C	T	rs375978706		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr1:215955490C>T	ENST00000307340.3	-	54	11020	c.10634G>A	c.(10633-10635)cGg>cAg	p.R3545Q	USH2A_ENST00000366943.2_Missense_Mutation_p.R3545Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3545	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R3545Q(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGATGTTCCCCGAAAACGTTC	0.383										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	0,4406		0,0,2203	88	85	86		10634	0	0	1		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	USH2A	NM_206933.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3545/5203	215955490	1,13005	2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10634G>A	1.37:g.215955490C>T	ENSP00000305941:p.Arg3545Gln		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137211	0.37728	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54279	0.58;0.58	5.63	0.0242	0.14140	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.381511	0.18301	N	0.145419	T	0.31888	0.0811	L	0.31664	0.95	0.26214	N	0.979259	B	0.23316	0.083	B	0.12156	0.007	T	0.11446	-1.0587	10	0.26408	T	0.33	.	5.2174	0.15350	0.0:0.4556:0.2519:0.2925	.	3545	O75445	USH2A_HUMAN	Q	3545	ENSP00000305941:R3545Q;ENSP00000355910:R3545Q	ENSP00000305941:R3545Q	R	-	2	0	USH2A	214022113	0.905000	0.30787	0.001000	0.08648	0.707000	0.40811	0.949000	0.29109	-0.164000	0.10927	0.557000	0.71058	CGG		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215955490	C	T	215955490	3	4	588	1	0	0	0	0	1	0	0	0	17041	652	23	1	5050	1	USH2A	1	215955490	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	11826876	215955490	33295131	12	32111											
PRKD3	23683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	37501595	37501595	+	Silent	SNP	A	A	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:37501595A>C	ENST00000379066.1	-	11	2382	c.1620T>G	c.(1618-1620)gtT>gtG	p.V540V	PRKD3_ENST00000234179.2_Silent_p.V540V			O94806	KPCD3_HUMAN	protein kinase D3	540					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.V540V(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GAGAAGTGCAAACACTTGCTT	0.448																																					Melanoma(80;621 1355 8613 11814 51767)											2	Substitution - coding silent(2)	kidney(2)											130	120	124					2																	37501595		2203	4300	6503	SO:0001819	synonymous_variant	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1620T>G	2.37:g.37501595A>C			D6W587|Q53TR7|Q8NEL8	Silent	SNP	ENST00000379066.1	37	CCDS1789.1																																																																																				0.448	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		C	37501595	A	C	37501595	2	2	588	1	0	0	0	0	0	0	0	1	12525	1	1	5		5	PRKD3	2	37501595	Silent	SNP	A	TCGA-CZ-5457-01A-01D-1501-10		37501595	205697778	13	32112											
FIGN	55137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	164468066	164468066	+	Silent	SNP	C	C	T	rs371120062		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:164468066C>T	ENST00000333129.3	-	3	590	c.276G>A	c.(274-276)tcG>tcA	p.S92S	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	92					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.S92S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATGGTGTGTCCGAATAGTTGC	0.468																																																1	Substitution - coding silent(1)	kidney(1)											182	167	172					2																	164468066		1904	4117	6021	SO:0001819	synonymous_variant	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.276G>A	2.37:g.164468066C>T			B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	CCDS2221.2																																																																																				0.468	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		T	164468066	C	T	164468066	2	4	588	1	0	0	0	0	0	0	0	1	5893	639	23	1		1	FIGN	2	164468066	Silent	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	126966471	164468066	78731307	14	32113											
NEUROD1	4760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	182542705	182542705	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:182542705T>C	ENST00000295108.3	-	2	1340	c.883A>G	c.(883-885)Aaa>Gaa	p.K295E	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	295					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.K295E(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCATAATTTTTCTCAAACTCG	0.557																																																1	Substitution - Missense(1)	kidney(1)											85	85	85					2																	182542705		2203	4300	6503	SO:0001583	missense	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.883A>G	2.37:g.182542705T>C	ENSP00000295108:p.Lys295Glu		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721232	0.68959	.	.	ENSG00000162992	ENST00000295108	D	0.97089	-4.24	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	M	0.76838	2.35	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	D	0.99201	1.0873	10	0.87932	D	0	2.0933	16.2108	0.82158	0.0:0.0:0.0:1.0	.	295	Q13562	NDF1_HUMAN	E	295	ENSP00000295108:K295E	ENSP00000295108:K295E	K	-	1	0	NEUROD1	182250950	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.299000	0.77371	0.528000	0.53228	AAA		0.557	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		C	182542705	T	C	182542705	3	2	588	1	0	0	0	0	1	0	0	0	10350	1792	62	3	191	3	NEUROD1	2	182542705	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	18074639	182542705	60656668	15	32114											
ADAM23	8745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	207413075	207413075	+	Silent	SNP	G	G	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:207413075G>T	ENST00000264377.3	+	8	1192	c.864G>T	c.(862-864)gtG>gtT	p.V288V	ADAM23_ENST00000374415.3_Silent_p.V288V|ADAM23_ENST00000374416.1_Silent_p.V288V	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	288					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V288V(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGAGAGCAGTGAATGTGAGTG	0.418																																					Melanoma(194;1127 2130 19620 24042 27855)											2	Substitution - coding silent(2)	kidney(2)											124	122	122					2																	207413075		2203	4300	6503	SO:0001819	synonymous_variant	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.864G>T	2.37:g.207413075G>T			A2RU59	Silent	SNP	ENST00000264377.3	37	CCDS2369.1																																																																																				0.418	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		T	207413075	G	T	207413075	2	4	588	1	0	0	0	0	0	0	0	1	245	1277	45	4		4	ADAM23	2	207413075	Silent	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	24870370	207413075	35786298	16	32115											
ERBB4	2066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	212576841	212576841	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:212576841A>T	ENST00000342788.4	-	9	1368	c.1058T>A	c.(1057-1059)aTt>aAt	p.I353N	ERBB4_ENST00000436443.1_Missense_Mutation_p.I353N|ERBB4_ENST00000402597.1_Missense_Mutation_p.I353N	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	353					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I353N(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GAATTTGTCAATGTTACTGGA	0.373										TSP Lung(8;0.080)																																						1	Substitution - Missense(1)	kidney(1)											106	98	101					2																	212576841		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1058T>A	2.37:g.212576841A>T	ENSP00000342235:p.Ile353Asn		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.378663|4.378663	0.82682|0.82682	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.47869|.	0.83;0.83;0.83|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.113955|.	0.64402|.	D|.	0.000005|.	D|D	0.84642|0.84642	0.5517|0.5517	M|M	0.92317|0.92317	3.295|3.295	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;0.996|.	D;D;D;D;P|.	0.97110|.	1.0;0.999;0.986;0.996;0.825|.	D|D	0.88652|0.88652	0.3183|0.3183	10|5	0.87932|.	D|.	0|.	.|.	14.7699|14.7699	0.69668|0.69668	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	353;353;212;353;353|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	N|M	353|353	ENSP00000342235:I353N;ENSP00000403204:I353N;ENSP00000385565:I353N|.	ENSP00000342235:I353N|.	I|L	-|-	2|1	0|2	ERBB4|ERBB4	212285086|212285086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.339000|9.339000	0.96797|0.96797	1.891000|1.891000	0.54761|0.54761	0.383000|0.383000	0.25322|0.25322	ATT|TTG		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		T	212576841	A	T	212576841	3	4	588	1	0	0	0	0	1	0	0	0	5211	101	4	5	2948	5	ERBB4	2	212576841	Missense_Mutation	SNP	A	TCGA-CZ-5457-01A-01D-1501-10	5163766	212576841	30622532	17	32116											
SPEG	10290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220333895	220333895	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:220333895T>G	ENST00000312358.7	+	13	3641	c.3509T>G	c.(3508-3510)aTg>aGg	p.M1170R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1170					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.M1170R(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGGAGAAGATGCCATCCATT	0.672																																																1	Substitution - Missense(1)	kidney(1)											37	44	42					2																	220333895		2173	4275	6448	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3509T>G	2.37:g.220333895T>G	ENSP00000311684:p.Met1170Arg		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.978901	0.53827	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.64803	-0.12	4.77	4.77	0.60923	.	0.000000	0.51477	D	0.000098	T	0.68072	0.2961	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.72221	-0.4356	10	0.66056	D	0.02	.	14.4658	0.67482	0.0:0.0:0.0:1.0	.	1170	Q15772	SPEG_HUMAN	R	1170	ENSP00000311684:M1170R	ENSP00000265327:M1170R	M	+	2	0	SPEG	220042139	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.829000	0.86735	2.015000	0.59207	0.533000	0.62120	ATG		0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		G	220333895	T	G	220333895	3	3	588	1	0	0	0	0	1	0	0	0	15041	1464	51	5	3571	5	SPEG	2	220333895	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	7757054	220333895	22865478	18	32117											
CUL3	8452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225360600	225360600	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:225360600G>T	ENST00000264414.4	-	13	2129	c.1791C>A	c.(1789-1791)ttC>ttA	p.F597L	CUL3_ENST00000409777.1_Missense_Mutation_p.F573L|CUL3_ENST00000344951.4_Missense_Mutation_p.F531L|CUL3_ENST00000409096.1_Missense_Mutation_p.F573L	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	597					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.F597L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGGTCATCTGGAAAGTGGAAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											143	134	137					2																	225360600		2203	4300	6503	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1791C>A	2.37:g.225360600G>T	ENSP00000264414:p.Phe597Leu		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.816074|2.816074	0.50527|0.50527	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777|ENST00000451538	T;T;T;T|.	0.74002|.	-0.8;-0.8;-0.8;-0.8|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72011|0.72011	0.3408|0.3408	L|L	0.53671|0.53671	1.685|1.685	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.26902|.	0.061;0.163;0.134;0.163|.	B;B;B;B|.	0.30105|.	0.045;0.111;0.067;0.111|.	T|T	0.68187|0.68187	-0.5475|-0.5475	10|5	0.66056|.	D|.	0.02|.	.|.	19.5255|19.5255	0.95203|0.95203	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	531;575;573;597|.	Q13618-3;Q53S54;Q13618-2;Q13618|.	.;.;.;CUL3_HUMAN|.	L|T	597;531;573;573|51	ENSP00000264414:F597L;ENSP00000343601:F531L;ENSP00000387200:F573L;ENSP00000386525:F573L|.	ENSP00000264414:F597L|.	F|P	-|-	3|1	2|0	CUL3|CUL3	225068844|225068844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.814000|4.814000	0.62627|0.62627	2.595000|2.595000	0.87683|0.87683	0.650000|0.650000	0.86243|0.86243	TTC|CCA		0.343	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			T	225360600	G	T	225360600	3	4	588	1	0	0	0	0	1	0	0	0	4058	1165	41	4	531	4	CUL3	2	225360600	Missense_Mutation	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	5026705	225360600	17838773	19	32118											
USP40	55230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234468567	234468567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr2:234468567G>A	ENST00000427112.2	-	3	306	c.271C>T	c.(271-273)Cga>Tga	p.R91*	USP40_ENST00000450966.1_Nonsense_Mutation_p.R103*|USP40_ENST00000251722.6_Nonsense_Mutation_p.R91*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	91	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.R103*(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GGGATGATTCGAACCTGAATG	0.413																																																2	Substitution - Nonsense(2)	kidney(2)											72	66	68					2																	234468567		1899	4116	6015	SO:0001587	stop_gained	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.271C>T	2.37:g.234468567G>A	ENSP00000387898:p.Arg91*		Q6NX38|Q70EL0	Nonsense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	G	36	5.796566	0.96952	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000435959	.	.	.	5.74	4.84	0.62591	.	0.121238	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2672	0.66126	0.0:0.0:0.729:0.271	.	.	.	.	X	103;91;91;91	.	ENSP00000251722:R91X	R	-	1	2	USP40	234133306	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.874000	0.48483	1.374000	0.46228	0.650000	0.86243	CGA		0.413	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		A	234468567	G	A	234468567	4	1	588	1	0	0	0	0	0	1	0	0	17077	1066	37	1	3552	1	USP40	2	234468567	Nonsense_Mutation	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	9107967	234468567	8730806	20	32119											
SPCS1	28972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52741704	52741704	+	Splice_Site	SNP	T	T	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr3:52741704T>G	ENST00000602728.1	+	4	354	c.185T>G	c.(184-186)cTg>cGg	p.L62R	GLT8D1_ENST00000491606.1_5'Flank|GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000478968.2_5'Flank|GLT8D1_ENST00000266014.5_5'Flank|SPCS1_ENST00000423431.1_Splice_Site_p.L40R|SPCS1_ENST00000233025.7_Splice_Site_p.L129R			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	62					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)	p.L129R(1)|p.L62R(1)		kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		CTGGCCCAGCTGACACTTCCT	0.423																																																2	Substitution - Missense(2)	kidney(2)											90	93	92					3																	52741704		2203	4300	6503	SO:0001630	splice_region_variant	28972			AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.184-1T>G	3.37:g.52741704T>G			B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37		.	.	.	.	.	.	.	.	.	.	T	23.4	4.406689	0.83230	.	.	ENSG00000114902	ENST00000423431;ENST00000233025	D;D	0.83673	-1.75;-1.75	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.92612	0.7653	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94070	0.7334	10	0.87932	D	0	-8.3632	15.7316	0.77810	0.0:0.0:0.0:1.0	.	129	Q9Y6A9	SPCS1_HUMAN	R	40;129	ENSP00000391610:L40R;ENSP00000233025:L129R	ENSP00000233025:L129R	L	+	2	0	SPCS1	52716744	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.169000	0.77578	2.109000	0.64355	0.482000	0.46254	CTG		0.423	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041	Missense_Mutation	G	52741704	T	G	52741704	5	3	588	1	0	0	0	0	0	0	1	0	15028	1594	55	5	400	5	SPCS1	3	52741704	Splice_Site	SNP	T	TCGA-CZ-5457-01A-01D-1501-10		52741704	145280726	21	32120											
KDR	3791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	55956163	55956163	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr4:55956163C>T	ENST00000263923.4	-	23	3447	c.3152G>A	c.(3151-3153)cGg>cAg	p.R1051Q	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1051	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R1051Q(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATAAATATCCCGGGCCAAGCC	0.408			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - Missense(1)	kidney(1)											80	82	81					4																	55956163		2203	4300	6503	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3152G>A	4.37:g.55956163C>T	ENSP00000263923:p.Arg1051Gln		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	36	5.710324	0.96821	.	.	ENSG00000128052	ENST00000263923	D	0.84873	-1.91	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92118	0.5701	10	0.87932	D	0	.	20.0835	0.97793	0.0:1.0:0.0:0.0	.	1051	P35968	VGFR2_HUMAN	Q	1051	ENSP00000263923:R1051Q	ENSP00000263923:R1051Q	R	-	2	0	KDR	55650920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.822000	0.97130	0.563000	0.77884	CGG		0.408	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			T	55956163	C	T	55956163	3	4	588	1	0	0	0	0	1	0	0	0	8141	652	23	1	950	1	KDR	4	55956163	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10		55956163	135198113	22	32121											
ADH5	128	broad.mit.edu;hgsc.bcm.edu	37	4	99997942	99997942	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr4:99997942T>A	ENST00000296412.8	-	5	527	c.477A>T	c.(475-477)aaA>aaT	p.K159N	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide									p.K159N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		AAGGATCTATTTTAGCAACAG	0.423																																																1	Substitution - Missense(1)	kidney(1)											68	62	64					4																	99997942		1880	4117	5997	SO:0001583	missense	128			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"Alcohol dehydrogenases"	253	protein-coding gene	gene with protein product		103710	"formaldehyde dehydrogenase"	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.477A>T	4.37:g.99997942T>A	ENSP00000296412:p.Lys159Asn			Missense_Mutation	SNP	ENST00000296412.8	37	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.855337	0.71719	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.04317	3.65;3.65	5.1	2.64	0.31445	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	M	0.87180	2.865	0.80722	D	1	P;P;P	0.38148	0.62;0.62;0.62	P;P;P	0.44921	0.464;0.464;0.464	T	0.00735	-1.1588	9	.	.	.	.	8.7039	0.34343	0.0:0.2394:0.0:0.7605	.	159;159;159	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	N	159;146	ENSP00000296412:K159N;ENSP00000427049:K146N	.	K	-	3	2	ADH5	100216965	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.279000	0.51670	0.497000	0.27926	-0.297000	0.09499	AAA		0.423	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		A	99997942	T	A	99997942	3	1	588	1	0	0	0	0	1	0	0	0	311	1838	64	5	667	5	ADH5	4	99997942	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	44041779	99997942	91156334	23	32122											
TKTL2	84076	broad.mit.edu;ucsc.edu	37	4	164393649	164393649	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr4:164393649T>G	ENST00000280605.3	-	1	1398	c.1238A>C	c.(1237-1239)aAt>aCt	p.N413T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	413						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.N413T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGGTTGATATTGGCTTGAGA	0.493																																																1	Substitution - Missense(1)	kidney(1)											40	43	42					4																	164393649		2203	4300	6503	SO:0001583	missense	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1238A>C	4.37:g.164393649T>G	ENSP00000280605:p.Asn413Thr		A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832509	0.50845	.	.	ENSG00000151005	ENST00000280605	T	0.46819	0.86	4.2	0.466	0.16716	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.90309	3.105	0.58432	D	0.999993	D	0.64830	0.994	P	0.61397	0.888	T	0.65768	-0.6088	10	0.72032	D	0.01	-13.9528	7.4138	0.27032	0.0:0.2791:0.0:0.7209	.	413	Q9H0I9	TKTL2_HUMAN	T	413	ENSP00000280605:N413T	ENSP00000280605:N413T	N	-	2	0	TKTL2	164613099	1.000000	0.71417	0.369000	0.25952	0.973000	0.67179	3.858000	0.55979	0.098000	0.17522	-0.250000	0.11733	AAT		0.493	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		G	164393649	T	G	164393649	3	3	588	1	0	0	0	0	1	0	0	0	15941	1493	52	5	646	5	TKTL2	4	164393649	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	64395707	164393649	26760627	24	32123											
TRIO	7204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	14485224	14485224	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:14485224A>T	ENST00000344204.4	+	47	6728	c.6704A>T	c.(6703-6705)aAa>aTa	p.K2235I	TRIO_ENST00000537187.1_Missense_Mutation_p.K2235I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2235	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K2235I(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATCCCTGTAAATTTGCTCTG	0.403																																																1	Substitution - Missense(1)	kidney(1)											138	126	130					5																	14485224		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6704A>T	5.37:g.14485224A>T	ENSP00000339299:p.Lys2235Ile		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366617	0.82463	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.34472	1.36;1.36	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.87547	2.89	0.52501	D	0.999956	P;D	0.61697	0.929;0.99	D;P	0.63703	0.917;0.758	T	0.71537	-0.4563	10	0.87932	D	0	.	15.1658	0.72825	1.0:0.0:0.0:0.0	.	2235;2235	O75962-5;O75962	.;TRIO_HUMAN	I	2235;2235;1922	ENSP00000339299:K2235I;ENSP00000446348:K2235I	ENSP00000339299:K2235I	K	+	2	0	TRIO	14538224	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.576000	0.82467	1.978000	0.57642	0.528000	0.53228	AAA		0.403	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		T	14485224	A	T	14485224	3	4	588	1	0	0	0	0	1	0	0	0	16557	14	1	5	6890	5	TRIO	5	14485224	Missense_Mutation	SNP	A	TCGA-CZ-5457-01A-01D-1501-10		14485224	166430036	25	32124											
HCN1	348980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	45262062	45262062	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:45262062G>C	ENST00000303230.4	-	8	2691	c.2634C>G	c.(2632-2634)gaC>gaG	p.D878E		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	878					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.D878E(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCGTCTGGGTCTGTGTTTA	0.493																																																1	Substitution - Missense(1)	kidney(1)											91	106	101					5																	45262062		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2634C>G	5.37:g.45262062G>C	ENSP00000307342:p.Asp878Glu			Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	3.441	-0.114047	0.06881	.	.	ENSG00000164588	ENST00000303230	D	0.97553	-4.43	5.01	4.07	0.47477	.	0.169582	0.39985	N	0.001203	D	0.89068	0.6610	N	0.04880	-0.145	0.32511	N	0.537526	B	0.06786	0.001	B	0.04013	0.001	T	0.83041	-0.0157	10	0.06365	T	0.9	.	10.4753	0.44661	0.0:0.2118:0.6641:0.1241	.	878	O60741	HCN1_HUMAN	E	878	ENSP00000307342:D878E	ENSP00000307342:D878E	D	-	3	2	HCN1	45297819	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.424000	0.21330	2.487000	0.83934	0.651000	0.88453	GAC		0.493	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		C	45262062	G	C	45262062	3	2	588	1	0	0	0	0	1	0	0	0	6998	1252	44	4	42	4	HCN1	5	45262062	Missense_Mutation	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	30776838	45262062	135653198	26	32125											
MSH3	4437	hgsc.bcm.edu	37	5	80057496	80057496	+	Splice_Site	SNP	A	A	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:80057496A>C	ENST00000265081.6	+	13	1975	c.1895A>C	c.(1894-1896)aAa>aCa	p.K632T		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	632					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TATCACAAAAAAGTAAGTGTG	0.333								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)											0													67	66	66					5																	80057496		2203	4300	6503	SO:0001630	splice_region_variant	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1896+1A>C	5.37:g.80057496A>C			A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518840	0.64634	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.90563	-2.69	5.41	4.25	0.50352	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.92391	0.7585	L	0.45581	1.43	0.37772	D	0.926702	D	0.89917	1.0	D	0.79108	0.992	D	0.91926	0.5551	9	.	.	.	-20.441	11.1864	0.48660	0.927:0.0:0.073:0.0	.	632	P20585	MSH3_HUMAN	T	632;623	ENSP00000265081:K632T	.	K	+	2	0	MSH3	80093252	1.000000	0.71417	0.992000	0.48379	0.692000	0.40212	5.957000	0.70323	0.992000	0.38840	0.459000	0.35465	AAA		0.333	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	Missense_Mutation	C	80057496	A	C	80057496	5	2	588	1	0	0	0	0	0	0	1	0	9873	28	1	5	1945	5	MSH3	5	80057496	Splice_Site	SNP	A	TCGA-CZ-5457-01A-01D-1501-10	34795434	80057496	100857764	27	32126											
AQPEP	206338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	115327884	115327884	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:115327884T>A	ENST00000357872.4	+	5	1294	c.1170T>A	c.(1168-1170)gaT>gaA	p.D390E	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		390						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D390E(1)									TGATATTTGATGAATCAGGAT	0.373																																																1	Substitution - Missense(1)	kidney(1)											131	139	136					5																	115327884		2202	4300	6502	SO:0001583	missense	206338																														ENST00000357872.4:c.1170T>A	5.37:g.115327884T>A	ENSP00000350541:p.Asp390Glu		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	T	4.038	0.004544	0.07866	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.02369	4.32	5.81	3.45	0.39498	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.195330	0.35495	N	0.003180	T	0.02610	0.0079	N	0.24115	0.695	0.80722	D	1	B	0.30563	0.285	B	0.38921	0.285	T	0.58272	-0.7665	10	0.20046	T	0.44	.	5.605	0.17374	0.0:0.1576:0.145:0.6975	.	390	Q6Q4G3	AMPQ_HUMAN	E	390;379	ENSP00000350541:D390E	ENSP00000350541:D390E	D	+	3	2	AC010282.1	115355783	0.911000	0.30947	0.996000	0.52242	0.886000	0.51366	-0.112000	0.10791	0.477000	0.27464	0.533000	0.62120	GAT		0.373	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			A	115327884	T	A	115327884	3	1	588	1	0	0	0	0	1	0	0	0	834	1461	51	5	1188	5	AQPEP	5	115327884	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	35270388	115327884	65587376	28	32127											
ARHGAP26	23092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	142150382	142150382	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:142150382G>T	ENST00000274498.4	+	1	434	c.56G>T	c.(55-57)cGa>cTa	p.R19L	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.R19L	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	19					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.R19L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGCACTTCCGAGAGACGCTC	0.642																																																1	Substitution - Missense(1)	kidney(1)											50	44	46					5																	142150382		2203	4300	6503	SO:0001583	missense	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.56G>T	5.37:g.142150382G>T	ENSP00000274498:p.Arg19Leu		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295911	0.95574	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	T;T	0.14640	2.49;2.49	5.61	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.50101	-0.8867	10	0.87932	D	0	.	13.4173	0.60976	0.0768:0.0:0.9232:0.0	.	19;19	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	L	19	ENSP00000274498:R19L;ENSP00000367243:R19L	ENSP00000274498:R19L	R	+	2	0	ARHGAP26	142130566	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.450000	0.97607	1.370000	0.46153	-0.251000	0.11542	CGA		0.642	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		T	142150382	G	T	142150382	3	4	588	1	0	0	0	0	1	0	0	0	875	1058	37	4	58	4	ARHGAP26	5	142150382	Missense_Mutation	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	26822498	142150382	38764878	29	32128											
DOCK2	1794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	169145692	169145692	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr5:169145692G>C	ENST00000256935.8	+	22	2244	c.2164G>C	c.(2164-2166)Gat>Cat	p.D722H	DOCK2_ENST00000520908.1_Missense_Mutation_p.D214H|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	722					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.D722H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACTTACTTGGATACCTCCAG	0.378																																																1	Substitution - Missense(1)	kidney(1)											122	105	111					5																	169145692		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2164G>C	5.37:g.169145692G>C	ENSP00000256935:p.Asp722His		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711136	0.89112	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	T;T	0.19938	2.11;2.11	5.58	5.58	0.84498	.	0.047476	0.85682	D	0.000000	T	0.47525	0.1450	M	0.76727	2.345	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.87	T	0.40308	-0.9570	10	0.52906	T	0.07	.	19.6412	0.95758	0.0:0.0:1.0:0.0	.	214;722	E7ERW7;Q92608	.;DOCK2_HUMAN	H	722;214	ENSP00000256935:D722H;ENSP00000429283:D214H	ENSP00000256935:D722H	D	+	1	0	DOCK2	169078270	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.985000	0.88162	2.661000	0.90470	0.644000	0.83932	GAT		0.378	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		C	169145692	G	C	169145692	3	2	588	1	0	0	0	0	1	0	0	0	4689	1174	41	4	2250	4	DOCK2	5	169145692	Missense_Mutation	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	26995310	169145692	11769568	30	32129											
CUL9	23113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43188337	43188337	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr6:43188337G>A	ENST00000252050.4	+	32	6507	c.6423G>A	c.(6421-6423)aaG>aaA	p.K2141K	CUL9_ENST00000354495.3_Splice_Site_p.K2031K|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Splice_Site_p.K2113K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2141					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.K2141K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCATCTCCAAGGTATCCCCTC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											91	94	93					6																	43188337		2203	4300	6503	SO:0001630	splice_region_variant	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6423+1G>A	6.37:g.43188337G>A			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																				0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	Silent	A	43188337	G	A	43188337	5	1	588	1	0	0	0	0	0	0	1	0	4063	1014	35	2	6545	2	CUL9	6	43188337	Splice_Site	SNP	G	TCGA-CZ-5457-01A-01D-1501-10		43188337	127926730	31	32130											
ARID1B	57492	broad.mit.edu;hgsc.bcm.edu	37	6	157469827	157469827	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr6:157469827T>A	ENST00000350026.5	+	8	2583	c.2582T>A	c.(2581-2583)aTg>aAg	p.M861K	ARID1B_ENST00000367148.1_Missense_Mutation_p.M861K|ARID1B_ENST00000346085.5_Missense_Mutation_p.M874K|ARID1B_ENST00000275248.4_Missense_Mutation_p.M803K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	861					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.M874K(1)|p.M803K(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGGCCCGGTATGGGTATCAGT	0.557																																																2	Substitution - Missense(2)	kidney(2)											89	85	86					6																	157469827		2203	4296	6499	SO:0001583	missense	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2582T>A	6.37:g.157469827T>A	ENSP00000055163:p.Met861Lys		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812275	0.90707	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	6.17	6.17	0.99709	.	0.171861	0.64402	D	0.000008	T	0.19446	0.0467	N	0.19112	0.55	0.58432	D	0.999999	B;D;P;P;P	0.63880	0.437;0.993;0.627;0.744;0.744	B;P;B;B;B	0.53062	0.189;0.717;0.196;0.359;0.359	T	0.02275	-1.1184	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	111;245;861;874;803	Q8NFD5-4;F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;.;ARI1B_HUMAN;.;.	K	874;861;861;803;278;245;330;283	ENSP00000344546:M874K;ENSP00000055163:M861K;ENSP00000356116:M861K;ENSP00000275248:M803K;ENSP00000412835:M330K;ENSP00000313006:M283K	ENSP00000275248:M803K	M	+	2	0	ARID1B	157511519	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.177000	0.77650	2.371000	0.80710	0.533000	0.62120	ATG		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		A	157469827	T	A	157469827	3	1	588	1	0	0	0	0	1	0	0	0	914	1464	51	5	2655	5	ARID1B	6	157469827	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	114281490	157469827	13645240	32	32131											
TULP4	56995	broad.mit.edu;ucsc.edu	37	6	158924983	158924983	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr6:158924983T>A	ENST00000367097.3	+	13	5645	c.4288T>A	c.(4288-4290)Tgg>Agg	p.W1430R	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1430					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W1430R(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGAAAGGGCTGGAAAAGCAA	0.642																																																1	Substitution - Missense(1)	kidney(1)											37	43	41					6																	158924983		2203	4298	6501	SO:0001583	missense	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.4288T>A	6.37:g.158924983T>A	ENSP00000356064:p.Trp1430Arg		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297169	0.60086	.	.	ENSG00000130338	ENST00000367097	T	0.61859	0.07	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65479	-0.6158	10	0.62326	D	0.03	-17.2505	15.9319	0.79668	0.0:0.0:0.0:1.0	.	1430	Q9NRJ4	TULP4_HUMAN	R	1430	ENSP00000356064:W1430R	ENSP00000356064:W1430R	W	+	1	0	TULP4	158844971	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	7.487000	0.81328	2.225000	0.72522	0.459000	0.35465	TGG		0.642	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		A	158924983	T	A	158924983	3	1	588	1	0	0	0	0	1	0	0	0	16781	1580	55	5	4338	5	TULP4	6	158924983	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	1455156	158924983	12190084	33	32132											
TTYH3	80727	broad.mit.edu	37	7	2698601	2698601	+	Silent	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr7:2698601C>T	ENST00000258796.7	+	13	1657	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	TTYH3_ENST00000407643.1_Silent_p.P452P|TTYH3_ENST00000403167.1_Silent_p.P313P	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	484					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.P484P(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TCCAGAACCCCCGCTGTGAGA	0.657																																																1	Substitution - coding silent(1)	kidney(1)											145	138	140					7																	2698601		2203	4300	6503	SO:0001819	synonymous_variant	80727				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1452C>T	7.37:g.2698601C>T			A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	CCDS34588.1																																																																																				0.657	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		T	2698601	C	T	2698601	2	4	588	1	0	0	0	0	0	0	0	1	16746	610	22	2		2	TTYH3	7	2698601	Silent	SNP	C	TCGA-CZ-5457-01A-01D-1501-10		2698601	156440062	34	32133											
TPST1	8460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	65705728	65705728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr7:65705728C>T	ENST00000304842.5	+	2	741	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	106					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.R106R(1)|p.R106*(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGTCATTCCCCGAATCCTGGC	0.537																																																2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)											94	92	93					7																	65705728		2203	4300	6503	SO:0001587	stop_gained	8460			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.316C>T	7.37:g.65705728C>T	ENSP00000302413:p.Arg106*		A4D2M0|Q6FGM7	Nonsense_Mutation	SNP	ENST00000304842.5	37	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	C	38	6.967402	0.97971	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5558	15.4178	0.74983	0.1394:0.8606:0.0:0.0	.	.	.	.	X	106	.	ENSP00000302413:R106X	R	+	1	2	TPST1	65343163	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	3.270000	0.51600	2.723000	0.93209	0.585000	0.79938	CGA		0.537	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		T	65705728	C	T	65705728	4	4	588	1	0	0	0	0	0	1	0	0	16432	644	23	1	318	1	TPST1	7	65705728	Nonsense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	63007127	65705728	93432935	35	32134											
OR13C2	392376	broad.mit.edu;hgsc.bcm.edu	37	9	107367525	107367525	+	Silent	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr9:107367525G>A	ENST00000542196.1	-	1	426	c.384C>T	c.(382-384)aaC>aaT	p.N128N		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N128N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATCTCAGAGGGTTGCAGATAG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											86	92	90					9																	107367525		2202	4297	6499	SO:0001819	synonymous_variant	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.384C>T	9.37:g.107367525G>A			B9EGV8|Q6IF54	Silent	SNP	ENST00000542196.1	37	CCDS35092.1																																																																																				0.522	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		A	107367525	G	A	107367525	2	1	588	1	0	0	0	0	0	0	0	1	10936	1252	44	2		2	OR13C2	9	107367525	Silent	SNP	G	TCGA-CZ-5457-01A-01D-1501-10		107367525	33845906	36	32135											
NUP214	8021	hgsc.bcm.edu;ucsc.edu	37	9	134067639	134067640	+	Frame_Shift_Del	DEL	TC	TC	-	rs199693388		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr9:134067639_134067640delTC	ENST00000359428.5	+	27	3763_3764	c.3619_3620delTC	c.(3619-3621)tctfs	p.S1207fs	NUP214_ENST00000451030.1_Frame_Shift_Del_p.S1208fs|NUP214_ENST00000411637.2_Frame_Shift_Del_p.S1197fs|NUP214_ENST00000465486.2_3'UTR|RP11-544A12.8_ENST00000502188.1_RNA|NUP214_ENST00000483497.2_Frame_Shift_Del_p.S33fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1207	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCCATCTGCTTCTGGGCAGTTC	0.347			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0																																										SO:0001589	frameshift_variant	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3619_3620delTC	9.37:g.134067639_134067640delTC	ENSP00000352400:p.Ser1207fs		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Del	DEL	ENST00000359428.5	37	CCDS6940.1																																																																																				0.347	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		-	134067640	TC	-	134067639	7	5	588	1	0	1	0	1	0	0	0	0	10764	1783	62	0	3725	0	NUP214	9	134067639	Frame_Shift_Del	DEL	TC	TCGA-CZ-5457-01A-01D-1501-10	26700114	134067639	7145792	37	32136											
EGFL7	51162	broad.mit.edu	37	9	139563044	139563044	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr9:139563044C>G	ENST00000371699.1	+	4	1027	c.116C>G	c.(115-117)cCt>cGt	p.P39R	EGFL7_ENST00000308874.7_Missense_Mutation_p.P39R|EGFL7_ENST00000492002.1_3'UTR|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Missense_Mutation_p.P39R|EGFL7_ENST00000371698.3_Missense_Mutation_p.P39R			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	39	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)	p.P39R(1)		kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CACGGGGACCCTGTCTCCGAG	0.667																																																1	Substitution - Missense(1)	kidney(1)											72	70	70					9																	139563044		2203	4297	6500	SO:0001583	missense	51162			AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.116C>G	9.37:g.139563044C>G	ENSP00000360764:p.Pro39Arg		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	ENST00000371699.1	37	CCDS7002.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460076	0.43736	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.16	3.23	0.37069	EMI domain (2);	0.786286	0.12527	N	0.461133	T	0.34454	0.0898	N	0.16790	0.44	0.09310	N	1	P	0.45634	0.863	P	0.46629	0.522	T	0.14337	-1.0476	10	0.51188	T	0.08	-4.9907	12.0912	0.53728	0.1733:0.8267:0.0:0.0	.	39	Q9UHF1	EGFL7_HUMAN	R	39	ENSP00000360764:P39R;ENSP00000307843:P39R;ENSP00000385639:P39R;ENSP00000360763:P39R	ENSP00000307843:P39R	P	+	2	0	EGFL7	138682865	0.002000	0.14202	0.011000	0.14972	0.030000	0.12068	1.229000	0.32600	0.890000	0.36211	0.462000	0.41574	CCT		0.667	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		G	139563044	C	G	139563044	3	3	588	1	0	0	0	0	1	0	0	0	4966	681	24	4	122	4	EGFL7	9	139563044	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	5495405	139563044	1650387	38	32137											
AGAP7	653268	hgsc.bcm.edu	37	10	51485991	51485991	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr10:51485991delC	ENST00000374095.5	-	1	336	c.211delG	c.(211-213)gagfs	p.E71fs		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		71					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCAGGCATCTCCCGGTCACGA	0.592																																																0													1	1	1					10																	51485991		7	1	8	SO:0001589	frameshift_variant	653268																														ENST00000374095.5:c.211delG	10.37:g.51485991delC	ENSP00000363208:p.Glu71fs		A6NGH4	Frame_Shift_Del	DEL	ENST00000374095.5	37	CCDS41524.1																																																																																				0.592	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			-	51485991	C	-	51485991	7	5	588	1	0	1	0	1	0	0	0	0	373	864	30	0	1808	0	AGAP7	10	51485991	Frame_Shift_Del	DEL	C	TCGA-CZ-5457-01A-01D-1501-10		51485991	84048756	39	32138											
PLAU	414236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75676303	75676303	+	5'UTR	SNP	G	G	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr10:75676303G>C	ENST00000409178.1	-	0	241				PLAU_ENST00000372762.4_Missense_Mutation_p.E390Q|PLAU_ENST00000372764.3_Missense_Mutation_p.E426Q|C10orf55_ENST00000412307.2_5'UTR|PLAU_ENST00000446342.1_Missense_Mutation_p.E409Q	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.E426Q(1)		endometrium(1)	1	Prostate(51;0.0112)					CACCAAGGAAGAGAATGGCCT	0.562																																																1	Substitution - Missense(1)	kidney(1)											47	39	42					10																	75676303		2203	4300	6503	SO:0001623	5_prime_UTR_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.-100C>G	10.37:g.75676303G>C			Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	G	3.499	-0.102203	0.06967	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.87650	-2.28;-2.28;-2.28	4.9	2.01	0.26516	Peptidase cysteine/serine, trypsin-like (1);	0.524033	0.22054	N	0.065267	T	0.72028	0.3410	N	0.12663	0.25	0.19300	N	0.999978	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.60291	-0.7292	10	0.38643	T	0.18	.	6.702	0.23230	0.096:0.3842:0.5197:0.0	.	409;390;426;426	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	Q	409;426;390;390	ENSP00000388474:E409Q;ENSP00000361850:E426Q;ENSP00000361848:E390Q	ENSP00000361847:E390Q	E	+	1	0	PLAU	75346309	.	.	0.363000	0.25875	0.019000	0.09904	.	.	0.736000	0.32559	-0.226000	0.12346	GAG		0.562	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		C	75676303	G	C	75676303	1	2	588	0	1	0	0	0	0	0	0	0	12024	943	33	4		4	PLAU	10	75676303	5'UTR	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	24190312	75676303	59858444	40	32139											
TNKS2	80351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93604754	93604754	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr10:93604754T>C	ENST00000371627.4	+	17	2517	c.2138T>C	c.(2137-2139)cTt>cCt	p.L713P		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	713					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L713P(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AAAGGAGGACTTATTCCTTTA	0.343																																																1	Substitution - Missense(1)	kidney(1)											97	93	94					10																	93604754		2203	4300	6503	SO:0001583	missense	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2138T>C	10.37:g.93604754T>C	ENSP00000360689:p.Leu713Pro		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438751	0.83885	.	.	ENSG00000107854	ENST00000371627	T	0.66638	-0.22	5.06	5.06	0.68205	Ankyrin repeat-containing domain (4);	0.000000	0.46442	D	0.000293	T	0.77525	0.4143	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79480	-0.1786	10	0.62326	D	0.03	.	15.1084	0.72336	0.0:0.0:0.0:1.0	.	713	Q9H2K2	TNKS2_HUMAN	P	713	ENSP00000360689:L713P	ENSP00000360689:L713P	L	+	2	0	TNKS2	93594734	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.997000	0.88414	2.022000	0.59522	0.477000	0.44152	CTT		0.343	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		C	93604754	T	C	93604754	3	2	588	1	0	0	0	0	1	0	0	0	16326	1609	56	3	2204	3	TNKS2	10	93604754	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	17928451	93604754	41929993	41	32140											
EIF4G2	1982	broad.mit.edu;hgsc.bcm.edu	37	11	10820873	10820873	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr11:10820873A>G	ENST00000526148.1	-	20	2933	c.2423T>C	c.(2422-2424)cTa>cCa	p.L808P	EIF4G2_ENST00000339995.5_Missense_Mutation_p.L808P|EIF4G2_ENST00000396525.2_Missense_Mutation_p.L770P|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.L808P|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.L808P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGATAGTAGTAGTTGTTTTTC	0.428																																																1	Substitution - Missense(1)	kidney(1)											139	129	132					11																	10820873		2201	4294	6495	SO:0001583	missense	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2423T>C	11.37:g.10820873A>G	ENSP00000433664:p.Leu808Pro			Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.860202	0.71834	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T	0.21932	1.99;1.99;1.99;1.98	6.07	6.07	0.98685	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.81802	2.56	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.56902	-0.7902	9	0.87932	D	0	-4.2444	16.6406	0.85098	1.0:0.0:0.0:0.0	.	808;881	P78344;B4DZF2	IF4G2_HUMAN;.	P	808;808;808;770;881;156;190	ENSP00000433664:L808P;ENSP00000433371:L808P;ENSP00000340281:L808P;ENSP00000379778:L770P	ENSP00000340281:L808P	L	-	2	0	EIF4G2	10777449	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.936000	0.70153	2.326000	0.78906	0.533000	0.62120	CTA		0.428	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		G	10820873	A	G	10820873	3	3	588	1	0	0	0	0	1	0	0	0	5039	420	15	3	312	3	EIF4G2	11	10820873	Missense_Mutation	SNP	A	TCGA-CZ-5457-01A-01D-1501-10		10820873	124185643	42	32141											
KCNA4	3739	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	30033589	30033589	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr11:30033589C>A	ENST00000328224.6	-	2	1870	c.637G>T	c.(637-639)Gac>Tac	p.D213Y	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	213					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.D213Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CGCAAAGGGTCAAAGTACTGA	0.468																																																1	Substitution - Missense(1)	kidney(1)											69	65	66					11																	30033589		1873	4106	5979	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.637G>T	11.37:g.30033589C>A	ENSP00000328511:p.Asp213Tyr			Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906444	0.72868	.	.	ENSG00000182255	ENST00000328224	T	0.78481	-1.18	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.052911	0.64402	D	0.000001	D	0.93504	0.7927	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96614	0.9454	10	0.87932	D	0	.	17.8942	0.88881	0.0:1.0:0.0:0.0	.	213	P22459	KCNA4_HUMAN	Y	213	ENSP00000328511:D213Y	ENSP00000328511:D213Y	D	-	1	0	KCNA4	29990165	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.787000	0.85759	2.227000	0.72691	0.561000	0.74099	GAC		0.468	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		A	30033589	C	A	30033589	3	1	588	1	0	0	0	0	1	0	0	0	8007	826	29	4	1328	4	KCNA4	11	30033589	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	19212716	30033589	104972927	43	32142											
OR5M10	390167	hgsc.bcm.edu	37	11	56344846	56344847	+	Missense_Mutation	DNP	TT	TT	AG	rs148438199	byFrequency	TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr11:56344846_56344847TT>AG	ENST00000526812.2	-	1	416_417	c.351_352AA>CT	c.(349-354)tcAAtg>tcCTtg	p.M118L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCCAATGCCATTGAAGCAAGGA	0.45																																																0																																										SO:0001583	missense	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.351_352delinsAG	11.37:g.56344846_56344847delinsAG	ENSP00000436004:p.Met118Leu		B9EIL9	Missense_Mutation|Silent	SNP	ENST00000526812.2	37	CCDS53630.1																																																																																				0.45	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		AG	56344847	TT	AG	56344846	3	1	588	1	0	0	0	0	1	0	0	0	11175	1493	52	5	599	5	OR5M10	11	56344846	Missense_Mutation	DNP	TT	TCGA-CZ-5457-01A-01D-1501-10	26311257	56344846	78661670	44	32143											
CACNA1C	775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2675675	2675675	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:2675675C>G	ENST00000347598.4	+	12	1596	c.1596C>G	c.(1594-1596)ttC>ttG	p.F532L	CACNA1C_ENST00000399644.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000480911.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.F557L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.F532L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.F532L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399655.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399638.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.F532L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.F532L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.F532L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	532					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F532L(3)|p.F67L(1)|p.F562L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGTGATTTTCCTGGTGTTCC	0.587																																																5	Substitution - Missense(5)	kidney(5)											43	50	48					12																	2675675		1999	4175	6174	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1596C>G	12.37:g.2675675C>G	ENSP00000266376:p.Phe532Leu		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.898002	0.33535	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	N	0.04686	-0.185	0.58432	D	0.999999	B;D;B;B;D;D;D;D;B;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.64830	0.001;0.993;0.394;0.001;0.987;0.993;0.99;0.993;0.003;0.003;0.993;0.99;0.001;0.988;0.982;0.989;0.982;0.005;0.994;0.005;0.982;0.993;0.993;0.982;0.982;0.99	B;D;B;B;D;D;D;D;B;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.79108	0.001;0.981;0.255;0.001;0.974;0.99;0.979;0.99;0.006;0.009;0.99;0.979;0.006;0.992;0.952;0.977;0.961;0.006;0.981;0.006;0.961;0.99;0.99;0.961;0.961;0.979	D	0.90828	0.4714	10	0.08179	T	0.78	.	12.4932	0.55912	0.0:0.9241:0.0:0.0759	.	201;532;529;532;532;532;532;532;532;532;532;532;503;532;532;532;532;532;532;532;532;532;532;532;532;532	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	557;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;532;373	ENSP00000336982:F557L;ENSP00000382563:F532L;ENSP00000437936:F532L;ENSP00000382552:F532L;ENSP00000382547:F532L;ENSP00000382506:F532L;ENSP00000382530:F532L;ENSP00000382546:F532L;ENSP00000382500:F532L;ENSP00000382549:F532L;ENSP00000266376:F532L;ENSP00000382515:F532L;ENSP00000382510:F532L;ENSP00000341092:F532L;ENSP00000382537:F532L;ENSP00000329877:F532L;ENSP00000382557:F532L;ENSP00000385724:F532L;ENSP00000382512:F532L;ENSP00000382542:F532L;ENSP00000382526:F532L;ENSP00000385896:F532L;ENSP00000382504:F532L	ENSP00000323129:F373L	F	+	3	2	CACNA1C	2545936	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.548000	0.45794	2.769000	0.95229	0.563000	0.77884	TTC		0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		G	2675675	C	G	2675675	3	3	588	1	0	0	0	0	1	0	0	0	2542	854	30	4	1750	4	CACNA1C	12	2675675	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10		2675675	131176220	45	32144											
ERP27	121506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	15087884	15087884	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:15087884T>C	ENST00000266397.2	-	3	812	c.239A>G	c.(238-240)cAa>cGa	p.Q80R		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	80	Thioredoxin.					endoplasmic reticulum (GO:0005783)		p.Q80R(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TGGGAATTTTTGCACCATGCT	0.438																																																1	Substitution - Missense(1)	kidney(1)											98	83	88					12																	15087884		2203	4300	6503	SO:0001583	missense	121506			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"Protein disulfide isomerases"	26495	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 8"	610642	"chromosome 12 open reading frame 46", "endoplasmic reticulum protein 27 kDa"	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.239A>G	12.37:g.15087884T>C	ENSP00000266397:p.Gln80Arg			Missense_Mutation	SNP	ENST00000266397.2	37	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	T	3.955	-0.011435	0.07727	.	.	ENSG00000139055	ENST00000266397	T	0.28666	1.6	4.99	0.861	0.19048	Thioredoxin-like fold (2);	0.818368	0.11316	N	0.576527	T	0.15305	0.0369	N	0.25144	0.715	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27191	-1.0081	10	0.21014	T	0.42	-11.462	1.769	0.03008	0.1662:0.0927:0.1725:0.5686	.	80	Q96DN0	ERP27_HUMAN	R	80	ENSP00000266397:Q80R	ENSP00000266397:Q80R	Q	-	2	0	ERP27	14979151	0.001000	0.12720	0.003000	0.11579	0.058000	0.15608	0.309000	0.19332	0.402000	0.25451	0.533000	0.62120	CAA		0.438	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		C	15087884	T	C	15087884	3	2	588	1	0	0	0	0	1	0	0	0	5243	1812	63	3	602	3	ERP27	12	15087884	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	12412209	15087884	118764011	46	32145											
COL2A1	1280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48388230	48388230	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:48388230C>T	ENST00000380518.3	-	12	957	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	COL2A1_ENST00000337299.6_Missense_Mutation_p.E196K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	265	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E265K(1)|p.E196K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGACCCCTTTCACCAGCTTTT	0.577																																																2	Substitution - Missense(2)	kidney(2)											116	98	104					12																	48388230		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.793G>A	12.37:g.48388230C>T	ENSP00000369889:p.Glu265Lys		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385322	0.82792	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93189	-3.18;-3.18	3.91	3.91	0.45181	.	0.059570	0.64402	D	0.000005	D	0.95993	0.8695	M	0.72576	2.205	0.80722	D	1	P;P	0.51351	0.931;0.944	D;D	0.72982	0.964;0.979	D	0.95576	0.8642	10	0.48119	T	0.1	.	15.8912	0.79299	0.0:1.0:0.0:0.0	.	196;265	P02458-1;P02458	.;CO2A1_HUMAN	K	265;196;196	ENSP00000369889:E265K;ENSP00000338213:E196K	ENSP00000338213:E196K	E	-	1	0	COL2A1	46674497	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	5.692000	0.68256	2.478000	0.83669	0.561000	0.74099	GAA		0.577	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		T	48388230	C	T	48388230	3	4	588	1	0	0	0	0	1	0	0	0	3689	835	29	2	3842	2	COL2A1	12	48388230	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	33300346	48388230	85463665	47	32146											
MLL2	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49436587	49436587	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:49436587G>C	ENST00000301067.7	-	26	5718	c.5719C>G	c.(5719-5721)Ctg>Gtg	p.L1907V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1907					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L1637V(1)|p.L1907V(1)									CCACAACCCAGATGCTGTTCT	0.537																																																2	Substitution - Missense(2)	kidney(2)											107	105	105					12																	49436587		2042	4197	6239	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5719C>G	12.37:g.49436587G>C	ENSP00000301067:p.Leu1907Val		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	6.797	0.516071	0.12944	.	.	ENSG00000167548	ENST00000301067	T	0.79845	-1.31	5.51	3.46	0.39613	.	0.000000	0.29565	N	0.011791	T	0.54532	0.1864	N	0.08118	0	0.09310	N	0.999998	P	0.40083	0.702	B	0.26517	0.07	T	0.55328	-0.8158	10	0.87932	D	0	.	6.9707	0.24646	0.1716:0.0:0.6757:0.1527	.	1907	O14686	MLL2_HUMAN	V	1907	ENSP00000301067:L1907V	ENSP00000301067:L1907V	L	-	1	2	MLL2	47722854	0.998000	0.40836	0.876000	0.34364	0.827000	0.46813	2.548000	0.45794	1.293000	0.44690	0.561000	0.74099	CTG		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			C	49436587	G	C	49436587	3	2	588	1	0	0	0	0	1	0	0	0	9623	933	33	4	11010	4	MLL2	12	49436587	Missense_Mutation	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	1048357	49436587	84415308	48	32147											
NUP37	79023	hgsc.bcm.edu;ucsc.edu	37	12	102471203	102471203	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:102471203delC	ENST00000552283.1	-	7	758	c.619delG	c.(619-621)gaafs	p.E207fs	NUP37_ENST00000251074.1_Frame_Shift_Del_p.E207fs|NUP37_ENST00000543021.1_5'Flank|RP11-554E23.4_ENST00000552707.1_RNA			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	207					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GGCACTTGTTCTGATTCAAGA	0.383																																																0													145	147	146					12																	102471203		2203	4300	6503	SO:0001589	frameshift_variant	79023			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"WD repeat domain containing"	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.619delG	12.37:g.102471203delC	ENSP00000448054:p.Glu207fs		Q9H644	Frame_Shift_Del	DEL	ENST00000552283.1	37	CCDS9089.1																																																																																				0.383	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		-	102471203	C	-	102471203	7	5	588	1	0	1	0	1	0	0	0	0	10766	922	32	0	377	0	NUP37	12	102471203	Frame_Shift_Del	DEL	C	TCGA-CZ-5457-01A-01D-1501-10	53034616	102471203	31380692	49	32148											
DAO	1610	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109290797	109290797	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:109290797A>G	ENST00000228476.3	+	8	832	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	DAO_ENST00000551281.1_Missense_Mutation_p.M144V	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	210					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.M210V(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CGCCCCTTGGATGAAGCACTT	0.542																																																1	Substitution - Missense(1)	kidney(1)											146	114	125					12																	109290797		2203	4300	6503	SO:0001583	missense	1610			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.628A>G	12.37:g.109290797A>G	ENSP00000228476:p.Met210Val		B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	A	0.068	-1.209146	0.01568	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768	T;T;T	0.80738	-1.41;-1.41;-1.41	5.74	-2.83	0.05769	FAD dependent oxidoreductase (1);	0.648939	0.18295	N	0.145602	T	0.41789	0.1174	N	0.02379	-0.575	0.24703	N	0.993244	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.47114	-0.9142	10	0.02654	T	1	-29.5459	0.6303	0.00793	0.4238:0.1217:0.2181:0.2364	.	210;193	P14920;Q7Z312	OXDA_HUMAN;.	V	144;210;87	ENSP00000446853:M144V;ENSP00000228476:M210V;ENSP00000449967:M87V	ENSP00000228476:M210V	M	+	1	0	DAO	107814926	0.995000	0.38212	0.528000	0.27938	0.193000	0.23685	0.348000	0.20031	-0.113000	0.11958	0.459000	0.35465	ATG		0.542	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			G	109290797	A	G	109290797	3	3	588	1	0	0	0	0	1	0	0	0	4233	333	12	3	654	3	DAO	12	109290797	Missense_Mutation	SNP	A	TCGA-CZ-5457-01A-01D-1501-10	6819594	109290797	24561098	50	32149											
P2RX4	5025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121660766	121660766	+	Silent	SNP	G	G	A	rs140643624		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr12:121660766G>A	ENST00000337233.4	+	5	752	c.444G>A	c.(442-444)agG>agA	p.R148R	P2RX4_ENST00000540930.1_Intron|P2RX4_ENST00000543171.1_Silent_p.R47R|P2RX4_ENST00000541532.1_Intron|P2RX4_ENST00000359949.7_Silent_p.R164R	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	148				R -> W (in Ref. 8; AAB66834). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.R148R(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAACAGGCAGGTGCGTAGCTT	0.587																																																1	Substitution - coding silent(1)	kidney(1)						A		1,4405	825.2+/-416.5	0,1,2202	134	98	110		444	-5.1	0	12	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous	P2RX4	NM_002560.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		148/389	121660766	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5025			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.444G>A	12.37:g.121660766G>A			E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	ENST00000337233.4	37	CCDS9214.1	.	.	.	.	.	.	.	.	.	.	A	5.243	0.230333	0.09969	2.27E-4	0.0	ENSG00000135124	ENST00000542067	.	.	.	5.17	-5.08	0.02929	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3401	0.90302	0.3179:0.0:0.6821:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	P2RX4	120145149	0.000000	0.05858	0.015000	0.15790	0.094000	0.18550	-0.437000	0.06914	-1.666000	0.01475	-0.254000	0.11334	.		0.587	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		A	121660766	G	A	121660766	2	1	588	1	0	0	0	0	0	0	0	1	11344	1252	44	2		2	P2RX4	12	121660766	Silent	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	12369969	121660766	12191129	51	32150											
LTB4R	1241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24785139	24785139	+	Silent	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr14:24785139C>T	ENST00000396789.4	+	2	2007	c.282C>T	c.(280-282)caC>caT	p.H94H	LTB4R_ENST00000345363.3_Silent_p.H94H|LTB4R_ENST00000396782.2_Silent_p.H94H	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	94					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)	p.H94H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GCCTGTGTCACTATGTCTGCG	0.607																																																1	Substitution - coding silent(1)	kidney(1)											106	96	99					14																	24785139		2203	4300	6503	SO:0001819	synonymous_variant	1241			X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"GPCR / Class A : Leukotriene receptors"	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.282C>T	14.37:g.24785139C>T			Q13305|Q53XV5|Q92641|Q9BSU5	Silent	SNP	ENST00000396789.4	37	CCDS9626.1																																																																																				0.607	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			T	24785139	C	T	24785139	2	4	588	1	0	0	0	0	0	0	0	1	9073	564	20	2		2	LTB4R	14	24785139	Silent	SNP	C	TCGA-CZ-5457-01A-01D-1501-10		24785139	82564401	52	32151											
VIPAR	63894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77916095	77916095	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr14:77916095C>T	ENST00000553888.1	-	5	854	c.344G>A	c.(343-345)gGt>gAt	p.G115D	VIPAS39_ENST00000556412.1_Splice_Site_p.G141D|VIPAS39_ENST00000343765.2_Splice_Site_p.G115D|VIPAS39_ENST00000448935.2_Splice_Site_p.S66N|VIPAS39_ENST00000327028.4_Intron|VIPAS39_ENST00000557658.1_Splice_Site_p.G115D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	115					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.G115D(1)									TCTAGTTCTACCTAAAGGTAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											109	102	104					14																	77916095		2203	4300	6503	SO:0001630	splice_region_variant	0			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.344-1G>A	14.37:g.77916095C>T			B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	CCDS9862.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.239825|4.239825	0.79912|0.79912	.|.	.|.	ENSG00000151445|ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000557658;ENST00000556412|ENST00000448935	T;T;T;T|T	0.40225|0.50548	1.04;1.04;1.04;1.04|0.74	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.046434|.	0.85682|.	D|.	0.000000|.	T|T	0.63686|0.63686	0.2532|0.2532	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|D	0.76494|0.71674	0.999|0.998	D|D	0.71656|0.71870	0.974|0.975	T|T	0.65948|0.65948	-0.6044|-0.6044	10|9	0.08381|0.72032	T|D	0.77|0.01	.|.	17.0567|17.0567	0.86535|0.86535	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	115|66	Q9H9C1|B4DPI6	VIPAR_HUMAN|.	D|N	115;115;115;141|66	ENSP00000339122:G115D;ENSP00000452181:G115D;ENSP00000452191:G115D;ENSP00000451857:G141D|ENSP00000404815:S66N	ENSP00000339122:G115D|ENSP00000404815:S66N	G|S	-|-	2|2	0|0	VIPAR|VIPAR	76985848|76985848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.719000|3.719000	0.54926|0.54926	2.461000|2.461000	0.83175|0.83175	0.563000|0.563000	0.77884|0.77884	GGT|AGT		0.428	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067	Missense_Mutation	T	77916095	C	T	77916095	5	4	588	1	0	0	0	0	0	0	1	0	17173	521	18	2	1201	2	VIPAR	14	77916095	Splice_Site	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	53130956	77916095	29433445	53	32152											
THBS1	7057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	39881491	39881491	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr15:39881491C>A	ENST00000260356.5	+	12	2027	c.1862C>A	c.(1861-1863)cCc>cAc	p.P621H		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	621					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.P621H(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CTGCCCTGCCCCCCACGCTTC	0.577																																																1	Substitution - Missense(1)	kidney(1)											83	88	87					15																	39881491		2200	4297	6497	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1862C>A	15.37:g.39881491C>A	ENSP00000260356:p.Pro621His		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.6|29.6	5.022093|5.022093	0.93462|0.93462	.|.	.|.	ENSG00000137801|ENSG00000137801	ENST00000260356|ENST00000397593	D|.	0.92446|.	-3.04|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Epidermal growth factor-like (1);EGF-like calcium-binding (1);|.	0.000000|0.000000	0.35772|0.35772	N|N	0.002998|0.002998	D|D	0.85775|0.85775	0.5775|0.5775	M|M	0.89534|0.89534	3.04|3.04	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.88133|0.88133	0.2839|0.2839	10|7	0.87932|0.87932	D|D	0|0	-9.7384|-9.7384	19.6845|19.6845	0.95976|0.95976	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	536;621|.	B4E3J7;P07996|.	.;TSP1_HUMAN|.	H|T	621|55	ENSP00000260356:P621H|.	ENSP00000260356:P621H|ENSP00000380721:P55T	P|P	+|+	2|1	0|0	THBS1|THBS1	37668783|37668783	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.698000|0.698000	0.40448|0.40448	7.818000|7.818000	0.86416|0.86416	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.577	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		A	39881491	C	A	39881491	3	1	588	1	0	0	0	0	1	0	0	0	15858	623	22	4	1904	4	THBS1	15	39881491	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10		39881491	62649901	54	32153											
TGM7	116179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43577100	43577100	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr15:43577100C>T	ENST00000452443.2	-	7	920	c.916G>A	c.(916-918)Gcg>Acg	p.A306T		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	306					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A306T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	ACGTTGTGCGCGGAACGGAAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											199	163	175					15																	43577100		2202	4299	6501	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.916G>A	15.37:g.43577100C>T	ENSP00000389466:p.Ala306Thr			Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	35	5.568819	0.96540	.	.	ENSG00000159495	ENST00000452443	T	0.54866	0.55	5.63	5.63	0.86233	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.81341	2.54	0.51767	D	0.99993	D	0.89917	1.0	D	0.91635	0.999	T	0.77838	-0.2439	10	0.87932	D	0	-11.8089	17.1875	0.86870	0.0:1.0:0.0:0.0	.	306	Q96PF1	TGM7_HUMAN	T	306	ENSP00000389466:A306T	ENSP00000389466:A306T	A	-	1	0	TGM7	41364392	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.778000	0.62368	2.665000	0.90641	0.655000	0.94253	GCG		0.428	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		T	43577100	C	T	43577100	3	4	588	1	0	0	0	0	1	0	0	0	15840	768	27	1	1244	1	TGM7	15	43577100	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	3695609	43577100	58954292	55	32154											
ZNF280D	54816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56924221	56924221	+	Silent	SNP	A	A	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr15:56924221A>C	ENST00000267807.7	-	22	2631	c.2415T>G	c.(2413-2415)gtT>gtG	p.V805V	RP11-1129I3.1_ENST00000562300.1_RNA|ZNF280D_ENST00000559237.1_Silent_p.V792V	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	805					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V805V(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CCTTATCTGAAACTGTTATGC	0.343																																																1	Substitution - coding silent(1)	kidney(1)											118	115	116					15																	56924221		2192	4292	6484	SO:0001819	synonymous_variant	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2415T>G	15.37:g.56924221A>C			A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	37	CCDS32245.1																																																																																				0.343	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		C	56924221	A	C	56924221	2	2	588	1	0	0	0	0	0	0	0	1	17822	1	1	5		5	ZNF280D	15	56924221	Silent	SNP	A	TCGA-CZ-5457-01A-01D-1501-10	13347121	56924221	45607171	56	32155											
BCL2A1	597	broad.mit.edu;hgsc.bcm.edu	37	15	80253460	80253460	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr15:80253460T>A	ENST00000267953.3	-	2	803	c.477A>T	c.(475-477)gaA>gaT	p.E159D	BCL2A1_ENST00000335661.6_3'UTR	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	159					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E159D(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						TTCCTGTAACTTCTAGAAAAG	0.348																																																1	Substitution - Missense(1)	kidney(1)											93	90	91					15																	80253460		2203	4300	6503	SO:0001583	missense	597				CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.477A>T	15.37:g.80253460T>A	ENSP00000267953:p.Glu159Asp		Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	T	3.425	-0.117290	0.06838	.	.	ENSG00000140379	ENST00000267953	T	0.08370	3.1	4.13	1.26	0.21427	.	0.761453	0.12106	N	0.499051	T	0.03477	0.0100	N	0.12746	0.255	0.25742	N	0.985149	B	0.06786	0.001	B	0.06405	0.002	T	0.46400	-0.9194	10	0.12103	T	0.63	-26.16	2.6027	0.04870	0.2993:0.1323:0.0:0.5684	.	159	Q16548	B2LA1_HUMAN	D	159	ENSP00000267953:E159D	ENSP00000267953:E159D	E	-	3	2	BCL2A1	78040515	0.590000	0.26815	0.647000	0.29507	0.348000	0.29142	0.476000	0.22180	0.571000	0.29365	0.454000	0.30748	GAA		0.348	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		A	80253460	T	A	80253460	3	1	588	1	0	0	0	0	1	0	0	0	1366	1606	56	5	54	5	BCL2A1	15	80253460	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	23329239	80253460	22277932	57	32156											
LINS1	55180	hgsc.bcm.edu;ucsc.edu	37	15	101112168	101112168	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr15:101112168delA	ENST00000314742.8	-	6	1547	c.1325delT	c.(1324-1326)ttcfs	p.F442fs	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	442										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTGTTCTATGAAAACCCGAGA	0.443																																																0													97	94	95					15																	101112168		2203	4300	6503	SO:0001589	frameshift_variant	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1325delT	15.37:g.101112168delA	ENSP00000318423:p.Phe442fs		Q96FW2|Q9NVQ3	Frame_Shift_Del	DEL	ENST00000314742.8	37	CCDS10385.1																																																																																				0.443	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		-	101112168	A	-	101112168	7	5	588	1	0	1	0	1	0	0	0	0	8820	246	9	0	956	0	LINS1	15	101112168	Frame_Shift_Del	DEL	A	TCGA-CZ-5457-01A-01D-1501-10	20858708	101112168	1419224	58	32157											
IFT140	9742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1616280	1616280	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:1616280G>A	ENST00000426508.2	-	16	2146	c.1783C>T	c.(1783-1785)Cct>Tct	p.P595S	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	595					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.P595S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTGGAATCAGGGCTGTTGTCA	0.507																																																1	Substitution - Missense(1)	kidney(1)											111	104	106					16																	1616280		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1783C>T	16.37:g.1616280G>A	ENSP00000406012:p.Pro595Ser		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.337812	0.41398	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.67345	-0.26	5.29	5.29	0.74685	.	0.125171	0.53938	D	0.000041	T	0.77644	0.4161	M	0.77103	2.36	0.34077	D	0.659123	P;D	0.55385	0.916;0.971	P;P	0.56700	0.448;0.804	D	0.84160	0.0428	10	0.41790	T	0.15	.	14.5395	0.67982	0.0:0.0:0.8529:0.1471	.	595;320	Q96RY7;B4DR58	IF140_HUMAN;.	S	595	ENSP00000406012:P595S	ENSP00000380562:P595S	P	-	1	0	IFT140	1556281	1.000000	0.71417	0.498000	0.27564	0.592000	0.36648	4.740000	0.62087	2.477000	0.83638	0.591000	0.81541	CCT		0.507	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		A	1616280	G	A	1616280	3	1	588	1	0	0	0	0	1	0	0	0	7558	1232	43	2	2669	2	IFT140	16	1616280	Missense_Mutation	SNP	G	TCGA-CZ-5457-01A-01D-1501-10		1616280	88738473	59	32158											
MKL2	57496	broad.mit.edu;ucsc.edu	37	16	14355166	14355166	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:14355166C>G	ENST00000341243.5	+	15	3132	c.3132C>G	c.(3130-3132)aaC>aaG	p.N1044K	MKL2_ENST00000574045.1_Missense_Mutation_p.N1005K|MKL2_ENST00000571589.1_Missense_Mutation_p.N1055K|MKL2_ENST00000318282.5_Missense_Mutation_p.N1005K			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	1044					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.N1005K(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGACTCAAACTTGGACAACA	0.537																																																1	Substitution - Missense(1)	kidney(1)											116	91	100					16																	14355166		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.3132C>G	16.37:g.14355166C>G	ENSP00000345841:p.Asn1044Lys		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37		.	.	.	.	.	.	.	.	.	.	C	20.5	3.993428	0.74703	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.72	5.72	0.89469	.	0.284520	0.44902	D	0.000416	T	0.70072	0.3182	L	0.60455	1.87	0.46586	D	0.999116	B;D	0.71674	0.201;0.998	B;D	0.80764	0.036;0.994	T	0.67488	-0.5658	9	0.36615	T	0.2	-11.6701	12.1299	0.53936	0.0:0.9133:0.0:0.0867	.	1055;1005	B4DGT8;Q9ULH7-4	.;.	K	1005;1044	.	ENSP00000339086:N1005K	N	+	3	2	MKL2	14262667	1.000000	0.71417	0.846000	0.33378	0.996000	0.88848	5.513000	0.67037	2.698000	0.92095	0.591000	0.81541	AAC		0.537	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		G	14355166	C	G	14355166	3	3	588	1	0	0	0	0	1	0	0	0	9604	564	20	4	3073	4	MKL2	16	14355166	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	12738886	14355166	75999587	60	32159											
ERI2	112479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20810063	20810063	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:20810063C>T	ENST00000357967.4	-	9	1101	c.1059G>A	c.(1057-1059)atG>atA	p.M353I	ERI2_ENST00000563117.1_Missense_Mutation_p.M260I|ERI2_ENST00000569729.1_Intron|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000564349.1_Missense_Mutation_p.M260I|ERI2_ENST00000389345.5_Missense_Mutation_p.M88I	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	353							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.M353I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CTTGCTTTTGCATATAGATAG	0.383																																																1	Substitution - Missense(1)	kidney(1)											102	88	92					16																	20810063		692	1591	2283	SO:0001583	missense	112479			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.1059G>A	16.37:g.20810063C>T	ENSP00000350651:p.Met353Ile		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	C	6.036	0.374930	0.11409	.	.	ENSG00000196678	ENST00000357967;ENST00000389345	T;T	0.15834	2.43;2.39	5.86	-0.61	0.11604	.	1.586550	0.03135	N	0.165841	T	0.14013	0.0339	L	0.48362	1.52	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.25012	-1.0144	10	0.26408	T	0.33	0.1762	1.7231	0.02916	0.3179:0.3293:0.2057:0.1471	.	353	A8K979	ERI2_HUMAN	I	353;88	ENSP00000350651:M353I;ENSP00000373996:M88I	ENSP00000350651:M353I	M	-	3	0	ERI2	20717564	0.179000	0.23135	0.818000	0.32626	0.737000	0.42083	-0.119000	0.10676	0.292000	0.22492	0.655000	0.94253	ATG		0.383	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663		T	20810063	C	T	20810063	3	4	588	1	0	0	0	0	1	0	0	0	5230	710	25	2	1287	2	ERI2	16	20810063	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	6454897	20810063	69544690	61	32160											
N4BP1	9683	hgsc.bcm.edu;ucsc.edu	37	16	48595382	48595382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:48595382delA	ENST00000262384.3	-	2	1408	c.1172delT	c.(1171-1173)ttcfs	p.F391fs	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	391					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GTCTTCTTGGAATCTTTTATT	0.358																																																0													46	45	45					16																	48595382		1817	4072	5889	SO:0001589	frameshift_variant	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1172delT	16.37:g.48595382delA	ENSP00000262384:p.Phe391fs		A7MD49|Q2YDX1	Frame_Shift_Del	DEL	ENST00000262384.3	37	CCDS45479.1																																																																																				0.358	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		-	48595382	A	-	48595382	7	5	588	1	0	1	0	1	0	0	0	0	10111	246	9	0	1542	0	N4BP1	16	48595382	Frame_Shift_Del	DEL	A	TCGA-CZ-5457-01A-01D-1501-10	27785319	48595382	41759371	62	32161											
CES2	8824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66973125	66973125	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:66973125T>C	ENST00000317091.4	+	3	1463	c.479T>C	c.(478-480)cTa>cCa	p.L160P	CES2_ENST00000417689.1_Missense_Mutation_p.L160P	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	96					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.L160P(1)		breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	ACCAGGTGTCTACAGGACCTC	0.562																																					Ovarian(70;1230 1691 37888 38351)											1	Substitution - Missense(1)	kidney(1)											119	110	113					16																	66973125		2200	4300	6500	SO:0001583	missense	8824			BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"Carboxylesterases"	1864	protein-coding gene	gene with protein product		605278	"carboxylesterase 2 (intestine, liver)"			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.479T>C	16.37:g.66973125T>C	ENSP00000317842:p.Leu160Pro		A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	T	9.067	0.995875	0.19043	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.66638	-0.22;-0.22	5.36	1.93	0.25924	Carboxylesterase, type B (1);	0.503112	0.16698	N	0.203273	T	0.51126	0.1656	N	0.13043	0.29	0.52501	D	0.99995	B;B	0.33212	0.19;0.402	B;B	0.40375	0.327;0.168	T	0.42430	-0.9452	10	0.49607	T	0.09	.	7.9538	0.30029	0.0:0.2435:0.0:0.7565	.	96;160	O00748;A8K367	EST2_HUMAN;.	P	160	ENSP00000394452:L160P;ENSP00000317842:L160P	ENSP00000317842:L160P	L	+	2	0	CES2	65530626	0.303000	0.24463	0.605000	0.28930	0.013000	0.08279	1.585000	0.36600	0.140000	0.18849	-0.256000	0.11100	CTA		0.562	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		C	66973125	T	C	66973125	3	2	588	1	0	0	0	0	1	0	0	0	3272	1522	53	3	489	3	CES2	16	66973125	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	18377743	66973125	23381628	63	32162											
CDH3	1001	broad.mit.edu;hgsc.bcm.edu	37	16	68721619	68721619	+	Missense_Mutation	SNP	C	C	T	rs145851551		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr16:68721619C>T	ENST00000264012.4	+	12	2319	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M	CDH3_ENST00000581171.1_Missense_Mutation_p.T537M|CDH3_ENST00000429102.2_Missense_Mutation_p.T592M	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	592	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.T592M(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ATCTACTGGACGGCAGAGGTC	0.617																																																3	Unknown(2)|Substitution - Missense(1)	breast(2)|kidney(1)						C	MET/THR	1,4395	2.1+/-5.4	0,1,2197	98	72	81		1775	-1.3	0.4	16	dbSNP_134	81	0,8600		0,0,4300	yes	missense	CDH3	NM_001793.4	81	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	592/830	68721619	1,12995	2198	4300	6498	SO:0001583	missense	1001			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1775C>T	16.37:g.68721619C>T	ENSP00000264012:p.Thr592Met		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	C	2.927	-0.221796	0.06061	2.27E-4	0.0	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.61040	0.14;0.14	5.05	-1.26	0.09376	Cadherin (1);Cadherin-like (1);	0.837651	0.10049	N	0.722465	T	0.37758	0.1015	L	0.43152	1.355	0.18873	N	0.999986	P	0.35872	0.525	B	0.21708	0.036	T	0.21109	-1.0255	10	0.52906	T	0.07	.	3.4242	0.07405	0.2784:0.3137:0.0:0.4079	.	592	P22223	CADH3_HUMAN	M	592;592;537	ENSP00000398485:T592M;ENSP00000264012:T592M	ENSP00000264012:T592M	T	+	2	0	CDH3	67279120	0.000000	0.05858	0.430000	0.26722	0.115000	0.19883	-0.527000	0.06200	-0.147000	0.11254	-0.217000	0.12591	ACG		0.617	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		T	68721619	C	T	68721619	3	4	588	1	0	0	0	0	1	0	0	0	3113	536	19	1	1821	1	CDH3	16	68721619	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	1748494	68721619	21633134	64	32163											
METT10D	79066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	2323880	2323880	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:2323880T>G	ENST00000263092.6	-	10	1200	c.1073A>C	c.(1072-1074)aAa>aCa	p.K358T	METTL16_ENST00000538844.1_Missense_Mutation_p.K140T|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	358							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.K358T(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GGGAACTCGTTTATGCTGGAC	0.393																																																2	Substitution - Missense(2)	kidney(2)											57	57	57					17																	2323880		1837	4087	5924	SO:0001583	missense	0			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"methyltransferase 10 domain containing"	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1073A>C	17.37:g.2323880T>G	ENSP00000263092:p.Lys358Thr		D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253367	0.59212	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.51325	0.8;0.71	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	M	0.70275	2.135	0.80722	D	1	P	0.39044	0.656	B	0.39339	0.297	T	0.53865	-0.8378	10	0.46703	T	0.11	.	13.8075	0.63243	0.0:0.0:0.0:1.0	.	358	Q86W50	MET16_HUMAN	T	358;38;140	ENSP00000263092:K358T;ENSP00000443633:K140T	ENSP00000263092:K358T	K	-	2	0	METTL16	2270630	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.675000	0.84002	2.139000	0.66308	0.533000	0.62120	AAA		0.393	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		G	2323880	T	G	2323880	3	3	588	1	0	0	0	0	1	0	0	0	9492	1841	64	5	619	5	METT10D	17	2323880	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10		2323880	78871330	65	32164											
NUFIP2	57532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27613674	27613674	+	Silent	SNP	G	G	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:27613674G>T	ENST00000225388.4	-	2	1396	c.1338C>A	c.(1336-1338)atC>atA	p.I446I	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	446						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I446I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TCCCAGAAGAGATGGGTGTTA	0.423																																																1	Substitution - coding silent(1)	kidney(1)											82	82	82					17																	27613674		2203	4300	6503	SO:0001819	synonymous_variant	57532			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1338C>A	17.37:g.27613674G>T			A1L3A6|Q9P2M5	Silent	SNP	ENST00000225388.4	37	CCDS32600.1																																																																																				0.423	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		T	27613674	G	T	27613674	2	4	588	1	0	0	0	0	0	0	0	1	10751	932	33	4		4	NUFIP2	17	27613674	Silent	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	25289794	27613674	53581536	66	32165											
DLX3	1747	broad.mit.edu;hgsc.bcm.edu	37	17	48069215	48069215	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:48069215A>T	ENST00000434704.2	-	3	755	c.530T>A	c.(529-531)tTc>tAc	p.F177Y	DLX3_ENST00000512495.2_Missense_Mutation_p.F57Y	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	177					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F177Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCGGTTCTGGAACCAGATTTT	0.502																																																1	Substitution - Missense(1)	kidney(1)											70	68	69					17																	48069215		2203	4300	6503	SO:0001583	missense	1747				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.530T>A	17.37:g.48069215A>T	ENSP00000389870:p.Phe177Tyr		B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068337	0.76301	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.99719	-6.52;-6.52	4.38	4.38	0.52667	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98168	1.0450	10	0.56958	D	0.05	-30.4528	11.6118	0.51064	1.0:0.0:0.0:0.0	.	177	O60479	DLX3_HUMAN	Y	177;57	ENSP00000389870:F177Y;ENSP00000449976:F57Y	ENSP00000389870:F177Y	F	-	2	0	DLX3	45424214	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.139000	0.94554	1.850000	0.53721	0.459000	0.35465	TTC		0.502	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			T	48069215	A	T	48069215	3	4	588	1	0	0	0	0	1	0	0	0	4574	246	9	5	337	5	DLX3	17	48069215	Missense_Mutation	SNP	A	TCGA-CZ-5457-01A-01D-1501-10	20455541	48069215	33125995	67	32166											
CD300LB	124599	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72522164	72522164	+	Silent	SNP	G	G	T	rs111972938		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:72522164G>T	ENST00000392621.1	-	2	208	c.204C>A	c.(202-204)tcC>tcA	p.S68S	CD300LB_ENST00000314401.3_Silent_p.S68S	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	31	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S68S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GAACCGTCAGGGACCCCTGCT	0.542																																																1	Substitution - coding silent(1)	kidney(1)											131	126	128					17																	72522164		2203	4300	6503	SO:0001819	synonymous_variant	124599			AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.204C>A	17.37:g.72522164G>T			Q1EG73|Q8IX40|Q8N6D1	Silent	SNP	ENST00000392621.1	37	CCDS11700.1																																																																																				0.542	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		T	72522164	G	T	72522164	2	4	588	1	0	0	0	0	0	0	0	1	3001	1219	43	4		4	CD300LB	17	72522164	Silent	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	24452949	72522164	8673046	68	32167											
KCTD2	23510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73058235	73058235	+	Silent	SNP	C	C	G			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:73058235C>G	ENST00000322444.6	+	5	663	c.657C>G	c.(655-657)tcC>tcG	p.S219S	KCTD2_ENST00000581589.1_Silent_p.S20S	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	219					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)	p.S219S(1)		kidney(1)|lung(2)	3	all_lung(278;0.226)					TCGGATCTTCCTATAACTACG	0.428																																																1	Substitution - coding silent(1)	kidney(1)											148	131	137					17																	73058235		2203	4300	6503	SO:0001819	synonymous_variant	23510			BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"potassium channel tetramerisation domain containing 2"			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.657C>G	17.37:g.73058235C>G				Silent	SNP	ENST00000322444.6	37	CCDS32728.1																																																																																				0.428	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			G	73058235	C	G	73058235	2	3	588	1	0	0	0	0	0	0	0	1	8109	668	24	4		4	KCTD2	17	73058235	Silent	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	536071	73058235	8136975	69	32168											
RHBDF2	79651	broad.mit.edu;ucsc.edu	37	17	74468019	74468019	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:74468019A>T	ENST00000313080.4	-	19	2540	c.2267T>A	c.(2266-2268)gTg>gAg	p.V756E	RHBDF2_ENST00000389760.4_Missense_Mutation_p.V727E|RHBDF2_ENST00000591885.1_Missense_Mutation_p.V727E	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	756					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.V756E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CAGGAAGAGCACGATGGCCGA	0.632																																																1	Substitution - Missense(1)	kidney(1)											102	71	82					17																	74468019		2198	4287	6485	SO:0001583	missense	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2267T>A	17.37:g.74468019A>T	ENSP00000322775:p.Val756Glu		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810542	0.70797	.	.	ENSG00000129667	ENST00000313080;ENST00000389760	T;T	0.16597	2.33;2.33	4.52	4.52	0.55395	Peptidase S54, rhomboid domain (1);	0.219126	0.37219	N	0.002195	T	0.40119	0.1104	M	0.75264	2.295	0.58432	D	0.999993	D;D	0.63046	0.992;0.958	D;P	0.65684	0.937;0.823	T	0.36841	-0.9731	10	0.72032	D	0.01	-13.1691	14.0152	0.64519	1.0:0.0:0.0:0.0	.	756;727	Q6PJF5;Q6PJF5-2	RHDF2_HUMAN;.	E	756;727	ENSP00000322775:V756E;ENSP00000374410:V727E	ENSP00000322775:V756E	V	-	2	0	RHBDF2	71979614	1.000000	0.71417	0.991000	0.47740	0.446000	0.32137	7.304000	0.78882	1.924000	0.55735	0.383000	0.25322	GTG		0.632	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		T	74468019	A	T	74468019	3	4	588	1	0	0	0	0	1	0	0	0	13326	159	6	5	307	5	RHBDF2	17	74468019	Missense_Mutation	SNP	A	TCGA-CZ-5457-01A-01D-1501-10	1409784	74468019	6727191	70	32169											
SFRS2	6427	broad.mit.edu	37	17	74732524	74732524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:74732524G>A	ENST00000392485.2	-	2	557	c.385C>T	c.(385-387)Cga>Tga	p.R129*	MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000355954.3_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000508921.3_Nonsense_Mutation_p.R117*|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.R129*	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	129	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R129*(1)|p.R109*(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTCCGGGATCGGCTGCGGCGA	0.711			Mis		"MDS, CLL"																																		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	2	Substitution - Nonsense(2)	kidney(2)											34	35	35					17																	74732524		2202	4300	6502	SO:0001587	stop_gained	0			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.385C>T	17.37:g.74732524G>A	ENSP00000376276:p.Arg129*		B3KWD5|B4DN89|H0YG49	Nonsense_Mutation	SNP	ENST00000392485.2	37	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	G	36	5.829177	0.96996	.	.	ENSG00000161547	ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	.	.	.	4.68	1.33	0.21861	.	0.073617	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0558	0.42244	0.0:0.1338:0.589:0.2772	.	.	.	.	X	129;156;117;109	.	ENSP00000350877:R117X	R	-	1	2	SRSF2	72244119	1.000000	0.71417	0.589000	0.28718	0.920000	0.55202	2.703000	0.47110	0.021000	0.15133	0.467000	0.42956	CGA		0.711	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		A	74732524	G	A	74732524	4	1	588	1	0	0	0	0	0	1	0	0	14181	1124	39	1	284	1	SFRS2	17	74732524	Nonsense_Mutation	SNP	G	TCGA-CZ-5457-01A-01D-1501-10	264505	74732524	6462686	71	32170											
HGS	9146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79652641	79652641	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:79652641C>T	ENST00000329138.4	+	2	179	c.44C>T	c.(43-45)gCg>gTg	p.A15V	ARL16_ENST00000397498.4_5'Flank|ARL16_ENST00000573392.1_5'Flank|ARL16_ENST00000574938.1_5'Flank|ARL16_ENST00000576135.1_5'Flank|ARL16_ENST00000570561.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	15	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.A15V(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCAGACAAGGCGACCAGCCAG	0.602																																																1	Substitution - Missense(1)	kidney(1)											80	73	75					17																	79652641		2201	4300	6501	SO:0001583	missense	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.44C>T	17.37:g.79652641C>T	ENSP00000331201:p.Ala15Val		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	36	5.630852	0.96682	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.45668	0.89	5.48	5.48	0.80851	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.097268	0.64402	D	0.000001	T	0.70272	0.3205	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.75889	-0.3158	10	0.87932	D	0	-31.8148	18.3475	0.90327	0.0:1.0:0.0:0.0	.	15	O14964	HGS_HUMAN	V	15	ENSP00000331201:A15V	ENSP00000331201:A15V	A	+	2	0	HGS	77263046	1.000000	0.71417	0.963000	0.40424	0.953000	0.61014	7.025000	0.76449	2.573000	0.86826	0.655000	0.94253	GCG		0.602	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		T	79652641	C	T	79652641	3	4	588	1	0	0	0	0	1	0	0	0	7089	768	27	1	50	1	HGS	17	79652641	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	4920117	79652641	1542569	72	32171											
THOC4	10189	broad.mit.edu;hgsc.bcm.edu	37	17	79846407	79846407	+	Missense_Mutation	SNP	C	C	A	rs150564817		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr17:79846407C>A	ENST00000331204.4	-	4	596	c.570G>T	c.(568-570)agG>agT	p.R190S	ALYREF_ENST00000505490.2_Missense_Mutation_p.R197S|ANAPC11_ENST00000571570.1_5'Flank|ALYREF_ENST00000512673.1_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	190	Ala/Arg/Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R190S(1)									TCTGTGCAGGCCTCCGCTGTG	0.587																																																1	Substitution - Missense(1)	kidney(1)											39	40	40					17																	79846407		2203	4300	6503	SO:0001583	missense	0			AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"THO complex subunits", "RNA binding motif (RRM) containing"	19071	protein-coding gene	gene with protein product		604171	"THO complex 4"	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.570G>T	17.37:g.79846407C>A	ENSP00000331817:p.Arg190Ser		O43672	Missense_Mutation	SNP	ENST00000331204.4	37		.	.	.	.	.	.	.	.	.	.	T	19.27	3.794575	0.70452	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	T;T	0.74421	-0.84;-0.84	5.96	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.74467	2.265	0.41790	D	0.989863	P	0.38677	0.642	P	0.48334	0.574	T	0.67692	-0.5605	10	0.08599	T	0.76	.	9.566	0.39398	0.0:0.2589:0.0:0.7411	.	197	E9PB61	.	S	190;197	ENSP00000331817:R190S;ENSP00000421592:R197S	ENSP00000331817:R190S	R	-	3	2	THOC4	77439703	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	0.756000	0.26419	-0.041000	0.13558	-0.254000	0.11334	AGG		0.587	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005782		A	79846407	C	A	79846407	3	1	588	1	0	0	0	0	1	0	0	0	15872	738	26	4	215	4	THOC4	17	79846407	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	193766	79846407	1348803	73	32172											
PLEKHJ1	55111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2234235	2234235	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:2234235G>T	ENST00000589097.1	-	5	1347	c.234C>A	c.(232-234)ttC>ttA	p.F78L	PLEKHJ1_ENST00000589791.1_5'UTR|PLEKHJ1_ENST00000326631.2_Missense_Mutation_p.F78L|SF3A2_ENST00000221494.5_5'Flank|PLEKHJ1_ENST00000591099.2_Intron|PLEKHJ1_ENST00000587394.2_Missense_Mutation_p.F78L|MIR1227_ENST00000408484.1_RNA|PLEKHJ1_ENST00000587962.2_Missense_Mutation_p.F78L|PLEKHJ1_ENST00000586608.2_Intron			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	78	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.F78L(1)		endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCTCAATGAAGCCTGGGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											60	48	52					19																	2234235		2202	4300	6502	SO:0001583	missense	55111			AK001159	CCDS12083.1, CCDS74251.1	19p13.3	2013-01-10				ENSG00000104886		"Pleckstrin homology (PH) domain containing"	18211	protein-coding gene	gene with protein product	"guanine nucleotide releasing protein x"					11602354	Standard	XM_006722784		Approved	FLJ10297	uc002lvf.1	Q9NW61		ENST00000589097.1:c.234C>A	19.37:g.2234235G>T	ENSP00000465391:p.Phe78Leu		B3KUQ9|D6W604	Missense_Mutation	SNP	ENST00000589097.1	37	CCDS12083.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031120	0.35797	.	.	ENSG00000104886	ENST00000326631	T	0.77098	-1.07	4.05	3.0	0.34707	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	M	0.64404	1.975	0.54753	D	0.999988	B	0.33171	0.4	B	0.34873	0.191	T	0.64892	-0.6300	10	0.33940	T	0.23	-14.9065	7.4744	0.27368	0.2012:0.0:0.7988:0.0	.	78	Q9NW61	PKHJ1_HUMAN	L	78	ENSP00000318075:F78L	ENSP00000318075:F78L	F	-	3	2	PLEKHJ1	2185235	0.982000	0.34865	0.548000	0.28192	0.607000	0.37147	2.041000	0.41213	0.664000	0.31047	0.561000	0.74099	TTC		0.597	PLEKHJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451255.1	NM_018049		T	2234235	G	T	2234235	3	4	588	1	0	0	0	0	1	0	0	0	12081	1281	45	4	227	4	PLEKHJ1	19	2234235	Missense_Mutation	SNP	G	TCGA-CZ-5457-01A-01D-1501-10		2234235	56894748	74	32173											
SLC25A23	79085	broad.mit.edu;hgsc.bcm.edu	37	19	6444201	6444201	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:6444201A>T	ENST00000301454.4	-	9	1289	c.1183T>A	c.(1183-1185)Tac>Aac	p.Y395N	SLC25A23_ENST00000414491.2_Missense_Mutation_p.Y156N|SLC25A23_ENST00000601760.1_5'UTR|SLC25A23_ENST00000334510.5_Missense_Mutation_p.Y395N	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	395					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.Y395N(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GCCAGCGGGTAACTGGCTATC	0.667																																																1	Substitution - Missense(1)	kidney(1)											29	27	28					19																	6444201		2203	4300	6503	SO:0001583	missense	79085			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.1183T>A	19.37:g.6444201A>T	ENSP00000301454:p.Tyr395Asn		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.807314	0.90623	.	.	ENSG00000125648	ENST00000264088;ENST00000422102;ENST00000301454;ENST00000414491;ENST00000334510	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.04	5.04	0.67666	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91284	0.7252	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93106	0.6512	10	0.87932	D	0	-19.6809	13.7553	0.62933	1.0:0.0:0.0:0.0	.	156;395	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	N	442;96;395;156;395	ENSP00000264088:Y442N;ENSP00000301454:Y395N;ENSP00000408814:Y156N;ENSP00000334537:Y395N	ENSP00000264088:Y442N	Y	-	1	0	SLC25A23	6395201	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.848000	0.92172	1.900000	0.55004	0.379000	0.24179	TAC		0.667	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		T	6444201	A	T	6444201	3	4	588	1	0	0	0	0	1	0	0	0	14492	362	13	5	231	5	SLC25A23	19	6444201	Missense_Mutation	SNP	A	TCGA-CZ-5457-01A-01D-1501-10	4209966	6444201	52684782	75	32174											
MYO1F	4542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8595162	8595162	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:8595162C>T	ENST00000338257.8	-	21	2513	c.2246G>A	c.(2245-2247)cGg>cAg	p.R749Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	749	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R749Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CAGCTCGGGCCGCTCCTCCAG	0.622																																																1	Substitution - Missense(1)	kidney(1)											134	146	142					19																	8595162		2098	4200	6298	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2246G>A	19.37:g.8595162C>T	ENSP00000344871:p.Arg749Gln		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671537	0.47781	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.34275	1.37	5.45	4.42	0.53409	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	L	0.45228	1.405	0.53005	D	0.999969	B	0.32829	0.386	B	0.25884	0.064	T	0.04165	-1.0972	10	0.07482	T	0.82	.	13.3514	0.60603	0.0:0.9239:0.0:0.0761	.	749	O00160	MYO1F_HUMAN	Q	794;749	ENSP00000344871:R749Q	ENSP00000304899:R794Q	R	-	2	0	MYO1F	8501162	0.936000	0.31750	1.000000	0.80357	0.956000	0.61745	2.662000	0.46766	1.317000	0.45149	0.456000	0.33151	CGG		0.622	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			T	8595162	C	T	8595162	3	4	588	1	0	0	0	0	1	0	0	0	10075	652	23	1	1082	1	MYO1F	19	8595162	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	2150961	8595162	50533821	76	32175											
JUNB	3726	broad.mit.edu;hgsc.bcm.edu	37	19	12903494	12903494	+	Silent	SNP	C	C	T			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:12903494C>T	ENST00000302754.4	+	1	1185	c.909C>T	c.(907-909)ctC>ctT	p.L303L		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	303	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L303L(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						TGAAGACGCTCAAGGCCGAGA	0.672																																																1	Substitution - coding silent(1)	kidney(1)											20	21	20					19																	12903494		2193	4293	6486	SO:0001819	synonymous_variant	3726			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.909C>T	19.37:g.12903494C>T			Q96GH3	Silent	SNP	ENST00000302754.4	37	CCDS12280.1																																																																																				0.672	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		T	12903494	C	T	12903494	2	4	588	1	0	0	0	0	0	0	0	1	7972	813	29	2		2	JUNB	19	12903494	Silent	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	4308332	12903494	46225489	77	32176											
NPHS1	4868	hgsc.bcm.edu	37	19	36330419	36330420	+	Frame_Shift_Ins	INS	-	-	G	rs368639377|rs369410355		TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:36330419_36330420insG	ENST00000378910.5	-	21	2904_2905	c.2905_2906insC	c.(2905-2907)ctgfs	p.L969fs	NPHS1_ENST00000353632.6_Frame_Shift_Ins_p.L969fs	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	969	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCTGTGGCAGGCCCCCATCA	0.594																																																0																																										SO:0001589	frameshift_variant	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2906dupC	19.37:g.36330421_36330421dupG	ENSP00000368190:p.Leu969fs		A6NDH2|C3RX61	Frame_Shift_Ins	INS	ENST00000378910.5	37	CCDS32996.1																																																																																				0.594	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			G	36330420	-	G	36330419	7	5	588	1	0	1	1	0	0	0	0	0	10584	188	7	0	855	0	NPHS1	19	36330419	Frame_Shift_Ins	INS	-	TCGA-CZ-5457-01A-01D-1501-10	23426925	36330419	22798564	78	32177											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39034251	39034251	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:39034251C>A	ENST00000359596.3	+	86	11858	c.11858C>A	c.(11857-11859)gCc>gAc	p.A3953D	RYR1_ENST00000355481.4_Missense_Mutation_p.A3948D|RYR1_ENST00000360985.3_Missense_Mutation_p.A3948D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3953					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A3953D(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTCTCCAAAGCCATGTCGGTG	0.602																																																1	Substitution - Missense(1)	kidney(1)											94	89	90					19																	39034251		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11858C>A	19.37:g.39034251C>A	ENSP00000352608:p.Ala3953Asp		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055990	0.55325	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95377	-3.69;-3.69;-3.69	4.3	4.3	0.51218	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000005	D	0.97284	0.9112	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.98083	1.0405	10	0.87932	D	0	.	16.5433	0.84407	0.0:1.0:0.0:0.0	.	3948;3948;3953	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3953;3948;3948	ENSP00000352608:A3953D;ENSP00000347667:A3948D;ENSP00000354254:A3948D	ENSP00000347667:A3948D	A	+	2	0	RYR1	43726091	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.348000	0.79366	2.240000	0.73641	0.486000	0.48141	GCC		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	39034251	C	A	39034251	3	1	588	1	0	0	0	0	1	0	0	0	13774	739	26	4	12200	4	RYR1	19	39034251	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10	2703832	39034251	20094732	79	32178											
NAT14	57106	broad.mit.edu	37	19	55998035	55998035	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:55998035delG	ENST00000205194.4	+	3	636	c.333delG	c.(331-333)ctgfs	p.L111fs	NAT14_ENST00000587400.1_Intron|SSC5D_ENST00000587166.1_5'Flank|SSC5D_ENST00000389623.6_5'Flank|NAT14_ENST00000592719.1_Intron	NM_020378.3	NP_065111.1	Q8WUY8	NAT14_HUMAN	N-acetyltransferase 14 (GCN5-related, putative)	111	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of transcription, DNA-templated (GO:0045893)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|N-acetyltransferase activity (GO:0008080)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0527)		GTGGGGTCCTGGCTCTGGCCC	0.771																																																0													4	6	6					19																	55998035		1865	3706	5571	SO:0001589	frameshift_variant	57106			AB055059	CCDS12926.1	19q13.42	2011-11-25	2008-09-24		ENSG00000090971	ENSG00000090971			28918	protein-coding gene	gene with protein product	"K562 cells-derived leucine zipper-like protein 1"		"N-acetyltransferase 14"			10873651	Standard	NM_020378		Approved	KLP1	uc002qle.2	Q8WUY8		ENST00000205194.4:c.333delG	19.37:g.55998035delG	ENSP00000205194:p.Leu111fs		Q8TDY7|Q9NS72	Frame_Shift_Del	DEL	ENST00000205194.4	37	CCDS12926.1																																																																																				0.771	NAT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453339.1	NM_020378		-	55998035	G	-	55998035	7	5	588	1	0	1	0	1	0	0	0	0	10177	1335	47	0	339	0	NAT14	19	55998035	Frame_Shift_Del	DEL	G	TCGA-CZ-5457-01A-01D-1501-10	16963784	55998035	3130948	80	32179											
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57325755	57325755	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr19:57325755T>C	ENST00000326441.9	-	10	4418	c.4055A>G	c.(4054-4056)gAg>gGg	p.E1352G	PEG3_ENST00000598410.1_Missense_Mutation_p.E1228G|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1226G|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1352G|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1352	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E1352G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGATGAAGCTCCTTATGTTT	0.448																																																2	Substitution - Missense(2)	kidney(2)											56	55	55					19																	57325755		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4055A>G	19.37:g.57325755T>C	ENSP00000326581:p.Glu1352Gly		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.006708	0.35415	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.51817	0.69;0.69	4.26	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.479266	0.17691	N	0.165262	T	0.22627	0.0546	N	0.02802	-0.49	.	.	.	B;B;B	0.28820	0.224;0.002;0.002	B;B;B	0.28011	0.085;0.011;0.007	T	0.22661	-1.0210	9	0.56958	D	0.05	-17.6772	8.0218	0.30415	0.2212:0.0:0.0:0.7788	.	1228;1352;1287	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	G	1352	ENSP00000326581:E1352G;ENSP00000403051:E1352G	ENSP00000326581:E1352G	E	-	2	0	ZIM2	62017567	0.001000	0.12720	0.584000	0.28653	0.990000	0.78478	0.968000	0.29357	0.934000	0.37316	0.533000	0.62120	GAG		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			C	57325755	T	C	57325755	3	2	588	1	0	0	0	0	1	0	0	0	11722	1551	54	3	715	3	PEG3	19	57325755	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	1327720	57325755	1803228	81	32180											
SAMHD1	25939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	35547877	35547877	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr20:35547877T>C	ENST00000262878.4	-	7	941	c.742A>G	c.(742-744)Aat>Gat	p.N248D	SAMHD1_ENST00000373694.5_Missense_Mutation_p.N33D	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	248	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.N248D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTAATTCCATTAGAATTAATA	0.383																																																1	Substitution - Missense(1)	kidney(1)											97	91	93					20																	35547877		2203	4300	6503	SO:0001583	missense	25939			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.742A>G	20.37:g.35547877T>C	ENSP00000262878:p.Asn248Asp		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.825347	0.90955	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.90385	-2.66;-2.63	5.82	5.82	0.92795	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	M	0.63208	1.945	0.80722	D	1	D	0.56287	0.975	P	0.62184	0.899	D	0.94140	0.7396	10	0.62326	D	0.03	-36.2618	15.86	0.79014	0.0:0.0:0.0:1.0	.	248	Q9Y3Z3	SAMH1_HUMAN	D	248;33	ENSP00000262878:N248D;ENSP00000362798:N33D	ENSP00000262878:N248D	N	-	1	0	SAMHD1	34981291	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.614000	0.82996	2.227000	0.72691	0.455000	0.32223	AAT		0.383	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		C	35547877	T	C	35547877	3	2	588	1	0	0	0	0	1	0	0	0	13834	1754	61	3	1178	3	SAMHD1	20	35547877	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10		35547877	27477643	82	32181											
CHEK2	11200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	29121349	29121349	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr22:29121349A>C	ENST00000405598.1	-	4	517	c.326T>G	c.(325-327)gTg>gGg	p.V109G	CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.V109G|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.V152G|CHEK2_ENST00000404276.1_Missense_Mutation_p.V109G|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.V109G|CHEK2_ENST00000328354.6_Missense_Mutation_p.V109G|CHEK2_ENST00000402731.1_Missense_Mutation_p.V109G|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	109					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.V109G(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTTGTCATTCACACATTCTGT	0.353			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	1	Substitution - Missense(1)	kidney(1)											138	129	132					22																	29121349		2203	4300	6503	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.326T>G	22.37:g.29121349A>C	ENSP00000386087:p.Val109Gly		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.371713	0.61624	.	.	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	D;D;D;D;D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.71	5.71	0.89125	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.397572	0.29225	N	0.012768	D	0.85261	0.5656	L	0.50333	1.59	0.58432	D	0.999998	P;P;P;B;P	0.48764	0.915;0.839;0.893;0.415;0.823	B;B;B;B;B	0.41088	0.275;0.205;0.347;0.184;0.333	T	0.83308	-0.0024	10	0.15952	T	0.53	-4.8565	15.1629	0.72798	1.0:0.0:0.0:0.0	.	109;109;109;109;152	O96017-7;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	G	109;109;109;109;109;152;109;109;140;119	ENSP00000329012:V109G;ENSP00000372007:V109G;ENSP00000329178:V109G;ENSP00000385747:V109G;ENSP00000386087:V109G;ENSP00000372023:V152G;ENSP00000384835:V109G;ENSP00000397478:V109G;ENSP00000408065:V140G;ENSP00000381099:V119G	ENSP00000329178:V109G	V	-	2	0	CHEK2	27451349	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	3.822000	0.55708	2.180000	0.69256	0.377000	0.23210	GTG		0.353	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		C	29121349	A	C	29121349	3	2	588	1	0	0	0	0	1	0	0	0	3337	159	6	5	1357	5	CHEK2	22	29121349	Missense_Mutation	SNP	A	TCGA-CZ-5457-01A-01D-1501-10		29121349	22183217	83	32182											
RPS19BP1	91582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	39928457	39928457	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chr22:39928457T>C	ENST00000334678.3	-	2	240	c.124A>G	c.(124-126)Att>Gtt	p.I42V		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	42						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)	p.I42V(1)		endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					TGGGCCTGAATTGCCTTCGTC	0.642																																																1	Substitution - Missense(1)	kidney(1)											70	64	66					22																	39928457		2203	4300	6503	SO:0001583	missense	91582			BC037573	CCDS13997.1	22q13.1	2006-03-17			ENSG00000187051	ENSG00000187051			28749	protein-coding gene	gene with protein product		610225				16289379	Standard	NM_194326		Approved	MGC52010, FLJ21770	uc003ayb.3	Q86WX3	OTTHUMG00000151101	ENST00000334678.3:c.124A>G	22.37:g.39928457T>C	ENSP00000333948:p.Ile42Val		B0QY96|Q5JZA1	Missense_Mutation	SNP	ENST00000334678.3	37	CCDS13997.1	.	.	.	.	.	.	.	.	.	.	T	4.483	0.089540	0.08632	.	.	ENSG00000187051	ENST00000334678	T	0.40225	1.04	5.44	-2.42	0.06542	.	0.988254	0.08248	N	0.975025	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.15925	-1.0420	10	0.46703	T	0.11	-17.2928	1.8998	0.03265	0.1261:0.3063:0.1299:0.4377	.	42	Q86WX3	AROS_HUMAN	V	42	ENSP00000333948:I42V	ENSP00000333948:I42V	I	-	1	0	RPS19BP1	38258403	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	-0.053000	0.11846	-0.562000	0.06086	0.459000	0.35465	ATT		0.642	RPS19BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321307.1	NM_194326		C	39928457	T	C	39928457	3	2	588	1	0	0	0	0	1	0	0	0	13636	1493	52	3	298	3	RPS19BP1	22	39928457	Missense_Mutation	SNP	T	TCGA-CZ-5457-01A-01D-1501-10	10807108	39928457	11376109	84	32183											
ATRX	546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	76875909	76875909	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5457-01A-01D-1501-10	TCGA-CZ-5457-11A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	4c5e0bb3-90ce-4942-aa93-80ab4bfd9fb2	a9a305ba-8696-4646-8ab6-856a7572854f	g.chrX:76875909C>A	ENST00000373344.5	-	20	5440	c.5226G>T	c.(5224-5226)agG>agT	p.R1742S	ATRX_ENST00000395603.3_Missense_Mutation_p.R1704S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1742	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		R -> K (in ATRX; atypical; patients presents spastic paraplegia at birth). {ECO:0000269|PubMed:10417298}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1742S(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAATAATCCTCCTCCTTGATC	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - Missense(2)|Unknown(1)	kidney(2)|bone(1)											85	72	76					X																	76875909		2202	4293	6495	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5226G>T	X.37:g.76875909C>A	ENSP00000362441:p.Arg1742Ser		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.394317|3.394317	0.62066|0.62066	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|D;D	.|0.92965	.|-3.14;-3.14	4.57|4.57	3.7|3.7	0.42460|0.42460	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94414|0.94414	0.8203|0.8203	M|M	0.73372|0.73372	2.23|2.23	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.996;1.0	.|D;D	.|0.91635	.|0.99;0.999	D|D	0.93112|0.93112	0.6517|0.6517	5|10	.|0.87932	.|D	.|0	-8.0158|-8.0158	6.9983|6.9983	0.24795|0.24795	0.0:0.6856:0.0:0.3144|0.0:0.6856:0.0:0.3144	.|.	.|1704;1742	.|P46100-4;P46100	.|.;ATRX_HUMAN	V|S	31|1742;1704	.|ENSP00000362441:R1742S;ENSP00000378967:R1704S	.|ENSP00000362441:R1742S	G|R	-|-	2|3	0|2	ATRX|ATRX	76762565|76762565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.348000|2.348000	0.44045|0.44045	0.710000|0.710000	0.31997|0.31997	0.600000|0.600000	0.82982|0.82982	GGA|AGG		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		A	76875909	C	A	76875909	3	1	588	1	0	0	0	0	1	0	0	0	1208	854	30	4	2316	4	ATRX	23	76875909	Missense_Mutation	SNP	C	TCGA-CZ-5457-01A-01D-1501-10		76875909	78394651	85	32184											
VHL	7428	hgsc.bcm.edu	37	3	10183800	10183800	+	Missense_Mutation	SNP	A	A	T	rs143985153		TCGA-CZ-5457-01A-01W-1528-10	TCGA-CZ-5457-11A-01W-1528-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq	.		PacBio RS	c1ee1be5-2a5d-44ac-baa2-ccb30e862ae0	699d8dc1-8145-4fa5-b480-c970b5ed6138	g.chr3:10183800A>T	ENST00000256474.2	+	1	1109	c.269A>T	c.(268-270)aAc>aTc	p.N90I	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.N90I	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	90					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N90I(4)|p.N90fs*69(2)|p.R60fs*35(1)|p.N90fs*67(1)|p.N90del(1)|p.V84_E94>E(1)|p.L89fs*67(1)|p.V84fs*69(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTATGGCTCAACTTCGACGGC	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	12	Deletion - Frameshift(6)|Substitution - Missense(4)|Complex - deletion inframe(1)|Deletion - In frame(1)	kidney(12)	GRCh37	CI994273|CM004284	VHL	I|M	rs143985153						13	15	14					3																	10183800		2082	4138	6220	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.269A>T	3.37:g.10183800A>T	ENSP00000256474:p.Asn90Ile		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.015731	0.93404	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99818	-6.92;-6.92	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.100679	0.64402	D	0.000002	D	0.99722	0.9892	M	0.73217	2.22	0.41511	D	0.988349	D;D	0.89917	0.994;1.0	P;D	0.97110	0.906;1.0	D	0.97131	0.9818	10	0.87932	D	0	-7.7147	12.8448	0.57823	1.0:0.0:0.0:0.0	.	90;90	P40337-2;P40337	.;VHL_HUMAN	I	90	ENSP00000256474:N90I;ENSP00000344757:N90I	ENSP00000256474:N90I	N	+	2	0	VHL	10158800	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.660000	0.68018	1.920000	0.55613	0.450000	0.29827	AAC		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183800	A	T	10183800	3	4	589	1	0	0	0	0	1	0	0	0	17167	43	2	5	271	5	VHL	3	10183800	Missense_Mutation	SNP	A	TCGA-CZ-5457-01A-01W-1528-10		10183800	187838630	1	32185											
SPTA1	6708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158644146	158644146	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr1:158644146A>T	ENST00000368147.4	-	10	1503	c.1323T>A	c.(1321-1323)caT>caA	p.H441Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	441					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.H441Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGAGGCTTCATGATTGGCAT	0.378																																																1	Substitution - Missense(1)	kidney(1)											206	194	197					1																	158644146		1889	4107	5996	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1323T>A	1.37:g.158644146A>T	ENSP00000357129:p.His441Gln		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.782153	0.70222	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37915	1.17;1.17	5.28	2.51	0.30379	.	0.000000	0.33180	N	0.005187	T	0.46737	0.1408	M	0.85462	2.755	0.38791	D	0.954977	D	0.89917	1.0	D	0.85130	0.997	T	0.48969	-0.8987	10	0.54805	T	0.06	.	6.8104	0.23801	0.656:0.0:0.344:0.0	.	441	P02549	SPTA1_HUMAN	Q	441	ENSP00000357130:H441Q;ENSP00000357129:H441Q	ENSP00000357129:H441Q	H	-	3	2	SPTA1	156910770	0.746000	0.28272	0.996000	0.52242	0.962000	0.63368	-0.191000	0.09601	0.298000	0.22638	0.533000	0.62120	CAT		0.378	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158644146	A	T	158644146	3	4	590	1	0	0	0	0	1	0	0	0	15121	214	8	5	6108	5	SPTA1	1	158644146	Missense_Mutation	SNP	A	TCGA-CZ-5458-01A-01D-1501-10		158644146	90606475	1	32186											
CRB1	23418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197411309	197411309	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr1:197411309A>C	ENST00000367400.3	+	11	4027	c.3892A>C	c.(3892-3894)Att>Ctt	p.I1298L	RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000538660.1_Missense_Mutation_p.I762L|CRB1_ENST00000544212.1_Missense_Mutation_p.I779L|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.I1274L|CRB1_ENST00000367399.2_Missense_Mutation_p.I1186L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1298	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I1298L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGAAAAGGACATTGATGAGTG	0.458																																																1	Substitution - Missense(1)	kidney(1)											294	281	286					1																	197411309		2203	4300	6503	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3892A>C	1.37:g.197411309A>C	ENSP00000356370:p.Ile1298Leu		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.997444	0.35226	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000448952	D;D;D;D;D;D	0.96554	-2.23;-2.23;-2.23;-2.23;-2.23;-4.05	5.36	0.386	0.16254	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.91653	0.7362	L	0.38531	1.155	0.26403	N	0.97639	B;B;P;B	0.36438	0.006;0.441;0.553;0.103	B;B;B;B	0.32724	0.005;0.143;0.151;0.05	T	0.81970	-0.0689	9	0.30854	T	0.27	.	10.2968	0.43629	0.5718:0.0:0.4282:0.0	.	762;1274;1186;1298	B7Z5T2;F5H0L2;P82279-3;P82279	.;.;.;CRUM1_HUMAN	L	1274;762;1298;1186;779;4	ENSP00000438786:I1274L;ENSP00000438091:I762L;ENSP00000356370:I1298L;ENSP00000356369:I1186L;ENSP00000444556:I779L;ENSP00000395407:I4L	ENSP00000356369:I1186L	I	+	1	0	CRB1	195677932	0.593000	0.26840	0.071000	0.20095	0.934000	0.57294	0.263000	0.18478	-0.180000	0.10637	0.482000	0.46254	ATT		0.458	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		C	197411309	A	C	197411309	3	2	590	1	0	0	0	0	1	0	0	0	3850	217	8	5	3934	5	CRB1	1	197411309	Missense_Mutation	SNP	A	TCGA-CZ-5458-01A-01D-1501-10	38767163	197411309	51839312	2	32187											
NUAK2	81788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205275383	205275383	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr1:205275383G>T	ENST00000367157.3	-	5	749	c.623C>A	c.(622-624)aCa>aAa	p.T208K		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.T208K(2)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCACAGAATGTCTGCAGGAA	0.577																																																2	Substitution - Missense(2)	kidney(2)											114	110	111					1																	205275383		2203	4300	6503	SO:0001583	missense	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.623C>A	1.37:g.205275383G>T	ENSP00000356125:p.Thr208Lys			Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316375	0.95655	.	.	ENSG00000163545	ENST00000367157	T	0.27557	1.66	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000291	T	0.63105	0.2483	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67581	-0.5634	10	0.87932	D	0	.	19.5147	0.95159	0.0:0.0:1.0:0.0	.	208	Q9H093	NUAK2_HUMAN	K	208	ENSP00000356125:T208K	ENSP00000356125:T208K	T	-	2	0	NUAK2	203542006	1.000000	0.71417	0.966000	0.40874	0.941000	0.58515	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	ACA		0.577	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		T	205275383	G	T	205275383	3	4	590	1	0	0	0	0	1	0	0	0	10715	1377	48	4	1275	4	NUAK2	1	205275383	Missense_Mutation	SNP	G	TCGA-CZ-5458-01A-01D-1501-10	7864074	205275383	43975238	3	32188											
SLC1A4	6509	broad.mit.edu	37	2	65217245	65217245	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr2:65217245G>C	ENST00000234256.3	+	1	711	c.468G>C	c.(466-468)gaG>gaC	p.E156D	SLC1A4_ENST00000493121.1_Intron|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	156					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)	p.E156D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TGGGGCTGGAGGACTCGGGGC	0.652																																																1	Substitution - Missense(1)	kidney(1)											23	24	24					2																	65217245		2202	4300	6502	SO:0001583	missense	6509				CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.468G>C	2.37:g.65217245G>C	ENSP00000234256:p.Glu156Asp		B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	G	8.274	0.814026	0.16537	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.59224	0.28	4.59	-0.731	0.11151	.	0.317981	0.37955	N	0.001872	T	0.27765	0.0683	N	0.12502	0.225	0.27693	N	0.946037	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04307	-1.0961	10	0.30854	T	0.27	-7.0673	0.7864	0.01049	0.2855:0.1526:0.3866:0.1754	.	156;156	P43007;B2R7N6	SATT_HUMAN;.	D	76;156	ENSP00000234256:E156D	ENSP00000234256:E156D	E	+	3	2	SLC1A4	65070749	0.086000	0.21541	0.053000	0.19242	0.555000	0.35460	-0.238000	0.08977	-0.241000	0.09681	0.555000	0.69702	GAG		0.652	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		C	65217245	G	C	65217245	3	2	590	1	0	0	0	0	1	0	0	0	14440	991	35	4	470	4	SLC1A4	2	65217245	Missense_Mutation	SNP	G	TCGA-CZ-5458-01A-01D-1501-10		65217245	177982128	4	32189											
UNC50	25972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	99232913	99232913	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr2:99232913C>G	ENST00000357765.2	+	5	712	c.560C>G	c.(559-561)aCa>aGa	p.T187R	UNC50_ENST00000409975.1_Missense_Mutation_p.T204R|UNC50_ENST00000409347.1_Missense_Mutation_p.T204R	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	187					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)	p.T187R(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTGACAGACACATTTATTGGA	0.363																																																1	Substitution - Missense(1)	kidney(1)											193	189	190					2																	99232913		2203	4300	6503	SO:0001583	missense	25972				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.560C>G	2.37:g.99232913C>G	ENSP00000350409:p.Thr187Arg		D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	CCDS2035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.79|12.79	2.044541|2.044541	0.36085|0.36085	.|.	.|.	ENSG00000115446|ENSG00000115446	ENST00000393493|ENST00000357765;ENST00000409975;ENST00000409347	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.214580	.|0.50627	.|D	.|0.000108	T|T	0.45094|0.45094	0.1325|0.1325	N|N	0.14661|0.14661	0.345|0.345	0.43195|0.43195	D|D	0.995036|0.995036	.|B	.|0.24043	.|0.096	.|B	.|0.35607	.|0.206	T|T	0.34601|0.34601	-0.9822|-0.9822	5|9	.|0.24483	.|T	.|0.36	-4.2649|-4.2649	13.8559|13.8559	0.63527|0.63527	0.0:0.8474:0.1526:0.0|0.0:0.8474:0.1526:0.0	.|.	.|187	.|Q53HI1	.|UNC50_HUMAN	D|R	54|187;204;204	.|.	.|ENSP00000350409:T187R	H|T	+|+	1|2	0|0	UNC50|UNC50	98599345|98599345	0.997000|0.997000	0.39634|0.39634	0.979000|0.979000	0.43373|0.43373	0.924000|0.924000	0.55760|0.55760	3.449000|3.449000	0.52950|0.52950	2.773000|2.773000	0.95371|0.95371	0.585000|0.585000	0.79938|0.79938	CAT|ACA		0.363	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		G	99232913	C	G	99232913	3	3	590	1	0	0	0	0	1	0	0	0	16995	478	17	4	574	4	UNC50	2	99232913	Missense_Mutation	SNP	C	TCGA-CZ-5458-01A-01D-1501-10	34015668	99232913	143966460	5	32190											
RNF25	64320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219532832	219532832	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr2:219532832G>A	ENST00000295704.2	-	4	697	c.257C>T	c.(256-258)cCc>cTc	p.P86L		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	86	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P86L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGTCCTCGGGGATTTCGGAT	0.522																																																1	Substitution - Missense(1)	kidney(1)											217	231	226					2																	219532832		2203	4300	6503	SO:0001583	missense	64320				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.257C>T	2.37:g.219532832G>A	ENSP00000295704:p.Pro86Leu		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781898	0.90282	.	.	ENSG00000163481	ENST00000295704	T	0.22134	1.97	5.25	5.25	0.73442	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36261	-0.9755	10	0.54805	T	0.06	-10.987	19.0937	0.93240	0.0:0.0:1.0:0.0	.	86	Q96BH1	RNF25_HUMAN	L	86	ENSP00000295704:P86L	ENSP00000295704:P86L	P	-	2	0	RNF25	219241076	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.126000	0.89592	2.753000	0.94483	0.456000	0.33151	CCC		0.522	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		A	219532832	G	A	219532832	3	1	590	1	0	0	0	0	1	0	0	0	13491	1232	43	2	1150	2	RNF25	2	219532832	Missense_Mutation	SNP	G	TCGA-CZ-5458-01A-01D-1501-10	120299919	219532832	23666541	6	32191											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188240	10188240	+	Missense_Mutation	SNP	T	T	A	rs5030649		TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr3:10188240T>A	ENST00000256474.2	+	2	1223	c.383T>A	c.(382-384)cTt>cAt	p.L128H	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	128	Involved in binding to CCT complex.		L -> F (in VHLD; type II).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L128H(4)|p.L128P(4)|p.L128R(2)|p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACGATGGGCTTCTGGTTAAC	0.488		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Substitution - Missense(10)|Deletion - Frameshift(1)	kidney(11)	GRCh37	CM040270	VHL	M							204	188	194					3																	10188240		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.383T>A	3.37:g.10188240T>A	ENSP00000256474:p.Leu128His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697069	0.48202	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99848	-7.14	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.070012	0.64402	D	0.000019	D	0.99739	0.9897	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97011	0.9736	10	0.87932	D	0	-11.7092	13.0887	0.59156	0.0:0.0:0.0:1.0	.	128	P40337	VHL_HUMAN	H	128;46	ENSP00000256474:L128H	ENSP00000256474:L128H	L	+	2	0	VHL	10163240	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	5.965000	0.70387	2.047000	0.60756	0.460000	0.39030	CTT		0.488	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10188240	T	A	10188240	3	1	590	1	0	0	0	0	1	0	0	0	17167	1609	56	5	389	5	VHL	3	10188240	Missense_Mutation	SNP	T	TCGA-CZ-5458-01A-01D-1501-10		10188240	187834190	7	32192											
NBEAL2	23218	broad.mit.edu;ucsc.edu	37	3	47037324	47037324	+	Silent	SNP	C	C	G			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr3:47037324C>G	ENST00000450053.3	+	14	2198	c.2019C>G	c.(2017-2019)gcC>gcG	p.A673A	NBEAL2_ENST00000292309.5_Silent_p.A673A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	673					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.A234A(1)|p.A673A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTCCTTTGCCGACTCTGCCT	0.577																																																2	Substitution - coding silent(2)	kidney(2)											88	102	97					3																	47037324		2090	4213	6303	SO:0001819	synonymous_variant	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2019C>G	3.37:g.47037324C>G			O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	9.151	1.016260	0.19355	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.94	1.47	0.22746	.	.	.	.	.	T	0.53286	0.1787	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40079	-0.9582	4	.	.	.	.	6.0313	0.19681	0.0:0.6431:0.1424:0.2144	.	.	.	.	R	145	.	.	P	+	2	0	NBEAL2	47012328	0.004000	0.15560	0.998000	0.56505	0.997000	0.91878	-0.824000	0.04438	0.086000	0.17137	0.655000	0.94253	CCG		0.577	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		G	47037324	C	G	47037324	2	3	590	1	0	0	0	0	0	0	0	1	10191	639	23	4		4	NBEAL2	3	47037324	Silent	SNP	C	TCGA-CZ-5458-01A-01D-1501-10	36849084	47037324	150985106	8	32193											
SLC35A5	55032	broad.mit.edu;ucsc.edu	37	3	112300127	112300127	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr3:112300127A>G	ENST00000492406.1	+	6	1446	c.1163A>G	c.(1162-1164)gAa>gGa	p.E388G	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	388					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)	p.E388G(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCTAGGCAAGAAAGGATCCGA	0.448																																																1	Substitution - Missense(1)	kidney(1)											46	51	49					3																	112300127		2182	4240	6422	SO:0001583	missense	55032			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"Solute carriers"	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.1163A>G	3.37:g.112300127A>G	ENSP00000417654:p.Glu388Gly		D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	A	7.227	0.598579	0.13939	.	.	ENSG00000138459	ENST00000492406	T	0.47869	0.83	5.77	5.77	0.91146	.	0.178864	0.64402	D	0.000015	T	0.42921	0.1224	M	0.63843	1.955	0.53005	D	0.999966	P	0.38922	0.651	B	0.30943	0.122	T	0.37314	-0.9711	10	0.22109	T	0.4	-6.7776	16.3892	0.83528	1.0:0.0:0.0:0.0	.	388	Q9BS91	S35A5_HUMAN	G	388	ENSP00000417654:E388G	ENSP00000417654:E388G	E	+	2	0	SLC35A5	113782817	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.592000	0.67543	2.330000	0.79161	0.477000	0.44152	GAA		0.448	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		G	112300127	A	G	112300127	3	3	590	1	0	0	0	0	1	0	0	0	14580	246	9	3	1181	3	SLC35A5	3	112300127	Missense_Mutation	SNP	A	TCGA-CZ-5458-01A-01D-1501-10	65262803	112300127	85722303	9	32194											
TRA2B	6434	broad.mit.edu;ucsc.edu	37	3	185643314	185643314	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr3:185643314G>C	ENST00000453386.2	-	3	546	c.271C>G	c.(271-273)Cgt>Ggt	p.R91G	TRA2B_ENST00000471134.1_5'Flank|TRA2B_ENST00000382191.4_De_novo_Start_OutOfFrame	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	91	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R91G(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TGCCGTCTACGATAATCTCGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											128	113	118					3																	185643314		2203	4300	6503	SO:0001583	missense	6434			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.271C>G	3.37:g.185643314G>C	ENSP00000416959:p.Arg91Gly		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502847	0.64298	.	.	ENSG00000136527	ENST00000453386	T	0.22539	1.95	6.17	5.28	0.74379	.	0.052689	0.85682	D	0.000000	T	0.23649	0.0572	M	0.80616	2.505	0.80722	D	1	P;P	0.42584	0.56;0.784	B;B	0.31390	0.129;0.129	T	0.09907	-1.0653	10	0.29301	T	0.29	-3.4995	13.4677	0.61266	0.0:0.0:0.7156:0.2844	.	91;91	B2RDQ3;P62995	.;TRA2B_HUMAN	G	91	ENSP00000416959:R91G	ENSP00000416959:R91G	R	-	1	0	TRA2B	187126008	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.483000	0.66838	1.575000	0.49775	0.655000	0.94253	CGT		0.522	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		C	185643314	G	C	185643314	3	2	590	1	0	0	0	0	1	0	0	0	16439	1058	37	4	623	4	TRA2B	3	185643314	Missense_Mutation	SNP	G	TCGA-CZ-5458-01A-01D-1501-10	73343187	185643314	12379116	10	32195											
ETF1	2107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137848455	137848455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr5:137848455G>A	ENST00000360541.5	-	6	951	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	ETF1_ENST00000499810.2_Nonsense_Mutation_p.Q211*|ETF1_ENST00000503014.1_Nonsense_Mutation_p.Q230*	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	244					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.Q244*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTACTTACCTGATCAAACATA	0.403																																																1	Substitution - Nonsense(1)	kidney(1)											64	62	63					5																	137848455		2203	4300	6503	SO:0001587	stop_gained	2107			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.730C>T	5.37:g.137848455G>A	ENSP00000353741:p.Gln244*		B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Nonsense_Mutation	SNP	ENST00000360541.5	37	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815293	0.90790	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	5.38	5.38	0.77491	.	0.051637	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-4.2867	18.762	0.91855	0.0:0.0:1.0:0.0	.	.	.	.	X	211;244;230	.	ENSP00000353741:Q244X	Q	-	1	0	ETF1	137876354	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.634000	0.98435	2.515000	0.84797	0.655000	0.94253	CAG		0.403	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		A	137848455	G	A	137848455	4	1	590	1	0	0	0	0	0	1	0	0	5270	1299	45	2	607	2	ETF1	5	137848455	Nonsense_Mutation	SNP	G	TCGA-CZ-5458-01A-01D-1501-10		137848455	43066805	11	32196											
EYS	346007	hgsc.bcm.edu;ucsc.edu	37	6	64436568	64436568	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr6:64436568A>G	ENST00000370621.3	-	43	8666	c.8140T>C	c.(8140-8142)Tcc>Ccc	p.S2714P	EYS_ENST00000503581.1_Missense_Mutation_p.S2693P|EYS_ENST00000370616.2_Missense_Mutation_p.S2714P			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2714					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCACTTATGGATAAAGCTGAG	0.353																																																0													48	41	43					6																	64436568		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.8140T>C	6.37:g.64436568A>G	ENSP00000359655:p.Ser2714Pro		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	A	11.25	1.583719	0.28268	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.82711	-1.63;-1.64;-1.64	3.55	2.37	0.29283	Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.54951	0.1890	L	0.38175	1.15	0.54753	D	0.999984	B;B	0.16802	0.019;0.011	B;B	0.18561	0.022;0.01	T	0.47420	-0.9119	9	0.29301	T	0.29	.	4.5696	0.12203	0.6979:0.195:0.1071:0.0	.	2693;2714	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	P	2693;2714;2714	ENSP00000424243:S2693P;ENSP00000359655:S2714P;ENSP00000359650:S2714P	ENSP00000359650:S2714P	S	-	1	0	EYS	64494527	0.909000	0.30893	0.981000	0.43875	0.776000	0.43924	1.574000	0.36482	0.299000	0.22661	0.402000	0.26972	TCC		0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		G	64436568	A	G	64436568	3	3	590	1	0	0	0	0	1	0	0	0	5334	333	12	3	1365	3	EYS	6	64436568	Missense_Mutation	SNP	A	TCGA-CZ-5458-01A-01D-1501-10		64436568	106678499	12	32197											
NT5C3	51251	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	33055308	33055308	+	Silent	SNP	G	G	A			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr7:33055308G>A	ENST00000242210.7	-	8	959	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000381626.2_Silent_p.L244L|NT5C3A_ENST00000409467.1_Silent_p.L244L|NT5C3A_ENST00000405342.1_Silent_p.L256L|NT5C3A_ENST00000610140.1_Silent_p.L290L|NT5C3A_ENST00000396152.2_Silent_p.L256L	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	295					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.L256L(2)|p.L295L(2)									CCAATTTTCAGAATGTGCTCA	0.328																																																4	Substitution - coding silent(4)	lung(2)|kidney(2)											70	68	69					7																	33055308		2203	4300	6503	SO:0001819	synonymous_variant	51251			AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"lupin"	606224	"5'-nucleotidase, cytosolic III"	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.883C>T	7.37:g.33055308G>A			A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Silent	SNP	ENST00000242210.7	37	CCDS34616.1																																																																																				0.328	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		A	33055308	G	A	33055308	2	1	590	1	0	0	0	0	0	0	0	1	10690	933	33	2		2	NT5C3	7	33055308	Silent	SNP	G	TCGA-CZ-5458-01A-01D-1501-10		33055308	126083355	13	32198											
UBE3C	9690	broad.mit.edu;ucsc.edu	37	7	157018150	157018150	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr7:157018150G>A	ENST00000348165.5	+	17	2510	c.2150G>A	c.(2149-2151)gGt>gAt	p.G717D		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	717					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G717D(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CAAGGAGATGGTCCATTTCTG	0.318																																																1	Substitution - Missense(1)	kidney(1)											107	106	106					7																	157018150		2203	4298	6501	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2150G>A	7.37:g.157018150G>A	ENSP00000309198:p.Gly717Asp		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971654	0.74246	.	.	ENSG00000009335	ENST00000348165	T	0.46451	0.87	5.3	5.3	0.74995	HECT (1);	0.092642	0.85682	D	0.000000	T	0.33294	0.0858	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.003	T	0.05037	-1.0910	10	0.31617	T	0.26	-14.3529	19.3668	0.94466	0.0:0.0:1.0:0.0	.	717;570	Q15386;B4DHJ9	UBE3C_HUMAN;.	D	717	ENSP00000309198:G717D	ENSP00000309198:G717D	G	+	2	0	UBE3C	156710911	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.442000	0.97566	2.654000	0.90174	0.551000	0.68910	GGT		0.318	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		A	157018150	G	A	157018150	3	1	590	1	0	0	0	0	1	0	0	0	16886	1261	44	2	2216	2	UBE3C	7	157018150	Missense_Mutation	SNP	G	TCGA-CZ-5458-01A-01D-1501-10	123962842	157018150	2120513	14	32199											
LEPROTL1	619373	broad.mit.edu	37	8	29994916	29994916	+	Intron	SNP	T	T	G			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr8:29994916T>G	ENST00000320542.3	-	2	429				LEPROTL1_ENST00000523116.1_Silent_p.T136T|LEPROTL1_ENST00000442880.2_3'UTR	NM_001100916.1	NP_001094386.1	Q96T53	MBOA4_HUMAN	membrane bound O-acyltransferase domain containing 4						cellular protein metabolic process (GO:0044267)|peptidyl-serine octanoylation (GO:0018191)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	serine O-acyltransferase activity (GO:0016412)	p.T136T(1)		endometrium(1)	1						GAGTGTCCACTCAACCCGTGC	0.567																																																1	Substitution - coding silent(1)	kidney(1)											46	41	43					8																	29994916		692	1591	2283	SO:0001627	intron_variant	23484			AF359269	CCDS47835.1	8p12	2008-08-04	2006-06-29	2006-06-29	ENSG00000177669	ENSG00000177669			32311	protein-coding gene	gene with protein product	"ghrelin O-acyltransferase"	611940	"O-acyltransferase (membrane bound) domain containing 4"	OACT4		18443287	Standard	NM_001100916		Approved	FKSG89, GOAT	uc010lvg.3	Q96T53	OTTHUMG00000163824	ENST00000320542.3:c.344+1131A>C	8.37:g.29994916T>G			B1Q003	Silent	SNP	ENST00000320542.3	37	CCDS47835.1																																																																																				0.567	MBOAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375795.1			G	29994916	T	G	29994916	1	3	590	0	1	0	0	0	0	0	0	0	8735	1538	54	5		5	LEPROTL1	8	29994916	Intron	SNP	T	TCGA-CZ-5458-01A-01D-1501-10		29994916	116369106	15	32200											
NKAIN3	286183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	63831061	63831061	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr8:63831061A>T	ENST00000523211.1	+	5	653	c.521A>T	c.(520-522)gAa>gTa	p.E174V	NKAIN3_ENST00000328472.5_Missense_Mutation_p.E174V|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E174V(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TCCATGGAAGAAGAAGACACA	0.378																																																1	Substitution - Missense(1)	kidney(1)											241	200	213					8																	63831061		1863	4105	5968	SO:0001583	missense	286183			AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"Na+/K+ transporting ATPase interacting"	26829	protein-coding gene	gene with protein product		612872	"family with sequence similarity 77, member D"	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.521A>T	8.37:g.63831061A>T	ENSP00000429073:p.Glu174Val			Missense_Mutation	SNP	ENST00000523211.1	37	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184004	0.78677	.	.	ENSG00000185942	ENST00000523211;ENST00000328472	T;T	0.19105	2.17;2.17	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.51244	0.1663	M	0.85777	2.775	0.52099	D	0.999945	D	0.89917	1.0	D	0.87578	0.998	T	0.58578	-0.7612	10	0.87932	D	0	-8.7884	14.4329	0.67264	1.0:0.0:0.0:0.0	.	174	Q8N8D7	NKAI3_HUMAN	V	174	ENSP00000429073:E174V;ENSP00000333627:E174V	ENSP00000333627:E174V	E	+	2	0	NKAIN3	63993615	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.415000	0.73328	2.160000	0.67779	0.482000	0.46254	GAA		0.378	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		T	63831061	A	T	63831061	3	4	590	1	0	0	0	0	1	0	0	0	10439	246	9	5	539	5	NKAIN3	8	63831061	Missense_Mutation	SNP	A	TCGA-CZ-5458-01A-01D-1501-10	33836145	63831061	82532961	16	32201											
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110471954	110471954	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr8:110471954T>C	ENST00000378402.5	+	47	7239	c.7135T>C	c.(7135-7137)Ttt>Ctt	p.F2379L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2379					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.F2381L(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGAACTCTGTTTGAAGCAAG	0.378										HNSCC(38;0.096)																																						1	Substitution - Missense(1)	kidney(1)											75	69	71					8																	110471954		1844	4092	5936	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7135T>C	8.37:g.110471954T>C	ENSP00000367655:p.Phe2379Leu		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.461792	0.63513	.	.	ENSG00000205038	ENST00000378402	D	0.91068	-2.78	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.84511	0.5488	L	0.28608	0.87	0.38115	D	0.937673	B	0.15141	0.012	B	0.21546	0.035	T	0.80714	-0.1259	10	0.21540	T	0.41	.	12.8554	0.57882	0.0:0.0:0.0:1.0	.	2379	Q86WI1	PKHL1_HUMAN	L	2379	ENSP00000367655:F2379L	ENSP00000367655:F2379L	F	+	1	0	PKHD1L1	110541130	1.000000	0.71417	0.960000	0.40013	0.989000	0.77384	4.846000	0.62860	1.940000	0.56252	0.254000	0.18369	TTT		0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110471954	T	C	110471954	3	2	590	1	0	0	0	0	1	0	0	0	11974	1725	60	3	7321	3	PKHD1L1	8	110471954	Missense_Mutation	SNP	T	TCGA-CZ-5458-01A-01D-1501-10	46640893	110471954	35892068	17	32202											
KAT5	10524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65480531	65480531	+	Splice_Site	SNP	T	T	G			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr11:65480531T>G	ENST00000377046.3	+	4	557		c.e4+2		KAT5_ENST00000525204.1_Splice_Site|KAT5_ENST00000341318.4_Splice_Site|KAT5_ENST00000352980.4_Splice_Site|KAT5_ENST00000530446.1_Splice_Site|KAT5_ENST00000534650.1_Splice_Site	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5						androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGAGAGGTGGTGAGTAGGTCC	0.567																																																1	Unknown(1)	kidney(1)											95	93	94					11																	65480531		2201	4297	6498	SO:0001630	splice_region_variant	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.285+2T>G	11.37:g.65480531T>G			B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Splice_Site	SNP	ENST00000377046.3	37	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	t	15.30	2.791853	0.50102	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	.	.	.	4.37	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0859	0.36581	0.0:0.0:0.1854:0.8146	.	.	.	.	.	-1	.	.	.	+	.	.	KAT5	65237107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.445000	0.66594	0.687000	0.31509	0.459000	0.35465	.		0.567	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388	Intron	G	65480531	T	G	65480531	5	3	590	1	0	0	0	0	0	0	1	0	7985	1710	59	5	396	5	KAT5	11	65480531	Splice_Site	SNP	T	TCGA-CZ-5458-01A-01D-1501-10		65480531	69525985	18	32203											
CFL1	1072	hgsc.bcm.edu	37	11	65622863	65622863	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr11:65622863delG	ENST00000525451.2	-	5	1160	c.445delC	c.(445-447)ctgfs	p.L149fs	CFL1_ENST00000308162.5_Frame_Shift_Del_p.L149fs|CFL1_ENST00000531407.1_Frame_Shift_Del_p.L132fs|CFL1_ENST00000534769.1_Frame_Shift_Del_p.L187fs|CFL1_ENST00000531413.1_Frame_Shift_Del_p.L132fs|CFL1_ENST00000524553.1_Frame_Shift_Del_p.L132fs|CFL1_ENST00000527344.1_Frame_Shift_Del_p.L132fs			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	149	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TTCTCTGCCAGGGTGCAGCGG	0.597																																					Esophageal Squamous(90;820 1366 3932 32351 42291)											0													47	47	47					11																	65622863		2201	4297	6498	SO:0001589	frameshift_variant	1072			X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.445delC	11.37:g.65622863delG	ENSP00000432660:p.Leu149fs		B3KUQ1|Q53Y87|Q9UCA2	Frame_Shift_Del	DEL	ENST00000525451.2	37	CCDS8114.1																																																																																				0.597	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390701.3	NM_005507		-	65622863	G	-	65622863	7	5	590	1	0	1	0	1	0	0	0	0	3292	991	35	0	59	0	CFL1	11	65622863	Frame_Shift_Del	DEL	G	TCGA-CZ-5458-01A-01D-1501-10	142332	65622863	69383653	19	32204											
STAT2	6773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56748290	56748290	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr12:56748290T>C	ENST00000314128.4	-	8	765	c.742A>G	c.(742-744)Aga>Gga	p.R248G	RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Missense_Mutation_p.R244G|STAT2_ENST00000557235.1_Missense_Mutation_p.R244G			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	248					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R248G(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ATGGGAGCTCTGATGCAGGCT	0.552																																																1	Substitution - Missense(1)	kidney(1)											151	119	130					12																	56748290		2203	4300	6503	SO:0001583	missense	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.742A>G	12.37:g.56748290T>C	ENSP00000315768:p.Arg248Gly		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	T	2.940	-0.219167	0.06101	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.09817	2.94;2.94;2.94	5.05	4.12	0.48240	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.054192	0.64402	N	0.000001	T	0.01489	0.0048	N	0.00021	-2.75	0.36140	D	0.84671	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40098	-0.9581	10	0.02654	T	1	-8.6175	12.7439	0.57268	0.0:0.9182:0.0:0.0818	.	244;244;248	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	G	248;244;244	ENSP00000315768:R248G;ENSP00000450751:R244G;ENSP00000387354:R244G	ENSP00000315768:R248G	R	-	1	2	STAT2	55034557	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	5.101000	0.64566	1.486000	0.48398	-0.285000	0.09966	AGA		0.552	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		C	56748290	T	C	56748290	3	2	590	1	0	0	0	0	1	0	0	0	15270	1588	55	3	1881	3	STAT2	12	56748290	Missense_Mutation	SNP	T	TCGA-CZ-5458-01A-01D-1501-10		56748290	77103605	20	32205											
RDH16	8608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57345981	57345981	+	Silent	SNP	C	C	T	rs372244884		TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr12:57345981C>T	ENST00000398138.3	-	4	1642	c.786G>A	c.(784-786)tcG>tcA	p.S262S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	262					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)	p.S262S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TGGTCACCAACGACAGATCCT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22190	0.0		0.0	False		,,,				2504	0.0				GBM(179;741 2921 43105 45298)											2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)						C		1,4251		0,1,2125	90	100	97		786	0.1	0	12		97	0,8496		0,0,4248	no	coding-synonymous	RDH16	NM_003708.3		0,1,6373	TT,TC,CC		0.0,0.0235,0.0078		262/318	57345981	1,12747	2126	4248	6374	SO:0001819	synonymous_variant	8608				CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29674	protein-coding gene	gene with protein product	"microsomal NAD+ dependent retinol dehydrogenase 4", "short chain dehydrogenase/reductase family 9C, member 8"		"retinol dehydrogenase 16 (all-trans and 13-cis)"			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.786G>A	12.37:g.57345981C>T			Q9UNV2	Silent	SNP	ENST00000398138.3	37	CCDS41797.1																																																																																				0.502	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		T	57345981	C	T	57345981	2	4	590	1	0	0	0	0	0	0	0	1	13200	523	19	1		1	RDH16	12	57345981	Silent	SNP	C	TCGA-CZ-5458-01A-01D-1501-10	597691	57345981	76505914	21	32206											
MTUS2	23281	broad.mit.edu;ucsc.edu	37	13	30071435	30071435	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr13:30071435G>C	ENST00000380808.2	+	6	793	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	MTUS2_ENST00000542829.1_Missense_Mutation_p.E103Q|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000431530.3_Missense_Mutation_p.E1224Q	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1214						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.E193Q(1)|p.E1224Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCGCCGCTTCGAAGAGGCCTT	0.622																																																2	Substitution - Missense(2)	kidney(2)											32	42	39					13																	30071435		2083	4229	6312	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.577G>C	13.37:g.30071435G>C	ENSP00000370186:p.Glu193Gln		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000380808.2	37	CCDS41874.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058330	0.93846	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	T;T;T	0.33865	2.12;1.61;1.39	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.959;0.999	T	0.60910	-0.7169	9	.	.	.	.	17.8315	0.88684	0.0:0.0:1.0:0.0	.	193;1214	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	Q	1224;193;103;150	ENSP00000392057:E1224Q;ENSP00000370186:E193Q;ENSP00000445403:E103Q	.	E	+	1	0	MTUS2	28969435	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.916000	0.92745	2.677000	0.91161	0.655000	0.94253	GAA		0.622	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270		C	30071435	G	C	30071435	3	2	590	1	0	0	0	0	1	0	0	0	9968	1059	37	4	3770	4	MTUS2	13	30071435	Missense_Mutation	SNP	G	TCGA-CZ-5458-01A-01D-1501-10		30071435	85098443	22	32207											
C14orf145	145508	broad.mit.edu;ucsc.edu	37	14	81259370	81259370	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr14:81259370T>C	ENST00000555265.1	-	14	1669	c.1294A>G	c.(1294-1296)Aca>Gca	p.T432A	CEP128_ENST00000281129.3_Missense_Mutation_p.T432A			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	432						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.T432A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCCTCACATGTGTCAAAGTGA	0.493																																																1	Substitution - Missense(1)	kidney(1)											166	150	155					14																	81259370		2203	4300	6503	SO:0001583	missense	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1294A>G	14.37:g.81259370T>C	ENSP00000451162:p.Thr432Ala		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	T	7.256	0.604256	0.14002	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.29397	1.57;1.57	5.36	1.66	0.24008	.	0.652316	0.14958	N	0.288524	T	0.21801	0.0525	L	0.44542	1.39	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.28902	-1.0029	10	0.14252	T	0.57	.	8.5021	0.33163	0.0:0.388:0.0:0.612	.	432	Q6ZU80	CE128_HUMAN	A	432	ENSP00000281129:T432A;ENSP00000451162:T432A	ENSP00000281129:T432A	T	-	1	0	CEP128	80329123	0.463000	0.25799	0.748000	0.31131	0.672000	0.39443	0.655000	0.24933	0.348000	0.23949	0.528000	0.53228	ACA		0.493	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		C	81259370	T	C	81259370	3	2	590	1	0	0	0	0	1	0	0	0	1751	1696	59	3	2038	3	C14orf145	14	81259370	Missense_Mutation	SNP	T	TCGA-CZ-5458-01A-01D-1501-10		81259370	26090170	23	32208											
RYR3	6263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	33873834	33873834	+	Silent	SNP	C	C	T			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr15:33873834C>T	ENST00000389232.4	+	14	1633	c.1563C>T	c.(1561-1563)taC>taT	p.Y521Y	RYR3_ENST00000415757.3_Silent_p.Y521Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	521					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)	p.Y521Y(1)		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)		ACCTCCTCTACAAATTGCTGG	0.458																																																1	Substitution - coding silent(1)	kidney(1)											112	115	114					15																	33873834		1915	4134	6049	SO:0001819	synonymous_variant	6263				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.1563C>T	15.37:g.33873834C>T			O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33873834	C	T	33873834	2	4	590	1	0	0	0	0	0	0	0	1	13776	489	17	2		2	RYR3	15	33873834	Silent	SNP	C	TCGA-CZ-5458-01A-01D-1501-10		33873834	68657558	24	32209											
ARPP19	10776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52844224	52844224	+	Silent	SNP	C	C	T	rs528673270		TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr15:52844224C>T	ENST00000566423.1	-	4	379	c.246G>A	c.(244-246)ccG>ccA	p.P82P	ARPP19_ENST00000564163.1_Silent_p.P101P|ARPP19_ENST00000563566.1_Silent_p.P66P|ARPP19_ENST00000569723.1_Silent_p.P41P|ARPP19_ENST00000568196.1_Silent_p.P66P|ARPP19_ENST00000561650.1_Silent_p.P66P|ARPP19_ENST00000569281.2_Silent_p.P82P|ARPP19_ENST00000249822.4_Silent_p.P82P|ARPP19_ENST00000567669.1_Silent_p.P82P|ARPP19_ENST00000561971.1_Silent_p.P101P|ARPP19_ENST00000565288.1_5'UTR|ARPP19_ENST00000563277.1_Silent_p.P66P			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	82					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of glucose import (GO:0046326)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	phosphatase inhibitor activity (GO:0019212)|potassium channel regulator activity (GO:0015459)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)	p.P82P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CCGTCTTATCCGGAGCTGCAG	0.438													A|||	1	0.000199681	0.0	0.0	5008	,	,		19255	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	kidney(1)											157	144	149					15																	52844224		2194	4293	6487	SO:0001819	synonymous_variant	10776			AF084555	CCDS32242.1	15q11.2	2009-04-20	2009-04-20		ENSG00000128989	ENSG00000128989			16967	protein-coding gene	gene with protein product	"endosulfine alpha-like"	605487				11279279, 8687439	Standard	NM_006628		Approved	ARPP-19, ARPP-16, ARPP16, ENSAL	uc002acd.1	P56211		ENST00000566423.1:c.246G>A	15.37:g.52844224C>T			B2R497|Q6IAM2|Q86TA6|Q9UD70	Silent	SNP	ENST00000566423.1	37	CCDS32242.1																																																																																				0.438	ARPP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419834.1	NM_006628		T	52844224	C	T	52844224	2	4	590	1	0	0	0	0	0	0	0	1	977	639	23	1		1	ARPP19	15	52844224	Silent	SNP	C	TCGA-CZ-5458-01A-01D-1501-10	18970390	52844224	49687168	25	32210											
RAB11FIP3	9727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	532561	532561	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr16:532561G>A	ENST00000262305.4	+	4	1328	c.940G>A	c.(940-942)Gag>Aag	p.E314K	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.E314K|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.E18K	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	314					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.E314K(1)		breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CATGGGCTCCGAGAGCACCTA	0.647																																					Melanoma(160;2366 2595 4474 8099)											1	Substitution - Missense(1)	kidney(1)											99	80	86					16																	532561		2202	4300	6502	SO:0001583	missense	9727			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.940G>A	16.37:g.532561G>A	ENSP00000262305:p.Glu314Lys		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	ENST00000262305.4	37	CCDS32351.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703506	0.96812	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585;ENST00000450428;ENST00000452814;ENST00000449879;ENST00000448401	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	T	0.79335	0.4428	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.986	T	0.80961	-0.1148	8	0.72032	D	0.01	-31.1948	18.3248	0.90250	0.0:0.0:1.0:0.0	.	314;18;314	O75154-3;O75154-2;O75154	.;.;RFIP3_HUMAN	K	314;314;190;18;4;18;18	.	ENSP00000262305:E314K	E	+	1	0	RAB11FIP3	472562	1.000000	0.71417	0.984000	0.44739	0.982000	0.71751	9.359000	0.97115	2.573000	0.86826	0.655000	0.94253	GAG		0.647	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		A	532561	G	A	532561	3	1	590	1	0	0	0	0	1	0	0	0	12901	1059	37	1	973	1	RAB11FIP3	16	532561	Missense_Mutation	SNP	G	TCGA-CZ-5458-01A-01D-1501-10		532561	89822192	26	32211											
CNOT1	23019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58564211	58564211	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr16:58564211T>C	ENST00000317147.5	-	43	6550	c.6218A>G	c.(6217-6219)aAa>aGa	p.K2073R	CNOT1_ENST00000245138.4_Missense_Mutation_p.K924R|CNOT1_ENST00000569240.1_Missense_Mutation_p.K2068R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2073					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.K2073R(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CGCTAAATATTTGAATAAATC	0.338																																																1	Substitution - Missense(1)	kidney(1)											64	65	64					16																	58564211		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6218A>G	16.37:g.58564211T>C	ENSP00000320949:p.Lys2073Arg		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360215	0.82353	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138;ENST00000394200	T	0.51817	0.69	5.72	5.72	0.89469	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.53729	1.69	0.80722	D	1	P;B;B	0.34934	0.476;0.222;0.218	B;B;B	0.36244	0.172;0.22;0.202	T	0.39035	-0.9633	10	0.31617	T	0.26	.	15.9886	0.80183	0.0:0.0:0.0:1.0	.	924;2073;2068	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	R	2073;767;78;924;2068	ENSP00000320949:K2073R	ENSP00000245138:K924R	K	-	2	0	CNOT1	57121712	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.002000	0.88514	2.187000	0.69744	0.528000	0.53228	AAA		0.338	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		C	58564211	T	C	58564211	3	2	590	1	0	0	0	0	1	0	0	0	3619	1841	64	3	940	3	CNOT1	16	58564211	Missense_Mutation	SNP	T	TCGA-CZ-5458-01A-01D-1501-10	58031650	58564211	31790542	27	32212											
C16orf55	124045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89724745	89724745	+	Missense_Mutation	SNP	G	G	C	rs149646248		TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr16:89724745G>C	ENST00000301031.4	+	2	124	c.124G>C	c.(124-126)Gac>Cac	p.D42H	CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000535997.2_5'Flank|CHMP1A_ENST00000253475.5_5'Flank|CHMP1A_ENST00000550102.1_5'Flank|SPATA33_ENST00000579310.1_Missense_Mutation_p.D43H|CHMP1A_ENST00000397901.3_5'Flank|SPATA33_ENST00000568929.1_Missense_Mutation_p.D12H	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	42						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D42H(1)									CAGGCAGGCAGACAGGGAGTC	0.582																																																1	Substitution - Missense(1)	kidney(1)											43	46	45					16																	89724745		2198	4300	6498	SO:0001583	missense	124045			AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"chromosome 16 open reading frame 55"	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.124G>C	16.37:g.89724745G>C	ENSP00000301031:p.Asp42His		A8WFL2|B4DZN8	Missense_Mutation	SNP	ENST00000301031.4	37	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883747	0.51908	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.44482	0.92	2.88	1.92	0.25849	.	.	.	.	.	T	0.43897	0.1268	N	0.24115	0.695	0.09310	N	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.68353	0.937;0.957;0.937	T	0.17107	-1.0380	9	0.66056	D	0.02	.	5.7719	0.18257	0.1497:0.0:0.8503:0.0	.	43;56;42	B4DZN8;Q86XC3;Q96N06	.;.;CP055_HUMAN	H	42;43	ENSP00000301031:D42H	ENSP00000301031:D42H	D	+	1	0	C16orf55	88252246	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.397000	0.20883	0.791000	0.33826	0.598000	0.82781	GAC		0.582	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269924.2	NM_153025		C	89724745	G	C	89724745	3	2	590	1	0	0	0	0	1	0	0	0	1822	942	33	4	130	4	C16orf55	16	89724745	Missense_Mutation	SNP	G	TCGA-CZ-5458-01A-01D-1501-10	31160534	89724745	630008	28	32213											
MARCH10	162333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60813347	60813347	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr17:60813347T>A	ENST00000311269.5	-	6	2156	c.1882A>T	c.(1882-1884)Aag>Tag	p.K628*	MARCH10_ENST00000456609.2_Nonsense_Mutation_p.K628*|MARCH10_ENST00000583600.1_Nonsense_Mutation_p.K666*|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000544856.2_Nonsense_Mutation_p.K627*|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	628					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K628*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTGGTTTCCTTTTCATCTGTG	0.383																																																1	Substitution - Nonsense(1)	kidney(1)											85	88	87					17																	60813347		2203	4300	6503	SO:0001587	stop_gained	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1882A>T	17.37:g.60813347T>A	ENSP00000311496:p.Lys628*		D3DU09|Q8IYS7|Q8N7Z7	Nonsense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.887306	0.91814	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	.	.	.	5.37	1.71	0.24356	.	0.386354	0.24774	N	0.035720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8757	5.9963	0.19495	0.0:0.0846:0.3153:0.6002	.	.	.	.	X	628;628;627	.	ENSP00000311496:K628X	K	-	1	0	MARCH10	58167079	0.063000	0.20901	0.002000	0.10522	0.003000	0.03518	1.119000	0.31258	0.055000	0.16094	-0.466000	0.05196	AAG		0.383	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		A	60813347	T	A	60813347	4	1	590	1	0	0	0	0	0	1	0	0	9301	1850	64	5	568	5	MARCH10	17	60813347	Nonsense_Mutation	SNP	T	TCGA-CZ-5458-01A-01D-1501-10		60813347	20381863	29	32214											
GALR1	2587	broad.mit.edu;ucsc.edu	37	18	74962847	74962847	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr18:74962847T>C	ENST00000299727.3	+	1	343	c.343T>C	c.(343-345)Ttc>Ctc	p.F115L		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	115					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.F115L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCACTACTTCTTCACCGTGTC	0.637																																																1	Substitution - Missense(1)	kidney(1)											132	111	118					18																	74962847		2203	4300	6503	SO:0001583	missense	2587			U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.343T>C	18.37:g.74962847T>C	ENSP00000299727:p.Phe115Leu		Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.988912	0.53934	.	.	ENSG00000166573	ENST00000299727	T	0.38401	1.14	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	N	0.25245	0.725	0.58432	D	0.999997	P	0.38788	0.647	P	0.49887	0.625	T	0.06075	-1.0847	10	0.02654	T	1	.	13.1006	0.59218	0.0:0.0:0.0:1.0	.	115	P47211	GALR1_HUMAN	L	115	ENSP00000299727:F115L	ENSP00000299727:F115L	F	+	1	0	GALR1	73091835	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.717000	0.61923	1.576000	0.49790	0.477000	0.44152	TTC		0.637	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			C	74962847	T	C	74962847	3	2	590	1	0	0	0	0	1	0	0	0	6229	1609	56	3	345	3	GALR1	18	74962847	Missense_Mutation	SNP	T	TCGA-CZ-5458-01A-01D-1501-10		74962847	3114401	30	32215											
LILRB1	10859	broad.mit.edu;hgsc.bcm.edu	37	19	55142960	55142960	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chr19:55142960C>T	ENST00000396331.1	+	5	437	c.80C>T	c.(79-81)cCc>cTc	p.P27L	LILRB1_ENST00000427581.2_Missense_Mutation_p.P63L|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000418536.2_Missense_Mutation_p.P27L|LILRB1_ENST00000396327.3_Missense_Mutation_p.P27L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P27L|LILRB1_ENST00000396332.4_Missense_Mutation_p.P27L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P27L|LILRB1_ENST00000324602.7_Missense_Mutation_p.P27L|LILRB1_ENST00000396315.1_Missense_Mutation_p.P27L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P27L|LILRB1_ENST00000448689.1_Missense_Mutation_p.P27L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	27	Ig-like C2-type 1.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.P27L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGGCACCTCCCCAAGCCCACC	0.617										HNSCC(37;0.09)																																						1	Substitution - Missense(1)	kidney(1)											66	76	73					19																	55142960		2203	4300	6503	SO:0001583	missense	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.80C>T	19.37:g.55142960C>T	ENSP00000379622:p.Pro27Leu		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645231	0.14451	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.01043	5.41;5.41;5.41;5.41;5.41;5.41;5.41;5.41;5.41;5.41;5.41	2.11	0.97	0.19692	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129848	0.35615	N	0.003082	T	0.02610	0.0079	M	0.89534	3.04	0.09310	N	1	P;B;B;B;B	0.48998	0.918;0.11;0.374;0.05;0.029	B;B;B;B;B	0.42851	0.4;0.038;0.072;0.027;0.007	T	0.35176	-0.9799	10	0.51188	T	0.08	.	5.9757	0.19377	0.3047:0.6953:0.0:0.0	.	27;27;27;27;27	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	L	27;27;27;27;27;27;27;27;63;27;27	ENSP00000379614:P27L;ENSP00000391514:P27L;ENSP00000409968:P27L;ENSP00000379622:P27L;ENSP00000379618:P27L;ENSP00000315997:P27L;ENSP00000405243:P27L;ENSP00000379623:P27L;ENSP00000395004:P63L;ENSP00000379610:P27L;ENSP00000379608:P27L	ENSP00000315997:P27L	P	+	2	0	LILRB1	59834772	0.002000	0.14202	0.015000	0.15790	0.035000	0.12851	0.471000	0.22100	0.202000	0.20498	0.194000	0.17425	CCC		0.617	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			T	55142960	C	T	55142960	3	4	590	1	0	0	0	0	1	0	0	0	8792	623	22	2	90	2	LILRB1	19	55142960	Missense_Mutation	SNP	C	TCGA-CZ-5458-01A-01D-1501-10		55142960	3986023	31	32216											
MAGT1	84061	broad.mit.edu;hgsc.bcm.edu	37	X	77150869	77150869	+	Silent	SNP	G	G	T			TCGA-CZ-5458-01A-01D-1501-10	TCGA-CZ-5458-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1737382a-a1c9-45e1-b009-a29be1d93749	3accf146-13ec-4425-8326-31363f8c1234	g.chrX:77150869G>T	ENST00000373336.3	-	1	68	c.39C>A	c.(37-39)acC>acA	p.T13T	MAGT1_ENST00000358075.6_Silent_p.T45T			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	13					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.T13T(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CCACCACCATGGTCACAGAGA	0.572																																																1	Substitution - coding silent(1)	kidney(1)											154	99	118					X																	77150869		2203	4296	6499	SO:0001819	synonymous_variant	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.39C>A	X.37:g.77150869G>T			B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	ENST00000373336.3	37																																																																																					0.572	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		T	77150869	G	T	77150869	2	4	590	1	0	0	0	0	0	0	0	1	9198	1335	47	4		4	MAGT1	23	77150869	Silent	SNP	G	TCGA-CZ-5458-01A-01D-1501-10		77150869	78119691	32	32217											
LRRC7	57554	broad.mit.edu	37	1	70505476	70505476	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:70505476G>A	ENST00000035383.5	+	19	3885	c.3855G>A	c.(3853-3855)agG>agA	p.R1285R	LRRC7_ENST00000310961.5_Splice_Site_p.R1290R|LRRC7_ENST00000415775.2_Splice_Site_p.R569R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1285						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R1285R(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGTTAGACAGGGTATGTCTGG	0.448																																																1	Substitution - coding silent(1)	kidney(1)											90	90	90					1																	70505476		2203	4300	6503	SO:0001630	splice_region_variant	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3855+1G>A	1.37:g.70505476G>A			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																				0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	Silent	A	70505476	G	A	70505476	5	1	591	1	0	0	0	0	0	0	1	0	9022	1246	43	2	3929	2	LRRC7	1	70505476	Splice_Site	SNP	G	TCGA-CZ-5459-01A-01D-1501-10		70505476	178745145	1	32218											
HCN3	57657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155254427	155254427	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:155254427C>T	ENST00000368358.3	+	4	976	c.968C>T	c.(967-969)cCc>cTc	p.P323L	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	323					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P323L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTAGGCATGCCCGACGTCTGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											104	77	86					1																	155254427		2203	4300	6503	SO:0001583	missense	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.968C>T	1.37:g.155254427C>T	ENSP00000357342:p.Pro323Leu		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902027	0.72754	.	.	ENSG00000143630	ENST00000368358	D	0.98150	-4.75	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.50627	D	0.000102	D	0.89986	0.6874	N	0.04018	-0.295	0.53005	D	0.999965	B	0.02656	0.0	B	0.06405	0.002	D	0.85949	0.1463	10	0.49607	T	0.09	.	16.5568	0.84487	0.0:1.0:0.0:0.0	.	323	Q9P1Z3	HCN3_HUMAN	L	323	ENSP00000357342:P323L	ENSP00000357342:P323L	P	+	2	0	HCN3	153521051	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.773000	0.85462	2.573000	0.86826	0.552000	0.68991	CCC		0.597	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		T	155254427	C	T	155254427	3	4	591	1	0	0	0	0	1	0	0	0	7000	623	22	2	982	2	HCN3	1	155254427	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	84748951	155254427	93996194	2	32219											
SCYL3	57147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169833584	169833584	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:169833584A>G	ENST00000367770.1	-	8	928	c.881T>C	c.(880-882)cTg>cCg	p.L294P	SCYL3_ENST00000367771.6_Missense_Mutation_p.L294P|SCYL3_ENST00000367772.4_Missense_Mutation_p.L294P|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	294					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.L294P(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGATTAAGCAGAAGAGGCAC	0.448																																																2	Substitution - Missense(2)	kidney(2)											92	87	88					1																	169833584		2203	4300	6503	SO:0001583	missense	57147			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.881T>C	1.37:g.169833584A>G	ENSP00000356744:p.Leu294Pro		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474211	0.84640	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74034	-0.3794	10	0.87932	D	0	-8.9871	15.3455	0.74334	1.0:0.0:0.0:0.0	.	294;294	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	P	294	ENSP00000356746:L294P;ENSP00000356745:L294P;ENSP00000356744:L294P;ENSP00000407993:L294P	ENSP00000356744:L294P	L	-	2	0	SCYL3	168100208	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.957000	0.93082	2.089000	0.63090	0.533000	0.62120	CTG		0.448	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		G	169833584	A	G	169833584	3	3	591	1	0	0	0	0	1	0	0	0	13955	188	7	3	1371	3	SCYL3	1	169833584	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	14579157	169833584	79417037	3	32220											
ZBTB37	84614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	173854993	173854993	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:173854993C>A	ENST00000367701.5	+	4	1434	c.1243C>A	c.(1243-1245)Cag>Aag	p.Q415K	ZBTB37_ENST00000427304.1_Missense_Mutation_p.Q415K|ZBTB37_ENST00000367704.1_3'UTR			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q415K(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CCGGAAAGATCAGCTGGAGTA	0.517																																																1	Substitution - Missense(1)	kidney(1)											158	130	138					1																	173854993		692	1591	2283	SO:0001583	missense	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.1243C>A	1.37:g.173854993C>A	ENSP00000356674:p.Gln415Lys		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313235	0.81358	.	.	ENSG00000185278	ENST00000427304;ENST00000367703;ENST00000367701	T;T	0.60171	0.21;0.21	5.74	5.74	0.90152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.049795	0.85682	D	0.000000	T	0.45975	0.1369	N	0.16166	0.38	0.80722	D	1	P	0.46784	0.884	P	0.59171	0.853	T	0.35798	-0.9774	10	0.10377	T	0.69	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	415	Q5TC79	ZBT37_HUMAN	K	415;323;415	ENSP00000415293:Q415K;ENSP00000356674:Q415K	ENSP00000356674:Q415K	Q	+	1	0	ZBTB37	172121616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.712000	0.92718	0.650000	0.86243	CAG		0.517	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		A	173854993	C	A	173854993	3	1	591	1	0	0	0	0	1	0	0	0	17543	827	29	4	1316	4	ZBTB37	1	173854993	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	4021409	173854993	75395628	4	32221											
CABC1	56997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227171879	227171879	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:227171879G>A	ENST00000366779.1	+	16	4112	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	ADCK3_ENST00000433743.2_Silent_p.L121L|ADCK3_ENST00000366778.1_Silent_p.L395L|ADCK3_ENST00000366777.3_Silent_p.L447L|ADCK3_ENST00000458507.2_Silent_p.L168L|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	447	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L447L(1)|p.L168L(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCACAGAGCTGGTGTCTGGCT	0.627																																																2	Substitution - coding silent(2)	kidney(2)											51	44	46					1																	227171879		2203	4300	6503	SO:0001819	synonymous_variant	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1341G>A	1.37:g.227171879G>A			Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	CCDS1557.1																																																																																				0.627	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		A	227171879	G	A	227171879	2	1	591	1	0	0	0	0	0	0	0	1	2529	1335	47	2		2	CABC1	1	227171879	Silent	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	53316886	227171879	22078742	5	32222											
CDC42BPA	8476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227192738	227192738	+	Silent	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:227192738A>G	ENST00000366769.3	-	34	6118	c.4827T>C	c.(4825-4827)ccT>ccC	p.P1609P	CDC42BPA_ENST00000535525.1_Silent_p.P1589P|CDC42BPA_ENST00000366765.3_Silent_p.P1622P|CDC42BPA_ENST00000334218.5_Silent_p.P1671P|CDC42BPA_ENST00000366766.2_Silent_p.P1644P|CDC42BPA_ENST00000366764.2_Silent_p.P1581P|CDC42BPA_ENST00000366767.3_Silent_p.P1528P	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.P1644P(1)|p.P1528P(1)|p.P1609P(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GGCCTGGCTCAGGGCGGGATT	0.557																																																3	Substitution - coding silent(3)	kidney(3)											106	101	102					1																	227192738		2203	4300	6503	SO:0001819	synonymous_variant	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4827T>C	1.37:g.227192738A>G				Silent	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446124	0.25987	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440	.	.	.	6.08	-3.27	0.05048	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9907	0.05982	0.2776:0.4223:0.1275:0.1726	.	.	.	.	R	874;938;507	.	.	X	-	1	0	CDC42BPA	225259361	0.075000	0.21258	0.989000	0.46669	0.991000	0.79684	-0.653000	0.05360	-0.425000	0.07371	-0.438000	0.05819	TGA		0.557	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		G	227192738	A	G	227192738	2	3	591	1	0	0	0	0	0	0	0	1	3074	175	7	3		3	CDC42BPA	1	227192738	Silent	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	20859	227192738	22057883	6	32223											
RYR2	6262	broad.mit.edu	37	1	237955606	237955606	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:237955606G>A	ENST00000366574.2	+	94	14082	c.13765G>A	c.(13765-13767)Gga>Aga	p.G4589R	RYR2_ENST00000542537.1_Missense_Mutation_p.G4573R|RYR2_ENST00000360064.6_Missense_Mutation_p.G4595R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4589					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G4587R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGCATCATTGGATACTACTG	0.483																																																1	Substitution - Missense(1)	kidney(1)											53	58	56					1																	237955606		2050	4183	6233	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13765G>A	1.37:g.237955606G>A	ENSP00000355533:p.Gly4589Arg		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033241	0.93575	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.95756	-3.8;-3.8;-3.8	5.49	5.49	0.81192	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	U	0.000018	D	0.97359	0.9136	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.984;1.0	D	0.97740	1.0208	10	0.87932	D	0	-17.2191	19.7468	0.96255	0.0:0.0:1.0:0.0	.	22;4589	F5H3C7;Q92736	.;RYR2_HUMAN	R	4589;4595;4573;22	ENSP00000355533:G4589R;ENSP00000353174:G4595R;ENSP00000443798:G4573R	ENSP00000353174:G4595R	G	+	1	0	RYR2	236022229	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.809000	0.99208	2.731000	0.93534	0.650000	0.86243	GGA		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		A	237955606	G	A	237955606	3	1	591	1	0	0	0	0	1	0	0	0	13775	1349	47	2	14139	2	RYR2	1	237955606	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	10762868	237955606	11295015	7	32224											
PROM2	150696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	95947697	95947697	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr2:95947697C>A	ENST00000317620.9	+	13	1709	c.1576C>A	c.(1576-1578)Ccc>Acc	p.P526T	PROM2_ENST00000542147.1_Missense_Mutation_p.P526T|PROM2_ENST00000317668.4_Missense_Mutation_p.P526T|PROM2_ENST00000403131.2_Missense_Mutation_p.P526T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	526					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.P526T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGGAACCTGCCCCCGTCCAT	0.637																																																1	Substitution - Missense(1)	kidney(1)											101	95	97					2																	95947697		2203	4300	6503	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1576C>A	2.37:g.95947697C>A	ENSP00000318270:p.Pro526Thr		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466832	0.63625	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.18	5.18	0.71444	.	0.085998	0.49916	D	0.000126	T	0.61489	0.2351	M	0.79475	2.455	0.52501	D	0.99995	D	0.76494	0.999	D	0.76071	0.987	T	0.58842	-0.7565	10	0.12430	T	0.62	-23.6498	14.2585	0.66067	0.0:1.0:0.0:0.0	.	526	Q8N271	PROM2_HUMAN	T	526	ENSP00000385716:P526T;ENSP00000318520:P526T;ENSP00000318270:P526T;ENSP00000442542:P526T	ENSP00000318270:P526T	P	+	1	0	PROM2	95311424	1.000000	0.71417	0.974000	0.42286	0.776000	0.43924	4.675000	0.61619	2.430000	0.82344	0.555000	0.69702	CCC		0.637	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		A	95947697	C	A	95947697	3	1	591	1	0	0	0	0	1	0	0	0	12561	739	26	4	1626	4	PROM2	2	95947697	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10		95947697	147251676	8	32225											
COBLL1	22837	broad.mit.edu;hgsc.bcm.edu	37	2	165551694	165551694	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr2:165551694T>C	ENST00000392717.2	-	13	2440	c.2436A>G	c.(2434-2436)atA>atG	p.I812M	COBLL1_ENST00000375458.2_Missense_Mutation_p.I736M|COBLL1_ENST00000194871.6_Missense_Mutation_p.I841M|COBLL1_ENST00000409184.3_Missense_Mutation_p.I774M|COBLL1_ENST00000342193.4_Missense_Mutation_p.I774M			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	812						extracellular vesicular exosome (GO:0070062)		p.I774M(1)		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						TGGGAGGCACTATTTTATAAG	0.378																																																1	Substitution - Missense(1)	kidney(1)											162	166	165					2																	165551694		2203	4300	6503	SO:0001583	missense	22837			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.2436A>G	2.37:g.165551694T>C	ENSP00000376478:p.Ile812Met		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	T	17.82	3.482227	0.63962	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	4.85	0.62838	.	0.128501	0.53938	D	0.000045	T	0.68183	0.2973	M	0.66939	2.045	0.42493	D	0.992902	P;D;P	0.53151	0.912;0.958;0.947	P;P;P	0.60345	0.768;0.823;0.873	T	0.68372	-0.5426	9	0.46703	T	0.11	-23.0611	9.4677	0.38822	0.12:0.0:0.1258:0.7542	.	812;841;774	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	M	736;774;774;812;841	.	ENSP00000194871:I841M	I	-	3	3	COBLL1	165259940	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.488000	0.22371	1.071000	0.40834	0.455000	0.32223	ATA		0.378	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		C	165551694	T	C	165551694	3	2	591	1	0	0	0	0	1	0	0	0	3656	1512	53	3	1190	3	COBLL1	2	165551694	Missense_Mutation	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	69603997	165551694	77647679	9	32226											
NOSTRIN	115677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	169707624	169707624	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr2:169707624C>A	ENST00000317647.7	+	9	890	c.661C>A	c.(661-663)Caa>Aaa	p.Q221K	NOSTRIN_ENST00000444448.2_Missense_Mutation_p.Q278K|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.Q278K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.Q143K|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.Q143K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.Q193K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.Q193K	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	221					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)	p.Q278K(1)|p.Q221K(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GGAAAGAATTCAACTTTTATG	0.388																																																2	Substitution - Missense(2)	kidney(2)											134	120	125					2																	169707624		1894	4122	6016	SO:0001583	missense	115677			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"nitric oxide synthase trafficker"			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.661C>A	2.37:g.169707624C>A	ENSP00000318921:p.Gln221Lys		A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298881	0.23650	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711;ENST00000447264	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.67	3.83	0.44106	.	0.167661	0.52532	N	0.000061	T	0.30230	0.0758	L	0.41027	1.25	0.80722	D	1	B;B;B;B;B	0.16166	0.001;0.016;0.007;0.002;0.004	B;B;B;B;B	0.14023	0.001;0.006;0.01;0.002;0.004	T	0.09314	-1.0680	10	0.06365	T	0.9	-18.7825	12.8936	0.58087	0.3104:0.6896:0.0:0.0	.	193;278;115;221;278	Q8IVI9-2;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;NOSTN_HUMAN;.	K	278;278;221;143;143;193;193;143	ENSP00000402140:Q278K;ENSP00000394051:Q278K;ENSP00000318921:Q221K;ENSP00000404413:Q143K;ENSP00000380390:Q143K;ENSP00000380392:Q193K;ENSP00000401316:Q193K;ENSP00000390383:Q143K	ENSP00000318921:Q221K	Q	+	1	0	NOSTRIN	169415870	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.248000	0.43160	0.695000	0.31675	0.561000	0.74099	CAA		0.388	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		A	169707624	C	A	169707624	3	1	591	1	0	0	0	0	1	0	0	0	10548	827	29	4	870	4	NOSTRIN	2	169707624	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	4155930	169707624	73491749	10	32227											
SLC25A12	8604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	172725235	172725235	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr2:172725235C>A	ENST00000422440.2	-	3	202	c.165G>T	c.(163-165)aaG>aaT	p.K55N	SLC25A12_ENST00000392592.4_5'UTR|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	55					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.K55N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GCTGCACGATCTTTGGGTTAC	0.398																																																1	Substitution - Missense(1)	kidney(1)											104	97	99					2																	172725235		2203	4300	6503	SO:0001583	missense	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.165G>T	2.37:g.172725235C>A	ENSP00000388658:p.Lys55Asn		B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985171	0.35036	.	.	ENSG00000115840	ENST00000422440	T	0.79454	-1.27	5.65	5.65	0.86999	EF-hand-like domain (1);	0.457800	0.26029	N	0.026777	T	0.71281	0.3321	L	0.57536	1.79	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.64914	-0.6295	10	0.34782	T	0.22	-3.1051	8.7043	0.34345	0.1545:0.7651:0.0:0.0804	.	55	O75746	CMC1_HUMAN	N	55	ENSP00000388658:K55N	ENSP00000263812:K55N	K	-	3	2	SLC25A12	172433481	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.685000	0.37659	2.941000	0.99782	0.655000	0.94253	AAG		0.398	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		A	172725235	C	A	172725235	3	1	591	1	0	0	0	0	1	0	0	0	14480	912	32	4	1935	4	SLC25A12	2	172725235	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	3017611	172725235	70474138	11	32228											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179468956	179468956	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr2:179468956C>T	ENST00000591111.1	-	232	49759	c.49535G>A	c.(49534-49536)tGc>tAc	p.C16512Y	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C9213Y|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C9088Y|TTN_ENST00000589042.1_Missense_Mutation_p.C18153Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C15585Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C9280Y			Q8WZ42	TITIN_HUMAN	titin	16512	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.C15585Y(2)|p.C9088Y(1)|p.C9280Y(1)|p.C9213Y(1)		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)			ATCTGATTTGCACTCATCACT	0.408																																																5	Substitution - Missense(5)	kidney(5)											96	92	93					2																	179468956		1907	4126	6033	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49535G>A	2.37:g.179468956C>T	ENSP00000465570:p.Cys16512Tyr		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	14.83	2.652036	0.47362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62639	0.01;0.25;0.23;0.22	6.17	6.17	0.99709	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79364	0.4433	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.78583	-0.2148	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	9088;9213;9280;16512	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	15585;9088;9280;9213;9088	ENSP00000343764:C15585Y;ENSP00000434586:C9088Y;ENSP00000340554:C9280Y;ENSP00000352154:C9213Y	ENSP00000340554:C9280Y	C	-	2	0	TTN	179177201	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.978000	0.70501	2.941000	0.99782	0.655000	0.94253	TGC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179468956	C	T	179468956	3	4	591	1	0	0	0	0	1	0	0	0	16740	710	25	2	53559	2	TTN	2	179468956	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	6743721	179468956	63730417	12	32229											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47125791	47125791	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr3:47125791A>G	ENST00000409792.3	-	12	5521	c.5479T>C	c.(5479-5481)Tgg>Cgg	p.W1827R	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1827					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.W1827R(1)|p.W1324R(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTCTGAGACCAGCGTTGAATA	0.403			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											85	76	79					3																	47125791		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5479T>C	3.37:g.47125791A>G	ENSP00000386759:p.Trp1827Arg		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882754	0.72410	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.23552	1.9	4.56	4.56	0.56223	.	0.000000	0.51477	D	0.000097	T	0.43055	0.1230	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.38950	-0.9637	10	0.87932	D	0	.	14.3831	0.66923	1.0:0.0:0.0:0.0	.	1827;1827	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1827	ENSP00000386759:W1827R	ENSP00000386759:W1827R	W	-	1	0	SETD2	47100795	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	8.683000	0.91236	2.036000	0.60181	0.528000	0.53228	TGG		0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		G	47125791	A	G	47125791	3	3	591	1	0	0	0	0	1	0	0	0	14137	188	7	3	2255	3	SETD2	3	47125791	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10		47125791	150896639	13	32230											
MBD4	8930	broad.mit.edu;ucsc.edu	37	3	129152727	129152727	+	Silent	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr3:129152727A>G	ENST00000249910.1	-	5	1552	c.1377T>C	c.(1375-1377)ctT>ctC	p.L459L	MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000393278.2_Silent_p.L141L|MBD4_ENST00000507208.1_Silent_p.L459L|MBD4_ENST00000503197.1_Silent_p.L459L|MBD4_ENST00000429544.2_Silent_p.L453L	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	459					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.L459L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TAGCGATGAGAAGCTTCCATG	0.428								Base excision repair (BER), DNA glycosylases																																								1	Substitution - coding silent(1)	kidney(1)											117	119	118					3																	129152727		2203	4300	6503	SO:0001819	synonymous_variant	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1377T>C	3.37:g.129152727A>G			B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000249910.1	37	CCDS3058.1																																																																																				0.428	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		G	129152727	A	G	129152727	2	3	591	1	0	0	0	0	0	0	0	1	9348	233	9	3		3	MBD4	3	129152727	Silent	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	82026936	129152727	68869703	14	32231											
CRIPAK	285464	broad.mit.edu;ucsc.edu	37	4	1388536	1388536	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:1388536G>A	ENST00000324803.4	+	1	3197	c.237G>A	c.(235-237)gtG>gtA	p.V79V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	79					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V79V(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCATGTGCCCATGTGGA	0.637																																																1	Substitution - coding silent(1)	kidney(1)											290	249	263					4																	1388536		2203	4300	6503	SO:0001819	synonymous_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.237G>A	4.37:g.1388536G>A			Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.637	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		A	1388536	G	A	1388536	2	1	591	1	0	0	0	0	0	0	0	1	3879	1306	46	2		2	CRIPAK	4	1388536	Silent	SNP	G	TCGA-CZ-5459-01A-01D-1501-10		1388536	189765740	15	32232											
RBPJ	3516	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	26430436	26430436	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:26430436A>G	ENST00000361572.6	+	8	1075	c.881A>G	c.(880-882)gAa>gGa	p.E294G	RBPJ_ENST00000342295.1_Missense_Mutation_p.E294G|RBPJ_ENST00000504907.1_Missense_Mutation_p.E280G|RBPJ_ENST00000355476.3_Missense_Mutation_p.E280G|RBPJ_ENST00000348160.4_Missense_Mutation_p.E281G|RBPJ_ENST00000345843.3_Missense_Mutation_p.E279G|RBPJ_ENST00000507561.1_Missense_Mutation_p.E259G|RBPJ_ENST00000342320.4_Missense_Mutation_p.E280G			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	294					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E281G(1)|p.E280G(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AAGGATACAGAAAGAATGTAT	0.323																																																2	Substitution - Missense(2)	kidney(2)											63	66	65					4																	26430436		2203	4298	6501	SO:0001583	missense	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.881A>G	4.37:g.26430436A>G	ENSP00000354528:p.Glu294Gly		B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.572951	0.65765	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000504907;ENST00000342320;ENST00000504423	T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.51	5.51	0.81932	Beta-trefoil (2);	0.046514	0.85682	D	0.000000	T	0.29976	0.0750	L	0.36672	1.1	0.80722	D	1	P;P;P;P;P;P	0.42649	0.633;0.754;0.673;0.622;0.622;0.786	B;B;B;B;B;B	0.42343	0.144;0.205;0.384;0.265;0.265;0.384	T	0.04140	-1.0974	10	0.49607	T	0.09	-25.5228	15.6036	0.76646	1.0:0.0:0.0:0.0	.	294;280;281;280;279;294	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	G	279;294;294;281;280;259;280;280;32	ENSP00000305815:E279G;ENSP00000345206:E294G;ENSP00000354528:E294G;ENSP00000339699:E281G;ENSP00000347659:E280G;ENSP00000423907:E259G;ENSP00000423703:E280G;ENSP00000340124:E280G;ENSP00000421804:E32G	ENSP00000345206:E294G	E	+	2	0	RBPJ	26039534	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.100000	0.63781	0.533000	0.62120	GAA		0.323	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		G	26430436	A	G	26430436	3	3	591	1	0	0	0	0	1	0	0	0	13167	246	9	3	974	3	RBPJ	4	26430436	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	25041900	26430436	164723840	16	32233											
LIN54	132660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83857207	83857207	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:83857207G>T	ENST00000340417.3	-	11	2149	c.1772C>A	c.(1771-1773)tCt>tAt	p.S591Y	LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000446851.2_Missense_Mutation_p.S370Y|LIN54_ENST00000442461.2_Missense_Mutation_p.S370Y|LIN54_ENST00000395283.2_Missense_Mutation_p.S502Y|LIN54_ENST00000505397.1_Missense_Mutation_p.S591Y|LIN54_ENST00000506560.1_Missense_Mutation_p.S502Y|LIN54_ENST00000510557.1_Missense_Mutation_p.S370Y	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	591	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.S591Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACGTCGATCAGATTCTCCCTC	0.403																																																1	Substitution - Missense(1)	kidney(1)											201	177	185					4																	83857207		2203	4300	6503	SO:0001583	missense	132660			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"CXC domain containing 1"	613367	"lin-54 homolog (C. elegans)"			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1772C>A	4.37:g.83857207G>T	ENSP00000341947:p.Ser591Tyr		Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239981	0.58995	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	L	0.58510	1.815	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.60789	0.879;0.795;0.854	T	0.75563	-0.3274	9	0.56958	D	0.05	-20.0349	19.0569	0.93069	0.0:0.0:1.0:0.0	.	502;463;591	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	Y	591;502;370;370;370;502;591	.	ENSP00000341947:S591Y	S	-	2	0	LIN54	84076231	1.000000	0.71417	0.979000	0.43373	0.006000	0.05464	9.581000	0.98210	2.732000	0.93576	0.650000	0.86243	TCT		0.403	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		T	83857207	G	T	83857207	3	4	591	1	0	0	0	0	1	0	0	0	8811	942	33	4	489	4	LIN54	4	83857207	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	57426771	83857207	107297069	17	32234											
PDE5A	8654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	120446851	120446851	+	Splice_Site	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:120446851C>A	ENST00000354960.3	-	12	1952		c.e12-1		PDE5A_ENST00000394439.1_Splice_Site|PDE5A_ENST00000512739.1_Splice_Site|PDE5A_ENST00000264805.5_Splice_Site|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific						blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.?(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	CCACAGCAGCCTTGGGTAAGG	0.408																																																1	Unknown(1)	kidney(1)											84	82	82					4																	120446851		2203	4300	6503	SO:0001630	splice_region_variant	8654			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1633-1G>T	4.37:g.120446851C>A			A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Splice_Site	SNP	ENST00000354960.3	37	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176176	0.78564	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9904	0.89166	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE5A	120666299	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.565000	0.82337	2.244000	0.73946	0.655000	0.94253	.		0.408	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083	Intron	A	120446851	C	A	120446851	5	1	591	1	0	0	0	0	0	0	1	0	11646	695	24	4	1035	4	PDE5A	4	120446851	Splice_Site	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	36589644	120446851	70707425	18	32235											
KIAA1109	84162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	123274224	123274224	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:123274224A>T	ENST00000264501.4	+	81	14388	c.14015A>T	c.(14014-14016)aAt>aTt	p.N4672I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.N4672I			Q2LD37	K1109_HUMAN	KIAA1109	4672					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N4672I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CATGGTCCAAATTTTCGTTCA	0.368																																																1	Substitution - Missense(1)	kidney(1)											119	107	111					4																	123274224		1845	4087	5932	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14015A>T	4.37:g.123274224A>T	ENSP00000264501:p.Asn4672Ile		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.601865|4.601865	0.87055|0.87055	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	.|T;T;T	.|0.53423	.|0.62;0.62;0.62	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Fragile site-associated protein, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68632|0.68632	0.3022|0.3022	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.996;0.999	T|T	0.72243|0.72243	-0.4350|-0.4350	5|10	.|0.87932	.|D	.|0	.|.	16.0429|16.0429	0.80698|0.80698	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|4671;4672	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	F|I	1048|4672;4672;1341;273	.|ENSP00000264501:N4672I;ENSP00000373390:N4672I;ENSP00000410874:N1341I	.|ENSP00000264501:N4672I	I|N	+|+	1|2	0|0	KIAA1109|KIAA1109	123493674|123493674	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.339000|9.339000	0.96797|0.96797	2.192000|2.192000	0.70111|0.70111	0.528000|0.528000	0.53228|0.53228	ATT|AAT		0.368	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		T	123274224	A	T	123274224	3	4	591	1	0	0	0	0	1	0	0	0	8210	101	4	5	14329	5	KIAA1109	4	123274224	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	2827373	123274224	67880052	19	32236											
CCRN4L	25819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	139966177	139966177	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:139966177T>C	ENST00000280614.2	+	3	1038	c.845T>C	c.(844-846)aTc>aCc	p.I282T	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	282					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I282T(1)		kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CAGTTCTGCATCGCTGTTACC	0.532																																					Ovarian(144;566 1842 19130 21379 22209)											1	Substitution - Missense(1)	kidney(1)											98	91	93					4																	139966177		2203	4300	6503	SO:0001583	missense	25819			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.845T>C	4.37:g.139966177T>C	ENSP00000280614:p.Ile282Thr		D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	ENST00000280614.2	37	CCDS3743.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389365	0.61956	.	.	ENSG00000151014	ENST00000280614	T	0.34667	1.35	5.5	5.5	0.81552	Endonuclease/exonuclease/phosphatase (2);	0.315734	0.34828	N	0.003657	T	0.34308	0.0893	L	0.59436	1.845	0.80722	D	1	P	0.41080	0.737	B	0.34590	0.186	T	0.15665	-1.0429	9	.	.	.	-14.3891	15.6018	0.76631	0.0:0.0:0.0:1.0	.	282	Q9UK39	NOCT_HUMAN	T	282	ENSP00000280614:I282T	.	I	+	2	0	CCRN4L	140185627	1.000000	0.71417	0.596000	0.28811	0.952000	0.60782	7.626000	0.83164	2.101000	0.63845	0.454000	0.30748	ATC		0.532	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		C	139966177	T	C	139966177	3	2	591	1	0	0	0	0	1	0	0	0	2953	1435	50	3	855	3	CCRN4L	4	139966177	Missense_Mutation	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	16691953	139966177	51188099	20	32237											
SORBS2	8470	broad.mit.edu;ucsc.edu	37	4	186545257	186545257	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:186545257G>C	ENST00000284776.7	-	13	1823	c.1314C>G	c.(1312-1314)atC>atG	p.I438M	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.I342M|SORBS2_ENST00000355634.5_Missense_Mutation_p.I538M|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.I438M|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	438					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.I438M(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACCTGTGTCTGATCCTTGATC	0.592																																					Esophageal Squamous(153;41 2433 9491 36028)											1	Substitution - Missense(1)	kidney(1)											78	73	75					4																	186545257		2203	4300	6503	SO:0001583	missense	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1314C>G	4.37:g.186545257G>C	ENSP00000284776:p.Ile438Met		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	3.071	-0.191206	0.06299	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.35421	1.42;1.42;1.31;1.41	5.76	-3.23	0.05109	.	1.012530	0.07884	N	0.969979	T	0.19846	0.0477	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27559	0.181;0.148;0.181	B;B;B	0.23852	0.045;0.049;0.045	T	0.20306	-1.0279	10	0.48119	T	0.1	-0.1933	8.7287	0.34485	0.2559:0.1747:0.5694:0.0	.	342;538;438	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	M	438;438;342;538	ENSP00000284776:I438M;ENSP00000411764:I438M;ENSP00000397482:I342M;ENSP00000347852:I538M	ENSP00000284776:I438M	I	-	3	3	SORBS2	186782251	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.465000	0.06680	-1.131000	0.02910	0.563000	0.77884	ATC		0.592	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		C	186545257	G	C	186545257	3	2	591	1	0	0	0	0	1	0	0	0	14934	1280	45	4	2024	4	SORBS2	4	186545257	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	46579080	186545257	4609019	21	32238											
LMBRD2	92255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	36136613	36136613	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:36136613A>G	ENST00000296603.4	-	6	1007	c.545T>C	c.(544-546)cTt>cCt	p.L182P		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	182						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L182P(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATTGTCTGAAGCTGGTTCCT	0.383																																																1	Substitution - Missense(1)	kidney(1)											108	104	105					5																	36136613		2203	4300	6503	SO:0001583	missense	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.545T>C	5.37:g.36136613A>G	ENSP00000296603:p.Leu182Pro		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624680	0.87560	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.34859	1.34	6.08	6.08	0.98989	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.70978	-0.4725	10	0.87932	D	0	-21.3853	16.6438	0.85155	1.0:0.0:0.0:0.0	.	182	Q68DH5	LMBD2_HUMAN	P	182;76	ENSP00000296603:L182P	ENSP00000296603:L182P	L	-	2	0	LMBRD2	36172370	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.793000	0.91862	2.333000	0.79357	0.533000	0.62120	CTT		0.383	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		G	36136613	A	G	36136613	3	3	591	1	0	0	0	0	1	0	0	0	8845	72	3	3	1594	3	LMBRD2	5	36136613	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10		36136613	144778647	22	32239											
C5orf42	65250	broad.mit.edu	37	5	37122589	37122589	+	Splice_Site	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:37122589A>G	ENST00000508244.1	-	46	8891	c.8798T>C	c.(8797-8799)cTt>cCt	p.L2933P	C5orf42_ENST00000425232.2_Splice_Site_p.L2933P|C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000274258.7_Splice_Site_p.L1831P			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2933						integral component of membrane (GO:0016021)		p.L2933P(1)|p.L1831P(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGTCATGTAAAGCTGCATAAA	0.348																																																2	Substitution - Missense(2)	kidney(2)											196	182	187					5																	37122589		2203	4300	6503	SO:0001630	splice_region_variant	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8797-1T>C	5.37:g.37122589A>G			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	17.03	3.285232	0.59867	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.9	4.67	0.58626	.	0.831259	0.11082	N	0.601729	T	0.47210	0.1433	L	0.29908	0.895	0.45342	D	0.998334	D;D	0.56035	0.974;0.969	P;P	0.54100	0.66;0.742	T	0.26155	-1.0111	10	0.41790	T	0.15	.	8.6637	0.34108	0.8305:0.0:0.0:0.1695	.	2933;1831	E9PH94;Q9H799	.;CE042_HUMAN	P	2933;2933;1831;1999	ENSP00000421690:L2933P;ENSP00000389014:L2933P;ENSP00000274258:L1831P;ENSP00000424223:L1999P	ENSP00000274258:L1831P	L	-	2	0	C5orf42	37158346	0.998000	0.40836	0.999000	0.59377	0.718000	0.41266	2.518000	0.45537	2.254000	0.74563	0.482000	0.46254	CTT		0.348	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	Missense_Mutation	G	37122589	A	G	37122589	5	3	591	1	0	0	0	0	0	0	1	0	2303	86	3	3	819	3	C5orf42	5	37122589	Splice_Site	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	985976	37122589	143792671	23	32240											
DAB2	1601	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	39383077	39383077	+	Silent	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:39383077A>G	ENST00000320816.6	-	10	1451	c.984T>C	c.(982-984)tcT>tcC	p.S328S	DAB2_ENST00000509337.1_Silent_p.S307S|DAB2_ENST00000545653.1_Silent_p.S307S|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000339788.6_Intron	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	328	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.S328S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TCAGCGGAGTAGACGAGCTAC	0.483																																																1	Substitution - coding silent(1)	kidney(1)											100	103	102					5																	39383077		2203	4300	6503	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.984T>C	5.37:g.39383077A>G			A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		G	39383077	A	G	39383077	2	3	591	1	0	0	0	0	0	0	0	1	4220	407	15	3		3	DAB2	5	39383077	Silent	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	2260488	39383077	141532183	24	32241											
NUDT12	83594	broad.mit.edu;hgsc.bcm.edu	37	5	102891795	102891795	+	Silent	SNP	A	A	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:102891795A>C	ENST00000230792.2	-	4	897	c.801T>G	c.(799-801)gtT>gtG	p.V267V	NUDT12_ENST00000507423.1_Silent_p.V249V|NUDT12_ENST00000515407.1_5'Flank	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	267					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)	p.V267V(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CTTGAGCTACAACCCCTTCAA	0.333																																																1	Substitution - coding silent(1)	kidney(1)											65	62	63					5																	102891795		2202	4300	6502	SO:0001819	synonymous_variant	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.801T>G	5.37:g.102891795A>C			B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	CCDS4096.1																																																																																				0.333	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		C	102891795	A	C	102891795	2	2	591	1	0	0	0	0	0	0	0	1	10730	117	5	5		5	NUDT12	5	102891795	Silent	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	63508718	102891795	78023465	25	32242											
MYOT	9499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137222571	137222571	+	Silent	SNP	T	T	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:137222571T>A	ENST00000239926.4	+	9	1583	c.1209T>A	c.(1207-1209)acT>acA	p.T403T	MYOT_ENST00000421631.2_Silent_p.T219T|PKD2L2_ENST00000508638.1_5'Flank|MYOT_ENST00000515645.1_Silent_p.T288T|PKD2L2_ENST00000290431.5_5'Flank|RP11-381K20.2_ENST00000514616.1_RNA|PKD2L2_ENST00000508883.1_5'Flank|PKD2L2_ENST00000350250.4_5'Flank|RP11-381K20.2_ENST00000508281.2_RNA|PKD2L2_ENST00000502810.1_5'Flank	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	403	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.T403T(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGATAACACTGGAAGAGTTA	0.348																																																1	Substitution - coding silent(1)	kidney(1)											54	58	57					5																	137222571		2203	4299	6502	SO:0001819	synonymous_variant	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1209T>A	5.37:g.137222571T>A			A0A4R6|B4DT79	Silent	SNP	ENST00000239926.4	37	CCDS4194.1																																																																																				0.348	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		A	137222571	T	A	137222571	2	1	591	1	0	0	0	0	0	0	0	1	10096	1567	55	5		5	MYOT	5	137222571	Silent	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	34330776	137222571	43692689	26	32243											
CTNNA1	1495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138147874	138147874	+	Silent	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:138147874G>T	ENST00000302763.7	+	5	561	c.471G>T	c.(469-471)gtG>gtT	p.V157V	CTNNA1_ENST00000518825.1_Silent_p.V157V|CTNNA1_ENST00000355078.5_Silent_p.V54V	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	157	Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.V157V(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTTATAGGTGGAAGATGGTA	0.378																																																1	Substitution - coding silent(1)	kidney(1)											96	98	97					5																	138147874		2203	4300	6503	SO:0001819	synonymous_variant	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.471G>T	5.37:g.138147874G>T			Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	CCDS34243.1																																																																																				0.378	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		T	138147874	G	T	138147874	2	4	591	1	0	0	0	0	0	0	0	1	4014	1335	47	4		4	CTNNA1	5	138147874	Silent	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	925303	138147874	42767386	27	32244											
RNF14	9604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141354483	141354483	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:141354483C>T	ENST00000394520.2	+	4	578	c.269C>T	c.(268-270)tCa>tTa	p.S90L	RNF14_ENST00000394519.1_Missense_Mutation_p.S90L|RNF14_ENST00000347642.3_Missense_Mutation_p.S90L|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000502341.1_Intron|RNF14_ENST00000394514.2_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Missense_Mutation_p.S90L|RNF14_ENST00000356143.1_Missense_Mutation_p.S90L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	90	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S90L(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCCCCACCTTCATTCACACTT	0.393																																																1	Substitution - Missense(1)	kidney(1)											172	155	160					5																	141354483		2203	4300	6503	SO:0001583	missense	9604			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.269C>T	5.37:g.141354483C>T	ENSP00000378028:p.Ser90Leu		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471362	0.43942	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000513019;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000394515;ENST00000507163;ENST00000394519	T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.57	5.57	0.84162	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.241819	0.42420	D	0.000710	T	0.17195	0.0413	N	0.02539	-0.55	0.35606	D	0.808262	B;B	0.13145	0.007;0.001	B;B	0.11329	0.006;0.005	T	0.19549	-1.0302	10	0.23891	T	0.37	.	15.0663	0.71999	0.0:0.93:0.0:0.07	.	90;90	B7Z229;Q9UBS8	.;RNF14_HUMAN	L	90	ENSP00000423420:S90L;ENSP00000423273:S90L;ENSP00000421780:S90L;ENSP00000348462:S90L;ENSP00000378028:S90L;ENSP00000324956:S90L;ENSP00000420837:S90L;ENSP00000378023:S90L;ENSP00000422527:S90L;ENSP00000378027:S90L	ENSP00000324956:S90L	S	+	2	0	RNF14	141334667	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.757000	0.38400	2.774000	0.95407	0.650000	0.86243	TCA		0.393	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		T	141354483	C	T	141354483	3	4	591	1	0	0	0	0	1	0	0	0	13449	838	29	2	275	2	RNF14	5	141354483	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	3206609	141354483	39560777	28	32245											
EHMT2	10919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	31848507	31848507	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr6:31848507C>T	ENST00000375537.4	-	27	3401	c.3395G>A	c.(3394-3396)cGa>cAa	p.R1132Q	SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000395728.3_Missense_Mutation_p.R1189Q|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.R1155Q|SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1098Q|SLC44A4_ENST00000465707.1_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1132	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.R1132Q(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCGTGGAAATCGCAGGTCTTG	0.577																																																1	Substitution - Missense(1)	kidney(1)											149	122	131					6																	31848507		2203	4300	6503	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3395G>A	6.37:g.31848507C>T	ENSP00000364687:p.Arg1132Gln		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168344	0.78339	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	4.21	4.21	0.49690	SET domain (3);	0.000000	0.64402	D	0.000003	D	0.89044	0.6603	M	0.73598	2.24	0.58432	D	0.999995	D;D;D;D	0.89917	0.964;0.99;0.998;1.0	B;P;P;D	0.83275	0.259;0.647;0.885;0.996	D	0.90427	0.4421	10	0.87932	D	0	.	15.8428	0.78864	0.0:1.0:0.0:0.0	.	1155;1098;1132;953	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	Q	1189;1155;1098;1132;953	ENSP00000379078:R1189Q;ENSP00000364678:R1155Q;ENSP00000364680:R1098Q;ENSP00000364687:R1132Q	ENSP00000364678:R1155Q	R	-	2	0	EHMT2	31956486	1.000000	0.71417	0.739000	0.30968	0.944000	0.59088	7.194000	0.77789	2.355000	0.79922	0.561000	0.74099	CGA		0.577	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		T	31848507	C	T	31848507	3	4	591	1	0	0	0	0	1	0	0	0	4986	884	31	1	245	1	EHMT2	6	31848507	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10		31848507	139266560	29	32246											
FKBPL	63943	broad.mit.edu;ucsc.edu	37	6	32096783	32096783	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr6:32096783C>G	ENST00000375156.3	-	2	1045	c.775G>C	c.(775-777)Gct>Cct	p.A259P	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	259					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A259P(1)									TGACAGGCAGCCAGATTGGCA	0.597																																																1	Substitution - Missense(1)	kidney(1)											48	52	50					6																	32096783		2203	4300	6503	SO:0001583	missense	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.775G>C	6.37:g.32096783C>G	ENSP00000364298:p.Ala259Pro		A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876612	0.91664	.	.	ENSG00000204315	ENST00000375156	T	0.74002	-0.8	5.51	5.51	0.81932	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.44285	D	0.000465	D	0.88400	0.6426	M	0.93062	3.375	0.49687	D	0.999818	D	0.89917	1.0	D	0.91635	0.999	D	0.90142	0.4214	10	0.87932	D	0	-8.0589	16.9624	0.86275	0.0:1.0:0.0:0.0	.	259	Q9UIM3	FKBPL_HUMAN	P	259	ENSP00000364298:A259P	ENSP00000364298:A259P	A	-	1	0	FKBPL	32204761	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.393000	0.52544	2.873000	0.98535	0.561000	0.74099	GCT		0.597	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			G	32096783	C	G	32096783	3	3	591	1	0	0	0	0	1	0	0	0	5918	739	26	4	278	4	FKBPL	6	32096783	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	248276	32096783	139018284	30	32247											
XPO5	57510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43493658	43493658	+	Splice_Site	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr6:43493658A>G	ENST00000265351.7	-	28	3195	c.2985T>C	c.(2983-2985)gaT>gaC	p.D995D	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	995					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.D995D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCATTTCTTCATCTGTTATCA	0.453																																																1	Substitution - coding silent(1)	kidney(1)											93	91	91					6																	43493658		1907	4132	6039	SO:0001630	splice_region_variant	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2984-1T>C	6.37:g.43493658A>G			Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381913	0.24944	.	.	ENSG00000124571	ENST00000455285	.	.	.	6.07	3.66	0.41972	.	.	.	.	.	T	0.41143	0.1146	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37079	-0.9721	4	.	.	.	.	6.1903	0.20520	0.724:0.136:0.14:0.0	.	.	.	.	T	110	.	.	M	-	2	0	XPO5	43601636	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.115000	0.41921	1.073000	0.40885	0.533000	0.62120	ATG		0.453	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750	Silent	G	43493658	A	G	43493658	5	3	591	1	0	0	0	0	0	0	1	0	17452	231	8	3	649	3	XPO5	6	43493658	Splice_Site	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	11396875	43493658	127621409	31	32248											
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56417328	56417328	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr6:56417328T>G	ENST00000361203.3	-	57	15636	c.15629A>C	c.(15628-15630)cAa>cCa	p.Q5210P	DST_ENST00000421834.2_Missense_Mutation_p.Q3124P|DST_ENST00000244364.6_Missense_Mutation_p.Q2798P|DST_ENST00000446842.2_Missense_Mutation_p.Q4886P|DST_ENST00000370754.5_Missense_Mutation_p.Q5390P|DST_ENST00000370788.2_Missense_Mutation_p.Q3124P|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.Q5212P			Q03001	DYST_HUMAN	dystonin	5210					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q5212P(1)|p.Q2798P(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTTTCCTTTTGCTTTTGCAA	0.408																																																2	Substitution - Missense(2)	kidney(2)											57	53	54					6																	56417328		1863	4092	5955	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15629A>C	6.37:g.56417328T>G	ENSP00000354508:p.Gln5210Pro		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	16.12	3.034214	0.54896	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	6.17	6.17	0.99709	.	0.000000	0.52532	D	0.000075	T	0.61362	0.2341	M	0.81341	2.54	0.29262	N	0.871232	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.998	D;D;D;D;D	0.91635	0.99;0.993;0.999;0.994;0.976	T	0.65134	-0.6242	9	0.54805	T	0.06	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	3124;5212;5390;5210;2798	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	P	2798;5390;5212;3124;4886;3124;5210	ENSP00000244364:Q2798P;ENSP00000359790:Q5390P;ENSP00000359805:Q5212P;ENSP00000400883:Q3124P;ENSP00000393645:Q4886P;ENSP00000359824:Q3124P;ENSP00000354508:Q5210P	ENSP00000244364:Q2798P	Q	-	2	0	DST	56525287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CAA		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56417328	T	G	56417328	3	3	591	1	0	0	0	0	1	0	0	0	4785	1812	63	5	7294	5	DST	6	56417328	Missense_Mutation	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	12923670	56417328	114697739	32	32249											
MAP3K4	4216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	161523807	161523807	+	Silent	SNP	T	T	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr6:161523807T>C	ENST00000392142.4	+	19	4000	c.3852T>C	c.(3850-3852)agT>agC	p.S1284S	MAP3K4_ENST00000366919.2_Silent_p.S1234S|MAP3K4_ENST00000366920.2_Silent_p.S1280S|MAP3K4_ENST00000348824.7_Silent_p.S1230S	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1284					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.S1284S(1)|p.S1283S(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCAGCCAGAGTAAAGGTGAGA	0.363																																																2	Substitution - coding silent(2)	kidney(2)											41	40	40					6																	161523807		2203	4300	6503	SO:0001819	synonymous_variant	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3852T>C	6.37:g.161523807T>C			A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																				0.363	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			C	161523807	T	C	161523807	2	2	591	1	0	0	0	0	0	0	0	1	9254	1635	57	3		3	MAP3K4	6	161523807	Silent	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	105106479	161523807	9591260	33	32250											
PHF14	9678	broad.mit.edu	37	7	11076624	11076624	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:11076624G>C	ENST00000403050.3	+	10	2338	c.1886G>C	c.(1885-1887)cGc>cCc	p.R629P	PHF14_ENST00000445996.2_Missense_Mutation_p.R344P	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	629					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R629P(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAAATATGCGCATGATTCAA	0.269																																																1	Substitution - Missense(1)	kidney(1)											36	31	32					7																	11076624		1768	4034	5802	SO:0001583	missense	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1886G>C	7.37:g.11076624G>C	ENSP00000385795:p.Arg629Pro		A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464141	0.84425	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.73789	-0.52;-0.78	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.998;0.996	D;D;D;P	0.79108	0.991;0.969;0.992;0.835	T	0.82386	-0.0483	10	0.72032	D	0.01	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	344;344;629;629	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	P	629;344	ENSP00000385795:R629P;ENSP00000403907:R344P	ENSP00000385795:R629P	R	+	2	0	PHF14	11043149	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.452000	0.97615	2.780000	0.95670	0.655000	0.94253	CGC		0.269	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		C	11076624	G	C	11076624	3	2	591	1	0	0	0	0	1	0	0	0	11827	1087	38	4	1924	4	PHF14	7	11076624	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10		11076624	148062039	34	32251											
GPR141	353345	hgsc.bcm.edu;ucsc.edu	37	7	37780555	37780555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:37780555delT	ENST00000447769.1	+	4	849	c.560delT	c.(559-561)attfs	p.I187fs	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Frame_Shift_Del_p.I187fs			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGATAGTCATTTTTGTCATA	0.403																																																0													181	163	169					7																	37780555		2203	4300	6503	SO:0001589	frameshift_variant	353345			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.560delT	7.37:g.37780555delT	ENSP00000390410:p.Ile187fs		A4D1X7|Q0VAR5|Q86SP3	Frame_Shift_Del	DEL	ENST00000447769.1	37	CCDS5451.1																																																																																				0.403	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		-	37780555	T	-	37780555	7	5	591	1	0	1	0	1	0	0	0	0	6651	1493	52	0	562	0	GPR141	7	37780555	Frame_Shift_Del	DEL	T	TCGA-CZ-5459-01A-01D-1501-10	26703931	37780555	121358108	35	32252											
URGCP	55665	broad.mit.edu;hgsc.bcm.edu	37	7	43916855	43916855	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:43916855G>T	ENST00000453200.1	-	6	2700	c.2207C>A	c.(2206-2208)gCt>gAt	p.A736D	URGCP_ENST00000443736.1_Missense_Mutation_p.A693D|URGCP_ENST00000402306.3_Missense_Mutation_p.A727D|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Missense_Mutation_p.A693D|URGCP_ENST00000223341.7_Missense_Mutation_p.A693D|URGCP_ENST00000447717.3_Missense_Mutation_p.A693D|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	736	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.A736D(1)|p.A693D(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCCCTCAGCCACTGTGAT	0.602																																																2	Substitution - Missense(2)	kidney(2)											40	43	42					7																	43916855		2071	4221	6292	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2207C>A	7.37:g.43916855G>T	ENSP00000396918:p.Ala736Asp		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224107	0.39300	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.51	5.51	0.81932	.	0.524984	0.21208	N	0.078353	T	0.54319	0.1851	L	0.46157	1.445	0.09310	N	1	B;B	0.23185	0.081;0.081	B;B	0.18561	0.022;0.022	T	0.47824	-0.9087	10	0.41790	T	0.15	-10.8219	11.909	0.52729	0.0:0.0:0.8258:0.1742	.	727;736	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	D	693;693;727;693;736;693	ENSP00000223341:A693D;ENSP00000336872:A693D;ENSP00000384955:A727D;ENSP00000392136:A693D;ENSP00000396918:A736D;ENSP00000402803:A693D	ENSP00000223341:A693D	A	-	2	0	URGCP	43883380	0.002000	0.14202	0.955000	0.39395	0.983000	0.72400	1.186000	0.32078	2.586000	0.87340	0.591000	0.81541	GCT		0.602	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		T	43916855	G	T	43916855	3	4	591	1	0	0	0	0	1	0	0	0	17031	971	34	4	592	4	URGCP	7	43916855	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	6136300	43916855	115221808	36	32253											
CLIP2	7461	broad.mit.edu	37	7	73771615	73771615	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:73771615delG	ENST00000395060.1	+	5	1023	c.1023delG	c.(1021-1023)acgfs	p.T341fs	CLIP2_ENST00000361545.5_Frame_Shift_Del_p.T341fs|CLIP2_ENST00000223398.6_Frame_Shift_Del_p.T341fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	341	Ser-rich.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGCAGCTCACGGAGACCTCTT	0.597																																																0													55	35	42					7																	73771615		2203	4300	6503	SO:0001589	frameshift_variant	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1023delG	7.37:g.73771615delG	ENSP00000378500:p.Thr341fs		O14527|O43611	Frame_Shift_Del	DEL	ENST00000395060.1	37	CCDS5569.1																																																																																				0.597	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		-	73771615	G	-	73771615	7	5	591	1	0	1	0	1	0	0	0	0	3535	1103	39	0	1041	0	CLIP2	7	73771615	Frame_Shift_Del	DEL	G	TCGA-CZ-5459-01A-01D-1501-10	29854760	73771615	85367048	37	32254											
CUX1	1523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	101747717	101747717	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:101747717A>G	ENST00000292535.7	+	6	546	c.508A>G	c.(508-510)Aat>Gat	p.N170D	CUX1_ENST00000550008.2_Missense_Mutation_p.N170D|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.N170D|CUX1_ENST00000393824.3_Missense_Mutation_p.N144D|CUX1_ENST00000437600.4_Missense_Mutation_p.N181D|CUX1_ENST00000360264.3_Missense_Mutation_p.N181D|CUX1_ENST00000549414.2_Missense_Mutation_p.N170D|CUX1_ENST00000547394.2_Missense_Mutation_p.N165D|CUX1_ENST00000425244.2_Missense_Mutation_p.N135D|CUX1_ENST00000556210.1_Missense_Mutation_p.N170D|CUX1_ENST00000292538.4_Missense_Mutation_p.N181D	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	170					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.N170D(1)|p.N181D(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAAGTTACAGAATGACTTTGC	0.418																																																2	Substitution - Missense(2)	kidney(2)											205	178	187					7																	101747717		2203	4300	6503	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.508A>G	7.37:g.101747717A>G	ENSP00000292535:p.Asn170Asp		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988938	0.53934	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.77489	1.05;1.05;1.05;1.49;1.05;1.05;-1.1;1.05;1.05;1.05	5.8	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	L	0.36672	1.1	0.54753	D	0.999981	B;B;B;B;P;B;B	0.36837	0.435;0.012;0.007;0.021;0.571;0.017;0.021	B;B;B;B;B;B;B	0.33960	0.057;0.006;0.004;0.008;0.173;0.009;0.013	T	0.64037	-0.6501	10	0.36615	T	0.2	-22.4589	11.6109	0.51059	0.9309:0.0:0.0691:0.0	.	144;170;135;165;181;181;181	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	D	181;165;181;135;181;170;170;170;170;170	ENSP00000292538:N181D;ENSP00000449371:N165D;ENSP00000353401:N181D;ENSP00000409745:N135D;ENSP00000414091:N181D;ENSP00000292535:N170D;ENSP00000446630:N170D;ENSP00000447373:N170D;ENSP00000450125:N170D;ENSP00000451558:N170D	ENSP00000292535:N170D	N	+	1	0	CUX1	101534437	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.911000	0.69939	1.041000	0.40125	0.459000	0.35465	AAT		0.418	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		G	101747717	A	G	101747717	3	3	591	1	0	0	0	0	1	0	0	0	4066	246	9	3	597	3	CUX1	7	101747717	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	27976102	101747717	57390946	38	32255											
OR2F1	26211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	143657717	143657717	+	Silent	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:143657717C>T	ENST00000392899.1	+	1	691	c.654C>T	c.(652-654)taC>taT	p.Y218Y	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	218					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y218Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTTTGTCCTACATCCAGATCA	0.502																																																1	Substitution - coding silent(1)	kidney(1)											212	190	198					7																	143657717		2203	4300	6503	SO:0001819	synonymous_variant	26211			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.654C>T	7.37:g.143657717C>T			A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	CCDS5887.1																																																																																				0.502	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			T	143657717	C	T	143657717	2	4	591	1	0	0	0	0	0	0	0	1	10998	489	17	2		2	OR2F1	7	143657717	Silent	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	41910000	143657717	15480946	39	32256											
ATG9B	285973	broad.mit.edu	37	7	150714122	150714122	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:150714122C>T	ENST00000494791.1	-	9	2365		c.e9+1		ATG9B_ENST00000444312.1_Splice_Site|ATG9B_ENST00000377974.2_Splice_Site|ATG9B_ENST00000605938.1_Splice_Site			Q674R7	ATG9B_HUMAN	autophagy related 9B						autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.?(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGGGACTCACCAGGGGCGAG	0.652																																																1	Unknown(1)	kidney(1)											9	13	12					7																	150714122		1997	4127	6124	SO:0001630	splice_region_variant	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000494791.1:c.2206+1G>A	7.37:g.150714122C>T			A1A5D3|Q6JRW5|Q8N8I8	Splice_Site	SNP	ENST00000494791.1	37		.	.	.	.	.	.	.	.	.	.	C	12.92	2.082486	0.36758	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5113	0.84286	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC010973.1	150345055	1.000000	0.71417	0.981000	0.43875	0.298000	0.27526	4.184000	0.58323	2.485000	0.83878	0.561000	0.74099	.		0.652	ATG9B-001	KNOWN	non_canonical_U12|basic	processed_transcript	protein_coding	OTTHUMT00000351543.2	NM_173681	Intron	T	150714122	C	T	150714122	5	4	591	1	0	0	0	0	0	0	1	0	1103	521	18	2	503	2	ATG9B	7	150714122	Splice_Site	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	7056405	150714122	8424541	40	32257											
MTUS1	57509	hgsc.bcm.edu	37	8	17573333	17573333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr8:17573333delA	ENST00000262102.6	-	5	2751	c.2527delT	c.(2527-2529)tatfs	p.Y843fs	MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000519263.1_Frame_Shift_Del_p.Y789fs|MTUS1_ENST00000381861.3_Frame_Shift_Del_p.Y90fs|MTUS1_ENST00000381869.3_Frame_Shift_Del_p.Y789fs	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	843					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGCTTCAAATAAAAGGATCCT	0.428																																																0													157	152	154					8																	17573333		1835	4086	5921	SO:0001589	frameshift_variant	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2527delT	8.37:g.17573333delA	ENSP00000262102:p.Tyr843fs		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Frame_Shift_Del	DEL	ENST00000262102.6	37	CCDS43717.1																																																																																				0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		-	17573333	A	-	17573333	7	5	591	1	0	1	0	1	0	0	0	0	9967	362	13	0	1454	0	MTUS1	8	17573333	Frame_Shift_Del	DEL	A	TCGA-CZ-5459-01A-01D-1501-10		17573333	128790689	41	32258											
GFRA2	2675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	21563505	21563505	+	Silent	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr8:21563505C>T	ENST00000524240.1	-	5	1493	c.843G>A	c.(841-843)acG>acA	p.T281T	GFRA2_ENST00000518077.1_Silent_p.T148T|GFRA2_ENST00000517328.1_Silent_p.T281T|GFRA2_ENST00000400782.4_Silent_p.T176T	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	281					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)	p.T281T(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		AGCTGGTGACCGTCTGGTAGG	0.577																																																1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	2675			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.843G>A	8.37:g.21563505C>T			E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Silent	SNP	ENST00000524240.1	37	CCDS47816.1																																																																																				0.577	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		T	21563505	C	T	21563505	2	4	591	1	0	0	0	0	0	0	0	1	6350	639	23	1		1	GFRA2	8	21563505	Silent	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	3990172	21563505	124800517	42	32259											
ARFGEF1	10565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	68178355	68178355	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr8:68178355G>A	ENST00000262215.3	-	14	2398	c.2009C>T	c.(2008-2010)tCa>tTa	p.S670L	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S124L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	670					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.S670L(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGATGATGTTGACTCCAGGGA	0.388																																																1	Substitution - Missense(1)	kidney(1)											165	153	157					8																	68178355		2202	4300	6502	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2009C>T	8.37:g.68178355G>A	ENSP00000262215:p.Ser670Leu		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508751	0.96386	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.22336	2.82;1.96	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	M	0.69185	2.1	0.80722	D	1	D;P	0.76494	0.999;0.81	D;B	0.72982	0.979;0.389	T	0.13764	-1.0497	10	0.33141	T	0.24	.	19.5844	0.95485	0.0:0.0:1.0:0.0	.	670;124	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	L	124;670	ENSP00000428429:S124L;ENSP00000262215:S670L	ENSP00000262215:S670L	S	-	2	0	ARFGEF1	68340909	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.771000	0.98977	2.638000	0.89438	0.585000	0.79938	TCA		0.388	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		A	68178355	G	A	68178355	3	1	591	1	0	0	0	0	1	0	0	0	852	1294	45	2	3644	2	ARFGEF1	8	68178355	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	46614850	68178355	78185667	43	32260											
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106814187	106814187	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr8:106814187T>G	ENST00000407775.2	+	8	2127	c.1877T>G	c.(1876-1878)aTc>aGc	p.I626S	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.I357S|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.I494S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.I494S|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	626					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I626S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACATCTTGCATCAATTCTTCC	0.448																																																1	Substitution - Missense(1)	kidney(1)											87	82	84					8																	106814187		1900	4143	6043	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1877T>G	8.37:g.106814187T>G	ENSP00000384179:p.Ile626Ser		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249304	0.39797	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20069	2.1;2.56;2.56;3.81	5.86	5.86	0.93980	.	0.219510	0.46758	D	0.000279	T	0.16257	0.0391	L	0.27053	0.805	0.51767	D	0.999937	B	0.20550	0.046	B	0.24541	0.054	T	0.08086	-1.0739	10	0.10377	T	0.69	.	16.2479	0.82454	0.0:0.0:0.0:1.0	.	626	Q8WW38	FOG2_HUMAN	S	626;494;494;357	ENSP00000384179:I626S;ENSP00000430757:I494S;ENSP00000428720:I494S;ENSP00000367733:I357S	ENSP00000367733:I357S	I	+	2	0	ZFPM2	106883363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.241000	0.73720	0.533000	0.62120	ATC		0.448	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			G	106814187	T	G	106814187	3	3	591	1	0	0	0	0	1	0	0	0	17663	1435	50	5	1907	5	ZFPM2	8	106814187	Missense_Mutation	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	38635832	106814187	39549835	44	32261											
NDUFB9	4715	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125562076	125562076	+	Silent	SNP	T	T	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr8:125562076T>A	ENST00000276689.3	+	4	567	c.483T>A	c.(481-483)ggT>ggA	p.G161G	NDUFB9_ENST00000517830.1_Splice_Site|NDUFB9_ENST00000522532.1_Intron|NDUFB9_ENST00000517367.1_Silent_p.G150G	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	161					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.G161G(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAAGGAAGGTGATTTGCCCC	0.517																																																1	Substitution - coding silent(1)	kidney(1)											72	64	67					8																	125562076		2203	4300	6503	SO:0001819	synonymous_variant	4715			AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7704	protein-coding gene	gene with protein product	"complex I B22 subunit"	601445	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.483T>A	8.37:g.125562076T>A			B2R8M6|Q9UQE8	Silent	SNP	ENST00000276689.3	37	CCDS6352.1																																																																																				0.517	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		A	125562076	T	A	125562076	2	1	591	1	0	0	0	0	0	0	0	1	10290	1683	59	5		5	NDUFB9	8	125562076	Silent	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	18747889	125562076	20801946	45	32262											
KDM4C	23081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	7013979	7013979	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr9:7013979G>A	ENST00000381309.3	+	14	2725	c.2160G>A	c.(2158-2160)aaG>aaA	p.K720K	KDM4C_ENST00000381306.3_Silent_p.K720K|KDM4C_ENST00000535193.1_Silent_p.K742K|KDM4C_ENST00000536108.1_Silent_p.K539K|KDM4C_ENST00000543771.1_Silent_p.K720K|KDM4C_ENST00000428870.2_Silent_p.K407K|KDM4C_ENST00000442236.2_Silent_p.K465K	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	720					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.K720K(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CCTGTGCAAAGTGCTGCGTAC	0.368																																																2	Substitution - coding silent(2)	kidney(2)											127	124	125					9																	7013979		2203	4300	6503	SO:0001819	synonymous_variant	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2160G>A	9.37:g.7013979G>A			B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	CCDS6471.1																																																																																				0.368	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		A	7013979	G	A	7013979	2	1	591	1	0	0	0	0	0	0	0	1	8132	1020	36	2		2	KDM4C	9	7013979	Silent	SNP	G	TCGA-CZ-5459-01A-01D-1501-10		7013979	134199452	46	32263											
UBAP2	55833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	33941709	33941709	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr9:33941709G>T	ENST00000379238.1	-	16	1984	c.1867C>A	c.(1867-1869)Cat>Aat	p.H623N	UBAP2_ENST00000418786.2_Missense_Mutation_p.H570N|UBAP2_ENST00000539807.1_Missense_Mutation_p.H378N|UBAP2_ENST00000449054.1_Missense_Mutation_p.H623N|UBAP2_ENST00000360802.1_Missense_Mutation_p.H623N|UBAP2_ENST00000379239.4_Missense_Mutation_p.H356N|UBAP2_ENST00000379225.1_Missense_Mutation_p.H256N					ubiquitin associated protein 2									p.H623N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATCCTGTTATGCACAGAACTC	0.438																																																1	Substitution - Missense(1)	kidney(1)											133	121	125					9																	33941709		2203	4300	6503	SO:0001583	missense	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1867C>A	9.37:g.33941709G>T	ENSP00000368540:p.His623Asn			Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575140	0.86542	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.25912	2.7;2.7;2.7;2.49;2.49;2.15;1.77	6.03	6.03	0.97812	.	0.046300	0.85682	D	0.000000	T	0.52773	0.1755	M	0.73962	2.25	0.58432	D	0.999999	P;D;P;P;P;D;D;D	0.76494	0.763;0.999;0.634;0.763;0.763;0.998;0.999;0.998	B;D;B;B;B;D;D;D	0.83275	0.382;0.996;0.295;0.295;0.382;0.986;0.991;0.991	T	0.30995	-0.9959	10	0.19147	T	0.46	-4.0376	20.5568	0.99304	0.0:0.0:1.0:0.0	.	570;548;378;356;532;256;548;623	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	N	623;623;623;532;356;378;570;256	ENSP00000368540:H623N;ENSP00000416932:H623N;ENSP00000354039:H623N;ENSP00000368541:H356N;ENSP00000439329:H378N;ENSP00000404436:H570N;ENSP00000368527:H256N	ENSP00000354039:H623N	H	-	1	0	UBAP2	33931709	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	6.746000	0.74866	2.861000	0.98227	0.655000	0.94253	CAT		0.438	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		T	33941709	G	T	33941709	3	4	591	1	0	0	0	0	1	0	0	0	16842	1319	46	4	1548	4	UBAP2	9	33941709	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	26927730	33941709	107271722	47	32264											
RC3H2	54542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125639776	125639776	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr9:125639776delA	ENST00000373670.1	-	8	1899	c.1299delT	c.(1297-1299)tttfs	p.F433fs	RC3H2_ENST00000357244.2_Frame_Shift_Del_p.F433fs|RC3H2_ENST00000423239.2_Frame_Shift_Del_p.F433fs|RC3H2_ENST00000373665.2_Frame_Shift_Del_p.F433fs|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000335387.5_Frame_Shift_Del_p.F433fs			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	433					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAGAATGGGCAAATGTACAAT	0.398																																																0													294	284	287					9																	125639776		1858	4096	5954	SO:0001589	frameshift_variant	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1299delT	9.37:g.125639776delA	ENSP00000362774:p.Phe433fs		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Frame_Shift_Del	DEL	ENST00000373670.1	37	CCDS43874.1																																																																																				0.398	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		-	125639776	A	-	125639776	7	5	591	1	0	1	0	1	0	0	0	0	13173	127	5	0	2406	0	RC3H2	9	125639776	Frame_Shift_Del	DEL	A	TCGA-CZ-5459-01A-01D-1501-10	91698067	125639776	15573655	48	32265											
TALDO1	6888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	763505	763505	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:763505C>A	ENST00000319006.3	+	5	776	c.623C>A	c.(622-624)cCc>cAc	p.P208H	TALDO1_ENST00000528097.1_Missense_Mutation_p.P208H			P37837	TALDO_HUMAN	transaldolase 1	208					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)	p.P208H(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TCCTATGAGCCCCTGGAAGAC	0.607																																																1	Substitution - Missense(1)	kidney(1)											94	101	98					11																	763505		2203	4300	6503	SO:0001583	missense	6888				CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.623C>A	11.37:g.763505C>A	ENSP00000321259:p.Pro208His		B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567975	0.86439	.	.	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.85702	-2.02;-2.02	4.8	4.8	0.61643	Aldolase-type TIM barrel (1);	0.100137	0.64402	D	0.000001	D	0.92919	0.7747	M	0.88181	2.935	0.80722	D	1	D;P	0.63880	0.993;0.948	D;P	0.63957	0.92;0.796	D	0.94346	0.7575	10	0.87932	D	0	0.3964	17.0162	0.86420	0.0:1.0:0.0:0.0	.	208;208	F2Z393;P37837	.;TALDO_HUMAN	H	208	ENSP00000321259:P208H;ENSP00000437098:P208H	ENSP00000321259:P208H	P	+	2	0	TALDO1	753505	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.324000	0.79115	2.384000	0.81235	0.313000	0.20887	CCC		0.607	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		A	763505	C	A	763505	3	1	591	1	0	0	0	0	1	0	0	0	15548	623	22	4	641	4	TALDO1	11	763505	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10		763505	134243011	49	32266											
OR4C16	219428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55339616	55339616	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:55339616A>T	ENST00000314634.3	+	1	13	c.13A>T	c.(13-15)Aat>Tat	p.N5Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCAACTGAATAATAATGTGAC	0.373																																																1	Substitution - Missense(1)	kidney(1)											96	89	92					11																	55339616		2201	4296	6497	SO:0001583	missense	219428			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.13A>T	11.37:g.55339616A>T	ENSP00000324913:p.Asn5Tyr		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	A	5.489	0.275227	0.10403	.	.	ENSG00000181935	ENST00000314634	T	0.00321	8.11	4.95	3.79	0.43588	.	0.174039	0.40469	N	0.001096	T	0.00210	0.0006	L	0.56340	1.77	0.09310	N	1	B	0.12630	0.006	B	0.18263	0.021	T	0.40346	-0.9568	10	0.66056	D	0.02	.	7.4341	0.27145	0.9006:0.0:0.0994:0.0	.	5	Q8NGL9	OR4CG_HUMAN	Y	5	ENSP00000324913:N5Y	ENSP00000324913:N5Y	N	+	1	0	OR4C16	55096192	0.000000	0.05858	0.091000	0.20842	0.014000	0.08584	0.030000	0.13688	2.090000	0.63153	0.448000	0.29417	AAT		0.373	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		T	55339616	A	T	55339616	3	4	591	1	0	0	0	0	1	0	0	0	11051	362	13	5	15	5	OR4C16	11	55339616	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	54576111	55339616	79666900	50	32267											
PACS1	55690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65988247	65988247	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:65988247C>T	ENST00000320580.4	+	9	1217	c.1184C>T	c.(1183-1185)cCa>cTa	p.P395L		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	395					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.P395L(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCAGCACGCCAAAGCCCAAG	0.572																																																1	Substitution - Missense(1)	kidney(1)											121	110	114					11																	65988247		2201	4295	6496	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1184C>T	11.37:g.65988247C>T	ENSP00000316454:p.Pro395Leu		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602729	0.46423	.	.	ENSG00000175115	ENST00000320580	T	0.16743	2.32	5.39	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	M	0.72894	2.215	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.06862	-1.0803	10	0.87932	D	0	-12.4177	11.3519	0.49594	0.0:0.8457:0.0:0.1543	.	395	Q6VY07	PACS1_HUMAN	L	395	ENSP00000316454:P395L	ENSP00000316454:P395L	P	+	2	0	PACS1	65744823	1.000000	0.71417	0.058000	0.19502	0.258000	0.26162	7.604000	0.82830	1.274000	0.44362	0.555000	0.69702	CCA		0.572	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		T	65988247	C	T	65988247	3	4	591	1	0	0	0	0	1	0	0	0	11374	594	21	2	1218	2	PACS1	11	65988247	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	10648631	65988247	69018269	51	32268											
MYEOV	26579	broad.mit.edu;ucsc.edu	37	11	69063609	69063609	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:69063609G>C	ENST00000308946.3	+	3	1142	c.692G>C	c.(691-693)aGg>aCg	p.R231T	MYEOV_ENST00000441339.2_Missense_Mutation_p.R231T|MYEOV_ENST00000535407.1_Missense_Mutation_p.R173T	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	231								p.R231T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GACTATGAAAGGGGAAGAAGA	0.652																																																1	Substitution - Missense(1)	kidney(1)											86	88	87					11																	69063609		2200	4294	6494	SO:0001583	missense	26579			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.692G>C	11.37:g.69063609G>C	ENSP00000308330:p.Arg231Thr		Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	G	7.014	0.557322	0.13436	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.25085	1.82;1.82;1.82	1.42	-0.595	0.11660	.	.	.	.	.	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.34931	0.192	T	0.20605	-1.0270	9	0.87932	D	0	.	3.8549	0.08971	0.4772:0.0:0.5228:0.0	.	231	Q96EZ4	MYEOV_HUMAN	T	231;231;173	ENSP00000412482:R231T;ENSP00000308330:R231T;ENSP00000438100:R173T	ENSP00000308330:R231T	R	+	2	0	MYEOV	68820185	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.205000	0.09411	-0.193000	0.10415	0.313000	0.20887	AGG		0.652	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			C	69063609	G	C	69063609	3	2	591	1	0	0	0	0	1	0	0	0	10027	1000	35	4	698	4	MYEOV	11	69063609	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	3075362	69063609	65942907	52	32269											
HYOU1	10525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118922276	118922276	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:118922276C>T	ENST00000404233.3	-	13	1524	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q	HYOU1_ENST00000525859.1_Missense_Mutation_p.R467Q|HYOU1_ENST00000543287.1_Missense_Mutation_p.R380Q|HYOU1_ENST00000529972.1_Missense_Mutation_p.R467Q	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	467					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.R467Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GAAGAGTACCCGTTTATTGTG	0.537																																																1	Substitution - Missense(1)	kidney(1)											227	171	190					11																	118922276		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1400G>A	11.37:g.118922276C>T	ENSP00000384144:p.Arg467Gln		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696975	0.88830	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.00976	5.48;5.48;5.48;5.48;5.48	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	L	0.37630	1.12	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.65138	-0.6241	10	0.41790	T	0.15	-12.612	19.0611	0.93093	0.0:1.0:0.0:0.0	.	458;511;467;467	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	Q	467;458;467;467;316;467;510;380;467	ENSP00000384144:R467Q;ENSP00000437313:R467Q;ENSP00000433397:R467Q;ENSP00000442727:R380Q;ENSP00000431874:R467Q	ENSP00000278752:R458Q	R	-	2	0	HYOU1	118427486	1.000000	0.71417	0.948000	0.38648	0.340000	0.28889	7.320000	0.79064	2.735000	0.93741	0.655000	0.94253	CGG		0.537	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		T	118922276	C	T	118922276	3	4	591	1	0	0	0	0	1	0	0	0	7472	652	23	1	1655	1	HYOU1	11	118922276	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	49858667	118922276	16084240	53	32270											
OR8B8	26493	hgsc.bcm.edu;ucsc.edu	37	11	124310727	124310727	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:124310727delA	ENST00000328064.2	-	1	327	c.255delT	c.(253-255)tttfs	p.F85fs		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	85					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)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCTTTAAGACAAAGCTCATCA	0.423																																																0													106	105	106					11																	124310727		2201	4299	6500	SO:0001589	frameshift_variant	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.255delT	11.37:g.124310727delA	ENSP00000330280:p.Phe85fs		A1L446|Q96RC8	Frame_Shift_Del	DEL	ENST00000328064.2	37	CCDS8446.1																																																																																				0.423	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		-	124310727	A	-	124310727	7	5	591	1	0	1	0	1	0	0	0	0	11232	127	5	0	683	0	OR8B8	11	124310727	Frame_Shift_Del	DEL	A	TCGA-CZ-5459-01A-01D-1501-10	5388451	124310727	10695789	54	32271											
PFDN5	5204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53691896	53691896	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr12:53691896T>G	ENST00000551018.1	+	5	627	c.350T>G	c.(349-351)aTc>aGc	p.I117S	C12orf10_ENST00000548632.1_5'Flank|PFDN5_ENST00000351500.3_Missense_Mutation_p.I72S|PFDN5_ENST00000334478.4_Missense_Mutation_p.I117S|PFDN5_ENST00000550846.1_Missense_Mutation_p.I47S|RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000267103.5_5'Flank|C12orf10_ENST00000549488.1_5'Flank	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	117					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)	p.I117S(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						ATGGAGAAAATCCAACCAGCT	0.453																																																1	Substitution - Missense(1)	kidney(1)											153	159	157					12																	53691896		2203	4300	6503	SO:0001583	missense	5204			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"prefoldin 5"			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.350T>G	12.37:g.53691896T>G	ENSP00000447942:p.Ile117Ser		A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	ENST00000551018.1	37	CCDS8853.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839925	0.91117	.	.	ENSG00000123349	ENST00000551018;ENST00000351500;ENST00000334478	T;T;T	0.42900	0.96;0.96;0.96	5.29	5.29	0.74685	Prefoldin (1);Prefoldin subunit (1);	0.049437	0.85682	D	0.000000	T	0.67664	0.2917	M	0.88310	2.945	0.80722	D	1	D;D	0.69078	0.997;0.973	D;P	0.65874	0.939;0.825	T	0.74959	-0.3486	10	0.87932	D	0	.	13.4877	0.61375	0.0:0.0:0.0:1.0	.	72;117	Q9C083;Q99471	.;PFD5_HUMAN	S	117;72;117	ENSP00000447942:I117S;ENSP00000266964:I72S;ENSP00000334188:I117S	ENSP00000334188:I117S	I	+	2	0	PFDN5	51978163	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.267000	0.78462	2.142000	0.66516	0.454000	0.30748	ATC		0.453	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2			G	53691896	T	G	53691896	3	3	591	1	0	0	0	0	1	0	0	0	11760	1435	50	5	368	5	PFDN5	12	53691896	Missense_Mutation	SNP	T	TCGA-CZ-5459-01A-01D-1501-10		53691896	80159999	55	32272											
KITLG	4254	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	88910211	88910211	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr12:88910211G>C	ENST00000228280.5	-	5	602	c.420C>G	c.(418-420)ttC>ttG	p.F140L	KITLG_ENST00000347404.5_Missense_Mutation_p.F140L|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	140					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|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)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)	p.F140L(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						AAATTCTAAAGAATTCTTCAG	0.348									Testicular Cancer, Familial Clustering of																																							1	Substitution - Missense(1)	kidney(1)											51	58	55					12																	88910211		2200	4294	6494	SO:0001583	missense	4254	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"mast cell growth factor", "stem cell factor", "steel factor", "familial progressive hyperpigmentation 2"	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.420C>G	12.37:g.88910211G>C	ENSP00000228280:p.Phe140Leu		A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914984	0.52546	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.68765	-0.35;-0.35	4.96	2.75	0.32379	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.159386	0.56097	D	0.000022	T	0.76586	0.4008	M	0.65498	2.005	0.44000	D	0.996706	D;D	0.89917	1.0;0.997	D;D	0.76575	0.987;0.988	T	0.77109	-0.2709	10	0.72032	D	0.01	-10.5253	9.1261	0.36816	0.2618:0.0:0.7382:0.0	.	140;140	P21583-2;P21583	.;SCF_HUMAN	L	105;140;140	ENSP00000228280:F140L;ENSP00000054216:F140L	ENSP00000228280:F140L	F	-	3	2	KITLG	87434342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.350000	0.44063	1.078000	0.41014	0.591000	0.81541	TTC		0.348	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994		C	88910211	G	C	88910211	3	2	591	1	0	0	0	0	1	0	0	0	8332	933	33	4	421	4	KITLG	12	88910211	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	35218315	88910211	44941684	56	32273											
CIT	11113	broad.mit.edu	37	12	120128175	120128175	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr12:120128175G>A	ENST00000261833.7	-	46	5893	c.5841C>T	c.(5839-5841)ccC>ccT	p.P1947P	CIT_ENST00000392521.2_Silent_p.P1989P|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1947					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P1975P(1)|p.P1947P(1)|p.P1989P(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCGGGTGGCTGGGGCCTTCGG	0.701																																																3	Substitution - coding silent(3)	kidney(3)											15	16	15					12																	120128175		2196	4289	6485	SO:0001819	synonymous_variant	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5841C>T	12.37:g.120128175G>A			Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374834	0.24857	.	.	ENSG00000122966	ENST00000392520	T	0.11169	2.8	5.4	3.57	0.40892	.	0.377447	0.28171	N	0.016334	T	0.12518	0.0304	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11991	-1.0565	7	0.36615	T	0.2	.	3.7844	0.08694	0.1426:0.1298:0.5935:0.134	.	.	.	.	L	1560	ENSP00000376305:P1560L	ENSP00000376305:P1560L	P	-	2	0	CIT	118612558	0.995000	0.38212	1.000000	0.80357	0.977000	0.68977	0.366000	0.20365	0.757000	0.33036	0.655000	0.94253	CCA		0.701	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		A	120128175	G	A	120128175	2	1	591	1	0	0	0	0	0	0	0	1	3440	1335	47	2		2	CIT	12	120128175	Silent	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	31217964	120128175	13723720	57	32274											
KDM2B	84678	hgsc.bcm.edu;ucsc.edu	37	12	121972425	121972429	+	Frame_Shift_Del	DEL	ACCAA	ACCAA	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	ACCAA	ACCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr12:121972425_121972429delACCAA	ENST00000377071.4	-	7	822_826	c.750_754delTTGGT	c.(748-756)gtttggtacfs	p.WY251fs	KDM2B_ENST00000538046.2_Frame_Shift_Del_p.WY251fs|KDM2B_ENST00000536437.1_Frame_Shift_Del_p.WY134fs|KDM2B_ENST00000377069.4_Frame_Shift_Del_p.WY220fs|KDM2B_ENST00000543852.1_Frame_Shift_Del_p.WY20fs	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	251	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AAAACATGGTACCAAACGGAAGTGC	0.498																																																0																																										SO:0001589	frameshift_variant	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.750_754delTTGGT	12.37:g.121972425_121972429delACCAA	ENSP00000366271:p.Trp251fs		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Frame_Shift_Del	DEL	ENST00000377071.4	37	CCDS41850.1																																																																																				0.498	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		-	121972429	ACCAA	-	121972425	7	5	591	1	0	1	0	1	0	0	0	0	8127	391	14	0	3376	0	KDM2B	12	121972425	Frame_Shift_Del	DEL	ACCAA	TCGA-CZ-5459-01A-01D-1501-10	1844250	121972425	11879470	58	32275											
KNTC1	9735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123034395	123034395	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr12:123034395A>G	ENST00000333479.7	+	13	1247	c.1070A>G	c.(1069-1071)cAa>cGa	p.Q357R	KNTC1_ENST00000450485.2_Missense_Mutation_p.Q320R	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	357					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.Q357R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCTCTGGTCCAAACAGGAATT	0.299																																																1	Substitution - Missense(1)	kidney(1)											46	42	43					12																	123034395		1804	4067	5871	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1070A>G	12.37:g.123034395A>G	ENSP00000328236:p.Gln357Arg		A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	6.950	0.545075	0.13312	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.41758	0.99;0.99	5.5	4.15	0.48705	.	0.232362	0.37761	N	0.001944	T	0.27384	0.0672	L	0.34521	1.04	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.002;0.003	T	0.08848	-1.0702	10	0.21014	T	0.42	-10.023	7.1012	0.25338	0.7823:0.0:0.0828:0.1349	.	320;357	E7ES84;P50748	.;KNTC1_HUMAN	R	320;357	ENSP00000397992:Q320R;ENSP00000328236:Q357R	ENSP00000328236:Q357R	Q	+	2	0	KNTC1	121600348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.351000	0.44071	2.091000	0.63221	0.528000	0.53228	CAA		0.299	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			G	123034395	A	G	123034395	3	3	591	1	0	0	0	0	1	0	0	0	8430	130	5	3	1116	3	KNTC1	12	123034395	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	1061970	123034395	10817500	59	32276											
NALCN	259232	broad.mit.edu;hgsc.bcm.edu	37	13	101763549	101763549	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr13:101763549C>T	ENST00000251127.6	-	19	2302	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	741					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.G741R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCAAATGATCCGCTCAGCATG	0.493																																																1	Substitution - Missense(1)	kidney(1)											111	106	108					13																	101763549		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2221G>A	13.37:g.101763549C>T	ENSP00000251127:p.Gly741Arg		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.796071	0.70567	.	.	ENSG00000102452	ENST00000251127	D	0.97598	-4.45	5.31	5.31	0.75309	.	0.052288	0.85682	D	0.000000	D	0.97126	0.9061	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	P	0.55303	0.773	D	0.97075	0.9780	10	0.48119	T	0.1	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	741	Q8IZF0	NALCN_HUMAN	R	741	ENSP00000251127:G741R	ENSP00000251127:G741R	G	-	1	0	NALCN	100561550	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.298000	0.78815	2.490000	0.84030	0.585000	0.79938	GGA		0.493	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		T	101763549	C	T	101763549	3	4	591	1	0	0	0	0	1	0	0	0	10150	661	23	1	3099	1	NALCN	13	101763549	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10		101763549	13406329	60	32277											
METTL3	56339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21967473	21967473	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr14:21967473C>G	ENST00000298717.4	-	9	1646	c.1495G>C	c.(1495-1497)Gat>Cat	p.D499H		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	499					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.D499H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ACATCACAATCCAGACCCTGG	0.448																																																1	Substitution - Missense(1)	kidney(1)											175	163	167					14																	21967473		2203	4300	6503	SO:0001583	missense	56339			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1495G>C	14.37:g.21967473C>G	ENSP00000298717:p.Asp499His		O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113893	0.77210	.	.	ENSG00000165819	ENST00000298717	T	0.52057	0.68	5.33	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78713	-0.2097	10	0.87932	D	0	-12.9462	14.9909	0.71387	0.0:0.8563:0.1437:0.0	.	499	Q86U44	MTA70_HUMAN	H	499	ENSP00000298717:D499H	ENSP00000298717:D499H	D	-	1	0	METTL3	21037313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.268000	0.65536	1.240000	0.43803	0.467000	0.42956	GAT		0.448	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		G	21967473	C	G	21967473	3	3	591	1	0	0	0	0	1	0	0	0	9503	855	30	4	259	4	METTL3	14	21967473	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10		21967473	85382067	61	32278											
MDGA2	161357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	47600945	47600945	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr14:47600945C>T	ENST00000399232.2	-	5	1054	c.690G>A	c.(688-690)atG>atA	p.M230I	MDGA2_ENST00000426342.1_Start_Codon_SNP_p.M1I|MDGA2_ENST00000439988.3_Missense_Mutation_p.M299I|MDGA2_ENST00000357362.3_Start_Codon_SNP_p.M1I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	230	Ig-like 2.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.M1I(2)|p.M299I(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TAAACGACACCATCTTATCAG	0.313																																																3	Substitution - Missense(3)	kidney(3)											129	116	120					14																	47600945		1864	4099	5963	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.690G>A	14.37:g.47600945C>T	ENSP00000382178:p.Met230Ile		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.88|10.88	1.475718|1.475718	0.26511|0.26511	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.55413	.|1.01;0.52;1.01;0.52	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);	.|0.087210	.|0.47455	.|U	.|0.000237	T|T	0.24392|0.24392	0.0591|0.0591	N|N	0.02011|0.02011	-0.69|-0.69	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.09377	.|0.004	T|T	0.19160|0.19160	-1.0314|-1.0314	5|10	.|0.16420	.|T	.|0.52	.|.	11.4619|11.4619	0.50215|0.50215	0.0:0.9164:0.0:0.0836|0.0:0.9164:0.0:0.0836	.|.	.|230	.|Q7Z553	.|MDGA2_HUMAN	S|I	33|230;1;299;1	.|ENSP00000400011:M230I;ENSP00000405456:M1I;ENSP00000382178:M299I;ENSP00000349925:M1I	.|ENSP00000349925:M1I	G|M	-|-	1|3	0|0	MDGA2|MDGA2	46670695|46670695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.205000|2.205000	0.42770|0.42770	2.655000|2.655000	0.90218|0.90218	0.585000|0.585000	0.79938|0.79938	GGT|ATG		0.313	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		T	47600945	C	T	47600945	3	4	591	1	0	0	0	0	1	0	0	0	9409	594	21	2	2232	2	MDGA2	14	47600945	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	25633472	47600945	59748595	62	32279											
PLEKHH1	57475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68047714	68047714	+	Silent	SNP	T	T	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr14:68047714T>A	ENST00000329153.5	+	23	3375	c.3243T>A	c.(3241-3243)tcT>tcA	p.S1081S	PLEKHH1_ENST00000417684.2_5'UTR	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1081	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.S1120S(1)|p.S1081S(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCGGAAAGTCTGAGGGTGGGA	0.527																																																2	Substitution - coding silent(2)	kidney(2)											87	87	87					14																	68047714		2021	4170	6191	SO:0001819	synonymous_variant	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.3243T>A	14.37:g.68047714T>A			A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	ENST00000329153.5	37	CCDS45128.1																																																																																				0.527	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		A	68047714	T	A	68047714	2	1	591	1	0	0	0	0	0	0	0	1	12078	1567	55	5		5	PLEKHH1	14	68047714	Silent	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	20446769	68047714	39301826	63	32280											
THBS1	7057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	39882215	39882215	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr15:39882215C>A	ENST00000260356.5	+	13	2301	c.2136C>A	c.(2134-2136)caC>caA	p.H712Q		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	712					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.H712Q(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CGACTTACCACTGCAAAAAGG	0.512																																																1	Substitution - Missense(1)	kidney(1)											66	54	58					15																	39882215		2200	4297	6497	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2136C>A	15.37:g.39882215C>A	ENSP00000260356:p.His712Gln		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469311	0.84533	.	.	ENSG00000137801	ENST00000260356	T	0.77098	-1.07	5.79	5.79	0.91817	.	0.000000	0.38058	N	0.001832	D	0.86912	0.6047	M	0.78637	2.42	0.53688	D	0.999977	D;D	0.76494	0.999;0.994	D;D	0.67231	0.95;0.947	D	0.86968	0.2096	10	0.51188	T	0.08	-38.4404	14.2042	0.65724	0.0:0.9286:0.0:0.0714	.	627;712	B4E3J7;P07996	.;TSP1_HUMAN	Q	712	ENSP00000260356:H712Q	ENSP00000260356:H712Q	H	+	3	2	THBS1	37669507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.083000	0.71326	2.738000	0.93877	0.655000	0.94253	CAC		0.512	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		A	39882215	C	A	39882215	3	1	591	1	0	0	0	0	1	0	0	0	15858	564	20	4	2182	4	THBS1	15	39882215	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10		39882215	62649177	64	32281											
TP53BP1	7158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43748191	43748191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr15:43748191G>T	ENST00000263801.3	-	12	2852	c.2600C>A	c.(2599-2601)tCa>tAa	p.S867*	TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.S872*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.S872*|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.S872*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	867					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.S867*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGCCATTTTTGAGTCTTCTGT	0.463								Other conserved DNA damage response genes																																								1	Substitution - Nonsense(1)	kidney(1)											141	141	141					15																	43748191		2201	4298	6499	SO:0001587	stop_gained	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2600C>A	15.37:g.43748191G>T	ENSP00000263801:p.Ser867*		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	40	8.254836	0.98727	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546;ENST00000414758	.	.	.	5.37	4.45	0.53987	.	0.803616	0.11245	N	0.584204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0034	13.456	0.61199	0.0828:0.0:0.9172:0.0	.	.	.	.	X	867;872;872;872;872;11	.	ENSP00000263801:S867X	S	-	2	0	TP53BP1	41535483	0.974000	0.33945	0.994000	0.49952	0.530000	0.34684	2.025000	0.41059	0.761000	0.33130	-0.813000	0.03139	TCA		0.463	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			T	43748191	G	T	43748191	4	4	591	1	0	0	0	0	0	1	0	0	16388	1294	45	4	3386	4	TP53BP1	15	43748191	Nonsense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	3865976	43748191	58783201	65	32282											
FBN1	2200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48718059	48718059	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr15:48718059T>G	ENST00000316623.5	-	59	7662	c.7207A>C	c.(7207-7209)Atc>Ctc	p.I2403L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2403	EGF-like 41; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I2403L(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATTCATCGATATCTGTAATT	0.313																																																1	Substitution - Missense(1)	kidney(1)											86	74	78					15																	48718059		2198	4296	6494	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7207A>C	15.37:g.48718059T>G	ENSP00000325527:p.Ile2403Leu		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.721862	0.89298	.	.	ENSG00000166147	ENST00000316623	D	0.92397	-3.03	6.17	6.17	0.99709	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	M	0.63843	1.955	0.80722	D	1	D	0.57899	0.981	D	0.70716	0.97	D	0.95303	0.8405	10	0.62326	D	0.03	.	16.4837	0.84171	0.0:0.0:0.0:1.0	.	2403	P35555	FBN1_HUMAN	L	2403	ENSP00000325527:I2403L	ENSP00000325527:I2403L	I	-	1	0	FBN1	46505351	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATC		0.313	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			G	48718059	T	G	48718059	3	3	591	1	0	0	0	0	1	0	0	0	5704	1406	49	5	1440	5	FBN1	15	48718059	Missense_Mutation	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	4969868	48718059	53813333	66	32283											
TMOD3	29766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52161517	52161517	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr15:52161517C>A	ENST00000308580.7	+	3	511	c.230C>A	c.(229-231)gCa>gAa	p.A77E	TMOD3_ENST00000544199.1_Missense_Mutation_p.A77E	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	77						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)	p.A77E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		GAGAAAGAAGCATTGGAGCAT	0.443																																					Colon(122;1837 2251 18387 22826)											1	Substitution - Missense(1)	kidney(1)											102	101	102					15																	52161517		2195	4293	6488	SO:0001583	missense	29766			AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.230C>A	15.37:g.52161517C>A	ENSP00000308753:p.Ala77Glu		B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	ENST00000308580.7	37	CCDS10145.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853086	0.91355	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	T;T	0.51817	0.69;0.69	5.37	5.37	0.77165	.	0.057762	0.64402	D	0.000002	T	0.74951	0.3784	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78645	-0.2123	10	0.52906	T	0.07	-16.1763	19.1172	0.93346	0.0:1.0:0.0:0.0	.	77	Q9NYL9	TMOD3_HUMAN	E	77	ENSP00000308753:A77E;ENSP00000438909:A77E	ENSP00000308753:A77E	A	+	2	0	TMOD3	49948809	1.000000	0.71417	0.965000	0.40720	0.760000	0.43138	7.788000	0.85771	2.528000	0.85240	0.655000	0.94253	GCA		0.443	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			A	52161517	C	A	52161517	3	1	591	1	0	0	0	0	1	0	0	0	16240	710	25	4	236	4	TMOD3	15	52161517	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	3443458	52161517	50369875	67	32284											
PPL	5493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4940260	4940261	+	Missense_Mutation	DNP	TA	TA	GG			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr16:4940260_4940261TA>GG	ENST00000345988.2	-	18	2326_2327	c.2237_2238TA>CC	c.(2236-2238)cTA>cCC	p.L746P	PPL_ENST00000590782.2_Missense_Mutation_p.L744P	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	746					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.L746P(1)|p.L746L(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGATGCTGACTAGGAACTGCAG	0.614																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2237_2238delinsGG	16.37:g.4940260_4940261delinsGG	ENSP00000340510:p.Leu746Pro		O60314|O60454|Q14C98	Silent|Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.614	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		GG	4940261	TA	GG	4940260	3	3	591	1	0	0	0	0	1	0	0	0	12339	1509	53	5	3052	5	PPL	16	4940260	Missense_Mutation	DNP	TA	TCGA-CZ-5459-01A-01D-1501-10		4940260	85414493	68	32285											
PPL	5493	broad.mit.edu;ucsc.edu	37	16	4940294	4940294	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr16:4940294A>G	ENST00000345988.2	-	18	2293	c.2204T>C	c.(2203-2205)tTc>tCc	p.F735S	PPL_ENST00000590782.2_Missense_Mutation_p.F733S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	735					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.F735S(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCCGCGGTGGAAGTGCTCGTA	0.612																																																1	Substitution - Missense(1)	kidney(1)											117	94	102					16																	4940294		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2204T>C	16.37:g.4940294A>G	ENSP00000340510:p.Phe735Ser		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664307	0.47572	.	.	ENSG00000118898	ENST00000345988	T	0.20200	2.09	5.19	1.49	0.22878	.	0.224209	0.39475	N	0.001346	T	0.17323	0.0416	L	0.40543	1.245	0.27189	N	0.960479	B	0.27559	0.181	B	0.28638	0.092	T	0.14309	-1.0477	10	0.72032	D	0.01	.	10.3925	0.44181	0.4286:0.0:0.0:0.5714	.	735	O60437	PEPL_HUMAN	S	735	ENSP00000340510:F735S	ENSP00000340510:F735S	F	-	2	0	PPL	4880295	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	3.241000	0.51376	-0.030000	0.13804	-0.417000	0.06048	TTC		0.612	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		G	4940294	A	G	4940294	3	3	591	1	0	0	0	0	1	0	0	0	12339	246	9	3	3086	3	PPL	16	4940294	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	34	4940294	85414459	69	32286											
TMED6	146456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69385482	69385482	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr16:69385482A>T	ENST00000288025.3	-	1	230	c.175T>A	c.(175-177)Ttt>Att	p.F59I	RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.I51N|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	59	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.F59I(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TGGTGGGCAAATTGCCAAAAG	0.488																																																1	Substitution - Missense(1)	kidney(1)											90	87	88					16																	69385482		2198	4300	6498	SO:0001583	missense	146456			BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.175T>A	16.37:g.69385482A>T	ENSP00000288025:p.Phe59Ile		Q6UXN5	Missense_Mutation	SNP	ENST00000288025.3	37	CCDS10878.1	.	.	.	.	.	.	.	.	.	.	A	33	5.227831	0.95173	.	.	ENSG00000157315	ENST00000288025	T	0.54279	0.58	5.85	5.85	0.93711	GOLD (2);	0.048871	0.85682	D	0.000000	T	0.65995	0.2745	M	0.73598	2.24	0.80722	D	1	D	0.52996	0.957	P	0.54174	0.744	T	0.65413	-0.6174	10	0.33141	T	0.24	-10.5849	16.2355	0.82371	1.0:0.0:0.0:0.0	.	59	Q8WW62	TMED6_HUMAN	I	59	ENSP00000288025:F59I	ENSP00000288025:F59I	F	-	1	0	TMED6	67942983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.283000	0.89909	2.238000	0.73509	0.533000	0.62120	TTT		0.488	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		T	69385482	A	T	69385482	3	4	591	1	0	0	0	0	1	0	0	0	16013	101	4	5	563	5	TMED6	16	69385482	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	64445188	69385482	20969271	70	32287											
PHLPP2	23035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71712811	71712811	+	Missense_Mutation	SNP	G	G	T	rs570328608		TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr16:71712811G>T	ENST00000568954.1	-	8	1493	c.1115C>A	c.(1114-1116)tCc>tAc	p.S372Y	PHLPP2_ENST00000393524.2_Missense_Mutation_p.S372Y|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S372Y|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S372Y|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S407Y			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	372					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.S372Y(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AATTCCCAAGGAGGAAAGCTG	0.388																																																1	Substitution - Missense(1)	kidney(1)											71	70	70					16																	71712811		2198	4300	6498	SO:0001583	missense	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1115C>A	16.37:g.71712811G>T	ENSP00000457991:p.Ser372Tyr		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	3.951	-0.012302	0.07727	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.24908	1.83;1.83;1.83	5.81	5.81	0.92471	.	0.214204	0.49305	D	0.000153	T	0.27967	0.0689	L	0.32530	0.975	0.36262	D	0.854601	D;P	0.54047	0.964;0.924	P;P	0.53861	0.736;0.467	T	0.02736	-1.1117	10	0.02654	T	1	-11.7885	15.3431	0.74314	0.0:0.1494:0.8506:0.0	.	372;372	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	Y	179;372;372;372;372	ENSP00000353610:S372Y;ENSP00000348611:S372Y;ENSP00000377159:S372Y	ENSP00000299971:S179Y	S	-	2	0	PHLPP2	70270312	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	3.395000	0.52558	2.747000	0.94245	0.650000	0.86243	TCC		0.388	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		T	71712811	G	T	71712811	3	4	591	1	0	0	0	0	1	0	0	0	11857	1174	41	4	2904	4	PHLPP2	16	71712811	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	2327329	71712811	18641942	71	32288											
CLDN7	1366	broad.mit.edu	37	17	7163812	7163812	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:7163812C>T	ENST00000360325.7	-	4	951	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Missense_Mutation_p.A173T|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000538261.3_Silent_p.L144L	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	173					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A173T(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ATGACTAGGGCAGACCCTGCC	0.572																																																1	Substitution - Missense(1)	kidney(1)											33	30	31					17																	7163812		2203	4300	6503	SO:0001583	missense	1366			AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"Claudins"	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.517G>A	17.37:g.7163812C>T	ENSP00000353475:p.Ala173Thr		B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Missense_Mutation	SNP	ENST00000360325.7	37	CCDS11096.1	.	.	.	.	.	.	.	.	.	.	C	9.834	1.189309	0.21954	.	.	ENSG00000181885	ENST00000360325;ENST00000397317	D;D	0.89343	-2.5;-2.5	4.92	3.94	0.45596	.	0.228625	0.44483	N	0.000441	D	0.84224	0.5425	L	0.51853	1.615	0.80722	D	1	B	0.24043	0.096	B	0.28385	0.089	T	0.81156	-0.1061	10	0.59425	D	0.04	.	6.209	0.20617	0.1843:0.7216:0.0:0.0941	.	173	O95471	CLD7_HUMAN	T	173	ENSP00000353475:A173T;ENSP00000396638:A173T	ENSP00000353475:A173T	A	-	1	0	CLDN7	7104536	0.029000	0.19370	0.998000	0.56505	0.930000	0.56654	0.284000	0.18864	1.431000	0.47355	0.491000	0.48974	GCC		0.572	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		T	7163812	C	T	7163812	3	4	591	1	0	0	0	0	1	0	0	0	3492	710	25	2	122	2	CLDN7	17	7163812	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10		7163812	74031398	72	32289											
SMCR8	140775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18219366	18219366	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:18219366A>G	ENST00000406438.3	+	1	743	c.263A>G	c.(262-264)aAt>aGt	p.N88S	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	88						nucleus (GO:0005634)		p.N88S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTTGATCTCAATTACTTCTCC	0.507																																																1	Substitution - Missense(1)	kidney(1)											204	186	192					17																	18219366		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.263A>G	17.37:g.18219366A>G	ENSP00000385025:p.Asn88Ser		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695730	0.68386	.	.	ENSG00000176994	ENST00000406438	T	0.29655	1.56	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.51156	-0.8741	10	0.56958	D	0.05	-16.7337	16.1605	0.81700	1.0:0.0:0.0:0.0	.	88	Q8TEV9	SMCR8_HUMAN	S	88	ENSP00000385025:N88S	ENSP00000385025:N88S	N	+	2	0	SMCR8	18160091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.829000	0.92055	2.220000	0.72140	0.533000	0.62120	AAT		0.507	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		G	18219366	A	G	18219366	3	3	591	1	0	0	0	0	1	0	0	0	14798	101	4	3	265	3	SMCR8	17	18219366	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	11055554	18219366	62975844	73	32290											
RDM1	201299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34257695	34257695	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:34257695T>A	ENST00000293273.6	-	1	82	c.37A>T	c.(37-39)Agt>Tgt	p.S13C	RDM1_ENST00000394527.1_5'Flank|RDM1_ENST00000394528.3_Missense_Mutation_p.S13C|RDM1_ENST00000431884.2_Missense_Mutation_p.S13C|RDM1_ENST00000394529.3_5'UTR|RDM1_ENST00000425909.3_Missense_Mutation_p.S13C|RDM1_ENST00000591402.1_5'Flank|RDM1_ENST00000430160.2_5'UTR|RDM1_ENST00000419453.2_5'Flank	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	13	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S13C(2)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTTTTGTCACTCTCGATGGGA	0.637								Other identified genes with known or suspected DNA repair function																																								2	Substitution - Missense(2)	kidney(2)											87	73	78					17																	34257695		2203	4300	6503	SO:0001583	missense	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"RNA binding motif (RRM) containing"	19950	protein-coding gene	gene with protein product		612896	"RAD52 homolog B (S. cerevisiae)", "RAD52 motif 1"	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.37A>T	17.37:g.34257695T>A	ENSP00000293273:p.Ser13Cys		A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	ENST00000293273.6	37	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942253	0.92526	.	.	ENSG00000187456	ENST00000293273;ENST00000431884;ENST00000425909;ENST00000436836;ENST00000394528	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.07	0.246	0.15516	Nucleotide-binding, alpha-beta plait (1);	0.336402	0.29389	N	0.012286	T	0.55641	0.1933	M	0.66939	2.045	0.09310	N	0.999995	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;P;D	0.69479	0.939;0.964;0.87;0.915	T	0.44605	-0.9317	10	0.87932	D	0	-0.9399	2.6701	0.05065	0.1942:0.2236:0.0:0.5822	.	13;13;13;13	Q8NG50-5;Q8NG50-10;A8MY68;Q8NG50	.;.;.;RDM1_HUMAN	C	13	ENSP00000293273:S13C;ENSP00000391290:S13C;ENSP00000393620:S13C;ENSP00000397431:S13C;ENSP00000378036:S13C	ENSP00000293273:S13C	S	-	1	0	RDM1	31281808	0.000000	0.05858	0.025000	0.17156	0.846000	0.48090	-0.755000	0.04782	0.228000	0.21019	0.533000	0.62120	AGT		0.637	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		A	34257695	T	A	34257695	3	1	591	1	0	0	0	0	1	0	0	0	13203	1551	54	5	916	5	RDM1	17	34257695	Missense_Mutation	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	16038329	34257695	46937515	74	32291											
TOP2A	7153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38545832	38545832	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:38545832G>A	ENST00000423485.1	-	35	4693	c.4535C>T	c.(4534-4536)tCt>tTt	p.S1512F	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1512					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.S1512F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGCCCGTACAGATTTTGCCCG	0.408																																																1	Substitution - Missense(1)	kidney(1)											52	50	50					17																	38545832		1848	4093	5941	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.4535C>T	17.37:g.38545832G>A	ENSP00000411532:p.Ser1512Phe		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656459	0.47467	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.53857	0.6	5.35	5.35	0.76521	DTHCT (1);	0.168639	0.53938	D	0.000053	T	0.59810	0.2221	L	0.56769	1.78	0.40726	D	0.982709	D	0.53885	0.963	P	0.51487	0.671	T	0.63202	-0.6690	10	0.66056	D	0.02	.	14.285	0.66240	0.0:0.1481:0.8519:0.0	.	1512	P11388	TOP2A_HUMAN	F	1512;1592;1535;1549	ENSP00000411532:S1512F	ENSP00000269577:S1592F	S	-	2	0	TOP2A	35799358	1.000000	0.71417	0.971000	0.41717	0.127000	0.20565	4.753000	0.62183	2.941000	0.99782	0.655000	0.94253	TCT		0.408	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			A	38545832	G	A	38545832	3	1	591	1	0	0	0	0	1	0	0	0	16370	942	33	2	64	2	TOP2A	17	38545832	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	4288137	38545832	42649378	75	32292											
KRT12	3859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39021170	39021171	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:39021170_39021171insT	ENST00000251643.4	-	3	717_718	c.694_695insA	c.(694-696)atcfs	p.I232fs	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	232	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CAGGCCATTGATGTCGGCCTCT	0.564																																																0																																										SO:0001589	frameshift_variant	3859				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.695dupA	17.37:g.39021171_39021171dupT	ENSP00000251643:p.Ile232fs		B2R9E0	Frame_Shift_Ins	INS	ENST00000251643.4	37	CCDS11378.1																																																																																				0.564	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		T	39021171	-	T	39021170	7	5	591	1	0	1	1	0	0	0	0	0	8451	333	12	0	813	0	KRT12	17	39021170	Frame_Shift_Ins	INS	-	TCGA-CZ-5459-01A-01D-1501-10	475338	39021170	42174040	76	32293											
GHDC	84514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40342212	40342212	+	Silent	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:40342212A>G	ENST00000301671.8	-	8	1806	c.1365T>C	c.(1363-1365)aaT>aaC	p.N455N	GHDC_ENST00000587427.1_Silent_p.N455N|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000428494.2_Silent_p.N416N|GHDC_ENST00000414034.3_3'UTR|GHDC_ENST00000593209.1_Silent_p.N455N			Q8N2G8	GHDC_HUMAN	GH3 domain containing	455						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N455N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCTTGTCTCGATTTTCCTCTG	0.562																																																1	Substitution - coding silent(1)	kidney(1)											147	137	140					17																	40342212		2203	4300	6503	SO:0001819	synonymous_variant	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1365T>C	17.37:g.40342212A>G			B4DQS4|E9PDB5|Q9BXM6	Silent	SNP	ENST00000301671.8	37	CCDS11422.1																																																																																				0.562	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		G	40342212	A	G	40342212	2	3	591	1	0	0	0	0	0	0	0	1	6371	330	12	3		3	GHDC	17	40342212	Silent	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	1321042	40342212	40852998	77	32294											
ACSF2	80221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48540792	48540792	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:48540792C>A	ENST00000300441.4	+	8	1029	c.925C>A	c.(925-927)Ctg>Atg	p.L309M	ACSF2_ENST00000541920.1_Missense_Mutation_p.L149M|ACSF2_ENST00000504392.1_Missense_Mutation_p.L266M|ACSF2_ENST00000427954.2_Missense_Mutation_p.L334M|ACSF2_ENST00000502667.1_Missense_Mutation_p.L296M	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	309					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)	p.L309M(1)		endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCCCAACCCCCTGTACCATTG	0.582																																																1	Substitution - Missense(1)	kidney(1)											104	89	94					17																	48540792		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.925C>A	17.37:g.48540792C>A	ENSP00000300441:p.Leu309Met		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223162	0.58668	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	4.8	1.65	0.23941	AMP-dependent synthetase/ligase (1);	0.072669	0.56097	D	0.000025	T	0.57725	0.2073	L	0.55213	1.73	0.54753	D	0.999981	D;D;D;D	0.65815	0.977;0.995;0.977;0.977	D;D;D;D	0.70935	0.971;0.971;0.971;0.971	T	0.54450	-0.8292	10	0.56958	D	0.05	-14.6754	8.8625	0.35267	0.0:0.7481:0.0:0.2519	.	296;334;266;309	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	M	309;149;266;334;296	ENSP00000300441:L309M;ENSP00000437987:L149M;ENSP00000425964:L266M;ENSP00000401831:L334M;ENSP00000421884:L296M	ENSP00000300441:L309M	L	+	1	2	ACSF2	45895791	0.949000	0.32298	0.996000	0.52242	0.922000	0.55478	1.984000	0.40658	0.204000	0.20548	0.655000	0.94253	CTG		0.582	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		A	48540792	C	A	48540792	3	1	591	1	0	0	0	0	1	0	0	0	175	680	24	4	955	4	ACSF2	17	48540792	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	8198580	48540792	32654418	78	32295											
KCNH6	81033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61613155	61613155	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:61613155G>A	ENST00000583023.1	+	6	1238	c.1227G>A	c.(1225-1227)gcG>gcA	p.A409A	KCNH6_ENST00000580652.1_Silent_p.A409A|KCNH6_ENST00000456941.2_Silent_p.A409A|KCNH6_ENST00000581784.1_Silent_p.A409A|KCNH6_ENST00000314672.5_Silent_p.A409A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	409					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A409A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCACCTTCGCGCTCATAGCGC	0.632																																																1	Substitution - coding silent(1)	kidney(1)											94	83	87					17																	61613155		2203	4300	6503	SO:0001819	synonymous_variant	81033			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1227G>A	17.37:g.61613155G>A			Q9BRD7	Silent	SNP	ENST00000583023.1	37	CCDS11638.1																																																																																				0.632	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		A	61613155	G	A	61613155	2	1	591	1	0	0	0	0	0	0	0	1	8038	1074	38	1		1	KCNH6	17	61613155	Silent	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	13072363	61613155	19582055	79	32296											
ERN1	2081	hgsc.bcm.edu;ucsc.edu	37	17	62122827	62122827	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:62122827delT	ENST00000433197.3	-	20	2640	c.2545delA	c.(2545-2547)atafs	p.I849fs		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCCTTTTCTATTCTGTCGCTC	0.547																																																0													97	100	99					17																	62122827		2099	4244	6343	SO:0001589	frameshift_variant	2081			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2545delA	17.37:g.62122827delT	ENSP00000401445:p.Ile849fs			Frame_Shift_Del	DEL	ENST00000433197.3	37	CCDS45762.1																																																																																				0.547	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		-	62122827	T	-	62122827	7	5	591	1	0	1	0	1	0	0	0	0	5239	1493	52	0	400	0	ERN1	17	62122827	Frame_Shift_Del	DEL	T	TCGA-CZ-5459-01A-01D-1501-10	509672	62122827	19072383	80	32297											
CCDC46	201134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	64059172	64059172	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:64059172A>T	ENST00000392769.2	-	11	1201	c.983T>A	c.(982-984)gTt>gAt	p.V328D	CEP112_ENST00000537949.1_Missense_Mutation_p.V286D|CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.V328D	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	328					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.V328D(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTCTCTGATAACTTGACAGTC	0.333																																																2	Substitution - Missense(2)	kidney(2)											112	100	104					17																	64059172		2201	4297	6498	SO:0001583	missense	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.983T>A	17.37:g.64059172A>T	ENSP00000376522:p.Val328Asp		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075489	0.55646	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.48522	0.81;0.81;0.82	5.27	5.27	0.74061	.	0.322175	0.29972	N	0.010731	T	0.49474	0.1559	L	0.54323	1.7	0.80722	D	1	P;P;P	0.40875	0.693;0.731;0.693	P;B;P	0.46975	0.533;0.347;0.533	T	0.39623	-0.9605	10	0.12430	T	0.62	-4.658	14.1801	0.65568	1.0:0.0:0.0:0.0	.	286;286;328	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	D	328;328;286	ENSP00000442784:V328D;ENSP00000376522:V328D;ENSP00000440775:V286D	ENSP00000376522:V328D	V	-	2	0	CEP112	61489634	1.000000	0.71417	0.956000	0.39512	0.961000	0.63080	6.234000	0.72326	1.963000	0.57068	0.477000	0.44152	GTT		0.333	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		T	64059172	A	T	64059172	3	4	591	1	0	0	0	0	1	0	0	0	2819	43	2	5	2118	5	CCDC46	17	64059172	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	1936345	64059172	17136038	81	32298											
SRP68	6730	broad.mit.edu;hgsc.bcm.edu	37	17	74042206	74042206	+	Silent	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:74042206C>T	ENST00000307877.2	-	11	1373	c.1212G>A	c.(1210-1212)agG>agA	p.R404R	SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Silent_p.R366R|SRP68_ENST00000355113.5_Silent_p.R303R|SRP68_ENST00000602720.1_Silent_p.R65R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	404					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.R404R(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GCAGCAGAGCCCTCTGCAGAC	0.532																																																1	Substitution - coding silent(1)	kidney(1)											164	156	159					17																	74042206		2203	4300	6503	SO:0001819	synonymous_variant	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1212G>A	17.37:g.74042206C>T			B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	CCDS11738.1																																																																																				0.532	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		T	74042206	C	T	74042206	2	4	591	1	0	0	0	0	0	0	0	1	15161	622	22	2		2	SRP68	17	74042206	Silent	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	9983034	74042206	7153004	82	32299											
SLC16A3	9123	broad.mit.edu;ucsc.edu	37	17	80194627	80194627	+	Silent	SNP	G	G	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:80194627G>C	ENST00000581287.1	+	2	2568	c.246G>C	c.(244-246)gtG>gtC	p.V82V	SLC16A3_ENST00000584781.1_3'UTR|SLC16A3_ENST00000392341.1_Silent_p.V82V|SLC16A3_ENST00000582743.1_Silent_p.V82V|SLC16A3_ENST00000392339.1_Silent_p.V82V	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	82					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.V82V(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	GTGTGTGCGTGAACCGCTTTG	0.667											OREG0024821	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(52;652 1135 19190 37282 52456)											1	Substitution - coding silent(1)	kidney(1)											89	86	87					17																	80194627		2203	4300	6503	SO:0001819	synonymous_variant	9123			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.246G>C	17.37:g.80194627G>C		1196	B3KXG8|Q2M1P8	Silent	SNP	ENST00000581287.1	37	CCDS11804.1																																																																																				0.667	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207		C	80194627	G	C	80194627	2	2	591	1	0	0	0	0	0	0	0	1	14415	1277	45	4		4	SLC16A3	17	80194627	Silent	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	6152421	80194627	1000583	83	32300											
ABHD3	171586	hgsc.bcm.edu;ucsc.edu	37	18	19239274	19239274	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr18:19239274delA	ENST00000289119.2	-	6	838	c.699delT	c.(697-699)attfs	p.I233fs	ABHD3_ENST00000580981.1_Frame_Shift_Del_p.I180fs|ABHD3_ENST00000578270.1_Frame_Shift_Del_p.I38fs|RP11-13N13.5_ENST00000584148.1_RNA	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	233						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						TTTTGGACCCAATTTTGCCCA	0.408																																																0													79	79	79					18																	19239274		2203	4300	6503	SO:0001589	frameshift_variant	171586			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"Abhydrolase domain containing"	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.699delT	18.37:g.19239274delA	ENSP00000289119:p.Ile233fs		B0YIV0|B7Z5C2|O43411	Frame_Shift_Del	DEL	ENST00000289119.2	37	CCDS32802.1																																																																																				0.408	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			-	19239274	A	-	19239274	7	5	591	1	0	1	0	1	0	0	0	0	83	126	5	0	546	0	ABHD3	18	19239274	Frame_Shift_Del	DEL	A	TCGA-CZ-5459-01A-01D-1501-10		19239274	58837974	84	32301											
CHST9	83539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	24496329	24496329	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr18:24496329A>G	ENST00000284224.8	-	6	1503	c.1226T>C	c.(1225-1227)gTc>gCc	p.V409A	AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.V409A|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	409					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.V409A(1)|p.V324A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTGTCTCACGACTTGAGCATT	0.353																																																2	Substitution - Missense(2)	kidney(2)											146	136	139					18																	24496329		1844	4088	5932	SO:0001583	missense	83539			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1226T>C	18.37:g.24496329A>G	ENSP00000284224:p.Val409Ala		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.012076	0.35511	.	.	ENSG00000154080	ENST00000284224	T	0.73469	-0.75	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000009	T	0.72415	0.3457	L	0.38838	1.175	0.80722	D	1	P	0.37207	0.587	B	0.42959	0.403	T	0.74441	-0.3664	10	0.62326	D	0.03	-18.2608	16.6406	0.85098	1.0:0.0:0.0:0.0	.	409	Q7L1S5	CHST9_HUMAN	A	409	ENSP00000284224:V409A	ENSP00000284224:V409A	V	-	2	0	CHST9	22750327	1.000000	0.71417	0.303000	0.25071	0.834000	0.47266	7.068000	0.76748	2.326000	0.78906	0.533000	0.62120	GTC		0.353	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		G	24496329	A	G	24496329	3	3	591	1	0	0	0	0	1	0	0	0	3413	275	10	3	109	3	CHST9	18	24496329	Missense_Mutation	SNP	A	TCGA-CZ-5459-01A-01D-1501-10	5257055	24496329	53580919	85	32302											
ME2	4200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	48422198	48422198	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr18:48422198C>T	ENST00000321341.5	+	2	280	c.8C>T	c.(7-9)tCc>tTc	p.S3F	ME2_ENST00000382927.3_Missense_Mutation_p.S3F	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	3					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.S3F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		AAGATGTTGTCCCGGTTAAGA	0.388																																																1	Substitution - Missense(1)	kidney(1)											80	73	76					18																	48422198		2203	4300	6503	SO:0001583	missense	4200			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.8C>T	18.37:g.48422198C>T	ENSP00000321070:p.Ser3Phe		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372751	0.82573	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.19250	2.16;2.17	6.07	6.07	0.98685	.	0.053424	0.85682	D	0.000000	T	0.28566	0.0707	N	0.22421	0.69	0.50039	D	0.999844	D;D	0.62365	0.96;0.991	P;P	0.55161	0.698;0.77	T	0.01065	-1.1463	10	0.87932	D	0	-5.4987	17.5607	0.87906	0.0:1.0:0.0:0.0	.	3;3	Q9BWL6;P23368	.;MAOM_HUMAN	F	3	ENSP00000321070:S3F;ENSP00000372384:S3F	ENSP00000321070:S3F	S	+	2	0	ME2	46676196	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	4.145000	0.58065	2.884000	0.98904	0.655000	0.94253	TCC		0.388	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		T	48422198	C	T	48422198	3	4	591	1	0	0	0	0	1	0	0	0	9420	855	30	2	10	2	ME2	18	48422198	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	23925869	48422198	29655050	86	32303											
C3	718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6697533	6697533	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr19:6697533C>T	ENST00000245907.6	-	21	2710	c.2618G>A	c.(2617-2619)tGc>tAc	p.C873Y		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	873					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.C873Y(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGCCAGGCTGCAGAAGGCTGG	0.602																																																1	Substitution - Missense(1)	kidney(1)											95	75	82					19																	6697533		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2618G>A	19.37:g.6697533C>T	ENSP00000245907:p.Cys873Tyr		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925044	0.92319	.	.	ENSG00000125730	ENST00000245907	T	0.37411	1.2	5.96	5.96	0.96718	.	0.089312	0.85682	D	0.000000	T	0.68632	0.3022	M	0.89840	3.065	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.69921	-0.5014	10	0.40728	T	0.16	.	19.1907	0.93664	0.0:1.0:0.0:0.0	.	873	P01024	CO3_HUMAN	Y	873	ENSP00000245907:C873Y	ENSP00000245907:C873Y	C	-	2	0	C3	6648533	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.015000	0.76387	2.831000	0.97527	0.650000	0.86243	TGC		0.602	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		T	6697533	C	T	6697533	3	4	591	1	0	0	0	0	1	0	0	0	2206	710	25	2	2457	2	C3	19	6697533	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10		6697533	52431450	87	32304											
ZNF546	339327	hgsc.bcm.edu;ucsc.edu	37	19	40519822	40519824	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	ATC	ATC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr19:40519822_40519824delATC	ENST00000347077.4	+	7	861_863	c.645_647delATC	c.(643-648)aaatca>aaa	p.S216del	ZNF546_ENST00000600094.1_In_Frame_Del_p.S190del|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTAGAGAGAAATCATATGAATGT	0.365																																																0																																										SO:0001651	inframe_deletion	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.645_647delATC	19.37:g.40519822_40519824delATC	ENSP00000339823:p.Ser216del		A8K913	In_Frame_Del	DEL	ENST00000347077.4	37	CCDS12548.1																																																																																				0.365	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		-	40519824	ATC	-	40519822	7	5	591	1	0	1	0	1	0	0	0	0	17983	98	4	0	663	0	ZNF546	19	40519822	In_Frame_Del	DEL	ATC	TCGA-CZ-5459-01A-01D-1501-10	33822289	40519822	18609161	88	32305											
CEACAM6	4680	broad.mit.edu	37	19	42260806	42260806	+	Silent	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr19:42260806C>T	ENST00000199764.6	+	2	581	c.363C>T	c.(361-363)acC>acT	p.T121T	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	121	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T121T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GATTCTATACCCTACAAGTCA	0.493																																																1	Substitution - coding silent(1)	kidney(1)											291	286	287					19																	42260806		2203	4300	6503	SO:0001819	synonymous_variant	4680			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.363C>T	19.37:g.42260806C>T			Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	CCDS12585.1																																																																																				0.493	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			T	42260806	C	T	42260806	2	4	591	1	0	0	0	0	0	0	0	1	3198	610	22	2		2	CEACAM6	19	42260806	Silent	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	1740984	42260806	16868177	89	32306											
CCDC61	729440	broad.mit.edu;ucsc.edu	37	19	46511489	46511489	+	Missense_Mutation	SNP	C	C	T	rs377161841		TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr19:46511489C>T	ENST00000595358.1	+	5	530	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	CCDC61_ENST00000594087.1_Missense_Mutation_p.R161C|CCDC61_ENST00000263284.2_Missense_Mutation_p.R218C|CCDC61_ENST00000536603.1_Missense_Mutation_p.R161C	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	161						centrosome (GO:0005813)		p.R218C(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GGAACTGGGCCGCCTGCAAGG	0.647																																																1	Substitution - Missense(1)	kidney(1)											23	26	25					19																	46511489		1942	4132	6074	SO:0001583	missense	729440				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.481C>T	19.37:g.46511489C>T	ENSP00000471454:p.Arg161Cys		C8CAP4|Q9HDB6	Missense_Mutation	SNP	ENST00000595358.1	37	CCDS46120.2	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433366	0.62844	.	.	ENSG00000104983	ENST00000263284;ENST00000536603	.	.	.	4.15	3.03	0.35002	.	0.538029	0.20495	N	0.091211	T	0.44222	0.1283	L	0.50333	1.59	0.28745	N	0.901749	D	0.63880	0.993	P	0.50896	0.653	T	0.40251	-0.9573	9	0.72032	D	0.01	-13.5136	10.0582	0.42259	0.0:0.6793:0.3207:0.0	.	161	Q9Y6R9	CCD61_HUMAN	C	218;161	.	ENSP00000263284:R218C	R	+	1	0	CCDC61	51203329	0.742000	0.28228	1.000000	0.80357	0.799000	0.45148	2.078000	0.41567	2.330000	0.79161	0.555000	0.69702	CGC		0.647	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	NM_001080402		T	46511489	C	T	46511489	3	4	591	1	0	0	0	0	1	0	0	0	2834	652	23	1	674	1	CCDC61	19	46511489	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	4250683	46511489	12617494	90	32307											
ZNF304	57343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57865150	57865150	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr19:57865150C>T	ENST00000282286.5	+	2	264	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	CTC-444N24.13_ENST00000597973.1_RNA|ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000443917.2_Missense_Mutation_p.L31F|ZNF304_ENST00000391705.3_Missense_Mutation_p.L31F			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L31F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTGGGAACTCCTTGAGGAGGC	0.483																																																1	Substitution - Missense(1)	kidney(1)											267	201	223					19																	57865150		2203	4300	6503	SO:0001583	missense	57343			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.91C>T	19.37:g.57865150C>T	ENSP00000282286:p.Leu31Phe			Missense_Mutation	SNP	ENST00000282286.5	37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557007	0.65425	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.18960	2.18;2.18;2.18	3.34	3.34	0.38264	Krueppel-associated box (4);	.	.	.	.	T	0.66036	0.2749	H	0.99619	4.66	0.09310	N	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65553	-0.6140	9	0.87932	D	0	.	12.6075	0.56531	0.0:1.0:0.0:0.0	.	31;31	Q9HCX3;E7EQD3	ZN304_HUMAN;.	F	31	ENSP00000282286:L31F;ENSP00000375586:L31F;ENSP00000401642:L31F	ENSP00000282286:L31F	L	+	1	0	ZNF304	62556962	0.967000	0.33354	0.327000	0.25402	0.993000	0.82548	1.430000	0.34914	2.175000	0.68902	0.557000	0.71058	CTT		0.483	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			T	57865150	C	T	57865150	3	4	591	1	0	0	0	0	1	0	0	0	17838	681	24	2	97	2	ZNF304	19	57865150	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	11353661	57865150	1263833	91	32308											
C20orf79	140856	hgsc.bcm.edu	37	20	18794843	18794843	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr20:18794843delT	ENST00000377428.2	+	1	474	c.384delT	c.(382-384)gctfs	p.A128fs	C20orf78_ENST00000278779.4_Intron|C20orf78_ENST00000463425.1_5'Flank	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	128	SCP2.																CGCAGAAGGCTTTCCTTGCCG	0.478																																																0													54	59	58					20																	18794843		2203	4300	6503	SO:0001589	frameshift_variant	0			AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"sterol carrier protein 2-like protein"		"chromosome 20 open reading frame 79"	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.384delT	20.37:g.18794843delT	ENSP00000366645:p.Ala128fs		Q548A4	Frame_Shift_Del	DEL	ENST00000377428.2	37	CCDS13139.1																																																																																				0.478	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		-	18794843	T	-	18794843	7	5	591	1	0	1	0	1	0	0	0	0	2121	1596	56	0	386	0	C20orf79	20	18794843	Frame_Shift_Del	DEL	T	TCGA-CZ-5459-01A-01D-1501-10		18794843	44230677	92	32309											
FOXA2	3170	broad.mit.edu	37	20	22562794	22562794	+	Silent	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr20:22562794C>T	ENST00000377115.4	-	3	1249	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	FOXA2_ENST00000419308.2_Silent_p.P362P	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	356					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P356P(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GCGGCAGGCCCGGGTGGTGGG	0.726																																																1	Substitution - coding silent(1)	kidney(1)											34	27	30					20																	22562794		2151	4221	6372	SO:0001819	synonymous_variant	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1068G>A	20.37:g.22562794C>T			Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	CCDS13147.1																																																																																				0.726	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			T	22562794	C	T	22562794	2	4	591	1	0	0	0	0	0	0	0	1	5992	639	23	1		1	FOXA2	20	22562794	Silent	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	3767951	22562794	40462726	93	32310											
C20orf117	140710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	35414908	35414908	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr20:35414908C>A	ENST00000357779.3	-	15	4578	c.4252G>T	c.(4252-4254)Gca>Tca	p.A1418S	SOGA1_ENST00000456801.2_Missense_Mutation_p.A1259S|SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000237536.4_Missense_Mutation_p.A1656S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1418					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A1656S(2)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GGGGGGAGTGCCCTCTCCTCC	0.657																																																2	Substitution - Missense(2)	kidney(2)											41	46	44					20																	35414908		692	1591	2283	SO:0001583	missense	0			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.4252G>T	20.37:g.35414908C>A	ENSP00000350424:p.Ala1418Ser		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	C	16.44	3.122955	0.56613	.	.	ENSG00000149639	ENST00000237536;ENST00000456801;ENST00000357779	T;T;T	0.19669	2.13;2.16;2.15	4.82	1.73	0.24493	.	0.239831	0.40469	N	0.001092	T	0.17152	0.0412	L	0.29908	0.895	0.29438	N	0.859379	.	.	.	.	.	.	T	0.07654	-1.0761	8	0.66056	D	0.02	-2.8887	6.7843	0.23665	0.3147:0.5986:0.0:0.0867	.	.	.	.	S	1656;1259;1418	ENSP00000237536:A1656S;ENSP00000413886:A1259S;ENSP00000350424:A1418S	ENSP00000237536:A1656S	A	-	1	0	KIAA0889	34848322	0.991000	0.36638	0.851000	0.33527	0.676000	0.39594	1.069000	0.30641	0.709000	0.31976	0.462000	0.41574	GCA		0.657	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		A	35414908	C	A	35414908	3	1	591	1	0	0	0	0	1	0	0	0	2085	739	26	4	85	4	C20orf117	20	35414908	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10	12852114	35414908	27610612	94	32311											
BRWD1	54014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	40559338	40559338	+	Missense_Mutation	SNP	C	C	A	rs140524582		TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr21:40559338C>A	ENST00000333229.2	-	42	6904	c.6577G>T	c.(6577-6579)Gtt>Ttt	p.V2193F	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2193					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V2193F(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTCTAGGAACAAATTCTGAA	0.358																																					Melanoma(170;988 1986 4794 16843 39731)											1	Substitution - Missense(1)	kidney(1)						C	PHE/VAL,	0,4406		0,0,2203	48	46	47		6577,	4.4	1	21	dbSNP_134	47	1,8599		0,1,4299	no	missense,utr-3	BRWD1	NM_018963.4,NM_033656.3	50,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging,	2193/2321,	40559338	1,13005	2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6577G>T	21.37:g.40559338C>A	ENSP00000330753:p.Val2193Phe		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581640	0.46006	0.0	1.16E-4	ENSG00000185658	ENST00000333229	T	0.58358	0.34	5.31	4.42	0.53409	.	1.132070	0.06599	N	0.753439	T	0.52837	0.1759	L	0.53249	1.67	0.80722	D	1	P	0.40476	0.718	B	0.42422	0.387	T	0.40117	-0.9580	10	0.40728	T	0.16	-5.8413	7.838	0.29382	0.0:0.7755:0.0:0.2245	.	2193	Q9NSI6	BRWD1_HUMAN	F	2193	ENSP00000330753:V2193F	ENSP00000330753:V2193F	V	-	1	0	BRWD1	39481208	0.667000	0.27484	1.000000	0.80357	0.996000	0.88848	0.273000	0.18662	1.367000	0.46095	0.655000	0.94253	GTT		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		A	40559338	C	A	40559338	3	1	591	1	0	0	0	0	1	0	0	0	1527	478	17	4	389	4	BRWD1	21	40559338	Missense_Mutation	SNP	C	TCGA-CZ-5459-01A-01D-1501-10		40559338	7570557	95	32312											
PDXK	8566	hgsc.bcm.edu;ucsc.edu	37	21	45163648	45163649	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr21:45163648_45163649delTG	ENST00000291565.4	+	4	474_475	c.291_292delTG	c.(289-294)attgtgfs	p.V98fs	PDXK_ENST00000468090.1_Intron|PDXK_ENST00000467908.1_Frame_Shift_Del_p.V58fs	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	98					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TGGTGGACATTGTGCAGGAGCT	0.609																																																0																																										SO:0001589	frameshift_variant	8566			U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"chromosome 21 open reading frame 97", "chromosome 21 open reading frame 124"	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.291_292delTG	21.37:g.45163650_45163651delTG	ENSP00000291565:p.Val98fs		Q7Z2Y0|Q9BS02	Frame_Shift_Del	DEL	ENST00000291565.4	37	CCDS13699.1																																																																																				0.609	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		-	45163649	TG	-	45163648	7	5	591	1	0	1	0	1	0	0	0	0	11699	1800	63	0	305	0	PDXK	21	45163648	Frame_Shift_Del	DEL	TG	TCGA-CZ-5459-01A-01D-1501-10	4604310	45163648	2966247	96	32313											
MMP11	4320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24122848	24122848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr22:24122848G>T	ENST00000215743.3	+	4	614	c.562G>T	c.(562-564)Gaa>Taa	p.E188*	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	188					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E188*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	GACTCACCGAGAAGGGGATGT	0.597																																																1	Substitution - Nonsense(1)	kidney(1)											68	67	67					22																	24122848		2203	4300	6503	SO:0001587	stop_gained	4320				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.562G>T	22.37:g.24122848G>T	ENSP00000215743:p.Glu188*		Q5FX24|Q6PEZ6|Q9UC26	Nonsense_Mutation	SNP	ENST00000215743.3	37	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049866	0.75846	.	.	ENSG00000099953	ENST00000215743	.	.	.	4.12	3.08	0.35506	.	0.152306	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.8392	0.63428	0.0:0.155:0.845:0.0	.	.	.	.	X	188	.	ENSP00000215743:E188X	E	+	1	0	MMP11	22452848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.514000	0.53422	1.316000	0.45131	0.650000	0.86243	GAA		0.597	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		T	24122848	G	T	24122848	4	4	591	1	0	0	0	0	0	1	0	0	9652	943	33	4	576	4	MMP11	22	24122848	Nonsense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10		24122848	27181718	97	32314											
TMPRSS6	164656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	37469600	37469600	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr22:37469600G>A	ENST00000346753.3	-	13	1670	c.1554C>T	c.(1552-1554)aaC>aaT	p.N518N	TMPRSS6_ENST00000381792.2_Silent_p.N509N|TMPRSS6_ENST00000406856.1_Silent_p.N509N|TMPRSS6_ENST00000406725.1_Silent_p.N509N	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	518	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.N518N(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGTCGCTGCCGTTGAGACAAT	0.562																																																1	Substitution - coding silent(1)	kidney(1)											189	143	159					22																	37469600		2203	4300	6503	SO:0001819	synonymous_variant	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1554C>T	22.37:g.37469600G>A			B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	CCDS13941.1																																																																																				0.562	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		A	37469600	G	A	37469600	2	1	591	1	0	0	0	0	0	0	0	1	16256	1136	40	1		1	TMPRSS6	22	37469600	Silent	SNP	G	TCGA-CZ-5459-01A-01D-1501-10	13346752	37469600	13834966	98	32315											
TMPRSS6	164656	broad.mit.edu	37	22	37499264	37499264	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr22:37499264T>A	ENST00000346753.3	-	2	337	c.221A>T	c.(220-222)tAt>tTt	p.Y74F	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.Y74F|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.Y65F|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.Y65F|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.Y65F	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	74					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.Y74F(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACCTAGGAAATACCAGAGTAG	0.632																																																1	Substitution - Missense(1)	kidney(1)											41	39	40					22																	37499264		2203	4300	6503	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.221A>T	22.37:g.37499264T>A	ENSP00000334962:p.Tyr74Phe		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579204	0.65878	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.91792	-2.91;-2.91;-2.91;-2.91;-0.92;-2.77	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000002	D	0.94377	0.8192	M	0.63843	1.955	0.40024	D	0.975447	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.991	D	0.94362	0.7588	10	0.59425	D	0.04	.	10.0448	0.42180	0.0:0.0:0.0:1.0	.	74;65;74	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	F	65;74;65;65;74;65	ENSP00000371211:Y65F;ENSP00000334962:Y74F;ENSP00000385453:Y65F;ENSP00000384964:Y65F;ENSP00000397691:Y74F;ENSP00000400317:Y65F	ENSP00000334962:Y74F	Y	-	2	0	TMPRSS6	35829210	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	4.050000	0.57404	1.634000	0.50500	0.448000	0.29417	TAT		0.632	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		A	37499264	T	A	37499264	3	1	591	1	0	0	0	0	1	0	0	0	16256	1406	49	5	2282	5	TMPRSS6	22	37499264	Missense_Mutation	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	29664	37499264	13805302	99	32316											
ARSH	347527	broad.mit.edu	37	X	2928175	2928175	+	Missense_Mutation	SNP	G	G	T	rs143754233	byFrequency	TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chrX:2928175G>T	ENST00000381130.2	+	2	197	c.197G>T	c.(196-198)cGg>cTg	p.R66L		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	66					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R66Q(1)|p.R66L(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGACCGGCCGGTACCCCATC	0.483																																																2	Substitution - Missense(2)	kidney(1)|endometrium(1)											50	38	43					X																	2928175		2203	4300	6503	SO:0001583	missense	347527			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.197G>T	X.37:g.2928175G>T	ENSP00000370522:p.Arg66Leu			Missense_Mutation	SNP	ENST00000381130.2	37	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391730	0.62066	.	.	ENSG00000205667	ENST00000381130	D	0.98717	-5.09	3.58	3.58	0.41010	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.059029	0.64402	D	0.000003	D	0.99155	0.9708	M	0.88979	2.995	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	D	0.99253	1.0888	10	0.72032	D	0.01	.	14.8652	0.70409	0.0:0.0:1.0:0.0	.	66	Q5FYA8	ARSH_HUMAN	L	66	ENSP00000370522:R66L	ENSP00000370522:R66L	R	+	2	0	ARSH	2938175	1.000000	0.71417	0.150000	0.22450	0.426000	0.31534	6.004000	0.70709	1.573000	0.49748	0.600000	0.82982	CGG		0.483	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		T	2928175	G	T	2928175	3	4	591	1	0	0	0	0	1	0	0	0	993	1116	39	4	203	4	ARSH	23	2928175	Missense_Mutation	SNP	G	TCGA-CZ-5459-01A-01D-1501-10		2928175	152342385	100	32317											
NKRF	55922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	118724240	118724240	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chrX:118724240T>G	ENST00000371527.1	-	2	1800	c.1148A>C	c.(1147-1149)cAa>cCa	p.Q383P	NKRF_ENST00000304449.5_Missense_Mutation_p.Q383P|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.Q398P	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	383					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q398P(1)|p.Q383P(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GCAGTGATCTTGTAAAAACAC	0.388																																																2	Substitution - Missense(2)	kidney(2)											114	102	106					X																	118724240		2203	4300	6503	SO:0001583	missense	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1148A>C	X.37:g.118724240T>G	ENSP00000360582:p.Gln383Pro		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.011041	0.54361	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.76316	-1.01;-1.01;-1.01	5.85	5.85	0.93711	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.82549	0.5061	M	0.72353	2.195	0.80722	D	1	D	0.57899	0.981	P	0.52109	0.69	T	0.83324	-0.0016	10	0.45353	T	0.12	-14.6743	14.2577	0.66062	0.0:0.0:0.0:1.0	.	383	O15226	NKRF_HUMAN	P	383;383;398	ENSP00000360582:Q383P;ENSP00000304803:Q383P;ENSP00000442308:Q398P	ENSP00000304803:Q383P	Q	-	2	0	NKRF	118608268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.661000	0.83786	1.965000	0.57142	0.486000	0.48141	CAA		0.388	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		G	118724240	T	G	118724240	3	3	591	1	0	0	0	0	1	0	0	0	10449	1812	63	5	928	5	NKRF	23	118724240	Missense_Mutation	SNP	T	TCGA-CZ-5459-01A-01D-1501-10	115796065	118724240	36546320	101	32318											
ZMPSTE24	10269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40726535	40726535	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr1:40726535C>T	ENST00000372759.3	+	2	313	c.148C>T	c.(148-150)Cat>Tat	p.H50Y	RP1-39G22.7_ENST00000567508.1_RNA|ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	50					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)	p.H50Y(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AACAACAACTCATGTACCACC	0.333																																																1	Substitution - Missense(1)	kidney(1)											106	106	106					1																	40726535		2203	4300	6503	SO:0001583	missense	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog"	606480	"zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)"			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.148C>T	1.37:g.40726535C>T	ENSP00000361845:p.His50Tyr		B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274667	0.59649	.	.	ENSG00000084073	ENST00000372759	T	0.00949	5.51	4.89	4.89	0.63831	.	0.151400	0.64402	D	0.000014	T	0.01421	0.0046	L	0.29908	0.895	0.58432	D	0.999994	B	0.15473	0.013	B	0.25987	0.065	T	0.65776	-0.6086	10	0.66056	D	0.02	-0.5415	18.4227	0.90597	0.0:1.0:0.0:0.0	.	50	O75844	FACE1_HUMAN	Y	50	ENSP00000361845:H50Y	ENSP00000361845:H50Y	H	+	1	0	ZMPSTE24	40499122	1.000000	0.71417	0.997000	0.53966	0.812000	0.45895	7.426000	0.80270	2.414000	0.81942	0.561000	0.74099	CAT		0.333	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			T	40726535	C	T	40726535	3	4	592	1	0	0	0	0	1	0	0	0	17703	826	29	2	154	2	ZMPSTE24	1	40726535	Missense_Mutation	SNP	C	TCGA-CZ-5460-01A-01D-1501-10		40726535	208524086	1	32319											
PKN2	5586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	89236126	89236126	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr1:89236126A>T	ENST00000370521.3	+	4	955	c.596A>T	c.(595-597)cAg>cTg	p.Q199L	PKN2_ENST00000316005.7_Missense_Mutation_p.Q199L|PKN2_ENST00000370505.3_Missense_Mutation_p.Q42L|PKN2_ENST00000370513.5_Missense_Mutation_p.Q199L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	199					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.Q199L(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CAGGCAGTCCAGACTAATGAA	0.408																																																2	Substitution - Missense(2)	kidney(2)											138	134	135					1																	89236126		1906	4133	6039	SO:0001583	missense	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.596A>T	1.37:g.89236126A>T	ENSP00000359552:p.Gln199Leu		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	CCDS714.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620477	0.66787	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.35	5.35	0.76521	.	0.000000	0.42821	U	0.000641	T	0.39358	0.1075	M	0.88640	2.97	0.80722	D	1	B;B;B;B	0.15473	0.013;0.006;0.001;0.005	B;B;B;B	0.29862	0.108;0.03;0.006;0.01	T	0.49204	-0.8964	10	0.66056	D	0.02	.	15.6317	0.76917	1.0:0.0:0.0:0.0	.	199;199;199;199	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	L	199;199;42;199	ENSP00000359552:Q199L;ENSP00000317851:Q199L;ENSP00000359536:Q42L;ENSP00000359544:Q199L	ENSP00000317851:Q199L	Q	+	2	0	PKN2	89008714	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.140000	0.66376	0.533000	0.62120	CAG		0.408	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		T	89236126	A	T	89236126	3	4	592	1	0	0	0	0	1	0	0	0	11982	188	7	5	610	5	PKN2	1	89236126	Missense_Mutation	SNP	A	TCGA-CZ-5460-01A-01D-1501-10	48509591	89236126	160014495	2	32320											
SLC16A4	9122	hgsc.bcm.edu;ucsc.edu	37	1	110921820	110921820	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr1:110921820A>T	ENST00000369779.4	-	6	934	c.685T>A	c.(685-687)Tgc>Agc	p.C229S	SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000472422.2_Missense_Mutation_p.C181S|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000437429.2_Missense_Mutation_p.C119S|SLC16A4_ENST00000541986.1_Missense_Mutation_p.C167S	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	229					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)	GTCTCATGGCAGTGTGTTTCT	0.418																																																0													214	198	203					1																	110921820		2203	4300	6503	SO:0001583	missense	9122			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.685T>A	1.37:g.110921820A>T	ENSP00000358794:p.Cys229Ser		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	CCDS823.1	.	.	.	.	.	.	.	.	.	.	a	3.671	-0.067471	0.07273	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986	T;T;T;T	0.22134	2.6;2.43;1.97;2.58	5.81	-3.59	0.04583	Major facilitator superfamily domain, general substrate transporter (1);	4.493540	0.00166	N	0.000000	T	0.04182	0.0116	L	0.49350	1.555	0.09310	N	1	B;B;B;B	0.13145	0.007;0.001;0.0;0.002	B;B;B;B	0.15484	0.013;0.009;0.007;0.005	T	0.20472	-1.0274	10	0.09084	T	0.74	.	1.2022	0.01887	0.348:0.3106:0.138:0.2034	.	119;167;181;229	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	S	229;181;119;167	ENSP00000358794:C229S;ENSP00000432495:C181S;ENSP00000394790:C119S;ENSP00000446087:C167S	ENSP00000358794:C229S	C	-	1	0	SLC16A4	110723343	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.164000	0.16542	-0.169000	0.10834	-0.340000	0.08031	TGC		0.418	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		T	110921820	A	T	110921820	3	4	592	1	0	0	0	0	1	0	0	0	14416	188	7	5	794	5	SLC16A4	1	110921820	Missense_Mutation	SNP	A	TCGA-CZ-5460-01A-01D-1501-10	21685694	110921820	138328801	3	32321											
OR2W5	441932	broad.mit.edu	37	1	247655361	247655361	+	RNA	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr1:247655361G>A	ENST00000522351.1	+	0	992							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G311D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGAGAAAGGGGCTGGGGAGCC	0.488																																																1	Substitution - Missense(1)	kidney(1)											57	61	59					1																	247655361		2203	4300	6503			441932					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655361G>A			B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37																																																																																					0.488	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		A	247655361	G	A	247655361	1	1	592	0	1	0	0	0	0	0	0	0	11036	1203	42	2		2	OR2W5	1	247655361	RNA	SNP	G	TCGA-CZ-5460-01A-01D-1501-10	136733541	247655361	1595260	4	32322											
SLC30A6	55676	broad.mit.edu	37	2	32422862	32422862	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr2:32422862C>T	ENST00000282587.5	+	10	669	c.632C>T	c.(631-633)gCt>gTt	p.A211V	SLC30A6_ENST00000379343.2_Missense_Mutation_p.A251V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.A211V|SLC30A6_ENST00000406369.1_Missense_Mutation_p.A137V|SLC30A6_ENST00000538303.1_Missense_Mutation_p.A182V|SLC30A6_ENST00000357055.3_Missense_Mutation_p.A14V	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	211					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.A211V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGAGCATTTGCTCTTTGTATT	0.348																																																1	Substitution - Missense(1)	kidney(1)											144	135	138					2																	32422862		2203	4300	6503	SO:0001583	missense	55676			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"Solute carriers"	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.632C>T	2.37:g.32422862C>T	ENSP00000282587:p.Ala211Val		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317383	0.81469	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.9	5.9	0.94986	.	0.108799	0.64402	D	0.000006	T	0.55465	0.1922	N	0.13098	0.295	0.58432	D	0.999998	B;B;B;B	0.32283	0.118;0.313;0.171;0.362	B;B;B;B	0.40228	0.217;0.108;0.138;0.323	T	0.58940	-0.7547	10	0.66056	D	0.02	-8.8899	19.0482	0.93030	0.0:1.0:0.0:0.0	.	182;211;251;211	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	V	251;211;211;182;14;137	ENSP00000368648:A251V;ENSP00000282587:A211V;ENSP00000399005:A211V;ENSP00000440678:A182V;ENSP00000349563:A14V;ENSP00000384041:A137V	ENSP00000282587:A211V	A	+	2	0	SLC30A6	32276366	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.126000	0.77201	2.808000	0.96608	0.650000	0.86243	GCT		0.348	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			T	32422862	C	T	32422862	3	4	592	1	0	0	0	0	1	0	0	0	14565	797	28	2	670	2	SLC30A6	2	32422862	Missense_Mutation	SNP	C	TCGA-CZ-5460-01A-01D-1501-10		32422862	210776511	5	32323											
IL18RAP	8807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	103068553	103068553	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr2:103068553A>G	ENST00000264260.2	+	12	2301	c.1712A>G	c.(1711-1713)cAg>cGg	p.Q571R	IL18RAP_ENST00000409369.1_Missense_Mutation_p.Q429R	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	571					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q571R(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACGTGGAACCAGCTCAGAATT	0.483																																																1	Substitution - Missense(1)	kidney(1)											134	146	142					2																	103068553		2203	4300	6503	SO:0001583	missense	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1712A>G	2.37:g.103068553A>G	ENSP00000264260:p.Gln571Arg		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	5.884	0.347192	0.11126	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02525	4.32;4.26	5.8	1.79	0.24919	.	1.844420	0.02480	N	0.088446	T	0.01765	0.0056	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42882	-0.9425	10	0.12430	T	0.62	.	7.0604	0.25123	0.6292:0.0:0.3708:0.0	.	571	O95256	I18RA_HUMAN	R	571;429	ENSP00000264260:Q571R;ENSP00000387201:Q429R	ENSP00000264260:Q571R	Q	+	2	0	IL18RAP	102434985	0.000000	0.05858	0.002000	0.10522	0.203000	0.24098	0.765000	0.26546	0.479000	0.27511	0.528000	0.53228	CAG		0.483	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		G	103068553	A	G	103068553	3	3	592	1	0	0	0	0	1	0	0	0	7650	188	7	3	1750	3	IL18RAP	2	103068553	Missense_Mutation	SNP	A	TCGA-CZ-5460-01A-01D-1501-10	70645691	103068553	140130820	6	32324											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191593	10191593	+	Nonsense_Mutation	SNP	A	A	T	rs281860296		TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr3:10191593A>T	ENST00000256474.2	+	3	1426	c.586A>T	c.(586-588)Aaa>Taa	p.K196*	VHL_ENST00000345392.2_Nonsense_Mutation_p.K155*|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	196					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.K196*(4)|p.K196fs*18(2)|p.K196fs*19(1)|p.P192fs*3(1)|p.N193fs*>16(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AAATGTGCAGAAAGACCTGGA	0.498		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Deletion - Frameshift(5)|Substitution - Nonsense(4)	kidney(9)											72	65	67					3																	10191593		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.586A>T	3.37:g.10191593A>T	ENSP00000256474:p.Lys196*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.940186	0.92526	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.97	4.97	0.65823	.	0.170647	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7872	12.9354	0.58311	1.0:0.0:0.0:0.0	.	.	.	.	X	196;155;114	.	ENSP00000256474:K196X	K	+	1	0	VHL	10166593	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	4.932000	0.63476	2.209000	0.71365	0.533000	0.62120	AAA		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191593	A	T	10191593	4	4	592	1	0	0	0	0	0	1	0	0	17167	247	9	5	596	5	VHL	3	10191593	Nonsense_Mutation	SNP	A	TCGA-CZ-5460-01A-01D-1501-10		10191593	187830837	7	32325											
GOLGA4	2803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	37343778	37343778	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr3:37343778C>A	ENST00000361924.2	+	10	1563	c.1189C>A	c.(1189-1191)Cag>Aag	p.Q397K	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q419K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	397	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.Q397K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATGACTACCCAGGGAGAGGA	0.403																																																1	Substitution - Missense(1)	kidney(1)											61	62	62					3																	37343778		2203	4300	6503	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1189C>A	3.37:g.37343778C>A	ENSP00000354486:p.Gln397Lys		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530574	0.85706	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	T;T;T	0.26067	1.76;1.76;1.81	5.89	5.89	0.94794	.	0.000000	0.32518	N	0.005988	T	0.47192	0.1432	M	0.76574	2.34	0.35071	D	0.762517	D;P;D	0.61697	0.99;0.552;0.981	D;B;P	0.70227	0.968;0.187;0.643	T	0.52411	-0.8579	10	0.18276	T	0.48	.	12.9715	0.58515	0.1265:0.7512:0.1222:0.0	.	397;419;397	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	K	397;419;402;268	ENSP00000354486:Q397K;ENSP00000349305:Q419K;ENSP00000405842:Q268K	ENSP00000349305:Q419K	Q	+	1	0	GOLGA4	37318782	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	3.287000	0.51732	2.793000	0.96121	0.655000	0.94253	CAG		0.403	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		A	37343778	C	A	37343778	3	1	592	1	0	0	0	0	1	0	0	0	6557	595	21	4	1297	4	GOLGA4	3	37343778	Missense_Mutation	SNP	C	TCGA-CZ-5460-01A-01D-1501-10	27152185	37343778	160678652	8	32326											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52584765	52584766	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	-	-	-	TT	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr3:52584765_52584766insTT	ENST00000296302.7	-	28	4678_4679	c.4677_4678insAA	c.(4675-4680)caacagfs	p.Q1560fs	PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Q1523fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Q1505fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.Q1473fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Q1480fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Q1453fs|RNU6-856P_ENST00000516959.1_RNA|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Q1453fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Q1468fs			Q86U86	PB1_HUMAN	polybromo 1	1560	Pro-rich.		Q -> H (found in an endometrial cancer cell line). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGGCTCACCTGTTGTCCATATG	0.48			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4676_4677dupAA	3.37:g.52584766_52584767dupTT	ENSP00000296302:p.Gln1560fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																					0.48	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		TT	52584766	-	TT	52584765	7	5	592	1	0	1	1	0	0	0	0	0	11493	1386	48	0	403	0	PBRM1	3	52584765	Frame_Shift_Ins	INS	-	TCGA-CZ-5460-01A-01D-1501-10	15240987	52584765	145437665	9	32327											
CASR	846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122002936	122002936	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr3:122002936C>T	ENST00000490131.1	+	7	2507	c.2135C>T	c.(2134-2136)aCc>aTc	p.T712I	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.T712I|CASR_ENST00000498619.1_Missense_Mutation_p.T722I	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	712					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.T712I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AAGATCCCCACCAGCTTCCAC	0.567																																																1	Substitution - Missense(1)	kidney(1)											61	56	57					3																	122002936		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2135C>T	3.37:g.122002936C>T	ENSP00000418685:p.Thr712Ile		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873815	0.51695	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87966	-2.32;-2.32;-2.32	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91382	0.7281	L	0.39898	1.24	0.58432	D	0.999992	D;D	0.89917	1.0;0.978	D;P	0.87578	0.998;0.824	D	0.91433	0.5167	10	0.72032	D	0.01	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	722;712	E7ENE0;P41180	.;CASR_HUMAN	I	712;722;712	ENSP00000418685:T712I;ENSP00000420194:T722I;ENSP00000296154:T712I	ENSP00000296154:T712I	T	+	2	0	CASR	123485626	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.848000	0.62874	2.873000	0.98535	0.561000	0.74099	ACC		0.567	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		T	122002936	C	T	122002936	3	4	592	1	0	0	0	0	1	0	0	0	2684	507	18	2	2187	2	CASR	3	122002936	Missense_Mutation	SNP	C	TCGA-CZ-5460-01A-01D-1501-10	69418171	122002936	76019494	10	32328											
INPP4B	8821	hgsc.bcm.edu;ucsc.edu	37	4	143067033	143067034	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr4:143067033_143067034insT	ENST00000513000.1	-	19	2112_2113	c.1679_1680insA	c.(1678-1680)aagfs	p.K560fs	INPP4B_ENST00000308502.4_Frame_Shift_Ins_p.K560fs|INPP4B_ENST00000509777.1_Frame_Shift_Ins_p.K560fs|INPP4B_ENST00000262992.4_Frame_Shift_Ins_p.K560fs|INPP4B_ENST00000508116.1_Frame_Shift_Ins_p.K560fs	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	560					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATGAAGGTTCCTTTTCTCCATC	0.411																																																0																																										SO:0001589	frameshift_variant	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1680dupA	4.37:g.143067037_143067037dupT	ENSP00000425487:p.Lys560fs		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Frame_Shift_Ins	INS	ENST00000513000.1	37	CCDS3757.1																																																																																				0.411	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		T	143067034	-	T	143067033	7	5	592	1	0	1	1	0	0	0	0	0	7755	680	24	0	1130	0	INPP4B	4	143067033	Frame_Shift_Ins	INS	-	TCGA-CZ-5460-01A-01D-1501-10		143067033	48087243	11	32329											
FGG	2266	broad.mit.edu	37	4	155527857	155527857	+	Splice_Site	SNP	C	C	T	rs192482410		TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr4:155527857C>T	ENST00000336098.3	-	8	1167	c.1129G>A	c.(1129-1131)Ggt>Agt	p.G377S	FGG_ENST00000404648.3_Splice_Site_p.G377S|FGG_ENST00000405164.1_Splice_Site_p.G385S|FGG_ENST00000407946.1_Splice_Site_p.G385S	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	377	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		G -> VMCGEALPMLKDPCYS (in Paris-1; impaired polymerization). {ECO:0000269|PubMed:8470043}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.G377S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAAAACATACCTTGGTAATAA	0.323																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM071762	FGG	M	rs192482410						131	125	127					4																	155527857		2203	4300	6503	SO:0001630	splice_region_variant	2266				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1129+1G>A	4.37:g.155527857C>T			A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446431	0.96187	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.91	5.91	0.95273	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88209	0.6375	L	0.55103	1.725	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.89;1.0;1.0;1.0	D;P;D;D;D	0.97110	1.0;0.811;0.998;0.999;1.0	D	0.85904	0.1436	9	.	.	.	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	274;385;377;385;377	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	S	377;385;377;385	ENSP00000384860:G377S;ENSP00000384101:G385S;ENSP00000336829:G377S;ENSP00000384552:G385S	.	G	-	1	0	FGG	155747307	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.590000	0.82653	2.802000	0.96397	0.655000	0.94253	GGT		0.323	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	Missense_Mutation	T	155527857	C	T	155527857	5	4	592	1	0	0	0	0	0	0	1	0	5872	695	24	2	259	2	FGG	4	155527857	Splice_Site	SNP	C	TCGA-CZ-5460-01A-01D-1501-10	12460824	155527857	35626419	12	32330											
AGA	175	broad.mit.edu;ucsc.edu	37	4	178357480	178357480	+	Silent	SNP	T	T	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr4:178357480T>A	ENST00000264595.2	-	6	775	c.648A>T	c.(646-648)ggA>ggT	p.G216G	AGA_ENST00000506853.1_Intron	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	216					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)	p.G216G(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGCAATATGTCCTGTCTTAT	0.328																																																1	Substitution - coding silent(1)	kidney(1)											140	134	136					4																	178357480		2202	4300	6502	SO:0001819	synonymous_variant	175			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.648A>T	4.37:g.178357480T>A			B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Silent	SNP	ENST00000264595.2	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	T	0.679	-0.798956	0.02841	.	.	ENSG00000038002	ENST00000510635	.	.	.	5.69	0.0362	0.14191	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37337	-0.9710	4	.	.	.	-27.9636	5.0055	0.14286	0.0:0.2146:0.2711:0.5143	.	.	.	.	V	115	.	.	D	-	2	0	AGA	178594474	0.927000	0.31430	0.075000	0.20258	0.130000	0.20726	0.422000	0.21296	0.081000	0.16988	-0.250000	0.11733	GAC		0.328	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		A	178357480	T	A	178357480	2	1	592	1	0	0	0	0	0	0	0	1	365	1654	58	5		5	AGA	4	178357480	Silent	SNP	T	TCGA-CZ-5460-01A-01D-1501-10	22829623	178357480	12796796	13	32331											
CWC27	10283	broad.mit.edu;ucsc.edu	37	5	64082386	64082386	+	Silent	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr5:64082386G>A	ENST00000381070.3	+	6	748	c.531G>A	c.(529-531)agG>agA	p.R177R	CWC27_ENST00000508024.1_Silent_p.R177R	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	177					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R177R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TCATTCCAAGGGAAATTAAAA	0.313																																																1	Substitution - coding silent(1)	kidney(1)											72	73	73					5																	64082386		2203	4299	6502	SO:0001819	synonymous_variant	10283			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 10"	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.531G>A	5.37:g.64082386G>A			O60529|O60530|Q96EM3	Silent	SNP	ENST00000381070.3	37	CCDS3982.2																																																																																				0.313	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		A	64082386	G	A	64082386	2	1	592	1	0	0	0	0	0	0	0	1	4072	1223	43	2		2	CWC27	5	64082386	Silent	SNP	G	TCGA-CZ-5460-01A-01D-1501-10		64082386	116832874	14	32332											
G3BP1	10146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	151179550	151179550	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr5:151179550G>A	ENST00000394123.3	+	9	1089	c.944G>A	c.(943-945)gGa>gAa	p.G315E	G3BP1_ENST00000356245.3_Missense_Mutation_p.G315E|G3BP1_ENST00000543466.1_Missense_Mutation_p.G133E			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	315					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.G315E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CCCCAAAGGGGACCCAGACCA	0.463																																																1	Substitution - Missense(1)	kidney(1)											30	31	31					5																	151179550		2203	4300	6503	SO:0001583	missense	10146			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.944G>A	5.37:g.151179550G>A	ENSP00000377681:p.Gly315Glu		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050451	0.75960	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.75821	-0.75;-0.97;-0.75	5.29	5.29	0.74685	.	0.103280	0.64402	D	0.000002	T	0.78666	0.4319	M	0.77103	2.36	0.58432	D	0.999996	D	0.59767	0.986	P	0.47206	0.541	T	0.76405	-0.2971	10	0.16420	T	0.52	-12.1992	19.3089	0.94177	0.0:0.0:1.0:0.0	.	315	Q13283	G3BP1_HUMAN	E	315;133;315;157	ENSP00000377681:G315E;ENSP00000445035:G133E;ENSP00000348578:G315E	ENSP00000274596:G157E	G	+	2	0	G3BP1	151159743	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.652000	0.74377	2.631000	0.89168	0.650000	0.86243	GGA		0.463	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		A	151179550	G	A	151179550	3	1	592	1	0	0	0	0	1	0	0	0	6143	1174	41	2	974	2	G3BP1	5	151179550	Missense_Mutation	SNP	G	TCGA-CZ-5460-01A-01D-1501-10	87097164	151179550	29735710	15	32333											
DPCR1	135656	hgsc.bcm.edu;ucsc.edu	37	6	30918543	30918545	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr6:30918543_30918545delTTG	ENST00000462446.1	+	2	2330_2332	c.2302_2304delTTG	c.(2302-2304)ttgdel	p.L768del	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	341						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAGGACTCCATTGGCCAATGAGA	0.488																																																0																																										SO:0001651	inframe_deletion	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2302_2304delTTG	6.37:g.30918543_30918545delTTG	ENSP00000417182:p.Leu768del		C9IZC0|Q658M7|Q8WYN2	In_Frame_Del	DEL	ENST00000462446.1	37	CCDS4692.2																																																																																				0.488	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		-	30918545	TTG	-	30918543	7	5	592	1	0	1	0	1	0	0	0	0	4714	1490	52	0	2308	0	DPCR1	6	30918543	In_Frame_Del	DEL	TTG	TCGA-CZ-5460-01A-01D-1501-10		30918543	140196524	16	32334											
GJA10	84694	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90604723	90604723	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr6:90604723A>G	ENST00000369352.1	+	1	536	c.536A>G	c.(535-537)tAt>tGt	p.Y179C		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	179					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.Y179C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TATATTCTCTATGGGTTTCAA	0.448																																																1	Substitution - Missense(1)	kidney(1)											135	133	134					6																	90604723		2203	4300	6503	SO:0001583	missense	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.536A>G	6.37:g.90604723A>G	ENSP00000358358:p.Tyr179Cys		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842702	0.71488	.	.	ENSG00000135355	ENST00000369352	D	0.97994	-4.65	4.91	4.91	0.64330	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	H	0.96518	3.835	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99342	1.0912	10	0.87932	D	0	.	14.724	0.69329	1.0:0.0:0.0:0.0	.	179	Q969M2	CXA10_HUMAN	C	179	ENSP00000358358:Y179C	ENSP00000358358:Y179C	Y	+	2	0	GJA10	90661444	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.125000	0.77193	2.079000	0.62486	0.460000	0.39030	TAT		0.448	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		G	90604723	A	G	90604723	3	3	592	1	0	0	0	0	1	0	0	0	6403	449	16	3	538	3	GJA10	6	90604723	Missense_Mutation	SNP	A	TCGA-CZ-5460-01A-01D-1501-10	59686180	90604723	80510344	17	32335											
PLG	5340	hgsc.bcm.edu;ucsc.edu	37	6	161155095	161155095	+	Silent	SNP	C	C	T	rs113153850		TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr6:161155095C>T	ENST00000308192.9	+	13	1719	c.1656C>T	c.(1654-1656)taC>taT	p.Y552Y		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	552	Kringle 5. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAAACTTTACGACTACTGTG	0.443																																																0								C		1,4405		0,1,2202	241	165	191		1656	-3.9	0.9	6	dbSNP_132	191	0,8600		0,0,4300	no	coding-synonymous	PLG	NM_000301.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		552/811	161155095	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1656C>T	6.37:g.161155095C>T			Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																				0.443	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		T	161155095	C	T	161155095	2	4	592	1	0	0	0	0	0	0	0	1	12088	547	19	1		1	PLG	6	161155095	Silent	SNP	C	TCGA-CZ-5460-01A-01D-1501-10	70550372	161155095	9959972	18	32336											
AHR	196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	17379447	17379448	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr7:17379447_17379448insC	ENST00000242057.4	+	10	2641_2642	c.1998_1999insC	c.(1999-2001)caafs	p.Q667fs		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	667					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ATTGTCCACAGCAAGACCCACA	0.401																																																0																																										SO:0001589	frameshift_variant	196			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1999dupC	7.37:g.17379448_17379448dupC	ENSP00000242057:p.Gln667fs		A4D130|Q13728|Q13803|Q13804	Frame_Shift_Ins	INS	ENST00000242057.4	37	CCDS5366.1																																																																																				0.401	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		C	17379448	-	C	17379447	7	5	592	1	0	1	1	0	0	0	0	0	416	962	34	0	2036	0	AHR	7	17379447	Frame_Shift_Ins	INS	-	TCGA-CZ-5460-01A-01D-1501-10		17379447	141759216	19	32337											
TAX1BP1	8887	hgsc.bcm.edu	37	7	27856058	27856059	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr7:27856058_27856059insA	ENST00000396319.2	+	14	1943_1944	c.1855_1856insA	c.(1855-1857)caafs	p.Q619fs	TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000409980.1_Frame_Shift_Ins_p.Q643fs	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	619					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ATGCTCAGAGCAAAATGGTTAT	0.361																																																0																																										SO:0001589	frameshift_variant	8887			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1859dupA	7.37:g.27856062_27856062dupA	ENSP00000379612:p.Gln619fs		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Frame_Shift_Ins	INS	ENST00000396319.2	37	CCDS5415.1																																																																																				0.361	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		A	27856059	-	A	27856058	7	5	592	1	0	1	1	0	0	0	0	0	15599	711	25	0	1905	0	TAX1BP1	7	27856058	Frame_Shift_Ins	INS	-	TCGA-CZ-5460-01A-01D-1501-10	10476611	27856058	131282605	20	32338											
IFNA1	3439	broad.mit.edu	37	9	21440985	21440985	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr9:21440985G>A	ENST00000276927.1	+	1	546	c.479G>A	c.(478-480)aGc>aAc	p.S160N		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	160					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S160N(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		AAGAAATACAGCCCTTGTGCC	0.453																																																1	Substitution - Missense(1)	kidney(1)											59	71	67					9																	21440985		2184	4270	6454	SO:0001583	missense	3439				CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"Interferons"	5417	protein-coding gene	gene with protein product	"IFN-alpha 1b", "interferon alpha 1b"	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.479G>A	9.37:g.21440985G>A	ENSP00000276927:p.Ser160Asn		D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000276927.1	37	CCDS6508.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209015	0.79240	.	.	ENSG00000197919	ENST00000276927	T	0.10573	2.86	3.21	3.21	0.36854	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.147381	0.64402	D	0.000012	T	0.28366	0.0701	M	0.90369	3.11	0.21105	N	0.999788	B	0.27765	0.188	P	0.46049	0.502	T	0.20874	-1.0262	10	0.72032	D	0.01	.	6.4321	0.21803	0.1389:0.0:0.8611:0.0	.	160	P01562	IFNA1_HUMAN	N	160	ENSP00000276927:S160N	ENSP00000276927:S160N	S	+	2	0	IFNA1	21430985	0.386000	0.25180	0.097000	0.21041	0.959000	0.62525	1.124000	0.31320	1.791000	0.52520	0.603000	0.83216	AGC		0.453	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051902.1	NM_024013		A	21440985	G	A	21440985	3	1	592	1	0	0	0	0	1	0	0	0	7533	971	34	2	481	2	IFNA1	9	21440985	Missense_Mutation	SNP	G	TCGA-CZ-5460-01A-01D-1501-10		21440985	119772446	21	32339											
FRMPD1	22844	broad.mit.edu;ucsc.edu	37	9	37744613	37744613	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr9:37744613A>T	ENST00000539465.1	+	16	3177	c.2584A>T	c.(2584-2586)Agt>Tgt	p.S862C	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S862C|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	862						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S862C(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCCCTGGAGAGTGTAGACGA	0.562																																																1	Substitution - Missense(1)	kidney(1)											80	76	77					9																	37744613		2203	4300	6503	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2584A>T	9.37:g.37744613A>T	ENSP00000444411:p.Ser862Cys		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574026	0.86542	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.09255	3.0;3.0	5.53	5.53	0.82687	.	0.288937	0.38959	N	0.001513	T	0.19046	0.0457	L	0.55481	1.735	0.80722	D	1	D	0.60575	0.988	P	0.50231	0.635	T	0.00400	-1.1763	10	0.72032	D	0.01	-8.5753	13.5998	0.62013	1.0:0.0:0.0:0.0	.	862	Q5SYB0	FRPD1_HUMAN	C	862	ENSP00000366995:S862C;ENSP00000444411:S862C	ENSP00000366995:S862C	S	+	1	0	FRMPD1	37734613	0.991000	0.36638	0.989000	0.46669	0.918000	0.54935	3.038000	0.49783	2.104000	0.64026	0.459000	0.35465	AGT		0.562	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		T	37744613	A	T	37744613	3	4	592	1	0	0	0	0	1	0	0	0	6059	304	11	5	2642	5	FRMPD1	9	37744613	Missense_Mutation	SNP	A	TCGA-CZ-5460-01A-01D-1501-10	16303628	37744613	103468818	22	32340											
PRUNE2	158471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79438564	79438565	+	Missense_Mutation	DNP	AC	AC	GG			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr9:79438564_79438565AC>GG	ENST00000376718.3	-	6	862_863	c.739_740GT>CC	c.(739-741)GTg>CCg	p.V247P	PRUNE2_ENST00000376713.3_Missense_Mutation_p.V247P|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	247					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.V247A(2)|p.V247L(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTCATGCTCACAGTACTAATG	0.391																																																4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.739_740delinsGG	9.37:g.79438564_79438565delinsGG	ENSP00000365908:p.Val247Pro		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1																																																																																				0.391	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		GG	79438565	AC	GG	79438564	3	3	592	1	0	0	0	0	1	0	0	0	12646	159	6	3	8582	3	PRUNE2	9	79438564	Missense_Mutation	DNP	AC	TCGA-CZ-5460-01A-01D-1501-10	41693951	79438564	61774867	23	32341											
WNK2	65268	broad.mit.edu;ucsc.edu	37	9	95997112	95997112	+	Silent	SNP	C	C	T	rs113308587		TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr9:95997112C>T	ENST00000297954.4	+	4	1098	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.P366P|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Silent_p.P352P	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P366P(1)|p.P352P(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCATGGCGCCCGAGATGTACG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19693	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)						C		8,4398	14.3+/-33.2	0,8,2195	112	80	91		1098	-9.9	0	9	dbSNP_132	91	0,8600		0,0,4300	no	coding-synonymous	WNK2	NM_006648.3		0,8,6495	TT,TC,CC		0.0,0.1816,0.0615		366/2218	95997112	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1098C>T	9.37:g.95997112C>T			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.535	0.659491	0.14645	0.001816	0.0	ENSG00000165238	ENST00000432730	T	0.75154	-0.91	4.95	-9.91	0.00458	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79210	-0.1897	7	0.87932	D	0	.	5.0335	0.14423	0.2259:0.2043:0.0569:0.5129	.	.	.	.	L	362	ENSP00000415038:P362L	ENSP00000415038:P362L	P	+	2	0	WNK2	95036933	0.000000	0.05858	0.004000	0.12327	0.913000	0.54294	-4.626000	0.00206	-4.393000	0.00052	-1.099000	0.02127	CCG		0.622	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		T	95997112	C	T	95997112	2	4	592	1	0	0	0	0	0	0	0	1	17383	639	23	1		1	WNK2	9	95997112	Silent	SNP	C	TCGA-CZ-5460-01A-01D-1501-10	16558548	95997112	45216319	24	32342											
ABCA1	19	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	107573110	107573110	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr9:107573110C>A	ENST00000374736.3	-	29	4540	c.4146G>T	c.(4144-4146)tgG>tgT	p.W1382C		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1382					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.W1382C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CGTTGTACATCCAGGGCTGAA	0.498																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM045654	ABCA1	M							201	176	184					9																	107573110		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4146G>T	9.37:g.107573110C>A	ENSP00000363868:p.Trp1382Cys		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818592	0.71028	.	.	ENSG00000165029	ENST00000374736	D	0.92249	-3.0	5.55	5.55	0.83447	.	0.266592	0.45606	D	0.000360	D	0.95971	0.8688	M	0.78456	2.415	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	D	0.95573	0.8640	10	0.56958	D	0.05	.	19.8667	0.96806	0.0:1.0:0.0:0.0	.	1382	O95477	ABCA1_HUMAN	C	1382	ENSP00000363868:W1382C	ENSP00000363868:W1382C	W	-	3	0	ABCA1	106612931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.939000	0.63526	2.773000	0.95371	0.655000	0.94253	TGG		0.498	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		A	107573110	C	A	107573110	3	1	592	1	0	0	0	0	1	0	0	0	28	856	30	4	2727	4	ABCA1	9	107573110	Missense_Mutation	SNP	C	TCGA-CZ-5460-01A-01D-1501-10	11575998	107573110	33640321	25	32343											
SFMBT2	57713	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	7217995	7217996	+	Missense_Mutation	DNP	TT	TT	AG			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr10:7217995_7217996TT>AG	ENST00000361972.4	-	17	2030_2031	c.1940_1941AA>CT	c.(1939-1941)gAA>gCT	p.E647A	SFMBT2_ENST00000397167.1_Missense_Mutation_p.E647A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	647					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.E647D(1)|p.E647A(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGGCAGTTTTCAGATATCAG	0.426																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1940_1941delinsAG	10.37:g.7217995_7217996delinsAG	ENSP00000355109:p.Glu647Ala		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																				0.426	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		AG	7217996	TT	AG	7217995	3	1	592	1	0	0	0	0	1	0	0	0	14164	1838	64	5	763	5	SFMBT2	10	7217995	Missense_Mutation	DNP	TT	TCGA-CZ-5460-01A-01D-1501-10		7217995	128316752	26	32344											
ANKRD1	27063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	92679944	92679944	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr10:92679944C>A	ENST00000371697.3	-	2	437	c.189G>T	c.(187-189)gaG>gaT	p.E63D	RNU6-740P_ENST00000364734.1_RNA	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	63					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.E63D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CTCGTTGTTTCTCGCTTTTCC	0.512																																																1	Substitution - Missense(1)	kidney(1)											203	185	191					10																	92679944		2203	4300	6503	SO:0001583	missense	27063			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"Ankyrin repeat domain containing"	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.189G>T	10.37:g.92679944C>A	ENSP00000360762:p.Glu63Asp		Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461334	0.43736	.	.	ENSG00000148677	ENST00000371697	T	0.69040	-0.37	5.76	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	L	0.36672	1.1	0.37858	D	0.929639	P	0.38922	0.651	B	0.30401	0.115	T	0.49899	-0.8890	10	0.27082	T	0.32	.	9.9208	0.41464	0.0:0.7928:0.0:0.2072	.	63	Q15327	ANKR1_HUMAN	D	63	ENSP00000360762:E63D	ENSP00000360762:E63D	E	-	3	2	ANKRD1	92669924	1.000000	0.71417	0.998000	0.56505	0.582000	0.36321	2.488000	0.45276	0.907000	0.36646	-0.145000	0.13849	GAG		0.512	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		A	92679944	C	A	92679944	3	1	592	1	0	0	0	0	1	0	0	0	637	912	32	4	802	4	ANKRD1	10	92679944	Missense_Mutation	SNP	C	TCGA-CZ-5460-01A-01D-1501-10	85461949	92679944	42854803	27	32345											
GPAM	57678	broad.mit.edu;ucsc.edu	37	10	113932775	113932775	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr10:113932775T>C	ENST00000348367.4	-	8	807	c.610A>G	c.(610-612)Att>Gtt	p.I204V	GPAM_ENST00000423155.1_Missense_Mutation_p.I204V|GPAM_ENST00000369425.1_Missense_Mutation_p.I204V			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	204				I -> F (in Ref. 1; CAD89932). {ECO:0000305}.	acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.I204V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGAATTTGAATGTTCCAAAAG	0.373																																					Ovarian(161;1017 2606 18293 52943)											1	Substitution - Missense(1)	kidney(1)											126	121	123					10																	113932775		2203	4300	6503	SO:0001583	missense	57678			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.610A>G	10.37:g.113932775T>C	ENSP00000265276:p.Ile204Val		Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	T	8.636	0.894824	0.17613	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.94046	-3.34;-3.34;-3.34	6.06	4.74	0.60224	.	0.052909	0.85682	D	0.000000	D	0.86037	0.5837	N	0.13168	0.305	0.53005	D	0.999968	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.011	T	0.81955	-0.0696	10	0.41790	T	0.15	-24.8291	11.4215	0.49985	0.0:0.0786:0.0:0.9214	.	204;204	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	V	204	ENSP00000265276:I204V;ENSP00000409242:I204V;ENSP00000358433:I204V	ENSP00000265276:I204V	I	-	1	0	GPAM	113922765	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.793000	0.55484	2.315000	0.78130	0.533000	0.62120	ATT		0.373	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		C	113932775	T	C	113932775	3	2	592	1	0	0	0	0	1	0	0	0	6590	1464	51	3	1936	3	GPAM	10	113932775	Missense_Mutation	SNP	T	TCGA-CZ-5460-01A-01D-1501-10	21252831	113932775	21601972	28	32346											
SPTBN2	6712	broad.mit.edu	37	11	66463961	66463961	+	Silent	SNP	C	C	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr11:66463961C>A	ENST00000533211.1	-	21	4396	c.4065G>T	c.(4063-4065)tcG>tcT	p.S1355S	SPTBN2_ENST00000309996.2_Silent_p.S1355S|SPTBN2_ENST00000529997.1_Silent_p.S1355S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1355					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.S1355S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCAGCTTCTCCGACACCAGGG	0.572																																																2	Substitution - coding silent(2)	lung(1)|kidney(1)											99	109	106					11																	66463961		2200	4295	6495	SO:0001819	synonymous_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4065G>T	11.37:g.66463961C>A			O14872|O14873	Silent	SNP	ENST00000533211.1	37	CCDS8150.1																																																																																				0.572	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		A	66463961	C	A	66463961	2	1	592	1	0	0	0	0	0	0	0	1	15125	639	23	4		4	SPTBN2	11	66463961	Silent	SNP	C	TCGA-CZ-5460-01A-01D-1501-10		66463961	68542555	29	32347											
CLPB	81570	broad.mit.edu;ucsc.edu	37	11	72012970	72012970	+	Silent	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr11:72012970G>A	ENST00000294053.3	-	12	1469	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	CLPB_ENST00000437826.2_Silent_p.G387G|CLPB_ENST00000543042.1_Silent_p.G231G|CLPB_ENST00000538039.1_Silent_p.G402G|CLPB_ENST00000340729.5_Silent_p.G373G|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000538021.1_Silent_p.G40G	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	432					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.G432G(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCTCCTCATGGCCAACGTAGC	0.522																																																1	Substitution - coding silent(1)	kidney(1)											143	121	128					11																	72012970		2200	4293	6493	SO:0001819	synonymous_variant	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1296C>T	11.37:g.72012970G>A			B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	ENST00000294053.3	37	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198157	0.22037	.	.	ENSG00000162129	ENST00000544382	.	.	.	5.63	4.69	0.59074	.	.	.	.	.	T	0.61185	0.2327	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57906	-0.7730	4	.	.	.	-19.8082	10.5361	0.45004	0.0:0.1431:0.7086:0.1483	.	.	.	.	V	210	.	.	A	-	2	0	CLPB	71690618	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.126000	0.31344	2.652000	0.90054	0.655000	0.94253	GCC		0.522	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		A	72012970	G	A	72012970	2	1	592	1	0	0	0	0	0	0	0	1	3553	1190	42	2		2	CLPB	11	72012970	Silent	SNP	G	TCGA-CZ-5460-01A-01D-1501-10	5549009	72012970	62993546	30	32348											
CACNA1C	775	broad.mit.edu	37	12	2595320	2595320	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:2595320C>T	ENST00000347598.4	+	6	808	c.808C>T	c.(808-810)Cac>Tac	p.H270Y	CACNA1C_ENST00000335762.5_Missense_Mutation_p.H270Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399655.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.H270Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.H270Y	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	270					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.H270Y(3)|p.H300Y(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCCCTGCTGCACATCGCCCT	0.572																																																4	Substitution - Missense(4)	kidney(4)											107	109	108					12																	2595320		2202	4300	6502	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.808C>T	12.37:g.2595320C>T	ENSP00000266376:p.His270Tyr		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864719	0.91511	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.0	5.0	0.66597	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	L	0.60957	1.885	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.986;0.996;1.0;0.975;0.997;0.962;0.997;0.998;1.0;0.997;0.962;0.998;0.995;0.997;0.998;0.962;1.0;0.997;0.992;0.962;0.997;0.997;0.962;0.962	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D	0.87578	0.974;0.986;0.995;0.974;0.993;0.946;0.993;0.986;0.991;0.993;0.946;0.986;0.993;0.992;0.996;0.946;0.998;0.993;0.877;0.946;0.993;0.993;0.946;0.946	D	0.99751	1.1018	10	0.59425	D	0.04	.	18.4877	0.90835	0.0:1.0:0.0:0.0	.	270;270;270;270;270;270;270;270;270;270;270;241;270;270;270;270;270;270;270;270;270;270;270;270	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Y	270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;270;111	ENSP00000336982:H270Y;ENSP00000382563:H270Y;ENSP00000437936:H270Y;ENSP00000382552:H270Y;ENSP00000382547:H270Y;ENSP00000382506:H270Y;ENSP00000382530:H270Y;ENSP00000382546:H270Y;ENSP00000382500:H270Y;ENSP00000382549:H270Y;ENSP00000266376:H270Y;ENSP00000382515:H270Y;ENSP00000382510:H270Y;ENSP00000341092:H270Y;ENSP00000382537:H270Y;ENSP00000329877:H270Y;ENSP00000382557:H270Y;ENSP00000385724:H270Y;ENSP00000382512:H270Y;ENSP00000382542:H270Y;ENSP00000382526:H270Y;ENSP00000385896:H270Y;ENSP00000382504:H270Y	ENSP00000323129:H111Y	H	+	1	0	CACNA1C	2465581	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.609000	0.82925	2.595000	0.87683	0.655000	0.94253	CAC		0.572	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2595320	C	T	2595320	3	4	592	1	0	0	0	0	1	0	0	0	2542	710	25	2	830	2	CACNA1C	12	2595320	Missense_Mutation	SNP	C	TCGA-CZ-5460-01A-01D-1501-10		2595320	131256575	31	32349											
TAS2R50	259296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	11138584	11138584	+	Silent	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:11138584C>T	ENST00000506868.1	-	1	927	c.876G>A	c.(874-876)ttG>ttA	p.L292L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	292					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.L292L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GACACAAAATCAAAAGAAAGG	0.388																																																1	Substitution - coding silent(1)	kidney(1)											81	91	88					12																	11138584		2197	4299	6496	SO:0001819	synonymous_variant	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.876G>A	12.37:g.11138584C>T			P59545|Q2M255|Q645Y0	Silent	SNP	ENST00000506868.1	37	CCDS8638.1																																																																																				0.388	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		T	11138584	C	T	11138584	2	4	592	1	0	0	0	0	0	0	0	1	15589	825	29	2		2	TAS2R50	12	11138584	Silent	SNP	C	TCGA-CZ-5460-01A-01D-1501-10	8543264	11138584	122713311	32	32350											
ARID2	196528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46245726	46245726	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:46245726delG	ENST00000334344.6	+	15	3992	c.3820delG	c.(3820-3822)ggafs	p.G1274fs	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.G1125fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.G884fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1274					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTGCCGACGAGGAGCCACAAA	0.428			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													54	53	53					12																	46245726		2203	4300	6503	SO:0001589	frameshift_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3820delG	12.37:g.46245726delG	ENSP00000335044:p.Gly1274fs		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	CCDS31783.1																																																																																				0.428	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		-	46245726	G	-	46245726	7	5	592	1	0	1	0	1	0	0	0	0	915	1001	35	0	3878	0	ARID2	12	46245726	Frame_Shift_Del	DEL	G	TCGA-CZ-5460-01A-01D-1501-10	35107142	46245726	87606169	33	32351											
PTPRR	5801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	71033004	71033004	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:71033004C>T	ENST00000283228.2	-	14	2386	c.1934G>A	c.(1933-1935)tGc>tAc	p.C645Y	PTPRR_ENST00000440835.2_Missense_Mutation_p.C400Y|PTPRB_ENST00000334414.6_5'Flank|PTPRR_ENST00000378778.1_Missense_Mutation_p.C439Y|PTPRB_ENST00000550358.1_5'Flank|PTPRR_ENST00000537619.2_5'UTR|PTPRB_ENST00000538174.2_5'Flank|PTPRR_ENST00000549308.1_Missense_Mutation_p.C400Y|PTPRR_ENST00000342084.4_Missense_Mutation_p.C533Y|PTPRB_ENST00000551525.1_5'Flank	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	645	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.C645Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTCATACAGGCACAGAGCATG	0.423																																																1	Substitution - Missense(1)	kidney(1)											197	174	182					12																	71033004		2203	4300	6503	SO:0001583	missense	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1934G>A	12.37:g.71033004C>T	ENSP00000283228:p.Cys645Tyr		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621838	0.28889	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.77	5.77	0.91146	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.215616	0.31660	N	0.007268	T	0.36082	0.0954	N	0.25094	0.71	0.39547	D	0.968904	D;D;D	0.67145	0.987;0.995;0.996	B;P;P	0.53313	0.387;0.713;0.723	T	0.07347	-1.0777	10	0.41790	T	0.15	-3.5922	19.9946	0.97381	0.0:1.0:0.0:0.0	.	533;439;645	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	Y	400;645;439;533;400	ENSP00000391750:C400Y;ENSP00000283228:C645Y;ENSP00000368054:C439Y;ENSP00000339605:C533Y;ENSP00000446943:C400Y	ENSP00000283228:C645Y	C	-	2	0	PTPRR	69319271	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.048000	0.64238	2.728000	0.93425	0.591000	0.81541	TGC		0.423	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		T	71033004	C	T	71033004	3	4	592	1	0	0	0	0	1	0	0	0	12816	710	25	2	43	2	PTPRR	12	71033004	Missense_Mutation	SNP	C	TCGA-CZ-5460-01A-01D-1501-10	24787278	71033004	62818891	34	32352											
WSB2	55884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	118481141	118481141	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:118481141T>A	ENST00000315436.3	-	3	365	c.224A>T	c.(223-225)aAt>aTt	p.N75I	WSB2_ENST00000441406.2_Missense_Mutation_p.N92I|WSB2_ENST00000535496.1_Missense_Mutation_p.N77I|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	75					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.N75I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTCGTCTCATTTTTGCTACT	0.517																																																1	Substitution - Missense(1)	kidney(1)											127	134	132					12																	118481141		2203	4300	6503	SO:0001583	missense	55884			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.224A>T	12.37:g.118481141T>A	ENSP00000319474:p.Asn75Ile		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.392352	0.42410	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.61980	0.3;0.32;0.34;0.06	5.24	1.58	0.23477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	2.134680	0.01201	N	0.007565	T	0.39253	0.1071	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.50541	-0.8816	10	0.25106	T	0.35	-8.2002	1.0966	0.01675	0.1324:0.1806:0.218:0.469	.	75	Q9NYS7	WSB2_HUMAN	I	75;92;77;77	ENSP00000319474:N75I;ENSP00000409131:N92I;ENSP00000439450:N77I;ENSP00000440386:N77I	ENSP00000319474:N75I	N	-	2	0	WSB2	116965524	0.816000	0.29132	1.000000	0.80357	0.990000	0.78478	0.956000	0.29202	0.475000	0.27415	0.529000	0.55759	AAT		0.517	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		A	118481141	T	A	118481141	3	1	592	1	0	0	0	0	1	0	0	0	17410	1493	52	5	1018	5	WSB2	12	118481141	Missense_Mutation	SNP	T	TCGA-CZ-5460-01A-01D-1501-10	47448137	118481141	15370754	35	32353	241	2									
WSB2	55884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	118481144	118481144	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr12:118481144T>A	ENST00000315436.3	-	3	362	c.221A>T	c.(220-222)aAa>aTa	p.K74I	WSB2_ENST00000441406.2_Missense_Mutation_p.K91I|WSB2_ENST00000535496.1_Missense_Mutation_p.K76I|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	74					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.K74I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTCTCATTTTTGCTACTTCG	0.512																																																1	Substitution - Missense(1)	kidney(1)											127	135	132					12																	118481144		2203	4300	6503	SO:0001583	missense	55884			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.221A>T	12.37:g.118481144T>A	ENSP00000319474:p.Lys74Ile		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058798	0.55325	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.62232	0.27;0.3;0.31;0.04	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	2.719140	0.00834	N	0.001689	T	0.55529	0.1926	N	0.22421	0.69	0.80722	D	1	B	0.30406	0.278	B	0.25405	0.06	T	0.13522	-1.0506	10	0.48119	T	0.1	-15.6347	14.3095	0.66407	0.0:0.0:0.0:1.0	.	74	Q9NYS7	WSB2_HUMAN	I	74;91;76;76	ENSP00000319474:K74I;ENSP00000409131:K91I;ENSP00000439450:K76I;ENSP00000440386:K76I	ENSP00000319474:K74I	K	-	2	0	WSB2	116965527	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.414000	0.59802	2.206000	0.71126	0.529000	0.55759	AAA		0.512	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		A	118481144	T	A	118481144	3	1	592	1	0	0	0	0	1	0	0	0	17410	1841	64	5	1021	5	WSB2	12	118481144	Missense_Mutation	SNP	T	TCGA-CZ-5460-01A-01D-1501-10	3	118481144	15370751	36	32354	241	2									
OR4N2	390429	broad.mit.edu	37	14	20296164	20296164	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr14:20296164A>G	ENST00000315947.1	+	1	557	c.557A>G	c.(556-558)aAg>aGg	p.K186R	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K186R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGTCATCAAGCTGGCCTGC	0.532																																																1	Substitution - Missense(1)	kidney(1)											144	147	146					14																	20296164		2203	4300	6503	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.557A>G	14.37:g.20296164A>G	ENSP00000319601:p.Lys186Arg		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	13.59	2.281567	0.40394	.	.	ENSG00000176294	ENST00000315947	T	0.00269	8.37	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000079	T	0.00210	0.0006	L	0.48362	1.52	0.27745	N	0.944354	B	0.23540	0.087	B	0.33799	0.17	T	0.26643	-1.0097	10	0.41790	T	0.15	-12.1393	12.081	0.53671	1.0:0.0:0.0:0.0	.	186	Q8NGD1	OR4N2_HUMAN	R	186	ENSP00000319601:K186R	ENSP00000319601:K186R	K	+	2	0	OR4N2	19366004	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	1.333000	0.33816	2.008000	0.58898	0.477000	0.44152	AAG		0.532	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			G	20296164	A	G	20296164	3	3	592	1	0	0	0	0	1	0	0	0	11079	72	3	3	559	3	OR4N2	14	20296164	Missense_Mutation	SNP	A	TCGA-CZ-5460-01A-01D-1501-10		20296164	87053376	37	32355											
OSGEP	55644	broad.mit.edu;ucsc.edu	37	14	20916148	20916148	+	Silent	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr14:20916148A>G	ENST00000206542.4	-	8	1129	c.708T>C	c.(706-708)acT>acC	p.T236T	OSGEP_ENST00000554249.1_Silent_p.T54T|OSGEP_ENST00000555656.1_Silent_p.T37T	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase									p.T236T(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TTGCAAACACAGTTTCCTGTC	0.478																																																1	Substitution - coding silent(1)	kidney(1)											112	118	116					14																	20916148		2203	4300	6503	SO:0001819	synonymous_variant	55644			AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.708T>C	14.37:g.20916148A>G				Silent	SNP	ENST00000206542.4	37	CCDS9549.1																																																																																				0.478	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	NM_017807		G	20916148	A	G	20916148	2	3	592	1	0	0	0	0	0	0	0	1	11289	175	7	3		3	OSGEP	14	20916148	Silent	SNP	A	TCGA-CZ-5460-01A-01D-1501-10	619984	20916148	86433392	38	32356											
SERPINA10	51156	broad.mit.edu;ucsc.edu	37	14	94756558	94756560	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr14:94756558_94756560delTGA	ENST00000393096.1	-	2	836_838	c.371_373delTCA	c.(370-375)atcaag>aag	p.I124del	SERPINA10_ENST00000554723.1_In_Frame_Del_p.I164del|SERPINA10_ENST00000554173.1_In_Frame_Del_p.I124del|SERPINA10_ENST00000261994.4_In_Frame_Del_p.I124del	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	124					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGCCCTCTCTTGATCTGGGTTTC	0.591																																																0																																										SO:0001651	inframe_deletion	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.371_373delTCA	14.37:g.94756558_94756560delTGA	ENSP00000376809:p.Ile124del		A5Z2A5|Q6UWX9|Q86U20	In_Frame_Del	DEL	ENST00000393096.1	37	CCDS9923.1																																																																																				0.591	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		-	94756560	TGA	-	94756558	7	5	592	1	0	1	0	1	0	0	0	0	14093	1821	63	0	977	0	SERPINA10	14	94756558	In_Frame_Del	DEL	TGA	TCGA-CZ-5460-01A-01D-1501-10	73840410	94756558	12592982	39	32357											
SERPINA1	5265	broad.mit.edu;ucsc.edu	37	14	94844824	94844824	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr14:94844824G>C	ENST00000448921.1	-	7	1791	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	SERPINA1_ENST00000393087.4_Missense_Mutation_p.L407V|SERPINA1_ENST00000404814.4_Missense_Mutation_p.L407V|SERPINA1_ENST00000393088.4_Missense_Mutation_p.L407V|SERPINA1_ENST00000437397.1_Missense_Mutation_p.L407V|SERPINA1_ENST00000449399.3_Missense_Mutation_p.L407V|SERPINA1_ENST00000440909.1_Missense_Mutation_p.L407V|SERPINA1_ENST00000355814.4_Missense_Mutation_p.L407V	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	407					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L407V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCCATGAAGAGGGGAGACTTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											109	119	116					14																	94844824		2203	4300	6503	SO:0001583	missense	5265			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1219C>G	14.37:g.94844824G>C	ENSP00000416066:p.Leu407Val		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339125	0.41398	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399	D;D;D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	4.37	2.36	0.29203	Serpin domain (3);	0.116909	0.37348	N	0.002138	D	0.94679	0.8284	M	0.89478	3.035	0.46203	D	0.998925	D	0.57899	0.981	P	0.61275	0.886	D	0.94911	0.8065	10	0.87932	D	0	.	11.8867	0.52606	0.0:0.0:0.6867:0.3133	.	407	P01009	A1AT_HUMAN	V	407	ENSP00000390299:L407V;ENSP00000416066:L407V;ENSP00000408474:L407V;ENSP00000348068:L407V;ENSP00000376802:L407V;ENSP00000376803:L407V;ENSP00000385960:L407V;ENSP00000416354:L407V	ENSP00000348068:L407V	L	-	1	0	SERPINA1	93914577	1.000000	0.71417	0.813000	0.32504	0.002000	0.02628	3.385000	0.52485	1.006000	0.39211	0.563000	0.77884	CTC		0.498	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		C	94844824	G	C	94844824	3	2	592	1	0	0	0	0	1	0	0	0	14092	1000	35	4	41	4	SERPINA1	14	94844824	Missense_Mutation	SNP	G	TCGA-CZ-5460-01A-01D-1501-10	88266	94844824	12504716	40	32358											
DUOX1	53905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45434244	45434244	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr15:45434244G>A	ENST00000321429.4	+	16	2163	c.1756G>A	c.(1756-1758)Gac>Aac	p.D586N	DUOX1_ENST00000389037.3_Missense_Mutation_p.D586N|DUOX1_ENST00000561166.1_Missense_Mutation_p.D232N	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	586	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.D586N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGTTGTTCGTGACTATTTTGA	0.592																																																1	Substitution - Missense(1)	kidney(1)											147	132	137					15																	45434244		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1756G>A	15.37:g.45434244G>A	ENSP00000317997:p.Asp586Asn		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.955024	0.34471	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.89050	-2.46;-2.46	4.85	3.93	0.45458	.	0.242826	0.48767	N	0.000170	D	0.85592	0.5732	L	0.52126	1.63	0.48135	D	0.999597	B	0.22851	0.076	B	0.26614	0.071	D	0.83755	0.0211	10	0.66056	D	0.02	-31.1523	11.3628	0.49653	0.0893:0.0:0.9107:0.0	.	586	Q9NRD9	DUOX1_HUMAN	N	586	ENSP00000317997:D586N;ENSP00000373689:D586N	ENSP00000317997:D586N	D	+	1	0	DUOX1	43221536	0.998000	0.40836	0.941000	0.38009	0.239000	0.25481	2.890000	0.48609	1.399000	0.46721	-0.150000	0.13652	GAC		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		A	45434244	G	A	45434244	3	1	592	1	0	0	0	0	1	0	0	0	4802	1290	45	2	1810	2	DUOX1	15	45434244	Missense_Mutation	SNP	G	TCGA-CZ-5460-01A-01D-1501-10		45434244	57097148	41	32359											
PYGO1	26108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	55838992	55838992	+	Silent	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr15:55838992A>G	ENST00000302000.6	-	3	583	c.489T>C	c.(487-489)aaT>aaC	p.N163N	PYGO1_ENST00000563719.1_Silent_p.N163N	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	163	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N163N(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GACTTAGTGCATTATTATAAG	0.373																																																1	Substitution - coding silent(1)	kidney(1)											114	116	115					15																	55838992		2193	4292	6485	SO:0001819	synonymous_variant	26108			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.489T>C	15.37:g.55838992A>G			A7Y2D6	Silent	SNP	ENST00000302000.6	37	CCDS10155.1																																																																																				0.373	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		G	55838992	A	G	55838992	2	3	592	1	0	0	0	0	0	0	0	1	12869	214	8	3		3	PYGO1	15	55838992	Silent	SNP	A	TCGA-CZ-5460-01A-01D-1501-10	10404748	55838992	46692400	42	32360											
ARHGDIG	398	broad.mit.edu	37	16	332799	332799	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr16:332799delG	ENST00000219409.3	+	6	738	c.663delG	c.(661-663)cagfs	p.Q221fs	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	221					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCATCTGCCAGGACTGGAAGG	0.647											OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													29	27	28					16																	332799		2199	4297	6496	SO:0001589	frameshift_variant	398			U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"RhoGDI gamma"	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.663delG	16.37:g.332799delG	ENSP00000219409:p.Gln221fs	587	Q4TT69|Q96S29	Frame_Shift_Del	DEL	ENST00000219409.3	37	CCDS10404.1																																																																																				0.647	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1			-	332799	G	-	332799	7	5	592	1	0	1	0	1	0	0	0	0	892	991	35	0	685	0	ARHGDIG	16	332799	Frame_Shift_Del	DEL	G	TCGA-CZ-5460-01A-01D-1501-10		332799	90021954	43	32361											
ACSM2A	123876	broad.mit.edu	37	16	20486684	20486684	+	Splice_Site	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr16:20486684A>G	ENST00000573854.1	+	7	1009	c.895A>G	c.(895-897)Aca>Gca	p.T299A	ACSM2A_ENST00000219054.6_Splice_Site_p.T299A|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Splice_Site_p.T299A|ACSM2A_ENST00000536134.1_Splice_Site_p.T71A|ACSM2A_ENST00000396104.2_Splice_Site_p.T299A|ACSM2A_ENST00000417235.2_Splice_Site_p.T220A	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	299					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.T299A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGTCTTCCAGACACTCTCCAG	0.478																																																1	Substitution - Missense(1)	kidney(1)											85	71	76					16																	20486684		2202	4299	6501	SO:0001630	splice_region_variant	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.895-1A>G	16.37:g.20486684A>G			B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	A	9.092	1.001978	0.19121	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	3.36	1.12	0.20585	AMP-dependent synthetase/ligase (1);	0.719780	0.11977	N	0.511153	T	0.26521	0.0648	L	0.31371	0.925	0.21290	N	0.999734	B;B	0.13145	0.007;0.007	B;B	0.14023	0.01;0.01	T	0.20107	-1.0285	9	.	.	.	-3.9927	6.1666	0.20394	0.4131:0.0:0.5869:0.0	.	220;299	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	A	220;299;71;299	ENSP00000392169:T220A;ENSP00000219054:T299A;ENSP00000445082:T71A;ENSP00000379411:T299A	.	T	+	1	0	ACSM2A	20394185	0.993000	0.37304	0.904000	0.35570	0.013000	0.08279	1.804000	0.38873	0.601000	0.29879	0.248000	0.18094	ACA		0.478	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	Missense_Mutation	G	20486684	A	G	20486684	5	3	592	1	0	0	0	0	0	0	1	0	183	289	10	3	917	3	ACSM2A	16	20486684	Splice_Site	SNP	A	TCGA-CZ-5460-01A-01D-1501-10	20153885	20486684	69868069	44	32362											
PDPR	55066	broad.mit.edu	37	16	70180077	70180077	+	Silent	SNP	T	T	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr16:70180077T>C	ENST00000288050.4	+	16	2865	c.1908T>C	c.(1906-1908)tcT>tcC	p.S636S	PDPR_ENST00000542659.1_5'UTR|PDPR_ENST00000567046.1_5'UTR|PDPR_ENST00000568530.1_Silent_p.S636S|PDPR_ENST00000398122.3_Silent_p.S536S|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	636					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.S636S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ATGTGCTGTCTGAGTTGTCCT	0.473																																																1	Substitution - coding silent(1)	kidney(1)											104	105	105					16																	70180077		1865	4107	5972	SO:0001819	synonymous_variant	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1908T>C	16.37:g.70180077T>C			A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	CCDS45520.1																																																																																				0.473	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		C	70180077	T	C	70180077	2	2	592	1	0	0	0	0	0	0	0	1	11691	1567	55	3		3	PDPR	16	70180077	Silent	SNP	T	TCGA-CZ-5460-01A-01D-1501-10	49693393	70180077	20174676	45	32363											
NUDT7	283927	broad.mit.edu;ucsc.edu	37	16	77775489	77775489	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr16:77775489T>G	ENST00000268533.5	+	4	428	c.359T>G	c.(358-360)tTg>tGg	p.L120W	NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000563839.1_Nonstop_Mutation_p.*16G|NUDT7_ENST00000437314.3_Missense_Mutation_p.L67W|NUDT7_ENST00000564085.1_Missense_Mutation_p.I151M|RP11-264M12.2_ENST00000563690.1_RNA	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	120	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.L120W(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						ACAGATACATTGATAACTCCA	0.408																																																1	Substitution - Missense(1)	kidney(1)											59	56	57					16																	77775489		1876	4094	5970	SO:0001583	missense	283927			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"Nudix motif containing"	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.359T>G	16.37:g.77775489T>G	ENSP00000268533:p.Leu120Trp		B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	T	9.210	1.030806	0.19590	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.51071	0.72;0.72	5.29	1.61	0.23674	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.517985	0.19479	N	0.113259	T	0.51753	0.1693	M	0.79011	2.435	0.09310	N	1	B;P	0.35226	0.33;0.491	B;B	0.44163	0.091;0.443	T	0.44050	-0.9353	10	0.36615	T	0.2	-1.0638	7.2227	0.25997	0.0:0.0746:0.2719:0.6535	.	67;120	B4DLE5;P0C024	.;NUDT7_HUMAN	W	120;67	ENSP00000268533:L120W;ENSP00000387707:L67W	ENSP00000268533:L120W	L	+	2	0	NUDT7	76332990	0.985000	0.35326	0.002000	0.10522	0.052000	0.14988	2.774000	0.47694	0.287000	0.22375	0.533000	0.62120	TTG		0.408	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			G	77775489	T	G	77775489	3	3	592	1	0	0	0	0	1	0	0	0	10746	1821	63	5	373	5	NUDT7	16	77775489	Missense_Mutation	SNP	T	TCGA-CZ-5460-01A-01D-1501-10	7595412	77775489	12579264	46	32364											
SPDYE4	388333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8658873	8658873	+	Silent	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr17:8658873C>T	ENST00000328794.6	-	4	626	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	150								p.S150S(1)		breast(1)|endometrium(2)|kidney(1)	4						GGTATTGCCACGAGAAGAGGC	0.498																																																1	Substitution - coding silent(1)	kidney(1)											102	86	91					17																	8658873		692	1591	2283	SO:0001819	synonymous_variant	388333			BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"Speedy homologs"	35463	protein-coding gene	gene with protein product			"speedy homolog E4 (Xenopus laevis)"				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.450G>A	17.37:g.8658873C>T			B2RUZ6	Silent	SNP	ENST00000328794.6	37	CCDS45609.1																																																																																				0.498	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076		T	8658873	C	T	8658873	2	4	592	1	0	0	0	0	0	0	0	1	15036	523	19	1		1	SPDYE4	17	8658873	Silent	SNP	C	TCGA-CZ-5460-01A-01D-1501-10		8658873	72536337	47	32365											
ZNF287	57336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	16456102	16456102	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr17:16456102A>T	ENST00000395824.1	-	6	1971	c.1354T>A	c.(1354-1356)Tat>Aat	p.Y452N	ZNF287_ENST00000395825.3_Missense_Mutation_p.Y452N			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	445					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y445N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCACACTTATAGGGTTTCTCT	0.443																																																1	Substitution - Missense(1)	kidney(1)											118	106	110					17																	16456102		2203	4300	6503	SO:0001583	missense	57336			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1354T>A	17.37:g.16456102A>T	ENSP00000379168:p.Tyr452Asn		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569378	0.65765	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.25749	1.78;1.78	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000170	T	0.50616	0.1626	M	0.75447	2.3	0.40551	D	0.981118	D	0.89917	1.0	D	0.83275	0.996	T	0.55995	-0.8052	10	0.87932	D	0	.	13.3294	0.60477	1.0:0.0:0.0:0.0	.	445	Q9HBT7	ZN287_HUMAN	N	452	ENSP00000379169:Y452N;ENSP00000379168:Y452N	ENSP00000379168:Y452N	Y	-	1	0	ZNF287	16396827	0.313000	0.24554	1.000000	0.80357	0.769000	0.43574	3.539000	0.53604	2.317000	0.78254	0.459000	0.35465	TAT		0.443	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			T	16456102	A	T	16456102	3	4	592	1	0	0	0	0	1	0	0	0	17830	420	15	5	935	5	ZNF287	17	16456102	Missense_Mutation	SNP	A	TCGA-CZ-5460-01A-01D-1501-10	7797229	16456102	64739108	48	32366											
GDPD1	284161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57334552	57334552	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr17:57334552C>T	ENST00000284116.4	+	5	574	c.437C>T	c.(436-438)aCt>aTt	p.T146I	GDPD1_ENST00000581140.1_Missense_Mutation_p.T146I|GDPD1_ENST00000581276.1_Missense_Mutation_p.T146I	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	146	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.T146I(2)		endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TTTCCTAACACTCCCATTAAC	0.383																																																2	Substitution - Missense(2)	kidney(2)											154	137	143					17																	57334552		2203	4300	6503	SO:0001583	missense	284161			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.437C>T	17.37:g.57334552C>T	ENSP00000284116:p.Thr146Ile		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770835	0.49680	.	.	ENSG00000153982	ENST00000284116	T	0.10288	2.89	5.66	5.66	0.87406	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	L	0.28556	0.865	0.80722	D	1	B;B	0.19331	0.035;0.019	B;B	0.20955	0.032;0.028	T	0.13522	-1.0506	10	0.33141	T	0.24	.	18.7291	0.91728	0.0:1.0:0.0:0.0	.	146;146	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	I	146	ENSP00000284116:T146I	ENSP00000284116:T146I	T	+	2	0	GDPD1	54689334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.488000	0.60300	2.670000	0.90874	0.561000	0.74099	ACT		0.383	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1	NM_182569		T	57334552	C	T	57334552	3	4	592	1	0	0	0	0	1	0	0	0	6325	565	20	2	455	2	GDPD1	17	57334552	Missense_Mutation	SNP	C	TCGA-CZ-5460-01A-01D-1501-10	40878450	57334552	23860658	49	32367											
ZNF100	163227	broad.mit.edu;hgsc.bcm.edu	37	19	21909967	21909967	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr19:21909967delA	ENST00000358296.6	-	5	1345	c.1147delT	c.(1147-1149)tacfs	p.Y383fs	ZNF100_ENST00000305570.6_Frame_Shift_Del_p.Y319fs	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GAGAATCGGTAAAAAGCTTTG	0.403																																																0													52	57	56					19																	21909967		2188	4289	6477	SO:0001589	frameshift_variant	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1147delT	19.37:g.21909967delA	ENSP00000351042:p.Tyr383fs		Q7M4M0	Frame_Shift_Del	DEL	ENST00000358296.6	37	CCDS42538.1																																																																																				0.403	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		-	21909967	A	-	21909967	7	5	592	1	0	1	0	1	0	0	0	0	17718	362	13	0	485	0	ZNF100	19	21909967	Frame_Shift_Del	DEL	A	TCGA-CZ-5460-01A-01D-1501-10		21909967	37219016	50	32368											
LRFN1	57622	broad.mit.edu	37	19	39805558	39805558	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr19:39805558C>T	ENST00000248668.4	-	1	418	c.419G>A	c.(418-420)cGc>cAc	p.R140H	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	140						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R92H(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GATCAGGTGGCGGAGGTTGCC	0.687																																																1	Substitution - Missense(1)	kidney(1)											11	13	12					19																	39805558		1913	4096	6009	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.419G>A	19.37:g.39805558C>T	ENSP00000248668:p.Arg140His		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267661	0.23136	.	.	ENSG00000128011	ENST00000248668	T	0.54675	0.56	4.3	3.26	0.37387	.	0.000000	0.40640	N	0.001052	T	0.40694	0.1127	L	0.54908	1.71	0.53688	D	0.999979	B	0.32781	0.384	B	0.26094	0.066	T	0.17319	-1.0373	10	0.16896	T	0.51	.	9.6606	0.39952	0.0:0.8961:0.0:0.1039	.	140	Q9P244	LRFN1_HUMAN	H	140	ENSP00000248668:R140H	ENSP00000248668:R140H	R	-	2	0	LRFN1	44497398	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.163000	0.50763	1.018000	0.39521	0.455000	0.32223	CGC		0.687	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		T	39805558	C	T	39805558	3	4	592	1	0	0	0	0	1	0	0	0	8939	768	27	1	1904	1	LRFN1	19	39805558	Missense_Mutation	SNP	C	TCGA-CZ-5460-01A-01D-1501-10	17895591	39805558	19323425	51	32369											
B3GNT8	593	broad.mit.edu;ucsc.edu	37	19	41932579	41932579	+	IGR	SNP	G	G	A	rs199803357	byFrequency	TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr19:41932579G>A	ENST00000269980.2	+	0	2103				CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_Intron|B3GNT8_ENST00000321702.2_Silent_p.Y35Y	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.Y35Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GAGGGCTGGGGTAGGCCTTGC	0.667													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12577	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											33	34	34					19																	41932579		2203	4300	6503	SO:0001628	intergenic_variant	374907			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932579G>A			B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	CCDS12581.1																																																																																				0.667	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		A	41932579	G	A	41932579	1	1	592	0	1	0	0	0	0	0	0	0	1263	1256	44	2		2	B3GNT8	19	41932579	IGR	SNP	G	TCGA-CZ-5460-01A-01D-1501-10	2127021	41932579	17196404	52	32370											
NPAS1	4861	broad.mit.edu	37	19	47539293	47539293	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr19:47539293delG	ENST00000602212.1	+	6	814	c.594delG	c.(592-594)ctgfs	p.L198fs	NPAS1_ENST00000449844.2_Frame_Shift_Del_p.L198fs|NPAS1_ENST00000602189.1_Frame_Shift_Del_p.L22fs|NPAS1_ENST00000439365.2_Frame_Shift_Del_p.L22fs			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	198	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TGGAGCAACTGGGGCTGCGGA	0.652											OREG0025586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													18	17	17					19																	47539293		2202	4299	6501	SO:0001589	frameshift_variant	4861			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"Basic helix-loop-helix proteins"	7894	protein-coding gene	gene with protein product	"neuronal PAS1", "member of PAS superfamily 5"	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.594delG	19.37:g.47539293delG	ENSP00000469142:p.Leu198fs	947	B4DR69|Q99632|Q9BY83	Frame_Shift_Del	DEL	ENST00000602212.1	37	CCDS12694.1																																																																																				0.652	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	NM_002517		-	47539293	G	-	47539293	7	5	592	1	0	1	0	1	0	0	0	0	10564	1335	47	0	612	0	NPAS1	19	47539293	Frame_Shift_Del	DEL	G	TCGA-CZ-5460-01A-01D-1501-10	5606714	47539293	11589690	53	32371											
ZNF831	128611	broad.mit.edu	37	20	57766859	57766860	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr20:57766859_57766860delGG	ENST00000371030.2	+	1	785_786	c.785_786delGG	c.(784-786)aggfs	p.R262fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	262							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGGATGTGAGGACCGAAGCTG	0.663																																																0																																										SO:0001589	frameshift_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.785_786delGG	20.37:g.57766859_57766860delGG	ENSP00000360069:p.Arg262fs		Q5TDR4|Q8TCP0	Frame_Shift_Del	DEL	ENST00000371030.2	37	CCDS42894.1																																																																																				0.663	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		-	57766860	GG	-	57766859	7	5	592	1	0	1	0	1	0	0	0	0	18190	1000	35	0	787	0	ZNF831	20	57766859	Frame_Shift_Del	DEL	GG	TCGA-CZ-5460-01A-01D-1501-10		57766859	5258661	54	32372											
BRWD1	54014	broad.mit.edu;ucsc.edu	37	21	40568695	40568695	+	Silent	SNP	T	T	C			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chr21:40568695T>C	ENST00000333229.2	-	41	6627	c.6300A>G	c.(6298-6300)agA>agG	p.R2100R	BRWD1_ENST00000380800.3_Silent_p.R2100R|BRWD1_ENST00000342449.3_Silent_p.R2100R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2100					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R2100R(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGTCCTGAGTCTTCTGCCAT	0.428																																					Melanoma(170;988 1986 4794 16843 39731)											2	Substitution - coding silent(2)	kidney(2)											174	166	169					21																	40568695		2203	4299	6502	SO:0001819	synonymous_variant	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6300A>G	21.37:g.40568695T>C			C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	CCDS13662.1																																																																																				0.428	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		C	40568695	T	C	40568695	2	2	592	1	0	0	0	0	0	0	0	1	1527	1664	58	3		3	BRWD1	21	40568695	Silent	SNP	T	TCGA-CZ-5460-01A-01D-1501-10		40568695	7561200	55	32373											
MID1IP1	58526	broad.mit.edu	37	X	38664279	38664279	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chrX:38664279A>G	ENST00000336949.6	+	2	1025	c.80A>G	c.(79-81)aAc>aGc	p.N27S	MID1IP1_ENST00000378474.3_Missense_Mutation_p.N27S|MID1IP1_ENST00000457894.1_Missense_Mutation_p.N27S|MID1IP1-AS1_ENST00000436893.1_RNA	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	27					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.N27S(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						GCCGTGAACAACATGGACCAG	0.602																																																1	Substitution - Missense(1)	kidney(1)											109	73	85					X																	38664279		2202	4300	6502	SO:0001583	missense	58526				CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"gastrulation specific G12 homolog (zebrafish)"		"MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.80A>G	X.37:g.38664279A>G	ENSP00000338706:p.Asn27Ser		D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836528	0.71373	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	M	0.75777	2.31	0.58432	D	0.999998	D	0.52996	0.957	P	0.57324	0.818	T	0.75687	-0.3231	9	0.48119	T	0.1	-1.2826	12.9139	0.58195	1.0:0.0:0.0:0.0	.	27	Q9NPA3	M1IP1_HUMAN	S	27	.	ENSP00000338706:N27S	N	+	2	0	MID1IP1	38549223	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.564000	0.90726	1.698000	0.51180	0.430000	0.28490	AAC		0.602	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			G	38664279	A	G	38664279	3	3	592	1	0	0	0	0	1	0	0	0	9579	43	2	3	82	3	MID1IP1	23	38664279	Missense_Mutation	SNP	A	TCGA-CZ-5460-01A-01D-1501-10		38664279	116606281	56	32374											
MAGEA5	4104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151283746	151283746	+	RNA	SNP	G	G	T			TCGA-CZ-5460-01A-01D-1501-10	TCGA-CZ-5460-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a6de1551-2a1a-4a43-ba7f-caa436f5f6dd	ce595188-1b2d-46f1-b1d0-a44d2294d9a0	g.chrX:151283746G>T	ENST00000509345.2	-	0	590																		p.N89K(1)									CCTCTTCTTGGTTGCTGGAGC	0.557																																																1	Substitution - Missense(1)	kidney(1)											89	83	85					X																	151283746		2203	4300	6503			4104																															X.37:g.151283746G>T				Missense_Mutation	SNP	ENST00000509345.2	37																																																																																					0.557	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			T	151283746	G	T	151283746	1	4	592	0	1	0	0	0	0	0	0	0	9171	1252	44	4		4	MAGEA5	23	151283746	RNA	SNP	G	TCGA-CZ-5460-01A-01D-1501-10	112619467	151283746	3986814	57	32375											
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39893209	39893209	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr1:39893209A>T	ENST00000372915.3	+	61	16501	c.16414A>T	c.(16414-16416)Aca>Tca	p.T5472S	MACF1_ENST00000317713.7_Missense_Mutation_p.T3405S|MACF1_ENST00000567887.1_Missense_Mutation_p.T5504S|MACF1_ENST00000539005.1_Missense_Mutation_p.T3384S|MACF1_ENST00000289893.4_Missense_Mutation_p.T3907S|MACF1_ENST00000361689.2_Missense_Mutation_p.T3405S|MACF1_ENST00000545844.1_Missense_Mutation_p.T3405S|MACF1_ENST00000564288.1_Missense_Mutation_p.T5467S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5472					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.T3907S(1)|p.T3405S(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTATCTGTCACAGAGAAAAA	0.438																																																2	Substitution - Missense(2)	kidney(2)											111	116	114					1																	39893209		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16414A>T	1.37:g.39893209A>T	ENSP00000362006:p.Thr5472Ser		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.3|27.3	4.822227|4.822227	0.90873|0.90873	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.68943|0.68943	0.3056|0.3056	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.998;0.999;0.999	.|D;D;D	.|0.81914	.|0.995;0.977;0.977	T|T	0.71978|0.71978	-0.4429|-0.4429	5|10	.|0.59425	.|D	.|0.04	.|.	15.9609|15.9609	0.79930|0.79930	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|5472;3405;3349	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	L|S	2517|3405;5472;3405;3405;3384;3907;221	.|ENSP00000439537:T3405S;ENSP00000362006:T5472S;ENSP00000354573:T3405S;ENSP00000313438:T3405S;ENSP00000444364:T3384S;ENSP00000289893:T3907S;ENSP00000433104:T221S	.|ENSP00000289893:T3907S	H|T	+|+	2|1	0|0	MACF1|MACF1	39665796|39665796	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.339000|9.339000	0.96797|0.96797	2.174000|2.174000	0.68829|0.68829	0.455000|0.455000	0.32223|0.32223	CAC|ACA		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		T	39893209	A	T	39893209	3	4	593	1	0	0	0	0	1	0	0	0	9146	159	6	5	16590	5	MACF1	1	39893209	Missense_Mutation	SNP	A	TCGA-CZ-5461-01A-01D-1501-10		39893209	209357412	1	32376											
ABCA4	24	broad.mit.edu	37	1	94514511	94514511	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr1:94514511A>C	ENST00000370225.3	-	18	2742	c.2656T>G	c.(2656-2658)Tgt>Ggt	p.C886G	ABCA4_ENST00000535735.1_Missense_Mutation_p.C812G	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	886					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.C886G(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGGTTGAACACCCTGCACCA	0.532																																																1	Substitution - Missense(1)	kidney(1)											112	100	104					1																	94514511		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2656T>G	1.37:g.94514511A>C	ENSP00000359245:p.Cys886Gly		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.445872	0.43429	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.88431	-2.38;-2.38	5.35	5.35	0.76521	.	1.024840	0.07692	N	0.938959	D	0.85102	0.5620	N	0.19112	0.55	0.29481	N	0.856323	D;B	0.69078	0.997;0.001	D;B	0.78314	0.991;0.008	T	0.76160	-0.3061	10	0.21540	T	0.41	.	12.0127	0.53297	1.0:0.0:0.0:0.0	.	812;886	F5H6E5;P78363	.;ABCA4_HUMAN	G	886;812	ENSP00000359245:C886G;ENSP00000437682:C812G	ENSP00000359245:C886G	C	-	1	0	ABCA4	94287099	0.994000	0.37717	0.993000	0.49108	0.975000	0.68041	2.827000	0.48112	2.135000	0.66039	0.533000	0.62120	TGT		0.532	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		C	94514511	A	C	94514511	3	2	593	1	0	0	0	0	1	0	0	0	34	159	6	5	4297	5	ABCA4	1	94514511	Missense_Mutation	SNP	A	TCGA-CZ-5461-01A-01D-1501-10	54621302	94514511	154736110	2	32377											
CELSR2	1952	broad.mit.edu;hgsc.bcm.edu	37	1	109794802	109794802	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr1:109794802A>T	ENST00000271332.3	+	1	2162	c.2101A>T	c.(2101-2103)Aat>Tat	p.N701Y		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	701	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N701Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GATTGTGGTGAATGTCACCGA	0.567																																					NSCLC(158;1285 2011 34800 34852 42084)											1	Substitution - Missense(1)	kidney(1)											92	84	87					1																	109794802		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2101A>T	1.37:g.109794802A>T	ENSP00000271332:p.Asn701Tyr		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	18.18	3.567147	0.65651	.	.	ENSG00000143126	ENST00000271332	T	0.01767	4.65	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.05502	0.0145	M	0.75085	2.285	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.36311	-0.9753	9	0.41790	T	0.15	.	14.8253	0.70107	1.0:0.0:0.0:0.0	.	701	Q9HCU4	CELR2_HUMAN	Y	701	ENSP00000271332:N701Y	ENSP00000271332:N701Y	N	+	1	0	CELSR2	109596325	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	8.709000	0.91379	2.102000	0.63906	0.529000	0.55759	AAT		0.567	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		T	109794802	A	T	109794802	3	4	593	1	0	0	0	0	1	0	0	0	3224	246	9	5	2103	5	CELSR2	1	109794802	Missense_Mutation	SNP	A	TCGA-CZ-5461-01A-01D-1501-10	15280291	109794802	139455819	3	32378											
FMO5	2330	hgsc.bcm.edu;ucsc.edu	37	1	146656103	146656103	+	IGR	DEL	A	A	-			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr1:146656103delA	ENST00000254090.4	-	0	2632				FMO5_ENST00000441068.2_Frame_Shift_Del_p.C455fs|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					attccgggacaatttctcaga	0.353																																																0													107	94	98					1																	146656103		692	1591	2283	SO:0001628	intergenic_variant	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607		1.37:g.146656103delA			B2RBG1|C9JJD1|Q8IV22	Frame_Shift_Del	DEL	ENST00000254090.4	37	CCDS926.1																																																																																				0.353	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		-	146656103	A	-	146656103	6	5	593	0	1	1	0	1	0	0	0	0	5960	130	5	0		0	FMO5	1	146656103	IGR	DEL	A	TCGA-CZ-5461-01A-01D-1501-10	36861301	146656103	102594518	4	32379											
NPR1	4881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153659728	153659728	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr1:153659728C>T	ENST00000368680.3	+	13	2460	c.1988C>T	c.(1987-1989)tCa>tTa	p.S663L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	663	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.S663L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AACCTCAAGTCATCCAACTGC	0.542																																					Pancreas(141;1349 1870 15144 15830 40702)											1	Substitution - Missense(1)	kidney(1)											144	123	131					1																	153659728		2203	4300	6503	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1988C>T	1.37:g.153659728C>T	ENSP00000357669:p.Ser663Leu		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643496	0.87859	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62788	0.0	4.33	4.33	0.51752	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.77877	0.4196	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	T	0.82168	-0.0591	10	0.87932	D	0	.	14.7156	0.69265	0.0:1.0:0.0:0.0	.	142;663	B7Z4Y7;P16066	.;ANPRA_HUMAN	L	663;142	ENSP00000357669:S663L	ENSP00000357669:S663L	S	+	2	0	NPR1	151926352	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.550000	0.82173	2.404000	0.81709	0.455000	0.32223	TCA		0.542	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		T	153659728	C	T	153659728	3	4	593	1	0	0	0	0	1	0	0	0	10596	838	29	2	2038	2	NPR1	1	153659728	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	7003625	153659728	95590893	5	32380											
OTOF	9381	broad.mit.edu	37	2	26717855	26717855	+	Silent	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:26717855C>T	ENST00000272371.2	-	9	978	c.852G>A	c.(850-852)aaG>aaA	p.K284K	OTOF_ENST00000403946.3_Silent_p.K284K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	284	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.K284K(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGATGTGTACTTCTTGTCGT	0.587																																					GBM(102;732 1451 20652 24062 31372)											1	Substitution - coding silent(1)	kidney(1)											127	108	115					2																	26717855		2203	4300	6503	SO:0001819	synonymous_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.852G>A	2.37:g.26717855C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																				0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			T	26717855	C	T	26717855	2	4	593	1	0	0	0	0	0	0	0	1	11305	564	20	2		2	OTOF	2	26717855	Silent	SNP	C	TCGA-CZ-5461-01A-01D-1501-10		26717855	216481518	6	32381											
C2orf3	6936	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	75893178	75893178	+	Splice_Site	SNP	A	A	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:75893178A>G	ENST00000321027.3	-	16	2238	c.2105T>C	c.(2104-2106)gTa>gCa	p.V702A	GCFC2_ENST00000409857.3_Splice_Site_p.V664A|MRPL19_ENST00000409374.1_Intron|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	702					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.V702A(1)									ACATGCTGCTACCTGTTAATC	0.358																																																1	Substitution - Missense(1)	kidney(1)											90	93	92					2																	75893178		2203	4300	6503	SO:0001630	splice_region_variant	0			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.2104-1T>C	2.37:g.75893178A>G			A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695614	0.48202	.	.	ENSG00000005436	ENST00000321027;ENST00000409857;ENST00000427862	T;T;T	0.60040	1.86;1.85;0.22	5.04	5.04	0.67666	.	0.472038	0.24942	N	0.034377	T	0.52141	0.1716	M	0.64170	1.965	0.80722	D	1	B	0.29766	0.256	B	0.26310	0.068	T	0.50759	-0.8790	9	.	.	.	-7.3753	11.7362	0.51767	1.0:0.0:0.0:0.0	.	702	P16383	GCF_HUMAN	A	702;664;120	ENSP00000318690:V702A;ENSP00000386552:V664A;ENSP00000409340:V120A	.	V	-	2	0	C2orf3	75746686	1.000000	0.71417	0.989000	0.46669	0.805000	0.45488	5.467000	0.66737	2.199000	0.70637	0.528000	0.53228	GTA		0.358	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203	Missense_Mutation	G	75893178	A	G	75893178	5	3	593	1	0	0	0	0	0	0	1	0	2164	405	14	3	248	3	C2orf3	2	75893178	Splice_Site	SNP	A	TCGA-CZ-5461-01A-01D-1501-10	49175323	75893178	167306195	7	32382											
TTN	7273	hgsc.bcm.edu	37	2	179506014	179506016	+	In_Frame_Del	DEL	TTC	TTC	-	rs370597107	byFrequency	TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:179506014_179506016delTTC	ENST00000591111.1	-	170	35886_35888	c.35662_35664delGAA	c.(35662-35664)gaadel	p.E11888del	TTN_ENST00000342175.6_In_Frame_Del_p.E4656del|TTN_ENST00000359218.5_In_Frame_Del_p.E4589del|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.E4464del|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.E13529del|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E10961del			Q8WZ42	TITIN_HUMAN	titin	11888	Glu-rich.|Pro-rich.				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)			CTACTTTAGGTTCTTCTTCTTCA	0.291																																																0																																										SO:0001651	inframe_deletion	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35662_35664delGAA	2.37:g.179506023_179506025delTTC	ENSP00000465570:p.Glu11888del		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	In_Frame_Del	DEL	ENST00000591111.1	37																																																																																					0.291	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		-	179506016	TTC	-	179506014	7	5	593	1	0	1	0	1	0	0	0	0	16740	1722	60	0	67678	0	TTN	2	179506014	In_Frame_Del	DEL	TTC	TCGA-CZ-5461-01A-01D-1501-10	103612836	179506014	63693359	8	32383											
RUFY4	285180	hgsc.bcm.edu	37	2	218935328	218935328	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:218935328C>A	ENST00000344321.7	+	0	518				RUFY4_ENST00000441828.2_De_novo_Start_InFrame|RUFY4_ENST00000374155.3_De_novo_Start_InFrame	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4								metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCAAGTACCCATGGCAGAAG	0.532																																																0													81	80	81					2																	218935328		692	1591	2283			285180			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235		2.37:g.218935328C>A			Q6ZR96	RNA	SNP	ENST00000344321.7	37																																																																																					0.532	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		A	218935328	C	A	218935328	1	1	593	1	0	1	0	0	0	0	0	0	13747	609	21	4		4	RUFY4	2	218935328	De_novo_Start_InFrame	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	39429314	218935328	24264045	9	32384											
RQCD1	9125	hgsc.bcm.edu;ucsc.edu	37	2	219447710	219447710	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:219447710delA	ENST00000273064.6	+	3	596	c.221delA	c.(220-222)tatfs	p.Y74fs	RQCD1_ENST00000542068.1_Frame_Shift_Del_p.Y74fs|RQCD1_ENST00000295701.5_Frame_Shift_Del_p.Y74fs|RQCD1_ENST00000509807.2_Frame_Shift_Del_p.Y74fs	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	74					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAAATATTTATCCATCTATC	0.358																																																0													109	100	103					2																	219447710		2203	4300	6503	SO:0001589	frameshift_variant	9125			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"cancer/testis antigen 129"	612054	"rcd1 (required for cell differentiation, S.pombe) homolog 1"			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.221delA	2.37:g.219447710delA	ENSP00000273064:p.Tyr74fs		B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Frame_Shift_Del	DEL	ENST00000273064.6	37	CCDS33379.1																																																																																				0.358	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		-	219447710	A	-	219447710	7	5	593	1	0	1	0	1	0	0	0	0	13676	449	16	0	231	0	RQCD1	2	219447710	Frame_Shift_Del	DEL	A	TCGA-CZ-5461-01A-01D-1501-10	512382	219447710	23751663	10	32385	242	2									
RQCD1	9125	hgsc.bcm.edu	37	2	219447712	219447712	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:219447712C>T	ENST00000273064.6	+	3	598	c.223C>T	c.(223-225)Cca>Tca	p.P75S	RQCD1_ENST00000542068.1_Missense_Mutation_p.P75S|RQCD1_ENST00000295701.5_Missense_Mutation_p.P75S|RQCD1_ENST00000509807.2_Missense_Mutation_p.P75S	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	75					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAATATTTATCCATCTATCAA	0.348																																																0													113	103	106					2																	219447712		2203	4300	6503	SO:0001583	missense	9125			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"cancer/testis antigen 129"	612054	"rcd1 (required for cell differentiation, S.pombe) homolog 1"			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.223C>T	2.37:g.219447712C>T	ENSP00000273064:p.Pro75Ser		B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	37	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007691	0.75046	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701	T;T;T;T	0.49432	0.89;0.78;0.89;0.89	6.08	6.08	0.98989	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.83483	2.645	0.80722	D	1	B;B;P	0.49696	0.097;0.016;0.927	B;B;P	0.51016	0.219;0.07;0.656	T	0.67248	-0.5718	10	0.51188	T	0.08	-5.9433	20.6634	0.99662	0.0:1.0:0.0:0.0	.	75;75;75	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	S	75	ENSP00000273064:P75S;ENSP00000441357:P75S;ENSP00000443687:P75S;ENSP00000295701:P75S	ENSP00000273064:P75S	P	+	1	0	RQCD1	219155956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CCA		0.348	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		T	219447712	C	T	219447712	3	4	593	1	0	0	0	0	1	0	0	0	13676	855	30	2	233	2	RQCD1	2	219447712	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	2	219447712	23751661	11	32386	242	2									
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47144880	47144880	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr3:47144880G>A	ENST00000409792.3	-	7	4915	c.4873C>T	c.(4873-4875)Cgt>Tgt	p.R1625C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1625	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R1122C(1)|p.R1625C(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCATGAAACGAGAGCAATTT	0.348			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											165	153	157					3																	47144880		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4873C>T	3.37:g.47144880G>A	ENSP00000386759:p.Arg1625Cys		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006118	0.93287	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.86097	-2.07	5.83	5.83	0.93111	SET domain (3);	0.000000	0.53938	D	0.000046	D	0.96430	0.8835	H	0.99719	4.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98095	1.0411	10	0.87932	D	0	.	18.2989	0.90157	0.0:0.0:1.0:0.0	.	1625;1625	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	1625	ENSP00000386759:R1625C	ENSP00000386759:R1625C	R	-	1	0	SETD2	47119884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.400000	0.97290	2.775000	0.95449	0.650000	0.86243	CGT		0.348	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47144880	G	A	47144880	3	1	593	1	0	0	0	0	1	0	0	0	14137	1058	37	1	2881	1	SETD2	3	47144880	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10		47144880	150877550	12	32387											
CELSR3	1951	broad.mit.edu;ucsc.edu	37	3	48682160	48682160	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr3:48682160G>T	ENST00000164024.4	-	26	8354	c.8074C>A	c.(8074-8076)Ctg>Atg	p.L2692M	CELSR3_ENST00000544264.1_Missense_Mutation_p.L2697M|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2692					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L2692M(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTATGACCAGGACAACAGGG	0.617																																																1	Substitution - Missense(1)	kidney(1)											70	63	65					3																	48682160		2201	4299	6500	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8074C>A	3.37:g.48682160G>T	ENSP00000164024:p.Leu2692Met		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040111	0.55003	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.43688	0.94;0.94	5.45	2.4	0.29515	GPCR, family 2-like (1);	.	.	.	.	T	0.48502	0.1503	M	0.73430	2.235	0.09310	N	1	B;P	0.50369	0.425;0.934	B;P	0.52758	0.145;0.708	T	0.46162	-0.9211	9	0.59425	D	0.04	.	1.587	0.02646	0.1434:0.1966:0.3243:0.3356	.	2692;2789	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	2692;2697	ENSP00000164024:L2692M;ENSP00000445694:L2697M	ENSP00000164024:L2692M	L	-	1	2	CELSR3	48657164	0.972000	0.33761	0.188000	0.23233	0.957000	0.61999	0.607000	0.24209	1.278000	0.44430	0.561000	0.74099	CTG		0.617	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		T	48682160	G	T	48682160	3	4	593	1	0	0	0	0	1	0	0	0	3225	991	35	4	1904	4	CELSR3	3	48682160	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	1537280	48682160	149340270	13	32388											
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52712615	52712615	+	Splice_Site	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr3:52712615T>C	ENST00000296302.7	-	2	140		c.e2-2		PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CACGGCAATCTACACATTAGC	0.393			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Unknown(3)	kidney(3)											95	88	90					3																	52712615		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.139-2A>G	3.37:g.52712615T>C			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	16.72	3.201234	0.58234	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0658	0.71992	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52687655	1.000000	0.71417	0.977000	0.42913	0.679000	0.39708	7.403000	0.79983	1.968000	0.57251	0.377000	0.23210	.		0.393	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	C	52712615	T	C	52712615	5	2	593	1	0	0	0	0	0	0	1	0	11493	1536	53	3	4879	3	PBRM1	3	52712615	Splice_Site	SNP	T	TCGA-CZ-5461-01A-01D-1501-10	4030455	52712615	145309815	14	32389											
LXN	56925	broad.mit.edu	37	3	158390257	158390257	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr3:158390257G>A	ENST00000264265.3	-	1	225	c.11C>T	c.(10-12)cCg>cTg	p.P4L	GFM1_ENST00000486715.1_Intron|GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	4	Cystatin-like fold 1. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)	p.P4L(1)		breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTTGGTCGGCGGGATTTCCAT	0.617											OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											73	77	76					3																	158390257		2203	4300	6503	SO:0001583	missense	56925			AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.11C>T	3.37:g.158390257G>A	ENSP00000264265:p.Pro4Leu	1793	Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495439	0.44352	.	.	ENSG00000079257	ENST00000264265	T	0.23348	1.91	5.4	4.52	0.55395	.	0.478022	0.24063	N	0.041883	T	0.40067	0.1102	M	0.67953	2.075	0.45634	D	0.99856	D	0.65815	0.995	P	0.54312	0.748	T	0.21965	-1.0230	10	0.39692	T	0.17	-0.9341	13.1078	0.59257	0.0:0.0:0.7087:0.2913	.	4	Q9BS40	LXN_HUMAN	L	4	ENSP00000264265:P4L	ENSP00000264265:P4L	P	-	2	0	LXN	159872951	0.989000	0.36119	0.730000	0.30809	0.649000	0.38597	2.190000	0.42630	1.493000	0.48517	0.655000	0.94253	CCG		0.617	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1	NM_020169		A	158390257	G	A	158390257	3	1	593	1	0	0	0	0	1	0	0	0	9091	1116	39	1	681	1	LXN	3	158390257	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	105677642	158390257	39632173	15	32390											
MRPS18C	51023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	84379580	84379580	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr4:84379580C>A	ENST00000295491.4	+	3	345	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	MRPS18C_ENST00000507349.1_Intron|MRPS18C_ENST00000507019.1_Intron|HELQ_ENST00000510985.1_5'Flank|HELQ_ENST00000295488.3_5'Flank|HELQ_ENST00000440639.2_5'Flank	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	78					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.Q78K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TAAGAATGTACAGGTGAGATC	0.338																																																1	Substitution - Missense(1)	kidney(1)											112	119	117					4																	84379580		2202	4300	6502	SO:0001583	missense	51023				CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"Mitochondrial ribosomal proteins / small subunits"	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.232C>A	4.37:g.84379580C>A	ENSP00000295491:p.Gln78Lys			Missense_Mutation	SNP	ENST00000295491.4	37	CCDS3604.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953534	0.73902	.	.	ENSG00000163319	ENST00000295491;ENST00000505719	.	.	.	5.0	5.0	0.66597	Ribosomal protein S18, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	N	0.21142	0.635	0.80722	D	1	D	0.67145	0.996	P	0.61070	0.883	T	0.55075	-0.8197	9	0.21540	T	0.41	-10.8279	18.4792	0.90806	0.0:1.0:0.0:0.0	.	78	Q9Y3D5	RT18C_HUMAN	K	78;74	.	ENSP00000295491:Q78K	Q	+	1	0	MRPS18C	84598604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.490000	0.73645	2.615000	0.88500	0.591000	0.81541	CAG		0.338	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2			A	84379580	C	A	84379580	3	1	593	1	0	0	0	0	1	0	0	0	9832	479	17	4	242	4	MRPS18C	4	84379580	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10		84379580	106774696	16	32391											
EDIL3	10085	broad.mit.edu;ucsc.edu	37	5	83402565	83402565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr5:83402565C>A	ENST00000296591.5	-	6	971	c.553G>T	c.(553-555)Gga>Tga	p.G185*	EDIL3_ENST00000380138.3_Nonsense_Mutation_p.G175*	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	185	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.G185*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTTTGGAGTCCAAAAAGAGCT	0.448																																																1	Substitution - Nonsense(1)	kidney(1)											187	194	192					5																	83402565		2203	4300	6503	SO:0001587	stop_gained	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.553G>T	5.37:g.83402565C>A	ENSP00000296591:p.Gly185*		B2R763|O43855|Q5D094|Q8N610	Nonsense_Mutation	SNP	ENST00000296591.5	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	40	8.052625	0.98629	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	.	.	.	5.55	5.55	0.83447	.	0.050150	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9715	19.5157	0.95162	0.0:1.0:0.0:0.0	.	.	.	.	X	185;175	.	ENSP00000296591:G185X	G	-	1	0	EDIL3	83438321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.277000	0.78572	2.630000	0.89119	0.650000	0.86243	GGA		0.448	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		A	83402565	C	A	83402565	4	1	593	1	0	0	0	0	0	1	0	0	4917	603	21	4	913	4	EDIL3	5	83402565	Nonsense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10		83402565	97512695	17	32392											
MEGF10	84466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	126774247	126774247	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr5:126774247T>C	ENST00000274473.6	+	18	2488	c.2221T>C	c.(2221-2223)Tac>Cac	p.Y741H	MEGF10_ENST00000503335.2_Missense_Mutation_p.Y741H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	741	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.Y741H(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GACAGGGCTCTACTGCACTCA	0.562																																																1	Substitution - Missense(1)	kidney(1)											110	93	99					5																	126774247		2203	4300	6503	SO:0001583	missense	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2221T>C	5.37:g.126774247T>C	ENSP00000274473:p.Tyr741His		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.906325	0.52333	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.67698	-0.28;-0.28	6.17	6.17	0.99709	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	T	0.49932	0.1586	N	0.12422	0.21	0.80722	D	1	B	0.32731	0.382	B	0.33690	0.168	T	0.49916	-0.8888	10	0.15066	T	0.55	-37.3721	16.8222	0.85835	0.0:0.0:0.0:1.0	.	741	Q96KG7	MEG10_HUMAN	H	741	ENSP00000423354:Y741H;ENSP00000274473:Y741H	ENSP00000274473:Y741H	Y	+	1	0	MEGF10	126802146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.371000	0.80710	0.533000	0.62120	TAC		0.562	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		C	126774247	T	C	126774247	3	2	593	1	0	0	0	0	1	0	0	0	9462	1522	53	3	2283	3	MEGF10	5	126774247	Missense_Mutation	SNP	T	TCGA-CZ-5461-01A-01D-1501-10	43371682	126774247	54141013	18	32393											
COL21A1	81578	broad.mit.edu;hgsc.bcm.edu	37	6	55933843	55933843	+	Splice_Site	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr6:55933843C>A	ENST00000244728.5	-	22	2489		c.e22+1		COL21A1_ENST00000467045.1_Splice_Site|COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site|COL21A1_ENST00000370808.2_Splice_Site	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.?(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCAATGCATACCTTTTTTCCT	0.383																																																2	Unknown(2)	kidney(2)											81	82	82					6																	55933843		1843	4077	5920	SO:0001630	splice_region_variant	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2091+1G>T	6.37:g.55933843C>A			A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Splice_Site	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974716	0.53720	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3057	0.73990	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL21A1	56041802	1.000000	0.71417	0.997000	0.53966	0.737000	0.42083	4.790000	0.62453	1.988000	0.58038	0.557000	0.71058	.		0.383	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		Intron	A	55933843	C	A	55933843	5	1	593	1	0	0	0	0	0	0	1	0	3682	521	18	4	817	4	COL21A1	6	55933843	Splice_Site	SNP	C	TCGA-CZ-5461-01A-01D-1501-10		55933843	115181224	19	32394											
TTK	7272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	80744856	80744856	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr6:80744856A>C	ENST00000369798.2	+	15	1880	c.1769A>C	c.(1768-1770)gAt>gCt	p.D590A	TTK_ENST00000230510.3_Missense_Mutation_p.D589A|TTK_ENST00000509894.1_Missense_Mutation_p.D589A	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.D574A(1)|p.D590A(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CGACTTTATGATTAGTAAGAA	0.269																																																2	Substitution - Missense(2)	kidney(2)											56	59	58					6																	80744856		2180	4275	6455	SO:0001583	missense	7272				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1769A>C	6.37:g.80744856A>C	ENSP00000358813:p.Asp590Ala		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878832	0.51801	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.75704	-0.96;-0.96;-0.96	5.63	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.089402	0.85682	D	0.000000	T	0.73156	0.3551	L	0.53671	1.685	0.53688	D	0.999975	D;D	0.69078	0.997;0.997	D;D	0.65233	0.933;0.913	T	0.76683	-0.2869	10	0.72032	D	0.01	.	8.2594	0.31775	0.8307:0.0:0.1693:0.0	.	590;589	P33981;A8K8U5	TTK_HUMAN;.	A	589;589;590	ENSP00000422936:D589A;ENSP00000230510:D589A;ENSP00000358813:D590A	ENSP00000230510:D589A	D	+	2	0	TTK	80801575	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.967000	0.63722	0.983000	0.38602	0.451000	0.29950	GAT		0.269	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			C	80744856	A	C	80744856	3	2	593	1	0	0	0	0	1	0	0	0	16725	333	12	5	1823	5	TTK	6	80744856	Missense_Mutation	SNP	A	TCGA-CZ-5461-01A-01D-1501-10	24811013	80744856	90370211	20	32395											
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152565703	152565703	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr6:152565703T>C	ENST00000367255.5	-	106	20262	c.19661A>G	c.(19660-19662)cAg>cGg	p.Q6554R	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6483R|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1078R|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6166R|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6554R|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6483R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6554					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q6554R(2)|p.Q6483R(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATGGACGGCTGCTCGACCTG	0.453										HNSCC(10;0.0054)																																						3	Substitution - Missense(3)	kidney(3)											169	152	158					6																	152565703		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19661A>G	6.37:g.152565703T>C	ENSP00000356224:p.Gln6554Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644136	0.47258	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56611	0.54;0.53;0.45;0.53;0.66;2.56	5.76	4.58	0.56647	.	0.107046	0.41396	D	0.000889	T	0.56202	0.1969	M	0.71581	2.175	0.53688	D	0.999978	D;D;D	0.71674	0.998;0.998;0.992	D;D;D	0.65987	0.94;0.94;0.936	T	0.56547	-0.7961	10	0.22706	T	0.39	.	12.9355	0.58311	0.0:0.0:0.1355:0.8645	.	6554;6554;6483	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	R	6554;6483;6554;6483;6166;1078	ENSP00000356224:Q6554R;ENSP00000396024:Q6483R;ENSP00000265368:Q6554R;ENSP00000390975:Q6483R;ENSP00000341887:Q6166R;ENSP00000349276:Q1078R	ENSP00000265368:Q6554R	Q	-	2	0	SYNE1	152607396	0.995000	0.38212	0.856000	0.33681	0.902000	0.53008	2.139000	0.42149	0.980000	0.38523	0.482000	0.46254	CAG		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152565703	T	C	152565703	3	2	593	1	0	0	0	0	1	0	0	0	15450	1580	55	3	6969	3	SYNE1	6	152565703	Missense_Mutation	SNP	T	TCGA-CZ-5461-01A-01D-1501-10	71820847	152565703	18549364	21	32396											
TRIM50	135892	broad.mit.edu	37	7	72732707	72732707	+	Splice_Site	SNP	T	T	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr7:72732707T>A	ENST00000333149.2	-	5	928	c.728A>T	c.(727-729)aAg>aTg	p.K243M	TRIM50_ENST00000453152.1_Splice_Site_p.K243M	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	243						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K243M(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GGAGTGGAACTTCTGGAAGGC	0.602																																																2	Substitution - Missense(2)	kidney(2)											135	121	126					7																	72732707		2203	4298	6501	SO:0001630	splice_region_variant	135892			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19017	protein-coding gene	gene with protein product		612548	"tripartite motif-containing 50A", "tripartite motif-containing 50"	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.727-1A>T	7.37:g.72732707T>A			Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041110	0.55003	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.65916	-0.18;-0.18	3.2	3.2	0.36748	.	0.473238	0.18903	N	0.127966	T	0.48466	0.1501	N	0.19112	0.55	0.80722	D	1	P	0.50710	0.938	P	0.45946	0.498	T	0.52764	-0.8532	10	0.87932	D	0	.	8.1992	0.31415	0.0:0.0:0.0:1.0	.	243	Q86XT4	TRI50_HUMAN	M	243	ENSP00000327994:K243M;ENSP00000413875:K243M	ENSP00000327994:K243M	K	-	2	0	TRIM50	72370643	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	1.397000	0.34543	1.705000	0.51264	0.254000	0.18369	AAG		0.602	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125	Missense_Mutation	A	72732707	T	A	72732707	5	1	593	1	0	0	0	0	0	0	1	0	16531	1623	56	5	747	5	TRIM50	7	72732707	Splice_Site	SNP	T	TCGA-CZ-5461-01A-01D-1501-10		72732707	86405956	22	32397											
POMZP3	22932	broad.mit.edu	37	7	76247559	76247559	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr7:76247559G>T	ENST00000310842.4	-	4	970	c.286C>A	c.(286-288)Cca>Aca	p.P96T	UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.P96T	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	96								p.P96T(2)		kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGTGTATCTGGCCCGGGTCGA	0.488																																																2	Substitution - Missense(2)	kidney(2)											10	13	12					7																	76247559		2144	4167	6311	SO:0001583	missense	22932			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"POM-ZP3 fusion protein", "POM121/ZP3 fusion protein"	600587	"POM (POM121 rat homolog) and ZP3 fusion", "POM (POM121 homolog, rat) and ZP3 fusion"			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.286C>A	7.37:g.76247559G>T	ENSP00000309233:p.Pro96Thr		F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	37	CCDS43606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	7.656|7.656	0.683865|0.683865	0.14907|0.14907	.|.	.|.	ENSG00000146707|ENSG00000146707	ENST00000441393|ENST00000275569;ENST00000310842;ENST00000454397	.|T;T	.|0.81330	.|-1.48;-1.48	.|.	.|.	.|.	.|Zona pellucida sperm-binding protein (1);	.|0.308349	.|0.32314	.|U	.|0.006275	D|D	0.85191|0.85191	0.5640|0.5640	M|M	0.66506|0.66506	2.035|2.035	0.22961|0.22961	N|N	0.9985|0.9985	.|D	.|0.76494	.|0.999	.|D	.|0.72982	.|0.979	T|T	0.75054|0.75054	-0.3453|-0.3453	3|8	.|0.87932	.|D	.|0	.|.	.|.	.|.	.|.	.|.	.|96	.|Q6PJE2	.|POZP3_HUMAN	D|T	20|96;96;201	.|ENSP00000309233:P96T;ENSP00000405319:P201T	.|ENSP00000275569:P96T	A|P	-|-	2|1	0|0	POMZP3|POMZP3	76085495|76085495	0.983000|0.983000	0.35010|0.35010	0.499000|0.499000	0.27577|0.27577	0.461000|0.461000	0.32589|0.32589	0.677000|0.677000	0.25262|0.25262	0.392000|0.392000	0.25172|0.25172	0.391000|0.391000	0.25812|0.25812	GCC|CCA		0.488	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		T	76247559	G	T	76247559	3	4	593	1	0	0	0	0	1	0	0	0	12249	1203	42	4	296	4	POMZP3	7	76247559	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	3514852	76247559	82891104	23	32398											
SDR16C5	195814	broad.mit.edu;ucsc.edu	37	8	57228627	57228627	+	Missense_Mutation	SNP	C	C	G	rs371326324		TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:57228627C>G	ENST00000303749.3	-	2	917	c.280G>C	c.(280-282)Gcc>Ccc	p.A94P	SDR16C5_ENST00000396721.2_Missense_Mutation_p.A94P|SDR16C5_ENST00000522671.1_Missense_Mutation_p.A94P	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	94					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)	p.A94P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAGGTATAGGCGTGCACTCTT	0.468																																																1	Substitution - Missense(1)	kidney(1)											119	122	121					8																	57228627		2203	4300	6503	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.280G>C	8.37:g.57228627C>G	ENSP00000307607:p.Ala94Pro		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	9.469	1.095172	0.20471	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.88124	-2.34;-2.34;-2.34	5.14	1.86	0.25419	NAD(P)-binding domain (1);	0.462530	0.24833	N	0.035226	T	0.80210	0.4581	L	0.45352	1.415	0.33105	D	0.539745	B;B;B	0.28470	0.213;0.179;0.033	B;B;B	0.30646	0.111;0.118;0.088	T	0.77354	-0.2619	10	0.38643	T	0.18	.	7.5057	0.27542	0.1297:0.634:0.0:0.2364	.	94;94;94	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	P	94	ENSP00000379947:A94P;ENSP00000307607:A94P;ENSP00000431010:A94P	ENSP00000307607:A94P	A	-	1	0	SDR16C5	57391181	0.012000	0.17670	0.527000	0.27925	0.352000	0.29268	-0.202000	0.09451	0.574000	0.29417	0.563000	0.77884	GCC		0.468	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		G	57228627	C	G	57228627	3	3	593	1	0	0	0	0	1	0	0	0	13977	768	27	4	673	4	SDR16C5	8	57228627	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10		57228627	89135395	24	32399											
TP53INP1	94241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	95952145	95952145	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:95952145G>T	ENST00000342697.4	-	3	823	c.416C>A	c.(415-417)cCt>cAt	p.P139H	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.P139H|TP53INP1_ENST00000378776.4_Missense_Mutation_p.P139H	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	139					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.P139H(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					ACTGAGACCAGGGCAGGAGTT	0.483																																																1	Substitution - Missense(1)	kidney(1)											139	118	125					8																	95952145		2203	4300	6503	SO:0001583	missense	94241			AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.416C>A	8.37:g.95952145G>T	ENSP00000344215:p.Pro139His		B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590515	0.28357	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.40476	1.03;1.03;1.03	6.17	4.24	0.50183	.	0.162115	0.56097	D	0.000024	T	0.21631	0.0521	N	0.12182	0.205	0.26245	N	0.978814	B;B	0.11235	0.004;0.001	B;B	0.11329	0.006;0.006	T	0.10451	-1.0629	10	0.15066	T	0.55	-16.3286	9.3555	0.38164	0.0:0.1756:0.5856:0.2389	.	139;139	Q96A56-2;Q96A56	.;T53I1_HUMAN	H	139	ENSP00000390063:P139H;ENSP00000344215:P139H;ENSP00000368052:P139H	ENSP00000344215:P139H	P	-	2	0	TP53INP1	96021321	0.613000	0.27009	0.973000	0.42090	0.881000	0.50899	0.910000	0.28571	2.941000	0.99782	0.655000	0.94253	CCT		0.483	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			T	95952145	G	T	95952145	3	4	593	1	0	0	0	0	1	0	0	0	16393	1000	35	4	340	4	TP53INP1	8	95952145	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	38723518	95952145	50411877	25	32400											
C8orf37	157657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	96272706	96272706	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:96272706G>T	ENST00000286688.5	-	3	309	c.298C>A	c.(298-300)Ctt>Att	p.L100I		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	100						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L100I(1)		kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CTTTTACCAAGGCCTTCAATG	0.328																																																1	Substitution - Missense(1)	kidney(1)											119	109	112					8																	96272706		2203	4300	6503	SO:0001583	missense	157657			AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.298C>A	8.37:g.96272706G>T	ENSP00000286688:p.Leu100Ile			Missense_Mutation	SNP	ENST00000286688.5	37	CCDS6268.1	.	.	.	.	.	.	.	.	.	.	G	4.251	0.045642	0.08196	.	.	ENSG00000156172	ENST00000286688	D	0.82711	-1.64	5.71	2.82	0.32997	.	1.230950	0.05477	N	0.554070	T	0.78610	0.4310	M	0.68317	2.08	0.09310	N	1	B	0.30824	0.296	B	0.18561	0.022	T	0.56932	-0.7897	10	0.18710	T	0.47	-23.8706	7.3743	0.26818	0.1502:0.134:0.7158:0.0	.	100	Q96NL8	CH037_HUMAN	I	100	ENSP00000286688:L100I	ENSP00000286688:L100I	L	-	1	0	C8orf37	96341882	0.189000	0.23263	0.157000	0.22605	0.967000	0.64934	0.858000	0.27845	0.285000	0.22329	-0.355000	0.07637	CTT		0.328	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965		T	96272706	G	T	96272706	3	4	593	1	0	0	0	0	1	0	0	0	2425	1000	35	4	341	4	C8orf37	8	96272706	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	320561	96272706	50091316	26	32401											
FBXO43	286151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	101146397	101146398	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:101146397_101146398insT	ENST00000428847.2	-	4	2185_2186	c.1869_1870insA	c.(1867-1872)gaatatfs	p.Y624fs		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	624					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACCTTAACATATTCTTCCTGTT	0.342																																																0																																										SO:0001589	frameshift_variant	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1870dupA	8.37:g.101146399_101146399dupT	ENSP00000403293:p.Tyr624fs			Frame_Shift_Ins	INS	ENST00000428847.2	37	CCDS47904.1																																																																																				0.342	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		T	101146398	-	T	101146397	7	5	593	1	0	1	1	0	0	0	0	0	5754	449	16	0	264	0	FBXO43	8	101146397	Frame_Shift_Ins	INS	-	TCGA-CZ-5461-01A-01D-1501-10	4873691	101146397	45217625	27	32402											
TG	7038	broad.mit.edu;ucsc.edu	37	8	134107431	134107431	+	Silent	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:134107431C>A	ENST00000220616.4	+	42	7423	c.7383C>A	c.(7381-7383)gtC>gtA	p.V2461V	TG_ENST00000542445.1_Silent_p.V831V|TG_ENST00000377869.1_Silent_p.V2404V|TG_ENST00000519543.1_Silent_p.V594V|SLA_ENST00000518565.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000338087.5_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2461					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.V2461V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGCCAATGTCCTCAATGATG	0.517																																																1	Substitution - coding silent(1)	kidney(1)											158	134	142					8																	134107431		2203	4300	6503	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7383C>A	8.37:g.134107431C>A			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	1.885	-0.456827	0.04540	.	.	ENSG00000042832	ENST00000519178	.	.	.	6.07	4.22	0.49857	.	.	.	.	.	T	0.57814	0.2079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53344	-0.8452	4	.	.	.	.	7.664	0.28419	0.0:0.7462:0.1655:0.0883	.	.	.	.	T	917	.	.	P	+	1	0	TG	134176613	0.001000	0.12720	0.781000	0.31783	0.231000	0.25187	-0.408000	0.07169	0.828000	0.34709	0.655000	0.94253	CCT		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		A	134107431	C	A	134107431	2	1	593	1	0	0	0	0	0	0	0	1	15818	842	30	4		4	TG	8	134107431	Silent	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	32961034	134107431	12256591	28	32403											
PLEC	5339	broad.mit.edu;ucsc.edu	37	8	144991673	144991673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:144991673C>A	ENST00000322810.4	-	32	12896	c.12727G>T	c.(12727-12729)Gag>Tag	p.E4243*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.E4074*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E4129*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E4133*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E4110*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E4106*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E4084*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E4092*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E4106*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4243	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E4243*(1)|p.E4133*(1)|p.E4106*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATACAACGCTCCATCAGCTGC	0.597																																																3	Substitution - Nonsense(3)	kidney(3)											55	60	58					8																	144991673		2085	4216	6301	SO:0001587	stop_gained	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12727G>T	8.37:g.144991673C>A	ENSP00000323856:p.Glu4243*		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	54	22.160543	0.99946	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	5.14	4.26	0.50523	.	0.081026	0.46758	U	0.000274	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.4199	0.75003	0.0:0.8602:0.1398:0.0	.	.	.	.	X	4106;4110;4106;4074;4243;4084;4092;4133;4129	.	ENSP00000323856:E4243X	E	-	1	0	PLEC	145063661	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.796000	0.69080	1.373000	0.46208	0.549000	0.68633	GAG		0.597	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144991673	C	A	144991673	4	1	593	1	0	0	0	0	0	1	0	0	12054	864	30	4	1331	4	PLEC	8	144991673	Nonsense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	10884242	144991673	1372349	29	32404											
LPPR1	54886	hgsc.bcm.edu;ucsc.edu	37	9	104048510	104048510	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr9:104048510G>T	ENST00000374874.3	+	4	816	c.377G>T	c.(376-378)aGa>aTa	p.R126I	LPPR1_ENST00000395056.2_Missense_Mutation_p.R126I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		126					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										AGGATCATAAGATTCACAGGT	0.368																																																0													87	81	83					9																	104048510		2203	4300	6503	SO:0001583	missense	54886																														ENST00000374874.3:c.377G>T	9.37:g.104048510G>T	ENSP00000364008:p.Arg126Ile		Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083502	0.94050	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.55234	0.53;0.53	5.63	5.63	0.86233	.	0.052276	0.85682	D	0.000000	T	0.74816	0.3766	M	0.82823	2.61	0.80722	D	1	D;D	0.69078	0.997;0.99	D;P	0.65010	0.931;0.675	T	0.77900	-0.2415	10	0.87932	D	0	-28.6199	19.0377	0.92986	0.0:0.0:1.0:0.0	.	110;126	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	I	126	ENSP00000364008:R126I;ENSP00000378496:R126I	ENSP00000364005:R126I	R	+	2	0	RP11-35N6.1	103088331	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.153000	0.94687	2.798000	0.96311	0.655000	0.94253	AGA		0.368	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			T	104048510	G	T	104048510	3	4	593	1	0	0	0	0	1	0	0	0	8926	942	33	4	387	4	LPPR1	9	104048510	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10		104048510	37164921	30	32405											
SUV39H2	79723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	14941677	14941677	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:14941677A>G	ENST00000354919.6	+	4	989	c.989A>G	c.(988-990)aAt>aGt	p.N330S	SUV39H2_ENST00000313519.5_Missense_Mutation_p.N270S|SUV39H2_ENST00000378325.3_Missense_Mutation_p.N150S|DCLRE1C_ENST00000378289.4_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	330	S-adenosyl-L-methionine binding.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.N270S(1)|p.N330S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CATTTTGTGAATCACAGCGTA	0.373																																																2	Substitution - Missense(2)	kidney(2)											152	136	142					10																	14941677		2203	4300	6503	SO:0001583	missense	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.989A>G	10.37:g.14941677A>G	ENSP00000346997:p.Asn330Ser		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	CCDS53494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.7|27.7	4.857393|4.857393	0.91433|0.91433	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000358298|ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519	.|D;D;D;D	.|0.95137	.|-3.62;-3.62;-3.62;-3.62	5.73|5.73	5.73|5.73	0.89815|0.89815	.|SET domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98324|0.98324	0.9444|0.9444	H|H	0.97587|0.97587	4.035|4.035	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.99675|0.99675	1.0997|1.0997	5|10	.|0.87932	.|D	.|0	.|.	15.507|15.507	0.75748|0.75748	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|330;150	.|Q9H5I1;Q9H5I1-3	.|SUV92_HUMAN;.	V|S	96|90;150;330;270	.|ENSP00000388968:N90S;ENSP00000367576:N150S;ENSP00000346997:N330S;ENSP00000319208:N270S	.|ENSP00000319208:N270S	I|N	+|+	1|2	0|0	SUV39H2|SUV39H2	14981683|14981683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.287000|9.287000	0.95975|0.95975	2.313000|2.313000	0.78055|0.78055	0.455000|0.455000	0.32223|0.32223	ATC|AAT		0.373	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		G	14941677	A	G	14941677	3	3	593	1	0	0	0	0	1	0	0	0	15418	101	4	3	815	3	SUV39H2	10	14941677	Missense_Mutation	SNP	A	TCGA-CZ-5461-01A-01D-1501-10		14941677	120593070	31	32406											
ARHGAP21	57584	broad.mit.edu	37	10	25010766	25010766	+	Splice_Site	SNP	C	C	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:25010766C>G	ENST00000396432.2	-	2	549	c.63G>C	c.(61-63)gaG>gaC	p.E21D		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	20					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.E20D(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCGCGCTTACCTCGCAGGCCT	0.597																																																1	Substitution - Missense(1)	kidney(1)											51	42	45					10																	25010766		2203	4300	6503	SO:0001630	splice_region_variant	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.63+1G>C	10.37:g.25010766C>G			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279024	0.59758	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305	T;T;T;T	0.47177	2.84;0.88;0.89;0.85	4.02	3.1	0.35709	.	2.191020	0.01758	N	0.030365	T	0.40694	0.1127	L	0.36672	1.1	0.24455	N	0.994469	B;B;B	0.23249	0.082;0.038;0.02	B;B;B	0.18871	0.023;0.016;0.01	T	0.19745	-1.0296	9	.	.	.	.	8.0918	0.30805	0.0:0.8849:0.0:0.1151	.	21;20;20	F8W9U9;Q5T5U2;Q5T5U3	.;.;RHG21_HUMAN	D	21;20;21;21;10	ENSP00000379709:E21D;ENSP00000365592:E21D;ENSP00000405018:E21D;ENSP00000400566:E10D	.	E	-	3	2	ARHGAP21	25050772	1.000000	0.71417	0.078000	0.20375	0.767000	0.43475	3.081000	0.50120	1.018000	0.39521	0.563000	0.77884	GAG		0.597	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	Missense_Mutation	G	25010766	C	G	25010766	5	3	593	1	0	0	0	0	0	0	1	0	871	695	24	4	5913	4	ARHGAP21	10	25010766	Splice_Site	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	10069089	25010766	110523981	32	32407											
RAB18	22931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	27822869	27822869	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:27822869G>C	ENST00000356940.6	+	6	493	c.391G>C	c.(391-393)Gtc>Ctc	p.V131L	RAB18_ENST00000375802.3_Missense_Mutation_p.V86L|RAB18_ENST00000465772.1_Intron|RAB18_ENST00000535776.1_Missense_Mutation_p.V67L	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	131					brain development (GO:0007420)|endoplasmic reticulum tubular network organization (GO:0071786)|eye development (GO:0001654)|GTP catabolic process (GO:0006184)|lipid particle organization (GO:0034389)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V131L(1)		kidney(1)|large_intestine(1)|lung(1)	3						AAATCGTGAAGTCGATAGAAA	0.328																																																1	Substitution - Missense(1)	kidney(1)											169	170	170					10																	27822869		2203	4300	6503	SO:0001583	missense	22931			AJ277145	CCDS7155.1, CCDS58073.1, CCDS73080.1, CCDS73081.1	10p12	2011-03-07			ENSG00000099246	ENSG00000099246		"RAB, member RAS oncogene"	14244	protein-coding gene	gene with protein product		602207				10648831	Standard	NM_021252		Approved		uc001itw.4	Q9NP72	OTTHUMG00000017861	ENST00000356940.6:c.391G>C	10.37:g.27822869G>C	ENSP00000349415:p.Val131Leu		B3KMC7|B7Z333|D3DRW1|Q53FX8|Q56UN9|Q6FIH1	Missense_Mutation	SNP	ENST00000356940.6	37	CCDS7155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.169207|4.169207	0.78339|0.78339	.|.	.|.	ENSG00000099246|ENSG00000099246	ENST00000423465|ENST00000356940;ENST00000535776;ENST00000540268;ENST00000375802	.|D;D;D	.|0.82893	.|-1.66;-1.66;-1.66	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Small GTP-binding protein domain (1);	.|.	.|.	.|.	.|.	D|D	0.86623|0.86623	0.5977|0.5977	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.54397	.|0.966;0.208;0.382	.|B;B;B	.|0.41271	.|0.352;0.246;0.311	D|D	0.89775|0.89775	0.3957|0.3957	5|9	.|0.72032	.|D	.|0.01	.|.	18.7949|18.7949	0.91990|0.91990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|67;160;131	.|B7Z333;Q56UN9;Q9NP72	.|.;.;RAB18_HUMAN	T|L	243|131;67;109;86	.|ENSP00000349415:V131L;ENSP00000439321:V67L;ENSP00000364960:V86L	.|ENSP00000349415:V131L	S|V	+|+	2|1	0|0	RAB18|RAB18	27862875|27862875	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.967000|0.967000	0.64934|0.64934	5.040000|5.040000	0.64191|0.64191	2.672000|2.672000	0.90937|0.90937	0.650000|0.650000	0.86243|0.86243	AGT|GTC		0.328	RAB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047326.2	NM_021252		C	27822869	G	C	27822869	3	2	593	1	0	0	0	0	1	0	0	0	12909	1029	36	4	413	4	RAB18	10	27822869	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	2812103	27822869	107711878	33	32408											
ANUBL1	93550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	46121548	46121548	+	Missense_Mutation	SNP	C	C	T	rs149725835		TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:46121548C>T	ENST00000344646.5	-	7	1938	c.1723G>A	c.(1723-1725)Ggg>Agg	p.G575R	ZFAND4_ENST00000374366.3_Missense_Mutation_p.G501R|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	575							zinc ion binding (GO:0008270)	p.G575R(1)									CTTGTGCTCCCGGCCAGTGAG	0.473																																																1	Substitution - Missense(1)	kidney(1)						C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	98	98	98		1723,1723	3.9	1	10	dbSNP_134	98	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ANUBL1	NM_001128324.1,NM_174890.2	125,125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	575/728,575/728	46121548	2,13004	2203	4300	6503	SO:0001583	missense	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.1723G>A	10.37:g.46121548C>T	ENSP00000339484:p.Gly575Arg		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.900330	0.00517	0.0	2.33E-4	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.19250	2.16;2.16	5.73	3.88	0.44766	.	0.934347	0.08994	N	0.864059	T	0.05410	0.0143	N	0.00219	-1.825	0.22996	N	0.998459	B	0.02656	0.0	B	0.01281	0.0	T	0.13469	-1.0508	10	0.02654	T	1	-25.1306	14.711	0.69232	0.0:0.2762:0.7238:0.0	.	575	Q86XD8	ANUB1_HUMAN	R	575;501;457	ENSP00000339484:G575R;ENSP00000363486:G501R	ENSP00000339484:G575R	G	-	1	0	ANUBL1	45441554	1.000000	0.71417	0.997000	0.53966	0.123000	0.20343	2.519000	0.45546	0.777000	0.33496	-1.219000	0.01604	GGG		0.473	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		T	46121548	C	T	46121548	3	4	593	1	0	0	0	0	1	0	0	0	713	652	23	1	476	1	ANUBL1	10	46121548	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	18298679	46121548	89413199	34	32409											
FAM21A	387680	broad.mit.edu;hgsc.bcm.edu	37	10	51829431	51829431	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:51829431A>G	ENST00000282633.5	+	3	296	c.251A>G	c.(250-252)aAt>aGt	p.N84S	FAM21A_ENST00000351071.6_Missense_Mutation_p.N84S|FAM21A_ENST00000492914.1_3'UTR|RP11-324H6.5_ENST00000456967.1_RNA|FAM21A_ENST00000314664.7_Missense_Mutation_p.N84S	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	84					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.N84S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						AATGTCTTCAATGACTTCCTT	0.368																																																1	Substitution - Missense(1)	kidney(1)											182	185	184					10																	51829431		1855	4101	5956	SO:0001583	missense	387680			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"family with sequence similarity 21, member B"	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.251A>G	10.37:g.51829431A>G	ENSP00000282633:p.Asn84Ser		A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966661	0.74131	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633	.	.	.	3.73	3.73	0.42828	.	0.041308	0.85682	N	0.000000	T	0.76814	0.4040	M	0.82056	2.57	0.80722	D	1	D;D;D	0.63880	0.984;0.958;0.993	D;P;D	0.68943	0.938;0.832;0.961	T	0.79487	-0.1783	9	0.72032	D	0.01	-24.2684	10.681	0.45815	1.0:0.0:0.0:0.0	.	84;84;84	E7ESD2;Q641Q2-2;Q641Q2	.;.;FA21A_HUMAN	S	84;84;83;84	.	ENSP00000282633:N84S	N	+	2	0	FAM21A	51499437	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.275000	0.78548	1.460000	0.47911	0.163000	0.16589	AAT		0.368	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		G	51829431	A	G	51829431	3	3	593	1	0	0	0	0	1	0	0	0	5542	101	4	3	261	3	FAM21A	10	51829431	Missense_Mutation	SNP	A	TCGA-CZ-5461-01A-01D-1501-10	5707883	51829431	83705316	35	32410											
SGPL1	8879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	72631655	72631655	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:72631655T>C	ENST00000373202.3	+	11	1171	c.971T>C	c.(970-972)gTc>gCc	p.V324A		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	324					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.V324A(1)		large_intestine(4)	4						TTCCTCATCGTCTTTATGGAG	0.448																																					Colon(151;1054 2458 6676 40971)											1	Substitution - Missense(1)	kidney(1)											131	123	126					10																	72631655		2203	4300	6503	SO:0001583	missense	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.971T>C	10.37:g.72631655T>C	ENSP00000362298:p.Val324Ala		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.044360	0.36085	.	.	ENSG00000166224	ENST00000373202	T	0.38887	1.11	6.17	3.9	0.45041	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.157431	0.56097	D	0.000027	T	0.20901	0.0503	N	0.05230	-0.09	0.53688	D	0.999974	B	0.06786	0.001	B	0.14023	0.01	T	0.06752	-1.0809	10	0.23302	T	0.38	-22.2249	11.0497	0.47880	0.0:0.147:0.0:0.853	.	324	O95470	SGPL1_HUMAN	A	324	ENSP00000362298:V324A	ENSP00000362298:V324A	V	+	2	0	SGPL1	72301661	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	1.653000	0.37323	2.371000	0.80710	0.533000	0.62120	GTC		0.448	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		C	72631655	T	C	72631655	3	2	593	1	0	0	0	0	1	0	0	0	14224	1667	58	3	1009	3	SGPL1	10	72631655	Missense_Mutation	SNP	T	TCGA-CZ-5461-01A-01D-1501-10	20802224	72631655	62903092	36	32411											
VWCE	220001	broad.mit.edu;hgsc.bcm.edu	37	11	61048292	61048292	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr11:61048292C>G	ENST00000335613.5	-	8	1589	c.1203G>C	c.(1201-1203)gaG>gaC	p.E401D		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	401	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E401D(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACACCCAGGCTCTGTCCAGC	0.642																																																1	Substitution - Missense(1)	kidney(1)											20	21	20					11																	61048292		2203	4299	6502	SO:0001583	missense	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1203G>C	11.37:g.61048292C>G	ENSP00000334186:p.Glu401Asp		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635541	0.29068	.	.	ENSG00000167992	ENST00000335613	T	0.72394	-0.65	5.65	3.77	0.43336	von Willebrand factor, type C (3);	0.229144	0.30556	N	0.009375	T	0.44808	0.1311	N	0.12182	0.205	0.58432	D	0.999999	B	0.11235	0.004	B	0.14578	0.011	T	0.15665	-1.0429	10	0.10902	T	0.67	.	5.049	0.14499	0.0:0.6089:0.1573:0.2338	.	401	Q96DN2	VWCE_HUMAN	D	401	ENSP00000334186:E401D	ENSP00000334186:E401D	E	-	3	2	VWCE	60804868	0.494000	0.26043	0.648000	0.29521	0.908000	0.53690	0.464000	0.21988	0.743000	0.32719	0.655000	0.94253	GAG		0.642	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		G	61048292	C	G	61048292	3	3	593	1	0	0	0	0	1	0	0	0	17250	796	28	4	1716	4	VWCE	11	61048292	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10		61048292	73958224	37	32412											
DLG2	1740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	83544667	83544667	+	Missense_Mutation	SNP	T	T	A	rs201826892		TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr11:83544667T>A	ENST00000532653.1	-	12	1699	c.1397A>T	c.(1396-1398)cAg>cTg	p.Q466L	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.Q405L|DLG2_ENST00000543673.1_Missense_Mutation_p.Q571L|DLG2_ENST00000418306.2_Missense_Mutation_p.Q363L|DLG2_ENST00000537455.1_Missense_Mutation_p.Q220L|DLG2_ENST00000524982.1_Missense_Mutation_p.Q466L|DLG2_ENST00000280241.8_Missense_Mutation_p.Q505L|DLG2_ENST00000398301.2_Missense_Mutation_p.Q505L|DLG2_ENST00000376104.2_Missense_Mutation_p.Q571L|DLG2_ENST00000398309.2_Missense_Mutation_p.Q466L|DLG2_ENST00000531015.1_Missense_Mutation_p.Q433L			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	208	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.Q505L(1)|p.Q363L(1)|p.Q571L(1)|p.Q466L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CGATAGGATCTGGTCTCCTCT	0.433																																																4	Substitution - Missense(4)	kidney(4)											100	109	106					11																	83544667		2133	4262	6395	SO:0001583	missense	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1397A>T	11.37:g.83544667T>A	ENSP00000435849:p.Gln466Leu		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	T	15.23	2.771031	0.49680	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.25	4.13	0.48395	PDZ/DHR/GLGF (4);	0.092240	0.44902	D	0.000420	T	0.32971	0.0847	L	0.47078	1.49	0.80722	D	1	B;B;B;B;P;B;B;B	0.46020	0.013;0.015;0.034;0.008;0.871;0.036;0.059;0.008	B;B;B;B;P;B;B;B	0.47941	0.099;0.055;0.05;0.05;0.562;0.068;0.119;0.037	T	0.02526	-1.1146	9	.	.	.	.	10.6179	0.45462	0.0:0.0751:0.0:0.9249	.	433;466;466;405;505;571;466;363	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	L	466;571;363;571;505;405;220;466;466;571;433;505	ENSP00000381355:Q466L;ENSP00000365272:Q571L;ENSP00000402275:Q363L;ENSP00000441994:Q571L;ENSP00000280241:Q505L;ENSP00000381353:Q405L;ENSP00000443248:Q220L;ENSP00000432894:Q466L;ENSP00000435849:Q466L;ENSP00000433848:Q433L;ENSP00000381346:Q505L	.	Q	-	2	0	DLG2	83222315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.117000	0.50407	0.862000	0.35528	0.528000	0.53228	CAG		0.433	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		A	83544667	T	A	83544667	3	1	593	1	0	0	0	0	1	0	0	0	4557	1580	55	5	1313	5	DLG2	11	83544667	Missense_Mutation	SNP	T	TCGA-CZ-5461-01A-01D-1501-10	22496375	83544667	51461849	38	32413											
PHLDB1	23187	broad.mit.edu;hgsc.bcm.edu	37	11	118484605	118484605	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr11:118484605G>T	ENST00000361417.2	+	3	465	c.54G>T	c.(52-54)atG>atT	p.M18I	PHLDB1_ENST00000356063.5_Missense_Mutation_p.M18I	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	18								p.M18I(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCAGACCATGGTGCAGGTGA	0.547																																																1	Substitution - Missense(1)	kidney(1)											54	45	48					11																	118484605		2200	4295	6495	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.54G>T	11.37:g.118484605G>T	ENSP00000354498:p.Met18Ile		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501236	0.26861	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	T;T	0.26518	1.73;1.73	5.8	2.51	0.30379	.	0.587434	0.18626	N	0.135730	T	0.04724	0.0128	N	0.00385	-1.57	0.31005	N	0.71989	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36986	-0.9725	10	0.02654	T	1	-3.8511	5.1285	0.14897	0.1915:0.2528:0.5557:0.0	.	18;18;18	B4DIX4;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	I	18	ENSP00000354498:M18I;ENSP00000348359:M18I	ENSP00000348359:M18I	M	+	3	0	PHLDB1	117989815	0.988000	0.35896	0.986000	0.45419	0.470000	0.32858	0.510000	0.22723	1.420000	0.47138	0.655000	0.94253	ATG		0.547	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		T	118484605	G	T	118484605	3	4	593	1	0	0	0	0	1	0	0	0	11853	1348	47	4	56	4	PHLDB1	11	118484605	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	34939938	118484605	16521911	39	32414											
CDON	50937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	125891274	125891274	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr11:125891274T>A	ENST00000392693.3	-	3	345	c.218A>T	c.(217-219)gAa>gTa	p.E73V	CDON_ENST00000263577.7_Missense_Mutation_p.E73V	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	73	Ig-like C2-type 1.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E73V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CTTAACATGTTCCAGGTTTCC	0.453																																																1	Substitution - Missense(1)	kidney(1)											107	101	103					11																	125891274		2201	4299	6500	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.218A>T	11.37:g.125891274T>A	ENSP00000376458:p.Glu73Val		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304894	0.23736	.	.	ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967;ENST00000534818	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	5.66	4.54	0.55810	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.241657	0.28809	N	0.014064	T	0.25901	0.0631	M	0.67953	2.075	0.09310	N	1	D;P;P	0.55800	0.973;0.754;0.71	P;P;B	0.58391	0.838;0.483;0.351	T	0.12016	-1.0564	10	0.51188	T	0.08	-15.5141	5.6885	0.17817	0.0:0.1433:0.2618:0.5949	.	73;73;73	E9PRD8;Q4KMG0;Q4KMG0-2	.;CDON_HUMAN;.	V	73	ENSP00000376458:E73V;ENSP00000263577:E73V;ENSP00000434212:E73V;ENSP00000436940:E73V;ENSP00000437176:E73V	ENSP00000263577:E73V	E	-	2	0	CDON	125396484	0.545000	0.26449	0.081000	0.20488	0.058000	0.15608	0.716000	0.25836	0.986000	0.38683	0.460000	0.39030	GAA		0.453	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		A	125891274	T	A	125891274	3	1	593	1	0	0	0	0	1	0	0	0	3172	1783	62	5	3648	5	CDON	11	125891274	Missense_Mutation	SNP	T	TCGA-CZ-5461-01A-01D-1501-10	7406669	125891274	9115242	40	32415											
CACNA1C	775	broad.mit.edu	37	12	2794921	2794921	+	Missense_Mutation	SNP	G	G	A	rs200231105	byFrequency	TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr12:2794921G>A	ENST00000347598.4	+	46	5737	c.5737G>A	c.(5737-5739)Gaa>Aaa	p.E1913K	CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1885K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1871K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1890K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1882K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1873K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1893K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1900K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1936K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1900K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1936K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1873K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1884K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1906K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1865K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1948					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E1913K(2)|p.E1906K(2)|p.E1978K(2)|p.E1900K(2)|p.E1400K(2)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGGATGACGAAAATCGGCA	0.592																																																10	Substitution - Missense(10)	kidney(5)|endometrium(5)											47	48	48					12																	2794921		2013	4164	6177	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5737G>A	12.37:g.2794921G>A	ENSP00000266376:p.Glu1913Lys		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988512	0.53934	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	4.26	3.35	0.38373	.	1.675690	0.03914	N	0.282339	T	0.64427	0.2597	L	0.39633	1.23	0.24214	N	0.99546	P;D;P;B;D;P;P;D;B;B;D;P;P;B;P;B;P;B;D;P;P;D;D;P;P	0.76494	0.801;0.999;0.941;0.097;0.999;0.921;0.953;0.961;0.11;0.33;0.978;0.941;0.757;0.432;0.902;0.306;0.757;0.062;0.978;0.588;0.769;0.961;0.961;0.882;0.941	B;P;B;B;D;B;B;P;B;B;P;B;B;B;B;B;B;B;P;B;B;P;P;B;B	0.78314	0.21;0.858;0.304;0.03;0.991;0.308;0.378;0.485;0.04;0.071;0.485;0.304;0.122;0.099;0.114;0.033;0.122;0.024;0.485;0.172;0.172;0.485;0.485;0.172;0.304	T	0.56056	-0.8042	10	0.07030	T	0.85	.	14.0749	0.64885	0.0:0.1521:0.8479:0.0	.	556;1906;1862;1948;1900;1884;1865;1882;1893;1865;1885;1865;1896;1913;1865;1900;1936;1873;1871;1873;1854;1884;1884;1865;1865	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	1890;1865;1865;1893;1865;1884;1884;1873;1865;1913;1885;1865;1906;1882;1900;1871;1884;1865;1936;1900;1936;1873;1766	ENSP00000336982:E1890K;ENSP00000382563:E1865K;ENSP00000382552:E1865K;ENSP00000382547:E1893K;ENSP00000382506:E1865K;ENSP00000382530:E1884K;ENSP00000382546:E1884K;ENSP00000382500:E1873K;ENSP00000382549:E1865K;ENSP00000266376:E1913K;ENSP00000382515:E1885K;ENSP00000382510:E1865K;ENSP00000341092:E1906K;ENSP00000382537:E1882K;ENSP00000329877:E1900K;ENSP00000382557:E1871K;ENSP00000385724:E1884K;ENSP00000382512:E1865K;ENSP00000382542:E1936K;ENSP00000382526:E1900K;ENSP00000385896:E1936K;ENSP00000382504:E1873K	ENSP00000323129:E1766K	E	+	1	0	CACNA1C	2665182	1.000000	0.71417	0.943000	0.38184	0.802000	0.45316	5.486000	0.66856	0.981000	0.38548	0.449000	0.29647	GAA		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		A	2794921	G	A	2794921	3	1	593	1	0	0	0	0	1	0	0	0	2542	1059	37	1	6476	1	CACNA1C	12	2794921	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10		2794921	131056974	41	32416											
TAS2R8	50836	broad.mit.edu	37	12	10959049	10959049	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr12:10959049T>C	ENST00000240615.2	-	1	843	c.531A>G	c.(529-531)atA>atG	p.I177M		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	177					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.I177M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAAAGTATGGTATTTTACTCA	0.338																																																1	Substitution - Missense(1)	kidney(1)											154	137	143					12																	10959049		2203	4300	6503	SO:0001583	missense	50836			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.531A>G	12.37:g.10959049T>C	ENSP00000240615:p.Ile177Met		Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	t	7.491	0.650638	0.14516	.	.	ENSG00000121314	ENST00000240615	T	0.38560	1.13	4.92	-7.12	0.01537	GPCR, rhodopsin-like superfamily (1);	2.633900	0.02156	N	0.058372	T	0.22205	0.0535	N	0.12637	0.245	0.09310	N	1	B	0.09022	0.002	B	0.19148	0.024	T	0.19192	-1.0313	10	0.36615	T	0.2	.	6.3823	0.21542	0.2812:0.3206:0.0:0.3981	.	177	Q9NYW2	TA2R8_HUMAN	M	177	ENSP00000240615:I177M	ENSP00000240615:I177M	I	-	3	3	TAS2R8	10850316	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.278000	0.08490	-0.686000	0.05170	-1.723000	0.00705	ATA		0.338	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			C	10959049	T	C	10959049	3	2	593	1	0	0	0	0	1	0	0	0	15592	1628	57	3	401	3	TAS2R8	12	10959049	Missense_Mutation	SNP	T	TCGA-CZ-5461-01A-01D-1501-10	8164128	10959049	122892846	42	32417											
HDAC7	51564	broad.mit.edu;ucsc.edu	37	12	48185052	48185052	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr12:48185052C>G	ENST00000427332.2	-	16	2012	c.1856G>C	c.(1855-1857)gGt>gCt	p.G619A	HDAC7_ENST00000552960.1_Missense_Mutation_p.G641A|HDAC7_ENST00000080059.7_Missense_Mutation_p.G658A|HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000380610.4_Missense_Mutation_p.G675A|HDAC7_ENST00000354334.3_Missense_Mutation_p.G621A			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	619	Histone deacetylase.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.G619A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCCAACCCCACCACAGGGCAG	0.652																																																1	Substitution - Missense(1)	kidney(1)											56	54	54					12																	48185052		2190	4291	6481	SO:0001583	missense	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1856G>C	12.37:g.48185052C>G	ENSP00000404394:p.Gly619Ala		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.810543|4.810543	0.90707|0.90707	.|.	.|.	ENSG00000061273|ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332|ENST00000548080	T;T;T;T;T|.	0.58940|.	0.33;0.3;0.34;0.32;0.35|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82332|0.82332	0.5014|0.5014	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	B;P;D|.	0.67145|.	0.307;0.953;0.996|.	B;D;P|.	0.66847|.	0.3;0.947;0.865|.	D|D	0.84343|0.84343	0.0528|0.0528	10|5	0.56958|.	D|.	0.05|.	.|.	17.5879|17.5879	0.87987|0.87987	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	658;641;621|.	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7|.	.;.;.|.	A|L	658;621;641;675;619|99	ENSP00000080059:G658A;ENSP00000351326:G621A;ENSP00000448532:G641A;ENSP00000369984:G675A;ENSP00000404394:G619A|.	ENSP00000080059:G658A|.	G|V	-|-	2|1	0|0	HDAC7|HDAC7	46471319|46471319	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	7.578000|7.578000	0.82498|0.82498	2.560000|2.560000	0.86352|0.86352	0.558000|0.558000	0.71614|0.71614	GGT|GTG		0.652	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			G	48185052	C	G	48185052	3	3	593	1	0	0	0	0	1	0	0	0	7014	507	18	4	1046	4	HDAC7	12	48185052	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	37226003	48185052	85666843	43	32418											
IKZF4	64375	hgsc.bcm.edu;ucsc.edu	37	12	56428493	56428493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr12:56428493delA	ENST00000262032.5	+	12	1503	c.1136delA	c.(1135-1137)gagfs	p.E379fs	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Del_p.E277fs|IKZF4_ENST00000547167.1_Frame_Shift_Del_p.E379fs|IKZF4_ENST00000547791.1_Frame_Shift_Del_p.E334fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	379					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTGGGTGCAGAGCATCTGCGT	0.567																																																0													118	120	119					12																	56428493		2070	4216	6286	SO:0001589	frameshift_variant	64375			AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13179	protein-coding gene	gene with protein product		606239	"zinc finger protein, subfamily 1A, 4 (Eos)"	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1136delA	12.37:g.56428493delA	ENSP00000262032:p.Glu379fs		Q96JP3	Frame_Shift_Del	DEL	ENST00000262032.5	37	CCDS44917.1																																																																																				0.567	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		-	56428493	A	-	56428493	7	5	593	1	0	1	0	1	0	0	0	0	7619	304	11	0	1166	0	IKZF4	12	56428493	Frame_Shift_Del	DEL	A	TCGA-CZ-5461-01A-01D-1501-10	8243441	56428493	77423402	44	32419											
PIWIL1	9271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	130847573	130847573	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr12:130847573G>A	ENST00000245255.3	+	18	2351	c.2079G>A	c.(2077-2079)atG>atA	p.M693I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	693	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.M693I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATGAGTACATGCCCAGCCGGA	0.498																																																1	Substitution - Missense(1)	kidney(1)											112	110	111					12																	130847573		2203	4300	6503	SO:0001583	missense	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2079G>A	12.37:g.130847573G>A	ENSP00000245255:p.Met693Ile		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127571	0.56721	.	.	ENSG00000125207	ENST00000245255	T	0.29397	1.57	5.49	5.49	0.81192	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.050697	0.85682	D	0.000000	T	0.24586	0.0596	L	0.31065	0.9	0.41839	D	0.990113	B;B	0.22746	0.074;0.027	B;B	0.23852	0.049;0.026	T	0.05305	-1.0893	10	0.66056	D	0.02	0.4585	11.7856	0.52041	0.0801:0.0:0.9199:0.0	.	693;693	Q96J94;Q96J94-2	PIWL1_HUMAN;.	I	693	ENSP00000245255:M693I	ENSP00000245255:M693I	M	+	3	0	PIWIL1	129413526	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.537000	0.60643	2.578000	0.87016	0.467000	0.42956	ATG		0.498	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			A	130847573	G	A	130847573	3	1	593	1	0	0	0	0	1	0	0	0	11959	1319	46	2	2145	2	PIWIL1	12	130847573	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	74419080	130847573	3004322	45	32420											
CSNK1A1L	122011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	37679100	37679100	+	Silent	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr13:37679100T>C	ENST00000379800.3	-	1	703	c.294A>G	c.(292-294)gaA>gaG	p.E98E		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E98E(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TAAAGAGGTCTTCGAGGCTGG	0.448																																																1	Substitution - coding silent(1)	kidney(1)											110	106	107					13																	37679100		2203	4300	6503	SO:0001819	synonymous_variant	122011			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.294A>G	13.37:g.37679100T>C			Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																				0.448	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		C	37679100	T	C	37679100	2	2	593	1	0	0	0	0	0	0	0	1	3953	1606	56	3		3	CSNK1A1L	13	37679100	Silent	SNP	T	TCGA-CZ-5461-01A-01D-1501-10		37679100	77490778	46	32421											
LIG4	3981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	108861063	108861063	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr13:108861063C>T	ENST00000356922.4	-	2	2826	c.2554G>A	c.(2554-2556)Gta>Ata	p.V852I	LIG4_ENST00000442234.1_Missense_Mutation_p.V852I|LIG4_ENST00000405925.1_Missense_Mutation_p.V852I	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	852	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.V852I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAAGAAACTACTTTTGCTCCA	0.373								Non-homologous end-joining																																								1	Substitution - Missense(1)	kidney(1)											100	99	99					13																	108861063		2203	4300	6503	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2554G>A	13.37:g.108861063C>T	ENSP00000349393:p.Val852Ile		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430978	0.25726	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.83250	-1.7;-1.7;-1.7	5.75	3.09	0.35607	BRCT (4);	0.192662	0.44688	N	0.000427	T	0.75287	0.3829	M	0.62723	1.935	0.37052	D	0.897627	B	0.21688	0.059	B	0.17979	0.02	T	0.64715	-0.6342	10	0.16896	T	0.51	.	5.837	0.18613	0.2721:0.5856:0.0:0.1422	.	852	P49917	DNLI4_HUMAN	I	852	ENSP00000385955:V852I;ENSP00000402030:V852I;ENSP00000349393:V852I	ENSP00000349393:V852I	V	-	1	0	LIG4	107659064	0.955000	0.32602	0.059000	0.19551	0.767000	0.43475	2.187000	0.42602	0.364000	0.24374	0.567000	0.79289	GTA		0.373	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		T	108861063	C	T	108861063	3	4	593	1	0	0	0	0	1	0	0	0	8785	565	20	2	185	2	LIG4	13	108861063	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	71181963	108861063	6308815	47	32422											
RTL1	388015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	101350371	101350371	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr14:101350371C>T	ENST00000534062.1	-	1	813	c.755G>A	c.(754-756)tGg>tAg	p.W252*	MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	252					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.W252*(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGCTTTGGCCCATTCTAATGC	0.532																																																1	Substitution - Nonsense(1)	kidney(1)											109	94	98					14																	101350371		692	1591	2283	SO:0001587	stop_gained	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.755G>A	14.37:g.101350371C>T	ENSP00000435342:p.Trp252*		E9PKS8	Nonsense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	36	5.652866	0.96724	.	.	ENSG00000254656	ENST00000534062	.	.	.	3.41	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1232	0.59338	0.0:1.0:0.0:0.0	.	.	.	.	X	252	.	ENSP00000435342:W252X	W	-	2	0	RTL1	100420124	1.000000	0.71417	0.990000	0.47175	0.855000	0.48748	4.412000	0.59787	2.210000	0.71456	0.555000	0.69702	TGG		0.532	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		T	101350371	C	T	101350371	4	4	593	1	0	0	0	0	0	1	0	0	13730	595	21	2	3325	2	RTL1	14	101350371	Nonsense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10		101350371	5999169	48	32423											
DYNC1H1	1778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	102452696	102452696	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr14:102452696G>A	ENST00000360184.4	+	8	2298	c.2134G>A	c.(2134-2136)Ggt>Agt	p.G712S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	712	Interaction with DYNC1LI2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.G712S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCGCAACCTCGGTGTCTCGGG	0.527																																																1	Substitution - Missense(1)	kidney(1)											72	58	63					14																	102452696		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2134G>A	14.37:g.102452696G>A	ENSP00000348965:p.Gly712Ser		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	9.119	1.008517	0.19199	.	.	ENSG00000197102	ENST00000360184	T	0.52983	0.64	5.71	5.71	0.89125	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.31544	0.0800	N	0.16201	0.385	0.80722	D	1	B	0.23249	0.082	B	0.23852	0.049	T	0.20907	-1.0261	10	0.02654	T	1	.	19.8442	0.96702	0.0:0.0:1.0:0.0	.	712	Q14204	DYHC1_HUMAN	S	712	ENSP00000348965:G712S	ENSP00000348965:G712S	G	+	1	0	DYNC1H1	101522449	1.000000	0.71417	0.963000	0.40424	0.959000	0.62525	9.471000	0.97696	2.696000	0.92011	0.655000	0.94253	GGT		0.527	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		A	102452696	G	A	102452696	3	1	593	1	0	0	0	0	1	0	0	0	4843	1116	39	1	2164	1	DYNC1H1	14	102452696	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	1102325	102452696	4896844	49	32424											
TMOD2	29767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52098676	52098676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr15:52098676C>T	ENST00000249700.4	+	9	1200	c.979C>T	c.(979-981)Cga>Tga	p.R327*	TMOD2_ENST00000539962.2_Nonsense_Mutation_p.R283*|TMOD2_ENST00000435126.2_Nonsense_Mutation_p.R291*	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	327					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.R327*(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GCAAGGGCCACGAACAAGGGT	0.453																																																2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)											99	90	93					15																	52098676		2195	4293	6488	SO:0001587	stop_gained	29767			AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.979C>T	15.37:g.52098676C>T	ENSP00000249700:p.Arg327*		B4DEW6	Nonsense_Mutation	SNP	ENST00000249700.4	37	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	C	37	6.075348	0.97262	.	.	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	.	.	.	5.34	2.1	0.27182	.	0.133842	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9906	10.0469	0.42192	0.4153:0.4883:0.0963:0.0	.	.	.	.	X	291;327;283	.	ENSP00000249700:R327X	R	+	1	2	TMOD2	49885968	0.997000	0.39634	0.997000	0.53966	0.999000	0.98932	1.240000	0.32731	0.758000	0.33059	0.655000	0.94253	CGA		0.453	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			T	52098676	C	T	52098676	4	4	593	1	0	0	0	0	0	1	0	0	16239	528	19	1	1009	1	TMOD2	15	52098676	Nonsense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10		52098676	50432716	50	32425											
NTRK3	4916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	88423631	88423631	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr15:88423631C>T	ENST00000360948.2	-	18	2365	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	NTRK3_ENST00000557856.1_Missense_Mutation_p.R713H|NTRK3_ENST00000355254.2_Missense_Mutation_p.R721H|NTRK3_ENST00000394480.2_Missense_Mutation_p.R721H|NTRK3_ENST00000357724.2_Missense_Mutation_p.R727H	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> F (in a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions).		activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R721H(2)|p.R735H(1)|p.R721F(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGCATCCAGCGAATGGGGAG	0.507			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	4	Substitution - Missense(4)	lung(2)|kidney(2)											97	80	85					15																	88423631		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2204G>A	15.37:g.88423631C>T	ENSP00000354207:p.Arg735His		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177803	0.94846	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.92789	0.6247	10	0.87932	D	0	.	17.9204	0.88964	0.0:1.0:0.0:0.0	.	713;721;735	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	H	721;735;727;721	ENSP00000377990:R721H;ENSP00000354207:R735H;ENSP00000350356:R727H;ENSP00000347397:R721H	ENSP00000347397:R721H	R	-	2	0	NTRK3	86224635	1.000000	0.71417	0.969000	0.41365	0.916000	0.54674	7.514000	0.81750	2.562000	0.86427	0.655000	0.94253	CGC		0.507	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				T	88423631	C	T	88423631	3	4	593	1	0	0	0	0	1	0	0	0	10710	768	27	1	323	1	NTRK3	15	88423631	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	36324955	88423631	14107761	51	32426											
PGPEP1L	145814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	99512702	99512702	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr15:99512702C>T	ENST00000378919.6	-	4	528	c.323G>A	c.(322-324)cGc>cAc	p.R108H	PGPEP1L_ENST00000535714.1_Missense_Mutation_p.R54H|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	108							cysteine-type peptidase activity (GO:0008234)	p.R108H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CACAGCTACGCGCTTGCAGAC	0.622																																																1	Substitution - Missense(1)	kidney(1)											132	137	135					15																	99512702		2194	4296	6490	SO:0001583	missense	145814				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.323G>A	15.37:g.99512702C>T	ENSP00000368199:p.Arg108His		H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	C	9.925	1.213200	0.22289	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.43294	0.95	4.48	-1.14	0.09741	.	1.245880	0.05663	N	0.587343	T	0.33498	0.0865	L	0.47016	1.485	0.09310	N	1	B	0.23316	0.083	B	0.21151	0.033	T	0.27262	-1.0079	10	0.41790	T	0.15	-19.663	4.9214	0.13871	0.1435:0.3433:0.0:0.5132	.	108	A6NFU8	PGPIL_HUMAN	H	108;101	ENSP00000368199:R108H	ENSP00000368199:R108H	R	-	2	0	PGPEP1L	97330225	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.129000	0.03244	-0.310000	0.08766	-0.797000	0.03246	CGC		0.622	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		T	99512702	C	T	99512702	3	4	593	1	0	0	0	0	1	0	0	0	11806	768	27	1	275	1	PGPEP1L	15	99512702	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	11089071	99512702	3018690	52	32427											
ACSM5	54988	broad.mit.edu;hgsc.bcm.edu	37	16	20451155	20451155	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr16:20451155T>C	ENST00000331849.4	+	13	1717	c.1570T>C	c.(1570-1572)Tac>Cac	p.Y524H	CTD-2194A8.2_ENST00000574654.1_RNA|CTD-2194A8.2_ENST00000575772.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	524					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.Y524H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TACTCCAGCCTACTCCTCTCA	0.463																																																1	Substitution - Missense(1)	kidney(1)											106	99	102					16																	20451155		2203	4299	6502	SO:0001583	missense	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1570T>C	16.37:g.20451155T>C	ENSP00000327916:p.Tyr524His		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330853	0.60853	.	.	ENSG00000183549	ENST00000331849	T	0.49139	0.79	5.01	5.01	0.66863	.	0.118041	0.37483	N	0.002063	T	0.51261	0.1664	N	0.16602	0.42	0.09310	N	1	D	0.67145	0.996	D	0.67231	0.95	T	0.50127	-0.8864	10	0.87932	D	0	-15.386	13.9985	0.64419	0.0:0.0:0.0:1.0	.	524	Q6NUN0	ACSM5_HUMAN	H	524	ENSP00000327916:Y524H	ENSP00000327916:Y524H	Y	+	1	0	ACSM5	20358656	0.809000	0.29036	0.005000	0.12908	0.009000	0.06853	6.402000	0.73260	2.012000	0.59069	0.533000	0.62120	TAC		0.463	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		C	20451155	T	C	20451155	3	2	593	1	0	0	0	0	1	0	0	0	187	1522	53	3	1616	3	ACSM5	16	20451155	Missense_Mutation	SNP	T	TCGA-CZ-5461-01A-01D-1501-10		20451155	69903598	53	32428											
CDH16	1014	broad.mit.edu;ucsc.edu	37	16	66950224	66950224	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr16:66950224C>T	ENST00000299752.4	-	4	431	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.V80M|CDH16_ENST00000568632.1_Missense_Mutation_p.V80M|CDH16_ENST00000565796.1_Missense_Mutation_p.V80M	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.V80M(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCCCTGGTCACCAGCAGGAAG	0.627																																																1	Substitution - Missense(1)	kidney(1)											73	64	67					16																	66950224		2200	4300	6500	SO:0001583	missense	1014			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.238G>A	16.37:g.66950224C>T	ENSP00000299752:p.Val80Met		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800800	0.31869	.	.	ENSG00000166589	ENST00000394055;ENST00000299752	T;T	0.72167	-0.63;-0.63	4.79	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.229124	0.35772	N	0.002999	T	0.80297	0.4597	M	0.89163	3.01	0.25339	N	0.988966	D;D;D	0.57257	0.974;0.979;0.965	P;P;P	0.54401	0.66;0.751;0.643	T	0.72500	-0.4274	10	0.33141	T	0.24	-5.3808	10.7348	0.46117	0.0:0.8076:0.1924:0.0	.	80;80;80	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	M	80	ENSP00000377619:V80M;ENSP00000299752:V80M	ENSP00000299752:V80M	V	-	1	0	CDH16	65507725	0.055000	0.20627	1.000000	0.80357	0.998000	0.95712	0.717000	0.25851	1.205000	0.43262	0.609000	0.83330	GTG		0.627	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		T	66950224	C	T	66950224	3	4	593	1	0	0	0	0	1	0	0	0	3103	507	18	2	2311	2	CDH16	16	66950224	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	46499069	66950224	23404529	54	32429											
PMFBP1	83449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	72158692	72158692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr16:72158692C>A	ENST00000537792.1	-	1	60	c.61G>T	c.(61-63)Gag>Tag	p.E21*	PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.E710*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.E855*|PMFBP1_ENST00000537465.1_Nonsense_Mutation_p.E860*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	860						cytoplasm (GO:0005737)		p.E855*(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGGAGGTTCTCTTTTAAGGCG	0.567											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	kidney(1)											155	140	145					16																	72158692		2198	4300	6498	SO:0001587	stop_gained	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.61G>T	16.37:g.72158692C>A	ENSP00000443366:p.Glu21*	1135	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Nonsense_Mutation	SNP	ENST00000537792.1	37		.	.	.	.	.	.	.	.	.	.	C	40	7.912823	0.98557	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	.	.	.	5.09	3.13	0.36017	.	0.563207	0.16261	N	0.222234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.8509	6.7255	0.23355	0.0:0.7259:0.1795:0.0945	.	.	.	.	X	21;860;855;710	.	ENSP00000237353:E855X	E	-	1	0	PMFBP1	70716193	0.981000	0.34729	0.696000	0.30242	0.028000	0.11728	0.866000	0.27954	0.719000	0.32188	-0.176000	0.13171	GAG		0.567	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293		A	72158692	C	A	72158692	4	1	593	1	0	0	0	0	0	1	0	0	12136	922	32	4	540	4	PMFBP1	16	72158692	Nonsense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	5208468	72158692	18196061	55	32430											
WFDC1	58189	broad.mit.edu	37	16	84328656	84328656	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr16:84328656C>A	ENST00000219454.5	+	1	405	c.79C>A	c.(79-81)Cac>Aac	p.H27N	RP11-558A11.2_ENST00000569200.1_RNA|WFDC1_ENST00000568638.1_Missense_Mutation_p.H27N	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	27					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H27N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						ACTTCTCCTCCACGCCGGCTC	0.632																																																1	Substitution - Missense(1)	kidney(1)											77	86	83					16																	84328656		2200	4300	6500	SO:0001583	missense	58189			AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"WAP four-disulfide core domain containing"	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.79C>A	16.37:g.84328656C>A	ENSP00000219454:p.His27Asn		D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	ENST00000219454.5	37	CCDS10946.1	.	.	.	.	.	.	.	.	.	.	C	1.655	-0.513097	0.04200	.	.	ENSG00000103175	ENST00000219454	T	0.28454	1.61	4.12	-0.75	0.11080	.	1.287880	0.05193	N	0.503460	T	0.19366	0.0465	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27640	-1.0068	10	0.11182	T	0.66	0.3571	14.0664	0.64831	0.0:0.6483:0.3517:0.0	.	27	Q9HC57	WFDC1_HUMAN	N	27	ENSP00000219454:H27N	ENSP00000219454:H27N	H	+	1	0	WFDC1	82886157	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.286000	0.18902	-0.180000	0.10637	-0.502000	0.04539	CAC		0.632	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			A	84328656	C	A	84328656	3	1	593	1	0	0	0	0	1	0	0	0	17351	594	21	4	81	4	WFDC1	16	84328656	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	12169964	84328656	6026097	56	32431											
NCOR1	9611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15965052	15965052	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr17:15965052C>A	ENST00000268712.3	-	37	5801	c.5544G>T	c.(5542-5544)agG>agT	p.R1848S	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.R432S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1848	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R1848S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTCTTCTAACCTGGCAGCTT	0.493																																																1	Substitution - Missense(1)	kidney(1)											83	82	82					17																	15965052		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5544G>T	17.37:g.15965052C>A	ENSP00000268712:p.Arg1848Ser		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702255	0.68501	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.47177	0.85;0.86	5.87	5.87	0.94306	.	0.048073	0.85682	D	0.000000	T	0.55065	0.1897	L	0.36672	1.1	0.48040	D	0.999578	D;D;D;D	0.89917	0.997;0.992;0.981;1.0	D;P;D;D	0.87578	0.993;0.784;0.966;0.998	T	0.51212	-0.8734	10	0.35671	T	0.21	-8.9733	9.3046	0.37867	0.1448:0.7811:0.0:0.0741	.	658;1752;1848;368	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	S	1848;1752;432	ENSP00000268712:R1848S;ENSP00000379198:R432S	ENSP00000268712:R1848S	R	-	3	2	NCOR1	15905777	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.950000	0.29122	2.785000	0.95823	0.650000	0.86243	AGG		0.493	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		A	15965052	C	A	15965052	3	1	593	1	0	0	0	0	1	0	0	0	10237	506	18	4	1818	4	NCOR1	17	15965052	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10		15965052	65230158	57	32432											
GGNBP2	79893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34935726	34935726	+	Silent	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr17:34935726G>T	ENST00000304718.4	+	8	1213	c.897G>T	c.(895-897)ctG>ctT	p.L299L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	299					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.L299L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAGAAGTTCTGACCTGCTTGG	0.403																																																1	Substitution - coding silent(1)	kidney(1)											172	175	174					17																	34935726		2203	4300	6503	SO:0001819	synonymous_variant	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.897G>T	17.37:g.34935726G>T			B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	CCDS11314.1																																																																																				0.403	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		T	34935726	G	T	34935726	2	4	593	1	0	0	0	0	0	0	0	1	6361	1277	45	4		4	GGNBP2	17	34935726	Silent	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	18970674	34935726	46259484	58	32433											
ATP6V0A1	535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40639358	40639358	+	Silent	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr17:40639358C>T	ENST00000343619.4	+	10	1119	c.996C>T	c.(994-996)tcC>tcT	p.S332S	ATP6V0A1_ENST00000264649.6_Silent_p.S339S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Silent_p.S289S|ATP6V0A1_ENST00000393829.2_Silent_p.S332S|ATP6V0A1_ENST00000585525.1_Silent_p.S289S|ATP6V0A1_ENST00000546249.1_Silent_p.S332S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	332					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.S332S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		ACCTTGACTCCATCCAGTTTG	0.502																																																1	Substitution - coding silent(1)	kidney(1)											105	93	97					17																	40639358		2203	4300	6503	SO:0001819	synonymous_variant	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.996C>T	17.37:g.40639358C>T			B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	ENST00000343619.4	37	CCDS45684.1																																																																																				0.502	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		T	40639358	C	T	40639358	2	4	593	1	0	0	0	0	0	0	0	1	1168	581	21	2		2	ATP6V0A1	17	40639358	Silent	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	5703632	40639358	40555852	59	32434											
NBR1	4077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41343513	41343513	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr17:41343513C>T	ENST00000422280.1	+	10	1447	c.988C>T	c.(988-990)Cac>Tac	p.H330Y	NBR1_ENST00000590996.1_Missense_Mutation_p.H330Y|NBR1_ENST00000341165.6_Missense_Mutation_p.H330Y|NBR1_ENST00000589872.1_Missense_Mutation_p.H330Y|NBR1_ENST00000542611.1_Missense_Mutation_p.H309Y|NBR1_ENST00000389312.4_Missense_Mutation_p.H330Y	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	330					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.H330Y(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TAGGAAAATTCACCTGTGGAA	0.458																																																1	Substitution - Missense(1)	kidney(1)											43	44	44					17																	41343513		1844	4098	5942	SO:0001583	missense	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.988C>T	17.37:g.41343513C>T	ENSP00000411250:p.His330Tyr		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526294	0.64860	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.46063	1.46;0.88;1.46;1.46	5.37	4.41	0.53225	.	0.121081	0.56097	D	0.000032	T	0.39009	0.1062	N	0.14661	0.345	0.36233	D	0.852773	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.68621	0.959;0.959;0.931;0.959	T	0.32903	-0.9889	10	0.02654	T	1	-7.5548	12.3474	0.55128	0.0:0.9217:0.0:0.0783	.	330;309;330;330	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	Y	330;309;330;330;330	ENSP00000411250:H330Y;ENSP00000437545:H309Y;ENSP00000343479:H330Y;ENSP00000373963:H330Y	ENSP00000343479:H330Y	H	+	1	0	NBR1	38597039	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.101000	0.64566	1.283000	0.44513	-0.136000	0.14681	CAC		0.458	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		T	41343513	C	T	41343513	3	4	593	1	0	0	0	0	1	0	0	0	10202	826	29	2	1022	2	NBR1	17	41343513	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	704155	41343513	39851697	60	32435											
RGS9	8787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	63154436	63154436	+	Missense_Mutation	SNP	G	G	T	rs115440141	byFrequency	TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr17:63154436G>T	ENST00000262406.9	+	3	245	c.178G>T	c.(178-180)Gtc>Ttc	p.V60F	RGS9_ENST00000443584.3_Missense_Mutation_p.V60F|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000449996.3_Missense_Mutation_p.V60F	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	60	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.V60F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCAATGGATCGTCCAGCGGCT	0.502																																																1	Substitution - Missense(1)	kidney(1)											239	255	249					17																	63154436		2074	4199	6273	SO:0001583	missense	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.178G>T	17.37:g.63154436G>T	ENSP00000262406:p.Val60Phe		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	5.749	0.322690	0.10900	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T;T	0.23950	1.88;1.88;1.88	5.37	-8.01	0.01122	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	2.014360	0.02009	N	0.046841	T	0.17746	0.0426	N	0.17082	0.46	0.09310	N	1	B;B;B	0.31611	0.24;0.331;0.284	B;B;B	0.37601	0.102;0.254;0.105	T	0.37641	-0.9697	10	0.72032	D	0.01	.	9.1003	0.36664	0.4667:0.0:0.4365:0.0968	.	60;60;60	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	F	60	ENSP00000262406:V60F;ENSP00000396329:V60F;ENSP00000405814:V60F	ENSP00000262406:V60F	V	+	1	0	RGS9	60584898	0.000000	0.05858	0.009000	0.14445	0.389000	0.30415	-1.241000	0.02911	-1.591000	0.01621	-1.887000	0.00540	GTC		0.502	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		T	63154436	G	T	63154436	3	4	593	1	0	0	0	0	1	0	0	0	13319	1145	40	4	188	4	RGS9	17	63154436	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	21810923	63154436	18040774	61	32436											
STXBP2	6813	broad.mit.edu;ucsc.edu	37	19	7712373	7712373	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr19:7712373G>A	ENST00000221283.5	+	18	1703	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	STXBP2_ENST00000441779.2_Missense_Mutation_p.E569K|STXBP2_ENST00000602355.1_Missense_Mutation_p.E93K|STXBP2_ENST00000414284.2_Missense_Mutation_p.E555K	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	558					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)	p.E558K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CAGGGCCACCGAGGGCAAGTG	0.647																																																1	Substitution - Missense(1)	kidney(1)											21	22	22					19																	7712373		2196	4295	6491	SO:0001583	missense	6813			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1672G>A	19.37:g.7712373G>A	ENSP00000221283:p.Glu558Lys		B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	7.473	0.647165	0.14516	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.78003	-1.14;-1.14;-1.14	5.26	3.08	0.35506	.	0.497156	0.21440	N	0.074507	T	0.47930	0.1472	N	0.02751	-0.505	0.34273	D	0.681274	B;B;B;B	0.09022	0.002;0.001;0.0;0.0	B;B;B;B	0.10450	0.005;0.001;0.0;0.001	T	0.51568	-0.8689	10	0.02654	T	1	-7.9362	9.3607	0.38195	0.082:0.1445:0.7735:0.0	.	569;524;555;558	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	K	558;555;569;558	ENSP00000221283:E558K;ENSP00000409471:E555K;ENSP00000413606:E569K	ENSP00000221283:E558K	E	+	1	0	STXBP2	7618373	1.000000	0.71417	0.154000	0.22540	0.990000	0.78478	4.719000	0.61937	1.220000	0.43490	0.555000	0.69702	GAG		0.647	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		A	7712373	G	A	7712373	3	1	593	1	0	0	0	0	1	0	0	0	15358	1059	37	1	1742	1	STXBP2	19	7712373	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10		7712373	51416610	62	32437											
ZFP14	57677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36832152	36832152	+	Silent	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr19:36832152T>C	ENST00000270001.7	-	5	691	c.576A>G	c.(574-576)agA>agG	p.R192R		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R192R(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CAGTATGAATTCTCAGGTGTT	0.423																																																1	Substitution - coding silent(1)	kidney(1)											136	129	132					19																	36832152		2203	4300	6503	SO:0001819	synonymous_variant	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.576A>G	19.37:g.36832152T>C			A7MD23	Silent	SNP	ENST00000270001.7	37	CCDS33002.1																																																																																				0.423	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		C	36832152	T	C	36832152	2	2	593	1	0	0	0	0	0	0	0	1	17644	1780	62	3		3	ZFP14	19	36832152	Silent	SNP	T	TCGA-CZ-5461-01A-01D-1501-10	29119779	36832152	22296831	63	32438											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39028524	39028524	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr19:39028524G>C	ENST00000359596.3	+	84	11613	c.11613G>C	c.(11611-11613)gaG>gaC	p.E3871D	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000355481.4_Missense_Mutation_p.E3866D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3866D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3871					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E3871D(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCTAGGAGAGAAGGTCATGG	0.577																																																1	Substitution - Missense(1)	kidney(1)											171	132	145					19																	39028524		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11613G>C	19.37:g.39028524G>C	ENSP00000352608:p.Glu3871Asp		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	10.45	1.353993	0.24512	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95342	-3.68;-3.68;-3.68	4.85	2.75	0.32379	.	0.000000	0.64402	U	0.000003	D	0.92306	0.7559	M	0.73962	2.25	0.40361	D	0.979242	B;B;B	0.17268	0.021;0.004;0.005	B;B;B	0.16722	0.013;0.009;0.016	D	0.90334	0.4354	10	0.54805	T	0.06	.	8.0837	0.30760	0.2551:0.0:0.7449:0.0	.	3866;3866;3871	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3871;3866;3866	ENSP00000352608:E3871D;ENSP00000347667:E3866D;ENSP00000354254:E3866D	ENSP00000347667:E3866D	E	+	3	2	RYR1	43720364	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.252000	0.32874	1.426000	0.47256	0.546000	0.68486	GAG		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			C	39028524	G	C	39028524	3	2	593	1	0	0	0	0	1	0	0	0	13774	933	33	4	11947	4	RYR1	19	39028524	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	2196372	39028524	20100459	64	32439											
KLK13	26085	hgsc.bcm.edu;ucsc.edu	37	19	51559915	51559915	+	Missense_Mutation	SNP	C	C	T	rs150383488		TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr19:51559915C>T	ENST00000595793.1	-	5	805	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	KLK13_ENST00000335422.3_Missense_Mutation_p.V103I|KLK13_ENST00000595547.1_Missense_Mutation_p.V182I	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	255	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		ATCCACAGGACGTATCTTGAG	0.502																																																0								C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	213	203	207		763	0.9	0	19	dbSNP_134	207	0,8600		0,0,4300	no	missense	KLK13	NM_015596.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	255/278	51559915	1,13005	2203	4300	6503	SO:0001583	missense	26085				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.763G>A	19.37:g.51559915C>T	ENSP00000470555:p.Val255Ile		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456752	0.26161	2.27E-4	0.0	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.92858	-3.12	4.35	0.893	0.19236	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.161523	0.28914	N	0.013728	T	0.81592	0.4855	L	0.35487	1.065	0.09310	N	0.999996	B;P;B	0.48294	0.273;0.908;0.029	B;B;B	0.34452	0.027;0.183;0.015	T	0.74070	-0.3783	10	0.40728	T	0.16	.	6.0054	0.19542	0.0:0.6495:0.163:0.1875	.	103;182;255	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	I	255;103	ENSP00000334079:V103I	ENSP00000156476:V255I	V	-	1	0	KLK13	56251727	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.793000	0.04589	0.192000	0.20272	-0.263000	0.10527	GTC		0.502	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		T	51559915	C	T	51559915	3	4	593	1	0	0	0	0	1	0	0	0	8403	536	19	1	74	1	KLK13	19	51559915	Missense_Mutation	SNP	C	TCGA-CZ-5461-01A-01D-1501-10	12531391	51559915	7569068	65	32440											
USP29	57663	broad.mit.edu;ucsc.edu	37	19	57642541	57642541	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr19:57642541G>A	ENST00000254181.4	+	4	2952	c.2498G>A	c.(2497-2499)gGg>gAg	p.G833E	USP29_ENST00000598197.1_Missense_Mutation_p.G833E|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	833	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.G833E(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCCATATCGGGAGCTCCCCA	0.478																																																1	Substitution - Missense(1)	kidney(1)											82	71	75					19																	57642541		2203	4300	6503	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2498G>A	19.37:g.57642541G>A	ENSP00000254181:p.Gly833Glu			Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258444	0.59321	.	.	ENSG00000131864	ENST00000254181	D	0.97831	-4.56	2.57	2.57	0.30868	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.32401	U	0.006146	D	0.97942	0.9323	M	0.64170	1.965	0.38539	D	0.949167	D	0.89917	1.0	D	0.97110	1.0	D	0.98433	1.0583	10	0.87932	D	0	-13.6273	11.2917	0.49254	0.0:0.0:1.0:0.0	.	833	Q9HBJ7	UBP29_HUMAN	E	833	ENSP00000254181:G833E	ENSP00000254181:G833E	G	+	2	0	USP29	62334353	1.000000	0.71417	0.024000	0.17045	0.755000	0.42902	5.654000	0.67974	1.714000	0.51371	0.467000	0.42956	GGG		0.478	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			A	57642541	G	A	57642541	3	1	593	1	0	0	0	0	1	0	0	0	17064	1232	43	2	2500	2	USP29	19	57642541	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	6082626	57642541	1486442	66	32441											
GCFC1	94104	broad.mit.edu;ucsc.edu	37	21	34142136	34142136	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr21:34142136G>A	ENST00000331923.4	-	2	650	c.461C>T	c.(460-462)tCa>tTa	p.S154L	C21orf49_ENST00000382378.1_5'Flank|PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.S154L|C21orf49_ENST00000453404.1_5'Flank|C21orf49_ENST00000477513.1_5'Flank|C21orf49_ENST00000382375.4_5'Flank	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	154					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S154L(1)									TTCAGCTGATGAGTTGAGTTC	0.303																																																1	Substitution - Missense(1)	kidney(1)											161	143	149					21																	34142136		2202	4297	6499	SO:0001583	missense	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.461C>T	21.37:g.34142136G>A	ENSP00000328992:p.Ser154Leu		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469432	0.26423	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.34667	1.78;1.35	5.28	5.28	0.74379	.	0.297299	0.28736	N	0.014320	T	0.56366	0.1980	M	0.71581	2.175	0.35997	D	0.837088	B;D	0.57899	0.137;0.981	B;D	0.67231	0.109;0.95	T	0.61869	-0.6974	10	0.31617	T	0.26	-2.4229	14.1899	0.65633	0.0:0.1496:0.8504:0.0	.	154;154	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	L	154	ENSP00000328992:S154L;ENSP00000290178:S154L	ENSP00000290178:S154L	S	-	2	0	GCFC1	33064007	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	6.483000	0.73617	2.475000	0.83589	0.650000	0.86243	TCA		0.303	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		A	34142136	G	A	34142136	3	1	593	1	0	0	0	0	1	0	0	0	6291	1294	45	2	2478	2	GCFC1	21	34142136	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10		34142136	13987759	67	32442											
CCNB3	85417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	50053811	50053811	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chrX:50053811G>T	ENST00000376042.1	+	6	2940	c.2642G>T	c.(2641-2643)tGg>tTg	p.W881L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.W881L			Q8WWL7	CCNB3_HUMAN	cyclin B3	881					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.W881L(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCAGCTTTGTGGGAGAAGCCC	0.498																																																2	Substitution - Missense(2)	kidney(2)											53	47	49					X																	50053811		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2642G>T	X.37:g.50053811G>T	ENSP00000365210:p.Trp881Leu		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	7.129	0.579593	0.13686	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.34072	1.38;1.38	3.35	-0.393	0.12438	.	6.410320	0.00166	N	0.000003	T	0.18800	0.0451	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.12837	0.008	T	0.10870	-1.0611	9	.	.	.	.	5.7531	0.18158	0.5404:0.0:0.4596:0.0	.	881	Q8WWL7	CCNB3_HUMAN	L	881	ENSP00000365210:W881L;ENSP00000276014:W881L	.	W	+	2	0	CCNB3	50070551	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.467000	0.06664	-0.184000	0.10567	-0.912000	0.02778	TGG		0.498	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			T	50053811	G	T	50053811	3	4	593	1	0	0	0	0	1	0	0	0	2916	1357	47	4	2656	4	CCNB3	23	50053811	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10		50053811	105216749	68	32443											
PHF6	84295	broad.mit.edu;ucsc.edu	37	X	133551239	133551239	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chrX:133551239G>C	ENST00000332070.3	+	9	1077	c.875G>C	c.(874-876)tGt>tCt	p.C292S	PHF6_ENST00000370803.3_Missense_Mutation_p.C292S|PHF6_ENST00000370799.1_Missense_Mutation_p.C293S|PHF6_ENST00000394292.1_Missense_Mutation_p.C293S|PHF6_ENST00000416404.2_Missense_Mutation_p.C258S	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	292	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.C292S(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ACTATTGGATGTGAAATAAAA	0.353			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)		Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	2	Substitution - Missense(2)	kidney(2)											129	114	119					X																	133551239		2203	4299	6502	SO:0001583	missense	84295			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.875G>C	X.37:g.133551239G>C	ENSP00000329097:p.Cys292Ser		A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769052	0.90020	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404	D;D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82;-4.82	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.040904	0.85682	N	0.000000	D	0.99223	0.9730	M	0.92970	3.365	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.991	D;D;D	0.76071	0.987;0.987;0.987	D	0.99250	1.0887	10	0.87932	D	0	-9.8618	18.0724	0.89413	0.0:0.0:1.0:0.0	.	258;292;293	B4E0G4;Q8IWS0;E9PC97	.;PHF6_HUMAN;.	S	292;292;293;293;258	ENSP00000359839:C292S;ENSP00000329097:C292S;ENSP00000377831:C293S;ENSP00000359835:C293S;ENSP00000394480:C258S	ENSP00000329097:C292S	C	+	2	0	PHF6	133378905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.490000	0.84030	0.594000	0.82650	TGT		0.353	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		C	133551239	G	C	133551239	3	2	593	1	0	0	0	0	1	0	0	0	11840	1377	48	4	1010	4	PHF6	23	133551239	Missense_Mutation	SNP	G	TCGA-CZ-5461-01A-01D-1501-10	83497428	133551239	21719321	69	32444											
WDR65	149465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43647495	43647495	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr1:43647495G>T	ENST00000372492.4	+	3	772	c.448G>T	c.(448-450)Gac>Tac	p.D150Y	WDR65_ENST00000528956.1_Missense_Mutation_p.D150Y	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		150								p.D150Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTTAGAATCGACACTCAGAA	0.388																																																1	Substitution - Missense(1)	kidney(1)											56	60	59					1																	43647495		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.448G>T	1.37:g.43647495G>T	ENSP00000361570:p.Asp150Tyr		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37		.	.	.	.	.	.	.	.	.	.	G	16.59	3.165507	0.57476	.	.	ENSG00000243710	ENST00000372492;ENST00000528956;ENST00000529956	T;T;T	0.45276	1.13;1.18;0.9	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.371984	0.33515	N	0.004830	T	0.59473	0.2196	L	0.51422	1.61	0.19575	N	0.999969	P;D	0.67145	0.942;0.996	B;D	0.65010	0.181;0.931	T	0.54516	-0.8282	10	0.62326	D	0.03	.	19.1541	0.93503	0.0:0.0:1.0:0.0	.	150;150	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	Y	150	ENSP00000361570:D150Y;ENSP00000435310:D150Y;ENSP00000434133:D150Y	ENSP00000361570:D150Y	D	+	1	0	WDR65	43420082	0.920000	0.31207	0.078000	0.20375	0.958000	0.62258	2.992000	0.49417	2.626000	0.88956	0.557000	0.71058	GAC		0.388	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			T	43647495	G	T	43647495	3	4	594	1	0	0	0	0	1	0	0	0	17321	1058	37	4	454	4	WDR65	1	43647495	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10		43647495	205603126	1	32445											
BCL9	607	broad.mit.edu;ucsc.edu	37	1	147091598	147091598	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr1:147091598C>G	ENST00000234739.3	+	8	2377	c.1637C>G	c.(1636-1638)cCg>cGg	p.P546R		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	546	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.P546R(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCTCTGCCCCCGAGGGGCATG	0.592			T	"IGH@, IGL@"	B-ALL																																		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	1	Substitution - Missense(1)	kidney(1)											54	60	58					1																	147091598		2203	4300	6503	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1637C>G	1.37:g.147091598C>G	ENSP00000234739:p.Pro546Arg		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941618	0.53079	.	.	ENSG00000116128	ENST00000234739	T	0.56444	0.46	5.51	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	L	0.51422	1.61	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.63597	0.916;0.916	T	0.53429	-0.8440	10	0.34782	T	0.22	-6.2061	14.5299	0.67917	0.0:0.9303:0.0:0.0697	.	546;546	Q1JQ81;O00512	.;BCL9_HUMAN	R	546	ENSP00000234739:P546R	ENSP00000234739:P546R	P	+	2	0	BCL9	145558222	0.976000	0.34144	0.909000	0.35828	0.988000	0.76386	2.470000	0.45119	1.577000	0.49804	0.561000	0.74099	CCG		0.592	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		G	147091598	C	G	147091598	3	3	594	1	0	0	0	0	1	0	0	0	1381	652	23	4	1655	4	BCL9	1	147091598	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	103444103	147091598	102159023	2	32446											
INSRR	3645	broad.mit.edu;ucsc.edu	37	1	156812296	156812296	+	Missense_Mutation	SNP	C	C	T	rs138327752	byFrequency	TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr1:156812296C>T	ENST00000368195.3	-	18	3527	c.3131G>A	c.(3130-3132)cGt>cAt	p.R1044H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1044	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1044H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCCAGGAGACGCACCTGGGA	0.552													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19760	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	,HIS/ARG	0,4406		0,0,2203	68	70	69		,3131	4.4	1	1	dbSNP_134	69	6,8594	5.0+/-18.6	0,6,4294	yes	intron,missense	INSRR,NTRK1	NM_001007792.1,NM_014215.2	,29	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	,probably-damaging	,1044/1298	156812296	6,13000	2203	4300	6503	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3131G>A	1.37:g.156812296C>T	ENSP00000357178:p.Arg1044His		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.7	4.448305	0.84101	0.0	6.98E-4	ENSG00000027644	ENST00000368195	D	0.90197	-2.63	4.38	4.38	0.52667	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46758	D	0.000270	D	0.94571	0.8251	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95258	0.8366	9	0.87932	D	0	.	15.6643	0.77213	0.0:1.0:0.0:0.0	.	1044	P14616	INSRR_HUMAN	H	1044	ENSP00000357178:R1044H	ENSP00000357178:R1044H	R	-	2	0	INSRR	155078920	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.627000	0.83176	2.288000	0.76882	0.561000	0.74099	CGT		0.552	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		T	156812296	C	T	156812296	3	4	594	1	0	0	0	0	1	0	0	0	7776	536	19	1	781	1	INSRR	1	156812296	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	9720698	156812296	92438325	3	32447											
SPTA1	6708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158618345	158618345	+	Missense_Mutation	SNP	C	C	T	rs148714399		TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr1:158618345C>T	ENST00000368147.4	-	26	3848	c.3668G>A	c.(3667-3669)cGa>cAa	p.R1223Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1223					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1223Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATGCCGTCGCTGAAGAGC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		13940	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	1,3899		0,1,1949	121	120	121		3668	5.5	1	1	dbSNP_134	121	0,8280		0,0,4140	no	missense	SPTA1	NM_003126.2	43	0,1,6089	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	1223/2420	158618345	1,12179	1950	4140	6090	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3668G>A	1.37:g.158618345C>T	ENSP00000357129:p.Arg1223Gln		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.794612	0.96952	2.56E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48201	0.82;0.82	5.5	5.5	0.81552	.	0.000000	0.28560	N	0.014914	T	0.68044	0.2958	M	0.84082	2.675	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.70193	-0.4939	10	0.62326	D	0.03	.	18.1469	0.89661	0.0:1.0:0.0:0.0	.	1223	P02549	SPTA1_HUMAN	Q	1223	ENSP00000357130:R1223Q;ENSP00000357129:R1223Q	ENSP00000357129:R1223Q	R	-	2	0	SPTA1	156884969	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.130000	0.77235	2.861000	0.98227	0.655000	0.94253	CGA		0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		T	158618345	C	T	158618345	3	4	594	1	0	0	0	0	1	0	0	0	15121	884	31	1	3699	1	SPTA1	1	158618345	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	1806049	158618345	90632276	4	32448											
RGL1	23179	broad.mit.edu;ucsc.edu	37	1	183891372	183891372	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr1:183891372A>G	ENST00000360851.3	+	17	2199	c.2021A>G	c.(2020-2022)aAa>aGa	p.K674R	RGL1_ENST00000304685.4_Missense_Mutation_p.K709R|RGL1_ENST00000539189.1_Missense_Mutation_p.K645R|RGL1_ENST00000536277.1_Missense_Mutation_p.K672R			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	674	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.K709R(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGCCAGGATAAAACCCCCGCT	0.522											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											73	66	68					1																	183891372		2203	4300	6503	SO:0001583	missense	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2021A>G	1.37:g.183891372A>G	ENSP00000354097:p.Lys674Arg	1987	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	A	15.12	2.738820	0.49045	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.29	5.29	0.74685	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.45698	1.435	0.58432	D	0.999997	B;D;D;D	0.69078	0.05;0.997;0.997;0.997	B;D;D;D	0.80764	0.047;0.994;0.994;0.994	T	0.02385	-1.1167	10	0.22706	T	0.39	.	15.1668	0.72833	1.0:0.0:0.0:0.0	.	645;672;674;709	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	R	709;709;672;674;645	ENSP00000303192:K709R;ENSP00000356501:K709R;ENSP00000438662:K672R;ENSP00000354097:K674R;ENSP00000437355:K645R	ENSP00000303192:K709R	K	+	2	0	RGL1	182157995	1.000000	0.71417	0.993000	0.49108	0.238000	0.25445	5.882000	0.69714	2.112000	0.64535	0.533000	0.62120	AAA		0.522	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		G	183891372	A	G	183891372	3	3	594	1	0	0	0	0	1	0	0	0	13282	14	1	3	2192	3	RGL1	1	183891372	Missense_Mutation	SNP	A	TCGA-CZ-5462-01A-01D-1501-10	25273027	183891372	65359249	5	32449											
HMCN1	83872	broad.mit.edu;ucsc.edu	37	1	185953431	185953431	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr1:185953431C>T	ENST00000271588.4	+	19	3150	c.2921C>T	c.(2920-2922)tCt>tTt	p.S974F	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S974F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	974	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S974F(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAACTACCTCTGTGGTTGTG	0.398																																																1	Substitution - Missense(1)	kidney(1)											208	198	201					1																	185953431		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2921C>T	1.37:g.185953431C>T	ENSP00000271588:p.Ser974Phe		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116064	0.56505	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.69040	-0.37;-0.37	5.81	2.66	0.31614	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.299822	0.37955	N	0.001875	T	0.50531	0.1621	N	0.21097	0.63	0.29837	N	0.82954	B;P	0.40107	0.338;0.703	B;B	0.43990	0.301;0.438	T	0.45469	-0.9259	10	0.17832	T	0.49	.	7.4112	0.27019	0.1094:0.5639:0.2601:0.0665	.	358;974	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	F	974	ENSP00000271588:S974F;ENSP00000356462:S974F	ENSP00000271588:S974F	S	+	2	0	HMCN1	184220054	0.329000	0.24696	0.999000	0.59377	0.994000	0.84299	0.852000	0.27764	1.354000	0.45846	0.655000	0.94253	TCT		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		T	185953431	C	T	185953431	3	4	594	1	0	0	0	0	1	0	0	0	7222	913	32	2	2995	2	HMCN1	1	185953431	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	2062059	185953431	63297190	6	32450											
DISP1	84976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223179160	223179160	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr1:223179160G>T	ENST00000284476.6	+	8	4585	c.4421G>T	c.(4420-4422)aGg>aTg	p.R1474M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1474					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.R1474M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCTGGTTGTAGGTCTTGCCCA	0.428																																																1	Substitution - Missense(1)	kidney(1)											75	74	74					1																	223179160		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4421G>T	1.37:g.223179160G>T	ENSP00000284476:p.Arg1474Met		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061137	0.36373	.	.	ENSG00000154309	ENST00000284476	D	0.91686	-2.89	5.29	4.3	0.51218	.	1.233450	0.05373	N	0.535729	D	0.84570	0.5501	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.72849	-0.4168	10	0.72032	D	0.01	-1.4628	3.4084	0.07350	0.223:0.0:0.3174:0.4595	.	1474	Q96F81	DISP1_HUMAN	M	1474	ENSP00000284476:R1474M	ENSP00000284476:R1474M	R	+	2	0	DISP1	221245783	0.879000	0.30193	0.012000	0.15200	0.709000	0.40893	1.506000	0.35747	1.151000	0.42436	0.655000	0.94253	AGG		0.428	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		T	223179160	G	T	223179160	3	4	594	1	0	0	0	0	1	0	0	0	4541	1000	35	4	4447	4	DISP1	1	223179160	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	37225729	223179160	26071461	7	32451											
SLC9A4	389015	broad.mit.edu;ucsc.edu	37	2	103120043	103120043	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr2:103120043T>A	ENST00000295269.4	+	3	1314	c.857T>A	c.(856-858)tTt>tAt	p.F286Y		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	286					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.F286Y(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTTTTTGGATTTATTTCTGCA	0.413																																																1	Substitution - Missense(1)	kidney(1)											324	303	310					2																	103120043		2203	4300	6503	SO:0001583	missense	389015				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.857T>A	2.37:g.103120043T>A	ENSP00000295269:p.Phe286Tyr		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089207	0.76756	.	.	ENSG00000180251	ENST00000295269	T	0.14893	2.47	5.61	5.61	0.85477	Cation/H+ exchanger (1);	0.047345	0.85682	D	0.000000	T	0.31389	0.0795	M	0.62088	1.915	0.58432	D	0.999997	P	0.52577	0.954	P	0.52031	0.688	T	0.01739	-1.1284	10	0.49607	T	0.09	.	16.1025	0.81194	0.0:0.0:0.0:1.0	.	286	Q6AI14	SL9A4_HUMAN	Y	286	ENSP00000295269:F286Y	ENSP00000295269:F286Y	F	+	2	0	SLC9A4	102486475	1.000000	0.71417	0.998000	0.56505	0.112000	0.19704	7.997000	0.88414	2.254000	0.74563	0.533000	0.62120	TTT		0.413	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		A	103120043	T	A	103120043	3	1	594	1	0	0	0	0	1	0	0	0	14722	1841	64	5	867	5	SLC9A4	2	103120043	Missense_Mutation	SNP	T	TCGA-CZ-5462-01A-01D-1501-10		103120043	140079330	8	32452											
NCKAP5	344148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	133540313	133540313	+	Silent	SNP	G	G	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr2:133540313G>A	ENST00000409261.1	-	14	4444	c.4071C>T	c.(4069-4071)agC>agT	p.S1357S	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Silent_p.S1357S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1357								p.S1357S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GACTGCTGAAGCTGCCTGAGC	0.617																																																1	Substitution - coding silent(1)	kidney(1)											40	40	40					2																	133540313		1908	4123	6031	SO:0001819	synonymous_variant	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4071C>T	2.37:g.133540313G>A			B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	CCDS46418.1																																																																																				0.617	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		A	133540313	G	A	133540313	2	1	594	1	0	0	0	0	0	0	0	1	10225	962	34	2		2	NCKAP5	2	133540313	Silent	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	30420270	133540313	109659060	9	32453											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179406075	179406075	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr2:179406075T>A	ENST00000591111.1	-	300	93030	c.92806A>T	c.(92806-92808)Att>Ttt	p.I30936F	TTN-AS1_ENST00000450692.2_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I23704F|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I23637F|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I23512F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I32577F|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I30009F|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30936	Fibronectin type-III 125. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I23704F(1)|p.I23512F(1)|p.I30007F(1)|p.I30009F(1)|p.I23637F(1)		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)			CTTGCATTAATGGCTGTGACA	0.458																																																5	Substitution - Missense(5)	kidney(5)											72	73	72					2																	179406075		1943	4138	6081	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92806A>T	2.37:g.179406075T>A	ENSP00000465570:p.Ile30936Phe		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	19.85	3.904292	0.72868	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.72	4.56	0.56223	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52789	0.1756	L	0.39245	1.2	0.47698	D	0.99949	P;P;P;P	0.38582	0.638;0.638;0.638;0.638	P;P;P;P	0.47015	0.534;0.534;0.534;0.534	T	0.55276	-0.8166	9	0.87932	D	0	.	11.6361	0.51204	0.0:0.0693:0.0:0.9307	.	23512;23637;23704;30936	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	30009;23512;23704;23637;23509	ENSP00000343764:I30009F;ENSP00000434586:I23512F;ENSP00000340554:I23704F;ENSP00000352154:I23637F	ENSP00000340554:I23704F	I	-	1	0	TTN	179114321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.267000	0.58877	0.996000	0.38943	0.459000	0.35465	ATT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179406075	T	A	179406075	3	1	594	1	0	0	0	0	1	0	0	0	16740	1464	51	5	10302	5	TTN	2	179406075	Missense_Mutation	SNP	T	TCGA-CZ-5462-01A-01D-1501-10	45865762	179406075	63793298	10	32454											
TTN	7273	broad.mit.edu;ucsc.edu	37	2	179516238	179516238	+	Silent	SNP	A	A	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr2:179516238A>T	ENST00000591111.1	-	162	35192	c.34968T>A	c.(34966-34968)gtT>gtA	p.V11656V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.V13163V|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.V10729V|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11656	Glu-rich.|Pro-rich.				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)	p.V10729V(1)		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)			TCTTTTCAGGAACAACCTCCT	0.463																																																1	Substitution - coding silent(1)	kidney(1)											66	63	64					2																	179516238		1838	4082	5920	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34968T>A	2.37:g.179516238A>T			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	Silent	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	9.666	1.145475	0.21288	.	.	ENSG00000155657	ENST00000426232	.	.	.	5.22	-2.64	0.06114	.	.	.	.	.	T	0.52273	0.1724	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48570	-0.9024	4	.	.	.	.	8.5876	0.33668	0.3447:0.0:0.5337:0.1216	.	.	.	.	T	4	.	.	S	-	1	0	TTN	179224483	0.000000	0.05858	0.980000	0.43619	0.978000	0.69477	-1.388000	0.02533	-0.388000	0.07797	0.528000	0.53228	TCC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179516238	A	T	179516238	2	4	594	1	0	0	0	0	0	0	0	1	16740	233	9	5		5	TTN	2	179516238	Silent	SNP	A	TCGA-CZ-5462-01A-01D-1501-10	110163	179516238	63683135	11	32455											
BARD1	580	broad.mit.edu;hgsc.bcm.edu	37	2	215632207	215632207	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr2:215632207C>T	ENST00000260947.4	-	6	1701	c.1567G>A	c.(1567-1569)Gtt>Att	p.V523I	BARD1_ENST00000449967.2_Splice_Site_p.V379I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	523					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V523I(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACTACTTACACAGCATTTCTG	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																							2	Substitution - Missense(2)	kidney(2)											93	85	88					2																	215632207		2203	4300	6503	SO:0001630	splice_region_variant	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1568+1G>A	2.37:g.215632207C>T			F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421994	0.62622	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.65916	-0.18;-0.18	5.64	5.64	0.86602	Ankyrin repeat-containing domain (3);	0.064498	0.64402	D	0.000006	T	0.63510	0.2517	L	0.37750	1.13	0.48288	D	0.999627	B;P	0.41546	0.172;0.754	B;P	0.46362	0.082;0.514	T	0.62586	-0.6823	10	0.48119	T	0.1	-6.1283	20.0627	0.97684	0.0:1.0:0.0:0.0	.	379;523	E7EUI3;Q99728	.;BARD1_HUMAN	I	523;379	ENSP00000260947:V523I;ENSP00000406752:V379I	ENSP00000260947:V523I	V	-	1	0	BARD1	215340452	0.991000	0.36638	0.983000	0.44433	0.991000	0.79684	2.637000	0.46553	2.807000	0.96579	0.591000	0.81541	GTT		0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465	Missense_Mutation	T	215632207	C	T	215632207	5	4	594	1	0	0	0	0	0	0	1	0	1312	492	17	2	790	2	BARD1	2	215632207	Splice_Site	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	36115969	215632207	27567166	12	32456											
CXCR6	10663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	45988547	45988547	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr3:45988547C>T	ENST00000458629.1	+	1	2037	c.574C>T	c.(574-576)Ctt>Ttt	p.L192F	FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.L192F|CXCR6_ENST00000304552.4_Missense_Mutation_p.L192F|CXCR6_ENST00000438735.1_Missense_Mutation_p.L192F|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000535325.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	192					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)	p.L192F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CACTGTGGTTCTTGCCACCCA	0.463																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)											1	Substitution - Missense(1)	kidney(1)											130	130	130					3																	45988547		2203	4300	6503	SO:0001583	missense	10663			AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.574C>T	3.37:g.45988547C>T	ENSP00000395704:p.Leu192Phe		O00575|Q9HCA5	Missense_Mutation	SNP	ENST00000458629.1	37	CCDS2735.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689298	0.68271	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.937000	0.09002	N	0.862892	T	0.58264	0.2110	M	0.67517	2.055	0.25673	N	0.98587	D	0.89917	1.0	D	0.79784	0.993	T	0.49224	-0.8962	10	0.56958	D	0.05	.	9.9843	0.41832	0.153:0.6991:0.1479:0.0	.	192	O00574	CXCR6_HUMAN	F	192	ENSP00000396218:L192F;ENSP00000304414:L192F;ENSP00000395704:L192F;ENSP00000396886:L192F	ENSP00000304414:L192F	L	+	1	0	CXCR6	45963551	0.128000	0.22383	0.736000	0.30914	0.953000	0.61014	1.690000	0.37711	2.785000	0.95823	0.655000	0.94253	CTT		0.463	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			T	45988547	C	T	45988547	3	4	594	1	0	0	0	0	1	0	0	0	4097	913	32	2	576	2	CXCR6	3	45988547	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10		45988547	152033883	13	32457											
IL20RB	53833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	136710849	136710849	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr3:136710849T>C	ENST00000329582.4	+	5	850	c.601T>C	c.(601-603)Tac>Cac	p.Y201H	IL20RB_ENST00000309741.5_Intron	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	201	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)		p.Y201H(2)		kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGGGGCTGCATACTGTGTGAA	0.517																																																2	Substitution - Missense(2)	kidney(2)											155	142	147					3																	136710849		2203	4300	6503	SO:0001583	missense	53833			BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	6004	protein-coding gene	gene with protein product		605621	"fibronectin type III domain containing 6"	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.601T>C	3.37:g.136710849T>C	ENSP00000328133:p.Tyr201His		B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	ENST00000329582.4	37	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510733	0.64522	.	.	ENSG00000174564	ENST00000329582	D	0.87103	-2.21	4.95	3.77	0.43336	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000027	D	0.87924	0.6300	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85864	0.1412	10	0.51188	T	0.08	-3.9518	7.6902	0.28563	0.0:0.0979:0.0:0.9021	.	201	Q6UXL0	I20RB_HUMAN	H	201	ENSP00000328133:Y201H	ENSP00000328133:Y201H	Y	+	1	0	IL20RB	138193539	0.995000	0.38212	0.645000	0.29479	0.961000	0.63080	2.992000	0.49417	0.720000	0.32209	0.379000	0.24179	TAC		0.517	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		C	136710849	T	C	136710849	3	2	594	1	0	0	0	0	1	0	0	0	7671	1406	49	3	619	3	IL20RB	3	136710849	Missense_Mutation	SNP	T	TCGA-CZ-5462-01A-01D-1501-10	90722302	136710849	61311581	14	32458											
AFAP1	60312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	7783208	7783208	+	Intron	SNP	C	C	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr4:7783208C>A	ENST00000360265.4	-	12	1765				AFAP1_ENST00000382543.3_Silent_p.L559L|AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_Intron|AFAP1_ENST00000420658.1_Silent_p.L559L			Q8N556	AFAP1_HUMAN	actin filament associated protein 1							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.L559L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TGTCAGCAGACAGCCTAGAGG	0.537																																																1	Substitution - coding silent(1)	kidney(1)											140	131	134					4																	7783208		692	1591	2283	SO:0001627	intron_variant	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1531-2605G>T	4.37:g.7783208C>A			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	CCDS3397.1																																																																																				0.537	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		A	7783208	C	A	7783208	1	1	594	0	1	0	0	0	0	0	0	0	353	465	17	4		4	AFAP1	4	7783208	Intron	SNP	C	TCGA-CZ-5462-01A-01D-1501-10		7783208	183371068	15	32459											
PCDH7	5099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	30724917	30724917	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr4:30724917G>T	ENST00000361762.2	+	1	2881	c.1873G>T	c.(1873-1875)Gtg>Ttg	p.V625L	PCDH7_ENST00000543491.1_Missense_Mutation_p.V625L	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	625	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V625L(1)|p.V578L(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAGCACTACGGTGATTGTGCA	0.493																																																2	Substitution - Missense(2)	kidney(2)											96	101	99					4																	30724917		2203	4300	6503	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1873G>T	4.37:g.30724917G>T	ENSP00000355243:p.Val625Leu		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.939966|3.939966	0.73557|0.73557	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.25250	.|1.81;1.81	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.43678|0.43678	0.1258|0.1258	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63046	.|0.992;0.992;0.988	.|D;D;D	.|0.69824	.|0.943;0.943;0.966	T|T	0.29488|0.29488	-1.0010|-1.0010	5|9	.|0.87932	.|D	.|0	.|.	19.2965|19.2965	0.94124|0.94124	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|625;578;625	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	V|L	314|625;625;578	.|ENSP00000355243:V625L;ENSP00000441802:V625L	.|ENSP00000330302:V578L	G|V	+|+	2|1	0|0	PCDH7|PCDH7	30334015|30334015	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.958000|0.958000	0.62258|0.62258	9.657000|9.657000	0.98554|0.98554	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.493	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		T	30724917	G	T	30724917	3	4	594	1	0	0	0	0	1	0	0	0	11518	1261	44	4	1875	4	PCDH7	4	30724917	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	22941709	30724917	160429359	16	32460											
EPHA5	2044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	66197808	66197808	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr4:66197808G>T	ENST00000273854.3	-	17	3491	c.2891C>A	c.(2890-2892)tCt>tAt	p.S964Y	EPHA5_ENST00000432638.2_Missense_Mutation_p.S801Y|EPHA5_ENST00000511294.1_Missense_Mutation_p.S965Y|EPHA5_ENST00000354839.4_Missense_Mutation_p.S942Y	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	964					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.S964Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTAGGCCCCAGATCCTAGTGG	0.358										TSP Lung(17;0.13)																																						1	Substitution - Missense(1)	kidney(1)											72	66	68					4																	66197808		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2891C>A	4.37:g.66197808G>T	ENSP00000273854:p.Ser964Tyr		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	1.214	-0.628714	0.03610	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;D	0.82619	-0.7;-0.76;-0.65;-1.63	5.38	3.58	0.41010	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.458728	0.19924	N	0.103035	T	0.58637	0.2136	N	0.01188	-0.97	0.31377	N	0.679478	B;B;B;P	0.34800	0.119;0.001;0.098;0.469	B;B;B;B	0.39419	0.102;0.006;0.047;0.299	T	0.61917	-0.6964	10	0.02654	T	1	.	12.2665	0.54681	0.0:0.391:0.4974:0.1116	.	943;965;942;964	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Y	964;801;942;965	ENSP00000273854:S964Y;ENSP00000389208:S801Y;ENSP00000346899:S942Y;ENSP00000427638:S965Y	ENSP00000273854:S964Y	S	-	2	0	EPHA5	65880403	0.994000	0.37717	0.975000	0.42487	0.978000	0.69477	0.943000	0.29030	0.680000	0.31366	0.491000	0.48974	TCT		0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		T	66197808	G	T	66197808	3	4	594	1	0	0	0	0	1	0	0	0	5172	942	33	4	230	4	EPHA5	4	66197808	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	35472891	66197808	124956468	17	32461											
TMPRSS11D	9407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	68725379	68725379	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr4:68725379G>A	ENST00000283916.6	-	2	124	c.26C>T	c.(25-27)tCg>tTg	p.S9L	TMPRSS11D_ENST00000545541.1_Intron|TMPRSS11D_ENST00000509584.1_Intron|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	9					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.S9L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTTGAAGTCGAAGTTACACG	0.393																																																1	Substitution - Missense(1)	kidney(1)											94	83	87					4																	68725379		2203	4300	6503	SO:0001583	missense	9407			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.26C>T	4.37:g.68725379G>A	ENSP00000283916:p.Ser9Leu		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052437	0.36181	.	.	ENSG00000153802	ENST00000283916	D	0.87809	-2.3	5.19	4.33	0.51752	.	0.309933	0.23492	N	0.047585	D	0.82462	0.5042	M	0.63843	1.955	0.21184	N	0.999769	B	0.31503	0.326	B	0.22601	0.04	T	0.75950	-0.3137	10	0.52906	T	0.07	.	9.9045	0.41368	0.0947:0.0:0.9053:0.0	.	9	O60235	TM11D_HUMAN	L	9	ENSP00000283916:S9L	ENSP00000283916:S9L	S	-	2	0	TMPRSS11D	68407974	0.060000	0.20803	0.012000	0.15200	0.069000	0.16628	2.755000	0.47540	2.704000	0.92352	0.563000	0.77884	TCG		0.393	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		A	68725379	G	A	68725379	3	1	594	1	0	0	0	0	1	0	0	0	16246	1059	37	1	1266	1	TMPRSS11D	4	68725379	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	2527571	68725379	122428897	18	32462											
DMP1	1758	broad.mit.edu	37	4	88583134	88583134	+	Silent	SNP	C	C	T	rs375708823		TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr4:88583134C>T	ENST00000339673.6	+	6	303	c.204C>T	c.(202-204)gaC>gaT	p.D68D	DMP1_ENST00000282479.7_Silent_p.D52D|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	68					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.D68D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ACCCCAGTGACAGCACTCAGT	0.463																																																1	Substitution - coding silent(1)	kidney(1)						C	,	0,4406		0,0,2203	54	57	56		156,204	2.5	1	4		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DMP1	NM_001079911.2,NM_004407.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	52/498,68/514	88583134	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1758			U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"dentin matrix acidic phosphoprotein"			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.204C>T	4.37:g.88583134C>T			A1L4L3|O43265	Silent	SNP	ENST00000339673.6	37	CCDS3623.1																																																																																				0.463	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			T	88583134	C	T	88583134	2	4	594	1	0	0	0	0	0	0	0	1	4585	477	17	2		2	DMP1	4	88583134	Silent	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	19857755	88583134	102571142	19	32463											
INTU	27152	broad.mit.edu;ucsc.edu	37	4	128632123	128632123	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr4:128632123C>A	ENST00000335251.6	+	14	2528	c.2425C>A	c.(2425-2427)Caa>Aaa	p.Q809K		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	809					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)		p.Q809K(1)		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						AGAAACAGTGCAAGGAATCTT	0.378																																																1	Substitution - Missense(1)	kidney(1)											116	108	111					4																	128632123		2203	4300	6503	SO:0001583	missense	27152			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.2425C>A	4.37:g.128632123C>A	ENSP00000334003:p.Gln809Lys		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544587	0.65198	.	.	ENSG00000164066	ENST00000335251	.	.	.	5.54	5.54	0.83059	.	0.060101	0.64402	D	0.000002	T	0.59715	0.2214	L	0.50919	1.6	0.80722	D	1	B	0.29988	0.264	B	0.28465	0.09	T	0.55982	-0.8054	9	0.37606	T	0.19	-13.3719	19.6745	0.95926	0.0:1.0:0.0:0.0	.	809	Q9ULD6	PDZD6_HUMAN	K	809	.	ENSP00000334003:Q809K	Q	+	1	0	INTU	128851573	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.547000	0.67249	2.880000	0.98712	0.650000	0.86243	CAA		0.378	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		A	128632123	C	A	128632123	3	1	594	1	0	0	0	0	1	0	0	0	7788	711	25	4	2479	4	INTU	4	128632123	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	40048989	128632123	62522153	20	32464											
ANKRD34B	340120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	79855596	79855596	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr5:79855596G>T	ENST00000338682.3	-	5	915	c.243C>A	c.(241-243)gaC>gaA	p.D81E		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	81						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D81E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCCCAGATTTGTCCTGTATGT	0.468																																																1	Substitution - Missense(1)	kidney(1)											165	161	163					5																	79855596		2203	4300	6503	SO:0001583	missense	340120				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.243C>A	5.37:g.79855596G>T	ENSP00000339802:p.Asp81Glu		B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183813	0.78677	.	.	ENSG00000189127	ENST00000338682	T	0.44881	0.91	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.63343	0.2503	M	0.75777	2.31	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	T	0.66056	-0.6018	10	0.87932	D	0	-18.6062	11.9814	0.53121	0.0795:0.0:0.9205:0.0	.	81	A5PLL1	AN34B_HUMAN	E	81	ENSP00000339802:D81E	ENSP00000339802:D81E	D	-	3	2	ANKRD34B	79891352	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.812000	0.62613	2.726000	0.93360	0.561000	0.74099	GAC		0.468	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		T	79855596	G	T	79855596	3	4	594	1	0	0	0	0	1	0	0	0	663	1368	48	4	1305	4	ANKRD34B	5	79855596	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10		79855596	101059664	21	32465											
RASA1	5921	broad.mit.edu;hgsc.bcm.edu	37	5	86564707	86564707	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr5:86564707G>A	ENST00000274376.6	+	1	1003	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000506290.1_5'Flank|RASA1_ENST00000512763.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	147					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.G147R(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCCCCCTTTGGGGGCGGGCCT	0.622																																																1	Substitution - Missense(1)	kidney(1)											26	34	32					5																	86564707		2185	4272	6457	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.439G>A	5.37:g.86564707G>A	ENSP00000274376:p.Gly147Arg		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336601	0.41398	.	.	ENSG00000145715	ENST00000274376;ENST00000534133	T	0.72394	-0.65	4.07	3.2	0.36748	.	1.434360	0.04345	N	0.354667	T	0.51924	0.1703	N	0.08118	0	0.80722	D	1	B;B	0.34015	0.435;0.069	B;B	0.27170	0.077;0.023	T	0.30707	-0.9969	10	0.59425	D	0.04	.	9.0188	0.36186	0.1061:0.0:0.8939:0.0	.	180;147	Q59GK3;P20936	.;RASA1_HUMAN	R	147;180	ENSP00000274376:G147R	ENSP00000274376:G147R	G	+	1	0	RASA1	86600463	1.000000	0.71417	0.992000	0.48379	0.782000	0.44232	2.977000	0.49297	0.828000	0.34709	0.561000	0.74099	GGG		0.622	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		A	86564707	G	A	86564707	3	1	594	1	0	0	0	0	1	0	0	0	13066	1232	43	2	441	2	RASA1	5	86564707	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	6709111	86564707	94350553	22	32466											
KIF4B	285643	broad.mit.edu;hgsc.bcm.edu	37	5	154394373	154394373	+	Silent	SNP	C	C	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr5:154394373C>T	ENST00000435029.4	+	1	1114	c.954C>T	c.(952-954)tcC>tcT	p.S318S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	318	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.S318S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTGCTGACTCCAATCTAGAGG	0.428																																																2	Substitution - coding silent(2)	kidney(2)											207	207	207					5																	154394373		2203	4300	6503	SO:0001819	synonymous_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.954C>T	5.37:g.154394373C>T				Silent	SNP	ENST00000435029.4	37	CCDS47324.1																																																																																				0.428	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			T	154394373	C	T	154394373	2	4	594	1	0	0	0	0	0	0	0	1	8306	581	21	2		2	KIF4B	5	154394373	Silent	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	67829666	154394373	26520887	23	32467											
UBR2	23304	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	42637945	42637945	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr6:42637945T>A	ENST00000372899.1	+	35	4255	c.3997T>A	c.(3997-3999)Tgg>Agg	p.W1333R	UBR2_ENST00000372901.1_Missense_Mutation_p.W1333R|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1333					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W1333R(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CATAATGTGTTGGGGTAGCTG	0.418																																																1	Substitution - Missense(1)	kidney(1)											143	122	129					6																	42637945		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3997T>A	6.37:g.42637945T>A	ENSP00000361990:p.Trp1333Arg		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652157	0.88056	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.61040	0.14;0.14	5.36	5.36	0.76844	.	0.114965	0.64402	D	0.000005	T	0.70237	0.3201	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.70941	-0.4735	10	0.33141	T	0.24	-0.0571	15.3602	0.74469	0.0:0.0:0.0:1.0	.	1333;1333	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	R	1333	ENSP00000361990:W1333R;ENSP00000361992:W1333R	ENSP00000361990:W1333R	W	+	1	0	UBR2	42745923	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.027000	0.59764	0.533000	0.62120	TGG		0.418	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		A	42637945	T	A	42637945	3	1	594	1	0	0	0	0	1	0	0	0	16907	1812	63	5	4281	5	UBR2	6	42637945	Missense_Mutation	SNP	T	TCGA-CZ-5462-01A-01D-1501-10		42637945	128477122	24	32468											
ASCC3	10973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	101110412	101110412	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr6:101110412C>T	ENST00000369162.2	-	15	2631	c.2287G>A	c.(2287-2289)Gta>Ata	p.V763I		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	763	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.V763I(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GACCTTTGTACCTAGATACCA	0.323																																																1	Substitution - Missense(1)	kidney(1)											64	63	63					6																	101110412		2203	4298	6501	SO:0001630	splice_region_variant	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2287-1G>A	6.37:g.101110412C>T			E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	4.537	0.099757	0.08681	.	.	ENSG00000112249	ENST00000369162	T	0.42131	0.98	5.26	5.26	0.73747	Helicase, C-terminal (1);	0.323978	0.28307	N	0.015834	T	0.15132	0.0365	N	0.16130	0.375	0.80722	D	1	B	0.14012	0.009	B	0.16722	0.016	T	0.09079	-1.0691	10	0.13108	T	0.6	.	19.2367	0.93864	0.0:1.0:0.0:0.0	.	763	Q8N3C0	HELC1_HUMAN	I	763	ENSP00000358159:V763I	ENSP00000358159:V763I	V	-	1	0	ASCC3	101217133	1.000000	0.71417	0.861000	0.33841	0.087000	0.18053	2.337000	0.43947	2.616000	0.88540	0.650000	0.86243	GTA		0.323	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	Missense_Mutation	T	101110412	C	T	101110412	5	4	594	1	0	0	0	0	0	0	1	0	1033	521	18	2	4433	2	ASCC3	6	101110412	Splice_Site	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	58472467	101110412	70004655	25	32469											
HACE1	57531	broad.mit.edu;ucsc.edu	37	6	105233140	105233140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr6:105233140C>A	ENST00000262903.4	-	12	1405	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	HACE1_ENST00000369125.2_Nonsense_Mutation_p.E377*|HACE1_ENST00000517995.1_5'Flank	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	377					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.E377*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCATCAATTCTGTGGCTATT	0.363																																																1	Substitution - Nonsense(1)	kidney(1)											72	73	73					6																	105233140		2203	4300	6503	SO:0001587	stop_gained	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1129G>T	6.37:g.105233140C>A	ENSP00000262903:p.Glu377*		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Nonsense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	42	9.493538	0.99186	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	18.5104	0.90914	0.0:1.0:0.0:0.0	.	.	.	.	X	377	.	ENSP00000262903:E377X	E	-	1	0	HACE1	105339833	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.151000	0.77411	2.375000	0.81037	0.460000	0.39030	GAA		0.363	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		A	105233140	C	A	105233140	4	1	594	1	0	0	0	0	0	1	0	0	6942	922	32	4	1652	4	HACE1	6	105233140	Nonsense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	4122728	105233140	65881927	26	32470											
LAMA2	3908	hgsc.bcm.edu;ucsc.edu	37	6	129419358	129419358	+	Frame_Shift_Del	DEL	C	C	-	rs143680577	byFrequency	TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr6:129419358delC	ENST00000421865.2	+	4	486	c.437delC	c.(436-438)tccfs	p.S146fs		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	146	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCAGCTAACTCCCCCCGGCCT	0.443																																																0													109	101	104					6																	129419358		2203	4300	6503	SO:0001589	frameshift_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.437delC	6.37:g.129419358delC	ENSP00000400365:p.Ser146fs		Q14736|Q5VUM2|Q93022	Frame_Shift_Del	DEL	ENST00000421865.2	37	CCDS5138.1																																																																																				0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			-	129419358	C	-	129419358	7	5	594	1	0	1	0	1	0	0	0	0	8608	855	30	0	451	0	LAMA2	6	129419358	Frame_Shift_Del	DEL	C	TCGA-CZ-5462-01A-01D-1501-10	24186218	129419358	41695709	27	32471											
ETV1	2115	broad.mit.edu;ucsc.edu	37	7	13975450	13975450	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr7:13975450G>A	ENST00000430479.1	-	8	1104	c.437C>T	c.(436-438)tCc>tTc	p.S146F	ETV1_ENST00000242066.5_Missense_Mutation_p.S128F|ETV1_ENST00000405192.2_Missense_Mutation_p.S146F|ETV1_ENST00000343495.5_Missense_Mutation_p.S128F|ETV1_ENST00000405218.2_Missense_Mutation_p.S146F|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000420159.2_Missense_Mutation_p.S88F|ETV1_ENST00000405358.4_Missense_Mutation_p.S160F|ETV1_ENST00000403685.1_Missense_Mutation_p.S128F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000403527.1_Missense_Mutation_p.S106F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	146					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S146F(1)|p.S106F(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATGCAGTGGGGACACTGGCGT	0.562			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																		Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	2	Substitution - Missense(2)	kidney(2)											152	156	154					7																	13975450		2121	4256	6377	SO:0001583	missense	2115				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.437C>T	7.37:g.13975450G>A	ENSP00000405327:p.Ser146Phe		A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838353	0.91117	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956	T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.83	5.83	0.93111	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.241030	0.43260	D	0.000598	T	0.52996	0.1769	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.961;0.999;0.994;0.998;0.989;1.0	D;P;D;D;D;P;D	0.91635	0.999;0.81;0.998;0.989;0.996;0.88;0.997	T	0.49418	-0.8942	10	0.62326	D	0.03	.	20.189	0.98225	0.0:0.0:1.0:0.0	.	157;128;160;88;106;88;146	Q59GA7;P50549-2;B5MCT2;F5GXR2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;ETV1_HUMAN	F	146;128;128;88;146;160;106;146;128;88	ENSP00000405327:S146F;ENSP00000242066:S128F;ENSP00000340853:S128F;ENSP00000411626:S88F;ENSP00000385381:S146F;ENSP00000384085:S160F;ENSP00000384138:S106F;ENSP00000385551:S146F;ENSP00000385686:S128F;ENSP00000393078:S88F	ENSP00000242066:S128F	S	-	2	0	ETV1	13941975	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.417000	0.97391	2.787000	0.95880	0.650000	0.86243	TCC		0.562	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		A	13975450	G	A	13975450	3	1	594	1	0	0	0	0	1	0	0	0	5279	1174	41	2	1024	2	ETV1	7	13975450	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10		13975450	145163213	28	32472											
AMPH	273	broad.mit.edu;ucsc.edu	37	7	38431539	38431539	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr7:38431539G>A	ENST00000356264.2	-	19	1903	c.1688C>T	c.(1687-1689)gCa>gTa	p.A563V	AMPH_ENST00000428293.2_Missense_Mutation_p.A521V|AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000325590.5_Missense_Mutation_p.A521V	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	563					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.A563V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTTGGGCTCTGCACCTATAGT	0.592																																																1	Substitution - Missense(1)	kidney(1)											70	67	68					7																	38431539		2203	4300	6503	SO:0001583	missense	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1688C>T	7.37:g.38431539G>A	ENSP00000348602:p.Ala563Val		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579178	0.46006	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	T;T;T	0.61392	0.12;0.11;0.11	5.42	4.52	0.55395	.	0.641937	0.14536	N	0.313551	T	0.43100	0.1232	N	0.24115	0.695	0.18873	N	0.999988	B;B;B	0.27416	0.178;0.037;0.025	B;B;B	0.21708	0.036;0.016;0.02	T	0.25012	-1.0144	10	0.33940	T	0.23	-2.1666	13.3885	0.60809	0.0:0.1974:0.8026:0.0	.	521;563;451	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	V	521;563;521;465	ENSP00000317441:A521V;ENSP00000348602:A563V;ENSP00000390734:A521V	ENSP00000317441:A521V	A	-	2	0	AMPH	38398064	0.005000	0.15991	0.142000	0.22268	0.127000	0.20565	1.298000	0.33412	2.545000	0.85829	0.591000	0.81541	GCA		0.592	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		A	38431539	G	A	38431539	3	1	594	1	0	0	0	0	1	0	0	0	588	1319	46	2	411	2	AMPH	7	38431539	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	24456089	38431539	120707124	29	32473											
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48314043	48314043	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr7:48314043G>A	ENST00000435803.1	+	17	4804	c.4780G>A	c.(4780-4782)Ggc>Agc	p.G1594S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1594					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G1539S(1)|p.G1594S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAACAGTGTAGGCAATTCCAT	0.323																																																2	Substitution - Missense(2)	kidney(2)											138	138	138					7																	48314043		1846	4086	5932	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4780G>A	7.37:g.48314043G>A	ENSP00000411096:p.Gly1594Ser		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356479	0.24598	.	.	ENSG00000179869	ENST00000435803	D	0.85258	-1.96	5.37	1.31	0.21738	.	0.147924	0.32015	N	0.006715	D	0.84924	0.5580	M	0.64997	1.995	0.09310	N	1	D	0.57257	0.979	P	0.55087	0.768	T	0.75010	-0.3468	9	.	.	.	.	4.4699	0.11706	0.2383:0.3404:0.4213:0.0	.	1594	Q86UQ4	ABCAD_HUMAN	S	1594	ENSP00000411096:G1594S	.	G	+	1	0	ABCA13	48284589	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-0.032000	0.12266	0.285000	0.22329	0.563000	0.77884	GGC		0.323	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		A	48314043	G	A	48314043	3	1	594	1	0	0	0	0	1	0	0	0	31	1000	35	2	4675	2	ABCA13	7	48314043	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	9882504	48314043	110824620	30	32474											
GTF2I	2969	broad.mit.edu	37	7	74167453	74167453	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr7:74167453T>A	ENST00000324896.4	+	29	2974	c.2585T>A	c.(2584-2586)gTt>gAt	p.V862D	GTF2I_ENST00000346152.4_Missense_Mutation_p.V841D|GTF2I_ENST00000416070.1_Missense_Mutation_p.V821D|GTF2I_ENST00000353920.4_Missense_Mutation_p.V842D	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	862					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V862D(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CTCTCGAAAGTTGAAAAAGCT	0.328																																																1	Substitution - Missense(1)	kidney(1)											10	10	10					7																	74167453		2115	4208	6323	SO:0001583	missense	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.2585T>A	7.37:g.74167453T>A	ENSP00000322542:p.Val862Asp		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362304	0.61403	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.39592	1.08;1.07;1.07;1.07	4.99	4.99	0.66335	.	0.186863	0.36167	N	0.002742	T	0.46814	0.1412	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.987;0.996;0.999;0.992	D;P;D;D;D	0.85130	0.993;0.908;0.988;0.997;0.963	T	0.50742	-0.8792	10	0.87932	D	0	-12.1141	6.3424	0.21330	0.0:0.0838:0.1597:0.7564	.	840;821;842;841;862	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	D	862;857;842;841;821	ENSP00000322542:V862D;ENSP00000322671:V842D;ENSP00000322599:V841D;ENSP00000387651:V821D	ENSP00000322542:V862D	V	+	2	0	GTF2I	73805389	0.998000	0.40836	0.995000	0.50966	0.986000	0.74619	3.368000	0.52357	1.913000	0.55393	0.369000	0.22263	GTT		0.328	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		A	74167453	T	A	74167453	3	1	594	1	0	0	0	0	1	0	0	0	6869	1725	60	5	2695	5	GTF2I	7	74167453	Missense_Mutation	SNP	T	TCGA-CZ-5462-01A-01D-1501-10	25853410	74167453	84971210	31	32475											
ZAN	7455	hgsc.bcm.edu;ucsc.edu	37	7	100386875	100386875	+	RNA	DEL	A	A	-			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr7:100386875delA	ENST00000348028.3	+	0	7427				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTACAGGCCAAATGAACACC	0.562																																																0													64	67	66					7																	100386875		1905	4127	6032			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100386875delA			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	ENST00000348028.3	37																																																																																					0.562	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		-	100386875	A	-	100386875	6	5	594	0	1	1	0	1	0	0	0	0	17518	117	5	0		0	ZAN	7	100386875	RNA	DEL	A	TCGA-CZ-5462-01A-01D-1501-10	26219422	100386875	58751788	32	32476											
PIK3CG	5294	broad.mit.edu;ucsc.edu	37	7	106509653	106509653	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr7:106509653C>A	ENST00000359195.3	+	2	1957	c.1647C>A	c.(1645-1647)aaC>aaA	p.N549K	PIK3CG_ENST00000440650.2_Missense_Mutation_p.N549K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.N549K	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	549	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N549K(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAATGCCCAACCAGCTTCGCA	0.532																																																1	Substitution - Missense(1)	kidney(1)											78	73	75					7																	106509653		2203	4300	6503	SO:0001583	missense	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1647C>A	7.37:g.106509653C>A	ENSP00000352121:p.Asn549Lys		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876281	0.33162	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.62639	0.01;0.01;0.01	5.81	0.319	0.15873	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.082018	0.85682	D	0.000000	T	0.43656	0.1257	L	0.27053	0.805	0.58432	D	0.999998	B	0.30236	0.274	B	0.34346	0.18	T	0.23726	-1.0180	10	0.06625	T	0.88	-38.894	12.164	0.54119	0.0:0.6852:0.0:0.3148	.	549	P48736	PK3CG_HUMAN	K	549	ENSP00000392258:N549K;ENSP00000419260:N549K;ENSP00000352121:N549K	ENSP00000352121:N549K	N	+	3	2	PIK3CG	106296889	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.308000	0.33528	0.106000	0.17784	-0.136000	0.14681	AAC		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			A	106509653	C	A	106509653	3	1	594	1	0	0	0	0	1	0	0	0	11918	506	18	4	1649	4	PIK3CG	7	106509653	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	6122778	106509653	52629010	33	32477											
PLXNA4	91584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	131982903	131982903	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr7:131982903C>A	ENST00000359827.3	-	4	2412	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D484Y			Q9HCM2	PLXA4_HUMAN	plexin A4	484	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.D484Y(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGGCCATATCCCGGAGGACT	0.577																																																2	Substitution - Missense(2)	kidney(2)											73	79	77					7																	131982903		1956	4141	6097	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1450G>T	7.37:g.131982903C>A	ENSP00000352882:p.Asp484Tyr		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901007	0.92035	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.11495	2.77;2.77	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.31613	-0.9937	10	0.62326	D	0.03	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	484	Q9HCM2	PLXA4_HUMAN	Y	484	ENSP00000323194:D484Y;ENSP00000352882:D484Y	ENSP00000323194:D484Y	D	-	1	0	PLXNA4	131633443	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	7.222000	0.78025	2.873000	0.98535	0.561000	0.74099	GAT		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		A	131982903	C	A	131982903	3	1	594	1	0	0	0	0	1	0	0	0	12124	855	30	4	4350	4	PLXNA4	7	131982903	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	25473250	131982903	27155760	34	32478											
CHD7	55636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	61732614	61732614	+	Missense_Mutation	SNP	A	A	T	rs372474695		TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr8:61732614A>T	ENST00000423902.2	+	9	3141	c.2662A>T	c.(2662-2664)Atg>Ttg	p.M888L	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.M888L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	888	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.M888L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGACCGGATAATGGACTTTGC	0.388																																																2	Substitution - Missense(2)	kidney(2)											119	116	117					8																	61732614		1887	4105	5992	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2662A>T	8.37:g.61732614A>T	ENSP00000392028:p.Met888Leu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	4.985	0.182992	0.09495	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	T;T	0.61392	0.11;0.11	5.91	4.71	0.59529	Chromo domain (1);Chromo domain/shadow (2);	0.128928	0.52532	D	0.000061	T	0.10852	0.0265	N	0.00012	-2.96	0.36597	D	0.87443	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.47249	-0.9132	10	0.02654	T	1	-10.7461	9.801	0.40764	0.7119:0.1898:0.0:0.0984	.	888;888	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	L	888	ENSP00000392028:M888L;ENSP00000436027:M888L	ENSP00000307304:M888L	M	+	1	0	CHD7	61895168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.996000	0.49449	2.252000	0.74401	0.533000	0.62120	ATG		0.388	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		T	61732614	A	T	61732614	3	4	594	1	0	0	0	0	1	0	0	0	3332	101	4	5	2692	5	CHD7	8	61732614	Missense_Mutation	SNP	A	TCGA-CZ-5462-01A-01D-1501-10		61732614	84631408	35	32479											
NOV	4856	broad.mit.edu;ucsc.edu	37	8	120435157	120435157	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr8:120435157T>A	ENST00000259526.3	+	5	1086	c.859T>A	c.(859-861)Tac>Aac	p.Y287N	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.Y287N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			CCTGCACACCTACAAGCCCAG	0.512																																																1	Substitution - Missense(1)	kidney(1)											86	86	86					8																	120435157		2203	4300	6503	SO:0001583	missense	4856			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.859T>A	8.37:g.120435157T>A	ENSP00000259526:p.Tyr287Asn			Missense_Mutation	SNP	ENST00000259526.3	37	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.268550	0.80469	.	.	ENSG00000136999	ENST00000259526	T	0.51325	0.71	5.85	5.85	0.93711	Cystine knot (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	M	0.88979	2.995	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.79895	-0.1610	10	0.87932	D	0	-34.3665	16.2268	0.82300	0.0:0.0:0.0:1.0	.	287	P48745	NOV_HUMAN	N	287	ENSP00000259526:Y287N	ENSP00000259526:Y287N	Y	+	1	0	NOV	120504338	1.000000	0.71417	0.995000	0.50966	0.482000	0.33219	8.040000	0.89188	2.235000	0.73313	0.528000	0.53228	TAC		0.512	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		A	120435157	T	A	120435157	3	1	594	1	0	0	0	0	1	0	0	0	10555	1522	53	5	877	5	NOV	8	120435157	Missense_Mutation	SNP	T	TCGA-CZ-5462-01A-01D-1501-10	58702543	120435157	25928865	36	32480											
TMEM71	137835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	133764200	133764200	+	Missense_Mutation	SNP	C	C	T	rs200344505		TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr8:133764200C>T	ENST00000356838.3	-	4	287	c.145G>A	c.(145-147)Ggc>Agc	p.G49S	TMEM71_ENST00000377901.4_Missense_Mutation_p.G49S|TMEM71_ENST00000523829.1_Missense_Mutation_p.G49S|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	49						integral component of membrane (GO:0016021)		p.G49S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCTATGGAGCCGCATTCAAAA	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18569	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											82	81	81					8																	133764200		2203	4300	6503	SO:0001583	missense	137835			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.145G>A	8.37:g.133764200C>T	ENSP00000349296:p.Gly49Ser		Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	CCDS6366.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.760	0.509168	0.12883	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000519187;ENST00000519304	.	.	.	5.8	-1.01	0.10169	.	0.449134	0.26553	N	0.023721	T	0.16041	0.0386	N	0.22421	0.69	0.22156	N	0.999321	B;B;B	0.18968	0.032;0.003;0.001	B;B;B	0.08055	0.003;0.003;0.002	T	0.10200	-1.0640	9	0.22706	T	0.39	-1.0508	1.9464	0.03358	0.4925:0.2525:0.1338:0.1212	.	49;49;49	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	S	49	.	ENSP00000349296:G49S	G	-	1	0	TMEM71	133833382	1.000000	0.71417	0.694000	0.30210	0.012000	0.07955	0.868000	0.27982	-0.374000	0.07967	-2.922000	0.00089	GGC		0.458	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		T	133764200	C	T	133764200	3	4	594	1	0	0	0	0	1	0	0	0	16205	652	23	1	770	1	TMEM71	8	133764200	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	13329043	133764200	12599822	37	32481											
ZFAT	57623	broad.mit.edu	37	8	135521987	135521987	+	Nonsense_Mutation	SNP	G	G	A	rs200421725		TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr8:135521987G>A	ENST00000377838.3	-	15	3541	c.3367C>T	c.(3367-3369)Cga>Tga	p.R1123*	ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.R1111*|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.R1111*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.R1061*|ZFAT_ENST00000520727.1_Nonsense_Mutation_p.R1111*	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1123					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R1123*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGGTCCAGTCGGTCGCCTTAA	0.597													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14795	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Nonsense(1)	kidney(1)											98	102	101					8																	135521987		2085	4205	6290	SO:0001587	stop_gained	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3367C>T	8.37:g.135521987G>A	ENSP00000367069:p.Arg1123*		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Nonsense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.89	3.248084	0.59103	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000521673;ENST00000318135;ENST00000523399	.	.	.	5.67	3.66	0.41972	.	0.294097	0.33477	N	0.004878	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9944	9.0481	0.36358	0.0:0.0981:0.5162:0.3856	.	.	.	.	X	1111;1111;1123;1111;43;1010;1061	.	ENSP00000326997:R1010X	R	-	1	2	ZFAT	135591169	1.000000	0.71417	0.988000	0.46212	0.373000	0.29922	2.283000	0.43470	0.677000	0.31305	0.557000	0.71058	CGA		0.597	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		A	135521987	G	A	135521987	4	1	594	1	0	0	0	0	0	1	0	0	17637	1124	39	1	372	1	ZFAT	8	135521987	Nonsense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	1757787	135521987	10842035	38	32482											
DMRT3	58524	hgsc.bcm.edu;ucsc.edu	37	9	990589	990589	+	Nonsense_Mutation	SNP	C	C	T	rs374319022		TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr9:990589C>T	ENST00000190165.2	+	2	1041	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	335					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ATCAGCCTTTCGAGTCCCAGA	0.577																																																0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	112	102	106		1003	0.2	0.3	9		106	0,8600		0,0,4300	no	stop-gained	DMRT3	NM_021240.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		335/473	990589	1,13005	2203	4300	6503	SO:0001587	stop_gained	58524			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1003C>T	9.37:g.990589C>T	ENSP00000190165:p.Arg335*		Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Nonsense_Mutation	SNP	ENST00000190165.2	37	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717208	0.89205	2.27E-4	0.0	ENSG00000064218	ENST00000190165	.	.	.	4.95	0.169	0.15017	.	0.206172	0.38720	N	0.001592	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6464	11.4219	0.49987	0.2857:0.6374:0.0768:0.0	.	.	.	.	X	335	.	ENSP00000190165:R335X	R	+	1	2	DMRT3	980589	0.951000	0.32395	0.282000	0.24776	0.978000	0.69477	0.261000	0.18442	-0.223000	0.09943	0.561000	0.74099	CGA		0.577	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		T	990589	C	T	990589	4	4	594	1	0	0	0	0	0	1	0	0	4589	876	31	1	1009	1	DMRT3	9	990589	Nonsense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10		990589	140222842	39	32483											
SYK	6850	broad.mit.edu;ucsc.edu	37	9	93636536	93636536	+	Silent	SNP	G	G	A	rs200697355		TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr9:93636536G>A	ENST00000375754.4	+	8	1114	c.966G>A	c.(964-966)ccG>ccA	p.P322P	SYK_ENST00000375746.1_Silent_p.P322P|SYK_ENST00000375747.1_Silent_p.P299P|SYK_ENST00000375751.4_Silent_p.P299P	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	322	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.P322P(1)|p.P299P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CATTCAATCCGTATGAGCCAG	0.468			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	2	Substitution - coding silent(2)	kidney(2)											96	90	92					9																	93636536		2203	4300	6503	SO:0001819	synonymous_variant	6850			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.966G>A	9.37:g.93636536G>A				Silent	SNP	ENST00000375754.4	37	CCDS6688.1																																																																																				0.468	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			A	93636536	G	A	93636536	2	1	594	1	0	0	0	0	0	0	0	1	15443	1132	40	1		1	SYK	9	93636536	Silent	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	92645947	93636536	47576895	40	32484											
AKNA	80709	broad.mit.edu;ucsc.edu	37	9	117139678	117139678	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr9:117139678C>T	ENST00000307564.4	-	3	570	c.409G>A	c.(409-411)Gct>Act	p.A137T	AKNA_ENST00000223791.3_5'Flank|AKNA_ENST00000374088.3_Missense_Mutation_p.A137T|AKNA_ENST00000312033.3_Missense_Mutation_p.A137T|AKNA_ENST00000374075.5_Missense_Mutation_p.A56T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	137					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A137T(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTCTCTCCAGCCTCCTCAACC	0.617																																																1	Substitution - Missense(1)	kidney(1)											41	38	39					9																	117139678		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.409G>A	9.37:g.117139678C>T	ENSP00000303769:p.Ala137Thr		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070016	0.55539	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.48836	2.06;2.06;2.06;0.8	4.58	-1.11	0.09840	.	1.433560	0.04781	N	0.429837	T	0.48040	0.1478	L	0.32530	0.975	0.09310	N	1	B;B;D	0.67145	0.046;0.056;0.996	B;B;P	0.58928	0.023;0.02;0.848	T	0.41215	-0.9521	10	0.29301	T	0.29	0.038	4.7604	0.13104	0.0:0.4183:0.2968:0.2848	.	137;137;56	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	T	137;137;56;137;137	ENSP00000303769:A137T;ENSP00000363201:A137T;ENSP00000363188:A56T;ENSP00000309222:A137T	ENSP00000303769:A137T	A	-	1	0	AKNA	116179499	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-1.359000	0.02602	-0.101000	0.12219	0.462000	0.41574	GCT		0.617	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		T	117139678	C	T	117139678	3	4	594	1	0	0	0	0	1	0	0	0	463	739	26	2	3990	2	AKNA	9	117139678	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	23503142	117139678	24073753	41	32485											
ECHDC3	79746	broad.mit.edu;ucsc.edu	37	10	11797428	11797428	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr10:11797428C>G	ENST00000379215.4	+	4	623	c.412C>G	c.(412-414)Cac>Gac	p.H138D	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	138						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)	p.H138D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CATCCGGAACCACCCCGTTCC	0.552																																																1	Substitution - Missense(1)	kidney(1)											73	52	59					10																	11797428		2203	4300	6503	SO:0001583	missense	79746			AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.412C>G	10.37:g.11797428C>G	ENSP00000368517:p.His138Asp		Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Missense_Mutation	SNP	ENST00000379215.4	37	CCDS7084.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449509	0.43531	.	.	ENSG00000134463	ENST00000379215;ENST00000420401;ENST00000422887	T;T;T	0.66995	1.99;0.98;-0.24	5.31	5.31	0.75309	Crotonase, core (1);	0.233546	0.43260	D	0.000594	T	0.79805	0.4509	L	0.54323	1.7	0.31527	N	0.661628	P	0.44195	0.828	D	0.72982	0.979	T	0.79797	-0.1652	10	0.45353	T	0.12	.	17.9543	0.89063	0.0:1.0:0.0:0.0	.	138	Q96DC8	ECHD3_HUMAN	D	138;191;65	ENSP00000368517:H138D;ENSP00000405584:H191D;ENSP00000398429:H65D	ENSP00000368517:H138D	H	+	1	0	ECHDC3	11837434	0.758000	0.28405	0.851000	0.33527	0.454000	0.32378	2.037000	0.41174	2.478000	0.83669	0.591000	0.81541	CAC		0.552	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693		G	11797428	C	G	11797428	3	3	594	1	0	0	0	0	1	0	0	0	4897	594	21	4	426	4	ECHDC3	10	11797428	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10		11797428	123737319	42	32486											
SFTPD	6441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	81702178	81702178	+	Silent	SNP	G	G	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr10:81702178G>A	ENST00000372292.3	-	4	439	c.399C>T	c.(397-399)ggC>ggT	p.G133G		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	133	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.G133G(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGCCTGGCTTGCCCTGAGGTC	0.597																																																1	Substitution - coding silent(1)	kidney(1)											93	84	87					10																	81702178		2203	4300	6503	SO:0001819	synonymous_variant	6441			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.399C>T	10.37:g.81702178G>A			Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Silent	SNP	ENST00000372292.3	37	CCDS7362.1																																																																																				0.597	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			A	81702178	G	A	81702178	2	1	594	1	0	0	0	0	0	0	0	1	14199	1306	46	2		2	SFTPD	10	81702178	Silent	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	69904750	81702178	53832569	43	32487											
CPXM2	119587	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	125526488	125526488	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr10:125526488C>T	ENST00000241305.3	-	10	1634		c.e10+1		CPXM2_ENST00000368854.3_Splice_Site	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTTTGACTCACCGTGGCATTT	0.468																																																1	Unknown(1)	kidney(1)											89	82	85					10																	125526488		2203	4300	6503	SO:0001630	splice_region_variant	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1479+1G>A	10.37:g.125526488C>T			B4E3Q2	Splice_Site	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479822	0.84747	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8309	0.88682	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPXM2	125516478	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.624000	0.83124	2.420000	0.82092	0.650000	0.86243	.		0.468	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	Intron	T	125526488	C	T	125526488	5	4	594	1	0	0	0	0	0	0	1	0	3840	521	18	2	810	2	CPXM2	10	125526488	Splice_Site	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	43824310	125526488	10008259	44	32488											
C11orf41	25758	hgsc.bcm.edu;ucsc.edu	37	11	33565134	33565134	+	Silent	SNP	C	C	T	rs78046896	byFrequency	TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr11:33565134C>T	ENST00000321505.4	+	1	1314	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	KIAA1549L_ENST00000389726.3_Silent_p.S378S|KIAA1549L_ENST00000265654.5_Silent_p.S378S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	378						integral component of membrane (GO:0016021)											CGCCCTCCTCCATGGATGTAT	0.478											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	32	0.00638978	0.0234	0.0014	5008	,	,		20755	0.0		0.0	False		,,,				2504	0.0															0								C		72,3788		0,72,1858	41	40	41		1134	1	0.7	11	dbSNP_131	41	1,8263		0,1,4131	no	coding-synonymous	C11orf41	NM_012194.2		0,73,5989	TT,TC,CC		0.0121,1.8653,0.6021		378/1850	33565134	73,12051	1930	4132	6062	SO:0001819	synonymous_variant	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1134C>T	11.37:g.33565134C>T		841	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2																																																																																				0.478	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		T	33565134	C	T	33565134	2	4	594	1	0	0	0	0	0	0	0	1	1642	581	21	2		2	C11orf41	11	33565134	Silent	SNP	C	TCGA-CZ-5462-01A-01D-1501-10		33565134	101441382	45	32489											
PRPF19	27339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60671329	60671329	+	Silent	SNP	A	A	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr11:60671329A>T	ENST00000227524.4	-	2	229	c.24T>A	c.(22-24)tcT>tcA	p.S8S	RP11-881M11.2_ENST00000544421.1_RNA	NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.S8S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GCACTTCGTTAGAGACTGTAG	0.512																																																1	Substitution - coding silent(1)	kidney(1)											76	73	74					11																	60671329		2203	4299	6502	SO:0001819	synonymous_variant	27339			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.24T>A	11.37:g.60671329A>T				Silent	SNP	ENST00000227524.4	37	CCDS7995.1																																																																																				0.512	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		T	60671329	A	T	60671329	2	4	594	1	0	0	0	0	0	0	0	1	12569	407	15	5		5	PRPF19	11	60671329	Silent	SNP	A	TCGA-CZ-5462-01A-01D-1501-10	27106195	60671329	74335187	46	32490											
DDB1	1642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61081631	61081632	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr11:61081631_61081632TC>AT	ENST00000301764.7	-	14	2037_2038	c.1640_1641GA>AT	c.(1639-1641)gGA>gAT	p.G547D	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	547	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.G547E(1)|p.G547G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CATTGCTGTCTCCTAATGGGGT	0.49								Nucleotide excision repair (NER)																																								2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1640_1641delinsAT	11.37:g.61081631_61081632delinsAT	ENSP00000301764:p.Gly547Asp		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent|Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1																																																																																				0.49	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		AT	61081632	TC	AT	61081631	3	1	594	1	0	0	0	0	1	0	0	0	4325	1538	54	5	1837	5	DDB1	11	61081631	Missense_Mutation	DNP	TC	TCGA-CZ-5462-01A-01D-1501-10	410302	61081631	73924885	47	32491											
ANO1	55107	hgsc.bcm.edu;ucsc.edu	37	11	70017025	70017025	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr11:70017025G>A	ENST00000355303.5	+	22	2535	c.2230G>A	c.(2230-2232)Gcc>Acc	p.A744T	ANO1_ENST00000531349.1_Missense_Mutation_p.A453T|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000538023.1_Missense_Mutation_p.A744T|ANO1_ENST00000530676.1_Missense_Mutation_p.A598T|ANO1_ENST00000398543.2_Missense_Mutation_p.A598T	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	744					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCTGTTTGTCGCCTCCTTCCC	0.597																																																0													66	74	71					11																	70017025		2122	4234	6356	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2230G>A	11.37:g.70017025G>A	ENSP00000347454:p.Ala744Thr		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704634	0.88924	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.39	4.39	0.52855	.	0.113833	0.64402	D	0.000017	D	0.83959	0.5367	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	D	0.86989	0.2109	9	.	.	.	.	17.3611	0.87350	0.0:0.0:1.0:0.0	.	453;744	E9PNA7;Q5XXA6	.;ANO1_HUMAN	T	744;744;598;502;598;453;71	ENSP00000347454:A744T;ENSP00000444689:A744T;ENSP00000381551:A598T;ENSP00000435797:A598T;ENSP00000432843:A453T	.	A	+	1	0	ANO1	69694673	1.000000	0.71417	0.714000	0.30535	0.749000	0.42624	9.553000	0.98118	2.185000	0.69588	0.462000	0.41574	GCC		0.597	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		A	70017025	G	A	70017025	3	1	594	1	0	0	0	0	1	0	0	0	695	1087	38	1	2316	1	ANO1	11	70017025	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	8935394	70017025	64989491	48	32492											
BIRC2	329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	102221673	102221673	+	Splice_Site	SNP	A	A	G			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr11:102221673A>G	ENST00000227758.2	+	3	2393	c.994A>G	c.(994-996)Agg>Ggg	p.R332G	BIRC2_ENST00000532672.1_Splice_Site_p.R311G|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Splice_Site_p.R283G	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	332					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R332G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTGGTTTCCAAGGTAATTGTT	0.378																																																1	Substitution - Missense(1)	kidney(1)											261	248	252					11																	102221673		2203	4299	6502	SO:0001630	splice_region_variant	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.995+1A>G	11.37:g.102221673A>G			B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136312	0.37728	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T	0.72167	-0.63;-0.63;-0.63	5.86	5.86	0.93980	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.80763	0.4685	L	0.54863	1.705	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.78795	-0.2064	10	0.33940	T	0.23	-21.8413	16.2668	0.82588	1.0:0.0:0.0:0.0	.	332	Q13490	BIRC2_HUMAN	G	283;332;332;311	ENSP00000431723:R283G;ENSP00000227758:R332G;ENSP00000434979:R311G	ENSP00000227758:R332G	R	+	1	2	BIRC2	101726883	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.570000	0.67398	2.240000	0.73641	0.533000	0.62120	AGG		0.378	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166	Missense_Mutation	G	102221673	A	G	102221673	5	3	594	1	0	0	0	0	0	0	1	0	1435	86	3	3	1000	3	BIRC2	11	102221673	Splice_Site	SNP	A	TCGA-CZ-5462-01A-01D-1501-10	32204648	102221673	32784843	49	32493											
RAPGEF3	10411	broad.mit.edu;ucsc.edu	37	12	48137448	48137448	+	Missense_Mutation	SNP	T	T	C	rs368286046	byFrequency	TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr12:48137448T>C	ENST00000449771.2	-	18	1778	c.1690A>G	c.(1690-1692)Atc>Gtc	p.I564V	RAPGEF3_ENST00000405493.2_Missense_Mutation_p.I522V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.I522V|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.I564V|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.I522V			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	564					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.I522V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGCCGGCAGATGTCATAGGGG	0.612													T|||	2	0.000399361	0.0015	0.0	5008	,	,		20152	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						T	VAL/ILE,VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	56	48	51		1690,1564,1564	4.1	1	12		51	0,8600		0,0,4300	no	missense,missense,missense	RAPGEF3	NM_001098531.2,NM_001098532.2,NM_006105.5	29,29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign	564/924,522/882,522/882	48137448	1,13005	2203	4300	6503	SO:0001583	missense	10411			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1690A>G	12.37:g.48137448T>C	ENSP00000395708:p.Ile564Val		A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	T	1.034	-0.681057	0.03353	2.27E-4	0.0	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212	T;T;T;T;T	0.61627	0.12;0.09;0.12;0.12;0.09	5.27	4.12	0.48240	Ras guanine nucleotide exchange factor, domain (1);	0.054462	0.64402	D	0.000001	T	0.34978	0.0916	N	0.16656	0.425	0.42039	D	0.991064	P	0.45044	0.849	B	0.42386	0.386	T	0.41142	-0.9525	10	0.02654	T	1	.	8.833	0.35096	0.0:0.0892:0.0:0.9108	.	564	O95398	RPGF3_HUMAN	V	522;564;211;522;522;522;564	ENSP00000384521:I522V;ENSP00000395708:I564V;ENSP00000448619:I522V;ENSP00000171000:I522V;ENSP00000373864:I564V	ENSP00000171000:I522V	I	-	1	0	RAPGEF3	46423715	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	1.900000	0.39828	2.136000	0.66102	0.533000	0.62120	ATC		0.612	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		C	48137448	T	C	48137448	3	2	594	1	0	0	0	0	1	0	0	0	13051	1464	51	3	1125	3	RAPGEF3	12	48137448	Missense_Mutation	SNP	T	TCGA-CZ-5462-01A-01D-1501-10		48137448	85714447	50	32494											
MYCBP2	23077	hgsc.bcm.edu	37	13	77714290	77714290	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr13:77714290delT	ENST00000544440.2	-	51	7313	c.7296delA	c.(7294-7296)aaafs	p.K2432fs	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Frame_Shift_Del_p.K2470fs|MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K2432fs					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGGCCACAAATTTTCGAACCT	0.423																																																0													62	60	61					13																	77714290		2203	4300	6503	SO:0001589	frameshift_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7296delA	13.37:g.77714290delT	ENSP00000444596:p.Lys2432fs			Frame_Shift_Del	DEL	ENST00000544440.2	37																																																																																					0.423	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		-	77714290	T	-	77714290	7	5	594	1	0	1	0	1	0	0	0	0	10020	1490	52	0	6758	0	MYCBP2	13	77714290	Frame_Shift_Del	DEL	T	TCGA-CZ-5462-01A-01D-1501-10		77714290	37455588	51	32495											
FAM70B	348013	broad.mit.edu;hgsc.bcm.edu	37	13	114514719	114514719	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr13:114514719G>A	ENST00000375353.3	+	9	851	c.824G>A	c.(823-825)cGc>cAc	p.R275H	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	275	Pro-rich.					integral component of membrane (GO:0016021)		p.R275H(1)									CCCTGCAGCCGCTTCCCAGTT	0.652																																																1	Substitution - Missense(1)	kidney(1)											41	46	45					13																	114514719		2203	4300	6503	SO:0001583	missense	0			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.824G>A	13.37:g.114514719G>A	ENSP00000364502:p.Arg275His			Missense_Mutation	SNP	ENST00000375353.3	37	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	G	6.602	0.479534	0.12581	.	.	ENSG00000184497	ENST00000375353	T	0.43294	0.95	4.13	-4.37	0.03633	.	.	.	.	.	T	0.21962	0.0529	N	0.22421	0.69	0.09310	N	1	D	0.56746	0.977	B	0.41619	0.361	T	0.31166	-0.9953	9	0.15066	T	0.55	1.2582	8.4507	0.32869	0.3359:0.5458:0.1183:0.0	.	275	Q8WV15	FA70B_HUMAN	H	275	ENSP00000364502:R275H	ENSP00000364502:R275H	R	+	2	0	FAM70B	113599224	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.159000	0.03150	-0.548000	0.06199	0.585000	0.79938	CGC		0.652	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		A	114514719	G	A	114514719	3	1	594	1	0	0	0	0	1	0	0	0	5608	1087	38	1	858	1	FAM70B	13	114514719	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	36800429	114514719	655159	52	32496											
SEC23A	10484	hgsc.bcm.edu;ucsc.edu	37	14	39502467	39502467	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr14:39502467delT	ENST00000307712.6	-	20	2791	c.2274delA	c.(2272-2274)aaafs	p.K758fs	SEC23A_ENST00000536508.1_Frame_Shift_Del_p.K656fs|SEC23A_ENST00000537403.1_Frame_Shift_Del_p.K556fs|SEC23A_ENST00000545328.2_Frame_Shift_Del_p.K729fs	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	758					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ACACAGCAAGTTTCTTCAAGT	0.313																																																0													103	108	106					14																	39502467		2203	4299	6502	SO:0001589	frameshift_variant	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.2274delA	14.37:g.39502467delT	ENSP00000306881:p.Lys758fs		B2R5P4|B3KXI2|Q8NE16	Frame_Shift_Del	DEL	ENST00000307712.6	37	CCDS9668.1																																																																																				0.313	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			-	39502467	T	-	39502467	7	5	594	1	0	1	0	1	0	0	0	0	13997	1722	60	0	27	0	SEC23A	14	39502467	Frame_Shift_Del	DEL	T	TCGA-CZ-5462-01A-01D-1501-10		39502467	67847073	53	32497											
PCNX	22990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	71514655	71514655	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr14:71514655A>C	ENST00000304743.2	+	22	4738	c.4292A>C	c.(4291-4293)gAg>gCg	p.E1431A	PCNX_ENST00000238570.5_Missense_Mutation_p.E1431A|PCNX_ENST00000439984.3_Missense_Mutation_p.E1320A	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1431						integral component of membrane (GO:0016021)		p.E1431A(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCTTTTTCAGAGACCATGCTG	0.358																																																1	Substitution - Missense(1)	kidney(1)											149	136	141					14																	71514655		2202	4299	6501	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4292A>C	14.37:g.71514655A>C	ENSP00000304192:p.Glu1431Ala		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892657	0.72524	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.13420	2.99;2.94;2.59	5.41	5.41	0.78517	.	0.098661	0.64402	D	0.000002	T	0.43211	0.1237	M	0.86343	2.81	0.80722	D	1	D;D;D	0.71674	0.998;0.987;0.997	D;P;D	0.78314	0.991;0.798;0.98	T	0.46275	-0.9203	10	0.48119	T	0.1	.	15.7411	0.77899	1.0:0.0:0.0:0.0	.	1431;1320;1431	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	A	1431;1431;1320	ENSP00000304192:E1431A;ENSP00000238570:E1431A;ENSP00000396617:E1320A	ENSP00000238570:E1431A	E	+	2	0	PCNX	70584408	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	2.171000	0.68590	0.533000	0.62120	GAG		0.358	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		C	71514655	A	C	71514655	3	2	594	1	0	0	0	0	1	0	0	0	11593	304	11	5	4378	5	PCNX	14	71514655	Missense_Mutation	SNP	A	TCGA-CZ-5462-01A-01D-1501-10	32012188	71514655	35834885	54	32498											
ADAM10	102	broad.mit.edu;ucsc.edu	37	15	58925453	58925453	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr15:58925453G>T	ENST00000260408.3	-	9	1561	c.1118C>A	c.(1117-1119)cCt>cAt	p.P373H	ADAM10_ENST00000396140.2_Missense_Mutation_p.P72H|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.P373H(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		GACTTTGGGAGGTACATGAGA	0.343																																																1	Substitution - Missense(1)	kidney(1)											103	100	101					15																	58925453		2192	4292	6484	SO:0001583	missense	102			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1118C>A	15.37:g.58925453G>T	ENSP00000260408:p.Pro373His		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774577	0.90108	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	D;D	0.86694	-2.16;-2.16	5.82	5.82	0.92795	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.93294	0.7863	M	0.72353	2.195	0.80722	D	1	D;D	0.71674	0.998;0.992	D;D	0.73380	0.98;0.979	D	0.93106	0.6512	10	0.66056	D	0.02	-14.0967	20.099	0.97865	0.0:0.0:1.0:0.0	.	72;373	B4DU28;O14672	.;ADA10_HUMAN	H	373;192;72	ENSP00000260408:P373H;ENSP00000379444:P72H	ENSP00000260408:P373H	P	-	2	0	ADAM10	56712745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.752000	0.94435	0.655000	0.94253	CCT		0.343	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		T	58925453	G	T	58925453	3	4	594	1	0	0	0	0	1	0	0	0	234	1000	35	4	1160	4	ADAM10	15	58925453	Missense_Mutation	SNP	G	TCGA-CZ-5462-01A-01D-1501-10		58925453	43605939	55	32499											
ACSBG1	23205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78526760	78526760	+	Silent	SNP	G	G	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr15:78526760G>A	ENST00000258873.4	-	1	289	c.84C>T	c.(82-84)agC>agT	p.S28S	ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	28					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.S28S(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGTCCTGCCGGCTCTCCTGTG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											182	192	189					15																	78526760		2196	4293	6489	SO:0001819	synonymous_variant	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.84C>T	15.37:g.78526760G>A			B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	CCDS10298.1																																																																																				0.572	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		A	78526760	G	A	78526760	2	1	594	1	0	0	0	0	0	0	0	1	173	1194	42	2		2	ACSBG1	15	78526760	Silent	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	19601307	78526760	24004632	56	32500											
ANKRD11	29123	hgsc.bcm.edu;ucsc.edu	37	16	89349043	89349043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr16:89349043delC	ENST00000301030.4	-	9	4367	c.3907delG	c.(3907-3909)gtcfs	p.V1303fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.V1303fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1303	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCAGAGGAGACCTCGCTGATT	0.567																																																0													47	48	48					16																	89349043		2198	4300	6498	SO:0001589	frameshift_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3907delG	16.37:g.89349043delC	ENSP00000301030:p.Val1303fs		Q6NTG1|Q6QMF8	Frame_Shift_Del	DEL	ENST00000301030.4	37	CCDS32513.1																																																																																				0.567	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		-	89349043	C	-	89349043	7	5	594	1	0	1	0	1	0	0	0	0	639	507	18	0	4104	0	ANKRD11	16	89349043	Frame_Shift_Del	DEL	C	TCGA-CZ-5462-01A-01D-1501-10		89349043	1005710	57	32501											
CTNS	1497	broad.mit.edu;ucsc.edu	37	17	3563239	3563239	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr17:3563239C>A	ENST00000046640.3	+	11	1533	c.940C>A	c.(940-942)Ctg>Atg	p.L314M	CTNS_ENST00000414524.2_Missense_Mutation_p.L167M|CTNS_ENST00000441220.2_Missense_Mutation_p.L206M|CTNS_ENST00000381870.3_Missense_Mutation_p.L314M|RP11-235E17.6_ENST00000575741.1_RNA	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	314	PQ-loop 2.				adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)	p.L314M(2)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CTTCAGCCTCCTGCAGATGTT	0.632																																																2	Substitution - Missense(2)	kidney(2)											56	54	55					17																	3563239		2203	4300	6503	SO:0001583	missense	1497			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.940C>A	17.37:g.3563239C>A	ENSP00000046640:p.Leu314Met		D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	ENST00000046640.3	37	CCDS11031.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.981285	0.74474	.	.	ENSG00000040531	ENST00000046640;ENST00000381870;ENST00000441220;ENST00000414524	D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02	5.33	5.33	0.75918	.	0.134081	0.51477	D	0.000081	D	0.98642	0.9545	M	0.73962	2.25	0.48040	D	0.999572	D;D;D	0.89917	0.999;0.975;1.0	D;P;D	0.74674	0.984;0.792;0.984	D	0.98730	1.0712	10	0.54805	T	0.06	-29.9382	14.0486	0.64719	0.0:0.8491:0.1509:0.0	.	206;314;314	F8W6Z1;O60931;O60931-2	.;CTNS_HUMAN;.	M	314;314;206;167	ENSP00000046640:L314M;ENSP00000371294:L314M;ENSP00000411465:L206M;ENSP00000395471:L167M	ENSP00000046640:L314M	L	+	1	2	CTNS	3509988	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.416000	0.52707	2.667000	0.90743	0.561000	0.74099	CTG		0.632	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		A	3563239	C	A	3563239	3	1	594	1	0	0	0	0	1	0	0	0	4023	680	24	4	974	4	CTNS	17	3563239	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10		3563239	77631971	58	32502											
CA10	56934	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	50149723	50149723	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr17:50149723C>T	ENST00000285273.4	-	3	1203	c.92G>A	c.(91-93)gGc>gAc	p.G31D	CA10_ENST00000442502.2_Missense_Mutation_p.G31D|CA10_ENST00000340813.6_Missense_Mutation_p.G37D|CA10_ENST00000451037.2_Missense_Mutation_p.G31D|CA10_ENST00000570565.1_5'UTR	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	31					brain development (GO:0007420)			p.G31D(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TGCCCACCAGCCTTCATGGAT	0.393																																																1	Substitution - Missense(1)	kidney(1)											122	118	119					17																	50149723		2203	4300	6503	SO:0001583	missense	56934			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.92G>A	17.37:g.50149723C>T	ENSP00000285273:p.Gly31Asp		B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624702	0.46840	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.68331	1.8;1.8;1.8;-0.32	6.17	6.17	0.99709	Carbonic anhydrase, alpha-class, catalytic domain (2);	0.000000	0.64402	D	0.000003	T	0.53594	0.1806	N	0.19112	0.55	0.58432	D	0.999992	B;B	0.18166	0.026;0.026	B;B	0.17433	0.018;0.018	T	0.45977	-0.9224	9	.	.	.	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	31;37	Q9NS85;Q68D28	CAH10_HUMAN;.	D	31;31;31;37	ENSP00000390666:G31D;ENSP00000285273:G31D;ENSP00000405388:G31D;ENSP00000340363:G37D	.	G	-	2	0	CA10	47504722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.020000	0.64066	2.941000	0.99782	0.655000	0.94253	GGC		0.393	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		T	50149723	C	T	50149723	3	4	594	1	0	0	0	0	1	0	0	0	2513	739	26	2	926	2	CA10	17	50149723	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10	46586484	50149723	31045487	59	32503											
ZNF24	7572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	32919802	32919802	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr18:32919802T>A	ENST00000261332.6	-	3	738	c.559A>T	c.(559-561)Agg>Tgg	p.R187W	ZNF24_ENST00000399061.3_Missense_Mutation_p.R187W|ZNF24_ENST00000589881.1_Missense_Mutation_p.R187W	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	187					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R187W(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						CCACAGTGCCTTAGGGAATGG	0.507																																					Colon(42;769 913 8916 19469 46270)											1	Substitution - Missense(1)	kidney(1)											113	110	111					18																	32919802		2203	4300	6503	SO:0001583	missense	7572			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"-", "Zinc fingers, C2H2-type"	13032	protein-coding gene	gene with protein product		194534	"zinc finger protein 24 (KOX 17)"	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.559A>T	18.37:g.32919802T>A	ENSP00000261332:p.Arg187Trp		O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457319	0.63401	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.05319	3.46;3.46	5.22	-0.475	0.12104	.	0.000000	0.64402	D	0.000010	T	0.13543	0.0328	L	0.39898	1.24	0.29462	N	0.857652	D;D	0.67145	0.996;0.992	D;D	0.76071	0.987;0.971	T	0.02574	-1.1139	10	0.34782	T	0.22	.	12.5602	0.56277	0.0:0.0:0.5946:0.4054	.	187;187	P17028-2;P17028	.;ZNF24_HUMAN	W	187	ENSP00000261332:R187W;ENSP00000382015:R187W	ENSP00000261332:R187W	R	-	1	2	ZNF24	31173800	0.576000	0.26700	0.257000	0.24404	0.981000	0.71138	0.236000	0.17967	-0.115000	0.11915	-0.313000	0.08912	AGG		0.507	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		A	32919802	T	A	32919802	3	1	594	1	0	0	0	0	1	0	0	0	17797	1608	56	5	555	5	ZNF24	18	32919802	Missense_Mutation	SNP	T	TCGA-CZ-5462-01A-01D-1501-10		32919802	45157446	60	32504											
COL5A3	50509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10116391	10116391	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr19:10116391C>T	ENST00000264828.3	-	4	523		c.e4-1			NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3						axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACGGTGCCACCTGCAAGGGGA	0.632																																																1	Unknown(1)	kidney(1)											53	47	49					19																	10116391		2203	4300	6503	SO:0001630	splice_region_variant	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.438-1G>A	19.37:g.10116391C>T			Q9NZQ6	Splice_Site	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288909	0.40494	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5978	0.50984	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A3	9977391	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	5.975000	0.70475	2.128000	0.65567	0.313000	0.20887	.		0.632	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	Intron	T	10116391	C	T	10116391	5	4	594	1	0	0	0	0	0	0	1	0	3700	695	24	2	5056	2	COL5A3	19	10116391	Splice_Site	SNP	C	TCGA-CZ-5462-01A-01D-1501-10		10116391	49012592	61	32505											
LTBP4	8425	hgsc.bcm.edu;ucsc.edu	37	19	41129556	41129556	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr19:41129556delG	ENST00000308370.7	+	29	3802	c.3802delG	c.(3802-3804)gtgfs	p.V1268fs	LTBP4_ENST00000545697.1_Frame_Shift_Del_p.V636fs|LTBP4_ENST00000396819.3_Frame_Shift_Del_p.V1201fs|LTBP4_ENST00000204005.9_Frame_Shift_Del_p.V1231fs|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1269	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAAGAGTGGCGTGTGTGTGAA	0.597																																																0													85	91	89					19																	41129556		2106	4230	6336	SO:0001589	frameshift_variant	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3802delG	19.37:g.41129556delG	ENSP00000311905:p.Val1268fs		O00508|O75412|O75413	Frame_Shift_Del	DEL	ENST00000308370.7	37																																																																																					0.597	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		-	41129556	G	-	41129556	7	5	594	1	0	1	0	1	0	0	0	0	9078	1145	40	0	4207	0	LTBP4	19	41129556	Frame_Shift_Del	DEL	G	TCGA-CZ-5462-01A-01D-1501-10	31013165	41129556	17999427	62	32506											
C20orf114	92747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31873889	31873889	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr20:31873889C>A	ENST00000253354.1	+	2	171	c.10C>A	c.(10-12)Ccg>Acg	p.P4T		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	4					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.P4T(1)									GATGGCCGGCCCGTGGACCTT	0.617																																																1	Substitution - Missense(1)	kidney(1)											110	94	99					20																	31873889		2203	4300	6503	SO:0001583	missense	0			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.10C>A	20.37:g.31873889C>A	ENSP00000253354:p.Pro4Thr		A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	9.775	1.173749	0.21704	.	.	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.53423	0.62;3.78	4.92	2.84	0.33178	.	0.623834	0.15959	N	0.236351	T	0.38348	0.1037	L	0.50333	1.59	0.09310	N	1	P;B	0.47106	0.89;0.451	B;B	0.40702	0.338;0.134	T	0.17137	-1.0379	10	0.39692	T	0.17	-4.2767	6.8705	0.24119	0.0:0.7714:0.0:0.2286	.	4;4	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	T	4	ENSP00000390471:P4T;ENSP00000253354:P4T	ENSP00000253354:P4T	P	+	1	0	BPIFB1	31337550	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	0.634000	0.24614	0.678000	0.31325	0.655000	0.94253	CCG		0.617	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		A	31873889	C	A	31873889	3	1	594	1	0	0	0	0	1	0	0	0	2084	623	22	4	12	4	C20orf114	20	31873889	Missense_Mutation	SNP	C	TCGA-CZ-5462-01A-01D-1501-10		31873889	31151631	63	32507											
PTPRT	11122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	40713330	40713330	+	Silent	SNP	G	G	T			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr20:40713330G>T	ENST00000373187.1	-	29	4127	c.4128C>A	c.(4126-4128)gtC>gtA	p.V1376V	PTPRT_ENST00000373193.3_Silent_p.V1379V|PTPRT_ENST00000356100.2_Silent_p.V1385V|PTPRT_ENST00000373184.1_Silent_p.V1386V|PTPRT_ENST00000373201.1_Silent_p.V1366V|PTPRT_ENST00000373198.4_Silent_p.V1395V|PTPRT_ENST00000373190.1_Silent_p.V1375V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1376	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.V1398V(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAGGCAGTGGACCACAGTAC	0.607																																																1	Substitution - coding silent(1)	kidney(1)											59	63	62					20																	40713330		2090	4199	6289	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4128C>A	20.37:g.40713330G>T			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																				0.607	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			T	40713330	G	T	40713330	2	4	594	1	0	0	0	0	0	0	0	1	12818	1161	41	4		4	PTPRT	20	40713330	Silent	SNP	G	TCGA-CZ-5462-01A-01D-1501-10	8839441	40713330	22312190	64	32508											
TRAPPC10	7109	broad.mit.edu;ucsc.edu	37	21	45513966	45513966	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr21:45513966T>C	ENST00000291574.4	+	20	3195	c.3020T>C	c.(3019-3021)gTg>gCg	p.V1007A	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1007					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.V1007A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AAGCAGTCGGTGTTCTTCGTC	0.537																																																1	Substitution - Missense(1)	kidney(1)											147	130	136					21																	45513966		2203	4300	6503	SO:0001583	missense	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3020T>C	21.37:g.45513966T>C	ENSP00000291574:p.Val1007Ala		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.245994	0.59103	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.28895	1.59	5.11	5.11	0.69529	.	0.148349	0.46442	D	0.000294	T	0.38241	0.1033	L	0.43923	1.385	0.53688	D	0.999971	D;P;P	0.54601	0.967;0.835;0.732	P;B;B	0.51806	0.68;0.251;0.254	T	0.12116	-1.0560	10	0.45353	T	0.12	.	15.2088	0.73202	0.0:0.0:0.0:1.0	.	112;266;1007	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	A	1007;138	ENSP00000291574:V1007A	ENSP00000291574:V1007A	V	+	2	0	TRAPPC10	44338394	1.000000	0.71417	0.994000	0.49952	0.924000	0.55760	4.868000	0.63021	2.047000	0.60756	0.533000	0.62120	GTG		0.537	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		C	45513966	T	C	45513966	3	2	594	1	0	0	0	0	1	0	0	0	16462	1696	59	3	3098	3	TRAPPC10	21	45513966	Missense_Mutation	SNP	T	TCGA-CZ-5462-01A-01D-1501-10		45513966	2615929	65	32509											
PITPNB	23760	hgsc.bcm.edu;ucsc.edu	37	22	28256199	28256199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chr22:28256199delG	ENST00000335272.5	-	9	641	c.565delC	c.(565-567)cagfs	p.Q189fs	PITPNB_ENST00000455418.3_Frame_Shift_Del_p.Q191fs|PITPNB_ENST00000320996.10_Frame_Shift_Del_p.Q189fs	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	189					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						GCACACATCTGGGGACAGTCA	0.368																																																0													75	74	74					22																	28256199		2203	4300	6503	SO:0001589	frameshift_variant	23760			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.565delC	22.37:g.28256199delG	ENSP00000334738:p.Gln189fs		B3KYB8|B7Z7Q0|Q8N5W1	Frame_Shift_Del	DEL	ENST00000335272.5	37	CCDS13842.1																																																																																				0.368	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1			-	28256199	G	-	28256199	7	5	594	1	0	1	0	1	0	0	0	0	11950	1357	47	0	262	0	PITPNB	22	28256199	Frame_Shift_Del	DEL	G	TCGA-CZ-5462-01A-01D-1501-10		28256199	23048367	66	32510											
ACOT9	23597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	23754070	23754070	+	Silent	SNP	G	G	A			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chrX:23754070G>A	ENST00000336430.7	-	2	215	c.84C>T	c.(82-84)aaC>aaT	p.N28N	ACOT9_ENST00000379303.5_Silent_p.N28N|ACOT9_ENST00000492081.1_Intron|ACOT9_ENST00000379295.1_5'UTR	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	28					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)	p.N28N(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						GTTTCTTGGGGTTCTGGGGTC	0.448																																																1	Substitution - coding silent(1)	kidney(1)											285	238	254					X																	23754070		2203	4300	6503	SO:0001819	synonymous_variant	23597			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.84C>T	X.37:g.23754070G>A			B3KNC9|B7ZM94	Silent	SNP	ENST00000336430.7	37	CCDS35216.1																																																																																				0.448	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		A	23754070	G	A	23754070	2	1	594	1	0	0	0	0	0	0	0	1	157	1252	44	2		2	ACOT9	23	23754070	Silent	SNP	G	TCGA-CZ-5462-01A-01D-1501-10		23754070	131516490	67	32511											
KLF8	11279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	56292017	56292017	+	Silent	SNP	T	T	C			TCGA-CZ-5462-01A-01D-1501-10	TCGA-CZ-5462-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74eed0c6-b3cc-4666-8ef0-194e1bbe1048	58ebedb1-02e5-437b-b5ec-c463a50b1f10	g.chrX:56292017T>C	ENST00000468660.1	+	3	774	c.486T>C	c.(484-486)acT>acC	p.T162T	KLF8_ENST00000374928.3_Silent_p.T162T	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T162T(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						TCATTCACACTATCCCCTCAG	0.512																																																1	Substitution - coding silent(1)	kidney(1)											110	89	96					X																	56292017		2203	4300	6503	SO:0001819	synonymous_variant	11279			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.486T>C	X.37:g.56292017T>C			B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	ENST00000468660.1	37	CCDS14373.1																																																																																				0.512	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		C	56292017	T	C	56292017	2	2	594	1	0	0	0	0	0	0	0	1	8354	1509	53	3		3	KLF8	23	56292017	Silent	SNP	T	TCGA-CZ-5462-01A-01D-1501-10	32537947	56292017	98978543	68	32512											
CLCN6	1185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11896171	11896171	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr1:11896171G>A	ENST00000346436.6	+	18	1993	c.1941G>A	c.(1939-1941)atG>atA	p.M647I	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.M625I|CLCN6_ENST00000376496.3_Missense_Mutation_p.M647I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	647	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.M647I(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGTTCATGAAGGGCAACC	0.567																																																1	Substitution - Missense(1)	kidney(1)											110	91	97					1																	11896171		2203	4300	6503	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1941G>A	1.37:g.11896171G>A	ENSP00000234488:p.Met647Ile		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188882	0.57909	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.90844	-2.73;-2.73;-2.74	5.71	5.71	0.89125	Cystathionine beta-synthase, core (2);	0.000000	0.85682	D	0.000000	D	0.84831	0.5559	N	0.14661	0.345	0.80722	D	1	B;B	0.23650	0.073;0.089	B;B	0.24701	0.033;0.055	T	0.80788	-0.1226	10	0.54805	T	0.06	-41.1105	18.8314	0.92141	0.0:0.0:1.0:0.0	.	625;647	F8W9R3;P51797	.;CLCN6_HUMAN	I	647;625;647	ENSP00000234488:M647I;ENSP00000365670:M625I;ENSP00000365679:M647I	ENSP00000234488:M647I	M	+	3	0	CLCN6	11818758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.700000	0.92200	0.462000	0.41574	ATG		0.567	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		A	11896171	G	A	11896171	3	1	595	1	0	0	0	0	1	0	0	0	3469	1290	45	2	2021	2	CLCN6	1	11896171	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10		11896171	237354450	1	32513											
C1orf168	199920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	57189298	57189298	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr1:57189298A>C	ENST00000343433.6	-	17	2017	c.1937T>G	c.(1936-1938)aTg>aGg	p.M646R	C1orf168_ENST00000484327.1_5'Flank	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	646								p.M646R(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTCTCTTTTCATTCTGTTCTT	0.303																																																1	Substitution - Missense(1)	kidney(1)											60	55	57					1																	57189298		2199	4296	6495	SO:0001583	missense	199920			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1937T>G	1.37:g.57189298A>C	ENSP00000345972:p.Met646Arg		Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.546307	0.45383	.	.	ENSG00000187889	ENST00000343433	T	0.32515	1.45	4.18	4.18	0.49190	.	0.184919	0.37095	N	0.002247	T	0.39682	0.1087	L	0.60455	1.87	0.38642	D	0.951621	D	0.55605	0.972	P	0.52217	0.693	T	0.38351	-0.9665	10	0.46703	T	0.11	-0.9031	11.5971	0.50979	1.0:0.0:0.0:0.0	.	646	Q5VWT5	CA168_HUMAN	R	646	ENSP00000345972:M646R	ENSP00000345972:M646R	M	-	2	0	C1orf168	56961886	0.997000	0.39634	0.957000	0.39632	0.993000	0.82548	4.725000	0.61979	2.119000	0.64992	0.533000	0.62120	ATG		0.303	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		C	57189298	A	C	57189298	3	2	595	1	0	0	0	0	1	0	0	0	2014	217	8	5	265	5	C1orf168	1	57189298	Missense_Mutation	SNP	A	TCGA-CZ-5463-01A-01D-1501-10	45293127	57189298	192061323	2	32514											
SGIP1	84251	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	67161174	67161174	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr1:67161174A>G	ENST00000371037.4	+	18	1705	c.1628A>G	c.(1627-1629)gAa>gGa	p.E543G	SGIP1_ENST00000435165.2_Missense_Mutation_p.E48G|SGIP1_ENST00000371035.3_Missense_Mutation_p.E333G|SGIP1_ENST00000237247.6_Missense_Mutation_p.E574G|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	543					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.E543G(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTGACTTTTGAAGGTAAGTAG	0.413																																																1	Substitution - Missense(1)	kidney(1)											140	130	133					1																	67161174		2203	4300	6503	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1628A>G	1.37:g.67161174A>G	ENSP00000360076:p.Glu543Gly		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843781	0.51164	.	.	ENSG00000118473	ENST00000237247;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371037;ENST00000435165	T;T;T;T	0.47528	2.48;2.5;2.44;0.84	5.53	5.53	0.82687	.	0.050673	0.85682	D	0.000000	T	0.29355	0.0731	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.20052	0.041;0.001;0.006;0.041	B;B;B;B	0.27796	0.083;0.003;0.004;0.013	T	0.11743	-1.0575	10	0.23891	T	0.37	-19.4387	15.9582	0.79902	1.0:0.0:0.0:0.0	.	573;48;333;543	A6NEV3;Q6ZV33;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	G	574;333;573;546;543;48	ENSP00000237247:E574G;ENSP00000360074:E333G;ENSP00000360076:E543G;ENSP00000395525:E48G	ENSP00000237247:E574G	E	+	2	0	SGIP1	66933762	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.870000	0.92336	2.219000	0.72066	0.533000	0.62120	GAA		0.413	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		G	67161174	A	G	67161174	3	3	595	1	0	0	0	0	1	0	0	0	14212	246	9	3	1698	3	SGIP1	1	67161174	Missense_Mutation	SNP	A	TCGA-CZ-5463-01A-01D-1501-10	9971876	67161174	182089447	3	32515											
ELTD1	64123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	79387344	79387344	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr1:79387344T>C	ENST00000370742.3	-	9	1274	c.1211A>G	c.(1210-1212)aAt>aGt	p.N404S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	404	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N404S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGTCAGGTGATTACAGCGGCA	0.403																																																1	Substitution - Missense(1)	kidney(1)											165	158	160					1																	79387344		1989	4159	6148	SO:0001583	missense	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1211A>G	1.37:g.79387344T>C	ENSP00000359778:p.Asn404Ser		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	8.593	0.884973	0.17540	.	.	ENSG00000162618	ENST00000370742	T	0.73258	-0.73	5.32	4.2	0.49525	GPS domain (3);	0.134612	0.64402	N	0.000003	T	0.43389	0.1245	L	0.43554	1.36	0.38379	D	0.945079	B	0.12013	0.005	B	0.18263	0.021	T	0.34079	-0.9843	9	.	.	.	.	10.4925	0.44758	0.0:0.0777:0.0:0.9223	.	404	Q9HBW9	ELTD1_HUMAN	S	404	ENSP00000359778:N404S	.	N	-	2	0	ELTD1	79159932	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.923000	0.63412	0.975000	0.38392	0.477000	0.44152	AAT		0.403	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		C	79387344	T	C	79387344	3	2	595	1	0	0	0	0	1	0	0	0	5086	1493	52	3	889	3	ELTD1	1	79387344	Missense_Mutation	SNP	T	TCGA-CZ-5463-01A-01D-1501-10	12226170	79387344	169863277	4	32516											
VANGL1	81839	broad.mit.edu;hgsc.bcm.edu	37	1	116226627	116226627	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr1:116226627G>T	ENST00000355485.2	+	6	1280	c.1009G>T	c.(1009-1011)Gac>Tac	p.D337Y	VANGL1_ENST00000369510.4_Missense_Mutation_p.D335Y|VANGL1_ENST00000310260.3_Missense_Mutation_p.D337Y|VANGL1_ENST00000369509.1_Missense_Mutation_p.D337Y|VANGL1_ENST00000474344.1_3'UTR	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	337					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.D337Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCGGCGCAGGGACTCAAGCCA	0.532																																																1	Substitution - Missense(1)	kidney(1)											67	60	63					1																	116226627		2203	4300	6503	SO:0001583	missense	81839			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1009G>T	1.37:g.116226627G>T	ENSP00000347672:p.Asp337Tyr		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985248	0.74474	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	4.58	4.58	0.56647	.	0.048340	0.85682	D	0.000000	D	0.88206	0.6374	M	0.85542	2.76	0.80722	D	1	P;P	0.43542	0.773;0.81	B;B	0.44085	0.313;0.44	D	0.91025	0.4860	10	0.87932	D	0	0.0	17.6175	0.88071	0.0:0.0:1.0:0.0	.	335;337	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	Y	337;335;337;337	ENSP00000347672:D337Y;ENSP00000358523:D335Y;ENSP00000310800:D337Y;ENSP00000358522:D337Y	ENSP00000310800:D337Y	D	+	1	0	VANGL1	116028150	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	9.254000	0.95512	2.366000	0.80165	0.551000	0.68910	GAC		0.532	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			T	116226627	G	T	116226627	3	4	595	1	0	0	0	0	1	0	0	0	17124	1174	41	4	1027	4	VANGL1	1	116226627	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10	36839283	116226627	133023994	5	32517											
TPR	7175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186286645	186286645	+	Silent	SNP	G	G	T			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr1:186286645G>T	ENST00000367478.4	-	49	7205	c.6909C>A	c.(6907-6909)acC>acA	p.T2303T		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2303					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.T2290T(1)|p.T2303T(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GATCCTGGCTGGTGGAGGGGA	0.443			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - coding silent(2)	kidney(2)											94	95	95					1																	186286645		1911	4125	6036	SO:0001819	synonymous_variant	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6909C>A	1.37:g.186286645G>T			Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	CCDS41446.1																																																																																				0.443	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		T	186286645	G	T	186286645	2	4	595	1	0	0	0	0	0	0	0	1	16421	1335	47	4		4	TPR	1	186286645	Silent	SNP	G	TCGA-CZ-5463-01A-01D-1501-10	70060018	186286645	62963976	6	32518											
CR1	1378	broad.mit.edu;hgsc.bcm.edu	37	1	207790124	207790124	+	Missense_Mutation	SNP	G	G	T	rs571422599		TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr1:207790124G>T	ENST00000367049.4	+	41	6866	c.6866G>T	c.(6865-6867)cGc>cTc	p.R2289L	CR1_ENST00000367053.1_Missense_Mutation_p.R1839L|CR1_ENST00000367052.1_Missense_Mutation_p.R1839L|CR1_ENST00000400960.2_Missense_Mutation_p.R1839L|CR1_ENST00000367051.1_Missense_Mutation_p.R1839L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1839					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R2289L(1)|p.R1844L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCTGCCCCTCGCTGTGAACTT	0.502																																																2	Substitution - Missense(2)	kidney(2)											131	130	131					1																	207790124		1937	4137	6074	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6866G>T	1.37:g.207790124G>T	ENSP00000356016:p.Arg2289Leu		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.680|6.680	0.494094|0.494094	0.12702|0.12702	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.|T;T;T;T;T	.|0.65178	.|-0.14;-0.14;-0.14;-0.14;-0.14	4.15|4.15	-4.03|-4.03	0.04021|0.04021	.|Complement control module (2);Sushi/SCR/CCP (3);	.|.	.|.	.|.	.|.	T|T	0.52125|0.52125	0.1715|0.1715	L|L	0.35793|0.35793	1.09|1.09	0.09310|0.09310	N|N	0.999998|0.999998	.|B;D	.|0.58620	.|0.003;0.983	.|B;P	.|0.59056	.|0.015;0.851	T|T	0.47935|0.47935	-0.9078|-0.9078	5|9	.|0.10902	.|T	.|0.67	.|.	0.2062|0.2062	0.00151|0.00151	0.2539:0.2583:0.2242:0.2635|0.2539:0.2583:0.2242:0.2635	.|.	.|1839;2289	.|P17927;E9PDY4	.|CR1_HUMAN;.	S|L	462|1839;1839;1839;1839;2289	.|ENSP00000356019:R1839L;ENSP00000356018:R1839L;ENSP00000356020:R1839L;ENSP00000383744:R1839L;ENSP00000356016:R2289L	.|ENSP00000356016:R2289L	A|R	+|+	1|2	0|0	CR1|CR1	205856747|205856747	0.013000|0.013000	0.17824|0.17824	0.085000|0.085000	0.20634|0.20634	0.035000|0.035000	0.12851|0.12851	-1.443000|-1.443000	0.02405|0.02405	-0.831000|-0.831000	0.04256|0.04256	-1.166000|-1.166000	0.01754|0.01754	GCT|CGC		0.502	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		T	207790124	G	T	207790124	3	4	595	1	0	0	0	0	1	0	0	0	3842	1087	38	4	7028	4	CR1	1	207790124	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10	21503479	207790124	41460497	7	32519											
SLC3A1	6519	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44547384	44547385	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr2:44547384_44547385insA	ENST00000260649.6	+	10	1740_1741	c.1664_1665insA	c.(1663-1668)ttaagtfs	p.S556fs	PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|SLC3A1_ENST00000409380.1_Frame_Shift_Ins_p.S278fs|SLC3A1_ENST00000409740.3_Frame_Shift_Ins_p.S187fs	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	556					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TATCAAGATTTAAGTCTACTTC	0.386																																																0																																										SO:0001589	frameshift_variant	6519				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1666dupA	2.37:g.44547386_44547386dupA	ENSP00000260649:p.Ser556fs		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Frame_Shift_Ins	INS	ENST00000260649.6	37	CCDS1819.1																																																																																				0.386	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		A	44547385	-	A	44547384	7	5	595	1	0	1	1	0	0	0	0	0	14632	1764	61	0	1702	0	SLC3A1	2	44547384	Frame_Shift_Ins	INS	-	TCGA-CZ-5463-01A-01D-1501-10		44547384	198651989	8	32520											
CCDC74A	90557	hgsc.bcm.edu	37	2	132288327	132288327	+	Silent	SNP	C	C	T	rs138376646	byFrequency	TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr2:132288327C>T	ENST00000295171.6	+	3	609	c.471C>T	c.(469-471)gcC>gcT	p.A157A	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Silent_p.A259A	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	157										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCGGTAGCGCCGACACTGTGC	0.632																																																0													87	85	85					2																	132288327		2202	4300	6502	SO:0001819	synonymous_variant	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.471C>T	2.37:g.132288327C>T			Q6P4I5	Silent	SNP	ENST00000295171.6	37	CCDS2167.1																																																																																				0.632	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		T	132288327	C	T	132288327	2	4	595	1	0	0	0	0	0	0	0	1	2849	639	23	1		1	CCDC74A	2	132288327	Silent	SNP	C	TCGA-CZ-5463-01A-01D-1501-10	87740943	132288327	110911046	9	32521											
DNAJC10	54431	broad.mit.edu	37	2	183605974	183605974	+	Missense_Mutation	SNP	G	G	A	rs201121755		TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr2:183605974G>A	ENST00000264065.7	+	13	1497	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	361	Trxb 2.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.R361H(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTAAGGATCGTTTGGCTCAT	0.313																																					Pancreas(56;860 1183 25669 35822 48585)											1	Substitution - Missense(1)	kidney(1)											98	91	94					2																	183605974		2201	4299	6500	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1082G>A	2.37:g.183605974G>A	ENSP00000264065:p.Arg361His		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059665	0.36373	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.21543	2.0	4.76	3.89	0.44902	Thioredoxin-like fold (2);	0.234157	0.38272	N	0.001743	T	0.15305	0.0369	L	0.33485	1.01	0.80722	D	1	B;B	0.23540	0.087;0.086	B;B	0.14023	0.01;0.007	T	0.04781	-1.0927	10	0.41790	T	0.15	.	10.0191	0.42033	0.2171:0.0:0.7829:0.0	.	315;361	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	H	361;315	ENSP00000264065:R361H	ENSP00000264065:R361H	R	+	2	0	DNAJC10	183314219	0.990000	0.36364	0.995000	0.50966	0.974000	0.67602	1.708000	0.37899	1.127000	0.42034	0.650000	0.86243	CGT		0.313	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		A	183605974	G	A	183605974	3	1	595	1	0	0	0	0	1	0	0	0	4631	1145	40	1	1124	1	DNAJC10	2	183605974	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10	51317647	183605974	59593399	10	32522											
ATG3	64422	broad.mit.edu;ucsc.edu	37	3	112256693	112256693	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr3:112256693T>G	ENST00000283290.5	-	9	989	c.555A>C	c.(553-555)aaA>aaC	p.K185N	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.K185N	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	185					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)	p.K185N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CAGCATCAGTTTTGGCTTTAC	0.343																																																1	Substitution - Missense(1)	kidney(1)											94	89	91					3																	112256693		2203	4300	6503	SO:0001583	missense	64422				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.555A>C	3.37:g.112256693T>G	ENSP00000283290:p.Lys185Asn		Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357988	0.41801	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.82	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	N	0.14661	0.345	0.58432	D	0.999997	B;B	0.14012	0.005;0.009	B;B	0.23852	0.029;0.049	T	0.12889	-1.0530	9	0.18276	T	0.48	8.141	12.1431	0.54008	0.0:0.0677:0.0:0.9323	.	185;185	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	N	185	.	ENSP00000283290:K185N	K	-	3	2	ATG3	113739383	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.691000	0.54720	0.975000	0.38392	0.533000	0.62120	AAA		0.343	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		G	112256693	T	G	112256693	3	3	595	1	0	0	0	0	1	0	0	0	1095	1838	64	5	405	5	ATG3	3	112256693	Missense_Mutation	SNP	T	TCGA-CZ-5463-01A-01D-1501-10		112256693	85765737	11	32523											
RABL3	285282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	120461341	120461341	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr3:120461341T>C	ENST00000273375.3	-	1	43	c.14A>G	c.(13-15)gAt>gGt	p.D5G	RABL3_ENST00000483733.1_Missense_Mutation_p.D5G|GTF2E1_ENST00000283875.5_5'Flank|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	5	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)	p.D5G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CTTCACCCGATCCAGGGACGC	0.552																																																1	Substitution - Missense(1)	kidney(1)											134	106	115					3																	120461341		2203	4300	6503	SO:0001583	missense	285282			BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.14A>G	3.37:g.120461341T>C	ENSP00000273375:p.Asp5Gly		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.074377	0.76415	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.70869	-0.52;-0.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	L	0.53780	1.695	0.80722	D	1	P	0.34522	0.455	B	0.37198	0.243	T	0.71666	-0.4524	10	0.66056	D	0.02	-20.7838	15.6463	0.77055	0.0:0.0:0.0:1.0	.	5	Q5HYI8	RABL3_HUMAN	G	5	ENSP00000273375:D5G;ENSP00000419986:D5G	ENSP00000273375:D5G	D	-	2	0	RABL3	121944031	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.275000	0.72594	2.371000	0.80710	0.533000	0.62120	GAT		0.552	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		C	120461341	T	C	120461341	3	2	595	1	0	0	0	0	1	0	0	0	12978	1435	50	3	728	3	RABL3	3	120461341	Missense_Mutation	SNP	T	TCGA-CZ-5463-01A-01D-1501-10	8204648	120461341	77561089	12	32524											
RFC4	5984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186508151	186508151	+	Silent	SNP	C	C	T			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr3:186508151C>T	ENST00000392481.2	-	9	1127	c.846G>A	c.(844-846)caG>caA	p.Q282Q	SNORA63_ENST00000363450.1_RNA|RFC4_ENST00000433496.1_Intron|SNORA4_ENST00000584302.1_RNA|RFC4_ENST00000296273.2_Silent_p.Q282Q	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	282					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.Q282Q(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AAGAGCCACTCTGACAGGCAG	0.368																																																1	Substitution - coding silent(1)	kidney(1)											110	110	110					3																	186508151		2203	4300	6503	SO:0001819	synonymous_variant	5984				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"ATPases / AAA-type"	9972	protein-coding gene	gene with protein product	"A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit"	102577	"replication factor C (activator 1) 4 (37kD)"			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.846G>A	3.37:g.186508151C>T			B4DM41|D3DNV2|Q6FHX7	Silent	SNP	ENST00000392481.2	37	CCDS3283.1																																																																																				0.368	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		T	186508151	C	T	186508151	2	4	595	1	0	0	0	0	0	0	0	1	13253	912	32	2		2	RFC4	3	186508151	Silent	SNP	C	TCGA-CZ-5463-01A-01D-1501-10	66046810	186508151	11514279	13	32525											
GAR1	54433	broad.mit.edu;ucsc.edu	37	4	110737330	110737330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr4:110737330C>T	ENST00000226796.6	+	2	274	c.10C>T	c.(10-12)Cga>Tga	p.R4*	RP11-602N24.3_ENST00000609440.1_lincRNA|GAR1_ENST00000394631.3_Nonsense_Mutation_p.R4*	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	4	RGG-box 1.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)	p.R4*(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AATGTCTTTTCGAGGCGGAGG	0.567																																																1	Substitution - Nonsense(1)	kidney(1)											79	88	85					4																	110737330		2203	4300	6503	SO:0001587	stop_gained	54433			AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)", "GAR1 ribonucleoprotein homolog (yeast)"	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.10C>T	4.37:g.110737330C>T	ENSP00000226796:p.Arg4*		Q5MJQ2	Nonsense_Mutation	SNP	ENST00000226796.6	37	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	C	39	7.684859	0.98431	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7993	0.85610	0.0:1.0:0.0:0.0	.	.	.	.	X	4	.	ENSP00000226796:R4X	R	+	1	2	GAR1	110956779	0.993000	0.37304	0.990000	0.47175	0.990000	0.78478	2.123000	0.41996	2.486000	0.83907	0.655000	0.94253	CGA		0.567	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			T	110737330	C	T	110737330	4	4	595	1	0	0	0	0	0	1	0	0	6242	876	31	1	12	1	GAR1	4	110737330	Nonsense_Mutation	SNP	C	TCGA-CZ-5463-01A-01D-1501-10		110737330	80416946	14	32526											
MAML3	55534	broad.mit.edu;ucsc.edu	37	4	140640694	140640694	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr4:140640694T>C	ENST00000509479.2	-	5	4056	c.3200A>G	c.(3199-3201)cAg>cGg	p.Q1067R	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)									p.Q1067R(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TATCTGCTGCTGTGCTGGGGG	0.627																																																2	Substitution - Missense(2)	kidney(2)											33	37	36					4																	140640694		2198	4296	6494	SO:0001583	missense	55534			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3200A>G	4.37:g.140640694T>C	ENSP00000421180:p.Gln1067Arg			Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165781	0.38217	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.25579	1.79	4.78	3.56	0.40772	.	0.194381	0.34853	N	0.003636	T	0.26557	0.0649	M	0.72118	2.19	0.80722	D	1	B;B	0.31730	0.337;0.337	B;B	0.29176	0.099;0.099	T	0.05683	-1.0870	10	0.62326	D	0.03	.	8.6781	0.34191	0.0:0.0:0.1934:0.8066	.	1067;1063	E7EVW8;Q96JK9	.;MAML3_HUMAN	R	1067;374	ENSP00000421180:Q1067R	ENSP00000421180:Q1067R	Q	-	2	0	MAML3	140860144	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.813000	0.62620	0.745000	0.32763	0.482000	0.46254	CAG		0.627	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			C	140640694	T	C	140640694	3	2	595	1	0	0	0	0	1	0	0	0	9209	1580	55	3	220	3	MAML3	4	140640694	Missense_Mutation	SNP	T	TCGA-CZ-5463-01A-01D-1501-10	29903364	140640694	50513582	15	32527											
GUCY1A3	2982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	156634339	156634339	+	Frame_Shift_Del	DEL	T	T	-	rs200830861		TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr4:156634339delT	ENST00000296518.7	+	7	1385	c.1176delT	c.(1174-1176)gatfs	p.D392fs	GUCY1A3_ENST00000455639.2_Frame_Shift_Del_p.D392fs|GUCY1A3_ENST00000393832.3_Frame_Shift_Del_p.D134fs|GUCY1A3_ENST00000511108.1_Frame_Shift_Del_p.D392fs|GUCY1A3_ENST00000513574.1_Frame_Shift_Del_p.D392fs|GUCY1A3_ENST00000511507.1_Frame_Shift_Del_p.D392fs|GUCY1A3_ENST00000506455.1_Frame_Shift_Del_p.D392fs			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	392					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GATTAGAAGATTTTACAGGAC	0.463																																																0													86	84	85					4																	156634339		2203	4300	6503	SO:0001589	frameshift_variant	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1176delT	4.37:g.156634339delT	ENSP00000296518:p.Asp392fs		D3DP19|D6RDW3|O43843|Q8TAH3	Frame_Shift_Del	DEL	ENST00000296518.7	37	CCDS34085.1																																																																																				0.463	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			-	156634339	T	-	156634339	7	5	595	1	0	1	0	1	0	0	0	0	6896	1490	52	0	1209	0	GUCY1A3	4	156634339	Frame_Shift_Del	DEL	T	TCGA-CZ-5463-01A-01D-1501-10	15993645	156634339	34519937	16	32528											
C5orf54	63920	hgsc.bcm.edu;ucsc.edu	37	5	159821900	159821903	+	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs368035720|rs533046734		TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	TCTC	TCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr5:159821900_159821903delTCTC	ENST00000408953.3	-	2	1102_1105	c.595_598delGAGA	c.(595-600)gagatcfs	p.EI199fs	C5orf54_ENST00000523213.1_Frame_Shift_Del_p.EI199fs	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						tcttctacgatctctctttctttt	0.407																																																0																																										SO:0001589	frameshift_variant	63920																														ENST00000408953.3:c.595_598delGAGA	5.37:g.159821900_159821903delTCTC	ENSP00000386184:p.Glu199fs			Frame_Shift_Del	DEL	ENST00000408953.3	37	CCDS34283.1																																																																																				0.407	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			-	159821903	TCTC	-	159821900	7	5	595	1	0	1	0	1	0	0	0	0	2312	1435	50	0	1190	0	C5orf54	5	159821900	Frame_Shift_Del	DEL	TCTC	TCGA-CZ-5463-01A-01D-1501-10		159821900	21093360	17	32529											
RPL26L1	51121	broad.mit.edu;hgsc.bcm.edu	37	5	172386880	172386880	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr5:172386880A>C	ENST00000521476.1	+	2	128	c.4A>C	c.(4-6)Aag>Cag	p.K2Q	CTC-308K20.2_ENST00000519755.1_lincRNA|RPL26L1_ENST00000265100.2_Missense_Mutation_p.K2Q|CTC-308K20.1_ENST00000518818.1_RNA|CTC-308K20.1_ENST00000518894.1_RNA|CTC-308K20.1_ENST00000520067.1_RNA|RPL26L1_ENST00000519974.1_Missense_Mutation_p.K2Q|RPL26L1_ENST00000519239.1_Missense_Mutation_p.K2Q			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	2					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)	p.K2Q(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGTCACCATGAAGTTCAATCC	0.562											OREG0017052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											182	162	169					5																	172386880		2203	4300	6503	SO:0001583	missense	51121			AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"L ribosomal proteins"	17050	protein-coding gene	gene with protein product			"ribosomal protein L26 pseudogene 1"	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.4A>C	5.37:g.172386880A>C	ENSP00000428223:p.Lys2Gln	1900	B3KY82|D3DQM0	Missense_Mutation	SNP	ENST00000521476.1	37	CCDS4382.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752888	0.69648	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519522;ENST00000519156	.	.	.	4.67	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	M	0.81179	2.53	0.58432	D	0.999995	B	0.20368	0.044	B	0.21708	0.036	T	0.63699	-0.6578	9	0.66056	D	0.02	.	11.2164	0.48830	0.8461:0.1539:0.0:0.0	.	2	Q9UNX3	RL26L_HUMAN	Q	2	.	ENSP00000265100:K2Q	K	+	1	0	RPL26L1	172319486	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.906000	0.75719	0.775000	0.33450	0.448000	0.29417	AAG		0.562	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	NM_016093		C	172386880	A	C	172386880	3	2	595	1	0	0	0	0	1	0	0	0	13580	247	9	5	6	5	RPL26L1	5	172386880	Missense_Mutation	SNP	A	TCGA-CZ-5463-01A-01D-1501-10	12564980	172386880	8528380	18	32530											
SLC34A1	6569	hgsc.bcm.edu;ucsc.edu	37	5	176815364	176815365	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr5:176815364_176815365insT	ENST00000324417.5	+	8	1018_1019	c.927_928insT	c.(928-930)tccfs	p.S310fs	SLC34A1_ENST00000512593.1_Frame_Shift_Ins_p.S310fs	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	310					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCACCCAGACTCCTTACAGGT	0.52																																																0																																										SO:0001589	frameshift_variant	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.928dupT	5.37:g.176815365_176815365dupT	ENSP00000321424:p.Ser310fs		B4DPE3	Frame_Shift_Ins	INS	ENST00000324417.5	37	CCDS4418.1																																																																																				0.52	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		T	176815365	-	T	176815364	7	5	595	1	0	1	1	0	0	0	0	0	14573	564	20	0	953	0	SLC34A1	5	176815364	Frame_Shift_Ins	INS	-	TCGA-CZ-5463-01A-01D-1501-10	4428484	176815364	4099896	19	32531											
OR2J2	26707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	29141585	29141585	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr6:29141585C>A	ENST00000377167.2	+	1	275	c.173C>A	c.(172-174)aCa>aAa	p.T58K		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T58K(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CATCTCCACACACCAATGTAC	0.473																																																1	Substitution - Missense(1)	kidney(1)											166	158	161					6																	29141585		2045	4231	6276	SO:0001583	missense	26707				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.173C>A	6.37:g.29141585C>A	ENSP00000366372:p.Thr58Lys		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543420	0.27563	.	.	ENSG00000204700	ENST00000377167	T	0.00478	7.13	2.3	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	M	0.85542	2.76	0.32231	N	0.574038	D	0.89917	1.0	D	0.91635	0.999	T	0.48031	-0.9070	9	0.72032	D	0.01	.	7.707	0.28657	0.0:0.8586:0.0:0.1414	.	58	O76002	OR2J2_HUMAN	K	58	ENSP00000366372:T58K	ENSP00000366372:T58K	T	+	2	0	OR2J2	29249564	0.000000	0.05858	0.993000	0.49108	0.234000	0.25298	-0.162000	0.10012	0.280000	0.22209	0.205000	0.17691	ACA		0.473	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			A	29141585	C	A	29141585	3	1	595	1	0	0	0	0	1	0	0	0	11005	478	17	4	175	4	OR2J2	6	29141585	Missense_Mutation	SNP	C	TCGA-CZ-5463-01A-01D-1501-10		29141585	141973482	20	32532											
KCNK5	8645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	39162007	39162007	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr6:39162007A>G	ENST00000359534.3	-	4	910	c.572T>C	c.(571-573)aTc>aCc	p.I191T		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	191					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.I191T(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GAGGCCCTCGATGTAGTTCCA	0.567																																																1	Substitution - Missense(1)	kidney(1)											170	135	147					6																	39162007		2203	4300	6503	SO:0001583	missense	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.572T>C	6.37:g.39162007A>G	ENSP00000352527:p.Ile191Thr		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013226	0.75161	.	.	ENSG00000164626	ENST00000359534	T	0.31769	1.48	5.84	3.26	0.37387	Ion transport 2 (1);	0.102884	0.64402	D	0.000006	T	0.11367	0.0277	L	0.35542	1.07	0.58432	D	0.999999	B	0.32893	0.389	B	0.34590	0.186	T	0.05068	-1.0908	10	0.45353	T	0.12	.	8.8271	0.35061	0.7414:0.1323:0.0:0.1263	.	191	O95279	KCNK5_HUMAN	T	191	ENSP00000352527:I191T	ENSP00000352527:I191T	I	-	2	0	KCNK5	39269985	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.325000	0.79124	1.002000	0.39104	0.459000	0.35465	ATC		0.567	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		G	39162007	A	G	39162007	3	3	595	1	0	0	0	0	1	0	0	0	8071	333	12	3	935	3	KCNK5	6	39162007	Missense_Mutation	SNP	A	TCGA-CZ-5463-01A-01D-1501-10	10020422	39162007	131953060	21	32533											
KLHL32	114792	broad.mit.edu;ucsc.edu	37	6	97423877	97423877	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr6:97423877C>A	ENST00000369261.4	+	3	391	c.28C>A	c.(28-30)Caa>Aaa	p.Q10K	KLHL32_ENST00000539200.1_Missense_Mutation_p.Q10K|KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.Q10K	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	10								p.Q10K(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TTGTAGTATTCAAGAAATGCT	0.517																																																1	Substitution - Missense(1)	kidney(1)											64	61	62					6																	97423877		2203	4300	6503	SO:0001583	missense	114792			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.28C>A	6.37:g.97423877C>A	ENSP00000358265:p.Gln10Lys		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119121	0.56505	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.73681	-0.56;-0.6;-0.61;-0.77	5.14	5.14	0.70334	.	0.186130	0.49916	D	0.000140	T	0.55049	0.1896	N	0.14661	0.345	0.80722	D	1	P;B;B;B	0.44006	0.824;0.062;0.085;0.144	P;B;B;B	0.45610	0.487;0.01;0.01;0.035	T	0.57201	-0.7852	10	0.25751	T	0.34	.	18.7846	0.91949	0.0:1.0:0.0:0.0	.	10;10;10;10	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	K	10	ENSP00000358265:Q10K;ENSP00000440382:Q10K;ENSP00000441527:Q10K;ENSP00000358258:Q10K	ENSP00000358258:Q10K	Q	+	1	0	KLHL32	97530598	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.356000	0.59430	2.674000	0.91012	0.591000	0.81541	CAA		0.517	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		A	97423877	C	A	97423877	3	1	595	1	0	0	0	0	1	0	0	0	8388	827	29	4	34	4	KLHL32	6	97423877	Missense_Mutation	SNP	C	TCGA-CZ-5463-01A-01D-1501-10	58261870	97423877	73691190	22	32534											
BCLAF1	9774	broad.mit.edu;hgsc.bcm.edu	37	6	136599666	136599666	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr6:136599666C>A	ENST00000531224.1	-	4	605	c.353G>T	c.(352-354)aGa>aTa	p.R118I	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R118I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R116I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R116I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R118I|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R116I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	118					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R118I(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAAACGGATCTTCTTTTTGG	0.468																																					Colon(142;1534 1789 5427 7063 28491)											1	Substitution - Missense(1)	kidney(1)											178	184	182					6																	136599666		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.353G>T	6.37:g.136599666C>A	ENSP00000435210:p.Arg118Ile		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434793	0.62955	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.74160	0.3680	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.71870	0.975;0.975;0.975;0.975	T	0.75863	-0.3167	10	0.87932	D	0	-11.5288	19.6986	0.96043	0.0:1.0:0.0:0.0	.	116;116;118;118	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	I	118;116;118;118;116;116;118	ENSP00000435210:R118I;ENSP00000229446:R116I;ENSP00000435441:R118I;ENSP00000436501:R118I;ENSP00000434826:R116I;ENSP00000376159:R116I;ENSP00000431734:R118I	ENSP00000229446:R116I	R	-	2	0	BCLAF1	136641359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.655000	0.67981	2.660000	0.90430	0.557000	0.71058	AGA		0.468	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		A	136599666	C	A	136599666	3	1	595	1	0	0	0	0	1	0	0	0	1383	913	32	4	2449	4	BCLAF1	6	136599666	Missense_Mutation	SNP	C	TCGA-CZ-5463-01A-01D-1501-10	39175789	136599666	34515401	23	32535											
CCDC129	223075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	31617614	31617614	+	Missense_Mutation	SNP	G	G	A	rs376757677		TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr7:31617614G>A	ENST00000407970.3	+	8	774	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	CCDC129_ENST00000451887.2_Missense_Mutation_p.A272T|CCDC129_ENST00000409210.1_Missense_Mutation_p.A154T|CCDC129_ENST00000319386.3_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	246								p.A246T(1)|p.?(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGTGAGTGCCGCCAAAGAGCA	0.488																																																2	Substitution - Missense(1)|Unknown(1)	kidney(2)						G	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	74	65	68		736	-0.3	0	7		68	0,8600		0,0,4300	no	missense	CCDC129	NM_194300.2	58	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	246/1045	31617614	3,13003	2203	4300	6503	SO:0001583	missense	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.736G>A	7.37:g.31617614G>A	ENSP00000384416:p.Ala246Thr		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	g	6.452	0.451480	0.12223	6.81E-4	0.0	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.17854	2.52;2.52;2.25	5.38	-0.28	0.12886	.	.	.	.	.	T	0.15003	0.0362	M	0.62723	1.935	0.09310	N	1	B;B;B	0.15719	0.003;0.014;0.014	B;B;B	0.11329	0.003;0.006;0.006	T	0.31364	-0.9946	8	.	.	.	-24.9707	4.2638	0.10754	0.3693:0.0:0.4733:0.1574	.	272;256;246	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	T	246;272;256;154	ENSP00000384416:A246T;ENSP00000395835:A272T;ENSP00000387214:A154T	.	A	+	1	0	CCDC129	31584139	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.003000	0.12901	0.075000	0.16796	-2.632000	0.00153	GCC		0.488	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		A	31617614	G	A	31617614	3	1	595	1	0	0	0	0	1	0	0	0	2766	1087	38	1	762	1	CCDC129	7	31617614	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10		31617614	127521049	24	32536											
AP4M1	9179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99700547	99700547	+	Silent	SNP	T	T	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr7:99700547T>C	ENST00000359593.4	+	4	473	c.315T>C	c.(313-315)aaT>aaC	p.N105N	AP4M1_ENST00000429084.1_Silent_p.N112N|AP4M1_ENST00000421755.1_Silent_p.N105N|MCM7_ENST00000303887.5_5'Flank|AP4M1_ENST00000478501.1_3'UTR|MCM7_ENST00000343023.6_5'Flank|MCM7_ENST00000354230.3_5'Flank|AP4M1_ENST00000422582.1_5'UTR	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	105					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.N105N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTCCCGCAATGTGGCTCTGG	0.542																																					Pancreas(174;1182 2812 29595 49511)											1	Substitution - coding silent(1)	kidney(1)											106	95	99					7																	99700547		2203	4300	6503	SO:0001819	synonymous_variant	9179			Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"mu-adaptin-related protein-2", "mu subunit of AP-4", "AP-4 adapter complex mu subunit", "adaptor-related protein complex AP-4 mu4 subunit"	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.315T>C	7.37:g.99700547T>C			D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	CCDS5685.1																																																																																				0.542	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		C	99700547	T	C	99700547	2	2	595	1	0	0	0	0	0	0	0	1	753	1461	51	3		3	AP4M1	7	99700547	Silent	SNP	T	TCGA-CZ-5463-01A-01D-1501-10	68082933	99700547	59438116	25	32537											
PPP1R3A	5506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	113518058	113518058	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr7:113518058C>A	ENST00000284601.3	-	4	3157	c.3089G>T	c.(3088-3090)gGa>gTa	p.G1030V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1030					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.G1030V(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTACTAATCCTTCATTTTC	0.403																																																1	Substitution - Missense(1)	kidney(1)											195	190	192					7																	113518058		2203	4299	6502	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3089G>T	7.37:g.113518058C>A	ENSP00000284601:p.Gly1030Val		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	7.661	0.684967	0.14973	.	.	ENSG00000154415	ENST00000284601	T	0.19394	2.15	5.71	1.4	0.22301	.	0.453330	0.21283	N	0.077107	T	0.35970	0.0950	M	0.69823	2.125	0.27643	N	0.947641	D	0.71674	0.998	P	0.58721	0.844	T	0.15838	-1.0423	10	0.72032	D	0.01	-9.6112	9.7044	0.40207	0.0:0.5511:0.0:0.4489	.	1030	Q16821	PPR3A_HUMAN	V	1030	ENSP00000284601:G1030V	ENSP00000284601:G1030V	G	-	2	0	PPP1R3A	113305294	0.034000	0.19679	0.154000	0.22540	0.119000	0.20118	0.050000	0.14120	0.355000	0.24131	-0.145000	0.13849	GGA		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113518058	C	A	113518058	3	1	595	1	0	0	0	0	1	0	0	0	12376	855	30	4	283	4	PPP1R3A	7	113518058	Missense_Mutation	SNP	C	TCGA-CZ-5463-01A-01D-1501-10	13817511	113518058	45620605	26	32538											
KCND2	3751	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	119915447	119915447	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr7:119915447G>A	ENST00000331113.4	+	1	1726	c.761G>A	c.(760-762)cGt>cAt	p.R254H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	254					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R254H(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCGCCTAGTCGTTACCGTTTT	0.532																																																2	Substitution - Missense(2)	kidney(1)|endometrium(1)											189	156	168					7																	119915447		2203	4300	6503	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.761G>A	7.37:g.119915447G>A	ENSP00000333496:p.Arg254His		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283180	0.80803	.	.	ENSG00000184408	ENST00000331113	D	0.97831	-4.56	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.93720	3.45	0.54753	D	0.999981	D	0.89917	1.0	D	0.79108	0.992	D	0.99349	1.0914	9	.	.	.	.	19.5635	0.95382	0.0:0.0:1.0:0.0	.	254	Q9NZV8	KCND2_HUMAN	H	254	ENSP00000333496:R254H	.	R	+	2	0	KCND2	119702683	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.062000	0.89475	2.636000	0.89361	0.557000	0.71058	CGT		0.532	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		A	119915447	G	A	119915447	3	1	595	1	0	0	0	0	1	0	0	0	8021	1145	40	1	763	1	KCND2	7	119915447	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10	6397389	119915447	39223216	27	32539											
GALNT11	63917	broad.mit.edu;hgsc.bcm.edu	37	7	151791383	151791383	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr7:151791383T>A	ENST00000434507.1	+	4	508	c.71T>A	c.(70-72)cTt>cAt	p.L24H	GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000430044.2_Missense_Mutation_p.L24H|GALNT11_ENST00000415421.1_Missense_Mutation_p.L24H|GALNT11_ENST00000320311.2_Missense_Mutation_p.L24H|GALNT11_ENST00000422997.2_Missense_Mutation_p.L24H			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	24					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L24H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ACAGTTTTGCTTTTTGTTTAT	0.458																																																1	Substitution - Missense(1)	kidney(1)											208	209	209					7																	151791383		2203	4300	6503	SO:0001583	missense	63917			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.71T>A	7.37:g.151791383T>A	ENSP00000416787:p.Leu24His		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.817958	0.90790	.	.	ENSG00000178234	ENST00000430044;ENST00000431668;ENST00000446096;ENST00000443352;ENST00000423337;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245;ENST00000447796;ENST00000422997	T;T;T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.89354	0.6691	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.959	D	0.89962	0.4087	10	0.54805	T	0.06	.	16.1606	0.81704	0.0:0.0:0.0:1.0	.	24;24	Q8NCW6-2;Q8NCW6	.;GLT11_HUMAN	H	24	ENSP00000395122:L24H;ENSP00000395020:L24H;ENSP00000414890:L24H;ENSP00000393892:L24H;ENSP00000416787:L24H;ENSP00000410093:L24H;ENSP00000315835:L24H;ENSP00000397581:L24H;ENSP00000412142:L24H;ENSP00000389449:L24H	ENSP00000315835:L24H	L	+	2	0	GALNT11	151422316	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.971000	0.76105	2.227000	0.72691	0.460000	0.39030	CTT		0.458	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		A	151791383	T	A	151791383	3	1	595	1	0	0	0	0	1	0	0	0	6211	1609	56	5	73	5	GALNT11	7	151791383	Missense_Mutation	SNP	T	TCGA-CZ-5463-01A-01D-1501-10	31875936	151791383	7347280	28	32540											
NXNL2	158046	broad.mit.edu;hgsc.bcm.edu	37	9	91159434	91159434	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr9:91159434C>A	ENST00000375854.3	+	2	777	c.443C>A	c.(442-444)gCc>gAc	p.A148D	NXNL2_ENST00000487646.2_3'UTR|NXNL2_ENST00000375855.3_Intron	NM_001161625.1	NP_001155097.1	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	148					photoreceptor cell maintenance (GO:0045494)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)			p.A148D(1)		lung(3)	3						GTGGAGGCGGCCGATATCTTC	0.577																																																1	Substitution - Missense(1)	kidney(1)											50	56	54					9																	91159434		692	1591	2283	SO:0001583	missense	158046			BC022521	CCDS6679.1, CCDS55325.1	9q22.2	2008-02-05	2007-08-16	2007-08-16	ENSG00000130045	ENSG00000130045			30482	protein-coding gene	gene with protein product		615299	"chromosome 9 open reading frame 121"	C9orf121		12477932	Standard	NM_001161625		Approved		uc011ltj.2	Q5VZ03	OTTHUMG00000020170	ENST00000375854.3:c.443C>A	9.37:g.91159434C>A	ENSP00000365014:p.Ala148Asp		B1AMD0|Q8TBG6	Missense_Mutation	SNP	ENST00000375854.3	37	CCDS55325.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853904	0.51270	.	.	ENSG00000130045	ENST00000375854	D	0.82344	-1.6	4.72	4.72	0.59763	Thioredoxin-like fold (1);	0.069148	0.56097	D	0.000028	T	0.82135	0.4971	L	0.27053	0.805	0.52501	D	0.999956	D	0.63880	0.993	P	0.56343	0.796	D	0.83870	0.0273	10	0.59425	D	0.04	-16.5596	13.5946	0.61982	0.0:0.8444:0.1556:0.0	.	148	Q5VZ03	NXNL2_HUMAN	D	148	ENSP00000365014:A148D	ENSP00000365014:A148D	A	+	2	0	NXNL2	90349254	1.000000	0.71417	0.061000	0.19648	0.002000	0.02628	5.214000	0.65236	2.439000	0.82584	0.555000	0.69702	GCC		0.577	NXNL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145283		A	91159434	C	A	91159434	3	1	595	1	0	0	0	0	1	0	0	0	10791	739	26	4	449	4	NXNL2	9	91159434	Missense_Mutation	SNP	C	TCGA-CZ-5463-01A-01D-1501-10		91159434	50053997	29	32541											
MED27	9442	broad.mit.edu	37	9	134955076	134955076	+	Silent	SNP	A	A	G			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr9:134955076A>G	ENST00000292035.5	-	1	219	c.156T>C	c.(154-156)ttT>ttC	p.F52F	MED27_ENST00000357028.2_Silent_p.F52F|RP11-32B11.2_ENST00000444872.2_RNA|MED27_ENST00000474263.1_Silent_p.F52F	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	52					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.F52F(3)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		AGTGCGCAATAAAGGCCTTCT	0.647																																					Colon(41;784 923 6932 42329 52483)											3	Substitution - coding silent(3)	endometrium(2)|kidney(1)											79	81	80					9																	134955076		2203	4300	6503	SO:0001819	synonymous_variant	9442			AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.156T>C	9.37:g.134955076A>G			O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Silent	SNP	ENST00000292035.5	37	CCDS6945.1																																																																																				0.647	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		G	134955076	A	G	134955076	2	3	595	1	0	0	0	0	0	0	0	1	9447	359	13	3		3	MED27	9	134955076	Silent	SNP	A	TCGA-CZ-5463-01A-01D-1501-10	43795642	134955076	6258355	30	32542											
TPRN	286262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140093554	140093554	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr9:140093554A>T	ENST00000409012.4	-	1	1696	c.1610T>A	c.(1609-1611)cTc>cAc	p.L537H	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.L476H	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	537					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.L231H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGGCCCCAGGAGGCAACTAGC	0.647																																																1	Substitution - Missense(1)	kidney(1)											84	76	79					9																	140093554		2203	4300	6503	SO:0001583	missense	286262			AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1610T>A	9.37:g.140093554A>T	ENSP00000387100:p.Leu537His		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	A	8.749	0.920834	0.17982	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	3.44	-0.515	0.11954	.	1.578100	0.03841	N	0.270592	T	0.38532	0.1044	N	0.25647	0.755	0.09310	N	1	D	0.63046	0.992	P	0.60345	0.873	T	0.40478	-0.9561	9	0.12766	T	0.61	-0.1996	7.4792	0.27395	0.4767:0.0:0.5233:0.0	.	537	Q4KMQ1	TPRN_HUMAN	H	335;537;476	.	ENSP00000313704:L476H	L	-	2	0	TPRN	139213375	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.013000	0.13310	-0.170000	0.10816	0.459000	0.35465	CTC		0.647	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		T	140093554	A	T	140093554	3	4	595	1	0	0	0	0	1	0	0	0	16426	304	11	5	621	5	TPRN	9	140093554	Missense_Mutation	SNP	A	TCGA-CZ-5463-01A-01D-1501-10	5138478	140093554	1119877	31	32543											
MARCH5	54708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	94110949	94110949	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr10:94110949A>T	ENST00000358935.2	+	6	1154	c.822A>T	c.(820-822)gaA>gaT	p.E274D		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	274					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E274D(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ATTATCCAGAACAAGAAGAAG	0.378																																																1	Substitution - Missense(1)	kidney(1)											81	78	79					10																	94110949		2203	4300	6503	SO:0001583	missense	54708			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26025	protein-coding gene	gene with protein product		610637	"ring finger protein 153"	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.822A>T	10.37:g.94110949A>T	ENSP00000351813:p.Glu274Asp			Missense_Mutation	SNP	ENST00000358935.2	37	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.435501	0.25813	.	.	ENSG00000198060	ENST00000358935	T	0.47869	0.83	5.48	3.43	0.39272	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	L	0.28694	0.88	0.54753	D	0.999985	B	0.13594	0.008	B	0.18561	0.022	T	0.07868	-1.0750	10	0.23891	T	0.37	-7.864	8.3652	0.32382	0.3395:0.0:0.6605:0.0	.	274	Q9NX47	MARH5_HUMAN	D	274	ENSP00000351813:E274D	ENSP00000351813:E274D	E	+	3	2	MARCH5	94100929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.736000	0.38187	1.112000	0.41740	-0.408000	0.06270	GAA		0.378	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		T	94110949	A	T	94110949	3	4	595	1	0	0	0	0	1	0	0	0	9306	40	2	5	844	5	MARCH5	10	94110949	Missense_Mutation	SNP	A	TCGA-CZ-5463-01A-01D-1501-10		94110949	41423798	32	32544											
MUC6	4588	broad.mit.edu;ucsc.edu	37	11	1023622	1023622	+	Missense_Mutation	SNP	G	G	A	rs138887092	byFrequency	TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr11:1023622G>A	ENST00000421673.2	-	26	3463	c.3413C>T	c.(3412-3414)aCg>aTg	p.T1138M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1138					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1138M(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGTCCTGCGTGTGCGTGTT	0.667													G|||	11	0.00219649	0.0	0.0058	5008	,	,		19122	0.0		0.007	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)						G	MET/THR	6,4336		0,6,2165	80	95	90		3413	-0.6	0.3	11	dbSNP_134	90	70,8462		1,68,4197	yes	missense	MUC6	NM_005961.2	81	1,74,6362	AA,AG,GG		0.8204,0.1382,0.5903	probably-damaging	1138/2440	1023622	76,12798	2171	4266	6437	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3413C>T	11.37:g.1023622G>A	ENSP00000406861:p.Thr1138Met		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	9	0.004120879120879121	0	0.0	4	0.011049723756906077	0	0.0	5	0.006596306068601583	G	6.661	0.490528	0.12702	0.001382	0.008204	ENSG00000184956	ENST00000421673	T	0.19394	2.15	4.1	-0.631	0.11526	.	0.683335	0.10981	U	0.612641	T	0.16896	0.0406	L	0.40543	1.245	0.09310	N	1	D	0.71674	0.998	P	0.56474	0.799	T	0.12319	-1.0552	10	0.51188	T	0.08	.	2.7872	0.05377	0.0913:0.3472:0.2138:0.3476	.	1138	Q6W4X9	MUC6_HUMAN	M	1138	ENSP00000406861:T1138M	ENSP00000406861:T1138M	T	-	2	0	MUC6	1013622	0.000000	0.05858	0.264000	0.24511	0.103000	0.19146	-0.010000	0.12743	0.284000	0.22305	-0.337000	0.08149	ACG		0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		A	1023622	G	A	1023622	3	1	595	1	0	0	0	0	1	0	0	0	9982	1145	40	1	3938	1	MUC6	11	1023622	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10		1023622	133982894	33	32545											
OR4S2	219431	broad.mit.edu;ucsc.edu	37	11	55418663	55418663	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr11:55418663G>T	ENST00000312422.2	+	1	284	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95F(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TATGTGGGGTGCATGTTGCAA	0.423																																																1	Substitution - Missense(1)	kidney(1)											237	196	210					11																	55418663		2185	4045	6230	SO:0001583	missense	219431			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.284G>T	11.37:g.55418663G>T	ENSP00000310337:p.Cys95Phe		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836713	0.71373	.	.	ENSG00000174982	ENST00000312422	T	0.00547	6.66	5.36	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.05044	0.0135	H	0.98701	4.305	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	T	0.01078	-1.1459	10	0.87932	D	0	.	12.6497	0.56753	0.0811:0.0:0.9189:0.0	.	95	Q8NH73	OR4S2_HUMAN	F	95	ENSP00000310337:C95F	ENSP00000310337:C95F	C	+	2	0	OR4S2	55175239	1.000000	0.71417	0.940000	0.37924	0.986000	0.74619	4.409000	0.59768	1.267000	0.44247	0.549000	0.68633	TGC		0.423	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		T	55418663	G	T	55418663	3	4	595	1	0	0	0	0	1	0	0	0	11085	1319	46	4	286	4	OR4S2	11	55418663	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10	54395041	55418663	79587853	34	32546											
MMP8	4317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	102595498	102595498	+	Missense_Mutation	SNP	G	G	T	rs201146217		TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr11:102595498G>T	ENST00000236826.3	-	1	187	c.89C>A	c.(88-90)aCa>aAa	p.T30K		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	30					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.T30K(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AACAGTTTTTGTATTTTTCTC	0.368																																																1	Substitution - Missense(1)	kidney(1)											130	153	145					11																	102595498		2203	4299	6502	SO:0001583	missense	4317			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.89C>A	11.37:g.102595498G>T	ENSP00000236826:p.Thr30Lys		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.63|11.63	1.694975|1.694975	0.30052|0.30052	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000236826|ENST00000438475	T|.	0.36157|.	1.27|.	5.09|5.09	-3.79|-3.79	0.04320|0.04320	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);|.	2.332680|.	0.01575|.	N|.	0.020740|.	T|.	0.19366|.	0.0465|.	N|N	0.16602|0.16602	0.42|0.42	0.09310|0.09310	N|N	1|1	B|.	0.14805|.	0.011|.	B|.	0.19666|.	0.026|.	T|.	0.32640|.	-0.9899|.	10|.	0.30078|.	T|.	0.28|.	.|.	7.6567|7.6567	0.28379|0.28379	0.6592:0.1597:0.181:0.0|0.6592:0.1597:0.181:0.0	.|.	30|.	P22894|.	MMP8_HUMAN|.	K|X	30|5	ENSP00000236826:T30K|.	ENSP00000236826:T30K|.	T|Y	-|-	2|3	0|2	MMP8|MMP8	102100708|102100708	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-1.138000|-1.138000	0.03216|0.03216	-0.541000|-0.541000	0.06257|0.06257	0.650000|0.650000	0.86243|0.86243	ACA|TAC		0.368	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		T	102595498	G	T	102595498	3	4	595	1	0	0	0	0	1	0	0	0	9670	1377	48	4	1354	4	MMP8	11	102595498	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10	47176835	102595498	32411018	35	32547											
MMP12	4321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	102736586	102736586	+	RNA	SNP	A	A	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr11:102736586A>C	ENST00000532855.1	-	0	1221							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F376V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TTTTTCACAAAGTTAGGAAAA	0.343																																																1	Substitution - Missense(1)	kidney(1)											69	68	69					11																	102736586		1797	4064	5861			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102736586A>C			B2R9X8|B7ZLF6|Q2M1L9	Silent	SNP	ENST00000532855.1	37																																																																																					0.343	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		C	102736586	A	C	102736586	1	2	595	0	1	0	0	0	0	0	0	0	9653	72	3	5		5	MMP12	11	102736586	RNA	SNP	A	TCGA-CZ-5463-01A-01D-1501-10	141088	102736586	32269930	36	32548											
B4GALNT3	283358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	667220	667220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr12:667220C>A	ENST00000266383.5	+	17	2586	c.2573C>A	c.(2572-2574)tCa>tAa	p.S858*		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	858					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.S858*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTTGAACGCTCAGCTGGACTT	0.552																																																1	Substitution - Nonsense(1)	kidney(1)											83	80	81					12																	667220		2203	4300	6503	SO:0001587	stop_gained	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2573C>A	12.37:g.667220C>A	ENSP00000266383:p.Ser858*		Q6ZNC1|Q8N7T6	Nonsense_Mutation	SNP	ENST00000266383.5	37	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	41	8.913157	0.99000	.	.	ENSG00000139044	ENST00000266383	.	.	.	4.97	4.97	0.65823	.	0.187153	0.48286	D	0.000189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5938	18.6071	0.91271	0.0:1.0:0.0:0.0	.	.	.	.	X	858	.	ENSP00000266383:S858X	S	+	2	0	B4GALNT3	537481	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.440000	0.80464	2.454000	0.82982	0.561000	0.74099	TCA		0.552	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		A	667220	C	A	667220	4	1	595	1	0	0	0	0	0	1	0	0	1268	838	29	4	2639	4	B4GALNT3	12	667220	Nonsense_Mutation	SNP	C	TCGA-CZ-5463-01A-01D-1501-10		667220	133184675	37	32549											
LPCAT3	10162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7090783	7090783	+	Silent	SNP	A	A	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr12:7090783A>C	ENST00000261407.4	-	5	556	c.471T>G	c.(469-471)gtT>gtG	p.V157V	LPCAT3_ENST00000535021.1_5'Flank|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	157					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)	p.V157V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						CAAAGTAGTCAACAGCCAAAC	0.483																																																1	Substitution - coding silent(1)	kidney(1)											118	116	117					12																	7090783		2203	4300	6503	SO:0001819	synonymous_variant	10162			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.471T>G	12.37:g.7090783A>C			B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Silent	SNP	ENST00000261407.4	37	CCDS8572.1																																																																																				0.483	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		C	7090783	A	C	7090783	2	2	595	1	0	0	0	0	0	0	0	1	8914	117	5	5		5	LPCAT3	12	7090783	Silent	SNP	A	TCGA-CZ-5463-01A-01D-1501-10	6423563	7090783	126761112	38	32550											
CD163L1	283316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7526111	7526111	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr12:7526111T>A	ENST00000313599.3	-	14	3592	c.3535A>T	c.(3535-3537)Att>Ttt	p.I1179F	CD163L1_ENST00000396630.1_Missense_Mutation_p.I1179F|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.I1189F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1179	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.I1179F(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTGCACACAATGCCTGCTATG	0.542																																																1	Substitution - Missense(1)	kidney(1)											161	146	151					12																	7526111		2203	4300	6503	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3535A>T	12.37:g.7526111T>A	ENSP00000315945:p.Ile1179Phe		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249858	0.39797	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35605	1.3;1.3;1.3	2.28	-3.61	0.04556	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.820030	0.04169	U	0.324428	T	0.53384	0.1793	M	0.62723	1.935	0.09310	N	1	D;D	0.76494	0.992;0.999	P;D	0.71184	0.841;0.972	T	0.55952	-0.8059	10	0.87932	D	0	.	8.4413	0.32816	0.0:0.3013:0.0:0.6987	.	1189;1179	E7EVK4;Q9NR16	.;C163B_HUMAN	F	1179;1189;1179	ENSP00000315945:I1179F;ENSP00000393474:I1189F;ENSP00000379871:I1179F	ENSP00000315945:I1179F	I	-	1	0	CD163L1	7417378	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.618000	0.05578	-0.855000	0.04125	-0.385000	0.06624	ATT		0.542	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		A	7526111	T	A	7526111	3	1	595	1	0	0	0	0	1	0	0	0	2970	1464	51	5	850	5	CD163L1	12	7526111	Missense_Mutation	SNP	T	TCGA-CZ-5463-01A-01D-1501-10	435328	7526111	126325784	39	32551											
ZMYM2	7750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	20660011	20660011	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr13:20660011T>C	ENST00000382874.2	+	26	4181	c.3991T>C	c.(3991-3993)Tgc>Cgc	p.C1331R	ZMYM2_ENST00000382869.3_Missense_Mutation_p.C1331R|ZMYM2_ENST00000382871.2_Missense_Mutation_p.C1331R	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.C1331R(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GCAACCAGAATGCTCTAGTTC	0.393																																																2	Substitution - Missense(2)	kidney(2)											89	84	85					13																	20660011		1834	4080	5914	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3991T>C	13.37:g.20660011T>C	ENSP00000372327:p.Cys1331Arg		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	T	5.695	0.312846	0.10789	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.14516	2.5	5.87	0.19	0.15125	.	0.405251	0.33110	N	0.005265	T	0.02047	0.0064	N	0.00510	-1.415	0.80722	D	1	B	0.22909	0.077	B	0.21360	0.034	T	0.39272	-0.9622	10	0.02654	T	1	-1.1351	1.1906	0.01864	0.24:0.1338:0.1245:0.5017	.	1331	Q9UBW7	ZMYM2_HUMAN	R	1331;1331;1329;1329;709	ENSP00000372322:C1331R	ENSP00000372322:C1331R	C	+	1	0	ZMYM2	19558011	0.998000	0.40836	0.997000	0.53966	0.995000	0.86356	0.507000	0.22675	0.104000	0.17725	0.482000	0.46254	TGC		0.393	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		C	20660011	T	C	20660011	3	2	595	1	0	0	0	0	1	0	0	0	17705	1464	51	3	4081	3	ZMYM2	13	20660011	Missense_Mutation	SNP	T	TCGA-CZ-5463-01A-01D-1501-10		20660011	94509867	40	32552											
ZC3H13	23091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	46543242	46543242	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr13:46543242G>C	ENST00000242848.4	-	14	3785	c.3437C>G	c.(3436-3438)aCc>aGc	p.T1146S	ZC3H13_ENST00000378921.2_Missense_Mutation_p.T102S|ZC3H13_ENST00000282007.3_Missense_Mutation_p.T1146S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1146							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.T1146S(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATTATtggtggtattggtggg	0.488																																					Esophageal Squamous(187;747 2077 11056 31291 44172)											1	Substitution - Missense(1)	kidney(1)											114	111	112					13																	46543242		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3437C>G	13.37:g.46543242G>C	ENSP00000242848:p.Thr1146Ser		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	0.022	-1.418251	0.01136	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.42900	2.56;0.96;1.56	3.47	-2.21	0.06973	.	1.250210	0.05678	N	0.589825	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.13361	-1.0512	10	0.09590	T	0.72	.	0.877	0.01226	0.2085:0.2823:0.3231:0.1862	.	1146;1146	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	S	1146;102;1146	ENSP00000242848:T1146S;ENSP00000368201:T102S;ENSP00000282007:T1146S	ENSP00000242848:T1146S	T	-	2	0	ZC3H13	45441243	0.011000	0.17503	0.000000	0.03702	0.172000	0.22775	-0.044000	0.12023	-0.532000	0.06332	0.655000	0.94253	ACC		0.488	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		C	46543242	G	C	46543242	3	2	595	1	0	0	0	0	1	0	0	0	17570	1261	44	4	1273	4	ZC3H13	13	46543242	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10	25883231	46543242	68626636	41	32553											
CLDN10	9071	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	96230215	96230215	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr13:96230215G>C	ENST00000299339.2	+	5	663	c.634G>C	c.(634-636)Gat>Cat	p.D212H	CLDN10_ENST00000376873.3_Missense_Mutation_p.D210H	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	212					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.D212H(1)|p.D210H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TGGTGGAGAAGATTTTAAAAC	0.378																																																2	Substitution - Missense(2)	kidney(2)											106	103	104					13																	96230215		2203	4300	6503	SO:0001583	missense	9071			U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"Claudins"	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.634G>C	13.37:g.96230215G>C	ENSP00000299339:p.Asp212His		Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000299339.2	37	CCDS9476.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640021	0.67244	.	.	ENSG00000134873	ENST00000376873;ENST00000299339	D;D	0.92348	-3.02;-2.81	5.18	5.18	0.71444	.	0.750045	0.13250	N	0.402152	D	0.89424	0.6711	N	0.19112	0.55	0.80722	D	1	P;P;D	0.53885	0.902;0.902;0.963	P;P;P	0.48114	0.547;0.547;0.567	D	0.88924	0.3368	10	0.45353	T	0.12	.	16.8965	0.86102	0.0:0.0:1.0:0.0	.	212;212;210	Q6IBF9;P78369;Q96N78	.;CLD10_HUMAN;.	H	210;212	ENSP00000366069:D210H;ENSP00000299339:D212H	ENSP00000299339:D212H	D	+	1	0	CLDN10	95028216	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.433000	0.59929	2.403000	0.81681	0.650000	0.86243	GAT		0.378	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1	NM_006984		C	96230215	G	C	96230215	3	2	595	1	0	0	0	0	1	0	0	0	3474	942	33	4	870	4	CLDN10	13	96230215	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10	49686973	96230215	18939663	42	32554											
MAX	4149	hgsc.bcm.edu;ucsc.edu	37	14	65560495	65560495	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr14:65560495delT	ENST00000358664.4	-	3	232	c.102delA	c.(100-102)aaafs	p.K34fs	MAX_ENST00000557746.1_Frame_Shift_Del_p.K25fs|MAX_ENST00000555419.1_Intron|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000555667.1_Frame_Shift_Del_p.K25fs|MAX_ENST00000555932.1_Intron|MAX_ENST00000341653.2_Frame_Shift_Del_p.K34fs|RP11-840I19.3_ENST00000556127.1_RNA|MAX_ENST00000246163.2_Frame_Shift_Del_p.K34fs|MAX_ENST00000556979.1_Frame_Shift_Del_p.K34fs|MAX_ENST00000557277.1_5'UTR|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000284165.6_Frame_Shift_Del_p.K34fs|MAX_ENST00000358402.4_Frame_Shift_Del_p.K25fs|RP11-840I19.3_ENST00000553633.1_RNA|MAX_ENST00000556443.1_Frame_Shift_Del_p.K25fs	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	34	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GGTCCCTACGTTTTCGTTCCA	0.483																																																0													198	161	173					14																	65560495		2203	4300	6503	SO:0001589	frameshift_variant	4149				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.102delA	14.37:g.65560495delT	ENSP00000351490:p.Lys34fs		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Frame_Shift_Del	DEL	ENST00000358664.4	37	CCDS9771.1																																																																																				0.483	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		-	65560495	T	-	65560495	7	5	595	1	0	1	0	1	0	0	0	0	9341	1722	60	0	732	0	MAX	14	65560495	Frame_Shift_Del	DEL	T	TCGA-CZ-5463-01A-01D-1501-10		65560495	41789045	43	32555											
VPS13C	54832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	62214721	62214721	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr15:62214721G>C	ENST00000261517.5	-	54	6923	c.6850C>G	c.(6850-6852)Caa>Gaa	p.Q2284E	VPS13C_ENST00000395896.4_Missense_Mutation_p.Q2284E|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q2241E|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q2241E	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.Q2284E(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGGTAACTTGAATGGATTCT	0.378																																																2	Substitution - Missense(2)	kidney(2)											179	171	174					15																	62214721		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6850C>G	15.37:g.62214721G>C	ENSP00000261517:p.Gln2284Glu			Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860763	0.71834	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.46063	0.88;0.88;0.88	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.44871	0.1314	M	0.72118	2.19	0.80722	D	1	B;P;B;B	0.40360	0.012;0.714;0.377;0.374	B;B;B;B	0.36464	0.026;0.225;0.225;0.112	T	0.45891	-0.9230	10	0.31617	T	0.26	.	18.8268	0.92122	0.0:0.0:1.0:0.0	.	2241;2284;2241;2284	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	E	2241;2284;2284;2284	ENSP00000249837:Q2241E;ENSP00000261517:Q2284E;ENSP00000379233:Q2284E	ENSP00000249837:Q2241E	Q	-	1	0	VPS13C	60002013	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	8.783000	0.91813	2.519000	0.84933	0.650000	0.86243	CAA		0.378	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		C	62214721	G	C	62214721	3	2	595	1	0	0	0	0	1	0	0	0	17196	1299	45	4	4567	4	VPS13C	15	62214721	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10		62214721	40316671	44	32556											
ZNF609	23060	hgsc.bcm.edu;ucsc.edu	37	15	64967099	64967099	+	Silent	SNP	C	C	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr15:64967099C>A	ENST00000326648.3	+	4	2174	c.2046C>A	c.(2044-2046)ggC>ggA	p.G682G		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	682						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGAGCCCAGGCTCTTCCTCAG	0.582																																																0													92	90	90					15																	64967099		2203	4299	6502	SO:0001819	synonymous_variant	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2046C>A	15.37:g.64967099C>A			Q0D2I2	Silent	SNP	ENST00000326648.3	37	CCDS32270.1																																																																																				0.582	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		A	64967099	C	A	64967099	2	1	595	1	0	0	0	0	0	0	0	1	18040	784	28	4		4	ZNF609	15	64967099	Silent	SNP	C	TCGA-CZ-5463-01A-01D-1501-10	2752378	64967099	37564293	45	32557											
SLCO3A1	28232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	92669422	92669422	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr15:92669422G>A	ENST00000318445.6	+	6	1520	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.V436I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	436					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V436I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TGCTTGCTACGTCTCCTTCCT	0.587																																																1	Substitution - Missense(1)	kidney(1)											212	157	176					15																	92669422		2198	4298	6496	SO:0001583	missense	28232			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1306G>A	15.37:g.92669422G>A	ENSP00000320634:p.Val436Ile		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314534	0.23908	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.80480	-1.38;-1.38	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	N	0.15975	0.35	0.80722	D	1	B;B;B	0.15719	0.001;0.007;0.014	B;B;B	0.21917	0.001;0.007;0.037	T	0.63033	-0.6727	10	0.18276	T	0.48	.	19.3564	0.94416	0.0:0.0:1.0:0.0	.	378;436;436	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	I	436;436;155	ENSP00000320634:V436I;ENSP00000387846:V436I	ENSP00000320634:V436I	V	+	1	0	SLCO3A1	90470426	1.000000	0.71417	0.986000	0.45419	0.719000	0.41307	9.152000	0.94680	2.572000	0.86782	0.561000	0.74099	GTC		0.587	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		A	92669422	G	A	92669422	3	1	595	1	0	0	0	0	1	0	0	0	14734	1145	40	1	1328	1	SLCO3A1	15	92669422	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10	27702323	92669422	9861970	46	32558											
C16orf3	2622	hgsc.bcm.edu;ucsc.edu	37	16	90095480	90095480	+	Intron	SNP	T	T	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr16:90095480T>A	ENST00000268699.4	+	2	212				GAS8_ENST00000540721.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.S91C|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		TGTGAGCTGCTGCCCGTCTCC	0.607																																																0													90	49	63					16																	90095480		2081	4082	6163	SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1350T>A	16.37:g.90095480T>A			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.257156	0.22965	.	.	ENSG00000221819	ENST00000408886	T	0.54675	0.56	1.68	1.68	0.24146	.	.	.	.	.	T	0.38214	0.1032	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	P	0.53450	0.726	T	0.13335	-1.0513	8	.	.	.	.	5.4552	0.16586	0.0:0.0:0.0:1.0	.	99	O95177	CP003_HUMAN	C	91	ENSP00000386218:S91C	.	S	-	1	0	C16orf3	88622981	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.151000	0.16283	1.050000	0.40346	0.379000	0.24179	AGC		0.607	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			A	90095480	T	A	90095480	1	1	595	0	1	0	0	0	0	0	0	0	1814	1580	55	5		5	C16orf3	16	90095480	Intron	SNP	T	TCGA-CZ-5463-01A-01D-1501-10		90095480	259273	47	32559											
ZMYND15	84225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4647403	4647403	+	Splice_Site	SNP	G	G	T			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr17:4647403G>T	ENST00000433935.1	+	8	1552		c.e8+1		ZMYND15_ENST00000573751.2_Splice_Site|ZMYND15_ENST00000592813.1_Intron|ZMYND15_ENST00000269289.6_Intron	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15						negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.?(1)		endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CCCCAGTCCTGTAAGGAGAGC	0.597																																																1	Unknown(1)	kidney(1)											60	59	59					17																	4647403		692	1591	2283	SO:0001630	splice_region_variant	84225			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1495+1G>T	17.37:g.4647403G>T			B4DXY5|I3L296	Splice_Site	SNP	ENST00000433935.1	37	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691432	0.68271	.	.	ENSG00000141497	ENST00000433935	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2324	0.82356	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZMYND15	4594152	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.606000	0.67641	2.701000	0.92244	0.563000	0.77884	.		0.597	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265	Intron	T	4647403	G	T	4647403	5	4	595	1	0	0	0	0	0	0	1	0	17713	1391	48	4	1522	4	ZMYND15	17	4647403	Splice_Site	SNP	G	TCGA-CZ-5463-01A-01D-1501-10		4647403	76547807	48	32560											
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000420246.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	CAAACACGCACCTCAAAGCTG	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	GRCh37	CM920676	TP53	M	rs121912657						62	54	57					17																	7577124		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met		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	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		T	7577124	C	T	7577124	3	4	595	1	0	0	0	0	1	0	0	0	16386	507	18	2	472	2	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-CZ-5463-01A-01D-1501-10	2929721	7577124	73618086	49	32561											
TMEM98	26022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	31260288	31260288	+	Silent	SNP	C	C	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr17:31260288C>A	ENST00000579849.1	+	4	659	c.228C>A	c.(226-228)gcC>gcA	p.A76A	TMEM98_ENST00000394642.3_Silent_p.A76A|TMEM98_ENST00000578289.1_Silent_p.A76A	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	76						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A76A(1)		kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			ACATTGAGGCCATTCTGGAGA	0.532																																																1	Substitution - coding silent(1)	kidney(1)											167	148	155					17																	31260288		2203	4300	6503	SO:0001819	synonymous_variant	26022			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.228C>A	17.37:g.31260288C>A			E1P631|Q9UFK2	Silent	SNP	ENST00000579849.1	37	CCDS11274.1																																																																																				0.532	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		A	31260288	C	A	31260288	2	1	595	1	0	0	0	0	0	0	0	1	16230	581	21	4		4	TMEM98	17	31260288	Silent	SNP	C	TCGA-CZ-5463-01A-01D-1501-10	23683164	31260288	49934922	50	32562											
ZNF677	342926	broad.mit.edu;hgsc.bcm.edu	37	19	53740523	53740523	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr19:53740523G>T	ENST00000598513.1	-	5	1607	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	ZNF677_ENST00000333952.4_Missense_Mutation_p.P486H	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P486H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ACATTTGTAAGGTTTCTCTCC	0.363																																																1	Substitution - Missense(1)	kidney(1)											72	72	72					19																	53740523		2203	4300	6503	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1457C>A	19.37:g.53740523G>T	ENSP00000469391:p.Pro486His			Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360273	0.41801	.	.	ENSG00000197928	ENST00000333952	T	0.17528	2.27	2.21	2.21	0.28008	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.233852	0.22344	N	0.061281	T	0.25232	0.0613	M	0.91249	3.19	0.24673	N	0.993405	P	0.47409	0.895	B	0.37943	0.261	T	0.41270	-0.9518	10	0.87932	D	0	.	10.5214	0.44920	0.0:0.0:1.0:0.0	.	486	Q86XU0	ZN677_HUMAN	H	486	ENSP00000334394:P486H	ENSP00000334394:P486H	P	-	2	0	ZNF677	58432335	0.995000	0.38212	1.000000	0.80357	0.862000	0.49288	2.561000	0.45905	1.559000	0.49555	0.655000	0.94253	CCT		0.363	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		T	53740523	G	T	53740523	3	4	595	1	0	0	0	0	1	0	0	0	18089	1000	35	4	301	4	ZNF677	19	53740523	Missense_Mutation	SNP	G	TCGA-CZ-5463-01A-01D-1501-10		53740523	5388460	51	32563											
NLRP7	199713	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55450708	55450708	+	Silent	SNP	G	G	A			TCGA-CZ-5463-01A-01D-1501-10	TCGA-CZ-5463-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3732539b-eb77-485b-81a1-83be956a9a87	d9a813ec-eb29-45c1-9324-55d38bf59c12	g.chr19:55450708G>A	ENST00000590030.1	-	3	1519	c.1479C>T	c.(1477-1479)caC>caT	p.H493H	NLRP7_ENST00000448121.2_Silent_p.H493H|NLRP7_ENST00000340844.2_Silent_p.H493H|NLRP7_ENST00000328092.5_Silent_p.H493H|NLRP7_ENST00000446217.1_Silent_p.H521H|NLRP7_ENST00000588756.1_Silent_p.H493H|NLRP7_ENST00000592784.1_Silent_p.H493H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	493							ATP binding (GO:0005524)	p.H493H(4)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTCCCAGGCGTGGCCGTCCC	0.567																																																4	Substitution - coding silent(4)	large_intestine(2)|kidney(2)											65	63	64					19																	55450708		2203	4300	6503	SO:0001819	synonymous_variant	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1479C>T	19.37:g.55450708G>A			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	CCDS33109.1																																																																																				0.567	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		A	55450708	G	A	55450708	2	1	595	1	0	0	0	0	0	0	0	1	10484	1136	40	1		1	NLRP7	19	55450708	Silent	SNP	G	TCGA-CZ-5463-01A-01D-1501-10	1710185	55450708	3678275	52	32564											
CATSPER4	378807	broad.mit.edu;ucsc.edu	37	1	26524568	26524568	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:26524568G>A	ENST00000456354.2	+	5	745	c.678G>A	c.(676-678)ctG>ctA	p.L226L		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	226					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.L226L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCATGCTGGTCAGTGCCT	0.602																																																1	Substitution - coding silent(1)	kidney(1)											182	166	171					1																	26524568		2203	4300	6503	SO:0001630	splice_region_variant	378807			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.678+1G>A	1.37:g.26524568G>A			A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	CCDS30645.1																																																																																				0.602	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137	Silent	A	26524568	G	A	26524568	5	1	596	1	0	0	0	0	0	0	1	0	2692	1362	47	2	696	2	CATSPER4	1	26524568	Splice_Site	SNP	G	TCGA-CZ-5465-01A-01D-1806-10		26524568	222726053	1	32565											
PUM1	9698	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	31447563	31447563	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:31447563C>T	ENST00000257075.5	-	10	1534	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	PUM1_ENST00000373741.4_Missense_Mutation_p.A517T|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000373742.2_Missense_Mutation_p.A422T|PUM1_ENST00000426105.2_Missense_Mutation_p.A481T|PUM1_ENST00000373747.3_Missense_Mutation_p.A482T|PUM1_ENST00000440538.2_Missense_Mutation_p.A482T|PUM1_ENST00000423018.2_Missense_Mutation_p.A385T|PUM1_ENST00000424085.2_Missense_Mutation_p.A239T	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	481	Ala-rich.|Gln-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.A481T(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCTGCAGCGGCAGCGGCAGCT	0.507																																																1	Substitution - Missense(1)	kidney(1)											62	62	62					1																	31447563		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1441G>A	1.37:g.31447563C>T	ENSP00000257075:p.Ala481Thr		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.862048|4.862048	0.91433|0.91433	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952|ENST00000525843;ENST00000498419;ENST00000532678	T;T;T;T;T;T;T;T|.	0.18016|.	2.24;2.27;2.49;2.48;2.5;2.46;2.5;2.27|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.047154|.	0.85682|.	D|.	0.000000|.	T|T	0.66963|0.66963	0.2843|0.2843	L|L	0.37630|0.37630	1.12|1.12	0.58432|0.58432	D|D	0.999999|0.999999	D;P;D;D;D;D;D;D|.	0.59357|.	0.985;0.948;0.973;0.969;0.985;0.973;0.985;0.985|.	P;P;P;P;P;P;P;P|.	0.55923|.	0.638;0.588;0.638;0.766;0.638;0.638;0.638;0.787|.	T|T	0.58769|0.58769	-0.7578|-0.7578	10|5	0.56958|.	D|.	0.05|.	-7.754|-7.754	20.4549|20.4549	0.99139|0.99139	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	422;385;517;482;481;481;482;481|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	T|Y	239;481;482;219;481;482;517;385;422;481|498;192;168	ENSP00000400141:A239T;ENSP00000257075:A481T;ENSP00000362852:A482T;ENSP00000391723:A481T;ENSP00000401777:A482T;ENSP00000362846:A517T;ENSP00000399440:A385T;ENSP00000362847:A422T|.	ENSP00000257075:A481T|.	A|C	-|-	1|2	0|0	PUM1|PUM1	31220150|31220150	1.000000|1.000000	0.71417|0.71417	0.309000|0.309000	0.25155|0.25155	0.789000|0.789000	0.44602|0.44602	5.931000|5.931000	0.70113|0.70113	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.507	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			T	31447563	C	T	31447563	3	4	596	1	0	0	0	0	1	0	0	0	12831	710	25	2	2177	2	PUM1	1	31447563	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	4922995	31447563	217803058	2	32566											
COL9A2	1298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40777201	40777201	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:40777201delG	ENST00000372748.3	-	10	586	c.490delC	c.(490-492)cagfs	p.Q164fs		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	164	Nonhelical region 4 (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TCCAGACCCTGGATGGTTCCC	0.652																																																0													71	74	73					1																	40777201		2203	4300	6503	SO:0001589	frameshift_variant	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.490delC	1.37:g.40777201delG	ENSP00000361834:p.Gln164fs		B2RMP9	Frame_Shift_Del	DEL	ENST00000372748.3	37	CCDS450.1																																																																																				0.652	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		-	40777201	G	-	40777201	7	5	596	1	0	1	0	1	0	0	0	0	3710	1357	47	0	1671	0	COL9A2	1	40777201	Frame_Shift_Del	DEL	G	TCGA-CZ-5465-01A-01D-1806-10	9329638	40777201	208473420	3	32567											
USP24	23358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	55642115	55642115	+	Splice_Site	SNP	A	A	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:55642115A>T	ENST00000294383.6	-	3	491	c.492T>A	c.(490-492)ggT>ggA	p.G164G	USP24_ENST00000407756.1_Splice_Site_p.G52G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	164					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G133G(1)|p.G164G(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACTCGGAAAGACCTTAGTAAA	0.323																																																2	Substitution - coding silent(2)	kidney(2)											65	60	61					1																	55642115		1822	4083	5905	SO:0001630	splice_region_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.491-1T>A	1.37:g.55642115A>T			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	CCDS44154.2																																																																																				0.323	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		Silent	T	55642115	A	T	55642115	5	4	596	1	0	0	0	0	0	0	1	0	17060	289	10	5	7634	5	USP24	1	55642115	Splice_Site	SNP	A	TCGA-CZ-5465-01A-01D-1806-10	14864914	55642115	193608506	4	32568											
CD101	9398	broad.mit.edu;ucsc.edu	37	1	117561137	117561137	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:117561137G>T	ENST00000256652.4	+	6	2030	c.1972G>T	c.(1972-1974)Gct>Tct	p.A658S	CD101_ENST00000369470.1_Missense_Mutation_p.A658S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	658	Ig-like C2-type 6.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.A658S(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCCCCGAGGGCTTCTGCCAT	0.448																																																1	Substitution - Missense(1)	kidney(1)											53	56	55					1																	117561137		2203	4300	6503	SO:0001583	missense	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1972G>T	1.37:g.117561137G>T	ENSP00000256652:p.Ala658Ser		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655672	0.47467	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.05447	3.44;3.44	5.02	5.02	0.67125	Immunoglobulin subtype (1);	0.305300	0.23610	N	0.046360	T	0.06781	0.0173	M	0.63428	1.95	0.24673	N	0.993402	P	0.51537	0.946	P	0.48952	0.596	T	0.06320	-1.0833	10	0.49607	T	0.09	-5.9469	13.716	0.62697	0.0:0.0:1.0:0.0	.	658	Q93033	IGSF2_HUMAN	S	658	ENSP00000256652:A658S;ENSP00000358482:A658S	ENSP00000256652:A658S	A	+	1	0	CD101	117362660	0.975000	0.34042	0.975000	0.42487	0.172000	0.22775	6.171000	0.71926	2.618000	0.88619	0.655000	0.94253	GCT		0.448	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		T	117561137	G	T	117561137	3	4	596	1	0	0	0	0	1	0	0	0	2964	1203	42	4	1994	4	CD101	1	117561137	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	61919022	117561137	131689484	5	32569											
FCGR3B	2214	broad.mit.edu;hgsc.bcm.edu	37	1	161599725	161599725	+	Intron	SNP	C	C	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:161599725C>T	ENST00000540048.1	-	2	94				FCGR3B_ENST00000531221.1_Silent_p.E90E|FCGR3B_ENST00000367964.2_Silent_p.E54E|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000294800.3_Silent_p.E54E|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E54E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGAATTGTCCTCAGGGGAGT	0.527																																																1	Substitution - coding silent(1)	kidney(1)											66	70	68					1																	161599725		2162	4296	6458	SO:0001627	intron_variant	2215			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+432G>A	1.37:g.161599725C>T			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000540048.1	37		.	.	.	.	.	.	.	.	.	.	C	1.939	-0.443986	0.04604	.	.	ENSG00000162747	ENST00000421702	.	.	.	2.79	-0.634	0.11516	.	.	.	.	.	T	0.09774	0.0240	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35101	-0.9802	4	.	.	.	.	5.2065	0.15293	0.0:0.4136:0.0:0.5864	.	.	.	.	R	75	.	.	G	-	1	0	FCGR3B	159866349	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.997000	0.03705	0.018000	0.15052	-0.529000	0.04317	GGA		0.527	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		T	161599725	C	T	161599725	1	4	596	0	1	0	0	0	0	0	0	0	5787	680	24	2		2	FCGR3B	1	161599725	Intron	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	44038588	161599725	87650896	6	32570											
CENPL	91687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	173780412	173780412	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:173780412G>C	ENST00000345664.6	-	2	239	c.26C>G	c.(25-27)tCa>tGa	p.S9*	CENPL_ENST00000367710.3_Nonsense_Mutation_p.S9*|Y_RNA_ENST00000516548.1_RNA|CENPL_ENST00000356198.2_Nonsense_Mutation_p.S9*	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	9					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.S9*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						ACTAGGAGTTGACTCTGGTGC	0.408																																																1	Substitution - Nonsense(1)	kidney(1)											120	126	124					1																	173780412		2203	4300	6503	SO:0001587	stop_gained	91687			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"chromosome 1 open reading frame 155"	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.26C>G	1.37:g.173780412G>C	ENSP00000323543:p.Ser9*		Q5TEL5|Q96ND4	Nonsense_Mutation	SNP	ENST00000345664.6	37	CCDS30938.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079473	0.36662	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	.	.	.	5.21	0.834	0.18880	.	1.825180	0.02817	N	0.125027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.7025	0.34334	0.3773:0.0:0.6227:0.0	.	.	.	.	X	9	.	ENSP00000323543:S9X	S	-	2	0	CENPL	172047035	0.003000	0.15002	0.000000	0.03702	0.138000	0.21146	0.565000	0.23578	0.218000	0.20820	0.561000	0.74099	TCA		0.408	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		C	173780412	G	C	173780412	4	2	596	1	0	0	0	0	0	1	0	0	3238	1294	45	4	1166	4	CENPL	1	173780412	Nonsense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	12180687	173780412	75470209	7	32571											
CFHR3	10878	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	196749100	196749100	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:196749100G>T	ENST00000367425.4	+	3	519	c.427G>T	c.(427-429)Gtc>Ttc	p.V143F	CFHR3_ENST00000471440.2_Missense_Mutation_p.V143F|CFHR3_ENST00000391985.3_Missense_Mutation_p.V143F	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	143				V -> D (in Ref. 1; CAA48639). {ECO:0000305}.		blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V143F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						ATGCATCCGTGTCAGTAAGTA	0.478																																																1	Substitution - Missense(1)	kidney(1)											80	79	80					1																	196749100		1904	4139	6043	SO:0001583	missense	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.427G>T	1.37:g.196749100G>T	ENSP00000356395:p.Val143Phe		B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923466	0.33908	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.74947	0.6;0.6;-0.89	3.67	-4.29	0.03721	Complement control module (1);	.	.	.	.	T	0.64897	0.2640	N	0.24115	0.695	0.09310	N	1	P;D;D	0.69078	0.617;0.997;0.996	B;D;P	0.65987	0.423;0.94;0.7	T	0.57740	-0.7759	9	0.15952	T	0.53	.	0.9706	0.01415	0.4591:0.1648:0.2095:0.1666	.	143;143;143	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	F	143	ENSP00000356395:V143F;ENSP00000436258:V143F;ENSP00000375845:V143F	ENSP00000356395:V143F	V	+	1	0	CFHR3	195015723	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.756000	0.04777	-0.317000	0.08677	0.398000	0.26397	GTC		0.478	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		T	196749100	G	T	196749100	3	4	596	1	0	0	0	0	1	0	0	0	3288	1377	48	4	437	4	CFHR3	1	196749100	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	22968688	196749100	52501521	8	32572											
SRGAP2	647135	broad.mit.edu;hgsc.bcm.edu	37	1	206516309	206516309	+	IGR	SNP	A	A	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:206516309A>G								CTSE (184205 upstream) : SRGAP2-AS1 (35909 downstream)														p.N37S(1)									CCTGAATAATATCATTCCTCG	0.453																																																1	Substitution - Missense(1)	kidney(1)											20	18	18					1																	206516309		1826	4059	5885	SO:0001628	intergenic_variant	23380																															1.37:g.206516309A>G				Missense_Mutation	SNP		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.946|3.946	-0.013282|-0.013282	0.07727|0.07727	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000414359|ENST00000295713	.|.	.|.	.|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65365|0.65365	0.2684|0.2684	.|.	.|.	.|.	0.31700|.	N|.	0.640816|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.71457|0.71457	-0.4587|-0.4587	5|3	0.13470|.	T|.	0.59|.	.|.	14.5359|14.5359	0.67960|0.67960	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	V|C	38|37	.|.	ENSP00000408089:I38V|.	I|Y	+|+	1|2	0|0	SRGAP2|SRGAP2	204582932|204582932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	2.909000|2.909000	0.48758|0.48758	1.838000|1.838000	0.53458|0.53458	0.454000|0.454000	0.30748|0.30748	ATC|TAT	0	0.453									G	206516309	A	G	206516309	1	3	596	0	1	0	0	0	0	0	0	0	15151	449	16	3		3	SRGAP2	1	206516309	IGR	SNP	A	TCGA-CZ-5465-01A-01D-1806-10	9767209	206516309	42734312	9	32573											
USH2A	7399	broad.mit.edu;ucsc.edu	37	1	215848923	215848923	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:215848923G>T	ENST00000307340.3	-	63	12716	c.12330C>A	c.(12328-12330)taC>taA	p.Y4110*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Y4110*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4110	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Y4110*(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAAACCAGAGTACTCCAGGA	0.488										HNSCC(13;0.011)																																						1	Substitution - Nonsense(1)	kidney(1)											70	66	67					1																	215848923		2203	4300	6503	SO:0001587	stop_gained	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12330C>A	1.37:g.215848923G>T	ENSP00000305941:p.Tyr4110*		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	54	21.785565	0.99943	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.25	4.13	0.48395	.	0.000000	0.41001	D	0.000975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7198	0.69297	0.0819:0.0:0.9181:0.0	.	.	.	.	X	4110	.	ENSP00000305941:Y4110X	Y	-	3	2	USH2A	213915546	0.906000	0.30813	0.932000	0.37286	0.099000	0.18886	1.089000	0.30890	2.454000	0.82982	0.650000	0.86243	TAC		0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	215848923	G	T	215848923	4	4	596	1	0	0	0	0	0	1	0	0	17041	1024	36	4	3318	4	USH2A	1	215848923	Nonsense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	9332614	215848923	33401698	10	32574											
SPATA17	128153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	217947704	217947704	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:217947704G>T	ENST00000366933.4	+	7	603	c.548G>T	c.(547-549)aGa>aTa	p.R183I		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	183						cytoplasm (GO:0005737)		p.R183I(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TCACCCTTCAGAAAAGAGCCT	0.378																																																1	Substitution - Missense(1)	kidney(1)											83	82	82					1																	217947704		2203	4300	6503	SO:0001583	missense	128153			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.548G>T	1.37:g.217947704G>T	ENSP00000355900:p.Arg183Ile		A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190511	0.78789	.	.	ENSG00000162814	ENST00000366933	T	0.48201	0.82	5.45	4.53	0.55603	.	0.048454	0.85682	D	0.000000	T	0.65801	0.2726	M	0.78916	2.43	0.53688	D	0.99997	D	0.69078	0.997	D	0.65773	0.938	T	0.69932	-0.5011	10	0.72032	D	0.01	-11.2255	11.3603	0.49640	0.0697:0.1267:0.8037:0.0	.	183	Q96L03	SPT17_HUMAN	I	183	ENSP00000355900:R183I	ENSP00000355900:R183I	R	+	2	0	SPATA17	216014327	1.000000	0.71417	0.828000	0.32881	0.981000	0.71138	4.655000	0.61476	1.429000	0.47314	0.563000	0.77884	AGA		0.378	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		T	217947704	G	T	217947704	3	4	596	1	0	0	0	0	1	0	0	0	15007	942	33	4	574	4	SPATA17	1	217947704	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	2098781	217947704	31302917	11	32575											
TRIM11	81559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	228582654	228582654	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:228582654A>T	ENST00000284551.6	-	6	1437	c.1159T>A	c.(1159-1161)Tac>Aac	p.Y387N	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000493030.2_Missense_Mutation_p.Y262N	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	387	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y387N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GAGGAATTGTAATAGCTCCCC	0.617																																																1	Substitution - Missense(1)	kidney(1)											91	96	94					1																	228582654		2203	4300	6503	SO:0001583	missense	81559			AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1159T>A	1.37:g.228582654A>T	ENSP00000284551:p.Tyr387Asn		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.860911	0.32884	.	.	ENSG00000154370	ENST00000284551	T	0.68765	-0.35	4.76	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.162003	0.29459	N	0.012097	D	0.85544	0.5721	H	0.95402	3.665	0.21325	N	0.999723	D;P	0.76494	0.999;0.642	D;B	0.69307	0.963;0.361	T	0.80320	-0.1432	10	0.72032	D	0.01	.	12.5428	0.56182	1.0:0.0:0.0:0.0	.	386;387	Q96F44-3;Q96F44	.;TRI11_HUMAN	N	387	ENSP00000284551:Y387N	ENSP00000284551:Y387N	Y	-	1	0	TRIM11	226649277	0.792000	0.28813	0.696000	0.30242	0.123000	0.20343	2.717000	0.47227	1.920000	0.55613	0.496000	0.49642	TAC		0.617	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		T	228582654	A	T	228582654	3	4	596	1	0	0	0	0	1	0	0	0	16492	362	13	5	251	5	TRIM11	1	228582654	Missense_Mutation	SNP	A	TCGA-CZ-5465-01A-01D-1806-10	10634950	228582654	20667967	12	32576											
C1orf101	257044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	244715945	244715945	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:244715945T>A	ENST00000366534.4	+	9	912	c.858T>A	c.(856-858)agT>agA	p.S286R	C1orf101_ENST00000366531.3_Missense_Mutation_p.S135R|C1orf101_ENST00000366533.4_Missense_Mutation_p.S286R|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	286						CatSper complex (GO:0036128)		p.S286R(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAAGACGGAGTGTGGCTCATG	0.408																																																2	Substitution - Missense(2)	kidney(2)											175	162	167					1																	244715945		2203	4300	6503	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.858T>A	1.37:g.244715945T>A	ENSP00000355492:p.Ser286Arg		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452861	0.63290	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T	0.34472	1.37;1.37;1.36	5.6	-5.12	0.02893	.	0.672139	0.14932	N	0.290003	T	0.25044	0.0608	L	0.50333	1.59	0.09310	N	1	P;P;P	0.40431	0.717;0.634;0.634	B;B;B	0.40066	0.318;0.232;0.232	T	0.13872	-1.0493	10	0.72032	D	0.01	.	4.0676	0.09868	0.3384:0.3034:0.0:0.3582	.	206;286;286	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	R	286;286;286;206;135	ENSP00000355492:S286R;ENSP00000355491:S286R;ENSP00000395796:S206R	ENSP00000355489:S135R	S	+	3	2	C1orf101	242782568	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	-0.754000	0.04787	-0.680000	0.05211	0.533000	0.62120	AGT		0.408	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		A	244715945	T	A	244715945	3	1	596	1	0	0	0	0	1	0	0	0	1978	1693	59	5	892	5	C1orf101	1	244715945	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	16133291	244715945	4534676	13	32577											
OR2L8	391190	broad.mit.edu;hgsc.bcm.edu	37	1	248112361	248112361	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr1:248112361delA	ENST00000357191.3	+	1	202	c.202delA	c.(202-204)attfs	p.I68fs	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCTCTCCCTCATTGACCTAAA	0.443																																																0													359	313	329					1																	248112361		2203	4300	6503	SO:0001589	frameshift_variant	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.202delA	1.37:g.248112361delA	ENSP00000349719:p.Ile68fs		Q6IF03	Frame_Shift_Del	DEL	ENST00000357191.3	37	CCDS31101.1																																																																																				0.443	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			-	248112361	A	-	248112361	7	5	596	1	0	1	0	1	0	0	0	0	11011	217	8	0	204	0	OR2L8	1	248112361	Frame_Shift_Del	DEL	A	TCGA-CZ-5465-01A-01D-1806-10	3396416	248112361	1138260	14	32578											
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32605236	32605236	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr2:32605236T>C	ENST00000421745.2	+	3	657	c.523T>C	c.(523-525)Tca>Cca	p.S175P	BIRC6-AS1_ENST00000455572.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	175					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.S147P(1)|p.S175P(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCAGCTCTTATCAGCATGTTT	0.299																																					Pancreas(94;175 1509 16028 18060 45422)											2	Substitution - Missense(2)	kidney(2)											31	28	29					2																	32605236		2200	4294	6494	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.523T>C	2.37:g.32605236T>C	ENSP00000393596:p.Ser175Pro		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	15.60	2.881229	0.51801	.	.	ENSG00000115760	ENST00000421745	T	0.75050	-0.9	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000002	T	0.68412	0.2998	L	0.36672	1.1	0.51767	D	0.999932	D	0.55385	0.971	B	0.44315	0.446	T	0.71241	-0.4651	10	0.46703	T	0.11	.	14.9192	0.70822	0.0:0.0:0.0:1.0	.	175	Q9NR09	BIRC6_HUMAN	P	175	ENSP00000393596:S175P	ENSP00000393596:S175P	S	+	1	0	BIRC6	32458740	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.991000	0.88244	1.914000	0.55421	0.460000	0.39030	TCA		0.299	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		C	32605236	T	C	32605236	3	2	596	1	0	0	0	0	1	0	0	0	1438	1435	50	3	533	3	BIRC6	2	32605236	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10		32605236	210594137	15	32579											
EIF2AK2	5610	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	37347219	37347219	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr2:37347219C>G	ENST00000233057.4	-	13	1453	c.1131G>C	c.(1129-1131)tgG>tgC	p.W377C	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.W336C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.W377C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	377	Interaction with TRAF5.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)	p.W377C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTTTTTCAATCCATTGTTCCA	0.328																																																1	Substitution - Missense(1)	kidney(1)											84	82	83					2																	37347219		2203	4300	6503	SO:0001583	missense	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.1131G>C	2.37:g.37347219C>G	ENSP00000233057:p.Trp377Cys		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244241	0.39697	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.64991	-0.13;-0.13;-0.13	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.136878	0.34362	N	0.004040	T	0.74160	0.3680	L	0.43646	1.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76005	-0.3117	10	0.72032	D	0.01	-9.9498	18.0447	0.89328	0.0:1.0:0.0:0.0	.	377;377;377;336	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	C	377;377;336;324	ENSP00000233057:W377C;ENSP00000378559:W377C;ENSP00000385014:W336C	ENSP00000233057:W377C	W	-	3	0	EIF2AK2	37200723	1.000000	0.71417	0.895000	0.35142	0.013000	0.08279	4.923000	0.63412	2.636000	0.89361	0.650000	0.86243	TGG		0.328	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		G	37347219	C	G	37347219	3	3	596	1	0	0	0	0	1	0	0	0	4999	856	30	4	544	4	EIF2AK2	2	37347219	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	4741983	37347219	205852154	16	32580											
LRPPRC	10128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44209499	44209499	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr2:44209499G>T	ENST00000260665.7	-	2	281	c.224C>A	c.(223-225)tCt>tAt	p.S75Y	LRPPRC_ENST00000409659.1_Missense_Mutation_p.S75Y|LRPPRC_ENST00000409946.1_Missense_Mutation_p.S75Y	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	75					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.S75Y(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTCCTAGAAGAAAAAGTGGA	0.383																																																1	Substitution - Missense(1)	kidney(1)											54	59	57					2																	44209499		2202	4300	6502	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.224C>A	2.37:g.44209499G>T	ENSP00000260665:p.Ser75Tyr		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165095	0.38217	.	.	ENSG00000138095	ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	T;T;T;T	0.64803	0.49;0.48;0.48;-0.12	4.76	1.25	0.21368	.	1.273000	0.05459	N	0.550907	T	0.56702	0.2003	M	0.62723	1.935	0.09310	N	1	P;P	0.51653	0.9;0.947	B;B	0.43536	0.423;0.271	T	0.45498	-0.9257	10	0.28530	T	0.3	-14.6462	2.815	0.05453	0.214:0.1293:0.5084:0.1483	.	49;75	C9JCA9;P42704	.;LPPRC_HUMAN	Y	75;75;75;49	ENSP00000260665:S75Y;ENSP00000386234:S75Y;ENSP00000386562:S75Y;ENSP00000403637:S49Y	ENSP00000260665:S75Y	S	-	2	0	LRPPRC	44063003	0.000000	0.05858	0.003000	0.11579	0.097000	0.18754	0.181000	0.16880	0.461000	0.27071	0.655000	0.94253	TCT		0.383	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		T	44209499	G	T	44209499	3	4	596	1	0	0	0	0	1	0	0	0	8967	942	33	4	4108	4	LRPPRC	2	44209499	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	6862280	44209499	198989874	17	32581											
BCL11A	53335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	60780394	60780394	+	Silent	SNP	G	G	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr2:60780394G>A	ENST00000335712.6	-	1	239	c.12C>T	c.(10-12)cgC>cgT	p.R4R	BCL11A_ENST00000358510.4_Silent_p.R4R|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.R4R|BCL11A_ENST00000359629.5_Silent_p.R4R|BCL11A_ENST00000538214.1_Silent_p.R4R	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	4	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.R4R(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCCTTGCTTGCGGCGAGACA	0.597			T	IGH@	B-CLL																																		Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	3	Substitution - coding silent(3)	kidney(3)											26	27	27					2																	60780394		2202	4299	6501	SO:0001819	synonymous_variant	53335			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.12C>T	2.37:g.60780394G>A			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	CCDS1862.1																																																																																				0.597	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		A	60780394	G	A	60780394	2	1	596	1	0	0	0	0	0	0	0	1	1363	1306	46	2		2	BCL11A	2	60780394	Silent	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	16570895	60780394	182418979	18	32582											
ANAPC1	64682	broad.mit.edu;hgsc.bcm.edu	37	2	112539971	112539971	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr2:112539971C>G	ENST00000341068.3	-	43	5949	c.5177G>C	c.(5176-5178)aGg>aCg	p.R1726T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1726					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.R1726T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTCAGAGTTCCTGTTAGCAAC	0.433																																																1	Substitution - Missense(1)	kidney(1)											13	14	14					2																	112539971		2172	4272	6444	SO:0001583	missense	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5177G>C	2.37:g.112539971C>G	ENSP00000339109:p.Arg1726Thr		Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.72|14.72	2.619735|2.619735	0.46736|0.46736	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000427997|ENST00000341068	.|.	.|.	.|.	4.24|4.24	4.24|4.24	0.50183|0.50183	.|.	.|0.000000	.|0.52532	.|D	.|0.000065	T|T	0.50582|0.50582	0.1624|0.1624	L|L	0.53249|0.53249	1.67|1.67	0.41203|0.41203	D|D	0.986383|0.986383	.|B	.|0.34214	.|0.442	.|B	.|0.30029	.|0.11	T|T	0.51228|0.51228	-0.8732|-0.8732	5|9	.|0.17832	.|T	.|0.49	-14.0217|-14.0217	17.0094|17.0094	0.86401|0.86401	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1726	.|Q9H1A4	.|APC1_HUMAN	H|T	1260|1726	.|.	.|ENSP00000339109:R1726T	Q|R	-|-	3|2	2|0	ANAPC1|ANAPC1	112256442|112256442	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	3.084000|3.084000	0.50143|0.50143	2.060000|2.060000	0.61445|0.61445	0.484000|0.484000	0.47621|0.47621	CAG|AGG		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		G	112539971	C	G	112539971	3	3	596	1	0	0	0	0	1	0	0	0	598	681	24	4	681	4	ANAPC1	2	112539971	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	51759577	112539971	130659402	19	32583											
CLASP1	23332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	122206531	122206531	+	Silent	SNP	T	T	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr2:122206531T>C	ENST00000263710.4	-	17	2078	c.1689A>G	c.(1687-1689)ctA>ctG	p.L563L	CLASP1_ENST00000409078.3_Silent_p.L563L|CLASP1_ENST00000455322.2_Silent_p.L563L|CLASP1_ENST00000541859.1_Silent_p.L332L|CLASP1_ENST00000545861.1_Silent_p.L331L|CLASP1_ENST00000397587.3_Silent_p.L563L|CLASP1_ENST00000541377.1_Silent_p.L563L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	563	Ser-rich.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.L563L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCTCTTACTTTAGACTCTCTT	0.418																																																1	Substitution - coding silent(1)	kidney(1)											72	71	72					2																	122206531		1911	4129	6040	SO:0001819	synonymous_variant	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1689A>G	2.37:g.122206531T>C			B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	ENST00000263710.4	37																																																																																					0.418	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		C	122206531	T	C	122206531	2	2	596	1	0	0	0	0	0	0	0	1	3456	1741	61	3		3	CLASP1	2	122206531	Silent	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	9666560	122206531	120992842	20	32584											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179569401	179569401	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr2:179569401G>A	ENST00000591111.1	-	103	29071	c.28847C>T	c.(28846-28848)tCg>tTg	p.S9616L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S9933L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8689L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13692					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)	p.S8689L(1)		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)			TTTGTACCACGAAAGCTTGAT	0.338																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28847C>T	2.37:g.179569401G>A	ENSP00000465570:p.Ser9616Leu		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	18.03	3.533523	0.64972	.	.	ENSG00000155657	ENST00000342992	T	0.70516	-0.49	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81197	0.4772	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81722	-0.0803	9	0.87932	D	0	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	9616	Q8WZ42	TITIN_HUMAN	L	8689	ENSP00000343764:S8689L	ENSP00000343764:S8689L	S	-	2	0	TTN	179277646	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	TCG		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179569401	G	A	179569401	3	1	596	1	0	0	0	0	1	0	0	0	16740	1059	37	1	74763	1	TTN	2	179569401	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	57362870	179569401	63629972	21	32585											
ERBB4	2066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	212587123	212587123	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr2:212587123C>A	ENST00000342788.4	-	7	1188	c.878G>T	c.(877-879)tGt>tTt	p.C293F	ERBB4_ENST00000484474.1_5'Flank|ERBB4_ENST00000402597.1_Missense_Mutation_p.C293F|ERBB4_ENST00000436443.1_Missense_Mutation_p.C293F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	293	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C293F(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTTACGTGGACATTTCTTGAC	0.323										TSP Lung(8;0.080)																																						1	Substitution - Missense(1)	kidney(1)											157	143	147					2																	212587123		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.878G>T	2.37:g.212587123C>A	ENSP00000342235:p.Cys293Phe		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.563384|4.563384	0.86335|0.86335	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.70399|.	-0.48;-0.48;-0.48|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88463|0.88463	0.6443|0.6443	H|H	0.96111|0.96111	3.77|3.77	0.80722|0.80722	D|D	1|1	D;D;P;D;D|.	0.89917|.	1.0;0.999;0.916;1.0;1.0|.	D;D;P;D;D|.	0.97110|.	0.999;0.99;0.785;0.999;1.0|.	D|D	0.91549|0.91549	0.5255|0.5255	9|5	.|.	.|.	.|.	.|.	19.7763|19.7763	0.96395|0.96395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	293;293;152;293;293|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	F|F	293|293	ENSP00000342235:C293F;ENSP00000403204:C293F;ENSP00000385565:C293F|.	.|.	C|V	-|-	2|1	0|0	ERBB4|ERBB4	212295368|212295368	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	7.756000|7.756000	0.85195|0.85195	2.684000|2.684000	0.91462|0.91462	0.650000|0.650000	0.86243|0.86243	TGT|GTC		0.323	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		A	212587123	C	A	212587123	3	1	596	1	0	0	0	0	1	0	0	0	5211	478	17	4	3136	4	ERBB4	2	212587123	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	33017722	212587123	30612250	22	32586											
ABCA12	26154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	215876834	215876834	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr2:215876834delT	ENST00000272895.7	-	16	2201	c.1982delA	c.(1981-1983)aagfs	p.K661fs	ABCA12_ENST00000389661.4_Frame_Shift_Del_p.K343fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	661					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTACTGGCTTTTGATCTTT	0.383																																					Ovarian(66;664 1488 5121 34295)											0													161	158	159					2																	215876834		2203	4300	6503	SO:0001589	frameshift_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1982delA	2.37:g.215876834delT	ENSP00000272895:p.Lys661fs		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL	ENST00000272895.7	37	CCDS33372.1																																																																																				0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		-	215876834	T	-	215876834	7	5	596	1	0	1	0	1	0	0	0	0	30	1609	56	0	5957	0	ABCA12	2	215876834	Frame_Shift_Del	DEL	T	TCGA-CZ-5465-01A-01D-1806-10	3289711	215876834	27322539	23	32587											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191480	10191480	+	Frame_Shift_Del	DEL	T	T	-	rs121913346		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr3:10191480delT	ENST00000256474.2	+	3	1313	c.473delT	c.(472-474)ctgfs	p.L158fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.L117fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158Q(6)|p.L158P(5)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158>?(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGTATACTCTGAAAGAGCGA	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(12)|Deletion - Frameshift(6)|Deletion - In frame(3)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)	kidney(24)	GRCh37	CI024083|CI962364|CM941379	VHL	I|M	rs121913346						89	82	84					3																	10191480		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.473delT	3.37:g.10191480delT	ENSP00000256474:p.Leu158fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191480	T	-	10191480	7	5	596	1	0	1	0	1	0	0	0	0	17167	1580	55	0	483	0	VHL	3	10191480	Frame_Shift_Del	DEL	T	TCGA-CZ-5465-01A-01D-1806-10		10191480	187830950	24	32588											
SEMA3B	7869	hgsc.bcm.edu	37	3	50310781	50310781	+	RNA	SNP	C	C	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr3:50310781C>T	ENST00000418948.1	+	0	951							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACCCAGACGACGACAAAATCT	0.622											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													43	48	47					3																	50310781		1912	4111	6023			7869			U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50310781C>T		968	Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	Missense_Mutation	SNP	ENST00000418948.1	37																																																																																					0.622	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		T	50310781	C	T	50310781	1	4	596	0	1	0	0	0	0	0	0	0	14031	535	19	1		1	SEMA3B	3	50310781	RNA	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	40119301	50310781	147711649	25	32589											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52696199	52696199	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr3:52696199delC	ENST00000296302.7	-	4	479	c.478delG	c.(478-480)gaafs	p.E160fs	PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E160fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E160fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E160fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.E160fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E160fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E160fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E160fs			Q86U86	PB1_HUMAN	polybromo 1	160			E -> A (found in a malignant melanoma cell line). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E160*(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATCATCTTCGTCATCTGCT	0.453			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											333	291	306					3																	52696199		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.478delG	3.37:g.52696199delC	ENSP00000296302:p.Glu160fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.453	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52696199	C	-	52696199	7	5	596	1	0	1	0	1	0	0	0	0	11493	893	31	0	4530	0	PBRM1	3	52696199	Frame_Shift_Del	DEL	C	TCGA-CZ-5465-01A-01D-1806-10	2385418	52696199	145326231	26	32590											
PROS1	5627	broad.mit.edu	37	3	93643084	93643084	+	Splice_Site	SNP	C	C	T	rs557733421		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr3:93643084C>T	ENST00000394236.3	-	3	575	c.259G>A	c.(259-261)Gtt>Att	p.V87I	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	87	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.		V -> L (in THPH5). {ECO:0000269|PubMed:15238143}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.V87I(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTGAACTTACCTAAGTATTTT	0.264																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CS971880|CX973310	PROS1	S|X							44	44	44					3																	93643084		2183	4280	6463	SO:0001630	splice_region_variant	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.259+1G>A	3.37:g.93643084C>T			A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822372	0.50739	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.99766	-6.69;-6.69	4.33	4.33	0.51752	Gamma-carboxyglutamic acid-rich (GLA) domain (3);	0.811935	0.11149	N	0.594309	D	0.98692	0.9561	L	0.34521	1.04	0.80722	D	1	B	0.22604	0.072	B	0.26202	0.067	D	0.99797	1.1034	9	.	.	.	.	10.4768	0.44670	0.0:0.904:0.0:0.096	.	87	P07225	PROS_HUMAN	I	87;119	ENSP00000377783:V87I;ENSP00000330021:V119I	.	V	-	1	0	PROS1	95125774	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.562000	0.36353	2.416000	0.81992	0.549000	0.68633	GTT		0.264	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	Missense_Mutation	T	93643084	C	T	93643084	5	4	596	1	0	0	0	0	0	0	1	0	12563	695	24	2	1823	2	PROS1	3	93643084	Splice_Site	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	40946885	93643084	104379346	27	32591											
DRD3	1814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113858457	113858457	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr3:113858457C>G	ENST00000460779.1	-	6	902	c.613G>C	c.(613-615)Gtc>Ctc	p.V205L	DRD3_ENST00000295881.7_Missense_Mutation_p.V205L|DRD3_ENST00000467632.1_Missense_Mutation_p.V205L|DRD3_ENST00000383673.2_Missense_Mutation_p.V205L	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	205					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.V205L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TAGACAAGGACAGTCACTCCA	0.507																																																1	Substitution - Missense(1)	kidney(1)											189	177	181					3																	113858457		2203	4300	6503	SO:0001583	missense	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.613G>C	3.37:g.113858457C>G	ENSP00000419402:p.Val205Leu		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	4.023	0.001802	0.07819	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.12	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.066861	0.64402	D	0.000009	T	0.32585	0.0834	N	0.01535	-0.81	0.54753	D	0.999984	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.40942	-0.9536	10	0.02654	T	1	.	11.7225	0.51691	0.0:0.7174:0.2826:0.0	.	205;205;205;205	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	L	205	ENSP00000419402:V205L;ENSP00000420662:V205L;ENSP00000373169:V205L;ENSP00000295881:V205L	ENSP00000281274:V205L	V	-	1	0	DRD3	115341147	1.000000	0.71417	0.920000	0.36463	0.515000	0.34225	4.464000	0.60134	2.658000	0.90341	0.655000	0.94253	GTC		0.507	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		G	113858457	C	G	113858457	3	3	596	1	0	0	0	0	1	0	0	0	4760	478	17	4	601	4	DRD3	3	113858457	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	20215373	113858457	84163973	28	32592											
GAP43	2596	broad.mit.edu;hgsc.bcm.edu	37	3	115395305	115395305	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr3:115395305C>T	ENST00000305124.6	+	2	842	c.476C>T	c.(475-477)gCc>gTc	p.A159V	GAP43_ENST00000393780.3_Missense_Mutation_p.A195V	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	159					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A195V(1)|p.A159V(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GCTGAAGATGCCCCAGCCAAG	0.597																																																2	Substitution - Missense(2)	kidney(2)											34	36	35					3																	115395305		2203	4297	6500	SO:0001583	missense	2596				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.476C>T	3.37:g.115395305C>T	ENSP00000305010:p.Ala159Val		A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716928	0.68844	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.54071	0.59;0.59	5.75	-0.89	0.10577	Neuromodulin (GAP-43), C-terminal (1);	0.555420	0.20068	N	0.099932	T	0.46288	0.1385	L	0.53249	1.67	0.22112	N	0.999357	B;B	0.24768	0.111;0.016	B;B	0.23275	0.045;0.012	T	0.43540	-0.9385	10	0.62326	D	0.03	2.1681	14.2174	0.65802	0.0:0.3972:0.5416:0.0612	.	195;159	A8K0Y4;P17677	.;NEUM_HUMAN	V	159;195	ENSP00000305010:A159V;ENSP00000377372:A195V	ENSP00000305010:A159V	A	+	2	0	GAP43	116877995	1.000000	0.71417	0.193000	0.23327	0.990000	0.78478	1.030000	0.30153	-0.495000	0.06659	-0.165000	0.13383	GCC		0.597	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		T	115395305	C	T	115395305	3	4	596	1	0	0	0	0	1	0	0	0	6237	739	26	2	624	2	GAP43	3	115395305	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	1536848	115395305	82627125	29	32593											
C3orf1	51300	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	119217644	119217644	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr3:119217644G>C	ENST00000494664.1	+	1	266	c.64G>C	c.(64-66)Gtc>Ctc	p.V22L	RP11-190C22.8_ENST00000609598.1_lincRNA|TIMMDC1_ENST00000493694.1_Missense_Mutation_p.V22L	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	22						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.V22L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ATTTCCCCGAGTCTTTGCTGC	0.582																																																1	Substitution - Missense(1)	kidney(1)											126	135	132					3																	119217644		2203	4300	6503	SO:0001583	missense	0			AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"chromosome 3 open reading frame 1"	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.64G>C	3.37:g.119217644G>C	ENSP00000418803:p.Val22Leu		D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	37	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741933	0.89573	.	.	ENSG00000113845	ENST00000494664;ENST00000493694;ENST00000466984	T;T;T	0.60797	1.03;0.33;0.16	5.12	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.68317	2.08	0.24208	N	0.995487	B	0.28880	0.226	B	0.31101	0.124	T	0.53443	-0.8438	10	0.51188	T	0.08	-13.7228	9.785	0.40670	0.0936:0.0:0.9064:0.0	.	22	Q9NPL8	TIDC1_HUMAN	L	22	ENSP00000418803:V22L;ENSP00000419510:V22L;ENSP00000420122:V22L	ENSP00000264244:V22L	V	+	1	0	TIMMDC1	120700334	0.981000	0.34729	0.710000	0.30468	0.621000	0.37620	2.762000	0.47597	1.521000	0.48983	0.650000	0.86243	GTC		0.582	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		C	119217644	G	C	119217644	3	2	596	1	0	0	0	0	1	0	0	0	2208	1029	36	4	66	4	C3orf1	3	119217644	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	3822339	119217644	78804786	30	32594											
PARP14	54625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122437546	122437546	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr3:122437546G>T	ENST00000474629.2	+	14	4814	c.4548G>T	c.(4546-4548)aaG>aaT	p.K1516N	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K1353N(1)|p.K1516N(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CGATGATCAAGAGAGTTCGAT	0.388																																																2	Substitution - Missense(2)	kidney(2)											210	205	207					3																	122437546		1902	4140	6042	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4548G>T	3.37:g.122437546G>T	ENSP00000418194:p.Lys1516Asn		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359412	0.61403	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.29397	1.57	5.05	3.21	0.36854	.	0.296252	0.28724	N	0.014351	T	0.49389	0.1554	M	0.74881	2.28	0.33738	D	0.619026	D;D	0.89917	1.0;0.995	D;P	0.83275	0.996;0.871	T	0.60910	-0.7169	10	0.49607	T	0.09	.	6.7554	0.23510	0.3345:0.0:0.6655:0.0	.	1516;1516	Q460N5-4;Q460N5	.;PAR14_HUMAN	N	1516;1435;119;512	ENSP00000418194:K1516N	ENSP00000310633:K119N	K	+	3	2	PARP14	123920236	0.158000	0.22850	0.982000	0.44146	0.945000	0.59286	0.434000	0.21494	1.343000	0.45638	0.650000	0.86243	AAG		0.388	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		T	122437546	G	T	122437546	3	4	596	1	0	0	0	0	1	0	0	0	11460	933	33	4	4602	4	PARP14	3	122437546	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	3219902	122437546	75584884	31	32595											
IGSF10	285313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	151161389	151161389	+	Silent	SNP	T	T	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr3:151161389T>A	ENST00000282466.3	-	5	5345	c.5346A>T	c.(5344-5346)gcA>gcT	p.A1782A	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1782	Ig-like C2-type 4.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.A1782A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGTTTGGTTTGCAAGAATCC	0.493																																																1	Substitution - coding silent(1)	kidney(1)											125	111	116					3																	151161389		2203	4300	6503	SO:0001819	synonymous_variant	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5346A>T	3.37:g.151161389T>A			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																				0.493	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		A	151161389	T	A	151161389	2	1	596	1	0	0	0	0	0	0	0	1	7599	1799	63	5		5	IGSF10	3	151161389	Silent	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	28723843	151161389	46861041	32	32596											
OCIAD2	132299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	48887578	48887578	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr4:48887578A>G	ENST00000508632.1	-	7	620	c.388T>C	c.(388-390)Tgc>Cgc	p.C130R	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Silent_p.T90T	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	130						endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)		p.C130R(1)		kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						GTAAGGAGGCAGTGCCTAGAA	0.383																																																1	Substitution - Missense(1)	kidney(1)											139	133	135					4																	48887578		2203	4300	6503	SO:0001583	missense	132299			BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.388T>C	4.37:g.48887578A>G	ENSP00000423014:p.Cys130Arg		B4DPE7|Q8N544	Missense_Mutation	SNP	ENST00000508632.1	37	CCDS33981.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352153	0.61183	.	.	ENSG00000145247	ENST00000508632	T	0.55930	0.49	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	.	.	.	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.71307	-0.4632	8	.	.	.	-4.9143	11.4785	0.50312	1.0:0.0:0.0:0.0	.	130	Q56VL3	OCAD2_HUMAN	R	130	ENSP00000423014:C130R	.	C	-	1	0	OCIAD2	48582335	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	4.596000	0.61055	2.207000	0.71202	0.460000	0.39030	TGC		0.383	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398		G	48887578	A	G	48887578	3	3	596	1	0	0	0	0	1	0	0	0	10820	188	7	3	80	3	OCIAD2	4	48887578	Missense_Mutation	SNP	A	TCGA-CZ-5465-01A-01D-1806-10		48887578	142266698	33	32597											
LPHN3	23284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	62813877	62813877	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr4:62813877G>A	ENST00000514591.1	+	16	2813	c.2484G>A	c.(2482-2484)atG>atA	p.M828I	LPHN3_ENST00000506720.1_Missense_Mutation_p.M896I|LPHN3_ENST00000511324.1_Missense_Mutation_p.M896I|LPHN3_ENST00000507164.1_Missense_Mutation_p.M896I|LPHN3_ENST00000508693.1_Missense_Mutation_p.M896I|LPHN3_ENST00000545650.1_Missense_Mutation_p.M828I|LPHN3_ENST00000508946.1_Missense_Mutation_p.M828I|LPHN3_ENST00000509896.1_Missense_Mutation_p.M896I|LPHN3_ENST00000506746.1_Missense_Mutation_p.M896I|LPHN3_ENST00000514157.1_Missense_Mutation_p.M828I|LPHN3_ENST00000512091.2_Missense_Mutation_p.M828I|LPHN3_ENST00000507625.1_Missense_Mutation_p.M896I|LPHN3_ENST00000506700.1_Missense_Mutation_p.M828I|LPHN3_ENST00000514996.1_Missense_Mutation_p.M828I|LPHN3_ENST00000504896.1_Missense_Mutation_p.M828I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	815	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.M828I(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGCGTACAATGACAGGTTATT	0.393																																																3	Substitution - Missense(3)	kidney(3)											90	80	83					4																	62813877		1884	4112	5996	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2484G>A	4.37:g.62813877G>A	ENSP00000422533:p.Met828Ile		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.070123|5.070123	0.93950|0.93950	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.98|5.98	5.98|5.98	0.97165|0.97165	.|GPS domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80248|0.80248	0.4588|0.4588	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.54964	.|0.969;0.969;0.962	.|D;D;D	.|0.70227	.|0.968;0.968;0.946	T|T	0.76083|0.76083	-0.3089|-0.3089	5|10	.|0.38643	.|T	.|0.18	.|.	20.5212|20.5212	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|828;815;828	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	N|I	286|828;828;896;896;828;828;815;828;896;896;896;828;828;828;896;896;828	.|ENSP00000423388:M828I;ENSP00000422533:M828I;ENSP00000423787:M896I;ENSP00000425033:M896I;ENSP00000424120:M828I;ENSP00000439831:M828I;ENSP00000421476:M896I;ENSP00000424030:M896I;ENSP00000421372:M896I;ENSP00000425201:M828I;ENSP00000423434:M828I;ENSP00000421627:M828I;ENSP00000420931:M896I;ENSP00000425884:M896I;ENSP00000424258:M828I	.|ENSP00000280009:M828I	D|M	+|+	1|3	0|0	LPHN3|LPHN3	62496472|62496472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.865000|9.865000	0.99609|0.99609	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	GAC|ATG		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			A	62813877	G	A	62813877	3	1	596	1	0	0	0	0	1	0	0	0	8919	1290	45	2	2538	2	LPHN3	4	62813877	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	13926299	62813877	128340399	34	32598											
PCDH10	57575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	134073481	134073481	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr4:134073481T>G	ENST00000264360.5	+	1	3012	c.2186T>G	c.(2185-2187)tTc>tGc	p.F729C		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	729					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F729C(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCCTTCATCTTCCTGCTGGCC	0.592																																																1	Substitution - Missense(1)	kidney(1)											90	102	98					4																	134073481		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2186T>G	4.37:g.134073481T>G	ENSP00000264360:p.Phe729Cys		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009735	0.54361	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.57907	0.37	4.48	4.48	0.54585	.	0.000000	0.47455	D	0.000234	T	0.71929	0.3398	M	0.79011	2.435	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	T	0.76639	-0.2885	10	0.87932	D	0	.	13.6128	0.62091	0.0:0.0:0.0:1.0	.	729;729	Q9P2E7;Q96SF0	PCD10_HUMAN;.	C	729	ENSP00000264360:F729C	ENSP00000264360:F729C	F	+	2	0	PCDH10	134292931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.094000	0.71431	1.883000	0.54544	0.459000	0.35465	TTC		0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		G	134073481	T	G	134073481	3	3	596	1	0	0	0	0	1	0	0	0	11509	1783	62	5	2188	5	PCDH10	4	134073481	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	71259604	134073481	57080795	35	32599											
SC4MOL	6307	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	166254730	166254730	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr4:166254730delT	ENST00000261507.6	+	2	381	c.208delT	c.(208-210)tttfs	p.F70fs	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Frame_Shift_Del_p.F70fs	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	70					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										TTTACCTGGATTTTTATTTCA	0.274																																																0													68	72	71					4																	166254730		2203	4298	6501	SO:0001589	frameshift_variant	0			U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"Fatty acid hydroxylase domain containing"	10545	protein-coding gene	gene with protein product		607545	"sterol-C4-methyl oxidase-like"	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.208delT	4.37:g.166254730delT	ENSP00000261507:p.Phe70fs		A8K8Q3|A8MYF6|D3DP32|Q32Q24	Frame_Shift_Del	DEL	ENST00000261507.6	37	CCDS3809.1																																																																																				0.274	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1	NM_006745		-	166254730	T	-	166254730	7	5	596	1	0	1	0	1	0	0	0	0	13871	1493	52	0	210	0	SC4MOL	4	166254730	Frame_Shift_Del	DEL	T	TCGA-CZ-5465-01A-01D-1806-10	32181249	166254730	24899546	36	32600											
PDZD2	23037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32090803	32090803	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr5:32090803T>G	ENST00000438447.1	+	20	7637	c.7249T>G	c.(7249-7251)Tct>Gct	p.S2417A	PDZD2_ENST00000282493.3_Missense_Mutation_p.S2417A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2417					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.S2417A(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GATGGCCAAGTCTCCCTCAAT	0.557																																																1	Substitution - Missense(1)	kidney(1)											58	61	60					5																	32090803		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7249T>G	5.37:g.32090803T>G	ENSP00000402033:p.Ser2417Ala		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.850198	0.51270	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09073	3.02;3.02	5.15	5.15	0.70609	.	0.000000	0.49916	D	0.000124	T	0.19725	0.0474	M	0.67953	2.075	0.26942	N	0.966237	D	0.62365	0.991	P	0.62382	0.901	T	0.09684	-1.0663	10	0.25751	T	0.34	.	8.4301	0.32753	0.1741:0.0:0.0:0.8259	.	2417	O15018	PDZD2_HUMAN	A	2417;2218;2417	ENSP00000402033:S2417A;ENSP00000282493:S2417A	ENSP00000282493:S2417A	S	+	1	0	PDZD2	32126560	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	2.369000	0.44231	1.930000	0.55929	0.459000	0.35465	TCT		0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			G	32090803	T	G	32090803	3	3	596	1	0	0	0	0	1	0	0	0	11703	1667	58	5	7323	5	PDZD2	5	32090803	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10		32090803	148824457	37	32601											
TBC1D22B	55633	hgsc.bcm.edu	37	6	37250060	37250060	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr6:37250060G>A	ENST00000373491.3	+	4	667	c.521G>A	c.(520-522)gGg>gAg	p.G174E		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	174							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AACGCTTCTGGGGCCCCCCCA	0.572																																																0													53	56	55					6																	37250060		2203	4300	6503	SO:0001583	missense	55633			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.521G>A	6.37:g.37250060G>A	ENSP00000362590:p.Gly174Glu		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	ENST00000373491.3	37	CCDS4832.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257443	0.80246	.	.	ENSG00000065491	ENST00000373491	T	0.14144	2.53	5.81	5.81	0.92471	.	0.102764	0.64402	D	0.000003	T	0.06462	0.0166	M	0.66939	2.045	0.80722	D	1	P	0.36789	0.57	B	0.28916	0.096	T	0.05835	-1.0861	10	0.02654	T	1	.	18.854	0.92244	0.0:0.0:1.0:0.0	.	174	Q9NU19	TB22B_HUMAN	E	174	ENSP00000362590:G174E	ENSP00000362590:G174E	G	+	2	0	TBC1D22B	37358038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.430000	0.97488	2.746000	0.94184	0.655000	0.94253	GGG		0.572	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		A	37250060	G	A	37250060	3	1	596	1	0	0	0	0	1	0	0	0	15617	1232	43	2	535	2	TBC1D22B	6	37250060	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10		37250060	133865007	38	32602											
ENPP3	5169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	131971248	131971248	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr6:131971248G>C	ENST00000414305.1	+	4	564	c.236G>C	c.(235-237)gGt>gCt	p.G79A	ENPP3_ENST00000358229.5_Missense_Mutation_p.G79A|ENPP3_ENST00000427148.2_Missense_Mutation_p.G45A|ENPP3_ENST00000543135.1_Missense_Mutation_p.G45A|ENPP3_ENST00000357639.3_Missense_Mutation_p.G79A|ENPP3_ENST00000470930.1_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	79	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G79A(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAAGACCGAGGTGATTGCTGC	0.413																																																1	Substitution - Missense(1)	kidney(1)											221	215	217					6																	131971248		2203	4300	6503	SO:0001583	missense	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.236G>C	6.37:g.131971248G>C	ENSP00000406261:p.Gly79Ala		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881299	0.33255	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.7	3.65	0.41850	Somatomedin B domain (4);	0.652062	0.14829	N	0.296019	T	0.46580	0.1400	M	0.85373	2.75	0.09310	N	0.999991	D	0.53619	0.961	P	0.56216	0.794	T	0.50541	-0.8816	10	0.62326	D	0.03	-2.9857	3.1244	0.06402	0.1692:0.0:0.5672:0.2636	.	79	O14638	ENPP3_HUMAN	A	79;79;45;45;79	ENSP00000406261:G79A;ENSP00000350265:G79A;ENSP00000440810:G45A;ENSP00000399269:G45A;ENSP00000350964:G79A	ENSP00000350265:G79A	G	+	2	0	ENPP3	132012941	0.269000	0.24143	0.766000	0.31476	0.362000	0.29581	2.315000	0.43752	1.378000	0.46305	0.557000	0.71058	GGT		0.413	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			C	131971248	G	C	131971248	3	2	596	1	0	0	0	0	1	0	0	0	5133	1261	44	4	246	4	ENPP3	6	131971248	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	94721188	131971248	39143819	39	32603											
RMND1	55005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	151726969	151726969	+	Silent	SNP	G	G	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr6:151726969G>T	ENST00000367303.4	-	11	1325	c.1203C>A	c.(1201-1203)gtC>gtA	p.V401V	RMND1_ENST00000336451.3_Silent_p.V190V	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	401					translation (GO:0006412)	mitochondrion (GO:0005739)		p.V401V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TTTCATTCATGACCTATGTAA	0.368																																																1	Substitution - coding silent(1)	kidney(1)											89	79	82					6																	151726969		2203	4300	6503	SO:0001819	synonymous_variant	55005			AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.1203C>A	6.37:g.151726969G>T			A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Silent	SNP	ENST00000367303.4	37	CCDS5232.1																																																																																				0.368	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		T	151726969	G	T	151726969	2	4	596	1	0	0	0	0	0	0	0	1	13402	1277	45	4		4	RMND1	6	151726969	Silent	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	19755721	151726969	19388098	40	32604											
TBP	6908	hgsc.bcm.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																																1	Substitution - coding silent(1)	endometrium(1)											17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871043	G	A	170871043	2	1	596	1	0	0	0	0	0	0	0	1	15649	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	19144074	170871043	244024	41	32605											
TBP	6908	hgsc.bcm.edu	37	6	170871097	170871097	+	Silent	SNP	G	G	A	rs200496051	byFrequency	TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr6:170871097G>A	ENST00000392092.2	+	3	552	c.273G>A	c.(271-273)caG>caA	p.Q91Q	TBP_ENST00000230354.6_Silent_p.Q91Q|TBP_ENST00000540980.1_Silent_p.Q71Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	91	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcaac	0.617													G|||	38	0.00758786	0.0015	0.0014	5008	,	,		13915	0.0159		0.002	False		,,,				2504	0.0174															0													24	30	28					6																	170871097		1944	3761	5705	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.273G>A	6.37:g.170871097G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																				0.617	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871097	G	A	170871097	2	1	596	1	0	0	0	0	0	0	0	1	15649	962	34	2		2	TBP	6	170871097	Silent	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	54	170871097	243970	42	32606											
SCRN1	9805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	29980329	29980330	+	Frame_Shift_Ins	INS	-	-	C	rs371750124		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr7:29980329_29980330insC	ENST00000426154.1	-	5	883_884	c.707_708insG	c.(706-708)ggtfs	p.G236fs	SCRN1_ENST00000434476.2_Frame_Shift_Ins_p.G256fs|SCRN1_ENST00000425819.2_Frame_Shift_Ins_p.G168fs|SCRN1_ENST00000409497.1_Frame_Shift_Ins_p.G236fs|SCRN1_ENST00000242059.5_Frame_Shift_Ins_p.G236fs|SCRN1_ENST00000416113.2_Intron	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	236					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CTTTGCCAGCACCGCAGTCTAG	0.48																																																0																																										SO:0001589	frameshift_variant	9805			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.708dupG	7.37:g.29980331_29980331dupC	ENSP00000409068:p.Gly236fs		A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Frame_Shift_Ins	INS	ENST00000426154.1	37	CCDS5422.1																																																																																				0.48	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		C	29980330	-	C	29980329	7	5	596	1	0	1	1	0	0	0	0	0	13944	146	6	0	552	0	SCRN1	7	29980329	Frame_Shift_Ins	INS	-	TCGA-CZ-5465-01A-01D-1806-10		29980329	129158334	43	32607											
POU6F2	11281	broad.mit.edu	37	7	39500265	39500265	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr7:39500265G>T	ENST00000403058.1	+	10	1676	c.1522G>T	c.(1522-1524)Gct>Tct	p.A508S	POU6F2_ENST00000559001.1_Missense_Mutation_p.A453S|POU6F2_ENST00000518318.2_Missense_Mutation_p.A508S	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	508	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A508S(3)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGTGGGACAGGCTCTCAGTGC	0.592																																																3	Substitution - Missense(3)	endometrium(2)|kidney(1)											33	29	30					7																	39500265		2203	4300	6503	SO:0001583	missense	11281			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1522G>T	7.37:g.39500265G>T	ENSP00000384004:p.Ala508Ser		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698778	0.68501	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.95342	-2.0;-3.68	5.48	5.48	0.80851	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.96842	0.8969	M	0.65320	2	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.97228	0.9882	10	0.87932	D	0	.	19.3555	0.94410	0.0:0.0:1.0:0.0	.	508	P78424	PO6F2_HUMAN	S	508	ENSP00000384004:A508S;ENSP00000430514:A508S	ENSP00000384004:A508S	A	+	1	0	POU6F2	39466790	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.773000	0.98989	2.572000	0.86782	0.511000	0.50034	GCT		0.592	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		T	39500265	G	T	39500265	3	4	596	1	0	0	0	0	1	0	0	0	12287	1203	42	4	1556	4	POU6F2	7	39500265	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	9519936	39500265	119638398	44	32608											
AEBP1	165	hgsc.bcm.edu;ucsc.edu	37	7	44153688	44153688	+	Missense_Mutation	SNP	G	G	A	rs567662804	byFrequency	TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr7:44153688G>A	ENST00000223357.3	+	21	3610	c.3305G>A	c.(3304-3306)gGg>gAg	p.G1102E	AEBP1_ENST00000450684.2_Missense_Mutation_p.G677E	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1102	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCGAGTTTGGGACCAAGGTG	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		14060	0.001		0.001	False		,,,				2504	0.001															0													132	125	128					7																	44153688		2203	4300	6503	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3305G>A	7.37:g.44153688G>A	ENSP00000223357:p.Gly1102Glu		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	0.721	-0.783629	0.02907	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.98192	-4.78;-3.39	4.84	-1.8	0.07907	.	3.955080	0.00633	N	0.000488	D	0.93609	0.7959	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	D	0.89512	0.3772	10	0.02654	T	1	.	2.3648	0.04316	0.2024:0.3185:0.3433:0.1358	.	677;1102	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	E	1102;677	ENSP00000223357:G1102E;ENSP00000398878:G677E	ENSP00000223357:G1102E	G	+	2	0	AEBP1	44120213	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-1.228000	0.02948	-0.145000	0.11294	-0.244000	0.11960	GGG		0.597	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		A	44153688	G	A	44153688	3	1	596	1	0	0	0	0	1	0	0	0	349	1232	43	2	3387	2	AEBP1	7	44153688	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	4653423	44153688	114984975	45	32609	243	4									
AEBP1	165	hgsc.bcm.edu	37	7	44153693	44153693	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr7:44153693A>G	ENST00000223357.3	+	21	3615	c.3310A>G	c.(3310-3312)Aag>Gag	p.K1104E	AEBP1_ENST00000450684.2_Missense_Mutation_p.K679E	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1104	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GTTTGGGACCAAGGTGGAGCC	0.587																																																0													134	127	129					7																	44153693		2203	4300	6503	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3310A>G	7.37:g.44153693A>G	ENSP00000223357:p.Lys1104Glu		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	A	0.468	-0.885879	0.02511	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.94576	-3.46;-2.91	4.15	-1.59	0.08453	.	4.702480	0.00644	N	0.000525	D	0.83069	0.5174	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.80645	-0.1290	10	0.02654	T	1	.	6.134	0.20221	0.2195:0.3911:0.3894:0.0	.	679;1104	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	E	1104;679	ENSP00000223357:K1104E;ENSP00000398878:K679E	ENSP00000223357:K1104E	K	+	1	0	AEBP1	44120218	0.002000	0.14202	0.000000	0.03702	0.013000	0.08279	-0.322000	0.08007	-0.626000	0.05596	-1.366000	0.01203	AAG		0.587	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		G	44153693	A	G	44153693	3	3	596	1	0	0	0	0	1	0	0	0	349	131	5	3	3392	3	AEBP1	7	44153693	Missense_Mutation	SNP	A	TCGA-CZ-5465-01A-01D-1806-10	5	44153693	114984970	46	32610	243	4									
AEBP1	165	hgsc.bcm.edu;ucsc.edu	37	7	44153696	44153696	+	Missense_Mutation	SNP	G	G	T	rs538374901	byFrequency	TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr7:44153696G>T	ENST00000223357.3	+	21	3618	c.3313G>T	c.(3313-3315)Gtg>Ttg	p.V1105L	AEBP1_ENST00000450684.2_Missense_Mutation_p.V680L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1105	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGGGACCAAGGTGGAGCCCGA	0.592													G|||	3	0.000599042	0.0	0.0	5008	,	,		14512	0.001		0.001	False		,,,				2504	0.001															0													137	128	131					7																	44153696		2203	4300	6503	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3313G>T	7.37:g.44153696G>T	ENSP00000223357:p.Val1105Leu		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	3.756	-0.050585	0.07407	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.94613	-3.47;-2.95	4.15	-8.3	0.01005	.	21.479700	0.00166	N	0.000000	D	0.84924	0.5580	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.74281	-0.3716	10	0.38643	T	0.18	.	2.8348	0.05510	0.1361:0.3645:0.2487:0.2507	.	680;1105	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	L	1105;680	ENSP00000223357:V1105L;ENSP00000398878:V680L	ENSP00000223357:V1105L	V	+	1	0	AEBP1	44120221	0.001000	0.12720	0.006000	0.13384	0.061000	0.15899	-2.257000	0.01180	-1.153000	0.02829	-0.261000	0.10672	GTG		0.592	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		T	44153696	G	T	44153696	3	4	596	1	0	0	0	0	1	0	0	0	349	1261	44	4	3395	4	AEBP1	7	44153696	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	3	44153696	114984967	47	32611	243	4									
AEBP1	165	hgsc.bcm.edu	37	7	44153704	44153704	+	Silent	SNP	C	C	T	rs556336163	byFrequency	TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr7:44153704C>T	ENST00000223357.3	+	21	3626	c.3321C>T	c.(3319-3321)ccC>ccT	p.P1107P	AEBP1_ENST00000450684.2_Silent_p.P682P	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1107	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGGTGGAGCCCGAGTTTGAGA	0.597													C|||	3	0.000599042	0.0	0.0	5008	,	,		14756	0.001		0.0	False		,,,				2504	0.002															0													135	126	129					7																	44153704		2203	4300	6503	SO:0001819	synonymous_variant	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3321C>T	7.37:g.44153704C>T			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	37	CCDS5476.1																																																																																				0.597	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		T	44153704	C	T	44153704	2	4	596	1	0	0	0	0	0	0	0	1	349	639	23	1		1	AEBP1	7	44153704	Silent	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	8	44153704	114984959	48	32612	243	4									
MET	4233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116411638	116411638	+	Silent	SNP	C	C	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr7:116411638C>G	ENST00000318493.6	+	13	3058	c.2871C>G	c.(2869-2871)gtC>gtG	p.V957V	MET_ENST00000397752.3_Silent_p.V939V			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V957V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTGGTGTTGTCTCAATATCAA	0.348			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - coding silent(1)	kidney(1)											141	131	134					7																	116411638		1841	4097	5938	SO:0001819	synonymous_variant	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2871C>G	7.37:g.116411638C>G			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	CCDS47689.1																																																																																				0.348	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			G	116411638	C	G	116411638	2	3	596	1	0	0	0	0	0	0	0	1	9487	900	32	4		4	MET	7	116411638	Silent	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	72257934	116411638	42727025	49	32613											
IQUB	154865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123119948	123119948	+	Silent	SNP	A	A	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr7:123119948A>C	ENST00000466202.1	-	8	1887	c.1311T>G	c.(1309-1311)ctT>ctG	p.L437L	IQUB_ENST00000434450.1_Silent_p.L437L|IQUB_ENST00000324698.6_Silent_p.L437L	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	437					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.L437L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTTTTTCCAGAAGTTCACACA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											113	104	107					7																	123119948		2203	4299	6502	SO:0001819	synonymous_variant	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1311T>G	7.37:g.123119948A>C			A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	CCDS5787.1																																																																																				0.398	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		C	123119948	A	C	123119948	2	2	596	1	0	0	0	0	0	0	0	1	7822	233	9	5		5	IQUB	7	123119948	Silent	SNP	A	TCGA-CZ-5465-01A-01D-1806-10	6708310	123119948	36018715	50	32614											
ZC3HAV1	56829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138764225	138764225	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr7:138764225G>A	ENST00000242351.5	-	4	1778	c.1462C>T	c.(1462-1464)Ctt>Ttt	p.L488F	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L488F|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L488F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	488					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.L488F(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCGTTAACAAGTGCTACTCTT	0.443																																																1	Substitution - Missense(1)	kidney(1)											99	99	99					7																	138764225		2203	4300	6503	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1462C>T	7.37:g.138764225G>A	ENSP00000242351:p.Leu488Phe		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	1.224	-0.626144	0.03610	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.20332	3.12;3.33;2.08	4.64	0.412	0.16397	.	1.448070	0.04136	N	0.318770	T	0.09818	0.0241	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24941	-1.0146	10	0.08837	T	0.75	.	2.6417	0.04973	0.5455:0.0:0.2594:0.1951	.	488;488	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	F	488;488;488;248	ENSP00000242351:L488F;ENSP00000418385:L488F;ENSP00000419855:L488F	ENSP00000242351:L488F	L	-	1	0	ZC3HAV1	138414765	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	0.825000	0.27393	0.292000	0.22492	-0.345000	0.07892	CTT		0.443	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		A	138764225	G	A	138764225	3	1	596	1	0	0	0	0	1	0	0	0	17580	1029	36	2	1290	2	ZC3HAV1	7	138764225	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	15644277	138764225	20374438	51	32615											
PDLIM2	64236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	22452072	22452072	+	IGR	SNP	A	A	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr8:22452072A>T	ENST00000397760.4	+	0	1837				AC037459.4_ENST00000430850.2_Intron|PDLIM2_ENST00000265810.4_Missense_Mutation_p.R337S			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R337S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGGGAATGAGATTGTCACTGG	0.532																																																1	Substitution - Missense(1)	kidney(1)											173	174	173					8																	22452072		2203	4300	6503	SO:0001628	intergenic_variant	64236			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270		8.37:g.22452072A>T			D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	37		.	.	.	.	.	.	.	.	.	.	A	12.11	1.840380	0.32513	.	.	ENSG00000120913	ENST00000265810	T	0.13657	2.57	1.99	-2.96	0.05547	.	.	.	.	.	T	0.08088	0.0202	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34875	-0.9811	8	0.62326	D	0.03	.	2.9994	0.06009	0.3871:0.0:0.2975:0.3155	.	337	Q96JY6-3	.	S	337	ENSP00000265810:R337S	ENSP00000265810:R337S	R	+	3	2	PDLIM2	22508017	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.207000	0.09384	-0.736000	0.04831	-1.585000	0.00851	AGA		0.532	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			T	22452072	A	T	22452072	1	4	596	0	1	0	0	0	0	0	0	0	11682	330	12	5		5	PDLIM2	8	22452072	IGR	SNP	A	TCGA-CZ-5465-01A-01D-1806-10		22452072	123911950	52	32616											
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110460595	110460595	+	Silent	SNP	T	T	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr8:110460595T>C	ENST00000378402.5	+	39	6104	c.6000T>C	c.(5998-6000)aaT>aaC	p.N2000N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2000	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.N2002N(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCCGCTTAATATTCAAAATA	0.373										HNSCC(38;0.096)																																						1	Substitution - coding silent(1)	kidney(1)											58	57	57					8																	110460595		1852	4109	5961	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6000T>C	8.37:g.110460595T>C			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		C	110460595	T	C	110460595	2	2	596	1	0	0	0	0	0	0	0	1	11974	1403	49	3		3	PKHD1L1	8	110460595	Silent	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	88008523	110460595	35903427	53	32617											
FER1L6	654463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125052244	125052244	+	Silent	SNP	A	A	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr8:125052244A>T	ENST00000522917.1	+	20	2792	c.2586A>T	c.(2584-2586)acA>acT	p.T862T	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.T862T|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	862	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.T862T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCAGACAACAAAGGTAACCA	0.527																																																1	Substitution - coding silent(1)	kidney(1)											81	81	81					8																	125052244		2006	4175	6181	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2586A>T	8.37:g.125052244A>T				Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.527	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		T	125052244	A	T	125052244	2	4	596	1	0	0	0	0	0	0	0	1	5817	117	5	5		5	FER1L6	8	125052244	Silent	SNP	A	TCGA-CZ-5465-01A-01D-1806-10	14591649	125052244	21311778	54	32618											
FLJ43860	389690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	142444934	142444934	+	RNA	SNP	T	T	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr8:142444934T>C	ENST00000606664.1	+	0	290				MROH5_ENST00000430863.1_RNA																							CTATGAAGAGTGTCACCCAGG	0.627																																																0													74	82	79					8																	142444934		2079	4191	6270			0																															8.37:g.142444934T>C				Silent	SNP	ENST00000606664.1	37																																																																																					0.627	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			C	142444934	T	C	142444934	1	2	596	0	1	0	0	0	0	0	0	0	5932	1683	59	3		3	FLJ43860	8	142444934	RNA	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	17392690	142444934	3919088	55	32619											
RANBP6	26953	broad.mit.edu;hgsc.bcm.edu	37	9	6013478	6013478	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr9:6013478T>G	ENST00000259569.5	-	1	2140	c.2130A>C	c.(2128-2130)caA>caC	p.Q710H	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	710					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q710H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GCTTCACAACTTGTTCTGTAT	0.403																																																1	Substitution - Missense(1)	kidney(1)											119	122	121					9																	6013478		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2130A>C	9.37:g.6013478T>G	ENSP00000259569:p.Gln710His		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.537389	0.45176	.	.	ENSG00000137040	ENST00000259569	T	0.24723	1.84	3.79	2.64	0.31445	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.38374	0.1038	L	0.60067	1.865	0.53688	D	0.999979	D;D	0.64830	0.994;0.994	P;P	0.61201	0.827;0.885	T	0.12889	-1.0530	10	0.62326	D	0.03	-7.507	7.7413	0.28843	0.0:0.1035:0.0:0.8965	.	298;710	B4DTX6;O60518	.;RNBP6_HUMAN	H	710	ENSP00000259569:Q710H	ENSP00000259569:Q710H	Q	-	3	2	RANBP6	6003478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.461000	0.35255	0.803000	0.34113	0.528000	0.53228	CAA		0.403	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		G	6013478	T	G	6013478	3	3	596	1	0	0	0	0	1	0	0	0	13037	1606	56	5	1191	5	RANBP6	9	6013478	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10		6013478	135199953	56	32620											
ALDOB	229	hgsc.bcm.edu;ucsc.edu	37	9	104192206	104192207	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr9:104192206_104192207insTT	ENST00000374855.4	-	3	278_279	c.154_155insAA	c.(154-156)actfs	p.T52fs	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	52					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GTTCTCTTCAGTGTTTTCCACC	0.559																																																0																																										SO:0001589	frameshift_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.154_155insAA	9.37:g.104192206_104192207insTT	ENSP00000363988:p.Thr52fs		Q13741|Q13742|Q5T7D6	Frame_Shift_Ins	INS	ENST00000374855.4	37	CCDS6756.1																																																																																				0.559	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			TT	104192207	-	TT	104192206	7	5	596	1	0	1	1	0	0	0	0	0	508	1029	36	0	967	0	ALDOB	9	104192206	Frame_Shift_Ins	INS	-	TCGA-CZ-5465-01A-01D-1806-10	98178728	104192206	37021225	57	32621											
C5	727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123719562	123719562	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr9:123719562C>T	ENST00000223642.1	-	39	4792		c.e39+1			NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5						activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.?(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	tgaatTCTCACCAGTTTTGTA	0.358																																																1	Unknown(1)	kidney(1)											191	189	190					9																	123719562		2203	4300	6503	SO:0001630	splice_region_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4762+1G>A	9.37:g.123719562C>T			Q14CJ0|Q27I61	Splice_Site	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092920	0.76756	.	.	ENSG00000106804	ENST00000223642	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6803	0.77364	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5	122759383	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	4.611000	0.61162	2.777000	0.95525	0.655000	0.94253	.		0.358	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	Intron	T	123719562	C	T	123719562	5	4	596	1	0	0	0	0	0	0	1	0	2282	521	18	2	279	2	C5	9	123719562	Splice_Site	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	19527356	123719562	17493869	58	32622											
URM1	81605	broad.mit.edu;hgsc.bcm.edu	37	9	131151698	131151698	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr9:131151698C>G	ENST00000452446.1	+	4	409	c.347C>G	c.(346-348)cCc>cGc	p.P116R	URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372850.1_3'UTR|URM1_ENST00000372853.4_Intron|RP11-339B21.11_ENST00000609303.1_lincRNA	NM_001135947.2	NP_001129419.1			ubiquitin related modifier 1									p.P116R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						AATCCTCCGCCCCACTCCAGC	0.607																																																1	Substitution - Missense(1)	kidney(1)											28	34	32					9																	131151698		692	1591	2283	SO:0001583	missense	81605			AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"chromosome 9 open reading frame 74", "ubiquitin related modifier 1 homolog (S. cerevisiae)"	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742	ENST00000452446.1:c.347C>G	9.37:g.131151698C>G	ENSP00000412922:p.Pro116Arg			Missense_Mutation	SNP	ENST00000452446.1	37	CCDS48035.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947091	0.53186	.	.	ENSG00000167118	ENST00000452446	.	.	.	4.59	0.698	0.18087	.	.	.	.	.	T	0.17577	0.0422	.	.	.	0.09310	N	1	B	0.32160	0.358	B	0.24394	0.053	T	0.15925	-1.0420	6	.	.	.	.	3.5407	0.07809	0.1751:0.549:0.0:0.2759	.	116	Q9BTM9-2	.	R	116	.	.	P	+	2	0	URM1	130191519	0.000000	0.05858	0.002000	0.10522	0.383000	0.30230	0.158000	0.16422	0.135000	0.18707	-0.140000	0.14226	CCC		0.607	URM1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030914		G	131151698	C	G	131151698	3	3	596	1	0	0	0	0	1	0	0	0	17032	623	22	4	361	4	URM1	9	131151698	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	7432136	131151698	10061733	59	32623											
BAT2L1	84726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	134350077	134350077	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr9:134350077C>T	ENST00000357304.4	+	15	2616	c.2561C>T	c.(2560-2562)cCa>cTa	p.P854L	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	854							poly(A) RNA binding (GO:0044822)	p.P854L(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGTGTTCCCCATTGGAGCCT	0.527																																																2	Substitution - Missense(2)	kidney(2)											28	30	30					9																	134350077		1947	4133	6080	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2561C>T	9.37:g.134350077C>T	ENSP00000349856:p.Pro854Leu		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856960	0.71834	.	.	ENSG00000130723	ENST00000357304;ENST00000418650;ENST00000456307	T;T	0.13657	2.57;2.57	5.7	5.7	0.88788	.	.	.	.	.	T	0.16171	0.0389	L	0.27053	0.805	0.80722	D	1	P;P	0.42296	0.775;0.518	B;B	0.43916	0.436;0.115	T	0.00888	-1.1526	9	0.72032	D	0.01	.	18.8293	0.92132	0.0:1.0:0.0:0.0	.	150;854	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	L	854;150;123	ENSP00000349856:P854L;ENSP00000400608:P123L	ENSP00000349856:P854L	P	+	2	0	PRRC2B	133339898	0.928000	0.31464	0.597000	0.28824	0.977000	0.68977	2.747000	0.47475	2.683000	0.91414	0.655000	0.94253	CCA		0.527	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	134350077	C	T	134350077	3	4	596	1	0	0	0	0	1	0	0	0	1320	594	21	2	2619	2	BAT2L1	9	134350077	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	3198379	134350077	6863354	60	32624											
KIAA1984	84960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139697161	139697161	+	Missense_Mutation	SNP	G	G	A	rs373655990		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr9:139697161G>A	ENST00000338005.6	+	6	624	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		197								p.V197M(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GCAGAACCTCGTGGTCAACTA	0.567																																																1	Substitution - Missense(1)	kidney(1)						G	MET/VAL	1,4055		0,1,2027	119	128	125		589	4.8	0.1	9		125	0,8376		0,0,4188	no	missense	KIAA1984	NM_001039374.4	21	0,1,6215	AA,AG,GG		0.0,0.0247,0.0080	probably-damaging	197/535	139697161	1,12431	2028	4188	6216	SO:0001583	missense	84960																														ENST00000338005.6:c.589G>A	9.37:g.139697161G>A	ENSP00000338013:p.Val197Met		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621841	0.28889	2.47E-4	0.0	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.18338	2.22	4.83	4.83	0.62350	.	0.194822	0.24265	U	0.040041	T	0.38214	0.1032	M	0.61703	1.905	0.35048	D	0.760357	D	0.89917	1.0	D	0.77004	0.989	T	0.49735	-0.8908	10	0.56958	D	0.05	-31.9201	13.7823	0.63089	0.0:0.0:1.0:0.0	.	197	Q5T5S1	K1984_HUMAN	M	197	ENSP00000338013:V197M	ENSP00000338013:V197M	V	+	1	0	KIAA1984	138816982	0.844000	0.29557	0.052000	0.19188	0.039000	0.13416	2.985000	0.49362	2.384000	0.81235	0.561000	0.74099	GTG		0.567	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			A	139697161	G	A	139697161	3	1	596	1	0	0	0	0	1	0	0	0	8268	1145	40	1	611	1	KIAA1984	9	139697161	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	5347084	139697161	1516270	61	32625											
USP6NL	9712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	11543102	11543102	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr10:11543102T>C	ENST00000609104.1	-	7	776	c.382A>G	c.(382-384)Agt>Ggt	p.S128G	USP6NL_ENST00000379237.2_Missense_Mutation_p.S151G|USP6NL_ENST00000277575.5_Missense_Mutation_p.S145G	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	128	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.S145G(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTACTCACACTATACAGGTCC	0.358																																																1	Substitution - Missense(1)	kidney(1)											52	48	49					10																	11543102		1815	4068	5883	SO:0001583	missense	9712			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.382A>G	10.37:g.11543102T>C	ENSP00000476462:p.Ser128Gly		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.491055	0.44249	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.31769	1.48;1.48	5.44	5.44	0.79542	Rab-GAP/TBC domain (4);	0.309269	0.41938	D	0.000800	T	0.26882	0.0658	L	0.38838	1.175	0.37932	D	0.932043	B;B	0.26547	0.152;0.077	B;B	0.33121	0.158;0.098	T	0.18967	-1.0320	10	0.48119	T	0.1	.	9.3356	0.38049	0.0:0.0817:0.0:0.9183	.	128;145	Q92738;Q92738-2	US6NL_HUMAN;.	G	128;145;128	ENSP00000277575:S145G;ENSP00000368539:S128G	ENSP00000277575:S145G	S	-	1	0	USP6NL	11583108	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.797000	0.47877	2.188000	0.69820	0.459000	0.35465	AGT		0.358	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		C	11543102	T	C	11543102	3	2	596	1	0	0	0	0	1	0	0	0	17092	1522	53	3	2140	3	USP6NL	10	11543102	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10		11543102	123991645	62	32626											
BMS1	9790	broad.mit.edu;hgsc.bcm.edu	37	10	43318590	43318590	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr10:43318590G>C	ENST00000374518.5	+	20	3220	c.3157G>C	c.(3157-3159)Gtg>Ctg	p.V1053L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1053					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.V1053L(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGCCTTGGAAGTGGCCAAATT	0.423																																																1	Substitution - Missense(1)	kidney(1)											77	83	81					10																	43318590		2203	4300	6503	SO:0001583	missense	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3157G>C	10.37:g.43318590G>C	ENSP00000363642:p.Val1053Leu		Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705026	0.88924	.	.	ENSG00000165733	ENST00000374518	T	0.28895	1.59	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.53318	0.1789	M	0.92317	3.295	0.80722	D	1	P	0.41710	0.76	P	0.45538	0.484	T	0.68938	-0.5277	10	0.87932	D	0	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1053	Q14692	BMS1_HUMAN	L	1053	ENSP00000363642:V1053L	ENSP00000363642:V1053L	V	+	1	0	BMS1	42638596	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	GTG		0.423	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		C	43318590	G	C	43318590	3	2	596	1	0	0	0	0	1	0	0	0	1472	1029	36	4	3231	4	BMS1	10	43318590	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	31775488	43318590	92216157	63	32627											
TMEM26	219623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	63212753	63212753	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr10:63212753C>A	ENST00000399298.3	-	1	455	c.87G>T	c.(85-87)gaG>gaT	p.E29D	RP11-809M12.1_ENST00000389640.4_RNA|TMEM26_ENST00000399293.1_Missense_Mutation_p.E29D	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	29						integral component of membrane (GO:0016021)		p.E29D(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CCTTCTTCACCTCGGTCACTC	0.627																																																1	Substitution - Missense(1)	kidney(1)											67	80	76					10																	63212753		2056	4195	6251	SO:0001583	missense	219623			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.87G>T	10.37:g.63212753C>A	ENSP00000382237:p.Glu29Asp		Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775473	0.49786	.	.	ENSG00000196932	ENST00000399298;ENST00000399293	.	.	.	5.14	3.28	0.37604	.	0.713793	0.14370	N	0.323879	T	0.30293	0.0760	L	0.44542	1.39	0.20638	N	0.999876	B	0.26708	0.157	B	0.31191	0.125	T	0.26950	-1.0088	9	0.13108	T	0.6	-21.2517	4.6019	0.12357	0.0:0.4296:0.2827:0.2876	.	29	Q6ZUK4	TMM26_HUMAN	D	29	.	ENSP00000382232:E29D	E	-	3	2	TMEM26	62882759	0.726000	0.28059	0.926000	0.36857	0.927000	0.56198	0.093000	0.15086	0.743000	0.32719	0.655000	0.94253	GAG		0.627	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		A	63212753	C	A	63212753	3	1	596	1	0	0	0	0	1	0	0	0	16156	680	24	4	1043	4	TMEM26	10	63212753	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	19894163	63212753	72321994	64	32628											
CCNJ	54619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	97810064	97810064	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr10:97810064C>T	ENST00000265992.5	+	3	488	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	CCNJ_ENST00000403870.3_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000427846.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	41	Cyclin N-terminal.					nucleus (GO:0005634)		p.R41W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AAGTCTCAGACGGTATTTTGC	0.478																																																1	Substitution - Missense(1)	kidney(1)											167	135	146					10																	97810064		2203	4300	6503	SO:0001583	missense	54619			AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.121C>T	10.37:g.97810064C>T	ENSP00000265992:p.Arg41Trp		B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851763	0.71719	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.12465	2.68;2.68;2.68	5.26	2.05	0.26809	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.64687	0.917;0.882;0.928	T	0.36841	-0.9731	10	0.66056	D	0.02	-17.0914	13.7225	0.62737	0.6642:0.3358:0.0:0.0	.	41;41;41	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	W	41	ENSP00000265992:R41W;ENSP00000384498:R41W;ENSP00000441415:R41W	ENSP00000265992:R41W	R	+	1	2	CCNJ	97800054	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.345000	0.33953	0.170000	0.19704	0.644000	0.83932	CGG		0.478	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		T	97810064	C	T	97810064	3	4	596	1	0	0	0	0	1	0	0	0	2930	527	19	1	127	1	CCNJ	10	97810064	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	34597311	97810064	37724683	65	32629											
MUC2	4583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1092095	1092095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr11:1092095G>A	ENST00000441003.2	+	30	3941	c.3914G>A	c.(3913-3915)tGg>tAg	p.W1305*	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Nonsense_Mutation_p.W1306*|MUC2_ENST00000361558.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1305					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.W1305*(1)|p.W1306*(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCTGCCTCTGGTCTGACTGG	0.592																																																2	Substitution - Nonsense(2)	kidney(2)											36	38	37					11																	1092095		2074	4188	6262	SO:0001587	stop_gained	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3914G>A	11.37:g.1092095G>A	ENSP00000415183:p.Trp1305*		Q14878	Nonsense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	g	42	9.670564	0.99234	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	.	.	.	3.34	3.34	0.38264	.	0.391048	0.20000	U	0.101346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5049	0.67746	0.0:0.0:1.0:0.0	.	.	.	.	X	1305;1306	.	ENSP00000351956:W1306X	W	+	2	0	MUC2	1082095	1.000000	0.71417	0.069000	0.20011	0.157000	0.22087	7.567000	0.82357	1.736000	0.51660	0.466000	0.42574	TGG		0.592	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1092095	G	A	1092095	4	1	596	1	0	0	0	0	0	1	0	0	9977	1357	47	2	4032	2	MUC2	11	1092095	Nonsense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10		1092095	133914421	66	32630											
SLC5A12	159963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	26695022	26695022	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr11:26695022delA	ENST00000396005.3	-	14	1943	c.1634delT	c.(1633-1635)ttafs	p.L545fs		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	545					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAAGCAAAATAAATTACAAAC	0.398																																																0													118	118	118					11																	26695022		1986	4184	6170	SO:0001589	frameshift_variant	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1634delT	11.37:g.26695022delA	ENSP00000379326:p.Leu545fs		Q86UC7	Frame_Shift_Del	DEL	ENST00000396005.3	37	CCDS7860.2																																																																																				0.398	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		-	26695022	A	-	26695022	7	5	596	1	0	1	0	1	0	0	0	0	14670	372	13	0	230	0	SLC5A12	11	26695022	Frame_Shift_Del	DEL	A	TCGA-CZ-5465-01A-01D-1806-10	25602927	26695022	108311494	67	32631											
SLC15A3	51296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60711236	60711236	+	Silent	SNP	G	G	A	rs373300409		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr11:60711236G>A	ENST00000227880.3	-	3	1154	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	307					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.I307I(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGAAGTTGGCGATGTCCTCTT	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20023	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											109	92	98					11																	60711236		2203	4299	6502	SO:0001819	synonymous_variant	51296			AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.921C>T	11.37:g.60711236G>A			Q9P2X9	Silent	SNP	ENST00000227880.3	37	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526466	0.27299	.	.	ENSG00000110446	ENST00000442626;ENST00000537307	.	.	.	4.77	-9.54	0.00572	.	.	.	.	.	T	0.16896	0.0406	.	.	.	0.22989	N	0.998468	.	.	.	.	.	.	T	0.12915	-1.0529	5	0.23302	T	0.38	-0.0469	4.3701	0.11244	0.4022:0.3785:0.1338:0.0854	.	.	.	.	L	307;10	.	ENSP00000403318:S307L	S	-	2	0	SLC15A3	60467812	0.000000	0.05858	0.024000	0.17045	0.538000	0.34931	-1.533000	0.02215	-2.396000	0.00582	-0.156000	0.13503	TCG		0.592	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		A	60711236	G	A	60711236	2	1	596	1	0	0	0	0	0	0	0	1	14406	1048	37	1		1	SLC15A3	11	60711236	Silent	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	34016214	60711236	74295280	68	32632											
NRXN2	9379	broad.mit.edu;ucsc.edu	37	11	64453329	64453329	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr11:64453329A>G	ENST00000377551.1	-	5	1152	c.941T>C	c.(940-942)aTc>aCc	p.I314T	NRXN2_ENST00000377559.3_Missense_Mutation_p.I290T|NRXN2_ENST00000265459.6_Missense_Mutation_p.I314T|NRXN2_ENST00000409571.1_Missense_Mutation_p.I314T			Q9P2S2	NRX2A_HUMAN	neurexin 2	314	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.I314T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGCCAGTGTGATCTCATCAGT	0.577																																																1	Substitution - Missense(1)	kidney(1)											383	304	331					11																	64453329		2201	4297	6498	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.941T>C	11.37:g.64453329A>G	ENSP00000366774:p.Ile314Thr		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.200888|4.200888	0.79015|0.79015	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300|ENST00000417749	D;D;D;D;D|.	0.81908|.	-1.55;-1.53;-1.55;-1.55;-1.55|.	4.17|4.17	4.17|4.17	0.49024|0.49024	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);|.	0.000000|.	0.42964|.	U|.	0.000627|.	T|T	0.78059|0.78059	0.4224|0.4224	M|M	0.88377|0.88377	2.95|2.95	0.53688|0.53688	D|D	0.999977|0.999977	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.74348|.	0.983;0.961|.	T|T	0.81364|0.81364	-0.0966|-0.0966	10|5	0.87932|.	D|.	0|.	.|.	11.4909|11.4909	0.50381|0.50381	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	290;314|.	Q9P2S2-2;Q9P2S2|.	.;NRX2A_HUMAN|.	T|P	314;290;314;290;314;85|75	ENSP00000366774:I314T;ENSP00000366782:I290T;ENSP00000265459:I314T;ENSP00000386416:I314T;ENSP00000388971:I85T|.	ENSP00000265459:I314T|.	I|S	-|-	2|1	0|0	NRXN2|NRXN2	64209905|64209905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.335000|9.335000	0.96500|0.96500	1.677000|1.677000	0.50941|0.50941	0.383000|0.383000	0.25322|0.25322	ATC|TCA		0.577	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		G	64453329	A	G	64453329	3	3	596	1	0	0	0	0	1	0	0	0	10668	333	12	3	4538	3	NRXN2	11	64453329	Missense_Mutation	SNP	A	TCGA-CZ-5465-01A-01D-1806-10	3742093	64453329	70553187	69	32633											
EFEMP2	30008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65635794	65635794	+	Missense_Mutation	SNP	C	C	T	rs113167523	byFrequency	TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr11:65635794C>T	ENST00000307998.6	-	9	1176	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.V316M	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	316	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.V316M(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TAGGGCTCCACGCAGCGGTTG	0.587																																																1	Substitution - Missense(1)	kidney(1)											45	41	42					11																	65635794		2201	4296	6497	SO:0001583	missense	30008			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.946G>A	11.37:g.65635794C>T	ENSP00000309953:p.Val316Met		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823357	0.32237	.	.	ENSG00000172638	ENST00000531645;ENST00000528176;ENST00000307998	D;D;D	0.91792	-2.91;-2.91;-2.91	4.98	1.78	0.24846	Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.534318	0.15382	N	0.265264	D	0.83358	0.5237	N	0.12853	0.265	0.26681	N	0.971538	D;P	0.59767	0.986;0.881	P;B	0.45794	0.493;0.163	T	0.76440	-0.2958	10	0.52906	T	0.07	.	6.5407	0.22378	0.3363:0.3832:0.2805:0.0	.	316;316	E9PRU1;O95967	.;FBLN4_HUMAN	M	32;316;316	ENSP00000436521:V32M;ENSP00000434151:V316M;ENSP00000309953:V316M	ENSP00000309953:V316M	V	-	1	0	EFEMP2	65392370	0.995000	0.38212	0.996000	0.52242	0.023000	0.10783	1.698000	0.37794	1.071000	0.40834	0.455000	0.32223	GTG		0.587	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		T	65635794	C	T	65635794	3	4	596	1	0	0	0	0	1	0	0	0	4944	536	19	1	397	1	EFEMP2	11	65635794	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	1182465	65635794	69370722	70	32634											
PITPNM1	9600	broad.mit.edu;ucsc.edu	37	11	67265791	67265791	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr11:67265791A>C	ENST00000534749.1	-	10	1675	c.1487T>G	c.(1486-1488)cTg>cGg	p.L496R	PITPNM1_ENST00000436757.2_Missense_Mutation_p.L496R|PITPNM1_ENST00000356404.3_Missense_Mutation_p.L496R			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	496					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)	p.L496R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GTAAGGGCTCAGGCTGTAGGA	0.652																																					GBM(28;144 709 4607 5525)											1	Substitution - Missense(1)	kidney(1)											54	53	53					11																	67265791		2195	4292	6487	SO:0001583	missense	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1487T>G	11.37:g.67265791A>C	ENSP00000437286:p.Leu496Arg		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	a	18.24	3.579638	0.65992	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.23147	1.92;1.92;1.92	4.39	3.23	0.37069	.	0.000000	0.40640	N	0.001053	T	0.49677	0.1571	M	0.83774	2.66	0.49798	D	0.999824	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	T	0.54543	-0.8278	10	0.87932	D	0	-0.6142	9.1028	0.36678	0.9088:0.0:0.0912:0.0	.	496;496	O00562-2;O00562	.;PITM1_HUMAN	R	496	ENSP00000437286:L496R;ENSP00000398787:L496R;ENSP00000348772:L496R	ENSP00000348772:L496R	L	-	2	0	PITPNM1	67022367	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.213000	0.77950	1.856000	0.53863	0.449000	0.29647	CTG		0.652	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		C	67265791	A	C	67265791	3	2	596	1	0	0	0	0	1	0	0	0	11952	188	7	5	2303	5	PITPNM1	11	67265791	Missense_Mutation	SNP	A	TCGA-CZ-5465-01A-01D-1806-10	1629997	67265791	67740725	71	32635											
MLL	4297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118390456	118390456	+	Missense_Mutation	SNP	A	A	G	rs564690648		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr11:118390456A>G	ENST00000389506.5	+	32	11261	c.11261A>G	c.(11260-11262)aAt>aGt	p.N3754S	RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.N3716S|KMT2A_ENST00000534358.1_Missense_Mutation_p.N3757S|RP11-770J1.3_ENST00000528578.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3754					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.N3757S(1)|p.N3754S(1)									GAGGAGGCCAATGAACCCCCC	0.507													A|||	1	0.000199681	0.0	0.0	5008	,	,		20518	0.0		0.0	False		,,,				2504	0.001															2	Substitution - Missense(2)	kidney(2)											119	114	116					11																	118390456		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11261A>G	11.37:g.118390456A>G	ENSP00000374157:p.Asn3754Ser		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672490	0.47781	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;T	0.81499	-1.5;-1.5;-1.47	5.82	5.82	0.92795	.	0.097922	0.64402	D	0.000001	T	0.62925	0.2468	N	0.08118	0	0.48511	D	0.999665	P;P	0.39782	0.688;0.688	B;B	0.31442	0.13;0.13	T	0.69191	-0.5210	10	0.46703	T	0.11	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	3757;3754	E9PQG7;Q03164	.;MLL1_HUMAN	S	3757;3754;3716;2664	ENSP00000436786:N3757S;ENSP00000374157:N3754S;ENSP00000346516:N3716S	ENSP00000346516:N3716S	N	+	2	0	MLL	117895666	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.013000	0.76373	2.225000	0.72522	0.460000	0.39030	AAT		0.507	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		G	118390456	A	G	118390456	3	3	596	1	0	0	0	0	1	0	0	0	9622	101	4	3	11387	3	MLL	11	118390456	Missense_Mutation	SNP	A	TCGA-CZ-5465-01A-01D-1806-10	51124665	118390456	16616060	72	32636											
CCND2	894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	4385304	4385304	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr12:4385304C>G	ENST00000261254.3	+	2	598	c.329C>G	c.(328-330)tCc>tGc	p.S110C	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	110	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.S110C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TTCCTGGCCTCCAAACTCAAA	0.577			T	IGL@	"NHL,CLL"																																		Dom	yes		12	12p13	894	cyclin D2		L	1	Substitution - Missense(1)	kidney(1)											75	66	69					12																	4385304		2203	4300	6503	SO:0001583	missense	894			AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"G1/S-specific cyclin D2"	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.329C>G	12.37:g.4385304C>G	ENSP00000261254:p.Ser110Cys		A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787179	0.90367	.	.	ENSG00000118971	ENST00000261254	T	0.13420	2.59	5.25	5.25	0.73442	Cyclin, N-terminal (1);Cyclin-like (3);	0.051151	0.85682	D	0.000000	T	0.40322	0.1112	M	0.78285	2.405	0.80722	D	1	D	0.55385	0.971	D	0.68353	0.957	T	0.29549	-1.0008	10	0.87932	D	0	.	17.8887	0.88865	0.0:1.0:0.0:0.0	.	110	P30279	CCND2_HUMAN	C	110	ENSP00000261254:S110C	ENSP00000261254:S110C	S	+	2	0	CCND2	4255565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.741000	0.84997	2.479000	0.83701	0.555000	0.69702	TCC		0.577	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		G	4385304	C	G	4385304	3	3	596	1	0	0	0	0	1	0	0	0	2919	855	30	4	335	4	CCND2	12	4385304	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10		4385304	129466591	73	32637											
LRRK2	120892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	40689408	40689408	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr12:40689408C>A	ENST00000298910.7	+	23	3116	c.3058C>A	c.(3058-3060)Cag>Aag	p.Q1020K	LRRK2_ENST00000343742.2_Missense_Mutation_p.Q1020K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1020					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.Q1020K(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGAGCTTCACCAGAATGCACT	0.358																																																2	Substitution - Missense(2)	kidney(2)											67	62	64					12																	40689408		2203	4299	6502	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3058C>A	12.37:g.40689408C>A	ENSP00000298910:p.Gln1020Lys		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392436	0.83011	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.56103	0.48;0.48	5.71	5.71	0.89125	.	0.119263	0.64402	D	0.000019	T	0.58666	0.2138	N	0.21324	0.655	0.46078	D	0.998859	D;P	0.64830	0.994;0.934	D;P	0.64506	0.926;0.634	T	0.51458	-0.8703	10	0.20046	T	0.44	.	19.8379	0.96666	0.0:1.0:0.0:0.0	.	1020;1020	E9PC85;Q5S007	.;LRRK2_HUMAN	K	1020	ENSP00000341930:Q1020K;ENSP00000298910:Q1020K	ENSP00000298910:Q1020K	Q	+	1	0	LRRK2	38975675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.585000	0.67497	2.695000	0.91970	0.591000	0.81541	CAG		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40689408	C	A	40689408	3	1	596	1	0	0	0	0	1	0	0	0	9035	595	21	4	3148	4	LRRK2	12	40689408	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	36304104	40689408	93162487	74	32638											
PRICKLE1	144165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	42853975	42853975	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr12:42853975T>G	ENST00000455697.1	-	8	2417	c.2132A>C	c.(2131-2133)aAa>aCa	p.K711T	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K711T|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K711T|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K711T|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K711T|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	711					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K711T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTGTATAAATTTCTCATAGTT	0.478																																																1	Substitution - Missense(1)	kidney(1)											73	76	75					12																	42853975		2203	4300	6503	SO:0001583	missense	144165			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2132A>C	12.37:g.42853975T>G	ENSP00000401060:p.Lys711Thr		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.189479	0.38707	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.58	4.44	0.53790	.	0.323197	0.38326	N	0.001739	T	0.76709	0.4025	L	0.36672	1.1	0.41513	D	0.988357	B	0.32302	0.363	B	0.24006	0.05	T	0.75241	-0.3387	10	0.56958	D	0.05	0.2251	11.4484	0.50138	0.0:0.0704:0.0:0.9296	.	711	Q96MT3	PRIC1_HUMAN	T	711	ENSP00000401060:K711T;ENSP00000398947:K711T;ENSP00000448359:K711T;ENSP00000345064:K711T;ENSP00000449819:K711T	ENSP00000345064:K711T	K	-	2	0	PRICKLE1	41140242	1.000000	0.71417	0.814000	0.32528	0.997000	0.91878	3.807000	0.55591	1.057000	0.40506	0.533000	0.62120	AAA		0.478	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			G	42853975	T	G	42853975	3	3	596	1	0	0	0	0	1	0	0	0	12491	1841	64	5	367	5	PRICKLE1	12	42853975	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	2164567	42853975	90997920	75	32639											
LETMD1	25875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51449970	51449970	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr12:51449970T>G	ENST00000262055.4	+	6	743	c.704T>G	c.(703-705)cTg>cGg	p.L235R	LETMD1_ENST00000552739.1_Missense_Mutation_p.L118R|LETMD1_ENST00000418425.2_Missense_Mutation_p.L248R|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000550929.1_Missense_Mutation_p.L179R|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_3'UTR	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	235	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.L235R(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATCTTGGCTCTGAGAGAGTGT	0.473																																																1	Substitution - Missense(1)	kidney(1)											172	150	157					12																	51449970		2203	4300	6503	SO:0001583	missense	25875			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.704T>G	12.37:g.51449970T>G	ENSP00000262055:p.Leu235Arg		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332440	0.41297	.	.	ENSG00000050426	ENST00000551477;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000550814;ENST00000418425;ENST00000448283;ENST00000552739	T;T;T;T;T;T;T;T	0.52754	0.71;0.71;0.71;0.71;0.65;0.71;0.71;0.71	4.78	4.78	0.61160	LETM1-like (1);	0.317942	0.30869	N	0.008718	T	0.58119	0.2100	L	0.44542	1.39	0.80722	D	1	D;D;P;D	0.76494	0.999;0.998;0.829;0.998	D;D;B;D	0.74674	0.984;0.972;0.251;0.972	T	0.60667	-0.7218	10	0.72032	D	0.01	-7.1557	10.9106	0.47106	0.0:0.0:0.0:1.0	.	185;248;118;235	F8VVQ3;B3KXK7;F8VP71;Q6P1Q0	.;.;.;LTMD1_HUMAN	R	202;179;235;185;134;118;43;248;185;118	ENSP00000446862:L202R;ENSP00000450163:L179R;ENSP00000262055:L235R;ENSP00000449896:L185R;ENSP00000450275:L134R;ENSP00000447166:L118R;ENSP00000389903:L248R;ENSP00000450333:L118R	ENSP00000262055:L235R	L	+	2	0	LETMD1	49736237	1.000000	0.71417	0.994000	0.49952	0.019000	0.09904	4.595000	0.61048	2.144000	0.66660	0.533000	0.62120	CTG		0.473	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		G	51449970	T	G	51449970	3	3	596	1	0	0	0	0	1	0	0	0	8738	1580	55	5	726	5	LETMD1	12	51449970	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	8595995	51449970	82401925	76	32640											
SP1	6667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53776832	53776832	+	Silent	SNP	T	T	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr12:53776832T>G	ENST00000327443.4	+	3	1199	c.1101T>G	c.(1099-1101)gcT>gcG	p.A367A	SP1_ENST00000426431.2_Silent_p.A360A	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	367	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A367A(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGTCTGATGCTCTGAACATCC	0.498																																																1	Substitution - coding silent(1)	kidney(1)											77	75	76					12																	53776832		2203	4300	6503	SO:0001819	synonymous_variant	6667			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1101T>G	12.37:g.53776832T>G			E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	ENST00000327443.4	37	CCDS8857.1																																																																																				0.498	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			G	53776832	T	G	53776832	2	3	596	1	0	0	0	0	0	0	0	1	14965	1538	54	5		5	SP1	12	53776832	Silent	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	2326862	53776832	80075063	77	32641											
TMTC3	160418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	88560118	88560118	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr12:88560118C>T	ENST00000266712.6	+	7	1029	c.809C>T	c.(808-810)cCa>cTa	p.P270L		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	270					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.P270L(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTGATAACCCAGCTGCTGTA	0.318																																																1	Substitution - Missense(1)	kidney(1)											100	94	96					12																	88560118		2203	4300	6503	SO:0001583	missense	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.809C>T	12.37:g.88560118C>T	ENSP00000266712:p.Pro270Leu		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635373	0.87760	.	.	ENSG00000139324	ENST00000266712	T	0.69561	-0.41	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.87293	0.6141	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90717	0.4632	10	0.66056	D	0.02	-12.0589	18.6916	0.91585	0.0:1.0:0.0:0.0	.	270	Q6ZXV5-2	.	L	270	ENSP00000266712:P270L	ENSP00000266712:P270L	P	+	2	0	TMTC3	87084249	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.751000	0.85126	2.412000	0.81896	0.484000	0.47621	CCA		0.318	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		T	88560118	C	T	88560118	3	4	596	1	0	0	0	0	1	0	0	0	16267	594	21	2	831	2	TMTC3	12	88560118	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	34783286	88560118	45291777	78	32642											
TMTC3	160418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	88584363	88584363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr12:88584363delG	ENST00000266712.6	+	12	1890	c.1670delG	c.(1669-1671)agcfs	p.S557fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	557					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAAGCAATAAGCATGAGGCCC	0.433																																																0													113	98	103					12																	88584363		2203	4300	6503	SO:0001589	frameshift_variant	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1670delG	12.37:g.88584363delG	ENSP00000266712:p.Ser557fs		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	CCDS9032.1																																																																																				0.433	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		-	88584363	G	-	88584363	7	5	596	1	0	1	0	1	0	0	0	0	16267	971	34	0	1712	0	TMTC3	12	88584363	Frame_Shift_Del	DEL	G	TCGA-CZ-5465-01A-01D-1806-10	24245	88584363	45267532	79	32643											
UHRF1BP1L	23074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100452921	100452921	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr12:100452921T>G	ENST00000279907.7	-	14	2346	c.2134A>C	c.(2134-2136)Aaa>Caa	p.K712Q	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.K362Q	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	712								p.K712Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GGCCGTCCTTTTCCACTTTTC	0.388																																																1	Substitution - Missense(1)	kidney(1)											82	87	86					12																	100452921		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2134A>C	12.37:g.100452921T>G	ENSP00000279907:p.Lys712Gln		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.278080	0.59758	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.12039	2.76;2.72	5.78	5.78	0.91487	.	0.045934	0.85682	D	0.000000	T	0.26085	0.0636	L	0.53249	1.67	0.80722	D	1	D	0.55385	0.971	P	0.52598	0.703	T	0.00607	-1.1647	10	0.87932	D	0	-15.4343	16.1141	0.81289	0.0:0.0:0.0:1.0	.	712	A0JNW5	UH1BL_HUMAN	Q	712;362	ENSP00000279907:K712Q;ENSP00000444824:K362Q	ENSP00000279907:K712Q	K	-	1	0	UHRF1BP1L	98977052	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.636000	0.61339	2.214000	0.71695	0.528000	0.53228	AAA		0.388	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		G	100452921	T	G	100452921	3	3	596	1	0	0	0	0	1	0	0	0	16974	1850	64	5	2292	5	UHRF1BP1L	12	100452921	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	11868558	100452921	33398974	80	32644											
LRRC43	254050	hgsc.bcm.edu	37	12	122685163	122685164	+	Missense_Mutation	DNP	AA	AA	GG	rs199718757|rs200955000	byFrequency	TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr12:122685163_122685164AA>GG	ENST00000339777.4	+	9	1604_1605	c.1576_1577AA>GG	c.(1576-1578)AAg>GGg	p.K526G	LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.K341G|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	526	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		caagaaagggaaggagaaagac	0.579																																																0																																										SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	Exception_encountered	12.37:g.122685163_122685164delinsGG	ENSP00000344233:p.Lys526Gly		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	CCDS45001.1																																																																																				0.579	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		GG	122685164	AA	GG	122685163	3	3	596	1	0	0	0	0	1	0	0	0	9003	247	9	3	1610	3	LRRC43	12	122685163	Missense_Mutation	DNP	AA	TCGA-CZ-5465-01A-01D-1806-10	22232242	122685163	11166732	81	32645			1	51		2	2	14	N	G_AA	4.787215e-05
LRRC43	254050	hgsc.bcm.edu	37	12	122685176	122685176	+	Missense_Mutation	SNP	G	G	A	rs527456159	byFrequency	TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr12:122685176G>A	ENST00000339777.4	+	9	1617	c.1589G>A	c.(1588-1590)aGg>aAg	p.R530K	LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.R345K|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	530	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		gagaaagacaggacggggaaa	0.577													G|||	71	0.0141773	0.0008	0.036	5008	,	,		17279	0.0		0.0368	False		,,,				2504	0.0082															0													87	104	98					12																	122685176		1981	4130	6111	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1589G>A	12.37:g.122685176G>A	ENSP00000344233:p.Arg530Lys		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	0.059	-1.227668	0.01518	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.48522	0.81;1.2	3.37	0.927	0.19437	.	0.793313	0.10251	N	0.697195	T	0.25158	0.0611	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29212	-1.0019	10	0.02654	T	1	-17.5604	3.4297	0.07424	0.5356:0.2049:0.2595:0.0	.	530	Q8N309	LRC43_HUMAN	K	530;401;345	ENSP00000344233:R530K;ENSP00000416628:R345K	ENSP00000289014:R401K	R	+	2	0	LRRC43	121251129	0.014000	0.17966	0.002000	0.10522	0.006000	0.05464	0.818000	0.27295	0.061000	0.16311	-0.312000	0.09012	AGG		0.577	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		A	122685176	G	A	122685176	3	1	596	1	0	0	0	0	1	0	0	0	9003	1000	35	2	1623	2	LRRC43	12	122685176	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	13	122685176	11166719	82	32646			1	51		2	2	14	N	G_AA	4.787215e-05
NALCN	259232	broad.mit.edu;hgsc.bcm.edu	37	13	101717877	101717877	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr13:101717877G>A	ENST00000251127.6	-	40	4564	c.4483C>T	c.(4483-4485)Cgg>Tgg	p.R1495W		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1495					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R1495W(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGCAGTAGCCGCAGCAGGAAC	0.567																																																1	Substitution - Missense(1)	kidney(1)											89	72	78					13																	101717877		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4483C>T	13.37:g.101717877G>A	ENSP00000251127:p.Arg1495Trp		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123923	0.77436	.	.	ENSG00000102452	ENST00000251127	D	0.98207	-4.79	5.71	-3.76	0.04359	.	0.000000	0.85682	D	0.000000	D	0.98353	0.9453	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94426	0.7645	10	0.87932	D	0	.	22.1592	0.99967	0.0:0.0:0.1114:0.8886	.	1495	Q8IZF0	NALCN_HUMAN	W	1495	ENSP00000251127:R1495W	ENSP00000251127:R1495W	R	-	1	2	NALCN	100515878	0.998000	0.40836	0.808000	0.32385	0.967000	0.64934	1.474000	0.35398	-1.058000	0.03197	-0.181000	0.13052	CGG		0.567	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		A	101717877	G	A	101717877	3	1	596	1	0	0	0	0	1	0	0	0	10150	1086	38	1	753	1	NALCN	13	101717877	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10		101717877	13452001	83	32647											
IL25	64806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23842465	23842465	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr14:23842465C>A	ENST00000329715.2	+	1	396	c.138C>A	c.(136-138)gaC>gaA	p.D46E	IL25_ENST00000397242.2_Missense_Mutation_p.D30E	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	46					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)	p.D46E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		AAGGGCAGGACACCTCTGAGG	0.597																																																1	Substitution - Missense(1)	kidney(1)											87	74	78					14																	23842465		2203	4300	6503	SO:0001583	missense	64806			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	13765	protein-coding gene	gene with protein product		605658	"interleukin 17E"	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.138C>A	14.37:g.23842465C>A	ENSP00000328111:p.Asp46Glu		Q2M3F0|Q8IZV3|Q8WXB0	Missense_Mutation	SNP	ENST00000329715.2	37	CCDS9597.1	.	.	.	.	.	.	.	.	.	.	C	9.153	1.016746	0.19355	.	.	ENSG00000166090	ENST00000397242;ENST00000329715	T;T	0.54279	0.58;0.58	5.35	0.405	0.16361	.	1.219730	0.05595	N	0.575224	T	0.31888	0.0811	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.002	T	0.14980	-1.0453	10	0.28530	T	0.3	-13.6474	3.6062	0.08043	0.4039:0.3724:0.0:0.2236	.	46;30	Q9H293;Q9H293-2	IL25_HUMAN;.	E	30;46	ENSP00000380417:D30E;ENSP00000328111:D46E	ENSP00000328111:D46E	D	+	3	2	IL25	22912305	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.182000	0.03082	-0.113000	0.11958	0.655000	0.94253	GAC		0.597	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			A	23842465	C	A	23842465	3	1	596	1	0	0	0	0	1	0	0	0	7680	477	17	4	153	4	IL25	14	23842465	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10		23842465	83507075	84	32648											
C14orf39	317761	broad.mit.edu	37	14	60938407	60938407	+	Missense_Mutation	SNP	T	T	A	rs1956551		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr14:60938407T>A	ENST00000321731.3	-	6	533	c.374A>T	c.(373-375)tAc>tTc	p.Y125F		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	125			Y -> C (in dbSNP:rs1956551).		multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.Y125F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTTTAGTTGGTACTGCTTCAA	0.289																																																1	Substitution - Missense(1)	kidney(1)											82	83	82					14																	60938407		2203	4293	6496	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.374A>T	14.37:g.60938407T>A	ENSP00000324920:p.Tyr125Phe		Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140818	0.77775	.	.	ENSG00000179008	ENST00000321731;ENST00000555476	T;T	0.54071	1.4;0.59	5.61	5.61	0.85477	.	0.100459	0.44688	D	0.000436	T	0.69052	0.3068	M	0.67953	2.075	0.31426	N	0.673753	D	0.71674	0.998	D	0.80764	0.994	T	0.72679	-0.4220	10	0.38643	T	0.18	-5.0817	13.7543	0.62926	0.0:0.0:0.0:1.0	.	125	Q8N1H7	S6OS1_HUMAN	F	125;96	ENSP00000324920:Y125F;ENSP00000451665:Y96F	ENSP00000324920:Y125F	Y	-	2	0	C14orf39	60008160	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.941000	0.63540	2.133000	0.65898	0.533000	0.62120	TAC		0.289	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		A	60938407	T	A	60938407	3	1	596	1	0	0	0	0	1	0	0	0	1774	1638	57	5	1441	5	C14orf39	14	60938407	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	37095942	60938407	46411133	85	32649											
RHOJ	57381	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	63735887	63735887	+	Splice_Site	SNP	G	G	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr14:63735887G>C	ENST00000316754.3	+	2	699		c.e2+1		RHOJ_ENST00000555125.1_Splice_Site|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J						actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.?(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CGCGGGACAGGTACATTTTTA	0.453																																																1	Unknown(1)	kidney(1)											138	121	127					14																	63735887		2203	4300	6503	SO:0001630	splice_region_variant	57381			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"RAS-like, family 7, member B", "ras homolog gene family, member J"	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.237+1G>C	14.37:g.63735887G>C			Q96KC1	Splice_Site	SNP	ENST00000316754.3	37	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015377	0.75161	.	.	ENSG00000126785	ENST00000316754;ENST00000555125	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6027	0.84820	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RHOJ	62805640	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.107000	0.71517	2.599000	0.87857	0.655000	0.94253	.		0.453	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3		Intron	C	63735887	G	C	63735887	5	2	596	1	0	0	0	0	0	0	1	0	13347	1275	44	4	244	4	RHOJ	14	63735887	Splice_Site	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	2797480	63735887	43613653	86	32650											
MLH3	27030	hgsc.bcm.edu;ucsc.edu	37	14	75513395	75513396	+	Frame_Shift_Ins	INS	-	-	AT	rs201936675	byFrequency	TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr14:75513395_75513396insAT	ENST00000556740.1	-	1	2998_2999	c.2963_2964insAT	c.(2962-2964)atcfs	p.I988fs	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I988fs|MLH3_ENST00000355774.2_Frame_Shift_Ins_p.I988fs|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I988fs|MLH3_ENST00000555671.1_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	988					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTGAGGCTCTGATAAGAACATC	0.386								Mismatch excision repair (MMR)																																								0																																										SO:0001589	frameshift_variant	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2962_2963dupAT	14.37:g.75513396_75513397dupAT	ENSP00000452316:p.Ile988fs		P49751|Q56DK9|Q9P292|Q9UHC0	Frame_Shift_Ins	INS	ENST00000556740.1	37	CCDS32123.1																																																																																				0.386	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		AT	75513396	-	AT	75513395	7	5	596	1	0	1	1	0	0	0	0	0	9620	1280	45	0	1445	0	MLH3	14	75513395	Frame_Shift_Ins	INS	-	TCGA-CZ-5465-01A-01D-1806-10	11777508	75513395	31836145	87	32651											
ATXN3	4287	hgsc.bcm.edu;ucsc.edu	37	14	92537387	92537388	+	Missense_Mutation	DNP	TT	TT	GC	rs12896588|rs12896589|rs141993435		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr14:92537387_92537388TT>GC	ENST00000532032.1	-	10	891_892	c.882_883AA>GC	c.(880-885)caAAag>caGCag	p.K295Q	ATXN3_ENST00000393287.5_Missense_Mutation_p.K295Q|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000429774.2_Missense_Mutation_p.K288Q|ATXN3_ENST00000340660.6_Missense_Mutation_p.K240Q|ATXN3_ENST00000502250.1_Missense_Mutation_p.K116Q|ATXN3_ENST00000503767.1_Missense_Mutation_p.K280Q|ATXN3_ENST00000545170.1_Missense_Mutation_p.K304Q			P54252	ATX3_HUMAN	ataxin 3	295	Poly-Gln.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		tgttgctgcttttgctgctgTC	0.411																																					Esophageal Squamous(190;752 2094 29897 44875 49530)											0																																										SO:0001583	missense	4287			U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.882_883delinsGC	14.37:g.92537387_92537388delinsGC	ENSP00000437157:p.Lys295Gln		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000532032.1	37																																																																																					0.411	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		GC	92537388	TT	GC	92537387	3	3	596	1	0	0	0	0	1	0	0	0	1213	1850	64	5	210	5	ATXN3	14	92537387	Missense_Mutation	DNP	TT	TCGA-CZ-5465-01A-01D-1806-10	17023992	92537387	14812153	88	32652											
CCPG1	9236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	55669238	55669238	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr15:55669238T>G	ENST00000310958.6	-	5	661	c.363A>C	c.(361-363)gaA>gaC	p.E121D	CCPG1_ENST00000442196.3_Missense_Mutation_p.E121D|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Missense_Mutation_p.E121D|CCPG1_ENST00000569205.1_Missense_Mutation_p.E121D	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	121	Interaction with MCF2L and SRC. {ECO:0000250}.				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)		p.E121D(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CAATGACAACTTCTTGATTTC	0.393																																																1	Substitution - Missense(1)	kidney(1)											132	123	126					15																	55669238		1836	4089	5925	SO:0001583	missense	9236			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.363A>C	15.37:g.55669238T>G	ENSP00000311656:p.Glu121Asp		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399692	0.42512	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.23950	3.34;3.34;1.88	5.31	2.94	0.34122	.	0.069103	0.56097	U	0.000031	T	0.37100	0.0991	L	0.57536	1.79	0.35268	D	0.780184	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.63488	0.915;0.915;0.915	T	0.45731	-0.9241	10	0.59425	D	0.04	.	3.9588	0.09401	0.0:0.2583:0.178:0.5638	.	121;121;121	A8K9T0;Q9ULG6-3;Q9ULG6	.;.;CCPG1_HUMAN	D	121	ENSP00000311656:E121D;ENSP00000403400:E121D;ENSP00000415128:E121D	ENSP00000311656:E121D	E	-	3	2	DYX1C1	53456530	0.995000	0.38212	0.274000	0.24659	0.272000	0.26649	0.388000	0.20735	0.311000	0.23014	0.528000	0.53228	GAA		0.393	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		G	55669238	T	G	55669238	3	3	596	1	0	0	0	0	1	0	0	0	2940	1606	56	5	1926	5	CCPG1	15	55669238	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10		55669238	46862154	89	32653											
AP3B2	8120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	83349701	83349701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr15:83349701delT	ENST00000261722.3	-	7	866	c.659delA	c.(658-660)aacfs	p.N220fs	AP3B2_ENST00000535348.1_Frame_Shift_Del_p.N188fs|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Frame_Shift_Del_p.N220fs	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	220					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTTCCGGTAGTTTTTGTGAAT	0.587																																																0													51	58	56					15																	83349701		2100	4209	6309	SO:0001589	frameshift_variant	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.659delA	15.37:g.83349701delT	ENSP00000261722:p.Asn220fs		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Frame_Shift_Del	DEL	ENST00000261722.3	37	CCDS45331.1																																																																																				0.587	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			-	83349701	T	-	83349701	7	5	596	1	0	1	0	1	0	0	0	0	745	1725	60	0	2593	0	AP3B2	15	83349701	Frame_Shift_Del	DEL	T	TCGA-CZ-5465-01A-01D-1806-10	27680463	83349701	19181691	90	32654											
RGMA	56963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	93616253	93616253	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr15:93616253G>C	ENST00000329082.7	-	2	293	c.22C>G	c.(22-24)Cta>Gta	p.L8V	RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000543599.1_5'UTR|RGMA_ENST00000425933.2_5'UTR|RGMA_ENST00000542321.2_5'UTR|RGMA_ENST00000538818.1_5'UTR|RGMA_ENST00000556087.1_5'UTR|RGMA_ENST00000557420.1_5'UTR|RGMA_ENST00000557301.1_Missense_Mutation_p.L16V	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	8					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.L8V(1)|p.L16V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GTTACCACTAGCCTCTCCCTG	0.592																																																2	Substitution - Missense(2)	kidney(2)											35	45	42					15																	93616253		1911	4123	6034	SO:0001583	missense	56963			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.22C>G	15.37:g.93616253G>C	ENSP00000330005:p.Leu8Val		B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	37	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	G	1.869	-0.460784	0.04508	.	.	ENSG00000182175	ENST00000329082;ENST00000557301	D;D	0.90788	-2.73;-2.7	3.82	2.69	0.31865	.	.	.	.	.	T	0.76644	0.4016	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.003	T	0.67991	-0.5527	9	0.14252	T	0.57	-16.517	7.439	0.27172	0.0:0.1349:0.6127:0.2523	.	16;8	G3V518;Q96B86	.;RGMA_HUMAN	V	8;16	ENSP00000330005:L8V;ENSP00000452126:L16V	ENSP00000330005:L8V	L	-	1	2	RGMA	91417257	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.389000	0.34453	1.819000	0.53055	0.455000	0.32223	CTA		0.592	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		C	93616253	G	C	93616253	3	2	596	1	0	0	0	0	1	0	0	0	13286	962	34	4	1342	4	RGMA	15	93616253	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	10266552	93616253	8915139	91	32655											
SEC14L5	9717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	5040871	5040871	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr16:5040871A>G	ENST00000251170.7	+	5	629	c.449A>G	c.(448-450)aAg>aGg	p.K150R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	150	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.K150R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ATCGCCATGAAGCAGTACACC	0.527																																																1	Substitution - Missense(1)	kidney(1)											45	47	46					16																	5040871		2112	4223	6335	SO:0001583	missense	9717			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.449A>G	16.37:g.5040871A>G	ENSP00000251170:p.Lys150Arg			Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004606	0.74932	.	.	ENSG00000103184	ENST00000251170	T	0.19105	2.17	4.37	3.28	0.37604	PRELI/MSF1 (2);	0.087760	0.47455	N	0.000235	T	0.38665	0.1049	M	0.77103	2.36	0.53688	D	0.999976	B	0.29671	0.254	P	0.47827	0.558	T	0.19353	-1.0308	10	0.45353	T	0.12	-24.4667	9.7337	0.40376	0.9174:0.0:0.0826:0.0	.	150	O43304	S14L5_HUMAN	R	150	ENSP00000251170:K150R	ENSP00000251170:K150R	K	+	2	0	SEC14L5	4980872	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.838000	0.75359	0.719000	0.32188	0.454000	0.30748	AAG		0.527	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			G	5040871	A	G	5040871	3	3	596	1	0	0	0	0	1	0	0	0	13991	72	3	3	463	3	SEC14L5	16	5040871	Missense_Mutation	SNP	A	TCGA-CZ-5465-01A-01D-1806-10		5040871	85313882	92	32656											
C16orf62	57020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	19641134	19641134	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr16:19641134C>G	ENST00000251143.5	+	18	1558	c.1546C>G	c.(1546-1548)Cat>Gat	p.H516D	C16orf62_ENST00000542263.1_Missense_Mutation_p.H538D|C16orf62_ENST00000448695.1_Missense_Mutation_p.H366D|C16orf62_ENST00000543152.1_Missense_Mutation_p.H265D|C16orf62_ENST00000417362.2_Missense_Mutation_p.H449D|C16orf62_ENST00000438132.3_Missense_Mutation_p.H605D			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	516						integral component of membrane (GO:0016021)		p.H516D(1)|p.H605D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CACCTGCAAGCATTTCACGGT	0.338																																																2	Substitution - Missense(2)	kidney(2)											247	208	221					16																	19641134		2197	4300	6497	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1546C>G	16.37:g.19641134C>G	ENSP00000251143:p.His516Asp		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37		.	.	.	.	.	.	.	.	.	.	C	24.1	4.491948	0.84962	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	M	0.82323	2.585	0.80722	D	1	D;D	0.67145	0.989;0.996	D;D	0.77557	0.985;0.99	T	0.74337	-0.3698	9	.	.	.	-15.6406	18.8611	0.92271	0.0:1.0:0.0:0.0	.	538;516	F5H7K1;Q7Z3J2	.;CP062_HUMAN	D	605;538;516;449;366	ENSP00000400815:H605D;ENSP00000442468:H538D;ENSP00000251143:H516D;ENSP00000395973:H449D;ENSP00000398009:H366D	.	H	+	1	0	C16orf62	19548635	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.779000	0.75057	2.549000	0.85964	0.557000	0.71058	CAT		0.338	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		G	19641134	C	G	19641134	3	3	596	1	0	0	0	0	1	0	0	0	1827	710	25	4	1616	4	C16orf62	16	19641134	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	14600263	19641134	70713619	93	32657											
ATXN2L	11273	broad.mit.edu;ucsc.edu	37	16	28847500	28847500	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr16:28847500G>A	ENST00000336783.4	+	22	3309	c.3142G>A	c.(3142-3144)Gag>Aag	p.E1048K	ATXN2L_ENST00000340394.8_Intron|ATXN2L_ENST00000325215.6_Intron|ATXN2L_ENST00000564304.1_Intron|ATXN2L_ENST00000395547.2_Intron|ATXN2L_ENST00000570200.1_Intron|ATXN2L_ENST00000382686.4_Intron|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1048					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.E1048K(1)|p.?(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAGGATTCGTGAGTTCTCATT	0.617																																																2	Substitution - Missense(1)|Unknown(1)	kidney(2)											69	79	76					16																	28847500		2196	4300	6496	SO:0001583	missense	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3142G>A	16.37:g.28847500G>A	ENSP00000338718:p.Glu1048Lys		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	14.39	2.521920	0.44866	.	.	ENSG00000168488	ENST00000336783	T	0.47869	0.83	5.95	3.99	0.46301	.	.	.	.	.	T	0.23965	0.0580	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06625	-1.0816	8	.	.	.	.	8.281	0.31900	0.1742:0.0:0.8258:0.0	.	1048	Q8WWM7	ATX2L_HUMAN	K	1048	ENSP00000338718:E1048K	.	E	+	1	0	ATXN2L	28755001	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.711000	0.61881	1.523000	0.49018	0.563000	0.77884	GAG		0.617	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		A	28847500	G	A	28847500	3	1	596	1	0	0	0	0	1	0	0	0	1212	1291	45	2	3228	2	ATXN2L	16	28847500	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	9206366	28847500	61507253	94	32658											
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7727491	7727491	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr17:7727491G>C	ENST00000572933.1	+	76	12991	c.11531G>C	c.(11530-11532)gGt>gCt	p.G3844A	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3844A			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3844	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G3844A(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTCCCCTGGTGTGGACCCC	0.637																																																1	Substitution - Missense(1)	kidney(1)											83	73	77					17																	7727491		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11531G>C	17.37:g.7727491G>C	ENSP00000458355:p.Gly3844Ala		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393868	0.83011	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.50277	0.75	4.9	4.9	0.64082	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.81456	0.4826	H	0.99026	4.405	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.74348	0.971;0.983	D	0.89629	0.3854	10	0.87932	D	0	.	16.833	0.85949	0.0:0.0:1.0:0.0	.	3805;3844	Q9P225-2;Q9P225	.;DYH2_HUMAN	A	3805;3844	ENSP00000373825:G3844A	ENSP00000353818:G3805A	G	+	2	0	DNAH2	7668216	1.000000	0.71417	0.372000	0.25991	0.940000	0.58332	8.994000	0.93529	2.281000	0.76405	0.407000	0.27541	GGT		0.637	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		C	7727491	G	C	7727491	3	2	596	1	0	0	0	0	1	0	0	0	4604	1261	44	4	11829	4	DNAH2	17	7727491	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10		7727491	73467719	95	32659											
MYO15A	51168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18055188	18055188	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr17:18055188C>T	ENST00000205890.5	+	41	8154	c.7816C>T	c.(7816-7818)Cgg>Tgg	p.R2606W	MYO15A_ENST00000418233.3_5'Flank|MYO15A_ENST00000585180.1_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2606	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R2606W(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTTCATGAAGCGGCCAGACCC	0.577																																																1	Substitution - Missense(1)	kidney(1)											41	47	45					17																	18055188		2028	4173	6201	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7816C>T	17.37:g.18055188C>T	ENSP00000205890:p.Arg2606Trp		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176378	0.57692	.	.	ENSG00000091536	ENST00000205890	D	0.88277	-2.36	5.24	2.95	0.34219	.	.	.	.	.	T	0.80602	0.4654	L	0.29908	0.895	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.76833	-0.2813	9	0.87932	D	0	.	6.2759	0.20981	0.3292:0.5756:0.0:0.0952	.	2606	Q9UKN7	MYO15_HUMAN	W	2606	ENSP00000205890:R2606W	ENSP00000205890:R2606W	R	+	1	2	MYO15A	17995913	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	5.152000	0.64882	1.335000	0.45486	0.561000	0.74099	CGG		0.577	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		T	18055188	C	T	18055188	3	4	596	1	0	0	0	0	1	0	0	0	10065	759	27	1	7970	1	MYO15A	17	18055188	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	10327697	18055188	63140022	96	32660											
COASY	80347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40715086	40715086	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr17:40715086C>T	ENST00000393818.2	+	1	902	c.446C>T	c.(445-447)tCg>tTg	p.S149L	COASY_ENST00000449624.1_5'UTR|COASY_ENST00000420359.1_Missense_Mutation_p.S149L|COASY_ENST00000590958.1_Missense_Mutation_p.S178L|COASY_ENST00000421097.2_Missense_Mutation_p.S149L|RP11-400F19.8_ENST00000585572.1_RNA	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	149					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.S149L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CGACTGGCCTCGGTGCTGCTA	0.597																																																1	Substitution - Missense(1)	kidney(1)											122	115	117					17																	40715086		2203	4300	6503	SO:0001583	missense	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.446C>T	17.37:g.40715086C>T	ENSP00000377406:p.Ser149Leu		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865259	0.91511	.	.	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818	T;T;T	0.35421	1.46;1.31;1.31	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.72338	0.977;0.645	T	0.51252	-0.8729	10	0.87932	D	0	-12.5587	17.0344	0.86470	0.0:1.0:0.0:0.0	.	178;149	Q13057-2;Q13057	.;COASY_HUMAN	L	178;149;149	ENSP00000393564:S178L;ENSP00000413338:S149L;ENSP00000377406:S149L	ENSP00000377406:S149L	S	+	2	0	COASY	37968612	1.000000	0.71417	0.123000	0.21794	0.514000	0.34195	5.641000	0.67881	2.630000	0.89119	0.561000	0.74099	TCG		0.597	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		T	40715086	C	T	40715086	3	4	596	1	0	0	0	0	1	0	0	0	3654	893	31	1	539	1	COASY	17	40715086	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	22659898	40715086	40480124	97	32661											
ADAM11	4185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42854119	42854119	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr17:42854119C>G	ENST00000200557.6	+	19	1742	c.1573C>G	c.(1573-1575)Cct>Gct	p.P525A	ADAM11_ENST00000535346.1_Missense_Mutation_p.P325A	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	525	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P525A(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACAGTGCCCGCCTAACCTGCA	0.622																																																2	Substitution - Missense(2)	kidney(2)											99	85	90					17																	42854119		2203	4300	6503	SO:0001583	missense	4185			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1573C>G	17.37:g.42854119C>G	ENSP00000200557:p.Pro525Ala		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	8.264	0.811885	0.16537	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.10477	2.87;2.87	4.45	4.45	0.53987	Blood coagulation inhibitor, Disintegrin (6);	0.135636	0.49916	D	0.000127	T	0.05914	0.0154	N	0.20328	0.56	0.41469	D	0.988097	B;B	0.23591	0.043;0.088	B;B	0.21917	0.037;0.021	T	0.36383	-0.9750	10	0.15066	T	0.55	.	6.244	0.20807	0.0:0.71:0.1906:0.0994	.	325;525	B4DKD2;O75078	.;ADA11_HUMAN	A	525;325;425	ENSP00000200557:P525A;ENSP00000443773:P325A	ENSP00000200557:P525A	P	+	1	0	ADAM11	40209645	0.683000	0.27633	1.000000	0.80357	0.300000	0.27592	3.139000	0.50577	2.313000	0.78055	0.297000	0.19635	CCT		0.622	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		G	42854119	C	G	42854119	3	3	596	1	0	0	0	0	1	0	0	0	235	739	26	4	1647	4	ADAM11	17	42854119	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	2139033	42854119	38341091	98	32662											
BRIP1	83990	broad.mit.edu;hgsc.bcm.edu	37	17	59820468	59820468	+	Missense_Mutation	SNP	C	C	T	rs200960251		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr17:59820468C>T	ENST00000259008.2	-	16	2552	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	BRIP1_ENST00000577598.1_Missense_Mutation_p.R762H	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	762					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R762H(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CACTTTACCACGACAAACTGC	0.388			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					C|||	1	0.000199681	0.0	0.0	5008	,	,		17133	0.0		0.001	False		,,,				2504	0.0					yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	2	Substitution - Missense(2)	kidney(2)											97	88	91					17																	59820468		2203	4300	6503	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2285G>A	17.37:g.59820468C>T	ENSP00000259008:p.Arg762His		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.93	2.977898	0.53720	.	.	ENSG00000136492	ENST00000259008	T	0.70986	-0.53	5.08	5.08	0.68730	Helicase, ATP-dependent, c2 type (1);	0.000000	0.85682	D	0.000000	D	0.89705	0.6792	H	0.96805	3.885	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93274	0.6654	9	.	.	.	-13.1256	17.4652	0.87630	0.0:1.0:0.0:0.0	.	762;762	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	H	762	ENSP00000259008:R762H	.	R	-	2	0	BRIP1	57175250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.162000	0.77515	2.360000	0.80028	0.557000	0.71058	CGT		0.388	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		T	59820468	C	T	59820468	3	4	596	1	0	0	0	0	1	0	0	0	1516	536	19	1	1484	1	BRIP1	17	59820468	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	16966349	59820468	21374742	99	32663											
SCN4A	6329	broad.mit.edu;hgsc.bcm.edu	37	17	62029159	62029159	+	Silent	SNP	G	G	T	rs371914255		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr17:62029159G>T	ENST00000435607.1	-	14	2554	c.2478C>A	c.(2476-2478)atC>atA	p.I826I	SCN4A_ENST00000578147.1_Silent_p.I826I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	826					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I826I(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGATGCGCCCGATGGCAATCT	0.607																																																1	Substitution - coding silent(1)	kidney(1)											13	14	14					17																	62029159		2042	4181	6223	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2478C>A	17.37:g.62029159G>T			Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																				0.607	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		T	62029159	G	T	62029159	2	4	596	1	0	0	0	0	0	0	0	1	13926	1048	37	4		4	SCN4A	17	62029159	Silent	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	2208691	62029159	19166051	100	32664											
PTPRM	5797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	7955120	7955120	+	Splice_Site	SNP	A	A	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr18:7955120A>T	ENST00000332175.8	+	7	1877	c.840A>T	c.(838-840)gaA>gaT	p.E280D	PTPRM_ENST00000400053.4_Splice_Site_p.E218D|PTPRM_ENST00000444013.1_Splice_Site_p.E67D|PTPRM_ENST00000400060.4_Splice_Site_p.E280D|PTPRM_ENST00000580170.1_Splice_Site_p.E280D	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	280					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E280D(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTCTTTCAGAACCACCCGTTC	0.443																																																1	Substitution - Missense(1)	kidney(1)											64	62	63					18																	7955120		2203	4300	6503	SO:0001630	splice_region_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.839-1A>T	18.37:g.7955120A>T			A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.618058	0.46736	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	6.02	-8.1	0.01086	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.160023	0.56097	D	0.000035	T	0.69033	0.3066	L	0.55990	1.75	0.44694	D	0.997684	B;B;B	0.25719	0.132;0.032;0.032	B;B;B	0.21151	0.033;0.011;0.011	T	0.37174	-0.9717	10	0.40728	T	0.16	.	20.6393	0.99526	0.2766:0.0:0.7234:0.0	.	67;280;280	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	D	280;280;218;67	ENSP00000331418:E280D;ENSP00000382933:E280D;ENSP00000382927:E218D;ENSP00000387608:E67D	ENSP00000331418:E280D	E	+	3	2	PTPRM	7945120	0.770000	0.28543	0.509000	0.27700	0.960000	0.62799	-0.017000	0.12590	-1.573000	0.01659	-0.408000	0.06270	GAA		0.443	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		Missense_Mutation	T	7955120	A	T	7955120	5	4	596	1	0	0	0	0	0	0	1	0	12812	57	2	5	866	5	PTPRM	18	7955120	Splice_Site	SNP	A	TCGA-CZ-5465-01A-01D-1806-10		7955120	70122128	101	32665											
ABCA7	10347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1044699	1044699	+	Missense_Mutation	SNP	G	G	A	rs35732553		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr19:1044699G>A	ENST00000263094.6	+	11	1402	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T	ABCA7_ENST00000433129.1_Missense_Mutation_p.A391T|ABCA7_ENST00000435683.2_Missense_Mutation_p.A253T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	391					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.A391T(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACGCACACGCTGATGTGGG	0.672																																																1	Substitution - Missense(1)	kidney(1)											41	41	41					19																	1044699		2199	4299	6498	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1171G>A	19.37:g.1044699G>A	ENSP00000263094:p.Ala391Thr		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724424	0.48728	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86297	-2.1;-2.1	3.93	2.74	0.32292	.	.	.	.	.	D	0.85720	0.5762	L	0.57536	1.79	0.09310	N	1	P;P	0.51653	0.938;0.947	P;B	0.48654	0.585;0.256	T	0.75147	-0.3420	9	0.42905	T	0.14	.	6.9982	0.24795	0.1602:0.0:0.8398:0.0	.	253;391	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	T	391	ENSP00000263094:A391T;ENSP00000414062:A391T	ENSP00000263094:A391T	A	+	1	0	ABCA7	995699	0.000000	0.05858	0.003000	0.11579	0.180000	0.23129	0.380000	0.20602	0.826000	0.34661	0.455000	0.32223	GCT		0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		A	1044699	G	A	1044699	3	1	596	1	0	0	0	0	1	0	0	0	37	1087	38	1	1209	1	ABCA7	19	1044699	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10		1044699	58084284	102	32666											
ZNF507	22847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	32843992	32843992	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr19:32843992T>A	ENST00000311921.4	+	2	448	c.256T>A	c.(256-258)Tgt>Agt	p.C86S	ZNF507_ENST00000544431.1_Missense_Mutation_p.C86S|ZNF507_ENST00000355898.5_Missense_Mutation_p.C86S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C86S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CCAAGAACTTTGTGAGATTCC	0.423																																																1	Substitution - Missense(1)	kidney(1)											66	67	67					19																	32843992		2203	4300	6503	SO:0001583	missense	22847			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.256T>A	19.37:g.32843992T>A	ENSP00000312277:p.Cys86Ser		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.094301	0.36952	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.05925	3.7;3.7;3.37	5.8	4.78	0.61160	.	0.452660	0.28659	N	0.014566	T	0.07638	0.0192	M	0.61703	1.905	0.30667	N	0.75376	B;P	0.41848	0.255;0.763	B;B	0.37144	0.026;0.242	T	0.10567	-1.0624	10	0.33141	T	0.24	.	8.2295	0.31590	0.0:0.0689:0.1353:0.7958	.	86;86	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	S	86	ENSP00000348162:C86S;ENSP00000312277:C86S;ENSP00000441549:C86S	ENSP00000312277:C86S	C	+	1	0	ZNF507	37535832	0.057000	0.20700	0.720000	0.30636	0.785000	0.44390	0.583000	0.23849	0.997000	0.38969	0.402000	0.26972	TGT		0.423	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		A	32843992	T	A	32843992	3	1	596	1	0	0	0	0	1	0	0	0	17958	1812	63	5	258	5	ZNF507	19	32843992	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	31799293	32843992	26284991	103	32667											
SAPS1	22870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55752433	55752436	+	Frame_Shift_Del	DEL	ATGG	ATGG	-	rs370452155		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	ATGG	ATGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr19:55752433_55752436delATGG	ENST00000412770.2	-	10	1739_1742	c.1173_1176delCCAT	c.(1171-1176)ttccatfs	p.FH391fs	PPP6R1_ENST00000587283.1_Frame_Shift_Del_p.FH391fs	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	391	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						TGAAGACATAATGGAAGAAGAGGT	0.627																																																0																																										SO:0001589	frameshift_variant	22870			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1173_1176delCCAT	19.37:g.55752433_55752436delATGG	ENSP00000414202:p.Phe391fs		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Frame_Shift_Del	DEL	ENST00000412770.2	37	CCDS46186.1																																																																																				0.627	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		-	55752436	ATGG	-	55752433	7	5	596	1	0	1	0	1	0	0	0	0	13842	98	4	0	1529	0	SAPS1	19	55752433	Frame_Shift_Del	DEL	ATGG	TCGA-CZ-5465-01A-01D-1806-10	22908441	55752433	3376550	104	32668											
ZNF132	7691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58948571	58948571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr19:58948571C>T	ENST00000254166.3	-	2	475	c.75G>A	c.(73-75)tgG>tgA	p.W25*		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W25*(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AGCCACAGGGCCAAGAAGTAT	0.463																																																1	Substitution - Nonsense(1)	kidney(1)											77	68	71					19																	58948571		2203	4300	6503	SO:0001587	stop_gained	7691			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.75G>A	19.37:g.58948571C>T	ENSP00000254166:p.Trp25*		Q32MI9	Nonsense_Mutation	SNP	ENST00000254166.3	37	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784475	0.90282	.	.	ENSG00000131849	ENST00000254166	.	.	.	2.92	0.607	0.17564	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	3.9121	0.09207	0.2349:0.6251:0.0:0.14	.	.	.	.	X	25	.	ENSP00000254166:W25X	W	-	3	0	ZNF132	63640383	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	-0.341000	0.07811	0.067000	0.16545	0.563000	0.77884	TGG		0.463	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		T	58948571	C	T	58948571	4	4	596	1	0	0	0	0	0	1	0	0	17727	740	26	2	2053	2	ZNF132	19	58948571	Nonsense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	3196138	58948571	180412	105	32669											
FERMT1	55612	broad.mit.edu;ucsc.edu	37	20	6069695	6069695	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr20:6069695A>C	ENST00000217289.4	-	10	1969	c.1181T>G	c.(1180-1182)tTt>tGt	p.F394C	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.F137C	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	394	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)		p.F394C(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTTAAAGATAAACCAATATTG	0.353																																																2	Substitution - Missense(2)	kidney(2)											140	150	147					20																	6069695		2203	4300	6503	SO:0001583	missense	55612			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1181T>G	20.37:g.6069695A>C	ENSP00000217289:p.Phe394Cys		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	a	7.167	0.586815	0.13749	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	D;D	0.97665	-4.48;-4.48	5.75	5.75	0.90469	Band 4.1 domain (1);FERM central domain (2);Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	L	0.49778	1.585	0.80722	D	1	B;B	0.33044	0.343;0.395	B;B	0.40009	0.25;0.316	D	0.95078	0.8210	10	0.34782	T	0.22	-22.3035	16.0768	0.80974	1.0:0.0:0.0:0.0	.	394;394	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	C	394;137;394	ENSP00000217289:F394C;ENSP00000441063:F137C	ENSP00000217289:F394C	F	-	2	0	FERMT1	6017695	1.000000	0.71417	0.954000	0.39281	0.209000	0.24338	5.881000	0.69706	2.205000	0.71048	0.449000	0.29647	TTT		0.353	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		C	6069695	A	C	6069695	3	2	596	1	0	0	0	0	1	0	0	0	5819	14	1	5	876	5	FERMT1	20	6069695	Missense_Mutation	SNP	A	TCGA-CZ-5465-01A-01D-1806-10		6069695	56955825	106	32670											
PLK1S1	101929591	broad.mit.edu	37	20	21143043	21143043	+	RNA	SNP	G	G	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr20:21143043G>A	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TGAAGTTGAGGAAAAAAGAGC	0.443																																																0													36	39	38					20																	21143043		1858	4101	5959			55857																															20.37:g.21143043G>A				Missense_Mutation	SNP	ENST00000591761.1	37																																																																																					0.443	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			A	21143043	G	A	21143043	1	1	596	0	1	0	0	0	0	0	0	0	12097	1175	41	2		2	PLK1S1	20	21143043	RNA	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	15073348	21143043	41882477	107	32671											
RNF160	26046	hgsc.bcm.edu;ucsc.edu	37	21	30339421	30339422	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr21:30339421_30339422insA	ENST00000361371.5	-	10	1470_1471	c.1391_1392insT	c.(1390-1392)ctafs	p.L464fs	LTN1_ENST00000389194.2_Frame_Shift_Ins_p.L510fs|LTN1_ENST00000389195.2_Frame_Shift_Ins_p.L510fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	464					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCCAGGAACTTAGAGTTTCTGC	0.401																																																0																																										SO:0001589	frameshift_variant	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1392dupT	21.37:g.30339422_30339422dupA	ENSP00000354977:p.Leu464fs		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Ins	INS	ENST00000361371.5	37																																																																																					0.401	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		A	30339422	-	A	30339421	7	5	596	1	0	1	1	0	0	0	0	0	13461	1741	61	0	3992	0	RNF160	21	30339421	Frame_Shift_Ins	INS	-	TCGA-CZ-5465-01A-01D-1806-10		30339421	17790474	108	32672											
TTC3	7267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	38539860	38539860	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr21:38539860T>A	ENST00000399017.2	+	34	7152	c.4405T>A	c.(4405-4407)Tct>Act	p.S1469T	TTC3_ENST00000355666.1_Missense_Mutation_p.S1469T|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.S1469T	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1469					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1469T(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCCACAGGTATCTTGGAACAT	0.323																																					Ovarian(38;194 1649 35661)											1	Substitution - Missense(1)	kidney(1)											72	70	71					21																	38539860		2203	4295	6498	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.4405T>A	21.37:g.38539860T>A	ENSP00000381981:p.Ser1469Thr		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748611	0.49257	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.08634	3.07;3.07;3.07	5.78	-2.12	0.07165	.	0.730142	0.12928	N	0.427586	T	0.11580	0.0282	M	0.62723	1.935	0.19300	N	0.999975	D;P	0.56287	0.975;0.953	P;P	0.53861	0.736;0.551	T	0.15378	-1.0439	10	0.37606	T	0.19	-0.9535	0.6461	0.00818	0.1815:0.1736:0.2903:0.3546	.	527;1469	Q5GIT6;P53804	.;TTC3_HUMAN	T	1469	ENSP00000347889:S1469T;ENSP00000381981:S1469T;ENSP00000346791:S1469T	ENSP00000346791:S1469T	S	+	1	0	TTC3	37461730	0.021000	0.18746	0.354000	0.25760	0.005000	0.04900	-0.308000	0.08156	-0.058000	0.13177	0.533000	0.62120	TCT		0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			A	38539860	T	A	38539860	3	1	596	1	0	0	0	0	1	0	0	0	16702	1435	50	5	4535	5	TTC3	21	38539860	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	8200439	38539860	9590035	109	32673											
MIOX	55586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50927866	50927867	+	Frame_Shift_Ins	INS	-	-	C	rs140383906		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chr22:50927866_50927867insC	ENST00000216075.6	+	8	701_702	c.627_628insC	c.(628-630)cccfs	p.P210fs	MIOX_ENST00000395732.3_Frame_Shift_Ins_p.P210fs|MIOX_ENST00000395733.3_Intron	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	210					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTTCTCACTGCCCCCTGAGGT	0.658																																																0																																										SO:0001589	frameshift_variant	55586			AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"kidney-specific protein 32"	606774	"aldehyde reductase (aldose reductase) like 6"	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.632dupC	22.37:g.50927871_50927871dupC	ENSP00000216075:p.Pro210fs		Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Frame_Shift_Ins	INS	ENST00000216075.6	37	CCDS14092.1																																																																																				0.658	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584		C	50927867	-	C	50927866	7	5	596	1	0	1	1	0	0	0	0	0	9592	1306	46	0	657	0	MIOX	22	50927866	Frame_Shift_Ins	INS	-	TCGA-CZ-5465-01A-01D-1806-10		50927866	376700	110	32674											
CSF2RA	1438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1413322	1413322	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chrX:1413322G>T	ENST00000381524.3	+	8	934	c.748G>T	c.(748-750)Gac>Tac	p.D250Y	MIR3690_ENST00000580266.1_RNA|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000355432.3_Missense_Mutation_p.D250Y|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.D117Y|BX649553.2_ENST00000578699.1_RNA|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.D250Y|CSF2RA_ENST00000432318.2_Missense_Mutation_p.D250Y|CSF2RA_ENST00000361536.3_Missense_Mutation_p.D250Y|CSF2RA_ENST00000381529.3_Missense_Mutation_p.D250Y|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000381509.3_Missense_Mutation_p.D250Y|BX649553.1_ENST00000583047.1_RNA|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.D250Y			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	250	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.D250Y(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCGTACCTGGACTTTCAGTA	0.612																																					Esophageal Squamous(131;723 1707 25334 40494 41806)											3	Substitution - Missense(3)	kidney(3)											269	216	234					X																	1413322		2203	4296	6499	SO:0001583	missense	1438			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.748G>T	X.37:g.1413322G>T	ENSP00000370935:p.Asp250Tyr		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	12.16	1.853760	0.32791	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D	0.95918	-3.85;-3.85;-2.06;-2.06;-3.85;-3.85;-2.06;-3.85;-2.06	1.54	1.54	0.23209	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.829873	0.09880	U	0.743750	D	0.96119	0.8735	.	.	.	0.09310	N	1	D;D;D;D;D	0.67145	0.996;0.99;0.993;0.991;0.984	P;P;P;P;P	0.62560	0.904;0.527;0.78;0.718;0.527	D	0.88373	0.2996	9	0.62326	D	0.03	.	6.3374	0.21304	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	Y	250;250;250;250;117;250;250;250;250;250	ENSP00000370940:D250Y;ENSP00000416437:D250Y;ENSP00000354836:D250Y;ENSP00000440491:D117Y;ENSP00000370935:D250Y;ENSP00000370920:D250Y;ENSP00000347606:D250Y;ENSP00000394227:D250Y;ENSP00000370911:D250Y	ENSP00000347606:D250Y	D	+	1	0	CSF2RA	1373322	0.020000	0.18652	0.054000	0.19295	0.259000	0.26198	1.450000	0.35134	0.818000	0.34468	0.100000	0.15512	GAC		0.612	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			T	1413322	G	T	1413322	3	4	596	1	0	0	0	0	1	0	0	0	3936	1174	41	4	770	4	CSF2RA	23	1413322	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10		1413322	153857238	111	32675											
FAM47A	158724	broad.mit.edu	37	X	34148882	34148882	+	Missense_Mutation	SNP	C	C	T	rs5973089		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chrX:34148882C>T	ENST00000346193.3	-	1	1565	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	505			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.					p.R505H(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCTCCGAGCGGAGACTGGA	0.647																																																2	Substitution - Missense(2)	kidney(1)|endometrium(1)											30	31	31					X																	34148882		2183	4272	6455	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1514G>A	X.37:g.34148882C>T	ENSP00000345029:p.Arg505His		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	0.583	-0.836375	0.02692	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	0.513	-0.53	0.11898	.	.	.	.	.	T	0.11623	0.0283	N	0.21097	0.63	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.28106	-1.0054	8	0.40728	T	0.16	.	.	.	.	rs5973089	505	Q5JRC9	FA47A_HUMAN	H	505	ENSP00000345029:R505H	ENSP00000345029:R505H	R	-	2	0	FAM47A	34058803	0.076000	0.21285	0.002000	0.10522	0.006000	0.05464	-0.425000	0.07017	-0.338000	0.08413	-0.722000	0.03604	CGC		0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		T	34148882	C	T	34148882	3	4	596	1	0	0	0	0	1	0	0	0	5571	768	27	1	865	1	FAM47A	23	34148882	Missense_Mutation	SNP	C	TCGA-CZ-5465-01A-01D-1806-10	32735560	34148882	121121678	112	32676											
KDM6A	7403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	44879876	44879878	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	GGT	GGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chrX:44879876_44879878delGGT	ENST00000377967.4	+	6	506_508	c.465_467delGGT	c.(463-468)gaggtg>gag	p.V156del	KDM6A_ENST00000536777.1_In_Frame_Del_p.V156del|KDM6A_ENST00000382899.4_In_Frame_Del_p.V156del|KDM6A_ENST00000543216.1_In_Frame_Del_p.V156del	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	156	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CATTTCAGGAGGTGCTTTATGTT	0.36			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	21	No detectable mRNA/protein(14)|Whole gene deletion(6)|Unknown(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(4)|pancreas(2)																																								SO:0001651	inframe_deletion	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.465_467delGGT	X.37:g.44879876_44879878delGGT	ENSP00000367203:p.Val156del		Q52LL9|Q5JVQ7	In_Frame_Del	DEL	ENST00000377967.4	37	CCDS14265.1																																																																																				0.36	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		-	44879878	GGT	-	44879876	7	5	596	1	0	1	0	1	0	0	0	0	8139	991	35	0	487	0	KDM6A	23	44879876	In_Frame_Del	DEL	GGT	TCGA-CZ-5465-01A-01D-1806-10	10730994	44879876	110390684	113	32677											
PORCN	64840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48378842	48378842	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chrX:48378842T>G	ENST00000326194.6	+	14	1407	c.1364T>G	c.(1363-1365)aTc>aGc	p.I455S	PORCN_ENST00000537758.1_Missense_Mutation_p.I455S|PORCN_ENST00000361988.3_Missense_Mutation_p.I444S|PORCN_ENST00000355961.4_Missense_Mutation_p.I450S|PORCN_ENST00000359882.4_Missense_Mutation_p.I449S|EBP_ENST00000495186.1_5'Flank|PORCN_ENST00000367574.4_Missense_Mutation_p.I373S|PORCN_ENST00000355092.3_Missense_Mutation_p.I449S	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	455					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.I455S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGATGCTGGATCTTCTACCGT	0.562																																																1	Substitution - Missense(1)	kidney(1)											146	109	122					X																	48378842		2203	4300	6503	SO:0001583	missense	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.1364T>G	X.37:g.48378842T>G	ENSP00000322304:p.Ile455Ser		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230417	0.79688	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D	0.97888	-3.59;-4.59;-3.3;-3.59;-3.59;-4.59;-3.59	5.31	5.31	0.75309	.	0.255981	0.41001	D	0.000965	D	0.96106	0.8731	L	0.40543	1.245	0.49051	D	0.999742	P;P;P;P;P	0.51791	0.948;0.725;0.59;0.893;0.948	P;B;B;P;P	0.47528	0.549;0.347;0.347;0.463;0.549	D	0.96003	0.8995	10	0.72032	D	0.01	-10.3226	12.1995	0.54317	0.0:0.0:0.0:1.0	.	449;455;373;444;450	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	S	449;455;373;450;444;455;449	ENSP00000352946:I449S;ENSP00000446401:I455S;ENSP00000356546:I373S;ENSP00000348233:I450S;ENSP00000354978:I444S;ENSP00000322304:I455S;ENSP00000347207:I449S	ENSP00000322304:I455S	I	+	2	0	PORCN	48263786	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.970000	0.76099	1.785000	0.52413	0.372000	0.22366	ATC		0.562	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		G	48378842	T	G	48378842	3	3	596	1	0	0	0	0	1	0	0	0	12260	1435	50	5	1418	5	PORCN	23	48378842	Missense_Mutation	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	3498966	48378842	106891718	114	32678											
SHROOM4	57477	hgsc.bcm.edu	37	X	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT	rs201922875|rs553160982		TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ|SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																0										12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SO:0001652	inframe_insertion	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup		A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	ENST00000289292.7	37	CCDS35277.1																																																																																				0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		TGCTGCTGCTGT	50350759	-	TGCTGCTGCTGT	50350758	7	5	596	1	0	1	1	0	0	0	0	0	14302	912	32	0	1113	0	SHROOM4	23	50350758	In_Frame_Ins	INS	-	TCGA-CZ-5465-01A-01D-1806-10	1971916	50350758	104919802	115	32679											
OPHN1	4983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	67413751	67413751	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chrX:67413751G>C	ENST00000355520.5	-	14	1823	c.1182C>G	c.(1180-1182)atC>atG	p.I394M	OPHN1_ENST00000540071.1_Missense_Mutation_p.I394M	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	394	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.I394M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAATAATATTGATGCACTTCC	0.408																																																1	Substitution - Missense(1)	kidney(1)											191	146	161					X																	67413751		2203	4300	6503	SO:0001583	missense	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1182C>G	X.37:g.67413751G>C	ENSP00000347710:p.Ile394Met		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546039	0.65198	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.21932	1.98;1.98	4.86	4.86	0.63082	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	M	0.90082	3.085	0.80722	D	1	P;D	0.63046	0.816;0.992	B;P	0.61592	0.405;0.891	T	0.61515	-0.7047	10	0.87932	D	0	.	14.4981	0.67702	0.0:0.0:1.0:0.0	.	394;394	F5H2E3;O60890	.;OPHN1_HUMAN	M	394	ENSP00000347710:I394M;ENSP00000438617:I394M	ENSP00000347710:I394M	I	-	3	3	OPHN1	67330476	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.528000	0.81941	2.391000	0.81399	0.600000	0.82982	ATC		0.408	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		C	67413751	G	C	67413751	3	2	596	1	0	0	0	0	1	0	0	0	10877	1280	45	4	1270	4	OPHN1	23	67413751	Missense_Mutation	SNP	G	TCGA-CZ-5465-01A-01D-1806-10	17062993	67413751	87856809	116	32680											
TRMT2B	79979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	100297051	100297051	+	Silent	SNP	T	T	C			TCGA-CZ-5465-01A-01D-1806-10	TCGA-CZ-5465-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	062b7e63-bb4e-4eaa-9aa4-f2af44c2ab37	d0b450b6-994f-4b30-881c-bb9fa4fdc729	g.chrX:100297051T>C	ENST00000372936.3	-	3	1000	c.228A>G	c.(226-228)ctA>ctG	p.L76L	TRMT2B_ENST00000372939.1_Silent_p.L76L|TRMT2B_ENST00000338687.7_Silent_p.L76L|TRMT2B-AS1_ENST00000443801.2_RNA|TRMT2B_ENST00000372931.5_Silent_p.L76L|TRMT2B_ENST00000545398.1_Silent_p.L76L|TRMT2B_ENST00000478422.1_Intron|TRMT2B_ENST00000372935.1_Silent_p.L76L	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	76						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)	p.L76L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AGGAACCATCTAGTGGTCCAA	0.458																																																1	Substitution - coding silent(1)	kidney(1)											158	127	138					X																	100297051		2203	4300	6503	SO:0001819	synonymous_variant	79979			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"chromosome X open reading frame 34"	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.228A>G	X.37:g.100297051T>C			A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Silent	SNP	ENST00000372936.3	37	CCDS14477.1																																																																																				0.458	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		C	100297051	T	C	100297051	2	2	596	1	0	0	0	0	0	0	0	1	16571	1509	53	3		3	TRMT2B	23	100297051	Silent	SNP	T	TCGA-CZ-5465-01A-01D-1806-10	32883300	100297051	54973509	117	32681											
MFSD2A	84879	broad.mit.edu;ucsc.edu	37	1	40435189	40435189	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:40435189C>A	ENST00000372809.5	+	14	1724	c.1581C>A	c.(1579-1581)agC>agA	p.S527R	MFSD2A_ENST00000372811.5_Missense_Mutation_p.S514R|MFSD2A_ENST00000420632.2_Missense_Mutation_p.S358R|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	527					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.S514R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACGAGGCCAGCAGCTCTGGCT	0.602																																																1	Substitution - Missense(1)	kidney(1)											45	43	44					1																	40435189		2203	4300	6503	SO:0001583	missense	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1581C>A	1.37:g.40435189C>A	ENSP00000361895:p.Ser527Arg		A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613971	0.28712	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	.	.	.	5.16	2.08	0.27032	.	0.440276	0.26967	N	0.021583	T	0.22205	0.0535	N	0.08118	0	0.33651	D	0.608424	B;B	0.14012	0.009;0.004	B;B	0.12156	0.004;0.007	T	0.14727	-1.0462	9	0.22109	T	0.4	-15.8634	6.2821	0.21013	0.1468:0.6861:0.0:0.1671	.	527;514	Q8NA29;Q8NA29-2	MFS2A_HUMAN;.	R	514;358;527	.	ENSP00000361895:S527R	S	+	3	2	MFSD2A	40207776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.860000	0.27871	0.688000	0.31529	0.655000	0.94253	AGC		0.602	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		A	40435189	C	A	40435189	3	1	597	1	0	0	0	0	1	0	0	0	9532	709	25	4	1635	4	MFSD2A	1	40435189	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10		40435189	208815432	1	32682											
CDC20	991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43825663	43825663	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:43825663C>T	ENST00000372462.1	+	4	654	c.451C>T	c.(451-453)Ctc>Ttc	p.L151F	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Missense_Mutation_p.L151F			Q12834	CDC20_HUMAN	cell division cycle 20	151					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)	p.L151F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACTGAAAGTACTCTACAGCCA	0.517																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)											1	Substitution - Missense(1)	kidney(1)											146	160	155					1																	43825663		2203	4300	6503	SO:0001583	missense	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.451C>T	1.37:g.43825663C>T	ENSP00000361540:p.Leu151Phe		B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	CCDS484.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887318	0.91814	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.59638	0.25;0.25	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	M	0.80028	2.48	0.80722	D	1	D	0.55605	0.972	P	0.59546	0.859	T	0.75822	-0.3182	10	0.48119	T	0.1	-21.51	20.3312	0.98718	0.0:1.0:0.0:0.0	.	151	Q12834	CDC20_HUMAN	F	127;151;151	ENSP00000308450:L151F;ENSP00000361540:L151F	ENSP00000308450:L151F	L	+	1	0	CDC20	43598250	1.000000	0.71417	0.941000	0.38009	0.993000	0.82548	5.989000	0.70587	2.797000	0.96272	0.655000	0.94253	CTC		0.517	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		T	43825663	C	T	43825663	3	4	597	1	0	0	0	0	1	0	0	0	3061	565	20	2	465	2	CDC20	1	43825663	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	3390474	43825663	205424958	2	32683											
PRKACB	5567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	84679863	84679863	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:84679863G>T	ENST00000370689.2	+	9	1057	c.793G>T	c.(793-795)Gat>Tat	p.D265Y	PRKACB_ENST00000370685.3_Missense_Mutation_p.D312Y|PRKACB_ENST00000370682.3_Missense_Mutation_p.D269Y|PRKACB_ENST00000394838.2_Missense_Mutation_p.D272Y|PRKACB_ENST00000394839.2_Missense_Mutation_p.D235Y	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)	p.D312Y(1)|p.D265Y(1)|p.D272Y(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CTTCAGTTCAGATCTCAAGGA	0.388																																																3	Substitution - Missense(3)	kidney(3)											91	83	85					1																	84679863		2203	4300	6503	SO:0001583	missense	5567			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.793G>T	1.37:g.84679863G>T	ENSP00000359723:p.Asp265Tyr		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368701	0.61624	.	.	ENSG00000142875	ENST00000370689;ENST00000370685;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000394839;ENST00000370681	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045241	0.85682	D	0.000000	T	0.80565	0.4647	M	0.80422	2.495	0.80722	D	1	D;P;P;P;P;P;P;D	0.89917	1.0;0.533;0.879;0.766;0.853;0.717;0.652;1.0	D;B;P;P;P;P;B;D	0.91635	0.999;0.353;0.609;0.765;0.474;0.648;0.353;0.999	T	0.81705	-0.0811	10	0.52906	T	0.07	-22.3081	18.8687	0.92303	0.0:0.0:1.0:0.0	.	265;253;272;235;271;269;312;265	B2RB89;P22694-3;B4DKB0;B1APG4;P22694-6;P22694-7;P22694-2;P22694	.;.;.;.;.;.;.;KAPCB_HUMAN	Y	265;312;272;269;271;235;227	ENSP00000359723:D265Y;ENSP00000359719:D312Y;ENSP00000378314:D272Y;ENSP00000359716:D269Y;ENSP00000378315:D235Y	ENSP00000359713:D271Y	D	+	1	0	PRKACB	84452451	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.751000	0.98889	2.453000	0.82957	0.557000	0.71058	GAT		0.388	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		T	84679863	G	T	84679863	3	4	597	1	0	0	0	0	1	0	0	0	12503	942	33	4	1031	4	PRKACB	1	84679863	Missense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	40854200	84679863	164570758	3	32684											
SLC35A3	23443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100472612	100472612	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:100472612T>C	ENST00000370155.3	+	4	757	c.365T>C	c.(364-366)cTt>cCt	p.L122P	SLC35A3_ENST00000427993.2_Missense_Mutation_p.L122P|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Missense_Mutation_p.L122P|SLC35A3_ENST00000370153.1_Missense_Mutation_p.L164P	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	122					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)	p.L122P(1)		biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTAAAAATTCTTACAACAGCA	0.313																																					Ovarian(7;298 356 944 2149 6911)											1	Substitution - Missense(1)	kidney(1)											71	71	71					1																	100472612		2203	4297	6500	SO:0001583	missense	23443			AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"Solute carriers"	11023	protein-coding gene	gene with protein product		605632	"solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.365T>C	1.37:g.100472612T>C	ENSP00000359174:p.Leu122Pro		A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	CCDS762.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263285	0.80358	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000370153;ENST00000422078	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.31	5.31	0.75309	.	0.062544	0.64402	D	0.000003	T	0.81356	0.4805	M	0.79926	2.475	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.92	D;D;P	0.83275	0.996;0.995;0.678	D	0.83729	0.0197	10	0.54805	T	0.06	-9.4969	15.2546	0.73576	0.0:0.0:0.0:1.0	.	122;163;122	Q9BSB7;Q9Y2D2-2;Q9Y2D2	.;.;S35A3_HUMAN	P	122;122;122;164;122	ENSP00000359174:L122P;ENSP00000418527:L122P;ENSP00000414947:L122P;ENSP00000359172:L164P;ENSP00000401679:L122P	ENSP00000359172:L164P	L	+	2	0	SLC35A3	100245200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.018000	0.59344	0.460000	0.39030	CTT		0.313	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		C	100472612	T	C	100472612	3	2	597	1	0	0	0	0	1	0	0	0	14578	1609	56	3	375	3	SLC35A3	1	100472612	Missense_Mutation	SNP	T	TCGA-CZ-5466-01A-01D-1501-10	15792749	100472612	148778009	4	32685											
HRNR	388697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152191542	152191542	+	Missense_Mutation	SNP	C	C	T	rs202201629		TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:152191542C>T	ENST00000368801.2	-	3	2638	c.2563G>A	c.(2563-2565)Ggc>Agc	p.G855S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	855					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G855S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGTTGGCCGGAGCTTGAT	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22321	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	SER/GLY	0,4406		0,0,2203	138	142	140		2563	-1.6	0	1		140	1,8599	1.2+/-3.3	0,1,4299	no	missense	HRNR	NM_001009931.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	855/2851	152191542	1,13005	2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2563G>A	1.37:g.152191542C>T	ENSP00000357791:p.Gly855Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	8.002	0.755587	0.15846	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.16897	2.31	3.05	-1.6	0.08426	.	.	.	.	.	T	0.02571	0.0078	L	0.43152	1.355	0.09310	N	1	P	0.48162	0.906	B	0.27380	0.079	T	0.45366	-0.9266	9	0.19590	T	0.45	.	7.6618	0.28407	0.0:0.4138:0.0:0.5862	.	855	Q86YZ3	HORN_HUMAN	S	855	ENSP00000357791:G855S	ENSP00000357791:G855S	G	-	1	0	HRNR	150458166	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.677000	0.05215	-0.509000	0.06532	0.505000	0.49811	GGC		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		T	152191542	C	T	152191542	3	4	597	1	0	0	0	0	1	0	0	0	7361	652	23	1	5993	1	HRNR	1	152191542	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	51718930	152191542	97059079	5	32686											
KIF14	9928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200587085	200587085	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:200587085T>C	ENST00000367350.4	-	2	1205	c.767A>G	c.(766-768)cAt>cGt	p.H256R		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	256	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|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)|PDZ domain binding (GO:0030165)	p.H256R(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AATACTTCTATGATACAAGTT	0.373																																																1	Substitution - Missense(1)	kidney(1)											185	188	187					1																	200587085		2203	4300	6503	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.767A>G	1.37:g.200587085T>C	ENSP00000356319:p.His256Arg		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	9.485	1.099208	0.20552	.	.	ENSG00000118193	ENST00000367350	T	0.72282	-0.64	5.04	1.1	0.20463	.	0.739939	0.12570	N	0.457410	T	0.44095	0.1277	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	10	0.06236	T	0.91	.	5.2022	0.15271	0.0:0.154:0.2862:0.5597	.	256	Q15058	KIF14_HUMAN	R	256	ENSP00000356319:H256R	ENSP00000356319:H256R	H	-	2	0	KIF14	198853708	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	-0.047000	0.11963	-0.071000	0.12886	0.477000	0.44152	CAT		0.373	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		C	200587085	T	C	200587085	3	2	597	1	0	0	0	0	1	0	0	0	8278	1464	51	3	4295	3	KIF14	1	200587085	Missense_Mutation	SNP	T	TCGA-CZ-5466-01A-01D-1501-10	48395543	200587085	48663536	6	32687											
KDM5B	10765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202733213	202733213	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:202733213G>A	ENST00000367265.3	-	6	1936	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	KDM5B_ENST00000367264.2_Missense_Mutation_p.R294C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	258					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R258C(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCCATTCGACGTCTCAGATTA	0.308																																																1	Substitution - Missense(1)	kidney(1)											108	99	102					1																	202733213		2203	4300	6503	SO:0001583	missense	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.772C>T	1.37:g.202733213G>A	ENSP00000356234:p.Arg258Cys		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008497	0.93346	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86432	-2.0;-1.8;-2.12	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.71184	0.972;0.836	D	0.92221	0.5784	10	0.54805	T	0.06	-16.842	19.879	0.96888	0.0:0.0:1.0:0.0	.	294;258	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	258;100;294;100	ENSP00000356234:R258C;ENSP00000356233:R294C;ENSP00000235790:R100C	ENSP00000235790:R100C	R	-	1	0	KDM5B	200999836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.099000	0.64554	2.695000	0.91970	0.655000	0.94253	CGT		0.308	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		A	202733213	G	A	202733213	3	1	597	1	0	0	0	0	1	0	0	0	8136	1145	40	1	3950	1	KDM5B	1	202733213	Missense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	2146128	202733213	46517408	7	32688											
NUAK2	81788	broad.mit.edu;ucsc.edu	37	1	205290624	205290624	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:205290624G>A	ENST00000367157.3	-	1	259	c.133C>T	c.(133-135)Cac>Tac	p.H45Y		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.H45Y(2)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGTGCTTGTGGTGGTGCCGC	0.667																																																2	Substitution - Missense(2)	kidney(2)											55	55	55					1																	205290624		2203	4300	6503	SO:0001583	missense	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.133C>T	1.37:g.205290624G>A	ENSP00000356125:p.His45Tyr			Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539675	0.96474	.	.	ENSG00000163545	ENST00000367157	T	0.73575	-0.76	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.000000	0.41605	D	0.000859	T	0.81446	0.4824	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83418	0.0031	10	0.87932	D	0	.	18.8663	0.92293	0.0:0.0:1.0:0.0	.	45	Q9H093	NUAK2_HUMAN	Y	45	ENSP00000356125:H45Y	ENSP00000356125:H45Y	H	-	1	0	NUAK2	203557247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.641000	0.98458	2.545000	0.85829	0.561000	0.74099	CAC		0.667	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		A	205290624	G	A	205290624	3	1	597	1	0	0	0	0	1	0	0	0	10715	1348	47	2	1781	2	NUAK2	1	205290624	Missense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	2557411	205290624	43959997	8	32689											
OR11L1	391189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	248004727	248004727	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:248004727G>T	ENST00000355784.2	-	1	527	c.472C>A	c.(472-474)Ctg>Atg	p.L158M		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	158						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L158M(1)|p.L158L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGGAAGGCAGAAAGCCTGTG	0.582																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											83	82	82					1																	248004727		2203	4300	6503	SO:0001583	missense	391189			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.472C>A	1.37:g.248004727G>T	ENSP00000348033:p.Leu158Met			Missense_Mutation	SNP	ENST00000355784.2	37	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082268	0.20309	.	.	ENSG00000197591	ENST00000355784	T	0.39997	1.05	4.42	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.307323	0.17778	U	0.162355	T	0.40767	0.1130	L	0.45285	1.41	0.09310	N	1	B	0.33299	0.407	B	0.42959	0.403	T	0.35076	-0.9803	10	0.52906	T	0.07	.	8.9814	0.35968	0.0824:0.4128:0.5048:0.0	.	158	Q8NGX0	O11L1_HUMAN	M	158	ENSP00000348033:L158M	ENSP00000348033:L158M	L	-	1	2	OR11L1	246071350	0.000000	0.05858	0.600000	0.28864	0.545000	0.35147	-0.671000	0.05250	0.591000	0.29711	-0.324000	0.08512	CTG		0.582	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		T	248004727	G	T	248004727	3	4	597	1	0	0	0	0	1	0	0	0	10932	933	33	4	500	4	OR11L1	1	248004727	Missense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	42714103	248004727	1245894	9	32690											
RANBP2	5903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109381095	109381095	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr2:109381095C>T	ENST00000283195.6	+	20	4226	c.4100C>T	c.(4099-4101)tCa>tTa	p.S1367L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1367					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1367L(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGAATGCTTCAACTGCTAAG	0.393																																																2	Substitution - Missense(2)	kidney(2)											89	89	89					2																	109381095		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4100C>T	2.37:g.109381095C>T	ENSP00000283195:p.Ser1367Leu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606460	0.46527	.	.	ENSG00000153201	ENST00000283195	T	0.56444	0.46	5.48	5.48	0.80851	Zinc finger, RanBP2-type (4);	.	.	.	.	T	0.38480	0.1042	N	0.14661	0.345	0.23331	N	0.997897	B	0.15141	0.012	B	0.18561	0.022	T	0.24368	-1.0162	9	0.44086	T	0.13	-17.6754	13.6215	0.62140	0.0:0.926:0.0:0.074	.	1367	P49792	RBP2_HUMAN	L	1367	ENSP00000283195:S1367L	ENSP00000283195:S1367L	S	+	2	0	RANBP2	108747527	0.036000	0.19791	0.999000	0.59377	0.969000	0.65631	1.913000	0.39956	2.554000	0.86153	0.655000	0.94253	TCA		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		T	109381095	C	T	109381095	3	4	597	1	0	0	0	0	1	0	0	0	13034	838	29	2	4178	2	RANBP2	2	109381095	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10		109381095	133818278	10	32691											
RANBP2	5903	broad.mit.edu	37	2	109383602	109383603	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr2:109383602_109383603GC>AT	ENST00000283195.6	+	20	6733_6734	c.6607_6608GC>AT	c.(6607-6609)GCg>ATg	p.A2203M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2203					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A2203T(2)|p.A2203V(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGGTACAGGTGCGGCCGGTGCC	0.401																																																4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	Exception_encountered	2.37:g.109383602_109383603delinsAT	ENSP00000283195:p.Ala2203Met		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1																																																																																				0.401	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		AT	109383603	GC	AT	109383602	3	1	597	1	0	0	0	0	1	0	0	0	13034	1319	46	2	6685	2	RANBP2	2	109383602	Missense_Mutation	DNP	GC	TCGA-CZ-5466-01A-01D-1501-10	2507	109383602	133815771	11	32692	244	2									
RANBP2	5903	broad.mit.edu	37	2	109383605	109383605	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr2:109383605G>A	ENST00000283195.6	+	20	6736	c.6610G>A	c.(6610-6612)Gcc>Acc	p.A2204T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2204					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A2204T(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TACAGGTGCGGCCGGTGCCTC	0.398																																																2	Substitution - Missense(2)	kidney(2)											22	26	25					2																	109383605		2090	4220	6310	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6610G>A	2.37:g.109383605G>A	ENSP00000283195:p.Ala2204Thr		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.147204	0.00029	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.26660	1.72	4.9	1.05	0.20165	.	.	.	.	.	T	0.08313	0.0207	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	9	0.09843	T	0.71	0.7876	1.8078	0.03084	0.2377:0.1385:0.481:0.1427	.	2204	P49792	RBP2_HUMAN	T	1228;2204	ENSP00000283195:A2204T	ENSP00000283195:A2204T	A	+	1	0	RANBP2	108750037	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.243000	0.18106	0.006000	0.14734	-0.252000	0.11476	GCC		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		A	109383605	G	A	109383605	3	1	597	1	0	0	0	0	1	0	0	0	13034	1203	42	2	6688	2	RANBP2	2	109383605	Missense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	3	109383605	133815768	12	32693	244	2									
ARL6IP6	151188	hgsc.bcm.edu;ucsc.edu	37	2	153591619	153591620	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr2:153591619_153591620delCT	ENST00000326446.5	+	3	1277_1278	c.566_567delCT	c.(565-567)cctfs	p.P189fs	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	189						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						CCTCCTACTCCTCTTTCACCTG	0.376																																																0																																										SO:0001589	frameshift_variant	151188			AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.566_567delCT	2.37:g.153591621_153591622delCT	ENSP00000315357:p.Pro189fs		B2RDS6|Q7Z4G7	Frame_Shift_Del	DEL	ENST00000326446.5	37	CCDS2197.1																																																																																				0.376	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		-	153591620	CT	-	153591619	7	5	597	1	0	1	0	1	0	0	0	0	945	681	24	0	576	0	ARL6IP6	2	153591619	Frame_Shift_Del	DEL	CT	TCGA-CZ-5466-01A-01D-1501-10	44208014	153591619	89607754	13	32694											
CAV3	859	broad.mit.edu;ucsc.edu	37	3	8787538	8787538	+	Silent	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr3:8787538G>A	ENST00000343849.2	+	2	518	c.441G>A	c.(439-441)ctG>ctA	p.L147L	SSUH2_ENST00000478513.1_5'Flank|CAV3_ENST00000397368.2_Silent_p.L147L|CAV3_ENST00000472766.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	147					actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)	p.L147L(1)		breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						AGGTGGTGCTGCGGAAGGAGG	0.647																																																1	Substitution - coding silent(1)	kidney(1)											84	69	74					3																	8787538		2203	4300	6503	SO:0001819	synonymous_variant	859			AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"M-caveolin"	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.441G>A	3.37:g.8787538G>A			A8K777|Q3T1A4	Silent	SNP	ENST00000343849.2	37	CCDS2569.1																																																																																				0.647	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2	NM_033337		A	8787538	G	A	8787538	2	1	597	1	0	0	0	0	0	0	0	1	2697	1306	46	2		2	CAV3	3	8787538	Silent	SNP	G	TCGA-CZ-5466-01A-01D-1501-10		8787538	189234892	14	32695											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643533	52643533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr3:52643533G>T	ENST00000296302.7	-	16	2364	c.2363C>A	c.(2362-2364)tCa>tAa	p.S788*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S803*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S788*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S788*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S803*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S788*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S788*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.S756*			Q86U86	PB1_HUMAN	polybromo 1	788					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S788*(2)|p.S756*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACTCATGACTGACACAAAAAG	0.458			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											98	92	94					3																	52643533		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2363C>A	3.37:g.52643533G>T	ENSP00000296302:p.Ser788*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	41	8.540142	0.98854	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.4625	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	756;788;788;788;788;788;803;803;788;747	.	ENSP00000296302:S788X	S	-	2	0	PBRM1	52618573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	TCA		0.458	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52643533	G	T	52643533	4	4	597	1	0	0	0	0	0	1	0	0	11493	1294	45	4	2597	4	PBRM1	3	52643533	Nonsense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	43855995	52643533	145378897	15	32696											
PDGFRA	5156	broad.mit.edu;ucsc.edu	37	4	55155210	55155210	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr4:55155210C>G	ENST00000257290.5	+	21	3140	c.2809C>G	c.(2809-2811)Ccg>Gcg	p.P937A	FIP1L1_ENST00000507166.1_Missense_Mutation_p.P697A	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	937	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P937A(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAACAGTGAGCCGGAGAAGAG	0.537			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	1	Substitution - Missense(1)	kidney(1)											156	147	150					4																	55155210		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2809C>G	4.37:g.55155210C>G	ENSP00000257290:p.Pro937Ala		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273055	0.59649	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.92149	-2.98;-2.98	6.07	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.267675	0.19721	U	0.107595	D	0.89093	0.6617	M	0.62088	1.915	0.80722	D	1	P	0.43973	0.823	B	0.31686	0.134	D	0.89360	0.3667	10	0.59425	D	0.04	.	15.3573	0.74437	0.0:0.9329:0.0:0.0671	.	937	P16234	PGFRA_HUMAN	A	697;937	ENSP00000423325:P697A;ENSP00000257290:P937A	ENSP00000423325:P697A	P	+	1	0	FIP1L1;PDGFRA	54849967	1.000000	0.71417	0.994000	0.49952	0.856000	0.48823	6.094000	0.71431	1.594000	0.50039	-0.122000	0.15005	CCG		0.537	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		G	55155210	C	G	55155210	3	3	597	1	0	0	0	0	1	0	0	0	11663	739	26	4	2887	4	PDGFRA	4	55155210	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10		55155210	135999066	16	32697											
CCDC158	339965	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77292666	77292666	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr4:77292666T>G	ENST00000388914.3	-	9	1205	c.1053A>C	c.(1051-1053)ttA>ttC	p.L351F		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	351								p.L351F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGGCAAGGACTAACTGCTTTT	0.383																																																1	Substitution - Missense(1)	kidney(1)											101	91	94					4																	77292666		1843	4090	5933	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1053A>C	4.37:g.77292666T>G	ENSP00000373566:p.Leu351Phe		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579586	0.65992	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	D	0.81739	-1.53	5.76	3.32	0.38043	.	0.000000	0.42821	D	0.000657	T	0.78984	0.4370	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78109	-0.2332	10	0.72032	D	0.01	.	5.7282	0.18024	0.0:0.322:0.0:0.678	.	351	Q5M9N0	CD158_HUMAN	F	351	ENSP00000373566:L351F	ENSP00000316815:L351F	L	-	3	2	CCDC158	77511690	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.359000	0.34113	0.975000	0.38392	-0.426000	0.05927	TTA		0.383	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		G	77292666	T	G	77292666	3	3	597	1	0	0	0	0	1	0	0	0	2792	1519	53	5	2352	5	CCDC158	4	77292666	Missense_Mutation	SNP	T	TCGA-CZ-5466-01A-01D-1501-10	22137456	77292666	113861610	17	32698											
SLC9A3	6550	broad.mit.edu;ucsc.edu	37	5	475720	475720	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:475720A>T	ENST00000264938.3	-	15	2216	c.2207T>A	c.(2206-2208)tTc>tAc	p.F736Y	CTD-2228K2.5_ENST00000510604.1_5'Flank|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.5_ENST00000510714.1_5'Flank|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.5_ENST00000342584.3_5'Flank|SLC9A3_ENST00000514375.1_Missense_Mutation_p.F727Y|CTD-2228K2.7_ENST00000606319.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	736					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.F736Y(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACTAGCCAGGAACTCGATCCC	0.637																																																1	Substitution - Missense(1)	kidney(1)											45	38	40					5																	475720		2158	4211	6369	SO:0001583	missense	6550				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2207T>A	5.37:g.475720A>T	ENSP00000264938:p.Phe736Tyr		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652537	0.29336	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.74106	-0.81;-0.81	4.64	4.64	0.57946	.	0.428594	0.25439	N	0.030677	T	0.69726	0.3143	L	0.56769	1.78	0.26509	N	0.974637	B;B	0.17465	0.007;0.022	B;B	0.15052	0.012;0.011	T	0.62358	-0.6871	10	0.41790	T	0.15	.	12.5759	0.56363	1.0:0.0:0.0:0.0	.	727;736	E9PF67;P48764	.;SL9A3_HUMAN	Y	736;727	ENSP00000264938:F736Y;ENSP00000422983:F727Y	ENSP00000264938:F736Y	F	-	2	0	SLC9A3	528720	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	1.962000	0.40442	1.858000	0.53909	0.379000	0.24179	TTC		0.637	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		T	475720	A	T	475720	3	4	597	1	0	0	0	0	1	0	0	0	14719	246	9	5	309	5	SLC9A3	5	475720	Missense_Mutation	SNP	A	TCGA-CZ-5466-01A-01D-1501-10		475720	180439540	18	32699											
APC	324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112178912	112178912	+	Missense_Mutation	SNP	A	A	G	rs587778033		TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:112178912A>G	ENST00000457016.1	+	16	8001	c.7621A>G	c.(7621-7623)Atc>Gtc	p.I2541V	APC_ENST00000257430.4_Missense_Mutation_p.I2541V|APC_ENST00000508376.2_Missense_Mutation_p.I2541V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2541	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.I2541V(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAGACTTCCAATCAATAGGTC	0.443		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Substitution - Missense(1)|Unknown(1)	kidney(1)|skin(1)	GRCh37	CM080039	APC	M							86	83	84					5																	112178912		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7621A>G	5.37:g.112178912A>G	ENSP00000413133:p.Ile2541Val		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	0.219	-1.029824	0.02045	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.81659	-1.52;-1.52;-1.52	6.07	0.874	0.19124	Adenomatous polyposis coli protein basic domain (1);	0.325734	0.36665	N	0.002463	T	0.63757	0.2538	N	0.21142	0.635	0.41527	D	0.988434	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.49184	-0.8966	9	.	.	.	-3.3006	9.7758	0.40618	0.7249:0.0:0.2751:0.0	.	2543;2541	Q4LE70;P25054	.;APC_HUMAN	V	2541	ENSP00000413133:I2541V;ENSP00000257430:I2541V;ENSP00000427089:I2541V	.	I	+	1	0	APC	112206811	0.958000	0.32768	0.957000	0.39632	0.891000	0.51852	1.816000	0.38992	0.158000	0.19367	0.533000	0.62120	ATC		0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		G	112178912	A	G	112178912	3	3	597	1	0	0	0	0	1	0	0	0	763	101	4	3	7679	3	APC	5	112178912	Missense_Mutation	SNP	A	TCGA-CZ-5466-01A-01D-1501-10	111703192	112178912	68736348	19	32700											
APBB3	10307	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139942267	139942267	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:139942267C>T	ENST00000357560.4	-	4	775	c.332G>A	c.(331-333)aGc>aAc	p.S111N	APBB3_ENST00000356738.2_Missense_Mutation_p.S111N|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000508496.2_Intron|APBB3_ENST00000511201.2_Missense_Mutation_p.S111N|APBB3_ENST00000354402.5_Missense_Mutation_p.S111N|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000358580.5_Missense_Mutation_p.S111N|APBB3_ENST00000412920.3_Missense_Mutation_p.S111N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	111						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S111N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTCCATGCTCTGGATGTA	0.532																																																1	Substitution - Missense(1)	kidney(1)											106	88	94					5																	139942267		2203	4300	6503	SO:0001583	missense	10307			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.332G>A	5.37:g.139942267C>T	ENSP00000350171:p.Ser111Asn		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.909016	0.02434	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.95;1.95	5.44	2.21	0.28008	.	0.592340	0.18904	N	0.127946	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.28776	-1.0033	9	.	.	.	-3.1243	8.9815	0.35968	0.1108:0.6755:0.0:0.2136	.	111;111	O95704-2;O95704-3	.;.	N	111	ENSP00000351389:S111N;ENSP00000349177:S111N;ENSP00000346378:S111N;ENSP00000350171:S111N;ENSP00000402591:S111N;ENSP00000424317:S111N	.	S	-	2	0	APBB3	139922451	0.022000	0.18835	0.959000	0.39883	0.888000	0.51559	0.166000	0.16583	0.279000	0.22186	-0.797000	0.03246	AGC		0.532	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		T	139942267	C	T	139942267	3	4	597	1	0	0	0	0	1	0	0	0	762	797	28	2	1185	2	APBB3	5	139942267	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	27763355	139942267	40972993	20	32701											
PCDHB1	29930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140432455	140432455	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:140432455C>T	ENST00000306549.3	+	1	1477	c.1400C>T	c.(1399-1401)cCt>cTt	p.P467L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	467	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)	p.P467L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAACAGTCCTGCGGTTTTT	0.413																																																1	Substitution - Missense(1)	kidney(1)											72	70	71					5																	140432455		2203	4300	6503	SO:0001583	missense	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1400C>T	5.37:g.140432455C>T	ENSP00000307234:p.Pro467Leu		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288721	0.59976	.	.	ENSG00000171815	ENST00000306549	T	0.01685	4.69	6.17	6.17	0.99709	Cadherin (3);Cadherin-like (1);	0.000000	0.44483	D	0.000451	T	0.10680	0.0261	M	0.78223	2.4	0.50171	D	0.999853	D	0.56968	0.978	P	0.60012	0.867	T	0.00015	-1.2399	10	0.66056	D	0.02	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	467	Q9Y5F3	PCDB1_HUMAN	L	467	ENSP00000307234:P467L	ENSP00000307234:P467L	P	+	2	0	PCDHB1	140412639	0.001000	0.12720	1.000000	0.80357	0.888000	0.51559	1.439000	0.35013	2.941000	0.99782	0.655000	0.94253	CCT		0.413	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		T	140432455	C	T	140432455	3	4	597	1	0	0	0	0	1	0	0	0	11536	681	24	2	1402	2	PCDHB1	5	140432455	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	490188	140432455	40482805	21	32702											
DOCK2	1794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	169474616	169474616	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:169474616C>T	ENST00000256935.8	+	40	4149	c.4069C>T	c.(4069-4071)Cgg>Tgg	p.R1357W	DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R849W	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1357W(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTTCCTGCGGGTGAGTTT	0.542																																																1	Substitution - Missense(1)	kidney(1)											68	68	68					5																	169474616		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4069C>T	5.37:g.169474616C>T	ENSP00000256935:p.Arg1357Trp		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983404	0.74474	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.12465	3.34;2.96;2.68	5.21	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.92507	3.315	0.41599	D	0.988849	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.60811	-0.7189	10	0.87932	D	0	.	14.8729	0.70471	0.1947:0.8053:0.0:0.0	.	849;1357	E7ERW7;Q92608	.;DOCK2_HUMAN	W	1357;849;418	ENSP00000256935:R1357W;ENSP00000429283:R849W;ENSP00000438827:R418W	ENSP00000256935:R1357W	R	+	1	2	DOCK2	169407194	0.901000	0.30685	1.000000	0.80357	0.859000	0.49053	1.258000	0.32944	2.419000	0.82065	0.561000	0.74099	CGG		0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		T	169474616	C	T	169474616	3	4	597	1	0	0	0	0	1	0	0	0	4689	759	27	1	4227	1	DOCK2	5	169474616	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	29042161	169474616	11440644	22	32703											
DBN1	1627	broad.mit.edu;ucsc.edu	37	5	176894265	176894265	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:176894265C>A	ENST00000309007.5	-	6	765	c.546G>T	c.(544-546)gaG>gaT	p.E182D	DBN1_ENST00000292385.5_Missense_Mutation_p.E184D|DBN1_ENST00000393565.1_Missense_Mutation_p.E182D	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	182					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.E182D(1)|p.E184D(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTGGCCTGCTCCCAGAACT	0.612																																																2	Substitution - Missense(2)	kidney(2)											259	274	269					5																	176894265		2203	4300	6503	SO:0001583	missense	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.546G>T	5.37:g.176894265C>A	ENSP00000308532:p.Glu182Asp		A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806502	0.70682	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.42513	0.97;0.97;1.57	5.06	2.36	0.29203	.	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.996;0.998;0.999;0.999	D;D;D;D	0.81914	0.987;0.99;0.985;0.995	T	0.47195	-0.9136	10	0.41790	T	0.15	-21.079	8.2296	0.31590	0.0:0.6248:0.0:0.3752	.	132;182;182;184	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	D	182;184;182;181	ENSP00000308532:E182D;ENSP00000292385:E184D;ENSP00000377195:E182D	ENSP00000292385:E184D	E	-	3	2	DBN1	176826871	0.597000	0.26874	1.000000	0.80357	0.978000	0.69477	-0.177000	0.09796	0.337000	0.23665	0.561000	0.74099	GAG		0.612	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		A	176894265	C	A	176894265	3	1	597	1	0	0	0	0	1	0	0	0	4254	796	28	4	1439	4	DBN1	5	176894265	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	7419649	176894265	4020995	23	32704											
SLC22A7	10864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43272449	43272449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr6:43272449C>T	ENST00000372585.5	+	11	1728	c.1633C>T	c.(1633-1635)Cag>Tag	p.Q545*	SLC22A7_ENST00000372589.3_Nonsense_Mutation_p.Q543*|ZNF318_ENST00000607252.1_5'Flank	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	545					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.Q545*(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCCCATGAAGCAGGTCCAGAA	0.607																																																1	Substitution - Nonsense(1)	kidney(1)											98	80	86					6																	43272449		2203	4300	6503	SO:0001587	stop_gained	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1633C>T	6.37:g.43272449C>T	ENSP00000361666:p.Gln545*		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Nonsense_Mutation	SNP	ENST00000372585.5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	34	5.349305	0.95830	.	.	ENSG00000137204	ENST00000372589;ENST00000372585	.	.	.	4.9	2.96	0.34315	.	1.463580	0.04774	U	0.428514	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	7.6304	0.28236	0.0:0.7376:0.1656:0.0969	.	.	.	.	X	543;545	.	ENSP00000361666:Q545X	Q	+	1	0	SLC22A7	43380427	0.907000	0.30839	0.996000	0.52242	0.992000	0.81027	0.500000	0.22562	1.147000	0.42369	0.561000	0.74099	CAG		0.607	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			T	43272449	C	T	43272449	4	4	597	1	0	0	0	0	0	1	0	0	14465	711	25	2	1671	2	SLC22A7	6	43272449	Nonsense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10		43272449	127842618	24	32705											
KIAA1009	22832	hgsc.bcm.edu	37	6	84896316	84896316	+	Missense_Mutation	SNP	C	C	T	rs199518175|rs202045843	byFrequency	TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr6:84896316C>T	ENST00000403245.3	-	12	1249	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E303K	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AATTCAGTTTCTTTTCTTTCG	0.343																																																0													66	71	70					6																	84896316		2201	4290	6491	SO:0001583	missense	22832																														ENST00000403245.3:c.1135G>A	6.37:g.84896316C>T	ENSP00000385215:p.Glu379Lys			Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634736	0.29068	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.14766	2.48;2.48	5.41	4.47	0.54385	.	0.722985	0.13756	N	0.364968	T	0.04724	0.0128	L	0.38838	1.175	0.26234	N	0.978968	B;P	0.46142	0.023;0.873	B;B	0.42361	0.011;0.385	T	0.26677	-1.0096	10	0.29301	T	0.29	-7.0872	6.6893	0.23161	0.0:0.8408:0.0:0.1592	.	379;379	Q5TB80;C9JFM9	QN1_HUMAN;.	K	303;379	ENSP00000257766:E303K;ENSP00000385215:E379K	ENSP00000257766:E303K	E	-	1	0	KIAA1009	84953035	0.953000	0.32496	0.981000	0.43875	0.776000	0.43924	1.075000	0.30716	2.812000	0.96745	0.557000	0.71058	GAA		0.343	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			T	84896316	C	T	84896316	3	4	597	1	0	0	0	0	1	0	0	0	8205	922	32	2	3140	2	KIAA1009	6	84896316	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	41623867	84896316	86218751	25	32706											
MDN1	23195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90358035	90358035	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr6:90358035G>C	ENST00000369393.3	-	98	16335	c.16220C>G	c.(16219-16221)tCt>tGt	p.S5407C	MDN1_ENST00000428876.1_Missense_Mutation_p.S5407C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5407	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.S5407C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACAGCCAAAGATTCAAATGC	0.373																																																1	Substitution - Missense(1)	kidney(1)											91	89	90					6																	90358035		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16220C>G	6.37:g.90358035G>C	ENSP00000358400:p.Ser5407Cys		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006689	0.54361	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.22743	1.94;1.94	6.17	6.17	0.99709	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.85041	2.73	0.54753	D	0.999988	D	0.89917	1.0	D	0.71184	0.972	T	0.50625	-0.8806	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5407	Q9NU22	MDN1_HUMAN	C	5407	ENSP00000358400:S5407C;ENSP00000413970:S5407C	ENSP00000358400:S5407C	S	-	2	0	MDN1	90414756	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.035000	0.93752	2.941000	0.99782	0.655000	0.94253	TCT		0.373	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			C	90358035	G	C	90358035	3	2	597	1	0	0	0	0	1	0	0	0	9417	942	33	4	590	4	MDN1	6	90358035	Missense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	5461719	90358035	80757032	26	32707											
ZUFSP	221302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	116981933	116981933	+	Silent	SNP	A	A	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr6:116981933A>C	ENST00000368576.3	-	3	879	c.636T>G	c.(634-636)gtT>gtG	p.V212V	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Silent_p.V212V	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	212							metal ion binding (GO:0046872)	p.V212V(1)		NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AATGCAAGTCAACATGTTCCT	0.313																																																1	Substitution - coding silent(1)	kidney(1)											81	71	74					6																	116981933		2203	4300	6503	SO:0001819	synonymous_variant	221302			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"Zinc fingers, C2H2-type"	21224	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 113"	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.636T>G	6.37:g.116981933A>C			Q5TD92|Q6PJH7|Q96NV6	Silent	SNP	ENST00000368576.3	37	CCDS5110.1																																																																																				0.313	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		C	116981933	A	C	116981933	2	2	597	1	0	0	0	0	0	0	0	1	18251	117	5	5		5	ZUFSP	6	116981933	Silent	SNP	A	TCGA-CZ-5466-01A-01D-1501-10	26623898	116981933	54133134	27	32708											
TNFAIP3	7128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	138201233	138201233	+	Silent	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr6:138201233C>T	ENST00000237289.4	+	8	1998	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	644	Interaction with TNIP1. {ECO:0000250}.|Required for proteosomal degradation of UBE2N and UBE2D3, TRAF6 deubiquitination, and TAX1BP1 interaction with UBE2N. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.V644V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CAGGGAAAGTCAGTCCCACAG	0.517			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	26	Whole gene deletion(25)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(25)|kidney(1)											87	73	78					6																	138201233		2203	4300	6503	SO:0001819	synonymous_variant	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1932C>T	6.37:g.138201233C>T			B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822675	0.16678	.	.	ENSG00000118503	ENST00000544646	.	.	.	6.08	0.983	0.19767	.	.	.	.	.	.	.	.	.	.	.	0.21147	N	0.999774	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.5794	1.8132	0.03095	0.1342:0.4039:0.1318:0.33	.	.	.	.	X	644	.	ENSP00000442207:Q644X	Q	+	1	0	TNFAIP3	138242926	.	.	0.594000	0.28785	0.845000	0.48019	.	.	0.234000	0.21139	0.655000	0.94253	CAG		0.517	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			T	138201233	C	T	138201233	2	4	597	1	0	0	0	0	0	0	0	1	16279	813	29	2		2	TNFAIP3	6	138201233	Silent	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	21219300	138201233	32913834	28	32709											
SUN1	23353	broad.mit.edu;ucsc.edu	37	7	905604	905604	+	Missense_Mutation	SNP	G	G	T	rs373401176		TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr7:905604G>T	ENST00000405266.1	+	17	2015	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I	SUN1_ENST00000456758.2_Missense_Mutation_p.S816I|SUN1_ENST00000452783.2_Missense_Mutation_p.S524I|SUN1_ENST00000389574.3_Missense_Mutation_p.S544I|SUN1_ENST00000413514.2_Missense_Mutation_p.S425I|SUN1_ENST00000425407.2_Missense_Mutation_p.S544I|SUN1_ENST00000401592.1_Missense_Mutation_p.S627I			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	654	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.S544I(1)|p.S627I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCATCTTGAGTACTCGCTGT	0.488																																																2	Substitution - Missense(2)	kidney(2)											101	103	103					7																	905604		2022	4186	6208	SO:0001583	missense	23353			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1991G>T	7.37:g.905604G>T	ENSP00000384116:p.Ser664Ile		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.541533|4.541533	0.85917|0.85917	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.34472	.|1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	4.94|4.94	4.94|4.94	0.65067|0.65067	.|Sad1/UNC-like, C-terminal (1);	.|0.212725	.|0.64402	.|D	.|0.000012	T|T	0.68421|0.68421	0.2999|0.2999	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.998;0.994;1.0;0.999;0.999;1.0	.|D;P;D;D;D;D	.|0.83275	.|0.945;0.906;0.996;0.97;0.993;0.99	T|T	0.77016|0.77016	-0.2744|-0.2744	5|10	.|0.87932	.|D	.|0	-29.0305|-29.0305	18.1718|18.1718	0.89747|0.89747	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|425;524;627;816;654;544	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	D|I	475|816;544;524;664;627;654;544;552;425	.|ENSP00000388743:S816I;ENSP00000374225:S544I;ENSP00000413439:S524I;ENSP00000384116:S664I;ENSP00000384015:S627I;ENSP00000392309:S544I;ENSP00000409909:S552I;ENSP00000389313:S425I	.|ENSP00000297445:S654I	E|S	+|+	3|2	2|0	SUN1|SUN1	872130|872130	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.906000|0.906000	0.53458|0.53458	9.475000|9.475000	0.97721|0.97721	2.293000|2.293000	0.77203|0.77203	0.655000|0.655000	0.94253|0.94253	GAG|AGT		0.488	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		T	905604	G	T	905604	3	4	597	1	0	0	0	0	1	0	0	0	15396	1029	36	4	2125	4	SUN1	7	905604	Missense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10		905604	158233059	29	32710											
RABGEF1	27342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	66260561	66260561	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr7:66260561A>T	ENST00000284957.5	+	5	654	c.577A>T	c.(577-579)Atg>Ttg	p.M193L	KCTD7_ENST00000510829.2_Missense_Mutation_p.M193L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.M193L|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.M206L|KCTD7_ENST00000380828.2_Missense_Mutation_p.M233L|KCTD7_ENST00000451741.2_Missense_Mutation_p.M193L|RABGEF1_ENST00000437078.2_Missense_Mutation_p.M207L			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	371	Interaction with ubiquitinated proteins.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.M193L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GGCCGAAAGGATGCAAACTCG	0.453																																																1	Substitution - Missense(1)	kidney(1)											165	142	150					7																	66260561		2203	4300	6503	SO:0001583	missense	27342			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.577A>T	7.37:g.66260561A>T	ENSP00000284957:p.Met193Leu		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	3.831	-0.035696	0.07497	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92	6.14	2.53	0.30540	.	0.143315	0.64402	N	0.000005	T	0.04497	0.0123	N	0.00436	-1.5	0.30711	N	0.749237	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.20306	-1.0279	10	0.08599	T	0.76	-13.1662	1.4547	0.02383	0.3808:0.2212:0.0778:0.3202	.	207;27;371	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	L	238;233;193;193;193;193;206;207	ENSP00000370208:M233L;ENSP00000421124:M193L;ENSP00000398177:M193L;ENSP00000284957:M193L;ENSP00000415815:M193L;ENSP00000403429:M206L;ENSP00000390480:M207L	ENSP00000370207:M238L	M	+	1	0	RABGEF1;KCTD7	65897996	0.997000	0.39634	0.999000	0.59377	0.862000	0.49288	1.070000	0.30653	0.529000	0.28599	0.529000	0.55759	ATG		0.453	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		T	66260561	A	T	66260561	3	4	597	1	0	0	0	0	1	0	0	0	12972	333	12	5	591	5	RABGEF1	7	66260561	Missense_Mutation	SNP	A	TCGA-CZ-5466-01A-01D-1501-10	65354957	66260561	92878102	30	32711											
AHCYL2	23382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129045730	129045730	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr7:129045730G>A	ENST00000325006.3	+	9	1250	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	AHCYL2_ENST00000531335.2_Missense_Mutation_p.G318D|AHCYL2_ENST00000474594.1_Missense_Mutation_p.G296D|AHCYL2_ENST00000446212.1_Missense_Mutation_p.G297D|RNU7-16P_ENST00000516471.1_RNA|AHCYL2_ENST00000490911.1_Missense_Mutation_p.G296D|AHCYL2_ENST00000446544.2_Missense_Mutation_p.G398D	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	399					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.G399D(1)|p.G296D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GTAGTCTGTGGCTATGGAGAG	0.318																																					Pancreas(160;1736 1964 29875 40941 45605)											2	Substitution - Missense(2)	kidney(2)											186	191	189					7																	129045730		2203	4300	6503	SO:0001583	missense	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1196G>A	7.37:g.129045730G>A	ENSP00000315931:p.Gly399Asp		B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.851382|4.851382	0.91355|0.91355	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|D;D;D;D;D;D	.|0.94862	.|-2.99;-2.99;-3.54;-3.48;-3.51;-3.49	5.83|5.83	5.83|5.83	0.93111|0.93111	.|S-adenosyl-L-homocysteine hydrolase, conserved site (1);S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.100111	.|0.64402	.|D	.|0.000001	D|D	0.98654|0.98654	0.9549|0.9549	H|H	0.99130|0.99130	4.44|4.44	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.993;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.99;1.0;0.996;1.0;0.994	D|D	0.99478|0.99478	1.0947|1.0947	5|10	.|0.87932	.|D	.|0	-17.6876|-17.6876	17.6122|17.6122	0.88056|0.88056	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|296;297;399;296;398	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	T|D	306|399;398;318;296;297;296	.|ENSP00000315931:G399D;ENSP00000413639:G398D;ENSP00000431787:G318D;ENSP00000420459:G296D;ENSP00000405267:G297D;ENSP00000420801:G296D	.|ENSP00000315931:G399D	A|G	+|+	1|2	0|0	AHCYL2|AHCYL2	128832966|128832966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.478000|9.478000	0.97927|0.97927	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	GCT|GGC		0.318	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			A	129045730	G	A	129045730	3	1	597	1	0	0	0	0	1	0	0	0	411	1203	42	2	1352	2	AHCYL2	7	129045730	Missense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	62785169	129045730	30092933	31	32712											
RECK	8434	hgsc.bcm.edu;ucsc.edu	37	9	36091316	36091317	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr9:36091316_36091317insT	ENST00000377966.3	+	10	1627_1628	c.1061_1062insT	c.(1060-1065)acttacfs	p.Y355fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	355					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AGAAACCTTACTTACTGTACTA	0.342																																																0																																										SO:0001589	frameshift_variant	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1063dupT	9.37:g.36091318_36091318dupT	ENSP00000367202:p.Tyr355fs		B2RNS1|Q5W0K6|Q8WX37	Frame_Shift_Ins	INS	ENST00000377966.3	37	CCDS6597.1																																																																																				0.342	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			T	36091317	-	T	36091316	7	5	597	1	0	1	1	0	0	0	0	0	13206	565	20	0	1099	0	RECK	9	36091316	Frame_Shift_Ins	INS	-	TCGA-CZ-5466-01A-01D-1501-10		36091316	105122115	32	32713											
C11orf41	25758	broad.mit.edu;ucsc.edu	37	11	33628343	33628343	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:33628343A>G	ENST00000321505.4	+	13	4325	c.4145A>G	c.(4144-4146)gAg>gGg	p.E1382G	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1388G			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1382						integral component of membrane (GO:0016021)		p.E1382G(1)									AGGAGCCAGGAGTCATCGGCA	0.597																																																1	Substitution - Missense(1)	kidney(1)											24	27	26					11																	33628343		2052	4201	6253	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4145A>G	11.37:g.33628343A>G	ENSP00000315295:p.Glu1382Gly		B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.659245|4.659245	0.88154|0.88154	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.096845|.	0.64402|.	D|.	0.000001|.	T|T	0.57095|0.57095	0.2030|0.2030	L|L	0.34521|0.34521	1.04|1.04	0.44711|0.44711	D|D	0.9977|0.9977	D|.	0.71674|.	0.998|.	D|.	0.71184|.	0.972|.	T|T	0.54029|0.54029	-0.8354|-0.8354	9|5	0.87932|.	D|.	0|.	.|.	15.4844|15.4844	0.75555|0.75555	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1388|.	E9PAT2|.	.|.	G|G	1382;1388;1221|780	.|.	ENSP00000315295:E1382G|.	E|S	+|+	2|1	0|0	C11orf41|C11orf41	33584919|33584919	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.799000|0.799000	0.45148|0.45148	8.129000|8.129000	0.89597|0.89597	2.065000|2.065000	0.61736|0.61736	0.459000|0.459000	0.35465|0.35465	GAG|AGT		0.597	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		G	33628343	A	G	33628343	3	3	597	1	0	0	0	0	1	0	0	0	1642	304	11	3	4213	3	C11orf41	11	33628343	Missense_Mutation	SNP	A	TCGA-CZ-5466-01A-01D-1501-10		33628343	101378173	33	32714											
AGBL2	79841	broad.mit.edu;ucsc.edu	37	11	47713657	47713657	+	Silent	SNP	T	T	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:47713657T>C	ENST00000525123.1	-	9	1131	c.846A>G	c.(844-846)agA>agG	p.R282R	AGBL2_ENST00000298861.4_Silent_p.R282R|AGBL2_ENST00000528244.1_Silent_p.R244R|AGBL2_ENST00000357610.3_Silent_p.R282R|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	282						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R282R(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTACTCACACTCTGACAGCTT	0.383																																																1	Substitution - coding silent(1)	kidney(1)											165	148	154					11																	47713657		2201	4298	6499	SO:0001819	synonymous_variant	79841				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.846A>G	11.37:g.47713657T>C			A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Silent	SNP	ENST00000525123.1	37	CCDS7944.1																																																																																				0.383	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		C	47713657	T	C	47713657	2	2	597	1	0	0	0	0	0	0	0	1	376	1548	54	3		3	AGBL2	11	47713657	Silent	SNP	T	TCGA-CZ-5466-01A-01D-1501-10	14085314	47713657	87292859	34	32715											
SLC22A9	114571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63175623	63175623	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:63175623T>A	ENST00000279178.3	+	8	1577	c.1328T>A	c.(1327-1329)tTa>tAa	p.L443*	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	443					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L443*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACACTGGGCTTAGGAGCGTCT	0.483																																																1	Substitution - Nonsense(1)	kidney(1)											107	99	102					11																	63175623		2201	4298	6499	SO:0001587	stop_gained	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1328T>A	11.37:g.63175623T>A	ENSP00000279178:p.Leu443*		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Nonsense_Mutation	SNP	ENST00000279178.3	37	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868843	0.72065	.	.	ENSG00000149742	ENST00000279178	.	.	.	1.65	-0.796	0.10912	.	0.733227	0.12775	N	0.440190	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	4.2353	0.10623	0.0:0.4162:0.0:0.5838	.	.	.	.	X	443	.	ENSP00000279178:L443X	L	+	2	0	SLC22A9	62932199	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-0.527000	0.06200	-0.238000	0.09724	0.172000	0.16884	TTA		0.483	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		A	63175623	T	A	63175623	4	1	597	1	0	0	0	0	0	1	0	0	14467	1764	61	5	1358	5	SLC22A9	11	63175623	Nonsense_Mutation	SNP	T	TCGA-CZ-5466-01A-01D-1501-10	15461966	63175623	71830893	35	32716											
TMEM25	84866	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118404209	118404209	+	Missense_Mutation	SNP	G	G	T	rs201359918		TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:118404209G>T	ENST00000313236.5	+	5	801	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L	RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000354064.7_Intron|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000544878.1_Missense_Mutation_p.V153L|TMEM25_ENST00000533102.1_Missense_Mutation_p.V250L|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000354284.4_Missense_Mutation_p.V250L|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000411589.2_Intron|TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000524725.1_Intron|TMEM25_ENST00000359862.4_Intron	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	250						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V250L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GGGCACCCTCGTGGGGTTCAG	0.607																																																1	Substitution - Missense(1)	kidney(1)											64	65	65					11																	118404209		2200	4295	6495	SO:0001583	missense	84866			AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"Immunoglobulin superfamily / C2-set domain containing"	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.748G>T	11.37:g.118404209G>T	ENSP00000315635:p.Val250Leu		A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.894285|1.894285	0.33442|0.33442	.|.	.|.	ENSG00000149582|ENSG00000149582	ENST00000526853|ENST00000528373;ENST00000544878;ENST00000354284;ENST00000533102;ENST00000313236	.|T;T;T;T;T	.|0.29142	.|1.58;1.78;2.52;2.43;2.55	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.138090	.|0.49916	.|D	.|0.000121	T|T	0.13543|0.13543	0.0328|0.0328	N|N	0.04880|0.04880	-0.145|-0.145	0.35688|0.35688	D|D	0.814654|0.814654	.|B;B;B;B;B	.|0.27594	.|0.118;0.01;0.026;0.044;0.182	.|B;B;B;B;B	.|0.19148	.|0.024;0.007;0.011;0.024;0.019	T|T	0.13229|0.13229	-1.0517|-1.0517	5|10	.|0.06099	.|T	.|0.92	-13.3667|-13.3667	14.3478|14.3478	0.66678|0.66678	0.0:0.1482:0.8518:0.0|0.0:0.1482:0.8518:0.0	.|.	.|153;250;250;250;250	.|F5H294;Q86YD3;B7Z4E4;Q86YD3-4;E9PKP3	.|.;TMM25_HUMAN;.;.;.	L|L	84|153;153;250;250;250	.|ENSP00000432040:V153L;ENSP00000439408:V153L;ENSP00000346237:V250L;ENSP00000431548:V250L;ENSP00000315635:V250L	.|ENSP00000315635:V250L	R|V	+|+	2|1	0|0	TMEM25|TMEM25	117909419|117909419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.075000|4.075000	0.57584|0.57584	2.769000|2.769000	0.95229|0.95229	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.607	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780		T	118404209	G	T	118404209	3	4	597	1	0	0	0	0	1	0	0	0	16155	1145	40	4	762	4	TMEM25	11	118404209	Missense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	55228586	118404209	16602307	36	32717											
HSPA8	3312	broad.mit.edu	37	11	122930276	122930276	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:122930276C>G	ENST00000532636.1	-	5	1144	c.1025G>C	c.(1024-1026)cGt>cCt	p.R342P	SNORD14C_ENST00000365382.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.R342P|HSPA8_ENST00000534624.1_Missense_Mutation_p.R342P|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.R342P|HSPA8_ENST00000533540.1_Missense_Mutation_p.R196P|HSPA8_ENST00000526110.1_Missense_Mutation_p.R323P|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.R106P			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	342	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.R342P(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTGGGGATACGAGTAGAACC	0.463																																					Colon(21;486 594 5900 6733 14272)											1	Substitution - Missense(1)	kidney(1)											78	79	79					11																	122930276		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1025G>C	11.37:g.122930276C>G	ENSP00000437125:p.Arg342Pro		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439541	0.83885	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0;4.0;4.0	4.65	4.65	0.58169	Heat shock protein 70, conserved site (1);	0.057981	0.64402	D	0.000007	T	0.41213	0.1149	H	0.99968	5.105	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.989;1.0	D;P;P;D	0.79784	0.993;0.686;0.559;0.993	T	0.73563	-0.3943	10	0.87932	D	0	-7.1891	17.9506	0.89052	0.0:1.0:0.0:0.0	.	342;342;342;342	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	P	342;196;342;342;342;106;323;282	ENSP00000437125:R342P;ENSP00000437189:R196P;ENSP00000432083:R342P;ENSP00000404372:R342P;ENSP00000227378:R342P;ENSP00000433316:R106P;ENSP00000433584:R323P;ENSP00000432884:R282P	ENSP00000227378:R342P	R	-	2	0	HSPA8	122435486	1.000000	0.71417	0.397000	0.26308	0.957000	0.61999	7.683000	0.84093	2.308000	0.77769	0.556000	0.70494	CGT		0.463	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			G	122930276	C	G	122930276	3	3	597	1	0	0	0	0	1	0	0	0	7418	536	19	4	935	4	HSPA8	11	122930276	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	4526067	122930276	12076240	37	32718											
ZBTB44	29068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	130131008	130131008	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:130131008A>T	ENST00000357899.4	-	2	1033	c.761T>A	c.(760-762)tTa>tAa	p.L254*	ZBTB44_ENST00000397753.1_Nonsense_Mutation_p.L254*|ZBTB44_ENST00000530205.1_Nonsense_Mutation_p.L254*|ZBTB44_ENST00000525842.1_Nonsense_Mutation_p.L254*			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L254*(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		AGGTAATTCTAAAGTCCGGGT	0.433																																																1	Substitution - Nonsense(1)	kidney(1)											76	73	74					11																	130131008		1853	4085	5938	SO:0001587	stop_gained	29068			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.761T>A	11.37:g.130131008A>T	ENSP00000350574:p.Leu254*		Q6IPT8|Q86VJ7|Q86XX5	Nonsense_Mutation	SNP	ENST00000357899.4	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	32|32|32	5.132879|5.132879|5.132879	0.94517|0.94517|0.94517	.|.|.	.|.|.	ENSG00000196323|ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205;ENST00000338191|ENST00000529982	.|.|.	.|.|.	.|.|.	5.58|5.58|5.58	4.45|4.45|4.45	0.53987|0.53987|0.53987	.|.|.	.|0.245282|.	.|0.35495|.	.|N|.	.|0.003165|.	T|.|.	0.56093|.|.	0.1962|.|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|.	0.64605|.|.	-0.6368|.|.	3|.|.	.|0.02654|.	.|T|.	.|1|.	.|.|.	11.292|11.292|11.292	0.49256|0.49256|0.49256	0.9286:0.0:0.0714:0.0|0.9286:0.0:0.0714:0.0|0.9286:0.0:0.0714:0.0	.|.|.	.|.|.	.|.|.	.|.|.	L|X|K	250|254;254;254;254;254;166|108	.|.|.	.|ENSP00000341618:L166X|.	F|L|X	-|-|-	3|2|1	2|0|0	ZBTB44|ZBTB44|ZBTB44	129636218|129636218|129636218	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	6.620000|6.620000|6.620000	0.74224|0.74224|0.74224	0.949000|0.949000|0.949000	0.37715|0.37715|0.37715	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	TTT|TTA|TAG		0.433	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		T	130131008	A	T	130131008	4	4	597	1	0	0	0	0	0	1	0	0	17550	372	13	5	620	5	ZBTB44	11	130131008	Nonsense_Mutation	SNP	A	TCGA-CZ-5466-01A-01D-1501-10	7200732	130131008	4875508	38	32719											
CLSTN3	9746	broad.mit.edu;ucsc.edu	37	12	7295478	7295478	+	Silent	SNP	G	G	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:7295478G>T	ENST00000266546.6	+	11	2004	c.1554G>T	c.(1552-1554)tcG>tcT	p.S518S	CLSTN3_ENST00000537408.1_Silent_p.S530S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	518					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.S518S(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCCTTTGTCGATCCACCACT	0.577											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											122	93	103					12																	7295478		2203	4300	6503	SO:0001819	synonymous_variant	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1554G>T	12.37:g.7295478G>T		640	D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	CCDS8575.1																																																																																				0.577	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		T	7295478	G	T	7295478	2	4	597	1	0	0	0	0	0	0	0	1	3565	1045	37	4		4	CLSTN3	12	7295478	Silent	SNP	G	TCGA-CZ-5466-01A-01D-1501-10		7295478	126556417	39	32720											
DNM1L	10059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32886681	32886681	+	Silent	SNP	T	T	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:32886681T>C	ENST00000549701.1	+	13	1553	c.1479T>C	c.(1477-1479)taT>taC	p.Y493Y	DNM1L_ENST00000452533.2_Silent_p.Y493Y|DNM1L_ENST00000266481.6_Silent_p.Y493Y|DNM1L_ENST00000414834.2_Silent_p.Y290Y|DNM1L_ENST00000381000.4_Silent_p.Y506Y|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000553257.1_Silent_p.Y506Y|DNM1L_ENST00000358214.5_Silent_p.Y506Y|DNM1L_ENST00000547312.1_Silent_p.Y493Y			O00429	DNM1L_HUMAN	dynamin 1-like	493	Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.Y493Y(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACTGGCTTATATCAACACAA	0.299																																																1	Substitution - coding silent(1)	kidney(1)											202	209	207					12																	32886681		2203	4300	6503	SO:0001819	synonymous_variant	10059			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1479T>C	12.37:g.32886681T>C			A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	CCDS8729.1																																																																																				0.299	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		C	32886681	T	C	32886681	2	2	597	1	0	0	0	0	0	0	0	1	4673	1413	49	3		3	DNM1L	12	32886681	Silent	SNP	T	TCGA-CZ-5466-01A-01D-1501-10	25591203	32886681	100965214	40	32721											
SLC4A8	9498	broad.mit.edu;ucsc.edu	37	12	51897852	51897852	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:51897852C>A	ENST00000453097.2	+	23	3338	c.3121C>A	c.(3121-3123)Ccc>Acc	p.P1041T		NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.P1041T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGACAAGTTTCCCTTAGAGAG	0.398																																																1	Substitution - Missense(1)	kidney(1)											56	52	54					12																	51897852		1838	4082	5920	SO:0001583	missense	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.3121C>A	12.37:g.51897852C>A	ENSP00000405812:p.Pro1041Thr			Missense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610545	0.46527	.	.	ENSG00000050438	ENST00000453097	T	0.76709	-1.04	5.52	3.65	0.41850	.	.	.	.	.	T	0.74038	0.3664	M	0.69823	2.125	0.80722	D	1	B	0.20164	0.042	B	0.18561	0.022	T	0.70788	-0.4777	9	0.72032	D	0.01	.	8.1378	0.31064	0.0:0.8073:0.0:0.1927	.	1041	Q2Y0W8	S4A8_HUMAN	T	1041	ENSP00000405812:P1041T	ENSP00000405812:P1041T	P	+	1	0	SLC4A8	50184119	0.996000	0.38824	0.998000	0.56505	0.994000	0.84299	1.690000	0.37711	0.763000	0.33175	0.655000	0.94253	CCC		0.398	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		A	51897852	C	A	51897852	3	1	597	1	0	0	0	0	1	0	0	0	14665	855	30	4	3265	4	SLC4A8	12	51897852	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	19011171	51897852	81954043	41	32722											
MFSD5	84975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53647588	53647588	+	Silent	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:53647588C>G	ENST00000329548.4	+	2	1160	c.969C>G	c.(967-969)gtC>gtG	p.V323V	MFSD5_ENST00000534842.1_Silent_p.V430V	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	323					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V323V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TCATCGTCGTCTTCTCTCTCT	0.537																																																1	Substitution - coding silent(1)	kidney(1)											144	123	130					12																	53647588		2203	4300	6503	SO:0001819	synonymous_variant	84975			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.969C>G	12.37:g.53647588C>G			G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Silent	SNP	ENST00000329548.4	37	CCDS8851.1																																																																																				0.537	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		G	53647588	C	G	53647588	2	3	597	1	0	0	0	0	0	0	0	1	9536	900	32	4		4	MFSD5	12	53647588	Silent	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	1749736	53647588	80204307	42	32723											
METTL7B	196410	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56076036	56076036	+	Splice_Site	SNP	G	G	A	rs144071589		TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:56076036G>A	ENST00000394252.3	+	1	707	c.498G>A	c.(496-498)ccG>ccA	p.P166P		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	166							methyltransferase activity (GO:0008168)	p.P116P(1)|p.P166P(1)		kidney(1)|large_intestine(1)|lung(4)	6						TACTGAGACCGGTAAGCAGGG	0.622																																																2	Substitution - coding silent(2)	kidney(2)						G		0,4406		0,0,2203	30	27	28		498	3	1	12	dbSNP_134	28	1,8597		0,1,4298	no	coding-synonymous-near-splice	METTL7B	NM_152637.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		166/245	56076036	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	196410				CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"associated with lipid droplets 1"					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.498+1G>A	12.37:g.56076036G>A			A8K247|Q8WUI1	Silent	SNP	ENST00000394252.3	37	CCDS8887.2																																																																																				0.622	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637	Silent	A	56076036	G	A	56076036	5	1	597	1	0	0	0	0	0	0	1	0	9508	1130	39	1	500	1	METTL7B	12	56076036	Splice_Site	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	2428448	56076036	77775859	43	32724											
ITGA7	3679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56096858	56096858	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:56096858T>C	ENST00000555728.1	-	2	339	c.311A>G	c.(310-312)tAc>tGc	p.Y104C	ITGA7_ENST00000347027.6_Missense_Mutation_p.Y104C|ITGA7_ENST00000257880.7_Missense_Mutation_p.Y104C|ITGA7_ENST00000553804.1_Missense_Mutation_p.Y104C|ITGA7_ENST00000257879.6_Missense_Mutation_p.Y104C|ITGA7_ENST00000394230.2_Missense_Mutation_p.Y104C|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y104C			Q13683	ITA7_HUMAN	integrin, alpha 7	104					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.Y104C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTCCACTCTGTAGCAGTCAGT	0.642																																																2	Substitution - Missense(2)	kidney(2)											112	102	105					12																	56096858		2203	4300	6503	SO:0001583	missense	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.311A>G	12.37:g.56096858T>C	ENSP00000452387:p.Tyr104Cys		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		.	.	.	.	.	.	.	.	.	.	T	16.07	3.018745	0.54576	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	4.35	3.17	0.36434	.	0.496615	0.19624	N	0.109838	D	0.82370	0.5022	L	0.43152	1.355	0.37456	D	0.915019	P;D	0.62365	0.804;0.991	P;P	0.52267	0.694;0.619	T	0.81393	-0.0953	10	0.52906	T	0.07	.	5.1003	0.14756	0.183:0.0:0.1904:0.6266	.	104;167	Q13683-3;Q4LE35	.;.	C	104	ENSP00000452120:Y104C;ENSP00000257879:Y104C;ENSP00000343009:Y104C;ENSP00000257880:Y104C;ENSP00000377777:Y104C;ENSP00000377776:Y104C;ENSP00000452387:Y104C	ENSP00000257879:Y104C	Y	-	2	0	ITGA7	54383125	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.933000	0.28897	0.801000	0.34066	0.402000	0.26972	TAC		0.642	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		C	56096858	T	C	56096858	3	2	597	1	0	0	0	0	1	0	0	0	7883	1638	57	3	3376	3	ITGA7	12	56096858	Missense_Mutation	SNP	T	TCGA-CZ-5466-01A-01D-1501-10	20822	56096858	77755037	44	32725											
AVIL	10677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58201174	58201174	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:58201174C>G	ENST00000257861.3	-	12	1861	c.1431G>C	c.(1429-1431)agG>agC	p.R477S	RNU6-1083P_ENST00000384022.1_RNA|RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000550083.1_5'Flank|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000537081.1_Missense_Mutation_p.R470S	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	477	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.R477S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CCGTTCCCATCCTGACTCGAA	0.557																																																1	Substitution - Missense(1)	kidney(1)											154	130	138					12																	58201174		2203	4300	6503	SO:0001583	missense	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1431G>C	12.37:g.58201174C>G	ENSP00000257861:p.Arg477Ser		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484896	0.26598	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.53857	0.6;0.6	4.77	1.93	0.25924	Gelsolin domain (1);	0.388286	0.30519	N	0.009459	T	0.19327	0.0464	N	0.01134	-0.995	0.28192	N	0.927709	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16958	-1.0385	10	0.28530	T	0.3	-3.751	7.3412	0.26637	0.1628:0.1455:0.6917:0.0	.	470;477	O75366-2;O75366	.;AVIL_HUMAN	S	470;477	ENSP00000443207:R470S;ENSP00000257861:R477S	ENSP00000257861:R477S	R	-	3	2	AVIL	56487441	0.902000	0.30710	0.999000	0.59377	0.938000	0.57974	0.880000	0.28159	0.313000	0.23062	-0.311000	0.09066	AGG		0.557	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		G	58201174	C	G	58201174	3	3	597	1	0	0	0	0	1	0	0	0	1227	854	30	4	1060	4	AVIL	12	58201174	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	2104316	58201174	75650721	45	32726											
DIS3	22894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	73347935	73347935	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr13:73347935C>G	ENST00000377767.4	-	8	1226	c.1126G>C	c.(1126-1128)Gct>Cct	p.A376P	DIS3_ENST00000545453.1_Missense_Mutation_p.A214P|DIS3_ENST00000377780.4_Missense_Mutation_p.A346P	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	376					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.A376P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTCTTATCAGCAGGTGTAAAG	0.378										Multiple Myeloma(4;0.011)																																						1	Substitution - Missense(1)	kidney(1)											93	90	91					13																	73347935		2203	4300	6503	SO:0001583	missense	22894			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1126G>C	13.37:g.73347935C>G	ENSP00000366997:p.Ala376Pro		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193585	0.94960	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.30981	1.51;1.51;1.51	5.63	5.63	0.86233	.	0.046479	0.85682	D	0.000000	T	0.61702	0.2368	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.969	T	0.59359	-0.7469	10	0.33940	T	0.23	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	346;376	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	P	376;346;214	ENSP00000366997:A376P;ENSP00000367011:A346P;ENSP00000440058:A214P	ENSP00000366997:A376P	A	-	1	0	DIS3	72245936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.376000	0.79658	2.805000	0.96524	0.655000	0.94253	GCT		0.378	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		G	73347935	C	G	73347935	3	3	597	1	0	0	0	0	1	0	0	0	4537	710	25	4	1806	4	DIS3	13	73347935	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10		73347935	41821943	46	32727											
SAMD4A	23034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55203899	55203899	+	Silent	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr14:55203899G>A	ENST00000554335.1	+	4	1536	c.873G>A	c.(871-873)ctG>ctA	p.L291L	SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000392067.3_Silent_p.L291L|SAMD4A_ENST00000357634.3_Silent_p.L290L			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	291					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.L290L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ATGCCCCCCTGTCTCCACAAA	0.522																																																1	Substitution - coding silent(1)	kidney(1)											194	180	184					14																	55203899		2203	4300	6503	SO:0001819	synonymous_variant	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.873G>A	14.37:g.55203899G>A			A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	CCDS32084.2																																																																																				0.522	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		A	55203899	G	A	55203899	2	1	597	1	0	0	0	0	0	0	0	1	13827	1364	48	2		2	SAMD4A	14	55203899	Silent	SNP	G	TCGA-CZ-5466-01A-01D-1501-10		55203899	52145641	47	32728											
DDX24	57062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94519372	94519372	+	Silent	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr14:94519372C>T	ENST00000330836.5	-	8	2411	c.2280G>A	c.(2278-2280)gaG>gaA	p.E760E	DDX24_ENST00000553400.1_5'Flank|DDX24_ENST00000555054.1_Silent_p.E717E|DDX24_ENST00000544005.1_Silent_p.E510E	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	760					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.E760E(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCAGCTCAATCTCCAGGGCAG	0.478																																																1	Substitution - coding silent(1)	kidney(1)											80	77	78					14																	94519372		2203	4300	6503	SO:0001819	synonymous_variant	57062			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2280G>A	14.37:g.94519372C>T			E7EMJ4|Q4V9L5	Silent	SNP	ENST00000330836.5	37	CCDS9918.1																																																																																				0.478	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		T	94519372	C	T	94519372	2	4	597	1	0	0	0	0	0	0	0	1	4353	912	32	2		2	DDX24	14	94519372	Silent	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	39315473	94519372	12830168	48	32729											
MKRN3	7681	broad.mit.edu;ucsc.edu	37	15	23811842	23811842	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr15:23811842C>T	ENST00000314520.3	+	1	1389	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	305					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R305C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCTGTGCAGCGTGGTATGGA	0.522																																																1	Substitution - Missense(1)	kidney(1)											104	92	96					15																	23811842		2203	4300	6503	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.913C>T	15.37:g.23811842C>T	ENSP00000313881:p.Arg305Cys			Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160425	0.38119	.	.	ENSG00000179455	ENST00000314520	T	0.36699	1.24	4.07	2.18	0.27775	.	0.055204	0.64402	D	0.000001	T	0.34832	0.0911	M	0.89601	3.045	0.80722	D	1	P	0.43909	0.821	B	0.27076	0.076	T	0.41448	-0.9508	10	0.72032	D	0.01	.	6.8412	0.23963	0.1756:0.7286:0.0:0.0957	.	305	Q13064	MKRN3_HUMAN	C	305	ENSP00000313881:R305C	ENSP00000313881:R305C	R	+	1	0	MKRN3	21362935	1.000000	0.71417	0.959000	0.39883	0.012000	0.07955	4.344000	0.59354	0.676000	0.31285	0.655000	0.94253	CGT		0.522	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		T	23811842	C	T	23811842	3	4	597	1	0	0	0	0	1	0	0	0	9610	768	27	1	915	1	MKRN3	15	23811842	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10		23811842	78719550	49	32730											
PRTG	283659	hgsc.bcm.edu;ucsc.edu	37	15	55931919	55931919	+	Missense_Mutation	SNP	C	C	T	rs144541725	byFrequency	TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr15:55931919C>T	ENST00000389286.4	-	13	2292	c.2245G>A	c.(2245-2247)Gct>Act	p.A749T		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATTTGTGCAGCGGTGAATGCA	0.507													C|||	2	0.000399361	0.0	0.0	5008	,	,		17811	0.001		0.001	False		,,,				2504	0.0															0													159	169	166					15																	55931919		2060	4196	6256	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2245G>A	15.37:g.55931919C>T	ENSP00000373937:p.Ala749Thr			Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.864	0.343590	0.11126	.	.	ENSG00000166450	ENST00000389286	T	0.53423	0.62	5.81	2.09	0.27110	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.265606	0.37483	N	0.002064	T	0.14570	0.0352	N	0.01352	-0.895	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.03433	-1.1037	10	0.16896	T	0.51	-11.8868	3.6989	0.08375	0.3119:0.1876:0.0:0.5005	.	749	Q2VWP7	PRTG_HUMAN	T	749	ENSP00000373937:A749T	ENSP00000373937:A749T	A	-	1	0	PRTG	53719211	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	0.809000	0.27168	0.481000	0.27557	-0.238000	0.12139	GCT		0.507	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		T	55931919	C	T	55931919	3	4	597	1	0	0	0	0	1	0	0	0	12643	768	27	1	1239	1	PRTG	15	55931919	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	32120077	55931919	46599473	50	32731											
CCNB2	9133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59408907	59408907	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr15:59408907A>T	ENST00000288207.2	+	6	807	c.616A>T	c.(616-618)Aag>Tag	p.K206*	CCNB2_ENST00000559622.1_Nonsense_Mutation_p.K125*	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	206					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.K206*(1)		kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						AGTTTCCCGGAAGAAGCTTCA	0.403																																																1	Substitution - Nonsense(1)	kidney(1)											92	90	90					15																	59408907		2191	4291	6482	SO:0001587	stop_gained	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.616A>T	15.37:g.59408907A>T	ENSP00000288207:p.Lys206*		B3KM93|Q6FI99	Nonsense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	A	37	6.401078	0.97537	.	.	ENSG00000157456	ENST00000288207	.	.	.	5.28	5.28	0.74379	.	0.089570	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6947	0.69113	1.0:0.0:0.0:0.0	.	.	.	.	X	206	.	ENSP00000288207:K206X	K	+	1	0	CCNB2	57196199	1.000000	0.71417	0.965000	0.40720	0.673000	0.39480	8.865000	0.92300	2.125000	0.65367	0.528000	0.53228	AAG		0.403	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		T	59408907	A	T	59408907	4	4	597	1	0	0	0	0	0	1	0	0	2915	247	9	5	638	5	CCNB2	15	59408907	Nonsense_Mutation	SNP	A	TCGA-CZ-5466-01A-01D-1501-10	3476988	59408907	43122485	51	32732											
ZNF609	23060	broad.mit.edu;ucsc.edu	37	15	64967175	64967175	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr15:64967175C>G	ENST00000326648.3	+	4	2250	c.2122C>G	c.(2122-2124)Ccc>Gcc	p.P708A		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	708						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P708A(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGCCCAAGCCCACTGTTAT	0.517																																																1	Substitution - Missense(1)	kidney(1)											150	147	148					15																	64967175		2203	4299	6502	SO:0001583	missense	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2122C>G	15.37:g.64967175C>G	ENSP00000316527:p.Pro708Ala		Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737930	0.30774	.	.	ENSG00000180357	ENST00000326648	T	0.50001	0.76	5.79	5.79	0.91817	.	0.102423	0.64402	D	0.000002	T	0.46521	0.1397	L	0.42686	1.345	0.80722	D	1	B	0.26602	0.154	B	0.27262	0.078	T	0.35126	-0.9801	10	0.51188	T	0.08	-16.9106	20.0349	0.97554	0.0:1.0:0.0:0.0	.	708	O15014	ZN609_HUMAN	A	708	ENSP00000316527:P708A	ENSP00000316527:P708A	P	+	1	0	ZNF609	62754228	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.946000	0.63576	2.735000	0.93741	0.591000	0.81541	CCC		0.517	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		G	64967175	C	G	64967175	3	3	597	1	0	0	0	0	1	0	0	0	18040	739	26	4	2136	4	ZNF609	15	64967175	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	5558268	64967175	37564217	52	32733											
NOMO2	283820	broad.mit.edu	37	16	18573208	18573208	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr16:18573208G>C	ENST00000381474.3	-	1	220	c.155C>G	c.(154-156)tCg>tGg	p.S52W	NOMO2_ENST00000330537.6_Missense_Mutation_p.S52W|NOMO2_ENST00000543392.1_5'UTR	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	52						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S52W(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTCGATGAGCGAGTAGTTGAT	0.726																																																1	Substitution - Missense(1)	kidney(1)											16	17	17					16																	18573208		2166	4238	6404	SO:0001583	missense	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.155C>G	16.37:g.18573208G>C	ENSP00000370883:p.Ser52Trp		Q4G177	Missense_Mutation	SNP	ENST00000381474.3	37	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.239998	0.79912	.	.	ENSG00000185164	ENST00000330537;ENST00000381474	T;T	0.06068	3.36;3.35	2.88	2.88	0.33553	.	0.157217	0.43579	U	0.000558	T	0.23171	0.0560	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	P	0.61800	0.894	T	0.08889	-1.0700	10	0.87932	D	0	-0.4586	12.3822	0.55313	0.0:0.0:1.0:0.0	.	52	Q5JPE7	NOMO2_HUMAN	W	52	ENSP00000331851:S52W;ENSP00000370883:S52W	ENSP00000331851:S52W	S	-	2	0	NOMO2	18480709	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.093000	0.89531	1.416000	0.47057	0.455000	0.32223	TCG		0.726	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		C	18573208	G	C	18573208	3	2	597	1	0	0	0	0	1	0	0	0	10534	1059	37	4	3780	4	NOMO2	16	18573208	Missense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10		18573208	71781545	53	32734											
KIF1C	10749	broad.mit.edu	37	17	4924146	4924146	+	Silent	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr17:4924146C>T	ENST00000320785.5	+	21	2340	c.1983C>T	c.(1981-1983)gcC>gcT	p.A661A	AC109333.10_ENST00000438266.1_RNA|KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	661					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.A661A(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGGAAGAAGCCGATCTTCTGC	0.582																																					Melanoma(96;1023 1447 10250 19259 33730)											1	Substitution - coding silent(1)	kidney(1)											23	20	21					17																	4924146		2202	4298	6500	SO:0001819	synonymous_variant	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1983C>T	17.37:g.4924146C>T			D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	CCDS11065.1																																																																																				0.582	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			T	4924146	C	T	4924146	2	4	597	1	0	0	0	0	0	0	0	1	8287	639	23	1		1	KIF1C	17	4924146	Silent	SNP	C	TCGA-CZ-5466-01A-01D-1501-10		4924146	76271064	54	32735											
ABCA6	23460	broad.mit.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	67124895	67124896	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr17:67124895_67124896GG>TT	ENST00000284425.2	-	8	1157_1158	c.983_984CC>AA	c.(982-984)aCC>aAA	p.T328K		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	328					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T328N(1)|p.T328T(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CAACCAAATTGGTGAGGACAGC	0.391																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.983_984delinsTT	17.37:g.67124895_67124896delinsTT	ENSP00000284425:p.Thr328Lys		Q6NSH9|Q8N856|Q8WWZ6	Silent|Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1																																																																																				0.391	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		TT	67124896	GG	TT	67124895	3	4	597	1	0	0	0	0	1	0	0	0	36	1335	47	4	3997	4	ABCA6	17	67124895	Missense_Mutation	DNP	GG	TCGA-CZ-5466-01A-01D-1501-10	62200749	67124895	14070315	55	32736											
DSEL	92126	broad.mit.edu;ucsc.edu	37	18	65180323	65180323	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr18:65180323G>C	ENST00000310045.7	-	2	3026	c.1553C>G	c.(1552-1554)tCa>tGa	p.S518*	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	508					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.S518*(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACACTGGCTTGAGGGTGATGG	0.483																																																1	Substitution - Nonsense(1)	kidney(1)											76	67	70					18																	65180323		2203	4300	6503	SO:0001587	stop_gained	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1553C>G	18.37:g.65180323G>C	ENSP00000310565:p.Ser518*		Q17RH1|Q6P5Z3	Nonsense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	50	16.781355	0.99872	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	.	.	.	5.46	5.46	0.80206	.	0.203046	0.40728	N	0.001040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.086	18.9139	0.92496	0.0:0.0:1.0:0.0	.	.	.	.	X	518;508	.	ENSP00000310565:S518X	S	-	2	0	DSEL	63331303	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	6.461000	0.73522	2.577000	0.86979	0.563000	0.77884	TCA		0.483	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		C	65180323	G	C	65180323	4	2	597	1	0	0	0	0	0	1	0	0	4777	1294	45	4	2119	4	DSEL	18	65180323	Nonsense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10		65180323	12896925	56	32737											
ZNF426	79088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9643586	9643586	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr19:9643586T>G	ENST00000535489.1	-	4	596	c.260A>C	c.(259-261)aAa>aCa	p.K87T	ZNF426_ENST00000253115.2_Missense_Mutation_p.K87T|ZNF426_ENST00000593003.1_Missense_Mutation_p.K49T|ZNF426_ENST00000589289.1_Missense_Mutation_p.K87T			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	87	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K87T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TAGACTGGGTTTGATGATCTG	0.413																																																1	Substitution - Missense(1)	kidney(1)											132	115	120					19																	9643586		2203	4300	6503	SO:0001583	missense	79088			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.260A>C	19.37:g.9643586T>G	ENSP00000439017:p.Lys87Thr		B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486793	0.44249	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.00922	5.54;5.54	1.9	-0.653	0.11447	Krueppel-associated box (3);	.	.	.	.	T	0.01421	0.0046	M	0.84585	2.705	0.09310	N	1	B;B	0.31893	0.345;0.345	B;B	0.20955	0.032;0.032	T	0.38023	-0.9680	9	0.52906	T	0.07	.	2.6258	0.04929	0.0:0.1814:0.2774:0.5412	.	74;87	Q59EH4;Q9BUY5	.;ZN426_HUMAN	T	74;87;87	ENSP00000253115:K87T;ENSP00000439017:K87T	ENSP00000253115:K87T	K	-	2	0	ZNF426	9504586	0.079000	0.21365	0.002000	0.10522	0.930000	0.56654	0.277000	0.18734	-0.244000	0.09639	0.260000	0.18958	AAA		0.413	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		G	9643586	T	G	9643586	3	3	597	1	0	0	0	0	1	0	0	0	17905	1841	64	5	1416	5	ZNF426	19	9643586	Missense_Mutation	SNP	T	TCGA-CZ-5466-01A-01D-1501-10		9643586	49485397	57	32738											
ZFP112	7771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44840845	44840845	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr19:44840845T>G	ENST00000337401.4	-	4	257	c.169A>C	c.(169-171)Ata>Cta	p.I57L	ZNF112_ENST00000354340.4_Missense_Mutation_p.I51L|ZNF112_ENST00000536500.1_Missense_Mutation_p.I74L|CTC-512J12.6_ENST00000588212.1_Missense_Mutation_p.I56L	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I57L(1)|p.I51L(1)									AGCTGGGATATTAGGTCTGGC	0.438																																																2	Substitution - Missense(2)	kidney(2)											139	127	131					19																	44840845		2203	4300	6503	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.169A>C	19.37:g.44840845T>G	ENSP00000337081:p.Ile57Leu		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070159	0.76301	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.00832	5.64;5.64;5.64	4.37	3.27	0.37495	Krueppel-associated box (3);	0.000000	0.35291	N	0.003311	T	0.00695	0.0023	N	0.20304	0.555	0.30960	N	0.723784	B;P;B	0.35507	0.372;0.506;0.372	B;B;B	0.28553	0.042;0.091;0.042	T	0.44982	-0.9292	10	0.48119	T	0.1	-13.8091	7.4765	0.27378	0.0:0.0:0.2205:0.7795	.	56;74;57	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	L	57;57;51;74;56	ENSP00000337081:I57L;ENSP00000346305:I51L;ENSP00000441990:I74L	ENSP00000253426:I56L	I	-	1	0	ZNF285	49532685	0.986000	0.35501	1.000000	0.80357	0.948000	0.59901	2.095000	0.41729	1.965000	0.57142	0.379000	0.24179	ATA		0.438	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		G	44840845	T	G	44840845	3	3	597	1	0	0	0	0	1	0	0	0	17643	1493	52	5	2580	5	ZFP112	19	44840845	Missense_Mutation	SNP	T	TCGA-CZ-5466-01A-01D-1501-10	35197259	44840845	14288138	58	32739											
SLC24A3	57419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	19665938	19665938	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr20:19665938G>C	ENST00000328041.6	+	12	1454	c.1257G>C	c.(1255-1257)gaG>gaC	p.E419D		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	419					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.E419D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						aggacaatgagaatgatgagg	0.552																																																1	Substitution - Missense(1)	kidney(1)											143	126	132					20																	19665938		2203	4300	6503	SO:0001583	missense	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1257G>C	20.37:g.19665938G>C	ENSP00000333519:p.Glu419Asp		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	9.052	0.992330	0.18966	.	.	ENSG00000185052	ENST00000328041	T	0.62788	-0.0	5.67	2.69	0.31865	.	0.276233	0.44688	N	0.000434	T	0.51941	0.1704	L	0.54323	1.7	0.46376	D	0.999018	B	0.06786	0.001	B	0.10450	0.005	T	0.38001	-0.9681	9	.	.	.	.	8.2663	0.31815	0.3114:0.0:0.6886:0.0	.	419	Q9HC58	NCKX3_HUMAN	D	419	ENSP00000333519:E419D	.	E	+	3	2	SLC24A3	19613938	1.000000	0.71417	0.967000	0.41034	0.776000	0.43924	1.029000	0.30140	0.337000	0.23665	0.563000	0.77884	GAG		0.552	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		C	19665938	G	C	19665938	3	2	597	1	0	0	0	0	1	0	0	0	14473	933	33	4	1303	4	SLC24A3	20	19665938	Missense_Mutation	SNP	G	TCGA-CZ-5466-01A-01D-1501-10		19665938	43359582	59	32740											
YWHAB	7529	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	43533772	43533772	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr20:43533772G>A	ENST00000372839.3	+	5	862	c.588G>A	c.(586-588)acG>acA	p.T196T	YWHAB_ENST00000353703.4_Splice_Site_p.T196T|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	196					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.T196T(1)		breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGGCAAAAACGGTGAGAAAGA	0.383																																																1	Substitution - coding silent(1)	kidney(1)											49	50	50					20																	43533772		2203	4300	6503	SO:0001630	splice_region_variant	7529			X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"14-3-3 beta", "14-3-3 alpha"	601289	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.588+1G>A	20.37:g.43533772G>A			A8K9K2|E1P616	Silent	SNP	ENST00000372839.3	37	CCDS13339.1																																																																																				0.383	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404	Silent	A	43533772	G	A	43533772	5	1	597	1	0	0	0	0	0	0	1	0	17506	1130	39	1	598	1	YWHAB	20	43533772	Splice_Site	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	23867834	43533772	19491748	60	32741											
PRIC285	85441	broad.mit.edu	37	20	62192230	62192230	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr20:62192230C>A	ENST00000467148.1	-	15	7268	c.7199G>T	c.(7198-7200)cGg>cTg	p.R2400L	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1831L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2400	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R2400L(1)									GTTTTGCAGCCGCTCATTCTT	0.612																																																1	Substitution - Missense(1)	kidney(1)											94	106	102					20																	62192230		2203	4300	6503	SO:0001583	missense	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7199G>T	20.37:g.62192230C>A	ENSP00000417401:p.Arg2400Leu		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.416029	0.01136	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79454	-1.27;-1.18	4.15	1.65	0.23941	ATPase, AAA+ type, core (1);	1.122620	0.06511	N	0.738046	T	0.50531	0.1621	N	0.04063	-0.285	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.12837	0.002;0.008	T	0.41610	-0.9499	10	0.10902	T	0.67	-12.0129	1.5795	0.02631	0.2053:0.1052:0.1368:0.5527	.	2400;1831	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	L	1831;2400	ENSP00000393257:R1831L;ENSP00000417401:R2400L	ENSP00000393257:R1831L	R	-	2	0	RP4-697K14.7	61662674	0.000000	0.05858	0.705000	0.30386	0.012000	0.07955	-0.773000	0.04689	0.485000	0.27652	-0.339000	0.08088	CGG		0.612	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		A	62192230	C	A	62192230	3	1	597	1	0	0	0	0	1	0	0	0	12490	652	23	4	770	4	PRIC285	20	62192230	Missense_Mutation	SNP	C	TCGA-CZ-5466-01A-01D-1501-10	18658458	62192230	833290	61	32742											
CABIN1	23523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24456572	24456572	+	Silent	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr22:24456572C>T	ENST00000398319.2	+	12	1970	c.1585C>T	c.(1585-1587)Ctg>Ttg	p.L529L	CABIN1_ENST00000263119.5_Silent_p.L529L|CABIN1_ENST00000405822.2_Silent_p.L479L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	529					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.L529L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCCAACCCGCTGCTGAGGGA	0.612																																																1	Substitution - coding silent(1)	kidney(1)											48	43	44					22																	24456572		2203	4300	6503	SO:0001819	synonymous_variant	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1585C>T	22.37:g.24456572C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	CCDS13823.1																																																																																				0.612	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		T	24456572	C	T	24456572	2	4	597	1	0	0	0	0	0	0	0	1	2530	796	28	2		2	CABIN1	22	24456572	Silent	SNP	C	TCGA-CZ-5466-01A-01D-1501-10		24456572	26847994	62	32743											
C22orf30	253143	hgsc.bcm.edu;ucsc.edu	37	22	32109361	32109361	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr22:32109361delA	ENST00000327423.6	-	4	4653	c.4464delT	c.(4462-4464)cttfs	p.L1489fs	PRR14L_ENST00000397493.2_Frame_Shift_Del_p.L1489fs|PRR14L_ENST00000434485.1_Frame_Shift_Del_p.L1489fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1489										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GGGCACCAAGAAGGCAAGGAC	0.488																																																0													262	220	233					22																	32109361		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.4464delT	22.37:g.32109361delA	ENSP00000331845:p.Leu1489fs		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Frame_Shift_Del	DEL	ENST00000327423.6	37	CCDS13900.2																																																																																				0.488	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		-	32109361	A	-	32109361	7	5	597	1	0	1	0	1	0	0	0	0	2144	233	9	0	2015	0	C22orf30	22	32109361	Frame_Shift_Del	DEL	A	TCGA-CZ-5466-01A-01D-1501-10	7652789	32109361	19195205	63	32744											
APOBEC3B	9582	broad.mit.edu;hgsc.bcm.edu	37	22	39380188	39380188	+	Silent	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr22:39380188G>A	ENST00000333467.3	+	2	171	c.126G>A	c.(124-126)aaG>aaA	p.K42K	APOBEC3B_ENST00000402182.3_Silent_p.K42K|APOBEC3B_ENST00000407298.3_Silent_p.K42K	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	42					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K42K(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGAAAATAAAGAGGGGCCGCT	0.488																																																1	Substitution - coding silent(1)	kidney(1)											44	49	47					22																	39380188		2197	4276	6473	SO:0001819	synonymous_variant	9582			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.126G>A	22.37:g.39380188G>A			B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	ENST00000333467.3	37	CCDS13982.1																																																																																				0.488	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		A	39380188	G	A	39380188	2	1	597	1	0	0	0	0	0	0	0	1	790	933	33	2		2	APOBEC3B	22	39380188	Silent	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	7270827	39380188	11924378	64	32745											
STAG2	10735	hgsc.bcm.edu;ucsc.edu	37	X	123195628	123195629	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chrX:123195628_123195629delAG	ENST00000371160.1	+	17	1832_1833	c.1542_1543delAG	c.(1540-1545)acagatfs	p.D515fs	STAG2_ENST00000371157.3_Frame_Shift_Del_p.D515fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Del_p.D515fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.D446fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.D515fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.D515fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	515					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tAGCACTAACAGATAGGCAAGA	0.356																																																0																																										SO:0001589	frameshift_variant	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1542_1543delAG	X.37:g.123195628_123195629delAG	ENSP00000360202:p.Asp515fs		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	CCDS14607.1																																																																																				0.356	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		-	123195629	AG	-	123195628	7	5	597	1	0	1	0	1	0	0	0	0	15248	175	7	0	1600	0	STAG2	23	123195628	Frame_Shift_Del	DEL	AG	TCGA-CZ-5466-01A-01D-1501-10		123195628	32074932	65	32746											
SLC25A14	9016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129483276	129483276	+	Silent	SNP	G	G	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chrX:129483276G>T	ENST00000218197.5	+	4	596	c.369G>T	c.(367-369)ggG>ggT	p.G123G	SLC25A14_ENST00000361980.5_Silent_p.G120G|SLC25A14_ENST00000543953.1_Silent_p.G88G|SLC25A14_ENST00000339231.3_Silent_p.G120G|SLC25A14_ENST00000545805.1_Silent_p.G123G|SLC25A14_ENST00000467496.1_3'UTR	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	123					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.G123G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TTAAAATTGGGATTTACCAAA	0.348																																																1	Substitution - coding silent(1)	kidney(1)											117	94	102					X																	129483276		2203	4300	6503	SO:0001819	synonymous_variant	9016			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"Solute carriers"	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.369G>T	X.37:g.129483276G>T			D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	ENST00000218197.5	37	CCDS14623.1																																																																																				0.348	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		T	129483276	G	T	129483276	2	4	597	1	0	0	0	0	0	0	0	1	14482	1161	41	4		4	SLC25A14	23	129483276	Silent	SNP	G	TCGA-CZ-5466-01A-01D-1501-10	6287648	129483276	25787284	66	32747											
VHL	7428	hgsc.bcm.edu	37	3	10183781	10183782	+	Frame_Shift_Ins	INS	-	-	T	rs5030827		TCGA-CZ-5466-01A-01W-1528-10	TCGA-CZ-5466-11A-01W-1529-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	fa54a534-2a32-474c-8f7b-e38400f0e17b	8f2f6551-1769-408d-8c13-50f6d6ff45d5	g.chr3:10183781_10183782insT	ENST00000256474.2	+	1	1090_1091	c.250_251insT	c.(250-252)gtgfs	p.V84fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.V84fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	84			Missing (in VHLD).|V -> L (in VHLD; type II and type 2C; dbSNP:rs5030827). {ECO:0000269|PubMed:16502427, ECO:0000269|PubMed:8592333}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V84L(2)|p.S72_V87>L(1)|p.V83fs*46(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.V83_L85del(1)|p.V84_E94>E(1)|p.V84fs*47(1)|p.V84fs*69(1)|p.V84fs*74(1)|p.V84fs*72(1)|p.V84fs*73(1)|p.V84_P86del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCCGCGCGTCGTGCTGCCCGTA	0.718		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	14	Deletion - Frameshift(8)|Substitution - Missense(2)|Complex - deletion inframe(2)|Deletion - In frame(2)	kidney(12)|adrenal_gland(1)|soft_tissue(1)	GRCh37	CM077652|CM983401	VHL	M	rs5030827																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.251dupT	3.37:g.10183782_10183782dupT	ENSP00000256474:p.Val84fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.718	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10183782	-	T	10183781	7	5	598	1	0	1	1	0	0	0	0	0	17167	1145	40	0	252	0	VHL	3	10183781	Frame_Shift_Ins	INS	-	TCGA-CZ-5466-01A-01W-1528-10		10183781	187838649	1	32748											
KIAA1751	85452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1920343	1920343	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:1920343T>A	ENST00000434971.2	-	3	169	c.137A>T	c.(136-138)gAc>gTc	p.D46V				Q69YW0	CA222_HUMAN		272								p.D46V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTGTCCCGGGTCCACGTCATC	0.562																																																1	Substitution - Missense(1)	kidney(1)											51	53	52					1																	1920343		1844	4079	5923	SO:0001583	missense	85452																														ENST00000434971.2:c.137A>T	1.37:g.1920343T>A	ENSP00000408078:p.Asp46Val			Missense_Mutation	SNP	ENST00000434971.2	37		.	.	.	.	.	.	.	.	.	.	t	7.261	0.605254	0.14002	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	T;T	0.52526	0.66;0.67	3.29	-6.58	0.01836	.	.	.	.	.	T	0.24586	0.0596	N	0.24115	0.695	0.09310	N	1	P;P	0.38020	0.615;0.615	B;B	0.29077	0.098;0.059	T	0.12344	-1.0551	9	0.33940	T	0.23	.	9.7623	0.40539	0.0:0.4509:0.3959:0.1532	.	46;46	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	V	46;37;46	ENSP00000367853:D37V;ENSP00000408078:D46V	ENSP00000270720:D46V	D	-	2	0	C1orf222	1910203	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.142000	0.00286	-3.095000	0.00246	-0.319000	0.08680	GAC		0.562	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				A	1920343	T	A	1920343	3	1	599	1	0	0	0	0	1	0	0	0	8258	1667	58	5	2215	5	KIAA1751	1	1920343	Missense_Mutation	SNP	T	TCGA-CZ-5467-01A-01D-1501-10		1920343	247330278	1	32749											
CLCN6	1185	broad.mit.edu;ucsc.edu	37	1	11894635	11894635	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:11894635T>G	ENST00000346436.6	+	17	1833	c.1781T>G	c.(1780-1782)gTg>gGg	p.V594G	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.V594G|CLCN6_ENST00000376487.3_Missense_Mutation_p.V572G	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	594					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.V594G(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACAGAGGTGGAAATGGAC	0.463																																																1	Substitution - Missense(1)	kidney(1)											117	118	117					1																	11894635		2203	4300	6503	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1781T>G	1.37:g.11894635T>G	ENSP00000234488:p.Val594Gly		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.744515	0.30865	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.88201	-2.35;-2.35;-2.35	5.26	2.92	0.33932	.	0.184634	0.46758	D	0.000280	D	0.82825	0.5121	L	0.58101	1.795	0.80722	D	1	B;B	0.22080	0.022;0.064	B;B	0.18871	0.013;0.023	T	0.71444	-0.4591	10	0.25751	T	0.34	-13.4348	4.5043	0.11879	0.1423:0.1551:0.0:0.7026	.	572;594	F8W9R3;P51797	.;CLCN6_HUMAN	G	594;572;594	ENSP00000234488:V594G;ENSP00000365670:V572G;ENSP00000365679:V594G	ENSP00000234488:V594G	V	+	2	0	CLCN6	11817222	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.476000	0.45171	0.325000	0.23359	0.374000	0.22700	GTG		0.463	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		G	11894635	T	G	11894635	3	3	599	1	0	0	0	0	1	0	0	0	3469	1696	59	5	1857	5	CLCN6	1	11894635	Missense_Mutation	SNP	T	TCGA-CZ-5467-01A-01D-1501-10	9974292	11894635	237355986	2	32750											
DOCK7	85440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62961314	62961314	+	Silent	SNP	A	A	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:62961314A>T	ENST00000340370.5	-	38	4886	c.4869T>A	c.(4867-4869)tcT>tcA	p.S1623S	DOCK7_ENST00000251157.5_Silent_p.S1645S	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1654					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.S1623S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCACAGTATCAGAAAGAATCA	0.343																																																1	Substitution - coding silent(1)	kidney(1)											81	83	82					1																	62961314		2203	4299	6502	SO:0001819	synonymous_variant	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4869T>A	1.37:g.62961314A>T			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.408134	0.25378	.	.	ENSG00000116641	ENST00000454575	.	.	.	6.02	2.45	0.29901	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6605	0.17667	0.6061:0.2376:0.0652:0.0911	.	.	.	.	R	817	.	.	X	-	1	0	DOCK7	62733902	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.470000	0.22084	0.501000	0.28013	0.528000	0.53228	TGA		0.343	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		T	62961314	A	T	62961314	2	4	599	1	0	0	0	0	0	0	0	1	4694	175	7	5		5	DOCK7	1	62961314	Silent	SNP	A	TCGA-CZ-5467-01A-01D-1501-10	51066679	62961314	186289307	3	32751											
TMEM167B	56900	broad.mit.edu;hgsc.bcm.edu	37	1	109635584	109635584	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:109635584C>G	ENST00000338272.8	+	2	1153	c.83C>G	c.(82-84)cCt>cGt	p.P28R	RP5-1065J22.8_ENST00000608574.1_RNA|TMEM167B_ENST00000473828.1_3'UTR	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	28						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.P28R(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						AAGAAAGTACCTCGTCTCAAA	0.448																																																1	Substitution - Missense(1)	kidney(1)											275	288	283					1																	109635584		2203	4299	6502	SO:0001583	missense	56900				CCDS30789.1	1p13.3	2008-06-06	2008-06-06	2008-06-06	ENSG00000215717	ENSG00000215717			30187	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 119"	C1orf119		12477932	Standard	NM_020141		Approved	AD-020, FLJ90710	uc001dwn.3	Q9NRX6	OTTHUMG00000042364	ENST00000338272.8:c.83C>G	1.37:g.109635584C>G	ENSP00000342148:p.Pro28Arg		B2RUU9	Missense_Mutation	SNP	ENST00000338272.8	37	CCDS30789.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697400	0.88830	.	.	ENSG00000215717	ENST00000338272	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	U	0.000002	T	0.70718	0.3256	.	.	.	0.58432	D	0.999995	D	0.69078	0.997	D	0.67725	0.953	T	0.67078	-0.5761	8	0.32370	T	0.25	-4.2385	17.1829	0.86859	0.0:1.0:0.0:0.0	.	28	Q9NRX6	KISHB_HUMAN	R	28	.	ENSP00000342148:P28R	P	+	2	0	TMEM167B	109437107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.910000	0.75741	2.641000	0.89580	0.650000	0.86243	CCT		0.448	TMEM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100611.2	NM_020141		G	109635584	C	G	109635584	3	3	599	1	0	0	0	0	1	0	0	0	16087	681	24	4	89	4	TMEM167B	1	109635584	Missense_Mutation	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	46674270	109635584	139615037	4	32752											
C1orf25	81627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	185108635	185108635	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:185108635A>C	ENST00000367506.5	-	9	1454	c.1186T>G	c.(1186-1188)Tca>Gca	p.S396A	TRMT1L_ENST00000367504.3_Missense_Mutation_p.S240A	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	396	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.S396A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAAGTCACTGACACTATGCCA	0.383																																																1	Substitution - Missense(1)	kidney(1)											61	61	61					1																	185108635		2203	4300	6503	SO:0001583	missense	0			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1186T>G	1.37:g.185108635A>C	ENSP00000356476:p.Ser396Ala		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275857	0.23307	.	.	ENSG00000121486	ENST00000367504;ENST00000367506;ENST00000458395	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	L	0.33339	1.005	0.58432	D	0.999991	B	0.31383	0.321	B	0.42112	0.376	T	0.55509	-0.8130	9	0.21540	T	0.41	-12.5967	16.3947	0.83586	1.0:0.0:0.0:0.0	.	396	Q7Z2T5	TRM1L_HUMAN	A	240;396;20	.	ENSP00000356474:S240A	S	-	1	0	TRMT1L	183375258	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.027000	0.93706	2.272000	0.75746	0.459000	0.35465	TCA		0.383	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		C	185108635	A	C	185108635	3	2	599	1	0	0	0	0	1	0	0	0	2036	275	10	5	1043	5	C1orf25	1	185108635	Missense_Mutation	SNP	A	TCGA-CZ-5467-01A-01D-1501-10	75473051	185108635	64141986	5	32753											
SIPA1L2	57568	broad.mit.edu;ucsc.edu	37	1	232607212	232607212	+	Silent	SNP	T	T	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:232607212T>A	ENST00000366630.1	-	7	2506	c.2148A>T	c.(2146-2148)gcA>gcT	p.A716A	SIPA1L2_ENST00000262861.4_Silent_p.A716A			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	716	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.A716A(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TAAAAGGAAGTGCCCCAGGCT	0.423																																																1	Substitution - coding silent(1)	kidney(1)											144	149	147					1																	232607212		2123	4276	6399	SO:0001819	synonymous_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2148A>T	1.37:g.232607212T>A			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	CCDS41474.1																																																																																				0.423	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		A	232607212	T	A	232607212	2	1	599	1	0	0	0	0	0	0	0	1	14336	1683	59	5		5	SIPA1L2	1	232607212	Silent	SNP	T	TCGA-CZ-5467-01A-01D-1501-10	47498577	232607212	16643409	6	32754											
GREB1	9687	broad.mit.edu;ucsc.edu	37	2	11706697	11706697	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:11706697G>T	ENST00000381486.2	+	4	669	c.369G>T	c.(367-369)aaG>aaT	p.K123N	GREB1_ENST00000234142.5_Missense_Mutation_p.K123N|GREB1_ENST00000381483.2_Missense_Mutation_p.K123N|GREB1_ENST00000263834.5_Missense_Mutation_p.K123N|GREB1_ENST00000389825.3_Missense_Mutation_p.K13N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	123						integral component of membrane (GO:0016021)		p.K123N(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGGGGGTCAAGTCCCCCAGCC	0.587																																					Ovarian(39;850 945 2785 23371 33093)											3	Substitution - Missense(3)	kidney(3)											110	99	103					2																	11706697		2203	4300	6503	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.369G>T	2.37:g.11706697G>T	ENSP00000370896:p.Lys123Asn		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870675	0.91587	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.67523	2.65;1.79;-0.27;1.68;2.65	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.82646	0.5082	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.997;0.994	D	0.84248	0.0476	10	0.87932	D	0	-51.9779	19.4103	0.94670	0.0:0.0:1.0:0.0	.	123;13;123;123	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	N	123;123;13;123;123	ENSP00000370896:K123N;ENSP00000263834:K123N;ENSP00000374475:K13N;ENSP00000370892:K123N;ENSP00000234142:K123N	ENSP00000234142:K123N	K	+	3	2	GREB1	11624148	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.300000	0.51834	2.583000	0.87209	0.655000	0.94253	AAG		0.587	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		T	11706697	G	T	11706697	3	4	599	1	0	0	0	0	1	0	0	0	6762	1020	36	4	379	4	GREB1	2	11706697	Missense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10		11706697	231492676	7	32755	245	2									
GREB1	9687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11706699	11706699	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:11706699C>A	ENST00000381486.2	+	4	671	c.371C>A	c.(370-372)tCc>tAc	p.S124Y	GREB1_ENST00000234142.5_Missense_Mutation_p.S124Y|GREB1_ENST00000381483.2_Missense_Mutation_p.S124Y|GREB1_ENST00000263834.5_Missense_Mutation_p.S124Y|GREB1_ENST00000389825.3_Missense_Mutation_p.S14Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	124						integral component of membrane (GO:0016021)		p.S124Y(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGGGTCAAGTCCCCCAGCCTG	0.582																																					Ovarian(39;850 945 2785 23371 33093)											3	Substitution - Missense(3)	kidney(3)											112	101	104					2																	11706699		2203	4300	6503	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.371C>A	2.37:g.11706699C>A	ENSP00000370896:p.Ser124Tyr		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	32	5.123716	0.94429	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.61859	2.75;1.77;0.07;1.78;2.75	5.51	5.51	0.81932	.	0.219131	0.39985	N	0.001202	T	0.76205	0.3955	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.71674	0.995;0.998;0.996;0.988	D;D;D;P	0.69824	0.94;0.966;0.912;0.863	T	0.78339	-0.2242	10	0.87932	D	0	-42.1595	19.4103	0.94670	0.0:1.0:0.0:0.0	.	124;14;124;124	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	Y	124;124;14;124;124	ENSP00000370896:S124Y;ENSP00000263834:S124Y;ENSP00000374475:S14Y;ENSP00000370892:S124Y;ENSP00000234142:S124Y	ENSP00000234142:S124Y	S	+	2	0	GREB1	11624150	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.666000	0.83877	2.583000	0.87209	0.655000	0.94253	TCC		0.582	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		A	11706699	C	A	11706699	3	1	599	1	0	0	0	0	1	0	0	0	6762	855	30	4	381	4	GREB1	2	11706699	Missense_Mutation	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	2	11706699	231492674	8	32756	245	2									
LAPTM4A	9741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	20237323	20237323	+	Silent	SNP	T	T	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:20237323T>G	ENST00000175091.4	-	3	792	c.285A>C	c.(283-285)tcA>tcC	p.S95S		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	95					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S95S(1)		endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACCAGCATTGAACTGATTA	0.308																																					Ovarian(90;1240 1386 7711 14384 46863)											1	Substitution - coding silent(1)	kidney(1)											88	89	88					2																	20237323		2203	4300	6503	SO:0001819	synonymous_variant	9741			D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"lysosomal-associated protein transmembrane 4 alpha"	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.285A>C	2.37:g.20237323T>G			Q6UW22	Silent	SNP	ENST00000175091.4	37	CCDS1696.1																																																																																				0.308	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1	NM_014713		G	20237323	T	G	20237323	2	3	599	1	0	0	0	0	0	0	0	1	8626	1799	63	5		5	LAPTM4A	2	20237323	Silent	SNP	T	TCGA-CZ-5467-01A-01D-1501-10	8530624	20237323	222962050	9	32757											
ANAPC1	64682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	112625654	112625654	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:112625654A>C	ENST00000341068.3	-	7	1403	c.631T>G	c.(631-633)Ttc>Gtc	p.F211V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	211					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.F211V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGCATGCTGAACATAGTAGGT	0.308																																																1	Substitution - Missense(1)	kidney(1)											68	72	71					2																	112625654		2203	4300	6503	SO:0001583	missense	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.631T>G	2.37:g.112625654A>C	ENSP00000339109:p.Phe211Val		Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289840	0.80914	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.32	4.32	0.51571	.	0.000000	0.47455	U	0.000228	T	0.77968	0.4210	M	0.83118	2.625	0.80722	D	1	D	0.63046	0.992	D	0.64687	0.928	T	0.80044	-0.1547	9	0.44086	T	0.13	-24.2677	13.9236	0.63948	1.0:0.0:0.0:0.0	.	211	Q9H1A4	APC1_HUMAN	V	211	.	ENSP00000339109:F211V	F	-	1	0	ANAPC1	112342125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.848000	0.86902	1.927000	0.55829	0.455000	0.32223	TTC		0.308	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		C	112625654	A	C	112625654	3	2	599	1	0	0	0	0	1	0	0	0	598	43	2	5	5371	5	ANAPC1	2	112625654	Missense_Mutation	SNP	A	TCGA-CZ-5467-01A-01D-1501-10	92388331	112625654	130573719	10	32758											
NEB	4703	broad.mit.edu;ucsc.edu	37	2	152553192	152553192	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:152553192C>A	ENST00000172853.10	-	17	1675	c.1528G>T	c.(1528-1530)Gtt>Ttt	p.V510F	NEB_ENST00000603639.1_Missense_Mutation_p.V510F|NEB_ENST00000397345.3_Missense_Mutation_p.V510F|NEB_ENST00000604864.1_Missense_Mutation_p.V510F|NEB_ENST00000409198.1_Missense_Mutation_p.V510F|NEB_ENST00000427231.2_Missense_Mutation_p.V510F			P20929	NEBU_HUMAN	nebulin	510					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.V510F(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTAGCAGAACAGGAGAGTCT	0.423																																																2	Substitution - Missense(2)	kidney(2)											220	216	217					2																	152553192		1908	4126	6034	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1528G>T	2.37:g.152553192C>A	ENSP00000172853:p.Val510Phe		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	15.72	2.916745	0.52546	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.93	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.72118	2.19	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71656	0.974;0.952	T	0.69262	-0.5191	10	0.62326	D	0.03	.	13.0822	0.59119	0.0:0.9254:0.0:0.0746	.	143;510	Q86TG3;P20929	.;NEBU_HUMAN	F	510;510;510;510;236	ENSP00000386259:V510F;ENSP00000380505:V510F;ENSP00000416578:V510F;ENSP00000172853:V510F	ENSP00000172853:V510F	V	-	1	0	NEB	152261438	1.000000	0.71417	0.979000	0.43373	0.204000	0.24138	2.463000	0.45058	1.524000	0.49035	-0.259000	0.10710	GTT		0.423	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		A	152553192	C	A	152553192	3	1	599	1	0	0	0	0	1	0	0	0	10304	478	17	4	24822	4	NEB	2	152553192	Missense_Mutation	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	39927538	152553192	90646181	11	32759											
BAZ2B	29994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160205332	160205332	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:160205332C>A	ENST00000392783.2	-	30	5645	c.5150G>T	c.(5149-5151)gGt>gTt	p.G1717V	BAZ2B_ENST00000343439.5_Missense_Mutation_p.G1617V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G1683V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G1681V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1717					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G1717V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCTCCACCAACCAAACTGCAT	0.308																																																1	Substitution - Missense(1)	kidney(1)											89	77	81					2																	160205332		1804	4075	5879	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5150G>T	2.37:g.160205332C>A	ENSP00000376534:p.Gly1717Val		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833111	0.32421	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	D;D;D;D	0.83837	-1.77;-1.7;-1.77;-1.69	5.48	5.48	0.80851	.	0.000000	0.37669	U	0.001996	D	0.90734	0.7092	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90955	0.4808	10	0.72032	D	0.01	-15.3817	19.7152	0.96115	0.0:1.0:0.0:0.0	.	1681;1717	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	V	1681;1717;1683;1617	ENSP00000376533:G1681V;ENSP00000376534:G1717V;ENSP00000348087:G1683V;ENSP00000339670:G1617V	ENSP00000339670:G1617V	G	-	2	0	BAZ2B	159913578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.733000	0.93635	0.591000	0.81541	GGT		0.308	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			A	160205332	C	A	160205332	3	1	599	1	0	0	0	0	1	0	0	0	1332	507	18	4	1388	4	BAZ2B	2	160205332	Missense_Mutation	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	7652140	160205332	82994041	12	32760											
C2orf67	151050	broad.mit.edu	37	2	210887820	210887820	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:210887820C>G	ENST00000281772.9	-	15	3080	c.2817G>C	c.(2815-2817)caG>caC	p.Q939H	KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q897H	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	939						histone acetyltransferase complex (GO:0000123)		p.Q939H(1)									ACCTTTCAACCTGATCCTTTT	0.443																																																1	Substitution - Missense(1)	kidney(1)											124	117	119					2																	210887820		2203	4300	6503	SO:0001583	missense	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2817G>C	2.37:g.210887820C>G	ENSP00000281772:p.Gln939His		B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	1.917	-0.449390	0.04572	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.6	2.73	0.32206	.	0.911616	0.09248	N	0.828287	T	0.27241	0.0668	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.23583	-1.0184	9	0.45353	T	0.12	.	3.1241	0.06401	0.154:0.5548:0.1493:0.1419	.	897;939	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	H	939;897	.	ENSP00000281772:Q939H	Q	-	3	2	C2orf67	210596065	0.315000	0.24571	0.004000	0.12327	0.046000	0.14306	1.192000	0.32150	0.680000	0.31366	0.591000	0.81541	CAG		0.443	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		G	210887820	C	G	210887820	3	3	599	1	0	0	0	0	1	0	0	0	2188	680	24	4	150	4	C2orf67	2	210887820	Missense_Mutation	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	50682488	210887820	32311553	13	32761											
GLT8D1	55830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52729443	52729443	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr3:52729443T>C	ENST00000407584.3	-	9	1656	c.806A>G	c.(805-807)aAt>aGt	p.N269S	GLT8D1_ENST00000266014.5_Missense_Mutation_p.N269S|GLT8D1_ENST00000394783.3_Missense_Mutation_p.N269S|SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000478968.2_Missense_Mutation_p.N269S|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000491606.1_Missense_Mutation_p.N269S	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	269						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.N269S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTACTCTACATTGAGTTTCAT	0.378																																																1	Substitution - Missense(1)	kidney(1)											189	194	192					3																	52729443		2203	4300	6503	SO:0001583	missense	55830			AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"Glycosyltransferase family 8 domain containing"	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.806A>G	3.37:g.52729443T>C	ENSP00000385730:p.Asn269Ser		Q7Z4D1|Q8N2J6|Q9P0I5	Missense_Mutation	SNP	ENST00000407584.3	37	CCDS2862.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.724708	0.68959	.	.	ENSG00000016864	ENST00000478968;ENST00000394783;ENST00000407584;ENST00000266014;ENST00000491606;ENST00000394786	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	M	0.74467	2.265	0.80722	D	1	P	0.40000	0.698	B	0.39379	0.298	T	0.54118	-0.8341	10	0.59425	D	0.04	-26.1449	16.4159	0.83738	0.0:0.0:0.0:1.0	.	269	Q68CQ7	GL8D1_HUMAN	S	269;269;269;269;269;100	ENSP00000419612:N269S;ENSP00000378263:N269S;ENSP00000385730:N269S;ENSP00000266014:N269S;ENSP00000418853:N269S	ENSP00000266014:N269S	N	-	2	0	GLT8D1	52704483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.279000	0.76181	0.533000	0.62120	AAT		0.378	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352065.3	NM_152932		C	52729443	T	C	52729443	3	2	599	1	0	0	0	0	1	0	0	0	6471	1493	52	3	321	3	GLT8D1	3	52729443	Missense_Mutation	SNP	T	TCGA-CZ-5467-01A-01D-1501-10		52729443	145292987	14	32762											
ARHGEF3	50650	broad.mit.edu;hgsc.bcm.edu	37	3	56789107	56789107	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr3:56789107G>C	ENST00000296315.3	-	3	445	c.277C>G	c.(277-279)Ccc>Gcc	p.P93A	ARHGEF3_ENST00000413728.2_Missense_Mutation_p.P99A|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.P64A|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.P99A|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.P125A|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.P93A	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	93					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P93A(2)|p.P125A(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GTGCTCGAGGGGGCGGCATTT	0.537																																																3	Substitution - Missense(3)	kidney(3)											121	121	121					3																	56789107		2203	4300	6503	SO:0001583	missense	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.277C>G	3.37:g.56789107G>C	ENSP00000296315:p.Pro93Ala		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497691	0.44455	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T	0.24350	1.95;1.86;1.86;1.88;1.88;1.97	5.2	0.494	0.16884	.	0.312522	0.33792	N	0.004549	T	0.16896	0.0406	L	0.41710	1.295	0.30011	N	0.815147	B;B;B;B;B;B	0.13145	0.005;0.003;0.0;0.007;0.0;0.002	B;B;B;B;B;B	0.15052	0.005;0.003;0.003;0.012;0.002;0.007	T	0.09037	-1.0693	10	0.41790	T	0.15	-9.0343	5.5158	0.16906	0.3972:0.1303:0.4725:0.0	.	99;64;93;125;93;99	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	A	93;125;99;99;64;93;94;111	ENSP00000296315:P93A;ENSP00000341071:P125A;ENSP00000410922:P99A;ENSP00000420420:P99A;ENSP00000418826:P64A;ENSP00000417986:P93A	ENSP00000296315:P93A	P	-	1	0	ARHGEF3	56764147	0.997000	0.39634	0.637000	0.29366	0.991000	0.79684	0.942000	0.29017	-0.137000	0.11455	0.563000	0.77884	CCC		0.537	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		C	56789107	G	C	56789107	3	2	599	1	0	0	0	0	1	0	0	0	904	1232	43	4	1335	4	ARHGEF3	3	56789107	Missense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10	4059664	56789107	141233323	15	32763											
NLGN1	22871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	173322838	173322838	+	Silent	SNP	C	C	T	rs140286287		TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr3:173322838C>T	ENST00000457714.1	+	3	879	c.450C>T	c.(448-450)agC>agT	p.S150S	NLGN1_ENST00000361589.4_Silent_p.S150S|NLGN1_ENST00000545397.1_Silent_p.S150S|NLGN1_ENST00000401917.3_Silent_p.S150S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	150					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.S150S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAGACCAGAGCGAAGACTGCC	0.373																																																1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	109	111	110		450	3.2	1	3	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NLGN1	NM_014932.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		150/824	173322838	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.450C>T	3.37:g.173322838C>T			Q9UPT2	Silent	SNP	ENST00000457714.1	37	CCDS3222.1																																																																																				0.373	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		T	173322838	C	T	173322838	2	4	599	1	0	0	0	0	0	0	0	1	10463	767	27	1		1	NLGN1	3	173322838	Silent	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	116533731	173322838	24699592	16	32764											
PDGFRA	5156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	55131181	55131181	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr4:55131181G>T	ENST00000257290.5	+	5	1055	c.724G>T	c.(724-726)Gtg>Ttg	p.V242L	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	242	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V242L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TAACAATGAGGTGGTTGACCT	0.463			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	1	Substitution - Missense(1)	kidney(1)											156	147	150					4																	55131181		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.724G>T	4.37:g.55131181G>T	ENSP00000257290:p.Val242Leu		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710560	0.48517	.	.	ENSG00000134853	ENST00000257290	T	0.66815	-0.23	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.29522	U	0.011903	T	0.62208	0.2409	L	0.43757	1.38	0.80722	D	1	B;B	0.33807	0.15;0.426	B;B	0.38755	0.101;0.281	T	0.57452	-0.7809	10	0.08837	T	0.75	.	19.0765	0.93165	0.0:0.0:1.0:0.0	.	242;242	P16234-3;P16234	.;PGFRA_HUMAN	L	242	ENSP00000257290:V242L	ENSP00000257290:V242L	V	+	1	0	PDGFRA	54825938	1.000000	0.71417	0.983000	0.44433	0.745000	0.42441	4.460000	0.60108	2.518000	0.84900	0.561000	0.74099	GTG		0.463	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		T	55131181	G	T	55131181	3	4	599	1	0	0	0	0	1	0	0	0	11663	1261	44	4	738	4	PDGFRA	4	55131181	Missense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10		55131181	136023095	17	32765											
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	73985963	73985963	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr4:73985963G>T	ENST00000358602.4	-	21	4057	c.3941C>A	c.(3940-3942)cCt>cAt	p.P1314H	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1063H|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1201H|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1314					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P1314H(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGAACTGGAGGGGCATTAAC	0.453																																																1	Substitution - Missense(1)	kidney(1)											159	144	149					4																	73985963		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3941C>A	4.37:g.73985963G>T	ENSP00000351416:p.Pro1314His		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913656	0.92178	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.68624	-0.34;-0.3;-0.31	5.68	5.68	0.88126	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000003	T	0.76328	0.3972	L	0.31845	0.965	0.58432	D	0.99999	D;D;D;D;D	0.89917	0.99;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.95;0.98;0.98;0.989;1.0	T	0.78142	-0.2319	10	0.87932	D	0	.	19.7934	0.96469	0.0:0.0:1.0:0.0	.	835;1313;1063;1314;1201	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	H	1314;1063;1201	ENSP00000351416:P1314H;ENSP00000332265:P1063H;ENSP00000427151:P1201H	ENSP00000332265:P1063H	P	-	2	0	ANKRD17	74204827	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.678000	0.91216	0.585000	0.79938	CCT		0.453	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	73985963	G	T	73985963	3	4	599	1	0	0	0	0	1	0	0	0	646	1000	35	4	3926	4	ANKRD17	4	73985963	Missense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10	18854782	73985963	117168313	18	32766											
ANKRD55	79722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	55412459	55412459	+	Silent	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr5:55412459G>T	ENST00000341048.4	-	9	1099	c.948C>A	c.(946-948)ctC>ctA	p.L316L	ANKRD55_ENST00000504958.2_Silent_p.L273L|ANKRD55_ENST00000434982.2_Silent_p.L28L|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	316								p.L316L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTTGGGAGAGGAGTTTGACAC	0.473																																																1	Substitution - coding silent(1)	kidney(1)											101	108	105					5																	55412459		2203	4300	6503	SO:0001819	synonymous_variant	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.948C>A	5.37:g.55412459G>T			B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	CCDS34161.1																																																																																				0.473	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		T	55412459	G	T	55412459	2	4	599	1	0	0	0	0	0	0	0	1	681	1161	41	4		4	ANKRD55	5	55412459	Silent	SNP	G	TCGA-CZ-5467-01A-01D-1501-10		55412459	125502801	19	32767											
VCAN	1462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	82835015	82835015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr5:82835015G>T	ENST00000265077.3	+	8	6758	c.6193G>T	c.(6193-6195)Gaa>Taa	p.E2065*	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Nonsense_Mutation_p.E1078*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2065	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.E2065*(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACCAACAGCAGAAGTGGAAGG	0.428																																																1	Substitution - Nonsense(1)	kidney(1)											66	63	64					5																	82835015		2203	4300	6503	SO:0001587	stop_gained	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6193G>T	5.37:g.82835015G>T	ENSP00000265077:p.Glu2065*		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	48	14.634744	0.99803	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	.	.	.	4.98	3.06	0.35304	.	0.697403	0.13016	N	0.420456	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	2.7536	0.05287	0.1733:0.1455:0.5315:0.1497	.	.	.	.	X	2065;1078;1078	.	ENSP00000265077:E2065X	E	+	1	0	VCAN	82870771	0.032000	0.19561	0.015000	0.15790	0.214000	0.24535	1.356000	0.34079	1.229000	0.43630	0.591000	0.81541	GAA		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82835015	G	T	82835015	4	4	599	1	0	0	0	0	0	1	0	0	17143	943	33	4	6219	4	VCAN	5	82835015	Nonsense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10	27422556	82835015	98080245	20	32768											
C6orf27	80737	broad.mit.edu	37	6	31744362	31744362	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr6:31744362delT	ENST00000375688.4	-	2	395	c.195delA	c.(193-195)ccafs	p.P67fs	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Frame_Shift_Del_p.P67fs|VWA7_ENST00000447450.1_Frame_Shift_Del_p.P67fs|Y_RNA_ENST00000364685.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	67						extracellular region (GO:0005576)											GGCCTGGGGGTGGCTGCTCCA	0.637																																																0													15	7	10					6																	31744362		1363	2474	3837	SO:0001589	frameshift_variant	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.195delA	6.37:g.31744362delT	ENSP00000364840:p.Pro67fs		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Frame_Shift_Del	DEL	ENST00000375688.4	37	CCDS4721.2																																																																																				0.637	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		-	31744362	T	-	31744362	7	5	599	1	0	1	0	1	0	0	0	0	2364	1683	59	0	2543	0	C6orf27	6	31744362	Frame_Shift_Del	DEL	T	TCGA-CZ-5467-01A-01D-1501-10		31744362	139370705	21	32769											
LAMA2	3908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	129588336	129588336	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr6:129588336C>A	ENST00000421865.2	+	16	2343	c.2294C>A	c.(2293-2295)tCc>tAc	p.S765Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	765	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.S765Y(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATGCGGAGTCCTGTGATGAC	0.488																																																1	Substitution - Missense(1)	kidney(1)											317	263	282					6																	129588336		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2294C>A	6.37:g.129588336C>A	ENSP00000400365:p.Ser765Tyr		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797858	0.50208	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.62788	0.0	5.75	4.88	0.63580	EGF-like, laminin (3);	0.495395	0.21595	N	0.072034	T	0.45054	0.1323	L	0.60904	1.88	0.22266	N	0.999245	P;P	0.39022	0.655;0.655	B;B	0.37198	0.243;0.243	T	0.49000	-0.8984	10	0.66056	D	0.02	.	13.1822	0.59662	0.0:0.8705:0.0:0.1295	.	765;765	A6NF00;P24043	.;LAMA2_HUMAN	Y	765	ENSP00000400365:S765Y	ENSP00000346769:S765Y	S	+	2	0	LAMA2	129630029	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	0.613000	0.24299	2.719000	0.93026	0.655000	0.94253	TCC		0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			A	129588336	C	A	129588336	3	1	599	1	0	0	0	0	1	0	0	0	8608	855	30	4	2356	4	LAMA2	6	129588336	Missense_Mutation	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	97843974	129588336	41526731	22	32770											
GGCT	79017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	30538534	30538534	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr7:30538534C>T	ENST00000275428.4	-	3	442	c.308G>A	c.(307-309)gGa>gAa	p.G103E	GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000598361.1_Missense_Mutation_p.G18E|GGCT_ENST00000409436.1_Missense_Mutation_p.G103E|GGCT_ENST00000005374.6_Intron	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	103					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)	p.G103A(1)|p.G103E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						AACATACATTCCACTTTTAAC	0.378																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											146	138	141					7																	30538534		2203	4300	6503	SO:0001583	missense	79017			BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"chromosome 7 open reading frame 24"	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.308G>A	7.37:g.30538534C>T	ENSP00000275428:p.Gly103Glu		B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Missense_Mutation	SNP	ENST00000275428.4	37	CCDS5428.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684927	0.88639	.	.	ENSG00000006625	ENST00000275428;ENST00000497601;ENST00000409436	.	.	.	5.55	5.55	0.83447	Butirosin biosynthesis, BtrG-like (1);AIG2-like (1);	0.095412	0.64402	D	0.000001	D	0.83220	0.5207	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83617	0.0137	9	0.52906	T	0.07	-16.9986	18.8487	0.92218	0.0:1.0:0.0:0.0	.	103;42	O75223;E7EU55	GGCT_HUMAN;.	E	103;42;103	.	ENSP00000275428:G103E	G	-	2	0	GGCT	30505059	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	4.442000	0.59988	2.773000	0.95371	0.650000	0.86243	GGA		0.378	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		T	30538534	C	T	30538534	3	4	599	1	0	0	0	0	1	0	0	0	6357	855	30	2	266	2	GGCT	7	30538534	Missense_Mutation	SNP	C	TCGA-CZ-5467-01A-01D-1501-10		30538534	128600129	23	32771											
GRB10	2887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	50737542	50737542	+	Silent	SNP	G	G	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr7:50737542G>A	ENST00000401949.1	-	7	850	c.381C>T	c.(379-381)gaC>gaT	p.D127D	GRB10_ENST00000439599.1_Silent_p.D121D|GRB10_ENST00000407526.1_Silent_p.D69D|GRB10_ENST00000398812.2_Silent_p.D127D|GRB10_ENST00000398810.2_Silent_p.D69D|GRB10_ENST00000406641.1_Silent_p.D69D|GRB10_ENST00000335866.3_Silent_p.D69D|GRB10_ENST00000402578.1_Silent_p.D69D|GRB10_ENST00000357271.5_Silent_p.D127D|GRB10_ENST00000403097.1_Silent_p.D121D|GRB10_ENST00000402497.1_Silent_p.D69D			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	127					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.D127D(1)|p.D121D(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TAAACTGCTGGTCTTCCTCCT	0.567									Russell-Silver syndrome																																							2	Substitution - coding silent(2)	kidney(2)											25	30	28					7																	50737542		1970	4156	6126	SO:0001819	synonymous_variant	2887	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.381C>T	7.37:g.50737542G>A			A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	CCDS43582.1																																																																																				0.567	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			A	50737542	G	A	50737542	2	1	599	1	0	0	0	0	0	0	0	1	6758	1252	44	2		2	GRB10	7	50737542	Silent	SNP	G	TCGA-CZ-5467-01A-01D-1501-10	20199008	50737542	108401121	24	32772											
C7orf66	154907	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	108524166	108524166	+	Silent	SNP	A	A	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr7:108524166A>G	ENST00000379007.2	-	2	300	c.246T>C	c.(244-246)atT>atC	p.I82I		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	82						integral component of membrane (GO:0016021)		p.I82I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						ATCCCTCATGAATTCTAGTTC	0.393																																																1	Substitution - coding silent(1)	kidney(1)											187	161	170					7																	108524166		2203	4300	6503	SO:0001819	synonymous_variant	154907			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.246T>C	7.37:g.108524166A>G				Silent	SNP	ENST00000379007.2	37	CCDS34735.1																																																																																				0.393	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		G	108524166	A	G	108524166	2	3	599	1	0	0	0	0	0	0	0	1	2414	242	9	3		3	C7orf66	7	108524166	Silent	SNP	A	TCGA-CZ-5467-01A-01D-1501-10	57786624	108524166	50614497	25	32773											
DEPDC6	64798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	121019105	121019105	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr8:121019105G>C	ENST00000286234.5	+	7	1117	c.987G>C	c.(985-987)aaG>aaC	p.K329N	DEPTOR_ENST00000523492.1_Missense_Mutation_p.K228N|DEPTOR_ENST00000518057.1_3'UTR	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	329					intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)		p.K329N(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATGCAAGGAAGACATTCACGG	0.498																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											145	120	129					8																	121019105		2203	4300	6503	SO:0001583	missense	64798				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"DEP domain containing 6"	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.987G>C	8.37:g.121019105G>C	ENSP00000286234:p.Lys329Asn		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	ENST00000286234.5	37	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.708227	0.68615	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.30714	1.52;1.52	5.2	4.31	0.51392	PDZ/DHR/GLGF (1);	0.139857	0.64402	D	0.000008	T	0.51517	0.1679	M	0.76170	2.325	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.96	T	0.54139	-0.8338	10	0.72032	D	0.01	-34.4088	8.7159	0.34411	0.2145:0.0:0.7855:0.0	.	228;329	E7EV87;Q8TB45	.;DPTOR_HUMAN	N	228;329	ENSP00000430457:K228N;ENSP00000286234:K329N	ENSP00000286234:K329N	K	+	3	2	DEPTOR	121088286	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.829000	0.48128	1.411000	0.46957	0.655000	0.94253	AAG		0.498	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		C	121019105	G	C	121019105	3	2	599	1	0	0	0	0	1	0	0	0	4445	933	33	4	1013	4	DEPDC6	8	121019105	Missense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10		121019105	25344917	26	32774											
GOLM1	51280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	88692459	88692459	+	Silent	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr9:88692459C>T	ENST00000388712.3	-	3	345	c.177G>A	c.(175-177)gaG>gaA	p.E59E	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Silent_p.E59E	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	59					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.E59E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CGGCGCCTCTCTCTGCAGCCG	0.597																																																1	Substitution - coding silent(1)	kidney(1)											90	88	88					9																	88692459		2203	4300	6503	SO:0001819	synonymous_variant	51280			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.177G>A	9.37:g.88692459C>T			Q6IAF4|Q9NRB9	Silent	SNP	ENST00000388712.3	37	CCDS35054.1																																																																																				0.597	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		T	88692459	C	T	88692459	2	4	599	1	0	0	0	0	0	0	0	1	6569	912	32	2		2	GOLM1	9	88692459	Silent	SNP	C	TCGA-CZ-5467-01A-01D-1501-10		88692459	52520972	27	32775											
COMMD3	23412	broad.mit.edu	37	10	22605369	22605369	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr10:22605369A>G	ENST00000376836.3	+	1	467	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	COMMD3-BMI1_ENST00000463409.2_3'UTR|COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.Q8R	NM_012071.3	NP_036203.1	Q9UBI1	COMD3_HUMAN	COMM domain containing 3	8								p.Q8R(1)		kidney(2)|lung(2)|ovary(1)	5						GAGTCTGTGCAGAAAGGCTTC	0.672																																																1	Substitution - Missense(1)	kidney(1)											56	35	42					10																	22605369		2096	4139	6235	SO:0001583	missense	648			AY542159	CCDS7137.1	10p12.2	2012-09-20	2004-02-13	2004-02-18	ENSG00000148444	ENSG00000148444			23332	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 8"	C10orf8		11042152, 15799966	Standard	NM_012071		Approved	BUP		Q9UBI1	OTTHUMG00000017806	ENST00000376836.3:c.23A>G	10.37:g.22605369A>G	ENSP00000366032:p.Gln8Arg		D3DRU7|Q5T8Y9	Missense_Mutation	SNP	ENST00000376836.3	37	CCDS7137.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809737	0.70797	.	.	ENSG00000148444	ENST00000376836;ENST00000376776;ENST00000376787	T	0.45668	0.89	4.94	3.79	0.43588	.	0.321788	0.29424	N	0.012192	T	0.44008	0.1273	M	0.66939	2.045	0.34890	D	0.745454	P;P	0.48911	0.917;0.917	B;B	0.44315	0.353;0.446	T	0.61207	-0.7109	10	0.66056	D	0.02	-5.7731	10.4419	0.44471	0.8537:0.0:0.0:0.1463	.	8;8	Q9UBI1;E9PC68	COMD3_HUMAN;.	R	8	ENSP00000366032:Q8R	ENSP00000365968:Q8R	Q	+	2	0	COMMD3	22645375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.589000	0.61006	0.984000	0.38629	0.533000	0.62120	CAG		0.672	COMMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047159.1	NM_012071		G	22605369	A	G	22605369	3	3	599	1	0	0	0	0	1	0	0	0	3719	188	7	3	25	3	COMMD3	10	22605369	Missense_Mutation	SNP	A	TCGA-CZ-5467-01A-01D-1501-10		22605369	112929378	28	32776											
ARMC4	55130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	28274097	28274097	+	Silent	SNP	A	A	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr10:28274097A>G	ENST00000305242.5	-	4	518	c.426T>C	c.(424-426)aaT>aaC	p.N142N	ARMC4_ENST00000239715.3_5'UTR|ARMC4_ENST00000537576.1_5'Flank	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	142					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.N142N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTTTCATTGTATTATAATCAG	0.318																																																1	Substitution - coding silent(1)	kidney(1)											44	41	42					10																	28274097		2201	4297	6498	SO:0001819	synonymous_variant	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.426T>C	10.37:g.28274097A>G			A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	CCDS7157.1																																																																																				0.318	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		G	28274097	A	G	28274097	2	3	599	1	0	0	0	0	0	0	0	1	953	446	16	3		3	ARMC4	10	28274097	Silent	SNP	A	TCGA-CZ-5467-01A-01D-1501-10	5668728	28274097	107260650	29	32777											
ALDH18A1	5832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	97373858	97373858	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr10:97373858T>C	ENST00000371224.2	-	14	1803	c.1666A>G	c.(1666-1668)Att>Gtt	p.I556V	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.I554V	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	556	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)	p.I556V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CCACGTGGAATGATCAGATCT	0.448																																																1	Substitution - Missense(1)	kidney(1)											204	206	205					10																	97373858		2203	4300	6503	SO:0001583	missense	5832			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1666A>G	10.37:g.97373858T>C	ENSP00000360268:p.Ile556Val		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920533	0.73213	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.75589	-0.95;-0.95	5.5	5.5	0.81552	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Gamma-glutamyl phosphate reductase GPR (1);	0.000000	0.85682	D	0.000000	T	0.79724	0.4495	M	0.80332	2.49	0.80722	D	1	B;B	0.30542	0.284;0.241	B;B	0.39617	0.305;0.145	T	0.80770	-0.1234	10	0.66056	D	0.02	-13.8342	13.5609	0.61788	0.0:0.0:0.0:1.0	.	556;554	P54886;P54886-2	P5CS_HUMAN;.	V	556;554	ENSP00000360268:I556V;ENSP00000360265:I554V	ENSP00000360265:I554V	I	-	1	0	ALDH18A1	97363848	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	7.506000	0.81665	2.092000	0.63282	0.533000	0.62120	ATT		0.448	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		C	97373858	T	C	97373858	3	2	599	1	0	0	0	0	1	0	0	0	489	1464	51	3	741	3	ALDH18A1	10	97373858	Missense_Mutation	SNP	T	TCGA-CZ-5467-01A-01D-1501-10	69099761	97373858	38160889	30	32778											
HPSE2	60495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	100904018	100904018	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr10:100904018G>A	ENST00000370552.3	-	3	646	c.587C>T	c.(586-588)aCt>aTt	p.T196I	HPSE2_ENST00000370546.1_Missense_Mutation_p.T196I|HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370549.1_Missense_Mutation_p.T196I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	196					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.T196I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATTACTGTAAGTATTGGAGAA	0.433																																																2	Substitution - Missense(2)	kidney(2)											101	97	98					10																	100904018		2203	4300	6503	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.587C>T	10.37:g.100904018G>A	ENSP00000359583:p.Thr196Ile		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354336	0.41700	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546	T;T;T	0.31769	1.54;1.48;1.54	5.97	5.97	0.96955	Glycoside hydrolase, superfamily (1);	0.060855	0.64402	D	0.000005	T	0.18923	0.0454	N	0.03115	-0.41	0.80722	D	1	B;B;B	0.17038	0.007;0.02;0.009	B;B;B	0.17722	0.011;0.011;0.019	T	0.09840	-1.0656	10	0.36615	T	0.2	-8.0036	20.4062	0.99009	0.0:0.0:1.0:0.0	.	196;196;196	Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;HPSE2_HUMAN	I	196	ENSP00000359583:T196I;ENSP00000359580:T196I;ENSP00000359577:T196I	ENSP00000359577:T196I	T	-	2	0	HPSE2	100894008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.215000	0.77966	2.831000	0.97527	0.655000	0.94253	ACT		0.433	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		A	100904018	G	A	100904018	3	1	599	1	0	0	0	0	1	0	0	0	7347	1029	36	2	1269	2	HPSE2	10	100904018	Missense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10	3530160	100904018	34630729	31	32779											
TRAF6	7189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	36514141	36514141	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr11:36514141delG	ENST00000526995.1	-	6	962	c.716delC	c.(715-717)ccafs	p.P239fs	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Frame_Shift_Del_p.P239fs	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	239	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCATGGAATTGGGGCTGTAGG	0.323																																																0													142	145	144					11																	36514141		2202	4298	6500	SO:0001589	frameshift_variant	7189				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.716delC	11.37:g.36514141delG	ENSP00000433623:p.Pro239fs		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Frame_Shift_Del	DEL	ENST00000526995.1	37	CCDS7901.1																																																																																				0.323	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		-	36514141	G	-	36514141	7	5	599	1	0	1	0	1	0	0	0	0	16450	1348	47	0	860	0	TRAF6	11	36514141	Frame_Shift_Del	DEL	G	TCGA-CZ-5467-01A-01D-1501-10		36514141	98492375	32	32780											
OR5J2	282775	hgsc.bcm.edu;ucsc.edu	37	11	55944758	55944759	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr11:55944758_55944759insT	ENST00000312298.1	+	1	665_666	c.665_666insT	c.(664-669)gcttttfs	p.AF222fs		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATCTTCATTGCTTTTGCTAGCC	0.475																																																0																																										SO:0001589	frameshift_variant	282775			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.669dupT	11.37:g.55944762_55944762dupT	ENSP00000310788:p.Ala222fs		Q6IEU5	Frame_Shift_Ins	INS	ENST00000312298.1	37	CCDS31522.1																																																																																				0.475	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		T	55944759	-	T	55944758	7	5	599	1	0	1	1	0	0	0	0	0	11167	797	28	0	667	0	OR5J2	11	55944758	Frame_Shift_Ins	INS	-	TCGA-CZ-5467-01A-01D-1501-10	19430617	55944758	79061758	33	32781											
INCENP	3619	broad.mit.edu	37	11	61897352	61897352	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr11:61897352G>A	ENST00000394818.3	+	4	555	c.353G>A	c.(352-354)gGc>gAc	p.G118D	INCENP_ENST00000278849.4_Missense_Mutation_p.G118D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	118					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)		p.G118D(2)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGGGAGAACGGCTCCGTCCTG	0.642																																																2	Substitution - Missense(2)	kidney(2)											50	52	51					11																	61897352		2202	4299	6501	SO:0001583	missense	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.353G>A	11.37:g.61897352G>A	ENSP00000378295:p.Gly118Asp		A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559136	0.27827	.	.	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.22539	2.54;1.95;2.54	4.52	4.52	0.55395	.	0.264242	0.27076	N	0.021060	T	0.40522	0.1120	M	0.62723	1.935	0.28211	N	0.926927	D;D;D	0.76494	0.998;0.999;0.998	P;D;P	0.67548	0.852;0.952;0.896	T	0.17561	-1.0365	10	0.56958	D	0.05	.	12.6383	0.56694	0.0:0.0:1.0:0.0	.	118;118;118	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	D	118	ENSP00000378295:G118D;ENSP00000433100:G118D;ENSP00000278849:G118D	ENSP00000278849:G118D	G	+	2	0	INCENP	61653928	0.928000	0.31464	0.299000	0.25016	0.140000	0.21249	1.189000	0.32114	2.350000	0.79820	0.561000	0.74099	GGC		0.642	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		A	61897352	G	A	61897352	3	1	599	1	0	0	0	0	1	0	0	0	7735	1203	42	2	363	2	INCENP	11	61897352	Missense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10	5952594	61897352	73109164	34	32782											
ARHGAP20	57569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	110451792	110451792	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr11:110451792G>T	ENST00000260283.4	-	16	2162	c.1878C>A	c.(1876-1878)gaC>gaA	p.D626E	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D600E|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D603E|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D169E|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D600E|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D590E|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D590E	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	626					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D626E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCTCGGGCTGGTCAAGATCAT	0.483																																																1	Substitution - Missense(1)	kidney(1)											100	94	96					11																	110451792		2201	4298	6499	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1878C>A	11.37:g.110451792G>T	ENSP00000260283:p.Asp626Glu		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	2.338	-0.351838	0.05173	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.08102	3.13;3.13;3.19;3.13;3.14;3.13;3.14	5.63	-1.19	0.09585	.	0.198325	0.40908	N	0.000986	T	0.04182	0.0116	L	0.28115	0.83	0.23696	N	0.997081	B;B;B	0.21309	0.054;0.032;0.054	B;B;B	0.21546	0.035;0.016;0.035	T	0.39800	-0.9596	10	0.18710	T	0.47	.	3.3479	0.07142	0.1981:0.2911:0.4092:0.1015	.	600;626;603	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	E	626;600;169;603;590;600;590	ENSP00000260283:D626E;ENSP00000349660:D600E;ENSP00000437905:D169E;ENSP00000432076:D603E;ENSP00000436319:D590E;ENSP00000436522:D600E;ENSP00000431399:D590E	ENSP00000260283:D626E	D	-	3	2	ARHGAP20	109957002	1.000000	0.71417	0.625000	0.29200	0.023000	0.10783	1.514000	0.35834	-0.164000	0.10927	-0.150000	0.13652	GAC		0.483	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		T	110451792	G	T	110451792	3	4	599	1	0	0	0	0	1	0	0	0	870	1252	44	4	1701	4	ARHGAP20	11	110451792	Missense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10	48554440	110451792	24554724	35	32783											
ACVR1B	91	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52374764	52374764	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr12:52374764T>G	ENST00000257963.4	+	4	669	c.592T>G	c.(592-594)Ttt>Gtt	p.F198V	ACVR1B_ENST00000542485.1_Missense_Mutation_p.F146V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.F198V|ACVR1B_ENST00000541224.1_Missense_Mutation_p.F198V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.F198V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	198	GS. {ECO:0000255|PROSITE- ProRule:PRU00585}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.F198V(2)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GTTACCCCTCTTTGTCCAGCG	0.498											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	kidney(2)											64	59	61					12																	52374764		2203	4300	6503	SO:0001583	missense	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.592T>G	12.37:g.52374764T>G	ENSP00000257963:p.Phe198Val	984	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592878	0.46214	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	4.94	4.94	0.65067	Protein kinase-like domain (1);TGF beta receptor, GS motif (3);	0.000000	0.85682	D	0.000000	D	0.91882	0.7430	L	0.44542	1.39	0.58432	D	0.999999	B;B;B;B	0.24721	0.058;0.11;0.049;0.094	B;B;B;B	0.35971	0.064;0.215;0.064;0.113	D	0.90732	0.4643	10	0.87932	D	0	.	14.9281	0.70896	0.0:0.0:0.0:1.0	.	198;198;198;198	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	V	198;198;198;198;146	ENSP00000257963:F198V;ENSP00000442656:F198V;ENSP00000390477:F198V;ENSP00000397550:F198V;ENSP00000442885:F146V	ENSP00000257963:F198V	F	+	1	0	ACVR1B	50661031	0.935000	0.31712	0.990000	0.47175	0.925000	0.55904	1.460000	0.35244	1.993000	0.58246	0.528000	0.53228	TTT		0.498	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		G	52374764	T	G	52374764	3	3	599	1	0	0	0	0	1	0	0	0	221	1609	56	5	606	5	ACVR1B	12	52374764	Missense_Mutation	SNP	T	TCGA-CZ-5467-01A-01D-1501-10		52374764	81477131	36	32784											
ITGB7	3695	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53594099	53594099	+	Silent	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr12:53594099C>T	ENST00000267082.5	-	3	360	c.129G>A	c.(127-129)ggG>ggA	p.G43G	ITGB7_ENST00000422257.3_Silent_p.G43G|ITGB7_ENST00000550743.2_Silent_p.G43G|ITGB7_ENST00000338737.4_Silent_p.G43G	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	43					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.G43G(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGGCAGGACCCCAGCATGG	0.582																																																1	Substitution - coding silent(1)	kidney(1)											95	81	86					12																	53594099		2203	4300	6503	SO:0001819	synonymous_variant	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.129G>A	12.37:g.53594099C>T			Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	CCDS8849.1																																																																																				0.582	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			T	53594099	C	T	53594099	2	4	599	1	0	0	0	0	0	0	0	1	7902	494	18	2		2	ITGB7	12	53594099	Silent	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	1219335	53594099	80257796	37	32785											
NT5DC3	51559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104179176	104179176	+	Silent	SNP	C	C	A	rs61752308		TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr12:104179176C>A	ENST00000392876.3	-	12	1306	c.1266G>T	c.(1264-1266)acG>acT	p.T422T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	422						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.T347T(2)|p.T422T(2)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TGTATTGCTCCGTGTTCATGA	0.423																																																4	Substitution - coding silent(4)	lung(2)|kidney(2)											242	201	215					12																	104179176		2203	4300	6503	SO:0001819	synonymous_variant	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1266G>T	12.37:g.104179176C>A			Q9NUM7|Q9P2T2|Q9P2T3	Silent	SNP	ENST00000392876.3	37	CCDS41824.1																																																																																				0.423	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		A	104179176	C	A	104179176	2	1	599	1	0	0	0	0	0	0	0	1	10694	639	23	4		4	NT5DC3	12	104179176	Silent	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	50585077	104179176	29672719	38	32786											
GPC5	2262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	92345927	92345927	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr13:92345927T>A	ENST00000377067.3	+	3	1184	c.812T>A	c.(811-813)aTg>aAg	p.M271K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	271					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.M271K(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGCCTTGTATGGGATACTGC	0.547																																																1	Substitution - Missense(1)	kidney(1)											95	84	88					13																	92345927		2203	4300	6503	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.812T>A	13.37:g.92345927T>A	ENSP00000366267:p.Met271Lys		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	T	2.270	-0.367316	0.05069	.	.	ENSG00000179399	ENST00000377067	T	0.49720	0.77	5.45	5.45	0.79879	Glypican, conserved site (1);	0.124980	0.64402	D	0.000001	T	0.42944	0.1225	L	0.48642	1.525	0.36134	D	0.846355	B	0.19200	0.034	B	0.34346	0.18	T	0.47381	-0.9122	10	0.19147	T	0.46	-0.0487	9.283	0.37740	0.0:0.0802:0.0:0.9198	.	271	P78333	GPC5_HUMAN	K	271	ENSP00000366267:M271K	ENSP00000366267:M271K	M	+	2	0	GPC5	91143928	1.000000	0.71417	0.997000	0.53966	0.729000	0.41735	2.232000	0.43018	2.075000	0.62263	0.477000	0.44152	ATG		0.547	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		A	92345927	T	A	92345927	3	1	599	1	0	0	0	0	1	0	0	0	6603	1464	51	5	822	5	GPC5	13	92345927	Missense_Mutation	SNP	T	TCGA-CZ-5467-01A-01D-1501-10		92345927	22823951	39	32787											
GPC6	10082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	94482723	94482723	+	Silent	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr13:94482723C>T	ENST00000377047.4	+	3	1251	c.636C>T	c.(634-636)acC>acT	p.T212T	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	212					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.T212T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TTCAGGTTACCCGCGCCTTCA	0.493																																																1	Substitution - coding silent(1)	kidney(1)											61	58	59					13																	94482723		2203	4300	6503	SO:0001819	synonymous_variant	10082			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.636C>T	13.37:g.94482723C>T			A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	ENST00000377047.4	37	CCDS9469.1																																																																																				0.493	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		T	94482723	C	T	94482723	2	4	599	1	0	0	0	0	0	0	0	1	6604	610	22	2		2	GPC6	13	94482723	Silent	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	2136796	94482723	20687155	40	32788											
SAMD4A	23034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55218223	55218223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr14:55218223G>T	ENST00000554335.1	+	6	1807	c.1144G>T	c.(1144-1146)Gaa>Taa	p.E382*	SAMD4A_ENST00000251091.5_Nonsense_Mutation_p.E294*|SAMD4A_ENST00000357634.3_Nonsense_Mutation_p.E381*|SAMD4A_ENST00000392067.3_Nonsense_Mutation_p.E382*			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	382	SAM.				negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.E381*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GAAGCTCAAAGAAAGACAAAA	0.328																																																1	Substitution - Nonsense(1)	kidney(1)											107	115	112					14																	55218223		2203	4300	6503	SO:0001587	stop_gained	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1144G>T	14.37:g.55218223G>T	ENSP00000452535:p.Glu382*		A8MPZ5|Q0VA96|Q6PEW4	Nonsense_Mutation	SNP	ENST00000554335.1	37	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	G	38	6.891014	0.97912	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-14.7349	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	382;382;294;293;381	.	ENSP00000306381:E294X	E	+	1	0	SAMD4A	54287973	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.444000	0.97578	2.894000	0.99253	0.655000	0.94253	GAA		0.328	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		T	55218223	G	T	55218223	4	4	599	1	0	0	0	0	0	1	0	0	13827	943	33	4	1159	4	SAMD4A	14	55218223	Nonsense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10		55218223	52131317	41	32789											
RYR3	6263	broad.mit.edu;ucsc.edu	37	15	33916176	33916176	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr15:33916176G>T	ENST00000389232.4	+	20	2596	c.2526G>T	c.(2524-2526)caG>caT	p.Q842H	RYR3_ENST00000415757.3_Missense_Mutation_p.Q842H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	842	4 X approximate repeats.				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)	p.Q842H(1)		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)		GTACCACCCAGTTCCTCTCCC	0.463																																																1	Substitution - Missense(1)	kidney(1)											165	159	161					15																	33916176		1877	4115	5992	SO:0001583	missense	6263				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.2526G>T	15.37:g.33916176G>T	ENSP00000373884:p.Gln842His		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195945	0.38806	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96619	-4.07;-4.07	4.86	2.99	0.34606	.	0.434432	0.22942	N	0.053772	D	0.90793	0.7109	N	0.19112	0.55	0.42499	D	0.992922	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	D	0.85068	0.0938	10	0.42905	T	0.14	.	9.2542	0.37573	0.234:0.0:0.766:0.0	.	842;842	Q15413-2;Q15413	.;RYR3_HUMAN	H	842	ENSP00000373884:Q842H;ENSP00000399610:Q842H	ENSP00000354735:Q842H	Q	+	3	2	RYR3	31703468	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.467000	0.22035	0.653000	0.30826	0.563000	0.77884	CAG		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			T	33916176	G	T	33916176	3	4	599	1	0	0	0	0	1	0	0	0	13776	1020	36	4	2604	4	RYR3	15	33916176	Missense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10		33916176	68615216	42	32790											
RPUSD2	27079	broad.mit.edu;ucsc.edu	37	15	40866002	40866002	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr15:40866002T>G	ENST00000315616.7	+	3	1218	c.1180T>G	c.(1180-1182)Tgg>Ggg	p.W394G	RPUSD2_ENST00000559271.1_Missense_Mutation_p.W333G	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	394					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.W394G(1)		kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		CTCAGTTGCCTGGGGTCCTTC	0.592																																																1	Substitution - Missense(1)	kidney(1)											62	55	58					15																	40866002		2203	4300	6503	SO:0001583	missense	27079			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"RNA pseudouridylate synthase domain containing"	24180	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 19"	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.1180T>G	15.37:g.40866002T>G	ENSP00000323288:p.Trp394Gly		B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.105763	0.77096	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.21031	2.03	5.36	5.36	0.76844	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	M	0.88570	2.965	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.61222	-0.7106	10	0.72032	D	0.01	-16.9228	15.1873	0.73012	0.0:0.0:0.0:1.0	.	394	Q8IZ73	RUSD2_HUMAN	G	394;373	ENSP00000323288:W394G	ENSP00000323288:W394G	W	+	1	0	RPUSD2	38653294	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.700000	0.84556	2.257000	0.74773	0.460000	0.39030	TGG		0.592	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		G	40866002	T	G	40866002	3	3	599	1	0	0	0	0	1	0	0	0	13673	1580	55	5	1190	5	RPUSD2	15	40866002	Missense_Mutation	SNP	T	TCGA-CZ-5467-01A-01D-1501-10	6949826	40866002	61665390	43	32791											
PRTG	283659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	55964783	55964783	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr15:55964783A>G	ENST00000389286.4	-	11	1948	c.1901T>C	c.(1900-1902)aTt>aCt	p.I634T		NM_173814.4	NP_776175.2			protogenin									p.I634T(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CCTCACAGAAATGGTGGTACA	0.453																																																1	Substitution - Missense(1)	kidney(1)											76	71	73					15																	55964783		1899	4120	6019	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1901T>C	15.37:g.55964783A>G	ENSP00000373937:p.Ile634Thr			Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626423	0.87560	.	.	ENSG00000166450	ENST00000389286	T	0.35605	1.3	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.475126	0.24922	N	0.034527	T	0.59059	0.2166	M	0.82823	2.61	0.80722	D	1	D	0.53619	0.961	P	0.57371	0.819	T	0.64837	-0.6313	10	0.62326	D	0.03	-21.73	15.035	0.71738	1.0:0.0:0.0:0.0	.	634	Q2VWP7	PRTG_HUMAN	T	634	ENSP00000373937:I634T	ENSP00000373937:I634T	I	-	2	0	PRTG	53752075	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	9.003000	0.93577	2.141000	0.66446	0.528000	0.53228	ATT		0.453	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		G	55964783	A	G	55964783	3	3	599	1	0	0	0	0	1	0	0	0	12643	101	4	3	1591	3	PRTG	15	55964783	Missense_Mutation	SNP	A	TCGA-CZ-5467-01A-01D-1501-10	15098781	55964783	46566609	44	32792											
MT1X	4501	broad.mit.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	56717110	56717111	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr16:56717110_56717111GC>AT	ENST00000394485.4	+	2	179_180	c.62_63GC>AT	c.(61-63)tGC>tAT	p.C21Y	MT1X_ENST00000562939.1_Missense_Mutation_p.C21Y|RP11-343H19.2_ENST00000567563.1_RNA	NM_005952.3	NP_005943.1	P80297	MT1X_HUMAN	metallothionein 1X	21	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to erythropoietin (GO:0036018)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)|response to metal ion (GO:0010038)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.C21Y(1)|p.C21C(1)		kidney(2)	2						TCCTGCAAATGCAAAGAGTGCA	0.554																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	4501			BC032338	CCDS10768.1	16q13	2010-10-20			ENSG00000187193	ENSG00000187193		"Metallothioneins"	7405	protein-coding gene	gene with protein product		156359		MT1		2286373, 8049263	Standard	NM_005952		Approved	MT-1l	uc002ejy.3	P80297	OTTHUMG00000133280	Exception_encountered	16.37:g.56717110_56717111delinsAT	ENSP00000377995:p.Cys21Tyr		A8MUC7	Missense_Mutation|Silent	SNP	ENST00000394485.4	37	CCDS10768.1																																																																																				0.554	MT1X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257060.1	NM_005952		AT	56717111	GC	AT	56717110	3	1	599	1	0	0	0	0	1	0	0	0	9906	1319	46	2	68	2	MT1X	16	56717110	Missense_Mutation	DNP	GC	TCGA-CZ-5467-01A-01D-1501-10		56717110	33637643	45	32793											
MPHOSPH6	10200	hgsc.bcm.edu;ucsc.edu	37	16	82185072	82185074	+	In_Frame_Del	DEL	AGA	AGA	-	rs370786041|rs370510103		TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr16:82185072_82185074delAGA	ENST00000258169.4	-	3	260_262	c.210_212delTCT	c.(208-213)cttctc>ctc	p.70_71LL>L	MPHOSPH6_ENST00000563504.1_In_Frame_Del_p.41_42LL>L	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	70					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						TCTTCCATAGAGAAGATCTTCAC	0.286																																																0																																										SO:0001651	inframe_deletion	10200			X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.210_212delTCT	16.37:g.82185075_82185077delAGA	ENSP00000258169:p.Leu71del		B2RAF0	In_Frame_Del	DEL	ENST00000258169.4	37	CCDS10937.1																																																																																				0.286	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1	NM_005792		-	82185074	AGA	-	82185072	7	5	599	1	0	1	0	1	0	0	0	0	9728	304	11	0	282	0	MPHOSPH6	16	82185072	In_Frame_Del	DEL	AGA	TCGA-CZ-5467-01A-01D-1501-10	25467962	82185072	8169681	46	32794											
ZCCHC14	23174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	87493727	87493727	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr16:87493727C>G	ENST00000268616.4	-	2	387	c.170G>C	c.(169-171)aGa>aCa	p.R57T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	57							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.R57T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGCCTCAGTTCTTGGAGTGAT	0.448																																																1	Substitution - Missense(1)	kidney(1)											121	117	118					16																	87493727		2198	4300	6498	SO:0001583	missense	23174			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.170G>C	16.37:g.87493727C>G	ENSP00000268616:p.Arg57Thr		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268572	0.40095	.	.	ENSG00000140948	ENST00000268616	T	0.19938	2.11	5.31	5.31	0.75309	.	0.121221	0.56097	D	0.000028	T	0.44498	0.1296	L	0.60455	1.87	0.35157	D	0.770329	D	0.63880	0.993	D	0.72338	0.977	T	0.54970	-0.8213	10	0.66056	D	0.02	-29.4731	17.7643	0.88473	0.0:1.0:0.0:0.0	.	57	Q8WYQ9	ZCH14_HUMAN	T	57	ENSP00000268616:R57T	ENSP00000268616:R57T	R	-	2	0	ZCCHC14	86051228	0.880000	0.30214	0.012000	0.15200	0.003000	0.03518	4.742000	0.62103	2.487000	0.83934	0.655000	0.94253	AGA		0.448	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		G	87493727	C	G	87493727	3	3	599	1	0	0	0	0	1	0	0	0	17588	913	32	4	2727	4	ZCCHC14	16	87493727	Missense_Mutation	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	5308655	87493727	2861026	47	32795											
TMEM199	147007	broad.mit.edu;ucsc.edu	37	17	26686415	26686415	+	Silent	SNP	C	C	T	rs376471654		TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr17:26686415C>T	ENST00000292114.3	+	3	453	c.363C>T	c.(361-363)aaC>aaT	p.N121N	MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Silent_p.N121N|POLDIP2_ENST00000540200.1_5'Flank|POLDIP2_ENST00000003607.4_5'Flank|TMEM199_ENST00000581386.1_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.7_ENST00000577850.1_RNA|TMEM199_ENST00000395404.3_5'UTR	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	121						integral component of membrane (GO:0016021)		p.N121N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCACCCGCAACGTCACTTGTC	0.468																																																1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	92	76	82		363	2	1	17		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM199	NM_152464.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/209	26686415	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23098			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.363C>T	17.37:g.26686415C>T				Silent	SNP	ENST00000292114.3	37	CCDS11228.1																																																																																				0.468	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		T	26686415	C	T	26686415	2	4	599	1	0	0	0	0	0	0	0	1	16125	535	19	1		1	TMEM199	17	26686415	Silent	SNP	C	TCGA-CZ-5467-01A-01D-1501-10		26686415	54508795	48	32796											
TAF15	8148	hgsc.bcm.edu	37	17	34171703	34171726	+	In_Frame_Del	DEL	GAGGAGGCGGCTATGGAGGAGACC	GAGGAGGCGGCTATGGAGGAGACC	-	rs543739946|rs569473616|rs187380389|rs577544142|rs140484493|rs181978759|rs560641478	byFrequency	TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	GAGGAGGCGGCTATGGAGGAGACC	GAGGAGGCGGCTATGGAGGAGACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr17:34171703_34171726delGAGGAGGCGGCTATGGAGGAGACC	ENST00000588240.1	+	15	1515_1538	c.1400_1423delGAGGAGGCGGCTATGGAGGAGACC	c.(1399-1425)agaggaggcggctatggaggagaccga>aga	p.467_475RGGGYGGDR>R	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_In_Frame_Del_p.464_472RGGGYGGDR>R	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G469R(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggtggggacagaggaggcggctatggaggagaccgaggaggtgg	0.621			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																		Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1400_1423delGAGGAGGCGGCTATGGAGGAGACC	17.37:g.34171703_34171726delGAGGAGGCGGCTATGGAGGAGACC	ENSP00000466950:p.Arg475_Asp482del		D3DPM5|Q15775|Q5T077	In_Frame_Del	DEL	ENST00000588240.1	37	CCDS32623.1																																																																																				0.621	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		-	34171726	GAGGAGGCGGCTATGGAGGAGACC	-	34171703	7	5	599	1	0	1	0	1	0	0	0	0	15523	942	33	0	1458	0	TAF15	17	34171703	In_Frame_Del	DEL	GAGGAGGCGGCTATGGAGGAGACC	TCGA-CZ-5467-01A-01D-1501-10	7485288	34171703	47023507	49	32797											
HOXB6	3216	broad.mit.edu;ucsc.edu	37	17	46673821	46673821	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr17:46673821G>A	ENST00000484302.2	-	3	1251	c.629C>T	c.(628-630)gCg>gTg	p.A210V	HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.A210V|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB5_ENST00000239151.5_5'Flank|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB6_ENST00000490419.1_5'Flank|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000460041.1_RNA			P17509	HXB6_HUMAN	homeobox B6	210					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A210V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAGCTGAGACGCGCTGAGCAG	0.592																																																1	Substitution - Missense(1)	kidney(1)											203	175	185					17																	46673821		2203	4300	6503	SO:0001583	missense	3216				CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"Homeoboxes / ANTP class : HOXL subclass"	5117	protein-coding gene	gene with protein product		142961	"homeo box B6"	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.629C>T	17.37:g.46673821G>A	ENSP00000420009:p.Ala210Val		A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Missense_Mutation	SNP	ENST00000484302.2	37	CCDS11531.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158237	0.57368	.	.	ENSG00000108511	ENST00000484302;ENST00000225648	D;D	0.90844	-2.74;-2.74	4.52	4.52	0.55395	.	0.413681	0.21970	N	0.066464	D	0.82527	0.5056	N	0.16066	0.365	0.33646	D	0.607829	B	0.27679	0.185	B	0.14578	0.011	D	0.84307	0.0508	10	0.41790	T	0.15	.	17.027	0.86450	0.0:0.0:1.0:0.0	.	210	P17509	HXB6_HUMAN	V	210	ENSP00000420009:A210V;ENSP00000225648:A210V	ENSP00000225648:A210V	A	-	2	0	HOXB6	44028820	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.581000	0.82535	2.329000	0.79093	0.563000	0.77884	GCG		0.592	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358146.2			A	46673821	G	A	46673821	3	1	599	1	0	0	0	0	1	0	0	0	7307	1087	38	1	49	1	HOXB6	17	46673821	Missense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10	12502118	46673821	34521389	50	32798											
RPS6KB1	6198	broad.mit.edu;hgsc.bcm.edu	37	17	58022845	58022845	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr17:58022845C>T	ENST00000225577.4	+	14	1327	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	RPS6KB1_ENST00000393021.3_Nonsense_Mutation_p.R383*|RPS6KB1_ENST00000443572.2_Nonsense_Mutation_p.R413*|RPS6KB1_ENST00000406116.3_Nonsense_Mutation_p.R436*|RP11-178C3.1_ENST00000591035.1_Nonsense_Mutation_p.R39*	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	436	Autoinhibitory domain.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.R436*(2)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CCGATCACCTCGAAGATTTAT	0.373																																																2	Substitution - Nonsense(2)	ovary(1)|kidney(1)											64	56	59					17																	58022845		2203	4299	6502	SO:0001587	stop_gained	6198			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"ribosomal protein S6 kinase, 70kD, polypeptide 1"	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.1306C>T	17.37:g.58022845C>T	ENSP00000225577:p.Arg436*		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Nonsense_Mutation	SNP	ENST00000225577.4	37	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	C	37	6.080649	0.97267	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577;ENST00000393021	.	.	.	5.3	3.25	0.37280	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.413	0.67128	0.2684:0.7316:0.0:0.0	.	.	.	.	X	413;436;436;383	.	ENSP00000225577:R436X	R	+	1	2	RPS6KB1	55377627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.691000	0.68249	0.569000	0.29329	0.655000	0.94253	CGA		0.373	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		T	58022845	C	T	58022845	4	4	599	1	0	0	0	0	0	1	0	0	13662	876	31	1	1360	1	RPS6KB1	17	58022845	Nonsense_Mutation	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	11349024	58022845	23172365	51	32799											
CHST9	83539	broad.mit.edu;hgsc.bcm.edu	37	18	24496333	24496333	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr18:24496333G>C	ENST00000284224.8	-	6	1499	c.1222C>G	c.(1222-1224)Caa>Gaa	p.Q408E	AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Missense_Mutation_p.Q408E	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	408					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.Q408E(1)|p.Q323E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTCACGACTTGAGCATTGGTT	0.358																																																2	Substitution - Missense(2)	kidney(2)											147	136	139					18																	24496333		1841	4091	5932	SO:0001583	missense	83539			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1222C>G	18.37:g.24496333G>C	ENSP00000284224:p.Gln408Glu		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	G	3.515	-0.098949	0.07010	.	.	ENSG00000154080	ENST00000284224	T	0.72615	-0.67	6.07	4.22	0.49857	.	0.465278	0.21663	N	0.070984	T	0.36580	0.0972	N	0.01751	-0.74	0.28818	N	0.89783	B	0.09022	0.002	B	0.14023	0.01	T	0.33904	-0.9850	10	0.02654	T	1	-6.8165	7.7983	0.29160	0.0:0.2611:0.5081:0.2308	.	408	Q7L1S5	CHST9_HUMAN	E	408	ENSP00000284224:Q408E	ENSP00000284224:Q408E	Q	-	1	0	CHST9	22750331	0.990000	0.36364	0.696000	0.30242	0.869000	0.49853	2.597000	0.46214	1.526000	0.49068	0.655000	0.94253	CAA		0.358	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		C	24496333	G	C	24496333	3	2	599	1	0	0	0	0	1	0	0	0	3413	1299	45	4	113	4	CHST9	18	24496333	Missense_Mutation	SNP	G	TCGA-CZ-5467-01A-01D-1501-10		24496333	53580915	52	32800											
ZBTB7C	201501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	45567044	45567044	+	Silent	SNP	G	G	A	rs144374638	byFrequency	TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr18:45567044G>A	ENST00000588982.1	-	3	936	c.435C>T	c.(433-435)gaC>gaT	p.D145D	ZBTB7C_ENST00000586438.1_Silent_p.D145D|ZBTB7C_ENST00000590800.1_Silent_p.D145D|ZBTB7C_ENST00000332053.2_Silent_p.D145D|ZBTB7C_ENST00000535628.2_Silent_p.D145D			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	145	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D145D(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						catcatcttcgtcgtcgtcat	0.567													G|||	5	0.000998403	0.0038	0.0	5008	,	,		21232	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	170	123	139		435	-3.8	0.2	18	dbSNP_134	139	0,8600		0,0,4300	no	coding-synonymous	ZBTB7C	NM_001039360.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		145/620	45567044	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201501			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.435C>T	18.37:g.45567044G>A			O73453	Silent	SNP	ENST00000588982.1	37	CCDS32830.1																																																																																				0.567	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		A	45567044	G	A	45567044	2	1	599	1	0	0	0	0	0	0	0	1	17560	1136	40	1		1	ZBTB7C	18	45567044	Silent	SNP	G	TCGA-CZ-5467-01A-01D-1501-10	21070711	45567044	32510204	53	32801											
DBP	1628	broad.mit.edu	37	19	49134131	49134131	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr19:49134131A>T	ENST00000222122.5	-	4	1384	c.941T>A	c.(940-942)gTg>gAg	p.V314E	DBP_ENST00000593500.1_Missense_Mutation_p.V112E|DBP_ENST00000599385.1_Missense_Mutation_p.V112E	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	314	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	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 regulatory region sequence-specific DNA binding (GO:0000977)	p.V314E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCGGGACAGCACGGCGCGGTA	0.672																																																1	Substitution - Missense(1)	kidney(1)											16	19	18					19																	49134131		2200	4298	6498	SO:0001583	missense	1628			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.941T>A	19.37:g.49134131A>T	ENSP00000222122:p.Val314Glu		A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621907	0.87460	.	.	ENSG00000105516	ENST00000222122	T	0.44881	0.91	4.28	4.28	0.50868	Basic-leucine zipper (bZIP) transcription factor (2);	0.079957	0.50627	U	0.000105	T	0.46600	0.1401	L	0.47716	1.5	0.47862	D	0.999537	D	0.53151	0.958	P	0.52109	0.69	T	0.49551	-0.8928	10	0.72032	D	0.01	-14.5292	11.6891	0.51505	1.0:0.0:0.0:0.0	.	314	Q10586	DBP_HUMAN	E	314	ENSP00000222122:V314E	ENSP00000222122:V314E	V	-	2	0	DBP	53825943	0.989000	0.36119	1.000000	0.80357	0.980000	0.70556	6.781000	0.75068	1.914000	0.55421	0.460000	0.39030	GTG		0.672	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		T	49134131	A	T	49134131	3	4	599	1	0	0	0	0	1	0	0	0	4258	159	6	5	40	5	DBP	19	49134131	Missense_Mutation	SNP	A	TCGA-CZ-5467-01A-01D-1501-10		49134131	9994852	54	32802											
NLRP2	55655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55489137	55489137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr19:55489137C>T	ENST00000543010.1	+	4	486	c.343C>T	c.(343-345)Cga>Tga	p.R115*	NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.R115*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.R92*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.R115*|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.R115*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.R115*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	115					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.R115*(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACGGAAAGAACGACCACCTCT	0.552																																																1	Substitution - Nonsense(1)	kidney(1)											135	111	119					19																	55489137		2203	4300	6503	SO:0001587	stop_gained	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.343C>T	19.37:g.55489137C>T	ENSP00000445135:p.Arg115*		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Nonsense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	9.650	1.141269	0.21205	.	.	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000263437;ENST00000397169	.	.	.	1.32	-2.65	0.06095	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	1.2233	0.01928	0.1635:0.4025:0.1609:0.2731	.	.	.	.	X	115;115;115;115;115;92;115;47	.	ENSP00000263437:R115X	R	+	1	2	NLRP2	60180949	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.409000	0.02483	-2.387000	0.00589	-2.841000	0.00105	CGA		0.552	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		T	55489137	C	T	55489137	4	4	599	1	0	0	0	0	0	1	0	0	10479	528	19	1	353	1	NLRP2	19	55489137	Nonsense_Mutation	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	6355006	55489137	3639846	55	32803											
NLRP9	338321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56243988	56243988	+	Silent	SNP	A	A	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr19:56243988A>T	ENST00000332836.2	-	2	1236	c.1209T>A	c.(1207-1209)atT>atA	p.I403I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.I403I(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TATATGTCCAAATTCCCTCTG	0.468																																																1	Substitution - coding silent(1)	kidney(1)											81	82	81					19																	56243988		2203	4300	6503	SO:0001819	synonymous_variant	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1209T>A	19.37:g.56243988A>T			B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	CCDS12934.1																																																																																				0.468	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		T	56243988	A	T	56243988	2	4	599	1	0	0	0	0	0	0	0	1	10486	10	1	5		5	NLRP9	19	56243988	Silent	SNP	A	TCGA-CZ-5467-01A-01D-1501-10	754851	56243988	2884995	56	32804											
TRPC4AP	26133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33595391	33595391	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr20:33595391C>T	ENST00000252015.2	-	14	1737	c.1648G>A	c.(1648-1650)Gca>Aca	p.A550T	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.A511T|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.A542T|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.A152T			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	550					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.A550T(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATCTGGTCTGCATAGGAGGTG	0.602																																																1	Substitution - Missense(1)	kidney(1)											105	98	100					20																	33595391		2203	4300	6503	SO:0001583	missense	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1648G>A	20.37:g.33595391C>T	ENSP00000252015:p.Ala550Thr		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757568	0.89843	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	L	0.45581	1.43	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.994	D;D;D	0.66716	0.946;0.946;0.946	T	0.47935	-0.9078	10	0.66056	D	0.02	.	18.796	0.91994	0.0:1.0:0.0:0.0	.	511;542;550	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	T	550;542;152;511;535	ENSP00000252015:A550T;ENSP00000400614:A542T;ENSP00000446090:A152T;ENSP00000400497:A511T	ENSP00000252015:A550T	A	-	1	0	TRPC4AP	33059052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.314000	0.78988	2.670000	0.90874	0.655000	0.94253	GCA		0.602	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		T	33595391	C	T	33595391	3	4	599	1	0	0	0	0	1	0	0	0	16586	710	25	2	769	2	TRPC4AP	20	33595391	Missense_Mutation	SNP	C	TCGA-CZ-5467-01A-01D-1501-10		33595391	29430129	57	32805											
SFRS15	57466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33074137	33074137	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr21:33074137A>T	ENST00000286835.7	-	6	934	c.552T>A	c.(550-552)gaT>gaA	p.D184E	SCAF4_ENST00000434667.3_Missense_Mutation_p.D169E|SCAF4_ENST00000399804.1_Missense_Mutation_p.D184E	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	184						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D184E(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CAGCAAAAGCATCAGAGCTGG	0.483																																																1	Substitution - Missense(1)	kidney(1)											96	92	93					21																	33074137		2203	4300	6503	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.552T>A	21.37:g.33074137A>T	ENSP00000286835:p.Asp184Glu		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946886	0.73672	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.52295	0.69;0.67;0.7	6.06	3.71	0.42584	.	0.098855	0.64402	D	0.000002	T	0.64724	0.2624	M	0.74258	2.255	0.53688	D	0.999971	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.83275	0.991;0.991;0.996;0.991	T	0.61594	-0.7031	10	0.37606	T	0.19	-20.2072	10.255	0.43392	0.8674:0.0:0.1326:0.0	.	169;184;184;184	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	E	169;184;184	ENSP00000402377:D169E;ENSP00000286835:D184E;ENSP00000382703:D184E	ENSP00000286835:D184E	D	-	3	2	SCAF4	31996008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.236000	0.51336	0.542000	0.28846	0.528000	0.53228	GAT		0.483	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		T	33074137	A	T	33074137	3	4	599	1	0	0	0	0	1	0	0	0	14177	214	8	5	2951	5	SFRS15	21	33074137	Missense_Mutation	SNP	A	TCGA-CZ-5467-01A-01D-1501-10		33074137	15055758	58	32806											
MICAL3	57553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	18376628	18376628	+	Silent	SNP	G	G	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr22:18376628G>A	ENST00000441493.2	-	11	1844	c.1492C>T	c.(1492-1494)Ctg>Ttg	p.L498L	MICAL3_ENST00000585038.1_Silent_p.L498L|MICAL3_ENST00000414725.2_Silent_p.L498L|MICAL3_ENST00000429452.1_Silent_p.L498L|MICAL3_ENST00000207726.7_Silent_p.L498L|MICAL3_ENST00000444520.1_Silent_p.L498L|MICAL3_ENST00000383094.3_Silent_p.L498L|MICAL3_ENST00000400561.2_Silent_p.L498L	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	498					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.L498L(3)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCATTTCCAGGTGAATATCT	0.423																																																3	Substitution - coding silent(3)	kidney(3)											18	19	19					22																	18376628		1567	3580	5147	SO:0001819	synonymous_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1492C>T	22.37:g.18376628G>A			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	CCDS46659.1																																																																																				0.423	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			A	18376628	G	A	18376628	2	1	599	1	0	0	0	0	0	0	0	1	9573	991	35	2		2	MICAL3	22	18376628	Silent	SNP	G	TCGA-CZ-5467-01A-01D-1501-10		18376628	32927938	59	32807											
RFPL2	10739	broad.mit.edu;hgsc.bcm.edu	37	22	32589043	32589043	+	Silent	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr22:32589043C>T	ENST00000400237.1	-	4	1337	c.402G>A	c.(400-402)ggG>ggA	p.G134G	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Silent_p.G44G|RFPL2_ENST00000248980.4_Silent_p.G73G|RFPL2_ENST00000400236.3_Silent_p.G44G			O75678	RFPL2_HUMAN	ret finger protein-like 2	134							zinc ion binding (GO:0008270)	p.G73G(1)|p.G134G(1)|p.G44G(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GTAGATCCTCCCCATGGGGCT	0.532																																																3	Substitution - coding silent(3)	kidney(3)											104	106	105					22																	32589043		2203	4300	6503	SO:0001819	synonymous_variant	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.402G>A	22.37:g.32589043C>T				Silent	SNP	ENST00000400237.1	37	CCDS43009.2																																																																																				0.532	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		T	32589043	C	T	32589043	2	4	599	1	0	0	0	0	0	0	0	1	13260	610	22	2		2	RFPL2	22	32589043	Silent	SNP	C	TCGA-CZ-5467-01A-01D-1501-10	14212415	32589043	18715523	60	32808											
CFP	5199	broad.mit.edu	37	X	47487501	47487501	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chrX:47487501C>T	ENST00000396992.3	-	3	523	c.403G>A	c.(403-405)Gag>Aag	p.E135K	CFP_ENST00000377005.2_Splice_Site_p.E135K|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Splice_Site_p.E135K	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	135					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.E135K(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TCCTCCTCACCAGGACAGCAC	0.642																																																1	Substitution - Missense(1)	kidney(1)											42	34	37					X																	47487501		2203	4300	6503	SO:0001630	splice_region_variant	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.403+1G>A	X.37:g.47487501C>T			O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606649	0.66558	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.40756	1.02;1.02;1.02	5.97	5.97	0.96955	.	0.320980	0.32884	N	0.005528	T	0.51719	0.1691	L	0.60067	1.865	0.47819	D	0.999528	P;P	0.47841	0.901;0.592	P;B	0.51701	0.677;0.314	T	0.46830	-0.9163	9	.	.	.	.	14.562	0.68148	0.0:1.0:0.0:0.0	.	71;135	B3KVK6;P27918	.;PROP_HUMAN	K	135	ENSP00000380189:E135K;ENSP00000247153:E135K;ENSP00000366204:E135K	.	E	-	1	0	CFP	47372445	0.999000	0.42202	0.998000	0.56505	0.076000	0.17211	4.383000	0.59600	2.517000	0.84864	0.600000	0.82982	GAG		0.642	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621	Missense_Mutation	T	47487501	C	T	47487501	5	4	599	1	0	0	0	0	0	0	1	0	3295	608	21	2	1034	2	CFP	23	47487501	Splice_Site	SNP	C	TCGA-CZ-5467-01A-01D-1501-10		47487501	107783059	61	32809											
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu	37	X	53246339	53246339	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chrX:53246339T>A	ENST00000375401.3	-	5	1175	c.643A>T	c.(643-645)Aga>Tga	p.R215*	KDM5C_ENST00000452825.3_Nonsense_Mutation_p.R148*|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.R215*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.R214*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.R174*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	215					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R148*(1)|p.R215*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGCTGCAGTCTCTTGGCCCGC	0.537			"N, F, S"		clear cell renal carcinoma																																		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Nonsense(2)	kidney(2)											124	90	102					X																	53246339		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.643A>T	X.37:g.53246339T>A	ENSP00000364550:p.Arg215*		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	T	43	10.421806	0.99402	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5415	8.7849	0.34814	0.0:0.0:0.1878:0.8122	.	.	.	.	X	148;215;214;215;174	.	ENSP00000364528:R215X	R	-	1	2	KDM5C	53263064	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.742000	0.68646	1.836000	0.53414	0.430000	0.28490	AGA		0.537	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		A	53246339	T	A	53246339	4	1	599	1	0	0	0	0	0	1	0	0	8137	1559	54	5	4225	5	KDM5C	23	53246339	Nonsense_Mutation	SNP	T	TCGA-CZ-5467-01A-01D-1501-10	5758838	53246339	102024221	62	32810											
ZNF449	203523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	134483227	134483227	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chrX:134483227T>A	ENST00000339249.4	+	3	687	c.547T>A	c.(547-549)Ttt>Att	p.F183I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	183					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F183I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCAGAACTTTCTGGACCC	0.522																																																1	Substitution - Missense(1)	kidney(1)											138	122	127					X																	134483227		2203	4300	6503	SO:0001583	missense	203523			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"-", "Zinc fingers, C2H2-type"	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.547T>A	X.37:g.134483227T>A	ENSP00000339585:p.Phe183Ile		Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.252853	0.22965	.	.	ENSG00000173275	ENST00000339249	T	0.05258	3.47	4.43	4.43	0.53597	.	0.175486	0.27841	N	0.017636	T	0.04318	0.0119	L	0.27053	0.805	0.80722	D	1	P	0.37781	0.608	B	0.32980	0.156	T	0.53464	-0.8435	10	0.23891	T	0.37	.	9.0761	0.36522	0.0:0.0:0.0:1.0	.	183	Q6P9G9	ZN449_HUMAN	I	183	ENSP00000339585:F183I	ENSP00000339585:F183I	F	+	1	0	ZNF449	134310893	0.988000	0.35896	0.807000	0.32361	0.352000	0.29268	3.017000	0.49615	1.965000	0.57142	0.486000	0.48141	TTT		0.522	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		A	134483227	T	A	134483227	3	1	599	1	0	0	0	0	1	0	0	0	17925	1609	56	5	553	5	ZNF449	23	134483227	Missense_Mutation	SNP	T	TCGA-CZ-5467-01A-01D-1501-10	81236888	134483227	20787333	63	32811											
KLHL17	339451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	900441	900441	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:900441G>A	ENST00000338591.3	+	12	1906	c.1799G>A	c.(1798-1800)aGg>aAg	p.R600K	PLEKHN1_ENST00000379410.3_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	600	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)	p.R600K(1)		central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TACAACCCGAGGACCAACAAG	0.632																																																1	Substitution - Missense(1)	kidney(1)											141	105	117					1																	900441		2202	4299	6501	SO:0001583	missense	339451			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1799G>A	1.37:g.900441G>A	ENSP00000343930:p.Arg600Lys		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839752	0.32513	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	T	0.77358	-1.09	5.82	4.85	0.62838	Galactose oxidase, beta-propeller (1);	0.111513	0.64402	D	0.000013	T	0.66396	0.2785	N	0.24115	0.695	0.80722	D	1	P	0.37573	0.6	B	0.39503	0.301	T	0.62671	-0.6805	10	0.15499	T	0.54	.	15.7091	0.77609	0.0:0.0:0.8626:0.1374	.	600	Q6TDP4	KLH17_HUMAN	K	600;476	ENSP00000343930:R600K	ENSP00000343930:R600K	R	+	2	0	KLHL17	890304	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	4.675000	0.61619	2.756000	0.94617	0.561000	0.74099	AGG		0.632	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		A	900441	G	A	900441	3	1	600	1	0	0	0	0	1	0	0	0	8374	1000	35	2	1845	2	KLHL17	1	900441	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10		900441	248350180	1	32812											
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19471346	19471346	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:19471346G>A	ENST00000375254.3	-	54	8028	c.8001C>T	c.(7999-8001)taC>taT	p.Y2667Y	UBR4_ENST00000375267.2_Silent_p.Y2667Y|UBR4_ENST00000375226.2_Silent_p.Y2678Y|UBR4_ENST00000375217.2_Silent_p.Y2695Y	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2667					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y2667Y(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACAGGTACAGTAGCCATGGA	0.428																																																1	Substitution - coding silent(1)	kidney(1)											149	127	134					1																	19471346		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8001C>T	1.37:g.19471346G>A			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19471346	G	A	19471346	2	1	600	1	0	0	0	0	0	0	0	1	16909	1024	36	2		2	UBR4	1	19471346	Silent	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	18570905	19471346	229779275	2	32813											
WDR65	149465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43649511	43649511	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:43649511G>A	ENST00000372492.4	+	4	1048	c.724G>A	c.(724-726)Ggc>Agc	p.G242S	WDR65_ENST00000528956.1_Missense_Mutation_p.G242S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		242								p.G242S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTACCAATGGCTCAAAGAG	0.483																																																1	Substitution - Missense(1)	kidney(1)											134	130	132					1																	43649511		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.724G>A	1.37:g.43649511G>A	ENSP00000361570:p.Gly242Ser		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37		.	.	.	.	.	.	.	.	.	.	G	11.06	1.527567	0.27299	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.05382	3.45;3.45	6.07	4.2	0.49525	Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	1.023860	0.07735	N	0.945995	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.15052	0.001;0.012	T	0.40496	-0.9560	10	0.06625	T	0.88	.	8.9202	0.35607	0.1601:0.0:0.8399:0.0	.	242;242	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	S	242	ENSP00000361570:G242S;ENSP00000435310:G242S	ENSP00000361570:G242S	G	+	1	0	WDR65	43422098	0.489000	0.26004	0.001000	0.08648	0.005000	0.04900	2.484000	0.45242	0.881000	0.35993	0.655000	0.94253	GGC		0.483	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			A	43649511	G	A	43649511	3	1	600	1	0	0	0	0	1	0	0	0	17321	1348	47	2	734	2	WDR65	1	43649511	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	24178165	43649511	205601110	3	32814											
MUTYH	4595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	45796197	45796197	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:45796197delC	ENST00000372098.3	-	15	1633	c.1500delG	c.(1498-1500)gggfs	p.G500fs	MUTYH_ENST00000528332.2_Frame_Shift_Del_p.G184fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.G486fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.G475fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.G476fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.G475fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.G475fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.G486fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.G489fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.G490fs|MUTYH_ENST00000528013.2_Frame_Shift_Del_p.G489fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000450313.1_Frame_Shift_Del_p.G503fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.G170fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.G170fs			Q9UIF7	MUTYH_HUMAN	mutY homolog	500			G -> E (in dbSNP:rs3219494). {ECO:0000269|Ref.4}.		base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCATACAGGTCCCTGGCTGTT	0.507			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													84	72	76					1																	45796197		2203	4300	6503	SO:0001589	frameshift_variant	4595	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1500delG	1.37:g.45796197delC	ENSP00000361170:p.Gly500fs		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Frame_Shift_Del	DEL	ENST00000372098.3	37	CCDS520.1																																																																																				0.507	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		-	45796197	C	-	45796197	7	5	600	1	0	1	0	1	0	0	0	0	9995	842	30	0	148	0	MUTYH	1	45796197	Frame_Shift_Del	DEL	C	TCGA-CZ-5468-01A-01D-1501-10	2146686	45796197	203454424	4	32815											
TOE1	114034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	45808092	45808092	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:45808092T>G	ENST00000372090.5	+	6	1112	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V	MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000531105.1_5'Flank|TESK2_ENST00000486676.1_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000450313.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.F97V|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372098.3_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	177						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.F177V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					ACGGACCCTATTCCTGGAGCT	0.562																																																1	Substitution - Missense(1)	kidney(1)											98	101	100					1																	45808092		2203	4300	6503	SO:0001583	missense	114034				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.529T>G	1.37:g.45808092T>G	ENSP00000361162:p.Phe177Val		B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	CCDS521.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831307	0.71258	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.22743	1.94;1.94	5.64	5.64	0.86602	Ribonuclease H-like (1);	0.095003	0.64402	D	0.000001	T	0.42200	0.1192	M	0.61703	1.905	0.80722	D	1	P;D;D	0.63880	0.91;0.993;0.993	P;P;P	0.61940	0.531;0.896;0.896	T	0.28170	-1.0052	10	0.62326	D	0.03	-13.0414	15.8714	0.79122	0.0:0.0:0.0:1.0	.	183;97;177	B4DP23;B4DEM6;Q96GM8	.;.;TOE1_HUMAN	V	177;97	ENSP00000361162:F177V;ENSP00000438900:F97V	ENSP00000361162:F177V	F	+	1	0	TOE1	45580679	1.000000	0.71417	0.996000	0.52242	0.727000	0.41649	6.251000	0.72441	2.144000	0.66660	0.533000	0.62120	TTC		0.562	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		G	45808092	T	G	45808092	3	3	600	1	0	0	0	0	1	0	0	0	16354	1493	52	5	551	5	TOE1	1	45808092	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	11895	45808092	203442529	5	32816											
ABCA4	24	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94466632	94466632	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:94466632C>A	ENST00000370225.3	-	46	6398	c.6312G>T	c.(6310-6312)caG>caT	p.Q2104H	ABCA4_ENST00000535881.1_Missense_Mutation_p.Q223H|ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000536513.1_Missense_Mutation_p.Q374H	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2104	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.Q2104H(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGCGGCGTGCCTGGGGGTCCA	0.632																																																1	Substitution - Missense(1)	kidney(1)											81	74	76					1																	94466632		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6312G>T	1.37:g.94466632C>A	ENSP00000359245:p.Gln2104His		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526257	0.44969	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.95482	-3.72;-3.72;-3.72	6.08	5.17	0.71159	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.171258	0.52532	D	0.000066	D	0.88987	0.6587	L	0.35341	1.055	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	D	0.86098	0.1554	10	0.54805	T	0.06	.	15.5081	0.75757	0.0:0.9339:0.0:0.0661	.	2104	P78363	ABCA4_HUMAN	H	896;2104;374;223	ENSP00000359245:Q2104H;ENSP00000439707:Q374H;ENSP00000443203:Q223H	ENSP00000359245:Q2104H	Q	-	3	2	ABCA4	94239220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.808000	0.38912	1.584000	0.49913	0.655000	0.94253	CAG		0.632	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94466632	C	A	94466632	3	1	600	1	0	0	0	0	1	0	0	0	34	680	24	4	529	4	ABCA4	1	94466632	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	48658540	94466632	154783989	6	32817											
ABCA4	24	broad.mit.edu;hgsc.bcm.edu	37	1	94568687	94568687	+	Nonsense_Mutation	SNP	G	G	A	rs62646861		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:94568687G>A	ENST00000370225.3	-	5	540	c.454C>T	c.(454-456)Cga>Tga	p.R152*	ABCA4_ENST00000535735.1_Nonsense_Mutation_p.R152*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	152			R -> Q (in dbSNP:rs62646862). {ECO:0000269|PubMed:10958763}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.R152*(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCCTTATTCGTATTCCTCTT	0.393																																																1	Substitution - Nonsense(1)	kidney(1)	GRCh37	CM992297	ABCA4	M							211	203	206					1																	94568687		2203	4300	6503	SO:0001587	stop_gained	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.454C>T	1.37:g.94568687G>A	ENSP00000359245:p.Arg152*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361483	0.95877	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	.	.	.	5.27	5.27	0.74061	.	0.304771	0.30210	N	0.010147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.5239	0.90963	0.0:0.0:1.0:0.0	rs62646861	.	.	.	X	152	.	ENSP00000359245:R152X	R	-	1	2	ABCA4	94341275	0.997000	0.39634	0.989000	0.46669	0.379000	0.30106	2.975000	0.49281	2.465000	0.83290	0.655000	0.94253	CGA		0.393	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		A	94568687	G	A	94568687	4	1	600	1	0	0	0	0	0	1	0	0	34	1153	40	1	6551	1	ABCA4	1	94568687	Nonsense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	102055	94568687	154681934	7	32818											
ADORA3	140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	112031474	112031474	+	Silent	SNP	G	G	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:112031474G>C	ENST00000369716.4	-	3	763	c.630C>G	c.(628-630)gcC>gcG	p.A210A	RNU6-792P_ENST00000363490.1_RNA|ADORA3_ENST00000369717.4_Silent_p.A129A	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.A129A(1)|p.A210A(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TGTCCCTCAGGGCCACATGAT	0.552																																																2	Substitution - coding silent(2)	kidney(2)											172	147	155					1																	112031474		2203	4300	6503	SO:0001819	synonymous_variant	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.630C>G	1.37:g.112031474G>C			A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000369716.4	37	CCDS838.1	.	.	.	.	.	.	.	.	.	.	G	7.722	0.697334	0.15106	.	.	ENSG00000121933	ENST00000414219;ENST00000442484	.	.	.	4.73	3.79	0.43588	.	.	.	.	.	T	0.47488	0.1448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44003	-0.9356	4	.	.	.	-4.2322	9.0632	0.36447	0.1027:0.0:0.8973:0.0	.	.	.	.	R	70;23	.	.	P	-	2	0	ADORA3	111832997	0.994000	0.37717	0.955000	0.39395	0.722000	0.41435	1.538000	0.36094	2.443000	0.82685	0.462000	0.41574	CCC		0.552	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683		C	112031474	G	C	112031474	2	2	600	1	0	0	0	0	0	0	0	1	329	1219	43	4		4	ADORA3	1	112031474	Silent	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	17462787	112031474	137219147	8	32819											
RPRD2	23248	broad.mit.edu;ucsc.edu	37	1	150445629	150445629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:150445629C>A	ENST00000369068.4	+	11	4209	c.4205C>A	c.(4204-4206)tCa>tAa	p.S1402*	RPRD2_ENST00000401000.4_Nonsense_Mutation_p.S1376*|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1402	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.S1402*(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTGGGTCCCTCACACAGAGAC	0.602																																																2	Substitution - Nonsense(2)	kidney(2)											54	59	57					1																	150445629		1959	4137	6096	SO:0001587	stop_gained	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4205C>A	1.37:g.150445629C>A	ENSP00000358064:p.Ser1402*		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Nonsense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	39	7.869540	0.98534	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	.	.	.	4.47	4.47	0.54385	.	0.562833	0.16054	N	0.231816	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6266	17.326	0.87248	0.0:1.0:0.0:0.0	.	.	.	.	X	1376;1402	.	ENSP00000358064:S1402X	S	+	2	0	RPRD2	148712253	0.794000	0.28838	1.000000	0.80357	0.997000	0.91878	4.694000	0.61760	2.293000	0.77203	0.655000	0.94253	TCA		0.602	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		A	150445629	C	A	150445629	4	1	600	1	0	0	0	0	0	1	0	0	13623	838	29	4	4247	4	RPRD2	1	150445629	Nonsense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	38414155	150445629	98804992	9	32820											
DENND4B	9909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153913052	153913052	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:153913052A>T	ENST00000361217.4	-	10	1775	c.1357T>A	c.(1357-1359)Tac>Aac	p.Y453N		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	453	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Y341N(1)|p.Y453N(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGAGGAATGTAGGGGCACTGC	0.582																																																2	Substitution - Missense(2)	kidney(2)											37	39	38					1																	153913052		2121	4240	6361	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1357T>A	1.37:g.153913052A>T	ENSP00000354597:p.Tyr453Asn		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682686	0.88542	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.24151	1.87;1.87	4.94	4.94	0.65067	DENN (3);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	H	0.96239	3.79	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72261	-0.4345	10	0.87932	D	0	-14.5566	13.7313	0.62789	1.0:0.0:0.0:0.0	.	453	O75064	DEN4B_HUMAN	N	453;464	ENSP00000354597:Y453N;ENSP00000357635:Y464N	ENSP00000354597:Y453N	Y	-	1	0	DENND4B	152179676	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.310000	0.78947	2.081000	0.62600	0.533000	0.62120	TAC		0.582	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		T	153913052	A	T	153913052	3	4	600	1	0	0	0	0	1	0	0	0	4436	420	15	5	3209	5	DENND4B	1	153913052	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	3467423	153913052	95337569	10	32821											
FLAD1	80308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154960848	154960848	+	Missense_Mutation	SNP	G	G	A	rs145054820	byFrequency	TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:154960848G>A	ENST00000292180.3	+	2	962	c.640G>A	c.(640-642)Ggg>Agg	p.G214R	FLAD1_ENST00000368432.1_Missense_Mutation_p.G117R|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000315144.10_Missense_Mutation_p.G117R|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368433.1_Missense_Mutation_p.G214R|FLAD1_ENST00000405236.2_Missense_Mutation_p.G115R|FLAD1_ENST00000368431.3_Missense_Mutation_p.G115R	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	214					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.G214R(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGCCCTAGGAGGGGAAGGCTG	0.562													G|||	9	0.00179712	0.0061	0.0	5008	,	,		19895	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	11,4395	17.9+/-39.9	0,11,2192	86	89	88		349,343,640,349	3.6	0.7	1	dbSNP_134	88	0,8600		0,0,4300	yes	missense,missense,missense,missense	FLAD1	NM_001184891.1,NM_001184892.1,NM_025207.4,NM_201398.2	125,125,125,125	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	probably-damaging,probably-damaging,probably-damaging,probably-damaging	117/447,115/295,214/588,117/491	154960848	11,12995	2203	4300	6503	SO:0001583	missense	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.640G>A	1.37:g.154960848G>A	ENSP00000292180:p.Gly214Arg		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	CCDS1078.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	10.59	1.392807	0.25118	0.002497	0.0	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.57	3.58	0.41010	Molybdopterin binding (4);	0.165861	0.52532	N	0.000061	T	0.43389	0.1245	N	0.26162	0.8	0.19300	N	0.999975	B;B	0.13145	0.007;0.004	B;B	0.24006	0.05;0.006	T	0.36672	-0.9738	10	0.44086	T	0.13	-9.9802	5.0625	0.14564	0.2566:0.2637:0.4796:0.0	.	214;115	Q8NFF5;Q8NFF5-4	FAD1_HUMAN;.	R	214;117;117;115;214;115	ENSP00000357418:G214R;ENSP00000317296:G117R;ENSP00000357417:G117R;ENSP00000357416:G115R;ENSP00000292180:G214R;ENSP00000384323:G115R	ENSP00000292180:G214R	G	+	1	0	FLAD1	153227472	0.002000	0.14202	0.668000	0.29813	0.756000	0.42949	1.167000	0.31847	0.623000	0.30267	0.462000	0.41574	GGG		0.562	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		A	154960848	G	A	154960848	3	1	600	1	0	0	0	0	1	0	0	0	5922	1000	35	2	721	2	FLAD1	1	154960848	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	1047796	154960848	94289773	11	32822											
GBA	2629	broad.mit.edu;hgsc.bcm.edu	37	1	155205090	155205090	+	Silent	SNP	A	A	T	rs144322275		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:155205090A>T	ENST00000327247.5	-	11	1633	c.1401T>A	c.(1399-1401)ccT>ccA	p.P467P	GBA_ENST00000368373.3_Silent_p.P467P|GBA_ENST00000536770.1_Silent_p.P354P|GBA_ENST00000427500.3_Silent_p.P418P|GBA_ENST00000493842.1_5'Flank|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000428024.3_Silent_p.P380P	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	467					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.P467P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GGGAGCCCTCAGGAATGAACT	0.577									Gaucher disease type I																																							1	Substitution - coding silent(1)	kidney(1)											41	38	39					1																	155205090		2203	4297	6500	SO:0001819	synonymous_variant	2629	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1401T>A	1.37:g.155205090A>T			A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	CCDS1102.1																																																																																				0.577	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		T	155205090	A	T	155205090	2	4	600	1	0	0	0	0	0	0	0	1	6268	175	7	5		5	GBA	1	155205090	Silent	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	244242	155205090	94045531	12	32823											
TNR	7143	broad.mit.edu;ucsc.edu	37	1	175355202	175355202	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:175355202G>A	ENST00000367674.2	-	8	2451	c.1743C>T	c.(1741-1743)aaC>aaT	p.N581N	TNR_ENST00000263525.2_Silent_p.N581N			Q92752	TENR_HUMAN	tenascin R	581	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.N581N(1)|p.N581K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AATCGCTCTCGTTGGTCCCTC	0.632																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											98	90	93					1																	175355202		2203	4300	6503	SO:0001819	synonymous_variant	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1743C>T	1.37:g.175355202G>A			C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.632	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		A	175355202	G	A	175355202	2	1	600	1	0	0	0	0	0	0	0	1	16343	1136	40	1		1	TNR	1	175355202	Silent	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	20150112	175355202	73895419	13	32824											
CFHR3	10878	broad.mit.edu;hgsc.bcm.edu	37	1	196762628	196762628	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:196762628C>T	ENST00000367425.4	+	6	1070	c.978C>T	c.(976-978)taC>taT	p.Y326Y	CFHR3_ENST00000391985.3_Silent_p.Y265Y	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	326	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Y326Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TAGTGGAATACCCCAGATGCG	0.388																																																1	Substitution - coding silent(1)	kidney(1)											110	129	123					1																	196762628		1911	4129	6040	SO:0001819	synonymous_variant	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.978C>T	1.37:g.196762628C>T			B4DPR0|Q9UJ16	Silent	SNP	ENST00000367425.4	37	CCDS30958.1																																																																																				0.388	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		T	196762628	C	T	196762628	2	4	600	1	0	0	0	0	0	0	0	1	3288	518	18	2		2	CFHR3	1	196762628	Silent	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	21407426	196762628	52487993	14	32825											
KDM5B	10765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202725626	202725626	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:202725626C>A	ENST00000367265.3	-	10	2380	c.1216G>T	c.(1216-1218)Gtt>Ttt	p.V406F	KDM5B_ENST00000367264.2_Missense_Mutation_p.V442F|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	406					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V406F(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCTTTCTCAACAAGCTCTGTG	0.418																																																1	Substitution - Missense(1)	kidney(1)											86	80	82					1																	202725626		2203	4300	6503	SO:0001583	missense	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1216G>T	1.37:g.202725626C>A	ENSP00000356234:p.Val406Phe		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295113	0.95574	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.89123	-2.36;-2.16;-2.47	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.985	D	0.95856	0.8879	10	0.87932	D	0	-22.8712	20.422	0.99049	0.0:1.0:0.0:0.0	.	442;406	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	406;248;442;248	ENSP00000356234:V406F;ENSP00000356233:V442F;ENSP00000235790:V248F	ENSP00000235790:V248F	V	-	1	0	KDM5B	200992249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GTT		0.418	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		A	202725626	C	A	202725626	3	1	600	1	0	0	0	0	1	0	0	0	8136	478	17	4	3490	4	KDM5B	1	202725626	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	5962998	202725626	46524995	15	32826											
CDC42BPA	8476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227288695	227288695	+	Silent	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:227288695T>C	ENST00000366769.3	-	15	3538	c.2247A>G	c.(2245-2247)gaA>gaG	p.E749E	CDC42BPA_ENST00000334218.5_Silent_p.E749E|CDC42BPA_ENST00000366765.3_Silent_p.E749E|CDC42BPA_ENST00000366766.2_Silent_p.E749E|CDC42BPA_ENST00000366767.3_Silent_p.E668E|CDC42BPA_ENST00000535525.1_Silent_p.E749E|CDC42BPA_ENST00000366764.2_Silent_p.E749E	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.E749E(2)|p.E668E(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATTCTTACCTTTCTCTTCTGG	0.308																																																3	Substitution - coding silent(3)	kidney(3)											43	42	42					1																	227288695		2200	4286	6486	SO:0001819	synonymous_variant	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2247A>G	1.37:g.227288695T>C				Silent	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	t	12.60	1.985893	0.35036	.	.	ENSG00000143776	ENST00000442054	.	.	.	5.7	3.68	0.42216	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49643	-0.8918	4	.	.	.	.	6.9539	0.24560	0.0:0.3021:0.0:0.6979	.	.	.	.	E	43	.	.	K	-	1	0	CDC42BPA	225355318	0.979000	0.34478	1.000000	0.80357	0.980000	0.70556	0.183000	0.16919	0.682000	0.31407	0.524000	0.50904	AAG		0.308	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		C	227288695	T	C	227288695	2	2	600	1	0	0	0	0	0	0	0	1	3074	1838	64	3		3	CDC42BPA	1	227288695	Silent	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	24563069	227288695	21961926	16	32827											
PXDN	7837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1642647	1642647	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:1642647G>C	ENST00000252804.4	-	21	4227	c.4177C>G	c.(4177-4179)Cag>Gag	p.Q1393E		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1393					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Q1393E(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATGGTCTTCTGCATTTCCAGA	0.557																																																1	Substitution - Missense(1)	kidney(1)											138	142	141					2																	1642647		2090	4221	6311	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4177C>G	2.37:g.1642647G>C	ENSP00000252804:p.Gln1393Glu		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273551	0.59649	.	.	ENSG00000130508	ENST00000252804	T	0.59502	0.26	5.43	5.43	0.79202	.	0.119539	0.56097	N	0.000021	T	0.50939	0.1645	L	0.45137	1.4	0.45747	D	0.998641	B	0.14805	0.011	B	0.19391	0.025	T	0.42344	-0.9457	10	0.17369	T	0.5	-41.3602	17.3777	0.87397	0.0:0.0:1.0:0.0	.	1393	Q92626	PXDN_HUMAN	E	1393	ENSP00000252804:Q1393E	ENSP00000252804:Q1393E	Q	-	1	0	PXDN	1621654	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.145000	0.77365	2.706000	0.92434	0.563000	0.77884	CAG		0.557	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		C	1642647	G	C	1642647	3	2	600	1	0	0	0	0	1	0	0	0	12853	1328	46	4	274	4	PXDN	2	1642647	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10		1642647	241556726	17	32828											
ROCK2	9475	hgsc.bcm.edu;ucsc.edu	37	2	11389808	11389814	+	Frame_Shift_Del	DEL	GGCAAAG	GGCAAAG	-	rs2230773	byFrequency	TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	GGCAAAG	GGCAAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:11389808_11389814delGGCAAAG	ENST00000315872.6	-	4	883_889	c.435_441delCTTTGCC	c.(433-441)gcctttgccfs	p.AFA145fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGGGGCTATTGGCAAAGGCCATAATAT	0.348																																																0																																										SO:0001589	frameshift_variant	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.435_441delCTTTGCC	2.37:g.11389808_11389814delGGCAAAG	ENSP00000317985:p.Ala145fs		Q53QZ0|Q53SJ7|Q9UQN5	Frame_Shift_Del	DEL	ENST00000315872.6	37	CCDS42654.1																																																																																				0.348	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			-	11389814	GGCAAAG	-	11389808	7	5	600	1	0	1	0	1	0	0	0	0	13524	1335	47	0	3845	0	ROCK2	2	11389808	Frame_Shift_Del	DEL	GGCAAAG	TCGA-CZ-5468-01A-01D-1501-10	9747161	11389808	231809565	18	32829											
BRE	9577	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	28532988	28532988	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:28532988C>T	ENST00000379632.2	+	13	1268	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	BRE_ENST00000344773.2_Intron|AC093690.1_ENST00000418963.1_RNA|BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Silent_p.A376A|BRE_ENST00000342045.2_Intron	NM_199193.2	NP_954663.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.A376A(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCAGCTCTGCCTGACATCCAG	0.413																																																1	Substitution - coding silent(1)	kidney(1)											119	116	117					2																	28532988		2203	4300	6503	SO:0001819	synonymous_variant	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000379632.2:c.1128C>T	2.37:g.28532988C>T				Silent	SNP	ENST00000379632.2	37	CCDS1765.1																																																																																				0.413	BRE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215112.1			T	28532988	C	T	28532988	2	4	600	1	0	0	0	0	0	0	0	1	1511	668	24	2		2	BRE	2	28532988	Silent	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	17143180	28532988	214666385	19	32830											
NRXN1	9378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	50733648	50733648	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:50733648G>T	ENST00000406316.2	-	13	3958	c.2482C>A	c.(2482-2484)Caa>Aaa	p.Q828K	NRXN1_ENST00000406859.3_Missense_Mutation_p.Q828K|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q820K|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q820K|NRXN1_ENST00000404971.1_Missense_Mutation_p.Q868K|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q828K|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	828	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.Q868K(1)|p.Q828K(1)|p.Q869K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGGCCTGTTGGTCATCCACT	0.463																																																3	Substitution - Missense(3)	kidney(3)											133	136	135					2																	50733648		1960	4145	6105	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2482C>A	2.37:g.50733648G>T	ENSP00000384311:p.Gln828Lys		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	9.056	0.993327	0.19043	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.7	4.81	0.61882	.	0.254973	0.39544	N	0.001322	T	0.59348	0.2187	N	0.11560	0.145	0.25983	N	0.982341	B;P;P	0.42010	0.19;0.768;0.703	B;B;B	0.35688	0.049;0.197;0.208	T	0.52260	-0.8599	10	0.24483	T	0.36	.	16.609	0.84838	0.0:0.1302:0.8698:0.0	.	868;828;820	Q9ULB1-3;F8WB18;A7E294	.;.;.	K	868;828;820;828;869;820;828	ENSP00000385142:Q868K;ENSP00000384311:Q828K;ENSP00000434015:Q820K;ENSP00000385017:Q828K;ENSP00000385434:Q820K;ENSP00000385681:Q828K	ENSP00000385017:Q828K	Q	-	1	0	NRXN1	50587152	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.666000	0.68059	1.375000	0.46248	0.561000	0.74099	CAA		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			T	50733648	G	T	50733648	3	4	600	1	0	0	0	0	1	0	0	0	10667	1357	47	4	2348	4	NRXN1	2	50733648	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	22200660	50733648	192465725	20	32831											
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61431456	61431456	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:61431456T>C	ENST00000398571.2	-	74	9395	c.9319A>G	c.(9319-9321)Aat>Gat	p.N3107D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3107					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.N3107D(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GGCCGAATATTGCTTTTCCCT	0.408																																																1	Substitution - Missense(1)	kidney(1)											113	109	110					2																	61431456		1864	4109	5973	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9319A>G	2.37:g.61431456T>C	ENSP00000381577:p.Asn3107Asp		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842639	0.51057	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	T	0.03607	3.87	6.03	6.03	0.97812	.	0.043193	0.85682	D	0.000000	T	0.05044	0.0135	L	0.36672	1.1	0.80722	D	1	P	0.42735	0.788	B	0.38985	0.287	T	0.47407	-0.9120	10	0.45353	T	0.12	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	3107	Q70CQ2	UBP34_HUMAN	D	2955;2872;3107;4	ENSP00000381577:N3107D	ENSP00000263989:N2955D	N	-	1	0	USP34	61284960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.313000	0.78055	0.455000	0.32223	AAT		0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			C	61431456	T	C	61431456	3	2	600	1	0	0	0	0	1	0	0	0	17070	1812	63	3	1349	3	USP34	2	61431456	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	10697808	61431456	181767917	21	32832											
B3GNT2	10678	broad.mit.edu	37	2	62450343	62450343	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:62450343C>T	ENST00000301998.4	+	2	1240	c.988C>T	c.(988-990)Ccc>Tcc	p.P330S	B3GNT2_ENST00000405767.1_Missense_Mutation_p.P330S	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	330					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.P330S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			CCATCTCTACCCCATTGATGA	0.527																																																1	Substitution - Missense(1)	kidney(1)											58	58	58					2																	62450343		2203	4300	6503	SO:0001583	missense	10678			AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"Beta 3-glycosyltransferases"	15629	protein-coding gene	gene with protein product		605581	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.988C>T	2.37:g.62450343C>T	ENSP00000305595:p.Pro330Ser		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464667	0.84425	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.41400	1.0;1.0	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.73291	-0.4029	10	0.54805	T	0.06	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	330	Q9NY97	B3GN2_HUMAN	S	330	ENSP00000305595:P330S;ENSP00000384692:P330S	ENSP00000305595:P330S	P	+	1	0	B3GNT2	62303847	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	CCC		0.527	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		T	62450343	C	T	62450343	3	4	600	1	0	0	0	0	1	0	0	0	1257	623	22	2	990	2	B3GNT2	2	62450343	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	1018887	62450343	180749030	22	32833											
C2orf65	130951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74808954	74808954	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:74808954C>T	ENST00000290536.5	-	5	732	c.616G>A	c.(616-618)Gac>Aac	p.D206N	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.D206N|M1AP_ENST00000409585.1_Missense_Mutation_p.D206N	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	206					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.D206N(1)									AGGTCAATGTCAGTTCCCAGA	0.348																																																1	Substitution - Missense(1)	kidney(1)											137	127	130					2																	74808954		2203	4300	6503	SO:0001583	missense	130951				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"		"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.616G>A	2.37:g.74808954C>T	ENSP00000290536:p.Asp206Asn		B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047267	0.93740	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.54675	0.56;0.56;0.56	5.76	5.76	0.90799	.	0.115830	0.64402	D	0.000020	T	0.70029	0.3177	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;P;D	0.71656	0.974;0.866;0.974	T	0.70777	-0.4780	10	0.56958	D	0.05	0.0318	15.4732	0.75456	0.0:1.0:0.0:0.0	.	206;206;206	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	N	206	ENSP00000290536:D206N;ENSP00000386793:D206N;ENSP00000445662:D206N	ENSP00000290536:D206N	D	-	1	0	C2orf65	74662462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.367000	0.66127	2.715000	0.92844	0.563000	0.77884	GAC		0.348	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		T	74808954	C	T	74808954	3	4	600	1	0	0	0	0	1	0	0	0	2186	826	29	2	1004	2	C2orf65	2	74808954	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	12358611	74808954	168390419	23	32834											
KIAA1310	55683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	97285435	97285435	+	Silent	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:97285435G>T	ENST00000431828.1	-	4	527	c.451C>A	c.(451-453)Cgg>Agg	p.R151R	KANSL3_ENST00000599854.1_Silent_p.R64R|KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000435669.1_Silent_p.R64R|KANSL3_ENST00000440133.1_Intron|KANSL3_ENST00000441706.2_Silent_p.R64R			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	151					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R151R(1)									CGGGCAAGCCGGTCAGACTGC	0.542																																																1	Substitution - coding silent(1)	kidney(1)											31	33	33					2																	97285435		1936	4135	6071	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.451C>A	2.37:g.97285435G>T			A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	ENST00000431828.1	37	CCDS46361.1																																																																																				0.542	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		T	97285435	G	T	97285435	2	4	600	1	0	0	0	0	0	0	0	1	8224	1115	39	4		4	KIAA1310	2	97285435	Silent	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	22476481	97285435	145913938	24	32835											
INPP4A	3631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	99155379	99155379	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:99155379T>G	ENST00000523221.1	+	7	605	c.605T>G	c.(604-606)tTg>tGg	p.L202W	INPP4A_ENST00000409851.3_Missense_Mutation_p.L202W|INPP4A_ENST00000545415.1_Missense_Mutation_p.L202W|INPP4A_ENST00000409016.4_Missense_Mutation_p.L202W|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000074304.5_Missense_Mutation_p.L202W|INPP4A_ENST00000409540.3_Missense_Mutation_p.L202W			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	202					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.L202W(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GATGAGAGCTTGACGGAGGCG	0.443																																																2	Substitution - Missense(2)	kidney(2)											99	92	94					2																	99155379		1966	4161	6127	SO:0001583	missense	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.605T>G	2.37:g.99155379T>G	ENSP00000427722:p.Leu202Trp		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166910	0.78339	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	M	0.64997	1.995	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.975;0.989;0.989	D;P;P;P	0.66847	0.947;0.688;0.839;0.839	T	0.58781	-0.7576	10	0.66056	D	0.02	-1.9384	14.2247	0.65850	0.0:0.0:0.0:1.0	.	202;202;202;202	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	W	202	ENSP00000386704:L202W;ENSP00000386777:L202W;ENSP00000074304:L202W;ENSP00000442149:L202W;ENSP00000387294:L202W;ENSP00000427722:L202W	ENSP00000074304:L202W	L	+	2	0	INPP4A	98521811	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	7.789000	0.85783	2.143000	0.66587	0.477000	0.44152	TTG		0.443	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		G	99155379	T	G	99155379	3	3	600	1	0	0	0	0	1	0	0	0	7754	1821	63	5	631	5	INPP4A	2	99155379	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	1869944	99155379	144043994	25	32836											
FHL2	2274	broad.mit.edu;ucsc.edu	37	2	105977880	105977880	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:105977880T>C	ENST00000409807.1	-	6	1034	c.700A>G	c.(700-702)Aca>Gca	p.T234A	FHL2_ENST00000408995.1_Missense_Mutation_p.T234A|FHL2_ENST00000393353.3_Missense_Mutation_p.T234A|FHL2_ENST00000322142.8_Missense_Mutation_p.T234A|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000393352.3_Missense_Mutation_p.T234A|FHL2_ENST00000358129.4_Missense_Mutation_p.T234A|FHL2_ENST00000344213.4_Missense_Mutation_p.T344A|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000409177.1_Missense_Mutation_p.T350A			Q14192	FHL2_HUMAN	four and a half LIM domains 2	234	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T234A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						ATGTATTTTGTGCCACCAAGT	0.458																																																1	Substitution - Missense(1)	kidney(1)											98	84	89					2																	105977880		2203	4300	6503	SO:0001583	missense	2274				CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.700A>G	2.37:g.105977880T>C	ENSP00000386665:p.Thr234Ala		Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	ENST00000409807.1	37	CCDS2070.1	.	.	.	.	.	.	.	.	.	.	T	5.681	0.310287	0.10733	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995	D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.33	5.33	0.75918	Zinc finger, LIM-type (5);	0.196267	0.53938	D	0.000059	T	0.65533	0.2700	N	0.01284	-0.91	0.80722	D	1	B;B;B;B	0.21225	0.0;0.0;0.053;0.0	B;B;B;B	0.28011	0.002;0.006;0.085;0.002	T	0.64618	-0.6365	10	0.06891	T	0.86	.	10.0382	0.42142	0.0:0.0757:0.0:0.9243	.	234;234;344;234	Q6I9R8;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	A	234;344;234;234;234;234;234;234	ENSP00000386892:T234A;ENSP00000344266:T344A;ENSP00000377021:T234A;ENSP00000377020:T234A;ENSP00000322909:T234A;ENSP00000350846:T234A;ENSP00000386665:T234A;ENSP00000386633:T234A	ENSP00000322909:T234A	T	-	1	0	FHL2	105344312	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.190000	0.58365	2.128000	0.65567	0.528000	0.53228	ACA		0.458	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			C	105977880	T	C	105977880	3	2	600	1	0	0	0	0	1	0	0	0	5881	1696	59	3	143	3	FHL2	2	105977880	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	6822501	105977880	137221493	26	32837											
GCC2	9648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109100625	109100625	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:109100625G>C	ENST00000309863.6	+	13	4185	c.3471G>C	c.(3469-3471)ttG>ttC	p.L1157F		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1157					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.L1157F(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAACCACATTGATGAATATGG	0.269																																																1	Substitution - Missense(1)	kidney(1)											51	55	54					2																	109100625		2203	4286	6489	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3471G>C	2.37:g.109100625G>C	ENSP00000307939:p.Leu1157Phe		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817476	0.70912	.	.	ENSG00000135968	ENST00000309863	T	0.44482	0.92	5.76	2.85	0.33270	.	0.000000	0.64402	D	0.000004	T	0.58495	0.2126	M	0.69823	2.125	0.47698	D	0.999498	D	0.89917	1.0	D	0.85130	0.997	T	0.55360	-0.8153	10	0.56958	D	0.05	.	8.0978	0.30840	0.1492:0.1296:0.7212:0.0	.	1157	Q8IWJ2	GCC2_HUMAN	F	1157	ENSP00000307939:L1157F	ENSP00000307939:L1157F	L	+	3	2	GCC2	108467057	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.060000	0.41394	0.295000	0.22570	0.591000	0.81541	TTG		0.269	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		C	109100625	G	C	109100625	3	2	600	1	0	0	0	0	1	0	0	0	6288	1281	45	4	3521	4	GCC2	2	109100625	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	3122745	109100625	134098748	27	32838											
WDR33	55339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128477700	128477700	+	Silent	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:128477700T>A	ENST00000322313.4	-	16	2057	c.1899A>T	c.(1897-1899)ggA>ggT	p.G633G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	633	Collagen-like.				mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G633G(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTCCCATTTGTCCCTGGGGTC	0.617																																																1	Substitution - coding silent(1)	kidney(1)											64	62	63					2																	128477700		2203	4300	6503	SO:0001819	synonymous_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1899A>T	2.37:g.128477700T>A			Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	CCDS2150.1																																																																																				0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		A	128477700	T	A	128477700	2	1	600	1	0	0	0	0	0	0	0	1	17292	1654	58	5		5	WDR33	2	128477700	Silent	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	19377075	128477700	114721673	28	32839											
ABCA12	26154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	215838696	215838696	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:215838696A>C	ENST00000272895.7	-	36	5758	c.5539T>G	c.(5539-5541)Tgc>Ggc	p.C1847G	ABCA12_ENST00000389661.4_Missense_Mutation_p.C1529G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1847					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.C1847G(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGCAGGAGCAAACACCAAAA	0.388																																					Ovarian(66;664 1488 5121 34295)											1	Substitution - Missense(1)	kidney(1)											183	168	173					2																	215838696		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5539T>G	2.37:g.215838696A>C	ENSP00000272895:p.Cys1847Gly		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.915866	0.52546	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95821	-3.82;-3.78	5.89	5.89	0.94794	.	0.716205	0.13578	N	0.377557	D	0.97654	0.9231	M	0.88105	2.93	0.80722	D	1	D;D	0.58620	0.983;0.958	P;P	0.58013	0.831;0.553	D	0.97572	1.0105	10	0.87932	D	0	.	14.8794	0.70519	1.0:0.0:0.0:0.0	.	1847;1529	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	G	1847;1529	ENSP00000272895:C1847G;ENSP00000374312:C1529G	ENSP00000272895:C1847G	C	-	1	0	ABCA12	215546941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.909000	0.69923	2.250000	0.74265	0.455000	0.32223	TGC		0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		C	215838696	A	C	215838696	3	2	600	1	0	0	0	0	1	0	0	0	30	130	5	5	2320	5	ABCA12	2	215838696	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	87360996	215838696	27360677	29	32840											
RNF25	64320	hgsc.bcm.edu	37	2	219529592	219529592	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:219529592A>G	ENST00000295704.2	-	9	1111	c.671T>C	c.(670-672)cTg>cCg	p.L224P		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	224					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCTGGTACAGCTCCTGGAA	0.562																																																0													51	50	50					2																	219529592		2203	4300	6503	SO:0001583	missense	64320				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.671T>C	2.37:g.219529592A>G	ENSP00000295704:p.Leu224Pro		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	A	3.133	-0.178083	0.06380	.	.	ENSG00000163481	ENST00000295704	T	0.46451	0.87	5.94	-0.965	0.10323	.	0.783356	0.11922	N	0.516605	T	0.20536	0.0494	N	0.17474	0.49	0.20764	N	0.999854	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	10	0.30078	T	0.28	-25.7991	3.288	0.06939	0.3695:0.0:0.2059:0.4246	.	224	Q96BH1	RNF25_HUMAN	P	224	ENSP00000295704:L224P	ENSP00000295704:L224P	L	-	2	0	RNF25	219237836	0.139000	0.22563	0.551000	0.28230	0.140000	0.21249	0.546000	0.23284	-0.104000	0.12154	-0.444000	0.05651	CTG		0.562	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		G	219529592	A	G	219529592	3	3	600	1	0	0	0	0	1	0	0	0	13491	188	7	3	716	3	RNF25	2	219529592	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	3690896	219529592	23669781	30	32841											
DOCK10	55619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225668898	225668898	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:225668898G>T	ENST00000258390.7	-	39	4266	c.4199C>A	c.(4198-4200)tCc>tAc	p.S1400Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1394Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1400					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1398Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GTTCTGGGTGGACTGCACAAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											94	90	91					2																	225668898		1838	4092	5930	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4199C>A	2.37:g.225668898G>T	ENSP00000258390:p.Ser1400Tyr		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.11|15.11	2.735346|2.735346	0.48939|0.48939	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.68765	.|4.56;-0.35	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.932410	.|0.09062	.|N	.|0.854102	T|T	0.55816|0.55816	0.1944|0.1944	N|N	0.22421|0.22421	0.69|0.69	0.34187|0.34187	D|D	0.67164|0.67164	.|P;B;B;B	.|0.39624	.|0.681;0.214;0.306;0.001	.|B;B;B;B	.|0.34779	.|0.133;0.123;0.189;0.002	T|T	0.60875|0.60875	-0.7176|-0.7176	5|10	.|0.33940	.|T	.|0.23	.|.	16.797|16.797	0.85605|0.85605	0.0:0.1284:0.8716:0.0|0.0:0.1284:0.8716:0.0	.|.	.|1400;254;1394;62	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	T|Y	282|1394;1400	.|ENSP00000386694:S1394Y;ENSP00000258390:S1400Y	.|ENSP00000258390:S1400Y	P|S	-|-	1|2	0|0	DOCK10|DOCK10	225377142|225377142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.507000|7.507000	0.81676|0.81676	2.680000|2.680000	0.91292|0.91292	0.585000|0.585000	0.79938|0.79938	CCA|TCC		0.353	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			T	225668898	G	T	225668898	3	4	600	1	0	0	0	0	1	0	0	0	4687	1174	41	4	2433	4	DOCK10	2	225668898	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	6139306	225668898	17530475	31	32842											
UGT1A8	54658	broad.mit.edu;hgsc.bcm.edu	37	2	234526756	234526757	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:234526756_234526757insA	ENST00000373450.4	+	1	466_467	c.403_404insA	c.(403-405)gaafs	p.E135fs		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	138					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AAAATTAGTAGAATACTTAAAG	0.361																																																0																																										SO:0001589	frameshift_variant	54576			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.405dupA	2.37:g.234526758_234526758dupA	ENSP00000362549:p.Glu135fs		A6NJC3|B8K286	Frame_Shift_Ins	INS	ENST00000373450.4	37	CCDS33402.1																																																																																				0.361	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			A	234526757	-	A	234526756	7	5	600	1	0	1	1	0	0	0	0	0	16956	943	33	0	405	0	UGT1A8	2	234526756	Frame_Shift_Ins	INS	-	TCGA-CZ-5468-01A-01D-1501-10	8857858	234526756	8672617	32	32843											
CAND2	23066	broad.mit.edu	37	3	12856884	12856884	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:12856884G>T	ENST00000456430.2	+	8	1292	c.1251G>T	c.(1249-1251)atG>atT	p.M417I	CAND2_ENST00000295989.5_Missense_Mutation_p.M324I	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	417					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.M324I(1)|p.M417I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGGAGGCCATGGAGGAACCCA	0.607																																					GBM(43;676 868 1633 6395 37496)											2	Substitution - Missense(2)	kidney(2)											40	49	46					3																	12856884		2085	4200	6285	SO:0001583	missense	23066				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1251G>T	3.37:g.12856884G>T	ENSP00000387641:p.Met417Ile		B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	9.209	1.030540	0.19512	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.64260	-0.09;-0.09	4.7	1.66	0.24008	Armadillo-like helical (1);Armadillo-type fold (1);	1.177130	0.06056	N	0.657515	T	0.37919	0.1021	N	0.08118	0	0.58432	D	0.99999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49123	-0.8972	10	0.36615	T	0.2	-4.4929	2.2005	0.03922	0.17:0.1655:0.4951:0.1694	.	417;324	O75155;O75155-2	CAND2_HUMAN;.	I	324;417	ENSP00000295989:M324I;ENSP00000387641:M417I	ENSP00000295989:M324I	M	+	3	0	CAND2	12831884	0.000000	0.05858	0.898000	0.35279	0.770000	0.43624	-0.798000	0.04565	0.936000	0.37367	0.561000	0.74099	ATG		0.607	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		T	12856884	G	T	12856884	3	4	600	1	0	0	0	0	1	0	0	0	2618	1348	47	4	1281	4	CAND2	3	12856884	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10		12856884	185165546	33	32844											
TTC21A	199223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	39179047	39179047	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:39179047G>T	ENST00000431162.2	+	26	3676	c.3542G>T	c.(3541-3543)cGt>cTt	p.R1181L	TTC21A_ENST00000440121.1_Missense_Mutation_p.R1133L|TTC21A_ENST00000301819.6_Missense_Mutation_p.R1182L|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1181								p.R1182L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCAAGGCGCGTATGCAGTTG	0.612																																																1	Substitution - Missense(1)	kidney(1)											66	75	72					3																	39179047		2101	4227	6328	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3542G>T	3.37:g.39179047G>T	ENSP00000398211:p.Arg1181Leu		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788429	0.70337	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.73047	-0.71;-0.71;-0.71	4.1	4.1	0.47936	Tetratricopeptide-like helical (1);	0.198644	0.30118	N	0.010370	D	0.84597	0.5507	M	0.88640	2.97	0.50171	D	0.999857	D;D;D	0.69078	0.997;0.997;0.994	D;D;P	0.70487	0.969;0.917;0.829	D	0.84765	0.0764	10	0.25106	T	0.35	-5.0768	15.0874	0.72165	0.0:0.0:1.0:0.0	.	1133;1182;1181	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	L	1182;1164;1181;1133	ENSP00000301819:R1182L;ENSP00000398211:R1181L;ENSP00000410882:R1133L	ENSP00000301819:R1182L	R	+	2	0	TTC21A	39154051	1.000000	0.71417	0.996000	0.52242	0.179000	0.23085	9.240000	0.95396	1.809000	0.52856	0.313000	0.20887	CGT		0.612	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		T	39179047	G	T	39179047	3	4	600	1	0	0	0	0	1	0	0	0	16692	1145	40	4	3647	4	TTC21A	3	39179047	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	26322163	39179047	158843383	34	32845											
CADPS	8618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	62385148	62385148	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:62385148C>A	ENST00000383710.4	-	30	4344	c.3995G>T	c.(3994-3996)aGt>aTt	p.S1332I	CADPS_ENST00000357948.3_Missense_Mutation_p.S1253I|CADPS_ENST00000283269.9_Missense_Mutation_p.S1293I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1332	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.S1332I(1)|p.S1293I(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCCACCTTCACTCACTGATGC	0.527																																																2	Substitution - Missense(2)	kidney(2)											207	180	189					3																	62385148		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3995G>T	3.37:g.62385148C>A	ENSP00000373215:p.Ser1332Ile		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.36|16.36	3.100063|3.100063	0.56183|0.56183	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000473635	T;T;T|.	0.33654|.	1.4;1.4;1.4|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.046647|.	0.85682|.	D|.	0.000000|.	T|T	0.76054|0.76054	0.3934|0.3934	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.46220|.	0.812;0.874;0.475;0.812|.	P;P;B;P|.	0.50490|.	0.568;0.466;0.133;0.642|.	T|T	0.72808|0.72808	-0.4181|-0.4181	10|5	0.87932|.	D|.	0|.	.|.	20.2019|20.2019	0.98263|0.98263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1253;1293;1332;1337|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	I|L	1338;1332;1253;1293|324	ENSP00000373215:S1332I;ENSP00000350632:S1253I;ENSP00000283269:S1293I|.	ENSP00000283269:S1293I|.	S|V	-|-	2|1	0|0	CADPS|CADPS	62360188|62360188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.487000|7.487000	0.81328|0.81328	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.527	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		A	62385148	C	A	62385148	3	1	600	1	0	0	0	0	1	0	0	0	2572	565	20	4	70	4	CADPS	3	62385148	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	23206101	62385148	135637282	35	32846											
ZPLD1	131368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	102181210	102181210	+	Missense_Mutation	SNP	A	A	C	rs200052497		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:102181210A>C	ENST00000491959.1	+	13	1550	c.668A>C	c.(667-669)aAt>aCt	p.N223T	ZPLD1_ENST00000466937.1_Missense_Mutation_p.N223T|ZPLD1_ENST00000306176.1_Missense_Mutation_p.N239T			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	223	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.N239T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAAGCCACTAATTTGGATGGC	0.358																																																1	Substitution - Missense(1)	kidney(1)											48	53	51					3																	102181210		2203	4300	6503	SO:0001583	missense	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.668A>C	3.37:g.102181210A>C	ENSP00000420265:p.Asn223Thr		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	A	21.1	4.097698	0.76870	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.82255	-1.59;-1.59;-1.59	5.18	5.18	0.71444	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.991	D	0.87625	0.2512	10	0.24483	T	0.36	-0.2797	15.0184	0.71605	1.0:0.0:0.0:0.0	.	239;223	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	T	223;239;223	ENSP00000420265:N223T;ENSP00000307801:N239T;ENSP00000418253:N223T	ENSP00000307801:N239T	N	+	2	0	ZPLD1	103663900	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.827000	0.92041	1.940000	0.56252	0.533000	0.62120	AAT		0.358	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		C	102181210	A	C	102181210	3	2	600	1	0	0	0	0	1	0	0	0	18226	101	4	5	738	5	ZPLD1	3	102181210	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	39796062	102181210	95841220	36	32847											
LXN	56925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	158387254	158387254	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:158387254A>G	ENST00000264265.3	-	3	552	c.338T>C	c.(337-339)aTg>aCg	p.M113T	GFM1_ENST00000486715.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000478576.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	113	Alpha-helical linker. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)	p.M113T(1)		breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGGTTCCTTCATGGACTTAAG	0.348																																																1	Substitution - Missense(1)	kidney(1)											113	108	110					3																	158387254		2203	4300	6503	SO:0001583	missense	56925			AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.338T>C	3.37:g.158387254A>G	ENSP00000264265:p.Met113Thr		Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	A	8.345	0.829533	0.16749	.	.	ENSG00000079257	ENST00000264265	T	0.21361	2.01	5.13	1.36	0.22044	.	0.609510	0.18776	N	0.131470	T	0.17874	0.0429	L	0.57536	1.79	0.24380	N	0.994792	B	0.28880	0.226	B	0.31442	0.13	T	0.27773	-1.0064	10	0.17832	T	0.49	-4.081	6.539	0.22370	0.739:0.1311:0.1299:0.0	.	113	Q9BS40	LXN_HUMAN	T	113	ENSP00000264265:M113T	ENSP00000264265:M113T	M	-	2	0	LXN	159869948	1.000000	0.71417	0.971000	0.41717	0.855000	0.48748	1.028000	0.30128	0.003000	0.14656	0.528000	0.53228	ATG		0.348	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1	NM_020169		G	158387254	A	G	158387254	3	3	600	1	0	0	0	0	1	0	0	0	9091	217	8	3	346	3	LXN	3	158387254	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	56206044	158387254	39635176	37	32848											
BCHE	590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	165503969	165503969	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:165503969A>T	ENST00000264381.3	-	3	1814	c.1648T>A	c.(1648-1650)Tgg>Agg	p.W550R	BCHE_ENST00000540653.1_Missense_Mutation_p.W12R	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	550					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.W550R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AATGATGTCCAGAATCGACAT	0.353																																																1	Substitution - Missense(1)	kidney(1)											141	127	132					3																	165503969		2203	4299	6502	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1648T>A	3.37:g.165503969A>T	ENSP00000264381:p.Trp550Arg		A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972755	0.53614	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653;ENST00000488954	D;D;D;D	0.96587	-4.06;-4.06;-2.72;-4.06	5.72	5.72	0.89469	Acetylcholinesterase, tetramerisation (1);Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	H	0.94582	3.555	0.47698	D	0.999496	D	0.89917	1.0	D	0.97110	1.0	D	0.99734	1.1013	10	0.87932	D	0	.	15.1866	0.73006	1.0:0.0:0.0:0.0	.	550	P06276	CHLE_HUMAN	R	550;80;12;80	ENSP00000264381:W550R;ENSP00000418325:W80R;ENSP00000443583:W12R;ENSP00000418504:W80R	ENSP00000264381:W550R	W	-	1	0	BCHE	166986663	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	4.590000	0.61013	2.184000	0.69523	0.533000	0.62120	TGG		0.353	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			T	165503969	A	T	165503969	3	4	600	1	0	0	0	0	1	0	0	0	1358	188	7	5	168	5	BCHE	3	165503969	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	7116715	165503969	32518461	38	32849											
ZBBX	79740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167000224	167000224	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:167000224T>G	ENST00000392766.2	-	19	2279	c.1939A>C	c.(1939-1941)Agc>Cgc	p.S647R	ZBBX_ENST00000392764.1_Missense_Mutation_p.S618R|ZBBX_ENST00000455345.2_Missense_Mutation_p.S686R|ZBBX_ENST00000307529.5_Missense_Mutation_p.S686R|ZBBX_ENST00000392767.2_Missense_Mutation_p.S647R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	647	Ser-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S686R(1)|p.S647R(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAACTGGAGCTTTCTTTAACA	0.338																																																2	Substitution - Missense(2)	kidney(2)											142	137	138					3																	167000224		1835	4075	5910	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1939A>C	3.37:g.167000224T>G	ENSP00000376519:p.Ser647Arg		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	3.480	-0.106059	0.06924	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11385	2.95;2.95;2.96;2.96;2.78	5.28	-3.49	0.04724	.	1.164510	0.06015	N	0.650203	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.002	T	0.40905	-0.9538	10	0.39692	T	0.17	9.0629	2.2678	0.04083	0.1336:0.3735:0.1364:0.3565	.	686;647	A8MT70-2;A8MT70	.;ZBBX_HUMAN	R	647;647;686;686;618	ENSP00000376519:S647R;ENSP00000376520:S647R;ENSP00000390232:S686R;ENSP00000305065:S686R;ENSP00000376517:S618R	ENSP00000305065:S686R	S	-	1	0	ZBBX	168482918	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.597000	0.05713	-0.517000	0.06461	0.528000	0.53228	AGC		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		G	167000224	T	G	167000224	3	3	600	1	0	0	0	0	1	0	0	0	17521	1609	56	5	475	5	ZBBX	3	167000224	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	1496255	167000224	31022206	39	32850											
ECT2	1894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	172502507	172502507	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:172502507C>G	ENST00000392692.3	+	17	1915	c.1739C>G	c.(1738-1740)gCa>gGa	p.A580G	ECT2_ENST00000232458.5_Missense_Mutation_p.A549G|ECT2_ENST00000540509.1_Missense_Mutation_p.A580G|ECT2_ENST00000417960.1_Missense_Mutation_p.A548G|ECT2_ENST00000427830.1_Missense_Mutation_p.A549G|ECT2_ENST00000441497.2_Missense_Mutation_p.A549G	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	580	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.A549G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATAAACCAAGCAAAACCAGAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											157	148	151					3																	172502507		2203	4300	6503	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1739C>G	3.37:g.172502507C>G	ENSP00000376457:p.Ala580Gly		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409428	0.83340	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.78	5.78	0.91487	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.152642	0.64402	D	0.000016	T	0.71409	0.3336	M	0.75447	2.3	0.80722	D	1	P;B;P;B;B	0.41848	0.763;0.242;0.721;0.321;0.321	P;B;B;B;B	0.46208	0.507;0.314;0.281;0.205;0.205	T	0.70781	-0.4779	10	0.41790	T	0.15	-19.9772	19.6059	0.95582	0.0:1.0:0.0:0.0	.	580;25;580;549;548	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	G	549;580;549;548;549;580	ENSP00000232458:A549G;ENSP00000376457:A580G;ENSP00000401910:A549G;ENSP00000415876:A548G;ENSP00000412259:A549G;ENSP00000443160:A580G	ENSP00000232458:A549G	A	+	2	0	ECT2	173985201	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.314000	0.65804	2.738000	0.93877	0.591000	0.81541	GCA		0.363	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		G	172502507	C	G	172502507	3	3	600	1	0	0	0	0	1	0	0	0	4903	710	25	4	1704	4	ECT2	3	172502507	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	5502283	172502507	25519923	40	32851											
CPZ	8532	broad.mit.edu;ucsc.edu	37	4	8609117	8609117	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr4:8609117G>A	ENST00000360986.4	+	7	1366	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	CPZ_ENST00000315782.6_Missense_Mutation_p.E387K|CPZ_ENST00000382480.2_Missense_Mutation_p.E261K|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	398					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E398K(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCACCCCCAGGAGGAGAAGAT	0.612											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											104	89	94					4																	8609117		2203	4300	6503	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1192G>A	4.37:g.8609117G>A	ENSP00000354255:p.Glu398Lys	650	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	g	17.14	3.314677	0.60524	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.58210	0.67;2.05;0.35	4.3	3.43	0.39272	Peptidase M14, carboxypeptidase A (2);	0.120561	0.53938	U	0.000047	T	0.43077	0.1231	L	0.33293	1	0.80722	D	1	B;B	0.26547	0.152;0.056	B;B	0.33295	0.161;0.16	T	0.15925	-1.0420	10	0.17832	T	0.49	-21.3227	13.9156	0.63895	0.0:0.154:0.846:0.0	.	387;398	Q66K79-2;Q66K79	.;CBPZ_HUMAN	K	398;261;387	ENSP00000354255:E398K;ENSP00000371920:E261K;ENSP00000315074:E387K	ENSP00000315074:E387K	E	+	1	0	CPZ	8660017	1.000000	0.71417	0.981000	0.43875	0.972000	0.66771	4.758000	0.62220	0.769000	0.33313	0.444000	0.29173	GAG		0.612	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		A	8609117	G	A	8609117	3	1	600	1	0	0	0	0	1	0	0	0	3841	1175	41	2	1218	2	CPZ	4	8609117	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10		8609117	182545159	41	32852											
PRKG2	5593	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	82126026	82126026	+	Missense_Mutation	SNP	G	G	A	rs543931109		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr4:82126026G>A	ENST00000395578.1	-	2	292	c.176C>T	c.(175-177)tCg>tTg	p.S59L	PRKG2_ENST00000264399.1_Missense_Mutation_p.S59L|PRKG2_ENST00000418486.2_Missense_Mutation_p.S59L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	59					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.S59L(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGTCTGCTTCGACAGCTGCTC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17813	0.001		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)											109	108	108					4																	82126026		2203	4300	6503	SO:0001583	missense	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.176C>T	4.37:g.82126026G>A	ENSP00000378945:p.Ser59Leu		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649726	0.47362	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.83250	-1.7;-1.7;-1.7	5.34	5.34	0.76211	.	0.250497	0.40222	N	0.001147	T	0.70876	0.3274	N	0.14661	0.345	0.80722	D	1	B;B	0.18461	0.028;0.0	B;B	0.12156	0.007;0.001	T	0.67027	-0.5774	10	0.48119	T	0.1	-5.8698	13.7557	0.62935	0.0:0.0:0.8464:0.1536	.	59;59	E7EPE6;Q13237	.;KGP2_HUMAN	L	59	ENSP00000378945:S59L;ENSP00000264399:S59L;ENSP00000389038:S59L	ENSP00000264399:S59L	S	-	2	0	PRKG2	82345050	1.000000	0.71417	0.960000	0.40013	0.959000	0.62525	6.225000	0.72271	2.780000	0.95670	0.585000	0.79938	TCG		0.557	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		A	82126026	G	A	82126026	3	1	600	1	0	0	0	0	1	0	0	0	12528	1059	37	1	2184	1	PRKG2	4	82126026	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	73516909	82126026	109028250	42	32853											
HERC3	8916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	89607937	89607937	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr4:89607937T>A	ENST00000402738.1	+	22	2797	c.2558T>A	c.(2557-2559)tTc>tAc	p.F853Y	RNU6-33P_ENST00000384793.1_RNA|HERC3_ENST00000264345.3_Missense_Mutation_p.F853Y|HERC3_ENST00000543130.1_Missense_Mutation_p.F297Y	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	853					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F853Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAGGAGACTTTCTGCCTCAAC	0.418																																																1	Substitution - Missense(1)	kidney(1)											118	108	111					4																	89607937		2203	4300	6503	SO:0001583	missense	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2558T>A	4.37:g.89607937T>A	ENSP00000385684:p.Phe853Tyr		A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.920857	0.92249	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130;ENST00000512194	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.98	4.98	0.66077	HECT (4);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71474	-0.4582	10	0.66056	D	0.02	.	14.8428	0.70237	0.0:0.0:0.0:1.0	.	853	Q15034	HERC3_HUMAN	Y	853;853;297;246	ENSP00000385684:F853Y;ENSP00000264345:F853Y;ENSP00000441703:F297Y;ENSP00000421021:F246Y	ENSP00000264345:F853Y	F	+	2	0	HERC3	89826960	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.622000	0.83099	2.086000	0.62901	0.533000	0.62120	TTC		0.418	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		A	89607937	T	A	89607937	3	1	600	1	0	0	0	0	1	0	0	0	7061	1783	62	5	2636	5	HERC3	4	89607937	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	7481911	89607937	101546339	43	32854											
C4orf29	80167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	128905506	128905506	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr4:128905506C>A	ENST00000444616.1	+	3	352	c.105C>A	c.(103-105)ttC>ttA	p.F35L	C4orf29_ENST00000388795.5_5'UTR|C4orf29_ENST00000398965.1_Missense_Mutation_p.F35L			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	35						extracellular region (GO:0005576)		p.F35L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCTTTGAATTCAGAAAGATGA	0.313																																																2	Substitution - Missense(2)	kidney(2)											52	48	50					4																	128905506		1757	3906	5663	SO:0001583	missense	80167			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.105C>A	4.37:g.128905506C>A	ENSP00000397229:p.Phe35Leu		A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37		.	.	.	.	.	.	.	.	.	.	C	14.94	2.683891	0.47991	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000513371	.	.	.	5.6	3.88	0.44766	.	0.062767	0.64402	N	0.000004	T	0.47525	0.1450	L	0.41824	1.3	0.58432	D	0.999994	B	0.25048	0.117	B	0.29524	0.103	T	0.38585	-0.9654	9	0.45353	T	0.12	-12.1596	8.9386	0.35715	0.0:0.7675:0.0:0.2325	.	35	Q0P651	CD029_HUMAN	L	35	.	ENSP00000381937:F35L	F	+	3	2	C4orf29	129124956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.593000	0.36686	0.721000	0.32231	0.655000	0.94253	TTC		0.313	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		A	128905506	C	A	128905506	3	1	600	1	0	0	0	0	1	0	0	0	2261	825	29	4	111	4	C4orf29	4	128905506	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	39297569	128905506	62248770	44	32855											
ACSL1	2180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	185694256	185694256	+	Silent	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr4:185694256T>C	ENST00000515030.1	-	10	1219	c.894A>G	c.(892-894)tcA>tcG	p.S298S	ACSL1_ENST00000437665.3_Silent_p.S127S|ACSL1_ENST00000504900.1_Silent_p.S298S|ACSL1_ENST00000281455.2_Silent_p.S298S|ACSL1_ENST00000507295.1_Silent_p.S264S|ACSL1_ENST00000504342.1_Silent_p.S298S|ACSL1_ENST00000454703.2_Silent_p.S127S|ACSL1_ENST00000513317.1_Silent_p.S298S			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	298					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.S298S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCACAAAAGCTGAACAATCGC	0.433																																																1	Substitution - coding silent(1)	kidney(1)											126	114	118					4																	185694256		2203	4300	6503	SO:0001819	synonymous_variant	2180			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.894A>G	4.37:g.185694256T>C			B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415580	0.25552	.	.	ENSG00000151726	ENST00000505492	T	0.10860	2.83	5.82	-1.13	0.09775	.	0.124530	0.56097	D	0.000033	T	0.14056	0.0340	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04427	-1.0952	7	0.41790	T	0.15	-15.8532	7.189	0.25814	0.0:0.31:0.1102:0.5798	.	.	.	.	G	46	ENSP00000425640:S46G	ENSP00000425640:S46G	S	-	1	0	ACSL1	185931250	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	0.546000	0.23284	-0.105000	0.12132	-0.361000	0.07541	AGC		0.433	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		C	185694256	T	C	185694256	2	2	600	1	0	0	0	0	0	0	0	1	177	1567	55	3		3	ACSL1	4	185694256	Silent	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	56788750	185694256	5460020	45	32856											
ANKRD55	79722	broad.mit.edu;ucsc.edu	37	5	55407454	55407454	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:55407454T>C	ENST00000341048.4	-	10	1272	c.1121A>G	c.(1120-1122)gAc>gGc	p.D374G	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Missense_Mutation_p.D86G|ANKRD55_ENST00000504958.2_Missense_Mutation_p.D331G	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	374								p.D374G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TTCTGAGGTGTCCTCCTCTCT	0.478																																																1	Substitution - Missense(1)	kidney(1)											296	283	287					5																	55407454		2203	4300	6503	SO:0001583	missense	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1121A>G	5.37:g.55407454T>C	ENSP00000342295:p.Asp374Gly		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	CCDS34161.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	4.397|4.397	0.073365|0.073365	0.08485|0.08485	.|.	.|.	ENSG00000164512|ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982|ENST00000505970	T;T;T|.	0.38240|.	1.37;1.15;1.42|.	5.46|5.46	-1.42|-1.42	0.08913|0.08913	.|.	0.715259|.	0.13240|.	N|.	0.402940|.	T|T	0.09423|0.09423	0.0232|0.0232	N|N	0.03608|0.03608	-0.345|-0.345	0.22330|0.22330	N|N	0.999199|0.999199	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.30794|0.30794	-0.9966|-0.9966	10|6	0.25751|0.16420	T|T	0.34|0.52	.|.	2.9136|2.9136	0.05745|0.05745	0.1052:0.1857:0.1092:0.5998|0.1052:0.1857:0.1092:0.5998	.|.	374;373|.	B3KVT8;Q3KP44|.	.;ANR55_HUMAN|.	G|A	374;374;331;86|119	ENSP00000342295:D374G;ENSP00000424230:D331G;ENSP00000429421:D86G|.	ENSP00000342295:D374G|ENSP00000422370:T119A	D|T	-|-	2|1	0|0	ANKRD55|ANKRD55	55443211|55443211	0.988000|0.988000	0.35896|0.35896	0.118000|0.118000	0.21660|0.21660	0.125000|0.125000	0.20455|0.20455	2.391000|2.391000	0.44424|0.44424	-0.126000|-0.126000	0.11682|0.11682	-0.410000|-0.410000	0.06199|0.06199	GAC|ACA		0.478	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		C	55407454	T	C	55407454	3	2	600	1	0	0	0	0	1	0	0	0	681	1667	58	3	735	3	ANKRD55	5	55407454	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10		55407454	125507806	46	32857											
VCAN	1462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	82815673	82815673	+	Silent	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:82815673T>G	ENST00000265077.3	+	7	2113	c.1548T>G	c.(1546-1548)acT>acG	p.T516T	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Silent_p.T516T|VCAN_ENST00000512590.2_Silent_p.T468T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	516	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T516T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCCCTGTAACTGAAACACCAT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											124	123	123					5																	82815673		2203	4300	6503	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1548T>G	5.37:g.82815673T>G			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.388	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		G	82815673	T	G	82815673	2	3	600	1	0	0	0	0	0	0	0	1	17143	1567	55	5		5	VCAN	5	82815673	Silent	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	27408219	82815673	98099587	47	32858											
ANKRD32	84250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	93987546	93987546	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:93987546A>C	ENST00000265140.5	+	7	1297	c.878A>C	c.(877-879)aAt>aCt	p.N293T		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	293						centrosome (GO:0005813)|nucleus (GO:0005634)		p.N293T(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		ACATATGAAAATCAGGTACAA	0.219																																																1	Substitution - Missense(1)	kidney(1)											37	30	32					5																	93987546		692	1580	2272	SO:0001583	missense	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.878A>C	5.37:g.93987546A>C	ENSP00000265140:p.Asn293Thr		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	A	6.807	0.517924	0.13005	.	.	ENSG00000133302	ENST00000265140	T	0.40225	1.04	3.78	-1.88	0.07713	.	0.797596	0.09828	N	0.750524	T	0.19525	0.0469	N	0.20530	0.585	0.20764	N	0.999856	B	0.02656	0.0	B	0.01281	0.0	T	0.22138	-1.0225	10	0.19590	T	0.45	.	0.7537	0.00995	0.382:0.1753:0.1028:0.3399	.	293	Q9BQI6	ANR32_HUMAN	T	293	ENSP00000265140:N293T	ENSP00000265140:N293T	N	+	2	0	ANKRD32	94013302	0.909000	0.30893	0.463000	0.27130	0.395000	0.30598	-0.008000	0.12788	-0.301000	0.08882	0.482000	0.46254	AAT		0.219	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		C	93987546	A	C	93987546	3	2	600	1	0	0	0	0	1	0	0	0	660	101	4	5	900	5	ANKRD32	5	93987546	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	11171873	93987546	86927714	48	32859											
APC	324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112176941	112176941	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:112176941G>T	ENST00000457016.1	+	16	6030	c.5650G>T	c.(5650-5652)Gca>Tca	p.A1884S	APC_ENST00000508376.2_Missense_Mutation_p.A1884S|APC_ENST00000257430.4_Missense_Mutation_p.A1884S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1884	Highly charged.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)|p.A1884S(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATTAAGAAAGGCAAAAGAAAA	0.388		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	3	Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|kidney(1)|skin(1)											83	81	82					5																	112176941		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5650G>T	5.37:g.112176941G>T	ENSP00000413133:p.Ala1884Ser		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932290	0.34096	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.88586	-2.4;-2.4;-2.4	6.07	6.07	0.98685	.	0.097389	0.64402	D	0.000001	T	0.80048	0.4552	N	0.08118	0	0.27186	N	0.960533	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59648	-0.7415	9	.	.	.	-4.8616	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1886;1884	Q4LE70;P25054	.;APC_HUMAN	S	1884	ENSP00000413133:A1884S;ENSP00000257430:A1884S;ENSP00000427089:A1884S	.	A	+	1	0	APC	112204840	1.000000	0.71417	0.978000	0.43139	0.961000	0.63080	9.230000	0.95299	2.890000	0.99128	0.650000	0.86243	GCA		0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		T	112176941	G	T	112176941	3	4	600	1	0	0	0	0	1	0	0	0	763	1203	42	4	5708	4	APC	5	112176941	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	18189395	112176941	68738319	49	32860											
SEC24A	10802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	134002663	134002663	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:134002663T>A	ENST00000398844.2	+	3	1004	c.716T>A	c.(715-717)tTt>tAt	p.F239Y	SEC24A_ENST00000322887.4_Missense_Mutation_p.F239Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	239					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.F239Y(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCCCTTATTTAATTCAGCT	0.488																																																1	Substitution - Missense(1)	kidney(1)											48	46	47					5																	134002663		1826	4082	5908	SO:0001583	missense	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.716T>A	5.37:g.134002663T>A	ENSP00000381823:p.Phe239Tyr		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	T	8.415	0.845156	0.16963	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	T;T	0.45668	1.15;0.89	4.94	3.68	0.42216	.	0.846122	0.10460	N	0.672129	T	0.25865	0.0630	L	0.36672	1.1	0.20563	N	0.999889	B	0.27068	0.167	B	0.25614	0.062	T	0.37820	-0.9689	10	0.02654	T	1	-13.3066	5.1464	0.14987	0.1598:0.0857:0.0:0.7546	.	239	O95486	SC24A_HUMAN	Y	239	ENSP00000381823:F239Y;ENSP00000321749:F239Y	ENSP00000321749:F239Y	F	+	2	0	SEC24A	134030562	0.583000	0.26757	0.866000	0.34008	0.638000	0.38207	0.773000	0.26661	1.966000	0.57179	0.491000	0.48974	TTT		0.488	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			A	134002663	T	A	134002663	3	1	600	1	0	0	0	0	1	0	0	0	14000	1841	64	5	726	5	SEC24A	5	134002663	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	21825722	134002663	46912597	50	32861											
TRPC7	57113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	135561036	135561036	+	Missense_Mutation	SNP	G	G	C	rs369107882		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:135561036G>C	ENST00000513104.1	-	10	2551	c.2269C>G	c.(2269-2271)Cgc>Ggc	p.R757G	TRPC7_ENST00000426057.2_Missense_Mutation_p.R641G|TRPC7_ENST00000355180.3_Missense_Mutation_p.R696G	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	757					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R757G(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCTGGTAGCGAGTCTTCTGG	0.448																																																2	Substitution - Missense(2)	kidney(2)											110	109	109					5																	135561036		1942	4149	6091	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2269C>G	5.37:g.135561036G>C	ENSP00000426070:p.Arg757Gly		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.40|13.40	2.225746|2.225746	0.39300|0.39300	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.82255|.	-1.59;-1.59;-1.59|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.248356|.	0.42548|.	D|.	0.000683|.	T|T	0.71013|0.71013	0.3290|0.3290	L|L	0.54323|0.54323	1.7|1.7	0.43300|0.43300	D|D	0.995294|0.995294	B;B;B;B|.	0.34329|.	0.449;0.053;0.305;0.305|.	B;B;B;B|.	0.35353|.	0.201;0.068;0.111;0.111|.	T|T	0.68179|0.68179	-0.5477|-0.5477	10|5	0.22109|.	T|.	0.4|.	-13.7493|-13.7493	18.4989|18.4989	0.90875|0.90875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	641;696;702;757|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	G|W	696;641;757;757|640;695;701	ENSP00000347312:R696G;ENSP00000441628:R641G;ENSP00000426070:R757G|.	ENSP00000265193:R757G|.	R|S	-|-	1|2	0|0	TRPC7|TRPC7	135588935|135588935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	5.746000|5.746000	0.68681|0.68681	2.605000|2.605000	0.88082|0.88082	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.448	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		C	135561036	G	C	135561036	3	2	600	1	0	0	0	0	1	0	0	0	16589	1058	37	4	331	4	TRPC7	5	135561036	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	1558373	135561036	45354224	51	32862											
RBM27	54439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145643071	145643071	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:145643071G>C	ENST00000265271.5	+	14	2374	c.2208G>C	c.(2206-2208)caG>caC	p.Q736H	RBM27_ENST00000506502.1_Missense_Mutation_p.Q681H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	736					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q736H(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAACCACAGACATCAGGTG	0.378																																																1	Substitution - Missense(1)	kidney(1)											193	159	169					5																	145643071		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2208G>C	5.37:g.145643071G>C	ENSP00000265271:p.Gln736His		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064723	0.36470	.	.	ENSG00000091009	ENST00000265271	T	0.43294	0.95	5.59	3.48	0.39840	.	0.236064	0.32753	N	0.005699	T	0.20861	0.0502	N	0.19112	0.55	0.26161	N	0.980006	P;P	0.46277	0.875;0.804	B;B	0.38327	0.271;0.133	T	0.09596	-1.0667	10	0.10636	T	0.68	-9.1624	7.9122	0.29798	0.1553:0.0:0.7111:0.1336	.	736;681	Q9P2N5;B3KY61	RBM27_HUMAN;.	H	736	ENSP00000265271:Q736H	ENSP00000265271:Q736H	Q	+	3	2	RBM27	145623264	0.992000	0.36948	0.999000	0.59377	0.973000	0.67179	1.431000	0.34925	1.363000	0.46019	0.650000	0.86243	CAG		0.378	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		C	145643071	G	C	145643071	3	2	600	1	0	0	0	0	1	0	0	0	13133	933	33	4	2262	4	RBM27	5	145643071	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	10082035	145643071	35272189	52	32863											
UBLCP1	134510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	158697539	158697539	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:158697539A>T	ENST00000296786.6	+	5	662	c.336A>T	c.(334-336)gaA>gaT	p.E112D		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	112						nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)	p.E112D(1)		endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATTAGGGAAGAAAACCTAC	0.343																																																1	Substitution - Missense(1)	kidney(1)											59	63	62					5																	158697539		2202	4299	6501	SO:0001583	missense	134510			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.336A>T	5.37:g.158697539A>T	ENSP00000296786:p.Glu112Asp		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.856175	0.51376	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.79	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	L	0.58669	1.825	0.50813	D	0.999892	D	0.54964	0.969	P	0.48654	0.585	T	0.44922	-0.9296	9	0.32370	T	0.25	-26.469	10.2553	0.43394	0.8568:0.0:0.1432:0.0	.	112	Q8WVY7	UBCP1_HUMAN	D	112	.	ENSP00000296786:E112D	E	+	3	2	UBLCP1	158630117	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	2.377000	0.44300	0.370000	0.24538	0.460000	0.39030	GAA		0.343	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		T	158697539	A	T	158697539	3	4	600	1	0	0	0	0	1	0	0	0	16896	69	3	5	350	5	UBLCP1	5	158697539	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	13054468	158697539	22217721	53	32864											
DRD1	1812	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	174869226	174869226	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:174869226A>T	ENST00000393752.2	-	2	1869	c.877T>A	c.(877-879)Tgc>Agc	p.C293S		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	293					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.C293S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGCAAAATGCAGTTCAAGATG	0.458																																																1	Substitution - Missense(1)	kidney(1)											67	68	68					5																	174869226		2203	4300	6503	SO:0001583	missense	1812			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.877T>A	5.37:g.174869226A>T	ENSP00000377353:p.Cys293Ser		B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333284	0.60853	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.36340	1.26	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56481	-0.7972	10	0.66056	D	0.02	.	14.7261	0.69346	1.0:0.0:0.0:0.0	.	293	P21728	DRD1_HUMAN	S	293	ENSP00000377353:C293S	ENSP00000327652:C293S	C	-	1	0	DRD1	174801832	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	9.157000	0.94714	2.144000	0.66660	0.528000	0.53228	TGC		0.458	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		T	174869226	A	T	174869226	3	4	600	1	0	0	0	0	1	0	0	0	4758	188	7	5	467	5	DRD1	5	174869226	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	16171687	174869226	6046034	54	32865											
DPCR1	135656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	30916609	30916609	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr6:30916609A>T	ENST00000462446.1	+	2	396	c.368A>T	c.(367-369)gAa>gTa	p.E123V	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	123						integral component of membrane (GO:0016021)		p.E123V(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ACTTCTGAAGAAAACTCCAGC	0.468																																																2	Substitution - Missense(2)	kidney(2)											61	50	53					6																	30916609		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.368A>T	6.37:g.30916609A>T	ENSP00000417182:p.Glu123Val		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	A	15.44	2.834559	0.50951	.	.	ENSG00000168631	ENST00000462446;ENST00000450344	T	0.44083	0.93	3.29	3.29	0.37713	.	.	.	.	.	T	0.14356	0.0347	N	0.14661	0.345	0.40556	D	0.981168	P	0.52316	0.952	B	0.41036	0.346	T	0.04840	-1.0923	9	0.72032	D	0.01	-0.35	10.2285	0.43241	1.0:0.0:0.0:0.0	.	123	E9PEI6	.	V	123	ENSP00000417182:E123V	ENSP00000411741:E123V	E	+	2	0	DPCR1	31024588	0.007000	0.16637	0.003000	0.11579	0.031000	0.12232	1.579000	0.36536	1.730000	0.51580	0.402000	0.26972	GAA		0.468	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		T	30916609	A	T	30916609	3	4	600	1	0	0	0	0	1	0	0	0	4714	246	9	5	374	5	DPCR1	6	30916609	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10		30916609	140198458	55	32866											
PHF3	23469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	64395089	64395089	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr6:64395089A>T	ENST00000262043.3	+	4	1806	c.1466A>T	c.(1465-1467)aAa>aTa	p.K489I	PHF3_ENST00000509330.1_Missense_Mutation_p.K489I|PHF3_ENST00000393387.1_Missense_Mutation_p.K489I			Q92576	PHF3_HUMAN	PHD finger protein 3	489					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K489I(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTAAAATCCAAACATACAAAA	0.353																																					GBM(135;136 1820 29512 34071 46235)											1	Substitution - Missense(1)	kidney(1)											38	41	40					6																	64395089		2200	4296	6496	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1466A>T	6.37:g.64395089A>T	ENSP00000262043:p.Lys489Ile		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	7.515	0.655499	0.14580	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.53423	1.89;1.57;1.96;1.6;0.62;1.96	5.98	5.98	0.97165	.	0.000000	0.42172	D	0.000746	T	0.50582	0.1624	L	0.60455	1.87	0.29952	N	0.820184	D;D	0.89917	0.999;1.0	P;D	0.76575	0.897;0.988	T	0.58008	-0.7712	10	0.87932	D	0	-30.625	8.4313	0.32759	0.8519:0.0:0.1481:0.0	.	489;489	Q92576;D6R9X2	PHF3_HUMAN;.	I	303;401;489;442;489;489	ENSP00000424694:K303I;ENSP00000425227:K401I;ENSP00000262043:K489I;ENSP00000424078:K442I;ENSP00000422841:K489I;ENSP00000377048:K489I	ENSP00000262043:K489I	K	+	2	0	PHF3	64453048	0.997000	0.39634	0.991000	0.47740	0.071000	0.16799	2.849000	0.48286	2.289000	0.77006	0.482000	0.46254	AAA		0.353	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			T	64395089	A	T	64395089	3	4	600	1	0	0	0	0	1	0	0	0	11838	14	1	5	1476	5	PHF3	6	64395089	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	33478480	64395089	106719978	56	32867											
ASCC3	10973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	101248212	101248212	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr6:101248212A>T	ENST00000369162.2	-	6	1435	c.1091T>A	c.(1090-1092)cTt>cAt	p.L364H	ASCC3_ENST00000522650.1_Missense_Mutation_p.L364H	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	364					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.L364H(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAGCACATAAGTCCTTCTGA	0.353																																																1	Substitution - Missense(1)	kidney(1)											157	151	153					6																	101248212		2203	4300	6503	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1091T>A	6.37:g.101248212A>T	ENSP00000358159:p.Leu364His		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	7.730	0.698994	0.15106	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.51071	0.72;0.72	5.41	4.25	0.50352	.	0.324485	0.29480	N	0.012039	T	0.16471	0.0396	L	0.36672	1.1	0.09310	N	0.999999	P;B	0.39131	0.661;0.232	B;B	0.40329	0.326;0.117	T	0.07539	-1.0767	10	0.25751	T	0.34	.	4.0987	0.10004	0.6741:0.1296:0.0715:0.1248	.	364;364	E7EW23;Q8N3C0	.;HELC1_HUMAN	H	364	ENSP00000358159:L364H;ENSP00000430769:L364H	ENSP00000358159:L364H	L	-	2	0	ASCC3	101354933	0.543000	0.26434	0.173000	0.22940	0.937000	0.57800	1.907000	0.39897	0.898000	0.36418	0.459000	0.35465	CTT		0.353	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		T	101248212	A	T	101248212	3	4	600	1	0	0	0	0	1	0	0	0	1033	72	3	5	5665	5	ASCC3	6	101248212	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	36853123	101248212	69866855	57	32868											
REV3L	5980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	111694884	111694885	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr6:111694884_111694885insT	ENST00000358835.3	-	14	5127_5128	c.4673_4674insA	c.(4672-4674)aatfs	p.N1558fs	REV3L_ENST00000435970.1_Frame_Shift_Ins_p.N1480fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.N1558fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.N1558fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1558					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAATATTTTTATTTGGTTGATG	0.371								DNA polymerases (catalytic subunits)																																								0																																										SO:0001589	frameshift_variant	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4674dupA	6.37:g.111694887_111694887dupT	ENSP00000351697:p.Asn1558fs		O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	CCDS5091.2																																																																																				0.371	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		T	111694885	-	T	111694884	7	5	600	1	0	1	1	0	0	0	0	0	13246	446	16	0	4798	0	REV3L	6	111694884	Frame_Shift_Ins	INS	-	TCGA-CZ-5468-01A-01D-1501-10	10446672	111694884	59420183	58	32869											
CDK13	8621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	40134425	40134425	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:40134425A>G	ENST00000181839.4	+	14	4990	c.4385A>G	c.(4384-4386)tAt>tGt	p.Y1462C	CDK13_ENST00000340829.5_Missense_Mutation_p.Y1402C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1462					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.Y1462C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AACTATAACTATGGTGGTAAC	0.512																																																1	Substitution - Missense(1)	kidney(1)											93	81	85					7																	40134425		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4385A>G	7.37:g.40134425A>G	ENSP00000181839:p.Tyr1462Cys		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087422	0.36855	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.50277	0.75;0.75	5.28	4.12	0.48240	.	.	.	.	.	T	0.60612	0.2282	L	0.53249	1.67	0.44611	D	0.997587	D;B	0.76494	0.999;0.005	D;B	0.81914	0.995;0.003	T	0.57700	-0.7766	8	.	.	.	-1.5391	11.131	0.48347	0.9271:0.0:0.0729:0.0	.	1402;1462	Q14004-2;Q14004	.;CDK13_HUMAN	C	1462;1402	ENSP00000181839:Y1462C;ENSP00000340557:Y1402C	.	Y	+	2	0	CDK13	40100950	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.991000	0.70602	0.856000	0.35383	-0.296000	0.09543	TAT		0.512	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		G	40134425	A	G	40134425	3	3	600	1	0	0	0	0	1	0	0	0	3131	449	16	3	4439	3	CDK13	7	40134425	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10		40134425	119004238	59	32870											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82595299	82595299	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:82595299delC	ENST00000333891.9	-	4	4142	c.3805delG	c.(3805-3807)gtafs	p.V1269fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.V1269fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCAATTTGTACTTGAGATTTA	0.438																																																0													213	209	210					7																	82595299		1888	4121	6009	SO:0001589	frameshift_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3805delG	7.37:g.82595299delC	ENSP00000334319:p.Val1269fs			Frame_Shift_Del	DEL	ENST00000333891.9	37	CCDS47630.1																																																																																				0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		-	82595299	C	-	82595299	7	5	600	1	0	1	0	1	0	0	0	0	11585	565	20	0	11728	0	PCLO	7	82595299	Frame_Shift_Del	DEL	C	TCGA-CZ-5468-01A-01D-1501-10	42460874	82595299	76543364	60	32871											
ZNF804B	219578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	88966113	88966113	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:88966113G>A	ENST00000333190.4	+	4	4426	c.3817G>A	c.(3817-3819)Gct>Act	p.A1273T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1273							metal ion binding (GO:0046872)	p.A1273T(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTAGTAGCTGCTACCCCCTT	0.473										HNSCC(36;0.09)																																						1	Substitution - Missense(1)	kidney(1)											237	201	213					7																	88966113		2203	4300	6503	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3817G>A	7.37:g.88966113G>A	ENSP00000329638:p.Ala1273Thr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005591	0.35415	.	.	ENSG00000182348	ENST00000333190	T	0.20463	2.07	4.99	2.22	0.28083	.	0.296596	0.29376	N	0.012326	T	0.10680	0.0261	L	0.27053	0.805	0.35442	D	0.794925	P	0.41475	0.751	B	0.29663	0.105	T	0.28870	-1.0030	10	0.30854	T	0.27	-2.3282	10.118	0.42603	0.2775:0.0:0.7225:0.0	.	1273	A4D1E1	Z804B_HUMAN	T	1273	ENSP00000329638:A1273T	ENSP00000329638:A1273T	A	+	1	0	ZNF804B	88804049	0.914000	0.31030	0.301000	0.25044	0.955000	0.61496	1.600000	0.36762	0.384000	0.24942	0.655000	0.94253	GCT		0.473	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		A	88966113	G	A	88966113	3	1	600	1	0	0	0	0	1	0	0	0	18176	1319	46	2	3831	2	ZNF804B	7	88966113	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	6370814	88966113	70172550	61	32872											
CNPY4	245812	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99722440	99722440	+	Missense_Mutation	SNP	G	G	C	rs187806620		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:99722440G>C	ENST00000262932.3	+	6	808	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	226	Glu-rich.					extracellular region (GO:0005576)		p.E226Q(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ggaggaagaggaggaagagga	0.532																																																1	Substitution - Missense(1)	kidney(1)											146	139	141					7																	99722440		2203	4300	6503	SO:0001583	missense	245812			AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.676G>C	7.37:g.99722440G>C	ENSP00000262932:p.Glu226Gln		Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	3.314	-0.140163	0.06669	.	.	ENSG00000166997	ENST00000262932	T	0.32988	1.43	0.758	0.758	0.18432	.	.	.	.	.	T	0.12817	0.0311	N	0.24115	0.695	0.09310	N	1	P	0.39094	0.659	B	0.16722	0.016	T	0.14200	-1.0481	9	0.33940	T	0.23	.	4.8127	0.13351	0.0:0.0:1.0:0.0	.	226	Q8N129	CNPY4_HUMAN	Q	226	ENSP00000262932:E226Q	ENSP00000262932:E226Q	E	+	1	0	CNPY4	99560376	0.106000	0.21978	0.071000	0.20095	0.184000	0.23303	0.123000	0.15708	0.697000	0.31718	0.561000	0.74099	GAG		0.532	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		C	99722440	G	C	99722440	3	2	600	1	0	0	0	0	1	0	0	0	3632	1175	41	4	698	4	CNPY4	7	99722440	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	10756327	99722440	59416223	62	32873											
PSMC2	5701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	103008447	103008447	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:103008447C>T	ENST00000435765.1	+	13	1659	c.1248C>T	c.(1246-1248)gtC>gtT	p.V416V	PSMC2_ENST00000292644.3_Silent_p.V416V|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Silent_p.V279V|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	416					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)|ATP catabolic process (GO:0006200)|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)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V416V(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TAAATAAGGTCATTAAGTCTT	0.418																																																1	Substitution - coding silent(1)	kidney(1)											82	79	80					7																	103008447		2203	4300	6503	SO:0001819	synonymous_variant	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1248C>T	7.37:g.103008447C>T			A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	CCDS5731.1																																																																																				0.418	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		T	103008447	C	T	103008447	2	4	600	1	0	0	0	0	0	0	0	1	12691	813	29	2		2	PSMC2	7	103008447	Silent	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	3286007	103008447	56130216	63	32874											
RELN	5649	hgsc.bcm.edu;ucsc.edu	37	7	103293088	103293088	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:103293088delA	ENST00000428762.1	-	14	1832	c.1673delT	c.(1672-1674)ttcfs	p.F558fs	RELN_ENST00000424685.2_Frame_Shift_Del_p.F558fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.F558fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	558					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAAGACATGGAAAAAGTCTAC	0.448																																					NSCLC(146;835 1944 15585 22231 52158)											0													158	154	155					7																	103293088		2203	4300	6503	SO:0001589	frameshift_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1673delT	7.37:g.103293088delA	ENSP00000392423:p.Phe558fs		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Frame_Shift_Del	DEL	ENST00000428762.1	37	CCDS47680.1																																																																																				0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		-	103293088	A	-	103293088	7	5	600	1	0	1	0	1	0	0	0	0	13226	246	9	0	8917	0	RELN	7	103293088	Frame_Shift_Del	DEL	A	TCGA-CZ-5468-01A-01D-1501-10	284641	103293088	55845575	64	32875											
ASB15	142685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123267202	123267202	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:123267202G>T	ENST00000451558.1	+	11	1257	c.736G>T	c.(736-738)Gtg>Ttg	p.V246L	RP11-390E23.3_ENST00000451016.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.V246L|RP11-390E23.3_ENST00000429396.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.V246L|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.V246L|ASB15_ENST00000451215.1_Missense_Mutation_p.V246L			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	246					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.V246L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGGGGCGTCGGTGCTGTTTGA	0.498																																																1	Substitution - Missense(1)	kidney(1)											181	143	156					7																	123267202		2203	4300	6503	SO:0001583	missense	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.736G>T	7.37:g.123267202G>T	ENSP00000397655:p.Val246Leu		Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044018	0.36085	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.57	4.67	0.58626	Ankyrin repeat-containing domain (4);	0.201156	0.33515	N	0.004825	T	0.45074	0.1324	N	0.17594	0.5	0.43160	D	0.994946	B	0.15141	0.012	B	0.23574	0.047	T	0.35919	-0.9769	10	0.39692	T	0.17	-11.5822	9.2746	0.37692	0.1147:0.1327:0.7526:0.0	.	246	Q8WXK1	ASB15_HUMAN	L	246;246;246;246;35;246	ENSP00000397655:V246L;ENSP00000390963:V246L;ENSP00000416433:V246L;ENSP00000438643:V246L;ENSP00000275699:V246L	ENSP00000275699:V246L	V	+	1	0	ASB15	123054438	0.891000	0.30450	0.032000	0.17829	0.373000	0.29922	1.308000	0.33528	1.310000	0.45006	0.557000	0.71058	GTG		0.498	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			T	123267202	G	T	123267202	3	4	600	1	0	0	0	0	1	0	0	0	1019	1261	44	4	758	4	ASB15	7	123267202	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	19974114	123267202	35871461	65	32876											
CCDC136	64753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	128434749	128434749	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:128434749G>A	ENST00000297788.4	+	3	640	c.273G>A	c.(271-273)ggG>ggA	p.G91G	CCDC136_ENST00000378685.4_Splice_Site_p.G141G|CCDC136_ENST00000464832.1_Splice_Site_p.G141G|CCDC136_ENST00000487361.1_Splice_Site_p.G91G	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	91	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G91G(2)|p.G207G(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TCCCTGCAGGGCTCCTGGAGG	0.652																																																3	Substitution - coding silent(3)	kidney(3)											17	20	19					7																	128434749		1729	3703	5432	SO:0001630	splice_region_variant	64753				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.272-1G>A	7.37:g.128434749G>A			A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	CCDS47704.1																																																																																				0.652	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	Silent	A	128434749	G	A	128434749	5	1	600	1	0	0	0	0	0	0	1	0	2772	1217	42	2	283	2	CCDC136	7	128434749	Splice_Site	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	5167547	128434749	30703914	66	32877											
UBN2	254048	broad.mit.edu;hgsc.bcm.edu	37	7	138958118	138958118	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:138958118A>G	ENST00000473989.3	+	10	1791	c.1791A>G	c.(1789-1791)atA>atG	p.I597M	UBN2_ENST00000288561.8_Missense_Mutation_p.I514M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	597						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.I514M(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AACGTGTCATAGGACCAAGAA	0.318																																																1	Substitution - Missense(1)	kidney(1)											152	146	148					7																	138958118		1846	4097	5943	SO:0001583	missense	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1791A>G	7.37:g.138958118A>G	ENSP00000418648:p.Ile597Met		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	CCDS43655.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.381|3.381	-0.126299|-0.126299	0.06795|0.06795	.|.	.|.	ENSG00000157741|ENSG00000157741	ENST00000473989;ENST00000288561|ENST00000483726	T;T|.	0.40756|.	1.02;1.02|.	5.44|5.44	-2.4|-2.4	0.06583|0.06583	.|.	0.134911|.	0.64402|.	D|.	0.000005|.	T|.	0.06508|.	0.0167|.	N|N	0.00823|0.00823	-1.155|-1.155	0.30559|0.30559	N|N	0.764707|0.764707	B|.	0.19445|.	0.036|.	B|.	0.22880|.	0.042|.	T|.	0.37842|.	-0.9688|.	10|.	0.02654|.	T|.	1|.	-10.6821|-10.6821	1.1278|1.1278	0.01739|0.01739	0.3125:0.3026:0.1142:0.2707|0.3125:0.3026:0.1142:0.2707	.|.	597|.	Q6ZU65|.	UBN2_HUMAN|.	M|W	597;514|366	ENSP00000418648:I597M;ENSP00000288561:I514M|.	ENSP00000288561:I514M|.	I|X	+|+	3|2	3|0	UBN2|UBN2	138608658|138608658	0.997000|0.997000	0.39634|0.39634	0.996000|0.996000	0.52242|0.52242	0.983000|0.983000	0.72400|0.72400	0.415000|0.415000	0.21181|0.21181	-0.190000|-0.190000	0.10465|0.10465	0.477000|0.477000	0.44152|0.44152	ATA|TAG		0.318	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		G	138958118	A	G	138958118	3	3	600	1	0	0	0	0	1	0	0	0	16898	410	15	3	1829	3	UBN2	7	138958118	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	10523369	138958118	20180545	67	32878											
C8orf79	57604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	12879542	12879542	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr8:12879542G>C	ENST00000524591.2	+	5	1843	c.1354G>C	c.(1354-1356)Ggt>Cgt	p.G452R	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	452							methyltransferase activity (GO:0008168)	p.G365R(1)|p.G452R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAAAAAGAGAGGTTGTGATTG	0.423																																																2	Substitution - Missense(2)	kidney(2)											54	51	52					8																	12879542		1863	4100	5963	SO:0001583	missense	0			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.1354G>C	8.37:g.12879542G>C	ENSP00000432695:p.Gly452Arg		Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.679194	0.29783	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.11385	2.78	4.74	3.6	0.41247	.	1.016650	0.07837	N	0.962320	T	0.07954	0.0199	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	10	0.17369	T	0.5	-1.2615	8.3308	0.32184	0.8324:0.0:0.1676:0.0	.	452	Q9P272	K1456_HUMAN	R	452;365	ENSP00000432695:G452R	ENSP00000432695:G452R	G	+	1	0	AC135352.2	12923913	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	0.383000	0.20651	0.967000	0.38186	-0.269000	0.10298	GGT		0.423	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		C	12879542	G	C	12879542	3	2	600	1	0	0	0	0	1	0	0	0	2440	1000	35	4	1364	4	C8orf79	8	12879542	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10		12879542	133484480	68	32879											
COPS5	10987	hgsc.bcm.edu;ucsc.edu	37	8	67968826	67968826	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr8:67968826delG	ENST00000357849.4	-	5	907	c.587delC	c.(586-588)cctfs	p.P196fs	AC109335.1_ENST00000578628.1_RNA|PPP1R42_ENST00000517834.1_5'UTR|COPS5_ENST00000517736.1_Frame_Shift_Del_p.P132fs	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	196					cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCCTTCATCAGGAGGTTTGTA	0.259																																																0													77	77	77					8																	67968826		2203	4300	6503	SO:0001589	frameshift_variant	10987			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5", "COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.587delC	8.37:g.67968826delG	ENSP00000350512:p.Pro196fs		O15386|Q6AW95|Q86WQ4|Q9BQ17	Frame_Shift_Del	DEL	ENST00000357849.4	37	CCDS6198.1																																																																																				0.259	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			-	67968826	G	-	67968826	7	5	600	1	0	1	0	1	0	0	0	0	3738	1000	35	0	433	0	COPS5	8	67968826	Frame_Shift_Del	DEL	G	TCGA-CZ-5468-01A-01D-1501-10	55089284	67968826	78395196	69	32880											
ZHX1	11244	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	124265779	124265779	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr8:124265779A>T	ENST00000522655.1	-	3	2948	c.2408T>A	c.(2407-2409)cTt>cAt	p.L803H	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.L803H|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.L803H			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	803					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L803H(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTGTTAACAAGTTCATCAAG	0.368																																																1	Substitution - Missense(1)	kidney(1)											187	186	186					8																	124265779		2203	4300	6503	SO:0001583	missense	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.2408T>A	8.37:g.124265779A>T	ENSP00000428821:p.Leu803His		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.015689|4.015689	0.75161|0.75161	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	T;T;T|T	0.55052|0.57595	0.54;0.54;0.54|0.39	5.8|5.8	5.8|5.8	0.92144|0.92144	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.69468|0.69468	0.3114|0.3114	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.68765|.	0.96|.	T|T	0.73353|0.73353	-0.4009|-0.4009	9|7	0.87932|0.87932	D|D	0|0	-8.0411|-8.0411	16.1484|16.1484	0.81586|0.81586	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	803|.	Q9UKY1|.	ZHX1_HUMAN|.	H|M	803|488	ENSP00000297857:L803H;ENSP00000378938:L803H;ENSP00000428821:L803H|ENSP00000428676:L488M	ENSP00000297857:L803H|ENSP00000428676:L488M	L|L	-|-	2|1	0|2	ZHX1|ZHX1	124334960|124334960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.757000|6.757000	0.74924|0.74924	2.226000|2.226000	0.72624|0.72624	0.459000|0.459000	0.35465|0.35465	CTT|TTG		0.368	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			T	124265779	A	T	124265779	3	4	600	1	0	0	0	0	1	0	0	0	17680	72	3	5	217	5	ZHX1	8	124265779	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	56296953	124265779	22098243	70	32881											
ZFAT	57623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	135622881	135622881	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr8:135622881C>G	ENST00000377838.3	-	4	640	c.466G>C	c.(466-468)Gaa>Caa	p.E156Q	ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000520727.1_Missense_Mutation_p.E144Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.E144Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.E144Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.E144Q	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	156					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E156Q(1)|p.E144Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTTTCTAGTTCAAGGTCAGAC	0.438																																																2	Substitution - Missense(2)	kidney(2)											150	139	142					8																	135622881		1917	4122	6039	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.466G>C	8.37:g.135622881C>G	ENSP00000367069:p.Glu156Gln		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534336	0.45073	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000398946;ENST00000522257	T;T;T;T;T;T	0.46819	2.99;2.93;2.94;2.92;2.93;0.86	5.36	5.36	0.76844	.	0.456353	0.23549	N	0.046983	T	0.40423	0.1116	L	0.27053	0.805	0.80722	D	1	B;P;B	0.37330	0.201;0.59;0.319	B;B;B	0.43082	0.143;0.407;0.096	T	0.24261	-1.0165	10	0.37606	T	0.19	-15.7406	11.5429	0.50677	0.0:0.9183:0.0:0.0817	.	144;144;156	E9PBN4;Q9P243-3;Q9P243	.;.;ZFAT_HUMAN	Q	144;144;144;156;144;144;144;94	ENSP00000427879:E144Q;ENSP00000427831:E144Q;ENSP00000394501:E144Q;ENSP00000367069:E156Q;ENSP00000428483:E144Q;ENSP00000429983:E94Q	ENSP00000326997:E144Q	E	-	1	0	ZFAT	135692063	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	2.341000	0.43983	2.498000	0.84270	0.655000	0.94253	GAA		0.438	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		G	135622881	C	G	135622881	3	3	600	1	0	0	0	0	1	0	0	0	17637	835	29	4	3317	4	ZFAT	8	135622881	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	11357102	135622881	10741141	71	32882											
EIF2C2	27161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141559351	141559352	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr8:141559351_141559352GC>CA	ENST00000220592.5	-	12	1561_1562	c.1449_1450GC>TG	c.(1447-1452)atGCcc>atTGcc	p.483_484MP>IA	AGO2_ENST00000519980.1_Missense_Mutation_p.483_484MP>IA	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	483					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.M483I(1)|p.P484A(1)									CCCTGGATGGGCATGCCGGCGT	0.619																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1449_1450delinsCA	8.37:g.141559351_141559352delinsCA	ENSP00000220592:p.M483_P484delinsIA		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	CCDS6380.1																																																																																				0.619	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			CA	141559352	GC	CA	141559351	3	2	600	1	0	0	0	0	1	0	0	0	5008	1203	42	4	1161	4	EIF2C2	8	141559351	Missense_Mutation	DNP	GC	TCGA-CZ-5468-01A-01D-1501-10	5936470	141559351	4804671	72	32883											
TYRP1	7306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	12708083	12708083	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr9:12708083A>G	ENST00000388918.5	+	7	1477	c.1348A>G	c.(1348-1350)Aca>Gca	p.T450A	TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381136.2_Missense_Mutation_p.T160A|TYRP1_ENST00000381137.2_Missense_Mutation_p.T159A|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	450					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T450A(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AGTCACCAACACAGAAATGTT	0.378									Oculocutaneous Albinism																																							1	Substitution - Missense(1)	kidney(1)											78	78	78					9																	12708083		2203	4300	6503	SO:0001583	missense	7306	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1348A>G	9.37:g.12708083A>G	ENSP00000373570:p.Thr450Ala		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	A	8.500	0.864003	0.17250	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.98666	-5.06;-5.06;-5.06	5.68	2.88	0.33553	Uncharacterised domain, di-copper centre (2);	0.578821	0.20576	N	0.089639	D	0.93242	0.7847	N	0.05487	-0.04	0.23926	N	0.996441	B	0.02656	0.0	B	0.04013	0.001	D	0.84772	0.0768	10	0.10636	T	0.68	-29.7774	8.9992	0.36072	0.8169:0.0:0.1831:0.0	.	450	P17643	TYRP1_HUMAN	A	159;450;160	ENSP00000370529:T159A;ENSP00000373570:T450A;ENSP00000370528:T160A	ENSP00000370528:T160A	T	+	1	0	TYRP1	12698083	0.991000	0.36638	0.946000	0.38457	0.997000	0.91878	1.123000	0.31308	0.683000	0.31428	0.482000	0.46254	ACA		0.378	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		G	12708083	A	G	12708083	3	3	600	1	0	0	0	0	1	0	0	0	16821	159	6	3	1370	3	TYRP1	9	12708083	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10		12708083	128505348	73	32884											
NOL6	65083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	33469655	33469655	+	Missense_Mutation	SNP	T	T	A	rs558159929		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr9:33469655T>A	ENST00000379471.2	-	5	656	c.569A>T	c.(568-570)cAg>cTg	p.Q190L	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.Q130L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	190					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q190L(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTCCTTGTCCTGTAGGATTTC	0.612																																																1	Substitution - Missense(1)	kidney(1)											87	98	94					9																	33469655		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.569A>T	9.37:g.33469655T>A	ENSP00000368784:p.Gln190Leu		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	T	24.4	4.524125	0.85600	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.68	5.68	0.88126	.	0.163318	0.56097	D	0.000026	T	0.64929	0.2643	L	0.58583	1.82	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.983;0.999	D;D;D;P;D	0.74674	0.984;0.973;0.973;0.799;0.978	T	0.64639	-0.6360	10	0.45353	T	0.12	.	15.9269	0.79624	0.0:0.0:0.0:1.0	.	130;190;190;190;190	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	L	190;190;190;190;130	ENSP00000313978:Q190L;ENSP00000297990:Q190L;ENSP00000368784:Q190L;ENSP00000395915:Q130L	ENSP00000297990:Q190L	Q	-	2	0	NOL6	33459655	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.599000	0.67592	2.174000	0.68829	0.459000	0.35465	CAG		0.612	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		A	33469655	T	A	33469655	3	1	600	1	0	0	0	0	1	0	0	0	10527	1580	55	5	2959	5	NOL6	9	33469655	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	20761572	33469655	107743776	74	32885											
C9orf41	138199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	77632363	77632363	+	Splice_Site	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr9:77632363T>C	ENST00000376834.3	-	2	384	c.232A>G	c.(232-234)Acc>Gcc	p.T78A	C9orf41_ENST00000376837.3_Splice_Site_p.T78A|RP11-197P3.5_ENST00000455336.2_RNA|C9orf41_ENST00000376830.3_Splice_Site_p.T78A	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	78								p.T78A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TGCATACTGGTGCTAAAACAT	0.368																																																2	Substitution - Missense(2)	kidney(2)											105	99	101					9																	77632363		2203	4300	6503	SO:0001630	splice_region_variant	138199			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.231-1A>G	9.37:g.77632363T>C			Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.354518	0.24512	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000451153;ENST00000376830	.	.	.	5.76	5.76	0.90799	.	0.198515	0.53938	D	0.000050	T	0.37293	0.0998	L	0.28192	0.835	0.39193	D	0.963007	P	0.34977	0.478	B	0.31442	0.13	T	0.31081	-0.9956	9	0.08599	T	0.76	-9.6921	16.3786	0.83431	0.0:0.0:0.0:1.0	.	78	Q8N4J0	CI041_HUMAN	A	78;78;17;78	.	ENSP00000366026:T78A	T	-	1	0	C9orf41	76822183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.459000	0.53021	2.323000	0.78572	0.528000	0.53228	ACC		0.368	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420	Missense_Mutation	C	77632363	T	C	77632363	5	2	600	1	0	0	0	0	0	0	1	0	2484	1710	59	3	1025	3	C9orf41	9	77632363	Splice_Site	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	44162708	77632363	63581068	75	32886											
DIP2C	22982	broad.mit.edu;ucsc.edu	37	10	409187	409187	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr10:409187G>T	ENST00000280886.6	-	21	2629	c.2542C>A	c.(2542-2544)Cct>Act	p.P848T	DIP2C_ENST00000540204.1_Missense_Mutation_p.P169T|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	848						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P848T(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTGGAGTCAGGCCTCTGCTCA	0.637																																																1	Substitution - Missense(1)	kidney(1)											177	118	138					10																	409187		2203	4300	6503	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2542C>A	10.37:g.409187G>T	ENSP00000280886:p.Pro848Thr		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825901	0.71143	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.48522	2.7;0.81	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	M	0.74467	2.265	0.80722	D	1	D;P	0.89917	1.0;0.866	D;P	0.91635	0.999;0.566	T	0.66464	-0.5917	10	0.35671	T	0.21	-28.1405	20.0172	0.97481	0.0:0.0:1.0:0.0	.	169;848	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	T	848;169	ENSP00000280886:P848T;ENSP00000443826:P169T	ENSP00000280886:P848T	P	-	1	0	DIP2C	399187	1.000000	0.71417	0.996000	0.52242	0.647000	0.38526	8.054000	0.89451	2.731000	0.93534	0.557000	0.71058	CCT		0.637	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	409187	G	T	409187	3	4	600	1	0	0	0	0	1	0	0	0	4531	1203	42	4	2196	4	DIP2C	10	409187	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10		409187	135125560	76	32887											
KIN	509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	7829795	7829795	+	5'Flank	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr10:7829795C>T	ENST00000356708.7	+	0	0				KIN_ENST00000535925.1_Silent_p.Q34Q|ATP5C1_ENST00000541227.1_5'Flank|KIN_ENST00000543003.1_De_novo_Start_OutOfFrame|ATP5C1_ENST00000335698.4_5'Flank|KIN_ENST00000379562.4_Silent_p.Q34Q	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1						ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.Q34Q(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CGTCCCGGCACTGCTTCTGGC	0.637																																					Melanoma(143;1012 1820 16249 30920 33158)											1	Substitution - coding silent(1)	kidney(1)											98	99	99					10																	7829795		2203	4300	6503	SO:0001631	upstream_gene_variant	22944			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639		10.37:g.7829795C>T	Exception_encountered		A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Silent	SNP	ENST00000356708.7	37	CCDS31142.1																																																																																				0.637	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		T	7829795	C	T	7829795	1	4	600	0	1	0	0	0	0	0	0	0	8317	564	20	2		2	KIN	10	7829795	5'Flank	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	7420608	7829795	127704952	77	32888											
CCNY	219771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	35819094	35819094	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr10:35819094C>G	ENST00000374704.4	+	7	682	c.502C>G	c.(502-504)Cag>Gag	p.Q168E	CCNY_ENST00000265375.9_Missense_Mutation_p.Q114E|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Missense_Mutation_p.Q114E|CCNY_ENST00000339497.5_Missense_Mutation_p.Q143E	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	168	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.Q114E(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CAACCCAGAGCAGAAGCAGAT	0.493																																																1	Substitution - Missense(1)	kidney(1)											129	94	105					10																	35819094		2203	4300	6503	SO:0001583	missense	219771			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"chromosome 10 open reading frame 9"	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.502C>G	10.37:g.35819094C>G	ENSP00000363836:p.Gln168Glu		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207929	0.95033	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	5.91	5.91	0.95273	Cyclin, N-terminal (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	N	0.04090	-0.28	0.80722	D	1	B;P;P	0.36183	0.389;0.486;0.542	B;B;B	0.42959	0.158;0.281;0.403	T	0.45789	-0.9237	10	0.33940	T	0.23	1.2917	20.2896	0.98541	0.0:1.0:0.0:0.0	.	35;143;168	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	E	114;168;168;143;114;35	ENSP00000363838:Q114E;ENSP00000363836:Q168E;ENSP00000344275:Q143E;ENSP00000265375:Q114E	ENSP00000265375:Q114E	Q	+	1	0	CCNY	35859100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	CAG		0.493	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698		G	35819094	C	G	35819094	3	3	600	1	0	0	0	0	1	0	0	0	2938	711	25	4	528	4	CCNY	10	35819094	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	27989299	35819094	99715653	78	32889											
ZMYND17	118490	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75185797	75185797	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr10:75185797C>T	ENST00000372912.1	-	4	843	c.841G>A	c.(841-843)Ggg>Agg	p.G281R	MSS51_ENST00000299432.2_Missense_Mutation_p.G281R|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	281					social behavior (GO:0035176)		metal ion binding (GO:0046872)	p.G281R(1)									TCATAGTCCCCTGGGCGAGTA	0.532																																																1	Substitution - Missense(1)	kidney(1)											82	79	80					10																	75185797		2203	4300	6503	SO:0001583	missense	0			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"Zinc fingers, MYND-type"	21000	protein-coding gene	gene with protein product		614773	"zinc finger, MYND-type containing 17", "MSS51 mitochondrial translational activator homolog (S. cerevisiae)"	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.841G>A	10.37:g.75185797C>T	ENSP00000362003:p.Gly281Arg		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106273	0.37145	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.42900	0.96;0.96	5.39	4.49	0.54785	.	0.373950	0.28790	N	0.014123	T	0.30634	0.0771	L	0.41236	1.265	0.28448	N	0.916497	B	0.11235	0.004	B	0.08055	0.003	T	0.14699	-1.0463	9	.	.	.	-0.0679	8.0951	0.30824	0.0:0.8241:0.0:0.1759	.	281	Q4VC12	ZMY17_HUMAN	R	281	ENSP00000299432:G281R;ENSP00000362003:G281R	.	G	-	1	0	ZMYND17	74855803	1.000000	0.71417	0.897000	0.35233	0.967000	0.64934	4.542000	0.60677	1.506000	0.48736	0.650000	0.86243	GGG		0.532	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		T	75185797	C	T	75185797	3	4	600	1	0	0	0	0	1	0	0	0	17714	681	24	2	553	2	ZMYND17	10	75185797	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	39366703	75185797	60348950	79	32890											
OR51T1	56547	hgsc.bcm.edu;ucsc.edu	37	11	4903098	4903098	+	Intron	DEL	C	C	-			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:4903098delC	ENST00000380390.1	+	2	72				OR51T1_ENST00000380378.1_Frame_Shift_Del_p.S17fs|OR51T1_ENST00000322049.1_5'Flank|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	AATTATTTTTCTTTCCTCATA	0.303																																																0													57	52	53					11																	4903098		2201	4298	6499	SO:0001627	intron_variant	401665			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.-144-106200C>-	11.37:g.4903098delC			Q3MJ78|Q9GZS2|Q9NR87	Frame_Shift_Del	DEL	ENST00000380390.1	37	CCDS7752.1																																																																																				0.303	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		-	4903098	C	-	4903098	6	5	600	0	1	1	0	1	0	0	0	0	11108	913	32	0		0	OR51T1	11	4903098	Intron	DEL	C	TCGA-CZ-5468-01A-01D-1501-10		4903098	130103418	80	32891											
MRGPRX3	117195	broad.mit.edu;hgsc.bcm.edu	37	11	18159570	18159570	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:18159570T>A	ENST00000396275.2	+	3	1182	c.821T>A	c.(820-822)tTc>tAc	p.F274Y		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F274Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATTTACTTCTTCGTGGGCTCC	0.507																																																1	Substitution - Missense(1)	kidney(1)											69	72	71					11																	18159570		2200	4290	6490	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.821T>A	11.37:g.18159570T>A	ENSP00000379571:p.Phe274Tyr		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.941044	0.73557	.	.	ENSG00000179826	ENST00000396275	T	0.41758	0.99	1.37	1.37	0.22104	.	0.357134	0.25607	N	0.029507	T	0.61874	0.2382	M	0.87827	2.91	0.25979	N	0.982394	D	0.76494	0.999	D	0.74023	0.982	T	0.50808	-0.8784	10	0.72032	D	0.01	.	6.8816	0.24177	0.0:0.0:0.0:1.0	.	274	Q96LB0	MRGX3_HUMAN	Y	274	ENSP00000379571:F274Y	ENSP00000379571:F274Y	F	+	2	0	MRGPRX3	18116146	0.989000	0.36119	0.980000	0.43619	0.382000	0.30200	3.603000	0.54074	0.904000	0.36572	0.338000	0.21704	TTC		0.507	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		A	18159570	T	A	18159570	3	1	600	1	0	0	0	0	1	0	0	0	9770	1783	62	5	823	5	MRGPRX3	11	18159570	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	13256472	18159570	116846946	81	32892											
NAV2	89797	hgsc.bcm.edu;ucsc.edu	37	11	20104550	20104550	+	Intron	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:20104550C>G	ENST00000396087.3	+	29	5601				NAV2_ENST00000540292.1_Intron|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000527559.2_Intron	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2						glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTTGTATATTCAGTTACGCAG	0.458																																																0													59	55	56					11																	20104550		2203	4300	6503	SO:0001627	intron_variant	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5503-3C>G	11.37:g.20104550C>G			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.458	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		G	20104550	C	G	20104550	1	3	600	0	1	0	0	0	0	0	0	0	10186	827	29	4		4	NAV2	11	20104550	Intron	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	1944980	20104550	114901966	82	32893											
VPS37C	55048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60899492	60899492	+	Silent	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:60899492T>G	ENST00000301765.5	-	5	1100	c.868A>C	c.(868-870)Agg>Cgg	p.R290R		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	290	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)		p.R290R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CTGGGGGCCCTGCCTCCCCGC	0.647																																																1	Substitution - coding silent(1)	kidney(1)											26	27	27					11																	60899492		2116	4115	6231	SO:0001819	synonymous_variant	55048			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"vacuolar protein sorting 37C (yeast)"			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.868A>C	11.37:g.60899492T>G			Q8N3K4	Silent	SNP	ENST00000301765.5	37	CCDS31573.1																																																																																				0.647	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966		G	60899492	T	G	60899492	2	3	600	1	0	0	0	0	0	0	0	1	17212	1579	55	5		5	VPS37C	11	60899492	Silent	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	40794942	60899492	74107024	83	32894											
GAB2	9846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77931466	77931466	+	Missense_Mutation	SNP	C	C	T	rs145573768		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:77931466C>T	ENST00000361507.4	-	9	1871	c.1786G>A	c.(1786-1788)Gtt>Att	p.V596I	GAB2_ENST00000340149.2_Missense_Mutation_p.V558I	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	596					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.V596I(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCACTGGGAACGGGAGATGCA	0.562																																																1	Substitution - Missense(1)	kidney(1)						C	ILE/VAL,ILE/VAL	2,4398	6.2+/-15.9	0,2,2198	82	78	79		1672,1786	1.4	0.7	11	dbSNP_134	79	0,8584		0,0,4292	no	missense,missense	GAB2	NM_012296.3,NM_080491.2	29,29	0,2,6490	TT,TC,CC		0.0,0.0455,0.0154	benign,benign	558/639,596/677	77931466	2,12982	2200	4292	6492	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1786G>A	11.37:g.77931466C>T	ENSP00000354952:p.Val596Ile		A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863725	0.32884	4.55E-4	0.0	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.23754	1.89;1.89	5.61	1.42	0.22433	.	0.236850	0.34700	N	0.003748	T	0.20129	0.0484	L	0.50333	1.59	0.22511	N	0.999031	B	0.02656	0.0	B	0.04013	0.001	T	0.19778	-1.0295	10	0.29301	T	0.29	-1.7283	8.3525	0.32310	0.0:0.5517:0.0:0.4483	.	596	Q9UQC2	GAB2_HUMAN	I	558;596	ENSP00000343959:V558I;ENSP00000354952:V596I	ENSP00000343959:V558I	V	-	1	0	GAB2	77609114	0.920000	0.31207	0.685000	0.30070	0.961000	0.63080	1.853000	0.39358	0.053000	0.16036	-0.136000	0.14681	GTT		0.562	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		T	77931466	C	T	77931466	3	4	600	1	0	0	0	0	1	0	0	0	6151	536	19	1	252	1	GAB2	11	77931466	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	17031974	77931466	57075050	84	32895											
RNF26	79102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119205888	119205888	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:119205888C>A	ENST00000311413.4	+	1	652	c.56C>A	c.(55-57)aCc>aAc	p.T19N	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	19						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.T19N(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GACGTGCTGACCTTGGTGTTG	0.577																																																1	Substitution - Missense(1)	kidney(1)											266	217	233					11																	119205888		2199	4295	6494	SO:0001583	missense	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.56C>A	11.37:g.119205888C>A	ENSP00000312439:p.Thr19Asn		Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	37	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562791	0.45694	.	.	ENSG00000173456	ENST00000311413	T	0.33216	1.42	5.25	3.15	0.36227	.	0.337955	0.28946	N	0.013633	T	0.13841	0.0335	N	0.14661	0.345	0.31585	N	0.654621	B	0.10296	0.003	B	0.08055	0.003	T	0.04495	-1.0947	10	0.40728	T	0.16	-19.834	2.1208	0.03725	0.1728:0.4138:0.2847:0.1287	.	19	Q9BY78	RNF26_HUMAN	N	19	ENSP00000312439:T19N	ENSP00000312439:T19N	T	+	2	0	RNF26	118711098	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	1.678000	0.37586	2.462000	0.83206	0.655000	0.94253	ACC		0.577	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		A	119205888	C	A	119205888	3	1	600	1	0	0	0	0	1	0	0	0	13492	507	18	4	58	4	RNF26	11	119205888	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	41274422	119205888	15800628	85	32896											
IGSF9B	22997	broad.mit.edu	37	11	133789678	133789678	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:133789678C>T	ENST00000321016.8	-	18	4172	c.3942G>A	c.(3940-3942)ttG>ttA	p.L1314L	IGSF9B_ENST00000533871.2_Silent_p.L1314L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1314	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.L770L(1)|p.L1314L(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGGTCGGAGCAATTCCTCCC	0.682																																																2	Substitution - coding silent(2)	kidney(2)											16	20	19					11																	133789678		2002	4155	6157	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3942G>A	11.37:g.133789678C>T			G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																					0.682	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		T	133789678	C	T	133789678	2	4	600	1	0	0	0	0	0	0	0	1	7608	709	25	2		2	IGSF9B	11	133789678	Silent	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	14583790	133789678	1216838	86	32897											
SFRS2IP	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46321850	46321850	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:46321850T>C	ENST00000369367.3	-	11	1867	c.1634A>G	c.(1633-1635)cAt>cGt	p.H545R	SCAF11_ENST00000465950.1_Missense_Mutation_p.H230R|SCAF11_ENST00000549162.1_Missense_Mutation_p.H353R|SCAF11_ENST00000419565.2_Missense_Mutation_p.H545R	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	545					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H545R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ATTTGGAAGATGAACTGTACA	0.373																																																1	Substitution - Missense(1)	kidney(1)											110	102	105					12																	46321850		2203	4300	6503	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1634A>G	12.37:g.46321850T>C	ENSP00000358374:p.His545Arg		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	0.332	-0.955392	0.02267	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.41400	1.59;2.33;1.59;2.33;1.0	5.54	-0.746	0.11095	.	1.294390	0.04942	N	0.458761	T	0.32133	0.0819	L	0.46157	1.445	0.09310	N	1	B;B	0.29805	0.257;0.097	B;B	0.26864	0.074;0.023	T	0.18241	-1.0343	10	0.25751	T	0.34	0.9825	4.8516	0.13540	0.0:0.2733:0.2887:0.438	.	353;545	F8VXG7;Q99590	.;SCAFB_HUMAN	R	230;545;353;545;485	ENSP00000449812:H230R;ENSP00000358374:H545R;ENSP00000448864:H353R;ENSP00000413036:H545R;ENSP00000446746:H485R	ENSP00000358374:H545R	H	-	2	0	SCAF11	44608117	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.001000	0.12947	0.073000	0.16731	-0.316000	0.08728	CAT		0.373	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		C	46321850	T	C	46321850	3	2	600	1	0	0	0	0	1	0	0	0	14183	1464	51	3	2777	3	SFRS2IP	12	46321850	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10		46321850	87530045	87	32898											
KRT2	3849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53043743	53043743	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:53043743G>A	ENST00000309680.3	-	3	837	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	272	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.I272I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGCGCTTATTGATTTCATCCT	0.438																																																1	Substitution - coding silent(1)	kidney(1)											162	144	150					12																	53043743		2203	4300	6503	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.816C>T	12.37:g.53043743G>A			Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																				0.438	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		A	53043743	G	A	53043743	2	1	600	1	0	0	0	0	0	0	0	1	8459	1280	45	2		2	KRT2	12	53043743	Silent	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	6721893	53043743	80808152	88	32899											
NXPH4	11247	broad.mit.edu	37	12	57618903	57618903	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:57618903G>A	ENST00000349394.5	+	2	475	c.300G>A	c.(298-300)gcG>gcA	p.A100A	Y_RNA_ENST00000365197.1_RNA|NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	100	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.A100A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TCAAGGCGGCGCGCGCCAAAA	0.667																																																1	Substitution - coding silent(1)	kidney(1)											20	18	19					12																	57618903		2190	4292	6482	SO:0001819	synonymous_variant	11247			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.300G>A	12.37:g.57618903G>A			A8K4I4|Q7Z6L3|Q8N462	Silent	SNP	ENST00000349394.5	37	CCDS8933.1																																																																																				0.667	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		A	57618903	G	A	57618903	2	1	600	1	0	0	0	0	0	0	0	1	10795	1074	38	1		1	NXPH4	12	57618903	Silent	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	4575160	57618903	76232992	89	32900											
MARS	4141	broad.mit.edu;hgsc.bcm.edu	37	12	57881962	57881962	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:57881962T>A	ENST00000262027.5	+	1	223	c.89T>A	c.(88-90)aTc>aAc	p.I30N	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000550288.1_Intron|ARHGAP9_ENST00000393797.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	30					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.I30N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GAGGTGCTCATCAGCACTGTA	0.647																																																1	Substitution - Missense(1)	kidney(1)											69	74	72					12																	57881962		2203	4300	6503	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.89T>A	12.37:g.57881962T>A	ENSP00000262027:p.Ile30Asn		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412723	0.83340	.	.	ENSG00000166986	ENST00000262027	T	0.76448	-1.02	4.43	4.43	0.53597	.	0.498045	0.22458	N	0.059789	T	0.69024	0.3065	L	0.29908	0.895	0.80722	D	1	P;B	0.35844	0.524;0.21	B;B	0.38194	0.267;0.125	T	0.72798	-0.4184	10	0.66056	D	0.02	-11.3114	12.2632	0.54663	0.0:0.0:0.0:1.0	.	30;30	B4E0E9;P56192	.;SYMC_HUMAN	N	30	ENSP00000262027:I30N	ENSP00000262027:I30N	I	+	2	0	MARS	56168229	0.999000	0.42202	1.000000	0.80357	0.882000	0.50991	3.928000	0.56506	1.960000	0.56953	0.397000	0.26171	ATC		0.647	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		A	57881962	T	A	57881962	3	1	600	1	0	0	0	0	1	0	0	0	9318	1435	50	5	91	5	MARS	12	57881962	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	263059	57881962	75969933	90	32901											
CLIP1	6249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122831951	122831951	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:122831951T>C	ENST00000540338.1	-	9	1518	c.1477A>G	c.(1477-1479)Aaa>Gaa	p.K493E	CLIP1_ENST00000302528.7_Missense_Mutation_p.K482E|CLIP1_ENST00000358808.2_Missense_Mutation_p.K482E|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000545889.1_Missense_Mutation_p.K183E|CLIP1_ENST00000537178.1_Intron			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	493					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.K482E(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTCTGGAGTTTGTCAGCTTTG	0.458																																																1	Substitution - Missense(1)	kidney(1)											167	148	155					12																	122831951		2203	4300	6503	SO:0001583	missense	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1477A>G	12.37:g.122831951T>C	ENSP00000439093:p.Lys493Glu		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874860	0.91664	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000540338;ENST00000540304	T;T;T;T;T	0.62941	2.54;0.41;0.41;0.59;-0.01	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.70718	-0.4795	10	0.17369	T	0.5	-22.9034	15.7435	0.77920	0.0:0.0:0.0:1.0	.	482;493	P30622-1;P30622	.;CLIP1_HUMAN	E	183;482;482;327;493;416	ENSP00000438743:K183E;ENSP00000303585:K482E;ENSP00000351665:K482E;ENSP00000439093:K493E;ENSP00000437786:K416E	ENSP00000303585:K482E	K	-	1	0	CLIP1	121397904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.181000	0.69327	0.528000	0.53228	AAA		0.458	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		C	122831951	T	C	122831951	3	2	600	1	0	0	0	0	1	0	0	0	3534	1821	63	3	2907	3	CLIP1	12	122831951	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	64949989	122831951	11019944	91	32902											
MED4	29079	broad.mit.edu	37	13	48669155	48669155	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr13:48669155C>T	ENST00000258648.2	-	1	85	c.60G>A	c.(58-60)gtG>gtA	p.V20V	MED4_ENST00000378586.1_Intron	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	20					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.V20V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TACCACCCGCCACTCCCAAAC	0.652											OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(38;399 1016 9170 13426 20145)											1	Substitution - coding silent(1)	kidney(1)											44	36	39					13																	48669155		2203	4300	6503	SO:0001819	synonymous_variant	29079			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"vitamin D receptor interacting protein", "mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.60G>A	13.37:g.48669155C>T		956	B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Silent	SNP	ENST00000258648.2	37	CCDS9408.1																																																																																				0.652	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		T	48669155	C	T	48669155	2	4	600	1	0	0	0	0	0	0	0	1	9452	581	21	2		2	MED4	13	48669155	Silent	SNP	C	TCGA-CZ-5468-01A-01D-1501-10		48669155	66500723	92	32903											
OLFM4	10562	hgsc.bcm.edu;ucsc.edu	37	13	53624868	53624868	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr13:53624868C>T	ENST00000219022.2	+	5	1573	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	499	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGGTTACCTTCTGAATTATGA	0.363																																																0													78	80	79					13																	53624868		2203	4299	6502	SO:0001819	synonymous_variant	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1495C>T	13.37:g.53624868C>T			O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	CCDS9440.1																																																																																				0.363	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		T	53624868	C	T	53624868	2	4	600	1	0	0	0	0	0	0	0	1	10857	912	32	2		2	OLFM4	13	53624868	Silent	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	4955713	53624868	61545010	93	32904											
CTAGE5	4253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	39763224	39763224	+	Silent	SNP	G	G	A	rs141828907		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr14:39763224G>A	ENST00000280083.3	+	7	830	c.516G>A	c.(514-516)agG>agA	p.R172R	CTAGE5_ENST00000396165.4_Silent_p.R143R|CTAGE5_ENST00000348007.3_Silent_p.R172R|RP11-407N17.3_ENST00000553728.1_Silent_p.R707R|CTAGE5_ENST00000556148.1_Silent_p.R97R|CTAGE5_ENST00000341502.5_Silent_p.R172R|CTAGE5_ENST00000396158.2_Silent_p.R177R|RP11-407N17.3_ENST00000603904.1_Silent_p.R143R|CTAGE5_ENST00000557038.1_Silent_p.R92R|CTAGE5_ENST00000553352.1_Silent_p.R143R|CTAGE5_ENST00000341749.3_Silent_p.R160R			O15320	CTGE5_HUMAN	CTAGE family, member 5	172					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.R172R(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTTCAAAAAGGATACAGTCTC	0.323																																																1	Substitution - coding silent(1)	kidney(1)											116	125	122					14																	39763224		2203	4298	6501	SO:0001819	synonymous_variant	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.516G>A	14.37:g.39763224G>A			B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	CCDS9674.1																																																																																				0.323	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		A	39763224	G	A	39763224	2	1	600	1	0	0	0	0	0	0	0	1	3996	1165	41	2		2	CTAGE5	14	39763224	Silent	SNP	G	TCGA-CZ-5468-01A-01D-1501-10		39763224	67586316	94	32905											
SGPP1	81537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64152863	64152863	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr14:64152863A>C	ENST00000247225.6	-	3	1380	c.1286T>G	c.(1285-1287)tTt>tGt	p.F429C		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	429					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.F429C(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGGAACAAAAAATGTGATGGA	0.333																																																1	Substitution - Missense(1)	kidney(1)											77	63	68					14																	64152863		2203	4299	6502	SO:0001583	missense	81537			AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1286T>G	14.37:g.64152863A>C	ENSP00000247225:p.Phe429Cys		B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	A	6.296	0.422728	0.11928	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	2.27	0.28462	.	0.173106	0.52532	N	0.000079	T	0.43277	0.1240	L	0.38838	1.175	0.40502	D	0.980658	B	0.23990	0.095	B	0.19391	0.025	T	0.19943	-1.0290	9	0.34782	T	0.22	-27.2959	9.3131	0.37917	0.6116:0.327:0.0614:0.0	.	429	Q9BX95	SGPP1_HUMAN	C	429	.	ENSP00000247225:F429C	F	-	2	0	SGPP1	63222616	0.682000	0.27624	0.959000	0.39883	0.982000	0.71751	1.606000	0.36826	0.135000	0.18707	0.533000	0.62120	TTT		0.333	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		C	64152863	A	C	64152863	3	2	600	1	0	0	0	0	1	0	0	0	14225	14	1	5	43	5	SGPP1	14	64152863	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	24389639	64152863	43196677	95	32906											
CASC5	57082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40949238	40949238	+	Splice_Site	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:40949238A>T	ENST00000346991.5	+	24	6952		c.e24-1		CASC5_ENST00000399668.2_Splice_Site			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5						acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.?(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ttccttccccagaggatcaag	0.328																																																1	Unknown(1)	kidney(1)											21	19	20					15																	40949238		1803	4068	5871	SO:0001630	splice_region_variant	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6563-1A>T	15.37:g.40949238A>T			Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Splice_Site	SNP	ENST00000346991.5	37	CCDS42023.1																																																																																				0.328	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	Intron	T	40949238	A	T	40949238	5	4	600	1	0	0	0	0	0	0	1	0	2665	202	7	5	6651	5	CASC5	15	40949238	Splice_Site	SNP	A	TCGA-CZ-5468-01A-01D-1501-10		40949238	61582154	96	32907											
EIF3J	8669	broad.mit.edu	37	15	44829409	44829410	+	In_Frame_Ins	INS	-	-	ACT	rs539807309		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:44829409_44829410insACT	ENST00000535391.1	+	1	29_30	c.17_18insACT	c.(16-21)gcggcg>gcACTggcg	p.6_7AA>ALA	EIF3J_ENST00000424492.3_In_Frame_Ins_p.6_7AA>ALA|EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000261868.5_In_Frame_Ins_p.6_7AA>ALA					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		gcggcggcggcggcggcggGGG	0.708																																																0										9,3779		2,5,1887						2.2	1			8	11,7731		3,5,3863	no	coding	EIF3J	NM_003758.2		5,10,5750	A1A1,A1R,RR		0.1421,0.2376,0.1735				20,11510				SO:0001652	inframe_insertion	8669			U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	Exception_encountered	15.37:g.44829409_44829410insACT	ENSP00000440221:p.Ala6_Ala7insLeu			In_Frame_Ins	INS	ENST00000535391.1	37																																																																																					0.708	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1	NM_003758		ACT	44829410	-	ACT	44829409	7	5	600	1	0	1	1	0	0	0	0	0	5022	768	27	0	19	0	EIF3J	15	44829409	In_Frame_Ins	INS	-	TCGA-CZ-5468-01A-01D-1501-10	3880171	44829409	57701983	97	32908											
PYGO1	26108	broad.mit.edu;ucsc.edu	37	15	55841181	55841181	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:55841181C>T	ENST00000302000.6	-	2	156	c.62G>A	c.(61-63)gGa>gAa	p.G21E	PYGO1_ENST00000563719.1_Missense_Mutation_p.G21E	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	21					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G21E(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CCCATCCAGTCCACTATCACC	0.338																																																1	Substitution - Missense(1)	kidney(1)											114	109	111					15																	55841181		2193	4292	6485	SO:0001583	missense	26108			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.62G>A	15.37:g.55841181C>T	ENSP00000302327:p.Gly21Glu		A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056002	0.55325	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.57273	0.41	5.16	4.22	0.49857	.	0.151478	0.43416	D	0.000572	T	0.52240	0.1722	L	0.27053	0.805	0.52099	D	0.999943	D;D	0.58268	0.982;0.982	P;P	0.55112	0.769;0.769	T	0.56007	-0.8050	10	0.62326	D	0.03	-9.5131	12.6259	0.56630	0.1657:0.8343:0.0:0.0	.	21;21	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	E	21	ENSP00000302327:G21E	ENSP00000302327:G21E	G	-	2	0	PYGO1	53628473	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.582000	0.67477	1.255000	0.44051	0.655000	0.94253	GGA		0.338	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		T	55841181	C	T	55841181	3	4	600	1	0	0	0	0	1	0	0	0	12869	855	30	2	1205	2	PYGO1	15	55841181	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	11011772	55841181	46690211	98	32909											
TLN2	83660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63092888	63092888	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:63092888G>A	ENST00000561311.1	+	49	6627	c.6397G>A	c.(6397-6399)Gta>Ata	p.V2133I	TLN2_ENST00000306829.6_Missense_Mutation_p.V2133I			Q9Y4G6	TLN2_HUMAN	talin 2	2133					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V2133I(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTCAAGACTGTAAAGGCAGT	0.537																																																1	Substitution - Missense(1)	kidney(1)											56	45	49					15																	63092888		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6397G>A	15.37:g.63092888G>A	ENSP00000453508:p.Val2133Ile		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723585	0.89298	.	.	ENSG00000171914	ENST00000306829	T	0.13420	2.59	5.6	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	M	0.81497	2.545	0.58432	D	0.999999	D	0.53885	0.963	D	0.77004	0.989	T	0.33675	-0.9859	10	0.46703	T	0.11	-13.2327	15.9635	0.79948	0.0:0.0:0.8642:0.1358	.	2133	Q9Y4G6	TLN2_HUMAN	I	2133	ENSP00000303476:V2133I	ENSP00000303476:V2133I	V	+	1	0	TLN2	60879941	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.813000	0.99286	1.353000	0.45828	0.655000	0.94253	GTA		0.537	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			A	63092888	G	A	63092888	3	1	600	1	0	0	0	0	1	0	0	0	15953	1377	48	2	6583	2	TLN2	15	63092888	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	7251707	63092888	39438504	99	32910											
ZNF609	23060	hgsc.bcm.edu	37	15	64968215	64968215	+	Silent	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:64968215C>A	ENST00000326648.3	+	4	3290	c.3162C>A	c.(3160-3162)ccC>ccA	p.P1054P		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1054						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAAGGCCCCCAGCCTGACAG	0.552																																																0													72	73	73					15																	64968215		2203	4299	6502	SO:0001819	synonymous_variant	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3162C>A	15.37:g.64968215C>A			Q0D2I2	Silent	SNP	ENST00000326648.3	37	CCDS32270.1																																																																																				0.552	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		A	64968215	C	A	64968215	2	1	600	1	0	0	0	0	0	0	0	1	18040	581	21	4		4	ZNF609	15	64968215	Silent	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	1875327	64968215	37563177	100	32911											
MAN2C1	4123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75648339	75648339	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:75648339G>T	ENST00000267978.5	-	26	3077	c.3031C>A	c.(3031-3033)Cac>Aac	p.H1011N	RP11-817O13.6_ENST00000563660.1_lincRNA|MIR631_ENST00000384904.1_RNA|MAN2C1_ENST00000569482.1_Missense_Mutation_p.H988N|MAN2C1_ENST00000565683.1_Missense_Mutation_p.H1028N|MAN2C1_ENST00000563622.1_Missense_Mutation_p.H912N	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	1011					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.H1011N(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGGTCAAGTGGCCAGCAGGG	0.627																																																1	Substitution - Missense(1)	kidney(1)											79	73	75					15																	75648339		2197	4294	6491	SO:0001583	missense	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.3031C>A	15.37:g.75648339G>T	ENSP00000267978:p.His1011Asn		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614081	0.28712	.	.	ENSG00000140400	ENST00000267978	T	0.77620	-1.11	4.56	3.64	0.41730	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.320719	0.29314	N	0.012505	T	0.62551	0.2437	L	0.28556	0.865	0.29640	N	0.844769	B;B	0.30937	0.301;0.301	B;B	0.26693	0.072;0.072	T	0.54549	-0.8277	10	0.17832	T	0.49	-6.9747	11.149	0.48447	0.0915:0.0:0.9085:0.0	.	988;1011	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	N	1011	ENSP00000267978:H1011N	ENSP00000267978:H1011N	H	-	1	0	MAN2C1	73435392	0.691000	0.27709	0.871000	0.34182	0.194000	0.23727	1.347000	0.33975	0.919000	0.36945	0.462000	0.41574	CAC		0.627	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			T	75648339	G	T	75648339	3	4	600	1	0	0	0	0	1	0	0	0	9220	1348	47	4	95	4	MAN2C1	15	75648339	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	10680124	75648339	26883053	101	32912											
RHBDF1	64285	broad.mit.edu;ucsc.edu	37	16	109255	109255	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:109255C>T	ENST00000262316.6	-	16	2128	c.1986G>A	c.(1984-1986)ctG>ctA	p.L662L		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	662					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.L662L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCCCGGCGTGCAGGAAGAGGG	0.627																																																1	Substitution - coding silent(1)	kidney(1)											47	49	48					16																	109255		2203	4300	6503	SO:0001819	synonymous_variant	64285			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1986G>A	16.37:g.109255C>T			Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	CCDS32344.1																																																																																				0.627	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		T	109255	C	T	109255	2	4	600	1	0	0	0	0	0	0	0	1	13325	697	25	2		2	RHBDF1	16	109255	Silent	SNP	C	TCGA-CZ-5468-01A-01D-1501-10		109255	90245498	102	32913											
CLCN7	1186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1515299	1515299	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:1515299C>T	ENST00000382745.4	-	2	787	c.182G>A	c.(181-183)aGc>aAc	p.S61N	CLCN7_ENST00000262318.8_Intron|CLCN7_ENST00000566812.1_5'Flank|CLCN7_ENST00000448525.1_Intron|LA16c-390E6.3_ENST00000563223.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	61					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.S61N(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CAGCTCCACGCTGCTCATATG	0.572																																																1	Substitution - Missense(1)	kidney(1)											114	79	91					16																	1515299		2199	4300	6499	SO:0001583	missense	1186			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.182G>A	16.37:g.1515299C>T	ENSP00000372193:p.Ser61Asn		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	0.470	-0.885069	0.02511	.	.	ENSG00000103249	ENST00000262318;ENST00000382745;ENST00000428756	D	0.89939	-2.59	4.77	-1.8	0.07907	.	0.322238	0.34959	N	0.003553	T	0.64768	0.2628	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56805	-0.7918	10	0.02654	T	1	-14.1169	5.3315	0.15936	0.0:0.3428:0.288:0.3691	.	61	P51798	CLCN7_HUMAN	N	14;61;3	ENSP00000372193:S61N	ENSP00000262318:S14N	S	-	2	0	CLCN7	1455300	0.010000	0.17322	0.614000	0.29051	0.586000	0.36452	-0.496000	0.06436	-0.743000	0.04784	-0.430000	0.05897	AGC		0.572	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		T	1515299	C	T	1515299	3	4	600	1	0	0	0	0	1	0	0	0	3470	797	28	2	2331	2	CLCN7	16	1515299	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	1406044	1515299	88839454	103	32914											
RAB26	25837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2200042	2200042	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:2200042T>A	ENST00000210187.6	+	2	456	c.296T>A	c.(295-297)aTt>aAt	p.I99N	RAB26_ENST00000541451.1_Missense_Mutation_p.I33N	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	99					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)	p.I33N(1)		kidney(1)|large_intestine(1)|lung(3)	5						ACCGTAGGCATTGACTTCCGG	0.617																																																1	Substitution - Missense(1)	kidney(1)											145	124	131					16																	2200042		2010	3899	5909	SO:0001583	missense	25837			AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"RAB, member RAS oncogene"	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.296T>A	16.37:g.2200042T>A	ENSP00000210187:p.Ile99Asn		B2RAA6|Q3L6K5|Q6NXS7	Missense_Mutation	SNP	ENST00000210187.6	37	CCDS10460.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077198	0.76415	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	T;T	0.81330	-1.48;-1.48	4.18	4.18	0.49190	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000010	D	0.86851	0.6032	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87870	0.2670	10	0.87932	D	0	.	11.4921	0.50387	0.0:0.0:0.0:1.0	.	99	Q9ULW5	RAB26_HUMAN	N	33;99	ENSP00000441580:I33N;ENSP00000210187:I99N	ENSP00000210187:I99N	I	+	2	0	RAB26	2140043	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.413000	0.80104	1.898000	0.54952	0.454000	0.30748	ATT		0.617	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250767.2			A	2200042	T	A	2200042	3	1	600	1	0	0	0	0	1	0	0	0	12919	1493	52	5	302	5	RAB26	16	2200042	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	684743	2200042	88154711	104	32915											
UBN1	29855	broad.mit.edu;ucsc.edu	37	16	4925034	4925034	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:4925034A>G	ENST00000396658.4	+	14	3326	c.2623A>G	c.(2623-2625)Acc>Gcc	p.T875A	UBN1_ENST00000262376.6_Missense_Mutation_p.T875A|UBN1_ENST00000545171.1_Missense_Mutation_p.T875A|UBN1_ENST00000590769.1_Missense_Mutation_p.T875A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	875	Ser-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T875A(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CTCTCACAAGACCCCAGCCTC	0.572																																																1	Substitution - Missense(1)	kidney(1)											59	59	59					16																	4925034		2197	4300	6497	SO:0001583	missense	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2623A>G	16.37:g.4925034A>G	ENSP00000379894:p.Thr875Ala		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602916	0.46423	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.42900	1.54;0.96;1.54	5.2	2.94	0.34122	.	0.634676	0.15921	N	0.238124	T	0.22898	0.0553	L	0.27053	0.805	0.27082	N	0.963057	B;P	0.39665	0.073;0.682	B;B	0.28385	0.022;0.089	T	0.08452	-1.0721	10	0.46703	T	0.11	-0.0334	6.7351	0.23405	0.7693:0.1533:0.0774:0.0	.	875;875	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	A	875	ENSP00000262376:T875A;ENSP00000442379:T875A;ENSP00000379894:T875A	ENSP00000262376:T875A	T	+	1	0	UBN1	4865035	0.325000	0.24660	0.991000	0.47740	0.978000	0.69477	0.836000	0.27545	0.434000	0.26340	0.460000	0.39030	ACC		0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		G	4925034	A	G	4925034	3	3	600	1	0	0	0	0	1	0	0	0	16897	275	10	3	2677	3	UBN1	16	4925034	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	2724992	4925034	85429719	105	32916											
MYH11	4629	broad.mit.edu;ucsc.edu	37	16	15826565	15826565	+	Splice_Site	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:15826565C>G	ENST00000300036.5	-	27	3616	c.3507G>C	c.(3505-3507)agG>agC	p.R1169S	MYH11_ENST00000576790.2_Splice_Site_p.R1169S|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Splice_Site_p.R1176S|MYH11_ENST00000396324.3_Splice_Site_p.R1176S	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1169					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.R1169S(1)|p.R1176S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCCTCTTGGCCCTTGGTGGGA	0.582			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	2	Substitution - Missense(2)	kidney(2)											119	85	96					16																	15826565		2197	4300	6497	SO:0001630	splice_region_variant	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3507-1G>C	16.37:g.15826565C>G			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262521	0.39995	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.94	-3.09	0.05331	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D	0.76494	0.985;0.997;0.999;0.997;0.997	D;D;D;D;D	0.78314	0.953;0.985;0.991;0.985;0.974	T	0.82508	-0.0422	10	0.56958	D	0.05	.	7.2461	0.26124	0.0:0.3659:0.1195:0.5146	.	1176;1169;1176;1169;1176	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	S	1169;1169;1176;1176;1176	ENSP00000300036:R1169S;ENSP00000345136:R1169S;ENSP00000379616:R1176S;ENSP00000407821:R1176S	ENSP00000300036:R1169S	R	-	3	2	MYH11	15734066	0.560000	0.26570	0.609000	0.28983	0.051000	0.14879	-0.172000	0.09868	-0.338000	0.08413	-0.369000	0.07265	AGG		0.582	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	Missense_Mutation	G	15826565	C	G	15826565	5	3	600	1	0	0	0	0	0	0	1	0	10033	637	22	4	2506	4	MYH11	16	15826565	Splice_Site	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	10901531	15826565	74528188	106	32917											
XYLT1	64131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	17202837	17202837	+	Silent	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:17202837A>G	ENST00000261381.6	-	12	2679	c.2595T>C	c.(2593-2595)aaT>aaC	p.N865N		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	865					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.N865N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCATGTAGGCATTGCGGAGGG	0.572																																																1	Substitution - coding silent(1)	kidney(1)											88	90	89					16																	17202837		2197	4300	6497	SO:0001819	synonymous_variant	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2595T>C	16.37:g.17202837A>G			Q9H1B6	Silent	SNP	ENST00000261381.6	37	CCDS10569.1																																																																																				0.572	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		G	17202837	A	G	17202837	2	3	600	1	0	0	0	0	0	0	0	1	17468	214	8	3		3	XYLT1	16	17202837	Silent	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	1376272	17202837	73151916	107	32918											
TMC5	79838	broad.mit.edu;hgsc.bcm.edu	37	16	19460864	19460864	+	Splice_Site	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:19460864T>G	ENST00000396229.2	+	5	1708	c.959T>G	c.(958-960)gTg>gGg	p.V320G	TMC5_ENST00000542583.2_Splice_Site_p.V320G|TMC5_ENST00000541464.1_Splice_Site_p.V320G|TMC5_ENST00000381414.4_Splice_Site_p.V320G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	320					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V320G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCCCTCCAGTGAACCCTGCT	0.458																																																1	Substitution - Missense(1)	kidney(1)											207	204	205					16																	19460864		2005	4187	6192	SO:0001630	splice_region_variant	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.959-1T>G	16.37:g.19460864T>G			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.387530	0.25031	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.71	2.22	0.28083	.	2.503430	0.01719	N	0.028190	T	0.35998	0.0951	L	0.29908	0.895	0.47374	D	0.999402	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.34650	-0.9820	9	.	.	.	.	4.883	0.13688	0.1882:0.0:0.1958:0.616	.	320;320;320	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	G	320	ENSP00000441227:V320G;ENSP00000370822:V320G;ENSP00000379531:V320G;ENSP00000446274:V320G	.	V	+	2	0	TMC5	19368365	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	1.210000	0.32370	0.891000	0.36235	0.496000	0.49642	GTG		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	Missense_Mutation	G	19460864	T	G	19460864	5	3	600	1	0	0	0	0	0	0	1	0	15993	1710	59	5	969	5	TMC5	16	19460864	Splice_Site	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	2258027	19460864	70893889	108	32919											
KIAA0174	9798	broad.mit.edu;hgsc.bcm.edu	37	16	71951006	71951006	+	Missense_Mutation	SNP	G	G	A	rs546798417		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:71951006G>A	ENST00000378799.6	+	4	682	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	IST1_ENST00000538850.1_Intron|IST1_ENST00000329908.8_Missense_Mutation_p.R109Q|IST1_ENST00000606369.1_Intron|IST1_ENST00000378798.5_Missense_Mutation_p.R109Q|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000544564.1_Missense_Mutation_p.R109Q|IST1_ENST00000541571.2_Missense_Mutation_p.R109Q|IST1_ENST00000538565.1_Intron|IST1_ENST00000535424.1_Missense_Mutation_p.R122Q			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	109	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.R109Q(1)									GCTGCTCCTCGACTCCAGTCA	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		19443	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)											80	79	80					16																	71951006		2198	4299	6497	SO:0001583	missense	0			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.326G>A	16.37:g.71951006G>A	ENSP00000368076:p.Arg109Gln		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	CCDS59272.1	.	.	.	.	.	.	.	.	.	.	G	37	6.029960	0.97216	.	.	ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000424485;ENST00000329908;ENST00000378798;ENST00000456820	.	.	.	5.92	5.92	0.95590	Domain of unknown function DUF292, eukaryotic (1);	0.000000	0.85682	D	0.000000	D	0.86703	0.5996	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.994;0.993;0.999	D	0.88464	0.3057	9	0.87932	D	0	-3.3007	20.3343	0.98733	0.0:0.0:1.0:0.0	.	109;109;109;122	P53990;P53990-2;P53990-3;A8KAH5	IST1_HUMAN;.;.;.	Q	122;109;109;109;109;47	.	ENSP00000330408:R109Q	R	+	2	0	KIAA0174	70508507	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.823000	0.99369	2.822000	0.97130	0.650000	0.86243	CGA		0.363	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		A	71951006	G	A	71951006	3	1	600	1	0	0	0	0	1	0	0	0	8160	1058	37	1	336	1	KIAA0174	16	71951006	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	52490142	71951006	18403747	109	32920											
CNTNAP4	85445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	76501348	76501348	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:76501348T>A	ENST00000476707.1	+	9	1731	c.1592T>A	c.(1591-1593)cTg>cAg	p.L531Q	SNORD33_ENST00000516213.1_RNA|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L455Q|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L527Q|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L479Q			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	528	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.L527Q(1)|p.L503Q(1)|p.L455Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTGGTAGATCTGATTTCAGTT	0.458																																																3	Substitution - Missense(3)	kidney(3)											122	113	116					16																	76501348		2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1592T>A	16.37:g.76501348T>A	ENSP00000417628:p.Leu531Gln		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	T	16.94	3.260689	0.59431	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.32836	N	0.005591	D	0.87557	0.6207	.	.	.	0.41991	D	0.990849	D;P;D;D	0.76494	0.999;0.618;0.999;0.987	D;B;D;P	0.70227	0.968;0.309;0.954;0.851	D	0.89266	0.3601	9	0.72032	D	0.01	.	15.2786	0.73764	0.0:0.0:0.0:1.0	.	455;531;503;528	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	Q	527;479;455;531	ENSP00000306893:L527Q;ENSP00000439733:L479Q;ENSP00000418741:L455Q;ENSP00000417628:L531Q	ENSP00000306893:L527Q	L	+	2	0	CNTNAP4	75058849	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	7.376000	0.79658	2.274000	0.75844	0.528000	0.53228	CTG		0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		A	76501348	T	A	76501348	3	1	600	1	0	0	0	0	1	0	0	0	3651	1580	55	5	1634	5	CNTNAP4	16	76501348	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	4550342	76501348	13853405	110	32921											
CDK12	51755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37646824	37646824	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:37646824T>G	ENST00000447079.4	+	3	1979	c.1946T>G	c.(1945-1947)cTt>cGt	p.L649R	CDK12_ENST00000430627.2_Missense_Mutation_p.L649R	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	649					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.L649R(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAGAAACTCTTCCTTCAAAA	0.398			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Missense(1)	kidney(1)											48	43	45					17																	37646824		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1946T>G	17.37:g.37646824T>G	ENSP00000398880:p.Leu649Arg		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717764	0.48622	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.70282	-0.47;-0.46	5.15	5.15	0.70609	.	0.000000	0.38436	N	0.001688	T	0.68696	0.3029	L	0.47716	1.5	0.42796	D	0.993911	P;P;P	0.52061	0.917;0.917;0.95	P;P;P	0.53809	0.548;0.548;0.735	T	0.65125	-0.6244	10	0.10902	T	0.67	-7.6201	9.2367	0.37470	0.0:0.0822:0.0:0.9178	.	648;649;649	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	R	649	ENSP00000407720:L649R;ENSP00000398880:L649R	ENSP00000407720:L649R	L	+	2	0	CDK12	34900350	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.776000	0.38594	1.956000	0.56807	0.533000	0.62120	CTT		0.398	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		G	37646824	T	G	37646824	3	3	600	1	0	0	0	0	1	0	0	0	3130	1609	56	5	1956	5	CDK12	17	37646824	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10		37646824	43548386	111	32922											
CD300LG	146894	broad.mit.edu;ucsc.edu	37	17	41931340	41931340	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:41931340C>G	ENST00000317310.4	+	4	688	c.647C>G	c.(646-648)cCc>cGc	p.P216R	CD300LG_ENST00000293396.8_Missense_Mutation_p.P131R|CD300LG_ENST00000377203.4_Missense_Mutation_p.P182R|CD300LG_ENST00000539718.1_Missense_Mutation_p.P216R|CD300LG_ENST00000586233.1_Missense_Mutation_p.P131R	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	216					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P216R(1)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCTCCCGCCCCCCCATGCAG	0.622																																																1	Substitution - Missense(1)	kidney(1)											61	52	55					17																	41931340		2203	4300	6503	SO:0001583	missense	146894			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.647C>G	17.37:g.41931340C>G	ENSP00000321005:p.Pro216Arg		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889697	0.33348	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.08720	3.09;3.06;3.44;3.49	3.94	-3.08	0.05347	.	0.540486	0.16026	N	0.233093	T	0.11281	0.0275	L	0.38175	1.15	0.09310	N	1	D;D;D;D;D	0.89917	1.0;0.998;0.986;0.976;0.999	D;D;P;P;D	0.74674	0.984;0.937;0.76;0.654;0.968	T	0.17048	-1.0382	10	0.25751	T	0.34	-1.9951	3.2159	0.06699	0.2983:0.3541:0.0:0.3476	.	182;131;216;216;131	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2	.;.;.;CLM9_HUMAN;.	R	216;216;182;131	ENSP00000321005:P216R;ENSP00000442368:P216R;ENSP00000366408:P182R;ENSP00000293396:P131R	ENSP00000293396:P131R	P	+	2	0	CD300LG	39286866	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.026000	0.13599	-0.544000	0.06232	0.655000	0.94253	CCC		0.622	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		G	41931340	C	G	41931340	3	3	600	1	0	0	0	0	1	0	0	0	3004	623	22	4	661	4	CD300LG	17	41931340	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	4284516	41931340	39263870	112	32923											
HLF	3131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	53345220	53345220	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:53345220C>T	ENST00000226067.5	+	2	697	c.224C>T	c.(223-225)cCc>cTc	p.P75L	HLF_ENST00000573945.1_5'UTR|HLF_ENST00000430986.2_5'UTR|HLF_ENST00000575345.1_5'UTR	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	75					multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P75L(1)		large_intestine(1)|ovary(2)	3						AAAACCCTTCCCTATGACGGA	0.507			T	TCF3	ALL																																		Dom	yes		17	17q22	3131	hepatic leukemia factor		L	1	Substitution - Missense(1)	kidney(1)											113	110	111					17																	53345220		2203	4300	6503	SO:0001583	missense	3131				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.224C>T	17.37:g.53345220C>T	ENSP00000226067:p.Pro75Leu		A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017946	0.93404	.	.	ENSG00000108924	ENST00000226067	.	.	.	5.46	5.46	0.80206	.	0.064515	0.64402	D	0.000006	T	0.76399	0.3982	M	0.82193	2.58	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.80367	-0.1412	9	0.87932	D	0	.	18.4604	0.90736	0.0:1.0:0.0:0.0	.	75	Q16534	HLF_HUMAN	L	75	.	ENSP00000226067:P75L	P	+	2	0	HLF	50700219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.843000	0.97960	0.655000	0.94253	CCC		0.507	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		T	53345220	C	T	53345220	3	4	600	1	0	0	0	0	1	0	0	0	7216	623	22	2	230	2	HLF	17	53345220	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	11413880	53345220	27849990	113	32924											
MPO	4353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56349016	56349016	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:56349016C>T	ENST00000225275.3	-	11	2206	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	MPO_ENST00000340482.3_Splice_Site_p.R709Q	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	677					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R677Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CCCTCCTCACCGATCACCATC	0.642																																																1	Substitution - Missense(1)	kidney(1)											34	35	35					17																	56349016		2203	4300	6503	SO:0001630	splice_region_variant	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2030+1G>A	17.37:g.56349016C>T			A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792702	0.96945	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.78246	-1.16;-1.16	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95664	0.8718	9	.	.	.	-27.0689	18.2607	0.90034	0.0:1.0:0.0:0.0	.	677	P05164	PERM_HUMAN	Q	709;677	ENSP00000344419:R709Q;ENSP00000225275:R677Q	.	R	-	2	0	MPO	53704015	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	7.797000	0.85911	2.561000	0.86390	0.563000	0.77884	CGG		0.642	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		Missense_Mutation	T	56349016	C	T	56349016	5	4	600	1	0	0	0	0	0	0	1	0	9734	666	23	1	215	1	MPO	17	56349016	Splice_Site	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	3003796	56349016	24846194	114	32925											
MARCH10	162333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60814440	60814441	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:60814440_60814441CC>AG	ENST00000311269.5	-	6	1062_1063	c.788_789GG>CT	c.(787-789)gGG>gCT	p.G263A	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.G263A|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.G262A|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.G301A	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	263					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G263G(1)|p.G263A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCTTTCTTGGCCCTCCTACAGT	0.485																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.788_789delinsAG	17.37:g.60814440_60814441delinsAG	ENSP00000311496:p.Gly263Ala		D3DU09|Q8IYS7|Q8N7Z7	Silent|Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1																																																																																				0.485	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		AG	60814441	CC	AG	60814440	3	1	600	1	0	0	0	0	1	0	0	0	9301	726	26	4	1661	4	MARCH10	17	60814440	Missense_Mutation	DNP	CC	TCGA-CZ-5468-01A-01D-1501-10	4465424	60814440	20380770	115	32926											
SDK2	54549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	71420174	71420174	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:71420174G>A	ENST00000392650.3	-	13	1641	c.1641C>T	c.(1639-1641)cgC>cgT	p.R547R	SDK2_ENST00000388726.3_Silent_p.R547R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	547	Ig-like C2-type 6.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R547R(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TTCTGTCCAGGCGGATACGAG	0.587																																																1	Substitution - coding silent(1)	kidney(1)											50	40	43					17																	71420174		2203	4300	6503	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1641C>T	17.37:g.71420174G>A			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521500	0.27211	.	.	ENSG00000069188	ENST00000416616	.	.	.	5.55	0.845	0.18950	.	.	.	.	.	T	0.44052	0.1275	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29610	-1.0006	4	.	.	.	.	3.1771	0.06572	0.1385:0.2181:0.4644:0.179	.	.	.	.	S	452	.	.	P	-	1	0	SDK2	68931769	0.786000	0.28738	1.000000	0.80357	0.930000	0.56654	-0.108000	0.10857	0.710000	0.31997	0.655000	0.94253	CCT		0.587	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		A	71420174	G	A	71420174	2	1	600	1	0	0	0	0	0	0	0	1	13975	1190	42	2		2	SDK2	17	71420174	Silent	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	10605734	71420174	9775036	116	32927											
RNF213	57674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78321744	78321744	+	Silent	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:78321744A>G	ENST00000582970.1	+	29	9752	c.9609A>G	c.(9607-9609)gcA>gcG	p.A3203A	RNF213_ENST00000508628.2_Silent_p.A3252A|RNF213_ENST00000336301.6_Silent_p.A1276A	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3203					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A3252A(1)|p.A1276A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATGTCAAAGCACATCATTTCC	0.532																																																2	Substitution - coding silent(2)	kidney(2)											89	94	93					17																	78321744		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9609A>G	17.37:g.78321744A>G			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78321744	A	G	78321744	2	3	600	1	0	0	0	0	0	0	0	1	13483	146	6	3		3	RNF213	17	78321744	Silent	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	6901570	78321744	2873466	117	32928											
KIAA1012	22878	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29410858	29410858	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr18:29410858G>A	ENST00000283351.4	-	29	4503	c.4168C>T	c.(4168-4170)Ctg>Ttg	p.L1390L	TRAPPC8_ENST00000582539.1_Silent_p.L1336L	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1390					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.L1390L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGCTTTCAGCTGCAGACTG	0.418																																																1	Substitution - coding silent(1)	kidney(1)											123	107	112					18																	29410858		2203	4300	6503	SO:0001819	synonymous_variant	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.4168C>T	18.37:g.29410858G>A			A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	CCDS11901.1																																																																																				0.418	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		A	29410858	G	A	29410858	2	1	600	1	0	0	0	0	0	0	0	1	8206	962	34	2		2	KIAA1012	18	29410858	Silent	SNP	G	TCGA-CZ-5468-01A-01D-1501-10		29410858	48666390	118	32929											
MBD1	4152	hgsc.bcm.edu;ucsc.edu	37	18	47799227	47799227	+	Silent	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr18:47799227T>A	ENST00000591416.1	-	14	2114	c.1683A>T	c.(1681-1683)ccA>ccT	p.P561P	MBD1_ENST00000424334.2_Silent_p.P612P|MBD1_ENST00000436910.1_Silent_p.P492P|MBD1_ENST00000457839.2_Silent_p.P586P|MBD1_ENST00000398495.2_Silent_p.P530P|MBD1_ENST00000353909.3_Silent_p.P512P|MBD1_ENST00000398493.1_Silent_p.P505P|MBD1_ENST00000339998.6_Silent_p.P515P|MBD1_ENST00000269471.5_Silent_p.P492P|MBD1_ENST00000585595.1_Silent_p.P586P|MBD1_ENST00000590208.1_Silent_p.P561P|MBD1_ENST00000347968.3_Silent_p.P505P|MBD1_ENST00000585672.1_Silent_p.P511P|MBD1_ENST00000398488.1_Silent_p.P459P|MBD1_ENST00000591535.1_Silent_p.P492P|MBD1_ENST00000349085.2_Silent_p.P459P|MBD1_ENST00000588937.1_Silent_p.P492P|MBD1_ENST00000269468.5_Silent_p.P561P|MBD1_ENST00000382948.5_Silent_p.P561P|MBD1_ENST00000587605.1_Silent_p.P459P			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	561	TRD.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCTCTTCCTCTGGGGCCAATT	0.602																																																0													110	110	110					18																	47799227		2203	4300	6503	SO:0001819	synonymous_variant	4152			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1683A>T	18.37:g.47799227T>A			A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	CCDS11943.1																																																																																				0.602	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		A	47799227	T	A	47799227	2	1	600	1	0	0	0	0	0	0	0	1	9344	1567	55	5		5	MBD1	18	47799227	Silent	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	18388369	47799227	30278021	119	32930											
CDH7	1005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	63530103	63530103	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr18:63530103T>A	ENST00000397968.2	+	11	2240	c.1814T>A	c.(1813-1815)cTc>cAc	p.L605H	RP11-389J22.1_ENST00000581987.1_RNA|CDH7_ENST00000323011.3_Missense_Mutation_p.L605H|CDH7_ENST00000536984.2_Missense_Mutation_p.L605H	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	605					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L605H(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCTGCTGGCCTCAGTACAGGA	0.542																																																2	Substitution - Missense(2)	kidney(2)											107	94	98					18																	63530103		2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1814T>A	18.37:g.63530103T>A	ENSP00000381058:p.Leu605His		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.256698	0.59321	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.62105	0.05;0.27;0.05	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.88588	0.3141	10	0.87932	D	0	.	15.3548	0.74418	0.0:0.0:0.0:1.0	.	605;605	F5H5X9;Q9ULB5	.;CADH7_HUMAN	H	605	ENSP00000319166:L605H;ENSP00000443030:L605H;ENSP00000381058:L605H	ENSP00000319166:L605H	L	+	2	0	CDH7	61681083	1.000000	0.71417	0.933000	0.37362	0.040000	0.13550	8.013000	0.88655	2.044000	0.60594	0.482000	0.46254	CTC		0.542	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		A	63530103	T	A	63530103	3	1	600	1	0	0	0	0	1	0	0	0	3117	1551	54	5	1852	5	CDH7	18	63530103	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	15730876	63530103	14547145	120	32931											
ZNF536	9745	broad.mit.edu	37	19	30936491	30936491	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:30936491G>A	ENST00000355537.3	+	2	2169	c.2022G>A	c.(2020-2022)tcG>tcA	p.S674S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	674					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.S674S(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGTGGCTCGGGCAGTGACC	0.697																																																2	Substitution - coding silent(2)	breast(1)|kidney(1)											32	36	35					19																	30936491		2202	4296	6498	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2022G>A	19.37:g.30936491G>A			A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.697	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		A	30936491	G	A	30936491	2	1	600	1	0	0	0	0	0	0	0	1	17979	1103	39	1		1	ZNF536	19	30936491	Silent	SNP	G	TCGA-CZ-5468-01A-01D-1501-10		30936491	28192492	121	32932											
CCDC97	90324	broad.mit.edu	37	19	41826334	41826334	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:41826334C>T	ENST00000269967.3	+	4	992	c.870C>T	c.(868-870)caC>caT	p.H290H		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	290								p.H290H(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCCGCATGCACCAGCGCTTCC	0.637																																																1	Substitution - coding silent(1)	kidney(1)											102	87	92					19																	41826334		2203	4300	6503	SO:0001819	synonymous_variant	90324			BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.870C>T	19.37:g.41826334C>T			Q658N6|Q96IF3	Silent	SNP	ENST00000269967.3	37	CCDS12578.1																																																																																				0.637	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		T	41826334	C	T	41826334	2	4	600	1	0	0	0	0	0	0	0	1	2877	506	18	2		2	CCDC97	19	41826334	Silent	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	10889843	41826334	17302649	122	32933											
PSG8	440533	broad.mit.edu;hgsc.bcm.edu	37	19	43262176	43262176	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:43262176G>T	ENST00000306511.4	-	3	784	c.687C>A	c.(685-687)gaC>gaA	p.D229E	PSG8_ENST00000404209.4_Missense_Mutation_p.D229E|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.D107E	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	229	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.D229E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTGAATGGGTCACTGCGGC	0.527																																																1	Substitution - Missense(1)	kidney(1)											209	219	216					19																	43262176		2203	4299	6502	SO:0001583	missense	440533			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.687C>A	19.37:g.43262176G>T	ENSP00000305005:p.Asp229Glu		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	13.53	2.266058	0.40095	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000426252;ENST00000306511	T;T;T	0.12147	2.71;2.71;2.71	1.53	0.44	0.16572	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25901	0.0631	L	0.59912	1.85	0.09310	N	0.999991	B;D;D;D	0.76494	0.007;0.998;0.999;0.999	B;D;D;D	0.81914	0.03;0.987;0.991;0.995	T	0.09751	-1.0660	9	0.87932	D	0	.	3.3042	0.06993	0.2851:0.0:0.7149:0.0	.	107;229;229;229	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	E	229;104;107;41;229	ENSP00000385869:D229E;ENSP00000385081:D107E;ENSP00000305005:D229E	ENSP00000292109:D104E	D	-	3	2	PSG8	47954016	0.842000	0.29525	0.178000	0.23040	0.079000	0.17450	-0.185000	0.09684	0.835000	0.34877	0.298000	0.19748	GAC		0.527	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			T	43262176	G	T	43262176	3	4	600	1	0	0	0	0	1	0	0	0	12666	1252	44	4	626	4	PSG8	19	43262176	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	1435842	43262176	15866807	123	32934											
PVRL2	5819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45391608	45391608	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:45391608T>C	ENST00000252483.5	+	9	1589	c.1589T>C	c.(1588-1590)tTt>tCt	p.F530S	TOMM40_ENST00000592434.1_5'Flank|CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000405636.2_5'Flank|TOMM40_ENST00000426677.2_5'Flank|TOMM40_ENST00000252487.5_5'Flank	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	530					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)	p.F530S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GGCAAAGGCTTTGTCATGTCC	0.547																																																1	Substitution - Missense(1)	kidney(1)											90	84	86					19																	45391608		1983	4161	6144	SO:0001583	missense	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1589T>C	19.37:g.45391608T>C	ENSP00000252483:p.Phe530Ser		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964794	0.74131	.	.	ENSG00000130202	ENST00000252483	D	0.92249	-3.0	4.67	4.67	0.58626	.	0.000000	0.51477	D	0.000096	D	0.92675	0.7672	L	0.29908	0.895	0.44570	D	0.997533	D	0.71674	0.998	D	0.78314	0.991	D	0.93358	0.6724	10	0.87932	D	0	.	12.3773	0.55287	0.0:0.0:0.0:1.0	.	530	Q92692	PVRL2_HUMAN	S	530	ENSP00000252483:F530S	ENSP00000252483:F530S	F	+	2	0	PVRL2	50083448	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.289000	0.59013	2.093000	0.63338	0.379000	0.24179	TTT		0.547	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		C	45391608	T	C	45391608	3	2	600	1	0	0	0	0	1	0	0	0	12846	1841	64	3	2025	3	PVRL2	19	45391608	Missense_Mutation	SNP	T	TCGA-CZ-5468-01A-01D-1501-10	2129432	45391608	13737375	124	32935											
RELB	5971	broad.mit.edu	37	19	45525450	45525450	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:45525450A>G	ENST00000221452.8	+	5	794	c.644A>G	c.(643-645)cAc>cGc	p.H215R	RELB_ENST00000540120.1_Missense_Mutation_p.H215R|RELB_ENST00000505236.1_Missense_Mutation_p.H212R	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	215	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.H215R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTCCGGCCTCACGTCAGCCCC	0.632																																																1	Substitution - Missense(1)	kidney(1)											42	50	47					19																	45525450		2071	4198	6269	SO:0001583	missense	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.644A>G	19.37:g.45525450A>G	ENSP00000221452:p.His215Arg		Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.464935	0.43839	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.40756	1.02;1.02;1.02	4.74	4.74	0.60224	.	0.134889	0.48286	D	0.000200	T	0.32556	0.0833	L	0.31926	0.97	0.43868	D	0.99647	B	0.15141	0.012	B	0.10450	0.005	T	0.10337	-1.0634	10	0.41790	T	0.15	-21.6906	12.2322	0.54495	1.0:0.0:0.0:0.0	.	212	D6R992	.	R	215;215;212	ENSP00000221452:H215R;ENSP00000445542:H215R;ENSP00000423287:H212R	ENSP00000221452:H215R	H	+	2	0	RELB	50217290	0.979000	0.34478	1.000000	0.80357	0.979000	0.70002	2.514000	0.45503	1.982000	0.57802	0.379000	0.24179	CAC		0.632	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			G	45525450	A	G	45525450	3	3	600	1	0	0	0	0	1	0	0	0	13223	159	6	3	654	3	RELB	19	45525450	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	133842	45525450	13603533	125	32936											
SYMPK	8189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46319803	46319803	+	Silent	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:46319803G>T	ENST00000245934.7	-	25	3535	c.3291C>A	c.(3289-3291)atC>atA	p.I1097I	RSPH6A_ENST00000597055.1_5'Flank|RSPH6A_ENST00000221538.3_5'Flank|SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1097					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.I1097I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGGCCTCCAAGATGGTCATGA	0.652																																																1	Substitution - coding silent(1)	kidney(1)											37	41	39					19																	46319803		2203	4300	6503	SO:0001819	synonymous_variant	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3291C>A	19.37:g.46319803G>T			O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	CCDS12676.2																																																																																				0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		T	46319803	G	T	46319803	2	4	600	1	0	0	0	0	0	0	0	1	15444	932	33	4		4	SYMPK	19	46319803	Silent	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	794353	46319803	12809180	126	32937											
ZNF600	162966	broad.mit.edu;hgsc.bcm.edu	37	19	53269213	53269213	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:53269213C>G	ENST00000338230.3	-	3	2063	c.1796G>C	c.(1795-1797)aGa>aCa	p.R599T		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R599T(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTGGTATGTCTTGCCAGGTA	0.393																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)											1	Substitution - Missense(1)	kidney(1)											163	158	160					19																	53269213		2203	4300	6503	SO:0001583	missense	162966			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1796G>C	19.37:g.53269213C>G	ENSP00000344791:p.Arg599Thr		Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	0.083	-1.179933	0.01633	.	.	ENSG00000189190	ENST00000338230	T	0.07327	3.2	1.51	-1.73	0.08081	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	L	0.48642	1.525	0.09310	N	1	B	0.28605	0.217	B	0.31547	0.132	T	0.44802	-0.9304	9	0.10902	T	0.67	.	1.3316	0.02136	0.2137:0.4266:0.2108:0.1488	.	599	Q6ZNG1	ZN600_HUMAN	T	599	ENSP00000344791:R599T	ENSP00000344791:R599T	R	-	2	0	ZNF600	57961025	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.288000	0.08377	-0.526000	0.06383	-1.038000	0.02383	AGA		0.393	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		G	53269213	C	G	53269213	3	3	600	1	0	0	0	0	1	0	0	0	18035	913	32	4	376	4	ZNF600	19	53269213	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	6949410	53269213	5859770	127	32938			1	52		3	3	534	C		2.853887e-06
ZNF600	162966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53269727	53269727	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:53269727C>A	ENST00000338230.3	-	3	1549	c.1282G>T	c.(1282-1284)Gat>Tat	p.D428Y		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D428Y(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ATTAGAAGATCTGAATTTTGA	0.363																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)											1	Substitution - Missense(1)	kidney(1)											94	93	94					19																	53269727		2203	4300	6503	SO:0001583	missense	162966			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1282G>T	19.37:g.53269727C>A	ENSP00000344791:p.Asp428Tyr		Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.076573	0.00375	.	.	ENSG00000189190	ENST00000338230	T	0.07800	3.16	1.57	-3.14	0.05250	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03651	0.0104	N	0.21324	0.655	0.09310	N	1	P	0.47350	0.894	B	0.38156	0.266	T	0.15492	-1.0435	9	0.22109	T	0.4	.	1.3326	0.02138	0.1239:0.2704:0.222:0.3837	.	428	Q6ZNG1	ZN600_HUMAN	Y	428	ENSP00000344791:D428Y	ENSP00000344791:D428Y	D	-	1	0	ZNF600	57961539	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-8.388000	0.00021	-2.645000	0.00427	-0.901000	0.02856	GAT		0.363	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		A	53269727	C	A	53269727	3	1	600	1	0	0	0	0	1	0	0	0	18035	913	32	4	890	4	ZNF600	19	53269727	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	514	53269727	5859256	128	32939			1	52		3	3	534	C		2.853887e-06
ZNF600	162966	broad.mit.edu;hgsc.bcm.edu	37	19	53269746	53269746	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:53269746C>A	ENST00000338230.3	-	3	1530	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K421N(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GACCAAAGGTCTTCCCACATT	0.373																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)											1	Substitution - Missense(1)	kidney(1)											102	101	102					19																	53269746		2203	4300	6503	SO:0001583	missense	162966			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1263G>T	19.37:g.53269746C>A	ENSP00000344791:p.Lys421Asn		Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	11.97	1.797291	0.31777	.	.	ENSG00000189190	ENST00000338230	T	0.27890	1.64	1.57	-3.14	0.05250	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50599	0.1625	M	0.87269	2.87	0.09310	N	0.999996	D	0.76494	0.999	D	0.83275	0.996	T	0.43621	-0.9380	9	0.87932	D	0	.	2.6075	0.04882	0.2131:0.4238:0.0:0.3631	.	421	Q6ZNG1	ZN600_HUMAN	N	421	ENSP00000344791:K421N	ENSP00000344791:K421N	K	-	3	2	ZNF600	57961558	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.669000	0.01958	-0.925000	0.03775	0.298000	0.19748	AAG		0.373	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		A	53269746	C	A	53269746	3	1	600	1	0	0	0	0	1	0	0	0	18035	912	32	4	909	4	ZNF600	19	53269746	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	19	53269746	5859237	129	32940			1	52		3	3	534	C		2.853887e-06
UBOX5	22888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3103217	3103217	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr20:3103217C>T	ENST00000217173.2	-	3	539	c.68G>A	c.(67-69)gGt>gAt	p.G23D	UBOX5_ENST00000348031.2_Missense_Mutation_p.G23D|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5									p.G23D(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TACTTCGTAACCATCAGCTGA	0.363																																																1	Substitution - Missense(1)	kidney(1)											53	54	54					20																	3103217		2202	4300	6502	SO:0001583	missense	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.68G>A	20.37:g.3103217C>T	ENSP00000217173:p.Gly23Asp			Missense_Mutation	SNP	ENST00000217173.2	37	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913392	0.72983	.	.	ENSG00000185019	ENST00000217173;ENST00000348031;ENST00000449731	T;T;T	0.46451	0.87;0.87;0.87	5.2	5.2	0.72013	.	0.000000	0.85682	U	0.000000	T	0.67249	0.2873	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.69807	-0.5045	10	0.52906	T	0.07	-7.059	18.7354	0.91751	0.0:1.0:0.0:0.0	.	23;23;23	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	D	23	ENSP00000217173:G23D;ENSP00000311726:G23D;ENSP00000404364:G23D	ENSP00000217173:G23D	G	-	2	0	UBOX5	3051217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.695000	0.68279	2.412000	0.81896	0.557000	0.71058	GGT		0.363	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		T	3103217	C	T	3103217	3	4	600	1	0	0	0	0	1	0	0	0	16899	507	18	2	1569	2	UBOX5	20	3103217	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10		3103217	59922303	130	32941											
TMX4	56255	hgsc.bcm.edu	37	20	7963240	7963240	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr20:7963240A>T	ENST00000246024.2	-	8	923	c.708T>A	c.(706-708)caT>caA	p.H236Q		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	236	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GTTCAGCTCTATGAGCCTCCT	0.403																																																0													69	59	62					20																	7963240		2203	4300	6503	SO:0001583	missense	56255				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.708T>A	20.37:g.7963240A>T	ENSP00000246024:p.His236Gln		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.821041	0.32237	.	.	ENSG00000125827	ENST00000246024	T	0.08807	3.05	6.03	-9.49	0.00587	.	1.002150	0.08037	N	0.994427	T	0.03477	0.0100	N	0.17674	0.51	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41502	-0.9505	10	0.09590	T	0.72	-1.1237	7.229	0.26033	0.2424:0.0:0.4665:0.2911	.	236	Q9H1E5	TMX4_HUMAN	Q	236	ENSP00000246024:H236Q	ENSP00000246024:H236Q	H	-	3	2	TMX4	7911240	0.000000	0.05858	0.000000	0.03702	0.853000	0.48598	-3.312000	0.00516	-2.280000	0.00675	-0.503000	0.04515	CAT		0.403	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		T	7963240	A	T	7963240	3	4	600	1	0	0	0	0	1	0	0	0	16274	446	16	5	345	5	TMX4	20	7963240	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	4860023	7963240	55062280	131	32942											
ABHD12	26090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	25282909	25282909	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr20:25282909A>C	ENST00000339157.5	-	12	1375	c.1103T>G	c.(1102-1104)cTt>cGt	p.L368R	ABHD12_ENST00000376542.3_Missense_Mutation_p.L368R	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	368					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)	p.L368R(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CCTGTAGCCAAGGTCTGAATG	0.542																																																2	Substitution - Missense(2)	kidney(2)											140	124	130					20																	25282909		2203	4300	6503	SO:0001583	missense	26090			AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"Abhydrolase domain containing"	15868	protein-coding gene	gene with protein product		613599	"chromosome 20 open reading frame 22"	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.1103T>G	20.37:g.25282909A>C	ENSP00000341408:p.Leu368Arg		A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	37	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.861848	0.51482	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	T;T	0.21543	2.11;2.0	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	L	0.39245	1.2	0.80722	D	1	P;D;D	0.89917	0.933;0.999;1.0	P;D;D	0.87578	0.512;0.996;0.998	T	0.03423	-1.1038	10	0.21014	T	0.42	-1.47	14.6085	0.68498	1.0:0.0:0.0:0.0	.	330;368;368	Q8N2K0-3;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	R	368;368;330	ENSP00000365725:L368R;ENSP00000341408:L368R	ENSP00000341408:L368R	L	-	2	0	ABHD12	25230909	1.000000	0.71417	0.996000	0.52242	0.516000	0.34256	8.401000	0.90202	2.116000	0.64780	0.459000	0.35465	CTT		0.542	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		C	25282909	A	C	25282909	3	2	600	1	0	0	0	0	1	0	0	0	76	72	3	5	163	5	ABHD12	20	25282909	Missense_Mutation	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	17319669	25282909	37742611	132	32943											
PHF20	51230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34459730	34459730	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr20:34459730C>A	ENST00000374012.3	+	9	1390	c.1261C>A	c.(1261-1263)Caa>Aaa	p.Q421K	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	421					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q421K(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGTGGAATTACAAGAGATTTC	0.388																																																1	Substitution - Missense(1)	kidney(1)											90	93	92					20																	34459730		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1261C>A	20.37:g.34459730C>A	ENSP00000363124:p.Gln421Lys		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	5.864	0.343600	0.11126	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.41065	1.61;1.01;1.01	5.56	3.37	0.38596	.	0.455995	0.24016	N	0.042333	T	0.24198	0.0586	N	0.19112	0.55	0.41238	D	0.98662	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05801	-1.0863	10	0.08179	T	0.78	.	11.6893	0.51505	0.3328:0.6672:0.0:0.0	.	421;421	Q9BVI0;Q66K49	PHF20_HUMAN;.	K	421	ENSP00000363124:Q421K;ENSP00000341900:Q421K;ENSP00000363112:Q421K	ENSP00000341900:Q421K	Q	+	1	0	PHF20	33923144	0.876000	0.30132	0.831000	0.32960	0.020000	0.10135	1.560000	0.36331	1.306000	0.44926	0.591000	0.81541	CAA		0.388	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		A	34459730	C	A	34459730	3	1	600	1	0	0	0	0	1	0	0	0	11833	479	17	4	1291	4	PHF20	20	34459730	Missense_Mutation	SNP	C	TCGA-CZ-5468-01A-01D-1501-10	9176821	34459730	28565790	133	32944											
LIPI	149998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	15579141	15579141	+	Intron	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr21:15579141C>T	ENST00000536861.1	-	1	46				LIPI_ENST00000344577.2_Missense_Mutation_p.R35K			Q6XZB0	LIPI_HUMAN	lipase, member I						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.R35K(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		attacctgatctcaggcacac	0.358																																																1	Substitution - Missense(1)	kidney(1)											67	69	68					21																	15579141		2203	4300	6503	SO:0001627	intron_variant	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.46+3979G>A	21.37:g.15579141C>T			G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	C	0.087	-1.173406	0.01646	.	.	ENSG00000188992	ENST00000344577	D	0.90844	-2.74	2.38	-0.75	0.11080	.	1.266950	0.05150	N	0.495868	T	0.77671	0.4165	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.64592	-0.6371	10	0.05721	T	0.95	.	0.8341	0.01136	0.2385:0.367:0.2347:0.1599	.	35	Q6XZB0-2	.	K	35	ENSP00000343331:R35K	ENSP00000343331:R35K	R	-	2	0	LIPI	14501012	0.001000	0.12720	0.000000	0.03702	0.376000	0.30014	0.477000	0.22196	-0.203000	0.10251	0.514000	0.50259	AGA		0.358	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		T	15579141	C	T	15579141	1	4	600	0	1	0	0	0	0	0	0	0	8827	913	32	2		2	LIPI	21	15579141	Intron	SNP	C	TCGA-CZ-5468-01A-01D-1501-10		15579141	32550754	134	32945											
RWDD2B	10069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	30380357	30380357	+	Silent	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr21:30380357A>G	ENST00000493196.1	-	4	550	c.450T>C	c.(448-450)tgT>tgC	p.C150C	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	150	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.							p.C150C(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						CATTCAGTATACAAACATCTC	0.443																																																1	Substitution - coding silent(1)	kidney(1)											79	75	76					21																	30380357		2203	4300	6503	SO:0001819	synonymous_variant	10069			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 6"	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.450T>C	21.37:g.30380357A>G				Silent	SNP	ENST00000493196.1	37	CCDS13582.1																																																																																				0.443	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			G	30380357	A	G	30380357	2	3	600	1	0	0	0	0	0	0	0	1	13762	389	14	3		3	RWDD2B	21	30380357	Silent	SNP	A	TCGA-CZ-5468-01A-01D-1501-10	14801216	30380357	17749538	135	32946											
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	41741148	41741148	+	Missense_Mutation	SNP	G	G	A	rs200160585		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr21:41741148G>A	ENST00000400454.1	-	4	1010	c.533C>T	c.(532-534)aCg>aTg	p.T178M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	178	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T178M(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAGGCTCCCGTGGATGTGAT	0.438																																					Melanoma(134;970 1778 1785 21664 32388)											1	Substitution - Missense(1)	kidney(1)											83	83	83					21																	41741148		1907	4123	6030	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.533C>T	21.37:g.41741148G>A	ENSP00000383303:p.Thr178Met		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050741	0.75960	.	.	ENSG00000171587	ENST00000400454	T	0.78246	-1.16	6.07	4.28	0.50868	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.112930	0.64402	N	0.000013	T	0.77329	0.4114	M	0.73962	2.25	0.43242	D	0.99515	B	0.34290	0.447	B	0.35182	0.197	T	0.76096	-0.3084	10	0.49607	T	0.09	.	13.1387	0.59423	0.1294:0.0:0.8706:0.0	.	178	O60469	DSCAM_HUMAN	M	178	ENSP00000383303:T178M	ENSP00000383303:T178M	T	-	2	0	DSCAM	40663018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.840000	0.86819	0.910000	0.36722	0.655000	0.94253	ACG		0.438	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		A	41741148	G	A	41741148	3	1	600	1	0	0	0	0	1	0	0	0	4770	1145	40	1	5625	1	DSCAM	21	41741148	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	11360791	41741148	6388747	136	32947											
PPIL2	23759	broad.mit.edu;ucsc.edu	37	22	22024876	22024876	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr22:22024876G>A	ENST00000335025.8	+	3	195	c.104G>A	c.(103-105)cGt>cAt	p.R35H	PPIL2_ENST00000398831.3_Missense_Mutation_p.R35H|PPIL2_ENST00000456792.2_Missense_Mutation_p.R35H|PPIL2_ENST00000406385.1_Missense_Mutation_p.R35H|PPIL2_ENST00000412327.1_Missense_Mutation_p.R35H|PPIL2_ENST00000492445.2_Missense_Mutation_p.R35H					peptidylprolyl isomerase (cyclophilin)-like 2									p.R35H(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ACAAATTTTCGTCGTTTACCT	0.373																																																1	Substitution - Missense(1)	kidney(1)											171	161	164					22																	22024876		2202	4300	6502	SO:0001583	missense	23759				CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"U-box domain containing"	9261	protein-coding gene	gene with protein product	"U-box domain containing 7"	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.104G>A	22.37:g.22024876G>A	ENSP00000334553:p.Arg35His			Missense_Mutation	SNP	ENST00000335025.8	37	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602783	0.87157	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000458567;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.29917	1.63;1.65;1.65;1.65;1.65;1.55	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.77406	2.37	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.943;0.975;0.982	T	0.59337	-0.7473	10	0.87932	D	0	.	13.3043	0.60342	0.0:0.0:1.0:0.0	.	35;35;35	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	H	35;35;35;35;66;35;35	ENSP00000390427:R35H;ENSP00000334553:R35H;ENSP00000381812:R35H;ENSP00000445312:R35H;ENSP00000384299:R35H;ENSP00000396228:R35H	ENSP00000334553:R35H	R	+	2	0	PPIL2	20354876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.159000	0.71856	2.598000	0.87819	0.563000	0.77884	CGT		0.373	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			A	22024876	G	A	22024876	3	1	600	1	0	0	0	0	1	0	0	0	12332	1145	40	1	114	1	PPIL2	22	22024876	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10		22024876	29279690	137	32948											
ENTHD1	150350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40283658	40283658	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr22:40283658G>A	ENST00000325157.6	-	2	345	c.95C>T	c.(94-96)cCc>cTc	p.P32L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	32	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.							p.P32L(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGAACTAGAGGGACCCCAAGG	0.403																																																1	Substitution - Missense(1)	kidney(1)											107	107	107					22																	40283658		2203	4300	6503	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.95C>T	22.37:g.40283658G>A	ENSP00000317431:p.Pro32Leu		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418571	0.83559	.	.	ENSG00000176177	ENST00000325157	T	0.64438	-0.1	5.42	5.42	0.78866	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.64402	D	0.000003	D	0.87006	0.6070	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91368	0.5117	10	0.87932	D	0	-16.8875	14.7814	0.69769	0.0715:0.0:0.9285:0.0	.	32	Q8IYW4	ENTD1_HUMAN	L	32	ENSP00000317431:P32L	ENSP00000317431:P32L	P	-	2	0	ENTHD1	38613604	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.146000	0.58072	2.703000	0.92315	0.655000	0.94253	CCC		0.403	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		A	40283658	G	A	40283658	3	1	600	1	0	0	0	0	1	0	0	0	5139	1232	43	2	1752	2	ENTHD1	22	40283658	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10	18258782	40283658	11020908	138	32949											
MXRA5	25878	broad.mit.edu;hgsc.bcm.edu	37	X	3235733	3235733	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chrX:3235733G>A	ENST00000217939.6	-	6	6143	c.5989C>T	c.(5989-5991)Ccc>Tcc	p.P1997S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1997	Ig-like C2-type 4.					extracellular vesicular exosome (GO:0070062)		p.P1997S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCTCCACGGGGGACACAGTT	0.592																																																2	Substitution - Missense(2)	kidney(2)											48	45	46					X																	3235733		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5989C>T	X.37:g.3235733G>A	ENSP00000217939:p.Pro1997Ser		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	3.350	-0.132656	0.06753	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.77620	-1.11	3.55	-0.11	0.13580	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.240076	0.20613	U	0.088927	T	0.50650	0.1628	N	0.05124	-0.11	0.09310	N	1	P	0.42735	0.788	P	0.45167	0.472	T	0.50750	-0.8791	10	0.12103	T	0.63	.	1.0331	0.01542	0.1315:0.2452:0.271:0.3523	.	1997	Q9NR99	MXRA5_HUMAN	S	1997	ENSP00000217939:P1997S	ENSP00000217939:P1997S	P	-	1	0	MXRA5	3245733	0.000000	0.05858	0.481000	0.27354	0.042000	0.13812	0.306000	0.19279	-0.007000	0.14345	-0.236000	0.12185	CCC		0.592	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		A	3235733	G	A	3235733	3	1	600	1	0	0	0	0	1	0	0	0	10005	1232	43	2	2505	2	MXRA5	23	3235733	Missense_Mutation	SNP	G	TCGA-CZ-5468-01A-01D-1501-10		3235733	152034827	139	32950											
HSPG2	3339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22222714	22222714	+	Silent	SNP	C	C	T	rs370635954		TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr1:22222714C>T	ENST00000374695.3	-	2	232	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	51					angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S51S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGAAAGGTACGAATGTGTCC	0.557																																																1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	255	208	224		153	-9.7	0	1		224	0,8600		0,0,4300	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		51/4392	22222714	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.153G>A	1.37:g.22222714C>T			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1																																																																																				0.557	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22222714	C	T	22222714	2	4	601	1	0	0	0	0	0	0	0	1	7432	523	19	1		1	HSPG2	1	22222714	Silent	SNP	C	TCGA-CZ-5469-01A-01D-1501-10		22222714	227027907	1	32951											
TINAGL1	64129	broad.mit.edu;ucsc.edu	37	1	32050373	32050373	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr1:32050373G>T	ENST00000271064.7	+	6	753	c.677G>T	c.(676-678)tGt>tTt	p.C226F	TINAGL1_ENST00000457433.2_Missense_Mutation_p.C195F|TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	226					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.C226F(1)		breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CAAGGCAACTGTGCAGGCTCC	0.617																																																1	Substitution - Missense(1)	kidney(1)											72	68	69					1																	32050373		2203	4300	6503	SO:0001583	missense	64129			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.677G>T	1.37:g.32050373G>T	ENSP00000271064:p.Cys226Phe		A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.187676	0.78789	.	.	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.98164	-4.76;-4.76	4.78	4.78	0.61160	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.98802	4.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97987	1.0352	10	0.87932	D	0	.	17.7882	0.88545	0.0:0.0:1.0:0.0	.	195;226	B4DPK6;Q9GZM7	.;TINAL_HUMAN	F	195;226;214	ENSP00000395137:C195F;ENSP00000271064:C226F	ENSP00000271064:C226F	C	+	2	0	TINAGL1	31822960	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.591000	0.98241	2.365000	0.80145	0.313000	0.20887	TGT		0.617	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		T	32050373	G	T	32050373	3	4	601	1	0	0	0	0	1	0	0	0	15927	1377	48	4	695	4	TINAGL1	1	32050373	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10	9827659	32050373	217200248	2	32952											
THRAP3	9967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36755253	36755253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr1:36755253C>T	ENST00000354618.5	+	5	1857	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.R545*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	545	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R545*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCTGAGAGCCGAGACAAGCT	0.498			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Nonsense(1)	kidney(1)											86	93	90					1																	36755253		2203	4300	6503	SO:0001587	stop_gained	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1633C>T	1.37:g.36755253C>T	ENSP00000346634:p.Arg545*		D3DPS5|Q5VTK6	Nonsense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	40	8.377516	0.98784	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	.	.	.	6.06	5.1	0.69264	.	0.162047	0.41938	D	0.000793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3136	12.2869	0.54797	0.2929:0.7071:0.0:0.0	.	.	.	.	X	545	.	ENSP00000346634:R545X	R	+	1	2	THRAP3	36527840	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.490000	0.45294	2.882000	0.98803	0.655000	0.94253	CGA		0.498	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		T	36755253	C	T	36755253	4	4	601	1	0	0	0	0	0	1	0	0	15879	644	23	1	1643	1	THRAP3	1	36755253	Nonsense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10	4704880	36755253	212495368	3	32953											
AMPD2	271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110170727	110170727	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr1:110170727C>G	ENST00000256578.3	+	10	1625	c.1265C>G	c.(1264-1266)tCg>tGg	p.S422W	AMPD2_ENST00000528454.1_Missense_Mutation_p.S304W|AMPD2_ENST00000393688.3_Missense_Mutation_p.S303W|AMPD2_ENST00000358729.4_Missense_Mutation_p.S347W|AMPD2_ENST00000342115.4_Missense_Mutation_p.S341W|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.S422W	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	422					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.S422W(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCATGCCTCGTCCTGCATG	0.607																																																1	Substitution - Missense(1)	kidney(1)											67	63	65					1																	110170727		2203	4300	6503	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1265C>G	1.37:g.110170727C>G	ENSP00000256578:p.Ser422Trp		B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588961	0.86851	.	.	ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	D;D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04	5.04	5.04	0.67666	Adenosine/AMP deaminase (1);	0.066752	0.64402	D	0.000007	D	0.96278	0.8786	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.987;1.0;1.0;1.0	D	0.96660	0.9488	10	0.87932	D	0	-13.1768	17.3138	0.87217	0.0:1.0:0.0:0.0	.	347;303;422;341	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	W	341;422;422;347;304;303	ENSP00000345498:S341W;ENSP00000436541:S422W;ENSP00000256578:S422W;ENSP00000351573:S347W;ENSP00000437164:S304W;ENSP00000377292:S303W	ENSP00000256578:S422W	S	+	2	0	AMPD2	109972250	1.000000	0.71417	0.980000	0.43619	0.975000	0.68041	7.577000	0.82486	2.634000	0.89283	0.561000	0.74099	TCG		0.607	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			G	110170727	C	G	110170727	3	3	601	1	0	0	0	0	1	0	0	0	586	893	31	4	1344	4	AMPD2	1	110170727	Missense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10	73415474	110170727	139079894	4	32954											
DCST2	127579	broad.mit.edu;ucsc.edu	37	1	155002622	155002622	+	Missense_Mutation	SNP	G	G	A	rs138904334		TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr1:155002622G>A	ENST00000368424.3	-	7	1173	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	DCST2_ENST00000295536.5_Missense_Mutation_p.T372M	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	372						integral component of membrane (GO:0016021)		p.T372M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGCCCTGCCGTGGAGCGCAC	0.597																																																1	Substitution - Missense(1)	kidney(1)						G	MET/THR	0,4406		0,0,2203	87	86	86		1115	-8.8	0	1	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCST2	NM_144622.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	372/774	155002622	1,13005	2203	4300	6503	SO:0001583	missense	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1115C>T	1.37:g.155002622G>A	ENSP00000357409:p.Thr372Met		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	3.014	-0.203265	0.06180	0.0	1.16E-4	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.30981	1.51;1.51	4.38	-8.77	0.00827	Dendritic cell-specific transmembrane protein-like (1);	2.003710	0.02617	N	0.102803	T	0.03564	0.0102	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.07829	-1.0752	10	0.48119	T	0.1	3.7718	0.4085	0.00437	0.303:0.2951:0.1873:0.2146	.	372	Q5T1A1	DCST2_HUMAN	M	372	ENSP00000357409:T372M;ENSP00000295536:T372M	ENSP00000295536:T372M	T	-	2	0	DCST2	153269246	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.767000	0.00188	-2.366000	0.00606	-0.136000	0.14681	ACG		0.597	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		A	155002622	G	A	155002622	3	1	601	1	0	0	0	0	1	0	0	0	4305	1145	40	1	1242	1	DCST2	1	155002622	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10	44831895	155002622	94247999	5	32955											
GON4L	54856	broad.mit.edu;hgsc.bcm.edu	37	1	155764938	155764938	+	Silent	SNP	T	T	C			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr1:155764938T>C	ENST00000368331.1	-	12	1698	c.1650A>G	c.(1648-1650)gaA>gaG	p.E550E	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.E550E|GON4L_ENST00000271883.5_Silent_p.E550E|GON4L_ENST00000361040.5_Silent_p.E550E	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	550	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E550E(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATCATCTGCTTCATCTAGGA	0.383																																																3	Substitution - coding silent(3)	kidney(3)											86	83	84					1																	155764938		2203	4300	6503	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1650A>G	1.37:g.155764938T>C			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37																																																																																					0.383	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		C	155764938	T	C	155764938	2	2	601	1	0	0	0	0	0	0	0	1	6574	1606	56	3		3	GON4L	1	155764938	Silent	SNP	T	TCGA-CZ-5469-01A-01D-1501-10	762316	155764938	93485683	6	32956	246	2									
GON4L	54856	broad.mit.edu;hgsc.bcm.edu	37	1	155764940	155764940	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr1:155764940C>T	ENST00000368331.1	-	12	1696	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.E550K|GON4L_ENST00000271883.5_Missense_Mutation_p.E550K|GON4L_ENST00000361040.5_Missense_Mutation_p.E550K	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	550	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E550K(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCATCTGCTTCATCTAGGAAA	0.383																																																3	Substitution - Missense(3)	kidney(3)											83	80	81					1																	155764940		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1648G>A	1.37:g.155764940C>T	ENSP00000357315:p.Glu550Lys		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	C	29.1	4.979101	0.92982	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.15139	2.61;2.61;2.61;2.45	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	M	0.69823	2.125	0.51482	D	0.999927	D;D;D;D;D;D	0.76494	0.999;0.997;0.999;0.999;0.998;0.999	D;P;D;D;D;D	0.83275	0.994;0.894;0.996;0.99;0.989;0.995	T	0.05683	-1.0870	10	0.59425	D	0.04	.	18.6864	0.91565	0.0:1.0:0.0:0.0	.	330;244;550;550;550;550	Q6PHZ4;Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;.;GON4L_HUMAN;.	K	550;550;550;550;550;29	ENSP00000396117:E550K;ENSP00000357315:E550K;ENSP00000271883:E550K;ENSP00000354322:E550K	ENSP00000271883:E550K	E	-	1	0	GON4L	154031564	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.499000	0.66937	2.807000	0.96579	0.591000	0.81541	GAA		0.383	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		T	155764940	C	T	155764940	3	4	601	1	0	0	0	0	1	0	0	0	6574	835	29	2	5275	2	GON4L	1	155764940	Missense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10	2	155764940	93485681	7	32957	246	2									
PSEN2	5664	broad.mit.edu;hgsc.bcm.edu	37	1	227073330	227073330	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr1:227073330G>T	ENST00000366783.3	+	6	884	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	PSEN2_ENST00000391872.2_Missense_Mutation_p.V183L|PSEN2_ENST00000472139.2_Missense_Mutation_p.V6L|PSEN2_ENST00000422240.2_Missense_Mutation_p.V150L|PSEN2_ENST00000340188.4_Missense_Mutation_p.V150L|PSEN2_ENST00000366782.1_Missense_Mutation_p.V183L	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	150					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)	p.V150L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CAGCGTCATCGTGGTTATGAC	0.597																																																1	Substitution - Missense(1)	kidney(1)											220	145	170					1																	227073330		2203	4300	6503	SO:0001583	missense	5664			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"Alzheimer disease 4"	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.448G>T	1.37:g.227073330G>T	ENSP00000355747:p.Val150Leu		A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968323	0.53614	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D	0.99652	-6.3;-6.3;-6.3;-6.3;-6.3;-6.3	5.27	5.27	0.74061	.	0.059913	0.64402	D	0.000003	D	0.98251	0.9421	L	0.52759	1.655	0.80722	D	1	B;B	0.12630	0.003;0.006	B;B	0.21360	0.023;0.034	D	0.95649	0.8705	10	0.39692	T	0.17	.	7.1259	0.25471	0.1495:0.1463:0.7042:0.0	.	150;150	A8K8D4;P49810	.;PSN2_HUMAN	L	150;150;150;183;183;6	ENSP00000355747:V150L;ENSP00000339860:V150L;ENSP00000403737:V150L;ENSP00000355746:V183L;ENSP00000375745:V183L;ENSP00000427806:V6L	ENSP00000339860:V150L	V	+	1	0	PSEN2	225139953	0.998000	0.40836	0.998000	0.56505	0.992000	0.81027	2.679000	0.46909	2.485000	0.83878	0.555000	0.69702	GTG		0.597	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		T	227073330	G	T	227073330	3	4	601	1	0	0	0	0	1	0	0	0	12656	1145	40	4	458	4	PSEN2	1	227073330	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10	71308390	227073330	22177291	8	32958											
CEP68	23177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	65300044	65300044	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr2:65300044C>A	ENST00000377990.2	+	3	2017	c.1814C>A	c.(1813-1815)cCa>cAa	p.P605Q	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.P605Q|CEP68_ENST00000537589.1_Missense_Mutation_p.P217Q|CEP68_ENST00000260569.4_Intron|CEP68_ENST00000497039.1_3'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	605					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.P605Q(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTCTCAGACCCAGATGTTGAA	0.557																																																1	Substitution - Missense(1)	kidney(1)											103	108	106					2																	65300044		1977	4161	6138	SO:0001583	missense	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.1814C>A	2.37:g.65300044C>A	ENSP00000367229:p.Pro605Gln		B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278772	0.23307	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000537589;ENST00000545501	T;T;T	0.27720	2.44;2.43;1.65	5.84	-2.9	0.05648	.	0.869615	0.09978	N	0.731433	T	0.32675	0.0837	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.30146	0.27;0.27;0.27;0.27	B;B;B;B	0.40940	0.213;0.344;0.22;0.344	T	0.47394	-0.9121	10	0.31617	T	0.26	0.5425	8.6867	0.34243	0.0:0.4486:0.1014:0.45	.	593;605;605;605	F5H3N9;F5H2Y2;Q76N32;Q05C09	.;.;CEP68_HUMAN;.	Q	605;605;217;593	ENSP00000367229:P605Q;ENSP00000438306:P605Q;ENSP00000443357:P217Q	ENSP00000367229:P605Q	P	+	2	0	CEP68	65153548	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.351000	0.02622	-0.746000	0.04766	-1.731000	0.00696	CCA		0.557	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		A	65300044	C	A	65300044	3	1	601	1	0	0	0	0	1	0	0	0	3260	594	21	4	1820	4	CEP68	2	65300044	Missense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10		65300044	177899329	9	32959											
ANKRD23	200539	broad.mit.edu	37	2	97505515	97505515	+	Silent	SNP	T	T	C			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr2:97505515T>C	ENST00000318357.4	-	8	812	c.771A>G	c.(769-771)aaA>aaG	p.K257K	ANKRD23_ENST00000418232.1_Silent_p.K257K|ANKRD23_ENST00000331001.2_Silent_p.K215K|ANKRD23_ENST00000476975.1_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	257					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)	p.K257K(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCTTCATGGCTTTGTAGCTGC	0.677																																																1	Substitution - coding silent(1)	kidney(1)											34	31	32					2																	97505515		2203	4300	6503	SO:0001819	synonymous_variant	200539				CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.771A>G	2.37:g.97505515T>C			Q711K7|Q8NAJ7	Silent	SNP	ENST00000318357.4	37	CCDS2027.1																																																																																				0.677	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		C	97505515	T	C	97505515	2	2	601	1	0	0	0	0	0	0	0	1	652	1606	56	3		3	ANKRD23	2	97505515	Silent	SNP	T	TCGA-CZ-5469-01A-01D-1501-10	32205471	97505515	145693858	10	32960											
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	A	rs5030807		TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr3:10183797T>A	ENST00000256474.2	+	1	1106	c.266T>A	c.(265-267)cTc>cAc	p.L89H	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.L89H	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13	16	15					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>A	3.37:g.10183797T>A	ENSP00000256474:p.Leu89His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986585	0.93106	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99576	0.9847	L	0.41492	1.28	0.33129	D	0.542832	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.957	D	0.97755	1.0217	10	0.87932	D	0	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	.	89;89	P40337-2;P40337	.;VHL_HUMAN	H	89	ENSP00000256474:L89H;ENSP00000344757:L89H	ENSP00000256474:L89H	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10183797	T	A	10183797	3	1	601	1	0	0	0	0	1	0	0	0	17167	1551	54	5	268	5	VHL	3	10183797	Missense_Mutation	SNP	T	TCGA-CZ-5469-01A-01D-1501-10		10183797	187838633	11	32961											
CDC25A	993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48215854	48215854	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr3:48215854G>T	ENST00000302506.3	-	9	1258	c.850C>A	c.(850-852)Cca>Aca	p.P284T	CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Missense_Mutation_p.P244T	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	284					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.P284T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTTCCAGGTGGAGACTCCTCT	0.517																																																1	Substitution - Missense(1)	kidney(1)											117	119	118					3																	48215854		2203	4300	6503	SO:0001583	missense	993			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.850C>A	3.37:g.48215854G>T	ENSP00000303706:p.Pro284Thr		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	G	3.290	-0.145096	0.06627	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.19532	2.14;2.14	5.69	2.88	0.33553	.	0.432370	0.27673	N	0.018326	T	0.08133	0.0203	N	0.17082	0.46	0.09310	N	1	B;B	0.16603	0.018;0.013	B;B	0.17433	0.01;0.018	T	0.36648	-0.9739	10	0.02654	T	1	.	2.0648	0.03600	0.169:0.1582:0.5091:0.1637	.	244;284	P30304-2;P30304	.;MPIP1_HUMAN	T	284;244	ENSP00000303706:P284T;ENSP00000343166:P244T	ENSP00000303706:P284T	P	-	1	0	CDC25A	48190858	0.358000	0.24947	0.014000	0.15608	0.632000	0.37999	1.546000	0.36179	0.731000	0.32448	-0.229000	0.12294	CCA		0.517	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		T	48215854	G	T	48215854	3	4	601	1	0	0	0	0	1	0	0	0	3064	1174	41	4	752	4	CDC25A	3	48215854	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10	38032057	48215854	149806576	12	32962											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu	37	3	52441261	52441261	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr3:52441261A>C	ENST00000460680.1	-	7	980	c.509T>G	c.(508-510)tTt>tGt	p.F170C	BAP1_ENST00000296288.5_Missense_Mutation_p.F170C	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F170C(1)|p.E166fs*13(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ATAGCTGACAAAGTGGAACGC	0.582			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Substitution - Missense(1)|Deletion - Frameshift(1)	eye(1)|kidney(1)											83	81	81					3																	52441261		2203	4300	6503	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.509T>G	3.37:g.52441261A>C	ENSP00000417132:p.Phe170Cys		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663751	0.88251	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	T;T;T	0.75477	-0.94;-0.94;-0.94	5.95	5.95	0.96441	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	D	0.91074	0.7191	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93886	0.7175	10	0.87932	D	0	-8.6289	16.4216	0.83760	1.0:0.0:0.0:0.0	.	170	Q92560	BAP1_HUMAN	C	170;170;91	ENSP00000417132:F170C;ENSP00000296288:F170C;ENSP00000417776:F91C	ENSP00000296288:F170C	F	-	2	0	BAP1	52416301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.297000	0.96120	2.285000	0.76669	0.533000	0.62120	TTT		0.582	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			C	52441261	A	C	52441261	3	2	601	1	0	0	0	0	1	0	0	0	1311	14	1	5	1724	5	BAP1	3	52441261	Missense_Mutation	SNP	A	TCGA-CZ-5469-01A-01D-1501-10	4225407	52441261	145581169	13	32963											
PLXND1	23129	broad.mit.edu;ucsc.edu	37	3	129308262	129308262	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr3:129308262C>T	ENST00000324093.4	-	2	1598	c.1420G>A	c.(1420-1422)Gtg>Atg	p.V474M	PLXND1_ENST00000393239.1_Missense_Mutation_p.V474M|RN7SL752P_ENST00000463779.2_RNA	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	474	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.V474M(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCCACGGCCACGGAGGTGAGG	0.662																																					Ovarian(97;366 1484 3738 22084 39045)											1	Substitution - Missense(1)	kidney(1)											34	32	33					3																	129308262		2203	4300	6503	SO:0001583	missense	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1420G>A	3.37:g.129308262C>T	ENSP00000317128:p.Val474Met		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466104	0.84425	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.09255	3.0;3.0;3.0	4.32	4.32	0.51571	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.077302	0.51477	D	0.000098	T	0.34483	0.0899	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.25916	-1.0118	10	0.87932	D	0	.	17.1784	0.86848	0.0:1.0:0.0:0.0	.	474	Q9Y4D7	PLXD1_HUMAN	M	474;474;37	ENSP00000317128:V474M;ENSP00000376931:V474M;ENSP00000426241:V37M	ENSP00000317128:V474M	V	-	1	0	PLXND1	130790952	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	7.022000	0.76431	2.114000	0.64651	0.442000	0.29010	GTG		0.662	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		T	129308262	C	T	129308262	3	4	601	1	0	0	0	0	1	0	0	0	12129	536	19	1	4497	1	PLXND1	3	129308262	Missense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10	76867001	129308262	68714168	14	32964											
DNAJC13	23317	hgsc.bcm.edu;ucsc.edu	37	3	132211264	132211275	+	In_Frame_Del	DEL	GATGATAGAGAA	GATGATAGAGAA	-	rs541274800		TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	GATGATAGAGAA	GATGATAGAGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr3:132211264_132211275delGATGATAGAGAA	ENST00000260818.6	+	33	3878_3889	c.3630_3641delGATGATAGAGAA	c.(3628-3642)ctgatgatagagaag>ctg	p.MIEK1211del		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1211					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GTAGGCGCCTGATGATAGAGAAGATTGCTGCC	0.382																																																0																																										SO:0001651	inframe_deletion	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3630_3641delGATGATAGAGAA	3.37:g.132211264_132211275delGATGATAGAGAA	ENSP00000260818:p.Met1211_Lys1214del		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	In_Frame_Del	DEL	ENST00000260818.6	37	CCDS33857.1																																																																																				0.382	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		-	132211275	GATGATAGAGAA	-	132211264	7	5	601	1	0	1	0	1	0	0	0	0	4634	1277	45	0	3756	0	DNAJC13	3	132211264	In_Frame_Del	DEL	GATGATAGAGAA	TCGA-CZ-5469-01A-01D-1501-10	2903002	132211264	65811166	15	32965											
TXNDC6	347736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	138023808	138023808	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr3:138023808G>C	ENST00000333911.3	-	9	725	c.698C>G	c.(697-699)aCc>aGc	p.T233S	NME9_ENST00000484930.1_Missense_Mutation_p.T170S|NME9_ENST00000383180.2_Missense_Mutation_p.T172S|NME9_ENST00000536478.1_Missense_Mutation_p.T172S|NME9_ENST00000341790.5_Missense_Mutation_p.T170S|NME9_ENST00000317876.4_Missense_Mutation_p.T172S			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	233	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.T172S(1)									CTCAGTCCTGGTGAGGATCAG	0.597																																																1	Substitution - Missense(1)	kidney(1)											189	162	171					3																	138023808		2203	4300	6503	SO:0001583	missense	0			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"thioredoxin domain containing 6", "NME gene family member 9", "NME family member 9"	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.698C>G	3.37:g.138023808G>C	ENSP00000335444:p.Thr233Ser		Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37		.	.	.	.	.	.	.	.	.	.	G	7.638	0.680255	0.14907	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.44	5.44	0.79542	.	0.407398	0.27618	N	0.018571	T	0.35828	0.0945	.	.	.	0.34051	D	0.656179	B;B;B	0.18013	0.015;0.025;0.005	B;B;B	0.27887	0.013;0.084;0.017	T	0.29882	-0.9997	9	0.05959	T	0.93	-8.9524	16.7443	0.85468	0.0:0.0:1.0:0.0	.	170;233;172	Q86XW9-3;Q86XW9;Q86XW9-2	.;TXND6_HUMAN;.	S	172;172;170;170;172;233	ENSP00000372667:T172S;ENSP00000321929:T172S;ENSP00000419882:T170S;ENSP00000341084:T170S;ENSP00000440143:T172S;ENSP00000335444:T233S	ENSP00000321929:T172S	T	-	2	0	TXNDC6	139506498	1.000000	0.71417	0.996000	0.52242	0.278000	0.26855	7.135000	0.77276	2.562000	0.86427	0.591000	0.81541	ACC		0.597	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		C	138023808	G	C	138023808	3	2	601	1	0	0	0	0	1	0	0	0	16805	1261	44	4	288	4	TXNDC6	3	138023808	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10	5812544	138023808	59998622	16	32966											
ZBBX	79740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167000169	167000169	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr3:167000169G>A	ENST00000392766.2	-	19	2334	c.1994C>T	c.(1993-1995)tCa>tTa	p.S665L	ZBBX_ENST00000307529.5_Missense_Mutation_p.S704L|ZBBX_ENST00000392764.1_Missense_Mutation_p.S636L|ZBBX_ENST00000392767.2_Missense_Mutation_p.S665L|ZBBX_ENST00000455345.2_Missense_Mutation_p.S704L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	665	Ser-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S665L(1)|p.S704L(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCTAGATGATGATTGAGCAGC	0.378																																																2	Substitution - Missense(2)	kidney(2)											134	126	129					3																	167000169		1851	4086	5937	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1994C>T	3.37:g.167000169G>A	ENSP00000376519:p.Ser665Leu		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476880	0.26511	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11604	2.93;2.93;2.94;2.94;2.76	5.28	4.39	0.52855	.	0.378131	0.22280	N	0.062133	T	0.10035	0.0246	L	0.46157	1.445	0.09310	N	1	P;P	0.38677	0.642;0.51	B;B	0.34452	0.183;0.089	T	0.16541	-1.0399	10	0.35671	T	0.21	-0.6186	10.8567	0.46802	0.0938:0.0:0.9062:0.0	.	704;665	A8MT70-2;A8MT70	.;ZBBX_HUMAN	L	665;665;704;704;636	ENSP00000376519:S665L;ENSP00000376520:S665L;ENSP00000390232:S704L;ENSP00000305065:S704L;ENSP00000376517:S636L	ENSP00000305065:S704L	S	-	2	0	ZBBX	168482863	0.007000	0.16637	0.002000	0.10522	0.002000	0.02628	1.372000	0.34261	1.192000	0.43071	0.650000	0.86243	TCA		0.378	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		A	167000169	G	A	167000169	3	1	601	1	0	0	0	0	1	0	0	0	17521	1294	45	2	420	2	ZBBX	3	167000169	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10	28976361	167000169	31022261	17	32967											
PCDHA11	56138	broad.mit.edu	37	5	140250599	140250599	+	Silent	SNP	C	C	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr5:140250599C>T	ENST00000398640.2	+	1	1911	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D	PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D637D(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAGGCAGACT	0.662																																																1	Substitution - coding silent(1)	kidney(1)											44	51	48					5																	140250599		2203	4298	6501	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1911C>T	5.37:g.140250599C>T			B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																				0.662	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		T	140250599	C	T	140250599	2	4	601	1	0	0	0	0	0	0	0	1	11523	535	19	1		1	PCDHA11	5	140250599	Silent	SNP	C	TCGA-CZ-5469-01A-01D-1501-10		140250599	40664661	18	32968											
HLA-C	3107	broad.mit.edu	37	6	31237140	31237140	+	Silent	SNP	A	A	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr6:31237140A>T	ENST00000376228.5	-	7	1085	c.1071T>A	c.(1069-1071)tcT>tcA	p.S357S	HLA-C_ENST00000383329.3_Silent_p.S363S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	363					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)	p.S357S(1)|p.S363S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GAGACTCATCAGAGCCCTGGG	0.527																																																2	Substitution - coding silent(2)	kidney(2)											39	47	44					6																	31237140		1511	2709	4220	SO:0001819	synonymous_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.1071T>A	6.37:g.31237140A>T			O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	8.458	0.854611	0.17106	.	.	ENSG00000204525	ENST00000396254	.	.	.	3.33	2.08	0.27032	.	.	.	.	.	T	0.28995	0.0720	.	.	.	0.80722	D	1	D	0.53885	0.963	P	0.59012	0.85	T	0.43261	-0.9402	7	0.02654	T	1	.	6.8252	0.23878	0.7609:0.2391:0.0:0.0	.	356	A2AEA4	.	Q	356	.	ENSP00000379553:L356Q	L	-	2	0	HLA-C	31345119	0.073000	0.21202	0.451000	0.26982	0.218000	0.24690	0.538000	0.23160	0.419000	0.25927	0.248000	0.18094	CTG		0.527	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		T	31237140	A	T	31237140	2	4	601	1	0	0	0	0	0	0	0	1	7199	175	7	5		5	HLA-C	6	31237140	Silent	SNP	A	TCGA-CZ-5469-01A-01D-1501-10		31237140	139877927	19	32969											
RIMS1	22999	broad.mit.edu	37	6	72892128	72892128	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr6:72892128G>T	ENST00000521978.1	+	6	954	c.954G>T	c.(952-954)agG>agT	p.R318S	RIMS1_ENST00000264839.7_Missense_Mutation_p.R318S|RIMS1_ENST00000517960.1_Missense_Mutation_p.R318S|RIMS1_ENST00000491071.2_Missense_Mutation_p.R318S|RIMS1_ENST00000522291.1_Missense_Mutation_p.R318S|RIMS1_ENST00000520567.1_Missense_Mutation_p.R318S|RIMS1_ENST00000518273.1_Missense_Mutation_p.R318S|RIMS1_ENST00000348717.5_Missense_Mutation_p.R318S	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	318					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R318S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAAGCCGAAGGCTTGAGAAAG	0.582																																																1	Substitution - Missense(1)	kidney(1)											36	44	41					6																	72892128		1928	4134	6062	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.954G>T	6.37:g.72892128G>T	ENSP00000428417:p.Arg318Ser		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136945	0.56936	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.16897	2.31;2.45;2.36;2.45;2.44;2.44;2.45;2.35	4.64	3.76	0.43208	.	0.000000	0.64402	D	0.000006	T	0.26666	0.0652	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.02320	-1.1177	10	0.66056	D	0.02	-3.9561	6.9388	0.24481	0.3035:0.0:0.6965:0.0	.	318	Q86UR5	RIMS1_HUMAN	S	318	ENSP00000430101:R318S;ENSP00000275037:R318S;ENSP00000264839:R318S;ENSP00000429959:R318S;ENSP00000430408:R318S;ENSP00000430502:R318S;ENSP00000430932:R318S;ENSP00000428417:R318S	ENSP00000264839:R318S	R	+	3	2	RIMS1	72948849	1.000000	0.71417	0.992000	0.48379	0.761000	0.43186	0.905000	0.28504	2.123000	0.65237	0.462000	0.41574	AGG		0.582	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			T	72892128	G	T	72892128	3	4	601	1	0	0	0	0	1	0	0	0	13373	1194	42	4	976	4	RIMS1	6	72892128	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10	41654988	72892128	98222939	20	32970											
SNAP91	9892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	84302945	84302945	+	Missense_Mutation	SNP	G	G	A	rs370989881		TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr6:84302945G>A	ENST00000439399.2	-	19	2046	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521743.1_Missense_Mutation_p.A577V|SNAP91_ENST00000369694.2_Missense_Mutation_p.A577V|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520302.1_Missense_Mutation_p.A575V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A577V|SNAP91_ENST00000521485.1_Missense_Mutation_p.A577V|SNAP91_ENST00000428679.2_Missense_Mutation_p.A577V	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	577	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.A577V(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGGCTTAGGCGCTGCAGCAAC	0.413																																																2	Substitution - Missense(2)	kidney(2)						G	VAL/ALA,VAL/ALA,,VAL/ALA	0,4052		0,0,2026	54	55	55		1730,1724,,1730	4.7	1	6		55	1,8391		0,1,4195	no	missense,missense,intron,missense	SNAP91	NM_001242792.1,NM_001242793.1,NM_001242794.1,NM_014841.2	64,64,,64	0,1,6221	AA,AG,GG		0.0119,0.0,0.0080	benign,benign,,benign	577/908,575/878,,577/908	84302945	1,12443	2026	4196	6222	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1730C>T	6.37:g.84302945G>A	ENSP00000400459:p.Ala577Val		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	9.134	1.012174	0.19277	0.0	1.19E-4	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000521931	T;T;T;T;T;T;T;T	0.32023	2.44;2.46;2.46;2.44;2.44;2.45;2.46;1.47	5.56	4.69	0.59074	.	0.255397	0.38111	N	0.001801	T	0.11452	0.0279	L	0.31294	0.92	0.80722	D	1	B;P;P	0.45715	0.007;0.865;0.865	B;B;B	0.36808	0.002;0.233;0.217	T	0.03795	-1.1003	10	0.33141	T	0.24	-8.4864	13.8295	0.63370	0.0737:0.0:0.9263:0.0	.	458;575;575	B7Z2N2;E5RI02;E1P549	.;.;.	V	577;577;577;577;577;575;577;390	ENSP00000429776:A577V;ENSP00000358708:A577V;ENSP00000400459:A577V;ENSP00000195649:A577V;ENSP00000412492:A577V;ENSP00000428511:A575V;ENSP00000428215:A577V;ENSP00000430071:A390V	ENSP00000195649:A577V	A	-	2	0	SNAP91	84359664	1.000000	0.71417	0.998000	0.56505	0.138000	0.21146	4.770000	0.62309	2.598000	0.87819	0.655000	0.94253	GCG		0.413	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			A	84302945	G	A	84302945	3	1	601	1	0	0	0	0	1	0	0	0	14839	1087	38	1	1037	1	SNAP91	6	84302945	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10	11410817	84302945	86812122	21	32971											
HIVEP2	3097	broad.mit.edu	37	6	143093080	143093080	+	Silent	SNP	C	C	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr6:143093080C>T	ENST00000367604.1	-	4	3435	c.2796G>A	c.(2794-2796)gcG>gcA	p.A932A	HIVEP2_ENST00000367603.2_Silent_p.A932A|HIVEP2_ENST00000012134.2_Silent_p.A932A			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	932					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A932A(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCAACTTCTCCGCGGGGAGCT	0.562																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											1	Substitution - coding silent(1)	kidney(1)											61	64	63					6																	143093080		1883	4121	6004	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2796G>A	6.37:g.143093080C>T			Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.562	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			T	143093080	C	T	143093080	2	4	601	1	0	0	0	0	0	0	0	1	7189	639	23	1		1	HIVEP2	6	143093080	Silent	SNP	C	TCGA-CZ-5469-01A-01D-1501-10	58790135	143093080	28021987	22	32972											
SRPK2	6733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	104844182	104844182	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr7:104844182G>C	ENST00000393651.3	-	3	209	c.122C>G	c.(121-123)cCa>cGa	p.P41R	SRPK2_ENST00000357311.3_Missense_Mutation_p.P30R|SRPK2_ENST00000489828.1_Missense_Mutation_p.P30R	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.P30R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						tggtggtggtggtggcggtgg	0.552																																																1	Substitution - Missense(1)	kidney(1)											49	44	46					7																	104844182		2203	4300	6503	SO:0001583	missense	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.122C>G	7.37:g.104844182G>C	ENSP00000377262:p.Pro41Arg			Missense_Mutation	SNP	ENST00000393651.3	37	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691053	0.48097	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	D;D;D;T;T	0.87966	-2.32;-2.32;-2.32;0.77;0.77	6.04	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	L	0.27053	0.805	0.58432	D	0.999999	P;B	0.45212	0.853;0.265	P;B	0.46049	0.502;0.229	T	0.82390	-0.0481	10	0.38643	T	0.18	-3.8272	13.5063	0.61485	0.0727:0.0:0.9273:0.0	.	41;30	P78362-2;P78362	.;SRPK2_HUMAN	R	41;30;30;78;30	ENSP00000377262:P41R;ENSP00000349863:P30R;ENSP00000419791:P30R;ENSP00000419240:P78R;ENSP00000417357:P30R	ENSP00000349863:P30R	P	-	2	0	SRPK2	104631418	1.000000	0.71417	0.264000	0.24511	0.681000	0.39784	8.856000	0.92245	1.568000	0.49683	0.561000	0.74099	CCA		0.552	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		C	104844182	G	C	104844182	3	2	601	1	0	0	0	0	1	0	0	0	15165	1348	47	4	2033	4	SRPK2	7	104844182	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10		104844182	54294481	23	32973											
WNT2	7472	broad.mit.edu;ucsc.edu	37	7	116918296	116918296	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr7:116918296G>C	ENST00000265441.3	-	5	1295	c.996C>G	c.(994-996)tgC>tgG	p.C332W		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	332					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.C332W(1)|p.C332C(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGCGCACGGCGCAGCACCAGT	0.602																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)											152	107	122					7																	116918296		2203	4300	6503	SO:0001583	missense	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.996C>G	7.37:g.116918296G>C	ENSP00000265441:p.Cys332Trp		A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882381	0.72294	.	.	ENSG00000105989	ENST00000265441	D	0.83075	-1.68	5.87	-7.46	0.01369	.	0.100184	0.64402	D	0.000001	D	0.93536	0.7937	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93602	0.6931	10	0.87932	D	0	.	18.5226	0.90959	0.3328:0.0:0.6672:0.0	.	332;332	A4D0V1;P09544	.;WNT2_HUMAN	W	332	ENSP00000265441:C332W	ENSP00000265441:C332W	C	-	3	2	WNT2	116705532	0.117000	0.22190	0.894000	0.35097	0.979000	0.70002	-0.371000	0.07513	-1.193000	0.02688	-0.794000	0.03295	TGC		0.602	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		C	116918296	G	C	116918296	3	2	601	1	0	0	0	0	1	0	0	0	17391	1079	38	4	90	4	WNT2	7	116918296	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10	12074114	116918296	42220367	24	32974											
RRS1	23212	broad.mit.edu	37	8	67341565	67341565	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr8:67341565G>C	ENST00000320270.2	+	1	303	c.199G>C	c.(199-201)Gac>Cac	p.D67H	RP11-346I3.4_ENST00000499642.1_lincRNA	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	67					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D67H(1)		kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCTGGCGCGGGACAACACGCA	0.716											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											15	15	15					8																	67341565		2119	4152	6271	SO:0001583	missense	23212			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.199G>C	8.37:g.67341565G>C	ENSP00000322396:p.Asp67His	1098	Q9BUX8	Missense_Mutation	SNP	ENST00000320270.2	37	CCDS6189.1	.	.	.	.	.	.	.	.	.	.	g	29.4	5.006453	0.93287	.	.	ENSG00000179041	ENST00000320270	T	0.27256	1.68	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.60183	0.2249	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66168	-0.5991	10	0.72032	D	0.01	-24.1021	18.5978	0.91235	0.0:0.0:1.0:0.0	.	67	Q15050	RRS1_HUMAN	H	67	ENSP00000322396:D67H	ENSP00000322396:D67H	D	+	1	0	RRS1	67504119	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.127000	0.77210	2.735000	0.93741	0.645000	0.84053	GAC		0.716	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	NM_015169		C	67341565	G	C	67341565	3	2	601	1	0	0	0	0	1	0	0	0	13698	1174	41	4	201	4	RRS1	8	67341565	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10		67341565	79022457	25	32975											
STAU2	27067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	74440017	74440017	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr8:74440017C>A	ENST00000521210.1	-	12	1515	c.1241G>T	c.(1240-1242)aGt>aTt	p.S414I	STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522695.1_Intron|STAU2_ENST00000524300.1_Intron	NM_001164382.1	NP_001157854.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	509	Required for dendritic transport. {ECO:0000250}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.S414I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CTCTTTGCCACTTTGTCTATC	0.443																																																1	Substitution - Missense(1)	kidney(1)											203	157	171					8																	74440017		692	1591	2283	SO:0001583	missense	27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521210.1:c.1241G>T	8.37:g.74440017C>A	ENSP00000429173:p.Ser414Ile		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521210.1	37	CCDS55245.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235070	0.39498	.	.	ENSG00000040341	ENST00000521210;ENST00000523533	T	0.53857	0.6	4.87	2.91	0.33838	.	.	.	.	.	T	0.33673	0.0871	N	0.24115	0.695	0.80722	D	1	B	0.34015	0.435	B	0.30782	0.12	T	0.25882	-1.0119	9	0.72032	D	0.01	.	6.3496	0.21369	0.0:0.6821:0.0:0.3179	.	414	E9PEI3	.	I	414;131	ENSP00000429173:S414I	ENSP00000429173:S414I	S	-	2	0	STAU2	74602571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.452000	0.35156	1.271000	0.44313	0.591000	0.81541	AGT		0.443	STAU2-011	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379002.2	NM_001164380		A	74440017	C	A	74440017	3	1	601	1	0	0	0	0	1	0	0	0	15278	565	20	4	285	4	STAU2	8	74440017	Missense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10	7098452	74440017	71924005	26	32976											
ABCC2	1244	hgsc.bcm.edu;ucsc.edu	37	10	101567974	101568006	+	Splice_Site	DEL	CTCCATGCTCCAGGTAGGTCGGCATTCTCACTG	CTCCATGCTCCAGGTAGGTCGGCATTCTCACTG	-	rs387906395|rs574319283|rs375127462	byFrequency	TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	CTCCATGCTCCAGGTAGGTCGGCATTCTCACTG	CTCCATGCTCCAGGTAGGTCGGCATTCTCACTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr10:101567974_101568006delCTCCATGCTCCAGGTAGGTCGGCATTCTCACTG	ENST00000370449.4	+	13	1916_1928	c.1803_1815delCTCCATGCTCCAGGTAGGTCGGCATTCTCACTG	c.(1801-1815)tcctccatgctccag>tc	p.SSMLQ601del		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	601	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGATGATCTCCTCCATGCTCCAGGTAGGTCGGCATTCTCACTGCTAACTCCCT	0.468																																																0			GRCh37	CS982117	ABCC2	S																																				SO:0001630	splice_region_variant	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1815+1CTCCATGCTCCAGGTAGGTCGGCATTCTCACTG>-	10.37:g.101567974_101568006delCTCCATGCTCCAGGTAGGTCGGCATTCTCACTG			B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Del	DEL	ENST00000370449.4	37	CCDS7484.1																																																																																				0.468	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	In_Frame_Del	-	101568006	CTCCATGCTCCAGGTAGGTCGGCATTCTCACTG	-	101567974	8	5	601	1	0	1	0	1	0	0	1	0	53	668	24	0	1853	0	ABCC2	10	101567974	Splice_Site	DEL	CTCCATGCTCCAGGTAGGTCGGCATTCTCACTG	TCGA-CZ-5469-01A-01D-1501-10		101567974	33966773	27	32977											
NANOG	79923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7947298	7947298	+	Silent	SNP	C	C	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr12:7947298C>T	ENST00000229307.4	+	4	744	c.525C>T	c.(523-525)ccC>ccT	p.P175P	NANOG_ENST00000526286.1_Intron	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	175					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P175P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTACCTACCCCAGCCTTTACT	0.517																																																1	Substitution - coding silent(1)	kidney(1)											52	47	49					12																	7947298		2203	4299	6502	SO:0001819	synonymous_variant	79923			AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.525C>T	12.37:g.7947298C>T			D3DUU4|Q2TTG0|Q6JZS5	Silent	SNP	ENST00000229307.4	37	CCDS31736.1																																																																																				0.517	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		T	7947298	C	T	7947298	2	4	601	1	0	0	0	0	0	0	0	1	10152	581	21	2		2	NANOG	12	7947298	Silent	SNP	C	TCGA-CZ-5469-01A-01D-1501-10		7947298	125904597	28	32978											
KRT73	319101	hgsc.bcm.edu;ucsc.edu	37	12	53011976	53011977	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr12:53011976_53011977insT	ENST00000305748.3	-	1	366_367	c.332_333insA	c.(331-333)aagfs	p.K111fs	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	111	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGGAGGCTCTTGTTGATGGT	0.604																																																0																																										SO:0001589	frameshift_variant	319101			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.333dupA	12.37:g.53011978_53011978dupT	ENSP00000307014:p.Lys111fs		Q32MB2	Frame_Shift_Ins	INS	ENST00000305748.3	37	CCDS8834.1																																																																																				0.604	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		T	53011977	-	T	53011976	7	5	601	1	0	1	1	0	0	0	0	0	8488	912	32	0	1325	0	KRT73	12	53011976	Frame_Shift_Ins	INS	-	TCGA-CZ-5469-01A-01D-1501-10	45064678	53011976	80839919	29	32979											
EIF2B1	1967	broad.mit.edu;hgsc.bcm.edu	37	12	124116921	124116922	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr12:124116921_124116922GT>AA	ENST00000424014.2	-	2	293_294	c.85_86AC>TT	c.(85-87)ACg>TTg	p.T29L	EIF2B1_ENST00000539951.1_Missense_Mutation_p.T16L|GTF2H3_ENST00000228955.7_5'Flank|GTF2H3_ENST00000543341.2_5'Flank|EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000537073.1_Missense_Mutation_p.T29L	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	29					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.T29M(1)|p.T29S(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CTCCAGCAACGTCCGGATGGCA	0.376																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	1967			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.85_86delinsAA	12.37:g.124116921_124116922delinsAA	ENSP00000416250:p.Thr29Leu		A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	37	CCDS31924.1																																																																																				0.376	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		AA	124116922	GT	AA	124116921	3	1	601	1	0	0	0	0	1	0	0	0	5002	1145	40	1	863	1	EIF2B1	12	124116921	Missense_Mutation	DNP	GT	TCGA-CZ-5469-01A-01D-1501-10	71104945	124116921	9734974	30	32980											
OCA2	4948	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	28267703	28267703	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr15:28267703T>G	ENST00000354638.3	-	6	745	c.590A>C	c.(589-591)tAt>tCt	p.Y197S	OCA2_ENST00000353809.5_Missense_Mutation_p.Y197S|OCA2_ENST00000382996.2_Missense_Mutation_p.Y197S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	197					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.Y197S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTGATCCGGATATAGGCTGAA	0.448									Oculocutaneous Albinism																																							1	Substitution - Missense(1)	kidney(1)											95	88	90					15																	28267703		2203	4300	6503	SO:0001583	missense	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.590A>C	15.37:g.28267703T>G	ENSP00000346659:p.Tyr197Ser		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101586	0.37048	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000431101	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	4.74	4.74	0.60224	.	0.067061	0.64402	D	0.000007	T	0.79106	0.4390	L	0.56769	1.78	0.40083	D	0.976165	B;B	0.31125	0.309;0.083	B;B	0.26202	0.067;0.045	T	0.75485	-0.3301	10	0.26408	T	0.33	-15.0076	8.5263	0.33307	0.0:0.0:0.1958:0.8042	.	197;197	Q04671-2;Q04671	.;P_HUMAN	S	197	ENSP00000346659:Y197S;ENSP00000261276:Y197S;ENSP00000372457:Y197S;ENSP00000415431:Y197S	ENSP00000261276:Y197S	Y	-	2	0	OCA2	25941298	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.186000	0.50942	1.991000	0.58162	0.533000	0.62120	TAT		0.448	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		G	28267703	T	G	28267703	3	3	601	1	0	0	0	0	1	0	0	0	10817	1406	49	5	2002	5	OCA2	15	28267703	Missense_Mutation	SNP	T	TCGA-CZ-5469-01A-01D-1501-10		28267703	74263689	31	32981											
AKAP13	11214	broad.mit.edu;ucsc.edu	37	15	86118435	86118435	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr15:86118435C>T	ENST00000394518.2	+	6	831	c.736C>T	c.(736-738)Cat>Tat	p.H246Y	AKAP13_ENST00000361243.2_Missense_Mutation_p.H246Y	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	246					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.H246Y(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTCTGTGAGGCATCATCGAGA	0.433																																					Melanoma(94;603 1453 3280 32295 32951)											1	Substitution - Missense(1)	kidney(1)											160	150	153					15																	86118435		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.736C>T	15.37:g.86118435C>T	ENSP00000378026:p.His246Tyr		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217636	0.79352	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.60548	0.18;0.18	5.2	5.2	0.72013	.	.	.	.	.	T	0.66416	0.2787	L	0.38175	1.15	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.986;0.994	T	0.64706	-0.6344	9	0.46703	T	0.11	.	14.4378	0.67293	0.0:1.0:0.0:0.0	.	246;246	Q12802;Q12802-2	AKP13_HUMAN;.	Y	246;246;245;245	ENSP00000354718:H246Y;ENSP00000378026:H246Y	ENSP00000354718:H246Y	H	+	1	0	AKAP13	83919439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.543000	0.36147	2.854000	0.98071	0.655000	0.94253	CAT		0.433	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		T	86118435	C	T	86118435	3	4	601	1	0	0	0	0	1	0	0	0	449	710	25	2	754	2	AKAP13	15	86118435	Missense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10	57850732	86118435	16412957	32	32982											
FLYWCH1	84256	broad.mit.edu;hgsc.bcm.edu	37	16	2983245	2983245	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr16:2983245G>A	ENST00000253928.9	+	5	1316	c.911G>A	c.(910-912)tGc>tAc	p.C304Y	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.C304Y|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.C303Y			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	304						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C304Y(1)		kidney(1)|lung(3)	4						TATTGGACCTGCCGGGACCAC	0.657																																																1	Substitution - Missense(1)	kidney(1)											22	27	25					16																	2983245		2083	4193	6276	SO:0001583	missense	84256			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.911G>A	16.37:g.2983245G>A	ENSP00000253928:p.Cys304Tyr		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37		.	.	.	.	.	.	.	.	.	.	G	18.40	3.615974	0.66672	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.33	4.33	0.51752	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.81034	0.4739	M	0.88775	2.98	0.35653	D	0.811893	D;D	0.89917	0.997;1.0	D;D	0.87578	0.995;0.998	D	0.87938	0.2715	8	0.87932	D	0	.	12.687	0.56954	0.0:0.0:1.0:0.0	.	304;303	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	Y	304;304;303	.	ENSP00000253928:C304Y	C	+	2	0	FLYWCH1	2923246	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.680000	0.61656	2.139000	0.66308	0.561000	0.74099	TGC		0.657	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		A	2983245	G	A	2983245	3	1	601	1	0	0	0	0	1	0	0	0	5949	1319	46	2	918	2	FLYWCH1	16	2983245	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10		2983245	87371508	33	32983											
OR2C1	4993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3406081	3406081	+	Silent	SNP	G	G	A			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr16:3406081G>A	ENST00000304936.2	+	1	193	c.141G>A	c.(139-141)ttG>ttA	p.L47L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	47					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L47L(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCATCATCTTGCTTTCCCGCC	0.507																																																1	Substitution - coding silent(1)	kidney(1)											151	135	141					16																	3406081		2197	4300	6497	SO:0001819	synonymous_variant	4993			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.141G>A	16.37:g.3406081G>A			A0AVA4|Q6IF34|Q6IF55	Silent	SNP	ENST00000304936.2	37	CCDS10502.1																																																																																				0.507	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			A	3406081	G	A	3406081	2	1	601	1	0	0	0	0	0	0	0	1	10994	1310	46	2		2	OR2C1	16	3406081	Silent	SNP	G	TCGA-CZ-5469-01A-01D-1501-10	422836	3406081	86948672	34	32984											
SCNN1B	6338	broad.mit.edu	37	16	23360188	23360188	+	Missense_Mutation	SNP	A	A	G	rs150466803	byFrequency	TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr16:23360188A>G	ENST00000343070.2	+	2	444	c.268A>G	c.(268-270)Atg>Gtg	p.M90V	SCNN1B_ENST00000568923.1_Missense_Mutation_p.M90V|SCNN1B_ENST00000307331.5_Missense_Mutation_p.M135V|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568085.1_Missense_Mutation_p.M90V	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	90					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.M90V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTTCAAGACCATGGACTTCCC	0.607													A|||	2	0.000399361	0.0	0.0	5008	,	,		15614	0.002		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						A	VAL/MET	1,4393	2.1+/-5.4	0,1,2196	73	64	67		268	4.9	1	16	dbSNP_134	67	0,8600		0,0,4300	no	missense	SCNN1B	NM_000336.2	21	0,1,6496	GG,GA,AA		0.0,0.0228,0.0077	benign	90/641	23360188	1,12993	2197	4300	6497	SO:0001583	missense	6338			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.268A>G	16.37:g.23360188A>G	ENSP00000345751:p.Met90Val		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744373	0.49151	2.28E-4	0.0	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.62941	-0.01;-0.01	4.92	4.92	0.64577	.	0.118152	0.64402	D	0.000020	T	0.65749	0.2721	M	0.75447	2.3	0.45216	D	0.998226	B	0.24317	0.101	B	0.31946	0.138	T	0.67329	-0.5698	10	0.59425	D	0.04	-20.4874	13.7288	0.62774	1.0:0.0:0.0:0.0	.	90	P51168	SCNNB_HUMAN	V	90;135	ENSP00000345751:M90V;ENSP00000302874:M135V	ENSP00000302874:M135V	M	+	1	0	SCNN1B	23267689	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	6.613000	0.74192	1.834000	0.53371	0.459000	0.35465	ATG		0.607	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			G	23360188	A	G	23360188	3	3	601	1	0	0	0	0	1	0	0	0	13934	217	8	3	270	3	SCNN1B	16	23360188	Missense_Mutation	SNP	A	TCGA-CZ-5469-01A-01D-1501-10	19954107	23360188	66994565	35	32985											
KIAA0513	9764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	85120766	85120766	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr16:85120766G>C	ENST00000566428.1	+	12	1811	c.1180G>C	c.(1180-1182)Gat>Cat	p.D394H	KIAA0513_ENST00000258180.3_Missense_Mutation_p.D394H|KIAA0513_ENST00000538274.1_Missense_Mutation_p.D384H			O60268	K0513_HUMAN	KIAA0513	394						cytoplasm (GO:0005737)		p.D394H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGGCAACCTGGATGAAGGTGC	0.597											OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											84	76	79					16																	85120766		2198	4300	6498	SO:0001583	missense	9764			AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.1180G>C	16.37:g.85120766G>C	ENSP00000457408:p.Asp394His	1234	B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277009	0.59758	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.46819	0.87;0.86	4.97	4.97	0.65823	.	0.155105	0.56097	D	0.000029	T	0.41581	0.1165	L	0.36672	1.1	0.42061	D	0.991161	B;B	0.22851	0.063;0.076	B;B	0.19666	0.026;0.024	T	0.36744	-0.9735	10	0.59425	D	0.04	-12.2777	16.7973	0.85605	0.0:0.0:1.0:0.0	.	384;394	B4DSS5;O60268	.;K0513_HUMAN	H	384;394	ENSP00000446439:D384H;ENSP00000258180:D394H	ENSP00000258180:D394H	D	+	1	0	KIAA0513	83678267	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	4.351000	0.59398	2.289000	0.77006	0.462000	0.41574	GAT		0.597	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		C	85120766	G	C	85120766	3	2	601	1	0	0	0	0	1	0	0	0	8183	1174	41	4	1222	4	KIAA0513	16	85120766	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10	61760578	85120766	5233987	36	32986											
SEZ6	124925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27286442	27286442	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr17:27286442G>A	ENST00000317338.12	-	9	2248	c.1820C>T	c.(1819-1821)cCc>cTc	p.P607L	SEZ6_ENST00000442608.3_Missense_Mutation_p.P607L|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.P607L|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	607	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.P607L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TGGCCAGTTGGGAGAGAGTAC	0.587																																																1	Substitution - Missense(1)	kidney(1)											67	75	72					17																	27286442		2103	4238	6341	SO:0001583	missense	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1820C>T	17.37:g.27286442G>A	ENSP00000312942:p.Pro607Leu		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653815	0.67472	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T;T	0.58210	0.35;0.35;1.63	5.21	4.24	0.50183	CUB (5);	0.062824	0.64402	N	0.000005	T	0.76471	0.3992	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81553	-0.0880	10	0.87932	D	0	.	12.0642	0.53578	0.0849:0.0:0.9151:0.0	.	607;607	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	L	607;607;482;607	ENSP00000403784:P607L;ENSP00000353440:P607L;ENSP00000312942:P482L	ENSP00000312942:P482L	P	-	2	0	SEZ6	24310568	1.000000	0.71417	0.996000	0.52242	0.408000	0.30992	9.854000	0.99522	1.344000	0.45657	0.650000	0.86243	CCC		0.587	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			A	27286442	G	A	27286442	3	1	601	1	0	0	0	0	1	0	0	0	14148	1232	43	2	1213	2	SEZ6	17	27286442	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10		27286442	53908768	37	32987											
CASKIN2	57513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73500959	73500959	+	Missense_Mutation	SNP	C	C	T	rs370315404		TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr17:73500959C>T	ENST00000321617.3	-	11	1712	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E294K	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	376						cytoplasm (GO:0005737)		p.E376K(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGTTCTTCGGCAGGAGGC	0.701													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13526	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	LYS/GLU,LYS/GLU	0,4404		0,0,2202	31	31	31		880,1126	5.3	0	17		31	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CASKIN2	NM_001142643.1,NM_020753.3	56,56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	294/1121,376/1203	73500959	1,13003	2202	4300	6502	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1126G>A	17.37:g.73500959C>T	ENSP00000325355:p.Glu376Lys		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264876	0.23136	0.0	1.16E-4	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.68903	-0.36;-0.18	5.33	5.33	0.75918	.	0.428744	0.16942	N	0.193247	T	0.43831	0.1265	N	0.08118	0	0.31800	N	0.628559	B	0.06786	0.001	B	0.01281	0.0	T	0.45381	-0.9265	10	0.32370	T	0.25	.	8.3136	0.32086	0.0:0.8319:0.0:0.1681	.	376	Q8WXE0	CSKI2_HUMAN	K	376;294	ENSP00000325355:E376K;ENSP00000406963:E294K	ENSP00000325355:E376K	E	-	1	0	CASKIN2	71012554	0.000000	0.05858	0.047000	0.18901	0.304000	0.27724	0.243000	0.18106	2.498000	0.84270	0.561000	0.74099	GAA		0.701	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		T	73500959	C	T	73500959	3	4	601	1	0	0	0	0	1	0	0	0	2669	893	31	1	2522	1	CASKIN2	17	73500959	Missense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10	46214517	73500959	7694251	38	32988											
POLI	11201	broad.mit.edu;ucsc.edu	37	18	51809261	51809261	+	Missense_Mutation	SNP	G	G	A	rs201346546	byFrequency	TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr18:51809261G>A	ENST00000579534.1	+	6	994	c.851G>A	c.(850-852)cGt>cAt	p.R284H	POLI_ENST00000579434.1_Missense_Mutation_p.R181H|POLI_ENST00000406285.3_Missense_Mutation_p.R205H|POLI_ENST00000217800.5_Missense_Mutation_p.R158H	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	284					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R284H(1)|p.R259H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AATAGTGTGCGTGATCTCCAA	0.358								DNA polymerases (catalytic subunits)																																								2	Substitution - Missense(2)	kidney(2)						G	HIS/ARG	0,4404		0,0,2202	54	51	52		851	-4	0.7	18		52	1,8595		0,1,4297	no	missense	POLI	NM_007195.2	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	284/741	51809261	1,12999	2202	4298	6500	SO:0001583	missense	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.851G>A	18.37:g.51809261G>A	ENSP00000462664:p.Arg284His		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102433	0.37145	0.0	1.16E-4	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.22336	1.96	5.96	-3.99	0.04069	.	0.814674	0.11962	N	0.512670	T	0.12944	0.0314	N	0.25094	0.71	0.23277	N	0.997996	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.001	T	0.25398	-1.0133	10	0.18710	T	0.47	-0.4679	16.0002	0.80288	0.3638:0.0:0.6362:0.0	.	204;284	B7Z780;Q9UNA4	.;POLI_HUMAN	H	205;284	ENSP00000385196:R205H	ENSP00000217800:R284H	R	+	2	0	POLI	50063259	0.016000	0.18221	0.697000	0.30258	0.933000	0.57130	-0.107000	0.10873	-1.003000	0.03425	-0.294000	0.09567	CGT		0.358	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		A	51809261	G	A	51809261	3	1	601	1	0	0	0	0	1	0	0	0	12205	1145	40	1	873	1	POLI	18	51809261	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10		51809261	26267987	39	32989											
OR10H5	284433	broad.mit.edu	37	19	15905371	15905371	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr19:15905371C>A	ENST00000308940.8	+	1	611	c.513C>A	c.(511-513)caC>caA	p.H171Q		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H171Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCTGTGGACACAAGGAGATCC	0.607																																																1	Substitution - Missense(1)	kidney(1)											146	118	128					19																	15905371		2203	4300	6503	SO:0001583	missense	284433			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.513C>A	19.37:g.15905371C>A	ENSP00000310704:p.His171Gln		Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	1.154	-0.645761	0.03531	.	.	ENSG00000172519	ENST00000308940	T	0.36878	1.23	3.36	-1.86	0.07760	GPCR, rhodopsin-like superfamily (1);	0.134657	0.34156	N	0.004204	T	0.19005	0.0456	N	0.21142	0.635	0.09310	N	1	B	0.12013	0.005	B	0.22601	0.04	T	0.09930	-1.0652	10	0.37606	T	0.19	.	5.4623	0.16624	0.1557:0.5871:0.0:0.2571	.	171	Q8NGA6	O10H5_HUMAN	Q	171	ENSP00000310704:H171Q	ENSP00000310704:H171Q	H	+	3	2	OR10H5	15766371	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.296000	0.01142	-0.467000	0.06932	0.585000	0.79938	CAC		0.607	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			A	15905371	C	A	15905371	3	1	601	1	0	0	0	0	1	0	0	0	10911	477	17	4	515	4	OR10H5	19	15905371	Missense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10		15905371	43223612	40	32990											
MYH14	79784	broad.mit.edu	37	19	50733855	50733855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr19:50733855delG	ENST00000596571.1	+	7	924	c.924delG	c.(922-924)ctgfs	p.L308fs	MYH14_ENST00000262269.8_Frame_Shift_Del_p.L316fs|MYH14_ENST00000440075.2_Frame_Shift_Del_p.L316fs|MYH14_ENST00000425460.1_Frame_Shift_Del_p.L316fs|MYH14_ENST00000376970.2_Frame_Shift_Del_p.L308fs|MYH14_ENST00000601313.1_Frame_Shift_Del_p.L316fs|MYH14_ENST00000598205.1_Frame_Shift_Del_p.L316fs			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	308	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACCAGCTGCTGGGGGGCGCTG	0.657																																																0													14	17	16					19																	50733855		2085	4200	6285	SO:0001589	frameshift_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.924delG	19.37:g.50733855delG	ENSP00000472819:p.Leu308fs		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Frame_Shift_Del	DEL	ENST00000596571.1	37	CCDS59411.1																																																																																				0.657	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		-	50733855	G	-	50733855	7	5	601	1	0	1	0	1	0	0	0	0	10035	1335	47	0	978	0	MYH14	19	50733855	Frame_Shift_Del	DEL	G	TCGA-CZ-5469-01A-01D-1501-10	34828484	50733855	8395128	41	32991											
ZNF649	65251	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52394722	52394722	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr19:52394722C>T	ENST00000354957.3	-	5	951	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E223K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTCTCGTGTTCAGTGAGCCTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											118	114	115					19																	52394722		2203	4300	6503	SO:0001583	missense	65251			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.667G>A	19.37:g.52394722C>T	ENSP00000347043:p.Glu223Lys		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	3.144	-0.175764	0.06421	.	.	ENSG00000198093	ENST00000354957	T	0.16073	2.37	2.23	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04318	0.0119	N	0.04063	-0.285	0.09310	N	1	P	0.37663	0.604	B	0.29353	0.101	T	0.20405	-1.0276	9	0.06494	T	0.89	.	3.1343	0.06434	0.0:0.4709:0.236:0.2931	.	223	Q9BS31	ZN649_HUMAN	K	223	ENSP00000347043:E223K	ENSP00000347043:E223K	E	-	1	0	ZNF649	57086534	0.000000	0.05858	0.127000	0.21898	0.007000	0.05969	-1.342000	0.02645	1.077000	0.40990	0.398000	0.26397	GAA		0.498	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		T	52394722	C	T	52394722	3	4	601	1	0	0	0	0	1	0	0	0	18069	835	29	2	854	2	ZNF649	19	52394722	Missense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10	1660867	52394722	6734261	42	32992											
PREX1	57580	broad.mit.edu;hgsc.bcm.edu	37	20	47244458	47244458	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr20:47244458G>A	ENST00000371941.3	-	38	4832	c.4810C>T	c.(4810-4812)Cgg>Tgg	p.R1604W	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1604					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1604W(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCGTGGCTCCGTGCCAAGATG	0.692																																																1	Substitution - Missense(1)	kidney(1)											48	36	40					20																	47244458		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4810C>T	20.37:g.47244458G>A	ENSP00000361009:p.Arg1604Trp		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.130666	0.77549	.	.	ENSG00000124126	ENST00000371941	T	0.65178	-0.14	4.31	4.31	0.51392	.	0.000000	0.48767	U	0.000173	T	0.78991	0.4371	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82860	-0.0248	10	0.87932	D	0	.	16.7877	0.85578	0.0:0.0:1.0:0.0	.	1604;901	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	W	1604	ENSP00000361009:R1604W	ENSP00000361009:R1604W	R	-	1	2	PREX1	46677865	1.000000	0.71417	0.960000	0.40013	0.889000	0.51656	3.431000	0.52814	1.949000	0.56562	0.457000	0.33378	CGG		0.692	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		A	47244458	G	A	47244458	3	1	601	1	0	0	0	0	1	0	0	0	12481	1144	40	1	181	1	PREX1	20	47244458	Missense_Mutation	SNP	G	TCGA-CZ-5469-01A-01D-1501-10		47244458	15781062	43	32993											
KRTAP15-1	254950	broad.mit.edu;hgsc.bcm.edu	37	21	31812784	31812784	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr21:31812784C>A	ENST00000334067.3	+	1	188	c.139C>A	c.(139-141)Ctc>Atc	p.L47I		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	47						intermediate filament (GO:0005882)		p.L47I(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						GGGCTCCTCTCTCTACAATGG	0.483																																																1	Substitution - Missense(1)	kidney(1)											87	86	87					21																	31812784		2203	4300	6503	SO:0001583	missense	254950			AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"Keratin associated proteins"	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.139C>A	21.37:g.31812784C>A	ENSP00000334866:p.Leu47Ile		Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071667	0.55646	.	.	ENSG00000186970	ENST00000334067	T	0.04015	3.73	4.79	-2.76	0.05896	.	1.818090	0.02934	N	0.139540	T	0.07413	0.0187	M	0.74467	2.265	0.09310	N	1	B	0.29955	0.263	B	0.30105	0.111	T	0.38908	-0.9639	10	0.66056	D	0.02	-1.0964	1.7247	0.02919	0.1696:0.2136:0.4014:0.2154	.	47	Q3LI76	KR151_HUMAN	I	47	ENSP00000334866:L47I	ENSP00000334866:L47I	L	+	1	0	KRTAP15-1	30734655	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-1.398000	0.02509	-0.489000	0.06716	0.655000	0.94253	CTC		0.483	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			A	31812784	C	A	31812784	3	1	601	1	0	0	0	0	1	0	0	0	8528	913	32	4	141	4	KRTAP15-1	21	31812784	Missense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10		31812784	16317111	44	32994											
MED15	51586	broad.mit.edu;ucsc.edu	37	22	20929497	20929497	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr22:20929497T>C	ENST00000263205.7	+	9	1319	c.1250T>C	c.(1249-1251)tTg>tCg	p.L417S	MED15_ENST00000382974.2_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000478831.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	417	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L417S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCCATCCCTTTGGGCAGACAG	0.627																																																1	Substitution - Missense(1)	kidney(1)											74	64	67					22																	20929497		2203	4300	6503	SO:0001583	missense	51586			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1250T>C	22.37:g.20929497T>C	ENSP00000263205:p.Leu417Ser		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165401	0.57476	.	.	ENSG00000099917	ENST00000263205;ENST00000542312	.	.	.	5.19	4.09	0.47781	Mediator complex, subunit Med15, metazoa (1);	1.044730	0.07453	N	0.899362	T	0.44414	0.1292	L	0.36672	1.1	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.003;0.006	T	0.18147	-1.0346	9	0.06365	T	0.9	.	8.0673	0.30667	0.0:0.1124:0.0:0.8876	.	363;417	B4DGD6;Q96RN5	.;MED15_HUMAN	S	417;363	.	ENSP00000263205:L417S	L	+	2	0	MED15	19259497	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	2.010000	0.40913	0.741000	0.32674	0.482000	0.46254	TTG		0.627	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		C	20929497	T	C	20929497	3	2	601	1	0	0	0	0	1	0	0	0	9435	1821	63	3	1284	3	MED15	22	20929497	Missense_Mutation	SNP	T	TCGA-CZ-5469-01A-01D-1501-10		20929497	30375069	45	32995											
CENPM	79019	broad.mit.edu	37	22	42335169	42335169	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chr22:42335169C>A	ENST00000215980.5	-	6	521	c.434G>T	c.(433-435)cGc>cTc	p.R145L	CENPM_ENST00000404067.1_3'UTR|CENPM_ENST00000407253.3_3'UTR|CENPM_ENST00000472374.2_Missense_Mutation_p.R23L|CENPM_ENST00000402338.1_Missense_Mutation_p.R111L	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	145					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)		p.R145L(1)		kidney(1)|large_intestine(1)|prostate(1)	3						GCGCACCAGGCGCTGCGCCAT	0.637																																																1	Substitution - Missense(1)	kidney(1)											26	24	25					22																	42335169		2197	4299	6496	SO:0001583	missense	79019			BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"chromosome 22 open reading frame 18"	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.434G>T	22.37:g.42335169C>A	ENSP00000215980:p.Arg145Leu		A7LM22|B1AHQ9|Q6I9W3	Missense_Mutation	SNP	ENST00000215980.5	37	CCDS14025.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348909	0.82132	.	.	ENSG00000100162	ENST00000215980;ENST00000472374;ENST00000402338	.	.	.	4.39	4.39	0.52855	.	0.049774	0.85682	D	0.000000	T	0.77336	0.4115	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.80390	-0.1402	9	0.87932	D	0	-21.6423	12.8477	0.57839	0.0:1.0:0.0:0.0	.	23;145	Q9NSP4-3;Q9NSP4	.;CENPM_HUMAN	L	145;23;111	.	ENSP00000215980:R145L	R	-	2	0	CENPM	40665115	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.101000	0.57769	2.180000	0.69256	0.561000	0.74099	CGC		0.637	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053		A	42335169	C	A	42335169	3	1	601	1	0	0	0	0	1	0	0	0	3239	768	27	4	112	4	CENPM	22	42335169	Missense_Mutation	SNP	C	TCGA-CZ-5469-01A-01D-1501-10	21405672	42335169	8969397	46	32996											
MED12	9968	broad.mit.edu	37	X	70360569	70360569	+	Silent	SNP	T	T	C			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chrX:70360569T>C	ENST00000374080.3	+	42	6161	c.6129T>C	c.(6127-6129)cgT>cgC	p.R2043R	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000333646.6_Silent_p.R2046R|MED12_ENST00000374102.1_Silent_p.R2042R			Q93074	MED12_HUMAN	mediator complex subunit 12	2043	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R2043R(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGGCGTCCGTTCAACAGCCA	0.562			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	2	Substitution - coding silent(2)	kidney(2)											80	81	80					X																	70360569		2197	4291	6488	SO:0001819	synonymous_variant	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6129T>C	X.37:g.70360569T>C			O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	C	0.914	-0.717961	0.03182	.	.	ENSG00000184634	ENST00000444034	.	.	.	4.69	-1.6	0.08426	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	-13.5124	1.3607	0.02191	0.2298:0.3023:0.2888:0.179	.	.	.	.	A	239	.	.	V	+	2	0	MED12	70277294	0.494000	0.26043	0.155000	0.22561	0.062000	0.15995	-0.135000	0.10420	-1.027000	0.03325	-0.416000	0.06073	GTT		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		C	70360569	T	C	70360569	2	2	601	1	0	0	0	0	0	0	0	1	9430	1712	60	3		3	MED12	23	70360569	Silent	SNP	T	TCGA-CZ-5469-01A-01D-1501-10		70360569	84909991	47	32997											
NHSL2	340527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	71358471	71358471	+	5'UTR	SNP	C	C	T			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chrX:71358471C>T	ENST00000373677.1	+	0	1237				NHSL2_ENST00000510661.1_Missense_Mutation_p.A127V|NHSL2_ENST00000540800.1_Missense_Mutation_p.A358V|NHSL2_ENST00000535692.1_5'UTR			Q5HYW2	NHSL2_HUMAN	NHS-like 2									p.A358V(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCTCACCAGGCACGGAGTGGC	0.552																																																1	Substitution - Missense(1)	kidney(1)											71	57	62					X																	71358471		2175	4237	6412	SO:0001623	5_prime_UTR_variant	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.-26C>T	X.37:g.71358471C>T			B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	C	0.239	-1.014956	0.02078	.	.	ENSG00000204131	ENST00000540800;ENST00000510661	T;T	0.43688	1.59;0.94	5.87	0.599	0.17519	.	.	.	.	.	T	0.21801	0.0525	N	0.22421	0.69	0.09310	N	0.999995	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.22277	-1.0221	8	.	.	.	.	1.067	0.01613	0.1655:0.4114:0.1346:0.2885	.	358;127	F5H593;D6RBM4	.;.	V	358;127	ENSP00000444617:A358V;ENSP00000424079:A127V	.	A	+	2	0	NHSL2	71275196	0.234000	0.23783	0.005000	0.12908	0.013000	0.08279	0.518000	0.22847	-0.355000	0.08199	-0.332000	0.08345	GCA		0.552	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		T	71358471	C	T	71358471	1	4	601	0	1	0	0	0	0	0	0	0	10414	710	25	2		2	NHSL2	23	71358471	5'UTR	SNP	C	TCGA-CZ-5469-01A-01D-1501-10	997902	71358471	83912089	48	32998											
KIAA2022	340533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	73963362	73963362	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5469-01A-01D-1501-10	TCGA-CZ-5469-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3df654a0-48b0-45ff-bfe1-b5f78f63b30d	774be195-fc56-42e0-ad6f-260df24d5f23	g.chrX:73963362T>C	ENST00000055682.6	-	3	1641	c.1030A>G	c.(1030-1032)Acc>Gcc	p.T344A		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	344					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.T344A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGGGGCAGGTAGTAAAGACG	0.468																																																1	Substitution - Missense(1)	kidney(1)											59	52	54					X																	73963362		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1030A>G	X.37:g.73963362T>C	ENSP00000055682:p.Thr344Ala		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	9.920	1.212038	0.22289	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.30182	1.54;1.54	5.83	3.48	0.39840	.	0.204009	0.49916	D	0.000124	T	0.19446	0.0467	N	0.22421	0.69	0.24537	N	0.994081	B	0.06786	0.001	B	0.04013	0.001	T	0.16453	-1.0402	10	0.56958	D	0.05	-10.2644	8.2189	0.31530	0.0:0.225:0.0:0.775	.	344	Q5QGS0	K2022_HUMAN	A	344	ENSP00000362567:T344A;ENSP00000055682:T344A	ENSP00000055682:T344A	T	-	1	0	KIAA2022	73880087	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.856000	0.62932	0.825000	0.34637	-0.323000	0.08544	ACC		0.468	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		C	73963362	T	C	73963362	3	2	601	1	0	0	0	0	1	0	0	0	8271	1638	57	3	3528	3	KIAA2022	23	73963362	Missense_Mutation	SNP	T	TCGA-CZ-5469-01A-01D-1501-10	2604891	73963362	81307198	49	32999											
MEGF6	1953	broad.mit.edu	37	1	3519151	3519152	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr1:3519151_3519152delCA	ENST00000356575.4	-	2	370_371	c.144_145delTG	c.(142-147)tgtgctfs	p.A49fs		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	49	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCCTGCTCAGCACACACGTGGG	0.708																																					Ovarian(73;978 3658)											0																																										SO:0001589	frameshift_variant	1953			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.144_145delTG	1.37:g.3519155_3519156delCA	ENSP00000348982:p.Ala49fs		Q4AC86|Q5VV39	Frame_Shift_Del	DEL	ENST00000356575.4	37	CCDS41237.1																																																																																				0.708	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		-	3519152	CA	-	3519151	7	5	602	1	0	1	0	1	0	0	0	0	9464	710	25	0	4624	0	MEGF6	1	3519151	Frame_Shift_Del	DEL	CA	TCGA-CZ-5470-01A-01D-1501-10		3519151	245731470	1	33000											
DAB1	1600	broad.mit.edu	37	1	57481090	57481090	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr1:57481090C>T	ENST00000371231.1	-	13	1043	c.1009G>A	c.(1009-1011)Ggc>Agc	p.G337S	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.G302S|DAB1_ENST00000414851.2_Missense_Mutation_p.G286S|DAB1_ENST00000371234.4_Missense_Mutation_p.G304S|DAB1_ENST00000371236.2_Missense_Mutation_p.G304S|DAB1_ENST00000439789.2_Missense_Mutation_p.G218S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	337					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.G304S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AGGACAGCGCCCATTGCAACG	0.567																																																1	Substitution - Missense(1)	kidney(1)											23	26	25					1																	57481090		2199	4288	6487	SO:0001583	missense	1600			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1009G>A	1.37:g.57481090C>T	ENSP00000360275:p.Gly337Ser		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37		.	.	.	.	.	.	.	.	.	.	C	27.5	4.841514	0.91197	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232	T;T;T;T;T;T;T	0.74632	0.58;0.58;0.53;0.64;1.14;0.44;-0.86	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.84986	0.5594	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.998;0.999;1.0	D	0.84989	0.0893	10	0.66056	D	0.02	-41.0347	19.6787	0.95950	0.0:1.0:0.0:0.0	.	286;337;304;218;302	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	S	304;304;304;302;286;218;337;218	ENSP00000360280:G304S;ENSP00000360278:G304S;ENSP00000395296:G302S;ENSP00000387581:G286S;ENSP00000409328:G218S;ENSP00000360275:G337S;ENSP00000360276:G218S	ENSP00000360275:G337S	G	-	1	0	DAB1	57253678	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.320000	0.79064	2.890000	0.99128	0.650000	0.86243	GGC		0.567	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		T	57481090	C	T	57481090	3	4	602	1	0	0	0	0	1	0	0	0	4219	623	22	2	769	2	DAB1	1	57481090	Missense_Mutation	SNP	C	TCGA-CZ-5470-01A-01D-1501-10	53961939	57481090	191769531	2	33001											
JUN	3725	broad.mit.edu;hgsc.bcm.edu	37	1	59248705	59248705	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr1:59248705G>T	ENST00000371222.2	-	1	1080	c.38C>A	c.(37-39)gCc>gAc	p.A13D	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	13					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A13D(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	GGCGTTGAGGGCATCGTCATA	0.557			A		sarcoma																																		Dom	yes		1	1p32-p31	3725	jun oncogene		M	1	Substitution - Missense(1)	kidney(1)											102	110	107					1																	59248705		2203	4300	6503	SO:0001583	missense	3725			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.38C>A	1.37:g.59248705G>T	ENSP00000360266:p.Ala13Asp		Q6FHM7|Q96G93	Missense_Mutation	SNP	ENST00000371222.2	37	CCDS610.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854552	0.71719	.	.	ENSG00000177606	ENST00000371222	T	0.35048	1.33	4.39	4.39	0.52855	Jun-like transcription factor (1);	0.080529	0.48286	U	0.000196	T	0.27278	0.0669	N	0.16567	0.415	0.58432	D	0.999999	P	0.43231	0.801	B	0.40741	0.339	T	0.12451	-1.0547	10	0.46703	T	0.11	-0.5303	17.1679	0.86821	0.0:0.0:1.0:0.0	.	13	P05412	JUN_HUMAN	D	13	ENSP00000360266:A13D	ENSP00000360266:A13D	A	-	2	0	JUN	59021293	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.160000	0.94734	2.255000	0.74692	0.561000	0.74099	GCC		0.557	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		T	59248705	G	T	59248705	3	4	602	1	0	0	0	0	1	0	0	0	7971	1203	42	4	961	4	JUN	1	59248705	Missense_Mutation	SNP	G	TCGA-CZ-5470-01A-01D-1501-10	1767615	59248705	190001916	3	33002											
MTMR11	10903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	149908474	149908474	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr1:149908474C>T	ENST00000439741.2	-	1	317		c.e1+1		MTMR11_ENST00000492824.1_Splice_Site|MTMR11_ENST00000406732.3_Splice_Site|MTMR11_ENST00000369140.3_5'Flank|MTMR11_ENST00000361405.6_Splice_Site	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11								phosphatase activity (GO:0016791)	p.?(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			cttctccttacccccatctct	0.592																																																1	Unknown(1)	kidney(1)											118	112	114					1																	149908474		692	1591	2283	SO:0001630	splice_region_variant	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.66+1G>A	1.37:g.149908474C>T			B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Splice_Site	SNP	ENST00000439741.2	37	CCDS53360.1																																																																																				0.592	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873	Intron	T	149908474	C	T	149908474	5	4	602	1	0	0	0	0	0	0	1	0	9942	521	18	2	2169	2	MTMR11	1	149908474	Splice_Site	SNP	C	TCGA-CZ-5470-01A-01D-1501-10	90659769	149908474	99342147	4	33003											
USF1	7391	hgsc.bcm.edu;ucsc.edu	37	1	161011524	161011524	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr1:161011524delC	ENST00000368021.3	-	6	593	c.389delG	c.(388-390)ggtfs	p.G130fs	USF1_ENST00000368020.1_Frame_Shift_Del_p.G130fs|F11R_ENST00000289779.3_5'Flank|TSTD1_ENST00000368023.3_5'Flank|TSTD1_ENST00000368024.1_5'Flank|TSTD1_ENST00000423014.2_5'Flank|USF1_ENST00000435396.1_Frame_Shift_Del_p.G71fs|TSTD1_ENST00000318289.10_5'Flank|USF1_ENST00000368019.1_Splice_Site	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	130					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.G130fs*33(1)		central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGATGTGGTACCCCCTGCCCC	0.592											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - Frameshift(1)	large_intestine(1)											87	82	84					1																	161011524		2203	4300	6503	SO:0001589	frameshift_variant	7391			BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"Basic helix-loop-helix proteins"	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.389delG	1.37:g.161011524delC	ENSP00000357000:p.Gly130fs	1813	B2RBZ4|Q5SY46|Q7Z5Y1	Frame_Shift_Del	DEL	ENST00000368021.3	37	CCDS1214.1																																																																																				0.592	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		-	161011524	C	-	161011524	7	5	602	1	0	1	0	1	0	0	0	0	17037	507	18	0	567	0	USF1	1	161011524	Frame_Shift_Del	DEL	C	TCGA-CZ-5470-01A-01D-1501-10	11103050	161011524	88239097	5	33004											
KCNT2	343450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	196254849	196254849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr1:196254849G>A	ENST00000294725.9	-	23	3550	c.2635C>T	c.(2635-2637)Cga>Tga	p.R879*	KCNT2_ENST00000609185.1_Nonsense_Mutation_p.R805*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R805*|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.R855*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	879					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R879*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAGGCAGTCGAAACATAAAG	0.383																																																1	Substitution - Nonsense(1)	kidney(1)											83	81	82					1																	196254849		2203	4300	6503	SO:0001587	stop_gained	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2635C>T	1.37:g.196254849G>A	ENSP00000294725:p.Arg879*		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	40	8.396762	0.98794	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	5.57	5.57	0.84162	.	0.000000	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3986	13.6193	0.62128	0.0:0.0:0.8447:0.1553	.	.	.	.	X	855;805;879	.	ENSP00000294725:R879X	R	-	1	2	KCNT2	194521472	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	9.099000	0.94207	2.779000	0.95612	0.591000	0.81541	CGA		0.383	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		A	196254849	G	A	196254849	4	1	602	1	0	0	0	0	0	1	0	0	8094	1066	37	1	796	1	KCNT2	1	196254849	Nonsense_Mutation	SNP	G	TCGA-CZ-5470-01A-01D-1501-10	35243325	196254849	52995772	6	33005											
KIF14	9928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200555334	200555334	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr1:200555334G>C	ENST00000367350.4	-	19	3574	c.3136C>G	c.(3136-3138)Cgc>Ggc	p.R1046G		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1046	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|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)|PDZ domain binding (GO:0030165)	p.R1046G(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTGCATGGCGGATGCTATGG	0.353																																																1	Substitution - Missense(1)	kidney(1)											118	122	120					1																	200555334		2203	4298	6501	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3136C>G	1.37:g.200555334G>C	ENSP00000356319:p.Arg1046Gly		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114410	0.77210	.	.	ENSG00000118193	ENST00000367350	T	0.18174	2.23	4.97	4.97	0.65823	.	0.130103	0.51477	D	0.000081	T	0.40322	0.1112	M	0.72894	2.215	0.52501	D	0.999958	D	0.71674	0.998	D	0.63703	0.917	T	0.12372	-1.0550	10	0.37606	T	0.19	.	18.582	0.91174	0.0:0.0:1.0:0.0	.	1046	Q15058	KIF14_HUMAN	G	1046	ENSP00000356319:R1046G	ENSP00000356319:R1046G	R	-	1	0	KIF14	198821957	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.067000	0.71193	2.442000	0.82660	0.491000	0.48974	CGC		0.353	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		C	200555334	G	C	200555334	3	2	602	1	0	0	0	0	1	0	0	0	8278	1116	39	4	1858	4	KIF14	1	200555334	Missense_Mutation	SNP	G	TCGA-CZ-5470-01A-01D-1501-10	4300485	200555334	48695287	7	33006											
RNF144A	9781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	7164573	7164573	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr2:7164573G>C	ENST00000320892.6	+	7	1025	c.583G>C	c.(583-585)Gac>Cac	p.D195H	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	195					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D195H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CATCGAGCGAGACGAAGGCTG	0.557																																																1	Substitution - Missense(1)	kidney(1)											108	91	97					2																	7164573		2203	4300	6503	SO:0001583	missense	9781			D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.583G>C	2.37:g.7164573G>C	ENSP00000321330:p.Asp195His		D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.83|16.83	3.230189|3.230189	0.58777|0.58777	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000320892|ENST00000432850	T|.	0.81163|.	-1.46|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76069|0.76069	0.3936|0.3936	M|M	0.69248|0.69248	2.105|2.105	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.72338|.	0.977|.	T|T	0.72763|0.72763	-0.4195|-0.4195	10|5	0.54805|.	T|.	0.06|.	.|.	20.2181|20.2181	0.98305|0.98305	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	195|.	P50876|.	R144A_HUMAN|.	H|D	195|190	ENSP00000321330:D195H|.	ENSP00000321330:D195H|.	D|E	+|+	1|3	0|2	RNF144A|RNF144A	7082024|7082024	1.000000|1.000000	0.71417|0.71417	0.638000|0.638000	0.29380|0.29380	0.056000|0.056000	0.15407|0.15407	7.949000|7.949000	0.87791|0.87791	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	GAC|GAG		0.557	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		C	7164573	G	C	7164573	3	2	602	1	0	0	0	0	1	0	0	0	13451	942	33	4	601	4	RNF144A	2	7164573	Missense_Mutation	SNP	G	TCGA-CZ-5470-01A-01D-1501-10		7164573	236034800	8	33007											
KIF1A	547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	241686667	241686667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr2:241686667G>A	ENST00000320389.7	-	27	2904	c.2746C>T	c.(2746-2748)Cag>Tag	p.Q916*	KIF1A_ENST00000498729.2_Nonsense_Mutation_p.Q1017*	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	916					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.Q916*(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCAAAATGCTGGTCATCAAAG	0.552																																																1	Substitution - Nonsense(1)	kidney(1)											64	70	68					2																	241686667		1951	4153	6104	SO:0001587	stop_gained	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2746C>T	2.37:g.241686667G>A	ENSP00000322791:p.Gln916*		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Nonsense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	44	10.622107	0.99439	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.	.	.	4.61	2.68	0.31781	.	0.062457	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	13.0981	0.59204	0.0:0.3097:0.6903:0.0	.	.	.	.	X	916;1017;1017;1017	.	ENSP00000322791:Q916X	Q	-	1	0	KIF1A	241335340	0.999000	0.42202	0.993000	0.49108	0.864000	0.49448	2.002000	0.40835	0.320000	0.23234	0.467000	0.42956	CAG		0.552	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		A	241686667	G	A	241686667	4	1	602	1	0	0	0	0	0	1	0	0	8285	1357	47	2	2410	2	KIF1A	2	241686667	Nonsense_Mutation	SNP	G	TCGA-CZ-5470-01A-01D-1501-10	234522094	241686667	1512706	9	33008											
CHL1	10752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	367660	367660	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr3:367660T>A	ENST00000256509.2	+	4	752	c.110T>A	c.(109-111)aTc>aAc	p.I37N	CHL1_ENST00000397491.2_Missense_Mutation_p.I37N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.I37N(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GTTCCAACAATCATAAAACAG	0.333																																																1	Substitution - Missense(1)	kidney(1)											81	82	82					3																	367660		2203	4300	6503	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.110T>A	3.37:g.367660T>A	ENSP00000256509:p.Ile37Asn		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229709	0.79688	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000427688;ENST00000421198;ENST00000435603;ENST00000449294	T;T;T;D;T;D	0.96913	1.06;1.06;-0.45;-4.17;-0.94;-4.17	5.8	5.8	0.92144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059300	0.64402	D	0.000003	D	0.98429	0.9477	M	0.91612	3.225	0.53005	D	0.999962	D;D;D	0.89917	1.0;0.999;0.996	D;D;D	0.91635	0.999;0.976;0.966	D	0.99544	1.0964	10	0.87932	D	0	.	14.7433	0.69472	0.0:0.0:0.0:1.0	.	37;37;37	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	N	37	ENSP00000256509:I37N;ENSP00000380628:I37N;ENSP00000403311:I37N;ENSP00000413628:I37N;ENSP00000397445:I37N;ENSP00000390440:I37N	ENSP00000256509:I37N	I	+	2	0	CHL1	342660	1.000000	0.71417	0.404000	0.26397	0.998000	0.95712	6.400000	0.73252	2.209000	0.71365	0.524000	0.50904	ATC		0.333	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		A	367660	T	A	367660	3	1	602	1	0	0	0	0	1	0	0	0	3351	1435	50	5	116	5	CHL1	3	367660	Missense_Mutation	SNP	T	TCGA-CZ-5470-01A-01D-1501-10		367660	197654770	10	33009											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188200	10188200	+	Missense_Mutation	SNP	C	C	A	rs5030812|rs5030811		TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr3:10188200C>A	ENST00000256474.2	+	2	1183	c.343C>A	c.(343-345)Cac>Aac	p.H115N	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	115	Involved in binding to CCT complex.		H -> Q (in VHLD; type II). {ECO:0000269|PubMed:9829912}.|H -> R (in VHLD; type II; dbSNP:rs5030812).|H -> Y (in VHLD; type I; dbSNP:rs5030811). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.H115N(7)|p.H115Y(5)|p.?(3)|p.H115fs*15(1)|p.H115D(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.H115fs*44(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGATAGGTCACCTTTGGCT	0.532		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	20	Substitution - Missense(13)|Deletion - Frameshift(4)|Unknown(3)	kidney(19)|pancreas(1)	GRCh37	CM961423|CM982005	VHL	M	rs5030811						167	155	159					3																	10188200		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.343C>A	3.37:g.10188200C>A	ENSP00000256474:p.His115Asn		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226834	0.58668	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99963	-9.61	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99966	0.9987	M	0.84511	2.7	0.80722	D	1	D	0.64830	0.994	D	0.67548	0.952	D	0.94877	0.8035	10	0.72032	D	0.01	0.1733	16.3181	0.82935	0.0:1.0:0.0:0.0	.	115	P40337	VHL_HUMAN	N	115;33	ENSP00000256474:H115N	ENSP00000256474:H115N	H	+	1	0	VHL	10163200	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	5.806000	0.69150	2.530000	0.85305	0.563000	0.77884	CAC		0.532	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10188200	C	A	10188200	3	1	602	1	0	0	0	0	1	0	0	0	17167	826	29	4	349	4	VHL	3	10188200	Missense_Mutation	SNP	C	TCGA-CZ-5470-01A-01D-1501-10	9820540	10188200	187834230	11	33010											
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47163209	47163209	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr3:47163209T>A	ENST00000409792.3	-	3	2959	c.2917A>T	c.(2917-2919)Aga>Tga	p.R973*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	973					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R973*(1)|p.R470*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTCCTCTTCTTTCAGGCAAT	0.408			"N, F, S, Mis"		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											93	93	93					3																	47163209		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2917A>T	3.37:g.47163209T>A	ENSP00000386759:p.Arg973*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	38	6.882653	0.97908	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.16	3.99	0.46301	.	0.291027	0.29846	N	0.011051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2577	0.06837	0.0:0.1436:0.2478:0.6086	.	.	.	.	X	973;973;973;929	.	.	R	-	1	2	SETD2	47138213	0.035000	0.19736	0.997000	0.53966	0.977000	0.68977	0.334000	0.19787	2.154000	0.67381	0.528000	0.53228	AGA		0.408	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		A	47163209	T	A	47163209	4	1	602	1	0	0	0	0	0	1	0	0	14137	1617	56	5	4853	5	SETD2	3	47163209	Nonsense_Mutation	SNP	T	TCGA-CZ-5470-01A-01D-1501-10	36975009	47163209	150859221	12	33011											
BAP1	51533	hgsc.bcm.edu;ucsc.edu	37	3	52443623	52443647	+	5'Flank	DEL	ACCTGCGATGAGGAAAGGAAAGCAG	ACCTGCGATGAGGAAAGGAAAGCAG	-	rs141802003		TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	ACCTGCGATGAGGAAAGGAAAGCAG	ACCTGCGATGAGGAAAGGAAAGCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr3:52443623_52443647delACCTGCGATGAGGAAAGGAAAGCAG	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Splice_Site_p.A23fs|BAP1_ENST00000296288.5_Splice_Site_p.A23fs	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGA	0.604																																																0																																										SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443623_52443647delACCTGCGATGAGGAAAGGAAAGCAG	Exception_encountered		K4DI82	In_Frame_Del	DEL	ENST00000327906.3	37	CCDS2854.1																																																																																				0.604	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		-	52443647	ACCTGCGATGAGGAAAGGAAAGCAG	-	52443623	6	5	602	0	1	1	0	1	0	0	0	0	1311	173	6	0		0	BAP1	3	52443623	5'Flank	DEL	ACCTGCGATGAGGAAAGGAAAGCAG	TCGA-CZ-5470-01A-01D-1501-10	5280414	52443623	145578807	13	33012											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52610659	52610659	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr3:52610659delT	ENST00000296302.7	-	22	3590	c.3589delA	c.(3589-3591)attfs	p.I1197fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.I1172fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.I1212fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.I1197fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.I1212fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.I1172fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.I1197fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.I1165fs			Q86U86	PB1_HUMAN	polybromo 1	1197	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTGGGTGAATGAAGATGGGG	0.363			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													117	113	115					3																	52610659		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3589delA	3.37:g.52610659delT	ENSP00000296302:p.Ile1197fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52610659	T	-	52610659	7	5	602	1	0	1	0	1	0	0	0	0	11493	1464	51	0	1347	0	PBRM1	3	52610659	Frame_Shift_Del	DEL	T	TCGA-CZ-5470-01A-01D-1501-10	167036	52610659	145411771	14	33013											
PROS1	5627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	93598122	93598122	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr3:93598122delA	ENST00000394236.3	-	13	1845	c.1529delT	c.(1528-1530)gtgfs	p.V510fs	PROS1_ENST00000407433.1_Frame_Shift_Del_p.V379fs	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	510	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATTCAAGGTCACATTTACATG	0.433																																																0													153	132	139					3																	93598122		2203	4300	6503	SO:0001589	frameshift_variant	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1529delT	3.37:g.93598122delA	ENSP00000377783:p.Val510fs		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Frame_Shift_Del	DEL	ENST00000394236.3	37	CCDS2923.1																																																																																				0.433	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		-	93598122	A	-	93598122	7	5	602	1	0	1	0	1	0	0	0	0	12563	159	6	0	513	0	PROS1	3	93598122	Frame_Shift_Del	DEL	A	TCGA-CZ-5470-01A-01D-1501-10	40987463	93598122	104424308	15	33014											
NFKBIZ	64332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	101573504	101573504	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr3:101573504G>T	ENST00000326172.5	+	6	1535	c.1420G>T	c.(1420-1422)Gat>Tat	p.D474Y	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.D352Y|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.D374Y	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	474	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D474Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TCACATGCTGGATATTAAAGA	0.463																																																1	Substitution - Missense(1)	kidney(1)											118	104	109					3																	101573504		2203	4300	6503	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1420G>T	3.37:g.101573504G>T	ENSP00000325663:p.Asp474Tyr		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486554	0.84854	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.064033	0.64402	D	0.000005	T	0.73187	0.3555	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77640	-0.2512	10	0.72032	D	0.01	-5.8635	20.148	0.98083	0.0:0.0:1.0:0.0	.	352;474	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	Y	374;374;352;474	ENSP00000419800:D374Y;ENSP00000377618:D374Y;ENSP00000325593:D352Y;ENSP00000325663:D474Y	ENSP00000325593:D352Y	D	+	1	0	NFKBIZ	103056194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.192000	0.77771	2.834000	0.97654	0.655000	0.94253	GAT		0.463	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		T	101573504	G	T	101573504	3	4	602	1	0	0	0	0	1	0	0	0	10385	1174	41	4	1442	4	NFKBIZ	3	101573504	Missense_Mutation	SNP	G	TCGA-CZ-5470-01A-01D-1501-10	7975382	101573504	96448926	16	33015											
ALCAM	214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	105266275	105266275	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr3:105266275G>A	ENST00000306107.5	+	11	1782	c.1282G>A	c.(1282-1284)Gga>Aga	p.G428R	ALCAM_ENST00000486979.2_Missense_Mutation_p.G377R|ALCAM_ENST00000389927.4_Missense_Mutation_p.G150R|ALCAM_ENST00000472644.2_Missense_Mutation_p.G428R	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	428	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.G428R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGATCCCAGTGGACTATCTAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											64	61	62					3																	105266275		2203	4298	6501	SO:0001583	missense	214			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1282G>A	3.37:g.105266275G>A	ENSP00000305988:p.Gly428Arg		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.17|19.17	3.776267|3.776267	0.70107|0.70107	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|.	0.23348|.	2.12;2.12;2.12;1.91|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.200409|.	0.51477|.	D|.	0.000089|.	T|.	0.56731|.	0.2005|.	L|L	0.36672|0.36672	1.1|1.1	0.46260|0.46260	D|D	0.998953|0.998953	D;D;D|.	0.69078|.	0.995;0.997;0.997|.	D;D;D|.	0.67231|.	0.95;0.949;0.949|.	T|.	0.51903|.	-0.8646|.	10|.	0.87932|.	D|.	0|.	-16.0087|-16.0087	13.3274|13.3274	0.60467|0.60467	0.0817:0.0:0.9183:0.0|0.0817:0.0:0.9183:0.0	.|.	150;428;428|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	R|X	428;428;377;150|188	ENSP00000305988:G428R;ENSP00000419236:G428R;ENSP00000418213:G377R;ENSP00000374577:G150R|.	ENSP00000305988:G428R|.	G|W	+|+	1|2	0|0	ALCAM|ALCAM	106748965|106748965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	4.802000|4.802000	0.62539|0.62539	2.639000|2.639000	0.89480|0.89480	0.460000|0.460000	0.39030|0.39030	GGA|TGG		0.353	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		A	105266275	G	A	105266275	3	1	602	1	0	0	0	0	1	0	0	0	487	1349	47	2	1324	2	ALCAM	3	105266275	Missense_Mutation	SNP	G	TCGA-CZ-5470-01A-01D-1501-10	3692771	105266275	92756155	17	33016											
FEM1C	56929	broad.mit.edu;ucsc.edu	37	5	114860153	114860153	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr5:114860153T>C	ENST00000274457.3	-	3	2267	c.1706A>G	c.(1705-1707)gAt>gGt	p.D569G		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	569					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.D569G(1)		breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTCCTTCTCATCCAGCAAGTC	0.363																																																1	Substitution - Missense(1)	kidney(1)											134	131	132					5																	114860153		2202	4300	6502	SO:0001583	missense	56929				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1706A>G	5.37:g.114860153T>C	ENSP00000274457:p.Asp569Gly		B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525305	0.27299	.	.	ENSG00000145780	ENST00000274457	T	0.67523	-0.27	4.98	4.98	0.66077	Ankyrin repeat-containing domain (2);	0.051111	0.85682	D	0.000000	T	0.63686	0.2532	M	0.72479	2.2	0.58432	D	0.999998	P	0.41041	0.736	B	0.35550	0.205	T	0.66972	-0.5788	10	0.38643	T	0.18	-22.4393	14.6749	0.68972	0.0:0.0:0.0:1.0	.	569	Q96JP0	FEM1C_HUMAN	G	569	ENSP00000274457:D569G	ENSP00000274457:D569G	D	-	2	0	FEM1C	114888052	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	7.990000	0.88215	1.864000	0.54056	0.460000	0.39030	GAT		0.363	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		C	114860153	T	C	114860153	3	2	602	1	0	0	0	0	1	0	0	0	5813	1435	50	3	151	3	FEM1C	5	114860153	Missense_Mutation	SNP	T	TCGA-CZ-5470-01A-01D-1501-10		114860153	66055107	18	33017											
ANKHD1	54882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139905891	139905891	+	Silent	SNP	C	C	T			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr5:139905891C>T	ENST00000360839.2	+	26	4957	c.4803C>T	c.(4801-4803)tgC>tgT	p.C1601C	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.C1601C|ANKHD1_ENST00000297183.6_Silent_p.C1601C|ANKHD1_ENST00000544120.1_5'UTR|SNORD45_ENST00000363181.1_RNA	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1601						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.C1601C(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGACTGCAACAGTGAGA	0.423																																																2	Substitution - coding silent(2)	kidney(2)											135	149	144					5																	139905891		2203	4300	6503	SO:0001819	synonymous_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4803C>T	5.37:g.139905891C>T			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	9.059	0.994064	0.19043	.	.	ENSG00000131503	ENST00000435794;ENST00000432301	.	.	.	5.41	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0219	0.71637	0.0:0.9196:0.0:0.0804	.	.	.	.	X	92;52	.	.	Q	+	1	0	ANKHD1	139886075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.367000	0.44213	2.542000	0.85734	0.557000	0.71058	CAA		0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		T	139905891	C	T	139905891	2	4	602	1	0	0	0	0	0	0	0	1	628	718	25	2		2	ANKHD1	5	139905891	Silent	SNP	C	TCGA-CZ-5470-01A-01D-1501-10	25045738	139905891	41009369	19	33018											
PCDH12	51294	broad.mit.edu	37	5	141337114	141337114	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr5:141337114C>A	ENST00000231484.3	-	1	1513	c.303G>T	c.(301-303)tgG>tgT	p.W101C	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W101C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGGGATCCCACTGTCGGC	0.587																																																1	Substitution - Missense(1)	kidney(1)											70	74	73					5																	141337114		2203	4300	6503	SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.303G>T	5.37:g.141337114C>A	ENSP00000231484:p.Trp101Cys		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728627	0.30593	.	.	ENSG00000113555	ENST00000231484	T	0.26957	1.7	4.81	2.36	0.29203	Cadherin, N-terminal (1);Cadherin (3);	1.422770	0.03830	N	0.268906	T	0.17323	0.0416	N	0.08118	0	0.34435	D	0.69896	P	0.41784	0.762	B	0.41440	0.357	T	0.15752	-1.0426	10	0.66056	D	0.02	.	7.1945	0.25845	0.0:0.6966:0.0:0.3034	.	101	Q9NPG4	PCD12_HUMAN	C	101	ENSP00000231484:W101C	ENSP00000231484:W101C	W	-	3	0	PCDH12	141317298	0.000000	0.05858	0.926000	0.36857	0.994000	0.84299	-1.041000	0.03542	0.918000	0.36919	0.563000	0.77884	TGG		0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		A	141337114	C	A	141337114	3	1	602	1	0	0	0	0	1	0	0	0	11512	624	22	4	3267	4	PCDH12	5	141337114	Missense_Mutation	SNP	C	TCGA-CZ-5470-01A-01D-1501-10	1431223	141337114	39578146	20	33019											
LCP2	3937	broad.mit.edu;hgsc.bcm.edu	37	5	169694070	169694070	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr5:169694070G>A	ENST00000046794.5	-	9	1246	c.631C>T	c.(631-633)Cca>Tca	p.P211S	LCP2_ENST00000521416.1_Missense_Mutation_p.P6S	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	211					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.P211S(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GTCTGGGGTGGGGGCAGTGGC	0.537																																																2	Substitution - Missense(2)	kidney(2)											140	152	148					5																	169694070		1975	4159	6134	SO:0001583	missense	3937				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.631C>T	5.37:g.169694070G>A	ENSP00000046794:p.Pro211Ser		A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	G	7.158	0.585150	0.13749	.	.	ENSG00000043462	ENST00000046794;ENST00000521416;ENST00000520344	T;T	0.43688	0.96;0.94	5.18	3.33	0.38152	.	0.436636	0.23870	N	0.043755	T	0.33789	0.0875	L	0.43152	1.355	0.09310	N	0.999999	B;B;B	0.30793	0.295;0.027;0.033	B;B;B	0.32211	0.142;0.009;0.021	T	0.14980	-1.0453	9	.	.	.	-0.3784	10.5029	0.44817	0.0:0.0:0.6473:0.3527	.	6;211;211	E7ESF6;A8KA25;Q13094	.;.;LCP2_HUMAN	S	211;6;6	ENSP00000046794:P211S;ENSP00000428871:P6S	.	P	-	1	0	LCP2	169626648	0.847000	0.29606	0.036000	0.18154	0.123000	0.20343	1.681000	0.37618	0.526000	0.28541	0.561000	0.74099	CCA		0.537	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		A	169694070	G	A	169694070	3	1	602	1	0	0	0	0	1	0	0	0	8694	1232	43	2	1022	2	LCP2	5	169694070	Missense_Mutation	SNP	G	TCGA-CZ-5470-01A-01D-1501-10	28356956	169694070	11221190	21	33020											
HIVEP1	3096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	12125187	12125187	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr6:12125187C>A	ENST00000379388.2	+	4	5491	c.5159C>A	c.(5158-5160)tCa>tAa	p.S1720*	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1720					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1720*(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCTTCTCTATCAGAATCCTTG	0.388																																																1	Substitution - Nonsense(1)	kidney(1)											63	61	62					6																	12125187		1817	4077	5894	SO:0001587	stop_gained	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5159C>A	6.37:g.12125187C>A	ENSP00000368698:p.Ser1720*		B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	44	10.904840	0.99486	.	.	ENSG00000095951	ENST00000379388	.	.	.	5.58	3.74	0.42951	.	0.339094	0.16826	N	0.197944	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2688	7.8768	0.29599	0.0:0.6718:0.0:0.3282	.	.	.	.	X	1720	.	.	S	+	2	0	HIVEP1	12233173	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.403000	0.20982	0.654000	0.30846	0.655000	0.94253	TCA		0.388	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		A	12125187	C	A	12125187	4	1	602	1	0	0	0	0	0	1	0	0	7188	838	29	4	5169	4	HIVEP1	6	12125187	Nonsense_Mutation	SNP	C	TCGA-CZ-5470-01A-01D-1501-10		12125187	158989880	22	33021											
FTSJD2	23070	broad.mit.edu;ucsc.edu	37	6	37447813	37447813	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr6:37447813C>G	ENST00000373451.4	+	24	2564	c.2400C>G	c.(2398-2400)ttC>ttG	p.F800L		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	800	Interaction with POLR2A.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.F800L(1)									GCCGGCTCTTCTGGGAGTGGG	0.577																																																1	Substitution - Missense(1)	kidney(1)											110	105	107					6																	37447813		2203	4300	6503	SO:0001583	missense	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.2400C>G	6.37:g.37447813C>G	ENSP00000362550:p.Phe800Leu		A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	C	5.850	0.341018	0.11069	.	.	ENSG00000137200	ENST00000373451	.	.	.	5.16	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	L	0.43923	1.385	0.42723	D	0.993687	B	0.09022	0.002	B	0.06405	0.002	T	0.16689	-1.0394	9	0.02654	T	1	-20.4543	9.3472	0.38115	0.0:0.9039:0.0:0.0961	.	800	Q8N1G2	MTR1_HUMAN	L	800	.	ENSP00000362550:F800L	F	+	3	2	FTSJD2	37555791	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.547000	0.53663	1.416000	0.47057	0.561000	0.74099	TTC		0.577	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		G	37447813	C	G	37447813	3	3	602	1	0	0	0	0	1	0	0	0	6093	912	32	4	2490	4	FTSJD2	6	37447813	Missense_Mutation	SNP	C	TCGA-CZ-5470-01A-01D-1501-10	25322626	37447813	133667254	23	33022											
FZD9	8326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	72849270	72849270	+	Silent	SNP	G	G	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr7:72849270G>A	ENST00000344575.3	+	1	1162	c.933G>A	c.(931-933)acG>acA	p.T311T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	311					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.T311T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGAGAACACGGGCTGCACGC	0.667																																					Pancreas(144;909 1878 36867 38226 39554)											1	Substitution - coding silent(1)	kidney(1)											104	94	97					7																	72849270		2202	4300	6502	SO:0001819	synonymous_variant	8326			U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.933G>A	7.37:g.72849270G>A				Silent	SNP	ENST00000344575.3	37	CCDS5548.1																																																																																				0.667	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			A	72849270	G	A	72849270	2	1	602	1	0	0	0	0	0	0	0	1	6139	1103	39	1		1	FZD9	7	72849270	Silent	SNP	G	TCGA-CZ-5470-01A-01D-1501-10		72849270	86289393	24	33023											
PCLO	27445	hgsc.bcm.edu	37	7	82784434	82784463	+	In_Frame_Del	DEL	TTTGTTGAGCCAGGCTGTTGAGATGGGGGC	TTTGTTGAGCCAGGCTGTTGAGATGGGGGC	-	rs6972461|rs375483530|rs369207658	byFrequency	TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	TTTGTTGAGCCAGGCTGTTGAGATGGGGGC	TTTGTTGAGCCAGGCTGTTGAGATGGGGGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr7:82784434_82784463delTTTGTTGAGCCAGGCTGTTGAGATGGGGGC	ENST00000333891.9	-	2	1831_1860	c.1494_1523delGCCCCCATCTCAACAGCCTGGCTCAACAAA	c.(1492-1524)aagcccccatctcaacagcctggctcaacaaaa>aaa	p.498_508KPPSQQPGSTK>K	PCLO_ENST00000423517.2_In_Frame_Del_p.498_508KPPSQQPGSTK>K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P500Q(2)|p.P446Q(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGTGGGGGTTTTGTTGAGCCAGGCTGTTGAGATGGGGGCTTTGCTGAGC	0.6																																																3	Substitution - Missense(3)	lung(3)																																								SO:0001651	inframe_deletion	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1494_1523delGCCCCCATCTCAACAGCCTGGCTCAACAAA	7.37:g.82784434_82784463delTTTGTTGAGCCAGGCTGTTGAGATGGGGGC	ENSP00000334319:p.Lys498_Thr507del			In_Frame_Del	DEL	ENST00000333891.9	37	CCDS47630.1																																																																																				0.6	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		-	82784463	TTTGTTGAGCCAGGCTGTTGAGATGGGGGC	-	82784434	7	5	602	1	0	1	0	1	0	0	0	0	11585	1841	64	0	14018	0	PCLO	7	82784434	In_Frame_Del	DEL	TTTGTTGAGCCAGGCTGTTGAGATGGGGGC	TCGA-CZ-5470-01A-01D-1501-10	9935164	82784434	76354229	25	33024											
TRRAP	8295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	98507681	98507681	+	Silent	SNP	T	T	C			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr7:98507681T>C	ENST00000359863.4	+	15	1562	c.1353T>C	c.(1351-1353)gtT>gtC	p.V451V	TRRAP_ENST00000446306.3_Silent_p.V451V|TRRAP_ENST00000355540.3_Silent_p.V451V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	451					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.V451V(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCGTTAGGTTTTCGTTCTCA	0.443																																																2	Substitution - coding silent(2)	kidney(2)											108	116	113					7																	98507681		2203	4300	6503	SO:0001819	synonymous_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1353T>C	7.37:g.98507681T>C			A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	4.365	0.067332	0.08388	.	.	ENSG00000196367	ENST00000456197	.	.	.	4.85	-5.27	0.02763	.	.	.	.	.	T	0.37758	0.1015	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34625	-0.9821	4	.	.	.	.	2.3318	0.04238	0.2823:0.1401:0.4135:0.1641	.	.	.	.	S	166	.	.	F	+	2	0	TRRAP	98345617	0.979000	0.34478	0.920000	0.36463	0.660000	0.38997	0.054000	0.14205	-1.369000	0.02147	-0.501000	0.04562	TTT		0.443	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		C	98507681	T	C	98507681	2	2	602	1	0	0	0	0	0	0	0	1	16606	1828	64	3		3	TRRAP	7	98507681	Silent	SNP	T	TCGA-CZ-5470-01A-01D-1501-10	15723247	98507681	60630982	26	33025											
ZNF655	79027	broad.mit.edu;hgsc.bcm.edu	37	7	99169358	99169358	+	Intron	SNP	C	C	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr7:99169358C>A	ENST00000394163.2	+	3	319				GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000424881.1_Missense_Mutation_p.L62I|ZNF655_ENST00000493277.1_Missense_Mutation_p.L62I|ZNF655_ENST00000252713.4_Intron|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_Silent_p.I90I|ZNF655_ENST00000454654.1_Silent_p.I90I	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655						negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L62I(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GGAACAGGATCTACAGGTCTT	0.443																																																1	Substitution - Missense(1)	kidney(1)											55	51	52					7																	99169358		1840	4096	5936	SO:0001627	intron_variant	79027			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.137-510C>A	7.37:g.99169358C>A			A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781542	0.49891	.	.	ENSG00000197343	ENST00000493277;ENST00000422164;ENST00000422647;ENST00000427931;ENST00000424881	T;T;T;T;T	0.32515	3.42;1.49;1.45;1.46;3.42	5.17	3.36	0.38483	.	.	.	.	.	T	0.22975	0.0555	L	0.44542	1.39	0.80722	D	1	B	0.33612	0.419	B	0.30782	0.12	T	0.04664	-1.0935	9	0.52906	T	0.07	.	7.0384	0.25006	0.0:0.7187:0.1884:0.093	.	62	Q8N720-3	.	I	62	ENSP00000419135:L62I;ENSP00000389260:L62I;ENSP00000393750:L62I;ENSP00000392244:L62I;ENSP00000393876:L62I	ENSP00000389260:L62I	L	+	1	2	ZNF655	99007294	0.636000	0.27207	1.000000	0.80357	0.963000	0.63663	0.641000	0.24720	0.874000	0.35823	0.655000	0.94253	CTA		0.443	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		A	99169358	C	A	99169358	1	1	602	0	1	0	0	0	0	0	0	0	18073	912	32	4		4	ZNF655	7	99169358	Intron	SNP	C	TCGA-CZ-5470-01A-01D-1501-10	661677	99169358	59969305	27	33026											
OR6V1	346517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	142749937	142749937	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr7:142749937G>A	ENST00000418316.1	+	1	521	c.500G>A	c.(499-501)tGc>tAc	p.C167Y		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C167Y(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CTTGATTACTGCCATGGCGAC	0.547																																																2	Substitution - Missense(2)	kidney(2)											117	125	123					7																	142749937		2116	4257	6373	SO:0001583	missense	346517				CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.500G>A	7.37:g.142749937G>A	ENSP00000396085:p.Cys167Tyr		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608363	0.28623	.	.	ENSG00000225781	ENST00000418316	T	0.00245	8.45	4.72	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.91249	3.19	0.24389	N	0.994756	D	0.89917	1.0	D	0.97110	1.0	T	0.24512	-1.0158	9	0.87932	D	0	.	12.439	0.55614	0.0:0.1705:0.8295:0.0	.	167	Q8N148	OR6V1_HUMAN	Y	167	ENSP00000396085:C167Y	ENSP00000396085:C167Y	C	+	2	0	OR6V1	142460059	0.997000	0.39634	0.582000	0.28627	0.091000	0.18340	1.588000	0.36633	1.170000	0.42753	0.655000	0.94253	TGC		0.547	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			A	142749937	G	A	142749937	3	1	602	1	0	0	0	0	1	0	0	0	11213	1319	46	2	502	2	OR6V1	7	142749937	Missense_Mutation	SNP	G	TCGA-CZ-5470-01A-01D-1501-10	43580579	142749937	16388726	28	33027											
CLCN1	1180	hgsc.bcm.edu;ucsc.edu	37	7	143020428	143020428	+	Silent	SNP	C	C	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr7:143020428C>A	ENST00000343257.2	+	6	810	c.723C>A	c.(721-723)atC>atA	p.I241I	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	241					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGCCAGCATCTGTGCTGCTG	0.572																																																0													103	92	96					7																	143020428		2203	4300	6503	SO:0001819	synonymous_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.723C>A	7.37:g.143020428C>A			A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	CCDS5881.1																																																																																				0.572	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		A	143020428	C	A	143020428	2	1	602	1	0	0	0	0	0	0	0	1	3464	903	32	4		4	CLCN1	7	143020428	Silent	SNP	C	TCGA-CZ-5470-01A-01D-1501-10	270491	143020428	16118235	29	33028											
MSR1	4481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	16035394	16035394	+	Splice_Site	SNP	C	C	T	rs150131889	byFrequency	TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr8:16035394C>T	ENST00000262101.5	-	2	225		c.e2+1		MSR1_ENST00000536385.1_Splice_Site|MSR1_ENST00000350896.3_Splice_Site|MSR1_ENST00000355282.2_Splice_Site|MSR1_ENST00000445506.2_Splice_Site|MSR1_ENST00000381998.4_Splice_Site			P21757	MSRE_HUMAN	macrophage scavenger receptor 1						cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.?(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCTCTACTTACTCGGAGGAAG	0.428																																																2	Unknown(2)	kidney(2)											72	67	69					8																	16035394		2203	4300	6503	SO:0001630	splice_region_variant	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.103+1G>A	8.37:g.16035394C>T			D3DSP3|O60505|P21759|Q45F10	Splice_Site	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	9.336	1.061785	0.19987	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998;ENST00000518960;ENST00000518026	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.016	0.71584	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MSR1	16079765	0.994000	0.37717	0.980000	0.43619	0.027000	0.11550	3.498000	0.53302	2.703000	0.92315	0.543000	0.68304	.		0.428	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		Intron	T	16035394	C	T	16035394	5	4	602	1	0	0	0	0	0	0	1	0	9888	579	20	2	1335	2	MSR1	8	16035394	Splice_Site	SNP	C	TCGA-CZ-5470-01A-01D-1501-10		16035394	130328628	30	33029											
LRP12	29967	hgsc.bcm.edu;ucsc.edu	37	8	105503470	105503470	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr8:105503470C>T	ENST00000276654.5	-	7	2119	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I	LRP12_ENST00000424843.2_Missense_Mutation_p.V652I|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	671					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGAGCTGCAACCCCACCAGAT	0.488																																																0													78	75	76					8																	105503470		2203	4300	6503	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2011G>A	8.37:g.105503470C>T	ENSP00000276654:p.Val671Ile		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536511	0.45176	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.83673	-1.75;-1.68	5.72	3.9	0.45041	.	0.240138	0.43110	D	0.000602	T	0.70649	0.3248	N	0.19112	0.55	0.39646	D	0.970392	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.67229	-0.5723	10	0.36615	T	0.2	-21.4697	12.0121	0.53293	0.0:0.8606:0.0:0.1394	.	652;671	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	I	652;671;36	ENSP00000399148:V652I;ENSP00000276654:V671I	ENSP00000276654:V671I	V	-	1	0	LRP12	105572646	0.961000	0.32948	1.000000	0.80357	0.997000	0.91878	1.955000	0.40372	1.554000	0.49487	0.650000	0.86243	GTT		0.488	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		T	105503470	C	T	105503470	3	4	602	1	0	0	0	0	1	0	0	0	8956	507	18	2	572	2	LRP12	8	105503470	Missense_Mutation	SNP	C	TCGA-CZ-5470-01A-01D-1501-10	89468076	105503470	40860552	31	33030											
RGP1	57704	broad.mit.edu;hgsc.bcm.edu	37	9	35751400	35751400	+	5'Flank	SNP	C	C	T			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr9:35751400C>T	ENST00000378103.3	-	0	0				MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000456972.2_Missense_Mutation_p.R249C|RGP1_ENST00000378078.4_Missense_Mutation_p.R209C|GBA2_ENST00000378094.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.R249C(1)|p.R209C(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACATCCTGCCGCAGCCTCCG	0.527																																																2	Substitution - Missense(2)	kidney(2)											47	54	52					9																	35751400		2043	4206	6249	SO:0001631	upstream_gene_variant	9827			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35751400C>T	Exception_encountered		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824879	0.71143	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	M	0.81112	2.525	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67548	0.952;0.952	T	0.79388	-0.1824	9	0.87932	D	0	-14.8918	9.6342	0.39798	0.1433:0.783:0.0:0.0737	.	209;209	Q92546;A8K0K1	RGP1_HUMAN;.	C	249;209	.	ENSP00000367318:R209C	R	+	1	0	RGP1	35741400	0.992000	0.36948	1.000000	0.80357	0.987000	0.75469	6.659000	0.74412	2.756000	0.94617	0.561000	0.74099	CGC		0.527	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		T	35751400	C	T	35751400	1	4	602	0	1	0	0	0	0	0	0	0	13290	652	23	1		1	RGP1	9	35751400	5'Flank	SNP	C	TCGA-CZ-5470-01A-01D-1501-10		35751400	105462031	32	33031											
SLC2A8	29988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130169437	130169437	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr9:130169437G>A	ENST00000373371.3	+	10	1432	c.1343G>A	c.(1342-1344)tGc>tAc	p.C448Y	SLC2A8_ENST00000373360.3_Silent_p.L399L|SLC2A8_ENST00000373352.1_Missense_Mutation_p.C185Y	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	448					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)	p.C448Y(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TCCGCTTTCTGCATCTTCAGT	0.542																																																1	Substitution - Missense(1)	kidney(1)											148	129	136					9																	130169437		2203	4300	6503	SO:0001583	missense	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1343G>A	9.37:g.130169437G>A	ENSP00000362469:p.Cys448Tyr		Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112202	0.77210	.	.	ENSG00000136856	ENST00000373371;ENST00000373352	T;T	0.80824	0.32;-1.42	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92090	0.7493	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93767	0.7071	10	0.62326	D	0.03	.	16.0489	0.80740	0.0:0.0:1.0:0.0	.	448	Q9NY64	GTR8_HUMAN	Y	448;185	ENSP00000362469:C448Y;ENSP00000362450:C185Y	ENSP00000362450:C185Y	C	+	2	0	SLC2A8	129209258	1.000000	0.71417	0.957000	0.39632	0.794000	0.44872	9.167000	0.94773	2.445000	0.82738	0.655000	0.94253	TGC		0.542	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		A	130169437	G	A	130169437	3	1	602	1	0	0	0	0	1	0	0	0	14557	1319	46	2	1381	2	SLC2A8	9	130169437	Missense_Mutation	SNP	G	TCGA-CZ-5470-01A-01D-1501-10	94418037	130169437	11043994	33	33032											
ITGB1	3688	broad.mit.edu;hgsc.bcm.edu	37	10	33199315	33199315	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr10:33199315T>C	ENST00000396033.2	-	14	2135	c.2000A>G	c.(1999-2001)tAt>tGt	p.Y667C	ITGB1_ENST00000374956.4_Missense_Mutation_p.Y667C|ITGB1_ENST00000423113.1_Missense_Mutation_p.Y667C|ITGB1_ENST00000302278.3_Missense_Mutation_p.Y667C	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	667					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)	p.Y667C(2)		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)	AATGTTAAAATAGGAACATTC	0.408																																																2	Substitution - Missense(2)	kidney(2)											47	48	48					10																	33199315		2203	4296	6499	SO:0001583	missense	3688			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.2000A>G	10.37:g.33199315T>C	ENSP00000379350:p.Tyr667Cys		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369533	0.61624	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	5.65	5.65	0.86999	Integrin beta subunit, tail (2);	0.279243	0.40640	N	0.001052	D	0.94857	0.8338	M	0.75447	2.3	0.31580	N	0.655277	P;P;P;P;P	0.52842	0.931;0.944;0.881;0.502;0.956	P;P;P;B;P	0.58660	0.757;0.843;0.729;0.326;0.774	D	0.94735	0.7913	10	0.44086	T	0.13	.	15.8844	0.79232	0.0:0.0:0.0:1.0	.	667;667;667;667;667	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	C	667	ENSP00000379350:Y667C;ENSP00000388694:Y667C;ENSP00000303351:Y667C;ENSP00000364094:Y667C	ENSP00000303351:Y667C	Y	-	2	0	ITGB1	33239321	0.999000	0.42202	0.722000	0.30670	0.766000	0.43426	5.119000	0.64679	2.163000	0.67991	0.459000	0.35465	TAT		0.408	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		C	33199315	T	C	33199315	3	2	602	1	0	0	0	0	1	0	0	0	7892	1406	49	3	646	3	ITGB1	10	33199315	Missense_Mutation	SNP	T	TCGA-CZ-5470-01A-01D-1501-10		33199315	102335432	34	33033											
IFT46	56912	hgsc.bcm.edu;ucsc.edu	37	11	118427645	118427647	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	TCA	TCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr11:118427645_118427647delTCA	ENST00000264021.3	-	4	577_579	c.159_161delTGA	c.(157-162)gatgaa>gaa	p.D53del	IFT46_ENST00000530872.1_In_Frame_Del_p.D104del|IFT46_ENST00000264020.2_In_Frame_Del_p.D104del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	53	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TCCATGCTCTTCATCATCATCAT	0.473																																																0																																										SO:0001651	inframe_deletion	56912			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.159_161delTGA	11.37:g.118427654_118427656delTCA	ENSP00000264021:p.Asp53del		A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	CCDS53718.1																																																																																				0.473	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		-	118427647	TCA	-	118427645	7	5	602	1	0	1	0	1	0	0	0	0	7562	1783	62	0	789	0	IFT46	11	118427645	In_Frame_Del	DEL	TCA	TCGA-CZ-5470-01A-01D-1501-10		118427645	16578871	35	33034											
WNK1	65125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	977348	977348	+	Intron	SNP	A	A	G			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr12:977348A>G	ENST00000315939.6	+	9	2782				WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.H118R|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.H904R|WNK1_ENST00000537687.1_Missense_Mutation_p.H819R	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.H819R(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATACAGGTCCATCCTATGTTT	0.458																																					Colon(19;451 567 6672 12618 28860)											1	Substitution - Missense(1)	kidney(1)											66	65	66					12																	977348		1930	4133	6063	SO:0001627	intron_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3083A>G	12.37:g.977348A>G			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	0.191	-1.052956	0.01965	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.43294	0.95;0.95	5.03	2.54	0.30619	.	.	.	.	.	T	0.31009	0.0783	.	.	.	0.18873	N	0.999981	B	0.18968	0.032	B	0.15870	0.014	T	0.22906	-1.0203	8	0.54805	T	0.06	.	8.2725	0.31853	0.7248:0.1489:0.0:0.1263	.	904	F5H2M7	.	R	819;904	ENSP00000444465:H819R;ENSP00000433548:H904R	ENSP00000433548:H904R	H	+	2	0	WNK1	847609	1.000000	0.71417	0.265000	0.24526	0.497000	0.33675	1.962000	0.40442	0.324000	0.23333	0.383000	0.25322	CAT		0.458	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		G	977348	A	G	977348	1	3	602	0	1	0	0	0	0	0	0	0	17382	217	8	3		3	WNK1	12	977348	Intron	SNP	A	TCGA-CZ-5470-01A-01D-1501-10		977348	132874547	36	33035											
ZNF385A	25946	hgsc.bcm.edu;ucsc.edu	37	12	54764794	54764794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr12:54764794delC	ENST00000338010.5	-	6	804	c.751delG	c.(751-753)gaafs	p.E251fs	ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551771.1_Frame_Shift_Del_p.E150fs|ZNF385A_ENST00000551109.1_Frame_Shift_Del_p.E231fs|ZNF385A_ENST00000352268.6_Frame_Shift_Del_p.E170fs|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000394313.2_Frame_Shift_Del_p.E231fs|ZNF385A_ENST00000546970.1_Frame_Shift_Del_p.E231fs	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	251	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GCCTCTGGTTCCCCCGGGGTG	0.592																																																0													77	87	83					12																	54764794		2203	4300	6503	SO:0001589	frameshift_variant	25946			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"zinc finger protein 385"	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.751delG	12.37:g.54764794delC	ENSP00000338927:p.Glu251fs		B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Frame_Shift_Del	DEL	ENST00000338010.5	37	CCDS44911.1																																																																																				0.592	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481		-	54764794	C	-	54764794	7	5	602	1	0	1	0	1	0	0	0	0	17881	864	30	0	421	0	ZNF385A	12	54764794	Frame_Shift_Del	DEL	C	TCGA-CZ-5470-01A-01D-1501-10	53787446	54764794	79087101	37	33036											
GALNT9	50614	broad.mit.edu	37	12	132682466	132682466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr12:132682466delC	ENST00000328957.8	-	10	1535	c.1536delG	c.(1534-1536)gggfs	p.G512fs	GALNT9_ENST00000397325.2_Frame_Shift_Del_p.G146fs|GALNT9_ENST00000541995.1_Frame_Shift_Del_p.G146fs|GALNT9_ENST00000535228.1_Frame_Shift_Del_p.G263fs	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	512	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		AGCCCAGAGGCCCCAGCTGCA	0.657																																					Colon(186;2147 2752 13553 41466)											0													21	28	25					12																	132682466		2142	4246	6388	SO:0001589	frameshift_variant	50614			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1536delG	12.37:g.132682466delC	ENSP00000329846:p.Gly512fs		Q52LR8|Q6NT54|Q8NFR1	Frame_Shift_Del	DEL	ENST00000328957.8	37																																																																																					0.657	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		-	132682466	C	-	132682466	7	5	602	1	0	1	0	1	0	0	0	0	6222	726	26	0	283	0	GALNT9	12	132682466	Frame_Shift_Del	DEL	C	TCGA-CZ-5470-01A-01D-1501-10	77917672	132682466	1169429	38	33037											
PLEKHO2	80301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65157277	65157277	+	Silent	SNP	G	G	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr15:65157277G>A	ENST00000323544.4	+	6	791	c.663G>A	c.(661-663)agG>agA	p.R221R	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	221	Pro-rich.							p.R221R(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGTGACAGGGTGGAGACCC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											65	73	70					15																	65157277		2202	4299	6501	SO:0001819	synonymous_variant	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.663G>A	15.37:g.65157277G>A			Q7L4H4|Q8WYS8	Silent	SNP	ENST00000323544.4	37	CCDS10196.1																																																																																				0.627	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		A	65157277	G	A	65157277	2	1	602	1	0	0	0	0	0	0	0	1	12087	1223	43	2		2	PLEKHO2	15	65157277	Silent	SNP	G	TCGA-CZ-5470-01A-01D-1501-10		65157277	37374115	39	33038											
ARIH1	25820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72847625	72847625	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr15:72847625T>G	ENST00000379887.4	+	4	916	c.602T>G	c.(601-603)cTt>cGt	p.L201R		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	201	Interaction with UBE2L3.				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L201R(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TTCACTGGCCTTGAATGTGGA	0.353																																																1	Substitution - Missense(1)	kidney(1)											137	130	132					15																	72847625		2198	4297	6495	SO:0001583	missense	25820			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.602T>G	15.37:g.72847625T>G	ENSP00000369217:p.Leu201Arg		B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.838376	0.51057	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.86694	-2.16	5.22	5.22	0.72569	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96451	0.9334	10	0.87932	D	0	.	15.0391	0.71774	0.0:0.0:0.0:1.0	.	201	Q9Y4X5	ARI1_HUMAN	R	201;171	ENSP00000369217:L201R	ENSP00000299305:L171R	L	+	2	0	ARIH1	70634679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.091000	0.63221	0.477000	0.44152	CTT		0.353	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		G	72847625	T	G	72847625	3	3	602	1	0	0	0	0	1	0	0	0	923	1609	56	5	616	5	ARIH1	15	72847625	Missense_Mutation	SNP	T	TCGA-CZ-5470-01A-01D-1501-10	7690348	72847625	29683767	40	33039											
DAPK3	1613	hgsc.bcm.edu;ucsc.edu	37	19	3964350	3964350	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr19:3964350C>T	ENST00000545797.2	-	4	688	c.445G>A	c.(445-447)Gac>Aac	p.D149N	DAPK3_ENST00000301264.3_Missense_Mutation_p.D149N|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTTCTTGTCCAGCAGCATG	0.617																																																0													203	115	145					19																	3964350		2203	4300	6503	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.445G>A	19.37:g.3964350C>T	ENSP00000442973:p.Asp149Asn		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055780	0.76074	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	T;T	0.64085	-0.08;-0.08	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055925	0.64402	D	0.000002	T	0.51890	0.1701	L	0.28054	0.825	0.80722	D	1	B	0.20988	0.05	B	0.27796	0.083	T	0.44982	-0.9292	10	0.15499	T	0.54	.	18.3088	0.90192	0.0:1.0:0.0:0.0	.	149	O43293	DAPK3_HUMAN	N	149;149;4	ENSP00000301264:D149N;ENSP00000442973:D149N	ENSP00000301264:D149N	D	-	1	0	DAPK3	3915350	1.000000	0.71417	0.996000	0.52242	0.551000	0.35334	5.807000	0.69157	2.572000	0.86782	0.549000	0.68633	GAC		0.617	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		T	3964350	C	T	3964350	3	4	602	1	0	0	0	0	1	0	0	0	4239	855	30	2	943	2	DAPK3	19	3964350	Missense_Mutation	SNP	C	TCGA-CZ-5470-01A-01D-1501-10		3964350	55164633	41	33040											
GZF1	64412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	23350858	23350858	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr20:23350858T>G	ENST00000338121.5	+	6	1993	c.1916T>G	c.(1915-1917)cTg>cGg	p.L639R	GZF1_ENST00000377051.2_Missense_Mutation_p.L639R|GZF1_ENST00000542987.1_Missense_Mutation_p.L148R|GZF1_ENST00000544236.1_Missense_Mutation_p.L163R			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	639					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.L639R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GATAAATTGCTGTCTTTTGCA	0.488																																																1	Substitution - Missense(1)	kidney(1)											109	87	94					20																	23350858		2203	4300	6503	SO:0001583	missense	64412			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1916T>G	20.37:g.23350858T>G	ENSP00000338290:p.Leu639Arg		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975989	0.53720	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.10960	2.98;2.82;3.28;2.82	5.77	5.77	0.91146	.	0.000000	0.43579	D	0.000560	T	0.19685	0.0473	L	0.34521	1.04	0.46222	D	0.998937	D	0.76494	0.999	D	0.65233	0.933	T	0.03695	-1.1012	10	0.24483	T	0.36	.	13.8281	0.63363	0.0:0.0:0.0:1.0	.	639	Q9H116	GZF1_HUMAN	R	163;639;148;639	ENSP00000445458:L163R;ENSP00000338290:L639R;ENSP00000445118:L148R;ENSP00000366250:L639R	ENSP00000338290:L639R	L	+	2	0	GZF1	23298858	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	3.546000	0.53656	2.202000	0.70862	0.533000	0.62120	CTG		0.488	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		G	23350858	T	G	23350858	3	3	602	1	0	0	0	0	1	0	0	0	6916	1580	55	5	1934	5	GZF1	20	23350858	Missense_Mutation	SNP	T	TCGA-CZ-5470-01A-01D-1501-10		23350858	39674662	42	33041											
CHMP4B	128866	hgsc.bcm.edu;ucsc.edu	37	20	32436409	32436409	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr20:32436409delG	ENST00000217402.2	+	2	492	c.327delG	c.(325-327)atgfs	p.M109fs		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	109					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TCAAGAACATGGGCTATGCCG	0.607																																																0													116	73	87					20																	32436409		2203	4300	6503	SO:0001589	frameshift_variant	128866			AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"Charged multivesicular body proteins"	16171	protein-coding gene	gene with protein product		610897	"chromosome 20 open reading frame 178", "chromatin modifying protein 4B"	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.327delG	20.37:g.32436409delG	ENSP00000217402:p.Met109fs		E1P5N4|Q53ZD6	Frame_Shift_Del	DEL	ENST00000217402.2	37	CCDS13228.1																																																																																				0.607	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			-	32436409	G	-	32436409	7	5	602	1	0	1	0	1	0	0	0	0	3359	1348	47	0	333	0	CHMP4B	20	32436409	Frame_Shift_Del	DEL	G	TCGA-CZ-5470-01A-01D-1501-10	9085551	32436409	30589111	43	33042											
CACNA1I	8911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40062013	40062013	+	Splice_Site	SNP	T	T	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chr22:40062013T>A	ENST00000402142.3	+	23	4104		c.e23+2		CACNA1I_ENST00000404898.1_Splice_Site|CACNA1I_ENST00000407673.1_Splice_Site|CACNA1I_ENST00000401624.1_Splice_Site|CACNA1I_ENST00000336649.4_Splice_Site|CACNA1I_ENST00000400164.3_Splice_Site	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGGGCCAGGTGAGCACCACC	0.602																																																2	Unknown(2)	kidney(2)											69	72	71					22																	40062013		2144	4231	6375	SO:0001630	splice_region_variant	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4104+2T>A	22.37:g.40062013T>A			B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Splice_Site	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129275	0.77549	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0379	0.42139	0.1506:0.0:0.0:0.8494	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1I	38391959	1.000000	0.71417	0.990000	0.47175	0.878000	0.50629	6.206000	0.72154	1.560000	0.49568	0.379000	0.24179	.		0.602	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	Intron	A	40062013	T	A	40062013	5	1	602	1	0	0	0	0	0	0	1	0	2548	1710	59	5	4196	5	CACNA1I	22	40062013	Splice_Site	SNP	T	TCGA-CZ-5470-01A-01D-1501-10		40062013	11242553	44	33043											
NDP	4693	broad.mit.edu;ucsc.edu	37	X	43809267	43809267	+	Silent	SNP	C	C	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chrX:43809267C>A	ENST00000378062.5	-	3	587	c.180G>T	c.(178-180)gtG>gtT	p.V60V	NDP_ENST00000470584.1_5'UTR|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	60	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.		V -> E (in ND; reduction of protein amount in the extracellular matrix). {ECO:0000269|PubMed:1303264}.		canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)	p.V60V(1)		kidney(1)|lung(2)	3						TGGCCAGGAGCACCATCTGGG	0.567											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											31	25	27					X																	43809267		2198	4297	6495	SO:0001819	synonymous_variant	4693			X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"Endogenous ligands"	7678	protein-coding gene	gene with protein product		300658	"exudative vitreoretinopathy 2 (X-linked)"	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.180G>T	X.37:g.43809267C>A		919	B2R8K6|Q5JYH5	Silent	SNP	ENST00000378062.5	37	CCDS14262.1																																																																																				0.567	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	NM_000266		A	43809267	C	A	43809267	2	1	602	1	0	0	0	0	0	0	0	1	10252	697	25	4		4	NDP	23	43809267	Silent	SNP	C	TCGA-CZ-5470-01A-01D-1501-10		43809267	111461293	45	33044											
CCDC120	90060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48923285	48923285	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chrX:48923285C>T	ENST00000376396.3	+	9	1084	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	CCDC120_ENST00000536628.2_Missense_Mutation_p.R277C|CCDC120_ENST00000597275.1_Missense_Mutation_p.R289C|CCDC120_ENST00000422185.2_Missense_Mutation_p.R289C|CCDC120_ENST00000603986.1_Missense_Mutation_p.R324C|CCDC120_ENST00000496529.2_Missense_Mutation_p.R289C	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	289								p.R289C(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						TAGCCCCACACGCTCGCTGCC	0.647																																																1	Substitution - Missense(1)	kidney(1)											40	25	30					X																	48923285		2166	4227	6393	SO:0001583	missense	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.865C>T	X.37:g.48923285C>T	ENSP00000365577:p.Arg289Cys		B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699162	0.68501	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.47	4.56	0.56223	.	0.052500	0.85682	D	0.000000	T	0.69744	0.3145	L	0.55990	1.75	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.982;0.988;0.988;0.988	T	0.72367	-0.4315	9	0.87932	D	0	-27.394	12.4219	0.55524	0.1667:0.8333:0.0:0.0	.	277;324;277;289	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	C	289;289;277	.	ENSP00000365577:R289C	R	+	1	0	CCDC120	48810229	0.894000	0.30519	1.000000	0.80357	0.963000	0.63663	1.302000	0.33459	2.426000	0.82243	0.600000	0.82982	CGC		0.647	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		T	48923285	C	T	48923285	3	4	602	1	0	0	0	0	1	0	0	0	2758	536	19	1	891	1	CCDC120	23	48923285	Missense_Mutation	SNP	C	TCGA-CZ-5470-01A-01D-1501-10	5114018	48923285	106347275	46	33045											
TRO	7216	hgsc.bcm.edu	37	X	54949288	54949289	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chrX:54949288_54949289insC	ENST00000173898.7	+	3	435_436	c.323_324insC	c.(322-327)aacctgfs	p.L109fs	TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000319167.8_Frame_Shift_Ins_p.L109fs|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Frame_Shift_Ins_p.L109fs|TRO_ENST00000484031.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	109					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CAGGCTTTAAACCTGCCAGTCA	0.49																																																0																																										SO:0001589	frameshift_variant	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.325dupC	X.37:g.54949290_54949290dupC	ENSP00000173898:p.Leu109fs		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Frame_Shift_Ins	INS	ENST00000173898.7	37	CCDS43959.1																																																																																				0.49	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		C	54949289	-	C	54949288	7	5	602	1	0	1	1	0	0	0	0	0	16579	43	2	0	329	0	TRO	23	54949288	Frame_Shift_Ins	INS	-	TCGA-CZ-5470-01A-01D-1501-10	6026003	54949288	100321272	47	33046											
TAF1	6872	broad.mit.edu	37	X	70607246	70607246	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chrX:70607246C>T	ENST00000373790.4	+	15	2410	c.2359C>T	c.(2359-2361)Ccc>Tcc	p.P787S	TAF1_ENST00000276072.3_Missense_Mutation_p.P808S|TAF1_ENST00000423759.1_Missense_Mutation_p.P808S|TAF1_ENST00000449580.1_Missense_Mutation_p.P787S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	787	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P808S(1)|p.P787S(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCAGCAGTGTCCCTTGTTTGA	0.443																																																2	Substitution - Missense(2)	kidney(2)											130	118	122					X																	70607246		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2359C>T	X.37:g.70607246C>T	ENSP00000362895:p.Pro787Ser		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	14.79	2.640167	0.47153	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.7	4.7	0.59300	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.153774	0.64402	D	0.000013	T	0.46328	0.1387	H	0.95402	3.665	0.58432	D	0.999996	P;B	0.42941	0.794;0.384	P;B	0.48227	0.571;0.426	T	0.60291	-0.7292	10	0.72032	D	0.01	.	11.688	0.51499	0.0:0.9112:0.0:0.0888	.	787;808	P21675;P21675-2	TAF1_HUMAN;.	S	787;787;808;808	ENSP00000362895:P787S;ENSP00000389000:P787S;ENSP00000406549:P808S;ENSP00000276072:P808S	ENSP00000276072:P808S	P	+	1	0	TAF1	70523971	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.618000	0.61211	2.070000	0.61991	0.458000	0.33432	CCC		0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		T	70607246	C	T	70607246	3	4	602	1	0	0	0	0	1	0	0	0	15518	855	30	2	2480	2	TAF1	23	70607246	Missense_Mutation	SNP	C	TCGA-CZ-5470-01A-01D-1501-10	15657958	70607246	84663314	48	33047											
MAGEC1	9947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	140993373	140993373	+	Silent	SNP	G	G	A			TCGA-CZ-5470-01A-01D-1501-10	TCGA-CZ-5470-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9a7ca9e-c36e-46c1-926f-4a57a0584cb0	d0636c20-cd70-4fdf-b273-4756d9effbf1	g.chrX:140993373G>A	ENST00000285879.4	+	4	469	c.183G>A	c.(181-183)gaG>gaA	p.E61E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	61								p.E61D(1)|p.E61E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGGGGGAGGACTCCTCGG	0.602										HNSCC(15;0.026)																																						2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)											79	80	80					X																	140993373		2203	4300	6503	SO:0001819	synonymous_variant	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.183G>A	X.37:g.140993373G>A			A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	CCDS35417.1																																																																																				0.602	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140993373	G	A	140993373	2	1	602	1	0	0	0	0	0	0	0	1	9182	991	35	2		2	MAGEC1	23	140993373	Silent	SNP	G	TCGA-CZ-5470-01A-01D-1501-10	70386127	140993373	14277187	49	33048											
EXOSC10	5394	hgsc.bcm.edu;ucsc.edu	37	1	11147603	11147603	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr1:11147603delT	ENST00000376936.4	-	9	1040	c.991delA	c.(991-993)attfs	p.I331fs	EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.I331fs|EXOSC10_ENST00000544779.1_Frame_Shift_Del_p.I331fs	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	331					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CGAGTAGAAATTTGCATCAGG	0.468																																					Colon(179;105 1987 14326 27364 29542)											0													173	176	175					1																	11147603		2203	4300	6503	SO:0001589	frameshift_variant	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.991delA	1.37:g.11147603delT	ENSP00000366135:p.Ile331fs		B1AKQ0|B1AKQ1|Q15158	Frame_Shift_Del	DEL	ENST00000376936.4	37	CCDS30584.1																																																																																				0.468	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		-	11147603	T	-	11147603	7	5	603	1	0	1	0	1	0	0	0	0	5316	1493	52	0	1734	0	EXOSC10	1	11147603	Frame_Shift_Del	DEL	T	TCGA-CZ-5982-01A-11D-1669-08		11147603	238103018	1	33049											
HSPG2	3339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22178652	22178652	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr1:22178652C>T	ENST00000374695.3	-	53	6878	c.6799G>A	c.(6799-6801)Gtg>Atg	p.V2267M	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2267	Ig-like C2-type 8.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.V2267M(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCTGCCACCACGCAGCTCAGA	0.657																																																1	Substitution - Missense(1)	kidney(1)											48	47	47					1																	22178652		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6799G>A	1.37:g.22178652C>T	ENSP00000363827:p.Val2267Met		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128665	0.56721	.	.	ENSG00000142798	ENST00000374695	T	0.67171	-0.25	5.48	3.49	0.39957	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.230767	0.21879	N	0.067762	T	0.62660	0.2446	L	0.33710	1.025	0.30047	N	0.812067	P;P	0.50710	0.938;0.904	P;B	0.49421	0.61;0.354	T	0.63355	-0.6656	10	0.44086	T	0.13	.	13.4744	0.61299	0.0:0.7001:0.2999:0.0	.	207;2267	Q59EG0;P98160	.;PGBM_HUMAN	M	2267	ENSP00000363827:V2267M	ENSP00000363827:V2267M	V	-	1	0	HSPG2	22051239	0.000000	0.05858	0.994000	0.49952	0.977000	0.68977	-0.380000	0.07427	1.311000	0.45024	0.561000	0.74099	GTG		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		T	22178652	C	T	22178652	3	4	603	1	0	0	0	0	1	0	0	0	7432	536	19	1	6556	1	HSPG2	1	22178652	Missense_Mutation	SNP	C	TCGA-CZ-5982-01A-11D-1669-08	11031049	22178652	227071969	2	33050											
RNF115	27246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	145684607	145684607	+	Missense_Mutation	SNP	C	C	G	rs377184933		TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr1:145684607C>G	ENST00000369291.5	+	7	800	c.596C>G	c.(595-597)aCa>aGa	p.T199R		NM_014455.2	NP_055270.1			ring finger protein 115									p.T199R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CTGGAAAACACAGGCCCTCCC	0.433																																																1	Substitution - Missense(1)	kidney(1)											79	79	79					1																	145684607		2203	4300	6503	SO:0001583	missense	27246			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"RING-type (C3HC4) zinc fingers"	18154	protein-coding gene	gene with protein product			"zinc finger protein 364"	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.596C>G	1.37:g.145684607C>G	ENSP00000358297:p.Thr199Arg			Missense_Mutation	SNP	ENST00000369291.5	37	CCDS922.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713353	0.89112	.	.	ENSG00000121848	ENST00000369291	T	0.12672	2.66	5.2	5.2	0.72013	.	0.051402	0.85682	D	0.000000	T	0.10252	0.0251	L	0.41573	1.285	0.80722	D	1	P	0.50272	0.933	P	0.49665	0.618	T	0.17077	-1.0381	10	0.18710	T	0.47	-9.1469	16.28	0.82672	0.0:1.0:0.0:0.0	.	199	Q9Y4L5	RN115_HUMAN	R	199	ENSP00000358297:T199R	ENSP00000358297:T199R	T	+	2	0	RNF115	144395964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.195000	0.77798	2.691000	0.91804	0.655000	0.94253	ACA		0.433	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		G	145684607	C	G	145684607	3	3	603	1	0	0	0	0	1	0	0	0	13436	478	17	4	622	4	RNF115	1	145684607	Missense_Mutation	SNP	C	TCGA-CZ-5982-01A-11D-1669-08	123505955	145684607	103566014	3	33051											
C1orf110	339512	broad.mit.edu;ucsc.edu	37	1	162824983	162824983	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr1:162824983C>T	ENST00000367910.1	-	4	601	c.481G>A	c.(481-483)Gat>Aat	p.D161N	C1orf110_ENST00000367911.2_Missense_Mutation_p.D156N|C1orf110_ENST00000367912.2_Missense_Mutation_p.D160N|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	161								p.D161N(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TTCACAGAATCTTTCTCTTGG	0.468																																																1	Substitution - Missense(1)	kidney(1)											263	252	256					1																	162824983		1905	4129	6034	SO:0001583	missense	339512			BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.481G>A	1.37:g.162824983C>T	ENSP00000356886:p.Asp161Asn		Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583705	0.46006	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.22	2.32	0.28847	.	1.170210	0.06261	N	0.693865	T	0.12220	0.0297	L	0.27053	0.805	0.26313	N	0.977794	P;P	0.41131	0.739;0.739	B;B	0.40602	0.334;0.334	T	0.15780	-1.0425	8	0.59425	D	0.04	-2.3888	4.67	0.12683	0.2176:0.6716:0.0:0.1108	.	160;161	Q86UF4-2;Q86UF4	.;CA110_HUMAN	N	160;156;161	.	ENSP00000356886:D161N	D	-	1	0	C1orf110	161091607	0.000000	0.05858	0.003000	0.11579	0.131000	0.20780	0.463000	0.21972	1.091000	0.41335	0.655000	0.94253	GAT		0.468	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		T	162824983	C	T	162824983	3	4	603	1	0	0	0	0	1	0	0	0	1985	913	32	2	431	2	C1orf110	1	162824983	Missense_Mutation	SNP	C	TCGA-CZ-5982-01A-11D-1669-08	17140376	162824983	86425638	4	33052											
SMG7	9887	broad.mit.edu;ucsc.edu	37	1	183515189	183515189	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr1:183515189A>T	ENST00000347615.2	+	17	2578	c.2459A>T	c.(2458-2460)tAc>tTc	p.Y820F	SMG7_ENST00000515829.2_Missense_Mutation_p.Y774F|SMG7_ENST00000456731.2_Missense_Mutation_p.Y732F|SMG7_ENST00000367537.3_Missense_Mutation_p.Y803F|SMG7_ENST00000508461.1_Missense_Mutation_p.Y778F|SMG7_ENST00000507469.1_Missense_Mutation_p.Y774F	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	820	Gln/Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.Y820F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAACAGCCCTACTACCTTCAG	0.463																																																1	Substitution - Missense(1)	kidney(1)											78	86	83					1																	183515189		2203	4300	6503	SO:0001583	missense	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2459A>T	1.37:g.183515189A>T	ENSP00000340766:p.Tyr820Phe		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.671437	0.29693	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.22336	2.28;2.26;2.26;1.96;2.26;2.25;2.28	5.62	4.47	0.54385	.	0.586968	0.18821	N	0.130241	T	0.10723	0.0262	N	0.11560	0.145	0.43512	D	0.995775	B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0;0.001	T	0.09796	-1.0658	10	0.10377	T	0.69	-1.3608	11.6948	0.51538	0.9302:0.0:0.0698:0.0	.	778;803;732;774;820;774	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	F	732;803;778;732;820;774;774	ENSP00000407629:Y732F;ENSP00000356507:Y803F;ENSP00000426915:Y778F;ENSP00000388390:Y732F;ENSP00000340766:Y820F;ENSP00000425133:Y774F;ENSP00000421358:Y774F	ENSP00000340766:Y820F	Y	+	2	0	SMG7	181781812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.670000	0.61583	0.921000	0.36994	0.533000	0.62120	TAC		0.463	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		T	183515189	A	T	183515189	3	4	603	1	0	0	0	0	1	0	0	0	14804	391	14	5	2525	5	SMG7	1	183515189	Missense_Mutation	SNP	A	TCGA-CZ-5982-01A-11D-1669-08	20690206	183515189	65735432	5	33053											
UGT1A4	54657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234627516	234627516	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr2:234627516T>C	ENST00000373409.3	+	1	93	c.50T>C	c.(49-51)cTg>cCg	p.L17P	UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	17					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L17P(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	ACAGGACTGCTGCTCCTCCTC	0.657											OREG0003834	type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Melanoma(99;1011 1962 13201 26492)											1	Substitution - Missense(1)	kidney(1)											49	48	49					2																	234627516		2203	4300	6503	SO:0001583	missense	54657			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.50T>C	2.37:g.234627516T>C	ENSP00000362508:p.Leu17Pro	2375	B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.886145	0.72410	.	.	ENSG00000244474	ENST00000373409	T	0.64085	-0.08	4.14	4.14	0.48551	.	.	.	.	.	T	0.77398	0.4124	M	0.74467	2.265	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.79784	0.993;0.959	T	0.80826	-0.1209	9	0.87932	D	0	.	13.4335	0.61071	0.0:0.0:0.0:1.0	.	17;17	B8K288;P22310	.;UD14_HUMAN	P	17	ENSP00000362508:L17P	ENSP00000362508:L17P	L	+	2	0	UGT1A4	234292255	0.031000	0.19500	0.037000	0.18230	0.131000	0.20780	2.353000	0.44089	1.621000	0.50320	0.402000	0.26972	CTG		0.657	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		C	234627516	T	C	234627516	3	2	603	1	0	0	0	0	1	0	0	0	16952	1580	55	3	52	3	UGT1A4	2	234627516	Missense_Mutation	SNP	T	TCGA-CZ-5982-01A-11D-1669-08		234627516	8571857	6	33054											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10191499	10191499	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr3:10191499delG	ENST00000256474.2	+	3	1332	c.492delG	c.(490-492)cagfs	p.Q164fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.Q123fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	164	Interaction with Elongin BC complex.		Q -> H (in VHLD).|Q -> R (in VHLD; type II). {ECO:0000269|PubMed:8825918, ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q164H(3)|p.Q164fs*9(2)|p.V165fs*5(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GATGCCTCCAGGTTGTCCGGA	0.507		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	6	Substitution - Missense(3)|Deletion - Frameshift(3)	kidney(4)|adrenal_gland(2)	GRCh37	CM031757|CM074631	VHL	M							92	83	86					3																	10191499		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.492delG	3.37:g.10191499delG	ENSP00000256474:p.Gln164fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10191499	G	-	10191499	7	5	603	1	0	1	0	1	0	0	0	0	17167	991	35	0	502	0	VHL	3	10191499	Frame_Shift_Del	DEL	G	TCGA-CZ-5982-01A-11D-1669-08		10191499	187830931	7	33055											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52598158	52598158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr3:52598158G>T	ENST00000296302.7	-	23	3784	c.3783C>A	c.(3781-3783)taC>taA	p.Y1261*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y1276*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y1261*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y1276*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y1236*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y1261*|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Y1229*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y1236*			Q86U86	PB1_HUMAN	polybromo 1	1261	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y1261*(2)|p.Y1229*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CGCTCTCATTGTAGCGGCTCT	0.418			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											109	107	108					3																	52598158		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3783C>A	3.37:g.52598158G>T	ENSP00000296302:p.Tyr1261*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	40	8.478808	0.98829	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.05	1.17	0.20885	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0515	9.2637	0.37627	0.372:0.0:0.628:0.0	.	.	.	.	X	1229;1236;1261;1261;1261;1236;1276;1276;1260	.	ENSP00000296302:Y1261X	Y	-	3	2	PBRM1	52573198	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.255000	0.32909	0.524000	0.28502	0.655000	0.94253	TAC		0.418	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		T	52598158	G	T	52598158	4	4	603	1	0	0	0	0	0	1	0	0	11493	1372	48	4	1149	4	PBRM1	3	52598158	Nonsense_Mutation	SNP	G	TCGA-CZ-5982-01A-11D-1669-08	42406659	52598158	145424272	8	33056											
APPL1	26060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	57283562	57283562	+	Silent	SNP	T	T	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr3:57283562T>A	ENST00000288266.3	+	11	1185	c.1038T>A	c.(1036-1038)tcT>tcA	p.S346S		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	346	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.S346S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGATCACCTCTTTCGATGGAA	0.368																																																1	Substitution - coding silent(1)	kidney(1)											130	121	124					3																	57283562		2203	4300	6503	SO:0001819	synonymous_variant	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1038T>A	3.37:g.57283562T>A			Q9P2B9	Silent	SNP	ENST00000288266.3	37	CCDS2882.1																																																																																				0.368	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		A	57283562	T	A	57283562	2	1	603	1	0	0	0	0	0	0	0	1	817	1596	56	5		5	APPL1	3	57283562	Silent	SNP	T	TCGA-CZ-5982-01A-11D-1669-08	4685404	57283562	140738868	9	33057											
TOPBP1	11073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	133342007	133342007	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr3:133342007C>T	ENST00000260810.5	-	19	3237	c.3106G>A	c.(3106-3108)Gta>Ata	p.V1036I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1036					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.V1036I(1)|p.V949I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ATATTGTCTACATCATTTTCT	0.284								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)											2	Substitution - Missense(2)	kidney(2)											38	36	37					3																	133342007		1808	4060	5868	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3106G>A	3.37:g.133342007C>T	ENSP00000260810:p.Val1036Ile		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	6.351	0.432937	0.12045	.	.	ENSG00000163781	ENST00000260810	T	0.11495	2.77	5.82	-4.7	0.03288	.	1.445680	0.03600	N	0.233264	T	0.05044	0.0135	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40813	-0.9543	10	0.36615	T	0.2	.	9.6138	0.39679	0.0:0.525:0.2153:0.2597	.	949;1036	A0AV47;Q92547	.;TOPB1_HUMAN	I	1036	ENSP00000260810:V1036I	ENSP00000260810:V1036I	V	-	1	0	TOPBP1	134824697	0.000000	0.05858	0.001000	0.08648	0.581000	0.36288	-1.163000	0.03138	-0.732000	0.04856	0.655000	0.94253	GTA		0.284	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		T	133342007	C	T	133342007	3	4	603	1	0	0	0	0	1	0	0	0	16374	478	17	2	1502	2	TOPBP1	3	133342007	Missense_Mutation	SNP	C	TCGA-CZ-5982-01A-11D-1669-08	76058445	133342007	64680423	10	33058											
DLG1	1739	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196842954	196842954	+	Splice_Site	SNP	C	C	G			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr3:196842954C>G	ENST00000419354.1	-	14	1672	c.1386G>C	c.(1384-1386)agG>agC	p.R462S	DLG1_ENST00000450955.1_Splice_Site_p.R429S|DLG1_ENST00000392382.2_Splice_Site_p.R429S|DLG1_ENST00000448528.2_Splice_Site_p.R462S|DLG1_ENST00000357674.4_Splice_Site_p.R429S|DLG1_ENST00000346964.2_Splice_Site_p.R462S|DLG1_ENST00000452595.1_Splice_Site_p.R346S|DLG1_ENST00000314062.3_Splice_Site_p.R411S|DLG1_ENST00000422288.1_Splice_Site_p.R411S|DLG1_ENST00000443183.1_Splice_Site_p.R346S			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	462					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.R462S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTCTAGGTTCCCTAAAAATTA	0.318																																																1	Substitution - Missense(1)	kidney(1)											59	64	62					3																	196842954		2202	4299	6501	SO:0001630	splice_region_variant	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1386-1G>C	3.37:g.196842954C>G			A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343837	0.61073	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;2.26	5.2	4.33	0.51752	PDZ/DHR/GLGF (1);PDZ-associated domain of NMDA receptors (1);	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	L	0.56769	1.78	0.80722	D	1	B;B;B;B;B;B;B	0.33477	0.138;0.413;0.29;0.29;0.138;0.267;0.055	B;B;B;B;B;P;B	0.45119	0.066;0.292;0.305;0.305;0.121;0.47;0.084	T	0.46005	-0.9222	10	0.21540	T	0.41	.	13.0043	0.58694	0.0:0.922:0.0:0.078	.	429;346;346;346;429;462;462	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	S	462;462;429;462;411;462;346;411;462;346;429;429;271	ENSP00000345731:R462S;ENSP00000350303:R429S;ENSP00000321087:R411S;ENSP00000407531:R462S;ENSP00000398939:R346S;ENSP00000413238:R411S;ENSP00000391732:R462S;ENSP00000396658:R346S;ENSP00000376187:R429S;ENSP00000411278:R429S;ENSP00000398702:R271S	ENSP00000321087:R411S	R	-	3	2	DLG1	198327351	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.989000	0.40707	1.343000	0.45638	0.591000	0.81541	AGG		0.318	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087	Missense_Mutation	G	196842954	C	G	196842954	5	3	603	1	0	0	0	0	0	0	1	0	4556	637	22	4	1484	4	DLG1	3	196842954	Splice_Site	SNP	C	TCGA-CZ-5982-01A-11D-1669-08	63500947	196842954	1179476	11	33059											
ARSK	153642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	94918640	94918640	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr5:94918640C>A	ENST00000380009.4	+	4	642	c.437C>A	c.(436-438)aCa>aAa	p.T146K		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	146					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.T146K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GAAGCGTGGACAAGAGATGTT	0.388																																																1	Substitution - Missense(1)	kidney(1)											145	143	143					5																	94918640		2203	4300	6503	SO:0001583	missense	153642				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.437C>A	5.37:g.94918640C>A	ENSP00000369346:p.Thr146Lys		A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211907	0.95069	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.98602	-5.02	6.02	6.02	0.97574	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.76838	2.35	0.80722	D	1	D	0.57899	0.981	P	0.62885	0.908	D	0.98225	1.0480	10	0.19590	T	0.45	-22.2722	20.5373	0.99239	0.0:1.0:0.0:0.0	.	146	Q6UWY0	ARSK_HUMAN	K	146	ENSP00000369346:T146K	ENSP00000369346:T146K	T	+	2	0	ARSK	94944396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.085000	0.76875	2.857000	0.98124	0.650000	0.86243	ACA		0.388	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		A	94918640	C	A	94918640	3	1	603	1	0	0	0	0	1	0	0	0	996	478	17	4	451	4	ARSK	5	94918640	Missense_Mutation	SNP	C	TCGA-CZ-5982-01A-11D-1669-08		94918640	85996620	12	33060											
UBR2	23304	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	42604791	42604791	+	Silent	SNP	C	C	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr6:42604791C>T	ENST00000372899.1	+	15	1975	c.1717C>T	c.(1717-1719)Ctg>Ttg	p.L573L	UBR2_ENST00000372883.3_Silent_p.L77L|UBR2_ENST00000372901.1_Silent_p.L573L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	573					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L573L(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCTCGCTGTACTGATGCAGTG	0.373																																																1	Substitution - coding silent(1)	kidney(1)											163	145	151					6																	42604791		2203	4300	6503	SO:0001819	synonymous_variant	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1717C>T	6.37:g.42604791C>T			O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	CCDS4870.1																																																																																				0.373	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		T	42604791	C	T	42604791	2	4	603	1	0	0	0	0	0	0	0	1	16907	564	20	2		2	UBR2	6	42604791	Silent	SNP	C	TCGA-CZ-5982-01A-11D-1669-08		42604791	128510276	13	33061											
TCP10	6953	hgsc.bcm.edu	37	6	167789488	167789488	+	Silent	SNP	C	C	T	rs9355636	byFrequency	TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr6:167789488C>T	ENST00000397829.4	-	6	821	c.654G>A	c.(652-654)acG>acA	p.T218T	TCP10_ENST00000366827.2_Silent_p.T218T	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	245						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GCTCCTGCAGCGTGGTGGCCT	0.577																																																0													22	27	25					6																	167789488		1978	4165	6143	SO:0001819	synonymous_variant	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.654G>A	6.37:g.167789488C>T			Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	CCDS43527.1																																																																																				0.577	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		T	167789488	C	T	167789488	2	4	603	1	0	0	0	0	0	0	0	1	15715	755	27	1		1	TCP10	6	167789488	Silent	SNP	C	TCGA-CZ-5982-01A-11D-1669-08	125184697	167789488	3325579	14	33062											
MPP6	51678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	24720095	24720095	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr7:24720095C>T	ENST00000222644.5	+	11	1652	c.1402C>T	c.(1402-1404)Cac>Tac	p.H468Y	MPP6_ENST00000409761.1_Missense_Mutation_p.H356Y|MPP6_ENST00000396475.2_Missense_Mutation_p.H468Y			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.H468Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACGTGCCATGCACAAGGCTGT	0.433																																																1	Substitution - Missense(1)	kidney(1)											164	145	151					7																	24720095		2203	4300	6503	SO:0001583	missense	51678			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1402C>T	7.37:g.24720095C>T	ENSP00000222644:p.His468Tyr		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977567	0.53720	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	T;T;T	0.16457	2.34;2.34;2.34	5.43	5.43	0.79202	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.56097	D	0.000031	T	0.14570	0.0352	N	0.16266	0.395	0.80722	D	1	B	0.19331	0.035	B	0.28305	0.088	T	0.12142	-1.0559	10	0.26408	T	0.33	.	19.2417	0.93887	0.0:1.0:0.0:0.0	.	468	Q9NZW5	MPP6_HUMAN	Y	468;356;468	ENSP00000222644:H468Y;ENSP00000386262:H356Y;ENSP00000379737:H468Y	ENSP00000222644:H468Y	H	+	1	0	MPP6	24686620	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.541000	0.85698	0.561000	0.74099	CAC		0.433	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			T	24720095	C	T	24720095	3	4	603	1	0	0	0	0	1	0	0	0	9740	710	25	2	1440	2	MPP6	7	24720095	Missense_Mutation	SNP	C	TCGA-CZ-5982-01A-11D-1669-08		24720095	134418568	15	33063											
CDK13	8621	broad.mit.edu;hgsc.bcm.edu	37	7	39991366	39991366	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr7:39991366T>C	ENST00000181839.4	+	1	1731	c.1126T>C	c.(1126-1128)Tac>Cac	p.Y376H	CDK13_ENST00000340829.5_Missense_Mutation_p.Y376H|RP11-467D6.1_ENST00000569710.1_RNA	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	376					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.Y376H(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CCACAGCTCCTACGAGCGGGG	0.706																																																1	Substitution - Missense(1)	kidney(1)											23	23	23					7																	39991366		1935	3863	5798	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1126T>C	7.37:g.39991366T>C	ENSP00000181839:p.Tyr376His		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645971	0.47258	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.73152	-0.72;-0.72	4.15	4.15	0.48705	.	.	.	.	.	T	0.73860	0.3641	L	0.41492	1.28	0.41734	D	0.989577	D;D	0.69078	0.997;0.994	P;P	0.62184	0.899;0.796	T	0.73104	-0.4088	8	.	.	.	-3.3547	12.1053	0.53810	0.0:0.0:0.0:1.0	.	376;376	Q14004-2;Q14004	.;CDK13_HUMAN	H	376	ENSP00000181839:Y376H;ENSP00000340557:Y376H	.	Y	+	1	0	CDK13	39957891	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.942000	0.70203	1.626000	0.50381	0.374000	0.22700	TAC		0.706	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		C	39991366	T	C	39991366	3	2	603	1	0	0	0	0	1	0	0	0	3131	1522	53	3	1128	3	CDK13	7	39991366	Missense_Mutation	SNP	T	TCGA-CZ-5982-01A-11D-1669-08	15271271	39991366	119147297	16	33064											
FBXL13	222235	hgsc.bcm.edu;ucsc.edu	37	7	102665597	102665597	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr7:102665597delA	ENST00000313221.4	-	6	834	c.408delT	c.(406-408)tttfs	p.F136fs	FBXL13_ENST00000393772.2_Frame_Shift_Del_p.F136fs|FBXL13_ENST00000379308.3_Frame_Shift_Del_p.F136fs|FBXL13_ENST00000379305.3_Frame_Shift_Del_p.F136fs|FBXL13_ENST00000379306.3_Frame_Shift_Del_p.F136fs|FBXL13_ENST00000455112.2_Frame_Shift_Del_p.F136fs|FBXL13_ENST00000456695.1_Frame_Shift_Del_p.F136fs|FBXL13_ENST00000436908.1_Frame_Shift_Del_p.F136fs|FBXL13_ENST00000471074.1_5'UTR	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	136										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTCGTTCAGGAAAATTGGATT	0.303																																																0													56	54	55					7																	102665597		2201	4298	6499	SO:0001589	frameshift_variant	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.408delT	7.37:g.102665597delA	ENSP00000321927:p.Phe136fs		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Frame_Shift_Del	DEL	ENST00000313221.4	37	CCDS5726.1																																																																																				0.303	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		-	102665597	A	-	102665597	7	5	603	1	0	1	0	1	0	0	0	0	5711	243	9	0	1859	0	FBXL13	7	102665597	Frame_Shift_Del	DEL	A	TCGA-CZ-5982-01A-11D-1669-08	62674231	102665597	56473066	17	33065											
EBF2	64641	broad.mit.edu	37	8	25899690	25899690	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr8:25899690A>G	ENST00000520164.1	-	2	746	c.209T>C	c.(208-210)gTc>gCc	p.V70A	EBF2_ENST00000408929.3_5'Flank	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	70					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V70A(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GAGCGCCAGGACGAAGTGAAA	0.582																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											2	Substitution - Missense(2)	kidney(2)											70	79	76					8																	25899690		2182	4296	6478	SO:0001583	missense	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.209T>C	8.37:g.25899690A>G	ENSP00000430241:p.Val70Ala		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	A	33	5.286967	0.95517	.	.	ENSG00000221818	ENST00000520164	T	0.58940	0.3	5.02	5.02	0.67125	.	0.000000	0.64402	U	0.000003	T	0.75895	0.3912	M	0.86178	2.8	0.80722	D	1	D	0.69078	0.997	P	0.61592	0.891	T	0.81127	-0.1074	10	0.87932	D	0	-10.4056	14.9071	0.70727	1.0:0.0:0.0:0.0	.	70	Q9HAK2	COE2_HUMAN	A	70	ENSP00000430241:V70A	ENSP00000430241:V70A	V	-	2	0	EBF2	25955607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	2.128000	0.65567	0.459000	0.35465	GTC		0.582	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		G	25899690	A	G	25899690	3	3	603	1	0	0	0	0	1	0	0	0	4883	275	10	3	1578	3	EBF2	8	25899690	Missense_Mutation	SNP	A	TCGA-CZ-5982-01A-11D-1669-08		25899690	120464332	18	33066											
ZNF395	55893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28206286	28206286	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr8:28206286A>G	ENST00000344423.5	-	10	1623	c.1492T>C	c.(1492-1494)Tgg>Cgg	p.W498R	ZNF395_ENST00000523095.1_Missense_Mutation_p.W498R|ZNF395_ENST00000523202.1_Missense_Mutation_p.W498R	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W498R(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GCCGTGCACCACTGGTCCCGG	0.617																																																1	Substitution - Missense(1)	kidney(1)											65	64	64					8																	28206286		2203	4300	6503	SO:0001583	missense	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1492T>C	8.37:g.28206286A>G	ENSP00000340494:p.Trp498Arg		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.967128	0.92855	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.35421	1.31;1.31;1.31	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70360	-0.4893	10	0.87932	D	0	-14.0604	14.0022	0.64439	1.0:0.0:0.0:0.0	.	498	Q9H8N7	ZN395_HUMAN	R	498	ENSP00000340494:W498R;ENSP00000429640:W498R;ENSP00000428452:W498R	ENSP00000340494:W498R	W	-	1	0	ZNF395	28262205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.960000	0.93117	2.197000	0.70478	0.528000	0.53228	TGG		0.617	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			G	28206286	A	G	28206286	3	3	603	1	0	0	0	0	1	0	0	0	17886	159	6	3	53	3	ZNF395	8	28206286	Missense_Mutation	SNP	A	TCGA-CZ-5982-01A-11D-1669-08	2306596	28206286	118157736	19	33067											
HMBOX1	79618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28906483	28906483	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr8:28906483T>A	ENST00000397358.3	+	10	1747	c.1043T>A	c.(1042-1044)cTg>cAg	p.L348Q	HMBOX1_ENST00000524238.1_Missense_Mutation_p.L347Q|HMBOX1_ENST00000444075.1_Missense_Mutation_p.L347Q|HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000558662.1_Missense_Mutation_p.L347Q|HMBOX1_ENST00000355231.5_Missense_Mutation_p.L347Q|HMBOX1_ENST00000519047.1_Missense_Mutation_p.L347Q|HMBOX1_ENST00000523613.1_Missense_Mutation_p.L348Q|RNA5SP260_ENST00000363849.1_RNA|HMBOX1_ENST00000287701.10_Missense_Mutation_p.L348Q	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	348					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L348Q(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GCAGCAATCCTGGAGAGTCAT	0.448																																																1	Substitution - Missense(1)	kidney(1)											162	158	159					8																	28906483		2203	4300	6503	SO:0001583	missense	79618			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"Homeoboxes / HNF class"	26137	protein-coding gene	gene with protein product	"homeobox telomere-binding protein 1"					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.1043T>A	8.37:g.28906483T>A	ENSP00000380516:p.Leu348Gln		A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	ENST00000397358.3	37	CCDS6071.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916607	0.73098	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	D;D;D;D;D	0.99894	-7.58;-7.5;-7.47;-7.58;-7.5	5.32	5.32	0.75619	Homeodomain-like (1);	0.082734	0.51477	D	0.000093	D	0.99691	0.9883	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;0.995;0.999	D;D;D;D;D;D	0.80764	0.994;0.986;0.984;0.974;0.979;0.963	D	0.97346	0.9960	10	0.35671	T	0.21	-3.9125	15.2709	0.73699	0.0:0.0:0.0:1.0	.	347;348;347;346;348;347	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	Q	348;347;347;348;347;346;347	ENSP00000287701:L348Q;ENSP00000401769:L347Q;ENSP00000430059:L347Q;ENSP00000380516:L348Q;ENSP00000430110:L347Q	ENSP00000287701:L348Q	L	+	2	0	HMBOX1	28962402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.371000	0.79600	1.999000	0.58509	0.533000	0.62120	CTG		0.448	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		A	28906483	T	A	28906483	3	1	603	1	0	0	0	0	1	0	0	0	7220	1580	55	5	1073	5	HMBOX1	8	28906483	Missense_Mutation	SNP	T	TCGA-CZ-5982-01A-11D-1669-08	700197	28906483	117457539	20	33068											
GPR124	25960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	37696506	37696506	+	Silent	SNP	C	C	T	rs147055217		TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr8:37696506C>T	ENST00000412232.2	+	15	2305	c.2292C>T	c.(2290-2292)ggC>ggT	p.G764G	GPR124_ENST00000315215.7_Silent_p.G547G	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	764					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G757G(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGTGGGGGGCGCCGGGGCAG	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17926	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	33	35	34		2292	3.5	0.8	8	dbSNP_134	34	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GPR124	NM_032777.9		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		764/1339	37696506	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2292C>T	8.37:g.37696506C>T			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	CCDS6097.2																																																																																				0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			T	37696506	C	T	37696506	2	4	603	1	0	0	0	0	0	0	0	1	6640	755	27	1		1	GPR124	8	37696506	Silent	SNP	C	TCGA-CZ-5982-01A-11D-1669-08	8790023	37696506	108667516	21	33069											
KIAA0146	23514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	48353095	48353095	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr8:48353095T>A	ENST00000297423.4	+	8	1472	c.1088T>A	c.(1087-1089)tTc>tAc	p.F363Y	SPIDR_ENST00000518074.1_Missense_Mutation_p.F303Y|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.F293Y	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	363	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.F363Y(1)									GTCCGGATCTTCCCTCCCTGG	0.517																																																1	Substitution - Missense(1)	kidney(1)											43	45	45					8																	48353095		1950	4149	6099	SO:0001583	missense	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1088T>A	8.37:g.48353095T>A	ENSP00000297423:p.Phe363Tyr		B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.141|6.141	0.394271|0.394271	0.11638|0.11638	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000524006|ENST00000519401	.|.	.|.	.|.	5.54|5.54	3.08|3.08	0.35506|0.35506	.|.	0.217327|.	0.40144|.	N|.	0.001168|.	T|T	0.17023|0.17023	0.0409|0.0409	N|N	0.04162|0.04162	-0.26|-0.26	0.29384|0.29384	N|N	0.863111|0.863111	B;B;B;B|.	0.11235|.	0.004;0.001;0.001;0.001|.	B;B;B;B|.	0.10450|.	0.005;0.004;0.003;0.004|.	T|T	0.24621|0.24621	-1.0155|-1.0155	9|5	0.05721|.	T|.	0.95|.	.|.	9.3269|9.3269	0.37999|0.37999	0.5814:0.0:0.0:0.4186|0.5814:0.0:0.0:0.4186	.|.	303;293;363;363|.	B4E0Y6;B4DFV2;B4DEV5;Q14159|.	.;.;.;K0146_HUMAN|.	Y|T	363;303;293;52|45	.|.	ENSP00000297423:F363Y|.	F|S	+|+	2|1	0|0	KIAA0146|KIAA0146	48515648|48515648	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.817000|0.817000	0.46193|0.46193	3.031000|3.031000	0.49728|0.49728	0.354000|0.354000	0.24105|0.24105	0.533000|0.533000	0.62120|0.62120	TTC|TCC		0.517	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		A	48353095	T	A	48353095	3	1	603	1	0	0	0	0	1	0	0	0	8159	1783	62	5	1118	5	KIAA0146	8	48353095	Missense_Mutation	SNP	T	TCGA-CZ-5982-01A-11D-1669-08	10656589	48353095	98010927	22	33070											
C9orf125	84302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104238212	104238212	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr9:104238212A>C	ENST00000374851.1	-	4	2310	c.1163T>G	c.(1162-1164)aTc>aGc	p.I388S	TMEM246_ENST00000374847.1_Missense_Mutation_p.I388S|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.I388S|RP11-490D19.6_ENST00000424154.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	388						integral component of membrane (GO:0016021)		p.I388S(1)									GAAGAGCCCGATGTGTTTCAC	0.522																																																1	Substitution - Missense(1)	kidney(1)											103	100	101					9																	104238212		2203	4300	6503	SO:0001583	missense	0			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1163T>G	9.37:g.104238212A>C	ENSP00000363984:p.Ile388Ser		Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211872	0.79240	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.68	5.68	0.88126	.	0.119765	0.56097	D	0.000026	T	0.64216	0.2578	M	0.64404	1.975	0.58432	D	0.999999	P	0.52061	0.95	P	0.49276	0.605	T	0.69202	-0.5207	9	0.87932	D	0	-8.0043	15.118	0.72419	1.0:0.0:0.0:0.0	.	388	Q9BRR3	CI125_HUMAN	S	388	.	ENSP00000363980:I388S	I	-	2	0	C9orf125	103278033	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	9.024000	0.93689	2.172000	0.68678	0.533000	0.62120	ATC		0.522	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		C	104238212	A	C	104238212	3	2	603	1	0	0	0	0	1	0	0	0	2456	333	12	5	52	5	C9orf125	9	104238212	Missense_Mutation	SNP	A	TCGA-CZ-5982-01A-11D-1669-08		104238212	36975219	23	33071											
PRKG1	5592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	53921672	53921672	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr10:53921672G>A	ENST00000401604.2	+	9	1174	c.980G>A	c.(979-981)gGg>gAg	p.G327E	PRKG1_ENST00000373985.1_Missense_Mutation_p.G315E|PRKG1_ENST00000373975.2_Missense_Mutation_p.G45E|PRKG1_ENST00000373980.4_Missense_Mutation_p.G342E			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	327	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.G342E(1)|p.G327E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTGATTGGAGGGCTGGATGAT	0.328																																																2	Substitution - Missense(2)	kidney(2)											161	152	155					10																	53921672		2203	4300	6503	SO:0001583	missense	5592				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.980G>A	10.37:g.53921672G>A	ENSP00000384200:p.Gly327Glu		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452392	0.63290	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193	T;T;T	0.27256	1.68;1.68;1.68	5.39	5.39	0.77823	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	N	0.16478	0.41	0.80722	D	1	B;P;P	0.45594	0.006;0.636;0.862	B;B;B	0.41946	0.025;0.254;0.371	T	0.01945	-1.1242	10	0.37606	T	0.19	-14.5411	18.2845	0.90110	0.0:0.0:1.0:0.0	.	45;342;327	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	E	327;315;342;45	ENSP00000384200:G327E;ENSP00000363097:G315E;ENSP00000363092:G342E	ENSP00000327642:G45E	G	+	2	0	PRKG1	53591678	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.260000	0.78391	2.675000	0.91044	0.573000	0.79308	GGG		0.328	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	53921672	G	A	53921672	3	1	603	1	0	0	0	0	1	0	0	0	12527	1232	43	2	1329	2	PRKG1	10	53921672	Missense_Mutation	SNP	G	TCGA-CZ-5982-01A-11D-1669-08		53921672	81613075	24	33072											
SIRT1	23411	hgsc.bcm.edu;ucsc.edu	37	10	69672600	69672600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr10:69672600delA	ENST00000212015.6	+	8	1780	c.1727delA	c.(1726-1728)gaafs	p.E577fs	SIRT1_ENST00000406900.1_Frame_Shift_Del_p.E274fs|SIRT1_ENST00000432464.1_Frame_Shift_Del_p.E282fs|SIRT1_ENST00000403579.1_Frame_Shift_Del_p.E274fs	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	577					angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GGTTGTATGGAAGAAAAACCA	0.383																																																0													97	100	99					10																	69672600		2203	4300	6503	SO:0001589	frameshift_variant	23411			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1727delA	10.37:g.69672600delA	ENSP00000212015:p.Glu577fs		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Frame_Shift_Del	DEL	ENST00000212015.6	37	CCDS7273.1																																																																																				0.383	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			-	69672600	A	-	69672600	7	5	603	1	0	1	0	1	0	0	0	0	14343	246	9	0	1757	0	SIRT1	10	69672600	Frame_Shift_Del	DEL	A	TCGA-CZ-5982-01A-11D-1669-08	15750928	69672600	65862147	25	33073											
SORCS3	22986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	107015522	107015522	+	Silent	SNP	G	G	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr10:107015522G>T	ENST00000369701.3	+	24	3527	c.3300G>T	c.(3298-3300)ggG>ggT	p.G1100G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1100					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.G1100G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGAAGCCGGGGGTACAAGTCA	0.453																																					NSCLC(116;1497 1690 7108 13108 14106)											1	Substitution - coding silent(1)	kidney(1)											120	104	109					10																	107015522		2203	4300	6503	SO:0001819	synonymous_variant	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3300G>T	10.37:g.107015522G>T			Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	CCDS7558.1																																																																																				0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		T	107015522	G	T	107015522	2	4	603	1	0	0	0	0	0	0	0	1	14938	1219	43	4		4	SORCS3	10	107015522	Silent	SNP	G	TCGA-CZ-5982-01A-11D-1669-08	37342922	107015522	28519225	26	33074											
NDUFS3	4722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47602127	47602127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr11:47602127G>T	ENST00000263774.4	+	3	266	c.184G>T	c.(184-186)Gga>Tga	p.G62*	NDUFS3_ENST00000534208.1_Nonsense_Mutation_p.G62*|KBTBD4_ENST00000395288.2_5'Flank|NDUFS3_ENST00000528192.1_Nonsense_Mutation_p.G62*|NDUFS3_ENST00000533507.1_3'UTR|KBTBD4_ENST00000525720.1_5'Flank|KBTBD4_ENST00000430070.2_5'Flank|NDUFS3_ENST00000534716.2_Nonsense_Mutation_p.G62*|KBTBD4_ENST00000526005.1_5'Flank|KBTBD4_ENST00000533290.1_5'Flank	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	62					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.G62*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	CTCAGCTTTTGGAGAGTATGT	0.438																																					Pancreas(15;551 601 22438 23457 52512)											1	Substitution - Nonsense(1)	kidney(1)											96	89	91					11																	47602127		2201	4298	6499	SO:0001587	stop_gained	4722			AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7710	protein-coding gene	gene with protein product	"complex I 30kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"	603846	"NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.184G>T	11.37:g.47602127G>T	ENSP00000263774:p.Gly62*		B2R9J1|B4DFM8|Q9UNQ8	Nonsense_Mutation	SNP	ENST00000263774.4	37	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087111	0.76642	.	.	ENSG00000213619	ENST00000263774;ENST00000528192;ENST00000530295;ENST00000534208;ENST00000534716	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.1086	18.8963	0.92424	0.0:0.0:1.0:0.0	.	.	.	.	X	62;62;40;62;62	.	ENSP00000263774:G62X	G	+	1	0	NDUFS3	47558703	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.411000	0.97342	2.452000	0.82932	0.563000	0.77884	GGA		0.438	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		T	47602127	G	T	47602127	4	4	603	1	0	0	0	0	0	1	0	0	10295	1349	47	4	194	4	NDUFS3	11	47602127	Nonsense_Mutation	SNP	G	TCGA-CZ-5982-01A-11D-1669-08		47602127	87404389	27	33075											
EEF1G	1937	broad.mit.edu	37	11	62339115	62339115	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr11:62339115G>A	ENST00000329251.4	-	4	405	c.275C>T	c.(274-276)gCa>gTa	p.A92V	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000532986.1_5'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.A142V	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	92	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)	p.A92V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACCTGGGCTGCTGCCTCTGG	0.577																																																1	Substitution - Missense(1)	kidney(1)											21	21	21					11																	62339115		1935	4133	6068	SO:0001583	missense	1937			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.275C>T	11.37:g.62339115G>A	ENSP00000331901:p.Ala92Val		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374740	0.61735	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.17691	2.26;2.26	5.25	5.25	0.73442	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.402443	0.25823	N	0.028072	T	0.29389	0.0732	M	0.89785	3.06	0.40417	D	0.979809	P;B	0.39940	0.696;0.116	B;B	0.36766	0.232;0.091	T	0.31668	-0.9935	10	0.30854	T	0.27	.	16.7037	0.85366	0.0:0.0:1.0:0.0	.	142;92	B4DTG2;P26641	.;EF1G_HUMAN	V	92;142	ENSP00000331901:A92V;ENSP00000367258:A142V	ENSP00000331901:A92V	A	-	2	0	EEF1G	62095691	0.999000	0.42202	0.908000	0.35775	0.985000	0.73830	4.696000	0.61774	2.620000	0.88729	0.563000	0.77884	GCA		0.577	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		A	62339115	G	A	62339115	3	1	603	1	0	0	0	0	1	0	0	0	4930	1319	46	2	1066	2	EEF1G	11	62339115	Missense_Mutation	SNP	G	TCGA-CZ-5982-01A-11D-1669-08	14736988	62339115	72667401	28	33076											
RTN3	10313	broad.mit.edu	37	11	63517659	63517659	+	Silent	SNP	C	C	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr11:63517659C>A	ENST00000377819.5	+	4	2881	c.2727C>A	c.(2725-2727)ggC>ggA	p.G909G	RTN3_ENST00000356000.3_Silent_p.G132G|RTN3_ENST00000339997.4_Silent_p.G890G|RTN3_ENST00000537981.1_Silent_p.G113G|RTN3_ENST00000354497.4_Silent_p.G113G|RTN3_ENST00000341307.2_Silent_p.G113G|RTN3_ENST00000540798.1_Silent_p.G797G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	909	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G132G(1)|p.G890G(1)|p.G113G(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CAGAAGAAGGCCATCCATTCA	0.428																																																3	Substitution - coding silent(3)	kidney(3)											85	65	71					11																	63517659		2201	4298	6499	SO:0001819	synonymous_variant	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2727C>A	11.37:g.63517659C>A			B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	CCDS58141.1																																																																																				0.428	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		A	63517659	C	A	63517659	2	1	603	1	0	0	0	0	0	0	0	1	13733	726	26	4		4	RTN3	11	63517659	Silent	SNP	C	TCGA-CZ-5982-01A-11D-1669-08	1178544	63517659	71488857	29	33077											
RIMKLB	57494	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	8906537	8906537	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr12:8906537A>G	ENST00000538135.1	+	5	1370	c.545A>G	c.(544-546)cAt>cGt	p.H182R	RIMKLB_ENST00000357529.3_Missense_Mutation_p.H182R|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Missense_Mutation_p.H182R			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	182	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.H182R(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GATCTAAGCCATCTTATTCGC	0.438																																																1	Substitution - Missense(1)	kidney(1)											128	111	117					12																	8906537		1894	4129	6023	SO:0001583	missense	57494			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.545A>G	12.37:g.8906537A>G	ENSP00000440943:p.His182Arg		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247172	0.80024	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	4.83	4.83	0.62350	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.000000	0.85682	U	0.000000	T	0.56140	0.1965	L	0.38838	1.175	0.80722	D	1	B;B	0.23490	0.031;0.086	B;B	0.32289	0.088;0.143	T	0.58222	-0.7674	9	0.62326	D	0.03	.	13.5059	0.61483	1.0:0.0:0.0:0.0	.	182;182	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	R	182	.	ENSP00000350136:H182R	H	+	2	0	RIMKLB	8797804	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.360000	0.90095	1.927000	0.55829	0.482000	0.46254	CAT		0.438	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		G	8906537	A	G	8906537	3	3	603	1	0	0	0	0	1	0	0	0	13372	217	8	3	559	3	RIMKLB	12	8906537	Missense_Mutation	SNP	A	TCGA-CZ-5982-01A-11D-1669-08		8906537	124945358	30	33078											
BRCA2	675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32945126	32945126	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr13:32945126T>A	ENST00000380152.3	+	20	8754	c.8521T>A	c.(8521-8523)Ttt>Att	p.F2841I	BRCA2_ENST00000544455.1_Missense_Mutation_p.F2841I			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2841					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.F2841I(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTATACATATTTCGCAATGA	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	2	Substitution - Missense(2)	kidney(2)											86	85	85					13																	32945126		2203	4300	6503	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8521T>A	13.37:g.32945126T>A	ENSP00000369497:p.Phe2841Ile		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.033832	0.93575	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.83163	-1.69;-1.69	5.1	5.1	0.69264	Nucleic acid-binding, OB-fold-like (1);Tower (1);	0.113563	0.64402	D	0.000011	D	0.90349	0.6980	M	0.74258	2.255	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.91018	0.4855	10	0.54805	T	0.06	.	14.8952	0.70639	0.0:0.0:0.0:1.0	.	2841	P51587	BRCA2_HUMAN	I	2841	ENSP00000369497:F2841I;ENSP00000439902:F2841I	ENSP00000369497:F2841I	F	+	1	0	BRCA2	31843126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.907000	0.69908	1.923000	0.55706	0.397000	0.26171	TTT		0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		A	32945126	T	A	32945126	3	1	603	1	0	0	0	0	1	0	0	0	1501	1493	52	5	8595	5	BRCA2	13	32945126	Missense_Mutation	SNP	T	TCGA-CZ-5982-01A-11D-1669-08		32945126	82224752	31	33079											
SLC15A1	6564	broad.mit.edu;ucsc.edu	37	13	99361816	99361824	+	Splice_Site	DEL	CGTCACCTA	CGTCACCTA	-	rs201817346|rs374337231		TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	CGTCACCTA	CGTCACCTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr13:99361816_99361824delCGTCACCTA	ENST00000376503.5	-	14	1123		c.e14+1			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CCAACCCACCCGTCACCTACGTGAAATTG	0.574																																																0																																										SO:0001630	splice_region_variant	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1067+1TAGGTGACG>-	13.37:g.99361816_99361824delCGTCACCTA			Q5VW82	Splice_Site	DEL	ENST00000376503.5	37	CCDS9489.1																																																																																				0.574	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	Intron	-	99361824	CGTCACCTA	-	99361816	8	5	603	1	0	1	0	1	0	0	1	0	14404	667	23	0		0	SLC15A1	13	99361816	Splice_Site	DEL	CGTCACCTA	TCGA-CZ-5982-01A-11D-1669-08	66416690	99361816	15808062	32	33080											
C14orf4	64207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77492045	77492045	+	Silent	SNP	C	C	G			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr14:77492045C>G	ENST00000238647.3	-	1	2989	c.2091G>C	c.(2089-2091)gtG>gtC	p.V697V		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	697					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.V697V(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTTGGGGGTGCACTTGGTCCA	0.637																																																1	Substitution - coding silent(1)	kidney(1)											28	28	28					14																	77492045		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.2091G>C	14.37:g.77492045C>G			Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																				0.637	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		G	77492045	C	G	77492045	2	3	603	1	0	0	0	0	0	0	0	1	1775	697	25	4		4	C14orf4	14	77492045	Silent	SNP	C	TCGA-CZ-5982-01A-11D-1669-08		77492045	29857495	33	33081											
WDR93	56964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90276249	90276249	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr15:90276249G>T	ENST00000268130.7	+	13	1444	c.1343G>T	c.(1342-1344)gGg>gTg	p.G448V	WDR93_ENST00000444934.2_Missense_Mutation_p.G165V|WDR93_ENST00000560294.1_Intron	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	448					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.G448V(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCCCTCTTGGGGTCGCTGCT	0.507																																																1	Substitution - Missense(1)	kidney(1)											96	107	104					15																	90276249		2200	4299	6499	SO:0001583	missense	56964				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1343G>T	15.37:g.90276249G>T	ENSP00000268130:p.Gly448Val		Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555866	0.65425	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.28666	1.6;2.39	5.73	3.68	0.42216	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.186928	0.37393	N	0.002117	T	0.47358	0.1441	M	0.70595	2.14	0.51482	D	0.999928	D	0.67145	0.996	P	0.59703	0.862	T	0.38908	-0.9639	10	0.40728	T	0.16	-29.6015	12.7926	0.57543	0.0:0.2414:0.7586:0.0	.	448	Q6P2C0	WDR93_HUMAN	V	448;165	ENSP00000268130:G448V;ENSP00000403871:G165V	ENSP00000268130:G448V	G	+	2	0	WDR93	88077253	0.999000	0.42202	0.983000	0.44433	0.984000	0.73092	1.180000	0.32005	2.710000	0.92621	0.644000	0.83932	GGG		0.507	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		T	90276249	G	T	90276249	3	4	603	1	0	0	0	0	1	0	0	0	17345	1232	43	4	1389	4	WDR93	15	90276249	Missense_Mutation	SNP	G	TCGA-CZ-5982-01A-11D-1669-08		90276249	12255143	34	33082											
ITGAX	3687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31373943	31373943	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr16:31373943G>A	ENST00000268296.4	+	12	1349	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	ITGAX_ENST00000562522.1_Missense_Mutation_p.E410K	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	410					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.E410K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TTACTCCACCGAGCTGGCCCT	0.677																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1228G>A	16.37:g.31373943G>A	ENSP00000268296:p.Glu410Lys		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	g	9.382	1.073145	0.20147	.	.	ENSG00000140678	ENST00000268296	T	0.21543	2.0	3.91	1.84	0.25277	.	.	.	.	.	T	0.23249	0.0562	M	0.86178	2.8	0.09310	N	1	D	0.53885	0.963	B	0.31337	0.128	T	0.24297	-1.0164	9	0.33940	T	0.23	.	13.3997	0.60876	0.0:0.4526:0.5474:0.0	.	410	P20702	ITAX_HUMAN	K	410	ENSP00000268296:E410K	ENSP00000268296:E410K	E	+	1	0	ITGAX	31281444	0.988000	0.35896	0.036000	0.18154	0.253000	0.25986	2.284000	0.43478	0.238000	0.21222	-0.521000	0.04368	GAG		0.677	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		A	31373943	G	A	31373943	3	1	603	1	0	0	0	0	1	0	0	0	7891	1059	37	1	1274	1	ITGAX	16	31373943	Missense_Mutation	SNP	G	TCGA-CZ-5982-01A-11D-1669-08		31373943	58980810	35	33083											
IRX5	10265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	54967655	54967655	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr16:54967655G>T	ENST00000394636.4	+	3	1659	c.1322G>T	c.(1321-1323)gGa>gTa	p.G441V	IRX5_ENST00000560154.1_Missense_Mutation_p.G221V|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Missense_Mutation_p.G440V|IRX5_ENST00000558597.1_Missense_Mutation_p.G375V			P78411	IRX5_HUMAN	iroquois homeobox 5	441					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.G441V(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CATTTCAATGGATTAAACCAG	0.572																																																1	Substitution - Missense(1)	kidney(1)											38	45	43					16																	54967655		2195	4300	6495	SO:0001583	missense	10265			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1322G>T	16.37:g.54967655G>T	ENSP00000378132:p.Gly441Val		H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193592	0.58017	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.50813	0.73;0.73	4.77	4.77	0.60923	.	0.278614	0.36893	N	0.002351	T	0.61664	0.2365	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63752	-0.6566	10	0.56958	D	0.05	-2.8799	17.9725	0.89117	0.0:0.0:1.0:0.0	.	441	P78411	IRX5_HUMAN	V	441;440	ENSP00000378132:G441V;ENSP00000316250:G440V	ENSP00000316250:G440V	G	+	2	0	IRX5	53525156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.912000	0.92726	2.455000	0.83008	0.650000	0.86243	GGA		0.572	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			T	54967655	G	T	54967655	3	4	603	1	0	0	0	0	1	0	0	0	7849	1174	41	4	1332	4	IRX5	16	54967655	Missense_Mutation	SNP	G	TCGA-CZ-5982-01A-11D-1669-08	23593712	54967655	35387098	36	33084											
RNF213	57674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78328249	78328249	+	Silent	SNP	T	T	C			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr17:78328249T>C	ENST00000582970.1	+	36	10878	c.10735T>C	c.(10735-10737)Ttg>Ctg	p.L3579L	RNF213_ENST00000508628.2_Silent_p.L3628L|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.L1652L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3579					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L3628L(1)|p.L1652L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCCTCTTTCTTGCGGGTATC	0.547																																																2	Substitution - coding silent(2)	kidney(2)											95	89	91					17																	78328249		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10735T>C	17.37:g.78328249T>C			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		C	78328249	T	C	78328249	2	2	603	1	0	0	0	0	0	0	0	1	13483	1606	56	3		3	RNF213	17	78328249	Silent	SNP	T	TCGA-CZ-5982-01A-11D-1669-08		78328249	2866961	37	33085											
HMSD	284293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61627535	61627535	+	Silent	SNP	C	C	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr18:61627535C>T	ENST00000408945.3	+	4	568	c.366C>T	c.(364-366)ttC>ttT	p.F122F	HMSD_ENST00000481726.1_Intron	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	122						extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F122F(1)		kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						TATTCTATTTCGATAATATTT	0.299																																																1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	284293			AC009802	CCDS42441.1	18q21.33	2008-02-04			ENSG00000221887	ENSG00000221887			23037	protein-coding gene	gene with protein product		612086		C18orf53		17409267	Standard	NM_001123366		Approved	ACC-6	uc010dqj.3	A8MTL9	OTTHUMG00000060593	ENST00000408945.3:c.366C>T	18.37:g.61627535C>T				Silent	SNP	ENST00000408945.3	37	CCDS42441.1																																																																																				0.299	HMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134010.2	XM_209104		T	61627535	C	T	61627535	2	4	603	1	0	0	0	0	0	0	0	1	7248	883	31	1		1	HMSD	18	61627535	Silent	SNP	C	TCGA-CZ-5982-01A-11D-1669-08		61627535	16449713	38	33086											
SALL3	27164	broad.mit.edu	37	18	76752286	76752286	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr18:76752286C>A	ENST00000537592.2	+	2	295	c.295C>A	c.(295-297)Ccc>Acc	p.P99T	SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000575389.2_Missense_Mutation_p.P99T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	99					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P99T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGCCTTCGCCCGCCAGCTC	0.761																																																1	Substitution - Missense(1)	kidney(1)											5	7	6					18																	76752286		1964	3860	5824	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.295C>A	18.37:g.76752286C>A	ENSP00000441823:p.Pro99Thr		Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428366	0.25726	.	.	ENSG00000256463	ENST00000537592;ENST00000536229	T	0.10860	2.83	4.43	4.43	0.53597	.	0.000000	0.53938	D	0.000060	T	0.29190	0.0726	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.04650	-1.0936	10	0.23302	T	0.38	-29.6515	17.412	0.87488	0.0:1.0:0.0:0.0	.	99	Q9BXA9	SALL3_HUMAN	T	99	ENSP00000441823:P99T	ENSP00000299466:P99T	P	+	1	0	SALL3	74853274	1.000000	0.71417	0.085000	0.20634	0.021000	0.10359	5.355000	0.66046	2.194000	0.70268	0.491000	0.48974	CCC		0.761	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		A	76752286	C	A	76752286	3	1	603	1	0	0	0	0	1	0	0	0	13818	739	26	4	301	4	SALL3	18	76752286	Missense_Mutation	SNP	C	TCGA-CZ-5982-01A-11D-1669-08	15124751	76752286	1324962	39	33087											
ARID3A	1820	hgsc.bcm.edu	37	19	971949	971950	+	In_Frame_Ins	INS	-	-	GCA	rs1051505|rs552779877	byFrequency	TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr19:971949_971950insGCA	ENST00000263620.3	+	9	1993_1994	c.1666_1667insGCA	c.(1666-1668)ggc>gGCAgc	p.559_560insS		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	559	Gly-rich.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		cggcggcggcggcagcagcagc	0.653														147	0.029353	0.1059	0.0101	5008	,	,		8554	0.0		0.0	False		,,,				2504	0.0				Pancreas(29;54 1022 32760 50921)											0																																										SO:0001652	inframe_insertion	1820			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1676_1678dupGCA	19.37:g.971956_971958dupGCA	ENSP00000263620:p.Ser559_Ser559dup		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	In_Frame_Ins	INS	ENST00000263620.3	37	CCDS12050.1																																																																																				0.653	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		GCA	971950	-	GCA	971949	7	5	603	1	0	1	1	0	0	0	0	0	916	1116	39	0	1696	0	ARID3A	19	971949	In_Frame_Ins	INS	-	TCGA-CZ-5982-01A-11D-1669-08		971949	58157034	40	33088											
ZNF181	339318	broad.mit.edu;hgsc.bcm.edu	37	19	35232767	35232767	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr19:35232767G>A	ENST00000492450.1	+	4	1570	c.1481G>A	c.(1480-1482)tGt>tAt	p.C494Y	ZNF181_ENST00000392232.3_Missense_Mutation_p.C538Y|ZNF181_ENST00000459757.2_Missense_Mutation_p.C493Y			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C430Y(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGTATTAAATGTGGGAAGACC	0.393																																																1	Substitution - Missense(1)	kidney(1)											50	55	53					19																	35232767		2203	4300	6503	SO:0001583	missense	339318			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1481G>A	19.37:g.35232767G>A	ENSP00000420727:p.Cys494Tyr		B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.343079	0.61073	.	.	ENSG00000197841	ENST00000392232;ENST00000492450;ENST00000459757	D;D;D	0.85861	-2.04;-2.04;-2.04	3.12	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94152	0.8124	H	0.96365	3.81	0.43025	D	0.994586	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95346	0.8442	9	0.87932	D	0	.	12.4995	0.55948	0.0:0.0:1.0:0.0	.	493;494	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	Y	538;494;493	ENSP00000376065:C538Y;ENSP00000420727:C494Y;ENSP00000419435:C493Y	ENSP00000376065:C538Y	C	+	2	0	ZNF181	39924607	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.284000	0.89912	2.041000	0.60428	0.655000	0.94253	TGT		0.393	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		A	35232767	G	A	35232767	3	1	603	1	0	0	0	0	1	0	0	0	17754	1377	48	2	1495	2	ZNF181	19	35232767	Missense_Mutation	SNP	G	TCGA-CZ-5982-01A-11D-1669-08	34260818	35232767	23896216	41	33089											
FBL	2091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40330954	40330954	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr19:40330954A>T	ENST00000221801.3	-	4	410	c.297T>A	c.(295-297)tgT>tgA	p.C99*	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	99					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.C99*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CCTTTCCTCGACAAATGAAGA	0.587																																																1	Substitution - Nonsense(1)	kidney(1)											106	99	101					19																	40330954		2203	4300	6503	SO:0001587	stop_gained	2091			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.297T>A	19.37:g.40330954A>T	ENSP00000221801:p.Cys99*		B5BUE8|O75259|Q6IAT5|Q9UPI6	Nonsense_Mutation	SNP	ENST00000221801.3	37	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	A	36	5.905567	0.97087	.	.	ENSG00000105202	ENST00000221801	.	.	.	5.08	1.55	0.23275	.	0.044204	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-13.0983	7.9414	0.29961	0.6531:0.0:0.3469:0.0	.	.	.	.	X	99	.	ENSP00000221801:C99X	C	-	3	2	FBL	45022794	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.382000	0.34374	-0.008000	0.14320	0.418000	0.28097	TGT		0.587	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		T	40330954	A	T	40330954	4	4	603	1	0	0	0	0	0	1	0	0	5698	273	10	5	692	5	FBL	19	40330954	Nonsense_Mutation	SNP	A	TCGA-CZ-5982-01A-11D-1669-08	5098187	40330954	18798029	42	33090											
FAM71E1	112703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50979507	50979507	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr19:50979507G>A	ENST00000600100.1	-	1	503	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	FAM71E1_ENST00000595790.1_Missense_Mutation_p.R47C|EMC10_ENST00000598585.1_5'Flank|EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000376918.3_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	47								p.R47C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GGGAGAAAGCGAGGGGGCGGG	0.652																																																1	Substitution - Missense(1)	kidney(1)											51	54	53					19																	50979507		2197	4288	6485	SO:0001583	missense	112703				CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.139C>T	19.37:g.50979507G>A	ENSP00000472421:p.Arg47Cys		Q96EJ5|Q9BSM9	Missense_Mutation	SNP	ENST00000600100.1	37		.	.	.	.	.	.	.	.	.	.	G	14.67	2.604358	0.46423	.	.	ENSG00000142530	ENST00000391816;ENST00000270620	T;T	0.13196	2.63;2.61	3.86	-4.81	0.03180	.	2.694200	0.01573	N	0.020680	T	0.08403	0.0209	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.34104	-0.9842	10	0.87932	D	0	.	1.7781	0.03025	0.2005:0.3331:0.326:0.1403	.	47;47	Q6IPT2;Q6IPT2-2	F71E1_HUMAN;.	C	47	ENSP00000375692:R47C;ENSP00000270620:R47C	ENSP00000270620:R47C	R	-	1	0	FAM71E1	55671319	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.034000	0.01424	-0.741000	0.04797	0.467000	0.42956	CGC		0.652	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			A	50979507	G	A	50979507	3	1	603	1	0	0	0	0	1	0	0	0	5613	1058	37	1	572	1	FAM71E1	19	50979507	Missense_Mutation	SNP	G	TCGA-CZ-5982-01A-11D-1669-08	10648553	50979507	8149476	43	33091											
PHF20	51230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34457385	34457385	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr20:34457385G>T	ENST00000374012.3	+	7	963	c.834G>T	c.(832-834)ttG>ttT	p.L278F	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.A257S			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	278					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L278F(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CTCAAACTTTGCAACCAATAA	0.318																																																1	Substitution - Missense(1)	kidney(1)											100	99	99					20																	34457385		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.834G>T	20.37:g.34457385G>T	ENSP00000363124:p.Leu278Phe		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.83|15.83	2.948265|2.948265	0.53186|0.53186	.|.	.|.	ENSG00000025293|ENSG00000025293	ENST00000439301|ENST00000374012;ENST00000339089;ENST00000374000	T|T;T;T	0.49432|0.54866	0.78|1.22;0.55;0.56	5.35|5.35	3.41|3.41	0.39046|0.39046	.|.	.|0.367965	.|0.25543	.|N	.|0.029960	T|T	0.54224|0.54224	0.1845|0.1845	L|L	0.29908|0.29908	0.895|0.895	0.28022|0.28022	N|N	0.934469|0.934469	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	T|T	0.46638|0.46638	-0.9177|-0.9177	7|10	0.32370|0.12103	T|T	0.25|0.63	.|.	9.8207|9.8207	0.40880|0.40880	0.2212:0.0:0.7788:0.0|0.2212:0.0:0.7788:0.0	.|.	.|278;278;278	.|Q566Q2;Q9BVI0;Q66K49	.|.;PHF20_HUMAN;.	S|F	257|278	ENSP00000410373:A257S|ENSP00000363124:L278F;ENSP00000341900:L278F;ENSP00000363112:L278F	ENSP00000410373:A257S|ENSP00000341900:L278F	A|L	+|+	1|3	0|2	PHF20|PHF20	33920799|33920799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	1.793000|1.793000	0.38764|0.38764	0.645000|0.645000	0.30675|0.30675	-0.237000|-0.237000	0.12165|0.12165	GCA|TTG		0.318	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		T	34457385	G	T	34457385	3	4	603	1	0	0	0	0	1	0	0	0	11833	1310	46	4	856	4	PHF20	20	34457385	Missense_Mutation	SNP	G	TCGA-CZ-5982-01A-11D-1669-08		34457385	28568135	44	33092											
SALL4	57167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	50407915	50407915	+	Silent	SNP	C	C	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr20:50407915C>A	ENST00000217086.4	-	2	1218	c.1107G>T	c.(1105-1107)gtG>gtT	p.V369V	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Silent_p.V369V	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	369					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V369V(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTGACATCCACCGCGGAGA	0.567																																																1	Substitution - coding silent(1)	kidney(1)											76	74	75					20																	50407915		2203	4300	6503	SO:0001819	synonymous_variant	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1107G>T	20.37:g.50407915C>A			A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	CCDS13438.1																																																																																				0.567	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			A	50407915	C	A	50407915	2	1	603	1	0	0	0	0	0	0	0	1	13819	581	21	4		4	SALL4	20	50407915	Silent	SNP	C	TCGA-CZ-5982-01A-11D-1669-08	15950530	50407915	12617605	45	33093											
SON	6651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34922737	34922737	+	Silent	SNP	T	T	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr21:34922737T>A	ENST00000356577.4	+	3	1675	c.1200T>A	c.(1198-1200)acT>acA	p.T400T	SON_ENST00000300278.4_Silent_p.T400T|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.T400T|SON_ENST00000381679.4_Silent_p.T400T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	400					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T400T(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCCCTGTGACTCCAGTGCTGG	0.677																																																2	Substitution - coding silent(2)	kidney(2)											33	39	37					21																	34922737		2203	4300	6503	SO:0001819	synonymous_variant	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1200T>A	21.37:g.34922737T>A			D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	CCDS13629.1																																																																																				0.677	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		A	34922737	T	A	34922737	2	1	603	1	0	0	0	0	0	0	0	1	14932	1538	54	5		5	SON	21	34922737	Silent	SNP	T	TCGA-CZ-5982-01A-11D-1669-08		34922737	13207158	46	33094											
PNPLA3	80339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	44322959	44322959	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr22:44322959C>A	ENST00000216180.3	+	2	505	c.332C>A	c.(331-333)tCc>tAc	p.S111Y	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.S107Y	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	111	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.S111Y(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CAGCTCATCTCCGGCAAAATA	0.502																																																1	Substitution - Missense(1)	kidney(1)											89	78	82					22																	44322959		2203	4300	6503	SO:0001583	missense	80339				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.332C>A	22.37:g.44322959C>A	ENSP00000216180:p.Ser111Tyr		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649278	0.47362	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.80994	-1.44;-1.07	5.5	5.5	0.81552	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.64402	D	0.000002	D	0.90920	0.7146	M	0.90309	3.105	0.52099	D	0.999947	D	0.89917	1.0	D	0.81914	0.995	D	0.92353	0.5891	10	0.87932	D	0	-26.7168	13.6947	0.62569	0.0:0.8453:0.1547:0.0	.	111	Q9NST1	PLPL3_HUMAN	Y	111;107	ENSP00000216180:S111Y;ENSP00000397987:S107Y	ENSP00000216180:S111Y	S	+	2	0	PNPLA3	42654292	0.797000	0.28877	0.198000	0.23420	0.007000	0.05969	5.346000	0.65992	2.568000	0.86640	0.643000	0.83706	TCC		0.502	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		A	44322959	C	A	44322959	3	1	603	1	0	0	0	0	1	0	0	0	12168	855	30	4	338	4	PNPLA3	22	44322959	Missense_Mutation	SNP	C	TCGA-CZ-5982-01A-11D-1669-08		44322959	6981607	47	33095											
FBLN1	2192	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45931087	45931087	+	Silent	SNP	C	C	T	rs144704783		TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chr22:45931087C>T	ENST00000327858.6	+	8	887	c.792C>T	c.(790-792)gaC>gaT	p.D264D	FBLN1_ENST00000442170.2_Silent_p.D264D|FBLN1_ENST00000348697.2_Silent_p.D264D|FBLN1_ENST00000402984.3_Silent_p.D302D|FBLN1_ENST00000262722.7_Silent_p.D264D|FBLN1_ENST00000340923.5_Silent_p.D264D	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	264	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.D264D(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGATATTGACGAGTGTGAGA	0.418																																																3	Substitution - coding silent(3)	kidney(3)							,,,	1,4405	2.1+/-5.4	0,1,2202	144	131	136		792,792,792,792	4.4	1	22	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FBLN1	NM_001996.3,NM_006485.3,NM_006486.2,NM_006487.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	264/684,264/602,264/704,264/567	45931087	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.792C>T	22.37:g.45931087C>T			B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																				0.418	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		T	45931087	C	T	45931087	2	4	603	1	0	0	0	0	0	0	0	1	5700	535	19	1		1	FBLN1	22	45931087	Silent	SNP	C	TCGA-CZ-5982-01A-11D-1669-08	1608128	45931087	5373479	48	33096											
CXorf38	159013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	40506319	40506319	+	Missense_Mutation	SNP	A	A	T	rs201677570		TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chrX:40506319A>T	ENST00000327877.5	-	2	317	c.291T>A	c.(289-291)gaT>gaA	p.D97E	CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000378418.2_Missense_Mutation_p.D97E|CXorf38_ENST00000378421.1_5'UTR	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	97								p.D97E(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CCCAGTGCACATCTCCATTTC	0.632																																																1	Substitution - Missense(1)	kidney(1)											33	32	33					X																	40506319		2203	4300	6503	SO:0001583	missense	159013			AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.291T>A	X.37:g.40506319A>T	ENSP00000330488:p.Asp97Glu		B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	a	13.84	2.357441	0.41801	.	.	ENSG00000185753	ENST00000327877;ENST00000378418	T;T	0.40756	1.02;1.02	5.26	0.584	0.17422	.	0.199459	0.44097	D	0.000490	T	0.26122	0.0637	L	0.46157	1.445	0.21861	N	0.999502	B	0.27229	0.172	B	0.25291	0.059	T	0.11203	-1.0597	10	0.22706	T	0.39	-3.1586	1.6373	0.02745	0.4106:0.1317:0.3214:0.1362	.	97	Q8TB03	CX038_HUMAN	E	97	ENSP00000330488:D97E;ENSP00000367674:D97E	ENSP00000330488:D97E	D	-	3	2	CXorf38	40391263	0.680000	0.27605	0.984000	0.44739	0.882000	0.50991	-0.114000	0.10757	-0.115000	0.11915	-1.205000	0.01647	GAT		0.632	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		T	40506319	A	T	40506319	3	4	603	1	0	0	0	0	1	0	0	0	4109	214	8	5	688	5	CXorf38	23	40506319	Missense_Mutation	SNP	A	TCGA-CZ-5982-01A-11D-1669-08		40506319	114764241	49	33097											
UPRT	139596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	74517350	74517350	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chrX:74517350T>A	ENST00000373383.4	+	4	691	c.524T>A	c.(523-525)tTt>tAt	p.F175Y	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000530743.1_Missense_Mutation_p.F39Y|UPRT_ENST00000373379.1_Missense_Mutation_p.F175Y	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	175					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F175Y(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GGAGTGAAATTTGAGAAGGGA	0.368																																																1	Substitution - Missense(1)	kidney(1)											214	197	203					X																	74517350		2203	4300	6503	SO:0001583	missense	139596			BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.524T>A	X.37:g.74517350T>A	ENSP00000362481:p.Phe175Tyr		Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238239	0.79800	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	D;D;D	0.91577	-2.87;-2.87;-2.87	5.24	4.05	0.47172	.	0.000000	0.85682	D	0.000000	D	0.89952	0.6864	L	0.35593	1.075	0.58432	D	0.999991	P;P	0.39862	0.692;0.692	P;P	0.53593	0.73;0.73	D	0.87349	0.2336	10	0.44086	T	0.13	-17.7988	10.3985	0.44216	0.0:0.0:0.1624:0.8376	.	175;175	A8KAF9;Q96BW1	.;UPP_HUMAN	Y	175;175;39	ENSP00000362481:F175Y;ENSP00000362477:F175Y;ENSP00000434037:F39Y	ENSP00000362477:F175Y	F	+	2	0	UPRT	74434075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.649000	0.83500	0.629000	0.30376	0.486000	0.48141	TTT		0.368	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		A	74517350	T	A	74517350	3	1	603	1	0	0	0	0	1	0	0	0	17019	1841	64	5	538	5	UPRT	23	74517350	Missense_Mutation	SNP	T	TCGA-CZ-5982-01A-11D-1669-08	34011031	74517350	80753210	50	33098											
TEX13A	56157	hgsc.bcm.edu	37	X	104464282	104464282	+	Splice_Site	DEL	C	C	-	rs56118606|rs367644904		TCGA-CZ-5982-01A-11D-1669-08	TCGA-CZ-5982-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3c0f78-1c0a-48df-856e-0afbc2b5bceb	27bc1b1e-8214-4a64-95e7-9f94a435ed49	g.chrX:104464282delC	ENST00000413579.1	-	4	706	c.595delG	c.(595-597)gat>at	p.D199fs	TEX13A_ENST00000372575.1_Frame_Shift_Del_p.G199fs|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Frame_Shift_Del_p.G199fs			Q9BXU3	TX13A_HUMAN	testis expressed 13A	199							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTCCAACATCCCCTCTGCTC	0.652																																																0													3	4	4					X																	104464282		1657	3597	5254	SO:0001630	splice_region_variant	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.595-1G>-	X.37:g.104464282delC			B1B1G8|Q32NB6	Frame_Shift_Del	DEL	ENST00000413579.1	37																																																																																					0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274	Frame_Shift_Del	-	104464282	C	-	104464282	8	5	603	1	0	1	0	1	0	0	1	0	15781	855	30	0	639	0	TEX13A	23	104464282	Splice_Site	DEL	C	TCGA-CZ-5982-01A-11D-1669-08	29946932	104464282	50806278	51	33099											
KIAA1751	85452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1919956	1919956	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr1:1919956C>G	ENST00000434971.2	-	4	323	c.291G>C	c.(289-291)aaG>aaC	p.K97N				Q69YW0	CA222_HUMAN		0								p.K97N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCACCTCATCTTCTCAGTGA	0.587																																																2	Substitution - Missense(2)	kidney(2)											87	91	90					1																	1919956		2084	4225	6309	SO:0001583	missense	85452																														ENST00000434971.2:c.291G>C	1.37:g.1919956C>G	ENSP00000408078:p.Lys97Asn			Missense_Mutation	SNP	ENST00000434971.2	37		.	.	.	.	.	.	.	.	.	.	C	10.08	1.252086	0.22880	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	T;T	0.62498	0.02;0.05	3.89	-2.12	0.07165	.	0.082857	0.45867	D	0.000325	T	0.68705	0.3030	M	0.67953	2.075	0.20764	N	0.999859	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.59958	-0.7356	10	0.66056	D	0.02	-17.8513	4.7183	0.12906	0.0:0.4279:0.1807:0.3914	.	97;97	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	N	97;88;97	ENSP00000367853:K88N;ENSP00000408078:K97N	ENSP00000270720:K97N	K	-	3	2	C1orf222	1909816	0.019000	0.18553	0.048000	0.18961	0.124000	0.20399	-0.510000	0.06328	-0.514000	0.06488	-0.391000	0.06502	AAG		0.587	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				G	1919956	C	G	1919956	3	3	604	1	0	0	0	0	1	0	0	0	8258	912	32	4	2057	4	KIAA1751	1	1919956	Missense_Mutation	SNP	C	TCGA-CZ-5984-01A-11D-1669-08		1919956	247330665	1	33100											
EPHA8	2046	broad.mit.edu	37	1	22913109	22913109	+	Silent	SNP	G	G	A	rs201432613		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr1:22913109G>A	ENST00000166244.3	+	4	1032	c.960G>A	c.(958-960)ccG>ccA	p.P320P	EPHA8_ENST00000374644.4_Silent_p.P320P|EPHA8_ENST00000538803.1_Silent_p.P320P	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	320	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.P320P(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCTGGACCCGCCGTCCTCAG	0.672													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14865	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	kidney(2)											42	42	42					1																	22913109		2203	4300	6503	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.960G>A	1.37:g.22913109G>A			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		A	22913109	G	A	22913109	2	1	604	1	0	0	0	0	0	0	0	1	5175	1074	38	1		1	EPHA8	1	22913109	Silent	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	20993153	22913109	226337512	2	33101											
AGL	178	hgsc.bcm.edu;ucsc.edu	37	1	100336394	100336394	+	Silent	SNP	G	G	A	rs181804327		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr1:100336394G>A	ENST00000294724.4	+	7	1405	c.927G>A	c.(925-927)gcG>gcA	p.A309A	AGL_ENST00000361915.3_Silent_p.A309A|AGL_ENST00000361522.4_Silent_p.A292A|AGL_ENST00000370165.3_Silent_p.A309A|AGL_ENST00000370161.2_Silent_p.A293A|AGL_ENST00000370163.3_Silent_p.A309A|AGL_ENST00000361302.3_Silent_p.A293A	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	309					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.A309A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TCAACAAAGCGGTTGAGCAAT	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		15800	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											33	38	36					1																	100336394		2178	4282	6460	SO:0001819	synonymous_variant	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.927G>A	1.37:g.100336394G>A			A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	CCDS759.1																																																																																				0.318	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		A	100336394	G	A	100336394	2	1	604	1	0	0	0	0	0	0	0	1	384	1103	39	1		1	AGL	1	100336394	Silent	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	77423285	100336394	148914227	3	33102											
CFHR4	3080	broad.mit.edu;hgsc.bcm.edu	37	1	196883638	196883638	+	Intron	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr1:196883638G>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.M151I|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.M397I|CFHR4_ENST00000367418.2_Missense_Mutation_p.M151I			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.M151I(1)|p.M397I(1)		large_intestine(2)|ovary(1)|skin(3)	6						TTTGTGATATGCCTGTTTTTG	0.368																																																2	Substitution - Missense(2)	kidney(2)											84	78	80					1																	196883638		1869	4099	5968	SO:0001627	intron_variant	10877			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34947G>T	1.37:g.196883638G>T			Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37		.	.	.	.	.	.	.	.	.	.	g	3.134	-0.177879	0.06380	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.62941	-0.01;-0.01;-0.01	4.06	1.99	0.26369	Complement control module (3);Sushi/SCR/CCP (3);	.	.	.	.	T	0.51381	0.1671	L	0.35854	1.095	0.09310	N	1	B;B;B	0.31383	0.23;0.321;0.001	B;B;B	0.39068	0.131;0.289;0.006	T	0.47623	-0.9103	9	0.48119	T	0.1	.	3.8316	0.08876	0.1297:0.0:0.6304:0.2399	.	397;398;151	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	I	397;151;151;151	ENSP00000356386:M397I;ENSP00000356388:M151I;ENSP00000251424:M151I	ENSP00000251424:M151I	M	+	3	0	CFHR4	195150261	0.386000	0.25180	0.234000	0.24042	0.020000	0.10135	0.871000	0.28023	1.973000	0.57446	0.406000	0.27484	ATG		0.368	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		T	196883638	G	T	196883638	1	4	604	0	1	0	0	0	0	0	0	0	3289	1319	46	4		4	CFHR4	1	196883638	Intron	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	96547244	196883638	52366983	4	33103											
PPM1B	5495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44436369	44436369	+	Silent	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr2:44436369T>C	ENST00000282412.4	+	3	1279	c.867T>C	c.(865-867)agT>agC	p.S289S	PPM1B_ENST00000378551.2_Silent_p.S289S|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Silent_p.S289S|PPM1B_ENST00000345249.4_Silent_p.S2S|PPM1B_ENST00000409432.3_Silent_p.S289S	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	289					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.S289S(3)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATAACATGAGTATTGTACTAG	0.323																																																3	Substitution - coding silent(3)	kidney(3)											90	86	87					2																	44436369		2203	4300	6503	SO:0001819	synonymous_variant	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.867T>C	2.37:g.44436369T>C			Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Silent	SNP	ENST00000282412.4	37	CCDS1817.1																																																																																				0.323	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		C	44436369	T	C	44436369	2	2	604	1	0	0	0	0	0	0	0	1	12341	1635	57	3		3	PPM1B	2	44436369	Silent	SNP	T	TCGA-CZ-5984-01A-11D-1669-08		44436369	198763004	5	33104											
GLS	2744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191792206	191792206	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr2:191792206C>T	ENST00000320717.3	+	12	1681	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y	GLS_ENST00000338435.4_Missense_Mutation_p.H475Y|GLS_ENST00000409215.1_5'Flank|GLS_ENST00000409626.1_Missense_Mutation_p.H46Y|GLS_ENST00000409428.1_5'Flank	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	475					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.H475Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GTTTGCTTTCCATGTAAGTAA	0.363																																																1	Substitution - Missense(1)	kidney(1)											109	109	109					2																	191792206		2203	4300	6503	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1423C>T	2.37:g.191792206C>T	ENSP00000317379:p.His475Tyr		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663032	0.88251	.	.	ENSG00000115419	ENST00000320717;ENST00000338435;ENST00000409626;ENST00000457316	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.4	5.4	0.78164	Beta-lactamase/transpeptidase-like (1);	0.049098	0.85682	D	0.000000	T	0.53578	0.1805	M	0.72479	2.2	0.80722	D	1	P;P;P;P;P	0.49253	0.921;0.847;0.921;0.847;0.9	B;P;B;P;P	0.47251	0.254;0.542;0.374;0.459;0.478	T	0.58747	-0.7582	10	0.66056	D	0.02	-20.7858	19.3618	0.94442	0.0:1.0:0.0:0.0	.	46;475;129;475;475	B7Z2P1;A8K132;Q68D38;O94925;O94925-3	.;.;.;GLSK_HUMAN;.	Y	475;475;46;46	ENSP00000317379:H475Y;ENSP00000340689:H475Y;ENSP00000386417:H46Y;ENSP00000395596:H46Y	ENSP00000317379:H475Y	H	+	1	0	GLS	191500451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.794000	0.96219	0.650000	0.86243	CAT		0.363	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			T	191792206	C	T	191792206	3	4	604	1	0	0	0	0	1	0	0	0	6465	594	21	2	1469	2	GLS	2	191792206	Missense_Mutation	SNP	C	TCGA-CZ-5984-01A-11D-1669-08	147355837	191792206	51407167	6	33105											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191622	10191623	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr3:10191622_10191623insA	ENST00000256474.2	+	3	1455_1456	c.615_616insA	c.(616-618)attfs	p.I206fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Ins_p.I165fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	206					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I206fs*10(2)|p.I206fs*>9(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACAGGAGCGCATTGCACATCA	0.465		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	3	Complex - frameshift(2)|Insertion - Frameshift(1)	kidney(3)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.616dupA	3.37:g.10191623_10191623dupA	ENSP00000256474:p.Ile206fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.465	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		A	10191623	-	A	10191622	7	5	604	1	0	1	1	0	0	0	0	0	17167	697	25	0	625	0	VHL	3	10191622	Frame_Shift_Ins	INS	-	TCGA-CZ-5984-01A-11D-1669-08		10191622	187830808	7	33106											
NPNT	255743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	106848542	106848542	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr4:106848542G>T	ENST00000379987.2	+	3	438	c.222G>T	c.(220-222)aaG>aaT	p.K74N	NPNT_ENST00000305572.8_Missense_Mutation_p.K74N|NPNT_ENST00000427316.2_Missense_Mutation_p.K74N|NPNT_ENST00000506666.1_Missense_Mutation_p.K74N|RP11-710F7.2_ENST00000512514.1_RNA|NPNT_ENST00000514622.1_Missense_Mutation_p.K74N|RP11-710F7.2_ENST00000511059.1_RNA|NPNT_ENST00000453617.2_Missense_Mutation_p.K91N|NPNT_ENST00000513430.1_3'UTR	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	74	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.K74N(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GGCCAAACAAGTGCAAGTGTC	0.423																																																1	Substitution - Missense(1)	kidney(1)											143	116	125					4																	106848542		2203	4300	6503	SO:0001583	missense	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.222G>T	4.37:g.106848542G>T	ENSP00000369323:p.Lys74Asn		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.947806|3.947806	0.73787|0.73787	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	D;D;T;D;D;T;T|.	0.87412|.	-2.25;-2.25;0.94;-2.25;-2.25;0.94;-0.24|.	5.77|5.77	4.93|4.93	0.64822|0.64822	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62085|0.62085	0.2399|0.2399	L|L	0.56199|0.56199	1.76|1.76	0.47123|0.47123	D|D	0.999327|0.999327	D;P;P;D;D;D|.	0.76494|.	0.999;0.609;0.609;0.983;0.988;0.999|.	D;B;B;P;P;D|.	0.72625|.	0.972;0.253;0.436;0.833;0.896;0.978|.	T|T	0.60672|0.60672	-0.7217|-0.7217	10|5	0.51188|.	T|.	0.08|.	.|.	11.655|11.655	0.51313|0.51313	0.1446:0.0:0.8554:0.0|0.1446:0.0:0.8554:0.0	.|.	74;74;74;91;74;74|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;NPNT_HUMAN|.	N|L	74;91;74;74;74;74;91|51	ENSP00000369323:K74N;ENSP00000402884:K91N;ENSP00000389252:K74N;ENSP00000422044:K74N;ENSP00000302557:K74N;ENSP00000422474:K74N;ENSP00000426146:K91N|.	ENSP00000302557:K74N|.	K|V	+|+	3|1	2|0	NPNT|NPNT	107067991|107067991	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	2.482000|2.482000	0.45224|0.45224	1.571000|1.571000	0.49722|0.49722	0.650000|0.650000	0.86243|0.86243	AAG|GTG		0.423	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		T	106848542	G	T	106848542	3	4	604	1	0	0	0	0	1	0	0	0	10592	1020	36	4	287	4	NPNT	4	106848542	Missense_Mutation	SNP	G	TCGA-CZ-5984-01A-11D-1669-08		106848542	84305734	8	33107											
ADAMTS19	171019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	129015567	129015567	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr5:129015567G>A	ENST00000274487.4	+	17	2744	c.2599G>A	c.(2599-2601)Gag>Aag	p.E867K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	867	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E867K(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGGCCTCTGGGAGAAGATCTC	0.433																																																1	Substitution - Missense(1)	kidney(1)											104	101	102					5																	129015567		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2599G>A	5.37:g.129015567G>A	ENSP00000274487:p.Glu867Lys			Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253362	0.95336	.	.	ENSG00000145808	ENST00000274487	T	0.64438	-0.1	4.54	4.54	0.55810	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	D	0.83899	0.5354	M	0.94142	3.5	0.80722	D	1	D	0.63046	0.992	P	0.62885	0.908	D	0.88608	0.3154	9	.	.	.	.	18.6008	0.91247	0.0:0.0:1.0:0.0	.	867	Q8TE59	ATS19_HUMAN	K	867	ENSP00000274487:E867K	.	E	+	1	0	ADAMTS19	129043466	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.820000	0.92003	2.794000	0.96219	0.650000	0.86243	GAG		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		A	129015567	G	A	129015567	3	1	604	1	0	0	0	0	1	0	0	0	264	1175	41	2	2665	2	ADAMTS19	5	129015567	Missense_Mutation	SNP	G	TCGA-CZ-5984-01A-11D-1669-08		129015567	51899693	9	33108											
KIF20A	10112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137522079	137522079	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr5:137522079C>T	ENST00000394894.3	+	18	2540	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C	KIF20A_ENST00000508792.1_Missense_Mutation_p.R754C	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	772	Globular. {ECO:0000255}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.R772C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGGAAAACTTCGTCAAGCCTT	0.473																																																1	Substitution - Missense(1)	kidney(1)											90	84	86					5																	137522079		2203	4300	6503	SO:0001583	missense	10112			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.2314C>T	5.37:g.137522079C>T	ENSP00000378356:p.Arg772Cys		B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822500	0.71028	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.73258	-0.66;-0.73	5.98	5.98	0.97165	.	0.000000	0.44688	D	0.000422	T	0.81721	0.4882	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.82416	-0.0468	10	0.87932	D	0	-11.4668	15.1856	0.72999	0.1409:0.8591:0.0:0.0	.	754;772	B4DL79;O95235	.;KI20A_HUMAN	C	772;754	ENSP00000378356:R772C;ENSP00000420880:R754C	ENSP00000378356:R772C	R	+	1	0	KIF20A	137549978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.991000	0.49409	2.836000	0.97738	0.655000	0.94253	CGT		0.473	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		T	137522079	C	T	137522079	3	4	604	1	0	0	0	0	1	0	0	0	8288	884	31	1	2380	1	KIF20A	5	137522079	Missense_Mutation	SNP	C	TCGA-CZ-5984-01A-11D-1669-08	8506512	137522079	43393181	10	33109											
PCDHA5	56143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140201426	140201426	+	Silent	SNP	C	C	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr5:140201426C>T	ENST00000529859.1	+	1	66	c.66C>T	c.(64-66)taC>taT	p.Y22Y	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.Y22Y|PCDHA5_ENST00000378126.3_Silent_p.Y22Y|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	22					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Y22Y(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTGCCTACTGGAAGGCAG	0.577																																																2	Substitution - coding silent(2)	kidney(2)											57	64	62					5																	140201426		2203	4300	6503	SO:0001819	synonymous_variant	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.66C>T	5.37:g.140201426C>T			O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	CCDS54917.1																																																																																				0.577	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		T	140201426	C	T	140201426	2	4	604	1	0	0	0	0	0	0	0	1	11529	576	20	2		2	PCDHA5	5	140201426	Silent	SNP	C	TCGA-CZ-5984-01A-11D-1669-08	2679347	140201426	40713834	11	33110											
PCDHB15	56121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140625765	140625765	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr5:140625765G>A	ENST00000231173.3	+	1	619	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	207	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E207K(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGCCGAGCTCAGATT	0.577																																																1	Substitution - Missense(1)	kidney(1)											58	56	57					5																	140625765		2203	4300	6503	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.619G>A	5.37:g.140625765G>A	ENSP00000231173:p.Glu207Lys		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472760	0.43942	.	.	ENSG00000113248	ENST00000231173	T	0.52526	0.66	4.92	2.1	0.27182	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.53802	0.1819	M	0.88377	2.95	0.09310	N	1	B	0.27286	0.174	B	0.36666	0.23	T	0.53872	-0.8377	9	0.40728	T	0.16	.	3.7835	0.08690	0.0728:0.2442:0.3102:0.3728	.	207	Q9Y5E8	PCDBF_HUMAN	K	207	ENSP00000231173:E207K	ENSP00000231173:E207K	E	+	1	0	PCDHB15	140605949	0.000000	0.05858	0.159000	0.22649	0.869000	0.49853	-0.452000	0.06787	0.202000	0.20498	-0.324000	0.08512	GAG		0.577	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		A	140625765	G	A	140625765	3	1	604	1	0	0	0	0	1	0	0	0	11542	1059	37	1	621	1	PCDHB15	5	140625765	Missense_Mutation	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	424339	140625765	40289495	12	33111											
PCDHGB5	56102	broad.mit.edu;hgsc.bcm.edu	37	5	140778135	140778135	+	Intron	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr5:140778135G>T	ENST00000576222.1	+	1	2546				PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	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)			AGTCTGCACAGCCTGGCACAA	0.393																																																0													66	66	66					5																	140778135		1888	4124	6012	SO:0001627	intron_variant	56101			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25759G>T	5.37:g.140778135G>T			A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.393	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		T	140778135	G	T	140778135	1	4	604	0	1	0	0	0	0	0	0	0	11568	962	34	4		4	PCDHGB5	5	140778135	Intron	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	152370	140778135	40137125	13	33112											
SRF	6722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43146557	43146557	+	Silent	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr6:43146557G>A	ENST00000265354.4	+	6	1726	c.1368G>A	c.(1366-1368)caG>caA	p.Q456Q	SRF_ENST00000457278.2_Silent_p.Q252Q	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	456					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)	p.Q456Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCGTCCCCCAGGTGTTCCTGA	0.493																																																1	Substitution - coding silent(1)	kidney(1)											237	221	226					6																	43146557		2203	4300	6503	SO:0001819	synonymous_variant	6722			J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.1368G>A	6.37:g.43146557G>A			Q5T648	Silent	SNP	ENST00000265354.4	37	CCDS4889.1																																																																																				0.493	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		A	43146557	G	A	43146557	2	1	604	1	0	0	0	0	0	0	0	1	15148	991	35	2		2	SRF	6	43146557	Silent	SNP	G	TCGA-CZ-5984-01A-11D-1669-08		43146557	127968510	14	33113											
COL12A1	1303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	75861721	75861721	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr6:75861721G>T	ENST00000322507.8	-	20	4171	c.3862C>A	c.(3862-3864)Cag>Aag	p.Q1288K	COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1288K|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1288K|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q124K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1288	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.Q1288K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGAAGTTCTGTTGGCGAATG	0.433																																																1	Substitution - Missense(1)	kidney(1)											162	157	159					6																	75861721		1936	4157	6093	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3862C>A	6.37:g.75861721G>T	ENSP00000325146:p.Gln1288Lys		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.89|11.89	1.774569|1.774569	0.31411|0.31411	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	D;D;D;D|.	0.83419|.	-1.72;-1.72;-1.72;-1.72|.	5.74|5.74	4.8|4.8	0.61643|0.61643	von Willebrand factor, type A (3);|.	0.150792|.	0.44285|.	D|.	0.000471|.	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.11201|0.11201	0.11|0.11	0.36229|0.36229	D|D	0.852509|0.852509	B;B|.	0.12630|.	0.0;0.006|.	B;B|.	0.15052|.	0.003;0.012|.	T|T	0.06716|0.06716	-1.0811|-1.0811	10|5	0.33141|.	T|.	0.24|.	.|.	11.4307|11.4307	0.50038|0.50038	0.0:0.0:0.6088:0.3912|0.0:0.0:0.6088:0.3912	.|.	124;1288|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	K|K	1288;1288;124;1288;1288|29	ENSP00000325146:Q1288K;ENSP00000305147:Q124K;ENSP00000412864:Q1288K;ENSP00000421216:Q1288K|.	ENSP00000325146:Q1288K|.	Q|T	-|-	1|2	0|0	COL12A1|COL12A1	75918441|75918441	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.884000|0.884000	0.51177|0.51177	5.442000|5.442000	0.66575|0.66575	2.725000|2.725000	0.93324|0.93324	0.644000|0.644000	0.83932|0.83932	CAG|ACA		0.433	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		T	75861721	G	T	75861721	3	4	604	1	0	0	0	0	1	0	0	0	3671	1386	48	4	5517	4	COL12A1	6	75861721	Missense_Mutation	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	32715164	75861721	95253346	15	33114											
SHPRH	257218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	146273498	146273498	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr6:146273498A>T	ENST00000367505.2	-	3	1014	c.750T>A	c.(748-750)aaT>aaA	p.N250K	SHPRH_ENST00000275233.7_Missense_Mutation_p.N250K|SHPRH_ENST00000438092.2_Missense_Mutation_p.N250K|SHPRH_ENST00000367503.3_Missense_Mutation_p.N250K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	250					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N250K(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GAATAATAGAATTGTGTAACT	0.328																																																1	Substitution - Missense(1)	kidney(1)											52	49	50					6																	146273498		1800	4055	5855	SO:0001583	missense	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.750T>A	6.37:g.146273498A>T	ENSP00000356475:p.Asn250Lys		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	9.779	1.174842	0.21704	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.72942	-0.69;-0.7;-0.69;-0.69	4.74	3.61	0.41365	.	0.484846	0.21193	N	0.078611	T	0.41696	0.1170	L	0.43152	1.355	0.33171	D	0.548324	B;B;B;P	0.39782	0.275;0.059;0.098;0.688	B;B;B;B	0.37387	0.055;0.022;0.079;0.248	T	0.40646	-0.9552	10	0.36615	T	0.2	-7.2754	5.4768	0.16700	0.6979:0.0:0.3021:0.0	.	139;250;250;139	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	K	250;250;250;250;139	ENSP00000356475:N250K;ENSP00000356473:N250K;ENSP00000412797:N250K;ENSP00000275233:N250K	ENSP00000275233:N250K	N	-	3	2	SHPRH	146315191	1.000000	0.71417	0.230000	0.23976	0.192000	0.23643	2.078000	0.41567	1.770000	0.52166	0.528000	0.53228	AAT		0.328	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		T	146273498	A	T	146273498	3	4	604	1	0	0	0	0	1	0	0	0	14297	98	4	5	4457	5	SHPRH	6	146273498	Missense_Mutation	SNP	A	TCGA-CZ-5984-01A-11D-1669-08	70411777	146273498	24841569	16	33115											
EVX1	2128	hgsc.bcm.edu	37	7	27285647	27285648	+	In_Frame_Ins	INS	-	-	CCTGCC	rs143308454		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr7:27285647_27285648insCCTGCC	ENST00000496902.4	+	3	1313_1314	c.827_828insCCTGCC	c.(826-831)cacctg>caCCTGCCcctg	p.279_280insPL	EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_In_Frame_Ins_p.97_98insPL			P49640	EVX1_HUMAN	even-skipped homeobox 1	279					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TTCCCATCGCACCTGCCCCTGC	0.743																																																0										21,4077		0,21,2028						5.3	1			14	99,7897		2,95,3901	no	coding	EVX1	NM_001989.3		2,116,5929	A1A1,A1R,RR		1.2381,0.5124,0.9922				120,11974				SO:0001652	inframe_insertion	2128				CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.834_839dupCCTGCC	7.37:g.27285648_27285653dupCCTGCC	ENSP00000419266:p.Pro278_Leu279dup		A4D199|B4DQJ0	In_Frame_Ins	INS	ENST00000496902.4	37	CCDS5413.1																																																																																				0.743	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			CCTGCC	27285648	-	CCTGCC	27285647	7	5	604	1	0	1	1	0	0	0	0	0	5296	159	6	0	837	0	EVX1	7	27285647	In_Frame_Ins	INS	-	TCGA-CZ-5984-01A-11D-1669-08		27285647	131853016	17	33116											
BMPER	168667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	34085973	34085973	+	Missense_Mutation	SNP	A	A	G	rs200035524		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr7:34085973A>G	ENST00000297161.2	+	8	1006	c.632A>G	c.(631-633)cAc>cGc	p.H211R	BMPER_ENST00000426693.1_Missense_Mutation_p.H211R|BMPER_ENST00000494786.1_3'UTR	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	211	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.H211R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGTCCCCAGCACCTTAGTCAC	0.423													A|||	1	0.000199681	0.0	0.0	5008	,	,		20469	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											149	136	141					7																	34085973		2203	4300	6503	SO:0001583	missense	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.632A>G	7.37:g.34085973A>G	ENSP00000297161:p.His211Arg		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	15.46	2.840266	0.51057	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.71103	-0.54;-0.54	5.83	5.83	0.93111	von Willebrand factor, type C (4);	0.089780	0.85682	D	0.000000	T	0.65059	0.2655	L	0.50333	1.59	0.58432	D	0.999999	B	0.16166	0.016	B	0.19148	0.024	T	0.60271	-0.7296	10	0.16420	T	0.52	.	15.8572	0.78989	1.0:0.0:0.0:0.0	.	211	Q8N8U9	BMPER_HUMAN	R	211	ENSP00000297161:H211R;ENSP00000393950:H211R	ENSP00000297161:H211R	H	+	2	0	BMPER	34052498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.847000	0.86896	2.226000	0.72624	0.533000	0.62120	CAC		0.423	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		G	34085973	A	G	34085973	3	3	604	1	0	0	0	0	1	0	0	0	1468	159	6	3	658	3	BMPER	7	34085973	Missense_Mutation	SNP	A	TCGA-CZ-5984-01A-11D-1669-08	6800326	34085973	125052690	18	33117											
LRWD1	222229	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	102106463	102106463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr7:102106463G>T	ENST00000292616.5	+	2	432	c.280G>T	c.(280-282)Gag>Tag	p.E94*	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	94					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.E94*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCCCAAGCTCGAGGAACTCAG	0.637																																																1	Substitution - Nonsense(1)	kidney(1)											46	45	45					7																	102106463		2203	4300	6503	SO:0001587	stop_gained	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.280G>T	7.37:g.102106463G>T	ENSP00000292616:p.Glu94*		A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Nonsense_Mutation	SNP	ENST00000292616.5	37	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241923	0.58995	.	.	ENSG00000161036	ENST00000292616	.	.	.	5.19	4.28	0.50868	.	0.101651	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-18.4142	14.5303	0.67920	0.0:0.1475:0.8525:0.0	.	.	.	.	X	94	.	ENSP00000292616:E94X	E	+	1	0	LRWD1	101893468	1.000000	0.71417	0.809000	0.32408	0.259000	0.26198	5.608000	0.67654	1.138000	0.42230	0.561000	0.74099	GAG		0.637	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		T	102106463	G	T	102106463	4	4	604	1	0	0	0	0	0	1	0	0	9049	1059	37	4	286	4	LRWD1	7	102106463	Nonsense_Mutation	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	68020490	102106463	57032200	19	33118											
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																																1	Substitution - coding silent(1)	kidney(1)											37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G			A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		G	114269973	A	G	114269973	2	3	604	1	0	0	0	0	0	0	0	1	6029	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-CZ-5984-01A-11D-1669-08	12163510	114269973	44868690	20	33119											
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106811085	106811085	+	Silent	SNP	C	C	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr8:106811085C>A	ENST00000407775.2	+	7	1123	c.873C>A	c.(871-873)gcC>gcA	p.A291A	ZFPM2_ENST00000520492.1_Silent_p.A159A|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.A159A|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.A22A	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	291					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A291A(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGACAGTGCCCATCAGATTT	0.512																																																1	Substitution - coding silent(1)	kidney(1)											125	129	128					8																	106811085		2079	4235	6314	SO:0001819	synonymous_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.873C>A	8.37:g.106811085C>A			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																				0.512	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			A	106811085	C	A	106811085	2	1	604	1	0	0	0	0	0	0	0	1	17663	610	22	4		4	ZFPM2	8	106811085	Silent	SNP	C	TCGA-CZ-5984-01A-11D-1669-08		106811085	39552937	21	33120											
DNAJB5	25822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	34997035	34997035	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr9:34997035T>C	ENST00000541010.1	+	3	3838	c.826T>C	c.(826-828)Tgc>Cgc	p.C276R	DNAJB5_ENST00000453597.3_Missense_Mutation_p.C390R|DNAJB5_ENST00000454002.2_Missense_Mutation_p.C348R|DNAJB5_ENST00000545841.1_Missense_Mutation_p.C276R|DNAJB5_ENST00000335998.3_Missense_Mutation_p.C310R|DNAJB5_ENST00000312316.5_Missense_Mutation_p.C276R			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	276					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)	p.C276R(1)|p.C390R(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCTGTGTGGCTGCACTGTGAA	0.552																																																2	Substitution - Missense(2)	kidney(2)											176	171	172					9																	34997035		2203	4300	6503	SO:0001583	missense	25822			AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"Heat shock proteins / DNAJ (HSP40)"	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.826T>C	9.37:g.34997035T>C	ENSP00000443151:p.Cys276Arg		B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	ENST00000541010.1	37	CCDS35007.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034729	0.75617	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.37	5.37	0.77165	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.77004	0.989;0.972	T	0.74538	-0.3632	10	0.37606	T	0.19	.	14.7075	0.69203	0.0:0.0:0.0:1.0	.	348;276	B4DSA6;O75953	.;DNJB5_HUMAN	R	390;310;276;276;276;348;276	ENSP00000404079:C390R;ENSP00000337626:C310R;ENSP00000312517:C276R;ENSP00000443151:C276R;ENSP00000413684:C348R;ENSP00000441999:C276R	ENSP00000312517:C276R	C	+	1	0	DNAJB5	34987035	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.132000	0.71676	2.248000	0.74166	0.459000	0.35465	TGC		0.552	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			C	34997035	T	C	34997035	3	2	604	1	0	0	0	0	1	0	0	0	4625	1580	55	3	1056	3	DNAJB5	9	34997035	Missense_Mutation	SNP	T	TCGA-CZ-5984-01A-11D-1669-08		34997035	106216396	22	33121											
GCNT1	2650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79118095	79118095	+	Silent	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr9:79118095G>T	ENST00000376730.4	+	4	1281	c.798G>T	c.(796-798)ctG>ctT	p.L266L	GCNT1_ENST00000442371.1_Silent_p.L266L|GCNT1_ENST00000444201.2_Silent_p.L266L|GCNT1_ENST00000536223.1_Silent_p.L266L	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	266	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.L266L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ATGGAAAGCTGACAAACACAG	0.468																																																1	Substitution - coding silent(1)	kidney(1)											116	91	100					9																	79118095		2203	4300	6503	SO:0001819	synonymous_variant	2650			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.798G>T	9.37:g.79118095G>T			Q6DJZ4	Silent	SNP	ENST00000376730.4	37	CCDS6653.1																																																																																				0.468	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		T	79118095	G	T	79118095	2	4	604	1	0	0	0	0	0	0	0	1	6302	1277	45	4		4	GCNT1	9	79118095	Silent	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	44121060	79118095	62095336	23	33122											
C9orf103	414328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86258688	86258688	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr9:86258688T>C	ENST00000376419.4	+	5	561	c.557T>C	c.(556-558)aTg>aCg	p.M186T	IDNK_ENST00000277124.8_Missense_Mutation_p.M140T|IDNK_ENST00000454393.1_Missense_Mutation_p.M229T|IDNK_ENST00000405990.3_3'UTR	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	186					D-gluconate catabolic process (GO:0046177)		ATP binding (GO:0005524)|gluconokinase activity (GO:0046316)	p.M140T(1)									ACCCTAAAAATGAAATGACAA	0.408																																																1	Substitution - Missense(1)	kidney(1)											34	38	36					9																	86258688		2197	4299	6496	SO:0001583	missense	0			BC036421	CCDS35048.1, CCDS35048.2, CCDS59134.1	9q21.32	2012-03-30	2012-03-30	2012-03-30	ENSG00000148057	ENSG00000148057			31367	protein-coding gene	gene with protein product		611343	"chromosome 9 open reading frame 103"	C9orf103			Standard	NM_001001551		Approved	bA522I20.2	uc004amu.3	Q5T6J7	OTTHUMG00000020105	ENST00000376419.4:c.557T>C	9.37:g.86258688T>C	ENSP00000365601:p.Met186Thr		A5PLN6|Q5T6J6	Missense_Mutation	SNP	ENST00000376419.4	37	CCDS35048.2	.	.	.	.	.	.	.	.	.	.	T	7.341	0.620980	0.14193	.	.	ENSG00000148057	ENST00000277124;ENST00000376419;ENST00000454393	T;T;T	0.29917	1.55;1.55;1.55	4.92	-2.47	0.06442	.	2.038640	0.02260	N	0.067451	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11155	-1.0599	10	0.12103	T	0.63	-21.9416	1.0034	0.01482	0.1986:0.2205:0.3373:0.2436	.	186	Q5T6J7	GNTK_HUMAN	T	140;186;229	ENSP00000277124:M140T;ENSP00000365601:M186T;ENSP00000403290:M229T	ENSP00000277124:M140T	M	+	2	0	C9orf103	85448508	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.107000	0.15375	-0.046000	0.13446	-0.328000	0.08392	ATG		0.408	IDNK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052837.2	NM_001001551		C	86258688	T	C	86258688	3	2	604	1	0	0	0	0	1	0	0	0	2448	1464	51	3	429	3	C9orf103	9	86258688	Missense_Mutation	SNP	T	TCGA-CZ-5984-01A-11D-1669-08	7140593	86258688	54954743	24	33123											
CSGALNACT2	55454	hgsc.bcm.edu;ucsc.edu	37	10	43654206	43654207	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr10:43654206_43654207insT	ENST00000374466.3	+	3	1040_1041	c.705_706insT	c.(706-708)tttfs	p.F236fs	CSGALNACT2_ENST00000374464.1_Frame_Shift_Ins_p.F236fs	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	236					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGTATGAACTCTTTTTTAAGAA	0.401																																																0																																										SO:0001589	frameshift_variant	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.711dupT	10.37:g.43654212_43654212dupT	ENSP00000363590:p.Phe236fs		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Frame_Shift_Ins	INS	ENST00000374466.3	37	CCDS7201.1																																																																																				0.401	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		T	43654207	-	T	43654206	7	5	604	1	0	1	1	0	0	0	0	0	3941	900	32	0	711	0	CSGALNACT2	10	43654206	Frame_Shift_Ins	INS	-	TCGA-CZ-5984-01A-11D-1669-08		43654206	91880541	25	33124											
ANXA7	310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75155821	75155821	+	Intron	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr10:75155821G>A	ENST00000372921.5	-	5	492				ANXA7_ENST00000535178.1_Intron|ANXA7_ENST00000492380.1_Intron	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7						autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.S161F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ATAATCCAAAGAAACAGGAGA	0.333																																																1	Substitution - Missense(1)	kidney(1)											89	87	88					10																	75155821		2203	4300	6503	SO:0001627	intron_variant	310			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.435+455C>T	10.37:g.75155821G>A			Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	8.464	0.855994	0.17106	.	.	ENSG00000138279	ENST00000372919	T	0.04862	3.54	5.95	5.05	0.67936	.	0.000000	0.41823	U	0.000813	T	0.04137	0.0115	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40608	-0.9554	10	0.66056	D	0.02	.	11.1473	0.48438	0.0842:0.0:0.9158:0.0	.	161	P20073	ANXA7_HUMAN	F	161	ENSP00000362010:S161F	ENSP00000362010:S161F	S	-	2	0	ANXA7	74825827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.001000	0.49488	1.537000	0.49254	0.655000	0.94253	TCT		0.333	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		A	75155821	G	A	75155821	1	1	604	0	1	0	0	0	0	0	0	0	723	942	33	2		2	ANXA7	10	75155821	Intron	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	31501615	75155821	60378926	26	33125											
WAPAL	23063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	88259942	88259942	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr10:88259942C>A	ENST00000298767.5	-	3	1530	c.1058G>T	c.(1057-1059)gGa>gTa	p.G353V		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	353	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.G353V(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TCTAGTCCGTCCAACTGTCCC	0.448																																																1	Substitution - Missense(1)	kidney(1)											179	153	162					10																	88259942		2203	4300	6503	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1058G>T	10.37:g.88259942C>A	ENSP00000298767:p.Gly353Val		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435364	0.62955	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.32515	1.45	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.55398	-0.8147	10	0.87932	D	0	.	17.1473	0.86769	0.0:1.0:0.0:0.0	.	353;353;396	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	V	438;353;438	ENSP00000298767:G353V	ENSP00000298767:G353V	G	-	2	0	WAPAL	88249922	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.860000	0.55995	2.462000	0.83206	0.650000	0.86243	GGA		0.448	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		A	88259942	C	A	88259942	3	1	604	1	0	0	0	0	1	0	0	0	17253	855	30	4	2582	4	WAPAL	10	88259942	Missense_Mutation	SNP	C	TCGA-CZ-5984-01A-11D-1669-08	13104121	88259942	47274805	27	33126											
PNLIPRP3	119548	hgsc.bcm.edu;ucsc.edu	37	10	118220558	118220558	+	Missense_Mutation	SNP	G	G	T	rs114674677	byFrequency	TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr10:118220558G>T	ENST00000369230.3	+	6	792	c.646G>T	c.(646-648)Gtt>Ttt	p.V216F		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	216					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.V216I(1)|p.V216F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTTGTTGACGTTATTCATAC	0.438																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											140	125	130					10																	118220558		2203	4300	6503	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.646G>T	10.37:g.118220558G>T	ENSP00000358232:p.Val216Phe			Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017006	0.75161	.	.	ENSG00000203837	ENST00000369230	D	0.92397	-3.03	4.93	2.85	0.33270	Lipase, N-terminal (1);	0.119302	0.34959	N	0.003545	D	0.95993	0.8695	M	0.90309	3.105	0.28844	N	0.896435	D	0.89917	1.0	D	0.76071	0.987	D	0.91434	0.5168	10	0.87932	D	0	.	10.1136	0.42576	0.2401:0.0:0.7599:0.0	.	216	Q17RR3	LIPR3_HUMAN	F	216	ENSP00000358232:V216F	ENSP00000358232:V216F	V	+	1	0	PNLIPRP3	118210548	0.981000	0.34729	0.006000	0.13384	0.586000	0.36452	1.605000	0.36815	0.537000	0.28751	0.591000	0.81541	GTT		0.438	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		T	118220558	G	T	118220558	3	4	604	1	0	0	0	0	1	0	0	0	12154	1145	40	4	668	4	PNLIPRP3	10	118220558	Missense_Mutation	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	29960616	118220558	17314189	28	33127											
ALDH3B2	222	broad.mit.edu	37	11	67433825	67433825	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr11:67433825T>C	ENST00000349015.3	-	5	637	c.199A>G	c.(199-201)Aag>Gag	p.K67E	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.K67E|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	67					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.K67E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GCCAGGACCTTCTCTGTGCCC	0.657																																																1	Substitution - Missense(1)	kidney(1)											26	26	26					11																	67433825		2199	4293	6492	SO:0001583	missense	222			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"Aldehyde dehydrogenases"	411	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 8", "acetaldehyde dehydrogenase 8"	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.199A>G	11.37:g.67433825T>C	ENSP00000255084:p.Lys67Glu		Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822755	0.32237	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827;ENST00000528756	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	4.2	3.01	0.34805	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.290348	0.37715	N	0.001966	T	0.61148	0.2324	L	0.31420	0.93	0.38613	D	0.950947	B	0.20368	0.044	B	0.25614	0.062	T	0.55554	-0.8123	10	0.30854	T	0.27	.	10.1468	0.42769	0.0:0.0:0.3194:0.6806	.	67	P48448	AL3B2_HUMAN	E	67	ENSP00000431595:K67E;ENSP00000255084:K67E;ENSP00000433718:K67E;ENSP00000433466:K67E	ENSP00000255084:K67E	K	-	1	0	ALDH3B2	67190401	0.000000	0.05858	0.971000	0.41717	0.595000	0.36748	0.854000	0.27791	0.708000	0.31955	0.533000	0.62120	AAG		0.657	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		C	67433825	T	C	67433825	3	2	604	1	0	0	0	0	1	0	0	0	500	1792	62	3	982	3	ALDH3B2	11	67433825	Missense_Mutation	SNP	T	TCGA-CZ-5984-01A-11D-1669-08		67433825	67572691	29	33128											
SMUG1	23583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54577492	54577492	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr12:54577492T>C	ENST00000508394.2	-	2	295	c.233A>G	c.(232-234)gAa>gGa	p.E78G	SMUG1_ENST00000505128.1_Missense_Mutation_p.E78G|SMUG1_ENST00000506595.1_Missense_Mutation_p.E78G|SMUG1_ENST00000337581.3_Missense_Mutation_p.E78G|SMUG1_ENST00000505662.1_Intron|SMUG1_ENST00000513838.1_Missense_Mutation_p.E78G|SMUG1_ENST00000514196.1_Missense_Mutation_p.E78G|SMUG1_ENST00000401977.2_Missense_Mutation_p.E78G|SMUG1_ENST00000243112.5_Missense_Mutation_p.E78G|SMUG1_ENST00000514685.1_Missense_Mutation_p.E78G	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	78				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)	p.E78G(1)		kidney(1)|large_intestine(4)|lung(1)	6						GAAGAGTACTTCCTTGGGGCC	0.582								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	kidney(1)											73	65	68					12																	54577492		2203	4300	6503	SO:0001583	missense	23583			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.233A>G	12.37:g.54577492T>C	ENSP00000424191:p.Glu78Gly		A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040959	0.35989	.	.	ENSG00000123415	ENST00000506595;ENST00000514685;ENST00000505128;ENST00000337581;ENST00000508394;ENST00000513838;ENST00000243112;ENST00000401977;ENST00000514196;ENST00000504338;ENST00000507904;ENST00000503447;ENST00000504797;ENST00000506169;ENST00000503306	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.61	4.61	0.57282	Uracil-DNA glycosylase-like (3);	0.738470	0.13842	N	0.358934	T	0.44307	0.1287	L	0.43152	1.355	0.38601	D	0.95065	B;P;P	0.46142	0.072;0.873;0.859	B;P;B	0.47346	0.036;0.544;0.249	T	0.45775	-0.9238	10	0.49607	T	0.09	.	13.4296	0.61046	0.0:0.0:0.0:1.0	.	78;78;78	Q53HV7;D6RAI1;Q53HV7-2	SMUG1_HUMAN;.;.	G	78	ENSP00000421206:E78G;ENSP00000421139:E78G;ENSP00000421894:E78G;ENSP00000338606:E78G;ENSP00000424191:E78G;ENSP00000423629:E78G;ENSP00000243112:E78G;ENSP00000384828:E78G;ENSP00000425974:E78G;ENSP00000423083:E78G;ENSP00000423457:E78G;ENSP00000421790:E78G;ENSP00000427547:E78G;ENSP00000425426:E78G	ENSP00000243112:E78G	E	-	2	0	SMUG1	52863759	0.452000	0.25713	1.000000	0.80357	0.961000	0.63080	1.180000	0.32005	2.070000	0.61991	0.482000	0.46254	GAA		0.582	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		C	54577492	T	C	54577492	3	2	604	1	0	0	0	0	1	0	0	0	14824	1783	62	3	587	3	SMUG1	12	54577492	Missense_Mutation	SNP	T	TCGA-CZ-5984-01A-11D-1669-08		54577492	79274403	30	33129											
COQ6	51004	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74420179	74420179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr14:74420179G>T	ENST00000334571.2	+	2	245	c.205G>T	c.(205-207)Gaa>Taa	p.E69*	COQ6_ENST00000394026.4_Nonsense_Mutation_p.E44*|COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000554920.1_Nonsense_Mutation_p.E69*|COQ6_ENST00000238709.4_Silent_p.S13S	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	69					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)	p.E69*(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CCTGTTGCTCGAAGCAGGTCC	0.383																																																1	Substitution - Nonsense(1)	kidney(1)											87	85	86					14																	74420179		2203	4300	6503	SO:0001587	stop_gained	51004			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"coenzyme Q6 homolog (yeast)", "coenzyme Q6 homolog, monooxygenase (yeast)", "coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.205G>T	14.37:g.74420179G>T	ENSP00000333946:p.Glu69*		B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Nonsense_Mutation	SNP	ENST00000334571.2	37	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824075	0.90873	.	.	ENSG00000119723	ENST00000394026;ENST00000334571;ENST00000556300;ENST00000554920;ENST00000545052	.	.	.	5.37	4.48	0.54585	.	0.045812	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.1745	14.0967	0.65027	0.0714:0.0:0.9286:0.0	.	.	.	.	X	44;69;69;69;69	.	ENSP00000333946:E69X	E	+	1	0	COQ6	73489932	1.000000	0.71417	0.990000	0.47175	0.916000	0.54674	9.134000	0.94467	1.531000	0.49152	0.650000	0.86243	GAA		0.383	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			T	74420179	G	T	74420179	4	4	604	1	0	0	0	0	0	1	0	0	3751	1059	37	4	211	4	COQ6	14	74420179	Nonsense_Mutation	SNP	G	TCGA-CZ-5984-01A-11D-1669-08		74420179	32929361	31	33130											
ALDH6A1	4329	broad.mit.edu;hgsc.bcm.edu	37	14	74531621	74531621	+	Silent	SNP	C	C	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr14:74531621C>A	ENST00000553458.1	-	11	1505	c.1407G>T	c.(1405-1407)gtG>gtT	p.V469V	CCDC176_ENST00000394009.3_3'UTR|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_Silent_p.V186V|ALDH6A1_ENST00000350259.4_Silent_p.V456V|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	469					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)	p.V469V(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		CATTCACTCCCACCTAAAACA	0.448																																																1	Substitution - coding silent(1)	kidney(1)											38	39	38					14																	74531621		2203	4300	6503	SO:0001819	synonymous_variant	4329			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"Aldehyde dehydrogenases"	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.1407G>T	14.37:g.74531621C>A			B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	ENST00000553458.1	37	CCDS9826.1																																																																																				0.448	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			A	74531621	C	A	74531621	2	1	604	1	0	0	0	0	0	0	0	1	503	581	21	4		4	ALDH6A1	14	74531621	Silent	SNP	C	TCGA-CZ-5984-01A-11D-1669-08	111442	74531621	32817919	32	33131											
TTC7B	145567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	91123577	91123577	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr14:91123577G>A	ENST00000328459.6	-	11	1403	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	TTC7B_ENST00000357056.2_Missense_Mutation_p.P428S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	428								p.P428S(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GCATCGTCTGGCTTCAGGCGG	0.577																																																1	Substitution - Missense(1)	kidney(1)											82	78	80					14																	91123577		2203	4300	6503	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1282C>T	14.37:g.91123577G>A	ENSP00000336127:p.Pro428Ser		Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.174271|4.174271	0.78452|0.78452	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000554462|ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	.|D;D	.|0.89196	.|-2.48;-2.48	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94984|0.94984	0.8377|0.8377	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.94685|0.94685	0.7869|0.7869	5|10	.|0.52906	.|T	.|0.07	-25.7517|-25.7517	19.4363|19.4363	0.94796|0.94796	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|428	.|Q86TV6	.|TTC7B_HUMAN	V|S	97|326;428;428;170	.|ENSP00000349564:P428S;ENSP00000336127:P428S	.|ENSP00000336127:P428S	A|P	-|-	2|1	0|0	TTC7B|TTC7B	90193330|90193330	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.295000|0.295000	0.27426|0.27426	9.507000|9.507000	0.97996|0.97996	2.665000|2.665000	0.90641|0.90641	0.585000|0.585000	0.79938|0.79938	GCC|CCA		0.577	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			A	91123577	G	A	91123577	3	1	604	1	0	0	0	0	1	0	0	0	16718	1203	42	2	1289	2	TTC7B	14	91123577	Missense_Mutation	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	16591956	91123577	16225963	33	33132											
TM6SF1	53346	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	83791521	83791521	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr15:83791521C>G	ENST00000322019.9	+	6	768	c.494C>G	c.(493-495)aCa>aGa	p.T165R	TM6SF1_ENST00000379386.4_Missense_Mutation_p.T168R|TM6SF1_ENST00000565774.1_Missense_Mutation_p.T165R|TM6SF1_ENST00000379390.6_Intron			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	165						integral component of membrane (GO:0016021)		p.T165R(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AAGTATGGAACACGAATTTGC	0.358																																																1	Substitution - Missense(1)	kidney(1)											113	105	108					15																	83791521		2202	4299	6501	SO:0001583	missense	53346			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.494C>G	15.37:g.83791521C>G	ENSP00000317000:p.Thr165Arg		A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774242	0.49786	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384	T;T	0.30182	1.54;1.54	6.17	5.26	0.73747	.	0.093719	0.64402	D	0.000001	T	0.31606	0.0802	L	0.56769	1.78	0.80722	D	1	B;B	0.24721	0.11;0.028	B;B	0.17098	0.017;0.017	T	0.05616	-1.0874	10	0.40728	T	0.16	-15.2283	14.3746	0.66865	0.0:0.9287:0.0:0.0713	.	165;165	E9PD04;Q9BZW5	.;TM6S1_HUMAN	R	165;168;165	ENSP00000317000:T165R;ENSP00000368696:T168R	ENSP00000317000:T165R	T	+	2	0	TM6SF1	81582525	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.203000	0.58453	1.627000	0.50400	0.655000	0.94253	ACA		0.358	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		G	83791521	C	G	83791521	3	3	604	1	0	0	0	0	1	0	0	0	15977	478	17	4	516	4	TM6SF1	15	83791521	Missense_Mutation	SNP	C	TCGA-CZ-5984-01A-11D-1669-08		83791521	18739871	34	33133											
PRKCB	5579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24046821	24046821	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr16:24046821G>A	ENST00000321728.7	+	5	657	c.482G>A	c.(481-483)cGc>cAc	p.R161H	PRKCB_ENST00000303531.7_Missense_Mutation_p.R161H	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	161					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R161H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CGCCGCGGCCGCATCTACATC	0.612																																																2	Substitution - Missense(2)	kidney(2)											85	75	78					16																	24046821		2197	4300	6497	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.482G>A	16.37:g.24046821G>A	ENSP00000318315:p.Arg161His		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448665	0.96205	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.43294	0.95;0.95	5.07	5.07	0.68467	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.81482	-0.0913	10	0.72032	D	0.01	.	17.3714	0.87379	0.0:0.0:1.0:0.0	.	161;161	P05771-2;P05771	.;KPCB_HUMAN	H	161	ENSP00000318315:R161H;ENSP00000305355:R161H	ENSP00000305355:R161H	R	+	2	0	PRKCB	23954322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.332000	0.96446	2.509000	0.84616	0.563000	0.77884	CGC		0.612	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		A	24046821	G	A	24046821	3	1	604	1	0	0	0	0	1	0	0	0	12513	1087	38	1	500	1	PRKCB	16	24046821	Missense_Mutation	SNP	G	TCGA-CZ-5984-01A-11D-1669-08		24046821	66307932	35	33134											
RAB34	83871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27041908	27041908	+	Silent	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr17:27041908G>A	ENST00000395245.3	-	9	1241	c.615C>T	c.(613-615)gtC>gtT	p.V205V	RAB34_ENST00000447716.1_Silent_p.V262V|RAB34_ENST00000436730.3_Silent_p.V205V|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000395243.3_Silent_p.V197V|RAB34_ENST00000395242.2_Silent_p.V206V|RAB34_ENST00000415040.2_Silent_p.V183V|RAB34_ENST00000450529.1_Silent_p.V197V|RAB34_ENST00000301043.6_Silent_p.V205V	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	205					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)	p.V205V(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					AGAATTCTCGGACATTCTCAC	0.582																																					Pancreas(175;216 2049 29940 32498 41589)											1	Substitution - coding silent(1)	kidney(1)											59	52	55					17																	27041908		2203	4300	6503	SO:0001819	synonymous_variant	83871			AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"RAB, member RAS oncogene"	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.615C>T	17.37:g.27041908G>A			B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Silent	SNP	ENST00000395245.3	37	CCDS11240.1																																																																																				0.582	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		A	27041908	G	A	27041908	2	1	604	1	0	0	0	0	0	0	0	1	12930	1161	41	2		2	RAB34	17	27041908	Silent	SNP	G	TCGA-CZ-5984-01A-11D-1669-08		27041908	54153302	36	33135											
CACNA1G	8913	broad.mit.edu;hgsc.bcm.edu	37	17	48703992	48703992	+	Missense_Mutation	SNP	C	C	A	rs367861396		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr17:48703992C>A	ENST00000359106.5	+	38	7014	c.7014C>A	c.(7012-7014)agC>agA	p.S2338R	CACNA1G_ENST00000352832.5_Missense_Mutation_p.S2211R|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2293R|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2282R|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2245R|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S2132R|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2193R|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2327R|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2220R|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2252R|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2204R|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2238R|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S2166R|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2248R|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2267R|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2259R|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2211R|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2275R|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2188R|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2304R|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2234R|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2227R|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2222R|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2200R|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S2155R	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2338					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.S2338R(2)|p.S2304R(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCGTCCAGCGACTCCAAGG	0.637											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				3	Substitution - Missense(3)	kidney(3)											29	35	33					17																	48703992		1940	4120	6060	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.7014C>A	17.37:g.48703992C>A	ENSP00000352011:p.Ser2338Arg	956	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041041	0.55003	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.5	0.604	0.17547	.	0.731037	0.13402	N	0.390529	T	0.39572	0.1083	L	0.38175	1.15	0.41074	D	0.985472	D;D;D;D;P;D;D;D;D;P;P;P;P;P;D;P;D;D;P;D;D;P;D;P;D	0.76494	0.999;0.986;0.999;0.999;0.935;0.998;0.998;0.994;0.998;0.929;0.929;0.933;0.872;0.862;0.998;0.935;0.998;0.996;0.889;0.994;0.999;0.645;0.994;0.64;0.984	D;P;D;D;P;D;D;P;D;B;B;P;P;P;D;P;D;P;P;P;D;B;P;B;D	0.85130	0.993;0.744;0.997;0.995;0.593;0.956;0.995;0.87;0.995;0.415;0.415;0.77;0.544;0.525;0.956;0.593;0.935;0.884;0.593;0.815;0.993;0.369;0.836;0.307;0.953	T	0.24190	-1.0167	10	0.49607	T	0.09	.	7.1503	0.25606	0.0:0.4551:0.1171:0.4278	.	2188;2200;2193;2275;2248;2220;2252;2211;2238;2155;2166;2267;2234;2327;2227;2282;2245;2315;2293;2211;2204;2259;2222;2338;2132	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	R	2222;2211;2304;2204;2267;2234;2200;2188;2193;2211;2293;2327;2248;2238;2259;2245;2220;2282;2252;2132;2338;2227;2275;2166;2155	ENSP00000353990:S2222R;ENSP00000339302:S2211R;ENSP00000347078:S2304R;ENSP00000409759:S2204R;ENSP00000425522:S2267R;ENSP00000426261:S2234R;ENSP00000425451:S2200R;ENSP00000422407:S2188R;ENSP00000426814:S2193R;ENSP00000427238:S2211R;ENSP00000423112:S2293R;ENSP00000420918:S2327R;ENSP00000426172:S2248R;ENSP00000423045:S2238R;ENSP00000427173:S2259R;ENSP00000426098:S2245R;ENSP00000425698:S2220R;ENSP00000426232:S2282R;ENSP00000423317:S2252R;ENSP00000350979:S2132R;ENSP00000352011:S2338R;ENSP00000414388:S2227R;ENSP00000423155:S2275R;ENSP00000422268:S2166R;ENSP00000421518:S2155R	ENSP00000339302:S2211R	S	+	3	2	CACNA1G	46058991	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.120000	0.31271	0.270000	0.21984	0.561000	0.74099	AGC		0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		A	48703992	C	A	48703992	3	1	604	1	0	0	0	0	1	0	0	0	2546	767	27	4	7431	4	CACNA1G	17	48703992	Missense_Mutation	SNP	C	TCGA-CZ-5984-01A-11D-1669-08	21662084	48703992	32491218	37	33136											
ARHGDIA	396	hgsc.bcm.edu;ucsc.edu	37	17	79826812	79826814	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	GTC	GTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr17:79826812_79826814delGTC	ENST00000269321.7	-	6	688_690	c.553_555delGAC	c.(553-555)gacdel	p.D185del	ARHGDIA_ENST00000541078.2_In_Frame_Del_p.D185del|ARHGDIA_ENST00000400721.4_In_Frame_Del_p.D141del|ARHGDIA_ENST00000581876.1_In_Frame_Del_p.D110del|ARHGDIA_ENST00000584461.1_Intron|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000582520.1_5'Flank|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000580685.1_In_Frame_Del_p.D185del	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	185			Missing (in NPHS8; produces mislocalization into the nucleus, hyperactivation of Rho-GTPases RHOA, RAC1 and CDC42 and impaired cell motility). {ECO:0000269|PubMed:23434736}.		cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGTCGGTCTTGTCGTCGTCTGTG	0.64																																																0																																										SO:0001651	inframe_deletion	396			BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.553_555delGAC	17.37:g.79826818_79826820delGTC	ENSP00000269321:p.Asp185del		A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	In_Frame_Del	DEL	ENST00000269321.7	37	CCDS11788.1																																																																																				0.64	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309		-	79826814	GTC	-	79826812	7	5	604	1	0	1	0	1	0	0	0	0	890	1368	48	0	63	0	ARHGDIA	17	79826812	In_Frame_Del	DEL	GTC	TCGA-CZ-5984-01A-11D-1669-08	31122820	79826812	1368398	38	33137											
ST8SIA5	29906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	44268797	44268797	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr18:44268797C>T	ENST00000315087.7	-	4	1057	c.397G>A	c.(397-399)Gag>Aag	p.E133K	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.E102K|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E169K	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	133					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.E133K(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GTGTCCACCTCATACTTGAGC	0.602																																																1	Substitution - Missense(1)	kidney(1)											180	153	162					18																	44268797		2203	4300	6503	SO:0001583	missense	29906			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.397G>A	18.37:g.44268797C>T	ENSP00000321343:p.Glu133Lys		B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558875	0.86231	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.29655	1.56;1.56;1.56	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	M	0.71581	2.175	0.80722	D	1	B;B;P	0.34977	0.136;0.242;0.478	B;B;B	0.35278	0.038;0.105;0.199	T	0.16719	-1.0393	10	0.33940	T	0.23	.	19.5805	0.95465	0.0:1.0:0.0:0.0	.	102;169;133	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	K	133;169;102	ENSP00000321343:E133K;ENSP00000445492:E169K;ENSP00000443683:E102K	ENSP00000321343:E133K	E	-	1	0	ST8SIA5	42522795	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.463000	0.80869	2.629000	0.89072	0.561000	0.74099	GAG		0.602	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		T	44268797	C	T	44268797	3	4	604	1	0	0	0	0	1	0	0	0	15240	835	29	2	749	2	ST8SIA5	18	44268797	Missense_Mutation	SNP	C	TCGA-CZ-5984-01A-11D-1669-08		44268797	33808451	39	33138											
SALL3	27164	broad.mit.edu;ucsc.edu	37	18	76753965	76753965	+	Silent	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr18:76753965G>A	ENST00000537592.2	+	2	1974	c.1974G>A	c.(1972-1974)acG>acA	p.T658T	SALL3_ENST00000575389.2_Silent_p.T658T|SALL3_ENST00000536229.3_Silent_p.T525T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	658					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T658T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGATGCAAACGTCGGAAACCT	0.642																																																1	Substitution - coding silent(1)	kidney(1)											27	28	28					18																	76753965		2201	4298	6499	SO:0001819	synonymous_variant	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1974G>A	18.37:g.76753965G>A			Q9UGH1	Silent	SNP	ENST00000537592.2	37	CCDS12013.1																																																																																				0.642	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		A	76753965	G	A	76753965	2	1	604	1	0	0	0	0	0	0	0	1	13818	1132	40	1		1	SALL3	18	76753965	Silent	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	32485168	76753965	1323283	40	33139											
COL5A3	50509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10090547	10090547	+	Nonsense_Mutation	SNP	G	G	A	rs560807981		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr19:10090547G>A	ENST00000264828.3	-	37	2765	c.2680C>T	c.(2680-2682)Cga>Tga	p.R894*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	894	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.R894*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGCCCTGGTCGCCCATCTTTA	0.522																																																1	Substitution - Nonsense(1)	kidney(1)											90	88	89					19																	10090547		2203	4300	6503	SO:0001587	stop_gained	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2680C>T	19.37:g.10090547G>A	ENSP00000264828:p.Arg894*		Q9NZQ6	Nonsense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	40	8.150837	0.98678	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.36	-8.3	0.01005	.	0.789981	0.10288	U	0.692760	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	8.0619	0.30638	0.0:0.194:0.36:0.4459	.	.	.	.	X	894	.	ENSP00000264828:R894X	R	-	1	2	COL5A3	9951547	0.000000	0.05858	0.001000	0.08648	0.851000	0.48451	-0.828000	0.04419	-0.962000	0.03604	0.467000	0.42956	CGA		0.522	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		A	10090547	G	A	10090547	4	1	604	1	0	0	0	0	0	1	0	0	3700	1095	38	1	2681	1	COL5A3	19	10090547	Nonsense_Mutation	SNP	G	TCGA-CZ-5984-01A-11D-1669-08		10090547	49038436	41	33140											
ZNF335	63925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44586316	44586316	+	Missense_Mutation	SNP	G	G	T	rs372293555		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr20:44586316G>T	ENST00000322927.2	-	17	2451	c.2351C>A	c.(2350-2352)gCt>gAt	p.A784D	ZNF335_ENST00000426788.1_Missense_Mutation_p.A629D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	784					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.A784D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CGACTCCTCAGCTCCTGGGTG	0.622																																																1	Substitution - Missense(1)	kidney(1)											53	49	50					20																	44586316		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2351C>A	20.37:g.44586316G>T	ENSP00000325326:p.Ala784Asp		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749948	0.30955	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09350	3.11;2.99	5.02	5.02	0.67125	.	0.517121	0.19701	N	0.108027	T	0.08223	0.0205	N	0.19112	0.55	0.32617	N	0.523848	B;B	0.31859	0.343;0.079	B;B	0.38954	0.286;0.096	T	0.19257	-1.0311	10	0.15952	T	0.53	-6.1699	8.5936	0.33701	0.105:0.0:0.895:0.0	.	629;784	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	D	784;561;629	ENSP00000325326:A784D;ENSP00000397098:A629D	ENSP00000243961:A561D	A	-	2	0	ZNF335	44019723	1.000000	0.71417	0.999000	0.59377	0.161000	0.22273	2.851000	0.48302	2.620000	0.88729	0.563000	0.77884	GCT		0.622	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		T	44586316	G	T	44586316	3	4	604	1	0	0	0	0	1	0	0	0	17857	971	34	4	1725	4	ZNF335	20	44586316	Missense_Mutation	SNP	G	TCGA-CZ-5984-01A-11D-1669-08		44586316	18439204	42	33141											
C21orf70	85395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	46363676	46363676	+	Silent	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr21:46363676G>A	ENST00000291634.6	+	2	255	c.207G>A	c.(205-207)ctG>ctA	p.L69L	FAM207A_ENST00000397826.3_Silent_p.L69L	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	69								p.L69L(1)									AGCTGGAGCTGGACGTGAGGA	0.582																																																1	Substitution - coding silent(1)	kidney(1)											107	86	93					21																	46363676		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 70"	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.207G>A	21.37:g.46363676G>A				Silent	SNP	ENST00000291634.6	37	CCDS13718.1																																																																																				0.582	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		A	46363676	G	A	46363676	2	1	604	1	0	0	0	0	0	0	0	1	2135	1335	47	2		2	C21orf70	21	46363676	Silent	SNP	G	TCGA-CZ-5984-01A-11D-1669-08		46363676	1766219	43	33142											
SLC19A1	6573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	46951439	46951439	+	Silent	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr21:46951439G>A	ENST00000311124.4	-	3	965	c.813C>T	c.(811-813)tcC>tcT	p.S271S	SLC19A1_ENST00000485649.2_Silent_p.S231S|SLC19A1_ENST00000567670.1_Silent_p.S271S|SLC19A1_ENST00000380010.4_Silent_p.S271S	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	271					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)	p.S271S(1)|p.S18S(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CCCACCAGAGGGACCACAGGC	0.682																																																2	Substitution - coding silent(2)	kidney(2)											44	56	52					21																	46951439		2202	4300	6502	SO:0001819	synonymous_variant	6573			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.813C>T	21.37:g.46951439G>A			B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	G	6.529	0.465872	0.12402	.	.	ENSG00000173638	ENST00000417954	.	.	.	4.05	3.16	0.36331	.	.	.	.	.	T	0.56337	0.1978	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50849	-0.8779	4	.	.	.	-27.0301	7.6638	0.28419	0.2013:0.0:0.7987:0.0	.	.	.	.	L	6	.	.	P	-	2	0	SLC19A1	45775867	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	0.807000	0.27140	0.854000	0.35336	0.306000	0.20318	CCC		0.682	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			A	46951439	G	A	46951439	2	1	604	1	0	0	0	0	0	0	0	1	14434	1219	43	2		2	SLC19A1	21	46951439	Silent	SNP	G	TCGA-CZ-5984-01A-11D-1669-08	587763	46951439	1178456	44	33143											
KDELR3	11015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38877247	38877247	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr22:38877247T>C	ENST00000216014.4	+	4	554	c.382T>C	c.(382-384)Tca>Cca	p.S128P	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.S128P	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	128					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)	p.S128P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CTATCTGGAATCAGTGGCTAT	0.473																																					Ovarian(11;103 529 24120 28493 32980)											2	Substitution - Missense(2)	kidney(2)											157	163	161					22																	38877247		2203	4300	6503	SO:0001583	missense	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.382T>C	22.37:g.38877247T>C	ENSP00000216014:p.Ser128Pro		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.104634	0.37145	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.58210	0.37;0.35	4.97	4.97	0.65823	.	0.141777	0.49916	D	0.000135	T	0.75642	0.3877	M	0.90082	3.085	0.80722	D	1	B;D	0.56035	0.222;0.974	B;D	0.64042	0.183;0.921	T	0.81647	-0.0838	10	0.72032	D	0.01	.	14.8235	0.70091	0.0:0.0:0.0:1.0	.	128;128	O43731;O43731-2	ERD23_HUMAN;.	P	128	ENSP00000216014:S128P;ENSP00000386918:S128P	ENSP00000216014:S128P	S	+	1	0	KDELR3	37207193	1.000000	0.71417	0.454000	0.27019	0.287000	0.27160	2.946000	0.49050	2.098000	0.63641	0.528000	0.53228	TCA		0.473	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			C	38877247	T	C	38877247	3	2	604	1	0	0	0	0	1	0	0	0	8123	1435	50	3	396	3	KDELR3	22	38877247	Missense_Mutation	SNP	T	TCGA-CZ-5984-01A-11D-1669-08		38877247	12427319	45	33144											
TOB2	10766	hgsc.bcm.edu;ucsc.edu	37	22	41832766	41832766	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr22:41832766delC	ENST00000327492.3	-	2	1290	c.584delG	c.(583-585)ggcfs	p.G196fs		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	196					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G195fs*9(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TGCTGCCCCGCCCCCCTTCTT	0.657																																																1	Deletion - Frameshift(1)	large_intestine(1)											21	22	21					22																	41832766		2201	4294	6495	SO:0001589	frameshift_variant	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.584delG	22.37:g.41832766delC	ENSP00000331305:p.Gly196fs		Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Frame_Shift_Del	DEL	ENST00000327492.3	37	CCDS14015.1																																																																																				0.657	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		-	41832766	C	-	41832766	7	5	604	1	0	1	0	1	0	0	0	0	16353	739	26	0	454	0	TOB2	22	41832766	Frame_Shift_Del	DEL	C	TCGA-CZ-5984-01A-11D-1669-08	2955519	41832766	9471800	46	33145											
UBE2A	7319	hgsc.bcm.edu	37	X	118715555	118715560	+	Splice_Site	DEL	AAATGG	AAATGG	-			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	AAATGG	AAATGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chrX:118715555_118715560delAAATGG	ENST00000371558.2	+	4	411_415	c.237_241delAAATGG	c.(235-243)ccaaatggt>ccgt	p.NG80del	UBE2A_ENST00000371569.5_Splice_Site_p.NG5del|UBE2A_ENST00000346330.3_Intron	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	80					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						TGTTCCATCCAAATGGCAAGTATCAC	0.325								Rad6 pathway																																								0																																										SO:0001630	splice_region_variant	7319			AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"Ubiquitin-conjugating enzymes E2"	12472	protein-coding gene	gene with protein product		312180	"ubiquitin-conjugating enzyme E2A (RAD6 homolog)"			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.241+1AAATGG>-	X.37:g.118715555_118715560delAAATGG			A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	In_Frame_Del	DEL	ENST00000371558.2	37	CCDS14580.1																																																																																				0.325	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336	In_Frame_Del	-	118715560	AAATGG	-	118715555	8	5	604	1	0	1	0	1	0	0	1	0	16849	117	5	0	251	0	UBE2A	23	118715555	Splice_Site	DEL	AAATGG	TCGA-CZ-5984-01A-11D-1669-08		118715555	36555005	47	33146											
PADI6	353238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17727910	17727910	+	RNA	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:17727910C>T	ENST00000434762.2	+	0	2112							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.F686F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCTTTGCCTTCAAATGGTGGA	0.557																																																1	Substitution - coding silent(1)	kidney(1)											39	41	40					1																	17727910		2060	4187	6247			353238			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17727910C>T			Q330K5|Q70SX3	Nonsense_Mutation	SNP	ENST00000434762.2	37																																																																																					0.557	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		T	17727910	C	T	17727910	1	4	605	0	1	0	0	0	0	0	0	0	11383	825	29	2		2	PADI6	1	17727910	RNA	SNP	C	TCGA-CZ-5985-01A-11D-1669-08		17727910	231522711	1	33147											
EPHA8	2046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22895795	22895796	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:22895795_22895796CA>AC	ENST00000166244.3	+	2	180_181	c.108_109CA>AC	c.(106-111)gaCAcg>gaACcg	p.36_37DT>EP	EPHA8_ENST00000538803.1_Missense_Mutation_p.36_37DT>EP|EPHA8_ENST00000374644.4_Missense_Mutation_p.36_37DT>EP	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	36	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.T37P(2)|p.D36>?(2)|p.D36E(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATTTGCTGGACACGTCGACCAT	0.589																																																6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	Exception_encountered	1.37:g.22895795_22895796delinsAC	ENSP00000166244:p.D36_T37delinsEP		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.589	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		AC	22895796	CA	AC	22895795	3	1	605	1	0	0	0	0	1	0	0	0	5175	477	17	4	114	4	EPHA8	1	22895795	Missense_Mutation	DNP	CA	TCGA-CZ-5985-01A-11D-1669-08	5167885	22895795	226354826	2	33148											
ST3GAL3	6487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44365370	44365370	+	Silent	SNP	T	T	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:44365370T>C	ENST00000361392.4	+	9	892	c.715T>C	c.(715-717)Ttg>Ctg	p.L239L	ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361746.4_Silent_p.L308L|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531993.1_Silent_p.L223L|ST3GAL3_ENST00000372369.1_Silent_p.L239L|ST3GAL3_ENST00000332628.6_Silent_p.L208L|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372374.2_Silent_p.L208L|ST3GAL3_ENST00000361400.4_Silent_p.L223L|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Silent_p.L239L|ST3GAL3_ENST00000372375.2_Silent_p.L293L|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000347631.2_Silent_p.L254L|ST3GAL3_ENST00000262915.3_Silent_p.L308L|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372368.2_Silent_p.L293L|ST3GAL3_ENST00000353126.3_Silent_p.L239L|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372372.2_Silent_p.L277L|ST3GAL3_ENST00000351035.3_Silent_p.L277L	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	239					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.L308L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CTTTAAGTGGTTGAAATACAT	0.587																																																1	Substitution - coding silent(1)	kidney(1)											69	69	69					1																	44365370		2203	4300	6503	SO:0001819	synonymous_variant	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.715T>C	1.37:g.44365370T>C			A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Silent	SNP	ENST00000361392.4	37	CCDS492.1																																																																																				0.587	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		C	44365370	T	C	44365370	2	2	605	1	0	0	0	0	0	0	0	1	15221	1722	60	3		3	ST3GAL3	1	44365370	Silent	SNP	T	TCGA-CZ-5985-01A-11D-1669-08	21469575	44365370	204885251	3	33149											
PODN	127435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53535790	53535790	+	Missense_Mutation	SNP	G	G	T	rs201199782		TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:53535790G>T	ENST00000312553.5	+	2	414	c.407G>T	c.(406-408)cGt>cTt	p.R136L	PODN_ENST00000395871.2_Missense_Mutation_p.R136L|PODN_ENST00000371500.3_Missense_Mutation_p.R117L|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	88					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.R136L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTGACCTGCGTGAGTTCCCG	0.677																																																1	Substitution - Missense(1)	kidney(1)											80	64	69					1																	53535790		2203	4300	6503	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.407G>T	1.37:g.53535790G>T	ENSP00000308315:p.Arg136Leu		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082602	0.55861	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.24151	3.65;1.87;2.25	4.82	4.82	0.62117	.	1.277270	0.05151	N	0.496066	T	0.31575	0.0801	L	0.38838	1.175	0.37345	D	0.910573	P;P;P	0.42871	0.622;0.792;0.668	P;B;B	0.44673	0.457;0.361;0.343	T	0.07731	-1.0757	10	0.51188	T	0.08	.	13.2558	0.60079	0.0:0.0:1.0:0.0	.	136;117;136	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	L	117;136;136	ENSP00000360555:R117L;ENSP00000379212:R136L;ENSP00000308315:R136L	ENSP00000308315:R136L	R	+	2	0	PODN	53308378	0.986000	0.35501	0.969000	0.41365	0.992000	0.81027	2.728000	0.47319	2.509000	0.84616	0.561000	0.74099	CGT		0.677	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		T	53535790	G	T	53535790	3	4	605	1	0	0	0	0	1	0	0	0	12180	1145	40	4	413	4	PODN	1	53535790	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	9170420	53535790	195714831	4	33150											
GPR61	83873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110086219	110086219	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:110086219C>T	ENST00000527748.1	+	2	1258	c.575C>T	c.(574-576)cCc>cTc	p.P192L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.P192L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCAGTGTCCCCCCAGGCTGT	0.582																																																1	Substitution - Missense(1)	kidney(1)											166	155	159					1																	110086219		2203	4300	6503	SO:0001583	missense	83873			AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"GPCR / Class A : Orphans"	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.575C>T	1.37:g.110086219C>T	ENSP00000432456:p.Pro192Leu		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538659	0.27475	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.37752	1.18	5.15	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.462713	0.23007	N	0.053002	T	0.10294	0.0252	N	0.21373	0.66	0.36893	D	0.889985	B	0.28470	0.213	B	0.24848	0.056	T	0.05354	-1.0890	10	0.56958	D	0.05	-17.5306	6.3	0.21107	0.1386:0.6591:0.1269:0.0755	.	192	Q9BZJ8	GPR61_HUMAN	L	192;320	ENSP00000432456:P192L	ENSP00000286603:P320L	P	+	2	0	GPR61	109887742	0.006000	0.16342	0.995000	0.50966	0.982000	0.71751	1.741000	0.38238	1.327000	0.45338	0.655000	0.94253	CCC		0.582	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			T	110086219	C	T	110086219	3	4	605	1	0	0	0	0	1	0	0	0	6704	623	22	2	577	2	GPR61	1	110086219	Missense_Mutation	SNP	C	TCGA-CZ-5985-01A-11D-1669-08	56550429	110086219	139164402	5	33151											
KCNC4	3749	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110768698	110768698	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:110768698G>A	ENST00000369787.3	+	3	1744	c.1717G>A	c.(1717-1719)Gcc>Acc	p.A573T	KCNC4_ENST00000438661.2_Missense_Mutation_p.A573T|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.A573T	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	573					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A573T(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGAGCGCCGGGCCCTGCGACG	0.642																																																2	Substitution - Missense(2)	kidney(2)											54	60	58					1																	110768698		2203	4300	6503	SO:0001583	missense	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1717G>A	1.37:g.110768698G>A	ENSP00000358802:p.Ala573Thr		Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571077	0.45798	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97232	-4.3;-4.3;-4.29	5.19	3.16	0.36331	.	0.395946	0.29152	N	0.012999	D	0.83454	0.5258	N	0.14661	0.345	0.30378	N	0.782267	B;B	0.11235	0.004;0.002	B;B	0.12156	0.003;0.007	T	0.74281	-0.3716	10	0.33940	T	0.23	.	2.3029	0.04167	0.174:0.1951:0.4976:0.1334	.	573;573	Q03721;Q03721-3	KCNC4_HUMAN;.	T	573	ENSP00000358802:A573T;ENSP00000388029:A573T;ENSP00000393655:A573T	ENSP00000358802:A573T	A	+	1	0	KCNC4	110570221	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.254000	0.32897	1.168000	0.42723	0.462000	0.41574	GCC		0.642	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		A	110768698	G	A	110768698	3	1	605	1	0	0	0	0	1	0	0	0	8019	1203	42	2	1861	2	KCNC4	1	110768698	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	682479	110768698	138481923	6	33152											
MTMR11	10903	broad.mit.edu;hgsc.bcm.edu	37	1	149901022	149901022	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:149901022T>A	ENST00000439741.2	-	17	2379	c.2129A>T	c.(2128-2130)tAg>tTg	p.*710L	MTMR11_ENST00000369140.3_Intron|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000406732.3_3'UTR|SF3B4_ENST00000271628.8_5'Flank	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	0							phosphatase activity (GO:0016791)	p.*710L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AACCCTCCTCTACCCCAGATC	0.448																																																1	Nonstop extension(1)	kidney(1)											93	93	93					1																	149901022		2203	4300	6503	SO:0001578	stop_lost	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.2129A>T	1.37:g.149901022T>A			B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	T	3.250	-0.153379	0.06585	.	.	ENSG00000014914	ENST00000439741	.	.	.	3.82	-0.655	0.11439	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.4676	0.07555	0.0:0.4293:0.1993:0.3715	.	.	.	.	L	710	.	.	X	-	2	0	MTMR11	148167646	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.040000	0.13905	0.060000	0.16281	-0.468000	0.05107	TAG		0.448	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		A	149901022	T	A	149901022	4	1	605	1	0	0	0	0	0	0	0	0	9942	1535	53	5	43	5	MTMR11	1	149901022	Nonstop_Mutation	SNP	T	TCGA-CZ-5985-01A-11D-1669-08	39132324	149901022	99349599	7	33153											
ARHGEF11	9826	hgsc.bcm.edu;ucsc.edu	37	1	156914213	156914214	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:156914213_156914214delTA	ENST00000361409.2	-	30	3625_3626	c.2883_2884delTA	c.(2881-2886)cttacafs	p.T963fs	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Frame_Shift_Del_p.T379fs|ARHGEF11_ENST00000368194.3_Frame_Shift_Del_p.T1003fs	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	963					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTCTGGTTGTAAGATCCAGGC	0.465																																																0																																										SO:0001589	frameshift_variant	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2883_2884delTA	1.37:g.156914213_156914214delTA	ENSP00000354644:p.Thr963fs		D3DVD0|Q5VY40|Q6PFW2	Frame_Shift_Del	DEL	ENST00000361409.2	37	CCDS1162.1																																																																																				0.465	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		-	156914214	TA	-	156914213	7	5	605	1	0	1	0	1	0	0	0	0	896	1638	57	0	1728	0	ARHGEF11	1	156914213	Frame_Shift_Del	DEL	TA	TCGA-CZ-5985-01A-11D-1669-08	7013191	156914213	92336408	8	33154											
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186099138	186099138	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:186099138T>G	ENST00000271588.4	+	84	13174	c.12945T>G	c.(12943-12945)atT>atG	p.I4315M	HMCN1_ENST00000367492.2_Missense_Mutation_p.I4315M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4315	Ig-like C2-type 42.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.I4315M(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACTTGTTATTGAAAGAGTGT	0.428																																																1	Substitution - Missense(1)	kidney(1)											158	140	146					1																	186099138		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12945T>G	1.37:g.186099138T>G	ENSP00000271588:p.Ile4315Met		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469738	0.63625	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79033	-1.23;-1.23	5.82	4.7	0.59300	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098992	0.64402	D	0.000002	D	0.85986	0.5825	M	0.89904	3.07	0.53005	D	0.999966	D	0.55800	0.973	P	0.56163	0.793	D	0.87530	0.2452	10	0.59425	D	0.04	.	8.937	0.35706	0.0:0.1405:0.0:0.8595	.	4315	Q96RW7	HMCN1_HUMAN	M	4315	ENSP00000271588:I4315M;ENSP00000356462:I4315M	ENSP00000271588:I4315M	I	+	3	3	HMCN1	184365761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.857000	0.27831	2.221000	0.72209	0.528000	0.53228	ATT		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		G	186099138	T	G	186099138	3	3	605	1	0	0	0	0	1	0	0	0	7222	1800	63	5	13279	5	HMCN1	1	186099138	Missense_Mutation	SNP	T	TCGA-CZ-5985-01A-11D-1669-08	29184925	186099138	63151483	9	33155											
KIF26B	55083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	245583033	245583033	+	Silent	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:245583033C>T	ENST00000407071.2	+	4	1592	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	384					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A384A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGGTGGCCGCCTCCTTCTTTG	0.587																																																2	Substitution - coding silent(2)	kidney(2)											96	98	97					1																	245583033		1995	4162	6157	SO:0001819	synonymous_variant	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1152C>T	1.37:g.245583033C>T			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	CCDS44342.1																																																																																				0.587	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		T	245583033	C	T	245583033	2	4	605	1	0	0	0	0	0	0	0	1	8297	668	24	2		2	KIF26B	1	245583033	Silent	SNP	C	TCGA-CZ-5985-01A-11D-1669-08	59483895	245583033	3667588	10	33156											
AHCTF1	25909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247081660	247081660	+	Silent	SNP	T	T	G			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:247081660T>G	ENST00000391829.2	-	2	136	c.13A>C	c.(13-15)Aga>Cga	p.R5R	AHCTF1_ENST00000326225.3_Silent_p.R14R|AHCTF1_ENST00000366508.1_Silent_p.R40R			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	5	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R5R(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACTTGAGCTCTTAAGTCTCGC	0.373																																					Colon(145;197 1800 4745 15099 26333)											1	Substitution - coding silent(1)	kidney(1)											60	56	58					1																	247081660		2203	4300	6503	SO:0001819	synonymous_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.13A>C	1.37:g.247081660T>G			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37																																																																																					0.373	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		G	247081660	T	G	247081660	2	3	605	1	0	0	0	0	0	0	0	1	408	1617	56	5		5	AHCTF1	1	247081660	Silent	SNP	T	TCGA-CZ-5985-01A-11D-1669-08	1498627	247081660	2168961	11	33157											
MEMO1	51072	broad.mit.edu	37	2	32093458	32093458	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr2:32093458T>A	ENST00000295065.5	-	9	1175	c.866A>T	c.(865-867)tAt>tTt	p.Y289F	MEMO1_ENST00000426310.2_Missense_Mutation_p.Y266F|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.Y292F|MEMO1_ENST00000404530.1_Missense_Mutation_p.Y289F	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	289					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.Y289F(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TCCAGCTGCATAACTCACTGA	0.488																																																1	Substitution - Missense(1)	kidney(1)											24	21	22					2																	32093458		2202	4280	6482	SO:0001583	missense	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"chromosome 2 open reading frame 4"	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.866A>T	2.37:g.32093458T>A	ENSP00000295065:p.Tyr289Phe		B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879975	0.72294	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90877	0.4750	9	0.87932	D	0	-9.5931	15.0912	0.72195	0.0:0.0:0.0:1.0	.	266;289	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	F	289;292;289;266	.	ENSP00000295065:Y289F	Y	-	2	0	MEMO1	31946962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.109000	0.64355	0.528000	0.53228	TAT		0.488	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		A	32093458	T	A	32093458	3	1	605	1	0	0	0	0	1	0	0	0	9473	1406	49	5	31	5	MEMO1	2	32093458	Missense_Mutation	SNP	T	TCGA-CZ-5985-01A-11D-1669-08		32093458	211105915	12	33158											
POLR1B	84172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	113308515	113308515	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr2:113308515C>A	ENST00000263331.5	+	5	1278	c.698C>A	c.(697-699)aCt>aAt	p.T233N	POLR1B_ENST00000537335.1_Missense_Mutation_p.T22N|POLR1B_ENST00000417433.2_Missense_Mutation_p.T177N|POLR1B_ENST00000409894.3_Missense_Mutation_p.T233N|POLR1B_ENST00000541869.1_Missense_Mutation_p.T271N	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	233					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.T233N(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GAAAATGGCACTGTTATGTTG	0.358																																					Ovarian(16;256 576 9537 23969 41147)											1	Substitution - Missense(1)	kidney(1)											229	215	219					2																	113308515		2203	4300	6503	SO:0001583	missense	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.698C>A	2.37:g.113308515C>A	ENSP00000263331:p.Thr233Asn		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391314	0.25118	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.02	5.02	0.67125	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.210083	0.49916	D	0.000133	T	0.58764	0.2145	N	0.16233	0.39	0.80722	D	1	B;D;B;B	0.62365	0.02;0.991;0.0;0.025	B;P;B;B	0.56434	0.023;0.798;0.002;0.024	T	0.53315	-0.8456	10	0.13108	T	0.6	-18.4644	17.4839	0.87682	0.0:1.0:0.0:0.0	.	271;233;177;233	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	N	233;271;233;22;177	ENSP00000263331:T233N;ENSP00000444136:T271N;ENSP00000387143:T233N;ENSP00000437914:T22N;ENSP00000405358:T177N	ENSP00000263331:T233N	T	+	2	0	POLR1B	113024986	1.000000	0.71417	0.959000	0.39883	0.933000	0.57130	4.980000	0.63812	2.493000	0.84123	0.650000	0.86243	ACT		0.358	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		A	113308515	C	A	113308515	3	1	605	1	0	0	0	0	1	0	0	0	12212	565	20	4	716	4	POLR1B	2	113308515	Missense_Mutation	SNP	C	TCGA-CZ-5985-01A-11D-1669-08	81215057	113308515	129890858	13	33159											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10183858	10183859	+	Frame_Shift_Ins	INS	-	-	CA	rs17855706		TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:10183858_10183859insCA	ENST00000256474.2	+	1	1167_1168	c.327_328insCA	c.(328-330)cacfs	p.H110fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.H110fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	110	Involved in binding to CCT complex.		H -> Y (in dbSNP:rs17855706). {ECO:0000269|PubMed:15489334}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)|p.H110fs*49(2)|p.H110>RIN(1)|p.I109_R113del(1)|p.G106fs*49(1)|p.H110_S111del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCCGCCGCATCCACAGCTACCG	0.688		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	8	Deletion - Frameshift(3)|Deletion - In frame(2)|Unknown(2)|Complex - insertion inframe(1)	kidney(8)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.330_331dupCA	3.37:g.10183861_10183862dupCA	ENSP00000256474:p.His110fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.688	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		CA	10183859	-	CA	10183858	7	5	605	1	0	1	1	0	0	0	0	0	17167	845	30	0	329	0	VHL	3	10183858	Frame_Shift_Ins	INS	-	TCGA-CZ-5985-01A-11D-1669-08		10183858	187838572	14	33160											
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52439311	52439311	+	Splice_Site	SNP	C	C	A	rs9848343		TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:52439311C>A	ENST00000460680.1	-	11	1403		c.e11-1		BAP1_ENST00000296288.5_Splice_Site	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCTGCACCATCTGAGACAGGG	0.582			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Unknown(1)	kidney(1)											81	84	83					3																	52439311		2203	4300	6503	SO:0001630	splice_region_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.932-1G>T	3.37:g.52439311C>A			B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196907	0.79015	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0263	0.89270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52414351	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.914000	0.69964	2.707000	0.92482	0.655000	0.94253	.		0.582	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		Intron	A	52439311	C	A	52439311	5	1	605	1	0	0	0	0	0	0	1	0	1311	927	32	4	1286	4	BAP1	3	52439311	Splice_Site	SNP	C	TCGA-CZ-5985-01A-11D-1669-08	42255453	52439311	145583119	15	33161											
TMF1	7110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	69073260	69073260	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:69073260A>C	ENST00000398559.2	-	16	3300	c.3084T>G	c.(3082-3084)aaT>aaG	p.N1028K	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'Flank|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.N1031K|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1028					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.N1028K(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CAAGTTCATCATTTTGATTTG	0.323																																																1	Substitution - Missense(1)	kidney(1)											173	159	163					3																	69073260		1831	4081	5912	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3084T>G	3.37:g.69073260A>C	ENSP00000381567:p.Asn1028Lys		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388276	0.61956	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	D;D	0.83837	-1.77;-1.77	5.59	3.24	0.37175	.	0.050123	0.85682	D	0.000000	D	0.87124	0.6099	L	0.61036	1.89	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.74674	0.983;0.984	T	0.82912	-0.0222	10	0.26408	T	0.33	-19.3115	9.787	0.40681	0.8607:0.0:0.1393:0.0	.	1031;1028	P82094-2;P82094	.;TMF1_HUMAN	K	1028;1031;944	ENSP00000381567:N1028K;ENSP00000438706:N1031K	ENSP00000348582:N944K	N	-	3	2	TMF1	69155950	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.261000	0.32980	0.415000	0.25817	0.455000	0.32223	AAT		0.323	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		C	69073260	A	C	69073260	3	2	605	1	0	0	0	0	1	0	0	0	16233	214	8	5	205	5	TMF1	3	69073260	Missense_Mutation	SNP	A	TCGA-CZ-5985-01A-11D-1669-08	16633949	69073260	128949170	16	33162											
MYLK	4638	hgsc.bcm.edu	37	3	123411691	123411691	+	Silent	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:123411691G>A	ENST00000475616.1	-	16	3455	c.3456C>T	c.(3454-3456)ctC>ctT	p.L1152L	MYLK_ENST00000354792.5_5'Flank|MYLK-AS2_ENST00000510827.1_RNA|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000359169.1_Silent_p.L1152L|MYLK_ENST00000360304.3_Silent_p.L1152L|MYLK_ENST00000346322.5_Silent_p.L1083L|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360772.3_Silent_p.L1152L			Q15746	MYLK_HUMAN	myosin light chain kinase	1152	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGACGGAGCAGAGTGAGCCTG	0.582																																																0													77	66	70					3																	123411691		2203	4300	6503	SO:0001819	synonymous_variant	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3456C>T	3.37:g.123411691G>A			B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																				0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		A	123411691	G	A	123411691	2	1	605	1	0	0	0	0	0	0	0	1	10058	929	33	2		2	MYLK	3	123411691	Silent	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	54338431	123411691	74610739	17	33163	247	2									
MYLK	4638	hgsc.bcm.edu;ucsc.edu	37	3	123411694	123411694	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:123411694delT	ENST00000475616.1	-	16	3452	c.3453delA	c.(3451-3453)tcafs	p.S1151fs	MYLK_ENST00000354792.5_5'Flank|MYLK-AS2_ENST00000510827.1_RNA|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000359169.1_Frame_Shift_Del_p.S1151fs|MYLK_ENST00000360304.3_Frame_Shift_Del_p.S1151fs|MYLK_ENST00000346322.5_Frame_Shift_Del_p.S1082fs|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360772.3_Frame_Shift_Del_p.S1151fs			Q15746	MYLK_HUMAN	myosin light chain kinase	1151	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGGAGCAGAGTGAGCCTGGGG	0.592																																																0													76	65	69					3																	123411694		2203	4300	6503	SO:0001589	frameshift_variant	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3453delA	3.37:g.123411694delT	ENSP00000418335:p.Ser1151fs		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Frame_Shift_Del	DEL	ENST00000475616.1	37	CCDS46896.1																																																																																				0.592	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		-	123411694	T	-	123411694	7	5	605	1	0	1	0	1	0	0	0	0	10058	1683	59	0	2355	0	MYLK	3	123411694	Frame_Shift_Del	DEL	T	TCGA-CZ-5985-01A-11D-1669-08	3	123411694	74610736	18	33164	247	2									
ATP8A1	10396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	42581897	42581897	+	Silent	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr4:42581897G>T	ENST00000381668.5	-	11	1164	c.933C>A	c.(931-933)gtC>gtA	p.V311V	ATP8A1_ENST00000264449.10_Silent_p.V311V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	311					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V311V(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCACAGAACAGACAAGAGACA	0.363																																																2	Substitution - coding silent(2)	kidney(2)											76	76	76					4																	42581897		2203	4300	6503	SO:0001819	synonymous_variant	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.933C>A	4.37:g.42581897G>T			Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	CCDS3466.1																																																																																				0.363	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		T	42581897	G	T	42581897	2	4	605	1	0	0	0	0	0	0	0	1	1192	929	33	4		4	ATP8A1	4	42581897	Silent	SNP	G	TCGA-CZ-5985-01A-11D-1669-08		42581897	148572379	19	33165											
EMCN	51705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	101331487	101331487	+	Silent	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr4:101331487G>T	ENST00000296420.4	-	11	955	c.777C>A	c.(775-777)acC>acA	p.T259T	EMCN_ENST00000511970.1_Silent_p.T246T|EMCN_ENST00000305864.3_Silent_p.T176T	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	259						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T259T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GTCAGTTCTTGGTTTTTCCTT	0.373																																																1	Substitution - coding silent(1)	kidney(1)											212	201	205					4																	101331487		2203	4300	6503	SO:0001819	synonymous_variant	51705			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.777C>A	4.37:g.101331487G>T			A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Silent	SNP	ENST00000296420.4	37	CCDS3655.1																																																																																				0.373	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		T	101331487	G	T	101331487	2	4	605	1	0	0	0	0	0	0	0	1	5088	1335	47	4		4	EMCN	4	101331487	Silent	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	58749590	101331487	89822789	20	33166											
BDH2	56898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	104016427	104016427	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr4:104016427T>A	ENST00000296424.4	-	3	204	c.84A>T	c.(82-84)agA>agT	p.R28S		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	28					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.R28S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TGGCACCTTCTCTTGCAAAAG	0.393																																																1	Substitution - Missense(1)	kidney(1)											113	107	109					4																	104016427		2203	4300	6503	SO:0001583	missense	56898			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	32389	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 15C, member 1"		"dehydrogenase/reductase (SDR family) member 6"	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.84A>T	4.37:g.104016427T>A	ENSP00000296424:p.Arg28Ser		A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	ENST00000296424.4	37	CCDS3663.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113167	0.56398	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	T;T;D	0.87491	0.99;0.66;-2.26	5.0	3.79	0.43588	NAD(P)-binding domain (1);	0.304588	0.39341	N	0.001394	T	0.76378	0.3979	N	0.21142	0.635	0.46981	D	0.999273	B	0.06786	0.001	B	0.06405	0.002	T	0.66976	-0.5787	10	0.29301	T	0.29	.	8.7239	0.34458	0.3035:0.0:0.0:0.6965	.	28	Q9BUT1	BDH2_HUMAN	S	28	ENSP00000296424:R28S;ENSP00000427442:R28S;ENSP00000422891:R28S	ENSP00000296424:R28S	R	-	3	2	BDH2	104235876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.830000	0.48136	0.830000	0.34757	0.460000	0.39030	AGA		0.393	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139		A	104016427	T	A	104016427	3	1	605	1	0	0	0	0	1	0	0	0	1391	1548	54	5	685	5	BDH2	4	104016427	Missense_Mutation	SNP	T	TCGA-CZ-5985-01A-11D-1669-08	2684940	104016427	87137849	21	33167											
TLL1	7092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	166929189	166929189	+	Silent	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr4:166929189C>T	ENST00000061240.2	+	7	1553	c.906C>T	c.(904-906)aaC>aaT	p.N302N	TLL1_ENST00000513213.1_Silent_p.N302N|TLL1_ENST00000507499.1_Silent_p.N302N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	302	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N302N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGCCAGGAACACCTTCTCAA	0.408																																																1	Substitution - coding silent(1)	kidney(1)											118	108	111					4																	166929189		2203	4300	6503	SO:0001819	synonymous_variant	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.906C>T	4.37:g.166929189C>T			B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	CCDS3811.1																																																																																				0.408	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			T	166929189	C	T	166929189	2	4	605	1	0	0	0	0	0	0	0	1	15950	477	17	2		2	TLL1	4	166929189	Silent	SNP	C	TCGA-CZ-5985-01A-11D-1669-08	62912762	166929189	24225087	22	33168											
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu	37	5	37044460	37044460	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr5:37044460T>A	ENST00000282516.8	+	35	6619	c.6120T>A	c.(6118-6120)gaT>gaA	p.D2040E	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2040E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2040					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.D2040E(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CGCAAAATGATTTCATGGTTA	0.353																																																2	Substitution - Missense(2)	kidney(2)											58	57	57					5																	37044460		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6120T>A	5.37:g.37044460T>A	ENSP00000282516:p.Asp2040Glu		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812305	0.50527	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.66638	-0.22;-0.22	5.25	1.43	0.22495	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.74258	2.255	0.43819	D	0.996388	B;P	0.36010	0.397;0.532	B;B	0.41135	0.189;0.348	T	0.55438	-0.8141	10	0.21014	T	0.42	-12.9684	9.1093	0.36718	0.0:0.2864:0.0:0.7136	.	2040;2040	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	E	2040	ENSP00000282516:D2040E;ENSP00000406266:D2040E	ENSP00000282516:D2040E	D	+	3	2	NIPBL	37080217	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	1.636000	0.37144	0.009000	0.14813	-0.353000	0.07706	GAT		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		A	37044460	T	A	37044460	3	1	605	1	0	0	0	0	1	0	0	0	10430	1490	52	5	6254	5	NIPBL	5	37044460	Missense_Mutation	SNP	T	TCGA-CZ-5985-01A-11D-1669-08		37044460	143870800	23	33169											
AGGF1	55109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	76342255	76342255	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr5:76342255G>T	ENST00000312916.7	+	6	1336	c.954G>T	c.(952-954)aaG>aaT	p.K318N		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	318					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)	p.K318N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATATGAAAAAGAAGGCCAAAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											109	117	114					5																	76342255		2203	4300	6503	SO:0001583	missense	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.954G>T	5.37:g.76342255G>T	ENSP00000316109:p.Lys318Asn		O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852960	0.32699	.	.	ENSG00000164252	ENST00000312916	T	0.39997	1.05	5.29	5.29	0.74685	.	0.108901	0.64402	D	0.000008	T	0.33352	0.0860	L	0.39898	1.24	0.80722	D	1	P	0.43094	0.799	B	0.37508	0.252	T	0.24083	-1.0170	10	0.72032	D	0.01	-23.083	11.5679	0.50815	0.0826:0.0:0.9174:0.0	.	318	Q8N302	AGGF1_HUMAN	N	318	ENSP00000316109:K318N	ENSP00000316109:K318N	K	+	3	2	AGGF1	76378011	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	3.210000	0.51129	2.470000	0.83445	0.591000	0.81541	AAG		0.393	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		T	76342255	G	T	76342255	3	4	605	1	0	0	0	0	1	0	0	0	382	933	33	4	976	4	AGGF1	5	76342255	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	39297795	76342255	104573005	24	33170											
HSPA9	3313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137903401	137903401	+	Silent	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr5:137903401C>T	ENST00000297185.3	-	6	671	c.546G>A	c.(544-546)ttG>ttA	p.L182L	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	182					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.L182L(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTGTGCCCCAAGTAATTTT	0.383																																																1	Substitution - coding silent(1)	kidney(1)											56	52	53					5																	137903401		2203	4300	6503	SO:0001819	synonymous_variant	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.546G>A	5.37:g.137903401C>T			B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	ENST00000297185.3	37	CCDS4208.1																																																																																				0.383	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		T	137903401	C	T	137903401	2	4	605	1	0	0	0	0	0	0	0	1	7419	593	21	2		2	HSPA9	5	137903401	Silent	SNP	C	TCGA-CZ-5985-01A-11D-1669-08	61561146	137903401	43011859	25	33171											
CD83	9308	broad.mit.edu	37	6	14118278	14118278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr6:14118278C>A	ENST00000379153.3	+	2	306	c.135C>A	c.(133-135)taC>taA	p.Y45*		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	45	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.Y45*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				AGGTTCCCTACACGGTCTCCT	0.637																																																1	Substitution - Nonsense(1)	kidney(1)											26	26	26					6																	14118278		2203	4300	6503	SO:0001587	stop_gained	9308			Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1703	protein-coding gene	gene with protein product		604534	"CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)", "CD83 molecule "			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.135C>A	6.37:g.14118278C>A	ENSP00000368450:p.Tyr45*		Q5THX9	Nonsense_Mutation	SNP	ENST00000379153.3	37	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169138	0.78339	.	.	ENSG00000112149	ENST00000379153	.	.	.	4.56	1.72	0.24424	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6159	7.1489	0.25599	0.0:0.7079:0.0:0.2921	.	.	.	.	X	45	.	ENSP00000368450:Y45X	Y	+	3	2	CD83	14226257	0.223000	0.23663	0.009000	0.14445	0.054000	0.15201	0.568000	0.23623	0.028000	0.15324	0.491000	0.48974	TAC		0.637	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			A	14118278	C	A	14118278	4	1	605	1	0	0	0	0	0	1	0	0	3043	489	17	4	141	4	CD83	6	14118278	Nonsense_Mutation	SNP	C	TCGA-CZ-5985-01A-11D-1669-08		14118278	156996789	26	33172											
SDK1	221935	broad.mit.edu;ucsc.edu	37	7	4169711	4169711	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr7:4169711G>C	ENST00000404826.2	+	27	4250	c.4111G>C	c.(4111-4113)Gag>Cag	p.E1371Q	SDK1_ENST00000389531.3_Missense_Mutation_p.E1371Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1371	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E1371Q(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTCATCCTGGAGCGCACCAA	0.627																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											39	42	41					7																	4169711		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4111G>C	7.37:g.4169711G>C	ENSP00000385899:p.Glu1371Gln		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590506	0.86851	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.53206	0.63;0.63	5.67	5.67	0.87782	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.70228	0.3200	M	0.74881	2.28	0.46011	D	0.998814	D;D	0.71674	0.998;0.995	D;P	0.70716	0.97;0.867	T	0.71649	-0.4529	10	0.62326	D	0.03	.	19.7534	0.96277	0.0:0.0:1.0:0.0	.	1371;1371	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	Q	1371	ENSP00000385899:E1371Q;ENSP00000374182:E1371Q	ENSP00000374182:E1371Q	E	+	1	0	SDK1	4136237	1.000000	0.71417	0.988000	0.46212	0.957000	0.61999	9.041000	0.93788	2.686000	0.91538	0.655000	0.94253	GAG		0.627	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		C	4169711	G	C	4169711	3	2	605	1	0	0	0	0	1	0	0	0	13974	1175	41	4	4217	4	SDK1	7	4169711	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08		4169711	154968952	27	33173											
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82785211	82785211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr7:82785211G>T	ENST00000333891.9	-	2	1083	c.746C>A	c.(745-747)tCa>tAa	p.S249*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.S249*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S249*(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGAGGTTGTGATTTAATTTT	0.493																																																3	Substitution - Nonsense(3)	kidney(3)											96	87	90					7																	82785211		1970	4165	6135	SO:0001587	stop_gained	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.746C>A	7.37:g.82785211G>T	ENSP00000334319:p.Ser249*			Nonsense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	41	8.808845	0.98962	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.57	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.8284	0.52280	0.0826:0.0:0.9174:0.0	.	.	.	.	X	249	.	ENSP00000334319:S249X	S	-	2	0	PCLO	82623147	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	2.015000	0.40961	1.361000	0.45981	0.655000	0.94253	TCA		0.493	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		T	82785211	G	T	82785211	4	4	605	1	0	0	0	0	0	1	0	0	11585	1294	45	4	14795	4	PCLO	7	82785211	Nonsense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	78615500	82785211	76353452	28	33174											
MLL5	55904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	104752397	104752397	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr7:104752397G>T	ENST00000311117.3	+	27	4739	c.4194G>T	c.(4192-4194)gaG>gaT	p.E1398D	KMT2E_ENST00000334914.7_Missense_Mutation_p.E453D|KMT2E_ENST00000257745.4_Missense_Mutation_p.E1398D|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.E1356D	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1398					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E1398D(1)|p.E1398fs*9(1)									TAAAAACAGAGCTCCAACAAA	0.423																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	prostate(1)|kidney(1)											120	107	112					7																	104752397		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4194G>T	7.37:g.104752397G>T	ENSP00000312379:p.Glu1398Asp		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382344	0.42207	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.91686	-2.89;-2.61;-2.89;0.86	5.22	1.58	0.23477	.	0.000000	0.64402	D	0.000020	T	0.80265	0.4591	N	0.17082	0.46	0.58432	D	0.999991	B;B	0.12630	0.006;0.002	B;B	0.16722	0.016;0.003	T	0.64499	-0.6393	10	0.18710	T	0.47	.	3.4119	0.07361	0.2218:0.1295:0.5179:0.1307	.	1318;1398	F8W6H1;Q8IZD2	.;MLL5_HUMAN	D	1398;1398;1356;1318;1398;453	ENSP00000312379:E1398D;ENSP00000335599:E1356D;ENSP00000257745:E1398D;ENSP00000333986:E453D	ENSP00000257745:E1398D	E	+	3	2	MLL5	104539633	0.988000	0.35896	0.962000	0.40283	0.996000	0.88848	0.105000	0.15333	0.429000	0.26202	0.650000	0.86243	GAG		0.423	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			T	104752397	G	T	104752397	3	4	605	1	0	0	0	0	1	0	0	0	9626	962	34	4	4292	4	MLL5	7	104752397	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	21967186	104752397	54386266	29	33175											
ZNF398	57541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148875840	148875840	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr7:148875840delT	ENST00000475153.1	+	6	1143	c.876delT	c.(874-876)gctfs	p.A292fs	ZNF398_ENST00000540950.1_Frame_Shift_Del_p.A297fs|ZNF398_ENST00000483892.1_Frame_Shift_Del_p.A121fs|ZNF398_ENST00000491174.1_Frame_Shift_Del_p.A121fs|ZNF398_ENST00000335901.4_Frame_Shift_Del_p.A121fs|ZNF398_ENST00000420008.2_Frame_Shift_Del_p.A121fs|ZNF398_ENST00000426851.2_Frame_Shift_Del_p.A121fs			Q8TD17	ZN398_HUMAN	zinc finger protein 398	292					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAAAGGATGCTTTTTCAGATG	0.507																																																0													217	207	210					7																	148875840		2203	4300	6503	SO:0001589	frameshift_variant	57541			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.876delT	7.37:g.148875840delT	ENSP00000420418:p.Ala292fs		A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Frame_Shift_Del	DEL	ENST00000475153.1	37	CCDS5894.1																																																																																				0.507	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			-	148875840	T	-	148875840	7	5	605	1	0	1	0	1	0	0	0	0	17890	1596	56	0	898	0	ZNF398	7	148875840	Frame_Shift_Del	DEL	T	TCGA-CZ-5985-01A-11D-1669-08	44123443	148875840	10262823	30	33176											
LRRC19	64922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	26999658	26999658	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr9:26999658G>A	ENST00000380055.5	-	2	145	c.35C>T	c.(34-36)cCc>cTc	p.P12L	LRRC19_ENST00000482770.1_5'Flank|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	12						integral component of membrane (GO:0016021)		p.P12L(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		CATGGAGAGGGGCCAAAAGAG	0.308																																																1	Substitution - Missense(1)	kidney(1)											66	73	71					9																	26999658		2203	4300	6503	SO:0001583	missense	64922			AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.35C>T	9.37:g.26999658G>A	ENSP00000369395:p.Pro12Leu		A0AV00|B9EG91	Missense_Mutation	SNP	ENST00000380055.5	37	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.536399	0.00942	.	.	ENSG00000184434	ENST00000380055	T	0.49139	0.79	4.78	-2.98	0.05513	.	0.993680	0.08170	N	0.987087	T	0.18425	0.0442	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18840	-1.0324	10	0.23302	T	0.38	0.6122	4.999	0.14255	0.5626:0.0:0.282:0.1555	.	12	Q9H756	LRC19_HUMAN	L	12	ENSP00000369395:P12L	ENSP00000369395:P12L	P	-	2	0	LRRC19	26989658	0.005000	0.15991	0.019000	0.16419	0.001000	0.01503	-0.215000	0.09279	-0.317000	0.08677	-0.229000	0.12294	CCC		0.308	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		A	26999658	G	A	26999658	3	1	605	1	0	0	0	0	1	0	0	0	8977	1232	43	2	1093	2	LRRC19	9	26999658	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08		26999658	114213773	31	33177											
C9orf25	203259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	34402709	34402709	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr9:34402709C>T	ENST00000445726.1	-	3	563	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	FAM219A_ENST00000379078.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000379080.1_Missense_Mutation_p.R74Q|FAM219A_ENST00000379089.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000379087.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000297620.4_Missense_Mutation_p.R69Q|FAM219A_ENST00000379084.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000379081.1_Missense_Mutation_p.R57Q	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	86								p.R69Q(1)									CTACCTTGTTCGGGCCATGAC	0.622																																																1	Substitution - Missense(1)	kidney(1)											180	126	144					9																	34402709		2203	4300	6503	SO:0001583	missense	0			AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 25"	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.257G>A	9.37:g.34402709C>T	ENSP00000392452:p.Arg86Gln		A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	ENST00000445726.1	37	CCDS55304.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397987	0.96030	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409;ENST00000379078	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.75447	2.3	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.998	D;D;D;D;D	0.83275	0.995;0.99;0.996;0.99;0.979	T	0.81302	-0.0994	9	0.59425	D	0.04	-6.0991	17.6693	0.88212	0.0:1.0:0.0:0.0	.	75;86;58;58;69	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	Q	85;68;68;57;74;86;69;85;85	.	ENSP00000297620:R69Q	R	-	2	0	C9orf25	34392709	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.226000	0.78060	2.415000	0.81967	0.561000	0.74099	CGA		0.622	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		T	34402709	C	T	34402709	3	4	605	1	0	0	0	0	1	0	0	0	2478	884	31	1	316	1	C9orf25	9	34402709	Missense_Mutation	SNP	C	TCGA-CZ-5985-01A-11D-1669-08	7403051	34402709	106810722	32	33178											
GAPVD1	26130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	128099711	128099711	+	Silent	SNP	A	A	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr9:128099711A>T	ENST00000495955.1	+	17	3008	c.2718A>T	c.(2716-2718)gtA>gtT	p.V906V	GAPVD1_ENST00000394104.2_Silent_p.V906V|GAPVD1_ENST00000394105.2_Silent_p.V933V|GAPVD1_ENST00000297933.6_Silent_p.V906V|GAPVD1_ENST00000312123.9_Silent_p.V885V|GAPVD1_ENST00000470056.1_Silent_p.V906V|GAPVD1_ENST00000265956.4_Silent_p.V880V|GAPVD1_ENST00000394083.2_Silent_p.V885V			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	906					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.V933V(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGATATAGTATCTTCTGTCC	0.502																																																1	Substitution - coding silent(1)	kidney(1)											79	78	78					9																	128099711		2203	4300	6503	SO:0001819	synonymous_variant	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2718A>T	9.37:g.128099711A>T			A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.637|9.637	1.137966|1.137966	0.21123|0.21123	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000431329	.|.	.|.	.|.	6.17|6.17	-10.0|-10.0	0.00425|0.00425	.|.	.|.	.|.	.|.	.|.	T|T	0.42607|0.42607	0.1210|0.1210	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49835|0.49835	-0.8897|-0.8897	4|4	.|.	.|.	.|.	.|.	5.7828|5.7828	0.18316|0.18316	0.6182:0.0727:0.1635:0.1456|0.6182:0.0727:0.1635:0.1456	.|.	.|.	.|.	.|.	F|F	743|743	.|.	.|.	I|Y	+|+	1|2	0|0	GAPVD1|GAPVD1	127139532|127139532	0.000000|0.000000	0.05858|0.05858	0.027000|0.027000	0.17364|0.17364	0.984000|0.984000	0.73092|0.73092	-1.484000|-1.484000	0.02316|0.02316	-2.106000|-2.106000	0.00841|0.00841	0.533000|0.533000	0.62120|0.62120	ATC|TAT		0.502	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			T	128099711	A	T	128099711	2	4	605	1	0	0	0	0	0	0	0	1	6241	436	16	5		5	GAPVD1	9	128099711	Silent	SNP	A	TCGA-CZ-5985-01A-11D-1669-08	93697002	128099711	13113720	33	33179											
RBM17	84991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	6147033	6147033	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr10:6147033G>A	ENST00000446108.1	+	4	1024	c.380G>A	c.(379-381)aGa>aAa	p.R127K	RBM17_ENST00000379888.4_Missense_Mutation_p.R127K	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	127					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R127K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GAGCTGGAAAGACAAAAGGAA	0.403																																																1	Substitution - Missense(1)	kidney(1)											112	123	119					10																	6147033		2203	4300	6503	SO:0001583	missense	84991			AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.380G>A	10.37:g.6147033G>A	ENSP00000388638:p.Arg127Lys		Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	CCDS7077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.093697|4.093697	0.76870|0.76870	.|.	.|.	ENSG00000134453|ENSG00000134453	ENST00000447032|ENST00000372795;ENST00000379888;ENST00000437845;ENST00000432931;ENST00000446108;ENST00000418631	.|T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38558|0.38558	0.1045|0.1045	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	.|P	.|0.39216	.|0.664	.|B	.|0.36092	.|0.217	T|T	0.16867|0.16867	-1.0388|-1.0388	5|10	.|0.11485	.|T	.|0.65	-23.0839|-23.0839	19.8589|19.8589	0.96776|0.96776	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|127	.|Q96I25	.|SPF45_HUMAN	N|K	34|95;127;95;127;127;127	.|ENSP00000369218:R127K;ENSP00000408214:R127K;ENSP00000388638:R127K;ENSP00000402303:R127K	.|ENSP00000361881:R95K	D|R	+|+	1|2	0|0	RBM17|RBM17	6187039|6187039	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.150000|0.150000	0.21749|0.21749	9.546000|9.546000	0.98097|0.98097	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.403	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		A	6147033	G	A	6147033	3	1	605	1	0	0	0	0	1	0	0	0	13125	942	33	2	390	2	RBM17	10	6147033	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08		6147033	129387714	34	33180											
CDH23	64072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73537549	73537549	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr10:73537549G>T	ENST00000224721.6	+	38	4978	c.4973G>T	c.(4972-4974)aGc>aTc	p.S1658I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1653	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.S1658I(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTCAACACCAGCCTCATCACC	0.577																																																1	Substitution - Missense(1)	kidney(1)											65	64	64					10																	73537549		2166	4262	6428	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4973G>T	10.37:g.73537549G>T	ENSP00000224721:p.Ser1658Ile		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	11.79	1.744364	0.30865	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.76	5.76	0.90799	Cadherin (3);Cadherin-like (1);	0.108808	0.64402	D	0.000008	T	0.42291	0.1196	L	0.31664	0.95	0.80722	D	1	B	0.12013	0.005	B	0.18871	0.023	T	0.28332	-1.0047	9	0.12766	T	0.61	.	10.8029	0.46500	0.0:0.121:0.6401:0.2388	.	1653	Q9H251	CAD23_HUMAN	I	1658;1653;1656	.	ENSP00000224721:S1658I	S	+	2	0	CDH23	73207555	1.000000	0.71417	0.992000	0.48379	0.461000	0.32589	1.401000	0.34589	2.726000	0.93360	0.655000	0.94253	AGC		0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		T	73537549	G	T	73537549	3	4	605	1	0	0	0	0	1	0	0	0	3110	971	34	4	5453	4	CDH23	10	73537549	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	67390516	73537549	61997198	35	33181											
CDH23	5660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73574721	73574721	+	IGR	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr10:73574721G>A	ENST00000394936.3	-	0	2866				CDH23_ENST00000398788.3_Missense_Mutation_p.E1011K|CDH23_ENST00000224721.6_Missense_Mutation_p.E3256K|CDH23_ENST00000475158.1_3'UTR			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)	p.E3256K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GATACAGACTGAGCTGGACGA	0.652																																																1	Substitution - Missense(1)	kidney(1)											15	18	17					10																	73574721		2018	4161	6179	SO:0001628	intergenic_variant	64072			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574721G>A			P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462109	0.84425	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.79653	-1.29	5.42	5.42	0.78866	.	0.195954	0.42964	D	0.000636	T	0.72195	0.3430	N	0.22421	0.69	0.54753	D	0.999982	P;P;B;B	0.40660	0.592;0.726;0.321;0.115	B;B;B;B	0.37601	0.254;0.142;0.03;0.03	T	0.76263	-0.3023	10	0.59425	D	0.04	.	19.2155	0.93776	0.0:0.0:1.0:0.0	.	113;148;3216;3251	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	K	3256;3216;3254;1011	ENSP00000381768:E1011K	ENSP00000224721:E3256K	E	+	1	0	CDH23	73244727	1.000000	0.71417	0.888000	0.34837	0.995000	0.86356	8.999000	0.93557	2.553000	0.86117	0.655000	0.94253	GAG		0.652	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		A	73574721	G	A	73574721	1	1	605	0	1	0	0	0	0	0	0	0	3110	1291	45	2		2	CDH23	10	73574721	IGR	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	37172	73574721	61960026	36	33182											
DNTT	1791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	98064450	98064450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr10:98064450G>T	ENST00000371174.2	+	1	298	c.196G>T	c.(196-198)Gag>Tag	p.E66*	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000419175.1_Nonsense_Mutation_p.E66*			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	66	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.E66*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GGTTGAAAATGAGCTCAGGTA	0.483																																																1	Substitution - Nonsense(1)	kidney(1)											34	40	38					10																	98064450		2203	4300	6503	SO:0001587	stop_gained	1791			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.196G>T	10.37:g.98064450G>T	ENSP00000360216:p.Glu66*		Q53FH1|Q5W103|Q96E50	Nonsense_Mutation	SNP	ENST00000371174.2	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	38	6.699057	0.97772	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	.	.	.	5.9	5.9	0.94986	.	0.110890	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	17.7564	0.88450	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000360216:E66X	E	+	1	0	DNTT	98054440	1.000000	0.71417	0.995000	0.50966	0.796000	0.44982	6.309000	0.72825	2.802000	0.96397	0.650000	0.86243	GAG		0.483	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		T	98064450	G	T	98064450	4	4	605	1	0	0	0	0	0	1	0	0	4682	1291	45	4	198	4	DNTT	10	98064450	Nonsense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	24489729	98064450	37470297	37	33183											
SPRYD5	84767	broad.mit.edu	37	11	55653110	55653110	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr11:55653110G>A	ENST00000449290.2	+	2	298	c.206G>A	c.(205-207)tGt>tAt	p.C69Y	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	69						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.C69Y(1)									ACTGACATTTGTTTGAAGAAC	0.488																																																1	Substitution - Missense(1)	kidney(1)											31	27	28					11																	55653110		692	1591	2283	SO:0001583	missense	0			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.206G>A	11.37:g.55653110G>A	ENSP00000395086:p.Cys69Tyr		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	0.001	-2.983699	0.00046	.	.	ENSG00000124900	ENST00000449290	D	0.83837	-1.77	0.803	-1.61	0.08399	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.56016	0.1957	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.43686	-0.9376	9	0.07030	T	0.85	.	2.167	0.03840	0.2456:0.0:0.2532:0.5011	.	69	Q9BSJ1	SPRY5_HUMAN	Y	69	ENSP00000395086:C69Y	ENSP00000395086:C69Y	C	+	2	0	SPRYD5	55409686	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.018000	0.12568	-0.972000	0.03559	0.152000	0.16155	TGT		0.488	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		A	55653110	G	A	55653110	3	1	605	1	0	0	0	0	1	0	0	0	15116	1377	48	2	208	2	SPRYD5	11	55653110	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08		55653110	79353406	38	33184											
DSCAML1	57453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117309653	117309653	+	Silent	SNP	C	C	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr11:117309653C>A	ENST00000321322.6	-	24	4372	c.4371G>T	c.(4369-4371)tcG>tcT	p.S1457S	DSCAML1_ENST00000527706.1_Silent_p.S1187S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1397	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.S1457S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGTGATGGACGAAGCTGAGG	0.617																																																1	Substitution - coding silent(1)	kidney(1)											69	69	69					11																	117309653		2201	4296	6497	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4371G>T	11.37:g.117309653C>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		A	117309653	C	A	117309653	2	1	605	1	0	0	0	0	0	0	0	1	4771	523	19	4		4	DSCAML1	11	117309653	Silent	SNP	C	TCGA-CZ-5985-01A-11D-1669-08	61656543	117309653	17696863	39	33185											
SLC2A14	144195	broad.mit.edu;hgsc.bcm.edu	37	12	7967055	7967055	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr12:7967055C>T	ENST00000543909.1	-	16	2179	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	SLC2A14_ENST00000431042.2_Missense_Mutation_p.V451I|SLC2A14_ENST00000535295.1_Missense_Mutation_p.V365I|SLC2A14_ENST00000542546.1_Missense_Mutation_p.V365I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V474I|SLC2A14_ENST00000542505.1_Missense_Mutation_p.V115I|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V451I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.V489I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	474					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.V474I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTCTCAGGGACTTTGAAGAAG	0.483																																																1	Substitution - Missense(1)	kidney(1)											73	70	71					12																	7967055		2203	4300	6503	SO:0001583	missense	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1420G>A	12.37:g.7967055C>T	ENSP00000440480:p.Val474Ile		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363439	0.61513	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	3.81	1.94	0.25998	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.120780	0.56097	D	0.000039	T	0.81451	0.4825	M	0.69823	2.125	0.49582	D	0.999802	D;D;P;B	0.59357	0.985;0.959;0.791;0.332	P;P;P;P	0.59012	0.85;0.764;0.523;0.597	T	0.77107	-0.2710	10	0.41790	T	0.15	.	6.9467	0.24522	0.0:0.7188:0.1771:0.104	.	489;365;451;474	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	I	451;474;451;115;474;365;365;489	ENSP00000340450:V451I;ENSP00000440480:V474I;ENSP00000407287:V451I;ENSP00000438484:V115I;ENSP00000379834:V474I;ENSP00000440492:V365I;ENSP00000443903:V365I;ENSP00000445929:V489I	ENSP00000340450:V451I	V	-	1	0	SLC2A14	7858322	1.000000	0.71417	0.997000	0.53966	0.820000	0.46376	6.956000	0.76013	0.218000	0.20820	-0.481000	0.04817	GTC		0.483	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		T	7967055	C	T	7967055	3	4	605	1	0	0	0	0	1	0	0	0	14549	565	20	2	146	2	SLC2A14	12	7967055	Missense_Mutation	SNP	C	TCGA-CZ-5985-01A-11D-1669-08		7967055	125884840	40	33186											
SLITRK6	84189	broad.mit.edu;ucsc.edu	37	13	86368849	86368849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr13:86368849G>A	ENST00000400286.2	-	2	2393	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	599					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.R599*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTAAGAGATCGTAAAATAGTA	0.423																																																1	Substitution - Nonsense(1)	kidney(1)											151	147	149					13																	86368849		1997	4177	6174	SO:0001587	stop_gained	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1795C>T	13.37:g.86368849G>A	ENSP00000383143:p.Arg599*		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Nonsense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	38	6.761020	0.97817	.	.	ENSG00000184564	ENST00000400286	.	.	.	5.65	3.2	0.36748	.	0.543993	0.17620	U	0.167754	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-3.8753	12.3141	0.54946	0.0:0.0:0.4276:0.5724	.	.	.	.	X	599	.	ENSP00000383143:R599X	R	-	1	2	SLITRK6	85266850	0.238000	0.23825	0.077000	0.20336	0.051000	0.14879	1.702000	0.37836	0.408000	0.25621	-0.262000	0.10625	CGA		0.423	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		A	86368849	G	A	86368849	4	1	605	1	0	0	0	0	0	1	0	0	14753	1153	40	1	734	1	SLITRK6	13	86368849	Nonsense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08		86368849	28801029	41	33187											
NDN	4692	broad.mit.edu;hgsc.bcm.edu	37	15	23931882	23931882	+	Silent	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr15:23931882G>A	ENST00000331837.4	-	1	568	c.483C>T	c.(481-483)caC>caT	p.H161H		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	161	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H161H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACTCCATGGTGTGCAGGCTGG	0.637									Prader-Willi syndrome																																							1	Substitution - coding silent(1)	kidney(1)											32	32	32					15																	23931882		2203	4300	6503	SO:0001819	synonymous_variant	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.483C>T	15.37:g.23931882G>A			B2R6Z5	Silent	SNP	ENST00000331837.4	37	CCDS10014.1																																																																																				0.637	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		A	23931882	G	A	23931882	2	1	605	1	0	0	0	0	0	0	0	1	10249	1368	48	2		2	NDN	15	23931882	Silent	SNP	G	TCGA-CZ-5985-01A-11D-1669-08		23931882	78599510	42	33188											
ATF7IP2	80063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10524570	10524570	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:10524570G>C	ENST00000396560.2	+	3	320	c.93G>C	c.(91-93)aaG>aaC	p.K31N	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.K31N|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.K31N|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.K31N	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K31N(1)		large_intestine(3)	3						TGCTGAATAAGTCAAGGAATG	0.403																																																1	Substitution - Missense(1)	kidney(1)											82	77	79					16																	10524570		2197	4300	6497	SO:0001583	missense	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.93G>C	16.37:g.10524570G>C	ENSP00000379808:p.Lys31Asn		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053632	0.55218	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.34859	1.34;1.34	4.73	1.49	0.22878	.	0.124740	0.35970	N	0.002869	T	0.45796	0.1360	L	0.47716	1.5	0.24408	N	0.994678	D;D	0.89917	0.998;1.0	D;D	0.87578	0.964;0.998	T	0.15925	-1.0420	10	0.87932	D	0	-9.3919	5.9122	0.19035	0.3421:0.0:0.6579:0.0	.	31;31	Q5U623-2;Q5U623	.;MCAF2_HUMAN	N	31	ENSP00000379808:K31N;ENSP00000348799:K31N	ENSP00000322811:K31N	K	+	3	2	ATF7IP2	10432071	0.993000	0.37304	0.997000	0.53966	0.799000	0.45148	1.519000	0.35888	0.607000	0.29982	0.467000	0.42956	AAG		0.403	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		C	10524570	G	C	10524570	3	2	605	1	0	0	0	0	1	0	0	0	1088	1020	36	4	95	4	ATF7IP2	16	10524570	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08		10524570	79830183	43	33189											
ACSM5	54988	hgsc.bcm.edu;ucsc.edu	37	16	20435331	20435332	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:20435331_20435332insA	ENST00000331849.4	+	6	1008_1009	c.861_862insA	c.(862-864)aatfs	p.N288fs		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	288					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGCCTGGCCTAATGGATCTTG	0.505																																																0																																										SO:0001589	frameshift_variant	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.863dupA	16.37:g.20435333_20435333dupA	ENSP00000327916:p.Asn288fs		Q96AV1|Q96CX8|Q9NWV3	Frame_Shift_Ins	INS	ENST00000331849.4	37	CCDS10585.1																																																																																				0.505	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		A	20435332	-	A	20435331	7	5	605	1	0	1	1	0	0	0	0	0	187	1509	53	0	879	0	ACSM5	16	20435331	Frame_Shift_Ins	INS	-	TCGA-CZ-5985-01A-11D-1669-08	9910761	20435331	69919422	44	33190											
GTF3C1	2975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27504025	27504025	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:27504025A>C	ENST00000356183.4	-	18	2901	c.2886T>G	c.(2884-2886)atT>atG	p.I962M	GTF3C1_ENST00000561623.1_Missense_Mutation_p.I962M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	962					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.I962M(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCACCGAAAAAATGTAACGCC	0.552																																																1	Substitution - Missense(1)	kidney(1)											95	98	97					16																	27504025		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2886T>G	16.37:g.27504025A>C	ENSP00000348510:p.Ile962Met		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932911	0.52866	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.28895	1.59	5.43	-10.9	0.00192	.	0.113826	0.64402	D	0.000013	T	0.38799	0.1054	M	0.77103	2.36	0.24652	N	0.993518	D;D	0.69078	0.997;0.991	D;P	0.63877	0.919;0.885	T	0.60485	-0.7254	10	0.87932	D	0	-13.1948	6.0399	0.19728	0.1351:0.148:0.4975:0.2194	.	962;962	Q12789;Q12789-3	TF3C1_HUMAN;.	M	962;960	ENSP00000348510:I962M	ENSP00000348510:I962M	I	-	3	3	GTF3C1	27411526	0.204000	0.23447	0.005000	0.12908	0.646000	0.38490	-0.370000	0.07523	-3.370000	0.00177	-1.157000	0.01802	ATT		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		C	27504025	A	C	27504025	3	2	605	1	0	0	0	0	1	0	0	0	6874	10	1	5	3523	5	GTF3C1	16	27504025	Missense_Mutation	SNP	A	TCGA-CZ-5985-01A-11D-1669-08	7068694	27504025	62850728	45	33191											
C16orf53	79447	broad.mit.edu	37	16	29831005	29831005	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:29831005A>C	ENST00000320330.6	+	3	1257	c.695A>C	c.(694-696)gAc>gCc	p.D232A	MVP_ENST00000357402.5_5'Flank|AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.D232A|MVP_ENST00000452209.2_5'Flank|AC009133.12_ENST00000569809.1_RNA|MVP_ENST00000395353.1_5'Flank|AC009133.20_ENST00000569039.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	232						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.D232A(1)									GACTCGGAGGACCCCAGCCCC	0.627																																																1	Substitution - Missense(1)	kidney(1)											63	68	66					16																	29831005		2197	4300	6497	SO:0001583	missense	0			BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"glutamate-rich coactivator interacting with SRC1/NCOA1", "PTIP-associated 1 protein", "glutamate-rich coactivator associated with SRC1"	612033	"chromosome 16 open reading frame 53"	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.695A>C	16.37:g.29831005A>C	ENSP00000326519:p.Asp232Ala		A2ICR6	Missense_Mutation	SNP	ENST00000320330.6	37	CCDS10655.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.346782	0.24426	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.82	2.26	0.28386	.	0.569994	0.19944	N	0.102589	T	0.21674	0.0522	N	0.22421	0.69	0.27834	N	0.941339	B	0.12630	0.006	B	0.12837	0.008	T	0.21280	-1.0250	9	0.12766	T	0.61	-5.3423	3.8337	0.08885	0.6689:0.0:0.1747:0.1564	.	232	Q9BTK6	PA1_HUMAN	A	232	.	ENSP00000326519:D232A	D	+	2	0	C16orf53	29738506	0.999000	0.42202	0.997000	0.53966	0.490000	0.33462	1.793000	0.38764	0.111000	0.17947	0.533000	0.62120	GAC		0.627	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		C	29831005	A	C	29831005	3	2	605	1	0	0	0	0	1	0	0	0	1820	275	10	5	705	5	C16orf53	16	29831005	Missense_Mutation	SNP	A	TCGA-CZ-5985-01A-11D-1669-08	2326980	29831005	60523748	46	33192											
SPG7	6687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89595969	89595969	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:89595969A>T	ENST00000268704.2	+	6	858	c.843A>T	c.(841-843)gaA>gaT	p.E281D	SPG7_ENST00000341316.2_Missense_Mutation_p.E281D	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	281					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.E281D(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGGAAGGGAAGGTGGATTCA	0.488																																																2	Substitution - Missense(2)	kidney(2)											115	96	102					16																	89595969		2198	4300	6498	SO:0001583	missense	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.843A>T	16.37:g.89595969A>T	ENSP00000268704:p.Glu281Asp		O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	A	9.844	1.191793	0.21954	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.93712	-3.09;-3.27	5.7	5.7	0.88788	Peptidase M41, FtsH (2);	0.139680	0.64402	D	0.000004	D	0.84456	0.5476	N	0.05078	-0.115	0.35867	D	0.827947	B;B	0.12630	0.001;0.006	B;B	0.15052	0.003;0.012	T	0.82198	-0.0576	10	0.12766	T	0.61	.	15.6313	0.76912	1.0:0.0:0.0:0.0	.	281;281	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	D	281	ENSP00000268704:E281D;ENSP00000341157:E281D	ENSP00000268704:E281D	E	+	3	2	SPG7	88123470	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	1.832000	0.39151	2.186000	0.69663	0.456000	0.33151	GAA		0.488	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		T	89595969	A	T	89595969	3	4	605	1	0	0	0	0	1	0	0	0	15049	69	3	5	865	5	SPG7	16	89595969	Missense_Mutation	SNP	A	TCGA-CZ-5985-01A-11D-1669-08	59764964	89595969	758784	47	33193											
C19orf57	79173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14000172	14000172	+	Silent	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:14000172C>T	ENST00000586783.1	-	5	1496	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.Q499Q|C19orf57_ENST00000454313.1_Silent_p.Q499Q			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	499					multicellular organismal development (GO:0007275)			p.Q499Q(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAATGCCCTGCTGAGCCCCGG	0.612																																																1	Substitution - coding silent(1)	kidney(1)											66	73	70					19																	14000172		2203	4300	6503	SO:0001819	synonymous_variant	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1497G>A	19.37:g.14000172C>T			Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37																																																																																					0.612	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		T	14000172	C	T	14000172	2	4	605	1	0	0	0	0	0	0	0	1	1941	796	28	2		2	C19orf57	19	14000172	Silent	SNP	C	TCGA-CZ-5985-01A-11D-1669-08		14000172	45128811	48	33194											
KIAA0892	23383	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19453474	19453474	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:19453474G>T	ENST00000392313.6	+	8	1045	c.866G>T	c.(865-867)tGt>tTt	p.C289F	MAU2_ENST00000262815.8_Missense_Mutation_p.C289F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	289					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.C289F(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GAGCACATGTGTGTGCTTGTC	0.657											OREG0025380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											110	117	114					19																	19453474		2160	4265	6425	SO:0001583	missense	23383			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.866G>T	19.37:g.19453474G>T	ENSP00000376127:p.Cys289Phe	733	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242619	0.58995	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	L	0.50333	1.59	0.80722	D	1	B	0.24043	0.096	B	0.25759	0.063	T	0.53063	-0.8491	9	0.15952	T	0.53	.	17.8538	0.88756	0.0:0.0:1.0:0.0	.	289	Q9Y6X3	SCC4_HUMAN	F	289	.	ENSP00000262815:C289F	C	+	2	0	MAU2	19314474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.481000	0.97933	2.569000	0.86673	0.563000	0.77884	TGT		0.657	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		T	19453474	G	T	19453474	3	4	605	1	0	0	0	0	1	0	0	0	8198	1377	48	4	896	4	KIAA0892	19	19453474	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	5453302	19453474	39675509	49	33195											
ARHGAP35	2909	hgsc.bcm.edu;ucsc.edu	37	19	47424672	47424672	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:47424672delG	ENST00000404338.3	+	1	2740	c.2740delG	c.(2740-2742)gaafs	p.E914fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	914					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GATTGCTCAAGAAATTGACGG	0.443																																																0													113	112	113					19																	47424672		1951	4149	6100	SO:0001589	frameshift_variant	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2740delG	19.37:g.47424672delG	ENSP00000385720:p.Glu914fs		A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	CCDS46127.1																																																																																				0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		-	47424672	G	-	47424672	7	5	605	1	0	1	0	1	0	0	0	0	6797	943	33	0	2742	0	ARHGAP35	19	47424672	Frame_Shift_Del	DEL	G	TCGA-CZ-5985-01A-11D-1669-08	27971198	47424672	11704311	50	33196	248	2									
ARHGAP35	2909	hgsc.bcm.edu	37	19	47424676	47424676	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:47424676T>A	ENST00000404338.3	+	1	2744	c.2744T>A	c.(2743-2745)aTt>aAt	p.I915N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	915					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GCTCAAGAAATTGACGGAAGG	0.443																																																0													114	114	114					19																	47424676		1950	4147	6097	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2744T>A	19.37:g.47424676T>A	ENSP00000385720:p.Ile915Asn		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.572239	0.65765	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.10960	2.82	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	L	0.55990	1.75	0.80722	D	1	D	0.67145	0.996	D	0.66602	0.945	T	0.00591	-1.1655	10	0.87932	D	0	-23.8008	15.1077	0.72334	0.0:0.0:0.0:1.0	.	915	Q9NRY4-2	.	N	915	ENSP00000385720:I915N	ENSP00000324820:I915N	I	+	2	0	ARHGAP35	52116516	1.000000	0.71417	0.480000	0.27341	0.961000	0.63080	8.037000	0.88933	2.214000	0.71695	0.533000	0.62120	ATT		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		A	47424676	T	A	47424676	3	1	605	1	0	0	0	0	1	0	0	0	6797	1493	52	5	2746	5	ARHGAP35	19	47424676	Missense_Mutation	SNP	T	TCGA-CZ-5985-01A-11D-1669-08	4	47424676	11704307	51	33197	248	2									
SLC8A2	6543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47969450	47969450	+	Silent	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:47969450G>T	ENST00000236877.6	-	2	606	c.211C>A	c.(211-213)Cgg>Agg	p.R71R	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	71					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.R71R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACCACTGCCCGTGCCGCCTTG	0.642																																																1	Substitution - coding silent(1)	kidney(1)											70	52	58					19																	47969450		2203	4300	6503	SO:0001819	synonymous_variant	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.211C>A	19.37:g.47969450G>T			B4DYQ9	Silent	SNP	ENST00000236877.6	37	CCDS33065.1																																																																																				0.642	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			T	47969450	G	T	47969450	2	4	605	1	0	0	0	0	0	0	0	1	14713	1144	40	4		4	SLC8A2	19	47969450	Silent	SNP	G	TCGA-CZ-5985-01A-11D-1669-08	544774	47969450	11159533	52	33198											
HRC	3270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49658118	49658118	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:49658118T>C	ENST00000252825.4	-	1	563	c.377A>G	c.(376-378)gAg>gGg	p.E126G	TRPM4_ENST00000355712.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000252826.5_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.E126G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	126	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.E126G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCCACCATGCTCTGCAAAGAC	0.607																																					Melanoma(37;75 1097 24567 25669 30645)											1	Substitution - Missense(1)	kidney(1)											135	110	118					19																	49658118		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.377A>G	19.37:g.49658118T>C	ENSP00000252825:p.Glu126Gly		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	T	9.943	1.218122	0.22373	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.07444	3.19	2.51	1.47	0.22746	.	.	.	.	.	T	0.07954	0.0199	L	0.56199	1.76	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38178	-0.9673	9	0.24483	T	0.36	-1.2838	5.3728	0.16148	0.0:0.16:0.0:0.84	.	126	P23327	SRCH_HUMAN	G	126;96	ENSP00000252825:E126G	ENSP00000252825:E126G	E	-	2	0	HRC	54349930	0.001000	0.12720	0.025000	0.17156	0.038000	0.13279	0.194000	0.17135	0.393000	0.25203	0.379000	0.24179	GAG		0.607	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		C	49658118	T	C	49658118	3	2	605	1	0	0	0	0	1	0	0	0	7354	1551	54	3	1746	3	HRC	19	49658118	Missense_Mutation	SNP	T	TCGA-CZ-5985-01A-11D-1669-08	1688668	49658118	9470865	53	33199											
ZNF615	284370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52497620	52497620	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:52497620A>G	ENST00000602063.1	-	6	1058	c.709T>C	c.(709-711)Tgt>Cgt	p.C237R	ZNF615_ENST00000594083.1_Missense_Mutation_p.C248R|ZNF615_ENST00000376716.5_Missense_Mutation_p.C237R|ZNF615_ENST00000598071.1_Missense_Mutation_p.C248R|ZNF615_ENST00000391795.3_Missense_Mutation_p.C242R			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C237R(1)|p.C248R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCTTTCCCACACATACTGCAT	0.408																																																2	Substitution - Missense(2)	kidney(2)											159	152	155					19																	52497620		2203	4300	6503	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.709T>C	19.37:g.52497620A>G	ENSP00000473089:p.Cys237Arg		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.400244	0.42613	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	D;D	0.85955	-2.05;-2.05	3.23	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93986	0.8074	H	0.96111	3.77	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.94557	0.7759	9	0.72032	D	0.01	.	10.9689	0.47428	1.0:0.0:0.0:0.0	.	242;244;248;237	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	R	237;247;242;247	ENSP00000365906:C237R;ENSP00000375672:C242R	ENSP00000347019:C247R	C	-	1	0	ZNF615	57189432	0.961000	0.32948	0.134000	0.22075	0.571000	0.35966	3.755000	0.55197	1.470000	0.48102	0.454000	0.30748	TGT		0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		G	52497620	A	G	52497620	3	3	605	1	0	0	0	0	1	0	0	0	18045	159	6	3	1490	3	ZNF615	19	52497620	Missense_Mutation	SNP	A	TCGA-CZ-5985-01A-11D-1669-08	2839502	52497620	6631363	54	33200											
PREX1	57580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47266686	47266686	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr20:47266686G>A	ENST00000371941.3	-	24	2898	c.2876C>T	c.(2875-2877)cCc>cTc	p.P959L	PREX1_ENST00000396220.1_Missense_Mutation_p.P959L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	959					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P959L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGCGGGTGGGGCTCCAGGGG	0.602																																																2	Substitution - Missense(2)	kidney(2)											74	84	81					20																	47266686		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2876C>T	20.37:g.47266686G>A	ENSP00000361009:p.Pro959Leu		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	9.884	1.202466	0.22121	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.45276	0.9;0.9	5.71	3.76	0.43208	.	0.389610	0.21433	U	0.074610	T	0.31482	0.0798	L	0.51422	1.61	0.54753	D	0.999985	B;B	0.19935	0.0;0.04	B;B	0.24269	0.002;0.052	T	0.05767	-1.0865	10	0.10636	T	0.68	.	6.1104	0.20097	0.1379:0.0:0.5948:0.2672	.	959;256	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	L	959	ENSP00000361009:P959L;ENSP00000379522:P959L	ENSP00000361009:P959L	P	-	2	0	PREX1	46700093	1.000000	0.71417	0.943000	0.38184	0.706000	0.40770	3.073000	0.50057	0.765000	0.33221	0.655000	0.94253	CCC		0.602	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		A	47266686	G	A	47266686	3	1	605	1	0	0	0	0	1	0	0	0	12481	1232	43	2	2171	2	PREX1	20	47266686	Missense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08		47266686	15758834	55	33201											
TMPRSS15	5651	broad.mit.edu;hgsc.bcm.edu	37	21	19716370	19716370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr21:19716370G>T	ENST00000284885.3	-	11	1212	c.1179C>A	c.(1177-1179)taC>taA	p.Y393*		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	393	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y393*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGGTAGAAATGTAAAATCCTG	0.383																																																1	Substitution - Nonsense(1)	kidney(1)											59	63	62					21																	19716370		2203	4300	6503	SO:0001587	stop_gained	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1179C>A	21.37:g.19716370G>T	ENSP00000284885:p.Tyr393*		Q2NKL7	Nonsense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414797	0.96092	.	.	ENSG00000154646	ENST00000284885	.	.	.	5.15	0.677	0.17964	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2367	0.20766	0.5551:0.0:0.4449:0.0	.	.	.	.	X	393	.	.	Y	-	3	2	TMPRSS15	18638241	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.372000	0.34261	0.286000	0.22352	0.460000	0.39030	TAC		0.383	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		T	19716370	G	T	19716370	4	4	605	1	0	0	0	0	0	1	0	0	16251	1372	48	4	1940	4	TMPRSS15	21	19716370	Nonsense_Mutation	SNP	G	TCGA-CZ-5985-01A-11D-1669-08		19716370	28413525	56	33202											
DEPDC5	9681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32198825	32198825	+	Splice_Site	SNP	G	G	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr22:32198825G>C	ENST00000382112.3	+	14	1151		c.e14+1		DEPDC5_ENST00000400242.3_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site|DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000400246.1_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000400248.2_Splice_Site	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5						intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.?(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATAGATAATGGTAATGCTCTC	0.517																																																2	Unknown(2)	kidney(2)											152	151	151					22																	32198825		2051	4208	6259	SO:0001630	splice_region_variant	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1081+1G>C	22.37:g.32198825G>C			A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Splice_Site	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851308	0.71719	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3458	0.90321	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEPDC5	30528825	1.000000	0.71417	0.995000	0.50966	0.614000	0.37383	9.554000	0.98121	2.573000	0.86826	0.650000	0.86243	.		0.517	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	Intron	C	32198825	G	C	32198825	5	2	605	1	0	0	0	0	0	0	1	0	4444	1275	44	4	1136	4	DEPDC5	22	32198825	Splice_Site	SNP	G	TCGA-CZ-5985-01A-11D-1669-08		32198825	19105741	57	33203											
HUWE1	10075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53615356	53615356	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chrX:53615356T>A	ENST00000342160.3	-	36	5057	c.4600A>T	c.(4600-4602)Acg>Tcg	p.T1534S	HUWE1_ENST00000218328.8_Missense_Mutation_p.T1534S|HUWE1_ENST00000262854.6_Missense_Mutation_p.T1534S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1534					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.T1534S(1)|p.T1397S(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAAAGTAGCGTTAAAAGCAAG	0.403																																																2	Substitution - Missense(2)	kidney(2)											96	73	80					X																	53615356		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4600A>T	X.37:g.53615356T>A	ENSP00000340648:p.Thr1534Ser		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.82|15.82	2.947335|2.947335	0.53186|0.53186	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854;ENST00000218328	.|T;T;T	.|0.47869	.|1.13;1.13;0.83	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Armadillo-like helical (1);	.|0.119337	.|0.56097	.|D	.|0.000037	T|T	0.42200|0.42200	0.1192|0.1192	N|N	0.19112|0.19112	0.55|0.55	0.54753|0.54753	D|D	0.999989|0.999989	.|B;P	.|0.52692	.|0.136;0.955	.|B;P	.|0.50270	.|0.045;0.636	T|T	0.24154|0.24154	-1.0168|-1.0168	5|10	.|0.24483	.|T	.|0.36	.|.	14.0422|14.0422	0.64684|0.64684	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1534;1534	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	I|S	567|1534	.|ENSP00000340648:T1534S;ENSP00000262854:T1534S;ENSP00000218328:T1534S	.|ENSP00000218328:T1534S	N|T	-|-	2|1	0|0	HUWE1|HUWE1	53632081|53632081	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.940000|0.940000	0.58332|0.58332	7.708000|7.708000	0.84633|0.84633	1.962000|1.962000	0.57031|0.57031	0.486000|0.486000	0.48141|0.48141	AAC|ACG		0.403	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		A	53615356	T	A	53615356	3	1	605	1	0	0	0	0	1	0	0	0	7463	1725	60	5	8716	5	HUWE1	23	53615356	Missense_Mutation	SNP	T	TCGA-CZ-5985-01A-11D-1669-08		53615356	101655204	58	33204											
ARHGEF6	9459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135829736	135829736	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chrX:135829736C>T	ENST00000250617.6	-	3	1470	c.265G>A	c.(265-267)Gac>Aac	p.D89N	ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	89	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D89N(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GAATAAAGGTCATCAGGATCA	0.393																																																1	Substitution - Missense(1)	kidney(1)											72	65	67					X																	135829736		2203	4300	6503	SO:0001583	missense	9459			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.265G>A	X.37:g.135829736C>T	ENSP00000250617:p.Asp89Asn		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710791	0.89112	.	.	ENSG00000129675	ENST00000250617	D	0.97480	-4.4	5.57	5.57	0.84162	Calponin homology domain (5);	0.162241	0.64402	D	0.000012	D	0.98899	0.9627	H	0.94808	3.585	0.80722	D	1	P	0.42973	0.796	D	0.63703	0.917	D	0.99136	1.0854	10	0.52906	T	0.07	.	17.4108	0.87485	0.0:1.0:0.0:0.0	.	89	Q15052	ARHG6_HUMAN	N	89	ENSP00000250617:D89N	ENSP00000250617:D89N	D	-	1	0	ARHGEF6	135657402	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.455000	0.44988	2.325000	0.78763	0.529000	0.55759	GAC		0.393	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		T	135829736	C	T	135829736	3	4	605	1	0	0	0	0	1	0	0	0	910	826	29	2	2145	2	ARHGEF6	23	135829736	Missense_Mutation	SNP	C	TCGA-CZ-5985-01A-11D-1669-08	82214380	135829736	19440824	59	33205											
VPS13D	55187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12408985	12408985	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:12408985G>A	ENST00000358136.3	+	45	9305	c.9175G>A	c.(9175-9177)Gag>Aag	p.E3059K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3034K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.E3059K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAACAGACTTGAGACACCAAT	0.463																																																1	Substitution - Missense(1)	kidney(1)											121	110	114					1																	12408985		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9175G>A	1.37:g.12408985G>A	ENSP00000350854:p.Glu3059Lys			Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848647	0.91277	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.52057	0.68;0.69	5.91	5.91	0.95273	.	0.048878	0.85682	D	0.000000	T	0.36413	0.0966	N	0.14661	0.345	0.80722	D	1	B;B	0.28082	0.2;0.126	B;B	0.28011	0.077;0.085	T	0.11916	-1.0568	10	0.38643	T	0.18	.	19.8836	0.96906	0.0:0.0:1.0:0.0	.	3034;3058	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	3034;3059	ENSP00000348666:E3034K;ENSP00000350854:E3059K	ENSP00000348666:E3034K	E	+	1	0	VPS13D	12331572	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	9.476000	0.97823	2.791000	0.96007	0.650000	0.86243	GAG		0.463	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		A	12408985	G	A	12408985	3	1	606	1	0	0	0	0	1	0	0	0	17197	1291	45	2	9349	2	VPS13D	1	12408985	Missense_Mutation	SNP	G	TCGA-CZ-5986-01A-11D-1669-08		12408985	236841636	1	33206											
PADI3	51702	broad.mit.edu;ucsc.edu	37	1	17609393	17609393	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:17609393C>G	ENST00000375460.3	+	16	1854	c.1814C>G	c.(1813-1815)cCc>cGc	p.P605R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	605					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.P605R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCTTTGGGCCCATCATCAAT	0.607																																																1	Substitution - Missense(1)	kidney(1)											65	52	57					1																	17609393		2203	4300	6503	SO:0001583	missense	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1814C>G	1.37:g.17609393C>G	ENSP00000364609:p.Pro605Arg		Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336319	0.81801	.	.	ENSG00000142619	ENST00000375460	T	0.52983	0.64	5.14	5.14	0.70334	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.93720	3.45	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.84020	0.0353	10	0.87932	D	0	-26.9383	17.188	0.86871	0.0:1.0:0.0:0.0	.	605	Q9ULW8	PADI3_HUMAN	R	605	ENSP00000364609:P605R	ENSP00000364609:P605R	P	+	2	0	PADI3	17481980	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.581000	0.82535	2.387000	0.81309	0.655000	0.94253	CCC		0.607	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			G	17609393	C	G	17609393	3	3	606	1	0	0	0	0	1	0	0	0	11381	623	22	4	1876	4	PADI3	1	17609393	Missense_Mutation	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	5200408	17609393	231641228	2	33207											
C1orf135	79000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26162026	26162026	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:26162026C>T	ENST00000374298.3	-	3	586	c.532G>A	c.(532-534)Gac>Aac	p.D178N	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.D178N	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	178					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.D178N(1)									CTTTCCAAGTCCTCGGTGAAG	0.443																																																1	Substitution - Missense(1)	kidney(1)											151	156	155					1																	26162026		2203	4300	6503	SO:0001583	missense	0				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 135"	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.532G>A	1.37:g.26162026C>T	ENSP00000363416:p.Asp178Asn		C9EI59|Q53F70	Missense_Mutation	SNP	ENST00000374298.3	37	CCDS266.1	.	.	.	.	.	.	.	.	.	.	C	7.126	0.578980	0.13686	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.48836	0.8;0.8	5.16	-1.92	0.07618	.	0.783640	0.11442	N	0.563652	T	0.18718	0.0449	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.27536	-1.0071	10	0.07482	T	0.82	-0.0018	4.4776	0.11752	0.1707:0.3028:0.0:0.5265	.	178	Q9H7T9	CA135_HUMAN	N	178	ENSP00000443647:D178N;ENSP00000363416:D178N	ENSP00000363416:D178N	D	-	1	0	C1orf135	26034613	0.000000	0.05858	0.004000	0.12327	0.825000	0.46686	-0.003000	0.12901	-0.191000	0.10448	0.460000	0.39030	GAC		0.443	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		T	26162026	C	T	26162026	3	4	606	1	0	0	0	0	1	0	0	0	2001	855	30	2	545	2	C1orf135	1	26162026	Missense_Mutation	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	8552633	26162026	223088595	3	33208											
CSMD2	114784	broad.mit.edu;hgsc.bcm.edu	37	1	34180251	34180251	+	Silent	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:34180251G>A	ENST00000373381.4	-	21	3518	c.3342C>T	c.(3340-3342)acC>acT	p.T1114T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1074	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1074T(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGATGCGGGCGGTGCCCTCCA	0.627																																																1	Substitution - coding silent(1)	kidney(1)											96	107	103					1																	34180251		2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3342C>T	1.37:g.34180251G>A			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																					0.627	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		A	34180251	G	A	34180251	2	1	606	1	0	0	0	0	0	0	0	1	3947	1103	39	1		1	CSMD2	1	34180251	Silent	SNP	G	TCGA-CZ-5986-01A-11D-1669-08	8018225	34180251	215070370	4	33209											
LRRIQ3	127255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	74507410	74507410	+	Missense_Mutation	SNP	C	C	T	rs199619382		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:74507410C>T	ENST00000395089.1	-	6	1204	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R402Q			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	402								p.R402Q(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTCATACTCCGCTCCAATCG	0.353																																																2	Substitution - Missense(2)	kidney(1)|endometrium(1)						C	GLN/ARG	0,3676		0,0,1838	110	100	103		1205	-9.2	0	1		103	1,8175		0,1,4087	yes	missense	LRRIQ3	NM_001105659.1	43	0,1,5925	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging	402/625	74507410	1,11851	1838	4088	5926	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1205G>A	1.37:g.74507410C>T	ENSP00000378524:p.Arg402Gln		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458187	0.43634	0.0	1.22E-4	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.11604	2.76;2.76	5.77	-9.19	0.00685	.	1.286310	0.05602	N	0.576532	T	0.01387	0.0045	N	0.19112	0.55	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.40156	-0.9578	10	0.48119	T	0.1	.	3.6791	0.08304	0.1039:0.1638:0.1788:0.5535	.	402	A6PVS8	LRIQ3_HUMAN	Q	402	ENSP00000378524:R402Q;ENSP00000346414:R402Q	ENSP00000346414:R402Q	R	-	2	0	LRRIQ3	74279998	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.826000	0.04429	-2.170000	0.00776	-0.237000	0.12165	CGG		0.353	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		T	74507410	C	T	74507410	3	4	606	1	0	0	0	0	1	0	0	0	9032	652	23	1	677	1	LRRIQ3	1	74507410	Missense_Mutation	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	40327159	74507410	174743211	5	33210											
NFASC	23114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204971726	204971726	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr1:204971726A>T	ENST00000401399.1	+	26	3338	c.3139A>T	c.(3139-3141)Aac>Tac	p.N1047Y	NFASC_ENST00000367172.4_Missense_Mutation_p.N1154Y|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338586.6_Missense_Mutation_p.N1031Y|NFASC_ENST00000339876.6_Missense_Mutation_p.N1047Y|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.N1075Y|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.N1139Y|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin	1154	Thr-rich.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.N1047Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTCCCCAGGCAACCATACGAA	0.537																																																1	Substitution - Missense(1)	kidney(1)											58	53	55					1																	204971726		1567	3582	5149	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3139A>T	1.37:g.204971726A>T	ENSP00000385637:p.Asn1047Tyr		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.75|14.75	2.629131|2.629131	0.46944|0.46944	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000338586;ENST00000401399|ENST00000413225	T;T;T;T;T;T|.	0.65178|.	1.43;1.43;1.43;1.43;-0.14;1.43|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.56097|.	D|.	0.000022|.	T|T	0.69196|0.69196	0.3084|0.3084	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	B;D|.	0.64830|.	0.04;0.994|.	B;P|.	0.60682|.	0.071;0.878|.	T|T	0.67325|0.67325	-0.5699|-0.5699	10|5	0.42905|.	T|.	0.14|.	.|.	15.5314|15.5314	0.75964|0.75964	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1031;1047|.	F8W8X7;O94856-9|.	.;.|.	Y|L	1154;1139;1075;1047;1031;1047|93	ENSP00000356140:N1154Y;ENSP00000356139:N1139Y;ENSP00000356138:N1075Y;ENSP00000344786:N1047Y;ENSP00000343509:N1031Y;ENSP00000385637:N1047Y|.	ENSP00000343509:N1031Y|.	N|Q	+|+	1|2	0|0	NFASC|NFASC	203238349|203238349	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.584000|4.584000	0.60971|0.60971	2.145000|2.145000	0.66743|0.66743	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.537	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		T	204971726	A	T	204971726	3	4	606	1	0	0	0	0	1	0	0	0	10361	130	5	5	3650	5	NFASC	1	204971726	Missense_Mutation	SNP	A	TCGA-CZ-5986-01A-11D-1669-08	130464316	204971726	44278895	6	33211											
RAD51AP2	729475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	17696802	17696802	+	Missense_Mutation	SNP	C	C	G	rs140673266	byFrequency	TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr2:17696802C>G	ENST00000399080.2	-	1	2904	c.2881G>C	c.(2881-2883)Gat>Cat	p.D961H		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	961								p.D961H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCTCAAAATCTTTTACTATT	0.323																																																1	Substitution - Missense(1)	kidney(1)											36	35	35					2																	17696802		1799	4073	5872	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2881G>C	2.37:g.17696802C>G	ENSP00000382030:p.Asp961His			Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364606	0.24684	.	.	ENSG00000214842	ENST00000399080	T	0.33865	1.39	5.17	3.38	0.38709	.	.	.	.	.	T	0.37945	0.1022	N	0.14661	0.345	0.23645	N	0.997219	D	0.76494	0.999	D	0.66979	0.948	T	0.15321	-1.0441	9	0.41790	T	0.15	-1.3225	9.0995	0.36660	0.0:0.7909:0.0:0.2091	.	961	Q09MP3	R51A2_HUMAN	H	961	ENSP00000382030:D961H	ENSP00000382030:D961H	D	-	1	0	RAD51AP2	17560283	0.389000	0.25205	0.732000	0.30844	0.945000	0.59286	0.765000	0.26546	0.705000	0.31890	0.655000	0.94253	GAT		0.323	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		G	17696802	C	G	17696802	3	3	606	1	0	0	0	0	1	0	0	0	12993	913	32	4	610	4	RAD51AP2	2	17696802	Missense_Mutation	SNP	C	TCGA-CZ-5986-01A-11D-1669-08		17696802	225502571	7	33212											
YIPF4	84272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32526479	32526479	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr2:32526479T>C	ENST00000238831.4	+	5	758	c.512T>C	c.(511-513)aTa>aCa	p.I171T		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	171						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.I171T(1)		kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTTGGAGTTATAGGATATTCA	0.318																																																1	Substitution - Missense(1)	kidney(1)											165	152	156					2																	32526479		2203	4299	6502	SO:0001583	missense	84272			AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"Yip1 domain family"	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.512T>C	2.37:g.32526479T>C	ENSP00000238831:p.Ile171Thr			Missense_Mutation	SNP	ENST00000238831.4	37	CCDS1781.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.126714	0.77549	.	.	ENSG00000119820	ENST00000238831	T	0.40225	1.04	5.88	5.88	0.94601	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	M	0.84326	2.69	0.58432	D	0.999998	P	0.37914	0.611	B	0.32342	0.144	T	0.56141	-0.8028	10	0.87932	D	0	.	14.0289	0.64604	0.0:0.0:0.0:1.0	.	171	Q9BSR8	YIPF4_HUMAN	T	171	ENSP00000238831:I171T	ENSP00000238831:I171T	I	+	2	0	YIPF4	32379983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.800000	0.75165	2.242000	0.73789	0.533000	0.62120	ATA		0.318	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250250.3	NM_032312		C	32526479	T	C	32526479	3	2	606	1	0	0	0	0	1	0	0	0	17485	1406	49	3	530	3	YIPF4	2	32526479	Missense_Mutation	SNP	T	TCGA-CZ-5986-01A-11D-1669-08	14829677	32526479	210672894	8	33213											
TTLL4	9654	broad.mit.edu;ucsc.edu	37	2	219609908	219609908	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr2:219609908T>A	ENST00000392102.1	+	6	2078	c.1738T>A	c.(1738-1740)Ttt>Att	p.F580I	TTLL4_ENST00000258398.4_Missense_Mutation_p.F580I|TTLL4_ENST00000442769.1_Missense_Mutation_p.F580I|TTLL4_ENST00000457313.1_Missense_Mutation_p.F415I	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	580					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.F580I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTACAGTCTCTTTCCCAACGT	0.498																																					GBM(172;1818 2053 15407 20943 49753)											1	Substitution - Missense(1)	kidney(1)											191	186	187					2																	219609908		2203	4300	6503	SO:0001583	missense	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1738T>A	2.37:g.219609908T>A	ENSP00000375951:p.Phe580Ile		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	T	31	5.069628	0.93950	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.19938	3.11;3.32;2.11;3.32	5.3	5.3	0.74995	.	0.194441	0.34200	N	0.004164	T	0.49133	0.1539	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.971;0.994;0.997	T	0.54443	-0.8293	10	0.87932	D	0	.	14.586	0.68326	0.0:0.0:0.0:1.0	.	415;580;580	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	I	415;580;580;580	ENSP00000393332:F415I;ENSP00000375951:F580I;ENSP00000396555:F580I;ENSP00000258398:F580I	ENSP00000258398:F580I	F	+	1	0	TTLL4	219318152	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.338000	0.72963	2.226000	0.72624	0.533000	0.62120	TTT		0.498	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		A	219609908	T	A	219609908	3	1	606	1	0	0	0	0	1	0	0	0	16734	1609	56	5	1752	5	TTLL4	2	219609908	Missense_Mutation	SNP	T	TCGA-CZ-5986-01A-11D-1669-08	187083429	219609908	23589465	9	33214											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188319	10188344	+	Splice_Site	DEL	AGGTACTGACGTTTTACTTTTTAAAA	AGGTACTGACGTTTTACTTTTTAAAA	-	rs5030814|rs397516443|rs5030834|rs143844761	byFrequency	TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	AGGTACTGACGTTTTACTTTTTAAAA	AGGTACTGACGTTTTACTTTTTAAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr3:10188319_10188344delAGGTACTGACGTTTTACTTTTTAAAA	ENST00000256474.2	+	2	1302_1303	c.462_463delAGGTACTGACGTTTTACTTTTTAAAA	c.(460-465)ccaggt>ccgt	p.G155fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	155	Involved in binding to CCT complex.		V -> G (in VHLD; type II). {ECO:0000269|Ref.41}.|V -> M (in VHLD; with RCC).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(29)|p.V155L(6)|p.V155fs*4(4)|p.V155M(3)|p.P154P(1)|p.?fs(1)|p.L153fs*4(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTT	0.398		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	45	Unknown(29)|Substitution - Missense(9)|Deletion - Frameshift(5)|Substitution - coding silent(1)|Insertion - Frameshift(1)	kidney(43)|adrenal_gland(1)|endometrium(1)	GRCh37	CD951877|CM023999|CS003080|CS004297|CS011850|CS066318|CS951541|CS961707|CS961708	VHL	D|M|S	rs5030814|rs5030815|rs5030834																																			SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.463+1AGGTACTGACGTTTTACTTTTTAAAA>-	3.37:g.10188319_10188344delAGGTACTGACGTTTTACTTTTTAAAA			B2RE45|Q13599|Q6PDA9	In_Frame_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.398	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Frame_Shift_Del	-	10188344	AGGTACTGACGTTTTACTTTTTAAAA	-	10188319	8	5	606	1	0	1	0	1	0	0	1	0	17167	202	7	0	468	0	VHL	3	10188319	Splice_Site	DEL	AGGTACTGACGTTTTACTTTTTAAAA	TCGA-CZ-5986-01A-11D-1669-08		10188319	187834111	10	33215											
SLC22A13	9390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38307442	38307442	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr3:38307442C>A	ENST00000311856.4	+	1	140	c.91C>A	c.(91-93)Ctg>Atg	p.L31M	SLC22A13_ENST00000450935.2_5'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	31					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.L31M(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCTCAACTTCCTGTCTCCCTT	0.498																																																1	Substitution - Missense(1)	kidney(1)											223	185	198					3																	38307442		2203	4300	6503	SO:0001583	missense	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.91C>A	3.37:g.38307442C>A	ENSP00000310241:p.Leu31Met		B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	.	9.735	1.163195	0.21538	.	.	ENSG00000172940	ENST00000311856	T	0.67171	-0.25	4.71	2.76	0.32466	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.130904	0.52532	D	0.000072	T	0.74512	0.3726	M	0.74389	2.26	0.28824	N	0.897531	D;D	0.58620	0.983;0.97	P;P	0.61201	0.885;0.77	T	0.66272	-0.5965	10	0.34782	T	0.22	.	8.0609	0.30633	0.2489:0.6702:0.0:0.081	.	31;31	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	M	31	ENSP00000310241:L31M	ENSP00000310241:L31M	L	+	1	2	SLC22A13	38282446	0.001000	0.12720	0.315000	0.25238	0.064000	0.16182	0.596000	0.24044	1.125000	0.41998	0.563000	0.77884	CTG		0.498	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		A	38307442	C	A	38307442	3	1	606	1	0	0	0	0	1	0	0	0	14450	680	24	4	93	4	SLC22A13	3	38307442	Missense_Mutation	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	28119123	38307442	159714988	11	33216											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52692236	52692236	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr3:52692236delA	ENST00000296302.7	-	5	625	c.624delT	c.(622-624)tttfs	p.F208fs	PBRM1_ENST00000409114.3_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.F208fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.F208fs			Q86U86	PB1_HUMAN	polybromo 1	208	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCAGTTTCTGAAAAAGTTCGC	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													92	91	92					3																	52692236		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.624delT	3.37:g.52692236delA	ENSP00000296302:p.Phe208fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52692236	A	-	52692236	7	5	606	1	0	1	0	1	0	0	0	0	11493	243	9	0	4380	0	PBRM1	3	52692236	Frame_Shift_Del	DEL	A	TCGA-CZ-5986-01A-11D-1669-08	14384794	52692236	145330194	12	33217											
MUC20	200958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	195453061	195453061	+	Silent	SNP	C	C	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr3:195453061C>A	ENST00000447234.2	+	2	1713	c.1587C>A	c.(1585-1587)ccC>ccA	p.P529P	MUC20_ENST00000445522.2_Silent_p.P494P|MUC20_ENST00000320736.6_Silent_p.P358P|MUC20_ENST00000436408.1_Silent_p.P529P	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	529	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)		p.P529P(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GCAGGAATCCCCTTGAAGAAA	0.567																																																1	Substitution - coding silent(1)	kidney(1)											58	57	57					3																	195453061		2060	4194	6254	SO:0001819	synonymous_variant	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1587C>A	3.37:g.195453061C>A			Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	ENST00000447234.2	37																																																																																					0.567	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		A	195453061	C	A	195453061	2	1	606	1	0	0	0	0	0	0	0	1	9978	610	22	4		4	MUC20	3	195453061	Silent	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	142760825	195453061	2569369	13	33218											
WHSC1	7468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1980470	1980470	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr4:1980470C>T	ENST00000382895.3	+	24	4363	c.3932C>T	c.(3931-3933)aCa>aTa	p.T1311I	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.T1311I|WHSC1_ENST00000382892.2_Missense_Mutation_p.T1311I|WHSC1_ENST00000382888.3_Missense_Mutation_p.T659I|WHSC1_ENST00000382891.5_Missense_Mutation_p.T1311I	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1311					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T1311I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CAGGACGGGACAGCCTTCAGC	0.582			T	IGH@	MM																																		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	1	Substitution - Missense(1)	kidney(1)											75	72	73					4																	1980470		2203	4300	6503	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3932C>T	4.37:g.1980470C>T	ENSP00000372351:p.Thr1311Ile		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745541	0.49151	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	4.95	4.95	0.65309	.	0.343906	0.24717	N	0.036175	T	0.61073	0.2318	N	0.20685	0.6	0.80722	D	1	B;B	0.32245	0.04;0.361	B;B	0.24155	0.045;0.051	T	0.61836	-0.6981	10	0.37606	T	0.19	.	11.7889	0.52057	0.0:0.9199:0.0:0.0801	.	659;1311	A2A2T2;O96028	.;NSD2_HUMAN	I	1311;1311;1311;1311;659	ENSP00000423972:T1311I;ENSP00000372347:T1311I;ENSP00000372348:T1311I;ENSP00000372351:T1311I;ENSP00000372344:T659I	ENSP00000372344:T659I	T	+	2	0	WHSC1	1950268	0.003000	0.15002	0.009000	0.14445	0.924000	0.55760	0.412000	0.21131	2.570000	0.86706	0.655000	0.94253	ACA		0.582	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		T	1980470	C	T	1980470	3	4	606	1	0	0	0	0	1	0	0	0	17367	478	17	2	4090	2	WHSC1	4	1980470	Missense_Mutation	SNP	C	TCGA-CZ-5986-01A-11D-1669-08		1980470	189173806	14	33219											
HERC3	8916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	89577067	89577067	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr4:89577067A>G	ENST00000402738.1	+	9	1189	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	HERC3_ENST00000543130.1_5'Flank|HERC3_ENST00000407637.1_Missense_Mutation_p.Y317C|HERC3_ENST00000264345.3_Missense_Mutation_p.Y317C	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	317					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Y317C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GGACTCATCTATGCATTTGGT	0.448																																																1	Substitution - Missense(1)	kidney(1)											226	205	212					4																	89577067		2203	4300	6503	SO:0001583	missense	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.950A>G	4.37:g.89577067A>G	ENSP00000385684:p.Tyr317Cys		A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301464	0.81136	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	D;D;D	0.91180	-2.8;-2.8;-2.8	4.9	4.9	0.64082	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.96109	0.8732	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.91635	0.943;0.999	D	0.97031	0.9750	10	0.87932	D	0	.	14.7158	0.69269	1.0:0.0:0.0:0.0	.	317;317	Q15034;Q8IXX3	HERC3_HUMAN;.	C	317	ENSP00000385684:Y317C;ENSP00000384005:Y317C;ENSP00000264345:Y317C	ENSP00000264345:Y317C	Y	+	2	0	HERC3	89796090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.963000	0.93385	2.061000	0.61500	0.533000	0.62120	TAT		0.448	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		G	89577067	A	G	89577067	3	3	606	1	0	0	0	0	1	0	0	0	7061	449	16	3	976	3	HERC3	4	89577067	Missense_Mutation	SNP	A	TCGA-CZ-5986-01A-11D-1669-08	87596597	89577067	101577209	15	33220											
SLC10A7	84068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	147438224	147438224	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr4:147438224A>G	ENST00000507030.1	-	2	148	c.149T>C	c.(148-150)aTa>aCa	p.I50T	SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000335472.7_Missense_Mutation_p.I50T|SLC10A7_ENST00000502607.1_Missense_Mutation_p.I50T|SLC10A7_ENST00000264986.3_Missense_Mutation_p.I50T|SLC10A7_ENST00000432059.2_Missense_Mutation_p.I50T|SLC10A7_ENST00000394059.4_Missense_Mutation_p.I50T|SLC10A7_ENST00000511374.1_Missense_Mutation_p.I50T|SLC10A7_ENST00000394062.3_Missense_Mutation_p.I50T			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	50					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.I50T(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTTAAAGAATATTGTTGCAAC	0.318																																																2	Substitution - Missense(2)	kidney(2)											221	233	229					4																	147438224		2203	4300	6503	SO:0001583	missense	84068			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"Solute carriers"	23088	protein-coding gene	gene with protein product		611459	"chromosome 4 open reading frame 13"	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.149T>C	4.37:g.147438224A>G	ENSP00000421275:p.Ile50Thr		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.317296	0.81469	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000264986;ENST00000507030;ENST00000394062;ENST00000394059;ENST00000511374;ENST00000502607	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.83986	0.5373	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.989;0.974;0.996;0.999	D	0.87113	0.2186	9	0.87932	D	0	-22.4516	15.5607	0.76244	1.0:0.0:0.0:0.0	.	50;50;50;50	Q0GE19-3;Q0GE19;Q0GE19-5;Q0GE19-2	.;NTCP7_HUMAN;.;.	T	50	.	ENSP00000264986:I50T	I	-	2	0	SLC10A7	147657674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.149000	0.89632	2.087000	0.62958	0.482000	0.46254	ATA		0.318	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		G	147438224	A	G	147438224	3	3	606	1	0	0	0	0	1	0	0	0	14385	449	16	3	962	3	SLC10A7	4	147438224	Missense_Mutation	SNP	A	TCGA-CZ-5986-01A-11D-1669-08	57861157	147438224	43716052	16	33221											
FAM169A	26049	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	74097435	74097436	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr5:74097435_74097436GC>AT	ENST00000389156.4	-	9	1021_1022	c.931_932GC>AT	c.(931-933)GCc>ATc	p.A311I	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.A251I	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	311						membrane (GO:0016020)|nucleus (GO:0005634)		p.A311I(1)|p.A311V(1)|p.A311T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GCTTGCAAAGGCATCTTTTAGA	0.347																																																3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	26049				CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.931_932delinsAT	5.37:g.74097435_74097436delinsAT	ENSP00000373808:p.Ala311Ile		A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	CCDS43330.1																																																																																				0.347	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			AT	74097436	GC	AT	74097435	3	1	606	1	0	0	0	0	1	0	0	0	5489	1203	42	2	1100	2	FAM169A	5	74097435	Missense_Mutation	DNP	GC	TCGA-CZ-5986-01A-11D-1669-08		74097435	106817825	17	33222											
ANKRD32	84250	hgsc.bcm.edu;ucsc.edu	37	5	94030788	94030789	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr5:94030788_94030789insA	ENST00000265140.5	+	21	3367_3368	c.2948_2949insA	c.(2947-2952)ttaactfs	p.T984fs	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	984						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TCCAAAGGGTTAACTCATCTAA	0.332																																																0																																										SO:0001589	frameshift_variant	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2950dupA	5.37:g.94030790_94030790dupA	ENSP00000265140:p.Thr984fs		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Frame_Shift_Ins	INS	ENST00000265140.5	37	CCDS4071.2																																																																																				0.332	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		A	94030789	-	A	94030788	7	5	606	1	0	1	1	0	0	0	0	0	660	1764	61	0	3026	0	ANKRD32	5	94030788	Frame_Shift_Ins	INS	-	TCGA-CZ-5986-01A-11D-1669-08	19933353	94030788	86884472	18	33223											
PDLIM4	8572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	131606692	131606692	+	Missense_Mutation	SNP	G	G	C	rs141857035		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr5:131606692G>C	ENST00000253754.3	+	4	476	c.412G>C	c.(412-414)Gga>Cga	p.G138R	PDLIM4_ENST00000379018.3_Missense_Mutation_p.G138R|P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000484620.1_3'UTR	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	138							zinc ion binding (GO:0008270)	p.G138R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTCCATATGGACAACCCCC	0.632																																																1	Substitution - Missense(1)	kidney(1)											154	155	155					5																	131606692		2203	4300	6503	SO:0001583	missense	8572			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.412G>C	5.37:g.131606692G>C	ENSP00000253754:p.Gly138Arg		B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	37	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713475	0.48517	.	.	ENSG00000131435	ENST00000253754;ENST00000379018;ENST00000418373	T;T;T	0.30981	2.78;2.09;1.51	4.94	4.94	0.65067	.	0.305454	0.35235	N	0.003346	T	0.47637	0.1456	L	0.51422	1.61	0.38742	D	0.953902	D;D;P	0.89917	0.988;1.0;0.868	P;D;B	0.97110	0.694;1.0;0.383	T	0.50363	-0.8837	10	0.72032	D	0.01	-24.3211	11.3755	0.49726	0.0:0.1828:0.8172:0.0	.	138;79;138	P50479-2;C9J542;P50479	.;.;PDLI4_HUMAN	R	138;138;79	ENSP00000253754:G138R;ENSP00000368303:G138R;ENSP00000411753:G79R	ENSP00000253754:G138R	G	+	1	0	PDLIM4	131634591	0.947000	0.32204	0.995000	0.50966	0.940000	0.58332	1.635000	0.37134	2.575000	0.86900	0.455000	0.32223	GGA		0.632	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		C	131606692	G	C	131606692	3	2	606	1	0	0	0	0	1	0	0	0	11684	1349	47	4	426	4	PDLIM4	5	131606692	Missense_Mutation	SNP	G	TCGA-CZ-5986-01A-11D-1669-08	37575904	131606692	49308568	19	33224											
PCDHGA1	56114	broad.mit.edu;hgsc.bcm.edu	37	5	140712348	140712348	+	Silent	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr5:140712348G>A	ENST00000517417.1	+	1	2097	c.2097G>A	c.(2095-2097)gcG>gcA	p.A699A	PCDHGA1_ENST00000378105.3_Silent_p.A699A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	699					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A699A(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGGCCGCGGTCTCCTGCG	0.662																																																2	Substitution - coding silent(2)	kidney(2)											66	77	74					5																	140712348		2203	4298	6501	SO:0001819	synonymous_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2097G>A	5.37:g.140712348G>A			Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				0.662	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		A	140712348	G	A	140712348	2	1	606	1	0	0	0	0	0	0	0	1	11552	1103	39	1		1	PCDHGA1	5	140712348	Silent	SNP	G	TCGA-CZ-5986-01A-11D-1669-08	9105656	140712348	40202912	20	33225											
ANKRD7	56311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117864901	117864901	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr7:117864901G>A	ENST00000265224.4	+	1	172	c.17G>A	c.(16-18)aGc>aAc	p.S6N	ANKRD7_ENST00000417525.1_5'UTR|ANKRD7_ENST00000433239.1_5'Flank|ANKRD7_ENST00000477532.1_Intron|ANKRD7_ENST00000357099.4_Missense_Mutation_p.S6N	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	6					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.S6N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AAGCTTTTCAGCTTCTGGAAG	0.532																																																1	Substitution - Missense(1)	kidney(1)											69	72	71					7																	117864901		1899	4124	6023	SO:0001583	missense	56311			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"Ankyrin repeat domain containing"	18588	protein-coding gene	gene with protein product	"testis-specific ankyrin motif containing protein"	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.17G>A	7.37:g.117864901G>A	ENSP00000265224:p.Ser6Asn		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	G	6.578	0.474898	0.12521	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000486422	T;T;T	0.39406	1.08;1.2;1.98	3.64	-2.83	0.05769	.	.	.	.	.	T	0.18425	0.0442	N	0.16368	0.405	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.22347	-1.0219	9	0.16896	T	0.51	5.7488	1.8419	0.03151	0.2899:0.3144:0.2846:0.1111	.	6	Q92527	ANKR7_HUMAN	N	6	ENSP00000349612:S6N;ENSP00000265224:S6N;ENSP00000417353:S6N	ENSP00000265224:S6N	S	+	2	0	ANKRD7	117652137	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.100000	0.10990	-0.652000	0.05408	-0.284000	0.09977	AGC		0.532	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		A	117864901	G	A	117864901	3	1	606	1	0	0	0	0	1	0	0	0	686	971	34	2	19	2	ANKRD7	7	117864901	Missense_Mutation	SNP	G	TCGA-CZ-5986-01A-11D-1669-08		117864901	41273762	21	33226											
WDR91	29062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134891906	134891906	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr7:134891906T>A	ENST00000354475.4	-	4	591	c.560A>T	c.(559-561)cAg>cTg	p.Q187L	WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000423565.1_Missense_Mutation_p.Q152L|WDR91_ENST00000344400.5_Missense_Mutation_p.Q187L	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	187								p.Q187L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTCTTGAACCTGGTTAGTCCT	0.448																																																1	Substitution - Missense(1)	kidney(1)											116	101	106					7																	134891906		2203	4300	6503	SO:0001583	missense	29062			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.560A>T	7.37:g.134891906T>A	ENSP00000346466:p.Gln187Leu		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423842	0.25639	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91237	-2.81;-2.81;-2.81	5.87	4.65	0.58169	.	0.519401	0.22913	N	0.054110	T	0.76608	0.4011	N	0.08118	0	0.24512	N	0.994206	B	0.02656	0.0	B	0.01281	0.0	T	0.60449	-0.7261	10	0.22706	T	0.39	-16.3206	5.0786	0.14644	0.2483:0.0826:0.0:0.6691	.	187	A4D1P6	WDR91_HUMAN	L	187;187;152	ENSP00000340877:Q187L;ENSP00000346466:Q187L;ENSP00000392555:Q152L	ENSP00000340877:Q187L	Q	-	2	0	WDR91	134542446	0.997000	0.39634	1.000000	0.80357	0.880000	0.50808	2.261000	0.43276	2.251000	0.74343	0.529000	0.55759	CAG		0.448	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		A	134891906	T	A	134891906	3	1	606	1	0	0	0	0	1	0	0	0	17343	1580	55	5	1731	5	WDR91	7	134891906	Missense_Mutation	SNP	T	TCGA-CZ-5986-01A-11D-1669-08	17027005	134891906	24246757	22	33227											
ADCK2	90956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	140373652	140373652	+	Silent	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr7:140373652G>A	ENST00000072869.4	+	1	700	c.522G>A	c.(520-522)gtG>gtA	p.V174V	ADCK2_ENST00000476491.1_Silent_p.V174V	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	174						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V174V(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					ATGTCCGAGTGACGCCCCACC	0.597																																																1	Substitution - coding silent(1)	kidney(1)											45	50	49					7																	140373652		2203	4298	6501	SO:0001819	synonymous_variant	90956			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.522G>A	7.37:g.140373652G>A			Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	G	2.990	-0.208459	0.06140	.	.	ENSG00000133597	ENST00000483369	.	.	.	4.63	3.68	0.42216	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55296	-0.8163	4	.	.	.	-11.7144	8.7687	0.34719	0.0835:0.1531:0.7633:0.0	.	.	.	.	N	12	.	.	D	+	1	0	ADCK2	140020121	0.656000	0.27385	0.223000	0.23860	0.109000	0.19521	0.883000	0.28200	2.136000	0.66102	0.561000	0.74099	GAC		0.597	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		A	140373652	G	A	140373652	2	1	606	1	0	0	0	0	0	0	0	1	289	1277	45	2		2	ADCK2	7	140373652	Silent	SNP	G	TCGA-CZ-5986-01A-11D-1669-08	5481746	140373652	18765011	23	33228											
MLL3	58508	hgsc.bcm.edu;ucsc.edu	37	7	151836874	151836875	+	Splice_Site	DEL	CC	CC	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	CC	CC	CC	-	CC	CC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr7:151836874_151836875delCC	ENST00000262189.6	-	56	14563_14564	c.14345_14346delGG	c.(14344-14346)ggg>g	p.G4782fs	KMT2C_ENST00000355193.2_Splice_Site_p.G4839fs|KMT2C_ENST00000485655.2_5'UTR	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4782	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACAGGCCCAGCCCCTAAAAAAA	0.416																																																0																																										SO:0001630	splice_region_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14344-1GG>-	7.37:g.151836876_151836877delCC			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	CCDS5931.1																																																																																				0.416	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Frame_Shift_Del	-	151836875	CC	-	151836874	8	5	606	1	0	1	0	1	0	0	1	0	9624	726	26	0	405	0	MLL3	7	151836874	Splice_Site	DEL	CC	TCGA-CZ-5986-01A-11D-1669-08	11463222	151836874	7301789	24	33229											
NECAB1	64168	broad.mit.edu;hgsc.bcm.edu	37	8	91962067	91962067	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr8:91962067G>A	ENST00000417640.2	+	11	1230	c.893G>A	c.(892-894)cGc>cAc	p.R298H	NECAB1_ENST00000521366.1_Missense_Mutation_p.R47H|NECAB1_ENST00000522820.1_Missense_Mutation_p.R47H	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	298	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R298H(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			AATGAATCTCGCTACATGATC	0.348																																																1	Substitution - Missense(1)	kidney(1)											151	134	139					8																	91962067		1838	4095	5933	SO:0001583	missense	64168			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.893G>A	8.37:g.91962067G>A	ENSP00000387380:p.Arg298His		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	ENST00000417640.2	37	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.248749	0.59103	.	.	ENSG00000123119	ENST00000417640;ENST00000522820;ENST00000521366	T;T;T	0.32515	1.45;1.45;1.45	5.72	4.85	0.62838	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	L	0.41236	1.265	0.58432	D	0.999999	B	0.15473	0.013	B	0.10450	0.005	T	0.04870	-1.0921	10	0.56958	D	0.05	-16.6422	10.5972	0.45345	0.1551:0.0:0.8449:0.0	.	298	Q8N987	NECA1_HUMAN	H	298;47;47	ENSP00000387380:R298H;ENSP00000428953:R47H;ENSP00000428632:R47H	ENSP00000387380:R298H	R	+	2	0	NECAB1	92031243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.421000	0.52742	1.436000	0.47453	0.655000	0.94253	CGC		0.348	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		A	91962067	G	A	91962067	3	1	606	1	0	0	0	0	1	0	0	0	10306	1087	38	1	935	1	NECAB1	8	91962067	Missense_Mutation	SNP	G	TCGA-CZ-5986-01A-11D-1669-08		91962067	54401955	25	33230											
TLN1	7094	broad.mit.edu	37	9	35718904	35718904	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr9:35718904G>T	ENST00000314888.9	-	17	2253	c.1900C>A	c.(1900-1902)Cgt>Agt	p.R634S	TLN1_ENST00000540444.1_Missense_Mutation_p.R634S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	634					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.R634S(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTTCTGACGGGGCTGTGGA	0.597																																																1	Substitution - Missense(1)	kidney(1)											37	30	32					9																	35718904		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1900C>A	9.37:g.35718904G>T	ENSP00000316029:p.Arg634Ser		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908254	0.92107	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70399	-0.46;-0.48	6.11	6.11	0.99139	Talin, central (3);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86104	0.1558	10	0.72032	D	0.01	-9.0498	20.7342	0.99715	0.0:0.0:1.0:0.0	.	634	Q9Y490	TLN1_HUMAN	S	634	ENSP00000316029:R634S;ENSP00000442981:R634S	ENSP00000316029:R634S	R	-	1	0	TLN1	35708904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.903000	0.87398	2.906000	0.99361	0.655000	0.94253	CGT		0.597	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		T	35718904	G	T	35718904	3	4	606	1	0	0	0	0	1	0	0	0	15952	1116	39	4	5889	4	TLN1	9	35718904	Missense_Mutation	SNP	G	TCGA-CZ-5986-01A-11D-1669-08		35718904	105494527	26	33231											
GOLGA2	2801	hgsc.bcm.edu;ucsc.edu	37	9	131019384	131019384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr9:131019384delC	ENST00000421699.2	-	26	2983	c.2971delG	c.(2971-2973)gctfs	p.A991fs	GOLGA2_ENST00000609374.1_Frame_Shift_Del_p.A979fs|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	991					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TTCTCGTCAGCCCGGTAAAAA	0.562																																																0													97	108	104					9																	131019384		2203	4300	6503	SO:0001589	frameshift_variant	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2971delG	9.37:g.131019384delC	ENSP00000416097:p.Ala991fs		Q6GRM9|Q9BRB0|Q9NYF9	Frame_Shift_Del	DEL	ENST00000421699.2	37	CCDS6896.2																																																																																				0.562	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		-	131019384	C	-	131019384	7	5	606	1	0	1	0	1	0	0	0	0	6554	739	26	0	41	0	GOLGA2	9	131019384	Frame_Shift_Del	DEL	C	TCGA-CZ-5986-01A-11D-1669-08	95300480	131019384	10194047	27	33232											
PKD2L1	9033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102089625	102089625	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr10:102089625C>T	ENST00000318222.3	-	1	618		c.e1+1		PKD2L1_ENST00000353274.3_Splice_Site|PKD2L1_ENST00000338519.3_Splice_Site	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.?(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTATCTGGTACCTCTGATGCC	0.547																																																1	Unknown(1)	kidney(1)											70	72	71					10																	102089625		2203	4300	6503	SO:0001630	splice_region_variant	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.235+1G>A	10.37:g.102089625C>T			O75972|Q5W039|Q9UP35|Q9UPA2	Splice_Site	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111685	0.20714	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000465680;ENST00000318222;ENST00000339977	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1288	0.81412	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKD2L1	102079615	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	4.386000	0.59620	2.473000	0.83533	0.650000	0.86243	.		0.547	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	Intron	T	102089625	C	T	102089625	5	4	606	1	0	0	0	0	0	0	1	0	11969	521	18	2	2245	2	PKD2L1	10	102089625	Splice_Site	SNP	C	TCGA-CZ-5986-01A-11D-1669-08		102089625	33445122	28	33233											
TRIM6	117854	hgsc.bcm.edu;ucsc.edu	37	11	5624941	5624943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:5624941_5624943delGGA	ENST00000278302.5	+	2	539_541	c.399_401delGGA	c.(397-402)gtggag>gtg	p.E135del	TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000445329.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_In_Frame_Del_p.E109del|TRIM6_ENST00000380097.3_In_Frame_Del_p.E163del|TRIM6-TRIM34_ENST00000354852.5_In_Frame_Del_p.E163del|HBG2_ENST00000380259.2_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	135					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGTTCCTCGTGGAGGAGGTTGCC	0.522																																																0																																										SO:0001651	inframe_deletion	117854			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.399_401delGGA	11.37:g.5624944_5624946delGGA	ENSP00000278302:p.Glu135del		A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	In_Frame_Del	DEL	ENST00000278302.5	37	CCDS31390.1																																																																																				0.522	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		-	5624943	GGA	-	5624941	7	5	606	1	0	1	0	1	0	0	0	0	16538	1335	47	0	489	0	TRIM6	11	5624941	In_Frame_Del	DEL	GGA	TCGA-CZ-5986-01A-11D-1669-08		5624941	129381575	29	33234											
CTR9	9646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	10785039	10785039	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:10785039T>A	ENST00000361367.2	+	8	1337	c.911T>A	c.(910-912)aTg>aAg	p.M304K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	304					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.M304K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTGGAAGCTATGCAAGCAGAG	0.358																																																1	Substitution - Missense(1)	kidney(1)											110	104	106					11																	10785039		2201	4294	6495	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.911T>A	11.37:g.10785039T>A	ENSP00000355013:p.Met304Lys		D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.707576	0.68615	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T	0.50001	0.76	5.95	5.95	0.96441	Tetratricopeptide repeat-containing (1);	0.072080	0.85682	D	0.000000	T	0.59224	0.2178	H	0.94345	3.525	0.80722	D	1	B	0.33022	0.394	B	0.33042	0.157	T	0.64837	-0.6313	10	0.09338	T	0.73	-22.4394	16.4116	0.83717	0.0:0.0:0.0:1.0	.	304	Q6PD62	CTR9_HUMAN	K	304;255	ENSP00000355013:M304K	ENSP00000355013:M304K	M	+	2	0	CTR9	10741615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.587000	0.82613	2.276000	0.75962	0.528000	0.53228	ATG		0.358	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		A	10785039	T	A	10785039	3	1	606	1	0	0	0	0	1	0	0	0	4026	1464	51	5	941	5	CTR9	11	10785039	Missense_Mutation	SNP	T	TCGA-CZ-5986-01A-11D-1669-08	5160098	10785039	124221477	30	33235											
CAT	847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	34478280	34478280	+	Silent	SNP	T	T	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:34478280T>C	ENST00000241052.4	+	8	1061	c.972T>C	c.(970-972)aaT>aaC	p.N324N		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	324					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.N324N(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATCCAGTTAATTACTTTGCTG	0.468																																																1	Substitution - coding silent(1)	kidney(1)											130	117	121					11																	34478280		2202	4298	6500	SO:0001819	synonymous_variant	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.972T>C	11.37:g.34478280T>C			A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Silent	SNP	ENST00000241052.4	37	CCDS7891.1																																																																																				0.468	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		C	34478280	T	C	34478280	2	2	606	1	0	0	0	0	0	0	0	1	2688	1490	52	3		3	CAT	11	34478280	Silent	SNP	T	TCGA-CZ-5986-01A-11D-1669-08	23693241	34478280	100528236	31	33236											
PRDM11	56981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	45245952	45245953	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:45245952_45245953GG>AA	ENST00000530656.1	+	7	1029_1030	c.1029_1030GG>AA	c.(1027-1032)ctGGag>ctAAag	p.E344K	PRDM11_ENST00000263765.4_Missense_Mutation_p.E344K|PRDM11_ENST00000424263.2_Missense_Mutation_p.E310K|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	344							methyltransferase activity (GO:0008168)	p.L343L(1)|p.L343>?(1)|p.E344K(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGATGTTCTGGAGGCCTCACT	0.52																																					NSCLC(118;1511 1736 6472 36603 43224)											3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	56981			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	Exception_encountered	11.37:g.45245952_45245953delinsAA	ENSP00000435976:p.Glu344Lys		Q8N9F1	Silent|Missense_Mutation	SNP	ENST00000530656.1	37																																																																																					0.52	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		AA	45245953	GG	AA	45245952	3	1	606	1	0	0	0	0	1	0	0	0	12457	1335	47	2	1055	2	PRDM11	11	45245952	Missense_Mutation	DNP	GG	TCGA-CZ-5986-01A-11D-1669-08	10767672	45245952	89760564	32	33237											
ATM	472	hgsc.bcm.edu;ucsc.edu	37	11	108127063	108127063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:108127063delC	ENST00000452508.2	+	15	2435	c.2246delC	c.(2245-2247)gccfs	p.A749fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.A749fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	749					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTCCAGAAAGCCAAGGTAGGA	0.348			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													84	84	84					11																	108127063		2201	4298	6499	SO:0001589	frameshift_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2246delC	11.37:g.108127063delC	ENSP00000388058:p.Ala749fs		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	CCDS31669.1																																																																																				0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		-	108127063	C	-	108127063	7	5	606	1	0	1	0	1	0	0	0	0	1109	739	26	0	2296	0	ATM	11	108127063	Frame_Shift_Del	DEL	C	TCGA-CZ-5986-01A-11D-1669-08	62881111	108127063	26879453	33	33238											
OR10G4	390264	broad.mit.edu;hgsc.bcm.edu	37	11	123886863	123886863	+	Missense_Mutation	SNP	C	C	A	rs386758379|rs567111591		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:123886863C>A	ENST00000320891.4	+	1	582	c.582C>A	c.(580-582)aaC>aaA	p.N194K		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N194K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCTCAGCCAACGTGATGGTCA	0.537																																																1	Substitution - Missense(1)	kidney(1)											252	198	216					11																	123886863		2201	4299	6500	SO:0001583	missense	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.582C>A	11.37:g.123886863C>A	ENSP00000325076:p.Asn194Lys		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	c	2.618	-0.289320	0.05605	.	.	ENSG00000254737	ENST00000320891	T	0.00198	8.57	3.33	-6.67	0.01783	GPCR, rhodopsin-like superfamily (1);	0.127393	0.34750	N	0.003715	T	0.00178	0.0005	M	0.75884	2.315	0.09310	N	1	P	0.35575	0.51	B	0.44085	0.44	T	0.57694	-0.7767	10	0.06891	T	0.86	.	5.0567	0.14537	0.1921:0.5125:0.097:0.1985	.	194	Q8NGN3	O10G4_HUMAN	K	194	ENSP00000325076:N194K	ENSP00000325076:N194K	N	+	3	2	OR10G4	123392073	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.609000	0.00209	-4.363000	0.00054	-2.571000	0.00171	AAC		0.537	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		A	123886863	C	A	123886863	3	1	606	1	0	0	0	0	1	0	0	0	10903	535	19	4	584	4	OR10G4	11	123886863	Missense_Mutation	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	15759800	123886863	11119653	34	33239											
NCAPD3	23310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	134079245	134079245	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr11:134079245A>T	ENST00000534548.2	-	5	758	c.694T>A	c.(694-696)Ttg>Atg	p.L232M		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	232					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.L232M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTTTCTTTCAAGGAAAACTTT	0.368																																																1	Substitution - Missense(1)	kidney(1)											50	54	53					11																	134079245		2200	4296	6496	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.694T>A	11.37:g.134079245A>T	ENSP00000433681:p.Leu232Met		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535762	0.64972	.	.	ENSG00000151503	ENST00000534548	T	0.61158	0.13	5.64	2.78	0.32641	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	P	0.60286	0.872	T	0.65821	-0.6075	10	0.46703	T	0.11	-16.9617	10.6255	0.45506	0.2093:0.0:0.7907:0.0	.	232	P42695	CNDD3_HUMAN	M	232	ENSP00000433681:L232M	ENSP00000431612:L232M	L	-	1	2	NCAPD3	133584455	1.000000	0.71417	0.975000	0.42487	0.786000	0.44442	2.891000	0.48617	0.477000	0.27464	-0.248000	0.11899	TTG		0.368	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		T	134079245	A	T	134079245	3	4	606	1	0	0	0	0	1	0	0	0	10208	69	3	5	3926	5	NCAPD3	11	134079245	Missense_Mutation	SNP	A	TCGA-CZ-5986-01A-11D-1669-08	10192382	134079245	927271	35	33240											
RERG	85004	broad.mit.edu;ucsc.edu	37	12	15262351	15262351	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:15262351A>C	ENST00000256953.2	-	5	629	c.293T>G	c.(292-294)cTt>cGt	p.L98R	RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000546331.1_Missense_Mutation_p.L79R|RERG_ENST00000538313.1_Missense_Mutation_p.L98R|RERG_ENST00000536465.1_Missense_Mutation_p.L98R	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	98					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L98R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GATGTTCTTAAGTGGCAGCAC	0.488																																																1	Substitution - Missense(1)	kidney(1)											312	311	311					12																	15262351		2203	4300	6503	SO:0001583	missense	85004			AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.293T>G	12.37:g.15262351A>C	ENSP00000256953:p.Leu98Arg		B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377733	0.82682	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331;ENST00000545567	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-0.63	5.23	5.23	0.72850	Small GTP-binding protein domain (1);	0.059091	0.64402	D	0.000001	D	0.86510	0.5950	M	0.71206	2.165	0.80722	D	1	D;D	0.65815	0.993;0.995	D;D	0.70935	0.938;0.971	D	0.88106	0.2822	10	0.87932	D	0	.	14.2414	0.65959	1.0:0.0:0.0:0.0	.	79;98	B4DI02;Q96A58	.;RERG_HUMAN	R	98;98;98;79;111	ENSP00000256953:L98R;ENSP00000441505:L98R;ENSP00000438280:L98R;ENSP00000444485:L79R;ENSP00000439532:L111R	ENSP00000256953:L98R	L	-	2	0	RERG	15153618	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	9.282000	0.95840	2.107000	0.64212	0.533000	0.62120	CTT		0.488	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		C	15262351	A	C	15262351	3	2	606	1	0	0	0	0	1	0	0	0	13238	72	3	5	310	5	RERG	12	15262351	Missense_Mutation	SNP	A	TCGA-CZ-5986-01A-11D-1669-08		15262351	118589544	36	33241											
SOX5	6660	broad.mit.edu;ucsc.edu	37	12	23818447	23818447	+	Missense_Mutation	SNP	G	G	A	rs557463084		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:23818447G>A	ENST00000451604.2	-	7	963	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	SOX5_ENST00000541536.1_Missense_Mutation_p.R275W|SOX5_ENST00000537393.1_Missense_Mutation_p.R253W|SOX5_ENST00000381381.2_Missense_Mutation_p.R275W|SOX5_ENST00000546136.1_Missense_Mutation_p.R275W|SOX5_ENST00000309359.1_Missense_Mutation_p.R275W|SOX5_ENST00000545921.1_Missense_Mutation_p.R278W			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	288					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R288W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCCAGTGTCCGTTGATCAGGA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17651	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											128	128	128					12																	23818447		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.862C>T	12.37:g.23818447G>A	ENSP00000398273:p.Arg288Trp		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908764	0.72868	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.97688	-4.48;-4.48;-4.38;-4.49;-4.45;-4.38;-4.48	5.34	4.43	0.53597	.	0.165410	0.49916	D	0.000132	D	0.98441	0.9481	M	0.77313	2.365	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.988;1.0	D	0.99353	1.0915	10	0.87932	D	0	.	13.1329	0.59393	0.0:0.0:0.709:0.291	.	253;275;288	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	W	275;275;275;288;240;253;275;278	ENSP00000437487:R275W;ENSP00000308927:R275W;ENSP00000370788:R275W;ENSP00000398273:R288W;ENSP00000439832:R253W;ENSP00000441973:R275W;ENSP00000443520:R278W	ENSP00000308927:R275W	R	-	1	2	SOX5	23709714	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.698000	0.54771	1.434000	0.47414	0.655000	0.94253	CGG		0.498	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		A	23818447	G	A	23818447	3	1	606	1	0	0	0	0	1	0	0	0	14960	1144	40	1	1475	1	SOX5	12	23818447	Missense_Mutation	SNP	G	TCGA-CZ-5986-01A-11D-1669-08	8556096	23818447	110033448	37	33242											
OR6C6	283365	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55688731	55688731	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:55688731C>T	ENST00000358433.2	-	1	285	c.286G>A	c.(286-288)Gca>Aca	p.A96T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A96T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATTGAGTTGCACAATTATTA	0.373																																																1	Substitution - Missense(1)	kidney(1)											40	43	42					12																	55688731		2203	4300	6503	SO:0001583	missense	283365				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.286G>A	12.37:g.55688731C>T	ENSP00000351211:p.Ala96Thr			Missense_Mutation	SNP	ENST00000358433.2	37	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	6.454	0.451922	0.12283	.	.	ENSG00000188324	ENST00000358433	T	0.00397	7.57	4.24	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.922689	0.09001	N	0.862980	T	0.00271	0.0008	L	0.41573	1.285	0.23293	N	0.997962	B	0.22683	0.073	B	0.22601	0.04	T	0.40021	-0.9585	10	0.36615	T	0.2	.	5.0113	0.14313	0.1683:0.6504:0.0:0.1813	.	96	A6NF89	OR6C6_HUMAN	T	96	ENSP00000351211:A96T	ENSP00000351211:A96T	A	-	1	0	OR6C6	53974998	0.000000	0.05858	0.877000	0.34402	0.144000	0.21451	-2.473000	0.00988	1.132000	0.42129	0.580000	0.79431	GCA		0.373	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			T	55688731	C	T	55688731	3	4	606	1	0	0	0	0	1	0	0	0	11196	710	25	2	660	2	OR6C6	12	55688731	Missense_Mutation	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	31870284	55688731	78163164	38	33243											
ANKRD52	283373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56647514	56647514	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:56647514A>T	ENST00000267116.7	-	9	1098	c.977T>A	c.(976-978)aTc>aAc	p.I326N		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	326								p.I326N(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						ACCATTCTGGATGAGGATCTG	0.498																																																1	Substitution - Missense(1)	kidney(1)											109	115	113					12																	56647514		1926	4132	6058	SO:0001583	missense	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.977T>A	12.37:g.56647514A>T	ENSP00000267116:p.Ile326Asn		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.667820	0.88348	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.25414	1.8	4.62	4.62	0.57501	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.58819	-0.7569	10	0.87932	D	0	.	13.45	0.61165	1.0:0.0:0.0:0.0	.	326	Q8NB46	ANR52_HUMAN	N	326	ENSP00000267116:I326N	ENSP00000267116:I326N	I	-	2	0	ANKRD52	54933781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	2.065000	0.61736	0.533000	0.62120	ATC		0.498	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		T	56647514	A	T	56647514	3	4	606	1	0	0	0	0	1	0	0	0	678	333	12	5	2333	5	ANKRD52	12	56647514	Missense_Mutation	SNP	A	TCGA-CZ-5986-01A-11D-1669-08	958783	56647514	77204381	39	33244											
BTBD11	121551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	107713793	107713793	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:107713793C>T	ENST00000280758.5	+	1	1604	c.1076C>T	c.(1075-1077)tCg>tTg	p.S359L	BTBD11_ENST00000490090.2_Missense_Mutation_p.S359L|BTBD11_ENST00000420571.2_Missense_Mutation_p.S359L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	359						integral component of membrane (GO:0016021)		p.S359L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AACAACGACTCGGAGATCTGG	0.647																																																1	Substitution - Missense(1)	kidney(1)											26	30	29					12																	107713793		1970	3928	5898	SO:0001583	missense	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1076C>T	12.37:g.107713793C>T	ENSP00000280758:p.Ser359Leu		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177862	0.57692	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706	T;T;T;T	0.52983	1.19;1.24;1.23;0.64	3.82	3.82	0.43975	Histone-fold (2);	0.565935	0.16091	N	0.230073	T	0.43322	0.1242	L	0.39898	1.24	0.80722	D	1	P;P;P	0.52170	0.876;0.804;0.951	B;B;B	0.42995	0.174;0.084;0.404	T	0.52997	-0.8500	10	0.72032	D	0.01	.	15.4996	0.75687	0.0:1.0:0.0:0.0	.	359;359;359	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	L	359;359;359;40	ENSP00000280758:S359L;ENSP00000413889:S359L;ENSP00000447319:S359L;ENSP00000447606:S40L	ENSP00000280758:S359L	S	+	2	0	BTBD11	106237923	0.962000	0.33011	0.941000	0.38009	0.993000	0.82548	6.966000	0.76073	1.943000	0.56356	0.561000	0.74099	TCG		0.647	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		T	107713793	C	T	107713793	3	4	606	1	0	0	0	0	1	0	0	0	1541	893	31	1	1078	1	BTBD11	12	107713793	Missense_Mutation	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	51066279	107713793	26138102	40	33245											
GOLGA3	2802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133351815	133351815	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr12:133351815T>A	ENST00000450791.2	-	21	4238	c.4055A>T	c.(4054-4056)aAa>aTa	p.K1352I	GOLGA3_ENST00000456883.2_Missense_Mutation_p.K1352I|GOLGA3_ENST00000204726.3_Missense_Mutation_p.K1352I			Q08378	GOGA3_HUMAN	golgin A3	1352	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.K1352I(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCCGACACTTTTGCCTGGAG	0.532																																																1	Substitution - Missense(1)	kidney(1)											97	83	88					12																	133351815		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4055A>T	12.37:g.133351815T>A	ENSP00000410378:p.Lys1352Ile		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.009117	0.75046	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.79554	-1.28;-1.28;1.25	6.07	4.91	0.64330	.	0.040600	0.85682	D	0.000000	D	0.87613	0.6221	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	D	0.87946	0.2720	10	0.87932	D	0	.	11.4927	0.50389	0.0:0.0724:0.0:0.9276	.	1352;1352	Q08378-2;Q08378	.;GOGA3_HUMAN	I	1352	ENSP00000204726:K1352I;ENSP00000410378:K1352I;ENSP00000409303:K1352I	ENSP00000204726:K1352I	K	-	2	0	GOLGA3	131861888	1.000000	0.71417	0.988000	0.46212	0.317000	0.28152	5.937000	0.70162	1.093000	0.41377	0.533000	0.62120	AAA		0.532	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		A	133351815	T	A	133351815	3	1	606	1	0	0	0	0	1	0	0	0	6556	1841	64	5	453	5	GOLGA3	12	133351815	Missense_Mutation	SNP	T	TCGA-CZ-5986-01A-11D-1669-08	25638022	133351815	500080	41	33246											
ATP11A	23250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	113508719	113508719	+	Silent	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr13:113508719G>A	ENST00000487903.1	+	19	2206	c.2118G>A	c.(2116-2118)agG>agA	p.R706R	ATP11A_ENST00000283558.8_Silent_p.R706R|ATP11A_ENST00000375630.2_Silent_p.R706R|ATP11A_ENST00000375645.3_Silent_p.R706R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	706					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R706R(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCTTCCGCAGGAACACGCAGC	0.637																																																2	Substitution - coding silent(2)	kidney(2)											64	59	60					13																	113508719		2203	4300	6503	SO:0001819	synonymous_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2118G>A	13.37:g.113508719G>A			Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443250	0.25987	.	.	ENSG00000068650	ENST00000418678	.	.	.	4.84	-4.48	0.03515	.	.	.	.	.	T	0.37156	0.0993	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34625	-0.9821	4	.	.	.	.	1.2293	0.01940	0.3367:0.1115:0.3298:0.2221	.	.	.	.	E	681	.	.	G	+	2	0	ATP11A	112556720	0.955000	0.32602	0.019000	0.16419	0.964000	0.63967	0.406000	0.21032	-1.025000	0.03334	0.561000	0.74099	GGA		0.637	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		A	113508719	G	A	113508719	2	1	606	1	0	0	0	0	0	0	0	1	1119	1165	41	2		2	ATP11A	13	113508719	Silent	SNP	G	TCGA-CZ-5986-01A-11D-1669-08		113508719	1661159	42	33247											
JUB	84962	hgsc.bcm.edu;ucsc.edu	37	14	23444255	23444260	+	In_Frame_Del	DEL	TTGCAA	TTGCAA	-	rs200247985		TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	TTGCAA	TTGCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr14:23444255_23444260delTTGCAA	ENST00000262713.2	-	5	1668_1673	c.1293_1298delTTGCAA	c.(1291-1299)gtttgcaac>gtc	p.CN432del	AJUBA_ENST00000361265.4_In_Frame_Del_p.CN432del|AJUBA_ENST00000397388.3_In_Frame_Del_p.CN15del|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	432	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CAGGCACTTGTTGCAAACAATGCATC	0.524																																																0																																										SO:0001651	inframe_deletion	0			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1293_1298delTTGCAA	14.37:g.23444255_23444260delTTGCAA	ENSP00000262713:p.Cys432_Asn433del		A8MX18|D3DS37	In_Frame_Del	DEL	ENST00000262713.2	37	CCDS9581.1																																																																																				0.524	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			-	23444260	TTGCAA	-	23444255	7	5	606	1	0	1	0	1	0	0	0	0	7970	1725	60	0	334	0	JUB	14	23444255	In_Frame_Del	DEL	TTGCAA	TCGA-CZ-5986-01A-11D-1669-08		23444255	83905285	43	33248											
BBS4	585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	73029249	73029249	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr15:73029249T>G	ENST00000268057.4	+	15	1436	c.1395T>G	c.(1393-1395)aaT>aaG	p.N465K	BBS4_ENST00000542334.1_Missense_Mutation_p.N293K|BBS4_ENST00000539603.1_Missense_Mutation_p.N453K|BBS4_ENST00000395205.2_Missense_Mutation_p.N473K	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	465	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.N465K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TGGGCTCTAATCAAGCTCTAG	0.527									Bardet-Biedl syndrome																																							1	Substitution - Missense(1)	kidney(1)											160	162	161					15																	73029249		2198	4297	6495	SO:0001583	missense	585	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1395T>G	15.37:g.73029249T>G	ENSP00000268057:p.Asn465Lys		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146592	0.57044	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.86	-1.02	0.10135	.	0.142496	0.64402	D	0.000007	T	0.80597	0.4653	M	0.64997	1.995	0.36379	D	0.86177	B;P;B	0.35272	0.277;0.493;0.181	B;B;B	0.32289	0.143;0.143;0.068	T	0.73754	-0.3883	10	0.22109	T	0.4	-2.4887	10.2913	0.43596	0.0:0.5286:0.0:0.4714	.	453;473;465	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	K	293;465;453;473	ENSP00000445964:N293K;ENSP00000268057:N465K;ENSP00000442492:N453K;ENSP00000378631:N473K	ENSP00000268057:N465K	N	+	3	2	BBS4	70816302	0.996000	0.38824	0.733000	0.30861	0.995000	0.86356	0.447000	0.21710	-0.084000	0.12595	0.533000	0.62120	AAT		0.527	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		G	73029249	T	G	73029249	3	3	606	1	0	0	0	0	1	0	0	0	1339	1432	50	5	1453	5	BBS4	15	73029249	Missense_Mutation	SNP	T	TCGA-CZ-5986-01A-11D-1669-08		73029249	29502143	44	33249											
AP3B2	8120	broad.mit.edu;hgsc.bcm.edu	37	15	83349316	83349316	+	Silent	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr15:83349316C>T	ENST00000261722.3	-	8	1170	c.963G>A	c.(961-963)gtG>gtA	p.V321V	AP3B2_ENST00000535348.1_Silent_p.V289V|AP3B2_ENST00000535359.1_Silent_p.V321V|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	321					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.V321V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCACCGCCATCACCACCGCGG	0.706																																																1	Substitution - coding silent(1)	kidney(1)											5	6	6					15																	83349316		1685	3747	5432	SO:0001819	synonymous_variant	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.963G>A	15.37:g.83349316C>T			A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	37	CCDS45331.1																																																																																				0.706	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			T	83349316	C	T	83349316	2	4	606	1	0	0	0	0	0	0	0	1	745	813	29	2		2	AP3B2	15	83349316	Silent	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	10320067	83349316	19182076	45	33250											
IQGAP1	8826	hgsc.bcm.edu;ucsc.edu	37	15	91035819	91035819	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr15:91035819delG	ENST00000268182.5	+	35	4628	c.4504delG	c.(4504-4506)gaafs	p.E1502fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.E930fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1502	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAGAAAGGCCGAACTAGTGAA	0.403																																																0													98	92	94					15																	91035819		2198	4298	6496	SO:0001589	frameshift_variant	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4504delG	15.37:g.91035819delG	ENSP00000268182:p.Glu1502fs		A7MBM3	Frame_Shift_Del	DEL	ENST00000268182.5	37	CCDS10362.1																																																																																				0.403	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		-	91035819	G	-	91035819	7	5	606	1	0	1	0	1	0	0	0	0	7816	1059	37	0	4642	0	IQGAP1	15	91035819	Frame_Shift_Del	DEL	G	TCGA-CZ-5986-01A-11D-1669-08	7686503	91035819	11495573	46	33251											
RSPRY1	89970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57255221	57255221	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr16:57255221G>C	ENST00000537866.1	+	10	1928	c.1055G>C	c.(1054-1056)tGc>tCc	p.C352S	RSPRY1_ENST00000394420.4_Missense_Mutation_p.C352S			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	352	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.C352S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGTGTGCGTTGCACCTTTTGT	0.488																																																1	Substitution - Missense(1)	kidney(1)											185	175	178					16																	57255221		2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1055G>C	16.37:g.57255221G>C	ENSP00000443176:p.Cys352Ser		Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198456	0.79015	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.72835	-0.69;-0.69	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	L	0.49513	1.565	0.80722	D	1	D	0.55800	0.973	P	0.53549	0.729	T	0.72861	-0.4164	10	0.34782	T	0.22	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	352	Q96DX4	RSPRY_HUMAN	S	352	ENSP00000377942:C352S;ENSP00000443176:C352S	ENSP00000377942:C352S	C	+	2	0	RSPRY1	55812722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.830000	0.99415	2.861000	0.98227	0.655000	0.94253	TGC		0.488	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		C	57255221	G	C	57255221	3	2	606	1	0	0	0	0	1	0	0	0	13719	1319	46	4	1089	4	RSPRY1	16	57255221	Missense_Mutation	SNP	G	TCGA-CZ-5986-01A-11D-1669-08		57255221	33099532	47	33252	249	2									
RSPRY1	89970	broad.mit.edu;ucsc.edu	37	16	57255223	57255223	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr16:57255223A>T	ENST00000537866.1	+	10	1930	c.1057A>T	c.(1057-1059)Acc>Tcc	p.T353S	RSPRY1_ENST00000394420.4_Missense_Mutation_p.T353S			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	353	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.T353S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGTGCGTTGCACCTTTTGTGT	0.483																																																1	Substitution - Missense(1)	kidney(1)											185	174	178					16																	57255223		2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1057A>T	16.37:g.57255223A>T	ENSP00000443176:p.Thr353Ser		Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	A	32	5.124578	0.94429	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.72394	-0.65;-0.65	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.82070	0.4957	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.81629	-0.0846	10	0.44086	T	0.13	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	353	Q96DX4	RSPRY_HUMAN	S	353	ENSP00000377942:T353S;ENSP00000443176:T353S	ENSP00000377942:T353S	T	+	1	0	RSPRY1	55812724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.303000	0.96183	2.308000	0.77769	0.533000	0.62120	ACC		0.483	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		T	57255223	A	T	57255223	3	4	606	1	0	0	0	0	1	0	0	0	13719	159	6	5	1091	5	RSPRY1	16	57255223	Missense_Mutation	SNP	A	TCGA-CZ-5986-01A-11D-1669-08	2	57255223	33099530	48	33253	249	2									
PHLPP2	23035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71683884	71683884	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr16:71683884A>C	ENST00000568954.1	-	19	3259	c.2881T>G	c.(2881-2883)Tgg>Ggg	p.W961G	PHLPP2_ENST00000356272.3_Missense_Mutation_p.W961G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.W996G|PHLPP2_ENST00000393524.2_Missense_Mutation_p.W894G|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000540628.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	961	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.W961G(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGGAGGATCCAAGGGTAGAGG	0.493																																																1	Substitution - Missense(1)	kidney(1)											85	77	80					16																	71683884		2198	4300	6498	SO:0001583	missense	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2881T>G	16.37:g.71683884A>C	ENSP00000457991:p.Trp961Gly		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593159	0.46214	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.08370	3.1;3.1	5.49	5.49	0.81192	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	L	0.38692	1.165	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.03795	-1.1003	10	0.25751	T	0.34	-9.1673	14.8012	0.69916	1.0:0.0:0.0:0.0	.	894;961	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	G	961;894	ENSP00000348611:W961G;ENSP00000377159:W894G	ENSP00000348611:W961G	W	-	1	0	PHLPP2	70241385	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.166000	0.71896	2.087000	0.62958	0.455000	0.32223	TGG		0.493	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		C	71683884	A	C	71683884	3	2	606	1	0	0	0	0	1	0	0	0	11857	130	5	5	1094	5	PHLPP2	16	71683884	Missense_Mutation	SNP	A	TCGA-CZ-5986-01A-11D-1669-08	14428661	71683884	18670869	49	33254											
SEZ6	124925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27284413	27284413	+	Missense_Mutation	SNP	C	C	T	rs117736100	byFrequency	TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr17:27284413C>T	ENST00000317338.12	-	12	2875	c.2447G>A	c.(2446-2448)cGc>cAc	p.R816H	SEZ6_ENST00000442608.3_Missense_Mutation_p.R816H|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R816H|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	816	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.R816H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCCAGCCTGGCGATCATGGCA	0.547													C|||	2	0.000399361	0.0	0.0	5008	,	,		19881	0.001		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG,HIS/ARG	2,3898		0,2,1948	101	112	109		2447,2447	5.7	1	17	dbSNP_132	109	16,8244		0,16,4114	yes	missense,missense	SEZ6	NM_001098635.1,NM_178860.4	29,29	0,18,6062	TT,TC,CC		0.1937,0.0513,0.148	probably-damaging,probably-damaging	816/994,816/995	27284413	18,12142	1950	4130	6080	SO:0001583	missense	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2447G>A	17.37:g.27284413C>T	ENSP00000312942:p.Arg816His		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	CCDS45639.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	24.3	4.511318	0.85389	5.13E-4	0.001937	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.63255	-0.03;-0.03	5.69	5.69	0.88448	Complement control module (2);Sushi/SCR/CCP (3);	0.062845	0.64402	D	0.000006	T	0.78362	0.4271	M	0.69248	2.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.79529	-0.1766	10	0.72032	D	0.01	.	17.2921	0.87159	0.0:1.0:0.0:0.0	.	816;691;816	Q53EL9-3;Q53EL9-2;Q53EL9	.;.;SEZ6_HUMAN	H	816;816;691;816	ENSP00000403784:R816H;ENSP00000353440:R816H	ENSP00000312942:R691H	R	-	2	0	SEZ6	24308539	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.466000	0.80914	2.693000	0.91896	0.313000	0.20887	CGC		0.547	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			T	27284413	C	T	27284413	3	4	606	1	0	0	0	0	1	0	0	0	14148	768	27	1	574	1	SEZ6	17	27284413	Missense_Mutation	SNP	C	TCGA-CZ-5986-01A-11D-1669-08		27284413	53910797	50	33255											
MED16	10025	broad.mit.edu;hgsc.bcm.edu	37	19	884992	884992	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:884992G>A	ENST00000589119.1	-	5	895	c.896C>T	c.(895-897)tCc>tTc	p.S299F	MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.S299F|MED16_ENST00000325464.1_Missense_Mutation_p.S299F|MED16_ENST00000312090.6_Missense_Mutation_p.S299F|MED16_ENST00000395808.3_Missense_Mutation_p.S299F			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	299					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S299F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTGGCTGGACGCGCACAA	0.677																																																1	Substitution - Missense(1)	kidney(1)											36	25	29					19																	884992		2199	4298	6497	SO:0001583	missense	10025			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.896C>T	19.37:g.884992G>A	ENSP00000464810:p.Ser299Phe		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258318	0.80246	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000424039	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.994;0.995;0.996;0.996;0.998	T	0.69580	-0.5107	10	0.72032	D	0.01	-2.897	16.8439	0.85975	0.0:0.0:1.0:0.0	.	299;299;299;299;299	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	F	299;299;299;299;299;155;299	ENSP00000325612:S299F;ENSP00000308528:S299F;ENSP00000379153:S299F;ENSP00000269814:S299F	ENSP00000269814:S299F	S	-	2	0	MED16	835992	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	9.035000	0.93752	2.218000	0.71995	0.561000	0.74099	TCC		0.677	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		A	884992	G	A	884992	3	1	606	1	0	0	0	0	1	0	0	0	9436	1174	41	2	1781	2	MED16	19	884992	Missense_Mutation	SNP	G	TCGA-CZ-5986-01A-11D-1669-08		884992	58243991	51	33256											
DNMT1	1786	broad.mit.edu	37	19	10246885	10246885	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:10246885T>C	ENST00000340748.4	-	37	4755	c.4520A>G	c.(4519-4521)cAc>cGc	p.H1507R	DNMT1_ENST00000359526.4_Missense_Mutation_p.H1523R|DNMT1_ENST00000540357.1_Missense_Mutation_p.H1510R			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1507	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.H1507R(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCAGTGGTTGTGCCGGTTCCC	0.642																																																1	Substitution - Missense(1)	kidney(1)											48	44	45					19																	10246885		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4520A>G	19.37:g.10246885T>C	ENSP00000345739:p.His1507Arg		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204777	0.79127	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.40756	1.02;1.02;1.02	5.41	4.38	0.52667	.	0.049360	0.85682	D	0.000000	T	0.61324	0.2338	M	0.70275	2.135	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;1.0;1.0	T	0.63171	-0.6697	10	0.87932	D	0	-44.3251	10.7364	0.46128	0.143:0.0:0.0:0.857	.	1510;1523;1507	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	R	1523;1510;1507;1375	ENSP00000352516:H1523R;ENSP00000440457:H1510R;ENSP00000345739:H1507R	ENSP00000345739:H1507R	H	-	2	0	DNMT1	10107885	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.587000	0.82613	0.862000	0.35528	0.454000	0.30748	CAC		0.642	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		C	10246885	T	C	10246885	3	2	606	1	0	0	0	0	1	0	0	0	4677	1696	59	3	346	3	DNMT1	19	10246885	Missense_Mutation	SNP	T	TCGA-CZ-5986-01A-11D-1669-08	9361893	10246885	48882098	52	33257											
IL27RA	9466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14157046	14157046	+	Silent	SNP	C	C	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:14157046C>G	ENST00000263379.2	+	7	974	c.849C>G	c.(847-849)acC>acG	p.T283T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	283					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.T283T(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AAGGAATTACCTGCTGCTGCT	0.582																																					Colon(164;1849 1896 4443 37792 47834)											1	Substitution - coding silent(1)	kidney(1)											160	162	161					19																	14157046		2203	4300	6503	SO:0001819	synonymous_variant	9466			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.849C>G	19.37:g.14157046C>G			A0N0L1|O60624	Silent	SNP	ENST00000263379.2	37	CCDS12303.1																																																																																				0.582	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		G	14157046	C	G	14157046	2	3	606	1	0	0	0	0	0	0	0	1	7683	668	24	4		4	IL27RA	19	14157046	Silent	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	3910161	14157046	44971937	53	33258											
KIAA1683	80726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18377009	18377009	+	Silent	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:18377009C>T	ENST00000600328.3	-	3	1534	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	KIAA1683_ENST00000392413.4_Silent_p.G447G|KIAA1683_ENST00000600359.3_Silent_p.G401G			Q9H0B3	K1683_HUMAN	KIAA1683	447						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.G447G(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCATCGCAGGCCCCGGGCATA	0.587																																																2	Substitution - coding silent(2)	kidney(2)											64	67	66					19																	18377009		2203	4300	6503	SO:0001819	synonymous_variant	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1341G>A	19.37:g.18377009C>T			B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	CCDS32958.1																																																																																				0.587	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			T	18377009	C	T	18377009	2	4	606	1	0	0	0	0	0	0	0	1	8253	726	26	2		2	KIAA1683	19	18377009	Silent	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	4219963	18377009	40751974	54	33259											
CEACAM5	1048	broad.mit.edu;hgsc.bcm.edu	37	19	42213711	42213711	+	Silent	SNP	C	C	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:42213711C>A	ENST00000221992.6	+	2	291	c.177C>A	c.(175-177)ccC>ccA	p.P59P	CEACAM7_ENST00000599715.1_5'Flank|CEA_ENST00000598976.1_Silent_p.P59P|CEACAM5_ENST00000398599.4_Silent_p.P59P|CEACAM5_ENST00000405816.1_Silent_p.P59P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	59	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.P59P(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACAATCTGCCCCAGCATCTTT	0.507																																																1	Substitution - coding silent(1)	kidney(1)											167	152	157					19																	42213711		2203	4300	6503	SO:0001819	synonymous_variant	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.177C>A	19.37:g.42213711C>A			H9KVA7	Silent	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	3.291	-0.144968	0.06627	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.09	-6.19	0.02078	.	.	.	.	.	T	0.20129	0.0484	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27434	-1.0074	5	0.38643	T	0.18	.	1.1349	0.01753	0.4881:0.1401:0.1904:0.1813	.	.	.	.	T	56	.	ENSP00000381600:P56T	P	+	1	0	CEACAM5	46905551	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.212000	0.17497	-1.273000	0.02424	0.305000	0.20034	CCA		0.507	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		A	42213711	C	A	42213711	2	1	606	1	0	0	0	0	0	0	0	1	3197	610	22	4		4	CEACAM5	19	42213711	Silent	SNP	C	TCGA-CZ-5986-01A-11D-1669-08	23836702	42213711	16915272	55	33260											
GPR4	2828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46094945	46094945	+	Silent	SNP	G	G	A			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:46094945G>A	ENST00000323040.4	-	2	1124	c.180C>T	c.(178-180)agC>agT	p.S60S	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	60					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S60S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGTCGGCGATGCTGAGGTTCA	0.642																																					Esophageal Squamous(117;181 1612 1673 14956 42937)											1	Substitution - coding silent(1)	kidney(1)											109	89	96					19																	46094945		2203	4300	6503	SO:0001819	synonymous_variant	2828			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.180C>T	19.37:g.46094945G>A			A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	CCDS12669.1																																																																																				0.642	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		A	46094945	G	A	46094945	2	1	606	1	0	0	0	0	0	0	0	1	6696	1310	46	2		2	GPR4	19	46094945	Silent	SNP	G	TCGA-CZ-5986-01A-11D-1669-08	3881234	46094945	13034038	56	33261											
NLRP4	147945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56363605	56363605	+	Silent	SNP	A	A	G			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr19:56363605A>G	ENST00000301295.6	+	2	581	c.159A>G	c.(157-159)gaA>gaG	p.E53E	NLRP4_ENST00000346986.5_Silent_p.E53E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	53	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E53E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CATCCCGGGAAGAACTTGCAA	0.403																																																1	Substitution - coding silent(1)	kidney(1)											79	80	80					19																	56363605		2203	4300	6503	SO:0001819	synonymous_variant	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.159A>G	19.37:g.56363605A>G			Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																				0.403	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		G	56363605	A	G	56363605	2	3	606	1	0	0	0	0	0	0	0	1	10481	69	3	3		3	NLRP4	19	56363605	Silent	SNP	A	TCGA-CZ-5986-01A-11D-1669-08	10268660	56363605	2765378	57	33262											
GGT7	2686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33447323	33447323	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5986-01A-11D-1669-08	TCGA-CZ-5986-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0abded91-5a5f-4923-bcf0-7fdda64ae232	a6338f94-6519-4637-9948-0990b8e3598a	g.chr20:33447323C>T	ENST00000336431.5	-	7	981	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	313					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.V313M(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						ACATCCAGCACCTCAGCCAGG	0.657																																																1	Substitution - Missense(1)	kidney(1)											35	30	31					20																	33447323		2203	4299	6502	SO:0001583	missense	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.937G>A	20.37:g.33447323C>T	ENSP00000338964:p.Val313Met		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530895	0.64972	.	.	ENSG00000131067	ENST00000336431	T	0.07021	3.23	5.84	3.9	0.45041	.	0.262583	0.38605	N	0.001625	T	0.14614	0.0353	M	0.70595	2.14	0.22280	N	0.999231	P;P	0.38335	0.627;0.627	B;B	0.44085	0.44;0.44	T	0.05903	-1.0857	10	0.66056	D	0.02	-6.5593	9.0274	0.36239	0.0:0.6041:0.3184:0.0775	.	313;313	A4FU32;Q9UJ14	.;GGT7_HUMAN	M	313	ENSP00000338964:V313M	ENSP00000338964:V313M	V	-	1	0	GGT7	32910984	0.974000	0.33945	0.697000	0.30258	0.982000	0.71751	2.222000	0.42926	1.464000	0.47987	0.561000	0.74099	GTG		0.657	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		T	33447323	C	T	33447323	3	4	606	1	0	0	0	0	1	0	0	0	6366	507	18	2	1087	2	GGT7	20	33447323	Missense_Mutation	SNP	C	TCGA-CZ-5986-01A-11D-1669-08		33447323	29578197	58	33263											
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11217322	11217322	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr1:11217322T>A	ENST00000361445.4	-	30	4432	c.4356A>T	c.(4354-4356)aaA>aaT	p.K1452N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1452	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.K1452N(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACTCGTGCAGTTTCTCATACC	0.517																																																1	Substitution - Missense(1)	kidney(1)											131	105	114					1																	11217322		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4356A>T	1.37:g.11217322T>A	ENSP00000354558:p.Lys1452Asn		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711551	0.68730	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.68624	-0.34	5.69	-4.66	0.03329	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.85299	2.745	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.83355	-0.0001	10	0.87932	D	0	-23.025	18.8169	0.92079	0.0:0.7585:0.0:0.2415	.	1452	P42345	MTOR_HUMAN	N	1452	ENSP00000354558:K1452N	ENSP00000354558:K1452N	K	-	3	2	MTOR	11139909	0.759000	0.28416	0.851000	0.33527	0.995000	0.86356	-0.074000	0.11450	-0.901000	0.03891	0.533000	0.62120	AAA		0.517	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		A	11217322	T	A	11217322	3	1	607	1	0	0	0	0	1	0	0	0	9956	1722	60	5	3409	5	MTOR	1	11217322	Missense_Mutation	SNP	T	TCGA-CZ-5987-01A-11D-1669-08		11217322	238033299	1	33264											
USP48	84196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22079531	22079531	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr1:22079531G>T	ENST00000308271.9	-	4	1142	c.494C>A	c.(493-495)cCa>cAa	p.P165Q	USP48_ENST00000529637.1_Missense_Mutation_p.P165Q|USP48_ENST00000421625.2_Missense_Mutation_p.P165Q|USP48_ENST00000400301.1_Missense_Mutation_p.P165Q	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	165	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.P165Q(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AAATCCTGATGGATCAATGTA	0.353																																																1	Substitution - Missense(1)	kidney(1)											84	85	84					1																	22079531		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.494C>A	1.37:g.22079531G>T	ENSP00000309262:p.Pro165Gln		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927690	0.92389	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625;ENST00000527823;ENST00000532737	T;T;T;T;T;T	0.80033	2.95;2.95;2.95;2.95;-0.88;-1.33	5.91	5.91	0.95273	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.92482	0.7613	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;0.996;1.0;1.0;1.0	D	0.93518	0.6859	10	0.87932	D	0	.	18.8601	0.92268	0.0:0.0:1.0:0.0	.	165;165;165;165;165;165	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	Q	165;165;165;165;38;38	ENSP00000383157:P165Q;ENSP00000309262:P165Q;ENSP00000431949:P165Q;ENSP00000406256:P165Q;ENSP00000434073:P38Q;ENSP00000435612:P38Q	ENSP00000309262:P165Q	P	-	2	0	USP48	21952118	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	9.382000	0.97209	2.813000	0.96785	0.655000	0.94253	CCA		0.353	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		T	22079531	G	T	22079531	3	4	607	1	0	0	0	0	1	0	0	0	17084	1348	47	4	2717	4	USP48	1	22079531	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	10862209	22079531	227171090	2	33265											
CA14	23632	broad.mit.edu	37	1	150234002	150234002	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr1:150234002C>A	ENST00000369111.4	+	3	1191	c.221C>A	c.(220-222)aCc>aAc	p.T74N	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	74					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.T74N(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	CAGCCTGGCACCGAGCCTTTG	0.527																																																1	Substitution - Missense(1)	kidney(1)											100	77	85					1																	150234002		2203	4300	6503	SO:0001583	missense	23632			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.221C>A	1.37:g.150234002C>A	ENSP00000358107:p.Thr74Asn		Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	CCDS947.1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455741	0.12283	.	.	ENSG00000118298	ENST00000369111	T	0.67171	-0.25	5.71	4.8	0.61643	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.288956	0.38005	N	0.001860	T	0.24812	0.0602	N	0.22421	0.69	0.25298	N	0.989309	B	0.10296	0.003	B	0.15052	0.012	T	0.11941	-1.0567	10	0.10902	T	0.67	.	7.6447	0.28312	0.1621:0.7551:0.0:0.0828	.	74	Q9ULX7	CAH14_HUMAN	N	74	ENSP00000358107:T74N	ENSP00000358107:T74N	T	+	2	0	CA14	148500626	0.003000	0.15002	0.796000	0.32109	0.946000	0.59487	1.049000	0.30392	1.428000	0.47296	0.563000	0.77884	ACC		0.527	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		A	150234002	C	A	150234002	3	1	607	1	0	0	0	0	1	0	0	0	2517	507	18	4	231	4	CA14	1	150234002	Missense_Mutation	SNP	C	TCGA-CZ-5987-01A-11D-1669-08	128154471	150234002	99016619	3	33266											
CADM3	57863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159163732	159163732	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr1:159163732T>G	ENST00000368125.4	+	5	750	c.593T>G	c.(592-594)gTt>gGt	p.V198G	CADM3_ENST00000368124.4_Missense_Mutation_p.V232G|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	198	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.V232G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACATTCCAGGTTACCCGGGAG	0.502																																																1	Substitution - Missense(1)	kidney(1)											111	96	101					1																	159163732		2203	4300	6503	SO:0001583	missense	57863			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.593T>G	1.37:g.159163732T>G	ENSP00000357107:p.Val198Gly		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147008	0.57151	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.77358	-1.09;-1.09	5.0	5.0	0.66597	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81880	0.4916	M	0.72576	2.205	0.80722	D	1	P;D	0.89917	0.739;1.0	P;D	0.87578	0.614;0.998	T	0.80204	-0.1479	10	0.26408	T	0.33	.	12.7115	0.57092	0.0:0.0:0.0:1.0	.	198;232	Q8N126;Q8N126-2	CADM3_HUMAN;.	G	232;198	ENSP00000357106:V232G;ENSP00000357107:V198G	ENSP00000357106:V232G	V	+	2	0	CADM3	157430356	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	4.500000	0.60387	2.099000	0.63709	0.459000	0.35465	GTT		0.502	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		G	159163732	T	G	159163732	3	3	607	1	0	0	0	0	1	0	0	0	2570	1725	60	5	717	5	CADM3	1	159163732	Missense_Mutation	SNP	T	TCGA-CZ-5987-01A-11D-1669-08	8929730	159163732	90086889	4	33267											
ATP1A2	477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160100072	160100072	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr1:160100072C>T	ENST00000361216.3	+	12	1731	c.1642C>T	c.(1642-1644)Cgt>Tgt	p.R548C	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R548C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	548					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R548C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACTTGGGGAGCGTGTGCTGGG	0.622																																																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM082492	ATP1A2	M							52	53	53					1																	160100072		2203	4300	6503	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1642C>T	1.37:g.160100072C>T	ENSP00000354490:p.Arg548Cys		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470618	0.63625	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.92699	-3.09;-3.09	4.61	4.61	0.57282	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	H	0.99299	4.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97747	1.0212	10	0.87932	D	0	.	10.5807	0.45255	0.3107:0.6893:0.0:0.0	.	548;448;548	B1AKY9;F5GXJ7;P50993	.;.;AT1A2_HUMAN	C	548;548;251	ENSP00000354490:R548C;ENSP00000376066:R548C	ENSP00000354490:R548C	R	+	1	0	ATP1A2	158366696	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	1.234000	0.32660	2.283000	0.76528	0.511000	0.50034	CGT		0.622	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		T	160100072	C	T	160100072	3	4	607	1	0	0	0	0	1	0	0	0	1129	768	27	1	1688	1	ATP1A2	1	160100072	Missense_Mutation	SNP	C	TCGA-CZ-5987-01A-11D-1669-08	936340	160100072	89150549	5	33268											
SH2D1B	117157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	162368719	162368719	+	Silent	SNP	T	T	G			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr1:162368719T>G	ENST00000367929.2	-	3	466	c.357A>C	c.(355-357)acA>acC	p.T119T	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	119					leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)	p.T119T(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTACCACAAATGTTTCCAACT	0.398																																																1	Substitution - coding silent(1)	kidney(1)											83	80	81					1																	162368719		2203	4300	6503	SO:0001819	synonymous_variant	117157			AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"SH2 domain containing"	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.357A>C	1.37:g.162368719T>G			B2RBN6|Q5T0L1|Q8NI18|Q969K9	Silent	SNP	ENST00000367929.2	37	CCDS30928.1																																																																																				0.398	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		G	162368719	T	G	162368719	2	3	607	1	0	0	0	0	0	0	0	1	14237	1451	51	5		5	SH2D1B	1	162368719	Silent	SNP	T	TCGA-CZ-5987-01A-11D-1669-08	2268647	162368719	86881902	6	33269											
KIAA1614	57710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	180910371	180910371	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr1:180910371C>T	ENST00000367588.4	+	7	3164	c.3109C>T	c.(3109-3111)Cct>Tct	p.P1037S	KIAA1614_ENST00000367587.1_Missense_Mutation_p.P658S|KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1037	Ser-rich.							p.P1037S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCCGCCCCGCCTGGCCTGAC	0.662																																																1	Substitution - Missense(1)	kidney(1)											32	38	36					1																	180910371		1944	4126	6070	SO:0001583	missense	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3109C>T	1.37:g.180910371C>T	ENSP00000356560:p.Pro1037Ser		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704565	0.48412	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.26067	2.32;1.76	4.97	3.06	0.35304	.	0.442345	0.23955	N	0.042904	T	0.22551	0.0544	M	0.64997	1.995	0.26061	N	0.981352	B;P	0.46912	0.291;0.886	B;B	0.40256	0.104;0.324	T	0.29181	-1.0020	9	0.32370	T	0.25	-4.7725	6.6478	0.22945	0.1772:0.7277:0.0:0.0951	.	658;1037	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	S	1037;658	ENSP00000356560:P1037S;ENSP00000356559:P658S	ENSP00000356559:P658S	P	+	1	0	KIAA1614	179176994	0.001000	0.12720	0.013000	0.15412	0.002000	0.02628	0.214000	0.17541	0.471000	0.27319	-0.310000	0.09108	CCT		0.662	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		T	180910371	C	T	180910371	3	4	607	1	0	0	0	0	1	0	0	0	8250	739	26	2	3135	2	KIAA1614	1	180910371	Missense_Mutation	SNP	C	TCGA-CZ-5987-01A-11D-1669-08	18541652	180910371	68340250	7	33270											
C1orf26	54823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	185143987	185143987	+	Silent	SNP	C	C	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr1:185143987C>T	ENST00000367500.4	+	5	873	c.708C>T	c.(706-708)atC>atT	p.I236I	SWT1_ENST00000367501.3_Silent_p.I236I	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	236								p.I236I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTTTCAAAATCCCTATAAAAT	0.353																																																1	Substitution - coding silent(1)	kidney(1)											80	90	87					1																	185143987		2202	4300	6502	SO:0001819	synonymous_variant	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.708C>T	1.37:g.185143987C>T			Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	ENST00000367500.4	37	CCDS1367.1																																																																																				0.353	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		T	185143987	C	T	185143987	2	4	607	1	0	0	0	0	0	0	0	1	2037	845	30	2		2	C1orf26	1	185143987	Silent	SNP	C	TCGA-CZ-5987-01A-11D-1669-08	4233616	185143987	64106634	8	33271											
C2orf29	55571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	101885790	101885790	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr2:101885790G>C	ENST00000289382.3	+	7	1611	c.1448G>C	c.(1447-1449)aGg>aCg	p.R483T	RNF149_ENST00000485752.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	483					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R483T(1)									GAATTCAGTAGGATACGAGAA	0.393																																																1	Substitution - Missense(1)	kidney(1)											110	112	111					2																	101885790		2203	4300	6503	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1448G>C	2.37:g.101885790G>C	ENSP00000289382:p.Arg483Thr		Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232675	0.95207	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.86029	0.5835	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86718	0.1940	9	0.54805	T	0.06	-29.3377	20.422	0.99049	0.0:0.0:1.0:0.0	.	483	Q9UKZ1	CB029_HUMAN	T	483	.	ENSP00000289382:R483T	R	+	2	0	C2orf29	101252222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.731000	0.98807	2.832000	0.97577	0.655000	0.94253	AGG		0.393	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		C	101885790	G	C	101885790	3	2	607	1	0	0	0	0	1	0	0	0	2163	1000	35	4	1474	4	C2orf29	2	101885790	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08		101885790	141313583	9	33272											
BAZ2B	29994	broad.mit.edu;hgsc.bcm.edu	37	2	160289320	160289320	+	Missense_Mutation	SNP	T	T	G	rs576575200		TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr2:160289320T>G	ENST00000392783.2	-	9	2343	c.1848A>C	c.(1846-1848)gaA>gaC	p.E616D	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E614D|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E616D|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E614D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	616	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E616D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						catcttcttcttcatcatctt	0.333																																																1	Substitution - Missense(1)	kidney(1)											75	75	75					2																	160289320		1994	4197	6191	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1848A>C	2.37:g.160289320T>G	ENSP00000376534:p.Glu616Asp		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.195|9.195	1.027095|1.027095	0.19512|0.19512	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000546335	T;T;T;T|.	0.09163|.	3.01;3.01;3.01;3.01|.	5.47|5.47	3.4|3.4	0.38934|0.38934	.|.	0.212596|.	0.22957|.	U|.	0.053583|.	T|T	0.17492|0.17492	0.0420|0.0420	N|N	0.04880|0.04880	-0.145|-0.145	0.21355|0.21355	N|N	0.999712|0.999712	B;B;B;B;B|.	0.09022|.	0.002;0.002;0.001;0.001;0.0|.	B;B;B;B;B|.	0.10450|.	0.005;0.003;0.003;0.003;0.001|.	T|T	0.11155|0.11155	-1.0599|-1.0599	10|6	0.27785|0.41790	T|T	0.31|0.15	-2.3109|-2.3109	4.4662|4.4662	0.11691|0.11691	0.2881:0.4986:0.0:0.2133|0.2881:0.4986:0.0:0.2133	.|.	616;420;614;614;616|.	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8|.	.;.;.;.;BAZ2B_HUMAN|.	D|T	614;616;616;614|516	ENSP00000376533:E614D;ENSP00000376534:E616D;ENSP00000348087:E616D;ENSP00000339670:E614D|.	ENSP00000339670:E614D|ENSP00000437619:K516T	E|K	-|-	3|2	2|0	BAZ2B|BAZ2B	159997566|159997566	0.186000|0.186000	0.23225|0.23225	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	-0.203000|-0.203000	0.09438|0.09438	1.338000|1.338000	0.45544|0.45544	-0.213000|-0.213000	0.12676|0.12676	GAA|AAG		0.333	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			G	160289320	T	G	160289320	3	3	607	1	0	0	0	0	1	0	0	0	1332	1606	56	5	4774	5	BAZ2B	2	160289320	Missense_Mutation	SNP	T	TCGA-CZ-5987-01A-11D-1669-08	58403530	160289320	82910053	10	33273											
AGPS	8540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178326666	178326666	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr2:178326666G>C	ENST00000264167.4	+	9	1062	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	306	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.E306Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGATTCCCTGGAGTTCAGTAC	0.378																																																1	Substitution - Missense(1)	kidney(1)											99	95	96					2																	178326666		2203	4300	6503	SO:0001583	missense	8540			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.916G>C	2.37:g.178326666G>C	ENSP00000264167:p.Glu306Gln		A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206416	0.95033	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.96396	-4.0	5.76	5.76	0.90799	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.049379	0.85682	D	0.000000	D	0.98346	0.9451	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98583	1.0651	10	0.59425	D	0.04	.	19.9584	0.97232	0.0:0.0:1.0:0.0	.	306	O00116	ADAS_HUMAN	Q	306;176	ENSP00000264167:E306Q	ENSP00000264167:E306Q	E	+	1	0	AGPS	178034912	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.229000	0.95273	2.717000	0.92951	0.655000	0.94253	GAG		0.378	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			C	178326666	G	C	178326666	3	2	607	1	0	0	0	0	1	0	0	0	394	1175	41	4	950	4	AGPS	2	178326666	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	18037346	178326666	64872707	11	33274											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191570	10191570	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr3:10191570T>C	ENST00000256474.2	+	3	1403	c.563T>C	c.(562-564)cTg>cCg	p.L188P	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.L147P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	188			L -> P (in VHLD; type I-II). {ECO:0000269|PubMed:9829912}.|L -> Q (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|L -> V (in ECYT2, pheochromocytoma and VHLD; type IIA; dbSNP:rs5030824). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:12844285}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L188P(4)|p.L188fs*14(2)|p.L188Q(2)|p.D187_L188del(2)|p.L188R(2)|p.D187_N193del(1)|p.E189fs*27(1)|p.Y185fs*11(1)|p.D187fs*14(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TACGAAGATCTGGAAGACCAC	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	16	Substitution - Missense(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Insertion - Frameshift(1)	kidney(16)	GRCh37	CD962181|CM951299|CM982013	VHL	D|M							76	69	72					3																	10191570		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.563T>C	3.37:g.10191570T>C	ENSP00000256474:p.Leu188Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312357	0.81358	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99878	-7.42;-7.42	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000002	D	0.99799	0.9914	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96566	0.9419	10	0.87932	D	0	-7.586	12.9354	0.58311	0.0:0.0:0.0:1.0	.	147;188	P40337-2;P40337	.;VHL_HUMAN	P	188;147;106	ENSP00000256474:L188P;ENSP00000344757:L147P	ENSP00000256474:L188P	L	+	2	0	VHL	10166570	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.790000	0.69038	2.209000	0.71365	0.533000	0.62120	CTG		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10191570	T	C	10191570	3	2	607	1	0	0	0	0	1	0	0	0	17167	1580	55	3	573	3	VHL	3	10191570	Missense_Mutation	SNP	T	TCGA-CZ-5987-01A-11D-1669-08		10191570	187830860	12	33275											
PDCD6IP	10015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33855050	33855050	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr3:33855050G>A	ENST00000307296.3	+	3	641		c.e3-1		PDCD6IP_ENST00000457054.2_Splice_Site|PDCD6IP_ENST00000498147.1_Splice_Site			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.?(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						ATTCTATCCAGATCTGCTTGA	0.323																																																1	Unknown(1)	kidney(1)											148	150	149					3																	33855050		2203	4300	6503	SO:0001630	splice_region_variant	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.265-1G>A	3.37:g.33855050G>A			C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Splice_Site	SNP	ENST00000307296.3	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281069	0.80692	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.965	0.92692	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDCD6IP	33830054	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	9.291000	0.96070	2.487000	0.83934	0.563000	0.77884	.		0.323	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2		Intron	A	33855050	G	A	33855050	5	1	607	1	0	0	0	0	0	0	1	0	11626	956	33	2	274	2	PDCD6IP	3	33855050	Splice_Site	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	23663480	33855050	164167380	13	33276											
SUCLG2	8801	broad.mit.edu;hgsc.bcm.edu	37	3	67578587	67578587	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr3:67578587T>C	ENST00000307227.5	-	4	413	c.386A>G	c.(385-387)cAa>cGa	p.Q129R	SUCLG2_ENST00000493112.1_Missense_Mutation_p.Q129R|SUCLG2_ENST00000492795.1_Missense_Mutation_p.Q129R	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	129	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.Q129R(1)|p.Q81R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTTTGGAGTTTGTTTTGTCGC	0.348																																																2	Substitution - Missense(2)	kidney(2)											119	105	109					3																	67578587		1836	4082	5918	SO:0001583	missense	8801			AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.386A>G	3.37:g.67578587T>C	ENSP00000307432:p.Gln129Arg		C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	ENST00000307227.5	37	CCDS43104.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.772120	0.90108	.	.	ENSG00000172340	ENST00000493112;ENST00000307227;ENST00000541608;ENST00000492795	T;T;T	0.73152	-0.72;-0.72;-0.72	5.95	5.95	0.96441	ATP-grasp fold, subdomain 1 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	H	0.95816	3.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.92170	0.5743	10	0.87932	D	0	.	16.4219	0.83766	0.0:0.0:0.0:1.0	.	81;129	F5H4S7;Q96I99	.;SUCB2_HUMAN	R	129;129;81;129	ENSP00000419325:Q129R;ENSP00000307432:Q129R;ENSP00000417589:Q129R	ENSP00000307432:Q129R	Q	-	2	0	SUCLG2	67661277	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.841000	0.86834	2.277000	0.76020	0.528000	0.53228	CAA		0.348	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351993.1	NM_003848		C	67578587	T	C	67578587	3	2	607	1	0	0	0	0	1	0	0	0	15370	1812	63	3	1088	3	SUCLG2	3	67578587	Missense_Mutation	SNP	T	TCGA-CZ-5987-01A-11D-1669-08	33723537	67578587	130443843	14	33277											
VPS8	23355	broad.mit.edu;ucsc.edu	37	3	184633149	184633149	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr3:184633149G>A	ENST00000437079.3	+	28	2440	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K	VPS8_ENST00000436792.2_Missense_Mutation_p.E755K|VPS8_ENST00000446204.2_Missense_Mutation_p.E665K|VPS8_ENST00000287546.4_Missense_Mutation_p.E757K	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	757							zinc ion binding (GO:0008270)	p.E757K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GCAGGTTTTTGAATTTCTAAT	0.368																																																1	Substitution - Missense(1)	kidney(1)											52	48	49					3																	184633149		1794	4078	5872	SO:0001583	missense	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2269G>A	3.37:g.184633149G>A	ENSP00000397879:p.Glu757Lys		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881830	0.72294	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.18338	2.22;2.22;2.22;2.25	6.0	6.0	0.97389	Quinonprotein alcohol dehydrogenase-like (1);	0.141180	0.64402	D	0.000006	T	0.18551	0.0445	L	0.38531	1.155	0.80722	D	1	P;P;P	0.45176	0.852;0.694;0.822	B;B;B	0.42462	0.388;0.19;0.269	T	0.01762	-1.1279	10	0.18710	T	0.47	-20.1271	20.105	0.97888	0.0:0.0:1.0:0.0	.	757;665;755	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	K	757;757;755;665	ENSP00000287546:E757K;ENSP00000397879:E757K;ENSP00000404704:E755K;ENSP00000405483:E665K	ENSP00000287546:E757K	E	+	1	0	VPS8	186115843	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.179000	0.94861	2.846000	0.97976	0.650000	0.86243	GAA		0.368	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		A	184633149	G	A	184633149	3	1	607	1	0	0	0	0	1	0	0	0	17223	1291	45	2	2371	2	VPS8	3	184633149	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	117054562	184633149	13389281	15	33278											
DCLK2	166614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	151169528	151169528	+	Silent	SNP	C	C	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr4:151169528C>A	ENST00000296550.7	+	14	2701	c.1947C>A	c.(1945-1947)ccC>ccA	p.P649P	DCLK2_ENST00000506325.1_Silent_p.P648P|DCLK2_ENST00000302176.8_Silent_p.P666P	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	649	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P649P(1)|p.P666P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGAGTCACCCCTGGGTGTCAG	0.478																																					GBM(195;186 2215 13375 16801 37459)											2	Substitution - coding silent(2)	kidney(2)											100	96	97					4																	151169528		2203	4300	6503	SO:0001819	synonymous_variant	166614			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1947C>A	4.37:g.151169528C>A			C9J5Q9|Q59GC8|Q8N399	Silent	SNP	ENST00000296550.7	37	CCDS34076.1																																																																																				0.478	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		A	151169528	C	A	151169528	2	1	607	1	0	0	0	0	0	0	0	1	4294	668	24	4		4	DCLK2	4	151169528	Silent	SNP	C	TCGA-CZ-5987-01A-11D-1669-08		151169528	39984748	16	33279											
OSMR	9180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	38921794	38921794	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr5:38921794A>G	ENST00000274276.3	+	12	2065	c.1663A>G	c.(1663-1665)Ata>Gta	p.I555V		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	555	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.I555V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGGAGATGTTATAGGCTATGT	0.458																																																1	Substitution - Missense(1)	kidney(1)											234	212	219					5																	38921794		2203	4300	6503	SO:0001583	missense	9180			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1663A>G	5.37:g.38921794A>G	ENSP00000274276:p.Ile555Val		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	A	4.019	0.000927	0.07819	.	.	ENSG00000145623	ENST00000274276	T	0.55760	0.5	5.14	-5.77	0.02369	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.135170	0.06098	N	0.664870	T	0.24470	0.0593	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18116	-1.0347	10	0.29301	T	0.29	.	7.9416	0.29961	0.2511:0.2748:0.4741:0.0	.	555	Q99650	OSMR_HUMAN	V	555	ENSP00000274276:I555V	ENSP00000274276:I555V	I	+	1	0	OSMR	38957551	0.000000	0.05858	0.000000	0.03702	0.342000	0.28953	-2.061000	0.01391	-0.982000	0.03515	-0.280000	0.10049	ATA		0.458	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		G	38921794	A	G	38921794	3	3	607	1	0	0	0	0	1	0	0	0	11294	449	16	3	1743	3	OSMR	5	38921794	Missense_Mutation	SNP	A	TCGA-CZ-5987-01A-11D-1669-08		38921794	141993466	17	33280											
BAT2	7916	broad.mit.edu;hgsc.bcm.edu	37	6	31593611	31593611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr6:31593611C>T	ENST00000376033.2	+	8	1036	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	PRRC2A_ENST00000469577.1_3'UTR|SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.Q268*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	268	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q268*(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTATGGACCCCAGGGGCCTTA	0.582																																																1	Substitution - Nonsense(1)	kidney(1)											75	67	70					6																	31593611		1511	2709	4220	SO:0001587	stop_gained	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.802C>T	6.37:g.31593611C>T	ENSP00000365201:p.Gln268*		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Nonsense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	40	8.146706	0.98675	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	.	.	.	4.98	4.98	0.66077	.	0.000000	0.47852	D	0.000217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.2448	17.1913	0.86880	0.0:1.0:0.0:0.0	.	.	.	.	X	268	.	ENSP00000365175:Q268X	Q	+	1	0	PRRC2A	31701590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.665000	0.61547	2.605000	0.88082	0.655000	0.94253	CAG		0.582	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		T	31593611	C	T	31593611	4	4	607	1	0	0	0	0	0	1	0	0	1319	595	21	2	828	2	BAT2	6	31593611	Nonsense_Mutation	SNP	C	TCGA-CZ-5987-01A-11D-1669-08		31593611	139521456	18	33281											
RPS18	6222	broad.mit.edu;hgsc.bcm.edu	37	6	33240437	33240437	+	Silent	SNP	T	T	C			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr6:33240437T>C	ENST00000439602.2	+	2	146	c.36T>C	c.(34-36)atT>atC	p.I12I	RPS18_ENST00000476222.1_3'UTR|VPS52_ENST00000482399.1_5'Flank|VPS52_ENST00000436044.2_5'Flank|RPS18_ENST00000474973.1_5'UTR|VPS52_ENST00000478934.1_5'Flank|VPS52_ENST00000445902.2_5'Flank			P62269	RS18_HUMAN	ribosomal protein S18	12					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.I12I(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						TCCAGCATATTTTGCGAGTAC	0.433																																																1	Substitution - coding silent(1)	kidney(1)											126	135	132					6																	33240437		2203	4300	6503	SO:0001819	synonymous_variant	6222			X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"S ribosomal proteins"	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.36T>C	6.37:g.33240437T>C			P25232|Q5SUJ3|Q6IPF8	Silent	SNP	ENST00000439602.2	37	CCDS4771.1																																																																																				0.433	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2			C	33240437	T	C	33240437	2	2	607	1	0	0	0	0	0	0	0	1	13634	1829	64	3		3	RPS18	6	33240437	Silent	SNP	T	TCGA-CZ-5987-01A-11D-1669-08	1646826	33240437	137874630	19	33282											
ABCC10	89845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43400901	43400901	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr6:43400901G>C	ENST00000372530.4	+	3	1398	c.1183G>C	c.(1183-1185)Gct>Cct	p.A395P	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.A352P	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	395	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A352P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GCTTAACTTTGCTGGGAGCTT	0.607																																																1	Substitution - Missense(1)	kidney(1)											58	59	59					6																	43400901		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1183G>C	6.37:g.43400901G>C	ENSP00000361608:p.Ala395Pro		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832021	0.71258	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.89875	-2.58;-2.58	5.37	4.5	0.54988	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.272392	0.36134	N	0.002777	D	0.84320	0.5446	L	0.49571	1.57	0.32056	N	0.596294	P;P	0.47484	0.831;0.896	P;P	0.52881	0.712;0.602	D	0.83753	0.0210	10	0.66056	D	0.02	-33.3125	7.4201	0.27067	0.0837:0.0:0.6386:0.2777	.	352;395	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	P	395;352	ENSP00000361608:A395P;ENSP00000244533:A352P	ENSP00000244533:A352P	A	+	1	0	ABCC10	43508879	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.826000	0.69293	1.278000	0.44430	0.561000	0.74099	GCT		0.607	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		C	43400901	G	C	43400901	3	2	607	1	0	0	0	0	1	0	0	0	50	1319	46	4	1056	4	ABCC10	6	43400901	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	10160464	43400901	127714166	20	33283											
GRM3	2913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	86468364	86468364	+	Missense_Mutation	SNP	C	C	A	rs17856664		TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr7:86468364C>A	ENST00000361669.2	+	4	2633	c.1534C>A	c.(1534-1536)Ccc>Acc	p.P512T	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.P384T|GRM3_ENST00000546348.1_Missense_Mutation_p.P104T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	512				P -> A (in Ref. 4; AAH22496). {ECO:0000305}.	adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.P512T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GTGCAGCGACCCCTGTGCCCC	0.512																																					GBM(52;969 1098 3139 52280)											1	Substitution - Missense(1)	kidney(1)											90	83	86					7																	86468364		2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1534C>A	7.37:g.86468364C>A	ENSP00000355316:p.Pro512Thr		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258930	0.80246	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.90133	-2.62;-2.62;-2.62	6.17	6.17	0.99709	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.95056	0.8399	M	0.66560	2.04	0.80722	D	1	P;D;D	0.71674	0.733;0.998;0.986	P;D;D	0.76071	0.569;0.987;0.971	D	0.94653	0.7841	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	104;384;512	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	T	512;104;384	ENSP00000355316:P512T;ENSP00000444064:P104T;ENSP00000441407:P384T	ENSP00000355316:P512T	P	+	1	0	GRM3	86306300	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCC		0.512	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			A	86468364	C	A	86468364	3	1	607	1	0	0	0	0	1	0	0	0	6800	623	22	4	1544	4	GRM3	7	86468364	Missense_Mutation	SNP	C	TCGA-CZ-5987-01A-11D-1669-08		86468364	72670299	21	33284											
HEPACAM2	253012	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92844896	92844896	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr7:92844896A>G	ENST00000394468.2	-	3	610	c.533T>C	c.(532-534)cTa>cCa	p.L178P	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.L201P|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.L166P|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.L166P	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	178	Ig-like C2-type 1.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.L178P(1)|p.L166P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTGGTAAGCTAGCCGAGTGCC	0.522																																																2	Substitution - Missense(2)	kidney(2)											119	112	114					7																	92844896		2203	4300	6503	SO:0001583	missense	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.533T>C	7.37:g.92844896A>G	ENSP00000377980:p.Leu178Pro		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	A	8.817	0.936548	0.18206	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.59	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.184916	0.46758	D	0.000277	T	0.28797	0.0714	N	0.00985	-1.075	0.58432	D	0.999997	B;B;B;B	0.19331	0.035;0.023;0.009;0.003	B;B;B;B	0.18561	0.018;0.022;0.013;0.004	T	0.09796	-1.0658	10	0.42905	T	0.14	-3.048	13.0375	0.58881	0.8654:0.1346:0.0:0.0	.	201;166;178;166	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	P	178;166;166;201	ENSP00000377980:L178P;ENSP00000340532:L166P;ENSP00000389592:L166P;ENSP00000390204:L201P	ENSP00000340532:L166P	L	-	2	0	HEPACAM2	92682832	0.602000	0.26916	0.043000	0.18650	0.416000	0.31233	3.978000	0.56881	1.038000	0.40049	0.482000	0.46254	CTA		0.522	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		G	92844896	A	G	92844896	3	3	607	1	0	0	0	0	1	0	0	0	7055	420	15	3	887	3	HEPACAM2	7	92844896	Missense_Mutation	SNP	A	TCGA-CZ-5987-01A-11D-1669-08	6376532	92844896	66293767	22	33285											
AASS	10157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121719654	121719654	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr7:121719654T>G	ENST00000393376.1	-	20	2488	c.2393A>C	c.(2392-2394)gAa>gCa	p.E798A	AASS_ENST00000417368.2_Missense_Mutation_p.E798A|AASS_ENST00000473553.1_5'UTR|RNU7-154P_ENST00000516194.1_RNA			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	798	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.E798A(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TGCCTACCATTCAGCAGCCTC	0.398																																																1	Substitution - Missense(1)	kidney(1)											84	82	83					7																	121719654		2203	4300	6503	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2393A>C	7.37:g.121719654T>G	ENSP00000377040:p.Glu798Ala		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.270073	0.40194	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.74	4.57	0.56435	.	0.138969	0.64402	D	0.000004	T	0.49541	0.1563	L	0.48174	1.505	0.48901	D	0.999723	B	0.25105	0.118	B	0.26310	0.068	T	0.41251	-0.9519	9	0.35671	T	0.21	.	10.6991	0.45915	0.1424:0.0:0.0:0.8576	.	798	Q9UDR5	AASS_HUMAN	A	798	.	ENSP00000377040:E798A	E	-	2	0	AASS	121506890	0.989000	0.36119	0.541000	0.28102	0.646000	0.38490	2.290000	0.43531	0.972000	0.38314	0.533000	0.62120	GAA		0.398	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		G	121719654	T	G	121719654	3	3	607	1	0	0	0	0	1	0	0	0	24	1783	62	5	403	5	AASS	7	121719654	Missense_Mutation	SNP	T	TCGA-CZ-5987-01A-11D-1669-08	28874758	121719654	37419009	23	33286											
PRDM14	63978	broad.mit.edu	37	8	70982083	70982083	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr8:70982083G>A	ENST00000276594.2	-	2	214	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	5					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.R5W(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCACTTGGCCGGGGTAGAGCC	0.701																																					NSCLC(129;99 1813 5906 40656 46114)											1	Substitution - Missense(1)	kidney(1)											11	12	12					8																	70982083		2121	4256	6377	SO:0001583	missense	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.13C>T	8.37:g.70982083G>A	ENSP00000276594:p.Arg5Trp		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424933	0.43020	.	.	ENSG00000147596	ENST00000276594;ENST00000426346	T	0.11712	2.75	5.34	0.828	0.18841	.	1.002020	0.08052	N	0.996846	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39165	-0.9627	10	0.66056	D	0.02	1.328	5.9723	0.19359	0.1873:0.2974:0.5153:0.0	.	5	Q9GZV8	PRD14_HUMAN	W	5	ENSP00000276594:R5W	ENSP00000276594:R5W	R	-	1	2	PRDM14	71144637	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.458000	0.21892	0.213000	0.20722	-0.886000	0.02939	CGG		0.701	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			A	70982083	G	A	70982083	3	1	607	1	0	0	0	0	1	0	0	0	12460	1115	39	1	1730	1	PRDM14	8	70982083	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08		70982083	75381939	24	33287											
LRRCC1	85444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	86048083	86048083	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr8:86048083A>G	ENST00000360375.3	+	14	2363	c.2214A>G	c.(2212-2214)atA>atG	p.I738M	LRRCC1_ENST00000414626.2_Missense_Mutation_p.I718M	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	738					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I718M(1)|p.I738M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GTATTCAAATAGAACTTCTCA	0.313																																																2	Substitution - Missense(2)	kidney(2)											77	76	76					8																	86048083		1826	4079	5905	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2214A>G	8.37:g.86048083A>G	ENSP00000353538:p.Ile738Met		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523786	0.44866	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.32988	1.43;1.43	5.91	2.07	0.26955	.	0.000000	0.45867	D	0.000327	T	0.40862	0.1134	L	0.53249	1.67	0.37285	D	0.908003	D;D;D;P	0.67145	0.993;0.993;0.996;0.575	D;P;D;B	0.64321	0.924;0.875;0.924;0.195	T	0.31833	-0.9929	10	0.40728	T	0.16	-25.4295	6.2433	0.20803	0.3905:0.2259:0.0:0.3836	.	645;718;645;738	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	M	738;718	ENSP00000353538:I738M;ENSP00000394695:I718M	ENSP00000353538:I738M	I	+	3	3	LRRCC1	86235335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.847000	0.27696	0.106000	0.17784	0.528000	0.53228	ATA		0.313	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		G	86048083	A	G	86048083	3	3	607	1	0	0	0	0	1	0	0	0	9028	410	15	3	2268	3	LRRCC1	8	86048083	Missense_Mutation	SNP	A	TCGA-CZ-5987-01A-11D-1669-08	15066000	86048083	60315939	25	33288											
DAPK1	1612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	90311963	90311963	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr9:90311963G>T	ENST00000408954.3	+	22	2790	c.2455G>T	c.(2455-2457)Gtg>Ttg	p.V819L	DAPK1_ENST00000472284.1_Missense_Mutation_p.V819L|DAPK1_ENST00000469640.2_Missense_Mutation_p.V819L|DAPK1_ENST00000358077.5_Missense_Mutation_p.V819L|DAPK1_ENST00000491893.1_Intron	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	819					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V819L(1)|p.V820L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGGAAATCCTGTGTATTTCTG	0.398									Chronic Lymphocytic Leukemia, Familial Clustering of																																							2	Substitution - Missense(2)	kidney(2)											275	264	268					9																	90311963		1956	4169	6125	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2455G>T	9.37:g.90311963G>T	ENSP00000386135:p.Val819Leu		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747411	0.49257	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.5	4.59	0.56863	.	0.268702	0.25735	N	0.028660	T	0.15478	0.0373	L	0.47716	1.5	0.46521	D	0.999088	B	0.23591	0.088	B	0.21151	0.033	T	0.02358	-1.1171	10	0.35671	T	0.21	.	10.9009	0.47051	0.1449:0.0:0.8551:0.0	.	819	P53355	DAPK1_HUMAN	L	819	ENSP00000350785:V819L;ENSP00000417076:V819L;ENSP00000418885:V819L;ENSP00000386135:V819L	ENSP00000350785:V819L	V	+	1	0	DAPK1	89501783	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.560000	0.73950	2.854000	0.98071	0.655000	0.94253	GTG		0.398	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		T	90311963	G	T	90311963	3	4	607	1	0	0	0	0	1	0	0	0	4237	1377	48	4	2537	4	DAPK1	9	90311963	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08		90311963	50901468	26	33289											
DENND1A	57706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	126143757	126143757	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr9:126143757G>T	ENST00000373624.2	-	22	3185	c.2984C>A	c.(2983-2985)cCa>cAa	p.P995Q	DENND1A_ENST00000394219.3_Missense_Mutation_p.P1006Q|DENND1A_ENST00000542603.1_Missense_Mutation_p.P780Q|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	995	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P995Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CACCGAGTCTGGGGCCGGGGC	0.652																																																1	Substitution - Missense(1)	kidney(1)											39	48	45					9																	126143757		2203	4300	6503	SO:0001583	missense	57706			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2984C>A	9.37:g.126143757G>T	ENSP00000362727:p.Pro995Gln		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347411	0.24426	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.21031	3.5;2.03;3.35	4.8	3.8	0.43715	.	0.099678	0.42964	D	0.000625	T	0.12518	0.0304	N	0.14661	0.345	0.80722	D	1	B;B;P;B	0.38250	0.013;0.013;0.624;0.025	B;B;B;B	0.34038	0.007;0.007;0.174;0.013	T	0.15723	-1.0427	10	0.33141	T	0.24	-0.4909	15.6467	0.77061	0.0:0.0:0.8532:0.1468	.	1006;996;995;858	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	Q	995;780;1006	ENSP00000362727:P995Q;ENSP00000437457:P780Q;ENSP00000377766:P1006Q	ENSP00000362727:P995Q	P	-	2	0	DENND1A	125183578	1.000000	0.71417	0.811000	0.32455	0.397000	0.30659	3.432000	0.52824	2.222000	0.72286	0.561000	0.74099	CCA		0.652	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		T	126143757	G	T	126143757	3	4	607	1	0	0	0	0	1	0	0	0	4428	1348	47	4	49	4	DENND1A	9	126143757	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	35831794	126143757	15069674	27	33290											
TUBAL3	79861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5435755	5435755	+	Missense_Mutation	SNP	T	T	C	rs181652174		TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr10:5435755T>C	ENST00000380419.3	-	4	1103	c.1066A>G	c.(1066-1068)Act>Gct	p.T356A	TUBAL3_ENST00000479328.1_Missense_Mutation_p.T316A	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	356					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.T356A(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TTGAAACCAGTTGGACACCAA	0.567																																																1	Substitution - Missense(1)	kidney(1)											85	78	80					10																	5435755		2203	4300	6503	SO:0001583	missense	79861			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1066A>G	10.37:g.5435755T>C	ENSP00000369784:p.Thr356Ala		B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	T	14.56	2.570685	0.45798	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	D;D	0.84370	-1.84;-1.84	4.41	3.26	0.37387	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.114770	0.40144	N	0.001170	D	0.94195	0.8137	H	0.97659	4.05	0.42341	D	0.992332	D;B	0.76494	0.999;0.229	D;B	0.79784	0.993;0.07	D	0.93875	0.7166	10	0.87932	D	0	.	9.3858	0.38342	0.0:0.0881:0.0:0.9119	.	316;356	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	A	356;316	ENSP00000369784:T356A;ENSP00000418799:T316A	ENSP00000369784:T356A	T	-	1	0	TUBAL3	5425755	1.000000	0.71417	0.990000	0.47175	0.058000	0.15608	6.178000	0.71968	0.805000	0.34159	0.528000	0.53228	ACT		0.567	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		C	5435755	T	C	5435755	3	2	607	1	0	0	0	0	1	0	0	0	16756	1725	60	3	278	3	TUBAL3	10	5435755	Missense_Mutation	SNP	T	TCGA-CZ-5987-01A-11D-1669-08		5435755	130098992	28	33291											
UBE2D1	7321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	60128479	60128479	+	Splice_Site	SNP	G	G	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr10:60128479G>T	ENST00000373910.4	+	7	625		c.e7-1			NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TGTATCTACAGATACAACAGA	0.264																																																1	Unknown(1)	kidney(1)											67	68	68					10																	60128479		2202	4295	6497	SO:0001630	splice_region_variant	7321			BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"Ubiquitin-conjugating enzymes E2"	12474	protein-coding gene	gene with protein product		602961	"stimulator of Fe transport", "ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.399-1G>T	10.37:g.60128479G>T			A6NLF6|A8K786	Splice_Site	SNP	ENST00000373910.4	37	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031721	0.54790	.	.	ENSG00000072401	ENST00000373910	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2D1	59798485	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.790000	0.99075	2.695000	0.91970	0.650000	0.86243	.		0.264	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	NM_003338	Intron	T	60128479	G	T	60128479	5	4	607	1	0	0	0	0	0	0	1	0	16853	956	33	4	424	4	UBE2D1	10	60128479	Splice_Site	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	54692724	60128479	75406268	29	33292											
PLCE1	51196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96058297	96058298	+	Frame_Shift_Ins	INS	-	-	C	rs3765524	byFrequency	TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr10:96058297_96058298insC	ENST00000371380.3	+	23	5564_5565	c.5329_5330insC	c.(5329-5331)accfs	p.T1777fs	PLCE1_ENST00000371375.1_Frame_Shift_Ins_p.T1469fs|PLCE1_ENST00000371385.3_Frame_Shift_Ins_p.T1469fs|PLCE1_ENST00000260766.3_Frame_Shift_Ins_p.T1777fs			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1777	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.		T -> I (in dbSNP:rs3765524). {ECO:0000269|PubMed:11022048, ECO:0000269|Ref.8}.		activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCAGAAACTGACCCAGCACACC	0.525																																																0																																										SO:0001589	frameshift_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5332dupC	10.37:g.96058300_96058300dupC	ENSP00000360431:p.Thr1777fs		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Frame_Shift_Ins	INS	ENST00000371380.3	37	CCDS41552.1																																																																																				0.525	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		C	96058298	-	C	96058297	7	5	607	1	0	1	1	0	0	0	0	0	12036	275	10	0	5705	0	PLCE1	10	96058297	Frame_Shift_Ins	INS	-	TCGA-CZ-5987-01A-11D-1669-08	35929818	96058297	39476450	30	33293											
FGFR2	2263	broad.mit.edu;hgsc.bcm.edu	37	10	123353230	123353230	+	Silent	SNP	C	C	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr10:123353230C>T	ENST00000358487.5	-	2	374	c.102G>A	c.(100-102)gaG>gaA	p.E34E	FGFR2_ENST00000351936.6_Silent_p.E34E|FGFR2_ENST00000356226.4_Silent_p.E34E|FGFR2_ENST00000369056.1_Silent_p.E34E|FGFR2_ENST00000346997.2_Silent_p.E34E|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Silent_p.E34E|FGFR2_ENST00000369061.4_Silent_p.E34E|FGFR2_ENST00000369059.1_Silent_p.E34E|FGFR2_ENST00000359354.2_Silent_p.E34E|FGFR2_ENST00000357555.5_Silent_p.E34E|FGFR2_ENST00000369060.4_Silent_p.E34E|FGFR2_ENST00000457416.2_Silent_p.E34E	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	34	Ig-like C2-type 1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.E34E(4)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TACCTTCTGGCTCTAATGTGG	0.483		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																														Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	4	Substitution - coding silent(4)	kidney(4)											95	85	88					10																	123353230		2203	4300	6503	SO:0001819	synonymous_variant	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.102G>A	10.37:g.123353230C>T			B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	CCDS31298.1																																																																																				0.483	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		T	123353230	C	T	123353230	2	4	607	1	0	0	0	0	0	0	0	1	5868	796	28	2		2	FGFR2	10	123353230	Silent	SNP	C	TCGA-CZ-5987-01A-11D-1669-08	27294933	123353230	12181517	31	33294											
CATSPER1	117144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65793079	65793079	+	Missense_Mutation	SNP	G	G	T	rs375184637		TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr11:65793079G>T	ENST00000312106.5	-	1	909	c.772C>A	c.(772-774)Cgt>Agt	p.R258S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	258	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.R258S(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GATATCCCACGCTGGTAGGAC	0.567																																																1	Substitution - Missense(1)	kidney(1)											123	106	111					11																	65793079		2201	4296	6497	SO:0001583	missense	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.772C>A	11.37:g.65793079G>T	ENSP00000309052:p.Arg258Ser		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	2.208	-0.381401	0.05000	.	.	ENSG00000175294	ENST00000312106	D	0.96745	-4.11	3.75	-2.16	0.07080	.	.	.	.	.	D	0.89171	0.6639	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77895	-0.2417	9	0.16420	T	0.52	.	4.966	0.14091	0.0911:0.4626:0.3167:0.1296	.	258	Q8NEC5	CTSR1_HUMAN	S	258	ENSP00000309052:R258S	ENSP00000309052:R258S	R	-	1	0	CATSPER1	65549655	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.154000	0.16343	-0.299000	0.08909	-0.714000	0.03626	CGT		0.567	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		T	65793079	G	T	65793079	3	4	607	1	0	0	0	0	1	0	0	0	2689	1087	38	4	1618	4	CATSPER1	11	65793079	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08		65793079	69213437	32	33295											
ACSM4	341392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7469736	7469736	+	Silent	SNP	C	C	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr12:7469736C>T	ENST00000399422.4	+	4	672	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	208					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.F208F(2)		endometrium(6)|kidney(1)|lung(14)	21						TTTGCAGATTCGCCTCTGAAG	0.483																																																2	Substitution - coding silent(2)	kidney(2)											60	62	61					12																	7469736		2053	4202	6255	SO:0001819	synonymous_variant	341392				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.624C>T	12.37:g.7469736C>T			A8MTI6	Silent	SNP	ENST00000399422.4	37	CCDS44825.1																																																																																				0.483	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		T	7469736	C	T	7469736	2	4	607	1	0	0	0	0	0	0	0	1	186	883	31	1		1	ACSM4	12	7469736	Silent	SNP	C	TCGA-CZ-5987-01A-11D-1669-08		7469736	126382159	33	33296											
PZP	5858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9322148	9322148	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr12:9322148G>A	ENST00000261336.2	-	16	1907	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Missense_Mutation_p.P496S	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	627					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P496S(1)|p.P627S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACATTGTCAGGAAAATTGGTG	0.418																																					Melanoma(125;1402 1695 4685 34487 38571)											2	Substitution - Missense(2)	kidney(2)											91	83	86					12																	9322148		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1879C>T	12.37:g.9322148G>A	ENSP00000261336:p.Pro627Ser		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	8.763	0.923987	0.18056	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.35789	1.5;1.29	3.34	1.4	0.22301	.	0.792994	0.10706	U	0.643461	T	0.23330	0.0564	N	0.25380	0.74	0.09310	N	1	B;B	0.21452	0.056;0.049	B;B	0.30251	0.113;0.016	T	0.34875	-0.9811	10	0.22109	T	0.4	.	4.3382	0.11097	0.1296:0.0:0.6466:0.2238	.	496;627	P20742-2;P20742	.;PZP_HUMAN	S	627;496	ENSP00000261336:P627S;ENSP00000371427:P496S	ENSP00000261336:P627S	P	-	1	0	PZP	9213415	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.000000	0.12993	0.199000	0.20427	0.563000	0.77884	CCT		0.418	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		A	9322148	G	A	9322148	3	1	607	1	0	0	0	0	1	0	0	0	12875	1174	41	2	2653	2	PZP	12	9322148	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	1852412	9322148	124529747	34	33297											
C12orf10	60314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53693593	53693593	+	Silent	SNP	C	C	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr12:53693593C>T	ENST00000267103.5	+	1	124	c.72C>T	c.(70-72)cgC>cgT	p.R24R	RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000549488.1_5'Flank|C12orf10_ENST00000548632.1_5'UTR	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	24					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R24R(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						CCCGGCACCGCATGCTCGGTC	0.657											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	kidney(1)											38	39	38					12																	53693593		2203	4299	6502	SO:0001819	synonymous_variant	60314			AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.72C>T	12.37:g.53693593C>T		994		Silent	SNP	ENST00000267103.5	37	CCDS31810.1																																																																																				0.657	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		T	53693593	C	T	53693593	2	4	607	1	0	0	0	0	0	0	0	1	1676	697	25	2		2	C12orf10	12	53693593	Silent	SNP	C	TCGA-CZ-5987-01A-11D-1669-08	44371445	53693593	80158302	35	33298											
ACACB	32	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109577276	109577276	+	Silent	SNP	C	C	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr12:109577276C>A	ENST00000338432.7	+	2	185	c.66C>A	c.(64-66)atC>atA	p.I22I	ACACB_ENST00000377848.3_Silent_p.I22I|ACACB_ENST00000377854.5_Silent_p.I22I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	22					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.I22I(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGTTAAAAATCTGGGGGAAAA	0.453																																																1	Substitution - coding silent(1)	kidney(1)											94	93	93					12																	109577276		2203	4300	6503	SO:0001819	synonymous_variant	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.66C>A	12.37:g.109577276C>A			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																				0.453	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		A	109577276	C	A	109577276	2	1	607	1	0	0	0	0	0	0	0	1	107	903	32	4		4	ACACB	12	109577276	Silent	SNP	C	TCGA-CZ-5987-01A-11D-1669-08	55883683	109577276	24274619	36	33299											
FAM48A	55578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	37593524	37593524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr13:37593524delA	ENST00000350612.6	-	22	2047	c.1827delT	c.(1825-1827)tttfs	p.F609fs	SUPT20H_ENST00000360252.4_Frame_Shift_Del_p.F610fs|SUPT20H_ENST00000464744.1_Frame_Shift_Del_p.F610fs|SUPT20H_ENST00000356185.3_Frame_Shift_Del_p.F610fs|SUPT20H_ENST00000475892.1_Frame_Shift_Del_p.F688fs	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	609					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										TTTTTAAACCAAATGGAACAC	0.254																																																0													75	86	83					13																	37593524		2201	4294	6495	SO:0001589	frameshift_variant	0			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1827delT	13.37:g.37593524delA	ENSP00000218894:p.Phe609fs		E7ER46|Q71RF3|Q9Y6A6	Frame_Shift_Del	DEL	ENST00000350612.6	37	CCDS31959.1																																																																																				0.254	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		-	37593524	A	-	37593524	7	5	607	1	0	1	0	1	0	0	0	0	5574	127	5	0	532	0	FAM48A	13	37593524	Frame_Shift_Del	DEL	A	TCGA-CZ-5987-01A-11D-1669-08		37593524	77576354	37	33300											
RYR3	6263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	34129174	34129174	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr15:34129174T>C	ENST00000389232.4	+	88	11706	c.11636T>C	c.(11635-11637)cTg>cCg	p.L3879P	RYR3_ENST00000415757.3_Missense_Mutation_p.L3874P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3879					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)	p.L3878P(1)		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)		GTGATGCTTCTGTCCCTCCTG	0.473																																																1	Substitution - Missense(1)	kidney(1)											140	136	137					15																	34129174		2076	4231	6307	SO:0001583	missense	6263				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.11636T>C	15.37:g.34129174T>C	ENSP00000373884:p.Leu3879Pro		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204182	0.58234	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	T	0.78003	-1.14	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000012	D	0.87176	0.6112	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88639	0.3174	10	0.87932	D	0	.	15.4836	0.75548	0.0:0.0:0.0:1.0	.	3874;3879	Q15413-2;Q15413	.;RYR3_HUMAN	P	3879;3875	ENSP00000373884:L3879P	ENSP00000354735:L3875P	L	+	2	0	RYR3	31916466	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.769000	0.85360	2.243000	0.73865	0.519000	0.50382	CTG		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			C	34129174	T	C	34129174	3	2	607	1	0	0	0	0	1	0	0	0	13776	1580	55	3	11986	3	RYR3	15	34129174	Missense_Mutation	SNP	T	TCGA-CZ-5987-01A-11D-1669-08		34129174	68402218	38	33301											
RYR3	6263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	34130917	34130917	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr15:34130917G>A	ENST00000389232.4	+	89	12806	c.12736G>A	c.(12736-12738)Gac>Aac	p.D4246N	RYR3_ENST00000415757.3_Missense_Mutation_p.D4241N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4246					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)	p.D4245N(1)		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)		TATCCATGATGACACTATGGA	0.507																																																1	Substitution - Missense(1)	kidney(1)											55	57	56					15																	34130917		2024	4186	6210	SO:0001583	missense	6263				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.12736G>A	15.37:g.34130917G>A	ENSP00000373884:p.Asp4246Asn		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934705	0.73442	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.94576	-3.46	5.44	5.44	0.79542	Ryanodine Receptor TM 4-6 (1);	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	M	0.64404	1.975	0.80722	D	1	D;D	0.71674	0.998;0.987	D;P	0.81914	0.995;0.9	D	0.95886	0.8903	10	0.39692	T	0.17	.	19.2631	0.93975	0.0:0.0:1.0:0.0	.	4241;4246	Q15413-2;Q15413	.;RYR3_HUMAN	N	4246;4242	ENSP00000373884:D4246N	ENSP00000354735:D4242N	D	+	1	0	RYR3	31918209	1.000000	0.71417	0.990000	0.47175	0.807000	0.45602	9.807000	0.99171	2.549000	0.85964	0.655000	0.94253	GAC		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			A	34130917	G	A	34130917	3	1	607	1	0	0	0	0	1	0	0	0	13776	1290	45	2	13090	2	RYR3	15	34130917	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	1743	34130917	68400475	39	33302											
IRX5	10265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	54966436	54966436	+	Silent	SNP	C	C	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr16:54966436C>A	ENST00000394636.4	+	2	613	c.276C>A	c.(274-276)ggC>ggA	p.G92G	IRX5_ENST00000560154.1_Intron|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Silent_p.G92G|IRX5_ENST00000558597.1_Silent_p.G26G			P78411	IRX5_HUMAN	iroquois homeobox 5	92					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.G92G(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACACACCCGGCATGGCGGGCT	0.652																																																1	Substitution - coding silent(1)	kidney(1)											43	49	47					16																	54966436		2197	4300	6497	SO:0001819	synonymous_variant	10265			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.276C>A	16.37:g.54966436C>A			H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	CCDS10751.1																																																																																				0.652	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			A	54966436	C	A	54966436	2	1	607	1	0	0	0	0	0	0	0	1	7849	697	25	4		4	IRX5	16	54966436	Silent	SNP	C	TCGA-CZ-5987-01A-11D-1669-08		54966436	35388317	40	33303											
CPNE7	27132	broad.mit.edu	37	16	89657660	89657660	+	Frame_Shift_Del	DEL	A	A	-	rs35731090	byFrequency	TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr16:89657660delA	ENST00000268720.5	+	15	1649	c.1519delA	c.(1519-1521)aaafs	p.K507fs	CPNE7_ENST00000319518.8_Frame_Shift_Del_p.K432fs	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	507	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.		K -> E (in dbSNP:rs35731090).		lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GAGCACCGGGAAAGCCTCTGT	0.687																																																0													14	17	16					16																	89657660		2178	4288	6466	SO:0001589	frameshift_variant	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1519delA	16.37:g.89657660delA	ENSP00000268720:p.Lys507fs			Frame_Shift_Del	DEL	ENST00000268720.5	37	CCDS10980.1																																																																																				0.687	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			-	89657660	A	-	89657660	7	5	607	1	0	1	0	1	0	0	0	0	3819	247	9	0	1577	0	CPNE7	16	89657660	Frame_Shift_Del	DEL	A	TCGA-CZ-5987-01A-11D-1669-08	34691224	89657660	697093	41	33304											
DNAH2	146754	broad.mit.edu;ucsc.edu	37	17	7721647	7721647	+	Missense_Mutation	SNP	C	C	T	rs529198153		TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr17:7721647C>T	ENST00000572933.1	+	69	11865	c.10405C>T	c.(10405-10407)Cgc>Tgc	p.R3469C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3469C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3469	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3469C(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTGTTGATGCGCATTGGCGA	0.567																																																1	Substitution - Missense(1)	kidney(1)											206	183	191					17																	7721647		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10405C>T	17.37:g.7721647C>T	ENSP00000458355:p.Arg3469Cys		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112980	0.20795	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23950	1.88	5.0	4.02	0.46733	.	0.066251	0.64402	D	0.000014	T	0.49881	0.1583	M	0.87456	2.885	0.80722	D	1	B;D	0.76494	0.372;0.999	B;P	0.61722	0.032;0.893	T	0.57300	-0.7835	10	0.87932	D	0	.	10.2581	0.43410	0.152:0.701:0.147:0.0	.	3430;3469	Q9P225-2;Q9P225	.;DYH2_HUMAN	C	3430;3469	ENSP00000373825:R3469C	ENSP00000353818:R3430C	R	+	1	0	DNAH2	7662372	0.975000	0.34042	0.984000	0.44739	0.142000	0.21351	2.266000	0.43320	1.323000	0.45263	0.655000	0.94253	CGC		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		T	7721647	C	T	7721647	3	4	607	1	0	0	0	0	1	0	0	0	4604	768	27	1	10675	1	DNAH2	17	7721647	Missense_Mutation	SNP	C	TCGA-CZ-5987-01A-11D-1669-08		7721647	73473563	42	33305											
SSH2	85464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27959837	27959837	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr17:27959837T>C	ENST00000269033.3	-	15	2445	c.2294A>G	c.(2293-2295)cAg>cGg	p.Q765R	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.Q792R	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	765					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Q765R(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGTTGAATCTGCCCAACTCC	0.473																																																1	Substitution - Missense(1)	kidney(1)											88	77	81					17																	27959837		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2294A>G	17.37:g.27959837T>C	ENSP00000269033:p.Gln765Arg		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102247	0.76983	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.35048	1.33;1.33	5.78	5.78	0.91487	.	0.234226	0.38492	N	0.001667	T	0.51075	0.1653	M	0.64997	1.995	0.80722	D	1	D;D	0.63046	0.992;0.986	P;P	0.57009	0.811;0.651	T	0.53493	-0.8431	10	0.66056	D	0.02	-12.0362	13.0748	0.59081	0.0:0.0:0.1424:0.8576	.	792;765	F5H527;Q76I76	.;SSH2_HUMAN	R	765;792	ENSP00000269033:Q765R;ENSP00000444743:Q792R	ENSP00000269033:Q765R	Q	-	2	0	SSH2	24983963	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	1.734000	0.38166	2.333000	0.79357	0.533000	0.62120	CAG		0.473	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		C	27959837	T	C	27959837	3	2	607	1	0	0	0	0	1	0	0	0	15190	1580	55	3	1981	3	SSH2	17	27959837	Missense_Mutation	SNP	T	TCGA-CZ-5987-01A-11D-1669-08	20238190	27959837	53235373	43	33306											
RAPGEFL1	51195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38340547	38340547	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr17:38340547G>C	ENST00000456989.2	+	3	274	c.228G>C	c.(226-228)ttG>ttC	p.L76F	RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.L21F|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.L21F|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.L70F			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	227	Gly-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L21F(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TCCATTTCTTGGACACCTACC	0.572																																					Esophageal Squamous(28;274 750 6870 14218 42203)											1	Substitution - Missense(1)	kidney(1)											90	103	99					17																	38340547		2203	4300	6503	SO:0001583	missense	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.228G>C	17.37:g.38340547G>C	ENSP00000394530:p.Leu76Phe			Missense_Mutation	SNP	ENST00000456989.2	37		.	.	.	.	.	.	.	.	.	.	G	29.8	5.036712	0.93630	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615;ENST00000541245;ENST00000538981	T;T;T;T;T;T;T	0.59772	1.35;0.99;1.35;0.24;1.35;1.35;0.99	5.47	5.47	0.80525	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.51477	D	0.000098	T	0.66066	0.2752	L	0.27053	0.805	0.53688	D	0.999979	D	0.71674	0.998	D	0.83275	0.996	T	0.68938	-0.5277	10	0.62326	D	0.03	.	16.8079	0.85710	0.0:0.0:1.0:0.0	.	227	Q9UHV5	RPGFL_HUMAN	F	76;21;70;21;226;21;58;21	ENSP00000394530:L76F;ENSP00000440226:L21F;ENSP00000438631:L70F;ENSP00000264644:L226F;ENSP00000408322:L21F;ENSP00000444646:L58F;ENSP00000441059:L21F	ENSP00000264644:L226F	L	+	3	2	RAPGEFL1	35594073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.581000	0.46077	2.549000	0.85964	0.655000	0.94253	TTG		0.572	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		C	38340547	G	C	38340547	3	2	607	1	0	0	0	0	1	0	0	0	13055	1339	47	4	65	4	RAPGEFL1	17	38340547	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	10380710	38340547	42854663	44	33307											
KRT37	8688	broad.mit.edu;hgsc.bcm.edu	37	17	39579096	39579096	+	Silent	SNP	G	G	A	rs559004919		TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr17:39579096G>A	ENST00000225550.3	-	3	665	c.666C>T	c.(664-666)gcC>gcT	p.A222A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	222	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.A222A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCTCCAGGTCGGCCTTGGCCA	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18443	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											69	60	64					17																	39579096		2203	4300	6503	SO:0001819	synonymous_variant	8688			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.666C>T	17.37:g.39579096G>A				Silent	SNP	ENST00000225550.3	37	CCDS32653.1																																																																																				0.662	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		A	39579096	G	A	39579096	2	1	607	1	0	0	0	0	0	0	0	1	8476	1103	39	1		1	KRT37	17	39579096	Silent	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	1238549	39579096	41616114	45	33308											
PRKCA	5578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	64731699	64731699	+	Silent	SNP	C	C	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr17:64731699C>T	ENST00000413366.3	+	10	1175	c.1149C>T	c.(1147-1149)tgC>tgT	p.C383C		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	383	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.C383C(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	ACGTGGAGTGCACCATGGTAG	0.522																																																1	Substitution - coding silent(1)	kidney(1)											247	200	216					17																	64731699		2203	4300	6503	SO:0001819	synonymous_variant	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1149C>T	17.37:g.64731699C>T			B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	CCDS11664.1																																																																																				0.522	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			T	64731699	C	T	64731699	2	4	607	1	0	0	0	0	0	0	0	1	12512	718	25	2		2	PRKCA	17	64731699	Silent	SNP	C	TCGA-CZ-5987-01A-11D-1669-08	25152603	64731699	16463511	46	33309											
KIF19	124602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72350319	72350319	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr17:72350319C>A	ENST00000389916.4	+	18	2465	c.2327C>A	c.(2326-2328)aCt>aAt	p.T776N	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	776					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.T776N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGATCCTGACTGGCACCAAG	0.662																																																1	Substitution - Missense(1)	kidney(1)											58	70	66					17																	72350319		2046	4188	6234	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2327C>A	17.37:g.72350319C>A	ENSP00000374566:p.Thr776Asn		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861418	0.32884	.	.	ENSG00000196169	ENST00000389916	T	0.70986	-0.53	5.06	4.09	0.47781	.	.	.	.	.	T	0.62684	0.2448	L	0.51422	1.61	0.09310	N	1	B	0.31125	0.309	B	0.22386	0.039	T	0.47058	-0.9146	9	0.18276	T	0.48	.	15.3735	0.74587	0.0:0.8597:0.1403:0.0	.	776	Q2TAC6	KIF19_HUMAN	N	776	ENSP00000374566:T776N	ENSP00000374566:T776N	T	+	2	0	KIF19	69861914	0.193000	0.23313	0.146000	0.22360	0.812000	0.45895	2.258000	0.43249	1.150000	0.42419	-0.232000	0.12228	ACT		0.662	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		A	72350319	C	A	72350319	3	1	607	1	0	0	0	0	1	0	0	0	8284	565	20	4	2397	4	KIF19	17	72350319	Missense_Mutation	SNP	C	TCGA-CZ-5987-01A-11D-1669-08	7618620	72350319	8844891	47	33310											
CDH7	1005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	63477170	63477170	+	Silent	SNP	C	C	T	rs143932384		TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr18:63477170C>T	ENST00000397968.2	+	3	867	c.441C>T	c.(439-441)aaC>aaT	p.N147N	CDH7_ENST00000536984.2_Silent_p.N147N|CDH7_ENST00000323011.3_Silent_p.N147N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	147	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N147N(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGGATATCAACGACAATGAAC	0.507																																																2	Substitution - coding silent(2)	kidney(2)						C	,	1,4405	2.1+/-5.4	0,1,2202	92	90	91		441,441	-7.7	0.8	18	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDH7	NM_004361.2,NM_033646.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	147/786,147/786	63477170	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.441C>T	18.37:g.63477170C>T			Q9H157	Silent	SNP	ENST00000397968.2	37	CCDS11993.1																																																																																				0.507	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		T	63477170	C	T	63477170	2	4	607	1	0	0	0	0	0	0	0	1	3117	535	19	1		1	CDH7	18	63477170	Silent	SNP	C	TCGA-CZ-5987-01A-11D-1669-08		63477170	14600078	48	33311											
REXO1	57455	hgsc.bcm.edu	37	19	1825928	1825930	+	In_Frame_Del	DEL	CTC	CTC	-	rs149465929|rs75443592|rs199696044	byFrequency	TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr19:1825928_1825930delCTC	ENST00000170168.4	-	3	2018_2020	c.1924_1926delGAG	c.(1924-1926)gagdel	p.E642del	REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000590531.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA|CTB-31O20.4_ENST00000593201.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	642						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCACTCTTCTCTTCCTTGGGG	0.606														1503	0.30012	0.2844	0.4135	5008	,	,		15520	0.3829		0.2087	False		,,,				2504	0.2495															0										1300,2964		203,894,1035						3.2	0		dbSNP_106	100	1727,6527		175,1377,2575	no	coding	REXO1	NM_020695.3		378,2271,3610	A1A1,A1R,RR		20.9232,30.4878,24.1812				3027,9491				SO:0001651	inframe_deletion	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1924_1926delGAG	19.37:g.1825928_1825930delCTC	ENSP00000170168:p.Glu642del		Q9ULT2	In_Frame_Del	DEL	ENST00000170168.4	37	CCDS32866.1																																																																																				0.606	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		-	1825930	CTC	-	1825928	7	5	607	1	0	1	0	1	0	0	0	0	13247	912	32	0	1795	0	REXO1	19	1825928	In_Frame_Del	DEL	CTC	TCGA-CZ-5987-01A-11D-1669-08		1825928	57303055	49	33312											
ZNF233	353355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44777290	44777290	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr19:44777290A>G	ENST00000391958.2	+	5	604	c.477A>G	c.(475-477)atA>atG	p.I159M	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I159M(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ACTATGTAATAAAGCTACAAG	0.433																																																1	Substitution - Missense(1)	kidney(1)											55	58	57					19																	44777290		2202	4299	6501	SO:0001583	missense	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.477A>G	19.37:g.44777290A>G	ENSP00000375820:p.Ile159Met		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	A	2.861	-0.236074	0.05944	.	.	ENSG00000159915	ENST00000391958;ENST00000544563;ENST00000280305	T	0.04654	3.58	2.73	-4.84	0.03151	.	.	.	.	.	T	0.01156	0.0038	N	0.00707	-1.245	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.44267	-0.9339	9	0.27082	T	0.32	1.3706	1.8339	0.03135	0.4717:0.1311:0.2675:0.1297	.	159	A6NK53	ZN233_HUMAN	M	159;80;80	ENSP00000375820:I159M	ENSP00000280305:I80M	I	+	3	3	ZNF233	49469130	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.011000	0.03652	-1.474000	0.01879	-0.476000	0.04901	ATA		0.433	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		G	44777290	A	G	44777290	3	3	607	1	0	0	0	0	1	0	0	0	17791	352	13	3	491	3	ZNF233	19	44777290	Missense_Mutation	SNP	A	TCGA-CZ-5987-01A-11D-1669-08	42951362	44777290	14351693	50	33313											
TRAPPC6A	79090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45666460	45666460	+	Missense_Mutation	SNP	G	G	A	rs146982912		TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr19:45666460G>A	ENST00000585934.1	-	6	488	c.470C>T	c.(469-471)cCg>cTg	p.P157L	TRAPPC6A_ENST00000006275.4_Missense_Mutation_p.P171L|TRAPPC6A_ENST00000588062.1_3'UTR|TRAPPC6A_ENST00000592647.1_3'UTR	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	157					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.P171L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		TTAGGATTTCGGAATCACCAC	0.637																																																1	Substitution - Missense(1)	kidney(1)							LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	105	82	90		512	0.5	0.5	19	dbSNP_134	90	0,8600		0,0,4300	no	missense	TRAPPC6A	NM_024108.1	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	171/174	45666460	2,13004	2203	4300	6503	SO:0001583	missense	79090			AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"Trafficking protein particle complex"	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.470C>T	19.37:g.45666460G>A	ENSP00000468612:p.Pro157Leu		K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Missense_Mutation	SNP	ENST00000585934.1	37	CCDS59397.1	.	.	.	.	.	.	.	.	.	.	g	7.357	0.624024	0.14193	4.54E-4	0.0	ENSG00000007255	ENST00000006275	T	0.39056	1.1	5.2	0.531	0.17108	NO signalling/Golgi transport  ligand-binding domain (1);	0.379950	0.26646	N	0.023232	T	0.20088	0.0483	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07252	-1.0782	10	0.35671	T	0.21	-4.2755	1.0595	0.01597	0.149:0.1752:0.1605:0.5153	.	157;171	O75865;O75865-2	TPC6A_HUMAN;.	L	171	ENSP00000006275:P171L	ENSP00000006275:P171L	P	-	2	0	TRAPPC6A	50358300	1.000000	0.71417	0.536000	0.28039	0.035000	0.12851	0.434000	0.21494	-0.264000	0.09365	-1.520000	0.00934	CCG		0.637	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	NM_024108		A	45666460	G	A	45666460	3	1	607	1	0	0	0	0	1	0	0	0	16468	1116	39	1	13	1	TRAPPC6A	19	45666460	Missense_Mutation	SNP	G	TCGA-CZ-5987-01A-11D-1669-08	889170	45666460	13462523	51	33314											
ESF1	51575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	13695697	13695697	+	Missense_Mutation	SNP	C	C	T	rs555521056		TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr20:13695697C>T	ENST00000202816.1	-	14	2487	c.2380G>A	c.(2380-2382)Gcc>Acc	p.A794T		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	794	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A794T(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTTTGCCGGGCCTTCTCCTCA	0.413																																																1	Substitution - Missense(1)	kidney(1)											176	169	172					20																	13695697		2203	4300	6503	SO:0001583	missense	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2380G>A	20.37:g.13695697C>T	ENSP00000202816:p.Ala794Thr		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321144	0.81580	.	.	ENSG00000089048	ENST00000202816	T	0.68025	-0.3	6.05	6.05	0.98169	.	0.144836	0.44483	D	0.000450	T	0.64136	0.2571	L	0.60455	1.87	0.42344	D	0.992345	P	0.41366	0.747	B	0.37650	0.255	T	0.60954	-0.7160	10	0.14252	T	0.57	-3.0071	20.6013	0.99457	0.0:1.0:0.0:0.0	.	794	Q9H501	ESF1_HUMAN	T	794	ENSP00000202816:A794T	ENSP00000202816:A794T	A	-	1	0	ESF1	13643697	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.094000	0.57721	2.878000	0.98634	0.650000	0.86243	GCC		0.413	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		T	13695697	C	T	13695697	3	4	607	1	0	0	0	0	1	0	0	0	5253	739	26	2	179	2	ESF1	20	13695697	Missense_Mutation	SNP	C	TCGA-CZ-5987-01A-11D-1669-08		13695697	49329823	52	33315											
SLA2	84174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	35261962	35261962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr20:35261962delC	ENST00000262866.4	-	4	684	c.262delG	c.(262-264)gccfs	p.A88fs	SLA2_ENST00000360672.2_Frame_Shift_Del_p.A88fs	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	88	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GAGACTTTGGCCACGTGGACG	0.597																																					Ovarian(59;720 1165 26994 46188 51693)											0													127	110	115					20																	35261962		2203	4300	6503	SO:0001589	frameshift_variant	84174			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.262delG	20.37:g.35261962delC	ENSP00000262866:p.Ala88fs		A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Frame_Shift_Del	DEL	ENST00000262866.4	37	CCDS13282.1																																																																																				0.597	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077		-	35261962	C	-	35261962	7	5	607	1	0	1	0	1	0	0	0	0	14370	739	26	0	543	0	SLA2	20	35261962	Frame_Shift_Del	DEL	C	TCGA-CZ-5987-01A-11D-1669-08	21566265	35261962	27763558	53	33316											
CDH22	64405	broad.mit.edu;hgsc.bcm.edu	37	20	44806600	44806600	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr20:44806600C>T	ENST00000372262.3	-	10	2300	c.1900G>A	c.(1900-1902)Gtt>Att	p.V634I	CDH22_ENST00000537909.1_Missense_Mutation_p.V634I	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	634					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V634I(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGGATGAGAACGCAGACCAAG	0.652																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											59	53	55					20																	44806600		2203	4300	6503	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1900G>A	20.37:g.44806600C>T	ENSP00000361336:p.Val634Ile		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	2.424	-0.332413	0.05314	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.36157	1.27;1.27	4.43	2.33	0.28932	.	0.213481	0.40640	N	0.001041	T	0.15089	0.0364	N	0.11064	0.09	0.34914	D	0.747784	B	0.18968	0.032	B	0.10450	0.005	T	0.27434	-1.0074	10	0.02654	T	1	.	9.8426	0.41008	0.0:0.7982:0.0:0.2018	.	634	Q9UJ99	CAD22_HUMAN	I	634	ENSP00000361336:V634I;ENSP00000437790:V634I	ENSP00000361336:V634I	V	-	1	0	CDH22	44240007	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	0.691000	0.25467	1.092000	0.41356	-0.140000	0.14226	GTT		0.652	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		T	44806600	C	T	44806600	3	4	607	1	0	0	0	0	1	0	0	0	3109	536	19	1	594	1	CDH22	20	44806600	Missense_Mutation	SNP	C	TCGA-CZ-5987-01A-11D-1669-08	9544638	44806600	18218920	54	33317											
ARFGEF2	10564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47569395	47569395	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr20:47569395A>T	ENST00000371917.4	+	5	577	c.577A>T	c.(577-579)Att>Ttt	p.I193F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	193	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.I193F(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCTGAACGTCATTTTCACCCG	0.463																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											1	Substitution - Missense(1)	kidney(1)											113	101	105					20																	47569395		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.577A>T	20.37:g.47569395A>T	ENSP00000360985:p.Ile193Phe		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	A	34	5.354568	0.95854	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.28666	1.6	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.71523	-0.4567	10	0.72032	D	0.01	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	193	Q9Y6D5	BIG2_HUMAN	F	193	ENSP00000360985:I193F	ENSP00000360985:I193F	I	+	1	0	ARFGEF2	47002802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.328000	0.96403	2.324000	0.78689	0.533000	0.62120	ATT		0.463	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		T	47569395	A	T	47569395	3	4	607	1	0	0	0	0	1	0	0	0	853	217	8	5	595	5	ARFGEF2	20	47569395	Missense_Mutation	SNP	A	TCGA-CZ-5987-01A-11D-1669-08	2762795	47569395	15456125	55	33318											
THOC5	8563	hgsc.bcm.edu;ucsc.edu	37	22	29914993	29914997	+	Splice_Site	DEL	ACCTA	ACCTA	-			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	ACCTA	ACCTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chr22:29914993_29914997delACCTA	ENST00000490103.1	-	15	1609_1612	c.1487_1490delTAGGT	c.(1486-1491)ctaggt>ct	p.LG496fs	THOC5_ENST00000397871.1_Splice_Site_p.LG496fs|THOC5_ENST00000397872.1_Splice_Site_p.LG496fs|THOC5_ENST00000397873.2_Splice_Site_p.LG496fs|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	496					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATCAGCTTACCTAGGGATGCAAA	0.507																																																0																																										SO:0001630	splice_region_variant	8563			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1489+1TAGGT>-	22.37:g.29914993_29914997delACCTA			O60839|Q9UPZ5	Frame_Shift_Del	DEL	ENST00000490103.1	37	CCDS13859.1																																																																																				0.507	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Frame_Shift_Del	-	29914997	ACCTA	-	29914993	8	5	607	1	0	1	0	1	0	0	1	0	15873	405	14	0	584	0	THOC5	22	29914993	Splice_Site	DEL	ACCTA	TCGA-CZ-5987-01A-11D-1669-08		29914993	21389573	56	33319											
TEX11	56159	broad.mit.edu	37	X	69871299	69871299	+	Splice_Site	SNP	C	C	A			TCGA-CZ-5987-01A-11D-1669-08	TCGA-CZ-5987-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84a1a8d2-54c6-4771-9092-27c5f7fc4e5c	a36b2e09-a18e-4b92-ba23-cb501698161c	g.chrX:69871299C>A	ENST00000395889.2	-	18	1684		c.e18+1		TEX11_ENST00000374320.2_Splice_Site|TEX11_ENST00000374333.2_Splice_Site|TEX11_ENST00000344304.3_Splice_Site	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11						chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.?(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAAATTTATACCTCTTTCAGA	0.333																																																1	Unknown(1)	kidney(1)											33	31	32					X																	69871299		2203	4299	6502	SO:0001630	splice_region_variant	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1528+1G>T	X.37:g.69871299C>A			A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Splice_Site	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773878	0.16051	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	2.98	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.32259	N	0.570379	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4115	0.16351	0.0:0.83:0.0:0.17	.	.	.	.	.	-1	.	.	.	-	.	.	TEX11	69788024	1.000000	0.71417	0.206000	0.23566	0.071000	0.16799	2.278000	0.43426	0.438000	0.26450	0.513000	0.50165	.		0.333	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		Intron	A	69871299	C	A	69871299	5	1	607	1	0	0	0	0	0	0	1	0	15779	521	18	4	1349	4	TEX11	23	69871299	Splice_Site	SNP	C	TCGA-CZ-5987-01A-11D-1669-08		69871299	85399261	57	33320											
KIAA0754	643314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39877862	39877862	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:39877862A>C	ENST00000530275.1	+	1	1712	c.1517A>C	c.(1516-1518)aAt>aCt	p.N506T	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	506										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTGAGGGGAATGGTGAGGAG	0.438																																																0													207	199	201					1																	39877862		1914	4142	6056	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1517A>C	1.37:g.39877862A>C	ENSP00000431179:p.Asn506Thr		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	A	12.31	1.899278	0.33535	.	.	ENSG00000255103	ENST00000530275	D	0.86230	-2.09	5.41	1.89	0.25635	.	.	.	.	.	D	0.84424	0.5469	N	0.24115	0.695	0.09310	N	1	D	0.54964	0.969	P	0.57468	0.821	T	0.73550	-0.3947	9	0.87932	D	0	.	6.3669	0.21459	0.7148:0.0:0.2852:0.0	.	506	O94854	K0754_HUMAN	T	506	ENSP00000431179:N506T	ENSP00000431179:N506T	N	+	2	0	RP4-562N20.1	39650449	0.641000	0.27251	0.872000	0.34217	0.925000	0.55904	2.712000	0.47186	0.373000	0.24621	0.533000	0.62120	AAT		0.438	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		C	39877862	A	C	39877862	3	2	608	1	0	0	0	0	1	0	0	0	8194	101	4	5	1927	5	KIAA0754	1	39877862	Missense_Mutation	SNP	A	TCGA-CZ-5988-01A-11D-1669-08		39877862	209372759	1	33321											
BCAR3	8412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94032907	94032907	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:94032907T>C	ENST00000370244.1	-	13	2516	c.2228A>G	c.(2227-2229)cAt>cGt	p.H743R	BCAR3_ENST00000370243.1_Missense_Mutation_p.H743R|BCAR3_ENST00000260502.6_Missense_Mutation_p.H743R|BCAR3_ENST00000539242.1_Missense_Mutation_p.H419R|BCAR3_ENST00000370247.3_Missense_Mutation_p.H652R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	743	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.H743R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGTTGCCAAATGGTTCAGCAT	0.512																																																1	Substitution - Missense(1)	kidney(1)											170	143	152					1																	94032907		2203	4300	6503	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2228A>G	1.37:g.94032907T>C	ENSP00000359264:p.His743Arg		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	CCDS745.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498135	0.85069	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.85	5.85	0.93711	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.047473	0.85682	D	0.000000	T	0.51770	0.1694	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59268	-0.7486	10	0.87932	D	0	-19.5773	16.2303	0.82332	0.0:0.0:0.0:1.0	.	743;652	O75815;Q5TEW3	BCAR3_HUMAN;.	R	652;743;743;743;419	ENSP00000359267:H652R;ENSP00000260502:H743R;ENSP00000359264:H743R;ENSP00000359263:H743R;ENSP00000441343:H419R	ENSP00000260502:H743R	H	-	2	0	BCAR3	93805495	1.000000	0.71417	0.941000	0.38009	0.797000	0.45037	7.671000	0.83941	2.233000	0.73108	0.533000	0.62120	CAT		0.512	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			C	94032907	T	C	94032907	3	2	608	1	0	0	0	0	1	0	0	0	1349	1464	51	3	257	3	BCAR3	1	94032907	Missense_Mutation	SNP	T	TCGA-CZ-5988-01A-11D-1669-08	54155045	94032907	155217714	2	33322											
SEMA6C	10500	broad.mit.edu;hgsc.bcm.edu	37	1	151105698	151105698	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:151105698C>T	ENST00000341697.3	-	19	3746	c.2055G>A	c.(2053-2055)ccG>ccA	p.P685P	RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	685					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P685P(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCCGGAGGCGGCAGGAAGG	0.771																																																1	Substitution - coding silent(1)	kidney(1)											5	8	7					1																	151105698		1996	3892	5888	SO:0001819	synonymous_variant	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.2055G>A	1.37:g.151105698C>T			D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	37	CCDS984.1																																																																																				0.771	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		T	151105698	C	T	151105698	2	4	608	1	0	0	0	0	0	0	0	1	14047	755	27	1		1	SEMA6C	1	151105698	Silent	SNP	C	TCGA-CZ-5988-01A-11D-1669-08	57072791	151105698	98144923	3	33323											
ADAR	103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154574192	154574192	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:154574192T>A	ENST00000368474.4	-	2	1125	c.926A>T	c.(925-927)aAt>aTt	p.N309I	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.N352I|ADAR_ENST00000368471.3_Missense_Mutation_p.N14I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	309					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.N309I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTCAGACACATTGAAGAGATA	0.453																																																1	Substitution - Missense(1)	kidney(1)											92	94	93					1																	154574192		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.926A>T	1.37:g.154574192T>A	ENSP00000357459:p.Asn309Ile		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247677	0.59103	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.45	2.04	0.26737	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (3);	0.655353	0.16143	N	0.227655	T	0.44829	0.1312	L	0.50333	1.59	0.09310	N	0.999999	P;P;D	0.58970	0.896;0.896;0.984	P;P;P	0.57846	0.653;0.653;0.828	T	0.33085	-0.9882	10	0.87932	D	0	-4.948	4.2115	0.10514	0.0:0.2296:0.1765:0.5939	.	309;309;309	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	I	352;309;14;304	ENSP00000292205:N352I;ENSP00000357459:N309I;ENSP00000357456:N14I;ENSP00000431794:N304I	ENSP00000292205:N352I	N	-	2	0	ADAR	152840816	0.000000	0.05858	0.024000	0.17045	0.944000	0.59088	0.748000	0.26305	0.303000	0.22785	0.402000	0.26972	AAT		0.453	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		A	154574192	T	A	154574192	3	1	608	1	0	0	0	0	1	0	0	0	281	1493	52	5	2810	5	ADAR	1	154574192	Missense_Mutation	SNP	T	TCGA-CZ-5988-01A-11D-1669-08	3468494	154574192	94676429	4	33324											
OR6N1	128372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158735823	158735823	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:158735823G>A	ENST00000335094.2	-	1	669	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S217F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CTGCACATAGGAGCAGAGGAT	0.493																																																1	Substitution - Missense(1)	kidney(1)											121	122	122					1																	158735823		2203	4300	6503	SO:0001583	missense	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.650C>T	1.37:g.158735823G>A	ENSP00000335535:p.Ser217Phe		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159541	0.57368	.	.	ENSG00000197403	ENST00000335094	T	0.42513	0.97	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000326	T	0.67683	0.2919	M	0.91768	3.24	0.49582	D	0.999807	D	0.89917	1.0	D	0.91635	0.999	T	0.76132	-0.3071	10	0.87932	D	0	-25.1408	16.9793	0.86323	0.0:0.0:1.0:0.0	.	217	Q8NGY5	OR6N1_HUMAN	F	217	ENSP00000335535:S217F	ENSP00000335535:S217F	S	-	2	0	OR6N1	157002447	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	6.441000	0.73439	2.513000	0.84729	0.655000	0.94253	TCC		0.493	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		A	158735823	G	A	158735823	3	1	608	1	0	0	0	0	1	0	0	0	11208	1174	41	2	291	2	OR6N1	1	158735823	Missense_Mutation	SNP	G	TCGA-CZ-5988-01A-11D-1669-08	4161631	158735823	90514798	5	33325											
OR2G2	81470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247752396	247752396	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:247752396C>T	ENST00000320065.1	+	1	735	c.735C>T	c.(733-735)ttC>ttT	p.F245F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F245F(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGACCTGCTTCTCCCACCTGa	0.507																																																1	Substitution - coding silent(1)	kidney(1)											144	128	134					1																	247752396		2203	4300	6503	SO:0001819	synonymous_variant	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.735C>T	1.37:g.247752396C>T			Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	CCDS31092.1																																																																																				0.507	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			T	247752396	C	T	247752396	2	4	608	1	0	0	0	0	0	0	0	1	11000	912	32	2		2	OR2G2	1	247752396	Silent	SNP	C	TCGA-CZ-5988-01A-11D-1669-08	89016573	247752396	1498225	6	33326											
ASB3	100302652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	53955964	53955964	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:53955964T>G	ENST00000263634.3	-	5	623	c.489A>C	c.(487-489)aaA>aaC	p.K163N	GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.K90N|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.K201N|ASB3_ENST00000406625.2_Missense_Mutation_p.K198N|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.K90N|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough									p.K163N(1)									TAAGAAGCAATTTTATGATCT	0.338																																																1	Substitution - Missense(1)	kidney(1)											110	106	107					2																	53955964		2202	4300	6502	SO:0001583	missense	51130				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.489A>C	2.37:g.53955964T>G	ENSP00000263634:p.Lys163Asn			Missense_Mutation	SNP	ENST00000263634.3	37	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.77|15.77	2.932753|2.932753	0.52866|0.52866	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000406053|ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846	.|T;T;T;T;T	.|0.69306	.|-0.39;-0.39;-0.39;-0.39;-0.39	5.46|5.46	3.1|3.1	0.35709|0.35709	.|Ankyrin repeat-containing domain (4);	.|0.403382	.|0.29900	.|N	.|0.010902	T|T	0.66973|0.66973	0.2844|0.2844	L|L	0.40543|0.40543	1.245|1.245	.|0.29825	.|N	.|0.830488	.|D;P	.|0.56287	.|0.975;0.87	.|P;P	.|0.58077	.|0.832;0.724	T|T	0.72043|0.72043	-0.4409|-0.4409	4|9	.|0.45353	.|T	.|0.12	.|.	7.9645|7.9645	0.30091|0.30091	0.0:0.2268:0.0:0.7732|0.0:0.2268:0.0:0.7732	.|.	.|198;163	.|Q2TAI4;Q9Y575	.|.;ASB3_HUMAN	L|N	156|163;198;90;90;201	.|ENSP00000263634:K163N;ENSP00000385085:K198N;ENSP00000384728:K90N;ENSP00000378206:K90N;ENSP00000313756:K201N	.|ENSP00000263634:K163N	I|K	-|-	1|3	0|2	ASB3|ASB3	53809468|53809468	0.938000|0.938000	0.31826|0.31826	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.671000|0.671000	0.25172|0.25172	0.466000|0.466000	0.27193|0.27193	0.533000|0.533000	0.62120|0.62120	ATT|AAA		0.338	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			G	53955964	T	G	53955964	3	3	608	1	0	0	0	0	1	0	0	0	1024	1490	52	5	1091	5	ASB3	2	53955964	Missense_Mutation	SNP	T	TCGA-CZ-5988-01A-11D-1669-08		53955964	189243409	7	33327											
SPTBN1	6711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	54870209	54870209	+	Silent	SNP	T	T	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:54870209T>C	ENST00000356805.4	+	19	4229	c.3948T>C	c.(3946-3948)caT>caC	p.H1316H	SPTBN1_ENST00000333896.5_Silent_p.H1303H	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1316					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.H1316H(1)|p.H1303H(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGTTGAAGCATCAAGCATTTA	0.418																																																2	Substitution - coding silent(2)	kidney(2)											105	105	105					2																	54870209		2203	4300	6503	SO:0001819	synonymous_variant	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3948T>C	2.37:g.54870209T>C			B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	CCDS33198.1																																																																																				0.418	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			C	54870209	T	C	54870209	2	2	608	1	0	0	0	0	0	0	0	1	15124	1432	50	3		3	SPTBN1	2	54870209	Silent	SNP	T	TCGA-CZ-5988-01A-11D-1669-08	914245	54870209	188329164	8	33328											
CNNM3	26505	hgsc.bcm.edu;ucsc.edu	37	2	97492576	97492576	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:97492576delC	ENST00000305510.3	+	3	1404	c.1376delC	c.(1375-1377)accfs	p.T459fs	CNNM3_ENST00000377060.3_Frame_Shift_Del_p.T411fs|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	459					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TTAGGAGACACCGTGGTGAAG	0.532																																																0													163	153	156					2																	97492576		2203	4300	6503	SO:0001589	frameshift_variant	26505			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"cyclin M3"	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1376delC	2.37:g.97492576delC	ENSP00000305449:p.Thr459fs		B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Frame_Shift_Del	DEL	ENST00000305510.3	37	CCDS2025.1																																																																																				0.532	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		-	97492576	C	-	97492576	7	5	608	1	0	1	0	1	0	0	0	0	3616	507	18	0	1386	0	CNNM3	2	97492576	Frame_Shift_Del	DEL	C	TCGA-CZ-5988-01A-11D-1669-08	42622367	97492576	145706797	9	33329											
SULT1C3	442038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	108872055	108872055	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:108872055G>A	ENST00000329106.2	+	4	427	c.427G>A	c.(427-429)Gat>Aat	p.D143N	SULT1C3_ENST00000376700.1_Missense_Mutation_p.D143N	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	143					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)	p.D143N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAATCCCAAGGATTGCCTGGT	0.428																																																1	Substitution - Missense(1)	kidney(1)											125	122	123					2																	108872055		2203	4300	6503	SO:0001583	missense	442038			BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.427G>A	2.37:g.108872055G>A	ENSP00000333310:p.Asp143Asn		Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454580	0.63290	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.03889	3.77;3.77	3.58	3.58	0.41010	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000014	T	0.38134	0.1029	H	0.99261	4.49	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.65841	-0.6070	10	0.87932	D	0	.	14.7244	0.69332	0.0:0.0:1.0:0.0	.	143	Q6IMI6	ST1C3_HUMAN	N	143	ENSP00000333310:D143N;ENSP00000365890:D143N	ENSP00000333310:D143N	D	+	1	0	SULT1C3	108238487	1.000000	0.71417	0.791000	0.31998	0.222000	0.24845	8.109000	0.89561	1.989000	0.58080	0.650000	0.86243	GAT		0.428	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		A	108872055	G	A	108872055	3	1	608	1	0	0	0	0	1	0	0	0	15383	1174	41	2	441	2	SULT1C3	2	108872055	Missense_Mutation	SNP	G	TCGA-CZ-5988-01A-11D-1669-08	11379479	108872055	134327318	10	33330											
ATF2	1386	broad.mit.edu;hgsc.bcm.edu	37	2	175957974	175957974	+	Missense_Mutation	SNP	G	G	C	rs372839325		TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:175957974G>C	ENST00000264110.2	-	12	1298	c.1000C>G	c.(1000-1002)Cca>Gca	p.P334A	ATF2_ENST00000409437.1_Missense_Mutation_p.P218A|ATF2_ENST00000538946.1_Missense_Mutation_p.P316A|ATF2_ENST00000426833.3_Missense_Mutation_p.P316A|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409635.1_Missense_Mutation_p.P276A|ATF2_ENST00000345739.5_Missense_Mutation_p.P276A|ATF2_ENST00000392544.1_Missense_Mutation_p.P334A|ATF2_ENST00000392543.2_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	334					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)	p.P334A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	TGGGTCTGTGGAGTTGTGTGA	0.418																																					Pancreas(17;87 705 4534 15538 30988)											1	Substitution - Missense(1)	kidney(1)						G	ALA/PRO	0,4406		0,0,2203	54	50	51		1000	5.7	1	2		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATF2	NM_001880.2	27	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	334/506	175957974	1,13005	2203	4300	6503	SO:0001583	missense	1386			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1000C>G	2.37:g.175957974G>C	ENSP00000264110:p.Pro334Ala		A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155203	0.57259	0.0	1.16E-4	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	T;T;T;T;T;T;T	0.80033	-1.31;0.25;-0.75;0.25;-1.31;-1.33;-0.77	5.67	5.67	0.87782	.	0.113246	0.64402	D	0.000012	T	0.79209	0.4407	L	0.59436	1.845	0.54753	D	0.999981	B;B;B;B	0.23591	0.088;0.055;0.031;0.02	B;B;B;B	0.21708	0.023;0.036;0.021;0.014	T	0.73350	-0.4010	10	0.26408	T	0.33	-42.1371	19.7806	0.96414	0.0:0.0:1.0:0.0	.	316;311;276;334	A4D7U4;B3KY57;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	A	334;276;311;218;276;334;316;316	ENSP00000264110:P334A;ENSP00000340576:P276A;ENSP00000386326:P218A;ENSP00000387093:P276A;ENSP00000376327:P334A;ENSP00000407911:P316A;ENSP00000437952:P316A	ENSP00000264110:P334A	P	-	1	0	ATF2	175666220	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.414000	0.97362	2.669000	0.90835	0.650000	0.86243	CCA		0.418	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		C	175957974	G	C	175957974	3	2	608	1	0	0	0	0	1	0	0	0	1080	1174	41	4	529	4	ATF2	2	175957974	Missense_Mutation	SNP	G	TCGA-CZ-5988-01A-11D-1669-08	67085919	175957974	67241399	11	33331											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179433486	179433486	+	Silent	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:179433486G>A	ENST00000591111.1	-	276	72674	c.72450C>T	c.(72448-72450)gcC>gcT	p.A24150A	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.A25791A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.A16851A|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.A23223A|TTN_ENST00000460472.2_Silent_p.A16726A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.A16918A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24150	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A16918A(1)|p.A23221A(1)|p.A16851A(1)|p.A16726A(1)|p.A23223A(1)		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)			CCAGATCTTTGGCAACTATTG	0.413																																																5	Substitution - coding silent(5)	kidney(5)											78	74	75					2																	179433486		1886	4104	5990	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72450C>T	2.37:g.179433486G>A			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179433486	G	A	179433486	2	1	608	1	0	0	0	0	0	0	0	1	16740	1335	47	2		2	TTN	2	179433486	Silent	SNP	G	TCGA-CZ-5988-01A-11D-1669-08	3475512	179433486	63765887	12	33332											
CCDC54	84692	hgsc.bcm.edu;ucsc.edu	37	3	107096611	107096612	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr3:107096611_107096612insTA	ENST00000261058.1	+	1	424_425	c.177_178insTA	c.(178-180)tatfs	p.Y60fs		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	60										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATGATGATAGTTATGACGGAAA	0.361																																																0																																										SO:0001589	frameshift_variant	84692			AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.178_179dupTA	3.37:g.107096612_107096613dupTA	ENSP00000261058:p.Tyr60fs		Q96A43	Frame_Shift_Ins	INS	ENST00000261058.1	37	CCDS2949.1																																																																																				0.361	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		TA	107096612	-	TA	107096611	7	5	608	1	0	1	1	0	0	0	0	0	2826	1722	60	0	179	0	CCDC54	3	107096611	Frame_Shift_Ins	INS	-	TCGA-CZ-5988-01A-11D-1669-08		107096611	90925819	13	33333											
COL6A6	131873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130293121	130293121	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr3:130293121C>G	ENST00000358511.6	+	7	3330	c.3299C>G	c.(3298-3300)aCa>aGa	p.T1100R	COL6A6_ENST00000453409.2_Missense_Mutation_p.T1100R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1100	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.T1100R(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGGATAAATACAGGTACCCCA	0.537																																																1	Substitution - Missense(1)	kidney(1)											88	93	91					3																	130293121		2029	4193	6222	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3299C>G	3.37:g.130293121C>G	ENSP00000351310:p.Thr1100Arg		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	1.107	-0.659482	0.03454	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.76968	-1.06;-1.06	5.28	4.39	0.52855	von Willebrand factor, type A (3);	0.554976	0.16847	N	0.197096	T	0.49915	0.1585	N	0.04260	-0.245	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.33854	-0.9852	10	0.12103	T	0.63	.	4.5227	0.11966	0.2376:0.5537:0.1279:0.0808	.	1100	A6NMZ7	CO6A6_HUMAN	R	1100	ENSP00000351310:T1100R;ENSP00000399236:T1100R	ENSP00000351310:T1100R	T	+	2	0	COL6A6	131775811	0.000000	0.05858	0.006000	0.13384	0.021000	0.10359	-0.101000	0.10973	2.630000	0.89119	0.655000	0.94253	ACA		0.537	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		G	130293121	C	G	130293121	3	3	608	1	0	0	0	0	1	0	0	0	3705	478	17	4	3325	4	COL6A6	3	130293121	Missense_Mutation	SNP	C	TCGA-CZ-5988-01A-11D-1669-08	23196510	130293121	67729309	14	33334											
NCAPG	64151	broad.mit.edu;hgsc.bcm.edu	37	4	17819616	17819616	+	Silent	SNP	C	C	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr4:17819616C>G	ENST00000251496.2	+	7	1199	c.1023C>G	c.(1021-1023)gcC>gcG	p.A341A		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	341					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A341A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATTGGTGTGCCCTTTGTGAAT	0.338																																																1	Substitution - coding silent(1)	kidney(1)											113	117	115					4																	17819616		2203	4300	6503	SO:0001819	synonymous_variant	64151			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1023C>G	4.37:g.17819616C>G			Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000251496.2	37	CCDS3424.1																																																																																				0.338	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		G	17819616	C	G	17819616	2	3	608	1	0	0	0	0	0	0	0	1	10209	610	22	4		4	NCAPG	4	17819616	Silent	SNP	C	TCGA-CZ-5988-01A-11D-1669-08		17819616	173334660	15	33335											
POLR2B	5431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57860916	57860916	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr4:57860916A>G	ENST00000381227.1	+	6	873	c.460A>G	c.(460-462)Att>Gtt	p.I154V	POLR2B_ENST00000441246.2_Missense_Mutation_p.I147V|POLR2B_ENST00000314595.5_Missense_Mutation_p.I154V|POLR2B_ENST00000431623.2_Missense_Mutation_p.I79V|snoU13_ENST00000459266.1_RNA			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	154					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.I154V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAAAATTCCAATTATGTTGCG	0.363																																																1	Substitution - Missense(1)	kidney(1)											68	72	71					4																	57860916		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.460A>G	4.37:g.57860916A>G	ENSP00000370625:p.Ile154Val		A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012620	0.54468	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.77	5.77	0.91146	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	N	0.25890	0.77	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.22880	0.042;0.042	T	0.45963	-0.9225	10	0.37606	T	0.19	.	16.0891	0.81080	1.0:0.0:0.0:0.0	.	79;154	C9J4M6;P30876	.;RPB2_HUMAN	V	154;79;147;154	ENSP00000370625:I154V;ENSP00000391096:I79V;ENSP00000391452:I147V;ENSP00000312735:I154V	ENSP00000312735:I154V	I	+	1	0	POLR2B	57555673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.411000	0.80078	2.208000	0.71279	0.455000	0.32223	ATT		0.363	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		G	57860916	A	G	57860916	3	3	608	1	0	0	0	0	1	0	0	0	12217	101	4	3	478	3	POLR2B	4	57860916	Missense_Mutation	SNP	A	TCGA-CZ-5988-01A-11D-1669-08	40041300	57860916	133293360	16	33336											
EXOSC9	5393	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	122722621	122722621	+	Silent	SNP	A	A	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr4:122722621A>G	ENST00000243498.5	+	1	150	c.42A>G	c.(40-42)ctA>ctG	p.L14L	EXOSC9_ENST00000379663.3_Silent_p.L14L|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000512454.1_5'Flank	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	14	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L14L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GCCGCTTCCTACTCCGTGCCA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											80	77	78					4																	122722621		2203	4300	6503	SO:0001819	synonymous_variant	5393			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.42A>G	4.37:g.122722621A>G			Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	ENST00000243498.5	37	CCDS3722.2																																																																																				0.602	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		G	122722621	A	G	122722621	2	3	608	1	0	0	0	0	0	0	0	1	5323	378	14	3		3	EXOSC9	4	122722621	Silent	SNP	A	TCGA-CZ-5988-01A-11D-1669-08	64861705	122722621	68431655	17	33337											
KLHL2	11275	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	166239048	166239048	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr4:166239048delA	ENST00000226725.6	+	14	1939	c.1680delA	c.(1678-1680)gtafs	p.V560fs	KLHL2_ENST00000538127.1_Frame_Shift_Del_p.V472fs|KLHL2_ENST00000514860.1_Frame_Shift_Del_p.V564fs|KLHL2_ENST00000421009.2_Frame_Shift_Del_p.V463fs|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Frame_Shift_Del_p.V394fs	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	560					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TGGCGTCAGTAGAATATTATA	0.378																																																0													168	164	165					4																	166239048		2203	4300	6503	SO:0001589	frameshift_variant	11275			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1680delA	4.37:g.166239048delA	ENSP00000226725:p.Val560fs		A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Frame_Shift_Del	DEL	ENST00000226725.6	37	CCDS34094.1																																																																																				0.378	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			-	166239048	A	-	166239048	7	5	608	1	0	1	0	1	0	0	0	0	8376	407	15	0	1776	0	KLHL2	4	166239048	Frame_Shift_Del	DEL	A	TCGA-CZ-5988-01A-11D-1669-08	43516427	166239048	24915228	18	33338											
FBXO4	26272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	41934379	41934379	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr5:41934379C>T	ENST00000281623.3	+	5	923	c.867C>T	c.(865-867)ttC>ttT	p.F289F	FBXO4_ENST00000509134.1_Silent_p.F289F|FBXO4_ENST00000296812.2_Silent_p.F289F	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	289					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.F289F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TAGATGGGTTCATCTATGTTG	0.358																																																1	Substitution - coding silent(1)	kidney(1)											136	133	134					5																	41934379		2203	4300	6503	SO:0001819	synonymous_variant	26272			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"F-boxes /  "other""	13583	protein-coding gene	gene with protein product		609090	"F-box only protein 4"			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.867C>T	5.37:g.41934379C>T			Q68CU8|Q86VT8|Q9UK98	Silent	SNP	ENST00000281623.3	37	CCDS3938.1																																																																																				0.358	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			T	41934379	C	T	41934379	2	4	608	1	0	0	0	0	0	0	0	1	5750	825	29	2		2	FBXO4	5	41934379	Silent	SNP	C	TCGA-CZ-5988-01A-11D-1669-08		41934379	138980881	19	33339											
MAST4	375449	broad.mit.edu	37	5	66438350	66438350	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr5:66438350A>T	ENST00000403625.2	+	21	3014	c.2719A>T	c.(2719-2721)Agg>Tgg	p.R907W	MAST4_ENST00000404260.3_Missense_Mutation_p.R910W|MAST4_ENST00000261569.7_Missense_Mutation_p.R713W|MAST4_ENST00000405643.1_Missense_Mutation_p.R728W|MAST4_ENST00000403666.1_Missense_Mutation_p.R718W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	910	AGC-kinase C-terminal.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R910W(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATGTTCACACAGGTTTTCAAA	0.428																																																1	Substitution - Missense(1)	kidney(1)											61	60	61					5																	66438350		1899	4119	6018	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2719A>T	5.37:g.66438350A>T	ENSP00000385727:p.Arg907Trp		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.04|12.04	1.818318|1.818318	0.32145|0.32145	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	.|T;T;T;T;T	.|0.71222	.|-0.52;-0.53;-0.55;-0.55;-0.53	5.78|5.78	0.304|0.304	0.15796|0.15796	.|AGC-kinase, C-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84488|0.84488	0.5483|0.5483	M|M	0.91354|0.91354	3.2|3.2	0.33616|0.33616	D|D	0.604249|0.604249	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	D|D	0.86770|0.86770	0.1972|0.1972	5|10	.|0.87932	.|D	.|0	-27.2622|-27.2622	10.3663|10.3663	0.44026|0.44026	0.4354:0.4543:0.0:0.1103|0.4354:0.4543:0.0:0.1103	.|.	.|728;910;713;718	.|E7EWQ5;O15021;O15021-2;O15021-3	.|.;MAST4_HUMAN;.;.	L|W	30|910;907;718;728;728;713;713	.|ENSP00000385048:R910W;ENSP00000385727:R907W;ENSP00000384313:R718W;ENSP00000384099:R728W;ENSP00000261569:R713W	.|ENSP00000261569:R713W	Q|R	+|+	2|1	0|2	MAST4|MAST4	66474106|66474106	0.328000|0.328000	0.24687|0.24687	0.447000|0.447000	0.26932|0.26932	0.003000|0.003000	0.03518|0.03518	0.930000|0.930000	0.28858|0.28858	-0.153000|-0.153000	0.11137|0.11137	-0.336000|-0.336000	0.08194|0.08194	CAG|AGG		0.428	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			T	66438350	A	T	66438350	3	4	608	1	0	0	0	0	1	0	0	0	9329	179	7	5	2931	5	MAST4	5	66438350	Missense_Mutation	SNP	A	TCGA-CZ-5988-01A-11D-1669-08	24503971	66438350	114476910	20	33340											
KIAA1244	57221	broad.mit.edu	37	6	138628466	138628466	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr6:138628466C>T	ENST00000251691.4	+	23	4071	c.3905C>T	c.(3904-3906)gCc>gTc	p.A1302V		NM_020340.4	NP_065073.3			KIAA1244									p.A1231V(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTGTTCAGTGCCCTGGAAACA	0.502																																																1	Substitution - Missense(1)	kidney(1)											222	213	216					6																	138628466		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3905C>T	6.37:g.138628466C>T	ENSP00000251691:p.Ala1302Val			Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	33	5.290843	0.95546	.	.	ENSG00000112379	ENST00000251691	T	0.04551	3.6	6.17	6.17	0.99709	Domain of unknown function DUF1981, SEC7 associated (1);	0.067323	0.64402	D	0.000016	T	0.05273	0.0140	N	0.16066	0.365	0.80722	D	1	D	0.56746	0.977	P	0.59703	0.862	T	0.60110	-0.7327	10	0.25106	T	0.35	-24.8163	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1302	Q5TH69	BIG3_HUMAN	V	1302	ENSP00000251691:A1302V	ENSP00000251691:A1302V	A	+	2	0	KIAA1244	138670159	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	7.538000	0.82048	2.941000	0.99782	0.655000	0.94253	GCC		0.502	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		T	138628466	C	T	138628466	3	4	608	1	0	0	0	0	1	0	0	0	8219	739	26	2	3995	2	KIAA1244	6	138628466	Missense_Mutation	SNP	C	TCGA-CZ-5988-01A-11D-1669-08		138628466	32486601	21	33341											
TBP	6908	hgsc.bcm.edu	37	6	170871085	170871085	+	Silent	SNP	G	G	A	rs566225355	byFrequency	TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr6:170871085G>A	ENST00000392092.2	+	3	540	c.261G>A	c.(259-261)caG>caA	p.Q87Q	TBP_ENST00000540980.1_Silent_p.Q67Q|TBP_ENST00000230354.6_Silent_p.Q87Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	87	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.617													G|||	12	0.00239617	0.0015	0.0029	5008	,	,		13588	0.005		0.002	False		,,,				2504	0.001															0																																										SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.261G>A	6.37:g.170871085G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																				0.617	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871085	G	A	170871085	2	1	608	1	0	0	0	0	0	0	0	1	15649	962	34	2		2	TBP	6	170871085	Silent	SNP	G	TCGA-CZ-5988-01A-11D-1669-08	32242619	170871085	243982	22	33342											
PON3	5446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	95019500	95019500	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr7:95019500T>A	ENST00000265627.5	-	3	177	c.167A>T	c.(166-168)gAt>gTt	p.D56V	PON3_ENST00000427422.1_Missense_Mutation_p.D56V|PON1_ENST00000542556.1_Intron|PON3_ENST00000475439.1_5'UTR|PON3_ENST00000451904.1_Missense_Mutation_p.D56V	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	56					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.D56V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	AGGAAGTATATCAATATCTTC	0.373																																																1	Substitution - Missense(1)	kidney(1)											202	212	209					7																	95019500		2203	4300	6503	SO:0001583	missense	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.167A>T	7.37:g.95019500T>A	ENSP00000265627:p.Asp56Val		A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	T	9.330	1.060209	0.19987	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.16743	2.32;2.32	4.93	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.159870	0.56097	D	0.000040	T	0.33059	0.0850	L	0.48174	1.505	0.80722	D	1	D;B	0.89917	1.0;0.129	D;B	0.85130	0.997;0.068	T	0.03103	-1.1072	10	0.72032	D	0.01	-16.6422	11.1608	0.48514	0.0:0.0:0.0:1.0	.	56;56	B4E2I0;Q15166	.;PON3_HUMAN	V	56	ENSP00000265627:D56V;ENSP00000413276:D56V	ENSP00000265627:D56V	D	-	2	0	PON3	94857436	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	3.603000	0.54074	2.215000	0.71742	0.460000	0.39030	GAT		0.373	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		A	95019500	T	A	95019500	3	1	608	1	0	0	0	0	1	0	0	0	12252	1435	50	5	925	5	PON3	7	95019500	Missense_Mutation	SNP	T	TCGA-CZ-5988-01A-11D-1669-08		95019500	64119163	23	33343											
SLC26A5	375611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	103048401	103048401	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr7:103048401A>G	ENST00000306312.3	-	8	1046	c.785T>C	c.(784-786)cTa>cCa	p.L262P	SLC26A5_ENST00000393723.1_Missense_Mutation_p.L262P|SLC26A5_ENST00000393735.2_Missense_Mutation_p.L262P|SLC26A5_ENST00000393727.1_Missense_Mutation_p.L262P|SLC26A5_ENST00000356767.4_Missense_Mutation_p.L262P|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.L262P|SLC26A5_ENST00000393729.1_Missense_Mutation_p.L225P|SLC26A5_ENST00000432958.2_Missense_Mutation_p.L262P|SLC26A5_ENST00000339444.6_Missense_Mutation_p.L262P	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	262					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.L262P(3)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCCGACGCCTAGGGAACACAC	0.443																																																3	Substitution - Missense(3)	kidney(3)											112	99	103					7																	103048401		2203	4300	6503	SO:0001583	missense	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.785T>C	7.37:g.103048401A>G	ENSP00000304783:p.Leu262Pro		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421486	0.83559	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.36	5.36	0.76844	Sulphate transporter (1);	0.150461	0.44483	D	0.000446	D	0.97324	0.9125	M	0.91354	3.2	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.993;0.996;0.991;0.988	D	0.98292	1.0514	10	0.87932	D	0	.	15.6584	0.77162	1.0:0.0:0.0:0.0	.	262;262;262;262;262	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	P	262;262;262;262;262;262;225;262;262	ENSP00000342396:L262P;ENSP00000349210:L262P;ENSP00000377336:L262P;ENSP00000304783:L262P;ENSP00000377331:L262P;ENSP00000389733:L262P;ENSP00000377330:L225P;ENSP00000377328:L262P;ENSP00000377324:L262P	ENSP00000304783:L262P	L	-	2	0	SLC26A5	102835637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.033000	0.88852	2.160000	0.67779	0.528000	0.53228	CTA		0.443	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		G	103048401	A	G	103048401	3	3	608	1	0	0	0	0	1	0	0	0	14526	420	15	3	1542	3	SLC26A5	7	103048401	Missense_Mutation	SNP	A	TCGA-CZ-5988-01A-11D-1669-08	8028901	103048401	56090262	24	33344											
PPP1R3A	5506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	113558913	113558913	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr7:113558913C>A	ENST00000284601.3	-	1	207	c.139G>T	c.(139-141)Gat>Tat	p.D47Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	47					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.D47Y(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGAAGAATCAGAACCTCGT	0.368																																																1	Substitution - Missense(1)	kidney(1)											83	81	82					7																	113558913		2203	4300	6503	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.139G>T	7.37:g.113558913C>A	ENSP00000284601:p.Asp47Tyr		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186447	0.57909	.	.	ENSG00000154415	ENST00000284601	T	0.17370	2.28	6.17	6.17	0.99709	.	0.607817	0.17550	N	0.170216	T	0.28366	0.0701	L	0.50333	1.59	0.27436	N	0.953879	D	0.57899	0.981	P	0.50231	0.635	T	0.05599	-1.0875	10	0.56958	D	0.05	-0.1211	17.0623	0.86550	0.1275:0.8725:0.0:0.0	.	47	Q16821	PPR3A_HUMAN	Y	47	ENSP00000284601:D47Y	ENSP00000284601:D47Y	D	-	1	0	PPP1R3A	113346149	0.532000	0.26346	1.000000	0.80357	0.998000	0.95712	2.154000	0.42291	2.941000	0.99782	0.655000	0.94253	GAT		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		A	113558913	C	A	113558913	3	1	608	1	0	0	0	0	1	0	0	0	12376	826	29	4	3245	4	PPP1R3A	7	113558913	Missense_Mutation	SNP	C	TCGA-CZ-5988-01A-11D-1669-08	10510512	113558913	45579750	25	33345											
NOM1	64434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	156752728	156752728	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr7:156752728G>T	ENST00000275820.3	+	4	1507	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	498	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D498Y(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CACCGAAAAAGATATTGAACT	0.388																																																1	Substitution - Missense(1)	kidney(1)											103	98	100					7																	156752728		2203	4300	6503	SO:0001583	missense	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1492G>T	7.37:g.156752728G>T	ENSP00000275820:p.Asp498Tyr		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430003	0.83776	.	.	ENSG00000146909	ENST00000275820	T	0.23552	1.9	4.93	4.93	0.64822	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	M	0.89601	3.045	0.80722	D	1	D	0.63880	0.993	D	0.70487	0.969	T	0.70073	-0.4972	10	0.72032	D	0.01	-34.6046	18.1947	0.89817	0.0:0.0:1.0:0.0	.	498	Q5C9Z4	NOM1_HUMAN	Y	498	ENSP00000275820:D498Y	ENSP00000275820:D498Y	D	+	1	0	NOM1	156445489	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.866000	0.92307	2.283000	0.76528	0.585000	0.79938	GAT		0.388	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		T	156752728	G	T	156752728	3	4	608	1	0	0	0	0	1	0	0	0	10532	942	33	4	1506	4	NOM1	7	156752728	Missense_Mutation	SNP	G	TCGA-CZ-5988-01A-11D-1669-08	43193815	156752728	2385935	26	33346											
TEX15	56154	broad.mit.edu;ucsc.edu	37	8	30700538	30700538	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr8:30700538G>A	ENST00000256246.2	-	1	6070	c.5996C>T	c.(5995-5997)gCa>gTa	p.A1999V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1999					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.A1999V(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTAAGGTCTGCAAATTCAGC	0.303																																																1	Substitution - Missense(1)	kidney(1)											35	37	36					8																	30700538		2201	4291	6492	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5996C>T	8.37:g.30700538G>A	ENSP00000256246:p.Ala1999Val			Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893726	0.72639	.	.	ENSG00000133863	ENST00000256246	T	0.22336	1.96	5.73	5.73	0.89815	.	0.226724	0.30593	N	0.009299	T	0.45316	0.1336	L	0.59436	1.845	0.38610	D	0.950885	D	0.89917	1.0	D	0.74674	0.984	T	0.40757	-0.9546	10	0.87932	D	0	.	18.6784	0.91537	0.0:0.0:1.0:0.0	.	1999	Q9BXT5	TEX15_HUMAN	V	1999	ENSP00000256246:A1999V	ENSP00000256246:A1999V	A	-	2	0	TEX15	30820080	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.553000	0.60753	2.718000	0.92993	0.585000	0.79938	GCA		0.303	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			A	30700538	G	A	30700538	3	1	608	1	0	0	0	0	1	0	0	0	15784	1319	46	2	2389	2	TEX15	8	30700538	Missense_Mutation	SNP	G	TCGA-CZ-5988-01A-11D-1669-08		30700538	115663484	27	33347											
PCSK5	5125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	78774010	78774010	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr9:78774010C>T	ENST00000545128.1	+	12	2080	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	PCSK5_ENST00000376767.3_Silent_p.I514I|PCSK5_ENST00000376752.4_Silent_p.I514I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	514					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.I514I(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATCACCATCACCCACCCCA	0.577																																																3	Substitution - coding silent(3)	kidney(3)											170	137	148					9																	78774010		2203	4300	6503	SO:0001819	synonymous_variant	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1542C>T	9.37:g.78774010C>T			F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	CCDS55320.1																																																																																				0.577	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	78774010	C	T	78774010	2	4	608	1	0	0	0	0	0	0	0	1	11605	816	29	2		2	PCSK5	9	78774010	Silent	SNP	C	TCGA-CZ-5988-01A-11D-1669-08		78774010	62439421	28	33348											
OR52J3	119679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5068193	5068193	+	Silent	SNP	T	T	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr11:5068193T>C	ENST00000380370.1	+	1	438	c.438T>C	c.(436-438)atT>atC	p.I146I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I146I(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTGGGCATTAGCATGTGCA	0.473																																																1	Substitution - coding silent(1)	kidney(1)											191	123	146					11																	5068193		2201	4298	6499	SO:0001819	synonymous_variant	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.438T>C	11.37:g.5068193T>C			Q6IFE4	Silent	SNP	ENST00000380370.1	37	CCDS31370.1																																																																																				0.473	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		C	5068193	T	C	5068193	2	2	608	1	0	0	0	0	0	0	0	1	11124	1742	61	3		3	OR52J3	11	5068193	Silent	SNP	T	TCGA-CZ-5988-01A-11D-1669-08		5068193	129938323	29	33349											
OR2AG2	338755	hgsc.bcm.edu;ucsc.edu	37	11	6789789	6789789	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr11:6789789delT	ENST00000338569.2	-	1	497	c.400delA	c.(400-402)accfs	p.T134fs		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	134						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)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCATGAGGGTCATGTATTTC	0.522																																																0													100	83	89					11																	6789789		2201	4296	6497	SO:0001589	frameshift_variant	338755			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.400delA	11.37:g.6789789delT	ENSP00000342697:p.Thr134fs			Frame_Shift_Del	DEL	ENST00000338569.2	37	CCDS31413.1																																																																																				0.522	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		-	6789789	T	-	6789789	7	5	608	1	0	1	0	1	0	0	0	0	10987	1667	58	0	554	0	OR2AG2	11	6789789	Frame_Shift_Del	DEL	T	TCGA-CZ-5988-01A-11D-1669-08	1721596	6789789	128216727	30	33350											
ATG2A	23130	broad.mit.edu;hgsc.bcm.edu	37	11	64681821	64681821	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr11:64681821C>T	ENST00000377264.3	-	2	435	c.323G>A	c.(322-324)cGc>cAc	p.R108H	ATG2A_ENST00000421419.2_Missense_Mutation_p.R108H	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	108					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.R108H(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGACCCCGGCGGGGCTGCAA	0.716																																																1	Substitution - Missense(1)	kidney(1)											14	16	15					11																	64681821		2196	4290	6486	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.323G>A	11.37:g.64681821C>T	ENSP00000366475:p.Arg108His		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	c	18.10	3.549000	0.65311	.	.	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	T;T	0.55760	0.5;0.5	4.07	3.16	0.36331	.	0.087495	0.44285	D	0.000468	T	0.58694	0.2140	L	0.59436	1.845	0.28411	N	0.918177	D	0.64830	0.994	P	0.58454	0.839	T	0.54139	-0.8338	10	0.72032	D	0.01	.	6.3586	0.21414	0.0:0.778:0.0:0.222	.	108	Q2TAZ0	ATG2A_HUMAN	H	108	ENSP00000410522:R108H;ENSP00000366475:R108H	ENSP00000227459:R108H	R	-	2	0	ATG2A	64438397	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.300000	0.33436	1.089000	0.41292	0.457000	0.33378	CGC		0.716	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		T	64681821	C	T	64681821	3	4	608	1	0	0	0	0	1	0	0	0	1093	768	27	1	5653	1	ATG2A	11	64681821	Missense_Mutation	SNP	C	TCGA-CZ-5988-01A-11D-1669-08	57892032	64681821	70324695	31	33351											
CEP164	22897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117263006	117263006	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr11:117263006C>T	ENST00000278935.3	+	18	2495	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	783	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.A783V(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TCATTGGAGGCCAAGCACCGG	0.607																																																1	Substitution - Missense(1)	kidney(1)											47	45	46					11																	117263006		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2348C>T	11.37:g.117263006C>T	ENSP00000278935:p.Ala783Val		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263752	0.23136	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.43294	0.95	4.66	3.6	0.41247	.	0.298004	0.24960	N	0.034227	T	0.44623	0.1302	L	0.27053	0.805	0.21290	N	0.999734	P;D;P;B	0.67145	0.58;0.996;0.573;0.386	B;D;B;B	0.77557	0.196;0.99;0.272;0.178	T	0.14337	-1.0476	10	0.39692	T	0.17	-6.5848	6.7507	0.23485	0.3653:0.4958:0.1388:0.0	.	757;557;783;786	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	V	783;757;664	ENSP00000278935:A783V	ENSP00000278935:A783V	A	+	2	0	CEP164	116768216	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	1.682000	0.37628	2.298000	0.77334	0.561000	0.74099	GCC		0.607	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		T	117263006	C	T	117263006	3	4	608	1	0	0	0	0	1	0	0	0	3251	739	26	2	2410	2	CEP164	11	117263006	Missense_Mutation	SNP	C	TCGA-CZ-5988-01A-11D-1669-08	52581185	117263006	17743510	32	33352											
SLITRK5	26050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	88329824	88329824	+	Silent	SNP	A	A	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr13:88329824A>G	ENST00000325089.6	+	2	2400	c.2181A>G	c.(2179-2181)ccA>ccG	p.P727P	SLITRK5_ENST00000400028.3_Silent_p.P486P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	727					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.P727P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCGGCCACCCACACGCGCACG	0.662																																																1	Substitution - coding silent(1)	kidney(1)											41	47	45					13																	88329824		2197	4291	6488	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2181A>G	13.37:g.88329824A>G			B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	CCDS9465.1																																																																																				0.662	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			G	88329824	A	G	88329824	2	3	608	1	0	0	0	0	0	0	0	1	14752	146	6	3		3	SLITRK5	13	88329824	Silent	SNP	A	TCGA-CZ-5988-01A-11D-1669-08		88329824	26840054	33	33353											
PTPN21	11099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	88983493	88983493	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr14:88983493T>C	ENST00000556564.1	-	3	577	c.293A>G	c.(292-294)tAt>tGt	p.Y98C	PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.Y98C	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	98	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.Y98C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACTCCAAAATAGACGGTAGG	0.428																																																1	Substitution - Missense(1)	kidney(1)											121	111	114					14																	88983493		2203	4300	6503	SO:0001583	missense	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.293A>G	14.37:g.88983493T>C	ENSP00000452414:p.Tyr98Cys			Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223834	0.39300	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.77229	-1.08;-1.08;-1.08	5.77	3.38	0.38709	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.077223	0.53938	D	0.000047	T	0.77638	0.4160	L	0.41573	1.285	0.38202	D	0.940215	P;D	0.55800	0.932;0.973	P;P	0.61800	0.729;0.894	T	0.76854	-0.2805	10	0.72032	D	0.01	.	4.412	0.11438	0.1226:0.0667:0.1282:0.6826	.	98;98	G3V3S6;Q16825	.;PTN21_HUMAN	C	98	ENSP00000330276:Y98C;ENSP00000452414:Y98C;ENSP00000451401:Y98C	ENSP00000330276:Y98C	Y	-	2	0	PTPN21	88053246	1.000000	0.71417	0.086000	0.20670	0.057000	0.15508	4.196000	0.58407	0.436000	0.26393	-0.379000	0.06801	TAT		0.428	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			C	88983493	T	C	88983493	3	2	608	1	0	0	0	0	1	0	0	0	12792	1406	49	3	3299	3	PTPN21	14	88983493	Missense_Mutation	SNP	T	TCGA-CZ-5988-01A-11D-1669-08		88983493	18366047	34	33354											
CHD9	80205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53358659	53358659	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr16:53358659T>C	ENST00000398510.3	+	38	8633	c.8546T>C	c.(8545-8547)aTt>aCt	p.I2849T	CHD9_ENST00000447540.1_Missense_Mutation_p.I2834T|CHD9_ENST00000566029.1_Missense_Mutation_p.I2833T|CHD9_ENST00000564845.1_Missense_Mutation_p.I2833T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2849					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.I2850T(1)|p.I2850S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATTCCAGAATTAAAGATCAG	0.393																																																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											50	45	46					16																	53358659		1843	4086	5929	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8546T>C	16.37:g.53358659T>C	ENSP00000381522:p.Ile2849Thr		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	T	2.403	-0.337230	0.05278	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.85013	-1.93	5.16	-1.88	0.07713	.	0.803304	0.10604	N	0.655262	T	0.68072	0.2961	N	0.08118	0	0.21697	N	0.999583	P;B;P;B	0.49447	0.495;0.0;0.924;0.0	B;B;B;B	0.43809	0.09;0.0;0.432;0.0	T	0.61739	-0.7001	10	0.20519	T	0.43	0.2066	7.9714	0.30130	0.0:0.1292:0.4786:0.3922	.	915;2834;2849;2833	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	T	2834;2833;915	ENSP00000396345:I2834T	ENSP00000381522:I2833T	I	+	2	0	CHD9	51916160	0.987000	0.35691	0.914000	0.36105	0.945000	0.59286	0.277000	0.18734	-0.593000	0.05844	-0.256000	0.11100	ATT		0.393	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		C	53358659	T	C	53358659	3	2	608	1	0	0	0	0	1	0	0	0	3334	1493	52	3	8648	3	CHD9	16	53358659	Missense_Mutation	SNP	T	TCGA-CZ-5988-01A-11D-1669-08		53358659	36996094	35	33355											
SMTNL2	342527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4500589	4500589	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr17:4500589G>C	ENST00000389313.4	+	7	1297	c.1230G>C	c.(1228-1230)aaG>aaC	p.K410N	SMTNL2_ENST00000338859.4_Missense_Mutation_p.K266N	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	410	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.							p.K266N(1)|p.K410N(1)		breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGAGGCAGAAGAACTTCGAGC	0.622																																																2	Substitution - Missense(2)	kidney(2)											116	99	105					17																	4500589		2203	4300	6503	SO:0001583	missense	342527			AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.1230G>C	17.37:g.4500589G>C	ENSP00000373964:p.Lys410Asn		Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216830	0.58452	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.95069	-3.6;-3.6	5.24	5.24	0.73138	Calponin homology domain (5);	.	.	.	.	D	0.91054	0.7185	L	0.41710	1.295	0.39491	D	0.968045	P	0.37781	0.608	B	0.37731	0.257	D	0.91168	0.4966	9	0.52906	T	0.07	-38.3045	11.747	0.51825	0.0:0.0:0.8238:0.1762	.	410	Q2TAL5	SMTL2_HUMAN	N	266;410	ENSP00000345143:K266N;ENSP00000373964:K410N	ENSP00000345143:K266N	K	+	3	2	SMTNL2	4447338	0.719000	0.27986	1.000000	0.80357	0.904000	0.53231	-0.094000	0.11094	2.613000	0.88420	0.462000	0.41574	AAG		0.622	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		C	4500589	G	C	4500589	3	2	608	1	0	0	0	0	1	0	0	0	14822	933	33	4	1256	4	SMTNL2	17	4500589	Missense_Mutation	SNP	G	TCGA-CZ-5988-01A-11D-1669-08		4500589	76694621	36	33356											
ADORA2B	136	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15848766	15848766	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr17:15848766C>T	ENST00000304222.2	+	1	536	c.204C>T	c.(202-204)agC>agT	p.S68S		NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	68					activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.S68S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	TCACCATCAGCCTGGGCTTCT	0.632																																																1	Substitution - coding silent(1)	kidney(1)											54	40	45					17																	15848766		2203	4300	6503	SO:0001819	synonymous_variant	136			M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"GPCR / Class A : Adenosine receptors"	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.204C>T	17.37:g.15848766C>T				Silent	SNP	ENST00000304222.2	37	CCDS11173.1																																																																																				0.632	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131032.1			T	15848766	C	T	15848766	2	4	608	1	0	0	0	0	0	0	0	1	328	738	26	2		2	ADORA2B	17	15848766	Silent	SNP	C	TCGA-CZ-5988-01A-11D-1669-08	11348177	15848766	65346444	37	33357											
OR1I1	126370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15198107	15198107	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr19:15198107C>T	ENST00000209540.2	+	1	317	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T77T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCTCCACCACCGTCCCCAAGA	0.542																																																1	Substitution - coding silent(1)	kidney(1)											233	156	182					19																	15198107		2203	4300	6503	SO:0001819	synonymous_variant	126370			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"GPCR / Class A : Olfactory receptors"	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.231C>T	19.37:g.15198107C>T			Q96R92	Silent	SNP	ENST00000209540.2	37	CCDS32937.1																																																																																				0.542	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			T	15198107	C	T	15198107	2	4	608	1	0	0	0	0	0	0	0	1	10960	639	23	1		1	OR1I1	19	15198107	Silent	SNP	C	TCGA-CZ-5988-01A-11D-1669-08		15198107	43930876	38	33358											
NR2F6	2063	broad.mit.edu;hgsc.bcm.edu	37	19	17346354	17346354	+	Silent	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr19:17346354G>A	ENST00000291442.3	-	3	1613	c.894C>T	c.(892-894)gaC>gaT	p.D298D		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	298	Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.D298D(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						ACTCGGCCGAGTCGACCTGCA	0.701																																																1	Substitution - coding silent(1)	kidney(1)											8	8	8					19																	17346354		2063	4060	6123	SO:0001819	synonymous_variant	2063			X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"Nuclear hormone receptors"	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.894C>T	19.37:g.17346354G>A			B2RC68|Q5XGA0|Q6P586|Q9BUE8	Silent	SNP	ENST00000291442.3	37	CCDS12352.1																																																																																				0.701	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			A	17346354	G	A	17346354	2	1	608	1	0	0	0	0	0	0	0	1	10631	1020	36	2		2	NR2F6	19	17346354	Silent	SNP	G	TCGA-CZ-5988-01A-11D-1669-08	2148247	17346354	41782629	39	33359											
FFAR2	2867	broad.mit.edu;ucsc.edu	37	19	35941423	35941423	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr19:35941423C>T	ENST00000599180.2	+	2	887	c.807C>T	c.(805-807)gaC>gaT	p.D269D	FFAR2_ENST00000246549.2_Silent_p.D269D|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	269					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.D269D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAGTCTGGACCCCCTGCTCT	0.582																																					GBM(40;139 809 9833 23358 48736)											1	Substitution - coding silent(1)	kidney(1)											96	92	94					19																	35941423		2203	4300	6503	SO:0001819	synonymous_variant	2867			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.807C>T	19.37:g.35941423C>T			B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																				0.582	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		T	35941423	C	T	35941423	2	4	608	1	0	0	0	0	0	0	0	1	5830	506	18	2		2	FFAR2	19	35941423	Silent	SNP	C	TCGA-CZ-5988-01A-11D-1669-08	18595069	35941423	23187560	40	33360											
IZUMO1	284359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49246716	49246716	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr19:49246716G>T	ENST00000332955.2	-	6	1032	c.485C>A	c.(484-486)tCc>tAc	p.S162Y	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	162					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S162Y(1)		endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GCAATCGTAGGACTTTCGACA	0.562																																																1	Substitution - Missense(1)	kidney(1)											118	87	98					19																	49246716		2203	4300	6503	SO:0001583	missense	284359			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.485C>A	19.37:g.49246716G>T	ENSP00000327786:p.Ser162Tyr		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735939	0.49045	.	.	ENSG00000182264	ENST00000332955	T	0.24350	1.86	4.92	2.73	0.32206	.	0.603781	0.16107	N	0.229287	T	0.43831	0.1265	L	0.58101	1.795	0.21325	N	0.999727	D	0.89917	1.0	D	0.74023	0.982	T	0.17077	-1.0381	10	0.87932	D	0	-14.7749	10.4247	0.44371	0.0:0.0:0.6453:0.3547	.	162	Q8IYV9	IZUM1_HUMAN	Y	162	ENSP00000327786:S162Y	ENSP00000327786:S162Y	S	-	2	0	IZUMO1	53938528	0.337000	0.24766	0.158000	0.22627	0.040000	0.13550	0.482000	0.22276	0.763000	0.33175	0.561000	0.74099	TCC		0.562	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		T	49246716	G	T	49246716	3	4	608	1	0	0	0	0	1	0	0	0	7935	1174	41	4	587	4	IZUMO1	19	49246716	Missense_Mutation	SNP	G	TCGA-CZ-5988-01A-11D-1669-08	13305293	49246716	9882267	41	33361											
CD33	945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51728801	51728801	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr19:51728801G>T	ENST00000262262.4	+	2	386	c.365G>T	c.(364-366)aGa>aTa	p.R122I	CD33_ENST00000391796.3_Missense_Mutation_p.R122I|CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	122	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R122I(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CGGATGGAGAGAGGAAGTACC	0.522																																																1	Substitution - Missense(1)	kidney(1)											50	52	51					19																	51728801		2203	4299	6502	SO:0001583	missense	945			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.365G>T	19.37:g.51728801G>T	ENSP00000262262:p.Arg122Ile		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	10.02	1.237071	0.22711	.	.	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.46063	0.88;0.88	3.34	-6.69	0.01772	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.562160	0.04939	U	0.458304	T	0.49012	0.1532	M	0.71296	2.17	0.09310	N	1	P;P	0.45348	0.856;0.543	P;B	0.54026	0.74;0.381	T	0.57985	-0.7716	10	0.72032	D	0.01	.	2.6836	0.05101	0.4101:0.2868:0.2071:0.0959	.	122;122	F8WAL2;P20138	.;CD33_HUMAN	I	122	ENSP00000262262:R122I;ENSP00000375673:R122I	ENSP00000262262:R122I	R	+	2	0	CD33	56420613	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.760000	0.04756	-3.394000	0.00172	-2.852000	0.00102	AGA		0.522	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		T	51728801	G	T	51728801	3	4	608	1	0	0	0	0	1	0	0	0	3007	942	33	4	371	4	CD33	19	51728801	Missense_Mutation	SNP	G	TCGA-CZ-5988-01A-11D-1669-08	2482085	51728801	7400182	42	33362											
C20orf112	140688	broad.mit.edu;hgsc.bcm.edu	37	20	31035602	31035602	+	Missense_Mutation	SNP	T	T	C	rs377542764		TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr20:31035602T>C	ENST00000359676.5	-	8	1250	c.1108A>G	c.(1108-1110)Atg>Gtg	p.M370V	RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		370						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M370V(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCGCCTTTCATGCTGAGGTCC	0.662																																																1	Substitution - Missense(1)	kidney(1)											36	40	38					20																	31035602		2202	4296	6498	SO:0001583	missense	140688																														ENST00000359676.5:c.1108A>G	20.37:g.31035602T>C	ENSP00000352704:p.Met370Val		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	37	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449665	0.43531	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	M	0.64997	1.995	0.80722	D	1	P	0.43578	0.811	P	0.60789	0.879	T	0.77485	-0.2570	9	0.66056	D	0.02	-9.57	14.9144	0.70785	0.0:0.0:0.0:1.0	.	370	Q96MY1	CT112_HUMAN	V	370	.	ENSP00000352704:M370V	M	-	1	0	C20orf112	30499263	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.804000	0.85993	2.164000	0.68074	0.459000	0.35465	ATG		0.662	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			C	31035602	T	C	31035602	3	2	608	1	0	0	0	0	1	0	0	0	2083	1464	51	3	206	3	C20orf112	20	31035602	Missense_Mutation	SNP	T	TCGA-CZ-5988-01A-11D-1669-08		31035602	31989918	43	33363											
ZNFX1	57169	broad.mit.edu;hgsc.bcm.edu	37	20	47874193	47874193	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr20:47874193C>G	ENST00000396105.1	-	8	2671	c.2425G>C	c.(2425-2427)Gaa>Caa	p.E809Q	ZNFX1_ENST00000371752.1_Missense_Mutation_p.E809Q|ZNFX1_ENST00000371754.4_Missense_Mutation_p.E809Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	809							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E809Q(2)|p.E613Q(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			tcatccccttctgcctGGGCT	0.488																																																3	Substitution - Missense(3)	kidney(3)											62	53	56					20																	47874193		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2425G>C	20.37:g.47874193C>G	ENSP00000379412:p.Glu809Gln		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382231	0.42207	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.86865	-1.92;-2.18;-2.18;-0.85;-1.58	5.87	4.92	0.64577	.	0.352371	0.32533	N	0.005962	D	0.87888	0.6291	L	0.37630	1.12	0.45216	D	0.99822	D	0.67145	0.996	P	0.62089	0.898	D	0.84807	0.0788	10	0.18710	T	0.47	-15.3712	13.6102	0.62074	0.0:0.925:0.0:0.075	.	809	Q9P2E3	ZNFX1_HUMAN	Q	809;809;809;809;809;613	ENSP00000360819:E809Q;ENSP00000360817:E809Q;ENSP00000379412:E809Q;ENSP00000360809:E809Q;ENSP00000413800:E613Q	ENSP00000360809:E809Q	E	-	1	0	ZNFX1	47307600	0.836000	0.29430	1.000000	0.80357	0.967000	0.64934	1.330000	0.33781	1.482000	0.48325	0.655000	0.94253	GAA		0.488	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		G	47874193	C	G	47874193	3	3	608	1	0	0	0	0	1	0	0	0	18210	922	32	4	3359	4	ZNFX1	20	47874193	Missense_Mutation	SNP	C	TCGA-CZ-5988-01A-11D-1669-08	16838591	47874193	15151327	44	33364											
PRIC285	85441	broad.mit.edu;hgsc.bcm.edu	37	20	62193088	62193088	+	Silent	SNP	C	C	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr20:62193088C>G	ENST00000467148.1	-	12	6771	c.6702G>C	c.(6700-6702)ctG>ctC	p.L2234L	HELZ2_ENST00000427522.2_Silent_p.L1665L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2234	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L2234L(1)									CCATCCTTCTCAGGAGCAGTC	0.667																																																1	Substitution - coding silent(1)	kidney(1)											28	27	28					20																	62193088		2195	4295	6490	SO:0001819	synonymous_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6702G>C	20.37:g.62193088C>G			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																				0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		G	62193088	C	G	62193088	2	3	608	1	0	0	0	0	0	0	0	1	12490	813	29	4		4	PRIC285	20	62193088	Silent	SNP	C	TCGA-CZ-5988-01A-11D-1669-08	14318895	62193088	832432	45	33365											
SON	6651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34924766	34924766	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr21:34924766C>A	ENST00000356577.4	+	3	3704	c.3229C>A	c.(3229-3231)Cca>Aca	p.P1077T	SON_ENST00000300278.4_Missense_Mutation_p.P1077T|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.P1077T|SON_ENST00000381679.4_Missense_Mutation_p.P1077T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1077	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P1077T(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CATGATGTCCCCAATGGCTGA	0.512																																																2	Substitution - Missense(2)	kidney(2)											148	133	138					21																	34924766		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3229C>A	21.37:g.34924766C>A	ENSP00000348984:p.Pro1077Thr		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527540	0.44969	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.92	5.92	0.95590	.	0.000000	0.51477	D	0.000083	T	0.53094	0.1775	L	0.54323	1.7	0.36843	D	0.887515	D;D;P;D;D	0.89917	1.0;1.0;0.946;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.998;0.636;0.999;0.999	T	0.57118	-0.7866	10	0.66056	D	0.02	.	17.8019	0.88590	0.0:1.0:0.0:0.0	.	1077;1077;758;1077;1077	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	T	1077	ENSP00000348984:P1077T;ENSP00000290239:P1077T;ENSP00000300278:P1077T;ENSP00000371095:P1077T	ENSP00000290239:P1077T	P	+	1	0	SON	33846636	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	2.481000	0.45215	2.795000	0.96236	0.655000	0.94253	CCA		0.512	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		A	34924766	C	A	34924766	3	1	608	1	0	0	0	0	1	0	0	0	14932	623	22	4	3239	4	SON	21	34924766	Missense_Mutation	SNP	C	TCGA-CZ-5988-01A-11D-1669-08		34924766	13205129	46	33366											
SUSD2	56241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24579610	24579610	+	Silent	SNP	G	G	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr22:24579610G>T	ENST00000358321.3	+	3	696	c.435G>T	c.(433-435)ctG>ctT	p.L145L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	145					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.L145L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCACCTGGCTGGCTGGTGAGC	0.642																																																1	Substitution - coding silent(1)	kidney(1)											72	62	65					22																	24579610		2203	4300	6503	SO:0001819	synonymous_variant	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.435G>T	22.37:g.24579610G>T			Q9H5Y6	Silent	SNP	ENST00000358321.3	37	CCDS13824.1																																																																																				0.642	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		T	24579610	G	T	24579610	2	4	608	1	0	0	0	0	0	0	0	1	15413	1335	47	4		4	SUSD2	22	24579610	Silent	SNP	G	TCGA-CZ-5988-01A-11D-1669-08		24579610	26724956	47	33367											
CNKSR2	22866	broad.mit.edu	37	X	21450761	21450761	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chrX:21450761C>A	ENST00000379510.3	+	3	296	c.260C>A	c.(259-261)aCc>aAc	p.T87N	CNKSR2_ENST00000543067.1_Missense_Mutation_p.T87N|CNKSR2_ENST00000425654.2_Missense_Mutation_p.T87N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.T87N	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	87	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.T87N(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATCTAAAAACCCTTTCTCAC	0.328																																																2	Substitution - Missense(2)	prostate(1)|kidney(1)											62	69	67					X																	21450761		2203	4300	6503	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.260C>A	X.37:g.21450761C>A	ENSP00000368824:p.Thr87Asn		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242689	0.39598	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.19250	2.43;2.17;2.16;2.43	4.76	4.76	0.60689	CRIC domain (1);CRIC domain, Chordata (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	N	0.11927	0.2	0.58432	D	0.999999	D;B;B	0.89917	1.0;0.333;0.236	D;B;B	0.83275	0.996;0.326;0.173	T	0.19451	-1.0305	10	0.25751	T	0.34	-0.0541	17.1028	0.86654	0.0:1.0:0.0:0.0	.	87;87;87	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	N	87	ENSP00000397906:T87N;ENSP00000444633:T87N;ENSP00000279451:T87N;ENSP00000368824:T87N	ENSP00000279451:T87N	T	+	2	0	CNKSR2	21360682	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.344000	0.79328	1.958000	0.56883	0.363000	0.22086	ACC		0.328	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		A	21450761	C	A	21450761	3	1	608	1	0	0	0	0	1	0	0	0	3609	507	18	4	270	4	CNKSR2	23	21450761	Missense_Mutation	SNP	C	TCGA-CZ-5988-01A-11D-1669-08		21450761	133819799	48	33368											
MTMR8	55613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	63488824	63488824	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chrX:63488824G>A	ENST00000374852.3	-	14	1775	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	570						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)|p.L570F(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ATAAAGCCAAGAGGATTGGTC	0.468																																																3	Whole gene deletion(2)|Substitution - Missense(1)	ovary(1)|large_intestine(1)|kidney(1)											71	61	64					X																	63488824		2203	4300	6503	SO:0001583	missense	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1708C>T	X.37:g.63488824G>A	ENSP00000363985:p.Leu570Phe		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.991|9.991	1.230854|1.230854	0.22542|0.22542	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000374852;ENST00000247400|ENST00000442913	D|.	0.95103|.	-3.61|.	2.39|2.39	1.5|1.5	0.22942|0.22942	.|.	0.903441|.	0.08976|.	U|.	0.866571|.	T|T	0.20129|0.20129	0.0484|0.0484	N|N	0.14661|0.14661	0.345|0.345	0.27591|0.27591	N|N	0.949264|0.949264	P|.	0.50617|.	0.937|.	B|.	0.37198|.	0.243|.	T|T	0.26087|0.26087	-1.0113|-1.0113	10|5	0.59425|.	D|.	0.04|.	.|.	6.4072|6.4072	0.21670|0.21670	0.0:0.3027:0.6973:0.0|0.0:0.3027:0.6973:0.0	.|.	570|.	Q96EF0|.	MTMR8_HUMAN|.	F|F	570;456|373	ENSP00000363985:L570F|.	ENSP00000247400:L456F|.	L|S	-|-	1|2	0|0	MTMR8|MTMR8	63405549|63405549	0.980000|0.980000	0.34600|0.34600	0.508000|0.508000	0.27688|0.27688	0.980000|0.980000	0.70556|0.70556	1.017000|1.017000	0.29989|0.29989	0.437000|0.437000	0.26423|0.26423	0.529000|0.529000	0.55759|0.55759	CTT|TCT		0.468	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		A	63488824	G	A	63488824	3	1	608	1	0	0	0	0	1	0	0	0	9951	942	33	2	410	2	MTMR8	23	63488824	Missense_Mutation	SNP	G	TCGA-CZ-5988-01A-11D-1669-08	42038063	63488824	91781736	49	33369											
RBMX	27316	hgsc.bcm.edu	37	X	135956571	135956572	+	Frame_Shift_Ins	INS	-	-	GG	rs369155856		TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chrX:135956571_135956572insGG	ENST00000320676.7	-	9	1059_1060	c.905_906insCC	c.(904-906)ccafs	p.P302fs	RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000565438.1_Frame_Shift_Ins_p.P174fs|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Frame_Shift_Ins_p.P167fs|RBMX_ENST00000496459.2_5'Flank	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	302					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCATAAGATGGCGGGGGCCC	0.465																																																0																																										SO:0001589	frameshift_variant	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.904_905dupCC	X.37:g.135956572_135956573dupGG	ENSP00000359645:p.Pro302fs		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Ins	INS	ENST00000320676.7	37	CCDS14661.1																																																																																				0.465	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		GG	135956572	-	GG	135956571	7	5	608	1	0	1	1	0	0	0	0	0	13157	1451	51	0	328	0	RBMX	23	135956571	Frame_Shift_Ins	INS	-	TCGA-CZ-5988-01A-11D-1669-08	72467747	135956571	19313989	50	33370											
ATG4C	84938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	63300488	63300488	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr1:63300488T>G	ENST00000317868.4	+	9	1261	c.1054T>G	c.(1054-1056)Ttt>Gtt	p.F352V	ATG4C_ENST00000371120.3_Missense_Mutation_p.F352V	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	352					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.F352V(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						CTGCCAATCTTTTGTAGATGT	0.328																																																2	Substitution - Missense(2)	kidney(2)											171	147	155					1																	63300488		2203	4299	6502	SO:0001583	missense	84938			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)"	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1054T>G	1.37:g.63300488T>G	ENSP00000322159:p.Phe352Val		A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502327	0.26949	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025;ENST00000414558	T;T	0.40476	1.03;1.03	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	L	0.33245	0.995	0.80722	D	1	B	0.20459	0.045	B	0.25405	0.06	T	0.07309	-1.0779	10	0.14656	T	0.56	-11.8731	15.5998	0.76616	0.0:0.0:0.0:1.0	.	352	Q96DT6	ATG4C_HUMAN	V	352;352;352;96	ENSP00000322159:F352V;ENSP00000360161:F352V	ENSP00000322159:F352V	F	+	1	0	ATG4C	63073076	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.156000	0.67533	0.477000	0.44152	TTT		0.328	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		G	63300488	T	G	63300488	3	3	609	1	0	0	0	0	1	0	0	0	1098	1841	64	5	1084	5	ATG4C	1	63300488	Missense_Mutation	SNP	T	TCGA-CZ-5989-01A-11D-1669-08		63300488	185950133	1	33371											
OR2G2	81470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247752195	247752195	+	Silent	SNP	T	T	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr1:247752195T>C	ENST00000320065.1	+	1	534	c.534T>C	c.(532-534)gaT>gaC	p.D178D	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D178D(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCCAAGTGGATCATTTCATCT	0.542																																																1	Substitution - coding silent(1)	kidney(1)											185	175	178					1																	247752195		2203	4300	6503	SO:0001819	synonymous_variant	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.534T>C	1.37:g.247752195T>C			Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	CCDS31092.1																																																																																				0.542	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			C	247752195	T	C	247752195	2	2	609	1	0	0	0	0	0	0	0	1	11000	1432	50	3		3	OR2G2	1	247752195	Silent	SNP	T	TCGA-CZ-5989-01A-11D-1669-08	184451707	247752195	1498426	2	33372											
FBLN7	129804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	112944841	112944841	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr2:112944841G>A	ENST00000331203.2	+	8	1349	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	FBLN7_ENST00000409667.3_Missense_Mutation_p.A226T|FBLN7_ENST00000409450.3_Missense_Mutation_p.A314T|FBLN7_ENST00000409903.1_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	360					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.A360T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CATGGCCACAGCCTCTGCCCC	0.642																																																1	Substitution - Missense(1)	kidney(1)											81	86	84					2																	112944841		2203	4300	6503	SO:0001583	missense	129804				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"Fibulins"	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1078G>A	2.37:g.112944841G>A	ENSP00000331411:p.Ala360Thr		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872570	0.72180	.	.	ENSG00000144152	ENST00000331203;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	T;T;T;D;T	0.82255	0.98;0.98;0.98;-1.59;0.98	5.41	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	N	0.19112	0.55	0.58432	D	0.999996	P;D;D	0.89917	0.521;1.0;1.0	B;D;D	0.91635	0.187;0.999;0.974	T	0.76206	-0.3044	10	0.09338	T	0.73	-28.6111	14.5344	0.67950	0.072:0.0:0.928:0.0	.	226;314;360	Q53RD9-4;Q53RD9-2;Q53RD9	.;.;FBLN7_HUMAN	T	360;226;314;254;182	ENSP00000331411:A360T;ENSP00000386822:A226T;ENSP00000387000:A314T;ENSP00000388025:A254T;ENSP00000272559:A182T	ENSP00000272559:A182T	A	+	1	0	FBLN7	112661312	1.000000	0.71417	0.955000	0.39395	0.694000	0.40290	7.129000	0.77225	2.542000	0.85734	0.555000	0.69702	GCC		0.642	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		A	112944841	G	A	112944841	3	1	609	1	0	0	0	0	1	0	0	0	5703	971	34	2	1108	2	FBLN7	2	112944841	Missense_Mutation	SNP	G	TCGA-CZ-5989-01A-11D-1669-08		112944841	130254532	3	33373											
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188202	10188212	+	Frame_Shift_Del	DEL	CCTTTGGCTCT	CCTTTGGCTCT	-	rs5030830		TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	CCTTTGGCTCT	CCTTTGGCTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr3:10188202_10188212delCCTTTGGCTCT	ENST00000256474.2	+	2	1185_1195	c.345_355delCCTTTGGCTCT	c.(343-357)cacctttggctcttcfs	p.LWLF116fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	116	Involved in binding to CCT complex.		L -> V (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W117*(7)|p.L118P(5)|p.W117R(5)|p.W117C(4)|p.W117fs*42(3)|p.?(3)|p.L116fs*43(3)|p.W117fs*14(2)|p.W117L(2)|p.W117G(2)|p.L116L(1)|p.L118fs*14(1)|p.W117fs*40(1)|p.L116V(1)|p.H115fs*15(1)|p.L116fs*16(1)|p.F119fs*11(1)|p.L118_G123>P(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.L118H(1)|p.W117fs*1(1)|p.W117S(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGATAGGTCACCTTTGGCTCTTCAGAGATGC	0.521		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	49	Substitution - Missense(21)|Deletion - Frameshift(14)|Substitution - Nonsense(7)|Unknown(3)|Insertion - Frameshift(2)|Complex - deletion inframe(1)|Substitution - coding silent(1)	kidney(44)|large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	GRCh37	CI983254|CI994275|CM023998|CM056725|CM941373|CM951285|CM951286|CM961424|CM961425|CM961426|HM971481	VHL	I|M	rs5030830																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.345_355delCCTTTGGCTCT	3.37:g.10188202_10188212delCCTTTGGCTCT	ENSP00000256474:p.Leu116fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.521	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188212	CCTTTGGCTCT	-	10188202	7	5	609	1	0	1	0	1	0	0	0	0	17167	506	18	0	351	0	VHL	3	10188202	Frame_Shift_Del	DEL	CCTTTGGCTCT	TCGA-CZ-5989-01A-11D-1669-08		10188202	187834228	4	33374											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52598238	52598238	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr3:52598238delC	ENST00000296302.7	-	23	3704	c.3703delG	c.(3703-3705)gtgfs	p.V1235fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.V1250fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.V1203fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.V1210fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.V1250fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.V1235fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.V1210fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.V1235fs			Q86U86	PB1_HUMAN	polybromo 1	1235	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATGACAACACAGCACACTTT	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													69	68	68					3																	52598238		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3703delG	3.37:g.52598238delC	ENSP00000296302:p.Val1235fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		-	52598238	C	-	52598238	7	5	609	1	0	1	0	1	0	0	0	0	11493	478	17	0	1229	0	PBRM1	3	52598238	Frame_Shift_Del	DEL	C	TCGA-CZ-5989-01A-11D-1669-08	42410036	52598238	145424192	5	33375											
ZBTB38	253461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141163046	141163046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr3:141163046C>T	ENST00000514251.1	+	4	2095	c.1816C>T	c.(1816-1818)Cag>Tag	p.Q606*	ZBTB38_ENST00000321464.5_Nonsense_Mutation_p.Q607*|ZBTB38_ENST00000441582.2_Nonsense_Mutation_p.Q606*					zinc finger and BTB domain containing 38									p.Q606*(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTATGTTGTTCAGAATCCACA	0.433																																																1	Substitution - Nonsense(1)	kidney(1)											80	78	79					3																	141163046		1967	4169	6136	SO:0001587	stop_gained	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1816C>T	3.37:g.141163046C>T	ENSP00000426387:p.Gln606*			Nonsense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690417	0.96793	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	.	.	.	5.49	4.58	0.56647	.	0.294454	0.32028	N	0.006693	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.8442	14.0669	0.64837	0.1499:0.8501:0.0:0.0	.	.	.	.	X	606;606;606;607	.	.	Q	+	1	0	ZBTB38	142645736	0.993000	0.37304	0.846000	0.33378	0.965000	0.64279	1.643000	0.37217	2.574000	0.86865	0.650000	0.86243	CAG		0.433	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			T	141163046	C	T	141163046	4	4	609	1	0	0	0	0	0	1	0	0	17544	827	29	2	1818	2	ZBTB38	3	141163046	Nonsense_Mutation	SNP	C	TCGA-CZ-5989-01A-11D-1669-08	88564808	141163046	56859384	6	33376											
SPON2	10417	hgsc.bcm.edu;ucsc.edu	37	4	1161269	1161270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr4:1161269_1161270insT	ENST00000290902.5	-	6	1318_1319	c.986_987insA	c.(985-987)aacfs	p.N329fs	RP11-20I20.4_ENST00000609548.1_RNA|SPON2_ENST00000431380.1_Frame_Shift_Ins_p.N329fs	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	329	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CTTAGACGCAGTTATCAGGGAC	0.693											OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	10417			AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.987dupA	4.37:g.1161271_1161271dupT	ENSP00000290902:p.Asn329fs	593	D3DVN9|Q4W5N4|Q9ULW1	Frame_Shift_Ins	INS	ENST00000290902.5	37	CCDS3347.1																																																																																				0.693	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			T	1161270	-	T	1161269	7	5	609	1	0	1	1	0	0	0	0	0	15088	1020	36	0	12	0	SPON2	4	1161269	Frame_Shift_Ins	INS	-	TCGA-CZ-5989-01A-11D-1669-08		1161269	189993007	7	33377											
ACOX3	8310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8416611	8416611	+	Silent	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr4:8416611G>A	ENST00000356406.5	-	4	500	c.423C>T	c.(421-423)ctC>ctT	p.L141L	ACOX3_ENST00000503233.1_Silent_p.L141L|ACOX3_ENST00000413009.2_Silent_p.L141L	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	141					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.L141L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GAATATATGTGAGATGTCTTT	0.403																																																1	Substitution - coding silent(1)	kidney(1)											108	102	104					4																	8416611		2203	4300	6503	SO:0001819	synonymous_variant	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.423C>T	4.37:g.8416611G>A			Q96AJ8	Silent	SNP	ENST00000356406.5	37	CCDS3401.1																																																																																				0.403	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			A	8416611	G	A	8416611	2	1	609	1	0	0	0	0	0	0	0	1	160	1277	45	2		2	ACOX3	4	8416611	Silent	SNP	G	TCGA-CZ-5989-01A-11D-1669-08	7255342	8416611	182737665	8	33378											
RAPGEF2	9693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	160260314	160260314	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr4:160260314G>A	ENST00000264431.4	+	13	2278	c.1859G>A	c.(1858-1860)cGc>cAc	p.R620H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	620	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.R608H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CAGCAAAGCCGCTACATCATG	0.423																																																1	Substitution - Missense(1)	kidney(1)											181	164	169					4																	160260314		1923	4117	6040	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1859G>A	4.37:g.160260314G>A	ENSP00000264431:p.Arg620His		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419183	0.96092	.	.	ENSG00000109756	ENST00000264431	T	0.18657	2.2	5.57	5.57	0.84162	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	L	0.43152	1.355	0.80722	D	1	D	0.64830	0.994	P	0.59595	0.86	T	0.02352	-1.1172	10	0.49607	T	0.09	.	19.5396	0.95268	0.0:0.0:1.0:0.0	.	620	Q9Y4G8	RPGF2_HUMAN	H	620	ENSP00000264431:R620H	ENSP00000264431:R620H	R	+	2	0	RAPGEF2	160479764	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.726000	0.98782	2.611000	0.88343	0.591000	0.81541	CGC		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		A	160260314	G	A	160260314	3	1	609	1	0	0	0	0	1	0	0	0	13050	1087	38	1	1909	1	RAPGEF2	4	160260314	Missense_Mutation	SNP	G	TCGA-CZ-5989-01A-11D-1669-08	151843703	160260314	30893962	9	33379											
RICTOR	253260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	38950756	38950756	+	Missense_Mutation	SNP	T	T	C	rs199854036		TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr5:38950756T>C	ENST00000357387.3	-	31	3224	c.3194A>G	c.(3193-3195)aAt>aGt	p.N1065S	RICTOR_ENST00000296782.5_Missense_Mutation_p.N1065S	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.N1065S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTATCTTCATTGATATCAAG	0.358																																																1	Substitution - Missense(1)	kidney(1)											102	110	107					5																	38950756		2202	4298	6500	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3194A>G	5.37:g.38950756T>C	ENSP00000349959:p.Asn1065Ser			Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	T	4.449	0.083163	0.08533	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.40476	1.03;1.03	5.86	-0.502	0.12004	.	0.607868	0.18659	N	0.134780	T	0.17789	0.0427	N	0.08118	0	0.20975	N	0.999818	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17868	-1.0355	10	0.23302	T	0.38	-12.4883	6.689	0.23161	0.0:0.378:0.1712:0.4508	.	1065;1065	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	1065	ENSP00000349959:N1065S;ENSP00000296782:N1065S	ENSP00000296782:N1065S	N	-	2	0	RICTOR	38986513	0.036000	0.19791	0.977000	0.42913	0.829000	0.46940	0.102000	0.15272	-0.022000	0.13986	-0.280000	0.10049	AAT		0.358	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		C	38950756	T	C	38950756	3	2	609	1	0	0	0	0	1	0	0	0	13364	1493	52	3	1964	3	RICTOR	5	38950756	Missense_Mutation	SNP	T	TCGA-CZ-5989-01A-11D-1669-08		38950756	141964504	10	33380											
PCDHB1	29930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140431290	140431290	+	Missense_Mutation	SNP	C	C	A	rs558402868		TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr5:140431290C>A	ENST00000306549.3	+	1	312	c.235C>A	c.(235-237)Cgc>Agc	p.R79S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	79	Cadherin 1. {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)	p.R79S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGCTCCACCGCAAGACGGG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		16641	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											63	67	65					5																	140431290		2203	4300	6503	SO:0001583	missense	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.235C>A	5.37:g.140431290C>A	ENSP00000307234:p.Arg79Ser		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	8.695	0.908351	0.17833	.	.	ENSG00000171815	ENST00000306549	T	0.36520	1.25	5.81	4.93	0.64822	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000178	T	0.22475	0.0542	L	0.35414	1.06	0.26391	N	0.976571	B	0.21071	0.051	B	0.20184	0.028	T	0.25847	-1.0120	10	0.07813	T	0.8	.	7.4335	0.27141	0.0:0.7181:0.1417:0.1402	.	79	Q9Y5F3	PCDB1_HUMAN	S	79	ENSP00000307234:R79S	ENSP00000307234:R79S	R	+	1	0	PCDHB1	140411474	0.000000	0.05858	1.000000	0.80357	0.939000	0.58152	0.261000	0.18442	1.428000	0.47296	0.655000	0.94253	CGC		0.567	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		A	140431290	C	A	140431290	3	1	609	1	0	0	0	0	1	0	0	0	11536	652	23	4	237	4	PCDHB1	5	140431290	Missense_Mutation	SNP	C	TCGA-CZ-5989-01A-11D-1669-08	101480534	140431290	40483970	11	33381											
PRSS16	10279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27222582	27222582	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr6:27222582G>A	ENST00000230582.3	+	10	1276	c.1261G>A	c.(1261-1263)Gct>Act	p.A421T	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.A164T	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	421					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.A421T(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGTAGCCCAGGCTGTGGCTCA	0.547																																					NSCLC(178;1118 2105 17078 23587 44429)											2	Substitution - Missense(2)	kidney(1)|central_nervous_system(1)											115	107	110					6																	27222582		2203	4300	6503	SO:0001583	missense	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1261G>A	6.37:g.27222582G>A	ENSP00000230582:p.Ala421Thr		O75416	Missense_Mutation	SNP	ENST00000230582.3	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176536	0.78564	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14391	2.51;2.51	4.68	4.68	0.58851	.	0.418049	0.26143	N	0.026091	T	0.20455	0.0492	M	0.79258	2.445	0.37044	D	0.897274	D;D	0.59357	0.985;0.985	P;P	0.61201	0.873;0.885	T	0.05920	-1.0856	10	0.14656	T	0.56	-7.0444	13.307	0.60357	0.0:0.0:1.0:0.0	.	164;421	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	T	164;421	ENSP00000404349:A164T;ENSP00000230582:A421T	ENSP00000230582:A421T	A	+	1	0	PRSS16	27330561	0.971000	0.33674	0.997000	0.53966	0.818000	0.46254	2.912000	0.48782	2.607000	0.88179	0.557000	0.71058	GCT		0.547	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			A	27222582	G	A	27222582	3	1	609	1	0	0	0	0	1	0	0	0	12621	1203	42	2	1299	2	PRSS16	6	27222582	Missense_Mutation	SNP	G	TCGA-CZ-5989-01A-11D-1669-08		27222582	143892485	12	33382											
PFDN6	10471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33257668	33257668	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr6:33257668A>G	ENST00000395131.1	+	2	441	c.35A>G	c.(34-36)gAa>gGa	p.E12G	PFDN6_ENST00000374606.5_Missense_Mutation_p.E12G|WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000463584.1_Missense_Mutation_p.E12G|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374607.1_Missense_Mutation_p.E12G|PFDN6_ENST00000374610.2_Missense_Mutation_p.E12G|RGL2_ENST00000437840.2_5'Flank			O15212	PFD6_HUMAN	prefoldin subunit 6	12					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)	p.E12G(1)		kidney(1)|large_intestine(1)	2						CTACAGGGAGAAGTGGAGAAA	0.532																																																1	Substitution - Missense(1)	kidney(1)											107	102	104					6																	33257668		2203	4300	6503	SO:0001583	missense	10471			BC039033	CCDS4773.1	6p21.3	2006-02-24	2006-02-24	2006-02-24	ENSG00000204220	ENSG00000204220			4926	protein-coding gene	gene with protein product		605660	"HLA class II region expressed gene KE2", "prefoldin 6"	HKE2		9545376, 9630229	Standard	NM_001185181		Approved	KE-2, H2-KE2, PFD6	uc031sny.1	O15212	OTTHUMG00000031247	ENST00000395131.1:c.35A>G	6.37:g.33257668A>G	ENSP00000378563:p.Glu12Gly			Missense_Mutation	SNP	ENST00000395131.1	37	CCDS4773.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026217	0.75390	.	.	ENSG00000204220	ENST00000395131;ENST00000374606;ENST00000374610;ENST00000374607;ENST00000463584	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.62	5.62	0.85841	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	M	0.86651	2.83	0.80722	D	1	P	0.37955	0.612	P	0.45071	0.468	T	0.54689	-0.8256	10	0.52906	T	0.07	.	12.1393	0.53989	1.0:0.0:0.0:0.0	.	12	O15212	PFD6_HUMAN	G	12	ENSP00000378563:E12G;ENSP00000363734:E12G;ENSP00000363738:E12G;ENSP00000363735:E12G;ENSP00000420135:E12G	ENSP00000363734:E12G	E	+	2	0	PFDN6	33365646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.561000	0.73955	2.360000	0.80028	0.519000	0.50382	GAA		0.532	PFDN6-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276361.1	NM_014260		G	33257668	A	G	33257668	3	3	609	1	0	0	0	0	1	0	0	0	11761	246	9	3	37	3	PFDN6	6	33257668	Missense_Mutation	SNP	A	TCGA-CZ-5989-01A-11D-1669-08	6035086	33257668	137857399	13	33383											
RFPL4B	442247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	112671198	112671198	+	Silent	SNP	T	T	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr6:112671198T>C	ENST00000441065.2	+	3	600	c.288T>C	c.(286-288)gaT>gaC	p.D96D	RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	96	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.D96D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TTCGGGAGGATGTGACCCTGG	0.517																																																1	Substitution - coding silent(1)	kidney(1)											88	82	84					6																	112671198		2203	4300	6503	SO:0001819	synonymous_variant	442247			AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"RING-type (C3HC4) zinc fingers"	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.288T>C	6.37:g.112671198T>C			A2RU91	Silent	SNP	ENST00000441065.2	37	CCDS34515.1																																																																																				0.517	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		C	112671198	T	C	112671198	2	2	609	1	0	0	0	0	0	0	0	1	13262	1461	51	3		3	RFPL4B	6	112671198	Silent	SNP	T	TCGA-CZ-5989-01A-11D-1669-08	79413530	112671198	58443869	14	33384											
TRIM55	84675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67064733	67064733	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr8:67064733A>C	ENST00000315962.4	+	8	1480	c.1107A>C	c.(1105-1107)gaA>gaC	p.E369D	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.E369D|TRIM55_ENST00000353317.5_Missense_Mutation_p.E369D	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	369					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.E369D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTCCAGGAGAAGATGAAAACC	0.517																																																1	Substitution - Missense(1)	kidney(1)											69	72	71					8																	67064733		2203	4300	6503	SO:0001583	missense	84675			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1107A>C	8.37:g.67064733A>C	ENSP00000323913:p.Glu369Asp		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.312273	0.23908	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.31247	1.5;1.51;1.5	5.92	0.987	0.19790	.	0.378995	0.31624	N	0.007339	T	0.15998	0.0385	L	0.28115	0.83	0.80722	D	1	B;B;B	0.34329	0.0;0.321;0.449	B;B;B	0.30855	0.002;0.092;0.121	T	0.05386	-1.0888	10	0.35671	T	0.21	.	5.7094	0.17927	0.6572:0.1385:0.2043:0.0	.	369;369;369	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	D	369	ENSP00000323913:E369D;ENSP00000297348:E369D;ENSP00000276573:E369D	ENSP00000276573:E369D	E	+	3	2	TRIM55	67227287	0.998000	0.40836	0.945000	0.38365	0.005000	0.04900	0.334000	0.19787	0.483000	0.27608	-0.320000	0.08662	GAA		0.517	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		C	67064733	A	C	67064733	3	2	609	1	0	0	0	0	1	0	0	0	16534	69	3	5	1137	5	TRIM55	8	67064733	Missense_Mutation	SNP	A	TCGA-CZ-5989-01A-11D-1669-08		67064733	79299289	15	33385											
ZBTB10	65986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	81411971	81411971	+	Silent	SNP	T	T	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr8:81411971T>C	ENST00000430430.1	+	3	1994	c.1215T>C	c.(1213-1215)aaT>aaC	p.N405N	ZBTB10_ENST00000379091.4_Silent_p.N113N|ZBTB10_ENST00000426744.2_Silent_p.N405N|ZBTB10_ENST00000455036.3_Silent_p.N405N	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	405	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N405N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ACCAAAACAATACTACCCACT	0.388																																																1	Substitution - coding silent(1)	kidney(1)											115	111	112					8																	81411971		1824	4094	5918	SO:0001819	synonymous_variant	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1215T>C	8.37:g.81411971T>C			A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	37	CCDS47880.1																																																																																				0.388	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		C	81411971	T	C	81411971	2	2	609	1	0	0	0	0	0	0	0	1	17528	1403	49	3		3	ZBTB10	8	81411971	Silent	SNP	T	TCGA-CZ-5989-01A-11D-1669-08	14347238	81411971	64952051	16	33386											
TSNARE1	203062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	143310906	143310906	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr8:143310906G>A	ENST00000307180.3	-	13	1598	c.1481C>T	c.(1480-1482)tCa>tTa	p.S494L	TSNARE1_ENST00000524325.1_Missense_Mutation_p.S493L|TSNARE1_ENST00000520166.1_Missense_Mutation_p.S494L	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	494					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.S494L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GACTCCAGCTGATAGGAAGCA	0.537																																																1	Substitution - Missense(1)	kidney(1)											201	138	159					8																	143310906		2203	4300	6503	SO:0001583	missense	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1481C>T	8.37:g.143310906G>A	ENSP00000303437:p.Ser494Leu		B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.194286	0.00302	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	T;T;T	0.08807	3.05;3.06;3.05	2.42	1.49	0.22878	.	.	.	.	.	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.47249	-0.9132	9	0.11485	T	0.65	.	7.7417	0.28845	0.1459:0.0:0.8541:0.0	.	493;494;495	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	L	493;494;494	ENSP00000428763:S493L;ENSP00000303437:S494L;ENSP00000427770:S494L	ENSP00000303437:S494L	S	-	2	0	TSNARE1	143308813	0.000000	0.05858	0.024000	0.17045	0.335000	0.28730	0.088000	0.14979	0.296000	0.22592	0.457000	0.33378	TCA		0.537	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		A	143310906	G	A	143310906	3	1	609	1	0	0	0	0	1	0	0	0	16635	1294	45	2	64	2	TSNARE1	8	143310906	Missense_Mutation	SNP	G	TCGA-CZ-5989-01A-11D-1669-08	61898935	143310906	3053116	17	33387											
PBX3	5090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	128724472	128724472	+	Silent	SNP	C	C	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr9:128724472C>T	ENST00000373489.5	+	7	1117	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	PBX3_ENST00000373483.2_Silent_p.V186V|PBX3_ENST00000447726.2_Silent_p.V292V|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000373487.4_Silent_p.V388V|PBX3_ENST00000538998.1_Intron	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	367					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V367V(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGTCCCAAGTCGGAGCCAATG	0.507																																																1	Substitution - coding silent(1)	kidney(1)											68	65	66					9																	128724472		2203	4300	6503	SO:0001819	synonymous_variant	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1101C>T	9.37:g.128724472C>T			E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Silent	SNP	ENST00000373489.5	37	CCDS6865.1																																																																																				0.507	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			T	128724472	C	T	128724472	2	4	609	1	0	0	0	0	0	0	0	1	11496	871	31	1		1	PBX3	9	128724472	Silent	SNP	C	TCGA-CZ-5989-01A-11D-1669-08		128724472	12488959	18	33388											
VAV2	7410	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136674238	136674238	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr9:136674238T>A	ENST00000371850.3	-	7	621	c.590A>T	c.(589-591)gAc>gTc	p.D197V	VAV2_ENST00000371851.1_Missense_Mutation_p.D192V|VAV2_ENST00000406606.3_Missense_Mutation_p.D192V	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	197					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D197V(1)|p.D192V(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTTCCTCTTGTCATCTTCAGT	0.617																																																2	Substitution - Missense(2)	kidney(2)											134	107	116					9																	136674238		2203	4300	6503	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.590A>T	9.37:g.136674238T>A	ENSP00000360916:p.Asp197Val		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.385782	0.61956	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.27402	1.67;1.67;1.67	4.64	4.64	0.57946	Dbl homology (DH) domain (2);Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.77004	0.708;0.989	T	0.50742	-0.8792	10	0.87932	D	0	.	12.0202	0.53340	0.0:0.0:0.0:1.0	.	197;192	P52735;P52735-3	VAV2_HUMAN;.	V	197;192;192;192	ENSP00000360916:D197V;ENSP00000360917:D192V;ENSP00000385362:D192V	ENSP00000317258:D192V	D	-	2	0	VAV2	135664059	1.000000	0.71417	0.999000	0.59377	0.372000	0.29890	7.305000	0.78891	1.740000	0.51718	0.379000	0.24179	GAC		0.617	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			A	136674238	T	A	136674238	3	1	609	1	0	0	0	0	1	0	0	0	17137	1667	58	5	2142	5	VAV2	9	136674238	Missense_Mutation	SNP	T	TCGA-CZ-5989-01A-11D-1669-08	7949766	136674238	4539193	19	33389											
THNSL1	79896	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	25312229	25312229	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr10:25312229A>G	ENST00000524413.1	+	3	424	c.77A>G	c.(76-78)gAt>gGt	p.D26G	THNSL1_ENST00000376356.4_Missense_Mutation_p.D26G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	26						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.D26G(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	GTTAAAACGGATAAACATGCA	0.368																																																1	Substitution - Missense(1)	kidney(1)											92	94	93					10																	25312229		2203	4300	6503	SO:0001583	missense	79896			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.77A>G	10.37:g.25312229A>G	ENSP00000434887:p.Asp26Gly		B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169087	0.38315	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.08546	3.08;3.08	5.87	3.54	0.40534	.	1.362150	0.04673	N	0.411072	T	0.06508	0.0167	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39482	-0.9612	10	0.37606	T	0.19	-18.564	3.6115	0.08062	0.657:0.0:0.1826:0.1603	.	26	Q8IYQ7	THNS1_HUMAN	G	26	ENSP00000434887:D26G;ENSP00000365534:D26G	ENSP00000365534:D26G	D	+	2	0	THNSL1	25352235	0.000000	0.05858	0.001000	0.08648	0.494000	0.33585	-0.025000	0.12413	0.485000	0.27652	0.455000	0.32223	GAT		0.368	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		G	25312229	A	G	25312229	3	3	609	1	0	0	0	0	1	0	0	0	15867	333	12	3	79	3	THNSL1	10	25312229	Missense_Mutation	SNP	A	TCGA-CZ-5989-01A-11D-1669-08		25312229	110222518	20	33390											
CYP2C8	1558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96805619	96805619	+	Silent	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr10:96805619G>A	ENST00000371270.3	-	6	1003	c.909C>T	c.(907-909)agC>agT	p.S303S	CYP2C8_ENST00000539050.1_Silent_p.S217S|CYP2C8_ENST00000535898.1_Silent_p.S201S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	303					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.S303S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TCAGAGTGGTGCTTGTTGTCT	0.433																																																1	Substitution - coding silent(1)	kidney(1)											202	177	185					10																	96805619		2203	4300	6503	SO:0001819	synonymous_variant	1558			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.909C>T	10.37:g.96805619G>A			A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Silent	SNP	ENST00000371270.3	37	CCDS7438.1																																																																																				0.433	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		A	96805619	G	A	96805619	2	1	609	1	0	0	0	0	0	0	0	1	4169	1310	46	2		2	CYP2C8	10	96805619	Silent	SNP	G	TCGA-CZ-5989-01A-11D-1669-08	71493390	96805619	38729128	21	33391											
GBF1	8729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	104129688	104129688	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr10:104129688G>T	ENST00000369983.3	+	26	3543	c.3283G>T	c.(3283-3285)Ggc>Tgc	p.G1095C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1095					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G1095C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TAGTGTTCGGGGCCCATCCAC	0.517																																																1	Substitution - Missense(1)	kidney(1)											78	78	78					10																	104129688		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3283G>T	10.37:g.104129688G>T	ENSP00000359000:p.Gly1095Cys		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714918	0.68844	.	.	ENSG00000107862	ENST00000369983	T	0.67523	-0.27	5.34	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	P;P;D	0.68765	0.846;0.894;0.96	T	0.78437	-0.2204	10	0.56958	D	0.05	-11.4759	14.1142	0.65142	0.0717:0.0:0.9282:0.0	.	1095;1095;1095	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	C	1095	ENSP00000359000:G1095C	ENSP00000359000:G1095C	G	+	1	0	GBF1	104119678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	1.490000	0.48466	0.650000	0.86243	GGC		0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			T	104129688	G	T	104129688	3	4	609	1	0	0	0	0	1	0	0	0	6273	1232	43	4	3381	4	GBF1	10	104129688	Missense_Mutation	SNP	G	TCGA-CZ-5989-01A-11D-1669-08	7324069	104129688	31405059	22	33392											
MUC6	4588	broad.mit.edu	37	11	1025856	1025856	+	Silent	SNP	G	G	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr11:1025856G>T	ENST00000421673.2	-	22	2798	c.2748C>A	c.(2746-2748)atC>atA	p.I916I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	916	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.I916I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTCCCACAGATGACGTTCT	0.647																																																2	Substitution - coding silent(2)	kidney(2)											51	58	55					11																	1025856		2100	4203	6303	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2748C>A	11.37:g.1025856G>T			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.647	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		T	1025856	G	T	1025856	2	4	609	1	0	0	0	0	0	0	0	1	9982	932	33	4		4	MUC6	11	1025856	Silent	SNP	G	TCGA-CZ-5989-01A-11D-1669-08		1025856	133980660	23	33393											
ABCC9	10060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	22015946	22015946	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr12:22015946C>A	ENST00000261201.4	-	18	2279	c.2280G>T	c.(2278-2280)tgG>tgT	p.W760C	ABCC9_ENST00000261200.4_Missense_Mutation_p.W760C|ABCC9_ENST00000345162.2_Missense_Mutation_p.W724C|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	760	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.W760C(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATTTAATAGCCAAGGCTTTT	0.338																																																2	Substitution - Missense(2)	kidney(2)											57	61	60					12																	22015946		2203	4300	6503	SO:0001583	missense	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2280G>T	12.37:g.22015946C>A	ENSP00000261201:p.Trp760Cys		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296141	0.81025	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.44	5.44	0.79542	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96161	0.9115	10	0.87932	D	0	-6.9744	19.6299	0.95698	0.0:1.0:0.0:0.0	.	760;760	O60706;O60706-2	ABCC9_HUMAN;.	C	760;387;760;724	ENSP00000261200:W760C;ENSP00000440521:W387C;ENSP00000261201:W760C;ENSP00000261202:W724C	ENSP00000261200:W760C	W	-	3	0	ABCC9	21907213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.723000	0.93209	0.591000	0.81541	TGG		0.338	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		A	22015946	C	A	22015946	3	1	609	1	0	0	0	0	1	0	0	0	59	740	26	4	2595	4	ABCC9	12	22015946	Missense_Mutation	SNP	C	TCGA-CZ-5989-01A-11D-1669-08		22015946	111835949	24	33394											
KRT78	196374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53242514	53242514	+	Silent	SNP	C	C	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr12:53242514C>T	ENST00000304620.4	-	1	264	c.201G>A	c.(199-201)ggG>ggA	p.G67G	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	67	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G67G(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACTCCACTCCCCAAACCGCA	0.627																																																1	Substitution - coding silent(1)	kidney(1)											39	35	36					12																	53242514		2203	4300	6503	SO:0001819	synonymous_variant	196374			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.201G>A	12.37:g.53242514C>T			A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	CCDS8840.1																																																																																				0.627	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		T	53242514	C	T	53242514	2	4	609	1	0	0	0	0	0	0	0	1	8493	610	22	2		2	KRT78	12	53242514	Silent	SNP	C	TCGA-CZ-5989-01A-11D-1669-08	31226568	53242514	80609381	25	33395											
SPRYD4	283377	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56863103	56863103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr12:56863103G>A	ENST00000338146.5	+	2	441	c.366G>A	c.(364-366)tgG>tgA	p.W122*	MIP_ENST00000555551.1_5'Flank	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	122	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.W122*(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ATCGTTCCTGGGTGTTCACCT	0.567																																																1	Substitution - Nonsense(1)	kidney(1)											160	149	152					12																	56863103		2203	4300	6503	SO:0001587	stop_gained	283377			AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.366G>A	12.37:g.56863103G>A	ENSP00000338034:p.Trp122*		A8K7A5	Nonsense_Mutation	SNP	ENST00000338146.5	37	CCDS8920.1	.	.	.	.	.	.	.	.	.	.	G	37	6.239936	0.97403	.	.	ENSG00000176422	ENST00000338146;ENST00000543121	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4528	18.4593	0.90732	0.0:0.0:1.0:0.0	.	.	.	.	X	122;44	.	ENSP00000338034:W122X	W	+	3	0	SPRYD4	55149370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.631000	0.90991	2.735000	0.93741	0.561000	0.74099	TGG		0.567	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_207344		A	56863103	G	A	56863103	4	1	609	1	0	0	0	0	0	1	0	0	15115	1241	43	2	372	2	SPRYD4	12	56863103	Nonsense_Mutation	SNP	G	TCGA-CZ-5989-01A-11D-1669-08	3620589	56863103	76988792	26	33396											
MAP3K9	4293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	71267589	71267589	+	Silent	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr14:71267589G>A	ENST00000554752.2	-	2	614	c.615C>T	c.(613-615)gcC>gcT	p.A205A	MAP3K9_ENST00000381250.4_Silent_p.A205A|MAP3K9_ENST00000555993.2_Silent_p.A205A	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A205A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCCCTCTTAGGGCAATGATGT	0.532																																					GBM(114;411 1587 13539 28235 50070)											1	Substitution - coding silent(1)	kidney(1)											129	114	119					14																	71267589		2203	4300	6503	SO:0001819	synonymous_variant	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.615C>T	14.37:g.71267589G>A			A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37																																																																																					0.532	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			A	71267589	G	A	71267589	2	1	609	1	0	0	0	0	0	0	0	1	9259	1219	43	2		2	MAP3K9	14	71267589	Silent	SNP	G	TCGA-CZ-5989-01A-11D-1669-08		71267589	36081951	27	33397											
PLA2G4F	255189	hgsc.bcm.edu;ucsc.edu	37	15	42434287	42434287	+	Silent	SNP	C	C	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr15:42434287C>T	ENST00000382396.4	-	20	2531	c.2445G>A	c.(2443-2445)ctG>ctA	p.L815L	PLA2G4F_ENST00000397272.3_Silent_p.L817L			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	815	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGAGGGCCACCAGCCGATAAA	0.592																																																0													79	72	75					15																	42434287		2203	4299	6502	SO:0001819	synonymous_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2445G>A	15.37:g.42434287C>T			Q6ZMC8	Silent	SNP	ENST00000382396.4	37	CCDS32204.1																																																																																				0.592	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		T	42434287	C	T	42434287	2	4	609	1	0	0	0	0	0	0	0	1	12008	581	21	2		2	PLA2G4F	15	42434287	Silent	SNP	C	TCGA-CZ-5989-01A-11D-1669-08		42434287	60097105	28	33398											
CELF6	60677	broad.mit.edu;ucsc.edu	37	15	72597100	72597100	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr15:72597100A>C	ENST00000569547.1	-	3	452	c.381T>G	c.(379-381)agT>agG	p.S127R	CELF6_ENST00000287202.5_Missense_Mutation_p.S127R|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.S127R|CELF6_ENST00000539635.1_Intron|CELF6_ENST00000543764.2_Missense_Mutation_p.S12R|CELF6_ENST00000569311.1_5'UTR			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	127	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S127R(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTCGGCCCTCACTGGCAGCTG	0.577																																																1	Substitution - Missense(1)	kidney(1)											126	87	100					15																	72597100		2199	4297	6496	SO:0001583	missense	60677			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.381T>G	15.37:g.72597100A>C	ENSP00000454749:p.Ser127Arg		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	37	CCDS10242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.67|15.67	2.903552|2.903552	0.52333|0.52333	.|.	.|.	ENSG00000140488|ENSG00000140488	ENST00000287202;ENST00000437872;ENST00000543764|ENST00000379915	T;T|.	0.36157|.	1.27;2.22|.	5.03|5.03	3.9|3.9	0.45041|0.45041	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.60534|0.60534	0.2276|0.2276	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;B;B|.	0.69078|.	0.997;0.055;0.296|.	D;B;B|.	0.68353|.	0.957;0.007;0.06|.	T|T	0.57046|0.57046	-0.7878|-0.7878	10|6	0.87932|0.36615	D|T	0|0.2	-0.6368|-0.6368	7.3029|7.3029	0.26430|0.26430	0.9016:0.0:0.0984:0.0|0.9016:0.0:0.0984:0.0	.|.	127;12;127|.	B4DJB6;B4DG28;Q96J87|.	.;.;CELF6_HUMAN|.	R|G	127;127;12|5	ENSP00000287202:S127R;ENSP00000439956:S12R|.	ENSP00000287202:S127R|ENSP00000369247:V5G	S|V	-|-	3|2	2|0	CELF6|CELF6	70384154|70384154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.821000|1.821000	0.39041|0.39041	0.939000|0.939000	0.37446|0.37446	0.533000|0.533000	0.62120|0.62120	AGT|GTG		0.577	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		C	72597100	A	C	72597100	3	2	609	1	0	0	0	0	1	0	0	0	3222	156	6	5	1104	5	CELF6	15	72597100	Missense_Mutation	SNP	A	TCGA-CZ-5989-01A-11D-1669-08	30162813	72597100	29934292	29	33399											
UNC45A	55898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91478784	91478784	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr15:91478784T>A	ENST00000418476.2	+	2	102	c.62T>A	c.(61-63)gTg>gAg	p.V21E	UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000394275.2_Missense_Mutation_p.V6E|AC068831.3_ENST00000448987.1_RNA|AC068831.3_ENST00000438890.1_RNA|HDDC3_ENST00000394272.3_5'Flank	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	21					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.V21E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCCAGCTCAGTGGAGCAGCTG	0.672																																																1	Substitution - Missense(1)	kidney(1)											47	56	53					15																	91478784		2197	4297	6494	SO:0001583	missense	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.62T>A	15.37:g.91478784T>A	ENSP00000407487:p.Val21Glu		A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.412490	0.42817	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.74632	-0.86;-0.86	5.17	-1.95	0.07548	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	1.301730	0.04622	N	0.402191	T	0.70316	0.3210	L	0.41079	1.255	0.31465	N	0.669026	B;B;B;B	0.26635	0.044;0.155;0.006;0.006	B;B;B;B	0.39027	0.288;0.206;0.075;0.075	T	0.65471	-0.6160	10	0.87932	D	0	-5.1684	6.2524	0.20854	0.0:0.522:0.1946:0.2834	.	21;6;21;6	B4DZL0;B4DLE6;Q9H3U1;A8K6F7	.;.;UN45A_HUMAN;.	E	6;21	ENSP00000377816:V6E;ENSP00000407487:V21E	ENSP00000377816:V6E	V	+	2	0	UNC45A	89279788	0.177000	0.23109	0.617000	0.29091	0.822000	0.46500	0.009000	0.13219	-0.269000	0.09298	0.454000	0.30748	GTG		0.672	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		A	91478784	T	A	91478784	3	1	609	1	0	0	0	0	1	0	0	0	16993	1696	59	5	68	5	UNC45A	15	91478784	Missense_Mutation	SNP	T	TCGA-CZ-5989-01A-11D-1669-08	18881684	91478784	11052608	30	33400											
MYLK3	91807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	46781877	46781877	+	Missense_Mutation	SNP	C	C	T	rs143624767	byFrequency	TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr16:46781877C>T	ENST00000394809.4	-	1	344	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	77					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.G77R(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCATCAGCCCCGCCCGGGCCC	0.687													C|||	3	0.000599042	0.0023	0.0	5008	,	,		15032	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	kidney(2)						C	ARG/GLY	2,4400		0,2,2199	18	22	21		229	2.8	0.2	16	dbSNP_134	21	0,8590		0,0,4295	no	missense	MYLK3	NM_182493.2	125	0,2,6494	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	77/820	46781877	2,12990	2201	4295	6496	SO:0001583	missense	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.229G>A	16.37:g.46781877C>T	ENSP00000378288:p.Gly77Arg		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	6.247	0.413710	0.11812	4.54E-4	0.0	ENSG00000140795	ENST00000394809	T	0.68331	-0.32	4.81	2.82	0.32997	.	0.000000	0.34603	N	0.003832	T	0.51975	0.1706	L	0.60455	1.87	0.09310	N	0.999999	P	0.51933	0.949	B	0.38616	0.277	T	0.44528	-0.9322	10	0.20046	T	0.44	.	5.3172	0.15862	0.0:0.5991:0.1552:0.2457	.	77	Q32MK0	MYLK3_HUMAN	R	77	ENSP00000378288:G77R	ENSP00000378288:G77R	G	-	1	0	MYLK3	45339378	0.000000	0.05858	0.175000	0.22980	0.003000	0.03518	-0.175000	0.09825	1.138000	0.42230	-0.436000	0.05848	GGG		0.687	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		T	46781877	C	T	46781877	3	4	609	1	0	0	0	0	1	0	0	0	10060	652	23	1	2282	1	MYLK3	16	46781877	Missense_Mutation	SNP	C	TCGA-CZ-5989-01A-11D-1669-08		46781877	43572876	31	33401											
NOD2	64127	hgsc.bcm.edu;ucsc.edu	37	16	50763736	50763736	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr16:50763736A>T	ENST00000300589.2	+	11	3079	c.2974A>T	c.(2974-2976)Aat>Tat	p.N992Y		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	992					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.N992Y(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CAGGTTGTCCAATAACTGCAT	0.498																																																1	Substitution - Missense(1)	kidney(1)											129	129	129					16																	50763736		2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2974A>T	16.37:g.50763736A>T	ENSP00000300589:p.Asn992Tyr		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427715	0.62733	.	.	ENSG00000167207	ENST00000526417;ENST00000300589;ENST00000431240	T	0.54479	0.57	5.56	4.43	0.53597	.	0.000000	0.64402	D	0.000005	T	0.57154	0.2034	L	0.27053	0.805	0.33966	D	0.646244	D	0.76494	0.999	D	0.87578	0.998	T	0.68413	-0.5415	10	0.72032	D	0.01	.	9.7534	0.40490	0.8277:0.1723:0.0:0.0	.	992	Q9HC29	NOD2_HUMAN	Y	965;992;132	ENSP00000300589:N992Y	ENSP00000300589:N992Y	N	+	1	0	NOD2	49321237	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	0.943000	0.29030	2.122000	0.65172	0.528000	0.53228	AAT		0.498	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		T	50763736	A	T	50763736	3	4	609	1	0	0	0	0	1	0	0	0	10519	130	5	5	3016	5	NOD2	16	50763736	Missense_Mutation	SNP	A	TCGA-CZ-5989-01A-11D-1669-08	3981859	50763736	39591017	32	33402											
ZNF23	7571	broad.mit.edu	37	16	71487199	71487199	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr16:71487199A>T	ENST00000393539.2	-	5	902	c.89T>A	c.(88-90)cTg>cAg	p.L30Q	ZNF23_ENST00000358700.2_Missense_Mutation_p.L30Q|ZNF23_ENST00000564528.1_5'UTR|ZNF23_ENST00000497160.1_Missense_Mutation_p.L30Q|ZNF23_ENST00000539742.1_Intron|ZNF23_ENST00000357254.4_Missense_Mutation_p.L30Q|ZNF23_ENST00000428724.2_5'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.L30Q|AC010547.9_ENST00000561908.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L30Q(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGAGCCCCCCAGCTCACTTCC	0.507																																																1	Substitution - Missense(1)	kidney(1)											36	31	33					16																	71487199		2198	4300	6498	SO:0001583	missense	7571			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.89T>A	16.37:g.71487199A>T	ENSP00000377171:p.Leu30Gln		Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.250277	0.22880	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828	T;T;T	0.29655	1.56;1.56;1.56	4.75	4.75	0.60458	Krueppel-associated box (2);	0.294345	0.18557	N	0.137733	T	0.34978	0.0916	L	0.28014	0.82	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.94	T	0.05649	-1.0872	10	0.21014	T	0.42	-2.7829	7.5754	0.27933	0.9024:0.0:0.0976:0.0	.	30;30	B3KR55;P17027	.;ZNF23_HUMAN	Q	30	ENSP00000377171:L30Q;ENSP00000349796:L30Q;ENSP00000395712:L30Q	ENSP00000349796:L30Q	L	-	2	0	ZNF23	70044700	0.095000	0.21747	0.992000	0.48379	0.419000	0.31324	1.871000	0.39539	2.089000	0.63090	0.482000	0.46254	CTG		0.507	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		T	71487199	A	T	71487199	3	4	609	1	0	0	0	0	1	0	0	0	17788	188	7	5	1850	5	ZNF23	16	71487199	Missense_Mutation	SNP	A	TCGA-CZ-5989-01A-11D-1669-08	20723463	71487199	18867554	33	33403											
TRPV1	7442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3486632	3486632	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr17:3486632C>T	ENST00000571088.1	-	9	1689	c.1476G>A	c.(1474-1476)ggG>ggA	p.G492G	TRPV1_ENST00000399756.4_Splice_Site_p.G492G|TRPV1_ENST00000576351.1_Splice_Site_p.G482G|TRPV1_ENST00000174621.6_Splice_Site_p.G490G|TRPV1_ENST00000425167.2_Splice_Site_p.G503G|TRPV1_ENST00000310522.5_Splice_Site_p.G432G|SHPK_ENST00000572705.1_Splice_Site_p.G492G|TRPV1_ENST00000399759.3_Splice_Site_p.G492G	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	492					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)	p.G503G(1)|p.G492G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GAACGCTTACCCCTCGGAAAA	0.433																																					Melanoma(38;962 1762 15789)											2	Substitution - coding silent(2)	kidney(2)											55	53	53					17																	3486632		1966	4149	6115	SO:0001630	splice_region_variant	7442			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1476+1G>A	17.37:g.3486632C>T			A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	CCDS45576.1																																																																																				0.433	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	Silent	T	3486632	C	T	3486632	5	4	609	1	0	0	0	0	0	0	1	0	16600	637	22	2	748	2	TRPV1	17	3486632	Splice_Site	SNP	C	TCGA-CZ-5989-01A-11D-1669-08		3486632	77708578	34	33404											
XYLT2	64132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48432223	48432223	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr17:48432223C>A	ENST00000017003.2	+	4	862	c.813C>A	c.(811-813)gaC>gaA	p.D271E	XYLT2_ENST00000507602.1_Missense_Mutation_p.D271E	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	271					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.D271E(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGCGTTCCGACTACCTGCACC	0.627																																																1	Substitution - Missense(1)	kidney(1)											46	45	45					17																	48432223		2203	4299	6502	SO:0001583	missense	64132			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.813C>A	17.37:g.48432223C>A	ENSP00000017003:p.Asp271Glu		Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672801	0.29693	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.10382	2.88;2.88	4.62	4.62	0.57501	.	0.223450	0.46145	D	0.000308	T	0.09247	0.0228	N	0.13168	0.305	0.25803	N	0.98449	B	0.16802	0.019	B	0.29176	0.099	T	0.27088	-1.0084	10	0.32370	T	0.25	-14.9673	17.6497	0.88159	0.0:1.0:0.0:0.0	.	271	Q9H1B5	XYLT2_HUMAN	E	271	ENSP00000017003:D271E;ENSP00000426501:D271E	ENSP00000017003:D271E	D	+	3	2	XYLT2	45787222	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	3.152000	0.50677	2.403000	0.81681	0.313000	0.20887	GAC		0.627	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		A	48432223	C	A	48432223	3	1	609	1	0	0	0	0	1	0	0	0	17469	564	20	4	827	4	XYLT2	17	48432223	Missense_Mutation	SNP	C	TCGA-CZ-5989-01A-11D-1669-08	44945591	48432223	32762987	35	33405											
ABCA9	10350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	67023934	67023934	+	Silent	SNP	G	G	A			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr17:67023934G>A	ENST00000340001.4	-	13	1849	c.1638C>T	c.(1636-1638)caC>caT	p.H546H	ABCA9_ENST00000453985.2_Silent_p.H546H|ABCA9_ENST00000370732.2_Silent_p.H546H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	546	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.H546H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTGAAAGTGTGTGATTATAGA	0.373																																																1	Substitution - coding silent(1)	kidney(1)											77	77	77					17																	67023934		2203	4300	6503	SO:0001819	synonymous_variant	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1638C>T	17.37:g.67023934G>A			Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	CCDS11681.1																																																																																				0.373	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		A	67023934	G	A	67023934	2	1	609	1	0	0	0	0	0	0	0	1	39	1368	48	2		2	ABCA9	17	67023934	Silent	SNP	G	TCGA-CZ-5989-01A-11D-1669-08	18591711	67023934	14171276	36	33406											
SRP68	6730	broad.mit.edu;hgsc.bcm.edu	37	17	74041394	74041394	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr17:74041394G>T	ENST00000307877.2	-	12	1534	c.1373C>A	c.(1372-1374)aCt>aAt	p.T458N	SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_Missense_Mutation_p.T119N|SRP68_ENST00000355113.5_Missense_Mutation_p.T357N|SRP68_ENST00000539137.1_Missense_Mutation_p.T420N	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	458					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.T458N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GAACACCAGAGTCTTGAGGCC	0.488																																																1	Substitution - Missense(1)	kidney(1)											97	87	90					17																	74041394		2203	4298	6501	SO:0001583	missense	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1373C>A	17.37:g.74041394G>T	ENSP00000312066:p.Thr458Asn		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873739	0.72180	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000542536;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.55	5.55	0.83447	.	0.042765	0.85682	D	0.000000	T	0.61211	0.2329	M	0.68952	2.095	0.80722	D	1	P;P	0.45827	0.867;0.744	B;B	0.44044	0.439;0.439	T	0.57470	-0.7806	9	0.18276	T	0.48	-14.5044	19.8667	0.96806	0.0:0.0:1.0:0.0	.	420;458	G3V1U4;Q9UHB9	.;SRP68_HUMAN	N	198;420;119;458;427;357	.	ENSP00000307756:T427N	T	-	2	0	SRP68	71552989	1.000000	0.71417	0.866000	0.34008	0.469000	0.32828	9.361000	0.97122	2.773000	0.95371	0.655000	0.94253	ACT		0.488	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		T	74041394	G	T	74041394	3	4	609	1	0	0	0	0	1	0	0	0	15161	1029	36	4	530	4	SRP68	17	74041394	Missense_Mutation	SNP	G	TCGA-CZ-5989-01A-11D-1669-08	7017460	74041394	7153816	37	33407											
CCBE1	147372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	57103282	57103282	+	Missense_Mutation	SNP	C	C	T	rs200219373	byFrequency	TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr18:57103282C>T	ENST00000439986.4	-	11	1116	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	CCBE1_ENST00000398179.2_Missense_Mutation_p.R89Q	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	360					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.R360Q(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AGAGTGAGTCCGGTGCCCGAA	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		19157	0.001		0.0	False		,,,				2504	0.001				NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)											1	Substitution - Missense(1)	kidney(1)											144	148	147					18																	57103282		2203	4300	6503	SO:0001583	missense	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.1079G>A	18.37:g.57103282C>T	ENSP00000404464:p.Arg360Gln		Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645383	0.67358	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	D;T	0.85013	-1.93;1.61	5.8	3.08	0.35506	.	0.173225	0.47852	N	0.000203	T	0.79969	0.4538	M	0.61703	1.905	0.39325	D	0.965314	B;B;B	0.32203	0.232;0.002;0.36	B;B;B	0.17722	0.013;0.002;0.019	T	0.75964	-0.3132	10	0.51188	T	0.08	-16.7406	11.2118	0.48804	0.0:0.8172:0.0:0.1828	.	89;360;169	Q6UXH8-2;Q6UXH8;Q6UXH8-3	.;CCBE1_HUMAN;.	Q	360;89	ENSP00000404464:R360Q;ENSP00000381241:R89Q	ENSP00000381241:R89Q	R	-	2	0	CCBE1	55254262	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.365000	0.34182	0.379000	0.24794	0.655000	0.94253	CGG		0.532	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		T	57103282	C	T	57103282	3	4	609	1	0	0	0	0	1	0	0	0	2733	652	23	1	145	1	CCBE1	18	57103282	Missense_Mutation	SNP	C	TCGA-CZ-5989-01A-11D-1669-08		57103282	20973966	38	33408											
COL5A3	50509	broad.mit.edu	37	19	10073521	10073521	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr19:10073521A>T	ENST00000264828.3	-	65	4910	c.4825T>A	c.(4825-4827)Tat>Aat	p.Y1609N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1609	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.Y1609N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AATGTGCTATACCAGCCTCCA	0.552																																																1	Substitution - Missense(1)	kidney(1)											61	54	56					19																	10073521		2203	4300	6503	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4825T>A	19.37:g.10073521A>T	ENSP00000264828:p.Tyr1609Asn		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079471	0.55753	.	.	ENSG00000080573	ENST00000264828	T	0.76709	-1.04	4.62	4.62	0.57501	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	D	0.000007	D	0.88629	0.6488	M	0.89968	3.075	0.58432	D	0.999997	D	0.76494	0.999	D	0.87578	0.998	D	0.88345	0.2977	10	0.31617	T	0.26	.	12.0062	0.53261	1.0:0.0:0.0:0.0	.	1609	P25940	CO5A3_HUMAN	N	1609	ENSP00000264828:Y1609N	ENSP00000264828:Y1609N	Y	-	1	0	COL5A3	9934521	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.863000	0.92288	1.944000	0.56390	0.172000	0.16884	TAT		0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		T	10073521	A	T	10073521	3	4	609	1	0	0	0	0	1	0	0	0	3700	391	14	5	424	5	COL5A3	19	10073521	Missense_Mutation	SNP	A	TCGA-CZ-5989-01A-11D-1669-08		10073521	49055462	39	33409											
EIF6	128876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33872048	33872048	+	IGR	SNP	G	G	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr20:33872048G>C	ENST00000374408.3	-	0	3145				EIF6_ENST00000374450.3_Missense_Mutation_p.L42V|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.L42V|EIF6_ENST00000374443.3_Missense_Mutation_p.S81R|EIF6_ENST00000462894.1_5'UTR	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C									p.L42V(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTATCGGAGAGCTCGCCCTCG	0.677																																																1	Substitution - Missense(1)	kidney(1)											74	73	73					20																	33872048		2203	4300	6503	SO:0001628	intergenic_variant	3692			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332		20.37:g.33872048G>C			Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.643183|4.643183	0.87859|0.87859	.|.	.|.	ENSG00000242372|ENSG00000242372	ENST00000374436;ENST00000374450;ENST00000456600|ENST00000374443	.|.	.|.	.|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.77731|0.77731	0.4174|0.4174	M|M	0.85197|0.85197	2.74|2.74	0.48762|0.48762	D|D	0.999704|0.999704	B|D	0.20780|0.56968	0.048|0.978	B|P	0.44133|0.55871	0.442|0.786	T|T	0.82016|0.82016	-0.0666|-0.0666	9|8	0.52906|0.87932	T|D	0.07|0	-10.0888|-10.0888	16.3902|16.3902	0.83532|0.83532	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	42|81	P56537|B7ZBG9	IF6_HUMAN|.	V|R	42|81	.|.	ENSP00000363559:L42V|ENSP00000363566:S81R	L|S	-|-	1|3	0|2	EIF6|EIF6	33335462|33335462	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.969000|0.969000	0.65631|0.65631	5.163000|5.163000	0.64948|0.64948	2.625000|2.625000	0.88918|0.88918	0.561000|0.561000	0.74099|0.74099	CTC|AGC		0.677	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			C	33872048	G	C	33872048	1	2	609	0	1	0	0	0	0	0	0	0	5047	971	34	4		4	EIF6	20	33872048	IGR	SNP	G	TCGA-CZ-5989-01A-11D-1669-08		33872048	29153472	40	33410											
TOMM34	10953	hgsc.bcm.edu;ucsc.edu	37	20	43572209	43572210	+	In_Frame_Ins	INS	-	-	TTA			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr20:43572209_43572210insTTA	ENST00000372813.3	-	6	861_862	c.709_710insTAA	c.(709-711)tat>tTAAat	p.237_237Y>LN	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	237					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				CAGGACCAAATAGCAGAGTGCT	0.5																																																0																																										SO:0001652	inframe_insertion	10953			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"Tetratricopeptide (TTC) repeat domain containing"	15746	protein-coding gene	gene with protein product	"outer mitochondrial membrane translocase (34kD)"					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.709_710insTAA	20.37:g.43572209_43572210insTTA	ENSP00000361900:p.Tyr237delinsLeuAsn		Q53GH9|Q6IBN7|Q9NTZ3	In_Frame_Ins	INS	ENST00000372813.3	37	CCDS13340.1																																																																																				0.5	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809		TTA	43572210	-	TTA	43572209	7	5	609	1	0	1	1	0	0	0	0	0	16362	1406	49	0	227	0	TOMM34	20	43572209	In_Frame_Ins	INS	-	TCGA-CZ-5989-01A-11D-1669-08	9700161	43572209	19453311	41	33411											
NCOA3	8202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	46252829	46252829	+	Splice_Site	SNP	T	T	C			TCGA-CZ-5989-01A-11D-1669-08	TCGA-CZ-5989-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	852e1614-35c0-4ba7-a29c-e8e2a91aa1b7	4848f879-d959-44d1-8732-e7817c136370	g.chr20:46252829T>C	ENST00000371998.3	+	4	447		c.e4+2		NCOA3_ENST00000372004.3_Splice_Site|NCOA3_ENST00000371997.3_Splice_Site|NCOA3_ENST00000341724.6_Splice_Site			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3						androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.?(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AAGAGCAAGGTAATAAAAACA	0.388																																																1	Unknown(1)	kidney(1)											54	51	52					20																	46252829		2203	4300	6503	SO:0001630	splice_region_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.256+2T>C	20.37:g.46252829T>C			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Splice_Site	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028184	0.75390	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.794	0.52088	0.0:0.0674:0.0:0.9326	.	.	.	.	.	-1	.	.	.	+	.	.	NCOA3	45686236	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.859000	0.62954	2.371000	0.80710	0.533000	0.62120	.		0.388	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	Intron	C	46252829	T	C	46252829	5	2	609	1	0	0	0	0	0	0	1	0	10232	1652	57	3	264	3	NCOA3	20	46252829	Splice_Site	SNP	T	TCGA-CZ-5989-01A-11D-1669-08	2680620	46252829	16772691	42	33412											
RLF	6018	hgsc.bcm.edu;ucsc.edu	37	1	40705015	40705015	+	Silent	SNP	A	A	G	rs1044739		TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr1:40705015A>G	ENST00000372771.4	+	8	4668	c.4641A>G	c.(4639-4641)acA>acG	p.T1547T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1547				HTQ -> LSL (in Ref. 1; AAC50396). {ECO:0000305}.	chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTGAGCACACACAGTACCCCT	0.443																																																0													99	104	102					1																	40705015		2202	4298	6500	SO:0001819	synonymous_variant	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4641A>G	1.37:g.40705015A>G			Q14CQ1|Q9NU60	Silent	SNP	ENST00000372771.4	37	CCDS448.1																																																																																				0.443	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		G	40705015	A	G	40705015	2	3	610	1	0	0	0	0	0	0	0	1	13395	146	6	3		3	RLF	1	40705015	Silent	SNP	A	TCGA-DV-5565-01A-01D-1534-10		40705015	208545606	1	33413											
MIER1	57708	hgsc.bcm.edu;ucsc.edu	37	1	67442342	67442342	+	Missense_Mutation	SNP	A	A	G	rs566119936		TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr1:67442342A>G	ENST00000355356.3	+	11	1156	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	MIER1_ENST00000401042.3_Missense_Mutation_p.Y336C|MIER1_ENST00000355977.6_Missense_Mutation_p.Y273C|MIER1_ENST00000357692.2_Missense_Mutation_p.Y353C|MIER1_ENST00000371014.1_Missense_Mutation_p.Y389C|MIER1_ENST00000401041.1_Missense_Mutation_p.Y389C|MIER1_ENST00000371016.1_Missense_Mutation_p.Y353C|MIER1_ENST00000371018.3_Missense_Mutation_p.Y353C	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	336					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TCTGAACGTTATGATTTCTTT	0.338																																																0													104	101	102					1																	67442342		1877	4130	6007	SO:0001583	missense	57708				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.1007A>G	1.37:g.67442342A>G	ENSP00000347514:p.Tyr336Cys		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423270	0.83559	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.53	5.53	0.82687	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.74665	0.3746	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.96;0.997;0.998;0.997;0.994;0.997;0.999;0.96;0.971	T	0.79974	-0.1577	10	0.87932	D	0	-42.8571	15.9763	0.80066	1.0:0.0:0.0:0.0	.	353;353;336;336;273;360;353;389;389	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	C	357;353;273;353;389;353;389;336;336	ENSP00000360057:Y353C;ENSP00000348253:Y273C;ENSP00000350321:Y353C;ENSP00000383820:Y389C;ENSP00000360055:Y353C;ENSP00000360053:Y389C;ENSP00000383821:Y336C;ENSP00000347514:Y336C	ENSP00000347514:Y336C	Y	+	2	0	MIER1	67214930	1.000000	0.71417	0.928000	0.36995	0.975000	0.68041	7.000000	0.76290	2.237000	0.73441	0.528000	0.53228	TAT		0.338	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		G	67442342	A	G	67442342	3	3	610	1	0	0	0	0	1	0	0	0	9582	449	16	3	1289	3	MIER1	1	67442342	Missense_Mutation	SNP	A	TCGA-DV-5565-01A-01D-1534-10	26737327	67442342	181808279	2	33414											
LAMC1	3915	hgsc.bcm.edu;ucsc.edu	37	1	183094629	183094629	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr1:183094629delC	ENST00000258341.4	+	15	3002	c.2745delC	c.(2743-2745)gacfs	p.D915fs	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	915	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTGGCCAGGACTGTGGTGCTT	0.512																																																0													159	119	133					1																	183094629		2203	4300	6503	SO:0001589	frameshift_variant	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2745delC	1.37:g.183094629delC	ENSP00000258341:p.Asp915fs		Q5VYE7	Frame_Shift_Del	DEL	ENST00000258341.4	37	CCDS1351.1																																																																																				0.512	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		-	183094629	C	-	183094629	7	5	610	1	0	1	0	1	0	0	0	0	8616	564	20	0	2803	0	LAMC1	1	183094629	Frame_Shift_Del	DEL	C	TCGA-DV-5565-01A-01D-1534-10	115652287	183094629	66155992	3	33415											
KDM5B	10765	hgsc.bcm.edu;ucsc.edu	37	1	202710756	202710756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr1:202710756delT	ENST00000367265.3	-	19	3848	c.2684delA	c.(2683-2685)gatfs	p.D895fs	KDM5B_ENST00000367264.2_Frame_Shift_Del_p.D931fs	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	895					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AAAGCTGACATCTAGCAAGTC	0.463																																																0													89	82	85					1																	202710756		2203	4300	6503	SO:0001589	frameshift_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2684delA	1.37:g.202710756delT	ENSP00000356234:p.Asp895fs		O95811|Q15752|Q9Y3Q5	Frame_Shift_Del	DEL	ENST00000367265.3	37	CCDS30974.1																																																																																				0.463	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		-	202710756	T	-	202710756	7	5	610	1	0	1	0	1	0	0	0	0	8136	1435	50	0	1986	0	KDM5B	1	202710756	Frame_Shift_Del	DEL	T	TCGA-DV-5565-01A-01D-1534-10	19616127	202710756	46539865	4	33416											
IL10	3586	hgsc.bcm.edu;ucsc.edu	37	1	206944318	206944318	+	Silent	SNP	G	G	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr1:206944318G>A	ENST00000423557.1	-	3	370	c.312C>T	c.(310-312)gaC>gaT	p.D104D	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	104					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GCGCCTTGATGTCTGGGTCTT	0.552																																																0													153	145	148					1																	206944318		2203	4300	6503	SO:0001819	synonymous_variant	3586			M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"Interleukins and interleukin receptors"	5962	protein-coding gene	gene with protein product	"cytokine synthesis inhibitory factor", "T-cell growth inhibitory factor"	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.312C>T	1.37:g.206944318G>A				Silent	SNP	ENST00000423557.1	37	CCDS1467.1																																																																																				0.552	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		A	206944318	G	A	206944318	2	1	610	1	0	0	0	0	0	0	0	1	7621	1368	48	2		2	IL10	1	206944318	Silent	SNP	G	TCGA-DV-5565-01A-01D-1534-10	4233562	206944318	42306303	5	33417											
RAD51AP2	729475	hgsc.bcm.edu;ucsc.edu	37	2	17697759	17697759	+	Missense_Mutation	SNP	T	T	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr2:17697759T>A	ENST00000399080.2	-	1	1947	c.1924A>T	c.(1924-1926)Aat>Tat	p.N642Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	642										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTTTCATATTATCTTCTAAT	0.269																																																0													18	16	17					2																	17697759		1755	3986	5741	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1924A>T	2.37:g.17697759T>A	ENSP00000382030:p.Asn642Tyr			Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849795	0.32699	.	.	ENSG00000214842	ENST00000399080	T	0.28895	1.59	4.19	3.03	0.35002	.	.	.	.	.	T	0.24851	0.0603	L	0.27053	0.805	0.09310	N	1	D	0.54207	0.965	P	0.47981	0.563	T	0.06516	-1.0822	9	0.48119	T	0.1	-0.0803	5.8469	0.18671	0.1477:0.0866:0.0:0.7657	.	642	Q09MP3	R51A2_HUMAN	Y	642	ENSP00000382030:N642Y	ENSP00000382030:N642Y	N	-	1	0	RAD51AP2	17561240	0.001000	0.12720	0.001000	0.08648	0.883000	0.51084	0.602000	0.24134	0.738000	0.32606	0.378000	0.23410	AAT		0.269	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		A	17697759	T	A	17697759	3	1	610	1	0	0	0	0	1	0	0	0	12993	1754	61	5	1567	5	RAD51AP2	2	17697759	Missense_Mutation	SNP	T	TCGA-DV-5565-01A-01D-1534-10		17697759	225501614	6	33418											
PLB1	151056	hgsc.bcm.edu;ucsc.edu	37	2	28851970	28851970	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr2:28851970G>A	ENST00000327757.5	+	53	3780	c.3736G>A	c.(3736-3738)Gct>Act	p.A1246T	PLB1_ENST00000422425.2_Missense_Mutation_p.A1235T|PLB1_ENST00000541605.1_Missense_Mutation_p.A211T	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1246	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCTCCCAAGGGCTTTCGTCAA	0.592																																																0													87	69	75					2																	28851970		2203	4300	6503	SO:0001583	missense	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3736G>A	2.37:g.28851970G>A	ENSP00000330442:p.Ala1246Thr		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	2.460	-0.324390	0.05350	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000541605	T;T;T	0.12147	2.71;2.71;2.71	5.75	0.213	0.15244	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.627834	0.15720	N	0.247923	T	0.06371	0.0164	N	0.17474	0.49	0.09310	N	1	B;B	0.29590	0.25;0.243	B;B	0.28709	0.093;0.078	T	0.42241	-0.9463	10	0.07644	T	0.81	-3.4934	8.6368	0.33953	0.4883:0.0:0.5117:0.0	.	1235;1246	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	T	1246;1235;211	ENSP00000330442:A1246T;ENSP00000416440:A1235T;ENSP00000437426:A211T	ENSP00000330442:A1246T	A	+	1	0	PLB1	28705474	0.001000	0.12720	0.022000	0.16811	0.356000	0.29392	-0.396000	0.07278	-0.010000	0.14271	-1.193000	0.01689	GCT		0.592	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			A	28851970	G	A	28851970	3	1	610	1	0	0	0	0	1	0	0	0	12026	1203	42	2	3979	2	PLB1	2	28851970	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	11154211	28851970	214347403	7	33419											
IL1F8	27177	hgsc.bcm.edu;ucsc.edu	37	2	113788714	113788714	+	Missense_Mutation	SNP	G	G	C			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr2:113788714G>C	ENST00000259213.4	-	3	139	c.32C>G	c.(31-33)tCc>tGc	p.S11C	IL36B_ENST00000327407.2_Missense_Mutation_p.S11C	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	11					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						AATAGCATAGGATTTGGGTGC	0.463																																																0													100	89	93					2																	113788714		2203	4300	6503	SO:0001583	missense	0			AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.32C>G	2.37:g.113788714G>C	ENSP00000259213:p.Ser11Cys		Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	g	9.030	0.986960	0.18889	.	.	ENSG00000136696	ENST00000259213;ENST00000327407	T;T	0.17528	2.27;2.27	3.21	-6.43	0.01926	.	5.467410	0.00166	N	0.000003	T	0.18964	0.0455	L	0.34521	1.04	0.09310	N	1	P;B	0.46512	0.879;0.0	P;B	0.55161	0.77;0.001	T	0.38265	-0.9669	10	0.40728	T	0.16	.	1.4437	0.02360	0.1639:0.126:0.3105:0.3997	.	11;11	Q9NZH7-2;Q9NZH7	.;IL36B_HUMAN	C	11	ENSP00000259213:S11C;ENSP00000328420:S11C	ENSP00000259213:S11C	S	-	2	0	IL36B	113505185	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.366000	0.01078	-2.607000	0.00447	-1.318000	0.01297	TCC		0.463	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		C	113788714	G	C	113788714	3	2	610	1	0	0	0	0	1	0	0	0	7658	1174	41	4	695	4	IL1F8	2	113788714	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	84936744	113788714	129410659	8	33420											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179667069	179667069	+	Splice_Site	SNP	C	C	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr2:179667069C>T	ENST00000591111.1	-	3	316		c.e3-1		TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000360870.5_Splice_Site			Q8WZ42	TITIN_HUMAN	titin						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)			ACTGGAAAACCTGAAGAGCAA	0.502																																																0													57	48	51					2																	179667069		2203	4300	6503	SO:0001630	splice_region_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92-1G>A	2.37:g.179667069C>T			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	Splice_Site	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	26.9	4.783037	0.90282	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000412264	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.919	0.97077	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179375314	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.629000	0.83207	2.707000	0.92482	0.655000	0.94253	.		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	T	179667069	C	T	179667069	5	4	610	1	0	0	0	0	0	0	1	0	16740	695	24	2	111337	2	TTN	2	179667069	Splice_Site	SNP	C	TCGA-DV-5565-01A-01D-1534-10	65878355	179667069	63532304	9	33421											
ZNF860	344787	hgsc.bcm.edu;ucsc.edu	37	3	32031883	32031883	+	Missense_Mutation	SNP	C	C	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr3:32031883C>A	ENST00000360311.4	+	2	1861	c.1312C>A	c.(1312-1314)Cgt>Agt	p.R438S		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TTTTAGACGTCGTTCATATCT	0.378																																																0													122	109	113					3																	32031883		692	1591	2283	SO:0001583	missense	344787			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1312C>A	3.37:g.32031883C>A	ENSP00000373274:p.Arg438Ser		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.977690	0.00452	.	.	ENSG00000197385	ENST00000360311	T	0.14391	2.51	0.131	-0.261	0.12963	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05686	0.0149	N	0.11845	0.185	0.09310	N	1	B	0.28667	0.219	B	0.19666	0.026	T	0.41197	-0.9522	8	.	.	.	.	4.7517	0.13064	0.0:0.6653:0.0:0.3347	.	438	A6NHJ4	ZN860_HUMAN	S	438	ENSP00000373274:R438S	.	R	+	1	0	ZNF860	32006887	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-0.062000	0.11674	-1.204000	0.02648	-1.197000	0.01672	CGT		0.378	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			A	32031883	C	A	32031883	3	1	610	1	0	0	0	0	1	0	0	0	18199	884	31	4	1314	4	ZNF860	3	32031883	Missense_Mutation	SNP	C	TCGA-DV-5565-01A-01D-1534-10		32031883	165990547	10	33422											
C4orf14	84273	hgsc.bcm.edu	37	4	57842799	57842800	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr4:57842799_57842800delGC	ENST00000264230.4	-	1	2189_2190	c.952_953delGC	c.(952-954)gccfs	p.A318fs	POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	318	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GCCGGTCTTGGCGCTGATCAGC	0.644																																																0																																										SO:0001589	frameshift_variant	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.952_953delGC	4.37:g.57842801_57842802delGC	ENSP00000264230:p.Ala318fs		Q8N7L6|Q9BSQ9	Frame_Shift_Del	DEL	ENST00000264230.4	37	CCDS3510.1																																																																																				0.644	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		-	57842800	GC	-	57842799	7	5	610	1	0	1	0	1	0	0	0	0	2253	1203	42	0	1171	0	C4orf14	4	57842799	Frame_Shift_Del	DEL	GC	TCGA-DV-5565-01A-01D-1534-10		57842799	133311477	11	33423											
ANKRD17	26057	hgsc.bcm.edu;ucsc.edu	37	4	74017194	74017194	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr4:74017194C>T	ENST00000358602.4	-	7	1398	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.E315K|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E428K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	428					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTTTATGCTCTTGATCCGCG	0.358																																																0													95	89	91					4																	74017194		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1282G>A	4.37:g.74017194C>T	ENSP00000351416:p.Glu428Lys		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	37	6.089089	0.97271	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.15952	2.38;2.38;2.38	5.66	5.66	0.87406	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000003	T	0.36524	0.0970	L	0.45228	1.405	0.48762	D	0.999703	P;P;P;P;D	0.55605	0.677;0.863;0.931;0.944;0.972	B;P;P;D;D	0.68353	0.15;0.881;0.66;0.957;0.956	T	0.01309	-1.1389	10	0.51188	T	0.08	.	19.7417	0.96234	0.0:1.0:0.0:0.0	.	13;428;428;428;315	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	K	428;428;428;315;428	ENSP00000351416:E428K;ENSP00000332265:E428K;ENSP00000427151:E315K	ENSP00000332265:E428K	E	-	1	0	ANKRD17	74236058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.667000	0.90743	0.563000	0.77884	GAG		0.358	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		T	74017194	C	T	74017194	3	4	610	1	0	0	0	0	1	0	0	0	646	922	32	2	6641	2	ANKRD17	4	74017194	Missense_Mutation	SNP	C	TCGA-DV-5565-01A-01D-1534-10	16174395	74017194	117137082	12	33424											
AFF1	4299	hgsc.bcm.edu;ucsc.edu	37	4	88029399	88029399	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr4:88029399G>T	ENST00000307808.6	+	10	1864	c.1444G>T	c.(1444-1446)Gac>Tac	p.D482Y	AFF1_ENST00000395146.4_Missense_Mutation_p.D489Y|AFF1_ENST00000544085.1_Missense_Mutation_p.D120Y	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	482					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CAGTTCCTCAGACTCAGAGAG	0.547																																																0													109	101	104					4																	88029399		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1444G>T	4.37:g.88029399G>T	ENSP00000305689:p.Asp482Tyr		B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	CCDS3616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.309352|4.309352	0.81247|0.81247	.|.	.|.	ENSG00000172493|ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970|ENST00000541943	T;T;T;T;T|.	0.79454|.	-1.27;-1.27;-1.27;-1.27;-1.27|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.128506|.	0.53938|.	D|.	0.000060|.	D|D	0.84170|0.84170	0.5413|0.5413	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.85276|0.85276	0.1059|0.1059	10|6	0.72032|0.66056	D|D	0.01|0.02	-18.8568|-18.8568	20.2985|20.2985	0.98592|0.98592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	489;482;482|.	E9PBM3;Q14C88;P51825|.	.;.;AFF1_HUMAN|.	Y|H	489;482;120;120;173|141	ENSP00000378578:D489Y;ENSP00000305689:D482Y;ENSP00000424766:D120Y;ENSP00000440843:D120Y;ENSP00000424881:D173Y|.	ENSP00000305689:D482Y|ENSP00000446349:Q141H	D|Q	+|+	1|3	0|2	AFF1|AFF1	88248423|88248423	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.979000|0.979000	0.70002|0.70002	6.917000|6.917000	0.75782|0.75782	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAC|CAG		0.547	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		T	88029399	G	T	88029399	3	4	610	1	0	0	0	0	1	0	0	0	356	942	33	4	1524	4	AFF1	4	88029399	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	14012205	88029399	103124877	13	33425											
FBN2	2201	hgsc.bcm.edu;ucsc.edu	37	5	127613688	127613688	+	Missense_Mutation	SNP	T	T	G			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr5:127613688T>G	ENST00000508053.1	-	64	8329	c.7355A>C	c.(7354-7356)gAa>gCa	p.E2452A	FBN2_ENST00000262464.4_Missense_Mutation_p.E2452A			P35556	FBN2_HUMAN	fibrillin 2	2452	EGF-like 41; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACCTTACATTCATCAATATC	0.403																																																0													146	123	131					5																	127613688		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7355A>C	5.37:g.127613688T>G	ENSP00000424571:p.Glu2452Ala		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.654162	0.88056	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.98849	-5.18;-5.18	5.16	5.16	0.70880	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.348665	0.25310	N	0.031596	D	0.99296	0.9754	M	0.92317	3.295	0.58432	D	0.999996	D	0.69078	0.997	D	0.80764	0.994	D	0.99084	1.0838	10	0.72032	D	0.01	.	15.4374	0.75157	0.0:0.0:0.0:1.0	.	2452	P35556	FBN2_HUMAN	A	2452	ENSP00000262464:E2452A;ENSP00000424571:E2452A	ENSP00000262464:E2452A	E	-	2	0	FBN2	127641587	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.825000	0.86693	2.289000	0.77006	0.482000	0.46254	GAA		0.403	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		G	127613688	T	G	127613688	3	3	610	1	0	0	0	0	1	0	0	0	5705	1783	62	5	1415	5	FBN2	5	127613688	Missense_Mutation	SNP	T	TCGA-DV-5565-01A-01D-1534-10		127613688	53301572	14	33426											
HMMR	3161	hgsc.bcm.edu	37	5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																																0																																										SO:0001589	frameshift_variant	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		A	162917426	-	A	162917425	7	5	610	1	0	1	1	0	0	0	0	0	7244	1509	53	0	2058	0	HMMR	5	162917425	Frame_Shift_Ins	INS	-	TCGA-DV-5565-01A-01D-1534-10	35303737	162917425	17997835	15	33427											
STX1A	6804	hgsc.bcm.edu;ucsc.edu	37	7	73123410	73123410	+	Missense_Mutation	SNP	C	C	G			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr7:73123410C>G	ENST00000222812.3	-	2	99	c.73G>C	c.(73-75)Gac>Cac	p.D25H	STX1A_ENST00000395156.3_Missense_Mutation_p.D25H|STX1A_ENST00000395155.3_Missense_Mutation_p.D25H|STX1A_ENST00000395154.3_Missense_Mutation_p.D25H|MIR4284_ENST00000578924.1_RNA	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	25					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGGTCTCGGTCCACGGTGACA	0.587																																																0													201	162	175					7																	73123410		2203	4300	6503	SO:0001583	missense	6804				CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.73G>C	7.37:g.73123410C>G	ENSP00000222812:p.Asp25His		O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	CCDS34655.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238449	0.79800	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.87	4.87	0.63330	Syntaxin, N-terminal (1);	0.180500	0.46758	D	0.000269	T	0.57784	0.2077	M	0.71581	2.175	0.54753	D	0.999989	D;D;D	0.71674	0.998;0.987;0.998	P;P;P	0.57468	0.747;0.821;0.747	T	0.59161	-0.7506	10	0.40728	T	0.16	-48.3025	15.5246	0.75894	0.0:1.0:0.0:0.0	.	25;25;25	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	H	25	ENSP00000222812:D25H;ENSP00000378585:D25H;ENSP00000378583:D25H;ENSP00000378584:D25H	ENSP00000222812:D25H	D	-	1	0	STX1A	72761346	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.868000	0.69605	2.258000	0.74832	0.561000	0.74099	GAC		0.587	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		G	73123410	C	G	73123410	3	3	610	1	0	0	0	0	1	0	0	0	15348	855	30	4	829	4	STX1A	7	73123410	Missense_Mutation	SNP	C	TCGA-DV-5565-01A-01D-1534-10		73123410	86015253	16	33428											
AKAP9	10142	hgsc.bcm.edu;ucsc.edu	37	7	91722542	91722542	+	Missense_Mutation	SNP	C	C	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr7:91722542C>A	ENST00000359028.2	+	39	9727	c.9502C>A	c.(9502-9504)Ctg>Atg	p.L3168M	AKAP9_ENST00000358100.2_Missense_Mutation_p.L3114M|AKAP9_ENST00000356239.3_Missense_Mutation_p.L3164M			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3168					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGTTGCTGAACTGAAGAGTGA	0.463			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													114	107	109					7																	91722542		2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9502C>A	7.37:g.91722542C>A	ENSP00000351922:p.Leu3168Met		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	12.27	1.886764	0.33348	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.18338	2.35;2.35;2.44;2.22	5.77	5.77	0.91146	.	0.000000	0.32068	N	0.006624	T	0.42245	0.1194	M	0.71296	2.17	0.50171	D	0.999855	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0	P;D;D;D;D	0.81914	0.849;0.995;0.988;0.995;0.995	T	0.13548	-1.0505	10	0.72032	D	0.01	.	15.8031	0.78471	0.0:0.8647:0.1353:0.0	.	439;3168;3168;3164;3156	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	M	3164;3168;3114;3168;1010	ENSP00000348573:L3164M;ENSP00000351922:L3168M;ENSP00000350813:L3114M;ENSP00000378042:L1010M	ENSP00000348573:L3164M	L	+	1	2	AKAP9	91560478	0.936000	0.31750	0.989000	0.46669	0.093000	0.18481	1.487000	0.35540	2.885000	0.99019	0.655000	0.94253	CTG		0.463	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		A	91722542	C	A	91722542	3	1	610	1	0	0	0	0	1	0	0	0	459	564	20	4	9644	4	AKAP9	7	91722542	Missense_Mutation	SNP	C	TCGA-DV-5565-01A-01D-1534-10	18599132	91722542	67416121	17	33429											
ST7	7982	hgsc.bcm.edu;ucsc.edu	37	7	116849867	116849867	+	Missense_Mutation	SNP	C	C	G			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr7:116849867C>G	ENST00000393446.2	+	12	1515	c.1212C>G	c.(1210-1212)atC>atG	p.I404M	ST7_ENST00000393443.1_Missense_Mutation_p.I354M|ST7_ENST00000393444.3_Missense_Mutation_p.I361M|ST7_ENST00000265437.5_Missense_Mutation_p.I427M|ST7_ENST00000393449.1_Missense_Mutation_p.I427M|ST7_ENST00000432298.1_Missense_Mutation_p.I381M|ST7_ENST00000393451.3_Missense_Mutation_p.I404M|ST7_ENST00000323984.3_Missense_Mutation_p.I427M|ST7_ENST00000393447.4_Missense_Mutation_p.I384M|ST7_ENST00000422922.1_Missense_Mutation_p.I358M			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AAAGCTTAATCCTACCCCCAG	0.378																																																0													77	69	72					7																	116849867		2203	4300	6503	SO:0001583	missense	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.1212C>G	7.37:g.116849867C>G	ENSP00000377092:p.Ile404Met		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37		.	.	.	.	.	.	.	.	.	.	C	15.97	2.989920	0.54041	.	.	ENSG00000004866	ENST00000393446;ENST00000265437;ENST00000393451;ENST00000323984;ENST00000393449;ENST00000446490;ENST00000432298;ENST00000422922;ENST00000393443;ENST00000393447;ENST00000393444;ENST00000490039	T;T;T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.14	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D	0.67145	0.996;0.994;0.996;0.993;0.981;0.988;0.979	D;D;D;D;D;D;P	0.78314	0.991;0.973;0.991;0.923;0.936;0.977;0.905	T	0.39563	-0.9608	10	0.72032	D	0.01	-12.1332	5.3292	0.15922	0.1434:0.6127:0.0:0.2438	.	375;384;404;354;381;404;427	C9JU30;B7Z4L1;B7Z573;Q9NRC1-6;B7Z4U3;Q9NRC1-2;Q9NRC1	.;.;.;.;.;.;ST7_HUMAN	M	404;427;404;427;427;404;381;358;354;384;361;375	ENSP00000377092:I404M;ENSP00000265437:I427M;ENSP00000377097:I404M;ENSP00000325673:I427M;ENSP00000377095:I427M;ENSP00000402934:I404M;ENSP00000411118:I381M;ENSP00000414031:I358M;ENSP00000377089:I354M;ENSP00000377093:I384M;ENSP00000377090:I361M;ENSP00000419516:I375M	ENSP00000265437:I427M	I	+	3	3	ST7	116637103	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.546000	0.23284	0.566000	0.29273	0.561000	0.74099	ATC		0.378	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		G	116849867	C	G	116849867	3	3	610	1	0	0	0	0	1	0	0	0	15234	845	30	4	1331	4	ST7	7	116849867	Missense_Mutation	SNP	C	TCGA-DV-5565-01A-01D-1534-10	25127325	116849867	42288796	18	33430											
LEP	3952	hgsc.bcm.edu;ucsc.edu	37	7	127894682	127894682	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr7:127894682G>A	ENST00000308868.4	+	3	421	c.370G>A	c.(370-372)Ggc>Agc	p.G124S		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	124					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						CTGGGCCAGTGGCCTGGAGAC	0.592																																																0													48	49	49					7																	127894682		2203	4300	6503	SO:0001583	missense	3952				CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"leptin (murine obesity homolog)", "leptin (obesity homolog, mouse)"	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.370G>A	7.37:g.127894682G>A	ENSP00000312652:p.Gly124Ser		O15158|Q56A88	Missense_Mutation	SNP	ENST00000308868.4	37	CCDS5800.1	.	.	.	.	.	.	.	.	.	.	G	8.603	0.887267	0.17540	.	.	ENSG00000174697	ENST00000308868	T	0.72167	-0.63	5.76	2.82	0.32997	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.716733	0.13112	N	0.412877	T	0.63295	0.2499	L	0.54323	1.7	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.21546	0.035;0.035	T	0.52223	-0.8604	10	0.33940	T	0.23	-28.7053	7.2538	0.26164	0.2964:0.0:0.7036:0.0	.	124;124	A4D0Y8;P41159	.;LEP_HUMAN	S	124	ENSP00000312652:G124S	ENSP00000312652:G124S	G	+	1	0	LEP	127681918	0.010000	0.17322	0.000000	0.03702	0.106000	0.19336	1.235000	0.32671	0.287000	0.22375	0.655000	0.94253	GGC		0.592	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349174.1			A	127894682	G	A	127894682	3	1	610	1	0	0	0	0	1	0	0	0	8729	1348	47	2	376	2	LEP	7	127894682	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	11044815	127894682	31243981	19	33431											
C8orf42	157695	hgsc.bcm.edu;ucsc.edu	37	8	444511	444511	+	Silent	SNP	T	T	C			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr8:444511T>C	ENST00000324079.6	-	2	435	c.195A>G	c.(193-195)aaA>aaG	p.K65K	TDRP_ENST00000523656.1_Silent_p.K65K|TDRP_ENST00000524229.1_5'UTR|TDRP_ENST00000427263.2_Silent_p.K65K			Q86YL5	TDRP_HUMAN	testis development related protein	65					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACTTGGGAGATTTACATCTTT	0.413																																																0													143	130	134					8																	444511		1952	4137	6089	SO:0001819	synonymous_variant	157695			AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 42"	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.195A>G	8.37:g.444511T>C			B6VF03|B9EG53	Silent	SNP	ENST00000324079.6	37	CCDS47759.1																																																																																				0.413	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1	NM_175075		C	444511	T	C	444511	2	2	610	1	0	0	0	0	0	0	0	1	2430	1490	52	3		3	C8orf42	8	444511	Silent	SNP	T	TCGA-DV-5565-01A-01D-1534-10		444511	145919511	20	33432											
DPYS	1807	hgsc.bcm.edu;ucsc.edu	37	8	105440278	105440278	+	Missense_Mutation	SNP	T	T	C			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr8:105440278T>C	ENST00000351513.2	-	6	1154	c.1022A>G	c.(1021-1023)gAt>gGt	p.D341G	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	341					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGTAAAATCATCCTTCCC	0.458																																																0													158	153	155					8																	105440278		2203	4300	6503	SO:0001583	missense	1807			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1022A>G	8.37:g.105440278T>C	ENSP00000276651:p.Asp341Gly			Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.908238	0.92107	.	.	ENSG00000147647	ENST00000351513	D	0.91180	-2.8	5.95	5.95	0.96441	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.045624	0.85682	D	0.000000	D	0.95881	0.8659	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.96443	0.9328	10	0.87932	D	0	-27.8086	16.4237	0.83790	0.0:0.0:0.0:1.0	.	341	Q14117	DPYS_HUMAN	G	341	ENSP00000276651:D341G	ENSP00000276651:D341G	D	-	2	0	DPYS	105509454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	GAT		0.458	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		C	105440278	T	C	105440278	3	2	610	1	0	0	0	0	1	0	0	0	4748	1435	50	3	553	3	DPYS	8	105440278	Missense_Mutation	SNP	T	TCGA-DV-5565-01A-01D-1534-10	104995767	105440278	40923744	21	33433											
ENY2	56943	hgsc.bcm.edu;ucsc.edu	37	8	110355657	110355657	+	Missense_Mutation	SNP	A	A	C			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr8:110355657A>C	ENST00000521662.1	+	5	326	c.238A>C	c.(238-240)Aag>Cag	p.K80Q	ENY2_ENST00000522407.1_3'UTR|ENY2_ENST00000521688.1_Missense_Mutation_p.K85Q|ENY2_ENST00000520147.1_3'UTR					enhancer of yellow 2 homolog (Drosophila)											endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			CAGTGTAAAGAAGGAGCTCCT	0.333																																																0													156	150	152					8																	110355657		1832	4081	5913	SO:0001583	missense	56943				CCDS43762.1, CCDS55270.1	8q23.1	2005-08-16			ENSG00000120533	ENSG00000120533			24449	protein-coding gene	gene with protein product						11438676	Standard	NM_020189		Approved	DC6, FLJ20480	uc003ynd.3	Q9NPA8	OTTHUMG00000164933	ENST00000521662.1:c.238A>C	8.37:g.110355657A>C	ENSP00000429713:p.Lys80Gln			Missense_Mutation	SNP	ENST00000521662.1	37	CCDS55270.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.233237	0.39498	.	.	ENSG00000120533	ENST00000521662;ENST00000521688	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.33668	1.02	0.80722	D	1	B	0.15473	0.013	B	0.20577	0.03	T	0.46373	-0.9196	9	0.15499	T	0.54	-4.488	15.2309	0.73386	1.0:0.0:0.0:0.0	.	85	Q9NPA8	ENY2_HUMAN	Q	80;85	.	ENSP00000429713:K80Q	K	+	1	0	ENY2	110424833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.927000	0.87577	2.272000	0.75746	0.460000	0.39030	AAG		0.333	ENY2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381002.1	NM_020189		C	110355657	A	C	110355657	3	2	610	1	0	0	0	0	1	0	0	0	5148	247	9	5	271	5	ENY2	8	110355657	Missense_Mutation	SNP	A	TCGA-DV-5565-01A-01D-1534-10	4915379	110355657	36008365	22	33434											
C9orf93	203238	hgsc.bcm.edu;ucsc.edu	37	9	15723685	15723685	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr9:15723685G>A	ENST00000380701.3	+	13	1760	c.1432G>A	c.(1432-1434)Gca>Aca	p.A478T	CCDC171_ENST00000297641.3_Missense_Mutation_p.A478T	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	478																	TAAGGAAAAGGCATGTAATGA	0.269																																																0													43	45	44					9																	15723685		2199	4264	6463	SO:0001583	missense	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1432G>A	9.37:g.15723685G>A	ENSP00000370077:p.Ala478Thr		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	4.929	0.172549	0.09391	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.43294	0.95;0.95	5.77	-8.39	0.00969	.	0.982293	0.08349	N	0.959527	T	0.12008	0.0292	N	0.01874	-0.695	0.09310	N	0.999995	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30504	-0.9976	10	0.13470	T	0.59	3.9239	7.0966	0.25313	0.5646:0.0802:0.2743:0.0809	.	486;478;478	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	T	478	ENSP00000297641:A478T;ENSP00000370077:A478T	ENSP00000297641:A478T	A	+	1	0	C9orf93	15713685	0.001000	0.12720	0.018000	0.16275	0.908000	0.53690	-0.276000	0.08514	-1.553000	0.01702	-0.140000	0.14226	GCA		0.269	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		A	15723685	G	A	15723685	3	1	610	1	0	0	0	0	1	0	0	0	2508	1203	42	2	1478	2	C9orf93	9	15723685	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10		15723685	125489746	23	33435											
IFNA6	3443	hgsc.bcm.edu;ucsc.edu	37	9	21350656	21350656	+	Silent	SNP	G	G	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr9:21350656G>T	ENST00000380210.1	-	1	721	c.231C>A	c.(229-231)atC>atA	p.I77I		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	77					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGAGGACAGAGATGGCTTCAG	0.478																																																0													109	106	107					9																	21350656		2203	4300	6503	SO:0001819	synonymous_variant	3443				CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"Interferons"	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.231C>A	9.37:g.21350656G>T			Q5VYQ1	Silent	SNP	ENST00000380210.1	37	CCDS6504.1																																																																																				0.478	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		T	21350656	G	T	21350656	2	4	610	1	0	0	0	0	0	0	0	1	7543	932	33	4		4	IFNA6	9	21350656	Silent	SNP	G	TCGA-DV-5565-01A-01D-1534-10	5626971	21350656	119862775	24	33436											
PRUNE2	158471	hgsc.bcm.edu;ucsc.edu	37	9	79324116	79324116	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr9:79324116G>C	ENST00000376718.3	-	8	3197	c.3074C>G	c.(3073-3075)tCa>tGa	p.S1025*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.S666*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1025					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCCAGGACCTGAACTGATTCG	0.443																																																0													131	104	112					9																	79324116		1568	3582	5150	SO:0001587	stop_gained	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3074C>G	9.37:g.79324116G>C	ENSP00000365908:p.Ser1025*		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.464743|6.464743	0.97590|0.97590	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.000000	.|0.46442	.|D	.|0.000291	T|.	0.78227|.	0.4250|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79398|.	-0.1820|.	4|.	.|0.87932	.|D	.|0	-13.9129|-13.9129	18.5438|18.5438	0.91039|0.91039	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	346|1025;666;1024	.|.	.|ENSP00000365908:S1025X	F|S	-|-	3|2	2|0	PRUNE2|PRUNE2	78513936|78513936	0.980000|0.980000	0.34600|0.34600	0.977000|0.977000	0.42913|0.42913	0.709000|0.709000	0.40893|0.40893	3.640000|3.640000	0.54350|0.54350	2.826000|2.826000	0.97356|0.97356	0.561000|0.561000	0.74099|0.74099	TTC|TCA		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		C	79324116	G	C	79324116	4	2	610	1	0	0	0	0	0	1	0	0	12646	1294	45	4	6240	4	PRUNE2	9	79324116	Nonsense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	57973460	79324116	61889315	25	33437											
COL27A1	85301	hgsc.bcm.edu;ucsc.edu	37	9	116931547	116931547	+	Missense_Mutation	SNP	T	T	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr9:116931547T>A	ENST00000356083.3	+	3	2103	c.1712T>A	c.(1711-1713)cTg>cAg	p.L571Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	571	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGAGCGATCTGACAACCAGG	0.672																																																0													70	88	82					9																	116931547		2203	4300	6503	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1712T>A	9.37:g.116931547T>A	ENSP00000348385:p.Leu571Gln		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	T	4.306	0.056142	0.08291	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.92348	-2.62;-3.02	5.41	-5.42	0.02640	.	.	.	.	.	T	0.80989	0.4730	N	0.19112	0.55	0.09310	N	1	B;B	0.16166	0.003;0.016	B;B	0.12156	0.002;0.007	T	0.66685	-0.5861	9	0.13108	T	0.6	.	8.6863	0.34240	0.1252:0.1359:0.0:0.7389	.	571;518	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	Q	571;571;518;518	ENSP00000348385:L571Q;ENSP00000391328:L518Q	ENSP00000348385:L571Q	L	+	2	0	COL27A1	115971368	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.668000	0.01959	-0.875000	0.04022	0.460000	0.39030	CTG		0.672	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		A	116931547	T	A	116931547	3	1	610	1	0	0	0	0	1	0	0	0	3687	1580	55	5	1722	5	COL27A1	9	116931547	Missense_Mutation	SNP	T	TCGA-DV-5565-01A-01D-1534-10	37607431	116931547	24281884	26	33438											
PDCL	5082	hgsc.bcm.edu;ucsc.edu	37	9	125585437	125585437	+	Missense_Mutation	SNP	T	T	G			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr9:125585437T>G	ENST00000259467.4	-	3	377	c.212A>C	c.(211-213)cAg>cCg	p.Q71P		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	71					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TGTCTCCAACTGCTTGAAGCG	0.542																																																0													187	169	175					9																	125585437		2203	4300	6503	SO:0001583	missense	5082			AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.212A>C	9.37:g.125585437T>G	ENSP00000259467:p.Gln71Pro		Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.790767	0.90367	.	.	ENSG00000136940	ENST00000259467	T	0.14640	2.49	5.98	5.98	0.97165	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.27088	-1.0084	10	0.87932	D	0	-25.6362	15.6496	0.77081	0.0:0.0:0.0:1.0	.	71;71	Q4VXB6;Q13371	.;PHLP_HUMAN	P	71	ENSP00000259467:Q71P	ENSP00000259467:Q71P	Q	-	2	0	PDCL	124625258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.601000	0.82783	2.289000	0.77006	0.460000	0.39030	CAG		0.542	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		G	125585437	T	G	125585437	3	3	610	1	0	0	0	0	1	0	0	0	11628	1580	55	5	701	5	PDCL	9	125585437	Missense_Mutation	SNP	T	TCGA-DV-5565-01A-01D-1534-10	8653890	125585437	15627994	27	33439											
CDHR5	53841	hgsc.bcm.edu;ucsc.edu	37	11	619336	619336	+	Missense_Mutation	SNP	G	G	C			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr11:619336G>C	ENST00000358353.3	-	13	1670	c.1348C>G	c.(1348-1350)Caa>Gaa	p.Q450E	CDHR5_ENST00000397542.2_Missense_Mutation_p.Q450E|CDHR5_ENST00000349570.7_Missense_Mutation_p.Q450E			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TCGGAAACTTGTATCTCAATG	0.602																																																0													59	59	59					11																	619336		2203	4299	6502	SO:0001583	missense	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1348C>G	11.37:g.619336G>C	ENSP00000351118:p.Gln450Glu		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.122940	0.37436	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000349570	T;T;T	0.40756	1.11;1.11;1.02	3.84	2.92	0.33932	Cadherin (2);	.	.	.	.	T	0.36248	0.0960	L	0.32530	0.975	0.09310	N	1	P;P;P	0.50943	0.94;0.94;0.94	P;P;P	0.50659	0.546;0.465;0.647	T	0.09618	-1.0666	9	0.16420	T	0.52	-0.2733	7.2289	0.26030	0.1229:0.0:0.8771:0.0	.	450;450;450	Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;CDHR5_HUMAN	E	450	ENSP00000380676:Q450E;ENSP00000351118:Q450E;ENSP00000345726:Q450E	ENSP00000345726:Q450E	Q	-	1	0	CDHR5	609336	0.001000	0.12720	0.001000	0.08648	0.097000	0.18754	0.789000	0.26886	0.974000	0.38366	0.462000	0.41574	CAA		0.602	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		C	619336	G	C	619336	3	2	610	1	0	0	0	0	1	0	0	0	3124	1386	48	4	1205	4	CDHR5	11	619336	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10		619336	134387180	28	33440											
QSER1	79832	hgsc.bcm.edu;ucsc.edu	37	11	32953537	32953537	+	Missense_Mutation	SNP	G	G	C			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr11:32953537G>C	ENST00000399302.2	+	4	681	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	QSER1_ENST00000527250.1_3'UTR|QSER1_ENST00000527788.1_Missense_Mutation_p.E116Q	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	116										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTTGGCATTTGAGCGCCTGGG	0.423																																																0													129	124	126					11																	32953537		1893	4121	6014	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.346G>C	11.37:g.32953537G>C	ENSP00000382241:p.Glu116Gln		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045696	0.55110	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.48201	0.82;0.82	5.48	4.54	0.55810	.	0.000000	0.64402	D	0.000004	T	0.60728	0.2291	L	0.60455	1.87	0.18873	N	0.999988	D;D	0.67145	0.996;0.993	P;P	0.61477	0.889;0.777	T	0.53443	-0.8438	10	0.36615	T	0.2	.	15.6904	0.77446	0.0:0.0:0.8627:0.1373	.	116;116	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	Q	116	ENSP00000382241:E116Q;ENSP00000432766:E116Q	ENSP00000078652:E116Q	E	+	1	0	QSER1	32910113	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.703000	0.68340	2.579000	0.87056	0.655000	0.94253	GAG		0.423	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		C	32953537	G	C	32953537	3	2	610	1	0	0	0	0	1	0	0	0	12888	1291	45	4	352	4	QSER1	11	32953537	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	32334201	32953537	102052979	29	33441											
NARS2	79731	hgsc.bcm.edu	37	11	78277313	78277313	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr11:78277313G>T	ENST00000281038.5	-	4	753	c.378C>A	c.(376-378)ttC>ttA	p.F126L	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	126					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	ATTTGATGGGGAAATCCTGCC	0.373																																																0													48	49	49					11																	78277313		2200	4291	6491	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.378C>A	11.37:g.78277313G>T	ENSP00000281038:p.Phe126Leu		G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865146	0.71949	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.74526	-0.85;1.08	5.13	4.2	0.49525	.	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.86805	2.84	0.80722	D	1	D	0.69078	0.997	P	0.59171	0.853	D	0.85713	0.1320	10	0.87932	D	0	-12.8612	9.6633	0.39969	0.1659:0.0:0.8341:0.0	.	126	Q96I59	SYNM_HUMAN	L	126	ENSP00000281038:F126L;ENSP00000432240:F126L	ENSP00000281038:F126L	F	-	3	2	NARS2	77954961	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.590000	0.36654	1.259000	0.44117	0.655000	0.94253	TTC		0.373	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		T	78277313	G	T	78277313	3	4	610	1	0	0	0	0	1	0	0	0	10173	1165	41	4	1099	4	NARS2	11	78277313	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	45323776	78277313	56729203	30	33442											
SLC37A4	2542	hgsc.bcm.edu;ucsc.edu	37	11	118899998	118899998	+	Missense_Mutation	SNP	G	G	A	rs193302882		TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr11:118899998G>A	ENST00000545985.1	-	3	838	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000330775.7_Missense_Mutation_p.R28C|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_Missense_Mutation_p.R28C	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	28			R -> C (in GSD1B; dbSNP:rs193302882). {ECO:0000269|PubMed:9758626}.|R -> H (in GSD1B; inactive glucose-6- phosphate transport; dbSNP:rs121908978). {ECO:0000269|PubMed:10026167, ECO:0000269|PubMed:11949931}.		carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AAGGTCTTGCGATTGAAGTAA	0.522																																																0													96	96	96					11																	118899998		2047	4191	6238	SO:0001583	missense	2542			Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"Solute carriers"	4061	protein-coding gene	gene with protein product		602671	"glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.82C>T	11.37:g.118899998G>A	ENSP00000475241:p.Arg28Cys		O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37																																																																																					0.522	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		A	118899998	G	A	118899998	3	1	610	1	0	0	0	0	1	0	0	0	14606	1058	37	1	1310	1	SLC37A4	11	118899998	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	40622685	118899998	16106518	31	33443											
CCDC15	80071	hgsc.bcm.edu;ucsc.edu	37	11	124910539	124910539	+	Missense_Mutation	SNP	A	A	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr11:124910539A>T	ENST00000344762.5	+	16	3047	c.2788A>T	c.(2788-2790)Aat>Tat	p.N930Y	CCDC15_ENST00000529051.1_Missense_Mutation_p.N941Y|CCDC15_ENST00000530061.1_3'UTR	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	930						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CCCTGGGGGTAATTCAACTCT	0.368																																																0													57	56	56					11																	124910539		1837	4084	5921	SO:0001583	missense	80071			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2788A>T	11.37:g.124910539A>T	ENSP00000341684:p.Asn930Tyr		Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.377265	0.24944	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.36157	1.27;1.27	5.13	2.67	0.31697	.	.	.	.	.	T	0.39989	0.1099	L	0.50333	1.59	0.09310	N	1	D	0.53462	0.96	P	0.51918	0.684	T	0.18335	-1.0340	9	0.59425	D	0.04	-3.5557	6.2753	0.20977	0.6079:0.3107:0.0814:0.0	.	930	Q0P6D6	CCD15_HUMAN	Y	941;930	ENSP00000435403:N941Y;ENSP00000341684:N930Y	ENSP00000341684:N930Y	N	+	1	0	CCDC15	124415749	0.140000	0.22579	0.202000	0.23494	0.122000	0.20287	1.055000	0.30467	0.361000	0.24292	0.533000	0.62120	AAT		0.368	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		T	124910539	A	T	124910539	3	4	610	1	0	0	0	0	1	0	0	0	2786	362	13	5	2846	5	CCDC15	11	124910539	Missense_Mutation	SNP	A	TCGA-DV-5565-01A-01D-1534-10	6010541	124910539	10095977	32	33444											
PABPC3	5042	hgsc.bcm.edu;ucsc.edu	37	13	25670499	25670499	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr13:25670499G>A	ENST00000281589.3	+	1	200	c.163G>A	c.(163-165)Gcg>Acg	p.A55T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	55	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCCAACTACGCGTATGTGAA	0.547																																																0													85	79	81					13																	25670499		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.163G>A	13.37:g.25670499G>A	ENSP00000281589:p.Ala55Thr		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971112	0.53614	.	.	ENSG00000151846	ENST00000281589	T	0.14640	2.49	0.546	-0.466	0.12153	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.39341	U	0.001394	T	0.35189	0.0923	H	0.94808	3.585	0.42444	D	0.992721	D	0.62365	0.991	P	0.59424	0.857	T	0.12708	-1.0537	10	0.87932	D	0	.	4.571	0.12210	0.3012:0.0:0.6988:0.0	.	55	Q9H361	PABP3_HUMAN	T	55	ENSP00000281589:A55T	ENSP00000281589:A55T	A	+	1	0	PABPC3	24568499	1.000000	0.71417	0.111000	0.21465	0.125000	0.20455	6.590000	0.74085	-0.264000	0.09365	0.305000	0.20034	GCG		0.547	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25670499	G	A	25670499	3	1	610	1	0	0	0	0	1	0	0	0	11367	1087	38	1	165	1	PABPC3	13	25670499	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10		25670499	89499379	33	33445											
PAK6	56924	hgsc.bcm.edu;ucsc.edu	37	15	40568170	40568170	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr15:40568170C>T	ENST00000542403.2	+	9	2032	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	PAK6_ENST00000560346.1_Missense_Mutation_p.R641W|PAK6_ENST00000260404.4_Missense_Mutation_p.R641W|PAK6_ENST00000453867.1_Missense_Mutation_p.R641W|PAK6_ENST00000441369.1_Missense_Mutation_p.R641W|PAK6_ENST00000455577.2_Missense_Mutation_p.R596W|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	641	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GATGCTGGTGCGGGACCCCCA	0.612																																																0													101	104	103					15																	40568170		2203	4300	6503	SO:0001583	missense	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1921C>T	15.37:g.40568170C>T	ENSP00000439597:p.Arg641Trp		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860804	0.91433	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.40476	2.5;2.5;1.03;2.5;2.5	4.48	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.64466	-0.6401	10	0.87932	D	0	.	17.3691	0.87371	0.0:1.0:0.0:0.0	.	641;596	Q9NQU5;G5E9R2	PAK6_HUMAN;.	W	641;641;596;641;641	ENSP00000406873:R641W;ENSP00000401153:R641W;ENSP00000409465:R596W;ENSP00000260404:R641W;ENSP00000439597:R641W	ENSP00000260404:R641W	R	+	1	2	PAK6	38355462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.700000	0.61803	2.322000	0.78497	0.561000	0.74099	CGG		0.612	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			T	40568170	C	T	40568170	3	4	610	1	0	0	0	0	1	0	0	0	11406	759	27	1	1951	1	PAK6	15	40568170	Missense_Mutation	SNP	C	TCGA-DV-5565-01A-01D-1534-10		40568170	61963222	34	33446											
SNX29	92017	hgsc.bcm.edu;ucsc.edu	37	16	12155455	12155455	+	Missense_Mutation	SNP	T	T	C			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr16:12155455T>C	ENST00000566228.1	+	9	1264	c.1195T>C	c.(1195-1197)Tcc>Ccc	p.S399P	SNX29_ENST00000323433.4_Missense_Mutation_p.S14P|SNX29_ENST00000306030.3_Missense_Mutation_p.S14P	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	399						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCACAATGACTCCGACATCCT	0.567																																																0													43	48	46					16																	12155455		2189	4290	6479	SO:0001583	missense	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1195T>C	16.37:g.12155455T>C	ENSP00000456480:p.Ser399Pro		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	T	11.16	1.556101	0.27827	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.7	-9.61	0.00550	.	.	.	.	.	T	0.23926	0.0579	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37798	-0.9690	8	0.66056	D	0.02	0.0649	0.5636	0.00683	0.3189:0.1594:0.1365:0.3852	.	399	Q8TEQ0	SNX29_HUMAN	P	14	.	ENSP00000306940:S14P	S	+	1	0	SNX29	12062956	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-0.349000	0.07731	-1.338000	0.02233	0.533000	0.62120	TCC		0.567	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			C	12155455	T	C	12155455	3	2	610	1	0	0	0	0	1	0	0	0	14904	1551	54	3	42	3	SNX29	16	12155455	Missense_Mutation	SNP	T	TCGA-DV-5565-01A-01D-1534-10		12155455	78199298	35	33447											
ATP2C2	9914	hgsc.bcm.edu;ucsc.edu	37	16	84472822	84472822	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr16:84472822C>T	ENST00000262429.4	+	12	1126	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.T346M	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	346					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCATGGTGACGCTGGTCCTG	0.562																																																0													75	81	79					16																	84472822		2107	4229	6336	SO:0001583	missense	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1037C>T	16.37:g.84472822C>T	ENSP00000262429:p.Thr346Met		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220405	0.58560	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.91996	-2.95;-2.95	4.91	4.91	0.64330	ATPase, P-type, ATPase-associated domain (1);	0.188384	0.37304	N	0.002158	D	0.97074	0.9044	M	0.94101	3.495	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.988;0.992;0.995	D	0.98274	1.0505	10	0.87932	D	0	.	17.0508	0.86518	0.0:1.0:0.0:0.0	.	346;195;363;346	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	M	346;346;195	ENSP00000397925:T346M;ENSP00000262429:T346M	ENSP00000262429:T346M	T	+	2	0	ATP2C2	83030323	1.000000	0.71417	0.624000	0.29186	0.049000	0.14656	7.192000	0.77771	2.255000	0.74692	0.561000	0.74099	ACG		0.562	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		T	84472822	C	T	84472822	3	4	610	1	0	0	0	0	1	0	0	0	1144	536	19	1	1083	1	ATP2C2	16	84472822	Missense_Mutation	SNP	C	TCGA-DV-5565-01A-01D-1534-10	72317367	84472822	5881931	36	33448											
OR1G1	8390	hgsc.bcm.edu;ucsc.edu	37	17	3030271	3030271	+	Missense_Mutation	SNP	G	G	C			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr17:3030271G>C	ENST00000328890.2	-	1	604	c.575C>G	c.(574-576)cCc>cGc	p.P192R		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	192					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ATTGGTGAAGGGGTCTGTGCA	0.498																																					Colon(127;1481 1654 8243 19426 50557)											0													124	120	121					17																	3030271		2203	4300	6503	SO:0001583	missense	8390			U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.575C>G	17.37:g.3030271G>C	ENSP00000331545:p.Pro192Arg		Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581734	0.28180	.	.	ENSG00000183024	ENST00000328890	T	0.00115	8.71	4.53	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.26092	0.79	0.09310	N	1	B	0.22604	0.072	B	0.16722	0.016	T	0.25152	-1.0140	9	0.87932	D	0	.	5.6205	0.17455	0.0952:0.0:0.56:0.3447	.	192	P47890	OR1G1_HUMAN	R	192	ENSP00000331545:P192R	ENSP00000331545:P192R	P	-	2	0	OR1G1	2977021	0.001000	0.12720	0.005000	0.12908	0.380000	0.30137	0.851000	0.27751	1.132000	0.42129	0.523000	0.50628	CCC		0.498	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			C	3030271	G	C	3030271	3	2	610	1	0	0	0	0	1	0	0	0	10959	1232	43	4	370	4	OR1G1	17	3030271	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10		3030271	78164939	37	33449											
UBB	7314	hgsc.bcm.edu	37	17	16285911	16285911	+	Silent	SNP	A	A	G	rs368225113		TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr17:16285911A>G	ENST00000395837.1	+	2	871	c.690A>G	c.(688-690)taA>taG	p.*230*	UBB_ENST00000535788.1_Silent_p.*154*|UBB_ENST00000578649.1_3'UTR|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.*230*|UBB_ENST00000395839.1_Silent_p.*230*	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	0					activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GTGGCTGTTAATTCTTCAGTC	0.488																																					Melanoma(163;1126 3406 34901)											0													28	27	27					17																	16285911		2203	4300	6503	SO:0001819	synonymous_variant	7314				CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.690A>G	17.37:g.16285911A>G			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	CCDS11177.1																																																																																				0.488	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		G	16285911	A	G	16285911	2	3	610	1	0	0	0	0	0	0	0	1	16846	108	4	3		3	UBB	17	16285911	Silent	SNP	A	TCGA-DV-5565-01A-01D-1534-10	13255640	16285911	64909299	38	33450											
ABHD15	116236	hgsc.bcm.edu;ucsc.edu	37	17	27889659	27889659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr17:27889659C>A	ENST00000307201.4	-	2	1497	c.1327G>T	c.(1327-1329)Gga>Tga	p.G443*	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	443						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						TGCAAGGCTCCCCCACGACGA	0.572																																																0													68	72	71					17																	27889659		2203	4300	6503	SO:0001587	stop_gained	116236			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1327G>T	17.37:g.27889659C>A	ENSP00000302657:p.Gly443*		Q96EC5	Nonsense_Mutation	SNP	ENST00000307201.4	37	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844122	0.51164	.	.	ENSG00000168792	ENST00000307201	.	.	.	5.77	4.73	0.59995	.	0.299674	0.30020	N	0.010610	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.1195	10.3669	0.44030	0.1467:0.7745:0.0:0.0788	.	.	.	.	X	443	.	ENSP00000302657:G443X	G	-	1	0	ABHD15	24913785	0.965000	0.33210	0.996000	0.52242	0.038000	0.13279	3.789000	0.55454	2.745000	0.94114	0.655000	0.94253	GGA		0.572	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		A	27889659	C	A	27889659	4	1	610	1	0	0	0	0	0	1	0	0	81	632	22	4	83	4	ABHD15	17	27889659	Nonsense_Mutation	SNP	C	TCGA-DV-5565-01A-01D-1534-10	11603748	27889659	53305551	39	33451											
ANKRD12	23253	hgsc.bcm.edu	37	18	9254693	9254693	+	Silent	SNP	G	G	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr18:9254693G>A	ENST00000262126.4	+	9	1668	c.1428G>A	c.(1426-1428)ttG>ttA	p.L476L	ANKRD12_ENST00000400020.3_Silent_p.L453L|ANKRD12_ENST00000383440.2_Silent_p.L453L	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	476						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aaagaaaattgaaaaatcaga	0.318																																																0													23	26	25					18																	9254693		2185	4283	6468	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1428G>A	18.37:g.9254693G>A			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	CCDS11843.1																																																																																				0.318	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		A	9254693	G	A	9254693	2	1	610	1	0	0	0	0	0	0	0	1	640	1281	45	2		2	ANKRD12	18	9254693	Silent	SNP	G	TCGA-DV-5565-01A-01D-1534-10		9254693	68822555	40	33452											
KIAA1632	57724	hgsc.bcm.edu;ucsc.edu	37	18	43440143	43440143	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr18:43440143G>T	ENST00000282041.5	-	40	6969	c.6935C>A	c.(6934-6936)gCc>gAc	p.A2312D	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2312					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCTCTGGCAGGCTGCTGTTAA	0.547																																																0													70	74	73					18																	43440143		1974	4156	6130	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6935C>A	18.37:g.43440143G>T	ENSP00000282041:p.Ala2312Asp		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417680	0.83449	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.14893	2.47	5.59	5.59	0.84812	.	.	.	.	.	T	0.32315	0.0825	L	0.59436	1.845	0.54753	D	0.999982	P	0.44478	0.836	P	0.49922	0.626	T	0.01504	-1.1338	9	0.72032	D	0.01	-9.4549	19.5918	0.95518	0.0:0.0:1.0:0.0	.	2312	Q9HCE0	EPG5_HUMAN	D	2312;240;1187	ENSP00000282041:A2312D	ENSP00000282041:A2312D	A	-	2	0	EPG5	41694141	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	5.510000	0.67018	2.608000	0.88229	0.655000	0.94253	GCC		0.547	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		T	43440143	G	T	43440143	3	4	610	1	0	0	0	0	1	0	0	0	8251	1203	42	4	824	4	KIAA1632	18	43440143	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	34185450	43440143	34637105	41	33453											
RTTN	25914	hgsc.bcm.edu;ucsc.edu	37	18	67684795	67684795	+	Missense_Mutation	SNP	T	T	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr18:67684795T>A	ENST00000255674.6	-	46	6555	c.6269A>T	c.(6268-6270)gAt>gTt	p.D2090V	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'Flank	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2090					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTGTTGCCCATCTTCTCCAGA	0.393																																																0													148	142	144					18																	67684795		1893	4121	6014	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6269A>T	18.37:g.67684795T>A	ENSP00000255674:p.Asp2090Val		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996552	0.54147	.	.	ENSG00000176225	ENST00000255674	T	0.52057	0.68	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.65307	-0.6200	10	0.87932	D	0	.	15.932	0.79668	0.0:0.0:0.0:1.0	.	2090	Q86VV8	RTTN_HUMAN	V	2090	ENSP00000255674:D2090V	ENSP00000255674:D2090V	D	-	2	0	RTTN	65835775	1.000000	0.71417	0.976000	0.42696	0.155000	0.21991	6.910000	0.75741	2.222000	0.72286	0.455000	0.32223	GAT		0.393	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		A	67684795	T	A	67684795	3	1	610	1	0	0	0	0	1	0	0	0	13743	1435	50	5	427	5	RTTN	18	67684795	Missense_Mutation	SNP	T	TCGA-DV-5565-01A-01D-1534-10	24244652	67684795	10392453	42	33454											
OR1M1	125963	hgsc.bcm.edu;ucsc.edu	37	19	9203934	9203934	+	Missense_Mutation	SNP	A	A	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr19:9203934A>T	ENST00000429566.3	+	1	80	c.14A>T	c.(13-15)aAc>aTc	p.N5I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GAACCAAGAAACCAAACCAGT	0.478																																																0													82	76	78					19																	9203934		2203	4300	6503	SO:0001583	missense	125963				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"GPCR / Class A : Olfactory receptors"	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.14A>T	19.37:g.9203934A>T	ENSP00000401966:p.Asn5Ile		B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	a	12.90	2.076221	0.36662	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.02197	4.4	3.31	3.31	0.37934	.	0.000000	0.64402	D	0.000010	T	0.18257	0.0438	H	0.96720	3.87	0.09310	N	0.999999	D	0.71674	0.998	D	0.78314	0.991	T	0.13150	-1.0520	10	0.87932	D	0	.	9.9536	0.41653	1.0:0.0:0.0:0.0	.	5	Q8NGA1	OR1M1_HUMAN	I	8;5	ENSP00000401966:N5I	ENSP00000303195:N8I	N	+	2	0	OR1M1	9064934	0.249000	0.23941	0.048000	0.18961	0.008000	0.06430	1.687000	0.37680	1.502000	0.48669	0.329000	0.21502	AAC		0.478	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			T	9203934	A	T	9203934	3	4	610	1	0	0	0	0	1	0	0	0	10970	43	2	5	16	5	OR1M1	19	9203934	Missense_Mutation	SNP	A	TCGA-DV-5565-01A-01D-1534-10		9203934	49925049	43	33455											
EMR2	30817	hgsc.bcm.edu;ucsc.edu	37	19	14854320	14854320	+	Missense_Mutation	SNP	C	C	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr19:14854320C>A	ENST00000315576.3	-	20	2826	c.2375G>T	c.(2374-2376)tGg>tTg	p.W792L	EMR2_ENST00000601345.1_Missense_Mutation_p.W781L|EMR2_ENST00000594294.1_Missense_Mutation_p.W743L|EMR2_ENST00000392967.2_Missense_Mutation_p.W781L|EMR2_ENST00000392965.3_Missense_Mutation_p.W734L|EMR2_ENST00000346057.1_Missense_Mutation_p.W743L|EMR2_ENST00000353876.1_Missense_Mutation_p.W699L|EMR2_ENST00000595839.1_Missense_Mutation_p.W650L|EMR2_ENST00000596991.2_Missense_Mutation_p.W781L|EMR2_ENST00000594076.1_Missense_Mutation_p.W699L|EMR2_ENST00000353005.1_Missense_Mutation_p.W650L	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	792					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCCTTTGGACCATTTCCCATA	0.542																																																0													370	344	353					19																	14854320		2203	4300	6503	SO:0001583	missense	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.2375G>T	19.37:g.14854320C>A	ENSP00000319883:p.Trp792Leu		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.427421	0.43122	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.02	3.97	0.46021	.	.	.	.	.	T	0.40297	0.1111	L	0.49455	1.56	0.45354	D	0.998346	B;B;P;B;P;B;B;D	0.65815	0.402;0.254;0.908;0.165;0.835;0.216;0.365;0.995	B;B;P;B;B;B;B;P	0.58520	0.109;0.272;0.468;0.083;0.272;0.115;0.098;0.84	T	0.10222	-1.0639	9	0.24483	T	0.36	.	10.8425	0.46724	0.1887:0.8113:0.0:0.0	.	734;699;792;650;743;792;792;781	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	L	792;781;743;699;650;734	ENSP00000319883:W792L;ENSP00000376694:W781L;ENSP00000263380:W743L;ENSP00000319454:W699L;ENSP00000319838:W650L;ENSP00000376692:W734L	ENSP00000319883:W792L	W	-	2	0	EMR2	14715320	0.346000	0.24844	0.019000	0.16419	0.066000	0.16364	1.184000	0.32053	1.095000	0.41419	0.598000	0.82781	TGG		0.542	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			A	14854320	C	A	14854320	3	1	610	1	0	0	0	0	1	0	0	0	5107	595	21	4	104	4	EMR2	19	14854320	Missense_Mutation	SNP	C	TCGA-DV-5565-01A-01D-1534-10	5650386	14854320	44274663	44	33456											
ZNF302	55900	hgsc.bcm.edu	37	19	35175650	35175650	+	Silent	SNP	G	G	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr19:35175650G>A	ENST00000446502.2	+	6	1048	c.840G>A	c.(838-840)aaG>aaA	p.K280K	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Silent_p.K236K|ZNF302_ENST00000457781.2_Silent_p.K236K|ZNF302_ENST00000505242.1_Silent_p.K236K			Q9NR11	ZN302_HUMAN	zinc finger protein 302	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AATGTGGGAAGACTTTTAGCC	0.463																																																0													92	96	95					19																	35175650		2202	4300	6502	SO:0001819	synonymous_variant	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"Zinc fingers, C2H2-type", "-"	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.840G>A	19.37:g.35175650G>A			Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37																																																																																					0.463	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			A	35175650	G	A	35175650	2	1	610	1	0	0	0	0	0	0	0	1	17837	933	33	2		2	ZNF302	19	35175650	Silent	SNP	G	TCGA-DV-5565-01A-01D-1534-10	20321330	35175650	23953333	45	33457											
SIPA1L3	23094	hgsc.bcm.edu;ucsc.edu	37	19	38609984	38609984	+	Missense_Mutation	SNP	G	G	C			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr19:38609984G>C	ENST00000222345.6	+	9	2839	c.2330G>C	c.(2329-2331)gGc>gCc	p.G777A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	777	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.G777A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTCCTTTCGGCCCCCCCATC	0.532																																																1	Substitution - Missense(1)	kidney(1)											66	73	71					19																	38609984		2203	4300	6503	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2330G>C	19.37:g.38609984G>C	ENSP00000222345:p.Gly777Ala		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736543	0.89482	.	.	ENSG00000105738	ENST00000222345	D	0.94966	-3.57	5.22	5.22	0.72569	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	M	0.91561	3.22	0.80722	D	1	P	0.50617	0.937	P	0.62298	0.9	D	0.98212	1.0473	10	0.72032	D	0.01	-44.3645	17.7273	0.88369	0.0:0.0:1.0:0.0	.	777	O60292	SI1L3_HUMAN	A	777	ENSP00000222345:G777A	ENSP00000222345:G777A	G	+	2	0	SIPA1L3	43301824	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	7.717000	0.84732	2.725000	0.93324	0.655000	0.94253	GGC		0.532	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		C	38609984	G	C	38609984	3	2	610	1	0	0	0	0	1	0	0	0	14337	1203	42	4	2356	4	SIPA1L3	19	38609984	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	3434334	38609984	20518999	46	33458											
KIF3B	9371	hgsc.bcm.edu;ucsc.edu	37	20	30898460	30898460	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr20:30898460G>T	ENST00000375712.3	+	2	1047	c.880G>T	c.(880-882)Gac>Tac	p.D294Y	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	294	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCATATCGGGACTCAAAGCT	0.502																																																0													78	72	74					20																	30898460		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.880G>T	20.37:g.30898460G>T	ENSP00000364864:p.Asp294Tyr		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759877	0.69763	.	.	ENSG00000101350	ENST00000375712	T	0.81330	-1.48	4.52	4.52	0.55395	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.94358	0.8186	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97053	0.9765	10	0.87932	D	0	.	17.4488	0.87586	0.0:0.0:1.0:0.0	.	294;294	B4DYF2;O15066	.;KIF3B_HUMAN	Y	294	ENSP00000364864:D294Y	ENSP00000364864:D294Y	D	+	1	0	KIF3B	30362121	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.657000	0.98554	2.336000	0.79503	0.462000	0.41574	GAC		0.502	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		T	30898460	G	T	30898460	3	4	610	1	0	0	0	0	1	0	0	0	8303	1174	41	4	882	4	KIF3B	20	30898460	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10		30898460	32127060	47	33459											
PLCG1	5335	hgsc.bcm.edu;ucsc.edu	37	20	39802104	39802104	+	Silent	SNP	G	G	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr20:39802104G>A	ENST00000373271.1	+	28	3729	c.3324G>A	c.(3322-3324)gtG>gtA	p.V1108V	PLCG1_ENST00000244007.3_Silent_p.V1108V|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373272.2_Silent_p.V1108V	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1108	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GAGGCATTGTGTGTCCTTTTG	0.552											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													125	109	114					20																	39802104		2203	4300	6503	SO:0001819	synonymous_variant	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3324G>A	20.37:g.39802104G>A		888	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	CCDS13314.1																																																																																				0.552	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		A	39802104	G	A	39802104	2	1	610	1	0	0	0	0	0	0	0	1	12037	1364	48	2		2	PLCG1	20	39802104	Silent	SNP	G	TCGA-DV-5565-01A-01D-1534-10	8903644	39802104	23223416	48	33460											
MYBL2	4605	hgsc.bcm.edu;ucsc.edu	37	20	42340179	42340179	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr20:42340179G>T	ENST00000217026.4	+	11	1784	c.1657G>T	c.(1657-1659)Gct>Tct	p.A553S	MYBL2_ENST00000396863.4_Missense_Mutation_p.A529S	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	553					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCGTTCTGAGGCTGGCATCGA	0.642																																																0													76	62	66					20																	42340179		2203	4300	6503	SO:0001583	missense	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1657G>T	20.37:g.42340179G>T	ENSP00000217026:p.Ala553Ser		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388177	0.25118	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.28454	1.61;1.61	3.63	3.63	0.41609	C-myb, C-terminal (1);	0.246632	0.41605	D	0.000843	T	0.09949	0.0244	N	0.03608	-0.345	0.44085	D	0.996842	B;B	0.32526	0.191;0.374	B;B	0.27796	0.069;0.083	T	0.13926	-1.0491	10	0.18710	T	0.47	-23.598	4.6268	0.12482	0.1108:0.0:0.6693:0.22	.	529;553	F8W6N6;P10244	.;MYBB_HUMAN	S	529;553	ENSP00000380072:A529S;ENSP00000217026:A553S	ENSP00000217026:A553S	A	+	1	0	MYBL2	41773593	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	3.389000	0.52516	2.323000	0.78572	0.655000	0.94253	GCT		0.642	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		T	42340179	G	T	42340179	3	4	610	1	0	0	0	0	1	0	0	0	10012	1203	42	4	1699	4	MYBL2	20	42340179	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	2538075	42340179	20685341	49	33461											
MYT1	4661	hgsc.bcm.edu;ucsc.edu	37	20	62839567	62839567	+	Missense_Mutation	SNP	T	T	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr20:62839567T>A	ENST00000328439.1	+	7	1382	c.1018T>A	c.(1018-1020)Tac>Aac	p.Y340N	MYT1_ENST00000536311.1_Missense_Mutation_p.Y340N|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAAGCCTGAGTACTCTGTTAT	0.572																																					GBM(59;481 1041 20555 21139 33705)											0													111	115	113					20																	62839567		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1018T>A	20.37:g.62839567T>A	ENSP00000327465:p.Tyr340Asn		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	t	8.853	0.945088	0.18356	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.21361	2.01;2.01	4.6	4.6	0.57074	.	0.293386	0.28754	N	0.014259	T	0.19127	0.0459	M	0.62723	1.935	0.80722	D	1	P	0.40000	0.698	B	0.28709	0.093	T	0.05699	-1.0869	10	0.28530	T	0.3	-16.7149	14.0215	0.64558	0.0:0.0:0.0:1.0	.	340	Q01538	MYT1_HUMAN	N	340	ENSP00000327465:Y340N;ENSP00000442412:Y340N	ENSP00000327465:Y340N	Y	+	1	0	MYT1	62310011	.	.	0.917000	0.36280	0.211000	0.24417	.	.	1.724000	0.51502	0.451000	0.29950	TAC		0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		A	62839567	T	A	62839567	3	1	610	1	0	0	0	0	1	0	0	0	10108	1638	57	5	1036	5	MYT1	20	62839567	Missense_Mutation	SNP	T	TCGA-DV-5565-01A-01D-1534-10	20499388	62839567	185953	50	33462											
UBASH3A	53347	hgsc.bcm.edu;ucsc.edu	37	21	43867186	43867186	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr21:43867186delG	ENST00000319294.6	+	15	1899	c.1868delG	c.(1867-1869)tgcfs	p.C623fs	UBASH3A_ENST00000398367.1_Frame_Shift_Del_p.A513fs|UBASH3A_ENST00000291535.6_Frame_Shift_Del_p.C585fs	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	623	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTGGGCATGTGCTTCTGTGAA	0.463																																																0													118	123	121					21																	43867186		2203	4300	6503	SO:0001589	frameshift_variant	53347			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1868delG	21.37:g.43867186delG	ENSP00000317327:p.Cys623fs		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Frame_Shift_Del	DEL	ENST00000319294.6	37	CCDS13687.1																																																																																				0.463	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		-	43867186	G	-	43867186	7	5	610	1	0	1	0	1	0	0	0	0	16844	1319	46	0	1926	0	UBASH3A	21	43867186	Frame_Shift_Del	DEL	G	TCGA-DV-5565-01A-01D-1534-10		43867186	4262709	51	33463											
CLTCL1	8218	hgsc.bcm.edu;ucsc.edu	37	22	19175147	19175147	+	Missense_Mutation	SNP	T	T	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr22:19175147T>A	ENST00000263200.10	-	29	4600	c.4528A>T	c.(4528-4530)Att>Ttt	p.I1510F	CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000353891.5_Intron|CLTCL1_ENST00000427926.1_Missense_Mutation_p.I1510F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1510	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGGCCGCAATGCACCTGAAC	0.537			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													98	101	100					22																	19175147		2077	4215	6292	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4528A>T	22.37:g.19175147T>A	ENSP00000445677:p.Ile1510Phe		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086397	0.36855	.	.	ENSG00000070371	ENST00000263200;ENST00000427926	T;T	0.31510	1.49;1.49	3.97	1.79	0.24919	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.214218	0.39146	N	0.001457	T	0.55721	0.1938	M	0.91038	3.17	0.58432	D	0.999999	D	0.61080	0.989	D	0.70227	0.968	T	0.53521	-0.8427	10	0.72032	D	0.01	-3.0596	5.6555	0.17640	0.1504:0.0847:0.0:0.7649	.	1510	P53675	CLH2_HUMAN	F	1510	ENSP00000445677:I1510F;ENSP00000441158:I1510F	ENSP00000445677:I1510F	I	-	1	0	CLTCL1	17555147	1.000000	0.71417	0.656000	0.29637	0.005000	0.04900	3.484000	0.53201	0.124000	0.18369	-1.158000	0.01797	ATT		0.537	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		A	19175147	T	A	19175147	3	1	610	1	0	0	0	0	1	0	0	0	3569	1464	51	5	410	5	CLTCL1	22	19175147	Missense_Mutation	SNP	T	TCGA-DV-5565-01A-01D-1534-10		19175147	32129419	52	33464											
FOXRED2	80020	hgsc.bcm.edu;ucsc.edu	37	22	36894108	36894108	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5565-01A-01D-1534-10	TCGA-DV-5565-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ee24d408-6043-4ca0-8bde-f29e798cc479	aa2bc3bd-65b8-4cc1-b6e5-ece86aa84888	g.chr22:36894108G>A	ENST00000397224.4	-	6	1405	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	FOXRED2_ENST00000397223.4_Missense_Mutation_p.R438W|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R438W|FOXRED2_ENST00000366463.3_5'UTR	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	438					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCACGCGCCGCACGATGGAG	0.632																																																0													82	74	77					22																	36894108		2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1312C>T	22.37:g.36894108G>A	ENSP00000380401:p.Arg438Trp		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479755	0.84747	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.15603	2.41;2.41;2.41	5.07	5.07	0.68467	.	0.111307	0.64402	D	0.000019	T	0.35008	0.0917	M	0.72118	2.19	0.41670	D	0.989231	D	0.71674	0.998	P	0.58970	0.849	T	0.12967	-1.0527	10	0.87932	D	0	-34.1805	11.8244	0.52259	0.0:0.0:0.6992:0.3008	.	438	Q8IWF2	FXRD2_HUMAN	W	438	ENSP00000380401:R438W;ENSP00000216187:R438W;ENSP00000380400:R438W	ENSP00000216187:R438W	R	-	1	2	FOXRED2	35224054	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	6.208000	0.72165	2.358000	0.79984	0.650000	0.86243	CGG		0.632	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		A	36894108	G	A	36894108	3	1	610	1	0	0	0	0	1	0	0	0	6036	1086	38	1	758	1	FOXRED2	22	36894108	Missense_Mutation	SNP	G	TCGA-DV-5565-01A-01D-1534-10	17718961	36894108	14410458	53	33465											
RBM15	64783	hgsc.bcm.edu;ucsc.edu	37	1	110888165	110888165	+	Silent	SNP	T	T	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr1:110888165T>C	ENST00000369784.3	+	2	3768	c.2868T>C	c.(2866-2868)ttT>ttC	p.F956F	RBM15_ENST00000487146.2_Intron	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	956	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCACAGGGTTTGGTTTTCAGA	0.393			T	MKL1	acute megakaryocytic leukemia																																		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													157	174	168					1																	110888165		2203	4300	6503	SO:0001819	synonymous_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2868T>C	1.37:g.110888165T>C			A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	CCDS822.1																																																																																				0.393	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		C	110888165	T	C	110888165	2	2	611	1	0	0	0	0	0	0	0	1	13122	1809	63	3		3	RBM15	1	110888165	Silent	SNP	T	TCGA-DV-5566-01A-01D-1534-10		110888165	138362456	1	33466											
EMX1	2016	hgsc.bcm.edu;ucsc.edu	37	2	73161028	73161028	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr2:73161028G>A	ENST00000258106.6	+	3	1196	c.818G>A	c.(817-819)cGc>cAc	p.R273H	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	240					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						AACCGGTGGCGCATTGCCACG	0.577																																																0													70	81	78					2																	73161028		2141	4249	6390	SO:0001583	missense	2016			X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"Homeoboxes / ANTP class : NKL subclass"	3340	protein-coding gene	gene with protein product		600034	"empty spiracles homolog 1 (Drosophila)"			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.818G>A	2.37:g.73161028G>A	ENSP00000258106:p.Arg273His		Q0D2P0|Q53T30|Q86XB0	Missense_Mutation	SNP	ENST00000258106.6	37	CCDS1921.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982425	0.93044	.	.	ENSG00000135638	ENST00000258106	D	0.92299	-3.01	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.95516	0.8543	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	D	0.95827	0.8855	10	0.72032	D	0.01	-23.1708	16.7711	0.85537	0.0:0.0:1.0:0.0	.	240	Q04741	EMX1_HUMAN	H	273	ENSP00000258106:R273H	ENSP00000258106:R273H	R	+	2	0	EMX1	73014536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.635000	0.89317	0.484000	0.47621	CGC		0.577	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			A	73161028	G	A	73161028	3	1	611	1	0	0	0	0	1	0	0	0	5109	1087	38	1	828	1	EMX1	2	73161028	Missense_Mutation	SNP	G	TCGA-DV-5566-01A-01D-1534-10		73161028	170038345	2	33467											
MYL1	4632	hgsc.bcm.edu;ucsc.edu	37	2	211159133	211159133	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr2:211159133G>A	ENST00000352451.3	-	4	461	c.314C>T	c.(313-315)gCc>gTc	p.A105V	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.A61V	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	105					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.A105V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		AATTTTCTTGGCATTCAGCTC	0.378																																																1	Substitution - Missense(1)	skin(1)											120	112	115					2																	211159133		2203	4300	6503	SO:0001583	missense	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"Myosins / Light chain", "EF-hand domain containing"	7582	protein-coding gene	gene with protein product		160780	"myosin, light polypeptide 1, alkali; skeletal, fast"			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.314C>T	2.37:g.211159133G>A	ENSP00000307280:p.Ala105Val		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374849	0.24857	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.79845	-1.31;-1.31	5.77	4.9	0.64082	EF-hand-like domain (1);	0.199640	0.56097	N	0.000029	T	0.70037	0.3178	L	0.33093	0.98	0.41689	D	0.98933	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.64219	-0.6459	10	0.10636	T	0.68	.	14.8789	0.70516	0.0687:0.0:0.9313:0.0	.	105;61	P05976;P05976-2	MYL1_HUMAN;.	V	61;105	ENSP00000343321:A61V;ENSP00000307280:A105V	ENSP00000343321:A61V	A	-	2	0	MYL1	210867378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.451000	0.44952	1.465000	0.48006	0.650000	0.86243	GCC		0.378	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		A	211159133	G	A	211159133	3	1	611	1	0	0	0	0	1	0	0	0	10045	1203	42	2	282	2	MYL1	2	211159133	Missense_Mutation	SNP	G	TCGA-DV-5566-01A-01D-1534-10	137998105	211159133	32040240	3	33468											
WDR69	164781	hgsc.bcm.edu;ucsc.edu	37	2	228758531	228758531	+	Missense_Mutation	SNP	A	A	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr2:228758531A>C	ENST00000309931.2	+	5	421	c.338A>C	c.(337-339)gAt>gCt	p.D113A	DAW1_ENST00000545118.1_Missense_Mutation_p.D98A|DAW1_ENST00000373666.2_Missense_Mutation_p.D113A|DAW1_ENST00000472604.1_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	113						cilium (GO:0005929)											GGAAGCTATGATCGGACGTGC	0.453																																																0													107	96	100					2																	228758531		2203	4300	6503	SO:0001583	missense	164781				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.338A>C	2.37:g.228758531A>C	ENSP00000311899:p.Asp113Ala		Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834566	0.71373	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	D;D;D	0.89343	-2.5;-2.5;-2.5	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97403	0.9997	10	0.72032	D	0.01	.	14.8638	0.70399	1.0:0.0:0.0:0.0	.	113	Q8N136	WDR69_HUMAN	A	113;113;98	ENSP00000362770:D113A;ENSP00000311899:D113A;ENSP00000437887:D98A	ENSP00000311899:D113A	D	+	2	0	WDR69	228466775	1.000000	0.71417	0.603000	0.28903	0.435000	0.31806	8.194000	0.89721	2.174000	0.68829	0.528000	0.53228	GAT		0.453	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		C	228758531	A	C	228758531	3	2	611	1	0	0	0	0	1	0	0	0	17324	333	12	5	356	5	WDR69	2	228758531	Missense_Mutation	SNP	A	TCGA-DV-5566-01A-01D-1534-10	17599398	228758531	14440842	4	33469											
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52692298	52692298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr3:52692298G>A	ENST00000296302.7	-	5	563	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q188*			Q86U86	PB1_HUMAN	polybromo 1	188					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAAGAAGCTGCTCCAGGATC	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													78	74	75					3																	52692298		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.562C>T	3.37:g.52692298G>A	ENSP00000296302:p.Gln188*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	33	5.235245	0.95207	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-9.3319	18.8333	0.92150	0.0:0.0:1.0:0.0	.	.	.	.	X	188;188;188;188;188;188;188;188;188;132;188	.	ENSP00000296302:Q188X	Q	-	1	0	PBRM1	52667338	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.346000	0.79347	2.447000	0.82792	0.644000	0.83932	CAG		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		A	52692298	G	A	52692298	4	1	611	1	0	0	0	0	0	1	0	0	11493	1328	46	2	4442	2	PBRM1	3	52692298	Nonsense_Mutation	SNP	G	TCGA-DV-5566-01A-01D-1534-10		52692298	145330132	5	33470											
IGSF11	152404	hgsc.bcm.edu;ucsc.edu	37	3	118621765	118621765	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr3:118621765G>T	ENST00000393775.2	-	7	1203	c.898C>A	c.(898-900)Cac>Aac	p.H300N	IGSF11_ENST00000425327.2_Missense_Mutation_p.H299N|IGSF11_ENST00000489689.1_Missense_Mutation_p.H276N|IGSF11_ENST00000354673.2_Missense_Mutation_p.H299N|IGSF11_ENST00000491903.1_Missense_Mutation_p.H272N|IGSF11_ENST00000441144.2_Missense_Mutation_p.H275N	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	300					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATCTCAGTGTGAAATGCTTTG	0.408																																																0													107	112	110					3																	118621765		2198	4300	6498	SO:0001583	missense	152404			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.898C>A	3.37:g.118621765G>T	ENSP00000377370:p.His300Asn		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922727	0.73213	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.83992	-0.9;-1.12;-1.79;-0.9;-1.73;-1.6	5.37	5.37	0.77165	.	0.045651	0.85682	D	0.000000	T	0.73536	0.3599	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P	0.41848	0.651;0.763;0.763;0.651;0.651	B;B;B;B;B	0.42282	0.212;0.382;0.382;0.212;0.212	T	0.71230	-0.4654	10	0.18710	T	0.47	.	18.2816	0.90099	0.0:0.0:1.0:0.0	.	272;275;299;276;300	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	N	299;300;276;299;275;272	ENSP00000406092:H299N;ENSP00000377370:H300N;ENSP00000420486:H276N;ENSP00000346700:H299N;ENSP00000401240:H275N;ENSP00000417413:H272N	ENSP00000346700:H299N	H	-	1	0	IGSF11	120104455	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.150000	0.94667	2.804000	0.96469	0.655000	0.94253	CAC		0.408	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			T	118621765	G	T	118621765	3	4	611	1	0	0	0	0	1	0	0	0	7600	1290	45	4	401	4	IGSF11	3	118621765	Missense_Mutation	SNP	G	TCGA-DV-5566-01A-01D-1534-10	65929467	118621765	79400665	6	33471											
CLK4	57396	hgsc.bcm.edu;ucsc.edu	37	5	178045711	178045711	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr5:178045711C>T	ENST00000316308.4	-	3	398	c.230G>A	c.(229-231)aGg>aAg	p.R77K	CLK4_ENST00000522749.1_5'UTR|RN7SKP70_ENST00000516655.1_RNA	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	77					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		GTAGTCATTCCTGTATTCGTC	0.408																																																0													160	148	152					5																	178045711		2203	4300	6503	SO:0001583	missense	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.230G>A	5.37:g.178045711C>T	ENSP00000316948:p.Arg77Lys			Missense_Mutation	SNP	ENST00000316308.4	37	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370211	0.82573	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.08720	3.06	5.87	5.87	0.94306	.	0.162448	0.56097	D	0.000030	T	0.34919	0.0914	M	0.86953	2.85	0.80722	D	1	B;D;B;D;D	0.58268	0.018;0.982;0.062;0.982;0.982	B;D;B;D;D	0.67548	0.031;0.952;0.031;0.952;0.952	T	0.09079	-1.0691	10	0.72032	D	0.01	.	17.6873	0.88259	0.0:1.0:0.0:0.0	.	77;77;77;77;77	B7Z990;B7ZL31;Q4G0Z5;B9EG64;Q9HAZ1	.;.;.;.;CLK4_HUMAN	K	77	ENSP00000316948:R77K	ENSP00000316948:R77K	R	-	2	0	CLK4	177978317	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.056000	0.57448	2.779000	0.95612	0.591000	0.81541	AGG		0.408	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			T	178045711	C	T	178045711	3	4	611	1	0	0	0	0	1	0	0	0	3541	681	24	2	1259	2	CLK4	5	178045711	Missense_Mutation	SNP	C	TCGA-DV-5566-01A-01D-1534-10		178045711	2869549	7	33472											
TREML2	79865	hgsc.bcm.edu;ucsc.edu	37	6	41162231	41162231	+	Silent	SNP	C	C	T	rs372822570	byFrequency	TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:41162231C>T	ENST00000483722.1	-	3	902	c.717G>A	c.(715-717)tcG>tcA	p.S239S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	239					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGTGGTGGGCGATCTGGTGC	0.617													C|||	6	0.00119808	0.0	0.0	5008	,	,		14953	0.0		0.0	False		,,,				2504	0.0061															0								C		0,4406		0,0,2203	82	84	83		717	-4.5	0	6		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TREML2	NM_024807.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		239/322	41162231	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.717G>A	6.37:g.41162231C>T			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	CCDS4853.2																																																																																				0.617	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		T	41162231	C	T	41162231	2	4	611	1	0	0	0	0	0	0	0	1	16478	755	27	1		1	TREML2	6	41162231	Silent	SNP	C	TCGA-DV-5566-01A-01D-1534-10		41162231	129952836	8	33473											
ELOVL4	6785	hgsc.bcm.edu;ucsc.edu	37	6	80636042	80636043	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:80636042_80636043insTC	ENST00000369816.4	-	2	456_457	c.156_157insGA	c.(154-159)ataagcfs	p.S53fs		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	53					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.S53G(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TAAAGAGTGCTTATACTTAGTG	0.391																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	6785			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"cancer/testis antigen 118"	605512	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.156_157insGA	6.37:g.80636042_80636043insTC	ENSP00000358831:p.Ser53fs		B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Frame_Shift_Ins	INS	ENST00000369816.4	37	CCDS4992.1																																																																																				0.391	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			TC	80636043	-	TC	80636042	7	5	611	1	0	1	1	0	0	0	0	0	5078	1609	56	0	807	0	ELOVL4	6	80636042	Frame_Shift_Ins	INS	-	TCGA-DV-5566-01A-01D-1534-10	39473811	80636042	90479025	9	33474											
ANKRD6	22881	hgsc.bcm.edu;ucsc.edu	37	6	90340623	90340627	+	Frame_Shift_Del	DEL	ATCAG	ATCAG	-			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	ATCAG	ATCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:90340623_90340627delATCAG	ENST00000522441.1	+	16	2725_2729	c.2084_2088delATCAG	c.(2083-2088)aatcagfs	p.NQ695fs	ANKRD6_ENST00000447838.2_Frame_Shift_Del_p.NQ690fs|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000339746.4_Frame_Shift_Del_p.NQ695fs|ANKRD6_ENST00000520793.1_Frame_Shift_Del_p.NQ631fs|ANKRD6_ENST00000369408.5_Frame_Shift_Del_p.NQ660fs	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	695					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGCCAAGCCAATCAGAAAGCCCAGC	0.429																																																0																																										SO:0001589	frameshift_variant	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.2084_2088delATCAG	6.37:g.90340623_90340627delATCAG	ENSP00000430985:p.Asn695fs		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Frame_Shift_Del	DEL	ENST00000522441.1	37	CCDS56441.1																																																																																				0.429	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			-	90340627	ATCAG	-	90340623	7	5	611	1	0	1	0	1	0	0	0	0	685	101	4	0	2127	0	ANKRD6	6	90340623	Frame_Shift_Del	DEL	ATCAG	TCGA-DV-5566-01A-01D-1534-10	9704581	90340623	80774444	10	33475											
MAN1A1	4121	hgsc.bcm.edu;ucsc.edu	37	6	119623209	119623209	+	Missense_Mutation	SNP	T	T	G			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:119623209T>G	ENST00000368468.3	-	4	1201	c.760A>C	c.(760-762)Aaa>Caa	p.K254Q	MAN1A1_ENST00000368466.2_Missense_Mutation_p.K277Q	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	254					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AATTCATGTTTCATTTCCATA	0.279																																					Ovarian(136;8 1825 12608 33541 47587)											0													49	52	51					6																	119623209		2201	4281	6482	SO:0001583	missense	4121			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.760A>C	6.37:g.119623209T>G	ENSP00000357453:p.Lys254Gln		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.546318	0.27652	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.73152	-0.72;-0.72	6.13	3.75	0.43078	.	0.576683	0.20926	N	0.083192	T	0.51109	0.1655	M	0.72118	2.19	0.36325	D	0.858472	B;B	0.21753	0.06;0.035	B;B	0.25759	0.063;0.01	T	0.43893	-0.9363	9	.	.	.	-24.3792	8.9418	0.35733	0.0:0.1563:0.0:0.8437	.	277;254	Q6P052;P33908	.;MA1A1_HUMAN	Q	254;277	ENSP00000357453:K254Q;ENSP00000357451:K277Q	.	K	-	1	0	MAN1A1	119664908	1.000000	0.71417	0.983000	0.44433	0.612000	0.37316	3.392000	0.52537	0.562000	0.29204	0.524000	0.50904	AAA		0.279	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		G	119623209	T	G	119623209	3	3	611	1	0	0	0	0	1	0	0	0	9212	1792	62	5	1241	5	MAN1A1	6	119623209	Missense_Mutation	SNP	T	TCGA-DV-5566-01A-01D-1534-10	29282586	119623209	51491858	11	33476											
KIAA1244	57221	hgsc.bcm.edu	37	6	138584327	138584327	+	Silent	SNP	C	C	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:138584327C>T	ENST00000251691.4	+	12	1873	c.1707C>T	c.(1705-1707)gtC>gtT	p.V569V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCCACACGGTCCCTTACCCTG	0.507																																																0													99	89	92					6																	138584327		2203	4300	6503	SO:0001819	synonymous_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1707C>T	6.37:g.138584327C>T				Silent	SNP	ENST00000251691.4	37	CCDS5189.2																																																																																				0.507	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		T	138584327	C	T	138584327	2	4	611	1	0	0	0	0	0	0	0	1	8219	842	30	2		2	KIAA1244	6	138584327	Silent	SNP	C	TCGA-DV-5566-01A-01D-1534-10	18961118	138584327	32530740	12	33477											
SYNE1	23345	hgsc.bcm.edu;ucsc.edu	37	6	152470618	152470618	+	Silent	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:152470618G>A	ENST00000367255.5	-	136	25237	c.24636C>T	c.(24634-24636)cgC>cgT	p.R8212R	SYNE1_ENST00000354674.4_Silent_p.R367R|SYNE1_ENST00000423061.1_Silent_p.R8141R|SYNE1_ENST00000539504.1_Silent_p.R367R|SYNE1_ENST00000448038.1_Silent_p.R8141R|SYNE1_ENST00000356820.4_Silent_p.R2736R|SYNE1_ENST00000265368.4_Silent_p.R8212R|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.R7824R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8212					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATACAGGCAGGCGGATCAGTT	0.463										HNSCC(10;0.0054)																																						0													86	82	83					6																	152470618		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24636C>T	6.37:g.152470618G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		A	152470618	G	A	152470618	2	1	611	1	0	0	0	0	0	0	0	1	15450	1190	42	2		2	SYNE1	6	152470618	Silent	SNP	G	TCGA-DV-5566-01A-01D-1534-10	13886291	152470618	18644449	13	33478											
PLG	5340	hgsc.bcm.edu;ucsc.edu	37	6	161139489	161139489	+	Splice_Site	SNP	G	G	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:161139489G>T	ENST00000308192.9	+	8	1013		c.e8+1			NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCCTGCAAGTAAGTCCCCT	0.502																																																0													102	109	106					6																	161139489		2203	4300	6503	SO:0001630	splice_region_variant	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.950+1G>T	6.37:g.161139489G>T			Q15146|Q5TEH4|Q6PA00	Splice_Site	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460008	0.84317	.	.	ENSG00000122194	ENST00000308192	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1034	0.89513	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLG	161059479	1.000000	0.71417	0.921000	0.36526	0.943000	0.58893	8.456000	0.90359	2.644000	0.89710	0.655000	0.94253	.		0.502	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	Intron	T	161139489	G	T	161139489	5	4	611	1	0	0	0	0	0	0	1	0	12088	1043	36	4	985	4	PLG	6	161139489	Splice_Site	SNP	G	TCGA-DV-5566-01A-01D-1534-10	8668871	161139489	9975578	14	33479											
CREB3L2	64764	hgsc.bcm.edu;ucsc.edu	37	7	137593138	137593138	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr7:137593138G>A	ENST00000330387.6	-	5	979	c.628C>T	c.(628-630)Cac>Tac	p.H210Y	CREB3L2_ENST00000456390.1_Missense_Mutation_p.H210Y	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	210					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCACTGCCGTGACTGCTCGGA	0.637			T	FUS	fibromyxoid sarcoma																																		Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													26	28	27					7																	137593138		2023	3994	6017	SO:0001583	missense	64764			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"basic leucine zipper proteins"	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.628C>T	7.37:g.137593138G>A	ENSP00000329140:p.His210Tyr		Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955062	0.53293	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	T;T	0.66638	0.19;-0.22	4.99	4.1	0.47936	.	0.302750	0.36519	N	0.002546	T	0.67163	0.2864	M	0.76838	2.35	0.80722	D	1	P;B	0.40107	0.703;0.128	B;B	0.43478	0.421;0.057	T	0.67780	-0.5582	10	0.02654	T	1	-9.1245	15.018	0.71600	0.0:0.0:0.8565:0.1435	.	210;210	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	Y	210	ENSP00000329140:H210Y;ENSP00000403550:H210Y	ENSP00000329140:H210Y	H	-	1	0	CREB3L2	137243678	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.169000	0.71913	1.203000	0.43233	0.563000	0.77884	CAC		0.637	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		A	137593138	G	A	137593138	3	1	611	1	0	0	0	0	1	0	0	0	3859	1290	45	2	966	2	CREB3L2	7	137593138	Missense_Mutation	SNP	G	TCGA-DV-5566-01A-01D-1534-10		137593138	21545525	15	33480											
TM2D2	83877	hgsc.bcm.edu;ucsc.edu	37	8	38853913	38853913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr8:38853913G>A	ENST00000456397.2	-	1	139	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	ADAM9_ENST00000481513.1_5'Flank|TM2D2_ENST00000456845.2_Intron|ADAM9_ENST00000487273.2_5'Flank|TM2D2_ENST00000412303.1_Intron|ADAM9_ENST00000466936.1_5'Flank|TM2D2_ENST00000397070.2_5'UTR|TM2D2_ENST00000522434.1_Intron	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	16						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AAAGCCGCCTGGCCGCACAGA	0.612																																																0													84	87	86					8																	38853913		2203	4300	6503	SO:0001587	stop_gained	83877			AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.46C>T	8.37:g.38853913G>A	ENSP00000416050:p.Gln16*		B2RBK4|D3DSX8|Q8N0X9	Nonsense_Mutation	SNP	ENST00000456397.2	37	CCDS6111.1	.	.	.	.	.	.	.	.	.	.	G	38	7.025518	0.98010	.	.	ENSG00000169490	ENST00000456397	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-14.1054	19.5973	0.95546	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000416050:Q16X	Q	-	1	0	TM2D2	38973070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.738000	0.93877	0.655000	0.94253	CAG		0.612	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377280.1	NM_031940		A	38853913	G	A	38853913	4	1	611	1	0	0	0	0	0	1	0	0	15969	1357	47	2	712	2	TM2D2	8	38853913	Nonsense_Mutation	SNP	G	TCGA-DV-5566-01A-01D-1534-10		38853913	107510109	16	33481											
C8orf47	203111	hgsc.bcm.edu;ucsc.edu	37	8	99101670	99101670	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr8:99101670C>T	ENST00000318528.3	+	2	784	c.425C>T	c.(424-426)tCt>tTt	p.S142F	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		142								p.S142Y(1)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAGGCCGAGTCTCTAAAAGGA	0.557																																																1	Substitution - Missense(1)	large_intestine(1)											67	69	68					8																	99101670		2203	4300	6503	SO:0001583	missense	203111																														ENST00000318528.3:c.425C>T	8.37:g.99101670C>T	ENSP00000315614:p.Ser142Phe		G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534261	0.27475	.	.	ENSG00000177459	ENST00000318528	T	0.48201	0.82	5.08	4.2	0.49525	.	1.276180	0.05296	N	0.522153	T	0.37625	0.1010	N	0.14661	0.345	0.24977	N	0.991627	B	0.22851	0.076	B	0.26770	0.073	T	0.36163	-0.9759	10	0.72032	D	0.01	1.1802	11.1412	0.48404	0.1836:0.8164:0.0:0.0	.	142	Q6P6B1	CH047_HUMAN	F	142	ENSP00000315614:S142F	ENSP00000315614:S142F	S	+	2	0	C8orf47	99170846	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	0.192000	0.17096	1.488000	0.48433	0.655000	0.94253	TCT		0.557	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			T	99101670	C	T	99101670	3	4	611	1	0	0	0	0	1	0	0	0	2434	913	32	2	431	2	C8orf47	8	99101670	Missense_Mutation	SNP	C	TCGA-DV-5566-01A-01D-1534-10	60247757	99101670	47262352	17	33482											
VPS13A	23230	hgsc.bcm.edu;ucsc.edu	37	9	79897064	79897064	+	Missense_Mutation	SNP	T	T	G			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr9:79897064T>G	ENST00000360280.3	+	29	3252	c.2992T>G	c.(2992-2994)Tta>Gta	p.L998V	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.L998V|VPS13A_ENST00000376636.3_Missense_Mutation_p.L998V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L998V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	998					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGATATTCATTTACACACTGA	0.363																																																0													79	85	83					9																	79897064		2203	4296	6499	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2992T>G	9.37:g.79897064T>G	ENSP00000353422:p.Leu998Val		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635253	0.67130	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000005	T	0.40145	0.1105	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.994;0.999;0.999	T	0.35968	-0.9767	10	0.13108	T	0.6	.	9.1396	0.36894	0.0:0.0832:0.0:0.9168	.	998;998;998;998	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	998	ENSP00000365821:L998V;ENSP00000365823:L998V;ENSP00000353422:L998V;ENSP00000349985:L998V	ENSP00000349985:L998V	L	+	1	2	VPS13A	79086884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.640000	0.46579	1.914000	0.55421	0.460000	0.39030	TTA		0.363	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		G	79897064	T	G	79897064	3	3	611	1	0	0	0	0	1	0	0	0	17194	1838	64	5	3106	5	VPS13A	9	79897064	Missense_Mutation	SNP	T	TCGA-DV-5566-01A-01D-1534-10		79897064	61316367	18	33483											
COL17A1	1308	hgsc.bcm.edu;ucsc.edu	37	10	105830254	105830254	+	Silent	SNP	G	G	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr10:105830254G>T	ENST00000353479.5	-	9	827	c.537C>A	c.(535-537)tcC>tcA	p.S179S	COL17A1_ENST00000393211.3_Silent_p.S179S|COL17A1_ENST00000369733.3_Silent_p.S179S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	179	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTGTGTTGGAGGAATTCCGGG	0.547																																																0													143	131	135					10																	105830254		2203	4300	6503	SO:0001819	synonymous_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.537C>A	10.37:g.105830254G>T			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	CCDS7554.1																																																																																				0.547	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		T	105830254	G	T	105830254	2	4	611	1	0	0	0	0	0	0	0	1	3676	987	35	4		4	COL17A1	10	105830254	Silent	SNP	G	TCGA-DV-5566-01A-01D-1534-10		105830254	29704493	19	33484											
OR5T2	219464	hgsc.bcm.edu	37	11	55999588	55999588	+	Silent	SNP	T	T	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr11:55999588T>C	ENST00000313264.4	-	1	1149	c.1074A>G	c.(1072-1074)aaA>aaG	p.K358K		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	358						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TAATTTATTTTTTAGTATGAA	0.333																																																0													12	12	12					11																	55999588		2104	4164	6268	SO:0001819	synonymous_variant	219464			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.1074A>G	11.37:g.55999588T>C			B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	CCDS31523.1																																																																																				0.333	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		C	55999588	T	C	55999588	2	2	611	1	0	0	0	0	0	0	0	1	11184	1855	64	3		3	OR5T2	11	55999588	Silent	SNP	T	TCGA-DV-5566-01A-01D-1534-10		55999588	79006928	20	33485											
MMP8	4317	hgsc.bcm.edu;ucsc.edu	37	11	102593358	102593358	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr11:102593358G>A	ENST00000236826.3	-	2	247	c.149C>T	c.(148-150)tCt>tTt	p.S50F		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	50					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.S50F(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	CTTCCTTGTAGACTGATACTG	0.438																																																1	Substitution - Missense(1)	skin(1)											134	130	131					11																	102593358		2203	4299	6502	SO:0001583	missense	4317			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.149C>T	11.37:g.102593358G>A	ENSP00000236826:p.Ser50Phe		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	4.701	0.130400	0.08981	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.37411	1.2	5.92	1.47	0.22746	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	3.305230	0.00748	N	0.001054	T	0.23014	0.0556	N	0.16903	0.455	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.004	T	0.24119	-1.0169	10	0.02654	T	1	.	9.7368	0.40392	0.3474:0.0:0.6526:0.0	.	50;50	A8K9E4;P22894	.;MMP8_HUMAN	F	50;27	ENSP00000236826:S50F	ENSP00000236826:S50F	S	-	2	0	MMP8	102098568	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-2.687000	0.00833	0.399000	0.25367	0.655000	0.94253	TCT		0.438	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		A	102593358	G	A	102593358	3	1	611	1	0	0	0	0	1	0	0	0	9670	942	33	2	1290	2	MMP8	11	102593358	Missense_Mutation	SNP	G	TCGA-DV-5566-01A-01D-1534-10	46593770	102593358	32413158	21	33486											
SLCO1B3	28234	hgsc.bcm.edu;ucsc.edu	37	12	21014049	21014049	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr12:21014049C>T	ENST00000381545.3	+	6	677	c.458C>T	c.(457-459)aCa>aTa	p.T153I	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T153I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.T153I|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T153I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	153					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCAATGGAACATCACCTGAG	0.274																																																0													48	48	48					12																	21014049		2196	4278	6474	SO:0001583	missense	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.458C>T	12.37:g.21014049C>T	ENSP00000370956:p.Thr153Ile		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	C	8.927	0.962529	0.18583	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000540229	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	3.53	1.55	0.23275	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.284167	0.28431	N	0.015377	T	0.34250	0.0891	L	0.59912	1.85	0.09310	N	1	B;B	0.31153	0.31;0.003	B;B	0.33799	0.17;0.05	T	0.17684	-1.0361	10	0.42905	T	0.14	.	5.3519	0.16040	0.2325:0.5412:0.2263:0.0	.	153;153	Q5JAR4;Q9NPD5	.;SO1B3_HUMAN	I	153	ENSP00000442000:T153I;ENSP00000261196:T153I;ENSP00000370956:T153I;ENSP00000451758:T153I;ENSP00000441269:T153I	ENSP00000441269:T153I	T	+	2	0	SLCO1B3;RP11-545J16.1	20905316	0.000000	0.05858	0.019000	0.16419	0.035000	0.12851	0.647000	0.24812	1.810000	0.52873	0.467000	0.42956	ACA		0.274	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		T	21014049	C	T	21014049	3	4	611	1	0	0	0	0	1	0	0	0	14730	478	17	2	472	2	SLCO1B3	12	21014049	Missense_Mutation	SNP	C	TCGA-DV-5566-01A-01D-1534-10		21014049	112837846	22	33487											
GALNT6	11226	hgsc.bcm.edu;ucsc.edu	37	12	51758021	51758021	+	Silent	SNP	G	G	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr12:51758021G>C	ENST00000543196.2	-	5	1138	c.933C>G	c.(931-933)ccC>ccG	p.P311P	GALNT6_ENST00000356317.3_Silent_p.P311P			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	311					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCTCTGGACGGGCTTGGCGA	0.577																																																0													97	90	92					12																	51758021		2203	4300	6503	SO:0001819	synonymous_variant	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.933C>G	12.37:g.51758021G>C			Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	CCDS8813.1																																																																																				0.577	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		C	51758021	G	C	51758021	2	2	611	1	0	0	0	0	0	0	0	1	6219	1103	39	4		4	GALNT6	12	51758021	Silent	SNP	G	TCGA-DV-5566-01A-01D-1534-10	30743972	51758021	82093874	23	33488											
KRT6A	3853	hgsc.bcm.edu	37	12	52881649	52881649	+	Missense_Mutation	SNP	T	T	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr12:52881649T>C	ENST00000330722.6	-	9	1618	c.1550A>G	c.(1549-1551)tAt>tGt	p.Y517C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	517	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCACTGCCATAGGAGTAGCT	0.617																																																0													79	88	85					12																	52881649		2203	4300	6503	SO:0001583	missense	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1550A>G	12.37:g.52881649T>C	ENSP00000369317:p.Tyr517Cys		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	t	11.43	1.635460	0.29068	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.86164	-2.08	4.53	4.53	0.55603	.	0.000000	0.43260	D	0.000583	D	0.90532	0.7033	L	0.59436	1.845	0.36086	D	0.843155	D	0.76494	0.999	D	0.77557	0.99	D	0.91479	0.5203	10	0.37606	T	0.19	.	10.496	0.44777	0.0:0.0:0.0:1.0	.	517	P02538	K2C6A_HUMAN	C	517;473	ENSP00000369317:Y517C	ENSP00000369317:Y517C	Y	-	2	0	KRT6A	51167916	0.321000	0.24625	0.903000	0.35520	0.547000	0.35210	0.380000	0.20602	2.038000	0.60285	0.477000	0.44152	TAT		0.617	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		C	52881649	T	C	52881649	3	2	611	1	0	0	0	0	1	0	0	0	8482	1406	49	3	148	3	KRT6A	12	52881649	Missense_Mutation	SNP	T	TCGA-DV-5566-01A-01D-1534-10	1123628	52881649	80970246	24	33489											
SACS	26278	hgsc.bcm.edu;ucsc.edu	37	13	23906942	23906942	+	Silent	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr13:23906942G>A	ENST00000382292.3	-	9	11346	c.11073C>T	c.(11071-11073)ttC>ttT	p.F3691F	SACS_ENST00000382298.3_Silent_p.F3691F|SACS_ENST00000402364.1_Silent_p.F2941F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3691					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACATTGCTTGAATTTTGGAT	0.418																																																0													118	110	113					13																	23906942		2203	4300	6503	SO:0001819	synonymous_variant	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11073C>T	13.37:g.23906942G>A			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.418	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		A	23906942	G	A	23906942	2	1	611	1	0	0	0	0	0	0	0	1	13810	1281	45	2		2	SACS	13	23906942	Silent	SNP	G	TCGA-DV-5566-01A-01D-1534-10		23906942	91262936	25	33490											
SUGT1	10910	hgsc.bcm.edu;ucsc.edu	37	13	53239772	53239772	+	Splice_Site	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr13:53239772G>A	ENST00000343788.6	+	10	601	c.519G>A	c.(517-519)aaG>aaA	p.K173K	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.8_Splice_Site_p.K141K|SUGT1_ENST00000535397.1_Splice_Site_p.K85K	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	173	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		TTTTTAATAGGTATGACTGGT	0.308																																																0													54	57	56					13																	53239772		2199	4290	6489	SO:0001630	splice_region_variant	10910			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.519-1G>A	13.37:g.53239772G>A			A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Silent	SNP	ENST00000343788.6	37	CCDS45050.1																																																																																				0.308	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2		Silent	A	53239772	G	A	53239772	5	1	611	1	0	0	0	0	0	0	1	0	15374	1275	44	2	557	2	SUGT1	13	53239772	Splice_Site	SNP	G	TCGA-DV-5566-01A-01D-1534-10	29332830	53239772	61930106	26	33491											
PSMA6	5687	hgsc.bcm.edu;ucsc.edu	37	14	35777217	35777217	+	Missense_Mutation	SNP	A	A	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr14:35777217A>C	ENST00000261479.4	+	2	214	c.94A>C	c.(94-96)Att>Ctt	p.I32L	PSMA6_ENST00000553809.1_Missense_Mutation_p.I32L|PSMA6_ENST00000540871.1_Missense_Mutation_p.I13L|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000556506.1_Missense_Mutation_p.I32L	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	32					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 NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|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)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TTTTAAGGCTATTAACCAGGG	0.343																																																0													73	71	71					14																	35777217		2203	4300	6503	SO:0001583	missense	5687			X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"Proteasome (prosome, macropain) subunits"	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.94A>C	14.37:g.35777217A>C	ENSP00000261479:p.Ile32Leu		B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312693	0.81358	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000556506	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.61223	0.2330	M	0.89163	3.01	0.80722	D	1	B	0.11235	0.004	B	0.38655	0.278	T	0.65327	-0.6195	10	0.72032	D	0.01	-3.0853	15.5765	0.76392	1.0:0.0:0.0:0.0	.	32	P60900	PSA6_HUMAN	L	13;32;32;32	ENSP00000444844:I13L;ENSP00000261479:I32L;ENSP00000452603:I32L;ENSP00000450528:I32L	ENSP00000261479:I32L	I	+	1	0	PSMA6	34846968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.216000	0.95154	2.131000	0.65755	0.533000	0.62120	ATT		0.343	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			C	35777217	A	C	35777217	3	2	611	1	0	0	0	0	1	0	0	0	12676	449	16	5	100	5	PSMA6	14	35777217	Missense_Mutation	SNP	A	TCGA-DV-5566-01A-01D-1534-10		35777217	71572323	27	33492											
PSKH1	5681	hgsc.bcm.edu;ucsc.edu	37	16	67942857	67942857	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr16:67942857G>A	ENST00000291041.5	+	2	375	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	69						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CCCGACTGCTGGCCACACGGA	0.592																																																0													65	57	59					16																	67942857		2198	4300	6498	SO:0001583	missense	5681			M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.205G>A	16.37:g.67942857G>A	ENSP00000291041:p.Gly69Ser		Q9NY19	Missense_Mutation	SNP	ENST00000291041.5	37	CCDS10851.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830925	0.32329	.	.	ENSG00000159792	ENST00000291041	T	0.67345	-0.26	5.59	2.12	0.27331	.	0.559474	0.19131	N	0.121924	T	0.53061	0.1773	L	0.34521	1.04	0.32148	N	0.584662	B	0.02656	0.0	B	0.04013	0.001	T	0.56245	-0.8011	10	0.34782	T	0.22	-10.9118	12.0848	0.53691	0.2249:0.0:0.7751:0.0	.	69	P11801	KPSH1_HUMAN	S	69	ENSP00000291041:G69S	ENSP00000291041:G69S	G	+	1	0	PSKH1	66500358	0.009000	0.17119	0.804000	0.32291	0.561000	0.35649	0.790000	0.26900	0.738000	0.32606	0.655000	0.94253	GGC		0.592	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		A	67942857	G	A	67942857	3	1	611	1	0	0	0	0	1	0	0	0	12669	1348	47	2	207	2	PSKH1	16	67942857	Missense_Mutation	SNP	G	TCGA-DV-5566-01A-01D-1534-10		67942857	22411896	28	33493											
TNFRSF13B	23495	hgsc.bcm.edu;ucsc.edu	37	17	16852092	16852092	+	Missense_Mutation	SNP	C	C	G			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr17:16852092C>G	ENST00000261652.2	-	3	417	c.405G>C	c.(403-405)agG>agC	p.R135S	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.R89S|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.R89S|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.R135S	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	135					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						ATCCTTGGTACCTTCCCGAGT	0.542									IgA Deficiency, Selective																																							0													203	173	183					17																	16852092		2203	4300	6503	SO:0001583	missense	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.405G>C	17.37:g.16852092C>G	ENSP00000261652:p.Arg135Ser		B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	C	3.990	-0.004584	0.07773	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.93906	-3.31;-3.21	4.37	2.19	0.27852	.	0.237338	0.27504	N	0.019062	D	0.90177	0.6930	M	0.61703	1.905	0.34627	D	0.719165	B;B;B	0.30851	0.02;0.297;0.197	B;B;B	0.28784	0.01;0.094;0.043	D	0.88489	0.3074	10	0.32370	T	0.25	-12.7706	11.6922	0.51523	0.0:0.7332:0.2668:0.0	.	135;89;135	B7Z6V8;O14836-2;O14836	.;.;TR13B_HUMAN	S	89;135	ENSP00000413453:R89S;ENSP00000261652:R135S	ENSP00000261652:R135S	R	-	3	2	TNFRSF13B	16792817	0.046000	0.20272	0.783000	0.31826	0.099000	0.18886	0.004000	0.13106	0.537000	0.28751	0.603000	0.83216	AGG		0.542	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			G	16852092	C	G	16852092	3	3	611	1	0	0	0	0	1	0	0	0	16292	506	18	4	488	4	TNFRSF13B	17	16852092	Missense_Mutation	SNP	C	TCGA-DV-5566-01A-01D-1534-10		16852092	64343118	29	33494											
IKZF3	22806	hgsc.bcm.edu;ucsc.edu	37	17	37948930	37948930	+	Missense_Mutation	SNP	A	A	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr17:37948930A>T	ENST00000346872.3	-	4	481	c.420T>A	c.(418-420)caT>caA	p.H140Q	IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.H140Q|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.H140Q|IKZF3_ENST00000535189.1_Missense_Mutation_p.H106Q|IKZF3_ENST00000377945.3_Missense_Mutation_p.H140Q|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000467757.1_Missense_Mutation_p.H140Q|IKZF3_ENST00000351680.3_Missense_Mutation_p.H140Q|IKZF3_ENST00000439016.2_Missense_Mutation_p.H140Q|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Missense_Mutation_p.H106Q	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	140					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATTTACCAGTATGGCTTCGCT	0.408																																																0													132	117	122					17																	37948930		2203	4300	6503	SO:0001583	missense	22806			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.420T>A	17.37:g.37948930A>T	ENSP00000344544:p.His140Gln		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.218489|4.218489	0.79464|0.79464	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T|T	0.66995|0.01572	-0.24;1.59;-0.24;-0.24;-0.24;-0.24;-0.24|4.76	5.96|5.96	1.39|1.39	0.22231|0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.07818|0.07818	0.0196|0.0196	M|M	0.89658|0.89658	3.05|3.05	0.23445|0.23445	N|N	0.99767|0.99767	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;0.998;0.999;0.994;1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.97110|.	0.998;0.974;0.997;0.988;0.996;0.988;0.998;0.997;1.0|.	T|T	0.04307|0.04307	-1.0961|-1.0961	10|6	0.87932|.	D|.	0|.	-19.1849|-19.1849	8.4684|8.4684	0.32971|0.32971	0.4671:0.0:0.5329:0.0|0.4671:0.0:0.5329:0.0	.|.	140;106;140;140;140;140;140;106;140|.	Q9UKT9-13;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	Q|K	140;140;140;106;140;140;140;140|94	ENSP00000344544:H140Q;ENSP00000367180:H140Q;ENSP00000438972:H106Q;ENSP00000345622:H140Q;ENSP00000341977:H140Q;ENSP00000344471:H140Q;ENSP00000420463:H140Q|ENSP00000403776:I94K	ENSP00000341977:H140Q|.	H|I	-|-	3|2	2|0	IKZF3|IKZF3	35202456|35202456	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.431000|0.431000	0.21444|0.21444	0.173000|0.173000	0.19788|0.19788	0.533000|0.533000	0.62120|0.62120	CAT|ATA		0.408	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		T	37948930	A	T	37948930	3	4	611	1	0	0	0	0	1	0	0	0	7618	446	16	5	1129	5	IKZF3	17	37948930	Missense_Mutation	SNP	A	TCGA-DV-5566-01A-01D-1534-10	21096838	37948930	43246280	30	33495											
KRT12	3859	hgsc.bcm.edu;ucsc.edu	37	17	39021185	39021185	+	Missense_Mutation	SNP	C	C	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr17:39021185C>A	ENST00000251643.4	-	3	703	c.680G>T	c.(679-681)gGc>gTc	p.G227V	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	227	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	GGCCTCTACGCCCTGGCGCAG	0.572																																																0													76	75	75					17																	39021185		2203	4300	6503	SO:0001583	missense	3859				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.680G>T	17.37:g.39021185C>A	ENSP00000251643:p.Gly227Val		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	9.820	1.185594	0.21870	.	.	ENSG00000187242	ENST00000251643	D	0.88975	-2.45	5.96	-3.22	0.05125	Filament (1);	1.022420	0.07809	N	0.957847	T	0.80053	0.4553	L	0.35288	1.05	0.23913	N	0.996486	B	0.18013	0.025	B	0.18871	0.023	T	0.66093	-0.6009	10	0.59425	D	0.04	.	4.5256	0.11980	0.0822:0.4825:0.2325:0.2028	.	227	Q99456	K1C12_HUMAN	V	227	ENSP00000251643:G227V	ENSP00000251643:G227V	G	-	2	0	KRT12	36274711	0.298000	0.24417	0.000000	0.03702	0.126000	0.20510	1.192000	0.32150	-0.343000	0.08351	-0.165000	0.13383	GGC		0.572	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		A	39021185	C	A	39021185	3	1	611	1	0	0	0	0	1	0	0	0	8451	739	26	4	828	4	KRT12	17	39021185	Missense_Mutation	SNP	C	TCGA-DV-5566-01A-01D-1534-10	1072255	39021185	42174025	31	33496											
CD300LF	146722	hgsc.bcm.edu;ucsc.edu	37	17	72700848	72700848	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr17:72700848T>A	ENST00000326165.6	-	2	262	c.151A>T	c.(151-153)Aag>Tag	p.K51*	RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_Nonsense_Mutation_p.K54*|CD300LF_ENST00000301573.9_Nonsense_Mutation_p.K51*|CD300LF_ENST00000581500.1_Nonsense_Mutation_p.K54*|CD300LF_ENST00000464910.1_Nonsense_Mutation_p.K54*|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_Nonsense_Mutation_p.K54*|CD300LF_ENST00000583937.1_Nonsense_Mutation_p.K51*|CD300LF_ENST00000469092.1_Nonsense_Mutation_p.K54*	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	51	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CACCACCACTTCAAGTAGGTC	0.532																																																0													161	151	154					17																	72700848		2203	4300	6503	SO:0001587	stop_gained	146722			BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"Immunoglobulin superfamily / V-set domain containing"	29883	protein-coding gene	gene with protein product		609807	"CD300 antigen like family member F"			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.151A>T	17.37:g.72700848T>A	ENSP00000327075:p.Lys51*		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Nonsense_Mutation	SNP	ENST00000326165.6	37	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.305232	0.81247	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	.	.	.	5.49	5.49	0.81192	.	0.108239	0.40554	N	0.001061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3964	0.60856	0.0:0.0:0.0:1.0	.	.	.	.	X	51;54;54;51	.	ENSP00000301573:K51X	K	-	1	0	CD300LF	70212443	0.998000	0.40836	0.680000	0.29994	0.566000	0.35808	4.265000	0.58865	2.208000	0.71279	0.533000	0.62120	AAG		0.532	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		A	72700848	T	A	72700848	4	1	611	1	0	0	0	0	0	1	0	0	3003	1792	62	5	745	5	CD300LF	17	72700848	Nonsense_Mutation	SNP	T	TCGA-DV-5566-01A-01D-1534-10	33679663	72700848	8494362	32	33497											
QTRT1	81890	hgsc.bcm.edu	37	19	10818183	10818183	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr19:10818183C>T	ENST00000250237.5	+	5	548	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	180					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CAGGTCAATCCGCTGGCTGGA	0.642																																																0													60	56	57					19																	10818183		2203	4300	6503	SO:0001583	missense	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.538C>T	19.37:g.10818183C>T	ENSP00000250237:p.Arg180Cys		B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	CCDS12248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.589743|3.589743	0.66105|0.66105	.|.	.|.	ENSG00000213339|ENSG00000213339	ENST00000421333|ENST00000250237	.|.	.|.	.|.	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	.|0.000000	.|0.64402	.|U	.|0.000003	D|D	0.88269|0.88269	0.6391|0.6391	H|H	0.98525|0.98525	4.255|4.255	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	D|D	0.92418|0.92418	0.5943|0.5943	6|9	0.72032|0.87932	D|D	0.01|0	-4.565|-4.565	14.2277|14.2277	0.65871|0.65871	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|180	.|Q9BXR0	.|TGT_HUMAN	L|C	191|180	.|.	ENSP00000389126:P191L|ENSP00000250237:R180C	P|R	+|+	2|1	0|0	QTRT1|QTRT1	10679183|10679183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	7.036000|7.036000	0.76524|0.76524	2.346000|2.346000	0.79739|0.79739	0.549000|0.549000	0.68633|0.68633	CCG|CGC		0.642	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		T	10818183	C	T	10818183	3	4	611	1	0	0	0	0	1	0	0	0	12891	652	23	1	556	1	QTRT1	19	10818183	Missense_Mutation	SNP	C	TCGA-DV-5566-01A-01D-1534-10		10818183	48310800	33	33498											
ZNF540	163255	hgsc.bcm.edu;ucsc.edu	37	19	38103228	38103228	+	Silent	SNP	T	T	C	rs544295776		TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr19:38103228T>C	ENST00000592533.1	+	5	1379	c.1047T>C	c.(1045-1047)caT>caC	p.H349H	ZNF540_ENST00000316433.4_Silent_p.H349H|ZNF540_ENST00000589117.1_Silent_p.H317H|ZNF540_ENST00000343599.5_Silent_p.H349H	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	349					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAAATTCATACTGGTGTAA	0.383													T|||	1	0.000199681	0.0	0.0	5008	,	,		19445	0.001		0.0	False		,,,				2504	0.0															0													70	68	68					19																	38103228		2203	4300	6503	SO:0001819	synonymous_variant	163255			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1047T>C	19.37:g.38103228T>C			A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	ENST00000592533.1	37	CCDS12506.1																																																																																				0.383	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		C	38103228	T	C	38103228	2	2	611	1	0	0	0	0	0	0	0	1	17980	1403	49	3		3	ZNF540	19	38103228	Silent	SNP	T	TCGA-DV-5566-01A-01D-1534-10	27285045	38103228	21025755	34	33499											
ZNF606	80095	hgsc.bcm.edu;ucsc.edu	37	19	58490014	58490014	+	Missense_Mutation	SNP	T	T	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr19:58490014T>A	ENST00000341164.4	-	7	2654	c.2034A>T	c.(2032-2034)aaA>aaT	p.K678N	ZNF606_ENST00000536132.1_Missense_Mutation_p.K588N	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	678					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ATTTATAGGGTTTCTCACCAG	0.413																																																0													88	85	86					19																	58490014		2203	4300	6503	SO:0001583	missense	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2034A>T	19.37:g.58490014T>A	ENSP00000343617:p.Lys678Asn		A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.359135	0.41801	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.26067	1.76;1.76	4.43	-2.66	0.06077	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.141097	0.32593	N	0.005881	T	0.43144	0.1234	M	0.68728	2.09	0.43890	D	0.996514	D	0.89917	1.0	D	0.79108	0.992	T	0.24835	-1.0149	10	0.62326	D	0.03	.	12.8533	0.57871	0.0:0.5855:0.0:0.4145	.	678	Q8WXB4	ZN606_HUMAN	N	678;588	ENSP00000343617:K678N;ENSP00000445624:K588N	ENSP00000343617:K678N	K	-	3	2	ZNF606	63181826	0.000000	0.05858	0.965000	0.40720	0.989000	0.77384	-1.175000	0.03102	-0.833000	0.04245	-0.441000	0.05720	AAA		0.413	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		A	58490014	T	A	58490014	3	1	611	1	0	0	0	0	1	0	0	0	18037	1722	60	5	348	5	ZNF606	19	58490014	Missense_Mutation	SNP	T	TCGA-DV-5566-01A-01D-1534-10	20386786	58490014	638969	35	33500											
DSN1	79980	hgsc.bcm.edu;ucsc.edu	37	20	35381212	35381212	+	Silent	SNP	A	A	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr20:35381212A>T	ENST00000426836.1	-	11	1422	c.1050T>A	c.(1048-1050)tcT>tcA	p.S350S	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.2_Silent_p.S334S|DSN1_ENST00000373740.3_Silent_p.S278S|DSN1_ENST00000373750.4_Silent_p.S350S|DSN1_ENST00000373745.3_Silent_p.S350S|DSN1_ENST00000373734.4_Silent_p.S243S	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	350					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				ATCCAGATCCAGATCCATGTA	0.493																																																0													190	161	171					20																	35381212		2203	4300	6503	SO:0001819	synonymous_variant	79980			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.1050T>A	20.37:g.35381212A>T			B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Silent	SNP	ENST00000426836.1	37	CCDS13286.1																																																																																				0.493	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		T	35381212	A	T	35381212	2	4	611	1	0	0	0	0	0	0	0	1	4782	175	7	5		5	DSN1	20	35381212	Silent	SNP	A	TCGA-DV-5566-01A-01D-1534-10		35381212	27644308	36	33501											
ACO2	50	hgsc.bcm.edu;ucsc.edu	37	22	41914522	41914522	+	Silent	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr22:41914522G>A	ENST00000216254.4	+	8	1000	c.978G>A	c.(976-978)ttG>ttA	p.L326L	ACO2_ENST00000396512.3_Silent_p.L351L|ACO2_ENST00000466237.1_3'UTR	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	326					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						AGGATCACTTGGTGCCTGACC	0.443																																																0													175	162	166					22																	41914522		2203	4300	6503	SO:0001819	synonymous_variant	50			AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"aconitate hydratase, mitochondrial"	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.978G>A	22.37:g.41914522G>A			O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	ENST00000216254.4	37	CCDS14017.1																																																																																				0.443	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		A	41914522	G	A	41914522	2	1	611	1	0	0	0	0	0	0	0	1	147	1339	47	2		2	ACO2	22	41914522	Silent	SNP	G	TCGA-DV-5566-01A-01D-1534-10		41914522	9390044	37	33502											
MAP3K15	389840	hgsc.bcm.edu;ucsc.edu	37	X	19398361	19398361	+	Missense_Mutation	SNP	G	G	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chrX:19398361G>C	ENST00000338883.4	-	19	2465	c.2466C>G	c.(2464-2466)gaC>gaG	p.D822E	MAP3K15_ENST00000359173.3_Missense_Mutation_p.D257E|MAP3K15_ENST00000469203.2_Missense_Mutation_p.D654E|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GAGGCCCTTGGTCAATTATCT	0.532																																																0													52	45	47					X																	19398361		2203	4300	6503	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2466C>G	X.37:g.19398361G>C	ENSP00000345629:p.Asp822Glu		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	G	12.77	2.038013	0.35989	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.64085	-0.08;-0.08;-0.08	5.68	-1.27	0.09347	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.093690	0.64402	D	0.000001	T	0.45074	0.1324	N	0.04724	-0.175	0.54753	D	0.999982	P;P	0.46621	0.881;0.85	P;P	0.49332	0.607;0.536	T	0.43278	-0.9401	10	0.51188	T	0.08	.	11.4589	0.50197	0.5622:0.0:0.4378:0.0	.	297;822	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	E	822;257;654	ENSP00000345629:D822E;ENSP00000352093:D257E;ENSP00000428356:D654E	ENSP00000345629:D822E	D	-	3	2	MAP3K15	19308282	0.509000	0.26163	0.001000	0.08648	0.100000	0.18952	-0.086000	0.11233	-0.569000	0.06030	-0.354000	0.07668	GAC		0.532	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		C	19398361	G	C	19398361	3	2	611	1	0	0	0	0	1	0	0	0	9251	1252	44	4	1519	4	MAP3K15	23	19398361	Missense_Mutation	SNP	G	TCGA-DV-5566-01A-01D-1534-10		19398361	135872199	38	33503											
PNCK	139728	hgsc.bcm.edu;ucsc.edu	37	X	152936428	152936428	+	Silent	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chrX:152936428G>A	ENST00000370150.1	-	9	929	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L	PNCK_ENST00000370145.4_Silent_p.L268L|PNCK_ENST00000340888.3_Silent_p.L251L|PNCK_ENST00000447676.2_Silent_p.L334L|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000393831.2_Silent_p.L274L|PNCK_ENST00000370142.1_Silent_p.L274L			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCGCTCCAGAAGGTGCCGG	0.652																																																0													61	59	60					X																	152936428		2203	4300	6503	SO:0001819	synonymous_variant	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.751C>T	X.37:g.152936428G>A			B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37																																																																																					0.652	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		A	152936428	G	A	152936428	2	1	611	1	0	0	0	0	0	0	0	1	12147	933	33	2		2	PNCK	23	152936428	Silent	SNP	G	TCGA-DV-5566-01A-01D-1534-10	133538067	152936428	2334132	39	33504											
FLNA	2316	hgsc.bcm.edu;ucsc.edu	37	X	153583340	153583340	+	Silent	SNP	C	C	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chrX:153583340C>A	ENST00000369850.3	-	31	5306	c.5070G>T	c.(5068-5070)acG>acT	p.T1690T	FLNA_ENST00000422373.1_Silent_p.T1682T|FLNA_ENST00000344736.4_Silent_p.T1682T|FLNA_ENST00000360319.4_Silent_p.T1682T|FLNA_ENST00000369856.3_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1690					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCCATCAGGCGTGCACACGG	0.592											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													60	63	62					X																	153583340		2178	4245	6423	SO:0001819	synonymous_variant	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5070G>T	X.37:g.153583340C>A		1756	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	CCDS48194.1																																																																																				0.592	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			A	153583340	C	A	153583340	2	1	611	1	0	0	0	0	0	0	0	1	5935	755	27	4		4	FLNA	23	153583340	Silent	SNP	C	TCGA-DV-5566-01A-01D-1534-10	646912	153583340	1687220	40	33505											
MIA3	375056	hgsc.bcm.edu;ucsc.edu	37	1	222802075	222802075	+	Missense_Mutation	SNP	A	A	T			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr1:222802075A>T	ENST00000344922.5	+	4	1538	c.1513A>T	c.(1513-1515)Aac>Tac	p.N505Y	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.N505Y|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	505					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAATAACCTCAACTCTATGCC	0.403																																																0													150	146	147					1																	222802075		1927	4122	6049	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1513A>T	1.37:g.222802075A>T	ENSP00000340900:p.Asn505Tyr		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.37|12.37	1.918910|1.918910	0.33908|0.33908	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.41400|.	1.0;1.0|.	4.24|4.24	0.186|0.186	0.15105|0.15105	.|.	.|.	.|.	.|.	.|.	T|T	0.30696|0.30696	0.0773|0.0773	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P;P|.	0.48162|.	0.556;0.906|.	B;P|.	0.44732|.	0.195;0.459|.	T|T	0.25606|0.25606	-1.0127|-1.0127	9|5	0.56958|.	D|.	0.05|.	.|.	4.7722|4.7722	0.13162|0.13162	0.4365:0.2897:0.2737:0.0|0.4365:0.2897:0.2737:0.0	.|.	505;505|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	Y|L	505|87	ENSP00000340900:N505Y;ENSP00000340587:N505Y|.	ENSP00000325973:N505Y|.	N|Q	+|+	1|2	0|0	MIA3|MIA3	220868698|220868698	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.077000|0.077000	0.17291|0.17291	0.533000|0.533000	0.23082|0.23082	-0.178000|-0.178000	0.10672|0.10672	0.254000|0.254000	0.18369|0.18369	AAC|CAA		0.403	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		T	222802075	A	T	222802075	3	4	612	1	0	0	0	0	1	0	0	0	9567	130	5	5	1527	5	MIA3	1	222802075	Missense_Mutation	SNP	A	TCGA-DV-5568-01A-01D-1534-10		222802075	26448546	1	33506											
SLCO4C1	353189	hgsc.bcm.edu;ucsc.edu	37	5	101575087	101575087	+	Missense_Mutation	SNP	T	T	C			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr5:101575087T>C	ENST00000310954.6	-	12	2168	c.1882A>G	c.(1882-1884)Att>Gtt	p.I628V		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGTCCAGGAATTGTCCCTAAA	0.284																																																0													55	56	55					5																	101575087		2203	4299	6502	SO:0001583	missense	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1882A>G	5.37:g.101575087T>C	ENSP00000309741:p.Ile628Val			Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.136229	0.56936	.	.	ENSG00000173930	ENST00000310954	T	0.54279	0.58	5.6	5.6	0.85130	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.61451	0.2348	L	0.60957	1.885	0.80722	D	1	P	0.35894	0.526	P	0.47786	0.557	T	0.61098	-0.7131	10	0.42905	T	0.14	.	14.7703	0.69671	0.0:0.0:0.0:1.0	.	628	Q6ZQN7	SO4C1_HUMAN	V	628	ENSP00000309741:I628V	ENSP00000309741:I628V	I	-	1	0	SLCO4C1	101602986	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	3.806000	0.55583	2.133000	0.65898	0.528000	0.53228	ATT		0.284	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		C	101575087	T	C	101575087	3	2	612	1	0	0	0	0	1	0	0	0	14736	1493	52	3	300	3	SLCO4C1	5	101575087	Missense_Mutation	SNP	T	TCGA-DV-5568-01A-01D-1534-10		101575087	79340173	2	33507											
SRRT	51593	hgsc.bcm.edu;ucsc.edu	37	7	100479850	100479850	+	Missense_Mutation	SNP	A	A	C			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr7:100479850A>C	ENST00000347433.4	+	5	733	c.575A>C	c.(574-576)aAa>aCa	p.K192T	SRRT_ENST00000457580.2_Missense_Mutation_p.K192T|SRRT_ENST00000432932.1_Missense_Mutation_p.K192T|SRRT_ENST00000388793.4_Missense_Mutation_p.K192T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	192					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTGGCGCACAAAGATGAGGAG	0.587																																																0													99	84	89					7																	100479850		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.575A>C	7.37:g.100479850A>C	ENSP00000314491:p.Lys192Thr		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437764	0.62955	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000539682;ENST00000432932;ENST00000347433	.	.	.	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.991;0.991;0.991;0.995	T	0.82918	-0.0219	9	0.87932	D	0	.	11.9305	0.52843	1.0:0.0:0.0:0.0	.	192;192;192;192	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	T	192;192;107;192;192	.	ENSP00000314491:K192T	K	+	2	0	SRRT	100317786	1.000000	0.71417	0.986000	0.45419	0.932000	0.56968	8.830000	0.92063	1.902000	0.55061	0.460000	0.39030	AAA		0.587	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		C	100479850	A	C	100479850	3	2	612	1	0	0	0	0	1	0	0	0	15177	14	1	5	589	5	SRRT	7	100479850	Missense_Mutation	SNP	A	TCGA-DV-5568-01A-01D-1534-10		100479850	58658813	3	33508											
ZFHX4	79776	hgsc.bcm.edu;ucsc.edu	37	8	77762484	77762484	+	Missense_Mutation	SNP	C	C	G	rs574818617		TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr8:77762484C>G	ENST00000521891.2	+	9	4298	c.3850C>G	c.(3850-3852)Cct>Gct	p.P1284A	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1239A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1258A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1239A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAAAGGTGCCTGTCCCTGA	0.483										HNSCC(33;0.089)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17149	0.0		0.0	False		,,,				2504	0.001															0													37	39	38					8																	77762484		1933	4146	6079	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3850C>G	8.37:g.77762484C>G	ENSP00000430497:p.Pro1284Ala		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705782	0.48412	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46063	0.88;0.94;0.91;0.9	5.07	5.07	0.68467	.	0.000000	0.41938	U	0.000790	T	0.25382	0.0617	N	0.17474	0.49	0.36258	D	0.854344	B;B;B	0.25272	0.075;0.122;0.122	B;B;B	0.28305	0.04;0.088;0.088	T	0.16512	-1.0400	10	0.08599	T	0.76	.	12.0232	0.53354	0.0:0.9213:0.0:0.0787	.	1239;1239;1284	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	A	1284;1284;1239;1239;1258	ENSP00000430497:P1284A;ENSP00000399605:P1239A;ENSP00000050961:P1239A;ENSP00000430848:P1258A	ENSP00000050961:P1239A	P	+	1	0	ZFHX4	77925039	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.200000	0.32247	2.640000	0.89533	0.561000	0.74099	CCT		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		G	77762484	C	G	77762484	3	3	612	1	0	0	0	0	1	0	0	0	17640	739	26	4	3880	4	ZFHX4	8	77762484	Missense_Mutation	SNP	C	TCGA-DV-5568-01A-01D-1534-10		77762484	68601538	4	33509											
PTEN	5728	hgsc.bcm.edu;ucsc.edu	37	10	89711910	89711910	+	Nonsense_Mutation	SNP	T	T	G	rs587780711		TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr10:89711910T>G	ENST00000371953.3	+	6	1885	c.528T>G	c.(526-528)taT>taG	p.Y176*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	176	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y176del(2)|p.G165_*404del(1)|p.Y176*(1)|p.V175fs*3(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTATGTGTATTATTATAGCT	0.363		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	60	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Deletion - In frame(3)|Complex - frameshift(3)|Substitution - Nonsense(1)	prostate(16)|central_nervous_system(15)|skin(9)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|kidney(1)	GRCh37	CM020756|CM033668	PTEN	M							138	140	139					10																	89711910		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.528T>G	10.37:g.89711910T>G	ENSP00000361021:p.Tyr176*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	49	16.016428	0.99852	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.74	5.74	0.90152	.	0.174274	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.1166	10.6944	0.45890	0.0:0.0799:0.0:0.9201	.	.	.	.	X	176	.	.	Y	+	3	2	PTEN	89701890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.975000	0.49281	2.198000	0.70561	0.482000	0.46254	TAT		0.363	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		G	89711910	T	G	89711910	4	3	612	1	0	0	0	0	0	1	0	0	12743	1500	52	5	550	5	PTEN	10	89711910	Nonsense_Mutation	SNP	T	TCGA-DV-5568-01A-01D-1534-10		89711910	45822837	5	33510											
STARD13	90627	hgsc.bcm.edu;ucsc.edu	37	13	33716508	33716508	+	Missense_Mutation	SNP	C	C	A	rs368835264		TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr13:33716508C>A	ENST00000336934.5	-	4	442	c.326G>T	c.(325-327)cGa>cTa	p.R109L	STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000255486.4_Missense_Mutation_p.R101L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	109	SAM.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CGTATTTAGTCGTCTAAAAGG	0.358																																																0								C	,LEU/ARG,LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	137	122	127		,326,302	5.3	1	13		127	0,8600		0,0,4300	no	utr-5,missense,missense	STARD13	NM_052851.2,NM_178006.3,NM_178007.2	,102,102	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	,probably-damaging,probably-damaging	,109/1114,101/1106	33716508	1,13005	2203	4300	6503	SO:0001583	missense	90627			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.326G>T	13.37:g.33716508C>A	ENSP00000338785:p.Arg109Leu		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648265	0.87958	2.27E-4	0.0	ENSG00000133121	ENST00000255486;ENST00000336934;ENST00000399364	D;D	0.90900	-2.75;-2.75	5.27	5.27	0.74061	Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.96200	0.8761	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.992;0.995;0.992	D	0.96686	0.9507	10	0.87932	D	0	.	18.8508	0.92227	0.0:1.0:0.0:0.0	.	101;74;109;101	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	101;109;101	ENSP00000255486:R101L;ENSP00000338785:R109L	ENSP00000255486:R101L	R	-	2	0	STARD13	32614508	1.000000	0.71417	0.989000	0.46669	0.849000	0.48306	6.174000	0.71943	2.626000	0.88956	0.650000	0.86243	CGA		0.358	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		A	33716508	C	A	33716508	3	1	612	1	0	0	0	0	1	0	0	0	15261	884	31	4	3059	4	STARD13	13	33716508	Missense_Mutation	SNP	C	TCGA-DV-5568-01A-01D-1534-10		33716508	81453370	6	33511											
OR4M1	441670	hgsc.bcm.edu	37	14	20249071	20249071	+	Missense_Mutation	SNP	T	T	C			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr14:20249071T>C	ENST00000315957.4	+	1	671	c.590T>C	c.(589-591)tTa>tCa	p.L197S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGAGGAGTTAGTGATGATC	0.478																																																0													390	329	350					14																	20249071		2203	4298	6501	SO:0001583	missense	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.590T>C	14.37:g.20249071T>C	ENSP00000319654:p.Leu197Ser		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	12.45	1.942909	0.34283	.	.	ENSG00000176299	ENST00000315957	T	0.00216	8.53	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.193663	0.25250	N	0.032034	T	0.00271	0.0008	M	0.82433	2.59	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.32508	-0.9904	10	0.49607	T	0.09	-4.3162	11.9469	0.52934	0.0:0.0:0.0:1.0	.	197	Q8NGD0	OR4M1_HUMAN	S	197	ENSP00000319654:L197S	ENSP00000319654:L197S	L	+	2	0	OR4M1	19318911	0.008000	0.16893	0.974000	0.42286	0.987000	0.75469	1.832000	0.39151	1.995000	0.58328	0.414000	0.27820	TTA		0.478	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			C	20249071	T	C	20249071	3	2	612	1	0	0	0	0	1	0	0	0	11077	1764	61	3	592	3	OR4M1	14	20249071	Missense_Mutation	SNP	T	TCGA-DV-5568-01A-01D-1534-10		20249071	87100469	7	33512											
ARHGAP5	394	hgsc.bcm.edu;ucsc.edu	37	14	32562855	32562855	+	Missense_Mutation	SNP	A	A	T	rs141239257		TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr14:32562855A>T	ENST00000345122.3	+	2	3295	c.2980A>T	c.(2980-2982)Att>Ttt	p.I994F	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I994F|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I994F|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I994F|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	994					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTATAGTCCAATTGGGGATGA	0.408																																					NSCLC(9;77 350 3443 29227 41353)											0													120	115	117					14																	32562855		2203	4300	6503	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2980A>T	14.37:g.32562855A>T	ENSP00000371897:p.Ile994Phe		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	3.069	-0.191628	0.06299	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	L	0.27053	0.805	0.80722	D	1	B;B	0.16396	0.017;0.01	B;B	0.23716	0.048;0.021	T	0.25467	-1.0131	10	0.16896	T	0.51	.	16.215	0.82206	1.0:0.0:0.0:0.0	.	994;994	Q13017-2;Q13017	.;RHG05_HUMAN	F	994	ENSP00000452222:I994F;ENSP00000441692:I994F;ENSP00000371897:I994F;ENSP00000393307:I994F	ENSP00000371897:I994F	I	+	1	0	ARHGAP5	31632606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.910000	0.92685	2.288000	0.76882	0.533000	0.62120	ATT		0.408	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		T	32562855	A	T	32562855	3	4	612	1	0	0	0	0	1	0	0	0	886	101	4	5	2982	5	ARHGAP5	14	32562855	Missense_Mutation	SNP	A	TCGA-DV-5568-01A-01D-1534-10	12313784	32562855	74786685	8	33513											
PLEKHG3	26030	hgsc.bcm.edu;ucsc.edu	37	14	65207861	65207861	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr14:65207861G>T	ENST00000394691.1	+	16	1773	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.E47D|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.E75D|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.E486D			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	542							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AAGTCCTGGAGACACAGCTTG	0.597																																																0													96	99	98					14																	65207861		2203	4300	6503	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1626G>T	14.37:g.65207861G>T	ENSP00000378183:p.Glu542Asp		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37		.	.	.	.	.	.	.	.	.	.	G	7.460	0.644432	0.14451	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.29	-6.56	0.01848	.	0.381500	0.24899	N	0.034715	T	0.20333	0.0489	L	0.43701	1.375	0.09310	N	1	B;B;B;B	0.13145	0.006;0.006;0.004;0.007	B;B;B;B	0.14578	0.009;0.005;0.005;0.011	T	0.06162	-1.0842	10	0.35671	T	0.21	.	5.3419	0.15988	0.2291:0.1174:0.5377:0.1158	.	75;47;542;486	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	D	486;542;75;47	ENSP00000247226:E486D;ENSP00000378183:E542D;ENSP00000450945:E75D;ENSP00000450973:E47D	ENSP00000247226:E486D	E	+	3	2	PLEKHG3	64277614	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.552000	0.06020	-1.321000	0.02281	0.650000	0.86243	GAG		0.597	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		T	65207861	G	T	65207861	3	4	612	1	0	0	0	0	1	0	0	0	12072	933	33	4	1508	4	PLEKHG3	14	65207861	Missense_Mutation	SNP	G	TCGA-DV-5568-01A-01D-1534-10	32645006	65207861	42141679	9	33514											
CHRNB4	1143	hgsc.bcm.edu;ucsc.edu	37	15	78922278	78922278	+	Silent	SNP	C	C	T			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr15:78922278C>T	ENST00000261751.3	-	5	480	c.369G>A	c.(367-369)ggG>ggA	p.G123G	CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	123					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CCTCATAGGTCCCGTCGGCGC	0.562																																																0													35	38	37					15																	78922278		2195	4289	6484	SO:0001819	synonymous_variant	1143			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.369G>A	15.37:g.78922278C>T			A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	CCDS10306.1																																																																																				0.562	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			T	78922278	C	T	78922278	2	4	612	1	0	0	0	0	0	0	0	1	3395	842	30	2		2	CHRNB4	15	78922278	Silent	SNP	C	TCGA-DV-5568-01A-01D-1534-10		78922278	23609114	10	33515											
RHOT2	89941	hgsc.bcm.edu;ucsc.edu	37	16	720318	720318	+	Silent	SNP	C	C	T			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr16:720318C>T	ENST00000315082.4	+	7	513	c.399C>T	c.(397-399)ccC>ccT	p.P133P	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	133	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCGTGCTCCCCATCATGAGCC	0.622																																																0													81	84	83					16																	720318		2200	4299	6499	SO:0001819	synonymous_variant	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.399C>T	16.37:g.720318C>T			A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	CCDS10417.1																																																																																				0.622	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		T	720318	C	T	720318	2	4	612	1	0	0	0	0	0	0	0	1	13350	581	21	2		2	RHOT2	16	720318	Silent	SNP	C	TCGA-DV-5568-01A-01D-1534-10		720318	89634435	11	33516											
DSG2	1829	hgsc.bcm.edu;ucsc.edu	37	18	29101062	29101062	+	Splice_Site	SNP	C	C	G			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chr18:29101062C>G	ENST00000261590.8	+	5	588	c.379C>G	c.(379-381)Cta>Gta	p.L127V	DSG2_ENST00000585206.1_Splice_Site_p.L127V	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	127	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATGATTTCAGCTAACAGGTTA	0.323																																																0													72	67	69					18																	29101062		1831	4085	5916	SO:0001630	splice_region_variant	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.379-1C>G	18.37:g.29101062C>G			Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	3.260	-0.151470	0.06585	.	.	ENSG00000046604	ENST00000261590	T	0.72167	-0.63	5.72	2.87	0.33458	Cadherin (3);Cadherin-like (1);	0.281721	0.18351	N	0.143863	T	0.64349	0.2590	M	0.76574	2.34	0.42717	D	0.993666	B	0.12630	0.006	B	0.16289	0.015	T	0.55398	-0.8147	9	.	.	.	.	4.4518	0.11624	0.1175:0.5261:0.2275:0.1288	.	127	Q14126	DSG2_HUMAN	V	127	ENSP00000261590:L127V	.	L	+	1	2	DSG2	27355060	0.997000	0.39634	0.870000	0.34147	0.082000	0.17680	0.432000	0.21461	0.303000	0.22785	-0.291000	0.09656	CTA		0.323	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943	Missense_Mutation	G	29101062	C	G	29101062	5	3	612	1	0	0	0	0	0	0	1	0	4779	811	28	4	397	4	DSG2	18	29101062	Splice_Site	SNP	C	TCGA-DV-5568-01A-01D-1534-10		29101062	48976186	12	33517											
AIFM1	9131	hgsc.bcm.edu	37	X	129270128	129270129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DV-5568-01A-01D-1534-10	TCGA-DV-5568-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecb100d4-24da-40d9-aee1-2901cf3a655a	e16d4001-e9a2-4872-9226-d48dee1c1349	g.chrX:129270128_129270129insC	ENST00000287295.3	-	12	1426_1427	c.1196_1197insG	c.(1195-1197)ggcfs	p.G399fs	AIFM1_ENST00000440263.1_Frame_Shift_Ins_p.G47fs|AIFM1_ENST00000460436.2_Frame_Shift_Ins_p.G60fs|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Frame_Shift_Ins_p.G112fs|AIFM1_ENST00000319908.3_Frame_Shift_Ins_p.G395fs	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	399	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TGGGCTCCAGGCCCACAGCTGC	0.47																																																0																																										SO:0001589	frameshift_variant	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1197dupG	X.37:g.129270131_129270131dupC	ENSP00000287295:p.Gly399fs		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Frame_Shift_Ins	INS	ENST00000287295.3	37	CCDS14618.1																																																																																				0.47	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			C	129270129	-	C	129270128	7	5	612	1	0	1	1	0	0	0	0	0	426	1190	42	0	664	0	AIFM1	23	129270128	Frame_Shift_Ins	INS	-	TCGA-DV-5568-01A-01D-1534-10		129270128	26000432	13	33518											
GJA5	2702	hgsc.bcm.edu;ucsc.edu	37	1	147231205	147231205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr1:147231205C>A	ENST00000271348.2	-	2	303	c.142G>T	c.(142-144)Gag>Tag	p.E48*	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Nonsense_Mutation_p.E48*	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	48					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TCAGCCTGCTCATCCCCCCAG	0.567																																																0													111	100	103					1																	147231205		2203	4300	6503	SO:0001587	stop_gained	2702				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.142G>T	1.37:g.147231205C>A	ENSP00000271348:p.Glu48*		Q5T3B6|Q5U0N6	Nonsense_Mutation	SNP	ENST00000271348.2	37	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	37	6.571798	0.97671	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	.	.	.	X	48	.	ENSP00000271348:E48X	E	-	1	0	GJA5	145697829	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	7.811000	0.86092	2.724000	0.93272	0.563000	0.77884	GAG		0.567	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		A	147231205	C	A	147231205	4	1	613	1	0	0	0	0	0	1	0	0	6406	835	29	4	938	4	GJA5	1	147231205	Nonsense_Mutation	SNP	C	TCGA-DV-5569-01A-01D-1534-10		147231205	102019416	1	33519	250	2									
GJA5	2702	hgsc.bcm.edu;ucsc.edu	37	1	147231208	147231208	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr1:147231208C>T	ENST00000271348.2	-	2	300	c.139G>A	c.(139-141)Gat>Aat	p.D47N	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.D47N	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	47					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.D47fs*2(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GCCTGCTCATCCCCCCAGGAA	0.562																																																1	Insertion - Frameshift(1)	large_intestine(1)											108	98	102					1																	147231208		2203	4300	6503	SO:0001583	missense	2702				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.139G>A	1.37:g.147231208C>T	ENSP00000271348:p.Asp47Asn		Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374169	0.95923	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.99548	-6.14;-6.14;-6.14	5.78	5.78	0.91487	Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99816	0.9919	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97226	0.9881	10	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	47	P36382	CXA5_HUMAN	N	47	ENSP00000271348:D47N;ENSP00000358240:D47N;ENSP00000407645:D47N	ENSP00000271348:D47N	D	-	1	0	GJA5	145697832	1.000000	0.71417	0.643000	0.29450	0.994000	0.84299	7.811000	0.86092	2.724000	0.93272	0.563000	0.77884	GAT		0.562	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		T	147231208	C	T	147231208	3	4	613	1	0	0	0	0	1	0	0	0	6406	855	30	2	941	2	GJA5	1	147231208	Missense_Mutation	SNP	C	TCGA-DV-5569-01A-01D-1534-10	3	147231208	102019413	2	33520	250	2									
SNRNP200	23020	hgsc.bcm.edu;ucsc.edu	37	2	96945256	96945256	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr2:96945256C>T	ENST00000323853.5	-	36	5143	c.5066G>A	c.(5065-5067)gGc>gAc	p.G1689D	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1689	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTTGGCGTGGCCCACCATCTG	0.557																																																0													87	69	75					2																	96945256		2203	4300	6503	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5066G>A	2.37:g.96945256C>T	ENSP00000317123:p.Gly1689Asp		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	32	5.180542	0.94846	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	D	0.99824	-6.96	5.54	5.54	0.83059	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99910	0.9957	H	0.99368	4.535	0.80722	D	1	P	0.51147	0.942	P	0.62298	0.9	D	0.96106	0.9073	10	0.87932	D	0	-18.1148	18.419	0.90582	0.0:1.0:0.0:0.0	.	1689	O75643	U520_HUMAN	D	1689;148;272	ENSP00000317123:G1689D	ENSP00000317123:G1689D	G	-	2	0	SNRNP200	96308983	1.000000	0.71417	0.977000	0.42913	0.889000	0.51656	7.253000	0.78320	2.890000	0.99128	0.650000	0.86243	GGC		0.557	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		T	96945256	C	T	96945256	3	4	613	1	0	0	0	0	1	0	0	0	14858	739	26	2	1384	2	SNRNP200	2	96945256	Missense_Mutation	SNP	C	TCGA-DV-5569-01A-01D-1534-10		96945256	146254117	3	33521											
ANKRD36	375248	hgsc.bcm.edu	37	2	97817617	97817617	+	Splice_Site	SNP	T	T	C	rs77391458		TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr2:97817617T>C	ENST00000461153.2	+	13	1347	c.1103T>C	c.(1102-1104)aTt>aCt	p.I368T	ANKRD36_ENST00000420699.2_Splice_Site_p.I368T			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	368										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TTCTTCTAGATTATTTCAAAA	0.313																																																0													153	111	124					2																	97817617		692	1587	2279	SO:0001630	splice_region_variant	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1102-1T>C	2.37:g.97817617T>C			B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.828790	0.00584	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.20332	2.08;2.08	1.3	-2.61	0.06171	.	.	.	.	.	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33163	-0.9879	9	0.02654	T	1	.	3.3108	0.07016	0.3035:0.4573:0.0:0.2392	.	368	A6QL64	AN36A_HUMAN	T	368	ENSP00000419530:I368T;ENSP00000391950:I368T	ENSP00000391950:I368T	I	+	2	0	ANKRD36	97181344	0.052000	0.20516	0.012000	0.15200	0.054000	0.15201	-0.848000	0.04326	-1.790000	0.01263	-1.386000	0.01163	ATT		0.313	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		Missense_Mutation	C	97817617	T	C	97817617	5	2	613	1	0	0	0	0	0	0	1	0	665	1507	52	3	1153	3	ANKRD36	2	97817617	Splice_Site	SNP	T	TCGA-DV-5569-01A-01D-1534-10	872361	97817617	145381756	4	33522											
CCDC71	64925	hgsc.bcm.edu;ucsc.edu	37	3	49200640	49200641	+	In_Frame_Ins	INS	-	-	TTGGCC	rs78680466	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr3:49200640_49200641insTTGGCC	ENST00000321895.6	-	2	1107_1108	c.1001_1002insGGCCAA	c.(1000-1002)aaa>aaGGCCAAa	p.334_334K>KAK		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	334										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ctgccatgactttggccttggc	0.634																																																0																																										SO:0001652	inframe_insertion	64925			AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.996_1001dupGGCCAA	3.37:g.49200641_49200646dupTTGGCC	ENSP00000319006:p.AlaLys334dup		Q6IPE2|Q9H8H4|Q9H9F1	In_Frame_Ins	INS	ENST00000321895.6	37	CCDS2790.1																																																																																				0.634	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		TTGGCC	49200641	-	TTGGCC	49200640	7	5	613	1	0	1	1	0	0	0	0	0	2846	1606	56	0	405	0	CCDC71	3	49200640	In_Frame_Ins	INS	-	TCGA-DV-5569-01A-01D-1534-10		49200640	148821790	5	33523											
CAMK2D	817	hgsc.bcm.edu;ucsc.edu	37	4	114378599	114378599	+	Missense_Mutation	SNP	C	C	A			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr4:114378599C>A	ENST00000342666.5	-	17	1324	c.1325G>T	c.(1324-1326)gGa>gTa	p.G442V	CAMK2D_ENST00000454265.2_Missense_Mutation_p.G467V|CAMK2D_ENST00000394524.3_Missense_Mutation_p.G442V|CAMK2D_ENST00000514328.1_Missense_Mutation_p.G441V|CAMK2D_ENST00000511664.1_Missense_Mutation_p.G476V|CAMK2D_ENST00000505990.1_Missense_Mutation_p.G476V|CAMK2D_ENST00000394526.2_Missense_Mutation_p.G453V|CAMK2D_ENST00000394522.3_Missense_Mutation_p.G456V|CAMK2D_ENST00000418639.2_Missense_Mutation_p.G456V|CAMK2D_ENST00000515496.1_Missense_Mutation_p.G453V|CAMK2D_ENST00000379773.2_Missense_Mutation_p.G442V|CAMK2D_ENST00000508738.1_Missense_Mutation_p.G453V|CAMK2D_ENST00000296402.5_Missense_Mutation_p.G442V|CAMK2D_ENST00000429180.1_Missense_Mutation_p.G462V			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	442					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CTTTGGCATTCCACTGCCATC	0.488																																																0													186	173	178					4																	114378599		2203	4300	6503	SO:0001583	missense	817			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1325G>T	4.37:g.114378599C>A	ENSP00000339740:p.Gly442Val		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	CCDS3703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.686241|4.686241	0.88639|0.88639	.|.	.|.	ENSG00000145349|ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738|ENST00000513132	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.75260|.	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86657|0.86657	0.5985|0.5985	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.999;0.991;0.991;0.996;0.993|.	D;D;D;D;D|.	0.77557|.	0.99;0.97;0.935;0.961;0.961|.	D|D	0.88147|0.88147	0.2848|0.2848	10|5	0.87932|.	D|.	0|.	.|.	20.3396|20.3396	0.98756|0.98756	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	476;453;456;442;442|.	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557|.	.;.;.;.;KCC2D_HUMAN|.	V|C	442;467;462;456;453;442;476;442;453;441;456;476;442;453|145	ENSP00000378032:G442V;ENSP00000415248:G467V;ENSP00000415707:G462V;ENSP00000406131:G456V;ENSP00000378034:G453V;ENSP00000296402:G442V;ENSP00000425824:G476V;ENSP00000339740:G442V;ENSP00000423482:G453V;ENSP00000423677:G441V;ENSP00000378030:G456V;ENSP00000424245:G476V;ENSP00000369098:G442V;ENSP00000422566:G453V|.	ENSP00000296402:G442V|.	G|W	-|-	2|3	0|0	CAMK2D|CAMK2D	114598048|114598048	0.999000|0.999000	0.42202|0.42202	0.577000|0.577000	0.28562|0.28562	0.923000|0.923000	0.55619|0.55619	5.489000|5.489000	0.66875|0.66875	2.812000|2.812000	0.96745|0.96745	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.488	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			A	114378599	C	A	114378599	3	1	613	1	0	0	0	0	1	0	0	0	2603	855	30	4	194	4	CAMK2D	4	114378599	Missense_Mutation	SNP	C	TCGA-DV-5569-01A-01D-1534-10		114378599	76775677	6	33524											
HNRNPH1	3187	hgsc.bcm.edu;ucsc.edu	37	5	179043167	179043167	+	Silent	SNP	G	G	A			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr5:179043167G>A	ENST00000356731.5	-	11	2795	c.1260C>T	c.(1258-1260)taC>taT	p.Y420Y	HNRNPH1_ENST00000510411.1_Silent_p.Y400Y|HNRNPH1_ENST00000329433.6_Silent_p.Y420Y|HNRNPH1_ENST00000393432.4_Silent_p.Y420Y|HNRNPH1_ENST00000442819.2_Silent_p.Y420Y|HNRNPH1_ENST00000511300.2_Silent_p.Y130Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	420	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						AGCCGCCTCCGTAACCCCCAC	0.478																																																0													93	101	99					5																	179043167		2203	4300	6503	SO:0001819	synonymous_variant	3187			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1260C>T	5.37:g.179043167G>A			B3KW86|D3DWQ2|Q6IBM4	Silent	SNP	ENST00000356731.5	37	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	a	0.024	-1.384885	0.01194	.	.	ENSG00000169045	ENST00000523449;ENST00000523136	.	.	.	4.98	-3.43	0.04810	.	.	.	.	.	T	0.62392	0.2424	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61855	-0.6977	4	.	.	.	-6.8837	12.9671	0.58490	0.5233:0.0:0.4767:0.0	.	.	.	.	W	88;40	.	.	R	-	1	2	HNRNPH1	178975773	0.221000	0.23642	0.989000	0.46669	0.125000	0.20455	-0.427000	0.06999	-0.463000	0.06973	-2.252000	0.00282	CGG		0.478	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		A	179043167	G	A	179043167	2	1	613	1	0	0	0	0	0	0	0	1	7268	1140	40	1		1	HNRNPH1	5	179043167	Silent	SNP	G	TCGA-DV-5569-01A-01D-1534-10		179043167	1872093	7	33525											
SMPD2	6610	hgsc.bcm.edu;ucsc.edu	37	6	109763241	109763241	+	Missense_Mutation	SNP	A	A	G			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr6:109763241A>G	ENST00000258052.3	+	4	648	c.289A>G	c.(289-291)Atc>Gtc	p.I97V	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	97					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TACCCAGCACATCTACACTCT	0.512																																																0													233	227	229					6																	109763241		2203	4300	6503	SO:0001583	missense	6610			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.289A>G	6.37:g.109763241A>G	ENSP00000258052:p.Ile97Val		Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	A	6.514	0.463131	0.12402	.	.	ENSG00000135587	ENST00000258052	T	0.28454	1.61	5.22	2.29	0.28610	Endonuclease/exonuclease/phosphatase (2);	0.563585	0.19352	N	0.116367	T	0.03695	0.0105	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41034	-0.9531	10	0.27785	T	0.31	-17.8717	6.1025	0.20055	0.3194:0.0:0.6806:0.0	.	97	O60906	NSMA_HUMAN	V	97	ENSP00000258052:I97V	ENSP00000258052:I97V	I	+	1	0	SMPD2	109869934	0.711000	0.27906	0.735000	0.30896	0.772000	0.43724	1.140000	0.31516	0.802000	0.34089	-0.132000	0.14878	ATC		0.512	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			G	109763241	A	G	109763241	3	3	613	1	0	0	0	0	1	0	0	0	14811	217	8	3	303	3	SMPD2	6	109763241	Missense_Mutation	SNP	A	TCGA-DV-5569-01A-01D-1534-10		109763241	61351826	8	33526											
TAX1BP1	8887	hgsc.bcm.edu;ucsc.edu	37	7	27788296	27788296	+	Silent	SNP	T	T	G			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr7:27788296T>G	ENST00000396319.2	+	2	241	c.153T>G	c.(151-153)ggT>ggG	p.G51G	TAX1BP1_ENST00000265393.6_Silent_p.G51G|TAX1BP1_ENST00000543117.1_Silent_p.G51G|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000409980.1_Silent_p.G51G	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	51					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ATTGGGTTGGTATATTCAAGG	0.338																																																0													74	65	68					7																	27788296		2203	4300	6503	SO:0001819	synonymous_variant	8887			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.153T>G	7.37:g.27788296T>G			B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	CCDS5415.1																																																																																				0.338	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		G	27788296	T	G	27788296	2	3	613	1	0	0	0	0	0	0	0	1	15599	1625	57	5		5	TAX1BP1	7	27788296	Silent	SNP	T	TCGA-DV-5569-01A-01D-1534-10		27788296	131350367	9	33527											
RGS22	26166	hgsc.bcm.edu	37	8	101076166	101076180	+	In_Frame_Del	DEL	TCTTCTTCTTCTCCT	TCTTCTTCTTCTCCT	-	rs73702154|rs538962849	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	TCTTCTTCTTCTCCT	TCTTCTTCTTCTCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr8:101076166_101076180delTCTTCTTCTTCTCCT	ENST00000360863.6	-	8	1010_1024	c.816_830delAGGAGAAGAAGAAGA	c.(814-831)gaaggagaagaagaagag>gag	p.272_277EGEEEE>E	RGS22_ENST00000523437.1_In_Frame_Del_p.260_265EGEEEE>E|RGS22_ENST00000523287.1_In_Frame_Del_p.91_96EGEEEE>E	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	272	Poly-Glu.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TACAGACACCtcttcttcttctccttcttcttctt	0.367																																																0										68,3442		33,2,1720						-4.5	0			100	61,7741		27,7,3867	no	coding	RGS22	NM_015668.3		60,9,5587	A1A1,A1R,RR		0.7819,1.9373,1.1404				129,11183				SO:0001651	inframe_deletion	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.816_830delAGGAGAAGAAGAAGA	8.37:g.101076166_101076180delTCTTCTTCTTCTCCT	ENSP00000354109:p.Glu272_Glu276del		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	In_Frame_Del	DEL	ENST00000360863.6	37	CCDS43758.1																																																																																				0.367	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		-	101076180	TCTTCTTCTTCTCCT	-	101076166	7	5	613	1	0	1	0	1	0	0	0	0	13311	1551	54	0	3044	0	RGS22	8	101076166	In_Frame_Del	DEL	TCTTCTTCTTCTCCT	TCGA-DV-5569-01A-01D-1534-10		101076166	45287856	10	33528											
MYOF	26509	hgsc.bcm.edu;ucsc.edu	37	10	95139669	95139669	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr10:95139669C>T	ENST00000359263.4	-	21	1951	c.1952G>A	c.(1951-1953)aGt>aAt	p.S651N	MYOF_ENST00000371501.4_Missense_Mutation_p.S651N|MYOF_ENST00000371502.4_Missense_Mutation_p.S651N|MYOF_ENST00000358334.5_Missense_Mutation_p.S638N	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	651					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGGCGATGACTAATATCCTC	0.463																																																0													74	72	73					10																	95139669		1916	4120	6036	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1952G>A	10.37:g.95139669C>T	ENSP00000352208:p.Ser651Asn		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607469	0.87157	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.09	4.17	0.49024	.	0.039710	0.85682	D	0.000000	D	0.91492	0.7314	M	0.74546	2.27	0.58432	D	0.999999	P;D	0.89917	0.684;1.0	P;D	0.78314	0.464;0.991	D	0.92222	0.5785	10	0.56958	D	0.05	-17.1388	15.2377	0.73443	0.1417:0.8583:0.0:0.0	.	638;651	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	N	638;651;651;651	ENSP00000351094:S638N;ENSP00000352208:S651N;ENSP00000360556:S651N;ENSP00000360557:S651N	ENSP00000351094:S638N	S	-	2	0	MYOF	95129659	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.847000	0.69451	1.458000	0.47871	0.655000	0.94253	AGT		0.463	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		T	95139669	C	T	95139669	3	4	613	1	0	0	0	0	1	0	0	0	10091	565	20	2	4369	2	MYOF	10	95139669	Missense_Mutation	SNP	C	TCGA-DV-5569-01A-01D-1534-10		95139669	40395078	11	33529											
MUC5B	727897	hgsc.bcm.edu	37	11	1272694	1272694	+	Missense_Mutation	SNP	G	G	A	rs191989562	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr11:1272694G>A	ENST00000529681.1	+	31	14642	c.14584G>A	c.(14584-14586)Ggt>Agt	p.G4862S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.G4865S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4862	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGCCCACCGGTTCCACGGC	0.642													g|||	74	0.0147764	0.0166	0.0086	5008	,	,		19854	0.0		0.0378	False		,,,				2504	0.0082															0													80	100	93					11																	1272694		2148	4234	6382	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14584G>A	11.37:g.1272694G>A	ENSP00000436812:p.Gly4862Ser		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	36	0.016483516483516484	9	0.018292682926829267	2	0.0055248618784530384	0	0.0	25	0.032981530343007916	G	5.700	0.313661	0.10789	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15603	2.41;2.59	1.92	-3.83	0.04269	.	.	.	.	.	T	0.02571	0.0078	L	0.43923	1.385	0.09310	N	1	P;P	0.41420	0.749;0.749	B;B	0.29785	0.107;0.107	T	0.08953	-1.0697	9	0.87932	D	0	.	0.5962	0.00736	0.279:0.1847:0.3499:0.1864	.	5184;4865	A7Y9J9;E9PBJ0	.;.	S	4862;4865;4806;4561	ENSP00000436812:G4862S;ENSP00000415793:G4865S	ENSP00000343037:G4806S	G	+	1	0	MUC5B	1229270	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.820000	0.00749	-1.271000	0.02430	0.134000	0.15878	GGT		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		A	1272694	G	A	1272694	3	1	613	1	0	0	0	0	1	0	0	0	9981	1116	39	1	14715	1	MUC5B	11	1272694	Missense_Mutation	SNP	G	TCGA-DV-5569-01A-01D-1534-10		1272694	133733822	12	33530											
SLC22A25	387601	hgsc.bcm.edu;ucsc.edu	37	11	62985134	62985134	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr11:62985134G>A	ENST00000306494.6	-	3	579	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_Missense_Mutation_p.P28S|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AGGATGGTGGGAGCAAAGGCC	0.468																																																0													79	69	72					11																	62985134		2201	4298	6499	SO:0001583	missense	387601			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.580C>T	11.37:g.62985134G>A	ENSP00000307443:p.Pro194Ser			Missense_Mutation	SNP	ENST00000306494.6	37	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927544	0.52759	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.60548	0.54;0.18	3.2	3.2	0.36748	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.201385	0.42821	U	0.000653	T	0.71584	0.3357	M	0.75777	2.31	0.24812	N	0.99264	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.986	T	0.61496	-0.7051	10	0.51188	T	0.08	.	10.0123	0.41995	0.0:0.0:1.0:0.0	.	192;194	A4IF29;Q6T423	.;S22AP_HUMAN	S	194;28	ENSP00000307443:P194S;ENSP00000384208:P28S	ENSP00000307443:P194S	P	-	1	0	SLC22A25	62741710	1.000000	0.71417	0.089000	0.20774	0.030000	0.12068	6.272000	0.72575	1.356000	0.45884	0.530000	0.56133	CCC		0.468	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		A	62985134	G	A	62985134	3	1	613	1	0	0	0	0	1	0	0	0	14460	1174	41	2	1091	2	SLC22A25	11	62985134	Missense_Mutation	SNP	G	TCGA-DV-5569-01A-01D-1534-10	61712440	62985134	72021382	13	33531											
DYNC2H1	79659	hgsc.bcm.edu;ucsc.edu	37	11	103229004	103229004	+	Missense_Mutation	SNP	A	A	G			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr11:103229004A>G	ENST00000375735.2	+	83	12217	c.12073A>G	c.(12073-12075)Ata>Gta	p.I4025V	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I4032V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4025					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGGCAGATCCATAACAGCTGG	0.343																																																0													85	71	75					11																	103229004		1808	4077	5885	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12073A>G	11.37:g.103229004A>G	ENSP00000364887:p.Ile4025Val		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.269874	0.23221	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621;ENST00000533197	T;T;T	0.37584	3.13;3.13;1.19	5.44	3.44	0.39384	Dynein heavy chain (1);	0.190213	0.33290	N	0.005067	T	0.12347	0.0300	N	0.01228	-0.945	0.23813	N	0.996775	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24728	-1.0152	10	0.21540	T	0.41	.	9.3505	0.38136	0.0777:0.0:0.7787:0.1437	.	4025;4032	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	V	4025;4032;271;12	ENSP00000364887:I4025V;ENSP00000381167:I4032V;ENSP00000436736:I12V	ENSP00000364887:I4025V	I	+	1	0	DYNC2H1	102734214	1.000000	0.71417	0.541000	0.28102	0.840000	0.47671	5.911000	0.69939	0.625000	0.30304	-0.337000	0.08149	ATA		0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		G	103229004	A	G	103229004	3	3	613	1	0	0	0	0	1	0	0	0	4848	217	8	3	12428	3	DYNC2H1	11	103229004	Missense_Mutation	SNP	A	TCGA-DV-5569-01A-01D-1534-10	40243870	103229004	31777512	14	33532											
DHRS4L2	317749	hgsc.bcm.edu	37	14	24470690	24470691	+	Frame_Shift_Ins	INS	-	-	A	rs368539076|rs374759434	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr14:24470690_24470691insA	ENST00000335125.6	+	6	755_756	c.629_630insA	c.(628-633)ctgcacfs	p.H211fs	DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000558753.1_Frame_Shift_Ins_p.H136fs|DHRS4L2_ENST00000382755.4_Frame_Shift_Ins_p.H209fs|DHRS4L2_ENST00000537912.1_Frame_Shift_Ins_p.H136fs|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000534993.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	209						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GTGAACTGCCTGCACCTGGACT	0.525													A|-|A|deletion	178	0.0355431	0.0076	0.0187	5008	,	,		17571	0.1022		0.0139	False		,,,				2504	0.0389															0									,,,	146,4000		28,90,1955					,,,	2.5	1			148	336,7912		30,276,3818	no	frameshift,frameshift,frameshift,frameshift	DHRS4L2	NM_198083.3,NM_001193637.1,NM_001193636.1,NM_001193635.1	,,,	58,366,5773	A1A1,A1R,RR		4.0737,3.5215,3.889	,,,	,,,		482,11912				SO:0001589	frameshift_variant	317749				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	Exception_encountered	14.37:g.24470690_24470691insA	ENSP00000334801:p.His211fs		Q3YLD4	Frame_Shift_Ins	INS	ENST00000335125.6	37	CCDS9606.2																																																																																				0.525	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			A	24470691	-	A	24470690	7	5	613	1	0	1	1	0	0	0	0	0	4496	1580	55	0	651	0	DHRS4L2	14	24470690	Frame_Shift_Ins	INS	-	TCGA-DV-5569-01A-01D-1534-10		24470690	82878850	15	33533											
C14orf49	161176	hgsc.bcm.edu;ucsc.edu	37	14	95932291	95932291	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr14:95932291C>T	ENST00000334258.5	-	3	618	c.604G>A	c.(604-606)Gat>Aat	p.D202N	SYNE3_ENST00000557275.1_Missense_Mutation_p.D202N|SYNE3_ENST00000553340.1_Missense_Mutation_p.D202N	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	202					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TTCACTGCATCGTACTCAGCC	0.597																																																0													136	107	117					14																	95932291		2203	4300	6503	SO:0001583	missense	0			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.604G>A	14.37:g.95932291C>T	ENSP00000334308:p.Asp202Asn		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.887526	0.00527	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.09163	3.57;3.57;3.01	4.06	2.2	0.27929	.	0.834291	0.09984	N	0.730643	T	0.09555	0.0235	L	0.46157	1.445	0.20074	N	0.999934	B;B;B	0.26975	0.165;0.064;0.103	B;B;B	0.17979	0.02;0.02;0.009	T	0.38779	-0.9645	10	0.22706	T	0.39	-2.009	7.8181	0.29271	0.0:0.7376:0.0:0.2624	.	202;202;202	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	N	202	ENSP00000334308:D202N;ENSP00000450562:D202N;ENSP00000450774:D202N	ENSP00000334308:D202N	D	-	1	0	C14orf49	95002044	0.997000	0.39634	0.005000	0.12908	0.087000	0.18053	1.351000	0.34022	0.195000	0.20347	0.298000	0.19748	GAT		0.597	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		T	95932291	C	T	95932291	3	4	613	1	0	0	0	0	1	0	0	0	1778	884	31	1	2383	1	C14orf49	14	95932291	Missense_Mutation	SNP	C	TCGA-DV-5569-01A-01D-1534-10	71461601	95932291	11417249	16	33534											
NCOR1	9611	hgsc.bcm.edu	37	17	15974762	15974762	+	Silent	SNP	G	G	A			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr17:15974762G>A	ENST00000268712.3	-	30	4370	c.4113C>T	c.(4111-4113)gtC>gtT	p.V1371V	NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Silent_p.V1387V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1371	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTGTGCTCTGGACCACTTCTG	0.408																																																0													164	159	161					17																	15974762		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4113C>T	17.37:g.15974762G>A			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.408	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		A	15974762	G	A	15974762	2	1	613	1	0	0	0	0	0	0	0	1	10237	1161	41	2		2	NCOR1	17	15974762	Silent	SNP	G	TCGA-DV-5569-01A-01D-1534-10		15974762	65220448	17	33535											
ATAD5	79915	hgsc.bcm.edu;ucsc.edu	37	17	29161956	29161961	+	In_Frame_Del	DEL	CAATGT	CAATGT	-	rs60663953|rs80170526|rs398102309|rs72427574	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	CAATGT	CAATGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr17:29161956_29161961delCAATGT	ENST00000321990.4	+	2	1235_1240	c.857_862delCAATGT	c.(856-864)acaatgtca>aca	p.MS287del	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	287					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CCAGACTCTACAATGTCAATTTGTGT	0.354														721	0.14397	0.0703	0.1859	5008	,	,		20341	0.1359		0.1074	False		,,,				2504	0.2597															0										276,3982		14,248,1867						0.7	0		dbSNP_130	43	796,7436		29,738,3349	no	coding	ATAD5	NM_024857.3		43,986,5216	A1A1,A1R,RR		9.6696,6.4819,8.5829				1072,11418				SO:0001651	inframe_deletion	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.857_862delCAATGT	17.37:g.29161956_29161961delCAATGT	ENSP00000313171:p.Met287_Ser288del		Q05DH0|Q69YR6|Q9H9I1	In_Frame_Del	DEL	ENST00000321990.4	37	CCDS11260.1																																																																																				0.354	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		-	29161961	CAATGT	-	29161956	7	5	613	1	0	1	0	1	0	0	0	0	1076	478	17	0	863	0	ATAD5	17	29161956	In_Frame_Del	DEL	CAATGT	TCGA-DV-5569-01A-01D-1534-10	13187194	29161956	52033254	18	33536											
TTLL6	284076	hgsc.bcm.edu;ucsc.edu	37	17	46882287	46882303	+	Frame_Shift_Del	DEL	CTTTCCAAAGTCGGGCA	CTTTCCAAAGTCGGGCA	-	rs368924056|rs533233446|rs546126610	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	CTTTCCAAAGTCGGGCA	CTTTCCAAAGTCGGGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr17:46882287_46882303delCTTTCCAAAGTCGGGCA	ENST00000393382.3	-	2	295_311	c.154_170delTGCCCGACTTTGGAAAG	c.(154-171)tgcccgactttggaaagcfs	p.CPTLES52fs	TTLL6_ENST00000470462.2_5'Flank	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCCTTCCTGGCTTTCCAAAGTCGGGCACTGTGGCATC	0.581											OREG0024527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67	0.0133786	0.0038	0.0288	5008	,	,		18879	0.002		0.0209	False		,,,				2504	0.0194															0										18,2240		3,12,1114						-9.6	0			72	102,4466		6,90,2188	no	frameshift	TTLL6	NM_001130918.1		9,102,3302	A1A1,A1R,RR		2.2329,0.7972,1.758				120,6706				SO:0001589	frameshift_variant	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.154_170delTGCCCGACTTTGGAAAG	17.37:g.46882287_46882303delCTTTCCAAAGTCGGGCA	ENSP00000377043:p.Cys52fs	942		Frame_Shift_Del	DEL	ENST00000393382.3	37	CCDS45724.1																																																																																				0.581	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		-	46882303	CTTTCCAAAGTCGGGCA	-	46882287	7	5	613	1	0	1	0	1	0	0	0	0	16736	797	28	0	2642	0	TTLL6	17	46882287	Frame_Shift_Del	DEL	CTTTCCAAAGTCGGGCA	TCGA-DV-5569-01A-01D-1534-10	17720331	46882287	34312923	19	33537											
MUC16	94025	hgsc.bcm.edu	37	19	9018158	9018158	+	Missense_Mutation	SNP	A	A	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr19:9018158A>T	ENST00000397910.4	-	25	37983	c.37780T>A	c.(37780-37782)Tct>Act	p.S12594T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12596	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCAGCCAGAGTACAGAAGG	0.537																																																0													162	138	146					19																	9018158		2004	4169	6173	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37780T>A	19.37:g.9018158A>T	ENSP00000381008:p.Ser12594Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	4.227	0.040974	0.08196	.	.	ENSG00000181143	ENST00000397910	T	0.29142	1.58	1.86	-2.43	0.06522	.	.	.	.	.	T	0.32041	0.0816	M	0.88842	2.985	.	.	.	B	0.27166	0.17	B	0.17979	0.02	T	0.38112	-0.9676	8	0.87932	D	0	.	2.7914	0.05389	0.3277:0.2265:0.0:0.4458	.	12594	B5ME49	.	T	12594	ENSP00000381008:S12594T	ENSP00000381008:S12594T	S	-	1	0	MUC16	8879158	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-3.070000	0.00619	-0.790000	0.04492	0.164000	0.16699	TCT		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		T	9018158	A	T	9018158	3	4	613	1	0	0	0	0	1	0	0	0	9975	304	11	5	5983	5	MUC16	19	9018158	Missense_Mutation	SNP	A	TCGA-DV-5569-01A-01D-1534-10		9018158	50110825	20	33538											
BGN	633	hgsc.bcm.edu;ucsc.edu	37	X	152773750	152773750	+	Silent	SNP	C	C	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chrX:152773750C>T	ENST00000331595.4	+	8	1140	c.954C>T	c.(952-954)aaC>aaT	p.N318N	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	318					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGTGTCAACGACTTCTGTC	0.622																																																0													203	173	183					X																	152773750		2203	4300	6503	SO:0001819	synonymous_variant	633			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.954C>T	X.37:g.152773750C>T			D3DWU3|P13247	Silent	SNP	ENST00000331595.4	37	CCDS14721.1																																																																																				0.622	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		T	152773750	C	T	152773750	2	4	613	1	0	0	0	0	0	0	0	1	1418	535	19	1		1	BGN	23	152773750	Silent	SNP	C	TCGA-DV-5569-01A-01D-1534-10		152773750	2496810	21	33539											
DEM1	64789	hgsc.bcm.edu	37	1	40981245	40981246	+	Frame_Shift_Ins	INS	-	-	G	rs150018949	byFrequency	TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr1:40981245_40981246insG	ENST00000372703.1	+	2	2103_2104	c.1029_1030insG	c.(1030-1032)cggfs	p.R344fs	EXO5_ENST00000296380.4_Frame_Shift_Ins_p.R344fs|RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Ins_p.R344fs|RP11-656D10.5_ENST00000453437.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	344					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										CTTGGAAGTGCCGGACGTGTAC	0.54													-|-|G|insertion	42	0.00838658	0.0015	0.0144	5008	,	,		19343	0.0		0.0209	False		,,,				2504	0.0092															0										17,4249		0,17,2116						0.4	0.4		dbSNP_134	52	186,8064		3,180,3942	no	frameshift	DEM1	NM_022774.1		3,197,6058	A1A1,A1R,RR		2.2545,0.3985,1.6219				203,12313				SO:0001589	frameshift_variant	0			AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)"	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	Exception_encountered	1.37:g.40981245_40981246insG	ENSP00000361788:p.Arg344fs		D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Frame_Shift_Ins	INS	ENST00000372703.1	37	CCDS453.1																																																																																				0.54	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		G	40981246	-	G	40981245	7	5	614	1	0	1	1	0	0	0	0	0	4427	747	26	0	1031	0	DEM1	1	40981245	Frame_Shift_Ins	INS	-	TCGA-DV-5574-01A-01D-1534-10		40981245	208269376	1	33540											
RFX5	5993	hgsc.bcm.edu	37	1	151317012	151317012	+	Splice_Site	SNP	C	C	A			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr1:151317012C>A	ENST00000290524.4	-	7	532	c.354G>T	c.(352-354)cgG>cgT	p.R118R	RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452671.2_Splice_Site_p.R118R|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452513.2_Splice_Site_p.R78S|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000368870.2_Splice_Site_p.R118R	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	118					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACAGTACTTCCTGAGTGAGA	0.522																																																0													44	44	44					1																	151317012		2203	4300	6503	SO:0001630	splice_region_variant	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.354-1G>T	1.37:g.151317012C>A			B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	ENST00000290524.4	37	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897071	0.72639	.	.	ENSG00000143390	ENST00000452513	D	0.82711	-1.64	5.92	2.9	0.33743	.	0.102221	0.64402	D	0.000005	D	0.85835	0.5789	.	.	.	0.50632	D	0.999882	D	0.76494	0.999	D	0.87578	0.998	D	0.84807	0.0788	9	0.49607	T	0.09	.	9.1239	0.36803	0.0:0.7469:0.0:0.2531	.	78	B7Z848	.	S	78	ENSP00000398388:R78S	ENSP00000398388:R78S	R	-	3	2	RFX5	149583636	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.315000	0.33608	0.338000	0.23692	-0.367000	0.07326	AGG		0.522	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449	Silent	A	151317012	C	A	151317012	5	1	614	1	0	0	0	0	0	0	1	0	13272	869	30	4	1516	4	RFX5	1	151317012	Splice_Site	SNP	C	TCGA-DV-5574-01A-01D-1534-10	110335767	151317012	97933609	2	33541											
PLEKHA3	65977	hgsc.bcm.edu;ucsc.edu	37	2	179368497	179368497	+	Silent	SNP	C	C	T	rs139167699		TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr2:179368497C>T	ENST00000234453.5	+	8	1188	c.786C>T	c.(784-786)caC>caT	p.H262H		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	262						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GACCTGTTCACTGTTCAAAAA	0.358																																																0								C		0,4406		0,0,2203	84	85	85		786	6	1	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLEKHA3	NM_019091.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		262/301	179368497	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	65977			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.786C>T	2.37:g.179368497C>T			Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP	ENST00000234453.5	37	CCDS33336.1																																																																																				0.358	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		T	179368497	C	T	179368497	2	4	614	1	0	0	0	0	0	0	0	1	12059	564	20	2		2	PLEKHA3	2	179368497	Silent	SNP	C	TCGA-DV-5574-01A-01D-1534-10		179368497	63830876	3	33542											
CUL3	8452	hgsc.bcm.edu	37	2	225422498	225422498	+	Missense_Mutation	SNP	T	T	A			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr2:225422498T>A	ENST00000264414.4	-	2	480	c.142A>T	c.(142-144)Aat>Tat	p.N48Y	CUL3_ENST00000409777.1_Missense_Mutation_p.N24Y|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000344951.4_Intron|CUL3_ENST00000409096.1_Missense_Mutation_p.N24Y	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	48					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCACTGTTATTCTTACGCTGG	0.363																																																0													100	97	98					2																	225422498		2202	4297	6499	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.142A>T	2.37:g.225422498T>A	ENSP00000264414:p.Asn48Tyr		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.9|21.9	4.217138|4.217138	0.79352|0.79352	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000436172|ENST00000264414;ENST00000409096;ENST00000409777	.|T;T;T	.|0.34472	.|1.36;1.36;1.36	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68604|0.68604	0.3019|0.3019	M|M	0.91768|0.91768	3.24|3.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.995;0.995	T|T	0.76719|0.76719	-0.2856|-0.2856	5|10	.|0.87932	.|D	.|0	.|.	16.2421|16.2421	0.82418|0.82418	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|26;48	.|Q53S54;Q13618	.|.;CUL3_HUMAN	V|Y	68|48;24;24	.|ENSP00000264414:N48Y;ENSP00000387200:N24Y;ENSP00000386525:N24Y	.|ENSP00000264414:N48Y	E|N	-|-	2|1	0|0	CUL3|CUL3	225130742|225130742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.918000|7.918000	0.87506|0.87506	2.234000|2.234000	0.73211|0.73211	0.533000|0.533000	0.62120|0.62120	GAA|AAT		0.363	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			A	225422498	T	A	225422498	3	1	614	1	0	0	0	0	1	0	0	0	4058	1783	62	5	2224	5	CUL3	2	225422498	Missense_Mutation	SNP	T	TCGA-DV-5574-01A-01D-1534-10	46054001	225422498	17776875	4	33543											
WDR69	164781	hgsc.bcm.edu	37	2	228754594	228754594	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr2:228754594G>T	ENST00000309931.2	+	3	219	c.136G>T	c.(136-138)Gaa>Taa	p.E46*	DAW1_ENST00000545118.1_Nonsense_Mutation_p.E31*|SNORA25_ENST00000607153.1_RNA|DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000373666.2_Nonsense_Mutation_p.E46*	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	46						cilium (GO:0005929)											TGCGTTAGTAGAAGAAATCCA	0.373																																																0													85	82	83					2																	228754594		2203	4300	6503	SO:0001587	stop_gained	164781				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.136G>T	2.37:g.228754594G>T	ENSP00000311899:p.Glu46*		Q6ZRY1|Q8N776	Nonsense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100154	0.94197	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000440997;ENST00000545118	.	.	.	5.45	3.63	0.41609	.	2.034920	0.01926	N	0.040843	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	10.6887	0.45858	0.0732:0.1323:0.7945:0.0	.	.	.	.	X	46;46;31;31	.	ENSP00000311899:E46X	E	+	1	0	WDR69	228462838	0.999000	0.42202	0.329000	0.25429	0.854000	0.48673	2.818000	0.48041	0.756000	0.33013	0.650000	0.86243	GAA		0.373	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		T	228754594	G	T	228754594	4	4	614	1	0	0	0	0	0	1	0	0	17324	943	33	4	146	4	WDR69	2	228754594	Nonsense_Mutation	SNP	G	TCGA-DV-5574-01A-01D-1534-10	3332096	228754594	14444779	5	33544											
CNTN6	27255	hgsc.bcm.edu;ucsc.edu	37	3	1269542	1269542	+	Missense_Mutation	SNP	T	T	C			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr3:1269542T>C	ENST00000446702.2	+	4	850	c.223T>C	c.(223-225)Tat>Cat	p.Y75H	CNTN6_ENST00000539053.1_Missense_Mutation_p.Y3H|CNTN6_ENST00000350110.2_Missense_Mutation_p.Y75H			Q9UQ52	CNTN6_HUMAN	contactin 6	75	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TACTATGAGTTATCACTACAG	0.403																																																0													133	130	131					3																	1269542		2203	4300	6503	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.223T>C	3.37:g.1269542T>C	ENSP00000407822:p.Tyr75His		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.174338	0.38413	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.68624	-0.34;0.01;-0.34	5.47	4.28	0.50868	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.388068	0.22030	N	0.065611	T	0.62877	0.2464	N	0.20986	0.625	0.34226	D	0.675948	P;P	0.50819	0.712;0.939	P;P	0.55455	0.534;0.776	T	0.65236	-0.6217	10	0.15952	T	0.53	.	12.9826	0.58572	0.0:0.0:0.1347:0.8653	.	3;75	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	H	75;3;75	ENSP00000407822:Y75H;ENSP00000442791:Y3H;ENSP00000341882:Y75H	ENSP00000341882:Y75H	Y	+	1	0	CNTN6	1244542	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	2.250000	0.43178	0.973000	0.38340	0.455000	0.32223	TAT		0.403	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		C	1269542	T	C	1269542	3	2	614	1	0	0	0	0	1	0	0	0	3647	1754	61	3	233	3	CNTN6	3	1269542	Missense_Mutation	SNP	T	TCGA-DV-5574-01A-01D-1534-10		1269542	196752888	6	33545											
LMOD3	56203	hgsc.bcm.edu;ucsc.edu	37	3	69169051	69169056	+	In_Frame_Del	DEL	TCTTCT	TCTTCT	-	rs376142558	byFrequency	TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	TCTTCT	TCTTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr3:69169051_69169056delTCTTCT	ENST00000420581.2	-	2	629_634	c.450_455delAGAAGA	c.(448-456)gaagaagat>gat	p.EE150del	LMOD3_ENST00000489031.1_In_Frame_Del_p.EE150del|LMOD3_ENST00000475434.1_In_Frame_Del_p.EE150del	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	150	Glu-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		atcatcatcatcttcttcttcttcat	0.359																																																0																																										SO:0001651	inframe_deletion	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.450_455delAGAAGA	3.37:g.69169057_69169062delTCTTCT	ENSP00000414670:p.Glu150_Glu151del		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	In_Frame_Del	DEL	ENST00000420581.2	37	CCDS46862.1																																																																																				0.359	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		-	69169056	TCTTCT	-	69169051	7	5	614	1	0	1	0	1	0	0	0	0	8860	1435	50	0	1235	0	LMOD3	3	69169051	In_Frame_Del	DEL	TCTTCT	TCGA-DV-5574-01A-01D-1534-10	67899509	69169051	128853379	7	33546											
KIF4B	285643	hgsc.bcm.edu	37	5	154393562	154393562	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr5:154393562C>T	ENST00000435029.4	+	1	303	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	48	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGATAAATCCTTCACCTAC	0.488																																																0													114	111	112					5																	154393562		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.143C>T	5.37:g.154393562C>T	ENSP00000387875:p.Ser48Phe			Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	16.87	3.243030	0.58995	.	.	ENSG00000226650	ENST00000435029	T	0.76060	-0.99	1.48	0.455	0.16649	Kinesin, motor domain (4);	.	.	.	.	T	0.78266	0.4256	L	0.61218	1.895	0.40758	D	0.982979	P	0.44659	0.84	P	0.57009	0.811	T	0.76168	-0.3058	9	0.87932	D	0	.	7.1515	0.25614	0.0:0.7161:0.2838:0.0	.	48	Q2VIQ3	KIF4B_HUMAN	F	48	ENSP00000387875:S48F	ENSP00000387875:S48F	S	+	2	0	KIF4B	154373755	0.292000	0.24362	0.916000	0.36221	0.886000	0.51366	1.283000	0.33237	0.140000	0.18849	0.563000	0.77884	TCC		0.488	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			T	154393562	C	T	154393562	3	4	614	1	0	0	0	0	1	0	0	0	8306	855	30	2	145	2	KIF4B	5	154393562	Missense_Mutation	SNP	C	TCGA-DV-5574-01A-01D-1534-10		154393562	26521698	8	33547											
CCM2	83605	hgsc.bcm.edu;ucsc.edu	37	7	45067353	45067353	+	Intron	SNP	T	T	G			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr7:45067353T>G	ENST00000258781.6	+	2	179				CCM2_ENST00000381112.3_Missense_Mutation_p.I17S|CCM2_ENST00000474617.1_De_novo_Start_InFrame|CCM2_ENST00000475551.1_De_novo_Start_InFrame|CCM2_ENST00000461377.1_Intron|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000541586.1_Intron	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2						blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCAAAGAAATTCCTCAAACA	0.443																																																0													79	83	82					7																	45067353		2203	4300	6503	SO:0001627	intron_variant	83605			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.31-10499T>G	7.37:g.45067353T>G			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.173631	0.38413	.	.	ENSG00000136280	ENST00000381112	T	0.48522	0.81	4.3	-5.65	0.02459	.	.	.	.	.	T	0.29749	0.0743	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19200	0.013;0.034;0.013	B;B;B	0.19946	0.01;0.027;0.01	T	0.28459	-1.0043	9	0.59425	D	0.04	.	10.9092	0.47099	0.1302:0.6605:0.0:0.2093	.	17;17;17	B7Z5A6;B7Z8D5;E9PDJ3	.;.;.	S	17	ENSP00000370503:I17S	ENSP00000370503:I17S	I	+	2	0	CCM2	45033878	0.000000	0.05858	0.000000	0.03702	0.466000	0.32739	-0.296000	0.08287	-1.342000	0.02222	-0.263000	0.10527	ATT		0.443	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		G	45067353	T	G	45067353	1	3	614	0	1	0	0	0	0	0	0	0	2910	1493	52	5		5	CCM2	7	45067353	Intron	SNP	T	TCGA-DV-5574-01A-01D-1534-10		45067353	114071310	9	33548											
SBDS	51119	hgsc.bcm.edu;ucsc.edu	37	7	66453385	66453385	+	Silent	SNP	T	T	C			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr7:66453385T>C	ENST00000246868.2	-	5	909	c.726A>G	c.(724-726)gtA>gtG	p.V242V		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	242					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						CTCCTTCTTCTACATCTTTCA	0.403			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome																													yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0													169	152	158					7																	66453385		2203	4300	6503	SO:0001819	synonymous_variant	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.726A>G	7.37:g.66453385T>C			A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	CCDS5537.1																																																																																				0.403	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		C	66453385	T	C	66453385	2	2	614	1	0	0	0	0	0	0	0	1	13863	1509	53	3		3	SBDS	7	66453385	Silent	SNP	T	TCGA-DV-5574-01A-01D-1534-10	21386032	66453385	92685278	10	33549											
UBR5	51366	hgsc.bcm.edu	37	8	103274282	103274282	+	Missense_Mutation	SNP	A	A	T			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr8:103274282A>T	ENST00000520539.1	-	55	8309	c.7703T>A	c.(7702-7704)tTt>tAt	p.F2568Y	UBR5_ENST00000220959.4_Missense_Mutation_p.F2567Y|UBR5_ENST00000521922.1_Missense_Mutation_p.F2561Y|UBR5_ENST00000518205.1_Missense_Mutation_p.F296Y	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2568	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAAAAAAGCAAAATCATGCCA	0.338																																					Ovarian(131;96 1741 5634 7352 27489)											0													84	80	82					8																	103274282		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7703T>A	8.37:g.103274282A>T	ENSP00000429084:p.Phe2568Tyr		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029783	0.75504	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.64	5.64	0.86602	HECT (4);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.36672	1.1	0.58432	D	0.999993	D;D	0.58268	0.982;0.982	P;P	0.53593	0.73;0.73	T	0.50693	-0.8798	10	0.87932	D	0	.	15.8428	0.78864	1.0:0.0:0.0:0.0	.	2561;2568	E7EMW7;O95071	.;UBR5_HUMAN	Y	2568;2567;296;2561	ENSP00000429084:F2568Y;ENSP00000220959:F2567Y;ENSP00000428693:F296Y;ENSP00000427819:F2561Y	ENSP00000220959:F2567Y	F	-	2	0	UBR5	103343458	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.962000	0.93254	2.150000	0.67090	0.477000	0.44152	TTT		0.338	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103274282	A	T	103274282	3	4	614	1	0	0	0	0	1	0	0	0	16910	14	1	5	716	5	UBR5	8	103274282	Missense_Mutation	SNP	A	TCGA-DV-5574-01A-01D-1534-10		103274282	43089740	11	33550											
NOXA1	10811	hgsc.bcm.edu;ucsc.edu	37	9	140320783	140320783	+	Splice_Site	SNP	G	G	A			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr9:140320783G>A	ENST00000341349.2	+	2	440		c.e2+1		NOXA1_ENST00000392815.2_Splice_Site	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1						positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		AGCTGGCAAGGTGAGTACAGG	0.592																																																0													136	112	120					9																	140320783		2203	4300	6503	SO:0001630	splice_region_variant	10811			AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"serologically defined colon cancer antigen 31"	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.260+1G>A	9.37:g.140320783G>A			O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Splice_Site	SNP	ENST00000341349.2	37	CCDS7042.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708258	0.30322	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	.	.	.	4.67	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.31629	N	0.64931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8489	0.35188	0.1061:0.0:0.8939:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NOXA1	139440604	0.998000	0.40836	0.025000	0.17156	0.613000	0.37349	2.926000	0.48892	0.969000	0.38237	0.550000	0.68814	.		0.592	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1		Intron	A	140320783	G	A	140320783	5	1	614	1	0	0	0	0	0	0	1	0	10562	1275	44	2	267	2	NOXA1	9	140320783	Splice_Site	SNP	G	TCGA-DV-5574-01A-01D-1534-10		140320783	892648	12	33551											
SLC16A9	220963	hgsc.bcm.edu	37	10	61412636	61412653	+	In_Frame_Del	DEL	CCTCCCAGCAGGACGCAG	CCTCCCAGCAGGACGCAG	-	rs200128557|rs76116242|rs576698927	byFrequency	TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	CCTCCCAGCAGGACGCAG	CCTCCCAGCAGGACGCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr10:61412636_61412653delCCTCCCAGCAGGACGCAG	ENST00000395348.3	-	6	2043_2060	c.1407_1424delCTGCGTCCTGCTGGGAGG	c.(1405-1425)ttctgcgtcctgctgggaggt>ttt	p.CVLLGG470del	SLC16A9_ENST00000395347.1_In_Frame_Del_p.CVLLGG470del	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	470					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGAATAAAACCTCCCAGCAGGACGCAGAAGCCACTAA	0.427																																																0										11,4253		0,11,2121						-11.1	0			77	30,8224		0,30,4097	no	coding	SLC16A9	NM_194298.2		0,41,6218	A1A1,A1R,RR		0.3635,0.258,0.3275				41,12477				SO:0001651	inframe_deletion	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1407_1424delCTGCGTCCTGCTGGGAGG	10.37:g.61412636_61412653delCCTCCCAGCAGGACGCAG	ENSP00000378757:p.Cys470_Gly475del		Q6ZMI2|Q9UFH8	In_Frame_Del	DEL	ENST00000395348.3	37	CCDS7256.1																																																																																				0.427	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		-	61412653	CCTCCCAGCAGGACGCAG	-	61412636	7	5	614	1	0	1	0	1	0	0	0	0	14421	507	18	0	109	0	SLC16A9	10	61412636	In_Frame_Del	DEL	CCTCCCAGCAGGACGCAG	TCGA-DV-5574-01A-01D-1534-10		61412636	74122111	13	33552											
SBF2	81846	hgsc.bcm.edu	37	11	9875241	9875241	+	Silent	SNP	A	A	C			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr11:9875241A>C	ENST00000256190.8	-	20	2519	c.2382T>G	c.(2380-2382)gcT>gcG	p.A794A	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	794					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CATAGCTCTCAGCTACACTTC	0.368																																																0													184	167	172					11																	9875241		2201	4294	6495	SO:0001819	synonymous_variant	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2382T>G	11.37:g.9875241A>C			Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	CCDS31427.1																																																																																				0.368	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		C	9875241	A	C	9875241	2	2	614	1	0	0	0	0	0	0	0	1	13865	175	7	5		5	SBF2	11	9875241	Silent	SNP	A	TCGA-DV-5574-01A-01D-1534-10		9875241	125131275	14	33553											
AVIL	10677	hgsc.bcm.edu	37	12	58207097	58207097	+	Missense_Mutation	SNP	T	T	A			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr12:58207097T>A	ENST00000257861.3	-	3	681	c.251A>T	c.(250-252)gAc>gTc	p.D84V	AVIL_ENST00000537081.1_Missense_Mutation_p.D77V|RP11-571M6.18_ENST00000602327.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	84	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCCAGGTAGTCGTCCAGCTG	0.572																																																0													159	142	148					12																	58207097		2203	4300	6503	SO:0001583	missense	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.251A>T	12.37:g.58207097T>A	ENSP00000257861:p.Asp84Val		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692475	0.88735	.	.	ENSG00000135407	ENST00000537081;ENST00000257861;ENST00000549994	T;T;T	0.19105	2.17;2.17;2.17	4.93	4.93	0.64822	Gelsolin domain (1);	0.048065	0.85682	D	0.000000	T	0.49167	0.1541	M	0.84219	2.685	0.80722	D	1	D;D;D	0.67145	0.981;0.99;0.996	P;D;D	0.76575	0.743;0.967;0.988	T	0.55952	-0.8059	10	0.87932	D	0	-21.7151	13.9661	0.64209	0.0:0.0:0.0:1.0	.	77;84;84	O75366-2;F8VVU1;O75366	.;.;AVIL_HUMAN	V	77;84;84	ENSP00000443207:D77V;ENSP00000257861:D84V;ENSP00000449239:D84V	ENSP00000257861:D84V	D	-	2	0	AVIL	56493364	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.717000	0.84732	2.192000	0.70111	0.533000	0.62120	GAC		0.572	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		A	58207097	T	A	58207097	3	1	614	1	0	0	0	0	1	0	0	0	1227	1667	58	5	2276	5	AVIL	12	58207097	Missense_Mutation	SNP	T	TCGA-DV-5574-01A-01D-1534-10		58207097	75644798	15	33554											
TSPAN8	7103	hgsc.bcm.edu	37	12	71526584	71526584	+	Silent	SNP	G	G	A			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr12:71526584G>A	ENST00000393330.2	-	10	1017	c.465C>T	c.(463-465)gtC>gtT	p.V155V	TSPAN8_ENST00000546561.1_Silent_p.V155V|TSPAN8_ENST00000552128.1_Silent_p.V72V|TSPAN8_ENST00000247829.3_Silent_p.V155V			P19075	TSN8_HUMAN	tetraspanin 8	155					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CAGCTCCATTGACCAAACCGC	0.353																																																0													129	120	123					12																	71526584		2203	4300	6503	SO:0001819	synonymous_variant	7103			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.465C>T	12.37:g.71526584G>A			B2R7T7|Q9BS78	Silent	SNP	ENST00000393330.2	37	CCDS8999.1																																																																																				0.353	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		A	71526584	G	A	71526584	2	1	614	1	0	0	0	0	0	0	0	1	16658	1277	45	2		2	TSPAN8	12	71526584	Silent	SNP	G	TCGA-DV-5574-01A-01D-1534-10	13319487	71526584	62325311	16	33555											
PABPC3	5042	hgsc.bcm.edu	37	13	25671206	25671206	+	Silent	SNP	A	A	G	rs76614854		TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr13:25671206A>G	ENST00000281589.3	+	1	907	c.870A>G	c.(868-870)agA>agG	p.R290R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	290					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GGATCACCAGATACCAGGTTG	0.398																																																0													185	180	182					13																	25671206		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.870A>G	13.37:g.25671206A>G			Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																				0.398	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		G	25671206	A	G	25671206	2	3	614	1	0	0	0	0	0	0	0	1	11367	330	12	3		3	PABPC3	13	25671206	Silent	SNP	A	TCGA-DV-5574-01A-01D-1534-10		25671206	89498672	17	33556											
PABPC3	5042	hgsc.bcm.edu	37	13	25671742	25671742	+	Missense_Mutation	SNP	G	G	A	rs140135080	byFrequency	TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr13:25671742G>A	ENST00000281589.3	+	1	1443	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	469					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGGTTCCACGAGTCATGTCA	0.547																																																0													104	96	98					13																	25671742		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1406G>A	13.37:g.25671742G>A	ENSP00000281589:p.Arg469Gln		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	6.381	0.438497	0.12104	.	.	ENSG00000151846	ENST00000281589	T	0.26223	1.75	0.875	-0.195	0.13236	.	0.000000	0.40064	U	0.001189	T	0.13114	0.0318	L	0.35288	1.05	0.42075	D	0.991227	B	0.06786	0.001	B	0.06405	0.002	T	0.20638	-1.0269	10	0.10902	T	0.67	.	5.1429	0.14969	0.252:0.0:0.748:0.0	.	469	Q9H361	PABP3_HUMAN	Q	469	ENSP00000281589:R469Q	ENSP00000281589:R469Q	R	+	2	0	PABPC3	24569742	1.000000	0.71417	0.977000	0.42913	0.138000	0.21146	3.032000	0.49736	-0.094000	0.12374	0.313000	0.20887	CGA		0.547	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		A	25671742	G	A	25671742	3	1	614	1	0	0	0	0	1	0	0	0	11367	1058	37	1	1408	1	PABPC3	13	25671742	Missense_Mutation	SNP	G	TCGA-DV-5574-01A-01D-1534-10	536	25671742	89498136	18	33557											
DICER1	23405	hgsc.bcm.edu	37	14	95597894	95597894	+	Missense_Mutation	SNP	A	A	T			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr14:95597894A>T	ENST00000526495.1	-	6	681	c.390T>A	c.(388-390)aaT>aaA	p.N130K	DICER1_ENST00000541352.1_Missense_Mutation_p.N130K|DICER1_ENST00000343455.3_Missense_Mutation_p.N130K|DICER1_ENST00000527414.1_Missense_Mutation_p.N130K|DICER1_ENST00000393063.1_Missense_Mutation_p.N130K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	130	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCCAAGATGCATTTACTTCTA	0.368			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													167	156	160					14																	95597894		2203	4300	6503	SO:0001583	missense	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.390T>A	14.37:g.95597894A>T	ENSP00000437256:p.Asn130Lys		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	A	8.878	0.951037	0.18431	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.66	2.06	0.26882	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.449193	0.27460	N	0.019261	T	0.08492	0.0211	L	0.42686	1.345	0.24711	N	0.993204	B	0.11235	0.004	B	0.17979	0.02	T	0.43065	-0.9414	10	0.05959	T	0.93	-6.7176	4.8044	0.13312	0.669:0.0:0.2049:0.1262	.	130	Q9UPY3	DICER_HUMAN	K	130	ENSP00000343745:N130K;ENSP00000437256:N130K;ENSP00000376783:N130K;ENSP00000435681:N130K;ENSP00000444719:N130K	ENSP00000343745:N130K	N	-	3	2	DICER1	94667647	0.203000	0.23435	0.432000	0.26747	0.994000	0.84299	0.835000	0.27531	0.170000	0.19704	0.528000	0.53228	AAT		0.368	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			T	95597894	A	T	95597894	3	4	614	1	0	0	0	0	1	0	0	0	4523	214	8	5	5474	5	DICER1	14	95597894	Missense_Mutation	SNP	A	TCGA-DV-5574-01A-01D-1534-10		95597894	11751646	19	33558											
PALB2	79728	hgsc.bcm.edu	37	16	23647298	23647298	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr16:23647298G>A	ENST00000261584.4	-	4	721	c.569C>T	c.(568-570)tCa>tTa	p.S190L		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	190	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.|Interaction with RAD51.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGTTACTGGTGATCTAGCAGG	0.373			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0													176	180	179					16																	23647298		2197	4300	6497	SO:0001583	missense	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.569C>T	16.37:g.23647298G>A	ENSP00000261584:p.Ser190Leu		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812853	0.32053	.	.	ENSG00000083093	ENST00000261584	T	0.15487	2.42	5.85	2.82	0.32997	.	1.216190	0.05676	N	0.589527	T	0.16514	0.0397	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27400	-1.0075	10	0.66056	D	0.02	-0.0623	8.5962	0.33716	0.2507:0.0:0.7493:0.0	.	190	Q86YC2	PALB2_HUMAN	L	190	ENSP00000261584:S190L	ENSP00000261584:S190L	S	-	2	0	PALB2	23554799	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.415000	0.21181	0.950000	0.37743	0.655000	0.94253	TCA		0.373	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		A	23647298	G	A	23647298	3	1	614	1	0	0	0	0	1	0	0	0	11408	1294	45	2	3031	2	PALB2	16	23647298	Missense_Mutation	SNP	G	TCGA-DV-5574-01A-01D-1534-10		23647298	66707455	20	33559											
BPIL3	128859	hgsc.bcm.edu;ucsc.edu	37	20	31627270	31627270	+	Missense_Mutation	SNP	A	A	C			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr20:31627270A>C	ENST00000349552.1	+	10	1018	c.1018A>C	c.(1018-1020)Atg>Ctg	p.M340L		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	340						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CACCCTGGAGATGTTCGCAGC	0.532																																																0													120	126	124					20																	31627270		2203	4300	6503	SO:0001583	missense	0			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1018A>C	20.37:g.31627270A>C	ENSP00000344929:p.Met340Leu			Missense_Mutation	SNP	ENST00000349552.1	37	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	A	2.775	-0.254839	0.05829	.	.	ENSG00000167104	ENST00000349552	T	0.08458	3.09	4.43	3.3	0.37823	.	0.341351	0.26658	N	0.023178	T	0.09818	0.0241	M	0.72479	2.2	0.27411	N	0.954587	B	0.12013	0.005	B	0.12156	0.007	T	0.26916	-1.0089	10	0.20046	T	0.44	.	7.7905	0.29116	0.7873:0.2127:0.0:0.0	.	340	Q8NFQ5	BPIB6_HUMAN	L	340	ENSP00000344929:M340L	ENSP00000344929:M340L	M	+	1	0	BPIFB6	31090931	1.000000	0.71417	0.996000	0.52242	0.019000	0.09904	1.204000	0.32296	0.709000	0.31976	0.454000	0.30748	ATG		0.532	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		C	31627270	A	C	31627270	3	2	614	1	0	0	0	0	1	0	0	0	1495	333	12	5	1056	5	BPIL3	20	31627270	Missense_Mutation	SNP	A	TCGA-DV-5574-01A-01D-1534-10		31627270	31398250	21	33560											
PIWIL3	440822	hgsc.bcm.edu;ucsc.edu	37	22	25155858	25155869	+	In_Frame_Del	DEL	TGCTCCTCCTCT	TGCTCCTCCTCT	-	rs548233885|rs201419726|rs559892561	byFrequency	TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	TGCTCCTCCTCT	TGCTCCTCCTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr22:25155858_25155869delTGCTCCTCCTCT	ENST00000332271.5	-	3	606_617	c.190_201delAGAGGAGGAGCA	c.(190-201)agaggaggagcadel	p.RGGA64del	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	64					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCCTCCTCCTGCTCCTCCTCTTGCTGCTCTT	0.575														5	0.000998403	0.0008	0.0014	5008	,	,		21733	0.0		0.003	False		,,,				2504	0.0															0																																										SO:0001651	inframe_deletion	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.190_201delAGAGGAGGAGCA	22.37:g.25155858_25155869delTGCTCCTCCTCT	ENSP00000330031:p.Arg64_Ala67del			In_Frame_Del	DEL	ENST00000332271.5	37	CCDS33623.1																																																																																				0.575	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		-	25155869	TGCTCCTCCTCT	-	25155858	7	5	614	1	0	1	0	1	0	0	0	0	11961	1567	55	0	2523	0	PIWIL3	22	25155858	In_Frame_Del	DEL	TGCTCCTCCTCT	TCGA-DV-5574-01A-01D-1534-10		25155858	26148708	22	33561											
SYN3	8224	hgsc.bcm.edu;ucsc.edu	37	22	32934079	32934079	+	Missense_Mutation	SNP	C	C	A			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chr22:32934079C>A	ENST00000358763.2	-	9	1177	c.935G>T	c.(934-936)gGg>gTg	p.G312V	SYN3_ENST00000332840.5_Missense_Mutation_p.G312V	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	312	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTTCCAGTTCCCAGAGATGGA	0.517																																																0													171	150	157					22																	32934079		2203	4300	6503	SO:0001583	missense	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.935G>T	22.37:g.32934079C>A	ENSP00000351614:p.Gly312Val		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842156	0.71488	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.38401	1.14;1.14	5.21	5.21	0.72293	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78831	-0.2049	10	0.87932	D	0	-4.3261	19.1343	0.93420	0.0:1.0:0.0:0.0	.	311;312;312	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	V	312	ENSP00000351614:G312V;ENSP00000330219:G312V	ENSP00000330219:G312V	G	-	2	0	SYN3	31264079	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.814000	0.86154	2.563000	0.86464	0.650000	0.86243	GGG		0.517	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			A	32934079	C	A	32934079	3	1	614	1	0	0	0	0	1	0	0	0	15447	623	22	4	831	4	SYN3	22	32934079	Missense_Mutation	SNP	C	TCGA-DV-5574-01A-01D-1534-10	7778221	32934079	18370487	23	33562											
RPGR	6103	hgsc.bcm.edu;ucsc.edu	37	X	38144799	38144799	+	Intron	SNP	C	C	A			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chrX:38144799C>A	ENST00000339363.3	-	14	2688				RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.L1151F|RPGR_ENST00000318842.7_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TTTGTTACTTCAATTCCAAGT	0.363																																																0													99	87	91					X																	38144799		2202	4299	6501	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1547G>T	X.37:g.38144799C>A			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	c	1.195	-0.634215	0.03584	.	.	ENSG00000156313	ENST00000378505	T	0.61158	0.13	4.03	2.23	0.28157	.	.	.	.	.	T	0.67683	0.2919	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.65207	-0.6224	9	0.87932	D	0	.	6.6139	0.22766	0.0:0.5738:0.0:0.4262	.	1151	E9PE28	.	F	1151	ENSP00000367766:L1151F	ENSP00000367766:L1151F	L	-	3	2	RPGR	38029743	0.999000	0.42202	0.521000	0.27850	0.097000	0.18754	0.371000	0.20450	0.186000	0.20125	-0.450000	0.05554	TTG		0.363	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		A	38144799	C	A	38144799	1	1	614	0	1	0	0	0	0	0	0	0	13554	825	29	4		4	RPGR	23	38144799	Intron	SNP	C	TCGA-DV-5574-01A-01D-1534-10		38144799	117125761	24	33563											
SLC25A5	292	hgsc.bcm.edu;ucsc.edu	37	X	118603864	118603864	+	Missense_Mutation	SNP	G	G	A	rs199707714		TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chrX:118603864G>A	ENST00000317881.8	+	2	468	c.352G>A	c.(352-354)Gca>Aca	p.A118T	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	118					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	AGGGAATCTGGCATCGGGTGG	0.522																																																0																																										SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.352G>A	X.37:g.118603864G>A	ENSP00000360671:p.Ala118Thr		B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507272	0.64410	.	.	ENSG00000005022	ENST00000317881	T	0.79033	-1.23	4.35	4.35	0.52113	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.83852	2.665	0.80722	D	1	P	0.34997	0.479	B	0.33568	0.166	D	0.83564	0.0108	10	0.87932	D	0	.	15.2759	0.73742	0.0:0.0:1.0:0.0	.	118	P05141	ADT2_HUMAN	T	118	ENSP00000360671:A118T	ENSP00000360671:A118T	A	+	1	0	SLC25A5	118487892	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.356000	0.97091	2.100000	0.63781	0.529000	0.55759	GCA		0.522	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		A	118603864	G	A	118603864	3	1	614	1	0	0	0	0	1	0	0	0	14518	1203	42	2	358	2	SLC25A5	23	118603864	Missense_Mutation	SNP	G	TCGA-DV-5574-01A-01D-1534-10	80459065	118603864	36666696	25	33564											
MAGEC1	9947	hgsc.bcm.edu	37	X	140995291	140995291	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5574-01A-01D-1534-10	TCGA-DV-5574-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	84a62ab5-e442-4358-9d24-572cdf7eb44e	d20fbb8f-5cd8-4dba-9d7e-8840569b2809	g.chrX:140995291G>A	ENST00000285879.4	+	4	2387	c.2101G>A	c.(2101-2103)Gga>Aga	p.G701R	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	701										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGAGGGAGAGGACTC	0.562										HNSCC(15;0.026)																																						0													63	65	64					X																	140995291		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2101G>A	X.37:g.140995291G>A	ENSP00000285879:p.Gly701Arg		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	6.772	0.511339	0.12944	.	.	ENSG00000155495	ENST00000285879	T	0.03772	3.81	0.96	-0.242	0.13039	.	.	.	.	.	T	0.02455	0.0075	N	0.19112	0.55	0.23144	N	0.998224	D	0.54964	0.969	B	0.37989	0.262	T	0.42699	-0.9436	9	0.59425	D	0.04	.	1.4094	0.02287	0.315:0.0:0.3349:0.3501	.	701	O60732	MAGC1_HUMAN	R	701	ENSP00000285879:G701R	ENSP00000285879:G701R	G	+	1	0	MAGEC1	140822957	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.574000	0.05868	0.187000	0.20147	0.190000	0.17370	GGA		0.562	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		A	140995291	G	A	140995291	3	1	614	1	0	0	0	0	1	0	0	0	9182	1233	43	2	2107	2	MAGEC1	23	140995291	Missense_Mutation	SNP	G	TCGA-DV-5574-01A-01D-1534-10	22391427	140995291	14275269	26	33565											
RNPC3	55599	hgsc.bcm.edu;ucsc.edu	37	1	104070330	104070330	+	Missense_Mutation	SNP	T	T	C			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr1:104070330T>C	ENST00000533099.1	+	3	442	c.206T>C	c.(205-207)tTt>tCt	p.F69S	RNPC3_ENST00000423855.2_Missense_Mutation_p.F69S|RNPC3_ENST00000524631.1_Missense_Mutation_p.F69S|RP11-153F1.1_ENST00000444810.1_RNA|RP11-153F1.1_ENST00000447322.2_RNA			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	69	Necessary for interaction with PDCD7.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		CATACAGCTTTTGCCACATTC	0.333																																																0													144	119	127					1																	104070330		692	1590	2282	SO:0001583	missense	55599			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"RNA binding motif (RRM) containing"	18666	protein-coding gene	gene with protein product	"U11/U12 snRNP 65K"					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.206T>C	1.37:g.104070330T>C	ENSP00000432886:p.Phe69Ser		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Missense_Mutation	SNP	ENST00000533099.1	37	CCDS781.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296311	0.81025	.	.	ENSG00000185946	ENST00000524631;ENST00000531883;ENST00000533099;ENST00000423855	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.4	5.4	0.78164	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	H	0.98525	4.255	0.58432	D	0.999993	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.81607	-0.0856	10	0.87932	D	0	-20.2454	15.3799	0.74648	0.0:0.0:0.0:1.0	.	69;69	A8K1C9;Q96LT9	.;RBM40_HUMAN	S	69	ENSP00000437278:F69S;ENSP00000431344:F69S;ENSP00000432886:F69S;ENSP00000391432:F69S	ENSP00000391432:F69S	F	+	2	0	RNPC3	103842918	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.846000	0.69444	2.172000	0.68678	0.460000	0.39030	TTT		0.333	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390812.1	NM_017619		C	104070330	T	C	104070330	3	2	615	1	0	0	0	0	1	0	0	0	13514	1841	64	3	212	3	RNPC3	1	104070330	Missense_Mutation	SNP	T	TCGA-DV-5575-01A-01D-1534-10		104070330	145180291	1	33566											
HMCN1	83872	hgsc.bcm.edu;ucsc.edu	37	1	185939611	185939611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr1:185939611delC	ENST00000271588.4	+	15	2586	c.2357delC	c.(2356-2358)actfs	p.T786fs	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Frame_Shift_Del_p.T786fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	786	Ig-like C2-type 4.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCAAGATAACTCTGGATGTT	0.388																																																0													123	124	124					1																	185939611		2203	4300	6503	SO:0001589	frameshift_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2357delC	1.37:g.185939611delC	ENSP00000271588:p.Thr786fs		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	ENST00000271588.4	37	CCDS30956.1																																																																																				0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		-	185939611	C	-	185939611	7	5	615	1	0	1	0	1	0	0	0	0	7222	565	20	0	2415	0	HMCN1	1	185939611	Frame_Shift_Del	DEL	C	TCGA-DV-5575-01A-01D-1534-10	81869281	185939611	63311010	2	33567											
IGFN1	91156	hgsc.bcm.edu	37	1	201180222	201180222	+	Silent	SNP	G	G	A	rs28465285		TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr1:201180222G>A	ENST00000335211.4	+	12	6331	c.6201G>A	c.(6199-6201)gaG>gaA	p.E2067E	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	924						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGTGAATGAGGCAGGTTATA	0.473																																																0													30	25	26					1																	201180222		692	1591	2283	SO:0001819	synonymous_variant	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.6201G>A	1.37:g.201180222G>A			F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	CCDS53455.1																																																																																				0.473	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		A	201180222	G	A	201180222	2	1	615	1	0	0	0	0	0	0	0	1	7592	991	35	2		2	IGFN1	1	201180222	Silent	SNP	G	TCGA-DV-5575-01A-01D-1534-10	15240611	201180222	48070399	3	33568			1	53		2	2	22	N	G_A	2.442087e-05
IGFN1	91156	hgsc.bcm.edu	37	1	201180243	201180243	+	Silent	SNP	A	A	G	rs367952435		TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr1:201180243A>G	ENST00000335211.4	+	12	6352	c.6222A>G	c.(6220-6222)ttA>ttG	p.L2074L	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGAAGGATTTAGGGGCTCCTA	0.468																																																0													32	27	29					1																	201180243		692	1591	2283	SO:0001819	synonymous_variant	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.6222A>G	1.37:g.201180243A>G			F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	CCDS53455.1																																																																																				0.468	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		G	201180243	A	G	201180243	2	3	615	1	0	0	0	0	0	0	0	1	7592	417	15	3		3	IGFN1	1	201180243	Silent	SNP	A	TCGA-DV-5575-01A-01D-1534-10	21	201180243	48070378	4	33569			1	53		2	2	22	N	G_A	2.442087e-05
OR2T4	127074	hgsc.bcm.edu	37	1	248525308	248525308	+	Silent	SNP	A	A	G	rs201411128		TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr1:248525308A>G	ENST00000366475.1	+	1	426	c.426A>G	c.(424-426)tcA>tcG	p.S142S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGCAGGTTCAGAATTTTTCC	0.527																																																0																																										SO:0001819	synonymous_variant	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.426A>G	1.37:g.248525308A>G			Q6IEZ8	Silent	SNP	ENST00000366475.1	37	CCDS31113.1																																																																																				0.527	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		G	248525308	A	G	248525308	2	3	615	1	0	0	0	0	0	0	0	1	11029	175	7	3		3	OR2T4	1	248525308	Silent	SNP	A	TCGA-DV-5575-01A-01D-1534-10	47345065	248525308	725313	5	33570											
ASAP2	8853	hgsc.bcm.edu	37	2	9543400	9543400	+	Missense_Mutation	SNP	G	G	C			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr2:9543400G>C	ENST00000281419.3	+	28	3305	c.2965G>C	c.(2965-2967)Gat>Cat	p.D989H	ASAP2_ENST00000315273.4_Missense_Mutation_p.D944H	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	989	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CATTGATGGAGATCCTGGTCG	0.408																																																0													139	125	130					2																	9543400		2203	4299	6502	SO:0001583	missense	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2965G>C	2.37:g.9543400G>C	ENSP00000281419:p.Asp989His		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326616	0.60743	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.57907	1.48;0.37	5.86	5.86	0.93980	Src homology-3 domain (4);	0.181068	0.53938	D	0.000051	T	0.63861	0.2547	L	0.52126	1.63	0.53005	D	0.999967	P;B	0.46220	0.874;0.004	P;B	0.53593	0.73;0.031	T	0.59156	-0.7507	10	0.42905	T	0.14	.	20.1864	0.98220	0.0:0.0:1.0:0.0	.	944;989	O43150-2;O43150	.;ASAP2_HUMAN	H	989;944	ENSP00000281419:D989H;ENSP00000316404:D944H	ENSP00000281419:D989H	D	+	1	0	ASAP2	9460851	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.405000	0.97313	2.781000	0.95711	0.650000	0.86243	GAT		0.408	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		C	9543400	G	C	9543400	3	2	615	1	0	0	0	0	1	0	0	0	1011	942	33	4	3075	4	ASAP2	2	9543400	Missense_Mutation	SNP	G	TCGA-DV-5575-01A-01D-1534-10		9543400	233655973	6	33571											
REV1	51455	hgsc.bcm.edu;ucsc.edu	37	2	100019183	100019183	+	Silent	SNP	T	T	G			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr2:100019183T>G	ENST00000258428.3	-	21	3693	c.3465A>C	c.(3463-3465)ccA>ccC	p.P1155P	REV1_ENST00000465835.1_5'Flank|REV1_ENST00000393445.3_Silent_p.P1154P|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1155	Protein interaction domain; mediates interaction with DNA polymerase zeta.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATTGGGTGCTGGAGGTCTCA	0.468								Direct reversal of damage																																								0													95	96	96					2																	100019183		2203	4300	6503	SO:0001819	synonymous_variant	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3465A>C	2.37:g.100019183T>G			O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	CCDS2045.1																																																																																				0.468	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		G	100019183	T	G	100019183	2	3	615	1	0	0	0	0	0	0	0	1	13245	1567	55	5		5	REV1	2	100019183	Silent	SNP	T	TCGA-DV-5575-01A-01D-1534-10	90475783	100019183	143180190	7	33572											
SAG	6295	hgsc.bcm.edu	37	2	234240287	234240287	+	Splice_Site	SNP	G	G	A			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr2:234240287G>A	ENST00000409110.1	+	10	965	c.735G>A	c.(733-735)gtG>gtA	p.V245V	SAG_ENST00000449594.2_Splice_Site_p.V111V	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	245					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CCCTTGCAGTGGAACAGGTGG	0.582																																																0													110	113	112					2																	234240287		2049	4192	6241	SO:0001630	splice_region_variant	6295				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.734-1G>A	2.37:g.234240287G>A			A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	CCDS46545.1																																																																																				0.582	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541	Silent	A	234240287	G	A	234240287	5	1	615	1	0	0	0	0	0	0	1	0	13814	1362	47	2	769	2	SAG	2	234240287	Splice_Site	SNP	G	TCGA-DV-5575-01A-01D-1534-10	134221104	234240287	8959086	8	33573											
IMPG2	50939	hgsc.bcm.edu;ucsc.edu	37	3	101023037	101023037	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr3:101023037C>T	ENST00000193391.7	-	3	641	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	152					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AAATTTGTGCCCATTTCAAAT	0.408																																																0													159	154	156					3																	101023037		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.454G>A	3.37:g.101023037C>T	ENSP00000193391:p.Gly152Ser		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473714	0.96291	.	.	ENSG00000081148	ENST00000193391	T	0.52526	0.66	5.75	5.75	0.90469	.	0.153092	0.45126	D	0.000388	T	0.67154	0.2863	M	0.75615	2.305	0.54753	D	0.999987	D;D	0.64830	0.994;0.989	P;P	0.58331	0.837;0.68	T	0.69587	-0.5105	10	0.72032	D	0.01	-2.7229	19.5356	0.95253	0.0:1.0:0.0:0.0	.	152;152	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	S	152	ENSP00000193391:G152S	ENSP00000193391:G152S	G	-	1	0	IMPG2	102505727	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	7.380000	0.79704	2.716000	0.92895	0.650000	0.86243	GGC		0.408	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			T	101023037	C	T	101023037	3	4	615	1	0	0	0	0	1	0	0	0	7731	623	22	2	3339	2	IMPG2	3	101023037	Missense_Mutation	SNP	C	TCGA-DV-5575-01A-01D-1534-10		101023037	96999393	9	33574											
TEC	7006	hgsc.bcm.edu;ucsc.edu	37	4	48139497	48139497	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr4:48139497G>T	ENST00000381501.3	-	18	1989	c.1832C>A	c.(1831-1833)tCt>tAt	p.S611Y		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATCTTCGAAAGAAGGCCTTCC	0.438																																																0													110	103	106					4																	48139497		2203	4300	6503	SO:0001583	missense	100124696			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1832C>A	4.37:g.48139497G>T	ENSP00000370912:p.Ser611Tyr		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	G	9.125	1.009856	0.19277	.	.	ENSG00000135605	ENST00000381501	T	0.66995	-0.24	4.95	4.95	0.65309	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.176248	0.37136	N	0.002229	T	0.76659	0.4018	M	0.86268	2.805	0.30554	N	0.765128	P	0.44734	0.842	P	0.50378	0.639	T	0.79517	-0.1771	10	0.59425	D	0.04	.	12.2462	0.54572	0.0:0.0:0.8298:0.1702	.	611	P42680	TEC_HUMAN	Y	611	ENSP00000370912:S611Y	ENSP00000370912:S611Y	S	-	2	0	TEC	47834254	0.996000	0.38824	1.000000	0.80357	0.146000	0.21551	4.049000	0.57397	2.441000	0.82636	0.591000	0.81541	TCT		0.438	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			T	48139497	G	T	48139497	3	4	615	1	0	0	0	0	1	0	0	0	15747	942	33	4	67	4	TEC	4	48139497	Missense_Mutation	SNP	G	TCGA-DV-5575-01A-01D-1534-10		48139497	143014779	10	33575	251	2									
TEC	7006	hgsc.bcm.edu;ucsc.edu	37	4	48139499	48139499	+	Silent	SNP	A	A	G			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr4:48139499A>G	ENST00000381501.3	-	18	1987	c.1830T>C	c.(1828-1830)ccT>ccC	p.P610P		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	610	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTTCGAAAGAAGGCCTTCCCT	0.443																																																0													110	103	105					4																	48139499		2203	4300	6503	SO:0001819	synonymous_variant	100124696			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1830T>C	4.37:g.48139499A>G			B7ZKZ6|Q3MIS5	Silent	SNP	ENST00000381501.3	37	CCDS3481.1																																																																																				0.443	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			G	48139499	A	G	48139499	2	3	615	1	0	0	0	0	0	0	0	1	15747	59	3	3		3	TEC	4	48139499	Silent	SNP	A	TCGA-DV-5575-01A-01D-1534-10	2	48139499	143014777	11	33576	251	2									
IBSP	3381	hgsc.bcm.edu;ucsc.edu	37	4	88732929	88732929	+	Missense_Mutation	SNP	G	G	C			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr4:88732929G>C	ENST00000226284.5	+	7	888	c.821G>C	c.(820-822)gGa>gCa	p.G274A		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	274					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TACGACAATGGATATGAAATC	0.478																																																0													66	63	64					4																	88732929		2203	4300	6503	SO:0001583	missense	3381				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.821G>C	4.37:g.88732929G>C	ENSP00000226284:p.Gly274Ala			Missense_Mutation	SNP	ENST00000226284.5	37	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693487	0.30052	.	.	ENSG00000029559	ENST00000226284	T	0.11930	2.73	5.36	-0.849	0.10723	.	0.507607	0.19563	N	0.111283	T	0.11024	0.0269	L	0.48362	1.52	0.09310	N	1	B	0.20887	0.049	B	0.26693	0.072	T	0.24083	-1.0170	10	0.38643	T	0.18	.	6.3411	0.21322	0.214:0.3753:0.4107:0.0	.	274	P21815	SIAL_HUMAN	A	274	ENSP00000226284:G274A	ENSP00000226284:G274A	G	+	2	0	IBSP	88951953	0.646000	0.27295	0.029000	0.17559	0.985000	0.73830	1.021000	0.30040	-0.586000	0.05898	0.591000	0.81541	GGA		0.478	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			C	88732929	G	C	88732929	3	2	615	1	0	0	0	0	1	0	0	0	7477	1174	41	4	843	4	IBSP	4	88732929	Missense_Mutation	SNP	G	TCGA-DV-5575-01A-01D-1534-10	40593430	88732929	102421347	12	33577											
TFR2	7036	hgsc.bcm.edu;ucsc.edu	37	7	100218519	100218519	+	Silent	SNP	C	C	G	rs374766778	byFrequency	TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr7:100218519C>G	ENST00000462107.1	-	19	2654	c.2367G>C	c.(2365-2367)gcG>gcC	p.A789A	TFR2_ENST00000223051.3_Silent_p.A789A|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000544242.1_Silent_p.A330A			Q9UP52	TFR2_HUMAN	transferrin receptor 2	789					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CCCCGCTAAGCGCATTGGCTG	0.632																																																0													52	47	49					7																	100218519		2203	4300	6503	SO:0001819	synonymous_variant	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2367G>C	7.37:g.100218519C>G			A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	ENST00000462107.1	37	CCDS34707.1																																																																																				0.632	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		G	100218519	C	G	100218519	2	3	615	1	0	0	0	0	0	0	0	1	15816	755	27	4		4	TFR2	7	100218519	Silent	SNP	C	TCGA-DV-5575-01A-01D-1534-10		100218519	58920144	13	33578											
RIMS2	9699	hgsc.bcm.edu;ucsc.edu	37	8	105025708	105025708	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr8:105025708C>T	ENST00000507740.1	+	16	2761	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F	RIMS2_ENST00000406091.3_Missense_Mutation_p.S1028F|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Missense_Mutation_p.S867F	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1090	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATCACAGATCCAGATCAACA	0.478										HNSCC(12;0.0054)																																						0													93	93	93					8																	105025708		1977	4157	6134	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.2525C>T	8.37:g.105025708C>T	ENSP00000423559:p.Ser842Phe		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000507740.1	37	CCDS43761.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702830	0.68501	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894	T;T;T;T;T	0.22134	1.97;2.51;2.23;2.27;2.12	5.58	5.58	0.84498	.	.	.	.	.	T	0.40015	0.1100	L	0.39898	1.24	0.80722	D	1	D;D;D;P	0.71674	0.998;0.991;0.968;0.935	D;D;P;P	0.70487	0.969;0.918;0.805;0.765	T	0.09530	-1.0670	9	0.62326	D	0.03	.	19.19	0.93663	0.0:1.0:0.0:0.0	.	1090;867;842;1028	Q9UQ26;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.	F	1028;1065;1028;1090;867;842;842	ENSP00000427018:S1028F;ENSP00000384892:S1028F;ENSP00000262231:S867F;ENSP00000423559:S842F;ENSP00000386228:S842F	ENSP00000262231:S867F	S	+	2	0	RIMS2	105094884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.636000	0.67848	2.636000	0.89361	0.460000	0.39030	TCC		0.478	RIMS2-005	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367215.1	NM_001100117		T	105025708	C	T	105025708	3	4	615	1	0	0	0	0	1	0	0	0	13374	855	30	2	3349	2	RIMS2	8	105025708	Missense_Mutation	SNP	C	TCGA-DV-5575-01A-01D-1534-10		105025708	41338314	14	33579											
TATDN1	83940	hgsc.bcm.edu;ucsc.edu	37	8	125527986	125527986	+	Splice_Site	SNP	C	C	T			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr8:125527986C>T	ENST00000276692.6	-	6	427		c.e6+1		TATDN1_ENST00000519548.1_Splice_Site|TATDN1_ENST00000521546.1_Splice_Site|TATDN1_ENST00000517678.1_Splice_Site|TATDN1_ENST00000605953.1_Splice_Site	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AATTTCCTTACTTGAGTTGAG	0.289																																																0													48	49	49					8																	125527986		2203	4300	6503	SO:0001630	splice_region_variant	83940			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.389+1G>A	8.37:g.125527986C>T			B2R5J0|Q8TD02|Q9BY40	Splice_Site	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727040	0.69074	.	.	ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000517678;ENST00000519232;ENST00000523888;ENST00000523152	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TATDN1	125597167	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	6.864000	0.75494	2.570000	0.86706	0.563000	0.77884	.		0.289	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026	Intron	T	125527986	C	T	125527986	5	4	615	1	0	0	0	0	0	0	1	0	15596	579	20	2	531	2	TATDN1	8	125527986	Splice_Site	SNP	C	TCGA-DV-5575-01A-01D-1534-10	20502278	125527986	20836036	15	33580											
GPR172A	79581	hgsc.bcm.edu	37	8	145584534	145584535	+	Frame_Shift_Ins	INS	-	-	G	rs144821688		TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr8:145584534_145584535insG	ENST00000532887.1	+	5	1780_1781	c.1197_1198insG	c.(1198-1200)gggfs	p.G400fs	FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000540505.1_Frame_Shift_Ins_p.G312fs|SLC52A2_ENST00000527078.1_Frame_Shift_Ins_p.G400fs|SLC52A2_ENST00000402965.1_Frame_Shift_Ins_p.G400fs|SLC52A2_ENST00000530047.1_Frame_Shift_Ins_p.G400fs|SLC52A2_ENST00000329994.2_Frame_Shift_Ins_p.G400fs|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000526752.1_Frame_Shift_Ins_p.R68fs			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	400					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TGCTGCATGGCGGGGGCCGGCC	0.653																																																0																																										SO:0001589	frameshift_variant	0			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1202dupG	8.37:g.145584539_145584539dupG	ENSP00000436768:p.Gly400fs		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Frame_Shift_Ins	INS	ENST00000532887.1	37	CCDS6423.1																																																																																				0.653	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		G	145584535	-	G	145584534	7	5	615	1	0	1	1	0	0	0	0	0	6671	755	27	0	1211	0	GPR172A	8	145584534	Frame_Shift_Ins	INS	-	TCGA-DV-5575-01A-01D-1534-10	20056548	145584534	779488	16	33581											
KIAA0020	9933	hgsc.bcm.edu;ucsc.edu	37	9	2807851	2807851	+	Missense_Mutation	SNP	A	A	T			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr9:2807851A>T	ENST00000397885.2	-	17	1983	c.1777T>A	c.(1777-1779)Tgg>Agg	p.W593R		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	593						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ACACTAGCCCAGGACTTCAGG	0.393																																																0													124	109	114					9																	2807851		2203	4300	6503	SO:0001583	missense	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1777T>A	9.37:g.2807851A>T	ENSP00000380982:p.Trp593Arg		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	A	17.59	3.428230	0.62844	.	.	ENSG00000080608	ENST00000397885	T	0.13538	2.58	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.104913	0.64402	D	0.000001	T	0.42337	0.1198	M	0.84948	2.725	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.45131	-0.9282	10	0.87932	D	0	-16.7665	14.9163	0.70801	1.0:0.0:0.0:0.0	.	453;593	B2RDG4;Q15397	.;K0020_HUMAN	R	593	ENSP00000380982:W593R	ENSP00000380982:W593R	W	-	1	0	KIAA0020	2797851	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	7.097000	0.76967	2.261000	0.74972	0.533000	0.62120	TGG		0.393	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		T	2807851	A	T	2807851	3	4	615	1	0	0	0	0	1	0	0	0	8154	188	7	5	177	5	KIAA0020	9	2807851	Missense_Mutation	SNP	A	TCGA-DV-5575-01A-01D-1534-10		2807851	138405580	17	33582											
POLR1E	64425	hgsc.bcm.edu;ucsc.edu	37	9	37495950	37495950	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr9:37495950C>T	ENST00000377798.4	+	8	832	c.719C>T	c.(718-720)tCa>tTa	p.S240L	POLR1E_ENST00000442009.2_Missense_Mutation_p.S170L|POLR1E_ENST00000377792.3_Missense_Mutation_p.S302L	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	293					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		AACGTCACGTCAGAAGAAATA	0.463																																					Ovarian(116;843 1620 18506 32459 34463)											0													123	116	118					9																	37495950		2203	4300	6503	SO:0001583	missense	64425			AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"RNA polymerase subunits"	17631	protein-coding gene	gene with protein product	"RNA polymerase I associated factor 53"		"polymerase (RNA) I associated factor 1"	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.719C>T	9.37:g.37495950C>T	ENSP00000367029:p.Ser240Leu		O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377798.4	37	CCDS6611.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513413	0.85389	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	T;T;T	0.23552	1.9;1.9;1.9	5.38	5.38	0.77491	.	0.419598	0.26824	N	0.022313	T	0.41696	0.1170	M	0.64997	1.995	0.42278	D	0.992081	P;D;P	0.54397	0.942;0.966;0.921	P;P;P	0.55749	0.783;0.61;0.52	T	0.05007	-1.0912	10	0.27785	T	0.31	-2.8018	16.6817	0.85294	0.0:1.0:0.0:0.0	.	170;302;240	E7EX70;Q9GZS1;Q9GZS1-2	.;RPA49_HUMAN;.	L	240;170;302	ENSP00000367029:S240L;ENSP00000399887:S170L;ENSP00000367023:S302L	ENSP00000367023:S302L	S	+	2	0	POLR1E	37485950	0.961000	0.32948	0.988000	0.46212	0.983000	0.72400	4.813000	0.62620	2.793000	0.96121	0.655000	0.94253	TCA		0.463	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490		T	37495950	C	T	37495950	3	4	615	1	0	0	0	0	1	0	0	0	12215	838	29	2	749	2	POLR1E	9	37495950	Missense_Mutation	SNP	C	TCGA-DV-5575-01A-01D-1534-10	34688099	37495950	103717481	18	33583											
OR1L4	254973	hgsc.bcm.edu	37	9	125486717	125486717	+	Missense_Mutation	SNP	G	G	A	rs76170289		TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr9:125486717G>A	ENST00000259466.1	+	1	449	c.449G>A	c.(448-450)tGc>tAc	p.C150Y		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TTGGGTTCTTGCAGCATCTCC	0.502																																																0													230	184	199					9																	125486717		2203	4300	6503	SO:0001583	missense	254973				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.449G>A	9.37:g.125486717G>A	ENSP00000259466:p.Cys150Tyr		Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	13.85	2.359846	0.41801	.	.	ENSG00000136939	ENST00000259466	T	0.35605	1.3	4.01	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.102403	0.44483	D	0.000453	T	0.26521	0.0648	N	0.01146	-0.985	0.37012	D	0.89577	D	0.89917	1.0	D	0.91635	0.999	T	0.43621	-0.9380	10	0.72032	D	0.01	-25.1842	7.3285	0.26569	0.0988:0.1739:0.7273:0.0	.	150	Q8NGR5	OR1L4_HUMAN	Y	150	ENSP00000259466:C150Y	ENSP00000259466:C150Y	C	+	2	0	OR1L4	124526538	0.027000	0.19231	1.000000	0.80357	0.767000	0.43475	0.314000	0.19432	2.079000	0.62486	0.298000	0.19748	TGC		0.502	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			A	125486717	G	A	125486717	3	1	615	1	0	0	0	0	1	0	0	0	10967	1319	46	2	451	2	OR1L4	9	125486717	Missense_Mutation	SNP	G	TCGA-DV-5575-01A-01D-1534-10	87990767	125486717	15726714	19	33584											
USP6NL	9712	hgsc.bcm.edu;ucsc.edu	37	10	11504703	11504703	+	Missense_Mutation	SNP	T	T	C			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr10:11504703T>C	ENST00000609104.1	-	15	2618	c.2224A>G	c.(2224-2226)Aca>Gca	p.T742A	USP6NL_ENST00000277575.5_Missense_Mutation_p.T759A|USP6NL_ENST00000379237.2_Missense_Mutation_p.T765A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	742					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTCTGTATGTATAACTAACT	0.458																																																0													126	129	128					10																	11504703		1953	4149	6102	SO:0001583	missense	9712			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2224A>G	10.37:g.11504703T>C	ENSP00000476462:p.Thr742Ala		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	T	2.598	-0.293546	0.05568	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04015	3.73;3.74	6.17	-0.772	0.10998	.	0.360626	0.27323	N	0.019896	T	0.03915	0.0110	L	0.54323	1.7	0.09310	N	1	B;B	0.22146	0.022;0.065	B;B	0.21708	0.016;0.036	T	0.39014	-0.9634	10	0.23891	T	0.37	.	1.7815	0.03032	0.1088:0.1879:0.2254:0.478	.	742;759	Q92738;Q92738-2	US6NL_HUMAN;.	A	742;759;742	ENSP00000277575:T759A;ENSP00000368539:T742A	ENSP00000277575:T759A	T	-	1	0	USP6NL	11544709	0.032000	0.19561	0.000000	0.03702	0.016000	0.09150	0.073000	0.14640	-0.059000	0.13154	0.533000	0.62120	ACA		0.458	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		C	11504703	T	C	11504703	3	2	615	1	0	0	0	0	1	0	0	0	17092	1638	57	3	266	3	USP6NL	10	11504703	Missense_Mutation	SNP	T	TCGA-DV-5575-01A-01D-1534-10		11504703	124030044	20	33585											
OR52J3	119679	hgsc.bcm.edu	37	11	5068656	5068656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr11:5068656C>T	ENST00000380370.1	+	1	901	c.901C>T	c.(901-903)Cga>Tga	p.R301*		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	301						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(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAACAGATTCGAGAACGAGT	0.383																																																0													65	61	62					11																	5068656		2201	4298	6499	SO:0001587	stop_gained	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.901C>T	11.37:g.5068656C>T	ENSP00000369728:p.Arg301*		Q6IFE4	Nonsense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391653	0.25118	.	.	ENSG00000205495	ENST00000380370	.	.	.	4.19	-6.69	0.01772	.	0.164651	0.27262	N	0.020168	.	.	.	.	.	.	0.31000	N	0.720457	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2663	0.31815	0.6404:0.1399:0.0:0.2197	.	.	.	.	X	301	.	ENSP00000369728:R301X	R	+	1	2	OR52J3	5025232	0.000000	0.05858	0.033000	0.17914	0.001000	0.01503	-3.100000	0.00604	-1.316000	0.02295	-0.989000	0.02550	CGA		0.383	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		T	5068656	C	T	5068656	4	4	615	1	0	0	0	0	0	1	0	0	11124	876	31	1	903	1	OR52J3	11	5068656	Nonsense_Mutation	SNP	C	TCGA-DV-5575-01A-01D-1534-10		5068656	129937860	21	33586											
HARBI1	283254	hgsc.bcm.edu;ucsc.edu	37	11	46625224	46625224	+	Silent	SNP	G	G	A			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr11:46625224G>A	ENST00000326737.3	-	3	1153	c.906C>T	c.(904-906)tcC>tcT	p.S302S		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	302						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CATGCTCCAGGGAGATGTTGT	0.557																																																0													87	79	82					11																	46625224		2201	4299	6500	SO:0001819	synonymous_variant	283254			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.906C>T	11.37:g.46625224G>A			D3DQP9	Silent	SNP	ENST00000326737.3	37	CCDS7920.1																																																																																				0.557	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		A	46625224	G	A	46625224	2	1	615	1	0	0	0	0	0	0	0	1	6960	1219	43	2		2	HARBI1	11	46625224	Silent	SNP	G	TCGA-DV-5575-01A-01D-1534-10	41556568	46625224	88381292	22	33587											
USP2	9099	hgsc.bcm.edu;ucsc.edu	37	11	119229755	119229755	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr11:119229755G>T	ENST00000260187.2	-	6	1445	c.1151C>A	c.(1150-1152)cCt>cAt	p.P384H	USP2_ENST00000525735.1_Missense_Mutation_p.P175H|USP2_ENST00000455332.2_Missense_Mutation_p.P141H	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	384	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GAGGTTCTCAGGGTTGGACTT	0.473																																																0													101	91	94					11																	119229755		2199	4295	6494	SO:0001583	missense	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1151C>A	11.37:g.119229755G>T	ENSP00000260187:p.Pro384His		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594301	0.28445	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.02890	4.12;4.12;4.12	5.92	4.99	0.66335	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.584559	0.18692	N	0.133836	T	0.04003	0.0112	L	0.48877	1.53	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.28933	-1.0028	10	0.51188	T	0.08	-0.4775	10.7447	0.46172	0.0:0.1428:0.709:0.1482	.	141;384;175	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	H	141;384;131;175	ENSP00000407842:P141H;ENSP00000260187:P384H;ENSP00000436952:P175H	ENSP00000260187:P384H	P	-	2	0	USP2	118734965	0.000000	0.05858	0.147000	0.22382	0.988000	0.76386	0.657000	0.24963	1.458000	0.47871	0.655000	0.94253	CCT		0.473	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		T	119229755	G	T	119229755	3	4	615	1	0	0	0	0	1	0	0	0	17056	1000	35	4	698	4	USP2	11	119229755	Missense_Mutation	SNP	G	TCGA-DV-5575-01A-01D-1534-10	72604531	119229755	15776761	23	33588											
VSIG10	54621	hgsc.bcm.edu;ucsc.edu	37	12	118511660	118511677	+	In_Frame_Del	DEL	TGATCACCTCGGGCTGGG	TGATCACCTCGGGCTGGG	-	rs76814182|rs569997181|rs142627542|rs540996271	byFrequency	TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	TGATCACCTCGGGCTGGG	TGATCACCTCGGGCTGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr12:118511660_118511677delTGATCACCTCGGGCTGGG	ENST00000359236.5	-	5	1322_1339	c.1046_1063delCCCAGCCCGAGGTGATCA	c.(1045-1065)acccagcccgaggtgatcatc>atc	p.TQPEVI349del		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	349	Ig-like C2-type 4.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CTAGGCTGGATGATCACCTCGGGCTGGGTAAGGTTCCT	0.583														26	0.00519169	0.0008	0.0072	5008	,	,		21969	0.0		0.0179	False		,,,				2504	0.002															0										16,3866		2,12,1927						4.4	0.9		dbSNP_134	58	206,7786		8,190,3798	no	coding	VSIG10	NM_019086.5		10,202,5725	A1A1,A1R,RR		2.5776,0.4122,1.8696				222,11652				SO:0001651	inframe_deletion	54621				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1046_1063delCCCAGCCCGAGGTGATCA	12.37:g.118511660_118511677delTGATCACCTCGGGCTGGG	ENSP00000352172:p.Thr349_Ile354del		Q9NWQ7	In_Frame_Del	DEL	ENST00000359236.5	37	CCDS44992.1																																																																																				0.583	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		-	118511677	TGATCACCTCGGGCTGGG	-	118511660	7	5	615	1	0	1	0	1	0	0	0	0	17228	1464	51	0	579	0	VSIG10	12	118511660	In_Frame_Del	DEL	TGATCACCTCGGGCTGGG	TCGA-DV-5575-01A-01D-1534-10		118511660	15340235	24	33589											
GPC6	10082	hgsc.bcm.edu;ucsc.edu	37	13	95034756	95034756	+	Missense_Mutation	SNP	C	C	G			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr13:95034756C>G	ENST00000377047.4	+	7	1856	c.1241C>G	c.(1240-1242)gCg>gGg	p.A414G		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	414					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGCGTGACAGCGGGCACGTCC	0.527																																																0													149	133	139					13																	95034756		2203	4300	6503	SO:0001583	missense	10082			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1241C>G	13.37:g.95034756C>G	ENSP00000366246:p.Ala414Gly		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954319	0.53293	.	.	ENSG00000183098	ENST00000377047	T	0.52526	0.66	5.74	5.74	0.90152	.	0.234527	0.42682	D	0.000678	T	0.50429	0.1615	M	0.61703	1.905	0.43195	D	0.99503	B	0.12630	0.006	B	0.24701	0.055	T	0.41070	-0.9529	10	0.36615	T	0.2	.	18.0853	0.89455	0.0:1.0:0.0:0.0	.	414	Q9Y625	GPC6_HUMAN	G	414	ENSP00000366246:A414G	ENSP00000366246:A414G	A	+	2	0	GPC6	93832757	1.000000	0.71417	0.843000	0.33291	0.550000	0.35303	6.307000	0.72815	2.708000	0.92522	0.650000	0.86243	GCG		0.527	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		G	95034756	C	G	95034756	3	3	615	1	0	0	0	0	1	0	0	0	6604	768	27	4	1267	4	GPC6	13	95034756	Missense_Mutation	SNP	C	TCGA-DV-5575-01A-01D-1534-10		95034756	20135122	25	33590											
DLGAP5	9787	hgsc.bcm.edu;ucsc.edu	37	14	55625420	55625420	+	Missense_Mutation	SNP	C	C	A			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr14:55625420C>A	ENST00000247191.2	-	14	1909	c.1693G>T	c.(1693-1695)Gat>Tat	p.D565Y	DLGAP5_ENST00000395425.2_Missense_Mutation_p.D565Y	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	565					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCAGCATCATCCTGTTTTGGT	0.393																																																0													105	97	100					14																	55625420		2202	4300	6502	SO:0001583	missense	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1693G>T	14.37:g.55625420C>A	ENSP00000247191:p.Asp565Tyr		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259919	0.39995	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.17054	2.3;2.3	4.97	4.08	0.47627	.	1.157320	0.06430	N	0.724005	T	0.43456	0.1248	M	0.76002	2.32	0.21220	N	0.999754	D;D	0.64830	0.994;0.994	D;D	0.67103	0.949;0.925	T	0.24225	-1.0166	10	0.62326	D	0.03	.	12.2323	0.54495	0.0:0.9145:0.0:0.0855	.	565;565	A8MTM6;Q15398	.;DLGP5_HUMAN	Y	565	ENSP00000378815:D565Y;ENSP00000247191:D565Y	ENSP00000247191:D565Y	D	-	1	0	DLGAP5	54695173	0.013000	0.17824	0.523000	0.27875	0.351000	0.29236	0.917000	0.28665	2.703000	0.92315	0.655000	0.94253	GAT		0.393	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		A	55625420	C	A	55625420	3	1	615	1	0	0	0	0	1	0	0	0	4565	855	30	4	966	4	DLGAP5	14	55625420	Missense_Mutation	SNP	C	TCGA-DV-5575-01A-01D-1534-10		55625420	51724120	26	33591											
PRKCH	5583	hgsc.bcm.edu;ucsc.edu	37	14	62014499	62014499	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr14:62014499delG	ENST00000332981.5	+	13	2185	c.1800delG	c.(1798-1800)ctgfs	p.L600fs	PRKCH_ENST00000555082.1_Frame_Shift_Del_p.L439fs|RP11-47I22.4_ENST00000556347.1_Frame_Shift_Del_p.*105fs|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.1_ENST00000556543.1_RNA	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGGGCAGCCTGACTCAGGGAG	0.507																																					Melanoma(135;863 1779 8064 14443 26348)											0													264	265	265					14																	62014499		2203	4300	6503	SO:0001589	frameshift_variant	5583			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1800delG	14.37:g.62014499delG	ENSP00000329127:p.Leu600fs		B4DJN5|Q16246|Q8NE03	Frame_Shift_Del	DEL	ENST00000332981.5	37	CCDS9752.1																																																																																				0.507	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		-	62014499	G	-	62014499	7	5	615	1	0	1	0	1	0	0	0	0	12518	1277	45	0	1850	0	PRKCH	14	62014499	Frame_Shift_Del	DEL	G	TCGA-DV-5575-01A-01D-1534-10	6389079	62014499	45335041	27	33592											
TMEM85	51234	hgsc.bcm.edu;ucsc.edu	37	15	34520009	34520009	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr15:34520009C>T	ENST00000267750.4	+	3	433	c.317C>T	c.(316-318)gCc>gTc	p.A106V	EMC4_ENST00000249209.4_Missense_Mutation_p.A106V|EMC4_ENST00000557879.1_Intron|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000559421.1_Intron	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	106					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TGTATGATGGCCTGGCGACCC	0.458																																																0													161	138	146					15																	34520009		2201	4298	6499	SO:0001583	missense	0			BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"transmembrane protein 85"	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.317C>T	15.37:g.34520009C>T	ENSP00000267750:p.Ala106Val		A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Missense_Mutation	SNP	ENST00000267750.4	37	CCDS10035.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100206	0.76983	.	.	ENSG00000128463	ENST00000267750;ENST00000249209	T;T	0.37915	1.17;1.17	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.24812	0.0602	N	0.02802	-0.49	0.80722	D	1	P;B	0.51351	0.944;0.005	P;B	0.48270	0.572;0.033	T	0.16158	-1.0412	10	0.16420	T	0.52	.	19.3845	0.94551	0.0:1.0:0.0:0.0	.	106;106	Q5J8M3-2;Q5J8M3	.;TMM85_HUMAN	V	106	ENSP00000267750:A106V;ENSP00000249209:A106V	ENSP00000249209:A106V	A	+	2	0	TMEM85	32307301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.169000	0.64984	2.876000	0.98609	0.655000	0.94253	GCC		0.458	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		T	34520009	C	T	34520009	3	4	615	1	0	0	0	0	1	0	0	0	16212	739	26	2	327	2	TMEM85	15	34520009	Missense_Mutation	SNP	C	TCGA-DV-5575-01A-01D-1534-10		34520009	68011383	28	33593											
IQGAP1	8826	hgsc.bcm.edu;ucsc.edu	37	15	91021009	91021010	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr15:91021009_91021010GC>TA	ENST00000268182.5	+	26	3341_3342	c.3217_3218GC>TA	c.(3217-3219)GCc>TAc	p.A1073Y	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A501Y	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1073	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACAGATCTTGGCCCCAGTCGTG	0.431																																																0																																										SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	Exception_encountered	15.37:g.91021009_91021010delinsTA	ENSP00000268182:p.Ala1073Tyr		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1																																																																																				0.431	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		TA	91021010	GC	TA	91021009	3	4	615	1	0	0	0	0	1	0	0	0	7816	1203	42	4	3319	4	IQGAP1	15	91021009	Missense_Mutation	DNP	GC	TCGA-DV-5575-01A-01D-1534-10	56501000	91021009	11510383	29	33594											
RAB11FIP3	9727	hgsc.bcm.edu;ucsc.edu	37	16	546818	546826	+	Splice_Site	DEL	GCACAGTCC	GCACAGTCC	-	rs201535149|rs267604564		TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	GCACAGTCC	GCACAGTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr16:546818_546826delGCACAGTCC	ENST00000262305.4	+	6	1653_1656	c.1265_1268delGCACAGTCC	c.(1264-1269)agcaca>aa	p.ST422del	RAB11FIP3_ENST00000457159.1_Splice_Site_p.ST467del|RAB11FIP3_ENST00000450428.1_Splice_Site_p.ST126del	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	422					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				TTTGTTTTCTGCACAGTCCGACAAAGCGG	0.459																																					Melanoma(160;2366 2595 4474 8099)											0																																										SO:0001630	splice_region_variant	9727			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1266-1GCACAGTCC>-	16.37:g.546818_546826delGCACAGTCC			B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Frame_Shift_Del	DEL	ENST00000262305.4	37	CCDS32351.1																																																																																				0.459	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700	In_Frame_Del	-	546826	GCACAGTCC	-	546818	8	5	615	1	0	1	0	1	0	0	1	0	12901	1334	46	0		0	RAB11FIP3	16	546818	Splice_Site	DEL	GCACAGTCC	TCGA-DV-5575-01A-01D-1534-10		546818	89807935	30	33595											
KCTD19	146212	hgsc.bcm.edu;ucsc.edu	37	16	67327544	67327545	+	In_Frame_Ins	INS	-	-	GCTCCA	rs372339467|rs567420800|rs143567769	byFrequency	TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr16:67327544_67327545insGCTCCA	ENST00000304372.5	-	12	2175_2176	c.2120_2121insTGGAGC	c.(2119-2121)gcg>gcTGGAGCg	p.707_707A>AGA		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	707					protein homooligomerization (GO:0051260)			p.A707A(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTTGTCTTTCGCTCCAGCTCC	0.599														4	0.000798722	0.0	0.0014	5008	,	,		16372	0.0		0.003	False		,,,				2504	0.0															1	Substitution - coding silent(1)	skin(1)								1,3773		0,1,1886						0.1	0			93	21,7907		1,19,3944	no	coding	KCTD19	NM_001100915.1		1,20,5830	A1A1,A1R,RR		0.2649,0.0265,0.188				22,11680				SO:0001652	inframe_insertion	146212			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2115_2120dupTGGAGC	16.37:g.67327545_67327550dupGCTCCA	ENSP00000305702:p.GlyAla707dup		B4DZ49|Q8N804	In_Frame_Ins	INS	ENST00000304372.5	37	CCDS42179.1																																																																																				0.599	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		GCTCCA	67327545	-	GCTCCA	67327544	7	5	615	1	0	1	1	0	0	0	0	0	8108	871	31	0	679	0	KCTD19	16	67327544	In_Frame_Ins	INS	-	TCGA-DV-5575-01A-01D-1534-10	66780726	67327544	23027209	31	33596											
RAI1	10743	hgsc.bcm.edu	37	17	17700038	17700040	+	In_Frame_Del	DEL	AGG	AGG	-	rs149716029|rs398124417	byFrequency	TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr17:17700038_17700040delAGG	ENST00000353383.1	+	3	4245_4247	c.3776_3778delAGG	c.(3775-3780)aaggag>aag	p.E1261del	RAI1_ENST00000261641.6_In_Frame_Del_p.E1261del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1261					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGAGATGGGAAGGAGGAGAGGCC	0.631														4	0.000798722	0.0	0.0	5008	,	,		17056	0.0		0.004	False		,,,				2504	0.0															0										15,4249		3,9,2120						3.4	0.5		dbSNP_134	39	72,8182		10,52,4065	no	coding	RAI1	NM_030665.3		13,61,6185	A1A1,A1R,RR		0.8723,0.3518,0.695				87,12431				SO:0001651	inframe_deletion	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3776_3778delAGG	17.37:g.17700041_17700043delAGG	ENSP00000323074:p.Glu1261del		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	ENST00000353383.1	37	CCDS11188.1																																																																																				0.631	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		-	17700040	AGG	-	17700038	7	5	615	1	0	1	0	1	0	0	0	0	13013	72	3	0	3778	0	RAI1	17	17700038	In_Frame_Del	DEL	AGG	TCGA-DV-5575-01A-01D-1534-10		17700038	63495172	32	33597											
PPAP2C	8612	hgsc.bcm.edu;ucsc.edu	37	19	282291	282291	+	Missense_Mutation	SNP	A	A	G			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr19:282291A>G	ENST00000269812.3	-	5	609	c.560T>C	c.(559-561)cTc>cCc	p.L187P	PPAP2C_ENST00000327790.3_Missense_Mutation_p.L208P|PPAP2C_ENST00000434325.2_Missense_Mutation_p.L131P	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	187					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCCAACAGAGTCGTGCCTG	0.612																																																0													82	68	73					19																	282291		2203	4300	6503	SO:0001583	missense	8612			AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.560T>C	19.37:g.282291A>G	ENSP00000269812:p.Leu187Pro		A6NLV0|E9PAY8	Missense_Mutation	SNP	ENST00000269812.3	37	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	.	17.88	3.498205	0.64186	.	.	ENSG00000141934	ENST00000269812;ENST00000327790;ENST00000434325	T;T;T	0.41065	1.05;1.01;1.01	4.8	4.8	0.61643	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.081401	0.50627	U	0.000105	T	0.70988	0.3287	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.992;0.988	T	0.79047	-0.1963	10	0.87932	D	0	-18.2105	13.2401	0.59992	1.0:0.0:0.0:0.0	.	187;208	O43688;O43688-2	LPP2_HUMAN;.	P	187;208;131	ENSP00000269812:L187P;ENSP00000329697:L208P;ENSP00000388565:L131P	ENSP00000269812:L187P	L	-	2	0	PPAP2C	233291	1.000000	0.71417	0.038000	0.18304	0.673000	0.39480	8.774000	0.91767	1.818000	0.53035	0.369000	0.22263	CTC		0.612	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			G	282291	A	G	282291	3	3	615	1	0	0	0	0	1	0	0	0	12294	304	11	3	314	3	PPAP2C	19	282291	Missense_Mutation	SNP	A	TCGA-DV-5575-01A-01D-1534-10		282291	58846692	33	33598											
EMR2	30817	hgsc.bcm.edu;ucsc.edu	37	19	14877799	14877799	+	Missense_Mutation	SNP	G	G	C	rs12976472	byFrequency	TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr19:14877799G>C	ENST00000315576.3	-	6	929	c.478C>G	c.(478-480)Ctc>Gtc	p.L160V	EMR2_ENST00000392967.2_Missense_Mutation_p.L160V|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.L160V|EMR2_ENST00000596991.2_Missense_Mutation_p.L160V|EMR2_ENST00000594294.1_Missense_Mutation_p.L160V|EMR2_ENST00000392965.3_Missense_Mutation_p.L160V|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L160V|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000595839.1_Intron	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	160	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCTGTGCAGAGCTTCGGGTCC	0.617																																																0								G	VAL/LEU,VAL/LEU,,,VAL/LEU,VAL/LEU,	1741,2609		740,261,1174	36	42	40		478,478,,,478,478,	-1.3	0	19	dbSNP_121	40	2362,6160		964,434,2863	yes	missense,missense,intron,intron,missense,missense,intron	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	32,32,,,32,32,	1704,695,4037	CC,CG,GG		27.7165,40.023,31.8754	benign,benign,,,benign,benign,	160/824,160/775,,,160/813,160/764,	14877799	4103,8769	2175	4261	6436	SO:0001583	missense	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.478C>G	19.37:g.14877799G>C	ENSP00000319883:p.Leu160Val		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	839	0.3841575091575092	243	0.49390243902439024	152	0.4198895027624309	169	0.29545454545454547	275	0.3627968337730871	G	0.563	-0.844360	0.02671	0.40023	0.277165	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	T;T;T;T;T	0.78364	-0.86;-0.99;-1.17;-1.15;-1.04	3.06	-1.28	0.09318	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	P;B;B;B	0.42757	0.789;0.008;0.097;0.019	B;B;B;B	0.40940	0.344;0.019;0.046;0.015	T	0.30297	-0.9983	8	0.09590	T	0.72	.	4.8562	0.13561	0.0:0.2107:0.3614:0.4279	rs12976472	160;160;160;160	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	V	160	ENSP00000319883:L160V;ENSP00000376694:L160V;ENSP00000263380:L160V;ENSP00000376692:L160V;ENSP00000376689:L160V	ENSP00000319883:L160V	L	-	1	0	EMR2	14738799	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.286000	0.08399	0.069000	0.16605	0.508000	0.49915	CTC		0.617	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			C	14877799	G	C	14877799	3	2	615	1	0	0	0	0	1	0	0	0	5107	971	34	4	2057	4	EMR2	19	14877799	Missense_Mutation	SNP	G	TCGA-DV-5575-01A-01D-1534-10	14595508	14877799	44251184	34	33599											
ZNF831	128611	hgsc.bcm.edu	37	20	57769147	57769147	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chr20:57769147G>A	ENST00000371030.2	+	1	3073	c.3073G>A	c.(3073-3075)Gac>Aac	p.D1025N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1025							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTTGGGGGGGGACAAGGGGGA	0.682																																																0													20	23	22					20																	57769147		2003	4185	6188	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3073G>A	20.37:g.57769147G>A	ENSP00000360069:p.Asp1025Asn		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027571	0.35797	.	.	ENSG00000124203	ENST00000371030	T	0.06933	3.24	4.49	3.52	0.40303	.	0.911342	0.09308	N	0.819957	T	0.06872	0.0175	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.26770	0.073	T	0.38757	-0.9646	10	0.38643	T	0.18	-4.3528	11.5227	0.50560	0.0:0.3468:0.6532:0.0	.	1025	Q5JPB2	ZN831_HUMAN	N	1025	ENSP00000360069:D1025N	ENSP00000360069:D1025N	D	+	1	0	ZNF831	57202542	0.140000	0.22579	0.008000	0.14137	0.017000	0.09413	1.887000	0.39698	0.987000	0.38709	0.411000	0.27672	GAC		0.682	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		A	57769147	G	A	57769147	3	1	615	1	0	0	0	0	1	0	0	0	18190	1174	41	2	3075	2	ZNF831	20	57769147	Missense_Mutation	SNP	G	TCGA-DV-5575-01A-01D-1534-10		57769147	5256373	35	33600											
TCEAL6	158931	hgsc.bcm.edu	37	X	101395780	101395781	+	Frame_Shift_Ins	INS	-	-	G	rs111588852|rs11408120|rs377261254|rs200987681		TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chrX:101395780_101395781insG	ENST00000372774.3	-	3	772_773	c.523_524insC	c.(523-525)caafs	p.Q175fs	TCEAL6_ENST00000372773.1_Frame_Shift_Ins_p.Q175fs	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GTTGTCCCCTTGGGCGAATGGA	0.5													GGGG|GGG|GGGG|deletion	3775	1.0	0.7587	0.755	3775	,	,		8751	0.7579		0.7614	False		,,,				2504	0.7342															0										3451,87		1435,63,518,10,4						-5.6	0		dbSNP_130	12	6076,139		2190,82,1614,14,29	no	frameshift	TCEAL6	NM_001006938.2		3625,145,2132,24,33	A1A1,A1R,A1,RR,R		2.2365,2.459,2.3172				9527,226				SO:0001589	frameshift_variant	158931			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.524dupC	X.37:g.101395783_101395783dupG	ENSP00000361860:p.Gln175fs		Q5H9J8	Frame_Shift_Ins	INS	ENST00000372774.3	37	CCDS43978.1																																																																																				0.5	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		G	101395781	-	G	101395780	7	5	615	1	0	1	1	0	0	0	0	0	15680	1812	63	0	31	0	TCEAL6	23	101395780	Frame_Shift_Ins	INS	-	TCGA-DV-5575-01A-01D-1534-10		101395780	53874780	36	33601											
GPR50	9248	hgsc.bcm.edu;ucsc.edu	37	X	150349558	150349569	+	In_Frame_Del	DEL	CACCACTGGCCA	CACCACTGGCCA	-	rs377556761|rs199797606|rs68058591|rs200787393		TCGA-DV-5575-01A-01D-1534-10	TCGA-DV-5575-10A-01D-1535-10	CACCACTGGCCA	CACCACTGGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb2d0a1a-b684-484a-86a4-bd40c8ac7ce8	bf9f5144-b35f-493d-b2b0-e4ebbe29fe88	g.chrX:150349558_150349569delCACCACTGGCCA	ENST00000218316.3	+	2	1572_1583	c.1503_1514delCACCACTGGCCA	c.(1501-1515)cccaccactggccac>ccc	p.TTGH502del	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8647286, ECO:0000269|Ref.2}.		cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTAAACCCACCACTGGCCACATCAAGCCA	0.608																																																1	Deletion - In frame(1)	ovary(1)								1488,2015		315,617,241,554,290						2.6	0		dbSNP_130	100	2487,3842		404,1011,668,899,1033	no	coding	GPR50	NM_004224.3		719,1628,909,1453,1323	A1A1,A1R,A1,RR,R		39.2953,42.4779,40.4292				3975,5857				SO:0001651	inframe_deletion	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1503_1514delCACCACTGGCCA	X.37:g.150349558_150349569delCACCACTGGCCA	ENSP00000218316:p.Thr502_His505del		Q0VGG3|Q3ZAR0	In_Frame_Del	DEL	ENST00000218316.3	37	CCDS44012.1																																																																																				0.608	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		-	150349569	CACCACTGGCCA	-	150349558	7	5	615	1	0	1	0	1	0	0	0	0	6699	581	21	0	1509	0	GPR50	23	150349558	In_Frame_Del	DEL	CACCACTGGCCA	TCGA-DV-5575-01A-01D-1534-10	48953778	150349558	4921002	37	33602											
ICMT	23463	hgsc.bcm.edu;ucsc.edu	37	1	6295024	6295024	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr1:6295024C>T	ENST00000343813.5	-	2	234	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	LINC00337_ENST00000441724.1_RNA|LINC00337_ENST00000429480.2_RNA|ICMT_ENST00000362035.3_Missense_Mutation_p.R69Q	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	69					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAAACAAGCTCGGATGGCTAT	0.512																																																0													82	83	83					1																	6295024		2203	4300	6503	SO:0001583	missense	23463			AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"protein-S-isoprenylcysteine O-methyltransferase"	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.206G>A	1.37:g.6295024C>T	ENSP00000343552:p.Arg69Gln		Q6FHT0	Missense_Mutation	SNP	ENST00000343813.5	37	CCDS61.1	.	.	.	.	.	.	.	.	.	.	C	36	5.698244	0.96802	.	.	ENSG00000116237	ENST00000343813;ENST00000362035	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.76170	2.325	0.80722	D	1	D	0.65815	0.995	P	0.46320	0.512	T	0.66830	-0.5824	9	0.39692	T	0.17	.	15.8873	0.79261	0.0:1.0:0.0:0.0	.	69	O60725	ICMT_HUMAN	Q	69	.	ENSP00000343552:R69Q	R	-	2	0	ICMT	6217611	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.110000	0.77069	2.338000	0.79540	0.563000	0.77884	CGA		0.512	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		T	6295024	C	T	6295024	3	4	616	1	0	0	0	0	1	0	0	0	7487	884	31	1	664	1	ICMT	1	6295024	Missense_Mutation	SNP	C	TCGA-DV-5576-01A-01D-1534-10		6295024	242955597	1	33603											
NTRK1	4914	hgsc.bcm.edu;ucsc.edu	37	1	156845424	156845424	+	Missense_Mutation	SNP	C	C	A			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr1:156845424C>A	ENST00000524377.1	+	12	1508	c.1467C>A	c.(1465-1467)caC>caA	p.H489Q	NTRK1_ENST00000392302.2_Missense_Mutation_p.H453Q|NTRK1_ENST00000368196.3_Missense_Mutation_p.H483Q|NTRK1_ENST00000358660.3_Missense_Mutation_p.H483Q	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	489	Interaction with SQSTM1. {ECO:0000250}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TCCAAGGCCACATCATCGAGA	0.582			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0													99	81	87					1																	156845424		2203	4300	6503	SO:0001583	missense	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1467C>A	1.37:g.156845424C>A	ENSP00000431418:p.His489Gln		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417524	0.25552	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.75260	-0.91;-0.9;-0.92;-0.91	4.64	3.73	0.42828	.	0.116103	0.38720	N	0.001583	T	0.41442	0.1159	L	0.29908	0.895	0.31269	N	0.69194	B;B;B;B	0.10296	0.001;0.0;0.001;0.003	B;B;B;B	0.08055	0.001;0.002;0.001;0.003	T	0.16867	-1.0388	10	0.21014	T	0.42	.	11.3417	0.49537	0.0:0.9102:0.0:0.0898	.	483;483;489;453	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	Q	453;483;489;483	ENSP00000376120:H453Q;ENSP00000357179:H483Q;ENSP00000431418:H489Q;ENSP00000351486:H483Q	ENSP00000351486:H483Q	H	+	3	2	NTRK1	155112048	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.861000	0.56002	1.167000	0.42706	0.462000	0.41574	CAC		0.582	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		A	156845424	C	A	156845424	3	1	616	1	0	0	0	0	1	0	0	0	10708	477	17	4	1643	4	NTRK1	1	156845424	Missense_Mutation	SNP	C	TCGA-DV-5576-01A-01D-1534-10	150550400	156845424	92405197	2	33604											
CACNA1E	777	hgsc.bcm.edu;ucsc.edu	37	1	181705481	181705481	+	Silent	SNP	G	G	A	rs569675496		TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr1:181705481G>A	ENST00000367573.2	+	22	3333	c.3333G>A	c.(3331-3333)gtG>gtA	p.V1111V	CACNA1E_ENST00000367570.1_Silent_p.V1111V|CACNA1E_ENST00000526775.1_Silent_p.V1092V|CACNA1E_ENST00000358338.5_Silent_p.V1043V|CACNA1E_ENST00000357570.5_Silent_p.V1062V|CACNA1E_ENST00000367567.4_Silent_p.V718V|CACNA1E_ENST00000360108.3_Silent_p.V1092V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1111					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						aggaggaggtggagaagaaga	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20999	0.0		0.0	False		,,,				2504	0.0															0													92	116	108					1																	181705481		2158	4255	6413	SO:0001819	synonymous_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3333G>A	1.37:g.181705481G>A			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		A	181705481	G	A	181705481	2	1	616	1	0	0	0	0	0	0	0	1	2544	1335	47	2		2	CACNA1E	1	181705481	Silent	SNP	G	TCGA-DV-5576-01A-01D-1534-10	24860057	181705481	67545140	3	33605											
CDCA7	83879	hgsc.bcm.edu;ucsc.edu	37	2	174224187	174224187	+	Intron	SNP	G	G	A			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr2:174224187G>A	ENST00000347703.3	+	2	291				CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000410101.3_Missense_Mutation_p.G74S|CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000306721.3_Missense_Mutation_p.G118S	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7						apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ATCATTTTGCGGTTTCTCAGA	0.388																																																0													98	96	97					2																	174224187		2203	4300	6503	SO:0001627	intron_variant	83879			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.147+622G>A	2.37:g.174224187G>A			B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441964	0.63067	.	.	ENSG00000144354	ENST00000306721;ENST00000410101	T;T	0.51817	0.89;0.69	5.87	4.99	0.66335	.	0.198263	0.42294	D	0.000728	T	0.56615	0.1997	M	0.69358	2.11	0.80722	D	1	D;D	0.69078	0.992;0.997	P;P	0.59171	0.518;0.853	T	0.58086	-0.7698	10	0.06757	T	0.87	-11.6028	12.8376	0.57782	0.0759:0.0:0.9241:0.0	.	74;118	B4DV66;Q9BWT1-2	.;.	S	118;74	ENSP00000306968:G118S;ENSP00000386656:G74S	ENSP00000306968:G118S	G	+	1	0	CDCA7	173932433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.122000	0.57910	1.484000	0.48361	0.650000	0.86243	GGT		0.388	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		A	174224187	G	A	174224187	1	1	616	0	1	0	0	0	0	0	0	0	3092	1116	39	1		1	CDCA7	2	174224187	Intron	SNP	G	TCGA-DV-5576-01A-01D-1534-10		174224187	68975186	4	33606											
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179422465	179422465	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr2:179422465C>T	ENST00000591111.1	-	278	82917	c.82693G>A	c.(82693-82695)Gaa>Aaa	p.E27565K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20266K|TTN_ENST00000460472.2_Missense_Mutation_p.E20141K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20333K|TTN_ENST00000589042.1_Missense_Mutation_p.E29206K|TTN_ENST00000342992.6_Missense_Mutation_p.E26638K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27565	Fibronectin type-III 100. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTATTCTTCTCCTGTGGTC	0.418																																																0													338	332	334					2																	179422465		1951	4144	6095	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82693G>A	2.37:g.179422465C>T	ENSP00000465570:p.Glu27565Lys		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.13	3.311042	0.60414	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38878	0.1057	N	0.04355	-0.22	0.51233	D	0.999919	P;P;P;P	0.35226	0.491;0.491;0.491;0.491	B;B;B;B	0.37780	0.258;0.258;0.258;0.258	T	0.49437	-0.8940	9	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	20141;20266;20333;27565	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	26638;20141;20333;20266;20138	ENSP00000343764:E26638K;ENSP00000434586:E20141K;ENSP00000340554:E20333K;ENSP00000352154:E20266K	ENSP00000340554:E20333K	E	-	1	0	TTN	179130711	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.121000	0.57904	2.826000	0.97356	0.655000	0.94253	GAA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179422465	C	T	179422465	3	4	616	1	0	0	0	0	1	0	0	0	16740	922	32	2	20503	2	TTN	2	179422465	Missense_Mutation	SNP	C	TCGA-DV-5576-01A-01D-1534-10	5198278	179422465	63776908	5	33607											
BARD1	580	hgsc.bcm.edu;ucsc.edu	37	2	215645503	215645523	+	In_Frame_Del	DEL	TGGTGAAGAACATTCAGGCAA	TGGTGAAGAACATTCAGGCAA	-	rs201292946|rs200168806|rs141351035|rs28997575	byFrequency	TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	TGGTGAAGAACATTCAGGCAA	TGGTGAAGAACATTCAGGCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr2:215645503_215645523delTGGTGAAGAACATTCAGGCAA	ENST00000260947.4	-	4	1209_1229	c.1075_1095delTTGCCTGAATGTTCTTCACCA	c.(1075-1095)ttgcctgaatgttcttcaccadel	p.LPECSSP359del	BARD1_ENST00000471787.1_5'Flank|BARD1_ENST00000449967.2_In_Frame_Del_p.LPECSSP215del	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	359					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCATGAAGGTGGTGAAGAACATTCAGGCAATGGTATATTT	0.421									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					224	0.0447284	0.0416	0.0346	5008	,	,		25266	0.0466		0.0149	False		,,,				2504	0.0849															0																																										SO:0001651	inframe_deletion	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1075_1095delTTGCCTGAATGTTCTTCACCA	2.37:g.215645503_215645523delTGGTGAAGAACATTCAGGCAA	ENSP00000260947:p.Leu359_Pro365del		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	In_Frame_Del	DEL	ENST00000260947.4	37	CCDS2397.1																																																																																				0.421	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		-	215645523	TGGTGAAGAACATTCAGGCAA	-	215645503	7	5	616	1	0	1	0	1	0	0	0	0	1312	1683	59	0	1270	0	BARD1	2	215645503	In_Frame_Del	DEL	TGGTGAAGAACATTCAGGCAA	TCGA-DV-5576-01A-01D-1534-10	36223038	215645503	27553870	6	33608											
LNP1	348801	hgsc.bcm.edu	37	3	100170598	100170598	+	Silent	SNP	C	C	T	rs78633312|rs386663873	byFrequency	TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr3:100170598C>T	ENST00000383693.3	+	3	1472	c.192C>T	c.(190-192)tgC>tgT	p.C64C	LNP1_ENST00000489752.1_Silent_p.C77C	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	64										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						CATCTGACTGCCATCCTAGAA	0.443																																																0													78	71	73					3																	100170598		1873	4103	5976	SO:0001819	synonymous_variant	348801				CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.192C>T	3.37:g.100170598C>T			B7ZLT3	Silent	SNP	ENST00000383693.3	37	CCDS43120.1																																																																																				0.443	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			T	100170598	C	T	100170598	2	4	616	1	0	0	0	0	0	0	0	1	8865	747	26	2		2	LNP1	3	100170598	Silent	SNP	C	TCGA-DV-5576-01A-01D-1534-10		100170598	97851832	7	33609											
HHLA2	11148	hgsc.bcm.edu	37	3	108081191	108081195	+	Frame_Shift_Del	DEL	CCGAG	CCGAG	-	rs267599526	byFrequency	TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	CCGAG	CCGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr3:108081191_108081195delCCGAG	ENST00000357759.5	+	7	1420_1424	c.1006_1010delCCGAG	c.(1006-1011)ccgagcfs	p.PS336fs	HHLA2_ENST00000489514.2_Frame_Shift_Del_p.PS336fs|HHLA2_ENST00000467562.1_Frame_Shift_Del_p.PS272fs|HHLA2_ENST00000491820.1_Frame_Shift_Del_p.PS336fs|HHLA2_ENST00000467761.1_Frame_Shift_Del_p.PS336fs	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	336					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTTTTTAGAACCGAGCCAAGAAACA	0.4																																																0										13,3495		1,11,1742						0.2	0.1			65	8,7802		4,0,3901	no	frameshift	HHLA2	NM_007072.2		5,11,5643	A1A1,A1R,RR		0.1024,0.3706,0.1855				21,11297				SO:0001589	frameshift_variant	11148			AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.1006_1010delCCGAG	3.37:g.108081191_108081195delCCGAG	ENSP00000350402:p.Pro336fs		B4DKN2|D3DN60|Q9NWQ6	Frame_Shift_Del	DEL	ENST00000357759.5	37	CCDS46883.1																																																																																				0.4	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		-	108081195	CCGAG	-	108081191	7	5	616	1	0	1	0	1	0	0	0	0	7097	507	18	0	1024	0	HHLA2	3	108081191	Frame_Shift_Del	DEL	CCGAG	TCGA-DV-5576-01A-01D-1534-10	7910593	108081191	89941239	8	33610											
HIST1H2BM	8342	hgsc.bcm.edu;ucsc.edu	37	6	27782814	27782832	+	Start_Codon_Del	DEL	TTTCCACCATGCCTGAACC	TTTCCACCATGCCTGAACC	-	rs143108953|rs149507584|rs200137511|rs374803189	byFrequency	TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	TTTCCACCATGCCTGAACC	TTTCCACCATGCCTGAACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr6:27782814_27782832delTTTCCACCATGCCTGAACC	ENST00000359465.4	+	0	0_11				HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm						chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E3Q(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						TTTATTTTGTTTTCCACCATGCCTGAACCAGTCAAATCT	0.429														12	0.00239617	0.0083	0.0014	5008	,	,		23920	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)																																								SO:0001582	initiator_codon_variant	8342			Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"Histones / Replication-dependent"	4750	protein-coding gene	gene with protein product		602802	"H2B histone family, member E", "histone 1, H2bm"	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489		6.37:g.27782814_27782832delTTTCCACCATGCCTGAACC			Q6NWQ3	Frame_Shift_Del	DEL	ENST00000359465.4	37	CCDS4629.1																																																																																				0.429	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		-	27782832	TTTCCACCATGCCTGAACC	-	27782814	7	5	616	1	0	1	0	1	0	0	0	0	7154	1856	64	0		0	HIST1H2BM	6	27782814	Start_Codon_Del	DEL	TTTCCACCATGCCTGAACC	TCGA-DV-5576-01A-01D-1534-10		27782814	143332253	9	33611											
DPCR1	135656	hgsc.bcm.edu	37	6	30917574	30917574	+	Missense_Mutation	SNP	A	A	G			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr6:30917574A>G	ENST00000462446.1	+	2	1361	c.1333A>G	c.(1333-1335)Aga>Gga	p.R445G	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	336						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TACAGAAAATAGAGAAAGGAC	0.512																																																0													178	220	207					6																	30917574		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1333A>G	6.37:g.30917574A>G	ENSP00000417182:p.Arg445Gly		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	-	2.003	-0.429049	0.04701	.	.	ENSG00000168631	ENST00000462446	T	0.35421	1.31	1.56	-2.11	0.07187	.	.	.	.	.	T	0.01835	0.0058	N	0.00289	-1.7	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.41805	-0.9488	9	0.22109	T	0.4	.	4.2407	0.10647	0.3781:0.1779:0.444:0.0	.	445	E9PEI6	.	G	445	ENSP00000417182:R445G	ENSP00000417182:R445G	R	+	1	2	DPCR1	31025553	0.000000	0.05858	0.000000	0.03702	0.504000	0.33889	-1.010000	0.03656	-1.070000	0.03149	0.000000	0.15137	AGA		0.512	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		G	30917574	A	G	30917574	3	3	616	1	0	0	0	0	1	0	0	0	4714	412	15	3	1339	3	DPCR1	6	30917574	Missense_Mutation	SNP	A	TCGA-DV-5576-01A-01D-1534-10	3134760	30917574	140197493	10	33612											
GPRC6A	222545	hgsc.bcm.edu	37	6	117113761	117113762	+	Frame_Shift_Ins	INS	-	-	GG	rs386705086|rs371464745|rs550458778	byFrequency	TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr6:117113761_117113762insGG	ENST00000310357.3	-	6	2345_2346	c.2324_2325insCC	c.(2323-2325)tatfs	p.Y775fs	GPRC6A_ENST00000368549.3_Frame_Shift_Ins_p.Y704fs|GPRC6A_ENST00000530250.1_Frame_Shift_Ins_p.Y600fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	775					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGTAATTCTCATATTTGCCTTT	0.411														798	0.159345	0.4009	0.1657	5008	,	,		24205	0.006		0.0815	False		,,,				2504	0.0665															0																																										SO:0001589	frameshift_variant	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2324_2325insCC	6.37:g.117113761_117113762insGG	ENSP00000309493:p.Tyr775fs		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Frame_Shift_Ins	INS	ENST00000310357.3	37	CCDS5112.1																																																																																				0.411	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			GG	117113762	-	GG	117113761	7	5	616	1	0	1	1	0	0	0	0	0	6730	224	8	0	459	0	GPRC6A	6	117113761	Frame_Shift_Ins	INS	-	TCGA-DV-5576-01A-01D-1534-10	86196187	117113761	54001306	11	33613											
SAMD9L	219285	hgsc.bcm.edu	37	7	92761054	92761054	+	Missense_Mutation	SNP	G	G	C	rs4729075		TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr7:92761054G>C	ENST00000318238.4	-	5	5447	c.4231C>G	c.(4231-4233)Cga>Gga	p.R1411G	SAMD9L_ENST00000411955.1_Missense_Mutation_p.R1411G|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R1411G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1411					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.R1411*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGACCTCTCGGAGTTGTTTT	0.398																																																1	Substitution - Nonsense(1)	large_intestine(1)											151	152	151					7																	92761054		2203	4300	6503	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4231C>G	7.37:g.92761054G>C	ENSP00000326247:p.Arg1411Gly		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	5.774	0.327260	0.10900	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.23348	1.91;1.91;1.91	5.22	2.25	0.28309	.	0.369870	0.24063	N	0.041899	T	0.34308	0.0893	L	0.53249	1.67	0.25083	N	0.990916	D	0.55385	0.971	P	0.50590	0.645	T	0.23655	-1.0182	10	0.62326	D	0.03	-5.8818	14.3967	0.67015	0.0:0.0:0.3555:0.6445	.	1411	Q8IVG5	SAM9L_HUMAN	G	1411;1411;1411;233	ENSP00000326247:R1411G;ENSP00000405760:R1411G;ENSP00000408796:R1411G	ENSP00000326247:R1411G	R	-	1	2	SAMD9L	92598990	0.000000	0.05858	0.999000	0.59377	0.095000	0.18619	-0.027000	0.12371	0.271000	0.22005	0.467000	0.42956	CGA		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		C	92761054	G	C	92761054	3	2	616	1	0	0	0	0	1	0	0	0	13833	1124	39	4	527	4	SAMD9L	7	92761054	Missense_Mutation	SNP	G	TCGA-DV-5576-01A-01D-1534-10		92761054	66377609	12	33614											
AGK	55750	hgsc.bcm.edu;ucsc.edu	37	7	141336815	141336815	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr7:141336815A>T	ENST00000355413.4	+	11	984	c.724A>T	c.(724-726)Aag>Tag	p.K242*	AGK_ENST00000535825.1_Nonsense_Mutation_p.K239*|AGK_ENST00000473247.1_Nonsense_Mutation_p.K214*	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	242					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CAGCACTCTTAAGGTAAATGT	0.318																																																0													116	108	111					7																	141336815		2203	4300	6503	SO:0001587	stop_gained	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.724A>T	7.37:g.141336815A>T	ENSP00000347581:p.Lys242*		Q75KN1|Q96GC3|Q9NP48	Nonsense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	A	36	5.721853	0.96839	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	.	.	.	5.04	2.7	0.31948	.	0.169545	0.49305	D	0.000144	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3105	0.43706	0.5934:0.4066:0.0:0.0	.	.	.	.	X	242;214;239	.	ENSP00000347581:K242X	K	+	1	0	AGK	140983284	0.994000	0.37717	1.000000	0.80357	0.957000	0.61999	1.229000	0.32600	0.363000	0.24346	0.528000	0.53228	AAG		0.318	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		T	141336815	A	T	141336815	4	4	616	1	0	0	0	0	0	1	0	0	383	363	13	5	762	5	AGK	7	141336815	Nonsense_Mutation	SNP	A	TCGA-DV-5576-01A-01D-1534-10	48575761	141336815	17801848	13	33615											
IFNK	56832	hgsc.bcm.edu	37	9	27524364	27524365	+	Frame_Shift_Ins	INS	-	-	TGTT	rs375249919|rs376708678|rs144060127	byFrequency	TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr9:27524364_27524365insTGTT	ENST00000276943.2	+	1	53_54	c.30_31insTGTT	c.(31-33)tgtfs	p.-12fs	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa						adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		TGATTCAAAAGTGTTTGTGGCT	0.396														165	0.0329473	0.0567	0.0187	5008	,	,		18599	0.003		0.0298	False		,,,				2504	0.045															0									,	180,4084		2,176,1954					,	0.1	0		dbSNP_134	73	255,7999		4,247,3876	no	intron,frameshift	IFNK,MOB3B	NM_024761.4,NM_020124.2	,	6,423,5830	A1A1,A1R,RR		3.0894,4.2214,3.475	,	,		435,12083				SO:0001589	frameshift_variant	56832			AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"Interferons"	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.31_34dupTGTT	9.37:g.27524365_27524368dupTGTT	ENSP00000276943:p.Leu12fs		Q5T166	Frame_Shift_Ins	INS	ENST00000276943.2	37	CCDS6521.1																																																																																				0.396	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051968.1	NM_020124		TGTT	27524365	-	TGTT	27524364	7	5	616	1	0	1	1	0	0	0	0	0	7553	1020	36	0	32	0	IFNK	9	27524364	Frame_Shift_Ins	INS	-	TCGA-DV-5576-01A-01D-1534-10		27524364	113689067	14	33616											
OR4C15	81309	hgsc.bcm.edu	37	11	55322611	55322635	+	Frame_Shift_Del	DEL	TCTCTGAGAACACACAGTTCTGAAG	TCTCTGAGAACACACAGTTCTGAAG	-	rs374784954|rs564856673|rs144837445|rs72140406|rs149441744|rs368978918	byFrequency	TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	TCTCTGAGAACACACAGTTCTGAAG	TCTCTGAGAACACACAGTTCTGAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr11:55322611_55322635delTCTCTGAGAACACACAGTTCTGAAG	ENST00000314644.2	+	1	829_853	c.829_853delTCTCTGAGAACACACAGTTCTGAAG	c.(829-855)tctctgagaacacacagttctgaagggfs	p.SLRTHSSEG277fs		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L278P(1)|p.S283Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CATCTTGCTCTCTCTGAGAACACACAGTTCTGAAGGGCGCTGGAA	0.444										HNSCC(20;0.049)				87	0.0173722	0.0628	0.0058	5008	,	,		22046	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	large_intestine(1)|prostate(1)																																								SO:0001589	frameshift_variant	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.829_853delTCTCTGAGAACACACAGTTCTGAAG	11.37:g.55322611_55322635delTCTCTGAGAACACACAGTTCTGAAG	ENSP00000324958:p.Ser277fs		Q6IFE2	Frame_Shift_Del	DEL	ENST00000314644.2	37	CCDS31501.1																																																																																				0.444	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		-	55322635	TCTCTGAGAACACACAGTTCTGAAG	-	55322611	7	5	616	1	0	1	0	1	0	0	0	0	11050	1551	54	0	831	0	OR4C15	11	55322611	Frame_Shift_Del	DEL	TCTCTGAGAACACACAGTTCTGAAG	TCGA-DV-5576-01A-01D-1534-10		55322611	79683905	15	33617											
SLC3A2	6520	hgsc.bcm.edu;ucsc.edu	37	11	62650410	62650410	+	Missense_Mutation	SNP	A	A	G			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr11:62650410A>G	ENST00000377890.2	+	6	1100	c.932A>G	c.(931-933)aAc>aGc	p.N311S	SLC3A2_ENST00000535296.1_Missense_Mutation_p.N280S|SLC3A2_ENST00000377891.2_Missense_Mutation_p.N312S|SLC3A2_ENST00000377892.1_Missense_Mutation_p.N342S|SLC3A2_ENST00000377889.2_Missense_Mutation_p.N249S|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.N210S	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	311					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTTACTCCCAACTACCGGGGT	0.488																																																0													156	126	136					11																	62650410		2201	4298	6499	SO:0001583	missense	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.932A>G	11.37:g.62650410A>G	ENSP00000367122:p.Asn311Ser		Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293194	0.60086	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606	D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	5.05	5.05	0.67936	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.995	D;P;D;P;D	0.83275	0.943;0.895;0.996;0.898;0.909	D	0.97891	1.0297	10	0.35671	T	0.21	-17.3975	12.7763	0.57451	1.0:0.0:0.0:0.0	.	249;280;311;210;342	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	S	342;312;311;312;249;280;210;192	ENSP00000367124:N342S;ENSP00000367123:N312S;ENSP00000367122:N311S;ENSP00000367121:N249S;ENSP00000444236:N280S;ENSP00000340815:N210S	ENSP00000340815:N210S	N	+	2	0	SLC3A2	62406986	1.000000	0.71417	0.997000	0.53966	0.042000	0.13812	7.348000	0.79366	1.915000	0.55452	0.459000	0.35465	AAC		0.488	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		G	62650410	A	G	62650410	3	3	616	1	0	0	0	0	1	0	0	0	14633	43	2	3	1054	3	SLC3A2	11	62650410	Missense_Mutation	SNP	A	TCGA-DV-5576-01A-01D-1534-10	7327799	62650410	72356106	16	33618											
ADAMTS17	170691	hgsc.bcm.edu;ucsc.edu	37	15	100649280	100649281	+	In_Frame_Ins	INS	-	-	CTCCTT	rs533437573	byFrequency	TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr15:100649280_100649281insCTCCTT	ENST00000268070.4	-	14	2034_2035	c.1929_1930insAAGGAG	c.(1927-1932)gagtcc>gagAAGGAGtcc	p.642_643insEK		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	642	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGCAGTGGGGACTCCTTCCCGA	0.624														6	0.00119808	0.0045	0.0	5008	,	,		21128	0.0		0.0	False		,,,				2504	0.0															0										20,4244		0,20,2112						4	1			53	2,8252		0,2,4125	no	coding	ADAMTS17	NM_139057.2		0,22,6237	A1A1,A1R,RR		0.0242,0.469,0.1757				22,12496				SO:0001652	inframe_insertion	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1924_1929dupAAGGAG	15.37:g.100649281_100649286dupCTCCTT	ENSP00000268070:p.Lys642_Glu643insGluLys		Q2I7G4|Q6ZN75	In_Frame_Ins	INS	ENST00000268070.4	37	CCDS10383.1																																																																																				0.624	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		CTCCTT	100649281	-	CTCCTT	100649280	7	5	616	1	0	1	1	0	0	0	0	0	262	275	10	0	1393	0	ADAMTS17	15	100649280	In_Frame_Ins	INS	-	TCGA-DV-5576-01A-01D-1534-10		100649280	1882112	17	33619											
TOP2A	7153	hgsc.bcm.edu;ucsc.edu	37	17	38557157	38557157	+	Missense_Mutation	SNP	C	C	T	rs192926120		TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr17:38557157C>T	ENST00000423485.1	-	21	2767	c.2609G>A	c.(2608-2610)cGt>cAt	p.R870H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	870					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TACAATTTCACGCACATCAAA	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19230	0.0		0.0	False		,,,				2504	0.0															0								C	HIS/ARG	0,3854		0,0,1927	288	275	279		2609	5.2	1	17		279	1,8271		0,1,4135	no	missense	TOP2A	NM_001067.3	29	0,1,6062	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	870/1532	38557157	1,12125	1927	4136	6063	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2609G>A	17.37:g.38557157C>T	ENSP00000411532:p.Arg870His		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	29.8	5.038065	0.93630	0.0	1.21E-4	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.26373	1.74	5.21	5.21	0.72293	DNA topoisomerase, type IIA, subunit A/C-terminal (2);DNA topoisomerase, type IIA, subunit A/ C-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.86740	2.835	0.80722	D	1	P	0.51449	0.945	P	0.54889	0.763	T	0.59762	-0.7393	10	0.56958	D	0.05	.	19.1085	0.93307	0.0:1.0:0.0:0.0	.	870	P11388	TOP2A_HUMAN	H	870;950;893;906	ENSP00000411532:R870H	ENSP00000269577:R950H	R	-	2	0	TOP2A	35810683	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.750000	0.85110	2.586000	0.87340	0.467000	0.42956	CGT		0.428	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			T	38557157	C	T	38557157	3	4	616	1	0	0	0	0	1	0	0	0	16370	536	19	1	2046	1	TOP2A	17	38557157	Missense_Mutation	SNP	C	TCGA-DV-5576-01A-01D-1534-10		38557157	42638053	18	33620											
KRTAP4-1	85285	hgsc.bcm.edu;ucsc.edu	37	17	39341039	39341039	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr17:39341039G>A	ENST00000398472.1	-	1	555	c.68C>T	c.(67-69)aCc>aTc	p.T23I				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	23	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCGGCAGCAGGTCTCTTGGCA	0.592																																																0													27	31	30					17																	39341039		2194	4297	6491	SO:0001583	missense	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"Keratin associated proteins"	18907	protein-coding gene	gene with protein product			"keratin associated protein 4-10"	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.68C>T	17.37:g.39341039G>A	ENSP00000381489:p.Thr23Ile		A8MWS7|Q3SYF2	Missense_Mutation	SNP	ENST00000398472.1	37		.	.	.	.	.	.	.	.	.	.	G	10.50	1.367282	0.24771	.	.	ENSG00000198443	ENST00000398472;ENST00000334190	T	0.01422	4.91	3.67	0.133	0.14766	.	.	.	.	.	T	0.01558	0.0050	.	.	.	0.09310	N	0.99999	P	0.40731	0.728	B	0.40444	0.329	T	0.49476	-0.8936	8	0.59425	D	0.04	.	5.9257	0.19110	0.0:0.4376:0.2954:0.267	.	23	Q9BYQ7	KRA41_HUMAN	I	23	ENSP00000381489:T23I	ENSP00000335483:T23I	T	-	2	0	KRTAP4-1	36594565	0.973000	0.33851	0.198000	0.23420	0.091000	0.18340	2.690000	0.47001	0.208000	0.20626	0.655000	0.94253	ACC		0.592	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		A	39341039	G	A	39341039	3	1	616	1	0	0	0	0	1	0	0	0	8550	1261	44	2	323	2	KRTAP4-1	17	39341039	Missense_Mutation	SNP	G	TCGA-DV-5576-01A-01D-1534-10	783882	39341039	41854171	19	33621											
ACSF2	80221	hgsc.bcm.edu;ucsc.edu	37	17	48551039	48551039	+	Missense_Mutation	SNP	A	A	G			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr17:48551039A>G	ENST00000300441.4	+	13	1593	c.1489A>G	c.(1489-1491)Atg>Gtg	p.M497V	ACSF2_ENST00000427954.2_Missense_Mutation_p.M522V|ACSF2_ENST00000502667.1_Missense_Mutation_p.M484V|ACSF2_ENST00000541920.1_Missense_Mutation_p.M337V|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000504392.1_Missense_Mutation_p.M454V	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	497					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGTCGCCACAATGAATGAGCA	0.512																																																0													90	83	85					17																	48551039		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1489A>G	17.37:g.48551039A>G	ENSP00000300441:p.Met497Val		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.471105	0.26423	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.94	3.79	0.43588	AMP-dependent synthetase/ligase (1);	0.324703	0.37809	N	0.001921	T	0.34019	0.0883	L	0.42529	1.33	0.38233	D	0.941096	B;B;B;B	0.20368	0.024;0.044;0.024;0.024	B;B;B;B	0.27887	0.084;0.084;0.084;0.084	T	0.36841	-0.9731	10	0.62326	D	0.03	-12.956	6.9474	0.24526	0.6788:0.1949:0.0:0.1263	.	484;522;454;497	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	V	497;337;454;522;484	ENSP00000300441:M497V;ENSP00000437987:M337V;ENSP00000425964:M454V;ENSP00000401831:M522V;ENSP00000421884:M484V	ENSP00000300441:M497V	M	+	1	0	ACSF2	45906038	0.285000	0.24296	0.245000	0.24217	0.049000	0.14656	0.919000	0.28692	1.856000	0.53863	0.402000	0.26972	ATG		0.512	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		G	48551039	A	G	48551039	3	3	616	1	0	0	0	0	1	0	0	0	175	101	4	3	1539	3	ACSF2	17	48551039	Missense_Mutation	SNP	A	TCGA-DV-5576-01A-01D-1534-10	9210000	48551039	32644171	20	33622											
TM6SF2	53345	hgsc.bcm.edu	37	19	19381023	19381023	+	Silent	SNP	G	G	A			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr19:19381023G>A	ENST00000389363.4	-	4	432	c.360C>T	c.(358-360)caC>caT	p.H120H	TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	120						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			AGAGGAGGTAGTGAACAGTGC	0.632																																																0													50	54	53					19																	19381023		2084	4220	6304	SO:0001819	synonymous_variant	53345			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.360C>T	19.37:g.19381023G>A			Q0IJ64	Silent	SNP	ENST00000389363.4	37	CCDS42528.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505660	0.26949	.	.	ENSG00000213996	ENST00000431465	.	.	.	4.74	2.57	0.30868	.	.	.	.	.	T	0.62865	0.2463	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64232	-0.6456	5	0.87932	D	0	-25.3371	7.2682	0.26242	0.2849:0.0:0.7151:0.0	.	.	.	.	I	143	.	ENSP00000391180:T143I	T	-	2	0	TM6SF2	19242023	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	3.621000	0.54210	1.005000	0.39183	0.505000	0.49811	ACT		0.632	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		A	19381023	G	A	19381023	2	1	616	1	0	0	0	0	0	0	0	1	15978	1020	36	2		2	TM6SF2	19	19381023	Silent	SNP	G	TCGA-DV-5576-01A-01D-1534-10		19381023	39747960	21	33623											
ZNF208	7757	hgsc.bcm.edu	37	19	22156286	22156286	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr19:22156286C>T	ENST00000397126.4	-	4	1698	c.1550G>A	c.(1549-1551)aGa>aAa	p.R517K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	517					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)				AGTATGAATTCTCTTATGTTC	0.388																																																0													14	14	14					19																	22156286		692	1589	2281	SO:0001583	missense	7757			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.1550G>A	19.37:g.22156286C>T	ENSP00000380315:p.Arg517Lys			Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841009	0.16891	.	.	ENSG00000160321	ENST00000397126	T	0.18338	2.22	2.98	-5.96	0.02234	.	.	.	.	.	T	0.10809	0.0264	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34601	-0.9822	6	0.34782	T	0.22	.	5.0173	0.14343	0.5497:0.2714:0.0:0.179	.	.	.	.	K	517	ENSP00000380315:R517K	ENSP00000380315:R517K	R	-	2	0	ZNF208	21948126	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.497000	0.06428	-1.149000	0.02843	-3.138000	0.00060	AGA		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		T	22156286	C	T	22156286	3	4	616	1	0	0	0	0	1	0	0	0	17771	913	32	2	2296	2	ZNF208	19	22156286	Missense_Mutation	SNP	C	TCGA-DV-5576-01A-01D-1534-10	2775263	22156286	36972697	22	33624											
ZNF676	163223	hgsc.bcm.edu	37	19	22363631	22363631	+	Silent	SNP	G	G	A	rs75683199	byFrequency	TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr19:22363631G>A	ENST00000397121.2	-	3	1205	c.888C>T	c.(886-888)ctC>ctT	p.L296L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGTTCCATGAGCTTTGAGG	0.438																																																0													96	100	98					19																	22363631		2141	4270	6411	SO:0001819	synonymous_variant	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.888C>T	19.37:g.22363631G>A			A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		A	22363631	G	A	22363631	2	1	616	1	0	0	0	0	0	0	0	1	18088	1277	45	2		2	ZNF676	19	22363631	Silent	SNP	G	TCGA-DV-5576-01A-01D-1534-10	207345	22363631	36765352	23	33625	252	2									
ZNF676	163223	hgsc.bcm.edu	37	19	22363634	22363634	+	Missense_Mutation	SNP	C	C	A	rs76456473	byFrequency	TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr19:22363634C>A	ENST00000397121.2	-	3	1202	c.885G>T	c.(883-885)aaG>aaT	p.K295N		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTCCATGAGCTTTGAGGACG	0.433																																																0													98	102	100					19																	22363634		2149	4273	6422	SO:0001583	missense	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.885G>T	19.37:g.22363634C>A	ENSP00000380310:p.Lys295Asn		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.874663	0.00003	.	.	ENSG00000196109	ENST00000397121	T	0.07908	3.15	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	N	0.02775	-0.495	0.09310	N	1	P	0.40731	0.728	B	0.37833	0.259	T	0.20940	-1.0260	9	0.08381	T	0.77	.	0.8725	0.01217	0.1932:0.2181:0.3753:0.2135	.	295	Q8N7Q3	ZN676_HUMAN	N	295	ENSP00000380310:K295N	ENSP00000380310:K295N	K	-	3	2	ZNF676	22155474	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.885000	0.01620	-1.157000	0.02815	-1.151000	0.01829	AAG		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		A	22363634	C	A	22363634	3	1	616	1	0	0	0	0	1	0	0	0	18088	796	28	4	885	4	ZNF676	19	22363634	Missense_Mutation	SNP	C	TCGA-DV-5576-01A-01D-1534-10	3	22363634	36765349	24	33626	252	2									
CEACAM3	1084	hgsc.bcm.edu;ucsc.edu	37	19	42301763	42301763	+	Missense_Mutation	SNP	A	A	C	rs61737014	byFrequency	TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr19:42301763A>C	ENST00000357396.3	+	2	548	c.307A>C	c.(307-309)Acc>Ccc	p.T103P	CEACAM3_ENST00000344550.4_Missense_Mutation_p.T103P|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.T103P	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	103	Ig-like V-type.					integral component of membrane (GO:0016021)		p.R98_S106delRETIYTNAS(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GACAATATACACCAATGCATC	0.458													N|||	303	0.0605032	0.2126	0.0274	5008	,	,		21051	0.001		0.002	False		,,,				2504	0.0															1	Deletion - In frame(1)	stomach(1)						C	PRO/THR	274,4132		73,128,2002	230	251	244		307	-0.4	0	19	dbSNP_129	244	5,8595		0,5,4295	no	missense	CEACAM3	NM_001815.2	38	73,133,6297	CC,CA,AA		0.0581,6.2188,2.1452	benign	103/253	42301763	279,12727	2203	4300	6503	SO:0001583	missense	1084			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.307A>C	19.37:g.42301763A>C	ENSP00000349971:p.Thr103Pro		G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	CCDS12586.2	78	0.03571428571428571	63	0.12804878048780488	13	0.03591160220994475	1	0.0017482517482517483	1	0.0013192612137203166	C	0.007	-1.955855	0.00470	0.062188	5.81E-4	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.01464	4.86;4.86;4.86	3.44	-0.421	0.12332	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	N	0.00076	-2.245	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	8	0.02654	T	1	.	4.92	0.13865	0.2929:0.5004:0.0:0.2066	rs61737014	103;103	G5E978;P40198	.;CEAM3_HUMAN	P	103	ENSP00000349971:T103P;ENSP00000221999:T103P;ENSP00000341725:T103P	ENSP00000221999:T103P	T	+	1	0	CEACAM3	46993603	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-0.938000	0.03938	-0.569000	0.06030	-2.519000	0.00185	ACC		0.458	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		C	42301763	A	C	42301763	3	2	616	1	0	0	0	0	1	0	0	0	3195	159	6	5	313	5	CEACAM3	19	42301763	Missense_Mutation	SNP	A	TCGA-DV-5576-01A-01D-1534-10	19938129	42301763	16827220	25	33627											
STK35	140901	hgsc.bcm.edu;ucsc.edu	37	20	2097952	2097952	+	Silent	SNP	T	T	A			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chr20:2097952T>A	ENST00000381482.3	+	3	1804	c.1533T>A	c.(1531-1533)gcT>gcA	p.A511A	STK35_ENST00000246032.3_Silent_p.A378A|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	511	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						ATATGTTAGCTGCTAACCCAC	0.483																																																0													85	80	82					20																	2097952		2203	4300	6503	SO:0001819	synonymous_variant	140901			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"CLP-36 interacting kinase"	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1533T>A	20.37:g.2097952T>A			B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Silent	SNP	ENST00000381482.3	37	CCDS13024.2																																																																																				0.483	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		A	2097952	T	A	2097952	2	1	616	1	0	0	0	0	0	0	0	1	15306	1567	55	5		5	STK35	20	2097952	Silent	SNP	T	TCGA-DV-5576-01A-01D-1534-10		2097952	60927568	26	33628											
RPGR	6103	hgsc.bcm.edu	37	X	38145700	38145700	+	Intron	SNP	T	T	C			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chrX:38145700T>C	ENST00000339363.3	-	14	2688				RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.E851G|RPGR_ENST00000342811.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tccttcctcctcttccccctc	0.597													t|||	8	0.00211921	0.0038	0.0014	3775	,	,		4975	0.0		0.001	False		,,,				2504	0.001															0													34	21	26					X																	38145700		1743	3348	5091	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+646A>G	X.37:g.38145700T>C			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	t	7.071	0.568249	0.13560	.	.	ENSG00000156313	ENST00000378505	T	0.02446	4.29	1.54	1.54	0.23209	.	5.599050	0.00797	U	0.001382	T	0.01592	0.0051	N	0.04508	-0.205	0.80722	D	1	P	0.45531	0.86	B	0.31390	0.129	T	0.52366	-0.8585	10	0.27082	T	0.32	.	8.3427	0.32254	0.0:0.0:0.0:1.0	.	851	E9PE28	.	G	851	ENSP00000367766:E851G	ENSP00000367766:E851G	E	-	2	0	RPGR	38030644	0.000000	0.05858	0.045000	0.18777	0.000000	0.00434	0.029000	0.13666	0.671000	0.31185	0.000000	0.15137	GAG		0.597	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		C	38145700	T	C	38145700	1	2	616	0	1	0	0	0	0	0	0	0	13554	1551	54	3		3	RPGR	23	38145700	Intron	SNP	T	TCGA-DV-5576-01A-01D-1534-10		38145700	117124860	27	33629	253	2									
RPGR	6103	hgsc.bcm.edu	37	X	38145704	38145704	+	Intron	SNP	C	C	T			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chrX:38145704C>T	ENST00000339363.3	-	14	2688				RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.E850K|RPGR_ENST00000342811.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tcctcctcttccccctcccct	0.607																																																0			GRCh37	CD077431	orf15	D							36	22	27					X																	38145704		1739	3343	5082	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+642G>A	X.37:g.38145704C>T			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	c	5.746	0.322013	0.10900	.	.	ENSG00000156313	ENST00000378505	T	0.02446	4.29	1.54	0.206	0.15208	.	2.503780	0.02039	U	0.049173	T	0.02193	0.0068	L	0.43152	1.355	0.09310	N	1	P	0.45531	0.86	B	0.28991	0.097	T	0.47886	-0.9082	10	0.06236	T	0.91	.	6.5691	0.22529	0.4445:0.5555:0.0:0.0	.	850	E9PE28	.	K	850	ENSP00000367766:E850K	ENSP00000367766:E850K	E	-	1	0	RPGR	38030648	0.000000	0.05858	0.073000	0.20177	0.000000	0.00434	0.538000	0.23160	0.816000	0.34421	-0.000000	0.15137	GAA		0.607	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		T	38145704	C	T	38145704	1	4	616	0	1	0	0	0	0	0	0	0	13554	864	30	2		2	RPGR	23	38145704	Intron	SNP	C	TCGA-DV-5576-01A-01D-1534-10	4	38145704	117124856	28	33630	253	2									
ATRX	546	hgsc.bcm.edu;ucsc.edu	37	X	76938884	76938884	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chrX:76938884G>T	ENST00000373344.5	-	9	2078	c.1864C>A	c.(1864-1866)Ccc>Acc	p.P622T	ATRX_ENST00000395603.3_Missense_Mutation_p.P584T|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	622					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTAACTTGGGGTTCAGACCA	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											181	202	195					X																	76938884		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1864C>A	X.37:g.76938884G>T	ENSP00000362441:p.Pro622Thr		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.104152	0.00356	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91894	-2.93;-2.91	5.22	-2.59	0.06209	.	1.109790	0.06910	N	0.807471	D	0.84183	0.5416	L	0.43152	1.355	0.09310	N	0.999998	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.65212	-0.6223	10	0.22706	T	0.39	2.7578	0.2769	0.00239	0.2832:0.216:0.2775:0.2232	.	622;554;584;622	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	T	622;584;549	ENSP00000362441:P622T;ENSP00000378967:P584T	ENSP00000362441:P622T	P	-	1	0	ATRX	76825540	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-0.410000	0.07151	-0.835000	0.04234	-0.318000	0.08688	CCC		0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		T	76938884	G	T	76938884	3	4	616	1	0	0	0	0	1	0	0	0	1208	1232	43	4	5722	4	ATRX	23	76938884	Missense_Mutation	SNP	G	TCGA-DV-5576-01A-01D-1534-10	38793180	76938884	78331676	29	33631											
GPR50	9248	hgsc.bcm.edu;ucsc.edu	37	X	150349558	150349569	+	In_Frame_Del	DEL	CACCACTGGCCA	CACCACTGGCCA	-	rs377556761|rs199797606|rs68058591|rs200787393		TCGA-DV-5576-01A-01D-1534-10	TCGA-DV-5576-10A-01D-1535-10	CACCACTGGCCA	CACCACTGGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc677d8e-ec39-4038-a86c-8290dacd377b	827b7591-b763-4d3f-beb3-c8c53b03bc21	g.chrX:150349558_150349569delCACCACTGGCCA	ENST00000218316.3	+	2	1572_1583	c.1503_1514delCACCACTGGCCA	c.(1501-1515)cccaccactggccac>ccc	p.TTGH502del	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8647286, ECO:0000269|Ref.2}.		cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTAAACCCACCACTGGCCACATCAAGCCA	0.608																																																1	Deletion - In frame(1)	ovary(1)								1488,2015		315,617,241,554,290						2.6	0		dbSNP_130	100	2487,3842		404,1011,668,899,1033	no	coding	GPR50	NM_004224.3		719,1628,909,1453,1323	A1A1,A1R,A1,RR,R		39.2953,42.4779,40.4292				3975,5857				SO:0001651	inframe_deletion	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1503_1514delCACCACTGGCCA	X.37:g.150349558_150349569delCACCACTGGCCA	ENSP00000218316:p.Thr502_His505del		Q0VGG3|Q3ZAR0	In_Frame_Del	DEL	ENST00000218316.3	37	CCDS44012.1																																																																																				0.608	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		-	150349569	CACCACTGGCCA	-	150349558	7	5	616	1	0	1	0	1	0	0	0	0	6699	581	21	0	1509	0	GPR50	23	150349558	In_Frame_Del	DEL	CACCACTGGCCA	TCGA-DV-5576-01A-01D-1534-10	73410674	150349558	4921002	30	33632											
FGGY	55277	hgsc.bcm.edu	37	1	60133071	60133091	+	Splice_Site	DEL	TACTGGTAAGTCTGGGAAAGA	TACTGGTAAGTCTGGGAAAGA	-	rs115318188	byFrequency	TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	TACTGGTAAGTCTGGGAAAGA	TACTGGTAAGTCTGGGAAAGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr1:60133071_60133091delTACTGGTAAGTCTGGGAAAGA	ENST00000303721.7	+	13	1587_1591	c.1413_1417delTACTGGTAAGTCTGGGAAAGA	c.(1411-1419)attactggt>atgt	p.471_473ITG>M	FGGY_ENST00000371218.4_Splice_Site_p.495_497ITG>M|FGGY_ENST00000371210.1_Splice_Site_p.172_174ITG>M|FGGY_ENST00000371212.1_Splice_Site_p.383_385ITG>M	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	471					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.G361C(1)|p.G473C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					ATGCGGACATTACTGGTAAGTCTGGGAAAGAGGAGAGAAGG	0.466																																																2	Substitution - Missense(2)	lung(2)																																								SO:0001630	splice_region_variant	55277				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1417+1TACTGGTAAGTCTGGGAAAGA>-	chr1.hg19:g.60133071_60133091delTACTGGTAAGTCTGGGAAAGA			B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	In_Frame_Del	DEL	ENST00000303721.7	hg19	CCDS611.2																																																																																				0.466	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	In_Frame_Del	-	60133091	TACTGGTAAGTCTGGGAAAGA	-	60133071	8	5	617	1	0	1	0	1	0	0	1	0	5873	1742	61	0	1535	0	FGGY	1	60133071	Splice_Site	DEL	TACTGGTAAGTCTGGGAAAGA	TCGA-DW-5560-01A-01D-1589-08		60133071	189117550	1	33633											
FRRS1	391059	hgsc.bcm.edu	37	1	100214268	100214268	+	Silent	SNP	A	A	G			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr1:100214268A>G	ENST00000414213.1	-	3	658	c.57T>C	c.(55-57)taT>taC	p.Y19Y	FRRS1_ENST00000287474.5_Silent_p.Y19Y			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	19	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AATTAGCCACATAACTAATGT	0.378																																																0													154	132	139					1																	100214268		2203	4300	6503	SO:0001819	synonymous_variant	391059			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.57T>C	chr1.hg19:g.100214268A>G			A6NLN7	Silent	SNP	ENST00000414213.1	hg19																																																																																					0.378	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		G	100214268	A	G	100214268	2	3	617	1	0	0	0	0	0	0	0	1	6062	224	8	3		3	FRRS1	1	100214268	Silent	SNP	A	TCGA-DW-5560-01A-01D-1589-08	40081197	100214268	149036353	2	33634											
ALX3	257	hgsc.bcm.edu	37	1	110604111	110604111	+	Silent	SNP	G	G	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr1:110604111G>T	ENST00000369792.4	-	3	756	c.669C>A	c.(667-669)ccC>ccA	p.P223P	RP4-773N10.4_ENST00000596959.1_RNA|RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	223					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGCCGTGAAGGGGTTCCGCC	0.622																																																0													79	78	78					1																	110604111		2203	4300	6503	SO:0001819	synonymous_variant	257			AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"Homeoboxes / PRD class"	449	protein-coding gene	gene with protein product		606014	"aristaless-like homeobox 3", "frontonasal dysplasia"	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.669C>A	chr1.hg19:g.110604111G>T			O95075|Q5T8M4	Silent	SNP	ENST00000369792.4	hg19	CCDS819.1																																																																																				0.622	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		T	110604111	G	T	110604111	2	4	617	1	0	0	0	0	0	0	0	1	557	987	35	4		4	ALX3	1	110604111	Silent	SNP	G	TCGA-DW-5560-01A-01D-1589-08	10389843	110604111	138646510	3	33635											
DSTYK	25778	hgsc.bcm.edu	37	1	205132867	205132867	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr1:205132867C>G	ENST00000367162.3	-	4	1571	c.1541G>C	c.(1540-1542)aGt>aCt	p.S514T	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.S514T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	514					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GAGATAATTACTGGTGATGTG	0.433																																																0													80	72	75					1																	205132867		2203	4300	6503	SO:0001583	missense	25778			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1541G>C	chr1.hg19:g.205132867C>G	ENSP00000356130:p.Ser514Thr		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	hg19	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245935	0.80024	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	T;T	0.81163	-1.41;-1.46	5.8	5.8	0.92144	.	0.090598	0.85682	D	0.000000	D	0.84047	0.5386	L	0.35723	1.085	0.80722	D	1	D;D	0.63880	0.993;0.977	P;P	0.58454	0.839;0.751	D	0.83764	0.0216	10	0.49607	T	0.09	-13.2589	19.6644	0.95887	0.0:1.0:0.0:0.0	.	514;514	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	T	514	ENSP00000356129:S514T;ENSP00000356130:S514T	ENSP00000356129:S514T	S	-	2	0	DSTYK	203399490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.108000	0.71522	2.758000	0.94735	0.563000	0.77884	AGT		0.433	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		G	205132867	C	G	205132867	3	3	617	1	0	0	0	0	1	0	0	0	4787	565	20	4	1288	4	DSTYK	1	205132867	Missense_Mutation	SNP	C	TCGA-DW-5560-01A-01D-1589-08	94528756	205132867	44117754	4	33636											
BIN1	274	hgsc.bcm.edu	37	2	127828371	127828371	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr2:127828371T>C	ENST00000316724.5	-	3	598	c.187A>G	c.(187-189)Aag>Gag	p.K63E	BIN1_ENST00000393041.3_Missense_Mutation_p.K63E|BIN1_ENST00000351659.3_Missense_Mutation_p.K63E|BIN1_ENST00000348750.4_Missense_Mutation_p.K63E|BIN1_ENST00000357970.3_Missense_Mutation_p.K63E|BIN1_ENST00000352848.3_Missense_Mutation_p.K63E|BIN1_ENST00000346226.3_Missense_Mutation_p.K63E|BIN1_ENST00000409400.1_Missense_Mutation_p.K63E|BIN1_ENST00000393040.3_Missense_Mutation_p.K63E|BIN1_ENST00000259238.4_Missense_Mutation_p.K63E|BIN1_ENST00000376113.2_Missense_Mutation_p.K63E	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	63	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with BIN2.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CGGAGATCCTTCTGCAGCCGG	0.647																																																0													45	44	44					2																	127828371		2203	4300	6503	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.187A>G	chr2.hg19:g.127828371T>C	ENSP00000316779:p.Lys63Glu		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	hg19	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331702	0.81690	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.49	3.3	0.37823	BAR (3);	0.101360	0.64402	D	0.000002	T	0.71558	0.3354	M	0.66939	2.045	0.54753	D	0.999988	P;D;P;P;P;P;P;P;B;P;P;B;P	0.60575	0.947;0.988;0.457;0.942;0.606;0.952;0.938;0.884;0.432;0.837;0.941;0.047;0.929	P;D;B;P;B;P;P;B;B;B;B;B;P	0.65010	0.879;0.931;0.286;0.528;0.286;0.611;0.804;0.346;0.177;0.287;0.357;0.017;0.794	T	0.73697	-0.3901	10	0.87932	D	0	-23.223	8.0196	0.30402	0.0:0.0991:0.0:0.9009	.	63;39;63;63;63;63;63;63;63;63;63;63;63	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	E	63	ENSP00000365281:K63E;ENSP00000350654:K63E;ENSP00000376760:K63E;ENSP00000259237:K63E;ENSP00000259238:K63E;ENSP00000315411:K63E;ENSP00000376761:K63E;ENSP00000315388:K63E;ENSP00000315284:K63E;ENSP00000316779:K63E;ENSP00000386797:K63E	ENSP00000259238:K63E	K	-	1	0	BIN1	127544841	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.533000	0.60615	1.884000	0.54569	0.459000	0.35465	AAG		0.647	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		C	127828371	T	C	127828371	3	2	617	1	0	0	0	0	1	0	0	0	1432	1792	62	3	1711	3	BIN1	2	127828371	Missense_Mutation	SNP	T	TCGA-DW-5560-01A-01D-1589-08		127828371	115371002	5	33637											
NEB	4703	hgsc.bcm.edu	37	2	152512859	152512859	+	Silent	SNP	C	C	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr2:152512859C>T	ENST00000172853.10	-	49	6450	c.6303G>A	c.(6301-6303)gaG>gaA	p.E2101E	NEB_ENST00000427231.2_Silent_p.E2101E|NEB_ENST00000409198.1_Silent_p.E2101E|NEB_ENST00000604864.1_Silent_p.E2101E|NEB_ENST00000603639.1_Silent_p.E2101E|NEB_ENST00000397345.3_Silent_p.E2101E			P20929	NEBU_HUMAN	nebulin	2101					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCTTGTACTCCCGATCAG	0.483																																																0													239	236	237					2																	152512859		2046	4199	6245	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6303G>A	chr2.hg19:g.152512859C>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	hg19																																																																																					0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152512859	C	T	152512859	2	4	617	1	0	0	0	0	0	0	0	1	10304	564	20	2		2	NEB	2	152512859	Silent	SNP	C	TCGA-DW-5560-01A-01D-1589-08	24684488	152512859	90686514	6	33638											
PRKRA	8575	hgsc.bcm.edu	37	2	179306336	179306336	+	Splice_Site	SNP	C	C	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr2:179306336C>T	ENST00000325748.4	-	6	810		c.e6+1		PRKRA_ENST00000432031.2_Splice_Site|PRKRA_ENST00000487082.1_Splice_Site|AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000438687.3_Splice_Site	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator						cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ACATTACTCACTAAAGAAATG	0.353																																					Melanoma(200;68 3001 23825 48764)											1	Unknown(1)	lung(1)											70	74	73					2																	179306336		2203	4300	6503	SO:0001630	splice_region_variant	8575			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"protein activator of the interferon-induced protein kinase"	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.609+1G>A	chr2.hg19:g.179306336C>T			A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Splice_Site	SNP	ENST00000325748.4	hg19	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689950	0.68271	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5111	0.44862	0.0:0.9114:0.0:0.0886	.	.	.	.	.	-1	.	.	.	-	.	.	PRKRA	179014582	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.492000	0.60334	2.618000	0.88619	0.591000	0.81541	.		0.353	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	Intron	T	179306336	C	T	179306336	5	4	617	1	0	0	0	0	0	0	1	0	12529	579	20	2	343	2	PRKRA	2	179306336	Splice_Site	SNP	C	TCGA-DW-5560-01A-01D-1589-08	26793477	179306336	63893037	7	33639											
TTN	7273	hgsc.bcm.edu	37	2	179433843	179433843	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr2:179433843G>C	ENST00000591111.1	-	276	72317	c.72093C>G	c.(72091-72093)taC>taG	p.Y24031*	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y16799*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y16732*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y16607*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y25672*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y23104*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24031	Fibronectin type-III 74. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTCTAAAGTAATAACTGC	0.418																																																0													171	169	170					2																	179433843		1958	4136	6094	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72093C>G	chr2.hg19:g.179433843G>C	ENSP00000465570:p.Tyr24031*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	G	63	76.472557	0.99993	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.5208	0.61566	0.071:0.0:0.929:0.0	.	.	.	.	X	23104;16607;16799;16732;16605	.	ENSP00000340554:Y16799X	Y	-	3	2	TTN	179142089	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.714000	0.68422	2.803000	0.96430	0.650000	0.86243	TAC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179433843	G	C	179433843	4	2	617	1	0	0	0	0	0	1	0	0	16740	1024	36	4	31111	4	TTN	2	179433843	Nonsense_Mutation	SNP	G	TCGA-DW-5560-01A-01D-1589-08	127507	179433843	63765530	8	33640											
RBM6	10180	hgsc.bcm.edu	37	3	50005960	50005960	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr3:50005960G>T	ENST00000266022.4	+	3	1361	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.D236Y|RBM6_ENST00000539992.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	368					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCAAGACCAAGATAAGTCACA	0.463																																																0													80	76	78					3																	50005960		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1102G>T	chr3.hg19:g.50005960G>T	ENSP00000266022:p.Asp368Tyr		O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	hg19	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043431	0.36085	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.36878	1.23;1.25	5.85	3.97	0.46021	.	0.614854	0.16479	N	0.212625	T	0.29389	0.0732	N	0.24115	0.695	0.80722	D	1	D	0.59767	0.986	P	0.49752	0.621	T	0.01988	-1.1234	9	.	.	.	-4.7397	7.5857	0.27991	0.1421:0.1365:0.7214:0.0	.	368	P78332	RBM6_HUMAN	Y	368;236	ENSP00000266022:D368Y;ENSP00000396466:D236Y	.	D	+	1	0	RBM6	49980964	1.000000	0.71417	0.999000	0.59377	0.735000	0.41995	2.640000	0.46579	1.495000	0.48549	0.491000	0.48974	GAT		0.463	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		T	50005960	G	T	50005960	3	4	617	1	0	0	0	0	1	0	0	0	13150	942	33	4	1108	4	RBM6	3	50005960	Missense_Mutation	SNP	G	TCGA-DW-5560-01A-01D-1589-08		50005960	148016470	9	33641											
PET112L	5188	hgsc.bcm.edu	37	4	152592364	152592364	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr4:152592364T>C	ENST00000515812.1	-	12	1529	c.1513A>G	c.(1513-1515)Atg>Gtg	p.M505V	PET112_ENST00000263985.6_Missense_Mutation_p.M546V|RP11-164P12.4_ENST00000508664.1_RNA|PET112_ENST00000507592.1_5'UTR																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						TCCTTTATCATGACTGGATCT	0.483																																																0													178	163	168					4																	152592364		2203	4300	6503	SO:0001583	missense	5188																														ENST00000515812.1:c.1513A>G	chr4.hg19:g.152592364T>C	ENSP00000426859:p.Met505Val			Missense_Mutation	SNP	ENST00000515812.1	hg19		.	.	.	.	.	.	.	.	.	.	T	0.061	-1.224008	0.01530	.	.	ENSG00000059691	ENST00000263985;ENST00000515812	T;T	0.39592	1.07;1.08	5.8	-5.06	0.02946	Asn/Gln amidotransferase (2);	0.986159	0.08279	N	0.970181	T	0.13286	0.0322	N	0.02181	-0.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39961	-0.9588	10	0.06365	T	0.9	0.2792	10.1442	0.42753	0.0:0.1381:0.5532:0.3086	.	546	O75879	GATB_HUMAN	V	546;505	ENSP00000263985:M546V;ENSP00000426859:M505V	ENSP00000263985:M546V	M	-	1	0	PET112	152811814	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.347000	0.07750	-0.814000	0.04352	-0.904000	0.02843	ATG		0.483	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			C	152592364	T	C	152592364	3	2	617	1	0	0	0	0	1	0	0	0	11736	1464	51	3	41	3	PET112L	4	152592364	Missense_Mutation	SNP	T	TCGA-DW-5560-01A-01D-1589-08		152592364	38561912	10	33642											
F12	2161	hgsc.bcm.edu	37	5	176831341	176831341	+	Silent	SNP	G	G	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr5:176831341G>A	ENST00000253496.3	-	9	922	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	292	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	CACTGTGCCAGGTCGCAGTAC	0.692									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													17	21	19					5																	176831341		2201	4296	6497	SO:0001819	synonymous_variant	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.874C>T	chr5.hg19:g.176831341G>A		1934	P78339	Silent	SNP	ENST00000253496.3	hg19	CCDS34302.1																																																																																				0.692	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			A	176831341	G	A	176831341	2	1	617	1	0	0	0	0	0	0	0	1	5341	991	35	2		2	F12	5	176831341	Silent	SNP	G	TCGA-DW-5560-01A-01D-1589-08		176831341	4083919	11	33643											
VPS37D	155382	hgsc.bcm.edu	37	7	73083798	73083798	+	Missense_Mutation	SNP	C	C	G	rs370705512		TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr7:73083798C>G	ENST00000324941.4	+	2	322	c.188C>G	c.(187-189)gCg>gGg	p.A63G	VPS37D_ENST00000451519.1_Intron	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCCAACTACGCGCTGGCCAAG	0.677																																																0													7	9	8					7																	73083798		1885	4067	5952	SO:0001583	missense	155382			AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"Williams Beuren syndrome chromosome region 24", "vacuolar protein sorting 37D (yeast)"	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.188C>G	chr7.hg19:g.73083798C>G	ENSP00000320416:p.Ala63Gly			Missense_Mutation	SNP	ENST00000324941.4	hg19	CCDS43596.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336561	0.41398	.	.	ENSG00000176428	ENST00000324941	T	0.77229	-1.08	4.3	3.41	0.39046	Modifier of rudimentary, Modr (1);	0.335218	0.24041	U	0.042099	T	0.64438	0.2598	N	0.14661	0.345	0.80722	D	1	P	0.49090	0.919	P	0.46172	0.506	T	0.66002	-0.6031	10	0.66056	D	0.02	.	8.0448	0.30542	0.0:0.8859:0.0:0.1141	.	63	Q86XT2	VP37D_HUMAN	G	63	ENSP00000320416:A63G	ENSP00000320416:A63G	A	+	2	0	VPS37D	72721734	0.015000	0.18098	0.868000	0.34077	0.570000	0.35934	1.008000	0.29872	1.024000	0.39682	0.563000	0.77884	GCG		0.677	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	NM_152560		G	73083798	C	G	73083798	3	3	617	1	0	0	0	0	1	0	0	0	17213	768	27	4	194	4	VPS37D	7	73083798	Missense_Mutation	SNP	C	TCGA-DW-5560-01A-01D-1589-08		73083798	86054865	12	33644											
EDF1	8721	hgsc.bcm.edu	37	9	139757816	139757816	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr9:139757816C>A	ENST00000224073.1	-	3	242	c.215G>T	c.(214-216)aGg>aTg	p.R72M	EDF1_ENST00000371649.1_Missense_Mutation_p.R72M|EDF1_ENST00000371648.4_Missense_Mutation_p.R72M	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	72	Interaction with NR5A2, PPARG and NR1H3.|Interaction with TBP and NR5A1.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CAGGGTCACCCTGTCATGGTG	0.617																																																0													150	112	125					9																	139757816		2203	4300	6503	SO:0001583	missense	8721			AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"multiprotein bridging factor-1"	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.215G>T	chr9.hg19:g.139757816C>A	ENSP00000224073:p.Arg72Met		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	ENST00000224073.1	hg19	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877120	0.91664	.	.	ENSG00000107223	ENST00000371649;ENST00000224073;ENST00000371648	.	.	.	5.79	4.9	0.64082	Lambda repressor-like, DNA-binding (1);Multiprotein bridging factor 1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.80847	2.515	0.80722	D	1	P;P	0.48407	0.897;0.91	P;P	0.57425	0.725;0.82	T	0.80741	-0.1247	9	0.87932	D	0	-10.8624	14.6074	0.68489	0.0:0.9301:0.0:0.0699	.	72;72	O60869-2;O60869	.;EDF1_HUMAN	M	72	.	ENSP00000224073:R72M	R	-	2	0	EDF1	138877637	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.317000	0.79018	1.463000	0.47967	0.655000	0.94253	AGG		0.617	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			A	139757816	C	A	139757816	3	1	617	1	0	0	0	0	1	0	0	0	4916	681	24	4	278	4	EDF1	9	139757816	Missense_Mutation	SNP	C	TCGA-DW-5560-01A-01D-1589-08		139757816	1455615	13	33645											
OR52H1	390067	hgsc.bcm.edu	37	11	5566652	5566652	+	Frame_Shift_Del	DEL	C	C	-	rs565760908		TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr11:5566652delC	ENST00000322653.4	-	1	127	c.102delG	c.(100-102)tggfs	p.W34fs	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATTCCAATCCACACATGGA	0.473																																																0													88	80	83					11																	5566652		2201	4297	6498	SO:0001589	frameshift_variant	390067			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.102delG	chr11.hg19:g.5566652delC	ENSP00000326259:p.Trp34fs		B9EH26|Q6IF79	Frame_Shift_Del	DEL	ENST00000322653.4	hg19	CCDS31386.1																																																																																				0.473	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		-	5566652	C	-	5566652	7	5	617	1	0	1	0	1	0	0	0	0	11121	856	30	0	863	0	OR52H1	11	5566652	Frame_Shift_Del	DEL	C	TCGA-DW-5560-01A-01D-1589-08		5566652	129439864	14	33646											
SAPS3	55291	hgsc.bcm.edu	37	11	68318634	68318637	+	Frame_Shift_Del	DEL	CATC	CATC	-			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	CATC	CATC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr11:68318634_68318637delCATC	ENST00000393800.2	+	6	852_855	c.598_601delCATC	c.(598-603)catccafs	p.HP200fs	PPP6R3_ENST00000527403.2_Frame_Shift_Del_p.HP200fs|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265636.5_Frame_Shift_Del_p.HP200fs|PPP6R3_ENST00000393799.2_Frame_Shift_Del_p.HP200fs|PPP6R3_ENST00000393801.3_Frame_Shift_Del_p.HP200fs|PPP6R3_ENST00000529710.1_Frame_Shift_Del_p.HP200fs|PPP6R3_ENST00000524904.1_Frame_Shift_Del_p.HP200fs|PPP6R3_ENST00000265637.4_Frame_Shift_Del_p.HP200fs|PPP6R3_ENST00000524845.1_Frame_Shift_Del_p.HP200fs	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	200					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGAAATAGTTCATCCATCGCAAGA	0.348																																																0																																										SO:0001589	frameshift_variant	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.598_601delCATC	chr11.hg19:g.68318638_68318641delCATC	ENSP00000377389:p.His200fs		Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Frame_Shift_Del	DEL	ENST00000393800.2	hg19	CCDS53672.1																																																																																				0.348	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		-	68318637	CATC	-	68318634	7	5	617	1	0	1	0	1	0	0	0	0	13844	826	29	0	612	0	SAPS3	11	68318634	Frame_Shift_Del	DEL	CATC	TCGA-DW-5560-01A-01D-1589-08	62751982	68318634	66687882	15	33647											
RPL6	6128	hgsc.bcm.edu	37	12	112843158	112843158	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr12:112843158C>T	ENST00000424576.2	-	7	922	c.737G>A	c.(736-738)cGc>cAc	p.R246H	RPL6_ENST00000202773.9_Missense_Mutation_p.R246H	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	246					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						ATCAATCTTGCGCTGCTCCGT	0.393																																																0													23	25	24					12																	112843158		2187	4288	6475	SO:0001583	missense	6128			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"L ribosomal proteins"	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.737G>A	chr12.hg19:g.112843158C>T	ENSP00000403172:p.Arg246His		Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	hg19	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498413	0.64298	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923	T;T	0.34072	1.38;1.38	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.66297	2.02	0.80722	D	1	B	0.30439	0.279	B	0.29524	0.103	T	0.40572	-0.9556	10	0.62326	D	0.03	.	16.8348	0.85954	0.0:1.0:0.0:0.0	.	246	Q02878	RL6_HUMAN	H	246;246;186	ENSP00000202773:R246H;ENSP00000403172:R246H	ENSP00000202773:R246H	R	-	2	0	RPL6	111327541	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.919000	0.75793	2.408000	0.81797	0.591000	0.81541	CGC		0.393	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			T	112843158	C	T	112843158	3	4	617	1	0	0	0	0	1	0	0	0	13604	768	27	1	133	1	RPL6	12	112843158	Missense_Mutation	SNP	C	TCGA-DW-5560-01A-01D-1589-08		112843158	21008737	16	33648											
SBNO1	55206	hgsc.bcm.edu	37	12	123801801	123801802	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr12:123801801_123801802insT	ENST00000602398.1	-	21	3028_3029	c.2901_2902insA	c.(2899-2904)ttacctfs	p.P968fs	SBNO1_ENST00000420886.2_Frame_Shift_Ins_p.P968fs|SBNO1_ENST00000267176.4_Frame_Shift_Ins_p.P967fs|SBNO1_ENST00000602750.1_Frame_Shift_Ins_p.P967fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	968					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)		GCGCTCCAAGGTAATTCTAAAG	0.396																																																0																																										SO:0001589	frameshift_variant	55206			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.2902dupA	chr12.hg19:g.123801802_123801802dupT	ENSP00000473665:p.Pro968fs		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Ins	INS	ENST00000602398.1	hg19	CCDS53844.1																																																																																				0.396	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		T	123801802	-	T	123801801	7	5	617	1	0	1	1	0	0	0	0	0	13868	1261	44	0	1327	0	SBNO1	12	123801801	Frame_Shift_Ins	INS	-	TCGA-DW-5560-01A-01D-1589-08	10958643	123801801	10050094	17	33649											
INF2	64423	hgsc.bcm.edu	37	14	105174895	105174896	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr14:105174895_105174896insC	ENST00000392634.4	+	9	1970_1971	c.1858_1859insC	c.(1858-1860)gccfs	p.A620fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.A620fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	620	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CACCATGGTGGCCCCCCGGGCC	0.703											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	64423			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1864dupC	chr14.hg19:g.105174901_105174901dupC	ENSP00000376410:p.Ala620fs	1387	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	hg19	CCDS9989.2																																																																																				0.703	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		C	105174896	-	C	105174895	7	5	617	1	0	1	1	0	0	0	0	0	7736	1203	42	0	1892	0	INF2	14	105174895	Frame_Shift_Ins	INS	-	TCGA-DW-5560-01A-01D-1589-08		105174895	2174645	18	33650											
CHD2	1106	hgsc.bcm.edu	37	15	93567925	93567925	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr15:93567925G>A	ENST00000394196.4	+	39	6545	c.5477G>A	c.(5476-5478)cGg>cAg	p.R1826Q		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1826					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGGAATGTTCGGAAAACATAA	0.428																																																0													50	47	48					15																	93567925		1887	4107	5994	SO:0001583	missense	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5477G>A	chr15.hg19:g.93567925G>A	ENSP00000377747:p.Arg1826Gln		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	hg19	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	36	5.643949	0.96704	.	.	ENSG00000173575	ENST00000394196	D	0.92647	-3.08	5.56	5.56	0.83823	.	.	.	.	.	D	0.93485	0.7921	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.94151	0.7405	9	0.72032	D	0.01	-0.1389	19.8965	0.96963	0.0:0.0:1.0:0.0	.	1826	O14647	CHD2_HUMAN	Q	1826	ENSP00000377747:R1826Q	ENSP00000377747:R1826Q	R	+	2	0	CHD2	91368929	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.932000	0.75869	2.771000	0.95319	0.563000	0.77884	CGG		0.428	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		A	93567925	G	A	93567925	3	1	617	1	0	0	0	0	1	0	0	0	3327	1116	39	1	5631	1	CHD2	15	93567925	Missense_Mutation	SNP	G	TCGA-DW-5560-01A-01D-1589-08		93567925	8963467	19	33651											
PLEKHG4	25894	hgsc.bcm.edu	37	16	67315014	67315014	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr16:67315014G>C	ENST00000360461.5	+	4	3275	c.740G>C	c.(739-741)gGa>gCa	p.G247A	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.G247A|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.G247A|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.G166A	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	247							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGGCACTGGGACTGACAGTG	0.552																																																0													138	123	128					16																	67315014		2198	4300	6498	SO:0001583	missense	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.740G>C	chr16.hg19:g.67315014G>C	ENSP00000353646:p.Gly247Ala		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	hg19	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393426	0.96009	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.71	5.71	0.89125	.	0.000000	0.32802	N	0.005631	T	0.66366	0.2782	M	0.88570	2.965	0.35318	D	0.78447	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.78059	-0.2352	10	0.62326	D	0.03	.	15.3559	0.74425	0.0:0.0:1.0:0.0	.	166;54;247	Q58EX7-2;B4E3H4;Q58EX7	.;.;PKHG4_HUMAN	A	247;247;247;166	ENSP00000353646:G247A;ENSP00000401118:G247A;ENSP00000368649:G247A;ENSP00000398030:G166A	ENSP00000353646:G247A	G	+	2	0	PLEKHG4	65872515	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.887000	0.69751	2.688000	0.91661	0.591000	0.81541	GGA		0.552	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		C	67315014	G	C	67315014	3	2	617	1	0	0	0	0	1	0	0	0	12073	1174	41	4	754	4	PLEKHG4	16	67315014	Missense_Mutation	SNP	G	TCGA-DW-5560-01A-01D-1589-08		67315014	23039739	20	33652											
ABR	29	hgsc.bcm.edu	37	17	975901	975901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr17:975901C>A	ENST00000302538.5	-	8	993	c.847G>T	c.(847-849)Gag>Tag	p.E283*	ABR_ENST00000574437.1_Nonsense_Mutation_p.E237*|ABR_ENST00000536794.2_Nonsense_Mutation_p.E65*|ABR_ENST00000544583.2_Nonsense_Mutation_p.E237*|ABR_ENST00000291107.2_Nonsense_Mutation_p.E246*	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	283	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E283K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCGATGTCCTCGTTGATGCTG	0.642																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)											1	Substitution - Missense(1)	breast(1)											99	78	85					17																	975901		2203	4300	6503	SO:0001587	stop_gained	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.847G>T	chr17.hg19:g.975901C>A	ENSP00000303909:p.Glu283*		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Nonsense_Mutation	SNP	ENST00000302538.5	hg19	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	37	6.326444	0.97476	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000382259	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.0001	0.92830	0.0:1.0:0.0:0.0	.	.	.	.	X	283;237;246;65;167	.	ENSP00000291107:E246X	E	-	1	0	ABR	922651	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.751000	0.85126	2.712000	0.92718	0.650000	0.86243	GAG		0.642	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			A	975901	C	A	975901	4	1	617	1	0	0	0	0	0	1	0	0	99	893	31	4	1796	4	ABR	17	975901	Nonsense_Mutation	SNP	C	TCGA-DW-5560-01A-01D-1589-08		975901	80219309	21	33653											
CDK12	51755	hgsc.bcm.edu	37	17	37627488	37627488	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr17:37627488T>A	ENST00000447079.4	+	2	1436	c.1403T>A	c.(1402-1404)cTa>cAa	p.L468Q	CDK12_ENST00000430627.2_Missense_Mutation_p.L468Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	468					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTAACACATCTAAACACAGAG	0.383			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													98	103	101					17																	37627488		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1403T>A	chr17.hg19:g.37627488T>A	ENSP00000398880:p.Leu468Gln		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	hg19	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939975	0.34283	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.39787	1.06;1.06	5.76	3.58	0.41010	.	0.608641	0.12825	N	0.436065	T	0.22589	0.0545	N	0.14661	0.345	0.21220	N	0.99976	B;B;B	0.16603	0.01;0.01;0.018	B;B;B	0.25291	0.026;0.026;0.059	T	0.18967	-1.0320	10	0.25106	T	0.35	-0.9823	2.5375	0.04717	0.2138:0.3455:0.0:0.4407	.	467;468;468	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	Q	468	ENSP00000407720:L468Q;ENSP00000398880:L468Q	ENSP00000407720:L468Q	L	+	2	0	CDK12	34881014	0.002000	0.14202	1.000000	0.80357	0.998000	0.95712	0.584000	0.23864	1.076000	0.40961	0.528000	0.53228	CTA		0.383	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		A	37627488	T	A	37627488	3	1	617	1	0	0	0	0	1	0	0	0	3130	1522	53	5	1409	5	CDK12	17	37627488	Missense_Mutation	SNP	T	TCGA-DW-5560-01A-01D-1589-08	36651587	37627488	43567722	22	33654											
JUP	3728	hgsc.bcm.edu	37	17	39914006	39914006	+	Missense_Mutation	SNP	G	G	T	rs199511559		TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr17:39914006G>T	ENST00000393931.3	-	11	1922	c.1804C>A	c.(1804-1806)Cgc>Agc	p.R602S	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R602S|JUP_ENST00000310706.5_Missense_Mutation_p.R602S	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	602	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.R602C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCAGCCACGCGCTGGATGTTC	0.667																																					Colon(16;42 520 6044 17852 28530)											1	Substitution - Missense(1)	endometrium(1)											25	24	25					17																	39914006		2203	4297	6500	SO:0001583	missense	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1804C>A	chr17.hg19:g.39914006G>T	ENSP00000377508:p.Arg602Ser		Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	hg19	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128863	0.77549	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.70869	-0.52;-0.52;-0.52	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80899	0.4712	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82339	-0.0506	10	0.87932	D	0	-13.1972	12.2188	0.54423	0.0:0.0:0.83:0.17	.	602	P14923	PLAK_HUMAN	S	602	ENSP00000377507:R602S;ENSP00000311113:R602S;ENSP00000377508:R602S	ENSP00000311113:R602S	R	-	1	0	JUP	37167532	1.000000	0.71417	0.998000	0.56505	0.634000	0.38068	4.360000	0.59455	2.518000	0.84900	0.561000	0.74099	CGC		0.667	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			T	39914006	G	T	39914006	3	4	617	1	0	0	0	0	1	0	0	0	7974	1087	38	4	449	4	JUP	17	39914006	Missense_Mutation	SNP	G	TCGA-DW-5560-01A-01D-1589-08	2286518	39914006	41281204	23	33655											
CLTC	1213	hgsc.bcm.edu	37	17	57754485	57754485	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr17:57754485A>G	ENST00000269122.3	+	17	3006	c.2732A>G	c.(2731-2733)aAg>aGg	p.K911R	CLTC_ENST00000393043.1_Missense_Mutation_p.K911R|CLTC_ENST00000579815.1_3'UTR|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	911	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATTGTGAGAAGAGAGATCCA	0.423			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													118	116	116					17																	57754485		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2732A>G	chr17.hg19:g.57754485A>G	ENSP00000269122:p.Lys911Arg		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	hg19	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	34	5.330051	0.95733	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.23552	1.9;1.9	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.85945	2.785	0.80722	D	1	D;B	0.69078	0.997;0.139	D;B	0.83275	0.996;0.394	T	0.60707	-0.7210	10	0.48119	T	0.1	.	15.9483	0.79809	1.0:0.0:0.0:0.0	.	911;911	Q00610;Q00610-2	CLH1_HUMAN;.	R	911	ENSP00000269122:K911R;ENSP00000376763:K911R	ENSP00000269122:K911R	K	+	2	0	CLTC	55109267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	2.168000	0.68352	0.455000	0.32223	AAG		0.423	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		G	57754485	A	G	57754485	3	3	617	1	0	0	0	0	1	0	0	0	3568	72	3	3	2798	3	CLTC	17	57754485	Missense_Mutation	SNP	A	TCGA-DW-5560-01A-01D-1589-08	17840479	57754485	23440725	24	33656											
SLC16A6	9120	hgsc.bcm.edu	37	17	66267173	66267173	+	Silent	SNP	A	A	G			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr17:66267173A>G	ENST00000327268.4	-	6	1292	c.1128T>C	c.(1126-1128)ttT>ttC	p.F376F	SLC16A6_ENST00000580666.1_Silent_p.F376F|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	376					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)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TAGCAAAAGTAAAGGCAAACA	0.443																																																0													120	112	115					17																	66267173		2203	4300	6503	SO:0001819	synonymous_variant	9120			U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1128T>C	chr17.hg19:g.66267173A>G			Q6P1X3	Silent	SNP	ENST00000327268.4	hg19	CCDS11675.1																																																																																				0.443	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		G	66267173	A	G	66267173	2	3	617	1	0	0	0	0	0	0	0	1	14418	359	13	3		3	SLC16A6	17	66267173	Silent	SNP	A	TCGA-DW-5560-01A-01D-1589-08	8512688	66267173	14928037	25	33657											
NCOA3	8202	hgsc.bcm.edu	37	20	46252817	46252817	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr20:46252817delA	ENST00000371998.3	+	4	437	c.246delA	c.(244-246)atafs	p.I82fs	NCOA3_ENST00000341724.6_Frame_Shift_Del_p.I82fs|NCOA3_ENST00000372004.3_Frame_Shift_Del_p.I82fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.I82fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TACGTCAAATAAAAGAGCAAG	0.378																																																0													61	58	59					20																	46252817		2203	4300	6503	SO:0001589	frameshift_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.246delA	chr20.hg19:g.46252817delA	ENSP00000361066:p.Ile82fs		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	ENST00000371998.3	hg19	CCDS13407.1																																																																																				0.378	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		-	46252817	A	-	46252817	7	5	617	1	0	1	0	1	0	0	0	0	10232	352	13	0	252	0	NCOA3	20	46252817	Frame_Shift_Del	DEL	A	TCGA-DW-5560-01A-01D-1589-08		46252817	16772703	26	33658											
FBXO7	25793	hgsc.bcm.edu	37	22	32889131	32889131	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-5560-01A-01D-1589-08	TCGA-DW-5560-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5a6ec0d8-cd0a-4f81-b981-27efdc14709c	e5457299-318e-451f-8658-07ea29ecbd40	g.chr22:32889131C>A	ENST00000266087.7	+	7	1334	c.1007C>A	c.(1006-1008)cCa>cAa	p.P336Q	FBXO7_ENST00000397426.1_Missense_Mutation_p.P222Q|FBXO7_ENST00000382058.3_Missense_Mutation_p.P257Q	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	336	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTCGTCCTCCCATTGGAACTG	0.438																																																0													371	310	330					22																	32889131		2203	4300	6503	SO:0001583	missense	25793			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1007C>A	chr22.hg19:g.32889131C>A	ENSP00000266087:p.Pro336Gln		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	hg19	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192232	0.78902	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	D;D;D	0.99709	-6.48;-6.48;-6.48	6.08	6.08	0.98989	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.97617	1.0133	10	0.87932	D	0	-17.0815	20.6634	0.99662	0.0:1.0:0.0:0.0	.	336;257;336	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	Q	336;257;222	ENSP00000266087:P336Q;ENSP00000371490:P257Q;ENSP00000380571:P222Q	ENSP00000266087:P336Q	P	+	2	0	FBXO7	31219131	1.000000	0.71417	0.815000	0.32552	0.630000	0.37929	5.980000	0.70516	2.894000	0.99253	0.655000	0.94253	CCA		0.438	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			A	32889131	C	A	32889131	3	1	617	1	0	0	0	0	1	0	0	0	5762	594	21	4	1074	4	FBXO7	22	32889131	Missense_Mutation	SNP	C	TCGA-DW-5560-01A-01D-1589-08		32889131	18415435	27	33659											
UBIAD1	29914	hgsc.bcm.edu	37	1	11346095	11346095	+	Silent	SNP	G	G	C			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr1:11346095G>C	ENST00000376810.5	+	2	1250	c.924G>C	c.(922-924)ctG>ctC	p.L308L	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	308					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TCAACAAACTGCCCCAGAGGA	0.547																																																0													110	107	108					1																	11346095		2203	4300	6503	SO:0001819	synonymous_variant	29914				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.924G>C	chr1.hg19:g.11346095G>C			B3KQG3|Q53GX3|Q5THD4	Silent	SNP	ENST00000376810.5	hg19	CCDS129.1																																																																																				0.547	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		C	11346095	G	C	11346095	2	2	618	1	0	0	0	0	0	0	0	1	16890	1306	46	4		4	UBIAD1	1	11346095	Silent	SNP	G	TCGA-DW-5561-01A-01D-1589-08		11346095	237904526	1	33660											
PADI3	51702	hgsc.bcm.edu	37	1	17609568	17609568	+	Silent	SNP	G	G	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr1:17609568G>A	ENST00000375460.3	+	16	2029	c.1989G>A	c.(1987-1989)gtG>gtA	p.V663V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	663					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGAACATGGTGCCCTGAGACA	0.572																																																0													90	74	79					1																	17609568		2203	4300	6503	SO:0001819	synonymous_variant	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1989G>A	chr1.hg19:g.17609568G>A			Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	hg19	CCDS179.1																																																																																				0.572	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			A	17609568	G	A	17609568	2	1	618	1	0	0	0	0	0	0	0	1	11381	1306	46	2		2	PADI3	1	17609568	Silent	SNP	G	TCGA-DW-5561-01A-01D-1589-08	6263473	17609568	231641053	2	33661											
ZDHHC18	84243	hgsc.bcm.edu	37	1	27176925	27176925	+	Silent	SNP	G	G	A	rs373583803		TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr1:27176925G>A	ENST00000374142.4	+	4	875	c.780G>A	c.(778-780)acG>acA	p.T260T		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	260					cellular protein localization (GO:0034613)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CCCACCTGACGTTGCGTGAGT	0.567																																																0								G		0,4406		0,0,2203	159	139	145		780	-3.6	1	1		145	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZDHHC18	NM_032283.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		260/389	27176925	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84243			AK056427	CCDS30650.1	1p36.11	2008-05-02			ENSG00000204160	ENSG00000204160		"Zinc fingers, DHHC-type"	20712	protein-coding gene	gene with protein product							Standard	NM_032283		Approved	DKFZp667O2416	uc001bnb.3	Q9NUE0	OTTHUMG00000004092	ENST00000374142.4:c.780G>A	chr1.hg19:g.27176925G>A			A6NHY9|B4DQ84|Q5JYH0|Q9H020	Silent	SNP	ENST00000374142.4	hg19	CCDS30650.1	.	.	.	.	.	.	.	.	.	.	G	8.860	0.946706	0.18356	0.0	2.33E-4	ENSG00000204160	ENST00000488397	.	.	.	5.05	-3.58	0.04597	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35968	-0.9767	4	.	.	.	-4.0065	0.8159	0.01102	0.389:0.2593:0.1417:0.21	.	.	.	.	I	25	.	.	V	+	1	0	ZDHHC18	27049512	0.000000	0.05858	0.965000	0.40720	0.894000	0.52154	-1.818000	0.01717	-0.387000	0.07809	-0.215000	0.12644	GTT		0.567	ZDHHC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011706.3	NM_032283		A	27176925	G	A	27176925	2	1	618	1	0	0	0	0	0	0	0	1	17613	1132	40	1		1	ZDHHC18	1	27176925	Silent	SNP	G	TCGA-DW-5561-01A-01D-1589-08	9567357	27176925	222073696	3	33662											
KIAA1522	57648	hgsc.bcm.edu	37	1	33237745	33237745	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr1:33237745C>A	ENST00000373480.1	+	6	2891	c.2788C>A	c.(2788-2790)Cct>Act	p.P930T	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.P989T|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P941T	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	930	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCCCGTGTCCCCTGAGACCCA	0.647																																																0													20	27	25					1																	33237745		1981	4161	6142	SO:0001583	missense	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2788C>A	chr1.hg19:g.33237745C>A	ENSP00000362579:p.Pro930Thr		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	hg19	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793037	0.70452	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.17054	2.3;2.33;2.35	4.85	4.85	0.62838	.	0.315683	0.28011	N	0.016953	T	0.36358	0.0964	L	0.59436	1.845	0.32817	D	0.502245	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.988;0.988	T	0.33394	-0.9870	10	0.37606	T	0.19	-12.0197	14.185	0.65601	0.0:0.8504:0.1496:0.0	.	941;930;989	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	T	989;941;930	ENSP00000383851:P989T;ENSP00000362580:P941T;ENSP00000362579:P930T	ENSP00000362579:P930T	P	+	1	0	KIAA1522	33010332	0.987000	0.35691	1.000000	0.80357	0.799000	0.45148	2.754000	0.47532	2.682000	0.91365	0.650000	0.86243	CCT		0.647	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			A	33237745	C	A	33237745	3	1	618	1	0	0	0	0	1	0	0	0	8240	623	22	4	2987	4	KIAA1522	1	33237745	Missense_Mutation	SNP	C	TCGA-DW-5561-01A-01D-1589-08	6060820	33237745	216012876	4	33663											
MACF1	23499	hgsc.bcm.edu	37	1	39835802	39835802	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr1:39835802C>G	ENST00000372915.3	+	50	13141	c.13054C>G	c.(13054-13056)Cct>Gct	p.P4352A	MACF1_ENST00000564288.1_Missense_Mutation_p.P4347A|MACF1_ENST00000361689.2_Missense_Mutation_p.P2285A|MACF1_ENST00000317713.7_Missense_Mutation_p.P2285A|MACF1_ENST00000289893.4_Missense_Mutation_p.P2787A|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.P2285A|MACF1_ENST00000539005.1_Missense_Mutation_p.P2285A|MACF1_ENST00000567887.1_Missense_Mutation_p.P4384A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4352					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGTATTCCACCTACGGAAAC	0.448																																																0													75	76	76					1																	39835802		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13054C>G	chr1.hg19:g.39835802C>G	ENSP00000362006:p.Pro4352Ala		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.632|0.632	-0.816867|-0.816867	0.02776|0.02776	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.32023|.	1.47;1.47;1.47;1.47;1.47;1.47|.	5.37|5.37	-0.194|-0.194	0.13240|0.13240	.|.	0.900226|.	0.09361|.	N|.	0.812758|.	T|T	0.20292|0.20292	0.0488|0.0488	N|N	0.16368|0.16368	0.405|0.405	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.15141|.	0.012;0.003;0.002;0.001|.	B;B;B;B|.	0.25759|.	0.063;0.004;0.007;0.006|.	T|T	0.29518|0.29518	-1.0009|-1.0009	10|5	0.07175|.	T|.	0.84|.	.|.	6.3552|6.3552	0.21397|0.21397	0.0:0.4709:0.249:0.28|0.0:0.4709:0.249:0.28	.|.	4352;2285;2285;2250|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	A|S	2285;4352;2285;2285;2285;2787|1418	ENSP00000439537:P2285A;ENSP00000362006:P4352A;ENSP00000354573:P2285A;ENSP00000313438:P2285A;ENSP00000444364:P2285A;ENSP00000289893:P2787A|.	ENSP00000289893:P2787A|.	P|T	+|+	1|2	0|0	MACF1|MACF1	39608389|39608389	0.000000|0.000000	0.05858|0.05858	0.116000|0.116000	0.21606|0.21606	0.992000|0.992000	0.81027|0.81027	0.181000|0.181000	0.16880|0.16880	0.245000|0.245000	0.21373|0.21373	0.655000|0.655000	0.94253|0.94253	CCT|ACC		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		G	39835802	C	G	39835802	3	3	618	1	0	0	0	0	1	0	0	0	9146	507	18	4	13186	4	MACF1	1	39835802	Missense_Mutation	SNP	C	TCGA-DW-5561-01A-01D-1589-08	6598057	39835802	209414819	5	33664											
TMEM81	388730	hgsc.bcm.edu	37	1	205052751	205052751	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr1:205052751G>T	ENST00000367167.3	-	1	894	c.698C>A	c.(697-699)gCc>gAc	p.A233D		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	233						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CACTCCAATGGCAATTCCTAT	0.512																																																0													133	120	124					1																	205052751		2203	4300	6503	SO:0001583	missense	388730			BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.698C>A	chr1.hg19:g.205052751G>T	ENSP00000356135:p.Ala233Asp		Q6UVZ4	Missense_Mutation	SNP	ENST00000367167.3	hg19	CCDS1450.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569050	0.65765	.	.	ENSG00000174529	ENST00000367167	T	0.35605	1.3	5.79	-0.62	0.11567	.	1.790840	0.02843	N	0.128129	T	0.37183	0.0994	L	0.57536	1.79	0.09310	N	1	P	0.37276	0.589	B	0.38616	0.277	T	0.34354	-0.9832	10	0.66056	D	0.02	-30.4547	5.7266	0.18017	0.3683:0.291:0.3406:0.0	.	233	Q6P7N7	TMM81_HUMAN	D	233	ENSP00000356135:A233D	ENSP00000356135:A233D	A	-	2	0	TMEM81	203319374	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.115000	0.15540	-0.133000	0.11537	0.655000	0.94253	GCC		0.512	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		T	205052751	G	T	205052751	3	4	618	1	0	0	0	0	1	0	0	0	16210	1203	42	4	73	4	TMEM81	1	205052751	Missense_Mutation	SNP	G	TCGA-DW-5561-01A-01D-1589-08	165216949	205052751	44197870	6	33665											
CR2	1380	hgsc.bcm.edu	37	1	207642031	207642031	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr1:207642031A>C	ENST00000367058.3	+	3	794	c.605A>C	c.(604-606)aAa>aCa	p.K202T	CR2_ENST00000367057.3_Missense_Mutation_p.K202T|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.K202T|CR2_ENST00000367059.3_Missense_Mutation_p.K202T	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	202	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCTTCGGGAAAATGGAGTGCT	0.413																																																0													270	250	257					1																	207642031		2203	4300	6503	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.605A>C	chr1.hg19:g.207642031A>C	ENSP00000356025:p.Lys202Thr		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	hg19	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	A	1.073	-0.669450	0.03403	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.82	-5.11	0.02901	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.25121	0.0610	N	0.02158	-0.66	0.09310	N	1	B;B;B	0.13594	0.008;0.004;0.002	B;B;B	0.17979	0.02;0.015;0.007	T	0.24870	-1.0148	9	0.13470	T	0.59	.	3.9575	0.09396	0.2886:0.4405:0.0679:0.203	.	202;202;202	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	T	202	ENSP00000356025:K202T;ENSP00000356024:K202T;ENSP00000356026:K202T;ENSP00000404222:K202T	ENSP00000356024:K202T	K	+	2	0	CR2	205708654	0.000000	0.05858	0.013000	0.15412	0.042000	0.13812	-0.669000	0.05262	-0.440000	0.07211	-0.445000	0.05633	AAA		0.413	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		C	207642031	A	C	207642031	3	2	618	1	0	0	0	0	1	0	0	0	3844	14	1	5	615	5	CR2	1	207642031	Missense_Mutation	SNP	A	TCGA-DW-5561-01A-01D-1589-08	2589280	207642031	41608590	7	33666											
SPEG	10290	hgsc.bcm.edu	37	2	220338577	220338577	+	Silent	SNP	C	C	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr2:220338577C>A	ENST00000312358.7	+	18	4531	c.4399C>A	c.(4399-4401)Cga>Aga	p.R1467R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1467	Ig-like 7.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGCACCGCCCGAAACCGTCA	0.647																																																0													56	66	63					2																	220338577		2052	4184	6236	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4399C>A	chr2.hg19:g.220338577C>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	hg19	CCDS42824.1																																																																																				0.647	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		A	220338577	C	A	220338577	2	1	618	1	0	0	0	0	0	0	0	1	15041	644	23	4		4	SPEG	2	220338577	Silent	SNP	C	TCGA-DW-5561-01A-01D-1589-08		220338577	22860796	8	33667											
ATG7	10533	hgsc.bcm.edu	37	3	11356947	11356947	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr3:11356947T>A	ENST00000354449.3	+	7	683	c.658T>A	c.(658-660)Ttc>Atc	p.F220I	ATG7_ENST00000354956.5_Missense_Mutation_p.F220I|ATG7_ENST00000446450.2_Missense_Mutation_p.F181I	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	220					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CAGTGATTTCTTCCAAGGTCA	0.348																																																0													110	97	101					3																	11356947		2203	4300	6503	SO:0001583	missense	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.658T>A	chr3.hg19:g.11356947T>A	ENSP00000346437:p.Phe220Ile		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	hg19	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499788	0.64298	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.48522	0.81;0.81;0.81	4.67	4.67	0.58626	.	0.069886	0.64402	D	0.000020	T	0.50429	0.1615	M	0.88105	2.93	0.43381	D	0.995487	P;B;B	0.36086	0.536;0.134;0.083	B;B;B	0.29598	0.104;0.028;0.02	T	0.57751	-0.7757	9	.	.	.	-13.2176	11.6384	0.51217	0.0:0.0:0.0:1.0	.	181;220;220	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	I	181;220;220	ENSP00000412580:F181I;ENSP00000347042:F220I;ENSP00000346437:F220I	.	F	+	1	0	ATG7	11331947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.439000	0.59968	1.726000	0.51525	0.482000	0.46254	TTC		0.348	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		A	11356947	T	A	11356947	3	1	618	1	0	0	0	0	1	0	0	0	1101	1609	56	5	680	5	ATG7	3	11356947	Missense_Mutation	SNP	T	TCGA-DW-5561-01A-01D-1589-08		11356947	186665483	9	33668											
DHX30	22907	hgsc.bcm.edu	37	3	47882520	47882520	+	Silent	SNP	C	C	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr3:47882520C>A	ENST00000445061.1	+	7	927	c.520C>A	c.(520-522)Cga>Aga	p.R174R	DHX30_ENST00000446256.2_Silent_p.R135R|DHX30_ENST00000348968.4_Silent_p.R146R|DHX30_ENST00000457607.1_Silent_p.R202R	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	174						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGAGAGTATTCGACCAGGGGG	0.597																																																0													34	34	34					3																	47882520		2203	4300	6503	SO:0001819	synonymous_variant	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.520C>A	chr3.hg19:g.47882520C>A			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	hg19	CCDS2759.1																																																																																				0.597	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		A	47882520	C	A	47882520	2	1	618	1	0	0	0	0	0	0	0	1	4506	876	31	4		4	DHX30	3	47882520	Silent	SNP	C	TCGA-DW-5561-01A-01D-1589-08	36525573	47882520	150139910	10	33669											
ATP13A4	84239	hgsc.bcm.edu	37	3	193132518	193132518	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr3:193132518G>C	ENST00000342695.4	-	26	3186	c.2864C>G	c.(2863-2865)cCt>cGt	p.P955R	ATP13A4_ENST00000482964.1_5'Flank|ATP13A4_ENST00000400270.2_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.P936R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	955						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACCAGCTTAGGGTAGGCACC	0.408																																																0													76	69	72					3																	193132518		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2864C>G	chr3.hg19:g.193132518G>C	ENSP00000339182:p.Pro955Arg		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	hg19	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847905	0.71603	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.89485	-2.52;-2.52	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000001	D	0.94082	0.8103	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	D	0.92892	0.6332	10	0.40728	T	0.16	-24.9732	18.0311	0.89285	0.0:0.0:1.0:0.0	.	955	Q4VNC1	AT134_HUMAN	R	936;955	ENSP00000376238:P936R;ENSP00000339182:P955R	ENSP00000339182:P955R	P	-	2	0	ATP13A4	194615212	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.191000	0.65110	2.857000	0.98124	0.650000	0.86243	CCT		0.408	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		C	193132518	G	C	193132518	3	2	618	1	0	0	0	0	1	0	0	0	1126	1000	35	4	746	4	ATP13A4	3	193132518	Missense_Mutation	SNP	G	TCGA-DW-5561-01A-01D-1589-08	145249998	193132518	4889912	11	33670											
PARM1	25849	hgsc.bcm.edu	37	4	75937687	75937687	+	Silent	SNP	G	G	C			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr4:75937687G>C	ENST00000307428.7	+	2	308	c.96G>C	c.(94-96)ccG>ccC	p.P32P	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	32					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TTTCTCTTCCGACAAACATTG	0.488																																																0																																										SO:0001819	synonymous_variant	25849			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.96G>C	chr4.hg19:g.75937687G>C			B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	ENST00000307428.7	hg19	CCDS47077.1																																																																																				0.488	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		C	75937687	G	C	75937687	2	2	618	1	0	0	0	0	0	0	0	1	11454	1045	37	4		4	PARM1	4	75937687	Silent	SNP	G	TCGA-DW-5561-01A-01D-1589-08		75937687	115216589	12	33671											
ENPEP	2028	hgsc.bcm.edu	37	4	111397845	111397845	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr4:111397845G>A	ENST00000265162.5	+	1	617	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	92					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		AAAAACTTTCGACTGCCGGAC	0.612																																																0													75	80	78					4																	111397845		2203	4300	6503	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.275G>A	chr4.hg19:g.111397845G>A	ENSP00000265162:p.Arg92Gln		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	hg19	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865651	0.71949	.	.	ENSG00000138792	ENST00000265162	T	0.03181	4.02	5.83	5.83	0.93111	.	0.098719	0.64402	D	0.000003	T	0.23210	0.0561	M	0.89785	3.06	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.00599	-1.1651	10	0.87932	D	0	.	14.2874	0.66254	0.0708:0.0:0.9292:0.0	.	92	Q07075	AMPE_HUMAN	Q	92	ENSP00000265162:R92Q	ENSP00000265162:R92Q	R	+	2	0	ENPEP	111617294	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	7.579000	0.82511	2.758000	0.94735	0.561000	0.74099	CGA		0.612	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			A	111397845	G	A	111397845	3	1	618	1	0	0	0	0	1	0	0	0	5130	1058	37	1	277	1	ENPEP	4	111397845	Missense_Mutation	SNP	G	TCGA-DW-5561-01A-01D-1589-08	35460158	111397845	79756431	13	33672											
ADCY2	108	hgsc.bcm.edu	37	5	7820695	7820695	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr5:7820695G>A	ENST00000338316.4	+	24	3105	c.3016G>A	c.(3016-3018)Gtg>Atg	p.V1006M	ADCY2_ENST00000537121.1_Missense_Mutation_p.V826M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1006					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCATGGACCTGTGATAGCTGG	0.428																																																0													107	95	99					5																	7820695		2203	4300	6503	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3016G>A	chr5.hg19:g.7820695G>A	ENSP00000342952:p.Val1006Met		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	hg19	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632738	0.87660	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.48522	0.81;0.81	5.19	5.19	0.71726	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88857	0.3323	10	0.87932	D	0	.	18.7434	0.91782	0.0:0.0:1.0:0.0	.	826;1006	B7Z2C1;Q08462	.;ADCY2_HUMAN	M	1006;839;826	ENSP00000342952:V1006M;ENSP00000444803:V826M	ENSP00000342952:V1006M	V	+	1	0	ADCY2	7873695	1.000000	0.71417	0.968000	0.41197	0.900000	0.52787	9.565000	0.98154	2.430000	0.82344	0.655000	0.94253	GTG		0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		A	7820695	G	A	7820695	3	1	618	1	0	0	0	0	1	0	0	0	294	1377	48	2	3110	2	ADCY2	5	7820695	Missense_Mutation	SNP	G	TCGA-DW-5561-01A-01D-1589-08		7820695	173094565	14	33673											
CMBL	134147	hgsc.bcm.edu	37	5	10288604	10288609	+	In_Frame_Del	DEL	AAGGCT	AAGGCT	-			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	AAGGCT	AAGGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr5:10288604_10288609delAAGGCT	ENST00000296658.3	-	3	668_673	c.248_253delAGCCTT	c.(247-255)gagccttgg>ggg	p.83_85EPW>G	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	83						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						GAGGGGTCCCAAGGCTCTTGCCCTAC	0.456																																																0																																										SO:0001651	inframe_deletion	134147				CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"carboxymethylenebutenolidase-like (Pseudomonas)"			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.248_253delAGCCTT	chr5.hg19:g.10288604_10288609delAAGGCT	ENSP00000296658:p.Glu83_Trp85delinsGly		D3DTC7|Q8TED6	In_Frame_Del	DEL	ENST00000296658.3	hg19	CCDS3878.1																																																																																				0.456	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		-	10288609	AAGGCT	-	10288604	7	5	618	1	0	1	0	1	0	0	0	0	3578	130	5	0	500	0	CMBL	5	10288604	In_Frame_Del	DEL	AAGGCT	TCGA-DW-5561-01A-01D-1589-08	2467909	10288604	170626656	15	33674											
RPS14	6208	hgsc.bcm.edu	37	5	149827271	149827271	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr5:149827271T>C	ENST00000401695.3	-	2	72	c.26A>G	c.(25-27)aAg>aGg	p.K9R	RPS14_ENST00000407193.1_Missense_Mutation_p.K9R|RPS14_ENST00000312037.5_Missense_Mutation_p.K9R			P62263	RS14_HUMAN	ribosomal protein S14	9					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTTCCTTCTTTTCCTTCCC	0.443																																																0													125	111	116					5																	149827271		2203	4300	6503	SO:0001583	missense	6208				CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"S ribosomal proteins"	10387	protein-coding gene	gene with protein product	"emetine resistance", "40S ribosomal protein S14"	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.26A>G	chr5.hg19:g.149827271T>C	ENSP00000385958:p.Lys9Arg		B2R5G5|D3DQG5|P06366|Q5BJI0	Missense_Mutation	SNP	ENST00000401695.3	hg19	CCDS4307.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142739	0.57044	.	.	ENSG00000164587	ENST00000401695;ENST00000407193;ENST00000521466;ENST00000312037	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	N	0.22421	0.69	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28332	-1.0047	9	0.23891	T	0.37	.	15.1102	0.72349	0.0:0.0:0.0:1.0	.	9	P62263	RS14_HUMAN	R	9	.	ENSP00000311028:K9R	K	-	2	0	RPS14	149807464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.023000	0.59567	0.455000	0.32223	AAG		0.443	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252373.1	NM_001025071		C	149827271	T	C	149827271	3	2	618	1	0	0	0	0	1	0	0	0	13630	1609	56	3	445	3	RPS14	5	149827271	Missense_Mutation	SNP	T	TCGA-DW-5561-01A-01D-1589-08	139538667	149827271	31087989	16	33675											
CPEB4	80315	hgsc.bcm.edu	37	5	173317605	173317605	+	Frame_Shift_Del	DEL	G	G	-	rs372054497		TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr5:173317605delG	ENST00000265085.5	+	1	2323	c.869delG	c.(868-870)agtfs	p.S290fs	CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.S290fs|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.S290fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.S290fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	290					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGCTACCAGAGTCCGTCACCA	0.572																																																0													148	161	157					5																	173317605		2203	4300	6503	SO:0001589	frameshift_variant	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.869delG	chr5.hg19:g.173317605delG	ENSP00000265085:p.Ser290fs		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Frame_Shift_Del	DEL	ENST00000265085.5	hg19	CCDS4390.1																																																																																				0.572	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		-	173317605	G	-	173317605	7	5	618	1	0	1	0	1	0	0	0	0	3805	1029	36	0	871	0	CPEB4	5	173317605	Frame_Shift_Del	DEL	G	TCGA-DW-5561-01A-01D-1589-08	23490334	173317605	7597655	17	33676											
PRPF4B	8899	hgsc.bcm.edu	37	6	4047415	4047415	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr6:4047415C>G	ENST00000337659.6	+	7	1968	c.1868C>G	c.(1867-1869)tCt>tGt	p.S623C	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S609C	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	623					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TAAGGTTCATCTCAGAAGAAG	0.284																																																0													154	146	148					6																	4047415		2202	4298	6500	SO:0001583	missense	8899			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1868C>G	chr6.hg19:g.4047415C>G	ENSP00000337194:p.Ser623Cys		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	hg19	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572647	0.65765	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.68479	-0.33;-0.32	5.51	4.63	0.57726	.	0.380183	0.25372	N	0.031153	T	0.31167	0.0788	N	0.14661	0.345	0.34271	D	0.681056	B	0.20164	0.042	B	0.21917	0.037	T	0.19582	-1.0301	10	0.51188	T	0.08	.	9.3135	0.37919	0.1456:0.7823:0.0:0.0721	.	623	Q13523	PRP4B_HUMAN	C	623;609	ENSP00000337194:S623C;ENSP00000439331:S609C	ENSP00000337194:S623C	S	+	2	0	PRPF4B	3992414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.825000	0.48096	1.424000	0.47217	0.650000	0.86243	TCT		0.284	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			G	4047415	C	G	4047415	3	3	618	1	0	0	0	0	1	0	0	0	12578	913	32	4	1894	4	PRPF4B	6	4047415	Missense_Mutation	SNP	C	TCGA-DW-5561-01A-01D-1589-08		4047415	167067652	18	33677											
KCND2	3751	hgsc.bcm.edu	37	7	119915491	119915491	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr7:119915491G>T	ENST00000331113.4	+	1	1770	c.805G>T	c.(805-807)Gcc>Tcc	p.A269S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	269					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CGACGTGGTGGCCATCCTGCC	0.512																																																0													172	142	152					7																	119915491		2203	4300	6503	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.805G>T	chr7.hg19:g.119915491G>T	ENSP00000333496:p.Ala269Ser		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	hg19	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348475	0.82132	.	.	ENSG00000184408	ENST00000331113	D	0.98493	-4.96	5.27	5.27	0.74061	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	N	0.16166	0.38	0.80722	D	1	P	0.46578	0.88	P	0.57620	0.824	D	0.96477	0.9353	9	.	.	.	.	19.2668	0.93990	0.0:0.0:1.0:0.0	.	269	Q9NZV8	KCND2_HUMAN	S	269	ENSP00000333496:A269S	.	A	+	1	0	KCND2	119702727	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.636000	0.89361	0.557000	0.71058	GCC		0.512	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		T	119915491	G	T	119915491	3	4	618	1	0	0	0	0	1	0	0	0	8021	1203	42	4	807	4	KCND2	7	119915491	Missense_Mutation	SNP	G	TCGA-DW-5561-01A-01D-1589-08		119915491	39223172	19	33678											
CDKN2B	1030	hgsc.bcm.edu	37	9	22006244	22006244	+	Silent	SNP	G	G	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr9:22006244G>A	ENST00000276925.6	-	2	568	c.159C>T	c.(157-159)gtC>gtT	p.V53V	CDKN2B-AS1_ENST00000582072.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000584637.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	53					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CCATCATCATGACCTGCCAGA	0.647																																																2	Whole gene deletion(2)	lung(2)											14	17	16					9																	22006244		2175	4259	6434	SO:0001819	synonymous_variant	1030			AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.159C>T	chr9.hg19:g.22006244G>A			O15125|Q6FI09	Silent	SNP	ENST00000276925.6	hg19	CCDS6512.1																																																																																				0.647	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2	NM_004936		A	22006244	G	A	22006244	2	1	618	1	0	0	0	0	0	0	0	1	3166	1277	45	2		2	CDKN2B	9	22006244	Silent	SNP	G	TCGA-DW-5561-01A-01D-1589-08		22006244	119207187	20	33679											
NIPSNAP3B	55335	hgsc.bcm.edu	37	9	107531256	107531256	+	Silent	SNP	T	T	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr9:107531256T>A	ENST00000374762.3	+	3	455	c.384T>A	c.(382-384)atT>atA	p.I128I	NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	128										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AGACGGAAATTACTTACCTGA	0.383																																																0													79	76	77					9																	107531256		2203	4300	6503	SO:0001819	synonymous_variant	55335			BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.384T>A	chr9.hg19:g.107531256T>A			Q5VX30|Q9NUM2	Silent	SNP	ENST00000374762.3	hg19	CCDS6761.1																																																																																				0.383	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	NM_018376		A	107531256	T	A	107531256	2	1	618	1	0	0	0	0	0	0	0	1	10433	1742	61	5		5	NIPSNAP3B	9	107531256	Silent	SNP	T	TCGA-DW-5561-01A-01D-1589-08	85525012	107531256	33682175	21	33680											
CEP110	11064	hgsc.bcm.edu	37	9	123888062	123888062	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr9:123888062C>A	ENST00000373855.1	+	14	2133	c.1873C>A	c.(1873-1875)Ctg>Atg	p.L625M	CNTRL_ENST00000373847.1_Missense_Mutation_p.L73M|CNTRL_ENST00000238341.5_Missense_Mutation_p.L625M|CNTRL_ENST00000373850.1_Missense_Mutation_p.L73M			Q7Z7A1	CNTRL_HUMAN	centriolin	625					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCAAGAATACCTGGGGACCAT	0.458																																																0													120	123	122					9																	123888062		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1873C>A	chr9.hg19:g.123888062C>A	ENSP00000362962:p.Leu625Met		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	hg19	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944003	0.73672	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.65549	0.25;0.25;-0.16;0.05	5.59	4.69	0.59074	.	.	.	.	.	T	0.69214	0.3086	L	0.34521	1.04	0.37252	D	0.906593	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.997	T	0.74237	-0.3730	9	0.51188	T	0.08	.	13.301	0.60326	0.0:0.9245:0.0:0.0755	.	625;625;625	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	M	625;625;625;107;73;73	ENSP00000362962:L625M;ENSP00000238341:L625M;ENSP00000362956:L73M;ENSP00000362953:L73M	ENSP00000238341:L625M	L	+	1	2	CNTRL	122927883	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.004000	0.40854	1.349000	0.45751	0.650000	0.86243	CTG		0.458	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		A	123888062	C	A	123888062	3	1	618	1	0	0	0	0	1	0	0	0	3247	680	24	4	1919	4	CEP110	9	123888062	Missense_Mutation	SNP	C	TCGA-DW-5561-01A-01D-1589-08	16356806	123888062	17325369	22	33681											
C10orf95	79946	hgsc.bcm.edu	37	10	104211148	104211149	+	Frame_Shift_Ins	INS	-	-	C	rs144830667		TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr10:104211148_104211149insC	ENST00000239125.1	-	1	151_152	c.77_78insG	c.(76-78)ggafs	p.G26fs	RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000492465.2_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	26										liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		CTCACTTGTCTCCTTCAGCCTT	0.639																																																0																																										SO:0001589	frameshift_variant	79946			AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.78dupG	chr10.hg19:g.104211150_104211150dupC	ENSP00000239125:p.Gly26fs		A0AVQ7	Frame_Shift_Ins	INS	ENST00000239125.1	hg19	CCDS7534.1																																																																																				0.639	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050065.1	NM_024886		C	104211149	-	C	104211148	7	5	618	1	0	1	1	0	0	0	0	0	1628	1538	54	0	703	0	C10orf95	10	104211148	Frame_Shift_Ins	INS	-	TCGA-DW-5561-01A-01D-1589-08		104211148	31323599	23	33682											
OR4A16	81327	hgsc.bcm.edu	37	11	55110797	55110797	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr11:55110797C>T	ENST00000314721.2	+	1	171	c.121C>T	c.(121-123)Ctc>Ttc	p.L41F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGTGGGAAACCTCCTCATTTG	0.428																																																0													122	115	117					11																	55110797		2201	4296	6497	SO:0001583	missense	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.121C>T	chr11.hg19:g.55110797C>T	ENSP00000325128:p.Leu41Phe		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	hg19	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	7.100	0.573809	0.13623	.	.	ENSG00000181961	ENST00000314721	T	0.00438	7.42	2.41	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	L	0.55017	1.72	0.09310	N	0.999999	D	0.57899	0.981	D	0.63597	0.916	T	0.56938	-0.7896	9	0.37606	T	0.19	.	6.7077	0.23260	0.0:0.8361:0.0:0.1639	.	41	Q8NH70	O4A16_HUMAN	F	41	ENSP00000325128:L41F	ENSP00000325128:L41F	L	+	1	0	OR4A16	54867373	0.000000	0.05858	0.772000	0.31596	0.023000	0.10783	-0.898000	0.04105	1.353000	0.45828	0.185000	0.17295	CTC		0.428	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		T	55110797	C	T	55110797	3	4	618	1	0	0	0	0	1	0	0	0	11043	681	24	2	123	2	OR4A16	11	55110797	Missense_Mutation	SNP	C	TCGA-DW-5561-01A-01D-1589-08		55110797	79895719	24	33683											
ETS1	2113	hgsc.bcm.edu	37	11	128360461	128360461	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr11:128360461A>T	ENST00000319397.6	-	2	402	c.93T>A	c.(91-93)tgT>tgA	p.C31*	ETS1_ENST00000345075.4_Nonsense_Mutation_p.C31*|ETS1_ENST00000531611.1_Nonsense_Mutation_p.C31*|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000392668.4_Nonsense_Mutation_p.C75*|ETS1_ENST00000526145.2_Nonsense_Mutation_p.C31*	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	31					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GGACATCTGCACATTCCATAT	0.363																																																0													110	104	106					11																	128360461		2201	4297	6498	SO:0001587	stop_gained	2113				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.93T>A	chr11.hg19:g.128360461A>T	ENSP00000324578:p.Cys31*		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Nonsense_Mutation	SNP	ENST00000319397.6	hg19	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	A	38	6.929848	0.97944	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	.	.	.	5.65	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	9.4666	0.38817	0.796:0.0:0.204:0.0	.	.	.	.	X	31;75;31;31;31	.	ENSP00000324578:C31X	C	-	3	2	ETS1	127865671	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.583000	0.36579	0.084000	0.17077	-0.376000	0.06991	TGT		0.363	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		T	128360461	A	T	128360461	4	4	618	1	0	0	0	0	0	1	0	0	5277	157	6	5	1260	5	ETS1	11	128360461	Nonsense_Mutation	SNP	A	TCGA-DW-5561-01A-01D-1589-08	73249664	128360461	6646055	25	33684											
SLC6A13	6540	hgsc.bcm.edu	37	12	335609	335609	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr12:335609A>G	ENST00000343164.4	-	9	1059	c.1007T>C	c.(1006-1008)cTg>cCg	p.L336P	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Missense_Mutation_p.L244P	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	336					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CATGAAGCCCAGGATGGAGAA	0.622																																																0													64	58	60					12																	335609		2203	4300	6503	SO:0001583	missense	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1007T>C	chr12.hg19:g.335609A>G	ENSP00000339260:p.Leu336Pro		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	hg19	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496459	0.85069	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	D;D	0.83075	-1.68;-1.68	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	H	0.99634	4.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.996	D	0.97664	1.0162	10	0.87932	D	0	.	15.3028	0.73966	1.0:0.0:0.0:0.0	.	244;315;336	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	P	244;315;336	ENSP00000407104:L244P;ENSP00000339260:L336P	ENSP00000318097:L315P	L	-	2	0	SLC6A13	205870	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.260000	0.95568	2.010000	0.58986	0.402000	0.26972	CTG		0.622	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		G	335609	A	G	335609	3	3	618	1	0	0	0	0	1	0	0	0	14682	188	7	3	829	3	SLC6A13	12	335609	Missense_Mutation	SNP	A	TCGA-DW-5561-01A-01D-1589-08		335609	133516286	26	33685											
GAPDH	2597	hgsc.bcm.edu	37	12	6646478	6646485	+	Frame_Shift_Del	DEL	TGCCTCCT	TGCCTCCT	-			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	TGCCTCCT	TGCCTCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr12:6646478_6646485delTGCCTCCT	ENST00000229239.5	+	7	1113_1120	c.447_454delTGCCTCCT	c.(445-456)aatgcctcctgcfs	p.NASC149fs	GAPDH_ENST00000396856.1_Frame_Shift_Del_p.NASC74fs|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Frame_Shift_Del_p.NASC149fs|GAPDH_ENST00000396859.1_Frame_Shift_Del_p.NASC149fs|GAPDH_ENST00000396858.1_Frame_Shift_Del_p.NASC107fs	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	149					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						TTTGCAGCAATGCCTCCTGCACCACCAA	0.596																																																0																																										SO:0001589	frameshift_variant	2597			AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.447_454delTGCCTCCT	chr12.hg19:g.6646478_6646485delTGCCTCCT	ENSP00000229239:p.Asn149fs		E7EUT4|P00354|Q53X65	Frame_Shift_Del	DEL	ENST00000229239.5	hg19	CCDS8549.1																																																																																				0.596	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		-	6646485	TGCCTCCT	-	6646478	7	5	618	1	0	1	0	1	0	0	0	0	6238	1461	51	0	469	0	GAPDH	12	6646478	Frame_Shift_Del	DEL	TGCCTCCT	TCGA-DW-5561-01A-01D-1589-08	6310869	6646478	127205417	27	33686											
TAS2R20	259295	hgsc.bcm.edu	37	12	11150353	11150353	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr12:11150353A>T	ENST00000538986.1	-	1	121	c.122T>A	c.(121-123)aTc>aAc	p.I41N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	41					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGCTGAGGAGATCTTTTGTCT	0.378																																																0													42	47	45					12																	11150353		2203	4300	6503	SO:0001583	missense	259295			AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.122T>A	chr12.hg19:g.11150353A>T	ENSP00000441624:p.Ile41Asn		P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	hg19	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174148	0.38413	.	.	ENSG00000255837	ENST00000538986	T	0.00966	5.49	2.77	2.77	0.32553	.	2.834990	0.02303	U	0.071363	T	0.10252	0.0251	H	0.95437	3.67	0.09310	N	1	D	0.67145	0.996	D	0.75020	0.985	T	0.13469	-1.0508	10	0.87932	D	0	.	8.9683	0.35890	1.0:0.0:0.0:0.0	.	41	P59543	T2R20_HUMAN	N	41	ENSP00000441624:I41N	ENSP00000441624:I41N	I	-	2	0	TAS2R20	11041620	0.002000	0.14202	0.015000	0.15790	0.002000	0.02628	1.473000	0.35387	1.279000	0.44446	0.482000	0.46254	ATC		0.378	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		T	11150353	A	T	11150353	3	4	618	1	0	0	0	0	1	0	0	0	15576	333	12	5	811	5	TAS2R20	12	11150353	Missense_Mutation	SNP	A	TCGA-DW-5561-01A-01D-1589-08	4503875	11150353	122701542	28	33687											
TBC1D15	64786	hgsc.bcm.edu	37	12	72288466	72288466	+	Splice_Site	SNP	A	A	T			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr12:72288466A>T	ENST00000550746.1	+	8	773	c.709A>T	c.(709-711)Aaa>Taa	p.K237*	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000319106.8_Splice_Site_p.K228*|TBC1D15_ENST00000485960.2_Splice_Site_p.K220*	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	237					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TACTGCATAGAAAATTAAAAA	0.323																																																0													39	42	41					12																	72288466		2199	4297	6496	SO:0001630	splice_region_variant	64786			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.709-1A>T	chr12.hg19:g.72288466A>T			B4DMT9|B9A6L6|J3KNI9|Q9HA83	Nonsense_Mutation	SNP	ENST00000550746.1	hg19	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	A	37	6.212367	0.97380	.	.	ENSG00000121749	ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.4381	15.2064	0.73183	1.0:0.0:0.0:0.0	.	.	.	.	X	237;121;228;220	.	.	K	+	1	0	TBC1D15	70574733	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.336000	0.96533	1.999000	0.58509	0.473000	0.43528	AAA		0.323	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	Nonsense_Mutation	T	72288466	A	T	72288466	5	4	618	1	0	0	0	0	0	0	1	0	15609	260	9	5	863	5	TBC1D15	12	72288466	Splice_Site	SNP	A	TCGA-DW-5561-01A-01D-1589-08	61138113	72288466	61563429	29	33688											
GALNT4	8693	hgsc.bcm.edu	37	12	89918277	89918277	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr12:89918277A>C	ENST00000529983.2	-	1	306	c.50T>G	c.(49-51)tTt>tGt	p.F17C	POC1B-GALNT4_ENST00000547474.1_Intron|GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000548729.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	17					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CACTGTTAAAAACGCCAGCAG	0.617											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													27	30	29					12																	89918277		1943	4137	6080	SO:0001583	missense	8693			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.50T>G	chr12.hg19:g.89918277A>C	ENSP00000436604:p.Phe17Cys	1271	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	hg19	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054156	0.36277	.	.	ENSG00000257594	ENST00000529983	T	0.54071	0.59	5.68	1.85	0.25348	.	.	.	.	.	T	0.30135	0.0755	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16630	-1.0396	8	.	.	.	.	6.3543	0.21393	0.7004:0.1382:0.1614:0.0	.	17	Q8N4A0	GALT4_HUMAN	C	17	ENSP00000436604:F17C	.	F	-	2	0	GALNT4	88442408	0.499000	0.26083	0.374000	0.26016	0.715000	0.41141	3.427000	0.52785	0.991000	0.38814	0.482000	0.46254	TTT		0.617	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		C	89918277	A	C	89918277	3	2	618	1	0	0	0	0	1	0	0	0	6217	14	1	5	1690	5	GALNT4	12	89918277	Missense_Mutation	SNP	A	TCGA-DW-5561-01A-01D-1589-08	17629811	89918277	43933618	30	33689											
SLC7A1	6541	hgsc.bcm.edu	37	13	30091728	30091728	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr13:30091728T>C	ENST00000380752.5	-	10	1878	c.1492A>G	c.(1492-1494)Att>Gtt	p.I498V	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	498					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGGTTGAAATGTTCACAATT	0.498																																																0													158	156	156					13																	30091728		2203	4300	6503	SO:0001583	missense	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1492A>G	chr13.hg19:g.30091728T>C	ENSP00000370128:p.Ile498Val		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	hg19	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	T	2.607	-0.291568	0.05568	.	.	ENSG00000139514	ENST00000380752	D	0.85861	-2.04	5.24	-1.65	0.08291	.	0.538057	0.20369	N	0.093684	T	0.69459	0.3113	N	0.17312	0.475	0.41573	D	0.988693	B	0.02656	0.0	B	0.04013	0.001	T	0.52859	-0.8519	10	0.17369	T	0.5	.	12.2085	0.54365	0.0:0.4844:0.0:0.5156	.	498	P30825	CTR1_HUMAN	V	498	ENSP00000370128:I498V	ENSP00000370128:I498V	I	-	1	0	SLC7A1	28989728	0.018000	0.18449	0.984000	0.44739	0.561000	0.35649	-0.909000	0.04058	-0.145000	0.11294	-0.264000	0.10439	ATT		0.498	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		C	30091728	T	C	30091728	3	2	618	1	0	0	0	0	1	0	0	0	14698	1464	51	3	413	3	SLC7A1	13	30091728	Missense_Mutation	SNP	T	TCGA-DW-5561-01A-01D-1589-08		30091728	85078150	31	33690											
TRIP4	9325	hgsc.bcm.edu	37	15	64702017	64702017	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr15:64702017T>C	ENST00000261884.3	+	7	1093	c.1033T>C	c.(1033-1035)Tat>Cat	p.Y345H		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	345					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						ACTAGCAGAGTATCATAGCAG	0.428																																																0													77	77	77					15																	64702017		2203	4300	6503	SO:0001583	missense	9325			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"-"	12310	protein-coding gene	gene with protein product	"zinc finger, C2HC5-type"	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1033T>C	chr15.hg19:g.64702017T>C	ENSP00000261884:p.Tyr345His		B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	hg19	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668883	0.67814	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.74805	-0.3540	9	0.17369	T	0.5	-24.5764	16.1616	0.81721	0.0:0.0:0.0:1.0	.	345	Q15650	TRIP4_HUMAN	H	345	.	ENSP00000261884:Y345H	Y	+	1	0	TRIP4	62489070	1.000000	0.71417	0.980000	0.43619	0.327000	0.28475	7.628000	0.83189	2.221000	0.72209	0.454000	0.30748	TAT		0.428	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		C	64702017	T	C	64702017	3	2	618	1	0	0	0	0	1	0	0	0	16563	1638	57	3	1059	3	TRIP4	15	64702017	Missense_Mutation	SNP	T	TCGA-DW-5561-01A-01D-1589-08		64702017	37829375	32	33691											
ADCY9	115	hgsc.bcm.edu	37	16	4165346	4165346	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr16:4165346T>G	ENST00000294016.3	-	2	636	c.98A>C	c.(97-99)aAc>aCc	p.N33T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	33					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGCTTGGGGTTGATCTTGAC	0.637																																																0													91	66	75					16																	4165346		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.98A>C	chr16.hg19:g.4165346T>G	ENSP00000294016:p.Asn33Thr		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	hg19	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	T	7.635	0.679628	0.14907	.	.	ENSG00000162104	ENST00000294016	T	0.27402	1.67	4.98	3.87	0.44632	.	0.478928	0.24490	N	0.038068	T	0.23094	0.0558	L	0.34521	1.04	0.37612	D	0.920957	B	0.23442	0.085	B	0.16289	0.015	T	0.07501	-1.0769	10	0.49607	T	0.09	.	11.1518	0.48464	0.0:0.0:0.1549:0.8451	.	33	O60503	ADCY9_HUMAN	T	33	ENSP00000294016:N33T	ENSP00000294016:N33T	N	-	2	0	ADCY9	4105347	1.000000	0.71417	0.997000	0.53966	0.064000	0.16182	4.786000	0.62425	0.728000	0.32382	-0.477000	0.04895	AAC		0.637	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			G	4165346	T	G	4165346	3	3	618	1	0	0	0	0	1	0	0	0	301	1725	60	5	4003	5	ADCY9	16	4165346	Missense_Mutation	SNP	T	TCGA-DW-5561-01A-01D-1589-08		4165346	86189407	33	33692											
SUPT6H	6830	hgsc.bcm.edu	37	17	27002076	27002076	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr17:27002076T>C	ENST00000314616.6	+	5	717	c.434T>C	c.(433-435)aTt>aCt	p.I145T	SUPT6H_ENST00000347486.4_Missense_Mutation_p.I145T|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	145	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAAGAAGCTATTGCGGAAGAA	0.527																																																0													86	80	82					17																	27002076		2203	4300	6503	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.434T>C	chr17.hg19:g.27002076T>C	ENSP00000319104:p.Ile145Thr		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	hg19	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.186987	0.57909	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.75889	0.3911	M	0.79693	2.465	0.80722	D	1	P	0.50156	0.932	P	0.58520	0.84	T	0.73655	-0.3914	9	0.17832	T	0.49	-10.4269	15.9812	0.80111	0.0:0.0:0.0:1.0	.	145	Q7KZ85	SPT6H_HUMAN	T	145	.	ENSP00000319104:I145T	I	+	2	0	SUPT6H	24026203	1.000000	0.71417	0.995000	0.50966	0.833000	0.47200	7.328000	0.79160	2.178000	0.69098	0.533000	0.62120	ATT		0.527	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		C	27002076	T	C	27002076	3	2	618	1	0	0	0	0	1	0	0	0	15405	1493	52	3	448	3	SUPT6H	17	27002076	Missense_Mutation	SNP	T	TCGA-DW-5561-01A-01D-1589-08		27002076	54193134	34	33693											
SF3A2	8175	hgsc.bcm.edu	37	19	2248401	2248401	+	Silent	SNP	G	G	A	rs375562170	byFrequency	TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr19:2248401G>A	ENST00000221494.5	+	9	1669	c.1251G>A	c.(1249-1251)tcG>tcA	p.S417S	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	417	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATCCGTCGGCTCCTGGGG	0.711													G|||	6	0.00119808	0.0045	0.0	5008	,	,		7987	0.0		0.0	False		,,,				2504	0.0															0								G		29,3801		0,29,1886	5	6	6		1251	-3.8	0.1	19		6	0,8044		0,0,4022	no	coding-synonymous	SF3A2	NM_007165.4		0,29,5908	AA,AG,GG		0.0,0.7572,0.2442		417/465	2248401	29,11845	1915	4022	5937	SO:0001819	synonymous_variant	8175			L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1251G>A	chr19.hg19:g.2248401G>A			B2RBU1|D6W605|O75245	Silent	SNP	ENST00000221494.5	hg19	CCDS12084.1																																																																																				0.711	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			A	2248401	G	A	2248401	2	1	618	1	0	0	0	0	0	0	0	1	14153	1103	39	1		1	SF3A2	19	2248401	Silent	SNP	G	TCGA-DW-5561-01A-01D-1589-08		2248401	56880582	35	33694											
NDUFB7	4713	hgsc.bcm.edu	37	19	14677078	14677078	+	Splice_Site	SNP	C	C	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr19:14677078C>A	ENST00000215565.2	-	3	343		c.e3-1			NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa						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)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CATCACATAGCTGGGGGAAAA	0.667																																																0													38	42	40					19																	14677078		2202	4300	6502	SO:0001630	splice_region_variant	4713				CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"Mitochondrial respiratory chain complex / Complex I"	7702	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase B18 subunit", "complex I B18 subunit"	603842	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.282-1G>T	chr19.hg19:g.14677078C>A			Q6ICN9|Q9UI16	Splice_Site	SNP	ENST00000215565.2	hg19	CCDS12314.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190561	0.58017	.	.	ENSG00000099795	ENST00000215565	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4537	0.84003	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NDUFB7	14538078	1.000000	0.71417	0.999000	0.59377	0.454000	0.32378	7.184000	0.77705	2.493000	0.84123	0.460000	0.39030	.		0.667	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466025.1	NM_004146	Intron	A	14677078	C	A	14677078	5	1	618	1	0	0	0	0	0	0	1	0	10288	811	28	4	136	4	NDUFB7	19	14677078	Splice_Site	SNP	C	TCGA-DW-5561-01A-01D-1589-08	12428677	14677078	44451905	36	33695											
ZNF681	148213	hgsc.bcm.edu	37	19	23927477	23927484	+	Frame_Shift_Del	DEL	TTAAAGGC	TTAAAGGC	-			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	TTAAAGGC	TTAAAGGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr19:23927477_23927484delTTAAAGGC	ENST00000402377.3	-	4	1009_1016	c.868_875delGCCTTTAA	c.(868-876)gcctttaatfs	p.AFN290fs	ZNF681_ENST00000395385.3_Frame_Shift_Del_p.AFN221fs	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAAGGACTGATTAAAGGCTTTGTCACAT	0.375																																																0																																										SO:0001589	frameshift_variant	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.868_875delGCCTTTAA	chr19.hg19:g.23927477_23927484delTTAAAGGC	ENSP00000384000:p.Ala290fs		B3KVF7	Frame_Shift_Del	DEL	ENST00000402377.3	hg19	CCDS12414.2																																																																																				0.375	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		-	23927484	TTAAAGGC	-	23927477	7	5	618	1	0	1	0	1	0	0	0	0	18093	1493	52	0	1066	0	ZNF681	19	23927477	Frame_Shift_Del	DEL	TTAAAGGC	TCGA-DW-5561-01A-01D-1589-08	9250399	23927477	35201506	37	33696											
SFRS6	6431	hgsc.bcm.edu	37	20	42087023	42087023	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr20:42087023G>A	ENST00000244020.3	+	2	236	c.130G>A	c.(130-132)Gac>Aac	p.D44N		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	44	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.D44N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GGAGTTCGAGGACTCCCGCGA	0.716																																																1	Substitution - Missense(1)	lung(1)											8	7	8					20																	42087023		2096	4170	6266	SO:0001583	missense	6431			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.130G>A	chr20.hg19:g.42087023G>A	ENSP00000244020:p.Asp44Asn		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	hg19	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.719681	0.89205	.	.	ENSG00000124193	ENST00000244020	T	0.75050	-0.9	3.59	3.59	0.41128	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.054648	0.64402	D	0.000001	T	0.79581	0.4470	L	0.43598	1.365	0.80722	D	1	D;D	0.65815	0.995;0.986	D;P	0.63597	0.916;0.838	T	0.82418	-0.0467	10	0.87932	D	0	.	14.2003	0.65699	0.0:0.0:1.0:0.0	.	44;44	Q13247;A8K588	SRSF6_HUMAN;.	N	44	ENSP00000244020:D44N	ENSP00000244020:D44N	D	+	1	0	SRSF6	41520437	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	8.758000	0.91663	1.838000	0.53458	0.552000	0.68991	GAC		0.716	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		A	42087023	G	A	42087023	3	1	618	1	0	0	0	0	1	0	0	0	14187	1174	41	2	136	2	SFRS6	20	42087023	Missense_Mutation	SNP	G	TCGA-DW-5561-01A-01D-1589-08		42087023	20938497	38	33697											
SEC14L4	284904	hgsc.bcm.edu	37	22	30891293	30891293	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr22:30891293C>T	ENST00000255858.7	-	5	454	c.371G>A	c.(370-372)cGc>cAc	p.R124H	RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.R124H|SEC14L4_ENST00000392772.2_Missense_Mutation_p.R70H|SEC14L4_ENST00000540456.1_Missense_Mutation_p.R109H|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	124	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.		R -> G (in dbSNP:rs9606739).			integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GACTTTGATGCGCTTCCGGAT	0.572																																																0													72	62	65					22																	30891293		2203	4300	6503	SO:0001583	missense	284904			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.371G>A	chr22.hg19:g.30891293C>T	ENSP00000255858:p.Arg124His		A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	hg19	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	c	18.44	3.623875	0.66901	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	4.9	2.77	0.32553	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.077270	0.52532	D	0.000077	T	0.65954	0.2741	N	0.16790	0.44	0.80722	D	1	D;D;D	0.65815	0.991;0.995;0.985	P;P;P	0.61397	0.871;0.888;0.75	T	0.60796	-0.7192	10	0.14252	T	0.57	-11.5328	5.6156	0.17430	0.0:0.6061:0.0:0.3939	.	70;109;124	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	H	124;109;70;124	ENSP00000255858:R124H;ENSP00000440848:R109H;ENSP00000376525:R70H;ENSP00000371412:R124H	ENSP00000255858:R124H	R	-	2	0	SEC14L4	29221293	0.996000	0.38824	0.131000	0.22000	0.495000	0.33615	2.090000	0.41682	1.169000	0.42739	0.655000	0.94253	CGC		0.572	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		T	30891293	C	T	30891293	3	4	618	1	0	0	0	0	1	0	0	0	13990	768	27	1	887	1	SEC14L4	22	30891293	Missense_Mutation	SNP	C	TCGA-DW-5561-01A-01D-1589-08		30891293	20413273	39	33698											
YWHAH	7533	hgsc.bcm.edu	37	22	32352660	32352660	+	Silent	SNP	C	C	T			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chr22:32352660C>T	ENST00000248975.5	+	2	895	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	208					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CATAGCTGAGCTGGACACACT	0.527																																					Ovarian(98;460 2060 9263 44007)											0													72	55	61					22																	32352660		2203	4300	6503	SO:0001819	synonymous_variant	7533			X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"14-3-3 eta"	113508	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.622C>T	chr22.hg19:g.32352660C>T				Silent	SNP	ENST00000248975.5	hg19	CCDS13901.1																																																																																				0.527	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		T	32352660	C	T	32352660	2	4	618	1	0	0	0	0	0	0	0	1	17509	796	28	2		2	YWHAH	22	32352660	Silent	SNP	C	TCGA-DW-5561-01A-01D-1589-08	1461367	32352660	18951906	40	33699											
WNK3	65267	hgsc.bcm.edu	37	X	54319393	54319393	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-5561-01A-01D-1589-08	TCGA-DW-5561-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7722e078-7471-43c1-85f8-2a36938fe489	2c3eb624-d770-4d82-b225-1b58054242b7	g.chrX:54319393A>T	ENST00000375159.2	-	9	1964	c.1965T>A	c.(1963-1965)caT>caA	p.H655Q	WNK3_ENST00000354646.2_Missense_Mutation_p.H655Q|WNK3_ENST00000375169.3_Missense_Mutation_p.H655Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	655					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTCCAAGGACATGTACAGGTA	0.418																																																0													100	87	92					X																	54319393		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1965T>A	chrX.hg19:g.54319393A>T	ENSP00000364301:p.His655Gln		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	hg19	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	A	1.564	-0.535847	0.04082	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.42131	0.98;0.98;0.98	5.21	2.73	0.32206	.	0.631512	0.14072	N	0.343324	T	0.23054	0.0557	N	0.19112	0.55	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.10450	0.003;0.005	T	0.22312	-1.0220	10	0.22109	T	0.4	-0.9144	4.0626	0.09846	0.7167:0.0:0.1006:0.1826	.	655;655	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Q	655	ENSP00000364312:H655Q;ENSP00000346667:H655Q;ENSP00000364301:H655Q	ENSP00000346667:H655Q	H	-	3	2	WNK3	54336118	0.769000	0.28531	0.170000	0.22879	0.756000	0.42949	1.264000	0.33015	0.220000	0.20860	0.451000	0.29950	CAT		0.418	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		T	54319393	A	T	54319393	3	4	618	1	0	0	0	0	1	0	0	0	17384	214	8	5	3497	5	WNK3	23	54319393	Missense_Mutation	SNP	A	TCGA-DW-5561-01A-01D-1589-08		54319393	100951167	41	33700											
PEF1	553115	hgsc.bcm.edu	37	1	32100955	32100955	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:32100955C>A	ENST00000373703.4	-	2	215	c.193G>T	c.(193-195)Gga>Tga	p.G65*	PEF1_ENST00000440872.2_Nonsense_Mutation_p.G65*|PEF1_ENST00000492061.1_5'UTR	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	65	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TTGGGGTGTCCATAGGGCCCT	0.627																																																0													23	25	25					1																	32100955		2203	4299	6502	SO:0001587	stop_gained	553115				CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"EF-hand domain containing"	30009	protein-coding gene	gene with protein product	"peflin"	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.193G>T	chr1.hg19:g.32100955C>A	ENSP00000362807:p.Gly65*			Nonsense_Mutation	SNP	ENST00000373703.4	hg19	CCDS345.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384325	0.95967	.	.	ENSG00000162517	ENST00000373703;ENST00000440872	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	17.2908	0.87156	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000362807:G65X	G	-	1	0	PEF1	31873542	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	6.128000	0.71650	2.541000	0.85698	0.561000	0.74099	GGA		0.627	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011046.1	NM_012392		A	32100955	C	A	32100955	4	1	619	1	0	0	0	0	0	1	0	0	11720	603	21	4	677	4	PEF1	1	32100955	Nonsense_Mutation	SNP	C	TCGA-DW-7834-01A-11D-2136-08		32100955	217149666	1	33701											
DEDD	9191	hgsc.bcm.edu	37	1	161092019	161092019	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:161092019A>C	ENST00000368006.3	-	6	1089	c.875T>G	c.(874-876)cTg>cGg	p.L292R	DEDD_ENST00000490843.2_Missense_Mutation_p.L292R|DEDD_ENST00000392188.1_Missense_Mutation_p.L322R|DEDD_ENST00000458050.2_Missense_Mutation_p.L292R|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000368005.1_Missense_Mutation_p.L322R|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000545495.1_Missense_Mutation_p.L292R	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	292					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATTTACCAGCAGCTTGATGGC	0.498																																																0													100	93	95					1																	161092019		2203	4300	6503	SO:0001583	missense	9191			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"death effector domain-containing"			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.875T>G	chr1.hg19:g.161092019A>C	ENSP00000356985:p.Leu292Arg		D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	hg19	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.871963	0.72180	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.997;0.996	T	0.74948	-0.3490	9	0.87932	D	0	.	13.2065	0.59800	1.0:0.0:0.0:0.0	.	249;322;292	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	R	292;322;292;292;292;322;249	.	ENSP00000356984:L322R	L	-	2	0	DEDD	159358643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.209000	0.71365	0.533000	0.62120	CTG		0.498	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	NM_004216		C	161092019	A	C	161092019	3	2	619	1	0	0	0	0	1	0	0	0	4386	188	7	5	85	5	DEDD	1	161092019	Missense_Mutation	SNP	A	TCGA-DW-7834-01A-11D-2136-08	128991064	161092019	88158602	2	33702											
RGS1	5996	hgsc.bcm.edu	37	1	192547354	192547354	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:192547354G>C	ENST00000367459.3	+	4	349	c.283G>C	c.(283-285)Ggt>Cgt	p.G95R	RGS1_ENST00000469578.2_Missense_Mutation_p.G95R	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	95	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CTTTTTAGCTGGTCAAAATGT	0.343																																																0													122	130	127					1																	192547354		2203	4300	6503	SO:0001583	missense	5996			AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"Regulators of G-protein signaling"	9991	protein-coding gene	gene with protein product		600323	"regulator of G-protein signalling 1"	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.283G>C	chr1.hg19:g.192547354G>C	ENSP00000356429:p.Gly95Arg		B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	hg19	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365805	0.41902	.	.	ENSG00000090104	ENST00000367459	T	0.02944	4.1	5.91	5.91	0.95273	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.12319	-1.0552	10	0.87932	D	0	.	18.8649	0.92287	0.0:0.0:1.0:0.0	.	95;95	Q08116-2;Q08116	.;RGS1_HUMAN	R	95	ENSP00000356429:G95R	ENSP00000356429:G95R	G	+	1	0	RGS1	190813977	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.640000	0.83355	2.804000	0.96469	0.650000	0.86243	GGT		0.343	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		C	192547354	G	C	192547354	3	2	619	1	0	0	0	0	1	0	0	0	13298	1348	47	4	297	4	RGS1	1	192547354	Missense_Mutation	SNP	G	TCGA-DW-7834-01A-11D-2136-08	31455335	192547354	56703267	3	33703											
ELF3	1999	hgsc.bcm.edu	37	1	201980419	201980420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:201980419_201980420insG	ENST00000359651.3	+	1	3347_3348	c.155_156insG	c.(154-159)gagggtfs	p.EG52fs	ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367284.5_Frame_Shift_Ins_p.EG52fs|ELF3_ENST00000367283.3_Frame_Shift_Ins_p.EG52fs|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.E52G(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						ATGTCATTGGAGGGTACAGGTG	0.609																																																2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.158dupG	chr1.hg19:g.201980422_201980422dupG	ENSP00000352673:p.Glu52fs			Frame_Shift_Ins	INS	ENST00000359651.3	hg19	CCDS1419.1																																																																																				0.609	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		G	201980420	-	G	201980419	7	5	619	1	0	1	1	0	0	0	0	0	5057	304	11	0	157	0	ELF3	1	201980419	Frame_Shift_Ins	INS	-	TCGA-DW-7834-01A-11D-2136-08	9433065	201980419	47270202	4	33704											
PLXNA2	5362	hgsc.bcm.edu	37	1	208215581	208215581	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:208215581C>T	ENST00000367033.3	-	22	4905	c.4148G>A	c.(4147-4149)cGg>cAg	p.R1383Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1383					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACGTTGCCCCGGTCGCGCAT	0.582																																																0													94	92	92					1																	208215581		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4148G>A	chr1.hg19:g.208215581C>T	ENSP00000356000:p.Arg1383Gln		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504221	0.96371	.	.	ENSG00000076356	ENST00000367033	T	0.15718	2.4	5.15	5.15	0.70609	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49916	-0.8888	10	0.87932	D	0	.	18.6381	0.91385	0.0:1.0:0.0:0.0	.	1383	O75051	PLXA2_HUMAN	Q	1383	ENSP00000356000:R1383Q	ENSP00000356000:R1383Q	R	-	2	0	PLXNA2	206282204	1.000000	0.71417	0.980000	0.43619	0.826000	0.46750	7.480000	0.81109	2.391000	0.81399	0.455000	0.32223	CGG		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		T	208215581	C	T	208215581	3	4	619	1	0	0	0	0	1	0	0	0	12122	652	23	1	1580	1	PLXNA2	1	208215581	Missense_Mutation	SNP	C	TCGA-DW-7834-01A-11D-2136-08	6235162	208215581	41035040	5	33705											
NUP133	55746	hgsc.bcm.edu	37	1	229631732	229631732	+	Silent	SNP	G	G	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:229631732G>T	ENST00000261396.3	-	7	973	c.882C>A	c.(880-882)atC>atA	p.I294I	NUP133_ENST00000537506.1_Silent_p.I278I	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	294			I -> V (in dbSNP:rs11805194).		carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CCCATTTACTGATGTTTGAAC	0.363																																																0													105	101	103					1																	229631732		2203	4299	6502	SO:0001819	synonymous_variant	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.882C>A	chr1.hg19:g.229631732G>T			B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	hg19	CCDS1579.1																																																																																				0.363	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		T	229631732	G	T	229631732	2	4	619	1	0	0	0	0	0	0	0	1	10756	1280	45	4		4	NUP133	1	229631732	Silent	SNP	G	TCGA-DW-7834-01A-11D-2136-08	21416151	229631732	19618889	6	33706											
LPIN1	23175	hgsc.bcm.edu	37	2	11913751	11913751	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr2:11913751T>C	ENST00000256720.2	+	5	695	c.602T>C	c.(601-603)cTt>cCt	p.L201P	LPIN1_ENST00000425416.2_Missense_Mutation_p.L207P|LPIN1_ENST00000449576.2_Missense_Mutation_p.L250P|LPIN1_ENST00000396098.1_Missense_Mutation_p.L207P|LPIN1_ENST00000396099.1_Missense_Mutation_p.L207P	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	201					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCCAGAACTCTTCCTAATGAT	0.358																																																0													81	88	86					2																	11913751		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.602T>C	chr2.hg19:g.11913751T>C	ENSP00000256720:p.Leu201Pro		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	hg19	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	T	5.891	0.348519	0.11126	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	T;D;T;T;T	0.89270	-1.47;-2.49;-1.45;-1.47;-1.47	5.6	3.27	0.37495	.	0.457402	0.18485	N	0.139836	T	0.80884	0.4709	L	0.31926	0.97	0.09310	N	0.999998	B;B;B	0.11235	0.002;0.0;0.004	B;B;B	0.11329	0.006;0.002;0.006	T	0.66929	-0.5799	10	0.31617	T	0.26	-5.5606	7.3106	0.26473	0.0:0.2849:0.0:0.7151	.	250;201;207	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	P	250;207;207;207;201	ENSP00000397908:L250P;ENSP00000379405:L207P;ENSP00000379406:L207P;ENSP00000401522:L207P;ENSP00000256720:L201P	ENSP00000256720:L201P	L	+	2	0	LPIN1	11831202	0.012000	0.17670	0.131000	0.22000	0.489000	0.33432	1.405000	0.34635	0.974000	0.38366	0.482000	0.46254	CTT		0.358	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		C	11913751	T	C	11913751	3	2	619	1	0	0	0	0	1	0	0	0	8920	1609	56	3	616	3	LPIN1	2	11913751	Missense_Mutation	SNP	T	TCGA-DW-7834-01A-11D-2136-08		11913751	231285622	7	33707											
IFIH1	64135	hgsc.bcm.edu	37	2	163167397	163167397	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr2:163167397A>G	ENST00000263642.2	-	2	895	c.500T>C	c.(499-501)cTa>cCa	p.L167P	IFIH1_ENST00000421365.2_Missense_Mutation_p.L167P	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	167	CARD 2.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTTTTTAGTAGCTCTCTTAC	0.358																																																0													81	72	75					2																	163167397		2203	4299	6502	SO:0001583	missense	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.500T>C	chr2.hg19:g.163167397A>G	ENSP00000263642:p.Leu167Pro		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	hg19	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318793	0.60524	.	.	ENSG00000115267	ENST00000263642;ENST00000543192;ENST00000421365	T;T	0.63255	-0.03;-0.03	5.81	5.81	0.92471	DEATH-like (2);Caspase Recruitment (1);	0.140170	0.48286	D	0.000192	T	0.79411	0.4441	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81874	-0.0732	10	0.87932	D	0	-10.3294	16.1677	0.81782	1.0:0.0:0.0:0.0	.	167;167	Q9BYX4-2;Q9BYX4	.;IFIH1_HUMAN	P	167	ENSP00000263642:L167P;ENSP00000408450:L167P	ENSP00000263642:L167P	L	-	2	0	IFIH1	162875643	0.991000	0.36638	0.999000	0.59377	0.237000	0.25408	6.182000	0.71995	2.218000	0.71995	0.528000	0.53228	CTA		0.358	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		G	163167397	A	G	163167397	3	3	619	1	0	0	0	0	1	0	0	0	7522	420	15	3	2637	3	IFIH1	2	163167397	Missense_Mutation	SNP	A	TCGA-DW-7834-01A-11D-2136-08	151253646	163167397	80031976	8	33708											
OBFC2A	64859	hgsc.bcm.edu	37	2	192543405	192543405	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr2:192543405A>C	ENST00000425611.2	+	1	148	c.65A>C	c.(64-66)aAt>aCt	p.N22T	NABP1_ENST00000410026.2_Intron|NABP1_ENST00000409510.1_Intron	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	22					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)										AAAAACTTAAATGTCGTCTTT	0.562																																																0													42	50	47					2																	192543405		2203	4300	6503	SO:0001583	missense	64859			BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"single-stranded DNA-binding protein 2", "sensor of single-strand DNA complex subunit B2"	612103	"oligonucleotide/oligosaccharide-binding fold containing 2A"	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.65A>C	chr2.hg19:g.192543405A>C	ENSP00000403683:p.Asn22Thr		Q658Y8|Q9H5X6	Missense_Mutation	SNP	ENST00000425611.2	hg19	CCDS33352.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527945	0.85706	.	.	ENSG00000173559	ENST00000425611	T	0.28255	1.62	5.51	5.51	0.81932	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.107337	0.64402	D	0.000007	T	0.46927	0.1418	M	0.68728	2.09	0.54753	D	0.999989	D	0.63046	0.992	P	0.59487	0.858	T	0.47522	-0.9111	10	0.56958	D	0.05	.	9.7659	0.40561	0.9219:0.0:0.0781:0.0	.	22	Q96AH0	SOSB2_HUMAN	T	22	ENSP00000403683:N22T	ENSP00000307968:N22T	N	+	2	0	OBFC2A	192251650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.953000	0.70290	2.080000	0.62538	0.533000	0.62120	AAT		0.562	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837		C	192543405	A	C	192543405	3	2	619	1	0	0	0	0	1	0	0	0	10810	101	4	5	67	5	OBFC2A	2	192543405	Missense_Mutation	SNP	A	TCGA-DW-7834-01A-11D-2136-08	29376008	192543405	50655968	9	33709											
SF3B1	23451	hgsc.bcm.edu	37	2	198274598	198274598	+	Missense_Mutation	SNP	G	G	T	rs1044635		TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr2:198274598G>T	ENST00000335508.6	-	7	891	c.800C>A	c.(799-801)aCt>aAt	p.T267N		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	267	Interaction with PPP1R8.|U2AF homology region; mediates interaction with RMB39.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCGTCCAGGAGTAGCAGCTCC	0.562			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													170	167	168					2																	198274598		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.800C>A	chr2.hg19:g.198274598G>T	ENSP00000335321:p.Thr267Asn		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	hg19	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179984	0.94846	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	L	0.44542	1.39	0.80722	D	1	D	0.55800	0.973	P	0.47346	0.544	T	0.53954	-0.8365	9	0.27082	T	0.32	.	19.0839	0.93194	0.0:0.0:1.0:0.0	.	267	O75533	SF3B1_HUMAN	N	267	.	ENSP00000335321:T267N	T	-	2	0	SF3B1	197982843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	2.502000	0.84385	0.655000	0.94253	ACT		0.562	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			T	198274598	G	T	198274598	3	4	619	1	0	0	0	0	1	0	0	0	14155	1029	36	4	3190	4	SF3B1	2	198274598	Missense_Mutation	SNP	G	TCGA-DW-7834-01A-11D-2136-08	5731193	198274598	44924775	10	33710											
DNAJB2	3300	hgsc.bcm.edu	37	2	220150708	220150708	+	3'UTR	SNP	G	G	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr2:220150708G>T	ENST00000336576.5	+	0	2262				DNAJB2_ENST00000392086.4_Splice_Site	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2						cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCTCCCCAGATGTGTTCTG	0.647																																																0													56	63	61					2																	220150708		2002	4166	6168	SO:0001624	3_prime_UTR_variant	3300				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"Heat shock proteins / DNAJ (HSP40)"	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.*999G>T	chr2.hg19:g.220150708G>T			A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Splice_Site	SNP	ENST00000336576.5	hg19	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782364	0.70222	.	.	ENSG00000135924	ENST00000392086	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3963	0.87446	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJB2	219858952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.413000	0.59795	2.894000	0.99253	0.655000	0.94253	.		0.647	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			T	220150708	G	T	220150708	1	4	619	0	1	0	0	0	0	0	0	0	4622	956	33	4		4	DNAJB2	2	220150708	3'UTR	SNP	G	TCGA-DW-7834-01A-11D-2136-08	21876110	220150708	23048665	11	33711											
DDX60	55601	hgsc.bcm.edu	37	4	169172121	169172121	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr4:169172121C>T	ENST00000393743.3	-	28	4133	c.3842G>A	c.(3841-3843)aGa>aAa	p.R1281K	DDX60_ENST00000505393.1_5'Flank	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1281	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATATCCTTTTCTAAAGAGGAT	0.338																																																0													76	79	78					4																	169172121		2201	4297	6498	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3842G>A	chr4.hg19:g.169172121C>T	ENSP00000377344:p.Arg1281Lys		Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	hg19	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096722	0.36952	.	.	ENSG00000137628	ENST00000393743	T	0.26957	1.7	5.4	5.4	0.78164	Helicase, C-terminal (3);	0.075985	0.56097	D	0.000034	T	0.27098	0.0664	L	0.39020	1.185	0.39934	D	0.974326	P	0.36768	0.569	B	0.38880	0.284	T	0.05750	-1.0866	10	0.52906	T	0.07	.	18.7821	0.91937	0.0:1.0:0.0:0.0	.	1281	Q8IY21	DDX60_HUMAN	K	1281	ENSP00000377344:R1281K	ENSP00000377344:R1281K	R	-	2	0	DDX60	169408696	1.000000	0.71417	0.408000	0.26446	0.120000	0.20174	4.958000	0.63660	2.549000	0.85964	0.467000	0.42956	AGA		0.338	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		T	169172121	C	T	169172121	3	4	619	1	0	0	0	0	1	0	0	0	4380	913	32	2	1340	2	DDX60	4	169172121	Missense_Mutation	SNP	C	TCGA-DW-7834-01A-11D-2136-08		169172121	21982155	12	33712											
PALLD	23022	hgsc.bcm.edu	37	4	169433375	169433375	+	Silent	SNP	G	G	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr4:169433375G>A	ENST00000505667.1	+	2	893	c.720G>A	c.(718-720)agG>agA	p.R240R	PALLD_ENST00000333488.4_Silent_p.R117R|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Silent_p.R240R			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	240					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTGGGGCCAGGCATTGCTACC	0.597									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)											0													89	86	87					4																	169433375		2203	4300	6503	SO:0001819	synonymous_variant	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.720G>A	chr4.hg19:g.169433375G>A			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	hg19	CCDS54818.1																																																																																				0.597	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		A	169433375	G	A	169433375	2	1	619	1	0	0	0	0	0	0	0	1	11409	1194	42	2		2	PALLD	4	169433375	Silent	SNP	G	TCGA-DW-7834-01A-11D-2136-08	261254	169433375	21720901	13	33713											
WWC2	80014	hgsc.bcm.edu	37	4	184166688	184166688	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr4:184166688A>C	ENST00000403733.3	+	6	921	c.722A>C	c.(721-723)gAt>gCt	p.D241A	WWC2_ENST00000504005.1_Intron|WWC2_ENST00000378925.3_Missense_Mutation_p.D143A|WWC2_ENST00000448232.2_Missense_Mutation_p.D241A|WWC2_ENST00000513834.1_Missense_Mutation_p.D241A	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	241					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GAAAAACAAGATCTGATGCAG	0.433																																																0													50	50	50					4																	184166688		2203	4300	6503	SO:0001583	missense	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.722A>C	chr4.hg19:g.184166688A>C	ENSP00000384222:p.Asp241Ala		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	hg19	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591096	0.86851	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232	T;T;T;T	0.15256	3.17;2.44;3.23;3.03	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	T	0.38904	0.1058	M	0.77820	2.39	0.58432	D	0.999999	D	0.67145	0.996	P	0.60609	0.877	T	0.15925	-1.0420	10	0.33940	T	0.23	-24.0084	15.3161	0.74078	1.0:0.0:0.0:0.0	.	241	Q6AWC2	WWC2_HUMAN	A	241;143;241;241	ENSP00000384222:D241A;ENSP00000368205:D143A;ENSP00000425054:D241A;ENSP00000398577:D241A	ENSP00000368205:D143A	D	+	2	0	WWC2	184403682	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.856000	0.92245	2.254000	0.74563	0.533000	0.62120	GAT		0.433	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		C	184166688	A	C	184166688	3	2	619	1	0	0	0	0	1	0	0	0	17417	333	12	5	744	5	WWC2	4	184166688	Missense_Mutation	SNP	A	TCGA-DW-7834-01A-11D-2136-08	14733313	184166688	6987588	14	33714											
PDZD2	23037	hgsc.bcm.edu	37	5	32074625	32074625	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr5:32074625G>T	ENST00000438447.1	+	18	3801	c.3413G>T	c.(3412-3414)aGt>aTt	p.S1138I	PDZD2_ENST00000282493.3_Missense_Mutation_p.S1138I			O15018	PDZD2_HUMAN	PDZ domain containing 2	1138					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCAAGCCCAGTGGCTCACAG	0.587																																																0													42	42	42					5																	32074625		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3413G>T	chr5.hg19:g.32074625G>T	ENSP00000402033:p.Ser1138Ile		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	hg19	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006840	0.35415	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06933	3.24;3.24	5.21	1.07	0.20283	.	1.010820	0.07935	N	0.978210	T	0.06325	0.0163	L	0.51422	1.61	0.09310	N	1	P;B	0.37864	0.61;0.01	B;B	0.28139	0.086;0.014	T	0.38436	-0.9661	10	0.20519	T	0.43	.	4.0787	0.09916	0.1583:0.1285:0.5814:0.1318	.	964;1138	B4E3P2;O15018	.;PDZD2_HUMAN	I	1138;940;1138	ENSP00000402033:S1138I;ENSP00000282493:S1138I	ENSP00000282493:S1138I	S	+	2	0	PDZD2	32110382	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	1.151000	0.31651	0.543000	0.28864	0.655000	0.94253	AGT		0.587	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32074625	G	T	32074625	3	4	619	1	0	0	0	0	1	0	0	0	11703	1029	36	4	3479	4	PDZD2	5	32074625	Missense_Mutation	SNP	G	TCGA-DW-7834-01A-11D-2136-08		32074625	148840635	15	33715											
FCHO2	115548	hgsc.bcm.edu	37	5	72383545	72383545	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr5:72383545A>G	ENST00000430046.2	+	25	2491	c.2375A>G	c.(2374-2376)tAt>tGt	p.Y792C	FCHO2_ENST00000341845.6_Missense_Mutation_p.Y792C|FCHO2_ENST00000512348.1_Missense_Mutation_p.Y759C	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	792	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GGCACTGGCTATAGGCTTTCC	0.398																																																0													128	126	127					5																	72383545		1836	4085	5921	SO:0001583	missense	115548			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.2375A>G	chr5.hg19:g.72383545A>G	ENSP00000393776:p.Tyr792Cys		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	hg19	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.849389	0.51270	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.54675	0.56;0.56;0.56	4.77	4.77	0.60923	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81024	-0.1120	10	0.87932	D	0	-11.6205	14.7503	0.69519	1.0:0.0:0.0:0.0	.	759;792	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	C	792;792;759	ENSP00000393776:Y792C;ENSP00000344034:Y792C;ENSP00000427296:Y759C	ENSP00000344034:Y792C	Y	+	2	0	FCHO2	72419301	1.000000	0.71417	0.960000	0.40013	0.262000	0.26303	8.705000	0.91357	2.124000	0.65301	0.528000	0.53228	TAT		0.398	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		G	72383545	A	G	72383545	3	3	619	1	0	0	0	0	1	0	0	0	5790	449	16	3	2473	3	FCHO2	5	72383545	Missense_Mutation	SNP	A	TCGA-DW-7834-01A-11D-2136-08	40308920	72383545	108531715	16	33716											
VCAN	1462	hgsc.bcm.edu	37	5	82785943	82785943	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr5:82785943A>T	ENST00000265077.3	+	3	662	c.97A>T	c.(97-99)Agg>Tgg	p.R33W	VCAN_ENST00000513984.1_Missense_Mutation_p.R33W|VCAN_ENST00000512590.2_De_novo_Start_InFrame|VCAN_ENST00000342785.4_Missense_Mutation_p.R33W|VCAN_ENST00000343200.5_Missense_Mutation_p.R33W|VCAN_ENST00000502527.2_Missense_Mutation_p.R33W	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	33	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCCACCGGTGAGGGGCTCCCT	0.403																																																0													51	51	51					5																	82785943		2202	4293	6495	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.97A>T	chr5.hg19:g.82785943A>T	ENSP00000265077:p.Arg33Trp		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672502	0.47781	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.99	2.17	0.27698	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.395914	0.24213	N	0.040512	T	0.72220	0.3433	L	0.50333	1.59	0.21064	N	0.999792	P;P;D;D;D	0.63880	0.804;0.857;0.986;0.993;0.965	P;P;P;D;P	0.66602	0.87;0.641;0.702;0.945;0.838	T	0.62613	-0.6817	10	0.72032	D	0.01	.	8.4359	0.32786	0.6885:0.2476:0.0639:0.0	.	33;33;33;33;33	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	W	33	ENSP00000265077:R33W;ENSP00000340062:R33W;ENSP00000342768:R33W;ENSP00000426251:R33W;ENSP00000426715:R33W;ENSP00000421362:R33W	ENSP00000265077:R33W	R	+	1	2	VCAN	82821699	0.054000	0.20591	0.027000	0.17364	0.046000	0.14306	1.559000	0.36320	0.134000	0.18681	-0.316000	0.08728	AGG		0.403	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		T	82785943	A	T	82785943	3	4	619	1	0	0	0	0	1	0	0	0	17143	295	11	5	103	5	VCAN	5	82785943	Missense_Mutation	SNP	A	TCGA-DW-7834-01A-11D-2136-08	10402398	82785943	98129317	17	33717											
VARS2	57176	hgsc.bcm.edu	37	6	30888201	30888201	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:30888201T>C	ENST00000321897.5	+	13	2017	c.1385T>C	c.(1384-1386)cTg>cCg	p.L462P	VARS2_ENST00000416670.2_Missense_Mutation_p.L462P|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.L322P|VARS2_ENST00000541562.1_Missense_Mutation_p.L492P			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	462					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCATGGTACTGCCCATCTGC	0.527																																																0													41	43	42					6																	30888201		2203	4300	6503	SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1385T>C	chr6.hg19:g.30888201T>C	ENSP00000316092:p.Leu462Pro		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	hg19	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777854	0.70107	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	4.26	4.26	0.50523	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.64402	D	0.000002	T	0.56077	0.1961	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.65923	-0.6050	10	0.87932	D	0	-11.1733	11.6463	0.51263	0.0:0.0:0.0:1.0	.	460;492;462	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	P	462;462;322;492	ENSP00000316092:L462P;ENSP00000394802:L462P;ENSP00000438200:L322P;ENSP00000441000:L492P	ENSP00000316092:L462P	L	+	2	0	VARS2	30996180	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.008000	0.76341	1.708000	0.51301	0.374000	0.22700	CTG		0.527	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		C	30888201	T	C	30888201	3	2	619	1	0	0	0	0	1	0	0	0	17129	1580	55	3	1529	3	VARS2	6	30888201	Missense_Mutation	SNP	T	TCGA-DW-7834-01A-11D-2136-08		30888201	140226866	18	33718											
ZNF76	7629	hgsc.bcm.edu	37	6	35260658	35260658	+	Splice_Site	SNP	C	C	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:35260658C>T	ENST00000373953.3	+	11	1432	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V	ZNF76_ENST00000339411.5_Splice_Site_p.A389V|ZNF76_ENST00000440666.2_Splice_Site_p.A363V	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	389					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCTCTCCCAGCCGCCTCTGCA	0.622																																					Esophageal Squamous(52;92 1039 20612 23956 34676)											0													54	58	57					6																	35260658		2203	4300	6503	SO:0001630	splice_region_variant	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1166-1C>T	chr6.hg19:g.35260658C>T			Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	hg19	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615788	0.46631	.	.	ENSG00000065029	ENST00000373953;ENST00000440666;ENST00000339411	T;T;T	0.10668	2.88;2.88;2.85	4.83	4.83	0.62350	.	0.000000	0.36740	N	0.002424	T	0.01835	0.0058	N	0.08118	0	0.26011	N	0.981989	B;B	0.33135	0.392;0.399	B;B	0.34452	0.115;0.183	T	0.43196	-0.9406	9	.	.	.	.	8.2836	0.31915	0.176:0.6542:0.1698:0.0	.	389;389	P36508-2;P36508	.;ZNF76_HUMAN	V	389;363;389	ENSP00000363064:A389V;ENSP00000392243:A363V;ENSP00000344097:A389V	.	A	+	2	0	ZNF76	35368636	0.001000	0.12720	1.000000	0.80357	0.876000	0.50452	1.026000	0.30103	2.487000	0.83934	0.491000	0.48974	GCC		0.622	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427	Missense_Mutation	T	35260658	C	T	35260658	5	4	619	1	0	0	0	0	0	0	1	0	18140	753	26	2	1204	2	ZNF76	6	35260658	Splice_Site	SNP	C	TCGA-DW-7834-01A-11D-2136-08	4372457	35260658	135854409	19	33719											
DNAH8	1769	hgsc.bcm.edu	37	6	38709565	38709565	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:38709565A>G	ENST00000359357.3	+	6	798	c.544A>G	c.(544-546)Atg>Gtg	p.M182V	DNAH8_ENST00000449981.2_Missense_Mutation_p.M399V|RN7SL465P_ENST00000468411.2_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.M182V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	182					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGGAAACGCATGTCAGCCAA	0.398																																																0													121	105	110					6																	38709565		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.544A>G	chr6.hg19:g.38709565A>G	ENSP00000352312:p.Met182Val		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	A	16.47	3.131132	0.56828	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.56611	0.45;0.45;0.45	5.91	5.91	0.95273	Dynein heavy chain, domain-1 (1);	0.047100	0.85682	D	0.000000	T	0.36276	0.0961	L	0.29908	0.895	0.40827	D	0.983553	B	0.27765	0.188	B	0.36608	0.229	T	0.42965	-0.9420	10	0.66056	D	0.02	.	16.3429	0.83101	1.0:0.0:0.0:0.0	.	182	Q96JB1	DYH8_HUMAN	V	387;387;182;182	ENSP00000333363:M387V;ENSP00000352312:M182V;ENSP00000402294:M182V	ENSP00000333363:M387V	M	+	1	0	DNAH8	38817543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.248000	0.72418	2.256000	0.74724	0.523000	0.50628	ATG		0.398	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		G	38709565	A	G	38709565	3	3	619	1	0	0	0	0	1	0	0	0	4609	217	8	3	558	3	DNAH8	6	38709565	Missense_Mutation	SNP	A	TCGA-DW-7834-01A-11D-2136-08	3448907	38709565	132405502	20	33720											
BAI3	577	hgsc.bcm.edu	37	6	69943243	69943243	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:69943243C>T	ENST00000370598.1	+	18	3363	c.2542C>T	c.(2542-2544)Cat>Tat	p.H848Y	BAI3_ENST00000238918.8_Missense_Mutation_p.H54Y	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	848	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CGATGCATCCCATACGAAATG	0.473																																																0													203	180	188					6																	69943243		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2542C>T	chr6.hg19:g.69943243C>T	ENSP00000359630:p.His848Tyr		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	hg19	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946496	0.53186	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.69175	-0.38;-0.38	5.37	5.37	0.77165	GPS domain (3);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	L	0.54863	1.705	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.87578	0.824;0.998	T	0.77230	-0.2664	10	0.62326	D	0.03	.	19.1872	0.93648	0.0:1.0:0.0:0.0	.	54;848	B7Z356;O60242	.;BAI3_HUMAN	Y	848;54	ENSP00000359630:H848Y;ENSP00000238918:H54Y	ENSP00000238918:H54Y	H	+	1	0	BAI3	69999964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.889000	0.69766	2.539000	0.85634	0.454000	0.30748	CAT		0.473	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			T	69943243	C	T	69943243	3	4	619	1	0	0	0	0	1	0	0	0	1300	594	21	2	2604	2	BAI3	6	69943243	Missense_Mutation	SNP	C	TCGA-DW-7834-01A-11D-2136-08	31233678	69943243	101171824	21	33721											
RFX6	222546	hgsc.bcm.edu	37	6	117245902	117245902	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:117245902T>A	ENST00000332958.2	+	15	1642	c.1626T>A	c.(1624-1626)aaT>aaA	p.N542K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	542					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGTTTAATAATGACAAAGAGC	0.338																																																0													100	99	99					6																	117245902		2203	4300	6503	SO:0001583	missense	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1626T>A	chr6.hg19:g.117245902T>A	ENSP00000332208:p.Asn542Lys		Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	hg19	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521372	0.64747	.	.	ENSG00000185002	ENST00000332958	T	0.57107	0.42	5.32	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.49640	1.575	0.53688	D	0.999972	D	0.59357	0.985	P	0.53360	0.724	T	0.50508	-0.8820	10	0.56958	D	0.05	-21.9444	10.8185	0.46591	0.0:0.0743:0.0:0.9257	.	542	Q8HWS3	RFX6_HUMAN	K	542	ENSP00000332208:N542K	ENSP00000332208:N542K	N	+	3	2	RFX6	117352595	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.890000	0.39728	2.138000	0.66242	0.533000	0.62120	AAT		0.338	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		A	117245902	T	A	117245902	3	1	619	1	0	0	0	0	1	0	0	0	13273	1461	51	5	1684	5	RFX6	6	117245902	Missense_Mutation	SNP	T	TCGA-DW-7834-01A-11D-2136-08	47302659	117245902	53869165	22	33722											
AEBP1	165	hgsc.bcm.edu	37	7	44152208	44152208	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr7:44152208G>C	ENST00000223357.3	+	18	2574	c.2269G>C	c.(2269-2271)Gtg>Ctg	p.V757L	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.V332L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	757	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAACCCCTTCGTGCTGGGAGC	0.642																																																0													48	52	51					7																	44152208		2203	4299	6502	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2269G>C	chr7.hg19:g.44152208G>C	ENSP00000223357:p.Val757Leu		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	hg19	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147205	0.94603	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.03524	3.9;3.9	5.08	5.08	0.68730	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	M	0.83953	2.67	0.80722	D	1	D;P	0.76494	0.999;0.887	D;P	0.81914	0.995;0.796	T	0.00473	-1.1718	10	0.62326	D	0.03	-39.5208	17.5863	0.87982	0.0:0.0:1.0:0.0	.	332;757	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	L	757;332	ENSP00000223357:V757L;ENSP00000398878:V332L	ENSP00000223357:V757L	V	+	1	0	AEBP1	44118733	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.597000	0.74118	2.533000	0.85409	0.491000	0.48974	GTG		0.642	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		C	44152208	G	C	44152208	3	2	619	1	0	0	0	0	1	0	0	0	349	1145	40	4	2339	4	AEBP1	7	44152208	Missense_Mutation	SNP	G	TCGA-DW-7834-01A-11D-2136-08		44152208	114986455	23	33723											
OGDH	4967	hgsc.bcm.edu	37	7	44714122	44714122	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr7:44714122G>A	ENST00000222673.5	+	7	943	c.901G>A	c.(901-903)Ggc>Agc	p.G301S	OGDH_ENST00000443864.2_Missense_Mutation_p.G301S|OGDH_ENST00000543843.1_Missense_Mutation_p.G252S|OGDH_ENST00000439616.2_Missense_Mutation_p.G151S|OGDH_ENST00000447398.1_Missense_Mutation_p.G312S|OGDH_ENST00000444676.1_Missense_Mutation_p.G316S|OGDH_ENST00000449767.1_Missense_Mutation_p.G297S|OGDH_ENST00000459672.1_3'UTR	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	301					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TAGTGAGAATGGCGTGGACTA	0.572																																																0													136	110	119					7																	44714122		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.901G>A	chr7.hg19:g.44714122G>A	ENSP00000222673:p.Gly301Ser		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	hg19	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996894	0.93167	.	.	ENSG00000105953	ENST00000439616;ENST00000443864;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;T;D;D;D;D;D	0.95788	-3.81;2.48;-3.81;-3.81;-3.81;-3.81;-3.81	4.97	4.97	0.65823	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.998;0.998;0.998;0.998;0.999	D;D;D;D;D;D;D	0.87578	0.995;0.996;0.995;0.996;0.992;0.995;0.998	D	0.99091	1.0840	10	0.87932	D	0	-17.2819	18.1993	0.89833	0.0:0.0:1.0:0.0	.	96;151;297;312;203;301;301	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218;Q96DD3	.;.;.;.;.;ODO1_HUMAN;.	S	151;301;297;312;316;301;252	ENSP00000398576:G151S;ENSP00000388084:G301S;ENSP00000392878:G297S;ENSP00000388183:G312S;ENSP00000414662:G316S;ENSP00000222673:G301S;ENSP00000443821:G252S	ENSP00000222673:G301S	G	+	1	0	OGDH	44680647	1.000000	0.71417	0.169000	0.22859	0.771000	0.43674	9.609000	0.98334	2.462000	0.83206	0.561000	0.74099	GGC		0.572	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			A	44714122	G	A	44714122	3	1	619	1	0	0	0	0	1	0	0	0	10841	1348	47	2	1018	2	OGDH	7	44714122	Missense_Mutation	SNP	G	TCGA-DW-7834-01A-11D-2136-08	561914	44714122	114424541	24	33724											
VSTM2A	222008	hgsc.bcm.edu	37	7	54617692	54617692	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr7:54617692C>T	ENST00000407838.3	+	4	869	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	VSTM2A_ENST00000402026.2_Missense_Mutation_p.R154C|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R155C|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000302287.3_Missense_Mutation_p.R155C|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R155C	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	155						extracellular region (GO:0005576)		p.R155C(1)|p.R154C(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CAGCCATGCCCGCAGAATGCA	0.577																																																2	Substitution - Missense(2)	endometrium(2)											57	54	55					7																	54617692		2203	4299	6502	SO:0001583	missense	222008			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.463C>T	chr7.hg19:g.54617692C>T	ENSP00000384967:p.Arg155Cys		A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	hg19	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950503	0.73787	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.50277	0.75;0.78;0.75;0.75;0.78	5.06	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	M	0.68952	2.095	0.52501	D	0.999954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.993	T	0.63440	-0.6637	10	0.51188	T	0.08	-25.8697	11.9552	0.52976	0.334:0.666:0.0:0.0	.	155;155;155	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	C	155;155;155;154;155	ENSP00000303108:R155C;ENSP00000384967:R155C;ENSP00000384701:R155C;ENSP00000385933:R154C;ENSP00000384103:R155C	ENSP00000303108:R155C	R	+	1	0	VSTM2A	54585186	0.357000	0.24938	0.524000	0.27887	0.981000	0.71138	0.571000	0.23669	0.566000	0.29273	0.655000	0.94253	CGC		0.577	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		T	54617692	C	T	54617692	3	4	619	1	0	0	0	0	1	0	0	0	17234	652	23	1	477	1	VSTM2A	7	54617692	Missense_Mutation	SNP	C	TCGA-DW-7834-01A-11D-2136-08	9903570	54617692	104520971	25	33725											
LUC7L2	100996928	hgsc.bcm.edu	37	7	139107032	139107032	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr7:139107032T>A	ENST00000354926.4	+	10	1479	c.1125T>A	c.(1123-1125)aaT>aaA	p.N375K	C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.N372K|LUC7L2_ENST00000541515.3_Missense_Mutation_p.N441K|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.N374K	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AGAGTGCTAATGGCAGATCAG	0.478																																																0													133	136	135					7																	139107032		1945	4137	6082	SO:0001583	missense	100996928				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.1125T>A	chr7.hg19:g.139107032T>A	ENSP00000347005:p.Asn375Lys			Missense_Mutation	SNP	ENST00000354926.4	hg19	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.880250	0.51801	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.41400	1.59;1.59;1.59;1.0	6.03	3.72	0.42706	.	0.255682	0.45126	D	0.000400	T	0.33702	0.0872	L	0.58810	1.83	0.42902	D	0.994235	P;P;P;P	0.40731	0.608;0.608;0.728;0.608	B;B;B;B	0.36186	0.109;0.109;0.219;0.109	T	0.46898	-0.9158	9	0.23891	T	0.37	-21.4412	8.941	0.35729	0.0:0.2436:0.0:0.7564	.	441;372;374;375	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	K	372;441;375;375;374	ENSP00000441604:N372K;ENSP00000440222:N441K;ENSP00000347005:N375K;ENSP00000263545:N374K	ENSP00000263545:N374K	N	+	3	2	LUC7L2	138757572	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.312000	0.19397	1.117000	0.41842	0.455000	0.32223	AAT		0.478	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			A	139107032	T	A	139107032	3	1	619	1	0	0	0	0	1	0	0	0	9085	1461	51	5	1163	5	LUC7L2	7	139107032	Missense_Mutation	SNP	T	TCGA-DW-7834-01A-11D-2136-08	84489340	139107032	20031631	26	33726											
PRSS55	203074	hgsc.bcm.edu	37	8	10390473	10390473	+	Nonsense_Mutation	SNP	G	G	A	rs150767306		TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr8:10390473G>A	ENST00000328655.3	+	4	696	c.656G>A	c.(655-657)tGg>tAg	p.W219*	PRSS55_ENST00000522210.1_Nonsense_Mutation_p.W219*|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	219	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATCATGGACTGGGAGGAGTGT	0.473																																																0													124	112	116					8																	10390473		2203	4300	6503	SO:0001587	stop_gained	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.656G>A	chr8.hg19:g.10390473G>A	ENSP00000333003:p.Trp219*		E5RJX5	Nonsense_Mutation	SNP	ENST00000328655.3	hg19	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820578	0.71028	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	.	.	.	5.27	4.39	0.52855	.	0.259915	0.20629	N	0.088631	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	10.0857	0.42417	0.094:0.0:0.906:0.0	.	.	.	.	X	219	.	ENSP00000333003:W219X	W	+	2	0	PRSS55	10427883	0.948000	0.32251	0.056000	0.19401	0.063000	0.16089	1.788000	0.38714	1.344000	0.45657	0.591000	0.81541	TGG		0.473	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		A	10390473	G	A	10390473	4	1	619	1	0	0	0	0	0	1	0	0	12639	1357	47	2	670	2	PRSS55	8	10390473	Nonsense_Mutation	SNP	G	TCGA-DW-7834-01A-11D-2136-08		10390473	135973549	27	33727											
C8orf80	389643	hgsc.bcm.edu	37	8	27888815	27888815	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr8:27888815C>G	ENST00000413272.2	-	15	1995	c.1853G>C	c.(1852-1854)gGg>gCg	p.G618A	NUGGC_ENST00000341513.6_Missense_Mutation_p.G618A	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	618					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										ACTTCTTATCCCAATTTCTGT	0.468																																																0													139	140	140					8																	27888815		1863	4103	5966	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1853G>C	chr8.hg19:g.27888815C>G	ENSP00000408697:p.Gly618Ala		Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	hg19	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333721	0.24167	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.32753	1.44;1.44	5.23	4.26	0.50523	.	0.580298	0.17797	N	0.161690	T	0.18002	0.0432	L	0.27053	0.805	0.09310	N	1	B	0.27229	0.172	B	0.22386	0.039	T	0.14309	-1.0477	10	0.06625	T	0.88	-16.0958	11.7736	0.51972	0.1875:0.8125:0.0:0.0	.	618	Q68CJ6	SLIP_HUMAN	A	618	ENSP00000408697:G618A;ENSP00000345031:G618A	ENSP00000345031:G618A	G	-	2	0	C8orf80	27944734	0.006000	0.16342	0.846000	0.33378	0.810000	0.45777	1.525000	0.35953	2.441000	0.82636	0.655000	0.94253	GGG		0.468	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		G	27888815	C	G	27888815	3	3	619	1	0	0	0	0	1	0	0	0	2441	623	22	4	557	4	C8orf80	8	27888815	Missense_Mutation	SNP	C	TCGA-DW-7834-01A-11D-2136-08	17498342	27888815	118475207	28	33728											
NR5A1	2516	hgsc.bcm.edu	37	9	127262609	127262609	+	Silent	SNP	C	C	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr9:127262609C>A	ENST00000373588.4	-	4	826	c.630G>T	c.(628-630)ccG>ccT	p.P210P		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	210					adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						GGTAGCCGTACGGCAGCCCAG	0.667																																																0													5	6	6					9																	127262609		2112	4146	6258	SO:0001819	synonymous_variant	2516			D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"Nuclear hormone receptors"	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.630G>T	chr9.hg19:g.127262609C>A			O15196|Q5T6F5	Silent	SNP	ENST00000373588.4	hg19	CCDS6856.1																																																																																				0.667	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		A	127262609	C	A	127262609	2	1	619	1	0	0	0	0	0	0	0	1	10637	523	19	4		4	NR5A1	9	127262609	Silent	SNP	C	TCGA-DW-7834-01A-11D-2136-08		127262609	13950822	29	33729											
KIF20B	9585	hgsc.bcm.edu	37	10	91498338	91498338	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr10:91498338A>C	ENST00000371728.3	+	20	3805	c.3740A>C	c.(3739-3741)gAa>gCa	p.E1247A	KIF20B_ENST00000394289.2_Missense_Mutation_p.E1247A|KIF20B_ENST00000416354.1_Missense_Mutation_p.E1277A|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.E1207A	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1247	Poly-Glu.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CAATTAAAAGAAGAAGAAGAA	0.279																																																0													33	35	34					10																	91498338		2006	4193	6199	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3740A>C	chr10.hg19:g.91498338A>C	ENSP00000360793:p.Glu1247Ala		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	hg19		.	.	.	.	.	.	.	.	.	.	A	12.72	2.021492	0.35701	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.71341	-0.46;-0.48;-0.56;-0.48	5.82	4.62	0.57501	.	0.125962	0.36167	N	0.002752	T	0.65375	0.2685	M	0.62723	1.935	0.32524	N	0.535885	P;P	0.52316	0.919;0.952	B;B	0.43916	0.253;0.436	T	0.75419	-0.3324	10	0.56958	D	0.05	-24.2326	5.4057	0.16320	0.6693:0.0:0.073:0.2577	.	1247;1207	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	A	1207;1277;1247;1247	ENSP00000260753:E1207A;ENSP00000411545:E1277A;ENSP00000377830:E1247A;ENSP00000360793:E1247A	ENSP00000260753:E1207A	E	+	2	0	KIF20B	91488318	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	4.090000	0.57693	2.222000	0.72286	0.383000	0.25322	GAA		0.279	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		C	91498338	A	C	91498338	3	2	619	1	0	0	0	0	1	0	0	0	8289	246	9	5	3694	5	KIF20B	10	91498338	Missense_Mutation	SNP	A	TCGA-DW-7834-01A-11D-2136-08		91498338	44036409	30	33730											
TRIM8	81603	hgsc.bcm.edu	37	10	104404881	104404881	+	Silent	SNP	C	C	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr10:104404881C>T	ENST00000302424.7	+	1	629	c.507C>T	c.(505-507)taC>taT	p.Y169Y	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	169					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTGCTGCTACTACAGCGGCG	0.662																																																0													14	15	15					10																	104404881		1665	3276	4941	SO:0001819	synonymous_variant	81603			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.507C>T	chr10.hg19:g.104404881C>T			A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	hg19	CCDS31274.1																																																																																				0.662	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		T	104404881	C	T	104404881	2	4	619	1	0	0	0	0	0	0	0	1	16553	576	20	2		2	TRIM8	10	104404881	Silent	SNP	C	TCGA-DW-7834-01A-11D-2136-08	12906543	104404881	31129866	31	33731											
PTPRJ	5795	hgsc.bcm.edu	37	11	48149503	48149503	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr11:48149503C>T	ENST00000418331.2	+	7	1617	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	PTPRJ_ENST00000440289.2_Missense_Mutation_p.P422L	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	422	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCTGTCATCCCCGGACTCCGC	0.552																																																0													137	112	121					11																	48149503		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1265C>T	chr11.hg19:g.48149503C>T	ENSP00000400010:p.Pro422Leu		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	hg19	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329627	0.24167	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.57752	0.38;0.38	6.17	-3.83	0.04269	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18635	0.0447	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	T	0.18272	-1.0342	9	0.25106	T	0.35	.	6.2032	0.20587	0.0:0.2896:0.327:0.3835	.	422;422	Q12913;Q6P4H4	PTPRJ_HUMAN;.	L	422	ENSP00000400010:P422L;ENSP00000409733:P422L	ENSP00000278456:P422L	P	+	2	0	PTPRJ	48106079	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.846000	0.04336	-1.113000	0.02981	-0.751000	0.03497	CCC		0.552	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			T	48149503	C	T	48149503	3	4	619	1	0	0	0	0	1	0	0	0	12810	623	22	2	1291	2	PTPRJ	11	48149503	Missense_Mutation	SNP	C	TCGA-DW-7834-01A-11D-2136-08		48149503	86857013	32	33732											
NAALADL1	10004	hgsc.bcm.edu	37	11	64822081	64822081	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr11:64822081C>T	ENST00000358658.3	-	5	760	c.733G>A	c.(733-735)Gag>Aag	p.E245K	NAALADL1_ENST00000355721.3_Missense_Mutation_p.E204K|NAALADL1_ENST00000355369.2_Missense_Mutation_p.E245K|NAALADL1_ENST00000356632.3_Missense_Mutation_p.E245K|NAALADL1_ENST00000340252.4_Missense_Mutation_p.E245K|NAALADL1_ENST00000339885.2_Missense_Mutation_p.E245K	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GAGCCTCGCTCCACTCCTGAG	0.597											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																																				0													56	55	55					11																	64822081		2201	4297	6498	SO:0001583	missense	10004			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.733G>A	chr11.hg19:g.64822081C>T	ENSP00000351484:p.Glu245Lys	1079	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	hg19	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798953	0.90538	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.7	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	M	0.81802	2.56	0.50632	D	0.999881	P	0.51240	0.943	P	0.57720	0.826	T	0.66842	-0.5821	10	0.87932	D	0	-32.0749	12.6604	0.56811	0.0:0.8326:0.1674:0.0	.	245	Q9UQQ1	NALDL_HUMAN	K	245;245;245;245;245;204;245	ENSP00000351484:E245K;ENSP00000347530:E245K;ENSP00000340111:E245K;ENSP00000344244:E245K;ENSP00000347955:E204K;ENSP00000349045:E245K	ENSP00000340111:E245K	E	-	1	0	NAALADL1	64578657	1.000000	0.71417	0.979000	0.43373	0.757000	0.42996	6.561000	0.73955	1.196000	0.43129	0.655000	0.94253	GAG		0.597	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		T	64822081	C	T	64822081	3	4	619	1	0	0	0	0	1	0	0	0	10131	864	30	2	1545	2	NAALADL1	11	64822081	Missense_Mutation	SNP	C	TCGA-DW-7834-01A-11D-2136-08	16672578	64822081	70184435	33	33733											
PZP	5858	hgsc.bcm.edu	37	12	9356427	9356427	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr12:9356427T>A	ENST00000261336.2	-	2	232	c.204A>T	c.(202-204)gaA>gaT	p.E68D	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	68					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGCTCCTGTTTTCCCTGCCAG	0.557																																					Melanoma(125;1402 1695 4685 34487 38571)											0													114	104	107					12																	9356427		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.204A>T	chr12.hg19:g.9356427T>A	ENSP00000261336:p.Glu68Asp		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	hg19	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	T	0.086	-1.175971	0.01646	.	.	ENSG00000126838	ENST00000261336	T	0.08282	3.11	2.08	-0.306	0.12780	.	1.942830	0.04105	U	0.313539	T	0.10121	0.0248	M	0.70275	2.135	0.09310	N	1	B	0.22683	0.073	B	0.19946	0.027	T	0.42378	-0.9455	10	0.12766	T	0.61	.	4.2572	0.10722	0.0:0.3652:0.0:0.6348	.	68	P20742	PZP_HUMAN	D	68	ENSP00000261336:E68D	ENSP00000261336:E68D	E	-	3	2	PZP	9247694	0.000000	0.05858	0.002000	0.10522	0.396000	0.30629	-1.538000	0.02204	-0.076000	0.12775	0.383000	0.25322	GAA		0.557	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		A	9356427	T	A	9356427	3	1	619	1	0	0	0	0	1	0	0	0	12875	1838	64	5	4384	5	PZP	12	9356427	Missense_Mutation	SNP	T	TCGA-DW-7834-01A-11D-2136-08		9356427	124495468	34	33734											
DNAJC22	79962	hgsc.bcm.edu	37	12	49743366	49743366	+	Silent	SNP	T	T	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr12:49743366T>C	ENST00000549441.2	+	3	1915	c.711T>C	c.(709-711)ctT>ctC	p.L237L	DNAJC22_ENST00000395069.3_Silent_p.L237L			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	237						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TTGTCCTCCTTCTGCCTTACC	0.532																																																0													162	163	163					12																	49743366		2203	4300	6503	SO:0001819	synonymous_variant	79962			AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"Heat shock proteins / DNAJ (HSP40)"	25802	protein-coding gene	gene with protein product	"wurst homolog (Drosophila)"					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.711T>C	chr12.hg19:g.49743366T>C			B3KP54	Silent	SNP	ENST00000549441.2	hg19	CCDS8785.1																																																																																				0.532	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		C	49743366	T	C	49743366	2	2	619	1	0	0	0	0	0	0	0	1	4643	1770	62	3		3	DNAJC22	12	49743366	Silent	SNP	T	TCGA-DW-7834-01A-11D-2136-08	40386939	49743366	84108529	35	33735											
GPR18	2841	hgsc.bcm.edu	37	13	99908051	99908051	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr13:99908051G>C	ENST00000340807.3	-	3	632	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.L26V|GPR18_ENST00000397473.2_Missense_Mutation_p.L26V			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	26					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TAGAAGACAAGGGCTGCAATT	0.388																																																0													131	130	131					13																	99908051		2203	4300	6503	SO:0001583	missense	2841			L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"GPCR / Class A : Orphans"	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.76C>G	chr13.hg19:g.99908051G>C	ENSP00000343428:p.Leu26Val		Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	hg19	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732792	0.48939	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807;ENST00000416594	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.95	5.08	0.68730	.	0.078514	0.52532	D	0.000062	T	0.20047	0.0482	N	0.08118	0	0.58432	D	0.999996	B	0.30605	0.287	B	0.25987	0.065	T	0.05451	-1.0884	9	.	.	.	-16.1138	16.3083	0.82859	0.0:0.0:0.8666:0.1334	.	26	Q14330	GPR18_HUMAN	V	26	ENSP00000380613:L26V;ENSP00000380610:L26V;ENSP00000343428:L26V;ENSP00000401611:L26V	.	L	-	1	0	GPR18	98706052	1.000000	0.71417	0.847000	0.33407	0.750000	0.42670	5.384000	0.66225	1.475000	0.48197	0.563000	0.77884	CTT		0.388	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			C	99908051	G	C	99908051	3	2	619	1	0	0	0	0	1	0	0	0	6677	1000	35	4	923	4	GPR18	13	99908051	Missense_Mutation	SNP	G	TCGA-DW-7834-01A-11D-2136-08		99908051	15261827	36	33736											
SLC7A8	23428	hgsc.bcm.edu	37	14	23607203	23607203	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr14:23607203C>T	ENST00000316902.7	-	7	1668	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	SLC7A8_ENST00000529705.2_Missense_Mutation_p.A210T|SLC7A8_ENST00000453702.1_Missense_Mutation_p.A112T|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000532568.1_5'Flank|SLC7A8_ENST00000422941.2_Missense_Mutation_p.A91T	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	315					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	ATGATCCAGGCCATGACTCCT	0.567																																																0													112	104	107					14																	23607203		2203	4300	6503	SO:0001583	missense	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.943G>A	chr14.hg19:g.23607203C>T	ENSP00000320378:p.Ala315Thr		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	hg19	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222325	0.58560	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000453702;ENST00000529705;ENST00000422941;ENST00000206514	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.44	4.54	0.55810	Amino acid permease domain (1);	0.306262	0.35772	N	0.002981	D	0.87815	0.6272	L	0.48877	1.53	0.49213	D	0.999763	B;B;B	0.28128	0.201;0.118;0.07	B;B;B	0.28305	0.088;0.088;0.038	D	0.86389	0.1734	10	0.72032	D	0.01	.	14.7754	0.69729	0.1459:0.8541:0.0:0.0	.	210;91;315	B4DKT4;B4DTV6;Q9UHI5	.;.;LAT2_HUMAN	T	315;112;112;210;91;112	ENSP00000320378:A315T;ENSP00000391577:A112T;ENSP00000434345:A210T;ENSP00000416398:A91T	ENSP00000206514:A112T	A	-	1	0	SLC7A8	22677043	0.979000	0.34478	1.000000	0.80357	0.997000	0.91878	0.137000	0.15995	1.409000	0.46915	0.563000	0.77884	GCC		0.567	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			T	23607203	C	T	23607203	3	4	619	1	0	0	0	0	1	0	0	0	14710	739	26	2	684	2	SLC7A8	14	23607203	Missense_Mutation	SNP	C	TCGA-DW-7834-01A-11D-2136-08		23607203	83742337	37	33737											
C14orf50	145376	hgsc.bcm.edu	37	14	65032084	65032084	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr14:65032084T>A	ENST00000298705.1	+	5	375	c.279T>A	c.(277-279)gaT>gaA	p.D93E	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	93					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGTTGACAGATAAAAGACTTG	0.338																																																0													91	80	83					14																	65032084		2203	4300	6503	SO:0001583	missense	145376				CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20097	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 50"	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.279T>A	chr14.hg19:g.65032084T>A	ENSP00000298705:p.Asp93Glu		Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	hg19	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	T	8.979	0.974851	0.18736	.	.	ENSG00000165807	ENST00000298705	T	0.31247	1.5	5.79	2.16	0.27623	.	0.198907	0.35320	N	0.003286	T	0.17109	0.0411	L	0.39898	1.24	0.25922	N	0.983102	B	0.24721	0.11	B	0.17433	0.018	T	0.30119	-0.9989	10	0.05959	T	0.93	-17.5714	5.9771	0.19387	0.0:0.0945:0.4215:0.4839	.	93	Q96LQ0	PPR36_HUMAN	E	93	ENSP00000298705:D93E	ENSP00000298705:D93E	D	+	3	2	C14orf50	64101837	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	0.518000	0.22847	0.433000	0.26313	0.533000	0.62120	GAT		0.338	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		A	65032084	T	A	65032084	3	1	619	1	0	0	0	0	1	0	0	0	1779	1403	49	5	297	5	C14orf50	14	65032084	Missense_Mutation	SNP	T	TCGA-DW-7834-01A-11D-2136-08	41424881	65032084	42317456	38	33738											
EIF2S1	1965	hgsc.bcm.edu	37	14	67848335	67848335	+	Silent	SNP	T	T	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr14:67848335T>C	ENST00000256383.4	+	6	1067	c.606T>C	c.(604-606)taT>taC	p.Y202Y	EIF2S1_ENST00000466499.2_Silent_p.Y202Y	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	202					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		GTTATGGTTATGAAGGCATTG	0.343																																																0													89	93	91					14																	67848335		2203	4300	6503	SO:0001819	synonymous_variant	1965			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.606T>C	chr14.hg19:g.67848335T>C				Silent	SNP	ENST00000256383.4	hg19	CCDS9781.1	.	.	.	.	.	.	.	.	.	.	T	9.345	1.063966	0.20067	.	.	ENSG00000134001	ENST00000555876	.	.	.	6.0	2.3	0.28687	.	.	.	.	.	T	0.58779	0.2146	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51052	-0.8754	4	.	.	.	-12.7575	9.7872	0.40684	0.0:0.196:0.0:0.804	.	.	.	.	T	159	.	.	M	+	2	0	EIF2S1	66918088	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.756000	0.38390	0.149000	0.19098	0.528000	0.53228	ATG		0.343	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074342.3	NM_004094		C	67848335	T	C	67848335	2	2	619	1	0	0	0	0	0	0	0	1	5011	1471	51	3		3	EIF2S1	14	67848335	Silent	SNP	T	TCGA-DW-7834-01A-11D-2136-08	2816251	67848335	39501205	39	33739											
KIAA0556	23247	hgsc.bcm.edu	37	16	27720066	27720066	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr16:27720066T>C	ENST00000261588.4	+	13	1449	c.1430T>C	c.(1429-1431)aTc>aCc	p.I477T	CTD-2049O4.1_ENST00000568831.1_RNA|KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	477						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAAGATGCCATCTACGTGACC	0.453																																																0													120	105	110					16																	27720066		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1430T>C	chr16.hg19:g.27720066T>C	ENSP00000261588:p.Ile477Thr		A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	hg19	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818111	0.50633	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.13778	2.56	5.49	4.4	0.53042	.	0.797554	0.11412	N	0.566654	T	0.19886	0.0478	M	0.75264	2.295	0.09310	N	0.999996	B	0.21071	0.051	B	0.19391	0.025	T	0.14008	-1.0488	10	0.51188	T	0.08	-4.828	10.5152	0.44885	0.0:0.0775:0.0:0.9225	.	477	O60303	K0556_HUMAN	T	477;384	ENSP00000261588:I477T	ENSP00000261588:I477T	I	+	2	0	KIAA0556	27627567	0.986000	0.35501	0.001000	0.08648	0.582000	0.36321	3.571000	0.53841	0.912000	0.36772	0.379000	0.24179	ATC		0.453	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		C	27720066	T	C	27720066	3	2	619	1	0	0	0	0	1	0	0	0	8185	1435	50	3	1480	3	KIAA0556	16	27720066	Missense_Mutation	SNP	T	TCGA-DW-7834-01A-11D-2136-08		27720066	62634687	40	33740											
TOP3A	7156	hgsc.bcm.edu	37	17	18212208	18212208	+	Silent	SNP	A	A	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr17:18212208A>G	ENST00000321105.5	-	2	442	c.228T>C	c.(226-228)caT>caC	p.H76H	TOP3A_ENST00000582230.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.I6T	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	76	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGCCATACAGATGATAATCAA	0.289																																																0													36	33	34					17																	18212208		2201	4295	6496	SO:0001819	synonymous_variant	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.228T>C	chr17.hg19:g.18212208A>G			A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	ENST00000321105.5	hg19	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.18|13.18	2.161482|2.161482	0.38119|0.38119	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000542570|ENST00000412083	T|.	0.08282|.	3.11|.	5.04|5.04	-5.1|-5.1	0.02911|0.02911	.|.	.|.	.|.	.|.	.|.	T|T	0.50616|0.50616	0.1626|0.1626	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53258|0.53258	-0.8464|-0.8464	6|4	0.21014|.	T|.	0.42|.	-4.7873|-4.7873	8.3168|8.3168	0.32104|0.32104	0.5159:0.1661:0.3181:0.0|0.5159:0.1661:0.3181:0.0	.|.	.|.	.|.	.|.	T|P	6|56	ENSP00000442336:I6T|.	ENSP00000442336:I6T|.	I|S	-|-	2|1	0|0	TOP3A|TOP3A	18152933|18152933	0.817000|0.817000	0.29147|0.29147	0.469000|0.469000	0.27204|0.27204	0.893000|0.893000	0.52053|0.52053	-0.001000|-0.001000	0.12947|0.12947	-0.503000|-0.503000	0.06586|0.06586	-0.220000|-0.220000	0.12472|0.12472	ATC|TCT		0.289	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			G	18212208	A	G	18212208	2	3	619	1	0	0	0	0	0	0	0	1	16372	330	12	3		3	TOP3A	17	18212208	Silent	SNP	A	TCGA-DW-7834-01A-11D-2136-08		18212208	62983002	41	33741											
EFTUD2	9343	hgsc.bcm.edu	37	17	42945230	42945230	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr17:42945230G>A	ENST00000426333.2	-	13	1391	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	EFTUD2_ENST00000592576.1_Missense_Mutation_p.S355F|EFTUD2_ENST00000591382.1_Missense_Mutation_p.S365F|EFTUD2_ENST00000402521.3_Missense_Mutation_p.S330F	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	365	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ACTTCTCTGGGAGCTGCTAGT	0.483																																					Ovarian(10;65 485 10258 29980 30707)											0													48	47	48					17																	42945230		2203	4300	6503	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1094C>T	chr17.hg19:g.42945230G>A	ENSP00000392094:p.Ser365Phe		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	hg19	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231134	0.79688	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.76839	-1.05;-1.05	6.17	6.17	0.99709	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.81964	0.4934	L	0.56769	1.78	0.80722	D	1	P;P	0.41710	0.76;0.76	P;P	0.47891	0.56;0.56	T	0.77477	-0.2573	10	0.32370	T	0.25	0.1139	20.8794	0.99867	0.0:0.0:1.0:0.0	.	355;365	B4DMC0;Q15029	.;U5S1_HUMAN	F	365;355;330	ENSP00000392094:S365F;ENSP00000385873:S330F	ENSP00000262414:S355F	S	-	2	0	EFTUD2	40300756	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.406000	0.97321	2.941000	0.99782	0.655000	0.94253	TCC		0.483	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		A	42945230	G	A	42945230	3	1	619	1	0	0	0	0	1	0	0	0	4963	1174	41	2	1888	2	EFTUD2	17	42945230	Missense_Mutation	SNP	G	TCGA-DW-7834-01A-11D-2136-08	24733022	42945230	38249980	42	33742											
WNT3	7473	hgsc.bcm.edu	37	17	44845986	44845986	+	Silent	SNP	C	C	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr17:44845986C>T	ENST00000225512.5	-	4	930	c.768G>A	c.(766-768)gtG>gtA	p.V256V		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	256					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGAGGGTCTCCACCCAGCCTC	0.592																																																0													85	91	89					17																	44845986		2203	4300	6503	SO:0001819	synonymous_variant	7473			AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"Wingless-type MMTV integration sites", "Endogenous ligands"	12782	protein-coding gene	gene with protein product	"WNT-3 proto-oncogene protein"	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.768G>A	chr17.hg19:g.44845986C>T			Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	hg19	CCDS11505.1																																																																																				0.592	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		T	44845986	C	T	44845986	2	4	619	1	0	0	0	0	0	0	0	1	17393	581	21	2		2	WNT3	17	44845986	Silent	SNP	C	TCGA-DW-7834-01A-11D-2136-08	1900756	44845986	36349224	43	33743											
RNF213	57674	hgsc.bcm.edu	37	17	78321576	78321576	+	Silent	SNP	C	C	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr17:78321576C>T	ENST00000582970.1	+	29	9584	c.9441C>T	c.(9439-9441)cgC>cgT	p.R3147R	RNF213_ENST00000336301.6_Silent_p.R1220R|RNF213_ENST00000508628.2_Silent_p.R3196R	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3147					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCAACTTCCGCCTGATTGTCA	0.552																																																0													55	53	54					17																	78321576		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9441C>T	chr17.hg19:g.78321576C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	hg19	CCDS58606.1																																																																																				0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		T	78321576	C	T	78321576	2	4	619	1	0	0	0	0	0	0	0	1	13483	726	26	2		2	RNF213	17	78321576	Silent	SNP	C	TCGA-DW-7834-01A-11D-2136-08	33475590	78321576	2873634	44	33744											
AP3D1	8943	hgsc.bcm.edu	37	19	2151253	2151253	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr19:2151253G>C	ENST00000345016.5	-	1	312	c.81C>G	c.(79-81)aaC>aaG	p.N27K	AP3D1_ENST00000355272.6_Missense_Mutation_p.N27K|AP3D1_ENST00000350812.6_Missense_Mutation_p.N27K|AP3D1_ENST00000356926.4_Missense_Mutation_p.N27K	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	27					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCTTGTGGTTACGGATGC	0.682																																																0													29	32	31					19																	2151253		1958	4139	6097	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.81C>G	chr19.hg19:g.2151253G>C	ENSP00000344055:p.Asn27Lys		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	hg19	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717231	0.48622	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.18657	2.2;2.65;2.62;2.21	3.89	2.85	0.33270	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.32436	0.0829	L	0.40543	1.245	0.25610	N	0.986508	B;B;D	0.67145	0.264;0.058;0.996	B;B;D	0.78314	0.033;0.067;0.991	T	0.02860	-1.1101	10	0.52906	T	0.07	-55.1245	9.2068	0.37293	0.1883:0.0:0.8117:0.0	.	27;27;27	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	K	27	ENSP00000349398:N27K;ENSP00000344055:N27K;ENSP00000347416:N27K;ENSP00000342321:N27K	ENSP00000341579:N27K	N	-	3	2	AP3D1	2102253	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.691000	0.37721	0.971000	0.38288	0.436000	0.28706	AAC		0.682	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			C	2151253	G	C	2151253	3	2	619	1	0	0	0	0	1	0	0	0	746	1252	44	4	3658	4	AP3D1	19	2151253	Missense_Mutation	SNP	G	TCGA-DW-7834-01A-11D-2136-08		2151253	56977730	45	33745											
PSMC4	5704	hgsc.bcm.edu	37	19	40478461	40478461	+	Splice_Site	SNP	A	A	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr19:40478461A>G	ENST00000157812.2	+	3	519	c.321A>G	c.(319-321)acA>acG	p.T107T	PSMC4_ENST00000455878.2_Splice_Site_p.T76T	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	107					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|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)|proteolysis (GO:0006508)|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)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCTCTACCACAGGTGTGCTAA	0.512																																					Colon(105;1478 1543 4034 6132 38638)											0													41	36	38					19																	40478461		2203	4300	6503	SO:0001630	splice_region_variant	5704			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.322+1A>G	chr19.hg19:g.40478461A>G			Q96FV5|Q9UBM3|Q9UEX3	Silent	SNP	ENST00000157812.2	hg19	CCDS12547.1																																																																																				0.512	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503	Silent	G	40478461	A	G	40478461	5	3	619	1	0	0	0	0	0	0	1	0	12694	202	7	3	331	3	PSMC4	19	40478461	Splice_Site	SNP	A	TCGA-DW-7834-01A-11D-2136-08	38327208	40478461	18650522	46	33746											
MEGF8	1954	hgsc.bcm.edu	37	19	42861598	42861598	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr19:42861598C>G	ENST00000251268.6	+	28	4873	c.4873C>G	c.(4873-4875)Ctt>Gtt	p.L1625V	MEGF8_ENST00000334370.4_Missense_Mutation_p.L1558V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1625					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGTCACACCCTTACTGCCCG	0.652																																																0													67	68	67					19																	42861598		2203	4300	6503	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4873C>G	chr19.hg19:g.42861598C>G	ENSP00000251268:p.Leu1625Val		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	hg19		.	.	.	.	.	.	.	.	.	.	C	22.5	4.302490	0.81136	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.64438	-0.1;-0.1	5.21	5.21	0.72293	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.56097	D	0.000038	T	0.74913	0.3779	L	0.50333	1.59	0.80722	D	1	D;D	0.63046	0.992;0.99	P;D	0.72982	0.792;0.979	T	0.76110	-0.3079	10	0.56958	D	0.05	-13.3833	17.5358	0.87830	0.0:1.0:0.0:0.0	.	1625;1558	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	V	1558;1625	ENSP00000334219:L1558V;ENSP00000251268:L1625V	ENSP00000251268:L1625V	L	+	1	0	MEGF8	47553438	1.000000	0.71417	0.980000	0.43619	0.985000	0.73830	4.334000	0.59291	2.453000	0.82957	0.563000	0.77884	CTT		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		G	42861598	C	G	42861598	3	3	619	1	0	0	0	0	1	0	0	0	9465	681	24	4	4778	4	MEGF8	19	42861598	Missense_Mutation	SNP	C	TCGA-DW-7834-01A-11D-2136-08	2383137	42861598	16267385	47	33747											
NRIP1	8204	hgsc.bcm.edu	37	21	16337670	16337670	+	Silent	SNP	A	A	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr21:16337670A>G	ENST00000400202.1	-	3	3556	c.2844T>C	c.(2842-2844)gaT>gaC	p.D948D	NRIP1_ENST00000400199.1_Silent_p.D948D|NRIP1_ENST00000318948.4_Silent_p.D948D|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	948	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GCGGGGACAAATCTCGCACAC	0.428																																																0													82	82	82					21																	16337670		2203	4299	6502	SO:0001819	synonymous_variant	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2844T>C	chr21.hg19:g.16337670A>G			Q8IWE8	Silent	SNP	ENST00000400202.1	hg19	CCDS13568.1																																																																																				0.428	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		G	16337670	A	G	16337670	2	3	619	1	0	0	0	0	0	0	0	1	10654	98	4	3		3	NRIP1	21	16337670	Silent	SNP	A	TCGA-DW-7834-01A-11D-2136-08		16337670	31792225	48	33748											
NCAM2	4685	hgsc.bcm.edu	37	21	22658662	22658662	+	Silent	SNP	A	A	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr21:22658662A>T	ENST00000400546.1	+	4	660	c.411A>T	c.(409-411)cgA>cgT	p.R137R	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Silent_p.R162R|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	137	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGGTTTGCCGAGTTAGCAGTT	0.398																																																0													119	114	116					21																	22658662		2019	4192	6211	SO:0001819	synonymous_variant	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.411A>T	chr21.hg19:g.22658662A>T			A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	hg19	CCDS42910.1																																																																																				0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		T	22658662	A	T	22658662	2	4	619	1	0	0	0	0	0	0	0	1	10205	291	11	5		5	NCAM2	21	22658662	Silent	SNP	A	TCGA-DW-7834-01A-11D-2136-08	6320992	22658662	25471233	49	33749											
SON	6651	hgsc.bcm.edu	37	21	34932382	34932382	+	Intron	SNP	A	A	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr21:34932382A>G	ENST00000356577.4	+	6	7132				SON_ENST00000290239.6_Intron|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.N2286S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein						cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCAAGGTACAACTATTTAGCT	0.473																																																0													149	142	145					21																	34932382		2203	4300	6503	SO:0001627	intron_variant	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6657+301A>G	chr21.hg19:g.34932382A>G			D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	hg19	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.907015	0.33628	.	.	ENSG00000159140	ENST00000300278	T	0.09630	2.96	5.58	5.58	0.84498	.	.	.	.	.	T	0.32071	0.0817	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.03922	-1.0992	8	0.87932	D	0	.	12.1393	0.53989	1.0:0.0:0.0:0.0	.	2286	P18583-3	.	S	2286	ENSP00000300278:N2286S	ENSP00000300278:N2286S	N	+	2	0	SON	33854252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.247000	0.58750	2.124000	0.65301	0.460000	0.39030	AAC		0.473	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		G	34932382	A	G	34932382	1	3	619	0	1	0	0	0	0	0	0	0	14932	43	2	3		3	SON	21	34932382	Intron	SNP	A	TCGA-DW-7834-01A-11D-2136-08	12273720	34932382	13197513	50	33750											
RHBDD3	25807	hgsc.bcm.edu	37	22	29656765	29656765	+	Silent	SNP	C	C	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr22:29656765C>A	ENST00000216085.7	-	5	1045	c.621G>T	c.(619-621)ggG>ggT	p.G207G	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	207					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						GGGGCCAGCACCCCGCCAAGG	0.692																																																0													17	17	17					22																	29656765		2198	4291	6489	SO:0001819	synonymous_variant	25807			AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 3"	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.621G>T	chr22.hg19:g.29656765C>A			Q6I9X3|Q9UGQ7	Silent	SNP	ENST00000216085.7	hg19	CCDS13850.1																																																																																				0.692	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		A	29656765	C	A	29656765	2	1	619	1	0	0	0	0	0	0	0	1	13324	494	18	4		4	RHBDD3	22	29656765	Silent	SNP	C	TCGA-DW-7834-01A-11D-2136-08		29656765	21647801	51	33751											
MAP7D3	79649	hgsc.bcm.edu	37	X	135314169	135314169	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chrX:135314169T>C	ENST00000316077.9	-	8	1167	c.947A>G	c.(946-948)aAc>aGc	p.N316S	MAP7D3_ENST00000370661.1_Missense_Mutation_p.N281S|MAP7D3_ENST00000370663.5_Missense_Mutation_p.N298S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	316					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CATGCTTGTGTTGCAGAATAC	0.567																																																0													167	168	168					X																	135314169		2132	4212	6344	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.947A>G	chrX.hg19:g.135314169T>C	ENSP00000318086:p.Asn316Ser		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	hg19	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	4.011	-0.000557	0.07819	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	3.62	-1.54	0.08584	.	.	.	.	.	T	0.07773	0.0195	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.26258	0.09;0.126;0.09;0.145	B;B;B;B	0.26614	0.032;0.039;0.032;0.071	T	0.44467	-0.9326	9	0.13108	T	0.6	0.3015	8.6543	0.34053	0.0:0.6237:0.0:0.3763	.	298;275;316;281	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	S	281;316;298;275	ENSP00000359695:N281S;ENSP00000318086:N316S;ENSP00000359697:N298S;ENSP00000359694:N275S	ENSP00000318086:N316S	N	-	2	0	MAP7D3	135141835	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.087000	0.14958	-0.273000	0.09246	-0.463000	0.05309	AAC		0.567	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			C	135314169	T	C	135314169	3	2	619	1	0	0	0	0	1	0	0	0	9271	1725	60	3	1727	3	MAP7D3	23	135314169	Missense_Mutation	SNP	T	TCGA-DW-7834-01A-11D-2136-08		135314169	19956391	52	33752											
NUDC	10726	hgsc.bcm.edu	37	1	27271886	27271886	+	Silent	SNP	T	T	C			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr1:27271886T>C	ENST00000321265.5	+	7	870	c.747T>C	c.(745-747)aaT>aaC	p.N249N	NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	249	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CACAGATCAATAAGATGGAGT	0.537																																																0													59	53	55					1																	27271886		2203	4300	6503	SO:0001819	synonymous_variant	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"nuclear distribution gene C homolog (A. nidulans)", "nuclear distribution C homolog (A. nidulans)"				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.747T>C	chr1.hg19:g.27271886T>C			Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Silent	SNP	ENST00000321265.5	hg19	CCDS292.1																																																																																				0.537	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			C	27271886	T	C	27271886	2	2	620	1	0	0	0	0	0	0	0	1	10723	1403	49	3		3	NUDC	1	27271886	Silent	SNP	T	TCGA-DW-7836-01A-11D-2136-08		27271886	221978735	1	33753											
DUSP23	54935	hgsc.bcm.edu	37	1	159752041	159752041	+	Silent	SNP	T	T	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr1:159752041T>A	ENST00000368107.1	+	2	464	c.366T>A	c.(364-366)atT>atA	p.I122I	DUSP23_ENST00000368109.1_Silent_p.I122I|DUSP23_ENST00000368108.3_Silent_p.I122I			Q9BVJ7	DUS23_HUMAN	dual specificity phosphatase 23	122	Tyrosine-protein phosphatase.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			lung(1)	1	all_hematologic(112;0.0537)					GAGATGCCATTGCTGAAATCC	0.577																																																0													119	108	112					1																	159752041		2203	4300	6503	SO:0001819	synonymous_variant	54935				CCDS1187.1	1q23.1	2011-06-09			ENSG00000158716	ENSG00000158716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	21480	protein-coding gene	gene with protein product						15147733	Standard	XM_005245289		Approved	FLJ20442, DUSP25	uc001ftz.1	Q9BVJ7	OTTHUMG00000022795	ENST00000368107.1:c.366T>A	chr1.hg19:g.159752041T>A			Q9NX48	Silent	SNP	ENST00000368107.1	hg19	CCDS1187.1																																																																																				0.577	DUSP23-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085552.1	NM_017823		A	159752041	T	A	159752041	2	1	620	1	0	0	0	0	0	0	0	1	4824	1800	63	5		5	DUSP23	1	159752041	Silent	SNP	T	TCGA-DW-7836-01A-11D-2136-08	132480155	159752041	89498580	2	33754											
TOMM40L	84134	hgsc.bcm.edu	37	1	161197494	161197494	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr1:161197494G>T	ENST00000367988.3	+	5	614	c.345G>T	c.(343-345)ttG>ttT	p.L115F	TOMM40L_ENST00000474486.1_Intron|TOMM40L_ENST00000545897.1_Intron|NR1I3_ENST00000479324.1_5'Flank|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000367987.1_Missense_Mutation_p.L115F	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	115					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCTCCTCTTGGCAGAGCGGC	0.582											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													60	54	56					1																	161197494		2203	4300	6503	SO:0001583	missense	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"translocase of outer mitochondrial membrane 40 homolog-like (yeast)"				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.345G>T	chr1.hg19:g.161197494G>T	ENSP00000356967:p.Leu115Phe	1814	B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	hg19	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574862	0.45902	.	.	ENSG00000158882	ENST00000367988;ENST00000542686;ENST00000367987	T;T	0.50001	0.76;0.76	5.49	4.52	0.55395	.	0.140087	0.48767	D	0.000176	T	0.20659	0.0497	L	0.29908	0.895	0.43971	D	0.996654	B	0.13145	0.007	B	0.20955	0.032	T	0.04427	-1.0952	9	0.24483	T	0.36	-10.7345	13.4834	0.61351	0.0:0.1581:0.8419:0.0	.	115	Q969M1	TM40L_HUMAN	F	115;62;115	ENSP00000356967:L115F;ENSP00000356966:L115F	ENSP00000356966:L115F	L	+	3	2	TOMM40L	159464118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.926000	0.28804	2.578000	0.87016	0.655000	0.94253	TTG		0.582	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		T	161197494	G	T	161197494	3	4	620	1	0	0	0	0	1	0	0	0	16364	1339	47	4	359	4	TOMM40L	1	161197494	Missense_Mutation	SNP	G	TCGA-DW-7836-01A-11D-2136-08	1445453	161197494	88053127	3	33755											
CACNA1S	779	hgsc.bcm.edu	37	1	201013478	201013478	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr1:201013478G>A	ENST00000362061.3	-	39	5001	c.4775C>T	c.(4774-4776)gCg>gTg	p.A1592V	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.A1573V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1592					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCTCCATCGCAGCCTCCAC	0.622																																																0													86	72	77					1																	201013478		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4775C>T	chr1.hg19:g.201013478G>A	ENSP00000355192:p.Ala1592Val		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	hg19	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.581852	0.65992	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96334	-3.98;-3.89	4.98	4.98	0.66077	.	0.913156	0.09136	N	0.843670	D	0.94974	0.8374	M	0.69358	2.11	0.46011	D	0.99881	P	0.36909	0.573	B	0.25759	0.063	D	0.91638	0.5324	10	0.38643	T	0.18	.	18.2653	0.90050	0.0:0.0:1.0:0.0	.	1592	Q13698	CAC1S_HUMAN	V	1592;1573	ENSP00000355192:A1592V;ENSP00000356307:A1573V	ENSP00000355192:A1592V	A	-	2	0	CACNA1S	199280101	1.000000	0.71417	0.604000	0.28916	0.956000	0.61745	5.418000	0.66429	2.304000	0.77564	0.555000	0.69702	GCG		0.622	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		A	201013478	G	A	201013478	3	1	620	1	0	0	0	0	1	0	0	0	2549	1087	38	1	870	1	CACNA1S	1	201013478	Missense_Mutation	SNP	G	TCGA-DW-7836-01A-11D-2136-08	39815984	201013478	48237143	4	33756											
ERO1LB	56605	hgsc.bcm.edu	37	1	236385229	236385229	+	Silent	SNP	A	A	G			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr1:236385229A>G	ENST00000354619.5	-	14	1405	c.1204T>C	c.(1204-1206)Tta>Cta	p.L402L		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	402					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TATACCTGTAATTTTCCCCAT	0.343																																																0													103	101	102					1																	236385229		2202	4300	6502	SO:0001819	synonymous_variant	56605			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.1204T>C	chr1.hg19:g.236385229A>G			B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Silent	SNP	ENST00000354619.5	hg19	CCDS31064.1																																																																																				0.343	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		G	236385229	A	G	236385229	2	3	620	1	0	0	0	0	0	0	0	1	5242	98	4	3		3	ERO1LB	1	236385229	Silent	SNP	A	TCGA-DW-7836-01A-11D-2136-08	35371751	236385229	12865392	5	33757											
OR2AK2	391191	hgsc.bcm.edu	37	1	248129596	248129596	+	Silent	SNP	A	A	G			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr1:248129596A>G	ENST00000366480.3	+	1	1062	c.963A>G	c.(961-963)ggA>ggG	p.G321G	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GACTGTTGGGATATTGGATAT	0.393																																					Melanoma(45;390 1181 23848 28461 41504)											0													99	96	97					1																	248129596		2203	4300	6503	SO:0001819	synonymous_variant	391191			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.963A>G	chr1.hg19:g.248129596A>G			B2RND1|Q6IF05	Silent	SNP	ENST00000366480.3	hg19	CCDS31102.1																																																																																				0.393	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		G	248129596	A	G	248129596	2	3	620	1	0	0	0	0	0	0	0	1	10988	320	12	3		3	OR2AK2	1	248129596	Silent	SNP	A	TCGA-DW-7836-01A-11D-2136-08	11744367	248129596	1121025	6	33758											
LTBP1	4052	hgsc.bcm.edu	37	2	33246142	33246142	+	Silent	SNP	T	T	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr2:33246142T>A	ENST00000404816.2	+	3	1085	c.732T>A	c.(730-732)ccT>ccA	p.P244P	LTBP1_ENST00000354476.3_Silent_p.P244P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	244					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CGTGGGGCCCTCCTGAGCAAG	0.567																																																0													109	111	110					2																	33246142		2203	4300	6503	SO:0001819	synonymous_variant	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.732T>A	chr2.hg19:g.33246142T>A			A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	hg19	CCDS33177.2																																																																																				0.567	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		A	33246142	T	A	33246142	2	1	620	1	0	0	0	0	0	0	0	1	9075	1538	54	5		5	LTBP1	2	33246142	Silent	SNP	T	TCGA-DW-7836-01A-11D-2136-08		33246142	209953231	7	33759											
LYG2	254773	hgsc.bcm.edu	37	2	99861757	99861757	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr2:99861757C>A	ENST00000409238.1	-	3	369	c.349G>T	c.(349-351)Gac>Tac	p.D117Y	LYG2_ENST00000409679.1_Missense_Mutation_p.D117Y|LYG2_ENST00000423800.1_Missense_Mutation_p.D117Y|LYG2_ENST00000333017.2_Missense_Mutation_p.D117Y			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	117					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CCCCTGTGGTCCCAGCCGTCT	0.522																																																0													102	94	97					2																	99861757		2203	4300	6503	SO:0001583	missense	254773			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.349G>T	chr2.hg19:g.99861757C>A	ENSP00000386939:p.Asp117Tyr		Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	hg19	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589375	0.66105	.	.	ENSG00000185674	ENST00000409238;ENST00000333017;ENST00000409679;ENST00000423306	.	.	.	5.78	4.91	0.64330	Lytic transglycosylase-like, catalytic (1);Lysozyme-like domain (1);	0.174545	0.40728	N	0.001027	T	0.69450	0.3112	M	0.63428	1.95	0.37969	D	0.933212	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66847	0.947;0.947;0.947	T	0.73113	-0.4085	8	.	.	.	-2.2835	10.7149	0.46006	0.0:0.9126:0.0:0.0874	.	117;117;117	Q496G2;C9J4J0;Q86SG7	.;.;LYG2_HUMAN	Y	117	.	.	D	-	1	0	LYG2	99228189	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	2.364000	0.44187	1.465000	0.48006	0.555000	0.69702	GAC		0.522	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		A	99861757	C	A	99861757	3	1	620	1	0	0	0	0	1	0	0	0	9107	855	30	4	301	4	LYG2	2	99861757	Missense_Mutation	SNP	C	TCGA-DW-7836-01A-11D-2136-08	66615615	99861757	143337616	8	33760											
ALS2	57679	hgsc.bcm.edu	37	2	202606404	202606404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr2:202606404delA	ENST00000264276.6	-	11	2716	c.2344delT	c.(2344-2346)tatfs	p.Y782fs	ALS2_ENST00000457679.2_Frame_Shift_Del_p.Y94fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	782	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGCTCTGTATAACTATCCAAG	0.463																																																0													63	60	61					2																	202606404		1893	4121	6014	SO:0001589	frameshift_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2344delT	chr2.hg19:g.202606404delA	ENSP00000264276:p.Tyr782fs		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Del	DEL	ENST00000264276.6	hg19	CCDS42800.1																																																																																				0.463	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		-	202606404	A	-	202606404	7	5	620	1	0	1	0	1	0	0	0	0	550	362	13	0	2725	0	ALS2	2	202606404	Frame_Shift_Del	DEL	A	TCGA-DW-7836-01A-11D-2136-08	102744647	202606404	40592969	9	33761											
TNS1	7145	hgsc.bcm.edu	37	2	218749811	218749811	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr2:218749811A>T	ENST00000171887.4	-	14	1270	c.818T>A	c.(817-819)aTc>aAc	p.I273N	TNS1_ENST00000419504.1_Missense_Mutation_p.I273N|TNS1_ENST00000430930.1_Missense_Mutation_p.I273N|TNS1_ENST00000310858.6_Missense_Mutation_p.I304N	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	273	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAGGTCATGGATGGCACAGGT	0.592																																																0													140	113	122					2																	218749811		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.818T>A	chr2.hg19:g.218749811A>T	ENSP00000171887:p.Ile273Asn		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	hg19	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.9|22.9	4.347781|4.347781	0.82022|0.82022	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000453356|ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	.|D;D;D;D;D;D	.|0.89270	.|-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	4.83|4.83	4.83|4.83	0.62350|0.62350	.|Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.358725	.|0.30227	.|N	.|0.010111	D|D	0.94019|0.94019	0.8084|0.8084	M|M	0.79805|0.79805	2.47|2.47	0.47276|0.47276	D|D	0.999373|0.999373	.|D;D;D;D;D;D	.|0.76494	.|0.999;0.995;0.961;0.993;0.999;0.999	.|D;D;P;D;D;D	.|0.71184	.|0.972;0.961;0.828;0.942;0.972;0.972	D|D	0.94788|0.94788	0.7959|0.7959	5|10	.|0.87932	.|D	.|0	.|.	14.2677|14.2677	0.66129|0.66129	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|273;327;304;273;273;273	.|B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.|.;.;.;TENS1_HUMAN;.;.	Q|N	48|273;273;273;398;341;304	.|ENSP00000171887:I273N;ENSP00000408724:I273N;ENSP00000406016:I273N;ENSP00000405460:I398N;ENSP00000400383:I341N;ENSP00000308321:I304N	.|ENSP00000171887:I273N	H|I	-|-	3|2	2|0	TNS1|TNS1	218458056|218458056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.004000|9.004000	0.93583|0.93583	2.021000|2.021000	0.59480|0.59480	0.460000|0.460000	0.39030|0.39030	CAT|ATC		0.592	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		T	218749811	A	T	218749811	3	4	620	1	0	0	0	0	1	0	0	0	16348	333	12	5	4469	5	TNS1	2	218749811	Missense_Mutation	SNP	A	TCGA-DW-7836-01A-11D-2136-08	16143407	218749811	24449562	10	33762											
RBM5	10181	hgsc.bcm.edu	37	3	50129618	50129618	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr3:50129618T>G	ENST00000347869.3	+	3	335	c.160T>G	c.(160-162)Tac>Gac	p.Y54D	RBM5_ENST00000469838.1_Missense_Mutation_p.Y54D	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	54				DY -> GS (in Ref. 1; AAA99715). {ECO:0000305}.	apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATATGATGACTACCGAGACTA	0.498																																																0													102	94	97					3																	50129618		2203	4300	6503	SO:0001583	missense	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.160T>G	chr3.hg19:g.50129618T>G	ENSP00000343054:p.Tyr54Asp		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	hg19	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310260	0.23821	.	.	ENSG00000003756	ENST00000347869;ENST00000469838;ENST00000404526;ENST00000536082;ENST00000441305;ENST00000437500;ENST00000417905;ENST00000543047;ENST00000539538	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.83	3.63	0.41609	.	0.293852	0.33610	N	0.004734	T	0.26122	0.0637	N	0.22421	0.69	0.44523	D	0.997476	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.06499	-1.0823	9	.	.	.	-8.6199	10.5358	0.45002	0.0:0.0795:0.0:0.9204	.	54;54	P52756;E1CJT4	RBM5_HUMAN;.	D	54;54;54;54;54;54;54;53;53	ENSP00000343054:Y54D;ENSP00000419534:Y54D;ENSP00000390711:Y54D;ENSP00000406119:Y54D	.	Y	+	1	0	RBM5	50104622	0.998000	0.40836	1.000000	0.80357	0.820000	0.46376	1.836000	0.39191	2.037000	0.60232	0.450000	0.29827	TAC		0.498	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		G	50129618	T	G	50129618	3	3	620	1	0	0	0	0	1	0	0	0	13149	1522	53	5	166	5	RBM5	3	50129618	Missense_Mutation	SNP	T	TCGA-DW-7836-01A-11D-2136-08		50129618	147892812	11	33763											
NPY2R	4887	hgsc.bcm.edu	37	4	156136064	156136064	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr4:156136064T>C	ENST00000329476.3	+	2	1462	c.973T>C	c.(973-975)Tat>Cat	p.Y325H	NPY2R_ENST00000506608.1_Missense_Mutation_p.Y325H	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	325					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TCCCCTTCTCTATGGCTGGAT	0.512																																																0													114	96	102					4																	156136064		2203	4300	6503	SO:0001583	missense	4887			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.973T>C	chr4.hg19:g.156136064T>C	ENSP00000332591:p.Tyr325His		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	hg19	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198384	0.79015	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	D;D	0.93247	-3.19;-3.19	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98353	0.9453	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99659	1.0993	10	0.87932	D	0	.	15.2138	0.73247	0.0:0.0:0.0:1.0	.	325	P49146	NPY2R_HUMAN	H	325	ENSP00000332591:Y325H;ENSP00000426366:Y325H	ENSP00000332591:Y325H	Y	+	1	0	NPY2R	156355514	1.000000	0.71417	0.976000	0.42696	0.970000	0.65996	8.040000	0.89188	2.189000	0.69895	0.523000	0.50628	TAT		0.512	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		C	156136064	T	C	156136064	3	2	620	1	0	0	0	0	1	0	0	0	10611	1522	53	3	975	3	NPY2R	4	156136064	Missense_Mutation	SNP	T	TCGA-DW-7836-01A-11D-2136-08		156136064	35018212	12	33764											
KCNQ5	56479	hgsc.bcm.edu	37	6	73904447	73904447	+	Silent	SNP	C	C	T			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr6:73904447C>T	ENST00000370398.1	+	14	2218	c.2109C>T	c.(2107-2109)taC>taT	p.Y703Y	KCNQ5_ENST00000414165.2_Silent_p.Y593Y|KCNQ5_ENST00000342056.2_Silent_p.Y722Y|KCNQ5_ENST00000403813.2_Silent_p.Y694Y|KCNQ5_ENST00000402622.2_Silent_p.Y713Y|KCNQ5_ENST00000355635.3_Silent_p.Y704Y|KCNQ5_ENST00000355194.4_Silent_p.Y703Y	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	703					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	AGACTTTCTACGCGCTTAGCC	0.493																																					GBM(142;1375 1859 14391 23261 44706)											0													132	131	132					6																	73904447		2203	4300	6503	SO:0001819	synonymous_variant	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2109C>T	chr6.hg19:g.73904447C>T			A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	hg19	CCDS4976.1																																																																																				0.493	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		T	73904447	C	T	73904447	2	4	620	1	0	0	0	0	0	0	0	1	8088	547	19	1		1	KCNQ5	6	73904447	Silent	SNP	C	TCGA-DW-7836-01A-11D-2136-08		73904447	97210620	13	33765											
SLC26A4	5172	hgsc.bcm.edu	37	7	107335130	107335130	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr7:107335130C>A	ENST00000265715.3	+	12	1630	c.1406C>A	c.(1405-1407)cCt>cAt	p.P469H	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.P30H|SLC26A4_ENST00000544569.1_Missense_Mutation_p.P56H|SLC26A4_ENST00000543100.1_Missense_Mutation_p.P38H	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	469					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGTGACATTCCTCGTCTGTGG	0.428									Pendred syndrome																																							0													174	156	162					7																	107335130		2203	4300	6503	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1406C>A	chr7.hg19:g.107335130C>A	ENSP00000265715:p.Pro469His		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	hg19	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657406	0.88154	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94897	-3.13;-3.55;-3.13;-3.13	5.66	5.66	0.87406	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97835	0.9289	M	0.89904	3.07	0.58432	D	0.999998	D;D;P	0.89917	1.0;1.0;0.932	D;D;P	0.97110	0.999;1.0;0.599	D	0.97207	0.9868	10	0.42905	T	0.14	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	30;56;469	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	H	469;30;56;38	ENSP00000265715:P469H;ENSP00000439743:P30H;ENSP00000437427:P56H;ENSP00000441209:P38H	ENSP00000265715:P469H	P	+	2	0	SLC26A4	107122366	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.145000	0.77365	2.826000	0.97356	0.655000	0.94253	CCT		0.428	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		A	107335130	C	A	107335130	3	1	620	1	0	0	0	0	1	0	0	0	14525	681	24	4	1448	4	SLC26A4	7	107335130	Missense_Mutation	SNP	C	TCGA-DW-7836-01A-11D-2136-08		107335130	51803533	14	33766											
ADAM32	203102	hgsc.bcm.edu	37	8	39068760	39068760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr8:39068760C>T	ENST00000379907.4	+	12	1277	c.1150C>T	c.(1150-1152)Caa>Taa	p.Q384*	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	384						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GAATAAGCCACAAATGCAAAA	0.393																																																0													82	78	79					8																	39068760		1816	4089	5905	SO:0001587	stop_gained	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1150C>T	chr8.hg19:g.39068760C>T	ENSP00000369238:p.Gln384*		Q8TC42	Nonsense_Mutation	SNP	ENST00000379907.4	hg19	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618144	0.87359	.	.	ENSG00000197140	ENST00000379907	.	.	.	5.23	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	11.6429	0.51244	0.177:0.823:0.0:0.0	.	.	.	.	X	384	.	ENSP00000369238:Q384X	Q	+	1	0	ADAM32	39187917	0.013000	0.17824	0.987000	0.45799	0.438000	0.31896	0.452000	0.21795	2.585000	0.87301	0.650000	0.86243	CAA		0.393	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		T	39068760	C	T	39068760	4	4	620	1	0	0	0	0	0	1	0	0	249	479	17	2	1196	2	ADAM32	8	39068760	Nonsense_Mutation	SNP	C	TCGA-DW-7836-01A-11D-2136-08		39068760	107295262	15	33767											
CSMD3	114788	hgsc.bcm.edu	37	8	113697849	113697849	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr8:113697849delC	ENST00000297405.5	-	15	2512	c.2268delG	c.(2266-2268)gggfs	p.G756fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.G756fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.G716fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.G652fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	756	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTATCCGGCTCCCTGGATCAG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													100	107	105					8																	113697849		2203	4300	6503	SO:0001589	frameshift_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2268delG	chr8.hg19:g.113697849delC	ENSP00000297405:p.Gly756fs		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	hg19	CCDS6315.1																																																																																				0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		-	113697849	C	-	113697849	7	5	620	1	0	1	0	1	0	0	0	0	3948	842	30	0	9083	0	CSMD3	8	113697849	Frame_Shift_Del	DEL	C	TCGA-DW-7836-01A-11D-2136-08	74629089	113697849	32666173	16	33768	254	3									
CSMD3	114788	hgsc.bcm.edu	37	8	113697851	113697852	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr8:113697851_113697852delCT	ENST00000297405.5	-	15	2509_2510	c.2265_2266delAG	c.(2263-2268)ccagggfs	p.G756fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.G756fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.G716fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.G652fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	756	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCCGGCTCCCTGGATCAGAGA	0.416										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0																																										SO:0001589	frameshift_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2265_2266delAG	chr8.hg19:g.113697851_113697852delCT	ENSP00000297405:p.Gly756fs		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	hg19	CCDS6315.1																																																																																				0.416	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		-	113697852	CT	-	113697851	7	5	620	1	0	1	0	1	0	0	0	0	3948	681	24	0	9085	0	CSMD3	8	113697851	Frame_Shift_Del	DEL	CT	TCGA-DW-7836-01A-11D-2136-08	2	113697851	32666171	17	33769	254	3									
CSMD3	114788	hgsc.bcm.edu	37	8	113697852	113697852	+	Silent	SNP	T	T	G			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr8:113697852T>G	ENST00000297405.5	-	15	2509	c.2265A>C	c.(2263-2265)ccA>ccC	p.P755P	CSMD3_ENST00000352409.3_Silent_p.P755P|CSMD3_ENST00000343508.3_Silent_p.P715P|CSMD3_ENST00000455883.2_Silent_p.P651P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	755	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCGGCTCCCTGGATCAGAGA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													100	108	105					8																	113697852		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2265A>C	chr8.hg19:g.113697852T>G			Q96PZ3	Silent	SNP	ENST00000297405.5	hg19	CCDS6315.1																																																																																				0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		G	113697852	T	G	113697852	2	3	620	1	0	0	0	0	0	0	0	1	3948	1567	55	5		5	CSMD3	8	113697852	Silent	SNP	T	TCGA-DW-7836-01A-11D-2136-08	1	113697852	32666170	18	33770	254	3									
MRC1	4360	hgsc.bcm.edu	37	10	17891759	17891759	+	Silent	SNP	C	C	T			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr10:17891759C>T	ENST00000331429.2	+	7	1343	c.1240C>T	c.(1240-1242)Cta>Tta	p.L414L	MRC1L1_ENST00000457317.1_Silent_p.L414L																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATCTCCCAGCTAGGATATGG	0.438																																																0													161	174	170					10																	17891759		2158	4135	6293	SO:0001819	synonymous_variant	4360																														ENST00000331429.2:c.1240C>T	chr10.hg19:g.17891759C>T				Silent	SNP	ENST00000331429.2	hg19																																																																																					0.438	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			T	17891759	C	T	17891759	2	4	620	1	0	0	0	0	0	0	0	1	9758	796	28	2		2	MRC1	10	17891759	Silent	SNP	C	TCGA-DW-7836-01A-11D-2136-08		17891759	117642988	19	33771											
PPP3CB	5532	hgsc.bcm.edu	37	10	75214208	75214208	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr10:75214208T>C	ENST00000360663.5	-	10	1259	c.1148A>G	c.(1147-1149)gAt>gGt	p.D383G	PPP3CB_ENST00000544628.1_Missense_Mutation_p.D11G|PPP3CB_ENST00000394822.2_Missense_Mutation_p.D401G|PPP3CB_ENST00000342558.3_Missense_Mutation_p.D383G|PPP3CB_ENST00000394829.2_Missense_Mutation_p.D383G|PPP3CB_ENST00000545874.1_Missense_Mutation_p.D297G|PPP3CB_ENST00000394828.2_Missense_Mutation_p.D383G			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	383					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TAGTTCATCATCAGAGCAAAT	0.313																																																0													143	136	138					10																	75214208		2203	4298	6501	SO:0001583	missense	5532			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9315	protein-coding gene	gene with protein product	"calcineurin A beta", "protein phosphatase 2B, catalytic subunit, beta isoform"	114106	"protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)", "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1148A>G	chr10.hg19:g.75214208T>C	ENSP00000353881:p.Asp383Gly		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	hg19	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368061	0.82463	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000394823;ENST00000544628;ENST00000430762;ENST00000342558;ENST00000545874;ENST00000394822	T;T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39;3.39	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	M	0.64676	1.99	0.80722	D	1	D;P;B;P;B	0.54047	0.964;0.586;0.052;0.819;0.022	P;P;B;B;B	0.56127	0.792;0.46;0.029;0.345;0.018	T	0.00057	-1.2173	10	0.56958	D	0.05	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	401;297;383;383;383	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	G	383;383;383;46;11;36;383;297;401	ENSP00000353881:D383G;ENSP00000378306:D383G;ENSP00000378305:D383G;ENSP00000437596:D11G;ENSP00000343147:D383G;ENSP00000439876:D297G;ENSP00000378299:D401G	ENSP00000343147:D383G	D	-	2	0	PPP3CB	74884214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.841000	0.86834	2.291000	0.77112	0.533000	0.62120	GAT		0.313	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		C	75214208	T	C	75214208	3	2	620	1	0	0	0	0	1	0	0	0	12403	1435	50	3	449	3	PPP3CB	10	75214208	Missense_Mutation	SNP	T	TCGA-DW-7836-01A-11D-2136-08	57322449	75214208	60320539	20	33772											
AHNAK	79026	hgsc.bcm.edu	37	11	62298802	62298802	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr11:62298802A>C	ENST00000378024.4	-	5	3361	c.3087T>G	c.(3085-3087)atT>atG	p.I1029M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1029					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGTGCAGAAATGTCCACAT	0.453																																																0													98	95	96					11																	62298802		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3087T>G	chr11.hg19:g.62298802A>C	ENSP00000367263:p.Ile1029Met		A1A586	Missense_Mutation	SNP	ENST00000378024.4	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	12.64	1.997934	0.35226	.	.	ENSG00000124942	ENST00000378024	T	0.01527	4.8	4.63	3.5	0.40072	.	0.822488	0.10918	N	0.619768	T	0.04497	0.0123	M	0.83953	2.67	0.28015	N	0.934744	P	0.48089	0.905	P	0.45971	0.499	T	0.30504	-0.9976	10	0.33940	T	0.23	-2.6022	5.0819	0.14661	0.7519:0.0:0.0886:0.1594	.	1029	Q09666	AHNK_HUMAN	M	1029	ENSP00000367263:I1029M	ENSP00000367263:I1029M	I	-	3	3	AHNAK	62055378	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	0.982000	0.29539	0.734000	0.32515	0.454000	0.30748	ATT		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		C	62298802	A	C	62298802	3	2	620	1	0	0	0	0	1	0	0	0	414	10	1	5	14705	5	AHNAK	11	62298802	Missense_Mutation	SNP	A	TCGA-DW-7836-01A-11D-2136-08		62298802	72707714	21	33773											
C12orf59	120939	hgsc.bcm.edu	37	12	10342575	10342575	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr12:10342575T>C	ENST00000381923.2	+	6	792	c.388T>C	c.(388-390)Tcc>Ccc	p.S130P	TMEM52B_ENST00000298530.3_Missense_Mutation_p.S110P|TMEM52B_ENST00000536952.1_Missense_Mutation_p.S130P			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	130						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCAGCTGCCCTCCTCTTTGGA	0.582																																																0													66	61	63					12																	10342575		2203	4300	6503	SO:0001583	missense	120939			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.388T>C	chr12.hg19:g.10342575T>C	ENSP00000371348:p.Ser130Pro		Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	hg19		.	.	.	.	.	.	.	.	.	.	T	2.193	-0.384873	0.04966	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	T;T;T	0.32272	1.46;1.46;1.46	4.39	-1.11	0.09840	.	0.546525	0.17750	N	0.163267	T	0.17831	0.0428	L	0.43152	1.355	0.09310	N	0.999998	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.14615	-1.0466	10	0.33141	T	0.24	-7.7347	0.9089	0.01290	0.1631:0.3042:0.1683:0.3644	.	130;110	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	P	130;110;130	ENSP00000371348:S130P;ENSP00000298530:S110P;ENSP00000446102:S130P	ENSP00000298530:S110P	S	+	1	0	C12orf59	10233842	0.000000	0.05858	0.260000	0.24451	0.195000	0.23768	-0.335000	0.07873	-0.279000	0.09167	-0.399000	0.06403	TCC		0.582	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		C	10342575	T	C	10342575	3	2	620	1	0	0	0	0	1	0	0	0	1704	1551	54	3	342	3	C12orf59	12	10342575	Missense_Mutation	SNP	T	TCGA-DW-7836-01A-11D-2136-08		10342575	123509320	22	33774											
KRT3	3850	hgsc.bcm.edu	37	12	53188038	53188038	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr12:53188038G>C	ENST00000417996.2	-	2	797	c.723C>G	c.(721-723)atC>atG	p.I241M	KRT3_ENST00000309505.3_Missense_Mutation_p.I241M	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	241	Linker 1.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TTGTGCCTGAGATGGAACTTG	0.547																																																0													140	159	152					12																	53188038		2190	4299	6489	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.723C>G	chr12.hg19:g.53188038G>C	ENSP00000413479:p.Ile241Met		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	hg19	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747661	0.30955	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.77358	-1.09;-1.09	4.84	3.03	0.35002	Filament (1);	0.796636	0.10927	N	0.618820	T	0.65015	0.2651	N	0.14661	0.345	0.09310	N	0.999997	D	0.54207	0.965	P	0.44518	0.452	T	0.55010	-0.8207	10	0.59425	D	0.04	.	9.7916	0.40708	0.171:0.0:0.829:0.0	.	241	P12035	K2C3_HUMAN	M	241	ENSP00000413479:I241M;ENSP00000312206:I241M	ENSP00000312206:I241M	I	-	3	3	KRT3	51474305	0.543000	0.26434	0.057000	0.19452	0.311000	0.27955	1.403000	0.34612	0.770000	0.33336	-0.137000	0.14449	ATC		0.547	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		C	53188038	G	C	53188038	3	2	620	1	0	0	0	0	1	0	0	0	8468	932	33	4	1195	4	KRT3	12	53188038	Missense_Mutation	SNP	G	TCGA-DW-7836-01A-11D-2136-08	42845463	53188038	80663857	23	33775											
EFS	10278	hgsc.bcm.edu	37	14	23830017	23830017	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr14:23830017T>A	ENST00000216733.3	-	2	651	c.44A>T	c.(43-45)gAc>gTc	p.D15V	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	15	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGCGGTGTTGTCATACAGTGC	0.647																																																0													23	24	24					14																	23830017		2203	4299	6502	SO:0001583	missense	10278			AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.44A>T	chr14.hg19:g.23830017T>A	ENSP00000216733:p.Asp15Val		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	hg19	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776984	0.90195	.	.	ENSG00000100842	ENST00000216733	T	0.57907	0.37	4.99	4.99	0.66335	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.82176	0.4980	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88428	0.3033	10	0.87932	D	0	-29.2596	12.9697	0.58505	0.0:0.0:0.0:1.0	.	15	O43281	EFS_HUMAN	V	15	ENSP00000216733:D15V	ENSP00000216733:D15V	D	-	2	0	EFS	22899857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.888000	0.75622	2.234000	0.73211	0.460000	0.39030	GAC		0.647	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			A	23830017	T	A	23830017	3	1	620	1	0	0	0	0	1	0	0	0	4961	1667	58	5	1661	5	EFS	14	23830017	Missense_Mutation	SNP	T	TCGA-DW-7836-01A-11D-2136-08		23830017	83519523	24	33776											
SYNE2	23224	hgsc.bcm.edu	37	14	64587724	64587724	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr14:64587724C>T	ENST00000344113.4	+	68	13315	c.13103C>T	c.(13102-13104)tCc>tTc	p.S4368F	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4368F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4383F|SYNE2_ENST00000553455.1_Missense_Mutation_p.S87F|SYNE2_ENST00000357395.3_Missense_Mutation_p.S753F|SYNE2_ENST00000394768.2_Missense_Mutation_p.S753F|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1002F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4368					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATTGGAATCCATTGTAACT	0.403																																																0													97	89	92					14																	64587724		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13103C>T	chr14.hg19:g.64587724C>T	ENSP00000341781:p.Ser4368Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	7.349	0.622515	0.14193	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553455	T;T;T;T;T;T	0.58652	0.73;4.03;0.73;0.32;4.08;4.03	5.4	3.57	0.40892	.	0.605748	0.15778	N	0.245095	T	0.49626	0.1568	L	0.57536	1.79	0.09310	N	0.999999	B;B;B	0.14438	0.003;0.006;0.01	B;B;B	0.17722	0.019;0.007;0.015	T	0.48636	-0.9018	10	0.56958	D	0.05	.	4.7178	0.12903	0.0:0.6119:0.1734:0.2147	.	753;4368;4368	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	F	4368;753;4368;4383;4383;1002;753;87	ENSP00000350719:S4368F;ENSP00000349969:S753F;ENSP00000341781:S4368F;ENSP00000452570:S4383F;ENSP00000450831:S1002F;ENSP00000378249:S753F	ENSP00000261678:S4383F	S	+	2	0	SYNE2	63657477	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	0.304000	0.19228	0.829000	0.34733	0.655000	0.94253	TCC		0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		T	64587724	C	T	64587724	3	4	620	1	0	0	0	0	1	0	0	0	15451	855	30	2	13369	2	SYNE2	14	64587724	Missense_Mutation	SNP	C	TCGA-DW-7836-01A-11D-2136-08	40757707	64587724	42761816	25	33777											
SMG1	23049	hgsc.bcm.edu	37	16	18937327	18937327	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr16:18937327C>T	ENST00000446231.2	-	1	449	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.G13S|CTD-2288F12.1_ENST00000565782.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	13	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgccgctgcTCAGC	0.736																																																0													2	3	3					16																	18937327		1046	2801	3847	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.37G>A	chr16.hg19:g.18937327C>T	ENSP00000402515:p.Gly13Ser		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	hg19	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	c	16.19	3.051895	0.55218	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01240	5.12;5.12	4.27	3.31	0.37934	.	0.832224	0.10596	N	0.656220	T	0.00998	0.0033	N	0.14661	0.345	0.31512	N	0.663496	B	0.22346	0.068	B	0.08055	0.003	T	0.29912	-0.9996	10	0.12766	T	0.61	.	6.0417	0.19738	0.0:0.7231:0.0:0.2769	.	13	Q96Q15	SMG1_HUMAN	S	13	ENSP00000402515:G13S;ENSP00000374118:G13S	ENSP00000374118:G13S	G	-	1	0	SMG1	18844828	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.149000	0.42244	0.999000	0.39023	0.455000	0.32223	GGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		T	18937327	C	T	18937327	3	4	620	1	0	0	0	0	1	0	0	0	14801	652	23	1	11200	1	SMG1	16	18937327	Missense_Mutation	SNP	C	TCGA-DW-7836-01A-11D-2136-08		18937327	71417426	26	33778											
POLR3E	55718	hgsc.bcm.edu	37	16	22324995	22324995	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr16:22324995C>A	ENST00000299853.5	+	7	586	c.419C>A	c.(418-420)tCc>tAc	p.S140Y	POLR3E_ENST00000418581.2_Missense_Mutation_p.S104Y|POLR3E_ENST00000359210.4_Missense_Mutation_p.S140Y|POLR3E_ENST00000564209.1_Missense_Mutation_p.S140Y	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	140					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCCAGCTTCTCCTACCTGGAT	0.632																																																0													49	50	50					16																	22324995		2197	4300	6497	SO:0001583	missense	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.419C>A	chr16.hg19:g.22324995C>A	ENSP00000299853:p.Ser140Tyr		B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	hg19	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371103	0.95923	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.48201	0.82;0.82;0.82	5.47	5.47	0.80525	.	0.117597	0.64402	D	0.000020	T	0.62865	0.2463	L	0.52011	1.625	0.52501	D	0.99995	D;D;D;D;D;D	0.65815	0.993;0.993;0.993;0.995;0.993;0.991	D;P;D;P;P;P	0.63381	0.914;0.879;0.914;0.807;0.879;0.861	T	0.64939	-0.6289	10	0.87932	D	0	-20.1214	18.0983	0.89498	0.0:1.0:0.0:0.0	.	84;104;140;140;140;140	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	Y	140;140;104	ENSP00000299853:S140Y;ENSP00000352140:S140Y;ENSP00000399254:S104Y	ENSP00000299853:S140Y	S	+	2	0	POLR3E	22232496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.513000	0.67037	2.563000	0.86464	0.561000	0.74099	TCC		0.632	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		A	22324995	C	A	22324995	3	1	620	1	0	0	0	0	1	0	0	0	12234	855	30	4	441	4	POLR3E	16	22324995	Missense_Mutation	SNP	C	TCGA-DW-7836-01A-11D-2136-08	3387668	22324995	68029758	27	33779											
SNTB2	6645	hgsc.bcm.edu	37	16	69294139	69294139	+	Silent	SNP	G	G	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr16:69294139G>A	ENST00000336278.4	+	3	1019	c.981G>A	c.(979-981)aaG>aaA	p.K327K	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	327	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		AAGAGGTGAAGCATATTGCCT	0.522																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)											0													114	90	98					16																	69294139		2198	4300	6498	SO:0001819	synonymous_variant	6645			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.981G>A	chr16.hg19:g.69294139G>A			Q9BY09	Silent	SNP	ENST00000336278.4	hg19	CCDS10873.1																																																																																				0.522	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1			A	69294139	G	A	69294139	2	1	620	1	0	0	0	0	0	0	0	1	14879	962	34	2		2	SNTB2	16	69294139	Silent	SNP	G	TCGA-DW-7836-01A-11D-2136-08	46969144	69294139	21060614	28	33780											
SLC7A5	8140	hgsc.bcm.edu	37	16	87868146	87868146	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr16:87868146C>T	ENST00000261622.4	-	9	1407	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Missense_Mutation_p.A182T	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	448					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	AAGGAGACGGCGATCAGGAAG	0.617																																																0																																										SO:0001583	missense	8140			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1342G>A	chr16.hg19:g.87868146C>T	ENSP00000261622:p.Ala448Thr		Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	hg19	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018259	0.75275	.	.	ENSG00000103257	ENST00000261622	D	0.90620	-2.7	5.45	5.45	0.79879	.	0.120057	0.64402	D	0.000017	D	0.86916	0.6048	N	0.20986	0.625	0.44976	D	0.997999	D	0.54601	0.967	P	0.45167	0.472	D	0.88309	0.2955	10	0.52906	T	0.07	.	18.3254	0.90252	0.0:1.0:0.0:0.0	.	448	Q01650	LAT1_HUMAN	T	448	ENSP00000261622:A448T	ENSP00000261622:A448T	A	-	1	0	SLC7A5	86425647	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	2.919000	0.48836	2.578000	0.87016	0.456000	0.33151	GCC		0.617	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		T	87868146	C	T	87868146	3	4	620	1	0	0	0	0	1	0	0	0	14706	768	27	1	189	1	SLC7A5	16	87868146	Missense_Mutation	SNP	C	TCGA-DW-7836-01A-11D-2136-08	18574007	87868146	2486607	29	33781											
MYO1C	4641	hgsc.bcm.edu	37	17	1386297	1386297	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr17:1386297G>C	ENST00000575158.1	-	4	475	c.299C>G	c.(298-300)gCt>gGt	p.A100G	MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000545534.2_Missense_Mutation_p.A111G|MYO1C_ENST00000361007.2_Missense_Mutation_p.A100G|MYO1C_ENST00000359786.5_Missense_Mutation_p.A135G|MYO1C_ENST00000438665.2_Missense_Mutation_p.A116G			Q12965	MYO1E_HUMAN	myosin IC	107	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GATCATCACAGCCTGGTCCCG	0.677																																																0													29	28	29					17																	1386297		2203	4300	6503	SO:0001583	missense	4641			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.299C>G	chr17.hg19:g.1386297G>C	ENSP00000459174:p.Ala100Gly		Q14778	Missense_Mutation	SNP	ENST00000575158.1	hg19	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636053	0.67130	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.45	5.45	0.79879	Myosin head, motor domain (3);	0.140578	0.64402	D	0.000005	D	0.86944	0.6055	L	0.58354	1.805	0.39738	D	0.97171	P;B;P	0.36647	0.563;0.43;0.508	B;B;B	0.41894	0.369;0.266;0.253	D	0.88555	0.3119	10	0.87932	D	0	.	13.3051	0.60347	0.0:0.2668:0.7332:0.0	.	111;135;116	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	G	135;116;116;100;111;100	ENSP00000352834:A135G;ENSP00000412197:A116G;ENSP00000354283:A100G;ENSP00000437685:A111G	ENSP00000352834:A135G	A	-	2	0	MYO1C	1333047	1.000000	0.71417	0.959000	0.39883	0.696000	0.40369	4.738000	0.62073	2.548000	0.85928	0.462000	0.41574	GCT		0.677	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			C	1386297	G	C	1386297	3	2	620	1	0	0	0	0	1	0	0	0	10072	971	34	4	2903	4	MYO1C	17	1386297	Missense_Mutation	SNP	G	TCGA-DW-7836-01A-11D-2136-08		1386297	79808913	30	33782											
NLRP1	22861	hgsc.bcm.edu	37	17	5461735	5461735	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr17:5461735T>A	ENST00000572272.1	-	4	2280	c.2281A>T	c.(2281-2283)Agc>Tgc	p.S761C	NLRP1_ENST00000269280.4_Missense_Mutation_p.S761C|NLRP1_ENST00000354411.3_Missense_Mutation_p.S761C|NLRP1_ENST00000577119.1_Missense_Mutation_p.S761C|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Missense_Mutation_p.S761C|NLRP1_ENST00000262467.5_Missense_Mutation_p.S761C			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	761					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ACGTGGCGGCTGAATTTAATG	0.498																																																0													96	96	96					17																	5461735		2203	4300	6503	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2281A>T	chr17.hg19:g.5461735T>A	ENSP00000460475:p.Ser761Cys		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	hg19	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	T	1.036	-0.680260	0.03353	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.02	1.81	0.25067	.	0.336093	0.21989	N	0.066194	T	0.07503	0.0189	N	0.00055	-2.375	0.09310	N	0.999994	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0;0.0	T	0.39014	-0.9634	10	0.02654	T	1	.	3.4335	0.07437	0.6926:0.0:0.1074:0.2	.	27;761;761;761;761;761	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	C	761;761;761;761;761;27	ENSP00000442029:S761C;ENSP00000262467:S761C;ENSP00000269280:S761C;ENSP00000346390:S761C;ENSP00000324366:S761C	ENSP00000262467:S761C	S	-	1	0	NLRP1	5402459	0.002000	0.14202	0.392000	0.26245	0.340000	0.28889	0.623000	0.24447	0.372000	0.24591	-1.045000	0.02358	AGC		0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		A	5461735	T	A	5461735	3	1	620	1	0	0	0	0	1	0	0	0	10473	1580	55	5	2271	5	NLRP1	17	5461735	Missense_Mutation	SNP	T	TCGA-DW-7836-01A-11D-2136-08	4075438	5461735	75733475	31	33783											
FOXN1	8456	hgsc.bcm.edu	37	17	26864406	26864406	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr17:26864406delC	ENST00000226247.2	+	8	1928	c.1899delC	c.(1897-1899)ggcfs	p.G633fs	FOXN1_ENST00000579795.1_Frame_Shift_Del_p.G633fs	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	633					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCCCTGCAGGCCCCTCTGTGT	0.677																																																0													23	27	26					17																	26864406		2203	4298	6501	SO:0001589	frameshift_variant	8456			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1899delC	chr17.hg19:g.26864406delC	ENSP00000226247:p.Gly633fs		B2R9Q7|O15352	Frame_Shift_Del	DEL	ENST00000226247.2	hg19	CCDS11232.1																																																																																				0.677	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			-	26864406	C	-	26864406	7	5	620	1	0	1	0	1	0	0	0	0	6021	726	26	0	1929	0	FOXN1	17	26864406	Frame_Shift_Del	DEL	C	TCGA-DW-7836-01A-11D-2136-08	21402671	26864406	54330804	32	33784											
SUPT6H	6830	hgsc.bcm.edu	37	17	27005892	27005892	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr17:27005892G>A	ENST00000314616.6	+	11	1543	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M420I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	420	Interaction with IWS1. {ECO:0000250}.|Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTGAGAAGATGCAGGCTTATC	0.517																																																0													135	128	131					17																	27005892		2203	4300	6503	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1260G>A	chr17.hg19:g.27005892G>A	ENSP00000319104:p.Met420Ile		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	hg19	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643321	0.87859	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	T;T	0.41400	1.0;1.0	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	M	0.62088	1.915	0.80722	D	1	P	0.41929	0.765	P	0.44359	0.447	T	0.35649	-0.9780	10	0.32370	T	0.25	-21.3743	20.428	0.99075	0.0:0.0:1.0:0.0	.	420	Q7KZ85	SPT6H_HUMAN	I	420	ENSP00000319104:M420I;ENSP00000338143:M420I	ENSP00000319104:M420I	M	+	3	0	SUPT6H	24030019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.283000	0.95860	2.837000	0.97791	0.655000	0.94253	ATG		0.517	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		A	27005892	G	A	27005892	3	1	620	1	0	0	0	0	1	0	0	0	15405	1319	46	2	1298	2	SUPT6H	17	27005892	Missense_Mutation	SNP	G	TCGA-DW-7836-01A-11D-2136-08	141486	27005892	54189318	33	33785											
LRRC59	55379	hgsc.bcm.edu	37	17	48462617	48462617	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr17:48462617T>A	ENST00000225972.7	-	6	773	c.538A>T	c.(538-540)Aag>Tag	p.K180*	Y_RNA_ENST00000384097.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K180E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGAGCTTCCTTAGCTCGCTGC	0.527																																																1	Substitution - Missense(1)	lung(1)											110	110	110					17																	48462617		2203	4300	6503	SO:0001587	stop_gained	55379			AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.538A>T	chr17.hg19:g.48462617T>A	ENSP00000225972:p.Lys180*		B2RE83|D3DTX8|Q9P189	Nonsense_Mutation	SNP	ENST00000225972.7	hg19	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	T	39	7.478468	0.98309	.	.	ENSG00000108829	ENST00000225972	.	.	.	5.87	4.73	0.59995	.	0.206543	0.47093	D	0.000244	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0564	0.58982	0.0:0.0:0.1338:0.8661	.	.	.	.	X	180	.	ENSP00000225972:K180X	K	-	1	0	LRRC59	45817616	0.994000	0.37717	0.985000	0.45067	0.993000	0.82548	2.417000	0.44653	2.371000	0.80710	0.533000	0.62120	AAG		0.527	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509		A	48462617	T	A	48462617	4	1	620	1	0	0	0	0	0	1	0	0	9017	1763	61	5	393	5	LRRC59	17	48462617	Nonsense_Mutation	SNP	T	TCGA-DW-7836-01A-11D-2136-08	21456725	48462617	32732593	34	33786											
METTL4	64863	hgsc.bcm.edu	37	18	2552727	2552727	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr18:2552727G>A	ENST00000574538.1	-	5	1641	c.866C>T	c.(865-867)cCa>cTa	p.P289L	METTL4_ENST00000319888.6_Missense_Mutation_p.P289L|snoU109_ENST00000459316.1_RNA	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	289					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GTTCTGCCATGGTGGATCTAT	0.284																																																0													100	95	97					18																	2552727		2201	4297	6498	SO:0001583	missense	64863				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.866C>T	chr18.hg19:g.2552727G>A	ENSP00000458290:p.Pro289Leu		B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	hg19	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542180	0.65198	.	.	ENSG00000101574	ENST00000319888	D	0.88741	-2.42	5.44	5.44	0.79542	DNA methylase, N-6 adenine-specific, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96491	0.8855	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97268	0.9909	10	0.87932	D	0	-10.0395	19.6271	0.95682	0.0:0.0:1.0:0.0	.	289;289	A8K1T6;Q8N3J2	.;METL4_HUMAN	L	289	ENSP00000320349:P289L	ENSP00000320349:P289L	P	-	2	0	METTL4	2542727	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.974000	0.88039	2.712000	0.92718	0.650000	0.86243	CCA		0.284	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		A	2552727	G	A	2552727	3	1	620	1	0	0	0	0	1	0	0	0	9504	1348	47	2	572	2	METTL4	18	2552727	Missense_Mutation	SNP	G	TCGA-DW-7836-01A-11D-2136-08		2552727	75524521	35	33787											
DUS3L	56931	hgsc.bcm.edu	37	19	5789679	5789679	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr19:5789679C>A	ENST00000309061.7	-	3	535	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	147							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TAGCGCCCCACGTCGTGCAGA	0.677																																																0													12	18	16					19																	5789679		2120	4219	6339	SO:0001583	missense	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.439G>T	chr19.hg19:g.5789679C>A	ENSP00000311977:p.Val147Leu		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	hg19	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	0.236	-1.017044	0.02078	.	.	ENSG00000141994	ENST00000309061	T	0.15603	2.41	4.51	-0.951	0.10369	Zinc finger, CCCH-type (1);	0.454534	0.20607	N	0.089046	T	0.08088	0.0202	N	0.19112	0.55	0.20074	N	0.999939	B	0.09022	0.002	B	0.11329	0.006	T	0.40979	-0.9534	10	0.10636	T	0.68	2.778	8.3861	0.32501	0.0:0.4616:0.4471:0.0913	.	147	Q96G46	DUS3L_HUMAN	L	147	ENSP00000311977:V147L	ENSP00000311977:V147L	V	-	1	0	DUS3L	5740679	0.042000	0.20092	0.001000	0.08648	0.013000	0.08279	0.424000	0.21330	0.063000	0.16370	0.561000	0.74099	GTG		0.677	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		A	5789679	C	A	5789679	3	1	620	1	0	0	0	0	1	0	0	0	4809	536	19	4	1557	4	DUS3L	19	5789679	Missense_Mutation	SNP	C	TCGA-DW-7836-01A-11D-2136-08		5789679	53339304	36	33788											
ZNF559	84527	hgsc.bcm.edu	37	19	9452847	9452848	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr19:9452847_9452848CT>AA	ENST00000393883.2	+	6	1368_1369	c.720_721CT>AA	c.(718-723)ttCTat>ttAAat	p.240_241FY>LN	CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000587557.1_Missense_Mutation_p.304_305FY>LN|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.240_241FY>LN|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.160_161FY>LN|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GAGAAAAATTCTATGAATGTAA	0.361																																																0																																										SO:0001583	missense	84527			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	Exception_encountered	chr19.hg19:g.9452847_9452848delinsAA	ENSP00000377461:p.F240_Y241delinsLN		K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	hg19	CCDS12211.1																																																																																				0.361	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		AA	9452848	CT	AA	9452847	3	1	620	1	0	0	0	0	1	0	0	0	17995	912	32	4	734	4	ZNF559	19	9452847	Missense_Mutation	DNP	CT	TCGA-DW-7836-01A-11D-2136-08	3663168	9452847	49676136	37	33789											
ACTN4	81	hgsc.bcm.edu	37	19	39219691	39219691	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr19:39219691T>C	ENST00000252699.2	+	20	2550	c.2474T>C	c.(2473-2475)cTt>cCt	p.L825P	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Missense_Mutation_p.L435P|ACTN4_ENST00000390009.3_Missense_Mutation_p.L606P	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	825	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATAGCGGCCTTGTGACCTTC	0.607																																					Colon(168;199 1940 10254 46213 46384)											0													132	102	112					19																	39219691		2203	4300	6503	SO:0001583	missense	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2474T>C	chr19.hg19:g.39219691T>C	ENSP00000252699:p.Leu825Pro		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	hg19	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.491189	0.44249	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.78924	-0.07;-0.07;-0.07;-1.22	3.62	3.62	0.41486	EF-hand-like domain (1);	0.328967	0.28327	N	0.015757	T	0.64416	0.2596	N	0.22421	0.69	0.58432	D	0.999999	B	0.23316	0.083	B	0.23716	0.048	T	0.62483	-0.6845	10	0.40728	T	0.16	.	11.6505	0.51286	0.0:0.0:0.0:1.0	.	825	O43707	ACTN4_HUMAN	P	825;435;606;256	ENSP00000252699:L825P;ENSP00000411187:L435P;ENSP00000439497:L606P;ENSP00000398393:L256P	ENSP00000252699:L825P	L	+	2	0	ACTN4	43911531	0.930000	0.31532	0.999000	0.59377	0.976000	0.68499	3.892000	0.56235	1.656000	0.50722	0.459000	0.35465	CTT		0.607	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			C	39219691	T	C	39219691	3	2	620	1	0	0	0	0	1	0	0	0	207	1609	56	3	2552	3	ACTN4	19	39219691	Missense_Mutation	SNP	T	TCGA-DW-7836-01A-11D-2136-08	29766844	39219691	19909292	38	33790											
GAB4	128954	hgsc.bcm.edu	37	22	17444670	17444670	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr22:17444670G>C	ENST00000400588.1	-	9	1633	c.1526C>G	c.(1525-1527)cCg>cGg	p.P509R		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	509										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTCCTCGGCGGGGCTGAACT	0.612																																																0													47	54	52					22																	17444670		1991	4192	6183	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1526C>G	chr22.hg19:g.17444670G>C	ENSP00000383431:p.Pro509Arg			Missense_Mutation	SNP	ENST00000400588.1	hg19	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	0.264	-0.997244	0.02145	.	.	ENSG00000215568	ENST00000400588	T	0.21543	2.0	2.3	-0.182	0.13287	.	0.250153	0.41097	D	0.000958	T	0.09862	0.0242	L	0.38175	1.15	0.09310	N	0.999994	P	0.39157	0.662	B	0.34138	0.176	T	0.34551	-0.9824	10	0.08179	T	0.78	.	4.6103	0.12399	0.13:0.0:0.5111:0.3589	.	509	Q2WGN9	GAB4_HUMAN	R	509	ENSP00000383431:P509R	ENSP00000383431:P509R	P	-	2	0	GAB4	15824670	1.000000	0.71417	0.085000	0.20634	0.002000	0.02628	4.484000	0.60271	-0.257000	0.09459	-1.465000	0.01017	CCG		0.612	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		C	17444670	G	C	17444670	3	2	620	1	0	0	0	0	1	0	0	0	6153	1116	39	4	206	4	GAB4	22	17444670	Missense_Mutation	SNP	G	TCGA-DW-7836-01A-11D-2136-08		17444670	33859896	39	33791											
SEC14L2	23541	hgsc.bcm.edu	37	22	30805245	30805245	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chr22:30805245A>C	ENST00000312932.9	+	6	753	c.493A>C	c.(493-495)Aag>Cag	p.K165Q	SEC14L2_ENST00000405717.3_Missense_Mutation_p.K165Q|SEC14L2_ENST00000403484.1_Missense_Mutation_p.K91Q|SEC14L2_ENST00000402592.3_Missense_Mutation_p.K82Q|RP4-539M6.19_ENST00000439838.1_5'Flank|SEC14L2_ENST00000459728.1_3'UTR	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	165	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GCATCTCTGGAAGCCTGCTGT	0.592																																																0													58	63	61					22																	30805245		2203	4300	6503	SO:0001583	missense	23541			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.493A>C	chr22.hg19:g.30805245A>C	ENSP00000316203:p.Lys165Gln		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	ENST00000312932.9	hg19	CCDS13876.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716174	0.89205	.	.	ENSG00000100003	ENST00000312932;ENST00000428195;ENST00000403484;ENST00000405717;ENST00000402592	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	4.79	4.79	0.61399	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	M	0.72353	2.195	0.80722	D	1	D;P;D;P	0.89917	1.0;0.933;0.996;0.88	D;P;D;B	0.74674	0.984;0.711;0.949;0.383	D	0.88014	0.2764	10	0.72032	D	0.01	-0.6938	14.1425	0.65329	1.0:0.0:0.0:0.0	.	82;91;165;165	F5H3U4;B3KRD8;O76054;O76054-4	.;.;S14L2_HUMAN;.	Q	165;111;91;165;82	ENSP00000316203:K165Q;ENSP00000387781:K111Q;ENSP00000383993:K91Q;ENSP00000385186:K165Q;ENSP00000383882:K82Q	ENSP00000316203:K165Q	K	+	1	0	SEC14L2	29135245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.622000	0.90953	2.018000	0.59344	0.533000	0.62120	AAG		0.592	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		C	30805245	A	C	30805245	3	2	620	1	0	0	0	0	1	0	0	0	13988	247	9	5	515	5	SEC14L2	22	30805245	Missense_Mutation	SNP	A	TCGA-DW-7836-01A-11D-2136-08	13360575	30805245	20499321	40	33792											
ARSE	415	hgsc.bcm.edu	37	X	2867409	2867409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DW-7836-01A-11D-2136-08	TCGA-DW-7836-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1cca814c-40fe-426c-b494-86a634031f4c	22c58020-f91d-4657-99ae-53bd869ee210	g.chrX:2867409G>A	ENST00000381134.3	-	6	856	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	ARSE_ENST00000545496.1_Nonsense_Mutation_p.Q289*|ARSE_ENST00000540563.1_Nonsense_Mutation_p.Q219*	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	264					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACATGGGCTGCTCCGTGATG	0.527																																																0													92	73	79					X																	2867409		2203	4300	6503	SO:0001587	stop_gained	415			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.790C>T	chrX.hg19:g.2867409G>A	ENSP00000370526:p.Gln264*		Q53FT2|Q53FU8	Nonsense_Mutation	SNP	ENST00000381134.3	hg19	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.216506	0.79352	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	.	.	.	3.54	3.54	0.40534	.	0.139687	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.5415	0.67999	0.0:0.0:1.0:0.0	.	.	.	.	X	219;289;264	.	ENSP00000370526:Q264X	Q	-	1	0	ARSE	2877409	1.000000	0.71417	0.267000	0.24556	0.056000	0.15407	5.631000	0.67812	1.395000	0.46643	0.591000	0.81541	CAG		0.527	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		A	2867409	G	A	2867409	4	1	620	1	0	0	0	0	0	1	0	0	990	1328	46	2	1003	2	ARSE	23	2867409	Nonsense_Mutation	SNP	G	TCGA-DW-7836-01A-11D-2136-08		2867409	152403151	41	33793											
DNAJC16	23341	hgsc.bcm.edu	37	1	15890499	15890500	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr1:15890499_15890500delGA	ENST00000375847.3	+	10	1578_1579	c.1414_1415delGA	c.(1414-1416)gagfs	p.E472fs	DNAJC16_ENST00000375849.1_Frame_Shift_Del_p.E472fs|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375838.1_Frame_Shift_Del_p.E472fs	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	472					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATTGGGAGTGAGAGTGACAAA	0.465																																																0																																										SO:0001589	frameshift_variant	23341			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1414_1415delGA	chr1.hg19:g.15890501_15890502delGA	ENSP00000365007:p.Glu472fs		Q68D57|Q86X32|Q8N5P4	Frame_Shift_Del	DEL	ENST00000375847.3	hg19	CCDS30606.1																																																																																				0.465	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		-	15890500	GA	-	15890499	7	5	621	1	0	1	0	1	0	0	0	0	4637	1291	45	0	1448	0	DNAJC16	1	15890499	Frame_Shift_Del	DEL	GA	TCGA-DW-7837-01A-11D-2136-08		15890499	233360122	1	33794											
ST6GALNAC5	81849	hgsc.bcm.edu	37	1	77528824	77528824	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr1:77528824T>G	ENST00000477717.1	+	5	1179	c.944T>G	c.(943-945)tTt>tGt	p.F315C		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	315					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AATATTCACTTTTTTCAACCA	0.438																																																0													116	110	112					1																	77528824		2203	4300	6503	SO:0001583	missense	81849				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.944T>G	chr1.hg19:g.77528824T>G	ENSP00000417583:p.Phe315Cys		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	hg19	CCDS673.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359557	0.82353	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.58358	0.34	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79562	-0.1752	10	0.87932	D	0	-36.7448	16.3789	0.83431	0.0:0.0:0.0:1.0	.	315	Q9BVH7	SIA7E_HUMAN	C	315;225	ENSP00000417583:F315C	ENSP00000406658:F225C	F	+	2	0	ST6GALNAC5	77301412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.267000	0.75376	0.533000	0.62120	TTT		0.438	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		G	77528824	T	G	77528824	3	3	621	1	0	0	0	0	1	0	0	0	15232	1841	64	5	962	5	ST6GALNAC5	1	77528824	Missense_Mutation	SNP	T	TCGA-DW-7837-01A-11D-2136-08	61638325	77528824	171721797	2	33795			1	54		2	2	12	N	T_G	1.385795e-05
ST6GALNAC5	81849	hgsc.bcm.edu	37	1	77528835	77528835	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr1:77528835G>A	ENST00000477717.1	+	5	1190	c.955G>A	c.(955-957)Gac>Aac	p.D319N		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	319					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TTTTCAACCAGACTGGAAACC	0.438																																																0													113	106	109					1																	77528835		2203	4300	6503	SO:0001583	missense	81849				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.955G>A	chr1.hg19:g.77528835G>A	ENSP00000417583:p.Asp319Asn		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	hg19	CCDS673.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733083	0.48939	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.30714	1.52	5.93	2.92	0.33932	.	0.140018	0.64402	N	0.000006	T	0.12475	0.0303	L	0.49350	1.555	0.50467	D	0.999873	B	0.18166	0.026	B	0.16289	0.015	T	0.05022	-1.0911	10	0.23302	T	0.38	-15.1218	11.5508	0.50719	0.0636:0.2339:0.7025:0.0	.	319	Q9BVH7	SIA7E_HUMAN	N	319;229	ENSP00000417583:D319N	ENSP00000406658:D229N	D	+	1	0	ST6GALNAC5	77301423	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.553000	0.60753	0.830000	0.34757	0.655000	0.94253	GAC		0.438	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		A	77528835	G	A	77528835	3	1	621	1	0	0	0	0	1	0	0	0	15232	942	33	2	973	2	ST6GALNAC5	1	77528835	Missense_Mutation	SNP	G	TCGA-DW-7837-01A-11D-2136-08	11	77528835	171721786	3	33796			1	54		2	2	12	N	T_G	1.385795e-05
EGLN1	54583	hgsc.bcm.edu	37	1	231556782	231556782	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr1:231556782C>A	ENST00000366641.3	-	1	4008	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				CCCAGCTTCCCGTTACAGTGG	0.607																																																0													118	114	115					1																	231556782		2203	4300	6503	SO:0001583	missense	54583			AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"Zinc fingers, MYND-type"	1232	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 2"	606425	"EGL nine (C.elegans) homolog 1", "egl nine homolog 1 (C. elegans)"	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.853G>T	chr1.hg19:g.231556782C>A	ENSP00000355601:p.Gly285Trp			Missense_Mutation	SNP	ENST00000366641.3	hg19	CCDS1595.1	.	.	.	.	.	.	.	.	.	.	C	35	5.558127	0.96514	.	.	ENSG00000135766	ENST00000366641	D	0.87103	-2.21	4.76	4.76	0.60689	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93690	0.7984	M	0.85041	2.73	0.80722	D	1	D	0.71674	0.998	D	0.64410	0.925	D	0.94830	0.7995	10	0.87932	D	0	-8.1275	18.1409	0.89639	0.0:1.0:0.0:0.0	.	285	Q9GZT9	EGLN1_HUMAN	W	285	ENSP00000355601:G285W	ENSP00000355601:G285W	G	-	1	0	EGLN1	229623405	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.924000	0.70054	2.304000	0.77564	0.563000	0.77884	GGG		0.607	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	NM_022051		A	231556782	C	A	231556782	3	1	621	1	0	0	0	0	1	0	0	0	4970	652	23	4	447	4	EGLN1	1	231556782	Missense_Mutation	SNP	C	TCGA-DW-7837-01A-11D-2136-08	154027947	231556782	17693839	4	33797											
IFT172	26160	hgsc.bcm.edu	37	2	27685657	27685657	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr2:27685657C>A	ENST00000260570.3	-	20	2129	c.2026G>T	c.(2026-2028)Gga>Tga	p.G676*		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	676					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTTCCTTCTCCGCCCTGTGGG	0.448																																																0													94	99	97					2																	27685657		2203	4300	6503	SO:0001587	stop_gained	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2026G>T	chr2.hg19:g.27685657C>A	ENSP00000260570:p.Gly676*		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Nonsense_Mutation	SNP	ENST00000260570.3	hg19	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	40	8.188732	0.98696	.	.	ENSG00000138002	ENST00000260570	.	.	.	5.54	5.54	0.83059	.	0.099543	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-12.2619	18.0587	0.89370	0.0:1.0:0.0:0.0	.	.	.	.	X	676	.	ENSP00000260570:G676X	G	-	1	0	IFT172	27539161	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.355000	0.79434	2.601000	0.87937	0.655000	0.94253	GGA		0.448	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		A	27685657	C	A	27685657	4	1	621	1	0	0	0	0	0	1	0	0	7559	661	23	4	3339	4	IFT172	2	27685657	Nonsense_Mutation	SNP	C	TCGA-DW-7837-01A-11D-2136-08		27685657	215513716	5	33798											
CLASP1	23332	hgsc.bcm.edu	37	2	122206659	122206659	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr2:122206659C>T	ENST00000263710.4	-	17	1950	c.1561G>A	c.(1561-1563)Gca>Aca	p.A521T	CLASP1_ENST00000541859.1_Missense_Mutation_p.A290T|CLASP1_ENST00000409078.3_Missense_Mutation_p.A521T|CLASP1_ENST00000541377.1_Missense_Mutation_p.A521T|CLASP1_ENST00000455322.2_Missense_Mutation_p.A521T|CLASP1_ENST00000397587.3_Missense_Mutation_p.A521T|CLASP1_ENST00000545861.1_Missense_Mutation_p.A289T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	521					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AAGTGCTCTGCTTCTCTGCTG	0.493																																																0													100	99	99					2																	122206659		1961	4153	6114	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1561G>A	chr2.hg19:g.122206659C>T	ENSP00000263710:p.Ala521Thr		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.877189	0.97055	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (2);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	D	0.83889	0.5352	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.91635	0.997;0.995;0.998;0.999	D	0.85446	0.1158	10	0.87932	D	0	-19.0221	20.5948	0.99439	0.0:1.0:0.0:0.0	.	521;521;521;521	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	T	521;521;521;521;290;521;289	ENSP00000263710:A521T;ENSP00000389372:A521T;ENSP00000380717:A521T;ENSP00000441625:A521T;ENSP00000441770:A290T;ENSP00000386442:A521T;ENSP00000438620:A289T	ENSP00000263710:A521T	A	-	1	0	CLASP1	121923129	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GCA		0.493	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		T	122206659	C	T	122206659	3	4	621	1	0	0	0	0	1	0	0	0	3456	797	28	2	3203	2	CLASP1	2	122206659	Missense_Mutation	SNP	C	TCGA-DW-7837-01A-11D-2136-08	94521002	122206659	120992714	6	33799											
C3orf19	51244	hgsc.bcm.edu	37	3	14695999	14695999	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr3:14695999G>C	ENST00000383794.3	+	2	182	c.109G>C	c.(109-111)Gat>Cat	p.D37H	CCDC174_ENST00000303688.7_Missense_Mutation_p.D37H	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	37						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACTTCTAAAAGATTCTGGAGT	0.299																																																0													26	26	26					3																	14695999		1779	4049	5828	SO:0001583	missense	51244			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 19"	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.109G>C	chr3.hg19:g.14695999G>C	ENSP00000373304:p.Asp37His		Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	hg19	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862642	0.51482	.	.	ENSG00000154781	ENST00000383794;ENST00000303688	T;T	0.46063	0.88;0.89	5.58	4.7	0.59300	.	0.057430	0.64402	D	0.000001	T	0.61048	0.2316	M	0.70275	2.135	0.46981	D	0.999278	D	0.89917	1.0	D	0.71184	0.972	T	0.63005	-0.6733	10	0.59425	D	0.04	-12.7651	12.8107	0.57637	0.08:0.0:0.92:0.0	.	37	Q6PII3	CC019_HUMAN	H	37	ENSP00000373304:D37H;ENSP00000302344:D37H	ENSP00000302344:D37H	D	+	1	0	C3orf19	14671003	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.367000	0.73099	2.620000	0.88729	0.491000	0.48974	GAT		0.299	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		C	14695999	G	C	14695999	3	2	621	1	0	0	0	0	1	0	0	0	2214	942	33	4	115	4	C3orf19	3	14695999	Missense_Mutation	SNP	G	TCGA-DW-7837-01A-11D-2136-08		14695999	183326431	7	33800											
DPH3	285381	hgsc.bcm.edu	37	3	16302327	16302327	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr3:16302327C>G	ENST00000488423.1	-	3	288	c.193G>C	c.(193-195)Gtg>Ctg	p.V65L	DPH3_ENST00000285082.4_5'UTR|DPH3_ENST00000383775.4_Missense_Mutation_p.V40L	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	65					negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(2)	2						TCTCCACACACAAACTGATCC	0.388																																																0													98	87	91					3																	16302327		2203	4300	6503	SO:0001583	missense	285381			BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"DPH3A, KTI11 homolog A (S. cerevisiae)"	608959	"zinc finger, CSL-type containing 2", "DPH3 homolog (KTI11, S. cerevisiae)", "DPH3, KTI11 homolog (S. cerevisiae)"	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.193G>C	chr3.hg19:g.16302327C>G	ENSP00000419599:p.Val65Leu			Missense_Mutation	SNP	ENST00000488423.1	hg19	CCDS2629.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311440	0.23821	.	.	ENSG00000154813	ENST00000488423;ENST00000383775	.	.	.	5.73	3.22	0.36961	.	0.175580	0.64402	D	0.000016	T	0.16128	0.0388	.	.	.	0.24129	N	0.995778	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30563	-0.9974	8	0.07990	T	0.79	-32.8775	7.2848	0.26333	0.0:0.2036:0.0:0.7964	.	40;65	Q96FX2-2;Q96FX2	.;DPH3_HUMAN	L	65;40	.	ENSP00000373285:V40L	V	-	1	0	DPH3	16277331	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	1.606000	0.36826	0.362000	0.24319	0.491000	0.48974	GTG		0.388	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252108.2	NM_206831		G	16302327	C	G	16302327	3	3	621	1	0	0	0	0	1	0	0	0	4723	478	17	4	59	4	DPH3	3	16302327	Missense_Mutation	SNP	C	TCGA-DW-7837-01A-11D-2136-08	1606328	16302327	181720103	8	33801											
SLC22A13	9390	hgsc.bcm.edu	37	3	38317479	38317479	+	Missense_Mutation	SNP	C	C	A	rs117371763	byFrequency	TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr3:38317479C>A	ENST00000311856.4	+	7	1178	c.1129C>A	c.(1129-1131)Cgc>Agc	p.R377S	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	377					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGTGCCTGCCCGCTGTTCCAG	0.567																																																0													80	68	72					3																	38317479		2203	4300	6503	SO:0001583	missense	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1129C>A	chr3.hg19:g.38317479C>A	ENSP00000310241:p.Arg377Ser		B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	hg19	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101702	0.76983	.	.	ENSG00000172940	ENST00000311856	T	0.72942	-0.7	5.16	3.37	0.38596	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.048082	0.85682	D	0.000000	T	0.76579	0.4007	L	0.59967	1.855	0.80722	D	1	D;P	0.61697	0.99;0.946	D;P	0.64776	0.929;0.726	T	0.71642	-0.4531	10	0.21540	T	0.41	.	10.7573	0.46245	0.0:0.846:0.0:0.154	.	377;377	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	S	377	ENSP00000310241:R377S	ENSP00000310241:R377S	R	+	1	0	SLC22A13	38292483	0.991000	0.36638	0.943000	0.38184	0.893000	0.52053	2.927000	0.48900	0.696000	0.31696	0.655000	0.94253	CGC		0.567	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		A	38317479	C	A	38317479	3	1	621	1	0	0	0	0	1	0	0	0	14450	652	23	4	1155	4	SLC22A13	3	38317479	Missense_Mutation	SNP	C	TCGA-DW-7837-01A-11D-2136-08	22015152	38317479	159704951	9	33802											
PCDH7	5099	hgsc.bcm.edu	37	4	30724425	30724425	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr4:30724425A>G	ENST00000361762.2	+	1	2389	c.1381A>G	c.(1381-1383)Acc>Gcc	p.T461A	PCDH7_ENST00000543491.1_Missense_Mutation_p.T461A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	461	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T414P(1)|p.T461P(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGTCACCTGCACCGTGGTGGG	0.642																																																2	Substitution - Missense(2)	lung(2)											74	56	62					4																	30724425		2203	4300	6503	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1381A>G	chr4.hg19:g.30724425A>G	ENSP00000355243:p.Thr461Ala		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	hg19	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.21|14.21	2.465990|2.465990	0.43839|0.43839	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.48836	.|0.8;0.8	5.16|5.16	5.16|5.16	0.70880|0.70880	.|Cadherin (4);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.47002|0.47002	0.1422|0.1422	L|L	0.28694|0.28694	0.88|0.88	0.47819|0.47819	D|D	0.999523|0.999523	.|B;B;B	.|0.32653	.|0.328;0.328;0.379	.|B;B;P	.|0.44447	.|0.321;0.321;0.45	T|T	0.44174|0.44174	-0.9345|-0.9345	5|9	.|0.35671	.|T	.|0.21	.|.	15.1585|15.1585	0.72761|0.72761	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|461;414;461	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	R|A	150|461;461;414	.|ENSP00000355243:T461A;ENSP00000441802:T461A	.|ENSP00000330302:T414A	H|T	+|+	2|1	0|0	PCDH7|PCDH7	30333523|30333523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.956000|5.956000	0.70315|0.70315	2.164000|2.164000	0.68074|0.68074	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.642	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		G	30724425	A	G	30724425	3	3	621	1	0	0	0	0	1	0	0	0	11518	159	6	3	1383	3	PCDH7	4	30724425	Missense_Mutation	SNP	A	TCGA-DW-7837-01A-11D-2136-08		30724425	160429851	10	33803											
DDX60L	91351	hgsc.bcm.edu	37	4	169337906	169337906	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr4:169337906G>A	ENST00000511577.1	-	20	2900	c.2653C>T	c.(2653-2655)Ctc>Ttc	p.L885F	DDX60L_ENST00000260184.7_Missense_Mutation_p.L885F|DDX60L_ENST00000505890.1_Missense_Mutation_p.L885F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	885	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACAAGGAGGAGCTCCCAAAAT	0.343																																																0													107	102	104					4																	169337906		1833	4116	5949	SO:0001583	missense	91351			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2653C>T	chr4.hg19:g.169337906G>A	ENSP00000422423:p.Leu885Phe		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.04	2.714600	0.48622	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.74526	-0.85;-0.85;1.2;1.2	3.42	3.42	0.39159	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.183055	0.25361	U	0.031226	T	0.69124	0.3076	L	0.49640	1.575	0.25638	N	0.986238	P;P;P	0.45283	0.855;0.769;0.855	B;B;B	0.41510	0.359;0.288;0.359	T	0.66164	-0.5992	10	0.66056	D	0.02	.	13.027	0.58821	0.0:0.0:1.0:0.0	.	885;885;885	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	F	885;885;885;581	ENSP00000260184:L885F;ENSP00000422423:L885F;ENSP00000422202:L885F;ENSP00000421026:L581F	ENSP00000260184:L885F	L	-	1	0	DDX60L	169574481	1.000000	0.71417	0.896000	0.35187	0.943000	0.58893	5.558000	0.67319	1.619000	0.50296	0.461000	0.40582	CTC		0.343	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		A	169337906	G	A	169337906	3	1	621	1	0	0	0	0	1	0	0	0	4381	971	34	2	2543	2	DDX60L	4	169337906	Missense_Mutation	SNP	G	TCGA-DW-7837-01A-11D-2136-08	138613481	169337906	21816370	11	33804											
MAP3K1	4214	hgsc.bcm.edu	37	5	56177037	56177037	+	Silent	SNP	T	T	A			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr5:56177037T>A	ENST00000399503.3	+	13	2307	c.2307T>A	c.(2305-2307)ccT>ccA	p.P769P		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	769					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGGAATTTCCTGCTGAATTTT	0.348																																																0													164	147	152					5																	56177037		1836	4079	5915	SO:0001819	synonymous_variant	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2307T>A	chr5.hg19:g.56177037T>A				Silent	SNP	ENST00000399503.3	hg19	CCDS43318.1																																																																																				0.348	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		A	56177037	T	A	56177037	2	1	621	1	0	0	0	0	0	0	0	1	9245	1567	55	5		5	MAP3K1	5	56177037	Silent	SNP	T	TCGA-DW-7837-01A-11D-2136-08		56177037	124738223	12	33805											
PPP1R9A	55607	hgsc.bcm.edu	37	7	94827675	94827675	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr7:94827675G>T	ENST00000433881.1	+	6	2301	c.1769G>T	c.(1768-1770)cGg>cTg	p.R590L	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R590L|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R590L|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.R590L|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R590L|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R590L			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	590	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTTATTGGGCGGGAAAAACCA	0.453										HNSCC(28;0.073)																																						0													75	75	75					7																	94827675		2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1769G>T	chr7.hg19:g.94827675G>T	ENSP00000398870:p.Arg590Leu		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	hg19	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759811	0.69763	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.61	5.61	0.85477	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	H	0.97758	4.07	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.987;0.997	D	0.88812	0.3292	10	0.87932	D	0	.	20.0173	0.97481	0.0:0.0:1.0:0.0	.	590;590;590;590;590	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	L	590	ENSP00000405514:R590L;ENSP00000344524:R590L;ENSP00000411342:R590L;ENSP00000398870:R590L;ENSP00000289495:R590L;ENSP00000402893:R590L	ENSP00000289495:R590L	R	+	2	0	PPP1R9A	94665611	1.000000	0.71417	0.992000	0.48379	0.038000	0.13279	9.718000	0.98758	2.814000	0.96858	0.591000	0.81541	CGG		0.453	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		T	94827675	G	T	94827675	3	4	621	1	0	0	0	0	1	0	0	0	12383	1116	39	4	1787	4	PPP1R9A	7	94827675	Missense_Mutation	SNP	G	TCGA-DW-7837-01A-11D-2136-08		94827675	64310988	13	33806											
DUS4L	11062	hgsc.bcm.edu	37	7	107216872	107216872	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr7:107216872T>A	ENST00000265720.3	+	7	903	c.541T>A	c.(541-543)Tca>Aca	p.S181T	DUS4L_ENST00000402620.1_Missense_Mutation_p.S60T	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	181							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						AACAGGAGTTTCATGGATTAC	0.353																																																0													81	76	78					7																	107216872		2203	4300	6503	SO:0001583	missense	11062			U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"protein similar to E.coli yhdg and R. capsulatus nifR3"						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.541T>A	chr7.hg19:g.107216872T>A	ENSP00000265720:p.Ser181Thr		B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	hg19	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	T	8.361	0.833117	0.16820	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.22539	1.95;1.95	6.01	3.59	0.41128	Aldolase-type TIM barrel (1);	0.166724	0.56097	D	0.000035	T	0.18130	0.0435	L	0.48935	1.535	0.51233	D	0.99991	B;B	0.16396	0.017;0.017	B;B	0.25291	0.059;0.059	T	0.05468	-1.0883	10	0.26408	T	0.33	.	8.1312	0.31029	0.1207:0.0651:0.0:0.8142	.	181;181	A4D0R5;O95620	.;DUS4L_HUMAN	T	181;60	ENSP00000265720:S181T;ENSP00000385274:S60T	ENSP00000265720:S181T	S	+	1	0	DUS4L	107004108	1.000000	0.71417	0.680000	0.29994	0.052000	0.14988	5.909000	0.69923	0.489000	0.27749	-0.297000	0.09499	TCA		0.353	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581		A	107216872	T	A	107216872	3	1	621	1	0	0	0	0	1	0	0	0	4810	1783	62	5	559	5	DUS4L	7	107216872	Missense_Mutation	SNP	T	TCGA-DW-7837-01A-11D-2136-08	12389197	107216872	51921791	14	33807											
TRIM24	8805	hgsc.bcm.edu	37	7	138145434	138145434	+	Silent	SNP	G	G	A			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr7:138145434G>A	ENST00000343526.4	+	1	356	c.141G>A	c.(139-141)gcG>gcA	p.A47A	TRIM24_ENST00000415680.2_Silent_p.A47A			O15164	TIF1A_HUMAN	tripartite motif containing 24	47					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GCGGCGAGGCGGCCCGGCTCA	0.746																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											0													5	7	6					7																	138145434		1615	3579	5194	SO:0001819	synonymous_variant	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.141G>A	chr7.hg19:g.138145434G>A			A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	hg19	CCDS5847.1																																																																																				0.746	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		A	138145434	G	A	138145434	2	1	621	1	0	0	0	0	0	0	0	1	16503	1103	39	1		1	TRIM24	7	138145434	Silent	SNP	G	TCGA-DW-7837-01A-11D-2136-08	30928562	138145434	20993229	15	33808											
CLU	1191	hgsc.bcm.edu	37	8	27457323	27457323	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr8:27457323C>G	ENST00000316403.10	-	7	1543	c.1138G>C	c.(1138-1140)Gac>Cac	p.D380H	CLU_ENST00000405140.3_Missense_Mutation_p.D380H|CLU_ENST00000560366.1_Missense_Mutation_p.D432H|CLU_ENST00000546343.1_Missense_Mutation_p.D391H|CLU_ENST00000523500.1_Missense_Mutation_p.D380H			P10909	CLUS_HUMAN	clusterin	380					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TAGTACTGGTCTTCGCCTTGC	0.602																																																0													71	57	62					8																	27457323		2203	4300	6503	SO:0001583	missense	1191			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.1138G>C	chr8.hg19:g.27457323C>G	ENSP00000315130:p.Asp380His		B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	hg19	CCDS47832.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.93|17.93|17.93	3.509052|3.509052|3.509052	0.64410|0.64410|0.64410	.|.|.	.|.|.	ENSG00000120885|ENSG00000120885|ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012|ENST00000521770|ENST00000522098	T;T;T|.|.	0.23754|.|.	1.89;1.89;1.89|.|.	5.62|5.62|5.62	3.57|3.57|3.57	0.40892|0.40892|0.40892	Clusterin, C-terminal (1);|.|.	0.252635|.|.	0.44688|.|.	D|.|.	0.000435|.|.	T|T|T	0.55768|0.55768|0.55768	0.1941|0.1941|0.1941	M|M|M	0.81942|0.81942|0.81942	2.565|2.565|2.565	0.19300|0.19300|0.19300	N|N|N	0.999975|0.999975|0.999975	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;0.99|.|.	D;D;D;D|.|.	0.91635|.|.	0.995;0.999;0.999;0.912|.|.	T|T|T	0.51988|0.51988|0.51988	-0.8635|-0.8635|-0.8635	10|5|5	0.87932|.|.	D|.|.	0|.|.	-20.387|-20.387|-20.387	5.2925|5.2925|5.2925	0.15735|0.15735|0.15735	0.0:0.6574:0.0:0.3426|0.0:0.6574:0.0:0.3426|0.0:0.6574:0.0:0.3426	.|.|.	245;432;391;380|.|.	E7ETA7;P10909-2;P10909-5;P10909|.|.	.;.;.;CLUS_HUMAN|.|.	H|N|T	432;391;380;380;205;245|70|242	ENSP00000446413:D391H;ENSP00000385419:D380H;ENSP00000429620:D380H|.|.	ENSP00000315130:D432H|.|.	D|K|R	-|-|-	1|3|2	0|2|0	CLU|CLU|CLU	27513240|27513240|27513240	0.048000|0.048000|0.048000	0.20356|0.20356|0.20356	0.005000|0.005000|0.005000	0.12908|0.12908|0.12908	0.275000|0.275000|0.275000	0.26752|0.26752|0.26752	1.118000|1.118000|1.118000	0.31246|0.31246|0.31246	1.363000|1.363000|1.363000	0.46019|0.46019|0.46019	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|AAG|AGA		0.602	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		G	27457323	C	G	27457323	3	3	621	1	0	0	0	0	1	0	0	0	3570	913	32	4	223	4	CLU	8	27457323	Missense_Mutation	SNP	C	TCGA-DW-7837-01A-11D-2136-08		27457323	118906699	16	33809											
MYST3	7994	hgsc.bcm.edu	37	8	41791942	41791942	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr8:41791942T>G	ENST00000396930.3	-	18	4339	c.3796A>C	c.(3796-3798)Aag>Cag	p.K1266Q	KAT6A_ENST00000265713.2_Missense_Mutation_p.K1266Q|KAT6A_ENST00000406337.1_Missense_Mutation_p.K1266Q	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1266					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										tcAGGCTCCTTGGTTTCGGTC	0.582																																																0													70	57	61					8																	41791942		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3796A>C	chr8.hg19:g.41791942T>G	ENSP00000380136:p.Lys1266Gln		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	hg19	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	5.700	0.313720	0.10789	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.59772	0.24;0.24;0.24	5.95	5.95	0.96441	.	0.067727	0.64402	D	0.000010	T	0.59582	0.2204	L	0.27053	0.805	0.33409	D	0.578344	D	0.71674	0.998	P	0.59115	0.852	T	0.63382	-0.6650	10	0.18710	T	0.47	-26.6212	16.4159	0.83738	0.0:0.0:0.0:1.0	.	1266	Q92794	KAT6A_HUMAN	Q	1266	ENSP00000265713:K1266Q;ENSP00000385888:K1266Q;ENSP00000380136:K1266Q	ENSP00000265713:K1266Q	K	-	1	0	KAT6A	41911099	0.647000	0.27304	0.108000	0.21378	0.021000	0.10359	1.215000	0.32431	2.279000	0.76181	0.533000	0.62120	AAG		0.582	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		G	41791942	T	G	41791942	3	3	621	1	0	0	0	0	1	0	0	0	10106	1821	63	5	2222	5	MYST3	8	41791942	Missense_Mutation	SNP	T	TCGA-DW-7837-01A-11D-2136-08	14334619	41791942	104572080	17	33810											
TRPM3	80036	hgsc.bcm.edu	37	9	73213442	73213442	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr9:73213442C>A	ENST00000377111.2	-	20	3148	c.2905G>T	c.(2905-2907)Ggg>Tgg	p.G969W	TRPM3_ENST00000377105.1_Missense_Mutation_p.G828W|TRPM3_ENST00000377106.1_Missense_Mutation_p.G841W|TRPM3_ENST00000408909.2_Missense_Mutation_p.G828W|TRPM3_ENST00000377110.3_Missense_Mutation_p.G969W|TRPM3_ENST00000358082.3_Missense_Mutation_p.G831W|TRPM3_ENST00000357533.2_Missense_Mutation_p.G973W|TRPM3_ENST00000396280.5_Missense_Mutation_p.G818W|TRPM3_ENST00000396285.1_Missense_Mutation_p.G816W|TRPM3_ENST00000423814.3_Missense_Mutation_p.G996W|TRPM3_ENST00000360823.2_Missense_Mutation_p.G831W|TRPM3_ENST00000396292.4_Missense_Mutation_p.G841W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	994					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.G973W(1)|p.G841W(1)|p.G969W(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGACCCTCCCGTCACTCCTG	0.498																																																3	Substitution - Missense(3)	lung(3)											138	125	129					9																	73213442		2203	4300	6503	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2905G>T	chr9.hg19:g.73213442C>A	ENSP00000366315:p.Gly969Trp		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.478419|4.478419	0.84747|0.84747	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.74842|.	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86752|0.86752	0.6008|0.6008	M|M	0.93720|0.93720	3.45|3.45	0.58432|0.58432	D|D	0.999994|0.999994	D;P;D;D;D;D;D;D|.	0.89917|.	1.0;0.813;1.0;1.0;0.999;0.999;1.0;0.994|.	D;B;D;D;D;D;D;D|.	0.97110|.	0.987;0.415;1.0;1.0;0.997;0.993;1.0;0.989|.	D|D	0.90516|0.90516	0.4485|0.4485	10|5	0.87932|.	D|.	0|.	-17.254|-17.254	18.3586|18.3586	0.90367|0.90367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	969;969;959;973;831;828;941;816|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	W|L	969;969;841;831;828;973;828;816;841;831;996|817	ENSP00000366315:G969W;ENSP00000366314:G969W;ENSP00000366310:G841W;ENSP00000354066:G831W;ENSP00000366309:G828W;ENSP00000350140:G973W;ENSP00000386127:G828W;ENSP00000379581:G816W;ENSP00000379587:G841W;ENSP00000350791:G831W;ENSP00000389542:G996W|.	ENSP00000350140:G973W|.	G|R	-|-	1|2	0|0	TRPM3|TRPM3	72403262|72403262	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.958000|0.958000	0.62258|0.62258	7.479000|7.479000	0.81095|0.81095	2.405000|2.405000	0.81733|0.81733	0.573000|0.573000	0.79308|0.79308	GGG|CGG		0.498	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		A	73213442	C	A	73213442	3	1	621	1	0	0	0	0	1	0	0	0	16592	652	23	4	2242	4	TRPM3	9	73213442	Missense_Mutation	SNP	C	TCGA-DW-7837-01A-11D-2136-08		73213442	67999989	18	33811											
PRPF18	8559	hgsc.bcm.edu	37	10	13658431	13658431	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr10:13658431A>G	ENST00000378572.3	+	9	986	c.826A>G	c.(826-828)Aat>Gat	p.N276D		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	276					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GGCCATTGGAAATGCGCCTTG	0.413																																																0													152	141	145					10																	13658431		2203	4300	6503	SO:0001583	missense	8559			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"PRP18 pre-mRNA processing factor 18 homolog (yeast)", "PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.826A>G	chr10.hg19:g.13658431A>G	ENSP00000367835:p.Asn276Asp		Q5T9P9|Q9BUI9	Missense_Mutation	SNP	ENST00000378572.3	hg19	CCDS7100.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790746	0.90367	.	.	ENSG00000165630	ENST00000378572;ENST00000298451	.	.	.	5.3	5.3	0.74995	Prp18 (3);	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	H	0.94886	3.595	0.80722	D	1	D	0.65815	0.995	D	0.75020	0.985	D	0.90319	0.4343	9	0.87932	D	0	-32.2513	15.2507	0.73542	1.0:0.0:0.0:0.0	.	276	Q99633	PRP18_HUMAN	D	276;38	.	ENSP00000298451:N38D	N	+	1	0	PRPF18	13698437	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.320000	0.96346	2.006000	0.58801	0.528000	0.53228	AAT		0.413	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			G	13658431	A	G	13658431	3	3	621	1	0	0	0	0	1	0	0	0	12568	14	1	3	860	3	PRPF18	10	13658431	Missense_Mutation	SNP	A	TCGA-DW-7837-01A-11D-2136-08		13658431	121876316	19	33812											
CUBN	8029	hgsc.bcm.edu	37	10	16957909	16957910	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr10:16957909_16957910insA	ENST00000377833.4	-	46	7185_7186	c.7120_7121insT	c.(7120-7122)tatfs	p.Y2374fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2374	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATGGTGAGATAGTGTCCAGAG	0.436																																																0																																										SO:0001589	frameshift_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7121dupT	chr10.hg19:g.16957910_16957910dupA	ENSP00000367064:p.Tyr2374fs		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Ins	INS	ENST00000377833.4	hg19	CCDS7113.1																																																																																				0.436	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		A	16957910	-	A	16957909	7	5	621	1	0	1	1	0	0	0	0	0	4053	1406	49	0	3838	0	CUBN	10	16957909	Frame_Shift_Ins	INS	-	TCGA-DW-7837-01A-11D-2136-08	3299478	16957909	118576838	20	33813											
CYP26A1	1592	hgsc.bcm.edu	37	10	94834144	94834144	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr10:94834144G>T	ENST00000224356.4	+	2	314	c.269G>T	c.(268-270)cGg>cTg	p.R90L	CYP26A1_ENST00000394139.1_Missense_Mutation_p.R21L|CYP26A1_ENST00000371531.1_Missense_Mutation_p.R21L	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	90					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.R21L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CCCACCGTACGGGTGATGGGC	0.632																																																1	Substitution - Missense(1)	lung(1)											88	93	91					10																	94834144		2203	4300	6503	SO:0001583	missense	1592			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.269G>T	chr10.hg19:g.94834144G>T	ENSP00000224356:p.Arg90Leu		B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	hg19	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461853	0.84425	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.65916	-0.18;-0.18;-0.18	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	L	0.45228	1.405	0.80722	D	1	P	0.43412	0.806	P	0.53649	0.731	T	0.61792	-0.6990	10	0.25751	T	0.34	-20.5899	18.8725	0.92320	0.0:0.0:1.0:0.0	.	90	O43174	CP26A_HUMAN	L	21;90;21	ENSP00000360586:R21L;ENSP00000224356:R90L;ENSP00000377695:R21L	ENSP00000224356:R90L	R	+	2	0	CYP26A1	94824134	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	9.187000	0.94912	2.711000	0.92665	0.561000	0.74099	CGG		0.632	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			T	94834144	G	T	94834144	3	4	621	1	0	0	0	0	1	0	0	0	4157	1116	39	4	275	4	CYP26A1	10	94834144	Missense_Mutation	SNP	G	TCGA-DW-7837-01A-11D-2136-08	77876235	94834144	40700603	21	33814											
ARHGEF17	9828	hgsc.bcm.edu	37	11	73066676	73066676	+	Silent	SNP	C	C	G			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr11:73066676C>G	ENST00000263674.3	+	4	3902	c.3552C>G	c.(3550-3552)gcC>gcG	p.A1184A	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1184	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGAGGCCTGCCTTTCTCAAGT	0.557																																																0													92	88	90					11																	73066676		2200	4293	6493	SO:0001819	synonymous_variant	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3552C>G	chr11.hg19:g.73066676C>G			B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	hg19	CCDS8221.1																																																																																				0.557	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		G	73066676	C	G	73066676	2	3	621	1	0	0	0	0	0	0	0	1	900	668	24	4		4	ARHGEF17	11	73066676	Silent	SNP	C	TCGA-DW-7837-01A-11D-2136-08		73066676	61939840	22	33815											
FAT3	120114	hgsc.bcm.edu	37	11	92568207	92568207	+	Missense_Mutation	SNP	C	C	G	rs376234071		TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr11:92568207C>G	ENST00000298047.6	+	14	10060	c.10043C>G	c.(10042-10044)gCg>gGg	p.A3348G	FAT3_ENST00000409404.2_Missense_Mutation_p.A3348G|FAT3_ENST00000525166.1_Missense_Mutation_p.A3198G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3348	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3348V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCTACAGTGCGGTTATCAGT	0.517										TCGA Ovarian(4;0.039)																																						2	Substitution - Missense(2)	endometrium(2)											53	53	53					11																	92568207		1941	4149	6090	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10043C>G	chr11.hg19:g.92568207C>G	ENSP00000298047:p.Ala3348Gly		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	hg19		.	.	.	.	.	.	.	.	.	.	C	17.79	3.475779	0.63737	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.54479	0.57;0.57;0.57	5.46	5.46	0.80206	.	.	.	.	.	T	0.66636	0.2809	L	0.46819	1.47	0.80722	D	1	D	0.71674	0.998	D	0.64410	0.925	T	0.66296	-0.5959	9	0.51188	T	0.08	.	19.3231	0.94250	0.0:1.0:0.0:0.0	.	3348	Q8TDW7-3	.	G	3348;3348;3198	ENSP00000298047:A3348G;ENSP00000387040:A3348G;ENSP00000432586:A3198G	ENSP00000298047:A3348G	A	+	2	0	FAT3	92207855	0.998000	0.40836	0.060000	0.19600	0.269000	0.26545	4.891000	0.63185	2.539000	0.85634	0.655000	0.94253	GCG		0.517	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		G	92568207	C	G	92568207	3	3	621	1	0	0	0	0	1	0	0	0	5693	768	27	4	10097	4	FAT3	11	92568207	Missense_Mutation	SNP	C	TCGA-DW-7837-01A-11D-2136-08	19501531	92568207	42438309	23	33816											
R3HDM2	22864	hgsc.bcm.edu	37	12	57652719	57652719	+	Missense_Mutation	SNP	C	C	A	rs199873508		TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr12:57652719C>A	ENST00000347140.3	-	20	2603	c.2213G>T	c.(2212-2214)cGg>cTg	p.R738L	R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R772L|R3HDM2_ENST00000402412.1_Missense_Mutation_p.R752L|R3HDM2_ENST00000441731.2_Missense_Mutation_p.R433L|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R738L|R3HDM2_ENST00000413953.2_Missense_Mutation_p.R465L|RP11-123K3.4_ENST00000548184.1_3'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	738						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTCTGCCCCCGCTGGTCCAT	0.567																																																0													81	75	77					12																	57652719		2203	4300	6503	SO:0001583	missense	22864			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2213G>T	chr12.hg19:g.57652719C>A	ENSP00000317903:p.Arg738Leu		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	hg19	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	33	5.206223	0.95033	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000548161	T;T;T;T;T;T;T;T	0.69561	-0.24;-0.41;0.45;0.5;0.45;-0.34;0.27;0.51	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	L	0.58810	1.83	0.51012	D	0.999908	D;D;D;D	0.69078	0.997;0.997;0.993;0.996	D;D;D;D	0.79108	0.987;0.987;0.982;0.992	T	0.79443	-0.1801	10	0.56958	D	0.05	-20.7023	18.0941	0.89483	0.0:1.0:0.0:0.0	.	772;752;738;465	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	L	465;465;738;752;738;433;503;772;127	ENSP00000409146:R465L;ENSP00000377400:R465L;ENSP00000317903:R738L;ENSP00000385839:R752L;ENSP00000351784:R738L;ENSP00000408536:R433L;ENSP00000394676:R503L;ENSP00000385169:R772L	ENSP00000317903:R738L	R	-	2	0	R3HDM2	55938986	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.027000	0.64109	2.885000	0.99019	0.655000	0.94253	CGG		0.567	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		A	57652719	C	A	57652719	3	1	621	1	0	0	0	0	1	0	0	0	12894	652	23	4	737	4	R3HDM2	12	57652719	Missense_Mutation	SNP	C	TCGA-DW-7837-01A-11D-2136-08		57652719	76199176	24	33817											
CENPJ	55835	hgsc.bcm.edu	37	13	25466977	25466977	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr13:25466977C>A	ENST00000381884.4	-	10	3205	c.3020G>T	c.(3019-3021)cGg>cTg	p.R1007L	CENPJ_ENST00000545981.1_Missense_Mutation_p.R1007L	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1007					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CAAATCTTCCCGTAAATCTGC	0.348																																																0													141	138	139					13																	25466977		2203	4300	6503	SO:0001583	missense	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3020G>T	chr13.hg19:g.25466977C>A	ENSP00000371308:p.Arg1007Leu		Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	hg19	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753145	0.49362	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.35973	1.28;1.86	5.22	2.78	0.32641	.	0.113214	0.64402	D	0.000008	T	0.23330	0.0564	N	0.19112	0.55	0.32091	N	0.591866	B;B	0.25563	0.129;0.0	B;B	0.25614	0.062;0.0	T	0.18618	-1.0331	10	0.66056	D	0.02	.	9.9179	0.41446	0.0:0.1055:0.0:0.8945	.	88;1007	Q5T6R6;Q9HC77	.;CENPJ_HUMAN	L	1007	ENSP00000371308:R1007L;ENSP00000441090:R1007L	ENSP00000371308:R1007L	R	-	2	0	CENPJ	24364977	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.540000	0.60664	0.381000	0.24851	-0.263000	0.10527	CGG		0.348	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		A	25466977	C	A	25466977	3	1	621	1	0	0	0	0	1	0	0	0	3236	652	23	4	1028	4	CENPJ	13	25466977	Missense_Mutation	SNP	C	TCGA-DW-7837-01A-11D-2136-08		25466977	89702901	25	33818											
KCNH5	27133	hgsc.bcm.edu	37	14	63483656	63483656	+	Silent	SNP	C	C	G			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr14:63483656C>G	ENST00000322893.7	-	2	358	c.90G>C	c.(88-90)ctG>ctC	p.L30L	KCNH5_ENST00000394968.1_5'UTR|KCNH5_ENST00000394964.2_5'UTR|KCNH5_ENST00000420622.2_Silent_p.L30L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	30	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCATTTCCCAGTAAGAAAC	0.363																																																0													85	80	82					14																	63483656		2203	4299	6502	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.90G>C	chr14.hg19:g.63483656C>G			C9JP98	Silent	SNP	ENST00000322893.7	hg19	CCDS9756.1																																																																																				0.363	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		G	63483656	C	G	63483656	2	3	621	1	0	0	0	0	0	0	0	1	8037	581	21	4		4	KCNH5	14	63483656	Silent	SNP	C	TCGA-DW-7837-01A-11D-2136-08		63483656	43865884	26	33819											
OR4N4	283694	hgsc.bcm.edu	37	15	22383017	22383017	+	Missense_Mutation	SNP	G	G	C	rs150038016	byFrequency	TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr15:22383017G>C	ENST00000328795.4	+	1	636	c.545G>C	c.(544-546)cGa>cCa	p.R182P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTGATGTCCGACAGGTCATC	0.527																																																0													96	79	84					15																	22383017		2189	4257	6446	SO:0001583	missense	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.545G>C	chr15.hg19:g.22383017G>C	ENSP00000332500:p.Arg182Pro		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	hg19	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.362066	0.00214	.	.	ENSG00000183706	ENST00000328795	T	0.00026	8.94	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	N	0.000173	T	0.00039	0.0001	N	0.00014	-2.915	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30563	-0.9974	10	0.09084	T	0.74	-0.3003	6.2571	0.20879	0.2138:0.5784:0.2077:0.0	.	182	Q8N0Y3	OR4N4_HUMAN	P	182	ENSP00000332500:R182P	ENSP00000332500:R182P	R	+	2	0	OR4N4	19884381	0.000000	0.05858	0.995000	0.50966	0.462000	0.32619	-0.407000	0.07178	0.750000	0.32877	-0.499000	0.04595	CGA		0.527	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			C	22383017	G	C	22383017	3	2	621	1	0	0	0	0	1	0	0	0	11080	1058	37	4	547	4	OR4N4	15	22383017	Missense_Mutation	SNP	G	TCGA-DW-7837-01A-11D-2136-08		22383017	80148375	27	33820											
RAB11A	8766	hgsc.bcm.edu	37	15	66180113	66180113	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr15:66180113G>C	ENST00000261890.2	+	5	714	c.586G>C	c.(586-588)Gtt>Ctt	p.V196L	RAB11A_ENST00000569896.1_3'UTR|RAB11A_ENST00000564910.1_Missense_Mutation_p.V126L|RAB11A_ENST00000565075.1_Missense_Mutation_p.V178L	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	196					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						CAACAATGTGGTTCCTATTCA	0.428																																																0													137	123	128					15																	66180113		2201	4299	6500	SO:0001583	missense	8766			X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"RAB, member RAS oncogene"	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.586G>C	chr15.hg19:g.66180113G>C	ENSP00000261890:p.Val196Leu		B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	ENST00000261890.2	hg19	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783421	0.49891	.	.	ENSG00000103769	ENST00000261890	T	0.63744	-0.06	5.45	5.45	0.79879	.	0.056657	0.64402	D	0.000001	T	0.45316	0.1336	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29397	-1.0013	10	0.29301	T	0.29	.	19.3	0.94140	0.0:0.0:1.0:0.0	.	196	P62491	RB11A_HUMAN	L	196	ENSP00000261890:V196L	ENSP00000261890:V196L	V	+	1	0	RAB11A	63967167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.547000	0.85894	0.655000	0.94253	GTT		0.428	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1			C	66180113	G	C	66180113	3	2	621	1	0	0	0	0	1	0	0	0	12897	1261	44	4	604	4	RAB11A	15	66180113	Missense_Mutation	SNP	G	TCGA-DW-7837-01A-11D-2136-08	43797096	66180113	36351279	28	33821											
RSPRY1	89970	hgsc.bcm.edu	37	16	57265132	57265132	+	Missense_Mutation	SNP	A	A	G	rs368309991		TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr16:57265132A>G	ENST00000537866.1	+	13	2303	c.1430A>G	c.(1429-1431)aAt>aGt	p.N477S	RSPRY1_ENST00000394420.4_Missense_Mutation_p.N477S|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	477	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGTGAGTTCAATTTTGGAGCA	0.333																																																0								A	SER/ASN	1,4395	2.1+/-5.4	0,1,2197	108	104	105		1430	5.8	1	16		105	0,8600		0,0,4300	no	missense	RSPRY1	NM_133368.1	46	0,1,6497	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	477/577	57265132	1,12995	2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1430A>G	chr16.hg19:g.57265132A>G	ENSP00000443176:p.Asn477Ser		Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	hg19	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.863491	0.91511	2.27E-4	0.0	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.75704	-0.96;-0.96	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.89777	0.6813	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92360	0.5896	10	0.87932	D	0	.	16.1167	0.81309	1.0:0.0:0.0:0.0	.	477	Q96DX4	RSPRY_HUMAN	S	477	ENSP00000377942:N477S;ENSP00000443176:N477S	ENSP00000377942:N477S	N	+	2	0	RSPRY1	55822633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.204000	0.70986	0.528000	0.53228	AAT		0.333	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		G	57265132	A	G	57265132	3	3	621	1	0	0	0	0	1	0	0	0	13719	101	4	3	1476	3	RSPRY1	16	57265132	Missense_Mutation	SNP	A	TCGA-DW-7837-01A-11D-2136-08		57265132	33089621	29	33822											
FAM57A	79850	hgsc.bcm.edu	37	17	643752	643752	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr17:643752G>T	ENST00000308278.8	+	4	652	c.416G>T	c.(415-417)cGg>cTg	p.R139L	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	139	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CAGAGGCTCCGGGGAGACCTT	0.512																																																0													103	100	101					17																	643752		2203	4300	6503	SO:0001583	missense	79850			AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.416G>T	chr17.hg19:g.643752G>T	ENSP00000312017:p.Arg139Leu		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	hg19	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780072	0.90195	.	.	ENSG00000167695	ENST00000308278;ENST00000451373	.	.	.	6.17	6.17	0.99709	TRAM/LAG1/CLN8 homology domain (3);	0.043459	0.85682	D	0.000000	D	0.83949	0.5365	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79320	-0.1852	9	0.11182	T	0.66	-23.056	19.8676	0.96824	0.0:0.0:1.0:0.0	.	139	Q8TBR7	FA57A_HUMAN	L	139;212	.	ENSP00000312017:R139L	R	+	2	0	FAM57A	590502	1.000000	0.71417	0.989000	0.46669	0.242000	0.25591	9.718000	0.98758	2.941000	0.99782	0.655000	0.94253	CGG		0.512	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		T	643752	G	T	643752	3	4	621	1	0	0	0	0	1	0	0	0	5590	1116	39	4	430	4	FAM57A	17	643752	Missense_Mutation	SNP	G	TCGA-DW-7837-01A-11D-2136-08		643752	80551458	30	33823											
PER1	5187	hgsc.bcm.edu	37	17	8045244	8045244	+	Missense_Mutation	SNP	C	C	A	rs373929413		TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr17:8045244C>A	ENST00000317276.4	-	22	3716	c.3479G>T	c.(3478-3480)cGg>cTg	p.R1160L	PER1_ENST00000581082.1_Missense_Mutation_p.R1137L|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1160	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.R1160L(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAGCCGCTCCCGATCCTGCTT	0.632			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	1	Substitution - Missense(1)	lung(1)											50	54	53					17																	8045244		2203	4300	6503	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3479G>T	chr17.hg19:g.8045244C>A	ENSP00000314420:p.Arg1160Leu		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	hg19	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155795	0.94686	.	.	ENSG00000179094	ENST00000317276	T	0.14022	2.54	5.67	4.64	0.57946	Period circadian-like, C-terminal (1);	0.066928	0.64402	D	0.000009	T	0.16085	0.0387	L	0.28649	0.875	0.80722	D	1	D;P	0.58268	0.982;0.951	P;B	0.51516	0.672;0.429	T	0.01013	-1.1481	10	0.33141	T	0.24	-21.4261	13.1256	0.59354	0.1607:0.8393:0.0:0.0	.	1151;1160	A2I2P6;O15534	.;PER1_HUMAN	L	1160	ENSP00000314420:R1160L	ENSP00000314420:R1160L	R	-	2	0	PER1	7985969	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.309000	0.43699	2.697000	0.92050	0.655000	0.94253	CGG		0.632	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			A	8045244	C	A	8045244	3	1	621	1	0	0	0	0	1	0	0	0	11731	652	23	4	401	4	PER1	17	8045244	Missense_Mutation	SNP	C	TCGA-DW-7837-01A-11D-2136-08	7401492	8045244	73149966	31	33824											
NCOR1	9611	hgsc.bcm.edu	37	17	15935762	15935762	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr17:15935762G>C	ENST00000268712.3	-	46	7428	c.7171C>G	c.(7171-7173)Cgg>Ggg	p.R2391G	NCOR1_ENST00000395851.1_Missense_Mutation_p.R2288G|NCOR1_ENST00000395857.3_Missense_Mutation_p.R975G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2391	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R2391W(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGAGCATCCGCATAGTCAGA	0.468																																																1	Substitution - Missense(1)	prostate(1)											117	106	110					17																	15935762		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.7171C>G	chr17.hg19:g.15935762G>C	ENSP00000268712:p.Arg2391Gly		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596051	0.46318	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.61040	0.14;0.75;0.25	5.96	3.9	0.45041	.	0.048575	0.85682	D	0.000000	T	0.53367	0.1792	L	0.60455	1.87	0.58432	D	0.999992	B;B;B;B;B	0.29341	0.036;0.013;0.242;0.132;0.06	B;B;B;B;B	0.31614	0.022;0.01;0.133;0.089;0.05	T	0.52990	-0.8501	10	0.56958	D	0.05	-9.7742	10.6076	0.45402	0.0:0.1166:0.4874:0.3961	.	2294;2391;2288;910;404	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	G	2391;2288;2294;975	ENSP00000268712:R2391G;ENSP00000379192:R2288G;ENSP00000379198:R975G	ENSP00000268712:R2391G	R	-	1	2	NCOR1	15876487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.109000	0.50345	0.780000	0.33566	-0.181000	0.13052	CGG		0.468	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		C	15935762	G	C	15935762	3	2	621	1	0	0	0	0	1	0	0	0	10237	1086	38	4	155	4	NCOR1	17	15935762	Missense_Mutation	SNP	G	TCGA-DW-7837-01A-11D-2136-08	7890518	15935762	65259448	32	33825											
RND2	8153	hgsc.bcm.edu	37	17	41180521	41180521	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr17:41180521G>A	ENST00000587250.2	+	5	615	c.508G>A	c.(508-510)Gtc>Atc	p.V170I	RND2_ENST00000544533.1_Missense_Mutation_p.V171I|CTD-3199J23.4_ENST00000225973.5_lincRNA			P52198	RND2_HUMAN	Rho family GTPase 2	170					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGAGCGCAGCGTCAGGGATGT	0.622																																																0													67	63	65					17																	41180521		2203	4300	6503	SO:0001583	missense	8153			X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"ras homolog gene family, member N"	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.508G>A	chr17.hg19:g.41180521G>A	ENSP00000466680:p.Val170Ile		A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	ENST00000587250.2	hg19	CCDS11452.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941209	0.92526	.	.	ENSG00000108830	ENST00000544533;ENST00000225973	T	0.80653	-1.4	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81621	0.4861	L	0.36672	1.1	0.80722	D	1	P	0.41643	0.758	P	0.48704	0.587	T	0.82420	-0.0466	10	0.66056	D	0.02	.	19.2909	0.94098	0.0:0.0:1.0:0.0	.	170	P52198	RND2_HUMAN	I	171;170	ENSP00000439328:V171I	ENSP00000225973:V170I	V	+	1	0	RND2	38434047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.623000	0.98386	2.894000	0.99253	0.655000	0.94253	GTC		0.622	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2	NM_005440		A	41180521	G	A	41180521	3	1	621	1	0	0	0	0	1	0	0	0	13426	1145	40	1	526	1	RND2	17	41180521	Missense_Mutation	SNP	G	TCGA-DW-7837-01A-11D-2136-08	25244759	41180521	40014689	33	33826											
EVPL	2125	hgsc.bcm.edu	37	17	74005355	74005355	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr17:74005355T>G	ENST00000301607.3	-	22	4184	c.3931A>C	c.(3931-3933)Aag>Cag	p.K1311Q	EVPL_ENST00000586740.1_Missense_Mutation_p.K1333Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1311	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCACCGTCTTGGTCTCCACC	0.682																																																0													105	114	111					17																	74005355		2202	4300	6502	SO:0001583	missense	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3931A>C	chr17.hg19:g.74005355T>G	ENSP00000301607:p.Lys1311Gln		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	hg19	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.755797	0.31046	.	.	ENSG00000167880	ENST00000301607	T	0.56611	0.45	5.41	4.32	0.51571	.	0.092795	0.64402	D	0.000001	T	0.53384	0.1793	M	0.75777	2.31	0.37299	D	0.908594	P;B	0.39759	0.687;0.142	B;B	0.37731	0.257;0.048	T	0.63479	-0.6628	10	0.72032	D	0.01	-43.3057	12.5545	0.56246	0.0:0.0:0.1392:0.8608	.	1333;1311	B7ZLH8;Q92817	.;EVPL_HUMAN	Q	1311	ENSP00000301607:K1311Q	ENSP00000301607:K1311Q	K	-	1	0	EVPL	71516950	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	2.654000	0.46699	0.875000	0.35847	0.459000	0.35465	AAG		0.682	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		G	74005355	T	G	74005355	3	3	621	1	0	0	0	0	1	0	0	0	5294	1821	63	5	2174	5	EVPL	17	74005355	Missense_Mutation	SNP	T	TCGA-DW-7837-01A-11D-2136-08	32824834	74005355	7189855	34	33827											
GPR32	2854	hgsc.bcm.edu	37	19	51274070	51274070	+	Silent	SNP	T	T	C			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr19:51274070T>C	ENST00000270590.4	+	1	350	c.213T>C	c.(211-213)cgT>cgC	p.R71R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	71					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGTCTTCCGTATGGCACGCA	0.572																																					Esophageal Squamous(113;152 1581 5732 15840 44398)											0													225	169	188					19																	51274070		2203	4300	6503	SO:0001819	synonymous_variant	2854			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.213T>C	chr19.hg19:g.51274070T>C			Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	hg19	CCDS12801.1																																																																																				0.572	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			C	51274070	T	C	51274070	2	2	621	1	0	0	0	0	0	0	0	1	6690	1625	57	3		3	GPR32	19	51274070	Silent	SNP	T	TCGA-DW-7837-01A-11D-2136-08		51274070	7854913	35	33828											
NLRP5	126206	hgsc.bcm.edu	37	19	56539072	56539072	+	Silent	SNP	C	C	T			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr19:56539072C>T	ENST00000390649.3	+	7	1473	c.1473C>T	c.(1471-1473)gtC>gtT	p.V491V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	491	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGGAGAGCGTCGCCCCCTTCA	0.632																																																0													31	34	33					19																	56539072		2140	4237	6377	SO:0001819	synonymous_variant	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1473C>T	chr19.hg19:g.56539072C>T			A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	hg19	CCDS12938.1																																																																																				0.632	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		T	56539072	C	T	56539072	2	4	621	1	0	0	0	0	0	0	0	1	10482	871	31	1		1	NLRP5	19	56539072	Silent	SNP	C	TCGA-DW-7837-01A-11D-2136-08	5265002	56539072	2589911	36	33829											
TRPC4AP	26133	hgsc.bcm.edu	37	20	33591257	33591257	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr20:33591257G>T	ENST00000252015.2	-	18	2301	c.2212C>A	c.(2212-2214)Cag>Aag	p.Q738K	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.Q699K|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.Q730K|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.Q340K			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	738					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGGTAGTGCTGCTGCCAGAAG	0.632																																																0													59	59	59					20																	33591257		2203	4300	6503	SO:0001583	missense	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.2212C>A	chr20.hg19:g.33591257G>T	ENSP00000252015:p.Gln738Lys		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	hg19	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	6.251	0.414503	0.11870	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	4.65	4.65	0.58169	.	0.189321	0.48767	D	0.000179	T	0.51517	0.1679	L	0.36672	1.1	0.50632	D	0.999882	B;B;B	0.20164	0.042;0.042;0.042	B;B;B	0.16289	0.015;0.015;0.015	T	0.47586	-0.9106	9	0.12766	T	0.61	.	17.7234	0.88358	0.0:0.0:1.0:0.0	.	699;730;738	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	K	738;730;340;699;723	.	ENSP00000252015:Q738K	Q	-	1	0	TRPC4AP	33054918	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.652000	0.83633	2.398000	0.81561	0.462000	0.41574	CAG		0.632	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		T	33591257	G	T	33591257	3	4	621	1	0	0	0	0	1	0	0	0	16586	1328	46	4	189	4	TRPC4AP	20	33591257	Missense_Mutation	SNP	G	TCGA-DW-7837-01A-11D-2136-08		33591257	29434263	37	33830											
KCNQ2	3785	hgsc.bcm.edu	37	20	62078166	62078166	+	Silent	SNP	G	G	C			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chr20:62078166G>C	ENST00000359125.2	-	2	495	c.321C>G	c.(319-321)ctC>ctG	p.L107L	KCNQ2_ENST00000344462.4_Silent_p.L107L|RP11-358D14.2_ENST00000436263.1_RNA|KCNQ2_ENST00000359689.1_Silent_p.L107L|KCNQ2_ENST00000344425.5_Silent_p.L107L|KCNQ2_ENST00000354587.3_Silent_p.L107L|KCNQ2_ENST00000360480.3_Silent_p.L107L|KCNQ2_ENST00000357249.2_Silent_p.L107L|KCNQ2_ENST00000370224.1_Silent_p.L107L	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	107					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CAGACAGCACGAGGCAGGAGA	0.632																																																0													85	80	82					20																	62078166		2203	4300	6503	SO:0001819	synonymous_variant	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.321C>G	chr20.hg19:g.62078166G>C			O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	hg19	CCDS13520.1																																																																																				0.632	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		C	62078166	G	C	62078166	2	2	621	1	0	0	0	0	0	0	0	1	8085	1045	37	4		4	KCNQ2	20	62078166	Silent	SNP	G	TCGA-DW-7837-01A-11D-2136-08	28486909	62078166	947354	38	33831											
RPS6KA3	6197	hgsc.bcm.edu	37	X	20195138	20195138	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7837-01A-11D-2136-08	TCGA-DW-7837-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ec9b4fb0-c3b1-4a2b-a3e7-393b27f961da	5a082628-cf8e-4550-812a-28faf2a1735e	g.chrX:20195138T>C	ENST00000379565.3	-	11	1117	c.910A>G	c.(910-912)Aag>Gag	p.K304E	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.K276E|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.K276E|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.K275E	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	304	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GGATTTCGCTTGAAAAGCATT	0.318																																																0													60	62	61					X																	20195138		2203	4300	6503	SO:0001583	missense	6197			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.910A>G	chrX.hg19:g.20195138T>C	ENSP00000368884:p.Lys304Glu		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	hg19	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237629	0.58886	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	N	0.01817	-0.705	0.80722	D	1	B;B;P;B	0.52842	0.17;0.165;0.956;0.198	B;B;P;B	0.59546	0.134;0.034;0.859;0.084	T	0.55418	-0.8144	10	0.37606	T	0.19	.	14.8754	0.70491	0.0:0.0:0.0:1.0	.	276;275;276;304	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	E	304;276;275;276	ENSP00000368884:K304E;ENSP00000440220:K276E;ENSP00000368865:K275E;ENSP00000444837:K276E	ENSP00000368865:K275E	K	-	1	0	RPS6KA3	20105059	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.215000	0.72206	1.894000	0.54839	0.417000	0.27973	AAG		0.318	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		C	20195138	T	C	20195138	3	2	621	1	0	0	0	0	1	0	0	0	13658	1821	63	3	1360	3	RPS6KA3	23	20195138	Missense_Mutation	SNP	T	TCGA-DW-7837-01A-11D-2136-08		20195138	135075422	39	33832											
TRIM63	84676	hgsc.bcm.edu	37	1	26386776	26386776	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr1:26386776T>A	ENST00000374272.3	-	4	716	c.578A>T	c.(577-579)gAt>gTt	p.D193V	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	193	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCGACGGGAATCCTCCAGCTG	0.572																																																0													122	113	116					1																	26386776		2203	4300	6503	SO:0001583	missense	84676			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	16007	protein-coding gene	gene with protein product	"muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein"	606131	"ring finger protein 28", "tripartite motif-containing 63", "tripartite motif containing 63"	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.578A>T	chr1.hg19:g.26386776T>A	ENSP00000363390:p.Asp193Val		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	hg19	CCDS273.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528379	0.64860	.	.	ENSG00000158022	ENST00000374272	T	0.39787	1.06	5.21	5.21	0.72293	.	0.086183	0.85682	D	0.000000	T	0.50222	0.1603	M	0.68593	2.085	0.80722	D	1	B	0.32893	0.389	B	0.40741	0.339	T	0.55792	-0.8085	10	0.87932	D	0	.	15.0417	0.71796	0.0:0.0:0.0:1.0	.	193	Q969Q1	TRI63_HUMAN	V	193	ENSP00000363390:D193V	ENSP00000363390:D193V	D	-	2	0	TRIM63	26259363	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	5.828000	0.69307	2.081000	0.62600	0.379000	0.24179	GAT		0.572	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		A	26386776	T	A	26386776	3	1	622	1	0	0	0	0	1	0	0	0	16543	1435	50	5	507	5	TRIM63	1	26386776	Missense_Mutation	SNP	T	TCGA-DW-7838-01A-11D-2136-08		26386776	222863845	1	33833											
KIF2C	11004	hgsc.bcm.edu	37	1	45206651	45206651	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr1:45206651C>A	ENST00000372224.4	+	2	250	c.137C>A	c.(136-138)gCa>gAa	p.A46E	KIF2C_ENST00000372218.4_Missense_Mutation_p.A46E|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	46	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GTGGAATGGGCAGAAGGAGGT	0.413																																																0													106	102	103					1																	45206651		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.137C>A	chr1.hg19:g.45206651C>A	ENSP00000361298:p.Ala46Glu		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	hg19	CCDS512.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.708022	0.48412	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186	T;T;T;T	0.74947	1.14;-0.89;-0.72;0.9	5.95	0.825	0.18824	.	1.230180	0.05208	N	0.506277	T	0.64864	0.2637	L	0.43152	1.355	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.17098	0.017;0.017	T	0.55554	-0.8123	10	0.52906	T	0.07	.	2.3087	0.04181	0.1215:0.4871:0.1181:0.2733	.	46;46	B7Z6Q6;Q99661	.;KIF2C_HUMAN	E	46;46;46;37	ENSP00000410346:A46E;ENSP00000361298:A46E;ENSP00000361292:A46E;ENSP00000395050:A37E	ENSP00000361292:A46E	A	+	2	0	KIF2C	44979238	0.981000	0.34729	0.990000	0.47175	0.995000	0.86356	-0.030000	0.12308	-0.083000	0.12618	0.655000	0.94253	GCA		0.413	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		A	45206651	C	A	45206651	3	1	622	1	0	0	0	0	1	0	0	0	8301	710	25	4	143	4	KIF2C	1	45206651	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	18819875	45206651	204043970	2	33834											
TXNDC12	51060	hgsc.bcm.edu	37	1	52494277	52494277	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr1:52494277G>T	ENST00000371626.4	-	3	1258	c.184C>A	c.(184-186)Cat>Aat	p.H62N		NM_015913.3	NP_056997.1	O95881	TXD12_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	62					cell redox homeostasis (GO:0045454)	endoplasmic reticulum (GO:0005783)	protein-disulfide reductase (glutathione) activity (GO:0019153)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7					Glutathione(DB00143)	CAGGATTTATGAATAATCACC	0.299																																																0													86	85	85					1																	52494277		2203	4300	6503	SO:0001583	missense	51060			AF131758	CCDS561.1	1p32.3	2011-10-19			ENSG00000117862	ENSG00000117862		"Protein disulfide isomerases"	24626	protein-coding gene	gene with protein product	"endoplasmic reticulum thioredoxin superfamily member, 18 kDa", "anterior gradient homolog 1 (Xenopus laevis)", "protein disulfide isomerase family A, member 16"	609448				8619474, 9110174	Standard	NM_015913		Approved	TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16	uc001cti.4	O95881	OTTHUMG00000008629	ENST00000371626.4:c.184C>A	chr1.hg19:g.52494277G>T	ENSP00000360688:p.His62Asn		B3KQS0|Q5T1T4|Q96H50	Missense_Mutation	SNP	ENST00000371626.4	hg19	CCDS561.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570676	0.86542	.	.	ENSG00000117862	ENST00000371626	T	0.52754	0.65	5.6	5.6	0.85130	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.87269	2.87	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.76705	-0.2861	10	0.52906	T	0.07	.	17.7823	0.88527	0.0:0.0:1.0:0.0	.	62	O95881	TXD12_HUMAN	N	62	ENSP00000360688:H62N	ENSP00000360688:H62N	H	-	1	0	TXNDC12	52266865	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.150000	0.89634	2.622000	0.88805	0.655000	0.94253	CAT		0.299	TXNDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023818.1	NM_015913		T	52494277	G	T	52494277	3	4	622	1	0	0	0	0	1	0	0	0	16798	1290	45	4	354	4	TXNDC12	1	52494277	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08	7287626	52494277	196756344	3	33835											
WDR47	22911	hgsc.bcm.edu	37	1	109554105	109554105	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr1:109554105delT	ENST00000369962.3	-	5	785	c.563delA	c.(562-564)aagfs	p.K188fs	WDR47_ENST00000369965.4_Frame_Shift_Del_p.K188fs|WDR47_ENST00000357672.3_Frame_Shift_Del_p.K160fs|WDR47_ENST00000361054.3_Frame_Shift_Del_p.K160fs|WDR47_ENST00000400794.3_Frame_Shift_Del_p.K195fs			O94967	WDR47_HUMAN	WD repeat domain 47	188					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GTTACTAGCCTTAAAACCAGC	0.413																																																0													206	212	210					1																	109554105		2203	4296	6499	SO:0001589	frameshift_variant	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.563delA	chr1.hg19:g.109554105delT	ENSP00000358979:p.Lys188fs		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Frame_Shift_Del	DEL	ENST00000369962.3	hg19	CCDS44187.1																																																																																				0.413	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		-	109554105	T	-	109554105	7	5	622	1	0	1	0	1	0	0	0	0	17305	1609	56	0	2243	0	WDR47	1	109554105	Frame_Shift_Del	DEL	T	TCGA-DW-7838-01A-11D-2136-08	57059828	109554105	139696516	4	33836											
ANKRD35	148741	hgsc.bcm.edu	37	1	145561665	145561665	+	Silent	SNP	C	C	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr1:145561665C>T	ENST00000355594.4	+	10	1440	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	451										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGCACAGACCTTTGGCCCTG	0.587																																					Melanoma(9;127 754 22988 51047)											0													59	67	64					1																	145561665		2203	4300	6503	SO:0001819	synonymous_variant	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1353C>T	chr1.hg19:g.145561665C>T			A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	hg19	CCDS919.1																																																																																				0.587	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		T	145561665	C	T	145561665	2	4	622	1	0	0	0	0	0	0	0	1	664	668	24	2		2	ANKRD35	1	145561665	Silent	SNP	C	TCGA-DW-7838-01A-11D-2136-08	36007560	145561665	103688956	5	33837											
FLAD1	80308	hgsc.bcm.edu	37	1	154961016	154961016	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr1:154961016G>A	ENST00000292180.3	+	2	1130	c.808G>A	c.(808-810)Gga>Aga	p.G270R	FLAD1_ENST00000368432.1_Missense_Mutation_p.G173R|FLAD1_ENST00000368433.1_Missense_Mutation_p.G270R|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000295530.2_Missense_Mutation_p.G3R|FLAD1_ENST00000405236.2_Missense_Mutation_p.G171R|FLAD1_ENST00000368431.3_Missense_Mutation_p.G171R|FLAD1_ENST00000315144.10_Missense_Mutation_p.G173R	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	270					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGATGAAGGGACTATTCCA	0.572																																																0													43	41	42					1																	154961016		2203	4300	6503	SO:0001583	missense	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.808G>A	chr1.hg19:g.154961016G>A	ENSP00000292180:p.Gly270Arg		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	hg19	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391696	0.25118	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236;ENST00000295530	.	.	.	5.51	1.43	0.22495	Molybdopterin binding (2);	0.470755	0.24384	N	0.038987	T	0.05777	0.0151	N	0.25890	0.77	0.09310	N	1	P;B;P	0.45474	0.859;0.05;0.491	B;B;B	0.37304	0.246;0.124;0.076	T	0.32188	-0.9916	9	0.21014	T	0.42	-1.0E-4	6.7182	0.23314	0.2278:0.3684:0.4038:0.0	.	3;270;171	Q5T191;Q8NFF5;Q8NFF5-4	.;FAD1_HUMAN;.	R	270;173;173;171;270;171;3	.	ENSP00000292180:G270R	G	+	1	0	FLAD1	153227640	0.089000	0.21612	0.069000	0.20011	0.879000	0.50718	1.889000	0.39718	0.419000	0.25927	0.561000	0.74099	GGA		0.572	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		A	154961016	G	A	154961016	3	1	622	1	0	0	0	0	1	0	0	0	5922	1233	43	2	889	2	FLAD1	1	154961016	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08	9399351	154961016	94289605	6	33838											
LOXL3	84695	hgsc.bcm.edu	37	2	74761483	74761483	+	Silent	SNP	G	G	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr2:74761483G>A	ENST00000264094.3	-	11	1970	c.1899C>T	c.(1897-1899)caC>caT	p.H633H	LOXL3_ENST00000393937.2_Silent_p.H488H|LOXL3_ENST00000409986.1_Silent_p.H488H|LOXL3_ENST00000409549.1_Silent_p.H577H|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	633	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AACTAGCTTTGTGGCCCTCAG	0.502																																																0													190	183	185					2																	74761483		2203	4300	6503	SO:0001819	synonymous_variant	84695			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1899C>T	chr2.hg19:g.74761483G>A			D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	hg19	CCDS1953.1																																																																																				0.502	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		A	74761483	G	A	74761483	2	1	622	1	0	0	0	0	0	0	0	1	8903	1368	48	2		2	LOXL3	2	74761483	Silent	SNP	G	TCGA-DW-7838-01A-11D-2136-08		74761483	168437890	7	33839											
TUBA3D	113457	hgsc.bcm.edu	37	2	132236969	132236969	+	Silent	SNP	G	G	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr2:132236969G>A	ENST00000321253.6	+	3	422	c.315G>A	c.(313-315)agG>agA	p.R105R	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	105					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ATTACGCCAGGGGCCATTACA	0.527																																					Ovarian(137;2059 2432 35543 39401)											0													209	172	184					2																	132236969		2203	4300	6503	SO:0001819	synonymous_variant	113457			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.315G>A	chr2.hg19:g.132236969G>A			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	hg19	CCDS33290.1																																																																																				0.527	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		A	132236969	G	A	132236969	2	1	622	1	0	0	0	0	0	0	0	1	16752	1223	43	2		2	TUBA3D	2	132236969	Silent	SNP	G	TCGA-DW-7838-01A-11D-2136-08	57475486	132236969	110962404	8	33840											
FIGN	55137	hgsc.bcm.edu	37	2	164466515	164466515	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr2:164466515A>T	ENST00000333129.3	-	3	2141	c.1827T>A	c.(1825-1827)ttT>ttA	p.F609L	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	609					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GTTGCATCAGAAATTCGGTTC	0.458																																																0													105	99	101					2																	164466515		1948	4151	6099	SO:0001583	missense	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1827T>A	chr2.hg19:g.164466515A>T	ENSP00000333836:p.Phe609Leu		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	hg19	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023844	0.35701	.	.	ENSG00000182263	ENST00000333129	D	0.86865	-2.18	5.47	2.81	0.32909	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.055714	0.64402	D	0.000001	T	0.74504	0.3725	N	0.00771	-1.2	0.58432	D	0.999996	B	0.32324	0.364	P	0.51999	0.687	T	0.66767	-0.5840	10	0.21014	T	0.42	-19.2916	5.9791	0.19397	0.6913:0.0:0.3087:0.0	.	609	Q5HY92	FIGN_HUMAN	L	609	ENSP00000333836:F609L	ENSP00000333836:F609L	F	-	3	2	FIGN	164174761	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.691000	0.37721	1.009000	0.39289	0.383000	0.25322	TTT		0.458	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		T	164466515	A	T	164466515	3	4	622	1	0	0	0	0	1	0	0	0	5893	243	9	5	456	5	FIGN	2	164466515	Missense_Mutation	SNP	A	TCGA-DW-7838-01A-11D-2136-08	32229546	164466515	78732858	9	33841											
TTN	7273	hgsc.bcm.edu	37	2	179650403	179650403	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr2:179650403T>A	ENST00000591111.1	-	15	2661	c.2437A>T	c.(2437-2439)Agc>Tgc	p.S813C	TTN_ENST00000359218.5_Missense_Mutation_p.S767C|TTN_ENST00000360870.5_Missense_Mutation_p.S813C|TTN_ENST00000460472.2_Missense_Mutation_p.S767C|TTN_ENST00000589042.1_Missense_Mutation_p.S813C|TTN_ENST00000342175.6_Missense_Mutation_p.S767C|TTN_ENST00000342992.6_Missense_Mutation_p.S813C			Q8WZ42	TITIN_HUMAN	titin	33644					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)			AAGTGAGGGCTAGCTGTGCGG	0.373																																																0													172	167	169					2																	179650403		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2437A>T	chr2.hg19:g.179650403T>A	ENSP00000465570:p.Ser813Cys		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	T	12.88	2.071468	0.36566	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67523	-0.27;-0.03;-0.03;-0.04;0.15	5.51	5.51	0.81932	Ribonuclease H-like (1);	.	.	.	.	T	0.70159	0.3192	L	0.27053	0.805	0.24564	N	0.993953	D;D;D;D;D	0.89917	0.993;0.993;0.993;0.993;1.0	P;P;P;P;D	0.69479	0.628;0.628;0.628;0.628;0.964	T	0.62699	-0.6799	9	0.87932	D	0	.	10.3027	0.43661	0.0:0.0737:0.0:0.9263	.	767;767;767;813;813	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	813;767;767;767;767;813	ENSP00000343764:S813C;ENSP00000434586:S767C;ENSP00000340554:S767C;ENSP00000352154:S767C;ENSP00000354117:S813C	ENSP00000340554:S767C	S	-	1	0	TTN	179358648	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	2.566000	0.45948	2.210000	0.71456	0.533000	0.62120	AGC		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179650403	T	A	179650403	3	1	622	1	0	0	0	0	1	0	0	0	16740	1522	53	5	108943	5	TTN	2	179650403	Missense_Mutation	SNP	T	TCGA-DW-7838-01A-11D-2136-08	15183888	179650403	63548970	10	33842											
COL6A3	1293	hgsc.bcm.edu	37	2	238303376	238303376	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr2:238303376A>G	ENST00000295550.4	-	3	1015	c.563T>C	c.(562-564)aTa>aCa	p.I188T	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.I188T|COL6A3_ENST00000346358.4_Missense_Mutation_p.I188T|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	188	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCACTTGCTATTTCTTTTAA	0.433																																																0													127	124	125					2																	238303376		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.563T>C	chr2.hg19:g.238303376A>G	ENSP00000295550:p.Ile188Thr		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	6.536	0.467096	0.12402	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	4.9	3.72	0.42706	von Willebrand factor, type A (3);	0.267710	0.25584	U	0.029678	D	0.88437	0.6436	H	0.94886	3.595	0.47778	D	0.999513	B;B	0.19445	0.009;0.036	B;B	0.20767	0.021;0.031	D	0.85506	0.1194	10	0.62326	D	0.03	.	10.6923	0.45877	0.9233:0.0:0.0766:0.0	.	188;188	E9PCV6;P12111	.;CO6A3_HUMAN	T	188	ENSP00000295550:I188T;ENSP00000315609:I188T;ENSP00000295546:I188T;ENSP00000389539:I188T	ENSP00000295550:I188T	I	-	2	0	COL6A3	237968115	1.000000	0.71417	0.997000	0.53966	0.219000	0.24729	6.121000	0.71602	0.699000	0.31761	0.374000	0.22700	ATA		0.433	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		G	238303376	A	G	238303376	3	3	622	1	0	0	0	0	1	0	0	0	3703	449	16	3	9185	3	COL6A3	2	238303376	Missense_Mutation	SNP	A	TCGA-DW-7838-01A-11D-2136-08	58652973	238303376	4895997	11	33843											
RNPEPL1	57140	hgsc.bcm.edu	37	2	241516157	241516157	+	Silent	SNP	C	C	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr2:241516157C>T	ENST00000270357.4	+	9	1616	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	341					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TGGACCGGCTCCTGGATGGGT	0.687																																																0													29	33	32					2																	241516157		2196	4289	6485	SO:0001819	synonymous_variant	57140					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1023C>T	chr2.hg19:g.241516157C>T			Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Silent	SNP	ENST00000270357.4	hg19																																																																																					0.687	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		T	241516157	C	T	241516157	2	4	622	1	0	0	0	0	0	0	0	1	13516	842	30	2		2	RNPEPL1	2	241516157	Silent	SNP	C	TCGA-DW-7838-01A-11D-2136-08	3212781	241516157	1683216	12	33844											
SCAP	22937	hgsc.bcm.edu	37	3	47456625	47456625	+	Silent	SNP	C	C	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr3:47456625C>T	ENST00000265565.5	-	19	3514	c.3102G>A	c.(3100-3102)ttG>ttA	p.L1034L	SCAP_ENST00000441517.2_Silent_p.L778L|SCAP_ENST00000545718.1_Silent_p.L641L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1034	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGTGGGTCTCCAAGGAGAAGA	0.632																																					Pancreas(149;978 1908 29304 37806 46700)											0													51	53	52					3																	47456625		2202	4299	6501	SO:0001819	synonymous_variant	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3102G>A	chr3.hg19:g.47456625C>T			Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	hg19	CCDS2755.2																																																																																				0.632	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		T	47456625	C	T	47456625	2	4	622	1	0	0	0	0	0	0	0	1	13883	593	21	2		2	SCAP	3	47456625	Silent	SNP	C	TCGA-DW-7838-01A-11D-2136-08		47456625	150565805	13	33845											
C3orf18	51161	hgsc.bcm.edu	37	3	50602964	50602964	+	Missense_Mutation	SNP	G	G	A	rs559763162		TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr3:50602964G>A	ENST00000357203.3	-	3	706	c.167C>T	c.(166-168)aCg>aTg	p.T56M	C3orf18_ENST00000441239.1_Missense_Mutation_p.T56M|C3orf18_ENST00000449241.1_Missense_Mutation_p.T56M|C3orf18_ENST00000486175.1_Intron|C3orf18_ENST00000426034.1_Missense_Mutation_p.T56M	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	56						integral component of membrane (GO:0016021)				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		CACGCCGGCCGTGCCACCAGC	0.607																																																0													88	76	80					3																	50602964		2202	4300	6502	SO:0001583	missense	51161			AF188706	CCDS2829.1, CCDS54589.1	3p21.3	2006-01-11			ENSG00000088543	ENSG00000088543			24837	protein-coding gene	gene with protein product						12477932	Standard	NM_016210		Approved	G20	uc010hlp.3	Q9UK00	OTTHUMG00000156854	ENST00000357203.3:c.167C>T	chr3.hg19:g.50602964G>A	ENSP00000349732:p.Thr56Met		C9JNP0	Missense_Mutation	SNP	ENST00000357203.3	hg19	CCDS2829.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495028	0.26774	.	.	ENSG00000088543	ENST00000426034;ENST00000357203;ENST00000449241;ENST00000441239	T;T;T;T	0.42513	2.52;2.52;2.52;0.97	5.24	3.36	0.38483	.	0.821587	0.11279	N	0.580514	T	0.24851	0.0603	N	0.19112	0.55	0.21105	N	0.999781	P;P	0.52577	0.89;0.954	B;B	0.37780	0.258;0.251	T	0.05920	-1.0856	10	0.52906	T	0.07	-12.7022	7.5988	0.28065	0.0:0.3237:0.5385:0.1378	.	56;56	C9JNP0;Q9UK00	.;CC018_HUMAN	M	56	ENSP00000387606:T56M;ENSP00000349732:T56M;ENSP00000404913:T56M;ENSP00000414124:T56M	ENSP00000349732:T56M	T	-	2	0	C3orf18	50577968	0.019000	0.18553	0.001000	0.08648	0.388000	0.30384	2.265000	0.43311	1.193000	0.43086	0.462000	0.41574	ACG		0.607	C3orf18-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346260.2	NM_016210		A	50602964	G	A	50602964	3	1	622	1	0	0	0	0	1	0	0	0	2213	1145	40	1	337	1	C3orf18	3	50602964	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08	3146339	50602964	147419466	14	33846											
BBX	56987	hgsc.bcm.edu	37	3	107491690	107491690	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr3:107491690G>C	ENST00000325805.8	+	11	1409	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	BBX_ENST00000406780.1_Missense_Mutation_p.E374D|BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.E374D|BBX_ENST00000415149.2_Missense_Mutation_p.E374D			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	374					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAATTTTGAGGCATTGCAAA	0.323																																																0													58	68	64					3																	107491690		2203	4298	6501	SO:0001583	missense	56987			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1122G>C	chr3.hg19:g.107491690G>C	ENSP00000319974:p.Glu374Asp		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	hg19	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	4.952	0.176823	0.09443	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000402163;ENST00000406780	D;D;D;D;D	0.98747	-4.6;-4.6;-4.61;-5.11;-4.6	6.16	-0.709	0.11237	.	0.342008	0.33253	N	0.005119	D	0.94486	0.8225	N	0.24115	0.695	0.28521	N	0.91307	B;B;B	0.18461	0.012;0.028;0.009	B;B;B	0.14023	0.004;0.01;0.009	D	0.88666	0.3192	10	0.45353	T	0.12	-10.7263	7.4111	0.27017	0.5975:0.0:0.282:0.1205	.	374;374;374	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	D	374;225;374;374;374;374	ENSP00000408358:E374D;ENSP00000385317:E374D;ENSP00000319974:E374D;ENSP00000385518:E374D;ENSP00000385530:E374D	ENSP00000319742:E225D	E	+	3	2	BBX	108974380	0.991000	0.36638	0.873000	0.34254	0.130000	0.20726	0.223000	0.17719	-0.449000	0.07117	-1.871000	0.00553	GAG		0.323	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		C	107491690	G	C	107491690	3	2	622	1	0	0	0	0	1	0	0	0	1343	991	35	4	1152	4	BBX	3	107491690	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08	56888726	107491690	90530740	15	33847											
EHHADH	1962	hgsc.bcm.edu	37	3	184922367	184922367	+	Silent	SNP	G	G	A	rs149294851		TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr3:184922367G>A	ENST00000231887.3	-	6	822	c.747C>T	c.(745-747)atC>atT	p.I249I	EHHADH_ENST00000456310.1_Silent_p.I153I	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	249	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CCTCCTTCTTGATGCCCACTT	0.517																																																0													131	128	129					3																	184922367		2203	4300	6503	SO:0001819	synonymous_variant	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.747C>T	chr3.hg19:g.184922367G>A			A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	ENST00000231887.3	hg19	CCDS33901.1																																																																																				0.517	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			A	184922367	G	A	184922367	2	1	622	1	0	0	0	0	0	0	0	1	4984	1280	45	2		2	EHHADH	3	184922367	Silent	SNP	G	TCGA-DW-7838-01A-11D-2136-08	77430677	184922367	13100063	16	33848											
MFSD10	10227	hgsc.bcm.edu	37	4	2934901	2934901	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr4:2934901G>C	ENST00000329687.4	-	3	838	c.304C>G	c.(304-306)Ctg>Gtg	p.L102V	MFSD10_ENST00000514800.1_Missense_Mutation_p.L102V|MFSD10_ENST00000355443.4_Missense_Mutation_p.L102V|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000508221.1_Missense_Mutation_p.L102V|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|MFSD10_ENST00000507555.1_Missense_Mutation_p.L102V	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	102					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCGCACACAGAAACTGCAGG	0.617																																																0													53	53	53					4																	2934901		2202	4299	6501	SO:0001583	missense	10227			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.304C>G	chr4.hg19:g.2934901G>C	ENSP00000332646:p.Leu102Val		Q07706	Missense_Mutation	SNP	ENST00000329687.4	hg19	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	G	5.826	0.336718	0.11013	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	4.19	-0.214	0.13161	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.370891	0.28062	N	0.016760	T	0.33585	0.0868	L	0.45422	1.42	0.20307	N	0.999916	B;B;B;B	0.23735	0.012;0.022;0.09;0.007	B;B;B;B	0.29267	0.042;0.078;0.1;0.032	T	0.09796	-1.0658	10	0.14656	T	0.56	-10.5579	0.8156	0.01102	0.2667:0.3381:0.2238:0.1713	.	102;102;102;102	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	V	102	ENSP00000426907:L102V;ENSP00000347619:L102V;ENSP00000332646:L102V;ENSP00000425757:L102V;ENSP00000423402:L102V	ENSP00000332646:L102V	L	-	1	2	MFSD10	2904699	0.985000	0.35326	0.153000	0.22517	0.211000	0.24417	0.178000	0.16820	0.045000	0.15804	0.561000	0.74099	CTG		0.617	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		C	2934901	G	C	2934901	3	2	622	1	0	0	0	0	1	0	0	0	9530	933	33	4	1103	4	MFSD10	4	2934901	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08		2934901	188219375	17	33849											
JAKMIP1	152789	hgsc.bcm.edu	37	4	6066676	6066676	+	Silent	SNP	C	C	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr4:6066676C>T	ENST00000282924.5	-	9	1847	c.1362G>A	c.(1360-1362)ttG>ttA	p.L454L	JAKMIP1_ENST00000409371.3_Silent_p.L269L|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Silent_p.L454L|JAKMIP1_ENST00000410077.2_Silent_p.L289L|JAKMIP1_ENST00000409021.3_Silent_p.L454L	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	454	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGTTTCGGACAACGTTTCTG	0.488																																																0													192	163	173					4																	6066676		2203	4300	6503	SO:0001819	synonymous_variant	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1362G>A	chr4.hg19:g.6066676C>T			A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	hg19	CCDS3385.1																																																																																				0.488	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		T	6066676	C	T	6066676	2	4	622	1	0	0	0	0	0	0	0	1	7942	477	17	2		2	JAKMIP1	4	6066676	Silent	SNP	C	TCGA-DW-7838-01A-11D-2136-08	3131775	6066676	185087600	18	33850											
BOD1L	259282	hgsc.bcm.edu	37	4	13601157	13601157	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr4:13601157A>G	ENST00000040738.5	-	10	7502	c.7367T>C	c.(7366-7368)cTc>cCc	p.L2456P		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2456						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGCATTTATGAGGTGTAAAGT	0.468											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													164	147	153					4																	13601157		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7367T>C	chr4.hg19:g.13601157A>G	ENSP00000040738:p.Leu2456Pro	688	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	hg19	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120234	0.37436	.	.	ENSG00000038219	ENST00000040738	T	0.09350	2.99	4.17	-0.642	0.11486	.	0.433636	0.16546	N	0.209707	T	0.06781	0.0173	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.30937	-0.9961	10	0.40728	T	0.16	.	8.0002	0.30293	0.597:0.0:0.403:0.0	.	2456	Q8NFC6	BOD1L_HUMAN	P	2456	ENSP00000040738:L2456P	ENSP00000040738:L2456P	L	-	2	0	BOD1L	13210255	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.222000	0.17699	-0.013000	0.14199	0.454000	0.30748	CTC		0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		G	13601157	A	G	13601157	3	3	622	1	0	0	0	0	1	0	0	0	1483	304	11	3	1856	3	BOD1L	4	13601157	Missense_Mutation	SNP	A	TCGA-DW-7838-01A-11D-2136-08	7534481	13601157	177553119	19	33851											
GPR98	84059	hgsc.bcm.edu	37	5	89953910	89953915	+	In_Frame_Del	DEL	AAATCA	AAATCA	-			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	AAATCA	AAATCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr5:89953910_89953915delAAATCA	ENST00000405460.2	+	21	4663_4668	c.4567_4572delAAATCA	c.(4567-4572)aaatcadel	p.KS1523del		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1523	Calx-beta 10. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAACTAACAAATCATTCATTATTT	0.374																																																0																																										SO:0001651	inframe_deletion	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4567_4572delAAATCA	chr5.hg19:g.89953910_89953915delAAATCA	ENSP00000384582:p.Lys1523_Ser1524del		O75171|Q8TF58|Q9H0X5|Q9UL61	In_Frame_Del	DEL	ENST00000405460.2	hg19	CCDS47246.1																																																																																				0.374	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		-	89953915	AAATCA	-	89953910	7	5	622	1	0	1	0	1	0	0	0	0	6723	131	5	0	4649	0	GPR98	5	89953910	In_Frame_Del	DEL	AAATCA	TCGA-DW-7838-01A-11D-2136-08		89953910	90961350	20	33852											
C5orf36	285600	hgsc.bcm.edu	37	5	93856481	93856481	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr5:93856481A>C	ENST00000329378.7	-	5	691	c.442T>G	c.(442-444)Tct>Gct	p.S148A	KIAA0825_ENST00000427991.2_Missense_Mutation_p.S148A|KIAA0825_ENST00000513200.3_Missense_Mutation_p.S148A|KIAA0825_ENST00000312498.7_Missense_Mutation_p.S148A	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	148										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TCTTCAACAGAATGAAGAGAC	0.418																																																0													68	68	68					5																	93856481		2203	4299	6502	SO:0001583	missense	285600			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.442T>G	chr5.hg19:g.93856481A>C	ENSP00000331385:p.Ser148Ala		O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	hg19	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.938185	0.00484	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;T;T	0.38077	1.18;1.18;1.16;1.18	5.27	4.16	0.48862	.	1.670800	0.02660	N	0.107410	T	0.19644	0.0472	N	0.11560	0.145	0.21445	N	0.999683	B;B	0.11235	0.001;0.004	B;B	0.08055	0.002;0.003	T	0.37197	-0.9716	10	0.05436	T	0.98	.	6.5441	0.22397	0.4544:0.4284:0.0:0.1172	.	148;148	Q8IV33;Q8IV33-2	K0825_HUMAN;.	A	148	ENSP00000424618:S148A;ENSP00000400288:S148A;ENSP00000312205:S148A;ENSP00000331385:S148A	ENSP00000312205:S148A	S	-	1	0	KIAA0825	93882237	1.000000	0.71417	0.939000	0.37840	0.025000	0.11179	2.208000	0.42797	1.984000	0.57885	0.477000	0.44152	TCT		0.418	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665		C	93856481	A	C	93856481	3	2	622	1	0	0	0	0	1	0	0	0	2297	246	9	5	3458	5	C5orf36	5	93856481	Missense_Mutation	SNP	A	TCGA-DW-7838-01A-11D-2136-08	3902571	93856481	87058779	21	33853											
HSD17B4	3295	hgsc.bcm.edu	37	5	118824931	118824931	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr5:118824931C>T	ENST00000256216.6	+	9	800	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F	HSD17B4_ENST00000504811.1_Missense_Mutation_p.L248F|HSD17B4_ENST00000515320.1_Missense_Mutation_p.L205F|HSD17B4_ENST00000414835.2_Missense_Mutation_p.L83F|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000513628.1_Missense_Mutation_p.L86F|HSD17B4_ENST00000510025.1_Missense_Mutation_p.L199F	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	223	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		ACCTCTTGTCCTTTGGCTTTG	0.378																																					Colon(35;490 801 34689 41394 43344)											0													221	214	217					5																	118824931		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.667C>T	chr5.hg19:g.118824931C>T	ENSP00000256216:p.Leu223Phe		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	hg19	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490542	0.64074	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	5.97	5.97	0.96955	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95262	0.8463	M	0.87381	2.88	0.80722	D	1	D;P;P;P	0.71674	0.998;0.891;0.746;0.891	D;B;B;B	0.71414	0.973;0.266;0.266;0.194	D	0.94345	0.7574	10	0.39692	T	0.17	-19.2226	13.265	0.60128	0.0:0.9271:0.0:0.0729	.	248;205;199;223	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	F	223;205;199;248;83;86	ENSP00000256216:L223F;ENSP00000424613:L205F;ENSP00000424940:L199F;ENSP00000420914:L248F;ENSP00000411960:L83F;ENSP00000425993:L86F	ENSP00000256216:L223F	L	+	1	0	HSD17B4	118852830	0.999000	0.42202	1.000000	0.80357	0.393000	0.30537	3.986000	0.56937	2.834000	0.97654	0.650000	0.86243	CTT		0.378	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		T	118824931	C	T	118824931	3	4	622	1	0	0	0	0	1	0	0	0	7388	681	24	2	701	2	HSD17B4	5	118824931	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	24968450	118824931	62090329	22	33854											
ZNF608	57507	hgsc.bcm.edu	37	5	123980011	123980011	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr5:123980011G>A	ENST00000306315.5	-	5	4484	c.4049C>T	c.(4048-4050)cCt>cTt	p.P1350L	ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Missense_Mutation_p.P923L	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1350							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGTGGGTAAGGATAAGCATG	0.502																																																0													216	161	179					5																	123980011		2203	4300	6503	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.4049C>T	chr5.hg19:g.123980011G>A	ENSP00000307746:p.Pro1350Leu		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	hg19	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704307	0.88924	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.50813	0.78;0.73	5.55	5.55	0.83447	.	0.063529	0.64402	D	0.000002	T	0.68961	0.3058	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.70439	-0.4871	10	0.87932	D	0	-13.536	19.8645	0.96799	0.0:0.0:1.0:0.0	.	1350	Q9ULD9	ZN608_HUMAN	L	923;1350	ENSP00000427657:P923L;ENSP00000307746:P1350L	ENSP00000307746:P1350L	P	-	2	0	ZNF608	124007910	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.896000	0.87350	2.766000	0.95052	0.643000	0.83706	CCT		0.502	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		A	123980011	G	A	123980011	3	1	622	1	0	0	0	0	1	0	0	0	18039	1000	35	2	509	2	ZNF608	5	123980011	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08	5155080	123980011	56935249	23	33855											
GPR116	221395	hgsc.bcm.edu	37	6	46867766	46867766	+	Splice_Site	SNP	C	C	A	rs145334563	byFrequency	TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr6:46867766C>A	ENST00000283296.7	-	3	445	c.157G>T	c.(157-159)Gtt>Ttt	p.V53F	GPR116_ENST00000362015.4_Splice_Site_p.V53F|GPR116_ENST00000265417.7_Splice_Site_p.V53F|GPR116_ENST00000456426.2_Splice_Site_p.V53F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	53					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTTTACATACCGGCTCGTTTT	0.383																																					NSCLC(59;410 1274 8751 36715 50546)											0													109	98	102					6																	46867766		2203	4300	6503	SO:0001630	splice_region_variant	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.157+1G>T	chr6.hg19:g.46867766C>A			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	hg19	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464871	0.43839	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.29655	1.62;2.0;1.56;1.62	4.96	4.96	0.65561	.	0.286307	0.24695	N	0.036356	T	0.36082	0.0954	M	0.64997	1.995	0.80722	D	1	P;P;P	0.52842	0.956;0.911;0.956	P;P;P	0.56474	0.632;0.799;0.632	T	0.05468	-1.0883	9	.	.	.	-3.8272	14.057	0.64776	0.0:1.0:0.0:0.0	.	53;53;53	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	F	53	ENSP00000283296:V53F;ENSP00000354563:V53F;ENSP00000412866:V53F;ENSP00000265417:V53F	.	V	-	1	0	GPR116	46975725	0.983000	0.35010	0.886000	0.34754	0.036000	0.12997	3.364000	0.52328	2.479000	0.83701	0.462000	0.41574	GTT		0.383	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	Missense_Mutation	A	46867766	C	A	46867766	5	1	622	1	0	0	0	0	0	0	1	0	6635	666	23	4	3959	4	GPR116	6	46867766	Splice_Site	SNP	C	TCGA-DW-7838-01A-11D-2136-08		46867766	124247301	24	33856											
COL9A1	1297	hgsc.bcm.edu	37	6	70944522	70944522	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr6:70944522C>A	ENST00000357250.6	-	34	2392	c.2234G>T	c.(2233-2235)gGc>gTc	p.G745V	RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G502V|COL9A1_ENST00000320755.7_Missense_Mutation_p.G502V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	745	Collagen-like 8.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCAGGCAGGCCGGTGGCACC	0.647																																																0													36	38	37					6																	70944522		2203	4300	6503	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2234G>T	chr6.hg19:g.70944522C>A	ENSP00000349790:p.Gly745Val		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	hg19	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911377	0.72983	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	5.74	5.74	0.90152	.	0.149132	0.64402	D	0.000011	D	0.99846	0.9929	H	0.97758	4.07	0.80722	D	1	D;D;P	0.76494	0.999;0.996;0.918	D;D;P	0.75484	0.986;0.941;0.806	D	0.96911	0.9667	10	0.87932	D	0	.	19.9077	0.97014	0.0:1.0:0.0:0.0	.	745;502;294	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	V	745;502;502	ENSP00000349790:G745V;ENSP00000315252:G502V;ENSP00000359530:G502V	ENSP00000315252:G502V	G	-	2	0	COL9A1	71001243	1.000000	0.71417	0.988000	0.46212	0.907000	0.53573	7.556000	0.82233	2.714000	0.92807	0.585000	0.79938	GGC		0.647	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			A	70944522	C	A	70944522	3	1	622	1	0	0	0	0	1	0	0	0	3709	739	26	4	551	4	COL9A1	6	70944522	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	24076756	70944522	100170545	25	33857											
PMS2	5395	hgsc.bcm.edu	37	7	6035170	6035170	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr7:6035170C>T	ENST00000265849.7	-	8	1003	c.898G>A	c.(898-900)Gca>Aca	p.A300T	PMS2_ENST00000441476.2_Missense_Mutation_p.A194T|PMS2_ENST00000406569.3_Missense_Mutation_p.A300T|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	300					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AATACCTTTGCTGGGTCACAA	0.383			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													89	84	86					7																	6035170		2203	4300	6503	SO:0001583	missense	5395	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		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.898G>A	chr7.hg19:g.6035170C>T	ENSP00000265849:p.Ala300Thr		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	hg19	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	c	15.72	2.917497	0.52546	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.83992	-1.79;-1.79;-1.79	5.85	4.96	0.65561	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.410133	0.26345	N	0.024920	T	0.73969	0.3655	L	0.49350	1.555	0.42490	D	0.992891	B;B;B	0.34241	0.012;0.068;0.444	B;B;B	0.27262	0.007;0.013;0.078	T	0.69367	-0.5164	10	0.14656	T	0.56	-8.6094	10.6468	0.45626	0.1337:0.7984:0.0:0.0678	.	300;300;194	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	T	300;253;194;300	ENSP00000265849:A300T;ENSP00000392843:A194T;ENSP00000384308:A300T	ENSP00000265849:A300T	A	-	1	0	PMS2	6001696	0.544000	0.26441	1.000000	0.80357	0.989000	0.77384	0.265000	0.18515	1.469000	0.48083	0.650000	0.86243	GCA		0.383	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		T	6035170	C	T	6035170	3	4	622	1	0	0	0	0	1	0	0	0	12145	797	28	2	1722	2	PMS2	7	6035170	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08		6035170	153103493	26	33858											
POU6F2	11281	hgsc.bcm.edu	37	7	39446255	39446255	+	Silent	SNP	C	C	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr7:39446255C>T	ENST00000403058.1	+	7	1096	c.942C>T	c.(940-942)tcC>tcT	p.S314S	POU6F2_ENST00000559001.1_Intron|POU6F2_ENST00000518318.2_Silent_p.S314S|POU6F2-AS1_ENST00000433519.1_RNA	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	314	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCATGAGCTCCATAGCAAGCT	0.532																																																0													57	57	57					7																	39446255		2203	4300	6503	SO:0001819	synonymous_variant	11281			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.942C>T	chr7.hg19:g.39446255C>T			A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	hg19	CCDS34620.2																																																																																				0.532	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		T	39446255	C	T	39446255	2	4	622	1	0	0	0	0	0	0	0	1	12287	581	21	2		2	POU6F2	7	39446255	Silent	SNP	C	TCGA-DW-7838-01A-11D-2136-08	33411085	39446255	119692408	27	33859											
ZMIZ2	83637	hgsc.bcm.edu	37	7	44805818	44805818	+	Silent	SNP	C	C	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr7:44805818C>G	ENST00000309315.4	+	17	2421	c.2298C>G	c.(2296-2298)ccC>ccG	p.P766P	ZMIZ2_ENST00000413916.1_Silent_p.P708P|ZMIZ2_ENST00000433667.1_Silent_p.P734P|ZMIZ2_ENST00000265346.7_Silent_p.P740P|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Silent_p.P766P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	766	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCACCACGCCCAGCACCCCAA	0.632																																					NSCLC(20;604 852 1948 16908 50522)											0													58	66	64					7																	44805818		1960	4127	6087	SO:0001819	synonymous_variant	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2298C>G	chr7.hg19:g.44805818C>G			A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	hg19	CCDS43576.1																																																																																				0.632	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		G	44805818	C	G	44805818	2	3	622	1	0	0	0	0	0	0	0	1	17702	581	21	4		4	ZMIZ2	7	44805818	Silent	SNP	C	TCGA-DW-7838-01A-11D-2136-08	5359563	44805818	114332845	28	33860											
DMTF1	9988	hgsc.bcm.edu	37	7	86808890	86808890	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr7:86808890delC	ENST00000394703.5	+	10	1112	c.549delC	c.(547-549)atcfs	p.I184fs	DMTF1_ENST00000411766.2_Frame_Shift_Del_p.I143fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.I184fs|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.I184fs|DMTF1_ENST00000432937.2_Frame_Shift_Del_p.I96fs|DMTF1_ENST00000394702.3_Frame_Shift_Del_p.I184fs|DMTF1_ENST00000414194.2_5'UTR	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	184	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Interaction with CCND2. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CTACAGAAATCATCTTTGAGA	0.363																																																0													63	58	60					7																	86808890		2203	4300	6503	SO:0001589	frameshift_variant	9988			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.549delC	chr7.hg19:g.86808890delC	ENSP00000378193:p.Ile184fs		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Del	DEL	ENST00000394703.5	hg19	CCDS5601.1																																																																																				0.363	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		-	86808890	C	-	86808890	7	5	622	1	0	1	0	1	0	0	0	0	4594	816	29	0	571	0	DMTF1	7	86808890	Frame_Shift_Del	DEL	C	TCGA-DW-7838-01A-11D-2136-08	42003072	86808890	72329773	29	33861											
ABCB4	5244	hgsc.bcm.edu	37	7	87051487	87051487	+	Silent	SNP	A	A	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr7:87051487A>G	ENST00000265723.4	-	18	2377	c.2266T>C	c.(2266-2268)Ttg>Ctg	p.L756L	ABCB4_ENST00000359206.3_Silent_p.L756L|ABCB4_ENST00000453593.1_Silent_p.L756L|ABCB4_ENST00000545634.1_Silent_p.L756L|ABCB4_ENST00000358400.3_Silent_p.L756L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	756	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AAGAAAATCAAAGAGAATATG	0.338																																																0													56	56	56					7																	87051487		2203	4300	6503	SO:0001819	synonymous_variant	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2266T>C	chr7.hg19:g.87051487A>G			A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	hg19	CCDS5606.1																																																																																				0.338	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		G	87051487	A	G	87051487	2	3	622	1	0	0	0	0	0	0	0	1	43	11	1	3		3	ABCB4	7	87051487	Silent	SNP	A	TCGA-DW-7838-01A-11D-2136-08	242597	87051487	72087176	30	33862											
CYP3A43	64816	hgsc.bcm.edu	37	7	99454477	99454477	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr7:99454477C>A	ENST00000354829.2	+	9	923	c.820C>A	c.(820-822)Cag>Aag	p.Q274K	CYP3A43_ENST00000415413.1_Missense_Mutation_p.Q63K|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_Missense_Mutation_p.Q164K|CYP3A43_ENST00000444905.1_Missense_Mutation_p.Q21K|CYP3A43_ENST00000312017.5_Missense_Mutation_p.Q274K|CYP3A43_ENST00000222382.5_Missense_Mutation_p.Q274K|CYP3A43_ENST00000342499.4_Missense_Mutation_p.Q134K	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	274			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TTTCTTTCAACAGATGATCGA	0.438																																																0													92	99	97					7																	99454477		2203	4300	6503	SO:0001583	missense	64816			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.820C>A	chr7.hg19:g.99454477C>A	ENSP00000346887:p.Gln274Lys		Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	hg19	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731904	0.30684	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.23;-0.28;-0.28	2.26	0.94	0.19513	.	0.176318	0.37623	U	0.002017	T	0.55625	0.1932	L	0.37697	1.125	0.20873	N	0.999837	B;P;B;B;B	0.39094	0.048;0.659;0.023;0.029;0.012	B;P;B;B;B	0.44732	0.067;0.459;0.006;0.011;0.011	T	0.50742	-0.8792	10	0.87932	D	0	.	4.1559	0.10260	0.0:0.6974:0.0:0.3026	.	164;134;274;274;274	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	K	274;164;134;21;63;274;274	ENSP00000346887:Q274K;ENSP00000416581:Q164K;ENSP00000345351:Q134K;ENSP00000405557:Q21K;ENSP00000401521:Q63K;ENSP00000312110:Q274K;ENSP00000222382:Q274K	ENSP00000222382:Q274K	Q	+	1	0	CYP3A43	99292413	0.985000	0.35326	0.730000	0.30809	0.247000	0.25773	0.188000	0.17018	0.257000	0.21650	0.195000	0.17529	CAG		0.438	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			A	99454477	C	A	99454477	3	1	622	1	0	0	0	0	1	0	0	0	4181	479	17	4	854	4	CYP3A43	7	99454477	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	12402990	99454477	59684186	31	33863											
CPA4	51200	hgsc.bcm.edu	37	7	129962495	129962495	+	Silent	SNP	T	T	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr7:129962495T>C	ENST00000222482.4	+	11	1273	c.1245T>C	c.(1243-1245)caT>caC	p.H415H	CPA4_ENST00000493259.1_Silent_p.H311H|CPA4_ENST00000445470.2_Silent_p.H382H	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	415					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TCATGGAGCATGTGCGGGACA	0.537																																																0													198	161	173					7																	129962495		2203	4300	6503	SO:0001819	synonymous_variant	51200			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.1245T>C	chr7.hg19:g.129962495T>C			B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	hg19	CCDS5818.1																																																																																				0.537	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		C	129962495	T	C	129962495	2	2	622	1	0	0	0	0	0	0	0	1	3794	1461	51	3		3	CPA4	7	129962495	Silent	SNP	T	TCGA-DW-7838-01A-11D-2136-08	30508018	129962495	29176168	32	33864	255	2									
CPA4	51200	hgsc.bcm.edu	37	7	129962499	129962499	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr7:129962499C>T	ENST00000222482.4	+	11	1277	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	CPA4_ENST00000493259.1_Missense_Mutation_p.R313W|CPA4_ENST00000445470.2_Missense_Mutation_p.R384W	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	417					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GGAGCATGTGCGGGACAACCT	0.542																																																0													193	157	169					7																	129962499		2203	4300	6503	SO:0001583	missense	51200			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.1249C>T	chr7.hg19:g.129962499C>T	ENSP00000222482:p.Arg417Trp		B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	hg19	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286285	0.40494	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000538687;ENST00000493259	T;T;T	0.03468	3.92;3.92;3.92	5.75	2.87	0.33458	.	0.218110	0.40908	D	0.000989	T	0.13970	0.0338	M	0.79475	2.455	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.65443	0.827;0.935	T	0.01956	-1.1240	10	0.56958	D	0.05	.	9.1872	0.37178	0.2596:0.6719:0.0:0.0685	.	384;417	B7Z576;Q9UI42	.;CBPA4_HUMAN	W	384;417;222;313	ENSP00000412947:R384W;ENSP00000222482:R417W;ENSP00000419660:R313W	ENSP00000222482:R417W	R	+	1	2	CPA4	129749735	0.000000	0.05858	0.981000	0.43875	0.111000	0.19643	0.043000	0.13971	0.763000	0.33175	0.563000	0.77884	CGG		0.542	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		T	129962499	C	T	129962499	3	4	622	1	0	0	0	0	1	0	0	0	3794	759	27	1	1291	1	CPA4	7	129962499	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	4	129962499	29176164	33	33865	255	2									
AKR1B15	441282	hgsc.bcm.edu	37	7	134260620	134260620	+	Silent	SNP	C	C	T	rs267601304		TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr7:134260620C>T	ENST00000457545.2	+	8	944	c.684C>T	c.(682-684)tgC>tgT	p.C228C	AKR1B15_ENST00000423958.1_Silent_p.C200C	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	228							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TCCAGTACTGCCACTCCAAGG	0.532																																																0													111	88	96					7																	134260620		2203	4300	6503	SO:0001819	synonymous_variant	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.684C>T	chr7.hg19:g.134260620C>T			C9J3V2	Silent	SNP	ENST00000457545.2	hg19	CCDS47715.2																																																																																				0.532	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			T	134260620	C	T	134260620	2	4	622	1	0	0	0	0	0	0	0	1	468	747	26	2		2	AKR1B15	7	134260620	Silent	SNP	C	TCGA-DW-7838-01A-11D-2136-08	4298121	134260620	24878043	34	33866											
SVOPL	136306	hgsc.bcm.edu	37	7	138281232	138281232	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr7:138281232G>A	ENST00000419765.3	-	14	1430	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	SVOPL_ENST00000421622.1_Missense_Mutation_p.S346L|SVOPL_ENST00000288513.5_Missense_Mutation_p.S314L|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000436657.1_Missense_Mutation_p.S314L	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	466						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ACAGACAGATGAGAAGAGACA	0.463																																																0													117	111	113					7																	138281232		2203	4300	6503	SO:0001583	missense	136306			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1397C>T	chr7.hg19:g.138281232G>A	ENSP00000405482:p.Ser466Leu			Missense_Mutation	SNP	ENST00000419765.3	hg19	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826903	0.32329	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.260251	0.37483	N	0.002067	T	0.40145	0.1105	N	0.22421	0.69	0.35878	D	0.828749	B;B	0.33171	0.012;0.4	B;B	0.28011	0.055;0.085	T	0.51317	-0.8721	10	0.45353	T	0.12	-3.3112	17.1313	0.86727	0.0:0.0:1.0:0.0	.	466;314	Q8N434;Q8N434-2	SVOPL_HUMAN;.	L	314;346;314;466	ENSP00000288513:S314L;ENSP00000412830:S346L;ENSP00000417018:S314L;ENSP00000405482:S466L	ENSP00000288513:S314L	S	-	2	0	SVOPL	137931772	1.000000	0.71417	0.821000	0.32701	0.024000	0.10985	5.924000	0.70054	2.563000	0.86464	0.655000	0.94253	TCA		0.463	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		A	138281232	G	A	138281232	3	1	622	1	0	0	0	0	1	0	0	0	15429	1294	45	2	89	2	SVOPL	7	138281232	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08	4020612	138281232	20857431	35	33867											
ZNF777	27153	hgsc.bcm.edu	37	7	149152518	149152518	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr7:149152518A>T	ENST00000247930.4	-	2	919	c.596T>A	c.(595-597)cTg>cAg	p.L199Q		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTGGGCCTCCAGCTTCCTCTC	0.597																																																0													67	76	73					7																	149152518		2188	4291	6479	SO:0001583	missense	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.596T>A	chr7.hg19:g.149152518A>T	ENSP00000247930:p.Leu199Gln		Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	hg19	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802961	0.70682	.	.	ENSG00000196453	ENST00000247930	T	0.06294	3.32	4.93	4.93	0.64822	.	0.234968	0.21936	N	0.066956	T	0.06554	0.0168	N	0.08118	0	0.33892	D	0.637431	D	0.54207	0.965	P	0.51355	0.667	T	0.32322	-0.9911	10	0.72032	D	0.01	-14.7997	11.0022	0.47614	1.0:0.0:0.0:0.0	.	199	Q9ULD5-2	.	Q	199	ENSP00000247930:L199Q	ENSP00000247930:L199Q	L	-	2	0	ZNF777	148783451	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.489000	0.66875	1.856000	0.53863	0.533000	0.62120	CTG		0.597	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		T	149152518	A	T	149152518	3	4	622	1	0	0	0	0	1	0	0	0	18155	188	7	5	1919	5	ZNF777	7	149152518	Missense_Mutation	SNP	A	TCGA-DW-7838-01A-11D-2136-08	10871286	149152518	9986145	36	33868											
TSNARE1	203062	hgsc.bcm.edu	37	8	143381927	143381927	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr8:143381927C>G	ENST00000307180.3	-	10	1327	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q	TSNARE1_ENST00000519651.1_Missense_Mutation_p.E185Q|TSNARE1_ENST00000524325.1_Missense_Mutation_p.E403Q|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.E404Q	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	404					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCGCCTGCTCCTGGCCCTGC	0.617																																																0													73	66	69					8																	143381927		2203	4300	6503	SO:0001583	missense	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1210G>C	chr8.hg19:g.143381927C>G	ENSP00000303437:p.Glu404Gln		B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	hg19	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	C	7.933	0.741084	0.15642	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	4.76	3.89	0.44902	t-SNARE (1);	0.233173	0.21158	U	0.079203	T	0.16214	0.0390	L	0.37630	1.12	0.23254	N	0.998034	P;B;P;P	0.47409	0.895;0.421;0.895;0.895	B;B;B;B	0.41299	0.353;0.058;0.353;0.353	T	0.08351	-1.0726	10	0.27082	T	0.32	-20.6332	10.2182	0.43182	0.0:0.9055:0.0:0.0945	.	403;185;404;405	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	Q	403;404;404;185	ENSP00000428763:E403Q;ENSP00000303437:E404Q;ENSP00000427770:E404Q;ENSP00000429679:E185Q	ENSP00000303437:E404Q	E	-	1	0	TSNARE1	143379834	0.970000	0.33590	0.175000	0.22980	0.206000	0.24218	1.184000	0.32053	1.001000	0.39076	-0.137000	0.14449	GAG		0.617	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		G	143381927	C	G	143381927	3	3	622	1	0	0	0	0	1	0	0	0	16635	864	30	4	347	4	TSNARE1	8	143381927	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08		143381927	2982095	37	33869											
TSTD2	158427	hgsc.bcm.edu	37	9	100368460	100368460	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr9:100368460G>T	ENST00000341170.4	-	7	1301	c.919C>A	c.(919-921)Ctt>Att	p.L307I	TSTD2_ENST00000354801.2_Missense_Mutation_p.L47I	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	307	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.							p.L307I(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CAATCAAGAAGGATAGTATCA	0.353																																																1	Substitution - Missense(1)	ovary(1)											117	116	117					9																	100368460		2203	4300	6503	SO:0001583	missense	158427			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.919C>A	chr9.hg19:g.100368460G>T	ENSP00000342499:p.Leu307Ile		A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	hg19	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552202	0.45487	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	T;T;T	0.27104	1.69;1.69;1.69	5.18	3.31	0.37934	Rhodanese-like (5);	0.066943	0.64402	N	0.000014	T	0.17916	0.0430	L	0.41492	1.28	0.32895	D	0.512421	B;B	0.33477	0.013;0.413	B;B	0.35607	0.032;0.206	T	0.14172	-1.0482	10	0.20046	T	0.44	-5.0176	5.6795	0.17767	0.1448:0.0:0.666:0.1892	.	81;307	B3KVC7;Q5T7W7	.;TSTD2_HUMAN	I	81;307;47;47	ENSP00000342499:L307I;ENSP00000364308:L47I;ENSP00000346856:L47I	ENSP00000342499:L307I	L	-	1	0	TSTD2	99408281	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.989000	0.40707	1.490000	0.48466	0.655000	0.94253	CTT		0.353	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		T	100368460	G	T	100368460	3	4	622	1	0	0	0	0	1	0	0	0	16680	1000	35	4	647	4	TSTD2	9	100368460	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08		100368460	40844971	38	33870											
SLC31A1	1317	hgsc.bcm.edu	37	9	116018468	116018469	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr9:116018468_116018469insC	ENST00000374212.4	+	2	192_193	c.40_41insC	c.(40-42)tccfs	p.S14fs	CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Frame_Shift_Ins_p.S14fs	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	14					cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7					Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTATATGGACTCCAACAGTACC	0.436																																					Ovarian(135;1049 1799 4519 17564 28677)											0																																										SO:0001589	frameshift_variant	1317			U83460	CCDS6789.1	9q32	2013-07-17	2013-07-17		ENSG00000136868	ENSG00000136868		"Solute carriers"	11016	protein-coding gene	gene with protein product	copper transport 1 homolog (S. cerevisiae)	603085		COPT1		9207117	Standard	NM_001859		Approved	hCTR1, CTR1	uc004bgu.3	O15431	OTTHUMG00000020519	ENST00000374212.4:c.42dupC	chr9.hg19:g.116018470_116018470dupC	ENSP00000363329:p.Ser14fs		A8K8Z6|Q53GR5|Q5T1M4	Frame_Shift_Ins	INS	ENST00000374212.4	hg19	CCDS6789.1																																																																																				0.436	SLC31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053715.1	NM_001859		C	116018469	-	C	116018468	7	5	622	1	0	1	1	0	0	0	0	0	14569	1551	54	0	42	0	SLC31A1	9	116018468	Frame_Shift_Ins	INS	-	TCGA-DW-7838-01A-11D-2136-08	15650008	116018468	25194963	39	33871											
OR1N2	138882	hgsc.bcm.edu	37	9	125316283	125316283	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr9:125316283delC	ENST00000373688.2	+	1	893	c.835delC	c.(835-837)cctfs	p.P280fs		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTATTTACTTCCTCCATCAAC	0.463																																																0													196	199	198					9																	125316283		2203	4300	6503	SO:0001589	frameshift_variant	138882				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.835delC	chr9.hg19:g.125316283delC	ENSP00000362792:p.Pro280fs		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Frame_Shift_Del	DEL	ENST00000373688.2	hg19	CCDS35123.1																																																																																				0.463	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			-	125316283	C	-	125316283	7	5	622	1	0	1	0	1	0	0	0	0	10972	855	30	0	837	0	OR1N2	9	125316283	Frame_Shift_Del	DEL	C	TCGA-DW-7838-01A-11D-2136-08	9297815	125316283	15897148	40	33872											
HSPA5	3309	hgsc.bcm.edu	37	9	128001454	128001454	+	Silent	SNP	A	A	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr9:128001454A>G	ENST00000324460.6	-	5	965	c.762T>C	c.(760-762)ggT>ggC	p.G254G	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	254					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	AGTCTTCTCCACCCAGATGAG	0.468										Prostate(1;0.17)																																						0													58	57	57					9																	128001454		2203	4300	6503	SO:0001819	synonymous_variant	3309				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.762T>C	chr9.hg19:g.128001454A>G			B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	hg19	CCDS6863.1																																																																																				0.468	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			G	128001454	A	G	128001454	2	3	622	1	0	0	0	0	0	0	0	1	7416	146	6	3		3	HSPA5	9	128001454	Silent	SNP	A	TCGA-DW-7838-01A-11D-2136-08	2685171	128001454	13211977	41	33873											
PKN3	29941	hgsc.bcm.edu	37	9	131476565	131476565	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr9:131476565C>A	ENST00000291906.4	+	11	1795	c.1402C>A	c.(1402-1404)Ccg>Acg	p.P468T		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	468	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CTGCAGCTCCCCGAGCACAAT	0.647																																																0													62	70	67					9																	131476565		2203	4300	6503	SO:0001583	missense	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1402C>A	chr9.hg19:g.131476565C>A	ENSP00000291906:p.Pro468Thr		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	hg19	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	6.729	0.503216	0.12822	.	.	ENSG00000160447	ENST00000291906	T	0.27256	1.68	5.3	4.36	0.52297	.	.	.	.	.	T	0.22742	0.0549	L	0.51422	1.61	0.26351	N	0.977203	P	0.42827	0.791	B	0.40901	0.343	T	0.05616	-1.0874	9	0.09590	T	0.72	.	11.1984	0.48726	0.3181:0.6818:0.0:0.0	.	468	Q6P5Z2	PKN3_HUMAN	T	468	ENSP00000291906:P468T	ENSP00000291906:P468T	P	+	1	0	PKN3	130516386	0.031000	0.19500	0.911000	0.35937	0.516000	0.34256	1.330000	0.33781	2.478000	0.83669	0.563000	0.77884	CCG		0.647	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		A	131476565	C	A	131476565	3	1	622	1	0	0	0	0	1	0	0	0	11983	623	22	4	1444	4	PKN3	9	131476565	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	3475111	131476565	9736866	42	33874											
ZER1	10444	hgsc.bcm.edu	37	9	131512978	131512978	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr9:131512978A>G	ENST00000291900.2	-	8	1682	c.1276T>C	c.(1276-1278)Tac>Cac	p.Y426H	ZER1_ENST00000494461.1_5'Flank|snoU13_ENST00000459043.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	426					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCTGAGCGGTACTCGGAATTT	0.562																																																0													102	89	94					9																	131512978		2203	4300	6503	SO:0001583	missense	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1276T>C	chr9.hg19:g.131512978A>G	ENSP00000291900:p.Tyr426His		O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	hg19	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082101	0.36758	.	.	ENSG00000160445	ENST00000291900	T	0.06218	3.33	4.35	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.146987	0.47455	D	0.000229	T	0.07234	0.0183	L	0.44542	1.39	0.58432	D	0.999999	B	0.26258	0.145	B	0.31191	0.125	T	0.29181	-1.0020	10	0.15499	T	0.54	-31.0091	12.8828	0.58026	1.0:0.0:0.0:0.0	.	426	Q7Z7L7	ZER1_HUMAN	H	426	ENSP00000291900:Y426H	ENSP00000291900:Y426H	Y	-	1	0	ZER1	130552799	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	8.478000	0.90428	1.832000	0.53329	0.383000	0.25322	TAC		0.562	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		G	131512978	A	G	131512978	3	3	622	1	0	0	0	0	1	0	0	0	17630	391	14	3	1060	3	ZER1	9	131512978	Missense_Mutation	SNP	A	TCGA-DW-7838-01A-11D-2136-08	36413	131512978	9700453	43	33875											
AKR1C3	8644	hgsc.bcm.edu	37	10	5139633	5139633	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr10:5139633C>G	ENST00000380554.3	+	3	912	c.260C>G	c.(259-261)tCc>tGc	p.S87C	AKR1C3_ENST00000439082.2_5'UTR|AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000605149.1_Missense_Mutation_p.S64C	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	87					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	CAGCTTTGGTCCACTTTTCAT	0.393																																																0													134	128	130					10																	5139633		2203	4300	6503	SO:0001583	missense	8644			L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.260C>G	chr10.hg19:g.5139633C>G	ENSP00000369927:p.Ser87Cys		A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	hg19	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.788233	0.00628	.	.	ENSG00000196139	ENST00000380554	T	0.26373	1.74	1.93	-3.27	0.05048	NADP-dependent oxidoreductase domain (3);	1.227770	0.05968	N	0.641929	T	0.11153	0.0272	N	0.11651	0.15	0.58432	D	0.999999	B;B	0.15473	0.011;0.013	B;B	0.23852	0.049;0.048	T	0.47045	-0.9147	10	0.05833	T	0.94	.	7.0923	0.25291	0.0:0.392:0.4898:0.1181	.	87;87	B4DKT3;P42330	.;AK1C3_HUMAN	C	87	ENSP00000369927:S87C	ENSP00000369927:S87C	S	+	2	0	AKR1C3	5129633	0.000000	0.05858	0.013000	0.15412	0.934000	0.57294	-1.103000	0.03329	-0.933000	0.03737	-0.458000	0.05436	TCC		0.393	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		G	5139633	C	G	5139633	3	3	622	1	0	0	0	0	1	0	0	0	471	855	30	4	270	4	AKR1C3	10	5139633	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08		5139633	130395114	44	33876											
IL15RA	3601	hgsc.bcm.edu	37	10	6008174	6008174	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr10:6008174T>C	ENST00000379977.3	-	2	314	c.217A>G	c.(217-219)Acg>Gcg	p.T73A	IL15RA_ENST00000528354.1_Missense_Mutation_p.T73A|IL15RA_ENST00000525219.2_Missense_Mutation_p.T37A|IL15RA_ENST00000397248.2_Missense_Mutation_p.T37A|IL15RA_ENST00000397250.2_Intron|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397255.3_Missense_Mutation_p.T73A|IL15RA_ENST00000530685.1_Missense_Mutation_p.T73A|IL15RA_ENST00000397251.3_Intron|IL15RA_ENST00000379971.1_Intron			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	73	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						ACGCACTCCGTCAGGCTGGAC	0.557																																																0													91	78	82					10																	6008174		2203	4300	6503	SO:0001583	missense	3601			U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"Interleukins and interleukin receptors", "CD molecules"	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.217A>G	chr10.hg19:g.6008174T>C	ENSP00000369312:p.Thr73Ala		B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	ENST00000379977.3	hg19	CCDS7074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.76|15.76	2.927337|2.927337	0.52759|0.52759	.|.	.|.	ENSG00000134470|ENSG00000134470	ENST00000397246;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000530685;ENST00000397255;ENST00000429135;ENST00000453922|ENST00000532039	T;T;T;T;T;T;T;T|.	0.29397|.	1.92;1.57;1.57;1.92;1.92;1.57;1.92;1.57|.	4.8|4.8	4.8|4.8	0.61643|0.61643	Complement control module (2);Sushi/SCR/CCP (2);|.	0.149436|.	0.43747|.	D|.	0.000539|.	T|.	0.47414|.	0.1444|.	L|L	0.57536|0.57536	1.79|1.79	0.24971|0.24971	N|N	0.991666|0.991666	D;D|.	0.64830|.	0.994;0.994|.	P;P|.	0.61328|.	0.887;0.887|.	T|.	0.38714|.	-0.9648|.	10|.	0.51188|.	T|.	0.08|.	-16.2672|-16.2672	10.7393|10.7393	0.46143|0.46143	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	73;73|.	Q13261-3;Q13261|.	.;I15RA_HUMAN|.	A|W	37;73;37;37;73;73;73;73;37|43	ENSP00000380420:T37A;ENSP00000369312:T73A;ENSP00000380421:T37A;ENSP00000435454:T73A;ENSP00000435995:T73A;ENSP00000380426:T73A;ENSP00000395113:T73A;ENSP00000405107:T37A|.	ENSP00000322245:T37A|.	T|X	-|-	1|3	0|0	IL15RA|IL15RA	6048180|6048180	0.998000|0.998000	0.40836|0.40836	0.968000|0.968000	0.41197|0.41197	0.304000|0.304000	0.27724|0.27724	3.427000|3.427000	0.52785|0.52785	1.783000|1.783000	0.52377|0.52377	0.379000|0.379000	0.24179|0.24179	ACG|TGA		0.557	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	NM_172200, NM_002189		C	6008174	T	C	6008174	3	2	622	1	0	0	0	0	1	0	0	0	7634	1667	58	3	610	3	IL15RA	10	6008174	Missense_Mutation	SNP	T	TCGA-DW-7838-01A-11D-2136-08	868541	6008174	129526573	45	33877											
VDAC2	7417	hgsc.bcm.edu	37	10	76980587	76980587	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr10:76980587C>T	ENST00000332211.6	+	7	656	c.443C>T	c.(442-444)gCa>gTa	p.A148V	VDAC2_ENST00000313132.4_Missense_Mutation_p.A163V|VDAC2_ENST00000543351.1_Missense_Mutation_p.A148V|VDAC2_ENST00000535553.1_Missense_Mutation_p.A109V|VDAC2_ENST00000472137.1_3'UTR	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	148					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	GCTGGACCTGCAATCCATGGT	0.418																																																0													97	95	95					10																	76980587		2203	4297	6500	SO:0001583	missense	7417			BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"Voltage-dependent anion channels"	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.443C>T	chr10.hg19:g.76980587C>T	ENSP00000361686:p.Ala148Val		Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	ENST00000332211.6	hg19	CCDS7348.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501060	0.44455	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000535553;ENST00000313132;ENST00000447677	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.48	5.48	0.80851	.	0.050056	0.85682	D	0.000000	T	0.26304	0.0642	N	0.05441	-0.05	0.58432	D	0.999999	B;B;B	0.21520	0.025;0.036;0.057	B;B;B	0.22880	0.019;0.036;0.042	T	0.10474	-1.0628	10	0.12766	T	0.61	.	19.3533	0.94401	0.0:1.0:0.0:0.0	.	109;163;148	B4DKM5;P45880-1;P45880	.;.;VDAC2_HUMAN	V	148;148;148;148;109;163;148	ENSP00000298468:A148V;ENSP00000443092:A148V;ENSP00000344876:A148V;ENSP00000361686:A148V;ENSP00000445901:A109V;ENSP00000361635:A163V;ENSP00000401492:A148V	ENSP00000298468:A148V	A	+	2	0	VDAC2	76650593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.013000	0.70776	2.588000	0.87417	0.563000	0.77884	GCA		0.418	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048792.1	NM_003375		T	76980587	C	T	76980587	3	4	622	1	0	0	0	0	1	0	0	0	17152	710	25	2	545	2	VDAC2	10	76980587	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	70972413	76980587	58554160	46	33878											
BTAF1	9044	hgsc.bcm.edu	37	10	93773747	93773747	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr10:93773747A>T	ENST00000265990.6	+	32	4853	c.4545A>T	c.(4543-4545)aaA>aaT	p.K1515N	BTAF1_ENST00000544642.1_Missense_Mutation_p.K343N	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1515					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTCCACCTAAAATTATTCAAG	0.368																																																0													134	144	140					10																	93773747		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4545A>T	chr10.hg19:g.93773747A>T	ENSP00000265990:p.Lys1515Asn		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	hg19	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299734	0.81136	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	D;D	0.94723	-3.5;-3.5	5.8	5.8	0.92144	SNF2-related (1);	0.050554	0.85682	D	0.000000	D	0.98726	0.9572	H	0.99719	4.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.87932	D	0	-21.227	16.2031	0.82102	1.0:0.0:0.0:0.0	.	1515	O14981	BTAF1_HUMAN	N	1515;343;365	ENSP00000265990:K1515N;ENSP00000439924:K343N	ENSP00000265990:K1515N	K	+	3	2	BTAF1	93763727	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.660000	0.68018	2.231000	0.72958	0.524000	0.50904	AAA		0.368	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		T	93773747	A	T	93773747	3	4	622	1	0	0	0	0	1	0	0	0	1538	11	1	5	4671	5	BTAF1	10	93773747	Missense_Mutation	SNP	A	TCGA-DW-7838-01A-11D-2136-08	16793160	93773747	41761000	47	33879											
PSD	5662	hgsc.bcm.edu	37	10	104176443	104176443	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr10:104176443G>C	ENST00000020673.5	-	2	879	c.353C>G	c.(352-354)cCt>cGt	p.P118R	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.P118R	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	118	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCCTGGAGCAGGTAGCCCATT	0.657																																																0													29	33	32					10																	104176443		2203	4296	6499	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.353C>G	chr10.hg19:g.104176443G>C	ENSP00000020673:p.Pro118Arg		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	hg19	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592108	0.66219	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.28666	1.6;1.6	4.36	4.36	0.52297	.	0.109296	0.37483	N	0.002079	T	0.30665	0.0772	N	0.08118	0	0.35207	D	0.774816	D	0.62365	0.991	P	0.58013	0.831	T	0.51068	-0.8752	10	0.66056	D	0.02	.	15.5617	0.76253	0.0:0.0:1.0:0.0	.	118	A5PKW4	PSD1_HUMAN	R	118	ENSP00000020673:P118R;ENSP00000384830:P118R	ENSP00000020673:P118R	P	-	2	0	PSD	104166433	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.473000	0.45145	2.375000	0.81037	0.561000	0.74099	CCT		0.657	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			C	104176443	G	C	104176443	3	2	622	1	0	0	0	0	1	0	0	0	12651	1000	35	4	2785	4	PSD	10	104176443	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08	10402696	104176443	31358304	48	33880											
BRSK2	9024	hgsc.bcm.edu	37	11	1459605	1459605	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr11:1459605G>A	ENST00000528841.1	+	3	640	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	BRSK2_ENST00000308230.5_Missense_Mutation_p.E86K|BRSK2_ENST00000382179.1_Missense_Mutation_p.E132K|BRSK2_ENST00000531197.1_Missense_Mutation_p.E86K|BRSK2_ENST00000528710.1_Missense_Mutation_p.E26K|BRSK2_ENST00000526678.1_Missense_Mutation_p.E86K|BRSK2_ENST00000308219.9_Missense_Mutation_p.E86K			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGACGTTTATGAAAACAAAAA	0.567																																																0													94	104	101					11																	1459605		2156	4273	6429	SO:0001583	missense	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.256G>A	chr11.hg19:g.1459605G>A	ENSP00000432000:p.Glu86Lys		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	hg19	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766637	0.90020	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528596;ENST00000524702;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	2.57	2.57	0.30868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063288	0.64402	U	0.000008	T	0.78457	0.4286	M	0.71581	2.175	0.80722	D	1	P;D;B;D;D	0.71674	0.64;0.998;0.411;0.966;0.958	P;D;B;D;P	0.78314	0.602;0.991;0.354;0.923;0.875	T	0.81289	-0.1000	10	0.87932	D	0	.	12.2615	0.54652	0.0:0.0:1.0:0.0	.	86;132;86;86;86	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	K	86;86;86;86;86;26;26;26;132	ENSP00000310697:E86K;ENSP00000431152:E86K;ENSP00000310805:E86K;ENSP00000432000:E86K;ENSP00000433370:E86K;ENSP00000434075:E26K;ENSP00000432672:E26K;ENSP00000433235:E26K;ENSP00000371614:E132K	ENSP00000310697:E86K	E	+	1	0	BRSK2	1416181	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.575000	0.74018	1.455000	0.47813	0.313000	0.20887	GAA		0.567	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		A	1459605	G	A	1459605	3	1	622	1	0	0	0	0	1	0	0	0	1526	1291	45	2	266	2	BRSK2	11	1459605	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08		1459605	133546911	49	33881											
FBXO3	26273	hgsc.bcm.edu	37	11	33770334	33770334	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr11:33770334G>T	ENST00000265651.3	-	9	1055	c.1037C>A	c.(1036-1038)cCt>cAt	p.P346H	FBXO3_ENST00000534136.1_Missense_Mutation_p.P346H|FBXO3_ENST00000448981.2_Missense_Mutation_p.P346H|FBXO3_ENST00000531080.1_Missense_Mutation_p.P33H|FBXO3_ENST00000532057.1_Missense_Mutation_p.P33H|FBXO3_ENST00000526785.1_Missense_Mutation_p.P233H|FBXO3_ENST00000530401.1_Missense_Mutation_p.P341H	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	346	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		AACTACTCCAGGTCCTTGAAC	0.368																																																0													103	102	102					11																	33770334		2202	4298	6500	SO:0001583	missense	26273			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1037C>A	chr11.hg19:g.33770334G>T	ENSP00000265651:p.Pro346His		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	hg19	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768020	0.90020	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000530401;ENST00000531080;ENST00000532057;ENST00000534136;ENST00000448981	T;T;T;T;T	0.47869	0.84;0.83;0.86;0.86;0.87	5.61	5.61	0.85477	ApaG domain (4);	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.77486	2.375	0.80722	D	1	P;P;D	0.89917	0.936;0.936;1.0	P;P;D	0.77004	0.64;0.64;0.989	T	0.69636	-0.5092	10	0.41790	T	0.15	-16.4467	19.6304	0.95699	0.0:0.0:1.0:0.0	.	341;346;346	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	H	233;346;341;33;33;346;346	ENSP00000435680:P233H;ENSP00000265651:P346H;ENSP00000433781:P341H;ENSP00000431745:P346H;ENSP00000408836:P346H	ENSP00000265651:P346H	P	-	2	0	FBXO3	33726910	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.663000	0.90544	0.491000	0.48974	CCT		0.368	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		T	33770334	G	T	33770334	3	4	622	1	0	0	0	0	1	0	0	0	5741	1000	35	4	399	4	FBXO3	11	33770334	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08	32310729	33770334	101236182	50	33882											
USP5	8078	hgsc.bcm.edu	37	12	6968684	6968684	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr12:6968684C>T	ENST00000229268.8	+	9	1161	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I	USP5_ENST00000389231.5_Missense_Mutation_p.T370I	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	370	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACGGACCCTACCCAGGATTTC	0.562																																																0													91	83	86					12																	6968684		2203	4300	6503	SO:0001583	missense	8078			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1109C>T	chr12.hg19:g.6968684C>T	ENSP00000229268:p.Thr370Ile		D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	hg19	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072808	0.93950	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.29655	1.56;1.56	5.38	5.38	0.77491	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.046637	0.85682	D	0.000000	T	0.56232	0.1971	M	0.74546	2.27	0.80722	D	1	D;P	0.57899	0.981;0.534	D;P	0.66497	0.944;0.454	T	0.51560	-0.8690	10	0.39692	T	0.17	-8.4151	19.3333	0.94303	0.0:1.0:0.0:0.0	.	370;370	P45974;P45974-2	UBP5_HUMAN;.	I	370	ENSP00000229268:T370I;ENSP00000373883:T370I	ENSP00000229268:T370I	T	+	2	0	USP5	6838945	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.609000	0.82925	2.793000	0.96121	0.655000	0.94253	ACC		0.562	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			T	6968684	C	T	6968684	3	4	622	1	0	0	0	0	1	0	0	0	17086	507	18	2	1143	2	USP5	12	6968684	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08		6968684	126883211	51	33883											
CGRRF1	10668	hgsc.bcm.edu	37	14	55005042	55005042	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr14:55005042G>C	ENST00000216420.7	+	6	1072	c.940G>C	c.(940-942)Gaa>Caa	p.E314Q		NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	314					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GTTTGTTCAGGAATCTTTTGC	0.423																																																0													97	89	92					14																	55005042		2203	4300	6503	SO:0001583	missense	10668			BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"RING-type (C3HC4) zinc fingers"	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.940G>C	chr14.hg19:g.55005042G>C	ENSP00000216420:p.Glu314Gln		Q96BX2	Missense_Mutation	SNP	ENST00000216420.7	hg19	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850667	0.71719	.	.	ENSG00000100532	ENST00000216420	T	0.67523	-0.27	5.23	3.42	0.39159	Zinc finger, RING/FYVE/PHD-type (1);	0.046947	0.85682	D	0.000000	T	0.60064	0.2240	N	0.25094	0.71	0.43088	D	0.994752	D	0.54601	0.967	P	0.52159	0.691	T	0.57329	-0.7830	10	0.33141	T	0.24	-14.1511	11.656	0.51318	0.143:0.0:0.857:0.0	.	314	Q99675	CGRF1_HUMAN	Q	314	ENSP00000216420:E314Q	ENSP00000216420:E314Q	E	+	1	0	CGRRF1	54074792	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.236000	0.78154	0.794000	0.33899	0.462000	0.41574	GAA		0.423	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		C	55005042	G	C	55005042	3	2	622	1	0	0	0	0	1	0	0	0	3308	1175	41	4	962	4	CGRRF1	14	55005042	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08		55005042	52344498	52	33884											
CLMN	79789	hgsc.bcm.edu	37	14	95670344	95670344	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr14:95670344C>T	ENST00000298912.4	-	9	1455	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	448					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTTGGGCTCCCTTCAAAGCAA	0.483																																																0													87	82	84					14																	95670344		2203	4300	6503	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1342G>A	chr14.hg19:g.95670344C>T	ENSP00000298912:p.Gly448Arg		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	hg19	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.673672	0.29693	.	.	ENSG00000165959	ENST00000298912	D	0.94537	-3.45	5.63	3.66	0.41972	.	0.000000	0.38837	N	0.001556	D	0.90896	0.7139	M	0.66939	2.045	0.18873	N	0.999986	P	0.37122	0.583	B	0.32342	0.144	D	0.86083	0.1545	10	0.87932	D	0	.	5.9466	0.19221	0.3449:0.5687:0.0:0.0864	.	448	Q96JQ2	CLMN_HUMAN	R	448	ENSP00000298912:G448R	ENSP00000298912:G448R	G	-	1	0	CLMN	94740097	0.137000	0.22531	0.209000	0.23619	0.021000	0.10359	0.357000	0.20199	1.337000	0.45525	0.655000	0.94253	GGG		0.483	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			T	95670344	C	T	95670344	3	4	622	1	0	0	0	0	1	0	0	0	3544	681	24	2	1686	2	CLMN	14	95670344	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	40665302	95670344	11679196	53	33885											
SPTBN5	51332	hgsc.bcm.edu	37	15	42149779	42149779	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr15:42149779C>G	ENST00000320955.6	-	50	8583	c.8356G>C	c.(8356-8358)Gcc>Ccc	p.A2786P		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2786					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACCTCACAGGCCTTCTGGAGC	0.652																																																0													28	34	32					15																	42149779		2004	4170	6174	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8356G>C	chr15.hg19:g.42149779C>G	ENSP00000317790:p.Ala2786Pro			Missense_Mutation	SNP	ENST00000320955.6	hg19		.	.	.	.	.	.	.	.	.	.	.	15.93	2.979532	0.53827	.	.	ENSG00000137877	ENST00000320955	T	0.39787	1.06	4.2	3.28	0.37604	.	0.000000	0.56097	D	0.000023	T	0.62720	0.2451	M	0.78049	2.395	0.19300	N	0.99998	D	0.89917	1.0	D	0.77004	0.989	T	0.56463	-0.7975	10	0.72032	D	0.01	.	12.048	0.53491	0.0:0.916:0.0:0.084	.	2786	Q9NRC6	SPTN5_HUMAN	P	2786	ENSP00000317790:A2786P	ENSP00000317790:A2786P	A	-	1	0	SPTBN5	39937071	0.983000	0.35010	0.020000	0.16555	0.009000	0.06853	2.620000	0.46410	0.977000	0.38444	0.467000	0.42956	GCC		0.652	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		G	42149779	C	G	42149779	3	3	622	1	0	0	0	0	1	0	0	0	15127	739	26	4	2744	4	SPTBN5	15	42149779	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08		42149779	60381613	54	33886											
C16orf92	146378	hgsc.bcm.edu	37	16	30035201	30035219	+	Splice_Site	DEL	ACTCAGGTATGAACCAGCT	ACTCAGGTATGAACCAGCT	-			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	ACTCAGGTATGAACCAGCT	ACTCAGGTATGAACCAGCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr16:30035201_30035219delACTCAGGTATGAACCAGCT	ENST00000300575.2	+	2	305_310	c.284_289delACTCAGGTATGAACCAGCT	c.(283-291)aactcaggt>agt	p.NSG95fs	DOC2A_ENST00000567824.1_5'Flank	NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	95						integral component of membrane (GO:0016021)				breast(3)|lung(3)	6						GTGTTCATTAACTCAGGTATGAACCAGCTTGAGAAGGGA	0.543																																																0																																										SO:0001630	splice_region_variant	146378			AK058133	CCDS42146.1	16p11.2	2012-05-30			ENSG00000167194	ENSG00000167194			26346	protein-coding gene	gene with protein product							Standard	NM_001109659		Approved	FLJ25404	uc002dvs.2	Q96LL3	OTTHUMG00000177107	ENST00000300575.2:c.289+1ACTCAGGTATGAACCAGCT>-	chr16.hg19:g.30035201_30035219delACTCAGGTATGAACCAGCT			Q494R8	Frame_Shift_Del	DEL	ENST00000300575.2	hg19	CCDS42146.1																																																																																				0.543	C16orf92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435351.1	NM_001109659	Frame_Shift_Del	-	30035219	ACTCAGGTATGAACCAGCT	-	30035201	8	5	622	1	0	1	0	1	0	0	1	0	1847	43	2	0	304	0	C16orf92	16	30035201	Splice_Site	DEL	ACTCAGGTATGAACCAGCT	TCGA-DW-7838-01A-11D-2136-08		30035201	60319552	55	33887											
SALL1	6299	hgsc.bcm.edu	37	16	51172851	51172851	+	Silent	SNP	A	A	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr16:51172851A>G	ENST00000251020.4	-	2	3315	c.3282T>C	c.(3280-3282)caT>caC	p.H1094H	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.H997H	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1094					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGGAGAAACATGCACGAAGC	0.572																																					GBM(103;1352 1446 1855 4775 8890)											0													116	104	108					16																	51172851		2198	4300	6498	SO:0001819	synonymous_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3282T>C	chr16.hg19:g.51172851A>G			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	hg19	CCDS10747.1																																																																																				0.572	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		G	51172851	A	G	51172851	2	3	622	1	0	0	0	0	0	0	0	1	13816	214	8	3		3	SALL1	16	51172851	Silent	SNP	A	TCGA-DW-7838-01A-11D-2136-08	21137650	51172851	39181902	56	33888											
FAM65A	79567	hgsc.bcm.edu	37	16	67577079	67577079	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr16:67577079T>A	ENST00000379312.3	+	13	2523	c.2402T>A	c.(2401-2403)cTa>cAa	p.L801Q	FAM65A_ENST00000042381.4_Missense_Mutation_p.L797Q|FAM65A_ENST00000540839.3_Missense_Mutation_p.L817Q|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.L817Q|FAM65A_ENST00000428437.2_Missense_Mutation_p.L811Q|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	801						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTGGGGGCCCTAATGGCTGCC	0.642																																																0													17	16	17					16																	67577079		2198	4298	6496	SO:0001583	missense	79567			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2402T>A	chr16.hg19:g.67577079T>A	ENSP00000368614:p.Leu801Gln		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	hg19	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237952	0.79800	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.49432	0.78;0.78;0.78	5.52	5.52	0.82312	.	0.070064	0.56097	D	0.000022	T	0.67258	0.2874	M	0.72894	2.215	0.09310	N	0.999991	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.68765	0.96;0.96;0.96;0.96	T	0.63664	-0.6586	10	0.87932	D	0	-9.5432	15.6534	0.77115	0.0:0.0:0.0:1.0	.	811;817;801;817	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	Q	801;797;817;811	ENSP00000368614:L801Q;ENSP00000042381:L797Q;ENSP00000400099:L817Q	ENSP00000042381:L797Q	L	+	2	0	FAM65A	66134580	0.901000	0.30685	0.994000	0.49952	0.920000	0.55202	4.728000	0.62000	2.120000	0.65058	0.454000	0.30748	CTA		0.642	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		A	67577079	T	A	67577079	3	1	622	1	0	0	0	0	1	0	0	0	5601	1522	53	5	2436	5	FAM65A	16	67577079	Missense_Mutation	SNP	T	TCGA-DW-7838-01A-11D-2136-08	16404228	67577079	22777674	57	33889											
ZZEF1	23140	hgsc.bcm.edu	37	17	3919676	3919676	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr17:3919676C>A	ENST00000381638.2	-	49	8210	c.8086G>T	c.(8086-8088)Gga>Tga	p.G2696*		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2696							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACCTCCATTCCTGGCTCCTCC	0.597																																																0													154	114	127					17																	3919676		2203	4300	6503	SO:0001587	stop_gained	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8086G>T	chr17.hg19:g.3919676C>A	ENSP00000371051:p.Gly2696*		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	hg19	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	50	17.192008	0.99881	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.3127	20.0271	0.97525	0.0:1.0:0.0:0.0	.	.	.	.	X	2696	.	ENSP00000371051:G2696X	G	-	1	0	ZZEF1	3866425	1.000000	0.71417	0.961000	0.40146	0.948000	0.59901	7.487000	0.81328	2.744000	0.94065	0.650000	0.86243	GGA		0.597	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		A	3919676	C	A	3919676	4	1	622	1	0	0	0	0	0	1	0	0	18260	690	24	4	827	4	ZZEF1	17	3919676	Nonsense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08		3919676	77275534	58	33890											
ZFP3	124961	hgsc.bcm.edu	37	17	4995909	4995909	+	Silent	SNP	T	T	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr17:4995909T>C	ENST00000318833.3	+	2	1446	c.1110T>C	c.(1108-1110)tgT>tgC	p.C370C		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GTAAGGAATGTGGGAAGGCCT	0.413																																																0													46	48	48					17																	4995909		2203	4300	6503	SO:0001819	synonymous_variant	124961			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"Zinc fingers, C2H2-type"	12861	protein-coding gene	gene with protein product		194480	"zinc finger protein homologous to Zfp-3 in mouse", "zinc finger protein 3 homolog (mouse)"				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1110T>C	chr17.hg19:g.4995909T>C			A5PLL4	Silent	SNP	ENST00000318833.3	hg19	CCDS11067.1																																																																																				0.413	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		C	4995909	T	C	4995909	2	2	622	1	0	0	0	0	0	0	0	1	17648	1702	59	3		3	ZFP3	17	4995909	Silent	SNP	T	TCGA-DW-7838-01A-11D-2136-08	1076233	4995909	76199301	59	33891											
WIPF2	147179	hgsc.bcm.edu	37	17	38420795	38420800	+	In_Frame_Del	DEL	CCAAGG	CCAAGG	-			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	CCAAGG	CCAAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr17:38420795_38420800delCCAAGG	ENST00000323571.4	+	5	607_612	c.367_372delCCAAGG	c.(367-372)ccaaggdel	p.PR123del	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_In_Frame_Del_p.PR123del|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_In_Frame_Del_p.PR123del	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	123					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.R124G(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AGCTGCTGCCCCAAGGCCTCCAGTAT	0.573										HNSCC(43;0.11)																																						1	Substitution - Missense(1)	kidney(1)																																								SO:0001651	inframe_deletion	147179			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.367_372delCCAAGG	chr17.hg19:g.38420795_38420800delCCAAGG	ENSP00000320924:p.Pro123_Arg124del		A8K0L3|Q658J8|Q71RE1|Q8TE44	In_Frame_Del	DEL	ENST00000323571.4	hg19	CCDS11364.1																																																																																				0.573	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		-	38420800	CCAAGG	-	38420795	7	5	622	1	0	1	0	1	0	0	0	0	17373	623	22	0	381	0	WIPF2	17	38420795	In_Frame_Del	DEL	CCAAGG	TCGA-DW-7838-01A-11D-2136-08	33424886	38420795	42774415	60	33892			1	55		2	2	12	N	CCAAGG_A	2.736039e-05
WIPF2	147179	hgsc.bcm.edu	37	17	38420806	38420806	+	Silent	SNP	A	A	G	rs139121244		TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr17:38420806A>G	ENST00000323571.4	+	5	618	c.378A>G	c.(376-378)ccA>ccG	p.P126P	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Silent_p.P126P|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Silent_p.P126P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	126					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CAAGGCCTCCAGTATCTGCCG	0.582										HNSCC(43;0.11)																																						0										1,4405	2.1+/-5.4	0,1,2202	60	69	66		378	-5.5	0.3	17	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous	WIPF2	NM_133264.4		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		126/441	38420806	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147179			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.378A>G	chr17.hg19:g.38420806A>G			A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	hg19	CCDS11364.1																																																																																				0.582	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		G	38420806	A	G	38420806	2	3	622	1	0	0	0	0	0	0	0	1	17373	175	7	3		3	WIPF2	17	38420806	Silent	SNP	A	TCGA-DW-7838-01A-11D-2136-08	11	38420806	42774404	61	33893			1	55		2	2	12	N	CCAAGG_A	2.736039e-05
KRT37	8688	hgsc.bcm.edu	37	17	39577782	39577782	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr17:39577782C>G	ENST00000225550.3	-	6	1077	c.1078G>C	c.(1078-1080)Gcc>Ccc	p.A360P	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	360	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TGCATCTGGGCCAGCTCTGTG	0.567																																																0													66	63	64					17																	39577782		2203	4300	6503	SO:0001583	missense	8688			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1078G>C	chr17.hg19:g.39577782C>G	ENSP00000225550:p.Ala360Pro			Missense_Mutation	SNP	ENST00000225550.3	hg19	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037494	0.54896	.	.	ENSG00000108417	ENST00000225550	T	0.14640	2.49	5.44	2.17	0.27698	Filament (1);	0.000000	0.49305	D	0.000155	T	0.32763	0.0840	H	0.96861	3.895	0.28206	N	0.92715	B	0.34349	0.45	B	0.37239	0.244	T	0.42582	-0.9443	10	0.66056	D	0.02	.	13.3764	0.60741	0.5453:0.4547:0.0:0.0	.	360	O76014	KRT37_HUMAN	P	360	ENSP00000225550:A360P	ENSP00000225550:A360P	A	-	1	0	KRT37	36831308	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.196000	0.09532	0.197000	0.20387	0.655000	0.94253	GCC		0.567	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		G	39577782	C	G	39577782	3	3	622	1	0	0	0	0	1	0	0	0	8476	739	26	4	279	4	KRT37	17	39577782	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	1156976	39577782	41617428	62	33894											
MED13	9969	hgsc.bcm.edu	37	17	60023946	60023946	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr17:60023946C>G	ENST00000397786.2	-	30	6484	c.6408G>C	c.(6406-6408)caG>caC	p.Q2136H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2136					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGCATTGTACTGTTCCAAAA	0.378																																																0													79	74	76					17																	60023946		1866	4104	5970	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6408G>C	chr17.hg19:g.60023946C>G	ENSP00000380888:p.Gln2136His		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	hg19	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576706	0.45902	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.83837	-1.77	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.90748	0.7096	M	0.75447	2.3	0.80722	D	1	D	0.67145	0.996	D	0.81914	0.995	D	0.90884	0.4756	10	0.48119	T	0.1	-4.4995	18.2754	0.90081	0.0:1.0:0.0:0.0	.	2136	Q9UHV7	MED13_HUMAN	H	2136;2135	ENSP00000380888:Q2136H	ENSP00000262436:Q2135H	Q	-	3	2	MED13	57378728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.315000	0.78130	0.591000	0.81541	CAG		0.378	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		G	60023946	C	G	60023946	3	3	622	1	0	0	0	0	1	0	0	0	9432	564	20	4	120	4	MED13	17	60023946	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	20446164	60023946	21171264	63	33895											
RNF157	114804	hgsc.bcm.edu	37	17	74163165	74163165	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr17:74163165C>A	ENST00000269391.6	-	5	618	c.486G>T	c.(484-486)caG>caT	p.Q162H	RNF157_ENST00000319945.6_Missense_Mutation_p.Q162H	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	162							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCGCTTGTACTGCACAGTCT	0.567																																					GBM(186;507 2120 27388 27773 52994)											0													127	114	118					17																	74163165		2203	4300	6503	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.486G>T	chr17.hg19:g.74163165C>A	ENSP00000269391:p.Gln162His		Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	hg19	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	4.577	0.107271	0.08780	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.27890	1.64;1.64	5.43	2.38	0.29361	.	0.131468	0.64402	N	0.000001	T	0.05593	0.0147	N	0.00152	-1.975	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40757	-0.9546	10	0.02654	T	1	-4.6639	10.0104	0.41984	0.0971:0.1243:0.7785:0.0	.	162;162	Q96PX1-2;Q96PX1	.;RN157_HUMAN	H	162;162;124	ENSP00000269391:Q162H;ENSP00000321837:Q162H	ENSP00000269391:Q162H	Q	-	3	2	RNF157	71674760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.577000	0.23758	0.271000	0.22005	-0.128000	0.14901	CAG		0.567	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		A	74163165	C	A	74163165	3	1	622	1	0	0	0	0	1	0	0	0	13460	564	20	4	1613	4	RNF157	17	74163165	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	14139219	74163165	7032045	64	33896											
BIRC5	332	hgsc.bcm.edu	37	17	76212806	76212806	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr17:76212806G>A	ENST00000350051.3	+	3	402	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	AC087645.1_ENST00000600484.1_Missense_Mutation_p.S264F|BIRC5_ENST00000301633.4_Missense_Mutation_p.E118K|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000589892.1_3'UTR	NM_001168.2	NP_001159.2	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	95					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			GCAGTTTGAAGAATTAACCCT	0.398																																																0													72	79	77					17																	76212806		2203	4300	6503	SO:0001583	missense	332			U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"Baculoviral IAP repeat containing"	593	protein-coding gene	gene with protein product	"survivin variant 3 alpha"	603352	"apoptosis inhibitor 4", "baculoviral IAP repeat-containing 5"	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000350051.3:c.283G>A	chr17.hg19:g.76212806G>A	ENSP00000324180:p.Glu95Lys		A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Missense_Mutation	SNP	ENST00000350051.3	hg19	CCDS11755.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456362	0.84317	.	.	ENSG00000089685	ENST00000301633;ENST00000350051;ENST00000432014	T;T	0.03920	3.76;3.76	5.62	5.62	0.85841	Baculoviral inhibition of apoptosis protein repeat (1);	0.384181	0.30762	N	0.008935	T	0.07728	0.0194	L	0.59436	1.845	0.80722	D	1	B;B;B;P	0.50617	0.18;0.118;0.415;0.937	B;B;B;B	0.39590	0.053;0.036;0.202;0.304	T	0.18335	-1.0340	10	0.40728	T	0.16	-19.2617	17.1223	0.86705	0.0:0.0:1.0:0.0	.	95;95;118;95	O15392-4;O15392;O15392-2;A3E0Z5	.;BIRC5_HUMAN;.;.	K	118;95;118	ENSP00000301633:E118K;ENSP00000324180:E95K	ENSP00000301633:E118K	E	+	1	0	BIRC5	73724401	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.796000	0.62496	2.648000	0.89879	0.462000	0.41574	GAA		0.398	BIRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437231.2	NM_001168		A	76212806	G	A	76212806	3	1	622	1	0	0	0	0	1	0	0	0	1437	943	33	2	366	2	BIRC5	17	76212806	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08	2049641	76212806	4982404	65	33897											
APCDD1	147495	hgsc.bcm.edu	37	18	10471914	10471914	+	Silent	SNP	G	G	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr18:10471914G>A	ENST00000355285.5	+	3	984	c.630G>A	c.(628-630)caG>caA	p.Q210Q	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		ATGAACTTCAGCTCATCCGGG	0.582																																																0													145	132	136					18																	10471914		2203	4300	6503	SO:0001819	synonymous_variant	147495			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.630G>A	chr18.hg19:g.10471914G>A				Silent	SNP	ENST00000355285.5	hg19	CCDS11849.1																																																																																				0.582	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		A	10471914	G	A	10471914	2	1	622	1	0	0	0	0	0	0	0	1	765	962	34	2		2	APCDD1	18	10471914	Silent	SNP	G	TCGA-DW-7838-01A-11D-2136-08		10471914	67605334	66	33898											
CEP192	55125	hgsc.bcm.edu	37	18	13071144	13071144	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr18:13071144G>T	ENST00000325971.8	+	26	5086	c.3493G>T	c.(3493-3495)Gat>Tat	p.D1165Y	CEP192_ENST00000506447.1_Missense_Mutation_p.D1761Y|CEP192_ENST00000430049.2_Missense_Mutation_p.D1286Y			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1165					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACCTTGCTTAGATATTCCATC	0.423																																																0													110	110	110					18																	13071144		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3493G>T	chr18.hg19:g.13071144G>T	ENSP00000317156:p.Asp1165Tyr		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	hg19		.	.	.	.	.	.	.	.	.	.	G	17.34	3.365339	0.61513	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.47869	0.83;0.83;0.83	5.35	3.54	0.40534	.	0.121003	0.53938	D	0.000055	T	0.64875	0.2638	M	0.73962	2.25	0.58432	D	0.999998	B;D;B	0.89917	0.368;1.0;0.328	B;D;B	0.79108	0.091;0.992;0.104	T	0.67692	-0.5605	10	0.87932	D	0	-11.9129	9.8383	0.40982	0.0725:0.0:0.7869:0.1406	.	1286;1761;363	C9JT09;E9PF99;Q9HCK3	.;.;.	Y	1761;1165;1165;1286	ENSP00000427550:D1761Y;ENSP00000317156:D1165Y;ENSP00000389190:D1286Y	ENSP00000317156:D1165Y	D	+	1	0	CEP192	13061144	1.000000	0.71417	0.650000	0.29550	0.606000	0.37113	3.512000	0.53407	1.230000	0.43646	0.650000	0.86243	GAT		0.423	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		T	13071144	G	T	13071144	3	4	622	1	0	0	0	0	1	0	0	0	3253	942	33	4	5387	4	CEP192	18	13071144	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08	2599230	13071144	65006104	67	33899											
ZNF519	162655	hgsc.bcm.edu	37	18	14105675	14105675	+	Silent	SNP	T	T	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr18:14105675T>C	ENST00000590202.1	-	3	1016	c.864A>G	c.(862-864)ggA>ggG	p.G288G	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	288					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AAGGTTTCTCTCCAGTATGAA	0.363																																																0													49	53	52					18																	14105675		2203	4299	6502	SO:0001819	synonymous_variant	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.864A>G	chr18.hg19:g.14105675T>C				Silent	SNP	ENST00000590202.1	hg19	CCDS32797.1																																																																																				0.363	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		C	14105675	T	C	14105675	2	2	622	1	0	0	0	0	0	0	0	1	17969	1538	54	3		3	ZNF519	18	14105675	Silent	SNP	T	TCGA-DW-7838-01A-11D-2136-08	1034531	14105675	63971573	68	33900											
LAMA3	3909	hgsc.bcm.edu	37	18	21451430	21451430	+	Silent	SNP	G	G	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr18:21451430G>T	ENST00000313654.9	+	38	5044	c.4803G>T	c.(4801-4803)gtG>gtT	p.V1601V	LAMA3_ENST00000399516.3_Silent_p.V1601V|LAMA3_ENST00000587184.1_5'Flank|LAMA3_ENST00000269217.6_5'Flank	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1601	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GTGCCCCAGTGTCTAGGGAGG	0.552																																																0													66	69	68					18																	21451430		2040	4193	6233	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4803G>T	chr18.hg19:g.21451430G>T			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	hg19	CCDS42419.1																																																																																				0.552	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		T	21451430	G	T	21451430	2	4	622	1	0	0	0	0	0	0	0	1	8609	1364	48	4		4	LAMA3	18	21451430	Silent	SNP	G	TCGA-DW-7838-01A-11D-2136-08	7345755	21451430	56625818	69	33901											
ZNF521	25925	hgsc.bcm.edu	37	18	22805629	22805629	+	Silent	SNP	G	G	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr18:22805629G>C	ENST00000361524.3	-	4	2401	c.2253C>G	c.(2251-2253)gtC>gtG	p.V751V	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.V531V|ZNF521_ENST00000538137.2_Silent_p.V751V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	751					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCACCTATAGACTTTCTTTT	0.468			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													75	71	72					18																	22805629		2203	4300	6503	SO:0001819	synonymous_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2253C>G	chr18.hg19:g.22805629G>C			A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	hg19	CCDS32806.1																																																																																				0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		C	22805629	G	C	22805629	2	2	622	1	0	0	0	0	0	0	0	1	17970	929	33	4		4	ZNF521	18	22805629	Silent	SNP	G	TCGA-DW-7838-01A-11D-2136-08	1354199	22805629	55271619	70	33902											
ZNF430	80264	hgsc.bcm.edu	37	19	21240780	21240780	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr19:21240780C>G	ENST00000261560.5	+	5	1847	c.1666C>G	c.(1666-1668)Ctt>Gtt	p.L556V	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	556					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTCCTCAAACCTTATTGAACA	0.383																																																0													36	41	40					19																	21240780		2182	4285	6467	SO:0001583	missense	80264			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1666C>G	chr19.hg19:g.21240780C>G	ENSP00000261560:p.Leu556Val		Q86V70	Missense_Mutation	SNP	ENST00000261560.5	hg19	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	7.976	0.750166	0.15778	.	.	ENSG00000118620	ENST00000261560	T	0.68331	-0.32	1.01	1.01	0.19927	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81341	0.4802	M	0.88105	2.93	0.09310	N	1	D;P	0.57571	0.98;0.457	D;B	0.68353	0.957;0.329	T	0.68685	-0.5343	9	0.87932	D	0	.	8.8921	0.35441	0.0:1.0:0.0:0.0	.	555;556	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	V	556	ENSP00000261560:L556V	ENSP00000261560:L556V	L	+	1	0	ZNF430	21032620	0.000000	0.05858	0.014000	0.15608	0.014000	0.08584	-0.502000	0.06390	0.453000	0.26858	0.456000	0.33151	CTT		0.383	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		G	21240780	C	G	21240780	3	3	622	1	0	0	0	0	1	0	0	0	17909	681	24	4	1684	4	ZNF430	19	21240780	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08		21240780	37888203	71	33903											
DPY19L3	147991	hgsc.bcm.edu	37	19	32930113	32930113	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr19:32930113T>G	ENST00000342179.5	+	7	907	c.692T>G	c.(691-693)cTg>cGg	p.L231R	DPY19L3_ENST00000392250.2_Missense_Mutation_p.L231R|DPY19L3_ENST00000586987.1_Missense_Mutation_p.L231R	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	231						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					ACATATTTCCTGAGACCAAAC	0.363																																																0													133	131	132					19																	32930113		2203	4300	6503	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.692T>G	chr19.hg19:g.32930113T>G	ENSP00000344937:p.Leu231Arg		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	hg19	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333525	0.81801	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.65549	-0.16;-0.16	5.66	5.66	0.87406	.	0.075638	0.53938	D	0.000041	T	0.81331	0.4800	M	0.84683	2.71	0.53005	D	0.99996	D	0.76494	0.999	D	0.76575	0.988	D	0.84659	0.0705	10	0.87932	D	0	-8.1242	15.8965	0.79338	0.0:0.0:0.0:1.0	.	231	Q6ZPD9	D19L3_HUMAN	R	231	ENSP00000376081:L231R;ENSP00000344937:L231R	ENSP00000315672:L231R	L	+	2	0	DPY19L3	37621953	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.816000	0.86201	2.163000	0.67991	0.460000	0.39030	CTG		0.363	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		G	32930113	T	G	32930113	3	3	622	1	0	0	0	0	1	0	0	0	4744	1580	55	5	714	5	DPY19L3	19	32930113	Missense_Mutation	SNP	T	TCGA-DW-7838-01A-11D-2136-08	11689333	32930113	26198870	72	33904											
ATP1A3	478	hgsc.bcm.edu	37	19	42485703	42485703	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr19:42485703C>A	ENST00000302102.5	-	11	1538	c.1388G>T	c.(1387-1389)cGc>cTc	p.R463L	ATP1A3_ENST00000545399.1_Missense_Mutation_p.R476L|ATP1A3_ENST00000602133.1_Missense_Mutation_p.R433L|ATP1A3_ENST00000543770.1_Missense_Mutation_p.R474L	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	463					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTTCTTGTTGCGTTCACGCAT	0.552																																																0													111	95	100					19																	42485703		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1388G>T	chr19.hg19:g.42485703C>A	ENSP00000302397:p.Arg463Leu		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	hg19	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882720	0.51908	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	3.88	3.88	0.44766	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.240845	0.39834	N	0.001256	D	0.89760	0.6808	N	0.20483	0.58	0.45108	D	0.998124	B;B;B;B	0.29136	0.004;0.002;0.234;0.003	B;B;B;B	0.31869	0.025;0.022;0.137;0.038	D	0.87571	0.2478	10	0.72032	D	0.01	.	7.5742	0.27926	0.0:0.8868:0.0:0.1132	.	476;474;463;463	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	L	463;463;476;433;207;474	ENSP00000302397:R463L;ENSP00000411503:R463L;ENSP00000444688:R476L;ENSP00000437577:R474L	ENSP00000302397:R463L	R	-	2	0	ATP1A3	47177543	0.261000	0.24063	0.961000	0.40146	0.992000	0.81027	1.374000	0.34283	2.449000	0.82847	0.561000	0.74099	CGC		0.552	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		A	42485703	C	A	42485703	3	1	622	1	0	0	0	0	1	0	0	0	1130	768	27	4	1705	4	ATP1A3	19	42485703	Missense_Mutation	SNP	C	TCGA-DW-7838-01A-11D-2136-08	9555590	42485703	16643280	73	33905											
ZNF473	25888	hgsc.bcm.edu	37	19	50550199	50550199	+	Silent	SNP	G	G	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr19:50550199G>T	ENST00000595661.1	+	6	2994	c.2499G>T	c.(2497-2499)ctG>ctT	p.L833L	ZNF473_ENST00000445728.3_Silent_p.L821L|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.L833L|ZNF473_ENST00000391821.2_Silent_p.L833L|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	833					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACCAGCACCTGAGAGTTCACA	0.517											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													68	71	70					19																	50550199		2203	4300	6503	SO:0001819	synonymous_variant	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2499G>T	chr19.hg19:g.50550199G>T		970	A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	hg19	CCDS33077.1																																																																																				0.517	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		T	50550199	G	T	50550199	2	4	622	1	0	0	0	0	0	0	0	1	17936	1277	45	4		4	ZNF473	19	50550199	Silent	SNP	G	TCGA-DW-7838-01A-11D-2136-08	8064496	50550199	8578784	74	33906											
ZNF28	7576	hgsc.bcm.edu	37	19	53303801	53303801	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr19:53303801G>C	ENST00000457749.2	-	4	1416	c.1297C>G	c.(1297-1299)Cac>Gac	p.H433D	ZNF28_ENST00000360272.4_Missense_Mutation_p.H380D|ZNF28_ENST00000414252.2_Missense_Mutation_p.H380D|ZNF28_ENST00000438150.2_Missense_Mutation_p.H380D	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H380Y(2)|p.H433Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCTCCAGTGTGAATTATACTA	0.373																																																3	Substitution - Missense(3)	breast(3)											113	120	118					19																	53303801		2203	4300	6503	SO:0001583	missense	7576			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1297C>G	chr19.hg19:g.53303801G>C	ENSP00000397693:p.His433Asp		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	hg19	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	14.52	2.559448	0.45590	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	1.74	0.624	0.17659	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84433	0.5471	H	0.96460	3.825	0.27520	N	0.951416	D	0.63880	0.993	D	0.79784	0.993	T	0.73257	-0.4040	9	0.87932	D	0	.	6.9561	0.24572	0.1616:0.0:0.8384:0.0	.	433	P17035	ZNF28_HUMAN	D	380;433;380;380;380	ENSP00000412143:H380D;ENSP00000397693:H433D;ENSP00000353410:H380D;ENSP00000444965:H380D;ENSP00000375661:H380D	ENSP00000353410:H380D	H	-	1	0	ZNF28	57995613	1.000000	0.71417	0.003000	0.11579	0.128000	0.20619	4.471000	0.60182	0.072000	0.16694	0.186000	0.17326	CAC		0.373	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		C	53303801	G	C	53303801	3	2	622	1	0	0	0	0	1	0	0	0	17818	1290	45	4	863	4	ZNF28	19	53303801	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08	2753602	53303801	5825182	75	33907											
FCAR	2204	hgsc.bcm.edu	37	19	55401195	55401196	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr19:55401195_55401196TG>GT	ENST00000355524.3	+	5	840_841	c.830_831TG>GT	c.(829-831)tTG>tGT	p.L277C	FCAR_ENST00000353758.4_Missense_Mutation_p.L168C|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.L181C|FCAR_ENST00000391725.3_Missense_Mutation_p.L255C|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Missense_Mutation_p.L243C|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000359272.4_Missense_Mutation_p.L265C|FCAR_ENST00000391726.3_Missense_Mutation_p.L169C	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	277					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAGCCAGGATTGACCTTTGCAC	0.525																																																0																																										SO:0001583	missense	2204			X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	Exception_encountered	chr19.hg19:g.55401195_55401196delinsGT	ENSP00000347714:p.Leu277Cys		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	hg19	CCDS12907.1																																																																																				0.525	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		GT	55401196	TG	GT	55401195	3	3	622	1	0	0	0	0	1	0	0	0	5775	1821	63	5	919	5	FCAR	19	55401195	Missense_Mutation	DNP	TG	TCGA-DW-7838-01A-11D-2136-08	2097394	55401195	3727788	76	33908											
HIRA	7290	hgsc.bcm.edu	37	22	19393327	19393327	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chr22:19393327G>T	ENST00000263208.5	-	5	635	c.379C>A	c.(379-381)Ctc>Atc	p.L127I	HIRA_ENST00000546308.1_Missense_Mutation_p.L83I|HIRA_ENST00000340170.4_Missense_Mutation_p.L127I|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_Missense_Mutation_p.L83I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	127					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TGATTCCGGAGGATAGAGACA	0.612																																																0													86	70	76					22																	19393327		2203	4300	6503	SO:0001583	missense	7290			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.379C>A	chr22.hg19:g.19393327G>T	ENSP00000263208:p.Leu127Ile		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	hg19	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907418	0.92107	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80502	0.4635	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.986;1.0	T	0.82592	-0.0381	10	0.87932	D	0	-14.4293	18.1731	0.89753	0.0:0.0:1.0:0.0	.	127;127	P54198-2;P54198	.;HIRA_HUMAN	I	127;127;83;83	ENSP00000345350:L127I;ENSP00000263208:L127I;ENSP00000446073:L83I;ENSP00000441870:L83I	ENSP00000263208:L127I	L	-	1	0	HIRA	17773327	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.187000	0.77730	2.519000	0.84933	0.563000	0.77884	CTC		0.612	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		T	19393327	G	T	19393327	3	4	622	1	0	0	0	0	1	0	0	0	7122	1000	35	4	2758	4	HIRA	22	19393327	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08		19393327	31911239	77	33909											
PAK3	5063	hgsc.bcm.edu	37	X	110366494	110366494	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7838-01A-11D-2136-08	TCGA-DW-7838-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7897a3f-6f47-41e8-b9b6-29bceb9d3c54	a0033479-cc47-403c-a95a-2fca2634ddbf	g.chrX:110366494G>A	ENST00000372010.1	+	5	605	c.163G>A	c.(163-165)Gga>Aga	p.G55R	PAK3_ENST00000262836.4_Missense_Mutation_p.G55R|PAK3_ENST00000518291.1_Missense_Mutation_p.G55R|PAK3_ENST00000446737.1_Missense_Mutation_p.G55R|PAK3_ENST00000417227.1_Missense_Mutation_p.G55R|PAK3_ENST00000360648.4_Missense_Mutation_p.G55R|PAK3_ENST00000425146.1_Missense_Mutation_p.G55R|PAK3_ENST00000519681.1_Missense_Mutation_p.G55R|PAK3_ENST00000372007.5_Missense_Mutation_p.G55R			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	55					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTCCCAGGAGGAGGGGATAA	0.448										TSP Lung(19;0.15)																																						0													70	69	70					X																	110366494		2203	4300	6503	SO:0001583	missense	5063			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.163G>A	chrX.hg19:g.110366494G>A	ENSP00000361080:p.Gly55Arg		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	hg19	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257186	0.59321	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.71461	-0.55;-0.55;-0.57;-0.56;-0.55;-0.54;-0.54;-0.56;-0.57	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	L	0.29908	0.895	0.80722	D	1	P;P;B;B	0.43607	0.801;0.812;0.399;0.037	P;P;B;B	0.48454	0.578;0.578;0.194;0.049	T	0.64322	-0.6435	10	0.22706	T	0.39	.	18.4314	0.90627	0.0:0.0:1.0:0.0	.	55;55;55;55	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	R	55	ENSP00000410853:G55R;ENSP00000401982:G55R;ENSP00000361080:G55R;ENSP00000429113:G55R;ENSP00000361077:G55R;ENSP00000428921:G55R;ENSP00000353864:G55R;ENSP00000389172:G55R;ENSP00000262836:G55R	ENSP00000262836:G55R	G	+	1	0	PAK3	110253150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.143000	0.94623	2.380000	0.81148	0.600000	0.82982	GGA		0.448	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		A	110366494	G	A	110366494	3	1	622	1	0	0	0	0	1	0	0	0	11404	1001	35	2	165	2	PAK3	23	110366494	Missense_Mutation	SNP	G	TCGA-DW-7838-01A-11D-2136-08		110366494	44904066	78	33910											
COL11A1	1301	hgsc.bcm.edu	37	1	103400626	103400626	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr1:103400626delG	ENST00000370096.3	-	45	3794	c.3482delC	c.(3481-3483)cctfs	p.P1161fs	COL11A1_ENST00000358392.2_Frame_Shift_Del_p.P1173fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.P1045fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.P1122fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1161	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGCAATTCCAGGGGCACCAAC	0.448																																																0													37	39	38					1																	103400626		2203	4300	6503	SO:0001589	frameshift_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3482delC	chr1.hg19:g.103400626delG	ENSP00000359114:p.Pro1161fs		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	ENST00000370096.3	hg19	CCDS778.1																																																																																				0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		-	103400626	G	-	103400626	7	5	623	1	0	1	0	1	0	0	0	0	3669	1000	35	0	2030	0	COL11A1	1	103400626	Frame_Shift_Del	DEL	G	TCGA-DW-7839-01A-11D-2136-08		103400626	145849995	1	33911											
CR1L	1379	hgsc.bcm.edu	37	1	207818592	207818592	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr1:207818592T>G	ENST00000508064.2	+	1	74	c.14T>G	c.(13-15)gTc>gGc	p.V5G		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	5						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCGCCTCCCGTCCGTCTCGAG	0.657																																																0													62	68	66					1																	207818592		2203	4300	6503	SO:0001583	missense	1379			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.14T>G	chr1.hg19:g.207818592T>G	ENSP00000421736:p.Val5Gly		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	hg19	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304420	0.23736	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.32023	1.47	2.95	-5.9	0.02275	.	.	.	.	.	T	0.04952	0.0133	N	0.00436	-1.5	0.09310	N	1	P	0.41475	0.751	B	0.36989	0.238	T	0.23404	-1.0189	9	0.16420	T	0.52	.	0.9185	0.01310	0.2027:0.1365:0.2268:0.434	.	5	Q2VPA4	CR1L_HUMAN	G	5	ENSP00000421736:V5G	ENSP00000437875:V5G	V	+	2	0	CR1L	205885215	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.381000	0.01065	-1.286000	0.02384	-1.304000	0.01323	GTC		0.657	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		G	207818592	T	G	207818592	3	3	623	1	0	0	0	0	1	0	0	0	3843	1667	58	5	16	5	CR1L	1	207818592	Missense_Mutation	SNP	T	TCGA-DW-7839-01A-11D-2136-08	104417966	207818592	41432029	2	33912											
C1orf35	79169	hgsc.bcm.edu	37	1	228290925	228290925	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr1:228290925A>C	ENST00000272139.4	-	1	238	c.4T>G	c.(4-6)Ttc>Gtc	p.F2V	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	2							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CTGGAGCCGAACATGGCGCCG	0.682																																																0													30	31	31					1																	228290925		2201	4299	6500	SO:0001583	missense	79169			AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"multiple myeloma tumor-associated protein 2"					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.4T>G	chr1.hg19:g.228290925A>C	ENSP00000272139:p.Phe2Val		Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Missense_Mutation	SNP	ENST00000272139.4	hg19	CCDS1566.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.510193	0.64522	.	.	ENSG00000143793	ENST00000272139	.	.	.	3.88	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.62723	1.935	0.53005	D	0.999965	D	0.58268	0.982	P	0.52554	0.702	T	0.61207	-0.7109	9	0.66056	D	0.02	-15.7163	8.1877	0.31348	0.8997:0.0:0.1003:0.0	.	2	Q9BU76	MMTA2_HUMAN	V	2	.	ENSP00000272139:F2V	F	-	1	0	C1orf35	226357548	1.000000	0.71417	0.996000	0.52242	0.219000	0.24729	6.640000	0.74319	0.548000	0.28955	0.254000	0.18369	TTC		0.682	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1	NM_024319		C	228290925	A	C	228290925	3	2	623	1	0	0	0	0	1	0	0	0	2040	43	2	5	819	5	C1orf35	1	228290925	Missense_Mutation	SNP	A	TCGA-DW-7839-01A-11D-2136-08	20472333	228290925	20959696	3	33913											
ALMS1	7840	hgsc.bcm.edu	37	2	73827935	73827935	+	Silent	SNP	T	T	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr2:73827935T>C	ENST00000264448.6	+	18	11907	c.11796T>C	c.(11794-11796)cgT>cgC	p.R3932R	ALMS1_ENST00000409009.1_Silent_p.R3890R	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3932					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAAAAACGTGAAGAGAAAA	0.408																																																0													91	92	91					2																	73827935		2203	4300	6503	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11796T>C	chr2.hg19:g.73827935T>C			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	hg19	CCDS42697.1																																																																																				0.408	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		C	73827935	T	C	73827935	2	2	623	1	0	0	0	0	0	0	0	1	535	1683	59	3		3	ALMS1	2	73827935	Silent	SNP	T	TCGA-DW-7839-01A-11D-2136-08		73827935	169371438	4	33914											
SPAG16	79582	hgsc.bcm.edu	37	2	214161997	214161997	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr2:214161997C>G	ENST00000331683.5	+	3	290	c.195C>G	c.(193-195)gaC>gaG	p.D65E	SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000432529.2_Missense_Mutation_p.D65E|SPAG16_ENST00000447990.1_Missense_Mutation_p.D65E|SPAG16_ENST00000413312.1_Missense_Mutation_p.D34E|SPAG16_ENST00000272898.7_Missense_Mutation_p.D65E|SPAG16_ENST00000374309.3_Missense_Mutation_p.T11R	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	65					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TACCAGATGACAATTTTAGCA	0.358																																																0													79	82	81					2																	214161997		2203	4300	6503	SO:0001583	missense	79582			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.195C>G	chr2.hg19:g.214161997C>G	ENSP00000332592:p.Asp65Glu		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	hg19	CCDS2396.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.42|12.42	1.932017|1.932017	0.34096|0.34096	.|.	.|.	ENSG00000144451|ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990|ENST00000374309	T|T	0.57752|0.58210	0.38|0.35	5.7|5.7	1.2|1.2	0.21068|0.21068	.|.	0.071260|.	0.51477|.	D|.	0.000088|.	T|T	0.40322|0.40322	0.1112|0.1112	L|L	0.41632|0.41632	1.29|1.29	0.23309|0.23309	N|N	0.997933|0.997933	P;P;B;P;B|B;B	0.43287|0.12013	0.75;0.802;0.036;0.734;0.06|0.001;0.005	B;B;B;B;B|B;B	0.43478|0.17433	0.168;0.137;0.014;0.421;0.082|0.002;0.018	T|T	0.37709|0.37709	-0.9694|-0.9694	10|9	0.52906|0.87932	T|D	0.07|0	.|.	5.0287|5.0287	0.14398|0.14398	0.0:0.4882:0.1541:0.3577|0.0:0.4882:0.1541:0.3577	.|.	34;5;65;65;65|11;2	Q8N0X2-3;Q4G1A2;Q8N0X2;E7EWV3;Q8N0X2-4|B4DYB5;Q8N0X2-2	.;.;SPG16_HUMAN;.;.|.;.	E|R	65;65;34;65;65|11	ENSP00000332592:D65E|ENSP00000363428:T11R	ENSP00000272898:D65E|ENSP00000363428:T11R	D|T	+|+	3|2	2|0	SPAG16|SPAG16	213870242|213870242	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.625000|0.625000	0.37756|0.37756	0.625000|0.625000	0.24477|0.24477	0.022000|0.022000	0.15160|0.15160	-1.151000|-1.151000	0.01829|0.01829	GAC|ACA		0.358	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		G	214161997	C	G	214161997	3	3	623	1	0	0	0	0	1	0	0	0	14984	477	17	4	205	4	SPAG16	2	214161997	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08	140334062	214161997	29037376	5	33915											
XRN1	54464	hgsc.bcm.edu	37	3	142141567	142141567	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr3:142141567A>T	ENST00000264951.4	-	8	941	c.824T>A	c.(823-825)aTt>aAt	p.I275N	RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000544157.1_Missense_Mutation_p.I65N|XRN1_ENST00000392981.2_Missense_Mutation_p.I275N|XRN1_ENST00000463916.1_Missense_Mutation_p.I275N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	275					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TATCCTTTCAATATCATATTT	0.323																																																0													70	77	75					3																	142141567		2202	4299	6501	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.824T>A	chr3.hg19:g.142141567A>T	ENSP00000264951:p.Ile275Asn		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	hg19	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466391	0.84425	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157;ENST00000477237	T;T	0.34472	1.36;1.36	5.69	5.69	0.88448	.	0.163395	0.56097	D	0.000029	T	0.60301	0.2258	M	0.77103	2.36	0.54753	D	0.999985	D;P;D;D;P	0.56968	0.978;0.879;0.963;0.96;0.932	D;P;P;P;P	0.65323	0.934;0.754;0.615;0.782;0.492	T	0.63033	-0.6727	10	0.51188	T	0.08	-19.9739	15.9662	0.79974	1.0:0.0:0.0:0.0	.	65;275;136;275;275	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	N	275;275;275;65;136	ENSP00000264951:I275N;ENSP00000376707:I275N	ENSP00000264951:I275N	I	-	2	0	XRN1	143624257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.930000	0.92872	2.171000	0.68590	0.528000	0.53228	ATT		0.323	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		T	142141567	A	T	142141567	3	4	623	1	0	0	0	0	1	0	0	0	17464	101	4	5	4436	5	XRN1	3	142141567	Missense_Mutation	SNP	A	TCGA-DW-7839-01A-11D-2136-08		142141567	55880863	6	33916											
SLBP	7884	hgsc.bcm.edu	37	4	1701385	1701385	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr4:1701385C>G	ENST00000489418.1	-	5	751	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	SLBP_ENST00000318386.4_Missense_Mutation_p.E136Q|SLBP_ENST00000488267.1_Missense_Mutation_p.E94Q|SLBP_ENST00000429429.2_Missense_Mutation_p.E90Q	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	129	RNA-binding.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA transport (GO:0051028)|nuclear cell cycle DNA replication (GO:0033260)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	histone pre-mRNA DCP binding (GO:0071208)|histone pre-mRNA stem-loop binding (GO:0071207)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TCATCTGTCTCAAAGTCAGCC	0.398																																																0													126	117	120					4																	1701385		2203	4300	6503	SO:0001583	missense	7884			Z71188	CCDS3350.1	4p16.3	2008-02-11	2008-02-11		ENSG00000163950	ENSG00000163950			10904	protein-coding gene	gene with protein product	"histone binding protein"	602422	"stem-loop (histone) binding protein"			9049306, 1338771	Standard	NM_006527		Approved	HBP	uc003gdi.1	Q14493	OTTHUMG00000089349	ENST00000489418.1:c.385G>C	chr4.hg19:g.1701385C>G	ENSP00000417686:p.Glu129Gln		B3KRJ5	Missense_Mutation	SNP	ENST00000489418.1	hg19	CCDS3350.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	29.7|29.7|29.7	5.030846|5.030846|5.030846	0.93575|0.93575|0.93575	.|.|.	.|.|.	ENSG00000163950|ENSG00000163950|ENSG00000163950	ENST00000429429;ENST00000489418;ENST00000460392;ENST00000318386;ENST00000488267|ENST00000483348|ENST00000480936	.|.|.	.|.|.	.|.|.	5.08|5.08|5.08	5.08|5.08|5.08	0.68730|0.68730|0.68730	.|.|.	0.103824|.|.	0.64402|.|.	D|.|.	0.000005|.|.	D|D|.	0.84781|0.84781|.	0.5548|0.5548|.	M|M|M	0.89534|0.89534|0.89534	3.04|3.04|3.04	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P;D;D;D|.|.	0.89917|.|.	1.0;0.915;0.985;0.985;0.985|.|.	D;P;P;P;P|.|.	0.91635|.|.	0.999;0.653;0.804;0.804;0.804|.|.	D|D|.	0.87783|0.87783|.	0.2613|0.2613|.	9|5|.	0.72032|.|.	D|.|.	0.01|.|.	-9.2509|-9.2509|-9.2509	18.53|18.53|18.53	0.90987|0.90987|0.90987	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	94;136;90;109;129|.|.	E7EUV9;F8W8D3;B3KRJ5;C9IY53;Q14493|.|.	.;.;.;.;SLBP_HUMAN|.|.	Q|F|S	90;129;109;136;94|83|136	.|.|.	ENSP00000316490:E136Q|.|.	E|L|X	-|-|-	1|3|2	0|2|2	SLBP|SLBP|SLBP	1671183|1671183|1671183	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.949000|0.949000|0.949000	0.38748|0.38748|0.38748	0.969000|0.969000|0.969000	0.65631|0.65631|0.65631	7.142000|7.142000|7.142000	0.77339|0.77339|0.77339	2.382000|2.382000|2.382000	0.81193|0.81193|0.81193	0.644000|0.644000|0.644000	0.83932|0.83932|0.83932	GAG|TTG|TGA		0.398	SLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203176.1	NM_006527		G	1701385	C	G	1701385	3	3	623	1	0	0	0	0	1	0	0	0	14378	835	29	4	443	4	SLBP	4	1701385	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08		1701385	189452891	7	33917											
BOD1L	259282	hgsc.bcm.edu	37	4	13604361	13604361	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr4:13604361C>T	ENST00000040738.5	-	10	4298	c.4163G>A	c.(4162-4164)aGt>aAt	p.S1388N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1388						nucleus (GO:0005634)	DNA binding (GO:0003677)										CGTTAACTTACTTCCAAGAGG	0.418																																																0													139	134	135					4																	13604361		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4163G>A	chr4.hg19:g.13604361C>T	ENSP00000040738:p.Ser1388Asn		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	hg19	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880637	0.17467	.	.	ENSG00000038219	ENST00000040738	T	0.06768	3.26	5.02	0.266	0.15617	.	0.228445	0.31577	N	0.007419	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.34775	-0.9815	10	0.38643	T	0.18	0.0109	6.4855	0.22087	0.0:0.5089:0.1283:0.3629	.	1388	Q8NFC6	BOD1L_HUMAN	N	1388	ENSP00000040738:S1388N	ENSP00000040738:S1388N	S	-	2	0	BOD1L	13213459	0.008000	0.16893	0.000000	0.03702	0.002000	0.02628	0.472000	0.22116	0.111000	0.17947	-0.136000	0.14681	AGT		0.418	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		T	13604361	C	T	13604361	3	4	623	1	0	0	0	0	1	0	0	0	1483	565	20	2	5060	2	BOD1L	4	13604361	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08	11902976	13604361	177549915	8	33918											
GRIA1	2890	hgsc.bcm.edu	37	5	153078528	153078528	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr5:153078528C>G	ENST00000285900.5	+	10	1690	c.1347C>G	c.(1345-1347)caC>caG	p.H449Q	GRIA1_ENST00000521843.2_Missense_Mutation_p.H380Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.H459Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.H369Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.H459Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.H449Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	449					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTGCCAAGCACGTGGGCTACT	0.537																																																0													110	98	102					5																	153078528		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1347C>G	chr5.hg19:g.153078528C>G	ENSP00000285900:p.His449Gln		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	hg19	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955998	0.53293	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.37584	1.8;1.8;1.19;1.8;1.8;1.8;1.19	5.44	-4.24	0.03777	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.55103	1.725	0.58432	D	0.999994	D;D;B;D;D;D	0.56521	0.976;0.976;0.012;0.976;0.971;0.962	P;P;B;P;P;P	0.59761	0.82;0.863;0.018;0.82;0.726;0.849	T	0.44997	-0.9291	10	0.44086	T	0.13	.	15.008	0.71527	0.0:0.6256:0.0:0.3744	.	459;459;369;459;449;449	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	Q	449;449;369;403;449;380;380;459;459	ENSP00000285900:H449Q;ENSP00000427920:H369Q;ENSP00000339343:H449Q;ENSP00000427864:H380Q;ENSP00000442108:H380Q;ENSP00000428994:H459Q;ENSP00000415569:H459Q	ENSP00000285900:H449Q	H	+	3	2	GRIA1	153058721	0.000000	0.05858	0.981000	0.43875	0.975000	0.68041	-1.954000	0.01525	-0.842000	0.04195	-0.794000	0.03295	CAC		0.537	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			G	153078528	C	G	153078528	3	3	623	1	0	0	0	0	1	0	0	0	6769	535	19	4	1385	4	GRIA1	5	153078528	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08		153078528	27836732	9	33919											
PTK7	5754	hgsc.bcm.edu	37	6	43044271	43044271	+	Silent	SNP	T	T	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr6:43044271T>G	ENST00000230419.4	+	1	266	c.45T>G	c.(43-45)ccT>ccG	p.P15P	PTK7_ENST00000349241.2_Silent_p.P15P|PTK7_ENST00000481273.1_5'Flank|PTK7_ENST00000352931.2_Silent_p.P15P|PTK7_ENST00000471863.1_Silent_p.P15P|PTK7_ENST00000345201.2_Silent_p.P15P|RP11-387M24.5_ENST00000606123.1_RNA|PTK7_ENST00000476760.1_Silent_p.P15P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	15					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCCGGTTGCCTCTGCTCAGCG	0.716																																																0													7	10	9					6																	43044271		2101	4167	6268	SO:0001819	synonymous_variant	5754			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.45T>G	chr6.hg19:g.43044271T>G			A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	hg19	CCDS4884.1																																																																																				0.716	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			G	43044271	T	G	43044271	2	3	623	1	0	0	0	0	0	0	0	1	12771	1538	54	5		5	PTK7	6	43044271	Silent	SNP	T	TCGA-DW-7839-01A-11D-2136-08		43044271	128070796	10	33920											
SP8	221833	hgsc.bcm.edu	37	7	20824956	20824956	+	Silent	SNP	C	C	G	rs201180283		TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr7:20824956C>G	ENST00000361443.4	-	3	663	c.426G>C	c.(424-426)ggG>ggC	p.G142G	SP8_ENST00000418710.2_Silent_p.G160G	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	142					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						cgccgccgcccccgccgccgc	0.741																																																0													2	2	2					7																	20824956		542	1367	1909	SO:0001819	synonymous_variant	221833				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.426G>C	chr7.hg19:g.20824956C>G			Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	hg19	CCDS5372.1																																																																																				0.741	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			G	20824956	C	G	20824956	2	3	623	1	0	0	0	0	0	0	0	1	14976	610	22	4		4	SP8	7	20824956	Silent	SNP	C	TCGA-DW-7839-01A-11D-2136-08		20824956	138313707	11	33921											
HNRNPA2B1	3181	hgsc.bcm.edu	37	7	26235509	26235509	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr7:26235509C>T	ENST00000354667.4	-	8	883	c.715G>A	c.(715-717)Gga>Aga	p.G239R	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G227R	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	239	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCCCCAAATCCACGTCCACTG	0.378			T	ETV1	prostate																																		Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	0													110	94	100					7																	26235509		2203	4300	6503	SO:0001583	missense	3181			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"RNA binding motif (RRM) containing"	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.715G>A	chr7.hg19:g.26235509C>T	ENSP00000346694:p.Gly239Arg		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	hg19	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379588	0.61845	.	.	ENSG00000122566	ENST00000354667;ENST00000356674	D;D	0.86627	-2.15;-2.15	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000002	D	0.89015	0.6595	M	0.65677	2.01	0.40149	D	0.976921	D;D	0.56968	0.978;0.963	P;B	0.48524	0.58;0.376	D	0.86218	0.1629	10	0.20046	T	0.44	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	227;239	P22626-2;P22626	.;ROA2_HUMAN	R	239;227	ENSP00000346694:G239R;ENSP00000349101:G227R	ENSP00000346694:G239R	G	-	1	0	HNRNPA2B1	26202034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.505000	0.60421	2.794000	0.96219	0.650000	0.86243	GGA		0.378	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		T	26235509	C	T	26235509	3	4	623	1	0	0	0	0	1	0	0	0	7261	603	21	2	362	2	HNRNPA2B1	7	26235509	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08	5410553	26235509	132903154	12	33922											
SAMD9	54809	hgsc.bcm.edu	37	7	92734994	92734994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr7:92734994delT	ENST00000379958.2	-	3	686	c.417delA	c.(415-417)aaafs	p.K139fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	139						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGCTCAACTTTTAGTGACT	0.358																																																0													124	134	130					7																	92734994		2203	4300	6503	SO:0001589	frameshift_variant	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.417delA	chr7.hg19:g.92734994delT	ENSP00000369292:p.Lys139fs		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Frame_Shift_Del	DEL	ENST00000379958.2	hg19	CCDS34680.1																																																																																				0.358	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		-	92734994	T	-	92734994	7	5	623	1	0	1	0	1	0	0	0	0	13832	1606	56	0	4356	0	SAMD9	7	92734994	Frame_Shift_Del	DEL	T	TCGA-DW-7839-01A-11D-2136-08	66499485	92734994	66403669	13	33923											
MGAM	8972	hgsc.bcm.edu	37	7	141731533	141731533	+	Silent	SNP	T	T	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr7:141731533T>G	ENST00000549489.2	+	13	1619	c.1524T>G	c.(1522-1524)gtT>gtG	p.V508V	MGAM_ENST00000475668.2_Silent_p.V508V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	508	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTGTGCTGTTTGGTGGACAA	0.363																																																0													169	157	161					7																	141731533		1835	4091	5926	SO:0001819	synonymous_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1524T>G	chr7.hg19:g.141731533T>G			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	hg19	CCDS47727.1																																																																																				0.363	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			G	141731533	T	G	141731533	2	3	623	1	0	0	0	0	0	0	0	1	9543	1828	64	5		5	MGAM	7	141731533	Silent	SNP	T	TCGA-DW-7839-01A-11D-2136-08	48996539	141731533	17407130	14	33924											
TAS2R41	259287	hgsc.bcm.edu	37	7	143175477	143175477	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr7:143175477A>T	ENST00000408916.1	+	1	512	c.512A>T	c.(511-513)aAg>aTg	p.K171M	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	171					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ATGACCTACAAGTGGAATACA	0.358																																																0													65	63	63					7																	143175477		1827	4093	5920	SO:0001583	missense	259287			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.512A>T	chr7.hg19:g.143175477A>T	ENSP00000386201:p.Lys171Met		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	hg19	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	A	2.606	-0.291927	0.05568	.	.	ENSG00000221855	ENST00000408916	T	0.00824	5.65	5.79	3.37	0.38596	.	2.257240	0.02520	U	0.092493	T	0.01454	0.0047	L	0.49571	1.57	0.09310	N	1	B	0.32573	0.376	B	0.26202	0.067	T	0.48115	-0.9063	10	0.41790	T	0.15	.	6.5138	0.22236	0.6261:0.2953:0.0786:0.0	.	171	P59536	T2R41_HUMAN	M	171	ENSP00000386201:K171M	ENSP00000386201:K171M	K	+	2	0	TAS2R41	142885599	0.000000	0.05858	0.119000	0.21687	0.009000	0.06853	0.535000	0.23114	1.000000	0.39049	0.533000	0.62120	AAG		0.358	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			T	143175477	A	T	143175477	3	4	623	1	0	0	0	0	1	0	0	0	15584	72	3	5	514	5	TAS2R41	7	143175477	Missense_Mutation	SNP	A	TCGA-DW-7839-01A-11D-2136-08	1443944	143175477	15963186	15	33925											
LRRC14	9684	hgsc.bcm.edu	37	8	145746824	145746825	+	Frame_Shift_Del	DEL	AT	AT	-	rs571447719		TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr8:145746824_145746825delAT	ENST00000292524.1	+	4	1590_1591	c.1444_1445delAT	c.(1444-1446)atcfs	p.I482fs	LRRC14_ENST00000529022.1_Frame_Shift_Del_p.I482fs	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	482										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GACCACGGACATCTACGGGCGA	0.589																																																0																																										SO:0001589	frameshift_variant	9684			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1444_1445delAT	chr8.hg19:g.145746824_145746825delAT	ENSP00000292524:p.Ile482fs		A8K0A8|D3DWM8	Frame_Shift_Del	DEL	ENST00000292524.1	hg19	CCDS6432.1																																																																																				0.589	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		-	145746825	AT	-	145746824	7	5	623	1	0	1	0	1	0	0	0	0	8970	217	8	0	1454	0	LRRC14	8	145746824	Frame_Shift_Del	DEL	AT	TCGA-DW-7839-01A-11D-2136-08		145746824	617198	16	33926											
DENND4C	55667	hgsc.bcm.edu	37	9	19316719	19316719	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr9:19316719A>T	ENST00000380432.2	+	8	1014	c.981A>T	c.(979-981)caA>caT	p.Q327H	DENND4C_ENST00000602925.1_Missense_Mutation_p.Q563H|DENND4C_ENST00000434457.2_Missense_Mutation_p.Q563H			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	327	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGGAAATTCAAGAGGCATTTT	0.403																																																0													121	135	130					9																	19316719		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.981A>T	chr9.hg19:g.19316719A>T	ENSP00000369797:p.Gln327His		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	hg19		.	.	.	.	.	.	.	.	.	.	A	16.63	3.176330	0.57692	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.98	-1.92	0.07618	dDENN (3);	0.051808	0.85682	D	0.000000	T	0.75547	0.3864	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75616	-0.3256	9	0.87932	D	0	-12.7766	11.8182	0.52224	0.5022:0.0:0.4978:0.0	.	327	Q5VZ89	DEN4C_HUMAN	H	327	.	ENSP00000369802:Q327H	Q	+	3	2	DENND4C	19306719	0.437000	0.25593	0.989000	0.46669	0.789000	0.44602	-0.194000	0.09559	-0.503000	0.06586	-0.561000	0.04177	CAA		0.403	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		T	19316719	A	T	19316719	3	4	623	1	0	0	0	0	1	0	0	0	4437	69	3	5	1011	5	DENND4C	9	19316719	Missense_Mutation	SNP	A	TCGA-DW-7839-01A-11D-2136-08		19316719	121896712	17	33927											
DENND1A	57706	hgsc.bcm.edu	37	9	126214605	126214605	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr9:126214605T>C	ENST00000373624.2	-	17	1450	c.1249A>G	c.(1249-1251)Aat>Gat	p.N417D	DENND1A_ENST00000394215.2_Missense_Mutation_p.N387D|DENND1A_ENST00000394219.3_Missense_Mutation_p.N385D|DENND1A_ENST00000542603.1_Missense_Mutation_p.N159D|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Missense_Mutation_p.N417D|DENND1A_ENST00000373618.1_Missense_Mutation_p.N385D	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	417					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TTTACAGTATTCAGAATTGCT	0.413																																																0													173	152	159					9																	126214605		2203	4300	6503	SO:0001583	missense	57706			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1249A>G	chr9.hg19:g.126214605T>C	ENSP00000362727:p.Asn417Asp		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	hg19	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369121	0.82463	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T;T	0.25085	3.28;1.82;3.18;3.32;3.17;3.19	5.47	5.47	0.80525	.	0.093202	0.64402	D	0.000001	T	0.54775	0.1879	M	0.83012	2.62	0.54753	D	0.99998	D;D;D;D;D;D;D	0.76494	0.975;0.975;0.984;0.999;0.984;0.958;0.996	P;P;P;D;P;P;P	0.77557	0.883;0.883;0.84;0.99;0.879;0.767;0.877	T	0.60722	-0.7207	10	0.59425	D	0.04	-17.7065	15.5608	0.76244	0.0:0.0:0.0:1.0	.	385;375;385;387;417;417;237	Q8TEH3-6;Q8TEH3-7;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;.;DEN1A_HUMAN;.	D	417;159;385;417;387;385	ENSP00000362727:N417D;ENSP00000437457:N159D;ENSP00000377766:N385D;ENSP00000362722:N417D;ENSP00000377763:N387D;ENSP00000362720:N385D	ENSP00000362720:N385D	N	-	1	0	DENND1A	125254426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.570000	0.67398	2.076000	0.62316	0.459000	0.35465	AAT		0.413	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		C	126214605	T	C	126214605	3	2	623	1	0	0	0	0	1	0	0	0	4428	1783	62	3	1911	3	DENND1A	9	126214605	Missense_Mutation	SNP	T	TCGA-DW-7839-01A-11D-2136-08	106897886	126214605	14998826	18	33928											
CUBN	8029	hgsc.bcm.edu	37	10	16943441	16943441	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr10:16943441T>C	ENST00000377833.4	-	52	8145	c.8080A>G	c.(8080-8082)Ata>Gta	p.I2694V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2694	CUB 20. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGTCACCTATCTGTATTCCG	0.443																																																0													130	105	114					10																	16943441		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8080A>G	chr10.hg19:g.16943441T>C	ENSP00000367064:p.Ile2694Val		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	6.883	0.532398	0.13127	.	.	ENSG00000107611	ENST00000377833	T	0.17528	2.27	5.63	0.664	0.17890	CUB (5);	0.936616	0.08810	N	0.890473	T	0.08313	0.0207	N	0.17594	0.5	0.32205	N	0.577314	B	0.18310	0.027	B	0.21708	0.036	T	0.42085	-0.9472	10	0.22109	T	0.4	.	0.1187	0.00063	0.2416:0.2042:0.2266:0.3276	.	2694	O60494	CUBN_HUMAN	V	2694	ENSP00000367064:I2694V	ENSP00000367064:I2694V	I	-	1	0	CUBN	16983447	0.835000	0.29415	0.056000	0.19401	0.756000	0.42949	1.368000	0.34216	-0.064000	0.13043	0.477000	0.44152	ATA		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		C	16943441	T	C	16943441	3	2	623	1	0	0	0	0	1	0	0	0	4053	1435	50	3	2855	3	CUBN	10	16943441	Missense_Mutation	SNP	T	TCGA-DW-7839-01A-11D-2136-08		16943441	118591306	19	33929											
NRG3	10718	hgsc.bcm.edu	37	10	83635770	83635770	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr10:83635770C>A	ENST00000404547.1	+	1	674	c.674C>A	c.(673-675)cCt>cAt	p.P225H	NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.P225H|NRG3_ENST00000404576.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	225	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCTCCTGGCCTACTGCGGCA	0.617																																																0													101	80	87					10																	83635770		2203	4300	6503	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.674C>A	chr10.hg19:g.83635770C>A	ENSP00000384796:p.Pro225His		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	hg19	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273875	0.59649	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.33438	1.41;1.43	3.89	3.89	0.44902	.	0.000000	0.45361	D	0.000364	T	0.44074	0.1276	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66847	0.947;0.947	T	0.44050	-0.9353	10	0.87932	D	0	-21.024	13.7841	0.63099	0.0:1.0:0.0:0.0	.	225;225	B9EGV5;P56975-4	.;.	H	225	ENSP00000361214:P225H;ENSP00000384796:P225H	ENSP00000361214:P225H	P	+	2	0	NRG3	83625750	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.474000	0.66781	2.186000	0.69663	0.549000	0.68633	CCT		0.617	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		A	83635770	C	A	83635770	3	1	623	1	0	0	0	0	1	0	0	0	10651	681	24	4	676	4	NRG3	10	83635770	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08	66692329	83635770	51898977	20	33930											
EPS8L2	64787	hgsc.bcm.edu	37	11	723296	723296	+	Nonsense_Mutation	SNP	C	C	A	rs142895363		TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr11:723296C>A	ENST00000533256.1	+	16	1772	c.1397C>A	c.(1396-1398)tCa>tAa	p.S466*	EPS8L2_ENST00000526198.1_Nonsense_Mutation_p.S482*|EPS8L2_ENST00000318562.8_Nonsense_Mutation_p.S466*|EPS8L2_ENST00000530636.1_Nonsense_Mutation_p.S466*|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	466					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCCCACTTCAGAGCCCACC	0.602											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													85	84	85					11																	723296		2203	4300	6503	SO:0001587	stop_gained	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1397C>A	chr11.hg19:g.723296C>A	ENSP00000435585:p.Ser466*	590	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Nonsense_Mutation	SNP	ENST00000533256.1	hg19	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	c	34	5.392509	0.96009	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	.	.	.	2.79	1.87	0.25490	.	3.938280	0.01227	U	0.008254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.7601	7.8157	0.29258	0.0:0.868:0.0:0.132	.	.	.	.	X	466;466;466;482	.	ENSP00000320828:S466X	S	+	2	0	EPS8L2	713296	0.002000	0.14202	0.005000	0.12908	0.020000	0.10135	0.499000	0.22546	0.538000	0.28769	-0.642000	0.03964	TCA		0.602	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		A	723296	C	A	723296	4	1	623	1	0	0	0	0	0	1	0	0	5198	838	29	4	1451	4	EPS8L2	11	723296	Nonsense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08		723296	134283220	21	33931											
SPRYD5	84767	hgsc.bcm.edu	37	11	55658774	55658774	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr11:55658774A>G	ENST00000449290.2	+	7	1117	c.1025A>G	c.(1024-1026)tAt>tGt	p.Y342C	TRIM51_ENST00000244891.3_Missense_Mutation_p.Y199C	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	342	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GGCAAATATTATTGGGAGGTT	0.423																																																0													82	88	86					11																	55658774		2101	4042	6143	SO:0001583	missense	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1025A>G	chr11.hg19:g.55658774A>G	ENSP00000395086:p.Tyr342Cys		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	hg19		.	.	.	.	.	.	.	.	.	.	.	14.48	2.548928	0.45383	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.74947	-0.89;-0.89	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.85561	0.5725	M	0.89715	3.055	0.27185	N	0.960562	D	0.89917	1.0	D	0.97110	1.0	T	0.73235	-0.4047	9	0.87932	D	0	.	5.1325	0.14917	1.0:0.0:0.0:0.0	.	342	Q9BSJ1	SPRY5_HUMAN	C	342;199	ENSP00000395086:Y342C;ENSP00000244891:Y199C	ENSP00000244891:Y199C	Y	+	2	0	SPRYD5	55415350	1.000000	0.71417	0.075000	0.20258	0.398000	0.30690	3.446000	0.52928	0.540000	0.28808	0.136000	0.15936	TAT		0.423	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		G	55658774	A	G	55658774	3	3	623	1	0	0	0	0	1	0	0	0	15116	449	16	3	1047	3	SPRYD5	11	55658774	Missense_Mutation	SNP	A	TCGA-DW-7839-01A-11D-2136-08	54935478	55658774	79347742	22	33932											
B3GNT1	11041	hgsc.bcm.edu	37	11	66114291	66114291	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr11:66114291T>A	ENST00000311181.4	-	1	872	c.726A>T	c.(724-726)gaA>gaT	p.E242D	BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	242					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GATCCAGCATTTCCCGCAGGC	0.612																																																0													75	79	78					11																	66114291		2200	4295	6495	SO:0001583	missense	11041			AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"Beta 3-glycosyltransferases"	15685	protein-coding gene	gene with protein product	"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"	605517	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.726A>T	chr11.hg19:g.66114291T>A	ENSP00000309096:p.Glu242Asp		Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	hg19	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.322423	0.23994	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.22539	1.95	5.29	0.868	0.19090	.	0.396932	0.27876	N	0.017483	T	0.08044	0.0201	N	0.10837	0.055	0.28440	N	0.916866	B	0.13145	0.007	B	0.15052	0.012	T	0.31420	-0.9944	10	0.15066	T	0.55	-16.142	4.6684	0.12676	0.0:0.3853:0.1676:0.4471	.	242	O43505	B3GN1_HUMAN	D	242;13	ENSP00000309096:E242D	ENSP00000309096:E242D	E	-	3	2	B3GNT1	65870867	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.024000	0.13555	0.256000	0.21614	0.379000	0.24179	GAA		0.612	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		A	66114291	T	A	66114291	3	1	623	1	0	0	0	0	1	0	0	0	1256	1838	64	5	529	5	B3GNT1	11	66114291	Missense_Mutation	SNP	T	TCGA-DW-7839-01A-11D-2136-08	10455517	66114291	68892225	23	33933											
PICALM	8301	hgsc.bcm.edu	37	11	85722090	85722090	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr11:85722090A>G	ENST00000393346.3	-	7	896	c.748T>C	c.(748-750)Ttc>Ctc	p.F250L	PICALM_ENST00000526033.1_Missense_Mutation_p.F250L|PICALM_ENST00000532317.1_Missense_Mutation_p.F250L|PICALM_ENST00000356360.5_Missense_Mutation_p.F250L|PICALM_ENST00000528398.1_Missense_Mutation_p.F199L			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	250	Interaction with FAM64A.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				ACTTTGAGGAACTCTGAGATT	0.343			T	"MLLT10, MLL"	"TALL, AML, "																																		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													128	112	118					11																	85722090		2202	4298	6500	SO:0001583	missense	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.748T>C	chr11.hg19:g.85722090A>G	ENSP00000377015:p.Phe250Leu		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	hg19	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	A	34	5.324333	0.95708	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.48	5.48	0.80851	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.991;1.0	D;D;D;D	0.97110	0.994;1.0;0.981;1.0	T	0.80236	-0.1466	9	.	.	.	-19.6257	15.8605	0.79017	1.0:0.0:0.0:0.0	.	199;250;250;250	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	L	250;250;250;250;199;250	ENSP00000436958:F250L;ENSP00000433846:F250L;ENSP00000377015:F250L;ENSP00000434884:F199L;ENSP00000348718:F250L	.	F	-	1	0	PICALM	85399738	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.197000	0.70478	0.533000	0.62120	TTC		0.343	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		G	85722090	A	G	85722090	3	3	623	1	0	0	0	0	1	0	0	0	11882	43	2	3	1294	3	PICALM	11	85722090	Missense_Mutation	SNP	A	TCGA-DW-7839-01A-11D-2136-08	19607799	85722090	49284426	24	33934											
FAT3	120114	hgsc.bcm.edu	37	11	92590392	92590392	+	Missense_Mutation	SNP	C	C	T	rs368909373		TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr11:92590392C>T	ENST00000298047.6	+	19	11395	c.11378C>T	c.(11377-11379)cCg>cTg	p.P3793L	FAT3_ENST00000409404.2_Missense_Mutation_p.P3793L|FAT3_ENST00000525166.1_Missense_Mutation_p.P3643L|FAT3_ENST00000533797.1_Missense_Mutation_p.P128L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3793					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGACTGTGTCCGGGGTCCAAC	0.527										TCGA Ovarian(4;0.039)																																						0								C	LEU/PRO	2,4000		0,2,1999	103	106	105		11378	5.9	0.9	11		105	0,8334		0,0,4167	no	missense	FAT3	NM_001008781.2	98	0,2,6166	TT,TC,CC		0.0,0.05,0.0162	benign	3793/4558	92590392	2,12334	2001	4167	6168	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11378C>T	chr11.hg19:g.92590392C>T	ENSP00000298047:p.Pro3793Leu		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	hg19		.	.	.	.	.	.	.	.	.	.	C	20.7	4.040675	0.75732	5.0E-4	0.0	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.95	5.95	0.96441	.	.	.	.	.	T	0.34832	0.0911	L	0.53249	1.67	0.80722	D	1	D;B	0.59357	0.985;0.399	B;B	0.41271	0.352;0.04	T	0.13045	-1.0524	9	0.51188	T	0.08	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	3793;3793	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	3793;3793;3643;128	ENSP00000298047:P3793L;ENSP00000387040:P3793L;ENSP00000432586:P3643L;ENSP00000436399:P128L	ENSP00000298047:P3793L	P	+	2	0	FAT3	92230040	0.995000	0.38212	0.922000	0.36590	0.908000	0.53690	6.655000	0.74392	2.824000	0.97209	0.655000	0.94253	CCG		0.527	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		T	92590392	C	T	92590392	3	4	623	1	0	0	0	0	1	0	0	0	5693	652	23	1	11452	1	FAT3	11	92590392	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08	6868302	92590392	42416124	25	33935											
PPFIBP1	8496	hgsc.bcm.edu	37	12	27787953	27787953	+	Silent	SNP	T	T	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr12:27787953T>C	ENST00000318304.8	+	4	458	c.175T>C	c.(175-177)Tta>Cta	p.L59L	PPFIBP1_ENST00000545334.1_Silent_p.L59L|PPFIBP1_ENST00000228425.6_Silent_p.L59L|PPFIBP1_ENST00000542629.1_Silent_p.L59L|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000535047.1_Silent_p.L59L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	59					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCGTGGATTGTTAGAGATGAT	0.458																																																0													108	110	110					12																	27787953		2203	4300	6503	SO:0001819	synonymous_variant	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.175T>C	chr12.hg19:g.27787953T>C			O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	hg19	CCDS55812.1																																																																																				0.458	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		C	27787953	T	C	27787953	2	2	623	1	0	0	0	0	0	0	0	1	12315	1722	60	3		3	PPFIBP1	12	27787953	Silent	SNP	T	TCGA-DW-7839-01A-11D-2136-08		27787953	106063942	26	33936											
ARF3	377	hgsc.bcm.edu	37	12	49333834	49333834	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr12:49333834C>G	ENST00000256682.4	-	3	539	c.205G>C	c.(205-207)Ggt>Cgt	p.G69R	ARF3_ENST00000541959.1_Missense_Mutation_p.G69R|AC073610.5_ENST00000537495.1_5'Flank|ARF3_ENST00000541967.1_5'Flank|RP11-302B13.5_ENST00000398092.4_Missense_Mutation_p.G69R|ARF3_ENST00000447318.2_Intron	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	69					GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						TCCTGGCCACCCACATCCCAC	0.502																																					Pancreas(189;1862 2134 4419 30933 49364)											0													198	158	171					12																	49333834		2203	4300	6503	SO:0001583	missense	377			M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"ADP-ribosylation factors"	654	protein-coding gene	gene with protein product	"small GTP binding protein"	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.205G>C	chr12.hg19:g.49333834C>G	ENSP00000256682:p.Gly69Arg		A8K6G8|B7ZB63|P16587	Missense_Mutation	SNP	ENST00000256682.4	hg19	CCDS8774.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243385	0.58995	.	.	ENSG00000134287	ENST00000398092;ENST00000256682;ENST00000541959;ENST00000541236	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	4.72	3.82	0.43975	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96030	0.8707	H	0.99887	4.895	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.97028	0.9748	10	0.87932	D	0	.	13.5059	0.61483	0.1577:0.8423:0.0:0.0	.	69	P61204	ARF3_HUMAN	R	69	ENSP00000438507:G69R;ENSP00000256682:G69R;ENSP00000438510:G69R;ENSP00000438063:G69R	ENSP00000256682:G69R	G	-	1	0	ARF3	47620101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	1.096000	0.41439	0.462000	0.41574	GGT		0.502	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2	NM_001659		G	49333834	C	G	49333834	3	3	623	1	0	0	0	0	1	0	0	0	845	623	22	4	352	4	ARF3	12	49333834	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08	21545881	49333834	84518061	27	33937											
MBD6	114785	hgsc.bcm.edu	37	12	57920964	57920964	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr12:57920964C>T	ENST00000355673.3	+	7	2392	c.2036C>T	c.(2035-2037)gCg>gTg	p.A679V	MBD6_ENST00000431731.2_Missense_Mutation_p.A679V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	679	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTAAATTCTGCGCTGCTGGCT	0.597																																																0													11	12	12					12																	57920964		2195	4290	6485	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2036C>T	chr12.hg19:g.57920964C>T	ENSP00000347896:p.Ala679Val		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	hg19	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737980	0.49045	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	5.2	4.32	0.51571	.	0.738053	0.11966	N	0.512271	T	0.26011	0.0634	N	0.08118	0	0.41634	D	0.989031	P;P	0.45428	0.858;0.675	B;B	0.32928	0.109;0.155	T	0.14643	-1.0465	9	0.66056	D	0.02	-3.2719	12.8722	0.57970	0.0:0.9201:0.0:0.0799	.	679;679	Q6P0P0;Q96DN6	.;MBD6_HUMAN	V	679;679;143	.	ENSP00000300263:A143V	A	+	2	0	MBD6	56207231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.754000	0.47532	1.350000	0.45770	0.561000	0.74099	GCG		0.597	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			T	57920964	C	T	57920964	3	4	623	1	0	0	0	0	1	0	0	0	9350	768	27	1	2054	1	MBD6	12	57920964	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08	8587130	57920964	75930931	28	33938											
MED13L	23389	hgsc.bcm.edu	37	12	116429670	116429670	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr12:116429670G>C	ENST00000281928.3	-	17	3295	c.3089C>G	c.(3088-3090)gCc>gGc	p.A1030G		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1030						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTATTGCTGGCTGGGGCAGC	0.572																																																0													63	55	58					12																	116429670		2203	4300	6503	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3089C>G	chr12.hg19:g.116429670G>C	ENSP00000281928:p.Ala1030Gly		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	hg19	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582626	0.46006	.	.	ENSG00000123066	ENST00000281928	T	0.75260	-0.92	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75019	0.3793	L	0.36672	1.1	0.49915	D	0.999835	D	0.58268	0.982	P	0.49999	0.628	T	0.75639	-0.3248	10	0.51188	T	0.08	.	19.6873	0.95984	0.0:0.0:1.0:0.0	.	1030	Q71F56	MD13L_HUMAN	G	1030	ENSP00000281928:A1030G	ENSP00000281928:A1030G	A	-	2	0	MED13L	114914053	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.549000	0.67261	2.890000	0.99128	0.585000	0.79938	GCC		0.572	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			C	116429670	G	C	116429670	3	2	623	1	0	0	0	0	1	0	0	0	9433	1203	42	4	3603	4	MED13L	12	116429670	Missense_Mutation	SNP	G	TCGA-DW-7839-01A-11D-2136-08	58508706	116429670	17422225	29	33939											
STARD13	90627	hgsc.bcm.edu	37	13	33700266	33700266	+	Missense_Mutation	SNP	T	T	G	rs143789881		TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr13:33700266T>G	ENST00000336934.5	-	7	2150	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H	STARD13_ENST00000255486.4_Missense_Mutation_p.Q670H|STARD13_ENST00000399365.3_Missense_Mutation_p.Q560H	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	678	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTGAATACTTTGAGGCAGGG	0.542																																																0													174	146	156					13																	33700266		2203	4300	6503	SO:0001583	missense	90627			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2034A>C	chr13.hg19:g.33700266T>G	ENSP00000338785:p.Gln678His		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	hg19	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399557	0.42512	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.18502	2.21;2.21;2.21	6.17	2.43	0.29744	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.120228	0.64402	D	0.000011	T	0.25827	0.0629	L	0.51914	1.62	0.80722	D	1	D;B;B	0.53745	0.962;0.048;0.129	P;B;B	0.58928	0.848;0.193;0.084	T	0.00970	-1.1496	10	0.40728	T	0.16	.	7.0057	0.24836	0.112:0.6413:0.0:0.2467	.	643;678;670	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	H	560;670;678;670	ENSP00000382300:Q560H;ENSP00000255486:Q670H;ENSP00000338785:Q678H	ENSP00000255486:Q670H	Q	-	3	2	STARD13	32598266	0.993000	0.37304	0.981000	0.43875	0.797000	0.45037	0.424000	0.21330	0.174000	0.19809	-1.082000	0.02213	CAA		0.542	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		G	33700266	T	G	33700266	3	3	623	1	0	0	0	0	1	0	0	0	15261	1838	64	5	1339	5	STARD13	13	33700266	Missense_Mutation	SNP	T	TCGA-DW-7839-01A-11D-2136-08		33700266	81469612	30	33940											
SLC38A6	145389	hgsc.bcm.edu	37	14	61449295	61449295	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr14:61449295A>C	ENST00000267488.4	+	2	291	c.175A>C	c.(175-177)Atg>Ctg	p.M59L	SLC38A6_ENST00000456840.2_Missense_Mutation_p.M36L|SLC38A6_ENST00000554304.1_3'UTR|SLC38A6_ENST00000354886.2_Missense_Mutation_p.M59L|TRMT5_ENST00000261249.6_5'Flank|RP11-193F5.1_ENST00000553946.1_RNA	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	59					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GAATGCCATCATGGGAAGTGG	0.368																																																0													209	187	195					14																	61449295		2203	4300	6503	SO:0001583	missense	145389			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.175A>C	chr14.hg19:g.61449295A>C	ENSP00000267488:p.Met59Leu		C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	hg19	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655540	0.67586	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000526105	T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44	5.63	5.63	0.86233	.	0.149549	0.85682	D	0.000000	T	0.02929	0.0087	L	0.35542	1.07	0.54753	D	0.999988	B;B;B	0.14012	0.009;0.004;0.006	B;B;B	0.15052	0.005;0.01;0.012	T	0.55398	-0.8147	10	0.35671	T	0.21	.	16.1307	0.81436	1.0:0.0:0.0:0.0	.	36;59;59	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	L	59;59;54;36;5	ENSP00000346959:M59L;ENSP00000267488:M59L;ENSP00000395851:M54L;ENSP00000413863:M36L;ENSP00000451244:M5L	ENSP00000267488:M59L	M	+	1	0	SLC38A6	60519048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.794000	0.75135	2.263000	0.75096	0.533000	0.62120	ATG		0.368	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			C	61449295	A	C	61449295	3	2	623	1	0	0	0	0	1	0	0	0	14614	217	8	5	181	5	SLC38A6	14	61449295	Missense_Mutation	SNP	A	TCGA-DW-7839-01A-11D-2136-08		61449295	45900245	31	33941											
HOMER2	9455	hgsc.bcm.edu	37	15	83518619	83518620	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr15:83518619_83518620insT	ENST00000304231.8	-	9	1104_1105	c.912_913insA	c.(910-915)aaagtgfs	p.V305fs	HOMER2_ENST00000399166.2_Frame_Shift_Ins_p.V239fs|HOMER2_ENST00000426485.1_Frame_Shift_Ins_p.V250fs|HOMER2_ENST00000450735.2_Frame_Shift_Ins_p.V294fs	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	305					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						AAGGAACGCACTTTGTCTTCCA	0.505											OREG0023389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	9455			AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.913dupA	chr15.hg19:g.83518622_83518622dupT	ENSP00000305632:p.Val305fs	1222	O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Frame_Shift_Ins	INS	ENST00000304231.8	hg19	CCDS45334.1																																																																																				0.505	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			T	83518620	-	T	83518619	7	5	623	1	0	1	1	0	0	0	0	0	7281	565	20	0	155	0	HOMER2	15	83518619	Frame_Shift_Ins	INS	-	TCGA-DW-7839-01A-11D-2136-08		83518619	19012773	32	33942											
TNRC6A	27327	hgsc.bcm.edu	37	16	24802526	24802526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr16:24802526delG	ENST00000395799.3	+	6	2692	c.2563delG	c.(2563-2565)gatfs	p.D855fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.D855fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	855	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCTGCCAGTGATAACTGGGG	0.478																																																0													80	79	79					16																	24802526		2197	4300	6497	SO:0001589	frameshift_variant	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2563delG	chr16.hg19:g.24802526delG	ENSP00000379144:p.Asp855fs		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	hg19	CCDS10624.2																																																																																				0.478	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		-	24802526	G	-	24802526	7	5	623	1	0	1	0	1	0	0	0	0	16345	1290	45	0	2585	0	TNRC6A	16	24802526	Frame_Shift_Del	DEL	G	TCGA-DW-7839-01A-11D-2136-08		24802526	65552227	33	33943											
ADAD2	161931	hgsc.bcm.edu	37	16	84228944	84228944	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr16:84228944T>A	ENST00000315906.5	+	5	828	c.776T>A	c.(775-777)cTg>cAg	p.L259Q	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.L341Q|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	259					RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						ATCTACAAGCTGGTGGCTCTG	0.677																																																0													13	15	15					16																	84228944		2167	4266	6433	SO:0001583	missense	161931			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.776T>A	chr16.hg19:g.84228944T>A	ENSP00000325153:p.Leu259Gln		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	hg19	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937894	0.52972	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.19938	2.11;2.12	5.22	5.22	0.72569	.	0.300709	0.27618	N	0.018561	T	0.39462	0.1079	L	0.49126	1.545	0.38021	D	0.934833	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.40059	-0.9583	10	0.87932	D	0	-12.5673	11.7794	0.52003	0.0:0.0:0.0:1.0	.	259;341	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	Q	259;341	ENSP00000325153:L259Q;ENSP00000268624:L341Q	ENSP00000268624:L341Q	L	+	2	0	ADAD2	82786445	1.000000	0.71417	0.881000	0.34555	0.081000	0.17604	5.029000	0.64121	2.088000	0.63022	0.528000	0.53228	CTG		0.677	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		A	84228944	T	A	84228944	3	1	623	1	0	0	0	0	1	0	0	0	232	1580	55	5	1044	5	ADAD2	16	84228944	Missense_Mutation	SNP	T	TCGA-DW-7839-01A-11D-2136-08	59426418	84228944	6125809	34	33944											
SREBF1	6720	hgsc.bcm.edu	37	17	17721579	17721579	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr17:17721579T>C	ENST00000261646.5	-	6	1362	c.1178A>G	c.(1177-1179)aAa>aGa	p.K393R	SREBF1_ENST00000355815.4_Missense_Mutation_p.K423R|SREBF1_ENST00000395757.1_Missense_Mutation_p.K139R|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000435530.2_Missense_Mutation_p.K393R|SREBF1_ENST00000338854.5_Missense_Mutation_p.K393R	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	393	Interaction with LMNA. {ECO:0000250}.|Leucine-zipper.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTCACTGCTTTTGTGGACAGC	0.567																																																0													126	105	112					17																	17721579		2203	4300	6503	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1178A>G	chr17.hg19:g.17721579T>C	ENSP00000261646:p.Lys393Arg		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	hg19	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472206	0.84533	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	T;T;T;T;T	0.80738	0.37;0.4;0.4;0.88;-1.41	5.13	2.6	0.31112	Helix-loop-helix DNA-binding (2);	0.049203	0.85682	N	0.000000	D	0.83496	0.5267	L	0.50333	1.59	0.58432	D	0.999998	D;B;D;D	0.89917	0.998;0.402;1.0;1.0	D;B;D;D	0.91635	0.993;0.235;0.997;0.999	T	0.79674	-0.1705	10	0.51188	T	0.08	-4.0837	6.0908	0.19993	0.0:0.1068:0.1545:0.7388	.	393;369;393;423	B0I4X3;B0I4X4;P36956;P36956-4	.;.;SRBP1_HUMAN;.	R	393;423;393;139;230;319;393	ENSP00000345822:K393R;ENSP00000348069:K423R;ENSP00000261646:K393R;ENSP00000379106:K139R;ENSP00000413389:K393R	ENSP00000261646:K393R	K	-	2	0	SREBF1	17662304	0.997000	0.39634	0.970000	0.41538	0.899000	0.52679	2.228000	0.42981	0.187000	0.20147	0.459000	0.35465	AAA		0.567	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		C	17721579	T	C	17721579	3	2	623	1	0	0	0	0	1	0	0	0	15146	1841	64	3	2321	3	SREBF1	17	17721579	Missense_Mutation	SNP	T	TCGA-DW-7839-01A-11D-2136-08		17721579	63473631	35	33945											
ERBB2	2064	hgsc.bcm.edu	37	17	37880219	37880220	+	Missense_Mutation	DNP	TT	TT	CC	rs121913470|rs121913469		TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr17:37880219_37880220TT>CC	ENST00000269571.5	+	19	2422_2423	c.2263_2264TT>CC	c.(2263-2265)TTg>CCg	p.L755P	ERBB2_ENST00000541774.1_Missense_Mutation_p.L740P|ERBB2_ENST00000445658.2_Missense_Mutation_p.L479P|ERBB2_ENST00000584601.1_Missense_Mutation_p.L725P|ERBB2_ENST00000406381.2_Missense_Mutation_p.L725P|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.L725P|ERBB2_ENST00000584450.1_Missense_Mutation_p.L755P			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	755	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> P (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:15457249}.		axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.L755S(10)|p.L755P(2)|p.L755_S760>A(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CATCAAAGTGTTGAGGGAAAAC	0.53	L755S(LN229_CENTRAL_NERVOUS_SYSTEM)	1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	13	Substitution - Missense(12)|Complex - insertion inframe(1)	breast(7)|lung(3)|stomach(2)|large_intestine(1)																																								SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		Exception_encountered	chr17.hg19:g.37880219_37880220delinsCC	ENSP00000269571:p.Leu755Pro		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent|Missense_Mutation	SNP	ENST00000269571.5	hg19	CCDS32642.1																																																																																				0.53	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			CC	37880220	TT	CC	37880219	3	2	623	1	0	0	0	0	1	0	0	0	5208	1722	60	3	2337	3	ERBB2	17	37880219	Missense_Mutation	DNP	TT	TCGA-DW-7839-01A-11D-2136-08	20158640	37880219	43314991	36	33946											
MUC16	94025	hgsc.bcm.edu	37	19	9075468	9075468	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr19:9075468G>C	ENST00000397910.4	-	3	12181	c.11978C>G	c.(11977-11979)tCt>tGt	p.S3993C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3995	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGACATAGAAACTATTGC	0.488																																																0													85	82	83					19																	9075468		2075	4186	6261	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11978C>G	chr19.hg19:g.9075468G>C	ENSP00000381008:p.Ser3993Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.284	-0.363940	0.05103	.	.	ENSG00000181143	ENST00000397910	T	0.39592	1.07	2.18	-1.2	0.09554	.	.	.	.	.	T	0.50257	0.1605	L	0.50333	1.59	.	.	.	D	0.89917	1.0	D	0.79108	0.992	T	0.55412	-0.8145	8	0.87932	D	0	.	4.9481	0.14000	0.5113:0.0:0.4887:0.0	.	3993	B5ME49	.	C	3993	ENSP00000381008:S3993C	ENSP00000381008:S3993C	S	-	2	0	MUC16	8936468	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.113000	0.10774	-0.220000	0.09988	0.313000	0.20887	TCT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		C	9075468	G	C	9075468	3	2	623	1	0	0	0	0	1	0	0	0	9975	942	33	4	31873	4	MUC16	19	9075468	Missense_Mutation	SNP	G	TCGA-DW-7839-01A-11D-2136-08		9075468	50053515	37	33947											
DMPK	1760	hgsc.bcm.edu	37	19	46281110	46281110	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr19:46281110C>T	ENST00000291270.4	-	7	822	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	DMPK_ENST00000354227.5_Missense_Mutation_p.G233S|DMPK_ENST00000458663.2_Missense_Mutation_p.G233S|DMPK_ENST00000447742.2_Missense_Mutation_p.G233S|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000343373.4_Missense_Mutation_p.G243S|DMPK_ENST00000600757.1_Missense_Mutation_p.G243S	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TCTGGGGTGCCCACAGCCACC	0.692																																					Esophageal Squamous(35;307 869 9153 24033 28903)											0													34	38	37					19																	46281110		2200	4292	6492	SO:0001583	missense	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.697G>A	chr19.hg19:g.46281110C>T	ENSP00000291270:p.Gly233Ser		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	hg19	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	35	5.523740	0.96431	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000533	T	0.80929	0.4718	H	0.95982	3.75	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0	D	0.87078	0.2164	10	0.87932	D	0	.	15.3285	0.74186	0.0:1.0:0.0:0.0	.	233;233;259;233;233;233;280;243	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	S	233;259;233;233;233;243;243;233	ENSP00000401753:G233S;ENSP00000291270:G233S;ENSP00000413417:G233S;ENSP00000345997:G243S;ENSP00000346168:G233S	ENSP00000291270:G233S	G	-	1	0	DMPK	50972950	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.606000	0.82863	2.455000	0.83008	0.655000	0.94253	GGC		0.692	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		T	46281110	C	T	46281110	3	4	623	1	0	0	0	0	1	0	0	0	4586	623	22	2	1235	2	DMPK	19	46281110	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08	37205642	46281110	12847873	38	33948											
NLRP2	55655	hgsc.bcm.edu	37	19	55494859	55494859	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr19:55494859C>T	ENST00000543010.1	+	6	1936	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	NLRP2_ENST00000448584.2_Missense_Mutation_p.T598M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T574M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T595M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T576M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T575M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T574M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T576M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	598					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGACATTCAACGGTGACAGAC	0.537																																																0													107	92	97					19																	55494859		2203	4300	6503	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1793C>T	chr19.hg19:g.55494859C>T	ENSP00000445135:p.Thr598Met		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	hg19	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048824	0.36181	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74842	-0.87;-0.78;-0.8;-0.87;-0.8;-0.88;-0.78;-0.87	1.94	-0.27	0.12926	.	.	.	.	.	T	0.72095	0.3418	L	0.40543	1.245	0.09310	N	1	D;D;D;D;D	0.63880	0.993;0.993;0.988;0.993;0.988	P;P;P;P;P	0.58391	0.749;0.838;0.693;0.838;0.693	T	0.59894	-0.7368	9	0.48119	T	0.1	.	4.2569	0.10721	0.0:0.6265:0.0:0.3735	.	575;576;595;574;598	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	598;574;576;598;576;575;574;595	ENSP00000445135:T598M;ENSP00000375601:T574M;ENSP00000344074:T576M;ENSP00000409370:T598M;ENSP00000440601:T576M;ENSP00000402474:T575M;ENSP00000441133:T574M;ENSP00000263437:T595M	ENSP00000263437:T595M	T	+	2	0	NLRP2	60186671	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.276000	0.08514	-0.000000	0.14550	0.561000	0.74099	ACG		0.537	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		T	55494859	C	T	55494859	3	4	623	1	0	0	0	0	1	0	0	0	10479	536	19	1	1811	1	NLRP2	19	55494859	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08	9213749	55494859	3634124	39	33949											
SNX5	27131	hgsc.bcm.edu	37	20	17933351	17933351	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr20:17933351C>G	ENST00000377768.3	-	6	705	c.393G>C	c.(391-393)gaG>gaC	p.E131D	SNX5_ENST00000377759.4_Missense_Mutation_p.E131D|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	131	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CAGCGAGATACTCACTGAAAA	0.453																																																0													53	47	49					20																	17933351		2203	4300	6503	SO:0001583	missense	27131			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"Sorting nexins"	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.393G>C	chr20.hg19:g.17933351C>G	ENSP00000366998:p.Glu131Asp		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	hg19	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763778	0.49574	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.66	-7.72	0.01250	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.68593	2.085	0.52099	D	0.999949	B;P	0.44006	0.435;0.824	B;P	0.48141	0.366;0.568	T	0.60311	-0.7288	10	0.38643	T	0.18	.	16.5172	0.84304	0.0:0.2582:0.0:0.7418	.	152;131	B7Z476;Q9Y5X3	.;SNX5_HUMAN	D	131;131;94;96	ENSP00000366998:E131D;ENSP00000366988:E131D;ENSP00000404448:E94D;ENSP00000406731:E96D	ENSP00000366988:E131D	E	-	3	2	SNX5	17881351	0.985000	0.35326	0.546000	0.28166	0.781000	0.44180	0.195000	0.17155	-1.620000	0.01564	-1.124000	0.02001	GAG		0.453	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			G	17933351	C	G	17933351	3	3	623	1	0	0	0	0	1	0	0	0	14911	564	20	4	857	4	SNX5	20	17933351	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08		17933351	45092169	40	33950											
WFDC10A	140832	hgsc.bcm.edu	37	20	44258534	44258534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr20:44258534delA	ENST00000372643.3	+	1	370	c.82delA	c.(82-84)aggfs	p.R28fs	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	28						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				TGACAAGAAGAGGATGCAGAG	0.577											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													165	130	142					20																	44258534		2203	4300	6503	SO:0001589	frameshift_variant	140832			AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"WAP four-disulfide core domain containing"	16139	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 146"	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.82delA	chr20.hg19:g.44258534delA	ENSP00000361726:p.Arg28fs	922	A2RRE9|Q5TGZ7	Frame_Shift_Del	DEL	ENST00000372643.3	hg19	CCDS13363.1																																																																																				0.577	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2			-	44258534	A	-	44258534	7	5	623	1	0	1	0	1	0	0	0	0	17352	295	11	0	84	0	WFDC10A	20	44258534	Frame_Shift_Del	DEL	A	TCGA-DW-7839-01A-11D-2136-08	26325183	44258534	18766986	41	33951											
NUDT10	170685	hgsc.bcm.edu	37	X	51075840	51075840	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chrX:51075840C>T	ENST00000376006.3	+	2	243	c.23C>T	c.(22-24)aCa>aTa	p.T8I	NUDT10_ENST00000356450.2_Missense_Mutation_p.T8I	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					CCCAACCAGACACGGACCTAC	0.677																																					NSCLC(90;1817 2035 37909 38249)											0													48	36	40					X																	51075840		2203	4300	6503	SO:0001583	missense	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.23C>T	chrX.hg19:g.51075840C>T	ENSP00000365174:p.Thr8Ile		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000376006.3	hg19	CCDS35278.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619529	0.46736	.	.	ENSG00000122824	ENST00000376006;ENST00000356450	T;T	0.41758	0.99;0.99	2.61	2.61	0.31194	NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	L	0.40543	1.245	0.38831	D	0.955848	B	0.06786	0.001	B	0.08055	0.003	T	0.39440	-0.9614	9	0.33141	T	0.24	-26.7854	10.5501	0.45083	0.0:1.0:0.0:0.0	.	8	Q8NFP7	NUD10_HUMAN	I	8	ENSP00000365174:T8I;ENSP00000348831:T8I	ENSP00000348831:T8I	T	+	2	0	NUDT10	51092580	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	4.938000	0.63519	1.602000	0.50124	0.429000	0.28392	ACA		0.677	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		T	51075840	C	T	51075840	3	4	623	1	0	0	0	0	1	0	0	0	10728	478	17	2	25	2	NUDT10	23	51075840	Missense_Mutation	SNP	C	TCGA-DW-7839-01A-11D-2136-08		51075840	104194720	42	33952											
NUDT11	55190	hgsc.bcm.edu	37	X	51239274	51239274	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chrX:51239274G>A	ENST00000375992.3	-	1	174	c.23C>T	c.(22-24)aCg>aTg	p.T8M		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	8					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					GTAGGTCCGCGTCTGGTTGGG	0.682										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)											0													20	17	18					X																	51239274		2199	4298	6497	SO:0001583	missense	55190			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.23C>T	chrX.hg19:g.51239274G>A	ENSP00000365160:p.Thr8Met		Q9NVN0	Missense_Mutation	SNP	ENST00000375992.3	hg19	CCDS43952.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134884	0.56828	.	.	ENSG00000196368	ENST00000375992	T	0.40756	1.02	3.0	2.01	0.26516	NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	M	0.70275	2.135	0.36766	D	0.883520	P	0.43750	0.816	B	0.37692	0.256	T	0.55270	-0.8167	9	0.48119	T	0.1	-26.7854	8.2508	0.31717	0.0:0.0:0.7647:0.2353	.	8	Q96G61	NUD11_HUMAN	M	8	ENSP00000365160:T8M	ENSP00000365160:T8M	T	-	2	0	NUDT11	51256014	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.357000	0.90088	1.514000	0.48869	0.544000	0.68410	ACG		0.682	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			A	51239274	G	A	51239274	3	1	623	1	0	0	0	0	1	0	0	0	10729	1145	40	1	479	1	NUDT11	23	51239274	Missense_Mutation	SNP	G	TCGA-DW-7839-01A-11D-2136-08	163434	51239274	104031286	43	33953											
RGAG4	340526	hgsc.bcm.edu	37	X	71351213	71351213	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chrX:71351213T>C	ENST00000545866.1	-	1	545	c.178A>G	c.(178-180)Ata>Gta	p.I60V	RGAG4_ENST00000609883.1_Missense_Mutation_p.I60V|NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000535692.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	60										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ACGGGCACTATGGGTACTGGC	0.617													T|||	3	0.000794702	0.0	0.0043	3775	,	,		8298	0.0		0.0	False		,,,				2504	0.0															0													49	52	52					X																	71351213		1948	4125	6073	SO:0001583	missense	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.178A>G	chrX.hg19:g.71351213T>C	ENSP00000441366:p.Ile60Val		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	hg19	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	T	0.155	-1.087731	0.01873	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12774	2.65;2.65	3.58	-1.73	0.08081	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43130	-0.9410	8	.	.	.	.	4.2089	0.10502	0.2097:0.5432:0.0:0.2471	.	60	Q5HYW3	RGAG4_HUMAN	V	60	ENSP00000441366:I60V;ENSP00000418667:I60V	.	I	-	1	0	RGAG4	71267938	0.096000	0.21769	0.004000	0.12327	0.666000	0.39218	-0.475000	0.06599	-0.475000	0.06852	-0.438000	0.05819	ATA		0.617	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		C	71351213	T	C	71351213	3	2	623	1	0	0	0	0	1	0	0	0	13281	1464	51	3	1535	3	RGAG4	23	71351213	Missense_Mutation	SNP	T	TCGA-DW-7839-01A-11D-2136-08	20111939	71351213	83919347	44	33954											
KIAA1751	85452	hgsc.bcm.edu	37	1	1887063	1887063	+	IGR	SNP	C	C	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:1887063C>T								TMEM52 (36351 upstream) : C1orf222 (32499 downstream)																							CCCCTCAGCCCCCTGGAATGC	0.597																																																0													61	67	65					1																	1887063		1913	4097	6010	SO:0001628	intergenic_variant	85452																															chr1.hg19:g.1887063C>T				Missense_Mutation	SNP		hg19		.	.	.	.	.	.	.	.	.	.	C	11.65	1.701128	0.30142	.	.	ENSG00000142609	ENST00000270720	.	.	.	1.45	-0.582	0.11709	.	0.105878	0.36665	N	0.002476	T	0.14657	0.0354	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.11329	0.006	T	0.11494	-1.0585	9	0.87932	D	0	.	3.7893	0.08713	0.0:0.5066:0.0:0.4934	.	748	Q9C0B2	K1751_HUMAN	E	748	.	ENSP00000270720:G748E	G	-	2	0	C1orf222	1876923	0.000000	0.05858	0.001000	0.08648	0.193000	0.23685	0.050000	0.14120	-0.199000	0.10317	0.462000	0.41574	GGG	0	0.597									T	1887063	C	T	1887063	1	4	624	0	1	0	0	0	0	0	0	0	8258	623	22	2		2	KIAA1751	1	1887063	IGR	SNP	C	TCGA-DW-7840-01A-11D-2136-08		1887063	247363558	1	33955											
CAMTA1	23261	hgsc.bcm.edu	37	1	7721912	7721912	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:7721912G>C	ENST00000303635.7	+	8	998	c.791G>C	c.(790-792)tGc>tCc	p.C264S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.C264S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AACTGCCTCTGCACCGGCAGC	0.687			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													26	25	26					1																	7721912		2199	4298	6497	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.791G>C	chr1.hg19:g.7721912G>C	ENSP00000306522:p.Cys264Ser		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	hg19	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	18.00	3.526318	0.64860	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.52526	0.66;0.66	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	L	0.58101	1.795	0.80722	D	1	B	0.32573	0.376	B	0.27380	0.079	T	0.38112	-0.9676	10	0.10902	T	0.67	-19.7455	18.2029	0.89844	0.0:0.0:1.0:0.0	.	264	Q9Y6Y1	CMTA1_HUMAN	S	264	ENSP00000306522:C264S;ENSP00000402561:C264S	ENSP00000306522:C264S	C	+	2	0	CAMTA1	7644499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.654000	0.98509	2.382000	0.81193	0.543000	0.68304	TGC		0.687	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		C	7721912	G	C	7721912	3	2	624	1	0	0	0	0	1	0	0	0	2615	1319	46	4	821	4	CAMTA1	1	7721912	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08	5834849	7721912	241528709	2	33956											
RERE	473	hgsc.bcm.edu	37	1	8424145	8424145	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:8424145T>A	ENST00000337907.3	-	16	2345	c.1711A>T	c.(1711-1713)Agc>Tgc	p.S571C	RERE_ENST00000377464.1_Missense_Mutation_p.S303C|RERE_ENST00000476556.1_Missense_Mutation_p.S17C|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.S571C|RERE_ENST00000460659.1_5'Flank	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	571					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTCCTCATGCTATGCTTCCCA	0.602																																																0													76	65	69					1																	8424145		2203	4300	6503	SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1711A>T	chr1.hg19:g.8424145T>A	ENSP00000338629:p.Ser571Cys		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	hg19	CCDS95.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182080	0.78677	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.06768	3.26;3.26;3.26	5.17	5.17	0.71159	.	.	.	.	.	T	0.26122	0.0637	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.00498	-1.1704	9	0.59425	D	0.04	-23.1488	14.3401	0.66619	0.0:0.0:0.0:1.0	.	303;571	B1AKN3;Q9P2R6	.;RERE_HUMAN	C	571;303;17;571	ENSP00000338629:S571C;ENSP00000366684:S303C;ENSP00000383700:S571C	ENSP00000338629:S571C	S	-	1	0	RERE	8346732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.520000	0.81821	2.171000	0.68590	0.459000	0.35465	AGC		0.602	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			A	8424145	T	A	8424145	3	1	624	1	0	0	0	0	1	0	0	0	13237	1522	53	5	3025	5	RERE	1	8424145	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	702233	8424145	240826476	3	33957											
HMGCL	3155	hgsc.bcm.edu	37	1	24147039	24147039	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:24147039A>C	ENST00000374490.3	-	2	148	c.105T>G	c.(103-105)atT>atG	p.I35M	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.I35M|HMGCL_ENST00000374483.4_Missense_Mutation_p.I10M	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	35					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		CAACTTCCACAATTTTCACCC	0.403																																																0													159	141	147					1																	24147039		2203	4300	6503	SO:0001583	missense	3155			BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"hydroxymethylglutaricaciduria"	613898	"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.105T>G	chr1.hg19:g.24147039A>C	ENSP00000363614:p.Ile35Met		B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Missense_Mutation	SNP	ENST00000374490.3	hg19	CCDS243.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.82|14.82	2.650811|2.650811	0.47362|0.47362	.|.	.|.	ENSG00000117305|ENSG00000117305	ENST00000374490;ENST00000436439;ENST00000374483;ENST00000543166|ENST00000235958	D;D;D|.	0.98862|.	-5.19;-5.1;-5.19|.	5.27|5.27	0.302|0.302	0.15786|0.15786	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (1);|.	0.147080|.	0.64402|.	D|.	0.000011|.	T|T	0.30448|0.30448	0.0765|0.0765	N|N	0.08118|0.08118	0|0	0.41038|0.41038	D|D	0.985205|0.985205	P;B;B;B|.	0.37141|.	0.584;0.08;0.08;0.08|.	B;B;B;B|.	0.40741|.	0.338;0.339;0.232;0.339|.	T|T	0.04440|0.04440	-1.0951|-1.0951	10|5	0.66056|.	D|.	0.02|.	-0.2207|-0.2207	8.6087|8.6087	0.33789|0.33789	0.566:0.0:0.434:0.0|0.566:0.0:0.434:0.0	.|.	35;35;10;35|.	B4DUP4;Q6IBC0;B1AK13;P35914|.	.;.;.;HMGCL_HUMAN|.	M|W	35;35;10;10|31	ENSP00000363614:I35M;ENSP00000389281:I35M;ENSP00000363607:I10M|.	ENSP00000363607:I10M|.	I|L	-|-	3|2	3|0	HMGCL|HMGCL	24019626|24019626	0.519000|0.519000	0.26242|0.26242	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	-0.299000|-0.299000	0.08254|0.08254	0.132000|0.132000	0.18615|0.18615	-0.385000|-0.385000	0.06624|0.06624	ATT|TTG		0.403	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		C	24147039	A	C	24147039	3	2	624	1	0	0	0	0	1	0	0	0	7231	126	5	5	904	5	HMGCL	1	24147039	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08	15722894	24147039	225103582	4	33958											
PHACTR4	65979	hgsc.bcm.edu	37	1	28785697	28785697	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:28785697T>C	ENST00000373839.3	+	3	379	c.118T>C	c.(118-120)Ttt>Ctt	p.F40L	PHACTR4_ENST00000373836.3_Missense_Mutation_p.F50L|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	40					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCTCAGGCTTTGGCAAGAT	0.448																																																0													87	84	85					1																	28785697		1904	4119	6023	SO:0001583	missense	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.118T>C	chr1.hg19:g.28785697T>C	ENSP00000362945:p.Phe40Leu		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	hg19	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.706660	0.48412	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.12465	2.68;2.69	5.28	5.28	0.74379	.	0.185233	0.48767	N	0.000178	T	0.06234	0.0161	N	0.04132	-0.27	0.36529	D	0.870593	B;B;B	0.14012	0.005;0.003;0.009	B;B;B	0.16722	0.009;0.004;0.016	T	0.13469	-1.0508	10	0.02654	T	1	-1.0711	14.6855	0.69047	0.0:0.0:0.0:1.0	.	50;40;24	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	L	40;50;39	ENSP00000362945:F40L;ENSP00000362942:F50L	ENSP00000362942:F50L	F	+	1	0	PHACTR4	28658284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.667000	0.37471	2.128000	0.65567	0.528000	0.53228	TTT		0.448	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		C	28785697	T	C	28785697	3	2	624	1	0	0	0	0	1	0	0	0	11814	1609	56	3	174	3	PHACTR4	1	28785697	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	4638658	28785697	220464924	5	33959											
PUM1	9698	hgsc.bcm.edu	37	1	31406096	31406096	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:31406096A>T	ENST00000257075.5	-	22	3616	c.3523T>A	c.(3523-3525)Tta>Ata	p.L1175I	PUM1_ENST00000373747.3_Missense_Mutation_p.L1178I|PUM1_ENST00000440538.2_Missense_Mutation_p.L1151I|PUM1_ENST00000423018.2_Missense_Mutation_p.L1033I|PUM1_ENST00000424085.2_Missense_Mutation_p.L933I|PUM1_ENST00000373742.2_Missense_Mutation_p.L1116I|PUM1_ENST00000426105.2_Missense_Mutation_p.L1177I|SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000373741.4_Missense_Mutation_p.L1213I	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1175					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATGGGCCCTAAGTCAACACCG	0.552																																																0													187	165	173					1																	31406096		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3523T>A	chr1.hg19:g.31406096A>T	ENSP00000257075:p.Leu1175Ile		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	hg19	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.95|17.95	3.512828|3.512828	0.64522|0.64522	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843;ENST00000498419|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	.|T;T;T;T;T;T;T;T	.|0.20332	.|2.14;2.08;2.34;2.34;2.42;2.33;2.44;2.1	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.34658|0.34658	0.0905|0.0905	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	.|D;B;B;B;B;P;B;D	.|0.67145	.|0.991;0.125;0.259;0.33;0.374;0.58;0.374;0.996	.|D;B;B;B;B;B;B;D	.|0.65773	.|0.938;0.076;0.076;0.159;0.168;0.183;0.168;0.913	T|T	0.14172|0.14172	-1.0482|-1.0482	6|10	.|0.51188	.|T	.|0.08	-3.3845|-3.3845	5.2679|5.2679	0.15609|0.15609	0.7814:0.0:0.2186:0.0|0.7814:0.0:0.2186:0.0	.|.	.|1116;1033;1213;1151;1175;1177;1178;1177	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.|.;.;.;.;PUM1_HUMAN;.;.;.	H|I	1113;888|933;1175;1178;915;1177;1151;1213;1033;1116	.|ENSP00000400141:L933I;ENSP00000257075:L1175I;ENSP00000362852:L1178I;ENSP00000391723:L1177I;ENSP00000401777:L1151I;ENSP00000362846:L1213I;ENSP00000399440:L1033I;ENSP00000362847:L1116I	.|ENSP00000257075:L1175I	L|L	-|-	2|1	0|2	PUM1|PUM1	31178683|31178683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.430000|1.430000	0.34914|0.34914	2.095000|2.095000	0.63458|0.63458	0.454000|0.454000	0.30748|0.30748	CTT|TTA		0.552	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			T	31406096	A	T	31406096	3	4	624	1	0	0	0	0	1	0	0	0	12831	69	3	5	41	5	PUM1	1	31406096	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08	2620399	31406096	217844525	6	33960											
RBM15	64783	hgsc.bcm.edu	37	1	110883658	110883658	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:110883658C>G	ENST00000369784.3	+	1	2531	c.1631C>G	c.(1630-1632)aCt>aGt	p.T544S	RBM15_ENST00000602849.1_Missense_Mutation_p.T544S|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Missense_Mutation_p.T544S	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	544					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCCCTTGACTCATTATGAG	0.547			T	MKL1	acute megakaryocytic leukemia																																		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													74	71	72					1																	110883658		2203	4300	6503	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1631C>G	chr1.hg19:g.110883658C>G	ENSP00000358799:p.Thr544Ser		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	hg19	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	6.069	0.381059	0.11466	.	.	ENSG00000162775	ENST00000369784	T	0.15952	2.38	4.44	4.44	0.53790	.	0.000000	0.44688	D	0.000431	T	0.03915	0.0110	N	0.22421	0.69	0.27060	N	0.963566	B;B	0.24426	0.103;0.063	B;B	0.22386	0.039;0.017	T	0.31251	-0.9950	10	0.10636	T	0.68	-8.2962	13.8608	0.63559	0.0:0.8463:0.1537:0.0	.	544;544	Q96T37-3;Q96T37	.;RBM15_HUMAN	S	544	ENSP00000358799:T544S	ENSP00000358799:T544S	T	+	2	0	RBM15	110685181	0.985000	0.35326	1.000000	0.80357	0.993000	0.82548	2.270000	0.43355	2.306000	0.77630	0.655000	0.94253	ACT		0.547	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		G	110883658	C	G	110883658	3	3	624	1	0	0	0	0	1	0	0	0	13122	565	20	4	1633	4	RBM15	1	110883658	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08	79477562	110883658	138366963	7	33961											
ADCY10	55811	hgsc.bcm.edu	37	1	167870956	167870956	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:167870956T>A	ENST00000367851.4	-	5	564	c.380A>T	c.(379-381)cAt>cTt	p.H127L	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_Missense_Mutation_p.H35L	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	127	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAACAATCCATGGATCTCCAG	0.478																																																0													170	167	168					1																	167870956		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.380A>T	chr1.hg19:g.167870956T>A	ENSP00000356825:p.His127Leu		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	hg19	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.859754	0.71834	.	.	ENSG00000143199	ENST00000367851;ENST00000367848	T;T	0.78003	-1.14;1.49	5.76	5.76	0.90799	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.177315	0.39985	N	0.001214	T	0.67468	0.2896	L	0.27053	0.805	0.35716	D	0.816771	D;D	0.61697	0.988;0.99	P;P	0.62491	0.844;0.903	T	0.66666	-0.5866	9	0.11794	T	0.64	-17.7472	12.4728	0.55797	0.0:0.0:0.0:1.0	.	35;127	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	L	127;35	ENSP00000356825:H127L;ENSP00000356822:H35L	ENSP00000356822:H35L	H	-	2	0	ADCY10	166137580	1.000000	0.71417	0.922000	0.36590	0.701000	0.40568	4.710000	0.61873	2.193000	0.70182	0.450000	0.29827	CAT		0.478	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		A	167870956	T	A	167870956	3	1	624	1	0	0	0	0	1	0	0	0	293	1464	51	5	4568	5	ADCY10	1	167870956	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	56987298	167870956	81379665	8	33962											
IKBKE	9641	hgsc.bcm.edu	37	1	206651658	206651658	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:206651658A>G	ENST00000367120.3	+	9	1341	c.968A>G	c.(967-969)cAc>cGc	p.H323R	IKBKE_ENST00000537984.1_Missense_Mutation_p.H238R	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	323					immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GTCCTGCACCACATCTATATC	0.572																																																0													201	170	181					1																	206651658		2203	4300	6503	SO:0001583	missense	9641			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.968A>G	chr1.hg19:g.206651658A>G	ENSP00000356087:p.His323Arg		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	hg19	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	a	6.092	0.385235	0.11524	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.62105	0.05;0.2	5.31	2.99	0.34606	.	0.288882	0.40818	N	0.001016	T	0.39226	0.1070	N	0.17474	0.49	0.23351	N	0.997852	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.18871	-1.0323	10	0.11182	T	0.66	-5.285	8.6511	0.34035	0.7589:0.0:0.2411:0.0	.	238;323	Q3B754;Q14164	.;IKKE_HUMAN	R	323;238	ENSP00000356087:H323R;ENSP00000444529:H238R	ENSP00000356087:H323R	H	+	2	0	IKBKE	204718281	0.715000	0.27946	0.538000	0.28064	0.720000	0.41350	1.322000	0.33689	0.345000	0.23873	0.454000	0.30748	CAC		0.572	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			G	206651658	A	G	206651658	3	3	624	1	0	0	0	0	1	0	0	0	7614	159	6	3	994	3	IKBKE	1	206651658	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08	38780702	206651658	42598963	9	33963											
SYT14	255928	hgsc.bcm.edu	37	1	210267875	210267875	+	Silent	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:210267875T>C	ENST00000472886.1	+	5	665	c.651T>C	c.(649-651)agT>agC	p.S217S	SYT14_ENST00000534859.1_Silent_p.S217S|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Silent_p.S217S|SYT14_ENST00000367015.1_Silent_p.S179S|SYT14_ENST00000399639.2_Silent_p.S217S|SYT14_ENST00000537238.1_Silent_p.S179S|SYT14_ENST00000422431.1_Silent_p.S262S			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	217					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAATAGAAAGTTTTCATAATA	0.393																																																0													82	81	81					1																	210267875		2203	4300	6503	SO:0001819	synonymous_variant	255928			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.651T>C	chr1.hg19:g.210267875T>C			B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	hg19	CCDS31014.1																																																																																				0.393	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		C	210267875	T	C	210267875	2	2	624	1	0	0	0	0	0	0	0	1	15475	1722	60	3		3	SYT14	1	210267875	Silent	SNP	T	TCGA-DW-7840-01A-11D-2136-08	3616217	210267875	38982746	10	33964											
SLC30A6	55676	hgsc.bcm.edu	37	2	32422810	32422810	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr2:32422810T>A	ENST00000282587.5	+	10	617	c.580T>A	c.(580-582)Ttc>Atc	p.F194I	SLC30A6_ENST00000406369.1_Missense_Mutation_p.F120I|SLC30A6_ENST00000538303.1_Missense_Mutation_p.F165I|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000379343.2_Missense_Mutation_p.F234I|SLC30A6_ENST00000435660.1_Missense_Mutation_p.F194I	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	194					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAGCAGTATCTTCCTTCCCCG	0.348																																																0													195	185	188					2																	32422810		2203	4300	6503	SO:0001583	missense	55676			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"Solute carriers"	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.580T>A	chr2.hg19:g.32422810T>A	ENSP00000282587:p.Phe194Ile		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	hg19	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093791	0.76870	.	.	ENSG00000152683	ENST00000379343;ENST00000440718;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000406369	T;T;T;T;T;T	0.62105	0.07;0.05;0.07;0.07;0.07;0.07	6.07	6.07	0.98685	.	0.101567	0.64402	D	0.000002	T	0.57051	0.2027	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.34399	0.367;0.452;0.202;0.31	B;B;B;B	0.40702	0.338;0.164;0.205;0.113	T	0.53457	-0.8436	10	0.23302	T	0.38	-14.6144	15.6102	0.76710	0.0:0.0:0.0:1.0	.	165;194;234;194	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	I	234;165;194;194;165;120	ENSP00000368648:F234I;ENSP00000393946:F165I;ENSP00000282587:F194I;ENSP00000399005:F194I;ENSP00000440678:F165I;ENSP00000384041:F120I	ENSP00000282587:F194I	F	+	1	0	SLC30A6	32276314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.462000	0.66707	2.330000	0.79161	0.528000	0.53228	TTC		0.348	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			A	32422810	T	A	32422810	3	1	624	1	0	0	0	0	1	0	0	0	14565	1609	56	5	618	5	SLC30A6	2	32422810	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08		32422810	210776563	11	33965											
MTIF2	4528	hgsc.bcm.edu	37	2	55470636	55470636	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr2:55470636A>G	ENST00000263629.4	-	12	1795	c.1480T>C	c.(1480-1482)Ttt>Ctt	p.F494L	MTIF2_ENST00000394600.3_Missense_Mutation_p.F494L|MTIF2_ENST00000403721.1_Missense_Mutation_p.F494L	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	494					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CTTTCTAAAAACCGTAGAATT	0.338																																																0													146	146	146					2																	55470636		2203	4300	6503	SO:0001583	missense	4528			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1480T>C	chr2.hg19:g.55470636A>G	ENSP00000263629:p.Phe494Leu		D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	hg19	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.584682	0.28268	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823	T;T;T;T	0.56275	0.47;0.47;0.47;1.05	5.6	5.6	0.85130	Translation initiation factor IF- 2, domain 3 (1);	0.270733	0.37577	N	0.002040	T	0.41766	0.1173	L	0.38175	1.15	0.42010	D	0.990935	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	10	0.09084	T	0.74	-2.2567	15.7861	0.78304	1.0:0.0:0.0:0.0	.	494	P46199	IF2M_HUMAN	L	494;494;494;172	ENSP00000384481:F494L;ENSP00000263629:F494L;ENSP00000378099:F494L;ENSP00000403492:F172L	ENSP00000263629:F494L	F	-	1	0	MTIF2	55324140	1.000000	0.71417	0.207000	0.23584	0.007000	0.05969	6.152000	0.71812	2.136000	0.66102	0.533000	0.62120	TTT		0.338	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		G	55470636	A	G	55470636	3	3	624	1	0	0	0	0	1	0	0	0	9936	43	2	3	723	3	MTIF2	2	55470636	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08	23047826	55470636	187728737	12	33966											
USP34	9736	hgsc.bcm.edu	37	2	61493234	61493234	+	Silent	SNP	C	C	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr2:61493234C>T	ENST00000398571.2	-	42	5578	c.5502G>A	c.(5500-5502)aaG>aaA	p.K1834K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1834					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTGATTTGCACTTTGGCTGTT	0.408																																																0													123	111	115					2																	61493234		1848	4096	5944	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5502G>A	chr2.hg19:g.61493234C>T			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	hg19	CCDS42686.1																																																																																				0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			T	61493234	C	T	61493234	2	4	624	1	0	0	0	0	0	0	0	1	17070	564	20	2		2	USP34	2	61493234	Silent	SNP	C	TCGA-DW-7840-01A-11D-2136-08	6022598	61493234	181706139	13	33967											
IL1F5	26525	hgsc.bcm.edu	37	2	113820191	113820191	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr2:113820191delG	ENST00000393200.2	+	5	566	c.405delG	c.(403-405)cagfs	p.Q135fs	IL36RN_ENST00000346807.3_Frame_Shift_Del_p.Q135fs	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	135					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GACTCACCCAGCTTCCCGAGA	0.632																																																0													50	48	49					2																	113820191		2203	4300	6503	SO:0001589	frameshift_variant	26525			AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"Interleukins and interleukin receptors"	15561	protein-coding gene	gene with protein product	"family of interleukin 1-delta", "interleukin-1 receptor antagonist homolog 1", "interleukin-1 HY1", "IL-1 related protein 3"	605507	"interleukin 1 family, member 5 (delta)"	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.405delG	chr2.hg19:g.113820191delG	ENSP00000376896:p.Gln135fs		A8K2I4|Q56AT9|Q7RTZ6	Frame_Shift_Del	DEL	ENST00000393200.2	hg19	CCDS2111.1																																																																																				0.632	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170		-	113820191	G	-	113820191	7	5	624	1	0	1	0	1	0	0	0	0	7655	962	34	0	419	0	IL1F5	2	113820191	Frame_Shift_Del	DEL	G	TCGA-DW-7840-01A-11D-2136-08	52326957	113820191	129379182	14	33968											
RAB3GAP1	22930	hgsc.bcm.edu	37	2	135891507	135891507	+	Missense_Mutation	SNP	A	A	G	rs578182809		TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr2:135891507A>G	ENST00000264158.8	+	15	1446	c.1403A>G	c.(1402-1404)aAt>aGt	p.N468S	SNORA40_ENST00000385573.1_RNA|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.N468S|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_5'Flank|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.N424S	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	468					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTATGATCAATTTTTACCAT	0.383													A|||	1	0.000199681	0.0008	0.0	5008	,	,		16221	0.0		0.0	False		,,,				2504	0.0															0													134	133	133					2																	135891507		2203	4300	6503	SO:0001583	missense	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1403A>G	chr2.hg19:g.135891507A>G	ENSP00000264158:p.Asn468Ser		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	hg19	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421038	0.83559	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.48522	0.81;0.81;0.81	4.95	4.95	0.65309	.	0.043485	0.85682	D	0.000000	T	0.58337	0.2115	L	0.50333	1.59	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;P	0.63283	0.913;0.883	T	0.53570	-0.8420	10	0.22109	T	0.4	-20.1443	14.9142	0.70781	1.0:0.0:0.0:0.0	.	468;468	C9J837;Q15042	.;RB3GP_HUMAN	S	468;424;468	ENSP00000264158:N468S;ENSP00000444306:N424S;ENSP00000411418:N468S	ENSP00000264158:N468S	N	+	2	0	RAB3GAP1	135607977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.127000	0.94417	1.992000	0.58205	0.482000	0.46254	AAT		0.383	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		G	135891507	A	G	135891507	3	3	624	1	0	0	0	0	1	0	0	0	12941	101	4	3	1461	3	RAB3GAP1	2	135891507	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08	22071316	135891507	107307866	15	33969											
ABTB1	80325	hgsc.bcm.edu	37	3	127396051	127396051	+	Silent	SNP	C	C	A	rs368024563		TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr3:127396051C>A	ENST00000232744.8	+	8	770	c.684C>A	c.(682-684)atC>atA	p.I228I	ABTB1_ENST00000468137.1_Silent_p.I86I|ABTB1_ENST00000453791.2_Silent_p.I86I|ABTB1_ENST00000393363.3_Silent_p.I86I					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TGCTGACCATCGAGCCCCCAC	0.682																																																0													36	32	33					3																	127396051		2201	4297	6498	SO:0001819	synonymous_variant	80325			AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.684C>A	chr3.hg19:g.127396051C>A				Silent	SNP	ENST00000232744.8	hg19	CCDS3045.1																																																																																				0.682	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		A	127396051	C	A	127396051	2	1	624	1	0	0	0	0	0	0	0	1	102	874	31	4		4	ABTB1	3	127396051	Silent	SNP	C	TCGA-DW-7840-01A-11D-2136-08		127396051	70626379	16	33970											
LSG1	55341	hgsc.bcm.edu	37	3	194379786	194379786	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr3:194379786T>G	ENST00000265245.5	-	7	973	c.659A>C	c.(658-660)gAg>gCg	p.E220A		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	220	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACTCCGCTGCTCAGCAGTCAG	0.458																																																0													160	168	165					3																	194379786		2203	4300	6503	SO:0001583	missense	55341				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"large subunit GTPase 1 homolog (S. cerevisiae)"			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.659A>C	chr3.hg19:g.194379786T>G	ENSP00000265245:p.Glu220Ala		A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	hg19	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586546	0.66105	.	.	ENSG00000041802	ENST00000265245	D	0.91631	-2.88	6.17	2.65	0.31530	.	0.224693	0.45867	D	0.000326	D	0.88028	0.6327	L	0.35288	1.05	0.58432	D	0.999998	P	0.41498	0.752	P	0.46208	0.507	D	0.83890	0.0284	10	0.26408	T	0.33	.	9.937	0.41556	0.0:0.1846:0.0:0.8154	.	220	Q9H089	LSG1_HUMAN	A	220	ENSP00000265245:E220A	ENSP00000265245:E220A	E	-	2	0	LSG1	195861075	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	3.985000	0.56930	1.160000	0.42584	0.533000	0.62120	GAG		0.458	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		G	194379786	T	G	194379786	3	3	624	1	0	0	0	0	1	0	0	0	9051	1551	54	5	1349	5	LSG1	3	194379786	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	66983735	194379786	3642644	17	33971											
TFRC	7037	hgsc.bcm.edu	37	3	195782165	195782166	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr3:195782165_195782166TC>AG	ENST00000360110.4	-	17	1853_1854	c.1684_1685GA>CT	c.(1684-1686)GAt>CTt	p.D562L	TFRC_ENST00000535031.1_Missense_Mutation_p.D280L|TFRC_ENST00000420415.1_Missense_Mutation_p.D481L|TFRC_ENST00000465288.1_5'Flank|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.D562L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	562					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	ATAAGGATAATCTGTGTCCTGC	0.5			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	0																																										SO:0001583	missense	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1684_1685delinsAG	chr3.hg19:g.195782165_195782166delinsAG	ENSP00000353224:p.Asp562Leu		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	hg19	CCDS3312.1																																																																																				0.5	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			AG	195782166	TC	AG	195782165	3	1	624	1	0	0	0	0	1	0	0	0	15817	1435	50	5	609	5	TFRC	3	195782165	Missense_Mutation	DNP	TC	TCGA-DW-7840-01A-11D-2136-08	1402379	195782165	2240265	18	33972											
CEP135	9662	hgsc.bcm.edu	37	4	56874494	56874494	+	Splice_Site	SNP	A	A	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr4:56874494A>G	ENST00000257287.4	+	18	2406	c.2282A>G	c.(2281-2283)gAa>gGa	p.E761G		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	761					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTTCTATAGGAAAAAGCTGTT	0.289																																																0													60	64	63					4																	56874494		2201	4299	6500	SO:0001630	splice_region_variant	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2281-1A>G	chr4.hg19:g.56874494A>G			B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	hg19	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463771	0.43736	.	.	ENSG00000174799	ENST00000257287	T	0.35048	1.33	5.48	5.48	0.80851	.	0.043970	0.85682	D	0.000000	T	0.50137	0.1598	M	0.78049	2.395	0.54753	D	0.999988	D	0.56287	0.975	P	0.51385	0.668	T	0.55341	-0.8156	10	0.54805	T	0.06	.	12.2418	0.54546	1.0:0.0:0.0:0.0	.	761	Q66GS9	CP135_HUMAN	G	761	ENSP00000257287:E761G	ENSP00000257287:E761G	E	+	2	0	CEP135	56569251	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	5.412000	0.66392	2.182000	0.69389	0.528000	0.53228	GAA		0.289	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	Missense_Mutation	G	56874494	A	G	56874494	5	3	624	1	0	0	0	0	0	0	1	0	3249	260	9	3	2348	3	CEP135	4	56874494	Splice_Site	SNP	A	TCGA-DW-7840-01A-11D-2136-08		56874494	134279782	19	33973											
RCHY1	25898	hgsc.bcm.edu	37	4	76415883	76415883	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr4:76415883A>C	ENST00000324439.5	-	8	963	c.565T>G	c.(565-567)Tct>Gct	p.S189A	RCHY1_ENST00000380840.2_Missense_Mutation_p.S149A|RCHY1_ENST00000514021.1_5'Flank|RCHY1_ENST00000512706.1_Missense_Mutation_p.S167A|RCHY1_ENST00000513257.1_Missense_Mutation_p.S180A|RCHY1_ENST00000451788.1_Missense_Mutation_p.L188R	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	189					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCTAAAGCAGAGTGCATACAT	0.373																																																0													133	113	120					4																	76415883		2203	4300	6503	SO:0001583	missense	25898			AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"RING-type (C3HC4) zinc fingers"	17479	protein-coding gene	gene with protein product	"androgen-receptor N-terminal-interacting protein", "p53-induced protein with a RING-H2 domain", "zinc finger, CHY-type"	607680	"zinc finger protein 363", "ring finger and CHY zinc finger domain containing 1"	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.565T>G	chr4.hg19:g.76415883A>C	ENSP00000321239:p.Ser189Ala		B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	hg19	CCDS3567.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.67|14.67	2.604259|2.604259	0.46423|0.46423	.|.	.|.	ENSG00000163743|ENSG00000163743	ENST00000451788|ENST00000324439;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	.|T;T;T	.|0.35048	.|1.38;1.33;1.38	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Zinc finger, RING/FYVE/PHD-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60235|0.60235	0.2253|0.2253	.|.	.|.	.|.	0.32406|0.32406	N|N	0.551239|0.551239	.|D;D;D;D	.|0.89917	.|0.996;0.997;0.996;1.0	.|D;D;D;D	.|0.79108	.|0.987;0.992;0.987;0.987	T|T	0.71721|0.71721	-0.4507|-0.4507	5|9	0.22706|0.66056	T|D	0.39|0.02	-9.2258|-9.2258	14.2238|14.2238	0.65845|0.65845	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|140;167;180;189	.|E7EMC8;E7ETW5;Q96PM5-2;Q96PM5	.|.;.;.;ZN363_HUMAN	R|A	188|189;149;167;180;140	.|ENSP00000321239:S189A;ENSP00000370220:S149A;ENSP00000423976:S167A	ENSP00000401041:L188R|ENSP00000321239:S189A	L|S	-|-	2|1	0|0	RCHY1|RCHY1	76634907|76634907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.352000|7.352000	0.79404|0.79404	2.239000|2.239000	0.73571|0.73571	0.528000|0.528000	0.53228|0.53228	CTC|TCT		0.373	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		C	76415883	A	C	76415883	3	2	624	1	0	0	0	0	1	0	0	0	13183	304	11	5	228	5	RCHY1	4	76415883	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08	19541389	76415883	114738393	20	33974											
BMP2K	55589	hgsc.bcm.edu	37	4	79786783	79786783	+	Silent	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr4:79786783T>C	ENST00000335016.5	+	10	1306	c.1140T>C	c.(1138-1140)acT>acC	p.T380T	BMP2K_ENST00000502871.1_Silent_p.T380T	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	380					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACTCTGCTACTACTGCCACTC	0.418																																																0													122	110	114					4																	79786783		2203	4300	6503	SO:0001819	synonymous_variant	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1140T>C	chr4.hg19:g.79786783T>C			O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	hg19	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	T	7.526	0.657778	0.14645	.	.	ENSG00000138756	ENST00000502613	.	.	.	5.26	-0.259	0.12971	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	-3.7779	9.9454	0.41604	0.0:0.4316:0.0:0.5684	.	.	.	.	H	73	.	.	Y	+	1	0	BMP2K	80005807	0.986000	0.35501	0.891000	0.34965	0.665000	0.39181	0.684000	0.25364	0.047000	0.15862	-0.290000	0.09829	TAC		0.418	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		C	79786783	T	C	79786783	2	2	624	1	0	0	0	0	0	0	0	1	1460	1509	53	3		3	BMP2K	4	79786783	Silent	SNP	T	TCGA-DW-7840-01A-11D-2136-08	3370900	79786783	111367493	21	33975											
CENPE	1062	hgsc.bcm.edu	37	4	104081805	104081805	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr4:104081805C>T	ENST00000265148.3	-	21	2352	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	CENPE_ENST00000380026.3_Missense_Mutation_p.E730K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	755					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTTCTACTTCAGAAGGTAAA	0.318																																																0													65	69	67					4																	104081805		2201	4291	6492	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2263G>A	chr4.hg19:g.104081805C>T	ENSP00000265148:p.Glu755Lys		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	hg19	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761920	0.49468	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.71817	3.8;-0.6;3.8	4.58	4.58	0.56647	.	.	.	.	.	T	0.77631	0.4159	L	0.54323	1.7	0.51767	D	0.999931	D;D	0.76494	0.974;0.999	P;D	0.65987	0.726;0.94	T	0.78155	-0.2314	9	0.54805	T	0.06	.	10.406	0.44256	0.0:0.8981:0.0:0.1019	.	730;755	Q02224-3;Q02224	.;CENPE_HUMAN	K	755;755;730;755	ENSP00000265148:E755K;ENSP00000369365:E730K;ENSP00000423981:E755K	ENSP00000265148:E755K	E	-	1	0	CENPE	104301254	0.998000	0.40836	0.762000	0.31397	0.169000	0.22640	2.456000	0.44997	2.254000	0.74563	0.650000	0.86243	GAA		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				T	104081805	C	T	104081805	3	4	624	1	0	0	0	0	1	0	0	0	3232	835	29	2	5958	2	CENPE	4	104081805	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08	24295022	104081805	87072471	22	33976											
LRBA	987	hgsc.bcm.edu	37	4	151821345	151821345	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr4:151821345G>T	ENST00000357115.3	-	14	2023	c.1780C>A	c.(1780-1782)Ctg>Atg	p.L594M	LRBA_ENST00000535741.1_Missense_Mutation_p.L594M|LRBA_ENST00000507224.1_Missense_Mutation_p.L594M|LRBA_ENST00000510413.1_Missense_Mutation_p.L594M	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	594						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCCGTGGACAGATAAGTATAG	0.413																																																0													108	100	103					4																	151821345		2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1780C>A	chr4.hg19:g.151821345G>T	ENSP00000349629:p.Leu594Met		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	hg19	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255995	0.59321	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.59	2.91	0.33838	Armadillo-type fold (1);	0.000000	0.52532	D	0.000071	T	0.22589	0.0545	L	0.58669	1.825	0.44380	D	0.997282	P;P;P	0.46277	0.802;0.776;0.875	B;B;B	0.40825	0.122;0.282;0.341	T	0.02352	-1.1172	10	0.54805	T	0.06	.	5.799	0.18403	0.3233:0.0:0.5523:0.1244	.	594;594;594	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	M	594	ENSP00000446299:L594M;ENSP00000421552:L594M;ENSP00000349629:L594M;ENSP00000422180:L594M	ENSP00000349629:L594M	L	-	1	2	LRBA	152040795	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	1.337000	0.33862	0.714000	0.32081	0.655000	0.94253	CTG		0.413	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			T	151821345	G	T	151821345	3	4	624	1	0	0	0	0	1	0	0	0	8933	933	33	4	6991	4	LRBA	4	151821345	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08	47739540	151821345	39332931	23	33977											
WWC2	80014	hgsc.bcm.edu	37	4	184182067	184182067	+	Missense_Mutation	SNP	T	T	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr4:184182067T>A	ENST00000403733.3	+	11	1490	c.1291T>A	c.(1291-1293)Tct>Act	p.S431T	WWC2_ENST00000504005.1_Missense_Mutation_p.S113T|WWC2_ENST00000513834.1_Missense_Mutation_p.S431T|WWC2_ENST00000448232.2_Missense_Mutation_p.S431T|WWC2_ENST00000378925.3_Missense_Mutation_p.S333T	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	431	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TTTCAGCCTCTCTGCCAGCAC	0.507																																																0													29	29	29					4																	184182067		2203	4300	6503	SO:0001583	missense	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1291T>A	chr4.hg19:g.184182067T>A	ENSP00000384222:p.Ser431Thr		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	hg19	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.551586	0.86127	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000002	T	0.65207	0.2669	M	0.80183	2.485	0.58432	D	0.999996	D	0.69078	0.997	D	0.75020	0.985	T	0.68864	-0.5296	10	0.49607	T	0.09	-16.2476	14.628	0.68635	0.0:0.0:0.0:1.0	.	431	Q6AWC2	WWC2_HUMAN	T	431;333;431;431;113	ENSP00000384222:S431T;ENSP00000368205:S333T;ENSP00000425054:S431T;ENSP00000398577:S431T;ENSP00000427569:S113T	ENSP00000368205:S333T	S	+	1	0	WWC2	184419061	1.000000	0.71417	0.993000	0.49108	0.935000	0.57460	7.833000	0.86765	2.046000	0.60703	0.528000	0.53228	TCT		0.507	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		A	184182067	T	A	184182067	3	1	624	1	0	0	0	0	1	0	0	0	17417	1551	54	5	1333	5	WWC2	4	184182067	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	32360722	184182067	6972209	24	33978											
KIAA0947	23379	hgsc.bcm.edu	37	5	5461992	5461992	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr5:5461992A>T	ENST00000296564.7	+	13	2767	c.2545A>T	c.(2545-2547)Acc>Tcc	p.T849S		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		849					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGAATTCAAGACCACTGCATC	0.413																																																0													92	87	89					5																	5461992		1888	4110	5998	SO:0001583	missense	23379																														ENST00000296564.7:c.2545A>T	chr5.hg19:g.5461992A>T	ENSP00000296564:p.Thr849Ser		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	hg19	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	a	5.614	0.297970	0.10622	.	.	ENSG00000164151	ENST00000296564	T	0.09445	2.98	4.94	0.61	0.17580	.	0.400941	0.21055	N	0.080924	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.20780	0.048	B	0.14023	0.01	T	0.43750	-0.9372	10	0.20046	T	0.44	-7.0261	7.5819	0.27970	0.1086:0.5191:0.3723:0.0	.	849	Q9Y2F5	K0947_HUMAN	S	849	ENSP00000296564:T849S	ENSP00000296564:T849S	T	+	1	0	KIAA0947	5514992	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	0.042000	0.13949	-0.216000	0.10048	0.378000	0.23410	ACC		0.413	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			T	5461992	A	T	5461992	3	4	624	1	0	0	0	0	1	0	0	0	8204	275	10	5	2595	5	KIAA0947	5	5461992	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08		5461992	175453268	25	33979											
ITGA1	3672	hgsc.bcm.edu	37	5	52211309	52211309	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr5:52211309G>T	ENST00000282588.6	+	15	2331	c.1873G>T	c.(1873-1875)Ggg>Tgg	p.G625W		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	625					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCCATCAGGTGGGGATGGTAA	0.388																																																0													146	147	147					5																	52211309		2203	4300	6503	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1873G>T	chr5.hg19:g.52211309G>T	ENSP00000282588:p.Gly625Trp		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	hg19	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672050	0.88348	.	.	ENSG00000213949	ENST00000282588	T	0.56103	0.48	5.53	5.53	0.82687	.	0.053424	0.85682	D	0.000000	T	0.69557	0.3124	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	D	0.68192	0.956	T	0.65693	-0.6106	10	0.38643	T	0.18	.	19.8228	0.96604	0.0:0.0:1.0:0.0	.	625	P56199	ITA1_HUMAN	W	625	ENSP00000282588:G625W	ENSP00000282588:G625W	G	+	1	0	ITGA1	52247066	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.066000	0.93949	2.759000	0.94783	0.650000	0.86243	GGG		0.388	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		T	52211309	G	T	52211309	3	4	624	1	0	0	0	0	1	0	0	0	7874	1348	47	4	1931	4	ITGA1	5	52211309	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08	46749317	52211309	128703951	26	33980											
LHFPL2	10184	hgsc.bcm.edu	37	5	77784725	77784725	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr5:77784725G>A	ENST00000515007.2	-	3	992	c.682C>T	c.(682-684)Ctt>Ttt	p.L228F	LHFPL2_ENST00000380345.2_Missense_Mutation_p.L228F			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	228						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		CCAAACTAAAGGAGGCAGATC	0.408																																																0													128	127	127					5																	77784725		2203	4300	6503	SO:0001583	missense	10184			D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.682C>T	chr5.hg19:g.77784725G>A	ENSP00000425906:p.Leu228Phe		B2RMQ6|Q7Z5P0|Q92605	Missense_Mutation	SNP	ENST00000515007.2	hg19	CCDS4042.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026712	0.93518	.	.	ENSG00000145685	ENST00000380345;ENST00000515007	T;T	0.78924	-1.22;-1.22	5.94	5.94	0.96194	.	0.055945	0.64402	D	0.000001	D	0.84115	0.5401	M	0.72118	2.19	0.80722	D	1	P	0.50272	0.933	P	0.51193	0.662	D	0.85187	0.1007	10	0.72032	D	0.01	.	19.3618	0.94442	0.0:0.0:1.0:0.0	.	228	Q6ZUX7	LHPL2_HUMAN	F	228	ENSP00000369702:L228F;ENSP00000425906:L228F	ENSP00000369702:L228F	L	-	1	0	LHFPL2	77820481	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.476000	0.97823	2.820000	0.97059	0.650000	0.86243	CTT		0.408	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		A	77784725	G	A	77784725	3	1	624	1	0	0	0	0	1	0	0	0	8767	1000	35	2	8	2	LHFPL2	5	77784725	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08	25573416	77784725	103130535	27	33981											
PCDHB14	56122	hgsc.bcm.edu	37	5	140605207	140605207	+	Silent	SNP	G	G	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr5:140605207G>C	ENST00000239449.4	+	1	2130	c.2130G>C	c.(2128-2130)gcG>gcC	p.A710A	PCDHB14_ENST00000515856.2_Silent_p.A557A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	710					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.701																																					Ovarian(141;50 1831 27899 33809 37648)											0													68	84	79					5																	140605207		2184	4245	6429	SO:0001819	synonymous_variant	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2130G>C	chr5.hg19:g.140605207G>C			B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	hg19	CCDS4256.1																																																																																				0.701	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		C	140605207	G	C	140605207	2	2	624	1	0	0	0	0	0	0	0	1	11541	1103	39	4		4	PCDHB14	5	140605207	Silent	SNP	G	TCGA-DW-7840-01A-11D-2136-08	62820482	140605207	40310053	28	33982											
C6orf105	84830	hgsc.bcm.edu	37	6	11723657	11723657	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:11723657delC	ENST00000414691.3	-	5	993	c.583delG	c.(583-585)gctfs	p.A195fs	ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000379413.2_Frame_Shift_Del_p.A195fs|ADTRP_ENST00000229583.5_Frame_Shift_Del_p.A213fs	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GAGAAGAAAGCTGCTAGACCC	0.483																																																0													209	208	209					6																	11723657		2203	4300	6503	SO:0001589	frameshift_variant	84830			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.583delG	chr6.hg19:g.11723657delC	ENSP00000404416:p.Ala195fs		B2R7T9|B4DV39|Q5THW1	Frame_Shift_Del	DEL	ENST00000414691.3	hg19	CCDS4521.1																																																																																				0.483	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		-	11723657	C	-	11723657	7	5	624	1	0	1	0	1	0	0	0	0	2320	797	28	0	117	0	C6orf105	6	11723657	Frame_Shift_Del	DEL	C	TCGA-DW-7840-01A-11D-2136-08		11723657	159391410	29	33983											
SLC22A7	10864	hgsc.bcm.edu	37	6	43267444	43267444	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:43267444T>C	ENST00000372585.5	+	4	678	c.583T>C	c.(583-585)Tat>Cat	p.Y195H	SLC22A7_ENST00000372589.3_Missense_Mutation_p.Y193H|SLC22A7_ENST00000372574.3_Missense_Mutation_p.Y193H|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	195					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTCCGTCAGCTATGTAATGTT	0.602																																																0													91	89	89					6																	43267444		2203	4300	6503	SO:0001583	missense	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.583T>C	chr6.hg19:g.43267444T>C	ENSP00000361666:p.Tyr195His		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	hg19	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776980	0.90195	.	.	ENSG00000137204	ENST00000451757;ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.068530	0.64402	D	0.000011	T	0.73273	0.3566	M	0.92077	3.27	0.45295	D	0.998297	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.99;0.986	T	0.80795	-0.1223	10	0.72032	D	0.01	.	13.2267	0.59919	0.0:0.0:0.0:1.0	.	195;193;193	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	H	64;254;193;195;193	ENSP00000416052:Y64H;ENSP00000411818:Y254H;ENSP00000361670:Y193H;ENSP00000361666:Y195H;ENSP00000361655:Y193H	ENSP00000361655:Y193H	Y	+	1	0	SLC22A7	43375422	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.783000	0.62403	2.109000	0.64355	0.379000	0.24179	TAT		0.602	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			C	43267444	T	C	43267444	3	2	624	1	0	0	0	0	1	0	0	0	14465	1522	53	3	593	3	SLC22A7	6	43267444	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	31543787	43267444	127847623	30	33984											
EPHA7	2045	hgsc.bcm.edu	37	6	93969151	93969151	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:93969151C>A	ENST00000369303.4	-	10	2029	c.1845G>T	c.(1843-1845)gaG>gaT	p.E615D		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	615					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TATTTGGGTCCTCATAGGTTT	0.428																																																0													221	199	206					6																	93969151		2203	4300	6503	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1845G>T	chr6.hg19:g.93969151C>A	ENSP00000358309:p.Glu615Asp		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	hg19	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622257	0.28889	.	.	ENSG00000135333	ENST00000369303	T	0.22336	1.96	5.9	5.9	0.94986	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.37320	0.0999	M	0.91972	3.26	0.80722	D	1	B;B;B	0.33755	0.424;0.002;0.001	P;B;B	0.46419	0.516;0.002;0.001	T	0.26538	-1.0100	10	0.59425	D	0.04	.	14.4356	0.67279	0.0:0.93:0.0:0.07	.	611;610;615	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	D	615	ENSP00000358309:E615D	ENSP00000358309:E615D	E	-	3	2	EPHA7	94025872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.753000	0.38359	2.786000	0.95864	0.563000	0.77884	GAG		0.428	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			A	93969151	C	A	93969151	3	1	624	1	0	0	0	0	1	0	0	0	5174	680	24	4	1183	4	EPHA7	6	93969151	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08	50701707	93969151	77145916	31	33985											
AIM1	202	hgsc.bcm.edu	37	6	106967843	106967843	+	Frame_Shift_Del	DEL	T	T	-	rs551716379		TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:106967843delT	ENST00000369066.3	+	2	2023	c.1536delT	c.(1534-1536)aatfs	p.N512fs		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTCAGAACAATGAGAAAATGC	0.453																																																0													82	90	87					6																	106967843		2203	4300	6503	SO:0001589	frameshift_variant	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1536delT	chr6.hg19:g.106967843delT	ENSP00000358062:p.Asn512fs		Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	ENST00000369066.3	hg19	CCDS34506.1																																																																																				0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			-	106967843	T	-	106967843	7	5	624	1	0	1	0	1	0	0	0	0	430	1461	51	0	1542	0	AIM1	6	106967843	Frame_Shift_Del	DEL	T	TCGA-DW-7840-01A-11D-2136-08	12998692	106967843	64147224	32	33986											
SOBP	55084	hgsc.bcm.edu	37	6	107827597	107827597	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:107827597delT	ENST00000317357.5	+	3	1046	c.387delT	c.(385-387)cctfs	p.P129fs		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TTATTGTACCTTTAATTCCAC	0.423																																																0													204	194	197					6																	107827597		1912	4142	6054	SO:0001589	frameshift_variant	55084			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.387delT	chr6.hg19:g.107827597delT	ENSP00000318900:p.Pro129fs			Frame_Shift_Del	DEL	ENST00000317357.5	hg19	CCDS43488.1																																																																																				0.423	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		-	107827597	T	-	107827597	7	5	624	1	0	1	0	1	0	0	0	0	14918	1596	56	0	397	0	SOBP	6	107827597	Frame_Shift_Del	DEL	T	TCGA-DW-7840-01A-11D-2136-08	859754	107827597	63287470	33	33987											
OSTM1	28962	hgsc.bcm.edu	37	6	108395713	108395713	+	Missense_Mutation	SNP	G	G	C	rs201176284	byFrequency	TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:108395713G>C	ENST00000193322.3	-	1	228	c.143C>G	c.(142-144)tCg>tGg	p.S48W		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	48					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		CTGCTGCTCCGACAGGAGGTC	0.711													G|||	5	0.000998403	0.0038	0.0	5008	,	,		12709	0.0		0.0	False		,,,				2504	0.0				Melanoma(162;1427 1909 3096 17430 21396)											0								G	TRP/SER	12,4304		0,12,2146	7	7	7		143	4.1	1	6		7	0,8426		0,0,4213	yes	missense	OSTM1	NM_014028.3	177	0,12,6359	CC,CG,GG		0.0,0.278,0.0942	probably-damaging	48/335	108395713	12,12730	2158	4213	6371	SO:0001583	missense	28962			AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"CLCN7 accessory beta subunit"	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.143C>G	chr6.hg19:g.108395713G>C	ENSP00000193322:p.Ser48Trp		E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Missense_Mutation	SNP	ENST00000193322.3	hg19	CCDS5062.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828523	0.71258	0.00278	0.0	ENSG00000081087	ENST00000193322	T	0.55234	0.53	4.96	4.08	0.47627	.	0.095194	0.43110	D	0.000605	T	0.37865	0.1019	M	0.70595	2.14	0.44627	D	0.9976	B	0.16166	0.016	B	0.14023	0.01	T	0.48281	-0.9049	10	0.87932	D	0	-17.7201	12.5335	0.56128	0.0:0.1806:0.8194:0.0	.	48	Q86WC4	OSTM1_HUMAN	W	48	ENSP00000193322:S48W	ENSP00000193322:S48W	S	-	2	0	OSTM1	108502406	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.376000	0.66178	1.199000	0.43173	0.655000	0.94253	TCG		0.711	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041709.3	NM_014028		C	108395713	G	C	108395713	3	2	624	1	0	0	0	0	1	0	0	0	11300	1059	37	4	885	4	OSTM1	6	108395713	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08	568116	108395713	62719354	34	33988											
MAP3K4	4216	hgsc.bcm.edu	37	6	161470014	161470014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:161470014C>A	ENST00000392142.4	+	3	858	c.710C>A	c.(709-711)tCa>tAa	p.S237*	MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.S237*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.S237*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.S237*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	237					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.S237L(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGCTTACCTCAGTCTCAAAG	0.433																																																2	Substitution - Missense(2)	cervix(2)											41	41	41					6																	161470014		2203	4300	6503	SO:0001587	stop_gained	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.710C>A	chr6.hg19:g.161470014C>A	ENSP00000375986:p.Ser237*		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_Mutation	SNP	ENST00000392142.4	hg19	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	38	6.894608	0.97916	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	6.14	6.14	0.99180	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6238	20.819	0.99723	0.0:1.0:0.0:0.0	.	.	.	.	X	237	.	ENSP00000297332:S237X	S	+	2	0	MAP3K4	161390004	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.454000	0.80714	2.927000	0.99377	0.637000	0.83480	TCA		0.433	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			A	161470014	C	A	161470014	4	1	624	1	0	0	0	0	0	1	0	0	9254	838	29	4	720	4	MAP3K4	6	161470014	Nonsense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08	53074301	161470014	9645053	35	33989											
HEATR2	54919	hgsc.bcm.edu	37	7	803456	803456	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:803456T>G	ENST00000297440.6	+	8	1648	c.1628T>G	c.(1627-1629)aTg>aGg	p.M543R	HEATR2_ENST00000313147.5_Missense_Mutation_p.M543R	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	543						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CAGGAGACGATGGACTCACTG	0.607																																																0													132	110	117					7																	803456		2202	4300	6502	SO:0001583	missense	54919			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1628T>G	chr7.hg19:g.803456T>G	ENSP00000297440:p.Met543Arg		Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	hg19	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.28|14.28	2.488084|2.488084	0.44249|0.44249	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.67523	.|-0.27;-0.27	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.303789	.|0.36893	.|N	.|0.002346	T|T	0.70055|0.70055	0.3180|0.3180	M|M	0.68317|0.68317	2.08|2.08	0.09310|0.09310	N|N	0.999993|0.999993	.|P;P	.|0.45715	.|0.788;0.865	.|B;P	.|0.45610	.|0.272;0.487	T|T	0.68070|0.68070	-0.5506|-0.5506	5|10	.|0.72032	.|D	.|0.01	-30.0578|-30.0578	15.0356|15.0356	0.71744|0.71744	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|543;289	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	E|R	344|543;543;289	.|ENSP00000297440:M543R;ENSP00000321451:M543R	.|ENSP00000297440:M543R	D|M	+|+	3|2	2|0	HEATR2|HEATR2	769982|769982	0.998000|0.998000	0.40836|0.40836	0.021000|0.021000	0.16686|0.16686	0.005000|0.005000	0.04900|0.04900	2.733000|2.733000	0.47360|0.47360	2.008000|2.008000	0.58898|0.58898	0.459000|0.459000	0.35465|0.35465	GAT|ATG		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		G	803456	T	G	803456	3	3	624	1	0	0	0	0	1	0	0	0	7030	1464	51	5	1658	5	HEATR2	7	803456	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08		803456	158335207	36	33990											
PKD1L1	168507	hgsc.bcm.edu	37	7	47870900	47870900	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:47870900G>C	ENST00000289672.2	-	42	6438	c.6388C>G	c.(6388-6390)Cag>Gag	p.Q2130E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2130					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CACCAAGGCTGAAGGGCCCTT	0.562																																																0													93	83	86					7																	47870900		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6388C>G	chr7.hg19:g.47870900G>C	ENSP00000289672:p.Gln2130Glu		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	8.099	0.776205	0.16051	.	.	ENSG00000158683	ENST00000289672	T	0.18960	2.18	5.1	2.25	0.28309	.	1.969070	0.02438	N	0.084314	T	0.13157	0.0319	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.23655	-1.0182	10	0.06625	T	0.88	1.9044	4.372	0.11253	0.1915:0.0:0.629:0.1795	.	2130	Q8TDX9	PK1L1_HUMAN	E	2130	ENSP00000289672:Q2130E	ENSP00000289672:Q2130E	Q	-	1	0	PKD1L1	47837425	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.141000	0.16076	0.166000	0.19597	0.563000	0.77884	CAG		0.562	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		C	47870900	G	C	47870900	3	2	624	1	0	0	0	0	1	0	0	0	11966	1299	45	4	2225	4	PKD1L1	7	47870900	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08	47067444	47870900	111267763	37	33991											
COL1A2	1278	hgsc.bcm.edu	37	7	94057039	94057039	+	Missense_Mutation	SNP	G	G	T	rs145541630		TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:94057039G>T	ENST00000297268.6	+	49	3839	c.3368G>T	c.(3367-3369)cGc>cTc	p.R1123L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1123				Missing (in Ref. 17; CAA23761). {ECO:0000305}.	blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GACCAGCCTCGCTCAGCACCT	0.547										HNSCC(75;0.22)																																						0													98	97	98					7																	94057039		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3368G>T	chr7.hg19:g.94057039G>T	ENSP00000297268:p.Arg1123Leu		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	hg19	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401592	0.62288	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.89552	-2.53	5.71	5.71	0.89125	.	0.000000	0.56097	D	0.000040	D	0.88757	0.6523	N	0.14661	0.345	0.34308	D	0.68511	D	0.60160	0.987	D	0.67725	0.953	D	0.90766	0.4668	10	0.41790	T	0.15	.	15.7376	0.77859	0.0:0.0:1.0:0.0	.	1123	P08123	CO1A2_HUMAN	L	1123;1124	ENSP00000297268:R1123L	ENSP00000297268:R1123L	R	+	2	0	COL1A2	93894975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.489000	0.60309	2.873000	0.98535	0.561000	0.74099	CGC		0.547	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		T	94057039	G	T	94057039	3	4	624	1	0	0	0	0	1	0	0	0	3680	1087	38	4	3562	4	COL1A2	7	94057039	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08	46186139	94057039	65081624	38	33992											
SRRT	51593	hgsc.bcm.edu	37	7	100485469	100485473	+	Frame_Shift_Del	DEL	GCCCC	GCCCC	-	rs568329863		TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	GCCCC	GCCCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:100485469_100485473delGCCCC	ENST00000347433.4	+	17	2473_2477	c.2315_2319delGCCCC	c.(2314-2319)ggccccfs	p.GP772fs	SRRT_ENST00000457580.2_Frame_Shift_Del_p.GP772fs|SRRT_ENST00000388793.4_Frame_Shift_Del_p.GP771fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.GP771fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	772	Pro-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGCCACCTGGCCCCGCCCAGAGTA	0.512																																																0																																										SO:0001589	frameshift_variant	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2315_2319delGCCCC	chr7.hg19:g.100485469_100485473delGCCCC	ENSP00000314491:p.Gly772fs		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Del	DEL	ENST00000347433.4	hg19	CCDS34709.1																																																																																				0.512	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		-	100485473	GCCCC	-	100485469	7	5	624	1	0	1	0	1	0	0	0	0	15177	1203	42	0	2377	0	SRRT	7	100485469	Frame_Shift_Del	DEL	GCCCC	TCGA-DW-7840-01A-11D-2136-08	6428430	100485469	58653194	39	33993											
GPR37	2861	hgsc.bcm.edu	37	7	124404923	124404923	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:124404923G>C	ENST00000303921.2	-	1	758	c.108C>G	c.(106-108)aaC>aaG	p.N36K		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	36					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GACAAGTTTCGTTTCTGGACG	0.652																																																0													23	24	24					7																	124404923		2203	4300	6503	SO:0001583	missense	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.108C>G	chr7.hg19:g.124404923G>C	ENSP00000306449:p.Asn36Lys		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	hg19	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	6.209	0.406650	0.11754	.	.	ENSG00000170775	ENST00000303921	T	0.08896	3.04	5.31	-0.565	0.11771	.	0.220305	0.48286	N	0.000186	T	0.04861	0.0131	L	0.27053	0.805	0.09310	N	0.999998	B	0.09022	0.002	B	0.06405	0.002	T	0.30001	-0.9993	10	0.49607	T	0.09	-16.1704	4.5608	0.12160	0.2984:0.3038:0.3978:0.0	.	36	O15354	GPR37_HUMAN	K	36	ENSP00000306449:N36K	ENSP00000306449:N36K	N	-	3	2	GPR37	124192159	0.000000	0.05858	0.005000	0.12908	0.024000	0.10985	0.501000	0.22578	-0.292000	0.08999	0.655000	0.94253	AAC		0.652	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		C	124404923	G	C	124404923	3	2	624	1	0	0	0	0	1	0	0	0	6693	1136	40	4	1741	4	GPR37	7	124404923	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08	23919454	124404923	34733740	40	33994											
MLL3	58508	hgsc.bcm.edu	37	7	151962168	151962168	+	Missense_Mutation	SNP	C	C	G	rs138908625	byFrequency	TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:151962168C>G	ENST00000262189.6	-	8	1357	c.1139G>C	c.(1138-1140)cGt>cCt	p.R380P	KMT2C_ENST00000355193.2_Missense_Mutation_p.R380P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	380					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R380L(4)									CCAACCTGCACGTTTTAATGG	0.443																																																4	Substitution - Missense(4)	skin(4)											410	369	383					7																	151962168		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1139G>C	chr7.hg19:g.151962168C>G	ENSP00000262189:p.Arg380Pro		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	hg19	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337586	0.41398	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98849	-5.18;-5.18	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38548	U	0.001645	D	0.98701	0.9564	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.99905	1.1175	10	0.66056	D	0.02	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	380	Q8NEZ4	MLL3_HUMAN	P	380	ENSP00000262189:R380P;ENSP00000347325:R380P	ENSP00000262189:R380P	R	-	2	0	MLL3	151593101	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	6.039000	0.70972	2.271000	0.75665	0.557000	0.71058	CGT		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			G	151962168	C	G	151962168	3	3	624	1	0	0	0	0	1	0	0	0	9624	536	19	4	13804	4	MLL3	7	151962168	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08	27557245	151962168	7176495	41	33995											
SETX	23064	hgsc.bcm.edu	37	9	135156906	135156906	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr9:135156906T>C	ENST00000224140.5	-	20	6784	c.6602A>G	c.(6601-6603)aAg>aGg	p.K2201R	SETX_ENST00000393220.1_Missense_Mutation_p.K2201R|SETX_ENST00000372169.2_Missense_Mutation_p.K2201R	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2201					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAGGATGAGCTTATTGCAGCG	0.418																																																0													127	117	121					9																	135156906		2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6602A>G	chr9.hg19:g.135156906T>C	ENSP00000224140:p.Lys2201Arg		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	hg19	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263460	0.59431	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.56	5.56	0.83823	.	0.148494	0.47455	D	0.000240	D	0.85141	0.5629	N	0.25825	0.765	0.37682	D	0.923524	B;D;D	0.69078	0.123;0.99;0.997	B;D;D	0.77557	0.42;0.956;0.99	D	0.86395	0.1738	10	0.36615	T	0.2	.	14.907	0.70727	0.0:0.0:0.0:1.0	.	2201;2201;2201	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	R	2201;443;2201;2201	ENSP00000224140:K2201R;ENSP00000409143:K443R;ENSP00000361242:K2201R;ENSP00000376913:K2201R	ENSP00000224140:K2201R	K	-	2	0	SETX	134146727	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	3.550000	0.53691	2.123000	0.65237	0.528000	0.53228	AAG		0.418	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		C	135156906	T	C	135156906	3	2	624	1	0	0	0	0	1	0	0	0	14147	1609	56	3	1459	3	SETX	9	135156906	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08		135156906	6056525	42	33996											
SUV39H2	79723	hgsc.bcm.edu	37	10	14939337	14939338	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:14939337_14939338AC>TT	ENST00000354919.6	+	3	670_671	c.670_671AC>TT	c.(670-672)ACt>TTt	p.T224F	SUV39H2_ENST00000313519.5_Missense_Mutation_p.T164F|SUV39H2_ENST00000378325.3_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	224	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CCCACCTGGTACTCCCATCTAT	0.396																																																0																																										SO:0001583	missense	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	Exception_encountered	chr10.hg19:g.14939337_14939338delinsTT	ENSP00000346997:p.Thr224Phe		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	hg19	CCDS53494.1																																																																																				0.396	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		TT	14939338	AC	TT	14939337	3	4	624	1	0	0	0	0	1	0	0	0	15418	391	14	5	492	5	SUV39H2	10	14939337	Missense_Mutation	DNP	AC	TCGA-DW-7840-01A-11D-2136-08		14939337	120595410	43	33997											
KIAA1217	56243	hgsc.bcm.edu	37	10	24835172	24835172	+	Silent	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:24835172T>C	ENST00000376454.3	+	21	5781	c.5751T>C	c.(5749-5751)caT>caC	p.H1917H	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Silent_p.H1348H|KIAA1217_ENST00000376462.1_Silent_p.H1238H|KIAA1217_ENST00000458595.1_Silent_p.H1323H|KIAA1217_ENST00000396445.1_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1917					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGACCATCCATACTCCCAGCC	0.532																																																0													76	70	72					10																	24835172		2203	4300	6503	SO:0001819	synonymous_variant	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5751T>C	chr10.hg19:g.24835172T>C			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	hg19	CCDS31165.1																																																																																				0.532	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		C	24835172	T	C	24835172	2	2	624	1	0	0	0	0	0	0	0	1	8218	1403	49	3		3	KIAA1217	10	24835172	Silent	SNP	T	TCGA-DW-7840-01A-11D-2136-08	9895835	24835172	110699575	44	33998											
ARMC4	55130	hgsc.bcm.edu	37	10	28270470	28270470	+	Silent	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:28270470T>C	ENST00000305242.5	-	7	953	c.861A>G	c.(859-861)aaA>aaG	p.K287K	ARMC4_ENST00000239715.3_Silent_p.K144K|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	287					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AAATTGAACCTTTTCTCTCAT	0.294																																																0													99	104	102					10																	28270470		2202	4296	6498	SO:0001819	synonymous_variant	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.861A>G	chr10.hg19:g.28270470T>C			A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	hg19	CCDS7157.1																																																																																				0.294	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		C	28270470	T	C	28270470	2	2	624	1	0	0	0	0	0	0	0	1	953	1606	56	3		3	ARMC4	10	28270470	Silent	SNP	T	TCGA-DW-7840-01A-11D-2136-08	3435298	28270470	107264277	45	33999											
CUL2	8453	hgsc.bcm.edu	37	10	35324145	35324145	+	Silent	SNP	G	G	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:35324145G>T	ENST00000374748.1	-	11	1270	c.957C>A	c.(955-957)atC>atA	p.I319I	CUL2_ENST00000374751.3_Silent_p.I319I|CUL2_ENST00000602371.1_Silent_p.I262I|CUL2_ENST00000374749.3_Silent_p.I319I|CUL2_ENST00000537177.1_Silent_p.I338I|CUL2_ENST00000374746.1_Silent_p.I319I|CUL2_ENST00000374742.1_Silent_p.I319I			Q13617	CUL2_HUMAN	cullin 2	319					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CCTCATCATGGATGTGGTTTT	0.473																																																0													155	126	136					10																	35324145		2203	4300	6503	SO:0001819	synonymous_variant	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.957C>A	chr10.hg19:g.35324145G>T			B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Silent	SNP	ENST00000374748.1	hg19	CCDS7179.1																																																																																				0.473	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		T	35324145	G	T	35324145	2	4	624	1	0	0	0	0	0	0	0	1	4057	1164	41	4		4	CUL2	10	35324145	Silent	SNP	G	TCGA-DW-7840-01A-11D-2136-08	7053675	35324145	100210602	46	34000											
ALOX5	240	hgsc.bcm.edu	37	10	45869784	45869784	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:45869784C>A	ENST00000374391.2	+	1	110	c.57C>A	c.(55-57)gaC>gaA	p.D19E	ALOX5_ENST00000542434.1_Missense_Mutation_p.D19E	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	19	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CCGGCACTGACGACTACATCT	0.701																																																0													28	19	22					10																	45869784		2161	4260	6421	SO:0001583	missense	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.57C>A	chr10.hg19:g.45869784C>A	ENSP00000363512:p.Asp19Glu		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	hg19	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.210677	0.39102	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.66280	-0.2;-0.2	4.82	1.81	0.25067	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.051214	0.85682	D	0.000000	T	0.75042	0.3796	M	0.88310	2.945	0.49798	D	0.999823	D;D;D	0.76494	0.998;0.999;0.985	P;D;P	0.69142	0.757;0.962;0.554	T	0.70651	-0.4813	10	0.30854	T	0.27	-37.9305	4.7968	0.13276	0.0:0.5691:0.1591:0.2717	.	19;19;19	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	E	19	ENSP00000437634:D19E;ENSP00000363512:D19E	ENSP00000363512:D19E	D	+	3	2	ALOX5	45189790	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	1.011000	0.29911	0.420000	0.25954	-0.533000	0.04299	GAC		0.701	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			A	45869784	C	A	45869784	3	1	624	1	0	0	0	0	1	0	0	0	540	535	19	4	59	4	ALOX5	10	45869784	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08	10545639	45869784	89664963	47	34001											
GRID1	2894	hgsc.bcm.edu	37	10	87407050	87407050	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:87407050T>C	ENST00000327946.7	-	13	2187	c.2102A>G	c.(2101-2103)cAg>cGg	p.Q701R	RN7SKP238_ENST00000516483.1_RNA|RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.Q272R	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	701					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CGTGCTGTCCTGCTCCAGGGG	0.552										Multiple Myeloma(13;0.14)																																						0													271	252	259					10																	87407050		2203	4300	6503	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2102A>G	chr10.hg19:g.87407050T>C	ENSP00000330148:p.Gln701Arg		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	hg19	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261225	0.39995	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.27402	1.67;1.67	5.7	5.7	0.88788	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	N	0.11106	0.095	0.80722	D	1	D	0.59357	0.985	D	0.74023	0.982	T	0.28650	-1.0037	10	0.26408	T	0.33	.	15.1462	0.72653	0.0:0.0:0.0:1.0	.	701	Q9ULK0	GRID1_HUMAN	R	701;272	ENSP00000330148:Q701R;ENSP00000444455:Q272R	ENSP00000330148:Q701R	Q	-	2	0	GRID1	87397030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.175000	0.68902	0.528000	0.53228	CAG		0.552	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		C	87407050	T	C	87407050	3	2	624	1	0	0	0	0	1	0	0	0	6773	1580	55	3	943	3	GRID1	10	87407050	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	41537266	87407050	48127697	48	34002											
NRAP	4892	hgsc.bcm.edu	37	10	115411657	115411657	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:115411657T>C	ENST00000359988.3	-	7	824	c.580A>G	c.(580-582)Aag>Gag	p.K194E	NRAP_ENST00000360478.3_Missense_Mutation_p.K194E|NRAP_ENST00000369360.3_Missense_Mutation_p.K194E|NRAP_ENST00000369358.4_Missense_Mutation_p.K194E	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCCCTCTCTTATACTCCACC	0.547																																																0													108	88	94					10																	115411657		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.580A>G	chr10.hg19:g.115411657T>C	ENSP00000353078:p.Lys194Glu			Missense_Mutation	SNP	ENST00000359988.3	hg19	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719870	0.68844	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	6.03	6.03	0.97812	.	0.044427	0.85682	D	0.000000	D	0.82393	0.5027	M	0.87827	2.91	0.43988	D	0.996689	D;D;D	0.59357	0.985;0.982;0.985	P;P;D	0.64506	0.868;0.879;0.926	D	0.85146	0.0983	10	0.66056	D	0.02	.	12.952	0.58407	0.0:0.0:0.0:1.0	.	194;194;194	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	E	194	ENSP00000358365:K194E;ENSP00000358367:K194E;ENSP00000353078:K194E;ENSP00000353666:K194E	ENSP00000353078:K194E	K	-	1	0	NRAP	115401647	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	6.117000	0.71577	2.313000	0.78055	0.454000	0.30748	AAG		0.547	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		C	115411657	T	C	115411657	3	2	624	1	0	0	0	0	1	0	0	0	10640	1763	61	3	4756	3	NRAP	10	115411657	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	28004607	115411657	20123090	49	34003											
IFITM1	8519	hgsc.bcm.edu	37	11	315058	315058	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:315058C>G	ENST00000408968.3	+	2	641	c.323C>G	c.(322-324)tCt>tGt	p.S108C	IFITM1_ENST00000528780.1_Missense_Mutation_p.S108C|IFITM1_ENST00000328221.5_Missense_Mutation_p.S108C	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	108	Interaction with CAV1.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTATTCGGCTCTGTGACAGTC	0.507																																																0													129	129	129					11																	315058		1942	4128	6070	SO:0001583	missense	8519			J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"CD molecules"	5412	protein-coding gene	gene with protein product	"interferon-induced transmembrane protein 1"	604456	"interferon induced transmembrane protein 1 (9-27)"	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.323C>G	chr11.hg19:g.315058C>G	ENSP00000386187:p.Ser108Cys		Q15322|Q53XZ0	Missense_Mutation	SNP	ENST00000408968.3	hg19	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150346	0.37923	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968	T;T;T	0.80304	-1.36;-1.36;-1.36	3.73	-0.746	0.11095	.	.	.	.	.	T	0.61578	0.2358	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.45571	-0.9252	9	0.38643	T	0.18	.	0.8934	0.01259	0.1942:0.4108:0.1719:0.2231	.	108	P13164	IFM1_HUMAN	C	108	ENSP00000437057:S108C;ENSP00000330825:S108C;ENSP00000386187:S108C	ENSP00000330825:S108C	S	+	2	0	IFITM1	305058	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.419000	0.02460	-0.422000	0.07405	0.313000	0.20887	TCT		0.507	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		G	315058	C	G	315058	3	3	624	1	0	0	0	0	1	0	0	0	7528	913	32	4	329	4	IFITM1	11	315058	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08		315058	134691458	50	34004											
SIGIRR	59307	hgsc.bcm.edu	37	11	407548	407548	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:407548A>G	ENST00000431843.2	-	6	808	c.502T>C	c.(502-504)Tac>Cac	p.Y168H	SIGIRR_ENST00000332725.3_Missense_Mutation_p.Y168H|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000531205.1_Missense_Mutation_p.Y168H|SIGIRR_ENST00000397632.3_Missense_Mutation_p.Y168H|SIGIRR_ENST00000382520.2_Missense_Mutation_p.Y168H	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	168	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGGAGACGTAGGCGTCGTAG	0.647																																																0													26	27	27					11																	407548		2189	4291	6480	SO:0001583	missense	59307				CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.502T>C	chr11.hg19:g.407548A>G	ENSP00000403104:p.Tyr168His		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	hg19	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	a	17.94	3.510696	0.64522	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520;ENST00000528209	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	2.75	2.75	0.32379	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.240626	0.36303	N	0.002663	T	0.36082	0.0954	M	0.83118	2.625	0.58432	D	0.999999	D;D	0.76494	0.999;0.987	D;D	0.72625	0.978;0.944	T	0.30001	-0.9993	10	0.87932	D	0	.	10.2759	0.43510	1.0:0.0:0.0:0.0	.	168;168	C9JFX4;Q6IA17	.;SIGIR_HUMAN	H	168;168;168;168;168;64	ENSP00000403104:Y168H;ENSP00000380756:Y168H;ENSP00000333656:Y168H;ENSP00000433022:Y168H;ENSP00000371960:Y168H;ENSP00000435135:Y64H	ENSP00000333656:Y168H	Y	-	1	0	SIGIRR	397548	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	4.453000	0.60061	1.525000	0.49052	0.240000	0.17902	TAC		0.647	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		G	407548	A	G	407548	3	3	624	1	0	0	0	0	1	0	0	0	14310	420	15	3	750	3	SIGIRR	11	407548	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08	92490	407548	134598968	51	34005											
ALKBH3	221120	hgsc.bcm.edu	37	11	43905565	43905565	+	Silent	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:43905565T>C	ENST00000302708.4	+	4	627	c.216T>C	c.(214-216)atT>atC	p.I72I	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Silent_p.I72I	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	72					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	CACGAGTGATTGAGTAAGTAA	0.433								Direct reversal of damage																																								0													256	225	236					11																	43905565		2203	4300	6503	SO:0001819	synonymous_variant	221120			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"Alkylation repair homologs"	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.216T>C	chr11.hg19:g.43905565T>C			A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Silent	SNP	ENST00000302708.4	hg19	CCDS7906.1																																																																																				0.433	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178		C	43905565	T	C	43905565	2	2	624	1	0	0	0	0	0	0	0	1	528	1800	63	3		3	ALKBH3	11	43905565	Silent	SNP	T	TCGA-DW-7840-01A-11D-2136-08	43498017	43905565	91100951	52	34006											
PC	5091	hgsc.bcm.edu	37	11	66617140	66617141	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:66617140_66617141insG	ENST00000393958.2	-	20	3181_3182	c.3088_3089insC	c.(3088-3090)ctgfs	p.L1030fs	PC_ENST00000528224.1_5'UTR|PC_ENST00000529047.1_Frame_Shift_Ins_p.L150fs|PC_ENST00000393960.1_Frame_Shift_Ins_p.L1030fs|PC_ENST00000393955.2_Frame_Shift_Ins_p.L1030fs	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1030					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CAGGCTATCCAGGGGGCCAAAG	0.604																																																0																																										SO:0001589	frameshift_variant	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3089dupC	chr11.hg19:g.66617145_66617145dupG	ENSP00000377530:p.Leu1030fs		B4DN00|Q16705	Frame_Shift_Ins	INS	ENST00000393958.2	hg19	CCDS8152.1																																																																																				0.604	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		G	66617141	-	G	66617140	7	5	624	1	0	1	1	0	0	0	0	0	11499	188	7	0	459	0	PC	11	66617140	Frame_Shift_Ins	INS	-	TCGA-DW-7840-01A-11D-2136-08	22711575	66617140	68389376	53	34007											
PC	5091	hgsc.bcm.edu	37	11	66620716	66620716	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:66620716A>T	ENST00000393958.2	-	12	1600	c.1507T>A	c.(1507-1509)Tac>Aac	p.Y503N	PC_ENST00000529047.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.Y503N|PC_ENST00000393955.2_Missense_Mutation_p.Y503N	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	503					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGACCGAGGTAGTGCAACAGC	0.622																																																0													122	92	102					11																	66620716		2200	4295	6495	SO:0001583	missense	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1507T>A	chr11.hg19:g.66620716A>T	ENSP00000377530:p.Tyr503Asn		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	hg19	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.370348	0.61624	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.96745	-4.11;-4.11;-4.11	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	H	0.95780	3.72	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.98985	1.0806	10	0.87932	D	0	-24.4033	11.2003	0.48736	1.0:0.0:0.0:0.0	.	503	P11498	PYC_HUMAN	N	503	ENSP00000377527:Y503N;ENSP00000377530:Y503N;ENSP00000377532:Y503N	ENSP00000377527:Y503N	Y	-	1	0	PC	66377292	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	8.288000	0.89921	1.744000	0.51775	0.379000	0.24179	TAC		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		T	66620716	A	T	66620716	3	4	624	1	0	0	0	0	1	0	0	0	11499	420	15	5	2073	5	PC	11	66620716	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08	3576	66620716	68385800	54	34008											
PHLDB1	23187	hgsc.bcm.edu	37	11	118513026	118513026	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:118513026A>T	ENST00000361417.2	+	14	3202	c.2791A>T	c.(2791-2793)Atg>Ttg	p.M931L	PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000524713.1_Missense_Mutation_p.M74L|PHLDB1_ENST00000356063.5_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	931										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCAGGAGCTGATGGCCGGGCT	0.642																																																0													76	79	78					11																	118513026		2200	4295	6495	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2791A>T	chr11.hg19:g.118513026A>T	ENSP00000354498:p.Met931Leu		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	hg19	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870388	0.51588	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000524713	T;T	0.50813	1.52;0.73	5.14	5.14	0.70334	.	0.543120	0.21674	N	0.070828	T	0.34832	0.0911	L	0.40543	1.245	0.26911	N	0.966889	B;B;B	0.24576	0.106;0.039;0.01	B;B;B	0.25614	0.062;0.019;0.011	T	0.27706	-1.0066	10	0.02654	T	1	-9.3743	12.3456	0.55119	1.0:0.0:0.0:0.0	.	69;74;931	B7Z2B9;B4DK17;Q86UU1	.;.;PHLB1_HUMAN	L	931;690;295;74	ENSP00000354498:M931L;ENSP00000434905:M74L	ENSP00000350921:M295L	M	+	1	0	PHLDB1	118018236	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.723000	0.54955	1.925000	0.55765	0.379000	0.24179	ATG		0.642	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		T	118513026	A	T	118513026	3	4	624	1	0	0	0	0	1	0	0	0	11853	333	12	5	2837	5	PHLDB1	11	118513026	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08	51892310	118513026	16493490	55	34009											
LRP6	4040	hgsc.bcm.edu	37	12	12334248	12334248	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr12:12334248C>T	ENST00000261349.4	-	6	1178	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	LRP6_ENST00000543091.1_Missense_Mutation_p.D368N	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	368	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCACAGGATCGTAATCTATG	0.453																																																0													199	170	180					12																	12334248		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1102G>A	chr12.hg19:g.12334248C>T	ENSP00000261349:p.Asp368Asn		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	hg19	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848081	0.91277	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.92545	-3.06;-3.06	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000006	D	0.96396	0.8824	M	0.89534	3.04	0.80722	D	1	D;D	0.67145	0.994;0.996	P;P	0.57960	0.79;0.83	D	0.96559	0.9414	10	0.72032	D	0.01	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	368;368	F5H7J9;O75581	.;LRP6_HUMAN	N	368	ENSP00000261349:D368N;ENSP00000442472:D368N	ENSP00000261349:D368N	D	-	1	0	LRP6	12225515	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	5.999000	0.70665	2.752000	0.94435	0.655000	0.94253	GAT		0.453	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			T	12334248	C	T	12334248	3	4	624	1	0	0	0	0	1	0	0	0	8964	884	31	1	3811	1	LRP6	12	12334248	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08		12334248	121517647	56	34010											
PPFIA2	8499	hgsc.bcm.edu	37	12	81671123	81671123	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr12:81671123G>A	ENST00000549396.1	-	28	3443	c.3283C>T	c.(3283-3285)Cgg>Tgg	p.R1095W	PPFIA2_ENST00000407050.4_Missense_Mutation_p.R994W|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1089W|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R281W|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1083W|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R631W|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1080W|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R942W|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R990W|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R1095W|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1074W|PPFIA2_ENST00000545296.2_Intron|RP11-121G22.3_ENST00000549161.1_lincRNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1095					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTGCTTCCCGTCTTCTTTCT	0.274																																																0													130	117	121					12																	81671123		1797	4055	5852	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3283C>T	chr12.hg19:g.81671123G>A	ENSP00000450337:p.Arg1095Trp		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	hg19	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686642	0.68157	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.38240	1.92;1.93;1.55;1.15;1.5;1.92;1.92;1.6;1.85	5.71	3.83	0.44106	Sterile alpha motif/pointed domain (1);	0.131846	0.49916	D	0.000132	T	0.69178	0.3082	H	0.94847	3.59	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.77705	-0.2488	10	0.87932	D	0	-12.2793	13.6442	0.62270	0.0:0.0:0.4348:0.5652	.	1095	O75334	LIPA2_HUMAN	W	1095;1080;631;281;994;1106;1083;1089;990;1074	ENSP00000450337:R1095W;ENSP00000450298:R1080W;ENSP00000438337:R631W;ENSP00000445532:R281W;ENSP00000385093:R994W;ENSP00000327416:R1083W;ENSP00000449338:R1089W;ENSP00000388373:R990W;ENSP00000447868:R1074W	ENSP00000327416:R1083W	R	-	1	2	PPFIA2	80195254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.119000	0.50422	0.721000	0.32231	-0.181000	0.13052	CGG		0.274	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			A	81671123	G	A	81671123	3	1	624	1	0	0	0	0	1	0	0	0	12312	1144	40	1	510	1	PPFIA2	12	81671123	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08	69336875	81671123	52180772	57	34011											
RASSF9	9182	hgsc.bcm.edu	37	12	86199543	86199543	+	Missense_Mutation	SNP	T	T	C	rs367564230		TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr12:86199543T>C	ENST00000361228.3	-	2	613	c.245A>G	c.(244-246)aAg>aGg	p.K82R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	82	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCTCTCCACTTCTCTATGAT	0.473																																																0													95	95	95					12																	86199543		1885	4121	6006	SO:0001583	missense	9182				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.245A>G	chr12.hg19:g.86199543T>C	ENSP00000354884:p.Lys82Arg		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	hg19	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084459	0.55861	.	.	ENSG00000198774	ENST00000361228	T	0.46451	0.87	4.82	4.82	0.62117	Ras-association (2);	0.139782	0.47852	D	0.000216	T	0.30479	0.0766	L	0.33485	1.01	0.37061	D	0.898052	P	0.46784	0.884	B	0.39152	0.292	T	0.22487	-1.0215	10	0.16420	T	0.52	-5.5864	14.68	0.69009	0.0:0.0:0.0:1.0	.	82	O75901	RASF9_HUMAN	R	82	ENSP00000354884:K82R	ENSP00000354884:K82R	K	-	2	0	RASSF9	84723674	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.997000	0.40786	1.941000	0.56285	0.421000	0.28195	AAG		0.473	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			C	86199543	T	C	86199543	3	2	624	1	0	0	0	0	1	0	0	0	13099	1609	56	3	1066	3	RASSF9	12	86199543	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	4528420	86199543	47652352	58	34012											
ATP2A2	488	hgsc.bcm.edu	37	12	110765478	110765478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr12:110765478delC	ENST00000539276.2	+	8	860	c.751delC	c.(751-753)caafs	p.Q251fs	ATP2A2_ENST00000308664.6_Frame_Shift_Del_p.Q251fs|ATP2A2_ENST00000395494.2_Frame_Shift_Del_p.Q224fs			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	251					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ACCCCTTCAGCAAAAACTAGA	0.453																																																0													166	166	166					12																	110765478		2203	4300	6503	SO:0001589	frameshift_variant	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.751delC	chr12.hg19:g.110765478delC	ENSP00000440045:p.Gln251fs		A6NDN7|B4DF05|P16614|Q86VJ2	Frame_Shift_Del	DEL	ENST00000539276.2	hg19	CCDS9144.1																																																																																				0.453	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		-	110765478	C	-	110765478	7	5	624	1	0	1	0	1	0	0	0	0	1137	711	25	0	781	0	ATP2A2	12	110765478	Frame_Shift_Del	DEL	C	TCGA-DW-7840-01A-11D-2136-08	24565935	110765478	23086417	59	34013											
TECPR2	9895	hgsc.bcm.edu	37	14	102906785	102906786	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr14:102906785_102906786GG>TT	ENST00000359520.7	+	11	2817_2818	c.2591_2592GG>TT	c.(2590-2592)tGG>tTT	p.W864F	TECPR2_ENST00000558678.1_Missense_Mutation_p.W864F	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	864					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCCCTTCTCTGGAAGATTGAAC	0.446																																																0																																										SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		Exception_encountered	chr14.hg19:g.102906785_102906786delinsTT	ENSP00000352510:p.Trp864Phe		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	hg19	CCDS32162.1																																																																																				0.446	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		TT	102906786	GG	TT	102906785	3	4	624	1	0	0	0	0	1	0	0	0	15749	1357	47	4	2629	4	TECPR2	14	102906785	Missense_Mutation	DNP	GG	TCGA-DW-7840-01A-11D-2136-08		102906785	4442755	60	34014											
TRPM1	4308	hgsc.bcm.edu	37	15	31362391	31362391	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:31362391G>T	ENST00000256552.6	-	4	269	c.122C>A	c.(121-123)cCt>cAt	p.P41H	TRPM1_ENST00000397795.2_Missense_Mutation_p.P19H|TRPM1_ENST00000542188.1_Missense_Mutation_p.P58H|TRPM1_ENST00000559179.1_Missense_Mutation_p.P19H	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTTGGCAGAGGGGGGATATG	0.507																																																0													243	229	234					15																	31362391		1976	4162	6138	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.122C>A	chr15.hg19:g.31362391G>T	ENSP00000256552:p.Pro41His			Missense_Mutation	SNP	ENST00000256552.6	hg19	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336399	0.24253	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.55760	0.5;0.5;0.5	6.03	5.12	0.69794	.	0.408600	0.22654	U	0.057296	T	0.60340	0.2261	L	0.36672	1.1	0.33691	D	0.613333	D;D	0.71674	0.998;0.983	D;P	0.73708	0.981;0.827	T	0.71192	-0.4665	10	0.72032	D	0.01	-15.4292	9.4507	0.38725	0.2106:0.0:0.7894:0.0	.	19;19	Q6PE48;Q7Z4N2	.;TRPM1_HUMAN	H	19;58;41;19	ENSP00000380897:P19H;ENSP00000437849:P58H;ENSP00000256552:P41H	ENSP00000256552:P41H	P	-	2	0	TRPM1	29149683	1.000000	0.71417	0.918000	0.36340	0.307000	0.27823	3.722000	0.54948	1.541000	0.49316	0.655000	0.94253	CCT		0.507	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		T	31362391	G	T	31362391	3	4	624	1	0	0	0	0	1	0	0	0	16590	1000	35	4	4855	4	TRPM1	15	31362391	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08		31362391	71169001	61	34015											
ANKDD1A	348094	hgsc.bcm.edu	37	15	65223120	65223120	+	Splice_Site	SNP	T	T	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:65223120T>G	ENST00000380230.3	+	7	698		c.e7+2		ANKDD1A_ENST00000491145.1_Splice_Site|ANKDD1A_ENST00000496660.1_Splice_Site|ANKDD1A_ENST00000395720.1_Splice_Site|ANKDD1A_ENST00000357698.3_Splice_Site|ANKDD1A_ENST00000395723.1_Splice_Site|ANKDD1A_ENST00000319580.8_Splice_Site	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A						signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGAATGCGGTGAGTCACCGC	0.607																																																0													68	54	59					15																	65223120		2202	4299	6501	SO:0001630	splice_region_variant	348094				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.669+2T>G	chr15.hg19:g.65223120T>G			Q495B2|Q495B3|Q8N7A0|Q8NBS5	Splice_Site	SNP	ENST00000380230.3	hg19	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360134	0.61403	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000319597;ENST00000496660;ENST00000483400;ENST00000395723	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.27	0.37666	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKDD1A	63010173	1.000000	0.71417	0.940000	0.37924	0.376000	0.30014	5.235000	0.65348	1.699000	0.51192	0.459000	0.35465	.		0.607	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703	Intron	G	65223120	T	G	65223120	5	3	624	1	0	0	0	0	0	0	1	0	624	1710	59	5	697	5	ANKDD1A	15	65223120	Splice_Site	SNP	T	TCGA-DW-7840-01A-11D-2136-08	33860729	65223120	37308272	62	34016											
IGDCC4	57722	hgsc.bcm.edu	37	15	65684505	65684505	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:65684505T>A	ENST00000352385.2	-	11	2298	c.2089A>T	c.(2089-2091)Aag>Tag	p.K697*		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	697	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCACTTTCTTCTTGAGCCGG	0.632																																																0													32	39	37					15																	65684505		2184	4286	6470	SO:0001587	stop_gained	57722				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2089A>T	chr15.hg19:g.65684505T>A	ENSP00000319623:p.Lys697*		Q9HCE4	Nonsense_Mutation	SNP	ENST00000352385.2	hg19	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	T	41	8.769097	0.98948	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	.	.	.	5.49	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-23.8407	10.907	0.47086	0.0:0.0731:0.0:0.9269	.	.	.	.	X	697;426	.	ENSP00000319623:K697X	K	-	1	0	IGDCC4	63471558	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	5.434000	0.66526	0.947000	0.37659	0.533000	0.62120	AAG		0.632	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		A	65684505	T	A	65684505	4	1	624	1	0	0	0	0	0	1	0	0	7571	1792	62	5	1703	5	IGDCC4	15	65684505	Nonsense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	461385	65684505	36846887	63	34017											
MAP2K5	5607	hgsc.bcm.edu	37	15	67985904	67985904	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:67985904G>T	ENST00000178640.5	+	15	1597	c.970G>T	c.(970-972)Gcg>Tcg	p.A324S	MAP2K5_ENST00000395476.2_Missense_Mutation_p.A324S|MAP2K5_ENST00000354498.5_Missense_Mutation_p.A288S|MAP2K5_ENST00000340972.4_Missense_Mutation_p.A134S	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TGCTTATATGGCGGTAAGTAA	0.303																																																0													132	126	128					15																	67985904		2200	4297	6497	SO:0001583	missense	5607			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"Mitogen-activated protein kinase cascade / Kinase kinases"	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.970G>T	chr15.hg19:g.67985904G>T	ENSP00000178640:p.Ala324Ser		B4DE43|Q92961|Q92962	Missense_Mutation	SNP	ENST00000178640.5	hg19	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107121	0.37145	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000340972	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	L	0.31752	0.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.02728	-1.1118	10	0.28530	T	0.3	-16.1519	19.5552	0.95342	0.0:0.0:1.0:0.0	.	134;324;324	A6NK28;Q13163-2;Q13163	.;.;MP2K5_HUMAN	S	324;324;324;288;134	ENSP00000378859:A324S;ENSP00000178640:A324S;ENSP00000346493:A288S;ENSP00000342101:A134S	ENSP00000178640:A324S	A	+	1	0	MAP2K5	65772958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.968000	0.93407	2.630000	0.89119	0.585000	0.79938	GCG		0.303	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162		T	67985904	G	T	67985904	3	4	624	1	0	0	0	0	1	0	0	0	9242	1203	42	4	1028	4	MAP2K5	15	67985904	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08	2301399	67985904	34545488	64	34018											
RASGRF1	5923	hgsc.bcm.edu	37	15	79254568	79254568	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:79254568T>C	ENST00000419573.3	-	28	4014	c.3740A>G	c.(3739-3741)tAt>tGt	p.Y1247C	RASGRF1_ENST00000394745.3_Missense_Mutation_p.Y463C|RASGRF1_ENST00000558480.2_Missense_Mutation_p.Y1231C	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1247	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCCAGTAAATATTGCGTTAC	0.468																																																0													58	56	56					15																	79254568		2196	4290	6486	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3740A>G	chr15.hg19:g.79254568T>C	ENSP00000405963:p.Tyr1247Cys		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	hg19	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.169141	0.57584	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.34472	1.36;1.36	3.96	3.96	0.45880	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000003	T	0.56381	0.1981	M	0.78801	2.425	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.68483	0.867;0.958	T	0.60826	-0.7186	10	0.87932	D	0	.	9.5252	0.39160	0.0:0.0:0.0:1.0	.	1249;1231	Q13972;F8VPA5	RGRF1_HUMAN;.	C	1247;1231;463	ENSP00000405963:Y1247C;ENSP00000378228:Y463C	ENSP00000378224:Y1231C	Y	-	2	0	RASGRF1	77041623	1.000000	0.71417	0.170000	0.22879	0.948000	0.59901	6.883000	0.75595	1.545000	0.49373	0.402000	0.26972	TAT		0.468	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		C	79254568	T	C	79254568	3	2	624	1	0	0	0	0	1	0	0	0	13078	1406	49	3	85	3	RASGRF1	15	79254568	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	11268664	79254568	23276824	65	34019											
MYH8	4626	hgsc.bcm.edu	37	17	10312636	10312636	+	Silent	SNP	A	A	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr17:10312636A>T	ENST00000403437.2	-	16	1951	c.1857T>A	c.(1855-1857)acT>acA	p.T619T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	619	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACTGGCTAGAGTCTTCATTG	0.423									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													67	69	68					17																	10312636		2203	4300	6503	SO:0001819	synonymous_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1857T>A	chr17.hg19:g.10312636A>T			Q14910	Silent	SNP	ENST00000403437.2	hg19	CCDS11153.1																																																																																				0.423	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		T	10312636	A	T	10312636	2	4	624	1	0	0	0	0	0	0	0	1	10043	291	11	5		5	MYH8	17	10312636	Silent	SNP	A	TCGA-DW-7840-01A-11D-2136-08		10312636	70882574	66	34020											
C19orf21	126353	hgsc.bcm.edu	37	19	758211	758211	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:758211C>A	ENST00000215582.6	+	2	1368	c.1265C>A	c.(1264-1266)cCt>cAt	p.P422H		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	422					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CGCATCCCACCTGATGCCTAC	0.652																																																0													25	20	22					19																	758211		2201	4298	6499	SO:0001583	missense	126353			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1265C>A	chr19.hg19:g.758211C>A	ENSP00000215582:p.Pro422His			Missense_Mutation	SNP	ENST00000215582.6	hg19	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819234	0.50633	.	.	ENSG00000099812	ENST00000215582	T	0.35421	1.31	4.11	-1.68	0.08212	.	2.124670	0.02785	N	0.121388	T	0.47173	0.1431	L	0.54323	1.7	0.09310	N	1	D	0.69078	0.997	P	0.57548	0.823	T	0.41875	-0.9484	10	0.59425	D	0.04	-0.009	5.8678	0.18786	0.0:0.4423:0.1475:0.4102	.	422	Q8IVT2	CS021_HUMAN	H	422	ENSP00000215582:P422H	ENSP00000215582:P422H	P	+	2	0	C19orf21	709211	0.000000	0.05858	0.001000	0.08648	0.398000	0.30690	-0.883000	0.04170	-0.165000	0.10908	0.491000	0.48974	CCT		0.652	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		A	758211	C	A	758211	3	1	624	1	0	0	0	0	1	0	0	0	1915	681	24	4	1267	4	C19orf21	19	758211	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08		758211	58370772	67	34021											
TUBB4	10382	hgsc.bcm.edu	37	19	6501326	6501326	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:6501326C>A	ENST00000264071.2	-	3	620	c.249G>T	c.(247-249)caG>caT	p.Q83H	TUBB4A_ENST00000598006.1_Missense_Mutation_p.R69I|TUBB4A_ENST00000601152.1_Missense_Mutation_p.R58I|TUBB4A_ENST00000540257.1_Missense_Mutation_p.Q83H|TUBB4A_ENST00000596926.1_Missense_Mutation_p.Q83H			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	83					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GCCGAAAGATCTGACCGAAGG	0.577																																																0													49	44	46					19																	6501326		2203	4300	6503	SO:0001583	missense	10382			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.249G>T	chr19.hg19:g.6501326C>A	ENSP00000264071:p.Gln83His		B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	hg19	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	5.184	0.219490	0.09863	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.70164	-0.46;-0.46	3.83	1.13	0.20643	.	0.000000	0.64402	D	0.000003	T	0.65491	0.2696	M	0.82923	2.615	0.40614	D	0.981708	B	0.10296	0.003	B	0.08055	0.003	T	0.67039	-0.5771	10	0.87932	D	0	.	9.7907	0.40704	0.0:0.7717:0.0:0.2283	.	83	P04350	TBB4A_HUMAN	H	83	ENSP00000264071:Q83H;ENSP00000443590:Q83H	ENSP00000264071:Q83H	Q	-	3	2	TUBB4	6452326	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	2.026000	0.41069	0.592000	0.29728	0.313000	0.20887	CAG		0.577	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		A	6501326	C	A	6501326	3	1	624	1	0	0	0	0	1	0	0	0	16763	912	32	4	1093	4	TUBB4	19	6501326	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08	5743115	6501326	52627657	68	34022											
ZNF557	79230	hgsc.bcm.edu	37	19	7083599	7083599	+	Silent	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:7083599T>C	ENST00000439035.2	+	8	1356	c.1116T>C	c.(1114-1116)agT>agC	p.S372S	ZNF557_ENST00000414706.1_Silent_p.S379S|ZNF557_ENST00000252840.6_Silent_p.S379S			Q8N988	ZN557_HUMAN	zinc finger protein 557	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		ATGAGTGCAGTGATTGTGGAA	0.368																																																0													64	68	67					19																	7083599		2125	4254	6379	SO:0001819	synonymous_variant	79230			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.1116T>C	chr19.hg19:g.7083599T>C			Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	hg19	CCDS45945.1																																																																																				0.368	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		C	7083599	T	C	7083599	2	2	624	1	0	0	0	0	0	0	0	1	17993	1693	59	3		3	ZNF557	19	7083599	Silent	SNP	T	TCGA-DW-7840-01A-11D-2136-08	582273	7083599	52045384	69	34023											
SMARCA4	6597	hgsc.bcm.edu	37	19	11135092	11135092	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:11135092A>G	ENST00000429416.3	+	22	3340	c.3059A>G	c.(3058-3060)gAt>gGt	p.D1020G	SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020G|SMARCA4_ENST00000358026.2_Missense_Mutation_p.D1020G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1020					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCTGACTGATGGCTCCGAG	0.632			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											73	58	63					19																	11135092		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3059A>G	chr19.hg19:g.11135092A>G	ENSP00000395654:p.Asp1020Gly		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166378	0.57476	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	4.76	4.76	0.60689	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.82130	0.4970	L	0.37897	1.145	0.58432	D	0.999994	D;B;P;B;D;B;P;P	0.56287	0.975;0.418;0.78;0.002;0.975;0.0;0.78;0.78	P;B;B;B;P;B;P;P	0.57720	0.826;0.304;0.377;0.007;0.826;0.014;0.531;0.531	D	0.84375	0.0546	10	0.87932	D	0	-36.5944	13.3812	0.60768	1.0:0.0:0.0:0.0	.	1020;1020;1020;1020;1020;240;1020;1020	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	G	1020;1020;1084;1020;1020;1020;1020;1020	ENSP00000395654:D1020G;ENSP00000350720:D1020G;ENSP00000343896:D1020G;ENSP00000445036:D1020G;ENSP00000392837:D1020G;ENSP00000397783:D1020G;ENSP00000414727:D1020G	ENSP00000343896:D1020G	D	+	2	0	SMARCA4	10996092	1.000000	0.71417	0.922000	0.36590	0.498000	0.33706	8.908000	0.92640	1.997000	0.58415	0.533000	0.62120	GAT		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		G	11135092	A	G	11135092	3	3	624	1	0	0	0	0	1	0	0	0	14776	333	12	3	3137	3	SMARCA4	19	11135092	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08	4051493	11135092	47993891	70	34024											
ZNF443	10224	hgsc.bcm.edu	37	19	12541116	12541116	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:12541116C>T	ENST00000301547.5	-	4	2067	c.1870G>A	c.(1870-1872)Gca>Aca	p.A624T	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	624					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GAAGCAAATGCTTTCCCACAT	0.408																																																0													62	68	66					19																	12541116		2200	4292	6492	SO:0001583	missense	10224			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1870G>A	chr19.hg19:g.12541116C>T	ENSP00000301547:p.Ala624Thr			Missense_Mutation	SNP	ENST00000301547.5	hg19	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473549	0.26423	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.13778	2.56	1.36	-0.965	0.10323	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09686	0.0238	L	0.28504	0.86	0.09310	N	1	B	0.30664	0.289	B	0.37888	0.26	T	0.39231	-0.9624	9	0.38643	T	0.18	.	1.9484	0.03361	0.2638:0.3516:0.0:0.3846	.	624	Q9Y2A4	ZN443_HUMAN	T	624;596	ENSP00000301547:A624T	ENSP00000301547:A624T	A	-	1	0	ZNF443	12402116	0.000000	0.05858	0.001000	0.08648	0.586000	0.36452	-1.775000	0.01783	-0.214000	0.10078	0.454000	0.30748	GCA		0.408	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		T	12541116	C	T	12541116	3	4	624	1	0	0	0	0	1	0	0	0	17921	797	28	2	149	2	ZNF443	19	12541116	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08	1406024	12541116	46587867	71	34025											
RHPN2	85415	hgsc.bcm.edu	37	19	33493859	33493859	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:33493859C>T	ENST00000254260.3	-	8	843	c.808G>A	c.(808-810)Gac>Aac	p.D270N	RHPN2_ENST00000400226.4_Missense_Mutation_p.D119N	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	270	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.D270N(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGGCTCATGTCGTAACTTGGA	0.433																																																1	Substitution - Missense(1)	large_intestine(1)											51	46	48					19																	33493859		2203	4300	6503	SO:0001583	missense	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.808G>A	chr19.hg19:g.33493859C>T	ENSP00000254260:p.Asp270Asn		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	hg19	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102511	0.94245	.	.	ENSG00000131941	ENST00000254260;ENST00000400226	T;T	0.55760	0.5;0.5	4.7	4.7	0.59300	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	H	0.95187	3.635	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	D	0.86783	0.1980	10	0.87932	D	0	0.141	18.0539	0.89358	0.0:1.0:0.0:0.0	.	270	Q8IUC4	RHPN2_HUMAN	N	270;119	ENSP00000254260:D270N;ENSP00000402244:D119N	ENSP00000254260:D270N	D	-	1	0	RHPN2	38185699	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	7.752000	0.85141	2.325000	0.78763	0.478000	0.44815	GAC		0.433	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		T	33493859	C	T	33493859	3	4	624	1	0	0	0	0	1	0	0	0	13357	884	31	1	1284	1	RHPN2	19	33493859	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08	20952743	33493859	25635124	72	34026											
SIGLEC11	114132	hgsc.bcm.edu	37	19	50463980	50463980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:50463980delT	ENST00000447370.2	-	2	379	c.289delA	c.(289-291)atgfs	p.M97fs	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Frame_Shift_Del_p.M97fs	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	97	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CGGGTGCTCATTTCCACCTCT	0.582																																																0													19	23	22					19																	50463980		2107	4293	6400	SO:0001589	frameshift_variant	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.289delA	chr19.hg19:g.50463980delT	ENSP00000412361:p.Met97fs			Frame_Shift_Del	DEL	ENST00000447370.2	hg19	CCDS12790.2																																																																																				0.582	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		-	50463980	T	-	50463980	7	5	624	1	0	1	0	1	0	0	0	0	14313	1493	52	0	1847	0	SIGLEC11	19	50463980	Frame_Shift_Del	DEL	T	TCGA-DW-7840-01A-11D-2136-08	16970121	50463980	8665003	73	34027											
ZNF814	730051	hgsc.bcm.edu	37	19	58386399	58386399	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:58386399delT	ENST00000435989.2	-	3	593	c.359delA	c.(358-360)cacfs	p.H120fs	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	120					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CTCACACCTGTGCAGTTTCTG	0.502																																																0													18	14	15					19																	58386399		692	1568	2260	SO:0001589	frameshift_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.359delA	chr19.hg19:g.58386399delT	ENSP00000410545:p.His120fs		A6NF35	Frame_Shift_Del	DEL	ENST00000435989.2	hg19	CCDS46212.1																																																																																				0.502	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		-	58386399	T	-	58386399	7	5	624	1	0	1	0	1	0	0	0	0	18181	1696	59	0	2212	0	ZNF814	19	58386399	Frame_Shift_Del	DEL	T	TCGA-DW-7840-01A-11D-2136-08	7922419	58386399	742584	74	34028											
DNMT3B	1789	hgsc.bcm.edu	37	20	31374365	31374365	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr20:31374365C>G	ENST00000328111.2	+	5	685	c.364C>G	c.(364-366)Cgt>Ggt	p.R122G	DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R122G|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R122G|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R134G|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R122G|DNMT3B_ENST00000375623.4_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	122	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.R134C(1)|p.R122C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTTCCCCACGTTCCACCCG	0.632																																																2	Substitution - Missense(2)	lung(2)											68	66	66					20																	31374365		2203	4300	6503	SO:0001583	missense	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.364C>G	chr20.hg19:g.31374365C>G	ENSP00000328547:p.Arg122Gly		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	hg19	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465264	0.26335	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000344505;ENST00000201963	D;D;D;D;D	0.98400	-4.67;-4.89;-4.82;-4.77;-4.91	4.84	3.86	0.44501	.	0.246993	0.38326	N	0.001738	D	0.97219	0.9091	L	0.27053	0.805	0.23070	N	0.998346	D;P;P;P	0.71674	0.998;0.811;0.804;0.752	D;B;B;B	0.80764	0.994;0.309;0.28;0.191	D	0.92382	0.5914	10	0.26408	T	0.33	-6.5354	9.8664	0.41145	0.2125:0.7875:0.0:0.0	.	134;122;122;122	Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;DNM3B_HUMAN	G	122;208;122;122;122;134	ENSP00000328547:R122G;ENSP00000313397:R122G;ENSP00000337764:R122G;ENSP00000345105:R122G;ENSP00000201963:R134G	ENSP00000201963:R134G	R	+	1	0	DNMT3B	30838026	0.456000	0.25744	0.018000	0.16275	0.031000	0.12232	1.919000	0.40015	1.211000	0.43351	0.561000	0.74099	CGT		0.632	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		G	31374365	C	G	31374365	3	3	624	1	0	0	0	0	1	0	0	0	4679	536	19	4	418	4	DNMT3B	20	31374365	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08		31374365	31651155	75	34029											
MMP24	10893	hgsc.bcm.edu	37	20	33851627	33851627	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr20:33851627T>C	ENST00000246186.6	+	5	936	c.851T>C	c.(850-852)cTg>cCg	p.L284P	MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	284					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GTGCATGAGCTGGGCCACGCG	0.622																																																0													24	24	24					20																	33851627		2203	4300	6503	SO:0001583	missense	10893			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.851T>C	chr20.hg19:g.33851627T>C	ENSP00000246186:p.Leu284Pro		B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	hg19	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546808	0.86022	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.35605	1.3	5.05	5.05	0.67936	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.72145	0.3424	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82337	-0.0507	10	0.87932	D	0	.	14.1037	0.65075	0.0:0.0:0.0:1.0	.	284	Q9Y5R2	MMP24_HUMAN	P	284;232	ENSP00000246186:L284P	ENSP00000246186:L284P	L	+	2	0	MMP24	33315043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.819000	0.86621	2.105000	0.64084	0.533000	0.62120	CTG		0.622	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		C	33851627	T	C	33851627	3	2	624	1	0	0	0	0	1	0	0	0	9663	1580	55	3	619	3	MMP24	20	33851627	Missense_Mutation	SNP	T	TCGA-DW-7840-01A-11D-2136-08	2477262	33851627	29173893	76	34030											
SGK2	10110	hgsc.bcm.edu	37	20	42203603	42203603	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr20:42203603delT	ENST00000341458.4	+	9	1051	c.832delT	c.(832-834)tggfs	p.W278fs	SGK2_ENST00000423407.3_Frame_Shift_Del_p.W218fs|SGK2_ENST00000426287.1_Frame_Shift_Del_p.W244fs|SGK2_ENST00000373100.1_Frame_Shift_Del_p.W218fs|SGK2_ENST00000373092.3_Frame_Shift_Del_p.W218fs|SGK2_ENST00000373077.1_Frame_Shift_Del_p.W217fs	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGTGGACTGGTGGTGCTTGGG	0.512																																																0													114	103	107					20																	42203603		2203	4300	6503	SO:0001589	frameshift_variant	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.832delT	chr20.hg19:g.42203603delT	ENSP00000340608:p.Trp278fs		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Frame_Shift_Del	DEL	ENST00000341458.4	hg19	CCDS13320.1																																																																																				0.512	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			-	42203603	T	-	42203603	7	5	624	1	0	1	0	1	0	0	0	0	14215	1696	59	0	866	0	SGK2	20	42203603	Frame_Shift_Del	DEL	T	TCGA-DW-7840-01A-11D-2136-08	8351976	42203603	20821917	77	34031											
C20orf177	63939	hgsc.bcm.edu	37	20	58519969	58519969	+	Missense_Mutation	SNP	G	G	C	rs377074437		TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr20:58519969G>C	ENST00000358293.3	+	5	1386	c.971G>C	c.(970-972)cGa>cCa	p.R324P	FAM217B_ENST00000360816.3_Missense_Mutation_p.R324P|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	324																	GGTCACATTCGAGTTCCCAAA	0.493																																																0													65	68	67					20																	58519969		2203	4300	6503	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.971G>C	chr20.hg19:g.58519969G>C	ENSP00000351040:p.Arg324Pro		B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	hg19	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813583	0.70912	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.26660	1.72;1.72	5.35	4.4	0.53042	.	0.512737	0.15763	N	0.245848	T	0.38268	0.1034	L	0.29908	0.895	0.19300	N	0.999975	D	0.89917	1.0	D	0.83275	0.996	T	0.11817	-1.0572	10	0.48119	T	0.1	-14.475	13.4353	0.61079	0.0753:0.0:0.9247:0.0	.	324	Q9NTX9	CT177_HUMAN	P	324	ENSP00000351040:R324P;ENSP00000354056:R324P	ENSP00000351040:R324P	R	+	2	0	C20orf177	57953364	0.341000	0.24801	0.133000	0.22050	0.030000	0.12068	3.151000	0.50670	2.497000	0.84241	0.591000	0.81541	CGA		0.493	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		C	58519969	G	C	58519969	3	2	624	1	0	0	0	0	1	0	0	0	2098	1058	37	4	973	4	C20orf177	20	58519969	Missense_Mutation	SNP	G	TCGA-DW-7840-01A-11D-2136-08	16316366	58519969	4505551	78	34032											
KRTAP10-12	386685	hgsc.bcm.edu	37	21	46117131	46117131	+	Silent	SNP	C	C	T	rs554572469|rs372249758	byFrequency	TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr21:46117131C>T	ENST00000400365.3	+	1	45	c.15C>T	c.(13-15)tcC>tcT	p.S5S	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	5						keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CCGTCTGCTCCAGCGACCTGA	0.632																																																0								C	,	0,4330		0,0,2165	83	95	91		,15	2.2	1	21		91	1,8545		0,1,4272	no	intron,coding-synonymous	TSPEAR,KRTAP10-12	NM_144991.2,NM_198699.1	,	0,1,6437	TT,TC,CC		0.0117,0.0,0.0078	,	,5/246	46117131	1,12875	2165	4273	6438	SO:0001819	synonymous_variant	386685			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.15C>T	chr21.hg19:g.46117131C>T			B2RPA3	Silent	SNP	ENST00000400365.3	hg19	CCDS42967.1																																																																																				0.632	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		T	46117131	C	T	46117131	2	4	624	1	0	0	0	0	0	0	0	1	8510	581	21	2		2	KRTAP10-12	21	46117131	Silent	SNP	C	TCGA-DW-7840-01A-11D-2136-08		46117131	2012764	79	34033											
C21orf58	54058	hgsc.bcm.edu	37	21	47731374	47731374	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr21:47731374C>A	ENST00000291691.7	-	6	1853	c.717G>T	c.(715-717)aaG>aaT	p.K239N	C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397683.1_Missense_Mutation_p.K133N|C21orf58_ENST00000397679.1_Missense_Mutation_p.K133N|C21orf58_ENST00000397682.3_Missense_Mutation_p.K133N|C21orf58_ENST00000397680.1_Missense_Mutation_p.K133N	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	239										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		ACTTACCTTCCTTAATACTTC	0.488																																																0													109	90	97					21																	47731374		2202	4299	6501	SO:0001583	missense	54058				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.717G>T	chr21.hg19:g.47731374C>A	ENSP00000291691:p.Lys239Asn		B3KPI1	Missense_Mutation	SNP	ENST00000291691.7	hg19	CCDS13735.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674609	0.47781	.	.	ENSG00000160298	ENST00000397683;ENST00000417060;ENST00000397682;ENST00000291691;ENST00000397679;ENST00000397680	T;T;T;T;T;T	0.68903	0.21;-0.34;0.21;-0.36;0.21;0.21	5.46	1.62	0.23740	.	0.148272	0.42548	D	0.000695	T	0.69806	0.3152	L	0.39898	1.24	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.993;0.993;0.985	T	0.68911	-0.5284	10	0.87932	D	0	-21.1468	7.2122	0.25939	0.0:0.6518:0.0:0.3482	.	239;133;239	P58505;Q8N7N9;P58505-2	CU058_HUMAN;.;.	N	133;201;133;239;133;133	ENSP00000380799:K133N;ENSP00000402356:K201N;ENSP00000380798:K133N;ENSP00000291691:K239N;ENSP00000380796:K133N;ENSP00000380797:K133N	ENSP00000291691:K239N	K	-	3	2	C21orf58	46555802	0.998000	0.40836	1.000000	0.80357	0.392000	0.30506	0.249000	0.18216	0.711000	0.32018	-0.199000	0.12753	AAG		0.488	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180		A	47731374	C	A	47731374	3	1	624	1	0	0	0	0	1	0	0	0	2131	680	24	4	263	4	C21orf58	21	47731374	Missense_Mutation	SNP	C	TCGA-DW-7840-01A-11D-2136-08	1614243	47731374	398521	80	34034											
ZNRF3	84133	hgsc.bcm.edu	37	22	29445939	29445939	+	Silent	SNP	C	C	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr22:29445939C>G	ENST00000544604.2	+	8	1945	c.1770C>G	c.(1768-1770)ctC>ctG	p.L590L	ZNRF3_ENST00000402174.1_Silent_p.L490L|ZNRF3_ENST00000332811.4_Silent_p.L490L|ZNRF3_ENST00000406323.3_Silent_p.L490L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	590					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCAGCTCCCTCAGCAGCGACT	0.672																																																0													54	62	59					22																	29445939		2076	4222	6298	SO:0001819	synonymous_variant	84133			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1770C>G	chr22.hg19:g.29445939C>G			B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	hg19	CCDS56225.1																																																																																				0.672	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		G	29445939	C	G	29445939	2	3	624	1	0	0	0	0	0	0	0	1	18218	813	29	4		4	ZNRF3	22	29445939	Silent	SNP	C	TCGA-DW-7840-01A-11D-2136-08		29445939	21858627	81	34035											
RFPL3	10738	hgsc.bcm.edu	37	22	32754385	32754386	+	Frame_Shift_Del	DEL	GC	GC	-	rs9621427	byFrequency	TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr22:32754385_32754386delGC	ENST00000249007.4	+	1	532_533	c.327_328delGC	c.(325-330)aagctgfs	p.KL109fs	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Frame_Shift_Del_p.KL80fs|RFPL3_ENST00000382088.3_Frame_Shift_Del_p.KL80fs	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	109	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGGAGCCCAAGCTGAAGAAGAT	0.5																																																0																																										SO:0001589	frameshift_variant	10738			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.327_328delGC	chr22.hg19:g.32754385_32754386delGC	ENSP00000249007:p.Lys109fs		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Frame_Shift_Del	DEL	ENST00000249007.4	hg19	CCDS43011.1																																																																																				0.5	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		-	32754386	GC	-	32754385	7	5	624	1	0	1	0	1	0	0	0	0	13261	962	34	0	329	0	RFPL3	22	32754385	Frame_Shift_Del	DEL	GC	TCGA-DW-7840-01A-11D-2136-08	3308446	32754385	18550181	82	34036											
EP300	2033	hgsc.bcm.edu	37	22	41574164	41574176	+	Frame_Shift_Del	DEL	CACAGCAGCAACT	CACAGCAGCAACT	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	CACAGCAGCAACT	CACAGCAGCAACT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr22:41574164_41574176delCACAGCAGCAACT	ENST00000263253.7	+	31	7668_7680	c.6449_6461delCACAGCAGCAACT	c.(6448-6462)ccacagcagcaactcfs	p.PQQQL2150fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2150	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAGCAGCAACCACAGCAGCAACTCCAGCCACCC	0.582			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0																																										SO:0001589	frameshift_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6449_6461delCACAGCAGCAACT	chr22.hg19:g.41574164_41574176delCACAGCAGCAACT	ENSP00000263253:p.Pro2150fs		B1AKC2	Frame_Shift_Del	DEL	ENST00000263253.7	hg19	CCDS14010.1																																																																																				0.582	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		-	41574176	CACAGCAGCAACT	-	41574164	7	5	624	1	0	1	0	1	0	0	0	0	5150	594	21	0	6571	0	EP300	22	41574164	Frame_Shift_Del	DEL	CACAGCAGCAACT	TCGA-DW-7840-01A-11D-2136-08	8819779	41574164	9730402	83	34037											
SH3KBP1	30011	hgsc.bcm.edu	37	X	19626146	19626146	+	Silent	SNP	G	G	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chrX:19626146G>T	ENST00000397821.3	-	9	1205	c.915C>A	c.(913-915)ggC>ggA	p.G305G	SH3KBP1_ENST00000379716.1_Silent_p.G67G|SH3KBP1_ENST00000379698.4_Silent_p.G268G|SH3KBP1_ENST00000379697.3_Silent_p.G349G|SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000541422.1_Silent_p.G44G	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	305	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTTCCCACCAGCCTACGTCGA	0.537																																																0													82	64	70					X																	19626146		2203	4300	6503	SO:0001819	synonymous_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.915C>A	chrX.hg19:g.19626146G>T			B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	hg19	CCDS14193.1																																																																																				0.537	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		T	19626146	G	T	19626146	2	4	624	1	0	0	0	0	0	0	0	1	14261	958	34	4		4	SH3KBP1	23	19626146	Silent	SNP	G	TCGA-DW-7840-01A-11D-2136-08		19626146	135644414	84	34038											
DCAF12L1	139170	hgsc.bcm.edu	37	X	125685498	125685498	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chrX:125685498A>C	ENST00000371126.1	-	1	1336	c.1094T>G	c.(1093-1095)gTg>gGg	p.V365G		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	365										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACCGGTGCCCACAGTGATGAT	0.632																																																0													35	38	37					X																	125685498		2203	4299	6502	SO:0001583	missense	139170			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1094T>G	chrX.hg19:g.125685498A>C	ENSP00000360167:p.Val365Gly		Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	hg19	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414963	0.42817	.	.	ENSG00000198889	ENST00000371126	T	0.66099	-0.19	3.64	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.343553	0.17248	N	0.181261	T	0.65491	0.2696	M	0.73962	2.25	0.58432	D	0.999996	D	0.54397	0.966	P	0.47299	0.543	T	0.70691	-0.4802	10	0.87932	D	0	.	9.8475	0.41037	1.0:0.0:0.0:0.0	.	365	Q5VU92	DC121_HUMAN	G	365	ENSP00000360167:V365G	ENSP00000360167:V365G	V	-	2	0	DCAF12L1	125513179	1.000000	0.71417	0.124000	0.21820	0.171000	0.22731	5.855000	0.69510	1.683000	0.51011	0.350000	0.21858	GTG		0.632	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		C	125685498	A	C	125685498	3	2	624	1	0	0	0	0	1	0	0	0	4266	159	6	5	301	5	DCAF12L1	23	125685498	Missense_Mutation	SNP	A	TCGA-DW-7840-01A-11D-2136-08	106059352	125685498	29585062	85	34039											
ERRFI1	54206	hgsc.bcm.edu	37	1	8075366	8075383	+	Splice_Site	DEL	AGAATACATACCAAGTGG	AGAATACATACCAAGTGG	-	rs147802351	byFrequency	TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	AGAATACATACCAAGTGG	AGAATACATACCAAGTGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr1:8075366_8075383delAGAATACATACCAAGTGG	ENST00000377482.5	-	3	410_426	c.187_203delCCACTTGGTATGTATTCT	c.(187-204)ccacttggtatgtattct>t	p.PLGMYS63del	ERRFI1_ENST00000467067.1_In_Frame_Del_p.PLGMYS63del|ERRFI1_ENST00000469499.1_Intron|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	63					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CAGAATACATACCAAGTGGTATTAGGCGCTCCTGAGCA	0.413																																																0																																										SO:0001630	splice_region_variant	54206			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.202+1CCACTTGGTATGTATTCT>-	chr1.hg19:g.8075366_8075383delAGAATACATACCAAGTGG			B2RDX9|Q9NTG9|Q9UD05	In_Frame_Del	DEL	ENST00000377482.5	hg19	CCDS94.1																																																																																				0.413	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948	In_Frame_Del	-	8075383	AGAATACATACCAAGTGG	-	8075366	8	5	625	1	0	1	0	1	0	0	1	0	5246	405	14	0	1192	0	ERRFI1	1	8075366	Splice_Site	DEL	AGAATACATACCAAGTGG	TCGA-DW-7841-01A-11D-2136-08		8075366	241175255	1	34040											
SYDE2	84144	hgsc.bcm.edu	37	1	85648788	85648788	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr1:85648788T>C	ENST00000341460.5	-	3	1586	c.1537A>G	c.(1537-1539)Aat>Gat	p.N513D		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	513					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATGACCAATTAATTGAACTG	0.383																																																0													118	120	119					1																	85648788		1831	4083	5914	SO:0001583	missense	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1537A>G	chr1.hg19:g.85648788T>C	ENSP00000340594:p.Asn513Asp		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	hg19	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237512	0.58886	.	.	ENSG00000097096	ENST00000341460	T	0.09073	3.02	5.41	3.06	0.35304	.	0.205916	0.48767	D	0.000174	T	0.04770	0.0129	M	0.68952	2.095	0.28339	N	0.921432	D;P	0.52996	0.957;0.787	B;B	0.44278	0.445;0.295	T	0.20207	-1.0282	10	0.56958	D	0.05	.	8.1975	0.31405	0.0:0.0701:0.1349:0.795	.	513;513	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	D	513	ENSP00000340594:N513D	ENSP00000340594:N513D	N	-	1	0	SYDE2	85421376	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	3.969000	0.56816	0.359000	0.24239	0.528000	0.53228	AAT		0.383	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			C	85648788	T	C	85648788	3	2	625	1	0	0	0	0	1	0	0	0	15441	1754	61	3	2067	3	SYDE2	1	85648788	Missense_Mutation	SNP	T	TCGA-DW-7841-01A-11D-2136-08	77573422	85648788	163601833	2	34041											
LAMB3	3914	hgsc.bcm.edu	37	1	209800244	209800244	+	Missense_Mutation	SNP	C	C	T	rs144249951		TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr1:209800244C>T	ENST00000356082.4	-	13	1699	c.1565G>A	c.(1564-1566)cGg>cAg	p.R522Q	LAMB3_ENST00000391911.1_Missense_Mutation_p.R522Q|LAMB3_ENST00000367030.3_Missense_Mutation_p.R522Q	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	522	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCCATAGGTCCGGTCTGGACA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		20065	0.0		0.001	False		,,,				2504	0.0															0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	54	45	48		1565,1565,1565	-0.5	0.1	1	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	522/1173,522/1173,522/1173	209800244	1,13005	2203	4300	6503	SO:0001583	missense	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1565G>A	chr1.hg19:g.209800244C>T	ENSP00000348384:p.Arg522Gln		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	hg19	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471943	0.26423	0.0	1.16E-4	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61158	0.13;0.13;0.13	5.7	-0.461	0.12172	EGF-like, laminin (3);	0.489478	0.22676	N	0.057015	T	0.41305	0.1153	L	0.35854	1.095	0.09310	N	1	B	0.28082	0.2	B	0.27076	0.076	T	0.24548	-1.0157	10	0.21540	T	0.41	.	10.3743	0.44073	0.0:0.6147:0.0:0.3853	.	522	Q13751	LAMB3_HUMAN	Q	522	ENSP00000375778:R522Q;ENSP00000348384:R522Q;ENSP00000355997:R522Q	ENSP00000348384:R522Q	R	-	2	0	LAMB3	207866867	0.000000	0.05858	0.055000	0.19348	0.114000	0.19823	0.138000	0.16016	-0.213000	0.10094	0.650000	0.86243	CGG		0.672	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		T	209800244	C	T	209800244	3	4	625	1	0	0	0	0	1	0	0	0	8614	652	23	1	1997	1	LAMB3	1	209800244	Missense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08	124151456	209800244	39450377	3	34042											
LRPPRC	10128	hgsc.bcm.edu	37	2	44207047	44207047	+	Silent	SNP	A	A	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr2:44207047A>G	ENST00000260665.7	-	3	444	c.387T>C	c.(385-387)agT>agC	p.S129S	LRPPRC_ENST00000409946.1_Silent_p.S129S|LRPPRC_ENST00000409659.1_Silent_p.S129S	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	129					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAGAACCACAACTACGTAGTA	0.368																																																0													86	79	82					2																	44207047		2203	4300	6503	SO:0001819	synonymous_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.387T>C	chr2.hg19:g.44207047A>G			A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	hg19	CCDS33189.1																																																																																				0.368	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		G	44207047	A	G	44207047	2	3	625	1	0	0	0	0	0	0	0	1	8967	40	2	3		3	LRPPRC	2	44207047	Silent	SNP	A	TCGA-DW-7841-01A-11D-2136-08		44207047	198992326	4	34043											
ACVR2A	92	hgsc.bcm.edu	37	2	148684830	148684834	+	Frame_Shift_Del	DEL	AATCT	AATCT	-			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	AATCT	AATCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr2:148684830_148684834delAATCT	ENST00000241416.7	+	11	2165_2169	c.1529_1533delAATCT	c.(1528-1533)gaatctfs	p.ES510fs	ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.ES510fs|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Frame_Shift_Del_p.ES402fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	510					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CCTCCCAAAGAATCTAGTCTATGAT	0.395																																																0																																										SO:0001589	frameshift_variant	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1529_1533delAATCT	chr2.hg19:g.148684830_148684834delAATCT	ENSP00000241416:p.Glu510fs		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Del	DEL	ENST00000241416.7	hg19	CCDS33301.1																																																																																				0.395	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		-	148684834	AATCT	-	148684830	7	5	625	1	0	1	0	1	0	0	0	0	223	246	9	0	1571	0	ACVR2A	2	148684830	Frame_Shift_Del	DEL	AATCT	TCGA-DW-7841-01A-11D-2136-08	104477783	148684830	94514543	5	34044											
SCN7A	6332	hgsc.bcm.edu	37	2	167284362	167284362	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr2:167284362A>T	ENST00000409855.1	-	17	2915	c.2789T>A	c.(2788-2790)aTt>aAt	p.I930N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	930					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GTTCTCTACAATCTTGCAGCA	0.458																																																0													134	128	130					2																	167284362		1885	4118	6003	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2789T>A	chr2.hg19:g.167284362A>T	ENSP00000386796:p.Ile930Asn			Missense_Mutation	SNP	ENST00000409855.1	hg19	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242192	0.79912	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.89617	-2.54	5.02	5.02	0.67125	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000008	D	0.94932	0.8361	M	0.89904	3.07	0.52501	D	0.99995	D	0.76494	0.999	D	0.72338	0.977	D	0.95644	0.8701	10	0.87932	D	0	.	12.9965	0.58650	1.0:0.0:0.0:0.0	.	930	Q01118	SCN7A_HUMAN	N	930	ENSP00000386796:I930N	ENSP00000259060:I930N	I	-	2	0	SCN7A	166992608	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	7.324000	0.79115	2.228000	0.72767	0.482000	0.46254	ATT		0.458	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			T	167284362	A	T	167284362	3	4	625	1	0	0	0	0	1	0	0	0	13929	101	4	5	2295	5	SCN7A	2	167284362	Missense_Mutation	SNP	A	TCGA-DW-7841-01A-11D-2136-08	18599532	167284362	75915011	6	34045											
SHISA5	51246	hgsc.bcm.edu	37	3	48510782	48510782	+	Silent	SNP	C	C	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr3:48510782C>T	ENST00000296444.2	-	5	957	c.621G>A	c.(619-621)ccG>ccA	p.P207P	SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000443308.2_Silent_p.P200P|SHISA5_ENST00000444115.1_Silent_p.P176P|SHISA5_ENST00000426002.1_Silent_p.P104P|SHISA5_ENST00000442747.1_Silent_p.P176P	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	207	Pro-rich.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						CGTGGTAGGCCGGTGGGCCCA	0.657																																																0													97	95	96					3																	48510782		2203	4300	6503	SO:0001819	synonymous_variant	51246			AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"Shisa homologs"	30376	protein-coding gene	gene with protein product		607290	"shisa homolog 5 (Xenopus laevis)"			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.621G>A	chr3.hg19:g.48510782C>T			B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Silent	SNP	ENST00000296444.2	hg19	CCDS2770.1	.	.	.	.	.	.	.	.	.	.	C	3.542	-0.093509	0.07053	.	.	ENSG00000164054	ENST00000536074	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.47563	0.1452	.	.	.	0.42593	D	0.993257	.	.	.	.	.	.	T	0.60895	-0.7172	5	0.87932	D	0	-31.2522	1.378	0.02225	0.2716:0.1192:0.152:0.4572	.	.	.	.	Q	28	.	ENSP00000445956:R28Q	R	-	2	0	SHISA5	48485786	0.000000	0.05858	0.031000	0.17742	0.469000	0.32828	-4.182000	0.00278	-2.526000	0.00494	-0.251000	0.11542	CGG		0.657	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3	NM_016479		T	48510782	C	T	48510782	2	4	625	1	0	0	0	0	0	0	0	1	14289	639	23	1		1	SHISA5	3	48510782	Silent	SNP	C	TCGA-DW-7841-01A-11D-2136-08		48510782	149511648	7	34046											
SLC35A5	55032	hgsc.bcm.edu	37	3	112282282	112282290	+	In_Frame_Del	DEL	TATGCTCCT	TATGCTCCT	-	rs201886373|rs377335674|rs369182750		TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	TATGCTCCT	TATGCTCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr3:112282282_112282290delTATGCTCCT	ENST00000492406.1	+	2	315_323	c.32_40delTATGCTCCT	c.(31-42)atatgctccttg>atg	p.11_14ICSL>M	ATG3_ENST00000402314.2_5'Flank|ATG3_ENST00000283290.5_5'Flank|ATG3_ENST00000495756.1_5'Flank	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	11					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CATCCTGTAATATGCTCCTTGTCAACAAT	0.378																																																0																																										SO:0001651	inframe_deletion	55032			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"Solute carriers"	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.32_40delTATGCTCCT	chr3.hg19:g.112282282_112282290delTATGCTCCT	ENSP00000417654:p.Ile11_Leu14delinsMet		D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	In_Frame_Del	DEL	ENST00000492406.1	hg19	CCDS2967.1																																																																																				0.378	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		-	112282290	TATGCTCCT	-	112282282	7	5	625	1	0	1	0	1	0	0	0	0	14580	1406	49	0	34	0	SLC35A5	3	112282282	In_Frame_Del	DEL	TATGCTCCT	TCGA-DW-7841-01A-11D-2136-08	63771500	112282282	85740148	8	34047											
KPNA4	3840	hgsc.bcm.edu	37	3	160249310	160249310	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr3:160249310T>C	ENST00000334256.4	-	6	628	c.323A>G	c.(322-324)gAt>gGt	p.D108G		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	108					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TATTAAGTCATCAATTGGTGG	0.269																																																0													86	97	93					3																	160249310		2203	4293	6496	SO:0001583	missense	3840			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"Importins", "Armadillo repeat containing"	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.323A>G	chr3.hg19:g.160249310T>C	ENSP00000334373:p.Asp108Gly		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	hg19	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773313	0.90108	.	.	ENSG00000186432	ENST00000334256	T	0.32272	1.46	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	M	0.93328	3.405	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	T	0.75769	-0.3201	10	0.72032	D	0.01	.	15.6624	0.77197	0.0:0.0:0.0:1.0	.	108	O00629	IMA4_HUMAN	G	108	ENSP00000334373:D108G	ENSP00000334373:D108G	D	-	2	0	KPNA4	161732004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.797000	0.85911	2.284000	0.76573	0.528000	0.53228	GAT		0.269	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		C	160249310	T	C	160249310	3	2	625	1	0	0	0	0	1	0	0	0	8434	1435	50	3	1290	3	KPNA4	3	160249310	Missense_Mutation	SNP	T	TCGA-DW-7841-01A-11D-2136-08	47967028	160249310	37773120	9	34048											
SLC30A9	10463	hgsc.bcm.edu	37	4	42037333	42037333	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr4:42037333T>G	ENST00000264451.7	+	7	832	c.652T>G	c.(652-654)Ttc>Gtc	p.F218V		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	218					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F218V(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATACAGAGATTTCTTGGGAAA	0.299																																																1	Substitution - Missense(1)	kidney(1)											56	62	60					4																	42037333		2200	4282	6482	SO:0001583	missense	10463			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.652T>G	chr4.hg19:g.42037333T>G	ENSP00000264451:p.Phe218Val		Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	hg19	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	T	9.461	1.093124	0.20471	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.54866	0.55	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	L	0.34521	1.04	0.58432	D	0.999996	P	0.43352	0.804	B	0.38842	0.283	T	0.13872	-1.0493	10	0.16420	T	0.52	-12.6044	11.5359	0.50636	0.0:0.0:0.0:1.0	.	218	Q6PML9	ZNT9_HUMAN	V	218;46	ENSP00000264451:F218V	ENSP00000264451:F218V	F	+	1	0	SLC30A9	41732090	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	4.876000	0.63079	2.003000	0.58678	0.397000	0.26171	TTC		0.299	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			G	42037333	T	G	42037333	3	3	625	1	0	0	0	0	1	0	0	0	14568	1841	64	5	678	5	SLC30A9	4	42037333	Missense_Mutation	SNP	T	TCGA-DW-7841-01A-11D-2136-08		42037333	149116943	10	34049											
ZCCHC9	84240	hgsc.bcm.edu	37	5	80600585	80600585	+	Silent	SNP	G	G	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr5:80600585G>A	ENST00000254037.2	+	1	3164	c.9G>A	c.(7-9)agG>agA	p.R3R	ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000407610.3_Silent_p.R3R|ZCCHC9_ENST00000438268.2_Silent_p.R3R|ZCCHC9_ENST00000380199.5_Silent_p.R3R			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	3					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TTATGACCAGGTGGGCCCGAG	0.423																																																0													81	76	77					5																	80600585		2203	4300	6503	SO:0001819	synonymous_variant	84240			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"Zinc fingers, CCHC domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25424	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 41"					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.9G>A	chr5.hg19:g.80600585G>A			B2RAE7|Q9H027	Silent	SNP	ENST00000254037.2	hg19	CCDS4054.1																																																																																				0.423	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		A	80600585	G	A	80600585	2	1	625	1	0	0	0	0	0	0	0	1	17600	1252	44	2		2	ZCCHC9	5	80600585	Silent	SNP	G	TCGA-DW-7841-01A-11D-2136-08		80600585	100314675	11	34050											
PCDHGA6	56109	hgsc.bcm.edu	37	5	140753888	140753888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr5:140753888C>T	ENST00000517434.1	+	1	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	80	Cadherin 1. {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(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAATCCGCGAAACGGCAG	0.577																																																0													51	58	55					5																	140753888		2200	4300	6500	SO:0001587	stop_gained	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.238C>T	chr5.hg19:g.140753888C>T	ENSP00000429601:p.Arg80*		A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	SNP	ENST00000517434.1	hg19	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	12.46	1.943892	0.34283	.	.	ENSG00000253731	ENST00000517434	.	.	.	5.09	-0.279	0.12890	.	0.000000	0.29253	U	0.012681	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.6064	0.02684	0.3336:0.2219:0.2969:0.1477	.	.	.	.	X	80	.	ENSP00000429601:R80X	R	+	1	2	PCDHGA6	140734072	0.000000	0.05858	0.001000	0.08648	0.189000	0.23516	-0.696000	0.05104	0.091000	0.17302	0.650000	0.86243	CGA		0.577	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		T	140753888	C	T	140753888	4	4	625	1	0	0	0	0	0	1	0	0	11560	760	27	1	240	1	PCDHGA6	5	140753888	Nonsense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08	60153303	140753888	40161372	12	34051											
PWWP2A	114825	hgsc.bcm.edu	37	5	159520919	159520919	+	Silent	SNP	G	G	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr5:159520919G>A	ENST00000307063.7	-	2	772	c.738C>T	c.(736-738)gtC>gtT	p.V246V	PWWP2A_ENST00000523662.1_Silent_p.V246V|PWWP2A_ENST00000456329.3_Silent_p.V246V	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	246	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGGATGCGGGACAGGAGAAG	0.512																																																0													115	114	114					5																	159520919		1983	4144	6127	SO:0001819	synonymous_variant	114825				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.738C>T	chr5.hg19:g.159520919G>A			G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Silent	SNP	ENST00000307063.7	hg19	CCDS47332.1																																																																																				0.512	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			A	159520919	G	A	159520919	2	1	625	1	0	0	0	0	0	0	0	1	12851	1161	41	2		2	PWWP2A	5	159520919	Silent	SNP	G	TCGA-DW-7841-01A-11D-2136-08	18767031	159520919	21394341	13	34052											
ANKS1A	23294	hgsc.bcm.edu	37	6	35047314	35047314	+	Missense_Mutation	SNP	G	G	T	rs370130506		TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr6:35047314G>T	ENST00000360359.3	+	15	2443	c.2305G>T	c.(2305-2307)Ggg>Tgg	p.G769W	ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	769					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGTTATGACGGGAACAGCCC	0.597																																																0													92	79	83					6																	35047314		2203	4300	6503	SO:0001583	missense	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2305G>T	chr6.hg19:g.35047314G>T	ENSP00000353518:p.Gly769Trp		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	hg19	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610918	0.66558	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	T	0.51817	0.69	5.11	5.11	0.69529	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.50627	D	0.000119	T	0.60958	0.2309	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	T	0.64647	-0.6358	10	0.87932	D	0	-24.9218	17.075	0.86584	0.0:0.0:1.0:0.0	.	95;95;769	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	W	769;95	ENSP00000353518:G769W	ENSP00000353518:G769W	G	+	1	0	ANKS1A	35155292	1.000000	0.71417	0.560000	0.28344	0.348000	0.29142	8.954000	0.93051	2.519000	0.84933	0.561000	0.74099	GGG		0.597	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		T	35047314	G	T	35047314	3	4	625	1	0	0	0	0	1	0	0	0	688	1116	39	4	2363	4	ANKS1A	6	35047314	Missense_Mutation	SNP	G	TCGA-DW-7841-01A-11D-2136-08		35047314	136067753	14	34053											
TNFAIP3	7128	hgsc.bcm.edu	37	6	138200108	138200108	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr6:138200108C>T	ENST00000237289.4	+	7	1592	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	509	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.A506fs*21(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCCAGCCACGCCCCAGACCAC	0.562			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	26	Whole gene deletion(25)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(26)											53	57	56					6																	138200108		2203	4300	6503	SO:0001583	missense	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1526C>T	chr6.hg19:g.138200108C>T	ENSP00000237289:p.Ala509Val		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	hg19	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	8.783	0.928799	0.18131	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.23950	1.88	5.88	0.17	0.15021	.	2.360930	0.01293	N	0.010090	T	0.06005	0.0156	L	0.29908	0.895	0.09310	N	1	B	0.20671	0.047	B	0.19148	0.024	T	0.21690	-1.0238	10	0.31617	T	0.26	-3.2172	3.4733	0.07575	0.336:0.2854:0.3007:0.078	.	509	P21580	TNAP3_HUMAN	V	509	ENSP00000237289:A509V	ENSP00000237289:A509V	A	+	2	0	TNFAIP3	138241801	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	0.071000	0.14594	0.072000	0.16694	0.655000	0.94253	GCC		0.562	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			T	138200108	C	T	138200108	3	4	625	1	0	0	0	0	1	0	0	0	16279	739	26	2	1548	2	TNFAIP3	6	138200108	Missense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08	103152794	138200108	32914959	15	34054											
CBX3	11335	hgsc.bcm.edu	37	7	26251700	26251700	+	Splice_Site	SNP	A	A	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr7:26251700A>T	ENST00000337620.4	+	6	853		c.e6-1		CBX3_ENST00000409747.1_Splice_Site|CBX3_ENST00000396386.2_Splice_Site	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TTCTTAAAACAGGAAAGATTC	0.358																																																0													49	50	50					7																	26251700		2203	4300	6503	SO:0001630	splice_region_variant	11335			U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"HP1 gamma homolog (Drosophila)"	604477	"chromobox homolog 3 (Drosophila HP1 gamma)"			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.426-1A>T	chr7.hg19:g.26251700A>T			Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Splice_Site	SNP	ENST00000337620.4	hg19	CCDS5398.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.397838	0.62177	.	.	ENSG00000122565	ENST00000337620;ENST00000396386	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9596	0.79918	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CBX3	26218225	1.000000	0.71417	0.985000	0.45067	0.622000	0.37654	9.240000	0.95396	2.231000	0.72958	0.533000	0.62120	.		0.358	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	NM_007276	Intron	T	26251700	A	T	26251700	5	4	625	1	0	0	0	0	0	0	1	0	2721	202	7	5	442	5	CBX3	7	26251700	Splice_Site	SNP	A	TCGA-DW-7841-01A-11D-2136-08		26251700	132886963	16	34055											
ADAM9	8754	hgsc.bcm.edu	37	8	38880710	38880711	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr8:38880710_38880711insGG	ENST00000487273.2	+	9	858_859	c.780_781insGG	c.(781-783)ggafs	p.G261fs		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	261	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTGTGCTAGTTGGACTGGAGAT	0.376																																																0																																										SO:0001589	frameshift_variant	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.781_782dupGG	chr8.hg19:g.38880711_38880712dupGG	ENSP00000419446:p.Gly261fs		B7ZLN7|Q10718|Q8NFM6	Frame_Shift_Ins	INS	ENST00000487273.2	hg19	CCDS6112.1																																																																																				0.376	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			GG	38880711	-	GG	38880710	7	5	625	1	0	1	1	0	0	0	0	0	253	1799	63	0	814	0	ADAM9	8	38880710	Frame_Shift_Ins	INS	-	TCGA-DW-7841-01A-11D-2136-08		38880710	107483312	17	34056											
FAM91A1	157769	hgsc.bcm.edu	37	8	124787418	124787418	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr8:124787418C>A	ENST00000334705.7	+	3	435	c.189C>A	c.(187-189)taC>taA	p.Y63*	FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.Y63*	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	63										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AACGCAGATACTATGAGGAAC	0.363																																																0													91	80	84					8																	124787418		1882	4109	5991	SO:0001587	stop_gained	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.189C>A	chr8.hg19:g.124787418C>A	ENSP00000335082:p.Tyr63*		B6YY23|Q658T5|Q8TE89	Nonsense_Mutation	SNP	ENST00000334705.7	hg19	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892276	0.91889	.	.	ENSG00000176853	ENST00000521166;ENST00000334705;ENST00000395537	.	.	.	5.33	3.52	0.40303	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0665	0.42306	0.0:0.7624:0.0:0.2376	.	.	.	.	X	63	.	ENSP00000335082:Y63X	Y	+	3	2	FAM91A1	124856599	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.080000	0.30779	0.619000	0.30197	0.655000	0.94253	TAC		0.363	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		A	124787418	C	A	124787418	4	1	625	1	0	0	0	0	0	1	0	0	5653	576	20	4	199	4	FAM91A1	8	124787418	Nonsense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08	85906708	124787418	21576604	18	34057											
SUSD1	64420	hgsc.bcm.edu	37	9	114820886	114820886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr9:114820886delC	ENST00000374270.3	-	14	2103	c.1931delG	c.(1930-1932)agcfs	p.S644fs	SUSD1_ENST00000374264.2_Frame_Shift_Del_p.S644fs|SUSD1_ENST00000374263.3_Frame_Shift_Del_p.S644fs	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	644						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGAGGCGTTGCTAAAGAAGGA	0.473																																																0													114	111	112					9																	114820886		2203	4300	6503	SO:0001589	frameshift_variant	64420			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1931delG	chr9.hg19:g.114820886delC	ENSP00000363388:p.Ser644fs		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Frame_Shift_Del	DEL	ENST00000374270.3	hg19	CCDS6783.1																																																																																				0.473	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		-	114820886	C	-	114820886	7	5	625	1	0	1	0	1	0	0	0	0	15412	797	28	0	328	0	SUSD1	9	114820886	Frame_Shift_Del	DEL	C	TCGA-DW-7841-01A-11D-2136-08		114820886	26392545	19	34058	256	2									
SUSD1	64420	hgsc.bcm.edu	37	9	114820888	114820888	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr9:114820888A>T	ENST00000374270.3	-	14	2101	c.1929T>A	c.(1927-1929)ttT>ttA	p.F643L	SUSD1_ENST00000374264.2_Missense_Mutation_p.F643L|SUSD1_ENST00000374263.3_Missense_Mutation_p.F643L	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	643						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGGCGTTGCTAAAGAAGGAGG	0.478																																																0													113	110	111					9																	114820888		2203	4300	6503	SO:0001583	missense	64420			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1929T>A	chr9.hg19:g.114820888A>T	ENSP00000363388:p.Phe643Leu		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	hg19	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.65|17.65	3.441634|3.441634	0.63067|0.63067	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|.	0.51817|.	0.69;0.69;0.69|.	5.44|5.44	1.84|1.84	0.25277|0.25277	.|.	0.000000|.	0.49305|.	D|.	0.000147|.	T|.	0.55369|.	0.1916|.	M|M	0.64630|0.64630	1.985|1.985	0.31889|0.31889	N|N	0.617461|0.617461	D;D;D|.	0.71674|.	0.998;0.998;0.997|.	D;D;D|.	0.80764|.	0.987;0.994;0.985|.	T|.	0.58918|.	-0.7551|.	10|.	0.62326|.	D|.	0.03|.	-9.2496|-9.2496	9.0743|9.0743	0.36511|0.36511	0.7896:0.0:0.2104:0.0|0.7896:0.0:0.2104:0.0	.|.	643;643;643|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	L|K	643|627	ENSP00000363388:F643L;ENSP00000363381:F643L;ENSP00000363382:F643L|.	ENSP00000363381:F643L|.	F|X	-|-	3|1	2|0	SUSD1|SUSD1	113860709|113860709	1.000000|1.000000	0.71417|0.71417	0.911000|0.911000	0.35937|0.35937	0.551000|0.551000	0.35334|0.35334	1.139000|1.139000	0.31504|0.31504	0.066000|0.066000	0.16515|0.16515	-0.411000|-0.411000	0.06167|0.06167	TTT|TAG		0.478	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		T	114820888	A	T	114820888	3	4	625	1	0	0	0	0	1	0	0	0	15412	359	13	5	330	5	SUSD1	9	114820888	Missense_Mutation	SNP	A	TCGA-DW-7841-01A-11D-2136-08	2	114820888	26392543	20	34059	256	2									
COL17A1	1308	hgsc.bcm.edu	37	10	105793785	105793785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr10:105793785delG	ENST00000353479.5	-	52	4364	c.4074delC	c.(4072-4074)ggcfs	p.G1358fs	COL17A1_ENST00000369733.3_Frame_Shift_Del_p.G1276fs	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1358	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTCCGCCATTGCCAGCATACA	0.572																																																0													98	95	96					10																	105793785		2203	4300	6503	SO:0001589	frameshift_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.4074delC	chr10.hg19:g.105793785delG	ENSP00000340937:p.Gly1358fs		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Frame_Shift_Del	DEL	ENST00000353479.5	hg19	CCDS7554.1																																																																																				0.572	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		-	105793785	G	-	105793785	7	5	625	1	0	1	0	1	0	0	0	0	3676	1306	46	0	439	0	COL17A1	10	105793785	Frame_Shift_Del	DEL	G	TCGA-DW-7841-01A-11D-2136-08		105793785	29740962	21	34060											
SBF2	81846	hgsc.bcm.edu	37	11	10011061	10011061	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr11:10011061C>T	ENST00000256190.8	-	13	1515	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	460					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AATAGTTGCTCAGCAAGTTCC	0.303																																																0													99	101	100					11																	10011061		2200	4292	6492	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1378G>A	chr11.hg19:g.10011061C>T	ENSP00000256190:p.Glu460Lys		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	hg19	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489124	0.84962	.	.	ENSG00000133812	ENST00000256190	D	0.85629	-2.01	6.04	6.04	0.98038	.	0.230274	0.43416	D	0.000562	D	0.90539	0.7035	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86724	0.1944	10	0.25106	T	0.35	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	460	Q86WG5	MTMRD_HUMAN	K	460	ENSP00000256190:E460K	ENSP00000256190:E460K	E	-	1	0	SBF2	9967637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.324000	0.65863	2.873000	0.98535	0.563000	0.77884	GAG		0.303	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		T	10011061	C	T	10011061	3	4	625	1	0	0	0	0	1	0	0	0	13865	835	29	2	4283	2	SBF2	11	10011061	Missense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08		10011061	124995455	22	34061											
SLCO2B1	11309	hgsc.bcm.edu	37	11	74880776	74880776	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr11:74880776C>A	ENST00000289575.5	+	6	1143	c.748C>A	c.(748-750)Cgc>Agc	p.R250S	SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R134S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R228S|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R106S|SLCO2B1_ENST00000454962.2_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	250					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R250C(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCTCATGCTGCGCCTTTATGT	0.542																																																1	Substitution - Missense(1)	large_intestine(1)											128	120	123					11																	74880776		2200	4293	6493	SO:0001583	missense	11309			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.748C>A	chr11.hg19:g.74880776C>A	ENSP00000289575:p.Arg250Ser		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	hg19	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010553	0.54361	.	.	ENSG00000137491	ENST00000289575;ENST00000532236;ENST00000525650;ENST00000428359;ENST00000526839	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.83	2.77	0.32553	Major facilitator superfamily domain, general substrate transporter (1);	0.060626	0.64402	N	0.000004	T	0.41558	0.1164	L	0.39566	1.225	0.80722	D	1	P;P	0.49358	0.812;0.923	B;P	0.51170	0.425;0.661	T	0.15838	-1.0423	10	0.29301	T	0.29	.	11.6849	0.51481	0.326:0.674:0.0:0.0	.	106;250	E9PPU8;O94956	.;SO2B1_HUMAN	S	250;134;106;228;126	ENSP00000289575:R250S;ENSP00000434112:R134S;ENSP00000436324:R106S;ENSP00000388912:R228S;ENSP00000434742:R126S	ENSP00000289575:R250S	R	+	1	0	SLCO2B1	74558424	0.932000	0.31603	0.996000	0.52242	0.937000	0.57800	1.528000	0.35985	1.218000	0.43458	0.650000	0.86243	CGC		0.542	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		A	74880776	C	A	74880776	3	1	625	1	0	0	0	0	1	0	0	0	14733	768	27	4	770	4	SLCO2B1	11	74880776	Missense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08	64869715	74880776	60125740	23	34062											
BAZ2A	11176	hgsc.bcm.edu	37	12	57005874	57005874	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr12:57005874G>A	ENST00000551812.1	-	6	1491	c.1298C>T	c.(1297-1299)aCc>aTc	p.T433I	BAZ2A_ENST00000179765.5_Missense_Mutation_p.T401I|BAZ2A_ENST00000549884.1_Missense_Mutation_p.T431I|BAZ2A_ENST00000379441.3_Missense_Mutation_p.T403I	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	433					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGCTGGGGAGGTTGTTGGCGA	0.542																																																0													101	115	110					12																	57005874		2101	4218	6319	SO:0001583	missense	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1298C>T	chr12.hg19:g.57005874G>A	ENSP00000446880:p.Thr433Ile		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	hg19	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.854|6.854	0.526813|0.526813	0.13066|0.13066	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000551996|ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	.|T;T;T;T	.|0.58210	.|0.35;0.35;0.35;0.35	5.45|5.45	-0.694|-0.694	0.11294|0.11294	.|.	.|1.012260	.|0.07909	.|N	.|0.973899	T|T	0.29355|0.29355	0.0731|0.0731	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999997|0.999997	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.23048|0.23048	-1.0199|-1.0199	5|10	.|0.72032	.|D	.|0.01	.|.	5.0786|5.0786	0.14644|0.14644	0.2123:0.0:0.5335:0.2543|0.2123:0.0:0.5335:0.2543	.|.	.|431;433	.|F8VU39;Q9UIF9	.|.;BAZ2A_HUMAN	S|I	81|403;401;433;431	.|ENSP00000368754:T403I;ENSP00000179765:T401I;ENSP00000446880:T433I;ENSP00000447941:T431I	.|ENSP00000179765:T401I	P|T	-|-	1|2	0|0	BAZ2A|BAZ2A	55292141|55292141	0.835000|0.835000	0.29415|0.29415	0.009000|0.009000	0.14445|0.14445	0.194000|0.194000	0.23727|0.23727	0.260000|0.260000	0.18424|0.18424	-0.209000|-0.209000	0.10156|0.10156	-0.182000|-0.182000	0.12963|0.12963	CCT|ACC		0.542	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		A	57005874	G	A	57005874	3	1	625	1	0	0	0	0	1	0	0	0	1331	1261	44	2	4515	2	BAZ2A	12	57005874	Missense_Mutation	SNP	G	TCGA-DW-7841-01A-11D-2136-08		57005874	76846021	24	34063											
MLXIP	22877	hgsc.bcm.edu	37	12	122618012	122618012	+	Silent	SNP	C	C	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr12:122618012C>A	ENST00000319080.7	+	9	1342	c.1210C>A	c.(1210-1212)Cgg>Agg	p.R404R	MLXIP_ENST00000377037.2_Silent_p.R11R|MLXIP_ENST00000538698.1_Silent_p.R11R					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ACACACCTCCCGGACTGAGGA	0.647																																					Esophageal Squamous(105;787 1493 16200 18566 52466)											0													24	28	27					12																	122618012		2043	4171	6214	SO:0001819	synonymous_variant	22877			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1210C>A	chr12.hg19:g.122618012C>A				Silent	SNP	ENST00000319080.7	hg19																																																																																					0.647	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		A	122618012	C	A	122618012	2	1	625	1	0	0	0	0	0	0	0	1	9638	643	23	4		4	MLXIP	12	122618012	Silent	SNP	C	TCGA-DW-7841-01A-11D-2136-08	65612138	122618012	11233883	25	34064											
KBTBD7	84078	hgsc.bcm.edu	37	13	41767953	41767953	+	Silent	SNP	G	G	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr13:41767953G>A	ENST00000379483.3	-	1	749	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	147										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCATGTCGGAGGCCGCGTACA	0.587																																																0													109	91	97					13																	41767953		2203	4300	6503	SO:0001819	synonymous_variant	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.441C>T	chr13.hg19:g.41767953G>A			B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	ENST00000379483.3	hg19	CCDS9377.1																																																																																				0.587	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		A	41767953	G	A	41767953	2	1	625	1	0	0	0	0	0	0	0	1	8000	987	35	2		2	KBTBD7	13	41767953	Silent	SNP	G	TCGA-DW-7841-01A-11D-2136-08		41767953	73401925	26	34065											
TDRD3	81550	hgsc.bcm.edu	37	13	61103190	61103190	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr13:61103190G>A	ENST00000196169.3	+	11	2340	c.1552G>A	c.(1552-1554)Gct>Act	p.A518T	TDRD3_ENST00000377894.2_Missense_Mutation_p.A518T|TDRD3_ENST00000535286.1_Missense_Mutation_p.A611T|TDRD3_ENST00000377881.2_Missense_Mutation_p.A518T	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	518					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACCTGTCACAGCTGTACCCTG	0.398																																					Colon(36;164 906 35820 50723)											0													54	54	54					13																	61103190		2203	4300	6503	SO:0001583	missense	81550			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1552G>A	chr13.hg19:g.61103190G>A	ENSP00000196169:p.Ala518Thr		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	hg19	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.023813	0.02061	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.26	5.84	-1.01	0.10169	.	0.741305	0.14224	N	0.333183	D	0.85974	0.5822	L	0.47716	1.5	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.68911	-0.5284	10	0.12103	T	0.63	-1.2106	3.7879	0.08707	0.4174:0.0981:0.3852:0.0994	.	611;517;518	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	T	518;518;518;611	ENSP00000196169:A518T;ENSP00000367113:A518T;ENSP00000367126:A518T;ENSP00000440190:A611T	ENSP00000196169:A518T	A	+	1	0	TDRD3	60001191	0.000000	0.05858	0.000000	0.03702	0.389000	0.30415	0.087000	0.14958	-0.343000	0.08351	-0.813000	0.03139	GCT		0.398	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		A	61103190	G	A	61103190	3	1	625	1	0	0	0	0	1	0	0	0	15737	971	34	2	1873	2	TDRD3	13	61103190	Missense_Mutation	SNP	G	TCGA-DW-7841-01A-11D-2136-08	19335237	61103190	54066688	27	34066											
FANCM	57697	hgsc.bcm.edu	37	14	45650876	45650876	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr14:45650876G>A	ENST00000267430.5	+	16	4439	c.4354G>A	c.(4354-4356)Gct>Act	p.A1452T	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.A1426T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1452					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TCCACTTCATGCTGTCAAAAA	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													59	60	60					14																	45650876		2203	4296	6499	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4354G>A	chr14.hg19:g.45650876G>A	ENSP00000267430:p.Ala1452Thr		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	hg19	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.897408|3.897408	0.72639|0.72639	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.20069|.	2.7;2.7;2.1|.	5.25|5.25	4.36|4.36	0.52297|0.52297	.|.	0.807093|.	0.11373|.	N|.	0.570657|.	T|T	0.39600|0.39600	0.1084|0.1084	L|L	0.43152|0.43152	1.355|1.355	0.29859|0.29859	N|N	0.827775|0.827775	D;P|.	0.65815|.	0.995;0.953|.	P;P|.	0.53760|.	0.734;0.631|.	T|T	0.35051|0.35051	-0.9804|-0.9804	10|5	0.14656|.	T|.	0.56|.	.|.	8.1721|8.1721	0.31260|0.31260	0.1826:0.0:0.8174:0.0|0.1826:0.0:0.8174:0.0	.|.	1426;1452|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	T|Y	1452;1426;968|384	ENSP00000267430:A1452T;ENSP00000442493:A1426T;ENSP00000452033:A968T|.	ENSP00000267430:A1452T|.	A|C	+|+	1|2	0|0	FANCM|FANCM	44720626|44720626	0.997000|0.997000	0.39634|0.39634	0.995000|0.995000	0.50966|0.50966	0.985000|0.985000	0.73830|0.73830	3.470000|3.470000	0.53100|0.53100	1.348000|1.348000	0.45733|0.45733	0.467000|0.467000	0.42956|0.42956	GCT|TGC		0.318	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		A	45650876	G	A	45650876	3	1	625	1	0	0	0	0	1	0	0	0	5673	1319	46	2	4416	2	FANCM	14	45650876	Missense_Mutation	SNP	G	TCGA-DW-7841-01A-11D-2136-08		45650876	61698664	28	34067											
TBPL2	387332	hgsc.bcm.edu	37	14	55890942	55890942	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr14:55890942A>C	ENST00000247219.5	-	6	1056	c.986T>G	c.(985-987)aTt>aGt	p.I329S		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CATTCTATAAATAAGACCAGG	0.348																																																0													110	102	105					14																	55890942		2203	4298	6501	SO:0001583	missense	387332			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.986T>G	chr14.hg19:g.55890942A>C	ENSP00000247219:p.Ile329Ser			Missense_Mutation	SNP	ENST00000247219.5	hg19	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464312	0.84425	.	.	ENSG00000182521	ENST00000247219	T	0.57273	0.41	5.41	5.41	0.78517	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.054773	0.64402	D	0.000001	T	0.75889	0.3911	M	0.93939	3.475	0.80722	D	1	D	0.63880	0.993	P	0.57776	0.827	T	0.83328	-0.0014	10	0.87932	D	0	-12.6468	14.6315	0.68660	1.0:0.0:0.0:0.0	.	329	Q6SJ96	TBPL2_HUMAN	S	329	ENSP00000247219:I329S	ENSP00000247219:I329S	I	-	2	0	TBPL2	54960695	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.138000	0.94501	2.050000	0.60909	0.528000	0.53228	ATT		0.348	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		C	55890942	A	C	55890942	3	2	625	1	0	0	0	0	1	0	0	0	15651	101	4	5	149	5	TBPL2	14	55890942	Missense_Mutation	SNP	A	TCGA-DW-7841-01A-11D-2136-08	10240066	55890942	51458598	29	34068											
KCNH5	27133	hgsc.bcm.edu	37	14	63447722	63447722	+	Missense_Mutation	SNP	G	G	T	rs376391048		TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr14:63447722G>T	ENST00000322893.7	-	6	1078	c.810C>A	c.(808-810)ttC>ttA	p.F270L	KCNH5_ENST00000420622.2_Missense_Mutation_p.F270L|KCNH5_ENST00000394964.2_Missense_Mutation_p.F212L|KCNH5_ENST00000394968.1_Missense_Mutation_p.F212L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	270					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGGGCCCCACGAAAGTCGTGT	0.433																																																0													61	63	62					14																	63447722		2203	4300	6503	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.810C>A	chr14.hg19:g.63447722G>T	ENSP00000321427:p.Phe270Leu		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	hg19	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505267	0.64410	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	5.54	1.95	0.26073	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95401	0.8507	M	0.64404	1.975	0.80722	D	1	P;P;D;D	0.61080	0.893;0.899;0.963;0.989	P;P;P;D	0.66084	0.602;0.603;0.603;0.941	D	0.93621	0.6948	10	0.87932	D	0	.	8.8508	0.35199	0.7805:0.0:0.2195:0.0	.	212;212;270;270	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	L	270;270;212;212	ENSP00000321427:F270L;ENSP00000395439:F270L;ENSP00000378419:F212L;ENSP00000378415:F212L	ENSP00000321427:F270L	F	-	3	2	KCNH5	62517475	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	1.301000	0.33447	0.086000	0.17137	-0.482000	0.04802	TTC		0.433	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		T	63447722	G	T	63447722	3	4	625	1	0	0	0	0	1	0	0	0	8037	1049	37	4	2214	4	KCNH5	14	63447722	Missense_Mutation	SNP	G	TCGA-DW-7841-01A-11D-2136-08	7556780	63447722	43901818	30	34069											
RYR3	6263	hgsc.bcm.edu	37	15	33603296	33603296	+	Splice_Site	SNP	C	C	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr15:33603296C>T	ENST00000389232.4	+	1	120	c.50C>T	c.(49-51)aCt>aTt	p.T17I	RP11-489D6.2_ENST00000559457.1_RNA|RYR3_ENST00000415757.3_Splice_Site_p.T17I|RP11-489D6.2_ENST00000561458.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	17					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)		TTTCTGAGGACTGTGAGTCTC	0.756																																																0													25	32	30					15																	33603296		1919	4113	6032	SO:0001630	splice_region_variant	6263				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.51+1C>T	chr15.hg19:g.33603296C>T			O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077125	0.55753	.	.	ENSG00000198838	ENST00000389232;ENST00000415757	D;D	0.98090	-4.71;-4.71	4.63	3.7	0.42460	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	1.170300	0.06443	U	0.726384	D	0.96987	0.9016	L	0.49126	1.545	0.38096	D	0.937129	B;B	0.29253	0.144;0.239	B;B	0.38264	0.126;0.269	D	0.90850	0.4730	10	0.54805	T	0.06	.	12.9534	0.58413	0.1639:0.8361:0.0:0.0	.	17;17	Q15413-2;Q15413	.;RYR3_HUMAN	I	17	ENSP00000373884:T17I;ENSP00000399610:T17I	ENSP00000373884:T17I	T	+	2	0	RYR3	31390588	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.045000	0.64220	1.130000	0.42092	0.462000	0.41574	ACT		0.756	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation	T	33603296	C	T	33603296	5	4	625	1	0	0	0	0	0	0	1	0	13776	579	20	2	52	2	RYR3	15	33603296	Splice_Site	SNP	C	TCGA-DW-7841-01A-11D-2136-08		33603296	68928096	31	34070											
TLN2	83660	hgsc.bcm.edu	37	15	63097949	63097949	+	Silent	SNP	C	C	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr15:63097949C>A	ENST00000561311.1	+	50	6858	c.6628C>A	c.(6628-6630)Cgg>Agg	p.R2210R	TLN2_ENST00000306829.6_Silent_p.R2210R			Q9Y4G6	TLN2_HUMAN	talin 2	2210					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAACCTGAGCCGGAAAGCCGT	0.517																																																0													84	72	76					15																	63097949		2203	4300	6503	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6628C>A	chr15.hg19:g.63097949C>A			A6NLB8	Silent	SNP	ENST00000561311.1	hg19	CCDS32261.1																																																																																				0.517	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			A	63097949	C	A	63097949	2	1	625	1	0	0	0	0	0	0	0	1	15953	643	23	4		4	TLN2	15	63097949	Silent	SNP	C	TCGA-DW-7841-01A-11D-2136-08	29494653	63097949	39433443	32	34071											
ADPGK	83440	hgsc.bcm.edu	37	15	73045222	73045222	+	Silent	SNP	C	C	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr15:73045222C>A	ENST00000311669.8	-	7	1044	c.951G>T	c.(949-951)gcG>gcT	p.A317A	ADPGK_ENST00000567733.1_5'Flank|ADPGK_ENST00000456471.2_Silent_p.A43A	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	318	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GGGAAGTCACCGCGGGAAAGA	0.478																																																0													36	36	36					15																	73045222		1925	4115	6040	SO:0001819	synonymous_variant	83440			AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.951G>T	chr15.hg19:g.73045222C>A			Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Silent	SNP	ENST00000311669.8	hg19	CCDS42057.1																																																																																				0.478	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		A	73045222	C	A	73045222	2	1	625	1	0	0	0	0	0	0	0	1	330	639	23	4		4	ADPGK	15	73045222	Silent	SNP	C	TCGA-DW-7841-01A-11D-2136-08	9947273	73045222	29486170	33	34072											
WDR90	197335	hgsc.bcm.edu	37	16	716291	716291	+	Missense_Mutation	SNP	C	C	A	rs143767432	byFrequency	TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr16:716291C>A	ENST00000293879.4	+	37	4681	c.4681C>A	c.(4681-4683)Cgt>Agt	p.R1561S	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000549091.1_Missense_Mutation_p.R1563S|WDR90_ENST00000315764.4_Missense_Mutation_p.R160S|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000547944.1_Missense_Mutation_p.R160S			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1561										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GACAACCTTCCGTGTGCTGAG	0.627																																																0													46	55	52					16																	716291		2025	4175	6200	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4681C>A	chr16.hg19:g.716291C>A	ENSP00000293879:p.Arg1561Ser		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	hg19	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532400	0.64972	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.66099	3.39;1.54;-0.19;1.59	3.96	3.0	0.34707	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.649291	0.16302	N	0.220408	T	0.74898	0.3777	M	0.84433	2.695	0.49051	D	0.999749	D;D;D;D	0.89917	0.999;1.0;0.98;0.998	D;D;P;P	0.71184	0.972;0.968;0.671;0.892	T	0.73981	-0.3811	10	0.08837	T	0.75	.	9.2755	0.37696	0.0:0.8986:0.0:0.1014	.	160;160;160;1561	Q96KV7-10;Q96KV7-7;G3V201;Q96KV7	.;.;.;WDR90_HUMAN	S	1563;1561;160;160	ENSP00000448122:R1563S;ENSP00000293879:R1561S;ENSP00000449576:R160S;ENSP00000322808:R160S	ENSP00000293879:R1561S	R	+	1	0	WDR90	656292	0.083000	0.21467	0.303000	0.25071	0.729000	0.41735	1.907000	0.39897	0.877000	0.35895	0.561000	0.74099	CGT		0.627	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		A	716291	C	A	716291	3	1	625	1	0	0	0	0	1	0	0	0	17342	652	23	4	4827	4	WDR90	16	716291	Missense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08		716291	89638462	34	34073											
TMC5	79838	hgsc.bcm.edu	37	16	19498618	19498618	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr16:19498618T>C	ENST00000396229.2	+	17	3292	c.2543T>C	c.(2542-2544)gTc>gCc	p.V848A	TMC5_ENST00000561503.1_Missense_Mutation_p.V489A|TMC5_ENST00000541464.1_Missense_Mutation_p.V796A|TMC5_ENST00000564959.1_Missense_Mutation_p.V531A|TMC5_ENST00000381414.4_Missense_Mutation_p.V848A|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.V848A|TMC5_ENST00000219821.5_Missense_Mutation_p.V602A	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	848					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCACCGGGGTCTTGTGCACC	0.522																																																0													67	58	61					16																	19498618		2197	4300	6497	SO:0001583	missense	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2543T>C	chr16.hg19:g.19498618T>C	ENSP00000379531:p.Val848Ala		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	hg19	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144011	0.57044	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.67523	-0.11;-0.09;-0.13;-0.13;-0.27	5.72	3.48	0.39840	.	0.235749	0.43110	N	0.000604	T	0.43010	0.1228	N	0.13299	0.325	0.37439	D	0.914337	B;B;B;B;B;B	0.26120	0.142;0.001;0.025;0.014;0.019;0.018	B;B;B;B;B;B	0.24006	0.05;0.003;0.05;0.022;0.022;0.034	T	0.28073	-1.0055	10	0.08837	T	0.75	-19.7366	9.3727	0.38264	0.0:0.148:0.0:0.852	.	796;531;602;602;848;848	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	A	796;848;848;848;602;531	ENSP00000441227:V796A;ENSP00000370822:V848A;ENSP00000379531:V848A;ENSP00000446274:V848A;ENSP00000219821:V602A	ENSP00000219821:V602A	V	+	2	0	TMC5	19406119	1.000000	0.71417	0.948000	0.38648	0.985000	0.73830	3.080000	0.50112	0.443000	0.26582	0.533000	0.62120	GTC		0.522	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		C	19498618	T	C	19498618	3	2	625	1	0	0	0	0	1	0	0	0	15993	1667	58	3	2915	3	TMC5	16	19498618	Missense_Mutation	SNP	T	TCGA-DW-7841-01A-11D-2136-08	18782327	19498618	70856135	35	34074											
GTF3C1	2975	hgsc.bcm.edu	37	16	27519910	27519910	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr16:27519910A>G	ENST00000356183.4	-	8	1208	c.1193T>C	c.(1192-1194)cTa>cCa	p.L398P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L398P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	398					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTTGCTTCTAGTTTTCCCAC	0.468																																																0													195	159	171					16																	27519910		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1193T>C	chr16.hg19:g.27519910A>G	ENSP00000348510:p.Leu398Pro		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353988	0.82243	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.32272	1.46	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.45597	0.1350	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.45190	-0.9278	10	0.72032	D	0.01	-4.7197	15.1534	0.72720	1.0:0.0:0.0:0.0	.	398;398	Q12789;Q12789-3	TF3C1_HUMAN;.	P	398;396	ENSP00000348510:L398P	ENSP00000348510:L398P	L	-	2	0	GTF3C1	27427411	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.677000	0.91203	2.054000	0.61138	0.528000	0.53228	CTA		0.468	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		G	27519910	A	G	27519910	3	3	625	1	0	0	0	0	1	0	0	0	6874	420	15	3	5256	3	GTF3C1	16	27519910	Missense_Mutation	SNP	A	TCGA-DW-7841-01A-11D-2136-08	8021292	27519910	62834843	36	34075											
PELP1	27043	hgsc.bcm.edu	37	17	4575082	4575082	+	Silent	SNP	C	C	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:4575082C>T	ENST00000574876.1	-	16	3221	c.3204G>A	c.(3202-3204)gaG>gaA	p.E1068E	PELP1_ENST00000436683.2_Silent_p.E844E|PELP1_ENST00000572293.1_Silent_p.E1118E|PELP1_ENST00000301396.4_Silent_p.E1212E|PELP1_ENST00000269230.7_Silent_p.E978E			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1068	Glu-rich.|Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CATCCTCAGTCTCCTCTTCCA	0.602																																																0													27	28	27					17																	4575082		1913	4111	6024	SO:0001819	synonymous_variant	27043				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.3204G>A	chr17.hg19:g.4575082C>T			O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	hg19	CCDS58503.1																																																																																				0.602	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		T	4575082	C	T	4575082	2	4	625	1	0	0	0	0	0	0	0	1	11727	912	32	2		2	PELP1	17	4575082	Silent	SNP	C	TCGA-DW-7841-01A-11D-2136-08		4575082	76620128	37	34076											
SOX15	6665	hgsc.bcm.edu	37	17	7492754	7492754	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:7492754T>C	ENST00000250055.2	-	1	734	c.241A>G	c.(241-243)Aag>Gag	p.K81E	SOX15_ENST00000570788.1_Missense_Mutation_p.K81E|MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000538513.2_Missense_Mutation_p.K81E	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	81					cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|male gonad development (GO:0008584)|myoblast development (GO:0048627)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue regeneration (GO:0043403)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)	2						CCCAGGCGCTTGGAGATCTCG	0.667											OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													31	34	33					17																	7492754		2203	4300	6503	SO:0001583	missense	6665			AJ006222	CCDS32549.1	17p13.1	2014-08-12	2002-07-22	2002-07-26	ENSG00000129194	ENSG00000129194		"SRY (sex determining region Y)-boxes"	11196	protein-coding gene	gene with protein product		601297	"SRY (sex determining region Y)-box 20"	SOX20		8978787, 9730625	Standard	NM_006942		Approved	SOX27, SOX26	uc002ghz.1	O60248	OTTHUMG00000178146	ENST00000250055.2:c.241A>G	chr17.hg19:g.7492754T>C	ENSP00000355354:p.Lys81Glu	642	B4DWU7|D3DTQ0|P35717|Q9Y6W7	Missense_Mutation	SNP	ENST00000250055.2	hg19	CCDS32549.1	.	.	.	.	.	.	.	.	.	.	T	35	5.577422	0.96565	.	.	ENSG00000129194	ENST00000250055;ENST00000538513	D;D	0.98717	-5.09;-5.09	5.38	5.38	0.77491	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.111127	0.41097	D	0.000944	D	0.99414	0.9793	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98487	1.0608	10	0.87932	D	0	.	13.4332	0.61068	0.0:0.0:0.0:1.0	.	81	O60248	SOX15_HUMAN	E	81	ENSP00000355354:K81E;ENSP00000439311:K81E	ENSP00000355354:K81E	K	-	1	0	SOX15	7433478	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.098000	0.71458	2.276000	0.75962	0.454000	0.30748	AAG		0.667	SOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440757.1	NM_006942		C	7492754	T	C	7492754	3	2	625	1	0	0	0	0	1	0	0	0	14952	1821	63	3	468	3	SOX15	17	7492754	Missense_Mutation	SNP	T	TCGA-DW-7841-01A-11D-2136-08	2917672	7492754	73702456	38	34077											
TLCD1	116238	hgsc.bcm.edu	37	17	27052951	27052951	+	Silent	SNP	G	G	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:27052951G>T	ENST00000292090.3	-	1	275	c.165C>A	c.(163-165)tcC>tcA	p.S55S	SNORD42A_ENST00000459584.1_RNA|AC010761.14_ENST00000587898.1_RNA|NEK8_ENST00000268766.6_5'Flank|SNORD4B_ENST00000459083.1_RNA|TLCD1_ENST00000394933.3_Intron	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	55	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					CCGACACAATGGAGTGAGCGA	0.682																																																0													25	24	24					17																	27052951		2203	4300	6503	SO:0001819	synonymous_variant	116238			BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.165C>A	chr17.hg19:g.27052951G>T			A8MYP9	Silent	SNP	ENST00000292090.3	hg19	CCDS11242.1																																																																																				0.682	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1	NM_138463		T	27052951	G	T	27052951	2	4	625	1	0	0	0	0	0	0	0	1	15942	1335	47	4		4	TLCD1	17	27052951	Silent	SNP	G	TCGA-DW-7841-01A-11D-2136-08	19560197	27052951	54142259	39	34078											
PIPOX	51268	hgsc.bcm.edu	37	17	27380072	27380083	+	In_Frame_Del	DEL	GGTTGCCCAGGG	GGTTGCCCAGGG	-	rs148024165	byFrequency	TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	GGTTGCCCAGGG	GGTTGCCCAGGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:27380072_27380083delGGTTGCCCAGGG	ENST00000323372.4	+	3	724_735	c.398_409delGGTTGCCCAGGG	c.(397-411)cggttgcccagggga>cga	p.LPRG134del	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	134					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CCAAATATTCGGTTGCCCAGGGGAGAAGTGGG	0.495																																																0																																										SO:0001651	inframe_deletion	51268			AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"L-pipecolic acid oxidase"					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.398_409delGGTTGCCCAGGG	chr17.hg19:g.27380072_27380083delGGTTGCCCAGGG	ENSP00000317721:p.Leu134_Gly137del		B3KNH0|Q96H28|Q9C070	In_Frame_Del	DEL	ENST00000323372.4	hg19	CCDS11248.1																																																																																				0.495	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		-	27380083	GGTTGCCCAGGG	-	27380072	7	5	625	1	0	1	0	1	0	0	0	0	11945	1116	39	0	408	0	PIPOX	17	27380072	In_Frame_Del	DEL	GGTTGCCCAGGG	TCGA-DW-7841-01A-11D-2136-08	327121	27380072	53815138	40	34079											
DDX52	11056	hgsc.bcm.edu	37	17	36003445	36003445	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:36003445T>C	ENST00000349699.2	-	1	48	c.5A>G	c.(4-6)gAc>gGc	p.D2G	DDX52_ENST00000394367.3_5'UTR|RP11-697E22.2_ENST00000586950.1_RNA|RP11-697E22.2_ENST00000586163.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	2						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ATCGTGGACGTCCATCTTTAC	0.622																																																0													43	43	43					17																	36003445		2203	4300	6503	SO:0001583	missense	11056			AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"DEAD-boxes"	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.5A>G	chr17.hg19:g.36003445T>C	ENSP00000268854:p.Asp2Gly		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	hg19	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.847823	0.91277	.	.	ENSG00000141141	ENST00000349699	T	0.18960	2.18	5.26	5.26	0.73747	.	37.662000	0.00397	N	0.000053	T	0.40196	0.1107	L	0.54323	1.7	0.80722	D	1	D	0.61697	0.99	P	0.54140	0.743	T	0.03545	-1.1026	10	0.87932	D	0	.	11.4972	0.50415	0.0:0.0:0.0:1.0	.	2	Q9Y2R4	DDX52_HUMAN	G	2	ENSP00000268854:D2G	ENSP00000268854:D2G	D	-	2	0	DDX52	33077558	0.996000	0.38824	0.931000	0.37212	0.923000	0.55619	3.812000	0.55628	2.218000	0.71995	0.533000	0.62120	GAC		0.622	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		C	36003445	T	C	36003445	3	2	625	1	0	0	0	0	1	0	0	0	4372	1667	58	3	1854	3	DDX52	17	36003445	Missense_Mutation	SNP	T	TCGA-DW-7841-01A-11D-2136-08	8623373	36003445	45191765	41	34080											
KRT27	342574	hgsc.bcm.edu	37	17	38933310	38933310	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:38933310T>C	ENST00000301656.3	-	8	1361	c.1321A>G	c.(1321-1323)Act>Gct	p.T441A	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTTCCACAGTGTGAACTCTG	0.413																																																0													118	121	120					17																	38933310		2203	4300	6503	SO:0001583	missense	342574			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1321A>G	chr17.hg19:g.38933310T>C	ENSP00000301656:p.Thr441Ala			Missense_Mutation	SNP	ENST00000301656.3	hg19	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053696	0.36277	.	.	ENSG00000171446	ENST00000301656	D	0.82081	-1.57	5.66	1.64	0.23874	.	0.290739	0.30260	N	0.010040	T	0.63534	0.2519	N	0.19112	0.55	0.19945	N	0.999941	B	0.02656	0.0	B	0.01281	0.0	T	0.47849	-0.9085	10	0.36615	T	0.2	.	0.5754	0.00702	0.2019:0.1756:0.1465:0.4761	.	441	Q7Z3Y8	K1C27_HUMAN	A	441	ENSP00000301656:T441A	ENSP00000301656:T441A	T	-	1	0	KRT27	36186836	0.000000	0.05858	0.645000	0.29479	0.941000	0.58515	-0.027000	0.12371	0.471000	0.27319	0.528000	0.53228	ACT		0.413	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		C	38933310	T	C	38933310	3	2	625	1	0	0	0	0	1	0	0	0	8466	1696	59	3	62	3	KRT27	17	38933310	Missense_Mutation	SNP	T	TCGA-DW-7841-01A-11D-2136-08	2929865	38933310	42261900	42	34081											
FOXJ1	2302	hgsc.bcm.edu	37	17	74134123	74134123	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:74134123C>A	ENST00000322957.6	-	3	931	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	193					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CGCCAGAAGCCCCCCTTGCCT	0.607																																																0													39	43	41					17																	74134123		2203	4300	6503	SO:0001583	missense	2302			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.577G>T	chr17.hg19:g.74134123C>A	ENSP00000323880:p.Gly193Cys		O00630	Missense_Mutation	SNP	ENST00000322957.6	hg19	CCDS32739.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986309	0.74589	.	.	ENSG00000129654	ENST00000322957	D	0.95482	-3.72	4.68	4.68	0.58851	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96580	0.8884	L	0.42581	1.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97558	1.0096	10	0.87932	D	0	.	17.5787	0.87958	0.0:1.0:0.0:0.0	.	193	Q92949	FOXJ1_HUMAN	C	193	ENSP00000323880:G193C	ENSP00000323880:G193C	G	-	1	0	FOXJ1	71645718	1.000000	0.71417	0.999000	0.59377	0.602000	0.36980	5.893000	0.69798	2.153000	0.67306	0.561000	0.74099	GGC		0.607	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		A	74134123	C	A	74134123	3	1	625	1	0	0	0	0	1	0	0	0	6013	623	22	4	692	4	FOXJ1	17	74134123	Missense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08	35200813	74134123	7061087	43	34082											
C17orf70	80233	hgsc.bcm.edu	37	17	79514289	79514299	+	Frame_Shift_Del	DEL	TGAGACTGTAG	TGAGACTGTAG	-			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	TGAGACTGTAG	TGAGACTGTAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:79514289_79514299delTGAGACTGTAG	ENST00000327787.8	-	5	1855_1865	c.1809_1819delCTACAGTCTCA	c.(1807-1821)ttctacagtctcaggfs	p.FYSLR603fs	C17orf70_ENST00000537152.1_Frame_Shift_Del_p.FYSLR452fs|C17orf70_ENST00000425898.2_Frame_Shift_Del_p.FYSLR252fs			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	603					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACCACCTCCCTGAGACTGTAGAACAGCGTGC	0.682																																																0																																										SO:0001589	frameshift_variant	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1809_1819delCTACAGTCTCA	chr17.hg19:g.79514289_79514299delTGAGACTGTAG	ENSP00000333283:p.Phe603fs		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Frame_Shift_Del	DEL	ENST00000327787.8	hg19	CCDS32765.2																																																																																				0.682	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		-	79514299	TGAGACTGTAG	-	79514289	7	5	625	1	0	1	0	1	0	0	0	0	1879	1579	55	0	846	0	C17orf70	17	79514289	Frame_Shift_Del	DEL	TGAGACTGTAG	TCGA-DW-7841-01A-11D-2136-08	5380166	79514289	1680921	44	34083											
ARID3A	1820	hgsc.bcm.edu	37	19	971936	971936	+	Silent	SNP	C	C	G	rs138086881	byFrequency	TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr19:971936C>G	ENST00000263620.3	+	9	1980	c.1653C>G	c.(1651-1653)ggC>ggG	p.G551G		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	551	Gly-rich.|Important for cytoplasmic localization. {ECO:0000250}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAAGGAggcggcggcggcg	0.657																																					Pancreas(29;54 1022 32760 50921)											0													25	33	30					19																	971936		2196	4289	6485	SO:0001819	synonymous_variant	1820			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1653C>G	chr19.hg19:g.971936C>G			Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	hg19	CCDS12050.1																																																																																				0.657	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		G	971936	C	G	971936	2	3	625	1	0	0	0	0	0	0	0	1	916	755	27	4		4	ARID3A	19	971936	Silent	SNP	C	TCGA-DW-7841-01A-11D-2136-08		971936	58157047	45	34084											
CACNG7	59284	hgsc.bcm.edu	37	19	54418709	54418709	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr19:54418709C>A	ENST00000391767.1	+	4	586	c.374C>A	c.(373-375)cCg>cAg	p.P125Q	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.P125Q|CACNG7_ENST00000222212.2_Missense_Mutation_p.P125Q			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	125					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.P125L(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CACATCCGCCCGCAGAGGACC	0.597																																																1	Substitution - Missense(1)	large_intestine(1)											115	101	105					19																	54418709		2203	4300	6503	SO:0001583	missense	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.374C>A	chr19.hg19:g.54418709C>A	ENSP00000375647:p.Pro125Gln		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	hg19	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110454	0.77210	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.88509	-2.39;-2.39;-2.39	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.92368	0.7578	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.89898	0.4042	10	0.22109	T	0.4	-9.9231	14.2221	0.65833	0.0:1.0:0.0:0.0	.	125	P62955	CCG7_HUMAN	Q	125	ENSP00000375647:P125Q;ENSP00000222212:P125Q;ENSP00000375646:P125Q	ENSP00000222212:P125Q	P	+	2	0	CACNG7	59110521	1.000000	0.71417	0.963000	0.40424	0.979000	0.70002	7.180000	0.77674	2.469000	0.83416	0.563000	0.77884	CCG		0.597	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			A	54418709	C	A	54418709	3	1	625	1	0	0	0	0	1	0	0	0	2564	652	23	4	384	4	CACNG7	19	54418709	Missense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08	53446773	54418709	4710274	46	34085											
ZNF497	162968	hgsc.bcm.edu	37	19	58867603	58867603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr19:58867603C>A	ENST00000311044.3	-	3	1587	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*	A1BG_ENST00000263100.3_5'Flank|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|ZNF497_ENST00000425453.3_Nonsense_Mutation_p.E467*|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TAGGGCCTCTCGCCCGTGTGC	0.692																																																0													15	17	16					19																	58867603		2194	4293	6487	SO:0001587	stop_gained	162968			AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1399G>T	chr19.hg19:g.58867603C>A	ENSP00000311183:p.Glu467*		Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Nonsense_Mutation	SNP	ENST00000311044.3	hg19	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257589	0.80246	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	.	.	.	1.24	0.059	0.14330	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999969	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.3137	0.32086	0.0:0.7513:0.2487:0.0	.	.	.	.	X	467	.	ENSP00000311183:E467X	E	-	1	0	ZNF497	63559415	0.568000	0.26635	0.001000	0.08648	0.280000	0.26924	2.887000	0.48586	0.066000	0.16515	0.195000	0.17529	GAG		0.692	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		A	58867603	C	A	58867603	4	1	625	1	0	0	0	0	0	1	0	0	17951	893	31	4	101	4	ZNF497	19	58867603	Nonsense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08	4448894	58867603	261380	47	34086											
CTCFL	140690	hgsc.bcm.edu	37	20	56090837	56090837	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr20:56090837C>G	ENST00000608263.1	-	5	1774	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	CTCFL_ENST00000423479.3_Missense_Mutation_p.Q371H|CTCFL_ENST00000371196.2_Missense_Mutation_p.Q371H|CTCFL_ENST00000539382.1_Missense_Mutation_p.Q166H|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000608903.1_Missense_Mutation_p.Q109H|CTCFL_ENST00000429804.3_Missense_Mutation_p.Q371H|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000422869.2_Missense_Mutation_p.Q371H|CTCFL_ENST00000609232.1_Missense_Mutation_p.Q371H|CTCFL_ENST00000433949.3_Missense_Mutation_p.Q166H|CTCFL_ENST00000608440.1_Missense_Mutation_p.Q371H|CTCFL_ENST00000502686.2_Missense_Mutation_p.Q109H|CTCFL_ENST00000608425.1_Missense_Mutation_p.Q371H|CTCFL_ENST00000243914.3_Missense_Mutation_p.Q371H	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	371					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACTGGCAACACTGAAAGGGGC	0.473																																																0													173	164	167					20																	56090837		2203	4300	6503	SO:0001583	missense	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1113G>C	chr20.hg19:g.56090837C>G	ENSP00000476783:p.Gln371His		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	hg19	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042881	0.36085	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.24	3.07	0.35406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.342601	0.21292	N	0.076960	T	0.15869	0.0382	L	0.37466	1.105	0.39176	D	0.962686	B;B;B;B;B	0.25390	0.025;0.077;0.03;0.077;0.125	B;B;B;B;B	0.28011	0.05;0.045;0.082;0.045;0.085	T	0.09271	-1.0682	10	0.72032	D	0.01	-35.7918	5.7172	0.17966	0.0:0.5692:0.2418:0.1889	.	371;371;371;371;371	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	H	371;371;371;371;371;109;371;371;166;371	ENSP00000415579:Q371H;ENSP00000243914:Q371H;ENSP00000360239:Q371H;ENSP00000415329:Q371H;ENSP00000392034:Q371H;ENSP00000437999:Q109H;ENSP00000413713:Q371H;ENSP00000403369:Q371H;ENSP00000439998:Q166H;ENSP00000399061:Q371H	ENSP00000243914:Q371H	Q	-	3	2	CTCFL	55524243	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	1.660000	0.37397	1.327000	0.45338	0.650000	0.86243	CAG		0.473	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		G	56090837	C	G	56090837	3	3	625	1	0	0	0	0	1	0	0	0	4003	564	20	4	902	4	CTCFL	20	56090837	Missense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08		56090837	6934683	48	34087											
PDE9A	5152	hgsc.bcm.edu	37	21	44185564	44185565	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr21:44185564_44185565insG	ENST00000291539.6	+	15	1376_1377	c.1316_1317insG	c.(1315-1320)atggagfs	p.E440fs	PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.E338fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.E354fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.E306fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.E414fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.E387fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.E312fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.E373fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.E339fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.E380fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.E399fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.E280fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.E312fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.E313fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	440	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	AAAGAGAAAATGGAGAATTTTG	0.48																																																0																																										SO:0001589	frameshift_variant	5152			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1318dupG	chr21.hg19:g.44185566_44185566dupG	ENSP00000291539:p.Glu440fs		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Ins	INS	ENST00000291539.6	hg19	CCDS13690.1																																																																																				0.48	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			G	44185565	-	G	44185564	7	5	625	1	0	1	1	0	0	0	0	0	11657	1464	51	0	1454	0	PDE9A	21	44185564	Frame_Shift_Ins	INS	-	TCGA-DW-7841-01A-11D-2136-08		44185564	3944331	49	34088											
MICAL3	57553	hgsc.bcm.edu	37	22	18293564	18293564	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr22:18293564C>T	ENST00000441493.2	-	28	5813	c.5461G>A	c.(5461-5463)Gag>Aag	p.E1821K	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1821					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGTTCCTCCTCCGTGTAGGTT	0.602																																																0													78	81	80					22																	18293564		2181	4279	6460	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5461G>A	chr22.hg19:g.18293564C>T	ENSP00000416015:p.Glu1821Lys		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	hg19	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305044	0.60305	.	.	ENSG00000093100	ENST00000441493	T	0.65178	-0.14	4.81	4.81	0.61882	.	0.182495	0.46442	D	0.000288	T	0.66519	0.2797	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	P	0.60415	0.874	T	0.62407	-0.6861	10	0.21540	T	0.41	.	17.8904	0.88870	0.0:1.0:0.0:0.0	.	1821	Q7RTP6	MICA3_HUMAN	K	1821	ENSP00000416015:E1821K	ENSP00000416015:E1821K	E	-	1	0	XXbac-B461K10.4	16673564	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.818000	0.86416	2.215000	0.71742	0.462000	0.41574	GAG		0.602	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			T	18293564	C	T	18293564	3	4	625	1	0	0	0	0	1	0	0	0	9573	864	30	2	567	2	MICAL3	22	18293564	Missense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08		18293564	33011002	50	34089											
SEC14L2	23541	hgsc.bcm.edu	37	22	30805476	30805477	+	Splice_Site	INS	-	-	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr22:30805476_30805477insT	ENST00000312932.9	+	7	840		c.e7+1		RP4-539M6.19_ENST00000439838.1_Splice_Site|SEC14L2_ENST00000402592.3_Splice_Site|SEC14L2_ENST00000405717.3_Splice_Site|SEC14L2_ENST00000403484.1_Splice_Site	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)						positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GTTGTTAAAGGTAAGTTGGGAA	0.436																																																0																																										SO:0001630	splice_region_variant	23541			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.580+1->T	chr22.hg19:g.30805477_30805477dupT			B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Splice_Site	INS	ENST00000312932.9	hg19	CCDS13876.1																																																																																				0.436	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429	Intron	T	30805477	-	T	30805476	8	5	625	1	0	1	1	0	0	0	1	0	13988	1275	44	0	607	0	SEC14L2	22	30805476	Splice_Site	INS	-	TCGA-DW-7841-01A-11D-2136-08	12511912	30805476	20499090	51	34090											
MEI1	150365	hgsc.bcm.edu	37	22	42154472	42154472	+	Silent	SNP	A	A	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr22:42154472A>C	ENST00000401548.3	+	18	2095	c.2055A>C	c.(2053-2055)ggA>ggC	p.G685G	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Silent_p.G53G|MEI1_ENST00000540833.1_Silent_p.G425G|MEI1_ENST00000540880.1_Silent_p.G3G	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACATGGAGGGAGCTGCTCGCC	0.582																																																0													56	58	57					22																	42154472		2038	4190	6228	SO:0001819	synonymous_variant	150365			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2055A>C	chr22.hg19:g.42154472A>C				Silent	SNP	ENST00000401548.3	hg19	CCDS46718.1																																																																																				0.582	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		C	42154472	A	C	42154472	2	2	625	1	0	0	0	0	0	0	0	1	9467	291	11	5		5	MEI1	22	42154472	Silent	SNP	A	TCGA-DW-7841-01A-11D-2136-08	11348996	42154472	9150094	52	34091											
POLDIP3	84271	hgsc.bcm.edu	37	22	43010826	43010826	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr22:43010826C>T	ENST00000252115.5	-	1	142	c.38G>A	c.(37-39)cGc>cAc	p.R13H	POLDIP3_ENST00000339677.6_Missense_Mutation_p.R13H|RNU12_ENST00000362512.1_lincRNA|POLDIP3_ENST00000348657.2_Missense_Mutation_p.R13H	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	13					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CGCCGCCCCGCGCTTCCTGAT	0.667																																					Ovarian(52;967 1128 5875 19997 42537)											0													45	50	48					22																	43010826		2203	4300	6503	SO:0001583	missense	84271				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"RNA binding motif (RRM) containing"	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.38G>A	chr22.hg19:g.43010826C>T	ENSP00000252115:p.Arg13His		A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	hg19	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316914	0.95682	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000415122;ENST00000339677;ENST00000452567	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.76506	0.3997	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.974;0.998;0.992;0.965	T	0.79654	-0.1713	9	0.87932	D	0	-17.6392	17.5459	0.87861	0.0:1.0:0.0:0.0	.	13;13;13;13	B4E0L0;Q6R954;Q9BY77-2;Q9BY77	.;.;.;PDIP3_HUMAN	H	13	.	ENSP00000252115:R13H	R	-	2	0	POLDIP3	41340770	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.800000	0.69108	2.439000	0.82584	0.557000	0.71058	CGC		0.667	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		T	43010826	C	T	43010826	3	4	625	1	0	0	0	0	1	0	0	0	12197	768	27	1	1263	1	POLDIP3	22	43010826	Missense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08	856354	43010826	8293740	53	34092											
MCAT	27349	hgsc.bcm.edu	37	22	43533107	43533107	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr22:43533107C>T	ENST00000290429.6	-	3	754	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	MCAT_ENST00000327555.5_Intron	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	237					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CCTGAAATCACCCTGCAATCT	0.532											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													194	185	188					22																	43533107		2203	4300	6503	SO:0001583	missense	27349			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.709G>A	chr22.hg19:g.43533107C>T	ENSP00000290429:p.Val237Met	917	B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	hg19	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667793	0.88348	.	.	ENSG00000100294	ENST00000290429	T	0.52295	0.67	5.13	5.13	0.70059	Acyl transferase/acyl hydrolase/lysophospholipase (1);Malonyl-CoA ACP transacylase, ACP-binding (1);Acyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.80859	0.4704	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88241	0.2910	10	0.87932	D	0	-25.5062	18.5829	0.91178	0.0:1.0:0.0:0.0	.	237	Q8IVS2	FABD_HUMAN	M	237	ENSP00000290429:V237M	ENSP00000290429:V237M	V	-	1	0	MCAT	41863051	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.277000	0.78572	2.387000	0.81309	0.591000	0.81541	GTG		0.532	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		T	43533107	C	T	43533107	3	4	625	1	0	0	0	0	1	0	0	0	9374	507	18	2	471	2	MCAT	22	43533107	Missense_Mutation	SNP	C	TCGA-DW-7841-01A-11D-2136-08	522281	43533107	7771459	54	34093											
FOXE3	2301	hgsc.bcm.edu	37	1	47882415	47882415	+	Missense_Mutation	SNP	A	A	C			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr1:47882415A>C	ENST00000335071.2	+	1	672	c.428A>C	c.(427-429)aAc>aCc	p.N143T		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	143					camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		GGCAAGGGCAACTACTGGACG	0.687																																																0													41	43	43					1																	47882415		2203	4299	6502	SO:0001583	missense	2301			AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"Forkhead boxes"	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.428A>C	chr1.hg19:g.47882415A>C	ENSP00000334472:p.Asn143Thr		Q5SVY9|Q9NQV9	Missense_Mutation	SNP	ENST00000335071.2	hg19	CCDS550.1	.	.	.	.	.	.	.	.	.	.	a	20.1	3.934136	0.73442	.	.	ENSG00000186790	ENST00000335071	D	0.95518	-3.73	3.45	3.45	0.39498	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.41097	U	0.000952	D	0.97467	0.9171	M	0.87328	2.875	0.54753	D	0.999982	D	0.71674	0.998	D	0.70487	0.969	D	0.97641	1.0148	10	0.62326	D	0.03	.	12.082	0.53675	1.0:0.0:0.0:0.0	.	143	Q13461	FOXE3_HUMAN	T	143	ENSP00000334472:N143T	ENSP00000334472:N143T	N	+	2	0	FOXE3	47655002	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	3.748000	0.55142	1.427000	0.47276	0.373000	0.22412	AAC		0.687	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021836.1	NM_012186		C	47882415	A	C	47882415	3	2	626	1	0	0	0	0	1	0	0	0	6006	43	2	5	430	5	FOXE3	1	47882415	Missense_Mutation	SNP	A	TCGA-DW-7842-01A-11D-2136-08		47882415	201368206	1	34094											
PEA15	8682	hgsc.bcm.edu	37	1	160181403	160181403	+	Silent	SNP	C	C	A			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr1:160181403C>A	ENST00000360472.4	+	2	257	c.69C>A	c.(67-69)ctC>ctA	p.L23L	RP11-536C5.7_ENST00000418602.1_RNA|PEA15_ENST00000368077.1_Silent_p.L23L|PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368076.1_Silent_p.L44L	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	23	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)				large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAGAACAGCTCAAGTCGGCCT	0.542																																																0													135	112	120					1																	160181403		2203	4300	6503	SO:0001819	synonymous_variant	8682			Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"Phosphoprotein enriched in astrocytes, 15kD", "homolog of mouse MAT-1 oncogene"	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.69C>A	chr1.hg19:g.160181403C>A			B1AKZ3|O00511	Silent	SNP	ENST00000360472.4	hg19	CCDS1199.1																																																																																				0.542	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768		A	160181403	C	A	160181403	2	1	626	1	0	0	0	0	0	0	0	1	11713	813	29	4		4	PEA15	1	160181403	Silent	SNP	C	TCGA-DW-7842-01A-11D-2136-08	112298988	160181403	89069218	2	34095											
PROM2	150696	hgsc.bcm.edu	37	2	95941238	95941238	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr2:95941238G>A	ENST00000317620.9	+	2	407	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	PROM2_ENST00000317668.4_Missense_Mutation_p.A92T|PROM2_ENST00000403131.2_Missense_Mutation_p.A92T|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Missense_Mutation_p.A92T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	92					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAATGAGCTGGCCTCCGTGAA	0.602																																																0													99	87	91					2																	95941238		2203	4300	6503	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.274G>A	chr2.hg19:g.95941238G>A	ENSP00000318270:p.Ala92Thr		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	hg19	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194115	0.38707	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.57	-4.2	0.03823	.	1.178410	0.06360	N	0.711489	T	0.34077	0.0885	L	0.44542	1.39	0.09310	N	1	P	0.43578	0.811	B	0.40602	0.334	T	0.37079	-0.9721	10	0.14252	T	0.57	-1.8729	15.0393	0.71777	0.0:0.0:0.1886:0.8114	.	92	Q8N271	PROM2_HUMAN	T	92	ENSP00000385716:A92T;ENSP00000318520:A92T;ENSP00000318270:A92T;ENSP00000442542:A92T	ENSP00000318270:A92T	A	+	1	0	PROM2	95304965	0.000000	0.05858	0.001000	0.08648	0.580000	0.36256	-2.235000	0.01202	-0.468000	0.06922	0.462000	0.41574	GCC		0.602	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		A	95941238	G	A	95941238	3	1	626	1	0	0	0	0	1	0	0	0	12561	1203	42	2	280	2	PROM2	2	95941238	Missense_Mutation	SNP	G	TCGA-DW-7842-01A-11D-2136-08		95941238	147258135	3	34096											
ATG16L1	55054	hgsc.bcm.edu	37	2	234173559	234173559	+	Silent	SNP	T	T	C			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr2:234173559T>C	ENST00000392017.4	+	5	668	c.411T>C	c.(409-411)acT>acC	p.T137T	ATG16L1_ENST00000392020.4_Silent_p.T137T|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392018.1_Silent_p.T137T|ATG16L1_ENST00000347464.5_Intron	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	137					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GTTTGCAGACTATCTCTGACC	0.527																																																0													109	97	101					2																	234173559		2203	4300	6503	SO:0001819	synonymous_variant	55054			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"WD repeat domain containing"	21498	protein-coding gene	gene with protein product		610767	"APG16 autophagy 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like 1 (S. cerevisiae)"	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.411T>C	chr2.hg19:g.234173559T>C			A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	hg19	CCDS2503.2																																																																																				0.527	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		C	234173559	T	C	234173559	2	2	626	1	0	0	0	0	0	0	0	1	1091	1509	53	3		3	ATG16L1	2	234173559	Silent	SNP	T	TCGA-DW-7842-01A-11D-2136-08	138232321	234173559	9025814	4	34097											
SCRN1	9805	hgsc.bcm.edu	37	7	29994945	29994945	+	Missense_Mutation	SNP	C	C	T	rs75604334	byFrequency	TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr7:29994945C>T	ENST00000426154.1	-	3	367	c.191G>A	c.(190-192)aGg>aAg	p.R64K	SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000434476.2_Missense_Mutation_p.R84K|SCRN1_ENST00000242059.5_Missense_Mutation_p.R64K|SCRN1_ENST00000416113.2_5'Flank|SCRN1_ENST00000425819.2_5'UTR|SCRN1_ENST00000409497.1_Missense_Mutation_p.R64K|SCRN1_ENST00000409570.1_Missense_Mutation_p.R64K	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	64					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GGCATAGGTCCTTGGAACTTG	0.488																																																0													109	105	107					7																	29994945		2203	4300	6503	SO:0001583	missense	9805			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.191G>A	chr7.hg19:g.29994945C>T	ENSP00000409068:p.Arg64Lys		A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	hg19	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	5.644	0.303441	0.10678	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000409497;ENST00000434476;ENST00000421434;ENST00000438497;ENST00000409570	T;T;T;T;T;T;T	0.28666	3.37;3.37;3.37;3.35;2.36;1.63;1.6	5.7	3.89	0.44902	.	0.133460	0.52532	N	0.000069	T	0.14184	0.0343	N	0.11789	0.175	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.09487	-1.0672	9	.	.	.	-20.2169	6.2825	0.21015	0.0:0.6834:0.0:0.3166	.	84;64	C9JPG0;Q12765	.;SCRN1_HUMAN	K	64;64;64;84;64;64;64	ENSP00000242059:R64K;ENSP00000409068:R64K;ENSP00000386872:R64K;ENSP00000388942:R84K;ENSP00000413184:R64K;ENSP00000406289:R64K;ENSP00000387052:R64K	.	R	-	2	0	SCRN1	29961470	1.000000	0.71417	0.996000	0.52242	0.879000	0.50718	1.824000	0.39072	1.426000	0.47256	0.557000	0.71058	AGG		0.488	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		T	29994945	C	T	29994945	3	4	626	1	0	0	0	0	1	0	0	0	13944	681	24	2	1077	2	SCRN1	7	29994945	Missense_Mutation	SNP	C	TCGA-DW-7842-01A-11D-2136-08		29994945	129143718	5	34098											
DOCK4	9732	hgsc.bcm.edu	37	7	111368503	111368503	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr7:111368503G>C	ENST00000437633.1	-	52	5984	c.5728C>G	c.(5728-5730)Ctg>Gtg	p.L1910V	DOCK4_ENST00000494651.2_Missense_Mutation_p.L793V|DOCK4_ENST00000428084.1_Missense_Mutation_p.L1919V	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1910	Pro-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGCGCCGCAGAGTCCGCTCG	0.726																																																0													22	29	27					7																	111368503		2060	4183	6243	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5728C>G	chr7.hg19:g.111368503G>C	ENSP00000404179:p.Leu1910Val		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	hg19	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.033027	0.35893	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	T;T;T	0.32023	1.47;1.47;1.47	5.59	3.43	0.39272	.	0.139401	0.49305	N	0.000144	T	0.15392	0.0371	N	0.19112	0.55	0.29489	N	0.855803	B;B;B;B;B;P	0.39181	0.0;0.045;0.046;0.001;0.036;0.663	B;B;B;B;B;B	0.33196	0.002;0.045;0.019;0.002;0.009;0.159	T	0.07635	-1.0762	10	0.34782	T	0.22	.	7.1126	0.25399	0.1735:0.1686:0.6579:0.0	.	779;793;1955;1910;1881;223	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4	.;.;.;DOCK4_HUMAN;.;.	V	1898;1919;793;1910;1869	ENSP00000410746:L1919V;ENSP00000440944:L793V;ENSP00000404179:L1910V	ENSP00000345432:L1869V	L	-	1	2	DOCK4	111155739	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.165000	0.31822	1.340000	0.45581	0.655000	0.94253	CTG		0.726	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		C	111368503	G	C	111368503	3	2	626	1	0	0	0	0	1	0	0	0	4691	933	33	4	176	4	DOCK4	7	111368503	Missense_Mutation	SNP	G	TCGA-DW-7842-01A-11D-2136-08	81373558	111368503	47770160	6	34099											
GALNT11	63917	hgsc.bcm.edu	37	7	151805279	151805279	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr7:151805279T>C	ENST00000434507.1	+	8	1306	c.869T>C	c.(868-870)gTc>gCc	p.V290A	GALNT11_ENST00000452146.2_Missense_Mutation_p.V209A|GALNT11_ENST00000320311.2_Missense_Mutation_p.V290A|GALNT11_ENST00000430044.2_Missense_Mutation_p.V290A|GALNT11_ENST00000422997.2_3'UTR			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	290					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TCCCCTGTCGTCCGCGGAGGG	0.602																																																0													70	69	69					7																	151805279		2203	4300	6503	SO:0001583	missense	63917			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.869T>C	chr7.hg19:g.151805279T>C	ENSP00000416787:p.Val290Ala		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	hg19	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690916	0.88735	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.59432	0.2193	N	0.13235	0.315	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.998	D;D;D	0.91635	0.934;0.999;0.971	T	0.58301	-0.7660	10	0.22109	T	0.4	.	15.2076	0.73192	0.0:0.0:0.0:1.0	.	209;290;290	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	A	290;209;290;290;290	ENSP00000395122:V290A;ENSP00000393399:V209A;ENSP00000416787:V290A;ENSP00000315835:V290A	ENSP00000315835:V290A	V	+	2	0	GALNT11	151436212	1.000000	0.71417	0.696000	0.30242	0.671000	0.39405	6.290000	0.72712	1.980000	0.57719	0.528000	0.53228	GTC		0.602	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		C	151805279	T	C	151805279	3	2	626	1	0	0	0	0	1	0	0	0	6211	1667	58	3	887	3	GALNT11	7	151805279	Missense_Mutation	SNP	T	TCGA-DW-7842-01A-11D-2136-08	40436776	151805279	7333384	7	34100											
MYOM2	9172	hgsc.bcm.edu	37	8	2063780	2063780	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr8:2063780C>T	ENST00000262113.4	+	26	3350	c.3209C>T	c.(3208-3210)aCt>aTt	p.T1070I	MYOM2_ENST00000523438.1_Missense_Mutation_p.T495I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1070					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GACAAAGCTACTGGCATTATT	0.383																																																0													180	173	175					8																	2063780		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3209C>T	chr8.hg19:g.2063780C>T	ENSP00000262113:p.Thr1070Ile		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	hg19	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106096	0.37145	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.43688	0.94;0.94	5.32	5.32	0.75619	.	0.155634	0.56097	D	0.000032	T	0.50292	0.1607	M	0.72118	2.19	0.09310	N	1	P	0.43542	0.81	P	0.47118	0.538	T	0.53627	-0.8412	10	0.72032	D	0.01	.	11.9689	0.53051	0.1347:0.7352:0.13:0.0	.	1070	P54296	MYOM2_HUMAN	I	1070;495	ENSP00000262113:T1070I;ENSP00000428396:T495I	ENSP00000262113:T1070I	T	+	2	0	MYOM2	2051187	0.950000	0.32346	0.017000	0.16124	0.264000	0.26372	3.170000	0.50816	2.495000	0.84180	0.655000	0.94253	ACT		0.383	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		T	2063780	C	T	2063780	3	4	626	1	0	0	0	0	1	0	0	0	10094	565	20	2	3307	2	MYOM2	8	2063780	Missense_Mutation	SNP	C	TCGA-DW-7842-01A-11D-2136-08		2063780	144300242	8	34101											
MTUS1	57509	hgsc.bcm.edu	37	8	17513393	17513393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr8:17513393G>T	ENST00000262102.6	-	9	3311	c.3087C>A	c.(3085-3087)taC>taA	p.Y1029*	MTUS1_ENST00000381861.3_Nonsense_Mutation_p.Y276*|MTUS1_ENST00000297488.6_Nonsense_Mutation_p.Y195*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Y975*|MTUS1_ENST00000381869.3_Nonsense_Mutation_p.Y975*|MTUS1_ENST00000544260.1_Nonsense_Mutation_p.Y174*|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000400046.1_Nonsense_Mutation_p.Y101*	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1029					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ATTGCATTTTGTACTTCTCTG	0.448																																																0													153	141	145					8																	17513393		1890	4122	6012	SO:0001587	stop_gained	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3087C>A	chr8.hg19:g.17513393G>T	ENSP00000262102:p.Tyr1029*		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Nonsense_Mutation	SNP	ENST00000262102.6	hg19	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	42	9.591954	0.99214	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	.	.	.	5.25	-7.98	0.01135	.	0.172675	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.084	17.0702	0.86571	0.2982:0.0:0.7018:0.0	.	.	.	.	X	975;174;101;195;276;1029;975	.	ENSP00000262102:Y1029X	Y	-	3	2	MTUS1	17557673	0.970000	0.33590	0.144000	0.22314	0.384000	0.30261	0.123000	0.15708	-1.650000	0.01506	-0.218000	0.12543	TAC		0.448	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		T	17513393	G	T	17513393	4	4	626	1	0	0	0	0	0	1	0	0	9967	1372	48	4	753	4	MTUS1	8	17513393	Nonsense_Mutation	SNP	G	TCGA-DW-7842-01A-11D-2136-08	15449613	17513393	128850629	9	34102											
KIAA1529	100499483	hgsc.bcm.edu	37	9	100117239	100117239	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr9:100117239A>G	ENST00000357054.1	+	35	4193	c.3258A>G	c.(3256-3258)atA>atG	p.I1086M	CCDC180_ENST00000375202.2_Missense_Mutation_p.I1115M|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.I1115M			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1086						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TTATTTTCATAGAGAAAATCC	0.418																																																0													74	75	75					9																	100117239		2203	4300	6503	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3258A>G	chr9.hg19:g.100117239A>G	ENSP00000349562:p.Ile1086Met		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	hg19		.	.	.	.	.	.	.	.	.	.	A	14.21	2.467293	0.43839	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.10099	3.17;2.91;2.91	5.16	-0.113	0.13568	.	0.642133	0.16850	N	0.196982	T	0.04952	0.0133	N	0.16478	0.41	0.80722	D	1	B;P	0.37370	0.083;0.592	B;B	0.35240	0.044;0.198	T	0.49707	-0.8911	10	0.27785	T	0.31	-2.8056	4.2902	0.10874	0.6091:0.0:0.2494:0.1415	.	1254;1086	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	M	1086;1115;1115	ENSP00000349562:I1086M;ENSP00000364348:I1115M;ENSP00000434727:I1115M	ENSP00000349562:I1086M	I	+	3	3	C9orf174	99157060	0.990000	0.36364	0.986000	0.45419	0.999000	0.98932	0.166000	0.16583	0.022000	0.15160	0.533000	0.62120	ATA		0.418	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		G	100117239	A	G	100117239	3	3	626	1	0	0	0	0	1	0	0	0	8242	410	15	3	3352	3	KIAA1529	9	100117239	Missense_Mutation	SNP	A	TCGA-DW-7842-01A-11D-2136-08		100117239	41096192	10	34103											
DNAJC25-GNG10	2790	hgsc.bcm.edu	37	9	114429094	114429094	+	Splice_Site	SNP	G	G	A			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr9:114429094G>A	ENST00000374293.4	+	2	381		c.e2-1		DNAJC25_ENST00000556107.1_Splice_Site|DNAJC25-GNG10_ENST00000374294.3_Splice_Site	NM_001017998.3|NM_001198664.1	NP_001017998.1|NP_001185593.1	P50151	GBG10_HUMAN	guanine nucleotide binding protein (G protein), gamma 10						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			kidney(1)	1						CTTTGTTTCAGGTCTCTCAGG	0.522																																																0													80	67	71					9																	114429094		2203	4300	6503	SO:0001630	splice_region_variant	552891				CCDS35107.1	9q31.3	2010-08-17			ENSG00000242616	ENSG00000242616			4402	protein-coding gene	gene with protein product		604389				7665596	Standard	NM_001017998		Approved			P50151	OTTHUMG00000157193	ENST00000374293.4:c.82-1G>A	chr9.hg19:g.114429094G>A			Q3B7K2|Q4VC27	Splice_Site	SNP	ENST00000374293.4	hg19	CCDS35107.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486423	0.84854	.	.	ENSG00000059769;ENSG00000244115;ENSG00000242616	ENST00000556107;ENST00000374294;ENST00000374293	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1488	0.93479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC25-GNG10;GNG10;DNAJC25	113468915	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	9.460000	0.97641	2.688000	0.91661	0.655000	0.94253	.		0.522	GNG10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053644.2		Intron	A	114429094	G	A	114429094	5	1	626	1	0	0	0	0	0	0	1	0	4646	1014	35	2	342	2	DNAJC25-GNG10	9	114429094	Splice_Site	SNP	G	TCGA-DW-7842-01A-11D-2136-08	14311855	114429094	26784337	11	34104											
ZER1	10444	hgsc.bcm.edu	37	9	131513498	131513498	+	Missense_Mutation	SNP	T	T	C			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr9:131513498T>C	ENST00000291900.2	-	7	1494	c.1088A>G	c.(1087-1089)tAc>tGc	p.Y363C	snoU13_ENST00000459043.1_RNA|ZER1_ENST00000494461.1_5'Flank	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	363					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GTGCTCCGTGTAGGCCTCGAT	0.602																																																0													93	76	82					9																	131513498		2203	4300	6503	SO:0001583	missense	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1088A>G	chr9.hg19:g.131513498T>C	ENSP00000291900:p.Tyr363Cys		O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	hg19	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.785754	0.70337	.	.	ENSG00000160445	ENST00000291900	T	0.07688	3.17	5.24	5.24	0.73138	Armadillo-type fold (1);	0.060055	0.64402	D	0.000002	T	0.22781	0.0550	L	0.51914	1.62	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.00425	-1.1747	10	0.44086	T	0.13	-35.0868	14.3759	0.66874	0.0:0.0:0.0:1.0	.	363	Q7Z7L7	ZER1_HUMAN	C	363	ENSP00000291900:Y363C	ENSP00000291900:Y363C	Y	-	2	0	ZER1	130553319	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.499000	0.81566	2.011000	0.59026	0.254000	0.18369	TAC		0.602	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		C	131513498	T	C	131513498	3	2	626	1	0	0	0	0	1	0	0	0	17630	1638	57	3	1252	3	ZER1	9	131513498	Missense_Mutation	SNP	T	TCGA-DW-7842-01A-11D-2136-08	17084404	131513498	9699933	12	34105											
VIM	7431	hgsc.bcm.edu	37	10	17276732	17276732	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr10:17276732C>G	ENST00000224237.5	+	5	1068	c.923C>G	c.(922-924)gCc>gGc	p.A308G	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.A308G			P08670	VIME_HUMAN	vimentin	308	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACAATGACGCCCTGCGCCAG	0.512																																																0													94	89	91					10																	17276732		2203	4300	6503	SO:0001583	missense	7431			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.923C>G	chr10.hg19:g.17276732C>G	ENSP00000224237:p.Ala308Gly		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	hg19	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627666	0.87560	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.89681	-2.55;-2.55;-2.55	6.05	6.05	0.98169	Filament (1);	0.000000	0.46442	D	0.000298	D	0.95439	0.8519	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.69078	0.989;0.985;0.995;0.997	P;P;D;D	0.69479	0.897;0.902;0.941;0.964	D	0.92981	0.6406	10	0.18710	T	0.47	.	20.6031	0.99464	0.0:1.0:0.0:0.0	.	295;295;308;308	F5H288;B3KRK8;B0YJC4;P08670	.;.;.;VIME_HUMAN	G	308;308;295;134	ENSP00000446007:A308G;ENSP00000224237:A308G;ENSP00000391842:A134G	ENSP00000224237:A308G	A	+	2	0	VIM	17316738	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	7.811000	0.86092	2.881000	0.98747	0.637000	0.83480	GCC		0.512	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		G	17276732	C	G	17276732	3	3	626	1	0	0	0	0	1	0	0	0	17171	739	26	4	941	4	VIM	10	17276732	Missense_Mutation	SNP	C	TCGA-DW-7842-01A-11D-2136-08		17276732	118258015	13	34106											
ARHGAP21	57584	hgsc.bcm.edu	37	10	24885703	24885704	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr10:24885703_24885704insG	ENST00000396432.2	-	17	3928_3929	c.3442_3443insC	c.(3442-3444)cgafs	p.R1148fs	ARHGAP21_ENST00000320481.6_Frame_Shift_Ins_p.R935fs|ARHGAP21_ENST00000493154.1_5'Flank	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1147	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTCATCTAGTCGGACGCCGAAA	0.455																																																0																																										SO:0001589	frameshift_variant	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3443dupC	chr10.hg19:g.24885705_24885705dupG	ENSP00000379709:p.Arg1148fs		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Ins	INS	ENST00000396432.2	hg19	CCDS7144.2																																																																																				0.455	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		G	24885704	-	G	24885703	7	5	626	1	0	1	1	0	0	0	0	0	871	884	31	0	2473	0	ARHGAP21	10	24885703	Frame_Shift_Ins	INS	-	TCGA-DW-7842-01A-11D-2136-08	7608971	24885703	110649044	14	34107											
PPA1	5464	hgsc.bcm.edu	37	10	71969322	71969322	+	Missense_Mutation	SNP	T	T	C	rs80155016		TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr10:71969322T>C	ENST00000373232.3	-	7	730	c.631A>G	c.(631-633)Aaa>Gaa	p.K211E		NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	211					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						ACCTTATCTTTAAATTCTGCA	0.348																																																0													98	94	95					10																	71969322		2203	4300	6503	SO:0001583	missense	5464			AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"cytosolic inorganic pyrophosphatase", "inorganic pyrophosphatase 1", "pyrophosphate phospho-hydrolase"	179030	"pyrophosphatase (inorganic)"	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.631A>G	chr10.hg19:g.71969322T>C	ENSP00000362329:p.Lys211Glu		Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Missense_Mutation	SNP	ENST00000373232.3	hg19	CCDS7299.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843400	0.91197	.	.	ENSG00000180817	ENST00000373232	T	0.44083	0.93	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	M	0.83312	2.635	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	T	0.71902	-0.4452	10	0.72032	D	0.01	-6.013	14.3548	0.66730	0.0:0.0:0.0:1.0	.	211	Q15181	IPYR_HUMAN	E	211	ENSP00000362329:K211E	ENSP00000362329:K211E	K	-	1	0	PPA1	71639328	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.796000	0.85898	2.078000	0.62432	0.460000	0.39030	AAA		0.348	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2	NM_021129		C	71969322	T	C	71969322	3	2	626	1	0	0	0	0	1	0	0	0	12288	1763	61	3	258	3	PPA1	10	71969322	Missense_Mutation	SNP	T	TCGA-DW-7842-01A-11D-2136-08	47083619	71969322	63565425	15	34108											
C11orf49	79096	hgsc.bcm.edu	37	11	47074069	47074069	+	Splice_Site	SNP	G	G	T			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr11:47074069G>T	ENST00000278460.7	+	3	339	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	C11orf49_ENST00000378618.2_Splice_Site_p.D94Y|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000395460.2_Splice_Site_p.D94Y|C11orf49_ENST00000378615.3_Splice_Site_p.D94Y|C11orf49_ENST00000543718.1_Intron	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	94						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CAAAAATGGCGGTAAGTCTTC	0.463																																																0													101	102	102					11																	47074069		2201	4299	6500	SO:0001630	splice_region_variant	79096			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.280+1G>T	chr11.hg19:g.47074069G>T			D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Missense_Mutation	SNP	ENST00000278460.7	hg19	CCDS7925.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879678	0.91740	.	.	ENSG00000149179	ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615;ENST00000526827	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	6.03	6.03	0.97812	.	0.097269	0.64402	D	0.000002	T	0.55289	0.1911	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.977;0.977	T	0.54351	-0.8307	10	0.87932	D	0	-17.2898	20.5568	0.99304	0.0:0.0:1.0:0.0	.	94;94;94	E9PAX7;Q9H6J7-2;Q9H6J7	.;.;CK049_HUMAN	Y	94;94;94;94;20	ENSP00000278460:D94Y;ENSP00000367881:D94Y;ENSP00000378844:D94Y;ENSP00000367878:D94Y;ENSP00000433707:D20Y	ENSP00000278460:D94Y	D	+	1	0	C11orf49	47030645	1.000000	0.71417	0.986000	0.45419	0.971000	0.66376	8.948000	0.93006	2.861000	0.98227	0.655000	0.94253	GAT		0.463	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113	Missense_Mutation	T	47074069	G	T	47074069	5	4	626	1	0	0	0	0	0	0	1	0	1647	1130	39	4	290	4	C11orf49	11	47074069	Splice_Site	SNP	G	TCGA-DW-7842-01A-11D-2136-08		47074069	87932447	16	34109											
ANKRD13D	338692	hgsc.bcm.edu	37	11	67059495	67059495	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr11:67059495A>G	ENST00000447274.2	+	6	1489	c.314A>G	c.(313-315)gAc>gGc	p.D105G	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.D192G|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.D105G|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.D105G			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	105						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTGGACCATGACCGGCAGGTG	0.672																																																0													36	38	37					11																	67059495		2200	4294	6494	SO:0001583	missense	338692			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"Ankyrin repeat domain containing"	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.314A>G	chr11.hg19:g.67059495A>G	ENSP00000402616:p.Asp105Gly		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	hg19		.	.	.	.	.	.	.	.	.	.	A	24.6	4.554741	0.86231	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	3.9	3.9	0.45041	.	0.074445	0.52532	D	0.000070	T	0.63462	0.2513	M	0.80183	2.485	0.58432	D	0.999999	D;P	0.89917	1.0;0.624	D;P	0.75484	0.986;0.525	T	0.66736	-0.5848	10	0.48119	T	0.1	-35.5096	12.1809	0.54211	1.0:0.0:0.0:0.0	.	192;105	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	G	105;192;105;105	ENSP00000402616:D105G;ENSP00000427130:D192G;ENSP00000310874:D105G;ENSP00000444404:D105G	ENSP00000310874:D105G	D	+	2	0	ANKRD13D	66816071	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.912000	0.92726	1.785000	0.52413	0.459000	0.35465	GAC		0.672	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		G	67059495	A	G	67059495	3	3	626	1	0	0	0	0	1	0	0	0	644	275	10	3	597	3	ANKRD13D	11	67059495	Missense_Mutation	SNP	A	TCGA-DW-7842-01A-11D-2136-08	19985426	67059495	67947021	17	34110											
ARHGEF17	9828	hgsc.bcm.edu	37	11	73020470	73020470	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr11:73020470G>A	ENST00000263674.3	+	1	1137	c.787G>A	c.(787-789)Gga>Aga	p.G263R	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	263					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCAGCTGCCTGGAGCCCAGAG	0.721																																																0													10	14	13					11																	73020470		2079	4096	6175	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.787G>A	chr11.hg19:g.73020470G>A	ENSP00000263674:p.Gly263Arg		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	hg19	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654144	0.29425	.	.	ENSG00000110237	ENST00000263674	T	0.64260	-0.09	4.85	0.091	0.14466	.	0.445825	0.16707	N	0.202865	T	0.43656	0.1257	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39251	-0.9623	10	0.87932	D	0	-19.5376	8.2312	0.31599	0.1586:0.385:0.4564:0.0	.	263	Q96PE2	ARHGH_HUMAN	R	263	ENSP00000263674:G263R	ENSP00000263674:G263R	G	+	1	0	ARHGEF17	72698118	0.001000	0.12720	0.001000	0.08648	0.237000	0.25408	0.062000	0.14389	0.096000	0.17463	-0.502000	0.04539	GGA		0.721	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		A	73020470	G	A	73020470	3	1	626	1	0	0	0	0	1	0	0	0	900	1349	47	2	789	2	ARHGEF17	11	73020470	Missense_Mutation	SNP	G	TCGA-DW-7842-01A-11D-2136-08	5960975	73020470	61986046	18	34111											
MED17	9440	hgsc.bcm.edu	37	11	93542943	93542943	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr11:93542943C>A	ENST00000251871.3	+	11	1932	c.1645C>A	c.(1645-1647)Ctg>Atg	p.L549M	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	549					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGGCAAGTACTGAGCTTCAG	0.493																																																0													233	193	206					11																	93542943		2201	4298	6499	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1645C>A	chr11.hg19:g.93542943C>A	ENSP00000251871:p.Leu549Met		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	hg19	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067027	0.93898	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.64991	-0.13	5.65	5.65	0.86999	.	0.063209	0.64402	D	0.000003	T	0.79040	0.4379	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.79424	-0.1809	10	0.72032	D	0.01	-15.3186	20.0822	0.97779	0.0:1.0:0.0:0.0	.	549	Q9NVC6	MED17_HUMAN	M	549;519	ENSP00000251871:L549M	ENSP00000251871:L549M	L	+	1	2	MED17	93182591	1.000000	0.71417	0.719000	0.30619	0.979000	0.70002	4.846000	0.62860	2.826000	0.97356	0.563000	0.77884	CTG		0.493	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		A	93542943	C	A	93542943	3	1	626	1	0	0	0	0	1	0	0	0	9437	564	20	4	1687	4	MED17	11	93542943	Missense_Mutation	SNP	C	TCGA-DW-7842-01A-11D-2136-08	20522473	93542943	41463573	19	34112											
VPS26B	112936	hgsc.bcm.edu	37	11	134115448	134115448	+	Silent	SNP	C	C	T			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr11:134115448C>T	ENST00000281187.5	+	6	1453	c.975C>T	c.(973-975)acC>acT	p.T325T	VPS26B_ENST00000525095.2_Silent_p.T325T	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	325					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		AGGTGCGGACCCCCAGCCAGC	0.652																																					Colon(171;1263 1952 15904 45703 47982)											0													44	37	39					11																	134115448		2201	4297	6498	SO:0001819	synonymous_variant	112936				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.975C>T	chr11.hg19:g.134115448C>T			Q96A55	Silent	SNP	ENST00000281187.5	hg19	CCDS8495.1																																																																																				0.652	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		T	134115448	C	T	134115448	2	4	626	1	0	0	0	0	0	0	0	1	17203	610	22	2		2	VPS26B	11	134115448	Silent	SNP	C	TCGA-DW-7842-01A-11D-2136-08	40572505	134115448	891068	20	34113											
PTGDR	5729	hgsc.bcm.edu	37	14	52734893	52734894	+	Missense_Mutation	DNP	CT	CT	AG			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr14:52734893_52734894CT>AG	ENST00000306051.2	+	1	463_464	c.361_362CT>AG	c.(361-363)CTg>AGg	p.L121R	PTGDR_ENST00000553372.1_Missense_Mutation_p.L121R	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	121					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CTCCTCGACACTGCAACTCCTG	0.629																																																0																																										SO:0001583	missense	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	Exception_encountered	chr14.hg19:g.52734893_52734894delinsAG	ENSP00000303424:p.Leu121Arg		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	hg19	CCDS9707.1																																																																																				0.629	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		AG	52734894	CT	AG	52734893	3	1	626	1	0	0	0	0	1	0	0	0	12746	564	20	4	363	4	PTGDR	14	52734893	Missense_Mutation	DNP	CT	TCGA-DW-7842-01A-11D-2136-08		52734893	54614647	21	34114											
PLA2G4F	255189	hgsc.bcm.edu	37	15	42442584	42442584	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr15:42442584A>G	ENST00000382396.4	-	9	958	c.872T>C	c.(871-873)gTg>gCg	p.V291A	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.V291A			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	291					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCCCAGGGCCACAGAACACTG	0.652																																																0													22	23	22					15																	42442584		2203	4299	6502	SO:0001583	missense	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.872T>C	chr15.hg19:g.42442584A>G	ENSP00000371833:p.Val291Ala		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	hg19	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632244	0.29068	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.01560	4.77;4.82	4.88	4.88	0.63580	Lysophospholipase, catalytic domain (1);	0.320592	0.21644	N	0.071298	T	0.02848	0.0085	M	0.64404	1.975	0.31744	N	0.635362	P;P	0.46395	0.877;0.877	B;B	0.38106	0.265;0.197	T	0.12142	-1.0559	10	0.72032	D	0.01	-9.9511	11.1909	0.48685	1.0:0.0:0.0:0.0	.	78;291	A2RRC4;Q68DD2	.;PA24F_HUMAN	A	287;291;291;291;291	ENSP00000380442:V291A;ENSP00000371833:V291A	ENSP00000290497:V287A	V	-	2	0	PLA2G4F	40229876	0.055000	0.20627	0.840000	0.33206	0.044000	0.14063	4.335000	0.59298	1.982000	0.57802	0.533000	0.62120	GTG		0.652	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		G	42442584	A	G	42442584	3	3	626	1	0	0	0	0	1	0	0	0	12008	159	6	3	1725	3	PLA2G4F	15	42442584	Missense_Mutation	SNP	A	TCGA-DW-7842-01A-11D-2136-08		42442584	60088808	22	34115											
C15orf42	90381	hgsc.bcm.edu	37	15	90129030	90129030	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr15:90129030G>A	ENST00000268138.7	+	4	1373	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	TICRR_ENST00000560985.1_Missense_Mutation_p.R422H|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	423					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										ACTGTGTGCCGCACCAAGGAG	0.542																																																0													86	88	87					15																	90129030		1978	4151	6129	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1268G>A	chr15.hg19:g.90129030G>A	ENSP00000268138:p.Arg423His		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	hg19	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	g	3.132	-0.178303	0.06380	.	.	ENSG00000140534	ENST00000268138	T	0.13901	2.55	5.24	-2.38	0.06622	.	0.846013	0.11198	N	0.589141	T	0.08447	0.0210	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.28964	-1.0027	10	0.46703	T	0.11	0.7395	7.3452	0.26660	0.4494:0.1087:0.4419:0.0	.	423	Q7Z2Z1	TICRR_HUMAN	H	423	ENSP00000268138:R423H	ENSP00000268138:R423H	R	+	2	0	C15orf42	87930034	0.000000	0.05858	0.005000	0.12908	0.010000	0.07245	-0.060000	0.11712	-0.695000	0.05105	-0.150000	0.13652	CGC		0.542	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		A	90129030	G	A	90129030	3	1	626	1	0	0	0	0	1	0	0	0	1798	1087	38	1	1282	1	C15orf42	15	90129030	Missense_Mutation	SNP	G	TCGA-DW-7842-01A-11D-2136-08	47686446	90129030	12402362	23	34116											
DSG4	147409	hgsc.bcm.edu	37	18	28980927	28980927	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr18:28980927A>T	ENST00000308128.4	+	10	1496	c.1361A>T	c.(1360-1362)aAg>aTg	p.K454M	DSG4_ENST00000359747.4_Missense_Mutation_p.K454M|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAATTTGATAAGAAGTCAAAA	0.289																																																0													43	48	47					18																	28980927		2199	4283	6482	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1361A>T	chr18.hg19:g.28980927A>T	ENSP00000311859:p.Lys454Met		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	hg19	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.710083	0.30322	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.52754	0.65;0.65	5.24	-7.62	0.01294	Cadherin (4);Cadherin-like (1);	1.092760	0.07279	N	0.870439	T	0.14657	0.0354	N	0.01188	-0.97	0.21740	N	0.999565	B;B	0.18013	0.025;0.003	B;B	0.19666	0.025;0.026	T	0.23226	-1.0194	10	0.62326	D	0.03	.	2.8038	0.05422	0.1395:0.4432:0.1978:0.2195	.	454;454	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	M	454	ENSP00000311859:K454M;ENSP00000352785:K454M	ENSP00000311859:K454M	K	+	2	0	DSG4	27234925	0.528000	0.26314	0.657000	0.29651	0.818000	0.46254	0.238000	0.18004	-1.023000	0.03342	-2.955000	0.00083	AAG		0.289	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		T	28980927	A	T	28980927	3	4	626	1	0	0	0	0	1	0	0	0	4781	72	3	5	1399	5	DSG4	18	28980927	Missense_Mutation	SNP	A	TCGA-DW-7842-01A-11D-2136-08		28980927	49096321	24	34117											
WDR18	57418	hgsc.bcm.edu	37	19	992048	992048	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr19:992048A>G	ENST00000251289.5	+	8	1048	c.1025A>G	c.(1024-1026)cAc>cGc	p.H342R	WDR18_ENST00000587001.2_Missense_Mutation_p.H342R	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	342					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCAACAAGCACCTGCTGGGC	0.716																																																0													9	10	9					19																	992048		2129	4155	6284	SO:0001583	missense	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.1025A>G	chr19.hg19:g.992048A>G	ENSP00000251289:p.His342Arg		O60390|Q9BWR2	Missense_Mutation	SNP	ENST00000251289.5	hg19	CCDS12051.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692269	0.30052	.	.	ENSG00000065268	ENST00000251289	T	0.69435	-0.4	4.28	4.28	0.50868	.	0.056115	0.64402	D	0.000001	T	0.60843	0.2300	M	0.63843	1.955	0.44798	D	0.997803	P	0.50272	0.933	B	0.44108	0.441	T	0.62020	-0.6942	10	0.06757	T	0.87	.	12.3826	0.55315	1.0:0.0:0.0:0.0	.	342	Q9BV38	WDR18_HUMAN	R	342	ENSP00000251289:H342R	ENSP00000251289:H342R	H	+	2	0	WDR18	943048	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	5.202000	0.65169	1.806000	0.52798	0.402000	0.26972	CAC		0.716	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			G	992048	A	G	992048	3	3	626	1	0	0	0	0	1	0	0	0	17283	159	6	3	1055	3	WDR18	19	992048	Missense_Mutation	SNP	A	TCGA-DW-7842-01A-11D-2136-08		992048	58136935	25	34118											
NLRP5	126206	hgsc.bcm.edu	37	19	56511120	56511120	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr19:56511120G>A	ENST00000390649.3	+	1	29	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	10					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		cttgaacttggagctgcTGCT	0.517																																																0													208	212	210					19																	56511120		2101	4218	6319	SO:0001583	missense	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.29G>A	chr19.hg19:g.56511120G>A	ENSP00000375063:p.Gly10Glu		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	hg19	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	7.564	0.665223	0.14710	.	.	ENSG00000171487	ENST00000390649	T	0.74106	-0.81	0.492	0.492	0.16872	.	.	.	.	.	T	0.68860	0.3047	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.59215	-0.7496	8	0.87932	D	0	.	.	.	.	.	10	P59047	NALP5_HUMAN	E	10	ENSP00000375063:G10E	ENSP00000375063:G10E	G	+	2	0	NLRP5	61202932	0.005000	0.15991	0.037000	0.18230	0.032000	0.12392	-0.354000	0.07681	0.528000	0.28580	0.298000	0.19748	GGA		0.517	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56511120	G	A	56511120	3	1	626	1	0	0	0	0	1	0	0	0	10482	1174	41	2	31	2	NLRP5	19	56511120	Missense_Mutation	SNP	G	TCGA-DW-7842-01A-11D-2136-08	55519072	56511120	2617863	26	34119											
SLC19A1	6573	hgsc.bcm.edu	37	21	46935688	46935688	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7842-01A-11D-2136-08	TCGA-DW-7842-10A-01D-2136-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fe91ee01-61e4-4310-b1e9-387033d215a6	bbdb56a6-a63a-419c-91dc-54bd9502aa64	g.chr21:46935688A>G	ENST00000311124.4	-	6	1812	c.1660T>C	c.(1660-1662)Tca>Cca	p.S554P	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000380010.4_Intron|SLC19A1_ENST00000468508.1_5'Flank|SLC19A1_ENST00000485649.2_Missense_Mutation_p.S514P	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	554					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	TCAGGGCCTGAGGCTTGGGCG	0.637																																																0													44	44	44					21																	46935688		2203	4300	6503	SO:0001583	missense	6573			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1660T>C	chr21.hg19:g.46935688A>G	ENSP00000308895:p.Ser554Pro		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	hg19	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.430071	0.43122	.	.	ENSG00000173638	ENST00000311124;ENST00000485649	D;D	0.84944	-1.91;-1.92	2.86	-2.08	0.07254	.	.	.	.	.	T	0.64713	0.2623	N	0.19112	0.55	0.09310	N	1	P;P	0.42078	0.77;0.77	B;B	0.32090	0.14;0.14	T	0.59700	-0.7405	9	0.87932	D	0	.	0.6492	0.00823	0.4614:0.2055:0.1326:0.2004	.	514;554	B7Z8C3;P41440	.;S19A1_HUMAN	P	554;514	ENSP00000308895:S554P;ENSP00000441772:S514P	ENSP00000308895:S554P	S	-	1	0	SLC19A1	45760116	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	-0.670000	0.05256	-0.524000	0.06400	-0.456000	0.05471	TCA		0.637	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			G	46935688	A	G	46935688	3	3	626	1	0	0	0	0	1	0	0	0	14434	304	11	3	119	3	SLC19A1	21	46935688	Missense_Mutation	SNP	A	TCGA-DW-7842-01A-11D-2136-08		46935688	1194207	27	34120											
TMEM52	339456	hgsc.bcm.edu	37	1	1850654	1850654	+	Silent	SNP	G	G	C			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr1:1850654G>C	ENST00000310991.3	-	1	58	c.51C>G	c.(49-51)ctC>ctG	p.L17L	TMEM52_ENST00000378602.3_5'Flank	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	17						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ggagcggcaggagcggcagca	0.771																																																0													1	2	1					1																	1850654		671	1684	2355	SO:0001819	synonymous_variant	339456			AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.51C>G	chr1.hg19:g.1850654G>C			Q4VXS6|Q6UX25	Silent	SNP	ENST00000310991.3	hg19	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	4.530	0.098402	0.08681	.	.	ENSG00000178821	ENST00000378598	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.39489	0.1080	.	.	.	0.22446	N	0.999091	.	.	.	.	.	.	T	0.39035	-0.9633	4	0.87932	D	0	.	.	.	.	.	.	.	.	C	15	.	ENSP00000367861:S15C	S	-	2	0	TMEM52	1840514	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	0.286000	0.18902	0.192000	0.20272	0.195000	0.17529	TCC		0.771	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		C	1850654	G	C	1850654	2	2	627	1	0	0	0	0	0	0	0	1	16183	1161	41	4		4	TMEM52	1	1850654	Silent	SNP	G	TCGA-DW-7963-01B-11D-A28G-10		1850654	247399967	1	34121											
KIAA2013	90231	hgsc.bcm.edu	37	1	11986231	11986231	+	Missense_Mutation	SNP	G	G	A	rs552116013	byFrequency	TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr1:11986231G>A	ENST00000376572.3	-	1	249	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F	KIAA2013_ENST00000376576.3_Missense_Mutation_p.L22F	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	22						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCAGAGGAGGCGGCGGGCC	0.771													G|||	26	0.00519169	0.0166	0.0043	5008	,	,		4617	0.0		0.001	False		,,,				2504	0.0															0													1	1	1					1																	11986231		852	2025	2877	SO:0001583	missense	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.64C>T	chr1.hg19:g.11986231G>A	ENSP00000365756:p.Leu22Phe		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	hg19	CCDS141.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691701	0.68271	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	2.55	1.47	0.22746	.	0.221922	0.29040	U	0.013323	T	0.31638	0.0803	N	0.14661	0.345	0.29766	N	0.835158	D;P	0.61080	0.989;0.954	P;P	0.59487	0.858;0.812	T	0.08659	-1.0711	9	0.46703	T	0.11	-19.9466	7.5843	0.27982	0.0:0.4455:0.5544:0.0	.	22;22	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	F	22	.	ENSP00000365756:L22F	L	-	1	0	KIAA2013	11908818	0.998000	0.40836	0.999000	0.59377	0.991000	0.79684	0.719000	0.25881	1.409000	0.46915	0.563000	0.77884	CTC		0.771	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		A	11986231	G	A	11986231	3	1	627	1	0	0	0	0	1	0	0	0	8269	1000	35	2	1852	2	KIAA2013	1	11986231	Missense_Mutation	SNP	G	TCGA-DW-7963-01B-11D-A28G-10	10135577	11986231	237264390	2	34122											
UBXN11	91544	hgsc.bcm.edu	37	1	26608865	26608865	+	Silent	SNP	A	A	G			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr1:26608865A>G	ENST00000374222.1	-	16	1952	c.1488T>C	c.(1486-1488)ggT>ggC	p.G496G	UBXN11_ENST00000374223.1_Silent_p.G253G|UBXN11_ENST00000314675.7_Silent_p.G376G|UBXN11_ENST00000357089.4_Silent_p.G463G|UBXN11_ENST00000374221.3_Silent_p.G496G|UBXN11_ENST00000374217.2_Silent_p.G463G			Q5T124	UBX11_HUMAN	UBX domain protein 11	496	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						cgggaccgggaccgggactgg	0.721																																																1	Deletion - In frame(1)	ovary(1)											25	29	28					1																	26608865		1768	4016	5784	SO:0001819	synonymous_variant	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1488T>C	chr1.hg19:g.26608865A>G			D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	hg19	CCDS41288.1																																																																																				0.721	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		G	26608865	A	G	26608865	2	3	627	1	0	0	0	0	0	0	0	1	16918	262	10	3		3	UBXN11	1	26608865	Silent	SNP	A	TCGA-DW-7963-01B-11D-A28G-10	14622634	26608865	222641756	3	34123											
ECHDC2	55268	hgsc.bcm.edu	37	1	53362195	53362195	+	Silent	SNP	T	T	C			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr1:53362195T>C	ENST00000371522.4	-	10	969	c.876A>G	c.(874-876)aaA>aaG	p.K292K	ECHDC2_ENST00000536120.1_Silent_p.K246K|ECHDC2_ENST00000358358.5_Silent_p.K261K	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	292					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						ATGGGGGTCATTTGCCAACAA	0.488																																																0													71	73	72					1																	53362195		2203	4300	6503	SO:0001819	synonymous_variant	55268			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.876A>G	chr1.hg19:g.53362195T>C			D3DQ36|Q9NV38	Silent	SNP	ENST00000371522.4	hg19	CCDS55600.1																																																																																				0.488	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		C	53362195	T	C	53362195	2	2	627	1	0	0	0	0	0	0	0	1	4896	1490	52	3		3	ECHDC2	1	53362195	Silent	SNP	T	TCGA-DW-7963-01B-11D-A28G-10	26753330	53362195	195888426	4	34124											
USH2A	7399	hgsc.bcm.edu	37	1	216262462	216262462	+	Missense_Mutation	SNP	G	G	T			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr1:216262462G>T	ENST00000307340.3	-	23	5164	c.4778C>A	c.(4777-4779)aCt>aAt	p.T1593N	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.T1593N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1593	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTAGTTGTAGTTACTTCCAC	0.333										HNSCC(13;0.011)																																						0													184	168	173					1																	216262462		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4778C>A	chr1.hg19:g.216262462G>T	ENSP00000305941:p.Thr1593Asn		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336688	0.60963	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.80304	-1.36;-1.36	5.8	4.88	0.63580	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.45361	D	0.000370	D	0.87006	0.6070	M	0.73962	2.25	0.38859	D	0.95643	D	0.61080	0.989	P	0.58780	0.845	D	0.87966	0.2733	10	0.41790	T	0.15	.	15.1749	0.72903	0.0:0.2669:0.7331:0.0	.	1593	O75445	USH2A_HUMAN	N	1593	ENSP00000305941:T1593N;ENSP00000355910:T1593N	ENSP00000305941:T1593N	T	-	2	0	USH2A	214329085	1.000000	0.71417	0.699000	0.30290	0.787000	0.44495	5.826000	0.69293	1.417000	0.47077	0.655000	0.94253	ACT		0.333	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		T	216262462	G	T	216262462	3	4	627	1	0	0	0	0	1	0	0	0	17041	1029	36	4	11030	4	USH2A	1	216262462	Missense_Mutation	SNP	G	TCGA-DW-7963-01B-11D-A28G-10	162900267	216262462	32988159	5	34125											
RYR2	6262	hgsc.bcm.edu	37	1	237730023	237730023	+	Missense_Mutation	SNP	C	C	G			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr1:237730023C>G	ENST00000366574.2	+	28	3688	c.3371C>G	c.(3370-3372)cCg>cGg	p.P1124R	RYR2_ENST00000542537.1_Missense_Mutation_p.P1108R|RYR2_ENST00000360064.6_Missense_Mutation_p.P1122R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1124	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTTGTCAACCGGATCAGGAG	0.532																																																0													218	216	217					1																	237730023		2066	4209	6275	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3371C>G	chr1.hg19:g.237730023C>G	ENSP00000355533:p.Pro1124Arg		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966699	0.74131	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.55588	0.51;0.51;0.51	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000008	T	0.72558	0.3475	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.75814	-0.3185	10	0.87932	D	0	.	18.9442	0.92615	0.0:1.0:0.0:0.0	.	1124	Q92736	RYR2_HUMAN	R	1124;1122;1108	ENSP00000355533:P1124R;ENSP00000353174:P1122R;ENSP00000443798:P1108R	ENSP00000353174:P1122R	P	+	2	0	RYR2	235796646	1.000000	0.71417	0.114000	0.21550	0.563000	0.35712	7.814000	0.86154	2.465000	0.83290	0.655000	0.94253	CCG		0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		G	237730023	C	G	237730023	3	3	627	1	0	0	0	0	1	0	0	0	13775	652	23	4	3481	4	RYR2	1	237730023	Missense_Mutation	SNP	C	TCGA-DW-7963-01B-11D-A28G-10	21467561	237730023	11520598	6	34126											
OXER1	165140	hgsc.bcm.edu	37	2	42990999	42990999	+	Silent	SNP	C	C	A			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr2:42990999C>A	ENST00000378661.2	-	1	402	c.321G>T	c.(319-321)ctG>ctT	p.L107L		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	107					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						TGTTCCCCACCAGGCCCAGGA	0.647																																																0													43	47	45					2																	42990999		2203	4300	6503	SO:0001819	synonymous_variant	165140			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.321G>T	chr2.hg19:g.42990999C>A			Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	hg19	CCDS1810.1																																																																																				0.647	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		A	42990999	C	A	42990999	2	1	627	1	0	0	0	0	0	0	0	1	11333	581	21	4		4	OXER1	2	42990999	Silent	SNP	C	TCGA-DW-7963-01B-11D-A28G-10		42990999	200208374	7	34127											
OSBPL11	114885	hgsc.bcm.edu	37	3	125298795	125298795	+	Missense_Mutation	SNP	A	A	T			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr3:125298795A>T	ENST00000296220.5	-	3	612	c.323T>A	c.(322-324)cTt>cAt	p.L108H		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	108	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						AGCTCCTGCAAGCTGCAAAGT	0.403																																																0													118	121	120					3																	125298795		2203	4300	6503	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.323T>A	chr3.hg19:g.125298795A>T	ENSP00000296220:p.Leu108His		A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	hg19	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595561	0.86953	.	.	ENSG00000144909	ENST00000296220	D	0.84223	-1.82	5.07	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.071226	0.56097	D	0.000021	D	0.94739	0.8302	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96314	0.9231	10	0.87932	D	0	0.5235	14.9917	0.71393	1.0:0.0:0.0:0.0	.	108	Q9BXB4	OSB11_HUMAN	H	108	ENSP00000296220:L108H	ENSP00000296220:L108H	L	-	2	0	OSBPL11	126781485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.073000	0.93992	2.124000	0.65301	0.533000	0.62120	CTT		0.403	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		T	125298795	A	T	125298795	3	4	627	1	0	0	0	0	1	0	0	0	11278	72	3	5	1964	5	OSBPL11	3	125298795	Missense_Mutation	SNP	A	TCGA-DW-7963-01B-11D-A28G-10		125298795	72723635	8	34128											
NPHP3	27031	hgsc.bcm.edu	37	3	132418235	132418235	+	Silent	SNP	A	A	T			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr3:132418235A>T	ENST00000337331.5	-	13	2033	c.1947T>A	c.(1945-1947)atT>atA	p.I649I	NPHP3_ENST00000326682.8_Silent_p.I649I	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	649					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCACAGAAACAATTACTCTTA	0.328																																																0													122	107	112					3																	132418235		2203	4300	6503	SO:0001819	synonymous_variant	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1947T>A	chr3.hg19:g.132418235A>T			Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	hg19	CCDS3078.1																																																																																				0.328	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		T	132418235	A	T	132418235	2	4	627	1	0	0	0	0	0	0	0	1	10582	126	5	5		5	NPHP3	3	132418235	Silent	SNP	A	TCGA-DW-7963-01B-11D-A28G-10	7119440	132418235	65604195	9	34129											
F12	2161	hgsc.bcm.edu	37	5	176833055	176833058	+	Frame_Shift_Del	DEL	AGTG	AGTG	-	rs149368999	byFrequency	TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	AGTG	AGTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr5:176833055_176833058delAGTG	ENST00000253496.3	-	3	168_171	c.120_123delCACT	c.(118-123)ctcactfs	p.LT40fs	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	40					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	CCCCGGTGACAGTGAGAACTGCAG	0.588									Hereditary Angioedema																																							0																																										SO:0001589	frameshift_variant	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.120_123delCACT	chr5.hg19:g.176833055_176833058delAGTG	ENSP00000253496:p.Leu40fs		P78339	Frame_Shift_Del	DEL	ENST00000253496.3	hg19	CCDS34302.1																																																																																				0.588	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			-	176833058	AGTG	-	176833055	7	5	627	1	0	1	0	1	0	0	0	0	5341	175	7	0	1772	0	F12	5	176833055	Frame_Shift_Del	DEL	AGTG	TCGA-DW-7963-01B-11D-A28G-10		176833055	4082205	10	34130											
SLC22A3	6581	hgsc.bcm.edu	37	6	160769796	160769796	+	Silent	SNP	C	C	T			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr6:160769796C>T	ENST00000275300.2	+	1	497	c.345C>T	c.(343-345)gcC>gcT	p.A115A	SLC22A3_ENST00000392145.1_Silent_p.A115A	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	115					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	ACCCACTCGCCGCCTTCCCCA	0.756																																																0													3	3	3					6																	160769796		1659	3388	5047	SO:0001819	synonymous_variant	6581			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.345C>T	chr6.hg19:g.160769796C>T			Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	hg19	CCDS5277.1																																																																																				0.756	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		T	160769796	C	T	160769796	2	4	627	1	0	0	0	0	0	0	0	1	14461	639	23	1		1	SLC22A3	6	160769796	Silent	SNP	C	TCGA-DW-7963-01B-11D-A28G-10		160769796	10345271	11	34131											
TBP	6908	hgsc.bcm.edu	37	6	170871004	170871004	+	Silent	SNP	G	G	A			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000540980.1_Silent_p.Q40Q|TBP_ENST00000230354.6_Silent_p.Q60Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		Ggcagcagcagcaacaacaac	0.542																																																0													43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	chr6.hg19:g.170871004G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	hg19	CCDS5315.1																																																																																				0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871004	G	A	170871004	2	1	627	1	0	0	0	0	0	0	0	1	15649	962	34	2		2	TBP	6	170871004	Silent	SNP	G	TCGA-DW-7963-01B-11D-A28G-10	10101208	170871004	244063	12	34132											
TNRC18	84629	hgsc.bcm.edu	37	7	5352626	5352626	+	Silent	SNP	A	A	T	rs180704395		TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr7:5352626A>T	ENST00000430969.1	-	27	8244	c.7896T>A	c.(7894-7896)tcT>tcA	p.S2632S	TNRC18_ENST00000399537.4_Silent_p.S2632S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2632	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aggaggaggaagaggaggatg	0.627																																																0													6	7	7					7																	5352626		1437	3278	4715	SO:0001819	synonymous_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7896T>A	chr7.hg19:g.5352626A>T			A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	hg19	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	N	0.241	-1.013754	0.02095	.	.	ENSG00000182095	ENST00000399544	.	.	.	4.15	0.579	0.17397	.	0.267986	0.19999	N	0.101365	T	0.62829	0.2460	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61426	-0.7065	6	0.87932	D	0	.	8.5864	0.33660	0.458:0.0:0.542:0.0	.	.	.	.	H	1145	.	ENSP00000382459:L1145H	L	-	2	0	TNRC18	5319152	0.991000	0.36638	0.765000	0.31456	0.005000	0.04900	0.298000	0.19120	-0.159000	0.11021	-1.232000	0.01568	CTT		0.627	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				T	5352626	A	T	5352626	2	4	627	1	0	0	0	0	0	0	0	1	16344	59	3	5		5	TNRC18	7	5352626	Silent	SNP	A	TCGA-DW-7963-01B-11D-A28G-10		5352626	153786037	13	34133											
TAF6	6878	hgsc.bcm.edu	37	7	99707631	99707631	+	Silent	SNP	G	G	A	rs148894017		TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr7:99707631G>A	ENST00000344095.4	-	12	1749	c.1224C>T	c.(1222-1224)gaC>gaT	p.D408D	TAF6_ENST00000452041.1_Silent_p.D408D|TAF6_ENST00000453269.2_Silent_p.D408D|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Silent_p.D332D|TAF6_ENST00000437822.2_Silent_p.D445D|TAF6_ENST00000472509.1_Silent_p.D465D	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	408					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACAGGGCCGTCCAGCACAC	0.587																																																0								G	,,	0,4406		0,0,2203	110	97	101		1335,1224,1224	-6.5	0.9	7	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TAF6	NM_001190415.1,NM_005641.3,NM_139315.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	445/715,408/678,408/678	99707631	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6878				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1224C>T	chr7.hg19:g.99707631G>A			A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	hg19	CCDS5686.1																																																																																				0.587	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		A	99707631	G	A	99707631	2	1	627	1	0	0	0	0	0	0	0	1	15535	1136	40	1		1	TAF6	7	99707631	Silent	SNP	G	TCGA-DW-7963-01B-11D-A28G-10	94355005	99707631	59431032	14	34134											
AKNA	80709	hgsc.bcm.edu	37	9	117143567	117143567	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr9:117143567C>A	ENST00000307564.4	-	2	208	c.47G>T	c.(46-48)gGg>gTg	p.G16V	AKNA_ENST00000312033.3_Missense_Mutation_p.G16V|AKNA_ENST00000374088.3_Missense_Mutation_p.G16V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	16					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGGCCCTTCCCCAGGCCAGG	0.622																																																0													35	28	31					9																	117143567		2201	4299	6500	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.47G>T	chr9.hg19:g.117143567C>A	ENSP00000303769:p.Gly16Val		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	hg19	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167000	0.38217	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000312033;ENST00000394574	T;T;T	0.58940	1.58;1.58;0.3	3.83	3.83	0.44106	.	0.000000	0.43919	D	0.000520	T	0.64023	0.2561	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66614	-0.5879	10	0.87932	D	0	-30.4003	11.5452	0.50690	0.0:1.0:0.0:0.0	.	16;16	Q7Z591-6;Q7Z591	.;AKNA_HUMAN	V	16	ENSP00000303769:G16V;ENSP00000363201:G16V;ENSP00000309222:G16V	ENSP00000303769:G16V	G	-	2	0	AKNA	116183388	0.873000	0.30073	0.977000	0.42913	0.053000	0.15095	1.457000	0.35212	2.460000	0.83146	0.561000	0.74099	GGG		0.622	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		A	117143567	C	A	117143567	3	1	627	1	0	0	0	0	1	0	0	0	463	623	22	4	4356	4	AKNA	9	117143567	Missense_Mutation	SNP	C	TCGA-DW-7963-01B-11D-A28G-10		117143567	24069864	15	34135											
GAD2	2572	hgsc.bcm.edu	37	10	26506915	26506915	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr10:26506915C>T	ENST00000376261.3	+	3	784	c.281C>T	c.(280-282)gCa>gTa	p.A94V	GAD2_ENST00000376248.1_5'Flank|GAD2_ENST00000259271.3_Missense_Mutation_p.A94V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	94					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTCTCCATGCAACAGGTAAA	0.721																																																0													27	36	33					10																	26506915		2200	4295	6495	SO:0001583	missense	2572			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.281C>T	chr10.hg19:g.26506915C>T	ENSP00000365437:p.Ala94Val		Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	hg19	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996975	0.54147	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.59638	0.25;0.25;0.25	5.84	4.88	0.63580	.	0.414814	0.27068	N	0.021100	T	0.51398	0.1672	L	0.54323	1.7	0.80722	D	1	P;B	0.39480	0.675;0.048	B;B	0.32864	0.154;0.016	T	0.59289	-0.7482	10	0.56958	D	0.05	-3.897	16.0867	0.81060	0.0:0.866:0.134:0.0	.	94;94	Q4G154;Q05329	.;DCE2_HUMAN	V	94	ENSP00000365437:A94V;ENSP00000259271:A94V;ENSP00000390434:A94V	ENSP00000259271:A94V	A	+	2	0	GAD2	26546921	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.858000	0.62947	2.768000	0.95171	0.561000	0.74099	GCA		0.721	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		T	26506915	C	T	26506915	3	4	627	1	0	0	0	0	1	0	0	0	6182	710	25	2	291	2	GAD2	10	26506915	Missense_Mutation	SNP	C	TCGA-DW-7963-01B-11D-A28G-10		26506915	109027832	16	34136											
KIF5B	3799	hgsc.bcm.edu	37	10	32326205	32326205	+	Missense_Mutation	SNP	C	C	A			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr10:32326205C>A	ENST00000302418.4	-	8	1145	c.688G>T	c.(688-690)Gtt>Ttt	p.V230F		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	230	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTAAATCAACCAGATAAAGT	0.338			T	"RET, ALK"	NSCLC																																		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													127	110	116					10																	32326205		2202	4298	6500	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.688G>T	chr10.hg19:g.32326205C>A	ENSP00000307078:p.Val230Phe		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	hg19	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891963	0.91889	.	.	ENSG00000170759	ENST00000302418	D	0.83335	-1.71	5.0	5.0	0.66597	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.062994	0.64402	D	0.000007	D	0.95404	0.8508	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97679	1.0171	10	0.87932	D	0	.	18.6607	0.91471	0.0:1.0:0.0:0.0	.	230	P33176	KINH_HUMAN	F	230	ENSP00000307078:V230F	ENSP00000307078:V230F	V	-	1	0	KIF5B	32366211	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.811000	0.86092	2.449000	0.82847	0.557000	0.71058	GTT		0.338	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		A	32326205	C	A	32326205	3	1	627	1	0	0	0	0	1	0	0	0	8308	507	18	4	2275	4	KIF5B	10	32326205	Missense_Mutation	SNP	C	TCGA-DW-7963-01B-11D-A28G-10	5819290	32326205	103208542	17	34137											
MUC2	4583	hgsc.bcm.edu	37	11	1093204	1093204	+	Missense_Mutation	SNP	C	C	A	rs56299570		TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr11:1093204C>A	ENST00000441003.2	+	30	5050	c.5023C>A	c.(5023-5025)Cca>Aca	p.P1675T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.P1642T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.P1675T(1)|p.P1642T(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	gtccccaaccccaacagccat	0.627																																																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5023C>A	chr11.hg19:g.1093204C>A	ENSP00000415183:p.Pro1675Thr		Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	C	0.954	-0.705464	0.03255	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.09073	3.02;3.53	1.75	-3.49	0.04724	.	0.575351	0.10542	U	0.662513	T	0.04092	0.0114	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45381	-0.9265	9	0.16896	T	0.51	.	6.9769	0.24681	0.6778:0.3222:0.0:0.0	rs56299570	1675	E7EUV1	.	T	1675;1642	ENSP00000415183:P1675T;ENSP00000351956:P1642T	ENSP00000351956:P1642T	P	+	1	0	MUC2	1083204	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.268000	0.00533	-1.450000	0.01936	0.184000	0.17185	CCA		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		A	1093204	C	A	1093204	3	1	627	1	0	0	0	0	1	0	0	0	9977	623	22	4	5141	4	MUC2	11	1093204	Missense_Mutation	SNP	C	TCGA-DW-7963-01B-11D-A28G-10		1093204	133913312	18	34138											
STIM1	6786	hgsc.bcm.edu	37	11	4104179	4104179	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr11:4104179T>G	ENST00000300737.4	+	9	1774	c.1205T>G	c.(1204-1206)cTg>cGg	p.L402R	STIM1_ENST00000527651.1_Missense_Mutation_p.L402R|STIM1_ENST00000533977.1_Missense_Mutation_p.L229R	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	402	SOAR/CAD.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGCTCTTCCCTGGATGATGTA	0.448																																																0													104	93	97					11																	4104179		2201	4298	6499	SO:0001583	missense	6786			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"Sterile alpha motif (SAM) domain containing"	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1205T>G	chr11.hg19:g.4104179T>G	ENSP00000300737:p.Leu402Arg		E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	hg19	CCDS7749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.99|19.99	3.928765|3.928765	0.73327|0.73327	.|.	.|.	ENSG00000167323|ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977|ENST00000526596	T;T;T|.	0.81330|.	-0.52;-1.48;-0.51|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73009|0.73009	0.3532|0.3532	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.69307|.	0.946;0.963|.	T|T	0.73528|0.73528	-0.3954|-0.3954	10|5	0.87932|.	D|.	0|.	-15.7324|-15.7324	14.4442|14.4442	0.67338|0.67338	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	402;402|.	E9PQJ4;Q13586|.	.;STIM1_HUMAN|.	R|G	402;402;229|133	ENSP00000300737:L402R;ENSP00000436208:L402R;ENSP00000434767:L229R|.	ENSP00000300737:L402R|.	L|W	+|+	2|1	0|0	STIM1|STIM1	4060755|4060755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.687000|7.687000	0.84139|0.84139	2.007000|2.007000	0.58848|0.58848	0.374000|0.374000	0.22700|0.22700	CTG|TGG		0.448	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		G	4104179	T	G	4104179	3	3	627	1	0	0	0	0	1	0	0	0	15288	1580	55	5	1239	5	STIM1	11	4104179	Missense_Mutation	SNP	T	TCGA-DW-7963-01B-11D-A28G-10	3010975	4104179	130902337	19	34139											
ALX1	8092	hgsc.bcm.edu	37	12	85674223	85674223	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr12:85674223C>T	ENST00000316824.3	+	1	339	c.184C>T	c.(184-186)Cac>Tac	p.H62Y		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	62					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CGCCGAGCATCACGTGCGCTT	0.637																																																0													34	35	35					12																	85674223		2203	4300	6503	SO:0001583	missense	8092			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.184C>T	chr12.hg19:g.85674223C>T	ENSP00000315417:p.His62Tyr		Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	hg19	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496984	0.85069	.	.	ENSG00000180318	ENST00000316824	D	0.92149	-2.98	5.47	5.47	0.80525	.	0.115168	0.64402	D	0.000015	D	0.88633	0.6489	N	0.19112	0.55	0.80722	D	1	P	0.39094	0.659	B	0.42959	0.403	D	0.87426	0.2385	10	0.32370	T	0.25	.	19.3325	0.94297	0.0:1.0:0.0:0.0	.	62	Q15699	ALX1_HUMAN	Y	62	ENSP00000315417:H62Y	ENSP00000315417:H62Y	H	+	1	0	ALX1	84198354	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.483000	0.60264	2.558000	0.86282	0.650000	0.86243	CAC		0.637	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		T	85674223	C	T	85674223	3	4	627	1	0	0	0	0	1	0	0	0	556	826	29	2	186	2	ALX1	12	85674223	Missense_Mutation	SNP	C	TCGA-DW-7963-01B-11D-A28G-10		85674223	48177672	20	34140											
HECTD1	25831	hgsc.bcm.edu	37	14	31576342	31576342	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr14:31576342G>A	ENST00000399332.1	-	38	7224	c.6736C>T	c.(6736-6738)Cat>Tat	p.H2246Y	HECTD1_ENST00000553700.1_Missense_Mutation_p.H2246Y	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2246	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCAAGGAAATGAAACAGTTTC	0.383																																																0													113	108	110					14																	31576342		1901	4112	6013	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6736C>T	chr14.hg19:g.31576342G>A	ENSP00000382269:p.His2246Tyr		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	hg19	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	3.742	-0.053467	0.07362	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332	T;T	0.56941	0.43;0.43	6.06	6.06	0.98353	HECT (4);	0.256570	0.26903	U	0.021909	T	0.31949	0.0813	N	0.11201	0.11	0.46298	D	0.99897	P	0.35208	0.49	B	0.32762	0.152	T	0.28138	-1.0053	10	0.02654	T	1	-11.499	18.8088	0.92050	0.0:0.0:1.0:0.0	.	2246	Q9ULT8	HECD1_HUMAN	Y	2246;2248;2246	ENSP00000450697:H2246Y;ENSP00000382269:H2246Y	ENSP00000261312:H2248Y	H	-	1	0	HECTD1	30646093	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.391000	0.73208	2.871000	0.98454	0.655000	0.94253	CAT		0.383	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			A	31576342	G	A	31576342	3	1	627	1	0	0	0	0	1	0	0	0	7041	1290	45	2	1120	2	HECTD1	14	31576342	Missense_Mutation	SNP	G	TCGA-DW-7963-01B-11D-A28G-10		31576342	75773198	21	34141											
KIF7	374654	hgsc.bcm.edu	37	15	90174782	90174782	+	Missense_Mutation	SNP	T	T	G			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr15:90174782T>G	ENST00000394412.3	-	15	3131	c.3055A>C	c.(3055-3057)Aag>Cag	p.K1019Q	KIF7_ENST00000558928.1_5'Flank	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1019					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGCGCTGCTTGAGCAGCGAG	0.677																																																0													29	27	27					15																	90174782		2199	4292	6491	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3055A>C	chr15.hg19:g.90174782T>G	ENSP00000377934:p.Lys1019Gln		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	hg19	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.877591	0.91664	.	.	ENSG00000166813	ENST00000394412	T	0.48836	0.8	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.70275	2.135	0.54753	D	0.999983	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.67321	-0.5700	10	0.40728	T	0.16	.	14.4086	0.67101	0.0:0.0:0.0:1.0	.	505;1019	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	Q	1019	ENSP00000377934:K1019Q	ENSP00000377934:K1019Q	K	-	1	0	KIF7	87975786	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.570000	0.82390	1.802000	0.52723	0.379000	0.24179	AAG		0.677	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		G	90174782	T	G	90174782	3	3	627	1	0	0	0	0	1	0	0	0	8311	1821	63	5	996	5	KIF7	15	90174782	Missense_Mutation	SNP	T	TCGA-DW-7963-01B-11D-A28G-10		90174782	12356610	22	34142											
TRIM72	260434	hgsc.bcm.edu	37	16	31226442	31226442	+	IGR	SNP	G	G	A			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr16:31226442G>A	ENST00000302964.3	-	0	813				TRIM72_ENST00000322122.3_Missense_Mutation_p.R128H|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCCCACGCACGCCTCAAGGTG	0.687																																																0													9	9	9					16																	31226442		1778	3412	5190	SO:0001628	intergenic_variant	493829				CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"pyrin domain containing 1"			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		chr16.hg19:g.31226442G>A			B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	hg19	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815564	0.70912	.	.	ENSG00000177238	ENST00000322122	T	0.57436	0.4	4.93	4.93	0.64822	.	0.080103	0.48767	D	0.000171	T	0.62441	0.2428	L	0.58101	1.795	0.34316	D	0.686018	D	0.89917	1.0	D	0.67725	0.953	T	0.65340	-0.6192	10	0.16420	T	0.52	.	10.896	0.47023	0.0887:0.0:0.9113:0.0	.	128	Q6ZMU5	TRI72_HUMAN	H	128	ENSP00000312675:R128H	ENSP00000312675:R128H	R	+	2	0	TRIM72	31133943	0.998000	0.40836	0.997000	0.53966	0.042000	0.13812	3.403000	0.52615	2.454000	0.82982	0.655000	0.94253	CGC		0.687	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		A	31226442	G	A	31226442	1	1	627	0	1	0	0	0	0	0	0	0	16550	1087	38	1		1	TRIM72	16	31226442	IGR	SNP	G	TCGA-DW-7963-01B-11D-A28G-10		31226442	59128311	23	34143											
ZDHHC7	55625	hgsc.bcm.edu	37	16	85010785	85010785	+	Silent	SNP	G	G	A			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr16:85010785G>A	ENST00000313732.4	-	7	1018	c.666C>T	c.(664-666)ttC>ttT	p.F222F	ZDHHC7_ENST00000564466.1_Silent_p.F259F|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	222					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						CAAGGCACAGGAAGATCAACA	0.463																																																0													155	139	144					16																	85010785		2199	4300	6499	SO:0001819	synonymous_variant	55625			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.666C>T	chr16.hg19:g.85010785G>A			D3DUM1|Q8WV42|Q9NVD8	Silent	SNP	ENST00000313732.4	hg19	CCDS10950.1																																																																																				0.463	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		A	85010785	G	A	85010785	2	1	627	1	0	0	0	0	0	0	0	1	17625	1165	41	2		2	ZDHHC7	16	85010785	Silent	SNP	G	TCGA-DW-7963-01B-11D-A28G-10	53784343	85010785	5343968	24	34144											
ZNF429	353088	hgsc.bcm.edu	37	19	21720704	21720704	+	Missense_Mutation	SNP	A	A	G			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr19:21720704A>G	ENST00000358491.4	+	4	2057	c.1849A>G	c.(1849-1851)Aga>Gga	p.R617G	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AATTCATACTAGAGAGAAACC	0.373																																																0													59	65	63					19																	21720704		2081	4245	6326	SO:0001583	missense	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1849A>G	chr19.hg19:g.21720704A>G	ENSP00000351280:p.Arg617Gly		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	hg19	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.970090	0.00457	.	.	ENSG00000197013	ENST00000358491	T	0.11495	2.77	1.25	-2.5	0.06384	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01489	0.0048	N	0.00094	-2.165	0.27992	N	0.935624	B	0.02656	0.0	B	0.01281	0.0	T	0.42666	-0.9438	9	0.02654	T	1	.	7.448	0.27221	0.2389:0.0:0.7611:0.0	.	617	Q86V71	ZN429_HUMAN	G	617	ENSP00000351280:R617G	ENSP00000351280:R617G	R	+	1	2	ZNF429	21512544	0.360000	0.24964	0.000000	0.03702	0.008000	0.06430	0.999000	0.29757	-0.893000	0.03930	-0.627000	0.03993	AGA		0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		G	21720704	A	G	21720704	3	3	627	1	0	0	0	0	1	0	0	0	17907	412	15	3	1863	3	ZNF429	19	21720704	Missense_Mutation	SNP	A	TCGA-DW-7963-01B-11D-A28G-10		21720704	37408279	25	34145											
DNMT3B	1789	hgsc.bcm.edu	37	20	31389169	31389169	+	Missense_Mutation	SNP	G	G	C			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr20:31389169G>C	ENST00000328111.2	+	19	2403	c.2082G>C	c.(2080-2082)tgG>tgC	p.W694C	DNMT3B_ENST00000443239.3_Missense_Mutation_p.W632C|DNMT3B_ENST00000201963.3_Missense_Mutation_p.W686C|DNMT3B_ENST00000348286.2_Missense_Mutation_p.W674C|DNMT3B_ENST00000353855.2_Missense_Mutation_p.W674C|DNMT3B_ENST00000456297.2_Missense_Mutation_p.W598C|DNMT3B_ENST00000344505.4_Missense_Mutation_p.W674C	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	694	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTTCTTCTGGATGTTTGAGA	0.532																																																0													105	95	98					20																	31389169		2203	4300	6503	SO:0001583	missense	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2082G>C	chr20.hg19:g.31389169G>C	ENSP00000328547:p.Trp694Cys		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	hg19	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875757	0.91664	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.91858	0.7423	M	0.80508	2.5	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	0.91635	0.992;0.998;0.999;0.999;0.987;0.999;0.999	D	0.92078	0.5670	10	0.87932	D	0	-23.2234	19.2924	0.94105	0.0:0.0:1.0:0.0	.	598;632;393;686;674;674;694	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	C	694;674;674;632;598;674;686	ENSP00000328547:W694C;ENSP00000313397:W674C;ENSP00000337764:W674C;ENSP00000403169:W632C;ENSP00000412305:W598C;ENSP00000345105:W674C;ENSP00000201963:W686C	ENSP00000201963:W686C	W	+	3	0	DNMT3B	30852830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.878000	0.98634	0.650000	0.86243	TGG		0.532	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		C	31389169	G	C	31389169	3	2	627	1	0	0	0	0	1	0	0	0	4679	1183	41	4	2192	4	DNMT3B	20	31389169	Missense_Mutation	SNP	G	TCGA-DW-7963-01B-11D-A28G-10		31389169	31636351	26	34146											
L3MBTL	26013	hgsc.bcm.edu	37	20	42162966	42162966	+	Missense_Mutation	SNP	G	G	A			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr20:42162966G>A	ENST00000427442.2	+	15	1735	c.1576G>A	c.(1576-1578)Gtg>Atg	p.V526M	L3MBTL1_ENST00000444063.1_Missense_Mutation_p.V458M|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.V526M|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.V458M|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.V458M			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	458					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCTGGAGGCTGTGGACCGCAG	0.632																																																0													45	47	46					20																	42162966		2203	4300	6503	SO:0001583	missense	26013			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1576G>A	chr20.hg19:g.42162966G>A	ENSP00000402107:p.Val526Met		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	hg19	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	31	5.080728	0.94050	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	5.39	5.39	0.77823	.	0.115236	0.64402	D	0.000019	T	0.69324	0.3098	M	0.91459	3.21	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.997;1.0;0.996	T	0.76170	-0.3057	10	0.87932	D	0	.	18.0965	0.89492	0.0:0.0:1.0:0.0	.	526;110;458;458	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1	.;.;.;.	M	526;526;458;458;458;244;110	ENSP00000402107:V526M;ENSP00000398516:V526M;ENSP00000362227:V458M;ENSP00000403316:V458M;ENSP00000362226:V458M;ENSP00000410139:V244M	ENSP00000362225:V110M	V	+	1	0	L3MBTL1	41596380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.598000	0.98277	2.804000	0.96469	0.655000	0.94253	GTG		0.632	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		A	42162966	G	A	42162966	3	1	627	1	0	0	0	0	1	0	0	0	8593	1377	48	2	1418	2	L3MBTL	20	42162966	Missense_Mutation	SNP	G	TCGA-DW-7963-01B-11D-A28G-10	10773797	42162966	20862554	27	34147											
DOPEY2	9980	hgsc.bcm.edu	37	21	37642372	37642372	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr21:37642372C>T	ENST00000399151.3	+	27	5634	c.5549C>T	c.(5548-5550)aCc>aTc	p.T1850I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1850					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGGAGCAAACCAGCTGGCTA	0.493																																																0													104	109	108					21																	37642372		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5549C>T	chr21.hg19:g.37642372C>T	ENSP00000382104:p.Thr1850Ile		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	hg19	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422737	0.83559	.	.	ENSG00000142197	ENST00000399151	T	0.14516	2.5	5.47	4.59	0.56863	.	0.049713	0.85682	N	0.000000	T	0.41119	0.1145	M	0.85542	2.76	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41998	-0.9477	10	0.51188	T	0.08	-3.5123	13.7957	0.63168	0.0:0.9267:0.0:0.0733	.	1850;1850	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	I	1850	ENSP00000382104:T1850I	ENSP00000382104:T1850I	T	+	2	0	DOPEY2	36564242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.300000	0.78841	1.311000	0.45024	0.650000	0.86243	ACC		0.493	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		T	37642372	C	T	37642372	3	4	627	1	0	0	0	0	1	0	0	0	4710	507	18	2	5651	2	DOPEY2	21	37642372	Missense_Mutation	SNP	C	TCGA-DW-7963-01B-11D-A28G-10		37642372	10487523	28	34148											
ZBED4	9889	hgsc.bcm.edu	37	22	50279802	50279802	+	Missense_Mutation	SNP	C	C	T			TCGA-DW-7963-01B-11D-A28G-10	TCGA-DW-7963-10C-01D-A28G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	15b3020f-71db-4d0e-8f6a-edf5552e3064	a522a63d-1b4f-46ea-bcfc-5dbbc855a5bb	g.chr22:50279802C>T	ENST00000216268.5	+	2	2969	c.2492C>T	c.(2491-2493)aCg>aTg	p.T831M		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	831						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TTCAGCCATACGGTGAACCTG	0.642																																																0													35	35	35					22																	50279802		2202	4300	6502	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2492C>T	chr22.hg19:g.50279802C>T	ENSP00000216268:p.Thr831Met		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	hg19	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451158	0.43531	.	.	ENSG00000100426	ENST00000216268	T	0.23348	1.91	5.57	3.46	0.39613	Ribonuclease H-like (1);	0.113857	0.64402	N	0.000019	T	0.47911	0.1471	M	0.77820	2.39	0.49483	D	0.999791	D	0.89917	1.0	D	0.71656	0.974	T	0.44757	-0.9307	10	0.54805	T	0.06	-22.2447	10.3753	0.44079	0.1354:0.7951:0.0:0.0695	.	831	O75132	ZBED4_HUMAN	M	831	ENSP00000216268:T831M	ENSP00000216268:T831M	T	+	2	0	ZBED4	48665806	0.999000	0.42202	0.659000	0.29680	0.301000	0.27625	4.300000	0.59079	0.688000	0.31529	0.655000	0.94253	ACG		0.642	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		T	50279802	C	T	50279802	3	4	627	1	0	0	0	0	1	0	0	0	17525	536	19	1	2494	1	ZBED4	22	50279802	Missense_Mutation	SNP	C	TCGA-DW-7963-01B-11D-A28G-10		50279802	1024764	29	34149											
ZCCHC17	51538	hgsc.bcm.edu	37	1	31836979	31836979	+	Missense_Mutation	SNP	A	A	C	rs111803813		TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr1:31836979A>C	ENST00000373714.1	+	8	926	c.665A>C	c.(664-666)gAc>gCc	p.D222A	ZCCHC17_ENST00000546109.1_Missense_Mutation_p.D214A|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.D222A|FABP3_ENST00000497275.1_5'Flank|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.D224A	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	222	Lys-rich.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		ACATCAAAAGACAGCAAGGCA	0.433																																																0													82	86	85					1																	31836979		2203	4300	6503	SO:0001583	missense	51538			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.665A>C	chr1.hg19:g.31836979A>C	ENSP00000362819:p.Asp222Ala		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	hg19	CCDS341.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.025038	0.54683	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	.	.	.	5.08	5.08	0.68730	.	0.376195	0.32055	N	0.006643	T	0.41488	0.1161	N	0.19112	0.55	0.25685	N	0.98575	D;B;B	0.69078	0.997;0.023;0.008	D;B;B	0.75484	0.986;0.007;0.001	T	0.23904	-1.0175	9	0.66056	D	0.02	.	9.0275	0.36239	0.814:0.186:0.0:0.0	.	224;214;222	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	A	222;222;214;224	.	ENSP00000343557:D222A	D	+	2	0	ZCCHC17	31609566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.513000	0.45494	2.135000	0.66039	0.528000	0.53228	GAC		0.433	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		C	31836979	A	C	31836979	3	2	628	1	0	0	0	0	1	0	0	0	17590	275	10	5	691	5	ZCCHC17	1	31836979	Missense_Mutation	SNP	A	TCGA-DZ-6131-01A-11D-1961-08		31836979	217413642	1	34150											
ADAM30	11085	hgsc.bcm.edu	37	1	120436921	120436921	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr1:120436921C>T	ENST00000369400.1	-	1	2197	c.2039G>A	c.(2038-2040)gGg>gAg	p.G680E		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	680					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GGGAATCGCCCCTCTGAGCAG	0.473																																																0													65	64	64					1																	120436921		2203	4300	6503	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2039G>A	chr1.hg19:g.120436921C>T	ENSP00000358407:p.Gly680Glu		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	hg19	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.021307	0.00414	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01126	5.3	5.05	-10.1	0.00402	.	3.564080	0.01402	N	0.013659	T	0.00109	0.0003	N	0.05031	-0.125	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.47394	-0.9121	10	0.02654	T	1	.	1.9545	0.03373	0.4755:0.1902:0.2118:0.1224	.	680	Q9UKF2	ADA30_HUMAN	E	680	ENSP00000358407:G680E	ENSP00000358407:G680E	G	-	2	0	ADAM30	120238444	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-4.800000	0.00031	-1.047000	0.02352	GGG		0.473	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		T	120436921	C	T	120436921	3	4	628	1	0	0	0	0	1	0	0	0	248	623	22	2	337	2	ADAM30	1	120436921	Missense_Mutation	SNP	C	TCGA-DZ-6131-01A-11D-1961-08	88599942	120436921	128813700	2	34151											
AIM2	9447	hgsc.bcm.edu	37	1	159033450	159033450	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr1:159033450C>G	ENST00000368130.4	-	5	1119	c.831G>C	c.(829-831)aaG>aaC	p.K277N	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	277	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ATATGTTTTTCTTCTTTTCTG	0.398																																																0													117	121	120					1																	159033450		2203	4300	6503	SO:0001583	missense	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.831G>C	chr1.hg19:g.159033450C>G	ENSP00000357112:p.Lys277Asn		A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	hg19	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	C	2.160	-0.392489	0.04899	.	.	ENSG00000163568	ENST00000368130;ENST00000368129	T;T	0.14266	2.52;2.52	3.92	-4.82	0.03171	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	1.433050	0.05063	N	0.480252	T	0.01558	0.0050	N	0.17723	0.515	0.09310	N	1	B	0.21606	0.058	B	0.19391	0.025	T	0.42816	-0.9429	10	0.14252	T	0.57	-0.6466	1.0125	0.01500	0.1428:0.2093:0.2823:0.3657	.	277	O14862	AIM2_HUMAN	N	277;140	ENSP00000357112:K277N;ENSP00000357111:K140N	ENSP00000357111:K140N	K	-	3	2	AIM2	157300074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.991000	0.03728	-0.739000	0.04809	-1.099000	0.02127	AAG		0.398	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		G	159033450	C	G	159033450	3	3	628	1	0	0	0	0	1	0	0	0	432	912	32	4	208	4	AIM2	1	159033450	Missense_Mutation	SNP	C	TCGA-DZ-6131-01A-11D-1961-08	38596529	159033450	90217171	3	34152											
GLUL	2752	hgsc.bcm.edu	37	1	182356292	182356292	+	Missense_Mutation	SNP	A	A	T			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr1:182356292A>T	ENST00000331872.6	-	3	842	c.302T>A	c.(301-303)gTt>gAt	p.V101D	GLUL_ENST00000311223.5_Missense_Mutation_p.V101D|GLUL_ENST00000417584.2_Missense_Mutation_p.V101D|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.V101D	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	101					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	GTACTTGAAAACTTCACATAA	0.493																																																0													112	101	105					1																	182356292		2203	4300	6503	SO:0001583	missense	2752			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"glutamine synthetase"	138290	"glutamate-ammonia ligase (glutamine synthase)"	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.302T>A	chr1.hg19:g.182356292A>T	ENSP00000356537:p.Val101Asp		Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	hg19	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704904	0.88924	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	4.79	4.79	0.61399	Glutamine synthetase, beta-Grasp (3);	0.057690	0.64402	D	0.000002	T	0.78534	0.4298	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84301	0.0505	10	0.72032	D	0.01	-23.933	13.4137	0.60956	1.0:0.0:0.0:0.0	.	101	P15104	GLNA_HUMAN	D	101	ENSP00000356537:V101D;ENSP00000307900:V101D;ENSP00000398320:V101D;ENSP00000344958:V101D	ENSP00000307900:V101D	V	-	2	0	GLUL	180622915	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	8.881000	0.92415	1.897000	0.54924	0.533000	0.62120	GTT		0.493	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		T	182356292	A	T	182356292	3	4	628	1	0	0	0	0	1	0	0	0	6480	43	2	5	839	5	GLUL	1	182356292	Missense_Mutation	SNP	A	TCGA-DZ-6131-01A-11D-1961-08	23322842	182356292	66894329	4	34153											
PTGS2	5743	hgsc.bcm.edu	37	1	186645691	186645691	+	Missense_Mutation	SNP	C	C	A	rs148160346		TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr1:186645691C>A	ENST00000367468.5	-	7	1014	c.878G>T	c.(877-879)cGg>cTg	p.R293L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.R293L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GTTGTGTTCCCGCAGCCAGAT	0.502																																																2	Substitution - Missense(2)	lung(2)											144	132	136					1																	186645691		2203	4300	6503	SO:0001583	missense	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.878G>T	chr1.hg19:g.186645691C>A	ENSP00000356438:p.Arg293Leu		A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	hg19	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214936	0.95104	.	.	ENSG00000073756	ENST00000367468	T	0.81163	-1.46	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93690	0.7984	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.968;1.0	D	0.95450	0.8533	10	0.87932	D	0	-21.2931	19.4407	0.94820	0.0:1.0:0.0:0.0	.	293;293	Q8IZA9;P35354	.;PGH2_HUMAN	L	293	ENSP00000356438:R293L	ENSP00000356438:R293L	R	-	2	0	PTGS2	184912314	0.997000	0.39634	0.982000	0.44146	0.787000	0.44495	7.627000	0.83176	2.586000	0.87340	0.650000	0.86243	CGG		0.502	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		A	186645691	C	A	186645691	3	1	628	1	0	0	0	0	1	0	0	0	12762	652	23	4	952	4	PTGS2	1	186645691	Missense_Mutation	SNP	C	TCGA-DZ-6131-01A-11D-1961-08	4289399	186645691	62604930	5	34154											
APOB	338	hgsc.bcm.edu	37	2	21229220	21229220	+	Missense_Mutation	SNP	C	C	A	rs201156840		TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr2:21229220C>A	ENST00000233242.1	-	26	10647	c.10520G>T	c.(10519-10521)cGg>cTg	p.R3507L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3507	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R3507L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAATATTCCCGAGAAAGAAC	0.448																																																1	Substitution - Missense(1)	lung(1)	GRCh37	CM952192	APOB	M							109	110	110					2																	21229220		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10520G>T	chr2.hg19:g.21229220C>A	ENSP00000233242:p.Arg3507Leu		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478915	0.26511	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.79653	-1.29	5.67	-3.39	0.04868	.	0.839091	0.10443	N	0.674080	T	0.72334	0.3447	L	0.57536	1.79	0.19775	N	0.999952	B	0.26744	0.158	B	0.23150	0.044	T	0.60193	-0.7311	10	0.46703	T	0.11	.	8.7607	0.34672	0.1204:0.2037:0.0:0.6758	.	3507	P04114	APOB_HUMAN	L	3507	ENSP00000233242:R3507L	ENSP00000233242:R3507L	R	-	2	0	APOB	21082725	0.000000	0.05858	0.411000	0.26484	0.262000	0.26303	-2.376000	0.01070	-0.552000	0.06167	-0.136000	0.14681	CGG		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21229220	C	A	21229220	3	1	628	1	0	0	0	0	1	0	0	0	785	652	23	4	3187	4	APOB	2	21229220	Missense_Mutation	SNP	C	TCGA-DZ-6131-01A-11D-1961-08		21229220	221970153	6	34155											
ZDBF2	57683	hgsc.bcm.edu	37	2	207171574	207171574	+	Silent	SNP	G	G	A			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr2:207171574G>A	ENST00000374423.3	+	5	2708	c.2322G>A	c.(2320-2322)cgG>cgA	p.R774R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	774							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAAAGAACGGCACATTGACC	0.428																																																0													174	175	175					2																	207171574		1927	4125	6052	SO:0001819	synonymous_variant	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2322G>A	chr2.hg19:g.207171574G>A			Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	hg19	CCDS46501.1																																																																																				0.428	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		A	207171574	G	A	207171574	2	1	628	1	0	0	0	0	0	0	0	1	17604	1190	42	2		2	ZDBF2	2	207171574	Silent	SNP	G	TCGA-DZ-6131-01A-11D-1961-08	185942354	207171574	36027799	7	34156											
ABCA12	26154	hgsc.bcm.edu	37	2	215865517	215865517	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr2:215865517C>G	ENST00000272895.7	-	22	3310	c.3091G>C	c.(3091-3093)Gca>Cca	p.A1031P	ABCA12_ENST00000389661.4_Missense_Mutation_p.A713P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1031					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAATGATTGCTCTTTCAATA	0.428																																					Ovarian(66;664 1488 5121 34295)											0													125	131	129					2																	215865517		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3091G>C	chr2.hg19:g.215865517C>G	ENSP00000272895:p.Ala1031Pro		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864070	0.91511	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88046	-2.33;-2.33	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	D	0.94896	0.8350	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95165	0.8285	10	0.87932	D	0	.	19.9082	0.97015	0.0:1.0:0.0:0.0	.	1031;713	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	P	1031;713	ENSP00000272895:A1031P;ENSP00000374312:A713P	ENSP00000272895:A1031P	A	-	1	0	ABCA12	215573762	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.594000	0.82698	2.705000	0.92388	0.555000	0.69702	GCA		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		G	215865517	C	G	215865517	3	3	628	1	0	0	0	0	1	0	0	0	30	797	28	4	4824	4	ABCA12	2	215865517	Missense_Mutation	SNP	C	TCGA-DZ-6131-01A-11D-1961-08	8693943	215865517	27333856	8	34157											
DAPP1	27071	hgsc.bcm.edu	37	4	100787246	100787246	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr4:100787246G>C	ENST00000512369.1	+	8	810	c.742G>C	c.(742-744)Gat>Cat	p.D248H	DAPP1_ENST00000296414.7_Missense_Mutation_p.D248H	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	248	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		AGTAGAAGCTGATGAGTGGAT	0.343																																																0													91	83	86					4																	100787246		1863	4100	5963	SO:0001583	missense	27071			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.742G>C	chr4.hg19:g.100787246G>C	ENSP00000423602:p.Asp248His		Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	hg19	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773356	0.90108	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	T;T	0.75589	-0.95;-0.95	6.07	6.07	0.98685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68943	0.956;0.961	T	0.79329	-0.1848	10	0.31617	T	0.26	-8.6315	19.4308	0.94765	0.0:0.0:1.0:0.0	.	248;248	Q9UN19-2;Q9UN19	.;DAPP1_HUMAN	H	248	ENSP00000296414:D248H;ENSP00000423602:D248H	ENSP00000296414:D248H	D	+	1	0	DAPP1	101006269	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.197000	0.89727	2.885000	0.99019	0.655000	0.94253	GAT		0.343	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			C	100787246	G	C	100787246	3	2	628	1	0	0	0	0	1	0	0	0	4241	1290	45	4	772	4	DAPP1	4	100787246	Missense_Mutation	SNP	G	TCGA-DZ-6131-01A-11D-1961-08		100787246	90367030	9	34158											
GALNT7	51809	hgsc.bcm.edu	37	4	174225146	174225146	+	Splice_Site	SNP	G	G	A			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr4:174225146G>A	ENST00000265000.4	+	8	1349		c.e8-1			NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TTCCTTCATAGATATGGCAGT	0.343																																																0													137	126	130					4																	174225146		2203	4300	6503	SO:0001630	splice_region_variant	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1267-1G>A	chr4.hg19:g.174225146G>A			B3KQU3|Q7Z5W7|Q9UJ28	Splice_Site	SNP	ENST00000265000.4	hg19	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313963	0.60414	.	.	ENSG00000109586	ENST00000265000;ENST00000505308;ENST00000458613	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9439	0.97175	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNT7	174461721	1.000000	0.71417	0.997000	0.53966	0.593000	0.36681	9.476000	0.97823	2.706000	0.92434	0.561000	0.74099	.		0.343	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423	Intron	A	174225146	G	A	174225146	5	1	628	1	0	0	0	0	0	0	1	0	6220	956	33	2	1296	2	GALNT7	4	174225146	Splice_Site	SNP	G	TCGA-DZ-6131-01A-11D-1961-08	73437900	174225146	16929130	10	34159											
ARSK	153642	hgsc.bcm.edu	37	5	94922371	94922371	+	Missense_Mutation	SNP	A	A	G	rs201849642		TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr5:94922371A>G	ENST00000380009.4	+	5	1010	c.805A>G	c.(805-807)Aaa>Gaa	p.K269E		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	269					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AAGATTTACAAAAAAAGAAAT	0.338																																																0													61	65	64					5																	94922371		2201	4297	6498	SO:0001583	missense	153642				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.805A>G	chr5.hg19:g.94922371A>G	ENSP00000369346:p.Lys269Glu		A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	hg19	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	A	3.355	-0.131627	0.06753	.	.	ENSG00000164291	ENST00000380009	D	0.99891	-7.56	5.93	-1.94	0.07571	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.568944	0.20517	N	0.090774	D	0.97851	0.9294	N	0.03016	-0.435	0.30818	N	0.738095	B	0.06786	0.001	B	0.06405	0.002	D	0.99988	1.3720	10	0.02654	T	1	-0.6336	8.1825	0.31319	0.5545:0.1084:0.3371:0.0	.	269	Q6UWY0	ARSK_HUMAN	E	269	ENSP00000369346:K269E	ENSP00000369346:K269E	K	+	1	0	ARSK	94948127	0.982000	0.34865	0.741000	0.31004	0.871000	0.50021	0.596000	0.24044	-0.248000	0.09583	-0.132000	0.14878	AAA		0.338	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		G	94922371	A	G	94922371	3	3	628	1	0	0	0	0	1	0	0	0	996	15	1	3	823	3	ARSK	5	94922371	Missense_Mutation	SNP	A	TCGA-DZ-6131-01A-11D-1961-08		94922371	85992889	11	34160											
TEX15	56154	hgsc.bcm.edu	37	8	30694449	30694449	+	Silent	SNP	T	T	C			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr8:30694449T>C	ENST00000256246.2	-	3	8276	c.8202A>G	c.(8200-8202)caA>caG	p.Q2734Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2734					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTATTTGAGATTGAAAATACC	0.408																																																0													97	100	99					8																	30694449		2203	4300	6503	SO:0001819	synonymous_variant	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8202A>G	chr8.hg19:g.30694449T>C				Silent	SNP	ENST00000256246.2	hg19	CCDS6080.1																																																																																				0.408	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			C	30694449	T	C	30694449	2	2	628	1	0	0	0	0	0	0	0	1	15784	1490	52	3		3	TEX15	8	30694449	Silent	SNP	T	TCGA-DZ-6131-01A-11D-1961-08		30694449	115669573	12	34161											
C9orf84	158401	hgsc.bcm.edu	37	9	114454268	114454270	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr9:114454268_114454270delCTC	ENST00000318737.4	-	25	3923_3925	c.3795_3797delGAG	c.(3793-3798)aggaga>aga	p.1265_1266RR>R	C9orf84_ENST00000394777.4_In_Frame_Del_p.1191_1192RR>R|C9orf84_ENST00000374287.3_In_Frame_Del_p.1265_1266RR>R|C9orf84_ENST00000394779.3_In_Frame_Del_p.1226_1227RR>R	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1265										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCATGTGTTCTCCTTTTCTGAG	0.369																																																0																																										SO:0001651	inframe_deletion	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3795_3797delGAG	chr9.hg19:g.114454268_114454270delCTC	ENSP00000322108:p.Arg1266del		A2A2V3|Q2M1H8|Q96M73	In_Frame_Del	DEL	ENST00000318737.4	hg19	CCDS6781.3																																																																																				0.369	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		-	114454270	CTC	-	114454268	7	5	628	1	0	1	0	1	0	0	0	0	2502	913	32	0	545	0	C9orf84	9	114454268	In_Frame_Del	DEL	CTC	TCGA-DZ-6131-01A-11D-1961-08		114454268	26759163	13	34162											
MUC2	4583	hgsc.bcm.edu	37	11	1099777	1099777	+	Silent	SNP	T	T	C			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr11:1099777T>C	ENST00000441003.2	+	40	7401	c.7374T>C	c.(7372-7374)ccT>ccC	p.P2458P		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4820					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGTGGGACCTGACAATGTGC	0.572																																																0													140	152	148					11																	1099777		2080	4206	6286	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7374T>C	chr11.hg19:g.1099777T>C			Q14878	Silent	SNP	ENST00000441003.2	hg19																																																																																					0.572	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		C	1099777	T	C	1099777	2	2	628	1	0	0	0	0	0	0	0	1	9977	1567	55	3		3	MUC2	11	1099777	Silent	SNP	T	TCGA-DZ-6131-01A-11D-1961-08		1099777	133906739	14	34163											
FZD4	8322	hgsc.bcm.edu	37	11	86663408	86663408	+	Silent	SNP	G	G	T			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr11:86663408G>T	ENST00000531380.1	-	2	695	c.390C>A	c.(388-390)ccC>ccA	p.P130P	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	130	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P130P(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTTCAGGACGGGTTCACAGC	0.517																																																1	Substitution - coding silent(1)	lung(1)											99	105	103					11																	86663408		2201	4299	6500	SO:0001819	synonymous_variant	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.390C>A	chr11.hg19:g.86663408G>T			A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	hg19	CCDS8279.1																																																																																				0.517	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		T	86663408	G	T	86663408	2	4	628	1	0	0	0	0	0	0	0	1	6134	1103	39	4		4	FZD4	11	86663408	Silent	SNP	G	TCGA-DZ-6131-01A-11D-1961-08	85563631	86663408	48343108	15	34164											
A2ML1	144568	hgsc.bcm.edu	37	12	9000291	9000291	+	Silent	SNP	C	C	T			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr12:9000291C>T	ENST00000299698.7	+	15	2010	c.1830C>T	c.(1828-1830)cgC>cgT	p.R610R	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Silent_p.R119R	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGAGCAACCGCTCTGTGAGTA	0.557																																																0													78	77	78					12																	9000291		1955	4145	6100	SO:0001819	synonymous_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1830C>T	chr12.hg19:g.9000291C>T				Silent	SNP	ENST00000299698.7	hg19	CCDS8596.2																																																																																				0.557	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		T	9000291	C	T	9000291	2	4	628	1	0	0	0	0	0	0	0	1	5	784	28	2		2	A2ML1	12	9000291	Silent	SNP	C	TCGA-DZ-6131-01A-11D-1961-08		9000291	124851604	16	34165											
TMEM5	10329	hgsc.bcm.edu	37	12	64174892	64174892	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr12:64174892T>G	ENST00000261234.6	+	2	421	c.263T>G	c.(262-264)tTa>tGa	p.L88*	TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR|RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	88						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CTTCAAATATTAGATAAATCC	0.363																																																0													82	89	86					12																	64174892		2203	4300	6503	SO:0001587	stop_gained	10329			AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.263T>G	chr12.hg19:g.64174892T>G	ENSP00000261234:p.Leu88*		A8K017|Q6PKD6	Nonsense_Mutation	SNP	ENST00000261234.6	hg19	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051948	0.75960	.	.	ENSG00000118600	ENST00000261234	.	.	.	4.34	4.34	0.51931	.	0.447903	0.20965	N	0.082490	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.428	10.4561	0.44550	0.0:0.0:0.0:1.0	.	.	.	.	X	88	.	.	L	+	2	0	TMEM5	62461159	0.996000	0.38824	0.945000	0.38365	0.457000	0.32468	4.615000	0.61190	1.897000	0.54924	0.402000	0.26972	TTA		0.363	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		G	64174892	T	G	64174892	4	3	628	1	0	0	0	0	0	1	0	0	16179	1764	61	5	269	5	TMEM5	12	64174892	Nonsense_Mutation	SNP	T	TCGA-DZ-6131-01A-11D-1961-08	55174601	64174892	69677003	17	34166											
PPP1R12A	4659	hgsc.bcm.edu	37	12	80203769	80203769	+	Missense_Mutation	SNP	T	T	G			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr12:80203769T>G	ENST00000450142.2	-	10	1527	c.1261A>C	c.(1261-1263)Att>Ctt	p.I421L	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.I421L|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.I334L|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.I421L|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.I421L	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	421					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TTGGGAGAAATTTTTGTAGCT	0.363																																																0													86	76	79					12																	80203769		1802	4069	5871	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1261A>C	chr12.hg19:g.80203769T>G	ENSP00000389168:p.Ile421Leu		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	hg19	CCDS44947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.128|2.128	-0.399892|-0.399892	0.04865|0.04865	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131|ENST00000553081	T;T;T;T;T;T;T|T	0.39997|0.34667	1.43;1.43;1.45;1.49;1.44;1.44;1.05|1.35	5.86|5.86	0.0418|0.0418	0.14214|0.14214	.|.	0.725412|.	0.14249|.	N|.	0.331574|.	T|T	0.18045|0.18045	0.0433|0.0433	N|N	0.03608|0.03608	-0.345|-0.345	0.26994|0.26994	N|N	0.965072|0.965072	B;B;B;B|.	0.24823|.	0.112;0.002;0.0;0.0|.	B;B;B;B|.	0.20384|.	0.029;0.001;0.0;0.0|.	T|T	0.26224|0.26224	-1.0109|-1.0109	10|7	0.08381|0.54805	T|T	0.77|0.06	.|.	9.6186|9.6186	0.39708|0.39708	0.0:0.558:0.0:0.442|0.0:0.558:0.0:0.442	.|.	421;421;421;421|.	F8W8Q6;O14974-2;O14974-3;O14974|.	.;.;.;MYPT1_HUMAN|.	L|N	421;421;421;421;421;421;421;334;421;421;116|24	ENSP00000261207:I421L;ENSP00000389168:I421L;ENSP00000416769:I421L;ENSP00000449514:I334L;ENSP00000446855:I421L;ENSP00000446816:I421L;ENSP00000450061:I116L|ENSP00000447144:K24N	ENSP00000261207:I421L|ENSP00000447144:K24N	I|K	-|-	1|3	0|2	PPP1R12A|PPP1R12A	78727900|78727900	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.852000|0.852000	0.48524|0.48524	0.848000|0.848000	0.27710|0.27710	0.016000|0.016000	0.14998|0.14998	0.467000|0.467000	0.42956|0.42956	ATT|AAA		0.363	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		G	80203769	T	G	80203769	3	3	628	1	0	0	0	0	1	0	0	0	12359	1493	52	5	1895	5	PPP1R12A	12	80203769	Missense_Mutation	SNP	T	TCGA-DZ-6131-01A-11D-1961-08	16028877	80203769	53648126	18	34167											
P2RX7	5027	hgsc.bcm.edu	37	12	121622232	121622232	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr12:121622232A>G	ENST00000546057.1	+	13	1558	c.1415A>G	c.(1414-1416)gAt>gGt	p.D472G	P2RX7_ENST00000535250.1_Missense_Mutation_p.D382G|P2RX7_ENST00000328963.5_Missense_Mutation_p.D302G|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000541446.1_Missense_Mutation_p.D183G	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	472					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGATCCAGGGATAGCCCCGTC	0.617																																																0													67	63	64					12																	121622232		2203	4300	6503	SO:0001583	missense	5027			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1415A>G	chr12.hg19:g.121622232A>G	ENSP00000442349:p.Asp472Gly		A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	hg19	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721694	0.48728	.	.	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250;ENST00000541446	T;T;T;T	0.05081	4.39;4.01;4.18;3.5	5.21	-0.0551	0.13811	.	1.055260	0.07477	N	0.903142	T	0.06188	0.0160	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.002;0.003;0.002	T	0.41980	-0.9478	10	0.38643	T	0.18	.	5.215	0.15338	0.6048:0.1445:0.2507:0.0	.	302;183;382;472	F8W951;F5H6P2;F5H7E8;Q99572	.;.;.;P2RX7_HUMAN	G	472;302;382;183	ENSP00000442349:D472G;ENSP00000330696:D302G;ENSP00000442572:D382G;ENSP00000437471:D183G	ENSP00000330696:D302G	D	+	2	0	P2RX7	120106615	0.000000	0.05858	0.091000	0.20842	0.830000	0.47004	-0.143000	0.10296	0.321000	0.23259	0.482000	0.46254	GAT		0.617	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		G	121622232	A	G	121622232	3	3	628	1	0	0	0	0	1	0	0	0	11347	333	12	3	1465	3	P2RX7	12	121622232	Missense_Mutation	SNP	A	TCGA-DZ-6131-01A-11D-1961-08	41418463	121622232	12229663	19	34168											
PCDH8	5100	hgsc.bcm.edu	37	13	53422307	53422307	+	Missense_Mutation	SNP	C	C	T	rs570624635	byFrequency	TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr13:53422307C>T	ENST00000377942.3	-	1	468	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	PCDH8_ENST00000338862.4_Missense_Mutation_p.G89S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGGTCCAGGCCGGCGTCCCCG	0.657																																					GBM(36;25 841 9273 49207)											0													35	38	37					13																	53422307		2201	4296	6497	SO:0001583	missense	5100			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.265G>A	chr13.hg19:g.53422307C>T	ENSP00000367177:p.Gly89Ser		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	hg19	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724665	0.68959	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.26373	1.74;1.74	4.99	4.99	0.66335	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.41605	D	0.000846	T	0.33702	0.0872	N	0.20530	0.585	0.32118	N	0.588379	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.28650	-1.0037	10	0.32370	T	0.25	.	13.1397	0.59428	0.0:0.84:0.1599:0.0	.	89;89	O95206-2;O95206	.;PCDH8_HUMAN	S	89	ENSP00000367177:G89S;ENSP00000341350:G89S	ENSP00000341350:G89S	G	-	1	0	PCDH8	52320308	0.981000	0.34729	0.997000	0.53966	0.948000	0.59901	2.542000	0.45744	2.337000	0.79520	0.561000	0.74099	GGC		0.657	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		T	53422307	C	T	53422307	3	4	628	1	0	0	0	0	1	0	0	0	11519	652	23	1	2959	1	PCDH8	13	53422307	Missense_Mutation	SNP	C	TCGA-DZ-6131-01A-11D-1961-08		53422307	61747571	20	34169											
MAGEL2	54551	hgsc.bcm.edu	37	15	23890238	23890238	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr15:23890238C>G	ENST00000532292.1	-	1	937	c.843G>C	c.(841-843)aaG>aaC	p.K281N		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	164					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TCCGGGTGGCCTTGCCGGAGC	0.637																																																0													42	49	47					15																	23890238		2189	4294	6483	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.843G>C	chr15.hg19:g.23890238C>G	ENSP00000433433:p.Lys281Asn			Missense_Mutation	SNP	ENST00000532292.1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.19	2.758766	0.49468	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.22	0.668	0.17912	.	.	.	.	.	T	0.23688	0.0573	N	0.24115	0.695	0.24891	N	0.99217	.	.	.	.	.	.	T	0.26916	-1.0089	5	.	.	.	.	7.2244	0.26007	0.0:0.461:0.0:0.539	.	.	.	.	T	313	.	.	R	-	2	0	MAGEL2	21441331	0.347000	0.24853	0.771000	0.31576	0.872000	0.50106	-0.733000	0.04898	0.092000	0.17331	-0.302000	0.09304	AGG		0.637	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		G	23890238	C	G	23890238	3	3	628	1	0	0	0	0	1	0	0	0	9191	680	24	4	1101	4	MAGEL2	15	23890238	Missense_Mutation	SNP	C	TCGA-DZ-6131-01A-11D-1961-08		23890238	78641154	21	34170											
MGRN1	23295	hgsc.bcm.edu	37	16	4700468	4700468	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr16:4700468G>T	ENST00000399577.5	+	2	284	c.191G>T	c.(190-192)gGc>gTc	p.G64V	MGRN1_ENST00000415496.1_Missense_Mutation_p.G64V|MGRN1_ENST00000588994.1_Missense_Mutation_p.G64V|MGRN1_ENST00000262370.7_Missense_Mutation_p.G64V|MGRN1_ENST00000586183.1_Missense_Mutation_p.G64V	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	64					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AACTTCCTGGGCAGCCGCCCG	0.597																																																0													76	81	80					16																	4700468		1892	4125	6017	SO:0001583	missense	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.191G>T	chr16.hg19:g.4700468G>T	ENSP00000382487:p.Gly64Val		A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	hg19	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518548	0.85495	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.4	5.4	0.78164	.	0.099811	0.64402	D	0.000001	T	0.62183	0.2407	M	0.86864	2.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.998;0.979;0.996;0.991;1.0	T	0.68907	-0.5285	10	0.87932	D	0	-46.144	16.6736	0.85273	0.0:0.0:1.0:0.0	.	64;64;64;64;64;64	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	V	64	ENSP00000262370:G64V;ENSP00000382487:G64V;ENSP00000393311:G64V;ENSP00000443810:G64V	ENSP00000262370:G64V	G	+	2	0	MGRN1	4640469	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.785000	0.99042	2.537000	0.85549	0.561000	0.74099	GGC		0.597	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			T	4700468	G	T	4700468	3	4	628	1	0	0	0	0	1	0	0	0	9561	1203	42	4	197	4	MGRN1	16	4700468	Missense_Mutation	SNP	G	TCGA-DZ-6131-01A-11D-1961-08		4700468	85654285	22	34171											
CMTM1	113540	hgsc.bcm.edu	37	16	66612903	66612903	+	Silent	SNP	G	G	A			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr16:66612903G>A	ENST00000457188.2	+	4	630	c.509G>A	c.(508-510)tGa>tAa	p.*170*	CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000529506.1_Silent_p.*71*|CMTM1_ENST00000528324.1_3'UTR|CMTM2_ENST00000379486.2_5'Flank|CMTM1_ENST00000332695.7_Silent_p.*123*|CMTM1_ENST00000328020.6_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CMTM1_ENST00000336328.6_Silent_p.*117*|CMTM2_ENST00000268595.2_5'Flank|CMTM1_ENST00000533953.1_Silent_p.*239*|RP11-403P17.2_ENST00000568430.1_RNA|CMTM1_ENST00000379500.2_Silent_p.*287*|CKLF-CMTM1_ENST00000527729.1_Silent_p.*116*	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	0					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		AGGCCCGCCTGAAGCCAGCCC	0.627																																																0													34	41	38					16																	66612903		2201	4299	6500	SO:0001819	synonymous_variant	113540			AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"chemokine-like factor super family 1", "chemokine-like factor superfamily 1"	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.509G>A	chr16.hg19:g.66612903G>A			Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	ENST00000457188.2	hg19	CCDS45503.1																																																																																				0.627	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		A	66612903	G	A	66612903	2	1	628	1	0	0	0	0	0	0	0	1	3584	1285	45	2		2	CMTM1	16	66612903	Silent	SNP	G	TCGA-DZ-6131-01A-11D-1961-08	61912435	66612903	23741850	23	34172											
TMEM49	81671	hgsc.bcm.edu	37	17	57812735	57812735	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr17:57812735G>T	ENST00000262291.4	+	3	423	c.113G>T	c.(112-114)cGg>cTg	p.R38L	VMP1_ENST00000539763.1_Intron|VMP1_ENST00000536180.1_5'UTR|VMP1_ENST00000537567.1_5'UTR|VMP1_ENST00000545362.1_Missense_Mutation_p.R38L	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	38					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						AGGAGGGAGCGGGAAGAAAGG	0.398																																																0													95	85	89					17																	57812735		2203	4300	6503	SO:0001583	missense	81671				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.113G>T	chr17.hg19:g.57812735G>T	ENSP00000262291:p.Arg38Leu		B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	hg19	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418001	0.62622	.	.	ENSG00000062716	ENST00000262291;ENST00000545362	.	.	.	5.46	5.46	0.80206	.	0.056181	0.64402	D	0.000001	T	0.70430	0.3223	M	0.71581	2.175	0.80722	D	1	P;P	0.47191	0.891;0.785	P;B	0.47044	0.535;0.43	T	0.74390	-0.3681	9	0.62326	D	0.03	-13.682	19.321	0.94240	0.0:0.0:1.0:0.0	.	38;38	F5H2J3;Q96GC9	.;VMP1_HUMAN	L	38	.	ENSP00000262291:R38L	R	+	2	0	VMP1	55167517	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.973000	0.49264	2.548000	0.85928	0.591000	0.81541	CGG		0.398	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		T	57812735	G	T	57812735	3	4	628	1	0	0	0	0	1	0	0	0	16178	1116	39	4	119	4	TMEM49	17	57812735	Missense_Mutation	SNP	G	TCGA-DZ-6131-01A-11D-1961-08		57812735	23382475	24	34173											
ZNF337	26152	hgsc.bcm.edu	37	20	25656223	25656223	+	Silent	SNP	C	C	A	rs370580651		TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr20:25656223C>A	ENST00000376436.1	-	4	2240	c.1701G>T	c.(1699-1701)tcG>tcT	p.S567S	RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Silent_p.S535S|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.S567S|RP4-694B14.5_ENST00000455791.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S567S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCTTTCCCCCGAGTGTGTCC	0.473																																																1	Substitution - coding silent(1)	lung(1)											89	82	84					20																	25656223		2203	4300	6503	SO:0001819	synonymous_variant	26152				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1701G>T	chr20.hg19:g.25656223C>A			B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	hg19	CCDS13174.1																																																																																				0.473	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			A	25656223	C	A	25656223	2	1	628	1	0	0	0	0	0	0	0	1	17858	639	23	4		4	ZNF337	20	25656223	Silent	SNP	C	TCGA-DZ-6131-01A-11D-1961-08		25656223	37369297	25	34174											
ZNF295	49854	hgsc.bcm.edu	37	21	43413770	43413770	+	Silent	SNP	T	T	C			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr21:43413770T>C	ENST00000310826.5	-	3	618	c.435A>G	c.(433-435)caA>caG	p.Q145Q	ZBTB21_ENST00000398505.3_Silent_p.Q145Q|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Silent_p.Q145Q|ZBTB21_ENST00000398511.3_Silent_p.Q145Q	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	145					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CACTTCTCTTTTGAGAACTGT	0.403																																																0													98	88	91					21																	43413770		2203	4300	6503	SO:0001819	synonymous_variant	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.435A>G	chr21.hg19:g.43413770T>C			Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	ENST00000310826.5	hg19	CCDS13678.1																																																																																				0.403	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		C	43413770	T	C	43413770	2	2	628	1	0	0	0	0	0	0	0	1	17832	1838	64	3		3	ZNF295	21	43413770	Silent	SNP	T	TCGA-DZ-6131-01A-11D-1961-08		43413770	4716125	26	34175											
KRTAP10-10	353333	hgsc.bcm.edu	37	21	46057373	46057373	+	Silent	SNP	C	C	T			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chr21:46057373C>T	ENST00000380095.1	+	1	101	c.39C>T	c.(37-39)tgC>tgT	p.C13C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	13						keratin filament (GO:0045095)		p.C13C(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CCAGCGCCTGCACTGACTCTT	0.652																																																1	Substitution - coding silent(1)	endometrium(1)											104	109	108					21																	46057373		2203	4300	6503	SO:0001819	synonymous_variant	353333			AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.39C>T	chr21.hg19:g.46057373C>T				Silent	SNP	ENST00000380095.1	hg19	CCDS33585.1																																																																																				0.652	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		T	46057373	C	T	46057373	2	4	628	1	0	0	0	0	0	0	0	1	8508	718	25	2		2	KRTAP10-10	21	46057373	Silent	SNP	C	TCGA-DZ-6131-01A-11D-1961-08	2643603	46057373	2072522	27	34176											
FAM47B	170062	hgsc.bcm.edu	37	X	34961454	34961454	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chrX:34961454G>A	ENST00000329357.5	+	1	542	c.506G>A	c.(505-507)cGg>cAg	p.R169Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	169										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTGAGGCCCGGGAGAAGACA	0.592																																																0													36	35	35					X																	34961454		2202	4300	6502	SO:0001583	missense	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.506G>A	chrX.hg19:g.34961454G>A	ENSP00000328307:p.Arg169Gln		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	hg19	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	1.355	-0.590410	0.03799	.	.	ENSG00000189132	ENST00000329357	T	0.14266	2.52	0.843	-0.104	0.13605	.	.	.	.	.	T	0.04952	0.0133	N	0.05259	-0.085	0.09310	N	1	B	0.19073	0.033	B	0.08055	0.003	T	0.45175	-0.9279	8	0.13108	T	0.6	.	.	.	.	.	169	Q8NA70	FA47B_HUMAN	Q	169	ENSP00000328307:R169Q	ENSP00000328307:R169Q	R	+	2	0	FAM47B	34871375	0.070000	0.21116	0.001000	0.08648	0.009000	0.06853	-2.406000	0.01044	-0.099000	0.12263	-0.780000	0.03373	CGG		0.592	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		A	34961454	G	A	34961454	3	1	628	1	0	0	0	0	1	0	0	0	5572	1116	39	1	508	1	FAM47B	23	34961454	Missense_Mutation	SNP	G	TCGA-DZ-6131-01A-11D-1961-08		34961454	120309106	28	34177											
IQSEC2	23096	hgsc.bcm.edu	37	X	53268433	53268433	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6131-01A-11D-1961-08	TCGA-DZ-6131-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	29368ff9-9921-468b-89e7-f004ec2ddb39	3e6c0c90-5ee6-4ec6-ba68-59aae72c362c	g.chrX:53268433C>G	ENST00000375368.5	-	10	3229	c.3029G>C	c.(3028-3030)aGt>aCt	p.S1010T	IQSEC2_ENST00000396435.3_Missense_Mutation_p.S1020T|IQSEC2_ENST00000375365.2_Missense_Mutation_p.S815T			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1010	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTGACGGAAACTGTACGTCAC	0.502											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													114	103	107					X																	53268433		2203	4300	6503	SO:0001583	missense	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3029G>C	chrX.hg19:g.53268433C>G	ENSP00000364517:p.Ser1010Thr	991	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	hg19		.	.	.	.	.	.	.	.	.	.	C	14.06	2.422471	0.43020	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.54071	0.59;0.59;0.59	5.61	5.61	0.85477	.	.	.	.	.	T	0.52240	0.1722	N	0.19112	0.55	0.80722	D	1	B;P	0.39903	0.039;0.694	B;P	0.56434	0.105;0.798	T	0.40001	-0.9586	9	0.02654	T	1	.	17.3443	0.87306	0.0:1.0:0.0:0.0	.	1020;815	Q5JU85-2;Q5JU85-3	.;.	T	1020;1010;815	ENSP00000379712:S1020T;ENSP00000364517:S1010T;ENSP00000364514:S815T	ENSP00000364514:S815T	S	-	2	0	IQSEC2	53285158	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	2.668000	0.46816	2.363000	0.80096	0.511000	0.50034	AGT		0.502	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		G	53268433	C	G	53268433	3	3	628	1	0	0	0	0	1	0	0	0	7820	565	20	4	1427	4	IQSEC2	23	53268433	Missense_Mutation	SNP	C	TCGA-DZ-6131-01A-11D-1961-08	18306979	53268433	102002127	29	34178											
SLC2A5	6518	hgsc.bcm.edu	37	1	9097752	9097752	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:9097752T>C	ENST00000377424.4	-	12	1578	c.1399A>G	c.(1399-1401)Acg>Gcg	p.T467A	SLC2A5_ENST00000536305.1_Missense_Mutation_p.T408A|SLC2A5_ENST00000535586.1_Missense_Mutation_p.T352A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	467					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCTATGAACGTCTTGGCCTTG	0.512																																																0													127	131	130					1																	9097752		2203	4300	6503	SO:0001583	missense	6518			BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.1399A>G	chr1.hg19:g.9097752T>C	ENSP00000366641:p.Thr467Ala		Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	hg19	CCDS99.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661340	0.67700	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.76448	-1.02;-1.02;-1.02	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);	0.047424	0.85682	D	0.000000	D	0.89842	0.6832	M	0.93197	3.39	0.53005	D	0.999969	D;D;D	0.61080	0.971;0.971;0.989	P;P;D	0.64042	0.872;0.872;0.921	D	0.92195	0.5763	10	0.87932	D	0	.	13.3288	0.60475	0.0:0.0:0.0:1.0	.	423;408;467	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	A	467;450;408;352	ENSP00000366641:T467A;ENSP00000440688:T408A;ENSP00000442744:T352A	ENSP00000366641:T467A	T	-	1	0	SLC2A5	9020339	1.000000	0.71417	0.853000	0.33588	0.611000	0.37282	3.992000	0.56980	2.220000	0.72140	0.533000	0.62120	ACG		0.512	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		C	9097752	T	C	9097752	3	2	629	1	0	0	0	0	1	0	0	0	14554	1667	58	3	110	3	SLC2A5	1	9097752	Missense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08		9097752	240152869	1	34179											
ALPL	249	hgsc.bcm.edu	37	1	21902288	21902288	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:21902288G>A	ENST00000374840.3	+	10	1310	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	ALPL_ENST00000374832.1_Missense_Mutation_p.E354K|ALPL_ENST00000539907.1_Missense_Mutation_p.E277K|ALPL_ENST00000374829.1_5'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.E354K|ALPL_ENST00000540617.1_Missense_Mutation_p.E299K|ALPL_ENST00000374830.1_5'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	354			E -> D (in HOPS).		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	TGAGGCGGTGGAGATGGACCG	0.612																																																0													142	136	138					1																	21902288		2203	4300	6503	SO:0001583	missense	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1060G>A	chr1.hg19:g.21902288G>A	ENSP00000363973:p.Glu354Lys		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	hg19	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371272	0.42003	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	4.91	3.99	0.46301	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.056236	0.64402	D	0.000001	D	0.96796	0.8954	M	0.83852	2.665	0.51233	D	0.999917	B;P	0.52692	0.407;0.955	P;P	0.54544	0.507;0.755	D	0.95649	0.8705	10	0.52906	T	0.07	-8.6255	7.1413	0.25558	0.0934:0.1721:0.7345:0.0	.	277;354	B7Z387;P05186	.;PPBT_HUMAN	K	277;299;354;354;354	ENSP00000437674:E277K;ENSP00000442672:E299K;ENSP00000363973:E354K;ENSP00000363965:E354K;ENSP00000394765:E354K	ENSP00000363965:E354K	E	+	1	0	ALPL	21774875	1.000000	0.71417	0.892000	0.35008	0.007000	0.05969	5.646000	0.67916	1.071000	0.40834	-0.291000	0.09656	GAG		0.612	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		A	21902288	G	A	21902288	3	1	629	1	0	0	0	0	1	0	0	0	547	1175	41	2	1094	2	ALPL	1	21902288	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	12804536	21902288	227348333	2	34180											
WASF2	10163	hgsc.bcm.edu	37	1	27739179	27739179	+	Silent	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:27739179A>G	ENST00000430629.2	-	7	926	c.711T>C	c.(709-711)tgT>tgC	p.C237C	WASF2_ENST00000536657.1_Silent_p.C237C	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	237					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CGTTTTCAACACAGCCAATGC	0.488																																																0													153	137	142					1																	27739179		2203	4300	6503	SO:0001819	synonymous_variant	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.711T>C	chr1.hg19:g.27739179A>G			B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	hg19	CCDS304.1																																																																																				0.488	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		G	27739179	A	G	27739179	2	3	629	1	0	0	0	0	0	0	0	1	17258	157	6	3		3	WASF2	1	27739179	Silent	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	5836891	27739179	221511442	3	34181											
TESK2	10420	hgsc.bcm.edu	37	1	45813333	45813333	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:45813333G>A	ENST00000372086.3	-	7	1056	c.656C>T	c.(655-657)tCc>tTc	p.S219F	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.S219F|TESK2_ENST00000538496.1_Missense_Mutation_p.S136F|TESK2_ENST00000341771.6_Missense_Mutation_p.S219F	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CCAGAATGGGGAACCCACCAC	0.473																																																0													112	113	113					1																	45813333		1904	4153	6057	SO:0001583	missense	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.656C>T	chr1.hg19:g.45813333G>A	ENSP00000361158:p.Ser219Phe		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	hg19	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874832	0.91664	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.69926	-0.44;-0.12;-0.44;-0.12	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.104533	0.43110	N	0.000604	D	0.84933	0.5582	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86499	0.1802	10	0.87932	D	0	-17.2903	18.6171	0.91306	0.0:0.0:1.0:0.0	.	219;219	Q96S53-3;Q96S53	.;TESK2_HUMAN	F	219;219;203;219;136	ENSP00000361156:S219F;ENSP00000361158:S219F;ENSP00000343940:S219F;ENSP00000441746:S136F	ENSP00000343940:S219F	S	-	2	0	TESK2	45585920	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.907000	0.87430	2.843000	0.97960	0.585000	0.79938	TCC		0.473	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		A	45813333	G	A	45813333	3	1	629	1	0	0	0	0	1	0	0	0	15773	1174	41	2	1079	2	TESK2	1	45813333	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	18074154	45813333	203437288	4	34182											
TMEM69	51249	hgsc.bcm.edu	37	1	46159260	46159260	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:46159260A>G	ENST00000372025.4	+	3	1584	c.427A>G	c.(427-429)Atc>Gtc	p.I143V	RP11-767N6.7_ENST00000430643.1_RNA|TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	143						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CTTGGGTGGGATCAGATGGGG	0.438																																																0													89	87	88					1																	46159260		1859	4090	5949	SO:0001583	missense	51249			BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 154"	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.427A>G	chr1.hg19:g.46159260A>G	ENSP00000361095:p.Ile143Val		Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	ENST00000372025.4	hg19	CCDS41325.1	.	.	.	.	.	.	.	.	.	.	A	4.400	0.073919	0.08485	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.83	-1.16	0.09678	.	0.588234	0.19061	N	0.123779	T	0.23330	0.0564	N	0.20357	0.565	0.19575	N	0.999966	B	0.10296	0.003	B	0.10450	0.005	T	0.25745	-1.0123	9	0.11794	T	0.64	-0.7606	12.6228	0.56614	0.7619:0.0:0.2381:0.0	.	143	Q5SWH9	TMM69_HUMAN	V	143	.	ENSP00000361095:I143V	I	+	1	0	TMEM69	45931847	0.218000	0.23608	0.138000	0.22173	0.907000	0.53573	0.632000	0.24583	-0.248000	0.09583	-0.415000	0.06103	ATC		0.438	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		G	46159260	A	G	46159260	3	3	629	1	0	0	0	0	1	0	0	0	16203	333	12	3	433	3	TMEM69	1	46159260	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	345927	46159260	203091361	5	34183											
ZFYVE9	9372	hgsc.bcm.edu	37	1	52704507	52704507	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:52704507A>G	ENST00000371591.1	+	3	1549	c.1418A>G	c.(1417-1419)tAt>tGt	p.Y473C	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Y473C|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.Y473C	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	473					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GCAGCAAATTATCTATCTAAT	0.378																																																0													95	101	99					1																	52704507		2203	4299	6502	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1418A>G	chr1.hg19:g.52704507A>G	ENSP00000360647:p.Tyr473Cys		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	hg19	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	7.890	0.732073	0.15507	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.51574	1.19;0.7;1.19;1.19	5.69	4.78	0.61160	.	0.445610	0.20824	N	0.085019	T	0.25005	0.0607	N	0.08118	0	0.20764	N	0.99985	B;B;B	0.33512	0.415;0.01;0.0	B;B;B	0.33392	0.163;0.002;0.0	T	0.09662	-1.0664	10	0.38643	T	0.18	.	6.1713	0.20418	0.1413:0.6538:0.1348:0.0701	.	473;473;473	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	C	473	ENSP00000349737:Y473C;ENSP00000355358:Y473C;ENSP00000287727:Y473C;ENSP00000360647:Y473C	ENSP00000287727:Y473C	Y	+	2	0	ZFYVE9	52477095	1.000000	0.71417	0.843000	0.33291	0.920000	0.55202	1.818000	0.39012	1.420000	0.47138	-0.132000	0.14878	TAT		0.378	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		G	52704507	A	G	52704507	3	3	629	1	0	0	0	0	1	0	0	0	17676	449	16	3	1424	3	ZFYVE9	1	52704507	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	6545247	52704507	196546114	6	34184											
ZYG11B	79699	hgsc.bcm.edu	37	1	53262039	53262039	+	Silent	SNP	T	T	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:53262039T>C	ENST00000294353.6	+	7	1555	c.1410T>C	c.(1408-1410)gcT>gcC	p.A470A	ZYG11B_ENST00000443756.2_Silent_p.A470A|ZYG11B_ENST00000545132.1_Silent_p.A470A	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	470										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TGGCAGTTGCTATCATTTCTA	0.433																																																0													82	76	78					1																	53262039		2203	4300	6503	SO:0001819	synonymous_variant	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1410T>C	chr1.hg19:g.53262039T>C			Q8N2X3|Q9H8L8	Silent	SNP	ENST00000294353.6	hg19	CCDS30717.1																																																																																				0.433	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		C	53262039	T	C	53262039	2	2	629	1	0	0	0	0	0	0	0	1	18258	1509	53	3		3	ZYG11B	1	53262039	Silent	SNP	T	TCGA-DZ-6132-01A-11D-1961-08	557532	53262039	195988582	7	34185											
ODF2L	57489	hgsc.bcm.edu	37	1	86851227	86851227	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:86851227G>A	ENST00000359242.3	-	3	441	c.160C>T	c.(160-162)Ctt>Ttt	p.L54F	ODF2L_ENST00000370566.3_Missense_Mutation_p.L54F|ODF2L_ENST00000317336.7_Missense_Mutation_p.L54F|ODF2L_ENST00000394731.1_Intron|ODF2L_ENST00000294678.2_Missense_Mutation_p.L54F|ODF2L_ENST00000370567.1_Missense_Mutation_p.L54F	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	54						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GCTTCCTTAAGTGTTGCTTCC	0.323																																																0													87	84	85					1																	86851227		2203	4298	6501	SO:0001583	missense	57489				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.160C>T	chr1.hg19:g.86851227G>A	ENSP00000359600:p.Leu54Phe		A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	hg19	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718586	0.30503	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000317336;ENST00000370567;ENST00000294678;ENST00000465959	T;T;T;T;T	0.39056	1.1;1.1;1.15;1.15;1.12	5.4	0.554	0.17241	.	0.523188	0.20488	N	0.091342	T	0.06280	0.0162	N	0.04768	-0.165	0.44417	D	0.997339	B;B;B;B;B	0.24043	0.001;0.027;0.008;0.011;0.096	B;B;B;B;B	0.21360	0.004;0.013;0.012;0.009;0.034	T	0.15752	-1.0426	10	0.38643	T	0.18	0.4325	1.1465	0.01776	0.2214:0.1715:0.4328:0.1743	.	54;54;54;54;54	B4E037;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;.;.;ODF2L_HUMAN	F	54	ENSP00000359597:L54F;ENSP00000359600:L54F;ENSP00000320165:L54F;ENSP00000359598:L54F;ENSP00000294678:L54F	ENSP00000294678:L54F	L	-	1	0	ODF2L	86623815	0.325000	0.24660	0.872000	0.34217	0.966000	0.64601	0.460000	0.21924	0.196000	0.20367	0.650000	0.86243	CTT		0.323	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			A	86851227	G	A	86851227	3	1	629	1	0	0	0	0	1	0	0	0	10830	1029	36	2	1990	2	ODF2L	1	86851227	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	33589188	86851227	162399394	8	34186											
ARHGAP29	9411	hgsc.bcm.edu	37	1	94639942	94639942	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:94639942A>G	ENST00000260526.6	-	23	3451	c.3269T>C	c.(3268-3270)cTa>cCa	p.L1090P	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1090					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTTGGCAGTTAGGCTGTTTTG	0.418																																																0													228	214	218					1																	94639942		2203	4300	6503	SO:0001583	missense	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3269T>C	chr1.hg19:g.94639942A>G	ENSP00000260526:p.Leu1090Pro		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	hg19	CCDS748.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.660169	0.47572	.	.	ENSG00000137962	ENST00000260526	T	0.24723	1.84	5.73	-1.98	0.07480	.	1.632400	0.04169	N	0.324470	T	0.04497	0.0123	L	0.29908	0.895	0.09310	N	1	P	0.50710	0.938	B	0.33799	0.17	T	0.21827	-1.0234	10	0.48119	T	0.1	3.2259	2.7638	0.05314	0.5497:0.1174:0.2307:0.1023	.	1090	Q52LW3	RHG29_HUMAN	P	1090	ENSP00000260526:L1090P	ENSP00000260526:L1090P	L	-	2	0	ARHGAP29	94412530	0.041000	0.20044	0.000000	0.03702	0.391000	0.30476	0.816000	0.27267	-0.171000	0.10797	0.482000	0.46254	CTA		0.418	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		G	94639942	A	G	94639942	3	3	629	1	0	0	0	0	1	0	0	0	878	420	15	3	520	3	ARHGAP29	1	94639942	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	7788715	94639942	154610679	9	34187											
GSTM1	2944	hgsc.bcm.edu	37	1	110233169	110233169	+	Missense_Mutation	SNP	T	T	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:110233169T>G	ENST00000309851.5	+	7	604	c.550T>G	c.(550-552)Ttc>Gtc	p.F184V	GSTM1_ENST00000369819.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000483399.2_Intron|GSTM1_ENST00000349334.3_Intron|AC000032.2_ENST00000562538.1_RNA|GSTM2_ENST00000369831.2_Intron|GSTM1_ENST00000490021.2_Intron|GSTM1_ENST00000369823.2_Missense_Mutation_p.F203V	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	184	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Azathioprine(DB00993)|Busulfan(DB01008)|Carboplatin(DB00958)|Cisplatin(DB00515)|Glutathione(DB00143)|Oxaliplatin(DB00526)	TCTGAAGGACTTCATCTCCCG	0.488									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																							0													209	116	148					1																	110233169		2158	4209	6367	SO:0001583	missense	2944	Familial Cancer Database	incl.: Familial Head and Neck Cancer; ;AIMAH, Cushing disease, Adrenal, Familial	BC036805	CCDS809.1, CCDS810.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134184	ENSG00000134184	2.5.1.18	"Glutathione S-transferases / Soluble"	4632	protein-coding gene	gene with protein product		138350	"glutathione S-transferase M1"	GST1			Standard	NM_000561		Approved	MU, H-B	uc001dyk.3	P09488	OTTHUMG00000011635	ENST00000309851.5:c.550T>G	chr1.hg19:g.110233169T>G	ENSP00000311469:p.Phe184Val		Q5GHG0|Q6FH88|Q8TC98|Q9UC96	Missense_Mutation	SNP	ENST00000309851.5	hg19	CCDS809.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.037761	0.35989	.	.	ENSG00000134184	ENST00000369823;ENST00000309851	T;T	0.02345	4.33;4.33	3.53	3.53	0.40419	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.149445	0.43416	U	0.000564	T	0.14056	0.0340	H	0.96269	3.795	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.01810	-1.1269	10	0.87932	D	0	.	9.98	0.41809	0.0:0.0:0.0:1.0	.	184	P09488	GSTM1_HUMAN	V	203;184	ENSP00000358838:F203V;ENSP00000311469:F184V	ENSP00000311469:F184V	F	+	1	0	GSTM1	110034692	1.000000	0.71417	0.979000	0.43373	0.246000	0.25737	3.033000	0.49743	1.594000	0.50039	0.459000	0.35465	TTC		0.488	GSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032151.2	NM_000561		G	110233169	T	G	110233169	3	3	629	1	0	0	0	0	1	0	0	0	6839	1609	56	5	576	5	GSTM1	1	110233169	Missense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08	15593227	110233169	139017452	10	34188											
ATP1A2	477	hgsc.bcm.edu	37	1	160105252	160105252	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:160105252G>A	ENST00000361216.3	+	16	2233	c.2144G>A	c.(2143-2145)gGg>gAg	p.G715E	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G715E	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	715			G -> R (in FHM2; de novo mutation in a sporadic case). {ECO:0000269|PubMed:21352219}.		adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACGGGTGACGGGGTGAACGAC	0.602																																																0													170	123	139					1																	160105252		2203	4300	6503	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2144G>A	chr1.hg19:g.160105252G>A	ENSP00000354490:p.Gly715Glu		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	hg19	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.642964|4.642964	0.87859|0.87859	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|D	0.99483|0.99499	-5.99;-5.99|-6.02	4.31|4.31	4.31|4.31	0.51392|0.51392	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99806|0.99806	0.9916|0.9916	H|H	0.99182|0.99182	4.46|4.46	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.96615|0.96615	0.9455|0.9455	10|8	0.87932|0.87932	D|D	0|0	.|.	16.0832|16.0832	0.81020|0.81020	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	615;715|.	F5GXJ7;P50993|.	.;AT1A2_HUMAN|.	E|R	715;715;418|426	ENSP00000354490:G715E;ENSP00000376066:G715E|ENSP00000411705:G426R	ENSP00000354490:G715E|ENSP00000411705:G426R	G|G	+|+	2|1	0|0	ATP1A2|ATP1A2	158371876|158371876	1.000000|1.000000	0.71417|0.71417	0.897000|0.897000	0.35233|0.35233	0.889000|0.889000	0.51656|0.51656	9.593000|9.593000	0.98250|0.98250	2.383000|2.383000	0.81215|0.81215	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		A	160105252	G	A	160105252	3	1	629	1	0	0	0	0	1	0	0	0	1129	1232	43	2	2206	2	ATP1A2	1	160105252	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	49872083	160105252	89145369	11	34189											
NME7	29922	hgsc.bcm.edu	37	1	169102046	169102046	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:169102046A>G	ENST00000367811.3	-	12	1364	c.1108T>C	c.(1108-1110)Ttc>Ctc	p.F370L	NME7_ENST00000472647.1_Missense_Mutation_p.F334L	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	370					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					ATCTTGAAGAAGTATTGAACC	0.388																																																0													122	110	114					1																	169102046		2203	4300	6503	SO:0001583	missense	29922			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.1108T>C	chr1.hg19:g.169102046A>G	ENSP00000356785:p.Phe370Leu		A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	hg19	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943147	0.53079	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55234	0.53;0.53	6.17	6.17	0.99709	.	0.557913	0.21023	N	0.081462	T	0.50837	0.1639	M	0.84683	2.71	0.45995	D	0.998806	B	0.20988	0.05	B	0.31686	0.134	T	0.54132	-0.8339	9	0.34782	T	0.22	-13.3948	16.8222	0.85835	1.0:0.0:0.0:0.0	.	370	Q9Y5B8	NDK7_HUMAN	L	334;370	ENSP00000433341:F334L;ENSP00000356785:F370L	ENSP00000356785:F370L	F	-	1	0	NME7	167368670	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.416000	0.90244	2.371000	0.80710	0.533000	0.62120	TTC		0.388	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		G	169102046	A	G	169102046	3	3	629	1	0	0	0	0	1	0	0	0	10498	72	3	3	26	3	NME7	1	169102046	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	8996794	169102046	80148575	12	34190											
PPFIA4	8497	hgsc.bcm.edu	37	1	203036824	203036824	+	Splice_Site	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:203036824A>G	ENST00000447715.2	+	31	3427	c.2986A>G	c.(2986-2988)Acc>Gcc	p.T996A	PPFIA4_ENST00000295706.4_Splice_Site_p.T503A|PPFIA4_ENST00000414050.2_Splice_Site_p.T725A|PPFIA4_ENST00000599966.1_Splice_Site_p.T503A|PPFIA4_ENST00000367240.2_Splice_Site_p.T997A|PPFIA4_ENST00000272198.6_Splice_Site_p.T512A			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	996	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGCCTGCAGAACCAGTCTTCA	0.552																																																0													78	84	82					1																	203036824		2156	4266	6422	SO:0001630	splice_region_variant	8497			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2985-1A>G	chr1.hg19:g.203036824A>G			A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	hg19		.	.	.	.	.	.	.	.	.	.	A	10.88	1.474689	0.26511	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	3.89	2.72	0.32119	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.349867	0.20011	U	0.101127	T	0.27933	0.0688	N	0.11892	0.195	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.001	T	0.04930	-1.0917	10	0.44086	T	0.13	-16.0337	9.5608	0.39369	0.9138:0.0:0.0862:0.0	.	725;996;198;503;512	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	A	997;996;503;725;512	ENSP00000356209:T997A;ENSP00000402576:T996A;ENSP00000295706:T503A;ENSP00000400379:T725A;ENSP00000272198:T512A	ENSP00000272198:T512A	T	+	1	0	PPFIA4	201303447	0.971000	0.33674	1.000000	0.80357	0.968000	0.65278	2.234000	0.43035	0.618000	0.30179	0.397000	0.26171	ACC		0.552	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	Missense_Mutation	G	203036824	A	G	203036824	5	3	629	1	0	0	0	0	0	0	1	0	12314	57	2	3	1584	3	PPFIA4	1	203036824	Splice_Site	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	33934778	203036824	46213797	13	34191											
C1orf55	163859	hgsc.bcm.edu	37	1	226175877	226175877	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr1:226175877G>T	ENST00000272091.7	-	6	872	c.854C>A	c.(853-855)cCg>cAg	p.P285Q		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	285																	GTCAGTCACCGGGATCTGCAG	0.502																																																0													175	164	168					1																	226175877		1943	4144	6087	SO:0001583	missense	163859			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 55"	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.854C>A	chr1.hg19:g.226175877G>T	ENSP00000272091:p.Pro285Gln		A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	hg19	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653524	0.47362	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.53206	0.78;0.63	6.05	0.9	0.19278	.	0.513077	0.23622	N	0.046231	T	0.34135	0.0887	L	0.59436	1.845	0.09310	N	1	B;B	0.23591	0.088;0.021	B;B	0.25614	0.062;0.017	T	0.18085	-1.0348	10	0.21540	T	0.41	-0.685	1.397	0.02263	0.2086:0.1076:0.3867:0.2972	.	273;285	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	Q	285;273;190	ENSP00000272091:P285Q;ENSP00000355782:P190Q	ENSP00000272091:P285Q	P	-	2	0	C1orf55	224242500	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.191000	0.17076	-0.069000	0.12931	0.650000	0.86243	CCG		0.502	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		T	226175877	G	T	226175877	3	4	629	1	0	0	0	0	1	0	0	0	2049	1116	39	4	509	4	C1orf55	1	226175877	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	23139053	226175877	23074744	14	34192											
GMPPA	29926	hgsc.bcm.edu	37	2	220370077	220370077	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr2:220370077T>C	ENST00000358215.3	+	8	1117	c.748T>C	c.(748-750)Tcc>Ccc	p.S250P	GMPPA_ENST00000313597.5_Missense_Mutation_p.S250P|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.S250P|GMPPA_ENST00000373917.3_Missense_Mutation_p.S250P|GMPPA_ENST00000341142.3_Missense_Mutation_p.S250P	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	250					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCAGATCAAGTCCGCAGGGTA	0.607																																																0													64	65	65					2																	220370077		2203	4300	6503	SO:0001583	missense	29926			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.748T>C	chr2.hg19:g.220370077T>C	ENSP00000350949:p.Ser250Pro		A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	hg19	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	t	25.4	4.632235	0.87660	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000435316;ENST00000341142	D;D;D;D;T;D	0.94650	-3.48;-3.48;-3.48;-3.48;1.84;-3.48	4.9	4.9	0.64082	.	0.271361	0.37530	N	0.002048	D	0.96592	0.8888	M	0.73962	2.25	0.80722	D	1	D;D	0.71674	0.998;0.97	D;P	0.66847	0.947;0.737	D	0.96980	0.9714	10	0.66056	D	0.02	-23.7265	14.211	0.65764	0.0:0.0:0.0:1.0	.	250;250	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	P	250;250;250;250;215;250	ENSP00000315925:S250P;ENSP00000363027:S250P;ENSP00000350949:S250P;ENSP00000363016:S250P;ENSP00000411060:S215P;ENSP00000340760:S250P	ENSP00000315925:S250P	S	+	1	0	GMPPA	220078321	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.745000	0.85046	1.828000	0.53243	0.529000	0.55759	TCC		0.607	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		C	220370077	T	C	220370077	3	2	629	1	0	0	0	0	1	0	0	0	6496	1667	58	3	774	3	GMPPA	2	220370077	Missense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08		220370077	22829296	15	34193											
CAMK1	8536	hgsc.bcm.edu	37	3	9801228	9801228	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:9801228T>C	ENST00000256460.3	-	10	1033	c.856A>G	c.(856-858)Atc>Gtc	p.I286V	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	286	Autoinhibitory domain.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GACTGGTGGATATTCTTATCT	0.537																																																0													179	171	174					3																	9801228		2203	4300	6503	SO:0001583	missense	8536			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.856A>G	chr3.hg19:g.9801228T>C	ENSP00000256460:p.Ile286Val		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	hg19	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.415377|4.415377	0.83449|0.83449	.|.	.|.	ENSG00000134072|ENSG00000134072	ENST00000256460|ENST00000421120	T|.	0.39056|.	1.1|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80407|0.80407	0.4617|0.4617	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	P;P|.	0.48162|.	0.906;0.906|.	P;P|.	0.45099|.	0.469;0.469|.	T|T	0.83025|0.83025	-0.0165|-0.0165	10|5	0.59425|.	D|.	0.04|.	-11.1309|-11.1309	16.0971|16.0971	0.81132|0.81132	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	286;286|.	Q14012;B0YIY3|.	KCC1A_HUMAN;.|.	V|C	286|132	ENSP00000256460:I286V|.	ENSP00000256460:I286V|.	I|Y	-|-	1|2	0|0	CAMK1|CAMK1	9776228|9776228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.589000|7.589000	0.82641|0.82641	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	ATC|TAT		0.537	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		C	9801228	T	C	9801228	3	2	629	1	0	0	0	0	1	0	0	0	2598	1406	49	3	268	3	CAMK1	3	9801228	Missense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08		9801228	188221202	16	34194											
GPD1L	23171	hgsc.bcm.edu	37	3	32169609	32169609	+	Missense_Mutation	SNP	A	A	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:32169609A>C	ENST00000282541.5	+	2	290	c.89A>C	c.(88-90)aAa>aCa	p.K30T		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	30					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						AATGTCAAGAAACTTCAGAAA	0.368																																																0													59	59	59					3																	32169609		2203	4300	6503	SO:0001583	missense	23171			D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.89A>C	chr3.hg19:g.32169609A>C	ENSP00000282541:p.Lys30Thr		A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	ENST00000282541.5	hg19	CCDS33729.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807729	0.31961	.	.	ENSG00000152642	ENST00000282541;ENST00000425459	T;T	0.58652	0.32;1.2	4.8	3.62	0.41486	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.435694	0.28257	N	0.016007	T	0.52917	0.1764	M	0.70595	2.14	0.29089	N	0.882201	B	0.06786	0.001	B	0.20184	0.028	T	0.52697	-0.8541	10	0.46703	T	0.11	-9.553	6.5277	0.22310	0.6226:0.3005:0.0769:0.0	.	30	Q8N335	GPD1L_HUMAN	T	30	ENSP00000282541:K30T;ENSP00000408770:K30T	ENSP00000282541:K30T	K	+	2	0	GPD1L	32144613	0.036000	0.19791	0.834000	0.33040	0.984000	0.73092	2.830000	0.48136	0.938000	0.37419	0.459000	0.35465	AAA		0.368	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		C	32169609	A	C	32169609	3	2	629	1	0	0	0	0	1	0	0	0	6607	14	1	5	95	5	GPD1L	3	32169609	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	22368381	32169609	165852821	17	34195											
RPL24	6152	hgsc.bcm.edu	37	3	101401697	101401698	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:101401697_101401698insA	ENST00000394077.3	-	4	351_352	c.246_247insT	c.(244-249)attactfs	p.T83fs	RPL24_ENST00000469605.1_Frame_Shift_Ins_p.T83fs|RPL24_ENST00000495401.1_Frame_Shift_Ins_p.T83fs	NM_000986.3	NP_000977.1	P83731	RL24_HUMAN	ribosomal protein L24	83					cellular protein metabolic process (GO:0044267)|exit from mitosis (GO:0010458)|gene expression (GO:0010467)|mitotic cell cycle checkpoint (GO:0007093)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|optic nerve development (GO:0021554)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|ribosomal large subunit assembly (GO:0000027)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(2)|urinary_tract(1)	4						GATGCACCAGTAATGGCCCTCT	0.436																																																0																																										SO:0001589	frameshift_variant	6152			AB007177	CCDS33809.1	3q12	2011-04-06			ENSG00000114391	ENSG00000114391		"L ribosomal proteins"	10325	protein-coding gene	gene with protein product		604180				9582194	Standard	NM_000986		Approved	L24	uc003dvh.1	P83731	OTTHUMG00000159146	ENST00000394077.3:c.247dupT	chr3.hg19:g.101401699_101401699dupA	ENSP00000377640:p.Thr83fs		B2R4Y3|P38663|Q6IBS3	Frame_Shift_Ins	INS	ENST00000394077.3	hg19	CCDS33809.1																																																																																				0.436	RPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353487.1	NM_000986		A	101401698	-	A	101401697	7	5	629	1	0	1	1	0	0	0	0	0	13578	1638	57	0	238	0	RPL24	3	101401697	Frame_Shift_Ins	INS	-	TCGA-DZ-6132-01A-11D-1961-08	69232088	101401697	96620733	18	34196											
FAM55C	91775	hgsc.bcm.edu	37	3	101540473	101540473	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:101540473C>G	ENST00000491511.2	+	8	2311	c.1355C>G	c.(1354-1356)cCt>cGt	p.P452R	NXPE3_ENST00000422132.1_Missense_Mutation_p.P452R|NXPE3_ENST00000273347.5_Missense_Mutation_p.P452R|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000477909.1_Missense_Mutation_p.P452R	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	452						extracellular region (GO:0005576)											AGCACCTTCCCTTTGGAAGTG	0.552																																																0													113	99	104					3																	101540473		2203	4300	6503	SO:0001583	missense	91775			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1355C>G	chr3.hg19:g.101540473C>G	ENSP00000417485:p.Pro452Arg		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	hg19	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070163	0.93950	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	6.03	6.03	0.97812	.	0.044822	0.85682	D	0.000000	T	0.67325	0.2881	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73017	-0.4115	10	0.87932	D	0	-17.0676	20.5568	0.99304	0.0:1.0:0.0:0.0	.	452	Q969Y0	FA55C_HUMAN	R	452	ENSP00000273347:P452R;ENSP00000417485:P452R;ENSP00000418369:P452R;ENSP00000396421:P452R	ENSP00000273347:P452R	P	+	2	0	FAM55C	103023163	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.747000	0.85070	2.861000	0.98227	0.655000	0.94253	CCT		0.552	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		G	101540473	C	G	101540473	3	3	629	1	0	0	0	0	1	0	0	0	5588	681	24	4	1373	4	FAM55C	3	101540473	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	138776	101540473	96481957	19	34197											
MYH15	22989	hgsc.bcm.edu	37	3	108107907	108107918	+	In_Frame_Del	DEL	TTCCAGTTCACG	TTCCAGTTCACG	-	rs143417195	byFrequency	TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	TTCCAGTTCACG	TTCCAGTTCACG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:108107907_108107918delTTCCAGTTCACG	ENST00000273353.3	-	39	5550_5561	c.5494_5505delCGTGAACTGGAA	c.(5494-5505)cgtgaactggaadel	p.RELE1832del		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1832						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1832S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCAGTTCACCTTCCAGTTCACGAACCTGCAAC	0.524																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5494_5505delCGTGAACTGGAA	chr3.hg19:g.108107907_108107918delTTCCAGTTCACG	ENSP00000273353:p.Arg1832_Glu1835del			In_Frame_Del	DEL	ENST00000273353.3	hg19	CCDS43127.1																																																																																				0.524	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		-	108107918	TTCCAGTTCACG	-	108107907	7	5	629	1	0	1	0	1	0	0	0	0	10036	1606	56	0	351	0	MYH15	3	108107907	In_Frame_Del	DEL	TTCCAGTTCACG	TCGA-DZ-6132-01A-11D-1961-08	6567434	108107907	89914523	20	34198											
POLQ	10721	hgsc.bcm.edu	37	3	121260288	121260288	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:121260288G>A	ENST00000264233.5	-	3	510	c.382C>T	c.(382-384)Ctt>Ttt	p.L128F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	128	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCAAAATAAGTAATTCTGCC	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											0													145	164	157					3																	121260288		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.382C>T	chr3.hg19:g.121260288G>A	ENSP00000264233:p.Leu128Phe		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	hg19	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569858	0.86542	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.60672	0.17	5.74	5.74	0.90152	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.275715	0.37261	N	0.002169	T	0.79787	0.4506	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81741	-0.0794	10	0.87932	D	0	.	19.9346	0.97133	0.0:0.0:1.0:0.0	.	128	O75417	DPOLQ_HUMAN	F	128;263	ENSP00000264233:L128F	ENSP00000264233:L128F	L	-	1	0	POLQ	122742978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.652000	0.54439	2.712000	0.92718	0.563000	0.77884	CTT		0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		A	121260288	G	A	121260288	3	1	629	1	0	0	0	0	1	0	0	0	12210	1029	36	2	7502	2	POLQ	3	121260288	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	13152381	121260288	76762142	21	34199											
ATR	545	hgsc.bcm.edu	37	3	142284995	142284995	+	Missense_Mutation	SNP	C	C	T	rs200407265		TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:142284995C>T	ENST00000350721.4	-	3	381	c.260G>A	c.(259-261)aGt>aAt	p.S87N	ATR_ENST00000383101.3_Missense_Mutation_p.S87N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	87					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATGGCTTCCACTCACATTTAC	0.413								Other conserved DNA damage response genes																																								0													107	101	103					3																	142284995		2203	4300	6503	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.260G>A	chr3.hg19:g.142284995C>T	ENSP00000343741:p.Ser87Asn		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	2.407	-0.336336	0.05278	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.30448	1.53;1.53	5.53	0.0727	0.14388	.	1.113090	0.06757	N	0.781079	T	0.07548	0.0190	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36553	-0.9743	10	0.02654	T	1	-9.1875	2.5644	0.04779	0.1129:0.2236:0.1159:0.5476	.	87	Q13535	ATR_HUMAN	N	87	ENSP00000343741:S87N;ENSP00000372581:S87N	ENSP00000343741:S87N	S	-	2	0	ATR	143767685	0.931000	0.31567	1.000000	0.80357	0.976000	0.68499	0.080000	0.14802	0.369000	0.24510	-0.414000	0.06135	AGT		0.413	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		T	142284995	C	T	142284995	3	4	629	1	0	0	0	0	1	0	0	0	1204	565	20	2	7854	2	ATR	3	142284995	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	21024707	142284995	55737435	22	34200											
SLC7A14	57709	hgsc.bcm.edu	37	3	170201153	170201154	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:170201153_170201154insA	ENST00000231706.5	-	6	1379_1380	c.1064_1065insT	c.(1063-1065)ttcfs	p.F355fs	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	355					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCGGCATCGGGAAGAGGGACCC	0.54											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001589	frameshift_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1065dupT	chr3.hg19:g.170201155_170201155dupA	ENSP00000231706:p.Phe355fs	1883	B3KV33|Q9HCF9	Frame_Shift_Ins	INS	ENST00000231706.5	hg19	CCDS33892.1																																																																																				0.54	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		A	170201154	-	A	170201153	7	5	629	1	0	1	1	0	0	0	0	0	14702	1165	41	0	1262	0	SLC7A14	3	170201153	Frame_Shift_Ins	INS	-	TCGA-DZ-6132-01A-11D-1961-08	27916158	170201153	27821277	23	34201											
LAMP3	27074	hgsc.bcm.edu	37	3	182870222	182870222	+	Silent	SNP	G	G	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr3:182870222G>T	ENST00000265598.3	-	3	1084	c.829C>A	c.(829-831)Cga>Aga	p.R277R	LAMP3_ENST00000466939.1_Silent_p.R253R	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	277					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.R277R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TTGGATTTTCGGGTGCCACAG	0.458																																																1	Substitution - coding silent(1)	lung(1)											174	186	182					3																	182870222		2203	4300	6503	SO:0001819	synonymous_variant	27074			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.829C>A	chr3.hg19:g.182870222G>T			D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	hg19	CCDS3242.1																																																																																				0.458	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			T	182870222	G	T	182870222	2	4	629	1	0	0	0	0	0	0	0	1	8621	1124	39	4		4	LAMP3	3	182870222	Silent	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	12669069	182870222	15152208	24	34202											
N4BP2	55728	hgsc.bcm.edu	37	4	40122682	40122682	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:40122682C>G	ENST00000261435.6	+	9	3367	c.2951C>G	c.(2950-2952)cCa>cGa	p.P984R		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	984					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AATAGTGCACCAACTGTTTCT	0.443																																																0													84	80	82					4																	40122682		2203	4300	6503	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2951C>G	chr4.hg19:g.40122682C>G	ENSP00000261435:p.Pro984Arg		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	hg19	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	3.483	-0.105433	0.06967	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.21543	2.0	5.1	4.25	0.50352	.	0.600314	0.17354	N	0.177287	T	0.22898	0.0553	L	0.54323	1.7	0.09310	N	1	D;P	0.53151	0.958;0.93	P;B	0.45506	0.483;0.289	T	0.11421	-1.0588	10	0.48119	T	0.1	0.0045	8.0754	0.30714	0.0:0.8201:0.0:0.1799	.	984;984	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	R	984;904	ENSP00000261435:P984R	ENSP00000261435:P984R	P	+	2	0	N4BP2	39799077	0.020000	0.18652	0.005000	0.12908	0.002000	0.02628	2.644000	0.46613	1.513000	0.48852	0.655000	0.94253	CCA		0.443	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		G	40122682	C	G	40122682	3	3	629	1	0	0	0	0	1	0	0	0	10112	594	21	4	2977	4	N4BP2	4	40122682	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08		40122682	151031594	25	34203											
SCD5	79966	hgsc.bcm.edu	37	4	83557889	83557889	+	Silent	SNP	G	G	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:83557889G>C	ENST00000319540.4	-	4	976	c.657C>G	c.(655-657)tcC>tcG	p.S219S		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	219					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCAAGAAGTAGGAATTCCACA	0.537																																																0													108	95	100					4																	83557889		2203	4300	6503	SO:0001819	synonymous_variant	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.657C>G	chr4.hg19:g.83557889G>C			B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	ENST00000319540.4	hg19	CCDS34024.1																																																																																				0.537	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		C	83557889	G	C	83557889	2	2	629	1	0	0	0	0	0	0	0	1	13893	987	35	4		4	SCD5	4	83557889	Silent	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	43435207	83557889	107596387	26	34204											
ANK2	287	hgsc.bcm.edu	37	4	114195785	114195785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:114195785delG	ENST00000357077.4	+	15	1716	c.1663delG	c.(1663-1665)gccfs	p.A555fs	ANK2_ENST00000264366.6_Frame_Shift_Del_p.A555fs|ANK2_ENST00000506722.1_Frame_Shift_Del_p.A534fs|ANK2_ENST00000394537.3_Frame_Shift_Del_p.A555fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	555					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCAGGAGCAGCCCACTCCTT	0.517																																																0													80	78	79					4																	114195785		2203	4300	6503	SO:0001589	frameshift_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1663delG	chr4.hg19:g.114195785delG	ENSP00000349588:p.Ala555fs		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL	ENST00000357077.4	hg19	CCDS3702.1																																																																																				0.517	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		-	114195785	G	-	114195785	7	5	629	1	0	1	0	1	0	0	0	0	621	971	34	0	1746	0	ANK2	4	114195785	Frame_Shift_Del	DEL	G	TCGA-DZ-6132-01A-11D-1961-08	30637896	114195785	76958491	27	34205											
KIAA0922	23240	hgsc.bcm.edu	37	4	154557454	154557454	+	Splice_Site	SNP	C	C	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:154557454C>T	ENST00000409663.3	+	35	4608	c.4556C>T	c.(4555-4557)cCc>cTc	p.P1519L	KIAA0922_ENST00000440693.1_Splice_Site_p.P1436L|KIAA0922_ENST00000409959.3_Splice_Site_p.P1520L	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1519						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ATACTTCAGCCCTACCTCACA	0.413																																																0													76	85	82					4																	154557454		2203	4300	6503	SO:0001630	splice_region_variant	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4555-1C>T	chr4.hg19:g.154557454C>T			B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	hg19	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298160	0.81025	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.31510	1.76;1.49;1.75;1.51	5.93	5.07	0.68467	.	0.056199	0.64402	D	0.000001	T	0.50034	0.1592	L	0.52573	1.65	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.995	D;D;P	0.68621	0.959;0.934;0.86	T	0.53129	-0.8482	10	0.87932	D	0	-12.4672	16.3753	0.83383	0.133:0.867:0.0:0.0	.	1436;1520;1519	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	L	1519;1436;1520;1297	ENSP00000386574:P1519L;ENSP00000409663:P1436L;ENSP00000386787:P1520L;ENSP00000240487:P1297L	ENSP00000240487:P1297L	P	+	2	0	KIAA0922	154776904	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.205000	0.77881	1.466000	0.48025	0.655000	0.94253	CCC		0.413	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	Missense_Mutation	T	154557454	C	T	154557454	5	4	629	1	0	0	0	0	0	0	1	0	8203	637	22	2	4697	2	KIAA0922	4	154557454	Splice_Site	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	40361669	154557454	36596822	28	34206											
FNIP2	57600	hgsc.bcm.edu	37	4	159756556	159756556	+	Splice_Site	SNP	G	G	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr4:159756556G>A	ENST00000264433.6	+	7	730		c.e7-1		FNIP2_ENST00000379346.3_Splice_Site	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2						intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTTTATCTTAGCACACAGCAC	0.383																																																0													258	258	258					4																	159756556		1966	4155	6121	SO:0001630	splice_region_variant	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.656-1G>A	chr4.hg19:g.159756556G>A			Q05DC3|Q96I31|Q9H994	Splice_Site	SNP	ENST00000264433.6	hg19	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225241	0.79576	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346;ENST00000504715	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2857	0.98533	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FNIP2	159976006	1.000000	0.71417	0.995000	0.50966	0.794000	0.44872	9.224000	0.95209	2.803000	0.96430	0.650000	0.86243	.		0.383	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840	Intron	A	159756556	G	A	159756556	5	1	629	1	0	0	0	0	0	0	1	0	5978	985	34	2	681	2	FNIP2	4	159756556	Splice_Site	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	5199102	159756556	31397720	29	34207											
LIFR	3977	hgsc.bcm.edu	37	5	38489203	38489203	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr5:38489203G>A	ENST00000263409.4	-	16	2474	c.2312C>T	c.(2311-2313)tCt>tTt	p.S771F	LIFR_ENST00000503088.1_5'Flank|LIFR_ENST00000453190.2_Missense_Mutation_p.S771F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	771	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CCTCATCTTAGATGTGTCTCT	0.343			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													80	84	83					5																	38489203		2203	4300	6503	SO:0001583	missense	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2312C>T	chr5.hg19:g.38489203G>A	ENSP00000263409:p.Ser771Phe		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	hg19	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037720	0.35989	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.53423	0.62;0.62	5.78	4.92	0.64577	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.715180	0.14869	N	0.293661	T	0.46367	0.1389	M	0.76838	2.35	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.46624	-0.9178	10	0.09084	T	0.74	-6.9518	11.4001	0.49864	0.1549:0.0:0.8451:0.0	.	771	P42702	LIFR_HUMAN	F	771	ENSP00000263409:S771F;ENSP00000398368:S771F	ENSP00000263409:S771F	S	-	2	0	LIFR	38524960	0.985000	0.35326	0.823000	0.32752	0.952000	0.60782	2.593000	0.46180	1.456000	0.47831	0.650000	0.86243	TCT		0.343	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		A	38489203	G	A	38489203	3	1	629	1	0	0	0	0	1	0	0	0	8782	942	33	2	1001	2	LIFR	5	38489203	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08		38489203	142426057	30	34208											
PCDHGC4	56098	hgsc.bcm.edu	37	5	140864817	140864817	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr5:140864817A>G	ENST00000306593.1	+	1	77	c.77A>G	c.(76-78)tAc>tGc	p.Y26C	PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	26					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGGGTTACGTTTGTGGG	0.542																																																0													61	64	63					5																	140864817		2203	4300	6503	SO:0001583	missense	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.77A>G	chr5.hg19:g.140864817A>G	ENSP00000306918:p.Tyr26Cys		Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	hg19	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	A	8.646	0.897050	0.17686	.	.	ENSG00000242419	ENST00000306593	T	0.46819	0.86	4.81	4.81	0.61882	.	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.001	B;B	0.16722	0.016;0.004	T	0.07888	-1.0749	9	0.38643	T	0.18	.	6.6967	0.23203	0.6868:0.231:0.0822:0.0	.	26;26	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	C	26	ENSP00000306918:Y26C	ENSP00000306918:Y26C	Y	+	2	0	PCDHGC4	140845001	0.831000	0.29352	0.975000	0.42487	0.979000	0.70002	2.204000	0.42761	2.012000	0.59069	0.459000	0.35465	TAC		0.542	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		G	140864817	A	G	140864817	3	3	629	1	0	0	0	0	1	0	0	0	11572	391	14	3	79	3	PCDHGC4	5	140864817	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	102375614	140864817	40050443	31	34209											
SYNPO	11346	hgsc.bcm.edu	37	5	150027927	150027927	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr5:150027927delA	ENST00000394243.1	+	3	1196	c.822delA	c.(820-822)ctafs	p.L274fs	SYNPO_ENST00000519664.1_Frame_Shift_Del_p.L30fs|SYNPO_ENST00000307662.4_Frame_Shift_Del_p.L30fs|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000522122.1_Frame_Shift_Del_p.L274fs	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	274					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTTTATCTAAAGGAGAATG	0.602																																																0													82	91	88					5																	150027927		2203	4300	6503	SO:0001589	frameshift_variant	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.822delA	chr5.hg19:g.150027927delA	ENSP00000377789:p.Leu274fs		A5PKZ8|D3DQG8|O15271|Q9UPX1	Frame_Shift_Del	DEL	ENST00000394243.1	hg19	CCDS54937.1																																																																																				0.602	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		-	150027927	A	-	150027927	7	5	629	1	0	1	0	1	0	0	0	0	15461	349	13	0	828	0	SYNPO	5	150027927	Frame_Shift_Del	DEL	A	TCGA-DZ-6132-01A-11D-1961-08	9163110	150027927	30887333	32	34210											
OR2J3	442186	hgsc.bcm.edu	37	6	29079815	29079815	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr6:29079815A>G	ENST00000377169.1	+	1	148	c.148A>G	c.(148-150)Atc>Gtc	p.I50V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GTTCATCATCATCCTGTCATA	0.423																																																0													291	305	300					6																	29079815		1349	2628	3977	SO:0001583	missense	442186				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.148A>G	chr6.hg19:g.29079815A>G	ENSP00000366374:p.Ile50Val		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	hg19	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	A	2.071	-0.413113	0.04799	.	.	ENSG00000204701	ENST00000377169	T	0.03889	3.77	2.78	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00784	0.0026	N	0.05414	-0.055	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48080	-0.9066	9	0.48119	T	0.1	.	4.2981	0.10911	0.682:0.2023:0.1157:0.0	.	50	O76001	OR2J3_HUMAN	V	50	ENSP00000366374:I50V	ENSP00000366374:I50V	I	+	1	0	OR2J3	29187794	0.000000	0.05858	0.992000	0.48379	0.314000	0.28054	-0.814000	0.04486	0.295000	0.22570	0.358000	0.22013	ATC		0.423	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			G	29079815	A	G	29079815	3	3	629	1	0	0	0	0	1	0	0	0	11006	217	8	3	150	3	OR2J3	6	29079815	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08		29079815	142035252	33	34211											
ZBTB22	9278	hgsc.bcm.edu	37	6	33284668	33284668	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr6:33284668C>T	ENST00000431845.2	-	2	177	c.26G>A	c.(25-27)aGt>aAt	p.S9N	TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.S9N|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGCTGCCCCACTGGGAGACAG	0.657																																																0													18	22	21					6																	33284668		2202	4295	6497	SO:0001583	missense	9278			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.26G>A	chr6.hg19:g.33284668C>T	ENSP00000407545:p.Ser9Asn		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	hg19	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996665	0.35226	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.64803	3.38;3.38;-0.12	4.68	2.67	0.31697	.	.	.	.	.	T	0.17831	0.0428	N	0.08118	0	0.26387	N	0.976649	B	0.16166	0.016	B	0.14578	0.011	T	0.11567	-1.0582	9	0.38643	T	0.18	.	4.8891	0.13717	0.0:0.6566:0.2229:0.1205	.	9	O15209	ZBT22_HUMAN	N	9	ENSP00000404403:S9N;ENSP00000407545:S9N;ENSP00000413172:S9N	ENSP00000404403:S9N	S	-	2	0	ZBTB22	33392646	0.013000	0.17824	1.000000	0.80357	0.995000	0.86356	1.367000	0.34204	1.172000	0.42781	0.638000	0.83543	AGT		0.657	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			T	33284668	C	T	33284668	3	4	629	1	0	0	0	0	1	0	0	0	17535	565	20	2	1882	2	ZBTB22	6	33284668	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	4204853	33284668	137830399	34	34212											
UBR2	23304	hgsc.bcm.edu	37	6	42559909	42559909	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr6:42559909C>G	ENST00000372899.1	+	3	617	c.359C>G	c.(358-360)aCt>aGt	p.T120S	UBR2_ENST00000372901.1_Missense_Mutation_p.T120S|UBR2_ENST00000372903.2_Missense_Mutation_p.T120S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	120					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GTTGATCCAACTTGTGTTTTG	0.323																																																0													112	101	105					6																	42559909		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.359C>G	chr6.hg19:g.42559909C>G	ENSP00000361990:p.Thr120Ser		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	hg19	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730359	0.89390	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	D;D;D	0.82255	-1.59;-1.59;-1.59	5.24	5.24	0.73138	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.000000	0.85682	D	0.000000	D	0.88887	0.6559	M	0.73319	2.225	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.81914	0.995;0.894	D	0.87768	0.2603	10	0.41790	T	0.15	-11.9828	18.4238	0.90602	0.0:1.0:0.0:0.0	.	120;120	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	S	120	ENSP00000361994:T120S;ENSP00000361990:T120S;ENSP00000361992:T120S	ENSP00000361990:T120S	T	+	2	0	UBR2	42667887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.756000	0.74919	2.459000	0.83118	0.655000	0.94253	ACT		0.323	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		G	42559909	C	G	42559909	3	3	629	1	0	0	0	0	1	0	0	0	16907	565	20	4	369	4	UBR2	6	42559909	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	9275241	42559909	128555158	35	34213											
SLC35B2	347734	hgsc.bcm.edu	37	6	44222677	44222677	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr6:44222677G>C	ENST00000393812.3	-	4	1208	c.1065C>G	c.(1063-1065)atC>atG	p.I355M	SLC35B2_ENST00000495706.1_5'UTR|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.I262M|SLC35B2_ENST00000537814.1_Missense_Mutation_p.I222M	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	355					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGTGTAAAAGATGAAGAGCT	0.577																																																0													59	52	54					6																	44222677		2203	4300	6503	SO:0001583	missense	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1065C>G	chr6.hg19:g.44222677G>C	ENSP00000377401:p.Ile355Met		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	hg19	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	g	16.92	3.256373	0.59321	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.40476	1.03;1.03;1.03	5.0	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	H	0.96460	3.825	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.77838	-0.2439	10	0.87932	D	0	-30.6983	12.2066	0.54355	0.1659:0.0:0.8341:0.0	.	262;355	F5H7Y9;Q8TB61	.;S35B2_HUMAN	M	355;222;262;315	ENSP00000377401:I355M;ENSP00000440340:I222M;ENSP00000443845:I262M	ENSP00000342455:I315M	I	-	3	3	SLC35B2	44330655	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.845000	0.48254	1.121000	0.41925	0.540000	0.68198	ATC		0.577	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			C	44222677	G	C	44222677	3	2	629	1	0	0	0	0	1	0	0	0	14582	932	33	4	237	4	SLC35B2	6	44222677	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	1662768	44222677	126892390	36	34214											
TPST1	8460	hgsc.bcm.edu	37	7	65705725	65705725	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:65705725C>A	ENST00000304842.5	+	2	738	c.313C>A	c.(313-315)Ccc>Acc	p.P105T	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	105					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CAGGGTCATTCCCCGAATCCT	0.527																																																0													96	93	94					7																	65705725		2203	4300	6503	SO:0001583	missense	8460			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.313C>A	chr7.hg19:g.65705725C>A	ENSP00000302413:p.Pro105Thr		A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	hg19	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574392	0.86542	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	T;T	0.41065	1.01;1.01	5.78	5.78	0.91487	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.72334	0.3447	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.986;0.994	T	0.76498	-0.2937	10	0.56958	D	0.05	-14.1045	19.0054	0.92848	0.0:1.0:0.0:0.0	.	105;105	F5H7U7;O60507	.;TPST1_HUMAN	T	105	ENSP00000302413:P105T;ENSP00000391338:P105T	ENSP00000302413:P105T	P	+	1	0	TPST1	65343160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.950000	0.75977	2.723000	0.93209	0.585000	0.79938	CCC		0.527	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		A	65705725	C	A	65705725	3	1	629	1	0	0	0	0	1	0	0	0	16432	855	30	4	315	4	TPST1	7	65705725	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08		65705725	93432938	37	34215											
ELN	2006	hgsc.bcm.edu	37	7	73474279	73474279	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:73474279C>T	ENST00000252034.7	+	23	1877	c.1478C>T	c.(1477-1479)cCt>cTt	p.P493L	ELN_ENST00000357036.5_Missense_Mutation_p.P498L|ELN_ENST00000380553.4_Missense_Mutation_p.P357L|ELN_ENST00000414324.1_Missense_Mutation_p.P469L|ELN_ENST00000380584.4_Missense_Mutation_p.P460L|ELN_ENST00000380575.4_Missense_Mutation_p.P464L|ELN_ENST00000380562.4_Missense_Mutation_p.P499L|ELN_ENST00000429192.1_Missense_Mutation_p.P479L|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Missense_Mutation_p.P493L|ELN_ENST00000320492.7_Missense_Mutation_p.P412L|ELN_ENST00000358929.4_Missense_Mutation_p.P528L|ELN_ENST00000380576.5_Missense_Mutation_p.P474L|ELN_ENST00000320399.6_Missense_Mutation_p.P493L|ELN_ENST00000458204.1_Missense_Mutation_p.P483L	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GGTGTGGCTCCTGGAGTTGGC	0.612			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																Dom	yes		7	7q11.23	2006	elastin	yes	L	0													205	192	196					7																	73474279		2203	4300	6503	SO:0001583	missense	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1478C>T	chr7.hg19:g.73474279C>T	ENSP00000252034:p.Pro493Leu		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	hg19	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	C	14.98	2.695839	0.48202	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	1.42;1.35;1.26;1.39;0.95;1.27;0.92;1.18;1.41;1.4;0.95;1.07;1.0;1.38	2.86	2.86	0.33363	.	.	.	.	.	T	0.41119	0.1145	.	.	.	0.80722	D	1	P;P;P;P;P;P;P;P;P;P;P;P;P	0.51351	0.573;0.573;0.573;0.573;0.573;0.573;0.573;0.573;0.573;0.944;0.573;0.573;0.573	B;B;B;B;B;B;B;B;B;P;B;B;B	0.44811	0.199;0.199;0.199;0.199;0.199;0.199;0.199;0.199;0.199;0.461;0.199;0.199;0.199	T	0.47302	-0.9128	8	0.62326	D	0.03	.	11.5518	0.50725	0.0:1.0:0.0:0.0	.	493;412;469;483;499;464;479;498;474;357;404;460;493	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	L	493;493;528;412;469;499;464;460;483;498;479;357;474;493	ENSP00000389857:P493L;ENSP00000252034:P493L;ENSP00000351807:P528L;ENSP00000315607:P412L;ENSP00000392575:P469L;ENSP00000369936:P499L;ENSP00000369949:P464L;ENSP00000369958:P460L;ENSP00000403162:P483L;ENSP00000349540:P498L;ENSP00000391129:P479L;ENSP00000369926:P357L;ENSP00000369950:P474L;ENSP00000313565:P493L	ENSP00000252034:P493L	P	+	2	0	ELN	73112215	0.159000	0.22864	0.014000	0.15608	0.005000	0.04900	3.649000	0.54417	1.625000	0.50366	0.555000	0.69702	CCT		0.612	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		T	73474279	C	T	73474279	3	4	629	1	0	0	0	0	1	0	0	0	5073	681	24	2	1583	2	ELN	7	73474279	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	7768554	73474279	85664384	38	34216											
DLD	1738	hgsc.bcm.edu	37	7	107542828	107542828	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:107542828T>C	ENST00000205402.5	+	4	538	c.257T>C	c.(256-258)aTt>aCt	p.I86T	DLD_ENST00000494441.1_3'UTR|DLD_ENST00000537148.1_Intron|DLD_ENST00000440410.1_Intron|DLD_ENST00000437604.2_Missense_Mutation_p.I86T	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	86					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	GTTGGTTGTATTCCTTCTAAG	0.368																																																0													295	259	271					7																	107542828		2203	4300	6503	SO:0001583	missense	1738			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.257T>C	chr7.hg19:g.107542828T>C	ENSP00000205402:p.Ile86Thr		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	hg19	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430417	0.83776	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000437604;ENST00000539590	T;T;T	0.56103	0.48;0.48;0.48	6.17	6.17	0.99709	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	H	0.96691	3.865	0.80722	D	1	P;D	0.54397	0.945;0.966	D;D	0.83275	0.955;0.996	D	0.87980	0.2742	10	0.87932	D	0	-11.8281	16.0034	0.80327	0.0:0.0:0.0:1.0	.	86;86	B4DT69;P09622	.;DLDH_HUMAN	T	86;86;86;36	ENSP00000205402:I86T;ENSP00000390667:I86T;ENSP00000387542:I86T	ENSP00000205402:I86T	I	+	2	0	DLD	107330064	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.900000	0.75687	2.371000	0.80710	0.533000	0.62120	ATT		0.368	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		C	107542828	T	C	107542828	3	2	629	1	0	0	0	0	1	0	0	0	4553	1493	52	3	271	3	DLD	7	107542828	Missense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08	34068549	107542828	51595835	39	34217											
MET	4233	hgsc.bcm.edu	37	7	116417457	116417457	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:116417457G>A	ENST00000318493.6	+	16	3515	c.3328G>A	c.(3328-3330)Gta>Ata	p.V1110I	MET_ENST00000397752.3_Missense_Mutation_p.V1092I|MET_ENST00000539704.1_5'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTTGGTTGTGTATATCATGG	0.338			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0			GRCh37	CM990852	MET	M							191	176	180					7																	116417457		1827	4084	5911	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3328G>A	chr7.hg19:g.116417457G>A	ENSP00000317272:p.Val1110Ile		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834124	0.91036	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.64991	-0.13;-0.13	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	M	0.80422	2.495	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.85130	0.997;0.99	D	0.83726	0.0195	10	0.87932	D	0	.	19.0107	0.92871	0.0:0.0:1.0:0.0	.	1110;1092	P08581-2;P08581	.;MET_HUMAN	I	1092;1110	ENSP00000380860:V1092I;ENSP00000317272:V1110I	ENSP00000317272:V1110I	V	+	1	0	MET	116204693	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.813000	0.99286	2.560000	0.86352	0.563000	0.77884	GTA		0.338	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			A	116417457	G	A	116417457	3	1	629	1	0	0	0	0	1	0	0	0	9487	1377	48	2	3386	2	MET	7	116417457	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	8874629	116417457	42721206	40	34218											
FAM40B	57464	hgsc.bcm.edu	37	7	129120722	129120722	+	Silent	SNP	C	C	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr7:129120722C>A	ENST00000249344.2	+	19	2081	c.2041C>A	c.(2041-2043)Cgg>Agg	p.R681R	STRIP2_ENST00000435494.2_Silent_p.R681R	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	681					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.R681R(1)|p.R681W(1)									GAAACATTCCCGGACCATGGT	0.428																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											141	122	128					7																	129120722		2203	4300	6503	SO:0001819	synonymous_variant	57464			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2041C>A	chr7.hg19:g.129120722C>A			Q8WUZ4	Silent	SNP	ENST00000249344.2	hg19	CCDS34752.1																																																																																				0.428	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		A	129120722	C	A	129120722	2	1	629	1	0	0	0	0	0	0	0	1	5563	643	23	4		4	FAM40B	7	129120722	Silent	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	12703265	129120722	30017941	41	34219											
MCPH1	79648	hgsc.bcm.edu	37	8	6302563	6302563	+	Silent	SNP	T	T	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr8:6302563T>C	ENST00000344683.5	+	8	1396	c.1320T>C	c.(1318-1320)gcT>gcC	p.A440A	MCPH1_ENST00000522905.1_Silent_p.A392A|MCPH1_ENST00000519480.1_Silent_p.A440A	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	440					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAAGCCCTGCTCAGTTGAGCT	0.403																																					Colon(95;1448 1467 8277 34473 35819)											0													90	88	89					8																	6302563		1903	4122	6025	SO:0001819	synonymous_variant	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1320T>C	chr8.hg19:g.6302563T>C			B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Silent	SNP	ENST00000344683.5	hg19	CCDS43689.1																																																																																				0.403	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		C	6302563	T	C	6302563	2	2	629	1	0	0	0	0	0	0	0	1	9400	1538	54	3		3	MCPH1	8	6302563	Silent	SNP	T	TCGA-DZ-6132-01A-11D-1961-08		6302563	140061459	42	34220											
ST18	9705	hgsc.bcm.edu	37	8	53092686	53092686	+	Silent	SNP	G	G	T	rs137908806		TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr8:53092686G>T	ENST00000276480.7	-	9	956	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	91					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGCTACCTGCGGTAGAGTGAC	0.517																																																0													258	210	226					8																	53092686		2203	4300	6503	SO:0001819	synonymous_variant	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.273C>A	chr8.hg19:g.53092686G>T			Q17RY1	Silent	SNP	ENST00000276480.7	hg19	CCDS6149.1																																																																																				0.517	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			T	53092686	G	T	53092686	2	4	629	1	0	0	0	0	0	0	0	1	15217	1103	39	4		4	ST18	8	53092686	Silent	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	46790123	53092686	93271336	43	34221											
ADCY8	114	hgsc.bcm.edu	37	8	131921969	131921969	+	Missense_Mutation	SNP	G	G	C	rs368729916		TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr8:131921969G>C	ENST00000286355.5	-	6	3717	c.1625C>G	c.(1624-1626)tCt>tGt	p.S542C	ADCY8_ENST00000377928.3_Missense_Mutation_p.S542C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	542					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GATTCCTCCAGATTCGAGTTT	0.463										HNSCC(32;0.087)																																						0								G	CYS/SER	1,4405	2.1+/-5.4	0,1,2202	242	216	225		1625	5.9	1	8		225	0,8600		0,0,4300	no	missense	ADCY8	NM_001115.2	112	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	542/1252	131921969	1,13005	2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1625C>G	chr8.hg19:g.131921969G>C	ENSP00000286355:p.Ser542Cys			Missense_Mutation	SNP	ENST00000286355.5	hg19	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072076	0.93950	2.27E-4	0.0	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.87029	-2.2;-2.2;-2.2	5.93	5.93	0.95920	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.052374	0.85682	D	0.000000	D	0.96423	0.8833	H	0.98276	4.19	0.49483	D	0.999792	D;D	0.69078	0.995;0.997	D;D	0.68353	0.957;0.953	D	0.97510	1.0066	10	0.87932	D	0	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	542;542	E7EVL1;P40145	.;ADCY8_HUMAN	C	542;542;157	ENSP00000286355:S542C;ENSP00000367161:S542C;ENSP00000428010:S157C	ENSP00000286355:S542C	S	-	2	0	ADCY8	131991151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	TCT		0.463	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			C	131921969	G	C	131921969	3	2	629	1	0	0	0	0	1	0	0	0	300	942	33	4	2182	4	ADCY8	8	131921969	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	78829283	131921969	14442053	44	34222											
TEK	7010	hgsc.bcm.edu	37	9	27197591	27197591	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr9:27197591A>G	ENST00000380036.4	+	12	2345	c.1903A>G	c.(1903-1905)Agt>Ggt	p.S635G	TEK_ENST00000519097.1_Missense_Mutation_p.S488G|TEK_ENST00000406359.4_Missense_Mutation_p.S592G|RNA5SP280_ENST00000411230.1_RNA	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	635	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TTGGACCCTTAGTGACAGTAA	0.493																																																0													39	40	40					9																	27197591		2203	4300	6503	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1903A>G	chr9.hg19:g.27197591A>G	ENSP00000369375:p.Ser635Gly		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	hg19	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	A	9.271	1.045584	0.19748	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.54	5.54	0.83059	Fibronectin, type III (1);	0.000000	0.64402	D	0.000010	T	0.62816	0.2459	L	0.56769	1.78	0.51233	D	0.999913	B;P;D;B	0.63880	0.281;0.462;0.993;0.361	B;B;D;B	0.68192	0.056;0.141;0.956;0.081	T	0.58457	-0.7633	10	0.23302	T	0.38	.	15.6853	0.77405	1.0:0.0:0.0:0.0	.	488;668;592;635	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	G	488;635;592;445	ENSP00000430686:S488G;ENSP00000369375:S635G;ENSP00000383977:S592G;ENSP00000428337:S445G	ENSP00000369375:S635G	S	+	1	0	TEK	27187591	0.999000	0.42202	0.744000	0.31058	0.104000	0.19210	4.662000	0.61525	2.117000	0.64856	0.533000	0.62120	AGT		0.493	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			G	27197591	A	G	27197591	3	3	629	1	0	0	0	0	1	0	0	0	15756	420	15	3	1949	3	TEK	9	27197591	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08		27197591	114015840	45	34223											
ZCCHC6	79670	hgsc.bcm.edu	37	9	88943326	88943326	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr9:88943326C>G	ENST00000375963.3	-	11	1709	c.1537G>C	c.(1537-1539)Gac>Cac	p.D513H	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.D513H|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.D390H|ZCCHC6_ENST00000277141.6_5'UTR	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	513					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GCAGCACTGTCAGTATGTTCC	0.408																																																0													246	214	225					9																	88943326		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1537G>C	chr9.hg19:g.88943326C>G	ENSP00000365130:p.Asp513His		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	hg19	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662242	0.47572	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.46819	0.86;1.06;1.06	4.35	4.35	0.52113	.	0.478121	0.23602	N	0.046437	T	0.55162	0.1903	L	0.36672	1.1	0.19945	N	0.999947	D;D	0.69078	0.997;0.991	P;P	0.61132	0.884;0.769	T	0.49551	-0.8928	10	0.66056	D	0.02	-18.5595	15.1952	0.73081	0.0:1.0:0.0:0.0	.	390;513	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	H	390;513;513	ENSP00000365127:D390H;ENSP00000365128:D513H;ENSP00000365130:D513H	ENSP00000365127:D390H	D	-	1	0	ZCCHC6	88133146	0.448000	0.25681	0.092000	0.20876	0.015000	0.08874	1.298000	0.33412	2.699000	0.92147	0.462000	0.41574	GAC		0.408	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		G	88943326	C	G	88943326	3	3	629	1	0	0	0	0	1	0	0	0	17597	826	29	4	3018	4	ZCCHC6	9	88943326	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	61745735	88943326	52270105	46	34224											
ZFP37	7539	hgsc.bcm.edu	37	9	115806495	115806495	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr9:115806495delG	ENST00000374227.3	-	4	430	c.403delC	c.(403-405)ctcfs	p.L136fs	ZFP37_ENST00000553380.1_Frame_Shift_Del_p.L151fs|ZFP37_ENST00000555206.1_Frame_Shift_Del_p.L137fs	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCCCTGAGGAGTTTGTTTTGA	0.353																																																0													85	91	89					9																	115806495		2171	4194	6365	SO:0001589	frameshift_variant	7539			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.403delC	chr9.hg19:g.115806495delG	ENSP00000363344:p.Leu136fs		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Frame_Shift_Del	DEL	ENST00000374227.3	hg19	CCDS6787.1																																																																																				0.353	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		-	115806495	G	-	115806495	7	5	629	1	0	1	0	1	0	0	0	0	17653	1029	36	0	1493	0	ZFP37	9	115806495	Frame_Shift_Del	DEL	G	TCGA-DZ-6132-01A-11D-1961-08	26863169	115806495	25406936	47	34225											
CRAT	1384	hgsc.bcm.edu	37	9	131864688	131864688	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr9:131864688G>T	ENST00000318080.2	-	5	915	c.621C>A	c.(619-621)caC>caA	p.H207Q	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	207					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCTGGTAGTTGTGTACCACGG	0.642																																																0													147	128	135					9																	131864688		2203	4300	6503	SO:0001583	missense	1384			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.621C>A	chr9.hg19:g.131864688G>T	ENSP00000315013:p.His207Gln		Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	hg19	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223146	0.79464	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	D	0.89343	-2.5	5.37	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.92528	0.7627	M	0.76170	2.325	0.80722	D	1	D	0.62365	0.991	D	0.68039	0.955	D	0.90458	0.4444	10	0.31617	T	0.26	-47.0361	10.6033	0.45379	0.12:0.0:0.88:0.0	.	207	P43155	CACP_HUMAN	Q	207	ENSP00000315013:H207Q	ENSP00000315013:H207Q	H	-	3	2	CRAT	130904509	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.076000	0.57591	0.913000	0.36797	0.561000	0.74099	CAC		0.642	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			T	131864688	G	T	131864688	3	4	629	1	0	0	0	0	1	0	0	0	3849	1368	48	4	1299	4	CRAT	9	131864688	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	16058193	131864688	9348743	48	34226											
ARHGAP21	57584	hgsc.bcm.edu	37	10	24908604	24908604	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr10:24908604delT	ENST00000396432.2	-	9	2706	c.2220delA	c.(2218-2220)aaafs	p.K740fs	ARHGAP21_ENST00000320481.6_Frame_Shift_Del_p.K527fs	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	739					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAGATGGAGGTTTTTCCCTTA	0.453																																																0													102	96	98					10																	24908604		2203	4300	6503	SO:0001589	frameshift_variant	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2220delA	chr10.hg19:g.24908604delT	ENSP00000379709:p.Lys740fs		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Del	DEL	ENST00000396432.2	hg19	CCDS7144.2																																																																																				0.453	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		-	24908604	T	-	24908604	7	5	629	1	0	1	0	1	0	0	0	0	871	1722	60	0	3728	0	ARHGAP21	10	24908604	Frame_Shift_Del	DEL	T	TCGA-DZ-6132-01A-11D-1961-08		24908604	110626143	49	34227											
STOX1	219736	hgsc.bcm.edu	37	10	70645179	70645179	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr10:70645179delT	ENST00000298596.6	+	3	1710	c.1627delT	c.(1627-1629)tttfs	p.F543fs	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Frame_Shift_Del_p.F433fs|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Frame_Shift_Del_p.F543fs	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	543						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCAAGAATCTTTGATGGTAA	0.418																																																0													66	60	62					10																	70645179		1853	4096	5949	SO:0001589	frameshift_variant	219736			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1627delT	chr10.hg19:g.70645179delT	ENSP00000298596:p.Phe543fs		A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Frame_Shift_Del	DEL	ENST00000298596.6	hg19	CCDS41535.1																																																																																				0.418	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		-	70645179	T	-	70645179	7	5	629	1	0	1	0	1	0	0	0	0	15324	1609	56	0	1637	0	STOX1	10	70645179	Frame_Shift_Del	DEL	T	TCGA-DZ-6132-01A-11D-1961-08	45736575	70645179	64889568	50	34228											
IKZF5	64376	hgsc.bcm.edu	37	10	124755609	124755609	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr10:124755609C>A	ENST00000368886.5	-	4	537	c.217G>T	c.(217-219)Ggg>Tgg	p.G73W	IKZF5_ENST00000479103.1_5'Flank|PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CTTTCAAACCCGTCTACTAAC	0.443																																																0													128	125	126					10																	124755609		1880	4108	5988	SO:0001583	missense	64376			AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	14283	protein-coding gene	gene with protein product		606238	"zinc finger protein, subfamily 1A, 5", "zinc finger protein, subfamily 1A, 5 (Pegasus)"	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.217G>T	chr10.hg19:g.124755609C>A	ENSP00000357881:p.Gly73Trp		B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	hg19	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862844	0.91511	.	.	ENSG00000095574	ENST00000368886	T	0.07327	3.2	6.17	5.25	0.73442	.	0.046543	0.85682	N	0.000000	T	0.18257	0.0438	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.03641	-1.1017	10	0.66056	D	0.02	-6.9707	16.7418	0.85461	0.1302:0.8698:0.0:0.0	.	73	Q9H5V7	IKZF5_HUMAN	W	73	ENSP00000357881:G73W	ENSP00000357881:G73W	G	-	1	0	IKZF5	124745599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	1.561000	0.49584	0.655000	0.94253	GGG		0.443	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		A	124755609	C	A	124755609	3	1	629	1	0	0	0	0	1	0	0	0	7620	652	23	4	1050	4	IKZF5	10	124755609	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	54110430	124755609	10779138	51	34229											
MKI67	4288	hgsc.bcm.edu	37	10	129902189	129902189	+	Missense_Mutation	SNP	C	C	A	rs537885553	byFrequency	TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr10:129902189C>A	ENST00000368654.3	-	13	8290	c.7915G>T	c.(7915-7917)Ggt>Tgt	p.G2639C	MKI67_ENST00000368653.3_Missense_Mutation_p.G2279C	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2639	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCCTCATCACCGCTTGCTGGT	0.493																																																0													163	155	158					10																	129902189		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7915G>T	chr10.hg19:g.129902189C>A	ENSP00000357643:p.Gly2639Cys		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922972	0.33908	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02323	4.34;4.34	2.66	-2.89	0.05665	.	2.905960	0.01493	N	0.017166	T	0.05456	0.0144	L	0.27053	0.805	0.09310	N	1	D;P;P	0.63880	0.993;0.91;0.9	P;P;P	0.55112	0.769;0.473;0.673	T	0.31024	-0.9958	10	0.56958	D	0.05	.	7.7285	0.28773	0.0:0.3498:0.0:0.6502	.	2638;2279;2639	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	C	2639;2279;2638	ENSP00000357643:G2639C;ENSP00000357642:G2279C	ENSP00000357642:G2279C	G	-	1	0	MKI67	129792179	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.539000	0.06113	-0.797000	0.04450	-0.261000	0.10672	GGT		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		A	129902189	C	A	129902189	3	1	629	1	0	0	0	0	1	0	0	0	9600	652	23	4	1867	4	MKI67	10	129902189	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	5146580	129902189	5632558	52	34230											
ZNF143	7702	hgsc.bcm.edu	37	11	9519250	9519250	+	Silent	SNP	T	T	G	rs373920789		TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr11:9519250T>G	ENST00000396602.2	+	10	989	c.870T>G	c.(868-870)acT>acG	p.T290T	ZNF143_ENST00000396597.3_Silent_p.T259T|ZNF143_ENST00000396604.1_Silent_p.T289T|ZNF143_ENST00000530463.1_Silent_p.T289T|ZNF143_ENST00000299606.2_Silent_p.T262T	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	290					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACGTCAGAACTCATACAGGAG	0.328																																																0								T		3,4399	6.2+/-15.9	0,3,2198	65	66	66		870	2.7	1	11		66	0,8588		0,0,4294	no	coding-synonymous	ZNF143	NM_003442.5		0,3,6492	GG,GT,TT		0.0,0.0682,0.0231		290/639	9519250	3,12987	2201	4294	6495	SO:0001819	synonymous_variant	7702			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.870T>G	chr11.hg19:g.9519250T>G			A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	ENST00000396602.2	hg19	CCDS7799.2																																																																																				0.328	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		G	9519250	T	G	9519250	2	3	629	1	0	0	0	0	0	0	0	1	17737	1538	54	5		5	ZNF143	11	9519250	Silent	SNP	T	TCGA-DZ-6132-01A-11D-1961-08		9519250	125487266	53	34231											
GIF	2694	hgsc.bcm.edu	37	11	59610049	59610049	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr11:59610049G>C	ENST00000257248.2	-	4	425	c.378C>G	c.(376-378)aaC>aaG	p.N126K	GIF_ENST00000541311.1_Missense_Mutation_p.N101K	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	126					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	ATGCTTCAGCGTTGGGGCCTC	0.522																																					NSCLC(53;1139 1245 16872 38474 42853)											0													68	61	63					11																	59610049		2201	4295	6496	SO:0001583	missense	2694			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.378C>G	chr11.hg19:g.59610049G>C	ENSP00000257248:p.Asn126Lys		B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	hg19	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417564	0.25552	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.35973	1.28;1.28	5.63	-11.3	0.00108	.	1.313500	0.04767	N	0.427342	T	0.21590	0.0520	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22208	-1.0223	10	0.48119	T	0.1	1.5143	8.9085	0.35539	0.1072:0.0807:0.5605:0.2515	.	126	P27352	IF_HUMAN	K	126;101	ENSP00000257248:N126K;ENSP00000440427:N101K	ENSP00000257248:N126K	N	-	3	2	GIF	59366625	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.689000	0.00392	-2.813000	0.00347	-2.048000	0.00412	AAC		0.522	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		C	59610049	G	C	59610049	3	2	629	1	0	0	0	0	1	0	0	0	6378	1136	40	4	899	4	GIF	11	59610049	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	50090799	59610049	75396467	54	34232											
FADS1	3992	hgsc.bcm.edu	37	11	61578255	61578255	+	Missense_Mutation	SNP	A	A	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr11:61578255A>C	ENST00000350997.7	-	5	1115	c.883T>G	c.(883-885)Ttc>Gtc	p.F295V	FADS1_ENST00000433932.1_Missense_Mutation_p.F154V|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000542506.1_Missense_Mutation_p.F154V	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	238					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGGCAAAGAAGAAGGGATGC	0.567																																																0													137	150	145					11																	61578255		2112	4243	6355	SO:0001583	missense	3992				CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.883T>G	chr11.hg19:g.61578255A>C	ENSP00000322229:p.Phe295Val		A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	ENST00000350997.7	hg19	CCDS8011.2	.	.	.	.	.	.	.	.	.	.	A	10.51	1.369315	0.24771	.	.	ENSG00000149485	ENST00000543488;ENST00000350997;ENST00000412725;ENST00000433932;ENST00000542506;ENST00000539999;ENST00000540767;ENST00000545245	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.06	2.75	0.32379	Fatty acid desaturase, type 1 (1);	0.000000	0.50627	U	0.000109	T	0.35248	0.0925	N	0.02973	-0.45	0.42328	D	0.992286	B	0.27192	0.171	B	0.27500	0.08	T	0.06770	-1.0808	10	0.25106	T	0.35	-29.7375	4.9109	0.13821	0.7052:0.0:0.1563:0.1385	.	238	O60427	FADS1_HUMAN	V	171;295;154;154;154;24;154;154	ENSP00000322229:F295V;ENSP00000405087:F154V;ENSP00000441403:F154V;ENSP00000443587:F24V;ENSP00000441871:F154V;ENSP00000442170:F154V	ENSP00000322229:F295V	F	-	1	0	FADS1	61334831	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	3.525000	0.53502	0.893000	0.36288	-0.250000	0.11733	TTC		0.567	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		C	61578255	A	C	61578255	3	2	629	1	0	0	0	0	1	0	0	0	5367	72	3	5	654	5	FADS1	11	61578255	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	1968206	61578255	73428261	55	34233											
SLC22A8	9376	hgsc.bcm.edu	37	11	62760990	62760990	+	Missense_Mutation	SNP	C	C	A	rs374075913		TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr11:62760990C>A	ENST00000336232.2	-	10	1570	c.1435G>T	c.(1435-1437)Ggg>Tgg	p.G479W	SLC22A8_ENST00000545207.1_Missense_Mutation_p.G388W|SLC22A8_ENST00000535878.1_Missense_Mutation_p.G356W|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G479W|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G479W	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	479				YGI -> FTGS (in Ref. 1; AAD19357). {ECO:0000305}.	glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCGGTGATCCCGTAGATGATA	0.577																																																0													98	94	96					11																	62760990		2201	4298	6499	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1435G>T	chr11.hg19:g.62760990C>A	ENSP00000337335:p.Gly479Trp		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	hg19	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600516	0.66332	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.9	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.110148	0.64402	D	0.000009	D	0.82572	0.5066	H	0.96111	3.77	0.45452	D	0.998421	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87435	0.2391	10	0.87932	D	0	.	12.596	0.56470	0.0:0.9204:0.0:0.0796	.	479;479	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	W	479;465;388;356;479;479	ENSP00000337335:G479W;ENSP00000441658:G388W;ENSP00000443368:G356W;ENSP00000311463:G479W;ENSP00000398548:G479W	ENSP00000311463:G479W	G	-	1	0	SLC22A8	62517566	0.996000	0.38824	0.079000	0.20413	0.703000	0.40648	4.811000	0.62606	1.503000	0.48686	0.591000	0.81541	GGG		0.577	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		A	62760990	C	A	62760990	3	1	629	1	0	0	0	0	1	0	0	0	14466	652	23	4	201	4	SLC22A8	11	62760990	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	1182735	62760990	72245526	56	34234											
STYK1	55359	hgsc.bcm.edu	37	12	10780290	10780290	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:10780290G>C	ENST00000075503.3	-	7	1187	c.667C>G	c.(667-669)Ctc>Gtc	p.L223V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TTTTCTGTGAGATCATAGAGA	0.398										HNSCC(73;0.22)																																						0													209	145	167					12																	10780290		2203	4300	6503	SO:0001583	missense	55359			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.667C>G	chr12.hg19:g.10780290G>C	ENSP00000075503:p.Leu223Val		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	hg19	CCDS8629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.34|13.34	2.207320|2.207320	0.39003|0.39003	.|.	.|.	ENSG00000060140|ENSG00000060140	ENST00000542924|ENST00000075503	.|T	.|0.74106	.|-0.81	5.11|5.11	3.25|3.25	0.37280|0.37280	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.092391	.|0.47093	.|D	.|0.000250	T|T	0.73305|0.73305	0.3570|0.3570	L|L	0.56340|0.56340	1.77|1.77	0.40939|0.40939	D|D	0.984457|0.984457	.|B	.|0.22080	.|0.064	.|B	.|0.35727	.|0.209	T|T	0.72640|0.72640	-0.4232|-0.4232	5|10	.|0.87932	.|D	.|0	-6.5489|-6.5489	12.1571|12.1571	0.54083|0.54083	0.0:0.0:0.6901:0.3098|0.0:0.0:0.6901:0.3098	.|.	.|223	.|Q6J9G0	.|STYK1_HUMAN	M|V	66|223	.|ENSP00000075503:L223V	.|ENSP00000075503:L223V	I|L	-|-	3|1	3|0	STYK1|STYK1	10671557|10671557	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.014000|2.014000	0.40951|0.40951	0.706000|0.706000	0.31912|0.31912	-0.181000|-0.181000	0.13052|0.13052	ATC|CTC		0.398	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		C	10780290	G	C	10780290	3	2	629	1	0	0	0	0	1	0	0	0	15364	942	33	4	621	4	STYK1	12	10780290	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08		10780290	123071605	57	34235											
PLEKHA5	54477	hgsc.bcm.edu	37	12	19506893	19506893	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:19506893A>G	ENST00000299275.6	+	20	2603	c.2597A>G	c.(2596-2598)tAt>tGt	p.Y866C	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y924C|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Y924C|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Y624C|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y855C|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y929C|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y1032C|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Y810C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y848C	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	866					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATAGCTTCCTATGTAACCTTG	0.368																																					Pancreas(196;329 2193 11246 14234 19524)											0													125	119	121					12																	19506893		2203	4300	6503	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2597A>G	chr12.hg19:g.19506893A>G	ENSP00000299275:p.Tyr866Cys		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	hg19	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845797	0.71603	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.31247	2.93;2.93;1.5;2.93;2.93;2.93;2.93;2.93;2.93;2.93;1.5	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.80746	2.51	0.50813	D	0.999898	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.992;0.998;0.996;0.997;0.999;0.994;0.959;0.982	T	0.60105	-0.7328	10	0.41790	T	0.15	-12.8632	14.8567	0.70344	1.0:0.0:0.0:0.0	.	929;848;855;1027;810;1032;866;924	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	C	929;924;810;1028;1032;866;624;924;855;848;821;147	ENSP00000325155:Y929C;ENSP00000347560:Y924C;ENSP00000352104:Y810C;ENSP00000404296:Y1032C;ENSP00000299275:Y866C;ENSP00000440611:Y624C;ENSP00000439673:Y924C;ENSP00000400411:Y855C;ENSP00000439837:Y848C;ENSP00000440371:Y821C;ENSP00000443553:Y147C	ENSP00000299275:Y866C	Y	+	2	0	PLEKHA5	19398160	1.000000	0.71417	0.690000	0.30148	0.968000	0.65278	6.016000	0.70798	1.890000	0.54733	0.372000	0.22366	TAT		0.368	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		G	19506893	A	G	19506893	3	3	629	1	0	0	0	0	1	0	0	0	12061	449	16	3	2993	3	PLEKHA5	12	19506893	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	8726603	19506893	114345002	58	34236											
SLC38A4	55089	hgsc.bcm.edu	37	12	47178364	47178364	+	Missense_Mutation	SNP	T	T	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:47178364T>A	ENST00000447411.1	-	6	660	c.454A>T	c.(454-456)Att>Ttt	p.I152F	SLC38A4_ENST00000266579.4_Missense_Mutation_p.I152F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	152					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AAAGCTCCAATTTTTCCCGGC	0.333																																																0													109	107	107					12																	47178364		2203	4300	6503	SO:0001583	missense	55089			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.454A>T	chr12.hg19:g.47178364T>A	ENSP00000389843:p.Ile152Phe		A8K553	Missense_Mutation	SNP	ENST00000447411.1	hg19	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.242201	0.39598	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	6.07	4.9	0.64082	.	0.311957	0.37906	N	0.001896	T	0.03053	0.0090	L	0.33624	1.015	0.50813	D	0.999895	B	0.09022	0.002	B	0.15870	0.014	T	0.50898	-0.8773	10	0.27785	T	0.31	-8.8755	11.1795	0.48620	0.2577:0.0:0.0:0.7423	.	152	Q969I6	S38A4_HUMAN	F	152	ENSP00000389843:I152F;ENSP00000266579:I152F;ENSP00000450071:I152F;ENSP00000448543:I152F	ENSP00000266579:I152F	I	-	1	0	SLC38A4	45464631	1.000000	0.71417	0.996000	0.52242	0.736000	0.42039	3.555000	0.53727	1.067000	0.40740	0.533000	0.62120	ATT		0.333	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			A	47178364	T	A	47178364	3	1	629	1	0	0	0	0	1	0	0	0	14612	1493	52	5	1233	5	SLC38A4	12	47178364	Missense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08	27671471	47178364	86673531	59	34237											
EIF4B	1975	hgsc.bcm.edu	37	12	53416313	53416313	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:53416313G>C	ENST00000262056.9	+	6	895	c.569G>C	c.(568-570)cGg>cCg	p.R190P	EIF4B_ENST00000420463.3_Missense_Mutation_p.R190P|EIF4B_ENST00000416762.3_Missense_Mutation_p.R151P|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	190	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GATAGAAATCGGGATTCTGAC	0.418																																																0													133	112	119					12																	53416313		1863	4102	5965	SO:0001583	missense	1975			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.569G>C	chr12.hg19:g.53416313G>C	ENSP00000262056:p.Arg190Pro		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	hg19	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124924	0.56613	.	.	ENSG00000063046	ENST00000262056;ENST00000551002;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000552490	T;D;D;D;D	0.94232	0.54;-3.36;-3.36;-3.38;-3.36	3.59	2.7	0.31948	.	0.065726	0.53938	D	0.000044	D	0.87993	0.6318	L	0.27053	0.805	0.58432	D	0.999999	B;B;B	0.33807	0.426;0.301;0.301	B;B;B	0.36504	0.226;0.113;0.113	D	0.86321	0.1692	10	0.56958	D	0.05	.	10.7402	0.46149	0.0982:0.0:0.9018:0.0	.	151;190;190	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	P	190;144;190;190;151;190	ENSP00000262056:R190P;ENSP00000447192:R144P;ENSP00000388806:R190P;ENSP00000412530:R151P;ENSP00000450324:R190P	ENSP00000262056:R190P	R	+	2	0	EIF4B	51702580	1.000000	0.71417	0.979000	0.43373	0.935000	0.57460	6.380000	0.73158	1.077000	0.40990	0.650000	0.86243	CGG		0.418	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		C	53416313	G	C	53416313	3	2	629	1	0	0	0	0	1	0	0	0	5029	1116	39	4	591	4	EIF4B	12	53416313	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	6237949	53416313	80435582	60	34238											
RAB5B	5869	hgsc.bcm.edu	37	12	56385887	56385887	+	Missense_Mutation	SNP	A	A	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:56385887A>T	ENST00000360299.5	+	6	760	c.539A>T	c.(538-540)aAg>aTg	p.K180M	RAB5B_ENST00000448789.2_Missense_Mutation_p.K139M|RAB5B_ENST00000553116.1_Missense_Mutation_p.K180M	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	180					antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CTAGCTAAGAAGTTGCCAAAG	0.507																																																0													59	60	60					12																	56385887		2203	4300	6503	SO:0001583	missense	5869				CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"RAB, member RAS oncogene"	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.539A>T	chr12.hg19:g.56385887A>T	ENSP00000353444:p.Lys180Met		A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Missense_Mutation	SNP	ENST00000360299.5	hg19	CCDS8900.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.65|16.65	3.183016|3.183016	0.57800|0.57800	.|.	.|.	ENSG00000111540|ENSG00000111540	ENST00000549218|ENST00000553116;ENST00000360299;ENST00000448789	.|T;T;T	.|0.80033	.|-1.17;-1.17;-1.33	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.080850	.|0.49916	.|D	.|0.000138	D|D	0.84710|0.84710	0.5532|0.5532	L|L	0.54863|0.54863	1.705|1.705	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;P	.|0.53619	.|0.961;0.55;0.911	.|P;P;P	.|0.57548	.|0.823;0.575;0.69	D|D	0.86486|0.86486	0.1794|0.1794	5|10	.|0.87932	.|D	.|0	-7.6032|-7.6032	14.1258|14.1258	0.65219|0.65219	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|139;180;180	.|B4DKD7;Q6FI54;P61020	.|.;.;RAB5B_HUMAN	D|M	99|180;180;139	.|ENSP00000450168:K180M;ENSP00000353444:K180M;ENSP00000391319:K139M	.|ENSP00000353444:K180M	E|K	+|+	3|2	2|0	RAB5B|RAB5B	54672154|54672154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.605000|5.605000	0.67634|0.67634	2.236000|2.236000	0.73375|0.73375	0.529000|0.529000	0.55759|0.55759	GAA|AAG		0.507	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405396.1			T	56385887	A	T	56385887	3	4	629	1	0	0	0	0	1	0	0	0	12955	72	3	5	557	5	RAB5B	12	56385887	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	2969574	56385887	77466008	61	34239											
GRIP1	23426	hgsc.bcm.edu	37	12	66765625	66765625	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr12:66765625delA	ENST00000398016.3	-	22	2773	c.2705delT	c.(2704-2706)ttcfs	p.F902fs	GRIP1_ENST00000286445.7_Frame_Shift_Del_p.F939fs|GRIP1_ENST00000359742.4_Frame_Shift_Del_p.F954fs	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGCTCCTGGAAGCTGGCCTG	0.552																																																0													86	94	91					12																	66765625		2074	4214	6288	SO:0001589	frameshift_variant	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2705delT	chr12.hg19:g.66765625delA	ENSP00000381098:p.Phe902fs		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Frame_Shift_Del	DEL	ENST00000398016.3	hg19	CCDS41807.1																																																																																				0.552	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			-	66765625	A	-	66765625	7	5	629	1	0	1	0	1	0	0	0	0	6789	246	9	0	537	0	GRIP1	12	66765625	Frame_Shift_Del	DEL	A	TCGA-DZ-6132-01A-11D-1961-08	10379738	66765625	67086270	62	34240											
RCBTB1	55213	hgsc.bcm.edu	37	13	50115836	50115836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr13:50115836delC	ENST00000378302.2	-	11	1560	c.1300delG	c.(1300-1302)gacfs	p.D434fs	RCBTB1_ENST00000471984.1_5'Flank|RCBTB1_ENST00000258646.3_Frame_Shift_Del_p.D434fs	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	434	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGCGGCAGGTCGACTGTGTCT	0.458																																																0													156	116	130					13																	50115836		2203	4300	6503	SO:0001589	frameshift_variant	55213			AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"BTB/POZ domain containing"	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.1300delG	chr13.hg19:g.50115836delC	ENSP00000367552:p.Asp434fs		Q8IY29|Q969U9	Frame_Shift_Del	DEL	ENST00000378302.2	hg19	CCDS9418.1																																																																																				0.458	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		-	50115836	C	-	50115836	7	5	629	1	0	1	0	1	0	0	0	0	13177	884	31	0	307	0	RCBTB1	13	50115836	Frame_Shift_Del	DEL	C	TCGA-DZ-6132-01A-11D-1961-08		50115836	65054042	63	34241											
BIVM	54841	hgsc.bcm.edu	37	13	103492131	103492131	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr13:103492131C>G	ENST00000257336.1	+	11	2107	c.1428C>G	c.(1426-1428)gaC>gaG	p.D476E	BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.D254E|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.L448V	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	476						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCCATCAGGACTCGGCATGGA	0.468																																																0													154	144	147					13																	103492131		2203	4300	6503	SO:0001583	missense	0			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.1428C>G	chr13.hg19:g.103492131C>G	ENSP00000257336:p.Asp476Glu		Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	hg19	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.437445	0.01098	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000418659	.	.	.	5.4	-0.762	0.11034	.	0.188352	0.45606	D	0.000360	T	0.03651	0.0104	N	0.00347	-1.61	0.19300	N	0.999976	B;B;B	0.21606	0.0;0.058;0.005	B;B;B	0.17098	0.001;0.017;0.004	T	0.35624	-0.9781	9	0.02654	T	1	-13.3799	2.8027	0.05419	0.0935:0.3232:0.301:0.2823	.	254;447;476	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	E	476;254;447	.	ENSP00000257336:D476E	D	+	3	2	ERCC5;BIVM	102290132	0.097000	0.21791	0.768000	0.31515	0.791000	0.44710	-0.250000	0.08830	-0.183000	0.10585	-1.255000	0.01485	GAC		0.468	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			G	103492131	C	G	103492131	3	3	629	1	0	0	0	0	1	0	0	0	1441	564	20	4	1483	4	BIVM	13	103492131	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	53376295	103492131	11677747	64	34242											
ANPEP	290	hgsc.bcm.edu	37	15	90349567	90349567	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr15:90349567T>C	ENST00000300060.6	-	2	561	c.248A>G	c.(247-249)gAt>gGt	p.D83G		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	83	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CCGGTAGGAATCGGGTTTCAG	0.617																																					NSCLC(30;827 977 2459 19669 26125)											0													126	102	110					15																	90349567		2200	4299	6499	SO:0001583	missense	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.248A>G	chr15.hg19:g.90349567T>C	ENSP00000300060:p.Asp83Gly		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	hg19	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	6.216	0.408075	0.11754	.	.	ENSG00000166825	ENST00000300060	T	0.02631	4.22	4.74	0.264	0.15607	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	2.111890	0.01982	N	0.044922	T	0.06096	0.0158	M	0.73962	2.25	0.09310	N	1	B	0.26672	0.156	B	0.33121	0.158	T	0.46359	-0.9197	10	0.23891	T	0.37	.	4.6468	0.12575	0.3933:0.0958:0.0:0.5109	.	83	P15144	AMPN_HUMAN	G	83	ENSP00000300060:D83G	ENSP00000300060:D83G	D	-	2	0	ANPEP	88150571	0.000000	0.05858	0.011000	0.14972	0.152000	0.21847	0.560000	0.23500	0.163000	0.19507	0.383000	0.25322	GAT		0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			C	90349567	T	C	90349567	3	2	629	1	0	0	0	0	1	0	0	0	710	1435	50	3	2735	3	ANPEP	15	90349567	Missense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08		90349567	12181825	65	34243											
SV2B	9899	hgsc.bcm.edu	37	15	91769497	91769497	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr15:91769497G>C	ENST00000394232.1	+	2	474	c.4G>C	c.(4-6)Gat>Cat	p.D2H	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.D2H	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	2					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCAAGGAATGGATGACTACAA	0.478																																																0													72	58	63					15																	91769497		2198	4298	6496	SO:0001583	missense	9899			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.4G>C	chr15.hg19:g.91769497G>C	ENSP00000377779:p.Asp2His		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	hg19	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469419	0.63625	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.64803	-0.12;-0.12	5.71	4.79	0.61399	.	0.237482	0.42821	D	0.000651	T	0.65249	0.2673	M	0.68317	2.08	0.48830	D	0.999714	P	0.37015	0.578	B	0.41988	0.372	T	0.69007	-0.5259	10	0.72032	D	0.01	-15.0004	13.3113	0.60382	0.077:0.0:0.923:0.0	.	2	Q7L1I2	SV2B_HUMAN	H	2	ENSP00000377779:D2H;ENSP00000332818:D2H	ENSP00000332818:D2H	D	+	1	0	SV2B	89570501	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	7.523000	0.81856	1.411000	0.46957	0.563000	0.77884	GAT		0.478	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		C	91769497	G	C	91769497	3	2	629	1	0	0	0	0	1	0	0	0	15423	1174	41	4	6	4	SV2B	15	91769497	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	1419930	91769497	10761895	66	34244											
RBBP6	5930	hgsc.bcm.edu	37	16	24582943	24582943	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr16:24582943G>C	ENST00000319715.4	+	18	4988	c.4556G>C	c.(4555-4557)aGa>aCa	p.R1519T	RBBP6_ENST00000381039.3_Missense_Mutation_p.R679T|RBBP6_ENST00000348022.2_Missense_Mutation_p.R1485T	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1519	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGGGAAGAGAGAGATTTGCCT	0.358																																																0													40	39	39					16																	24582943		2197	4298	6495	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4556G>C	chr16.hg19:g.24582943G>C	ENSP00000317872:p.Arg1519Thr		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	hg19	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805084	0.50315	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.19105	2.17;2.4;2.41	6.03	1.9	0.25705	.	0.190657	0.41396	D	0.000897	T	0.12475	0.0303	L	0.27053	0.805	0.27887	N	0.939455	P;B;B	0.39480	0.675;0.241;0.155	B;B;B	0.35550	0.205;0.148;0.071	T	0.12502	-1.0545	10	0.30078	T	0.28	-17.338	10.6299	0.45530	0.2533:0.0:0.7467:0.0	.	679;1485;1519	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	T	679;1519;1485	ENSP00000370427:R679T;ENSP00000317872:R1519T;ENSP00000316291:R1485T	ENSP00000317872:R1519T	R	+	2	0	RBBP6	24490444	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.017000	0.49615	0.428000	0.26173	0.557000	0.71058	AGA		0.358	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		C	24582943	G	C	24582943	3	2	629	1	0	0	0	0	1	0	0	0	13109	942	33	4	4680	4	RBBP6	16	24582943	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08		24582943	65771810	67	34245											
RPGRIP1L	23322	hgsc.bcm.edu	37	16	53691402	53691402	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr16:53691402A>G	ENST00000379925.3	-	13	1594	c.1544T>C	c.(1543-1545)aTg>aCg	p.M515T	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.M515T|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.M515T|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.M515T	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	515					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CATAATTAGCATGTTTCTTGT	0.313																																																0													88	81	83					16																	53691402		2196	4300	6496	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1544T>C	chr16.hg19:g.53691402A>G	ENSP00000369257:p.Met515Thr		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	hg19	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138906	0.77775	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;D	0.81579	-0.02;-1.51	6.04	6.04	0.98038	.	0.099515	0.64402	D	0.000001	D	0.87834	0.6277	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.76494	0.972;0.972;0.972;0.999	P;P;P;D	0.68765	0.632;0.706;0.706;0.96	D	0.86184	0.1608	10	0.30078	T	0.28	-18.3503	14.8183	0.70052	1.0:0.0:0.0:0.0	.	515;515;515;515	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	T	515	ENSP00000369257:M515T;ENSP00000262135:M515T	ENSP00000262135:M515T	M	-	2	0	RPGRIP1L	52248903	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.353000	0.90077	2.317000	0.78254	0.460000	0.39030	ATG		0.313	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		G	53691402	A	G	53691402	3	3	629	1	0	0	0	0	1	0	0	0	13556	217	8	3	2463	3	RPGRIP1L	16	53691402	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	29108459	53691402	36663351	68	34246											
ADAP2	55803	hgsc.bcm.edu	37	17	29261211	29261211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:29261211delG	ENST00000330889.3	+	5	741	c.406delG	c.(406-408)gaafs	p.E136fs	ADAP2_ENST00000580525.1_Frame_Shift_Del_p.E142fs	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	136	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGGTAACCGAGAAGGATTCCT	0.478																																																1	Unknown(1)	central_nervous_system(1)											96	80	85					17																	29261211		2203	4300	6503	SO:0001589	frameshift_variant	55803			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.406delG	chr17.hg19:g.29261211delG	ENSP00000329468:p.Glu136fs		Q8N4Q6|Q96SD5	Frame_Shift_Del	DEL	ENST00000330889.3	hg19	CCDS11261.1																																																																																				0.478	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		-	29261211	G	-	29261211	7	5	629	1	0	1	0	1	0	0	0	0	280	943	33	0	424	0	ADAP2	17	29261211	Frame_Shift_Del	DEL	G	TCGA-DZ-6132-01A-11D-1961-08		29261211	51933999	69	34247											
CBX1	10951	hgsc.bcm.edu	37	17	46152378	46152378	+	Silent	SNP	G	G	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:46152378G>A	ENST00000393408.3	-	4	883	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	CBX1_ENST00000225603.4_Silent_p.L135L|CBX1_ENST00000495350.1_Silent_p.L135L	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	135	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CATTTCATCAGGAACATGAGC	0.483																																					NSCLC(136;694 2497 38792 39034)											0													137	138	138					17																	46152378		2203	4300	6503	SO:0001819	synonymous_variant	10951			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"HP1 beta homolog (Drosophila )"	604511	"chromobox homolog 1 (Drosophila HP1 beta)"			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.403C>T	chr17.hg19:g.46152378G>A			P23197	Silent	SNP	ENST00000393408.3	hg19	CCDS11525.1																																																																																				0.483	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		A	46152378	G	A	46152378	2	1	629	1	0	0	0	0	0	0	0	1	2719	991	35	2		2	CBX1	17	46152378	Silent	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	16891167	46152378	35042832	70	34248											
MTMR4	9110	hgsc.bcm.edu	37	17	56572475	56572475	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:56572475C>T	ENST00000323456.5	-	16	3152	c.3028G>A	c.(3028-3030)Gat>Aat	p.D1010N	MTMR4_ENST00000579925.1_Missense_Mutation_p.D953N	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1010					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATCATCATCCAAATACAGA	0.512																																																0													204	179	187					17																	56572475		2203	4300	6503	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3028G>A	chr17.hg19:g.56572475C>T	ENSP00000325285:p.Asp1010Asn		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	hg19	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689025	0.88735	.	.	ENSG00000108389	ENST00000323456	D	0.96885	-4.16	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	L	0.58101	1.795	0.48452	D	0.999659	D	0.89917	1.0	D	0.85130	0.997	D	0.98181	1.0457	10	0.66056	D	0.02	.	18.5538	0.91075	0.0:1.0:0.0:0.0	.	1010	Q9NYA4	MTMR4_HUMAN	N	1010	ENSP00000325285:D1010N	ENSP00000325285:D1010N	D	-	1	0	MTMR4	53927474	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.104000	0.77024	2.627000	0.88993	0.555000	0.69702	GAT		0.512	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		T	56572475	C	T	56572475	3	4	629	1	0	0	0	0	1	0	0	0	9948	855	30	2	575	2	MTMR4	17	56572475	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	10420097	56572475	24622735	71	34249											
CLTC	1213	hgsc.bcm.edu	37	17	57771125	57771125	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:57771125T>C	ENST00000269122.3	+	32	5214	c.4940T>C	c.(4939-4941)gTt>gCt	p.V1647A	CLTC_ENST00000579456.1_Missense_Mutation_p.V584A	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1647	Heavy chain arm.|Proximal segment.|Trimerization. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGACCCAGTGTTGCCGTCCCT	0.557			T	"ALK, TFE3"	"ALCL, renal "																																		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													144	116	125					17																	57771125		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4940T>C	chr17.hg19:g.57771125T>C	ENSP00000269122:p.Val1647Ala		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	hg19	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.923961	0.34002	.	.	ENSG00000141367	ENST00000269122	T	0.10668	2.85	6.08	6.08	0.98989	.	0.052581	0.85682	D	0.000000	T	0.07728	0.0194	N	0.14661	0.345	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.36212	-0.9757	10	0.14252	T	0.57	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1647	Q00610	CLH1_HUMAN	A	1647	ENSP00000269122:V1647A	ENSP00000269122:V1647A	V	+	2	0	CLTC	55125907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.162000	0.71874	2.333000	0.79357	0.533000	0.62120	GTT		0.557	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		C	57771125	T	C	57771125	3	2	629	1	0	0	0	0	1	0	0	0	3568	1725	60	3	5066	3	CLTC	17	57771125	Missense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08	1198650	57771125	23424085	72	34250											
INTS2	57508	hgsc.bcm.edu	37	17	59945081	59945082	+	In_Frame_Ins	INS	-	-	GAA			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:59945081_59945082insGAA	ENST00000444766.3	-	25	3526_3527	c.3451_3452insTTC	c.(3451-3453)caa>cTTCaa	p.1150_1151insL	INTS2_ENST00000251334.6_In_Frame_Ins_p.1142_1143insL	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1150					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CTTTATTTGTTGAAGACCTACA	0.351																																																0																																										SO:0001652	inframe_insertion	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3449_3451dupTTC	chr17.hg19:g.59945082_59945084dupGAA	ENSP00000414237:p.Leu1150_Leu1150dup		Q9ULD3	In_Frame_Ins	INS	ENST00000444766.3	hg19	CCDS45750.1																																																																																				0.351	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		GAA	59945082	-	GAA	59945081	7	5	629	1	0	1	1	0	0	0	0	0	7780	1812	63	0	166	0	INTS2	17	59945081	In_Frame_Ins	INS	-	TCGA-DZ-6132-01A-11D-1961-08	2173956	59945081	21250129	73	34251											
ACE	1636	hgsc.bcm.edu	37	17	61570904	61570904	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:61570904G>T	ENST00000290866.4	+	20	3044	c.3020G>T	c.(3019-3021)aGg>aTg	p.R1007M	ACE_ENST00000428043.1_Missense_Mutation_p.R1007M|ACE_ENST00000413513.3_Missense_Mutation_p.R433M|ACE_ENST00000290863.6_Missense_Mutation_p.R433M|ACE_ENST00000421982.2_Missense_Mutation_p.R253M|ACE_ENST00000577647.1_Missense_Mutation_p.R433M|ACE_ENST00000490216.2_Missense_Mutation_p.R433M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1007	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTGGCCTTGAGGGAGGGTGCC	0.582																																																0													80	74	76					17																	61570904		2203	4300	6503	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3020G>T	chr17.hg19:g.61570904G>T	ENSP00000290866:p.Arg1007Met		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	hg19	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618950	0.46736	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	H	0.97340	3.985	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.999;1.0	D;D;D;D	0.97110	0.992;0.976;0.986;1.0	D	0.88380	0.3001	10	0.87932	D	0	-34.8796	18.0898	0.89471	0.0:0.0:1.0:0.0	.	253;433;433;1007	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	M	1007;1007;433;433;253	ENSP00000290866:R1007M;ENSP00000397593:R1007M;ENSP00000290863:R433M;ENSP00000392247:R433M;ENSP00000387760:R253M	ENSP00000290863:R433M	R	+	2	0	ACE	58924636	1.000000	0.71417	0.966000	0.40874	0.792000	0.44763	7.975000	0.88055	2.262000	0.75019	0.561000	0.74099	AGG		0.582	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			T	61570904	G	T	61570904	3	4	629	1	0	0	0	0	1	0	0	0	136	1000	35	4	3301	4	ACE	17	61570904	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	1625823	61570904	19624306	74	34252											
GRB2	2885	hgsc.bcm.edu	37	17	73316567	73316567	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:73316567C>A	ENST00000392562.1	-	6	1318	c.536G>T	c.(535-537)cGg>cTg	p.R179L	GRB2_ENST00000316615.5_Missense_Mutation_p.R138L|GRB2_ENST00000392564.1_Missense_Mutation_p.R179L|GRB2_ENST00000578961.1_Missense_Mutation_p.G123W|GRB2_ENST00000316804.5_Missense_Mutation_p.R179L|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392563.1_Missense_Mutation_p.R138L			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	179	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.R179L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	AAAATCTCCCCGGCGGAAGCC	0.557																																																1	Substitution - Missense(1)	lung(1)											84	92	89					17																	73316567		2203	4300	6503	SO:0001583	missense	2885				CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"SH2 domain containing"	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.536G>T	chr17.hg19:g.73316567C>A	ENSP00000376345:p.Arg179Leu		P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	hg19	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427609	0.96131	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.45	5.45	0.79879	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.71879	0.3392	M	0.83953	2.67	0.80722	D	1	D;D	0.76494	0.999;0.964	D;P	0.69307	0.963;0.895	T	0.73357	-0.4008	10	0.52906	T	0.07	-32.5557	19.4688	0.94954	0.0:1.0:0.0:0.0	.	138;179	P62993-2;P62993	.;GRB2_HUMAN	L	179;179;179;138;138	ENSP00000339007:R179L;ENSP00000376345:R179L;ENSP00000376347:R179L;ENSP00000376346:R138L;ENSP00000317360:R138L	ENSP00000317360:R138L	R	-	2	0	GRB2	70828162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.921000	0.70028	2.838000	0.97847	0.561000	0.74099	CGG		0.557	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			A	73316567	C	A	73316567	3	1	629	1	0	0	0	0	1	0	0	0	6760	652	23	4	121	4	GRB2	17	73316567	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	11745663	73316567	7878643	75	34253											
BAIAP2	10458	hgsc.bcm.edu	37	17	79082274	79082274	+	Splice_Site	DEL	G	G	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr17:79082274delG	ENST00000321300.6	+	13	1593		c.e13-1		BAIAP2_ENST00000575712.1_Splice_Site|BAIAP2_ENST00000435091.3_Splice_Site|BAIAP2_ENST00000428708.2_Splice_Site|BAIAP2_ENST00000321280.7_Splice_Site|BAIAP2_ENST00000392411.3_Splice_Site|BAIAP2_ENST00000416299.2_Splice_Site|BAIAP2_ENST00000575245.1_Splice_Site	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2						actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCTGCCCCCAGGGCCTGGATG	0.637																																																0													72	70	71					17																	79082274		2203	4300	6503	SO:0001630	splice_region_variant	10458			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1501-1G>-	chr17.hg19:g.79082274delG			O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Splice_Site	DEL	ENST00000321300.6	hg19	CCDS11775.1																																																																																				0.637	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1		Intron	-	79082274	G	-	79082274	8	5	629	1	0	1	0	1	0	0	1	0	1301	1014	35	0	1550	0	BAIAP2	17	79082274	Splice_Site	DEL	G	TCGA-DZ-6132-01A-11D-1961-08	5765707	79082274	2112936	76	34254											
DYM	54808	hgsc.bcm.edu	37	18	46956680	46956680	+	Missense_Mutation	SNP	T	T	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr18:46956680T>G	ENST00000269445.6	-	2	542	c.85A>C	c.(85-87)Aat>Cat	p.N29H	DYM_ENST00000442713.2_Missense_Mutation_p.N29H|DYM_ENST00000584977.1_5'UTR|RP11-110H1.9_ENST00000583579.1_RNA	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	29					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AACGGGTCATTCTCAGAGATA	0.423																																																0													147	146	146					18																	46956680		2203	4300	6503	SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.85A>C	chr18.hg19:g.46956680T>G	ENSP00000269445:p.Asn29His		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	hg19	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571437	0.45798	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.82893	-1.66;-1.66	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	M	0.78801	2.425	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.78314	0.991;0.983	D	0.91823	0.5469	10	0.87932	D	0	-23.1803	15.1469	0.72662	0.0:0.0:0.0:1.0	.	29;29	Q7RTS9-2;Q7RTS9	.;DYM_HUMAN	H	29	ENSP00000395942:N29H;ENSP00000269445:N29H	ENSP00000269445:N29H	N	-	1	0	DYM	45210678	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.007000	0.76335	2.371000	0.80710	0.533000	0.62120	AAT		0.423	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		G	46956680	T	G	46956680	3	3	629	1	0	0	0	0	1	0	0	0	4842	1783	62	5	1988	5	DYM	18	46956680	Missense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08		46956680	31120568	77	34255											
SOCS6	9306	hgsc.bcm.edu	37	18	67992496	67992496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr18:67992496delA	ENST00000397942.3	+	2	908	c.592delA	c.(592-594)aatfs	p.N198fs	SOCS6_ENST00000582322.1_Frame_Shift_Del_p.N198fs	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	198					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GGCTTCTCATAATGGAGACCT	0.512																																					Melanoma(84;1024 1361 24382 36583 42651)											0													108	94	99					18																	67992496		2203	4300	6503	SO:0001589	frameshift_variant	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.592delA	chr18.hg19:g.67992496delA	ENSP00000381034:p.Asn198fs		Q8WUM3	Frame_Shift_Del	DEL	ENST00000397942.3	hg19	CCDS11998.1																																																																																				0.512	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			-	67992496	A	-	67992496	7	5	629	1	0	1	0	1	0	0	0	0	14924	362	13	0	594	0	SOCS6	18	67992496	Frame_Shift_Del	DEL	A	TCGA-DZ-6132-01A-11D-1961-08	21035816	67992496	10084752	78	34256											
MYO1F	4542	hgsc.bcm.edu	37	19	8616967	8616967	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:8616967G>T	ENST00000338257.8	-	7	853	c.586C>A	c.(586-588)Cgc>Agc	p.R196S	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	196	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R196S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATGACCACGCGGGACTTCTCC	0.572																																																1	Substitution - Missense(1)	kidney(1)											92	93	93					19																	8616967		1977	4198	6175	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.586C>A	chr19.hg19:g.8616967G>T	ENSP00000344871:p.Arg196Ser		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	hg19	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461130	0.63513	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.96885	-4.16	3.93	2.82	0.32997	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.98865	0.9616	H	0.99336	4.52	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;0.993	D	0.98183	1.0458	10	0.87932	D	0	.	12.9806	0.58562	0.0:0.0:0.827:0.173	.	196;196;196	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	S	241;196	ENSP00000344871:R196S	ENSP00000304899:R241S	R	-	1	0	MYO1F	8522967	0.996000	0.38824	0.995000	0.50966	0.987000	0.75469	2.332000	0.43903	2.048000	0.60808	0.460000	0.39030	CGC		0.572	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			T	8616967	G	T	8616967	3	4	629	1	0	0	0	0	1	0	0	0	10075	1116	39	4	2798	4	MYO1F	19	8616967	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08		8616967	50512016	79	34257											
ZNF699	374879	hgsc.bcm.edu	37	19	9406673	9406673	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:9406673G>C	ENST00000591998.1	-	6	1635	c.1407C>G	c.(1405-1407)caC>caG	p.H469Q	ZNF699_ENST00000308650.3_Missense_Mutation_p.H469Q|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTTCCAGTGTGATCTCTCA	0.458																																																0													60	64	63					19																	9406673		2200	4296	6496	SO:0001583	missense	374879			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1407C>G	chr19.hg19:g.9406673G>C	ENSP00000467723:p.His469Gln		Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	hg19	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	g	13.65	2.301105	0.40694	.	.	ENSG00000196110	ENST00000308650	T	0.66995	-0.24	3.28	-0.0525	0.13822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39407	N	0.001377	T	0.80008	0.4545	M	0.90425	3.115	0.24473	N	0.994389	D	0.71674	0.998	D	0.75484	0.986	T	0.68796	-0.5314	10	0.87932	D	0	.	5.9659	0.19325	0.4949:0.0:0.5051:0.0	.	469	Q32M78	ZN699_HUMAN	Q	469	ENSP00000311596:H469Q	ENSP00000311596:H469Q	H	-	3	2	ZNF699	9267673	0.909000	0.30893	0.019000	0.16419	0.771000	0.43674	0.275000	0.18698	0.085000	0.17107	0.550000	0.68814	CAC		0.458	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		C	9406673	G	C	9406673	3	2	629	1	0	0	0	0	1	0	0	0	18106	1368	48	4	525	4	ZNF699	19	9406673	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	789706	9406673	49722310	80	34258											
ATG4D	84971	hgsc.bcm.edu	37	19	10655668	10655668	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:10655668C>A	ENST00000309469.4	+	3	528	c.355C>A	c.(355-357)Cgc>Agc	p.R119S	ATG4D_ENST00000540862.1_5'Flank	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	119					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTTTGTGTCCCGCCTGTGGCT	0.657																																																0													87	97	94					19																	10655668		2203	4300	6503	SO:0001583	missense	84971			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.355C>A	chr19.hg19:g.10655668C>A	ENSP00000311318:p.Arg119Ser		Q969K0	Missense_Mutation	SNP	ENST00000309469.4	hg19	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686824	0.48097	.	.	ENSG00000130734	ENST00000309469	T	0.48201	0.82	5.06	2.88	0.33553	.	0.292459	0.30538	N	0.009414	T	0.70561	0.3238	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77557	0.988;0.974;0.99	T	0.70676	-0.4806	10	0.72032	D	0.01	7.4899	6.9005	0.24281	0.3089:0.6081:0.0:0.0831	.	56;142;119	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	S	119	ENSP00000311318:R119S	ENSP00000311318:R119S	R	+	1	0	ATG4D	10516668	0.661000	0.27430	0.758000	0.31321	0.002000	0.02628	1.319000	0.33655	0.503000	0.28060	-0.196000	0.12772	CGC		0.657	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		A	10655668	C	A	10655668	3	1	629	1	0	0	0	0	1	0	0	0	1099	652	23	4	365	4	ATG4D	19	10655668	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	1248995	10655668	48473315	81	34259											
UNC13A	23025	hgsc.bcm.edu	37	19	17763482	17763482	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:17763482C>A	ENST00000519716.2	-	12	1396	c.1397G>T	c.(1396-1398)cGg>cTg	p.R466L	UNC13A_ENST00000551649.1_Missense_Mutation_p.R466L|UNC13A_ENST00000428389.2_Missense_Mutation_p.R554L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R466L|UNC13A_ENST00000550896.1_Missense_Mutation_p.R466L|UNC13A_ENST00000552293.1_Missense_Mutation_p.R466L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	466					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCCTTCTCCCCGGGCCTGCAG	0.572																																																0													220	223	222					19																	17763482		1949	4140	6089	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1397G>T	chr19.hg19:g.17763482C>A	ENSP00000429562:p.Arg466Leu		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	10.57	1.385968	0.25031	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80994	-1.43;-1.44;-1.43;-1.29;-1.3;-1.43	4.06	4.06	0.47325	.	0.640937	0.11863	U	0.522146	T	0.69682	0.3138	N	0.24115	0.695	0.35688	D	0.814642	B	0.09022	0.002	B	0.09377	0.004	T	0.67213	-0.5727	10	0.27082	T	0.32	-3.9885	13.7484	0.62890	0.0:1.0:0.0:0.0	.	466	Q9UPW8	UN13A_HUMAN	L	466;554;466;466;466;466	ENSP00000429562:R466L;ENSP00000400409:R554L;ENSP00000252773:R466L;ENSP00000447236:R466L;ENSP00000447572:R466L;ENSP00000446831:R466L	ENSP00000252773:R466L	R	-	2	0	UNC13A	17624482	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	2.345000	0.44018	2.103000	0.63969	0.491000	0.48974	CGG		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		A	17763482	C	A	17763482	3	1	629	1	0	0	0	0	1	0	0	0	16989	652	23	4	3838	4	UNC13A	19	17763482	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	7107814	17763482	41365501	82	34260											
PIK3R2	5296	hgsc.bcm.edu	37	19	18274091	18274091	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:18274091G>A	ENST00000593731.1	+	11	1869	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	PIK3R2_ENST00000222254.8_Missense_Mutation_p.D437N			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	437					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	TGTCAAGGAGGACAGCGTGGA	0.577																																																0													125	107	113					19																	18274091		2203	4300	6503	SO:0001583	missense	5296				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1309G>A	chr19.hg19:g.18274091G>A	ENSP00000471914:p.Asp437Asn		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	hg19	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719551	0.48728	.	.	ENSG00000105647	ENST00000222254	T	0.47869	0.83	4.08	4.08	0.47627	.	0.102115	0.64402	D	0.000002	T	0.40171	0.1106	L	0.43152	1.355	0.42153	D	0.991565	B	0.19583	0.037	B	0.15052	0.012	T	0.38950	-0.9637	10	0.52906	T	0.07	-47.255	12.9549	0.58421	0.0:0.0:0.8377:0.1623	.	437	O00459	P85B_HUMAN	N	437	ENSP00000222254:D437N	ENSP00000222254:D437N	D	+	1	0	PIK3R2	18135091	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.262000	0.65501	2.216000	0.71823	0.561000	0.74099	GAC		0.577	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		A	18274091	G	A	18274091	3	1	629	1	0	0	0	0	1	0	0	0	11921	1174	41	2	1347	2	PIK3R2	19	18274091	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	510609	18274091	40854892	83	34261											
ZNF85	7639	hgsc.bcm.edu	37	19	21132138	21132138	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:21132138T>C	ENST00000328178.8	+	4	931	c.818T>C	c.(817-819)cTt>cCt	p.L273P	ZNF85_ENST00000345030.6_Missense_Mutation_p.L240P|ZNF85_ENST00000601023.1_Missense_Mutation_p.L214P	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	273					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TTCTCAACTCTTACTACCCAT	0.348																																																0													26	29	28					19																	21132138		2193	4286	6479	SO:0001583	missense	7639			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.818T>C	chr19.hg19:g.21132138T>C	ENSP00000329793:p.Leu273Pro		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	hg19	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	11.50	1.657272	0.29425	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.53857	0.6;0.6	1.35	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76263	0.3963	H	0.94620	3.56	0.25920	N	0.983126	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63350	-0.6657	9	0.87932	D	0	.	7.5498	0.27790	0.0:0.0:0.0:1.0	.	240;214;273	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	P	273;240;148	ENSP00000329793:L273P;ENSP00000342340:L240P	ENSP00000329793:L273P	L	+	2	0	ZNF85	20923978	0.117000	0.22190	0.004000	0.12327	0.013000	0.08279	2.803000	0.47924	0.569000	0.29329	0.379000	0.24179	CTT		0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		C	21132138	T	C	21132138	3	2	629	1	0	0	0	0	1	0	0	0	18198	1609	56	3	832	3	ZNF85	19	21132138	Missense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08	2858047	21132138	37996845	84	34262											
SUPT5H	6829	hgsc.bcm.edu	37	19	39964723	39964723	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:39964723C>A	ENST00000599117.1	+	27	2980	c.2613C>A	c.(2611-2613)aaC>aaA	p.N871K	SUPT5H_ENST00000359191.6_Missense_Mutation_p.N867K|SUPT5H_ENST00000402194.2_Missense_Mutation_p.N867K|SUPT5H_ENST00000432763.2_Missense_Mutation_p.N871K|SUPT5H_ENST00000598725.1_Missense_Mutation_p.N871K			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	871	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACAGGTCAACCCACAATACA	0.647											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													84	89	87					19																	39964723		2203	4300	6503	SO:0001583	missense	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2613C>A	chr19.hg19:g.39964723C>A	ENSP00000470252:p.Asn871Lys	889	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	hg19	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910409	0.52439	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.36	3.19	0.36642	.	0.043680	0.85682	D	0.000000	T	0.51652	0.1687	L	0.53249	1.67	0.58432	D	0.999995	B;B;B	0.34200	0.367;0.387;0.441	B;B;B	0.37550	0.253;0.131;0.206	T	0.48736	-0.9009	8	.	.	.	-34.0435	10.5839	0.45271	0.0:0.8333:0.0:0.1667	.	663;867;871	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	K	871;867;849;871	.	.	N	+	3	2	SUPT5H	44656563	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.352000	0.44080	1.235000	0.43724	0.462000	0.41574	AAC		0.647	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		A	39964723	C	A	39964723	3	1	629	1	0	0	0	0	1	0	0	0	15404	506	18	4	2711	4	SUPT5H	19	39964723	Missense_Mutation	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	18832585	39964723	19164260	85	34263											
ZNF223	7766	hgsc.bcm.edu	37	19	44570872	44570872	+	Silent	SNP	C	C	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:44570872C>T	ENST00000434772.3	+	5	1146	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ZNF223_ENST00000591793.1_Silent_p.F407F	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GTGTGAGCTTCCGTCTTAGGT	0.448																																																0													131	126	128					19																	44570872		2203	4300	6503	SO:0001819	synonymous_variant	7766			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.891C>T	chr19.hg19:g.44570872C>T			Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	hg19	CCDS12635.1																																																																																				0.448	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			T	44570872	C	T	44570872	2	4	629	1	0	0	0	0	0	0	0	1	17782	854	30	2		2	ZNF223	19	44570872	Silent	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	4606149	44570872	14558111	86	34264											
FCGRT	2217	hgsc.bcm.edu	37	19	50017313	50017313	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:50017313A>G	ENST00000221466.5	+	3	734	c.248A>G	c.(247-249)tAt>tGt	p.Y83C	FCGRT_ENST00000596975.1_Missense_Mutation_p.Y83C|FCGRT_ENST00000426395.3_Missense_Mutation_p.Y83C|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000594823.1_3'UTR	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	83	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GTGTCCTGGTATTGGGAGAAA	0.582																																																0													41	47	45					19																	50017313		2203	4300	6503	SO:0001583	missense	2217			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.248A>G	chr19.hg19:g.50017313A>G	ENSP00000221466:p.Tyr83Cys		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	hg19	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.150611	0.57151	.	.	ENSG00000104870	ENST00000221466;ENST00000426395;ENST00000415900;ENST00000452439	T;T	0.01185	5.21;5.21	4.83	2.61	0.31194	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.374848	0.19651	N	0.109214	T	0.07369	0.0186	M	0.93197	3.39	0.41878	D	0.990305	D	0.89917	1.0	D	0.83275	0.996	T	0.00662	-1.1621	10	0.87932	D	0	.	3.4456	0.07480	0.6789:0.0:0.1082:0.2129	.	83	P55899	FCGRN_HUMAN	C	83	ENSP00000221466:Y83C;ENSP00000410798:Y83C	ENSP00000221466:Y83C	Y	+	2	0	FCGRT	54709125	0.976000	0.34144	0.999000	0.59377	0.876000	0.50452	2.603000	0.46266	0.868000	0.35678	0.459000	0.35465	TAT		0.582	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			G	50017313	A	G	50017313	3	3	629	1	0	0	0	0	1	0	0	0	5788	449	16	3	254	3	FCGRT	19	50017313	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	5446441	50017313	9111670	87	34265											
ZNF473	25888	hgsc.bcm.edu	37	19	50549983	50549983	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:50549983G>C	ENST00000595661.1	+	6	2778	c.2283G>C	c.(2281-2283)caG>caC	p.Q761H	ZNF473_ENST00000391821.2_Missense_Mutation_p.Q761H|ZNF473_ENST00000445728.3_Missense_Mutation_p.Q749H|ZNF473_ENST00000270617.3_Missense_Mutation_p.Q761H|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	761					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ATGTTTGTCAGGAATGCGGGA	0.522											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													80	80	80					19																	50549983		2203	4300	6503	SO:0001583	missense	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2283G>C	chr19.hg19:g.50549983G>C	ENSP00000472808:p.Gln761His	970	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	hg19	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247320	0.39697	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.07800	3.16;3.16;3.16	3.84	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.611213	0.13601	N	0.375867	T	0.07007	0.0178	N	0.02916	-0.46	0.25928	N	0.983026	D	0.61080	0.989	P	0.60173	0.87	T	0.30446	-0.9978	10	0.44086	T	0.13	-0.3948	5.7557	0.18172	0.3335:0.0:0.6665:0.0	.	761	Q8WTR7	ZN473_HUMAN	H	761;761;749	ENSP00000270617:Q761H;ENSP00000375697:Q761H;ENSP00000388961:Q749H	ENSP00000270617:Q761H	Q	+	3	2	ZNF473	55241795	0.000000	0.05858	0.978000	0.43139	0.764000	0.43329	-1.663000	0.01968	0.603000	0.29913	0.650000	0.86243	CAG		0.522	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		C	50549983	G	C	50549983	3	2	629	1	0	0	0	0	1	0	0	0	17936	991	35	4	2297	4	ZNF473	19	50549983	Missense_Mutation	SNP	G	TCGA-DZ-6132-01A-11D-1961-08	532670	50549983	8579000	88	34266											
TTYH1	57348	hgsc.bcm.edu	37	19	54937848	54937848	+	Splice_Site	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:54937848A>G	ENST00000376530.3	+	5	741		c.e5-1		TTYH1_ENST00000391739.3_Splice_Site|TTYH1_ENST00000301194.4_Splice_Site|TTYH1_ENST00000489425.1_Splice_Site|TTYH1_ENST00000376531.3_Splice_Site	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1						cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTCCCCTCCCAGGTGGCTGGC	0.652																																																1	Unknown(1)	upper_aerodigestive_tract(1)											96	79	85					19																	54937848		2203	4300	6503	SO:0001630	splice_region_variant	57348			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.639-1A>G	chr19.hg19:g.54937848A>G			B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Splice_Site	SNP	ENST00000376530.3	hg19	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478123	0.63849	.	.	ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2014	0.54328	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTYH1	59629660	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.433000	0.59929	1.836000	0.53414	0.459000	0.35465	.		0.652	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1		Intron	G	54937848	A	G	54937848	5	3	629	1	0	0	0	0	0	0	1	0	16744	202	7	3	655	3	TTYH1	19	54937848	Splice_Site	SNP	A	TCGA-DZ-6132-01A-11D-1961-08	4387865	54937848	4191135	89	34267											
KIR2DL4	3811	hgsc.bcm.edu	37	19	55324637	55324637	+	Intron	SNP	C	C	T			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr19:55324637C>T	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Missense_Mutation_p.T253I|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.T255I			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATCCTCTTTACCATCCTTCCC	0.502																																																0													120	185	164					19																	55324637		2009	4160	6169	SO:0001627	intron_variant	3805			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4352C>T	chr19.hg19:g.55324637C>T			O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	hg19		.	.	.	.	.	.	.	.	.	.	c	0	-2.781565	0.00079	.	.	ENSG00000189013	ENST00000396284;ENST00000359085;ENST00000396289	T;T;T	0.00454	7.39;7.32;7.4	0.569	-1.14	0.09741	.	6.239890	0.01410	N	0.013962	T	0.00271	0.0008	N	0.25060	0.705	0.09310	N	1	B;B;B	0.16802	0.019;0.0;0.001	B;B;B	0.23852	0.049;0.002;0.016	T	0.46596	-0.9180	9	0.28530	T	0.3	.	.	.	.	.	255;253;238	Q99706;E7EST5;Q99706-2	KI2L4_HUMAN;.;.	I	253;255;253	ENSP00000379580:T253I;ENSP00000351988:T255I;ENSP00000379584:T253I	ENSP00000351988:T255I	T	+	2	0	KIR2DL4	60016449	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.795000	0.00764	-1.106000	0.03008	-1.140000	0.01884	ACC		0.502	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		T	55324637	C	T	55324637	1	4	629	0	1	0	0	0	0	0	0	0	8320	507	18	2		2	KIR2DL4	19	55324637	Intron	SNP	C	TCGA-DZ-6132-01A-11D-1961-08	386789	55324637	3804346	90	34268											
STAU1	6780	hgsc.bcm.edu	37	20	47741019	47741019	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr20:47741019T>A	ENST00000371856.2	-	7	1125	c.715A>T	c.(715-717)Aaa>Taa	p.K239*	STAU1_ENST00000347458.5_Nonsense_Mutation_p.K158*|STAU1_ENST00000371792.1_Nonsense_Mutation_p.K158*|STAU1_ENST00000371802.1_Nonsense_Mutation_p.K164*|STAU1_ENST00000360426.4_Nonsense_Mutation_p.K158*|STAU1_ENST00000340954.7_Nonsense_Mutation_p.K158*|STAU1_ENST00000371828.3_Nonsense_Mutation_p.K164*	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	239	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCGGCATTTTTCTTTGAAATC	0.483																																																0													150	167	161					20																	47741019		2203	4300	6503	SO:0001587	stop_gained	6780				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.715A>T	chr20.hg19:g.47741019T>A	ENSP00000360922:p.Lys239*		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Nonsense_Mutation	SNP	ENST00000371856.2	hg19	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	T	39	7.406203	0.98265	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	.	.	.	5.33	5.33	0.75918	.	0.087311	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.3231	15.3236	0.74141	0.0:0.0:0.0:1.0	.	.	.	.	X	164;158;239;158;158;158;164;158;164	.	ENSP00000345425:K158X	K	-	1	0	STAU1	47174426	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.036000	0.88901	2.017000	0.59298	0.528000	0.53228	AAA		0.483	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		A	47741019	T	A	47741019	4	1	629	1	0	0	0	0	0	1	0	0	15277	1792	62	5	1050	5	STAU1	20	47741019	Nonsense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08		47741019	15284501	91	34269											
DSCAM	1826	hgsc.bcm.edu	37	21	41496202	41496202	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chr21:41496202A>G	ENST00000400454.1	-	20	4093	c.3616T>C	c.(3616-3618)Ttt>Ctt	p.F1206L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1206	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGACACAAAGACCATGGAG	0.562																																					Melanoma(134;970 1778 1785 21664 32388)											0													103	116	112					21																	41496202		2044	4179	6223	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3616T>C	chr21.hg19:g.41496202A>G	ENSP00000383303:p.Phe1206Leu		O60468	Missense_Mutation	SNP	ENST00000400454.1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	9.620	1.133520	0.21041	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.55413	0.52;0.52	5.2	4.05	0.47172	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054089	0.85682	D	0.000000	T	0.26085	0.0636	N	0.02830	-0.485	0.37429	D	0.913953	P	0.35192	0.489	B	0.39379	0.298	T	0.32322	-0.9911	10	0.02654	T	1	.	10.7978	0.46470	0.9249:0.0:0.0751:0.0	.	1206	O60469	DSCAM_HUMAN	L	1206;958	ENSP00000383303:F1206L;ENSP00000385342:F958L	ENSP00000383303:F1206L	F	-	1	0	DSCAM	40418072	1.000000	0.71417	0.998000	0.56505	0.602000	0.36980	5.892000	0.69790	0.805000	0.34159	-0.371000	0.07208	TTT		0.562	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		G	41496202	A	G	41496202	3	3	629	1	0	0	0	0	1	0	0	0	4770	72	3	3	2478	3	DSCAM	21	41496202	Missense_Mutation	SNP	A	TCGA-DZ-6132-01A-11D-1961-08		41496202	6633693	92	34270											
HDHD1A	8226	hgsc.bcm.edu	37	X	7023838	7023838	+	Missense_Mutation	SNP	T	T	G			TCGA-DZ-6132-01A-11D-1961-08	TCGA-DZ-6132-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	be6d6e8a-236f-4a34-a19c-c7d6290d97f0	499ed479-d046-4343-9bd4-14b7201bdc55	g.chrX:7023838T>G	ENST00000381077.5	-	2	179	c.103A>C	c.(103-105)Aat>Cat	p.N35H	HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Missense_Mutation_p.N58H|HDHD1_ENST00000412827.2_Missense_Mutation_p.N35H|HDHD1_ENST00000540122.1_Missense_Mutation_p.N35H	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	35					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TCATAGCGATTACATATTTCT	0.393																																																0													55	46	49					X																	7023838		1847	4082	5929	SO:0001583	missense	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.103A>C	chrX.hg19:g.7023838T>G	ENSP00000370467:p.Asn35His		B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	hg19	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	c	7.623	0.677318	0.14841	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.30714	3.42;1.52;3.42;3.42;3.42	4.01	4.01	0.46588	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.660693	0.15594	N	0.254263	T	0.23766	0.0575	N	0.21282	0.65	0.09310	N	1	D;B;P;B;B	0.53745	0.962;0.346;0.711;0.045;0.136	B;B;P;B;B	0.46419	0.4;0.382;0.516;0.057;0.201	T	0.05500	-1.0881	10	0.45353	T	0.12	-18.7046	7.1959	0.25853	0.0:0.7837:0.0:0.2163	.	35;35;58;35;35	Q08623-3;Q08623-2;E9PAV8;E7EVH9;Q08623	.;.;.;.;HDHD1_HUMAN	H	35;51;35;58;35;35	ENSP00000370467:N35H;ENSP00000406260:N35H;ENSP00000396452:N58H;ENSP00000441208:N35H;ENSP00000430995:N35H	ENSP00000370467:N35H	N	-	1	0	HDHD1	7033838	0.177000	0.23109	0.002000	0.10522	0.370000	0.29829	0.823000	0.27366	0.559000	0.29153	-0.177000	0.13119	AAT		0.393	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		G	7023838	T	G	7023838	3	3	629	1	0	0	0	0	1	0	0	0	7024	1754	61	5	716	5	HDHD1A	23	7023838	Missense_Mutation	SNP	T	TCGA-DZ-6132-01A-11D-1961-08		7023838	148246722	93	34271											
UBR4	23352	hgsc.bcm.edu	37	1	19448476	19448477	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:19448476_19448477insA	ENST00000375254.3	-	67	9873_9874	c.9846_9847insT	c.(9844-9849)attgccfs	p.A3283fs	UBR4_ENST00000375226.2_Frame_Shift_Ins_p.A3259fs|UBR4_ENST00000375267.2_Frame_Shift_Ins_p.A3283fs|UBR4_ENST00000375217.2_Frame_Shift_Ins_p.A3276fs	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3283					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CGCTGGGCGGCAATCTCTGCAC	0.485																																																0																																										SO:0001589	frameshift_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9847dupT	chr1.hg19:g.19448478_19448478dupA	ENSP00000364403:p.Ala3283fs		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Frame_Shift_Ins	INS	ENST00000375254.3	hg19	CCDS189.1																																																																																				0.485	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		A	19448477	-	A	19448476	7	5	630	1	0	1	1	0	0	0	0	0	16909	710	25	0	5864	0	UBR4	1	19448476	Frame_Shift_Ins	INS	-	TCGA-DZ-6133-01A-11D-1961-08		19448476	229802145	1	34272											
ZNF436	80818	hgsc.bcm.edu	37	1	23688888	23688888	+	Silent	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:23688888C>A	ENST00000314011.4	-	4	1123	c.987G>T	c.(985-987)acG>acT	p.T329T	ZNF436_ENST00000374608.3_Silent_p.T329T	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GCTTCTCTCCCGTGTGGGCTC	0.517																																																0													118	113	114					1																	23688888		2203	4300	6503	SO:0001819	synonymous_variant	80818			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.987G>T	chr1.hg19:g.23688888C>A			Q658I9	Silent	SNP	ENST00000314011.4	hg19	CCDS233.1																																																																																				0.517	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		A	23688888	C	A	23688888	2	1	630	1	0	0	0	0	0	0	0	1	17914	639	23	4		4	ZNF436	1	23688888	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	4240412	23688888	225561733	2	34273											
PSMB4	5692	hgsc.bcm.edu	37	1	151372078	151372078	+	Silent	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:151372078G>A	ENST00000290541.6	+	1	69	c.15G>A	c.(13-15)ttG>ttA	p.L5L		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAGCGTTTTTGGGGTCGCGGT	0.542																																																0													56	61	59					1																	151372078		2202	4297	6499	SO:0001819	synonymous_variant	5692			D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"Proteasome (prosome, macropain) subunits"	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.15G>A	chr1.hg19:g.151372078G>A			B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Silent	SNP	ENST00000290541.6	hg19	CCDS996.1																																																																																				0.542	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		A	151372078	G	A	151372078	2	1	630	1	0	0	0	0	0	0	0	1	12684	1339	47	2		2	PSMB4	1	151372078	Silent	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	127683190	151372078	97878543	3	34274											
RIT1	6016	hgsc.bcm.edu	37	1	155870300	155870300	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:155870300C>A	ENST00000368323.3	-	6	743	c.539G>T	c.(538-540)cGg>cTg	p.R180L	RIT1_ENST00000539040.1_Missense_Mutation_p.R144L|RIT1_ENST00000368322.3_Missense_Mutation_p.R197L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	180					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.R180L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			ACGTATCTCCCGTACAAGGGC	0.453																																																2	Substitution - Missense(2)	lung(1)|kidney(1)											243	242	242					1																	155870300		2203	4300	6503	SO:0001583	missense	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.539G>T	chr1.hg19:g.155870300C>A	ENSP00000357306:p.Arg180Leu		B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	hg19	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326793	0.95708	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.79033	-1.23;-1.23;-1.23	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	D	0.88024	0.6326	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.88703	0.3217	10	0.87932	D	0	.	19.6495	0.95795	0.0:1.0:0.0:0.0	.	180	Q92963	RIT1_HUMAN	L	180;144;197	ENSP00000357306:R180L;ENSP00000441950:R144L;ENSP00000357305:R197L	ENSP00000357305:R197L	R	-	2	0	RIT1	154136924	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	6.557000	0.73937	2.746000	0.94184	0.591000	0.81541	CGG		0.453	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		A	155870300	C	A	155870300	3	1	630	1	0	0	0	0	1	0	0	0	13392	652	23	4	124	4	RIT1	1	155870300	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	4498222	155870300	93380321	4	34275											
SPATA17	128153	hgsc.bcm.edu	37	1	217975148	217975148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:217975148G>T	ENST00000366933.4	+	9	1016	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	321						cytoplasm (GO:0005737)		p.E321Q(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCTTACAAAGAACAATTCCG	0.294																																																1	Substitution - Missense(1)	urinary_tract(1)											50	51	51					1																	217975148		2200	4289	6489	SO:0001587	stop_gained	128153			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.961G>T	chr1.hg19:g.217975148G>T	ENSP00000355900:p.Glu321*		A5D6N2	Nonsense_Mutation	SNP	ENST00000366933.4	hg19	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596073	0.46318	.	.	ENSG00000162814	ENST00000366933	.	.	.	4.9	-9.8	0.00490	.	0.673920	0.13287	N	0.399280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.0379	3.3861	0.07272	0.4661:0.3189:0.0955:0.1195	.	.	.	.	X	321	.	ENSP00000355900:E321X	E	+	1	0	SPATA17	216041771	0.011000	0.17503	0.000000	0.03702	0.106000	0.19336	0.664000	0.25068	-2.528000	0.00493	-0.253000	0.11424	GAA		0.294	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		T	217975148	G	T	217975148	4	4	630	1	0	0	0	0	0	1	0	0	15007	943	33	4	995	4	SPATA17	1	217975148	Nonsense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	62104848	217975148	31275473	5	34276											
OBSCN	84033	hgsc.bcm.edu	37	1	228494234	228494234	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:228494234G>A	ENST00000422127.1	+	44	11865	c.11821G>A	c.(11821-11823)Ggc>Agc	p.G3941S	OBSCN_ENST00000366707.4_Missense_Mutation_p.G1575S|OBSCN_ENST00000570156.2_Missense_Mutation_p.G4898S|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3941S|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1060S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3941	Ig-like 40.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGGCTTCAGGGCTGCACCGC	0.632																																																0													31	35	34					1																	228494234		1988	4166	6154	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11821G>A	chr1.hg19:g.228494234G>A	ENSP00000409493:p.Gly3941Ser		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626354	0.66901	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.071555	0.53938	D	0.000043	D	0.85452	0.5700	M	0.89968	3.075	0.32886	D	0.511166	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.89300	0.3625	10	0.48119	T	0.1	.	18.9154	0.92503	0.0:0.0:1.0:0.0	.	3941;3941	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	3941;3941;1575;1060	ENSP00000284548:G3941S;ENSP00000409493:G3941S;ENSP00000355668:G1575S;ENSP00000355670:G1060S	ENSP00000284548:G3941S	G	+	1	0	OBSCN	226560857	1.000000	0.71417	0.595000	0.28798	0.119000	0.20118	7.341000	0.79300	2.488000	0.83962	0.462000	0.41574	GGC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		A	228494234	G	A	228494234	3	1	630	1	0	0	0	0	1	0	0	0	10814	1232	43	2	11991	2	OBSCN	1	228494234	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	10519086	228494234	20756387	6	34277											
ACTR1B	10120	hgsc.bcm.edu	37	2	98277105	98277105	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:98277105C>A	ENST00000289228.5	-	3	334	c.118G>T	c.(118-120)Ggg>Tgg	p.G40W		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	40					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						TTCGGCCGCCCGACACTGTTA	0.592																																																0													87	87	87					2																	98277105		2203	4300	6503	SO:0001583	missense	10120			X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.118G>T	chr2.hg19:g.98277105C>A	ENSP00000289228:p.Gly40Trp		D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	hg19	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.966488	0.74131	.	.	ENSG00000115073	ENST00000289228	D	0.96619	-4.07	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99191	1.0870	10	0.87932	D	0	.	16.8234	0.85924	0.0:1.0:0.0:0.0	.	40	P42025	ACTY_HUMAN	W	40	ENSP00000289228:G40W	ENSP00000289228:G40W	G	-	1	0	ACTR1B	97643537	1.000000	0.71417	0.989000	0.46669	0.390000	0.30446	7.795000	0.85887	2.591000	0.87537	0.561000	0.74099	GGG		0.592	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		A	98277105	C	A	98277105	3	1	630	1	0	0	0	0	1	0	0	0	210	652	23	4	1048	4	ACTR1B	2	98277105	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08		98277105	144922268	7	34278											
MAP4K4	9448	hgsc.bcm.edu	37	2	102493544	102493544	+	Silent	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:102493544C>A	ENST00000347699.4	+	24	2886	c.2886C>A	c.(2884-2886)atC>atA	p.I962I	MAP4K4_ENST00000456652.1_Silent_p.I761I|MAP4K4_ENST00000413150.2_Silent_p.I877I|MAP4K4_ENST00000425019.1_Silent_p.I995I|MAP4K4_ENST00000324219.4_Silent_p.I1043I|MAP4K4_ENST00000350198.4_Silent_p.I881I|MAP4K4_ENST00000350878.4_Silent_p.I1002I|MAP4K4_ENST00000302217.5_Silent_p.I765I	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	962	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATCCTCTTATCAACCGAAGAC	0.453																																																0													180	175	177					2																	102493544		2019	4184	6203	SO:0001819	synonymous_variant	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2886C>A	chr2.hg19:g.102493544C>A			O75172|Q9NST7	Silent	SNP	ENST00000347699.4	hg19	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	9.992	1.230967	0.22542	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	T	0.60314	0.2259	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57974	-0.7718	4	.	.	.	.	8.8578	0.35238	0.15:0.7754:0.0:0.0745	.	.	.	.	K	779	.	.	Q	+	1	0	MAP4K4	101859976	0.991000	0.36638	1.000000	0.80357	0.976000	0.68499	0.386000	0.20702	2.717000	0.92951	0.655000	0.94253	CAA		0.453	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		A	102493544	C	A	102493544	2	1	630	1	0	0	0	0	0	0	0	1	9264	816	29	4		4	MAP4K4	2	102493544	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	4216439	102493544	140705829	8	34279											
UPP2	151531	hgsc.bcm.edu	37	2	158971732	158971732	+	Silent	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:158971732A>G	ENST00000005756.4	+	3	494	c.300A>G	c.(298-300)agA>agG	p.R100R	UPP2_ENST00000605860.1_Silent_p.R157R|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Silent_p.R157R	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	100					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	GGACAGACAGATACTGTATGT	0.458																																																0													105	104	104					2																	158971732		2203	4300	6503	SO:0001819	synonymous_variant	151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.300A>G	chr2.hg19:g.158971732A>G			B3KV87	Silent	SNP	ENST00000005756.4	hg19	CCDS2207.1																																																																																				0.458	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		G	158971732	A	G	158971732	2	3	630	1	0	0	0	0	0	0	0	1	17018	330	12	3		3	UPP2	2	158971732	Silent	SNP	A	TCGA-DZ-6133-01A-11D-1961-08	56478188	158971732	84227641	9	34280											
TTN	7273	hgsc.bcm.edu	37	2	179430006	179430006	+	Silent	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:179430006G>T	ENST00000591111.1	-	276	76154	c.75930C>A	c.(75928-75930)acC>acA	p.T25310T	TTN_ENST00000460472.2_Silent_p.T17886T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.T18078T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Silent_p.T26951T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.T18011T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.T24383T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25310	Ig-like 124.				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)	p.T24381T(1)|p.T17886T(1)|p.T18078T(1)|p.T18011T(1)|p.T24383T(1)		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)			TTGCCGTTACGGTGTATTTTC	0.413																																																5	Substitution - coding silent(5)	lung(5)											131	125	127					2																	179430006		1882	4116	5998	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75930C>A	chr2.hg19:g.179430006G>T			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	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179430006	G	T	179430006	2	4	630	1	0	0	0	0	0	0	0	1	16740	1103	39	4		4	TTN	2	179430006	Silent	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	20458274	179430006	63769367	10	34281											
TTN	7273	hgsc.bcm.edu	37	2	179468605	179468605	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:179468605A>G	ENST00000591111.1	-	232	50110	c.49886T>C	c.(49885-49887)aTa>aCa	p.I16629T	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I9205T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I9397T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I18270T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I9330T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I15702T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16629			I -> M. {ECO:0000269|PubMed:17344846}.		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)			ATACTTACATATGGGATCTCC	0.398																																																0													65	62	63					2																	179468605		1886	4096	5982	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49886T>C	chr2.hg19:g.179468605A>G	ENSP00000465570:p.Ile16629Thr		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.22	1.289353	0.23478	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.06	4.85	0.62838	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36276	0.0961	L	0.52759	1.655	0.33898	D	0.638219	B;B;B;B	0.32245	0.361;0.361;0.361;0.361	B;B;B;B	0.24155	0.051;0.051;0.051;0.051	T	0.55490	-0.8133	9	0.87932	D	0	.	12.2928	0.54827	0.8732:0.0:0.0:0.1268	.	9205;9330;9397;16629	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15702;9205;9397;9330;9205	ENSP00000343764:I15702T;ENSP00000434586:I9205T;ENSP00000340554:I9397T;ENSP00000352154:I9330T	ENSP00000340554:I9397T	I	-	2	0	TTN	179176850	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	1.934000	0.40163	2.323000	0.78572	0.528000	0.53228	ATA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179468605	A	G	179468605	3	3	630	1	0	0	0	0	1	0	0	0	16740	449	16	3	53208	3	TTN	2	179468605	Missense_Mutation	SNP	A	TCGA-DZ-6133-01A-11D-1961-08	38599	179468605	63730768	11	34282											
RPL37A	6168	hgsc.bcm.edu	37	2	217364692	217364692	+	Silent	SNP	T	T	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:217364692T>A	ENST00000491306.1	+	3	839	c.153T>A	c.(151-153)gcT>gcA	p.A51A	RPL37A_ENST00000456586.1_Silent_p.A27A|AC098820.3_ENST00000453157.1_RNA|RPL37A_ENST00000446558.1_Silent_p.A51A|RPL37A_ENST00000598925.1_Silent_p.A27A|RPL37A_ENST00000600880.1_Silent_p.A51A|RPL37A_ENST00000441179.2_Silent_p.A27A|AC098820.3_ENST00000438978.1_RNA|RPL37A_ENST00000427280.2_Silent_p.A27A	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	51					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGACGAGCTGTGGGGATCT	0.443																																																0													129	125	126					2																	217364692		2203	4300	6503	SO:0001819	synonymous_variant	6168				CCDS2404.1	2q35	2011-04-06			ENSG00000197756	ENSG00000197756		"L ribosomal proteins"	10348	protein-coding gene	gene with protein product		613314				1437567	Standard	NM_000998		Approved	L37A	uc002vgf.3	P61513	OTTHUMG00000133052	ENST00000491306.1:c.153T>A	chr2.hg19:g.217364692T>A			P12751|Q6FGF5	Silent	SNP	ENST00000491306.1	hg19	CCDS2404.1																																																																																				0.443	RPL37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256665.2	NM_000998		A	217364692	T	A	217364692	2	1	630	1	0	0	0	0	0	0	0	1	13596	1567	55	5		5	RPL37A	2	217364692	Silent	SNP	T	TCGA-DZ-6133-01A-11D-1961-08	37896087	217364692	25834681	12	34283											
NBEAL2	23218	hgsc.bcm.edu	37	3	47049869	47049869	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:47049869G>A	ENST00000450053.3	+	51	7995	c.7816G>A	c.(7816-7818)Gca>Aca	p.A2606T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2422T|NBEAL2_ENST00000383740.2_Missense_Mutation_p.A855T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2606					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTTCCACCTGGCATTGGGGTC	0.597																																																0													49	48	48					3																	47049869		2037	4171	6208	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7816G>A	chr3.hg19:g.47049869G>A	ENSP00000415034:p.Ala2606Thr		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	hg19	CCDS46817.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.62|16.62|16.62	3.173416|3.173416|3.173416	0.57584|0.57584|0.57584	.|.|.	.|.|.	ENSG00000160796|ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000443829|ENST00000416683	T;T;T|.|.	0.20069|.|.	2.1;2.1;2.1|.|.	5.15|5.15|5.15	5.15|5.15|5.15	0.70609|0.70609|0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.|.	0.716976|.|.	0.13800|.|.	N|.|.	0.361890|.|.	T|T|.	0.71558|0.71558|.	0.3354|0.3354|.	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.38807|0.38807|0.38807	D|D|D	0.955327|0.955327|0.955327	B;B|.|.	0.26845|.|.	0.161;0.007|.|.	B;B|.|.	0.23852|.|.	0.049;0.01|.|.	T|T|.	0.71686|0.71686|.	-0.4518|-0.4518|.	10|5|.	0.33141|.|.	T|.|.	0.24|.|.	.|.|.	16.1634|16.1634|16.1634	0.81734|0.81734|0.81734	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	2422;2606|.|.	Q6ZNJ1-2;Q6ZNJ1|.|.	.;NBEL2_HUMAN|.|.	T|D|X	2422;855;2606;549|944|1893	ENSP00000292309:A2422T;ENSP00000373246:A855T;ENSP00000415034:A2606T|.|.	ENSP00000292309:A2422T|.|.	A|G|W	+|+|+	1|2|3	0|0|0	NBEAL2|NBEAL2|NBEAL2	47024873|47024873|47024873	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.988000|0.988000|0.988000	0.46212|0.46212|0.46212	0.695000|0.695000|0.695000	0.40330|0.40330|0.40330	4.551000|4.551000|4.551000	0.60740|0.60740|0.60740	2.669000|2.669000|2.669000	0.90835|0.90835|0.90835	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCA|GGC|TGG		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		A	47049869	G	A	47049869	3	1	630	1	0	0	0	0	1	0	0	0	10191	1203	42	2	8018	2	NBEAL2	3	47049869	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08		47049869	150972561	13	34284											
NICN1	84276	hgsc.bcm.edu	37	3	49463424	49463424	+	Silent	SNP	C	C	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:49463424C>G	ENST00000273598.3	-	3	401	c.315G>C	c.(313-315)ctG>ctC	p.L105L	NICN1-AS1_ENST00000424915.1_RNA|NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Intron	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	105						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCATGTCACACAGCATCTGAC	0.567																																																0													87	65	72					3																	49463424		2203	4300	6503	SO:0001819	synonymous_variant	84276			AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.315G>C	chr3.hg19:g.49463424C>G			Q8IZQ2	Silent	SNP	ENST00000273598.3	hg19	CCDS2798.1																																																																																				0.567	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		G	49463424	C	G	49463424	2	3	630	1	0	0	0	0	0	0	0	1	10415	465	17	4		4	NICN1	3	49463424	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	2413555	49463424	148559006	14	34285											
PCBP4	57060	hgsc.bcm.edu	37	3	51995031	51995031	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:51995031C>A	ENST00000461554.1	-	4	431	c.100G>T	c.(100-102)Ggg>Tgg	p.G34W	RP11-155D18.14_ENST00000489595.2_Missense_Mutation_p.G34W|PCBP4_ENST00000395013.3_5'UTR|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000428823.2_Missense_Mutation_p.G34W|PCBP4_ENST00000395014.2_5'Flank|PCBP4_ENST00000471622.1_Missense_Mutation_p.G34W|PCBP4_ENST00000355852.2_Missense_Mutation_p.G34W|PCBP4_ENST00000322099.7_Missense_Mutation_p.G34W|PCBP4_ENST00000484633.1_Missense_Mutation_p.G34W	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	34	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G34W(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTACCTTCCCGATGATGCTG	0.587																																																1	Substitution - Missense(1)	lung(1)											127	128	127					3																	51995031		2203	4300	6503	SO:0001583	missense	57060			AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"RNA binding protein MCG10", "LYST-interacting protein", "alphaCP-4 protein"	608503	"poly(rC)-binding protein 4"			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.100G>T	chr3.hg19:g.51995031C>A	ENSP00000417196:p.Gly34Trp		Q96AH7	Missense_Mutation	SNP	ENST00000461554.1	hg19	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803867	0.90623	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000428823;ENST00000471622;ENST00000294192;ENST00000468324;ENST00000466412;ENST00000497653;ENST00000489595;ENST00000490063;ENST00000483411;ENST00000461544	D;D;D;D;D;D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	4.92	4.92	0.64577	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.	.	.	.	D	0.97288	0.9113	H	0.99404	4.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99478	1.0947	9	0.87932	D	0	.	18.0881	0.89464	0.0:1.0:0.0:0.0	.	34;34;34;34	C9J0A4;P57723-2;E7EST1;P57723	.;.;.;PCBP4_HUMAN	W	34	ENSP00000348111:G34W;ENSP00000322341:G34W;ENSP00000417196:G34W;ENSP00000417100:G34W;ENSP00000395030:G34W;ENSP00000418925:G34W;ENSP00000419694:G34W;ENSP00000419557:G34W;ENSP00000417916:G34W;ENSP00000420008:G34W;ENSP00000418312:G34W;ENSP00000418997:G34W;ENSP00000419672:G34W	ENSP00000294192:G34W	G	-	1	0	PCBP4	51970071	1.000000	0.71417	0.989000	0.46669	0.807000	0.45602	5.997000	0.70646	2.431000	0.82371	0.561000	0.74099	GGG		0.587	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		A	51995031	C	A	51995031	3	1	630	1	0	0	0	0	1	0	0	0	11505	652	23	4	1155	4	PCBP4	3	51995031	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	2531607	51995031	146027399	15	34286											
POC1A	25886	hgsc.bcm.edu	37	3	52109979	52109979	+	Missense_Mutation	SNP	C	C	A	rs375422052		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:52109979C>A	ENST00000296484.2	-	11	1187	c.1148G>T	c.(1147-1149)cGg>cTg	p.R383L	POC1A_ENST00000474012.1_Missense_Mutation_p.R345L|POC1A_ENST00000394970.2_Missense_Mutation_p.R335L	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	383					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CAGTGTCAACCGCTGCTCCAG	0.547																																																0													136	119	124					3																	52109979		2203	4300	6503	SO:0001583	missense	25886			AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"WD repeat domain containing"	24488	protein-coding gene	gene with protein product		614783	"WD repeat domain 51A", "POC1 centriolar protein homolog A (Chlamydomonas)"	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.1148G>T	chr3.hg19:g.52109979C>A	ENSP00000296484:p.Arg383Leu		A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	ENST00000296484.2	hg19	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901179	0.92035	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.71461	-0.57;-0.57;-0.57	5.35	5.35	0.76521	.	0.063133	0.64402	D	0.000011	D	0.84593	0.5506	M	0.82323	2.585	0.43338	D	0.995389	D;D	0.89917	0.994;1.0	P;D	0.85130	0.879;0.997	D	0.85983	0.1484	10	0.66056	D	0.02	.	14.4269	0.67222	0.0:1.0:0.0:0.0	.	335;383	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	L	383;335;345	ENSP00000296484:R383L;ENSP00000378421:R335L;ENSP00000418968:R345L	ENSP00000296484:R383L	R	-	2	0	POC1A	52085019	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	5.066000	0.64351	2.786000	0.95864	0.655000	0.94253	CGG		0.547	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		A	52109979	C	A	52109979	3	1	630	1	0	0	0	0	1	0	0	0	12177	652	23	4	79	4	POC1A	3	52109979	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	114948	52109979	145912451	16	34287											
SFMBT1	51460	hgsc.bcm.edu	37	3	52988412	52988412	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:52988412A>G	ENST00000394752.3	-	3	426	c.44T>C	c.(43-45)aTg>aCg	p.M15T	SFMBT1_ENST00000470575.1_5'UTR|SFMBT1_ENST00000394750.1_Missense_Mutation_p.M15T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.M15T|SFMBT1_ENST00000296295.6_Missense_Mutation_p.M15T	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	15					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TACCTCTTCCATACCAGAGCC	0.333																																																0													111	116	114					3																	52988412		2203	4300	6503	SO:0001583	missense	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.44T>C	chr3.hg19:g.52988412A>G	ENSP00000378235:p.Met15Thr		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	hg19	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.536575	0.27475	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750;ENST00000482396;ENST00000483069;ENST00000497586	T;T;T;T;T;T	0.40756	2.62;2.62;2.62;2.62;2.03;1.02	5.7	5.7	0.88788	.	0.544403	0.20072	N	0.099858	T	0.31827	0.0809	N	0.24115	0.695	0.28463	N	0.915804	B	0.02656	0.0	B	0.17722	0.019	T	0.13335	-1.0513	10	0.24483	T	0.36	.	15.6127	0.76740	1.0:0.0:0.0:0.0	.	15	Q9UHJ3	SMBT1_HUMAN	T	15	ENSP00000378235:M15T;ENSP00000350789:M15T;ENSP00000296295:M15T;ENSP00000378233:M15T;ENSP00000418860:M15T;ENSP00000418950:M15T	ENSP00000296295:M15T	M	-	2	0	SFMBT1	52963452	1.000000	0.71417	0.990000	0.47175	0.489000	0.33432	5.542000	0.67218	2.164000	0.68074	0.477000	0.44152	ATG		0.333	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		G	52988412	A	G	52988412	3	3	630	1	0	0	0	0	1	0	0	0	14163	217	8	3	2632	3	SFMBT1	3	52988412	Missense_Mutation	SNP	A	TCGA-DZ-6133-01A-11D-1961-08	878433	52988412	145034018	17	34288											
FAM3D	131177	hgsc.bcm.edu	37	3	58625897	58625897	+	Silent	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:58625897C>A	ENST00000358781.2	-	7	640	c.330G>T	c.(328-330)acG>acT	p.T110T		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	110					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)	p.T110T(1)		large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GCACAGCTCCCGTGGTTCCTA	0.522																																																1	Substitution - coding silent(1)	lung(1)											227	192	204					3																	58625897		2203	4300	6503	SO:0001819	synonymous_variant	131177			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.330G>T	chr3.hg19:g.58625897C>A			Q547G2	Silent	SNP	ENST00000358781.2	hg19	CCDS2893.1																																																																																				0.522	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805		A	58625897	C	A	58625897	2	1	630	1	0	0	0	0	0	0	0	1	5561	639	23	4		4	FAM3D	3	58625897	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	5637485	58625897	139396533	18	34289											
ZBTB11	27107	hgsc.bcm.edu	37	3	101390027	101390027	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:101390027A>G	ENST00000312938.4	-	3	1305	c.725T>C	c.(724-726)cTt>cCt	p.L242P	ZBTB11_ENST00000461821.1_3'UTR	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	242	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCAATAAAAAGATCTCGAAA	0.363																																																0													73	73	73					3																	101390027		2203	4300	6503	SO:0001583	missense	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.725T>C	chr3.hg19:g.101390027A>G	ENSP00000326200:p.Leu242Pro		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	hg19	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495399	0.85069	.	.	ENSG00000066422	ENST00000312938	T	0.73681	-0.77	5.48	5.48	0.80851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88948	0.6576	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91470	0.5196	10	0.87932	D	0	-12.2938	15.5729	0.76354	1.0:0.0:0.0:0.0	.	242	O95625	ZBT11_HUMAN	P	242	ENSP00000326200:L242P	ENSP00000326200:L242P	L	-	2	0	ZBTB11	102872717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.092000	0.63282	0.533000	0.62120	CTT		0.363	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		G	101390027	A	G	101390027	3	3	630	1	0	0	0	0	1	0	0	0	17529	72	3	3	2472	3	ZBTB11	3	101390027	Missense_Mutation	SNP	A	TCGA-DZ-6133-01A-11D-1961-08	42764130	101390027	96632403	19	34290											
ALDH1L1	10840	hgsc.bcm.edu	37	3	125850317	125850317	+	Silent	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:125850317C>A	ENST00000393434.2	-	13	1882	c.1533G>T	c.(1531-1533)gcG>gcT	p.A511A	ALDH1L1_ENST00000452905.2_Silent_p.A410A|ALDH1L1_ENST00000273450.3_Silent_p.A521A|ALDH1L1_ENST00000472186.1_Silent_p.A511A|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	511	Aldehyde dehydrogenase.		A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.A511A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AGACGGCACCCGCATCCAGGG	0.637																																																1	Substitution - coding silent(1)	large_intestine(1)											90	79	83					3																	125850317		2203	4300	6503	SO:0001819	synonymous_variant	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1533G>T	chr3.hg19:g.125850317C>A			B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	hg19	CCDS3034.1																																																																																				0.637	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		A	125850317	C	A	125850317	2	1	630	1	0	0	0	0	0	0	0	1	494	639	23	4		4	ALDH1L1	3	125850317	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	24460290	125850317	72172113	20	34291											
SLCO2A1	6578	hgsc.bcm.edu	37	3	133692538	133692538	+	Silent	SNP	G	G	C	rs150677069		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:133692538G>C	ENST00000310926.4	-	3	639	c.366C>G	c.(364-366)tcC>tcG	p.S122S	SLCO2A1_ENST00000493729.1_Silent_p.S122S|SLCO2A1_ENST00000478651.1_5'UTR	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	122					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GGTAGGGCTCGGAGAGGAAGT	0.582																																																0													87	73	78					3																	133692538		2203	4300	6503	SO:0001819	synonymous_variant	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.366C>G	chr3.hg19:g.133692538G>C			Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	hg19	CCDS3084.1																																																																																				0.582	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		C	133692538	G	C	133692538	2	2	630	1	0	0	0	0	0	0	0	1	14732	1103	39	4		4	SLCO2A1	3	133692538	Silent	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	7842221	133692538	64329892	21	34292											
PSMD2	5708	hgsc.bcm.edu	37	3	184026587	184026587	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:184026587G>T	ENST00000310118.4	+	21	3194	c.2636G>T	c.(2635-2637)cGg>cTg	p.R879L	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.R749L|PSMD2_ENST00000435761.1_Missense_Mutation_p.R720L	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	879					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 protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CACGGGGAACGGGCAGAATTG	0.537											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(24;313 636 6917 9932 15554)											0													110	113	112					3																	184026587		2203	4300	6503	SO:0001583	missense	5708			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2636G>T	chr3.hg19:g.184026587G>T	ENSP00000310129:p.Arg879Leu	1989	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	hg19	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493660	0.84962	.	.	ENSG00000175166	ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.49720	0.77;0.77;0.77	5.72	4.85	0.62838	.	0.119862	0.56097	D	0.000039	T	0.74566	0.3733	M	0.89658	3.05	0.51482	D	0.999922	D;D	0.76494	0.999;0.987	D;D	0.77557	0.99;0.953	T	0.81300	-0.0995	10	0.66056	D	0.02	-8.4473	16.6435	0.85138	0.0:0.1301:0.8699:0.0	.	720;879	E9PCS3;Q13200	.;PSMD2_HUMAN	L	879;551;871;720;749	ENSP00000310129:R879L;ENSP00000402618:R720L;ENSP00000416028:R749L	ENSP00000310129:R879L	R	+	2	0	PSMD2	185509281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.380000	0.97202	1.429000	0.47314	-0.122000	0.15005	CGG		0.537	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		T	184026587	G	T	184026587	3	4	630	1	0	0	0	0	1	0	0	0	12703	1116	39	4	2718	4	PSMD2	3	184026587	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	50334049	184026587	13995843	22	34293											
ATP13A3	79572	hgsc.bcm.edu	37	3	194146121	194146121	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:194146121G>A	ENST00000439040.1	-	30	4054	c.3263C>T	c.(3262-3264)gCa>gTa	p.A1088V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.A1088V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1088						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAGGCAATTGCCACTATGAG	0.353																																																0													97	90	93					3																	194146121		1821	4076	5897	SO:0001583	missense	79572			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3263C>T	chr3.hg19:g.194146121G>A	ENSP00000416508:p.Ala1088Val		Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	hg19	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207024	0.95033	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	T;T	0.74947	-0.89;-0.89	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.82630	2.6	0.80722	D	1	D	0.65815	0.995	D	0.66847	0.947	D	0.87360	0.2343	10	0.49607	T	0.09	-22.6896	19.4395	0.94813	0.0:0.0:1.0:0.0	.	1088	Q9H7F0	AT133_HUMAN	V	1088	ENSP00000416508:A1088V;ENSP00000256031:A1088V	ENSP00000256031:A1088V	A	-	2	0	ATP13A3	195627410	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.476000	0.97823	2.591000	0.87537	0.591000	0.81541	GCA		0.353	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		A	194146121	G	A	194146121	3	1	630	1	0	0	0	0	1	0	0	0	1125	1319	46	2	433	2	ATP13A3	3	194146121	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	10119534	194146121	3876309	23	34294											
ZBTB49	166793	hgsc.bcm.edu	37	4	4322599	4322599	+	Silent	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:4322599C>A	ENST00000337872.4	+	8	1975	c.1854C>A	c.(1852-1854)tcC>tcA	p.S618S	ZBTB49_ENST00000355834.3_Silent_p.S496S|RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000538529.1_Silent_p.S101S	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	618					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTCTTTCTCCCAAGACACGT	0.547																																																0													54	51	52					4																	4322599		2203	4300	6503	SO:0001819	synonymous_variant	166793			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1854C>A	chr4.hg19:g.4322599C>A			Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	hg19	CCDS3375.1																																																																																				0.547	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		A	4322599	C	A	4322599	2	1	630	1	0	0	0	0	0	0	0	1	17555	610	22	4		4	ZBTB49	4	4322599	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08		4322599	186831677	24	34295											
CCKAR	886	hgsc.bcm.edu	37	4	26483517	26483517	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:26483517C>T	ENST00000295589.3	-	5	1224	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	344					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGCGGCGCTCTGCGGAGGCG	0.592																																																0													103	95	98					4																	26483517		2203	4300	6503	SO:0001583	missense	886			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1030G>A	chr4.hg19:g.26483517C>T	ENSP00000295589:p.Glu344Lys		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	hg19	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	6.038	0.375400	0.11409	.	.	ENSG00000163394	ENST00000295589	T	0.72051	-0.62	5.29	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.163417	0.52532	D	0.000076	T	0.49029	0.1533	N	0.11698	0.16	0.28765	N	0.900671	B	0.14012	0.009	B	0.17098	0.017	T	0.37731	-0.9693	10	0.23302	T	0.38	.	9.6172	0.39698	0.0:0.6564:0.2699:0.0737	.	344	P32238	CCKAR_HUMAN	K	344	ENSP00000295589:E344K	ENSP00000295589:E344K	E	-	1	0	CCKAR	26092615	0.886000	0.30341	0.983000	0.44433	0.058000	0.15608	1.765000	0.38481	1.205000	0.43262	0.563000	0.77884	GAG		0.592	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			T	26483517	C	T	26483517	3	4	630	1	0	0	0	0	1	0	0	0	2882	922	32	2	260	2	CCKAR	4	26483517	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	22160918	26483517	164670759	25	34296											
ANXA3	306	hgsc.bcm.edu	37	4	79516549	79516549	+	Silent	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:79516549A>G	ENST00000264908.6	+	8	877	c.498A>G	c.(496-498)gaA>gaG	p.E166E	ANXA3_ENST00000503570.2_Silent_p.E127E|ANXA3_ENST00000512884.1_Silent_p.E127E	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	166					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GAAGAGATGAAAGTCTGAAAG	0.443																																					GBM(2;126 157 27790 28920 42492)											0													184	186	186					4																	79516549		2203	4300	6503	SO:0001819	synonymous_variant	306			M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.498A>G	chr4.hg19:g.79516549A>G			B2R9W6|Q6LET2	Silent	SNP	ENST00000264908.6	hg19	CCDS3584.1																																																																																				0.443	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		G	79516549	A	G	79516549	2	3	630	1	0	0	0	0	0	0	0	1	719	11	1	3		3	ANXA3	4	79516549	Silent	SNP	A	TCGA-DZ-6133-01A-11D-1961-08	53033032	79516549	111637727	26	34297											
PLRG1	5356	hgsc.bcm.edu	37	4	155470082	155470082	+	Silent	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:155470082T>C	ENST00000499023.2	-	2	141	c.15A>G	c.(13-15)gtA>gtG	p.V5V	PLRG1_ENST00000393905.2_Silent_p.V5V|PLRG1_ENST00000302078.5_Silent_p.V5V	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	5					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AATGTTTCTGTACCTCCTAAA	0.353																																																0													76	71	73					4																	155470082		2203	4300	6503	SO:0001819	synonymous_variant	5356			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.15A>G	chr4.hg19:g.155470082T>C			B3KMK4|Q3KQY5|Q8WUD8	Silent	SNP	ENST00000499023.2	hg19	CCDS34083.1																																																																																				0.353	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		C	155470082	T	C	155470082	2	2	630	1	0	0	0	0	0	0	0	1	12108	1625	57	3		3	PLRG1	4	155470082	Silent	SNP	T	TCGA-DZ-6133-01A-11D-1961-08	75953533	155470082	35684194	27	34298											
PCSK1	5122	hgsc.bcm.edu	37	5	95728748	95728748	+	Missense_Mutation	SNP	C	C	T	rs140941383		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:95728748C>T	ENST00000311106.3	-	14	2456	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.R693Q	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	740					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTGAAGCAGCCGGTCGTCTCT	0.398																																																0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	163	170	168		2219,2078,1289	5.1	1	5	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PCSK1	NM_000439.4,NM_001177875.1,NM_001177876.1	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	740/754,693/707,430/444	95728748	1,13005	2203	4300	6503	SO:0001583	missense	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2219G>A	chr5.hg19:g.95728748C>T	ENSP00000308024:p.Arg740Gln		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	hg19	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313465	0.95655	0.0	1.16E-4	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.71341	-0.41;-0.56	6.03	5.11	0.69529	Prohormone convertase enzyme (1);	0.058685	0.64402	D	0.000001	T	0.74222	0.3688	L	0.34521	1.04	0.49130	D	0.999758	D;D	0.71674	0.997;0.998	P;P	0.59825	0.864;0.834	T	0.76364	-0.2986	10	0.72032	D	0.01	-22.6652	15.7754	0.78209	0.1369:0.8631:0.0:0.0	.	693;740	E9PHA1;P29120	.;NEC1_HUMAN	Q	740;693	ENSP00000308024:R740Q;ENSP00000421600:R693Q	ENSP00000308024:R740Q	R	-	2	0	PCSK1	95754504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.354000	0.59417	2.861000	0.98227	0.655000	0.94253	CGG		0.398	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		T	95728748	C	T	95728748	3	4	630	1	0	0	0	0	1	0	0	0	11602	652	23	1	46	1	PCSK1	5	95728748	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08		95728748	85186512	28	34299											
CHD1	1105	hgsc.bcm.edu	37	5	98236974	98236974	+	Missense_Mutation	SNP	T	T	C	rs370850474		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:98236974T>C	ENST00000284049.3	-	5	652	c.503A>G	c.(502-504)gAa>gGa	p.E168G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	168					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTCTCTCTCTTCTTCAGATTC	0.358																																																0								T	GLY/GLU	0,4406		0,0,2203	137	133	134		503	5.6	1	5		134	4,8596	3.7+/-12.6	0,4,4296	no	missense	CHD1	NM_001270.2	98	0,4,6499	CC,CT,TT		0.0465,0.0,0.0308	benign	168/1711	98236974	4,13002	2203	4300	6503	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.503A>G	chr5.hg19:g.98236974T>C	ENSP00000284049:p.Glu168Gly		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	hg19	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.388330	0.42308	0.0	4.65E-4	ENSG00000153922	ENST00000284049;ENST00000540681	D	0.90385	-2.66	5.62	5.62	0.85841	.	0.000000	0.34507	U	0.003918	D	0.82986	0.5156	N	0.14661	0.345	0.51012	D	0.999905	B	0.16603	0.018	B	0.16722	0.016	T	0.78352	-0.2237	10	0.34782	T	0.22	.	14.6925	0.69096	0.0:0.0:0.0:1.0	.	168	O14646	CHD1_HUMAN	G	168	ENSP00000284049:E168G	ENSP00000284049:E168G	E	-	2	0	CHD1	98264874	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.936000	0.48971	2.254000	0.74563	0.528000	0.53228	GAA		0.358	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		C	98236974	T	C	98236974	3	2	630	1	0	0	0	0	1	0	0	0	3325	1783	62	3	4753	3	CHD1	5	98236974	Missense_Mutation	SNP	T	TCGA-DZ-6133-01A-11D-1961-08	2508226	98236974	82678286	29	34300											
GTF2H4	2968	hgsc.bcm.edu	37	6	30877829	30877829	+	Silent	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:30877829C>T	ENST00000259895.4	+	4	586	c.363C>T	c.(361-363)gcC>gcT	p.A121A	GTF2H4_ENST00000376316.2_Silent_p.A121A|GTF2H4_ENST00000539324.1_Silent_p.A65A|RN7SL175P_ENST00000580375.1_RNA	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	121					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCCGCATTGCCCTTCTGGGTG	0.582								Nucleotide excision repair (NER)																																								0													114	130	124					6																	30877829		1510	2708	4218	SO:0001819	synonymous_variant	2968			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"General transcription factors", "General transcription factor IIH complex subunits"	4658	protein-coding gene	gene with protein product		601760	"general transcription factor IIH, polypeptide 4 (52kD subunit)"			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.363C>T	chr6.hg19:g.30877829C>T			B4DTJ5|Q76KU4	Silent	SNP	ENST00000259895.4	hg19	CCDS34386.1																																																																																				0.582	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		T	30877829	C	T	30877829	2	4	630	1	0	0	0	0	0	0	0	1	6867	610	22	2		2	GTF2H4	6	30877829	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08		30877829	140237238	30	34301											
HLA-DQA2	3118	hgsc.bcm.edu	37	6	32714066	32714066	+	Silent	SNP	C	C	T	rs572758897		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:32714066C>T	ENST00000374940.3	+	4	765	c.663C>T	c.(661-663)tgC>tgT	p.C221C		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	221					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	CTTTGGTCTGCGCCCTGGGGT	0.552													.|||	1	0.000199681	0.0	0.0	5008	,	,		21667	0.0		0.0	False		,,,				2504	0.001															0													163	160	161					6																	32714066		1511	2709	4220	SO:0001819	synonymous_variant	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.663C>T	chr6.hg19:g.32714066C>T			A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	hg19	CCDS4753.1																																																																																				0.552	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		T	32714066	C	T	32714066	2	4	630	1	0	0	0	0	0	0	0	1	7207	776	27	1		1	HLA-DQA2	6	32714066	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	1836237	32714066	138401001	31	34302											
SYNE1	23345	hgsc.bcm.edu	37	6	152671451	152671451	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:152671451T>C	ENST00000367255.5	-	72	12354	c.11753A>G	c.(11752-11754)gAg>gGg	p.E3918G	SYNE1_ENST00000265368.4_Missense_Mutation_p.E3918G|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3842G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3918					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTTTCGCCTCCAGACTGAA	0.473										HNSCC(10;0.0054)																																						0													102	93	96					6																	152671451		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11753A>G	chr6.hg19:g.152671451T>C	ENSP00000356224:p.Glu3918Gly		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671137	0.47781	.	.	ENSG00000131018	ENST00000367255;ENST00000265368;ENST00000341594	T;T;T	0.41400	1.0;1.0;1.0	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000009	T	0.51041	0.1651	L	0.55481	1.735	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.992	D;D;D	0.64687	0.928;0.928;0.928	T	0.54879	-0.8227	10	0.72032	D	0.01	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	3918;3918;3918	B7ZBC3;Q8NF91;E7EQI5	.;SYNE1_HUMAN;.	G	3918;3918;3842	ENSP00000356224:E3918G;ENSP00000265368:E3918G;ENSP00000341887:E3842G	ENSP00000265368:E3918G	E	-	2	0	SYNE1	152713144	0.857000	0.29778	0.800000	0.32199	0.939000	0.58152	2.153000	0.42282	2.281000	0.76405	0.533000	0.62120	GAG		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152671451	T	C	152671451	3	2	630	1	0	0	0	0	1	0	0	0	15450	1551	54	3	15013	3	SYNE1	6	152671451	Missense_Mutation	SNP	T	TCGA-DZ-6133-01A-11D-1961-08	119957385	152671451	18443616	32	34303											
ARID1B	57492	hgsc.bcm.edu	37	6	157527600	157527600	+	Silent	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:157527600G>A	ENST00000350026.5	+	19	5287	c.5286G>A	c.(5284-5286)aaG>aaA	p.K1762K	ARID1B_ENST00000275248.4_Silent_p.K1757K|ARID1B_ENST00000367148.1_Silent_p.K1815K|ARID1B_ENST00000346085.5_Silent_p.K1775K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1762					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGACCCAAAGGAGAAGCCCA	0.517																																																0													60	61	61					6																	157527600		2203	4296	6499	SO:0001819	synonymous_variant	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5286G>A	chr6.hg19:g.157527600G>A			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	hg19	CCDS5251.2																																																																																				0.517	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		A	157527600	G	A	157527600	2	1	630	1	0	0	0	0	0	0	0	1	914	991	35	2		2	ARID1B	6	157527600	Silent	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	4856149	157527600	13587467	33	34304											
CDK13	8621	hgsc.bcm.edu	37	7	40117701	40117701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr7:40117701delT	ENST00000181839.4	+	10	3483	c.2878delT	c.(2878-2880)ttafs	p.L960fs	CDK13_ENST00000340829.5_Frame_Shift_Del_p.L960fs	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	960	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCGTCGAAAGTTAAGAGAAGA	0.348																																																0													152	143	146					7																	40117701		2203	4300	6503	SO:0001589	frameshift_variant	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2878delT	chr7.hg19:g.40117701delT	ENSP00000181839:p.Leu960fs		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Frame_Shift_Del	DEL	ENST00000181839.4	hg19	CCDS5461.1																																																																																				0.348	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		-	40117701	T	-	40117701	7	5	630	1	0	1	0	1	0	0	0	0	3131	1722	60	0	2916	0	CDK13	7	40117701	Frame_Shift_Del	DEL	T	TCGA-DZ-6133-01A-11D-1961-08		40117701	119020962	34	34305											
ABCB1	5243	hgsc.bcm.edu	37	7	87179321	87179321	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr7:87179321C>A	ENST00000265724.3	-	14	1817	c.1400G>T	c.(1399-1401)cGg>cTg	p.R467L	ABCB1_ENST00000543898.1_Missense_Mutation_p.R403L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	467	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R467L(2)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AATGATTTCCCGTAGAAACCT	0.403																																																2	Substitution - Missense(2)	lung(2)											147	134	139					7																	87179321		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1400G>T	chr7.hg19:g.87179321C>A	ENSP00000265724:p.Arg467Leu		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	hg19	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256424	0.95336	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.94793	-3.52;-3.52	6.16	6.16	0.99307	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97717	0.9251	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97561	1.0098	10	0.87932	D	0	-21.7962	20.8598	0.99761	0.0:1.0:0.0:0.0	.	403;467	B5AK60;P08183	.;MDR1_HUMAN	L	248;467;403	ENSP00000265724:R467L;ENSP00000444095:R403L	ENSP00000265724:R467L	R	-	2	0	ABCB1	87017257	0.984000	0.35163	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGG		0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		A	87179321	C	A	87179321	3	1	630	1	0	0	0	0	1	0	0	0	40	652	23	4	2506	4	ABCB1	7	87179321	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	47061620	87179321	71959342	35	34306											
ANGPT2	285	hgsc.bcm.edu	37	8	6360731	6360731	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:6360731G>T	ENST00000325203.5	-	9	1856	c.1382C>A	c.(1381-1383)cCa>cAa	p.P461Q	ANGPT2_ENST00000415216.1_Missense_Mutation_p.P460Q|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.P409Q			O15123	ANGP2_HUMAN	angiopoietin 2	461	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CTGCCTCTGTGGATAGTACAT	0.463																																																0													235	190	205					8																	6360731		2203	4300	6503	SO:0001583	missense	285			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"Fibrinogen C domain containing"	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.1382C>A	chr8.hg19:g.6360731G>T	ENSP00000314897:p.Pro461Gln		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	ENST00000325203.5	hg19	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422644	0.43020	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312	T;T;T	0.75050	-0.9;-0.9;-0.9	6.17	6.17	0.99709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.112483	0.64402	D	0.000006	T	0.57621	0.2066	N	0.10685	0.025	0.42845	D	0.994062	B;B;B	0.27229	0.069;0.069;0.172	B;B;B	0.25506	0.015;0.015;0.061	T	0.54761	-0.8245	10	0.22109	T	0.4	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	409;460;461	O15123-2;O15123-3;O15123	.;.;ANGP2_HUMAN	Q	461;460;409	ENSP00000314897:P461Q;ENSP00000400782:P460Q;ENSP00000343517:P409Q	ENSP00000314897:P461Q	P	-	2	0	ANGPT2	6348139	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.047000	0.57383	2.941000	0.99782	0.655000	0.94253	CCA		0.463	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		T	6360731	G	T	6360731	3	4	630	1	0	0	0	0	1	0	0	0	611	1348	47	4	112	4	ANGPT2	8	6360731	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08		6360731	140003291	36	34307											
BIN3	55909	hgsc.bcm.edu	37	8	22488017	22488017	+	Silent	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:22488017G>A	ENST00000276416.6	-	5	303	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	BIN3_ENST00000399977.4_Silent_p.L31L|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Silent_p.L25L|BIN3_ENST00000520292.1_Silent_p.L79L	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	79	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACCATGTTCAGAAGGTCCTGG	0.532																																																0													176	176	176					8																	22488017		2001	4169	6170	SO:0001819	synonymous_variant	55909				CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.235C>T	chr8.hg19:g.22488017G>A			Q9BVG2|Q9NVY9	Silent	SNP	ENST00000276416.6	hg19	CCDS47825.1																																																																																				0.532	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			A	22488017	G	A	22488017	2	1	630	1	0	0	0	0	0	0	0	1	1434	933	33	2		2	BIN3	8	22488017	Silent	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	16127286	22488017	123876005	37	34308											
RAB11FIP1	80223	hgsc.bcm.edu	37	8	37732715	37732715	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:37732715G>T	ENST00000330843.4	-	3	952	c.940C>A	c.(940-942)Cgc>Agc	p.R314S	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.R314S|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.R166S|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.R166S|RAB11FIP1_ENST00000523182.1_5'Flank	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	314					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.R314C(1)|p.R314S(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ACATTAGAGCGGGAAAGGACA	0.507																																																2	Substitution - Missense(2)	lung(1)|central_nervous_system(1)											260	251	254					8																	37732715		2203	4300	6503	SO:0001583	missense	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.940C>A	chr8.hg19:g.37732715G>T	ENSP00000331342:p.Arg314Ser		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	hg19	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422554	0.62622	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.24	5.24	0.73138	.	0.222920	0.31922	N	0.006857	T	0.55800	0.1943	M	0.78049	2.395	0.33156	D	0.546361	D;D;D;D	0.89917	0.983;0.991;1.0;0.994	P;P;D;P	0.87578	0.799;0.873;0.998;0.84	T	0.69716	-0.5070	10	0.72032	D	0.01	-11.1297	12.9824	0.58572	0.0:0.0:0.728:0.272	.	166;166;314;314	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	S	314;314;166;166	ENSP00000287263:R314S;ENSP00000331342:R314S;ENSP00000430009:R166S;ENSP00000430680:R166S	ENSP00000287263:R314S	R	-	1	0	RAB11FIP1	37851873	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	2.192000	0.42649	2.445000	0.82738	0.655000	0.94253	CGC		0.507	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		T	37732715	G	T	37732715	3	4	630	1	0	0	0	0	1	0	0	0	12899	1116	39	4	2927	4	RAB11FIP1	8	37732715	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	15244698	37732715	108631307	38	34309											
PTPRD	5789	hgsc.bcm.edu	37	9	8471073	8471073	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:8471073T>C	ENST00000381196.4	-	28	3969	c.3426A>G	c.(3424-3426)atA>atG	p.I1142M	PTPRD_ENST00000360074.4_Missense_Mutation_p.I1129M|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1120M|PTPRD_ENST00000355233.5_Missense_Mutation_p.I731M|PTPRD_ENST00000486161.1_Missense_Mutation_p.I731M|PTPRD_ENST00000397617.3_Missense_Mutation_p.I721M|PTPRD_ENST00000540109.1_Missense_Mutation_p.I1142M|PTPRD_ENST00000356435.5_Missense_Mutation_p.I1142M|PTPRD_ENST00000397606.3_Missense_Mutation_p.I721M|PTPRD_ENST00000397611.3_Missense_Mutation_p.I728M|PTPRD_ENST00000537002.1_Missense_Mutation_p.I728M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1142					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCACAATTATTATGTAGTAAC	0.393										TSP Lung(15;0.13)																																						0													115	113	114					9																	8471073		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3426A>G	chr9.hg19:g.8471073T>C	ENSP00000370593:p.Ile1142Met		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	hg19	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717523	0.68844	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17	5.72	4.56	0.56223	.	0.093861	0.64402	D	0.000001	T	0.70919	0.3279	M	0.69358	2.11	0.48762	D	0.999701	P;P;B;P;D;D;B;P;B	0.59357	0.835;0.868;0.435;0.855;0.985;0.973;0.035;0.736;0.097	P;P;B;B;D;P;B;B;B	0.77557	0.707;0.501;0.221;0.359;0.99;0.807;0.026;0.372;0.016	T	0.69924	-0.5013	9	.	.	.	.	9.7155	0.40272	0.286:0.0:0.0:0.714	.	721;726;731;731;728;728;1129;1142;1142	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	M	1142;1142;1129;1120;731;721;728;728;613;1142;731;721	ENSP00000370593:I1142M;ENSP00000348812:I1142M;ENSP00000353187:I1129M;ENSP00000351293:I1120M;ENSP00000347373:I731M;ENSP00000380741:I721M;ENSP00000380735:I728M;ENSP00000440515:I728M;ENSP00000438164:I1142M;ENSP00000417093:I731M;ENSP00000380731:I721M	.	I	-	3	3	PTPRD	8461073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.376000	0.44292	0.960000	0.38005	0.533000	0.62120	ATA		0.393	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			C	8471073	T	C	8471073	3	2	630	1	0	0	0	0	1	0	0	0	12805	1744	61	3	2441	3	PTPRD	9	8471073	Missense_Mutation	SNP	T	TCGA-DZ-6133-01A-11D-1961-08		8471073	132742358	39	34310											
TOPORS	10210	hgsc.bcm.edu	37	9	32541815	32541815	+	Missense_Mutation	SNP	C	C	G	rs371709773		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:32541815C>G	ENST00000360538.2	-	3	2824	c.2708G>C	c.(2707-2709)cGt>cCt	p.R903P	TOPORS_ENST00000379858.1_Missense_Mutation_p.R838P	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	903	Interaction with UBE2I.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AACTGGGGAACGTGAAGCATT	0.368																																																0													195	186	189					9																	32541815		2203	4300	6503	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2708G>C	chr9.hg19:g.32541815C>G	ENSP00000353735:p.Arg903Pro		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	hg19	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457297	0.26161	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15017	2.46;2.47	5.81	0.86	0.19042	.	0.565792	0.16222	N	0.224014	T	0.07999	0.0200	N	0.14661	0.345	0.18873	N	0.999987	B	0.31730	0.337	B	0.26614	0.071	T	0.24621	-1.0155	10	0.52906	T	0.07	-1.0409	5.7492	0.18138	0.0:0.4435:0.1994:0.3571	.	903	Q9NS56	TOPRS_HUMAN	P	903;838	ENSP00000353735:R903P;ENSP00000369187:R838P	ENSP00000353735:R903P	R	-	2	0	TOPORS	32531815	0.000000	0.05858	0.985000	0.45067	0.702000	0.40608	-0.615000	0.05597	0.113000	0.18004	-0.133000	0.14855	CGT		0.368	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		G	32541815	C	G	32541815	3	3	630	1	0	0	0	0	1	0	0	0	16375	536	19	4	433	4	TOPORS	9	32541815	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	24070742	32541815	108671616	40	34311											
VCP	7415	hgsc.bcm.edu	37	9	35061057	35061057	+	Silent	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:35061057A>G	ENST00000358901.6	-	11	2209	c.1314T>C	c.(1312-1314)gaT>gaC	p.D438D		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	438					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGACCTCGGCATCAATGGTCT	0.537																																																0													229	212	218					9																	35061057		2203	4300	6503	SO:0001819	synonymous_variant	7415			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1314T>C	chr9.hg19:g.35061057A>G			B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	hg19	CCDS6573.1																																																																																				0.537	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		G	35061057	A	G	35061057	2	3	630	1	0	0	0	0	0	0	0	1	17145	214	8	3		3	VCP	9	35061057	Silent	SNP	A	TCGA-DZ-6133-01A-11D-1961-08	2519242	35061057	106152374	41	34312											
TMEM2	23670	hgsc.bcm.edu	37	9	74313090	74313090	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:74313090G>T	ENST00000377044.4	-	20	3947	c.3408C>A	c.(3406-3408)agC>agA	p.S1136R	TMEM2_ENST00000377066.5_Missense_Mutation_p.S1073R|TMEM2_ENST00000396272.3_Missense_Mutation_p.S129R	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1136					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CATGCCTGTGGCTTTTGGCTT	0.413																																																0													155	125	135					9																	74313090		2203	4300	6503	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3408C>A	chr9.hg19:g.74313090G>T	ENSP00000366243:p.Ser1136Arg		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	hg19	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118919	0.37436	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.42900	0.96;0.96;0.96	5.8	3.79	0.43588	.	0.343603	0.37053	N	0.002263	T	0.24160	0.0585	N	0.14661	0.345	0.27366	N	0.95581	B;B	0.12630	0.004;0.006	B;B	0.16722	0.007;0.016	T	0.17077	-1.0381	10	0.16420	T	0.52	.	10.9787	0.47482	0.2588:0.0:0.7412:0.0	.	1136;1073	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	R	1136;1073;129	ENSP00000366243:S1136R;ENSP00000366266:S1073R;ENSP00000379569:S129R	ENSP00000366243:S1136R	S	-	3	2	TMEM2	73502910	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	0.723000	0.25939	0.658000	0.30925	0.563000	0.77884	AGC		0.413	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		T	74313090	G	T	74313090	3	4	630	1	0	0	0	0	1	0	0	0	16126	1194	42	4	763	4	TMEM2	9	74313090	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	39252033	74313090	66900341	42	34313											
FLJ46321	389763	hgsc.bcm.edu	37	9	84609482	84609482	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:84609482T>C	ENST00000344803.2	+	4	4144	c.4097T>C	c.(4096-4098)aTa>aCa	p.I1366T		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1366					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAACCCAGCATATCATATGAA	0.433																																																0													28	25	26					9																	84609482		1844	4078	5922	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4097T>C	chr9.hg19:g.84609482T>C	ENSP00000341988:p.Ile1366Thr			Missense_Mutation	SNP	ENST00000344803.2	hg19	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	1.389	-0.581436	0.03854	.	.	ENSG00000214929	ENST00000344803	T	0.04706	3.57	3.23	-6.46	0.01908	.	.	.	.	.	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	1	B	0.20988	0.05	B	0.17722	0.019	T	0.45145	-0.9281	9	0.09084	T	0.74	5.4727	0.8658	0.01203	0.3696:0.2351:0.248:0.1473	.	1366	Q6ZQQ2	F75D1_HUMAN	T	1366	ENSP00000341988:I1366T	ENSP00000341988:I1366T	I	+	2	0	FAM75D1	83799302	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.596000	0.02091	-2.589000	0.00457	-0.313000	0.08912	ATA		0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		C	84609482	T	C	84609482	3	2	630	1	0	0	0	0	1	0	0	0	5934	1406	49	3	4111	3	FLJ46321	9	84609482	Missense_Mutation	SNP	T	TCGA-DZ-6133-01A-11D-1961-08	10296392	84609482	56603949	43	34314											
PAPPA	5069	hgsc.bcm.edu	37	9	118949550	118949550	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:118949550G>T	ENST00000328252.3	+	2	902	c.533G>T	c.(532-534)cGa>cTa	p.R178L	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	178					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAGACAGACCGAGCCCGGCAA	0.532																																																0													84	79	81					9																	118949550		2203	4300	6503	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.533G>T	chr9.hg19:g.118949550G>T	ENSP00000330658:p.Arg178Leu		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	hg19	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948966	0.92660	.	.	ENSG00000182752	ENST00000328252	T	0.73681	-0.77	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88974	0.3403	10	0.87932	D	0	-25.065	20.6439	0.99570	0.0:0.0:1.0:0.0	.	178	Q13219	PAPP1_HUMAN	L	178	ENSP00000330658:R178L	ENSP00000330658:R178L	R	+	2	0	PAPPA	117989371	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.827000	0.99397	2.884000	0.98904	0.655000	0.94253	CGA		0.532	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		T	118949550	G	T	118949550	3	4	630	1	0	0	0	0	1	0	0	0	11434	1058	37	4	539	4	PAPPA	9	118949550	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	34340068	118949550	22263881	44	34315											
SPTAN1	6709	hgsc.bcm.edu	37	9	131370474	131370474	+	Silent	SNP	C	C	A	rs2228951	byFrequency	TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:131370474C>A	ENST00000372731.4	+	34	4520	c.4410C>A	c.(4408-4410)acC>acA	p.T1470T	SPTAN1_ENST00000358161.5_Silent_p.T1470T|SPTAN1_ENST00000372739.3_Silent_p.T1470T	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1470					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.T1470T(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCTTGAATACCGAAGACAAAG	0.517																																					NSCLC(120;833 1744 2558 35612 37579)											1	Substitution - coding silent(1)	lung(1)											162	166	165					9																	131370474		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4410C>A	chr9.hg19:g.131370474C>A			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	hg19	CCDS6905.1																																																																																				0.517	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		A	131370474	C	A	131370474	2	1	630	1	0	0	0	0	0	0	0	1	15122	639	23	4		4	SPTAN1	9	131370474	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	12420924	131370474	9842957	45	34316											
CPEB3	22849	hgsc.bcm.edu	37	10	93812079	93812079	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr10:93812079A>G	ENST00000265997.4	-	10	2159	c.1987T>C	c.(1987-1989)Tgt>Cgt	p.C663R	CPEB3_ENST00000412050.4_Missense_Mutation_p.C649R	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	663					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CAGTATTCACAGTAATACTGC	0.592																																																0													101	86	91					10																	93812079		2203	4300	6503	SO:0001583	missense	22849			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1987T>C	chr10.hg19:g.93812079A>G	ENSP00000265997:p.Cys663Arg		Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	hg19	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.195744	0.58126	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.25414	1.8;1.8	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.997	D;D;D	0.91635	0.999;0.986;0.994	T	0.67469	-0.5663	10	0.87932	D	0	-10.7449	15.5925	0.76543	1.0:0.0:0.0:0.0	.	663;649;649	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	R	649;649;663	ENSP00000398310:C649R;ENSP00000265997:C663R	ENSP00000265997:C663R	C	-	1	0	CPEB3	93802059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.094000	0.63399	0.482000	0.46254	TGT		0.592	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		G	93812079	A	G	93812079	3	3	630	1	0	0	0	0	1	0	0	0	3804	188	7	3	113	3	CPEB3	10	93812079	Missense_Mutation	SNP	A	TCGA-DZ-6133-01A-11D-1961-08		93812079	41722668	46	34317											
RRP12	23223	hgsc.bcm.edu	37	10	99120314	99120314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr10:99120314delG	ENST00000370992.4	-	31	3740	c.3629delC	c.(3628-3630)cctfs	p.P1210fs	RRP12_ENST00000315563.6_Frame_Shift_Del_p.P1110fs|RRP12_ENST00000536831.1_Frame_Shift_Del_p.P928fs|RRP12_ENST00000414986.1_Frame_Shift_Del_p.P1149fs|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1210						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTGGTACTGAGGGGGTATCTC	0.557																																																0													170	143	152					10																	99120314		2203	4300	6503	SO:0001589	frameshift_variant	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3629delC	chr10.hg19:g.99120314delG	ENSP00000360031:p.Pro1210fs		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Frame_Shift_Del	DEL	ENST00000370992.4	hg19	CCDS7457.1																																																																																				0.557	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		-	99120314	G	-	99120314	7	5	630	1	0	1	0	1	0	0	0	0	13692	1000	35	0	280	0	RRP12	10	99120314	Frame_Shift_Del	DEL	G	TCGA-DZ-6133-01A-11D-1961-08	5308235	99120314	36414433	47	34318											
HARBI1	283254	hgsc.bcm.edu	37	11	46637368	46637368	+	Silent	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr11:46637368C>A	ENST00000326737.3	-	2	667	c.420G>T	c.(418-420)ggG>ggT	p.G140G	ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000524625.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	140						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCCCTGGCATCCCTGCCAACC	0.512																																																0													201	196	198					11																	46637368		2201	4299	6500	SO:0001819	synonymous_variant	283254			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.420G>T	chr11.hg19:g.46637368C>A			D3DQP9	Silent	SNP	ENST00000326737.3	hg19	CCDS7920.1																																																																																				0.512	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		A	46637368	C	A	46637368	2	1	630	1	0	0	0	0	0	0	0	1	6960	842	30	4		4	HARBI1	11	46637368	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08		46637368	88369148	48	34319											
SAPS3	55291	hgsc.bcm.edu	37	11	68377390	68377390	+	Silent	SNP	T	T	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr11:68377390T>A	ENST00000393800.2	+	23	2723	c.2469T>A	c.(2467-2469)tcT>tcA	p.S823S	PPP6R3_ENST00000393801.3_Silent_p.S829S|PPP6R3_ENST00000524845.1_Silent_p.S794S|PPP6R3_ENST00000534534.1_Silent_p.S591S|PPP6R3_ENST00000524904.1_Silent_p.S817S|PPP6R3_ENST00000529710.1_Silent_p.S743S|PPP6R3_ENST00000393799.2_Silent_p.S829S|PPP6R3_ENST00000265636.5_Silent_p.S743S|PPP6R3_ENST00000265637.4_Silent_p.S777S|PPP6R3_ENST00000527403.2_Silent_p.S788S	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	823					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGAAACTGTCTACCTCTCAAG	0.577																																																0													174	149	157					11																	68377390		2200	4294	6494	SO:0001819	synonymous_variant	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2469T>A	chr11.hg19:g.68377390T>A			Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	hg19	CCDS53672.1																																																																																				0.577	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		A	68377390	T	A	68377390	2	1	630	1	0	0	0	0	0	0	0	1	13844	1509	53	5		5	SAPS3	11	68377390	Silent	SNP	T	TCGA-DZ-6133-01A-11D-1961-08	21740022	68377390	66629126	49	34320											
CACNA1C	775	hgsc.bcm.edu	37	12	2566788	2566788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:2566788G>T	ENST00000347598.4	+	5	673	c.673G>T	c.(673-675)Gga>Tga	p.G225*	CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.G225*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.G225*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	225					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G225R(3)|p.G255R(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAACGCTCTCGGAGGGAAAGG	0.552																																																4	Substitution - Missense(4)	lung(4)											121	135	131					12																	2566788		2035	4188	6223	SO:0001587	stop_gained	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.673G>T	chr12.hg19:g.2566788G>T	ENSP00000266376:p.Gly225*		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Nonsense_Mutation	SNP	ENST00000347598.4	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375230	0.95923	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.6608	0.85240	0.0:0.0:1.0:0.0	.	.	.	.	X	225;225;225;225;225;225;225;225;225;225;225;225;225;225;225;225;225;225;225;225;225;225;225;66	.	ENSP00000323129:G66X	G	+	1	0	CACNA1C	2437049	1.000000	0.71417	0.907000	0.35723	0.604000	0.37047	9.542000	0.98086	2.139000	0.66308	0.563000	0.77884	GGA		0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		T	2566788	G	T	2566788	4	4	630	1	0	0	0	0	0	1	0	0	2542	1117	39	4	691	4	CACNA1C	12	2566788	Nonsense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08		2566788	131285107	50	34321											
PEX5	5830	hgsc.bcm.edu	37	12	7343122	7343122	+	Splice_Site	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:7343122T>C	ENST00000455147.2	+	3	727		c.e3+2		PEX5_ENST00000412720.2_Splice_Site|PEX5_ENST00000266563.5_Splice_Site|PEX5_ENST00000434354.2_Missense_Mutation_p.V50A|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000420616.2_Splice_Site|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000266564.3_Splice_Site	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TCTGAGGCAGTGAGTGTTCTT	0.632																																																0													24	27	26					12																	7343122		2200	4294	6494	SO:0001630	splice_region_variant	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.147+2T>C	chr12.hg19:g.7343122T>C			A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	hg19	CCDS44823.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.99|17.99	3.522704|3.522704	0.64747|0.64747	.|.	.|.	ENSG00000139197|ENSG00000139197	ENST00000542539;ENST00000455147;ENST00000540398;ENST00000266563;ENST00000544456;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000536841;ENST00000537873;ENST00000266564|ENST00000434354;ENST00000396637	.|D;D	.|0.88046	.|-2.33;-2.09	3.59|3.59	3.59|3.59	0.41128|0.41128	.|.	.|.	.|.	.|.	.|.	.|D	.|0.90950	.|0.7155	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.43392	.|0.805	.|P	.|0.59424	.|0.857	.|D	.|0.89996	.|0.4111	.|7	.|.	.|.	.|.	.|.	10.9229|10.9229	0.47176|0.47176	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|50	.|B4DZ45	.|.	.|A	-1|50	.|ENSP00000407401:V50A;ENSP00000379877:V50A	.|.	.|V	+|+	.|2	.|0	PEX5|PEX5	7234389|7234389	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.526000|0.526000	0.34562|0.34562	2.840000|2.840000	0.48215|0.48215	1.654000|1.654000	0.50703|0.50703	0.342000|0.342000	0.21767|0.21767	.|GTG		0.632	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	Intron	C	7343122	T	C	7343122	5	2	630	1	0	0	0	0	0	0	1	0	11750	1710	59	3	151	3	PEX5	12	7343122	Splice_Site	SNP	T	TCGA-DZ-6133-01A-11D-1961-08	4776334	7343122	126508773	51	34322											
ITPR2	3709	hgsc.bcm.edu	37	12	26749865	26749865	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:26749865G>T	ENST00000381340.3	-	31	4621	c.4205C>A	c.(4204-4206)cCg>cAg	p.P1402Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1402					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTCGTCCAGCGGGAGAAGGGA	0.488																																																0													93	94	94					12																	26749865		2067	4214	6281	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4205C>A	chr12.hg19:g.26749865G>T	ENSP00000370744:p.Pro1402Gln		O94773	Missense_Mutation	SNP	ENST00000381340.3	hg19	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546239	0.86022	.	.	ENSG00000123104	ENST00000381340	D	0.92647	-3.08	4.44	4.44	0.53790	.	0.111229	0.64402	D	0.000006	D	0.96219	0.8767	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96883	0.9647	10	0.87932	D	0	.	17.6058	0.88037	0.0:0.0:1.0:0.0	.	1402	Q14571	ITPR2_HUMAN	Q	1402	ENSP00000370744:P1402Q	ENSP00000370744:P1402Q	P	-	2	0	ITPR2	26641132	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.584000	0.98220	2.440000	0.82611	0.650000	0.86243	CCG		0.488	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		T	26749865	G	T	26749865	3	4	630	1	0	0	0	0	1	0	0	0	7923	1116	39	4	4008	4	ITPR2	12	26749865	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	19406743	26749865	107102030	52	34323											
IPO8	10526	hgsc.bcm.edu	37	12	30790088	30790088	+	Silent	SNP	C	C	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:30790088C>G	ENST00000256079.4	-	22	2861	c.2523G>C	c.(2521-2523)ctG>ctC	p.L841L	IPO8_ENST00000544829.1_Silent_p.L636L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	841					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAAGGATACTCAGTCCTATTA	0.393																																																0													133	120	124					12																	30790088		2203	4300	6503	SO:0001819	synonymous_variant	10526			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2523G>C	chr12.hg19:g.30790088C>G			B7Z7M3	Silent	SNP	ENST00000256079.4	hg19	CCDS8719.1																																																																																				0.393	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		G	30790088	C	G	30790088	2	3	630	1	0	0	0	0	0	0	0	1	7800	813	29	4		4	IPO8	12	30790088	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	4040223	30790088	103061807	53	34324											
FAM60A	58516	hgsc.bcm.edu	37	12	31435663	31435663	+	Missense_Mutation	SNP	A	A	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:31435663A>C	ENST00000337682.4	-	6	1017	c.649T>G	c.(649-651)Tcc>Gcc	p.S217A	FAM60A_ENST00000539409.1_Missense_Mutation_p.S69A|FAM60A_ENST00000395766.1_Missense_Mutation_p.S69A|FAM60A_ENST00000542983.1_Missense_Mutation_p.S69A|FAM60A_ENST00000454658.2_Missense_Mutation_p.S217A	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	217					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TCCTGAGTGGAGATGGGCAGA	0.453																																																0													38	40	39					12																	31435663		2203	4297	6500	SO:0001583	missense	58516			AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"chromosome 12 open reading frame 14"	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.649T>G	chr12.hg19:g.31435663A>C	ENSP00000337477:p.Ser217Ala		D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	hg19	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.262656	0.23051	.	.	ENSG00000139146	ENST00000539409;ENST00000337682;ENST00000454658;ENST00000398170;ENST00000395766;ENST00000542983	T;T	0.41758	0.99;0.99	4.26	0.167	0.15006	.	0.592620	0.16969	N	0.192195	T	0.17704	0.0425	N	0.08118	0	0.29822	N	0.830762	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18272	-1.0342	10	0.20519	T	0.43	-15.4818	5.7799	0.18299	0.5453:0.3628:0.0919:0.0	.	217;258	Q9NP50;B7Z287	FA60A_HUMAN;.	A	69;217;217;258;69;69	ENSP00000337477:S217A;ENSP00000393279:S217A	ENSP00000337477:S217A	S	-	1	0	FAM60A	31326930	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.828000	0.27435	0.078000	0.16900	0.482000	0.46254	TCC		0.453	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		C	31435663	A	C	31435663	3	2	630	1	0	0	0	0	1	0	0	0	5597	304	11	5	20	5	FAM60A	12	31435663	Missense_Mutation	SNP	A	TCGA-DZ-6133-01A-11D-1961-08	645575	31435663	102416232	54	34325											
SCN8A	6334	hgsc.bcm.edu	37	12	52145329	52145329	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:52145329delC	ENST00000354534.6	+	14	2500	c.2322delC	c.(2320-2322)cacfs	p.H775fs	SCN8A_ENST00000545061.1_Frame_Shift_Del_p.H775fs|SCN8A_ENST00000550891.1_Frame_Shift_Del_p.H775fs	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	775					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CAATGGAGCACCATCCTATGA	0.418																																																0													147	140	142					12																	52145329		2052	4218	6270	SO:0001589	frameshift_variant	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2322delC	chr12.hg19:g.52145329delC	ENSP00000346534:p.His775fs		B9VWG8|O95788|Q9NYX2|Q9UPB2	Frame_Shift_Del	DEL	ENST00000354534.6	hg19	CCDS44891.1																																																																																				0.418	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		-	52145329	C	-	52145329	7	5	630	1	0	1	0	1	0	0	0	0	13930	506	18	0	2372	0	SCN8A	12	52145329	Frame_Shift_Del	DEL	C	TCGA-DZ-6133-01A-11D-1961-08	20709666	52145329	81706566	55	34326											
TMPO	7112	hgsc.bcm.edu	37	12	98941479	98941479	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:98941479delA	ENST00000556029.1	+	9	1564	c.1208delA	c.(1207-1209)gaafs	p.E403fs	TMPO_ENST00000393053.2_Frame_Shift_Del_p.E294fs|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Frame_Shift_Del_p.E363fs	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	403	Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCAAGTCAGAAAAGACAAAA	0.408																																																0													107	107	107					12																	98941479		2203	4300	6503	SO:0001589	frameshift_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1208delA	chr12.hg19:g.98941479delA	ENSP00000450627:p.Glu403fs		A2T926|Q14861	Frame_Shift_Del	DEL	ENST00000556029.1	hg19	CCDS31879.1																																																																																				0.408	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		-	98941479	A	-	98941479	7	5	630	1	0	1	0	1	0	0	0	0	16242	246	9	0	2766	0	TMPO	12	98941479	Frame_Shift_Del	DEL	A	TCGA-DZ-6133-01A-11D-1961-08	46796150	98941479	34910416	56	34327											
HSP90B1	7184	hgsc.bcm.edu	37	12	104336447	104336447	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:104336447T>C	ENST00000299767.5	+	12	1699	c.1517T>C	c.(1516-1518)cTt>cCt	p.L506P		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	506					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CGAACACGTCTTGCTAAACTT	0.373																																																0													116	113	114					12																	104336447		2203	4300	6503	SO:0001583	missense	7184			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1517T>C	chr12.hg19:g.104336447T>C	ENSP00000299767:p.Leu506Pro		Q96A97	Missense_Mutation	SNP	ENST00000299767.5	hg19	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.696033	0.88830	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.18016	2.24	6.16	6.16	0.99307	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79080	-0.1950	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	506	P14625	ENPL_HUMAN	P	506;256	ENSP00000299767:L506P	ENSP00000299767:L506P	L	+	2	0	HSP90B1	102860577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	CTT		0.373	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		C	104336447	T	C	104336447	3	2	630	1	0	0	0	0	1	0	0	0	7405	1609	56	3	1563	3	HSP90B1	12	104336447	Missense_Mutation	SNP	T	TCGA-DZ-6133-01A-11D-1961-08	5394968	104336447	29515448	57	34328											
MYO1H	283446	hgsc.bcm.edu	37	12	109834250	109834250	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:109834250C>T	ENST00000431443.2	+	3	304	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	MYO1H_ENST00000310903.5_Missense_Mutation_p.L102F	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	102	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCATTTCATCCTCATTTCTGG	0.458																																																0													68	68	68					12																	109834250		1957	4152	6109	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.304C>T	chr12.hg19:g.109834250C>T	ENSP00000444076:p.Leu102Phe		F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	hg19		.	.	.	.	.	.	.	.	.	.	C	23.2	4.392377	0.83011	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.89875	-2.58;-2.58	4.8	4.8	0.61643	.	.	.	.	.	D	0.96914	0.8992	H	0.98370	4.215	0.46981	D	0.999273	D	0.89917	1.0	D	0.91635	0.999	D	0.98431	1.0582	9	0.87932	D	0	.	17.7816	0.88526	0.0:1.0:0.0:0.0	.	102	F5H3C6	.	F	102	ENSP00000439182:L102F;ENSP00000444076:L102F	ENSP00000439182:L102F	L	+	1	0	MYO1H	108318633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.258000	0.51507	2.615000	0.88500	0.644000	0.83932	CTC		0.458	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		T	109834250	C	T	109834250	3	4	630	1	0	0	0	0	1	0	0	0	10077	681	24	2	314	2	MYO1H	12	109834250	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	5497803	109834250	24017645	58	34329											
NCOR2	9612	hgsc.bcm.edu	37	12	124848291	124848291	+	Silent	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:124848291A>G	ENST00000405201.1	-	21	2862	c.2862T>C	c.(2860-2862)aaT>aaC	p.N954N	NCOR2_ENST00000404621.1_Silent_p.N936N|NCOR2_ENST00000356219.3_Silent_p.N954N|NCOR2_ENST00000404121.2_Silent_p.N507N|NCOR2_ENST00000397355.1_Silent_p.N937N|NCOR2_ENST00000429285.2_Silent_p.N936N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	954					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGGTGAGGCATTGGCCCGGG	0.697																																																0													39	56	51					12																	124848291		2023	4151	6174	SO:0001819	synonymous_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2862T>C	chr12.hg19:g.124848291A>G			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	hg19	CCDS41858.2																																																																																				0.697	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		G	124848291	A	G	124848291	2	3	630	1	0	0	0	0	0	0	0	1	10238	214	8	3		3	NCOR2	12	124848291	Silent	SNP	A	TCGA-DZ-6133-01A-11D-1961-08	15014041	124848291	9003604	59	34330											
EP400	57634	hgsc.bcm.edu	37	12	132522561	132522562	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:132522561_132522562GC>AT	ENST00000333577.4	+	33	6344_6345	c.6235_6236GC>AT	c.(6235-6237)GCt>ATt	p.A2079I	EP400_ENST00000389562.2_Missense_Mutation_p.A2042I|EP400_ENST00000332482.4_Missense_Mutation_p.A2006I|EP400_ENST00000389561.2_Missense_Mutation_p.A2043I|EP400_ENST00000330386.6_Missense_Mutation_p.A1962I			Q96L91	EP400_HUMAN	E1A binding protein p400	2079					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCGGTCAAAGCTGAGGAGTTT	0.465																																																0																																										SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		Exception_encountered	chr12.hg19:g.132522561_132522562delinsAT	ENSP00000333602:p.Ala2079Ile		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	hg19																																																																																					0.465	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		AT	132522562	GC	AT	132522561	3	1	630	1	0	0	0	0	1	0	0	0	5151	971	34	2	6246	2	EP400	12	132522561	Missense_Mutation	DNP	GC	TCGA-DZ-6133-01A-11D-1961-08	7674270	132522561	1329334	60	34331											
KBTBD6	89890	hgsc.bcm.edu	37	13	41704906	41704906	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr13:41704906T>C	ENST00000379485.1	-	1	1976	c.1742A>G	c.(1741-1743)aAc>aGc	p.N581S	KBTBD6_ENST00000499385.2_Missense_Mutation_p.N515S	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	581										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGTCACCCGGTTCTTTTTCCA	0.408																																																0													179	179	179					13																	41704906		2203	4300	6503	SO:0001583	missense	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1742A>G	chr13.hg19:g.41704906T>C	ENSP00000368799:p.Asn581Ser		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	hg19	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	t	14.19	2.460466	0.43736	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.66995	-0.24;-0.24	3.8	2.62	0.31277	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	L	0.32530	0.975	0.31105	N	0.710602	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.65092	-0.6252	10	0.36615	T	0.2	.	6.7322	0.23388	0.0:0.1222:0.0:0.8778	.	515;581	F5GZN7;Q86V97	.;KBTB6_HUMAN	S	581;515	ENSP00000368799:N581S;ENSP00000444326:N515S	ENSP00000368799:N581S	N	-	2	0	KBTBD6	40602906	1.000000	0.71417	0.500000	0.27589	0.968000	0.65278	3.578000	0.53892	0.649000	0.30751	0.379000	0.24179	AAC		0.408	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		C	41704906	T	C	41704906	3	2	630	1	0	0	0	0	1	0	0	0	7999	1725	60	3	286	3	KBTBD6	13	41704906	Missense_Mutation	SNP	T	TCGA-DZ-6133-01A-11D-1961-08		41704906	73464972	61	34332											
NALCN	259232	hgsc.bcm.edu	37	13	101944368	101944368	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr13:101944368G>T	ENST00000251127.6	-	9	1101	c.1020C>A	c.(1018-1020)agC>agA	p.S340R	NALCN_ENST00000376196.3_Missense_Mutation_p.S340R|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	340					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGTAGTGCTGCTTCTCGATC	0.438																																																0													317	247	271					13																	101944368		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1020C>A	chr13.hg19:g.101944368G>T	ENSP00000251127:p.Ser340Arg		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	hg19	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936423	0.34189	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98362	-4.55;-4.89	6.16	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	N	0.08118	0	0.80722	D	1	B;B;B	0.22851	0.008;0.076;0.008	B;B;B	0.15870	0.006;0.014;0.006	D	0.89936	0.4069	10	0.23891	T	0.37	.	10.2255	0.43222	0.2563:0.0:0.7437:0.0	.	340;340;340	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	R	340	ENSP00000251127:S340R;ENSP00000365367:S340R	ENSP00000251127:S340R	S	-	3	2	NALCN	100742369	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.963000	0.56773	1.616000	0.50265	0.650000	0.86243	AGC		0.438	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		T	101944368	G	T	101944368	3	4	630	1	0	0	0	0	1	0	0	0	10150	1310	46	4	4340	4	NALCN	13	101944368	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	60239462	101944368	13225510	62	34333											
SIPA1L1	26037	hgsc.bcm.edu	37	14	72055716	72055716	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr14:72055716T>C	ENST00000555818.1	+	2	1475	c.1127T>C	c.(1126-1128)cTg>cCg	p.L376P	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.L376P|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.L376P	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	376					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCTGGACCTCTGTCTCATTCA	0.498																																																0													59	61	60					14																	72055716		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1127T>C	chr14.hg19:g.72055716T>C	ENSP00000450832:p.Leu376Pro		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	T	7.254	0.603889	0.14002	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.78003	-1.14;-1.13;-1.14	6.07	4.94	0.65067	.	0.129948	0.56097	D	0.000037	T	0.55033	0.1895	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.53287	-0.8460	10	0.30078	T	0.28	-17.1009	11.6847	0.51479	0.0:0.0683:0.0:0.9317	.	376;376;376	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	P	376	ENSP00000370630:L376P;ENSP00000450832:L376P;ENSP00000351352:L376P	ENSP00000351352:L376P	L	+	2	0	SIPA1L1	71125469	1.000000	0.71417	0.996000	0.52242	0.343000	0.28985	4.668000	0.61568	2.326000	0.78906	0.533000	0.62120	CTG		0.498	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		C	72055716	T	C	72055716	3	2	630	1	0	0	0	0	1	0	0	0	14335	1580	55	3	1129	3	SIPA1L1	14	72055716	Missense_Mutation	SNP	T	TCGA-DZ-6133-01A-11D-1961-08		72055716	35293824	63	34334											
THBS1	7057	hgsc.bcm.edu	37	15	39885267	39885267	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:39885267T>C	ENST00000260356.5	+	18	2999	c.2834T>C	c.(2833-2835)aTc>aCc	p.I945T	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	945					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ATCGATGACATCTGTCCTGAG	0.478																																																0													78	68	71					15																	39885267		2200	4297	6497	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2834T>C	chr15.hg19:g.39885267T>C	ENSP00000260356:p.Ile945Thr		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	hg19	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852666	0.71719	.	.	ENSG00000137801	ENST00000260356	D	0.98164	-4.76	5.68	5.68	0.88126	.	0.000000	0.36778	N	0.002417	D	0.94598	0.8259	N	0.04880	-0.145	0.49798	D	0.999827	P;P	0.47762	0.725;0.9	B;B	0.43990	0.438;0.387	D	0.95190	0.8307	10	0.39692	T	0.17	-26.1702	15.8963	0.79336	0.0:0.0:0.0:1.0	.	860;945	B4E3J7;P07996	.;TSP1_HUMAN	T	945	ENSP00000260356:I945T	ENSP00000260356:I945T	I	+	2	0	THBS1	37672559	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.036000	0.88901	2.153000	0.67306	0.533000	0.62120	ATC		0.478	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		C	39885267	T	C	39885267	3	2	630	1	0	0	0	0	1	0	0	0	15858	1435	50	3	2900	3	THBS1	15	39885267	Missense_Mutation	SNP	T	TCGA-DZ-6133-01A-11D-1961-08		39885267	62646125	64	34335											
ZFP106	64397	hgsc.bcm.edu	37	15	42742117	42742117	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:42742117C>A	ENST00000263805.4	-	2	2610	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	762					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTTCGGTGACCGCTAATATTG	0.498																																																0													169	166	167					15																	42742117		2203	4299	6502	SO:0001583	missense	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2284G>T	chr15.hg19:g.42742117C>A	ENSP00000263805:p.Gly762Cys		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	hg19	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922319	0.73213	.	.	ENSG00000103994	ENST00000263805	T	0.50813	0.73	5.93	5.93	0.95920	.	0.118074	0.64402	D	0.000020	T	0.58018	0.2093	M	0.61703	1.905	0.80722	D	1	P;P	0.52316	0.952;0.921	P;B	0.51516	0.672;0.395	T	0.57631	-0.7778	10	0.51188	T	0.08	-20.8928	16.562	0.84569	0.131:0.869:0.0:0.0	.	545;762	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	C	762	ENSP00000263805:G762C	ENSP00000263805:G762C	G	-	1	0	ZFP106	40529409	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.703000	0.68340	2.805000	0.96524	0.650000	0.86243	GGT		0.498	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		A	42742117	C	A	42742117	3	1	630	1	0	0	0	0	1	0	0	0	17642	652	23	4	3439	4	ZFP106	15	42742117	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	2856850	42742117	59789275	65	34336											
EPB42	2038	hgsc.bcm.edu	37	15	43508525	43508525	+	Missense_Mutation	SNP	C	C	T	rs202154600		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:43508525C>T	ENST00000441366.2	-	2	362	c.137G>A	c.(136-138)cGc>cAc	p.R46H	EPB42_ENST00000300215.3_Missense_Mutation_p.R76H|EPB42_ENST00000540029.1_Missense_Mutation_p.R46H	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	46					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GACTGGAGCGCGGAAGTACAG	0.597																																																0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	102	90	94		227,137	-5	0	15		94	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	EPB42	NM_000119.2,NM_001114134.1	29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	76/722,46/692	43508525	1,13003	2203	4299	6502	SO:0001583	missense	2038			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.137G>A	chr15.hg19:g.43508525C>T	ENSP00000396616:p.Arg46His		Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	hg19	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569261	0.28003	0.0	1.16E-4	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.84873	-1.91;-1.91;-1.91	5.02	-5.0	0.03001	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.112950	0.06532	N	0.741688	T	0.73860	0.3641	N	0.13235	0.315	0.09310	N	1	P;B;B	0.35774	0.519;0.009;0.003	B;B;B	0.40940	0.344;0.002;0.002	T	0.66040	-0.6022	10	0.46703	T	0.11	-0.001	8.754	0.34635	0.0:0.2841:0.1106:0.6053	.	46;76;46	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	H	76;46;46;46	ENSP00000300215:R76H;ENSP00000444699:R46H;ENSP00000396616:R46H	ENSP00000300215:R76H	R	-	2	0	EPB42	41295817	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.989000	0.03736	-0.915000	0.03823	-0.140000	0.14226	CGC		0.597	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		T	43508525	C	T	43508525	3	4	630	1	0	0	0	0	1	0	0	0	5160	768	27	1	1986	1	EPB42	15	43508525	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	766408	43508525	59022867	66	34337											
HMG20A	10363	hgsc.bcm.edu	37	15	77756662	77756662	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:77756662A>G	ENST00000381714.3	+	4	598	c.170A>G	c.(169-171)cAa>cGa	p.Q57R	HMG20A_ENST00000336216.4_Missense_Mutation_p.Q57R	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	57					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GATCTCTCTCAAGGTCAGTTG	0.448																																																0													130	110	117					15																	77756662		2196	4294	6490	SO:0001583	missense	10363			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"High mobility group / Non-canonical"	5001	protein-coding gene	gene with protein product	"HMG box domain containing 1"	605534	"high-mobility group 20A"			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.170A>G	chr15.hg19:g.77756662A>G	ENSP00000371133:p.Gln57Arg		A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	hg19	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099511	0.56183	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.69926	-0.44;-0.44	5.71	4.59	0.56863	.	0.387563	0.28431	N	0.015378	T	0.67211	0.2869	L	0.27053	0.805	0.36537	D	0.871089	P;B	0.39094	0.659;0.003	P;B	0.55391	0.775;0.007	T	0.72184	-0.4367	10	0.52906	T	0.07	-14.0293	9.4942	0.38978	0.9188:0.0:0.0812:0.0	.	57;57	Q9NP66;Q9NP66-2	HM20A_HUMAN;.	R	57	ENSP00000336856:Q57R;ENSP00000371133:Q57R	ENSP00000336856:Q57R	Q	+	2	0	HMG20A	75543717	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.285000	0.51716	0.993000	0.38866	0.533000	0.62120	CAA		0.448	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		G	77756662	A	G	77756662	3	3	630	1	0	0	0	0	1	0	0	0	7223	130	5	3	176	3	HMG20A	15	77756662	Missense_Mutation	SNP	A	TCGA-DZ-6133-01A-11D-1961-08	34248137	77756662	24774730	67	34338											
TSC2	7249	hgsc.bcm.edu	37	16	2130345	2130345	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr16:2130345G>A	ENST00000219476.3	+	30	4207	c.3577G>A	c.(3577-3579)Ggc>Agc	p.G1193S	TSC2_ENST00000350773.4_Missense_Mutation_p.G1193S|TSC2_ENST00000439673.2_Missense_Mutation_p.G1113S|TSC2_ENST00000382538.6_Missense_Mutation_p.G1101S|TSC2_ENST00000353929.4_Missense_Mutation_p.G1150S|TSC2_ENST00000401874.2_Missense_Mutation_p.G1149S|TSC2_ENST00000568454.1_Missense_Mutation_p.G1160S	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1193					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCTGACCCAGGGCTGGGCGGA	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													41	46	45					16																	2130345		2198	4296	6494	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3577G>A	chr16.hg19:g.2130345G>A	ENSP00000219476:p.Gly1193Ser		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377719	0.95945	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94046	-3.28;-3.29;-3.34;-3.34;-3.24	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.96005	0.8699	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.968;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.99;0.91;1.0;0.999;0.994	D	0.95223	0.8335	10	0.34782	T	0.22	-36.9837	17.7425	0.88411	0.0:0.0:1.0:0.0	.	1101;1113;1193;1149;1149;1193	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	S	1193;1150;1150;1113;1101;1193	ENSP00000219476:G1193S;ENSP00000248099:G1150S;ENSP00000399232:G1113S;ENSP00000371978:G1101S;ENSP00000344383:G1193S	ENSP00000219476:G1193S	G	+	1	0	TSC2	2070346	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.929000	0.92859	2.196000	0.70406	0.561000	0.74099	GGC		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		A	2130345	G	A	2130345	3	1	630	1	0	0	0	0	1	0	0	0	16611	1232	43	2	3691	2	TSC2	16	2130345	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08		2130345	88224408	68	34339											
LOC81691	81691	hgsc.bcm.edu	37	16	20851091	20851091	+	Silent	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr16:20851091C>T	ENST00000261377.6	+	14	1607	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A	AC004381.6_ENST00000564274.1_Silent_p.A466A|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Silent_p.A466A	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TTGAGCAGGCCAGAGTGGAAA	0.448																																																0													288	274	279					16																	20851091		2201	4300	6501	SO:0001819	synonymous_variant	0																														ENST00000261377.6:c.1398C>T	chr16.hg19:g.20851091C>T				Silent	SNP	ENST00000261377.6	hg19	CCDS10591.1																																																																																				0.448	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			T	20851091	C	T	20851091	2	4	630	1	0	0	0	0	0	0	0	1	8892	581	21	2		2	LOC81691	16	20851091	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	18720746	20851091	69503662	69	34340											
DULLARD	23399	hgsc.bcm.edu	37	17	7149598	7149598	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:7149598A>G	ENST00000573600.1	-	6	873	c.452T>C	c.(451-453)aTt>aCt	p.I151T	CTDNEP1_ENST00000572043.1_Missense_Mutation_p.I18T|CTD-2545G14.7_ENST00000570760.2_5'Flank|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.I151T|CTDNEP1_ENST00000574322.1_Missense_Mutation_p.I151T			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	151	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCTCTTAAGAATGCTTCTGCT	0.498																																																0													117	108	111					17																	7149598		2203	4300	6503	SO:0001583	missense	23399			AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	19085	protein-coding gene	gene with protein product	"C-terminal domain nuclear envelope phosphatase 1"	610684	"dullard homolog (Xenopus laevis)"	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.452T>C	chr17.hg19:g.7149598A>G	ENSP00000461749:p.Ile151Thr		D3DTN7|Q96GQ9	Missense_Mutation	SNP	ENST00000573600.1	hg19	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.663502	0.47572	.	.	ENSG00000175826	ENST00000318988	T	0.17691	2.26	4.92	4.92	0.64577	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.057069	0.64402	D	0.000001	T	0.27900	0.0687	M	0.78223	2.4	0.58432	D	0.999998	B	0.21309	0.054	B	0.34038	0.174	T	0.09079	-1.0691	10	0.59425	D	0.04	-8.3255	12.5573	0.56261	1.0:0.0:0.0:0.0	.	151	O95476	CNEP1_HUMAN	T	151	ENSP00000321732:I151T	ENSP00000321732:I151T	I	-	2	0	CTDNEP1	7090322	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.729000	0.84864	2.062000	0.61559	0.482000	0.46254	ATT		0.498	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		G	7149598	A	G	7149598	3	3	630	1	0	0	0	0	1	0	0	0	4801	101	4	3	298	3	DULLARD	17	7149598	Missense_Mutation	SNP	A	TCGA-DZ-6133-01A-11D-1961-08		7149598	74045612	70	34341											
NCOR1	9611	hgsc.bcm.edu	37	17	16089949	16089949	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:16089949G>C	ENST00000268712.3	-	3	418	c.161C>G	c.(160-162)tCa>tGa	p.S54*	NCOR1_ENST00000395848.1_Intron|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S54*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	54	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAAAAGCTGTGATGCCTGACT	0.403																																																0													91	81	84					17																	16089949		2203	4300	6503	SO:0001587	stop_gained	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.161C>G	chr17.hg19:g.16089949G>C	ENSP00000268712:p.Ser54*		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	38	6.755855	0.97813	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	.	.	.	5.78	5.78	0.91487	.	0.177313	0.39407	N	0.001372	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.9916	19.0021	0.92838	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000268712:S54X	S	-	2	0	NCOR1	16030674	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	6.537000	0.73847	2.724000	0.93272	0.563000	0.77884	TCA		0.403	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		C	16089949	G	C	16089949	4	2	630	1	0	0	0	0	0	1	0	0	10237	1294	45	4	7337	4	NCOR1	17	16089949	Nonsense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	8940351	16089949	65105261	71	34342											
SRCIN1	80725	hgsc.bcm.edu	37	17	36708962	36708962	+	Splice_Site	SNP	C	C	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:36708962C>G	ENST00000264659.7	-	12	2555	c.2331G>C	c.(2329-2331)aaG>aaC	p.K777N	SRCIN1_ENST00000578925.1_Splice_Site_p.K811N|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	649					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CAGACCCACCCTTGAGCTCTG	0.632																																																0													54	63	60					17																	36708962		2142	4265	6407	SO:0001630	splice_region_variant	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2332+1G>C	chr17.hg19:g.36708962C>G			Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	hg19	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563310	0.65538	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.54071	0.59	4.73	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.75085	2.285	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.68047	-0.5512	10	0.62326	D	0.03	-8.7012	6.4948	0.22136	0.0:0.7228:0.0:0.2772	.	83;649;649;777	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	N	777;558;631	ENSP00000264659:K777N	ENSP00000264659:K777N	K	-	3	2	SRCIN1	33962488	0.960000	0.32886	1.000000	0.80357	0.960000	0.62799	0.115000	0.15540	1.341000	0.45600	0.555000	0.69702	AAG		0.632	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248	Missense_Mutation	G	36708962	C	G	36708962	5	3	630	1	0	0	0	0	0	0	1	0	15141	695	24	4	1252	4	SRCIN1	17	36708962	Splice_Site	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	20619013	36708962	44486248	72	34343											
CASC3	22794	hgsc.bcm.edu	37	17	38319005	38319005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:38319005G>A	ENST00000264645.7	+	6	862	c.636G>A	c.(634-636)tgG>tgA	p.W212*		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	212	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GAAAGCTATGGAAGGATGAGG	0.493																																																0													72	66	68					17																	38319005		2203	4300	6503	SO:0001587	stop_gained	22794			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.636G>A	chr17.hg19:g.38319005G>A	ENSP00000264645:p.Trp212*		A8K8R0	Nonsense_Mutation	SNP	ENST00000264645.7	hg19	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388249	0.82902	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	4.63	4.63	0.57726	.	0.114993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2823	17.6407	0.88135	0.0:0.0:1.0:0.0	.	.	.	.	X	212	.	ENSP00000264645:W212X	W	+	3	0	CASC3	35572531	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.390000	0.97246	2.565000	0.86533	0.561000	0.74099	TGG		0.493	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		A	38319005	G	A	38319005	4	1	630	1	0	0	0	0	0	1	0	0	2663	1183	41	2	658	2	CASC3	17	38319005	Nonsense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	1610043	38319005	42876205	73	34344											
COIL	8161	hgsc.bcm.edu	37	17	55028268	55028268	+	Missense_Mutation	SNP	C	C	A	rs373166690		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:55028268C>A	ENST00000240316.4	-	2	369	c.335G>T	c.(334-336)cGg>cTg	p.R112L		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	112						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTGAAATGCCCGCTTCTTTGC	0.368																																																0													94	98	97					17																	55028268		2202	4300	6502	SO:0001583	missense	8161			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.335G>T	chr17.hg19:g.55028268C>A	ENSP00000240316:p.Arg112Leu		B2R931	Missense_Mutation	SNP	ENST00000240316.4	hg19	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334670	0.81801	.	.	ENSG00000121058	ENST00000240316	.	.	.	5.84	5.84	0.93424	.	0.238035	0.41194	D	0.000936	T	0.58722	0.2142	L	0.32530	0.975	0.34176	D	0.670392	D	0.89917	1.0	D	0.72982	0.979	T	0.69390	-0.5158	9	0.72032	D	0.01	-17.0434	8.6284	0.33904	0.0:0.7665:0.154:0.0795	.	112	P38432	COIL_HUMAN	L	112	.	ENSP00000240316:R112L	R	-	2	0	COIL	52383267	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.790000	0.47821	2.748000	0.94277	0.650000	0.86243	CGG		0.368	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			A	55028268	C	A	55028268	3	1	630	1	0	0	0	0	1	0	0	0	3667	652	23	4	1419	4	COIL	17	55028268	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	16709263	55028268	26166942	74	34345											
MPO	4353	hgsc.bcm.edu	37	17	56348163	56348163	+	Missense_Mutation	SNP	A	A	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:56348163A>T	ENST00000225275.3	-	12	2268	c.2092T>A	c.(2092-2094)Tca>Aca	p.S698T	MPO_ENST00000340482.3_Missense_Mutation_p.S730T	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	698					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CGGGGCAATGAGATCTGGGCC	0.547																																																0													233	180	198					17																	56348163		2203	4300	6503	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2092T>A	chr17.hg19:g.56348163A>T	ENSP00000225275:p.Ser698Thr		A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	hg19	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973327	0.53614	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.68624	-0.34;-0.34	5.76	3.3	0.37823	.	0.161988	0.56097	N	0.000025	T	0.56601	0.1996	L	0.33792	1.035	0.80722	D	1	B	0.19817	0.039	B	0.29524	0.103	T	0.55237	-0.8172	10	0.51188	T	0.08	-34.2797	11.513	0.50504	0.7489:0.0:0.0:0.2511	.	698	P05164	PERM_HUMAN	T	730;698	ENSP00000344419:S730T;ENSP00000225275:S698T	ENSP00000225275:S698T	S	-	1	0	MPO	53703162	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.270000	0.43355	0.973000	0.38340	0.533000	0.62120	TCA		0.547	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			T	56348163	A	T	56348163	3	4	630	1	0	0	0	0	1	0	0	0	9734	304	11	5	149	5	MPO	17	56348163	Missense_Mutation	SNP	A	TCGA-DZ-6133-01A-11D-1961-08	1319895	56348163	24847047	75	34346											
KCNJ16	3773	hgsc.bcm.edu	37	17	68129132	68129132	+	Silent	SNP	C	C	A	rs142625269		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:68129132C>A	ENST00000589377.1	+	2	1067	c.904C>A	c.(904-906)Cga>Aga	p.R302R	KCNJ16_ENST00000283936.1_Silent_p.R302R|KCNJ16_ENST00000585558.1_Silent_p.R337R|KCNJ16_ENST00000392671.1_Silent_p.R302R|KCNJ16_ENST00000586462.1_Silent_p.R341R|KCNJ16_ENST00000392670.1_Silent_p.R302R	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	302					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CTATGTTCCCCGAGAAATTCT	0.393																																																0													76	82	80					17																	68129132		2203	4300	6503	SO:0001819	synonymous_variant	3773			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.904C>A	chr17.hg19:g.68129132C>A				Silent	SNP	ENST00000589377.1	hg19	CCDS11687.1																																																																																				0.393	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		A	68129132	C	A	68129132	2	1	630	1	0	0	0	0	0	0	0	1	8052	644	23	4		4	KCNJ16	17	68129132	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	11780969	68129132	13066078	76	34347											
RAB37	326624	hgsc.bcm.edu	37	17	72736999	72736999	+	Silent	SNP	C	C	A	rs146770958	byFrequency	TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:72736999C>A	ENST00000392613.5	+	2	242	c.186C>A	c.(184-186)acC>acA	p.T62T	RAB37_ENST00000392612.3_Intron|RAB37_ENST00000392610.1_Silent_p.T62T|RAB37_ENST00000392614.4_Silent_p.T67T|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000528438.1_Silent_p.T35T|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392615.5_Intron	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	62					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TCATAGCCACCGTCGGCATAG	0.597																																																0													101	99	99					17																	72736999		2203	4300	6503	SO:0001819	synonymous_variant	326624			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.186C>A	chr17.hg19:g.72736999C>A			A8MXF5|A8MYT0|Q8IWA7	Silent	SNP	ENST00000392613.5	hg19	CCDS32722.1																																																																																				0.597	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		A	72736999	C	A	72736999	2	1	630	1	0	0	0	0	0	0	0	1	12933	639	23	4		4	RAB37	17	72736999	Silent	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	4607867	72736999	8458211	77	34348											
PSMD8	5714	hgsc.bcm.edu	37	19	38874011	38874011	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:38874011A>G	ENST00000215071.4	+	7	1100	c.1034A>G	c.(1033-1035)cAg>cGg	p.Q345R	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_5'Flank|PSMD8_ENST00000602911.1_Missense_Mutation_p.Q282R	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	345					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TATGCCCGGCAGCTGGAGATG	0.557																																																0													49	41	43					19																	38874011		2203	4300	6503	SO:0001583	missense	5714			D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"Proteasome (prosome, macropain) subunits"	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.1034A>G	chr19.hg19:g.38874011A>G	ENSP00000215071:p.Gln345Arg		B4DX18|Q6P1L7	Missense_Mutation	SNP	ENST00000215071.4	hg19	CCDS12515.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459422	0.84317	.	.	ENSG00000099341	ENST00000215071	.	.	.	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	L	0.47190	1.495	0.80722	D	1	D	0.54207	0.965	P	0.45071	0.468	T	0.54234	-0.8324	9	0.62326	D	0.03	-19.6009	11.6721	0.51408	1.0:0.0:0.0:0.0	.	345	P48556	PSMD8_HUMAN	R	345	.	ENSP00000215071:Q345R	Q	+	2	0	PSMD8	43565851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.193000	0.89719	1.919000	0.55581	0.448000	0.29417	CAG		0.557	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319627.1	NM_002812		G	38874011	A	G	38874011	3	3	630	1	0	0	0	0	1	0	0	0	12709	188	7	3	1060	3	PSMD8	19	38874011	Missense_Mutation	SNP	A	TCGA-DZ-6133-01A-11D-1961-08		38874011	20254972	78	34349											
CEACAM6	4680	hgsc.bcm.edu	37	19	42260867	42260867	+	Splice_Site	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:42260867C>A	ENST00000199764.6	+	2	642	c.424C>A	c.(424-426)Ccg>Acg	p.P142T	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	142	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P142S(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCATGTATACCGTGAGTATTT	0.488																																																1	Substitution - Missense(1)	breast(1)											242	241	241					19																	42260867		2203	4300	6503	SO:0001630	splice_region_variant	4680			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.424+1C>A	chr19.hg19:g.42260867C>A			Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	hg19	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457601	0.12342	.	.	ENSG00000086548	ENST00000199764	T	0.20881	2.04	2.15	-0.876	0.10624	.	.	.	.	.	T	0.13927	0.0337	L	0.48877	1.53	0.09310	N	1	B	0.19817	0.039	B	0.24006	0.05	T	0.41998	-0.9477	9	0.02654	T	1	.	7.1362	0.25529	0.0:0.4392:0.5608:0.0	.	142	P40199	CEAM6_HUMAN	T	142	ENSP00000199764:P142T	ENSP00000199764:P142T	P	+	1	0	CEACAM6	46952707	0.001000	0.12720	0.010000	0.14722	0.046000	0.14306	-1.270000	0.02831	0.164000	0.19529	0.305000	0.20034	CCG		0.488	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1		Missense_Mutation	A	42260867	C	A	42260867	5	1	630	1	0	0	0	0	0	0	1	0	3198	666	23	4	430	4	CEACAM6	19	42260867	Splice_Site	SNP	C	TCGA-DZ-6133-01A-11D-1961-08	3386856	42260867	16868116	79	34350											
ZNF180	7733	hgsc.bcm.edu	37	19	44981073	44981073	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:44981073G>C	ENST00000221327.4	-	5	1906	c.1625C>G	c.(1624-1626)aCt>aGt	p.T542S	ZNF180_ENST00000592529.1_Missense_Mutation_p.T515S|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.T517S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TCCAGTGTGAGTTCTTTGATG	0.423																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)											0													77	77	77					19																	44981073		2203	4300	6503	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1625C>G	chr19.hg19:g.44981073G>C	ENSP00000221327:p.Thr542Ser		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	hg19	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808114	0.50421	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.00662	5.93;5.93	5.23	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000561	T	0.01029	0.0034	L	0.38692	1.165	0.80722	D	1	P;P;P	0.45428	0.828;0.858;0.858	B;P;P	0.47981	0.335;0.563;0.563	T	0.68884	-0.5291	10	0.62326	D	0.03	-11.2816	5.453	0.16574	0.1458:0.0:0.6595:0.1947	.	517;541;542	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	S	542;517	ENSP00000221327:T542S;ENSP00000375818:T517S	ENSP00000221327:T542S	T	-	2	0	ZNF180	49672913	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.203000	0.17315	2.437000	0.82529	0.467000	0.42956	ACT		0.423	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		C	44981073	G	C	44981073	3	2	630	1	0	0	0	0	1	0	0	0	17753	1029	36	4	457	4	ZNF180	19	44981073	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	2720206	44981073	14147910	80	34351											
LILRA3	11026	hgsc.bcm.edu	37	19	54803120	54803120	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:54803120G>T	ENST00000251390.3	-	4	648	c.557C>A	c.(556-558)cCc>cAc	p.P186H	LILRA3_ENST00000391745.1_Missense_Mutation_p.P203H|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	186	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTCACGGGGCCCACGGA	0.587																																																0													134	113	120					19																	54803120		2195	4162	6357	SO:0001583	missense	11026			U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.557C>A	chr19.hg19:g.54803120G>T	ENSP00000251390:p.Pro186His		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	hg19	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877305	0.33162	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.03124	4.04;4.04	2.21	1.09	0.20402	Immunoglobulin-like fold (1);	0.593476	0.14797	N	0.297850	T	0.16214	0.0390	M	0.87269	2.87	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03534	-1.1027	10	0.87932	D	0	.	5.2465	0.15500	0.1757:0.0:0.8243:0.0	.	186	Q8N6C8	LIRA3_HUMAN	H	186;203	ENSP00000251390:P186H;ENSP00000375625:P203H	ENSP00000251390:P186H	P	-	2	0	LILRA3	59494932	0.002000	0.14202	0.008000	0.14137	0.032000	0.12392	0.663000	0.25053	0.493000	0.27837	0.586000	0.80456	CCC		0.587	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			T	54803120	G	T	54803120	3	4	630	1	0	0	0	0	1	0	0	0	8788	1232	43	4	778	4	LILRA3	19	54803120	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08	9822047	54803120	4325863	81	34352											
ZNF324B	388569	hgsc.bcm.edu	37	19	58966903	58966903	+	Missense_Mutation	SNP	T	T	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:58966903T>A	ENST00000336614.4	+	4	699	c.592T>A	c.(592-594)Tgt>Agt	p.C198S	ZNF324B_ENST00000391696.1_Missense_Mutation_p.C188S|ZNF324B_ENST00000545523.1_Missense_Mutation_p.C198S	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGAAGCCATGTGCACAGGA	0.672																																																0													36	40	39					19																	58966903		2203	4300	6503	SO:0001583	missense	388569			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.592T>A	chr19.hg19:g.58966903T>A	ENSP00000337473:p.Cys198Ser		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	hg19	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756192	0.31137	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.06294	3.49;3.49;3.32	2.7	-1.7	0.08159	.	3.208830	0.01016	N	0.003905	T	0.05364	0.0142	L	0.27053	0.805	0.09310	N	1	B;B	0.23185	0.081;0.003	B;B	0.16289	0.015;0.002	T	0.39078	-0.9631	10	0.62326	D	0.03	.	4.2594	0.10733	0.0:0.2411:0.2439:0.5151	.	198;188	Q6AW86;C9JTQ8	Z324B_HUMAN;.	S	198;198;188	ENSP00000337473:C198S;ENSP00000438930:C198S;ENSP00000375578:C188S	ENSP00000337473:C198S	C	+	1	0	ZNF324B	63658715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.422000	0.02453	-0.415000	0.07484	0.402000	0.26972	TGT		0.672	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		A	58966903	T	A	58966903	3	1	630	1	0	0	0	0	1	0	0	0	17850	1464	51	5	602	5	ZNF324B	19	58966903	Missense_Mutation	SNP	T	TCGA-DZ-6133-01A-11D-1961-08	4163783	58966903	162080	82	34353											
EPB41L1	2036	hgsc.bcm.edu	37	20	34800245	34800245	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr20:34800245A>G	ENST00000338074.2	+	16	2292	c.2131A>G	c.(2131-2133)Att>Gtt	p.I711V	EPB41L1_ENST00000373941.1_Missense_Mutation_p.I711V|EPB41L1_ENST00000441639.1_Missense_Mutation_p.I637V|EPB41L1_ENST00000373946.3_Missense_Mutation_p.I531V|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000202028.5_Missense_Mutation_p.I637V|EPB41L1_ENST00000373950.2_Missense_Mutation_p.I602V	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	711					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TAGAAAGAAGATTGAGCCGGA	0.493																																																0													88	79	82					20																	34800245		2203	4300	6503	SO:0001583	missense	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2131A>G	chr20.hg19:g.34800245A>G	ENSP00000337168:p.Ile711Val		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	hg19	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050564	0.55218	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226	D;D;D;D;D;D	0.83755	-1.76;-1.59;-1.76;-1.66;-1.66;-1.62	5.78	4.61	0.57282	.	.	.	.	.	T	0.71099	0.3300	N	0.24115	0.695	0.23391	N	0.997771	B;B;B;B;B;B	0.22983	0.078;0.01;0.047;0.004;0.007;0.0	B;B;B;B;B;B	0.21917	0.018;0.004;0.037;0.004;0.002;0.001	T	0.56786	-0.7921	9	0.24483	T	0.36	.	9.5214	0.39138	0.8228:0.1772:0.0:0.0	.	711;711;531;602;602;637	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	V	637;602;711;602;637;531;711;711;72	ENSP00000202028:I637V;ENSP00000363061:I602V;ENSP00000399214:I637V;ENSP00000363057:I531V;ENSP00000337168:I711V;ENSP00000363052:I711V	ENSP00000202028:I637V	I	+	1	0	EPB41L1	34263659	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.624000	0.37018	2.333000	0.79357	0.533000	0.62120	ATT		0.493	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		G	34800245	A	G	34800245	3	3	630	1	0	0	0	0	1	0	0	0	5154	333	12	3	2189	3	EPB41L1	20	34800245	Missense_Mutation	SNP	A	TCGA-DZ-6133-01A-11D-1961-08		34800245	28225275	83	34354											
SETD4	54093	hgsc.bcm.edu	37	21	37410517	37410517	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr21:37410517C>G	ENST00000399215.1	-	9	2491	c.1119G>C	c.(1117-1119)aaG>aaC	p.K373N	SETD4_ENST00000399212.1_Missense_Mutation_p.K349N|SETD4_ENST00000481477.1_5'UTR|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000332131.4_Missense_Mutation_p.K373N			Q9NVD3	SETD4_HUMAN	SET domain containing 4	373				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CCAAACTTGTCTTCTCATTCG	0.353																																																0													179	173	175					21																	37410517		2202	4300	6502	SO:0001583	missense	54093			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1119G>C	chr21.hg19:g.37410517C>G	ENSP00000382163:p.Lys373Asn		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	hg19	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278952	0.59758	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.18174	2.23;2.23;2.23	5.79	3.99	0.46301	Rubisco LS methyltransferase, substrate-binding domain (1);	0.633406	0.17880	N	0.158893	T	0.19046	0.0457	L	0.57536	1.79	0.80722	D	1	P;P	0.39920	0.646;0.695	B;B	0.40134	0.214;0.32	T	0.02307	-1.1179	10	0.18276	T	0.48	-14.3562	12.2959	0.54847	0.0:0.8635:0.0:0.1365	.	349;373	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	N	373;349;373	ENSP00000382163:K373N;ENSP00000382161:K349N;ENSP00000329189:K373N	ENSP00000329189:K373N	K	-	3	2	SETD4	36332387	0.996000	0.38824	0.885000	0.34714	0.989000	0.77384	2.608000	0.46308	0.799000	0.34018	0.561000	0.74099	AAG		0.353	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		G	37410517	C	G	37410517	3	3	630	1	0	0	0	0	1	0	0	0	14139	912	32	4	211	4	SETD4	21	37410517	Missense_Mutation	SNP	C	TCGA-DZ-6133-01A-11D-1961-08		37410517	10719378	84	34355											
CERK	64781	hgsc.bcm.edu	37	22	47108141	47108141	+	Missense_Mutation	SNP	T	T	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr22:47108141T>G	ENST00000216264.8	-	4	541	c.429A>C	c.(427-429)aaA>aaC	p.K143N	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	143	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCCTTGTCCTTTTCCTCCAA	0.388																																																0													241	179	200					22																	47108141		2203	4300	6503	SO:0001583	missense	64781			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.429A>C	chr22.hg19:g.47108141T>G	ENSP00000216264:p.Lys143Asn		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	hg19	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686429	0.47991	.	.	ENSG00000100422	ENST00000216264	T	0.15487	2.42	5.2	-1.83	0.07833	Diacylglycerol kinase, catalytic domain (3);	0.109682	0.64402	D	0.000007	T	0.43366	0.1244	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.49409	-0.8943	10	0.72032	D	0.01	-14.0309	12.0935	0.53742	0.0:0.6281:0.0:0.3719	.	143	Q8TCT0	CERK1_HUMAN	N	143	ENSP00000216264:K143N	ENSP00000216264:K143N	K	-	3	2	CERK	45486805	0.957000	0.32711	0.303000	0.25071	0.328000	0.28507	1.095000	0.30964	-0.493000	0.06678	0.460000	0.39030	AAA		0.388	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		G	47108141	T	G	47108141	3	3	630	1	0	0	0	0	1	0	0	0	3269	1606	56	5	1224	5	CERK	22	47108141	Missense_Mutation	SNP	T	TCGA-DZ-6133-01A-11D-1961-08		47108141	4196425	85	34356											
FAM123B	139285	hgsc.bcm.edu	37	X	63411696	63411696	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chrX:63411696G>A	ENST00000330258.3	-	2	1743	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	AMER1_ENST00000403336.1_Missense_Mutation_p.R491C|AMER1_ENST00000374869.3_Missense_Mutation_p.R491C	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	491					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CAATCCCTGCGGACAAGCCCC	0.522																																																67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											61	50	54					X																	63411696		2203	4300	6503	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1471C>T	chrX.hg19:g.63411696G>A	ENSP00000329117:p.Arg491Cys		A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	hg19	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	7.831	0.719945	0.15372	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.19532	2.14;2.14;2.14	5.21	3.3	0.37823	.	1.072280	0.07227	N	0.861857	T	0.17704	0.0425	N	0.24115	0.695	0.09310	N	1	P	0.45531	0.86	B	0.40329	0.326	T	0.25984	-1.0116	10	0.72032	D	0.01	0.0109	11.6933	0.51529	0.0:0.0:0.6193:0.3806	.	491	Q5JTC6	F123B_HUMAN	C	491	ENSP00000364003:R491C;ENSP00000329117:R491C;ENSP00000384722:R491C	ENSP00000329117:R491C	R	-	1	0	FAM123B	63328421	0.008000	0.16893	0.004000	0.12327	0.604000	0.37047	1.430000	0.34914	1.289000	0.44618	0.600000	0.82982	CGC		0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		A	63411696	G	A	63411696	3	1	630	1	0	0	0	0	1	0	0	0	5425	1116	39	1	1940	1	FAM123B	23	63411696	Missense_Mutation	SNP	G	TCGA-DZ-6133-01A-11D-1961-08		63411696	91858864	86	34357											
HIVEP3	59269	hgsc.bcm.edu	37	1	42048765	42048765	+	Silent	SNP	G	G	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:42048765G>T	ENST00000372583.1	-	4	2589	c.1704C>A	c.(1702-1704)acC>acA	p.T568T	HIVEP3_ENST00000247584.5_Silent_p.T568T|HIVEP3_ENST00000429157.2_Silent_p.T568T|HIVEP3_ENST00000372584.1_Silent_p.T568T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	568	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T568T(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTTCGGAGTCGGTGATATGGT	0.587																																																1	Substitution - coding silent(1)	endometrium(1)											49	52	51					1																	42048765		2203	4300	6503	SO:0001819	synonymous_variant	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1704C>A	chr1.hg19:g.42048765G>T			A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	hg19	CCDS463.1																																																																																				0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		T	42048765	G	T	42048765	2	4	631	1	0	0	0	0	0	0	0	1	7190	1103	39	4		4	HIVEP3	1	42048765	Silent	SNP	G	TCGA-DZ-6134-01A-11D-1961-08		42048765	207201856	1	34358											
POGZ	23126	hgsc.bcm.edu	37	1	151378756	151378756	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:151378756G>A	ENST00000271715.2	-	19	3069	c.2755C>T	c.(2755-2757)Cca>Tca	p.P919S	POGZ_ENST00000392723.1_Missense_Mutation_p.P866S|POGZ_ENST00000368863.2_Missense_Mutation_p.P824S|POGZ_ENST00000409503.1_Missense_Mutation_p.P910S|POGZ_ENST00000361398.3_Missense_Mutation_p.P866S|POGZ_ENST00000491586.1_Missense_Mutation_p.P875S|POGZ_ENST00000540984.1_Missense_Mutation_p.P281S|POGZ_ENST00000531094.1_Missense_Mutation_p.P857S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	919	Pro-rich.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGGGGTTGGTGGTGGGGTT	0.592																																																0													73	73	73					1																	151378756		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2755C>T	chr1.hg19:g.151378756G>A	ENSP00000271715:p.Pro919Ser		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	hg19	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653454	0.29425	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.23552	5.88;5.91;5.88;5.84;5.89;5.88;1.9;5.37	5.87	3.95	0.45737	.	0.748779	0.12616	N	0.453449	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001;0.0	T	0.34527	-0.9825	10	0.45353	T	0.12	-1.4299	8.593	0.33699	0.0805:0.2988:0.6207:0.0	.	857;910;824;875;866;919	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	S	866;919;866;824;910;857;281;875	ENSP00000376484:P866S;ENSP00000271715:P919S;ENSP00000354467:P866S;ENSP00000357856:P824S;ENSP00000386836:P910S;ENSP00000431259:P857S;ENSP00000443547:P281S;ENSP00000418408:P875S	ENSP00000271715:P919S	P	-	1	0	POGZ	149645380	0.165000	0.22948	0.788000	0.31933	0.966000	0.64601	0.747000	0.26290	1.446000	0.47643	0.655000	0.94253	CCA		0.592	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		A	151378756	G	A	151378756	3	1	631	1	0	0	0	0	1	0	0	0	12188	1261	44	2	1481	2	POGZ	1	151378756	Missense_Mutation	SNP	G	TCGA-DZ-6134-01A-11D-1961-08	109329991	151378756	97871865	2	34359											
ACTA1	58	hgsc.bcm.edu	37	1	229568083	229568083	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr1:229568083C>T	ENST00000366684.3	-	4	652	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	184			G -> D (in NEM3; mild). {ECO:0000269|PubMed:10508519, ECO:0000269|PubMed:15236405}.		cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				AGATCGCGGCCCGCCAGGTCC	0.677																																																0													38	37	38					1																	229568083		2203	4299	6502	SO:0001583	missense	58			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.550G>A	chr1.hg19:g.229568083C>T	ENSP00000355645:p.Gly184Ser		P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	hg19	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399571	0.62177	.	.	ENSG00000143632	ENST00000366684;ENST00000366682	D	0.99586	-6.23	4.58	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99609	4.655	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.96775	0.9571	10	0.87932	D	0	.	12.6981	0.57016	0.0:0.9198:0.0:0.0802	.	184	P68133	ACTS_HUMAN	S	184;149	ENSP00000355645:G184S	ENSP00000355643:G149S	G	-	1	0	ACTA1	227634706	1.000000	0.71417	0.846000	0.33378	0.920000	0.55202	7.545000	0.82128	1.143000	0.42306	0.650000	0.86243	GGC		0.677	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		T	229568083	C	T	229568083	3	4	631	1	0	0	0	0	1	0	0	0	191	623	22	2	599	2	ACTA1	1	229568083	Missense_Mutation	SNP	C	TCGA-DZ-6134-01A-11D-1961-08	78189327	229568083	19682538	3	34360											
PDIA6	10130	hgsc.bcm.edu	37	2	10927529	10927529	+	Silent	SNP	A	A	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr2:10927529A>T	ENST00000272227.3	-	11	1182	c.1035T>A	c.(1033-1035)ctT>ctA	p.L345L	PDIA6_ENST00000404371.2_Silent_p.L397L|PDIA6_ENST00000404824.2_Silent_p.L393L|PDIA6_ENST00000381611.4_Silent_p.L350L|PDIA6_ENST00000540494.1_Silent_p.L342L	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	345					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ACGCGGTCTCAAGTTCAGACT	0.488																																					GBM(73;509 1219 34219 41343 41551)											0													81	83	82					2																	10927529		2203	4300	6503	SO:0001819	synonymous_variant	10130			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1035T>A	chr2.hg19:g.10927529A>T			B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	hg19	CCDS1675.1																																																																																				0.488	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		T	10927529	A	T	10927529	2	4	631	1	0	0	0	0	0	0	0	1	11674	117	5	5		5	PDIA6	2	10927529	Silent	SNP	A	TCGA-DZ-6134-01A-11D-1961-08		10927529	232271844	4	34361											
WNT10A	80326	hgsc.bcm.edu	37	2	219754883	219754883	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr2:219754883G>A	ENST00000258411.3	+	3	1187	c.554G>A	c.(553-555)gGt>gAt	p.G185D		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	185					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCAGCGTGGTAAGGGCCTG	0.672																																																0													48	43	45					2																	219754883		2203	4300	6503	SO:0001583	missense	80326			AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"Wingless-type MMTV integration sites"	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.554G>A	chr2.hg19:g.219754883G>A	ENSP00000258411:p.Gly185Asp		Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	hg19	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760111	0.89932	.	.	ENSG00000135925	ENST00000258411	T	0.75821	-0.97	4.46	4.46	0.54185	.	0.408178	0.26328	N	0.025007	D	0.84165	0.5412	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	D	0.64144	0.922	D	0.86269	0.1660	10	0.72032	D	0.01	.	16.6424	0.85129	0.0:0.0:1.0:0.0	.	185	Q9GZT5	WN10A_HUMAN	D	185	ENSP00000258411:G185D	ENSP00000258411:G185D	G	+	2	0	WNT10A	219463127	1.000000	0.71417	0.795000	0.32087	0.929000	0.56500	9.117000	0.94347	2.478000	0.83669	0.655000	0.94253	GGT		0.672	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		A	219754883	G	A	219754883	3	1	631	1	0	0	0	0	1	0	0	0	17387	1261	44	2	564	2	WNT10A	2	219754883	Missense_Mutation	SNP	G	TCGA-DZ-6134-01A-11D-1961-08	208827354	219754883	23444490	5	34362											
PIK3CA	5290	hgsc.bcm.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	chr3.hg19:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	hg19	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			A	178936082	G	A	178936082	3	1	631	1	0	0	0	0	1	0	0	0	11915	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-DZ-6134-01A-11D-1961-08		178936082	19086348	6	34363											
NPNT	255743	hgsc.bcm.edu	37	4	106859521	106859521	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr4:106859521G>T	ENST00000379987.2	+	5	665	c.449G>T	c.(448-450)cGg>cTg	p.R150L	NPNT_ENST00000427316.2_Missense_Mutation_p.R180L|NPNT_ENST00000305572.8_Missense_Mutation_p.R150L|NPNT_ENST00000506666.1_Missense_Mutation_p.R180L|NPNT_ENST00000514622.1_Missense_Mutation_p.R150L|NPNT_ENST00000453617.2_Missense_Mutation_p.R167L	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	150	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GGACAAATACGGTGCCAGTGC	0.532																																																0													90	81	84					4																	106859521		2203	4300	6503	SO:0001583	missense	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.449G>T	chr4.hg19:g.106859521G>T	ENSP00000369323:p.Arg150Leu		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	hg19	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443175	0.63067	.	.	ENSG00000168743	ENST00000504304;ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	D;D;D;T;D;D;T;T	0.86865	-2.18;-2.18;-2.18;-1.05;-2.18;-2.18;-1.07;-0.22	5.22	4.37	0.52481	Epidermal growth factor-like (1);	0.052801	0.85682	D	0.000000	D	0.91764	0.7395	M	0.66506	2.035	0.58432	D	0.999998	D;D;D;D;D;D;D	0.71674	0.998;0.992;0.996;0.985;0.996;0.965;0.997	D;P;P;P;P;P;D	0.69654	0.954;0.86;0.903;0.86;0.903;0.826;0.965	D	0.91899	0.5530	10	0.52906	T	0.07	.	14.1773	0.65549	0.0729:0.0:0.9271:0.0	.	150;180;180;167;197;150;150	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9	.;.;.;.;.;.;NPNT_HUMAN	L	46;150;167;180;150;150;180;197	ENSP00000426951:R46L;ENSP00000369323:R150L;ENSP00000402884:R167L;ENSP00000389252:R180L;ENSP00000422044:R150L;ENSP00000302557:R150L;ENSP00000422474:R180L;ENSP00000426146:R197L	ENSP00000302557:R150L	R	+	2	0	NPNT	107078970	1.000000	0.71417	0.298000	0.25002	0.165000	0.22458	6.341000	0.72977	1.325000	0.45301	0.655000	0.94253	CGG		0.532	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		T	106859521	G	T	106859521	3	4	631	1	0	0	0	0	1	0	0	0	10592	1116	39	4	616	4	NPNT	4	106859521	Missense_Mutation	SNP	G	TCGA-DZ-6134-01A-11D-1961-08		106859521	84294755	7	34364											
CRIP3	401262	hgsc.bcm.edu	37	6	43275462	43275462	+	Silent	SNP	T	T	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr6:43275462T>C	ENST00000274990.4	-	4	220	c.216A>G	c.(214-216)gtA>gtG	p.V72V	ZNF318_ENST00000607252.1_5'UTR|CRIP3_ENST00000372569.3_Silent_p.V72V			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	72					T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGTAGGAGCCTACACCACCAA	0.627																																																0													45	48	47					6																	43275462		2203	4300	6503	SO:0001819	synonymous_variant	401262			AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.216A>G	chr6.hg19:g.43275462T>C			A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Silent	SNP	ENST00000274990.4	hg19		.	.	.	.	.	.	.	.	.	.	T	7.040	0.562412	0.13498	.	.	ENSG00000146215	ENST00000416431	.	.	.	5.52	3.63	0.41609	.	.	.	.	.	T	0.33323	0.0859	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30592	-0.9973	4	.	.	.	-35.039	4.1803	0.10372	0.1604:0.5979:0.1554:0.0862	.	.	.	.	G	20	.	.	R	-	1	2	CRIP3	43383440	0.290000	0.24343	1.000000	0.80357	0.744000	0.42396	-0.819000	0.04462	1.470000	0.48102	-0.132000	0.14878	AGG		0.627	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1			C	43275462	T	C	43275462	2	2	631	1	0	0	0	0	0	0	0	1	3878	1509	53	3		3	CRIP3	6	43275462	Silent	SNP	T	TCGA-DZ-6134-01A-11D-1961-08		43275462	127839605	8	34365											
BCLAF1	9774	hgsc.bcm.edu	37	6	136599912	136599912	+	Missense_Mutation	SNP	G	G	T	rs200334350		TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr6:136599912G>T	ENST00000531224.1	-	4	359	c.107C>A	c.(106-108)tCt>tAt	p.S36Y	BCLAF1_ENST00000530767.1_Missense_Mutation_p.S36Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S36Y|BCLAF1_ENST00000527759.1_Intron|BCLAF1_ENST00000353331.4_Intron|BCLAF1_ENST00000392348.2_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	36					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACGAGACCTAGAACTAAAAAT	0.318																																					Colon(142;1534 1789 5427 7063 28491)											0													23	24	24					6																	136599912		2199	4289	6488	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.107C>A	chr6.hg19:g.136599912G>T	ENSP00000435210:p.Ser36Tyr		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	hg19	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	5.506	0.278344	0.10403	.	.	ENSG00000029363	ENST00000531224;ENST00000527536;ENST00000530767;ENST00000529826	T;T;T;T	0.46819	1.23;1.07;0.86;0.93	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000004	T	0.63295	0.2499	M	0.61703	1.905	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.74348	0.983;0.983	T	0.64245	-0.6453	10	0.87932	D	0	-6.9024	20.1392	0.98050	0.0:0.0:1.0:0.0	.	36;36	Q9NYF8;Q9NYF8-4	BCLF1_HUMAN;.	Y	36	ENSP00000435210:S36Y;ENSP00000435441:S36Y;ENSP00000436501:S36Y;ENSP00000431734:S36Y	ENSP00000435441:S36Y	S	-	2	0	BCLAF1	136641605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.159000	0.77483	2.765000	0.95021	0.557000	0.71058	TCT		0.318	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		T	136599912	G	T	136599912	3	4	631	1	0	0	0	0	1	0	0	0	1383	942	33	4	2695	4	BCLAF1	6	136599912	Missense_Mutation	SNP	G	TCGA-DZ-6134-01A-11D-1961-08	93324450	136599912	34515155	9	34366											
FZD1	8321	hgsc.bcm.edu	37	7	90894779	90894779	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr7:90894779G>A	ENST00000287934.2	+	1	997	c.584G>A	c.(583-585)cGc>cAc	p.R195H		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	195	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GAGCGCGCGCGCCAGGGCTGC	0.672																																																0													52	58	56					7																	90894779		2199	4299	6498	SO:0001583	missense	8321			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.584G>A	chr7.hg19:g.90894779G>A	ENSP00000287934:p.Arg195His		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	hg19	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936514	0.92458	.	.	ENSG00000157240	ENST00000287934	T	0.76839	-1.05	4.69	4.69	0.59074	Frizzled domain (5);	0.000000	0.64402	D	0.000003	D	0.90407	0.6997	H	0.94542	3.55	0.80722	D	1	D	0.65815	0.995	P	0.61132	0.884	D	0.93351	0.6718	10	0.87932	D	0	.	17.7914	0.88553	0.0:0.0:1.0:0.0	.	195	Q9UP38	FZD1_HUMAN	H	195	ENSP00000287934:R195H	ENSP00000287934:R195H	R	+	2	0	FZD1	90732715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.543000	0.73874	2.430000	0.82344	0.561000	0.74099	CGC		0.672	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		A	90894779	G	A	90894779	3	1	631	1	0	0	0	0	1	0	0	0	6130	1087	38	1	586	1	FZD1	7	90894779	Missense_Mutation	SNP	G	TCGA-DZ-6134-01A-11D-1961-08		90894779	68243884	10	34367											
PTCD1	26024	hgsc.bcm.edu	37	7	99022814	99022814	+	Silent	SNP	G	G	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr7:99022814G>A	ENST00000292478.4	-	6	1591	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.A496A|PTCD1_ENST00000555673.1_Silent_p.A496A	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	447					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TAGGGGGAACGGCCCCGGGGG	0.647																																																0													58	61	60					7																	99022814		2203	4300	6503	SO:0001819	synonymous_variant	100526740			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1341C>T	chr7.hg19:g.99022814G>A			Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	hg19	CCDS34691.1																																																																																				0.647	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		A	99022814	G	A	99022814	2	1	631	1	0	0	0	0	0	0	0	1	12732	1103	39	1		1	PTCD1	7	99022814	Silent	SNP	G	TCGA-DZ-6134-01A-11D-1961-08	8128035	99022814	60115849	11	34368											
SERPINE1	5054	hgsc.bcm.edu	37	7	100780346	100780346	+	Silent	SNP	G	G	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr7:100780346G>C	ENST00000223095.4	+	8	1309	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V	SERPINE1_ENST00000445463.2_Silent_p.V369V	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	384					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCCTCTTTGTGGTCCGGCACA	0.552																																																0													139	117	125					7																	100780346		2203	4300	6503	SO:0001819	synonymous_variant	5054			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1152G>C	chr7.hg19:g.100780346G>C			B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	hg19	CCDS5711.1																																																																																				0.552	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		C	100780346	G	C	100780346	2	2	631	1	0	0	0	0	0	0	0	1	14117	1335	47	4		4	SERPINE1	7	100780346	Silent	SNP	G	TCGA-DZ-6134-01A-11D-1961-08	1757532	100780346	58358317	12	34369											
HSDL2	84263	hgsc.bcm.edu	37	9	115181173	115181173	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr9:115181173A>G	ENST00000398805.3	+	6	760	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	HSDL2_ENST00000398803.1_Missense_Mutation_p.Y105C|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Missense_Mutation_p.Y58C|HSDL2_ENST00000539114.1_Intron	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	178						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATGTCTATGTATGTGCTTGGA	0.274																																																0													146	133	137					9																	115181173		1844	4082	5926	SO:0001583	missense	84263			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18572	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 13C, member 1"		"chromosome 9 open reading frame 99"	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.533A>G	chr9.hg19:g.115181173A>G	ENSP00000381785:p.Tyr178Cys		A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	hg19	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	A	4.417	0.077003	0.08485	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542	D;D;T	0.89810	-2.23;-2.57;2.17	5.54	4.61	0.57282	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.043003	0.85682	N	0.000000	T	0.66237	0.2769	N	0.00611	-1.325	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.67364	-0.5689	10	0.02654	T	1	.	14.288	0.66258	0.0732:0.0:0.9268:0.0	.	105;178	Q6YN16-2;Q6YN16	.;HSDL2_HUMAN	C	178;105;58	ENSP00000381785:Y178C;ENSP00000381783:Y105C;ENSP00000262542:Y58C	ENSP00000262542:Y58C	Y	+	2	0	HSDL2	114220994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.348000	0.79366	1.462000	0.47948	-0.321000	0.08615	TAT		0.274	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		G	115181173	A	G	115181173	3	3	631	1	0	0	0	0	1	0	0	0	7396	449	16	3	555	3	HSDL2	9	115181173	Missense_Mutation	SNP	A	TCGA-DZ-6134-01A-11D-1961-08		115181173	26032258	13	34370											
ALAD	210	hgsc.bcm.edu	37	9	116151742	116151742	+	Silent	SNP	G	G	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr9:116151742G>A	ENST00000409155.3	-	10	973	c.777C>T	c.(775-777)gaC>gaT	p.D259D	ALAD_ENST00000482001.1_5'Flank|ALAD_ENST00000277315.5_Silent_p.D242D	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	259					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CCCGCACGATGTCCAGGTAGG	0.567																																																0													116	110	112					9																	116151742		2203	4300	6503	SO:0001819	synonymous_variant	210			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"porphobilinogen synthase"	125270	"aminolevulinate, delta-, dehydratase"			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.777C>T	chr9.hg19:g.116151742G>A			A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Silent	SNP	ENST00000409155.3	hg19	CCDS6794.2																																																																																				0.567	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		A	116151742	G	A	116151742	2	1	631	1	0	0	0	0	0	0	0	1	483	1368	48	2		2	ALAD	9	116151742	Silent	SNP	G	TCGA-DZ-6134-01A-11D-1961-08	970569	116151742	25061689	14	34371											
CAMK1D	57118	hgsc.bcm.edu	37	10	12595265	12595265	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr10:12595265C>T	ENST00000378847.3	+	2	471	c.134C>T	c.(133-135)aCt>aTt	p.T45I	CAMK1D_ENST00000378845.1_Missense_Mutation_p.T45I|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GAGAAGGCAACTGGCAAGCTC	0.468																																																0													162	150	154					10																	12595265		2203	4300	6503	SO:0001583	missense	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.134C>T	chr10.hg19:g.12595265C>T	ENSP00000368124:p.Thr45Ile		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	hg19	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507699	0.44558	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.49139	0.79;0.79	5.14	4.23	0.50019	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055122	0.64402	D	0.000001	T	0.57888	0.2084	M	0.89785	3.06	0.45648	D	0.99857	B;B	0.19073	0.033;0.011	B;B	0.23716	0.048;0.047	T	0.62586	-0.6823	10	0.87932	D	0	-12.4567	13.7457	0.62874	0.0:0.6876:0.3124:0.0	.	45;45	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	I	45	ENSP00000368124:T45I;ENSP00000368122:T45I	ENSP00000368122:T45I	T	+	2	0	CAMK1D	12635271	1.000000	0.71417	0.981000	0.43875	0.946000	0.59487	3.132000	0.50523	1.127000	0.42034	0.561000	0.74099	ACT		0.468	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		T	12595265	C	T	12595265	3	4	631	1	0	0	0	0	1	0	0	0	2599	565	20	2	140	2	CAMK1D	10	12595265	Missense_Mutation	SNP	C	TCGA-DZ-6134-01A-11D-1961-08		12595265	122939482	15	34372											
SLC43A1	8501	hgsc.bcm.edu	37	11	57261478	57261478	+	Missense_Mutation	SNP	T	T	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr11:57261478T>A	ENST00000278426.3	-	8	1214	c.859A>T	c.(859-861)Aac>Tac	p.N287Y	SLC43A1_ENST00000528450.1_Missense_Mutation_p.N287Y|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCAGGAAGGTTTTCTGAGGTG	0.567											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													74	65	68					11																	57261478		2201	4296	6497	SO:0001583	missense	8501			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"Solute carriers"	9225	protein-coding gene	gene with protein product		603733	"prostate cancer overexpressed gene 1"	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.859A>T	chr11.hg19:g.57261478T>A	ENSP00000278426:p.Asn287Tyr	1021		Missense_Mutation	SNP	ENST00000278426.3	hg19	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	t	15.67	2.901506	0.52227	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000533066	T;T;T	0.58060	0.36;0.36;1.47	5.57	-2.09	0.07232	Major facilitator superfamily domain, general substrate transporter (1);	1.826000	0.01877	N	0.037616	T	0.36524	0.0970	N	0.14661	0.345	0.09310	N	1	P	0.48911	0.917	P	0.46419	0.516	T	0.21965	-1.0230	10	0.35671	T	0.21	0.3003	1.7106	0.02891	0.1305:0.2328:0.1338:0.5029	.	287	O75387	LAT3_HUMAN	Y	287;287;256	ENSP00000278426:N287Y;ENSP00000435673:N287Y;ENSP00000435647:N256Y	ENSP00000278426:N287Y	N	-	1	0	SLC43A1	57018054	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.234000	0.17930	-0.008000	0.14320	0.459000	0.35465	AAC		0.567	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		A	57261478	T	A	57261478	3	1	631	1	0	0	0	0	1	0	0	0	14638	1841	64	5	852	5	SLC43A1	11	57261478	Missense_Mutation	SNP	T	TCGA-DZ-6134-01A-11D-1961-08		57261478	77745038	16	34373											
USP35	57558	hgsc.bcm.edu	37	11	77921303	77921303	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr11:77921303C>T	ENST00000529308.1	+	10	2663	c.2402C>T	c.(2401-2403)cCg>cTg	p.P801L	USP35_ENST00000530267.1_Missense_Mutation_p.P369L|USP35_ENST00000526425.1_Missense_Mutation_p.P532L|USP35_ENST00000441408.2_Missense_Mutation_p.P387L|USP35_ENST00000530535.1_3'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	801	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGCCAAGGGCCGTGCTACCTC	0.622																																																0													86	98	94					11																	77921303		2167	4250	6417	SO:0001583	missense	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2402C>T	chr11.hg19:g.77921303C>T	ENSP00000431876:p.Pro801Leu			Missense_Mutation	SNP	ENST00000529308.1	hg19	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572013	0.86542	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.35	4.35	0.52113	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000019	D	0.96457	0.8844	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98113	1.0421	10	0.87932	D	0	-41.8622	17.0748	0.86583	0.0:1.0:0.0:0.0	.	801;387	Q9P2H5;E7EWV7	UBP35_HUMAN;.	L	369;801;387;532	ENSP00000435468:P369L;ENSP00000431876:P801L;ENSP00000400825:P387L;ENSP00000434942:P532L	ENSP00000400825:P387L	P	+	2	0	USP35	77598951	1.000000	0.71417	0.993000	0.49108	0.817000	0.46193	7.600000	0.82769	2.257000	0.74773	0.436000	0.28706	CCG		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		T	77921303	C	T	77921303	3	4	631	1	0	0	0	0	1	0	0	0	17071	652	23	1	2436	1	USP35	11	77921303	Missense_Mutation	SNP	C	TCGA-DZ-6134-01A-11D-1961-08	20659825	77921303	57085213	17	34374											
PCF11	51585	hgsc.bcm.edu	37	11	82877713	82877713	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr11:82877713A>G	ENST00000298281.4	+	5	2226	c.1774A>G	c.(1774-1776)Aag>Gag	p.K592E		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	592					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCAAAGTTCCAAGTCTGCCAA	0.368																																																0													71	71	71					11																	82877713		1781	3947	5728	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1774A>G	chr11.hg19:g.82877713A>G	ENSP00000298281:p.Lys592Glu		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926781	0.52759	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.49720	1.75;0.79;0.77	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000007	T	0.58293	0.2112	L	0.32530	0.975	0.49687	D	0.999816	D;D	0.69078	0.997;0.993	D;D	0.75020	0.985;0.971	T	0.54801	-0.8239	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	592;592	E9PQ01;O94913	.;PCF11_HUMAN	E	592	ENSP00000298281:K592E;ENSP00000434540:K592E;ENSP00000431567:K592E	.	K	+	1	0	PCF11	82555361	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.414000	0.73318	2.326000	0.78906	0.533000	0.62120	AAG		0.368	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		G	82877713	A	G	82877713	3	3	631	1	0	0	0	0	1	0	0	0	11575	131	5	3	1792	3	PCF11	11	82877713	Missense_Mutation	SNP	A	TCGA-DZ-6134-01A-11D-1961-08	4956410	82877713	52128803	18	34375											
ATF7	11016	hgsc.bcm.edu	37	12	53910964	53910964	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr12:53910964G>A	ENST00000548446.2	-	12	1554	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L	RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000456903.4_Missense_Mutation_p.S470L|ATF7_ENST00000420353.2_Missense_Mutation_p.S470L|RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000415113.1_Missense_Mutation_p.S449L|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000328463.7_Missense_Mutation_p.S481L			P17544	ATF7_HUMAN	activating transcription factor 7	481	Essential for binding adenovirus 2 E1A.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GATTACATGCGATTGTATCGG	0.587																																																0													112	109	110					12																	53910964		2075	4216	6291	SO:0001583	missense	11016			X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1442C>T	chr12.hg19:g.53910964G>A	ENSP00000449938:p.Ser481Leu		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	hg19		.	.	.	.	.	.	.	.	.	.	G	24.4	4.522447	0.85600	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.56776	0.47;0.47;0.44;0.49;0.49	4.47	4.47	0.54385	.	0.132552	0.52532	D	0.000064	T	0.43233	0.1238	L	0.53249	1.67	0.54753	D	0.999981	P;P;B	0.46327	0.876;0.804;0.0	B;B;B	0.28553	0.091;0.042;0.001	T	0.58797	-0.7573	10	0.87932	D	0	-16.9898	16.5074	0.84276	0.0:0.0:1.0:0.0	.	449;470;481	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	L	481;481;294;449;470;470	ENSP00000449938:S481L;ENSP00000329212:S481L;ENSP00000404880:S449L;ENSP00000399465:S470L;ENSP00000387406:S470L	ENSP00000304187:S294L	S	-	2	0	ATF7	52197231	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.990000	0.76225	2.513000	0.84729	0.456000	0.33151	TCG		0.587	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		A	53910964	G	A	53910964	3	1	631	1	0	0	0	0	1	0	0	0	1086	1059	37	1	46	1	ATF7	12	53910964	Missense_Mutation	SNP	G	TCGA-DZ-6134-01A-11D-1961-08		53910964	79940931	19	34376											
SMARCC2	6601	hgsc.bcm.edu	37	12	56558339	56558339	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr12:56558339T>C	ENST00000267064.4	-	27	3402	c.3316A>G	c.(3316-3318)Atc>Gtc	p.I1106V	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_Missense_Mutation_p.I1137V|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1106	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTAATACTGATGGAGTCAGCT	0.587																																																0													103	89	94					12																	56558339		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3316A>G	chr12.hg19:g.56558339T>C	ENSP00000267064:p.Ile1106Val		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	hg19	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.300338	0.23650	.	.	ENSG00000139613	ENST00000550164;ENST00000267064	T;T	0.44881	0.91;0.94	5.28	3.99	0.46301	.	0.593150	0.16689	N	0.203617	T	0.20577	0.0495	N	0.08118	0	0.25483	N	0.987717	B	0.02656	0.0	B	0.01281	0.0	T	0.19811	-1.0294	9	.	.	.	-5.712	7.8812	0.29623	0.0:0.1805:0.0:0.8195	.	1106	Q8TAQ2	SMRC2_HUMAN	V	1137;1106	ENSP00000449396:I1137V;ENSP00000267064:I1106V	.	I	-	1	0	SMARCC2	54844606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.211000	0.32382	0.832000	0.34804	0.460000	0.39030	ATC		0.587	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			C	56558339	T	C	56558339	3	2	631	1	0	0	0	0	1	0	0	0	14782	1464	51	3	336	3	SMARCC2	12	56558339	Missense_Mutation	SNP	T	TCGA-DZ-6134-01A-11D-1961-08	2647375	56558339	77293556	20	34377											
BTBD6	90135	hgsc.bcm.edu	37	14	105716270	105716270	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr14:105716270C>T	ENST00000392554.3	+	4	1016	c.719C>T	c.(718-720)gCc>gTc	p.A240V	BRF1_ENST00000546474.1_Intron|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000463376.2_Missense_Mutation_p.A165V|BRF1_ENST00000379932.4_5'Flank|BTBD6_ENST00000536364.1_Missense_Mutation_p.A240V|BRF1_ENST00000551787.1_5'Flank|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000392557.4_5'Flank|BTBD6_ENST00000327471.3_Missense_Mutation_p.A165V|BRF1_ENST00000446501.2_5'Flank			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	240						cytoplasm (GO:0005737)				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		ACTCGGGAGGCCCTCAACACC	0.617																																																0													30	27	28					14																	105716270		2201	4298	6499	SO:0001583	missense	90135			AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"BTB/POZ domain containing"	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.719C>T	chr14.hg19:g.105716270C>T	ENSP00000376337:p.Ala240Val		Q8IVQ7|Q9BR94	Missense_Mutation	SNP	ENST00000392554.3	hg19	CCDS10002.2	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920172	0.52653	.	.	ENSG00000184887	ENST00000536364;ENST00000537513;ENST00000392554;ENST00000463376;ENST00000327471	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.07	5.07	0.68467	BTB/Kelch-associated (2);	0.118294	0.64402	D	0.000020	T	0.66218	0.2767	L	0.39898	1.24	0.48511	D	0.999668	B	0.29341	0.242	B	0.39935	0.314	T	0.69011	-0.5258	10	0.87932	D	0	-31.8506	15.9457	0.79792	0.0:1.0:0.0:0.0	.	240	Q96KE9	BTBD6_HUMAN	V	240;240;240;165;165	ENSP00000443091:A240V;ENSP00000446223:A240V;ENSP00000376337:A240V;ENSP00000418150:A165V;ENSP00000329361:A165V	ENSP00000329361:A165V	A	+	2	0	BTBD6	104787315	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.655000	0.83696	2.331000	0.79229	0.563000	0.77884	GCC		0.617	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4			T	105716270	C	T	105716270	3	4	631	1	0	0	0	0	1	0	0	0	1547	739	26	2	733	2	BTBD6	14	105716270	Missense_Mutation	SNP	C	TCGA-DZ-6134-01A-11D-1961-08		105716270	1633270	21	34378											
FAM86A	196483	hgsc.bcm.edu	37	16	5140457	5140457	+	Missense_Mutation	SNP	T	T	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr16:5140457T>A	ENST00000427587.4	-	5	520	c.452A>T	c.(451-453)gAg>gTg	p.E151V	FAM86A_ENST00000458008.4_Missense_Mutation_p.E117V|FAM86A_ENST00000587133.1_Missense_Mutation_p.E90V	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	151						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGCCGGGTTCTCGATGGCCCA	0.642																																																0													86	84	85					16																	5140457		2197	4300	6497	SO:0001583	missense	196483			BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.452A>T	chr16.hg19:g.5140457T>A	ENSP00000398502:p.Glu151Val		D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	hg19	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	t	17.73	3.461895	0.63513	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.20200	2.09;2.09	5.02	5.02	0.67125	.	0.188239	0.45867	D	0.000338	T	0.21761	0.0524	N	0.26042	0.785	0.44337	D	0.997227	P;P	0.40731	0.682;0.728	P;P	0.46850	0.522;0.529	T	0.02042	-1.1224	10	0.51188	T	0.08	.	12.2508	0.54597	0.0:0.0:0.0:1.0	.	117;151	Q96G04-2;Q96G04	.;FA86A_HUMAN	V	117;151	ENSP00000389710:E117V;ENSP00000398502:E151V	ENSP00000398502:E151V	E	-	2	0	FAM86A	5080458	0.999000	0.42202	0.910000	0.35882	0.241000	0.25554	6.872000	0.75536	2.117000	0.64856	0.370000	0.22315	GAG		0.642	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		A	5140457	T	A	5140457	3	1	631	1	0	0	0	0	1	0	0	0	5645	1551	54	5	556	5	FAM86A	16	5140457	Missense_Mutation	SNP	T	TCGA-DZ-6134-01A-11D-1961-08		5140457	85214296	22	34379											
TPPP3	51673	hgsc.bcm.edu	37	16	67424233	67424233	+	Silent	SNP	C	C	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr16:67424233C>G	ENST00000564104.1	-	3	1216	c.375G>C	c.(373-375)ctG>ctC	p.L125L	TPPP3_ENST00000290942.5_Silent_p.L125L|TPPP3_ENST00000393957.2_Silent_p.L125L|TPPP3_ENST00000562206.1_Silent_p.L125L|RNU1-123P_ENST00000458950.1_RNA			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	125					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TGGTGTCCGTCAGCCGGTCTA	0.617																																																0													129	119	122					16																	67424233		2198	4300	6498	SO:0001819	synonymous_variant	51673			BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.375G>C	chr16.hg19:g.67424233C>G			Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	hg19	CCDS10835.1																																																																																				0.617	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		G	67424233	C	G	67424233	2	3	631	1	0	0	0	0	0	0	0	1	16420	813	29	4		4	TPPP3	16	67424233	Silent	SNP	C	TCGA-DZ-6134-01A-11D-1961-08	62283776	67424233	22930520	23	34380											
MYH2	4620	hgsc.bcm.edu	37	17	10426831	10426831	+	Silent	SNP	G	G	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr17:10426831G>A	ENST00000245503.5	-	37	5838	c.5454C>T	c.(5452-5454)atC>atT	p.I1818I	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I1818I|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1818					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						CCAGTTTCTGGATCTGCTTCT	0.507																																																0													97	103	101					17																	10426831		2203	4300	6503	SO:0001819	synonymous_variant	4620				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.5454C>T	chr17.hg19:g.10426831G>A			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	hg19	CCDS11156.1																																																																																				0.507	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		A	10426831	G	A	10426831	2	1	631	1	0	0	0	0	0	0	0	1	10037	1164	41	2		2	MYH2	17	10426831	Silent	SNP	G	TCGA-DZ-6134-01A-11D-1961-08		10426831	70768379	24	34381											
RDM1	201299	hgsc.bcm.edu	37	17	34257138	34257138	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr17:34257138G>A	ENST00000293273.6	-	2	263	c.218C>T	c.(217-219)gCc>gTc	p.A73V	RDM1_ENST00000591402.1_Missense_Mutation_p.A50V|RDM1_ENST00000425909.3_Missense_Mutation_p.A73V|RDM1_ENST00000394527.1_Missense_Mutation_p.A50V|RDM1_ENST00000394528.3_Missense_Mutation_p.A73V|RDM1_ENST00000431884.2_Missense_Mutation_p.A73V|RDM1_ENST00000419453.2_Missense_Mutation_p.A50V|RDM1_ENST00000430160.2_Missense_Mutation_p.A50V|RDM1_ENST00000394529.3_Missense_Mutation_p.A50V	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	73	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCTCTGTGGGCAGCCCTTGC	0.493								Other identified genes with known or suspected DNA repair function																																								0													115	125	122					17																	34257138		2203	4300	6503	SO:0001583	missense	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"RNA binding motif (RRM) containing"	19950	protein-coding gene	gene with protein product		612896	"RAD52 homolog B (S. cerevisiae)", "RAD52 motif 1"	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.218C>T	chr17.hg19:g.34257138G>A	ENSP00000293273:p.Ala73Val		A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	ENST00000293273.6	hg19	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807688	0.50421	.	.	ENSG00000187456	ENST00000293273;ENST00000394529;ENST00000431884;ENST00000425909;ENST00000436836;ENST00000430160;ENST00000394528;ENST00000394527	T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	3.78	3.78	0.43462	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.134512	0.49916	D	0.000140	T	0.52108	0.1714	M	0.79475	2.455	0.35240	D	0.777732	D;D;P;P;P;D;D;D;P	0.54397	0.957;0.957;0.946;0.859;0.946;0.957;0.957;0.966;0.946	P;P;B;B;P;P;P;P;P	0.61874	0.751;0.491;0.41;0.41;0.636;0.491;0.545;0.895;0.636	T	0.67090	-0.5758	10	0.54805	T	0.06	-6.8607	13.5182	0.61553	0.0:0.0:1.0:0.0	.	50;50;73;73;50;50;73;73;50	B4DZ74;Q8NG50-4;Q8NG50-5;Q8NG50-10;Q8NG50-2;Q8NG50-11;A8MY68;Q8NG50;Q8NG50-6	.;.;.;.;.;.;.;RDM1_HUMAN;.	V	73;50;73;73;73;50;73;50	ENSP00000293273:A73V;ENSP00000378037:A50V;ENSP00000391290:A73V;ENSP00000393620:A73V;ENSP00000397431:A73V;ENSP00000413421:A50V;ENSP00000378036:A73V;ENSP00000378035:A50V	ENSP00000293273:A73V	A	-	2	0	RDM1	31281251	1.000000	0.71417	0.014000	0.15608	0.101000	0.19017	4.843000	0.62838	2.141000	0.66446	0.655000	0.94253	GCC		0.493	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		A	34257138	G	A	34257138	3	1	631	1	0	0	0	0	1	0	0	0	13203	1203	42	2	704	2	RDM1	17	34257138	Missense_Mutation	SNP	G	TCGA-DZ-6134-01A-11D-1961-08	23830307	34257138	46938072	25	34382											
MLX	6945	hgsc.bcm.edu	37	17	40720856	40720856	+	Splice_Site	SNP	T	T	C			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr17:40720856T>C	ENST00000246912.4	+	4	386	c.333T>C	c.(331-333)gaT>gaC	p.D111D	MLX_ENST00000346833.4_Splice_Site_p.D27D|MLX_ENST00000435881.2_Splice_Site_p.D57D	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	111					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGAGCGTAGATGATGAGGACA	0.607																																					GBM(121;657 1601 4665 24731 34640)											0													30	26	27					17																	40720856		2203	4300	6503	SO:0001630	splice_region_variant	6945			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	11645	protein-coding gene	gene with protein product		602976	"transcription factor-like 4", "MAX-like protein X"	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.332-1T>C	chr17.hg19:g.40720856T>C			A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Silent	SNP	ENST00000246912.4	hg19	CCDS11430.1																																																																																				0.607	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607	Silent	C	40720856	T	C	40720856	5	2	631	1	0	0	0	0	0	0	1	0	9637	1478	51	3	347	3	MLX	17	40720856	Splice_Site	SNP	T	TCGA-DZ-6134-01A-11D-1961-08	6463718	40720856	40474354	26	34383											
NR2C2AP	126382	hgsc.bcm.edu	37	19	19313644	19313645	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr19:19313644_19313645insT	ENST00000331552.7	-	2	447_448	c.84_85insA	c.(82-87)aaacatfs	p.H29fs	NR2C2AP_ENST00000420605.3_Frame_Shift_Ins_p.H29fs|NR2C2AP_ENST00000544883.1_Frame_Shift_Ins_p.H29fs|NR2C2AP_ENST00000538165.2_Frame_Shift_Ins_p.H29fs	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	29					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			TCGAAAAGATGTTTTTTTCCAA	0.54																																																0																																										SO:0001589	frameshift_variant	126382			AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"TR4 orphan receptor associated protein TRA16"	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.85dupA	chr19.hg19:g.19313651_19313651dupT	ENSP00000332823:p.His29fs		A6NGP7|B4DW92	Frame_Shift_Ins	INS	ENST00000331552.7	hg19	CCDS32967.1																																																																																				0.54	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402936.4	NM_176880		T	19313645	-	T	19313644	7	5	631	1	0	1	1	0	0	0	0	0	10626	1377	48	0	350	0	NR2C2AP	19	19313644	Frame_Shift_Ins	INS	-	TCGA-DZ-6134-01A-11D-1961-08		19313644	39815339	27	34384											
DHDH	27294	hgsc.bcm.edu	37	19	49447704	49447704	+	Missense_Mutation	SNP	T	T	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr19:49447704T>G	ENST00000221403.2	+	6	875	c.835T>G	c.(835-837)Ttt>Gtt	p.F279V	DHDH_ENST00000522614.1_Intron|DHDH_ENST00000523250.1_Missense_Mutation_p.F140V	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	279					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGACTGCAATTTTGACAACGG	0.622																																																0													65	63	63					19																	49447704		2203	4300	6503	SO:0001583	missense	27294			AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.835T>G	chr19.hg19:g.49447704T>G	ENSP00000221403:p.Phe279Val			Missense_Mutation	SNP	ENST00000221403.2	hg19	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453658	0.63290	.	.	ENSG00000104808	ENST00000221403;ENST00000523250	T;T	0.21361	2.01;2.01	4.89	3.87	0.44632	.	0.210406	0.49916	D	0.000136	T	0.23330	0.0564	M	0.77616	2.38	0.80722	D	1	B	0.27117	0.168	B	0.28638	0.092	T	0.05903	-1.0857	10	0.33940	T	0.23	-6.6788	6.733	0.23393	0.0:0.1029:0.0:0.8971	.	279	Q9UQ10	DHDH_HUMAN	V	279;140	ENSP00000221403:F279V;ENSP00000428935:F140V	ENSP00000221403:F279V	F	+	1	0	DHDH	54139516	1.000000	0.71417	0.040000	0.18447	0.014000	0.08584	4.583000	0.60964	2.183000	0.69458	0.402000	0.26972	TTT		0.622	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		G	49447704	T	G	49447704	3	3	631	1	0	0	0	0	1	0	0	0	4481	1841	64	5	857	5	DHDH	19	49447704	Missense_Mutation	SNP	T	TCGA-DZ-6134-01A-11D-1961-08	30134060	49447704	9681279	28	34385			1	56		2	2	25	T		2.480849e-05
DHDH	27294	hgsc.bcm.edu	37	19	49447728	49447728	+	Missense_Mutation	SNP	T	T	A			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr19:49447728T>A	ENST00000221403.2	+	6	899	c.859T>A	c.(859-861)Tat>Aat	p.Y287N	DHDH_ENST00000522614.1_Intron|DHDH_ENST00000523250.1_Missense_Mutation_p.Y148N	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	287					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGGCATGAGTTATGAGGCCAA	0.627																																																0													70	67	68					19																	49447728		2203	4300	6503	SO:0001583	missense	27294			AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.859T>A	chr19.hg19:g.49447728T>A	ENSP00000221403:p.Tyr287Asn			Missense_Mutation	SNP	ENST00000221403.2	hg19	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	T	34	5.369860	0.95900	.	.	ENSG00000104808	ENST00000221403;ENST00000523250	T;T	0.24151	1.87;1.87	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.63301	-0.6668	10	0.59425	D	0.04	-13.1857	11.3361	0.49505	0.0:0.0:0.0:1.0	.	287	Q9UQ10	DHDH_HUMAN	N	287;148	ENSP00000221403:Y287N;ENSP00000428935:Y148N	ENSP00000221403:Y287N	Y	+	1	0	DHDH	54139540	0.999000	0.42202	0.059000	0.19551	0.914000	0.54420	6.248000	0.72418	2.252000	0.74401	0.402000	0.26972	TAT		0.627	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		A	49447728	T	A	49447728	3	1	631	1	0	0	0	0	1	0	0	0	4481	1754	61	5	881	5	DHDH	19	49447728	Missense_Mutation	SNP	T	TCGA-DZ-6134-01A-11D-1961-08	24	49447728	9681255	29	34386			1	56		2	2	25	T		2.480849e-05
C20orf141	128653	hgsc.bcm.edu	37	20	2796280	2796280	+	Silent	SNP	G	G	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr20:2796280G>T	ENST00000380589.4	+	2	531	c.357G>T	c.(355-357)ctG>ctT	p.L119L	TMEM239_ENST00000554164.1_Intron|TMEM239_ENST00000361033.1_5'Flank|TMEM239_ENST00000380585.1_5'Flank|TMEM239_ENST00000380593.4_Intron|C20orf141_ENST00000603872.1_Silent_p.L119L	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	119	Leu-rich.					integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						CTCTACTCCTGCAAATGGGTA	0.627																																																0													57	55	56					20																	2796280		2203	4300	6503	SO:0001819	synonymous_variant	128653				CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.357G>T	chr20.hg19:g.2796280G>T				Silent	SNP	ENST00000380589.4	hg19	CCDS13034.1																																																																																				0.627	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077644.2	NM_080739		T	2796280	G	T	2796280	2	4	631	1	0	0	0	0	0	0	0	1	2091	1306	46	4		4	C20orf141	20	2796280	Silent	SNP	G	TCGA-DZ-6134-01A-11D-1961-08		2796280	60229240	30	34387											
NINL	22981	hgsc.bcm.edu	37	20	25469911	25469911	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr20:25469911G>T	ENST00000278886.6	-	13	1719	c.1646C>A	c.(1645-1647)gCa>gAa	p.A549E	NINL_ENST00000422516.1_Missense_Mutation_p.A549E	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	549					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTTCAGGACTGCTGCGAACCG	0.617																																																0													170	155	160					20																	25469911		2203	4300	6503	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1646C>A	chr20.hg19:g.25469911G>T	ENSP00000278886:p.Ala549Glu		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	hg19	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.724364	0.00694	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.27402	1.91;1.67	4.58	0.0634	0.14348	.	0.597531	0.16327	N	0.219312	T	0.10508	0.0257	N	0.14661	0.345	0.09310	N	1	B;B	0.16603	0.018;0.012	B;B	0.11329	0.005;0.006	T	0.27673	-1.0067	10	0.02654	T	1	-1.509	0.7711	0.01024	0.2336:0.1117:0.2575:0.3972	.	549;549	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	E	549	ENSP00000278886:A549E;ENSP00000410431:A549E	ENSP00000278886:A549E	A	-	2	0	NINL	25417911	0.001000	0.12720	0.000000	0.03702	0.299000	0.27559	0.333000	0.19768	-0.118000	0.11851	0.651000	0.88453	GCA		0.617	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		T	25469911	G	T	25469911	3	4	631	1	0	0	0	0	1	0	0	0	10422	1319	46	4	2550	4	NINL	20	25469911	Missense_Mutation	SNP	G	TCGA-DZ-6134-01A-11D-1961-08	22673631	25469911	37555609	31	34388											
TP53TG5	27296	hgsc.bcm.edu	37	20	44005872	44005872	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6134-01A-11D-1961-08	TCGA-DZ-6134-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	230ddafa-8d9f-4ddc-b864-ba8eb42a31ab	8e8a3cd2-c9ae-4be6-8682-214badaa00a5	g.chr20:44005872C>G	ENST00000372726.3	-	3	390	c.234G>C	c.(232-234)aaG>aaC	p.K78N	TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.K62N|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	78					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TGCGGAGAATCTTTGGAACAC	0.512																																																0													168	155	160					20																	44005872		2203	4300	6503	SO:0001583	missense	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.234G>C	chr20.hg19:g.44005872C>G	ENSP00000361811:p.Lys78Asn			Missense_Mutation	SNP	ENST00000372726.3	hg19	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593647	0.46214	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.18338	2.22;2.22	5.43	5.43	0.79202	.	1.020720	0.07785	N	0.953949	T	0.25195	0.0612	L	0.39898	1.24	0.09310	N	1	P	0.49090	0.919	P	0.48704	0.587	T	0.20438	-1.0275	10	0.66056	D	0.02	-0.733	12.8311	0.57746	0.0:0.8361:0.1639:0.0	.	78	Q9Y2B4	T53G5_HUMAN	N	78;62	ENSP00000361811:K78N;ENSP00000438374:K62N	ENSP00000361811:K78N	K	-	3	2	TP53TG5	43439286	0.039000	0.19947	0.020000	0.16555	0.437000	0.31866	2.319000	0.43788	2.720000	0.93068	0.591000	0.81541	AAG		0.512	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		G	44005872	C	G	44005872	3	3	631	1	0	0	0	0	1	0	0	0	16396	912	32	4	650	4	TP53TG5	20	44005872	Missense_Mutation	SNP	C	TCGA-DZ-6134-01A-11D-1961-08	18535961	44005872	19019648	32	34389											
MCOLN3	55283	hgsc.bcm.edu	37	1	85491894	85491894	+	Silent	SNP	G	G	C			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr1:85491894G>C	ENST00000370589.2	-	8	958	c.906C>G	c.(904-906)ctC>ctG	p.L302L	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Silent_p.L302L|MCOLN3_ENST00000474447.1_5'Flank|MCOLN3_ENST00000341115.4_Silent_p.L246L	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	302					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATCTAATGCAGAGGATTAATG	0.398																																																0													133	121	125					1																	85491894		2203	4300	6503	SO:0001819	synonymous_variant	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.906C>G	chr1.hg19:g.85491894G>C			Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	ENST00000370589.2	hg19	CCDS701.1																																																																																				0.398	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		C	85491894	G	C	85491894	2	2	632	1	0	0	0	0	0	0	0	1	9399	929	33	4		4	MCOLN3	1	85491894	Silent	SNP	G	TCGA-DZ-6135-01A-11D-1961-08		85491894	163758727	1	34390											
ARHGAP30	257106	hgsc.bcm.edu	37	1	161029441	161029441	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr1:161029441G>T	ENST00000368013.3	-	2	483	c.163C>A	c.(163-165)Cgc>Agc	p.R55S	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R55S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	55	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTGAGAGGCGGTAGATCCCA	0.562																																																0													106	94	98					1																	161029441		2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.163C>A	chr1.hg19:g.161029441G>T	ENSP00000356992:p.Arg55Ser		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	hg19	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106697	0.77096	.	.	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.52295	0.67;0.67	4.91	4.91	0.64330	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82063	-0.0643	10	0.87932	D	0	.	11.1138	0.48249	0.0:0.0:0.8152:0.1848	.	55;55	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	S	55	ENSP00000356995:R55S;ENSP00000356992:R55S	ENSP00000356992:R55S	R	-	1	0	ARHGAP30	159296065	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.839000	0.39220	2.419000	0.82065	0.484000	0.47621	CGC		0.562	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		T	161029441	G	T	161029441	3	4	632	1	0	0	0	0	1	0	0	0	879	1116	39	4	3186	4	ARHGAP30	1	161029441	Missense_Mutation	SNP	G	TCGA-DZ-6135-01A-11D-1961-08	75537547	161029441	88221180	2	34391											
STON1	11037	hgsc.bcm.edu	37	2	48818889	48818889	+	Silent	SNP	C	C	A			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr2:48818889C>A	ENST00000406226.1	+	4	2223	c.2028C>A	c.(2026-2028)tcC>tcA	p.S676S	STON1-GTF2A1L_ENST00000394751.3_Silent_p.S676S|STON1_ENST00000309835.3_Silent_p.S676S|STON1-GTF2A1L_ENST00000309827.2_Silent_p.S676S|STON1-GTF2A1L_ENST00000402114.2_Silent_p.S676S|STON1-GTF2A1L_ENST00000405008.1_Silent_p.S676S|STON1_ENST00000404752.1_Silent_p.S676S|STON1-GTF2A1L_ENST00000394754.1_Silent_p.S676S	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	676	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCAGTTTTCCGTGCCTGACA	0.483																																																0													155	146	149					2																	48818889		2203	4300	6503	SO:0001819	synonymous_variant	11037			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.2028C>A	chr2.hg19:g.48818889C>A			A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	hg19	CCDS1841.1																																																																																				0.483	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		A	48818889	C	A	48818889	2	1	632	1	0	0	0	0	0	0	0	1	15321	639	23	4		4	STON1	2	48818889	Silent	SNP	C	TCGA-DZ-6135-01A-11D-1961-08		48818889	194380484	3	34392											
SPRED2	200734	hgsc.bcm.edu	37	2	65561771	65561771	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr2:65561771delC	ENST00000356388.4	-	3	530	c.341delG	c.(340-342)ggafs	p.G114fs	SPRED2_ENST00000443619.2_Frame_Shift_Del_p.G111fs|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	114	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TTTCCTTACTCCCCTGTCAAA	0.413																																																0													157	146	150					2																	65561771		2203	4300	6503	SO:0001589	frameshift_variant	200734			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.341delG	chr2.hg19:g.65561771delC	ENSP00000348753:p.Gly114fs		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Frame_Shift_Del	DEL	ENST00000356388.4	hg19	CCDS33211.1																																																																																				0.413	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			-	65561771	C	-	65561771	7	5	632	1	0	1	0	1	0	0	0	0	15098	855	30	0	931	0	SPRED2	2	65561771	Frame_Shift_Del	DEL	C	TCGA-DZ-6135-01A-11D-1961-08	16742882	65561771	177637602	4	34393											
SULT1C4	27233	hgsc.bcm.edu	37	2	108994906	108994906	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr2:108994906T>C	ENST00000272452.2	+	1	439	c.113T>C	c.(112-114)aTc>aCc	p.I38T	SULT1C4_ENST00000409309.3_Missense_Mutation_p.I38T	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	38					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TGGGATAAGATCTGGAACTTC	0.473																																																0													171	176	174					2																	108994906		2203	4300	6503	SO:0001583	missense	27233			AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.113T>C	chr2.hg19:g.108994906T>C	ENSP00000272452:p.Ile38Thr		Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	hg19	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318519	0.81469	.	.	ENSG00000198075	ENST00000272452;ENST00000409309	T;T	0.01918	4.56;4.56	5.06	5.06	0.68205	.	0.127728	0.35555	N	0.003129	T	0.04452	0.0122	N	0.08118	0	0.31369	N	0.680401	P;D;D	0.63880	0.954;0.993;0.991	P;D;D	0.68765	0.476;0.96;0.918	T	0.35773	-0.9775	10	0.66056	D	0.02	.	14.1553	0.65413	0.0:0.0:0.0:1.0	.	38;38;38	Q08AS5;O75897;Q6PD90	.;ST1C4_HUMAN;.	T	38	ENSP00000272452:I38T;ENSP00000387225:I38T	ENSP00000272452:I38T	I	+	2	0	SULT1C4	108361338	0.999000	0.42202	1.000000	0.80357	0.870000	0.49936	4.416000	0.59815	2.125000	0.65367	0.496000	0.49642	ATC		0.473	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		C	108994906	T	C	108994906	3	2	632	1	0	0	0	0	1	0	0	0	15384	1435	50	3	115	3	SULT1C4	2	108994906	Missense_Mutation	SNP	T	TCGA-DZ-6135-01A-11D-1961-08	43433135	108994906	134204467	5	34394											
LRP2	4036	hgsc.bcm.edu	37	2	170145584	170145584	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr2:170145584delA	ENST00000263816.3	-	9	1279	c.994delT	c.(994-996)tgtfs	p.C332fs	LRP2_ENST00000443831.1_Frame_Shift_Del_p.C332fs	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	332	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CCTGGGGGACAAAAACACGCT	0.483																																																0													107	105	106					2																	170145584		2203	4300	6503	SO:0001589	frameshift_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.994delT	chr2.hg19:g.170145584delA	ENSP00000263816:p.Cys332fs		O00711|Q16215	Frame_Shift_Del	DEL	ENST00000263816.3	hg19	CCDS2232.1																																																																																				0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		-	170145584	A	-	170145584	7	5	632	1	0	1	0	1	0	0	0	0	8958	130	5	0	13257	0	LRP2	2	170145584	Frame_Shift_Del	DEL	A	TCGA-DZ-6135-01A-11D-1961-08	61150678	170145584	73053789	6	34395											
ROBO1	6091	hgsc.bcm.edu	37	3	78683096	78683096	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr3:78683096C>A	ENST00000464233.1	-	24	3583	c.3470G>T	c.(3469-3471)aGt>aTt	p.S1157I	ROBO1_ENST00000467549.1_Missense_Mutation_p.S1057I|ROBO1_ENST00000436010.2_Missense_Mutation_p.S1118I|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1112I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGATGTACTACTGCCCCGGTC	0.423																																																0													224	211	215					3																	78683096		1928	4130	6058	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3470G>T	chr3.hg19:g.78683096C>A	ENSP00000420321:p.Ser1157Ile		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	hg19	CCDS54611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.301088|4.301088	0.81136|0.81136	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414|ENST00000472273	D;D;D;D|.	0.91464|.	-2.85;-2.85;-2.85;-2.85|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74756|0.74756	0.3758|0.3758	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;B;D;P;P|.	0.76494|.	0.997;0.27;0.999;0.754;0.866|.	D;B;D;B;B|.	0.83275|.	0.994;0.082;0.996;0.293;0.376|.	T|T	0.70912|0.70912	-0.4743|-0.4743	9|5	.|.	.|.	.|.	.|.	20.1001|20.1001	0.97870|0.97870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1121;1157;1112;1057;1118|.	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4|.	.;ROBO1_HUMAN;.;.;.|.	I|L	1118;1112;1157;1112;1057;1161|84	ENSP00000406043:S1118I;ENSP00000420321:S1157I;ENSP00000420637:S1112I;ENSP00000417992:S1057I|.	.|.	S|V	-|-	2|1	0|0	ROBO1|ROBO1	78765786|78765786	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.595000|0.595000	0.36748|0.36748	7.466000|7.466000	0.80914|0.80914	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.423	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		A	78683096	C	A	78683096	3	1	632	1	0	0	0	0	1	0	0	0	13519	565	20	4	1517	4	ROBO1	3	78683096	Missense_Mutation	SNP	C	TCGA-DZ-6135-01A-11D-1961-08		78683096	119339334	7	34396											
KIAA2018	205717	hgsc.bcm.edu	37	3	113376148	113376148	+	Missense_Mutation	SNP	T	T	G			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr3:113376148T>G	ENST00000478658.1	-	5	4398	c.4381A>C	c.(4381-4383)Aag>Cag	p.K1461Q	KIAA2018_ENST00000316407.4_Missense_Mutation_p.K1461Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1461	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						tgctgctgctTTATGTAGAGA	0.498																																																0													66	71	69					3																	113376148		2179	4278	6457	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4381A>C	chr3.hg19:g.113376148T>G	ENSP00000420721:p.Lys1461Gln		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	hg19	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802014	0.50315	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.31247	1.5;1.5	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	L	0.32530	0.975	0.49213	D	0.999766	D	0.71674	0.998	D	0.78314	0.991	T	0.41822	-0.9487	10	0.62326	D	0.03	-15.6625	15.5299	0.75952	0.0:0.0:0.0:1.0	.	1461	Q68DE3	K2018_HUMAN	Q	1461	ENSP00000320794:K1461Q;ENSP00000420721:K1461Q	ENSP00000320794:K1461Q	K	-	1	0	KIAA2018	114858838	1.000000	0.71417	0.987000	0.45799	0.600000	0.36913	7.182000	0.77689	2.254000	0.74563	0.459000	0.35465	AAG		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		G	113376148	T	G	113376148	3	3	632	1	0	0	0	0	1	0	0	0	8270	1850	64	5	2360	5	KIAA2018	3	113376148	Missense_Mutation	SNP	T	TCGA-DZ-6135-01A-11D-1961-08	34693052	113376148	84646282	8	34397											
ADCY5	111	hgsc.bcm.edu	37	3	123047579	123047579	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr3:123047579C>A	ENST00000462833.1	-	6	2929	c.1717G>T	c.(1717-1719)Ggt>Tgt	p.G573C	ADCY5_ENST00000491190.1_Missense_Mutation_p.G206C|ADCY5_ENST00000309879.5_Missense_Mutation_p.G223C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	573	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCAAGGACACCGCAGTGTACT	0.597											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													179	140	153					3																	123047579		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1717G>T	chr3.hg19:g.123047579C>A	ENSP00000419361:p.Gly573Cys	1523	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	hg19	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403693	0.96051	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.38	5.38	0.77491	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99063	1.0831	10	0.87932	D	0	.	19.1549	0.93506	0.0:1.0:0.0:0.0	.	573;206	O95622;B3KWA8	ADCY5_HUMAN;.	C	573;206;223;132	ENSP00000419361:G573C;ENSP00000418537:G206C;ENSP00000308685:G223C;ENSP00000420082:G132C	ENSP00000308685:G223C	G	-	1	0	ADCY5	124530269	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.529000	0.85273	0.655000	0.94253	GGT		0.597	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		A	123047579	C	A	123047579	3	1	632	1	0	0	0	0	1	0	0	0	297	652	23	4	2132	4	ADCY5	3	123047579	Missense_Mutation	SNP	C	TCGA-DZ-6135-01A-11D-1961-08	9671431	123047579	74974851	9	34398											
SSR3	6747	hgsc.bcm.edu	37	3	156266708	156266708	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr3:156266708C>A	ENST00000265044.2	-	3	439	c.345G>T	c.(343-345)aaG>aaT	p.K115N	SSR3_ENST00000496050.1_Missense_Mutation_p.K63N|SSR3_ENST00000476217.1_Missense_Mutation_p.K115N|SSR3_ENST00000463503.1_Missense_Mutation_p.K63N|SSR3_ENST00000467789.1_Missense_Mutation_p.K115N|SSR3_ENST00000478842.1_5'UTR	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	115					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATCTTTCTCCTTCCGAGACA	0.363																																																0													88	85	86					3																	156266708		2203	4300	6503	SO:0001583	missense	6747			BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.345G>T	chr3.hg19:g.156266708C>A	ENSP00000265044:p.Lys115Asn		B2R7D0|B4E2P2|D3DNK5|Q549M4	Missense_Mutation	SNP	ENST00000265044.2	hg19	CCDS3176.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955265	0.73902	.	.	ENSG00000114850	ENST00000265044;ENST00000467789;ENST00000476217;ENST00000463503;ENST00000496050	.	.	.	5.41	2.62	0.31277	.	0.094589	0.64402	D	0.000001	T	0.79015	0.4375	M	0.87827	2.91	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.971	T	0.81282	-0.1003	9	0.87932	D	0	-1.3739	11.1574	0.48495	0.0:0.7892:0.0:0.2108	.	115;115	B4E2P2;Q9UNL2	.;SSRG_HUMAN	N	115;115;115;63;63	.	ENSP00000265044:K115N	K	-	3	2	SSR3	157749402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.461000	0.35255	0.767000	0.33267	0.650000	0.86243	AAG		0.363	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351521.1	NM_007107		A	156266708	C	A	156266708	3	1	632	1	0	0	0	0	1	0	0	0	15197	680	24	4	224	4	SSR3	3	156266708	Missense_Mutation	SNP	C	TCGA-DZ-6135-01A-11D-1961-08	33219129	156266708	41755722	10	34399											
HELQ	113510	hgsc.bcm.edu	37	4	84342848	84342848	+	Silent	SNP	A	A	G			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr4:84342848A>G	ENST00000295488.3	-	15	2979	c.2817T>C	c.(2815-2817)ttT>ttC	p.F939F	HELQ_ENST00000510985.1_Silent_p.F872F	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	939					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TATAAAGAACAAAAGACAGAT	0.343								Other identified genes with known or suspected DNA repair function																																								0													84	83	84					4																	84342848		2203	4300	6503	SO:0001819	synonymous_variant	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2817T>C	chr4.hg19:g.84342848A>G			Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	hg19	CCDS3603.1																																																																																				0.343	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		G	84342848	A	G	84342848	2	3	632	1	0	0	0	0	0	0	0	1	7049	127	5	3		3	HELQ	4	84342848	Silent	SNP	A	TCGA-DZ-6135-01A-11D-1961-08		84342848	106811428	11	34400											
BHMT	635	hgsc.bcm.edu	37	5	78415091	78415091	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr5:78415091T>C	ENST00000274353.5	+	3	283	c.176T>C	c.(175-177)cTt>cCt	p.L59P	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	59	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GTTCGCCAGCTTCATCGAGAG	0.438																																																0													99	94	95					5																	78415091		2203	4300	6503	SO:0001583	missense	635			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.176T>C	chr5.hg19:g.78415091T>C	ENSP00000274353:p.Leu59Pro		Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	hg19	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611557	0.87258	.	.	ENSG00000145692	ENST00000274353	T	0.13089	2.62	5.6	5.6	0.85130	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.48390	0.1497	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61237	-0.7103	10	0.87932	D	0	-13.4798	16.0786	0.80985	0.0:0.0:0.0:1.0	.	59	Q93088	BHMT1_HUMAN	P	59	ENSP00000274353:L59P	ENSP00000274353:L59P	L	+	2	0	BHMT	78450847	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.669000	0.83911	2.254000	0.74563	0.460000	0.39030	CTT		0.438	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		C	78415091	T	C	78415091	3	2	632	1	0	0	0	0	1	0	0	0	1425	1609	56	3	186	3	BHMT	5	78415091	Missense_Mutation	SNP	T	TCGA-DZ-6135-01A-11D-1961-08		78415091	102500169	12	34401											
PGGT1B	5229	hgsc.bcm.edu	37	5	114573574	114573574	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr5:114573574G>A	ENST00000419445.1	-	4	480	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	PGGT1B_ENST00000379615.3_Missense_Mutation_p.L154F	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	154					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		TCCAGCTGAAGGGCTCTCAAG	0.383																																																0													72	78	76					5																	114573574		2201	4300	6501	SO:0001583	missense	5229				CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.460C>T	chr5.hg19:g.114573574G>A	ENSP00000404676:p.Leu154Phe		Q5MJP9	Missense_Mutation	SNP	ENST00000419445.1	hg19	CCDS4116.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254124	0.59212	.	.	ENSG00000164219	ENST00000419445;ENST00000379615	T;T	0.32515	1.45;1.45	5.47	4.6	0.57074	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.113305	0.64402	D	0.000008	T	0.64692	0.2621	M	0.91818	3.245	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.75164	-0.3414	10	0.66056	D	0.02	-11.4224	16.6769	0.85281	0.0:0.1298:0.8702:0.0	.	154;154	P53609-2;P53609	.;PGTB1_HUMAN	F	154	ENSP00000404676:L154F;ENSP00000368935:L154F	ENSP00000368935:L154F	L	-	1	0	PGGT1B	114601473	1.000000	0.71417	0.947000	0.38551	0.329000	0.28539	9.740000	0.98839	1.422000	0.47177	0.655000	0.94253	CTT		0.383	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		A	114573574	G	A	114573574	3	1	632	1	0	0	0	0	1	0	0	0	11791	1000	35	2	697	2	PGGT1B	5	114573574	Missense_Mutation	SNP	G	TCGA-DZ-6135-01A-11D-1961-08	36158483	114573574	66341686	13	34402											
WDR55	54853	hgsc.bcm.edu	37	5	140049032	140049032	+	Silent	SNP	T	T	C			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr5:140049032T>C	ENST00000358337.5	+	7	1182	c.945T>C	c.(943-945)caT>caC	p.H315H	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	315					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGTGGCCATGACCAGCGCC	0.632																																																0													27	30	29					5																	140049032		2203	4300	6503	SO:0001819	synonymous_variant	54853			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"WD repeat domain containing"	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.945T>C	chr5.hg19:g.140049032T>C			Q9NXK4	Silent	SNP	ENST00000358337.5	hg19	CCDS4235.1																																																																																				0.632	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		C	140049032	T	C	140049032	2	2	632	1	0	0	0	0	0	0	0	1	17312	1461	51	3		3	WDR55	5	140049032	Silent	SNP	T	TCGA-DZ-6135-01A-11D-1961-08	25475458	140049032	40866228	14	34403											
PCDHGC3	5098	hgsc.bcm.edu	37	5	140856169	140856169	+	Silent	SNP	C	C	A			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr5:140856169C>A	ENST00000308177.3	+	1	590	c.486C>A	c.(484-486)ccC>ccA	p.P162P	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCACGATCCCGATGTGGGAA	0.567																																																0													54	56	56					5																	140856169		2203	4300	6503	SO:0001819	synonymous_variant	5098			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.486C>A	chr5.hg19:g.140856169C>A			O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	hg19	CCDS4261.1																																																																																				0.567	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		A	140856169	C	A	140856169	2	1	632	1	0	0	0	0	0	0	0	1	11571	639	23	4		4	PCDHGC3	5	140856169	Silent	SNP	C	TCGA-DZ-6135-01A-11D-1961-08	807137	140856169	40059091	15	34404											
REV3L	5980	hgsc.bcm.edu	37	6	111632330	111632330	+	Missense_Mutation	SNP	A	A	T			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr6:111632330A>T	ENST00000358835.3	-	30	9191	c.8737T>A	c.(8737-8739)Tac>Aac	p.Y2913N	REV3L_ENST00000368805.1_Missense_Mutation_p.Y2913N|REV3L_ENST00000368802.3_Missense_Mutation_p.Y2913N|REV3L_ENST00000435970.1_Missense_Mutation_p.Y2835N|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000462119.1_5'UTR			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2913					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCTCTGTATTCCTTGGCA	0.408								DNA polymerases (catalytic subunits)																																								0													179	179	179					6																	111632330		2203	4300	6503	SO:0001583	missense	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8737T>A	chr6.hg19:g.111632330A>T	ENSP00000351697:p.Tyr2913Asn		O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	hg19	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	27.2	4.809421	0.90707	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.48	5.48	0.80851	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.069117	0.64402	D	0.000012	T	0.41026	0.1141	M	0.88310	2.945	0.58432	D	0.999999	D	0.69078	0.997	D	0.81914	0.995	T	0.52601	-0.8554	10	0.87932	D	0	-3.7627	15.5643	0.76277	1.0:0.0:0.0:0.0	.	2913	O60673	DPOLZ_HUMAN	N	2913;2913;2913;2835	ENSP00000357792:Y2913N;ENSP00000357795:Y2913N;ENSP00000351697:Y2913N;ENSP00000402003:Y2835N	ENSP00000351697:Y2913N	Y	-	1	0	REV3L	111739023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.266000	0.95659	2.085000	0.62840	0.455000	0.32223	TAC		0.408	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		T	111632330	A	T	111632330	3	4	632	1	0	0	0	0	1	0	0	0	13246	449	16	5	671	5	REV3L	6	111632330	Missense_Mutation	SNP	A	TCGA-DZ-6135-01A-11D-1961-08		111632330	59482737	16	34405											
NFE2L3	9603	hgsc.bcm.edu	37	7	26223344	26223347	+	Frame_Shift_Del	DEL	TTCT	TTCT	-	rs370809004|rs534912151	byFrequency	TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	TTCT	TTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr7:26223344_26223347delTTCT	ENST00000056233.3	+	3	1033_1036	c.774_777delTTCT	c.(772-777)acttctfs	p.TS258fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	258					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGACAGATACTTCTTTCTCTCTGG	0.402																																																0																																										SO:0001589	frameshift_variant	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.774_777delTTCT	chr7.hg19:g.26223348_26223351delTTCT	ENSP00000056233:p.Thr258fs		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Del	DEL	ENST00000056233.3	hg19	CCDS5396.1																																																																																				0.402	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			-	26223347	TTCT	-	26223344	7	5	632	1	0	1	0	1	0	0	0	0	10371	1596	56	0	784	0	NFE2L3	7	26223344	Frame_Shift_Del	DEL	TTCT	TCGA-DZ-6135-01A-11D-1961-08		26223344	132915319	17	34406											
MET	4233	hgsc.bcm.edu	37	7	116423474	116423474	+	Missense_Mutation	SNP	T	T	C	rs121913245		TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr7:116423474T>C	ENST00000318493.6	+	19	3990	c.3803T>C	c.(3802-3804)aTg>aCg	p.M1268T	MET_ENST00000397752.3_Missense_Mutation_p.M1250T|MET_ENST00000539704.1_Missense_Mutation_p.M120T			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M1268T(4)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGAAGTGGATGGCTTTGGAA	0.393			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	4	Substitution - Missense(4)	kidney(4)	GRCh37	CM992181	MET	M	rs121913245						93	92	92					7																	116423474		1872	4102	5974	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3803T>C	chr7.hg19:g.116423474T>C	ENSP00000317272:p.Met1268Thr		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740165	0.69304	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.37752	1.18;1.18;1.18	5.68	5.68	0.88126	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;1.0	T	0.65734	-0.6096	10	0.87932	D	0	.	16.2225	0.82267	0.0:0.0:0.0:1.0	.	1268;1250	P08581-2;P08581	.;MET_HUMAN	T	1250;1268;120	ENSP00000380860:M1250T;ENSP00000317272:M1268T;ENSP00000445020:M120T	ENSP00000317272:M1268T	M	+	2	0	MET	116210710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.289000	0.77006	0.460000	0.39030	ATG		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			C	116423474	T	C	116423474	3	2	632	1	0	0	0	0	1	0	0	0	9487	1464	51	3	3873	3	MET	7	116423474	Missense_Mutation	SNP	T	TCGA-DZ-6135-01A-11D-1961-08	90200130	116423474	42715189	18	34407											
PRKAG2	51422	hgsc.bcm.edu	37	7	151372604	151372604	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr7:151372604A>G	ENST00000287878.4	-	4	1090	c.586T>C	c.(586-588)Tcc>Ccc	p.S196P	PRKAG2_ENST00000392801.2_Missense_Mutation_p.S152P|PRKAG2_ENST00000492843.1_Missense_Mutation_p.S72P|PRKAG2_ENST00000433631.2_Missense_Mutation_p.S72P|PRKAG2_ENST00000461529.1_5'Flank	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	196					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TCCGGGGGGGAAGACGAGGCA	0.587																																																0													107	94	98					7																	151372604		2203	4300	6503	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.586T>C	chr7.hg19:g.151372604A>G	ENSP00000287878:p.Ser196Pro		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	hg19	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	A	8.526	0.869797	0.17322	.	.	ENSG00000106617	ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D	0.91295	-2.16;-2.82;-2.82;-2.56	5.21	1.48	0.22813	.	0.287492	0.34652	N	0.003782	T	0.82066	0.4956	L	0.27053	0.805	0.20926	N	0.999826	B;B;B	0.14805	0.007;0.011;0.001	B;B;B	0.13407	0.008;0.009;0.0	T	0.70385	-0.4886	10	0.51188	T	0.08	.	8.0661	0.30661	0.7474:0.0:0.2526:0.0	.	72;196;196	B7Z6X8;Q8NCK6;Q9UGJ0	.;.;AAKG2_HUMAN	P	196;72;72;152	ENSP00000287878:S196P;ENSP00000419577:S72P;ENSP00000406544:S72P;ENSP00000376549:S152P	ENSP00000287878:S196P	S	-	1	0	PRKAG2	151003537	1.000000	0.71417	0.019000	0.16419	0.005000	0.04900	2.388000	0.44398	0.019000	0.15079	-0.388000	0.06559	TCC		0.587	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		G	151372604	A	G	151372604	3	3	632	1	0	0	0	0	1	0	0	0	12506	246	9	3	1175	3	PRKAG2	7	151372604	Missense_Mutation	SNP	A	TCGA-DZ-6135-01A-11D-1961-08	34949130	151372604	7766059	19	34408											
TOPORS	10210	hgsc.bcm.edu	37	9	32543270	32543270	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr9:32543270T>C	ENST00000360538.2	-	3	1369	c.1253A>G	c.(1252-1254)gAt>gGt	p.D418G	TOPORS_ENST00000379858.1_Missense_Mutation_p.D353G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	418					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGGAGTTTCATCATCCCATGG	0.423																																																0													126	126	126					9																	32543270		2203	4299	6502	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1253A>G	chr9.hg19:g.32543270T>C	ENSP00000353735:p.Asp418Gly		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	hg19	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	9.322	1.058402	0.19987	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.18657	2.2;2.21	5.63	5.63	0.86233	.	0.140255	0.33199	N	0.005175	T	0.20292	0.0488	L	0.34521	1.04	0.52099	D	0.999947	P	0.47191	0.891	B	0.42522	0.39	T	0.01252	-1.1405	10	0.59425	D	0.04	-15.9255	14.84	0.70217	0.0:0.0:0.0:1.0	.	418	Q9NS56	TOPRS_HUMAN	G	418;353	ENSP00000353735:D418G;ENSP00000369187:D353G	ENSP00000353735:D418G	D	-	2	0	TOPORS	32533270	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	7.698000	0.84413	2.145000	0.66743	0.528000	0.53228	GAT		0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		C	32543270	T	C	32543270	3	2	632	1	0	0	0	0	1	0	0	0	16375	1435	50	3	1888	3	TOPORS	9	32543270	Missense_Mutation	SNP	T	TCGA-DZ-6135-01A-11D-1961-08		32543270	108670161	20	34409											
SPTAN1	6709	hgsc.bcm.edu	37	9	131361264	131361264	+	Splice_Site	SNP	G	G	T			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr9:131361264G>T	ENST00000372731.4	+	26	3652	c.3542G>T	c.(3541-3543)aGg>aTg	p.R1181M	SPTAN1_ENST00000372739.3_Splice_Site_p.R1181M|SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000358161.5_Splice_Site_p.R1181M	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1181					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGATGCCCAGGGTAAGTTTC	0.398																																					NSCLC(120;833 1744 2558 35612 37579)											0													195	177	183					9																	131361264		2203	4300	6503	SO:0001630	splice_region_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3543+1G>T	chr9.hg19:g.131361264G>T			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	hg19	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758441	0.49468	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51325	0.71;0.73;0.71	5.93	2.99	0.34606	.	0.237058	0.49916	D	0.000123	T	0.27419	0.0673	N	0.08118	0	0.41841	D	0.990122	B;B;P;P;P	0.37276	0.187;0.22;0.589;0.589;0.454	B;B;B;B;B	0.37047	0.121;0.188;0.24;0.24;0.121	T	0.13045	-1.0524	10	0.72032	D	0.01	.	10.0762	0.42362	0.2288:0.0:0.7712:0.0	.	1181;1161;1161;1181;1181	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	M	1181;1181;1181;1161	ENSP00000350882:R1181M;ENSP00000361816:R1181M;ENSP00000361824:R1181M	ENSP00000350882:R1181M	R	+	2	0	SPTAN1	130401085	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.468000	0.35332	0.342000	0.23796	0.555000	0.69702	AGG		0.398	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	Missense_Mutation	T	131361264	G	T	131361264	5	4	632	1	0	0	0	0	0	0	1	0	15122	1014	35	4	3640	4	SPTAN1	9	131361264	Splice_Site	SNP	G	TCGA-DZ-6135-01A-11D-1961-08	98817994	131361264	9852167	21	34410											
CHD4	1108	hgsc.bcm.edu	37	12	6711561	6711561	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr12:6711561C>G	ENST00000357008.2	-	3	366	c.203G>C	c.(202-204)aGc>aCc	p.S68T	CHD4_ENST00000309577.6_Missense_Mutation_p.S68T|CHD4_ENST00000544040.1_Missense_Mutation_p.S68T|CHD4_ENST00000544484.1_Missense_Mutation_p.S65T	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	68					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TTGGCGCTTGCTCTTAGGGAT	0.478																																					Colon(32;586 792 4568 16848 45314)											0													238	240	239					12																	6711561		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.203G>C	chr12.hg19:g.6711561C>G	ENSP00000349508:p.Ser68Thr		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	hg19	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660131	0.29515	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942;ENST00000545584	D;D;D;D;T	0.90197	-2.63;-2.6;-2.62;-2.63;0.88	5.26	5.26	0.73747	.	0.301114	0.34879	N	0.003602	D	0.84106	0.5399	L	0.36672	1.1	0.38243	D	0.941392	B;B;B	0.31817	0.341;0.231;0.341	B;B;B	0.28011	0.085;0.027;0.059	T	0.81773	-0.0779	10	0.12766	T	0.61	-0.8518	14.1344	0.65276	0.1501:0.8499:0.0:0.0	.	68;68;68	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	65;68;68;68;49;68;68	ENSP00000440392:S65T;ENSP00000440542:S68T;ENSP00000312419:S68T;ENSP00000349508:S68T;ENSP00000437506:S68T	ENSP00000312419:S68T	S	-	2	0	CHD4	6581822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.832000	0.55783	2.633000	0.89246	0.555000	0.69702	AGC		0.478	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		G	6711561	C	G	6711561	3	3	632	1	0	0	0	0	1	0	0	0	3329	797	28	4	5687	4	CHD4	12	6711561	Missense_Mutation	SNP	C	TCGA-DZ-6135-01A-11D-1961-08		6711561	127140334	22	34411											
TUBA3C	7278	hgsc.bcm.edu	37	13	19751148	19751148	+	Silent	SNP	C	C	G			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr13:19751148C>G	ENST00000400113.3	-	4	1079	c.975G>C	c.(973-975)ccG>ccC	p.P325P		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	325					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGACATCTTTCGGGACCACAT	0.547																																																0													158	130	139					13																	19751148		2203	4300	6503	SO:0001819	synonymous_variant	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.975G>C	chr13.hg19:g.19751148C>G			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	hg19	CCDS9284.1																																																																																				0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		G	19751148	C	G	19751148	2	3	632	1	0	0	0	0	0	0	0	1	16751	871	31	4		4	TUBA3C	13	19751148	Silent	SNP	C	TCGA-DZ-6135-01A-11D-1961-08		19751148	95418730	23	34412											
LNX2	222484	hgsc.bcm.edu	37	13	28143269	28143269	+	Silent	SNP	G	G	A			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr13:28143269G>A	ENST00000316334.3	-	3	681	c.552C>T	c.(550-552)ggC>ggT	p.G184G		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	184					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CAGGCACTGCGCCTGTCCCCA	0.532																																																0													241	235	237					13																	28143269		2203	4300	6503	SO:0001819	synonymous_variant	222484			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.552C>T	chr13.hg19:g.28143269G>A			Q5W0P0|Q6ZMH2|Q96SH4	Silent	SNP	ENST00000316334.3	hg19	CCDS9323.1																																																																																				0.532	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			A	28143269	G	A	28143269	2	1	632	1	0	0	0	0	0	0	0	1	8868	1074	38	1		1	LNX2	13	28143269	Silent	SNP	G	TCGA-DZ-6135-01A-11D-1961-08	8392121	28143269	87026609	24	34413											
KLHL1	57626	hgsc.bcm.edu	37	13	70549759	70549759	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr13:70549759C>G	ENST00000377844.4	-	2	1432	c.673G>C	c.(673-675)Gca>Cca	p.A225P	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	225	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TACCTATGTGCAGGTATCTTT	0.403																																																0													148	136	140					13																	70549759		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.673G>C	chr13.hg19:g.70549759C>G	ENSP00000367075:p.Ala225Pro		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	hg19	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876217	0.72180	.	.	ENSG00000150361	ENST00000377844	T	0.78003	-1.14	5.82	5.82	0.92795	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.172430	0.41097	D	0.000941	D	0.92795	0.7709	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94480	0.7692	10	0.87932	D	0	.	20.0951	0.97834	0.0:1.0:0.0:0.0	.	225	Q9NR64	KLHL1_HUMAN	P	225	ENSP00000367075:A225P	ENSP00000367075:A225P	A	-	1	0	KLHL1	69447760	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.197000	0.77814	2.753000	0.94483	0.467000	0.42956	GCA		0.403	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		G	70549759	C	G	70549759	3	3	632	1	0	0	0	0	1	0	0	0	8367	710	25	4	1613	4	KLHL1	13	70549759	Missense_Mutation	SNP	C	TCGA-DZ-6135-01A-11D-1961-08	42406490	70549759	44620119	25	34414											
UBE3A	7337	hgsc.bcm.edu	37	15	25616649	25616649	+	Missense_Mutation	SNP	T	T	A			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr15:25616649T>A	ENST00000397954.2	-	4	680	c.681A>T	c.(679-681)ttA>ttT	p.L227F	UBE3A_ENST00000566215.1_Missense_Mutation_p.L204F|UBE3A_ENST00000428984.2_Missense_Mutation_p.L204F|UBE3A_ENST00000232165.3_Missense_Mutation_p.L224F|UBE3A_ENST00000438097.1_Missense_Mutation_p.L204F|SNHG14_ENST00000554726.1_RNA			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	227					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CATCAGGGCCTAATTTTTGCA	0.418																																																0													179	174	176					15																	25616649		2203	4300	6503	SO:0001583	missense	7337			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.681A>T	chr15.hg19:g.25616649T>A	ENSP00000381045:p.Leu227Phe		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	hg19	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	T	5.048	0.194522	0.09599	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.84	2.23	0.28157	.	0.385567	0.26421	N	0.024461	T	0.09992	0.0245	N	0.14661	0.345	0.47123	D	0.999328	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17684	-1.0361	10	0.09590	T	0.72	.	9.4825	0.38908	0.0:0.293:0.0:0.707	.	224;227	Q05086-3;Q05086	.;UBE3A_HUMAN	F	224;224;227;204;204	ENSP00000232165:L224F;ENSP00000381045:L227F;ENSP00000411258:L204F;ENSP00000401265:L204F	ENSP00000232165:L224F	L	-	3	2	UBE3A	23167742	0.789000	0.28775	0.833000	0.33012	0.928000	0.56348	-0.010000	0.12743	0.448000	0.26722	0.482000	0.46254	TTA		0.418	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		A	25616649	T	A	25616649	3	1	632	1	0	0	0	0	1	0	0	0	16884	1519	53	5	1978	5	UBE3A	15	25616649	Missense_Mutation	SNP	T	TCGA-DZ-6135-01A-11D-1961-08		25616649	76914743	26	34415											
CCDC78	124093	hgsc.bcm.edu	37	16	775528	775528	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr16:775528G>T	ENST00000293889.6	-	4	425	c.320C>A	c.(319-321)aCc>aAc	p.T107N	HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	107					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GCCCTGGCTGGTGCCATCTCC	0.652																																																0													55	53	53					16																	775528		2194	4297	6491	SO:0001583	missense	124093			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.320C>A	chr16.hg19:g.775528G>T	ENSP00000293889:p.Thr107Asn		B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	hg19	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	G	3.380	-0.126581	0.06795	.	.	ENSG00000162004	ENST00000293889	T	0.42900	0.96	3.03	0.647	0.17796	.	0.915341	0.09100	N	0.848716	T	0.18299	0.0439	N	0.08118	0	0.09310	N	1	P;P;P;B	0.39157	0.662;0.662;0.662;0.016	B;B;B;B	0.32624	0.149;0.106;0.149;0.015	T	0.12426	-1.0548	10	0.59425	D	0.04	-0.2556	3.877	0.09061	0.156:0.2512:0.5928:0.0	.	107;107;181;107	A2IDD5-4;A2IDD5-6;A2IDD5-5;A2IDD5	.;.;.;CCD78_HUMAN	N	107	ENSP00000293889:T107N	ENSP00000293889:T107N	T	-	2	0	CCDC78	715529	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.489000	0.06490	0.376000	0.24707	0.436000	0.28706	ACC		0.652	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		T	775528	G	T	775528	3	4	632	1	0	0	0	0	1	0	0	0	2854	1261	44	4	1040	4	CCDC78	16	775528	Missense_Mutation	SNP	G	TCGA-DZ-6135-01A-11D-1961-08		775528	89579225	27	34416											
SNX29	92017	hgsc.bcm.edu	37	16	12618621	12618621	+	Silent	SNP	C	C	T			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr16:12618621C>T	ENST00000566228.1	+	20	2310	c.2241C>T	c.(2239-2241)aaC>aaT	p.N747N	SNX29_ENST00000323433.4_Silent_p.N362N|SNX29_ENST00000306030.3_Silent_p.N362N	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	747	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCGTCATGAACAAAGTCATCC	0.522																																																0													94	101	99					16																	12618621		2049	4201	6250	SO:0001819	synonymous_variant	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2241C>T	chr16.hg19:g.12618621C>T			B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	hg19	CCDS10553.2																																																																																				0.522	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			T	12618621	C	T	12618621	2	4	632	1	0	0	0	0	0	0	0	1	14904	477	17	2		2	SNX29	16	12618621	Silent	SNP	C	TCGA-DZ-6135-01A-11D-1961-08	11843093	12618621	77736132	28	34417											
FAM83G	644815	hgsc.bcm.edu	37	17	18881233	18881233	+	Missense_Mutation	SNP	T	T	A			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr17:18881233T>A	ENST00000388995.6	-	5	1969	c.1746A>T	c.(1744-1746)gaA>gaT	p.E582D	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.E582D|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E582D			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	582					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CGTCATCATCTTCTTCTTCCA	0.657																																																0													46	53	51					17																	18881233		2011	4159	6170	SO:0001583	missense	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1746A>T	chr17.hg19:g.18881233T>A	ENSP00000373647:p.Glu582Asp		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	hg19	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701515	0.68501	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.14640	2.49;2.49	5.72	-5.84	0.02318	.	0.665977	0.14951	N	0.288895	T	0.08313	0.0207	L	0.53249	1.67	0.21802	N	0.999537	B	0.21606	0.058	B	0.17098	0.017	T	0.35425	-0.9789	10	0.19590	T	0.45	-18.4782	3.4372	0.07450	0.0963:0.4161:0.1946:0.2931	.	582	A6ND36	FA83G_HUMAN	D	582	ENSP00000373647:E582D;ENSP00000343279:E582D	ENSP00000343279:E582D	E	-	3	2	FAM83G	18821958	0.010000	0.17322	0.616000	0.29078	0.890000	0.51754	-1.760000	0.01806	-0.435000	0.07264	0.533000	0.62120	GAA		0.657	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			A	18881233	T	A	18881233	3	1	632	1	0	0	0	0	1	0	0	0	5641	1606	56	5	733	5	FAM83G	17	18881233	Missense_Mutation	SNP	T	TCGA-DZ-6135-01A-11D-1961-08		18881233	62313977	29	34418											
CDK5R1	8851	hgsc.bcm.edu	37	17	30815101	30815101	+	Silent	SNP	C	C	T			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr17:30815101C>T	ENST00000313401.3	+	2	1152	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	155					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GCTTCGCTGCCTGGGTGAGTT	0.667																																																0													44	45	45					17																	30815101		2203	4300	6503	SO:0001819	synonymous_variant	8851			X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.463C>T	chr17.hg19:g.30815101C>T			E1P664|Q5U0G3	Silent	SNP	ENST00000313401.3	hg19	CCDS11273.1																																																																																				0.667	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	NM_003885		T	30815101	C	T	30815101	2	4	632	1	0	0	0	0	0	0	0	1	3145	680	24	2		2	CDK5R1	17	30815101	Silent	SNP	C	TCGA-DZ-6135-01A-11D-1961-08	11933868	30815101	50380109	30	34419											
ZNF700	90592	hgsc.bcm.edu	37	19	12060395	12060395	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr19:12060395C>G	ENST00000254321.5	+	4	1699	c.1556C>G	c.(1555-1557)tCt>tGt	p.S519C	ZNF700_ENST00000482090.1_Missense_Mutation_p.S501C|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GGCTTTTATTCTGCCAAGTCA	0.383																																																0													59	63	62					19																	12060395		2203	4300	6503	SO:0001583	missense	90592			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1556C>G	chr19.hg19:g.12060395C>G	ENSP00000254321:p.Ser519Cys		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	hg19	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	3.218	-0.160082	0.06502	.	.	ENSG00000196757	ENST00000254321	T	0.07688	3.17	0.672	-1.34	0.09143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05181	0.0138	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39333	-0.9619	9	0.36615	T	0.2	.	4.3948	0.11358	0.0:0.3788:0.4495:0.1717	.	519	Q9H0M5	ZN700_HUMAN	C	519	ENSP00000254321:S519C	ENSP00000254321:S519C	S	+	2	0	ZNF700	11921395	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.814000	0.04486	-1.070000	0.03149	-0.705000	0.03659	TCT		0.383	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		G	12060395	C	G	12060395	3	3	632	1	0	0	0	0	1	0	0	0	18109	913	32	4	1570	4	ZNF700	19	12060395	Missense_Mutation	SNP	C	TCGA-DZ-6135-01A-11D-1961-08		12060395	47068588	31	34420											
IL4I1	259307	hgsc.bcm.edu	37	19	50393785	50393785	+	Silent	SNP	C	C	T			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr19:50393785C>T	ENST00000391826.2	-	8	988	c.846G>A	c.(844-846)ctG>ctA	p.L282L	MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000595948.1_Silent_p.L304L|IL4I1_ENST00000341114.3_Silent_p.L304L	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	282						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GCGCGTTCAACAGCACAAGCC	0.711											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													18	18	18					19																	50393785		2202	4299	6501	SO:0001819	synonymous_variant	259307			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.846G>A	chr19.hg19:g.50393785C>T		969	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	hg19	CCDS12787.1																																																																																				0.711	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			T	50393785	C	T	50393785	2	4	632	1	0	0	0	0	0	0	0	1	7699	465	17	2		2	IL4I1	19	50393785	Silent	SNP	C	TCGA-DZ-6135-01A-11D-1961-08	38333390	50393785	8735198	32	34421											
ZNF615	284370	hgsc.bcm.edu	37	19	52496292	52496292	+	Silent	SNP	C	C	A	rs146634089		TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr19:52496292C>A	ENST00000602063.1	-	6	2386	c.2037G>T	c.(2035-2037)ccG>ccT	p.P679P	ZNF615_ENST00000391795.3_Silent_p.P684P|ZNF615_ENST00000594083.1_Silent_p.P690P|ZNF615_ENST00000598071.1_Silent_p.P690P|ZNF615_ENST00000376716.5_Silent_p.P679P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P679P(1)|p.P690P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCATTTGTACGGTTTCTCTC	0.408																																																2	Substitution - coding silent(2)	large_intestine(2)											160	155	157					19																	52496292		2203	4300	6503	SO:0001819	synonymous_variant	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2037G>T	chr19.hg19:g.52496292C>A			B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	hg19	CCDS12846.1																																																																																				0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		A	52496292	C	A	52496292	2	1	632	1	0	0	0	0	0	0	0	1	18045	523	19	4		4	ZNF615	19	52496292	Silent	SNP	C	TCGA-DZ-6135-01A-11D-1961-08	2102507	52496292	6632691	33	34422											
TRIM28	10155	hgsc.bcm.edu	37	19	59057198	59057198	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr19:59057198G>A	ENST00000253024.5	+	3	810	c.521G>A	c.(520-522)tGt>tAt	p.C174Y	TRIM28_ENST00000341753.6_Intron|RN7SL525P_ENST00000579267.1_RNA	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	174	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGCCTCTGTGTGAGACCTGT	0.577																																																0													80	75	77					19																	59057198		2203	4300	6503	SO:0001583	missense	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.521G>A	chr19.hg19:g.59057198G>A	ENSP00000253024:p.Cys174Tyr		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	hg19	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934831	0.73442	.	.	ENSG00000130726	ENST00000253024	D	0.99080	-5.4	4.89	4.89	0.63831	Zinc finger, B-box (3);	0.000000	0.64402	D	0.000017	D	0.99453	0.9806	M	0.93638	3.44	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98378	1.0557	10	0.87932	D	0	-16.8595	15.9183	0.79539	0.0:0.0:1.0:0.0	.	174	Q13263	TIF1B_HUMAN	Y	174	ENSP00000253024:C174Y	ENSP00000253024:C174Y	C	+	2	0	TRIM28	63749010	1.000000	0.71417	0.998000	0.56505	0.414000	0.31173	9.337000	0.96545	2.432000	0.82394	0.558000	0.71614	TGT		0.577	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		A	59057198	G	A	59057198	3	1	632	1	0	0	0	0	1	0	0	0	16507	1377	48	2	531	2	TRIM28	19	59057198	Missense_Mutation	SNP	G	TCGA-DZ-6135-01A-11D-1961-08	6560906	59057198	71785	34	34423											
KRTAP26-1	388818	hgsc.bcm.edu	37	21	31692296	31692296	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6135-01A-11D-1961-08	TCGA-DZ-6135-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	555a55c5-0299-42ea-b192-fd3595ea0aec	0d8c5c0b-123a-491f-a521-4dfea8a0d89d	g.chr21:31692296G>A	ENST00000360542.3	-	1	311	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	20						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GGAATATGGCGGGAGGTTCTG	0.532																																																0																																										SO:0001583	missense	388818			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.58C>T	chr21.hg19:g.31692296G>A	ENSP00000353742:p.Arg20Cys		B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	hg19	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.544573	0.00934	.	.	ENSG00000197683	ENST00000360542	T	0.02837	4.14	4.95	3.8	0.43715	.	0.425318	0.22440	N	0.060032	T	0.00815	0.0027	N	0.00413	-1.525	0.28406	N	0.918409	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	10	0.02654	T	1	-2.2098	8.113	0.30926	0.9049:0.0:0.0951:0.0	.	20	Q6PEX3	KR261_HUMAN	C	20	ENSP00000353742:R20C	ENSP00000353742:R20C	R	-	1	0	KRTAP26-1	30614167	0.900000	0.30661	0.326000	0.25389	0.313000	0.28021	0.998000	0.29744	0.963000	0.38082	-0.285000	0.09966	CGC		0.532	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		A	31692296	G	A	31692296	3	1	632	1	0	0	0	0	1	0	0	0	8545	1116	39	1	578	1	KRTAP26-1	21	31692296	Missense_Mutation	SNP	G	TCGA-DZ-6135-01A-11D-1961-08		31692296	16437599	35	34424											
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10425659	10425659	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr1:10425659G>C	ENST00000377086.1	+	43	4907	c.4705G>C	c.(4705-4707)Gga>Cga	p.G1569R	KIF1B_ENST00000377081.1_Missense_Mutation_p.G1569R|KIF1B_ENST00000263934.6_Missense_Mutation_p.G1523R			O60333	KIF1B_HUMAN	kinesin family member 1B	1569					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.G1523R(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTATGATTCAGGAGACATCGA	0.527																																																1	Substitution - Missense(1)	kidney(1)											107	100	102					1																	10425659		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4705G>C	1.37:g.10425659G>C	ENSP00000366290:p.Gly1569Arg		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	8.256	0.810181	0.16537	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.71341	-0.48;-0.56;-0.56	5.75	1.85	0.25348	.	0.254958	0.39341	N	0.001386	T	0.44435	0.1293	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0;0.001	T	0.21518	-1.0243	10	0.10902	T	0.67	.	10.2607	0.43425	0.4501:0.0:0.5499:0.0	.	1555;1529;1569;1543;1569;1523	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	R	1569;1523;1569;1569	ENSP00000263934:G1523R;ENSP00000366290:G1569R;ENSP00000366284:G1569R	ENSP00000263934:G1523R	G	+	1	0	KIF1B	10348246	0.203000	0.23435	0.581000	0.28614	0.912000	0.54170	0.707000	0.25704	0.089000	0.17243	-0.145000	0.13849	GGA		0.527	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			C	10425659	G	C	10425659	3	2	633	1	0	0	0	0	1	0	0	0	8286	1001	35	4	6214	4	KIF1B	1	10425659	Missense_Mutation	SNP	G	TCGA-EU-5904-01A-11D-1669-08		10425659	238824962	1	34425											
OR10J1	26476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159410089	159410089	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr1:159410089G>T	ENST00000423932.3	+	1	578	c.541G>T	c.(541-543)Gct>Tct	p.A181S	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	181					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A181S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ACCCTTCTGTGCTAGAAAGGT	0.488																																																1	Substitution - Missense(1)	kidney(1)											199	181	187					1																	159410089		2203	4300	6503	SO:0001583	missense	26476			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.541G>T	1.37:g.159410089G>T	ENSP00000399078:p.Ala181Ser		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.163469	0.01673	.	.	ENSG00000196184	ENST00000423932	T	0.35421	1.31	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	1.128410	0.06925	N	0.810072	T	0.06645	0.0170	N	0.01761	-0.735	0.23277	N	0.997997	B	0.19200	0.034	B	0.19666	0.026	T	0.19745	-1.0296	10	0.15066	T	0.55	.	14.3909	0.66978	0.0:0.0:1.0:0.0	.	181	P30954	O10J1_HUMAN	S	181	ENSP00000399078:A181S	ENSP00000399078:A181S	A	+	1	0	OR10J1	157676713	0.000000	0.05858	0.933000	0.37362	0.135000	0.20990	-0.460000	0.06720	2.290000	0.77057	0.650000	0.86243	GCT		0.488	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		T	159410089	G	T	159410089	3	4	633	1	0	0	0	0	1	0	0	0	10912	1319	46	4	543	4	OR10J1	1	159410089	Missense_Mutation	SNP	G	TCGA-EU-5904-01A-11D-1669-08	148984430	159410089	89840532	2	34426											
PRG4	10216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186277944	186277944	+	Silent	SNP	C	C	G	rs199545586		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr1:186277944C>G	ENST00000445192.2	+	7	3138	c.3093C>G	c.(3091-3093)ccC>ccG	p.P1031P	PRG4_ENST00000367484.3_Silent_p.P560P|PRG4_ENST00000367483.4_Silent_p.P990P|PRG4_ENST00000367486.3_Silent_p.P988P|PRG4_ENST00000367485.4_Silent_p.P938P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1031					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P1031P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAAAAAACCCACTTCTACCA	0.418																																																1	Substitution - coding silent(1)	kidney(1)											134	156	148					1																	186277944		2203	4300	6503	SO:0001819	synonymous_variant	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3093C>G	1.37:g.186277944C>G			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																				0.418	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		G	186277944	C	G	186277944	2	3	633	1	0	0	0	0	0	0	0	1	12486	581	21	4		4	PRG4	1	186277944	Silent	SNP	C	TCGA-EU-5904-01A-11D-1669-08	26867855	186277944	62972677	3	34427											
TMCC2	9911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205238192	205238192	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr1:205238192G>A	ENST00000358024.3	+	3	1251	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	TMCC2_ENST00000330675.7_Missense_Mutation_p.A63T|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.A210T|TMCC2_ENST00000329800.7_Missense_Mutation_p.A48T	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	288						integral component of membrane (GO:0016021)		p.A63T(1)|p.A288T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GACCAAGGCCGCCATTGACCA	0.642																																																2	Substitution - Missense(2)	kidney(2)											47	45	45					1																	205238192		2203	4300	6503	SO:0001583	missense	9911			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.862G>A	1.37:g.205238192G>A	ENSP00000350718:p.Ala288Thr		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804748	0.50315	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	T;T;T;T;T	0.62232	0.81;0.81;0.04;0.81;0.81	5.82	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.70842	2.15	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.604	D;D;D;B	0.97110	1.0;0.999;1.0;0.274	T	0.74615	-0.3606	10	0.22706	T	0.39	.	15.9275	0.79632	0.0:0.0:0.8636:0.1364	.	84;48;63;288	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	T	288;210;92;63;48	ENSP00000350718:A288T;ENSP00000437943:A210T;ENSP00000356127:A92T;ENSP00000331842:A63T;ENSP00000329436:A48T	ENSP00000329436:A48T	A	+	1	0	TMCC2	203504815	1.000000	0.71417	0.880000	0.34516	0.001000	0.01503	9.835000	0.99442	1.447000	0.47661	-0.314000	0.08810	GCC		0.642	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		A	205238192	G	A	205238192	3	1	633	1	0	0	0	0	1	0	0	0	15998	1087	38	1	872	1	TMCC2	1	205238192	Missense_Mutation	SNP	G	TCGA-EU-5904-01A-11D-1669-08	18960248	205238192	44012429	4	34428											
C1orf124	83932	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	231487063	231487063	+	Missense_Mutation	SNP	T	T	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr1:231487063T>G	ENST00000295050.7	+	4	800	c.464T>G	c.(463-465)tTt>tGt	p.F155C	SPRTN_ENST00000391858.4_Missense_Mutation_p.F155C|SPRTN_ENST00000008440.9_Missense_Mutation_p.F112C|SPRTN_ENST00000469904.1_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	155	SprT-like.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)	p.F155C(1)									TACCATACTTTTCACGATGAG	0.423																																																1	Substitution - Missense(1)	kidney(1)											63	65	65					1																	231487063		2203	4300	6503	SO:0001583	missense	0			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"SprT-like domain at the N terminus", "DNA damage-targeting VCP (p97) adaptor"		"chromosome 1 open reading frame 124"	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.464T>G	1.37:g.231487063T>G	ENSP00000295050:p.Phe155Cys		B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420328	0.83559	.	.	ENSG00000010072	ENST00000391858;ENST00000295050;ENST00000008440;ENST00000545269;ENST00000366644	T;T;T	0.50813	0.73;0.73;0.73	5.73	5.73	0.89815	Domain of unknown function SprT-like (2);	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.85299	0.1072	10	0.87932	D	0	-27.6467	16.3135	0.82905	0.0:0.0:0.0:1.0	.	112;155;155	B1AKT0;Q9H040-2;Q9H040	.;.;CA124_HUMAN	C	155;155;112;112;51	ENSP00000375731:F155C;ENSP00000295050:F155C;ENSP00000355604:F51C	ENSP00000008440:F112C	F	+	2	0	C1orf124	229553686	1.000000	0.71417	0.577000	0.28562	0.847000	0.48162	7.997000	0.88414	2.313000	0.78055	0.519000	0.50382	TTT		0.423	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		G	231487063	T	G	231487063	3	3	633	1	0	0	0	0	1	0	0	0	1994	1841	64	5	478	5	C1orf124	1	231487063	Missense_Mutation	SNP	T	TCGA-EU-5904-01A-11D-1669-08	26248871	231487063	17763558	5	34429											
CCDC85A	114800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	56419911	56419911	+	Silent	SNP	C	C	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr2:56419911C>T	ENST00000407595.2	+	2	1078	c.576C>T	c.(574-576)agC>agT	p.S192S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	192								p.S192S(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCCAGGCCAGCCTGTGCCAAC	0.632																																																1	Substitution - coding silent(1)	kidney(1)											27	34	32					2																	56419911		2155	4252	6407	SO:0001819	synonymous_variant	114800			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.576C>T	2.37:g.56419911C>T				Silent	SNP	ENST00000407595.2	37	CCDS46290.1																																																																																				0.632	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			T	56419911	C	T	56419911	2	4	633	1	0	0	0	0	0	0	0	1	2861	738	26	2		2	CCDC85A	2	56419911	Silent	SNP	C	TCGA-EU-5904-01A-11D-1669-08		56419911	186779462	6	34430											
GCC2	9648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109099526	109099526	+	Silent	SNP	C	C	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr2:109099526C>T	ENST00000309863.6	+	12	4068	c.3354C>T	c.(3352-3354)gcC>gcT	p.A1118A		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1118					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.A1118A(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGGAACATGCCACTACTGTAA	0.358																																																1	Substitution - coding silent(1)	kidney(1)											50	49	49					2																	109099526		2203	4300	6503	SO:0001819	synonymous_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3354C>T	2.37:g.109099526C>T			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	CCDS33268.1																																																																																				0.358	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		T	109099526	C	T	109099526	2	4	633	1	0	0	0	0	0	0	0	1	6288	581	21	2		2	GCC2	2	109099526	Silent	SNP	C	TCGA-EU-5904-01A-11D-1669-08	52679615	109099526	134099847	7	34431											
XIRP2	129446	broad.mit.edu	37	2	168105254	168105254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr2:168105254C>A	ENST00000409195.1	+	9	7441	c.7352C>A	c.(7351-7353)tCa>tAa	p.S2451*	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S2229*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S2451*|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2276					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S2451*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCTCCCTGTCAGATATGGAA	0.413																																																1	Substitution - Nonsense(1)	kidney(1)											84	84	84					2																	168105254		1857	4115	5972	SO:0001587	stop_gained	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7352C>A	2.37:g.168105254C>A	ENSP00000386840:p.Ser2451*		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	47	13.035416	0.99715	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.85	4.07	0.47477	.	1.295740	0.05306	N	0.523869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6298	5.0402	0.14454	0.1463:0.6262:0.0:0.2275	.	.	.	.	X	2451;2451;2229	.	ENSP00000295237:S2451X	S	+	2	0	XIRP2	167813500	0.365000	0.25006	0.016000	0.15963	0.358000	0.29455	2.142000	0.42177	0.829000	0.34733	0.643000	0.83706	TCA		0.413	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		A	168105254	C	A	168105254	4	1	633	1	0	0	0	0	0	1	0	0	17435	838	29	4	7382	4	XIRP2	2	168105254	Nonsense_Mutation	SNP	C	TCGA-EU-5904-01A-11D-1669-08	59005728	168105254	75094119	8	34432											
ITGA4	3676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	182396472	182396472	+	Missense_Mutation	SNP	A	A	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr2:182396472A>G	ENST00000397033.2	+	25	3183	c.2753A>G	c.(2752-2754)cAa>cGa	p.Q918R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	918					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.Q918R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GTTCATATCCAACTGGAAGGC	0.343																																																1	Substitution - Missense(1)	kidney(1)											83	83	83					2																	182396472		1811	4072	5883	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2753A>G	2.37:g.182396472A>G	ENSP00000380227:p.Gln918Arg		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	0.226	-1.024594	0.02061	.	.	ENSG00000115232	ENST00000397033	T	0.41065	1.01	5.62	5.62	0.85841	.	0.268987	0.43260	D	0.000594	T	0.24851	0.0603	L	0.29908	0.895	0.32605	N	0.525386	P	0.34462	0.454	B	0.24394	0.053	T	0.25467	-1.0131	10	0.02654	T	1	.	14.0684	0.64847	1.0:0.0:0.0:0.0	.	918	P13612	ITA4_HUMAN	R	918	ENSP00000380227:Q918R	ENSP00000380227:Q918R	Q	+	2	0	ITGA4	182104717	1.000000	0.71417	0.929000	0.37066	0.048000	0.14542	6.356000	0.73046	2.141000	0.66446	0.528000	0.53228	CAA		0.343	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			G	182396472	A	G	182396472	3	3	633	1	0	0	0	0	1	0	0	0	7880	130	5	3	2851	3	ITGA4	2	182396472	Missense_Mutation	SNP	A	TCGA-EU-5904-01A-11D-1669-08	14291218	182396472	60802901	9	34433											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10191492	10191492	+	Missense_Mutation	SNP	G	G	T	rs397516444|rs5030622		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr3:10191492G>T	ENST00000256474.2	+	3	1325	c.485G>T	c.(484-486)tGc>tTc	p.C162F	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.C121F	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	162	Interaction with Elongin BC complex.		C -> F (in VHLD; type I; No effect on interaction with HIF1A nor on HIF1A degradation). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9452032, ECO:0000269|PubMed:9829911}.|C -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|C -> W (in VHLD; type I-II; dbSNP:rs5030622). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|C -> Y (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.C162Y(5)|p.C162F(3)|p.L158fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AAAGAGCGATGCCTCCAGGTT	0.507		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	9	Substitution - Missense(8)|Deletion - Frameshift(1)	kidney(9)	GRCh37	CI011898|CM951291|CM951292	VHL	I|M							94	85	88					3																	10191492		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.485G>T	3.37:g.10191492G>T	ENSP00000256474:p.Cys162Phe		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735262	0.69189	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99830	-7.01;-7.01	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.108704	0.64402	D	0.000008	D	0.99725	0.9893	M	0.66939	2.045	0.48511	D	0.99966	D;D	0.89917	0.997;1.0	D;D	0.78314	0.982;0.991	D	0.96980	0.9714	10	0.87932	D	0	-7.1517	15.8663	0.79067	0.0:0.0:1.0:0.0	.	121;162	P40337-2;P40337	.;VHL_HUMAN	F	162;121;80	ENSP00000256474:C162F;ENSP00000344757:C121F	ENSP00000256474:C162F	C	+	2	0	VHL	10166492	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	4.965000	0.63708	2.676000	0.91093	0.655000	0.94253	TGC		0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		T	10191492	G	T	10191492	3	4	633	1	0	0	0	0	1	0	0	0	17167	1319	46	4	495	4	VHL	3	10191492	Missense_Mutation	SNP	G	TCGA-EU-5904-01A-11D-1669-08		10191492	187830938	10	34434											
NDUFAF3	25915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49059963	49059963	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr3:49059963C>A	ENST00000326925.6	+	2	1396	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	DALRD3_ENST00000440857.1_5'Flank|MIR425_ENST00000362162.1_RNA|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.Q31K|MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.Q31K|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.Q31K|DALRD3_ENST00000313778.5_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	88					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.Q88K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CTCGGTGGTGCAGTGGAACGT	0.612																																																1	Substitution - Missense(1)	kidney(1)											26	25	25					3																	49059963		2203	4300	6503	SO:0001583	missense	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.262C>A	3.37:g.49059963C>A	ENSP00000323076:p.Gln88Lys			Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817943	0.71028	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.78717	0.4327	L	0.53729	1.69	0.80722	D	1	P	0.51653	0.947	P	0.57009	0.811	T	0.73119	-0.4083	10	0.06365	T	0.9	-24.1416	18.6934	0.91592	0.0:1.0:0.0:0.0	.	88	Q9BU61	NDUF3_HUMAN	K	31;88;31;31	ENSP00000323003:Q31K;ENSP00000323076:Q88K;ENSP00000378843:Q31K;ENSP00000402465:Q31K	ENSP00000323003:Q31K	Q	+	1	0	NDUFAF3	49034967	1.000000	0.71417	0.999000	0.59377	0.071000	0.16799	7.273000	0.78527	2.509000	0.84616	0.591000	0.81541	CAG		0.612	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		A	49059963	C	A	49059963	3	1	633	1	0	0	0	0	1	0	0	0	10278	711	25	4	268	4	NDUFAF3	3	49059963	Missense_Mutation	SNP	C	TCGA-EU-5904-01A-11D-1669-08	38868471	49059963	148962467	11	34435											
TP63	8626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	189586470	189586470	+	Missense_Mutation	SNP	C	C	T	rs147148566		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr3:189586470C>T	ENST00000264731.3	+	8	1183	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	TP63_ENST00000418709.2_Missense_Mutation_p.S365L|TP63_ENST00000437221.1_Missense_Mutation_p.S271L|TP63_ENST00000392461.3_Missense_Mutation_p.S271L|TP63_ENST00000354600.5_Missense_Mutation_p.S271L|TP63_ENST00000392460.3_Missense_Mutation_p.S365L|TP63_ENST00000320472.5_Missense_Mutation_p.S365L|TP63_ENST00000456148.1_Missense_Mutation_p.S271L|TP63_ENST00000392463.2_Missense_Mutation_p.S271L|TP63_ENST00000449992.1_Missense_Mutation_p.S186L|TP63_ENST00000382063.4_Missense_Mutation_p.S280L|TP63_ENST00000440651.2_Missense_Mutation_p.S365L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.S365L(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGCAAGTTTCGGACAGTACA	0.537										HNSCC(45;0.13)																																						3	Substitution - Missense(3)	skin(2)|kidney(1)											129	122	124					3																	189586470		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1094C>T	3.37:g.189586470C>T	ENSP00000264731:p.Ser365Leu		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021890	0.54576	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99660	-5.98;-6.23;-6.22;-6.22;-5.96;-6.32;-5.98;-6.24;-6.22;-6.21;-6.32;-5.96	6.03	6.03	0.97812	.	0.057185	0.64402	D	0.000001	D	0.97942	0.9323	N	0.14661	0.345	0.80722	D	1	P;B;B;B;P;P;B;B;P;P	0.38473	0.596;0.003;0.003;0.002;0.464;0.464;0.212;0.005;0.5;0.633	B;B;B;B;B;B;B;B;B;B	0.38156	0.266;0.003;0.002;0.001;0.132;0.183;0.062;0.003;0.089;0.183	D	0.98824	1.0748	9	.	.	.	-4.2957	19.5548	0.95338	0.0:1.0:0.0:0.0	.	186;365;365;271;271;271;271;365;365;365	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	L	365;365;365;365;365;280;271;271;271;271;186;271	ENSP00000264731:S365L;ENSP00000407144:S365L;ENSP00000317510:S365L;ENSP00000376253:S365L;ENSP00000394337:S365L;ENSP00000371495:S280L;ENSP00000346614:S271L;ENSP00000392488:S271L;ENSP00000376256:S271L;ENSP00000376254:S271L;ENSP00000387839:S186L;ENSP00000389485:S271L	.	S	+	2	0	TP63	191069164	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.593000	0.54001	2.854000	0.98071	0.655000	0.94253	TCG		0.537	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		T	189586470	C	T	189586470	3	4	633	1	0	0	0	0	1	0	0	0	16397	893	31	1	1170	1	TP63	3	189586470	Missense_Mutation	SNP	C	TCGA-EU-5904-01A-11D-1669-08	140526507	189586470	8435960	12	34436											
GPR78	27201	broad.mit.edu;hgsc.bcm.edu	37	4	8583134	8583134	+	Missense_Mutation	SNP	T	T	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr4:8583134T>A	ENST00000382487.4	+	1	842	c.425T>A	c.(424-426)cTt>cAt	p.L142H	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	142					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L142H(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GGCGCTGCACTTGGCTGCTCG	0.711																																																1	Substitution - Missense(1)	kidney(1)											10	12	11					4																	8583134		2171	4254	6425	SO:0001583	missense	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.425T>A	4.37:g.8583134T>A	ENSP00000371927:p.Leu142His		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.535900	0.27475	.	.	ENSG00000155269	ENST00000382487	T	0.44881	0.91	2.53	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	0.457587	0.17015	U	0.190338	T	0.51007	0.1649	L	0.52905	1.665	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.38134	-0.9675	10	0.87932	D	0	.	3.8196	0.08830	0.2165:0.0:0.2231:0.5603	.	142	Q96P69	GPR78_HUMAN	H	142	ENSP00000371927:L142H	ENSP00000371927:L142H	L	+	2	0	GPR78	8634034	0.056000	0.20664	0.000000	0.03702	0.004000	0.04260	2.368000	0.44222	-0.067000	0.12976	0.260000	0.18958	CTT		0.711	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			A	8583134	T	A	8583134	3	1	633	1	0	0	0	0	1	0	0	0	6712	1609	56	5	427	5	GPR78	4	8583134	Missense_Mutation	SNP	T	TCGA-EU-5904-01A-11D-1669-08		8583134	182571142	13	34437											
TAPT1	202018	broad.mit.edu;hgsc.bcm.edu	37	4	16165153	16165153	+	Silent	SNP	G	G	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr4:16165153G>T	ENST00000405303.2	-	14	1565	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	TAPT1_ENST00000304584.8_3'UTR|TAPT1_ENST00000399920.3_Silent_p.S383S	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	494					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)	p.S494S(1)		NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTTCTTCTGTGGAAAGGCCTG	0.333																																																1	Substitution - coding silent(1)	kidney(1)											55	51	52					4																	16165153		1843	4110	5953	SO:0001819	synonymous_variant	202018			AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1482C>A	4.37:g.16165153G>T			Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	CCDS47030.1																																																																																				0.333	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		T	16165153	G	T	16165153	2	4	633	1	0	0	0	0	0	0	0	1	15559	1335	47	4		4	TAPT1	4	16165153	Silent	SNP	G	TCGA-EU-5904-01A-11D-1669-08	7582019	16165153	174989123	14	34438											
NCAPG	64151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	17819025	17819026	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr4:17819025_17819026insAA	ENST00000251496.2	+	6	1093_1094	c.917_918insAA	c.(916-921)tcaatafs	p.I307fs		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	307					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GCCTTGTTTTCAATAACTCCTC	0.391																																																0																																										SO:0001589	frameshift_variant	64151			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.918_919dupAA	4.37:g.17819026_17819027dupAA	ENSP00000251496:p.Ile307fs		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Frame_Shift_Ins	INS	ENST00000251496.2	37	CCDS3424.1																																																																																				0.391	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		AA	17819026	-	AA	17819025	7	5	633	1	0	1	1	0	0	0	0	0	10209	838	29	0	939	0	NCAPG	4	17819025	Frame_Shift_Ins	INS	-	TCGA-EU-5904-01A-11D-1669-08	1653872	17819025	173335251	15	34439											
PCDHGA5	56110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140745223	140745223	+	Silent	SNP	A	A	G	rs528991261		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr5:140745223A>G	ENST00000518069.1	+	1	1326	c.1326A>G	c.(1324-1326)gtA>gtG	p.V442V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	442	Cadherin 4. {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)	p.V442V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGAAAGTAGCAGACGTTA	0.478																																																1	Substitution - coding silent(1)	kidney(1)											106	111	109					5																	140745223		1919	4118	6037	SO:0001819	synonymous_variant	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1326A>G	5.37:g.140745223A>G			Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	CCDS54925.1																																																																																				0.478	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		G	140745223	A	G	140745223	2	3	633	1	0	0	0	0	0	0	0	1	11559	407	15	3		3	PCDHGA5	5	140745223	Silent	SNP	A	TCGA-EU-5904-01A-11D-1669-08		140745223	40170037	16	34440											
ALDH5A1	7915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24528317	24528317	+	Silent	SNP	T	T	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr6:24528317T>C	ENST00000357578.3	+	8	1411	c.1266T>C	c.(1264-1266)ccT>ccC	p.P422P	ALDH5A1_ENST00000348925.2_Silent_p.P435P|ALDH5A1_ENST00000546278.1_Silent_p.P334P|ALDH5A1_ENST00000491546.1_Silent_p.P394P	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	422					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.P435P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TCTTTGAGCCTACCCTGCTGT	0.502																																																2	Substitution - coding silent(2)	kidney(1)|endometrium(1)											103	96	98					6																	24528317		2203	4300	6503	SO:0001819	synonymous_variant	7915			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1266T>C	6.37:g.24528317T>C			B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	CCDS4555.1																																																																																				0.502	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			C	24528317	T	C	24528317	2	2	633	1	0	0	0	0	0	0	0	1	502	1509	53	3		3	ALDH5A1	6	24528317	Silent	SNP	T	TCGA-EU-5904-01A-11D-1669-08		24528317	146586750	17	34441											
RPP21	79897	hgsc.bcm.edu	37	6	30313340	30313340	+	Missense_Mutation	SNP	G	G	C	rs6986	byFrequency	TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr6:30313340G>C	ENST00000442966.2	+	3	244	c.231G>C	c.(229-231)caG>caC	p.Q77H	RPP21_ENST00000436442.2_Missense_Mutation_p.Q77H|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.Q338H|RPP21_ENST00000428040.2_Missense_Mutation_p.Q100H|RPP21_ENST00000433076.2_Missense_Mutation_p.Q85H|RPP21_ENST00000466327.1_3'UTR			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	77			Q -> H (in dbSNP:rs6986). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						CCTGCACCCAGCGCCAGAGAC	0.697													G|||	1302	0.259984	0.2905	0.1816	5008	,	,		7455	0.1667		0.2545	False		,,,				2504	0.3763															0								G	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	952,2048		158,636,706	14	9	11		1278,255,231,231	4.7	1	6	dbSNP_52	11	1197,4197		151,895,1651	yes	missense,missense,missense,missense	RPP21,TRIM39-RPP21	NM_001199119.1,NM_001199120.1,NM_001199121.1,NM_024839.2	24,24,24,24	309,1531,2357	CC,CG,GG		22.1913,31.7333,25.6016	,,,	426/504,85/163,77/145,77/155	30313340	2149,6245	1500	2697	4197	SO:0001583	missense	202658			AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"chromosome 6 open reading frame 135", "ribonuclease P 21kDa subunit"	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.231G>C	6.37:g.30313340G>C	ENSP00000403833:p.Gln77His		A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Silent	SNP	ENST00000442966.2	37	CCDS4679.1	489	0.2239010989010989	134	0.27235772357723576	69	0.19060773480662985	93	0.16258741258741258	193	0.2546174142480211	G	16.57	3.159557	0.57368	0.317333	0.221913	ENSG00000204599;ENSG00000248167;ENSG00000241370;ENSG00000241370;ENSG00000241370;ENSG00000241370	ENST00000412529;ENST00000513556;ENST00000433076;ENST00000442966;ENST00000428040;ENST00000436442	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.53	4.66	0.58398	.	0.397524	0.25564	N	0.029811	T	0.36771	0.0979	N	0.25890	0.77	0.31574	P	0.655968	D;B;B;B	0.69078	0.997;0.106;0.245;0.004	D;B;B;B	0.71870	0.975;0.019;0.048;0.004	T	0.46707	-0.9172	9	0.87932	D	0	-5.2369	10.8448	0.46737	0.0876:0.0:0.9124:0.0	rs6986;rs1137108;rs2516690;rs3179290;rs3200884;rs11557496;rs17341450;rs17353244;rs17362218;rs6986	340;77;77;100	F5H2V3;Q9H633-3;Q9H633;Q9H633-2	.;.;RPP21_HUMAN;.	H	340;338;85;77;100;77	ENSP00000424048:Q338H;ENSP00000409799:Q85H;ENSP00000403833:Q77H;ENSP00000394320:Q100H;ENSP00000397778:Q77H	ENSP00000394320:Q100H	Q	+	3	2	RPP21;TRIM39-RPP21;TRIM39	30421319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.966000	0.56795	1.466000	0.48025	0.650000	0.86243	CAG		0.697	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		C	30313340	G	C	30313340	3	2	633	1	0	0	0	0	1	0	0	0	13616	962	34	4	241	4	RPP21	6	30313340	Missense_Mutation	SNP	G	TCGA-EU-5904-01A-11D-1669-08	5785023	30313340	140801727	18	34442											
CNTLN	54875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	17416024	17416024	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr9:17416024T>A	ENST00000380647.3	+	18	3035	c.2951T>A	c.(2950-2952)tTa>tAa	p.L984*	CNTLN_ENST00000425824.1_Nonsense_Mutation_p.L984*|CNTLN_ENST00000262360.5_Nonsense_Mutation_p.L984*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	984					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L984*(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATTATTTTATTACGAGAACGG	0.274																																																1	Substitution - Nonsense(1)	kidney(1)											64	61	62					9																	17416024		1809	4074	5883	SO:0001587	stop_gained	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2951T>A	9.37:g.17416024T>A	ENSP00000370021:p.Leu984*		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Nonsense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	T	41	9.070684	0.99055	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0133	0.58743	0.0:0.0:0.0:1.0	.	.	.	.	X	984	.	ENSP00000262360:L984X	L	+	2	0	CNTLN	17406024	1.000000	0.71417	0.990000	0.47175	0.729000	0.41735	4.497000	0.60367	1.947000	0.56498	0.460000	0.39030	TTA		0.274	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		A	17416024	T	A	17416024	4	1	633	1	0	0	0	0	0	1	0	0	3641	1764	61	5	3051	5	CNTLN	9	17416024	Nonsense_Mutation	SNP	T	TCGA-EU-5904-01A-11D-1669-08		17416024	123797407	19	34443											
EHMT1	79813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140671279	140671279	+	Silent	SNP	C	C	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr9:140671279C>T	ENST00000460843.1	+	12	2028	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	EHMT1_ENST00000462484.1_Silent_p.A667A|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.A636A	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	667					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.A636A(1)|p.A667A(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGGGCAGGGCCGACACCACAA	0.592																																																2	Substitution - coding silent(2)	kidney(2)											49	45	46					9																	140671279		2203	4300	6503	SO:0001819	synonymous_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2001C>T	9.37:g.140671279C>T			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	CCDS7050.2																																																																																				0.592	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		T	140671279	C	T	140671279	2	4	633	1	0	0	0	0	0	0	0	1	4985	639	23	1		1	EHMT1	9	140671279	Silent	SNP	C	TCGA-EU-5904-01A-11D-1669-08	123255255	140671279	542152	20	34444											
DIP2C	22982	broad.mit.edu;ucsc.edu	37	10	409240	409240	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr10:409240A>T	ENST00000280886.6	-	21	2576	c.2489T>A	c.(2488-2490)tTc>tAc	p.F830Y	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.F151Y	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	830						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.F830Y(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGTCACCGAGAACACGGCTAT	0.627																																																1	Substitution - Missense(1)	kidney(1)											146	99	115					10																	409240		2203	4300	6503	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2489T>A	10.37:g.409240A>T	ENSP00000280886:p.Phe830Tyr		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.946165	0.92593	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.63096	2.86;-0.02	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83161	0.5194	M	0.90542	3.125	0.80722	D	1	D;D	0.71674	0.998;0.989	D;D	0.83275	0.996;0.925	D	0.86736	0.1951	10	0.87932	D	0	-32.2904	16.3486	0.83191	1.0:0.0:0.0:0.0	.	151;830	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	Y	830;151	ENSP00000280886:F830Y;ENSP00000443826:F151Y	ENSP00000280886:F830Y	F	-	2	0	DIP2C	399240	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	9.331000	0.96430	2.259000	0.74868	0.528000	0.53228	TTC		0.627	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	409240	A	T	409240	3	4	633	1	0	0	0	0	1	0	0	0	4531	246	9	5	2249	5	DIP2C	10	409240	Missense_Mutation	SNP	A	TCGA-EU-5904-01A-11D-1669-08		409240	135125507	21	34445											
APBB1IP	54518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26789847	26789847	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr10:26789847A>T	ENST00000376236.4	+	5	715	c.260A>T	c.(259-261)aAa>aTa	p.K87I	APBB1IP_ENST00000356785.4_Missense_Mutation_p.K87I	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	87					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.K87I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAGGCACAGAAAGAGTCCTTG	0.458																																																1	Substitution - Missense(1)	kidney(1)											155	136	143					10																	26789847		2203	4300	6503	SO:0001583	missense	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.260A>T	10.37:g.26789847A>T	ENSP00000365411:p.Lys87Ile		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011975	0.54468	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.34472	1.36	5.84	3.49	0.39957	.	0.435227	0.29307	N	0.012535	T	0.46034	0.1372	L	0.44542	1.39	0.30366	N	0.783325	D;D;D	0.71674	0.966;0.987;0.998	P;P;D	0.65874	0.641;0.871;0.939	T	0.46442	-0.9191	10	0.56958	D	0.05	.	8.5787	0.33614	0.8435:0.0:0.1565:0.0	.	87;87;87	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	I	87	ENSP00000365411:K87I	ENSP00000349237:K87I	K	+	2	0	APBB1IP	26829853	0.998000	0.40836	0.991000	0.47740	0.835000	0.47333	3.124000	0.50461	0.458000	0.26988	0.460000	0.39030	AAA		0.458	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		T	26789847	A	T	26789847	3	4	633	1	0	0	0	0	1	0	0	0	760	14	1	5	270	5	APBB1IP	10	26789847	Missense_Mutation	SNP	A	TCGA-EU-5904-01A-11D-1669-08	26380607	26789847	108744900	22	34446											
NRP1	8829	broad.mit.edu;hgsc.bcm.edu	37	10	33619643	33619643	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr10:33619643C>A	ENST00000265371.4	-	3	766	c.241G>T	c.(241-243)Gac>Tac	p.D81Y	NRP1_ENST00000432372.2_Missense_Mutation_p.D81Y|NRP1_ENST00000374822.4_Missense_Mutation_p.D81Y|NRP1_ENST00000395995.1_Missense_Mutation_p.D81Y|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374867.2_Missense_Mutation_p.D81Y|NRP1_ENST00000374816.3_Missense_Mutation_p.D81Y|NRP1_ENST00000374821.5_Missense_Mutation_p.D81Y|NRP1_ENST00000374823.5_Missense_Mutation_p.D81Y			O14786	NRP1_HUMAN	neuropilin 1	81	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D81Y(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TACTTGCAGTCTCTGTCCTCC	0.478																																					Melanoma(104;886 1489 44640 45944 51153)											1	Substitution - Missense(1)	kidney(1)											120	103	109					10																	33619643		2203	4300	6503	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.241G>T	10.37:g.33619643C>A	ENSP00000265371:p.Asp81Tyr		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879745	0.91740	.	.	ENSG00000099250	ENST00000265371;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816	T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.99	5.99	0.97316	CUB (5);	0.047246	0.85682	D	0.000000	T	0.57562	0.2062	L	0.52126	1.63	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.986;0.998;0.999;0.999;0.999	D;D;D;P;D;D;D;D	0.71184	0.953;0.967;0.967;0.774;0.932;0.972;0.967;0.953	T	0.55630	-0.8111	10	0.87932	D	0	-46.1411	20.4777	0.99188	0.0:1.0:0.0:0.0	.	81;81;81;81;81;81;81;81	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.	Y	81	ENSP00000265371:D81Y;ENSP00000364001:D81Y;ENSP00000379317:D81Y;ENSP00000363955:D81Y;ENSP00000363954:D81Y;ENSP00000363956:D81Y;ENSP00000363949:D81Y	ENSP00000265371:D81Y	D	-	1	0	NRP1	33659649	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.379000	0.79691	2.840000	0.97914	0.655000	0.94253	GAC		0.478	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			A	33619643	C	A	33619643	3	1	633	1	0	0	0	0	1	0	0	0	10662	913	32	4	2605	4	NRP1	10	33619643	Missense_Mutation	SNP	C	TCGA-EU-5904-01A-11D-1669-08	6829796	33619643	101915104	23	34447											
SC5DL	6309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	121175086	121175086	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr11:121175086A>T	ENST00000392789.2	+	3	464	c.227A>T	c.(226-228)gAg>gTg	p.E76V	SC5D_ENST00000264027.4_Missense_Mutation_p.E76V|SC5D_ENST00000534230.1_Missense_Mutation_p.E76V	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	76					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)	p.E76V(1)									GTCCGTCGAGAGATTAAGTTT	0.353																																																1	Substitution - Missense(1)	kidney(1)											127	122	124					11																	121175086		2203	4299	6502	SO:0001583	missense	6309				CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"Fatty acid hydroxylase domain containing"	10547	protein-coding gene	gene with protein product	"lathosterol oxidase"	602286	"sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.227A>T	11.37:g.121175086A>T	ENSP00000376539:p.Glu76Val		O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.923137	0.92319	.	.	ENSG00000109929	ENST00000264027;ENST00000527762;ENST00000534230;ENST00000392789	D;D;D;D	0.88896	-1.96;-2.03;-2.44;-1.96	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.96377	0.8818	H	0.96080	3.765	0.58432	D	0.999994	D;D	0.89917	0.973;1.0	P;D	0.87578	0.841;0.998	D	0.97514	1.0068	10	0.87932	D	0	-14.6769	15.6232	0.76824	1.0:0.0:0.0:0.0	.	76;76	O75845;E9PQ91	SC5D_HUMAN;.	V	76;83;76;76	ENSP00000264027:E76V;ENSP00000436290:E83V;ENSP00000432550:E76V;ENSP00000376539:E76V	ENSP00000264027:E76V	E	+	2	0	SC5DL	120680296	1.000000	0.71417	0.994000	0.49952	0.951000	0.60555	9.300000	0.96151	2.326000	0.78906	0.533000	0.62120	GAG		0.353	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		T	121175086	A	T	121175086	3	4	633	1	0	0	0	0	1	0	0	0	13872	304	11	5	233	5	SC5DL	11	121175086	Missense_Mutation	SNP	A	TCGA-EU-5904-01A-11D-1669-08		121175086	13831430	24	34448											
KLRG1	10219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9144837	9144837	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr12:9144837G>A	ENST00000266551.4	+	2	133	c.118G>A	c.(118-120)Gca>Aca	p.A40T	KLRG1_ENST00000356986.3_Missense_Mutation_p.A40T|KLRG1_ENST00000538029.1_Intron|RP11-259O18.4_ENST00000545706.1_RNA	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	40					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.A40T(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TTGCCTTGTGGCAATAGCTTT	0.448																																																1	Substitution - Missense(1)	kidney(1)											241	219	227					12																	9144837		2203	4300	6503	SO:0001583	missense	10219			AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"Killer cell lectin-like receptors", "C-type lectin domain containing"	6380	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member A"	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.118G>A	12.37:g.9144837G>A	ENSP00000266551:p.Ala40Thr		B7ZAM2|O43198|O75613	Missense_Mutation	SNP	ENST00000266551.4	37		.	.	.	.	.	.	.	.	.	.	G	9.523	1.108734	0.20714	.	.	ENSG00000139187	ENST00000356986;ENST00000266551	T;T	0.16743	2.32;2.32	3.69	1.83	0.25207	.	0.617862	0.13731	N	0.366711	T	0.09379	0.0231	N	0.24115	0.695	0.09310	N	1	B;P	0.36392	0.416;0.551	B;B	0.34779	0.092;0.189	T	0.27938	-1.0059	10	0.23302	T	0.38	-0.772	5.7323	0.18047	0.2317:0.0:0.7683:0.0	.	40;40	Q96E93;Q96E93-2	KLRG1_HUMAN;.	T	40	ENSP00000349477:A40T;ENSP00000266551:A40T	ENSP00000266551:A40T	A	+	1	0	KLRG1	9036104	0.625000	0.27111	0.121000	0.21740	0.627000	0.37826	0.952000	0.29149	0.518000	0.28383	0.462000	0.41574	GCA		0.448	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810		A	9144837	G	A	9144837	3	1	633	1	0	0	0	0	1	0	0	0	8423	1203	42	2	124	2	KLRG1	12	9144837	Missense_Mutation	SNP	G	TCGA-EU-5904-01A-11D-1669-08		9144837	124707058	25	34449											
C12orf41	54934	broad.mit.edu;ucsc.edu	37	12	49073492	49073492	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr12:49073492C>A	ENST00000420613.2	-	3	423	c.376G>T	c.(376-378)Gag>Tag	p.E126*	KANSL2_ENST00000553086.1_Nonsense_Mutation_p.E126*|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000550347.1_Nonsense_Mutation_p.E309*	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	126					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)		p.E126*(2)									GACCCCAGCTCTGTCTTAGCA	0.507																																																2	Substitution - Nonsense(2)	kidney(2)											52	49	50					12																	49073492		1916	4140	6056	SO:0001587	stop_gained	0			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.376G>T	12.37:g.49073492C>A	ENSP00000415436:p.Glu126*		Q8N3B5|Q96CV0|Q9NX51	Nonsense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	37	6.188325	0.97362	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550931	.	.	.	5.95	5.95	0.96441	.	0.048243	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7711	19.1412	0.93446	0.0:1.0:0.0:0.0	.	.	.	.	X	309;126;126;63	.	.	E	-	1	0	C12orf41	47359759	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.003000	0.76310	2.811000	0.96726	0.655000	0.94253	GAG		0.507	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		A	49073492	C	A	49073492	4	1	633	1	0	0	0	0	0	1	0	0	1689	922	32	4	1134	4	C12orf41	12	49073492	Nonsense_Mutation	SNP	C	TCGA-EU-5904-01A-11D-1669-08	39928655	49073492	84778403	26	34450											
TSFM	10677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58190297	58190297	+	IGR	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr12:58190297G>A	ENST00000257861.3	-	0	2891				TSFM_ENST00000540550.1_3'UTR|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000454289.3_Silent_p.Q303Q|TSFM_ENST00000350762.5_Silent_p.Q263Q|TSFM_ENST00000323833.8_Silent_p.Q324Q	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.Q303Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGCAGCCTCAGGGGGTGTCGG	0.537																																																1	Substitution - coding silent(1)	kidney(1)											63	57	59					12																	58190297		2203	4300	6503	SO:0001628	intergenic_variant	10102			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461		12.37:g.58190297G>A			B2RAU7|Q2NKM9	Silent	SNP	ENST00000257861.3	37	CCDS8959.1																																																																																				0.537	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		A	58190297	G	A	58190297	1	1	633	0	1	0	0	0	0	0	0	0	16620	991	35	2		2	TSFM	12	58190297	IGR	SNP	G	TCGA-EU-5904-01A-11D-1669-08	9116805	58190297	75661598	27	34451											
PPP1R12A	4659	hgsc.bcm.edu;ucsc.edu	37	12	80182470	80182471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr12:80182470_80182471insT	ENST00000450142.2	-	21	3025_3026	c.2759_2760insA	c.(2758-2760)tacfs	p.Y920fs	PPP1R12A_ENST00000546369.1_Frame_Shift_Ins_p.Y833fs|PPP1R12A_ENST00000437004.2_Frame_Shift_Ins_p.Y920fs|PPP1R12A_ENST00000550107.1_Frame_Shift_Ins_p.Y864fs|PPP1R12A_ENST00000261207.5_Frame_Shift_Ins_p.Y920fs	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	920					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GCCTGCTGCTGTAAGGTTTTCT	0.347																																																0																																										SO:0001589	frameshift_variant	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2760dupA	12.37:g.80182471_80182471dupT	ENSP00000389168:p.Tyr920fs		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Frame_Shift_Del	INS	ENST00000450142.2	37	CCDS44947.1																																																																																				0.347	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		T	80182471	-	T	80182470	7	5	633	1	0	1	1	0	0	0	0	0	12359	1372	48	0	352	0	PPP1R12A	12	80182470	Frame_Shift_Ins	INS	-	TCGA-EU-5904-01A-11D-1669-08	21992173	80182470	53669425	28	34452											
RCBTB2	1102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	49086880	49086880	+	Silent	SNP	T	T	C	rs199638083		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr13:49086880T>C	ENST00000344532.3	-	7	924	c.501A>G	c.(499-501)ctA>ctG	p.L167L	RCBTB2_ENST00000430805.2_Silent_p.L172L|RCBTB2_ENST00000544904.1_Silent_p.L143L|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	167					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.L167L(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CATCAGATGTTAGCACCAAAG	0.368																																																1	Substitution - coding silent(1)	kidney(1)											129	118	122					13																	49086880		2203	4300	6503	SO:0001819	synonymous_variant	1102			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.501A>G	13.37:g.49086880T>C			B2RDW8	Silent	SNP	ENST00000344532.3	37	CCDS9411.1																																																																																				0.368	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		C	49086880	T	C	49086880	2	2	633	1	0	0	0	0	0	0	0	1	13178	1741	61	3		3	RCBTB2	13	49086880	Silent	SNP	T	TCGA-EU-5904-01A-11D-1669-08		49086880	66082998	29	34453											
MYO16	23026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	109817265	109817265	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr13:109817265G>A	ENST00000357550.2	+	32	5156	c.5115G>A	c.(5113-5115)atG>atA	p.M1705I	MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000356711.2_Missense_Mutation_p.M1705I	NM_001198950.1	NP_001185879.1			myosin XVI									p.M1705I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAACTAACATGAACATAAGTA	0.284																																																1	Substitution - Missense(1)	kidney(1)											43	43	43					13																	109817265		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5115G>A	13.37:g.109817265G>A	ENSP00000350160:p.Met1705Ile			Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289250	0.23478	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.79454	-1.27;-1.27	5.19	5.19	0.71726	.	0.180535	0.27143	U	0.020727	T	0.66317	0.2777	L	0.28274	0.84	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.60239	-0.7302	9	.	.	.	.	15.8261	0.78709	0.0:0.0:1.0:0.0	.	1705	Q9Y6X6	MYO16_HUMAN	I	1705	ENSP00000349145:M1705I;ENSP00000350160:M1705I	.	M	+	3	0	MYO16	108615266	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.757000	0.47557	2.579000	0.87056	0.557000	0.71058	ATG		0.284	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		A	109817265	G	A	109817265	3	1	633	1	0	0	0	0	1	0	0	0	10066	1290	45	2	5241	2	MYO16	13	109817265	Missense_Mutation	SNP	G	TCGA-EU-5904-01A-11D-1669-08	60730385	109817265	5352613	30	34454											
LRP10	26020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23344975	23344975	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr14:23344975C>G	ENST00000359591.4	+	5	1509	c.818C>G	c.(817-819)gCt>gGt	p.A273G	LRP10_ENST00000546834.1_Missense_Mutation_p.A273G	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	273	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A273G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AATGGCAAGGCTGTCACTGTG	0.582																																																1	Substitution - Missense(1)	kidney(1)											94	77	83					14																	23344975		2203	4300	6503	SO:0001583	missense	26020			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.818C>G	14.37:g.23344975C>G	ENSP00000352601:p.Ala273Gly		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466362	0.63625	.	.	ENSG00000197324	ENST00000359591;ENST00000546834	T;T	0.18810	2.19;2.19	5.97	5.97	0.96955	CUB (5);	0.161366	0.56097	D	0.000030	T	0.32763	0.0840	L	0.55481	1.735	0.37692	D	0.923875	D	0.61697	0.99	P	0.54759	0.76	T	0.04579	-1.0941	10	0.32370	T	0.25	-8.6813	13.1958	0.59738	0.0:0.9238:0.0:0.0762	.	273	Q7Z4F1	LRP10_HUMAN	G	273	ENSP00000352601:A273G;ENSP00000447559:A273G	ENSP00000352601:A273G	A	+	2	0	LRP10	22414815	0.035000	0.19736	1.000000	0.80357	0.994000	0.84299	2.846000	0.48262	2.837000	0.97791	0.655000	0.94253	GCT		0.582	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			G	23344975	C	G	23344975	3	3	633	1	0	0	0	0	1	0	0	0	8954	797	28	4	836	4	LRP10	14	23344975	Missense_Mutation	SNP	C	TCGA-EU-5904-01A-11D-1669-08		23344975	84004565	31	34455											
MLH3	27030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75515759	75515759	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr14:75515759C>G	ENST00000556740.1	-	1	635	c.600G>C	c.(598-600)caG>caC	p.Q200H	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.Q200H|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.Q200H|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.Q200H			Q9UHC1	MLH3_HUMAN	mutL homolog 3	200					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.Q200H(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTTTAGGGAGCTGAAGAACCA	0.373								Mismatch excision repair (MMR)																																								2	Substitution - Missense(2)	kidney(2)											46	45	45					14																	75515759		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.600G>C	14.37:g.75515759C>G	ENSP00000452316:p.Gln200His		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001474	0.35320	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.91	-2.85	0.05734	Ribosomal protein S5 domain 2-type fold (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.82719	0.5098	L	0.39514	1.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78846	-0.2043	10	0.59425	D	0.04	-8.0414	13.7491	0.62897	0.0:0.5399:0.0:0.4601	.	200;200	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	H	200	ENSP00000348020:Q200H;ENSP00000238662:Q200H;ENSP00000451540:Q200H;ENSP00000452316:Q200H	ENSP00000238662:Q200H	Q	-	3	2	MLH3	74585512	0.974000	0.33945	0.587000	0.28692	0.951000	0.60555	0.243000	0.18106	-1.383000	0.02106	-0.797000	0.03246	CAG		0.373	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		G	75515759	C	G	75515759	3	3	633	1	0	0	0	0	1	0	0	0	9620	796	28	4	3809	4	MLH3	14	75515759	Missense_Mutation	SNP	C	TCGA-EU-5904-01A-11D-1669-08	52170784	75515759	31833781	32	34456											
PPP4R4	57718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94741786	94741786	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr14:94741786C>T	ENST00000304338.3	+	24	2679	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	842					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.S842F(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCGAGTACTTCCCGTGGGACA	0.448																																																1	Substitution - Missense(1)	kidney(1)											212	197	202					14																	94741786		2203	4300	6503	SO:0001583	missense	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2525C>T	14.37:g.94741786C>T	ENSP00000305924:p.Ser842Phe		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503603	0.85176	.	.	ENSG00000119698	ENST00000304338	.	.	.	6.02	6.02	0.97574	.	0.133902	0.51477	D	0.000082	T	0.66538	0.2799	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	P	0.59487	0.858	T	0.66799	-0.5832	9	0.66056	D	0.02	-11.5946	20.5373	0.99239	0.0:1.0:0.0:0.0	.	842	Q6NUP7	PP4R4_HUMAN	F	842	.	ENSP00000305924:S842F	S	+	2	0	PPP4R4	93811539	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.457000	0.66672	2.857000	0.98124	0.650000	0.86243	TCC		0.448	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		T	94741786	C	T	94741786	3	4	633	1	0	0	0	0	1	0	0	0	12410	855	30	2	2692	2	PPP4R4	14	94741786	Missense_Mutation	SNP	C	TCGA-EU-5904-01A-11D-1669-08	19226027	94741786	12607754	33	34457											
KIAA1199	57214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	81172060	81172060	+	Missense_Mutation	SNP	A	A	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr15:81172060A>G	ENST00000394685.3	+	5	664	c.245A>G	c.(244-246)aAg>aGg	p.K82R	KIAA1199_ENST00000220244.3_Missense_Mutation_p.K82R|KIAA1199_ENST00000356249.5_Missense_Mutation_p.K82R			Q8WUJ3	CEMIP_HUMAN		82	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.K82R(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTTCAGGCAAGCTGGTCATT	0.527																																																1	Substitution - Missense(1)	kidney(1)											77	69	72					15																	81172060		2203	4300	6503	SO:0001583	missense	57214																														ENST00000394685.3:c.245A>G	15.37:g.81172060A>G	ENSP00000378177:p.Lys82Arg		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	A	9.941	1.217532	0.22373	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	D;D;D	0.89485	-2.52;-2.52;-2.52	6.03	4.92	0.64577	G8 domain (2);	0.118551	0.53938	N	0.000052	D	0.91865	0.7425	L	0.53617	1.68	0.44789	D	0.997792	P	0.37781	0.608	P	0.59357	0.856	D	0.88829	0.3304	10	0.25751	T	0.34	-27.1059	11.8835	0.52589	0.9326:0.0:0.0674:0.0	.	82	Q8WUJ3	K1199_HUMAN	R	82	ENSP00000220244:K82R;ENSP00000378177:K82R;ENSP00000348583:K82R	ENSP00000220244:K82R	K	+	2	0	KIAA1199	78959115	1.000000	0.71417	0.997000	0.53966	0.037000	0.13140	5.328000	0.65887	1.108000	0.41662	0.533000	0.62120	AAG		0.527	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			G	81172060	A	G	81172060	3	3	633	1	0	0	0	0	1	0	0	0	8215	72	3	3	255	3	KIAA1199	15	81172060	Missense_Mutation	SNP	A	TCGA-EU-5904-01A-11D-1669-08		81172060	21359332	34	34458											
BTBD12	84464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3658538	3658538	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr16:3658538A>T	ENST00000294008.3	-	2	1068	c.428T>A	c.(427-429)gTg>gAg	p.V143E		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	143	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.V143E(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGAGGCAAGCACACCCCCCTC	0.552								Direct reversal of damage																																								1	Substitution - Missense(1)	kidney(1)											102	99	100					16																	3658538		2197	4300	6497	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.428T>A	16.37:g.3658538A>T	ENSP00000294008:p.Val143Glu		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528344	0.64860	.	.	ENSG00000188827	ENST00000294008	T	0.01725	4.67	5.53	-0.519	0.11939	.	1.022250	0.07842	N	0.963246	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	D	0.58620	0.983	P	0.54100	0.742	T	0.54248	-0.8322	10	0.72032	D	0.01	.	8.6206	0.33859	0.5599:0.0:0.4401:0.0	.	143	Q8IY92	SLX4_HUMAN	E	143	ENSP00000294008:V143E	ENSP00000294008:V143E	V	-	2	0	SLX4	3598539	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.863000	0.27913	-0.078000	0.12730	0.528000	0.53228	GTG		0.552	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		T	3658538	A	T	3658538	3	4	633	1	0	0	0	0	1	0	0	0	1542	159	6	5	5132	5	BTBD12	16	3658538	Missense_Mutation	SNP	A	TCGA-EU-5904-01A-11D-1669-08		3658538	86696215	35	34459											
GLYR1	84656	hgsc.bcm.edu;ucsc.edu	37	16	4867698	4867698	+	Splice_Site	DEL	C	C	-			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr16:4867698delC	ENST00000321919.9	-	10	883	c.807delG	c.(805-807)aag>aa	p.K269fs	GLYR1_ENST00000381983.3_Splice_Site_p.K252fs|GLYR1_ENST00000436648.5_Splice_Site_p.K188fs|GLYR1_ENST00000591451.1_Splice_Site_p.K269fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	269					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AAAATCCTATCCTGAAACAGA	0.507																																																0													118	107	111					16																	4867698		2197	4300	6497	SO:0001630	splice_region_variant	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.807-1G>-	16.37:g.4867698delC			B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Del	DEL	ENST00000321919.9	37	CCDS10524.1																																																																																				0.507	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569	Frame_Shift_Del	-	4867698	C	-	4867698	8	5	633	1	0	1	0	1	0	0	1	0	6485	869	30	0	882	0	GLYR1	16	4867698	Splice_Site	DEL	C	TCGA-EU-5904-01A-11D-1669-08	1209160	4867698	85487055	36	34460											
HSF4	3299	broad.mit.edu	37	16	67199696	67199696	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr16:67199696C>A	ENST00000521374.1	+	3	307	c.307C>A	c.(307-309)Cac>Aac	p.H103N	HSF4_ENST00000264009.8_Missense_Mutation_p.H103N|HSF4_ENST00000584272.1_Missense_Mutation_p.H103N|HSF4_ENST00000421453.1_Missense_Mutation_p.H103N			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	103					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.H103N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CGAGTTCCAGCACCCGAGCTT	0.706																																																1	Substitution - Missense(1)	kidney(1)											11	15	14					16																	67199696		1978	4151	6129	SO:0001583	missense	3299			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.307C>A	16.37:g.67199696C>A	ENSP00000430947:p.His103Asn		Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997273	0.93167	.	.	ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.86	4.86	0.63082	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	N	0.20328	0.56	0.80722	D	1	D;B	0.71674	0.998;0.349	D;B	0.79108	0.992;0.153	D	0.88322	0.2963	10	0.12766	T	0.61	-2.2415	16.7364	0.85448	0.0:1.0:0.0:0.0	.	103;103	Q9ULV5-2;Q9ULV5	.;HSF4_HUMAN	N	103;103;103;103;61	ENSP00000408815:H103N;ENSP00000264009:H103N;ENSP00000428978:H103N;ENSP00000430947:H103N;ENSP00000430299:H61N	ENSP00000264009:H103N	H	+	1	0	HSF4	65757197	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.490000	0.81461	2.521000	0.84997	0.561000	0.74099	CAC		0.706	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		A	67199696	C	A	67199696	3	1	633	1	0	0	0	0	1	0	0	0	7400	710	25	4	317	4	HSF4	16	67199696	Missense_Mutation	SNP	C	TCGA-EU-5904-01A-11D-1669-08	62331998	67199696	23155057	37	34461											
CIRH1A	84916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69199341	69199341	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr16:69199341C>G	ENST00000314423.7	+	15	1922	c.1745C>G	c.(1744-1746)cCt>cGt	p.P582R	CIRH1A_ENST00000563094.1_Missense_Mutation_p.P582R|CIRH1A_ENST00000352319.4_Missense_Mutation_p.P467R			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	582					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.P582R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AGGGATACTCCTATCACACAC	0.468																																					Melanoma(69;1156 1278 4951 8715 52012)											1	Substitution - Missense(1)	kidney(1)											181	144	157					16																	69199341		2198	4300	6498	SO:0001583	missense	84916			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1745C>G	16.37:g.69199341C>G	ENSP00000327179:p.Pro582Arg		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756341	0.89843	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.44881	1.5;0.91	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.91635	0.809;0.999	T	0.55237	-0.8172	10	0.13108	T	0.6	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	582;582	Q969X6;Q969X6-3	CIR1A_HUMAN;.	R	582;467	ENSP00000327179:P582R;ENSP00000339164:P467R	ENSP00000327179:P582R	P	+	2	0	CIRH1A	67756842	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.736000	0.74811	2.941000	0.99782	0.655000	0.94253	CCT		0.468	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		G	69199341	C	G	69199341	3	3	633	1	0	0	0	0	1	0	0	0	3436	681	24	4	1799	4	CIRH1A	16	69199341	Missense_Mutation	SNP	C	TCGA-EU-5904-01A-11D-1669-08	1999645	69199341	21155412	38	34462											
KIAA0100	9703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26961748	26961748	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr17:26961748G>C	ENST00000528896.2	-	16	2931	c.2857C>G	c.(2857-2859)Ctc>Gtc	p.L953V	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.L810V|KIAA0100_ENST00000544884.1_Missense_Mutation_p.L810V|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	953						extracellular region (GO:0005576)		p.L953V(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTGCCATAGAGACGACGGGAA	0.537																																																1	Substitution - Missense(1)	kidney(1)											121	121	121					17																	26961748		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2857C>G	17.37:g.26961748G>C	ENSP00000436773:p.Leu953Val		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675323	0.67928	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T;T	0.27890	1.98;1.64;1.64	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.66939	2.045	0.58432	D	0.999999	D	0.69078	0.997	D	0.78314	0.991	T	0.50482	-0.8823	10	0.45353	T	0.12	.	20.2651	0.98459	0.0:0.0:1.0:0.0	.	953	Q14667	K0100_HUMAN	V	953;923;953;810	ENSP00000467716:L923V;ENSP00000436773:L953V;ENSP00000446443:L810V	ENSP00000005905:L953V	L	-	1	0	KIAA0100	23985875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.400000	0.79949	2.796000	0.96246	0.563000	0.77884	CTC		0.537	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		C	26961748	G	C	26961748	3	2	633	1	0	0	0	0	1	0	0	0	8156	942	33	4	3946	4	KIAA0100	17	26961748	Missense_Mutation	SNP	G	TCGA-EU-5904-01A-11D-1669-08		26961748	54233462	39	34463											
ROCK1	6093	broad.mit.edu	37	18	18535179	18535179	+	Silent	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr18:18535179G>A	ENST00000399799.2	-	30	4480	c.3540C>T	c.(3538-3540)acC>acT	p.T1180T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1180	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T1180T(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CATCTCCTTGGGTTACAGGTC	0.299																																																1	Substitution - coding silent(1)	kidney(1)											10	10	10					18																	18535179		2147	4229	6376	SO:0001819	synonymous_variant	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3540C>T	18.37:g.18535179G>A			B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	CCDS11870.2																																																																																				0.299	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		A	18535179	G	A	18535179	2	1	633	1	0	0	0	0	0	0	0	1	13523	1219	43	2		2	ROCK1	18	18535179	Silent	SNP	G	TCGA-EU-5904-01A-11D-1669-08		18535179	59542069	40	34464											
ATP4A	495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36046491	36046491	+	Splice_Site	SNP	C	C	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr19:36046491C>G	ENST00000262623.3	-	14	2036	c.2008G>C	c.(2008-2010)Gat>Cat	p.D670H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	670					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.D670H(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCACGGGCATCCCTGGGGAGG	0.637																																																1	Substitution - Missense(1)	kidney(1)											59	61	60					19																	36046491		2203	4300	6503	SO:0001630	splice_region_variant	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2007-1G>C	19.37:g.36046491C>G			O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078503	0.55753	.	.	ENSG00000105675	ENST00000262623	D	0.94330	-3.4	4.97	4.97	0.65823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.071059	0.51477	D	0.000084	D	0.94918	0.8357	L	0.42581	1.335	0.80722	D	1	D	0.59767	0.986	D	0.72625	0.978	D	0.95170	0.8289	10	0.66056	D	0.02	.	15.7722	0.78180	0.0:1.0:0.0:0.0	.	670	P20648	ATP4A_HUMAN	H	670	ENSP00000262623:D670H	ENSP00000262623:D670H	D	-	1	0	ATP4A	40738331	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	4.821000	0.62679	2.595000	0.87683	0.462000	0.41574	GAT		0.637	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	Missense_Mutation	G	36046491	C	G	36046491	5	3	633	1	0	0	0	0	0	0	1	0	1145	869	30	4	1135	4	ATP4A	19	36046491	Splice_Site	SNP	C	TCGA-EU-5904-01A-11D-1669-08		36046491	23082492	41	34465											
TUBA8	51807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	18609612	18609612	+	Silent	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr22:18609612C>A	ENST00000330423.3	+	4	940	c.867C>A	c.(865-867)gcC>gcA	p.A289A	TUBA8_ENST00000316027.6_Silent_p.A223A	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	289					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A289A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TCTCTGTGGCCGAGATAACCA	0.602																																																1	Substitution - coding silent(1)	kidney(1)											112	92	99					22																	18609612		2203	4300	6503	SO:0001819	synonymous_variant	51807			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.867C>A	22.37:g.18609612C>A			B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Silent	SNP	ENST00000330423.3	37	CCDS13751.1																																																																																				0.602	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		A	18609612	C	A	18609612	2	1	633	1	0	0	0	0	0	0	0	1	16755	639	23	4		4	TUBA8	22	18609612	Silent	SNP	C	TCGA-EU-5904-01A-11D-1669-08		18609612	32694954	42	34466											
PI4KA	5297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21115600	21115600	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr22:21115600T>C	ENST00000572273.1	-	23	2839	c.2609A>G	c.(2608-2610)gAc>gGc	p.D870G	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Missense_Mutation_p.D928G			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	870					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.D870G(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACCAGATTTGTCTTTCTGAAT	0.363																																					GBM(136;1332 1831 3115 23601 50806)											2	Substitution - Missense(2)	kidney(2)											106	95	99					22																	21115600		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2609A>G	22.37:g.21115600T>C	ENSP00000458238:p.Asp870Gly		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	T	27.6	4.847298	0.91277	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77785	0.4182	M	0.78049	2.395	0.80722	D	1	D	0.55605	0.972	D	0.66716	0.946	T	0.76921	-0.2780	9	0.33141	T	0.24	-37.0067	15.3991	0.74823	0.0:0.0:0.0:1.0	.	870	P42356	PI4KA_HUMAN	G	870	.	ENSP00000255882:D870G	D	-	2	0	PI4KA	19445600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.234000	0.73211	0.533000	0.62120	GAC		0.363	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		C	21115600	T	C	21115600	3	2	633	1	0	0	0	0	1	0	0	0	11875	1667	58	3	3657	3	PI4KA	22	21115600	Missense_Mutation	SNP	T	TCGA-EU-5904-01A-11D-1669-08	2505988	21115600	30188966	43	34467											
XPNPEP2	7512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	128895243	128895243	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chrX:128895243G>T	ENST00000371106.3	+	17	1786	c.1594G>T	c.(1594-1596)Gtg>Ttg	p.V532L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	532						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.V532L(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CTTCCTGTGTGTGCATGAGTG	0.527																																																1	Substitution - Missense(1)	kidney(1)											141	106	117					X																	128895243		2203	4300	6503	SO:0001583	missense	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1594G>T	X.37:g.128895243G>T	ENSP00000360147:p.Val532Leu		A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915988	0.73098	.	.	ENSG00000122121	ENST00000371106	T	0.77489	-1.1	5.46	5.46	0.80206	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P, conserved site (1);Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.91143	0.7211	H	0.94620	3.56	0.52099	D	0.999945	D	0.69078	0.997	D	0.68943	0.961	D	0.93617	0.6944	10	0.87932	D	0	-11.1729	16.9949	0.86365	0.0:0.0:1.0:0.0	.	532	O43895	XPP2_HUMAN	L	532	ENSP00000360147:V532L	ENSP00000360147:V532L	V	+	1	0	XPNPEP2	128722924	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	7.436000	0.80404	2.276000	0.75962	0.513000	0.50165	GTG		0.527	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		T	128895243	G	T	128895243	3	4	633	1	0	0	0	0	1	0	0	0	17448	1377	48	4	1660	4	XPNPEP2	23	128895243	Missense_Mutation	SNP	G	TCGA-EU-5904-01A-11D-1669-08		128895243	26375317	44	34468											
FAM58A	92002	broad.mit.edu;hgsc.bcm.edu	37	X	152860113	152860113	+	Silent	SNP	G	G	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chrX:152860113G>C	ENST00000406277.2	-	5	417	c.315C>G	c.(313-315)ccC>ccG	p.P105P	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	107					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)			p.P73P(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAATTCCAGGGGCTCACCGC	0.552																																																1	Substitution - coding silent(1)	kidney(1)											57	52	54					X																	152860113		2203	4300	6503	SO:0001819	synonymous_variant	92002			BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"cyclin M"	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.315C>G	X.37:g.152860113G>C			Q2I380|Q330J9|Q96IU5|Q9BUU1	Missense_Mutation	SNP	ENST00000406277.2	37		.	.	.	.	.	.	.	.	.	.	G	0.048	-1.259616	0.01445	.	.	ENSG00000147382	ENST00000429336;ENST00000440428	T;T	0.43688	0.94;0.94	4.81	0.899	0.19271	.	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38585	-0.9654	7	0.51188	T	0.08	-37.2143	8.713	0.34395	0.4609:0.0:0.5391:0.0	.	.	.	.	A	29;10	ENSP00000412865:P29A;ENSP00000402949:P10A	ENSP00000412865:P29A	P	-	1	0	FAM58A	152513307	0.011000	0.17503	0.029000	0.17559	0.003000	0.03518	-0.146000	0.10250	0.062000	0.16340	-0.297000	0.09499	CCT		0.552	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152274		C	152860113	G	C	152860113	2	2	633	1	0	0	0	0	0	0	0	1	5592	1219	43	4		4	FAM58A	23	152860113	Silent	SNP	G	TCGA-EU-5904-01A-11D-1669-08	23964870	152860113	2410447	45	34469											
PHACTR4	65979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28785764	28785764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr1:28785764C>A	ENST00000373839.3	+	3	446	c.185C>A	c.(184-186)tCa>tAa	p.S62*	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Nonsense_Mutation_p.S72*	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	62					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.S72*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGAGACTTCAGAAGGTGAG	0.358																																																1	Substitution - Nonsense(1)	kidney(1)											53	53	53					1																	28785764		1819	4084	5903	SO:0001587	stop_gained	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.185C>A	1.37:g.28785764C>A	ENSP00000362945:p.Ser62*		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Nonsense_Mutation	SNP	ENST00000373839.3	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	37	6.451314	0.97577	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	.	.	.	5.07	5.07	0.68467	.	0.220504	0.40640	N	0.001044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7715	17.8049	0.88599	0.0:1.0:0.0:0.0	.	.	.	.	X	62;72;61	.	ENSP00000362942:S72X	S	+	2	0	PHACTR4	28658351	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.416000	0.80143	2.523000	0.85059	0.650000	0.86243	TCA		0.358	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		A	28785764	C	A	28785764	4	1	634	1	0	0	0	0	0	1	0	0	11814	838	29	4	241	4	PHACTR4	1	28785764	Nonsense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08		28785764	220464857	1	34470											
ZMYM1	79830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35579780	35579780	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr1:35579780A>T	ENST00000373330.1	+	11	2523	c.2349A>T	c.(2347-2349)gaA>gaT	p.E783D	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.E783D			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	783						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E783D(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGTCTGGGGAAATGTTGGCAA	0.328																																																1	Substitution - Missense(1)	kidney(1)											87	85	85					1																	35579780		1840	4091	5931	SO:0001583	missense	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2349A>T	1.37:g.35579780A>T	ENSP00000362427:p.Glu783Asp		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	A	9.833	1.188910	0.21954	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.23754	1.89;1.89;1.89	4.24	4.24	0.50183	Ribonuclease H-like (1);	0.272701	0.26467	N	0.024217	T	0.41650	0.1168	L	0.51422	1.61	0.26899	N	0.967155	D;D	0.64830	0.994;0.984	D;D	0.70716	0.97;0.956	T	0.12682	-1.0538	9	.	.	.	-18.8099	11.9416	0.52905	1.0:0.0:0.0:0.0	.	764;783	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	D	783;708;783	ENSP00000352920:E783D;ENSP00000362426:E708D;ENSP00000362427:E783D	.	E	+	3	2	ZMYM1	35352367	1.000000	0.71417	0.777000	0.31699	0.004000	0.04260	0.917000	0.28665	2.138000	0.66242	0.455000	0.32223	GAA		0.328	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		T	35579780	A	T	35579780	3	4	634	1	0	0	0	0	1	0	0	0	17704	11	1	5	2383	5	ZMYM1	1	35579780	Missense_Mutation	SNP	A	TCGA-EU-5905-01A-11D-1669-08	6794016	35579780	213670841	2	34471											
GBP1	2633	broad.mit.edu;hgsc.bcm.edu	37	1	89525013	89525013	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr1:89525013T>C	ENST00000370473.4	-	4	634	c.415A>G	c.(415-417)Atg>Gtg	p.M139V		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	139	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.M139V(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGTTGGTCCATAGCCTGCTGG	0.522																																																1	Substitution - Missense(1)	kidney(1)											198	167	178					1																	89525013		2203	4300	6503	SO:0001583	missense	2633			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.415A>G	1.37:g.89525013T>C	ENSP00000359504:p.Met139Val		D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	CCDS718.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995692	0.35226	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.74106	-0.81	4.6	4.6	0.57074	Guanylate-binding protein, N-terminal (1);	0.137477	0.64402	D	0.000009	T	0.60038	0.2238	M	0.66297	2.02	0.28799	N	0.898867	B	0.30033	0.266	B	0.33042	0.157	T	0.60281	-0.7294	10	0.51188	T	0.08	.	11.9789	0.53109	0.0:0.0:0.0:1.0	.	139	P32455	GBP1_HUMAN	V	139;102	ENSP00000359504:M139V	ENSP00000359504:M139V	M	-	1	0	GBP1	89297601	0.983000	0.35010	1.000000	0.80357	0.706000	0.40770	-0.127000	0.10547	1.720000	0.51447	0.254000	0.18369	ATG		0.522	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		C	89525013	T	C	89525013	3	2	634	1	0	0	0	0	1	0	0	0	6275	1406	49	3	1395	3	GBP1	1	89525013	Missense_Mutation	SNP	T	TCGA-EU-5905-01A-11D-1669-08	53945233	89525013	159725608	3	34472											
BTBD8	284697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	92554272	92554272	+	Missense_Mutation	SNP	T	T	G			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr1:92554272T>G	ENST00000342818.3	+	2	403	c.167T>G	c.(166-168)tTc>tGc	p.F56C	BTBD8_ENST00000540648.1_Missense_Mutation_p.F56C|BTBD8_ENST00000370382.3_Missense_Mutation_p.F56C	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	56						nucleus (GO:0005634)		p.F56C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AGGGAAGAATTCCATACAGAT	0.308																																																1	Substitution - Missense(1)	kidney(1)											83	85	84					1																	92554272		2203	4300	6503	SO:0001583	missense	284697			AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"BTB/POZ domain containing"	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.167T>G	1.37:g.92554272T>G	ENSP00000343686:p.Phe56Cys		Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	CCDS737.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473232	0.43942	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.67698	-0.28;-0.28;-0.28	5.31	4.17	0.49024	BTB/POZ (1);BTB/POZ fold (2);	0.477968	0.19605	N	0.110281	T	0.37320	0.0999	L	0.37697	1.125	0.23174	N	0.99817	P	0.40731	0.728	B	0.38616	0.277	T	0.10382	-1.0632	10	0.36615	T	0.2	-10.4484	10.9475	0.47310	0.1406:0.0:0.0:0.8594	.	56	Q5XKL5	BTBD8_HUMAN	C	56	ENSP00000359408:F56C;ENSP00000343686:F56C;ENSP00000443397:F56C	ENSP00000343686:F56C	F	+	2	0	BTBD8	92326860	0.955000	0.32602	0.656000	0.29637	0.793000	0.44817	2.242000	0.43106	0.936000	0.37367	0.482000	0.46254	TTC		0.308	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		G	92554272	T	G	92554272	3	3	634	1	0	0	0	0	1	0	0	0	1549	1783	62	5	173	5	BTBD8	1	92554272	Missense_Mutation	SNP	T	TCGA-EU-5905-01A-11D-1669-08	3029259	92554272	156696349	4	34473											
PRUNE	58497	hgsc.bcm.edu;ucsc.edu	37	1	150981137	150981138	+	Frame_Shift_Ins	INS	-	-	TGCT	rs112740880	byFrequency	TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr1:150981137_150981138insTGCT	ENST00000271620.3	+	1	185_186	c.29_30insTGCT	c.(28-33)gctgctfs	p.-11fs	FAM63A_ENST00000361936.5_5'Flank|PRUNE_ENST00000467771.1_3'UTR|FAM63A_ENST00000361738.6_5'Flank|FAM63A_ENST00000470877.1_5'Flank|PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000368935.1_5'UTR|PRUNE_ENST00000368937.1_5'UTR|FAM63A_ENST00000312210.5_5'Flank|FAM63A_ENST00000493834.2_5'Flank|PRUNE_ENST00000271619.8_Frame_Shift_Ins_p.-11fs	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase							cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTTGTCGAGCTGCTCTGCAGG	0.609																																																0																																										SO:0001589	frameshift_variant	58497			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"prune homolog (Drosophila)"			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.30_33dupTGCT	1.37:g.150981138_150981141dupTGCT	ENSP00000271620:p.Ala11fs		B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Frame_Shift_Ins	INS	ENST00000271620.3	37	CCDS977.1																																																																																				0.609	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222		TGCT	150981138	-	TGCT	150981137	7	5	634	1	0	1	1	0	0	0	0	0	12645	797	28	0	31	0	PRUNE	1	150981137	Frame_Shift_Ins	INS	-	TCGA-EU-5905-01A-11D-1669-08	58426865	150981137	98269484	5	34474											
ADAMTS4	9507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161166010	161166010	+	Silent	SNP	A	A	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr1:161166010A>T	ENST00000367996.5	-	3	1469	c.1041T>A	c.(1039-1041)atT>atA	p.I347I	ADAMTS4_ENST00000367995.3_3'UTR|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	347	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.I347I(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CATCCTCCACAATGGCACAGC	0.577																																																2	Substitution - coding silent(2)	kidney(2)											104	98	100					1																	161166010		2203	4300	6503	SO:0001819	synonymous_variant	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1041T>A	1.37:g.161166010A>T			Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	CCDS1223.1																																																																																				0.577	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		T	161166010	A	T	161166010	2	4	634	1	0	0	0	0	0	0	0	1	268	126	5	5		5	ADAMTS4	1	161166010	Silent	SNP	A	TCGA-EU-5905-01A-11D-1669-08	10184873	161166010	88084611	6	34475											
CCT4	10575	hgsc.bcm.edu;ucsc.edu	37	2	62104113	62104114	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr2:62104113_62104114insT	ENST00000394440.3	-	7	1014_1015	c.718_719insA	c.(718-720)agafs	p.R240fs	CCT4_ENST00000544079.1_Frame_Shift_Ins_p.R210fs|CCT4_ENST00000544185.1_Frame_Shift_Ins_p.R90fs|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_5'UTR|CCT4_ENST00000538252.1_Frame_Shift_Ins_p.R184fs	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	240					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			CTTTTCAACTCTGGTTATGCCA	0.406																																																0																																										SO:0001589	frameshift_variant	10575				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.719dupA	2.37:g.62104114_62104114dupT	ENSP00000377958:p.Arg240fs		B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Frame_Shift_Ins	INS	ENST00000394440.3	37	CCDS33206.1																																																																																				0.406	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			T	62104114	-	T	62104113	7	5	634	1	0	1	1	0	0	0	0	0	2957	913	32	0	932	0	CCT4	2	62104113	Frame_Shift_Ins	INS	-	TCGA-EU-5905-01A-11D-1669-08		62104113	181095260	7	34476											
MPHOSPH10	10199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	71361866	71361866	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr2:71361866delT	ENST00000244230.2	+	4	1389	c.1037delT	c.(1036-1038)gttfs	p.V346fs	MPHOSPH10_ENST00000498451.2_Frame_Shift_Del_p.V346fs	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	346					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GATACAGGTGTTTTAAATGTA	0.294																																																0													63	73	69					2																	71361866		2202	4294	6496	SO:0001589	frameshift_variant	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1037delT	2.37:g.71361866delT	ENSP00000244230:p.Val346fs		A0AVJ8	Frame_Shift_Del	DEL	ENST00000244230.2	37	CCDS1916.1																																																																																				0.294	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		-	71361866	T	-	71361866	7	5	634	1	0	1	0	1	0	0	0	0	9727	1725	60	0	1051	0	MPHOSPH10	2	71361866	Frame_Shift_Del	DEL	T	TCGA-EU-5905-01A-11D-1669-08	9257753	71361866	171837507	8	34477	257	2									
MPHOSPH10	10199	hgsc.bcm.edu	37	2	71361870	71361870	+	Missense_Mutation	SNP	A	A	C			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr2:71361870A>C	ENST00000244230.2	+	4	1393	c.1041A>C	c.(1039-1041)ttA>ttC	p.L347F	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.L347F	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	347					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CAGGTGTTTTAAATGTAAAGA	0.289																																																0													60	71	67					2																	71361870		2202	4295	6497	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1041A>C	2.37:g.71361870A>C	ENSP00000244230:p.Leu347Phe		A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.468183	0.26335	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.11063	2.81;2.81	4.34	-0.0522	0.13823	.	0.865324	0.09828	N	0.750609	T	0.11965	0.0291	M	0.61703	1.905	0.22112	N	0.999352	B;B	0.21688	0.028;0.059	B;B	0.23275	0.018;0.045	T	0.32188	-0.9916	10	0.56958	D	0.05	.	6.1592	0.20354	0.3642:0.5343:0.1014:0.0	.	347;347	B3KPV5;O00566	.;MPP10_HUMAN	F	347;207	ENSP00000244230:L347F;ENSP00000393034:L207F	ENSP00000244230:L347F	L	+	3	2	MPHOSPH10	71215378	0.000000	0.05858	0.002000	0.10522	0.236000	0.25371	0.104000	0.15313	0.219000	0.20840	0.383000	0.25322	TTA		0.289	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		C	71361870	A	C	71361870	3	2	634	1	0	0	0	0	1	0	0	0	9727	359	13	5	1055	5	MPHOSPH10	2	71361870	Missense_Mutation	SNP	A	TCGA-EU-5905-01A-11D-1669-08	4	71361870	171837503	9	34478	257	2									
FIGN	55137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	164466509	164466509	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr2:164466509C>G	ENST00000333129.3	-	3	2147	c.1833G>C	c.(1831-1833)atG>atC	p.M611I	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	611					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.M611I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGTCCAGTTGCATCAGAAATT	0.443																																																1	Substitution - Missense(1)	kidney(1)											108	102	104					2																	164466509		1956	4153	6109	SO:0001583	missense	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1833G>C	2.37:g.164466509C>G	ENSP00000333836:p.Met611Ile		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580047	0.28180	.	.	ENSG00000182263	ENST00000333129	D	0.94723	-3.5	5.47	5.47	0.80525	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.080649	0.85682	D	0.000000	D	0.88190	0.6370	N	0.03930	-0.32	0.80722	D	1	B	0.17667	0.023	B	0.29598	0.104	T	0.82506	-0.0423	10	0.25106	T	0.35	-14.8258	19.6959	0.96026	0.0:1.0:0.0:0.0	.	611	Q5HY92	FIGN_HUMAN	I	611	ENSP00000333836:M611I	ENSP00000333836:M611I	M	-	3	0	FIGN	164174755	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.212000	0.51145	2.729000	0.93468	0.467000	0.42956	ATG		0.443	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		G	164466509	C	G	164466509	3	3	634	1	0	0	0	0	1	0	0	0	5893	710	25	4	450	4	FIGN	2	164466509	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08	93104639	164466509	78732864	10	34479											
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188260	10188260	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr3:10188260delT	ENST00000256474.2	+	2	1243	c.403delT	c.(403-405)ttafs	p.L135fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	135	Involved in binding to CCT complex.		L -> F (in hemangioblastoma). {ECO:0000269|PubMed:8069849}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E134fs*24(1)|p.N131fs*7(1)|p.L135fs*9(1)|p.E134fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCAAACTGAATTATTTGTGCC	0.438		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	4	Deletion - Frameshift(3)|Insertion - Frameshift(1)	kidney(4)											213	197	203					3																	10188260		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.403delT	3.37:g.10188260delT	ENSP00000256474:p.Leu135fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.438	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10188260	T	-	10188260	7	5	634	1	0	1	0	1	0	0	0	0	17167	1490	52	0	409	0	VHL	3	10188260	Frame_Shift_Del	DEL	T	TCGA-EU-5905-01A-11D-1669-08		10188260	187834170	11	34480											
ACVR2B	93	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38519652	38519652	+	Missense_Mutation	SNP	A	A	G			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr3:38519652A>G	ENST00000352511.4	+	4	863	c.391A>G	c.(391-393)Aca>Gca	p.T131A		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	131					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.T131A(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCCACCCCCGACAGCCCCCAC	0.632																																																1	Substitution - Missense(1)	kidney(1)											46	46	46					3																	38519652		2203	4300	6503	SO:0001583	missense	93			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.391A>G	3.37:g.38519652A>G	ENSP00000340361:p.Thr131Ala		Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	A	8.004	0.755967	0.15846	.	.	ENSG00000114739	ENST00000352511	D	0.83755	-1.76	4.77	3.52	0.40303	.	0.484226	0.22620	N	0.057703	T	0.61615	0.2361	N	0.08118	0	0.29923	N	0.822536	B	0.02656	0.0	B	0.06405	0.002	T	0.51498	-0.8698	10	0.08179	T	0.78	.	9.1721	0.37089	0.6703:0.3297:0.0:0.0	.	131	Q13705	AVR2B_HUMAN	A	131	ENSP00000340361:T131A	ENSP00000340361:T131A	T	+	1	0	ACVR2B	38494656	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.852000	0.48310	1.788000	0.52465	0.379000	0.24179	ACA		0.632	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		G	38519652	A	G	38519652	3	3	634	1	0	0	0	0	1	0	0	0	224	275	10	3	405	3	ACVR2B	3	38519652	Missense_Mutation	SNP	A	TCGA-EU-5905-01A-11D-1669-08	28331392	38519652	159502778	12	34481											
LMOD3	56203	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	69168594	69168595	+	Frame_Shift_Ins	INS	-	-	T	rs373295911		TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr3:69168594_69168595insT	ENST00000420581.2	-	2	1090_1091	c.911_912insA	c.(910-912)aacfs	p.N304fs	LMOD3_ENST00000489031.1_Frame_Shift_Ins_p.N304fs|LMOD3_ENST00000475434.1_Frame_Shift_Ins_p.N304fs	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	304						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CACGCAACATGTTAGCCAAGGC	0.411																																																0																																										SO:0001589	frameshift_variant	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.912dupA	3.37:g.69168596_69168596dupT	ENSP00000414670:p.Asn304fs		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Frame_Shift_Ins	INS	ENST00000420581.2	37	CCDS46862.1																																																																																				0.411	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		T	69168595	-	T	69168594	7	5	634	1	0	1	1	0	0	0	0	0	8860	1368	48	0	778	0	LMOD3	3	69168594	Frame_Shift_Ins	INS	-	TCGA-EU-5905-01A-11D-1669-08	30648942	69168594	128853836	13	34482											
CCDC37	348807	broad.mit.edu;hgsc.bcm.edu	37	3	126142411	126142411	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr3:126142411C>A	ENST00000352312.1	+	13	1309	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M	CCDC37_ENST00000505024.1_Missense_Mutation_p.L405M|CCDC37_ENST00000393425.1_Missense_Mutation_p.L405M	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	404								p.L404M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAACCTGTCGCTGATCCAGAA	0.597																																																1	Substitution - Missense(1)	kidney(1)											91	77	82					3																	126142411		2203	4300	6503	SO:0001583	missense	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1210C>A	3.37:g.126142411C>A	ENSP00000344749:p.Leu404Met		D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513949	0.64522	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.55930	0.49;0.49;0.49	4.93	4.06	0.47325	.	0.155787	0.43110	D	0.000611	T	0.69717	0.3142	M	0.82132	2.575	0.47621	D	0.999471	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71189	-0.4666	10	0.72032	D	0.01	-22.0493	7.6787	0.28500	0.0:0.8088:0.0:0.1912	.	405;404	Q494V2-2;Q494V2	.;CCD37_HUMAN	M	404;405;405	ENSP00000344749:L404M;ENSP00000377076:L405M;ENSP00000423046:L405M	ENSP00000344749:L404M	L	+	1	2	CCDC37	127625101	0.986000	0.35501	0.813000	0.32504	0.962000	0.63368	2.685000	0.46959	1.081000	0.41110	0.491000	0.48974	CTG		0.597	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		A	126142411	C	A	126142411	3	1	634	1	0	0	0	0	1	0	0	0	2811	796	28	4	1256	4	CCDC37	3	126142411	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08	56973817	126142411	71880019	14	34483											
STAG1	10274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	136170989	136170989	+	Splice_Site	SNP	C	C	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr3:136170989C>T	ENST00000383202.2	-	14	1570	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	STAG1_ENST00000434713.2_Splice_Site_p.K212K|STAG1_ENST00000536929.1_Splice_Site_p.Q22Q|STAG1_ENST00000236698.5_Splice_Site_p.K438K	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	438					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.K438K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGCTAAATAGCCTGGAAATGA	0.398																																																1	Substitution - coding silent(1)	kidney(1)											103	92	96					3																	136170989		2203	4300	6503	SO:0001630	splice_region_variant	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1314-1G>A	3.37:g.136170989C>T			O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404987	0.25378	.	.	ENSG00000118007	ENST00000492318	.	.	.	5.51	-0.435	0.12279	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54523	-0.8281	4	.	.	.	.	11.7569	0.51880	0.0:0.5001:0.0:0.4999	.	.	.	.	N	49	.	.	S	-	2	0	STAG1	137653679	0.401000	0.25303	0.872000	0.34217	0.979000	0.70002	-0.234000	0.09028	-0.161000	0.10983	0.591000	0.81541	AGC		0.398	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	Silent	T	136170989	C	T	136170989	5	4	634	1	0	0	0	0	0	0	1	0	15247	753	26	2	2546	2	STAG1	3	136170989	Splice_Site	SNP	C	TCGA-EU-5905-01A-11D-1669-08	10028578	136170989	61851441	15	34484											
PDZD2	23037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32059357	32059357	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr5:32059357G>T	ENST00000438447.1	+	13	2601	c.2213G>T	c.(2212-2214)gGa>gTa	p.G738V	PDZD2_ENST00000282493.3_Missense_Mutation_p.G738V			O15018	PDZD2_HUMAN	PDZ domain containing 2	738	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G738V(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCAAGAGTTGGATTAGGCATT	0.418																																																1	Substitution - Missense(1)	kidney(1)											74	64	67					5																	32059357		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2213G>T	5.37:g.32059357G>T	ENSP00000402033:p.Gly738Val		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226954	0.79576	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.27104	1.69;1.69	5.69	5.69	0.88448	PDZ/DHR/GLGF (3);	0.000000	0.44483	D	0.000459	T	0.65059	0.2655	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75830	-0.3179	10	0.87932	D	0	.	17.3087	0.87202	0.0:0.0:1.0:0.0	.	564;738	B4E3P2;O15018	.;PDZD2_HUMAN	V	738;557;738	ENSP00000402033:G738V;ENSP00000282493:G738V	ENSP00000282493:G738V	G	+	2	0	PDZD2	32095114	1.000000	0.71417	0.962000	0.40283	0.769000	0.43574	9.283000	0.95860	2.679000	0.91253	0.591000	0.81541	GGA		0.418	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			T	32059357	G	T	32059357	3	4	634	1	0	0	0	0	1	0	0	0	11703	1174	41	4	2259	4	PDZD2	5	32059357	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08		32059357	148855903	16	34485											
DDX4	54514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	55056036	55056036	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr5:55056036G>A	ENST00000505374.1	+	4	228	c.136G>A	c.(136-138)Gat>Aat	p.D46N	DDX4_ENST00000514278.2_Missense_Mutation_p.D46N|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000354991.5_Missense_Mutation_p.D46N|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.D46N	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	46					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.D46N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGAAATGGATGATGGACCTTC	0.388																																																1	Substitution - Missense(1)	kidney(1)											178	176	177					5																	55056036		2203	4300	6503	SO:0001583	missense	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.136G>A	5.37:g.55056036G>A	ENSP00000424838:p.Asp46Asn		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312402	0.40895	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T	0.58060	1.94;1.94;1.98;3.46;0.45;1.94;0.36	4.86	4.0	0.46444	.	0.924655	0.09258	N	0.827037	T	0.37128	0.0992	N	0.19112	0.55	0.26454	N	0.975553	B;B;B	0.30361	0.277;0.005;0.181	B;B;B	0.33042	0.157;0.004;0.051	T	0.26467	-1.0102	10	0.14252	T	0.57	-33.1535	8.9224	0.35619	0.1005:0.0:0.8995:0.0	.	46;46;46	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	N	46	ENSP00000334167:D46N;ENSP00000425359:D46N;ENSP00000424838:D46N;ENSP00000427167:D46N;ENSP00000424112:D46N;ENSP00000347087:D46N;ENSP00000427522:D46N	ENSP00000334167:D46N	D	+	1	0	DDX4	55091793	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.949000	0.56668	1.271000	0.44313	-0.251000	0.11542	GAT		0.388	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		A	55056036	G	A	55056036	3	1	634	1	0	0	0	0	1	0	0	0	4362	1290	45	2	146	2	DDX4	5	55056036	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08	22996679	55056036	125859224	17	34486											
PCDH1	5097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141248528	141248529	+	Missense_Mutation	DNP	GA	GA	TT	rs201001001		TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr5:141248528_141248529GA>TT	ENST00000394536.3	-	2	647_648	c.508_509TC>AA	c.(508-510)TCa>AAa	p.S170K	PCDH1_ENST00000287008.3_Missense_Mutation_p.S170K|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000536585.1_Missense_Mutation_p.S148K|PCDH1_ENST00000456271.1_Missense_Mutation_p.S170K|PCDH1_ENST00000503492.1_Missense_Mutation_p.S170K	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	170	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S170>?(1)|p.S170*(1)|p.S170T(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GATGACTGGTGAGGCGAAGTTG	0.559																																					Ovarian(132;1609 1739 4190 14731 45037)											3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.508_509delinsTT	5.37:g.141248528_141248529delinsTT	ENSP00000378043:p.Ser170Lys		Q8IUP2	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1																																																																																				0.559	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		TT	141248529	GA	TT	141248528	3	4	634	1	0	0	0	0	1	0	0	0	11508	1294	45	4	3304	4	PCDH1	5	141248528	Missense_Mutation	DNP	GA	TCGA-EU-5905-01A-11D-1669-08	86192492	141248528	39666732	18	34487											
CUTA	51596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33384503	33384503	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr6:33384503T>C	ENST00000488034.1	-	6	585	c.464A>G	c.(463-465)cAg>cGg	p.Q155R	CUTA_ENST00000374496.3_Missense_Mutation_p.Q132R|CUTA_ENST00000607266.1_Missense_Mutation_p.Q132R|CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000374500.5_Missense_Mutation_p.Q174R|CUTA_ENST00000440279.3_Missense_Mutation_p.Q132R|CUTA_ENST00000488478.1_Silent_p.T138T|CUTA_ENST00000494751.1_Intron	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	155					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)	p.Q132R(1)	SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						AAAGTTCCCCTGTTCCACAGG	0.517																																																1	Substitution - Missense(1)	kidney(1)											118	99	105					6																	33384503		2203	4300	6503	SO:0001583	missense	51596			AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 82", "acetylcholinesterase-associated protein"	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.464A>G	6.37:g.33384503T>C	ENSP00000417544:p.Gln155Arg		A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Missense_Mutation	SNP	ENST00000488034.1	37	CCDS34433.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.861359	0.71949	.	.	ENSG00000112514	ENST00000374500;ENST00000440279;ENST00000488034;ENST00000374496	.	.	.	4.98	4.98	0.66077	Nitrogen regulatory PII-like, alpha/beta (1);	0.178753	0.50627	D	0.000113	T	0.34424	0.0897	N	0.25094	0.71	0.80722	D	1	P;P	0.50443	0.92;0.935	P;P	0.53988	0.699;0.739	T	0.12142	-1.0559	9	0.20519	T	0.43	-26.8813	10.9821	0.47501	0.0:0.0:0.0:1.0	.	174;155	O60888-2;O60888	.;CUTA_HUMAN	R	174;132;155;132	.	ENSP00000363620:Q132R	Q	-	2	0	CUTA	33492481	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	5.410000	0.66381	2.088000	0.63022	0.533000	0.62120	CAG		0.517	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	NM_015921		C	33384503	T	C	33384503	3	2	634	1	0	0	0	0	1	0	0	0	4064	1580	55	3	79	3	CUTA	6	33384503	Missense_Mutation	SNP	T	TCGA-EU-5905-01A-11D-1669-08		33384503	137730564	19	34488											
GNMT	27232	hgsc.bcm.edu;ucsc.edu	37	6	42929965	42929969	+	Frame_Shift_Del	DEL	GCTGG	GCTGG	-			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	GCTGG	GCTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr6:42929965_42929969delGCTGG	ENST00000372808.3	+	2	232_236	c.222_226delGCTGG	c.(220-228)atgctggtgfs	p.MLV74fs		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	74					cellular protein modification process (GO:0006464)|glycogen metabolic process (GO:0005977)|methionine metabolic process (GO:0006555)|one-carbon metabolic process (GO:0006730)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|S-adenosylmethionine metabolic process (GO:0046500)	cytoplasm (GO:0005737)	folic acid binding (GO:0005542)|glycine binding (GO:0016594)|glycine N-methyltransferase activity (GO:0017174)			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	ACTCCATTATGCTGGTGGAAGAGGG	0.6																																																0																																										SO:0001589	frameshift_variant	27232			AF101475	CCDS4876.1	6p12	2008-02-05			ENSG00000124713	ENSG00000124713			4415	protein-coding gene	gene with protein product		606628				10843803, 9495250	Standard	NM_018960		Approved		uc003otd.3	Q14749	OTTHUMG00000014712	ENST00000372808.3:c.222_226delGCTGG	6.37:g.42929965_42929969delGCTGG	ENSP00000361894:p.Met74fs		Q5T8W2|Q9NNZ1|Q9NS24	Frame_Shift_Del	DEL	ENST00000372808.3	37	CCDS4876.1																																																																																				0.6	GNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040568.1	NM_018960		-	42929969	GCTGG	-	42929965	7	5	634	1	0	1	0	1	0	0	0	0	6542	1319	46	0	228	0	GNMT	6	42929965	Frame_Shift_Del	DEL	GCTGG	TCGA-EU-5905-01A-11D-1669-08	9545462	42929965	128185102	20	34489											
SGK1	6446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	134494169	134494169	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr6:134494169C>G	ENST00000237305.7	-	6	629	c.541G>C	c.(541-543)Ggt>Cgt	p.G181R	SGK1_ENST00000475719.2_Intron|SGK1_ENST00000528577.1_Missense_Mutation_p.G209R|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000367858.5_Missense_Mutation_p.G276R|SGK1_ENST00000367857.5_Missense_Mutation_p.G171R|SGK1_ENST00000413996.3_Missense_Mutation_p.G195R	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.G181R(1)|p.G209R(1)|p.G276R(1)|p.G171R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ACCTCTCCACCATTAATGTAG	0.428																																																4	Substitution - Missense(4)	kidney(4)											92	94	94					6																	134494169		2203	4300	6503	SO:0001583	missense	6446			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.541G>C	6.37:g.134494169C>G	ENSP00000237305:p.Gly181Arg		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480934	0.84747	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	M	0.84156	2.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.09773	-1.0659	10	0.87932	D	0	.	20.2723	0.98479	0.0:1.0:0.0:0.0	.	209;195;171;276;181	O00141-5;O00141-3;O00141-4;O00141-2;O00141	.;.;.;.;SGK1_HUMAN	R	276;195;181;171;209	ENSP00000356832:G276R;ENSP00000396242:G195R;ENSP00000237305:G181R;ENSP00000356831:G171R;ENSP00000434450:G209R	ENSP00000237305:G181R	G	-	1	0	SGK1	134535862	1.000000	0.71417	0.966000	0.40874	0.540000	0.34992	7.818000	0.86416	2.793000	0.96121	0.563000	0.77884	GGT		0.428	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			G	134494169	C	G	134494169	3	3	634	1	0	0	0	0	1	0	0	0	14213	594	21	4	782	4	SGK1	6	134494169	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08	91564204	134494169	36620898	21	34490											
MYB	4602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	135516962	135516962	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr6:135516962G>A	ENST00000367814.4	+	9	1211	c.1025G>A	c.(1024-1026)aGt>aAt	p.S342N	MYB_ENST00000525369.1_Intron|MYB_ENST00000534044.1_Missense_Mutation_p.S342N|MYB_ENST00000528774.1_Missense_Mutation_p.S339N|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000534121.1_Missense_Mutation_p.S342N|MYB_ENST00000533624.1_Missense_Mutation_p.S307N|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000442647.2_Missense_Mutation_p.S339N|MYB_ENST00000341911.5_Missense_Mutation_p.S342N|MYB_ENST00000316528.8_Missense_Mutation_p.S342N|MYB_ENST00000527615.1_Missense_Mutation_p.S342N	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	342	Negative regulatory domain. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S342N(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CATGGAGACAGTGCACCTGTT	0.582			T	NFIB	adenoid cystic carcinoma																																		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	2	Substitution - Missense(2)	kidney(2)											161	126	138					6																	135516962		2203	4300	6503	SO:0001583	missense	4602				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1025G>A	6.37:g.135516962G>A	ENSP00000356788:p.Ser342Asn		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768855	0.31320	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T	0.35973	2.54;2.05;2.04;2.06;1.28;2.53;2.68;1.71;2.11	5.82	2.02	0.26589	.	0.424457	0.30076	N	0.010465	T	0.07188	0.0182	N	0.08118	0	0.25432	N	0.98818	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001;0.001;0.0	B;B;B;B;B;B;B;B	0.08055	0.001;0.001;0.002;0.002;0.002;0.002;0.003;0.001	T	0.32295	-0.9912	10	0.44086	T	0.13	-1.9633	11.0855	0.48084	0.1276:0.1966:0.6759:0.0	.	307;342;339;339;342;342;342;342	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;MYB_HUMAN;.	N	342;339;342;342;342;342;339;342;342;307	ENSP00000339992:S342N;ENSP00000410825:S339N;ENSP00000326328:S342N;ENSP00000356788:S342N;ENSP00000433227:S342N;ENSP00000434723:S339N;ENSP00000432851:S342N;ENSP00000435055:S342N;ENSP00000436605:S307N	ENSP00000237302:S342N	S	+	2	0	MYB	135558655	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	1.586000	0.36611	0.377000	0.24735	-1.255000	0.01485	AGT		0.582	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			A	135516962	G	A	135516962	3	1	634	1	0	0	0	0	1	0	0	0	10009	1029	36	2	1059	2	MYB	6	135516962	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08	1022793	135516962	35598105	22	34491											
BCLAF1	9774	broad.mit.edu;hgsc.bcm.edu	37	6	136597333	136597333	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr6:136597333G>T	ENST00000531224.1	-	5	1582	c.1330C>A	c.(1330-1332)Ctg>Atg	p.L444M	BCLAF1_ENST00000527536.1_Missense_Mutation_p.L444M|BCLAF1_ENST00000527759.1_Missense_Mutation_p.L442M|BCLAF1_ENST00000353331.4_Missense_Mutation_p.L442M|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.L442M	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	444					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L444M(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGCCTTTCAGTGAAACTTTG	0.393																																					Colon(142;1534 1789 5427 7063 28491)											1	Substitution - Missense(1)	kidney(1)											160	160	160					6																	136597333		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1330C>A	6.37:g.136597333G>T	ENSP00000435210:p.Leu444Met		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	9.244	1.038909	0.19669	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.12569	2.84;2.84;2.87;2.85;2.84;2.67	5.21	1.24	0.21308	.	0.132422	0.33938	N	0.004411	T	0.02455	0.0075	N	0.22421	0.69	0.80722	D	1	B;B;B	0.17268	0.005;0.021;0.005	B;B;B	0.15870	0.014;0.006;0.014	T	0.39800	-0.9596	10	0.31617	T	0.26	-3.4136	4.7849	0.13220	0.318:0.0:0.4726:0.2094	.	442;442;444	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	M	444;442;444;442;442;444	ENSP00000435210:L444M;ENSP00000229446:L442M;ENSP00000435441:L444M;ENSP00000434826:L442M;ENSP00000376159:L442M;ENSP00000431734:L444M	ENSP00000229446:L442M	L	-	1	2	BCLAF1	136639026	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	0.418000	0.21230	0.009000	0.14813	0.644000	0.83932	CTG		0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		T	136597333	G	T	136597333	3	4	634	1	0	0	0	0	1	0	0	0	1383	1020	36	4	1468	4	BCLAF1	6	136597333	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08	1080371	136597333	34517734	23	34492											
RAB32	10981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	146865253	146865253	+	Silent	SNP	C	C	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr6:146865253C>T	ENST00000367495.3	+	1	425	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	82					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.I82I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		TGTGGGACATCGCGGGTAAGC	0.627																																																1	Substitution - coding silent(1)	kidney(1)											25	25	25					6																	146865253		2203	4300	6503	SO:0001819	synonymous_variant	10981			U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"RAB, member RAS oncogene", "A-kinase anchor proteins"	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.246C>T	6.37:g.146865253C>T				Silent	SNP	ENST00000367495.3	37	CCDS5210.1																																																																																				0.627	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		T	146865253	C	T	146865253	2	4	634	1	0	0	0	0	0	0	0	1	12927	874	31	1		1	RAB32	6	146865253	Silent	SNP	C	TCGA-EU-5905-01A-11D-1669-08	10267920	146865253	24249814	24	34493											
WBSCR17	64409	broad.mit.edu;ucsc.edu	37	7	71175760	71175760	+	Silent	SNP	C	C	A	rs571368084		TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr7:71175760C>A	ENST00000333538.5	+	10	2149	c.1515C>A	c.(1513-1515)acC>acA	p.T505T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	505	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.T505T(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCCGCTACACCAAGGAAGGCT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17882	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	kidney(1)											92	84	87					7																	71175760		2203	4300	6503	SO:0001819	synonymous_variant	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1515C>A	7.37:g.71175760C>A			Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	CCDS5540.1																																																																																				0.632	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		A	71175760	C	A	71175760	2	1	634	1	0	0	0	0	0	0	0	1	17269	581	21	4		4	WBSCR17	7	71175760	Silent	SNP	C	TCGA-EU-5905-01A-11D-1669-08		71175760	87962903	25	34494											
SGK223	157285	broad.mit.edu	37	8	8175907	8175907	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr8:8175907C>A	ENST00000520004.1	-	6	4242	c.3978G>T	c.(3976-3978)tgG>tgT	p.W1326C	SGK223_ENST00000330777.4_Missense_Mutation_p.W1326C			Q86YV5	SG223_HUMAN		1330	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.W1328C(1)|p.W1326C(1)									GCCGAGGCCCCCACAGCAGGC	0.682																																					GBM(34;731 755 10259 33573 33867)											2	Substitution - Missense(2)	kidney(2)											42	46	44					8																	8175907		2034	4177	6211	SO:0001583	missense	157285																														ENST00000520004.1:c.3978G>T	8.37:g.8175907C>A	ENSP00000428054:p.Trp1326Cys		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432331	0.83776	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.14391	2.51;2.51	5.39	5.39	0.77823	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03175	-1.1064	10	0.87932	D	0	.	18.5141	0.90930	0.0:1.0:0.0:0.0	.	1326	Q86YV5	SG223_HUMAN	C	1326	ENSP00000330930:W1326C;ENSP00000428054:W1326C	ENSP00000330930:W1326C	W	-	3	0	AC068353.1	8213317	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.785000	0.85724	2.701000	0.92244	0.462000	0.41574	TGG		0.682	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			A	8175907	C	A	8175907	3	1	634	1	0	0	0	0	1	0	0	0	14216	624	22	4	234	4	SGK223	8	8175907	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08		8175907	138188115	26	34495											
INTS9	55756	broad.mit.edu;ucsc.edu	37	8	28625776	28625776	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr8:28625776C>G	ENST00000521022.1	-	17	1945	c.1864G>C	c.(1864-1866)Gct>Cct	p.A622P	INTS9_ENST00000416984.2_Missense_Mutation_p.A601P|INTS9_ENST00000397363.4_Missense_Mutation_p.A516P|INTS9_ENST00000521777.1_Missense_Mutation_p.A598P	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	622					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.A622P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AGCGTCTCAGCCTCCTGGAGC	0.522																																																1	Substitution - Missense(1)	kidney(1)											268	257	261					8																	28625776		2203	4300	6503	SO:0001583	missense	55756			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1864G>C	8.37:g.28625776C>G	ENSP00000429065:p.Ala622Pro		B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	CCDS34873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.63|19.63	3.864416|3.864416	0.71949|0.71949	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363|ENST00000517383	T;T;T;T|.	0.45276|.	0.9;0.9;0.9;0.9|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.124706|.	0.56097|.	D|.	0.000035|.	T|T	0.67543|0.67543	0.2904|0.2904	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999994|0.999994	B;B|.	0.29508|.	0.246;0.091|.	B;B|.	0.27608|.	0.081;0.081|.	T|T	0.64300|0.64300	-0.6440|-0.6440	10|5	0.34782|.	T|.	0.22|.	-15.741|-15.741	18.5577|18.5577	0.91090|0.91090	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	601;622|.	B7Z6M5;Q9NV88|.	.;INT9_HUMAN|.	P|S	622;601;466;598;516|113	ENSP00000429065:A622P;ENSP00000398208:A601P;ENSP00000430943:A598P;ENSP00000380520:A516P|.	ENSP00000380520:A516P|.	A|R	-|-	1|3	0|2	INTS9|INTS9	28681695|28681695	1.000000|1.000000	0.71417|0.71417	0.821000|0.821000	0.32701|0.32701	0.910000|0.910000	0.53928|0.53928	7.703000|7.703000	0.84585|0.84585	2.366000|2.366000	0.80165|0.80165	0.655000|0.655000	0.94253|0.94253	GCT|AGG		0.522	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		G	28625776	C	G	28625776	3	3	634	1	0	0	0	0	1	0	0	0	7787	739	26	4	116	4	INTS9	8	28625776	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08	20449869	28625776	117738246	27	34496											
CPNE3	8895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87568470	87568470	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr8:87568470G>C	ENST00000521271.1	+	16	1557	c.1395G>C	c.(1393-1395)gaG>gaC	p.E465D	CPNE3_ENST00000198765.4_Missense_Mutation_p.E465D	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	465	VWFA.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)	p.E465D(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GCGCCATGGAGTTTCTGGATG	0.493																																																1	Substitution - Missense(1)	kidney(1)											148	129	136					8																	87568470		2203	4300	6503	SO:0001583	missense	8895			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1395G>C	8.37:g.87568470G>C	ENSP00000430934:p.Glu465Asp		A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196570	0.79015	.	.	ENSG00000085719	ENST00000198765;ENST00000521271	T;T	0.24538	1.85;1.85	5.72	3.91	0.45181	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47433	-0.9118	10	0.59425	D	0.04	-23.9957	10.0457	0.42186	0.201:0.0:0.799:0.0	.	465	O75131	CPNE3_HUMAN	D	465	ENSP00000198765:E465D;ENSP00000430934:E465D	ENSP00000198765:E465D	E	+	3	2	CPNE3	87637586	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.261000	0.58841	0.756000	0.33013	0.650000	0.86243	GAG		0.493	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			C	87568470	G	C	87568470	3	2	634	1	0	0	0	0	1	0	0	0	3815	1020	36	4	1449	4	CPNE3	8	87568470	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08	58942694	87568470	58795552	28	34497											
UBR5	51366	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	103327008	103327008	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr8:103327008C>T	ENST00000520539.1	-	15	2464	c.1858G>A	c.(1858-1860)Gca>Aca	p.A620T	UBR5_ENST00000521922.1_Missense_Mutation_p.A614T|UBR5_ENST00000220959.4_Missense_Mutation_p.A620T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	620					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.A620S(1)|p.A620T(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATTGAGGATGCATCACTACAC	0.418																																					Ovarian(131;96 1741 5634 7352 27489)											2	Substitution - Missense(2)	lung(1)|kidney(1)											138	111	120					8																	103327008		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1858G>A	8.37:g.103327008C>T	ENSP00000429084:p.Ala620Thr		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840683	0.16891	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.38722	1.12;1.12;1.12	5.27	5.27	0.74061	.	0.056644	0.64402	D	0.000001	T	0.16342	0.0393	N	0.01048	-1.04	0.54753	D	0.999986	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30119	-0.9989	10	0.02654	T	1	.	18.883	0.92364	0.0:1.0:0.0:0.0	.	614;620	E7EMW7;O95071	.;UBR5_HUMAN	T	620;620;614	ENSP00000429084:A620T;ENSP00000220959:A620T;ENSP00000427819:A614T	ENSP00000220959:A620T	A	-	1	0	UBR5	103396184	1.000000	0.71417	0.552000	0.28243	0.856000	0.48823	5.556000	0.67307	2.482000	0.83794	0.585000	0.79938	GCA		0.418	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103327008	C	T	103327008	3	4	634	1	0	0	0	0	1	0	0	0	16910	710	25	2	6721	2	UBR5	8	103327008	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08	15758538	103327008	43037014	29	34498											
KCNQ3	3786	hgsc.bcm.edu	37	8	133492523	133492523	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr8:133492523C>G	ENST00000388996.4	-	1	677	c.257G>C	c.(256-258)gGg>gCg	p.G86A	KCNQ3_ENST00000519445.1_Missense_Mutation_p.G86A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	86					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.G86A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGCCAGGAGCCCGATGCCCTG	0.692																																																1	Substitution - Missense(1)	kidney(1)											32	36	35					8																	133492523		2203	4297	6500	SO:0001583	missense	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.257G>C	8.37:g.133492523C>G	ENSP00000373648:p.Gly86Ala		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300483	0.40694	.	.	ENSG00000184156	ENST00000388996;ENST00000519445;ENST00000542679	D;D	0.98914	-5.22;-5.23	4.43	4.43	0.53597	.	0.273259	0.25789	N	0.028286	D	0.96667	0.8912	L	0.38175	1.15	0.48341	D	0.999631	P;P	0.46784	0.884;0.884	B;B	0.41466	0.358;0.358	D	0.96914	0.9669	10	0.48119	T	0.1	-9.3909	16.2364	0.82377	0.0:1.0:0.0:0.0	.	86;86	E7ET42;O43525	.;KCNQ3_HUMAN	A	86;86;75	ENSP00000373648:G86A;ENSP00000428790:G86A	ENSP00000373648:G86A	G	-	2	0	KCNQ3	133561705	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	5.705000	0.68355	2.297000	0.77311	0.557000	0.71058	GGG		0.692	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		G	133492523	C	G	133492523	3	3	634	1	0	0	0	0	1	0	0	0	8086	623	22	4	2421	4	KCNQ3	8	133492523	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08	30165515	133492523	12871499	30	34499											
ZNF79	7633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130206351	130206351	+	Silent	SNP	T	T	C			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr9:130206351T>C	ENST00000342483.5	+	5	778	c.372T>C	c.(370-372)tcT>tcC	p.S124S	ZNF79_ENST00000543471.1_Silent_p.S100S	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S124S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AAGCCCTTTCTGAAGCTTCAT	0.483																																																1	Substitution - coding silent(1)	kidney(1)											91	90	90					9																	130206351		2203	4300	6503	SO:0001819	synonymous_variant	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.372T>C	9.37:g.130206351T>C			Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	CCDS6871.1																																																																																				0.483	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		C	130206351	T	C	130206351	2	2	634	1	0	0	0	0	0	0	0	1	18166	1567	55	3		3	ZNF79	9	130206351	Silent	SNP	T	TCGA-EU-5905-01A-11D-1669-08		130206351	11007080	31	34500											
TBC1D13	54662	hgsc.bcm.edu;ucsc.edu	37	9	131550656	131550656	+	Frame_Shift_Del	DEL	T	T	-	rs550347992		TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr9:131550656delT	ENST00000372648.5	+	2	217	c.67delT	c.(67-69)ttgfs	p.L23fs	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_De_novo_Start_InFrame|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.L23fs	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	23							Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CTCAATTGCATTGGAAAAGCT	0.512																																																0													145	135	138					9																	131550656		2203	4300	6503	SO:0001589	frameshift_variant	54662			AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.67delT	9.37:g.131550656delT	ENSP00000361731:p.Leu23fs		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Frame_Shift_Del	DEL	ENST00000372648.5	37	CCDS6911.1																																																																																				0.512	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		-	131550656	T	-	131550656	7	5	634	1	0	1	0	1	0	0	0	0	15607	1490	52	0	73	0	TBC1D13	9	131550656	Frame_Shift_Del	DEL	T	TCGA-EU-5905-01A-11D-1669-08	1344305	131550656	9662775	32	34501											
GPSM1	26086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139250844	139250844	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr9:139250844A>T	ENST00000440944.1	+	13	1883	c.1663A>T	c.(1663-1665)Atc>Ttc	p.I555F	GPSM1_ENST00000429455.1_Missense_Mutation_p.I46F|GPSM1_ENST00000392944.1_Missense_Mutation_p.I46F	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	555	GoLoco 2. {ECO:0000255|PROSITE- ProRule:PRU00097}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)	p.I532F(1)		biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CTTCGACCTCATCGCCAGCTC	0.711																																																1	Substitution - Missense(1)	kidney(1)											16	20	19					9																	139250844		2196	4291	6487	SO:0001583	missense	26086			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1663A>T	9.37:g.139250844A>T	ENSP00000392828:p.Ile555Phe		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.967250	0.92855	.	.	ENSG00000160360	ENST00000440944;ENST00000354753;ENST00000429455;ENST00000392944;ENST00000291775	D;D	0.94280	-3.39;-3.37	5.3	4.16	0.48862	GoLoco motif (3);	0.107102	0.64402	D	0.000007	D	0.96178	0.8754	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95599	0.8661	10	0.62326	D	0.03	-10.8616	11.2445	0.48990	0.8358:0.1642:0.0:0.0	.	555	Q86YR5	GPSM1_HUMAN	F	555;532;46;46;46	ENSP00000392828:I555F;ENSP00000346797:I532F	ENSP00000291775:I46F	I	+	1	0	GPSM1	138370665	1.000000	0.71417	0.989000	0.46669	0.981000	0.71138	4.506000	0.60428	0.852000	0.35287	0.379000	0.24179	ATC		0.711	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		T	139250844	A	T	139250844	3	4	634	1	0	0	0	0	1	0	0	0	6736	217	8	5	1880	5	GPSM1	9	139250844	Missense_Mutation	SNP	A	TCGA-EU-5905-01A-11D-1669-08	7700188	139250844	1962587	33	34502											
TMEM203	94107	broad.mit.edu;hgsc.bcm.edu	37	9	140099456	140099456	+	Nonstop_Mutation	SNP	C	C	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr9:140099456C>A	ENST00000343666.5	-	1	634	c.411G>T	c.(409-411)taG>taT	p.*137Y	NDOR1_ENST00000371521.4_5'Flank|NDOR1_ENST00000427047.2_5'Flank|NDOR1_ENST00000344894.5_5'Flank|TMEM203_ENST00000537254.1_Nonstop_Mutation_p.*137Y|NDOR1_ENST00000458322.2_5'Flank|TPRN_ENST00000541945.1_5'Flank	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	0						integral component of membrane (GO:0016021)		p.*137Y(1)		central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCGGTGAGGCTAGTTGACCC	0.622																																																1	Nonstop extension(1)	kidney(1)											30	30	30					9																	140099456		2202	4289	6491	SO:0001578	stop_lost	94107			BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"HBeAg-binding protein 1"					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985	ENST00000343666.5:c.411G>T	9.37:g.140099456C>A			Q6NW08	Missense_Mutation	SNP	ENST00000343666.5	37	CCDS35185.1	.	.	.	.	.	.	.	.	.	.	C	1.292	-0.607218	0.03717	.	.	ENSG00000187713	ENST00000343666;ENST00000537254	.	.	.	4.31	0.307	0.15811	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1298	0.14903	0.2877:0.5497:0.0:0.1627	.	.	.	.	Y	137	.	.	X	-	3	2	TMEM203	139219277	0.831000	0.29352	0.013000	0.15412	0.005000	0.04900	0.736000	0.26130	-0.120000	0.11809	-0.169000	0.13324	TAG		0.622	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055325.2	NM_053045		A	140099456	C	A	140099456	4	1	634	1	0	0	0	0	0	0	0	0	16133	808	28	4	3	4	TMEM203	9	140099456	Nonstop_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08	848612	140099456	1113975	34	34503											
ZNF518A	9849	hgsc.bcm.edu;ucsc.edu	37	10	97917981	97917981	+	RNA	SNP	A	A	C			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr10:97917981A>C	ENST00000534948.1	+	0	2759							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q634H(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCTCCAACCAAGGATCATTAC	0.353																																																2	Substitution - Missense(2)	kidney(2)											57	54	55					10																	97917981		1859	4104	5963			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917981A>C			A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37																																																																																					0.353	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		C	97917981	A	C	97917981	1	2	634	0	1	0	0	0	0	0	0	0	17967	69	3	5		5	ZNF518A	10	97917981	RNA	SNP	A	TCGA-EU-5905-01A-11D-1669-08		97917981	37616766	35	34504											
INPP5F	22876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	121567515	121567515	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr10:121567515G>C	ENST00000361976.2	+	13	1678	c.1512G>C	c.(1510-1512)atG>atC	p.M504I		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.M504I(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ACCAGATAATGTGGGCCAATA	0.438																																																1	Substitution - Missense(1)	kidney(1)											119	107	111					10																	121567515		2203	4300	6503	SO:0001583	missense	22876			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1512G>C	10.37:g.121567515G>C	ENSP00000354519:p.Met504Ile		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016010	0.54468	.	.	ENSG00000198825	ENST00000361976	T	0.23348	1.91	5.55	5.55	0.83447	Synaptojanin, N-terminal (1);	0.042343	0.85682	D	0.000000	T	0.19366	0.0465	L	0.31207	0.915	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.03423	-1.1038	10	0.29301	T	0.29	-29.9176	12.7556	0.57333	0.1173:0.0:0.8827:0.0	.	504	Q9Y2H2	SAC2_HUMAN	I	504	ENSP00000354519:M504I	ENSP00000354519:M504I	M	+	3	0	INPP5F	121557505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.352000	0.59404	2.773000	0.95371	0.585000	0.79938	ATG		0.438	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		C	121567515	G	C	121567515	3	2	634	1	0	0	0	0	1	0	0	0	7760	1377	48	4	1562	4	INPP5F	10	121567515	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08	23649534	121567515	13967232	36	34505											
ESAM	90952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124623594	124623594	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr11:124623594C>A	ENST00000278927.5	-	7	1250	c.1121G>T	c.(1120-1122)gGt>gTt	p.G374V	ESAM_ENST00000442070.2_Intron|VSIG2_ENST00000326621.5_5'Flank|VSIG2_ENST00000403470.1_5'Flank	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	374					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.G374V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		AGGCACAGCACCCATGCGGCT	0.587																																																1	Substitution - Missense(1)	kidney(1)											58	60	59					11																	124623594		2201	4299	6500	SO:0001583	missense	90952			AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.1121G>T	11.37:g.124623594C>A	ENSP00000278927:p.Gly374Val		B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742605	0.69418	.	.	ENSG00000149564	ENST00000278927	T	0.61392	0.11	5.17	4.25	0.50352	.	0.059006	0.64402	D	0.000002	T	0.73651	0.3614	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.76721	-0.2855	10	0.72032	D	0.01	.	11.5321	0.50616	0.0:0.9139:0.0:0.0861	.	374	Q96AP7	ESAM_HUMAN	V	374	ENSP00000278927:G374V	ENSP00000278927:G374V	G	-	2	0	ESAM	124128804	0.997000	0.39634	1.000000	0.80357	0.978000	0.69477	3.895000	0.56258	1.295000	0.44724	0.655000	0.94253	GGT		0.587	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		A	124623594	C	A	124623594	3	1	634	1	0	0	0	0	1	0	0	0	5249	507	18	4	55	4	ESAM	11	124623594	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08		124623594	10382922	37	34506											
PDE3A	5139	broad.mit.edu;hgsc.bcm.edu	37	12	20832968	20832968	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr12:20832968G>T	ENST00000359062.3	+	16	3229	c.3189G>T	c.(3187-3189)aaG>aaT	p.K1063N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1063	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.K1063N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ttttaGAAAAGAAGACTTTCA	0.348																																																1	Substitution - Missense(1)	kidney(1)											27	27	27					12																	20832968		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3189G>T	12.37:g.20832968G>T	ENSP00000351957:p.Lys1063Asn		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	8.383	0.837893	0.16891	.	.	ENSG00000172572	ENST00000359062	T	0.76709	-1.04	5.72	4.83	0.62350	.	0.542560	0.19315	N	0.117288	T	0.70692	0.3253	L	0.55481	1.735	0.35300	D	0.782966	P	0.35656	0.514	B	0.24269	0.052	T	0.76798	-0.2826	10	0.41790	T	0.15	.	14.9366	0.70960	0.0687:0.0:0.9313:0.0	.	1063	Q14432	PDE3A_HUMAN	N	1063	ENSP00000351957:K1063N	ENSP00000351957:K1063N	K	+	3	2	PDE3A	20724235	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	2.403000	0.44530	1.423000	0.47198	-0.137000	0.14449	AAG		0.348	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			T	20832968	G	T	20832968	3	4	634	1	0	0	0	0	1	0	0	0	11639	933	33	4	3251	4	PDE3A	12	20832968	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08		20832968	113018927	38	34507											
KRT71	112802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52940112	52940112	+	Missense_Mutation	SNP	T	T	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr12:52940112T>A	ENST00000267119.5	-	7	1352	c.1283A>T	c.(1282-1284)gAg>gTg	p.E428V		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	428	Coil 2.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.E428V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GGTGGCGATCTCCATGTCCAG	0.662																																																1	Substitution - Missense(1)	kidney(1)											80	70	73					12																	52940112		2203	4300	6503	SO:0001583	missense	112802			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1283A>T	12.37:g.52940112T>A	ENSP00000267119:p.Glu428Val		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848169	0.91277	.	.	ENSG00000139648	ENST00000267119	D	0.96830	-4.14	4.34	4.34	0.51931	Filament (1);	0.000000	0.40640	N	0.001047	D	0.98960	0.9646	H	0.99074	4.42	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	D	0.98925	1.0785	10	0.87932	D	0	.	14.2269	0.65866	0.0:0.0:0.0:1.0	.	428	Q3SY84	K2C71_HUMAN	V	428	ENSP00000267119:E428V	ENSP00000267119:E428V	E	-	2	0	KRT71	51226379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	1.921000	0.55644	0.459000	0.35465	GAG		0.662	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		A	52940112	T	A	52940112	3	1	634	1	0	0	0	0	1	0	0	0	8486	1551	54	5	300	5	KRT71	12	52940112	Missense_Mutation	SNP	T	TCGA-EU-5905-01A-11D-1669-08	32107144	52940112	80911783	39	34508											
ACSS3	79611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	81536908	81536908	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr12:81536908G>A	ENST00000548058.1	+	5	1713	c.803G>A	c.(802-804)gGt>gAt	p.G268D	ACSS3_ENST00000261206.3_Missense_Mutation_p.G267D			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	268						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.G268D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTGGCTCCCGGTCGTGACCTT	0.403																																																1	Substitution - Missense(1)	kidney(1)											105	97	100					12																	81536908		2203	4300	6503	SO:0001583	missense	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.803G>A	12.37:g.81536908G>A	ENSP00000449535:p.Gly268Asp		Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	9.913	1.210101	0.22289	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.39592	1.07;1.07	5.58	3.76	0.43208	AMP-dependent synthetase/ligase (1);	0.226250	0.53938	N	0.000060	T	0.35008	0.0917	L	0.50993	1.605	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.15235	-1.0444	10	0.51188	T	0.08	-9.9538	8.3603	0.32355	0.1347:0.0:0.739:0.1262	.	268	Q9H6R3	ACSS3_HUMAN	D	268;267	ENSP00000449535:G268D;ENSP00000261206:G267D	ENSP00000261206:G267D	G	+	2	0	ACSS3	80061039	0.998000	0.40836	0.777000	0.31699	0.310000	0.27922	2.565000	0.45939	0.841000	0.35020	-0.291000	0.09656	GGT		0.403	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		A	81536908	G	A	81536908	3	1	634	1	0	0	0	0	1	0	0	0	190	1261	44	2	821	2	ACSS3	12	81536908	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08	28596796	81536908	52314987	40	34509											
MSI1	4440	broad.mit.edu	37	12	120805861	120805861	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr12:120805861C>G	ENST00000257552.2	-	4	305	c.217G>C	c.(217-219)Ggg>Cgg	p.G73R	RPS27P25_ENST00000477404.1_RNA	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	73	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.G73R(1)		breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTATCCACCCCCGCCTGGTCC	0.647																																																1	Substitution - Missense(1)	kidney(1)											41	34	36					12																	120805861		2203	4300	6503	SO:0001583	missense	4440			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.217G>C	12.37:g.120805861C>G	ENSP00000257552:p.Gly73Arg		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708113	0.68615	.	.	ENSG00000135097	ENST00000257552	D	0.85484	-1.99	3.24	3.24	0.37175	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.50627	D	0.000112	D	0.84019	0.5380	N	0.25286	0.73	0.80722	D	1	P	0.48764	0.915	P	0.57468	0.821	D	0.84370	0.0543	10	0.40728	T	0.16	.	14.6092	0.68504	0.0:1.0:0.0:0.0	.	73	O43347	MSI1H_HUMAN	R	73	ENSP00000257552:G73R	ENSP00000257552:G73R	G	-	1	0	MSI1	119290244	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.248000	0.78268	1.808000	0.52836	0.305000	0.20034	GGG		0.647	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		G	120805861	C	G	120805861	3	3	634	1	0	0	0	0	1	0	0	0	9877	623	22	4	915	4	MSI1	12	120805861	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08	39268953	120805861	13046034	41	34510											
TINF2	26277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24709719	24709719	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr14:24709719C>G	ENST00000267415.7	-	6	1308	c.967G>C	c.(967-969)Gcc>Ccc	p.A323P	TINF2_ENST00000540705.1_Missense_Mutation_p.A288P|TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000538777.1_Missense_Mutation_p.A109P|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_Missense_Mutation_p.A323P|TINF2_ENST00000558510.1_5'Flank	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	323				ASTGKSKSPC -> PSNGKYKGPY (in Ref. 1; AAF18439). {ECO:0000305}.	negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)	p.A323P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CCAGTGGAGGCTGCTCTTGTG	0.537									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																																							1	Substitution - Missense(1)	kidney(1)											49	50	50					14																	24709719		2020	4176	6196	SO:0001583	missense	26277	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.967G>C	14.37:g.24709719C>G	ENSP00000267415:p.Ala323Pro		B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	C	7.444	0.641385	0.14451	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423;ENST00000538777	D;D;D;D	0.89050	-2.05;-2.05;-2.05;-2.46	4.89	2.66	0.31614	.	0.659581	0.13760	N	0.364659	T	0.81019	0.4736	L	0.33485	1.01	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.14578	0.011;0.011	T	0.68265	-0.5454	10	0.36615	T	0.2	-0.0975	6.7618	0.23544	0.0:0.7023:0.1858:0.1118	.	288;323	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	P	323;288;323;109	ENSP00000267415:A323P;ENSP00000442154:A288P;ENSP00000382350:A323P;ENSP00000437495:A109P	ENSP00000267415:A323P	A	-	1	0	TINF2	23779559	0.004000	0.15560	0.223000	0.23860	0.430000	0.31655	0.206000	0.17375	1.040000	0.40099	0.462000	0.41574	GCC		0.537	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			G	24709719	C	G	24709719	3	3	634	1	0	0	0	0	1	0	0	0	15928	797	28	4	408	4	TINF2	14	24709719	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08		24709719	82639821	42	34511											
ZNF646	9726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31090216	31090216	+	Missense_Mutation	SNP	T	T	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr16:31090216T>A	ENST00000394979.2	+	1	2994	c.2571T>A	c.(2569-2571)ttT>ttA	p.F857L	ZNF646_ENST00000300850.5_Missense_Mutation_p.F857L			O15015	ZN646_HUMAN	zinc finger protein 646	857					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F857L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CGAAGGAGTTTGACTCTCTGC	0.617																																																1	Substitution - Missense(1)	kidney(1)											70	76	74					16																	31090216		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2571T>A	16.37:g.31090216T>A	ENSP00000378429:p.Phe857Leu		Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	T	21.1	4.099616	0.76983	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.71461	-0.57;-0.57	5.1	1.65	0.23941	.	.	.	.	.	T	0.79106	0.4390	M	0.82193	2.58	0.30224	N	0.796506	D	0.65815	0.995	P	0.56163	0.793	T	0.74680	-0.3584	9	0.87932	D	0	-8.987	8.2619	0.31790	0.0:0.2346:0.0:0.7654	.	857	O15015-2	.	L	857	ENSP00000300850:F857L;ENSP00000378429:F857L	ENSP00000300850:F857L	F	+	3	2	ZNF646	30997717	0.017000	0.18338	1.000000	0.80357	0.998000	0.95712	0.115000	0.15540	0.290000	0.22444	0.460000	0.39030	TTT		0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		A	31090216	T	A	31090216	3	1	634	1	0	0	0	0	1	0	0	0	18067	1809	63	5	2573	5	ZNF646	16	31090216	Missense_Mutation	SNP	T	TCGA-EU-5905-01A-11D-1669-08		31090216	59264537	43	34512											
FUS	2521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31201624	31201624	+	Silent	SNP	T	T	C	rs76570520		TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr16:31201624T>C	ENST00000254108.7	+	12	1302	c.1197T>C	c.(1195-1197)ggT>ggC	p.G399G	FUS_ENST00000568685.1_Silent_p.G400G|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.G398G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	399	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G399G(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		gctatggaggtggtggcagtg	0.572			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																		Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	1	Substitution - coding silent(1)	kidney(1)											150	111	124					16																	31201624		2197	4300	6497	SO:0001819	synonymous_variant	2521			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1197T>C	16.37:g.31201624T>C			Q9H4A8	Silent	SNP	ENST00000254108.7	37	CCDS10707.1																																																																																				0.572	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		C	31201624	T	C	31201624	2	2	634	1	0	0	0	0	0	0	0	1	6102	1683	59	3		3	FUS	16	31201624	Silent	SNP	T	TCGA-EU-5905-01A-11D-1669-08	111408	31201624	59153129	44	34513											
ZNF423	23090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	49670001	49670001	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr16:49670001C>T	ENST00000561648.1	-	4	3115	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H	ZNF423_ENST00000562871.1_Missense_Mutation_p.R961H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R904H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R961H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R961H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R904H|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1021H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1021					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1021H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GACCACACAGCGGAAGCCCGT	0.602																																																2	Substitution - Missense(2)	kidney(2)											81	75	77					16																	49670001		2199	4300	6499	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3062G>A	16.37:g.49670001C>T	ENSP00000455426:p.Arg1021His		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990520	0.74589	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10288	2.89;2.94	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);	0.050236	0.85682	D	0.000000	T	0.22044	0.0531	L	0.27053	0.805	0.46725	D	0.999174	D	0.89917	1.0	D	0.91635	0.999	T	0.03922	-1.0992	9	.	.	.	-38.9493	18.3264	0.90255	0.0:1.0:0.0:0.0	.	1021	Q2M1K9	ZN423_HUMAN	H	1021;904	ENSP00000262383:R1021H;ENSP00000442321:R904H	.	R	-	2	0	ZNF423	48227502	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.089000	0.71384	2.342000	0.79632	0.561000	0.74099	CGC		0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		T	49670001	C	T	49670001	3	4	634	1	0	0	0	0	1	0	0	0	17903	768	27	1	812	1	ZNF423	16	49670001	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08	18468377	49670001	40684752	45	34514											
PHLPP2	23035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71683569	71683569	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr16:71683569T>C	ENST00000568954.1	-	19	3574	c.3196A>G	c.(3196-3198)Aag>Gag	p.K1066E	PHLPP2_ENST00000393524.2_Missense_Mutation_p.K999E|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000567016.1_Missense_Mutation_p.K1101E|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.K1066E			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1066					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.K1066E(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GTGGCTGGCTTAGGGGCATCC	0.527																																																1	Substitution - Missense(1)	kidney(1)											70	78	76					16																	71683569		2198	4299	6497	SO:0001583	missense	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3196A>G	16.37:g.71683569T>C	ENSP00000457991:p.Lys1066Glu		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	T	1.789	-0.479902	0.04383	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.40225	1.57;1.04	5.9	5.9	0.94986	.	0.104149	0.64402	D	0.000001	T	0.31827	0.0809	L	0.50919	1.6	0.28839	N	0.896739	B;B	0.22746	0.074;0.021	B;B	0.25140	0.058;0.019	T	0.37820	-0.9689	10	0.02654	T	1	-24.4828	8.7521	0.34622	0.0:0.083:0.0:0.917	.	999;1066	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	E	1066;999	ENSP00000348611:K1066E;ENSP00000377159:K999E	ENSP00000348611:K1066E	K	-	1	0	PHLPP2	70241070	1.000000	0.71417	0.943000	0.38184	0.260000	0.26232	3.400000	0.52594	2.251000	0.74343	0.528000	0.53228	AAG		0.527	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		C	71683569	T	C	71683569	3	2	634	1	0	0	0	0	1	0	0	0	11857	1763	61	3	779	3	PHLPP2	16	71683569	Missense_Mutation	SNP	T	TCGA-EU-5905-01A-11D-1669-08	22013568	71683569	18671184	46	34515											
ACCN1	40	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	31618462	31618463	+	Intron	INS	-	-	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr17:31618462_31618463insT	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Frame_Shift_Ins_p.Y224fs	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GCTCGCCGCGGTACTTGCAGGA	0.688																																																0																																										SO:0001627	intron_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179377->A	17.37:g.31618463_31618463dupT			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Del	INS	ENST00000359872.6	37	CCDS42296.1																																																																																				0.688	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		T	31618463	-	T	31618462	6	5	634	0	1	1	1	0	0	0	0	0	128	1256	44	0		0	ACCN1	17	31618462	Intron	INS	-	TCGA-EU-5905-01A-11D-1669-08		31618462	49576748	47	34516											
PRKAR1A	5573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	66525084	66525084	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr17:66525084G>C	ENST00000589228.1	+	9	971	c.843G>C	c.(841-843)aaG>aaC	p.K281N	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.K281N|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.K281N|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.K281N|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.K281N|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.K281N	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	281					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.K281N(1)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ATGGGCAGAAGATTGTGGTGC	0.403			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"		"E, M"	1	Substitution - Missense(1)	kidney(1)											161	152	155					17																	66525084		2203	4300	6503	SO:0001583	missense	5573	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.843G>C	17.37:g.66525084G>C	ENSP00000464977:p.Lys281Asn		K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171490	0.57584	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.92647	-3.08;-3.08;-3.08	5.89	4.9	0.64082	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	T	0.81716	0.4881	N	0.05230	-0.09	0.80722	D	1	B;B	0.20459	0.045;0.045	B;B	0.22753	0.041;0.041	T	0.75566	-0.3273	10	0.13853	T	0.58	-26.3948	12.9827	0.58572	0.0816:0.0:0.9184:0.0	.	281;281	B2R5T5;P10644	.;KAP0_HUMAN	N	281	ENSP00000351410:K281N;ENSP00000376475:K281N;ENSP00000445625:K281N	ENSP00000351410:K281N	K	+	3	2	PRKAR1A	64036679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.695000	0.74593	1.403000	0.46800	0.650000	0.86243	AAG		0.403	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			C	66525084	G	C	66525084	3	2	634	1	0	0	0	0	1	0	0	0	12508	933	33	4	873	4	PRKAR1A	17	66525084	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08	34906622	66525084	14670126	48	34517											
ACTG1	71	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79477756	79477756	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr17:79477756T>C	ENST00000575842.1	-	5	1514	c.1088A>G	c.(1087-1089)gAc>gGc	p.D363G	ACTG1_ENST00000575087.1_Missense_Mutation_p.D363G|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.D363G|ACTG1_ENST00000573283.1_Missense_Mutation_p.D363G			P63261	ACTG_HUMAN	actin, gamma 1	363					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.D363G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GCCCGACTCGTCGTACTCCTG	0.547																																																1	Substitution - Missense(1)	kidney(1)											88	88	88					17																	79477756		2203	4300	6503	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.1088A>G	17.37:g.79477756T>C	ENSP00000458162:p.Asp363Gly		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	t	11.70	1.716671	0.30413	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94966	-3.57	4.05	2.96	0.34315	Actin, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.97801	0.9278	H	0.96208	3.785	0.51233	D	0.999911	D	0.55605	0.972	D	0.80764	0.994	D	0.97368	0.9974	10	0.87932	D	0	.	10.372	0.44060	0.0:0.0:0.1653:0.8347	.	363	P63261	ACTG_HUMAN	G	363;321	ENSP00000331514:D363G	ENSP00000331514:D363G	D	-	2	0	ACTG1	77092351	1.000000	0.71417	0.842000	0.33263	0.784000	0.44337	7.467000	0.80930	0.613000	0.30089	0.525000	0.51046	GAC		0.547	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		C	79477756	T	C	79477756	3	2	634	1	0	0	0	0	1	0	0	0	196	1667	58	3	43	3	ACTG1	17	79477756	Missense_Mutation	SNP	T	TCGA-EU-5905-01A-11D-1669-08	12952672	79477756	1717454	49	34518											
DPP9	91039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4704158	4704158	+	Silent	SNP	G	G	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr19:4704158G>A	ENST00000598800.1	-	7	1003	c.498C>T	c.(496-498)ggC>ggT	p.G166G	DPP9_ENST00000597849.1_Silent_p.G195G|DPP9_ENST00000262960.9_Silent_p.G195G|DPP9_ENST00000594671.1_Silent_p.G166G			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	166						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)	p.G274G(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		AGCCGTTCTTGCCGCCGTCGC	0.672																																																1	Substitution - coding silent(1)	kidney(1)											36	44	42					19																	4704158		2033	4170	6203	SO:0001819	synonymous_variant	91039			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.498C>T	19.37:g.4704158G>A			O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	37																																																																																					0.672	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			A	4704158	G	A	4704158	2	1	634	1	0	0	0	0	0	0	0	1	4735	1306	46	2		2	DPP9	19	4704158	Silent	SNP	G	TCGA-EU-5905-01A-11D-1669-08		4704158	54424825	50	34519											
DAND5	199699	broad.mit.edu;ucsc.edu	37	19	13084386	13084386	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr19:13084386C>G	ENST00000317060.2	+	2	687	c.508C>G	c.(508-510)Cgt>Ggt	p.R170G	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	170	CTCK.				atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)	p.R170G(1)		kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CTCAGCCTCCCGTCGACGGGT	0.607																																																1	Substitution - Missense(1)	kidney(1)											133	109	117					19																	13084386		2203	4300	6503	SO:0001583	missense	199699			AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"DAN domain family, member 5"			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.508C>G	19.37:g.13084386C>G	ENSP00000323155:p.Arg170Gly			Missense_Mutation	SNP	ENST00000317060.2	37	CCDS12291.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712743	0.30413	.	.	ENSG00000179284	ENST00000317060	T	0.33654	1.4	5.49	2.2	0.27929	DAN (1);	0.906086	0.09091	N	0.849807	T	0.36276	0.0961	L	0.46157	1.445	0.09310	N	1	P	0.38597	0.639	P	0.45071	0.468	T	0.28490	-1.0042	10	0.45353	T	0.12	-1.7171	4.9825	0.14172	0.1679:0.657:0.0:0.1752	.	170	Q8N907	DAND5_HUMAN	G	170	ENSP00000323155:R170G	ENSP00000323155:R170G	R	+	1	0	DAND5	12945386	0.003000	0.15002	0.002000	0.10522	0.065000	0.16274	0.242000	0.18087	0.280000	0.22209	0.655000	0.94253	CGT		0.607	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452761.1	NM_152654		G	13084386	C	G	13084386	3	3	634	1	0	0	0	0	1	0	0	0	4232	652	23	4	514	4	DAND5	19	13084386	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08	8380228	13084386	46044597	51	34520											
MYO9B	4650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17212688	17212688	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr19:17212688G>A	ENST00000594824.1	+	2	308	c.161G>A	c.(160-162)aGc>aAc	p.S54N	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.S54N|MYO9B_ENST00000595618.1_Missense_Mutation_p.S54N			Q13459	MYO9B_HUMAN	myosin IXB	54	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.S54N(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCATTGCCAGCCTGCGGCTG	0.637																																																2	Substitution - Missense(2)	kidney(2)											40	48	45					19																	17212688		2137	4233	6370	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.161G>A	19.37:g.17212688G>A	ENSP00000471367:p.Ser54Asn		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	G	0.047	-1.264058	0.01433	.	.	ENSG00000099331	ENST00000397274	T	0.17213	2.29	4.93	1.2	0.21068	Ras-association (3);	0.988038	0.08234	N	0.977007	T	0.08980	0.0222	N	0.16478	0.41	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.005;0.005;0.005	T	0.38542	-0.9656	10	0.32370	T	0.25	.	1.5822	0.02637	0.1248:0.1735:0.2414:0.4603	.	54;54;60	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	N	54	ENSP00000380444:S54N	ENSP00000380444:S54N	S	+	2	0	MYO9B	17073688	0.000000	0.05858	0.510000	0.27712	0.018000	0.09664	0.009000	0.13219	0.460000	0.27045	-0.169000	0.13324	AGC		0.637	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			A	17212688	G	A	17212688	3	1	634	1	0	0	0	0	1	0	0	0	10087	971	34	2	163	2	MYO9B	19	17212688	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08	4128302	17212688	41916295	52	34521											
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38948875	38948875	+	Missense_Mutation	SNP	A	A	G			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr19:38948875A>G	ENST00000359596.3	+	18	2110	c.2110A>G	c.(2110-2112)Aac>Gac	p.N704D	RYR1_ENST00000355481.4_Missense_Mutation_p.N704D|RYR1_ENST00000360985.3_Missense_Mutation_p.N704D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	704	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.N704D(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGGGGCGGCAACGGGGTCGG	0.652																																																1	Substitution - Missense(1)	kidney(1)											63	61	62					19																	38948875		2203	4299	6502	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2110A>G	19.37:g.38948875A>G	ENSP00000352608:p.Asn704Asp		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755513	0.69648	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70045	-0.45;-0.45;-0.45	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000001	T	0.80465	0.4628	M	0.70903	2.155	0.45330	D	0.998327	D;D	0.89917	0.991;1.0	P;D	0.85130	0.86;0.997	T	0.82647	-0.0354	10	0.66056	D	0.02	.	14.6028	0.68453	1.0:0.0:0.0:0.0	.	704;704	P21817-2;P21817	.;RYR1_HUMAN	D	704	ENSP00000352608:N704D;ENSP00000347667:N704D;ENSP00000354254:N704D	ENSP00000347667:N704D	N	+	1	0	RYR1	43640715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.119000	0.64992	0.449000	0.29647	AAC		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			G	38948875	A	G	38948875	3	3	634	1	0	0	0	0	1	0	0	0	13774	130	5	3	2180	3	RYR1	19	38948875	Missense_Mutation	SNP	A	TCGA-EU-5905-01A-11D-1669-08	21736187	38948875	20180108	53	34522											
CSRP2BP	57325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	18125954	18125954	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr20:18125954G>T	ENST00000435364.3	+	2	678	c.337G>T	c.(337-339)Ggc>Tgc	p.G113C	CSRP2BP_ENST00000489634.2_5'UTR|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.G113C	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	113					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.G113C(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CTCAGCAGATGGCAAGGAGCA	0.458																																																1	Substitution - Missense(1)	kidney(1)											182	186	185					20																	18125954		2203	4300	6503	SO:0001583	missense	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.337G>T	20.37:g.18125954G>T	ENSP00000392318:p.Gly113Cys		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611761	0.87258	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364	T;T;T	0.20738	2.05;2.05;2.05	5.28	5.28	0.74379	.	0.056142	0.64402	D	0.000001	T	0.44201	0.1282	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.62955	0.909	T	0.34054	-0.9844	10	0.72032	D	0.01	-22.0886	19.2737	0.94021	0.0:0.0:1.0:0.0	.	113	Q9H8E8	CSR2B_HUMAN	C	113	ENSP00000278816:G113C;ENSP00000366909:G113C;ENSP00000392318:G113C	ENSP00000278816:G113C	G	+	1	0	CSRP2BP	18073954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.895000	0.92512	2.633000	0.89246	0.467000	0.42956	GGC		0.458	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		T	18125954	G	T	18125954	3	4	634	1	0	0	0	0	1	0	0	0	3970	1348	47	4	343	4	CSRP2BP	20	18125954	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08		18125954	44899566	54	34523											
LSM14B	149986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	60701436	60701436	+	Missense_Mutation	SNP	A	A	G			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr20:60701436A>G	ENST00000279068.6	+	3	528	c.368A>G	c.(367-369)tAc>tGc	p.Y123C	LSM14B_ENST00000370915.1_Missense_Mutation_p.Y123C|LSM14B_ENST00000253001.4_Missense_Mutation_p.Y123C	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	123					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.Y123C(2)		endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			ATGGCGCCCTACGGCCCGCTG	0.632																																																2	Substitution - Missense(2)	kidney(2)											45	47	47					20																	60701436		2048	4179	6227	SO:0001583	missense	149986			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.368A>G	20.37:g.60701436A>G	ENSP00000279068:p.Tyr123Cys		Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057621	0.76074	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	T;T;T;T	0.60672	0.8;0.83;0.78;0.17	5.42	5.42	0.78866	.	0.235442	0.45126	D	0.000387	T	0.76637	0.4015	M	0.78801	2.425	0.53005	D	0.999967	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.85130	0.981;0.991;0.996;0.997;0.982	T	0.80241	-0.1464	10	0.87932	D	0	.	15.4581	0.75330	1.0:0.0:0.0:0.0	.	4;4;123;149;123	E9PG81;C9J454;Q9BX40;Q5TBQ0;Q9BX40-2	.;.;LS14B_HUMAN;.;.	C	123;123;123;4;149;123;4;4	ENSP00000279068:Y123C;ENSP00000253001:Y123C;ENSP00000383172:Y149C;ENSP00000355209:Y4C	ENSP00000253001:Y123C	Y	+	2	0	LSM14B	60134831	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.172000	0.77604	2.046000	0.60703	0.418000	0.28097	TAC		0.632	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		G	60701436	A	G	60701436	3	3	634	1	0	0	0	0	1	0	0	0	9057	391	14	3	378	3	LSM14B	20	60701436	Missense_Mutation	SNP	A	TCGA-EU-5905-01A-11D-1669-08	42575482	60701436	2324084	55	34524											
SLCO4A1	28231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	61300316	61300316	+	Silent	SNP	G	G	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr20:61300316G>T	ENST00000370507.1	+	10	2007	c.1911G>T	c.(1909-1911)gtG>gtT	p.V637V	SLCO4A1_ENST00000217159.1_Silent_p.V637V|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	637					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V637V(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCGGCTGGGTGATCGACAAGG	0.647											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)											1	Substitution - coding silent(1)	kidney(1)											37	38	37					20																	61300316		2203	4299	6502	SO:0001819	synonymous_variant	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1911G>T	20.37:g.61300316G>T		1052	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	CCDS13501.1																																																																																				0.647	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		T	61300316	G	T	61300316	2	4	634	1	0	0	0	0	0	0	0	1	14735	1277	45	4		4	SLCO4A1	20	61300316	Silent	SNP	G	TCGA-EU-5905-01A-11D-1669-08	598880	61300316	1725204	56	34525											
KCNQ2	3785	broad.mit.edu	37	20	62050979	62050979	+	Missense_Mutation	SNP	G	G	A	rs368720575		TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr20:62050979G>A	ENST00000359125.2	-	12	1468	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	KCNQ2_ENST00000359689.1_Missense_Mutation_p.R432C|KCNQ2_ENST00000354587.3_Intron|KCNQ2_ENST00000360480.3_Intron|KCNQ2_ENST00000357249.2_Intron|KCNQ2_ENST00000370224.1_Intron|KCNQ2_ENST00000344462.4_Intron	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	432					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R432C(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TACCTAGAGCGTCCGGGGCAG	0.662																																																1	Substitution - Missense(1)	kidney(1)						G	CYS/ARG,,,	1,4403	2.1+/-5.4	0,1,2201	41	38	39		1294,,,	3.8	1	20		39	0,8598		0,0,4299	no	missense,intron,intron,intron	KCNQ2	NM_172107.2,NM_004518.4,NM_172106.1,NM_172108.3	180,,,	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,,,	432/873,,,	62050979	1,13001	2202	4299	6501	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1294C>T	20.37:g.62050979G>A	ENSP00000352035:p.Arg432Cys		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938533	0.52972	2.27E-4	0.0	ENSG00000075043	ENST00000359125;ENST00000359689	D;D	0.99098	-5.42;-5.42	4.83	3.81	0.43845	.	.	.	.	.	D	0.94958	0.8369	N	0.14661	0.345	0.80722	D	1	P	0.39116	0.66	B	0.30646	0.118	D	0.94631	0.7822	9	0.56958	D	0.05	.	9.4771	0.38878	0.0:0.0:0.6191:0.3809	.	432	O43526	KCNQ2_HUMAN	C	432	ENSP00000352035:R432C;ENSP00000352718:R432C	ENSP00000352035:R432C	R	-	1	0	KCNQ2	61521423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.218000	0.58554	2.227000	0.72691	0.655000	0.94253	CGC		0.662	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		A	62050979	G	A	62050979	3	1	634	1	0	0	0	0	1	0	0	0	8085	1145	40	1	1348	1	KCNQ2	20	62050979	Missense_Mutation	SNP	G	TCGA-EU-5905-01A-11D-1669-08	750663	62050979	974541	57	34526											
TIAM1	7074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|hgsc.bcm.edu;ucsc.edu	37	21	32624302	32624303	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr21:32624302_32624303CC>AA	ENST00000286827.3	-	6	1637_1638	c.1166_1167GG>TT	c.(1165-1167)cGG>cTT	p.R389L	TIAM1_ENST00000541036.1_Missense_Mutation_p.R389L|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	389					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R389R(2)|p.R389>?(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTCCAGCTCCCGCCGGAAGTT	0.683																																																4	Substitution - coding silent(2)|Complex(2)	kidney(4)																																								SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1166_1167delinsAA	21.37:g.32624302_32624303delinsAA	ENSP00000286827:p.Arg389Leu		B7ZLR6|F5GZ53|Q17RT7	Silent|Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.683	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		AA	32624303	CC	AA	32624302	3	1	634	1	0	0	0	0	1	0	0	0	15895	610	22	4	3704	4	TIAM1	21	32624302	Missense_Mutation	DNP	CC	TCGA-EU-5905-01A-11D-1669-08		32624302	15505593	58	34527											
GCFC1	94104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34120909	34120909	+	Silent	SNP	T	T	C	rs371129196		TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr21:34120909T>C	ENST00000331923.4	-	11	2013	c.1824A>G	c.(1822-1824)aaA>aaG	p.K608K	PAXBP1_ENST00000290178.4_Silent_p.K608K	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	608					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K608K(1)									ATGTGTAGTATTTTGAACGCC	0.383																																																1	Substitution - coding silent(1)	kidney(1)						T	,	1,4405	2.1+/-5.4	0,1,2202	104	99	101		1824,1824	2.3	1	21		101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GCFC1	NM_013329.3,NM_016631.3	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	608/816,608/918	34120909	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1824A>G	21.37:g.34120909T>C			D3DSE7|Q96DU8|Q9NYQ0	Silent	SNP	ENST00000331923.4	37	CCDS13619.1																																																																																				0.383	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		C	34120909	T	C	34120909	2	2	634	1	0	0	0	0	0	0	0	1	6291	1490	52	3		3	GCFC1	21	34120909	Silent	SNP	T	TCGA-EU-5905-01A-11D-1669-08	1496607	34120909	14008986	59	34528											
MCM3AP	8888	broad.mit.edu;ucsc.edu	37	21	47705106	47705106	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chr21:47705106C>A	ENST00000397708.1	-	2	349	c.95G>T	c.(94-96)cGa>cTa	p.R32L	YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R32L|YBEY_ENST00000339195.6_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	32					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.R32L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTGACCAAATCGAAATGGCGG	0.458																																																1	Substitution - Missense(1)	kidney(1)											73	76	75					21																	47705106		2203	4300	6503	SO:0001583	missense	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.95G>T	21.37:g.47705106C>A	ENSP00000380820:p.Arg32Leu		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583022	0.46006	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000426537	T;T	0.03386	3.95;3.95	5.57	0.657	0.17850	.	0.708209	0.13075	N	0.415761	T	0.02230	0.0069	L	0.29908	0.895	0.27233	N	0.959352	P	0.40515	0.719	B	0.29524	0.103	T	0.46091	-0.9216	10	0.38643	T	0.18	-0.1106	5.0586	0.14546	0.0:0.4571:0.1428:0.4	.	32	O60318	MCM3A_HUMAN	L	32	ENSP00000380820:R32L;ENSP00000291688:R32L	ENSP00000291688:R32L	R	-	2	0	MCM3AP	46529534	1.000000	0.71417	0.040000	0.18447	0.850000	0.48378	0.579000	0.23788	-0.154000	0.11118	0.561000	0.74099	CGA		0.458	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		A	47705106	C	A	47705106	3	1	634	1	0	0	0	0	1	0	0	0	9390	884	31	4	5959	4	MCM3AP	21	47705106	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08	13584197	47705106	424789	60	34529											
CCNB3	85417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	50054338	50054338	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chrX:50054338C>A	ENST00000376042.1	+	6	3467	c.3169C>A	c.(3169-3171)Cca>Aca	p.P1057T	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.P1057T			Q8WWL7	CCNB3_HUMAN	cyclin B3	1057					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.P1057T(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGGAACCAGCCCATATGTGTT	0.522																																																2	Substitution - Missense(2)	kidney(2)											115	92	100					X																	50054338		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3169C>A	X.37:g.50054338C>A	ENSP00000365210:p.Pro1057Thr		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	9.251	1.040803	0.19669	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.19938	2.11;2.11	2.74	-0.0331	0.13902	.	718.655000	0.00166	N	0.000018	T	0.17916	0.0430	N	0.24115	0.695	0.09310	N	1	D	0.56287	0.975	P	0.46362	0.514	T	0.10989	-1.0606	9	.	.	.	.	5.0148	0.14330	0.0:0.514:0.0:0.486	.	1057	Q8WWL7	CCNB3_HUMAN	T	1057	ENSP00000365210:P1057T;ENSP00000276014:P1057T	.	P	+	1	0	CCNB3	50071078	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-1.636000	0.02016	-0.139000	0.11414	0.529000	0.55759	CCA		0.522	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			A	50054338	C	A	50054338	3	1	634	1	0	0	0	0	1	0	0	0	2916	623	22	4	3183	4	CCNB3	23	50054338	Missense_Mutation	SNP	C	TCGA-EU-5905-01A-11D-1669-08		50054338	105216222	61	34530											
VGLL1	51442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135638638	135638638	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5905-01A-11D-1669-08	TCGA-EU-5905-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	091c18b6-bfc2-4353-9eba-ebc46c2c18c5	75193f95-bb70-4f8b-90df-9c2ff7df4f8d	g.chrX:135638638A>T	ENST00000370634.3	+	5	887	c.717A>T	c.(715-717)aaA>aaT	p.K239N	VGLL1_ENST00000470358.1_3'UTR	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.K239N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CACCTGGGAAATACTCACTTA	0.478																																																1	Substitution - Missense(1)	kidney(1)											177	146	157					X																	135638638		2203	4300	6503	SO:0001583	missense	51442			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"vestigial like 1 (Drosophila)"			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.717A>T	X.37:g.135638638A>T	ENSP00000359668:p.Lys239Asn		Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	CCDS14658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	9.656|9.656	1.142817|1.142817	0.21205|0.21205	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000440515|ENST00000370634;ENST00000430688;ENST00000456412	.|T;T	.|0.58797	.|0.66;0.31	3.86|3.86	-4.41|-4.41	0.03590|0.03590	.|.	.|2.199070	.|0.02330	.|N	.|0.073837	T|T	0.33352|0.33352	0.0860|0.0860	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P	.|0.39480	.|0.675	.|B	.|0.34242	.|0.178	T|T	0.37361|0.37361	-0.9709|-0.9709	5|10	.|0.87932	.|D	.|0	.|.	6.8193|6.8193	0.23849|0.23849	0.3144:0.1626:0.523:0.0|0.3144:0.1626:0.523:0.0	.|.	.|239	.|Q99990	.|VGLL1_HUMAN	L|N	157|239;96;41	.|ENSP00000359668:K239N;ENSP00000388868:K41N	.|ENSP00000359668:K239N	I|K	+|+	1|3	0|2	VGLL1|VGLL1	135466304|135466304	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-1.282000|-1.282000	0.02799|0.02799	-1.186000|-1.186000	0.02713|0.02713	0.478000|0.478000	0.44815|0.44815	ATA|AAA		0.478	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		T	135638638	A	T	135638638	3	4	634	1	0	0	0	0	1	0	0	0	17163	98	4	5	731	5	VGLL1	23	135638638	Missense_Mutation	SNP	A	TCGA-EU-5905-01A-11D-1669-08	85584300	135638638	19631922	62	34531											
RSC1A1	6248	hgsc.bcm.edu;ucsc.edu	37	1	15987206	15987206	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr1:15987206delT	ENST00000345034.1	+	1	843	c.843delT	c.(841-843)actfs	p.T281fs	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	281					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATCTCACTTTAGATAATC	0.388																																																0													76	74	75					1																	15987206		2203	4300	6503	SO:0001589	frameshift_variant	6248			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.843delT	1.37:g.15987206delT	ENSP00000341963:p.Thr281fs		B2RBP5	Frame_Shift_Del	DEL	ENST00000345034.1	37	CCDS161.1																																																																																				0.388	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		-	15987206	T	-	15987206	7	5	635	1	0	1	0	1	0	0	0	0	13704	1596	56	0	845	0	RSC1A1	1	15987206	Frame_Shift_Del	DEL	T	TCGA-EU-5906-01A-11D-1669-08		15987206	233263415	1	34532											
C8A	731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	57351710	57351710	+	Silent	SNP	A	A	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr1:57351710A>T	ENST00000361249.3	+	7	1062	c.966A>T	c.(964-966)ccA>ccT	p.P322P		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	322	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.P322P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGGAGCTTCCAGATCAGTACA	0.413																																																1	Substitution - coding silent(1)	kidney(1)											118	97	104					1																	57351710		2203	4300	6503	SO:0001819	synonymous_variant	731			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.966A>T	1.37:g.57351710A>T			A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	CCDS606.1																																																																																				0.413	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		T	57351710	A	T	57351710	2	4	635	1	0	0	0	0	0	0	0	1	2418	175	7	5		5	C8A	1	57351710	Silent	SNP	A	TCGA-EU-5906-01A-11D-1669-08	41364504	57351710	191898911	2	34533											
CTH	1491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70896063	70896063	+	Missense_Mutation	SNP	G	G	A	rs147044875		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr1:70896063G>A	ENST00000370938.3	+	7	854	c.710G>A	c.(709-711)cGt>cAt	p.R237H	CTH_ENST00000346806.2_Missense_Mutation_p.R193H|CTH_ENST00000411986.2_Missense_Mutation_p.R205H|CTH_ENST00000464926.1_3'UTR	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.R237H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AATAGACTTCGTTTCTTGCAA	0.343																																																1	Substitution - Missense(1)	kidney(1)						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	99	99	99		614,710,578	3.5	1	1	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CTH	NM_001190463.1,NM_001902.5,NM_153742.4	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	205/374,237/406,193/362	70896063	1,13005	2203	4300	6503	SO:0001583	missense	1491			BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.710G>A	1.37:g.70896063G>A	ENSP00000359976:p.Arg237His		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	5.387	0.256627	0.10185	0.0	1.16E-4	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.82711	-1.64;-1.64;-1.64	5.45	3.47	0.39725	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.154309	0.56097	D	0.000033	T	0.60353	0.2262	L	0.60455	1.87	0.32160	N	0.583024	B;B;B	0.32731	0.382;0.218;0.325	B;B;B	0.29785	0.094;0.083;0.107	T	0.51450	-0.8704	10	0.14656	T	0.56	-16.4804	5.8082	0.18452	0.1908:0.1716:0.6376:0.0	.	205;193;237	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	H	205;237;193	ENSP00000413407:R205H;ENSP00000359976:R237H;ENSP00000311554:R193H	ENSP00000311554:R193H	R	+	2	0	CTH	70668651	1.000000	0.71417	0.976000	0.42696	0.086000	0.17979	3.131000	0.50515	2.732000	0.93576	0.650000	0.86243	CGT		0.343	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		A	70896063	G	A	70896063	3	1	635	1	0	0	0	0	1	0	0	0	4011	1145	40	1	736	1	CTH	1	70896063	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	13544353	70896063	178354558	3	34534											
BAT2L2	23215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171556219	171556219	+	Silent	SNP	T	T	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr1:171556219T>A	ENST00000338920.4	+	31	8058	c.7821T>A	c.(7819-7821)ccT>ccA	p.P2607P	PRRC2C_ENST00000392078.3_Silent_p.P2609P|PRRC2C_ENST00000426496.2_Silent_p.P2542P|PRRC2C_ENST00000367742.3_Silent_p.P2609P	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2607	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P2609P(2)									TTGCTTTGCCTCAGACTCTTC	0.463																																																2	Substitution - coding silent(2)	kidney(2)											94	80	85					1																	171556219		2203	4300	6503	SO:0001819	synonymous_variant	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7821T>A	1.37:g.171556219T>A			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	T	11.18	1.561425	0.27915	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.04	-1.82	0.07857	.	.	.	.	.	T	0.21631	0.0521	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32508	-0.9904	4	.	.	.	.	0.657	0.00836	0.3274:0.1859:0.1112:0.3756	.	.	.	.	H	1090	.	.	L	+	2	0	PRRC2C	169822843	0.945000	0.32115	0.997000	0.53966	0.996000	0.88848	-0.099000	0.11007	-0.239000	0.09710	0.377000	0.23210	CTC		0.463	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		A	171556219	T	A	171556219	2	1	635	1	0	0	0	0	0	0	0	1	1321	1538	54	5		5	BAT2L2	1	171556219	Silent	SNP	T	TCGA-EU-5906-01A-11D-1669-08	100660156	171556219	77694402	4	34535											
C1orf31	388753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234509989	234509989	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr1:234509989G>T	ENST00000366613.1	+	2	172	c.136G>T	c.(136-138)Gga>Tga	p.G46*	COA6_ENST00000366612.1_5'UTR|RP5-827C21.4_ENST00000451795.1_RNA|RP5-827C21.6_ENST00000610233.1_RNA|COA6_ENST00000366615.4_Nonsense_Mutation_p.G76*	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	46						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)	p.G46*(1)									CATCGCAGTAGGAATGGCAGC	0.438																																																1	Substitution - Nonsense(1)	kidney(1)											55	63	61					1																	234509989		2203	4300	6503	SO:0001587	stop_gained	0				CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"Mitochondrial respiratory chain complex assembly factors"	18025	protein-coding gene	gene with protein product		614772	"chromosome 1 open reading frame 31"	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.136G>T	1.37:g.234509989G>T	ENSP00000355572:p.Gly46*		Q5JTJ2|Q5JTJ4|Q8TA88	Nonsense_Mutation	SNP	ENST00000366613.1	37	CCDS31059.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295101	0.81025	.	.	ENSG00000168275	ENST00000366615;ENST00000424237;ENST00000366613	.	.	.	4.8	3.8	0.43715	.	0.536654	0.16356	N	0.217997	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.1624	0.31207	0.1902:0.0:0.8098:0.0	.	.	.	.	X	76;77;46	.	ENSP00000355572:G46X	G	+	1	0	C1orf31	232576612	0.961000	0.32948	0.939000	0.37840	0.593000	0.36681	2.188000	0.42612	2.469000	0.83416	0.655000	0.94253	GGA		0.438	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1	NM_001012985		T	234509989	G	T	234509989	4	4	635	1	0	0	0	0	0	1	0	0	2039	1001	35	4	142	4	C1orf31	1	234509989	Nonsense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	62953770	234509989	14740632	5	34536											
MAP4K4	9448	broad.mit.edu	37	2	102486844	102486844	+	Silent	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:102486844C>G	ENST00000347699.4	+	21	2484	c.2484C>G	c.(2482-2484)acC>acG	p.T828T	MAP4K4_ENST00000413150.2_Silent_p.T743T|MAP4K4_ENST00000350198.4_Silent_p.T747T|MAP4K4_ENST00000456652.1_Silent_p.T627T|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000324219.4_Silent_p.T909T|MAP4K4_ENST00000350878.4_Silent_p.T804T|MAP4K4_ENST00000302217.5_Silent_p.T631T|MAP4K4_ENST00000425019.1_Silent_p.T797T	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	828					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.T909T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGGCCATGACCCCATCCAAGG	0.483																																																1	Substitution - coding silent(1)	kidney(1)											70	72	71					2																	102486844		1963	4160	6123	SO:0001819	synonymous_variant	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2484C>G	2.37:g.102486844C>G			O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931344	0.18131	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.34	-2.23	0.06930	.	.	.	.	.	T	0.50103	0.1596	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43261	-0.9402	4	.	.	.	.	6.1104	0.20097	0.0:0.3574:0.2296:0.4129	.	.	.	.	A	645	.	.	P	+	1	0	MAP4K4	101853276	0.011000	0.17503	0.991000	0.47740	0.963000	0.63663	-1.091000	0.03369	-0.249000	0.09569	-0.885000	0.02943	CCC		0.483	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		G	102486844	C	G	102486844	2	3	635	1	0	0	0	0	0	0	0	1	9264	610	22	4		4	MAP4K4	2	102486844	Silent	SNP	C	TCGA-EU-5906-01A-11D-1669-08		102486844	140712529	6	34537											
ZEB2	9839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	145157472	145157472	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:145157472C>G	ENST00000558170.2	-	8	2466	c.1282G>C	c.(1282-1284)Gtt>Ctt	p.V428L	ZEB2_ENST00000409487.3_Missense_Mutation_p.V428L|ZEB2_ENST00000539609.3_Missense_Mutation_p.V404L|ZEB2_ENST00000303660.4_Missense_Mutation_p.V428L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	428					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.V428L(1)|p.V428I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GATGGATGAACTCCTAAAGGG	0.458																																					Melanoma(33;1235 1264 5755 16332)											2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											64	69	67					2																	145157472		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1282G>C	2.37:g.145157472C>G	ENSP00000454157:p.Val428Leu		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307316	0.23821	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.13089	2.64;2.62;2.62;2.79;2.79	5.53	5.53	0.82687	.	0.113341	0.64402	D	0.000008	T	0.10852	0.0265	N	0.19112	0.55	0.46725	D	0.999177	B;B;B;B	0.20052	0.041;0.014;0.014;0.002	B;B;B;B	0.25291	0.059;0.021;0.008;0.015	T	0.10268	-1.0637	10	0.48119	T	0.1	-7.6837	12.7659	0.57391	0.0:0.925:0.0:0.075	.	404;293;427;428	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	L	404;428;428;428;428	ENSP00000443792:V404L;ENSP00000302501:V428L;ENSP00000386854:V428L;ENSP00000395496:V428L;ENSP00000376601:V428L	ENSP00000302501:V428L	V	-	1	0	ZEB2	144873942	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.644000	0.46613	2.587000	0.87381	0.655000	0.94253	GTT		0.458	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		G	145157472	C	G	145157472	3	3	635	1	0	0	0	0	1	0	0	0	17629	565	20	4	2374	4	ZEB2	2	145157472	Missense_Mutation	SNP	C	TCGA-EU-5906-01A-11D-1669-08	42670628	145157472	98041901	7	34538											
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179422748	179422748	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:179422748G>C	ENST00000591111.1	-	278	82634	c.82410C>G	c.(82408-82410)gaC>gaG	p.D27470E	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D20046E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D20238E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D26543E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D29111E|TTN_ENST00000359218.5_Missense_Mutation_p.D20171E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27470					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)	p.D20171E(1)|p.D20171D(1)|p.D20238D(1)|p.D20238E(1)|p.D26541E(1)|p.D26541D(1)|p.D26543E(1)|p.D26543D(1)|p.D20046E(1)|p.D20046D(1)		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)			ATCTCCCAGCGTCAGCTGTAA	0.458																																																10	Substitution - Missense(5)|Substitution - coding silent(5)	breast(5)|kidney(5)											130	128	129					2																	179422748		1908	4129	6037	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82410C>G	2.37:g.179422748G>C	ENSP00000465570:p.Asp27470Glu		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.61	2.587390	0.46110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.63	2.02	0.26589	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87838	0.6278	M	0.80508	2.5	0.46096	D	0.998868	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.86527	0.1819	9	0.87932	D	0	.	8.7533	0.34631	0.7794:0.0:0.2206:0.0	.	20046;20171;20238;27470	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	26543;20046;20238;20171;20043	ENSP00000343764:D26543E;ENSP00000434586:D20046E;ENSP00000340554:D20238E;ENSP00000352154:D20171E	ENSP00000340554:D20238E	D	-	3	2	TTN	179130994	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.004000	0.49513	0.519000	0.28406	-0.339000	0.08088	GAC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179422748	G	C	179422748	3	2	635	1	0	0	0	0	1	0	0	0	16740	1136	40	4	20786	4	TTN	2	179422748	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	34265276	179422748	63776625	8	34539											
TTN	7273	broad.mit.edu;ucsc.edu	37	2	179439235	179439235	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:179439235G>T	ENST00000591111.1	-	276	66925	c.66701C>A	c.(66700-66702)aCt>aAt	p.T22234N	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T14810N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15002N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21307N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T23875N|TTN_ENST00000359218.5_Missense_Mutation_p.T14935N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22234	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T21305N(1)|p.T21307N(1)|p.T14810N(1)|p.T15002N(1)|p.T14935N(1)		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)			TTTGCTCACAGTCTGCCAGAG	0.423																																																5	Substitution - Missense(5)	kidney(5)											201	199	200					2																	179439235		1910	4116	6026	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66701C>A	2.37:g.179439235G>T	ENSP00000465570:p.Thr22234Asn		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	8.980	0.975067	0.18736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.7	3.89	0.44902	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37758	0.1015	N	0.20357	0.565	0.32565	N	0.53057	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.44097	-0.9350	9	0.87932	D	0	.	9.8501	0.41051	0.066:0.0:0.6855:0.2485	.	14810;14935;15002;22234	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	21307;14810;15002;14935;14808	ENSP00000343764:T21307N;ENSP00000434586:T14810N;ENSP00000340554:T15002N;ENSP00000352154:T14935N	ENSP00000340554:T15002N	T	-	2	0	TTN	179147481	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.553000	0.53713	0.748000	0.32831	0.650000	0.86243	ACT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179439235	G	T	179439235	3	4	635	1	0	0	0	0	1	0	0	0	16740	1029	36	4	36503	4	TTN	2	179439235	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	16487	179439235	63760138	9	34540											
CUL3	8452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225342980	225342980	+	Silent	SNP	T	T	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:225342980T>C	ENST00000264414.4	-	15	2450	c.2112A>G	c.(2110-2112)gaA>gaG	p.E704E	CUL3_ENST00000344951.4_Silent_p.E638E|CUL3_ENST00000409096.1_Silent_p.E680E|CUL3_ENST00000409777.1_Silent_p.E680E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	704					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.E704E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTATAGCAGCTTCTATCTCAT	0.403																																																1	Substitution - coding silent(1)	kidney(1)											199	180	186					2																	225342980		2203	4300	6503	SO:0001819	synonymous_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2112A>G	2.37:g.225342980T>C			A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Silent	SNP	ENST00000264414.4	37	CCDS2462.1																																																																																				0.403	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			C	225342980	T	C	225342980	2	2	635	1	0	0	0	0	0	0	0	1	4058	1606	56	3		3	CUL3	2	225342980	Silent	SNP	T	TCGA-EU-5906-01A-11D-1669-08	45903745	225342980	17856393	10	34541											
GBX2	2637	broad.mit.edu	37	2	237076427	237076435	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs557135639|rs559648034	byFrequency	TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	GGCGGCGGC	GGCGGCGGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:237076427_237076435delGGCGGCGGC	ENST00000306318.4	-	1	577_585	c.180_188delGCCGCCGCC	c.(178-189)ccgccgccgccc>ccc	p.60_63PPPP>P	AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'Flank|GBX2_ENST00000551105.1_In_Frame_Del_p.60_63PPPP>P|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	60	Poly-Pro.				autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGCAGCGCGggcggcggcggcggcggcg	0.746														4	0.000798722	0.0	0.0014	5008	,	,		8296	0.0		0.0	False		,,,				2504	0.0031															0										13,20,1327		6,0,1,5,10,658						2.9	1			4	29,61,3590		11,0,7,20,21,1781	no	codingComplex	GBX2	NM_001485.2		17,0,8,25,31,2439	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4457,2.4265,2.4405				42,81,4917				SO:0001651	inframe_deletion	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.180_188delGCCGCCGCC	2.37:g.237076436_237076444delGGCGGCGGC	ENSP00000302251:p.Pro60_Pro62del		B2RPH7|O43833|Q53RX5|Q9Y5Y1	In_Frame_Del	DEL	ENST00000306318.4	37	CCDS2515.1																																																																																				0.746	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		-	237076435	GGCGGCGGC	-	237076427	7	5	635	1	0	1	0	1	0	0	0	0	6283	1232	43	0	866	0	GBX2	2	237076427	In_Frame_Del	DEL	GGCGGCGGC	TCGA-EU-5906-01A-11D-1669-08	11733447	237076427	6122946	11	34542											
VHL	7428	hgsc.bcm.edu	37	3	10191572	10191572	+	Missense_Mutation	SNP	G	G	C	rs121913345		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr3:10191572G>C	ENST00000256474.2	+	3	1405	c.565G>C	c.(565-567)Gaa>Caa	p.E189Q	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.E148Q	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	189					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E189K(3)|p.E189*(2)|p.E189fs*12(1)|p.E189fs*13(1)|p.E189fs*25(1)|p.Y185fs*11(1)|p.L188>?(1)|p.D187_N193del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGAAGATCTGGAAGACCACCC	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	11	Deletion - Frameshift(4)|Substitution - Missense(3)|Substitution - Nonsense(2)|Complex(1)|Deletion - In frame(1)	kidney(11)	GRCh37	CD983007	VHL	D							77	70	72					3																	10191572		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.565G>C	3.37:g.10191572G>C	ENSP00000256474:p.Glu189Gln		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806021	0.90623	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99824	-6.96;-6.96	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.057481	0.64402	D	0.000002	D	0.99658	0.9873	L	0.51422	1.61	0.43637	D	0.996037	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97385	0.9985	10	0.46703	T	0.11	-3.955	16.1249	0.81386	0.0:0.0:1.0:0.0	.	148;189	P40337-2;P40337	.;VHL_HUMAN	Q	189;148;107	ENSP00000256474:E189Q;ENSP00000344757:E148Q	ENSP00000256474:E189Q	E	+	1	0	VHL	10166572	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.062000	0.76706	2.735000	0.93741	0.655000	0.94253	GAA		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		C	10191572	G	C	10191572	3	2	635	1	0	0	0	0	1	0	0	0	17167	1175	41	4	575	4	VHL	3	10191572	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08		10191572	187830858	12	34543											
OXSM	54995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	25835880	25835880	+	Silent	SNP	T	T	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr3:25835880T>G	ENST00000280701.3	+	3	1374	c.1275T>G	c.(1273-1275)gtT>gtG	p.V425V	OXSM_ENST00000420173.2_Silent_p.V342V	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	425					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.V425V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCAACTATGTTCCACTAAAGG	0.393																																																1	Substitution - coding silent(1)	kidney(1)											94	99	97					3																	25835880		2203	4300	6503	SO:0001819	synonymous_variant	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"beta-ketoacyl synthase"	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.1275T>G	3.37:g.25835880T>G				Silent	SNP	ENST00000280701.3	37	CCDS2643.1																																																																																				0.393	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		G	25835880	T	G	25835880	2	3	635	1	0	0	0	0	0	0	0	1	11337	1770	62	5		5	OXSM	3	25835880	Silent	SNP	T	TCGA-EU-5906-01A-11D-1669-08	15644308	25835880	172186550	13	34544											
USP4	7375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49337921	49337921	+	Silent	SNP	G	G	A	rs142071789		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr3:49337921G>A	ENST00000265560.4	-	11	1537	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	USP4_ENST00000488520.1_5'Flank|USP4_ENST00000351842.4_Silent_p.D450D	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	497	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D497D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGCAGTGAGGGTCAGCAGGAA	0.522																																																1	Substitution - coding silent(1)	kidney(1)											127	124	125					3																	49337921		2203	4300	6503	SO:0001819	synonymous_variant	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1491C>T	3.37:g.49337921G>A			A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	8.761	0.923631	0.18056	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.93	2.63	0.31362	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54050	-0.8351	4	.	.	.	-30.2844	9.5645	0.39389	0.317:0.0:0.683:0.0	.	.	.	.	S	236	.	.	P	-	1	0	USP4	49312925	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.269000	0.33074	0.758000	0.33059	-0.367000	0.07326	CCC		0.522	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		A	49337921	G	A	49337921	2	1	635	1	0	0	0	0	0	0	0	1	17076	1252	44	2		2	USP4	3	49337921	Silent	SNP	G	TCGA-EU-5906-01A-11D-1669-08	23502041	49337921	148684509	14	34545											
FILIP1L	11259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	99568696	99568696	+	Silent	SNP	A	A	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr3:99568696A>G	ENST00000354552.3	-	5	2294	c.1824T>C	c.(1822-1824)aaT>aaC	p.N608N	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Silent_p.N368N|FILIP1L_ENST00000331335.5_Silent_p.N608N|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Silent_p.N368N|FILIP1L_ENST00000487087.1_Silent_p.N184N	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	608						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N608N(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CAGAGTCTTGATTTAATTTGT	0.343																																																2	Substitution - coding silent(2)	kidney(2)											124	115	118					3																	99568696		1827	4077	5904	SO:0001819	synonymous_variant	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1824T>C	3.37:g.99568696A>G			B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	CCDS43117.1																																																																																				0.343	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		G	99568696	A	G	99568696	2	3	635	1	0	0	0	0	0	0	0	1	5897	330	12	3		3	FILIP1L	3	99568696	Silent	SNP	A	TCGA-EU-5906-01A-11D-1669-08	50230775	99568696	98453734	15	34546											
POLQ	10721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121208546	121208546	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr3:121208546A>T	ENST00000264233.5	-	16	3360	c.3232T>A	c.(3232-3234)Tgt>Agt	p.C1078S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1078					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.C1213S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGGTCTTCACAAAGACTAGGA	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											1	Substitution - Missense(1)	kidney(1)											57	65	62					3																	121208546		2193	4296	6489	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3232T>A	3.37:g.121208546A>T	ENSP00000264233:p.Cys1078Ser		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	A	3.866	-0.028868	0.07589	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.47177	0.85	4.32	0.0515	0.14298	.	1.026350	0.07674	N	0.935982	T	0.28962	0.0719	L	0.32530	0.975	0.09310	N	0.999997	B;P	0.41848	0.255;0.763	B;B	0.39027	0.053;0.288	T	0.13388	-1.0511	10	0.11485	T	0.65	.	2.4075	0.04416	0.6059:0.1546:0.0895:0.15	.	1078;250	O75417;O75417-2	DPOLQ_HUMAN;.	S	701;1078;1214	ENSP00000264233:C1078S	ENSP00000264233:C1078S	C	-	1	0	POLQ	122691236	0.000000	0.05858	0.554000	0.28268	0.060000	0.15804	0.029000	0.13666	0.250000	0.21479	0.460000	0.39030	TGT		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		T	121208546	A	T	121208546	3	4	635	1	0	0	0	0	1	0	0	0	12210	130	5	5	4600	5	POLQ	3	121208546	Missense_Mutation	SNP	A	TCGA-EU-5906-01A-11D-1669-08	21639850	121208546	76813884	16	34547											
GABRG1	2565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	46043110	46043110	+	Silent	SNP	C	C	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr4:46043110C>T	ENST00000295452.4	-	9	1460	c.1293G>A	c.(1291-1293)agG>agA	p.R431R		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	431					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R431R(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTATGTGTATCCTTCCTTCCC	0.413																																																1	Substitution - coding silent(1)	kidney(1)											131	132	132					4																	46043110		2203	4300	6503	SO:0001819	synonymous_variant	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1293G>A	4.37:g.46043110C>T			Q5H9T8	Silent	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217595	0.22373	.	.	ENSG00000163285	ENST00000540030	.	.	.	5.49	-0.0163	0.13973	.	.	.	.	.	T	0.47985	0.1475	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21042	-1.0257	5	0.17369	T	0.5	.	9.5685	0.39414	0.0:0.4397:0.0:0.5603	.	.	.	.	N	412	.	ENSP00000445441:D412N	D	-	1	0	GABRG1	45737867	0.962000	0.33011	0.979000	0.43373	0.988000	0.76386	0.158000	0.16422	0.010000	0.14839	0.585000	0.79938	GAT		0.413	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		T	46043110	C	T	46043110	2	4	635	1	0	0	0	0	0	0	0	1	6173	854	30	2		2	GABRG1	4	46043110	Silent	SNP	C	TCGA-EU-5906-01A-11D-1669-08		46043110	145111166	17	34548											
TEC	7006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	48170607	48170607	+	Missense_Mutation	SNP	T	T	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr4:48170607T>G	ENST00000381501.3	-	6	648	c.491A>C	c.(490-492)aAg>aCg	p.K164T		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	164					B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.K164T(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ACCTACCTTCTTTGTTTCTGG	0.323																																																1	Substitution - Missense(1)	kidney(1)											115	104	108					4																	48170607		2203	4300	6503	SO:0001583	missense	100124696			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.491A>C	4.37:g.48170607T>G	ENSP00000370912:p.Lys164Thr		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	T	9.500	1.103058	0.20632	.	.	ENSG00000135605	ENST00000381501	T	0.16196	2.36	5.14	3.87	0.44632	Src homology-3 domain (1);	0.740503	0.12303	N	0.480934	T	0.07143	0.0181	N	0.08118	0	0.27018	N	0.964538	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	10	0.18276	T	0.48	.	3.613	0.08067	0.3282:0.0968:0.0:0.575	.	164	P42680	TEC_HUMAN	T	164	ENSP00000370912:K164T	ENSP00000370912:K164T	K	-	2	0	TEC	47865364	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	0.944000	0.29043	2.062000	0.61559	0.383000	0.25322	AAG		0.323	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			G	48170607	T	G	48170607	3	3	635	1	0	0	0	0	1	0	0	0	15747	1609	56	5	1456	5	TEC	4	48170607	Missense_Mutation	SNP	T	TCGA-EU-5906-01A-11D-1669-08	2127497	48170607	142983669	18	34549											
SPINK2	6691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57677912	57677912	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr4:57677912G>C	ENST00000248701.4	-	3	227	c.148C>G	c.(148-150)Cct>Gct	p.P50A	SPINK2_ENST00000504762.1_Missense_Mutation_p.P85A|SPINK2_ENST00000506738.1_Missense_Mutation_p.P100A	NM_021114.2	NP_066937.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	50	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P50A(1)		kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					CCACACACAGGGTTAAAGTGT	0.403																																																1	Substitution - Missense(1)	kidney(1)											147	144	145					4																	57677912		2203	4300	6503	SO:0001583	missense	6691			BC022514	CCDS3508.1, CCDS63971.1, CCDS63972.1, CCDS75128.1	4q12	2011-08-31	2005-08-17		ENSG00000128040	ENSG00000128040		"Serine peptidase inhibitors, Kazal type"	11245	protein-coding gene	gene with protein product		605753	"serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)"			8428671	Standard	NM_001271718		Approved	HUSI-II	uc031sep.1	P20155	OTTHUMG00000128769	ENST00000248701.4:c.148C>G	4.37:g.57677912G>C	ENSP00000248701:p.Pro50Ala		Q6FGH2	Missense_Mutation	SNP	ENST00000248701.4	37	CCDS3508.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768812	0.49680	.	.	ENSG00000128040	ENST00000248701;ENST00000506738;ENST00000504762	D;D;D	0.85171	-1.95;-1.95;-1.95	5.26	5.26	0.73747	Proteinase inhibitor I1, Kazal (3);	0.000000	0.85682	D	0.000000	D	0.91801	0.7406	.	.	.	0.46298	D	0.998975	D	0.89917	1.0	D	0.91635	0.999	D	0.91930	0.5554	9	0.59425	D	0.04	-26.9115	14.2953	0.66308	0.0:0.0:1.0:0.0	.	50	P20155	ISK2_HUMAN	A	50;100;85	ENSP00000248701:P50A;ENSP00000425961:P100A;ENSP00000423858:P85A	ENSP00000248701:P50A	P	-	1	0	SPINK2	57372669	1.000000	0.71417	0.907000	0.35723	0.165000	0.22458	3.273000	0.51623	2.749000	0.94314	0.644000	0.83932	CCT		0.403	SPINK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250690.2	NM_021114		C	57677912	G	C	57677912	3	2	635	1	0	0	0	0	1	0	0	0	15065	1232	43	4	114	4	SPINK2	4	57677912	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	9507305	57677912	133476364	19	34550											
ADAMTS12	81792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33637849	33637849	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:33637849G>C	ENST00000504830.1	-	12	2056	c.1721C>G	c.(1720-1722)cCa>cGa	p.P574R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P574R|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	574	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P574R(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCAAACTTTGGCCTGCAAAT	0.463										HNSCC(64;0.19)																																						1	Substitution - Missense(1)	kidney(1)											82	76	78					5																	33637849		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1721C>G	5.37:g.33637849G>C	ENSP00000422554:p.Pro574Arg		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921590	0.92319	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.08008	3.14;3.14	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.61093	-0.7132	10	0.87932	D	0	.	20.6398	0.99548	0.0:0.0:1.0:0.0	.	574;574	P58397-3;P58397	.;ATS12_HUMAN	R	574	ENSP00000422554:P574R;ENSP00000344847:P574R	ENSP00000344847:P574R	P	-	2	0	ADAMTS12	33673606	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.619000	0.98369	2.881000	0.98747	0.650000	0.86243	CCA		0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		C	33637849	G	C	33637849	3	2	635	1	0	0	0	0	1	0	0	0	257	1348	47	4	3115	4	ADAMTS12	5	33637849	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08		33637849	147277411	20	34551											
ERBB2IP	55914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	65350483	65350483	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:65350483G>A	ENST00000284037.5	+	21	3726	c.3337G>A	c.(3337-3339)Gcg>Acg	p.A1113T	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.A1109T|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.A1113T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1113					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.A1113T(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GTTCCACTCAGCGGGAAGAAC	0.493																																																1	Substitution - Missense(1)	kidney(1)											59	56	57					5																	65350483		2203	4300	6503	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3337G>A	5.37:g.65350483G>A	ENSP00000284037:p.Ala1113Thr		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.95|11.95	1.791822|1.791822	0.31685|0.31685	.|.	.|.	ENSG00000112851|ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515|ENST00000511671	T;T;T;T;T;T;T;T;T|T	0.38240|0.31510	1.38;1.38;1.38;1.57;1.15;1.45;1.38;1.41;1.15|1.49	5.76|5.76	3.97|3.97	0.46021|0.46021	.|.	0.551531|.	0.20611|.	N|.	0.088970|.	T|T	0.21761|0.21761	0.0524|0.0524	N|N	0.14661|0.14661	0.345|0.345	0.21719|0.21719	N|N	0.999571|0.999571	B;B;B;B;B;B;B|.	0.15930|.	0.015;0.009;0.005;0.005;0.006;0.015;0.015|.	B;B;B;B;B;B;B|.	0.26310|.	0.068;0.031;0.027;0.011;0.006;0.046;0.046|.	T|T	0.15867|0.15867	-1.0422|-1.0422	10|7	0.22109|0.72032	T|D	0.4|0.01	.|.	7.7853|7.7853	0.29089|0.29089	0.2724:0.0:0.7276:0.0|0.2724:0.0:0.7276:0.0	.|.	1113;1113;1113;1109;1113;1113;1113|.	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2|.	.;.;.;.;LAP2_HUMAN;.;.|.	T|N	1113;1113;1113;1113;1113;1113;1109;1113;1113|8	ENSP00000284037:A1113T;ENSP00000370330:A1113T;ENSP00000370326:A1113T;ENSP00000370323:A1113T;ENSP00000370322:A1113T;ENSP00000370325:A1113T;ENSP00000422766:A1109T;ENSP00000426632:A1113T;ENSP00000422015:A1113T|ENSP00000425728:S8N	ENSP00000284037:A1113T|ENSP00000425728:S8N	A|S	+|+	1|2	0|0	ERBB2IP|ERBB2IP	65386239|65386239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.371000|2.371000	0.44248|0.44248	1.436000|1.436000	0.47453|0.47453	0.650000|0.650000	0.86243|0.86243	GCG|AGC		0.493	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		A	65350483	G	A	65350483	3	1	635	1	0	0	0	0	1	0	0	0	5209	971	34	2	3411	2	ERBB2IP	5	65350483	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	31712634	65350483	115564777	21	34552											
SERINC5	256987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	79473191	79473191	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:79473191C>G	ENST00000507668.2	-	4	553	c.403G>C	c.(403-405)Ggg>Cgg	p.G135R	SERINC5_ENST00000512972.2_Missense_Mutation_p.G135R|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512721.1_Missense_Mutation_p.G135R|SERINC5_ENST00000509193.1_Missense_Mutation_p.G135R	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	135					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)	p.G134R(1)|p.G135R(1)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CACATGGCCCCCAACAGCAGA	0.403																																																2	Substitution - Missense(2)	kidney(2)											101	92	95					5																	79473191		1839	4093	5932	SO:0001583	missense	256987			AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"chromosome 5 open reading frame 12"	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.403G>C	5.37:g.79473191C>G	ENSP00000426237:p.Gly135Arg		B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068345	0.76301	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.36	5.36	0.76844	.	0.455087	0.25555	N	0.029868	T	0.20740	0.0499	L	0.50333	1.59	0.40486	D	0.980493	P;P;P;D	0.55800	0.952;0.594;0.942;0.973	P;B;P;P	0.49887	0.625;0.308;0.619;0.625	T	0.00361	-1.1789	10	0.62326	D	0.03	.	12.7758	0.57445	0.0:0.9248:0.0:0.0752	.	135;135;135;135	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	R	135;134;135;135;135	ENSP00000426237:G135R;ENSP00000426134:G135R;ENSP00000421665:G135R;ENSP00000420863:G135R	ENSP00000327542:G134R	G	-	1	0	SERINC5	79508947	0.982000	0.34865	1.000000	0.80357	0.986000	0.74619	2.110000	0.41873	2.671000	0.90904	0.655000	0.94253	GGG		0.403	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276		G	79473191	C	G	79473191	3	3	635	1	0	0	0	0	1	0	0	0	14089	623	22	4	1056	4	SERINC5	5	79473191	Missense_Mutation	SNP	C	TCGA-EU-5906-01A-11D-1669-08	14122708	79473191	101442069	22	34553											
CSNK1A1	1452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	148904678	148904678	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:148904678C>A	ENST00000377843.2	-	3	766	c.287G>T	c.(286-288)aGc>aTc	p.S96I	CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S96I|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.S7I|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.S7I|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.S96I	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	96	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S96I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTCTTCGAGGCTAGGTCCCAG	0.363																																					Colon(5;64 69 1309 10383)											2	Substitution - Missense(2)	kidney(2)											67	66	67					5																	148904678		2179	4292	6471	SO:0001583	missense	1452			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"clock regulator kinase"	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.287G>T	5.37:g.148904678C>A	ENSP00000367074:p.Ser96Ile		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456778	0.96223	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.73094	0.3543	H	0.99368	4.535	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.997;0.984;0.997	D	0.85132	0.0975	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	7;96;96;96;7	B4DER9;Q71TU5;P48729;P48729-2;D6REM4	.;.;KC1A_HUMAN;.;.	I	96;96;7;7;96;96	ENSP00000261798:S96I;ENSP00000367074:S96I;ENSP00000426747:S7I;ENSP00000427031:S7I;ENSP00000421689:S96I	ENSP00000261798:S96I	S	-	2	0	CSNK1A1	148884871	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	AGC		0.363	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		A	148904678	C	A	148904678	3	1	635	1	0	0	0	0	1	0	0	0	3952	797	28	4	846	4	CSNK1A1	5	148904678	Missense_Mutation	SNP	C	TCGA-EU-5906-01A-11D-1669-08	69431487	148904678	32010582	23	34554											
SLC36A1	206358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150856274	150856274	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:150856274G>A	ENST00000243389.3	+	9	1169	c.946G>A	c.(946-948)Gct>Act	p.A316T	SLC36A1_ENST00000521925.1_Missense_Mutation_p.A316T|RNA5SP197_ENST00000363357.1_RNA|SLC36A1_ENST00000520701.1_Missense_Mutation_p.A316T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	316					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.A316T(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GCAATTTGGAGCTAATATCCA	0.512																																					Melanoma(151;1534 1860 12947 32979 37872)											1	Substitution - Missense(1)	kidney(1)											144	115	125					5																	150856274		2203	4300	6503	SO:0001583	missense	206358			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.946G>A	5.37:g.150856274G>A	ENSP00000243389:p.Ala316Thr		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425014	0.43020	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.02236	4.38;4.38;4.38;4.38	5.76	4.89	0.63831	.	0.265474	0.37437	N	0.002087	T	0.03011	0.0089	L	0.51914	1.62	0.33680	D	0.612004	B;B	0.17038	0.01;0.02	B;B	0.18871	0.023;0.023	T	0.13469	-1.0508	10	0.36615	T	0.2	.	9.0411	0.36319	0.0679:0.0:0.67:0.262	.	316;316	E7EW39;Q7Z2H8	.;S36A1_HUMAN	T	316;316;316;316;75	ENSP00000428140:A316T;ENSP00000243389:A316T;ENSP00000430305:A316T;ENSP00000428738:A75T	ENSP00000243389:A316T	A	+	1	0	SLC36A1	150836467	0.984000	0.35163	0.982000	0.44146	0.818000	0.46254	1.519000	0.35888	1.420000	0.47138	-0.169000	0.13324	GCT		0.512	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		A	150856274	G	A	150856274	3	1	635	1	0	0	0	0	1	0	0	0	14599	971	34	2	976	2	SLC36A1	5	150856274	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	1951596	150856274	30058986	24	34555											
ADAMTS2	9509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178557016	178557016	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:178557016C>T	ENST00000251582.7	-	16	2475	c.2374G>A	c.(2374-2376)Ggc>Agc	p.G792S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	792	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G792S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACTCCACGCCCATGGCAATG	0.572																																																1	Substitution - Missense(1)	kidney(1)											122	110	114					5																	178557016		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2374G>A	5.37:g.178557016C>T	ENSP00000251582:p.Gly792Ser			Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437666	0.83885	.	.	ENSG00000087116	ENST00000251582	T	0.63417	-0.04	5.09	5.09	0.68999	ADAM-TS Spacer 1 (1);	0.000000	0.56097	D	0.000032	T	0.81297	0.4793	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84274	0.0490	10	0.87932	D	0	.	17.8402	0.88713	0.0:1.0:0.0:0.0	.	792	O95450	ATS2_HUMAN	S	792	ENSP00000251582:G792S	ENSP00000251582:G792S	G	-	1	0	ADAMTS2	178489622	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.779000	0.68948	2.523000	0.85059	0.462000	0.41574	GGC		0.572	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		T	178557016	C	T	178557016	3	4	635	1	0	0	0	0	1	0	0	0	265	623	22	2	1289	2	ADAMTS2	5	178557016	Missense_Mutation	SNP	C	TCGA-EU-5906-01A-11D-1669-08	27700742	178557016	2358244	25	34556											
GFOD1	54438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	13365468	13365468	+	Missense_Mutation	SNP	A	A	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr6:13365468A>G	ENST00000379287.3	-	2	1344	c.680T>C	c.(679-681)cTg>cCg	p.L227P	GFOD1_ENST00000379284.1_Missense_Mutation_p.L124P	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	227						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.L227P(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CCCGCCCTCCAGCACCATCTG	0.617																																																1	Substitution - Missense(1)	kidney(1)											89	77	81					6																	13365468		2203	4300	6503	SO:0001583	missense	54438			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.680T>C	6.37:g.13365468A>G	ENSP00000368589:p.Leu227Pro		A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154288	0.78114	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.47869	0.83;0.83	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.56093	0.1962	L	0.55213	1.73	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.61633	-0.7023	10	0.87932	D	0	-13.8618	15.2091	0.73206	1.0:0.0:0.0:0.0	.	227	Q9NXC2	GFOD1_HUMAN	P	227;124	ENSP00000368589:L227P;ENSP00000368586:L124P	ENSP00000368586:L124P	L	-	2	0	GFOD1	13473447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.173000	0.68751	0.528000	0.53228	CTG		0.617	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		G	13365468	A	G	13365468	3	3	635	1	0	0	0	0	1	0	0	0	6345	188	7	3	496	3	GFOD1	6	13365468	Missense_Mutation	SNP	A	TCGA-EU-5906-01A-11D-1669-08		13365468	157749599	26	34557											
CDC40	51362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	110501714	110501714	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr6:110501714G>A	ENST00000368932.1	+	2	168	c.67G>A	c.(67-69)Gac>Aac	p.D23N	WASF1_ENST00000392586.1_5'Flank|WASF1_ENST00000392588.1_5'Flank|WASF1_ENST00000392589.1_5'Flank|CDC40_ENST00000368930.1_Missense_Mutation_p.D23N|CDC40_ENST00000307731.1_Missense_Mutation_p.D23N|WASF1_ENST00000392587.2_5'Flank|WASF1_ENST00000359451.2_5'Flank			O60508	PRP17_HUMAN	cell division cycle 40	23					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.D23N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATCGGACTCGGACAGTGAGAG	0.592																																																1	Substitution - Missense(1)	kidney(1)											58	55	56					6																	110501714		2203	4300	6503	SO:0001583	missense	51362			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.67G>A	6.37:g.110501714G>A	ENSP00000357928:p.Asp23Asn		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114759	0.77210	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165	T;T;T;T	0.61627	0.22;0.09;0.09;0.22	5.54	5.54	0.83059	.	0.200018	0.52532	D	0.000069	T	0.53899	0.1825	N	0.24115	0.695	0.52501	D	0.999955	D	0.63880	0.993	D	0.68192	0.956	T	0.49670	-0.8915	10	0.30854	T	0.27	-8.4761	16.5155	0.84299	0.0:0.0:1.0:0.0	.	23	O60508	PRP17_HUMAN	N	23	ENSP00000357928:D23N;ENSP00000357929:D23N;ENSP00000357926:D23N;ENSP00000304370:D23N	ENSP00000304370:D23N	D	+	1	0	CDC40	110608407	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.761000	0.62243	2.884000	0.98904	0.655000	0.94253	GAC		0.592	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		A	110501714	G	A	110501714	3	1	635	1	0	0	0	0	1	0	0	0	3072	1174	41	2	69	2	CDC40	6	110501714	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	97136246	110501714	60613353	27	34558											
AKAP12	9590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	151671390	151671390	+	Missense_Mutation	SNP	C	C	A	rs143476871		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr6:151671390C>A	ENST00000253332.1	+	3	2053	c.1864C>A	c.(1864-1866)Cgt>Agt	p.R622S	AKAP12_ENST00000402676.2_Missense_Mutation_p.R622S|AKAP12_ENST00000354675.6_Missense_Mutation_p.R524S|AKAP12_ENST00000359755.5_Missense_Mutation_p.R517S			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	622	AKAP 1.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.R622S(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCCCAAGAAGCGTGTTAGACG	0.498																																					Melanoma(141;1616 1805 10049 24534 51979)											1	Substitution - Missense(1)	kidney(1)											64	63	63					6																	151671390		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1864C>A	6.37:g.151671390C>A	ENSP00000253332:p.Arg622Ser		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206146	0.79127	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.52	5.52	0.82312	Protein kinase A anchoring, WSK motif (1);	0.000000	0.39687	N	0.001298	T	0.49881	0.1583	N	0.24115	0.695	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.99;0.997	T	0.39583	-0.9607	10	0.18276	T	0.48	.	19.065	0.93106	0.0:1.0:0.0:0.0	.	517;524;622	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	S	622;622;524;517	ENSP00000384537:R622S;ENSP00000253332:R622S;ENSP00000346702:R524S;ENSP00000352794:R517S	ENSP00000253332:R622S	R	+	1	0	AKAP12	151713083	1.000000	0.71417	0.934000	0.37439	0.385000	0.30292	7.794000	0.85869	2.591000	0.87537	0.650000	0.86243	CGT		0.498	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			A	151671390	C	A	151671390	3	1	635	1	0	0	0	0	1	0	0	0	448	768	27	4	1903	4	AKAP12	6	151671390	Missense_Mutation	SNP	C	TCGA-EU-5906-01A-11D-1669-08	41169676	151671390	19443677	28	34559											
INTS1	26173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	1523722	1523722	+	Missense_Mutation	SNP	C	C	A	rs369814462		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr7:1523722C>A	ENST00000404767.3	-	25	3431	c.3346G>T	c.(3346-3348)Gtg>Ttg	p.V1116L	INTS1_ENST00000389470.4_Missense_Mutation_p.V1278L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1116					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.V1278L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGCTCAGCACGGCGTCCGAC	0.657																																																1	Substitution - Missense(1)	kidney(1)											81	92	88					7																	1523722		2165	4251	6416	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3346G>T	7.37:g.1523722C>A	ENSP00000385722:p.Val1116Leu		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857305	0.71834	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.68181	-0.31;-0.31	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	L	0.40543	1.245	0.80722	D	1	P;P	0.43578	0.811;0.811	P;P	0.54346	0.749;0.591	T	0.70615	-0.4823	10	0.37606	T	0.19	.	17.8815	0.88842	0.0:1.0:0.0:0.0	.	1284;1116	A4D213;Q8N201	.;INT1_HUMAN	L	1116;1278	ENSP00000385722:V1116L;ENSP00000374121:V1278L	ENSP00000374121:V1278L	V	-	1	0	INTS1	1490248	1.000000	0.71417	0.299000	0.25016	0.458000	0.32498	7.433000	0.80362	2.226000	0.72624	0.462000	0.41574	GTG		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			A	1523722	C	A	1523722	3	1	635	1	0	0	0	0	1	0	0	0	7777	536	19	4	3322	4	INTS1	7	1523722	Missense_Mutation	SNP	C	TCGA-EU-5906-01A-11D-1669-08		1523722	157614941	29	34560											
ANKIB1	54467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92027037	92027038	+	Splice_Site	DEL	AT	AT	-			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr7:92027037_92027038delAT	ENST00000265742.3	+	19	2772_2773	c.2396_2397delAT	c.(2395-2397)gat>g	p.D799fs		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	799							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTGAAACAGATATTCCAGAAG	0.441																																																0																																										SO:0001630	splice_region_variant	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2396-1AT>-	7.37:g.92027039_92027040delAT			Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Frame_Shift_Del	DEL	ENST00000265742.3	37	CCDS47639.1																																																																																				0.441	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1		Frame_Shift_Del	-	92027038	AT	-	92027037	8	5	635	1	0	1	0	1	0	0	1	0	630	347	12	0	2466	0	ANKIB1	7	92027037	Splice_Site	DEL	AT	TCGA-EU-5906-01A-11D-1669-08	90503315	92027037	67111626	30	34561											
NUDCD1	84955	hgsc.bcm.edu;ucsc.edu	37	8	110346160	110346161	+	Frame_Shift_Del	DEL	AG	AG	-	rs201844231		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr8:110346160_110346161delAG	ENST00000239690.4	-	1	453_454	c.79_80delCT	c.(79-81)cttfs	p.L27fs	ENY2_ENST00000521662.1_5'Flank|ENY2_ENST00000520147.1_5'Flank|ENY2_ENST00000521688.1_5'Flank	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CAGCGGCTCAAGAGAGAGCTTG	0.624																																																0																																										SO:0001589	frameshift_variant	84955			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.79_80delCT	8.37:g.110346166_110346167delAG	ENSP00000239690:p.Leu27fs			Frame_Shift_Del	DEL	ENST00000239690.4	37	CCDS6312.1																																																																																				0.624	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		-	110346161	AG	-	110346160	7	5	635	1	0	1	0	1	0	0	0	0	10724	72	3	0	1746	0	NUDCD1	8	110346160	Frame_Shift_Del	DEL	AG	TCGA-EU-5906-01A-11D-1669-08		110346160	36017862	31	34562											
WISP1	8840	hgsc.bcm.edu;ucsc.edu	37	8	134233012	134233013	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr8:134233012_134233013delTG	ENST00000250160.6	+	3	644_645	c.538_539delTG	c.(538-540)tgtfs	p.C180fs	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	180	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGGCCACTGCTGTGAGCAGTGG	0.703																																																0																																										SO:0001589	frameshift_variant	8840			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.538_539delTG	8.37:g.134233014_134233015delTG	ENSP00000250160:p.Cys180fs		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Frame_Shift_Del	DEL	ENST00000250160.6	37	CCDS6371.1																																																																																				0.703	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		-	134233013	TG	-	134233012	7	5	635	1	0	1	0	1	0	0	0	0	17377	1580	55	0	548	0	WISP1	8	134233012	Frame_Shift_Del	DEL	TG	TCGA-EU-5906-01A-11D-1669-08	23886852	134233012	12131010	32	34563											
UBQLN1	29979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86279973	86279973	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr9:86279973C>T	ENST00000376395.4	-	9	1943	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	UBQLN1_ENST00000257468.7_Missense_Mutation_p.A446T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	474					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.A474T(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GCTTCCGTTGCTAATGTCTGT	0.423																																					Melanoma(186;1284 2073 12755 14558 18426)											1	Substitution - Missense(1)	kidney(1)											105	94	98					9																	86279973		2203	4300	6503	SO:0001583	missense	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1420G>A	9.37:g.86279973C>T	ENSP00000365576:p.Ala474Thr		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903461	0.52333	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.54675	1.06;0.56	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	M	0.85041	2.73	0.46298	D	0.998979	P;D	0.71674	0.876;0.998	P;D	0.81914	0.596;0.995	T	0.70669	-0.4808	10	0.19147	T	0.46	.	20.0919	0.97823	0.0:1.0:0.0:0.0	.	446;474	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	T	474;446	ENSP00000365576:A474T;ENSP00000257468:A446T	ENSP00000257468:A446T	A	-	1	0	UBQLN1	85469793	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	5.812000	0.69194	2.810000	0.96702	0.650000	0.86243	GCA		0.423	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		T	86279973	C	T	86279973	3	4	635	1	0	0	0	0	1	0	0	0	16901	797	28	2	361	2	UBQLN1	9	86279973	Missense_Mutation	SNP	C	TCGA-EU-5906-01A-11D-1669-08		86279973	54933458	33	34564											
NOL8	55035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95062258	95062258	+	Silent	SNP	G	G	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr9:95062258G>C	ENST00000535387.1	-	12	3101	c.3102C>G	c.(3100-3102)gtC>gtG	p.V1034V	NOL8_ENST00000358855.4_Silent_p.V1004V|NOL8_ENST00000542053.1_Silent_p.V1004V|NOL8_ENST00000545558.1_Silent_p.V1072V|NOL8_ENST00000442668.2_Silent_p.V1072V					nucleolar protein 8									p.V1074V(1)|p.V1072V(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTCCTGCCAGACAATCTTTC	0.408																																																2	Substitution - coding silent(2)	kidney(2)											242	229	233					9																	95062258		1859	4113	5972	SO:0001819	synonymous_variant	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.3102C>G	9.37:g.95062258G>C				Silent	SNP	ENST00000535387.1	37	CCDS47993.1																																																																																				0.408	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		C	95062258	G	C	95062258	2	2	635	1	0	0	0	0	0	0	0	1	10529	929	33	4		4	NOL8	9	95062258	Silent	SNP	G	TCGA-EU-5906-01A-11D-1669-08	8782285	95062258	46151173	34	34565											
BAAT	570	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104130484	104130484	+	Missense_Mutation	SNP	T	T	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr9:104130484T>A	ENST00000395051.3	-	2	657	c.587A>T	c.(586-588)tAt>tTt	p.Y196F	BAAT_ENST00000259407.2_Missense_Mutation_p.Y196F			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	196					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)	p.Y196F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAGGTCTTCATAGTTATGGTA	0.473																																																1	Substitution - Missense(1)	kidney(1)											72	76	75					9																	104130484		2203	4300	6503	SO:0001583	missense	570			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.587A>T	9.37:g.104130484T>A	ENSP00000378491:p.Tyr196Phe		Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	T	5.771	0.326630	0.10900	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.40756	1.02;1.02	4.47	3.31	0.37934	.	0.238726	0.29087	N	0.013182	T	0.28466	0.0704	L	0.42744	1.35	0.38744	D	0.953966	P	0.34934	0.476	B	0.31547	0.132	T	0.08086	-1.0739	10	0.14656	T	0.56	-18.0123	8.1685	0.31241	0.1965:0.0:0.0:0.8035	.	196	Q14032	BAAT_HUMAN	F	196	ENSP00000259407:Y196F;ENSP00000378491:Y196F	ENSP00000259407:Y196F	Y	-	2	0	BAAT	103170305	0.991000	0.36638	0.969000	0.41365	0.053000	0.15095	1.011000	0.29911	0.719000	0.32188	0.459000	0.35465	TAT		0.473	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			A	104130484	T	A	104130484	3	1	635	1	0	0	0	0	1	0	0	0	1280	1406	49	5	677	5	BAAT	9	104130484	Missense_Mutation	SNP	T	TCGA-EU-5906-01A-11D-1669-08	9068226	104130484	37082947	35	34566											
SCAI	286205	broad.mit.edu;hgsc.bcm.edu	37	9	127789180	127789180	+	Silent	SNP	T	T	G	rs375130234		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr9:127789180T>G	ENST00000336505.6	-	6	481	c.423A>C	c.(421-423)acA>acC	p.T141T	SCAI_ENST00000373549.4_Silent_p.T164T	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	141	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.|Required for interaction with MKL1. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.T164T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGTTTCCGATGTGCGTAAGC	0.358																																																1	Substitution - coding silent(1)	kidney(1)											93	86	88					9																	127789180		1825	4074	5899	SO:0001819	synonymous_variant	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.423A>C	9.37:g.127789180T>G			Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Silent	SNP	ENST00000336505.6	37	CCDS48017.1																																																																																				0.358	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		G	127789180	T	G	127789180	2	3	635	1	0	0	0	0	0	0	0	1	13875	1451	51	5		5	SCAI	9	127789180	Silent	SNP	T	TCGA-EU-5906-01A-11D-1669-08	23658696	127789180	13424251	36	34567											
UBE2D1	7321	broad.mit.edu;hgsc.bcm.edu	37	10	60124536	60124536	+	Silent	SNP	T	T	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr10:60124536T>A	ENST00000373910.4	+	5	431	c.204T>A	c.(202-204)gcT>gcA	p.A68A		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	68					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.A68A(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TTTAGATTGCTTTCACAACAA	0.323																																																1	Substitution - coding silent(1)	kidney(1)											99	93	95					10																	60124536		2203	4300	6503	SO:0001819	synonymous_variant	7321			BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"Ubiquitin-conjugating enzymes E2"	12474	protein-coding gene	gene with protein product		602961	"stimulator of Fe transport", "ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.204T>A	10.37:g.60124536T>A			A6NLF6|A8K786	Silent	SNP	ENST00000373910.4	37	CCDS7252.1																																																																																				0.323	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	NM_003338		A	60124536	T	A	60124536	2	1	635	1	0	0	0	0	0	0	0	1	16853	1596	56	5		5	UBE2D1	10	60124536	Silent	SNP	T	TCGA-EU-5906-01A-11D-1669-08		60124536	75410211	37	34568											
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61835232	61835232	+	Missense_Mutation	SNP	A	A	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr10:61835232A>G	ENST00000280772.2	-	37	5598	c.5407T>C	c.(5407-5409)Tcc>Ccc	p.S1803P	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1803	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S1803P(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACCCAAGGGATGTATAGAGT	0.438																																																1	Substitution - Missense(1)	kidney(1)											126	134	131					10																	61835232		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5407T>C	10.37:g.61835232A>G	ENSP00000280772:p.Ser1803Pro		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480818	0.44044	.	.	ENSG00000151150	ENST00000280772	T	0.66995	-0.24	5.54	5.54	0.83059	.	0.000000	0.41823	D	0.000813	T	0.63248	0.2495	L	0.58101	1.795	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.62412	-0.6860	10	0.62326	D	0.03	.	12.4968	0.55933	0.8513:0.1487:0.0:0.0	.	1803	Q12955	ANK3_HUMAN	P	1803	ENSP00000280772:S1803P	ENSP00000280772:S1803P	S	-	1	0	ANK3	61505238	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.866000	0.63005	2.135000	0.66039	0.378000	0.23410	TCC		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		G	61835232	A	G	61835232	3	3	635	1	0	0	0	0	1	0	0	0	622	333	12	3	8067	3	ANK3	10	61835232	Missense_Mutation	SNP	A	TCGA-EU-5906-01A-11D-1669-08	1710696	61835232	73699515	38	34569											
CYP2E1	1571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	135347393	135347393	+	Missense_Mutation	SNP	A	A	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr10:135347393A>C	ENST00000463117.2	+	8	1231	c.959A>C	c.(958-960)gAg>gCg	p.E320A	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.E320A			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	320					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.E320A(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AAATACCCTGAGATTGAAGGT	0.542									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							1	Substitution - Missense(1)	kidney(1)											115	100	106					10																	135347393		2203	4300	6503	SO:0001583	missense	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.959A>C	10.37:g.135347393A>C	ENSP00000440689:p.Glu320Ala		Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699132	0.68501	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;D	0.81739	4.74;4.74;2.37;-1.53	4.12	4.12	0.48240	.	0.515339	0.23466	N	0.047861	D	0.83788	0.5330	M	0.81112	2.525	0.30241	N	0.795043	P;P	0.43094	0.737;0.799	B;P	0.46825	0.368;0.528	D	0.84219	0.0460	10	0.87932	D	0	.	11.7939	0.52088	1.0:0.0:0.0:0.0	.	216;320	Q59EW1;P05181	.;CP2E1_HUMAN	A	320;320;233;183	ENSP00000440689:E320A;ENSP00000252945:E320A;ENSP00000412754:E233A;ENSP00000397299:E183A	ENSP00000252945:E320A	E	+	2	0	CYP2E1	135197383	0.998000	0.40836	0.718000	0.30602	0.845000	0.48019	8.220000	0.89772	2.103000	0.63969	0.486000	0.48141	GAG		0.542	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		C	135347393	A	C	135347393	3	2	635	1	0	0	0	0	1	0	0	0	4172	304	11	5	981	5	CYP2E1	10	135347393	Missense_Mutation	SNP	A	TCGA-EU-5906-01A-11D-1669-08	73512161	135347393	187354	39	34570											
NUP98	4928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	3797242	3797242	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr11:3797242G>A	ENST00000324932.7	-	5	785	c.365C>T	c.(364-366)aCc>aTc	p.T122I	NUP98_ENST00000397007.4_Missense_Mutation_p.T122I|NUP98_ENST00000397004.4_Missense_Mutation_p.T122I|NUP98_ENST00000355260.3_Missense_Mutation_p.T122I|NUP98_ENST00000359171.4_Missense_Mutation_p.T122I	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	122	FG repeats 1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.T122I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GCTAGTACTGGTTCCAAAATC	0.398			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	1	Substitution - Missense(1)	kidney(1)											115	126	122					11																	3797242		2201	4298	6499	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.365C>T	11.37:g.3797242G>A	ENSP00000316032:p.Thr122Ile		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761659	0.89932	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007;ENST00000532475	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	M	0.84511	2.7	0.54753	D	0.999985	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.991;0.999;0.999	D	0.85623	0.1265	9	0.56958	D	0.05	.	17.8531	0.88754	0.0:0.0:1.0:0.0	.	122;122;122;122;122	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	I	122;122;122;122;122;85	.	ENSP00000316032:T122I	T	-	2	0	NUP98	3753818	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.002000	0.76304	2.573000	0.86826	0.655000	0.94253	ACC		0.398	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		A	3797242	G	A	3797242	3	1	635	1	0	0	0	0	1	0	0	0	10775	1261	44	2	5225	2	NUP98	11	3797242	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08		3797242	131209274	40	34571											
P2RX3	5024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57117325	57117325	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr11:57117325G>A	ENST00000263314.2	+	7	692	c.658G>A	c.(658-660)Gac>Aac	p.D220N		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	220					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.D220N(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCGGGTAGGGGACGTGGTCAA	0.612											OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	kidney(1)											75	62	67					11																	57117325		2201	4296	6497	SO:0001583	missense	5024			Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.658G>A	11.37:g.57117325G>A	ENSP00000263314:p.Asp220Asn	1020	Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338255	0.95758	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.05139	3.49	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00111	-1.2045	10	0.36615	T	0.2	-27.1745	16.9372	0.86206	0.0:0.0:1.0:0.0	.	220	P56373	P2RX3_HUMAN	N	220	ENSP00000263314:D220N	ENSP00000263314:D220N	D	+	1	0	P2RX3	56873901	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	6.236000	0.72339	2.729000	0.93468	0.650000	0.86243	GAC		0.612	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		A	57117325	G	A	57117325	3	1	635	1	0	0	0	0	1	0	0	0	11343	1174	41	2	684	2	P2RX3	11	57117325	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	53320083	57117325	77889191	41	34572											
ALDH3B1	221	broad.mit.edu;hgsc.bcm.edu	37	11	67789230	67789230	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr11:67789230C>G	ENST00000539229.1	+	8	952	c.836C>G	c.(835-837)cCa>cGa	p.P279R	ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.P243R|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.P279R	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	280					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CAGAGCTCCCCAAACCTGGGC	0.637											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													93	105	101					11																	67789230		2200	4294	6494	SO:0001583	missense	221			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"Aldehyde dehydrogenases"	410	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 7", "aldehyde dehydrogenase 3B1"	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.836C>G	11.37:g.67789230C>G	ENSP00000474034:p.Pro279Arg	1102	A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37																																																																																					0.637	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		G	67789230	C	G	67789230	3	3	635	1	0	0	0	0	1	0	0	0	499	594	21	4	860	4	ALDH3B1	11	67789230	Missense_Mutation	SNP	C	TCGA-EU-5906-01A-11D-1669-08	10671905	67789230	67217286	42	34573											
PRB3	5544	broad.mit.edu	37	12	11420500	11420500	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr12:11420500G>T	ENST00000279573.7	-	3	818	c.683C>A	c.(682-684)cCa>cAa	p.P228Q	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000538488.1_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	228	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTGTGGGGGTGGTCCTTCTGG	0.627																																																0																																										SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.683C>A	12.37:g.11420500G>T	ENSP00000279573:p.Pro228Gln		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37																																																																																					0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		T	11420500	G	T	11420500	3	4	635	1	0	0	0	0	1	0	0	0	12449	1348	47	4	254	4	PRB3	12	11420500	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08		11420500	122431395	43	34574											
TUBA1A	7846	broad.mit.edu	37	12	49579013	49579013	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr12:49579013C>T	ENST00000295766.5	-	4	1615	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TUBA1A_ENST00000301071.7_Missense_Mutation_p.S379N|TUBA1A_ENST00000550767.1_Missense_Mutation_p.S344N	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	379					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S379N(1)		stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TGTGGTGTTGCTCAGCATGCA	0.582																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)											1	Substitution - Missense(1)	kidney(1)											69	58	62					12																	49579013		2203	4296	6499	SO:0001583	missense	7846			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1136G>A	12.37:g.49579013C>T	ENSP00000439020:p.Ser379Asn		A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095811	0.36952	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.82803	-1.65;-1.65;-1.65	5.47	5.47	0.80525	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90397	0.6994	H	0.96269	3.795	0.80722	D	1	B	0.12630	0.006	B	0.31016	0.123	D	0.89441	0.3723	10	0.87932	D	0	.	18.1914	0.89808	0.0:1.0:0.0:0.0	.	379	Q71U36	TBA1A_HUMAN	N	379;110;226;379;344	ENSP00000301071:S379N;ENSP00000439020:S379N;ENSP00000446637:S344N	ENSP00000439020:S379N	S	-	2	0	TUBA1A	47865280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.577000	0.86979	0.650000	0.86243	AGC		0.582	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		T	49579013	C	T	49579013	3	4	635	1	0	0	0	0	1	0	0	0	16748	797	28	2	223	2	TUBA1A	12	49579013	Missense_Mutation	SNP	C	TCGA-EU-5906-01A-11D-1669-08	38158513	49579013	84272882	44	34575											
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53685545	53685545	+	Silent	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr12:53685545C>G	ENST00000257934.4	+	26	5683	c.5592C>G	c.(5590-5592)acC>acG	p.T1864T	ESPL1_ENST00000552462.1_Silent_p.T1864T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1864					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.T1864T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGTGCCCAACCCAGCCAGAGC	0.602																																					Colon(53;1069 1201 2587 5382)											1	Substitution - coding silent(1)	kidney(1)											134	130	131					12																	53685545		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5592C>G	12.37:g.53685545C>G				Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																				0.602	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		G	53685545	C	G	53685545	2	3	635	1	0	0	0	0	0	0	0	1	5255	610	22	4		4	ESPL1	12	53685545	Silent	SNP	C	TCGA-EU-5906-01A-11D-1669-08	4106532	53685545	80166350	45	34576											
GPR109A	338442	broad.mit.edu;hgsc.bcm.edu	37	12	123187634	123187635	+	Nonsense_Mutation	DNP	AG	AG	TA			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr12:123187634_123187635AG>TA	ENST00000328880.5	-	1	255_256	c.196_197CT>TA	c.(196-198)CTg>TAg	p.L66*	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	66					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)	p.L66Q(1)|p.L66*(1)|p.L66L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CAGGTTGAACAGGAAAATCCGG	0.53																																																3	Substitution - Missense(1)|Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001587	stop_gained	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.196_197delinsTA	12.37:g.123187634_123187635delinsTA	ENSP00000375066:p.Leu66*		A0PJL5|A7LGG3	Missense_Mutation|Silent	SNP	ENST00000328880.5	37	CCDS9235.1																																																																																				0.53	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		TA	123187635	AG	TA	123187634	4	4	635	1	0	0	0	0	0	1	0	0	6627	188	7	5	898	5	GPR109A	12	123187634	Nonsense_Mutation	DNP	AG	TCGA-EU-5906-01A-11D-1669-08	69502089	123187634	10664261	46	34577											
GOLGA3	2802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133354283	133354283	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr12:133354283G>T	ENST00000450791.2	-	18	3874	c.3691C>A	c.(3691-3693)Cag>Aag	p.Q1231K	GOLGA3_ENST00000204726.3_Missense_Mutation_p.Q1231K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q1231K			Q08378	GOGA3_HUMAN	golgin A3	1231	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.Q1231K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCAGCTTCTGCACCAGGTGT	0.632																																																1	Substitution - Missense(1)	kidney(1)											68	60	62					12																	133354283		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3691C>A	12.37:g.133354283G>T	ENSP00000410378:p.Gln1231Lys		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069669	0.55539	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.78364	-1.17;-1.17;1.97	5.59	5.59	0.84812	.	0.216583	0.48286	D	0.000194	T	0.70228	0.3200	L	0.47716	1.5	0.80722	D	1	P;B	0.37207	0.587;0.052	B;B	0.32465	0.146;0.011	T	0.68157	-0.5483	10	0.10377	T	0.69	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1231;1231	Q08378-2;Q08378	.;GOGA3_HUMAN	K	1231	ENSP00000204726:Q1231K;ENSP00000410378:Q1231K;ENSP00000409303:Q1231K	ENSP00000204726:Q1231K	Q	-	1	0	GOLGA3	131864356	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.660000	0.68018	2.631000	0.89168	0.561000	0.74099	CAG		0.632	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		T	133354283	G	T	133354283	3	4	635	1	0	0	0	0	1	0	0	0	6556	1328	46	4	829	4	GOLGA3	12	133354283	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	10166649	133354283	497612	47	34578											
NFATC4	4776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24839730	24839730	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr14:24839730G>A	ENST00000250373.4	+	2	1267	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	NFATC4_ENST00000554344.1_Missense_Mutation_p.D306N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D306N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D408N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D439N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D389N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D364N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D376N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D389N|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555590.1_Missense_Mutation_p.D389N|NFATC4_ENST00000413692.2_Missense_Mutation_p.D439N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D306N|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000553469.1_Missense_Mutation_p.D408N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D364N|NFATC4_ENST00000557451.1_Missense_Mutation_p.D306N|NFATC4_ENST00000556279.1_Missense_Mutation_p.D408N|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000422617.3_Missense_Mutation_p.D364N|NFATC4_ENST00000554050.1_Missense_Mutation_p.D376N	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	376					cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.D439N(1)|p.D376N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GGCTGGCATGGACTACCTGGC	0.637																																																2	Substitution - Missense(2)	kidney(2)											49	44	46					14																	24839730		2203	4300	6503	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1126G>A	14.37:g.24839730G>A	ENSP00000250373:p.Asp376Asn		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176454	0.78564	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.10382	3.21;3.23;3.21;3.24;3.22;3.21;3.2;3.23;3.24;3.21;3.22;2.89;2.89;2.92;2.91;2.9;2.89;2.88	4.58	4.58	0.56647	.	0.065273	0.64402	D	0.000014	T	0.21307	0.0513	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.69078	0.969;0.969;0.97;0.988;0.97;0.97;0.969;0.988;0.988;0.969;0.97;0.997;0.97;0.949	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.61201	0.785;0.785;0.839;0.844;0.839;0.885;0.785;0.844;0.844;0.785;0.885;0.879;0.839;0.694	T	0.00386	-1.1772	10	0.44086	T	0.13	-11.3754	15.2442	0.73493	0.0:0.0:1.0:0.0	.	364;364;408;408;389;389;389;439;439;364;408;353;439;376	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	N	439;439;389;389;389;408;408;408;376;376;376;306;306;306;364;306;364;364	ENSP00000388910:D439N;ENSP00000452039:D439N;ENSP00000451224:D389N;ENSP00000450644:D389N;ENSP00000388668:D389N;ENSP00000439350:D408N;ENSP00000452270:D408N;ENSP00000451502:D408N;ENSP00000451151:D376N;ENSP00000250373:D376N;ENSP00000450590:D376N;ENSP00000452349:D306N;ENSP00000450469:D306N;ENSP00000450733:D306N;ENSP00000451454:D364N;ENSP00000451284:D306N;ENSP00000396788:D364N;ENSP00000450686:D364N	ENSP00000250373:D376N	D	+	1	0	NFATC4	23909570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.877000	0.48506	2.531000	0.85337	0.591000	0.81541	GAC		0.637	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		A	24839730	G	A	24839730	3	1	635	1	0	0	0	0	1	0	0	0	10367	1174	41	2	1325	2	NFATC4	14	24839730	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08		24839730	82509810	48	34579											
FANCM	57697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45639810	45639810	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr14:45639810T>C	ENST00000267430.5	+	12	2106	c.2021T>C	c.(2020-2022)cTa>cCa	p.L674P	FANCM_ENST00000542564.2_Missense_Mutation_p.L648P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	674					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.L674P(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAAAGTAGCCTAAAGAAAGAT	0.303								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							1	Substitution - Missense(1)	kidney(1)											44	48	46					14																	45639810		2201	4297	6498	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2021T>C	14.37:g.45639810T>C	ENSP00000267430:p.Leu674Pro		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	T	2.273	-0.366436	0.05069	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18657	2.78;2.78;2.2	5.35	1.44	0.22558	.	2.644850	0.00763	N	0.001158	T	0.18635	0.0447	L	0.43152	1.355	0.42913	D	0.994264	P;B	0.36086	0.536;0.403	B;B	0.28232	0.087;0.07	T	0.07927	-1.0747	10	0.33940	T	0.23	.	8.0501	0.30572	0.0:0.5768:0.0:0.4232	.	648;674	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	P	674;648;190	ENSP00000267430:L674P;ENSP00000442493:L648P;ENSP00000452033:L190P	ENSP00000267430:L674P	L	+	2	0	FANCM	44709560	0.002000	0.14202	0.341000	0.25589	0.151000	0.21798	-0.041000	0.12084	0.219000	0.20840	-0.366000	0.07423	CTA		0.303	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		C	45639810	T	C	45639810	3	2	635	1	0	0	0	0	1	0	0	0	5673	1522	53	3	2067	3	FANCM	14	45639810	Missense_Mutation	SNP	T	TCGA-EU-5906-01A-11D-1669-08	20800080	45639810	61709730	49	34580											
ZFYVE1	53349	broad.mit.edu	37	14	73465019	73465019	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr14:73465019G>T	ENST00000556143.1	-	3	1208	c.488C>A	c.(487-489)aCa>aAa	p.T163K	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.T163K|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.T163K	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	163					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.T163K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTCTTCATTTGTTACCTGCAA	0.353																																																1	Substitution - Missense(1)	kidney(1)											25	25	25					14																	73465019		2148	4171	6319	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.488C>A	14.37:g.73465019G>T	ENSP00000450742:p.Thr163Lys		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	1.558	-0.537361	0.04082	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.61274	0.12;0.12;0.12	5.42	3.31	0.37934	.	0.223482	0.45606	D	0.000354	T	0.13628	0.0330	N	0.00246	-1.78	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46331	-0.9199	10	0.02654	T	1	-6.3589	2.617	0.04907	0.095:0.1517:0.3898:0.3636	.	163;163	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	K	163	ENSP00000452442:T163K;ENSP00000326921:T163K;ENSP00000450742:T163K	ENSP00000326921:T163K	T	-	2	0	ZFYVE1	72534772	0.951000	0.32395	0.993000	0.49108	0.907000	0.53573	1.675000	0.37555	2.545000	0.85829	0.591000	0.81541	ACA		0.353	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		T	73465019	G	T	73465019	3	4	635	1	0	0	0	0	1	0	0	0	17668	1377	48	4	1885	4	ZFYVE1	14	73465019	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	27825209	73465019	33884521	50	34581											
PSMC1	5700	broad.mit.edu;hgsc.bcm.edu	37	14	90730154	90730154	+	Missense_Mutation	SNP	T	T	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr14:90730154T>A	ENST00000261303.8	+	5	531	c.428T>A	c.(427-429)cTg>cAg	p.L143Q	PSMC1_ENST00000543772.2_Missense_Mutation_p.L70Q	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	143					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)|ATP catabolic process (GO:0006200)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)	p.L143Q(1)		endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		GACAAGGATCTGCTGGAACCT	0.473																																																1	Substitution - Missense(1)	kidney(1)											46	47	47					14																	90730154		2203	4299	6502	SO:0001583	missense	5700			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.428T>A	14.37:g.90730154T>A	ENSP00000261303:p.Leu143Gln		B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	37	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.959601	0.53400	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.94376	-3.41;-3.39	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	N	0.12831	0.26	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.81747	-0.0791	10	0.23891	T	0.37	-6.5197	15.8844	0.79232	0.0:0.0:0.0:1.0	.	143	P62191	PRS4_HUMAN	Q	143;70	ENSP00000261303:L143Q;ENSP00000445147:L70Q	ENSP00000261303:L143Q	L	+	2	0	PSMC1	89799907	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.851000	0.86920	2.218000	0.71995	0.533000	0.62120	CTG		0.473	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802		A	90730154	T	A	90730154	3	1	635	1	0	0	0	0	1	0	0	0	12690	1580	55	5	446	5	PSMC1	14	90730154	Missense_Mutation	SNP	T	TCGA-EU-5906-01A-11D-1669-08	17265135	90730154	16619386	51	34582											
DDX24	57062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94528593	94528593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr14:94528593G>A	ENST00000330836.5	-	3	1224	c.1093C>T	c.(1093-1095)Cag>Tag	p.Q365*	DDX24_ENST00000555054.1_Nonsense_Mutation_p.Q322*|DDX24_ENST00000544005.1_Nonsense_Mutation_p.Q115*	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	365	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.Q365*(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTCCAGTCTGCTCTTTATCA	0.478																																																1	Substitution - Nonsense(1)	kidney(1)											161	146	151					14																	94528593		2203	4300	6503	SO:0001587	stop_gained	57062			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1093C>T	14.37:g.94528593G>A	ENSP00000328690:p.Gln365*		E7EMJ4|Q4V9L5	Nonsense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480650	0.63849	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000555054;ENST00000542247	.	.	.	5.49	3.54	0.40534	.	0.872025	0.10487	N	0.668805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-21.2915	11.0127	0.47671	0.0:0.3444:0.5423:0.1132	.	.	.	.	X	365;115;310;322;322	.	ENSP00000328690:Q365X	Q	-	1	0	DDX24	93598346	0.006000	0.16342	0.019000	0.16419	0.026000	0.11368	0.343000	0.19944	1.433000	0.47394	0.655000	0.94253	CAG		0.478	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		A	94528593	G	A	94528593	4	1	635	1	0	0	0	0	0	1	0	0	4353	1328	46	2	1514	2	DDX24	14	94528593	Nonsense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	3798439	94528593	12820947	52	34583											
LYSMD4	145748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	100269896	100269896	+	Missense_Mutation	SNP	T	T	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr15:100269896T>G	ENST00000409796.1	-	3	385	c.323A>C	c.(322-324)cAa>cCa	p.Q108P	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000344791.2_Missense_Mutation_p.Q109P|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000332728.4_Missense_Mutation_p.Q108P	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	108						integral component of membrane (GO:0016021)		p.Q109P(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			ATATAAGTCTTGTTCTCTGAT	0.403																																																1	Substitution - Missense(1)	kidney(1)											58	57	57					15																	100269896		2203	4300	6503	SO:0001583	missense	145748			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.323A>C	15.37:g.100269896T>G	ENSP00000386283:p.Gln108Pro		A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37		.	.	.	.	.	.	.	.	.	.	T	21.5	4.153466	0.78114	.	.	ENSG00000183060	ENST00000409796;ENST00000344791;ENST00000332728;ENST00000450512	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.73	4.73	0.59995	Peptidoglycan-binding Lysin subgroup (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	T	0.69803	-0.5046	10	0.56958	D	0.05	-0.5176	14.5161	0.67821	0.0:0.0:0.0:1.0	.	109;108	Q5XG99-2;Q5XG99	.;LYSM4_HUMAN	P	108;109;108;104	ENSP00000386283:Q108P;ENSP00000342840:Q109P;ENSP00000333008:Q108P;ENSP00000400054:Q104P	ENSP00000333008:Q108P	Q	-	2	0	LYSMD4	98087419	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.638000	0.83328	1.884000	0.54569	0.533000	0.62120	CAA		0.403	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		G	100269896	T	G	100269896	3	3	635	1	0	0	0	0	1	0	0	0	9129	1812	63	5	571	5	LYSMD4	15	100269896	Missense_Mutation	SNP	T	TCGA-EU-5906-01A-11D-1669-08		100269896	2261496	53	34584											
TOP3A	7156	broad.mit.edu	37	17	18196163	18196163	+	Silent	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr17:18196163G>A	ENST00000321105.5	-	11	1291	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y	TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Silent_p.Y264Y	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	359					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.Y359Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GATAGCTGATGTACCTAAAAC	0.458																																																1	Substitution - coding silent(1)	kidney(1)											89	84	86					17																	18196163		2203	4300	6503	SO:0001819	synonymous_variant	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1077C>T	17.37:g.18196163G>A			A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	ENST00000321105.5	37	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	7.388	0.630198	0.14257	.	.	ENSG00000177302	ENST00000412083	.	.	.	5.42	1.75	0.24633	.	.	.	.	.	T	0.59729	0.2215	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55848	-0.8076	4	.	.	.	-21.4864	11.0381	0.47814	0.3491:0.0:0.6509:0.0	.	.	.	.	Y	339	.	.	H	-	1	0	TOP3A	18136888	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	0.256000	0.18351	0.612000	0.30071	0.563000	0.77884	CAT		0.458	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			A	18196163	G	A	18196163	2	1	635	1	0	0	0	0	0	0	0	1	16372	1372	48	2		2	TOP3A	17	18196163	Silent	SNP	G	TCGA-EU-5906-01A-11D-1669-08		18196163	62999047	54	34585											
MYO18A	399687	broad.mit.edu;hgsc.bcm.edu	37	17	27493028	27493028	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr17:27493028G>C	ENST00000527372.1	-	2	1111	c.931C>G	c.(931-933)Cca>Gca	p.P311A	MYO18A_ENST00000354329.4_Missense_Mutation_p.P311A|MYO18A_ENST00000533112.1_Missense_Mutation_p.P311A|MYO18A_ENST00000531253.1_Missense_Mutation_p.P311A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	311	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.P311A(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGAGCTCTGGAATGGGCTGC	0.617																																					Esophageal Squamous(182;472 2015 7001 15270 22562)											2	Substitution - Missense(2)	kidney(2)											58	66	63					17																	27493028		2198	4294	6492	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.931C>G	17.37:g.27493028G>C	ENSP00000437073:p.Pro311Ala		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	0.610	-0.825273	0.02755	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.87491	-2.15;-2.26;-2.15;-2.15	5.31	5.31	0.75309	PDZ/DHR/GLGF (3);	0.069122	0.64402	D	0.000006	T	0.80660	0.4665	L	0.58669	1.825	0.42665	D	0.993492	B;B;B	0.30406	0.228;0.228;0.278	B;B;B	0.27796	0.083;0.083;0.057	T	0.72795	-0.4185	10	0.06236	T	0.91	.	9.9125	0.41415	0.0733:0.0:0.7862:0.1405	.	311;311;311	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	A	311	ENSP00000346291:P311A;ENSP00000435932:P311A;ENSP00000434228:P311A;ENSP00000437073:P311A	ENSP00000346291:P311A	P	-	1	0	MYO18A	24517154	1.000000	0.71417	0.998000	0.56505	0.568000	0.35870	4.263000	0.58853	2.755000	0.94549	0.563000	0.77884	CCA		0.617	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		C	27493028	G	C	27493028	3	2	635	1	0	0	0	0	1	0	0	0	10067	1174	41	4	5397	4	MYO18A	17	27493028	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	9296865	27493028	53702182	55	34586											
ZGLP1	100125288	broad.mit.edu	37	19	10419249	10419249	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr19:10419249C>T	ENST00000403903.3	-	1	1307	c.109G>A	c.(109-111)Gac>Aac	p.D37N	FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000541276.1_Intron|CTD-2369P2.10_ENST00000452032.2_Intron|ZGLP1_ENST00000403352.1_Intron	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	37					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D37N(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GCAGTGGGGTCACGTTTTCTT	0.622																																																2	Substitution - Missense(2)	kidney(2)											42	49	47					19																	10419249		1988	4148	6136	SO:0001583	missense	100125288			AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"GATA zinc finger domain containing"	37245	protein-coding gene	gene with protein product	"GATA like protein 1", "GATA zinc finger domain containing 3"	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.109G>A	19.37:g.10419249C>T	ENSP00000384434:p.Asp37Asn			Missense_Mutation	SNP	ENST00000403903.3	37	CCDS45959.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315893	0.40996	.	.	ENSG00000220201	ENST00000403903	D	0.97976	-4.64	3.55	1.39	0.22231	.	.	.	.	.	D	0.91670	0.7367	N	0.14661	0.345	0.09310	N	1	B	0.21821	0.061	B	0.15484	0.013	D	0.84430	0.0576	9	0.22706	T	0.39	1.3362	5.2278	0.15404	0.0:0.7292:0.0:0.2708	.	37	P0C6A0	ZGLP1_HUMAN	N	37	ENSP00000384434:D37N	ENSP00000384434:D37N	D	-	1	0	ZGLP1	10280249	0.305000	0.24481	0.064000	0.19789	0.854000	0.48673	0.042000	0.13949	0.816000	0.34421	0.462000	0.41574	GAC		0.622	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167		T	10419249	C	T	10419249	3	4	635	1	0	0	0	0	1	0	0	0	17678	826	29	2	722	2	ZGLP1	19	10419249	Missense_Mutation	SNP	C	TCGA-EU-5906-01A-11D-1669-08		10419249	48709734	56	34587											
PODNL1	79883	broad.mit.edu	37	19	14043756	14043756	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr19:14043756delA	ENST00000339560.5	-	8	1574	c.1301delT	c.(1300-1302)ctgfs	p.L434fs	PODNL1_ENST00000254320.3_Frame_Shift_Del_p.L352fs|PODNL1_ENST00000538517.2_Frame_Shift_Del_p.L343fs|PODNL1_ENST00000538371.2_Frame_Shift_Del_p.L432fs	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	434	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TTGCAGCTGCAGGGTGCGCAG	0.716																																																0													7	8	8					19																	14043756		2150	4225	6375	SO:0001589	frameshift_variant	79883			AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1301delT	19.37:g.14043756delA	ENSP00000345175:p.Leu434fs		B7Z564|Q9H5G9	Frame_Shift_Del	DEL	ENST00000339560.5	37	CCDS12300.1																																																																																				0.716	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		-	14043756	A	-	14043756	7	5	635	1	0	1	0	1	0	0	0	0	12181	188	7	0	241	0	PODNL1	19	14043756	Frame_Shift_Del	DEL	A	TCGA-EU-5906-01A-11D-1669-08	3624507	14043756	45085227	57	34588											
MAP1S	55201	broad.mit.edu;hgsc.bcm.edu	37	19	17837059	17837059	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr19:17837059T>C	ENST00000324096.4	+	5	1017	c.866T>C	c.(865-867)cTg>cCg	p.L289P	MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.L263P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	289	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.L289P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GATGCCGTGCTGGTGACCCAC	0.672																																																1	Substitution - Missense(1)	kidney(1)											25	21	22					19																	17837059		2203	4297	6500	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.866T>C	19.37:g.17837059T>C	ENSP00000325313:p.Leu289Pro		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.897846	0.52227	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.29655	1.56;1.56	4.26	4.26	0.50523	.	0.000000	0.38217	N	0.001773	T	0.55433	0.1920	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.61148	-0.7121	10	0.87932	D	0	-19.9764	11.312	0.49368	0.0:0.0:0.0:1.0	.	263;289;289	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	P	289;263	ENSP00000325313:L289P;ENSP00000439243:L263P	ENSP00000325313:L289P	L	+	2	0	MAP1S	17698059	1.000000	0.71417	0.947000	0.38551	0.063000	0.16089	7.853000	0.86934	1.554000	0.49487	0.379000	0.24179	CTG		0.672	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		C	17837059	T	C	17837059	3	2	635	1	0	0	0	0	1	0	0	0	9236	1580	55	3	884	3	MAP1S	19	17837059	Missense_Mutation	SNP	T	TCGA-EU-5906-01A-11D-1669-08	3793303	17837059	41291924	58	34589											
ZNF808	388558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53057358	53057358	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr19:53057358A>T	ENST00000359798.4	+	5	1369	c.1189A>T	c.(1189-1191)Aaa>Taa	p.K397*		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K397*(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAGTGGAGAGAAAACATACAA	0.373																																																1	Substitution - Nonsense(1)	kidney(1)											94	101	98					19																	53057358		2197	4293	6490	SO:0001587	stop_gained	388558			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1189A>T	19.37:g.53057358A>T	ENSP00000352846:p.Lys397*		Q68CN7	Nonsense_Mutation	SNP	ENST00000359798.4	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	25.1	4.607890	0.87258	.	.	ENSG00000198482	ENST00000359798	.	.	.	1.5	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.836	0.29369	1.0:0.0:0.0:0.0	.	.	.	.	X	397	.	ENSP00000352846:K397X	K	+	1	0	ZNF808	57749170	0.445000	0.25657	0.023000	0.16930	0.014000	0.08584	3.395000	0.52558	0.666000	0.31087	0.164000	0.16699	AAA		0.373	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		T	53057358	A	T	53057358	4	4	635	1	0	0	0	0	0	1	0	0	18178	247	9	5	1199	5	ZNF808	19	53057358	Nonsense_Mutation	SNP	A	TCGA-EU-5906-01A-11D-1669-08	35220299	53057358	6071625	59	34590											
NLRP5	126206	broad.mit.edu	37	19	56539568	56539568	+	Missense_Mutation	SNP	G	G	A	rs370513314		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr19:56539568G>A	ENST00000390649.3	+	7	1969	c.1969G>A	c.(1969-1971)Gtt>Att	p.V657I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	657					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.V657I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGGCTGTCCCGTTCCCCTGGG	0.597																																																2	Substitution - Missense(2)	kidney(1)|central_nervous_system(1)						G	ILE/VAL	0,3966		0,0,1983	62	65	64		1969	-0.3	0	19		64	1,8307		0,1,4153	no	missense	NLRP5	NM_153447.4	29	0,1,6136	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	657/1201	56539568	1,12273	1983	4154	6137	SO:0001583	missense	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1969G>A	19.37:g.56539568G>A	ENSP00000375063:p.Val657Ile		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170697	0.21621	0.0	1.2E-4	ENSG00000171487	ENST00000390649	D	0.88975	-2.45	3.26	-0.266	0.12942	.	0.497253	0.15090	N	0.281128	T	0.79907	0.4527	L	0.52905	1.665	0.09310	N	1	P	0.43607	0.812	B	0.36845	0.234	T	0.68228	-0.5464	10	0.22109	T	0.4	.	3.4644	0.07544	0.2522:0.2153:0.5325:0.0	.	657	P59047	NALP5_HUMAN	I	657	ENSP00000375063:V657I	ENSP00000375063:V657I	V	+	1	0	NLRP5	61231380	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.169000	0.16641	0.044000	0.15775	-0.258000	0.10820	GTT		0.597	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		A	56539568	G	A	56539568	3	1	635	1	0	0	0	0	1	0	0	0	10482	1145	40	1	1995	1	NLRP5	19	56539568	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08	3482210	56539568	2589415	60	34591											
PIGT	51604	broad.mit.edu	37	20	44044813	44044813	+	Missense_Mutation	SNP	C	C	T	rs551062552		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr20:44044813C>T	ENST00000279036.6	+	1	97	c.17C>T	c.(16-18)cCg>cTg	p.P6L	PIGT_ENST00000279035.9_Missense_Mutation_p.P6L|PIGT_ENST00000341555.5_Missense_Mutation_p.P6L|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000543458.2_Missense_Mutation_p.P6L|PIGT_ENST00000372689.5_Missense_Mutation_p.P6L|PIGT_ENST00000545755.1_5'UTR	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	6					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.P6L(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GCGGCTATGCCGCTTGCTCTG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14099	0.0		0.0	False		,,,				2504	0.001															2	Substitution - Missense(2)	kidney(2)											5	8	7					20																	44044813		2136	4206	6342	SO:0001583	missense	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.17C>T	20.37:g.44044813C>T	ENSP00000279036:p.Pro6Leu		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524481	0.27299	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000455050;ENST00000341555	T;T;T;T;T	0.45276	0.99;1.02;0.9;1.04;0.9	5.65	-3.66	0.04489	.	0.940554	0.08958	N	0.869149	T	0.24624	0.0597	N	0.08118	0	0.80722	D	1	B;B;P;B;B	0.38642	0.33;0.222;0.641;0.222;0.118	B;B;B;B;B	0.26693	0.072;0.033;0.072;0.033;0.016	T	0.36504	-0.9745	10	0.87932	D	0	-11.6378	23.96	0.99987	0.0:0.2652:0.7348:0.0	.	6;6;6;6;6	Q969N2-4;B7Z3N1;Q969N2-2;B7Z7C5;Q969N2	.;.;.;.;PIGT_HUMAN	L	6	ENSP00000441577:P6L;ENSP00000361774:P6L;ENSP00000279035:P6L;ENSP00000279036:P6L;ENSP00000343783:P6L	ENSP00000279035:P6L	P	+	2	0	PIGT	43478227	0.000000	0.05858	0.658000	0.29665	0.383000	0.30230	-2.274000	0.01163	-0.355000	0.08199	0.655000	0.94253	CCG		0.647	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		T	44044813	C	T	44044813	3	4	635	1	0	0	0	0	1	0	0	0	11901	652	23	1	19	1	PIGT	20	44044813	Missense_Mutation	SNP	C	TCGA-EU-5906-01A-11D-1669-08		44044813	18980707	61	34592											
NRIP1	8204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	16338673	16338673	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr21:16338673G>A	ENST00000400202.1	-	3	2553	c.1841C>T	c.(1840-1842)gCc>gTc	p.A614V	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.A614V|NRIP1_ENST00000400199.1_Missense_Mutation_p.A614V			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	614	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A614V(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTCATTTTGGGCTGGTTTCTC	0.433																																																1	Substitution - Missense(1)	kidney(1)											239	242	241					21																	16338673		2202	4299	6501	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1841C>T	21.37:g.16338673G>A	ENSP00000383063:p.Ala614Val		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.253012	0.00268	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.18810	2.19;2.19;2.19	6.02	-1.16	0.09678	.	1.038430	0.07682	N	0.937232	T	0.09992	0.0245	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	10	0.17832	T	0.49	0.9352	1.6925	0.02855	0.2507:0.2066:0.3644:0.1783	.	614	P48552	NRIP1_HUMAN	V	614	ENSP00000383060:A614V;ENSP00000383063:A614V;ENSP00000327213:A614V	ENSP00000327213:A614V	A	-	2	0	NRIP1	15260544	0.039000	0.19947	0.081000	0.20488	0.351000	0.29236	0.147000	0.16202	0.060000	0.16281	-0.127000	0.14921	GCC		0.433	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		A	16338673	G	A	16338673	3	1	635	1	0	0	0	0	1	0	0	0	10654	1203	42	2	1639	2	NRIP1	21	16338673	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08		16338673	31791222	62	34593											
PI4KA	5297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21161667	21161667	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr22:21161667G>A	ENST00000572273.1	-	10	1207	c.977C>T	c.(976-978)aCt>aTt	p.T326I	PI4KA_ENST00000255882.6_Missense_Mutation_p.T384I			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	326					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.T326I(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTAGTACAGAGTGTCACGCAG	0.537																																					GBM(136;1332 1831 3115 23601 50806)											2	Substitution - Missense(2)	kidney(2)											185	128	147					22																	21161667		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.977C>T	22.37:g.21161667G>A	ENSP00000458238:p.Thr326Ile		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	G	13.28	2.190537	0.38707	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.24	5.24	0.73138	.	0.048124	0.85682	D	0.000000	T	0.55721	0.1938	L	0.43152	1.355	0.80722	D	1	B;B	0.19331	0.035;0.001	B;B	0.15052	0.012;0.002	T	0.49799	-0.8901	9	0.20046	T	0.44	-12.5314	19.003	0.92841	0.0:0.0:1.0:0.0	.	384;326	D3DX33;P42356	.;PI4KA_HUMAN	I	326	.	ENSP00000255882:T326I	T	-	2	0	PI4KA	19491667	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.529000	0.73812	2.725000	0.93324	0.655000	0.94253	ACT		0.537	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		A	21161667	G	A	21161667	3	1	635	1	0	0	0	0	1	0	0	0	11875	1029	36	2	5341	2	PI4KA	22	21161667	Missense_Mutation	SNP	G	TCGA-EU-5906-01A-11D-1669-08		21161667	30142899	63	34594											
SF3A1	10291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30740940	30740940	+	Silent	SNP	T	T	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr22:30740940T>A	ENST00000215793.8	-	4	787	c.633A>T	c.(631-633)ctA>ctT	p.L211L	SF3A1_ENST00000439242.1_Silent_p.L146L	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	211					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L211L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						ACTGTTCCACTAGCTTCGTGA	0.552																																																1	Substitution - coding silent(1)	kidney(1)											142	136	138					22																	30740940		2203	4300	6503	SO:0001819	synonymous_variant	10291			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.633A>T	22.37:g.30740940T>A			E9PAW1	Silent	SNP	ENST00000215793.8	37	CCDS13875.1																																																																																				0.552	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		A	30740940	T	A	30740940	2	1	635	1	0	0	0	0	0	0	0	1	14152	1509	53	5		5	SF3A1	22	30740940	Silent	SNP	T	TCGA-EU-5906-01A-11D-1669-08	9579273	30740940	20563626	64	34595											
ADSL	158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40742592	40742592	+	Silent	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr22:40742592C>G	ENST00000216194.7	+	1	86	c.30C>G	c.(28-30)ccC>ccG	p.P10P	ADSL_ENST00000342312.6_Silent_p.P10P|ADSL_ENST00000454266.2_Silent_p.P10P	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	10					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.P10P(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ATGGTTCGCCCGACAGCTACC	0.642																																					Colon(4;65 130 1097 1516)											2	Substitution - coding silent(2)	kidney(2)											29	24	26					22																	40742592		2202	4299	6501	SO:0001819	synonymous_variant	158			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.30C>G	22.37:g.40742592C>G			B0QY76|O75495|Q5TI34	Silent	SNP	ENST00000216194.7	37	CCDS14001.1																																																																																				0.642	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		G	40742592	C	G	40742592	2	3	635	1	0	0	0	0	0	0	0	1	346	639	23	4		4	ADSL	22	40742592	Silent	SNP	C	TCGA-EU-5906-01A-11D-1669-08	10001652	40742592	10561974	65	34596											
NCAPH2	29781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50960640	50960640	+	Missense_Mutation	SNP	A	A	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr22:50960640A>C	ENST00000420993.2	+	14	1315	c.1193A>C	c.(1192-1194)aAg>aCg	p.K398T	NCAPH2_ENST00000395701.3_Missense_Mutation_p.K398T|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000299821.11_Missense_Mutation_p.K398T|CTA-384D8.36_ENST00000608319.1_RNA	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	398					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.K398T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		ACACACGTGAAGGAGCAGTTG	0.612																																																1	Substitution - Missense(1)	kidney(1)											74	78	77					22																	50960640		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1193A>C	22.37:g.50960640A>C	ENSP00000410088:p.Lys398Thr		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	A	14.30	2.494180	0.44352	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.93	-4.14	0.03892	.	1.019470	0.07804	N	0.957029	T	0.45915	0.1366	L	0.55481	1.735	0.24192	N	0.995542	P;P;P	0.36683	0.51;0.51;0.565	B;B;B	0.40825	0.23;0.23;0.341	T	0.49634	-0.8919	9	0.48119	T	0.1	-6.7668	12.8429	0.57813	0.8688:0.0:0.1312:0.0	.	398;376;398	Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;CNDH2_HUMAN	T	398	.	ENSP00000299821:K398T	K	+	2	0	NCAPH2	49307506	0.116000	0.22171	0.044000	0.18714	0.418000	0.31294	-0.157000	0.10085	-1.363000	0.02164	-0.326000	0.08463	AAG		0.612	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		C	50960640	A	C	50960640	3	2	635	1	0	0	0	0	1	0	0	0	10212	72	3	5	1286	5	NCAPH2	22	50960640	Missense_Mutation	SNP	A	TCGA-EU-5906-01A-11D-1669-08	10218048	50960640	343926	66	34597											
SPEN	23013	broad.mit.edu;hgsc.bcm.edu	37	1	16256217	16256217	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr1:16256217T>C	ENST00000375759.3	+	11	3686	c.3482T>C	c.(3481-3483)aTt>aCt	p.I1161T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1161					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.I1161T(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAATTGGCATTGACATCGAT	0.403																																																1	Substitution - Missense(1)	kidney(1)											48	44	46					1																	16256217		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3482T>C	1.37:g.16256217T>C	ENSP00000364912:p.Ile1161Thr		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732130	0.30684	.	.	ENSG00000065526	ENST00000375759	T	0.10288	2.89	5.2	5.2	0.72013	.	.	.	.	.	T	0.17450	0.0419	L	0.60455	1.87	0.42403	D	0.992579	P	0.52842	0.956	P	0.47528	0.549	T	0.02150	-1.1205	9	0.31617	T	0.26	-10.8372	15.2199	0.73303	0.0:0.0:0.0:1.0	.	1161	Q96T58	MINT_HUMAN	T	1161	ENSP00000364912:I1161T	ENSP00000364912:I1161T	I	+	2	0	SPEN	16128804	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.311000	0.65786	2.184000	0.69523	0.528000	0.53228	ATT		0.403	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		C	16256217	T	C	16256217	3	2	636	1	0	0	0	0	1	0	0	0	15043	1493	52	3	3524	3	SPEN	1	16256217	Missense_Mutation	SNP	T	TCGA-EU-5907-01A-11D-1669-08		16256217	232994404	1	34598											
RAP1GAP	5909	broad.mit.edu	37	1	21924516	21924516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr1:21924516delC	ENST00000374765.4	-	23	2121	c.1921delG	c.(1921-1923)gacfs	p.D641fs	RAP1GAP_ENST00000374763.2_Frame_Shift_Del_p.D726fs|RAP1GAP_ENST00000290101.4_Frame_Shift_Del_p.D705fs|RAP1GAP_ENST00000542643.2_Frame_Shift_Del_p.D659fs|RAP1GAP_ENST00000374761.2_Frame_Shift_Del_p.D672fs	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	641					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CACGCAGGGTCCCCCAACTTG	0.692																																																0													16	17	17					1																	21924516		2196	4281	6477	SO:0001589	frameshift_variant	5909			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1921delG	1.37:g.21924516delC	ENSP00000363897:p.Asp641fs		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Frame_Shift_Del	DEL	ENST00000374765.4	37	CCDS218.1																																																																																				0.692	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		-	21924516	C	-	21924516	7	5	636	1	0	1	0	1	0	0	0	0	13043	855	30	0	78	0	RAP1GAP	1	21924516	Frame_Shift_Del	DEL	C	TCGA-EU-5907-01A-11D-1669-08	5668299	21924516	227326105	2	34599											
ATG4C	84938	broad.mit.edu;hgsc.bcm.edu	37	1	63269471	63269471	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr1:63269471G>C	ENST00000317868.4	+	2	221	c.14G>C	c.(13-15)gGa>gCa	p.G5A	ATG4C_ENST00000371120.3_Missense_Mutation_p.G5A	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	5					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.G5A(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						GAGGCTACAGGAACAGATGAA	0.284																																																2	Substitution - Missense(2)	kidney(2)											59	61	60					1																	63269471		2203	4287	6490	SO:0001583	missense	84938			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)"	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.14G>C	1.37:g.63269471G>C	ENSP00000322159:p.Gly5Ala		A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245851	0.59103	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000443289;ENST00000540025;ENST00000371118	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	L	0.53249	1.67	0.80722	D	1	P	0.39480	0.675	B	0.28553	0.091	T	0.38067	-0.9678	9	0.30078	T	0.28	-19.2855	18.2493	0.89997	0.0:0.0:1.0:0.0	.	5	Q96DT6	ATG4C_HUMAN	A	5	.	ENSP00000322159:G5A	G	+	2	0	ATG4C	63042059	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.660000	0.74417	2.318000	0.78349	0.555000	0.69702	GGA		0.284	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		C	63269471	G	C	63269471	3	2	636	1	0	0	0	0	1	0	0	0	1098	1174	41	4	16	4	ATG4C	1	63269471	Missense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08	41344955	63269471	185981150	3	34600											
PI4KB	5298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151280208	151280208	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr1:151280208G>C	ENST00000368873.1	-	4	1192	c.1024C>G	c.(1024-1026)Ctc>Gtc	p.L342V	PI4KB_ENST00000368872.1_Missense_Mutation_p.L327V|PI4KB_ENST00000368874.4_Missense_Mutation_p.L327V|PI4KB_ENST00000271657.5_Missense_Mutation_p.L354V|PI4KB_ENST00000529142.1_Missense_Mutation_p.L10V|PI4KB_ENST00000368875.2_Missense_Mutation_p.L354V			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	342					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.L354V(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGGTGGGGAGCGTGGCCAGC	0.567																																					Colon(154;765 1838 9854 28443 37492)											1	Substitution - Missense(1)	kidney(1)											112	105	107					1																	151280208		2203	4300	6503	SO:0001583	missense	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1024C>G	1.37:g.151280208G>C	ENSP00000357867:p.Leu342Val		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37		.	.	.	.	.	.	.	.	.	.	G	19.74	3.883273	0.72410	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000430800;ENST00000489223	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-0.09;-1.46	5.89	5.89	0.94794	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	N	0.17838	0.53	0.80722	D	1	B;B;B	0.19331	0.005;0.035;0.027	B;B;B	0.27608	0.017;0.081;0.022	T	0.57441	-0.7811	10	0.18276	T	0.48	-16.6481	18.82	0.92092	0.0:0.0:1.0:0.0	.	342;327;10	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	V	327;354;354;342;10;327;10;10	ENSP00000357868:L327V;ENSP00000357869:L354V;ENSP00000271657:L354V;ENSP00000357867:L342V;ENSP00000433149:L10V;ENSP00000357866:L327V	ENSP00000271657:L354V	L	-	1	0	PI4KB	149546832	1.000000	0.71417	0.976000	0.42696	0.984000	0.73092	3.687000	0.54692	2.797000	0.96272	0.563000	0.77884	CTC		0.567	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		C	151280208	G	C	151280208	3	2	636	1	0	0	0	0	1	0	0	0	11876	971	34	4	1462	4	PI4KB	1	151280208	Missense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08	88010737	151280208	97970413	4	34601											
DDX18	8886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	118577223	118577223	+	Splice_Site	SNP	A	A	G			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr2:118577223A>G	ENST00000263239.2	+	3	498		c.e3-1		DDX18_ENST00000474694.1_Splice_Site	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18						ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTAAAACCAAAGATACGAAAA	0.303											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Unknown(1)	kidney(1)											36	35	35					2																	118577223		2203	4299	6502	SO:0001630	splice_region_variant	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.371-1A>G	2.37:g.118577223A>G		1489	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Splice_Site	SNP	ENST00000263239.2	37	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	A	9.503	1.103767	0.20632	.	.	ENSG00000088205	ENST00000263239	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2167	0.48830	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX18	118293693	1.000000	0.71417	0.999000	0.59377	0.113000	0.19764	4.043000	0.57354	1.934000	0.56057	0.528000	0.53228	.		0.303	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773	Intron	G	118577223	A	G	118577223	5	3	636	1	0	0	0	0	0	0	1	0	4347	86	3	3	379	3	DDX18	2	118577223	Splice_Site	SNP	A	TCGA-EU-5907-01A-11D-1669-08		118577223	124622150	5	34602											
THSD7B	80731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	138414637	138414637	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr2:138414637G>A	ENST00000409968.1	+	24	4460	c.4282G>A	c.(4282-4284)Ggc>Agc	p.G1428S	THSD7B_ENST00000272643.3_Missense_Mutation_p.G1431S|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1400S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1430	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.G1400S(1)|p.G1431S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACTTACAGGAGGCAAATGTTA	0.393																																																2	Substitution - Missense(2)	kidney(2)											109	106	107					2																	138414637		1915	4135	6050	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4282G>A	2.37:g.138414637G>A	ENSP00000387145:p.Gly1428Ser			Silent	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.463320	0.96257	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.51325	0.71;0.71;0.71	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64019	-0.6505	10	0.32370	T	0.25	.	20.8599	0.99761	0.0:0.0:1.0:0.0	.	1400	C9JKN6	.	S	1428;1431;1400	ENSP00000387145:G1428S;ENSP00000272643:G1431S;ENSP00000413841:G1400S	ENSP00000272643:G1431S	G	+	1	0	THSD7B	138131107	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	GGC		0.393	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		A	138414637	G	A	138414637	3	1	636	1	0	0	0	0	1	0	0	0	15885	1000	35	2	4284	2	THSD7B	2	138414637	Missense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08	19837414	138414637	104784736	6	34603											
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238249156	238249156	+	Silent	SNP	G	G	C			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr2:238249156G>C	ENST00000295550.4	-	38	8855	c.8403C>G	c.(8401-8403)tcC>tcG	p.S2801S	COL6A3_ENST00000353578.4_Silent_p.S2595S|COL6A3_ENST00000472056.1_Silent_p.S2194S|COL6A3_ENST00000409809.1_Silent_p.S2595S|COL6A3_ENST00000346358.4_Silent_p.S2601S|COL6A3_ENST00000347401.3_Silent_p.S2600S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2801	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S2801S(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGAGCTCGGTGGACTTGTCCA	0.557																																																1	Substitution - coding silent(1)	kidney(1)											95	84	88					2																	238249156		2203	4300	6503	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8403C>G	2.37:g.238249156G>C			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		C	238249156	G	C	238249156	2	2	636	1	0	0	0	0	0	0	0	1	3703	1335	47	4		4	COL6A3	2	238249156	Silent	SNP	G	TCGA-EU-5907-01A-11D-1669-08	99834519	238249156	4950217	7	34604											
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10183787	10183787	+	Frame_Shift_Del	DEL	C	C	-	rs398123481		TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr3:10183787delC	ENST00000256474.2	+	1	1096	c.256delC	c.(256-258)cccfs	p.P86fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.P86fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	86			P -> A (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|P -> H (in VHLD).|P -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|P -> R (in VHLD; type I). {ECO:0000269|PubMed:9829911}.|P -> S (in VHLD). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P86S(5)|p.P86fs*72(2)|p.S72_V87>L(1)|p.R60fs*35(1)|p.P86A(1)|p.V87fs*72(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.P86T(1)|p.L85fs*46(1)|p.L85fs*44(1)|p.V84fs*72(1)|p.V84_P86del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGTCGTGCTGCCCGTATGGCT	0.721		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"E, M, O"	18	Deletion - Frameshift(8)|Substitution - Missense(7)|Complex - deletion inframe(2)|Deletion - In frame(1)	kidney(17)|soft_tissue(1)	GRCh37	CM951276|CM952019	VHL	M							13	16	15					3																	10183787		2149	4208	6357	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.256delC	3.37:g.10183787delC	ENSP00000256474:p.Pro86fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		-	10183787	C	-	10183787	7	5	636	1	0	1	0	1	0	0	0	0	17167	739	26	0	258	0	VHL	3	10183787	Frame_Shift_Del	DEL	C	TCGA-EU-5907-01A-11D-1669-08		10183787	187838643	8	34605											
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52661325	52661325	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr3:52661325G>C	ENST00000296302.7	-	13	1506	c.1505C>G	c.(1504-1506)tCa>tGa	p.S502*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S502*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S502*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S502*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S502*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.S470*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S502*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S502*			Q86U86	PB1_HUMAN	polybromo 1	502					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S502*(2)|p.S470*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGAGGTGGCTGAAGAGATCAT	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											149	133	138					3																	52661325		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1505C>G	3.37:g.52661325G>C	ENSP00000296302:p.Ser502*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	39	7.440044	0.98286	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-0.253	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	X	470;502;502;502;502;502;502;502;502;446	.	ENSP00000296302:S502X	S	-	2	0	PBRM1	52636365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.110000	0.94302	2.826000	0.97356	0.655000	0.94253	TCA		0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		C	52661325	G	C	52661325	4	2	636	1	0	0	0	0	0	1	0	0	11493	1294	45	4	3467	4	PBRM1	3	52661325	Nonsense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08	42477538	52661325	145361105	9	34606											
TMEM108	66000	hgsc.bcm.edu	37	3	133099097	133099097	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr3:133099097G>A	ENST00000321871.6	+	4	752	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TMEM108_ENST00000515826.1_Missense_Mutation_p.R181H|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R181H	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	181	Pro-rich.					integral component of membrane (GO:0016021)		p.R181H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AATTCATCACGCCCTGTCCCG	0.682																																																1	Substitution - Missense(1)	kidney(1)											23	26	25					3																	133099097		2203	4299	6502	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.542G>A	3.37:g.133099097G>A	ENSP00000324651:p.Arg181His		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610155	0.46527	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.50548	0.74;0.74;0.74	4.32	2.33	0.28932	.	0.391872	0.20199	N	0.097139	T	0.33933	0.0880	L	0.57536	1.79	0.09310	N	1	P;B	0.41265	0.744;0.36	B;B	0.28784	0.094;0.06	T	0.26467	-1.0102	10	0.46703	T	0.11	-7.3257	7.2305	0.26040	0.0952:0.1696:0.7352:0.0	.	181;181	E9PB58;Q6UXF1	.;TM108_HUMAN	H	181	ENSP00000324651:R181H;ENSP00000376838:R181H;ENSP00000423338:R181H	ENSP00000324651:R181H	R	+	2	0	TMEM108	134581787	0.001000	0.12720	0.269000	0.24586	0.793000	0.44817	0.956000	0.29202	0.928000	0.37168	0.561000	0.74099	CGC		0.682	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		A	133099097	G	A	133099097	3	1	636	1	0	0	0	0	1	0	0	0	16029	1087	38	1	548	1	TMEM108	3	133099097	Missense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08	80437772	133099097	64923333	10	34607											
SLIT2	9353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	20541152	20541152	+	Missense_Mutation	SNP	C	C	A	rs553808717		TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr4:20541152C>A	ENST00000504154.1	+	19	2173	c.1921C>A	c.(1921-1923)Caa>Aaa	p.Q641K	SLIT2_ENST00000503823.1_Missense_Mutation_p.Q633K|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q637K|SLIT2_ENST00000273739.5_Missense_Mutation_p.Q645K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	641					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.Q641K(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTATGATAATCAAATTACTAC	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14976	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											136	129	131					4																	20541152		2203	4300	6503	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1921C>A	4.37:g.20541152C>A	ENSP00000422591:p.Gln641Lys		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.376165	0.61735	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.88	5.88	0.94601	.	0.050442	0.85682	D	0.000000	T	0.42404	0.1201	L	0.38692	1.165	0.58432	D	0.999999	B;P	0.39920	0.008;0.695	B;B	0.32724	0.016;0.151	T	0.26916	-1.0089	10	0.16420	T	0.52	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	633;641	O94813-3;O94813	.;SLIT2_HUMAN	K	633;641;645;637;637	ENSP00000427548:Q633K;ENSP00000422591:Q641K;ENSP00000273739:Q645K;ENSP00000422261:Q637K	ENSP00000273739:Q645K	Q	+	1	0	SLIT2	20150250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.036000	0.70948	2.780000	0.95670	0.655000	0.94253	CAA		0.378	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			A	20541152	C	A	20541152	3	1	636	1	0	0	0	0	1	0	0	0	14746	827	29	4	1995	4	SLIT2	4	20541152	Missense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08		20541152	170613124	11	34608											
MTTP	4547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	100532310	100532310	+	Missense_Mutation	SNP	C	C	T	rs561968572	byFrequency	TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr4:100532310C>T	ENST00000265517.5	+	13	1983	c.1780C>T	c.(1780-1782)Cgt>Tgt	p.R594C	MTTP_ENST00000511045.1_Missense_Mutation_p.R621C|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.R594C			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	594	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.R594C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CAAAATTGTCCGTCGAGTTCT	0.398													C|||	2	0.000399361	0.0	0.0	5008	,	,		17310	0.0		0.0	False		,,,				2504	0.002															1	Substitution - Missense(1)	kidney(1)											139	129	132					4																	100532310		2203	4300	6503	SO:0001583	missense	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1780C>T	4.37:g.100532310C>T	ENSP00000265517:p.Arg594Cys		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717701	0.68844	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.70869	-0.52;-0.52;-0.52	5.84	5.0	0.66597	Lipid transport protein, N-terminal (1);Vitellinogen, superhelical (2);	0.154327	0.64402	D	0.000012	T	0.78155	0.4239	M	0.70595	2.14	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.53185	0.72;0.609	T	0.80979	-0.1140	10	0.62326	D	0.03	-0.3192	14.7905	0.69837	0.0:0.9312:0.0:0.0688	.	621;594	E9PBP6;P55157	.;MTP_HUMAN	C	621;594;594	ENSP00000427679:R621C;ENSP00000400821:R594C;ENSP00000265517:R594C	ENSP00000265517:R594C	R	+	1	0	MTTP	100751333	1.000000	0.71417	0.990000	0.47175	0.613000	0.37349	3.848000	0.55903	1.475000	0.48197	0.655000	0.94253	CGT		0.398	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			T	100532310	C	T	100532310	3	4	636	1	0	0	0	0	1	0	0	0	9966	652	23	1	1830	1	MTTP	4	100532310	Missense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08	79991158	100532310	90621966	12	34609											
GOLPH3	64083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32126321	32126321	+	Silent	SNP	C	C	T			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr5:32126321C>T	ENST00000265070.6	-	4	1209	c.894G>A	c.(892-894)aaG>aaA	p.K298K	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	298					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.K298K(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						AGCAGAGTTACTTGGTGAACG	0.488																																																1	Substitution - coding silent(1)	kidney(1)											106	107	106					5																	32126321		2203	4300	6503	SO:0001819	synonymous_variant	64083			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.894G>A	5.37:g.32126321C>T			Q9UIW5	Silent	SNP	ENST00000265070.6	37	CCDS3896.1																																																																																				0.488	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		T	32126321	C	T	32126321	2	4	636	1	0	0	0	0	0	0	0	1	6570	564	20	2		2	GOLPH3	5	32126321	Silent	SNP	C	TCGA-EU-5907-01A-11D-1669-08		32126321	148788939	13	34610											
FOXD1	2297	broad.mit.edu	37	5	72743654	72743654	+	Silent	SNP	C	C	T	rs1052207		TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr5:72743654C>T	ENST00000499003.3	-	1	698	c.534G>A	c.(532-534)tcG>tcA	p.S178S	FOXD1_ENST00000513595.1_5'Flank|RP11-79P5.2_ENST00000514661.1_lincRNA	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	178					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S178S(2)		endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		AGTCGTTGAGCGAGAGGTTGT	0.637																																																2	Substitution - coding silent(2)	kidney(2)											71	86	81					5																	72743654		2203	4299	6502	SO:0001819	synonymous_variant	2297			U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"Forkhead boxes"	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.534G>A	5.37:g.72743654C>T			Q12949	Silent	SNP	ENST00000499003.3	37																																																																																					0.637	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000369154.2	NM_004472		T	72743654	C	T	72743654	2	4	636	1	0	0	0	0	0	0	0	1	5998	755	27	1		1	FOXD1	5	72743654	Silent	SNP	C	TCGA-EU-5907-01A-11D-1669-08	40617333	72743654	108171606	14	34611											
UNC5A	90249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176305475	176305475	+	Splice_Site	SNP	G	G	A			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr5:176305475G>A	ENST00000329542.4	+	13	2293		c.e13-1		UNC5A_ENST00000261961.3_Splice_Site	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCCCATCAGGAGATCCCCT	0.612																																																1	Unknown(1)	kidney(1)											89	83	85					5																	176305475		2203	4300	6503	SO:0001630	splice_region_variant	90249			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2020-1G>A	5.37:g.176305475G>A			B2RXE6|Q8TF26|Q96GP4	Splice_Site	SNP	ENST00000329542.4	37	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275028	0.80580	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.176	0.89761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC5A	176238081	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.860000	0.99555	2.641000	0.89580	0.491000	0.48974	.		0.612	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300	Intron	A	176305475	G	A	176305475	5	1	636	1	0	0	0	0	0	0	1	0	16996	1014	35	2	2069	2	UNC5A	5	176305475	Splice_Site	SNP	G	TCGA-EU-5907-01A-11D-1669-08	103561821	176305475	4609785	15	34612											
MRPL2	51069	broad.mit.edu;hgsc.bcm.edu	37	6	43024130	43024130	+	Missense_Mutation	SNP	T	T	G			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr6:43024130T>G	ENST00000388752.3	-	3	743	c.319A>C	c.(319-321)Att>Ctt	p.I107L	CUL7_ENST00000265348.3_5'Flank|CUL7_ENST00000535468.1_5'Flank|MRPL2_ENST00000230413.5_Missense_Mutation_p.I107L|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	107					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I107L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		AGAAAGTCAATCATTCGATAA	0.512																																																1	Substitution - Missense(1)	kidney(1)											93	82	86					6																	43024130		2203	4300	6503	SO:0001583	missense	51069			AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"Mitochondrial ribosomal proteins / large subunits"	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.319A>C	6.37:g.43024130T>G	ENSP00000373404:p.Ile107Leu		B2RC56|Q8WUL1|Q96Q56|Q9Y311	Missense_Mutation	SNP	ENST00000388752.3	37	CCDS34454.1	.	.	.	.	.	.	.	.	.	.	t	18.54	3.646818	0.67358	.	.	ENSG00000112651	ENST00000388752;ENST00000230413	T	0.51817	0.69	5.86	5.86	0.93980	Nucleic acid-binding, OB-fold-like (1);Ribosomal Proteins L2, RNA binding domain (1);Nucleic acid-binding, OB-fold (1);	0.051433	0.85682	D	0.000000	T	0.65428	0.2690	M	0.91768	3.24	0.80722	D	1	D;B	0.57899	0.981;0.137	P;B	0.58077	0.832;0.063	T	0.75277	-0.3374	10	0.87932	D	0	-13.5974	14.8262	0.70113	0.0:0.0:0.0:1.0	.	107;107	B4DVE2;Q5T653	.;RM02_HUMAN	L	107	ENSP00000373404:I107L	ENSP00000230413:I107L	I	-	1	0	MRPL2	43132108	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.413000	0.44618	2.239000	0.73571	0.529000	0.55759	ATT		0.512	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			G	43024130	T	G	43024130	3	3	636	1	0	0	0	0	1	0	0	0	9787	1435	50	5	618	5	MRPL2	6	43024130	Missense_Mutation	SNP	T	TCGA-EU-5907-01A-11D-1669-08		43024130	128090937	16	34613											
MET	4233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116380121	116380121	+	Missense_Mutation	SNP	G	G	C	rs587780735		TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr7:116380121G>C	ENST00000318493.6	+	4	1697	c.1510G>C	c.(1510-1512)Gtt>Ctt	p.V504L	MET_ENST00000436117.2_Missense_Mutation_p.V504L|MET_ENST00000397752.3_Missense_Mutation_p.V504L|MET_ENST00000495962.1_3'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V504L(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTACACACTGGTTATCACTGG	0.443			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)											151	133	139					7																	116380121		1871	4102	5973	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1510G>C	7.37:g.116380121G>C	ENSP00000317272:p.Val504Leu		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933589	0.34096	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.06294	3.32;3.32;3.32	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.178797	0.49916	D	0.000132	T	0.10981	0.0268	L	0.58428	1.81	0.80722	D	1	P;B;B;B;B;B;B;B;B;P	0.47302	0.893;0.003;0.245;0.005;0.005;0.009;0.009;0.052;0.057;0.891	B;B;B;B;B;B;B;B;B;B	0.41946	0.371;0.019;0.118;0.019;0.019;0.019;0.028;0.036;0.046;0.338	T	0.16512	-1.0400	10	0.22109	T	0.4	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	504;504;504;504;504;504;504;504;504;504	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;P08581	.;.;.;.;.;.;.;.;.;MET_HUMAN	L	504	ENSP00000380860:V504L;ENSP00000317272:V504L;ENSP00000410980:V504L	ENSP00000317272:V504L	V	+	1	0	MET	116167357	1.000000	0.71417	0.952000	0.39060	0.875000	0.50365	4.475000	0.60210	2.794000	0.96219	0.655000	0.94253	GTT		0.443	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			C	116380121	G	C	116380121	3	2	636	1	0	0	0	0	1	0	0	0	9487	1261	44	4	1520	4	MET	7	116380121	Missense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08		116380121	42758542	17	34614											
AASS	10157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121717991	121717991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr7:121717991delT	ENST00000393376.1	-	22	2658	c.2563delA	c.(2563-2565)acgfs	p.T855fs	AASS_ENST00000417368.2_Frame_Shift_Del_p.T855fs|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	855	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.T855P(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AGATCAATCGTTTTATGTTCT	0.413																																																1	Substitution - Missense(1)	large_intestine(1)											272	286	281					7																	121717991		2203	4300	6503	SO:0001589	frameshift_variant	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2563delA	7.37:g.121717991delT	ENSP00000377040:p.Thr855fs		O95462	Frame_Shift_Del	DEL	ENST00000393376.1	37	CCDS5783.1																																																																																				0.413	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		-	121717991	T	-	121717991	7	5	636	1	0	1	0	1	0	0	0	0	24	1725	60	0	225	0	AASS	7	121717991	Frame_Shift_Del	DEL	T	TCGA-EU-5907-01A-11D-1669-08	5337870	121717991	37420672	18	34615											
ATP6V1B2	526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	20075680	20075680	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr8:20075680T>C	ENST00000276390.2	+	13	1323	c.1283T>C	c.(1282-1284)aTt>aCt	p.I428T		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	428					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.I428T(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	TGCTATGCTATTGGAAAGGAT	0.438																																					Pancreas(119;1230 1726 3901 4036 31644)											1	Substitution - Missense(1)	kidney(1)											158	144	149					8																	20075680		2203	4300	6503	SO:0001583	missense	526			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1283T>C	8.37:g.20075680T>C	ENSP00000276390:p.Ile428Thr		B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.105844	0.77096	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.75938	-0.98	5.56	5.56	0.83823	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	M	0.79614	2.46	0.80722	D	1	B	0.30793	0.295	B	0.36186	0.219	T	0.76745	-0.2846	10	0.42905	T	0.14	-31.3571	14.8249	0.70104	0.0:0.0:0.0:1.0	.	428	P21281	VATB2_HUMAN	T	428;302	ENSP00000276390:I428T	ENSP00000276390:I428T	I	+	2	0	ATP6V1B2	20119960	1.000000	0.71417	0.819000	0.32651	0.787000	0.44495	6.295000	0.72744	2.241000	0.73720	0.533000	0.62120	ATT		0.438	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		C	20075680	T	C	20075680	3	2	636	1	0	0	0	0	1	0	0	0	1179	1493	52	3	1333	3	ATP6V1B2	8	20075680	Missense_Mutation	SNP	T	TCGA-EU-5907-01A-11D-1669-08		20075680	126288342	19	34616											
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110477389	110477389	+	Silent	SNP	C	C	T	rs376156063		TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr8:110477389C>T	ENST00000378402.5	+	49	8432	c.8328C>T	c.(8326-8328)gaC>gaT	p.D2776D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2776					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D2778D(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTTGTTGACGTCCAGTATT	0.433										HNSCC(38;0.096)																																						2	Substitution - coding silent(2)	prostate(1)|kidney(1)						C		0,3904		0,0,1952	106	108	108		8328	4	0.2	8		108	1,8275		0,1,4137	no	coding-synonymous	PKHD1L1	NM_177531.4		0,1,6089	TT,TC,CC		0.0121,0.0,0.0082		2776/4244	110477389	1,12179	1952	4138	6090	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8328C>T	8.37:g.110477389C>T			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		T	110477389	C	T	110477389	2	4	636	1	0	0	0	0	0	0	0	1	11974	535	19	1		1	PKHD1L1	8	110477389	Silent	SNP	C	TCGA-EU-5907-01A-11D-1669-08	90401709	110477389	35886633	20	34617											
FLJ46321	389763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	84605805	84605805	+	Silent	SNP	C	C	A			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr9:84605805C>A	ENST00000344803.2	+	4	467	c.420C>A	c.(418-420)atC>atA	p.I140I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	140					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.I140I(2)									CTGCTGATATCCAGCAACTGC	0.552																																																2	Substitution - coding silent(2)	kidney(2)											123	119	120					9																	84605805		1997	4163	6160	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.420C>A	9.37:g.84605805C>A				Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																				0.552	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		A	84605805	C	A	84605805	2	1	636	1	0	0	0	0	0	0	0	1	5934	845	30	4		4	FLJ46321	9	84605805	Silent	SNP	C	TCGA-EU-5907-01A-11D-1669-08		84605805	56607626	21	34618											
MYO3A	53904	broad.mit.edu;ucsc.edu	37	10	26463158	26463158	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr10:26463158G>T	ENST00000265944.5	+	30	4131	c.3965G>T	c.(3964-3966)gGc>gTc	p.G1322V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1322					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G1322V(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAGGAGGAAGGCAGAGGCCGT	0.478																																																1	Substitution - Missense(1)	kidney(1)											124	131	129					10																	26463158		2203	4300	6503	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3965G>T	10.37:g.26463158G>T	ENSP00000265944:p.Gly1322Val		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	1.657	-0.512406	0.04200	.	.	ENSG00000095777	ENST00000265944	T	0.78481	-1.18	0.158	0.158	0.14942	.	0.707258	0.12423	U	0.470276	T	0.52565	0.1742	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.42172	-0.9467	10	0.54805	T	0.06	.	2.9707	0.05922	2.0E-4:2.0E-4:0.5121:0.4875	.	1322	Q8NEV4	MYO3A_HUMAN	V	1322	ENSP00000265944:G1322V	ENSP00000265944:G1322V	G	+	2	0	MYO3A	26503164	0.014000	0.17966	0.003000	0.11579	0.005000	0.04900	0.251000	0.18257	0.202000	0.20498	0.205000	0.17691	GGC		0.478	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		T	26463158	G	T	26463158	3	4	636	1	0	0	0	0	1	0	0	0	10078	1203	42	4	4075	4	MYO3A	10	26463158	Missense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08		26463158	109071589	22	34619											
ZMIZ1	57178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	81065919	81065919	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr10:81065919C>T	ENST00000334512.5	+	22	3058	c.2486C>T	c.(2485-2487)tCg>tTg	p.S829L	ZMIZ1_ENST00000446377.2_5'Flank	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	829					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S829L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCATCAAGTCGGACTTACAC	0.592																																																1	Substitution - Missense(1)	kidney(1)											75	64	68					10																	81065919		2203	4300	6503	SO:0001583	missense	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2486C>T	10.37:g.81065919C>T	ENSP00000334474:p.Ser829Leu		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014388	0.75161	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.34072	1.38	4.87	4.87	0.63330	.	0.000000	0.35096	N	0.003457	T	0.33904	0.0879	L	0.47190	1.495	0.80722	D	1	B	0.30741	0.293	B	0.24848	0.056	T	0.12319	-1.0552	10	0.38643	T	0.18	-7.9231	18.389	0.90475	0.0:1.0:0.0:0.0	.	829	Q9ULJ6	ZMIZ1_HUMAN	L	829;759;731	ENSP00000334474:S829L	ENSP00000334474:S829L	S	+	2	0	ZMIZ1	80735925	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.458000	0.80787	2.418000	0.82041	0.491000	0.48974	TCG		0.592	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		T	81065919	C	T	81065919	3	4	636	1	0	0	0	0	1	0	0	0	17701	893	31	1	2556	1	ZMIZ1	10	81065919	Missense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08	54602761	81065919	54468828	23	34620											
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	10	89692880	89692893	+	Frame_Shift_Del	DEL	ATTCACTGTAAAGC	ATTCACTGTAAAGC	-	rs121909222|rs121909223		TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	ATTCACTGTAAAGC	ATTCACTGTAAAGC	ATTCACTGTAAAGC	-	ATTCACTGTAAAGC	ATTCACTGTAAAGC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr10:89692880_89692893delATTCACTGTAAAGC	ENST00000371953.3	+	5	1721_1734	c.364_377delATTCACTGTAAAGC	c.(364-378)attcactgtaaagctfs	p.IHCKA122fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	122	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.C124S(7)|p.A126T(6)|p.?(5)|p.R55fs*1(5)|p.H123Y(5)|p.C124fs*10(3)|p.I122fs*2(3)|p.A126D(3)|p.K125N(2)|p.K125E(2)|p.A126V(2)|p.Y27fs*1(2)|p.A126S(2)|p.A126P(2)|p.C124F(1)|p.I122N(1)|p.I122S(1)|p.A121_F145del(1)|p.C124R(1)|p.F56fs*2(1)|p.C124Y(1)|p.A126fs*8(1)|p.H123D(1)|p.K125*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGA	0.407		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	96	Whole gene deletion(37)|Substitution - Missense(37)|Deletion - Frameshift(15)|Unknown(5)|Deletion - In frame(1)|Substitution - Nonsense(1)	central_nervous_system(27)|endometrium(19)|prostate(16)|lung(8)|skin(6)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|large_intestine(3)|thyroid(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)	GRCh37	CI004327|CM020755|CM041823|CM971270|CM971271	PTEN	I|M	rs121909222|rs121909223																																			SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.364_377delATTCACTGTAAAGC	10.37:g.89692880_89692893delATTCACTGTAAAGC	ENSP00000361021:p.Ile122fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.407	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		-	89692893	ATTCACTGTAAAGC	-	89692880	7	5	636	1	0	1	0	1	0	0	0	0	12743	101	4	0	382	0	PTEN	10	89692880	Frame_Shift_Del	DEL	ATTCACTGTAAAGC	TCGA-EU-5907-01A-11D-1669-08	8626961	89692880	45841867	24	34621											
EIF3A	8661	broad.mit.edu;hgsc.bcm.edu	37	10	120832959	120832959	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr10:120832959G>A	ENST00000369144.3	-	3	498	c.371C>T	c.(370-372)cCt>cTt	p.P124L	EIF3A_ENST00000541549.1_Missense_Mutation_p.P90L	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.P124L(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATACCTCTCAGGAGTTTGAAT	0.353																																																1	Substitution - Missense(1)	kidney(1)											106	109	108					10																	120832959		2203	4299	6502	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.371C>T	10.37:g.120832959G>A	ENSP00000358140:p.Pro124Leu		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333633	0.81801	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.45668	0.89;0.89	6.17	6.17	0.99709	.	0.000000	0.39146	N	0.001446	T	0.73837	0.3638	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77107	-0.2710	10	0.87932	D	0	-22.9813	20.8794	0.99867	0.0:0.0:1.0:0.0	.	124	Q14152	EIF3A_HUMAN	L	124;90	ENSP00000358140:P124L;ENSP00000438178:P90L	ENSP00000358140:P124L	P	-	2	0	EIF3A	120822949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.827000	0.99397	2.941000	0.99782	0.655000	0.94253	CCT		0.353	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		A	120832959	G	A	120832959	3	1	636	1	0	0	0	0	1	0	0	0	5014	1000	35	2	3857	2	EIF3A	10	120832959	Missense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08	31140079	120832959	14701788	25	34622											
HPS5	11234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18303659	18303659	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr11:18303659C>G	ENST00000349215.3	-	22	3444	c.3167G>C	c.(3166-3168)gGg>gCg	p.G1056A	HPS5_ENST00000438420.2_Missense_Mutation_p.G942A|HPS5_ENST00000396253.3_Missense_Mutation_p.G942A|HPS5_ENST00000537258.1_Missense_Mutation_p.G163A|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1056					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.G1056A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGGGGAAGGCCCATCACTGAG	0.562									Hermansky-Pudlak syndrome																																							1	Substitution - Missense(1)	kidney(1)											84	79	81					11																	18303659		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3167G>C	11.37:g.18303659C>G	ENSP00000265967:p.Gly1056Ala		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752175	0.49362	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258	T;T;T	0.53857	0.6;0.6;0.6	4.82	3.92	0.45320	.	0.777924	0.12207	N	0.489725	T	0.33962	0.0881	N	0.19112	0.55	0.80722	D	1	P	0.34615	0.459	B	0.33960	0.173	T	0.09751	-1.0660	10	0.02654	T	1	.	13.0027	0.58685	0.0:0.9222:0.0:0.0778	.	1056	Q9UPZ3	HPS5_HUMAN	A	942;942;1056;163	ENSP00000379552:G942A;ENSP00000399590:G942A;ENSP00000265967:G1056A	ENSP00000265967:G1056A	G	-	2	0	HPS5	18260235	0.148000	0.22702	0.998000	0.56505	0.973000	0.67179	2.142000	0.42177	1.248000	0.43934	0.650000	0.86243	GGG		0.562	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		G	18303659	C	G	18303659	3	3	636	1	0	0	0	0	1	0	0	0	7344	623	22	4	230	4	HPS5	11	18303659	Missense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08		18303659	116702857	26	34623											
SLC22A9	114571	hgsc.bcm.edu	37	11	63137795	63137796	+	In_Frame_Ins	INS	-	-	CGCGCG	rs377211288		TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr11:63137795_63137796insCGCGCG	ENST00000279178.3	+	1	516_517	c.267_268insCGCGCG	c.(268-270)cgc>CGCGCGcgc	p.90_90R>RAR	SLC22A9_ENST00000310969.4_In_Frame_Ins_p.90_90R>RAR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	90					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGAAGTGTCGTCGCTTTGTTCA	0.535																																																0																																										SO:0001652	inframe_insertion	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	Exception_encountered	11.37:g.63137795_63137796insCGCGCG	Exception_encountered		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	In_Frame_Ins	INS	ENST00000279178.3	37	CCDS8043.1																																																																																				0.535	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		CGCGCG	63137796	-	CGCGCG	63137795	7	5	636	1	0	1	1	0	0	0	0	0	14467	1654	58	0	269	0	SLC22A9	11	63137795	In_Frame_Ins	INS	-	TCGA-EU-5907-01A-11D-1669-08	44834136	63137795	71868721	27	34624											
TMEM123	114908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	102272803	102272803	+	Missense_Mutation	SNP	T	T	C	rs373043680		TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr11:102272803T>C	ENST00000398136.2	-	3	712	c.292A>G	c.(292-294)Aca>Gca	p.T98A	TMEM123_ENST00000532161.1_Missense_Mutation_p.T10A|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.T79A	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	98	Thr-rich.				oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T98A(1)		breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		CCTGGTGTTGTTGTATTAGAT	0.423													T|||	1	0.000199681	0.0	0.0	5008	,	,		14653	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	kidney(1)						T	ALA/THR	0,4038		0,0,2019	459	424	435		292	-5.1	0	11		435	1,8337		0,1,4168	no	missense	TMEM123	NM_052932.2	58	0,1,6187	CC,CT,TT		0.012,0.0,0.0081	benign	98/209	102272803	1,12375	2019	4169	6188	SO:0001583	missense	114908			AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"pro oncosis receptor inducing membrane injury gene"	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.292A>G	11.37:g.102272803T>C	ENSP00000381204:p.Thr98Ala		Q8IWS2|Q96QV2	Missense_Mutation	SNP	ENST00000398136.2	37	CCDS41702.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799772	0.50208	0.0	1.2E-4	ENSG00000152558	ENST00000361236;ENST00000398136;ENST00000532161;ENST00000528969;ENST00000531103	T;T;T;T	0.52754	1.98;1.65;0.65;0.65	5.63	-5.07	0.02938	.	0.848450	0.10299	N	0.691332	T	0.27063	0.0663	L	0.34521	1.04	0.09310	N	1	B;B	0.17038	0.002;0.02	B;B	0.15484	0.004;0.013	T	0.25676	-1.0125	10	0.54805	T	0.06	-3.131	1.3565	0.02183	0.4037:0.3034:0.1198:0.1732	.	79;98	Q8N131-2;Q8N131	.;PORIM_HUMAN	A	79;98;10;10;10	ENSP00000355285:T79A;ENSP00000381204:T98A;ENSP00000435331:T10A;ENSP00000434976:T10A	ENSP00000355285:T79A	T	-	1	0	TMEM123	101778013	0.005000	0.15991	0.000000	0.03702	0.005000	0.04900	-0.154000	0.10130	-0.637000	0.05516	0.460000	0.39030	ACA		0.423	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1	NM_052932		C	102272803	T	C	102272803	3	2	636	1	0	0	0	0	1	0	0	0	16041	1725	60	3	346	3	TMEM123	11	102272803	Missense_Mutation	SNP	T	TCGA-EU-5907-01A-11D-1669-08	39135008	102272803	32733713	28	34625											
SPSB2	84727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6981774	6981774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr12:6981774C>A	ENST00000524270.1	-	2	478	c.292G>T	c.(292-294)Gag>Tag	p.E98*	LRRC23_ENST00000433346.1_5'Flank|SPSB2_ENST00000519357.1_Nonsense_Mutation_p.E98*|SPSB2_ENST00000523102.1_Nonsense_Mutation_p.E98*|RPL13P5_ENST00000412023.1_RNA	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	98	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.E98*(1)		kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCCCTCTGCTCTAGGGGCCAG	0.697											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Nonsense(1)	kidney(1)											29	33	31					12																	6981774		2203	4297	6500	SO:0001587	stop_gained	84727			AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.292G>T	12.37:g.6981774C>A	ENSP00000428338:p.Glu98*	638	B7Z4W1|D3DUT0	Nonsense_Mutation	SNP	ENST00000524270.1	37	CCDS8567.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785609	0.49997	.	.	ENSG00000111671	ENST00000523102;ENST00000524270;ENST00000519357	.	.	.	3.84	2.94	0.34122	.	0.480118	0.19336	N	0.116781	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	5.3577	0.16071	0.0:0.677:0.2083:0.1147	.	.	.	.	X	98	.	ENSP00000431037:E98X	E	-	1	0	SPSB2	6852035	0.000000	0.05858	0.766000	0.31476	0.181000	0.23173	0.216000	0.17585	0.942000	0.37525	0.563000	0.77884	GAG		0.697	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375721.1	NM_032641		A	6981774	C	A	6981774	4	1	636	1	0	0	0	0	0	1	0	0	15118	922	32	4	507	4	SPSB2	12	6981774	Nonsense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08		6981774	126870121	29	34626											
PLEKHG7	440107	broad.mit.edu;ucsc.edu	37	12	93134670	93134670	+	Silent	SNP	T	T	C			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr12:93134670T>C	ENST00000344636.3	+	3	229	c.45T>C	c.(43-45)taT>taC	p.Y15Y	PLEKHG7_ENST00000549856.1_Silent_p.Y15Y	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	15	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y15Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CTCATGAATATCTCCTAGATG	0.323																																																1	Substitution - coding silent(1)	kidney(1)											84	84	84					12																	93134670		2203	4300	6503	SO:0001819	synonymous_variant	440107			AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.45T>C	12.37:g.93134670T>C			B2RNR7	Silent	SNP	ENST00000344636.3	37	CCDS31873.1																																																																																				0.323	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		C	93134670	T	C	93134670	2	2	636	1	0	0	0	0	0	0	0	1	12077	1442	50	3		3	PLEKHG7	12	93134670	Silent	SNP	T	TCGA-EU-5907-01A-11D-1669-08	86152896	93134670	40717225	30	34627											
CHST11	50515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104851282	104851282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr12:104851282delC	ENST00000303694.5	+	1	532	c.93delC	c.(91-93)ttcfs	p.F31fs	CHST11_ENST00000547956.1_Frame_Shift_Del_p.F31fs|CHST11_ENST00000546689.1_Frame_Shift_Del_p.F31fs|CHST11_ENST00000549260.1_Frame_Shift_Del_p.F31fs	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	31					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TGGTCATCTTCTATTTCCAAA	0.512																																																0													217	203	207					12																	104851282		2203	4300	6503	SO:0001589	frameshift_variant	50515			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.93delC	12.37:g.104851282delC	ENSP00000305725:p.Phe31fs		A8K4F8|Q9NXY6|Q9NY36	Frame_Shift_Del	DEL	ENST00000303694.5	37	CCDS9099.1																																																																																				0.512	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		-	104851282	C	-	104851282	7	5	636	1	0	1	0	1	0	0	0	0	3401	912	32	0	95	0	CHST11	12	104851282	Frame_Shift_Del	DEL	C	TCGA-EU-5907-01A-11D-1669-08	11716612	104851282	29000613	31	34628											
C13orf30	144809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	43362794	43362794	+	Silent	SNP	A	A	C			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr13:43362794A>C	ENST00000537894.1	+	4	411	c.288A>C	c.(286-288)tcA>tcC	p.S96S	FAM216B_ENST00000313851.1_Silent_p.S96S	NM_182508.2	NP_872314.1	Q8N7L0	F216B_HUMAN	family with sequence similarity 216, member B	96								p.S96S(1)									AGAGAGCCTCAGCCAAGGTAG	0.453																																																1	Substitution - coding silent(1)	kidney(1)											111	103	105					13																	43362794		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098238	CCDS9386.1	13q14.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000179813	ENSG00000179813			26883	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 30"	C13orf30			Standard	NM_182508		Approved	FLJ40919	uc010tfk.2	Q8N7L0	OTTHUMG00000016809	ENST00000537894.1:c.288A>C	13.37:g.43362794A>C			B1ALI3	Silent	SNP	ENST00000537894.1	37	CCDS9386.1																																																																																				0.453	FAM216B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044705.2	NM_182508		C	43362794	A	C	43362794	2	2	636	1	0	0	0	0	0	0	0	1	1727	175	7	5		5	C13orf30	13	43362794	Silent	SNP	A	TCGA-EU-5907-01A-11D-1669-08		43362794	71807084	32	34629											
RABGGTA	5875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24737807	24737807	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr14:24737807C>G	ENST00000399409.3	-	9	1402	c.919G>C	c.(919-921)Gcc>Ccc	p.A307P	RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Missense_Mutation_p.A307P	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	307					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.A307P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TTGAGGGAGGCAGCAGGCAGG	0.542																																																1	Substitution - Missense(1)	kidney(1)											85	91	89					14																	24737807		2085	4202	6287	SO:0001583	missense	5875				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"Prenyltransferase alpha subunit repeat containing"	9795	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 3"	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.919G>C	14.37:g.24737807C>G	ENSP00000382341:p.Ala307Pro		A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	4.772	0.143537	0.09134	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.50548	0.74;0.74	5.11	-0.039	0.13878	Rab geranylgeranyltransferase, alpha subunit, insert-domain (4);	0.698644	0.15113	N	0.279879	T	0.24547	0.0595	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.12682	-1.0538	10	0.30854	T	0.27	0.4037	5.3589	0.16077	0.1262:0.4833:0.0:0.3905	.	307	Q92696	PGTA_HUMAN	P	307;307;270	ENSP00000216840:A307P;ENSP00000382341:A307P	ENSP00000216840:A307P	A	-	1	0	RABGGTA	23807647	0.698000	0.27777	0.012000	0.15200	0.585000	0.36419	1.341000	0.33907	-0.216000	0.10048	-0.379000	0.06801	GCC		0.542	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		G	24737807	C	G	24737807	3	3	636	1	0	0	0	0	1	0	0	0	12973	710	25	4	816	4	RABGGTA	14	24737807	Missense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08		24737807	82611733	33	34630											
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24885001	24885001	+	Missense_Mutation	SNP	C	C	T	rs538061448		TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr14:24885001C>T	ENST00000382554.3	+	9	4364	c.4046C>T	c.(4045-4047)aCg>aTg	p.T1349M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1349					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.T1349M(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCCCCTTACACGCCAACCTAT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17104	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	kidney(1)											102	109	106					14																	24885001		2038	4163	6201	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4046C>T	14.37:g.24885001C>T	ENSP00000371994:p.Thr1349Met		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750312	0.49257	.	.	ENSG00000205978	ENST00000382554	T	0.12879	2.64	4.93	4.93	0.64822	Ribonuclease H-like (1);	.	.	.	.	T	0.25344	0.0616	N	0.24115	0.695	0.21841	N	0.999514	D	0.89917	1.0	D	0.73708	0.981	T	0.11348	-1.0591	9	0.87932	D	0	.	15.6876	0.77424	0.0:1.0:0.0:0.0	.	1349	Q9P2P1	NYNRI_HUMAN	M	1349	ENSP00000371994:T1349M	ENSP00000371994:T1349M	T	+	2	0	NYNRIN	23954841	0.719000	0.27986	0.767000	0.31495	0.960000	0.62799	3.413000	0.52686	2.551000	0.86045	0.655000	0.94253	ACG		0.597	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			T	24885001	C	T	24885001	3	4	636	1	0	0	0	0	1	0	0	0	10798	536	19	1	4076	1	NYNRIN	14	24885001	Missense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08	147194	24885001	82464539	34	34631											
PHF23	79142	broad.mit.edu;ucsc.edu	37	17	7139291	7139291	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr17:7139291C>G	ENST00000320316.3	-	4	1181	c.955G>C	c.(955-957)Ggc>Cgc	p.G319R	DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.G315R|PHF23_ENST00000576955.1_Missense_Mutation_p.G189R|PHF23_ENST00000571362.1_Missense_Mutation_p.G252R	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	319							zinc ion binding (GO:0008270)	p.G319R(1)		breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CGCATCTCGCCTTCACTGGAG	0.577																																																1	Substitution - Missense(1)	kidney(1)											281	291	288					17																	7139291		2081	4216	6297	SO:0001583	missense	79142			AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.955G>C	17.37:g.7139291C>G	ENSP00000322579:p.Gly319Arg		A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482018	0.44147	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.31510	1.49;1.49	4.65	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	N	0.19112	0.55	0.51482	D	0.999926	P;B	0.36438	0.553;0.272	B;B	0.35240	0.198;0.085	T	0.05500	-1.0881	10	0.72032	D	0.01	-9.0452	8.4448	0.32836	0.0:0.8931:0.0:0.1069	.	252;319	B4DLK6;Q9BUL5	.;PHF23_HUMAN	R	319;315	ENSP00000322579:G319R;ENSP00000414607:G315R	ENSP00000322579:G319R	G	-	1	0	PHF23	7080015	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.603000	0.61105	1.161000	0.42604	0.313000	0.20887	GGC		0.577	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		G	7139291	C	G	7139291	3	3	636	1	0	0	0	0	1	0	0	0	11837	681	24	4	264	4	PHF23	17	7139291	Missense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08		7139291	74055919	35	34632											
MYH4	4622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10366258	10366258	+	Missense_Mutation	SNP	T	T	A			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr17:10366258T>A	ENST00000255381.2	-	11	1042	c.932A>T	c.(931-933)tAt>tTt	p.Y311F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	311	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.Y311F(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCGAAGTCATATGGGTTGGT	0.418																																																1	Substitution - Missense(1)	kidney(1)											124	120	121					17																	10366258		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.932A>T	17.37:g.10366258T>A	ENSP00000255381:p.Tyr311Phe			Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425236	0.62733	.	.	ENSG00000141048	ENST00000255381	T	0.71698	-0.59	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.000000	0.34245	U	0.004124	T	0.72203	0.3431	M	0.73962	2.25	0.58432	D	0.999998	B	0.06786	0.001	B	0.21360	0.034	T	0.70350	-0.4896	10	0.51188	T	0.08	.	15.659	0.77169	0.0:0.0:0.0:1.0	.	311	Q9Y623	MYH4_HUMAN	F	311	ENSP00000255381:Y311F	ENSP00000255381:Y311F	Y	-	2	0	MYH4	10306983	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.994000	0.63901	2.153000	0.67306	0.528000	0.53228	TAT		0.418	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10366258	T	A	10366258	3	1	636	1	0	0	0	0	1	0	0	0	10039	1406	49	5	5007	5	MYH4	17	10366258	Missense_Mutation	SNP	T	TCGA-EU-5907-01A-11D-1669-08	3226967	10366258	70828952	36	34633			1	57		3	3	627	N	T_C	5.305859e-07
MYH4	4622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10366705	10366705	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr17:10366705C>G	ENST00000255381.2	-	9	865	c.755G>C	c.(754-756)aGg>aCg	p.R252T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	252	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R252T(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAAATGGATCCTGATGAATTT	0.323																																																1	Substitution - Missense(1)	kidney(1)											62	67	66					17																	10366705		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.755G>C	17.37:g.10366705C>G	ENSP00000255381:p.Arg252Thr			Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488565	0.84854	.	.	ENSG00000141048	ENST00000255381	T	0.72167	-0.63	4.96	4.96	0.65561	Myosin head, motor domain (3);	0.000000	0.41097	U	0.000953	D	0.88897	0.6562	H	0.94306	3.52	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.92115	0.5699	10	0.87932	D	0	.	18.542	0.91031	0.0:1.0:0.0:0.0	.	252	Q9Y623	MYH4_HUMAN	T	252	ENSP00000255381:R252T	ENSP00000255381:R252T	R	-	2	0	MYH4	10307430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.746000	0.85057	2.436000	0.82500	0.557000	0.71058	AGG		0.323	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		G	10366705	C	G	10366705	3	3	636	1	0	0	0	0	1	0	0	0	10039	681	24	4	5192	4	MYH4	17	10366705	Missense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08	447	10366705	70828505	37	34634			1	57		3	3	627	N	T_C	5.305859e-07
MYH4	4622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10366884	10366884	+	Missense_Mutation	SNP	T	T	A			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr17:10366884T>A	ENST00000255381.2	-	8	835	c.725A>T	c.(724-726)gAc>gTc	p.D242V	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	242	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.D242V(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGAGGAGTTGTCATTCCTCAC	0.438																																																1	Substitution - Missense(1)	kidney(1)											116	111	113					17																	10366884		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.725A>T	17.37:g.10366884T>A	ENSP00000255381:p.Asp242Val			Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133712	0.77662	.	.	ENSG00000141048	ENST00000255381	D	0.89123	-2.47	4.96	4.96	0.65561	Myosin head, motor domain (3);	0.000000	0.39020	U	0.001482	D	0.97402	0.9150	H	0.99909	4.93	0.80722	D	1	D	0.53151	0.958	D	0.72625	0.978	D	0.98945	1.0792	10	0.87932	D	0	.	14.8998	0.70670	0.0:0.0:0.0:1.0	.	242	Q9Y623	MYH4_HUMAN	V	242	ENSP00000255381:D242V	ENSP00000255381:D242V	D	-	2	0	MYH4	10307609	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.966000	0.87956	1.971000	0.57363	0.455000	0.32223	GAC		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		A	10366884	T	A	10366884	3	1	636	1	0	0	0	0	1	0	0	0	10039	1667	58	5	5226	5	MYH4	17	10366884	Missense_Mutation	SNP	T	TCGA-EU-5907-01A-11D-1669-08	179	10366884	70828326	38	34635			1	57		3	3	627	N	T_C	5.305859e-07
KRT23	25984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39086293	39086293	+	Nonsense_Mutation	SNP	G	G	A	rs370055839		TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr17:39086293G>A	ENST00000209718.3	-	4	959	c.535C>T	c.(535-537)Cga>Tga	p.R179*	KRT23_ENST00000436344.3_Nonsense_Mutation_p.R42*|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	179	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R179*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				AAGGTCCTTCGGAGGCCCTCG	0.458																																																1	Substitution - Nonsense(1)	kidney(1)						G	stop/ARG	0,4406		0,0,2203	224	178	194		535	3.7	1	17		194	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	KRT23	NM_015515.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		179/423	39086293	1,13005	2203	4300	6503	SO:0001587	stop_gained	25984			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.535C>T	17.37:g.39086293G>A	ENSP00000209718:p.Arg179*		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Nonsense_Mutation	SNP	ENST00000209718.3	37	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153670	0.78114	0.0	1.16E-4	ENSG00000108244	ENST00000209718;ENST00000436344	.	.	.	5.74	3.72	0.42706	.	0.000000	0.45361	D	0.000363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2982	0.73925	0.0:0.0:0.745:0.255	.	.	.	.	X	179;42	.	ENSP00000209718:R179X	R	-	1	2	KRT23	36339819	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	2.984000	0.49353	0.745000	0.32763	0.460000	0.39030	CGA		0.458	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			A	39086293	G	A	39086293	4	1	636	1	0	0	0	0	0	1	0	0	8462	1124	39	1	757	1	KRT23	17	39086293	Nonsense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08	28719409	39086293	42108917	39	34636											
NGFR	4804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	47587945	47587945	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr17:47587945C>A	ENST00000172229.3	+	4	865	c.740C>A	c.(739-741)aCc>aAc	p.T247N	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.T153N	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	247	Ser/Thr-rich.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.T247N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					ACCCGAGGCACCACCGACAAC	0.607																																																1	Substitution - Missense(1)	kidney(1)											111	101	104					17																	47587945		2203	4300	6503	SO:0001583	missense	4804			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.740C>A	17.37:g.47587945C>A	ENSP00000172229:p.Thr247Asn		B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	C	8.152	0.787673	0.16258	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.90261	-2.57;-2.64	4.85	4.85	0.62838	.	0.377733	0.28921	N	0.013707	D	0.83013	0.5162	N	0.16368	0.405	0.23546	N	0.997447	P	0.40000	0.698	B	0.37888	0.26	T	0.74867	-0.3518	10	0.27082	T	0.32	-43.6711	16.0977	0.81139	0.0:1.0:0.0:0.0	.	247	P08138	TNR16_HUMAN	N	247;153	ENSP00000172229:T247N;ENSP00000421731:T153N	ENSP00000172229:T247N	T	+	2	0	NGFR	44942944	0.008000	0.16893	0.954000	0.39281	0.871000	0.50021	0.684000	0.25364	2.397000	0.81536	0.650000	0.86243	ACC		0.607	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			A	47587945	C	A	47587945	3	1	636	1	0	0	0	0	1	0	0	0	10398	507	18	4	754	4	NGFR	17	47587945	Missense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08	8501652	47587945	33607265	40	34637											
ABCA5	23461	broad.mit.edu;hgsc.bcm.edu	37	17	67280186	67280186	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr17:67280186G>C	ENST00000392676.3	-	18	2364	c.2300C>G	c.(2299-2301)tCa>tGa	p.S767*	ABCA5_ENST00000588877.1_Nonsense_Mutation_p.S767*|ABCA5_ENST00000392677.2_Nonsense_Mutation_p.S767*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	767					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S767*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ACCCAAATTTGAATGACTGTC	0.299																																																1	Substitution - Nonsense(1)	kidney(1)											61	58	59					17																	67280186		2203	4300	6503	SO:0001587	stop_gained	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2300C>G	17.37:g.67280186G>C	ENSP00000376443:p.Ser767*		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Nonsense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	50	16.797406	0.99872	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.58	5.58	0.84498	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1719	0.93581	0.0:0.0:1.0:0.0	.	.	.	.	X	767	.	.	S	-	2	0	ABCA5	64791781	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.998000	0.76277	2.622000	0.88805	0.650000	0.86243	TCA		0.299	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		C	67280186	G	C	67280186	4	2	636	1	0	0	0	0	0	1	0	0	35	1294	45	4	2716	4	ABCA5	17	67280186	Nonsense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08	19692241	67280186	13915024	41	34638											
TMC8	147138	broad.mit.edu;hgsc.bcm.edu	37	17	76137117	76137117	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr17:76137117G>A	ENST00000318430.5	+	16	2479	c.2105G>A	c.(2104-2106)cGt>cAt	p.R702H	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.R479H	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	702					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)	p.R702H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCGGGACTGCGTTCCCCTTGC	0.756																																																1	Substitution - Missense(1)	kidney(1)											9	11	10					17																	76137117		2174	4260	6434	SO:0001583	missense	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.2105G>A	17.37:g.76137117G>A	ENSP00000325561:p.Arg702His		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741503	0.49151	.	.	ENSG00000167895	ENST00000318430	T	0.75477	-0.94	4.04	-3.25	0.05079	.	3.727870	0.00894	N	0.002268	T	0.59155	0.2173	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.32188	-0.9916	10	0.36615	T	0.2	0.4031	0.1294	0.00072	0.2687:0.1619:0.2416:0.3278	.	702	Q8IU68	TMC8_HUMAN	H	702	ENSP00000325561:R702H	ENSP00000325561:R702H	R	+	2	0	TMC8	73648712	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.516000	0.06282	-0.122000	0.11766	0.561000	0.74099	CGT		0.756	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			A	76137117	G	A	76137117	3	1	636	1	0	0	0	0	1	0	0	0	15996	1145	40	1	2163	1	TMC8	17	76137117	Missense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08	8856931	76137117	5058093	42	34639											
TK1	7083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76170949	76170960	+	In_Frame_Del	DEL	CCGGCAGGCTGG	CCGGCAGGCTGG	-	rs1065767|rs386352371	byFrequency	TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	CCGGCAGGCTGG	CCGGCAGGCTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr17:76170949_76170960delCCGGCAGGCTGG	ENST00000301634.7	-	7	823_834	c.585_596delCCAGCCTGCCGG	c.(583-597)ggccagcctgccggg>ggg	p.195_199GQPAG>G	TK1_ENST00000405273.1_In_Frame_Del_p.195_199GQPAG>G|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000590862.1_Intron|TK1_ENST00000588734.1_In_Frame_Del_p.228_232GQPAG>G	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	195					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	GTTGTCCGGCCCGGCAGGCTGGCCTGAGGCCT	0.618																																																0																																										SO:0001651	inframe_deletion	7083				CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.585_596delCCAGCCTGCCGG	17.37:g.76170949_76170960delCCGGCAGGCTGG	ENSP00000301634:p.Gly195_Ala198del		B2RC58|Q969V0|Q9UMG9	In_Frame_Del	DEL	ENST00000301634.7	37	CCDS11754.1																																																																																				0.618	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258		-	76170960	CCGGCAGGCTGG	-	76170949	7	5	636	1	0	1	0	1	0	0	0	0	15937	623	22	0	112	0	TK1	17	76170949	In_Frame_Del	DEL	CCGGCAGGCTGG	TCGA-EU-5907-01A-11D-1669-08	33832	76170949	5024261	43	34640											
IL12RB1	3594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18191685	18191685	+	Silent	SNP	C	C	T			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr19:18191685C>T	ENST00000600835.2	-	5	664	c.366G>A	c.(364-366)caG>caA	p.Q122Q	IL12RB1_ENST00000322153.7_Silent_p.Q122Q|IL12RB1_ENST00000593993.2_Silent_p.Q122Q			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	122	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)	p.Q122Q(2)		endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						ACTTCTCTGTCTGGTTCCTGG	0.597																																																2	Substitution - coding silent(2)	kidney(2)											93	86	88					19																	18191685		2203	4300	6503	SO:0001819	synonymous_variant	3594			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.366G>A	19.37:g.18191685C>T			A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	CCDS54232.1																																																																																				0.597	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			T	18191685	C	T	18191685	2	4	636	1	0	0	0	0	0	0	0	1	7628	912	32	2		2	IL12RB1	19	18191685	Silent	SNP	C	TCGA-EU-5907-01A-11D-1669-08		18191685	40937298	44	34641											
PRX	57716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40901528	40901528	+	Missense_Mutation	SNP	C	C	T	rs377457671		TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr19:40901528C>T	ENST00000324001.7	-	7	3001	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	911					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V911M(1)		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)			TCAATTTCCACGGCGGGCAGC	0.587																																																1	Substitution - Missense(1)	kidney(1)						C	,MET/VAL	0,4406		0,0,2203	55	65	62		,2731	1.8	0	19		62	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,911/1462	40901528	1,13005	2203	4300	6503	SO:0001583	missense	57716			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.2731G>A	19.37:g.40901528C>T	ENSP00000326018:p.Val911Met		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	3.809	-0.040145	0.07497	0.0	1.16E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01516	4.81	5.3	1.75	0.24633	.	1.789140	0.03368	N	0.198570	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	P	0.50710	0.938	B	0.37731	0.257	T	0.44982	-0.9292	10	0.48119	T	0.1	-2.7585	5.2098	0.15310	0.1425:0.3632:0.416:0.0783	.	911	Q9BXM0	PRAX_HUMAN	M	911	ENSP00000326018:V911M	ENSP00000326018:V911M	V	-	1	0	PRX	45593368	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.067000	0.11579	0.175000	0.19841	0.650000	0.86243	GTG		0.587	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		T	40901528	C	T	40901528	3	4	636	1	0	0	0	0	1	0	0	0	12647	536	19	1	1658	1	PRX	19	40901528	Missense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08	22709843	40901528	18227455	45	34642											
SLC8A2	6543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47969097	47969097	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr19:47969097C>G	ENST00000236877.6	-	2	959	c.564G>C	c.(562-564)gaG>gaC	p.E188D	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	188					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.E188D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCTTGCGGCTCTCGCCGGCTG	0.572																																																1	Substitution - Missense(1)	kidney(1)											66	47	53					19																	47969097		2203	4300	6503	SO:0001583	missense	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.564G>C	19.37:g.47969097C>G	ENSP00000236877:p.Glu188Asp		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340365	0.60963	.	.	ENSG00000118160	ENST00000391903;ENST00000236877	T	0.65178	-0.14	4.04	4.04	0.47022	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	M	0.88512	2.96	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.984	T	0.79761	-0.1667	10	0.66056	D	0.02	.	6.0397	0.19728	0.0:0.7885:0.0:0.2115	.	16;188	E9PGS7;Q9UPR5	.;NAC2_HUMAN	D	16;188	ENSP00000236877:E188D	ENSP00000236877:E188D	E	-	3	2	SLC8A2	52660909	0.038000	0.19896	1.000000	0.80357	0.993000	0.82548	0.464000	0.21988	2.098000	0.63641	0.462000	0.41574	GAG		0.572	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			G	47969097	C	G	47969097	3	3	636	1	0	0	0	0	1	0	0	0	14713	912	32	4	2237	4	SLC8A2	19	47969097	Missense_Mutation	SNP	C	TCGA-EU-5907-01A-11D-1669-08	7067569	47969097	11159886	46	34643											
EPB41L1	2036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34776292	34776292	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr20:34776292G>T	ENST00000338074.2	+	9	1058	c.897G>T	c.(895-897)atG>atT	p.M299I	EPB41L1_ENST00000373950.2_Missense_Mutation_p.M202I|EPB41L1_ENST00000202028.5_Missense_Mutation_p.M237I|EPB41L1_ENST00000441639.1_Missense_Mutation_p.M237I|EPB41L1_ENST00000373946.3_Missense_Mutation_p.M268I|EPB41L1_ENST00000373941.1_Missense_Mutation_p.M299I	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	299	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.M299I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TCGACATCATGTTAGGCGTTT	0.572																																																1	Substitution - Missense(1)	kidney(1)											148	137	141					20																	34776292		2203	4300	6503	SO:0001583	missense	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.897G>T	20.37:g.34776292G>T	ENSP00000337168:p.Met299Ile		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203386	0.95033	.	.	ENSG00000088367	ENST00000202028;ENST00000430276;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;T;D;D;D;D;D	0.86297	-2.1;-1.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.75	5.75	0.90469	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.90896	0.7139	L	0.48362	1.52	0.80722	D	1	P;D;P;D;B;B	0.58268	0.566;0.969;0.556;0.982;0.089;0.119	P;D;B;D;B;B	0.68943	0.545;0.959;0.118;0.961;0.062;0.098	D	0.88254	0.2918	9	0.27082	T	0.32	.	18.5116	0.90918	0.0:0.0:1.0:0.0	.	299;299;268;202;202;237	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	I	237;237;202;299;202;237;268;299;299	ENSP00000202028:M237I;ENSP00000404341:M237I;ENSP00000363061:M202I;ENSP00000399214:M237I;ENSP00000363057:M268I;ENSP00000337168:M299I;ENSP00000363052:M299I	ENSP00000202028:M237I	M	+	3	0	EPB41L1	34239706	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.869000	0.99810	2.721000	0.93114	0.561000	0.74099	ATG		0.572	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		T	34776292	G	T	34776292	3	4	636	1	0	0	0	0	1	0	0	0	5154	1377	48	4	927	4	EPB41L1	20	34776292	Missense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08		34776292	28249228	47	34644											
PIGT	51604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44045233	44045233	+	Silent	SNP	A	A	G			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr20:44045233A>G	ENST00000279036.6	+	2	344	c.264A>G	c.(262-264)tcA>tcG	p.S88S	PIGT_ENST00000545755.1_Intron|PIGT_ENST00000372689.5_Silent_p.S88S|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000543458.2_Silent_p.S88S|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000279035.9_Intron	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	88					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.S88S(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TGCACCTGTCATTCACACAAG	0.577																																																2	Substitution - coding silent(2)	kidney(2)											43	42	42					20																	44045233		2203	4300	6503	SO:0001819	synonymous_variant	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.264A>G	20.37:g.44045233A>G			B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	CCDS13353.1																																																																																				0.577	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		G	44045233	A	G	44045233	2	3	636	1	0	0	0	0	0	0	0	1	11901	204	8	3		3	PIGT	20	44045233	Silent	SNP	A	TCGA-EU-5907-01A-11D-1669-08	9268941	44045233	18980287	48	34645											
PIGT	51604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44045300	44045300	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr20:44045300G>A	ENST00000279036.6	+	2	411	c.331G>A	c.(331-333)Gag>Aag	p.E111K	PIGT_ENST00000545755.1_Intron|PIGT_ENST00000372689.5_Missense_Mutation_p.E111K|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000543458.2_Intron|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000279035.9_Intron	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	111					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.E111K(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				ATCAGGTGCAGAGCTGTGGGT	0.577																																																2	Substitution - Missense(2)	kidney(2)											54	45	48					20																	44045300		2203	4300	6503	SO:0001583	missense	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.331G>A	20.37:g.44045300G>A	ENSP00000279036:p.Glu111Lys		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	G	37	6.123245	0.97305	.	.	ENSG00000124155	ENST00000372689;ENST00000279036	T;T	0.57595	0.39;0.39	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.91872	3.25	0.80722	D	1	D;D	0.69078	0.997;0.989	D;P	0.71414	0.973;0.824	T	0.82829	-0.0264	10	0.72032	D	0.01	-28.5787	19.3629	0.94448	0.0:0.0:1.0:0.0	.	111;111	B7Z7C5;Q969N2	.;PIGT_HUMAN	K	111	ENSP00000361774:E111K;ENSP00000279036:E111K	ENSP00000279036:E111K	E	+	1	0	PIGT	43478714	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.455000	0.97625	2.817000	0.96982	0.563000	0.77884	GAG		0.577	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		A	44045300	G	A	44045300	3	1	636	1	0	0	0	0	1	0	0	0	11901	943	33	2	337	2	PIGT	20	44045300	Missense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08	67	44045300	18980220	49	34646											
B4GALT5	9334	broad.mit.edu	37	20	48330184	48330184	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr20:48330184A>T	ENST00000371711.4	-	1	231	c.44T>A	c.(43-45)cTg>cAg	p.L15Q		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	15					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.L15Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CGCGGCGAGCAGCGAGCGGCG	0.721																																																1	Substitution - Missense(1)	kidney(1)											5	8	7					20																	48330184		2066	4150	6216	SO:0001583	missense	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.44T>A	20.37:g.48330184A>T	ENSP00000360776:p.Leu15Gln		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405520	0.42715	.	.	ENSG00000158470	ENST00000371711	T	0.47528	0.84	2.66	1.52	0.23074	.	0.400832	0.23539	U	0.047091	T	0.32255	0.0823	L	0.48642	1.525	0.38374	D	0.944945	P	0.48694	0.914	B	0.36030	0.216	T	0.15065	-1.0450	10	0.49607	T	0.09	-0.0625	6.6252	0.22826	0.8706:0.0:0.1294:0.0	.	15	O43286	B4GT5_HUMAN	Q	15	ENSP00000360776:L15Q	ENSP00000360776:L15Q	L	-	2	0	B4GALT5	47763591	1.000000	0.71417	0.811000	0.32455	0.742000	0.42306	3.248000	0.51430	0.161000	0.19458	0.156000	0.16432	CTG		0.721	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		T	48330184	A	T	48330184	3	4	636	1	0	0	0	0	1	0	0	0	1274	188	7	5	1158	5	B4GALT5	20	48330184	Missense_Mutation	SNP	A	TCGA-EU-5907-01A-11D-1669-08	4284884	48330184	14695336	50	34647											
EIF3L	51386	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38274117	38274117	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5907-01A-11D-1669-08	TCGA-EU-5907-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5fded36e-05ba-4cce-8303-738f5b04ad16	fbe54bba-5614-4f31-9139-0fa08b9d72bb	g.chr22:38274117G>T	ENST00000412331.2	+	11	2096	c.1514G>T	c.(1513-1515)gGt>gTt	p.G505V	EIF3L_ENST00000381683.6_Missense_Mutation_p.G457V|EIF3L_ENST00000406934.1_Missense_Mutation_p.G407V	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L									p.G505V(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGACCAGCGGTATCTCAGCC	0.522																																																1	Substitution - Missense(1)	kidney(1)											66	63	64					22																	38274117		2179	4239	6418	SO:0001583	missense	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1514G>T	22.37:g.38274117G>T	ENSP00000416892:p.Gly505Val			Missense_Mutation	SNP	ENST00000412331.2	37	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	g	16.49	3.138321	0.56936	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934;ENST00000450376	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.76076	0.3937	M	0.91300	3.195	0.80722	D	1	D;D;D;D	0.89917	0.992;0.991;1.0;1.0	D;D;D;D	0.79108	0.926;0.92;0.986;0.992	T	0.81784	-0.0774	10	0.62326	D	0.03	-18.4534	18.8132	0.92065	0.0:0.0:1.0:0.0	.	457;407;505;548	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	V	505;548;457;472;407;17	ENSP00000416892:G505V;ENSP00000371099:G457V;ENSP00000384634:G407V;ENSP00000412349:G17V	ENSP00000262832:G472V	G	+	2	0	EIF3L	36604063	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	9.824000	0.99380	2.497000	0.84241	0.443000	0.29094	GGT		0.522	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		T	38274117	G	T	38274117	3	4	636	1	0	0	0	0	1	0	0	0	5024	1261	44	4	1556	4	EIF3L	22	38274117	Missense_Mutation	SNP	G	TCGA-EU-5907-01A-11D-1669-08		38274117	13030449	51	34648											
RNF115	27246	hgsc.bcm.edu	37	1	145688091	145688091	+	Missense_Mutation	SNP	T	T	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr1:145688091T>A	ENST00000369291.5	+	9	990	c.786T>A	c.(784-786)caT>caA	p.H262Q		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						TGTTTCAGCATGACACATGTC	0.418																																																0													117	112	114					1																	145688091		2203	4300	6503	SO:0001583	missense	27246			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"RING-type (C3HC4) zinc fingers"	18154	protein-coding gene	gene with protein product			"zinc finger protein 364"	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.786T>A	chr1.hg19:g.145688091T>A	ENSP00000358297:p.His262Gln			Missense_Mutation	SNP	ENST00000369291.5	hg19	CCDS922.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.651541	0.67472	.	.	ENSG00000121848	ENST00000369291	T	0.41758	0.99	5.65	0.199	0.15175	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.35624	0.0938	L	0.38733	1.17	0.54753	D	0.999989	D	0.71674	0.998	D	0.69824	0.966	T	0.27971	-1.0058	10	0.72032	D	0.01	-5.7379	9.6735	0.40026	0.0:0.5176:0.0:0.4824	.	262	Q9Y4L5	RN115_HUMAN	Q	262	ENSP00000358297:H262Q	ENSP00000358297:H262Q	H	+	3	2	RNF115	144399448	0.949000	0.32298	0.997000	0.53966	0.972000	0.66771	-0.007000	0.12810	-0.112000	0.11979	0.533000	0.62120	CAT		0.418	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		A	145688091	T	A	145688091	3	1	637	1	0	0	0	0	1	0	0	0	13436	1461	51	5	820	5	RNF115	1	145688091	Missense_Mutation	SNP	T	TCGA-EV-5901-01A-11D-1589-08		145688091	103562530	1	34649											
ARHGAP30	257106	hgsc.bcm.edu	37	1	161021130	161021130	+	Missense_Mutation	SNP	C	C	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr1:161021130C>A	ENST00000368013.3	-	10	1714	c.1394G>T	c.(1393-1395)gGc>gTc	p.G465V	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.G465V|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G288V	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	465					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			aaggccagggccagggccagg	0.612																																																0													29	31	30					1																	161021130		2203	4298	6501	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1394G>T	chr1.hg19:g.161021130C>A	ENSP00000356992:p.Gly465Val		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	hg19	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633427	0.47049	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.48201	2.6;2.35;0.82	3.83	3.83	0.44106	.	0.323164	0.22031	N	0.065593	T	0.37461	0.1004	L	0.27053	0.805	0.49389	D	0.999786	B;D	0.61697	0.354;0.99	B;P	0.57152	0.074;0.814	T	0.37407	-0.9707	10	0.72032	D	0.01	.	11.4473	0.50131	0.0:1.0:0.0:0.0	.	465;465	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	V	465;465;317;288	ENSP00000356995:G465V;ENSP00000356992:G465V;ENSP00000356994:G288V	ENSP00000356992:G465V	G	-	2	0	ARHGAP30	159287754	0.992000	0.36948	0.997000	0.53966	0.998000	0.95712	3.749000	0.55150	2.131000	0.65755	0.555000	0.69702	GGC		0.612	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		A	161021130	C	A	161021130	3	1	637	1	0	0	0	0	1	0	0	0	879	739	26	4	1923	4	ARHGAP30	1	161021130	Missense_Mutation	SNP	C	TCGA-EV-5901-01A-11D-1589-08	15333039	161021130	88229491	2	34650											
VPS54	51542	hgsc.bcm.edu	37	2	64199372	64199372	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr2:64199372T>A	ENST00000272322.4	-	4	539	c.385A>T	c.(385-387)Aag>Tag	p.K129*	VPS54_ENST00000409558.4_Nonsense_Mutation_p.K117*|VPS54_ENST00000354504.3_Nonsense_Mutation_p.K12*			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	129					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TCATGAATCTTCTCTCTCTAA	0.303																																																0													69	67	68					2																	64199372		2202	4292	6494	SO:0001587	stop_gained	51542			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.385A>T	chr2.hg19:g.64199372T>A	ENSP00000272322:p.Lys129*		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Nonsense_Mutation	SNP	ENST00000272322.4	hg19	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	T	42	9.754681	0.99256	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	.	.	.	5.66	5.66	0.87406	.	0.089994	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8882	0.79269	0.0:0.0:0.0:1.0	.	.	.	.	X	12;129;117;117;129	.	ENSP00000272322:K129X	K	-	1	0	VPS54	64052876	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.116000	0.64661	2.166000	0.68216	0.454000	0.30748	AAG		0.303	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		A	64199372	T	A	64199372	4	1	637	1	0	0	0	0	0	1	0	0	17221	1792	62	5	2628	5	VPS54	2	64199372	Nonsense_Mutation	SNP	T	TCGA-EV-5901-01A-11D-1589-08		64199372	179000001	3	34651											
ARID5A	10865	hgsc.bcm.edu	37	2	97216937	97216937	+	Silent	SNP	G	G	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr2:97216937G>A	ENST00000357485.3	+	7	750	c.672G>A	c.(670-672)ggG>ggA	p.G224G	ARID5A_ENST00000454558.2_Silent_p.G156G	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	224					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TGGCCTCTGGGTCTTCTGTGT	0.602																																																0													56	61	60					2																	97216937		2203	4300	6503	SO:0001819	synonymous_variant	10865			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.672G>A	chr2.hg19:g.97216937G>A			Q6NX37	Silent	SNP	ENST00000357485.3	hg19	CCDS33251.1																																																																																				0.602	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		A	97216937	G	A	97216937	2	1	637	1	0	0	0	0	0	0	0	1	921	1248	44	2		2	ARID5A	2	97216937	Silent	SNP	G	TCGA-EV-5901-01A-11D-1589-08	33017565	97216937	145982436	4	34652											
CNNM4	26504	hgsc.bcm.edu	37	2	97427340	97427340	+	Missense_Mutation	SNP	C	C	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr2:97427340C>A	ENST00000377075.2	+	1	702	c.604C>A	c.(604-606)Ctc>Atc	p.L202I		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	202	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ATTTTCTGGCCTCAACCTCGG	0.587																																																0													85	92	89					2																	97427340		2203	4300	6503	SO:0001583	missense	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.604C>A	chr2.hg19:g.97427340C>A	ENSP00000366275:p.Leu202Ile		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	hg19	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	c	20.6	4.021298	0.75275	.	.	ENSG00000158158	ENST00000377075	D	0.89485	-2.52	4.85	4.85	0.62838	Domain of unknown function DUF21 (1);	0.077015	0.50627	D	0.000112	D	0.94925	0.8359	M	0.92122	3.275	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.95382	0.8474	10	0.87932	D	0	-12.6701	10.4274	0.44387	0.0:0.908:0.0:0.092	.	202	Q6P4Q7	CNNM4_HUMAN	I	202	ENSP00000366275:L202I	ENSP00000366275:L202I	L	+	1	0	CNNM4	96791067	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	3.112000	0.50368	2.234000	0.73211	0.556000	0.70494	CTC		0.587	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		A	97427340	C	A	97427340	3	1	637	1	0	0	0	0	1	0	0	0	3617	681	24	4	606	4	CNNM4	2	97427340	Missense_Mutation	SNP	C	TCGA-EV-5901-01A-11D-1589-08	210403	97427340	145772033	5	34653											
PRPF40A	55660	hgsc.bcm.edu	37	2	153532998	153532998	+	Missense_Mutation	SNP	T	T	C	rs372660010		TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr2:153532998T>C	ENST00000410080.1	-	10	1493	c.952A>G	c.(952-954)Acc>Gcc	p.T318A		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	345					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ATAGCAGGGGTACTAGTAAGT	0.378																																																0								T	ALA/THR	0,3770		0,0,1885	81	77	78		952	3.6	1	2		78	1,8221		0,1,4110	no	missense	PRPF40A	NM_017892.3	58	0,1,5995	CC,CT,TT		0.0122,0.0,0.0083	possibly-damaging	318/931	153532998	1,11991	1885	4111	5996	SO:0001583	missense	55660			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"formin-binding protein 3", "formin binding protein 3", "PRP40 pre-mRNA processing factor 40 homolog A (yeast)"	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.952A>G	chr2.hg19:g.153532998T>C	ENSP00000386458:p.Thr318Ala		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	hg19	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	T	4.743	0.138086	0.09083	0.0	1.22E-4	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961;ENST00000545856;ENST00000493468	T	0.30182	1.54	4.77	3.61	0.41365	.	0.488453	0.23416	N	0.048404	T	0.12732	0.0309	N	0.14661	0.345	0.34226	D	0.676017	B;B;B	0.30193	0.272;0.049;0.028	B;B;B	0.17722	0.019;0.015;0.016	T	0.20472	-1.0274	10	0.07813	T	0.8	-1.5293	7.4308	0.27126	0.0:0.1016:0.0:0.8984	.	345;327;318	O75400;O75400-3;E9PFS0	PR40A_HUMAN;.;.	A	318;327;214;265;345;320	ENSP00000386458:T318A	ENSP00000348770:T327A	T	-	1	0	PRPF40A	153241244	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.937000	0.28951	0.934000	0.37316	0.455000	0.32223	ACC		0.378	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		C	153532998	T	C	153532998	3	2	637	1	0	0	0	0	1	0	0	0	12576	1638	57	3	1908	3	PRPF40A	2	153532998	Missense_Mutation	SNP	T	TCGA-EV-5901-01A-11D-1589-08	56105658	153532998	89666375	6	34654											
PSMD6	9861	hgsc.bcm.edu	37	3	64004274	64004274	+	Splice_Site	SNP	C	C	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr3:64004274C>A	ENST00000295901.4	-	5	967		c.e5+1		RP11-245J9.4_ENST00000462717.1_RNA|RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000492933.1_Splice_Site|PSMD6_ENST00000482510.1_Splice_Site|PSMD6_ENST00000394431.2_Splice_Site	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6						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)|ATP catabolic process (GO:0006200)|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)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		CCTATCCTTACCTAATGATTG	0.388																																																0													78	71	73					3																	64004274		2203	4300	6503	SO:0001630	splice_region_variant	9861			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"Proteasome (prosome, macropain) subunits"	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.826+1G>T	chr3.hg19:g.64004274C>A			A8K2E0|E9PHI9|Q6UV22	Splice_Site	SNP	ENST00000295901.4	hg19	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577357	0.65878	.	.	ENSG00000163636	ENST00000295901;ENST00000480205;ENST00000492933;ENST00000394431;ENST00000482510	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSMD6	63979314	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	6.088000	0.71371	2.826000	0.97356	0.561000	0.74099	.		0.388	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814	Intron	A	64004274	C	A	64004274	5	1	637	1	0	0	0	0	0	0	1	0	12707	521	18	4	358	4	PSMD6	3	64004274	Splice_Site	SNP	C	TCGA-EV-5901-01A-11D-1589-08		64004274	134018156	7	34655											
EPHA6	285220	hgsc.bcm.edu	37	3	97202865	97202865	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr3:97202865A>C	ENST00000514100.1	+	7	580	c.338A>C	c.(337-339)gAt>gCt	p.D113A	EPHA6_ENST00000389672.5_Missense_Mutation_p.D721A|EPHA6_ENST00000502694.1_Missense_Mutation_p.D113A|EPHA6_ENST00000442602.2_Missense_Mutation_p.D87A	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	627	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AAGGAGATTGATCCCTCAAGA	0.383																																																0													99	101	100					3																	97202865		1865	4106	5971	SO:0001583	missense	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.338A>C	chr3.hg19:g.97202865A>C	ENSP00000421711:p.Asp113Ala		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	hg19		.	.	.	.	.	.	.	.	.	.	A	22.3	4.273321	0.80580	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.32	5.32	0.75619	Protein kinase-like domain (1);	.	.	.	.	T	0.54615	0.1869	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	0.999;0.962;1.0;1.0	P;P;D;D	0.85130	0.907;0.598;0.997;0.962	T	0.65438	-0.6168	9	0.87932	D	0	.	15.3417	0.74303	1.0:0.0:0.0:0.0	.	87;626;113;113	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	A	721;113;113;87	ENSP00000374323:D721A;ENSP00000421711:D113A;ENSP00000423950:D113A;ENSP00000403100:D87A	ENSP00000374323:D721A	D	+	2	0	EPHA6	98685555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.958000	0.93099	2.026000	0.59711	0.454000	0.30748	GAT		0.383	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		C	97202865	A	C	97202865	3	2	637	1	0	0	0	0	1	0	0	0	5173	333	12	5	2268	5	EPHA6	3	97202865	Missense_Mutation	SNP	A	TCGA-EV-5901-01A-11D-1589-08	33198591	97202865	100819565	8	34656											
CD86	942	hgsc.bcm.edu	37	3	121825262	121825263	+	Frame_Shift_Del	DEL	AT	AT	-	rs375108955		TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr3:121825262_121825263delAT	ENST00000330540.2	+	4	734_735	c.618_619delAT	c.(616-621)tcattcfs	p.F207fs	CD86_ENST00000493101.1_Frame_Shift_Del_p.F95fs|CD86_ENST00000469710.1_Frame_Shift_Del_p.F125fs|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Frame_Shift_Del_p.F201fs	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	207	Ig-like C2-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TGTCTGTTTCATTCCCTGATGT	0.391																																					GBM(67;1379 1389 36064 39806)											0																																										SO:0001589	frameshift_variant	942				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.618_619delAT	chr3.hg19:g.121825262_121825263delAT	ENSP00000332049:p.Phe207fs		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Frame_Shift_Del	DEL	ENST00000330540.2	hg19	CCDS3009.1																																																																																				0.391	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		-	121825263	AT	-	121825262	7	5	637	1	0	1	0	1	0	0	0	0	3045	204	8	0	632	0	CD86	3	121825262	Frame_Shift_Del	DEL	AT	TCGA-EV-5901-01A-11D-1589-08	24622397	121825262	76197168	9	34657											
CEP63	80254	hgsc.bcm.edu	37	3	134250746	134250746	+	Frame_Shift_Del	DEL	G	G	-	rs544307188		TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr3:134250746delG	ENST00000337090.3	+	4	455	c.282delG	c.(280-282)atgfs	p.M94fs	CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000383229.3_Frame_Shift_Del_p.M94fs|CEP63_ENST00000332047.5_Frame_Shift_Del_p.M94fs|CEP63_ENST00000513612.2_Frame_Shift_Del_p.M94fs|CEP63_ENST00000606977.1_Frame_Shift_Del_p.M94fs|CEP63_ENST00000354446.3_Frame_Shift_Del_p.M94fs			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	94					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGATGACCATGGAATATAAGC	0.353																																																0													171	168	169					3																	134250746		2203	4300	6503	SO:0001589	frameshift_variant	80254			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.282delG	chr3.hg19:g.134250746delG	ENSP00000336524:p.Met94fs		D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Frame_Shift_Del	DEL	ENST00000337090.3	hg19	CCDS3086.1																																																																																				0.353	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		-	134250746	G	-	134250746	7	5	637	1	0	1	0	1	0	0	0	0	3259	1348	47	0	292	0	CEP63	3	134250746	Frame_Shift_Del	DEL	G	TCGA-EV-5901-01A-11D-1589-08	12425484	134250746	63771684	10	34658											
PHC3	80012	hgsc.bcm.edu	37	3	169847187	169847187	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr3:169847187G>A	ENST00000494943.1	-	8	1105	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	PHC3_ENST00000467570.1_Missense_Mutation_p.P305L|PHC3_ENST00000495893.2_Missense_Mutation_p.P358L			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	346	Gln-rich.|Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GGATGGGGGTGGGTCTTGAGT	0.488																																																0													205	205	205					3																	169847187		2024	4175	6199	SO:0001583	missense	80012				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1037C>T	chr3.hg19:g.169847187G>A	ENSP00000420271:p.Pro346Leu		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.23	1.875524	0.33162	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931	T;T	0.32515	1.45;1.47	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	T	0.37046	0.0989	L	0.55481	1.735	0.80722	D	1	B;P;B;B	0.47302	0.008;0.893;0.0;0.0	B;P;B;B	0.44811	0.006;0.461;0.0;0.002	T	0.08046	-1.0741	10	0.35671	T	0.21	-10.2153	18.6641	0.91483	0.0:0.0:1.0:0.0	.	305;305;346;358	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	L	346;358;305;184	ENSP00000420271:P346L;ENSP00000420294:P358L	ENSP00000419089:P305L	P	-	2	0	PHC3	171329881	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.385000	0.66231	2.514000	0.84764	0.561000	0.74099	CCA		0.488	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		A	169847187	G	A	169847187	3	1	637	1	0	0	0	0	1	0	0	0	11820	1348	47	2	1946	2	PHC3	3	169847187	Missense_Mutation	SNP	G	TCGA-EV-5901-01A-11D-1589-08	35596441	169847187	28175243	11	34659											
PDGFRA	5156	hgsc.bcm.edu	37	4	55139834	55139834	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr4:55139834G>A	ENST00000257290.5	+	10	1826	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	499	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V499M(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GACCATCGCCGTGCGATGCCT	0.557			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	1	Substitution - Missense(1)	breast(1)											85	83	83					4																	55139834		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1495G>A	chr4.hg19:g.55139834G>A	ENSP00000257290:p.Val499Met		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	hg19	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863494	0.51482	.	.	ENSG00000134853	ENST00000257290	T	0.77750	-1.12	5.9	5.9	0.94986	Immunoglobulin-like fold (1);	0.000000	0.29529	U	0.011898	D	0.86401	0.5924	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.75020	0.985;0.882	D	0.86433	0.1762	10	0.56958	D	0.05	.	13.4661	0.61254	0.0709:0.0:0.9291:0.0	.	499;499	P16234-3;P16234	.;PGFRA_HUMAN	M	499	ENSP00000257290:V499M	ENSP00000257290:V499M	V	+	1	0	PDGFRA	54834591	1.000000	0.71417	0.136000	0.22124	0.003000	0.03518	6.915000	0.75770	2.788000	0.95919	0.650000	0.86243	GTG		0.557	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		A	55139834	G	A	55139834	3	1	637	1	0	0	0	0	1	0	0	0	11663	1145	40	1	1529	1	PDGFRA	4	55139834	Missense_Mutation	SNP	G	TCGA-EV-5901-01A-11D-1589-08		55139834	136014442	12	34660											
LPCAT1	79888	hgsc.bcm.edu	37	5	1488543	1488543	+	Silent	SNP	A	A	T			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr5:1488543A>T	ENST00000283415.3	-	5	762	c.630T>A	c.(628-630)acT>acA	p.T210T		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	210					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TGTTTGTACAAGTTCCTTCTG	0.323																																																0													87	90	89					5																	1488543		2203	4300	6503	SO:0001819	synonymous_variant	79888			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.630T>A	chr5.hg19:g.1488543A>T			Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	hg19	CCDS3864.1																																																																																				0.323	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		T	1488543	A	T	1488543	2	4	637	1	0	0	0	0	0	0	0	1	8912	59	3	5		5	LPCAT1	5	1488543	Silent	SNP	A	TCGA-EV-5901-01A-11D-1589-08		1488543	179426717	13	34661											
NSUN2	54888	hgsc.bcm.edu	37	5	6620280	6620280	+	Missense_Mutation	SNP	C	C	T			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr5:6620280C>T	ENST00000264670.6	-	7	1065	c.754G>A	c.(754-756)Gat>Aat	p.D252N	NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000539938.1_Missense_Mutation_p.D16N|NSUN2_ENST00000506139.1_Missense_Mutation_p.D217N	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	252					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCGTCCACATCTATCTGGAGC	0.493																																																0													108	105	106					5																	6620280		2203	4300	6503	SO:0001583	missense	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.754G>A	chr5.hg19:g.6620280C>T	ENSP00000264670:p.Asp252Asn		A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	hg19	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273421	0.23221	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.38560	1.16;2.97;1.13	6.02	6.02	0.97574	.	0.084604	0.85682	D	0.000000	T	0.20740	0.0499	N	0.02985	-0.445	0.51767	D	0.999935	B;B	0.15930	0.015;0.005	B;B	0.20384	0.022;0.029	T	0.18808	-1.0325	10	0.12766	T	0.61	-53.9111	14.6603	0.68865	0.0:0.9312:0.0:0.0688	.	217;252	B4DQW2;Q08J23	.;NSUN2_HUMAN	N	252;16;217	ENSP00000264670:D252N;ENSP00000444338:D16N;ENSP00000420957:D217N	ENSP00000264670:D252N	D	-	1	0	NSUN2	6673280	0.863000	0.29885	0.538000	0.28064	0.018000	0.09664	2.600000	0.46240	2.865000	0.98341	0.655000	0.94253	GAT		0.493	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		T	6620280	C	T	6620280	3	4	637	1	0	0	0	0	1	0	0	0	10680	913	32	2	1601	2	NSUN2	5	6620280	Missense_Mutation	SNP	C	TCGA-EV-5901-01A-11D-1589-08	5131737	6620280	174294980	14	34662											
VCAN	1462	hgsc.bcm.edu	37	5	82836813	82836813	+	Missense_Mutation	SNP	A	A	G			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr5:82836813A>G	ENST00000265077.3	+	8	8556	c.7991A>G	c.(7990-7992)gAt>gGt	p.D2664G	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D1677G|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2664	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGCCAACTAGATCACATGGGC	0.453																																																0													126	122	123					5																	82836813		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7991A>G	chr5.hg19:g.82836813A>G	ENSP00000265077:p.Asp2664Gly		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	2.766	-0.256719	0.05829	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.35605	1.3;1.3	6.04	2.03	0.26663	.	0.465278	0.21973	N	0.066435	T	0.30324	0.0761	L	0.53249	1.67	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.15484	0.013;0.006	T	0.19582	-1.0301	10	0.35671	T	0.21	.	9.0589	0.36423	0.7098:0.0:0.2902:0.0	.	1677;2664	P13611-2;P13611	.;CSPG2_HUMAN	G	2664;1677	ENSP00000265077:D2664G;ENSP00000340062:D1677G	ENSP00000265077:D2664G	D	+	2	0	VCAN	82872569	0.001000	0.12720	0.002000	0.10522	0.019000	0.09904	0.608000	0.24223	0.540000	0.28808	-0.375000	0.07067	GAT		0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		G	82836813	A	G	82836813	3	3	637	1	0	0	0	0	1	0	0	0	17143	333	12	3	8017	3	VCAN	5	82836813	Missense_Mutation	SNP	A	TCGA-EV-5901-01A-11D-1589-08	76216533	82836813	98078447	15	34663											
SLC22A5	6584	hgsc.bcm.edu	37	5	131729504	131729504	+	Splice_Site	SNP	G	G	A	rs386134226		TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr5:131729504G>A	ENST00000245407.3	+	9	1807		c.e9+1		SLC22A5_ENST00000435065.2_Splice_Site	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5						carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GAGTCAAAGGGTAAGAAGACC	0.542																																																0													200	186	191					5																	131729504		2203	4300	6503	SO:0001630	splice_region_variant	6584			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1586+1G>A	chr5.hg19:g.131729504G>A			A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Splice_Site	SNP	ENST00000245407.3	hg19	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828787	0.90955	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC22A5	131757403	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.442000	0.97566	2.941000	0.99782	0.655000	0.94253	.		0.542	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060	Intron	A	131729504	G	A	131729504	5	1	637	1	0	0	0	0	0	0	1	0	14463	1275	44	2	1621	2	SLC22A5	5	131729504	Splice_Site	SNP	G	TCGA-EV-5901-01A-11D-1589-08	48892691	131729504	49185756	16	34664											
DPYSL3	1809	hgsc.bcm.edu	37	5	146780335	146780335	+	Missense_Mutation	SNP	C	C	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr5:146780335C>A	ENST00000398514.3	-	10	1401	c.1030G>T	c.(1030-1032)Ggg>Tgg	p.G344W	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Missense_Mutation_p.G458W|CTB-108O6.2_ENST00000607270.1_RNA	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	344					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTCCTTCCCAATTGCTTTC	0.557																																																0													112	118	116					5																	146780335		2201	4300	6501	SO:0001583	missense	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1030G>T	chr5.hg19:g.146780335C>A	ENSP00000381526:p.Gly344Trp		B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	hg19	CCDS43381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.029428|5.029428	0.93518|0.93518	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000398514;ENST00000343218|ENST00000520473	D;D|.	0.91894|.	-2.93;-2.93|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88422|0.88422	0.6432|0.6432	H|H	0.96547|0.96547	3.84|3.84	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.91456|0.91456	0.5185|0.5185	10|5	0.87932|.	D|.	0|.	-11.5514|-11.5514	19.8184|19.8184	0.96581|0.96581	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	458;344|.	B3SXQ8;Q14195|.	.;DPYL3_HUMAN|.	W|L	344;458|42	ENSP00000381526:G344W;ENSP00000343690:G458W|.	ENSP00000343690:G458W|.	G|W	-|-	1|2	0|0	DPYSL3|DPYSL3	146760528|146760528	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.967000|0.967000	0.64934|0.64934	7.694000|7.694000	0.84235|0.84235	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.557	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		A	146780335	C	A	146780335	3	1	637	1	0	0	0	0	1	0	0	0	4750	594	21	4	702	4	DPYSL3	5	146780335	Missense_Mutation	SNP	C	TCGA-EV-5901-01A-11D-1589-08	15050831	146780335	34134925	17	34665											
PPP1R10	5514	hgsc.bcm.edu	37	6	30577691	30577691	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr6:30577691G>T	ENST00000376511.2	-	3	583	c.31C>A	c.(31-33)Ctt>Att	p.L11I	PPP1R10_ENST00000484449.1_5'Flank	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	11	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCCTTGAGAAGTTCTTTGGGG	0.468																																																0													112	107	109					6																	30577691		2203	4300	6503	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.31C>A	chr6.hg19:g.30577691G>T	ENSP00000365694:p.Leu11Ile		O00405	Missense_Mutation	SNP	ENST00000376511.2	hg19	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785297	0.70337	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.54675	0.56	5.65	5.65	0.86999	.	0.119294	0.64402	D	0.000018	T	0.33876	0.0878	L	0.37850	1.14	0.43399	D	0.995525	B	0.30236	0.274	B	0.26416	0.069	T	0.21008	-1.0258	10	0.52906	T	0.07	-18.5396	18.8591	0.92265	0.0:0.0:1.0:0.0	.	11	Q96QC0	PP1RA_HUMAN	I	11	ENSP00000365694:L11I	ENSP00000365694:L11I	L	-	1	0	PPP1R10	30685670	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.210000	0.65214	2.825000	0.97269	0.655000	0.94253	CTT		0.468	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		T	30577691	G	T	30577691	3	4	637	1	0	0	0	0	1	0	0	0	12357	1029	36	4	2863	4	PPP1R10	6	30577691	Missense_Mutation	SNP	G	TCGA-EV-5901-01A-11D-1589-08		30577691	140537376	18	34666											
CCDC129	223075	hgsc.bcm.edu	37	7	31683522	31683527	+	In_Frame_Del	DEL	GACTTT	GACTTT	-			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	GACTTT	GACTTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr7:31683522_31683527delGACTTT	ENST00000407970.3	+	11	2576_2581	c.2538_2543delGACTTT	c.(2536-2544)acgactttg>acg	p.TL847del	CCDC129_ENST00000319386.3_In_Frame_Del_p.TL699del|CCDC129_ENST00000409210.1_In_Frame_Del_p.TL755del|CCDC129_ENST00000451887.2_In_Frame_Del_p.TL873del	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	847										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGTTCATGACGACTTTGAAAGCCCTT	0.549																																																0																																										SO:0001651	inframe_deletion	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2538_2543delGACTTT	chr7.hg19:g.31683522_31683527delGACTTT	ENSP00000384416:p.Thr847_Leu848del		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	In_Frame_Del	DEL	ENST00000407970.3	hg19	CCDS5435.2																																																																																				0.549	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		-	31683527	GACTTT	-	31683522	7	5	637	1	0	1	0	1	0	0	0	0	2766	1045	37	0	2576	0	CCDC129	7	31683522	In_Frame_Del	DEL	GACTTT	TCGA-EV-5901-01A-11D-1589-08		31683522	127455141	19	34667											
URGCP	55665	hgsc.bcm.edu	37	7	43918184	43918184	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr7:43918184A>C	ENST00000453200.1	-	6	1371	c.878T>G	c.(877-879)tTc>tGc	p.F293C	URGCP_ENST00000336086.6_Missense_Mutation_p.F250C|URGCP_ENST00000402306.3_Missense_Mutation_p.F284C|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.F250C|URGCP_ENST00000443736.1_Missense_Mutation_p.F250C|URGCP_ENST00000447717.3_Missense_Mutation_p.F250C			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	293					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGATGCCAGAAGCAGTCCCA	0.602																																																0													43	47	45					7																	43918184		1981	4149	6130	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.878T>G	chr7.hg19:g.43918184A>C	ENSP00000396918:p.Phe293Cys		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	hg19	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914953	0.72983	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.43688	1.02;1.02;0.95;1.02;0.94;1.02	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.85945	2.785	0.49483	D	0.999796	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73665	-0.3911	10	0.87932	D	0	-32.908	13.5869	0.61937	1.0:0.0:0.0:0.0	.	284;293	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	C	250;250;284;250;293;250	ENSP00000223341:F250C;ENSP00000336872:F250C;ENSP00000384955:F284C;ENSP00000392136:F250C;ENSP00000396918:F293C;ENSP00000402803:F250C	ENSP00000223341:F250C	F	-	2	0	URGCP	43884709	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.761000	0.91691	2.104000	0.64026	0.402000	0.26972	TTC		0.602	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		C	43918184	A	C	43918184	3	2	637	1	0	0	0	0	1	0	0	0	17031	246	9	5	1921	5	URGCP	7	43918184	Missense_Mutation	SNP	A	TCGA-EV-5901-01A-11D-1589-08	12234662	43918184	115220479	20	34668											
BAZ1B	9031	hgsc.bcm.edu	37	7	72907199	72907199	+	Silent	SNP	T	T	C			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr7:72907199T>C	ENST00000339594.4	-	5	962	c.624A>G	c.(622-624)ggA>ggG	p.G208G	BAZ1B_ENST00000404251.1_Silent_p.G208G	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	208	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATTTCCTTTCTCCTTTTTTTA	0.328																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											0													129	125	127					7																	72907199		2203	4299	6502	SO:0001819	synonymous_variant	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.624A>G	chr7.hg19:g.72907199T>C			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	hg19	CCDS5549.1																																																																																				0.328	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		C	72907199	T	C	72907199	2	2	637	1	0	0	0	0	0	0	0	1	1330	1538	54	3		3	BAZ1B	7	72907199	Silent	SNP	T	TCGA-EV-5901-01A-11D-1589-08	28989015	72907199	86231464	21	34669											
DNAJC2	27000	hgsc.bcm.edu	37	7	102963052	102963053	+	Nonsense_Mutation	DNP	AT	AT	TA			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	A|T	A|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr7:102963052_102963053AT>TA	ENST00000379263.3	-	9	1088_1089	c.838_839AT>TA	c.(838-840)ATa>TAa	p.I280*	DNAJC2_ENST00000249270.7_Nonsense_Mutation_p.I280*|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	280					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GAACTTTTTTATCCTTGGATCA	0.337																																																0																																										SO:0001587	stop_gained	27000			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.838_839delinsTA	chr7.hg19:g.102963052_102963053delinsTA	ENSP00000368565:p.Ile280*		A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	hg19	CCDS43628.1																																																																																				0.337	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			TA	102963053	AT	TA	102963052	4	4	637	1	0	0	0	0	0	1	0	0	4641	449	16	5	1062	5	DNAJC2	7	102963052	Nonsense_Mutation	DNP	AT	TCGA-EV-5901-01A-11D-1589-08	30055853	102963052	56175611	22	34670											
PLEC	5339	hgsc.bcm.edu	37	8	144997708	144997708	+	Missense_Mutation	SNP	T	T	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr8:144997708T>A	ENST00000322810.4	-	31	6969	c.6800A>T	c.(6799-6801)cAg>cTg	p.Q2267L	PLEC_ENST00000354589.3_Missense_Mutation_p.Q2130L|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2098L|PLEC_ENST00000357649.2_Missense_Mutation_p.Q2134L|PLEC_ENST00000527096.1_Missense_Mutation_p.Q2153L|PLEC_ENST00000354958.2_Missense_Mutation_p.Q2108L|PLEC_ENST00000436759.2_Missense_Mutation_p.Q2157L|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2130L|PLEC_ENST00000356346.3_Missense_Mutation_p.Q2116L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2267	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCCTGTGCCTGAGCCCGGGC	0.741																																																0													8	10	10					8																	144997708		1949	4030	5979	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6800A>T	chr8.hg19:g.144997708T>A	ENSP00000323856:p.Gln2267Leu		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	4.904	0.167918	0.09339	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78816	-1.17;-1.17;-1.2;-1.21;-1.14;-1.17;-1.17;-1.14;-1.17	4.98	3.77	0.43336	.	0.288111	0.26875	U	0.022050	T	0.62684	0.2448	N	0.16790	0.44	0.32967	D	0.521856	B;B;B;B;B;B;B;B	0.13594	0.008;0.008;0.008;0.005;0.008;0.008;0.008;0.008	B;B;B;B;B;B;B;B	0.12156	0.007;0.007;0.007;0.003;0.007;0.007;0.007;0.007	T	0.64935	-0.6290	10	0.66056	D	0.02	.	10.4644	0.44598	0.1462:0.0:0.0:0.8538	.	2157;2116;2108;2267;2098;2130;2134;2130	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	2130;2134;2130;2098;2267;2108;2116;2157;2153	ENSP00000344848:Q2130L;ENSP00000350277:Q2134L;ENSP00000346602:Q2130L;ENSP00000381756:Q2098L;ENSP00000323856:Q2267L;ENSP00000347044:Q2108L;ENSP00000348702:Q2116L;ENSP00000388180:Q2157L;ENSP00000434583:Q2153L	ENSP00000323856:Q2267L	Q	-	2	0	PLEC	145069696	0.350000	0.24878	0.725000	0.30721	0.062000	0.15995	1.232000	0.32636	0.690000	0.31570	0.368000	0.22195	CAG		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144997708	T	A	144997708	3	1	637	1	0	0	0	0	1	0	0	0	12054	1580	55	5	7262	5	PLEC	8	144997708	Missense_Mutation	SNP	T	TCGA-EV-5901-01A-11D-1589-08		144997708	1366314	23	34671											
ABCA2	20	hgsc.bcm.edu	37	9	139908396	139908396	+	Silent	SNP	G	G	C			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr9:139908396G>C	ENST00000371605.3	-	27	4479	c.4332C>G	c.(4330-4332)gtC>gtG	p.V1444V	ABCA2_ENST00000341511.6_Silent_p.V1445V|ABCA2_ENST00000265662.5_Silent_p.V1445V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1444					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGAAGCGTTTGACCAGCAGCC	0.672																																																0													44	56	52					9																	139908396		2147	4225	6372	SO:0001819	synonymous_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4332C>G	chr9.hg19:g.139908396G>C			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	hg19																																																																																					0.672	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		C	139908396	G	C	139908396	2	2	637	1	0	0	0	0	0	0	0	1	32	1277	45	4		4	ABCA2	9	139908396	Silent	SNP	G	TCGA-EV-5901-01A-11D-1589-08		139908396	1305035	24	34672											
ANK3	288	hgsc.bcm.edu	37	10	61836183	61836183	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr10:61836183T>C	ENST00000280772.2	-	37	4647	c.4456A>G	c.(4456-4458)Aga>Gga	p.R1486G	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1486					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGGAGGGATCTTGTTGCTCCT	0.418																																																0													86	86	86					10																	61836183		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4456A>G	chr10.hg19:g.61836183T>C	ENSP00000280772:p.Arg1486Gly		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410662	0.62399	.	.	ENSG00000151150	ENST00000280772	T	0.70045	-0.45	5.69	5.69	0.88448	.	0.000000	0.46145	D	0.000309	T	0.71484	0.3345	L	0.57536	1.79	0.80722	D	1	D	0.56521	0.976	P	0.50109	0.631	T	0.74763	-0.3555	10	0.59425	D	0.04	.	15.9352	0.79698	0.0:0.0:0.0:1.0	.	1486	Q12955	ANK3_HUMAN	G	1486	ENSP00000280772:R1486G	ENSP00000280772:R1486G	R	-	1	2	ANK3	61506189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.167000	0.68274	0.477000	0.44152	AGA		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		C	61836183	T	C	61836183	3	2	637	1	0	0	0	0	1	0	0	0	622	1617	56	3	9018	3	ANK3	10	61836183	Missense_Mutation	SNP	T	TCGA-EV-5901-01A-11D-1589-08		61836183	73698564	25	34673											
ZMYND17	118490	hgsc.bcm.edu	37	10	75185676	75185676	+	Missense_Mutation	SNP	C	C	T	rs143815503	byFrequency	TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr10:75185676C>T	ENST00000372912.1	-	4	964	c.962G>A	c.(961-963)gGc>gAc	p.G321D	MSS51_ENST00000299432.2_Missense_Mutation_p.G321D|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	321					social behavior (GO:0035176)		metal ion binding (GO:0046872)										CTGAATTGTGCCAGGTTCCAG	0.547																																																0													76	70	72					10																	75185676		2203	4300	6503	SO:0001583	missense	118490			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"Zinc fingers, MYND-type"	21000	protein-coding gene	gene with protein product		614773	"zinc finger, MYND-type containing 17", "MSS51 mitochondrial translational activator homolog (S. cerevisiae)"	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.962G>A	chr10.hg19:g.75185676C>T	ENSP00000362003:p.Gly321Asp		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	hg19	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004490	0.74932	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.47869	0.83;0.83	5.64	3.73	0.42828	.	0.228496	0.46758	D	0.000274	T	0.41858	0.1177	L	0.59436	1.845	0.41812	D	0.989971	B;B	0.27140	0.169;0.027	B;B	0.28553	0.091;0.018	T	0.34601	-0.9822	10	0.32370	T	0.25	-6.4632	9.5419	0.39257	0.0:0.7782:0.143:0.0788	.	100;321	Q4VC12-2;Q4VC12	.;ZMY17_HUMAN	D	321	ENSP00000299432:G321D;ENSP00000362003:G321D	ENSP00000299432:G321D	G	-	2	0	ZMYND17	74855682	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	2.882000	0.48546	1.627000	0.50400	0.650000	0.86243	GGC		0.547	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		T	75185676	C	T	75185676	3	4	637	1	0	0	0	0	1	0	0	0	17714	739	26	2	432	2	ZMYND17	10	75185676	Missense_Mutation	SNP	C	TCGA-EV-5901-01A-11D-1589-08	13349493	75185676	60349071	26	34674											
GUCY2C	2984	hgsc.bcm.edu	37	12	14796597	14796597	+	Missense_Mutation	SNP	C	C	T			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr12:14796597C>T	ENST00000261170.3	-	17	1977	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGATTTCAGACGACCATGGAC	0.398																																																0													162	153	156					12																	14796597		2203	4300	6503	SO:0001583	missense	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1841G>A	chr12.hg19:g.14796597C>T	ENSP00000261170:p.Arg614His		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	hg19	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110733	0.77210	.	.	ENSG00000070019	ENST00000261170	T	0.61980	0.06	5.47	5.47	0.80525	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	L	0.28458	0.855	0.80722	D	1	P	0.38767	0.646	B	0.39562	0.303	T	0.59862	-0.7374	10	0.54805	T	0.06	.	19.3191	0.94231	0.0:1.0:0.0:0.0	.	614	P25092	GUC2C_HUMAN	H	614	ENSP00000261170:R614H	ENSP00000261170:R614H	R	-	2	0	GUCY2C	14687864	1.000000	0.71417	0.800000	0.32199	0.988000	0.76386	4.932000	0.63476	2.549000	0.85964	0.650000	0.86243	CGT		0.398	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			T	14796597	C	T	14796597	3	4	637	1	0	0	0	0	1	0	0	0	6898	536	19	1	1424	1	GUCY2C	12	14796597	Missense_Mutation	SNP	C	TCGA-EV-5901-01A-11D-1589-08		14796597	119055298	27	34675											
PRKAG1	5571	hgsc.bcm.edu	37	12	49396719	49396719	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr12:49396719T>C	ENST00000548065.1	-	12	1415	c.959A>G	c.(958-960)cAg>cGg	p.Q320R	PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q236R|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q329R|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q269R|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q288R			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	320	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	CACCAGGGCCTGCAGGATGTC	0.547																																																0													126	96	106					12																	49396719		2203	4300	6503	SO:0001583	missense	5571			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.959A>G	chr12.hg19:g.49396719T>C	ENSP00000447433:p.Gln320Arg		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	hg19	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955618	0.34471	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770	D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.18	5.18	0.71444	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	T	0.82056	0.4954	N	0.13371	0.34	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.20577	0.03;0.028	T	0.76602	-0.2899	10	0.16420	T	0.52	-6.3299	14.1483	0.65364	0.0:0.0:0.0:1.0	.	329;320	Q8N7V9;P54619	.;AAKG1_HUMAN	R	236;269;329;320;288;240	ENSP00000378599:Q236R;ENSP00000448873:Q269R;ENSP00000323867:Q329R;ENSP00000447433:Q320R;ENSP00000448972:Q288R;ENSP00000449121:Q240R	ENSP00000323867:Q329R	Q	-	2	0	PRKAG1	47682986	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.789000	0.85783	2.179000	0.69175	0.533000	0.62120	CAG		0.547	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		C	49396719	T	C	49396719	3	2	637	1	0	0	0	0	1	0	0	0	12505	1580	55	3	40	3	PRKAG1	12	49396719	Missense_Mutation	SNP	T	TCGA-EV-5901-01A-11D-1589-08	34600122	49396719	84455176	28	34676											
KDM2B	84678	hgsc.bcm.edu	37	12	121947832	121947832	+	Silent	SNP	C	C	T			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr12:121947832C>T	ENST00000377071.4	-	11	1257	c.1185G>A	c.(1183-1185)agG>agA	p.R395R	KDM2B_ENST00000538046.2_Silent_p.R305R|KDM2B_ENST00000377069.4_Silent_p.R364R|KDM2B_ENST00000536437.1_Silent_p.R278R|KDM2B_ENST00000542973.1_5'Flank	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	395					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGCTGGGCTTCCTCGGGGCAT	0.577																																																0													34	38	37					12																	121947832		1945	4141	6086	SO:0001819	synonymous_variant	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1185G>A	chr12.hg19:g.121947832C>T			A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	hg19	CCDS41850.1																																																																																				0.577	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		T	121947832	C	T	121947832	2	4	637	1	0	0	0	0	0	0	0	1	8127	854	30	2		2	KDM2B	12	121947832	Silent	SNP	C	TCGA-EV-5901-01A-11D-1589-08	72551113	121947832	11904063	29	34677											
SACS	26278	hgsc.bcm.edu	37	13	23909472	23909472	+	Missense_Mutation	SNP	A	A	T			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr13:23909472A>T	ENST00000382292.3	-	9	8816	c.8543T>A	c.(8542-8544)tTc>tAc	p.F2848Y	SACS_ENST00000402364.1_Missense_Mutation_p.F2098Y|SACS_ENST00000382298.3_Missense_Mutation_p.F2848Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2848					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACCACGTGGGAAAAGAGTAAT	0.408																																																0													85	83	84					13																	23909472		2203	4299	6502	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8543T>A	chr13.hg19:g.23909472A>T	ENSP00000371729:p.Phe2848Tyr		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889154	0.91889	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87491	-2.1;-2.26;-2.1	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.88819	0.6540	L	0.40543	1.245	0.43588	D	0.995931	D	0.59357	0.985	P	0.59221	0.854	D	0.87733	0.2580	10	0.33940	T	0.23	.	15.58	0.76425	1.0:0.0:0.0:0.0	.	2848	Q9NZJ4	SACS_HUMAN	Y	2848;2098;2848	ENSP00000371729:F2848Y;ENSP00000385844:F2098Y;ENSP00000371735:F2848Y	ENSP00000371729:F2848Y	F	-	2	0	SACS	22807472	1.000000	0.71417	0.920000	0.36463	0.995000	0.86356	8.962000	0.93254	2.084000	0.62774	0.449000	0.29647	TTC		0.408	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		T	23909472	A	T	23909472	3	4	637	1	0	0	0	0	1	0	0	0	13810	246	9	5	5200	5	SACS	13	23909472	Missense_Mutation	SNP	A	TCGA-EV-5901-01A-11D-1589-08		23909472	91260406	30	34678											
B3GALTL	145173	hgsc.bcm.edu	37	13	31821210	31821210	+	Silent	SNP	A	A	G			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr13:31821210A>G	ENST00000343307.4	+	5	470	c.321A>G	c.(319-321)gcA>gcG	p.A107A		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	107					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AAGAAGGTGCATGGACCATAC	0.418																																																0													166	132	144					13																	31821210		2203	4300	6503	SO:0001819	synonymous_variant	145173			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"Beta 3-glycosyltransferases"	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.321A>G	chr13.hg19:g.31821210A>G			A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	ENST00000343307.4	hg19	CCDS9341.1																																																																																				0.418	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		G	31821210	A	G	31821210	2	3	637	1	0	0	0	0	0	0	0	1	1252	204	8	3		3	B3GALTL	13	31821210	Silent	SNP	A	TCGA-EV-5901-01A-11D-1589-08	7911738	31821210	83348668	31	34679											
RNASE11	122651	hgsc.bcm.edu	37	14	21052161	21052161	+	Missense_Mutation	SNP	C	C	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr14:21052161C>A	ENST00000610205.1	-	3	656	c.473G>T	c.(472-474)tGc>tTc	p.C158F	RNASE11_ENST00000553849.1_Missense_Mutation_p.C158F|RNASE11_ENST00000398008.2_Missense_Mutation_p.C158F|RNASE11_ENST00000398009.2_Missense_Mutation_p.C158F|RNASE11_ENST00000432835.2_Missense_Mutation_p.C158F|RNASE11_ENST00000555841.1_Missense_Mutation_p.C158F	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	158						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		AGTGAACTGGCACACTGTATT	0.488																																																0													103	87	92					14																	21052161		2203	4300	6503	SO:0001583	missense	122651			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"Ribonucleases, RNase A"	19269	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 6"	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.473G>T	chr14.hg19:g.21052161C>A	ENSP00000476537:p.Cys158Phe			Missense_Mutation	SNP	ENST00000610205.1	hg19	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	C	6.403	0.442547	0.12164	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105	D;D;D;D;D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06	3.7	1.83	0.25207	Ribonuclease A, domain (3);	0.198191	0.43579	N	0.000552	D	0.82999	0.5159	N	0.24115	0.695	0.09310	N	1	B	0.21225	0.053	B	0.22601	0.04	T	0.72887	-0.4156	10	0.56958	D	0.05	-25.0727	4.4612	0.11668	0.2199:0.6634:0.0:0.1167	.	158	Q8TAA1	RNS11_HUMAN	F	158	ENSP00000338288:C158F;ENSP00000451318:C158F;ENSP00000451563:C158F;ENSP00000381093:C158F;ENSP00000381092:C158F;ENSP00000395210:C158F;ENSP00000401398:C158F;ENSP00000451839:C158F;ENSP00000452412:C158F	ENSP00000338288:C158F	C	-	2	0	RNASE11	20122001	0.001000	0.12720	0.011000	0.14972	0.015000	0.08874	-0.122000	0.10627	0.521000	0.28445	0.511000	0.50034	TGC		0.488	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		A	21052161	C	A	21052161	3	1	637	1	0	0	0	0	1	0	0	0	13407	710	25	4	130	4	RNASE11	14	21052161	Missense_Mutation	SNP	C	TCGA-EV-5901-01A-11D-1589-08		21052161	86297379	32	34680											
ZFP106	64397	hgsc.bcm.edu	37	15	42717056	42717056	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr15:42717056A>C	ENST00000263805.4	-	13	5423	c.5097T>G	c.(5095-5097)caT>caG	p.H1699Q	ZNF106_ENST00000565660.1_5'Flank|ZNF106_ENST00000565380.1_Missense_Mutation_p.H927Q|RNU6-188P_ENST00000364207.1_RNA|ZNF106_ENST00000565611.1_Missense_Mutation_p.H884Q	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1699					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGGTTTTGCTATGGCCCTCCA	0.522																																																0													75	62	67					15																	42717056		2203	4299	6502	SO:0001583	missense	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5097T>G	chr15.hg19:g.42717056A>C	ENSP00000263805:p.His1699Gln		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	hg19	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779019	0.70107	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.81415	-1.49	5.44	-5.28	0.02755	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	M	0.86805	2.84	0.51233	D	0.999915	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.89321	0.3640	10	0.87932	D	0	-15.4983	17.6295	0.88103	0.1114:0.0:0.8886:0.0	.	927;1699;927	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	Q	1699;927	ENSP00000263805:H1699Q	ENSP00000263805:H1699Q	H	-	3	2	ZFP106	40504348	0.990000	0.36364	0.928000	0.36995	0.984000	0.73092	0.230000	0.17852	-0.844000	0.04184	-1.151000	0.01829	CAT		0.522	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		C	42717056	A	C	42717056	3	2	637	1	0	0	0	0	1	0	0	0	17642	446	16	5	582	5	ZFP106	15	42717056	Missense_Mutation	SNP	A	TCGA-EV-5901-01A-11D-1589-08		42717056	59814336	33	34681											
KIAA1199	57214	hgsc.bcm.edu	37	15	81230320	81230320	+	Splice_Site	SNP	G	G	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr15:81230320G>A	ENST00000394685.3	+	25	3826	c.3407G>A	c.(3406-3408)gGg>gAg	p.G1136E	KIAA1199_ENST00000356249.5_Splice_Site_p.G1136E|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Splice_Site_p.G1136E			Q8WUJ3	CEMIP_HUMAN		1136					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGGACTCAGGGTGAGCAGGC	0.547																																																0													38	33	35					15																	81230320		2203	4300	6503	SO:0001630	splice_region_variant	57214																														ENST00000394685.3:c.3407+1G>A	chr15.hg19:g.81230320G>A			Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	hg19	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227247	0.95173	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.50813	0.73;0.73;0.73	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72934	-0.4141	10	0.41790	T	0.15	-33.8466	19.3153	0.94211	0.0:0.0:1.0:0.0	.	1136	Q8WUJ3	K1199_HUMAN	E	1136	ENSP00000220244:G1136E;ENSP00000378177:G1136E;ENSP00000348583:G1136E	ENSP00000220244:G1136E	G	+	2	0	KIAA1199	79017375	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	9.063000	0.93927	2.559000	0.86315	0.655000	0.94253	GGG		0.547	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		Missense_Mutation	A	81230320	G	A	81230320	5	1	637	1	0	0	0	0	0	0	1	0	8215	1246	43	2	3497	2	KIAA1199	15	81230320	Splice_Site	SNP	G	TCGA-EV-5901-01A-11D-1589-08	38513264	81230320	21301072	34	34682											
BCMO1	53630	hgsc.bcm.edu	37	16	81314514	81314514	+	Missense_Mutation	SNP	C	C	G			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr16:81314514C>G	ENST00000258168.2	+	8	1615	c.1154C>G	c.(1153-1155)gCc>gGc	p.A385G	BCMO1_ENST00000425577.2_Missense_Mutation_p.A316G	NM_017429.2	NP_059125.2												p.A385V(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACAGCCACGGCCCTGAAGGAA	0.403																																																1	Substitution - Missense(1)	skin(1)											71	69	70					16																	81314514		2202	4300	6502	SO:0001583	missense	53630																														ENST00000258168.2:c.1154C>G	chr16.hg19:g.81314514C>G	ENSP00000258168:p.Ala385Gly			Missense_Mutation	SNP	ENST00000258168.2	hg19	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346163	0.61073	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95853	-3.83;-3.48	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98794	1.0737	10	0.62326	D	0.03	-38.9556	19.5968	0.95544	0.0:1.0:0.0:0.0	.	316;385	E7EM88;Q9HAY6	.;BCDO1_HUMAN	G	385;316	ENSP00000258168:A385G;ENSP00000400586:A316G	ENSP00000258168:A385G	A	+	2	0	BCMO1	79872015	1.000000	0.71417	0.995000	0.50966	0.039000	0.13416	5.343000	0.65976	2.793000	0.96121	0.655000	0.94253	GCC		0.403	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			G	81314514	C	G	81314514	3	3	637	1	0	0	0	0	1	0	0	0	1384	739	26	4	1184	4	BCMO1	16	81314514	Missense_Mutation	SNP	C	TCGA-EV-5901-01A-11D-1589-08		81314514	9040239	35	34683											
RAB3A	5864	hgsc.bcm.edu	37	19	18313494	18313494	+	Missense_Mutation	SNP	G	G	C			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr19:18313494G>C	ENST00000222256.4	-	2	235	c.57C>G	c.(55-57)ttC>ttG	p.F19L	AC068499.10_ENST00000594805.3_RNA|RAB3A_ENST00000464076.3_Intron|AC068499.10_ENST00000599416.2_RNA|AC068499.10_ENST00000596473.1_RNA	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	19					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						ACATGTAGTCGAAGTTCTGAT	0.582											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													257	217	230					19																	18313494		2203	4300	6503	SO:0001583	missense	5864				CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"RAB, member RAS oncogene"	9777	protein-coding gene	gene with protein product	"RAS-associated protein RAB3A"	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.57C>G	chr19.hg19:g.18313494G>C	ENSP00000222256:p.Phe19Leu	724	A8K0J4|Q9NYE1	Missense_Mutation	SNP	ENST00000222256.4	hg19	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017822	0.75161	.	.	ENSG00000105649	ENST00000222256	T	0.79141	-1.24	4.4	0.678	0.17969	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	N	0.25890	0.77	0.80722	D	1	D	0.65815	0.995	P	0.59889	0.865	T	0.70490	-0.4857	10	0.87932	D	0	-19.6435	5.4616	0.16619	0.5735:0.0:0.4265:0.0	.	19	P20336	RAB3A_HUMAN	L	19	ENSP00000222256:F19L	ENSP00000222256:F19L	F	-	3	2	RAB3A	18174494	0.677000	0.27577	1.000000	0.80357	0.984000	0.73092	-0.040000	0.12104	0.318000	0.23185	0.313000	0.20887	TTC		0.582	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		C	18313494	G	C	18313494	3	2	637	1	0	0	0	0	1	0	0	0	12937	1049	37	4	621	4	RAB3A	19	18313494	Missense_Mutation	SNP	G	TCGA-EV-5901-01A-11D-1589-08		18313494	40815489	36	34684											
CSNK2A1	1457	hgsc.bcm.edu	37	20	468205	468205	+	Missense_Mutation	SNP	C	C	T			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr20:468205C>T	ENST00000217244.3	-	12	1214	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R280Q|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R280Q|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.R144Q	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GCGTTCCCATCGCTTTCGAGA	0.502																																																0													85	76	80					20																	468205		2203	4300	6503	SO:0001583	missense	1457			M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.839G>A	chr20.hg19:g.468205C>T	ENSP00000217244:p.Arg280Gln		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	hg19	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233597	0.95207	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.43294	3.29;3.29;3.29;0.95	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	N	0.17594	0.5	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	T	0.51426	-0.8707	10	0.52906	T	0.07	-6.9053	17.9724	0.89117	0.0:1.0:0.0:0.0	.	280	P68400	CSK21_HUMAN	Q	280;280;280;280;144	ENSP00000383086:R280Q;ENSP00000339247:R280Q;ENSP00000217244:R280Q;ENSP00000383076:R144Q	ENSP00000217244:R280Q	R	-	2	0	CSNK2A1	416205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.601000	0.82783	2.713000	0.92767	0.585000	0.79938	CGA		0.502	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		T	468205	C	T	468205	3	4	637	1	0	0	0	0	1	0	0	0	3959	884	31	1	348	1	CSNK2A1	20	468205	Missense_Mutation	SNP	C	TCGA-EV-5901-01A-11D-1589-08		468205	62557315	37	34685											
HMOX1	3162	hgsc.bcm.edu	37	22	35779129	35779129	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr22:35779129G>T	ENST00000216117.8	+	2	393	c.54G>T	c.(52-54)aaG>aaT	p.K18N		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	18					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	AGGCCCTGAAGGAGGCCACCA	0.577																																																0													85	78	80					22																	35779129		2203	4300	6503	SO:0001583	missense	3162				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.54G>T	chr22.hg19:g.35779129G>T	ENSP00000216117:p.Lys18Asn			Missense_Mutation	SNP	ENST00000216117.8	hg19	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982022	0.74474	.	.	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.26957	1.7;1.7	6.06	2.67	0.31697	Haem oxygenase-like, multi-helical (2);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.91300	3.195	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.60367	-0.7277	10	0.87932	D	0	-50.6157	9.0075	0.36120	0.338:0.0:0.662:0.0	.	18	P09601	HMOX1_HUMAN	N	18	ENSP00000413316:K18N;ENSP00000216117:K18N	ENSP00000216117:K18N	K	+	3	2	HMOX1	34109129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.625000	0.37029	0.909000	0.36697	0.655000	0.94253	AAG		0.577	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			T	35779129	G	T	35779129	3	4	637	1	0	0	0	0	1	0	0	0	7245	991	35	4	60	4	HMOX1	22	35779129	Missense_Mutation	SNP	G	TCGA-EV-5901-01A-11D-1589-08		35779129	15525437	38	34686											
SUN2	25777	hgsc.bcm.edu	37	22	39146253	39146253	+	Missense_Mutation	SNP	A	A	G			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chr22:39146253A>G	ENST00000405510.1	-	6	855	c.497T>C	c.(496-498)cTc>cCc	p.L166P	SUN2_ENST00000406622.1_Missense_Mutation_p.L166P|SUN2_ENST00000411587.2_Missense_Mutation_p.L155P|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.L166P|SUN2_ENST00000405018.1_Missense_Mutation_p.L187P	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	166					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CACCATCCAGAGTAAGGAGCC	0.602																																																0													47	52	50					22																	39146253		2203	4300	6503	SO:0001583	missense	25777			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.497T>C	chr22.hg19:g.39146253A>G	ENSP00000385740:p.Leu166Pro		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	hg19	CCDS13978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.41|14.41	2.527820|2.527820	0.44969|0.44969	.|.	.|.	ENSG00000100242|ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058;ENST00000456894;ENST00000420859|ENST00000430185	T;T;T;T;T;T;T;T|.	0.40756|.	2.3;2.3;2.31;2.3;2.16;1.03;1.23;1.02|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.691574|.	0.13508|.	N|.	0.382686|.	T|T	0.49029|0.49029	0.1533|0.1533	N|N	0.19112|0.19112	0.55|0.55	0.41384|0.41384	D|D	0.987572|0.987572	P;D;D;D;D|.	0.57257|.	0.826;0.979;0.963;0.971;0.963|.	B;P;P;P;P|.	0.50617|.	0.347;0.642;0.642;0.646;0.521|.	T|T	0.46762|0.46762	-0.9168|-0.9168	10|5	0.87932|.	D|.	0|.	-3.5021|-3.5021	13.3916|13.3916	0.60827|0.60827	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	155;201;166;187;166|.	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99|.	.;.;.;.;SUN2_HUMAN|.	P|P	166;166;187;166;155;120;166;120|23	ENSP00000385740:L166P;ENSP00000216064:L166P;ENSP00000385616:L187P;ENSP00000383992:L166P;ENSP00000395601:L155P;ENSP00000406941:L120P;ENSP00000415588:L166P;ENSP00000408834:L120P|.	ENSP00000216064:L166P|.	L|S	-|-	2|1	0|0	SUN2|SUN2	37476199|37476199	0.307000|0.307000	0.24500|0.24500	0.729000|0.729000	0.30791|0.30791	0.137000|0.137000	0.21094|0.21094	1.454000|1.454000	0.35178|0.35178	2.032000|2.032000	0.59987|0.59987	0.528000|0.528000	0.53228|0.53228	CTC|TCT		0.602	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		G	39146253	A	G	39146253	3	3	637	1	0	0	0	0	1	0	0	0	15397	304	11	3	1712	3	SUN2	22	39146253	Missense_Mutation	SNP	A	TCGA-EV-5901-01A-11D-1589-08	3367124	39146253	12158313	39	34687											
DDX3X	1654	hgsc.bcm.edu	37	X	41202004	41202004	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5901-01A-11D-1589-08	TCGA-EV-5901-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	846543e9-145b-4332-9043-5817b55e2208	8623db0f-675b-4d34-ba2b-5c12aa3e9b7b	g.chrX:41202004G>A	ENST00000399959.2	+	6	1313	c.458G>A	c.(457-459)gGa>gAa	p.G153E	DDX3X_ENST00000457138.2_Missense_Mutation_p.G137E|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Missense_Mutation_p.G197E	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	153	Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTCTTTTCTGGAGGCAACACT	0.363										HNSCC(61;0.18)																																						0													102	93	96					X																	41202004		2049	4205	6254	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.458G>A	chrX.hg19:g.41202004G>A	ENSP00000382840:p.Gly153Glu		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	hg19	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209130	0.39003	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000542215	T;T;T	0.42513	2.21;2.18;0.97	5.75	5.75	0.90469	.	0.050157	0.85682	D	0.000000	T	0.38799	0.1054	L	0.45228	1.405	0.80722	D	1	B;B;B;B;B	0.11235	0.004;0.002;0.001;0.004;0.004	B;B;B;B;B	0.10450	0.005;0.005;0.003;0.005;0.005	T	0.15407	-1.0438	10	0.20046	T	0.44	-0.7141	18.9517	0.92643	0.0:0.0:1.0:0.0	.	153;137;153;165;153	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	E	153;137;197	ENSP00000382840:G153E;ENSP00000392494:G137E;ENSP00000439799:G197E	ENSP00000382840:G153E	G	+	2	0	DDX3X	41086948	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.723000	0.61965	2.424000	0.82194	0.600000	0.82982	GGA		0.363	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		A	41202004	G	A	41202004	3	1	637	1	0	0	0	0	1	0	0	0	4360	1174	41	2	480	2	DDX3X	23	41202004	Missense_Mutation	SNP	G	TCGA-EV-5901-01A-11D-1589-08		41202004	114068556	40	34688											
AHDC1	27245	hgsc.bcm.edu	37	1	27875947	27875947	+	Missense_Mutation	SNP	T	T	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:27875947T>G	ENST00000247087.5	-	5	3276	c.2680A>C	c.(2680-2682)Aag>Cag	p.K894Q	AHDC1_ENST00000374011.2_Missense_Mutation_p.K894Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	894							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCTGGCCTTGGCTCCCCGG	0.716																																																0													19	23	22					1																	27875947		2196	4287	6483	SO:0001583	missense	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2680A>C	chr1.hg19:g.27875947T>G	ENSP00000247087:p.Lys894Gln		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	hg19	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943941	0.73672	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.55052	0.54;0.54	5.77	5.77	0.91146	.	0.088674	0.42548	D	0.000697	T	0.57504	0.2058	N	0.14661	0.345	0.46774	D	0.999191	D	0.76494	0.999	D	0.83275	0.996	T	0.64740	-0.6336	10	0.72032	D	0.01	-11.4835	15.0705	0.72034	0.0:0.0:0.0:1.0	.	894	Q5TGY3	AHDC1_HUMAN	Q	894	ENSP00000247087:K894Q;ENSP00000363123:K894Q	ENSP00000247087:K894Q	K	-	1	0	AHDC1	27748534	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.070000	0.76763	2.199000	0.70637	0.533000	0.62120	AAG		0.716	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			G	27875947	T	G	27875947	3	3	638	1	0	0	0	0	1	0	0	0	412	1821	63	5	2135	5	AHDC1	1	27875947	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08		27875947	221374674	1	34689											
RLF	6018	hgsc.bcm.edu	37	1	40705390	40705391	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:40705390_40705391insT	ENST00000372771.4	+	8	5043_5044	c.5016_5017insT	c.(5017-5019)aaafs	p.K1673fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1673					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGGAACTTTGAAATGTAATCA	0.411																																																0																																										SO:0001589	frameshift_variant	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	Exception_encountered	chr1.hg19:g.40705390_40705391insT	ENSP00000361857:p.Lys1673fs		Q14CQ1|Q9NU60	Frame_Shift_Ins	INS	ENST00000372771.4	hg19	CCDS448.1																																																																																				0.411	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		T	40705391	-	T	40705390	7	5	638	1	0	1	1	0	0	0	0	0	13395	1281	45	0	5046	0	RLF	1	40705390	Frame_Shift_Ins	INS	-	TCGA-EV-5902-01A-11D-1589-08	12829443	40705390	208545231	2	34690											
FLG	2312	hgsc.bcm.edu	37	1	152279672	152279672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:152279672C>A	ENST00000368799.1	-	3	7725	c.7690G>T	c.(7690-7692)Gga>Tga	p.G2564*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2564	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAACTGGATCCCCAGTTCCTG	0.582									Ichthyosis																																							0													187	200	196					1																	152279672		2201	4300	6501	SO:0001587	stop_gained	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7690G>T	chr1.hg19:g.152279672C>A	ENSP00000357789:p.Gly2564*		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	46	12.137190	0.99639	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.61	-1.65	0.08291	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	7.5003	0.27513	0.0:0.4216:0.4707:0.1077	.	.	.	.	X	2564	.	ENSP00000357789:G2564X	G	-	1	0	FLG	150546296	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.888000	0.28268	-0.164000	0.10927	0.306000	0.20318	GGA		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		A	152279672	C	A	152279672	4	1	638	1	0	0	0	0	0	1	0	0	5924	632	22	4	4499	4	FLG	1	152279672	Nonsense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08	111574282	152279672	96970949	3	34691											
MYOC	4653	hgsc.bcm.edu	37	1	171605341	171605341	+	Silent	SNP	G	G	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:171605341G>C	ENST00000037502.6	-	3	1310	c.1239C>G	c.(1237-1239)ctC>ctG	p.L413L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	413	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGGTTTGTTCGAGTTCCAGAT	0.522																																																0													210	193	199					1																	171605341		2203	4300	6503	SO:0001819	synonymous_variant	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1239C>G	chr1.hg19:g.171605341G>C			B2RD84|O00620|Q7Z6Q9	Silent	SNP	ENST00000037502.6	hg19	CCDS1297.1																																																																																				0.522	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		C	171605341	G	C	171605341	2	2	638	1	0	0	0	0	0	0	0	1	10088	1045	37	4		4	MYOC	1	171605341	Silent	SNP	G	TCGA-EV-5902-01A-11D-1589-08	19325669	171605341	77645280	4	34692											
OBSCN	84033	hgsc.bcm.edu	37	1	228473855	228473855	+	Silent	SNP	G	G	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:228473855G>C	ENST00000422127.1	+	34	9125	c.9081G>C	c.(9079-9081)cgG>cgC	p.R3027R	OBSCN_ENST00000284548.11_Silent_p.R3027R|OBSCN_ENST00000570156.2_Silent_p.R3456R|OBSCN_ENST00000366707.4_Silent_p.R146R|OBSCN_ENST00000359599.6_Silent_p.R1874R|OBSCN_ENST00000366709.4_Silent_p.R146R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3027	Ig-like 30.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCGTTGCCGGATCTCCCCGG	0.627																																																0													33	43	40					1																	228473855		2117	4218	6335	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9081G>C	chr1.hg19:g.228473855G>C			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	hg19	CCDS58065.1																																																																																				0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		C	228473855	G	C	228473855	2	2	638	1	0	0	0	0	0	0	0	1	10814	1161	41	4		4	OBSCN	1	228473855	Silent	SNP	G	TCGA-EV-5902-01A-11D-1589-08	56868514	228473855	20776766	5	34693											
BIRC6	57448	hgsc.bcm.edu	37	2	32667276	32667276	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:32667276A>C	ENST00000421745.2	+	18	4222	c.4088A>C	c.(4087-4089)cAt>cCt	p.H1363P		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1363					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTGGAGTTCATTCAAATGGA	0.383																																					Pancreas(94;175 1509 16028 18060 45422)											0													62	61	61					2																	32667276		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4088A>C	chr2.hg19:g.32667276A>C	ENSP00000393596:p.His1363Pro		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	14.04	2.417748	0.42918	.	.	ENSG00000115760	ENST00000421745	T	0.74209	-0.82	5.4	5.4	0.78164	.	0.220885	0.39083	N	0.001466	T	0.66317	0.2777	L	0.29908	0.895	0.40728	D	0.982722	B	0.22604	0.072	B	0.25291	0.059	T	0.65697	-0.6105	10	0.59425	D	0.04	.	15.4322	0.75108	1.0:0.0:0.0:0.0	.	1363	Q9NR09	BIRC6_HUMAN	P	1363	ENSP00000393596:H1363P	ENSP00000393596:H1363P	H	+	2	0	BIRC6	32520780	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.513000	0.60476	2.039000	0.60335	0.519000	0.50382	CAT		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		C	32667276	A	C	32667276	3	2	638	1	0	0	0	0	1	0	0	0	1438	217	8	5	4158	5	BIRC6	2	32667276	Missense_Mutation	SNP	A	TCGA-EV-5902-01A-11D-1589-08		32667276	210532097	6	34694											
HNRPLL	92906	hgsc.bcm.edu	37	2	38791355	38791355	+	Missense_Mutation	SNP	T	T	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:38791355T>A	ENST00000449105.3	-	13	1937	c.1598A>T	c.(1597-1599)aAg>aTg	p.K533M	HNRNPLL_ENST00000409328.1_Missense_Mutation_p.K499M|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.K499M|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.K533M|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.K528M			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	533					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										AAAGCAAAGCTTCAATGTATA	0.289																																																0													86	94	91					2																	38791355		2203	4298	6501	SO:0001583	missense	92906			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.1598A>T	chr2.hg19:g.38791355T>A	ENSP00000390625:p.Lys533Met		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	hg19		.	.	.	.	.	.	.	.	.	.	T	19.35	3.810102	0.70797	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328	.	.	.	5.83	5.83	0.93111	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.994;0.994;0.996	T	0.83330	-0.0013	9	0.87932	D	0	.	16.194	0.82011	0.0:0.0:0.0:1.0	.	528;533;533	C9J9G0;D6W592;Q8WVV9	.;.;HNRLL_HUMAN	M	533;528;499;499	.	ENSP00000368195:K499M	K	-	2	0	HNRPLL	38644859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.360000	0.79487	2.225000	0.72522	0.460000	0.39030	AAG		0.289	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		A	38791355	T	A	38791355	3	1	638	1	0	0	0	0	1	0	0	0	7279	1609	56	5	34	5	HNRPLL	2	38791355	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08	6124079	38791355	204408018	7	34695											
DHX57	90957	hgsc.bcm.edu	37	2	39030017	39030017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:39030017delT	ENST00000295373.6	-	23	3983	c.3857delA	c.(3856-3858)aagfs	p.K1286fs		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1286							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGTTTTTATCTTCTCGTGGTA	0.468																																					Melanoma(191;1090 2095 4375 23729 47341)											0													165	163	164					2																	39030017		2203	4300	6503	SO:0001589	frameshift_variant	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3857delA	chr2.hg19:g.39030017delT	ENSP00000295373:p.Lys1286fs		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Frame_Shift_Del	DEL	ENST00000295373.6	hg19	CCDS1800.1																																																																																				0.468	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		-	39030017	T	-	39030017	7	5	638	1	0	1	0	1	0	0	0	0	4515	1609	56	0	311	0	DHX57	2	39030017	Frame_Shift_Del	DEL	T	TCGA-EV-5902-01A-11D-1589-08	238662	39030017	204169356	8	34696											
SLC3A1	6519	hgsc.bcm.edu	37	2	44508525	44508525	+	Splice_Site	SNP	G	G	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:44508525G>C	ENST00000260649.6	+	3	686		c.e3-1		SLC3A1_ENST00000409229.3_Splice_Site|SLC3A1_ENST00000409741.1_Splice_Site|SLC3A1_ENST00000410056.3_Splice_Site|SLC3A1_ENST00000409387.1_Splice_Site	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTACTCATTAGGTTTAAAATT	0.353																																																0													64	63	63					2																	44508525		2203	4300	6503	SO:0001630	splice_region_variant	6519				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.611-1G>C	chr2.hg19:g.44508525G>C			A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Splice_Site	SNP	ENST00000260649.6	hg19	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112058	0.37242	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.147	0.86768	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC3A1	44362029	1.000000	0.71417	0.999000	0.59377	0.336000	0.28762	9.024000	0.93689	2.323000	0.78572	0.551000	0.68910	.		0.353	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341	Intron	C	44508525	G	C	44508525	5	2	638	1	0	0	0	0	0	0	1	0	14632	1014	35	4	620	4	SLC3A1	2	44508525	Splice_Site	SNP	G	TCGA-EV-5902-01A-11D-1589-08	5478508	44508525	198690848	9	34697											
FSHR	2492	hgsc.bcm.edu	37	2	49190328	49190328	+	Silent	SNP	G	G	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:49190328G>A	ENST00000406846.2	-	10	1751	c.1632C>T	c.(1630-1632)gtC>gtT	p.V544V	FSHR_ENST00000304421.4_Silent_p.V518V|FSHR_ENST00000541117.1_Silent_p.V280V|FSHR_ENST00000346173.3_Silent_p.V482V	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	544					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AGCCACAGATGACCACAAAGG	0.532									Gonadal Dysgenesis, 46 XX																																							0													141	111	121					2																	49190328		2203	4300	6503	SO:0001819	synonymous_variant	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1632C>T	chr2.hg19:g.49190328G>A			A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	hg19	CCDS1843.1																																																																																				0.532	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			A	49190328	G	A	49190328	2	1	638	1	0	0	0	0	0	0	0	1	6075	1277	45	2		2	FSHR	2	49190328	Silent	SNP	G	TCGA-EV-5902-01A-11D-1589-08	4681803	49190328	194009045	10	34698											
MRPS5	64969	hgsc.bcm.edu	37	2	95753148	95753148	+	Missense_Mutation	SNP	C	C	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:95753148C>G	ENST00000272418.2	-	12	1455	c.1247G>C	c.(1246-1248)gGa>gCa	p.G416A		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	416					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCGCTTCATTCCCTGTGCAGT	0.572																																																0													103	96	99					2																	95753148		2203	4300	6503	SO:0001583	missense	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1247G>C	chr2.hg19:g.95753148C>G	ENSP00000272418:p.Gly416Ala		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	hg19	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318910	0.60524	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.98	5.1	0.69264	.	0.052056	0.85682	D	0.000000	T	0.75781	0.3896	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.78175	-0.2306	9	0.72032	D	0.01	-16.5572	13.0098	0.58725	0.0:0.9224:0.0:0.0776	.	416	P82675	RT05_HUMAN	A	416	.	ENSP00000272418:G416A	G	-	2	0	MRPS5	95116875	1.000000	0.71417	0.990000	0.47175	0.070000	0.16714	6.883000	0.75595	1.560000	0.49568	0.650000	0.86243	GGA		0.572	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		G	95753148	C	G	95753148	3	3	638	1	0	0	0	0	1	0	0	0	9848	855	30	4	49	4	MRPS5	2	95753148	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08	46562820	95753148	147446225	11	34699											
IL1RL2	8808	hgsc.bcm.edu	37	2	102836361	102836361	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:102836361A>C	ENST00000264257.2	+	8	1001	c.875A>C	c.(874-876)gAa>gCa	p.E292A	IL1RL2_ENST00000441515.2_Missense_Mutation_p.E174A|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.E292A	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	292	Ig-like C2-type 3.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCTTTTCGGGAACATAATTTG	0.358																																																0													103	98	100					2																	102836361		2203	4300	6503	SO:0001583	missense	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.875A>C	chr2.hg19:g.102836361A>C	ENSP00000264257:p.Glu292Ala		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	hg19	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	A	5.529	0.282573	0.10458	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.13901	2.55;2.55;2.55	5.09	2.7	0.31948	.	1.166780	0.05889	N	0.627921	T	0.11495	0.0280	L	0.36672	1.1	0.09310	N	1	B;B	0.25312	0.057;0.123	B;B	0.22753	0.028;0.041	T	0.41342	-0.9514	10	0.17369	T	0.5	.	6.8812	0.24174	0.8123:0.0:0.1877:0.0	.	174;292	A4FU63;Q9HB29	.;ILRL2_HUMAN	A	292;174;292	ENSP00000264257:E292A;ENSP00000413348:E174A;ENSP00000442184:E292A	ENSP00000264257:E292A	E	+	2	0	IL1RL2	102202793	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.965000	0.29319	0.357000	0.24183	-0.256000	0.11100	GAA		0.358	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		C	102836361	A	C	102836361	3	2	638	1	0	0	0	0	1	0	0	0	7666	246	9	5	901	5	IL1RL2	2	102836361	Missense_Mutation	SNP	A	TCGA-EV-5902-01A-11D-1589-08	7083213	102836361	140363012	12	34700											
XIRP2	129446	hgsc.bcm.edu	37	2	168115244	168115247	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	TTTC	TTTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:168115244_168115247delTTTC	ENST00000409728.1	+	11	2376_2379	c.2287_2290delTTTC	c.(2287-2292)tttcttfs	p.FL763fs	XIRP2_ENST00000409043.1_Frame_Shift_Del_p.FL730fs|XIRP2_ENST00000409605.1_Frame_Shift_Del_p.FL508fs|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Frame_Shift_Del_p.FL763fs|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Frame_Shift_Del_p.FL730fs	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1281					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATTTTAGAATTTCTTGATCTATT	0.299																																																0																																										SO:0001589	frameshift_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2287_2290delTTTC	chr2.hg19:g.168115244_168115247delTTTC	ENSP00000386619:p.Phe763fs		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Del	DEL	ENST00000409728.1	hg19	CCDS56143.1																																																																																				0.299	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		-	168115247	TTTC	-	168115244	7	5	638	1	0	1	0	1	0	0	0	0	17435	1493	52	0	11605	0	XIRP2	2	168115244	Frame_Shift_Del	DEL	TTTC	TCGA-EV-5902-01A-11D-1589-08	65278883	168115244	75084129	13	34701											
CASP10	843	hgsc.bcm.edu	37	2	202073930	202073931	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:202073930_202073931delTG	ENST00000272879.5	+	9	1244_1245	c.1060_1061delTG	c.(1060-1062)tgtfs	p.C354fs	CASP10_ENST00000313728.7_Frame_Shift_Del_p.C287fs|CASP10_ENST00000448480.1_Frame_Shift_Del_p.C311fs|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Frame_Shift_Del_p.C311fs|CASP10_ENST00000286186.6_Frame_Shift_Del_p.C354fs	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	354					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CTTCGTGTTCTGTATTCTGACC	0.515																																																0																																										SO:0001589	frameshift_variant	843			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1060_1061delTG	chr2.hg19:g.202073930_202073931delTG	ENSP00000272879:p.Cys354fs		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Frame_Shift_Del	DEL	ENST00000272879.5	hg19	CCDS2338.1																																																																																				0.515	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		-	202073931	TG	-	202073930	7	5	638	1	0	1	0	1	0	0	0	0	2671	1580	55	0	1090	0	CASP10	2	202073930	Frame_Shift_Del	DEL	TG	TCGA-EV-5902-01A-11D-1589-08	33958686	202073930	41125443	14	34702											
WNT10A	80326	hgsc.bcm.edu	37	2	219754716	219754716	+	Missense_Mutation	SNP	G	G	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:219754716G>C	ENST00000258411.3	+	3	1020	c.387G>C	c.(385-387)gaG>gaC	p.E129D	WNT10A_ENST00000483911.1_3'UTR	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	129					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTTCCGAGAGAGCGCTTTTG	0.582																																																0													96	86	90					2																	219754716		2203	4300	6503	SO:0001583	missense	80326			AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"Wingless-type MMTV integration sites"	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.387G>C	chr2.hg19:g.219754716G>C	ENSP00000258411:p.Glu129Asp		Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	hg19	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993868	0.74703	.	.	ENSG00000135925	ENST00000258411	D	0.84944	-1.92	4.7	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.94627	0.8268	H	0.97564	4.03	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.95446	0.8530	10	0.72032	D	0.01	.	12.015	0.53309	0.085:0.0:0.915:0.0	.	129	Q9GZT5	WN10A_HUMAN	D	129	ENSP00000258411:E129D	ENSP00000258411:E129D	E	+	3	2	WNT10A	219462960	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.220000	0.42908	1.338000	0.45544	0.655000	0.94253	GAG		0.582	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		C	219754716	G	C	219754716	3	2	638	1	0	0	0	0	1	0	0	0	17387	933	33	4	397	4	WNT10A	2	219754716	Missense_Mutation	SNP	G	TCGA-EV-5902-01A-11D-1589-08	17680786	219754716	23444657	15	34703											
NR1D2	9975	hgsc.bcm.edu	37	3	24003534	24003534	+	Missense_Mutation	SNP	T	T	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:24003534T>G	ENST00000312521.4	+	5	903	c.584T>G	c.(583-585)aTg>aGg	p.M195R	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	195	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CAAAGTGCAATGAAGACCATG	0.413																																																0													72	63	66					3																	24003534		2203	4300	6503	SO:0001583	missense	9975			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.584T>G	chr3.hg19:g.24003534T>G	ENSP00000310006:p.Met195Arg		B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	hg19	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347423	0.82022	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.92647	-3.08	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95294	0.8397	10	0.52906	T	0.07	.	16.4614	0.84056	0.0:0.0:0.0:1.0	.	195	Q14995	NR1D2_HUMAN	R	195	ENSP00000310006:M195R	ENSP00000310006:M195R	M	+	2	0	NR1D2	23978538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.635000	0.83286	2.285000	0.76669	0.533000	0.62120	ATG		0.413	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			G	24003534	T	G	24003534	3	3	638	1	0	0	0	0	1	0	0	0	10618	1464	51	5	602	5	NR1D2	3	24003534	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08		24003534	174018896	16	34704											
TGM4	7047	hgsc.bcm.edu	37	3	44935102	44935102	+	Missense_Mutation	SNP	G	G	A	rs147559877		TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:44935102G>A	ENST00000296125.4	+	5	532	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	155					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GAGGACGAGCGCAAAGAGTAC	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15581	0.0		0.0	False		,,,				2504	0.0															0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	129	115	120		464	-1.3	0	3	dbSNP_134	120	0,8600		0,0,4300	no	missense	TGM4	NM_003241.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	155/685	44935102	2,13004	2203	4300	6503	SO:0001583	missense	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.464G>A	chr3.hg19:g.44935102G>A	ENSP00000296125:p.Arg155His		Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	hg19	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455059	0.43634	4.54E-4	0.0	ENSG00000163810	ENST00000296125	D	0.92099	-2.97	2.32	-1.33	0.09172	.	0.000000	0.40818	U	0.001008	D	0.95056	0.8399	M	0.90870	3.155	0.09310	N	0.999991	D	0.89917	1.0	D	0.79784	0.993	D	0.88191	0.2877	10	0.66056	D	0.02	.	4.1154	0.10079	0.3177:0.0:0.5237:0.1586	.	155	P49221	TGM4_HUMAN	H	155	ENSP00000296125:R155H	ENSP00000296125:R155H	R	+	2	0	TGM4	44910106	0.694000	0.27738	0.000000	0.03702	0.008000	0.06430	1.522000	0.35921	-0.584000	0.05913	-0.518000	0.04402	CGC		0.507	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		A	44935102	G	A	44935102	3	1	638	1	0	0	0	0	1	0	0	0	15837	1087	38	1	482	1	TGM4	3	44935102	Missense_Mutation	SNP	G	TCGA-EV-5902-01A-11D-1589-08	20931568	44935102	153087328	17	34705											
LZTFL1	54585	hgsc.bcm.edu	37	3	45874547	45874547	+	Missense_Mutation	SNP	T	T	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:45874547T>G	ENST00000296135.6	-	5	625	c.451A>C	c.(451-453)Aac>Cac	p.N151H	LZTFL1_ENST00000539217.1_Missense_Mutation_p.N147H|LZTFL1_ENST00000536047.1_Missense_Mutation_p.N134H|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	151	Interaction with BSS9.				establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ATTACCTTGTTTAGGAGTTCT	0.393																																																0													100	99	99					3																	45874547		2203	4300	6503	SO:0001583	missense	54585			AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.451A>C	chr3.hg19:g.45874547T>G	ENSP00000296135:p.Asn151His		B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	ENST00000296135.6	hg19	CCDS2731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.78|16.78	3.217504|3.217504	0.58560|0.58560	.|.	.|.	ENSG00000163818|ENSG00000163818	ENST00000440576|ENST00000296135;ENST00000536047;ENST00000539217	.|T;T;T	.|0.24151	.|1.87;1.87;1.87	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.131960	.|0.64402	.|D	.|0.000002	T|T	0.28333|0.28333	0.0700|0.0700	L|L	0.58302|0.58302	1.8|1.8	0.54753|0.54753	D|D	0.999989|0.999989	.|B	.|0.12013	.|0.005	.|B	.|0.16289	.|0.015	T|T	0.03166|0.03166	-1.1065|-1.1065	5|10	.|0.38643	.|T	.|0.18	-17.4947|-17.4947	14.7592|14.7592	0.69593|0.69593	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|151	.|Q9NQ48	.|LZTL1_HUMAN	T|H	108|151;134;147	.|ENSP00000296135:N151H;ENSP00000439522:N134H;ENSP00000441784:N147H	.|ENSP00000296135:N151H	K|N	-|-	2|1	0|0	LZTFL1|LZTFL1	45849551|45849551	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	7.333000|7.333000	0.79214|0.79214	2.074000|2.074000	0.62210|0.62210	0.528000|0.528000	0.53228|0.53228	AAA|AAC		0.393	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347		G	45874547	T	G	45874547	3	3	638	1	0	0	0	0	1	0	0	0	9138	1841	64	5	472	5	LZTFL1	3	45874547	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08	939445	45874547	152147883	18	34706											
USP4	7375	hgsc.bcm.edu	37	3	49362339	49362339	+	Silent	SNP	T	T	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:49362339T>C	ENST00000265560.4	-	5	667	c.621A>G	c.(619-621)ctA>ctG	p.L207L	USP4_ENST00000351842.4_Silent_p.L207L|USP4_ENST00000416417.1_Silent_p.L207L|USP4_ENST00000415188.1_Silent_p.L207L	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	207	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.|Ubiquitin-like 1.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GACCCTGGTATAGCCCAGCAT	0.547																																																0													154	156	155					3																	49362339		2203	4300	6503	SO:0001819	synonymous_variant	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.621A>G	chr3.hg19:g.49362339T>C			A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	hg19	CCDS2793.1																																																																																				0.547	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		C	49362339	T	C	49362339	2	2	638	1	0	0	0	0	0	0	0	1	17076	1393	49	3		3	USP4	3	49362339	Silent	SNP	T	TCGA-EV-5902-01A-11D-1589-08	3487792	49362339	148660091	19	34707											
CNTN3	5067	hgsc.bcm.edu	37	3	74350871	74350871	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:74350871G>T	ENST00000263665.6	-	14	1899	c.1872C>A	c.(1870-1872)aaC>aaA	p.N624K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	624	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGGGCTATGGTTGTCTTTAC	0.468																																																0													309	273	285					3																	74350871		2203	4300	6503	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1872C>A	chr3.hg19:g.74350871G>T	ENSP00000263665:p.Asn624Lys		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	hg19	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579172	0.65878	.	.	ENSG00000113805	ENST00000263665	T	0.56611	0.45	5.98	2.16	0.27623	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.091203	0.85682	D	0.000000	T	0.71576	0.3356	M	0.89030	3	0.38345	D	0.944171	P	0.46020	0.871	P	0.61132	0.884	T	0.76044	-0.3103	10	0.87932	D	0	.	10.2822	0.43545	0.4578:0.0:0.5422:0.0	.	624	Q9P232	CNTN3_HUMAN	K	624	ENSP00000263665:N624K	ENSP00000263665:N624K	N	-	3	2	CNTN3	74433561	0.972000	0.33761	0.988000	0.46212	0.988000	0.76386	0.098000	0.15189	0.415000	0.25817	0.591000	0.81541	AAC		0.468	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		T	74350871	G	T	74350871	3	4	638	1	0	0	0	0	1	0	0	0	3644	1252	44	4	1250	4	CNTN3	3	74350871	Missense_Mutation	SNP	G	TCGA-EV-5902-01A-11D-1589-08	24988532	74350871	123671559	20	34708											
PIK3CB	5291	hgsc.bcm.edu	37	3	138456588	138456588	+	Silent	SNP	T	T	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:138456588T>C	ENST00000477593.1	-	5	835	c.762A>G	c.(760-762)gtA>gtG	p.V254V	PIK3CB_ENST00000289153.2_Silent_p.V254V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	254	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AAACATATTCTACTCTCCCGC	0.318																																																0													96	88	91					3																	138456588		2203	4300	6503	SO:0001819	synonymous_variant	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.762A>G	chr3.hg19:g.138456588T>C			D3DNF0|Q24JU2	Silent	SNP	ENST00000477593.1	hg19	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	T	0.792	-0.758451	0.03019	.	.	ENSG00000051382	ENST00000462294	.	.	.	5.82	-3.54	0.04653	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.8436	11.0692	0.47993	0.1175:0.6147:0.0:0.2678	.	.	.	.	W	122	.	.	X	-	2	0	PIK3CB	139939278	0.887000	0.30362	0.907000	0.35723	0.002000	0.02628	-0.157000	0.10085	-0.658000	0.05366	-1.216000	0.01612	TAG		0.318	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			C	138456588	T	C	138456588	2	2	638	1	0	0	0	0	0	0	0	1	11916	1509	53	3		3	PIK3CB	3	138456588	Silent	SNP	T	TCGA-EV-5902-01A-11D-1589-08	64105717	138456588	59565842	21	34709											
RNF168	165918	hgsc.bcm.edu	37	3	196214405	196214405	+	Silent	SNP	G	G	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:196214405G>T	ENST00000318037.3	-	3	1017	c.423C>A	c.(421-423)gcC>gcA	p.A141A		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	141	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ATTCTTCACTGGCTTTGTTTT	0.443																																																0													223	208	213					3																	196214405		2203	4300	6503	SO:0001819	synonymous_variant	165918			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.423C>A	chr3.hg19:g.196214405G>T			Q8NA67|Q96NS4	Silent	SNP	ENST00000318037.3	hg19	CCDS3317.1																																																																																				0.443	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		T	196214405	G	T	196214405	2	4	638	1	0	0	0	0	0	0	0	1	13465	1335	47	4		4	RNF168	3	196214405	Silent	SNP	G	TCGA-EV-5902-01A-11D-1589-08	57757817	196214405	1808025	22	34710											
TLR6	10333	hgsc.bcm.edu	37	4	38830116	38830116	+	Missense_Mutation	SNP	C	C	A	rs3796508	byFrequency	TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr4:38830116C>A	ENST00000381950.1	-	1	1044	c.979G>T	c.(979-981)Gtg>Ttg	p.V327L	TLR6_ENST00000436693.2_Missense_Mutation_p.V327L			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	327			V -> M (in dbSNP:rs3796508). {ECO:0000269|PubMed:21618349, ECO:0000269|Ref.3}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGAAAACACGGTGTACAAA	0.343																																																0													68	72	71					4																	38830116		2203	4300	6503	SO:0001583	missense	10333				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.979G>T	chr4.hg19:g.38830116C>A	ENSP00000371376:p.Val327Leu		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	hg19	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.699200	0.00725	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.07216	3.21;3.21	5.08	0.624	0.17659	.	0.875863	0.09937	N	0.736454	T	0.03959	0.0111	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.46400	-0.9194	10	0.07482	T	0.82	.	0.9789	0.01432	0.1458:0.2038:0.2868:0.3636	.	327	Q9Y2C9	TLR6_HUMAN	L	327	ENSP00000389600:V327L;ENSP00000371376:V327L	ENSP00000371376:V327L	V	-	1	0	TLR6	38506511	0.000000	0.05858	0.152000	0.22495	0.301000	0.27625	-0.736000	0.04882	0.168000	0.19655	0.491000	0.48974	GTG		0.343	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			A	38830116	C	A	38830116	3	1	638	1	0	0	0	0	1	0	0	0	15960	536	19	4	1415	4	TLR6	4	38830116	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08		38830116	152324160	23	34711											
YTHDC1	91746	hgsc.bcm.edu	37	4	69203291	69203291	+	Splice_Site	SNP	T	T	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr4:69203291T>G	ENST00000344157.4	-	3	793	c.458A>C	c.(457-459)gAg>gCg	p.E153A	YTHDC1_ENST00000579690.1_Splice_Site_p.E153A|YTHDC1_ENST00000355665.3_Splice_Site_p.E153A	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	153					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ATTTACTACCTCAGAACCATC	0.403																																																0													48	47	47					4																	69203291		2200	4300	6500	SO:0001630	splice_region_variant	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.459+1A>C	chr4.hg19:g.69203291T>G			Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	hg19	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.287484	0.40494	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.30448	1.68;1.53	5.29	5.29	0.74685	.	0.369189	0.29396	N	0.012273	T	0.24084	0.0583	L	0.27053	0.805	0.52099	D	0.999947	B;B	0.32573	0.376;0.0	B;B	0.34722	0.188;0.001	T	0.06826	-1.0805	10	0.49607	T	0.09	.	11.8336	0.52309	0.0:0.0:0.1463:0.8537	.	153;153	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	A	153	ENSP00000339245:E153A;ENSP00000347888:E153A	ENSP00000339245:E153A	E	-	2	0	YTHDC1	68885886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.195000	0.58400	1.981000	0.57761	0.477000	0.44152	GAG		0.403	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	Missense_Mutation	G	69203291	T	G	69203291	5	3	638	1	0	0	0	0	0	0	1	0	17501	1565	54	5	1785	5	YTHDC1	4	69203291	Splice_Site	SNP	T	TCGA-EV-5902-01A-11D-1589-08	30373175	69203291	121950985	24	34712											
ENAM	10117	hgsc.bcm.edu	37	4	71510231	71510231	+	Missense_Mutation	SNP	C	C	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr4:71510231C>T	ENST00000396073.3	+	9	3369	c.3088C>T	c.(3088-3090)Cca>Tca	p.P1030S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1030					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGGCTCCAATCCAGAAGGCAT	0.433																																																0													119	104	109					4																	71510231		2203	4300	6503	SO:0001583	missense	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3088C>T	chr4.hg19:g.71510231C>T	ENSP00000379383:p.Pro1030Ser		Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	hg19	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416036	0.25552	.	.	ENSG00000132464	ENST00000396073	T	0.37411	1.2	5.97	5.11	0.69529	.	0.116712	0.39407	N	0.001380	T	0.49660	0.1570	M	0.81802	2.56	0.30657	N	0.754852	P	0.50272	0.933	P	0.49477	0.612	T	0.60596	-0.7232	10	0.62326	D	0.03	-10.6665	12.7104	0.57086	0.1631:0.8369:0.0:0.0	.	1030	Q9NRM1	ENAM_HUMAN	S	1030	ENSP00000379383:P1030S	ENSP00000379383:P1030S	P	+	1	0	ENAM	71729095	0.747000	0.28283	0.848000	0.33437	0.024000	0.10985	1.284000	0.33249	2.836000	0.97738	0.655000	0.94253	CCA		0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		T	71510231	C	T	71510231	3	4	638	1	0	0	0	0	1	0	0	0	5114	855	30	2	3118	2	ENAM	4	71510231	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08	2306940	71510231	119644045	25	34713											
ANXA3	306	hgsc.bcm.edu	37	4	79512751	79512751	+	Missense_Mutation	SNP	C	C	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr4:79512751C>T	ENST00000264908.6	+	7	836	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	ANXA3_ENST00000503570.2_Missense_Mutation_p.R114W|ANXA3_ENST00000512884.1_Missense_Mutation_p.R114W	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	153					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGGTGACTTCCGGAAAGCTCT	0.343																																					GBM(2;126 157 27790 28920 42492)											0													135	139	138					4																	79512751		2203	4300	6503	SO:0001583	missense	306			M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.457C>T	chr4.hg19:g.79512751C>T	ENSP00000264908:p.Arg153Trp		B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	hg19	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142653	0.77888	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570;ENST00000514171	T;T;T;T	0.03831	3.79;3.79;3.79;3.79	5.21	4.3	0.51218	Annexin repeat, conserved site (1);	0.348448	0.28901	N	0.013775	T	0.23410	0.0566	M	0.90759	3.145	0.46260	D	0.998954	D	0.89917	1.0	D	0.69142	0.962	T	0.00593	-1.1654	10	0.87932	D	0	.	10.6705	0.45755	0.3225:0.6775:0.0:0.0	.	153	P12429	ANXA3_HUMAN	W	153;114;114;153	ENSP00000264908:R153W;ENSP00000423068:R114W;ENSP00000421015:R114W;ENSP00000421512:R153W	ENSP00000264908:R153W	R	+	1	2	ANXA3	79731775	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.345000	0.33953	2.708000	0.92522	0.585000	0.79938	CGG		0.343	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		T	79512751	C	T	79512751	3	4	638	1	0	0	0	0	1	0	0	0	719	643	23	1	479	1	ANXA3	4	79512751	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08	8002520	79512751	111641525	26	34714											
TRIO	7204	hgsc.bcm.edu	37	5	14471560	14471560	+	Missense_Mutation	SNP	C	C	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:14471560C>T	ENST00000344204.4	+	38	5921	c.5897C>T	c.(5896-5898)tCt>tTt	p.S1966F	TRIO_ENST00000537187.1_Missense_Mutation_p.S1966F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1966					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAATCCAGCTCTTTAAAGAGA	0.438																																																0													73	70	71					5																	14471560		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5897C>T	chr5.hg19:g.14471560C>T	ENSP00000339299:p.Ser1966Phe		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	hg19	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936293	0.52972	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T	0.68479	-0.33;-0.33	5.39	5.39	0.77823	Dbl homology (DH) domain (2);	0.056462	0.64402	D	0.000001	T	0.48150	0.1484	N	0.03608	-0.345	0.47737	D	0.999501	B;B	0.14805	0.011;0.0	B;B	0.15052	0.012;0.001	T	0.45293	-0.9271	10	0.52906	T	0.07	.	19.2167	0.93781	0.0:1.0:0.0:0.0	.	1966;1966	O75962-5;O75962	.;TRIO_HUMAN	F	1966;1966;1653;46	ENSP00000339299:S1966F;ENSP00000446348:S1966F	ENSP00000339299:S1966F	S	+	2	0	TRIO	14524560	1.000000	0.71417	0.951000	0.38953	0.965000	0.64279	5.667000	0.68067	2.537000	0.85549	0.650000	0.86243	TCT		0.438	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		T	14471560	C	T	14471560	3	4	638	1	0	0	0	0	1	0	0	0	16557	913	32	2	6047	2	TRIO	5	14471560	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08		14471560	166443700	27	34715											
RICTOR	253260	hgsc.bcm.edu	37	5	38954924	38954924	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:38954924A>C	ENST00000357387.3	-	27	2679	c.2649T>G	c.(2647-2649)taT>taG	p.Y883*	RICTOR_ENST00000296782.5_Nonsense_Mutation_p.Y883*|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTAGTTGTCCATAAAGGTGTA	0.313																																																0													121	118	119					5																	38954924		2203	4300	6503	SO:0001587	stop_gained	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2649T>G	chr5.hg19:g.38954924A>C	ENSP00000349959:p.Tyr883*			Nonsense_Mutation	SNP	ENST00000357387.3	hg19	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	A	38	7.042770	0.98021	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	.	.	.	5.79	3.38	0.38709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3188	9.8756	0.41202	0.8005:0.0:0.1995:0.0	.	.	.	.	X	883	.	ENSP00000296782:Y883X	Y	-	3	2	RICTOR	38990681	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.863000	0.48396	0.449000	0.26747	0.477000	0.44152	TAT		0.313	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		C	38954924	A	C	38954924	4	2	638	1	0	0	0	0	0	1	0	0	13364	224	8	5	2525	5	RICTOR	5	38954924	Nonsense_Mutation	SNP	A	TCGA-EV-5902-01A-11D-1589-08	24483364	38954924	141960336	28	34716											
PIK3R1	5295	hgsc.bcm.edu	37	5	67588178	67588178	+	Silent	SNP	A	A	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:67588178A>G	ENST00000521381.1	+	8	1624	c.1008A>G	c.(1006-1008)ggA>ggG	p.G336G	PIK3R1_ENST00000320694.8_Silent_p.G36G|PIK3R1_ENST00000396611.1_Silent_p.G336G|PIK3R1_ENST00000274335.5_Silent_p.G336G|PIK3R1_ENST00000336483.5_Silent_p.G66G|PIK3R1_ENST00000521657.1_Silent_p.G336G|PIK3R1_ENST00000523872.1_5'Flank	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	336	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GGTACTGGGGAGATATCTCGA	0.393			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											153	143	146					5																	67588178		2203	4300	6503	SO:0001819	synonymous_variant	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1008A>G	chr5.hg19:g.67588178A>G			B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	ENST00000521381.1	hg19	CCDS3993.1																																																																																				0.393	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		G	67588178	A	G	67588178	2	3	638	1	0	0	0	0	0	0	0	1	11920	291	11	3		3	PIK3R1	5	67588178	Silent	SNP	A	TCGA-EV-5902-01A-11D-1589-08	28633254	67588178	113327082	29	34717											
PIK3R1	5295	hgsc.bcm.edu	37	5	67591286	67591286	+	Missense_Mutation	SNP	A	A	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:67591286A>T	ENST00000521381.1	+	14	2400	c.1784A>T	c.(1783-1785)aAc>aTc	p.N595I	PIK3R1_ENST00000320694.8_Missense_Mutation_p.N295I|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N595I|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N595I|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N325I|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N595I|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N232I	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	595					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAGAAGTTGAACGAGTGGTTG	0.368			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	7	Complex - deletion inframe(4)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	large_intestine(4)|lung(1)|ovary(1)|central_nervous_system(1)											152	156	155					5																	67591286		2203	4300	6503	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1784A>T	chr5.hg19:g.67591286A>T	ENSP00000428056:p.Asn595Ile		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	hg19	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.587453	0.86851	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.84	4.84	0.62591	.	0.042090	0.85682	D	0.000000	T	0.57257	0.2041	M	0.82923	2.615	0.80722	D	1	D;P;P;D	0.67145	0.991;0.811;0.901;0.996	P;P;P;D	0.67725	0.892;0.844;0.844;0.953	T	0.65084	-0.6254	10	0.87932	D	0	-28.7516	14.6086	0.68498	1.0:0.0:0.0:0.0	.	265;325;295;595	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	I	595;595;595;595;295;325;232	ENSP00000428056:N595I;ENSP00000429277:N595I;ENSP00000379855:N595I;ENSP00000274335:N595I;ENSP00000323512:N295I;ENSP00000338554:N325I;ENSP00000430098:N232I	ENSP00000274335:N595I	N	+	2	0	PIK3R1	67627042	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.087000	0.94110	2.036000	0.60181	0.377000	0.23210	AAC		0.368	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		T	67591286	A	T	67591286	3	4	638	1	0	0	0	0	1	0	0	0	11920	43	2	5	1964	5	PIK3R1	5	67591286	Missense_Mutation	SNP	A	TCGA-EV-5902-01A-11D-1589-08	3108	67591286	113323974	30	34718											
C5orf36	285600	hgsc.bcm.edu	37	5	93856355	93856362	+	Frame_Shift_Del	DEL	AAATTTTT	AAATTTTT	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	AAATTTTT	AAATTTTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:93856355_93856362delAAATTTTT	ENST00000329378.7	-	5	810_817	c.561_568delAAAAATTT	c.(559-570)caaaaaattttafs	p.QKIL187fs	KIAA0825_ENST00000513200.3_Frame_Shift_Del_p.QKIL187fs|KIAA0825_ENST00000427991.2_Frame_Shift_Del_p.QKIL187fs|KIAA0825_ENST00000312498.7_Frame_Shift_Del_p.QKIL187fs	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	187										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTTTCAATAAAATTTTTTGCTGTGAAT	0.322																																																0																																										SO:0001589	frameshift_variant	285600			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.561_568delAAAAATTT	chr5.hg19:g.93856355_93856362delAAATTTTT	ENSP00000331385:p.Gln187fs		O94914|Q6ZNN2	Frame_Shift_Del	DEL	ENST00000329378.7	hg19	CCDS4070.1																																																																																				0.322	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665		-	93856362	AAATTTTT	-	93856355	7	5	638	1	0	1	0	1	0	0	0	0	2297	11	1	0	3332	0	C5orf36	5	93856355	Frame_Shift_Del	DEL	AAATTTTT	TCGA-EV-5902-01A-11D-1589-08	26265069	93856355	87058905	31	34719											
ACSL6	23305	hgsc.bcm.edu	37	5	131324510	131324510	+	Missense_Mutation	SNP	T	T	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:131324510T>A	ENST00000379240.1	-	6	718	c.565A>T	c.(565-567)Atc>Ttc	p.I189F	ACSL6_ENST00000379255.1_Missense_Mutation_p.I154F|ACSL6_ENST00000379244.1_Missense_Mutation_p.I189F|ACSL6_ENST00000379249.3_Missense_Mutation_p.I189F|ACSL6_ENST00000431707.1_Missense_Mutation_p.I154F|ACSL6_ENST00000543479.1_Missense_Mutation_p.I189F|ACSL6_ENST00000379264.2_Missense_Mutation_p.I214F|ACSL6_ENST00000357096.1_Missense_Mutation_p.I154F|ACSL6_ENST00000379272.2_Missense_Mutation_p.I189F|ACSL6_ENST00000296869.4_Missense_Mutation_p.I214F|ACSL6_ENST00000379246.1_Missense_Mutation_p.I200F|ACSL6_ENST00000544770.1_Missense_Mutation_p.I98F			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	189					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTATTGATGATGTAGCGGATA	0.572																																																0													114	112	113					5																	131324510		2203	4300	6503	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.565A>T	chr5.hg19:g.131324510T>A	ENSP00000368542:p.Ile189Phe		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	hg19		.	.	.	.	.	.	.	.	.	.	T	20.8	4.053835	0.75960	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099;ENST00000430403	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.79	5.79	0.91817	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	H	0.98446	4.235	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.993;0.995;0.999;0.996;0.988;0.995;0.995	D	0.88843	0.3314	10	0.87932	D	0	.	16.1224	0.81369	0.0:0.0:0.0:1.0	.	189;189;179;189;154;214;214	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	F	189;214;189;154;154;214;200;189;98;189;154;189;154;189	ENSP00000368551:I189F;ENSP00000368566:I214F;ENSP00000368574:I189F;ENSP00000349608:I154F;ENSP00000368557:I154F;ENSP00000296869:I214F;ENSP00000368548:I200F;ENSP00000368546:I189F;ENSP00000445154:I98F;ENSP00000368542:I189F;ENSP00000413329:I154F;ENSP00000442124:I189F;ENSP00000397507:I154F;ENSP00000398423:I189F	ENSP00000296869:I214F	I	-	1	0	ACSL6	131352409	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	7.953000	0.87836	2.208000	0.71279	0.533000	0.62120	ATC		0.572	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		A	131324510	T	A	131324510	3	1	638	1	0	0	0	0	1	0	0	0	181	1464	51	5	1674	5	ACSL6	5	131324510	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08	37468155	131324510	49590750	32	34720											
MRPL22	29093	hgsc.bcm.edu	37	5	154330411	154330411	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:154330411delT	ENST00000523037.1	+	3	149	c.108delT	c.(106-108)agtfs	p.S36fs	MRPL22_ENST00000439747.3_Frame_Shift_Del_p.S62fs|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000522038.1_Frame_Shift_Del_p.S42fs	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	36					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCACACAAGTGCTTCTCTTG	0.398																																																0													124	122	123					5																	154330411		2203	4300	6503	SO:0001589	frameshift_variant	29093			AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"Mitochondrial ribosomal proteins / large subunits"	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.108delT	chr5.hg19:g.154330411delT	ENSP00000431040:p.Ser36fs		A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Frame_Shift_Del	DEL	ENST00000523037.1	hg19	CCDS4331.1																																																																																				0.398	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252508.2			-	154330411	T	-	154330411	7	5	638	1	0	1	0	1	0	0	0	0	9790	1693	59	0	118	0	MRPL22	5	154330411	Frame_Shift_Del	DEL	T	TCGA-EV-5902-01A-11D-1589-08	23005901	154330411	26584849	33	34721											
ATP10B	23120	hgsc.bcm.edu	37	5	160113261	160113262	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:160113261_160113262GG>TC	ENST00000327245.5	-	6	1140_1141	c.294_295CC>GA	c.(292-297)ttCCtg>ttGAtg	p.98_99FL>LM	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	98					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCAGGAACAGGAAATAGAGGT	0.45																																																0																																										SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.294_295delinsTC	chr5.hg19:g.160113261_160113262delinsTC	ENSP00000313600:p.F98_L99delinsLM		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	hg19	CCDS43394.1																																																																																				0.45	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		TC	160113262	GG	TC	160113261	3	4	638	1	0	0	0	0	1	0	0	0	1117	991	35	4	4174	4	ATP10B	5	160113261	Missense_Mutation	DNP	GG	TCGA-EV-5902-01A-11D-1589-08	5782850	160113261	20801999	34	34722											
BTNL8	79908	hgsc.bcm.edu	37	5	180374575	180374575	+	Missense_Mutation	SNP	G	G	A	rs371555886		TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:180374575G>A	ENST00000340184.4	+	4	943	c.737G>A	c.(736-738)gGc>gAc	p.G246D	BTNL8_ENST00000231229.4_Missense_Mutation_p.G246D|BTNL8_ENST00000511704.1_Missense_Mutation_p.G130D|BTNL8_ENST00000508408.1_Missense_Mutation_p.G246D|BTNL8_ENST00000505126.1_Missense_Mutation_p.G39D|BTNL8_ENST00000400707.3_Missense_Mutation_p.G121D|BTNL8_ENST00000533815.2_Missense_Mutation_p.G62D	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	246					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTGCTGTGGCCTATTTTTT	0.443																																																0								G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY	0,4406		0,0,2203	231	240	237		737,389,737,362,185,737	-2.9	0	5		237	1,8591	1.2+/-3.3	0,1,4295	yes	missense,missense,missense,missense,missense,missense	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_001159710.1,NM_024850.2	94,94,94,94,94,94	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	246/501,130/385,246/341,121/376,62/317,246/348	180374575	1,12997	2203	4296	6499	SO:0001583	missense	79908			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.737G>A	chr5.hg19:g.180374575G>A	ENSP00000342197:p.Gly246Asp		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	hg19	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	6.384	0.438919	0.12104	0.0	1.16E-4	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.61274	4.8;1.28;0.63;4.8;0.62;0.12;0.19	1.52	-2.87	0.05700	.	.	.	.	.	T	0.52224	0.1721	L	0.34521	1.04	0.09310	N	1	D;D;P;P;P	0.64830	0.982;0.994;0.808;0.808;0.838	P;P;B;B;B	0.59221	0.769;0.854;0.159;0.159;0.367	T	0.44034	-0.9354	9	0.35671	T	0.21	.	3.793	0.08728	0.0:0.2104:0.2868:0.5028	.	121;130;246;246;246	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	D	246;246;121;246;130;39;62	ENSP00000231229:G246D;ENSP00000342197:G246D;ENSP00000383543:G121D;ENSP00000424585:G246D;ENSP00000425207:G130D;ENSP00000427441:G39D;ENSP00000435098:G62D	ENSP00000231229:G246D	G	+	2	0	BTNL8	180307181	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.641000	0.05434	-0.893000	0.03930	0.436000	0.28706	GGC		0.443	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		A	180374575	G	A	180374575	3	1	638	1	0	0	0	0	1	0	0	0	1569	1203	42	2	777	2	BTNL8	5	180374575	Missense_Mutation	SNP	G	TCGA-EV-5902-01A-11D-1589-08	20261314	180374575	540685	35	34723											
MTCH1	23787	hgsc.bcm.edu	37	6	36949411	36949411	+	Missense_Mutation	SNP	T	T	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr6:36949411T>A	ENST00000373627.5	-	2	483	c.359A>T	c.(358-360)aAt>aTt	p.N120I	MTCH1_ENST00000373616.5_Missense_Mutation_p.N120I|MTCH1_ENST00000538808.1_Intron	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	120					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCCCAGCACATTGGTCCCAAG	0.562																																																0													59	52	54					6																	36949411		2203	4300	6503	SO:0001583	missense	23787			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"Solute carriers"	17586	protein-coding gene	gene with protein product	"solute carrier family 25, member 49"	610449	"mitochondrial carrier homolog 1 (C. elegans)"			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.359A>T	chr6.hg19:g.36949411T>A	ENSP00000362730:p.Asn120Ile		A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	hg19		.	.	.	.	.	.	.	.	.	.	T	19.24	3.788911	0.70337	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855;ENST00000373550;ENST00000460219	T;T;T	0.48201	0.82;0.82;0.82	4.87	2.42	0.29668	Mitochondrial carrier domain (2);	0.078934	0.49305	D	0.000154	T	0.43787	0.1263	L	0.49126	1.545	0.80722	D	1	D;D;D	0.69078	0.997;0.991;0.99	D;P;P	0.63597	0.916;0.843;0.891	T	0.45527	-0.9255	10	0.72032	D	0.01	-3.3591	7.5839	0.27980	0.0:0.1805:0.0:0.8195	.	102;120;120	Q8IW90;Q9NZJ7;Q9NZJ7-2	.;MTCH1_HUMAN;.	I	120;120;56;56;104	ENSP00000362718:N120I;ENSP00000362730:N120I;ENSP00000419739:N104I	ENSP00000338712:N56I	N	-	2	0	MTCH1	37057389	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	4.282000	0.58971	0.713000	0.32060	0.402000	0.26972	AAT		0.562	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		A	36949411	T	A	36949411	3	1	638	1	0	0	0	0	1	0	0	0	9915	1493	52	5	803	5	MTCH1	6	36949411	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08		36949411	134165656	36	34724											
SNX10	29887	hgsc.bcm.edu	37	7	26412183	26412200	+	Stop_Codon_Del	DEL	GGAATCCTGAAAAATAAT	GGAATCCTGAAAAATAAT	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	GGAATCCTGAAAAATAAT	GGAATCCTGAAAAATAAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr7:26412183_26412200delGGAATCCTGAAAAATAAT	ENST00000338523.4	+	0	784_801				SNX10_ENST00000409838.1_Stop_Codon_Del|SNX10_ENST00000396376.1_Stop_Codon_Del|AC004540.4_ENST00000451368.1_RNA|AC004540.4_ENST00000451264.1_RNA|SNX10_ENST00000409367.1_Stop_Codon_Del|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000446848.2_Stop_Codon_Del	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10						cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						CAGCTCCGCAGGAATCCTGAAAAATAATTCTAATGTTA	0.367																																																0																																										SO:0001567	stop_retained_variant	29887			AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"Sorting nexins"	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	Exception_encountered	chr7.hg19:g.26412183_26412200delGGAATCCTGAAAAATAAT			E9PFH5|Q8IYT5	Frame_Shift_Del	DEL	ENST00000338523.4	hg19	CCDS5399.1																																																																																				0.367	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			-	26412200	GGAATCCTGAAAAATAAT	-	26412183	7	5	638	1	0	1	0	1	0	0	0	0	14887	991	35	0	619	0	SNX10	7	26412183	Stop_Codon_Del	DEL	GGAATCCTGAAAAATAAT	TCGA-EV-5902-01A-11D-1589-08		26412183	132726480	37	34725											
GBAS	2631	hgsc.bcm.edu	37	7	56045954	56045955	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	AC	AC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr7:56045954_56045955delAC	ENST00000322090.3	+	2	257_258	c.228_229delAC	c.(226-231)ttacagfs	p.Q77fs	GBAS_ENST00000446778.1_Frame_Shift_Del_p.Q77fs|GBAS_ENST00000487370.1_3'UTR	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	77					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATACAAATTACAGTGTGAGTG	0.361																																																0																																										SO:0001589	frameshift_variant	2631			AF029786	CCDS5521.1, CCDS56488.1	7p12	2014-03-11			ENSG00000146729	ENSG00000146729			4179	protein-coding gene	gene with protein product		603004				9615231, 9661659, 20888800	Standard	NM_001483		Approved	NIPSNAP2	uc003tre.2	O75323	OTTHUMG00000022932	ENST00000322090.3:c.228_229delAC	chr7.hg19:g.56045954_56045955delAC	ENSP00000313050:p.Gln77fs		C9IYJ3|O43801|Q53X96	Frame_Shift_Del	DEL	ENST00000322090.3	hg19	CCDS5521.1																																																																																				0.361	GBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251524.1	NM_001483		-	56045955	AC	-	56045954	7	5	638	1	0	1	0	1	0	0	0	0	6271	388	14	0	234	0	GBAS	7	56045954	Frame_Shift_Del	DEL	AC	TCGA-EV-5902-01A-11D-1589-08	29633771	56045954	103092709	38	34726											
LRRN3	54674	hgsc.bcm.edu	37	7	110763780	110763780	+	Missense_Mutation	SNP	A	A	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr7:110763780A>G	ENST00000422987.3	+	2	1783	c.952A>G	c.(952-954)Aac>Gac	p.N318D	LRRN3_ENST00000451085.1_Missense_Mutation_p.N318D|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N318D|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	318					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGAAGCTACTAACAACCCTAG	0.418																																																0													85	88	87					7																	110763780		2203	4300	6503	SO:0001583	missense	54674			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.952A>G	chr7.hg19:g.110763780A>G	ENSP00000412417:p.Asn318Asp		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	hg19	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814302	0.70912	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.59083	0.29;0.29;0.29	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000002	T	0.63663	0.2530	N	0.20845	0.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.64351	-0.6428	10	0.37606	T	0.19	.	16.4311	0.83844	1.0:0.0:0.0:0.0	.	318	Q9H3W5	LRRN3_HUMAN	D	318	ENSP00000312001:N318D;ENSP00000397312:N318D;ENSP00000412417:N318D	ENSP00000312001:N318D	N	+	1	0	LRRN3	110551016	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	9.339000	0.96797	2.277000	0.76020	0.528000	0.53228	AAC		0.418	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		G	110763780	A	G	110763780	3	3	638	1	0	0	0	0	1	0	0	0	9038	362	13	3	954	3	LRRN3	7	110763780	Missense_Mutation	SNP	A	TCGA-EV-5902-01A-11D-1589-08	54717826	110763780	48374883	39	34727											
TNPO3	23534	hgsc.bcm.edu	37	7	128626935	128626935	+	Missense_Mutation	SNP	T	T	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr7:128626935T>A	ENST00000265388.5	-	12	1681	c.1538A>T	c.(1537-1539)aAg>aTg	p.K513M	TNPO3_ENST00000471166.1_Missense_Mutation_p.K547M|TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000482320.1_Missense_Mutation_p.K447M|TNPO3_ENST00000393245.1_Missense_Mutation_p.K547M			Q9Y5L0	TNPO3_HUMAN	transportin 3	513					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGCCAGGGGCTTTTCACACAG	0.453																																					Pancreas(147;583 2585 39696 52331)											0													79	81	80					7																	128626935		2203	4300	6503	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.1538A>T	chr7.hg19:g.128626935T>A	ENSP00000265388:p.Lys513Met		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	hg19	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118999	0.77323	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471166	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.154879	0.56097	D	0.000021	T	0.67924	0.2945	L	0.36672	1.1	0.48571	D	0.999679	D;P	0.63046	0.992;0.895	P;P	0.55999	0.789;0.497	T	0.70920	-0.4741	10	0.66056	D	0.02	-17.8899	10.4289	0.44395	0.0:0.0:0.1635:0.8365	.	547;513	C9J7E5;Q9Y5L0	.;TNPO3_HUMAN	M	547;513;447;547	ENSP00000376936:K547M;ENSP00000265388:K513M;ENSP00000420089:K447M;ENSP00000418267:K547M	ENSP00000265388:K513M	K	-	2	0	TNPO3	128414171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.677000	0.61634	2.279000	0.76181	0.533000	0.62120	AAG		0.453	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		A	128626935	T	A	128626935	3	1	638	1	0	0	0	0	1	0	0	0	16342	1609	56	5	1277	5	TNPO3	7	128626935	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08	17863155	128626935	30511728	40	34728											
STMN4	81551	hgsc.bcm.edu	37	8	27097566	27097566	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr8:27097566delT	ENST00000265770.7	-	5	568	c.432delA	c.(430-432)aaafs	p.K144fs	STMN4_ENST00000523048.1_Frame_Shift_Del_p.K171fs|STMN4_ENST00000519997.1_Frame_Shift_Del_p.K135fs|STMN4_ENST00000350889.4_Frame_Shift_Del_p.K171fs|STMN4_ENST00000519614.1_Frame_Shift_Del_p.K144fs|STMN4_ENST00000522908.1_Frame_Shift_Del_p.K171fs			Q9H169	STMN4_HUMAN	stathmin-like 4	144	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	TCTGGGCCAGTTTTTCCTTAG	0.517																																																0													233	213	220					8																	27097566		2203	4300	6503	SO:0001589	frameshift_variant	81551				CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.432delA	chr8.hg19:g.27097566delT	ENSP00000265770:p.Lys144fs		B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Frame_Shift_Del	DEL	ENST00000265770.7	hg19																																																																																					0.517	STMN4-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000375941.1	NM_030795		-	27097566	T	-	27097566	7	5	638	1	0	1	0	1	0	0	0	0	15316	1722	60	0	145	0	STMN4	8	27097566	Frame_Shift_Del	DEL	T	TCGA-EV-5902-01A-11D-1589-08		27097566	119266456	41	34729											
GBA2	57704	hgsc.bcm.edu	37	9	35739010	35739010	+	Missense_Mutation	SNP	A	A	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:35739010A>G	ENST00000378103.3	-	11	2307	c.1784T>C	c.(1783-1785)aTt>aCt	p.I595T	GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Missense_Mutation_p.I595T|GBA2_ENST00000545786.1_Missense_Mutation_p.I601T	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	595					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGTCCCCAATATCATGGGG	0.572																																																0													78	76	77					9																	35739010		2203	4300	6503	SO:0001583	missense	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1784T>C	chr9.hg19:g.35739010A>G	ENSP00000367343:p.Ile595Thr		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	hg19	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156258	0.57259	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.69	5.69	0.88448	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.259629	0.44285	D	0.000468	T	0.64571	0.2610	L	0.58101	1.795	0.80722	D	1	B;P;P	0.35493	0.449;0.493;0.505	B;B;B	0.41374	0.241;0.079;0.355	T	0.67518	-0.5650	9	0.62326	D	0.03	-8.062	14.5115	0.67791	1.0:0.0:0.0:0.0	.	601;595;595	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	T	595;595;601	.	ENSP00000367334:I595T	I	-	2	0	GBA2	35729010	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	8.924000	0.92827	2.171000	0.68590	0.459000	0.35465	ATT		0.572	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		G	35739010	A	G	35739010	3	3	638	1	0	0	0	0	1	0	0	0	6269	101	4	3	1027	3	GBA2	9	35739010	Missense_Mutation	SNP	A	TCGA-EV-5902-01A-11D-1589-08		35739010	105474421	42	34730											
ZNF169	169841	hgsc.bcm.edu	37	9	97063238	97063238	+	Silent	SNP	C	C	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:97063238C>T	ENST00000395395.2	+	5	1488	c.1398C>T	c.(1396-1398)ggC>ggT	p.G466G	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GTGGGCGTGGCTTTGGTCAGA	0.577																																																0													73	66	68					9																	97063238		2203	4300	6503	SO:0001819	synonymous_variant	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1398C>T	chr9.hg19:g.97063238C>T			A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	hg19	CCDS6709.2																																																																																				0.577	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		T	97063238	C	T	97063238	2	4	638	1	0	0	0	0	0	0	0	1	17747	784	28	2		2	ZNF169	9	97063238	Silent	SNP	C	TCGA-EV-5902-01A-11D-1589-08	61324228	97063238	44150193	43	34731											
C9orf84	158401	hgsc.bcm.edu	37	9	114503767	114503767	+	Missense_Mutation	SNP	A	A	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:114503767A>T	ENST00000318737.4	-	9	1099	c.971T>A	c.(970-972)tTt>tAt	p.F324Y	C9orf84_ENST00000374283.5_Missense_Mutation_p.F388Y|C9orf84_ENST00000374287.3_Missense_Mutation_p.F324Y|C9orf84_ENST00000394779.3_Missense_Mutation_p.F285Y|C9orf84_ENST00000394777.4_Missense_Mutation_p.F285Y	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	324										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTAAGCAAAAATGGGTTCAA	0.323																																																0													66	65	65					9																	114503767		2202	4299	6501	SO:0001583	missense	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.971T>A	chr9.hg19:g.114503767A>T	ENSP00000322108:p.Phe324Tyr		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	hg19	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869763	0.33069	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.56	3.41	0.39046	.	1.021630	0.07826	N	0.960679	T	0.46483	0.1395	L	0.32530	0.975	0.09310	N	1	P;P;P;P	0.45827	0.718;0.844;0.867;0.867	P;P;B;P	0.49829	0.447;0.528;0.439;0.623	T	0.32745	-0.9895	10	0.62326	D	0.03	-0.5524	6.8232	0.23868	0.8939:0.0:0.1061:0.0	.	285;388;324;285	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	Y	285;285;324;324;388	ENSP00000378259:F285Y;ENSP00000378257:F285Y;ENSP00000363405:F324Y;ENSP00000322108:F324Y;ENSP00000363401:F388Y	ENSP00000322108:F324Y	F	-	2	0	C9orf84	113543588	0.140000	0.22579	0.106000	0.21319	0.691000	0.40173	0.554000	0.23407	0.876000	0.35872	0.455000	0.32223	TTT		0.323	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		T	114503767	A	T	114503767	3	4	638	1	0	0	0	0	1	0	0	0	2502	14	1	5	3435	5	C9orf84	9	114503767	Missense_Mutation	SNP	A	TCGA-EV-5902-01A-11D-1589-08	17440529	114503767	26709664	44	34732											
AMBP	259	hgsc.bcm.edu	37	9	116837296	116837296	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:116837296delG	ENST00000265132.3	-	3	543	c.281delC	c.(280-282)acgfs	p.T94fs		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	94					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTCCAGACGTCTCCTCACA	0.453																																																0													143	125	131					9																	116837296		2203	4300	6503	SO:0001589	frameshift_variant	259			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.281delC	chr9.hg19:g.116837296delG	ENSP00000265132:p.Thr94fs		P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Frame_Shift_Del	DEL	ENST00000265132.3	hg19	CCDS6800.1																																																																																				0.453	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		-	116837296	G	-	116837296	7	5	638	1	0	1	0	1	0	0	0	0	564	1145	40	0	809	0	AMBP	9	116837296	Frame_Shift_Del	DEL	G	TCGA-EV-5902-01A-11D-1589-08	2333529	116837296	24376135	45	34733											
RABGAP1	23637	hgsc.bcm.edu	37	9	125772734	125772738	+	Frame_Shift_Del	DEL	TTCAG	TTCAG	-	rs201077208		TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	TTCAG	TTCAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:125772734_125772738delTTCAG	ENST00000373647.4	+	11	1610_1614	c.1476_1480delTTCAG	c.(1474-1482)ccttcagttfs	p.SV493fs		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	493					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CAGCCAGTCCTTCAGTTCGCCTGCC	0.4																																																0																																										SO:0001589	frameshift_variant	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1476_1480delTTCAG	chr9.hg19:g.125772734_125772738delTTCAG	ENSP00000362751:p.Ser493fs		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Frame_Shift_Del	DEL	ENST00000373647.4	hg19	CCDS6848.2																																																																																				0.4	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		-	125772738	TTCAG	-	125772734	7	5	638	1	0	1	0	1	0	0	0	0	12970	1596	56	0	1514	0	RABGAP1	9	125772734	Frame_Shift_Del	DEL	TTCAG	TCGA-EV-5902-01A-11D-1589-08	8935438	125772734	15440697	46	34734											
ZER1	10444	hgsc.bcm.edu	37	9	131515779	131515779	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:131515779delA	ENST00000291900.2	-	4	816	c.410delT	c.(409-411)ttcfs	p.F137fs	ZER1_ENST00000494461.1_5'UTR	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	137					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TGTACAGCCGAAGAGGCTCAA	0.557																																																0													54	57	56					9																	131515779		2203	4300	6503	SO:0001589	frameshift_variant	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.410delT	chr9.hg19:g.131515779delA	ENSP00000291900:p.Phe137fs		O00156|Q5T272|Q5T273	Frame_Shift_Del	DEL	ENST00000291900.2	hg19	CCDS6910.1																																																																																				0.557	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		-	131515779	A	-	131515779	7	5	638	1	0	1	0	1	0	0	0	0	17630	246	9	0	1942	0	ZER1	9	131515779	Frame_Shift_Del	DEL	A	TCGA-EV-5902-01A-11D-1589-08	5743045	131515779	9697652	47	34735											
TUBB2C	10383	hgsc.bcm.edu	37	9	140137389	140137389	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:140137389T>C	ENST00000340384.4	+	4	867	c.719T>C	c.(718-720)cTg>cCg	p.L240P		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	240					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	ACCACCTGCCTGCGCTTCCCA	0.592																																																0													30	31	31					9																	140137389		2200	4290	6490	SO:0001583	missense	10383			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"Tubulins"	20771	protein-coding gene	gene with protein product	"class IVb beta-tubulin"	602660	"tubulin, beta 2C"	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.719T>C	chr9.hg19:g.140137389T>C	ENSP00000341289:p.Leu240Pro		A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	hg19	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029097	0.54790	.	.	ENSG00000188229	ENST00000340384	T	0.71934	-0.61	5.57	5.57	0.84162	.	0.000000	0.53938	D	0.000043	D	0.91955	0.7452	H	0.99919	4.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95434	0.8519	10	0.87932	D	0	.	14.5794	0.68274	0.0:0.0:0.0:1.0	.	240	P68371	TBB4B_HUMAN	P	240	ENSP00000341289:L240P	ENSP00000341289:L240P	L	+	2	0	TUBB2C	139257210	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.111000	0.71541	2.122000	0.65172	0.533000	0.62120	CTG		0.592	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		C	140137389	T	C	140137389	3	2	638	1	0	0	0	0	1	0	0	0	16761	1580	55	3	733	3	TUBB2C	9	140137389	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08	8621610	140137389	1076042	48	34736											
ABLIM1	3983	hgsc.bcm.edu	37	10	116225561	116225561	+	Missense_Mutation	SNP	A	A	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr10:116225561A>G	ENST00000277895.5	-	12	1434	c.1337T>C	c.(1336-1338)aTg>aCg	p.M446T	ABLIM1_ENST00000392952.3_Missense_Mutation_p.M158T|ABLIM1_ENST00000369266.3_Missense_Mutation_p.M158T|ABLIM1_ENST00000533213.2_Missense_Mutation_p.M386T|ABLIM1_ENST00000369252.4_Missense_Mutation_p.M386T|ABLIM1_ENST00000369253.2_Missense_Mutation_p.M104T	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	446					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCGATGGATCATCCGATCCCG	0.557																																																0													215	192	200					10																	116225561		2203	4300	6503	SO:0001583	missense	3983			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1337T>C	chr10.hg19:g.116225561A>G	ENSP00000277895:p.Met446Thr		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	hg19	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.82|10.82	1.459451|1.459451	0.26248|0.26248	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253;ENST00000440467;ENST00000428430|ENST00000392955	T;T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55;0.55|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.318695|.	0.42548|.	D|.	0.000696|.	T|.	0.38295|.	0.1035|.	N|N	0.08118|0.08118	0|0	0.36815|0.36815	D|D	0.88611|0.88611	B;B;B;B;B;B;B;B;B|.	0.15930|.	0.0;0.002;0.015;0.0;0.0;0.001;0.001;0.0;0.002|.	B;B;B;B;B;B;B;B;B|.	0.22386|.	0.002;0.005;0.039;0.002;0.001;0.004;0.003;0.001;0.009|.	T|.	0.45745|.	-0.9240|.	10|.	0.15499|.	T|.	0.54|.	.|.	14.3083|14.3083	0.66397|0.66397	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	370;130;386;414;446;158;414;370;104|.	B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4|.	.;.;.;.;ABLM1_HUMAN;.;.;.;.|.	T|R	446;386;158;104;414;386;474;370;158;370;370;474;158;111;130|355	ENSP00000358256:M386T;ENSP00000376679:M158T;ENSP00000433629:M386T;ENSP00000358270:M158T;ENSP00000414154:M111T;ENSP00000400934:M130T|.	ENSP00000277895:M474T|.	M|X	-|-	2|1	0|0	ABLIM1|ABLIM1	116215551|116215551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.016000|6.016000	0.70798|0.70798	2.185000|2.185000	0.69588|0.69588	0.528000|0.528000	0.53228|0.53228	ATG|TGA		0.557	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			G	116225561	A	G	116225561	3	3	638	1	0	0	0	0	1	0	0	0	94	217	8	3	1043	3	ABLIM1	10	116225561	Missense_Mutation	SNP	A	TCGA-EV-5902-01A-11D-1589-08		116225561	19309186	49	34737											
TRIM22	10346	hgsc.bcm.edu	37	11	5717510	5717510	+	Silent	SNP	C	C	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr11:5717510C>T	ENST00000379965.3	+	2	325	c.48C>T	c.(46-48)ccC>ccT	p.P16P	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	16					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGACCTGCCCCATCTGCCTGG	0.502																																					GBM(104;491 2336 5222)											0													87	92	90					11																	5717510		2201	4297	6498	SO:0001819	synonymous_variant	10346			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.48C>T	chr11.hg19:g.5717510C>T			Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	hg19	CCDS41612.1																																																																																				0.502	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		T	5717510	C	T	5717510	2	4	638	1	0	0	0	0	0	0	0	1	16501	581	21	2		2	TRIM22	11	5717510	Silent	SNP	C	TCGA-EV-5902-01A-11D-1589-08		5717510	129289006	50	34738											
OR2AT4	341152	hgsc.bcm.edu	37	11	74800733	74800733	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr11:74800733G>A	ENST00000305159.3	-	1	66	c.26C>T	c.(25-27)tCa>tTa	p.S9L		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GCCATCCACTGATTCATTACA	0.473																																																0													50	52	51					11																	74800733		2200	4292	6492	SO:0001583	missense	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.26C>T	chr11.hg19:g.74800733G>A	ENSP00000304846:p.Ser9Leu		B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	hg19	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970843	0.53614	.	.	ENSG00000171561	ENST00000305159	T	0.54675	0.56	4.58	4.58	0.56647	.	0.000000	0.28241	U	0.016072	T	0.31702	0.0805	N	0.08118	0	0.36873	D	0.88902	P	0.49783	0.928	B	0.37601	0.254	T	0.51903	-0.8646	10	0.87932	D	0	.	15.2827	0.73801	0.0:0.0:1.0:0.0	.	9	A6NND4	O2AT4_HUMAN	L	9	ENSP00000304846:S9L	ENSP00000304846:S9L	S	-	2	0	OR2AT4	74478381	0.991000	0.36638	0.999000	0.59377	0.919000	0.55068	2.954000	0.49113	2.533000	0.85409	0.462000	0.41574	TCA		0.473	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		A	74800733	G	A	74800733	3	1	638	1	0	0	0	0	1	0	0	0	10989	1294	45	2	939	2	OR2AT4	11	74800733	Missense_Mutation	SNP	G	TCGA-EV-5902-01A-11D-1589-08	69083223	74800733	60205783	51	34739											
MYO7A	4647	hgsc.bcm.edu	37	11	76867021	76867021	+	Silent	SNP	C	C	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr11:76867021C>T	ENST00000409709.3	+	5	626	c.354C>T	c.(352-354)caC>caT	p.H118H	MYO7A_ENST00000409893.1_Silent_p.H118H|MYO7A_ENST00000458637.2_Silent_p.H118H|MYO7A_ENST00000409619.2_Silent_p.H107H	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	118	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CGCCAGAGCACATCCGCCAGT	0.562																																																0													35	39	38					11																	76867021		2139	4251	6390	SO:0001819	synonymous_variant	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.354C>T	chr11.hg19:g.76867021C>T			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	hg19	CCDS53683.1																																																																																				0.562	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		T	76867021	C	T	76867021	2	4	638	1	0	0	0	0	0	0	0	1	10084	477	17	2		2	MYO7A	11	76867021	Silent	SNP	C	TCGA-EV-5902-01A-11D-1589-08	2066288	76867021	58139495	52	34740											
CEP164	22897	hgsc.bcm.edu	37	11	117222658	117222658	+	Missense_Mutation	SNP	A	A	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr11:117222658A>G	ENST00000278935.3	+	5	494	c.347A>G	c.(346-348)aAg>aGg	p.K116R		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	116	Interaction with ATRIP.|Lys-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		aaaaaaaaaaaggaaaagaaa	0.502																																																0													33	34	34					11																	117222658		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.347A>G	chr11.hg19:g.117222658A>G	ENSP00000278935:p.Lys116Arg		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	hg19	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744661	0.49151	.	.	ENSG00000110274	ENST00000533153;ENST00000278935;ENST00000525416;ENST00000545330;ENST00000533570;ENST00000529538	T;T;T;T	0.76060	-0.34;-0.03;-0.29;-0.99	5.95	4.82	0.62117	.	0.243999	0.29172	N	0.012934	T	0.80221	0.4583	M	0.62723	1.935	0.34770	D	0.733632	D;P;B;D	0.56521	0.959;0.482;0.023;0.976	P;B;B;P	0.56960	0.65;0.11;0.01;0.81	D	0.85776	0.1358	10	0.62326	D	0.03	-27.2573	11.2799	0.49188	0.9276:0.0:0.0724:0.0	.	116;70;116;116	E9PI34;B7Z884;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	R	70;116;70;70;116;116	ENSP00000436034:K70R;ENSP00000278935:K116R;ENSP00000435759:K70R;ENSP00000431302:K116R	ENSP00000278935:K116R	K	+	2	0	CEP164	116727868	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.713000	0.91408	1.068000	0.40764	0.533000	0.62120	AAG		0.502	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		G	117222658	A	G	117222658	3	3	638	1	0	0	0	0	1	0	0	0	3251	72	3	3	357	3	CEP164	11	117222658	Missense_Mutation	SNP	A	TCGA-EV-5902-01A-11D-1589-08	40355637	117222658	17783858	53	34741											
C12orf26	84190	hgsc.bcm.edu	37	12	82752495	82752495	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr12:82752495G>A	ENST00000248306.3	+	1	220	c.151G>A	c.(151-153)Gtc>Atc	p.V51I	METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000548126.1_5'UTR|CCDC59_ENST00000256151.7_5'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	51							methyltransferase activity (GO:0008168)										GGAGGAGCTGGTCGACTTGCC	0.602											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													94	79	84					12																	82752495		2203	4300	6503	SO:0001583	missense	84190			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.151G>A	chr12.hg19:g.82752495G>A	ENSP00000248306:p.Val51Ile	1216	Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	hg19	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434382	0.43224	.	.	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.36340	1.26	5.49	1.42	0.22433	.	0.278728	0.40222	N	0.001147	T	0.25494	0.0620	L	0.44542	1.39	0.26395	N	0.976518	B	0.13145	0.007	B	0.15052	0.012	T	0.15378	-1.0439	10	0.29301	T	0.29	-2.0635	7.0129	0.24873	0.2126:0.1248:0.6626:0.0	.	51	Q8N6Q8	CL026_HUMAN	I	51	ENSP00000248306:V51I	ENSP00000248306:V51I	V	+	1	0	C12orf26	81276626	0.991000	0.36638	0.064000	0.19789	0.869000	0.49853	0.289000	0.18957	0.294000	0.22547	0.650000	0.86243	GTC		0.602	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		A	82752495	G	A	82752495	3	1	638	1	0	0	0	0	1	0	0	0	1681	1261	44	2	153	2	C12orf26	12	82752495	Missense_Mutation	SNP	G	TCGA-EV-5902-01A-11D-1589-08		82752495	51099400	54	34742											
C13orf23	80209	hgsc.bcm.edu	37	13	39587414	39587414	+	Missense_Mutation	SNP	C	C	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr13:39587414C>A	ENST00000352251.3	-	11	2808	c.1975G>T	c.(1975-1977)Gca>Tca	p.A659S	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.A637S	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	659	Ser-rich.																CCTGACAATGCAGGATTAAGG	0.478																																																0													131	122	125					13																	39587414		2203	4300	6503	SO:0001583	missense	80209			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1975G>T	chr13.hg19:g.39587414C>A	ENSP00000332034:p.Ala659Ser		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	hg19	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248685	0.22880	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.47528	0.84;0.84	5.27	2.55	0.30701	.	.	.	.	.	T	0.32793	0.0841	L	0.29908	0.895	0.09310	N	1	P;P	0.45531	0.86;0.775	B;B	0.38264	0.269;0.197	T	0.05971	-1.0853	8	.	.	.	-13.5541	10.4949	0.44772	0.0:0.7738:0.0:0.2262	.	637;659	A6NJ97;Q86XN7	.;PRSR1_HUMAN	S	659;637	ENSP00000332034:A659S;ENSP00000339123:A637S	.	A	-	1	0	PROSER1	38485414	0.982000	0.34865	0.377000	0.26055	0.533000	0.34776	2.976000	0.49289	0.711000	0.32018	0.561000	0.74099	GCA		0.478	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		A	39587414	C	A	39587414	3	1	638	1	0	0	0	0	1	0	0	0	1723	710	25	4	871	4	C13orf23	13	39587414	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08		39587414	75582464	55	34743											
ZC3H13	23091	hgsc.bcm.edu	37	13	46543501	46543502	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr13:46543501_46543502insT	ENST00000242848.4	-	14	3525_3526	c.3177_3178insA	c.(3175-3180)aaagaafs	p.E1060fs	ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.E1060fs|ZC3H13_ENST00000378921.2_Frame_Shift_Ins_p.E16fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1060							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GCTGTATCTTCTTTTTTCTGGG	0.475																																					Esophageal Squamous(187;747 2077 11056 31291 44172)											0																																										SO:0001589	frameshift_variant	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3178dupA	chr13.hg19:g.46543507_46543507dupT	ENSP00000242848:p.Glu1060fs		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Ins	INS	ENST00000242848.4	hg19																																																																																					0.475	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		T	46543502	-	T	46543501	7	5	638	1	0	1	1	0	0	0	0	0	17570	922	32	0	1532	0	ZC3H13	13	46543501	Frame_Shift_Ins	INS	-	TCGA-EV-5902-01A-11D-1589-08	6956087	46543501	68626377	56	34744											
MYCBP2	23077	hgsc.bcm.edu	37	13	77799654	77799654	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr13:77799654T>C	ENST00000544440.2	-	19	2676	c.2659A>G	c.(2659-2661)Aaa>Gaa	p.K887E	MYCBP2_ENST00000357337.6_Missense_Mutation_p.K887E|MYCBP2_ENST00000407578.2_Missense_Mutation_p.K925E|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTTGTGATTTTGCTTGCATCC	0.413																																																0													215	181	192					13																	77799654		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2659A>G	chr13.hg19:g.77799654T>C	ENSP00000444596:p.Lys887Glu			Missense_Mutation	SNP	ENST00000544440.2	hg19		.	.	.	.	.	.	.	.	.	.	T	21.8	4.197089	0.79015	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28666	1.61;1.6;1.61	5.96	5.96	0.96718	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	L	0.34521	1.04	0.58432	D	0.999998	P	0.52842	0.956	D	0.65010	0.931	T	0.38156	-0.9674	10	0.66056	D	0.02	.	16.4381	0.83884	0.0:0.0:0.0:1.0	.	887	O75592	MYCB2_HUMAN	E	887;925;887	ENSP00000349892:K887E;ENSP00000384288:K925E;ENSP00000444596:K887E	ENSP00000349892:K887E	K	-	1	0	MYCBP2	76697655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.679000	0.84048	2.280000	0.76307	0.533000	0.62120	AAA		0.413	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		C	77799654	T	C	77799654	3	2	638	1	0	0	0	0	1	0	0	0	10020	1821	63	3	11523	3	MYCBP2	13	77799654	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08	31256153	77799654	37370224	57	34745											
IRF9	10379	hgsc.bcm.edu	37	14	24632332	24632332	+	Missense_Mutation	SNP	A	A	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr14:24632332A>G	ENST00000396864.3	+	3	625	c.338A>G	c.(337-339)cAg>cGg	p.Q113R	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.Q11R	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	113					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AAGGTGTATCAGTTGCTGCCA	0.547																																																0													105	102	103					14																	24632332		2203	4300	6503	SO:0001583	missense	10379			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.338A>G	chr14.hg19:g.24632332A>G	ENSP00000380073:p.Gln113Arg		D3DS61	Missense_Mutation	SNP	ENST00000396864.3	hg19	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	a	2.120	-0.401642	0.04865	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.97505	-4.32;-4.41	5.17	4.29	0.51040	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.000000	0.64402	N	0.000009	D	0.84442	0.5473	N	0.00358	-1.6	0.36264	D	0.854711	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.82151	-0.0599	10	0.02654	T	1	-15.5634	12.9684	0.58499	0.0804:0.0:0.9196:0.0	.	113;113	B4DI86;Q00978	.;IRF9_HUMAN	R	113;43	ENSP00000380073:Q113R;ENSP00000313529:Q43R	ENSP00000313529:Q43R	Q	+	2	0	IRF9	23702172	1.000000	0.71417	0.991000	0.47740	0.262000	0.26303	3.274000	0.51631	1.184000	0.42957	-0.146000	0.13790	CAG		0.547	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			G	24632332	A	G	24632332	3	3	638	1	0	0	0	0	1	0	0	0	7839	188	7	3	344	3	IRF9	14	24632332	Missense_Mutation	SNP	A	TCGA-EV-5902-01A-11D-1589-08		24632332	82717208	58	34746											
MBIP	51562	hgsc.bcm.edu	37	14	36770005	36770006	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr14:36770005_36770006insT	ENST00000416007.4	-	8	999_1000	c.912_913insA	c.(910-915)aaagttfs	p.V305fs	MBIP_ENST00000318473.7_Frame_Shift_Ins_p.V305fs|MBIP_ENST00000359527.7_Frame_Shift_Ins_p.S272fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	305	Interaction with MAP3K12.				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)		GGTGGTTGAACTTTTCTTCTTT	0.243																																																0																																										SO:0001589	frameshift_variant	51562			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.913dupA	chr14.hg19:g.36770009_36770009dupT	ENSP00000399718:p.Val305fs		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Frame_Shift_Ins	INS	ENST00000416007.4	hg19	CCDS9658.1																																																																																				0.243	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		T	36770006	-	T	36770005	7	5	638	1	0	1	1	0	0	0	0	0	9351	565	20	0	129	0	MBIP	14	36770005	Frame_Shift_Ins	INS	-	TCGA-EV-5902-01A-11D-1589-08	12137673	36770005	70579535	59	34747											
FERMT2	10979	hgsc.bcm.edu	37	14	53360052	53360052	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr14:53360052T>C	ENST00000395631.2	-	4	701	c.485A>G	c.(484-486)gAg>gGg	p.E162G	FERMT2_ENST00000341590.3_Missense_Mutation_p.E162G|FERMT2_ENST00000553373.1_Missense_Mutation_p.E162G|FERMT2_ENST00000343279.4_Missense_Mutation_p.E162G|FERMT2_ENST00000399304.3_Missense_Mutation_p.E162G			Q96AC1	FERM2_HUMAN	fermitin family member 2	162					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTCAAGTGCCTCATCTTCAGA	0.413																																																0													137	135	136					14																	53360052		2203	4300	6503	SO:0001583	missense	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.485A>G	chr14.hg19:g.53360052T>C	ENSP00000378993:p.Glu162Gly		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	hg19	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518696	0.44763	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000554288;ENST00000555692	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.84;0.82;0.82;0.82;1.41	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);	0.051253	0.85682	D	0.000000	T	0.36082	0.0954	N	0.14661	0.345	0.51482	D	0.999927	B;B;B	0.26602	0.043;0.154;0.01	B;B;B	0.34038	0.087;0.174;0.099	T	0.18618	-1.0331	10	0.24483	T	0.36	.	16.0828	0.81017	0.0:0.0:0.0:1.0	.	162;162;162	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	G	162;162;104;162;162;162;57;118	ENSP00000378993:E162G;ENSP00000340391:E162G;ENSP00000450741:E104G;ENSP00000342858:E162G;ENSP00000451084:E162G;ENSP00000382243:E162G;ENSP00000451268:E57G	ENSP00000340391:E162G	E	-	2	0	FERMT2	52429802	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.957000	0.70323	2.199000	0.70637	0.528000	0.53228	GAG		0.413	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		C	53360052	T	C	53360052	3	2	638	1	0	0	0	0	1	0	0	0	5820	1551	54	3	1642	3	FERMT2	14	53360052	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08	16590047	53360052	53989488	60	34748											
CRAMP1L	57585	hgsc.bcm.edu	37	16	1718163	1718163	+	Silent	SNP	C	C	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr16:1718163C>T	ENST00000397412.3	+	18	3402	c.3303C>T	c.(3301-3303)atC>atT	p.I1101I	CRAMP1L_ENST00000436138.3_Silent_p.I1098I|CRAMP1L_ENST00000293925.5_Silent_p.I1101I|CRAMP1L_ENST00000262317.4_Silent_p.I479I|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1101	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCGACTCCATCATTGAGATCG	0.607																																																0													64	65	65					16																	1718163		2165	4268	6433	SO:0001819	synonymous_variant	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3303C>T	chr16.hg19:g.1718163C>T			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	hg19	CCDS10440.2																																																																																				0.607	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			T	1718163	C	T	1718163	2	4	638	1	0	0	0	0	0	0	0	1	3848	816	29	2		2	CRAMP1L	16	1718163	Silent	SNP	C	TCGA-EV-5902-01A-11D-1589-08		1718163	88636590	61	34749											
RPGRIP1L	23322	hgsc.bcm.edu	37	16	53636027	53636027	+	Missense_Mutation	SNP	C	C	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr16:53636027C>A	ENST00000379925.3	-	27	3959	c.3909G>T	c.(3907-3909)caG>caT	p.Q1303H	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.Q1223H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.Q1269H	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1303					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGTAGACAGACTGGAGGGCAT	0.468																																																0													115	94	101					16																	53636027		2198	4300	6498	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3909G>T	chr16.hg19:g.53636027C>A	ENSP00000369257:p.Gln1303His		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	hg19	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	0.956	-0.704864	0.03255	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.63913	-0.07;-0.07	5.86	2.79	0.32731	.	0.807726	0.11522	N	0.555606	T	0.33527	0.0866	N	0.08118	0	0.80722	D	1	B;P;P	0.38250	0.13;0.49;0.624	B;B;B	0.31812	0.136;0.136;0.129	T	0.14671	-1.0464	10	0.46703	T	0.11	-0.5926	2.457	0.04532	0.1189:0.437:0.269:0.175	.	1257;1303;1223	B7ZKJ9;Q68CZ1;Q68CZ1-2	.;FTM_HUMAN;.	H	1303;1223	ENSP00000369257:Q1303H;ENSP00000262135:Q1223H	ENSP00000262135:Q1223H	Q	-	3	2	RPGRIP1L	52193528	0.184000	0.23200	0.813000	0.32504	0.392000	0.30506	0.388000	0.20735	0.840000	0.34995	-0.142000	0.14014	CAG		0.468	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		A	53636027	C	A	53636027	3	1	638	1	0	0	0	0	1	0	0	0	13556	564	20	4	42	4	RPGRIP1L	16	53636027	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08	51917864	53636027	36718726	62	34750											
ELMO3	79767	hgsc.bcm.edu	37	16	67236330	67236330	+	Missense_Mutation	SNP	T	T	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr16:67236330T>G	ENST00000360833.1	+	13	1457	c.1400T>G	c.(1399-1401)aTg>aGg	p.M467R	ELMO3_ENST00000393997.2_Missense_Mutation_p.M484R|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Missense_Mutation_p.M318R			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	431	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTCTCACCCATGTTCTTCGGC	0.597																																																0													84	86	85					16																	67236330		2198	4300	6498	SO:0001583	missense	79767				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"Engulfment and cell motility proteins"	17289	protein-coding gene	gene with protein product		606422	"engulfment and cell motility 3 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1400T>G	chr16.hg19:g.67236330T>G	ENSP00000354077:p.Met467Arg		B4DV86|Q9H8A5	Missense_Mutation	SNP	ENST00000360833.1	hg19		.	.	.	.	.	.	.	.	.	.	T	17.46	3.395742	0.62177	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.29397	1.57;1.57	5.66	5.66	0.87406	Engulfment/cell motility, ELMO (2);	0.165679	0.64402	D	0.000003	T	0.42131	0.1189	M	0.67397	2.05	0.80722	D	1	P;D;D	0.55172	0.822;0.97;0.97	P;P;P	0.48552	0.577;0.581;0.581	T	0.44174	-0.9345	10	0.87932	D	0	-28.916	14.7211	0.69308	0.0:0.0:0.0:1.0	.	431;467;484	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	R	467;484	ENSP00000354077:M467R;ENSP00000377566:M484R	ENSP00000354077:M467R	M	+	2	0	ELMO3	65793831	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	8.040000	0.89188	2.160000	0.67779	0.533000	0.62120	ATG		0.597	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		G	67236330	T	G	67236330	3	3	638	1	0	0	0	0	1	0	0	0	5069	1464	51	5	1505	5	ELMO3	16	67236330	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08	13600303	67236330	23118423	63	34751											
CNTNAP4	85445	hgsc.bcm.edu	37	16	76587277	76587278	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr16:76587277_76587278insGC	ENST00000476707.1	+	21	3688_3689	c.3549_3550insGC	c.(3550-3552)gcafs	p.A1184fs	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Frame_Shift_Ins_p.A1180fs|CNTNAP4_ENST00000478060.1_Frame_Shift_Ins_p.A1108fs|RP11-58C22.1_ENST00000563764.1_5'Flank|CNTNAP4_ENST00000377504.4_Frame_Shift_Ins_p.A1132fs			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1181	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCCCTCTGAAGGCAGCTCTGCA	0.604																																																0																																										SO:0001589	frameshift_variant	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3550_3551dupGC	chr16.hg19:g.76587278_76587279dupGC	ENSP00000417628:p.Ala1184fs		E9PFZ6|Q86YZ7	Frame_Shift_Ins	INS	ENST00000476707.1	hg19																																																																																					0.604	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		GC	76587278	-	GC	76587277	7	5	638	1	0	1	1	0	0	0	0	0	3651	991	35	0	3639	0	CNTNAP4	16	76587277	Frame_Shift_Ins	INS	-	TCGA-EV-5902-01A-11D-1589-08	9350947	76587277	13767476	64	34752											
CDK5RAP3	80279	hgsc.bcm.edu	37	17	46051766	46051766	+	Splice_Site	SNP	G	G	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr17:46051766G>A	ENST00000338399.4	+	5	392	c.286G>A	c.(286-288)Gat>Aat	p.D96N	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Splice_Site_p.D121N	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	96					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TCTTACTCAGGATTGGCAGGA	0.493																																																0													171	171	171					17																	46051766		1981	4164	6145	SO:0001630	splice_region_variant	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.286-1G>A	chr17.hg19:g.46051766G>A			B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	hg19	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898300	0.91962	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.54866	0.55;0.55	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.90977	3.165	0.80722	D	1	B	0.31241	0.315	B	0.35312	0.2	T	0.68511	-0.5389	9	.	.	.	-8.6694	18.4593	0.90732	0.0:0.0:1.0:0.0	.	96	Q96JB5	CK5P3_HUMAN	N	121;96	ENSP00000438886:D121N;ENSP00000344683:D96N	.	D	+	1	0	CDK5RAP3	43406765	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.231000	0.95317	2.670000	0.90874	0.655000	0.94253	GAT		0.493	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	Missense_Mutation	A	46051766	G	A	46051766	5	1	638	1	0	0	0	0	0	0	1	0	3149	1188	41	2	304	2	CDK5RAP3	17	46051766	Splice_Site	SNP	G	TCGA-EV-5902-01A-11D-1589-08		46051766	35143444	65	34753											
APPBP2	10513	hgsc.bcm.edu	37	17	58525181	58525181	+	Missense_Mutation	SNP	C	C	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr17:58525181C>A	ENST00000083182.3	-	13	1806	c.1519G>T	c.(1519-1521)Ggt>Tgt	p.G507C		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	507					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TAGCCCTCACCAAAAAGTTTC	0.308																																																0													55	57	56					17																	58525181		2203	4300	6503	SO:0001583	missense	10513			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1519G>T	chr17.hg19:g.58525181C>A	ENSP00000083182:p.Gly507Cys		A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	hg19	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611670	0.66558	.	.	ENSG00000062725	ENST00000083182	D	0.90385	-2.66	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95322	0.8421	10	0.87932	D	0	-12.3778	19.4753	0.94985	0.0:1.0:0.0:0.0	.	507	Q92624	APBP2_HUMAN	C	507	ENSP00000083182:G507C	ENSP00000083182:G507C	G	-	1	0	APPBP2	55879963	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.453000	0.80700	2.611000	0.88343	0.650000	0.86243	GGT		0.308	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		A	58525181	C	A	58525181	3	1	638	1	0	0	0	0	1	0	0	0	816	594	21	4	242	4	APPBP2	17	58525181	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08	12473415	58525181	22670029	66	34754											
KIAA1012	22878	hgsc.bcm.edu	37	18	29488737	29488737	+	Missense_Mutation	SNP	T	T	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr18:29488737T>G	ENST00000283351.4	-	7	1437	c.1102A>C	c.(1102-1104)Att>Ctt	p.I368L	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.I314L|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.I368L	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	368					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATTGCCTAATTGTTTTCTCT	0.284																																																0													45	43	44					18																	29488737		2203	4297	6500	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1102A>C	chr18.hg19:g.29488737T>G	ENSP00000283351:p.Ile368Leu		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	hg19	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211203	0.39102	.	.	ENSG00000153339	ENST00000283351	T	0.19806	2.12	5.7	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.39147	1.195	0.53005	D	0.99996	P;D	0.55605	0.655;0.972	P;P	0.56216	0.557;0.794	T	0.01228	-1.1412	10	0.23302	T	0.38	.	11.1138	0.48249	0.0:0.0717:0.0:0.9283	.	368;368	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	L	368	ENSP00000283351:I368L	ENSP00000283351:I368L	I	-	1	0	TRAPPC8	27742735	1.000000	0.71417	0.998000	0.56505	0.710000	0.40934	7.231000	0.78106	2.181000	0.69327	0.459000	0.35465	ATT		0.284	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		G	29488737	T	G	29488737	3	3	638	1	0	0	0	0	1	0	0	0	8206	1493	52	5	3297	5	KIAA1012	18	29488737	Missense_Mutation	SNP	T	TCGA-EV-5902-01A-11D-1589-08		29488737	48588511	67	34755											
CNDP2	55748	hgsc.bcm.edu	37	18	72179734	72179734	+	Missense_Mutation	SNP	C	C	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr18:72179734C>A	ENST00000324262.4	+	7	1025	c.709C>A	c.(709-711)Cat>Aat	p.H237N	CNDP2_ENST00000324301.8_Missense_Mutation_p.H153N|CNDP2_ENST00000579847.1_Missense_Mutation_p.H237N	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	237					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGGCTCGGTGCATGAGGCCAT	0.562																																																0													255	196	216					18																	72179734		2203	4300	6503	SO:0001583	missense	55748			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.709C>A	chr18.hg19:g.72179734C>A	ENSP00000325548:p.His237Asn		B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	hg19	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100562	0.37048	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.56776	0.44;0.44	5.14	3.33	0.38152	Peptidase M20, dimerisation (1);	0.047588	0.85682	D	0.000000	T	0.59582	0.2204	M	0.73962	2.25	0.80722	D	1	B;B;B	0.25743	0.133;0.021;0.002	B;B;B	0.40410	0.328;0.267;0.084	T	0.59757	-0.7394	10	0.38643	T	0.18	-19.4529	11.6458	0.51261	0.0:0.8542:0.0:0.1458	.	142;153;237	B4DPF1;Q96KP4-2;Q96KP4	.;.;CNDP2_HUMAN	N	237;153	ENSP00000325548:H237N;ENSP00000325756:H153N	ENSP00000325548:H237N	H	+	1	0	CNDP2	70330714	0.989000	0.36119	0.949000	0.38748	0.779000	0.44077	1.712000	0.37940	1.169000	0.42739	0.655000	0.94253	CAT		0.562	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		A	72179734	C	A	72179734	3	1	638	1	0	0	0	0	1	0	0	0	3596	710	25	4	731	4	CNDP2	18	72179734	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08	42690997	72179734	5897514	68	34756											
ZNF236	7776	hgsc.bcm.edu	37	18	74561610	74561610	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr18:74561610G>A	ENST00000253159.8	+	2	376	c.178G>A	c.(178-180)Gag>Aag	p.E60K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E62K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	60					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGGATCACGAGCGAAATGA	0.358																																																0													65	62	63					18																	74561610		1875	4104	5979	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.178G>A	chr18.hg19:g.74561610G>A	ENSP00000253159:p.Glu60Lys		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	hg19	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244485	0.79912	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.16743	2.32;2.32	5.65	5.65	0.86999	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.20483	0.58	0.46725	D	0.999171	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.766	T	0.05305	-1.0893	10	0.20519	T	0.43	.	19.7319	0.96186	0.0:0.0:1.0:0.0	.	60;60	Q9NWI2;Q9UL36	.;ZN236_HUMAN	K	60	ENSP00000253159:E60K;ENSP00000444524:E60K	ENSP00000253159:E60K	E	+	1	0	ZNF236	72690598	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.692000	0.68256	2.668000	0.90789	0.655000	0.94253	GAG		0.358	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			A	74561610	G	A	74561610	3	1	638	1	0	0	0	0	1	0	0	0	17794	1059	37	1	184	1	ZNF236	18	74561610	Missense_Mutation	SNP	G	TCGA-EV-5902-01A-11D-1589-08	2381876	74561610	3515638	69	34757											
MYO1F	4542	hgsc.bcm.edu	37	19	8609279	8609279	+	Missense_Mutation	SNP	C	C	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr19:8609279C>A	ENST00000338257.8	-	14	1693	c.1426G>T	c.(1426-1428)Gac>Tac	p.D476Y	AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	476	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGTGTCTGGTCTGCTCCCCCG	0.677																																																0													22	31	28					19																	8609279		2096	4212	6308	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1426G>T	chr19.hg19:g.8609279C>A	ENSP00000344871:p.Asp476Tyr		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	hg19	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.009105	0.75046	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.92099	-2.97	3.49	3.49	0.39957	Myosin head, motor domain (2);	0.133964	0.47455	U	0.000236	D	0.97081	0.9046	H	0.96576	3.845	0.80722	D	1	D	0.58620	0.983	D	0.67725	0.953	D	0.98150	1.0441	10	0.87932	D	0	.	13.73	0.62781	0.0:1.0:0.0:0.0	.	476	O00160	MYO1F_HUMAN	Y	521;476	ENSP00000344871:D476Y	ENSP00000304899:D521Y	D	-	1	0	MYO1F	8515279	1.000000	0.71417	0.989000	0.46669	0.860000	0.49131	5.743000	0.68655	1.781000	0.52344	0.290000	0.19541	GAC		0.677	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			A	8609279	C	A	8609279	3	1	638	1	0	0	0	0	1	0	0	0	10075	913	32	4	1930	4	MYO1F	19	8609279	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08		8609279	50519704	70	34758											
CACNA1A	773	hgsc.bcm.edu	37	19	13397703	13397703	+	Missense_Mutation	SNP	C	C	T	rs200850308		TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr19:13397703C>T	ENST00000360228.5	-	20	3166	c.3167G>A	c.(3166-3168)cGc>cAc	p.R1056H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1057H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1057					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGGTCTTGGCGGCCCAGGTC	0.642																																																0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3700		0,0,1850	19	22	21		3179,3170,3167,3170,3179	5.2	1	19		21	1,8013		0,1,4006	yes	missense,missense,missense,missense,missense	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	29,29,29,29,29	0,1,5856	TT,TC,CC		0.0125,0.0,0.0085	benign,benign,benign,benign,benign	1060/2267,1057/2262,1056/2507,1057/2264,1060/2513	13397703	1,11713	1850	4007	5857	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3167G>A	chr19.hg19:g.13397703C>T	ENSP00000353362:p.Arg1056His		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754278	0.49362	0.0	1.25E-4	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96168	-3.93	5.19	5.19	0.71726	.	0.663946	0.14837	N	0.295520	D	0.95108	0.8415	L	0.43152	1.355	0.42961	D	0.9944	B;B;D	0.65815	0.343;0.239;0.995	B;B;P	0.51016	0.021;0.034;0.656	D	0.94508	0.7716	10	0.44086	T	0.13	.	17.4837	0.87682	0.0:1.0:0.0:0.0	.	1057;1060;1056	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	H	1056;1060;1057;1057	ENSP00000353362:R1056H	ENSP00000317661:R1057H	R	-	2	0	CACNA1A	13258703	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.265000	0.51561	2.427000	0.82271	0.555000	0.69702	CGC		0.642	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		T	13397703	C	T	13397703	3	4	638	1	0	0	0	0	1	0	0	0	2540	768	27	1	4567	1	CACNA1A	19	13397703	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08	4788424	13397703	45731280	71	34759											
ZNF780B	163131	hgsc.bcm.edu	37	19	40541550	40541550	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr19:40541550G>T	ENST00000434248.1	-	5	1281	c.1216C>A	c.(1216-1218)Caa>Aaa	p.Q406K	ZNF780B_ENST00000221355.6_Missense_Mutation_p.Q258K	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCTGGTGTTGAATAAGGTTT	0.358																																																0													100	107	105					19																	40541550		2203	4300	6503	SO:0001583	missense	163131			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1216C>A	chr19.hg19:g.40541550G>T	ENSP00000391641:p.Gln406Lys		B9EH00	Missense_Mutation	SNP	ENST00000434248.1	hg19	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	G	1.025	-0.683570	0.03353	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.35048	1.33;1.33	2.29	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21307	0.0513	N	0.01081	-1.03	0.09310	N	1	D	0.57571	0.98	D	0.69824	0.966	T	0.17930	-1.0353	9	0.05833	T	0.94	.	8.391	0.32528	0.0:0.2421:0.7579:0.0	.	406	Q9Y6R6	Z780B_HUMAN	K	406;258	ENSP00000391641:Q406K;ENSP00000221355:Q258K	ENSP00000221355:Q258K	Q	-	1	0	ZNF780B	45233390	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	-5.529000	0.00115	1.103000	0.41568	0.313000	0.20887	CAA		0.358	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		T	40541550	G	T	40541550	3	4	638	1	0	0	0	0	1	0	0	0	18158	1299	45	4	1289	4	ZNF780B	19	40541550	Missense_Mutation	SNP	G	TCGA-EV-5902-01A-11D-1589-08	27143847	40541550	18587433	72	34760											
ZNF320	162967	hgsc.bcm.edu	37	19	53384942	53384942	+	Missense_Mutation	SNP	A	A	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr19:53384942A>G	ENST00000595635.1	-	8	938	c.437T>C	c.(436-438)tTg>tCg	p.L146S	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.L146S|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCGCAAATGCAAATGAAATCT	0.348																																																0													117	113	114					19																	53384942		2203	4300	6503	SO:0001583	missense	162967			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.437T>C	chr19.hg19:g.53384942A>G	ENSP00000473091:p.Leu146Ser		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	hg19	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.115473	0.00349	.	.	ENSG00000182986	ENST00000391781	T	0.12361	2.69	1.39	0.0569	0.14321	.	.	.	.	.	T	0.04998	0.0134	N	0.11427	0.14	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.43245	-0.9403	9	0.02654	T	1	.	5.4228	0.16409	0.2247:0.0:0.7753:0.0	.	146	A2RRD8	ZN320_HUMAN	S	146	ENSP00000375660:L146S	ENSP00000375660:L146S	L	-	2	0	ZNF320	58076754	0.000000	0.05858	0.001000	0.08648	0.155000	0.21991	-0.162000	0.10012	-0.124000	0.11724	0.163000	0.16589	TTG		0.348	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		G	53384942	A	G	53384942	3	3	638	1	0	0	0	0	1	0	0	0	17844	131	5	3	1096	3	ZNF320	19	53384942	Missense_Mutation	SNP	A	TCGA-EV-5902-01A-11D-1589-08	12843392	53384942	5744041	73	34761											
NCAM2	4685	hgsc.bcm.edu	37	21	22656582	22656582	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr21:22656582G>T	ENST00000400546.1	+	3	448	c.199G>T	c.(199-201)Gta>Tta	p.V67L	NCAM2_ENST00000535285.1_Missense_Mutation_p.V92L|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	67	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AACACAGAGGGTAGTAGTGCA	0.398																																																0													132	122	125					21																	22656582		1859	4101	5960	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.199G>T	chr21.hg19:g.22656582G>T	ENSP00000383392:p.Val67Leu		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	hg19	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109633	0.37242	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.67345	-0.26;-0.26	5.58	4.7	0.59300	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104866	0.64402	D	0.000003	T	0.57562	0.2062	L	0.37630	1.12	0.29058	N	0.884114	P;D	0.56968	0.799;0.978	B;P	0.44447	0.251;0.45	T	0.54510	-0.8283	10	0.09338	T	0.73	-17.3832	16.3191	0.82939	0.0715:0.0:0.9285:0.0	.	92;67	B7Z841;O15394	.;NCAM2_HUMAN	L	67;92	ENSP00000383392:V67L;ENSP00000441887:V92L	ENSP00000383392:V67L	V	+	1	0	NCAM2	21578453	1.000000	0.71417	0.498000	0.27564	0.836000	0.47400	3.223000	0.51231	0.735000	0.32537	-1.094000	0.02160	GTA		0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		T	22656582	G	T	22656582	3	4	638	1	0	0	0	0	1	0	0	0	10205	1261	44	4	209	4	NCAM2	21	22656582	Missense_Mutation	SNP	G	TCGA-EV-5902-01A-11D-1589-08		22656582	25473313	74	34762											
BCL2L13	23786	hgsc.bcm.edu	37	22	18138590	18138590	+	Missense_Mutation	SNP	C	C	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr22:18138590C>T	ENST00000317582.5	+	2	460	c.113C>T	c.(112-114)tCa>tTa	p.S38L	BCL2L13_ENST00000399782.1_Missense_Mutation_p.S38L|BCL2L13_ENST00000418951.2_Missense_Mutation_p.S38L|BCL2L13_ENST00000538149.1_Missense_Mutation_p.H26Y|BCL2L13_ENST00000493680.1_Missense_Mutation_p.S38L|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000355028.3_Missense_Mutation_p.S38L	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CATCTTTCCTCACCCCAAGGT	0.358																																																0													94	83	87					22																	18138590		2203	4300	6503	SO:0001583	missense	23786			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.113C>T	chr22.hg19:g.18138590C>T	ENSP00000318883:p.Ser38Leu		B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	hg19	CCDS13746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.60|12.60	1.986267|1.986267	0.35036|0.35036	.|.	.|.	ENSG00000099968|ENSG00000099968	ENST00000538149|ENST00000399782;ENST00000317582;ENST00000493680;ENST00000355028;ENST00000418951	T|T;T;T;T;T	0.40756|0.05513	1.02|3.43;3.43;3.43;3.43;3.43	5.68|5.68	2.49|2.49	0.30216|0.30216	.|.	.|0.492205	.|0.20751	.|N	.|0.086347	T|T	0.04952|0.04952	0.0133|0.0133	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B|B;B;B	0.06786|0.11235	0.001|0.004;0.001;0.001	B|B;B;B	0.12156|0.13407	0.007|0.009;0.003;0.004	T|T	0.39418|0.39418	-0.9615|-0.9615	9|10	0.87932|0.38643	D|T	0|0.18	-0.0021|-0.0021	8.7678|8.7678	0.34713|0.34713	0.0:0.7614:0.0:0.2386|0.0:0.7614:0.0:0.2386	.|.	26|38;38;38	B7Z238|E9PDD6;Q9BXK5;Q9BXK5-2	.|.;B2L13_HUMAN;.	Y|L	26|38	ENSP00000441344:H26Y|ENSP00000382682:S38L;ENSP00000318883:S38L;ENSP00000434764:S38L;ENSP00000347133:S38L;ENSP00000410019:S38L	ENSP00000441344:H26Y|ENSP00000318883:S38L	H|S	+|+	1|2	0|0	BCL2L13|BCL2L13	16518590|16518590	0.012000|0.012000	0.17670|0.17670	0.956000|0.956000	0.39512|0.39512	0.989000|0.989000	0.77384|0.77384	0.630000|0.630000	0.24553|0.24553	0.343000|0.343000	0.23821|0.23821	0.591000|0.591000	0.81541|0.81541	CAC|TCA		0.358	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		T	18138590	C	T	18138590	3	4	638	1	0	0	0	0	1	0	0	0	1371	838	29	2	115	2	BCL2L13	22	18138590	Missense_Mutation	SNP	C	TCGA-EV-5902-01A-11D-1589-08		18138590	33165976	75	34763											
NF2	4771	hgsc.bcm.edu	37	22	30067890	30067905	+	Frame_Shift_Del	DEL	AGGCTGCTGCAGATGA	AGGCTGCTGCAGATGA	-	rs74315492|rs74315498		TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	AGGCTGCTGCAGATGA	AGGCTGCTGCAGATGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr22:30067890_30067905delAGGCTGCTGCAGATGA	ENST00000338641.4	+	11	1516_1531	c.1075_1090delAGGCTGCTGCAGATGA	c.(1075-1092)aggctgctgcagatgaaafs	p.RLLQMK359fs	NF2_ENST00000403999.3_Frame_Shift_Del_p.RLLQMK359fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.RLLQMK318fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.RLLQMK276fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.RLLQMK359fs|NF2_ENST00000403435.1_Splice_Site_p.GC334fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.RLLQMK317fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Frame_Shift_Del_p.RLLQMK276fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.RLLQMK359fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	359	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.Q362*(4)|p.?(3)|p.M363fs*12(2)|p.L361fs*6(1)|p.M334fs*4(1)|p.L361fs*3(1)|p.M334_Q362del(1)|p.K364fs*5(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GTTGGAGAGGAGGCTGCTGCAGATGAAAGAAGAAGC	0.565			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	14	Deletion - Frameshift(6)|Substitution - Nonsense(4)|Unknown(3)|Deletion - In frame(1)	meninges(5)|soft_tissue(4)|large_intestine(1)|central_nervous_system(1)|endometrium(1)|skin(1)|stomach(1)	GRCh37	CM066148|CM930517	NF2	M	rs74315492|rs74315498																																			SO:0001589	frameshift_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1075_1090delAGGCTGCTGCAGATGA	chr22.hg19:g.30067890_30067905delAGGCTGCTGCAGATGA	ENSP00000344666:p.Arg359fs		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	hg19	CCDS13861.1																																																																																				0.565	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		-	30067905	AGGCTGCTGCAGATGA	-	30067890	7	5	638	1	0	1	0	1	0	0	0	0	10359	295	11	0	1117	0	NF2	22	30067890	Frame_Shift_Del	DEL	AGGCTGCTGCAGATGA	TCGA-EV-5902-01A-11D-1589-08	11929300	30067890	21236676	76	34764											
ODZ1	10178	hgsc.bcm.edu	37	X	123519705	123519705	+	Silent	SNP	G	G	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chrX:123519705G>T	ENST00000371130.3	-	28	5940	c.5877C>A	c.(5875-5877)acC>acA	p.T1959T	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.T1966T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1959					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCAGATGCAGGGTCTGTAGCA	0.488																																																0													173	144	154					X																	123519705		2203	4300	6503	SO:0001819	synonymous_variant	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5877C>A	chrX.hg19:g.123519705G>T			B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	hg19	CCDS14609.1																																																																																				0.488	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		T	123519705	G	T	123519705	2	4	638	1	0	0	0	0	0	0	0	1	10836	1219	43	4		4	ODZ1	23	123519705	Silent	SNP	G	TCGA-EV-5902-01A-11D-1589-08		123519705	31750855	77	34765											
ZDHHC9	51114	hgsc.bcm.edu	37	X	128963040	128963040	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chrX:128963040G>T	ENST00000357166.6	-	4	636	c.245C>A	c.(244-246)aCa>aAa	p.T82K	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.T82K	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	82					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CCTCAACAGTGTAGCCATGGA	0.522																																																0													127	102	110					X																	128963040		2203	4300	6503	SO:0001583	missense	51114			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"Zinc fingers, DHHC-type"	18475	protein-coding gene	gene with protein product		300646	"zinc finger, DHHC-type containing 10", "chromosome X open reading frame 11"	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.245C>A	chrX.hg19:g.128963040G>T	ENSP00000349689:p.Thr82Lys		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	hg19	CCDS35395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.36|19.36	3.812188|3.812188	0.70797|0.70797	.|.	.|.	ENSG00000188706|ENSG00000188706	ENST00000433917|ENST00000357166;ENST00000371064;ENST00000406492	.|T;T;T	.|0.25085	.|1.82;1.82;1.82	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.088515	.|0.85682	.|D	.|0.000000	T|T	0.39572|0.39572	0.1083|0.1083	M|M	0.75777|0.75777	2.31|2.31	0.51482|0.51482	D|D	0.999924|0.999924	.|P	.|0.41041	.|0.736	.|P	.|0.44422	.|0.449	T|T	0.16305|0.16305	-1.0407|-1.0407	5|10	.|0.36615	.|T	.|0.2	-7.38|-7.38	18.76|18.76	0.91847|0.91847	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|82	.|Q9Y397	.|ZDHC9_HUMAN	N|K	42|82	.|ENSP00000349689:T82K;ENSP00000360103:T82K;ENSP00000383991:T82K	.|ENSP00000349689:T82K	H|T	-|-	1|2	0|0	ZDHHC9|ZDHHC9	128790721|128790721	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.891000|0.891000	0.51852|0.51852	4.787000|4.787000	0.62432|0.62432	2.375000|2.375000	0.81037|0.81037	0.594000|0.594000	0.82650|0.82650	CAC|ACA		0.522	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		T	128963040	G	T	128963040	3	4	638	1	0	0	0	0	1	0	0	0	17627	1377	48	4	881	4	ZDHHC9	23	128963040	Missense_Mutation	SNP	G	TCGA-EV-5902-01A-11D-1589-08	5443335	128963040	26307520	78	34766											
VPS13D	55187	hgsc.bcm.edu	37	1	12304650	12304650	+	Silent	SNP	T	T	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr1:12304650T>C	ENST00000358136.3	+	5	553	c.423T>C	c.(421-423)gtT>gtC	p.V141V	VPS13D_ENST00000356315.4_Silent_p.V141V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTCCGTAGTTACAAGGATTG	0.413																																																0													143	133	137					1																	12304650		2203	4300	6503	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.423T>C	chr1.hg19:g.12304650T>C				Silent	SNP	ENST00000358136.3	hg19	CCDS30588.1																																																																																				0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		C	12304650	T	C	12304650	2	2	639	1	0	0	0	0	0	0	0	1	17197	1741	61	3		3	VPS13D	1	12304650	Silent	SNP	T	TCGA-EV-5903-01A-11D-1589-08		12304650	236945971	1	34767											
FAM40A	85369	hgsc.bcm.edu	37	1	110587506	110587507	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr1:110587506_110587507insTA	ENST00000369795.3	+	11	1353_1354	c.1331_1332insTA	c.(1330-1335)tttatafs	p.FI444fs	STRIP1_ENST00000369796.1_Frame_Shift_Ins_p.FI349fs	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	444					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CGCAGCAAATTTATAGGTTACA	0.436																																																0																																										SO:0001589	frameshift_variant	85369			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1334_1335dupTA	chr1.hg19:g.110587509_110587510dupTA	ENSP00000358810:p.Phe444fs		Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Frame_Shift_Ins	INS	ENST00000369795.3	hg19	CCDS30798.1																																																																																				0.436	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		TA	110587507	-	TA	110587506	7	5	639	1	0	1	1	0	0	0	0	0	5562	1841	64	0	1373	0	FAM40A	1	110587506	Frame_Shift_Ins	INS	-	TCGA-EV-5903-01A-11D-1589-08	98282856	110587506	138663115	2	34768											
LRRC52	440699	hgsc.bcm.edu	37	1	165514059	165514059	+	Missense_Mutation	SNP	C	C	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr1:165514059C>G	ENST00000294818.1	+	1	816	c.526C>G	c.(526-528)Ctg>Gtg	p.L176V	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	176					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCTCACTACTCTGGAGACCCT	0.512																																																0													148	152	151					1																	165514059		2203	4300	6503	SO:0001583	missense	440699			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.526C>G	chr1.hg19:g.165514059C>G	ENSP00000294818:p.Leu176Val		A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	hg19	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863665	0.32884	.	.	ENSG00000162763	ENST00000294818	T	0.06449	3.3	5.39	5.39	0.77823	.	0.089285	0.53938	D	0.000042	T	0.17195	0.0413	M	0.74881	2.28	0.34422	D	0.697524	D	0.65815	0.995	D	0.67231	0.95	T	0.00436	-1.1740	9	0.72032	D	0.01	.	16.6547	0.85225	0.0:1.0:0.0:0.0	.	176	Q8N7C0	LRC52_HUMAN	V	176	ENSP00000294818:L176V	ENSP00000294818:L176V	L	+	1	2	LRRC52	163780683	1.000000	0.71417	0.049000	0.19019	0.023000	0.10783	5.468000	0.66743	2.517000	0.84864	0.563000	0.77884	CTG		0.512	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		G	165514059	C	G	165514059	3	3	639	1	0	0	0	0	1	0	0	0	9012	912	32	4	528	4	LRRC52	1	165514059	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08	54926553	165514059	83736562	3	34769											
C1orf107	27042	hgsc.bcm.edu	37	1	210015618	210015618	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr1:210015618G>A	ENST00000491415.2	+	9	1551	c.1494G>A	c.(1492-1494)atG>atA	p.M498I		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	498					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AGCATTTGATGAATCACATGA	0.418																																																0													82	74	76					1																	210015618		2203	4300	6503	SO:0001583	missense	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1494G>A	chr1.hg19:g.210015618G>A	ENSP00000419005:p.Met498Ile		O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	hg19	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076476	0.76415	.	.	ENSG00000117597	ENST00000491415	T	0.37411	1.2	6.17	6.17	0.99709	.	0.069797	0.85682	D	0.000000	T	0.36580	0.0972	L	0.45228	1.405	0.58432	D	0.999996	P	0.45044	0.849	B	0.39971	0.315	T	0.03315	-1.1049	10	0.35671	T	0.21	-37.8963	20.8794	0.99867	0.0:0.0:1.0:0.0	.	498	Q68CQ4	DIEXF_HUMAN	I	498	ENSP00000419005:M498I	ENSP00000419005:M498I	M	+	3	0	DIEXF	208082241	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.791000	0.85805	2.941000	0.99782	0.655000	0.94253	ATG		0.418	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		A	210015618	G	A	210015618	3	1	639	1	0	0	0	0	1	0	0	0	1983	1290	45	2	1528	2	C1orf107	1	210015618	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	44501559	210015618	39235003	4	34770											
KHK	3795	hgsc.bcm.edu	37	2	27322367	27322367	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:27322367T>C	ENST00000260599.6	+	7	1246	c.733T>C	c.(733-735)Ttc>Ctc	p.F245L	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.F245L|CGREF1_ENST00000452318.2_3'UTR|CGREF1_ENST00000402550.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	245					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGGATGCTTTCCCGCCACC	0.637																																																0													80	82	82					2																	27322367		2203	4300	6503	SO:0001583	missense	3795				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.733T>C	chr2.hg19:g.27322367T>C	ENSP00000260599:p.Phe245Leu		Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	hg19	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.519838	0.64634	.	.	ENSG00000138030	ENST00000260599;ENST00000260598	T;T	0.75477	-0.94;-0.94	5.29	4.11	0.48088	Carbohydrate/purine kinase (1);	0.048848	0.85682	D	0.000000	T	0.71324	0.3326	M	0.66939	2.045	0.80722	D	1	B;P;B;P	0.51791	0.021;0.948;0.08;0.948	B;B;B;B	0.43052	0.022;0.406;0.049;0.406	T	0.69621	-0.5096	10	0.38643	T	0.18	-12.9402	10.6793	0.45804	0.0:0.0:0.1603:0.8397	.	245;245;245;245	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	L	245	ENSP00000260599:F245L;ENSP00000260598:F245L	ENSP00000260598:F245L	F	+	1	0	KHK	27175871	1.000000	0.71417	0.979000	0.43373	0.490000	0.33462	4.841000	0.62824	0.811000	0.34303	0.454000	0.30748	TTC		0.637	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			C	27322367	T	C	27322367	3	2	639	1	0	0	0	0	1	0	0	0	8151	1841	64	3	898	3	KHK	2	27322367	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08		27322367	215877006	5	34771											
DNAJC5G	285126	hgsc.bcm.edu	37	2	27503082	27503082	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:27503082A>T	ENST00000296097.3	+	6	987	c.569A>T	c.(568-570)tAa>tTa	p.*190L	DNAJC5G_ENST00000404433.1_Nonstop_Mutation_p.*174L|DNAJC5G_ENST00000402462.1_Nonstop_Mutation_p.*190L|DNAJC5G_ENST00000406962.1_Nonsense_Mutation_p.K103*|TRIM54_ENST00000380075.2_5'Flank|TRIM54_ENST00000296098.4_5'Flank	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	0						membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGATTTTTAAGAGATGAAG	0.333											OREG0014517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													141	153	149					2																	27503082		2203	4300	6503	SO:0001578	stop_lost	285126			AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"Heat shock proteins / DNAJ (HSP40)"	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.569A>T	chr2.hg19:g.27503082A>T	ENSP00000296097:p.*190Leuext*11	794	B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	hg19	CCDS1744.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.13|16.13	3.037320|3.037320	0.54896|0.54896	.|.	.|.	ENSG00000163793|ENSG00000163793	ENST00000406962|ENST00000296097;ENST00000402462;ENST00000404433	.|.	.|.	.|.	3.86|3.86	0.87|0.87	0.19102|0.19102	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	2.2003|2.2003	0.03921|0.03921	0.5749:0.0:0.1962:0.2289|0.5749:0.0:0.1962:0.2289	.|.	.|.	.|.	.|.	X|L	103|190;190;174	.|.	.|.	K|X	+|+	1|2	0|2	DNAJC5G|DNAJC5G	27356586|27356586	0.017000|0.017000	0.18338|0.18338	0.000000|0.000000	0.03702|0.03702	0.353000|0.353000	0.29299|0.29299	0.770000|0.770000	0.26618|0.26618	0.154000|0.154000	0.19237|0.19237	0.379000|0.379000	0.24179|0.24179	AAG|TAA		0.333	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		T	27503082	A	T	27503082	4	4	639	1	0	0	0	0	0	0	0	0	4654	369	13	5	583	5	DNAJC5G	2	27503082	Nonstop_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08	180715	27503082	215696291	6	34772											
LTBP1	4052	hgsc.bcm.edu	37	2	33359941	33359941	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:33359941A>C	ENST00000404816.2	+	5	1468	c.1115A>C	c.(1114-1116)aAc>aCc	p.N372T	LTBP1_ENST00000404525.1_Missense_Mutation_p.N46T|LTBP1_ENST00000390003.4_Missense_Mutation_p.N46T|LTBP1_ENST00000354476.3_Missense_Mutation_p.N372T|LTBP1_ENST00000407925.1_Missense_Mutation_p.N46T|LTBP1_ENST00000418533.2_Missense_Mutation_p.N46T|LTBP1_ENST00000402934.1_Missense_Mutation_p.N46T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	372					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCTGTCAGAACAGCTGTGAG	0.562																																																0													101	86	92					2																	33359941		2203	4300	6503	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1115A>C	chr2.hg19:g.33359941A>C	ENSP00000386043:p.Asn372Thr		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	hg19	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287221	0.80803	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.72;-1.66;-1.75;-1.73;-1.69	5.57	5.57	0.84162	.	.	.	.	.	D	0.91133	0.7208	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.97110	0.995;0.998;1.0;0.998;0.998;0.998	D	0.92071	0.5664	9	0.87932	D	0	.	15.7244	0.77743	1.0:0.0:0.0:0.0	.	372;46;46;46;46;372	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	T	372;372;61;46;46;46;46;46	ENSP00000386043:N372T;ENSP00000346467:N372T;ENSP00000374653:N46T;ENSP00000393057:N46T;ENSP00000384373:N46T;ENSP00000385359:N46T;ENSP00000384091:N46T	ENSP00000346467:N372T	N	+	2	0	LTBP1	33213445	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.228000	0.95250	2.110000	0.64415	0.379000	0.24179	AAC		0.562	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		C	33359941	A	C	33359941	3	2	639	1	0	0	0	0	1	0	0	0	9075	43	2	5	1188	5	LTBP1	2	33359941	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08	5856859	33359941	209839432	7	34773											
IMMT	10989	hgsc.bcm.edu	37	2	86371396	86371396	+	Missense_Mutation	SNP	C	C	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:86371396C>G	ENST00000410111.3	-	15	2659	c.2272G>C	c.(2272-2274)Gag>Cag	p.E758Q	IMMT_ENST00000449247.2_Missense_Mutation_p.E747Q|IMMT_ENST00000254636.5_Missense_Mutation_p.E659Q|IMMT_ENST00000442664.2_Missense_Mutation_p.E757Q|IMMT_ENST00000409051.2_Missense_Mutation_p.E711Q	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	758				E -> D (in Ref. 3; CAG33074). {ECO:0000305}.	mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.E758Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAACCTCACTCTGGCTGCACC	0.473																																																1	Substitution - Missense(1)	lung(1)											59	57	58					2																	86371396		1907	4127	6034	SO:0001583	missense	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.2272G>C	chr2.hg19:g.86371396C>G	ENSP00000387262:p.Glu758Gln		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	hg19	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.72|11.72	1.722342|1.722342	0.30503|0.30503	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.35236|.	1.32;1.35;1.36;1.35;1.34|.	4.44|4.44	3.55|3.55	0.40652|0.40652	.|.	0.145672|.	0.32041|.	N|.	0.006672|.	T|T	0.13157|0.13157	0.0319|0.0319	N|N	0.02011|0.02011	-0.69|-0.69	0.24917|0.24917	N|N	0.992003|0.992003	D;D;D;D;D|.	0.71674|.	0.994;0.997;0.998;0.998;0.989|.	D;D;D;D;P|.	0.79784|.	0.979;0.985;0.993;0.993;0.742|.	T|T	0.18335|0.18335	-1.0340|-1.0340	10|5	0.49607|.	T|.	0.09|.	-13.9033|-13.9033	8.3828|8.3828	0.32481|0.32481	0.0:0.7575:0.1586:0.0839|0.0:0.7575:0.1586:0.0839	.|.	711;746;747;726;758|.	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;IMMT_HUMAN|.	Q|T	659;747;758;757;711;747;726;372;659|612	ENSP00000254636:E659Q;ENSP00000396899:E747Q;ENSP00000387262:E758Q;ENSP00000407788:E757Q;ENSP00000387227:E711Q|.	ENSP00000254636:E659Q|.	E|R	-|-	1|2	0|0	IMMT|IMMT	86224907|86224907	0.036000|0.036000	0.19791|0.19791	0.972000|0.972000	0.41901|0.41901	0.346000|0.346000	0.29079|0.29079	1.134000|1.134000	0.31442|0.31442	1.467000|1.467000	0.48044|0.48044	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.473	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		G	86371396	C	G	86371396	3	3	639	1	0	0	0	0	1	0	0	0	7720	922	32	4	8	4	IMMT	2	86371396	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08	53011455	86371396	156827977	8	34774											
CWC22	57703	hgsc.bcm.edu	37	2	180810243	180810243	+	Silent	SNP	A	A	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:180810243A>G	ENST00000410053.3	-	20	2639	c.2340T>C	c.(2338-2340)ccT>ccC	p.P780P	CWC22_ENST00000295749.6_Silent_p.P780P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	780					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ACTTTGTTATAGGATCTCTCC	0.388																																																0													222	206	211					2																	180810243		1860	4108	5968	SO:0001819	synonymous_variant	57703				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2340T>C	chr2.hg19:g.180810243A>G			Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	hg19	CCDS46465.1																																																																																				0.388	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		G	180810243	A	G	180810243	2	3	639	1	0	0	0	0	0	0	0	1	4070	407	15	3		3	CWC22	2	180810243	Silent	SNP	A	TCGA-EV-5903-01A-11D-1589-08	94438847	180810243	62389130	9	34775											
ERBB4	2066	hgsc.bcm.edu	37	2	212295693	212295693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:212295693C>A	ENST00000342788.4	-	21	2930	c.2620G>T	c.(2620-2622)Gag>Tag	p.E874*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E864*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E874*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	874	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCATTGTACTCTTTTTCATCT	0.373										TSP Lung(8;0.080)																																						0													147	139	142					2																	212295693		2203	4300	6503	SO:0001587	stop_gained	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2620G>T	chr2.hg19:g.212295693C>A	ENSP00000342235:p.Glu874*		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	hg19	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264878	0.95399	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.0631	0.93100	0.0:1.0:0.0:0.0	.	.	.	.	X	874;874;864	.	ENSP00000342235:E874X	E	-	1	0	ERBB4	212003938	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	7.747000	0.85070	2.565000	0.86533	0.563000	0.77884	GAG		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		A	212295693	C	A	212295693	4	1	639	1	0	0	0	0	0	1	0	0	5211	922	32	4	1338	4	ERBB4	2	212295693	Nonsense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08	31485450	212295693	30903680	10	34776											
DNAJB2	3300	hgsc.bcm.edu	37	2	220149459	220149459	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:220149459C>A	ENST00000336576.5	+	9	1013	c.725C>A	c.(724-726)tCa>tAa	p.S242*	DNAJB2_ENST00000392086.4_Nonsense_Mutation_p.S242*|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	242					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCCTGCCTCATGCCCCTTG	0.637																																																0													35	34	34					2																	220149459		2203	4299	6502	SO:0001587	stop_gained	3300				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"Heat shock proteins / DNAJ (HSP40)"	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.725C>A	chr2.hg19:g.220149459C>A	ENSP00000338019:p.Ser242*		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Nonsense_Mutation	SNP	ENST00000336576.5	hg19	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905268	0.52333	.	.	ENSG00000135924	ENST00000336576;ENST00000392086;ENST00000392087	.	.	.	4.83	3.87	0.44632	.	1937.130000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3425	0.60553	0.0:0.9096:0.0:0.0904	.	.	.	.	X	242;242;211	.	ENSP00000338019:S242X	S	+	2	0	DNAJB2	219857703	0.000000	0.05858	0.009000	0.14445	0.006000	0.05464	-0.017000	0.12590	2.512000	0.84698	0.462000	0.41574	TCA		0.637	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			A	220149459	C	A	220149459	4	1	639	1	0	0	0	0	0	1	0	0	4622	838	29	4	755	4	DNAJB2	2	220149459	Nonsense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08	7853766	220149459	23049914	11	34777											
HDAC4	9759	hgsc.bcm.edu	37	2	239988463	239988463	+	Silent	SNP	A	A	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:239988463A>T	ENST00000345617.3	-	24	3734	c.2943T>A	c.(2941-2943)atT>atA	p.I981I	AC017028.4_ENST00000577359.1_RNA|AC017028.3_ENST00000584260.1_RNA|AC017028.10_ENST00000579161.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.2_ENST00000578555.1_RNA|HDAC4_ENST00000543185.1_Silent_p.I565I|AC017028.6_ENST00000577291.1_RNA|AC017028.9_ENST00000581111.1_RNA|AC017028.5_ENST00000582834.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	981	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGGCGTCGCAAATGGCGGTCA	0.632																																																0													78	75	76					2																	239988463		2203	4300	6503	SO:0001819	synonymous_variant	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2943T>A	chr2.hg19:g.239988463A>T			Q9UND6	Silent	SNP	ENST00000345617.3	hg19	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768867	0.31320	.	.	ENSG00000068024	ENST00000430200	.	.	.	4.21	-5.54	0.02544	.	.	.	.	.	T	0.62829	0.2460	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64305	-0.6439	4	.	.	.	.	14.9101	0.70749	0.3468:0.0:0.6532:0.0	.	.	.	.	Y	72	.	.	F	-	2	0	HDAC4	239653400	0.715000	0.27946	0.962000	0.40283	0.971000	0.66376	-0.071000	0.11505	-1.038000	0.03279	-0.376000	0.06991	TTT		0.632	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		T	239988463	A	T	239988463	2	4	639	1	0	0	0	0	0	0	0	1	7011	10	1	5		5	HDAC4	2	239988463	Silent	SNP	A	TCGA-EV-5903-01A-11D-1589-08	19839004	239988463	3210910	12	34778											
FARP2	9855	hgsc.bcm.edu	37	2	242433435	242433435	+	Silent	SNP	G	G	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:242433435G>C	ENST00000264042.3	+	27	3230	c.3060G>C	c.(3058-3060)gtG>gtC	p.V1020V	STK25_ENST00000316586.4_3'UTR|STK25_ENST00000478403.1_5'Flank	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1020	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGATGGAGGTGATCCAGGGGG	0.637																																																0													51	56	55					2																	242433435		2202	4299	6501	SO:0001819	synonymous_variant	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.3060G>C	chr2.hg19:g.242433435G>C			B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	hg19	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424530	0.25639	.	.	ENSG00000006607	ENST00000444371;ENST00000412332	.	.	.	4.94	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5752	0.61870	0.0:0.1619:0.8381:0.0	.	.	.	.	S	163;22	.	.	X	+	2	2	FARP2	242082108	1.000000	0.71417	0.997000	0.53966	0.721000	0.41392	0.714000	0.25808	1.176000	0.42840	0.655000	0.94253	TGA		0.637	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			C	242433435	G	C	242433435	2	2	639	1	0	0	0	0	0	0	0	1	5679	1277	45	4		4	FARP2	2	242433435	Silent	SNP	G	TCGA-EV-5903-01A-11D-1589-08	2444972	242433435	765938	13	34779											
CLASP2	23122	hgsc.bcm.edu	37	3	33552091	33552091	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:33552091G>T	ENST00000468888.2	-	37	4346	c.4300C>A	c.(4300-4302)Cta>Ata	p.L1434I	CLASP2_ENST00000480013.1_Missense_Mutation_p.L1213I|CLASP2_ENST00000399362.4_Missense_Mutation_p.L1433I|CLASP2_ENST00000359576.5_Missense_Mutation_p.L1425I|CLASP2_ENST00000461133.3_Missense_Mutation_p.L1193I|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000307312.7_Missense_Mutation_p.L915I			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1214					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGCAGGTTTAGGGTTTCCTTG	0.393																																																0													195	174	181					3																	33552091		1882	4117	5999	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4300C>A	chr3.hg19:g.33552091G>T	ENSP00000419974:p.Leu1434Ile		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	hg19		.	.	.	.	.	.	.	.	.	.	G	28.7	4.942933	0.92526	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.80210	0.4581	L	0.60845	1.875	0.80722	D	1	D;P	0.71674	0.998;0.725	D;P	0.77557	0.99;0.759	T	0.74633	-0.3600	10	0.31617	T	0.26	-16.2438	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1425;1433	F5H604;E7ERI8	.;.	I	1434;1433;1425;915;1213;1193	ENSP00000419974:L1434I;ENSP00000382297:L1433I;ENSP00000352581:L1425I;ENSP00000304743:L915I;ENSP00000417518:L1213I;ENSP00000419305:L1193I	ENSP00000304743:L915I	L	-	1	2	CLASP2	33527095	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	7.666000	0.83877	2.894000	0.99253	0.655000	0.94253	CTA		0.393	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		T	33552091	G	T	33552091	3	4	639	1	0	0	0	0	1	0	0	0	3457	991	35	4	256	4	CLASP2	3	33552091	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08		33552091	164470339	14	34780											
LAMB2	3913	hgsc.bcm.edu	37	3	49159166	49159166	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:49159166G>A	ENST00000418109.1	-	31	5215	c.5051C>T	c.(5050-5052)gCa>gTa	p.A1684V	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.A1684V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1684	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGTTTCTTCTGCTGTAGAGGC	0.607																																																0													75	78	77					3																	49159166		2202	4300	6502	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.5051C>T	chr3.hg19:g.49159166G>A	ENSP00000388325:p.Ala1684Val		Q16321	Missense_Mutation	SNP	ENST00000418109.1	hg19	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107341	0.77096	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.38240	1.15;1.15	5.79	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44574	-0.9319	10	0.07325	T	0.83	.	14.8494	0.70284	0.0689:0.0:0.9311:0.0	.	1684	P55268	LAMB2_HUMAN	V	1684	ENSP00000388325:A1684V;ENSP00000307156:A1684V	ENSP00000307156:A1684V	A	-	2	0	LAMB2	49134170	1.000000	0.71417	0.027000	0.17364	0.970000	0.65996	9.339000	0.96797	1.451000	0.47736	0.655000	0.94253	GCA		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		A	49159166	G	A	49159166	3	1	639	1	0	0	0	0	1	0	0	0	8613	1319	46	2	357	2	LAMB2	3	49159166	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	15607075	49159166	148863264	15	34781											
TMEM22	80723	hgsc.bcm.edu	37	3	136573495	136573495	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:136573495delG	ENST00000446465.2	+	2	821	c.193delG	c.(193-195)gggfs	p.G65fs	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.G65fs|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.G65R(1)									GAAAAAAAAAGGGAGAGCTTT	0.403																																																1	Substitution - Missense(1)	lung(1)											84	94	91					3																	136573495		2203	4300	6503	SO:0001589	frameshift_variant	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"Solute carriers"	28480	protein-coding gene	gene with protein product			"transmembrane protein 22"	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.193delG	chr3.hg19:g.136573495delG	ENSP00000400839:p.Gly65fs			Frame_Shift_Del	DEL	ENST00000446465.2	hg19	CCDS3091.1																																																																																				0.403	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		-	136573495	G	-	136573495	7	5	639	1	0	1	0	1	0	0	0	0	16148	1000	35	0	195	0	TMEM22	3	136573495	Frame_Shift_Del	DEL	G	TCGA-EV-5903-01A-11D-1589-08	87414329	136573495	61448935	16	34782											
TNFSF10	8743	hgsc.bcm.edu	37	3	172227069	172227069	+	Missense_Mutation	SNP	G	G	C	rs369143448		TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:172227069G>C	ENST00000241261.2	-	4	478	c.356C>G	c.(355-357)cCt>cGt	p.P119R	TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	119					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TACTCTCTGAGGACCTCTTTC	0.388																																																0													105	102	103					3																	172227069		2203	4300	6503	SO:0001583	missense	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.356C>G	chr3.hg19:g.172227069G>C	ENSP00000241261:p.Pro119Arg		A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	hg19	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	G	4.858	0.159457	0.09236	.	.	ENSG00000121858	ENST00000241261	D	0.86769	-2.17	4.71	-4.74	0.03249	.	1.516980	0.03189	N	0.173149	T	0.80325	0.4602	L	0.54323	1.7	0.09310	N	1	B	0.28324	0.207	B	0.23574	0.047	T	0.64097	-0.6487	10	0.08837	T	0.75	5.0717	8.19	0.31363	0.659:0.1329:0.208:0.0	.	119	P50591	TNF10_HUMAN	R	119	ENSP00000241261:P119R	ENSP00000241261:P119R	P	-	2	0	TNFSF10	173709763	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.053000	0.03500	-0.976000	0.03542	-1.113000	0.02065	CCT		0.388	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			C	172227069	G	C	172227069	3	2	639	1	0	0	0	0	1	0	0	0	16306	1000	35	4	497	4	TNFSF10	3	172227069	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	35653574	172227069	25795361	17	34783											
FGF12	2257	hgsc.bcm.edu	37	3	192078247	192078247	+	Missense_Mutation	SNP	C	C	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:192078247C>A	ENST00000454309.2	-	2	1105	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	FGF12_ENST00000450716.1_Missense_Mutation_p.D32Y|FGF12_ENST00000445105.2_Missense_Mutation_p.D32Y|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Missense_Mutation_p.D32Y	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	94					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTGGTCCCATCAATGGTACCA	0.408																																																0													178	150	159					3																	192078247		2203	4300	6503	SO:0001583	missense	2257			U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"fibroblast growth factor 12B", "fibroblast growth factor homologous factor 1", "myocyte-activating factor", "fibroblast growth factor FGF-12b"	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.280G>T	chr3.hg19:g.192078247C>A	ENSP00000413496:p.Asp94Tyr		B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	hg19	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882126	0.72294	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000450716;ENST00000448795;ENST00000418610	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.53	5.53	0.82687	.	0.192095	0.56097	D	0.000035	D	0.82857	0.5128	M	0.85630	2.765	0.80722	D	1	D;D	0.62365	0.981;0.991	P;P	0.62298	0.838;0.9	D	0.85384	0.1121	10	0.72032	D	0.01	.	18.4573	0.90725	0.0:1.0:0.0:0.0	.	32;94	P61328-2;P61328	.;FGF12_HUMAN	Y	32;32;32;94;32;8;32	ENSP00000264730:D32Y;ENSP00000393686:D32Y;ENSP00000413496:D94Y;ENSP00000397635:D32Y;ENSP00000412904:D8Y;ENSP00000395517:D32Y	ENSP00000264730:D32Y	D	-	1	0	FGF12	193560941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.390000	0.59646	2.613000	0.88420	0.591000	0.81541	GAT		0.408	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		A	192078247	C	A	192078247	3	1	639	1	0	0	0	0	1	0	0	0	5843	826	29	4	467	4	FGF12	3	192078247	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08	19851178	192078247	5944183	18	34784											
SPON2	10417	hgsc.bcm.edu	37	4	1165206	1165206	+	Missense_Mutation	SNP	A	A	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr4:1165206A>T	ENST00000290902.5	-	3	621	c.289T>A	c.(289-291)Ttt>Att	p.F97I	SPON2_ENST00000431380.1_Missense_Mutation_p.F97I	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	97	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGCTCCGCAAAGTCGCGCAGC	0.701																																																0													26	28	27					4																	1165206		2193	4283	6476	SO:0001583	missense	10417			AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.289T>A	chr4.hg19:g.1165206A>T	ENSP00000290902:p.Phe97Ile		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	hg19	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757899	0.69648	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765	T;T;T	0.44881	0.91;0.91;0.91	4.5	4.5	0.54988	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	M	0.71296	2.17	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.987;0.955;0.967	T	0.61187	-0.7113	10	0.35671	T	0.21	.	13.4453	0.61138	1.0:0.0:0.0:0.0	.	97;97;97	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	I	97	ENSP00000290902:F97I;ENSP00000394832:F97I;ENSP00000424542:F97I	ENSP00000290902:F97I	F	-	1	0	SPON2	1155206	1.000000	0.71417	0.979000	0.43373	0.095000	0.18619	5.240000	0.65378	1.667000	0.50832	0.418000	0.28097	TTT		0.701	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			T	1165206	A	T	1165206	3	4	639	1	0	0	0	0	1	0	0	0	15088	72	3	5	722	5	SPON2	4	1165206	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08		1165206	189989070	19	34785											
KIAA1530	57654	hgsc.bcm.edu	37	4	1347115	1347115	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr4:1347115A>C	ENST00000389851.4	+	5	1295	c.848A>C	c.(847-849)gAg>gCg	p.E283A	UVSSA_ENST00000511216.1_Missense_Mutation_p.E283A|UVSSA_ENST00000507531.1_Missense_Mutation_p.E283A	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	283					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CCCTCAGATGAGGACGAGGAC	0.657																																																0													17	18	18					4																	1347115		2193	4283	6476	SO:0001583	missense	57654			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.848A>C	chr4.hg19:g.1347115A>C	ENSP00000374501:p.Glu283Ala		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	hg19	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	A	6.849	0.525889	0.13066	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.32988	1.43;1.43;1.43	4.13	2.89	0.33648	.	0.479895	0.23176	N	0.051071	T	0.20007	0.0481	L	0.55481	1.735	0.23204	N	0.998124	B	0.30406	0.278	B	0.24974	0.057	T	0.29058	-1.0024	10	0.05721	T	0.95	.	5.9647	0.19318	0.7766:0.0:0.2234:0.0	.	283	Q2YD98	K1530_HUMAN	A	283	ENSP00000425130:E283A;ENSP00000374501:E283A;ENSP00000421741:E283A	ENSP00000374501:E283A	E	+	2	0	KIAA1530	1337115	0.933000	0.31639	0.289000	0.24876	0.208000	0.24298	3.004000	0.49513	0.438000	0.26450	0.260000	0.18958	GAG		0.657	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		C	1347115	A	C	1347115	3	2	639	1	0	0	0	0	1	0	0	0	8243	304	11	5	862	5	KIAA1530	4	1347115	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08	181909	1347115	189807161	20	34786											
DCHS2	54798	hgsc.bcm.edu	37	4	155180741	155180741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr4:155180741delC	ENST00000357232.4	-	20	5379	c.5380delG	c.(5380-5382)gcafs	p.A1794fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1794	Cadherin 16. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GACACTGATGCCTGGTAAATG	0.413																																																0													213	191	199					4																	155180741		2203	4300	6503	SO:0001589	frameshift_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5380delG	chr4.hg19:g.155180741delC	ENSP00000349768:p.Ala1794fs		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	ENST00000357232.4	hg19	CCDS3785.1																																																																																				0.413	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		-	155180741	C	-	155180741	7	5	639	1	0	1	0	1	0	0	0	0	4290	739	26	0	3394	0	DCHS2	4	155180741	Frame_Shift_Del	DEL	C	TCGA-EV-5903-01A-11D-1589-08	153833626	155180741	35973535	21	34787											
FRG1	2483	hgsc.bcm.edu	37	4	190864392	190864392	+	Missense_Mutation	SNP	G	G	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr4:190864392G>C	ENST00000226798.4	+	2	320	c.98G>C	c.(97-99)aGa>aCa	p.R33T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	33					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R33K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		aaaagaaaaagagaagaagat	0.308																																																1	Substitution - Missense(1)	breast(1)											42	51	48					4																	190864392		2197	4226	6423	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.98G>C	chr4.hg19:g.190864392G>C	ENSP00000226798:p.Arg33Thr		A8K775	Missense_Mutation	SNP	ENST00000226798.4	hg19	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	5.613	0.297786	0.10622	.	.	ENSG00000109536	ENST00000226798	T	0.30714	1.52	3.1	2.25	0.28309	.	0.286306	0.34046	N	0.004315	T	0.27594	0.0678	M	0.70595	2.14	0.46701	D	0.999166	P	0.34662	0.462	B	0.36534	0.227	T	0.03306	-1.1050	10	0.14252	T	0.57	1.2394	6.1276	0.20187	0.1417:0.0:0.8583:0.0	.	33	Q14331	FRG1_HUMAN	T	33	ENSP00000226798:R33T	ENSP00000226798:R33T	R	+	2	0	FRG1	191101386	1.000000	0.71417	0.991000	0.47740	0.892000	0.51952	2.970000	0.49240	0.874000	0.35823	0.549000	0.68633	AGA		0.308	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		C	190864392	G	C	190864392	3	2	639	1	0	0	0	0	1	0	0	0	6048	942	33	4	104	4	FRG1	4	190864392	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	35683651	190864392	289884	22	34788											
TMEM161B	153396	hgsc.bcm.edu	37	5	87521633	87521633	+	Missense_Mutation	SNP	A	A	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr5:87521633A>G	ENST00000296595.6	-	4	366	c.242T>C	c.(241-243)aTt>aCt	p.I81T	TMEM161B_ENST00000509387.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.I70T|TMEM161B_ENST00000514135.1_Missense_Mutation_p.I81T|TMEM161B_ENST00000506536.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	81						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		ATGAAGGTCAATATCCTTTGG	0.299																																																0													132	129	130					5																	87521633		2202	4298	6500	SO:0001583	missense	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.242T>C	chr5.hg19:g.87521633A>G	ENSP00000296595:p.Ile81Thr		Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	hg19	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222869	0.58668	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393	.	.	.	5.02	5.02	0.67125	.	0.047070	0.85682	D	0.000000	T	0.55369	0.1916	L	0.44542	1.39	0.80722	D	1	B	0.15719	0.014	B	0.18871	0.023	T	0.52056	-0.8626	9	0.35671	T	0.21	-0.078	15.0267	0.71674	1.0:0.0:0.0:0.0	.	81	Q8NDZ6	T161B_HUMAN	T	81;81;70;81	.	ENSP00000296595:I81T	I	-	2	0	TMEM161B	87557389	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.804000	0.91921	2.025000	0.59659	0.383000	0.25322	ATT		0.299	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		G	87521633	A	G	87521633	3	3	639	1	0	0	0	0	1	0	0	0	16082	101	4	3	1257	3	TMEM161B	5	87521633	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08		87521633	93393627	23	34789											
NSD1	64324	hgsc.bcm.edu	37	5	176639042	176639042	+	Silent	SNP	T	T	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr5:176639042T>C	ENST00000439151.2	+	5	3687	c.3642T>C	c.(3640-3642)ctT>ctC	p.L1214L	NSD1_ENST00000347982.4_Silent_p.L945L|NSD1_ENST00000361032.4_Silent_p.L1111L|NSD1_ENST00000354179.4_Silent_p.L945L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1214					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAAGCATACTTGAGGAACCAC	0.483			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													84	82	83					5																	176639042		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3642T>C	chr5.hg19:g.176639042T>C			Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	hg19	CCDS4412.1																																																																																				0.483	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		C	176639042	T	C	176639042	2	2	639	1	0	0	0	0	0	0	0	1	10671	1799	63	3		3	NSD1	5	176639042	Silent	SNP	T	TCGA-EV-5903-01A-11D-1589-08	89117409	176639042	4276218	24	34790											
NUP153	9972	hgsc.bcm.edu	37	6	17688708	17688708	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:17688708G>A	ENST00000262077.2	-	2	252	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	NUP153_ENST00000537253.1_Missense_Mutation_p.H85Y	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	85					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATACCAGATGGTCCTCTTTA	0.438																																																0													130	123	125					6																	17688708		2203	4300	6503	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.253C>T	chr6.hg19:g.17688708G>A	ENSP00000262077:p.His85Tyr		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	hg19	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693922	0.48202	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.08282	3.13;3.11	5.37	5.37	0.77165	.	0.125530	0.35805	N	0.002971	T	0.06600	0.0169	L	0.29908	0.895	0.42291	D	0.99213	D;B;P	0.65815	0.995;0.021;0.94	P;B;B	0.60609	0.877;0.008;0.439	T	0.06144	-1.0843	10	0.02654	T	1	-2.2032	16.8895	0.86083	0.0:0.0:1.0:0.0	.	85;107;85	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	Y	85;107;85	ENSP00000262077:H85Y;ENSP00000444029:H85Y	ENSP00000262077:H85Y	H	-	1	0	NUP153	17796687	0.927000	0.31430	0.892000	0.35008	0.127000	0.20565	4.623000	0.61247	2.494000	0.84150	0.650000	0.86243	CAT		0.438	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			A	17688708	G	A	17688708	3	1	639	1	0	0	0	0	1	0	0	0	10757	1348	47	2	4258	2	NUP153	6	17688708	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08		17688708	153426359	25	34791											
ZNF184	7738	hgsc.bcm.edu	37	6	27420017	27420017	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:27420017T>C	ENST00000211936.6	-	6	1605	c.1321A>G	c.(1321-1323)Act>Gct	p.T441A	ZNF184_ENST00000377419.1_Missense_Mutation_p.T441A	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	441					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(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCTCCCCAGTATGAGTTTTT	0.403																																																0													86	86	86					6																	27420017		2203	4300	6503	SO:0001583	missense	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1321A>G	chr6.hg19:g.27420017T>C	ENSP00000211936:p.Thr441Ala		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	hg19	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937528	0.73557	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	T;T	0.26518	1.73;1.73	5.27	5.27	0.74061	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.130826	0.35585	N	0.003116	T	0.11367	0.0277	L	0.33624	1.015	0.42611	D	0.993316	P	0.46706	0.883	B	0.38921	0.285	T	0.03139	-1.1068	10	0.87932	D	0	.	13.1686	0.59585	0.0:0.0:0.0:1.0	.	441	Q99676	ZN184_HUMAN	A	441	ENSP00000211936:T441A;ENSP00000366636:T441A	ENSP00000211936:T441A	T	-	1	0	ZNF184	27527996	0.995000	0.38212	0.769000	0.31535	0.998000	0.95712	2.951000	0.49089	2.214000	0.71695	0.533000	0.62120	ACT		0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		C	27420017	T	C	27420017	3	2	639	1	0	0	0	0	1	0	0	0	17756	1638	57	3	938	3	ZNF184	6	27420017	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	9731309	27420017	143695050	26	34792											
RGL2	5863	hgsc.bcm.edu	37	6	33260849	33260849	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:33260849T>C	ENST00000497454.1	-	16	2446	c.1951A>G	c.(1951-1953)Atc>Gtc	p.I651V	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	651	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACTCGGATGATACGGCAATCA	0.597																																																0													202	229	220					6																	33260849		2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1951A>G	chr6.hg19:g.33260849T>C	ENSP00000420211:p.Ile651Val		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	hg19	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650468	0.47362	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.49139	0.79	4.6	4.6	0.57074	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.40543	1.245	0.80722	D	1	D	0.58620	0.983	D	0.73708	0.981	T	0.45131	-0.9282	10	0.42905	T	0.14	.	10.3298	0.43816	0.0:0.0:0.0:1.0	.	651	O15211	RGL2_HUMAN	V	651;515	ENSP00000420211:I651V	ENSP00000400083:I515V	I	-	1	0	RGL2	33368827	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.349000	0.66010	1.937000	0.56155	0.523000	0.50628	ATC		0.597	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			C	33260849	T	C	33260849	3	2	639	1	0	0	0	0	1	0	0	0	13283	1406	49	3	394	3	RGL2	6	33260849	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	5840832	33260849	137854218	27	34793											
NUDT3	11165	hgsc.bcm.edu	37	6	34309651	34309651	+	Missense_Mutation	SNP	T	T	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:34309651T>G	ENST00000607016.1	-	2	509	c.198A>C	c.(196-198)gaA>gaC	p.E66D	RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.E185D	NM_006703.3	NP_006694.1	O95989	NUDT3_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 3	66	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cell-cell signaling (GO:0007267)|diadenosine polyphosphate catabolic process (GO:0015961)|diphosphoinositol polyphosphate catabolic process (GO:0071544)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|magnesium ion binding (GO:0000287)			lung(2)	2						CCTCACAGACTTCACGAACTG	0.532																																					GBM(96;1206 1939 18658 39482)											0													155	119	131					6																	34309651		2203	4300	6503	SO:0001583	missense	0			AF062530	CCDS4791.1	6p21.2	2014-07-16			ENSG00000272325	ENSG00000272325		"Nudix motif containing"	8050	protein-coding gene	gene with protein product		609228				9822604	Standard	NM_006703		Approved	DIPP		O95989	OTTHUMG00000014545	ENST00000607016.1:c.198A>C	chr6.hg19:g.34309651T>G	ENSP00000476119:p.Glu66Asp		B2R8N4	Missense_Mutation	SNP	ENST00000607016.1	hg19	CCDS4791.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725873	0.89298	.	.	ENSG00000112664	ENST00000358797	T	0.29917	1.55	5.66	4.5	0.54988	NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	H	0.99415	4.555	0.80722	D	1	P	0.48589	0.912	D	0.75020	0.985	T	0.76889	-0.2792	10	0.87932	D	0	-14.5823	10.5134	0.44874	0.0:0.0772:0.0:0.9228	.	66	O95989	NUDT3_HUMAN	D	66	ENSP00000351650:E66D	ENSP00000351650:E66D	E	-	3	2	NUDT3	34417629	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.537000	0.45702	0.989000	0.38761	0.477000	0.44152	GAA		0.532	NUDT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040224.2			G	34309651	T	G	34309651	3	3	639	1	0	0	0	0	1	0	0	0	10742	1606	56	5	336	5	NUDT3	6	34309651	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	1048802	34309651	136805416	28	34794											
ENPP4	22875	hgsc.bcm.edu	37	6	46108114	46108114	+	Missense_Mutation	SNP	T	T	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:46108114T>G	ENST00000321037.4	+	2	1024	c.794T>G	c.(793-795)tTg>tGg	p.L265W		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	265					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTTATAGATTTGAGCCCAGTT	0.418																																																0													79	78	79					6																	46108114		2203	4300	6503	SO:0001583	missense	22875			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.794T>G	chr6.hg19:g.46108114T>G	ENSP00000318066:p.Leu265Trp		A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	hg19	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	T	9.575	1.121947	0.20877	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72394	-0.65	5.67	1.87	0.25490	Alkaline-phosphatase-like, core domain (1);	0.743246	0.13551	N	0.379453	T	0.33411	0.0862	L	0.41710	1.295	0.24368	N	0.994846	B	0.14438	0.01	B	0.21917	0.037	T	0.20240	-1.0281	10	0.37606	T	0.19	-1.2896	0.3197	0.00301	0.2449:0.1895:0.2931:0.2725	.	265	Q9Y6X5	ENPP4_HUMAN	W	265	ENSP00000318066:L265W	ENSP00000318066:L265W	L	+	2	0	ENPP4	46216073	0.000000	0.05858	0.992000	0.48379	0.972000	0.66771	-0.065000	0.11617	0.400000	0.25396	0.533000	0.62120	TTG		0.418	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			G	46108114	T	G	46108114	3	3	639	1	0	0	0	0	1	0	0	0	5134	1821	63	5	796	5	ENPP4	6	46108114	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	11798463	46108114	125006953	29	34795											
DOPEY1	23033	hgsc.bcm.edu	37	6	83862020	83862020	+	Silent	SNP	T	T	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:83862020T>A	ENST00000349129.2	+	30	6323	c.6063T>A	c.(6061-6063)ccT>ccA	p.P2021P	DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.P2012P	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2021					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGTTATCACCTGCAATGGAAA	0.313																																																0													59	59	59					6																	83862020		2203	4292	6495	SO:0001819	synonymous_variant	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6063T>A	chr6.hg19:g.83862020T>A			Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	hg19	CCDS4996.1																																																																																				0.313	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		A	83862020	T	A	83862020	2	1	639	1	0	0	0	0	0	0	0	1	4709	1567	55	5		5	DOPEY1	6	83862020	Silent	SNP	T	TCGA-EV-5903-01A-11D-1589-08	37753906	83862020	87253047	30	34796											
CDC40	51362	hgsc.bcm.edu	37	6	110528715	110528715	+	Missense_Mutation	SNP	C	C	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:110528715C>T	ENST00000368932.1	+	5	514	c.413C>T	c.(412-414)gCa>gTa	p.A138V	CDC40_ENST00000368930.1_Missense_Mutation_p.A138V|CDC40_ENST00000307731.1_Missense_Mutation_p.A138V			O60508	PRP17_HUMAN	cell division cycle 40	138					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TCAGGTTATGCATTAGACCCT	0.249																																																0													98	107	104					6																	110528715		2203	4295	6498	SO:0001583	missense	51362			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.413C>T	chr6.hg19:g.110528715C>T	ENSP00000357928:p.Ala138Val		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	hg19	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333199	0.95758	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165;ENST00000453107	T;T;T;T	0.67171	-0.09;-0.25;-0.25;-0.09	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79405	0.4440	M	0.86805	2.84	0.80722	D	1	D	0.67145	0.996	P	0.55965	0.788	T	0.82794	-0.0281	10	0.87932	D	0	-9.413	19.9384	0.97150	0.0:1.0:0.0:0.0	.	138	O60508	PRP17_HUMAN	V	138;138;138;138;138;35	ENSP00000357928:A138V;ENSP00000357929:A138V;ENSP00000357926:A138V;ENSP00000304370:A138V	ENSP00000304370:A138V	A	+	2	0	CDC40	110635408	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.252000	0.78309	2.717000	0.92951	0.585000	0.79938	GCA		0.249	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		T	110528715	C	T	110528715	3	4	639	1	0	0	0	0	1	0	0	0	3072	710	25	2	427	2	CDC40	6	110528715	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08	26666695	110528715	60586352	31	34797											
SLC16A10	117247	hgsc.bcm.edu	37	6	111409219	111409219	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:111409219G>T	ENST00000368851.5	+	1	439	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	88					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCGGCATCCAGAACGCTTGCG	0.662																																																0													51	41	44					6																	111409219		2203	4299	6502	SO:0001583	missense	117247			AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"Solute carriers"	17027	protein-coding gene	gene with protein product		607550	"solute carrier family 16 (monocarboxylic acid transporters), member 10"			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.264G>T	chr6.hg19:g.111409219G>T	ENSP00000357844:p.Gln88His		B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	hg19	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846966	0.71603	.	.	ENSG00000112394	ENST00000535637;ENST00000368851	T	0.59364	0.27	3.79	3.79	0.43588	Major facilitator superfamily domain, general substrate transporter (1);	0.071282	0.64402	D	0.000016	T	0.33876	0.0878	N	0.13235	0.315	0.80722	D	1	P;B	0.42375	0.778;0.339	P;B	0.44647	0.456;0.134	T	0.37526	-0.9702	10	0.44086	T	0.13	.	15.8498	0.78921	0.0:0.0:1.0:0.0	.	88;88	Q8TF71;Q05BR4	MOT10_HUMAN;.	H	88	ENSP00000357844:Q88H	ENSP00000357844:Q88H	Q	+	3	2	SLC16A10	111515912	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.303000	0.89955	1.950000	0.56595	0.448000	0.29417	CAG		0.662	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			T	111409219	G	T	111409219	3	4	639	1	0	0	0	0	1	0	0	0	14409	933	33	4	266	4	SLC16A10	6	111409219	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	880504	111409219	59705848	32	34798											
MAP7	9053	hgsc.bcm.edu	37	6	136693761	136693761	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:136693761delA	ENST00000354570.3	-	8	1164	c.754delT	c.(754-756)tctfs	p.S252fs	MAP7_ENST00000432797.2_Frame_Shift_Del_p.S106fs|MAP7_ENST00000438100.2_Frame_Shift_Del_p.S237fs|MAP7_ENST00000454590.1_Frame_Shift_Del_p.S274fs|MAP7_ENST00000544465.1_Frame_Shift_Del_p.S237fs	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	252					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GGGCTGCAAGATGCTGAACGA	0.488																																																0													175	153	161					6																	136693761		2203	4300	6503	SO:0001589	frameshift_variant	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.754delT	chr6.hg19:g.136693761delA	ENSP00000346581:p.Ser252fs		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Frame_Shift_Del	DEL	ENST00000354570.3	hg19	CCDS5178.1																																																																																				0.488	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		-	136693761	A	-	136693761	7	5	639	1	0	1	0	1	0	0	0	0	9268	333	12	0	1539	0	MAP7	6	136693761	Frame_Shift_Del	DEL	A	TCGA-EV-5903-01A-11D-1589-08	25284542	136693761	34421306	33	34799											
SHPRH	257218	hgsc.bcm.edu	37	6	146264642	146264642	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:146264642delT	ENST00000367505.2	-	9	2139	c.1875delA	c.(1873-1875)caafs	p.Q625fs	SHPRH_ENST00000438092.2_Frame_Shift_Del_p.Q625fs|SHPRH_ENST00000367503.3_Frame_Shift_Del_p.Q625fs|SHPRH_ENST00000275233.7_Frame_Shift_Del_p.Q625fs			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	625					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTCATGTTCTTGGTTGAATT	0.408																																																0													196	183	187					6																	146264642		1952	4153	6105	SO:0001589	frameshift_variant	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1875delA	chr6.hg19:g.146264642delT	ENSP00000356475:p.Gln625fs		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Frame_Shift_Del	DEL	ENST00000367505.2	hg19	CCDS43513.2																																																																																				0.408	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		-	146264642	T	-	146264642	7	5	639	1	0	1	0	1	0	0	0	0	14297	1606	56	0	3308	0	SHPRH	6	146264642	Frame_Shift_Del	DEL	T	TCGA-EV-5903-01A-11D-1589-08	9570881	146264642	24850425	34	34800											
C7orf27	221927	hgsc.bcm.edu	37	7	2587034	2587034	+	Missense_Mutation	SNP	C	C	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr7:2587034C>G	ENST00000340611.4	-	3	462	c.206G>C	c.(205-207)aGt>aCt	p.S69T		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	69					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GACCCCAGAACTCAGGTCCTG	0.622																																																0													85	79	81					7																	2587034		2203	4300	6503	SO:0001583	missense	221927			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.206G>C	chr7.hg19:g.2587034C>G	ENSP00000339637:p.Ser69Thr		A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	hg19	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	C	9.253	1.041205	0.19669	.	.	ENSG00000106009	ENST00000340611	T	0.71103	-0.54	5.01	4.11	0.48088	Armadillo-type fold (1);	0.211492	0.47093	D	0.000255	T	0.68091	0.2963	M	0.72118	2.19	0.09310	N	1	B;P	0.46987	0.184;0.888	B;B	0.42163	0.208;0.378	T	0.66705	-0.5856	10	0.59425	D	0.04	-13.2539	9.9258	0.41492	0.0:0.8427:0.0:0.1573	.	69;69	Q6PJG6-2;Q6PJG6	.;BRAT1_HUMAN	T	69	ENSP00000339637:S69T	ENSP00000339637:S69T	S	-	2	0	BRAT1	2553560	0.000000	0.05858	0.026000	0.17262	0.004000	0.04260	0.191000	0.17076	2.331000	0.79229	0.650000	0.86243	AGT		0.622	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		G	2587034	C	G	2587034	3	3	639	1	0	0	0	0	1	0	0	0	2384	565	20	4	2307	4	C7orf27	7	2587034	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08		2587034	156551629	35	34801											
SCIN	85477	hgsc.bcm.edu	37	7	12679988	12679988	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr7:12679988G>A	ENST00000297029.5	+	11	1528	c.1427G>A	c.(1426-1428)gGc>gAc	p.G476D	SCIN_ENST00000445618.2_Missense_Mutation_p.G229D|SCIN_ENST00000519209.1_Missense_Mutation_p.G229D	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	476	Ca(2+)-dependent actin binding.			G -> D (in Ref. 1; AAK60494). {ECO:0000305}.	actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GTCTCCCAAGGCAAAGAGCCT	0.428																																																0													54	52	53					7																	12679988		1843	4090	5933	SO:0001583	missense	85477			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1427G>A	chr7.hg19:g.12679988G>A	ENSP00000297029:p.Gly476Asp		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	hg19	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435588	0.83885	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.27256	1.68;1.68;1.68	4.56	4.56	0.56223	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69807	-0.5045	10	0.87932	D	0	-12.3981	17.3228	0.87240	0.0:0.0:1.0:0.0	.	476	Q9Y6U3	ADSV_HUMAN	D	476;229;229	ENSP00000297029:G476D;ENSP00000430997:G229D;ENSP00000390189:G229D	ENSP00000297029:G476D	G	+	2	0	SCIN	12646513	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.476000	0.97823	2.069000	0.61940	0.561000	0.74099	GGC		0.428	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		A	12679988	G	A	12679988	3	1	639	1	0	0	0	0	1	0	0	0	13911	1203	42	2	1469	2	SCIN	7	12679988	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	10092954	12679988	146458675	36	34802											
IMMP2L	83943	hgsc.bcm.edu	37	7	111127299	111127299	+	Silent	SNP	T	T	A	rs201012120		TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr7:111127299T>A	ENST00000405709.2	-	3	676	c.234A>T	c.(232-234)tcA>tcT	p.S78S	IMMP2L_ENST00000437687.1_Silent_p.S78S|IMMP2L_ENST00000447215.1_Silent_p.S78S|IMMP2L_ENST00000415362.1_Silent_p.S78S|IMMP2L_ENST00000331762.3_Silent_p.S78S|IMMP2L_ENST00000452895.1_Silent_p.S78S	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	78					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CTTACACCAATGATACAATGT	0.363																																																0													102	99	100					7																	111127299		2203	4300	6503	SO:0001819	synonymous_variant	83943			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)", "IMMP2L intronic transcript 1 (non-protein coding)"	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.234A>T	chr7.hg19:g.111127299T>A			Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	ENST00000405709.2	hg19	CCDS5753.1																																																																																				0.363	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549		A	111127299	T	A	111127299	2	1	639	1	0	0	0	0	0	0	0	1	7719	1451	51	5		5	IMMP2L	7	111127299	Silent	SNP	T	TCGA-EV-5903-01A-11D-1589-08	98447311	111127299	48011364	37	34803											
SSPO	23145	hgsc.bcm.edu	37	7	149509420	149509420	+	RNA	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr7:149509420G>A	ENST00000378016.2	+	0	9818							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGGCCTGCGGAGCCGGACC	0.726																																																0													6	7	7					7																	149509420		1692	3840	5532			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		chr7.hg19:g.149509420G>A			Q76B61	Missense_Mutation	SNP	ENST00000378016.2	hg19																																																																																					0.726	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				A	149509420	G	A	149509420	1	1	639	0	1	0	0	0	0	0	0	0	15194	1116	39	1		1	SSPO	7	149509420	RNA	SNP	G	TCGA-EV-5903-01A-11D-1589-08	38382121	149509420	9629243	38	34804											
RRS1	23212	hgsc.bcm.edu	37	8	67342373	67342373	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr8:67342373G>A	ENST00000320270.2	+	1	1111	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	ADHFE1_ENST00000396623.3_5'Flank|RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000379385.4_5'Flank|ADHFE1_ENST00000415254.1_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	336	Arg/Gly/Lys-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AAGAGGAAAGGGGGCTTGGGA	0.602																																																0													34	44	41					8																	67342373		2192	4287	6479	SO:0001583	missense	23212			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.1007G>A	chr8.hg19:g.67342373G>A	ENSP00000322396:p.Gly336Glu		Q9BUX8	Missense_Mutation	SNP	ENST00000320270.2	hg19	CCDS6189.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170934	0.38315	.	.	ENSG00000179041	ENST00000320270	D	0.89552	-2.53	5.26	4.38	0.52667	.	0.233360	0.44688	D	0.000435	D	0.87621	0.6223	M	0.77486	2.375	0.52501	D	0.999957	B	0.24043	0.096	B	0.18263	0.021	D	0.85609	0.1257	10	0.62326	D	0.03	-32.1208	10.2291	0.43245	0.1636:0.0:0.8364:0.0	.	336	Q15050	RRS1_HUMAN	E	336	ENSP00000322396:G336E	ENSP00000322396:G336E	G	+	2	0	RRS1	67504927	0.999000	0.42202	0.810000	0.32431	0.561000	0.35649	2.865000	0.48412	1.369000	0.46134	0.537000	0.68136	GGG		0.602	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	NM_015169		A	67342373	G	A	67342373	3	1	639	1	0	0	0	0	1	0	0	0	13698	1232	43	2	1009	2	RRS1	8	67342373	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08		67342373	79021649	39	34805											
TTC35	9694	hgsc.bcm.edu	37	8	109462688	109462688	+	Silent	SNP	A	A	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr8:109462688A>T	ENST00000220853.3	+	3	221	c.186A>T	c.(184-186)gcA>gcT	p.A62A		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	62						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TGATGATTGCAGCACTAGACT	0.308																																																0													206	200	202					8																	109462688		2203	4300	6503	SO:0001819	synonymous_variant	9694			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.186A>T	chr8.hg19:g.109462688A>T			Q8WUE1	Silent	SNP	ENST00000220853.3	hg19	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	A	8.680	0.904927	0.17760	.	.	ENSG00000104412	ENST00000519642	.	.	.	5.86	-9.77	0.00500	.	.	.	.	.	T	0.43743	0.1261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52328	-0.8590	4	.	.	.	-10.7326	6.6457	0.22934	0.3445:0.0:0.3347:0.3207	.	.	.	.	L	10	.	.	Q	+	2	0	TTC35	109531864	0.354000	0.24912	0.564000	0.28396	0.612000	0.37316	-0.270000	0.08584	-1.322000	0.02278	-1.132000	0.01976	CAG		0.308	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		T	109462688	A	T	109462688	2	4	639	1	0	0	0	0	0	0	0	1	16708	175	7	5		5	TTC35	8	109462688	Silent	SNP	A	TCGA-EV-5903-01A-11D-1589-08	42120315	109462688	36901334	40	34806											
C9orf72	203228	hgsc.bcm.edu	37	9	27548367	27548367	+	Missense_Mutation	SNP	T	T	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:27548367T>A	ENST00000380003.3	-	11	1376	c.1313A>T	c.(1312-1314)gAt>gTt	p.D438V	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	438					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TGCTGTTAAATCAAGGTCTAT	0.348																																																0													99	100	100					9																	27548367		2203	4300	6503	SO:0001583	missense	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1313A>T	chr9.hg19:g.27548367T>A	ENSP00000369339:p.Asp438Val		A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	hg19	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338256	0.81911	.	.	ENSG00000147894	ENST00000380003	T	0.52057	0.68	5.75	5.75	0.90469	.	0.042474	0.85682	D	0.000000	T	0.52789	0.1756	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.51513	-0.8696	9	.	.	.	.	16.0488	0.80740	0.0:0.0:0.0:1.0	.	438	Q96LT7	CI072_HUMAN	V	438	ENSP00000369339:D438V	.	D	-	2	0	C9orf72	27538367	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.199000	0.70637	0.374000	0.22700	GAT		0.348	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		A	27548367	T	A	27548367	3	1	639	1	0	0	0	0	1	0	0	0	2497	1435	50	5	136	5	C9orf72	9	27548367	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08		27548367	113665064	41	34807											
NFX1	4799	hgsc.bcm.edu	37	9	33319104	33319106	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:33319104_33319106delCCT	ENST00000379540.3	+	9	1947_1949	c.1885_1887delCCT	c.(1885-1887)cctdel	p.P629del	NFX1_ENST00000318524.6_In_Frame_Del_p.P629del|NFX1_ENST00000379521.4_In_Frame_Del_p.P629del	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	629					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTGCGGCAAGCCTCTGCCTTGTG	0.438																																																0																																										SO:0001651	inframe_deletion	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1885_1887delCCT	chr9.hg19:g.33319104_33319106delCCT	ENSP00000368856:p.Pro629del		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	In_Frame_Del	DEL	ENST00000379540.3	hg19	CCDS6538.1																																																																																				0.438	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			-	33319106	CCT	-	33319104	7	5	639	1	0	1	0	1	0	0	0	0	10389	739	26	0	1919	0	NFX1	9	33319104	In_Frame_Del	DEL	CCT	TCGA-EV-5903-01A-11D-1589-08	5770737	33319104	107894327	42	34808											
FLJ46321	389763	hgsc.bcm.edu	37	9	84605892	84605892	+	Silent	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:84605892G>A	ENST00000344803.2	+	4	554	c.507G>A	c.(505-507)tcG>tcA	p.S169S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	169					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTGAGTCATCGTTCACTCTGG	0.562																																																0													123	123	123					9																	84605892		2001	4169	6170	SO:0001819	synonymous_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.507G>A	chr9.hg19:g.84605892G>A				Silent	SNP	ENST00000344803.2	hg19	CCDS47986.1																																																																																				0.562	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		A	84605892	G	A	84605892	2	1	639	1	0	0	0	0	0	0	0	1	5934	1132	40	1		1	FLJ46321	9	84605892	Silent	SNP	G	TCGA-EV-5903-01A-11D-1589-08	51286788	84605892	56607539	43	34809											
PHF2	5253	hgsc.bcm.edu	37	9	96416716	96416716	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:96416716A>C	ENST00000359246.4	+	7	1178	c.811A>C	c.(811-813)Atc>Ctc	p.I271L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	271	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CTTCTATCTCATCAGGCCGGC	0.587																																																0													59	56	57					9																	96416716		2203	4300	6503	SO:0001583	missense	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.811A>C	chr9.hg19:g.96416716A>C	ENSP00000352185:p.Ile271Leu		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	hg19	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	A	32	5.129480	0.94473	.	.	ENSG00000197724	ENST00000359246	T	0.74947	-0.89	4.79	4.79	0.61399	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.87026	0.6075	M	0.86028	2.79	0.80722	D	1	D	0.55385	0.971	D	0.76575	0.988	D	0.89290	0.3618	10	0.87932	D	0	-32.051	14.5008	0.67719	1.0:0.0:0.0:0.0	.	271	O75151	PHF2_HUMAN	L	271	ENSP00000352185:I271L	ENSP00000352185:I271L	I	+	1	0	PHF2	95456537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.037000	0.93765	2.008000	0.58898	0.477000	0.44152	ATC		0.587	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		C	96416716	A	C	96416716	3	2	639	1	0	0	0	0	1	0	0	0	11832	217	8	5	837	5	PHF2	9	96416716	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08	11810824	96416716	44796715	44	34810											
ABCA1	19	hgsc.bcm.edu	37	9	107599352	107599352	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:107599352G>T	ENST00000374736.3	-	11	1614	c.1220C>A	c.(1219-1221)gCt>gAt	p.A407D		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	407					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ATGGAACACAGCCAGTTCCTG	0.552																																																0													86	71	76					9																	107599352		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1220C>A	chr9.hg19:g.107599352G>T	ENSP00000363868:p.Ala407Asp		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	hg19	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.773257	0.49786	.	.	ENSG00000165029	ENST00000374736	D	0.85861	-2.04	5.7	4.76	0.60689	.	0.209202	0.49916	D	0.000130	T	0.76807	0.4039	L	0.28192	0.835	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.70454	-0.4867	10	0.27082	T	0.32	.	15.0006	0.71469	0.0:0.2679:0.7321:0.0	.	407	O95477	ABCA1_HUMAN	D	407	ENSP00000363868:A407D	ENSP00000363868:A407D	A	-	2	0	ABCA1	106639173	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.271000	0.65553	2.687000	0.91594	0.655000	0.94253	GCT		0.552	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		T	107599352	G	T	107599352	3	4	639	1	0	0	0	0	1	0	0	0	28	971	34	4	5725	4	ABCA1	9	107599352	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	11182636	107599352	33614079	45	34811											
NUP188	23511	hgsc.bcm.edu	37	9	131755475	131755475	+	Splice_Site	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:131755475G>A	ENST00000372577.2	+	26	2661		c.e26-1			NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTCTCCACCAGGTGGCCCCAA	0.537											OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													100	99	99					9																	131755475		2203	4300	6503	SO:0001630	splice_region_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2641-1G>A	chr9.hg19:g.131755475G>A		1590	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Splice_Site	SNP	ENST00000372577.2	hg19	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417591	0.83449	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4831	0.95018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP188	130795296	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.423000	0.80229	2.848000	0.98002	0.655000	0.94253	.		0.537	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		Intron	A	131755475	G	A	131755475	5	1	639	1	0	0	0	0	0	0	1	0	10760	1014	35	2	2742	2	NUP188	9	131755475	Splice_Site	SNP	G	TCGA-EV-5903-01A-11D-1589-08	24156123	131755475	9457956	46	34812											
USP20	10868	hgsc.bcm.edu	37	9	132618631	132618631	+	Missense_Mutation	SNP	T	T	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:132618631T>A	ENST00000315480.4	+	4	285	c.127T>A	c.(127-129)Tgt>Agt	p.C43S	USP20_ENST00000358355.1_Missense_Mutation_p.C43S|USP20_ENST00000372429.3_Missense_Mutation_p.C43S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	43					endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCTATGGGCCTGTCTGCAGGT	0.582																																																0													136	137	137					9																	132618631		1947	4141	6088	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.127T>A	chr9.hg19:g.132618631T>A	ENSP00000313811:p.Cys43Ser		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	hg19	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816658	0.90790	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.72282	-0.64;-0.64;-0.64	4.99	4.99	0.66335	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	H	0.97611	4.04	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.92667	0.6146	10	0.87932	D	0	.	13.5285	0.61609	0.0:0.0:0.0:1.0	.	43	Q9Y2K6	UBP20_HUMAN	S	43	ENSP00000361506:C43S;ENSP00000313811:C43S;ENSP00000351122:C43S	ENSP00000313811:C43S	C	+	1	0	USP20	131658452	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.432000	0.80349	1.880000	0.54463	0.460000	0.39030	TGT		0.582	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			A	132618631	T	A	132618631	3	1	639	1	0	0	0	0	1	0	0	0	17057	1580	55	5	133	5	USP20	9	132618631	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	863156	132618631	8594800	47	34813											
ABL1	25	hgsc.bcm.edu	37	9	133730265	133730265	+	Missense_Mutation	SNP	G	G	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:133730265G>C	ENST00000318560.5	+	3	712	c.331G>C	c.(331-333)Gtc>Ctc	p.V111L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	111	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCAAGGCTGGGTCCCAAGCAA	0.522			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													107	89	95					9																	133730265		2203	4300	6503	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.331G>C	chr9.hg19:g.133730265G>C	ENSP00000323315:p.Val111Leu		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	hg19	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	36	5.707803	0.96821	.	.	ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560	T;T	0.55930	0.49;0.49	5.67	5.67	0.87782	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.75057	0.3798	M	0.90977	3.165	0.80722	D	1	P;P	0.39862	0.692;0.692	P;P	0.51016	0.656;0.656	T	0.79553	-0.1756	10	0.87932	D	0	.	18.8246	0.92111	0.0:0.0:1.0:0.0	.	111;148	P00519;Q59FK4	ABL1_HUMAN;.	L	130;157;111	ENSP00000361423:V130L;ENSP00000323315:V111L	ENSP00000323315:V111L	V	+	1	0	ABL1	132720086	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.812000	0.99227	2.677000	0.91161	0.638000	0.83543	GTC		0.522	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		C	133730265	G	C	133730265	3	2	639	1	0	0	0	0	1	0	0	0	92	1261	44	4	481	4	ABL1	9	133730265	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	1111634	133730265	7483166	48	34814											
LARP4B	23185	hgsc.bcm.edu	37	10	858887	858887	+	Silent	SNP	A	A	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:858887A>G	ENST00000316157.3	-	17	2236	c.2196T>C	c.(2194-2196)acT>acC	p.T732T	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	732					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ACTTGGGGGGAGTGCTCTGCT	0.662																																																0													36	40	39					10																	858887		2202	4298	6500	SO:0001819	synonymous_variant	23185			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.2196T>C	chr10.hg19:g.858887A>G			A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	hg19	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	A	6.457	0.452392	0.12283	.	.	ENSG00000107929	ENST00000448368	.	.	.	6.07	-5.87	0.02297	.	.	.	.	.	T	0.39036	0.1063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	-3.3912	3.9687	0.09443	0.1675:0.3281:0.3845:0.12	.	.	.	.	P	333	.	.	S	-	1	0	LARP4B	848887	0.998000	0.40836	0.905000	0.35620	0.944000	0.59088	0.260000	0.18424	-0.881000	0.03992	-1.236000	0.01555	TCC		0.662	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		G	858887	A	G	858887	2	3	639	1	0	0	0	0	0	0	0	1	8633	291	11	3		3	LARP4B	10	858887	Silent	SNP	A	TCGA-EV-5903-01A-11D-1589-08		858887	134675860	49	34815											
PITRM1	10531	hgsc.bcm.edu	37	10	3191832	3191832	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:3191832A>C	ENST00000224949.4	-	16	1886	c.1852T>G	c.(1852-1854)Ttc>Gtc	p.F618V	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.F618V|PITRM1_ENST00000451104.2_Missense_Mutation_p.F586V|PITRM1_ENST00000380994.1_Missense_Mutation_p.F176V|PITRM1_ENST00000464395.1_5'Flank|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	618					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACGCTGCAGAAGAGGGGCACA	0.517																																																0													183	187	186					10																	3191832		2033	4194	6227	SO:0001583	missense	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1852T>G	chr10.hg19:g.3191832A>C	ENSP00000224949:p.Phe618Val		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	hg19	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	a	22.4	4.280763	0.80692	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.41	4.28	0.50868	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	M	0.90309	3.105	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.97;0.997;1.0;1.0;1.0	P;D;D;D;D	0.85130	0.824;0.994;0.997;0.997;0.997	T	0.73582	-0.3937	10	0.87932	D	0	.	11.2282	0.48897	0.9278:0.0:0.0722:0.0	.	611;586;618;618;611	E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.;.;.;PREP_HUMAN;.	V	618;611;618;176;586	ENSP00000224949:F618V;ENSP00000370377:F618V;ENSP00000370382:F176V;ENSP00000401201:F586V	ENSP00000224949:F618V	F	-	1	0	PITRM1	3181832	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.161000	0.77505	0.900000	0.36469	0.454000	0.30748	TTC		0.517	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			C	3191832	A	C	3191832	3	2	639	1	0	0	0	0	1	0	0	0	11955	72	3	5	1309	5	PITRM1	10	3191832	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08	2332945	3191832	132342915	50	34816											
CSGALNACT2	55454	hgsc.bcm.edu	37	10	43651227	43651227	+	Silent	SNP	A	A	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:43651227A>G	ENST00000374466.3	+	2	965	c.630A>G	c.(628-630)aaA>aaG	p.K210K	CSGALNACT2_ENST00000374464.1_Silent_p.K210K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	210					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTGGAGAGAAACTGATATTTA	0.363																																																0													44	46	46					10																	43651227		2203	4299	6502	SO:0001819	synonymous_variant	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.630A>G	chr10.hg19:g.43651227A>G			B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	hg19	CCDS7201.1																																																																																				0.363	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		G	43651227	A	G	43651227	2	3	639	1	0	0	0	0	0	0	0	1	3941	40	2	3		3	CSGALNACT2	10	43651227	Silent	SNP	A	TCGA-EV-5903-01A-11D-1589-08	40459395	43651227	91883520	51	34817											
POLR3A	11128	hgsc.bcm.edu	37	10	79741971	79741971	+	Missense_Mutation	SNP	C	C	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:79741971C>G	ENST00000372371.3	-	28	3837	c.3700G>C	c.(3700-3702)Gca>Cca	p.A1234P		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1234					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCATGACTGCCCGCAGGTTA	0.567																																																0													188	151	163					10																	79741971		2203	4300	6503	SO:0001583	missense	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3700G>C	chr10.hg19:g.79741971C>G	ENSP00000361446:p.Ala1234Pro		Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	hg19	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192613	0.58017	.	.	ENSG00000148606	ENST00000539141;ENST00000372371;ENST00000540842	T	0.78126	-1.15	5.99	5.99	0.97316	RNA polymerase Rpb1, domain 5 (1);	0.051369	0.85682	D	0.000000	D	0.83718	0.5315	M	0.87097	2.86	0.58432	D	0.999998	P	0.35155	0.487	B	0.42112	0.376	T	0.83056	-0.0150	9	.	.	.	-11.4876	15.1985	0.73116	0.1408:0.8591:0.0:0.0	.	1234	O14802	RPC1_HUMAN	P	50;1234;1213	ENSP00000361446:A1234P	.	A	-	1	0	POLR3A	79411977	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	4.200000	0.58433	2.843000	0.97960	0.655000	0.94253	GCA		0.567	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		G	79741971	C	G	79741971	3	3	639	1	0	0	0	0	1	0	0	0	12230	739	26	4	488	4	POLR3A	10	79741971	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08	36090744	79741971	55792776	52	34818											
KIAA1598	57698	hgsc.bcm.edu	37	10	118689489	118689489	+	Missense_Mutation	SNP	C	C	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:118689489C>T	ENST00000355371.4	-	10	1380	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	KIAA1598_ENST00000392901.4_Missense_Mutation_p.E235K|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E295K|KIAA1598_ENST00000260777.10_Missense_Mutation_p.E295K|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	295					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GTTTCATTTTCTAGTTGCTCT	0.308																																																0													163	152	155					10																	118689489		2201	4298	6499	SO:0001583	missense	57698			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.883G>A	chr10.hg19:g.118689489C>T	ENSP00000347532:p.Glu295Lys		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	hg19	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982973	0.34942	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.75260	1.61;1.61;1.61;-0.92	5.35	4.45	0.53987	.	0.493073	0.23371	N	0.048907	T	0.65626	0.2709	L	0.52573	1.65	0.32981	D	0.52363	B;B;B	0.26845	0.069;0.008;0.161	B;B;B	0.24701	0.055;0.022;0.033	T	0.67643	-0.5618	10	0.23891	T	0.37	-14.1816	9.9478	0.41621	0.1475:0.6917:0.1608:0.0	.	295;295;265	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	K	295;295;295;235	ENSP00000376636:E295K;ENSP00000260777:E295K;ENSP00000347532:E295K;ENSP00000376635:E235K	ENSP00000260777:E295K	E	-	1	0	KIAA1598	118679479	0.984000	0.35163	0.971000	0.41717	0.986000	0.74619	2.414000	0.44627	1.404000	0.46819	0.561000	0.74099	GAA		0.308	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		T	118689489	C	T	118689489	3	4	639	1	0	0	0	0	1	0	0	0	8248	922	32	2	1044	2	KIAA1598	10	118689489	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08	38947518	118689489	16845258	53	34819	258	2									
KIAA1598	57698	hgsc.bcm.edu	37	10	118689491	118689491	+	Missense_Mutation	SNP	A	A	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:118689491A>G	ENST00000355371.4	-	10	1378	c.881T>C	c.(880-882)cTa>cCa	p.L294P	KIAA1598_ENST00000392901.4_Missense_Mutation_p.L234P|KIAA1598_ENST00000392903.2_Missense_Mutation_p.L294P|KIAA1598_ENST00000260777.10_Missense_Mutation_p.L294P|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	294					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTCATTTTCTAGTTGCTCTTC	0.303																																																0													161	150	154					10																	118689491		2201	4298	6499	SO:0001583	missense	57698			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.881T>C	chr10.hg19:g.118689491A>G	ENSP00000347532:p.Leu294Pro		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	hg19	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723729	0.68959	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.24538	2.72;2.72;2.72;1.85	5.35	5.35	0.76521	.	0.239875	0.36268	N	0.002695	T	0.48978	0.1530	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.87578	0.998;0.994;0.996	T	0.49273	-0.8957	10	0.59425	D	0.04	-9.5016	13.8675	0.63598	1.0:0.0:0.0:0.0	.	294;294;264	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	P	294;294;294;234	ENSP00000376636:L294P;ENSP00000260777:L294P;ENSP00000347532:L294P;ENSP00000376635:L234P	ENSP00000260777:L294P	L	-	2	0	KIAA1598	118679481	0.999000	0.42202	0.840000	0.33206	0.981000	0.71138	5.819000	0.69243	2.163000	0.67991	0.459000	0.35465	CTA		0.303	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		G	118689491	A	G	118689491	3	3	639	1	0	0	0	0	1	0	0	0	8248	420	15	3	1046	3	KIAA1598	10	118689491	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08	2	118689491	16845256	54	34820	258	2									
GLRX3	10539	hgsc.bcm.edu	37	10	131964822	131964822	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:131964822G>T	ENST00000368644.1	+	5	552	c.530G>T	c.(529-531)aGc>aTc	p.S177I	GLRX3_ENST00000331244.5_Missense_Mutation_p.S177I	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	177	Glutaredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		ATTCAGTTTAGCAGTTTTGAT	0.393																																																0													122	121	122					10																	131964822		2203	4300	6503	SO:0001583	missense	10539			AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"glutaredoxin 4"	612754	"thioredoxin-like 2"	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.530G>T	chr10.hg19:g.131964822G>T	ENSP00000357633:p.Ser177Ile		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	hg19	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573832	0.86542	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.29917	1.55;1.55	5.0	5.0	0.66597	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	L	0.28649	0.875	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	T	0.23440	-1.0188	10	0.35671	T	0.21	-14.9931	17.3131	0.87215	0.0:0.0:1.0:0.0	.	177	O76003	GLRX3_HUMAN	I	177	ENSP00000330836:S177I;ENSP00000357633:S177I	ENSP00000330836:S177I	S	+	2	0	GLRX3	131854812	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.365000	0.97139	2.323000	0.78572	0.655000	0.94253	AGC		0.393	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		T	131964822	G	T	131964822	3	4	639	1	0	0	0	0	1	0	0	0	6463	971	34	4	548	4	GLRX3	10	131964822	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	13275331	131964822	3569925	55	34821											
LRRC56	115399	hgsc.bcm.edu	37	11	552211	552211	+	Missense_Mutation	SNP	C	C	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:552211C>T	ENST00000270115.7	+	12	1660	c.1160C>T	c.(1159-1161)gCc>gTc	p.A387V		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	387										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCTCAGGGCCTGGAGGGAA	0.657																																																0													41	44	43					11																	552211		2202	4300	6502	SO:0001583	missense	115399				CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1160C>T	chr11.hg19:g.552211C>T	ENSP00000270115:p.Ala387Val		Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	hg19	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420638	0.62622	.	.	ENSG00000161328	ENST00000270115	T	0.15952	2.38	4.38	4.38	0.52667	.	0.301734	0.24145	N	0.041134	T	0.14570	0.0352	L	0.27053	0.805	0.35067	D	0.762095	P	0.43287	0.802	B	0.42245	0.381	T	0.15549	-1.0433	10	0.59425	D	0.04	0.5026	12.6067	0.56527	0.0:1.0:0.0:0.0	.	387	Q8IYG6	LRC56_HUMAN	V	387	ENSP00000270115:A387V	ENSP00000270115:A387V	A	+	2	0	LRRC56	542211	0.208000	0.23494	0.120000	0.21714	0.036000	0.12997	2.410000	0.44592	2.441000	0.82636	0.561000	0.74099	GCC		0.657	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		T	552211	C	T	552211	3	4	639	1	0	0	0	0	1	0	0	0	9014	739	26	2	1194	2	LRRC56	11	552211	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08		552211	134454305	56	34822											
TPP1	8642	hgsc.bcm.edu	37	11	6640045	6640045	+	IGR	SNP	A	A	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:6640045A>C	ENST00000299441.3	-	0	10763				TPP1_ENST00000528657.1_3'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_Missense_Mutation_p.L64R|TPP1_ENST00000534644.1_Intron|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000533371.1_5'UTR	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCTGCACCAGCTCCGAGAG	0.622																																																0													77	68	71					11																	6640045		2201	4296	6497	SO:0001628	intergenic_variant	1200			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		chr11.hg19:g.6640045A>C			O15098	Missense_Mutation	SNP	ENST00000299441.3	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196515	0.79015	.	.	ENSG00000166340	ENST00000299427;ENST00000453338;ENST00000436873	T;T	0.70516	-0.49;-0.49	5.64	4.45	0.53987	Proteinase inhibitor, propeptide (1);Peptidase S53, propeptide (2);	0.231767	0.37530	N	0.002054	T	0.72407	0.3456	L	0.48260	1.515	0.80722	D	1	D;D	0.61697	0.99;0.972	P;P	0.59288	0.855;0.639	T	0.68633	-0.5357	10	0.25751	T	0.34	-18.2713	9.3741	0.38272	0.8409:0.0:0.0:0.1591	.	64;64	B4DEQ3;O14773	.;TPP1_HUMAN	R	64	ENSP00000299427:L64R;ENSP00000398136:L64R	ENSP00000299427:L64R	L	-	2	0	TPP1	6596621	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.517000	0.53443	2.146000	0.66826	0.379000	0.24179	CTG		0.622	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		C	6640045	A	C	6640045	1	2	639	0	1	0	0	0	0	0	0	0	16416	188	7	5		5	TPP1	11	6640045	IGR	SNP	A	TCGA-EV-5903-01A-11D-1589-08	6087834	6640045	128366471	57	34823											
F2	2147	hgsc.bcm.edu	37	11	46740795	46740795	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:46740795G>A	ENST00000311907.5	+	1	66	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	F2_ENST00000530231.1_Missense_Mutation_p.V4I	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	4					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TATGGCGCACGTCCGAGGCTT	0.577																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)											0													47	40	42					11																	46740795		2201	4299	6500	SO:0001583	missense	2147			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.10G>A	chr11.hg19:g.46740795G>A	ENSP00000308541:p.Val4Ile		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	hg19	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	4.679	0.126175	0.08931	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.91295	-2.61;-2.82	5.76	1.65	0.23941	.	1.055420	0.07341	N	0.880761	D	0.84293	0.5440	L	0.34521	1.04	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.71258	-0.4646	10	0.87932	D	0	.	4.8209	0.13390	0.3861:0.1476:0.4664:0.0	.	4	P00734	THRB_HUMAN	I	4	ENSP00000308541:V4I;ENSP00000433907:V4I	ENSP00000308541:V4I	V	+	1	0	F2	46697371	0.575000	0.26692	0.994000	0.49952	0.981000	0.71138	0.307000	0.19296	0.047000	0.15862	-0.140000	0.14226	GTC		0.577	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			A	46740795	G	A	46740795	3	1	639	1	0	0	0	0	1	0	0	0	5344	1145	40	1	12	1	F2	11	46740795	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	40100750	46740795	88265721	58	34824											
LRFN4	78999	hgsc.bcm.edu	37	11	66627368	66627368	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:66627368T>A	ENST00000309602.4	+	2	1853	c.1610T>A	c.(1609-1611)tTg>tAg	p.L537*	PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	537						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						ACTGTGGCCTTGCTGGTTCGG	0.711																																																0													34	28	30					11																	66627368		2188	4284	6472	SO:0001587	stop_gained	78999			BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1610T>A	chr11.hg19:g.66627368T>A	ENSP00000312535:p.Leu537*		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Nonsense_Mutation	SNP	ENST00000309602.4	hg19	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	T	39	7.854370	0.98525	.	.	ENSG00000173621	ENST00000309602	.	.	.	4.79	4.79	0.61399	.	0.484734	0.15470	N	0.260642	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2823	0.54771	0.0:0.0:0.0:1.0	.	.	.	.	X	537	.	ENSP00000312535:L537X	L	+	2	0	LRFN4	66383944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.178000	0.58284	1.799000	0.52666	0.379000	0.24179	TTG		0.711	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		A	66627368	T	A	66627368	4	1	639	1	0	0	0	0	0	1	0	0	8942	1821	63	5	1616	5	LRFN4	11	66627368	Nonsense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	19886573	66627368	68379148	59	34825											
PCF11	51585	hgsc.bcm.edu	37	11	82877690	82877690	+	Missense_Mutation	SNP	A	A	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:82877690A>T	ENST00000298281.4	+	5	2203	c.1751A>T	c.(1750-1752)aAt>aTt	p.N584I		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	584					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAAGGAGAATGTAGAAAAC	0.393																																																0													66	66	66					11																	82877690		1824	4044	5868	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1751A>T	chr11.hg19:g.82877690A>T	ENSP00000298281:p.Asn584Ile		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019444	0.54576	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.53206	1.58;0.64;0.63	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000005	T	0.54775	0.1879	L	0.29908	0.895	0.33890	D	0.637211	D;P	0.71674	0.998;0.915	P;B	0.61940	0.896;0.294	T	0.62798	-0.6778	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	584;584	E9PQ01;O94913	.;PCF11_HUMAN	I	584	ENSP00000298281:N584I;ENSP00000434540:N584I;ENSP00000431567:N584I	.	N	+	2	0	PCF11	82555338	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	3.827000	0.55745	2.326000	0.78906	0.533000	0.62120	AAT		0.393	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		T	82877690	A	T	82877690	3	4	639	1	0	0	0	0	1	0	0	0	11575	101	4	5	1769	5	PCF11	11	82877690	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08	16250322	82877690	52128826	60	34826											
PCF11	51585	hgsc.bcm.edu	37	11	82878314	82878314	+	Missense_Mutation	SNP	G	G	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:82878314G>C	ENST00000298281.4	+	6	2417	c.1965G>C	c.(1963-1965)gaG>gaC	p.E655D		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	655					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTCCTAAAGAGTTAACTCTTG	0.368																																																0													62	61	61					11																	82878314		1875	4100	5975	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1965G>C	chr11.hg19:g.82878314G>C	ENSP00000298281:p.Glu655Asp		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165064	0.57476	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.48836	1.78;0.82;0.8	5.98	1.48	0.22813	.	0.000000	0.64402	D	0.000015	T	0.42381	0.1200	L	0.29908	0.895	0.26221	N	0.979152	D;D	0.67145	0.996;0.985	P;P	0.54499	0.754;0.541	T	0.25398	-1.0133	9	.	.	.	.	8.1397	0.31076	0.5069:0.0:0.4931:0.0	.	655;655	E9PQ01;O94913	.;PCF11_HUMAN	D	655	ENSP00000298281:E655D;ENSP00000434540:E655D;ENSP00000431567:E655D	.	E	+	3	2	PCF11	82555962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.998000	0.29744	0.412000	0.25729	0.591000	0.81541	GAG		0.368	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		C	82878314	G	C	82878314	3	2	639	1	0	0	0	0	1	0	0	0	11575	1020	36	4	1987	4	PCF11	11	82878314	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	624	82878314	52128202	61	34827											
SLC6A13	6540	hgsc.bcm.edu	37	12	346349	346349	+	Missense_Mutation	SNP	C	C	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:346349C>G	ENST00000343164.4	-	6	723	c.671G>C	c.(670-672)tGg>tCg	p.W224S	SLC6A13_ENST00000445055.2_Missense_Mutation_p.W132S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	224					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CACCCCCTTCCAGATGCAGAA	0.632																																																0													87	83	84					12																	346349		2203	4300	6503	SO:0001583	missense	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.671G>C	chr12.hg19:g.346349C>G	ENSP00000339260:p.Trp224Ser		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	hg19	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782040	0.90282	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164;ENST00000546319	T;T;T	0.74842	-0.88;-0.88;-0.88	5.5	5.5	0.81552	.	0.054680	0.85682	D	0.000000	D	0.85013	0.5600	M	0.76170	2.325	0.80722	D	1	D;D;D	0.57257	0.979;0.971;0.971	P;P;P	0.59546	0.859;0.827;0.827	D	0.85988	0.1487	10	0.87932	D	0	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	132;203;224	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	S	132;203;224;132	ENSP00000407104:W132S;ENSP00000339260:W224S;ENSP00000444606:W132S	ENSP00000318097:W203S	W	-	2	0	SLC6A13	216610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.905000	0.69893	2.880000	0.98712	0.650000	0.86243	TGG		0.632	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		G	346349	C	G	346349	3	3	639	1	0	0	0	0	1	0	0	0	14682	595	21	4	1177	4	SLC6A13	12	346349	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08		346349	133505546	62	34828											
DCP1B	196513	hgsc.bcm.edu	37	12	2064679	2064679	+	Missense_Mutation	SNP	G	G	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:2064679G>C	ENST00000280665.6	-	6	649	c.570C>G	c.(568-570)atC>atG	p.I190M	DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Missense_Mutation_p.I64M|DCP1B_ENST00000397173.4_Missense_Mutation_p.I88M	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	190					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GATTGTCATAGATGGCAGAGG	0.413																																																0													239	227	231					12																	2064679		2203	4300	6503	SO:0001583	missense	196513			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.570C>G	chr12.hg19:g.2064679G>C	ENSP00000280665:p.Ile190Met		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	hg19	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732160	0.69189	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.23950	2.1;2.1;1.88	5.73	4.84	0.62591	.	0.054750	0.64402	D	0.000001	T	0.49029	0.1533	M	0.67953	2.075	0.45791	D	0.998674	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.971	T	0.51849	-0.8653	10	0.72032	D	0.01	-25.192	13.8354	0.63406	0.0731:0.0:0.9269:0.0	.	88;190	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	M	190;88;64	ENSP00000280665:I190M;ENSP00000380358:I88M;ENSP00000444374:I64M	ENSP00000280665:I190M	I	-	3	3	DCP1B	1934940	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.749000	0.38319	1.426000	0.47256	0.655000	0.94253	ATC		0.413	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		C	2064679	G	C	2064679	3	2	639	1	0	0	0	0	1	0	0	0	4301	932	33	4	1299	4	DCP1B	12	2064679	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	1718330	2064679	131787216	63	34829											
DDX47	51202	hgsc.bcm.edu	37	12	12980185	12980185	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:12980185A>C	ENST00000358007.3	+	11	1134	c.1112A>C	c.(1111-1113)gAt>gCt	p.D371A	DDX47_ENST00000352940.4_Missense_Mutation_p.D322A	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	371	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CTCAGGTATGATGTGGAACTC	0.448																																																0													110	109	110					12																	12980185		2203	4300	6503	SO:0001583	missense	51202			AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.1112A>C	chr12.hg19:g.12980185A>C	ENSP00000350698:p.Asp371Ala		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	hg19	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939470	0.73557	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.52983	0.64;3.36	5.64	5.64	0.86602	Helicase, C-terminal (1);	0.050495	0.85682	D	0.000000	T	0.73560	0.3602	M	0.89287	3.02	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.982;0.971	T	0.79650	-0.1715	10	0.87932	D	0	-16.8971	15.8578	0.78994	1.0:0.0:0.0:0.0	.	322;371	G5E955;Q9H0S4	.;DDX47_HUMAN	A	322;371	ENSP00000319578:D322A;ENSP00000350698:D371A	ENSP00000319578:D322A	D	+	2	0	DDX47	12871452	1.000000	0.71417	0.944000	0.38274	0.435000	0.31806	8.932000	0.92897	2.147000	0.66899	0.533000	0.62120	GAT		0.448	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		C	12980185	A	C	12980185	3	2	639	1	0	0	0	0	1	0	0	0	4367	333	12	5	1154	5	DDX47	12	12980185	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08	10915506	12980185	120871710	64	34830											
ITPR2	3709	hgsc.bcm.edu	37	12	26810769	26810769	+	Missense_Mutation	SNP	A	A	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:26810769A>T	ENST00000381340.3	-	18	2479	c.2063T>A	c.(2062-2064)aTt>aAt	p.I688N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	688					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTCATCATCAATGTCATCTGA	0.423																																																0													117	109	112					12																	26810769		1908	4126	6034	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2063T>A	chr12.hg19:g.26810769A>T	ENSP00000370744:p.Ile688Asn		O94773	Missense_Mutation	SNP	ENST00000381340.3	hg19	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	8.672	0.902956	0.17760	.	.	ENSG00000123104	ENST00000381340	D	0.91894	-2.93	4.4	4.4	0.53042	.	0.556787	0.20935	N	0.083032	D	0.83815	0.5336	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.78633	-0.2128	10	0.23891	T	0.37	.	12.6771	0.56901	1.0:0.0:0.0:0.0	.	688	Q14571	ITPR2_HUMAN	N	688	ENSP00000370744:I688N	ENSP00000370744:I688N	I	-	2	0	ITPR2	26702036	0.839000	0.29477	0.973000	0.42090	0.226000	0.24999	3.396000	0.52565	1.983000	0.57843	0.533000	0.62120	ATT		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		T	26810769	A	T	26810769	3	4	639	1	0	0	0	0	1	0	0	0	7923	101	4	5	6202	5	ITPR2	12	26810769	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08	13830584	26810769	107041126	65	34831											
SLC2A13	114134	hgsc.bcm.edu	37	12	40265609	40265609	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:40265609T>C	ENST00000280871.4	-	5	1239	c.1189A>G	c.(1189-1191)Agt>Ggt	p.S397G		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	397					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCTGCTAAACTACCAAAGGTA	0.378										HNSCC(50;0.14)																																						0													55	54	54					12																	40265609		2203	4300	6503	SO:0001583	missense	114134			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1189A>G	chr12.hg19:g.40265609T>C	ENSP00000280871:p.Ser397Gly		Q17S07	Missense_Mutation	SNP	ENST00000280871.4	hg19	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609414	0.87258	.	.	ENSG00000151229	ENST00000280871	T	0.58797	0.31	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	T	0.54556	-0.8276	10	0.14252	T	0.57	-16.2802	15.8683	0.79084	0.0:0.0:0.0:1.0	.	397	Q96QE2	MYCT_HUMAN	G	397	ENSP00000280871:S397G	ENSP00000280871:S397G	S	-	1	0	SLC2A13	38551876	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.745000	0.85046	2.214000	0.71695	0.528000	0.53228	AGT		0.378	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			C	40265609	T	C	40265609	3	2	639	1	0	0	0	0	1	0	0	0	14548	1522	53	3	781	3	SLC2A13	12	40265609	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	13454840	40265609	93586286	66	34832											
MARS	4141	hgsc.bcm.edu	37	12	57891971	57891971	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:57891971A>C	ENST00000262027.5	+	8	936	c.802A>C	c.(802-804)Atc>Ctc	p.I268L	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.I34L	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	268					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GAATGTGCTCATCACCAGTGC	0.537																																																0													182	131	148					12																	57891971		2203	4300	6503	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.802A>C	chr12.hg19:g.57891971A>C	ENSP00000262027:p.Ile268Leu		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	hg19	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.760542	0.89932	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.54675	1.05;0.56	4.7	4.7	0.59300	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.070998	0.64402	D	0.000014	T	0.69223	0.3087	M	0.85630	2.765	0.54753	D	0.999982	B;P;P	0.45902	0.338;0.606;0.868	B;P;P	0.55087	0.167;0.46;0.768	T	0.74760	-0.3556	10	0.72032	D	0.01	-16.6576	11.9918	0.53180	1.0:0.0:0.0:0.0	.	34;141;268	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	L	268;34	ENSP00000262027:I268L;ENSP00000314653:I34L	ENSP00000262027:I268L	I	+	1	0	MARS	56178238	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.315000	0.51951	1.884000	0.54569	0.459000	0.35465	ATC		0.537	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		C	57891971	A	C	57891971	3	2	639	1	0	0	0	0	1	0	0	0	9318	217	8	5	832	5	MARS	12	57891971	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08	17626362	57891971	75959924	67	34833											
NAV3	89795	hgsc.bcm.edu	37	12	78513435	78513436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:78513435_78513436insG	ENST00000397909.2	+	15	3632_3633	c.3459_3460insG	c.(3460-3462)ggcfs	p.G1154fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.G1154fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.G1154fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.G1154fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1154	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGGCCGAGGAGGCCACAGATC	0.525										HNSCC(70;0.22)																																						0																																										SO:0001589	frameshift_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3461dupG	chr12.hg19:g.78513437_78513437dupG	ENSP00000381007:p.Gly1154fs		Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	hg19																																																																																					0.525	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		G	78513436	-	G	78513435	7	5	639	1	0	1	1	0	0	0	0	0	10187	291	11	0	3517	0	NAV3	12	78513435	Frame_Shift_Ins	INS	-	TCGA-EV-5903-01A-11D-1589-08	20621464	78513435	55338460	68	34834											
PEBP1	5037	hgsc.bcm.edu	37	12	118577332	118577332	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:118577332G>T	ENST00000261313.2	+	3	674	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	108	Interaction with RAF1.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGATTATGTGGGCTCGGGGCC	0.527																																					NSCLC(44;94 1357 12187 49467)											0													125	112	116					12																	118577332		2203	4300	6503	SO:0001583	missense	5037			X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"Raf kinase inhibitory protein", "hippocampal cholinergic neurostimulating peptide"	604591	"prostatic binding protein"	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.322G>T	chr12.hg19:g.118577332G>T	ENSP00000261313:p.Gly108Cys		B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	hg19	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595001	0.86953	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.57595	0.39	5.43	4.54	0.55810	.	0.047800	0.85682	D	0.000000	D	0.82614	0.5075	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88953	0.3388	10	0.87932	D	0	.	13.8987	0.63790	0.0734:0.0:0.9265:0.0	.	108;108	B4DRT4;P30086	.;PEBP1_HUMAN	C	108	ENSP00000261313:G108C	ENSP00000261313:G108C	G	+	1	0	PEBP1	117061715	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.447000	0.97595	1.280000	0.44463	0.563000	0.77884	GGC		0.527	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567		T	118577332	G	T	118577332	3	4	639	1	0	0	0	0	1	0	0	0	11715	1232	43	4	332	4	PEBP1	12	118577332	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	40063897	118577332	15274563	69	34835											
PSPC1	55269	hgsc.bcm.edu	37	13	20356720	20356720	+	Missense_Mutation	SNP	C	C	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr13:20356720C>T	ENST00000338910.4	-	1	337	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	60					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		AACCCCATCTCCTCGTCCGGG	0.692																																																0													35	37	36					13																	20356720		1929	4130	6059	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.178G>A	chr13.hg19:g.20356720C>T	ENSP00000343966:p.Glu60Lys		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	hg19	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301856	0.40694	.	.	ENSG00000121390	ENST00000338910;ENST00000427943	T;T	0.14640	2.49;2.52	4.8	4.8	0.61643	.	0.347470	0.29396	N	0.012262	T	0.12561	0.0305	L	0.36672	1.1	0.45648	D	0.998577	B	0.21688	0.059	B	0.15870	0.014	T	0.11108	-1.0601	10	0.15499	T	0.54	-5.6938	18.0489	0.89341	0.0:1.0:0.0:0.0	.	60	Q8WXF1	PSPC1_HUMAN	K	60	ENSP00000343966:E60K;ENSP00000393069:E60K	ENSP00000343966:E60K	E	-	1	0	PSPC1	19254720	0.983000	0.35010	0.801000	0.32222	0.460000	0.32559	3.317000	0.51968	2.511000	0.84671	0.313000	0.20887	GAG		0.692	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			T	20356720	C	T	20356720	3	4	639	1	0	0	0	0	1	0	0	0	12721	864	30	2	1429	2	PSPC1	13	20356720	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08		20356720	94813158	70	34836											
SUPT16H	11198	hgsc.bcm.edu	37	14	21821861	21821861	+	Splice_Site	SNP	C	C	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:21821861C>T	ENST00000216297.2	-	24	3259		c.e24+1			NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)						DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GTAAGACTAACCTGACTCTTC	0.378																																																0													178	155	163					14																	21821861		2203	4300	6503	SO:0001630	splice_region_variant	11198			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2920+1G>A	chr14.hg19:g.21821861C>T			Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Splice_Site	SNP	ENST00000216297.2	hg19	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254717	0.80135	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9497	0.89048	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUPT16H	20891701	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	6.568000	0.73987	2.602000	0.87976	0.558000	0.71614	.		0.378	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		Intron	T	21821861	C	T	21821861	5	4	639	1	0	0	0	0	0	0	1	0	15401	521	18	2	234	2	SUPT16H	14	21821861	Splice_Site	SNP	C	TCGA-EV-5903-01A-11D-1589-08		21821861	85527679	71	34837											
AP1G2	8906	hgsc.bcm.edu	37	14	24036472	24036472	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:24036472delC	ENST00000308724.5	-	1	807	c.52delG	c.(52-54)gccfs	p.A18fs	AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Frame_Shift_Del_p.A18fs	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	18					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGAGTCTTGGCCCCGCGAATC	0.637											OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													53	43	46					14																	24036472		2203	4300	6503	SO:0001589	frameshift_variant	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.52delG	chr14.hg19:g.24036472delC	ENSP00000312442:p.Ala18fs	768	D3DS51|O75504	Frame_Shift_Del	DEL	ENST00000308724.5	hg19	CCDS9602.1																																																																																				0.637	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		-	24036472	C	-	24036472	7	5	639	1	0	1	0	1	0	0	0	0	733	739	26	0	2389	0	AP1G2	14	24036472	Frame_Shift_Del	DEL	C	TCGA-EV-5903-01A-11D-1589-08	2214611	24036472	83313068	72	34838											
NIN	51199	hgsc.bcm.edu	37	14	51219341	51219341	+	Silent	SNP	T	T	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:51219341T>A	ENST00000382041.3	-	21	5035	c.4845A>T	c.(4843-4845)acA>acT	p.T1615T	NIN_ENST00000324330.9_Silent_p.T1615T|NIN_ENST00000245441.5_Silent_p.T1615T|NIN_ENST00000530997.2_Silent_p.T1615T|NIN_ENST00000453196.1_Silent_p.T1615T|NIN_ENST00000389868.3_Silent_p.T902T|NIN_ENST00000382043.4_Silent_p.T902T	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1615					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATAGCATTTCTGTTAGACGTT	0.368			T	PDGFRB	MPD																																		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													306	295	299					14																	51219341		2203	4300	6503	SO:0001819	synonymous_variant	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4845A>T	chr14.hg19:g.51219341T>A			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	hg19	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	T	9.123	1.009401	0.19277	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.74	-2.9	0.05648	.	.	.	.	.	.	.	.	.	.	.	0.38083	D	0.936736	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.4293	2.5367	0.04716	0.1233:0.351:0.1277:0.398	.	.	.	.	X	1106	.	.	R	-	1	2	NIN	50289091	0.799000	0.28903	0.876000	0.34364	0.839000	0.47603	-0.187000	0.09656	-0.385000	0.07833	0.533000	0.62120	AGA		0.368	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		A	51219341	T	A	51219341	2	1	639	1	0	0	0	0	0	0	0	1	10419	1567	55	5		5	NIN	14	51219341	Silent	SNP	T	TCGA-EV-5903-01A-11D-1589-08	27182869	51219341	56130199	73	34839											
MNAT1	4331	hgsc.bcm.edu	37	14	61434986	61434986	+	Silent	SNP	T	T	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:61434986T>C	ENST00000261245.4	+	8	950	c.849T>C	c.(847-849)ctT>ctC	p.L283L	RP11-193F5.1_ENST00000553946.1_RNA|MNAT1_ENST00000539616.2_Silent_p.L241L	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	283					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CACAGGACCTTGCTGGAGGCT	0.398								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																								0													133	119	124					14																	61434986		2203	4300	6503	SO:0001819	synonymous_variant	4331			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"RING-type (C3HC4) zinc fingers", "General transcription factor IIH complex subunits"	7181	protein-coding gene	gene with protein product	"CDK-activating kinase assembly factor"	602659	"menage a trois 1 (CAK assembly factor)", "menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.849T>C	chr14.hg19:g.61434986T>C			G3V1U8|Q15817|Q6ICQ7	Silent	SNP	ENST00000261245.4	hg19	CCDS9750.1																																																																																				0.398	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431		C	61434986	T	C	61434986	2	2	639	1	0	0	0	0	0	0	0	1	9676	1799	63	3		3	MNAT1	14	61434986	Silent	SNP	T	TCGA-EV-5903-01A-11D-1589-08	10215645	61434986	45914554	74	34840											
PAPLN	89932	hgsc.bcm.edu	37	14	73733497	73733497	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:73733497T>C	ENST00000554301.1	+	24	3621	c.3458T>C	c.(3457-3459)tTg>tCg	p.L1153S	PAPLN_ENST00000427855.1_Missense_Mutation_p.L1153S|PAPLN_ENST00000555445.1_Missense_Mutation_p.L1137S|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000340738.5_Missense_Mutation_p.L1126S			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1153	Ig-like C2-type 3.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGGCTATTGTGTGTGGTA	0.542																																																0													211	153	173					14																	73733497		2203	4300	6503	SO:0001583	missense	89932			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.3458T>C	chr14.hg19:g.73733497T>C	ENSP00000451803:p.Leu1153Ser		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	hg19		.	.	.	.	.	.	.	.	.	.	T	2.259	-0.369785	0.05069	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000554301;ENST00000555445	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.06	-8.09	0.01090	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28400	0.0702	N	0.03608	-0.345	0.24632	N	0.993617	P;P;B;P	0.39920	0.646;0.695;0.2;0.622	B;B;B;B	0.43331	0.292;0.416;0.077;0.217	T	0.31392	-0.9945	9	0.08837	T	0.75	.	2.1116	0.03704	0.3364:0.3542:0.1653:0.1441	.	1137;1153;352;1126	O95428-5;O95428;O95428-2;O95428-6	.;PPN_HUMAN;.;.	S	1126;1153;1153;1137	ENSP00000345395:L1126S;ENSP00000403403:L1153S;ENSP00000451803:L1153S;ENSP00000451729:L1137S	ENSP00000345395:L1126S	L	+	2	0	PAPLN	72803250	0.000000	0.05858	0.051000	0.19133	0.088000	0.18126	0.124000	0.15728	-1.220000	0.02594	-0.389000	0.06534	TTG		0.542	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		C	73733497	T	C	73733497	3	2	639	1	0	0	0	0	1	0	0	0	11430	1821	63	3	3467	3	PAPLN	14	73733497	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	12298511	73733497	33616043	75	34841											
SOLH	6650	hgsc.bcm.edu	37	16	599030	599030	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr16:599030G>A	ENST00000219611.2	+	5	1850	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	496	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TTCCCTCCCGGGCCCGAGTCT	0.657																																																0													105	94	98					16																	599030		2198	4296	6494	SO:0001583	missense	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1487G>A	chr16.hg19:g.599030G>A	ENSP00000219611:p.Gly496Glu		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	hg19	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	17.87	3.495721	0.64186	.	.	ENSG00000103326	ENST00000219611	T	0.39056	1.1	5.04	5.04	0.67666	Peptidase C2, calpain, catalytic domain (3);	0.097082	0.64402	D	0.000001	T	0.46776	0.1410	N	0.12920	0.275	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.40496	-0.9560	10	0.21014	T	0.42	.	16.9735	0.86306	0.0:0.0:1.0:0.0	.	496	O75808	CAN15_HUMAN	E	496	ENSP00000219611:G496E	ENSP00000219611:G496E	G	+	2	0	SOLH	539031	1.000000	0.71417	0.994000	0.49952	0.379000	0.30106	7.684000	0.84104	2.347000	0.79759	0.556000	0.70494	GGG		0.657	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		A	599030	G	A	599030	3	1	639	1	0	0	0	0	1	0	0	0	14931	1232	43	2	1493	2	SOLH	16	599030	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08		599030	89755723	76	34842											
TMEM186	25880	hgsc.bcm.edu	37	16	8890423	8890423	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr16:8890423T>C	ENST00000333050.6	-	2	61	c.28A>G	c.(28-30)Agg>Ggg	p.R10G	PMM2_ENST00000268261.4_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	10						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						CCCCGAAACCTACGCACAGCT	0.547																																																0													67	70	69					16																	8890423		2197	4300	6497	SO:0001583	missense	25880			BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 51"	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.28A>G	chr16.hg19:g.8890423T>C	ENSP00000331640:p.Arg10Gly		B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	hg19	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985216	0.35036	.	.	ENSG00000184857	ENST00000333050	.	.	.	4.53	2.24	0.28232	.	0.345193	0.20611	N	0.088971	T	0.34193	0.0889	L	0.57536	1.79	0.09310	N	1	P	0.36535	0.557	B	0.33620	0.167	T	0.15983	-1.0418	9	0.36615	T	0.2	-12.3261	8.7598	0.34667	0.0:0.0:0.3002:0.6998	.	10	Q96B77	TM186_HUMAN	G	10	.	ENSP00000331640:R10G	R	-	1	2	TMEM186	8797924	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.134000	0.15932	1.030000	0.39839	0.533000	0.62120	AGG		0.547	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		C	8890423	T	C	8890423	3	2	639	1	0	0	0	0	1	0	0	0	16113	1521	53	3	617	3	TMEM186	16	8890423	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	8291393	8890423	81464330	77	34843											
SPNS1	83985	hgsc.bcm.edu	37	16	28989282	28989282	+	Missense_Mutation	SNP	A	A	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr16:28989282A>G	ENST00000311008.11	+	3	738	c.361A>G	c.(361-363)Agg>Ggg	p.R121G	SPNS1_ENST00000565975.1_Missense_Mutation_p.R166G|RP11-264B17.4_ENST00000567209.1_RNA|SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000334536.8_Missense_Mutation_p.R121G|SPNS1_ENST00000352260.7_Missense_Mutation_p.R99G|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Missense_Mutation_p.R48G	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	121					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCTGGGTGACAGGTACAATCG	0.577											OREG0023711	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													239	183	202					16																	28989282		2197	4300	6497	SO:0001583	missense	83985			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.361A>G	chr16.hg19:g.28989282A>G	ENSP00000309945:p.Arg121Gly	806	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	hg19	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497831	0.64186	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.68	3.54	0.40534	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	M	0.92880	3.355	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;0.998;0.999;1.0	T	0.82168	-0.0591	10	0.87932	D	0	.	8.7405	0.34554	0.6228:0.3772:0.0:0.0	.	48;99;121;121;121	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2;Q9H2V7-5	.;.;SPNS1_HUMAN;.;.	G	121;121;99;48	ENSP00000309945:R121G;ENSP00000335494:R121G;ENSP00000306050:R99G;ENSP00000318228:R48G	ENSP00000309945:R121G	R	+	1	2	SPNS1	28896783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.943000	0.56621	0.774000	0.33427	0.402000	0.26972	AGG		0.577	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		G	28989282	A	G	28989282	3	3	639	1	0	0	0	0	1	0	0	0	15079	179	7	3	371	3	SPNS1	16	28989282	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08	20098859	28989282	61365471	78	34844											
PMFBP1	83449	hgsc.bcm.edu	37	16	72198700	72198700	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr16:72198700T>C	ENST00000237353.10	-	3	389	c.128A>G	c.(127-129)aAt>aGt	p.N43S	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000537465.1_Missense_Mutation_p.N43S	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	43						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCAGAGCTGATTGTCCTGCAA	0.542																																																0													133	111	119					16																	72198700		2198	4300	6498	SO:0001583	missense	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.128A>G	chr16.hg19:g.72198700T>C	ENSP00000237353:p.Asn43Ser		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	hg19	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	T	9.847	1.192729	0.21954	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461;ENST00000539172;ENST00000536211;ENST00000540440	T;T	0.12774	2.65;2.65	5.85	2.17	0.27698	.	0.117279	0.38959	N	0.001506	T	0.05868	0.0153	N	0.19112	0.55	0.80722	D	1	B;B	0.16396	0.017;0.017	B;B	0.12156	0.007;0.007	T	0.30504	-0.9976	10	0.09590	T	0.72	-14.5061	2.3595	0.04304	0.1534:0.0827:0.1601:0.6038	.	43;43	Q8TBY8-2;G3V1Q7	.;.	S	43	ENSP00000443817:N43S;ENSP00000237353:N43S	ENSP00000237353:N43S	N	-	2	0	PMFBP1	70756201	0.858000	0.29795	0.998000	0.56505	0.204000	0.24138	0.499000	0.22546	0.464000	0.27142	-0.290000	0.09829	AAT		0.542	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		C	72198700	T	C	72198700	3	2	639	1	0	0	0	0	1	0	0	0	12136	1493	52	3	3031	3	PMFBP1	16	72198700	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	43209418	72198700	18156053	79	34845											
C16orf7	9605	hgsc.bcm.edu	37	16	89776218	89776219	+	Frame_Shift_Del	DEL	GA	GA	-	rs565573769		TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr16:89776218_89776219delGA	ENST00000389386.3	-	11	1478_1479	c.1354_1355delTC	c.(1354-1356)tccfs	p.S452fs	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000561976.1_Frame_Shift_Del_p.S382fs|VPS9D1_ENST00000565452.1_5'Flank	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	452					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										CCACAGCGGGGAGAAAAAGGGT	0.619																																																0																																										SO:0001589	frameshift_variant	9605			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1354_1355delTC	chr16.hg19:g.89776220_89776221delGA	ENSP00000374037:p.Ser452fs			Frame_Shift_Del	DEL	ENST00000389386.3	hg19	CCDS42220.1																																																																																				0.619	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		-	89776219	GA	-	89776218	7	5	639	1	0	1	0	1	0	0	0	0	1830	1174	41	0	560	0	C16orf7	16	89776218	Frame_Shift_Del	DEL	GA	TCGA-EV-5903-01A-11D-1589-08	17577518	89776218	578535	80	34846											
AIPL1	23746	hgsc.bcm.edu	37	17	6328845	6328845	+	Missense_Mutation	SNP	C	C	T	rs201875142		TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr17:6328845C>T	ENST00000381129.3	-	6	1170	c.1090G>A	c.(1090-1092)Gca>Aca	p.A364T	AIPL1_ENST00000574506.1_Missense_Mutation_p.A352T|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000250087.5_Missense_Mutation_p.A301T|AIPL1_ENST00000576776.1_Missense_Mutation_p.A340T|AIPL1_ENST00000576307.1_Missense_Mutation_p.A304T|AIPL1_ENST00000570466.1_Missense_Mutation_p.A342T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	364					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		gggggccctgcggacagctct	0.701																																																0													47	47	47					17																	6328845		2202	4297	6499	SO:0001583	missense	23746			AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.1090G>A	chr17.hg19:g.6328845C>T	ENSP00000370521:p.Ala364Thr		D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	hg19	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.800010	0.00611	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087	D;D	0.88354	-2.37;-2.28	2.43	-4.86	0.03132	.	14.175600	0.00357	N	0.000030	T	0.68357	0.2992	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.62282	-0.6887	10	0.15066	T	0.55	.	0.3578	0.00359	0.2708:0.2404:0.1332:0.3556	.	340;342;301;304;364	Q659W3;Q659W4;Q9NZN9-3;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	T	364;304;301	ENSP00000370521:A364T;ENSP00000250087:A301T	ENSP00000250087:A301T	A	-	1	0	AIPL1	6269569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.245000	0.01192	-4.315000	0.00057	-3.419000	0.00038	GCA		0.701	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		T	6328845	C	T	6328845	3	4	639	1	0	0	0	0	1	0	0	0	436	768	27	1	68	1	AIPL1	17	6328845	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08		6328845	74866365	81	34847			1	58		2	2	24	N	G_C	7.132283e-05
AIPL1	23746	hgsc.bcm.edu	37	17	6328868	6328868	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr17:6328868G>A	ENST00000381129.3	-	6	1147	c.1067C>T	c.(1066-1068)aCa>aTa	p.T356I	AIPL1_ENST00000574506.1_Missense_Mutation_p.T344I|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000250087.5_Missense_Mutation_p.T293I|AIPL1_ENST00000576776.1_Missense_Mutation_p.T332I|AIPL1_ENST00000576307.1_Missense_Mutation_p.T296I|AIPL1_ENST00000570466.1_Missense_Mutation_p.T334I	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	356					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		agatggtgctgtgggtggctc	0.692																																																0													72	65	68					17																	6328868		2203	4298	6501	SO:0001583	missense	23746			AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.1067C>T	chr17.hg19:g.6328868G>A	ENSP00000370521:p.Thr356Ile		D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	hg19	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032866	0.19590	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087	D;D	0.88818	-2.43;-2.33	2.56	2.56	0.30785	.	13.968300	0.01841	U	0.035287	T	0.81744	0.4887	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B;B	0.26775	0.099;0.099;0.159;0.159;0.099	B;B;B;B;B	0.15870	0.005;0.005;0.014;0.011;0.005	T	0.69624	-0.5095	10	0.37606	T	0.19	.	8.5789	0.33617	0.0:0.0:1.0:0.0	.	332;334;293;296;356	Q659W3;Q659W4;Q9NZN9-3;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	I	356;296;293	ENSP00000370521:T356I;ENSP00000250087:T293I	ENSP00000250087:T293I	T	-	2	0	AIPL1	6269592	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.481000	0.02323	1.405000	0.46838	0.407000	0.27541	ACA		0.692	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		A	6328868	G	A	6328868	3	1	639	1	0	0	0	0	1	0	0	0	436	1377	48	2	91	2	AIPL1	17	6328868	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	23	6328868	74866342	82	34848			1	58		2	2	24	N	G_C	7.132283e-05
SKAP1	8631	hgsc.bcm.edu	37	17	46266785	46266785	+	Splice_Site	SNP	C	C	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr17:46266785C>T	ENST00000336915.6	-	5	427	c.358G>A	c.(358-360)Gat>Aat	p.D120N	SKAP1_ENST00000584924.1_Splice_Site_p.D120N|RP11-456D7.1_ENST00000582246.1_RNA	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	120	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TGACCAATACCTTTGCTTTTC	0.433																																																0													183	146	158					17																	46266785		2203	4300	6503	SO:0001630	splice_region_variant	8631			Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.358+1G>A	chr17.hg19:g.46266785C>T			D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	hg19	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998944	0.54147	.	.	ENSG00000141293	ENST00000336915	T	0.11821	2.74	5.61	5.61	0.85477	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	L	0.60904	1.88	0.58432	D	0.999998	P;D	0.76494	0.536;0.999	P;D	0.79784	0.614;0.993	T	0.00783	-1.1568	9	.	.	.	-29.0873	19.225	0.93815	0.0:1.0:0.0:0.0	.	120;120	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	N	120	ENSP00000338171:D120N	.	D	-	1	0	SKAP1	43621784	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.108000	0.71522	2.640000	0.89533	0.563000	0.77884	GAT		0.433	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726	Missense_Mutation	T	46266785	C	T	46266785	5	4	639	1	0	0	0	0	0	0	1	0	14361	695	24	2	753	2	SKAP1	17	46266785	Splice_Site	SNP	C	TCGA-EV-5903-01A-11D-1589-08	39937917	46266785	34928425	83	34849											
TMX3	54495	hgsc.bcm.edu	37	18	66378637	66378637	+	Missense_Mutation	SNP	A	A	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr18:66378637A>C	ENST00000299608.2	-	3	421	c.105T>G	c.(103-105)ttT>ttG	p.F35L	TMX3_ENST00000443099.2_Missense_Mutation_p.F35L|TMX3_ENST00000562706.1_Missense_Mutation_p.F35L	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	35	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GATTTTCTTTAAACCTAAAAA	0.279																																																0													84	90	88					18																	66378637		2202	4289	6491	SO:0001583	missense	54495			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.105T>G	chr18.hg19:g.66378637A>C	ENSP00000299608:p.Phe35Leu		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	hg19	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615363	0.87359	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T;T	0.06608	3.28;3.28;3.28	5.36	5.36	0.76844	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.26955	0.0660	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.998;0.986;0.999	T	0.01596	-1.1316	10	0.52906	T	0.07	.	13.3017	0.60328	1.0:0.0:0.0:0.0	.	35;35;35	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	L	35	ENSP00000299608:F35L;ENSP00000444954:F35L;ENSP00000402605:F35L	ENSP00000299608:F35L	F	-	3	2	TMX3	64529617	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.620000	0.61226	2.042000	0.60477	0.528000	0.53228	TTT		0.279	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		C	66378637	A	C	66378637	3	2	639	1	0	0	0	0	1	0	0	0	16273	359	13	5	1315	5	TMX3	18	66378637	Missense_Mutation	SNP	A	TCGA-EV-5903-01A-11D-1589-08		66378637	11698611	84	34850											
ATP8B3	148229	hgsc.bcm.edu	37	19	1785678	1785678	+	Missense_Mutation	SNP	C	C	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:1785678C>A	ENST00000310127.6	-	26	3421	c.3183G>T	c.(3181-3183)aaG>aaT	p.K1061N	ATP8B3_ENST00000539485.1_Missense_Mutation_p.K1071N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.K1024N	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1061					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGCTCCGGCTTCTCCAGGC	0.602																																																0													26	29	28					19																	1785678		2120	4237	6357	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3183G>T	chr19.hg19:g.1785678C>A	ENSP00000311336:p.Lys1061Asn		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	hg19	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	8.917	0.960236	0.18507	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.70516	-0.49;-0.49;-0.49	4.48	3.39	0.38822	.	0.558416	0.19418	N	0.114773	T	0.40815	0.1132	N	0.02697	-0.525	0.23855	N	0.996656	B;B	0.30664	0.289;0.086	B;B	0.23275	0.045;0.045	T	0.33420	-0.9869	10	0.66056	D	0.02	.	6.6084	0.22737	0.149:0.5306:0.3204:0.0	.	1061;1024	O60423;Q7Z485	AT8B3_HUMAN;.	N	1061;1071;1024	ENSP00000311336:K1061N;ENSP00000443574:K1071N;ENSP00000437115:K1024N	ENSP00000311336:K1061N	K	-	3	2	ATP8B3	1736678	0.965000	0.33210	0.457000	0.27056	0.051000	0.14879	1.815000	0.38981	2.027000	0.59764	0.655000	0.94253	AAG		0.602	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		A	1785678	C	A	1785678	3	1	639	1	0	0	0	0	1	0	0	0	1196	796	28	4	735	4	ATP8B3	19	1785678	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08		1785678	57343305	85	34851											
SFRS14	10147	hgsc.bcm.edu	37	19	19115397	19115397	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:19115397G>T	ENST00000601879.1	-	7	2806	c.2509C>A	c.(2509-2511)Cta>Ata	p.L837I	SUGP2_ENST00000456085.2_Missense_Mutation_p.L606I|SUGP2_ENST00000337018.6_Missense_Mutation_p.L837I|SUGP2_ENST00000600377.1_Missense_Mutation_p.L851I|SUGP2_ENST00000452918.2_Missense_Mutation_p.L837I			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	837					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GATGGACATAGTTCAAACACT	0.463																																																0													74	73	73					19																	19115397		2203	4300	6503	SO:0001583	missense	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2509C>A	chr19.hg19:g.19115397G>T	ENSP00000472286:p.Leu837Ile		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	hg19	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590575	0.66219	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.26	5.26	0.73747	SWAP/Surp (1);	0.000000	0.42294	D	0.000725	T	0.46151	0.1378	N	0.16307	0.4	0.39998	D	0.975121	D;D;D	0.76494	0.999;0.976;0.999	D;D;D	0.87578	0.998;0.914;0.997	T	0.45366	-0.9266	10	0.41790	T	0.15	-13.6122	11.5508	0.50719	0.086:0.0:0.914:0.0	.	606;837;837	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	I	837;837;837;606	ENSP00000337926:L837I;ENSP00000332373:L837I;ENSP00000389380:L837I;ENSP00000409603:L606I	ENSP00000332373:L837I	L	-	1	2	SUGP2	18976397	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	1.688000	0.37690	2.459000	0.83118	0.563000	0.77884	CTA		0.463	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		T	19115397	G	T	19115397	3	4	639	1	0	0	0	0	1	0	0	0	14176	1020	36	4	755	4	SFRS14	19	19115397	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	17329719	19115397	40013586	86	34852											
RINL	126432	hgsc.bcm.edu	37	19	39359912	39359925	+	Frame_Shift_Del	DEL	TGCAGCGTCCGCCT	TGCAGCGTCCGCCT	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	TGCAGCGTCCGCCT	TGCAGCGTCCGCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:39359912_39359925delTGCAGCGTCCGCCT	ENST00000591812.1	-	11	1686_1699	c.1600_1613delAGGCGGACGCTGCA	c.(1600-1614)aggcggacgctgcacfs	p.RRTLH534fs	CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Frame_Shift_Del_p.RRTLH420fs|RINL_ENST00000340740.3_Frame_Shift_Del_p.RRTLH420fs|RINL_ENST00000602238.1_5'Flank			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	534					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						ATCCTTTCTGTGCAGCGTCCGCCTGCGGTGCCAC	0.673																																																0																																										SO:0001589	frameshift_variant	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1600_1613delAGGCGGACGCTGCA	chr19.hg19:g.39359912_39359925delTGCAGCGTCCGCCT	ENSP00000467107:p.Arg534fs		B4DPG5	Frame_Shift_Del	DEL	ENST00000591812.1	hg19	CCDS59386.1																																																																																				0.673	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		-	39359925	TGCAGCGTCCGCCT	-	39359912	7	5	639	1	0	1	0	1	0	0	0	0	13381	1696	59	0	95	0	RINL	19	39359912	Frame_Shift_Del	DEL	TGCAGCGTCCGCCT	TCGA-EV-5903-01A-11D-1589-08	20244515	39359912	19769071	87	34853											
ALDH16A1	126133	hgsc.bcm.edu	37	19	49969107	49969107	+	Missense_Mutation	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:49969107G>A	ENST00000293350.4	+	13	1844	c.1681G>A	c.(1681-1683)Ggt>Agt	p.G561S	ALDH16A1_ENST00000540132.1_Missense_Mutation_p.G398S|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.G510S|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.G396S	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	561						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGTGGCTGAGGGTGGAGCCAA	0.642																																																0													39	40	40					19																	49969107		2203	4300	6503	SO:0001583	missense	126133			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1681G>A	chr19.hg19:g.49969107G>A	ENSP00000293350:p.Gly561Ser		B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	hg19	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007403	0.75046	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.77	4.77	0.60923	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.220696	0.37623	N	0.002003	D	0.83751	0.5322	M	0.64567	1.98	0.44254	D	0.997108	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84182	0.0440	10	0.46703	T	0.11	-20.3157	15.3078	0.74008	0.0:0.0:1.0:0.0	.	398;510;561	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	S	561;510;398;396	ENSP00000293350:G561S;ENSP00000410142:G510S;ENSP00000445088:G398S;ENSP00000398675:G396S	ENSP00000293350:G561S	G	+	1	0	ALDH16A1	54660919	0.985000	0.35326	0.999000	0.59377	0.666000	0.39218	1.078000	0.30754	2.206000	0.71126	0.561000	0.74099	GGT		0.642	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		A	49969107	G	A	49969107	3	1	639	1	0	0	0	0	1	0	0	0	488	1232	43	2	1731	2	ALDH16A1	19	49969107	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	10609195	49969107	9159876	88	34854											
ZNF836	162962	hgsc.bcm.edu	37	19	52659397	52659397	+	Silent	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:52659397G>A	ENST00000322146.8	-	5	2060	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.L513L	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TATGTCGAGTGAGTAATGAGC	0.388																																																0													75	84	81					19																	52659397		2186	4294	6480	SO:0001819	synonymous_variant	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1539C>T	chr19.hg19:g.52659397G>A				Silent	SNP	ENST00000322146.8	hg19	CCDS46162.1																																																																																				0.388	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		A	52659397	G	A	52659397	2	1	639	1	0	0	0	0	0	0	0	1	18192	1277	45	2		2	ZNF836	19	52659397	Silent	SNP	G	TCGA-EV-5903-01A-11D-1589-08	2690290	52659397	6469586	89	34855											
NLRP11	204801	hgsc.bcm.edu	37	19	56329449	56329449	+	Missense_Mutation	SNP	G	G	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:56329449G>T	ENST00000589093.1	-	2	185	c.92C>A	c.(91-93)gCa>gAa	p.A31E	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.A31E|NLRP11_ENST00000360133.3_Missense_Mutation_p.A31E|NLRP11_ENST00000443188.1_Missense_Mutation_p.A31E			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	31	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATCTTGCGTGCCAGATACTT	0.413																																																0													135	126	129					19																	56329449		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.92C>A	chr19.hg19:g.56329449G>T	ENSP00000466285:p.Ala31Glu		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	hg19	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	0.719	-0.784370	0.02907	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.48522	0.81;0.81	2.56	-5.13	0.02884	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.23846	0.0577	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.26094	0.066	T	0.26360	-1.0105	9	0.18710	T	0.47	.	0.3757	0.00387	0.2979:0.2202:0.2836:0.1983	.	31	P59045	NAL11_HUMAN	E	31	ENSP00000409898:A31E;ENSP00000353251:A31E	ENSP00000353251:A31E	A	-	2	0	NLRP11	61021261	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.568000	0.02144	-1.980000	0.00990	-2.070000	0.00385	GCA		0.413	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		T	56329449	G	T	56329449	3	4	639	1	0	0	0	0	1	0	0	0	10475	1319	46	4	3045	4	NLRP11	19	56329449	Missense_Mutation	SNP	G	TCGA-EV-5903-01A-11D-1589-08	3670052	56329449	2799534	90	34856											
BPIL1	80341	hgsc.bcm.edu	37	20	31601760	31601760	+	Missense_Mutation	SNP	C	C	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr20:31601760C>G	ENST00000170150.3	+	5	648	c.453C>G	c.(451-453)aaC>aaG	p.N151K		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	151						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										ATGGCAGTAACAGGTGGGTGC	0.582																																																0													47	41	43					20																	31601760		2203	4300	6503	SO:0001583	missense	80341			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.453C>G	chr20.hg19:g.31601760C>G	ENSP00000170150:p.Asn151Lys		Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	hg19	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	0.777	-0.763664	0.02996	.	.	ENSG00000078898	ENST00000170150	T	0.05025	3.51	3.37	1.32	0.21799	.	1.051320	0.07484	N	0.904509	T	0.04363	0.0120	L	0.27053	0.805	0.21802	N	0.999535	B	0.09022	0.002	B	0.08055	0.003	T	0.43829	-0.9367	10	0.05833	T	0.94	0.1991	7.9791	0.30172	0.4451:0.5549:0.0:0.0	.	151	Q8N4F0	BPIB2_HUMAN	K	151	ENSP00000170150:N151K	ENSP00000170150:N151K	N	+	3	2	BPIFB2	31065421	0.257000	0.24022	0.587000	0.28692	0.145000	0.21501	0.314000	0.19432	0.396000	0.25283	0.491000	0.48974	AAC		0.582	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		G	31601760	C	G	31601760	3	3	639	1	0	0	0	0	1	0	0	0	1493	477	17	4	467	4	BPIL1	20	31601760	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08		31601760	31423760	91	34857											
C20orf114	92747	hgsc.bcm.edu	37	20	31876601	31876601	+	Missense_Mutation	SNP	C	C	A	rs201956427		TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr20:31876601C>A	ENST00000253354.1	+	3	331	c.170C>A	c.(169-171)cCg>cAg	p.P57Q		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	57					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CAGCAGCTGCCGCTGCTCAGT	0.627																																																0													53	47	49					20																	31876601		2202	4300	6502	SO:0001583	missense	92747			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.170C>A	chr20.hg19:g.31876601C>A	ENSP00000253354:p.Pro57Gln		A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	hg19	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489741	0.64074	.	.	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.04758	3.56;3.56	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.23014	0.0556	M	0.80847	2.515	0.40669	D	0.98219	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00062	-1.2156	10	0.54805	T	0.06	-37.7205	15.5106	0.75779	0.0:1.0:0.0:0.0	.	57;57	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	Q	57	ENSP00000390471:P57Q;ENSP00000253354:P57Q	ENSP00000253354:P57Q	P	+	2	0	BPIFB1	31340262	0.985000	0.35326	0.976000	0.42696	0.432000	0.31715	3.446000	0.52928	2.941000	0.99782	0.655000	0.94253	CCG		0.627	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		A	31876601	C	A	31876601	3	1	639	1	0	0	0	0	1	0	0	0	2084	652	23	4	176	4	C20orf114	20	31876601	Missense_Mutation	SNP	C	TCGA-EV-5903-01A-11D-1589-08	274841	31876601	31148919	92	34858											
ZNF341	84905	hgsc.bcm.edu	37	20	32376706	32376706	+	Silent	SNP	G	G	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr20:32376706G>T	ENST00000375200.1	+	13	2255	c.1890G>T	c.(1888-1890)gcG>gcT	p.A630A	RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.A623A|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A623A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCGAGTCTGCGTTCAACCGCA	0.547																																																1	Substitution - coding silent(1)	endometrium(1)											122	99	107					20																	32376706		2203	4300	6503	SO:0001819	synonymous_variant	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1890G>T	chr20.hg19:g.32376706G>T			A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	hg19																																																																																					0.547	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				T	32376706	G	T	32376706	2	4	639	1	0	0	0	0	0	0	0	1	17862	1132	40	4		4	ZNF341	20	32376706	Silent	SNP	G	TCGA-EV-5903-01A-11D-1589-08	500105	32376706	30648814	93	34859											
C21orf45	54069	hgsc.bcm.edu	37	21	33651272	33651272	+	Silent	SNP	C	C	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr21:33651272C>T	ENST00000290130.3	-	1	108	c.54G>A	c.(52-54)gaG>gaA	p.E18E	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	18					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TGTCGCCGCACTCACAGCCGC	0.607																																																0													36	39	38					21																	33651272		2202	4296	6498	SO:0001819	synonymous_variant	54069			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.54G>A	chr21.hg19:g.33651272C>T			B2R562|Q542Z0	Silent	SNP	ENST00000290130.3	hg19	CCDS13611.1																																																																																				0.607	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		T	33651272	C	T	33651272	2	4	639	1	0	0	0	0	0	0	0	1	2128	564	20	2		2	C21orf45	21	33651272	Silent	SNP	C	TCGA-EV-5903-01A-11D-1589-08		33651272	14478623	94	34860											
SON	6651	hgsc.bcm.edu	37	21	34922663	34922663	+	Missense_Mutation	SNP	T	T	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr21:34922663T>C	ENST00000356577.4	+	3	1601	c.1126T>C	c.(1126-1128)Tcg>Ccg	p.S376P	SON_ENST00000300278.4_Missense_Mutation_p.S376P|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S376P|SON_ENST00000290239.6_Missense_Mutation_p.S376P	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	376					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCAGGAGTCGTCGGTGGCCTC	0.627																																																0													78	85	82					21																	34922663		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1126T>C	chr21.hg19:g.34922663T>C	ENSP00000348984:p.Ser376Pro		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	hg19	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913625	0.33815	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.14022	2.71;2.72;2.72;2.54	5.43	1.29	0.21616	.	0.277107	0.26272	N	0.025322	T	0.05593	0.0147	N	0.14661	0.345	0.21802	N	0.999532	B;B;B	0.22080	0.038;0.064;0.015	B;B;B	0.22880	0.019;0.042;0.023	T	0.36335	-0.9752	10	0.15499	T	0.54	.	2.7433	0.05259	0.1873:0.2368:0.0:0.5759	.	376;376;376	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	P	376	ENSP00000348984:S376P;ENSP00000290239:S376P;ENSP00000300278:S376P;ENSP00000371095:S376P	ENSP00000290239:S376P	S	+	1	0	SON	33844533	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.194000	0.17135	0.413000	0.25759	0.459000	0.35465	TCG		0.627	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		C	34922663	T	C	34922663	3	2	639	1	0	0	0	0	1	0	0	0	14932	1667	58	3	1136	3	SON	21	34922663	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	1271391	34922663	13207232	95	34861											
HDAC6	10013	hgsc.bcm.edu	37	X	48682180	48682180	+	Silent	SNP	G	G	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chrX:48682180G>A	ENST00000334136.5	+	26	3466	c.3288G>A	c.(3286-3288)agG>agA	p.R1096R	HDAC6_ENST00000444343.2_Silent_p.R1110R|HDAC6_ENST00000376619.2_Silent_p.R1096R			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1096					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGGGATCTAGGGGCCTCACTG	0.547																																					Pancreas(112;205 1675 2305 8976 15959)											0													83	66	72					X																	48682180		2203	4300	6503	SO:0001819	synonymous_variant	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3288G>A	chrX.hg19:g.48682180G>A			O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	hg19	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	3.939	-0.014623	0.07681	.	.	ENSG00000094631	ENST00000430858	.	.	.	5.56	0.474	0.16768	.	.	.	.	.	T	0.23410	0.0566	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24333	-1.0163	4	.	.	.	0.2517	3.6925	0.08351	0.2664:0.0:0.4392:0.2944	.	.	.	.	E	57	.	.	G	+	2	0	HDAC6	48567124	0.016000	0.18221	0.000000	0.03702	0.048000	0.14542	0.329000	0.19698	-0.044000	0.13491	0.600000	0.82982	GGG		0.547	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		A	48682180	G	A	48682180	2	1	639	1	0	0	0	0	0	0	0	1	7013	1223	43	2		2	HDAC6	23	48682180	Silent	SNP	G	TCGA-EV-5903-01A-11D-1589-08		48682180	106588380	96	34862											
RGAG1	57529	hgsc.bcm.edu	37	X	109695935	109695935	+	Missense_Mutation	SNP	T	T	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chrX:109695935T>G	ENST00000465301.2	+	3	2336	c.2090T>G	c.(2089-2091)aTg>aGg	p.M697R	RGAG1_ENST00000540313.1_Missense_Mutation_p.M697R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	697								p.M697T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATGCCACTAATGAGAGCTCAA	0.517																																																1	Substitution - Missense(1)	endometrium(1)											118	99	105					X																	109695935		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2090T>G	chrX.hg19:g.109695935T>G	ENSP00000419786:p.Met697Arg		Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	hg19	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	T	1.022	-0.684599	0.03353	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.48201	0.82;0.82	3.63	2.48	0.30137	.	0.141438	0.32935	N	0.005468	T	0.30792	0.0776	L	0.39898	1.24	0.09310	N	1	P	0.35982	0.531	B	0.35413	0.202	T	0.10989	-1.0606	9	.	.	.	-0.0102	2.2783	0.04108	0.2497:0.1407:0.0:0.6096	.	697	Q8NET4	RGAG1_HUMAN	R	697	ENSP00000419786:M697R;ENSP00000441452:M697R	.	M	+	2	0	RGAG1	109582591	0.001000	0.12720	0.002000	0.10522	0.031000	0.12232	-0.744000	0.04839	0.596000	0.29794	0.486000	0.48141	ATG		0.517	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		G	109695935	T	G	109695935	3	3	639	1	0	0	0	0	1	0	0	0	13280	1464	51	5	2092	5	RGAG1	23	109695935	Missense_Mutation	SNP	T	TCGA-EV-5903-01A-11D-1589-08	61013755	109695935	45574625	97	34863											
CGN	57530	hgsc.bcm.edu	37	1	151502428	151502428	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr1:151502428G>A	ENST00000271636.7	+	12	2283	c.2150G>A	c.(2149-2151)cGg>cAg	p.R717Q	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	711	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGGGCAGCGGCGGGCCGCA	0.652																																																0													30	37	34					1																	151502428		2203	4300	6503	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2150G>A	chr1.hg19:g.151502428G>A	ENSP00000271636:p.Arg717Gln		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	hg19	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267974	0.40095	.	.	ENSG00000143375	ENST00000271636	T	0.64438	-0.1	5.27	5.27	0.74061	.	0.472495	0.21879	N	0.067773	T	0.62332	0.2419	L	0.50919	1.6	0.29222	N	0.87387	D	0.76494	0.999	P	0.60068	0.868	T	0.58685	-0.7593	10	0.39692	T	0.17	-10.0013	16.3784	0.83418	0.0:0.0:1.0:0.0	.	711	Q9P2M7	CING_HUMAN	Q	717	ENSP00000271636:R717Q	ENSP00000271636:R717Q	R	+	2	0	CGN	149769052	0.901000	0.30685	0.933000	0.37362	0.335000	0.28730	2.924000	0.48876	2.439000	0.82584	0.563000	0.77884	CGG		0.652	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		A	151502428	G	A	151502428	3	1	640	1	0	0	0	0	1	0	0	0	3305	1116	39	1	2192	1	CGN	1	151502428	Missense_Mutation	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10		151502428	97748193	1	34864											
SHE	126669	hgsc.bcm.edu	37	1	154471704	154471704	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr1:154471704A>G	ENST00000304760.2	-	2	688	c.602T>C	c.(601-603)tTa>tCa	p.L201S	TDRD10_ENST00000368482.4_5'Flank	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	201										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATAGTCTTCTAAAATGATGAC	0.448																																																0													129	108	115					1																	154471704		2203	4300	6503	SO:0001583	missense	126669			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.602T>C	chr1.hg19:g.154471704A>G	ENSP00000307369:p.Leu201Ser		Q8TEQ5	Missense_Mutation	SNP	ENST00000304760.2	hg19	CCDS30877.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353420	0.82243	.	.	ENSG00000169291	ENST00000304760	T	0.31510	1.49	5.02	5.02	0.67125	.	0.102997	0.42821	D	0.000657	T	0.41050	0.1142	M	0.72894	2.215	0.42961	D	0.9944	D	0.89917	1.0	D	0.69307	0.963	T	0.22836	-1.0205	10	0.27082	T	0.32	-29.5539	13.7207	0.62725	1.0:0.0:0.0:0.0	.	201	Q5VZ18	SHE_HUMAN	S	201	ENSP00000307369:L201S	ENSP00000307369:L201S	L	-	2	0	SHE	152738328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.237000	0.89807	2.099000	0.63709	0.533000	0.62120	TTA		0.448	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846		G	154471704	A	G	154471704	3	3	640	1	0	0	0	0	1	0	0	0	14282	372	13	3	905	3	SHE	1	154471704	Missense_Mutation	SNP	A	TCGA-F9-A4JJ-01A-11D-A25F-10	2969276	154471704	94778917	2	34865											
ATP1B1	481	hgsc.bcm.edu	37	1	169094224	169094232	+	In_Frame_Del	DEL	AAAAGTACA	AAAAGTACA	-			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	AAAAGTACA	AAAAGTACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr1:169094224_169094232delAAAAGTACA	ENST00000367816.1	+	4	858_866	c.329_337delAAAAGTACA	c.(328-339)gaaaagtacaaa>gaa	p.KYK111del	ATP1B1_ENST00000367813.3_In_Frame_Del_p.KYK103del|ATP1B1_ENST00000367815.4_In_Frame_Del_p.KYK111del|ATP1B1_ENST00000499679.3_In_Frame_Del_p.KYK55del			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	111					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AGGTTCCTGGAAAAGTACAAAGATTCAGC	0.392																																																0																																										SO:0001651	inframe_deletion	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.329_337delAAAAGTACA	chr1.hg19:g.169094224_169094232delAAAAGTACA	ENSP00000356790:p.Lys111_Lys113del		Q5TGZ3	In_Frame_Del	DEL	ENST00000367816.1	hg19	CCDS1276.1																																																																																				0.392	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			-	169094232	AAAAGTACA	-	169094224	7	5	640	1	0	1	0	1	0	0	0	0	1132	246	9	0	339	0	ATP1B1	1	169094224	In_Frame_Del	DEL	AAAAGTACA	TCGA-F9-A4JJ-01A-11D-A25F-10	14622520	169094224	80156397	3	34866											
IGFN1	91156	hgsc.bcm.edu	37	1	201166405	201166405	+	Silent	SNP	C	C	T	rs370452044		TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr1:201166405C>T	ENST00000335211.4	+	5	457	c.327C>T	c.(325-327)taC>taT	p.Y109Y	IGFN1_ENST00000451870.2_Silent_p.Y109Y|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	109	Ig-like 1.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TAAATGCGTACGGAGAGGCCG	0.557																																																0								C		1,1383		0,1,691	172	157	162		327	-2.2	0.1	1		162	0,3182		0,0,1591	no	coding-synonymous	IGFN1	NM_001164586.1		0,1,2282	TT,TC,CC		0.0,0.0723,0.0219		109/3709	201166405	1,4565	692	1591	2283	SO:0001819	synonymous_variant	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.327C>T	chr1.hg19:g.201166405C>T			F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	hg19	CCDS53455.1																																																																																				0.557	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		T	201166405	C	T	201166405	2	4	640	1	0	0	0	0	0	0	0	1	7592	547	19	1		1	IGFN1	1	201166405	Silent	SNP	C	TCGA-F9-A4JJ-01A-11D-A25F-10	32072181	201166405	48084216	4	34867											
CR1	1378	hgsc.bcm.edu	37	1	207669654	207669654	+	Silent	SNP	G	G	C			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr1:207669654G>C	ENST00000367049.4	+	1	42	c.42G>C	c.(40-42)ccG>ccC	p.P14P	CR1_ENST00000400960.2_Silent_p.P14P|CR1_ENST00000367052.1_Silent_p.P14P|CR1_ENST00000367053.1_Silent_p.P14P|CR1_ENST00000367051.1_Silent_p.P14P|CR1_ENST00000367050.4_3'UTR	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	14					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGTCGGGCCGCCGGCGCCCG	0.632																																																0													21	27	25					1																	207669654		1819	4077	5896	SO:0001819	synonymous_variant	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.42G>C	chr1.hg19:g.207669654G>C			Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	hg19	CCDS44308.1																																																																																				0.632	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		C	207669654	G	C	207669654	2	2	640	1	0	0	0	0	0	0	0	1	3842	1074	38	4		4	CR1	1	207669654	Silent	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10	6503249	207669654	41580967	5	34868											
FMN2	56776	hgsc.bcm.edu	37	1	240255571	240255571	+	Silent	SNP	C	C	G	rs71929261|rs140531536	byFrequency	TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr1:240255571C>G	ENST00000319653.9	+	1	392	c.162C>G	c.(160-162)ggC>ggG	p.G54G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	54					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGAgggggcggcggcggcg	0.662																																																1	Deletion - In frame(1)	prostate(1)											2	3	3					1																	240255571		1816	3578	5394	SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.162C>G	chr1.hg19:g.240255571C>G			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	hg19	CCDS31069.2																																																																																				0.662	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		G	240255571	C	G	240255571	2	3	640	1	0	0	0	0	0	0	0	1	5952	755	27	4		4	FMN2	1	240255571	Silent	SNP	C	TCGA-F9-A4JJ-01A-11D-A25F-10	32585917	240255571	8995050	6	34869											
FH	2271	hgsc.bcm.edu	37	1	241661272	241661272	+	Splice_Site	SNP	T	T	G			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr1:241661272T>G	ENST00000366560.3	-	10	1429		c.e10-2			NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase						cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TGTCATACCCTGAAGAAAAAA	0.378			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"E, M"	0													101	99	100					1																	241661272		2203	4300	6503	SO:0001630	splice_region_variant	2271	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1391-2A>C	chr1.hg19:g.241661272T>G			B1ANK7	Splice_Site	SNP	ENST00000366560.3	hg19	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987598	0.74589	.	.	ENSG00000091483	ENST00000366560	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0202	0.64550	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FH	239727895	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.531000	0.73820	2.188000	0.69820	0.528000	0.53228	.		0.378	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143	Intron	G	241661272	T	G	241661272	5	3	640	1	0	0	0	0	0	0	1	0	5877	1594	55	5	147	5	FH	1	241661272	Splice_Site	SNP	T	TCGA-F9-A4JJ-01A-11D-A25F-10	1405701	241661272	7589349	7	34870											
LRRTM4	80059	hgsc.bcm.edu	37	2	77746638	77746638	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr2:77746638G>T	ENST00000409093.1	-	3	693	c.357C>A	c.(355-357)aaC>aaA	p.N119K	LRRTM4_ENST00000409088.3_Missense_Mutation_p.N119K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.N119K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.N120K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.N120K			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	119					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGTAATTTTGTTGGAGCTTA	0.373																																																0													158	140	145					2																	77746638		1842	4084	5926	SO:0001583	missense	80059			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.357C>A	chr2.hg19:g.77746638G>T	ENSP00000386357:p.Asn119Lys		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	hg19	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526251	0.44969	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.96	4.91	0.64330	.	0.044427	0.85682	D	0.000000	D	0.87873	0.6287	H	0.96489	3.83	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89990	0.4107	10	0.87932	D	0	.	11.0841	0.48076	0.1556:0.0:0.8444:0.0	.	120;119;119	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	K	120;119;119;119;120	ENSP00000387228:N120K;ENSP00000387297:N119K;ENSP00000386357:N119K;ENSP00000386236:N119K;ENSP00000386286:N120K	ENSP00000386236:N119K	N	-	3	2	LRRTM4	77600146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.981000	0.49329	2.826000	0.97356	0.655000	0.94253	AAC		0.373	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		T	77746638	G	T	77746638	3	4	640	1	0	0	0	0	1	0	0	0	9044	1368	48	4	1429	4	LRRTM4	2	77746638	Missense_Mutation	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10		77746638	165452735	8	34871											
YSK4	80122	hgsc.bcm.edu	37	2	135738691	135738691	+	Missense_Mutation	SNP	C	C	G			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr2:135738691C>G	ENST00000375845.3	-	9	3650	c.3620G>C	c.(3619-3621)tGt>tCt	p.C1207S	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.C341S|MAP3K19_ENST00000392917.3_Missense_Mutation_p.C339S|MAP3K19_ENST00000358371.4_Missense_Mutation_p.C1094S|MAP3K19_ENST00000315513.3_Missense_Mutation_p.C68S|MAP3K19_ENST00000375844.3_Missense_Mutation_p.C389S	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ACGCCTGGCACAGCCAAAGTC	0.458																																																0													113	112	112					2																	135738691		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3620G>C	chr2.hg19:g.135738691C>G	ENSP00000365005:p.Cys1207Ser		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	hg19	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167028	0.78339	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000113	T	0.27384	0.0672	N	0.05031	-0.125	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;0.999;0.999;1.0	T	0.31613	-0.9937	10	0.25106	T	0.35	.	19.2304	0.93836	0.0:1.0:0.0:0.0	.	339;1094;341;389;1207	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	S	1207;1094;389;341;339;597;68	ENSP00000365005:C1207S;ENSP00000351140:C1094S;ENSP00000365004:C389S;ENSP00000376650:C341S;ENSP00000376649:C339S;ENSP00000392827:C597S;ENSP00000321160:C68S	ENSP00000321160:C68S	C	-	2	0	YSK4	135455161	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.616000	0.83018	2.782000	0.95742	0.655000	0.94253	TGT		0.458	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		G	135738691	C	G	135738691	3	3	640	1	0	0	0	0	1	0	0	0	17500	478	17	4	374	4	YSK4	2	135738691	Missense_Mutation	SNP	C	TCGA-F9-A4JJ-01A-11D-A25F-10	57992053	135738691	107460682	9	34872											
PRR21	643905	hgsc.bcm.edu	37	2	240982306	240982307	+	In_Frame_Ins	INS	-	-	AGG			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr2:240982306_240982307insAGG	ENST00000408934.1	-	1	92_93	c.93_94insCCT	c.(91-96)ggctca>ggcCCTtca	p.31_32GS>GPS		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	31										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GCCGTGGATGAGCCGTGGGGGA	0.564																																																0																																										SO:0001652	inframe_insertion	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.93_94insCCT	chr2.hg19:g.240982306_240982307insAGG	ENSP00000386166:p.Gly31_Ser32insPro			In_Frame_Ins	INS	ENST00000408934.1	hg19	CCDS33417.1																																																																																				0.564	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		AGG	240982307	-	AGG	240982306	7	5	640	1	0	1	1	0	0	0	0	0	12597	304	11	0	1078	0	PRR21	2	240982306	In_Frame_Ins	INS	-	TCGA-F9-A4JJ-01A-11D-A25F-10	105243615	240982306	2217067	10	34873											
TRIO	7204	hgsc.bcm.edu	37	5	14497115	14497115	+	Missense_Mutation	SNP	G	G	C			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr5:14497115G>C	ENST00000344204.4	+	50	8032	c.8008G>C	c.(8008-8010)Gta>Cta	p.V2670L	TRIO_ENST00000344135.5_Missense_Mutation_p.V169L|TRIO_ENST00000537187.1_Missense_Mutation_p.V2494L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2670					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAGCAACAAGGTATCTGTGAA	0.498																																																0													122	103	109					5																	14497115		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8008G>C	chr5.hg19:g.14497115G>C	ENSP00000339299:p.Val2670Leu		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	hg19	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094039	0.94149	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000344135	T;T;T	0.68025	-0.3;-0.21;-0.26	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	L	0.52759	1.655	0.32172	N	0.581488	D	0.67145	0.996	D	0.67900	0.954	T	0.81075	-0.1097	10	0.59425	D	0.04	.	17.1098	0.86672	0.0:0.0:1.0:0.0	.	2670	O75962	TRIO_HUMAN	L	2670;2494;2357;169	ENSP00000339299:V2670L;ENSP00000446348:V2494L;ENSP00000339291:V169L	ENSP00000339291:V169L	V	+	1	0	TRIO	14550115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.461000	0.83175	0.655000	0.94253	GTA		0.498	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		C	14497115	G	C	14497115	3	2	640	1	0	0	0	0	1	0	0	0	16557	1261	44	4	8206	4	TRIO	5	14497115	Missense_Mutation	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10		14497115	166418145	11	34874											
TNXB	7148	hgsc.bcm.edu	37	6	32037362	32037362	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr6:32037362C>T	ENST00000375244.3	-	15	5756	c.5555G>A	c.(5554-5556)cGt>cAt	p.R1852H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1852H			P22105	TENX_HUMAN	tenascin XB	1934					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						GGGGCCCACACGCTTGCCGTG	0.672																																																0													27	34	32					6																	32037362		2155	4268	6423	SO:0001583	missense	7148			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.5555G>A	chr6.hg19:g.32037362C>T	ENSP00000364393:p.Arg1852His		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	hg19		.	.	.	.	.	.	.	.	.	.	C	19.43	3.825390	0.71143	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.05025	3.51;3.51	5.5	4.44	0.53790	.	0.000000	0.46758	D	0.000265	T	0.22205	0.0535	M	0.93594	3.435	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09530	-1.0670	10	0.66056	D	0.02	.	12.1698	0.54152	0.0:0.9037:0.0:0.0963	.	1852	P22105-3	.	H	1852	ENSP00000364393:R1852H;ENSP00000364396:R1852H	ENSP00000364393:R1852H	R	-	2	0	TNXB	32145340	0.757000	0.28394	0.251000	0.24312	0.105000	0.19272	2.166000	0.42406	2.598000	0.87819	0.591000	0.81541	CGT		0.672	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		T	32037362	C	T	32037362	3	4	640	1	0	0	0	0	1	0	0	0	16351	536	19	1	9278	1	TNXB	6	32037362	Missense_Mutation	SNP	C	TCGA-F9-A4JJ-01A-11D-A25F-10		32037362	139077705	12	34875											
EYA4	2070	hgsc.bcm.edu	37	6	133849920	133849920	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr6:133849920G>T	ENST00000367895.5	+	20	2361	c.1897G>T	c.(1897-1899)Gca>Tca	p.A633S	EYA4_ENST00000431403.2_Missense_Mutation_p.A633S|EYA4_ENST00000430974.2_Intron|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355167.3_Missense_Mutation_p.A633S|EYA4_ENST00000355286.6_Missense_Mutation_p.A610S|EYA4_ENST00000452339.2_Missense_Mutation_p.A579S|EYA4_ENST00000525849.1_Missense_Mutation_p.A610S|EYA4_ENST00000531901.1_Missense_Mutation_p.A639S	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	633					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCTCCACCAAGCACTGGAATT	0.453																																					Melanoma(57;398 1237 3528 4702 7415)											0													260	238	245					6																	133849920		2203	4300	6503	SO:0001583	missense	2070			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1897G>T	chr6.hg19:g.133849920G>T	ENSP00000356870:p.Ala633Ser		B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	hg19	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636157	0.87760	.	.	ENSG00000112319	ENST00000452339;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	6.07	6.07	0.98685	EYA (1);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.996;0.996;0.999;0.998	D	0.96683	0.9505	10	0.87932	D	0	-22.8527	20.6593	0.99626	0.0:0.0:1.0:0.0	.	639;579;610;633;633	F2Z2Y1;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;EYA4_HUMAN	S	579;633;633;610;639;610;633	ENSP00000395916:A579S;ENSP00000356870:A633S;ENSP00000347294:A633S;ENSP00000347434:A610S;ENSP00000432770:A639S;ENSP00000433219:A610S;ENSP00000404558:A633S	ENSP00000347294:A633S	A	+	1	0	EYA4	133891613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.885000	0.99019	0.655000	0.94253	GCA		0.453	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		T	133849920	G	T	133849920	3	4	640	1	0	0	0	0	1	0	0	0	5333	971	34	4	2076	4	EYA4	6	133849920	Missense_Mutation	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10	101812558	133849920	37265147	13	34876											
CCDC132	55610	hgsc.bcm.edu	37	7	92932815	92932815	+	Missense_Mutation	SNP	T	T	G			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr7:92932815T>G	ENST00000305866.5	+	17	1533	c.1405T>G	c.(1405-1407)Tgg>Ggg	p.W469G	CCDC132_ENST00000535481.1_Missense_Mutation_p.W189G|CCDC132_ENST00000317751.6_Missense_Mutation_p.W200G|CCDC132_ENST00000544910.1_Missense_Mutation_p.W439G|CCDC132_ENST00000541136.1_Missense_Mutation_p.W280G	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	469						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GAATGAGACTTGGGAACTTTG	0.348																																																0													141	135	137					7																	92932815		1823	4079	5902	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1405T>G	chr7.hg19:g.92932815T>G	ENSP00000307666:p.Trp469Gly		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	hg19	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084073	0.76642	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	T	0.73681	-0.77	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	M	0.80982	2.52	0.80722	D	1	D;D;D	0.57899	0.967;0.981;0.967	D;D;D	0.70487	0.932;0.969;0.932	D	0.88196	0.2880	10	0.87932	D	0	-0.9767	15.0541	0.71897	0.0:0.0:0.0:1.0	.	189;439;469	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	G	469;439;280;189;200	ENSP00000325582:W200G	ENSP00000307666:W469G	W	+	1	0	CCDC132	92770751	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.794000	0.85869	2.200000	0.70718	0.460000	0.39030	TGG		0.348	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		G	92932815	T	G	92932815	3	3	640	1	0	0	0	0	1	0	0	0	2769	1812	63	5	1513	5	CCDC132	7	92932815	Missense_Mutation	SNP	T	TCGA-F9-A4JJ-01A-11D-A25F-10		92932815	66205848	14	34877											
KIF13B	23303	hgsc.bcm.edu	37	8	29037680	29037680	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr8:29037680G>A	ENST00000524189.1	-	8	699	c.661C>T	c.(661-663)Cga>Tga	p.R221*	KIF13B_ENST00000521515.1_Nonsense_Mutation_p.R221*	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	221	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCATGGGATCGGCTACTCTCC	0.438																																																0													192	192	192					8																	29037680		1932	4134	6066	SO:0001587	stop_gained	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.661C>T	chr8.hg19:g.29037680G>A	ENSP00000427900:p.Arg221*		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Nonsense_Mutation	SNP	ENST00000524189.1	hg19	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587513	0.96590	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	.	.	.	4.77	2.84	0.33178	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.45	0.61165	0.0:0.0:0.7156:0.2844	.	.	.	.	X	221	.	ENSP00000429201:R221X	R	-	1	2	KIF13B	29093599	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.457000	0.35212	1.203000	0.43233	0.563000	0.77884	CGA		0.438	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			A	29037680	G	A	29037680	4	1	640	1	0	0	0	0	0	1	0	0	8277	1124	39	1	4951	1	KIF13B	8	29037680	Nonsense_Mutation	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10		29037680	117326342	15	34878											
WWP1	11059	hgsc.bcm.edu	37	8	87443954	87443954	+	Missense_Mutation	SNP	G	G	A	rs554041348		TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr8:87443954G>A	ENST00000517970.1	+	14	1890	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	WWP1_ENST00000349423.2_Missense_Mutation_p.R310H|WWP1_ENST00000341922.2_Missense_Mutation_p.R398H|WWP1_ENST00000265428.4_Missense_Mutation_p.R528H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	528	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AAAGATCCTCGCAATGGGAAG	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.001															0													91	90	90					8																	87443954		2203	4300	6503	SO:0001583	missense	11059			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1583G>A	chr8.hg19:g.87443954G>A	ENSP00000427793:p.Arg528His		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	hg19	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986456	0.93044	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.61980	0.06;0.06;0.14;0.19	5.35	5.35	0.76521	WW/Rsp5/WWP (4);	0.302657	0.33272	N	0.005098	D	0.85592	0.5732	H	0.97732	4.065	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.60236	0.871;0.747	D	0.90859	0.4737	10	0.72032	D	0.01	.	19.0481	0.93030	0.0:0.0:1.0:0.0	.	310;528	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	H	528;528;398;310	ENSP00000427793:R528H;ENSP00000265428:R528H;ENSP00000340564:R398H;ENSP00000342665:R310H	ENSP00000265428:R528H	R	+	2	0	WWP1	87513070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.744000	0.98853	2.498000	0.84270	0.563000	0.77884	CGC		0.388	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		A	87443954	G	A	87443954	3	1	640	1	0	0	0	0	1	0	0	0	17420	1087	38	1	1629	1	WWP1	8	87443954	Missense_Mutation	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10	58406274	87443954	58920068	16	34879											
PHF20L1	51105	hgsc.bcm.edu	37	8	133829702	133829702	+	Missense_Mutation	SNP	T	T	G			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr8:133829702T>G	ENST00000395386.2	+	12	1790	c.1491T>G	c.(1489-1491)tgT>tgG	p.C497W	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.C472W	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	497							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTAATGAATGTCCCAGGGCAG	0.478																																																0													74	67	70					8																	133829702		2203	4300	6503	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1491T>G	chr8.hg19:g.133829702T>G	ENSP00000378784:p.Cys497Trp		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	hg19	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964653	0.53507	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	T;T;T;T;T	0.52057	0.73;0.68;1.42;0.7;1.43	5.27	3.01	0.34805	.	.	.	.	.	T	0.36524	0.0970	L	0.29908	0.895	0.80722	D	1	B;P;P	0.41569	0.32;0.602;0.755	B;B;B	0.43950	0.134;0.283;0.437	T	0.05451	-1.0884	9	0.38643	T	0.18	-0.054	6.933	0.24451	0.0:0.4761:0.0:0.5239	.	472;497;497	F8W9L8;A8MW92;A8MW92-4	.;P20L1_HUMAN;.	W	501;472;497;497;367;472	ENSP00000378781:C501W;ENSP00000355301:C472W;ENSP00000378784:C497W;ENSP00000324519:C497W;ENSP00000378788:C472W	ENSP00000324519:C497W	C	+	3	2	PHF20L1	133898884	0.394000	0.25246	0.875000	0.34327	0.928000	0.56348	1.393000	0.34497	0.385000	0.24970	0.477000	0.44152	TGT		0.478	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		G	133829702	T	G	133829702	3	3	640	1	0	0	0	0	1	0	0	0	11834	1673	58	5	1539	5	PHF20L1	8	133829702	Missense_Mutation	SNP	T	TCGA-F9-A4JJ-01A-11D-A25F-10	46385748	133829702	12534320	17	34880											
FLJ46321	389763	hgsc.bcm.edu	37	9	84608041	84608041	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr9:84608041G>A	ENST00000344803.2	+	4	2703	c.2656G>A	c.(2656-2658)Gtt>Att	p.V886I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	886					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGACCACTGCGTTGATACTTC	0.438																																																0													100	85	90					9																	84608041		1867	4118	5985	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2656G>A	chr9.hg19:g.84608041G>A	ENSP00000341988:p.Val886Ile			Missense_Mutation	SNP	ENST00000344803.2	hg19	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	6.075	0.382087	0.11524	.	.	ENSG00000214929	ENST00000344803	T	0.49432	0.78	2.92	-1.61	0.08399	.	1.757670	0.03395	N	0.202455	T	0.37237	0.0996	L	0.50333	1.59	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.06144	-1.0843	10	0.23302	T	0.38	0.4107	2.1957	0.03910	0.1774:0.3151:0.3841:0.1234	.	886	Q6ZQQ2	F75D1_HUMAN	I	886	ENSP00000341988:V886I	ENSP00000341988:V886I	V	+	1	0	FAM75D1	83797861	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.475000	0.00987	-0.318000	0.08665	-0.171000	0.13296	GTT		0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		A	84608041	G	A	84608041	3	1	640	1	0	0	0	0	1	0	0	0	5934	1145	40	1	2670	1	FLJ46321	9	84608041	Missense_Mutation	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10		84608041	56605390	18	34881											
ITGA8	8516	hgsc.bcm.edu	37	10	15688856	15688856	+	Missense_Mutation	SNP	T	T	C			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr10:15688856T>C	ENST00000378076.3	-	12	1549	c.1196A>G	c.(1195-1197)gAt>gGt	p.D399G		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	399					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATTGTATCCATCTTGGTTCAG	0.468																																																0													96	89	92					10																	15688856		2203	4300	6503	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1196A>G	chr10.hg19:g.15688856T>C	ENSP00000367316:p.Asp399Gly		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	hg19	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698910	0.88830	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.75589	-0.95	5.09	5.09	0.68999	.	0.093018	0.64402	D	0.000001	D	0.89322	0.6682	H	0.94264	3.515	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.943	D	0.92371	0.5905	10	0.87932	D	0	.	14.8578	0.70355	0.0:0.0:0.0:1.0	.	384;399	F5H818;P53708	.;ITA8_HUMAN	G	399;384	ENSP00000367316:D399G	ENSP00000367316:D399G	D	-	2	0	ITGA8	15728862	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.040000	0.89188	1.897000	0.54924	0.460000	0.39030	GAT		0.468	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		C	15688856	T	C	15688856	3	2	640	1	0	0	0	0	1	0	0	0	7884	1435	50	3	2071	3	ITGA8	10	15688856	Missense_Mutation	SNP	T	TCGA-F9-A4JJ-01A-11D-A25F-10		15688856	119845891	19	34882											
TRPM5	29850	hgsc.bcm.edu	37	11	2432685	2432685	+	Silent	SNP	C	C	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr11:2432685C>T	ENST00000155858.6	-	18	2687	c.2679G>A	c.(2677-2679)gcG>gcA	p.A893A	TRPM5_ENST00000452833.1_Silent_p.A895A|TRPM5_ENST00000528453.1_Silent_p.A893A|TRPM5_ENST00000533060.1_Silent_p.A893A	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTGCAGCAGCGCCTGGGTGG	0.632																																					NSCLC(1;49 61 17205 18850 43201)											0													33	37	36					11																	2432685		2202	4295	6497	SO:0001819	synonymous_variant	29850			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2679G>A	chr11.hg19:g.2432685C>T				Silent	SNP	ENST00000155858.6	hg19	CCDS31340.1																																																																																				0.632	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		T	2432685	C	T	2432685	2	4	640	1	0	0	0	0	0	0	0	1	16594	755	27	1		1	TRPM5	11	2432685	Silent	SNP	C	TCGA-F9-A4JJ-01A-11D-A25F-10		2432685	132573831	20	34883											
ACAD8	27034	hgsc.bcm.edu	37	11	134131026	134131026	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr11:134131026G>A	ENST00000281182.4	+	7	900	c.794G>A	c.(793-795)gGc>gAc	p.G265D	ACAD8_ENST00000537423.1_Missense_Mutation_p.G188D|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000543332.1_Missense_Mutation_p.G167D|ACAD8_ENST00000374752.4_Missense_Mutation_p.G138D	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	265					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	GAGGGGCAGGGCTTCCTCATT	0.587																																					GBM(65;238 1125 33403 41853 48889)											0													70	66	67					11																	134131026		2201	4297	6498	SO:0001583	missense	27034			AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"acyl-Coenzyme A dehydrogenase family, member 8"			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.794G>A	chr11.hg19:g.134131026G>A	ENSP00000281182:p.Gly265Asp		B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	hg19	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343370	0.95783	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000374752;ENST00000537915	D;D;D;D	0.99961	-9.25;-9.25;-9.25;-9.25	5.44	5.44	0.79542	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99971	0.9990	H	0.97874	4.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.996	D	0.96958	0.9699	10	0.87932	D	0	.	19.2501	0.93921	0.0:0.0:1.0:0.0	.	188;138;265	B7Z5W4;Q6ZWP6;Q9UKU7	.;.;ACAD8_HUMAN	D	265;188;167;138;227	ENSP00000281182:G265D;ENSP00000443763:G188D;ENSP00000438302:G167D;ENSP00000363884:G138D	ENSP00000281182:G265D	G	+	2	0	ACAD8	133636236	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.793000	0.99091	2.561000	0.86390	0.561000	0.74099	GGC		0.587	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		A	134131026	G	A	134131026	3	1	640	1	0	0	0	0	1	0	0	0	110	1203	42	2	820	2	ACAD8	11	134131026	Missense_Mutation	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10	131698341	134131026	875490	21	34884											
MYO1A	4640	hgsc.bcm.edu	37	12	57440666	57440666	+	Silent	SNP	G	G	A	rs561295735	byFrequency	TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr12:57440666G>A	ENST00000442789.2	-	8	809	c.522C>T	c.(520-522)ctC>ctT	p.L174L	MYO1A_ENST00000300119.3_Silent_p.L174L|MYO1A_ENST00000544473.1_Silent_p.L12L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	174	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGACACCACCGAGGGGGGATC	0.498													G|||	6	0.00119808	0.0	0.0	5008	,	,		20056	0.0		0.0	False		,,,				2504	0.0061															0													98	93	94					12																	57440666		2203	4300	6503	SO:0001819	synonymous_variant	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.522C>T	chr12.hg19:g.57440666G>A			Q9UQD7	Silent	SNP	ENST00000442789.2	hg19	CCDS8929.1																																																																																				0.498	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		A	57440666	G	A	57440666	2	1	640	1	0	0	0	0	0	0	0	1	10070	1045	37	1		1	MYO1A	12	57440666	Silent	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10		57440666	76411229	22	34885											
CFL2	1073	hgsc.bcm.edu	37	14	35182529	35182529	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr14:35182529C>T	ENST00000341223.3	-	2	393	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	CFL2_ENST00000555765.1_Missense_Mutation_p.R64Q|CFL2_ENST00000556161.1_Missense_Mutation_p.R64Q|CFL2_ENST00000298159.6_Missense_Mutation_p.R81Q	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	81	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)				breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CAAAGCATATCGGCAATCATT	0.378																																																0													113	108	109					14																	35182529		2203	4300	6503	SO:0001583	missense	1073			AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"nemaline myopathy type 7"	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.242G>A	chr14.hg19:g.35182529C>T	ENSP00000340635:p.Arg81Gln		G3V5P4	Missense_Mutation	SNP	ENST00000341223.3	hg19	CCDS9650.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521545	0.85600	.	.	ENSG00000165410	ENST00000341223;ENST00000298159;ENST00000555765;ENST00000556161	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	6.02	6.02	0.97574	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	H	0.96805	3.885	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	D	0.95938	0.8944	10	0.72032	D	0.01	-0.5517	20.5407	0.99260	0.0:1.0:0.0:0.0	.	81	Q9Y281	COF2_HUMAN	Q	81;81;64;64	ENSP00000340635:R81Q;ENSP00000298159:R81Q;ENSP00000452451:R64Q;ENSP00000452188:R64Q	ENSP00000298159:R81Q	R	-	2	0	CFL2	34252280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.747000	0.85070	2.865000	0.98341	0.655000	0.94253	CGA		0.378	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	NM_138638		T	35182529	C	T	35182529	3	4	640	1	0	0	0	0	1	0	0	0	3293	884	31	1	270	1	CFL2	14	35182529	Missense_Mutation	SNP	C	TCGA-F9-A4JJ-01A-11D-A25F-10		35182529	72167011	23	34886											
PRC1	9055	hgsc.bcm.edu	37	15	91517424	91517424	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr15:91517424G>T	ENST00000361188.5	-	11	2614	c.1403C>A	c.(1402-1404)cCt>cAt	p.P468H	PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.P468H|PRC1_ENST00000442656.2_Missense_Mutation_p.P427H|PRC1_ENST00000394249.3_Missense_Mutation_p.P468H|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1									p.P468R(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGGTGTTCGAGGAGCGCTGCC	0.498																																																1	Substitution - Missense(1)	ovary(1)											201	170	180					15																	91517424		2198	4298	6496	SO:0001583	missense	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1403C>A	chr15.hg19:g.91517424G>T	ENSP00000354679:p.Pro468His			Missense_Mutation	SNP	ENST00000361188.5	hg19	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723028	0.68959	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.37	5.37	0.77165	.	0.293466	0.39146	N	0.001451	T	0.61413	0.2345	M	0.71581	2.175	0.38985	D	0.959022	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.75484	0.976;0.976;0.976;0.986	T	0.63989	-0.6512	10	0.59425	D	0.04	-9.2179	18.9064	0.92464	0.0:0.0:1.0:0.0	.	427;468;438;468	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	H	468;468;468;71;427	ENSP00000377793:P468H;ENSP00000354618:P468H;ENSP00000354679:P468H;ENSP00000409549:P427H	ENSP00000354679:P468H	P	-	2	0	PRC1	89318428	1.000000	0.71417	0.781000	0.31783	0.590000	0.36582	6.445000	0.73456	2.788000	0.95919	0.650000	0.86243	CCT		0.498	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		T	91517424	G	T	91517424	3	4	640	1	0	0	0	0	1	0	0	0	12451	1000	35	4	479	4	PRC1	15	91517424	Missense_Mutation	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10		91517424	11013968	24	34887											
DCUN1D3	123879	hgsc.bcm.edu	37	16	20871250	20871250	+	Silent	SNP	G	G	A			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr16:20871250G>A	ENST00000324344.4	-	3	1158	c.873C>T	c.(871-873)ctC>ctT	p.L291L	DCUN1D3_ENST00000563934.1_Silent_p.L291L|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	291					negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GCCCTGAGCTGAGTGCACCTC	0.577																																																0													73	63	66					16																	20871250		2201	4300	6501	SO:0001819	synonymous_variant	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.873C>T	chr16.hg19:g.20871250G>A			B3KVY4	Silent	SNP	ENST00000324344.4	hg19	CCDS10592.1																																																																																				0.577	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		A	20871250	G	A	20871250	2	1	640	1	0	0	0	0	0	0	0	1	4317	1277	45	2		2	DCUN1D3	16	20871250	Silent	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10		20871250	69483503	25	34888											
CDH8	1006	hgsc.bcm.edu	37	16	61687954	61687954	+	Missense_Mutation	SNP	A	A	C			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr16:61687954A>C	ENST00000577390.1	-	12	2912	c.1958T>G	c.(1957-1959)aTt>aGt	p.I653S	CDH8_ENST00000299345.6_Missense_Mutation_p.I653S|CDH8_ENST00000577730.1_Missense_Mutation_p.I653S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	653					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATCTTTGATAATTAATGGTTC	0.388																																																0													81	78	79					16																	61687954		2203	4300	6503	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1958T>G	chr16.hg19:g.61687954A>C	ENSP00000462701:p.Ile653Ser		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	hg19	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.367372	0.82463	.	.	ENSG00000150394	ENST00000299345	T	0.78246	-1.16	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.39566	1.225	0.80722	D	1	B	0.23249	0.082	B	0.29663	0.105	T	0.68573	-0.5373	10	0.38643	T	0.18	.	15.1545	0.72730	1.0:0.0:0.0:0.0	.	653	P55286	CADH8_HUMAN	S	653	ENSP00000299345:I653S	ENSP00000299345:I653S	I	-	2	0	CDH8	60245455	1.000000	0.71417	0.984000	0.44739	0.916000	0.54674	9.251000	0.95483	2.164000	0.68074	0.533000	0.62120	ATT		0.388	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		C	61687954	A	C	61687954	3	2	640	1	0	0	0	0	1	0	0	0	3118	101	4	5	445	5	CDH8	16	61687954	Missense_Mutation	SNP	A	TCGA-F9-A4JJ-01A-11D-A25F-10	40816704	61687954	28666799	26	34889											
RPL13	6137	hgsc.bcm.edu	37	16	89627425	89627425	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr16:89627425C>T	ENST00000393099.3	+	1	307	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	RPL13_ENST00000452368.3_Missense_Mutation_p.R20W|SNORD68_ENST00000363214.1_RNA|RPL13_ENST00000567815.1_Missense_Mutation_p.R20W|RPL13_ENST00000311528.5_Missense_Mutation_p.R20W	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	20					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		GGACTGGCAGCGGCGCGTGGC	0.711																																																0													14	15	15					16																	89627425		2144	4198	6342	SO:0001583	missense	6137			AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"L ribosomal proteins"	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.58C>T	chr16.hg19:g.89627425C>T	ENSP00000376811:p.Arg20Trp		B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Missense_Mutation	SNP	ENST00000393099.3	hg19	CCDS10979.1	.	.	.	.	.	.	.	.	.	.	c	31	5.083913	0.94050	.	.	ENSG00000167526	ENST00000311528;ENST00000452368;ENST00000393099	T;T;T	0.32753	1.44;1.44;1.44	4.7	2.4	0.29515	.	0.117520	0.53938	U	0.000041	T	0.54679	0.1873	M	0.90705	3.14	0.48511	D	0.999666	D;D;D	0.61697	0.987;0.99;0.99	D;P;P	0.63793	0.918;0.851;0.851	T	0.60105	-0.7328	10	0.87932	D	0	-9.0218	7.8657	0.29535	0.2806:0.6293:0.0:0.0901	.	20;20;20	F5H1S2;A8K4C8;P26373	.;.;RL13_HUMAN	W	20	ENSP00000307889:R20W;ENSP00000438959:R20W;ENSP00000376811:R20W	ENSP00000307889:R20W	R	+	1	2	RPL13	88154926	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.902000	0.63266	1.107000	0.41642	0.563000	0.77884	CGG		0.711	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258294.2	NM_000977		T	89627425	C	T	89627425	3	4	640	1	0	0	0	0	1	0	0	0	13565	759	27	1	60	1	RPL13	16	89627425	Missense_Mutation	SNP	C	TCGA-F9-A4JJ-01A-11D-A25F-10	27939471	89627425	727328	27	34890											
GPR172B	55065	hgsc.bcm.edu	37	17	4937586	4937586	+	Silent	SNP	G	G	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr17:4937586G>T	ENST00000424747.1	-	3	910	c.198C>A	c.(196-198)acC>acA	p.T66T	SLC52A1_ENST00000512825.2_Silent_p.T66T|SLC52A1_ENST00000254853.5_Silent_p.T66T	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	66					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										GCCTCCACAGGGTCACCACCA	0.642																																																0													49	50	50					17																	4937586		2203	4300	6503	SO:0001819	synonymous_variant	55065			AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"Solute carriers"	30225	protein-coding gene	gene with protein product	"riboflavin transporter 1"	607883	"G protein-coupled receptor 172B"	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.198C>A	chr17.hg19:g.4937586G>T			B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Silent	SNP	ENST00000424747.1	hg19	CCDS11066.1																																																																																				0.642	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		T	4937586	G	T	4937586	2	4	640	1	0	0	0	0	0	0	0	1	6672	1219	43	4		4	GPR172B	17	4937586	Silent	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10		4937586	76257624	28	34891											
ITGA3	3675	hgsc.bcm.edu	37	17	48148253	48148253	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr17:48148253A>G	ENST00000320031.8	+	5	1040	c.710A>G	c.(709-711)tAt>tGt	p.Y237C	ITGA3_ENST00000544892.1_Missense_Mutation_p.Y12C|ITGA3_ENST00000007722.7_Missense_Mutation_p.Y237C	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	237					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTATCTGAGTATAGTTACAAG	0.502																																																0													206	211	209					17																	48148253		2203	4300	6503	SO:0001583	missense	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.710A>G	chr17.hg19:g.48148253A>G	ENSP00000315190:p.Tyr237Cys		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	hg19	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986557	0.53934	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.57107	0.42;0.42;0.42	5.69	3.33	0.38152	.	0.874333	0.10328	N	0.687966	T	0.52108	0.1714	L	0.54323	1.7	0.27793	N	0.942745	D;P	0.56968	0.978;0.898	P;B	0.48901	0.594;0.379	T	0.43442	-0.9391	10	0.46703	T	0.11	.	5.9462	0.19219	0.6614:0.173:0.0:0.1656	.	237;237	P26006-1;P26006	.;ITA3_HUMAN	C	12;237;223;237	ENSP00000446133:Y12C;ENSP00000007722:Y237C;ENSP00000315190:Y237C	ENSP00000007722:Y237C	Y	+	2	0	ITGA3	45503252	0.979000	0.34478	0.526000	0.27913	0.985000	0.73830	1.665000	0.37449	0.961000	0.38030	0.533000	0.62120	TAT		0.502	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		G	48148253	A	G	48148253	3	3	640	1	0	0	0	0	1	0	0	0	7879	449	16	3	728	3	ITGA3	17	48148253	Missense_Mutation	SNP	A	TCGA-F9-A4JJ-01A-11D-A25F-10	43210667	48148253	33046957	29	34892											
TCEB3B	51224	hgsc.bcm.edu	37	18	44560193	44560193	+	Silent	SNP	G	G	A			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr18:44560193G>A	ENST00000332567.4	-	1	1795	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	481					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGGTCATGGAGTCAGAATCCG	0.582																																																0													60	66	64					18																	44560193		2203	4300	6503	SO:0001819	synonymous_variant	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1443C>T	chr18.hg19:g.44560193G>A			Q9P2V9	Silent	SNP	ENST00000332567.4	hg19	CCDS11932.1																																																																																				0.582	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		A	44560193	G	A	44560193	2	1	640	1	0	0	0	0	0	0	0	1	15687	1020	36	2		2	TCEB3B	18	44560193	Silent	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10		44560193	33517055	30	34893											
ZNF709	163051	hgsc.bcm.edu	37	19	12574997	12574997	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr19:12574997C>T	ENST00000397732.3	-	4	1910	c.1739G>A	c.(1738-1740)aGg>aAg	p.R580K	ZNF709_ENST00000428311.1_Missense_Mutation_p.R580K|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTCCTTTCATGCAT	0.423																																					GBM(33;565 669 12371 29134 51667)											0													139	147	144					19																	12574997		2202	4300	6502	SO:0001583	missense	163051			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1739G>A	chr19.hg19:g.12574997C>T	ENSP00000380840:p.Arg580Lys		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	hg19	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656147	0.67586	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.18338	2.22;2.22	2.89	1.85	0.25348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17577	0.0422	L	0.45581	1.43	0.22127	N	0.99935	B	0.27498	0.18	B	0.33121	0.158	T	0.24190	-1.0167	9	0.48119	T	0.1	.	9.5077	0.39058	0.0:0.8844:0.0:0.1156	.	580	Q8N972	ZN709_HUMAN	K	580	ENSP00000380840:R580K;ENSP00000404127:R580K	ENSP00000404127:R580K	R	-	2	0	ZNF709;CTD-2192J16.17	12435997	0.000000	0.05858	0.050000	0.19076	0.605000	0.37080	-0.136000	0.10405	0.797000	0.33971	0.655000	0.94253	AGG		0.423	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		T	12574997	C	T	12574997	3	4	640	1	0	0	0	0	1	0	0	0	18118	681	24	2	190	2	ZNF709	19	12574997	Missense_Mutation	SNP	C	TCGA-F9-A4JJ-01A-11D-A25F-10		12574997	46553986	31	34894											
FPR3	2359	hgsc.bcm.edu	37	19	52327625	52327625	+	Silent	SNP	T	T	A			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr19:52327625T>A	ENST00000339223.4	+	2	803	c.624T>A	c.(622-624)atT>atA	p.I208I	FPR3_ENST00000595991.1_Silent_p.I208I	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	208					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						ACTTCATTATTGGCTTCAGCG	0.458																																																0													146	118	128					19																	52327625		2203	4300	6503	SO:0001819	synonymous_variant	2359				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.624T>A	chr19.hg19:g.52327625T>A				Silent	SNP	ENST00000339223.4	hg19	CCDS12841.1																																																																																				0.458	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		A	52327625	T	A	52327625	2	1	640	1	0	0	0	0	0	0	0	1	6042	1800	63	5		5	FPR3	19	52327625	Silent	SNP	T	TCGA-F9-A4JJ-01A-11D-A25F-10	39752628	52327625	6801358	32	34895											
KIAA1755	85449	hgsc.bcm.edu	37	20	36870194	36870194	+	Silent	SNP	C	C	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr20:36870194C>T	ENST00000279024.4	-	3	610	c.339G>A	c.(337-339)gaG>gaA	p.E113E		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	113										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAGACTGCTCCTCCTGGGGCT	0.557																																																0													92	90	90					20																	36870194		2203	4300	6503	SO:0001819	synonymous_variant	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.339G>A	chr20.hg19:g.36870194C>T			Q9C0A8	Silent	SNP	ENST00000279024.4	hg19	CCDS33467.1																																																																																				0.557	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		T	36870194	C	T	36870194	2	4	640	1	0	0	0	0	0	0	0	1	8259	680	24	2		2	KIAA1755	20	36870194	Silent	SNP	C	TCGA-F9-A4JJ-01A-11D-A25F-10		36870194	26155326	33	34896											
RBM11	54033	hgsc.bcm.edu	37	21	15599303	15599303	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chr21:15599303G>T	ENST00000400577.3	+	5	544	c.535G>T	c.(535-537)Gat>Tat	p.D179Y	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	179					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCATGTTCCAGATCTTGAGGC	0.458																																																0													199	186	190					21																	15599303		1928	4131	6059	SO:0001583	missense	54033			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.535G>T	chr21.hg19:g.15599303G>T	ENSP00000383421:p.Asp179Tyr		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	hg19	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	8.231	0.804684	0.16467	.	.	ENSG00000185272	ENST00000400577	T	0.08546	3.08	2.74	1.85	0.25348	.	0.523863	0.19918	N	0.103153	T	0.08758	0.0217	L	0.51422	1.61	0.09310	N	1	P	0.40144	0.704	B	0.41571	0.36	T	0.16689	-1.0394	10	0.62326	D	0.03	-7.9775	4.814	0.13358	0.2974:0.0:0.7026:0.0	.	179	P57052	RBM11_HUMAN	Y	179	ENSP00000383421:D179Y	ENSP00000383421:D179Y	D	+	1	0	RBM11	14521174	0.201000	0.23410	0.002000	0.10522	0.803000	0.45373	0.649000	0.24843	0.712000	0.32039	0.430000	0.28490	GAT		0.458	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		T	15599303	G	T	15599303	3	4	640	1	0	0	0	0	1	0	0	0	13118	942	33	4	553	4	RBM11	21	15599303	Missense_Mutation	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10		15599303	32530592	34	34897											
GRIPAP1	56850	hgsc.bcm.edu	37	X	48840222	48840222	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chrX:48840222C>T	ENST00000376441.1	-	15	1271	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E382K|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.E360K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E368K|GRIPAP1_ENST00000473581.1_5'UTR	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	413						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GTCAACTGCTCCTTCTCCTGC	0.507																																																0													268	196	221					X																	48840222		2203	4300	6503	SO:0001583	missense	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1237G>A	chrX.hg19:g.48840222C>T	ENSP00000365624:p.Glu413Lys		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	hg19	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	-	17.86	3.491722	0.64074	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.34	4.34	0.51931	.	0.072191	0.53938	D	0.000057	T	0.40670	0.1126	L	0.50333	1.59	0.40778	D	0.983142	D;D;P	0.65815	0.995;0.982;0.873	P;P;B	0.59487	0.858;0.831;0.385	T	0.30909	-0.9962	10	0.46703	T	0.11	-19.9581	15.2526	0.73559	0.0:1.0:0.0:0.0	.	360;303;413	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	K	382;368;413;382;360	ENSP00000365608:E382K;ENSP00000365627:E368K;ENSP00000365624:E413K;ENSP00000365606:E360K	ENSP00000365606:E360K	E	-	1	0	GRIPAP1	48725166	1.000000	0.71417	0.996000	0.52242	0.011000	0.07611	5.495000	0.66912	1.925000	0.55765	0.522000	0.50473	GAG		0.507	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		T	48840222	C	T	48840222	3	4	640	1	0	0	0	0	1	0	0	0	6791	864	30	2	1390	2	GRIPAP1	23	48840222	Missense_Mutation	SNP	C	TCGA-F9-A4JJ-01A-11D-A25F-10		48840222	106430338	35	34898											
PCDH11X	27328	hgsc.bcm.edu	37	X	91133625	91133625	+	Missense_Mutation	SNP	C	C	A			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chrX:91133625C>A	ENST00000373094.1	+	2	3231	c.2386C>A	c.(2386-2388)Cca>Aca	p.P796T	PCDH11X_ENST00000361724.1_Missense_Mutation_p.P796T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P796T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P796T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P796T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P796T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P796T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P796T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P796T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	796					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCAGTGACCCCAAATACTGA	0.438																																					NSCLC(38;925 1092 2571 38200 45895)											0													145	118	127					X																	91133625		2203	4300	6503	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2386C>A	chrX.hg19:g.91133625C>A	ENSP00000362186:p.Pro796Thr		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	hg19	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.399277	0.00198	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.15	2.3	0.28687	Protocadherin (1);	0.414782	0.27245	N	0.020252	T	0.25382	0.0617	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B;B;B	0.22909	0.077;0.017;0.035;0.035;0.035;0.044;0.077;0.032	B;B;B;B;B;B;B;B	0.25987	0.062;0.026;0.039;0.039;0.039;0.065;0.062;0.062	T	0.14559	-1.0468	10	0.22109	T	0.4	.	15.2794	0.73770	0.0:0.4515:0.5485:0.0	.	796;796;796;796;796;796;796;796	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	796	ENSP00000378746:P796T;ENSP00000362186:P796T;ENSP00000362189:P796T;ENSP00000355040:P796T;ENSP00000362180:P796T;ENSP00000423762:P796T;ENSP00000355105:P796T;ENSP00000384758:P796T;ENSP00000298274:P796T	ENSP00000298274:P796T	P	+	1	0	PCDH11X	91020281	0.999000	0.42202	0.001000	0.08648	0.003000	0.03518	1.394000	0.34509	0.053000	0.16036	-0.226000	0.12346	CCA		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		A	91133625	C	A	91133625	3	1	640	1	0	0	0	0	1	0	0	0	11510	623	22	4	2392	4	PCDH11X	23	91133625	Missense_Mutation	SNP	C	TCGA-F9-A4JJ-01A-11D-A25F-10	42293403	91133625	64136935	36	34899											
LAMP2	3920	hgsc.bcm.edu	37	X	119581842	119581842	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A4JJ-01A-11D-A25F-10	TCGA-F9-A4JJ-10A-01D-A25F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	0e4d764c-5196-4566-ae92-e291608bcd73	05c628cd-15ec-47b2-851d-fdcd131c5172	g.chrX:119581842G>A	ENST00000200639.4	-	5	731	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	LAMP2_ENST00000434600.2_Missense_Mutation_p.P199S|LAMP2_ENST00000538785.1_Missense_Mutation_p.P88S|LAMP2_ENST00000540603.1_Missense_Mutation_p.P152S|LAMP2_ENST00000371335.4_Missense_Mutation_p.P199S			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	199	Hinge.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGTATGGTGGGTGCCACTGTT	0.408																																																0													229	204	212					X																	119581842		2203	4300	6503	SO:0001583	missense	3920			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.595C>T	chrX.hg19:g.119581842G>A	ENSP00000200639:p.Pro199Ser		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	hg19	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623881	0.46840	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T;T	0.66995	-0.15;0.23;-0.24;-0.13;-0.13	5.98	3.11	0.35812	.	0.053375	0.85682	D	0.000000	T	0.81823	0.4904	M	0.88704	2.975	0.19775	N	0.99996	D;D;D;D;D	0.76494	0.997;0.995;0.996;0.999;0.995	D;D;D;D;D	0.73708	0.965;0.965;0.941;0.981;0.965	T	0.72802	-0.4183	10	0.72032	D	0.01	-7.1395	10.4302	0.44403	0.0:0.1116:0.5665:0.3219	.	152;88;199;199;199	B4E2S7;B7Z2R9;P13473-2;P13473;Q6Q3G8	.;.;.;LAMP2_HUMAN;.	S	199;88;199;199;152	ENSP00000408411:P199S;ENSP00000440506:P88S;ENSP00000200639:P199S;ENSP00000360386:P199S;ENSP00000440479:P152S	ENSP00000200639:P199S	P	-	1	0	LAMP2	119465870	0.975000	0.34042	0.079000	0.20413	0.014000	0.08584	1.620000	0.36976	1.244000	0.43870	0.600000	0.82982	CCC		0.408	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			A	119581842	G	A	119581842	3	1	640	1	0	0	0	0	1	0	0	0	8620	1261	44	2	948	2	LAMP2	23	119581842	Missense_Mutation	SNP	G	TCGA-F9-A4JJ-01A-11D-A25F-10	28448217	119581842	35688718	37	34900											
TTN	7273	hgsc.bcm.edu	37	2	179612896	179612896	+	Intron	SNP	T	T	C			TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr2:179612896T>C	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E4744G|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			ATCAGTTTCTTCTATATCTGC	0.363																																																0													65	66	66					2																	179612896		2201	4297	6498	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4954A>G	chr2.hg19:g.179612896T>C			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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	T	10.89	1.478131	0.26511	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57107	0.42	5.54	-2.93	0.05598	.	.	.	.	.	T	0.23171	0.0560	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22765	-1.0207	9	0.66056	D	0.02	.	13.0978	0.59202	0.0:0.2102:0.0:0.7898	.	4744	Q8WZ42-6	.	G	4744;58	ENSP00000354117:E4744G	ENSP00000304714:E58G	E	-	2	0	TTN	179321141	0.004000	0.15560	0.000000	0.03702	0.008000	0.06430	0.313000	0.19415	-0.565000	0.06061	-0.248000	0.11899	GAA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179612896	T	C	179612896	1	2	641	0	1	0	0	0	0	0	0	0	16740	1783	62	3		3	TTN	2	179612896	Intron	SNP	T	TCGA-F9-A7Q0-01A-11D-A35Z-10		179612896	63586477	1	34901											
QARS	5859	hgsc.bcm.edu	37	3	49137278	49137278	+	Missense_Mutation	SNP	T	T	C	rs143462532		TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr3:49137278T>C	ENST00000306125.6	-	15	1641	c.1304A>G	c.(1303-1305)tAt>tGt	p.Y435C	QARS_ENST00000414533.1_Missense_Mutation_p.Y424C|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	435					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTAGGTGGGATAGATGCACCT	0.627																																																0								T	CYS/TYR	0,4406		0,0,2203	174	160	165		1304	5.2	1	3	dbSNP_134	165	1,8599	1.2+/-3.3	0,1,4299	no	missense	QARS	NM_005051.1	194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	435/776	49137278	1,13005	2203	4300	6503	SO:0001583	missense	5859			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1304A>G	chr3.hg19:g.49137278T>C	ENSP00000307567:p.Tyr435Cys		B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	hg19	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669713	0.67814	0.0	1.16E-4	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.26067	1.76;1.76	5.17	5.17	0.71159	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	H	0.99565	4.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84542	0.0639	10	0.87932	D	0	-16.4213	15.0382	0.71767	0.0:0.0:0.0:1.0	.	424;435	B4DWJ2;P47897	.;SYQ_HUMAN	C	435;424	ENSP00000307567:Y435C;ENSP00000390015:Y424C	ENSP00000307567:Y435C	Y	-	2	0	QARS	49112282	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.593000	0.82686	1.948000	0.56530	0.533000	0.62120	TAT		0.627	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		C	49137278	T	C	49137278	3	2	641	1	0	0	0	0	1	0	0	0	12877	1406	49	3	1063	3	QARS	3	49137278	Missense_Mutation	SNP	T	TCGA-F9-A7Q0-01A-11D-A35Z-10		49137278	148885152	2	34902											
CLDN11	5010	hgsc.bcm.edu	37	3	170150353	170150353	+	Missense_Mutation	SNP	G	G	A	rs549752354		TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr3:170150353G>A	ENST00000064724.3	+	3	635	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	145					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A145T(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCCTGTGTGCGCCCACCGTGA	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17627	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	lung(1)											164	147	153					3																	170150353		2203	4300	6503	SO:0001583	missense	5010			AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"Claudins"	8514	protein-coding gene	gene with protein product		601326	"oligodendrocyte transmembrane protein"	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.433G>A	chr3.hg19:g.170150353G>A	ENSP00000064724:p.Ala145Thr		B2R7C1|D3DNQ5|Q5U0P3	Missense_Mutation	SNP	ENST00000064724.3	hg19	CCDS3213.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146380	0.77888	.	.	ENSG00000013297	ENST00000064724	D	0.88586	-2.4	5.74	5.74	0.90152	.	0.051247	0.85682	D	0.000000	T	0.80210	0.4581	L	0.31157	0.91	0.80722	D	1	P	0.41214	0.742	B	0.31191	0.125	T	0.80852	-0.1197	10	0.39692	T	0.17	.	13.1577	0.59527	0.0728:0.0:0.9272:0.0	.	145	O75508	CLD11_HUMAN	T	145	ENSP00000064724:A145T	ENSP00000064724:A145T	A	+	1	0	CLDN11	171633047	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	5.137000	0.64789	2.723000	0.93209	0.655000	0.94253	GCC		0.607	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352403.1	NM_005602		A	170150353	G	A	170150353	3	1	641	1	0	0	0	0	1	0	0	0	3475	1087	38	1	443	1	CLDN11	3	170150353	Missense_Mutation	SNP	G	TCGA-F9-A7Q0-01A-11D-A35Z-10	121013075	170150353	27872077	3	34903											
PCDHB2	56133	hgsc.bcm.edu	37	5	140476411	140476411	+	Silent	SNP	A	A	C			TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr5:140476411A>C	ENST00000194155.4	+	1	2185	c.2037A>C	c.(2035-2037)gcA>gcC	p.A679A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	679					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A679A(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGGCGGCACCGGCCCAGG	0.687																																																1	Substitution - coding silent(1)	lung(1)											65	67	66					5																	140476411		2178	4247	6425	SO:0001819	synonymous_variant	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2037A>C	chr5.hg19:g.140476411A>C			Q4KMU1	Silent	SNP	ENST00000194155.4	hg19	CCDS4244.1																																																																																				0.687	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		C	140476411	A	C	140476411	2	2	641	1	0	0	0	0	0	0	0	1	11544	146	6	5		5	PCDHB2	5	140476411	Silent	SNP	A	TCGA-F9-A7Q0-01A-11D-A35Z-10		140476411	40438849	4	34904											
KIF4B	285643	hgsc.bcm.edu	37	5	154395607	154395607	+	Nonsense_Mutation	SNP	G	G	T	rs267600506		TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr5:154395607G>T	ENST00000435029.4	+	1	2348	c.2188G>T	c.(2188-2190)Gag>Tag	p.E730*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	730	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAAGCGGAAAGAGACTCAGAG	0.493																																																0													96	95	95					5																	154395607		2203	4300	6503	SO:0001587	stop_gained	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2188G>T	chr5.hg19:g.154395607G>T	ENSP00000387875:p.Glu730*			Nonsense_Mutation	SNP	ENST00000435029.4	hg19	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.119569	0.77323	.	.	ENSG00000226650	ENST00000435029	.	.	.	2.54	1.63	0.23807	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	9.0371	0.36293	0.0:0.2298:0.7702:0.0	.	.	.	.	X	730	.	ENSP00000387875:E730X	E	+	1	0	KIF4B	154375800	1.000000	0.71417	0.092000	0.20876	0.077000	0.17291	2.376000	0.44292	0.185000	0.20105	-0.257000	0.10917	GAG		0.493	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			T	154395607	G	T	154395607	4	4	641	1	0	0	0	0	0	1	0	0	8306	943	33	4	2190	4	KIF4B	5	154395607	Nonsense_Mutation	SNP	G	TCGA-F9-A7Q0-01A-11D-A35Z-10	13919196	154395607	26519653	5	34905											
WNT2	7472	hgsc.bcm.edu	37	7	116937828	116937828	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr7:116937828C>T	ENST00000265441.3	-	4	990	c.691G>A	c.(691-693)Ggc>Agc	p.G231S		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	231					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGATAATCGCCCGTTTTCCTG	0.532																																																0													107	98	101					7																	116937828		2203	4300	6503	SO:0001583	missense	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.691G>A	chr7.hg19:g.116937828C>T	ENSP00000265441:p.Gly231Ser		A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	hg19	CCDS5771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.00|15.00	2.704256|2.704256	0.48412|0.48412	.|.	.|.	ENSG00000105989|ENSG00000105989	ENST00000491214|ENST00000265441	T|T	0.64618|0.80824	-0.11|-1.42	5.58|5.58	4.7|4.7	0.59300|0.59300	.|.	0.048024|0.048024	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.90700|0.90700	0.7082|0.7082	M|M	0.86651|0.86651	2.83|2.83	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.65815	.|0.995;0.995	.|D;D	.|0.76575	.|0.988;0.988	D|D	0.92513|0.92513	0.6018|0.6018	8|10	0.87932|0.87932	D|D	0|0	.|.	15.8497|15.8497	0.78921|0.78921	0.0:0.864:0.136:0.0|0.0:0.864:0.136:0.0	.|.	.|231;231	.|A4D0V1;P09544	.|.;WNT2_HUMAN	E|S	138|231	ENSP00000419466:G138E|ENSP00000265441:G231S	ENSP00000419466:G138E|ENSP00000265441:G231S	G|G	-|-	2|1	0|0	WNT2|WNT2	116725064|116725064	1.000000|1.000000	0.71417|0.71417	0.911000|0.911000	0.35937|0.35937	0.478000|0.478000	0.33099|0.33099	7.776000|7.776000	0.85560|0.85560	1.479000|1.479000	0.48272|0.48272	0.561000|0.561000	0.74099|0.74099	GGG|GGC		0.532	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		T	116937828	C	T	116937828	3	4	641	1	0	0	0	0	1	0	0	0	17391	623	22	2	399	2	WNT2	7	116937828	Missense_Mutation	SNP	C	TCGA-F9-A7Q0-01A-11D-A35Z-10		116937828	42200835	6	34906											
INCENP	3619	hgsc.bcm.edu	37	11	61914249	61914249	+	Silent	SNP	G	G	C	rs113959967	byFrequency	TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr11:61914249G>C	ENST00000394818.3	+	15	2281	c.2079G>C	c.(2077-2079)cgG>cgC	p.R693R	INCENP_ENST00000278849.4_Silent_p.R689R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	693					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						aggagcggcgggagcaggagc	0.721													G|||	23	0.00459265	0.0045	0.0	5008	,	,		11611	0.004		0.005	False		,,,				2504	0.0082															0																																										SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2079G>C	chr11.hg19:g.61914249G>C			A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	hg19	CCDS44624.1																																																																																				0.721	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		C	61914249	G	C	61914249	2	2	641	1	0	0	0	0	0	0	0	1	7735	1219	43	4		4	INCENP	11	61914249	Silent	SNP	G	TCGA-F9-A7Q0-01A-11D-A35Z-10		61914249	73092267	7	34907			1	59		2	2	31	N	G_C	1.550538e-05
INCENP	3619	hgsc.bcm.edu	37	11	61914279	61914279	+	Silent	SNP	C	C	G	rs371735595	byFrequency	TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr11:61914279C>G	ENST00000394818.3	+	15	2311	c.2109C>G	c.(2107-2109)cgC>cgG	p.R703R	INCENP_ENST00000278849.4_Silent_p.R699R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	703					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						aggagcggcgcgagcaggagc	0.751																																																0													3	5	4					11																	61914279		1777	3550	5327	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2109C>G	chr11.hg19:g.61914279C>G			A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	hg19	CCDS44624.1																																																																																				0.751	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		G	61914279	C	G	61914279	2	3	641	1	0	0	0	0	0	0	0	1	7735	755	27	4		4	INCENP	11	61914279	Silent	SNP	C	TCGA-F9-A7Q0-01A-11D-A35Z-10	30	61914279	73092237	8	34908			1	59		2	2	31	N	G_C	1.550538e-05
SAV1	60485	hgsc.bcm.edu	37	14	51101991	51101991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr14:51101991A>T	ENST00000324679.4	-	5	1425	c.1062T>A	c.(1060-1062)taT>taA	p.Y354*	RN7SL452P_ENST00000482923.2_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	354	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TGTATGCTTCATACATTTTAA	0.413																																																0													126	119	122					14																	51101991		2203	4300	6503	SO:0001587	stop_gained	60485			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"WW domain-containing adaptor 45"	607203	"salvador homolog 1 (Drosophila)"			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.1062T>A	chr14.hg19:g.51101991A>T	ENSP00000324729:p.Tyr354*		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Nonsense_Mutation	SNP	ENST00000324679.4	hg19	CCDS9701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.47|15.47	2.841904|2.841904	0.51057|0.51057	.|.	.|.	ENSG00000151748|ENSG00000151748	ENST00000557458|ENST00000555720;ENST00000324679;ENST00000535862	.|.	.|.	.|.	5.77|5.77	3.38|3.38	0.38709|0.38709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.02654	.|T	.|1	-11.6598|-11.6598	7.6945|7.6945	0.28587|0.28587	0.7701:0.0:0.2299:0.0|0.7701:0.0:0.2299:0.0	.|.	.|.	.|.	.|.	R|X	60|286;354;321	.|.	.|ENSP00000324729:Y354X	X|Y	-|-	1|3	0|2	SAV1|SAV1	50171741|50171741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.493000|0.493000	0.33554|0.33554	0.704000|0.704000	0.25661|0.25661	0.966000|0.966000	0.38159|0.38159	0.533000|0.533000	0.62120|0.62120	TGA|TAT		0.413	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			T	51101991	A	T	51101991	4	4	641	1	0	0	0	0	0	1	0	0	13862	224	8	5	93	5	SAV1	14	51101991	Nonsense_Mutation	SNP	A	TCGA-F9-A7Q0-01A-11D-A35Z-10		51101991	56247549	9	34909											
ZNF19	7567	hgsc.bcm.edu	37	16	71509777	71509777	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr16:71509777C>T	ENST00000288177.5	-	6	928	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	ZNF19_ENST00000565637.1_Missense_Mutation_p.A183T|ZNF19_ENST00000565100.2_Missense_Mutation_p.A155T|ZNF19_ENST00000564230.1_Missense_Mutation_p.A225T|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TCATTAAAGGCTCGCCCACAC	0.453																																																0													69	77	75					16																	71509777		2198	4300	6498	SO:0001583	missense	7567			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"Zinc fingers, C2H2-type", "-"	12981	protein-coding gene	gene with protein product		194525	"zinc finger protein 19 (KOX 12)"			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.673G>A	chr16.hg19:g.71509777C>T	ENSP00000288177:p.Ala225Thr		A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	hg19	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350126	0.61183	.	.	ENSG00000157429	ENST00000288177	T	0.16897	2.31	3.4	3.4	0.38934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35495	N	0.003161	T	0.07683	0.0193	N	0.04880	-0.145	0.27067	N	0.963422	B	0.25351	0.124	B	0.28385	0.089	T	0.19745	-1.0296	10	0.33141	T	0.24	.	6.7551	0.23510	0.0:0.8751:0.0:0.1248	.	225	P17023	ZNF19_HUMAN	T	225	ENSP00000288177:A225T	ENSP00000288177:A225T	A	-	1	0	ZNF19	70067278	0.000000	0.05858	0.946000	0.38457	0.873000	0.50193	0.356000	0.20181	2.202000	0.70862	0.655000	0.94253	GCC		0.453	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		T	71509777	C	T	71509777	3	4	641	1	0	0	0	0	1	0	0	0	17760	797	28	2	707	2	ZNF19	16	71509777	Missense_Mutation	SNP	C	TCGA-F9-A7Q0-01A-11D-A35Z-10		71509777	18844976	10	34910											
RFFL	117584	hgsc.bcm.edu	37	17	33348798	33348798	+	Silent	SNP	C	C	T			TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr17:33348798C>T	ENST00000315249.7	-	3	405	c.183G>A	c.(181-183)caG>caA	p.Q61Q	RFFL_ENST00000584655.1_Silent_p.Q61Q|RFFL_ENST00000378516.2_Silent_p.Q61Q|RFFL_ENST00000447669.2_Silent_p.Q61Q|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Silent_p.Q61Q|RFFL_ENST00000413582.2_Silent_p.Q61Q|RFFL_ENST00000415395.2_Silent_p.Q61Q|RFFL_ENST00000394597.2_Silent_p.Q61Q					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCAAGCAGGTCTGCTGCTTAG	0.517																																																0													52	52	52					17																	33348798		2203	4299	6502	SO:0001819	synonymous_variant	117584			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.183G>A	chr17.hg19:g.33348798C>T				Silent	SNP	ENST00000315249.7	hg19	CCDS11286.1																																																																																				0.517	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		T	33348798	C	T	33348798	2	4	641	1	0	0	0	0	0	0	0	1	13256	912	32	2		2	RFFL	17	33348798	Silent	SNP	C	TCGA-F9-A7Q0-01A-11D-A35Z-10		33348798	47846412	11	34911											
MUC16	94025	hgsc.bcm.edu	37	19	9008207	9008207	+	Silent	SNP	G	G	A			TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr19:9008207G>A	ENST00000397910.4	-	41	39548	c.39345C>T	c.(39343-39345)ccC>ccT	p.P13115P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13117	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGGTGTAGGGGCCCAGCT	0.547																																																0													210	191	197					19																	9008207		2018	4185	6203	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39345C>T	chr19.hg19:g.9008207G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	hg19	CCDS54212.1																																																																																				0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		A	9008207	G	A	9008207	2	1	641	1	0	0	0	0	0	0	0	1	9975	987	35	2		2	MUC16	19	9008207	Silent	SNP	G	TCGA-F9-A7Q0-01A-11D-A35Z-10		9008207	50120776	12	34912											
DNM2	1785	hgsc.bcm.edu	37	19	10886526	10886526	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr19:10886526A>G	ENST00000355667.6	+	4	613	c.533A>G	c.(532-534)aAc>aGc	p.N178S	DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000408974.4_Missense_Mutation_p.N178S|DNM2_ENST00000314646.5_Missense_Mutation_p.N178S|DNM2_ENST00000359692.6_Missense_Mutation_p.N178S|DNM2_ENST00000585892.1_Missense_Mutation_p.N178S|DNM2_ENST00000389253.4_Missense_Mutation_p.N178S	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	178	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACGCCCGCCAACATGGACCTG	0.607			"F, N, Splice, Mis, O"		ETP ALL																																		Rec	yes		19	19p13.2	1785	dynamin 2		L	0													74	68	70					19																	10886526		2203	4300	6503	SO:0001583	missense	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.533A>G	chr19.hg19:g.10886526A>G	ENSP00000347890:p.Asn178Ser		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	hg19	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224596	0.79576	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36	5.38	5.38	0.77491	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	M	0.83852	2.665	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;1.0;0.988	D;P;D;P	0.71656	0.974;0.693;0.974;0.678	D	0.99334	1.0910	10	0.87932	D	0	.	14.3763	0.66879	1.0:0.0:0.0:0.0	.	178;178;178;178	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	S	167;178;178;178;178;178	ENSP00000386192:N178S;ENSP00000347890:N178S;ENSP00000352721:N178S;ENSP00000373905:N178S;ENSP00000313164:N178S	ENSP00000313164:N178S	N	+	2	0	DNM2	10747526	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	9.339000	0.96797	2.046000	0.60703	0.459000	0.35465	AAC		0.607	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		G	10886526	A	G	10886526	3	3	641	1	0	0	0	0	1	0	0	0	4674	43	2	3	547	3	DNM2	19	10886526	Missense_Mutation	SNP	A	TCGA-F9-A7Q0-01A-11D-A35Z-10	1878319	10886526	48242457	13	34913											
CYP2A7	1549	hgsc.bcm.edu	37	19	41386516	41386516	+	Missense_Mutation	SNP	C	C	A	rs376282662		TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr19:41386516C>A	ENST00000301146.4	-	3	902	c.361G>T	c.(361-363)Ggg>Tgg	p.G121W	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.G70W	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	121						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCGCGCTCCCCGTTGCTGAAC	0.701																																																0													17	16	16					19																	41386516		2159	4179	6338	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.361G>T	chr19.hg19:g.41386516C>A	ENSP00000301146:p.Gly121Trp		Q13121	Missense_Mutation	SNP	ENST00000301146.4	hg19	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	c	13.70	2.314842	0.40996	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.20200	4.45;2.09	2.16	2.16	0.27623	.	0.059304	0.64402	N	0.000003	T	0.45296	0.1335	H	0.94385	3.53	0.40331	D	0.978924	D;D;P	0.56521	0.976;0.965;0.772	P;P;B	0.52386	0.697;0.674;0.286	T	0.63800	-0.6555	10	0.72032	D	0.01	.	11.4345	0.50060	0.0:1.0:0.0:0.0	.	121;70;121	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	W	121;70	ENSP00000301146:G121W;ENSP00000291764:G70W	ENSP00000291764:G70W	G	-	1	0	CYP2A7	46078356	0.463000	0.25799	0.369000	0.25952	0.023000	0.10783	1.564000	0.36375	1.211000	0.43351	0.175000	0.17021	GGG		0.701	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		A	41386516	C	A	41386516	3	1	641	1	0	0	0	0	1	0	0	0	4165	652	23	4	1151	4	CYP2A7	19	41386516	Missense_Mutation	SNP	C	TCGA-F9-A7Q0-01A-11D-A35Z-10	30499990	41386516	17742467	14	34914											
BPIL1	80341	hgsc.bcm.edu	37	20	31608183	31608183	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr20:31608183G>A	ENST00000170150.3	+	12	1325	c.1130G>A	c.(1129-1131)gGg>gAg	p.G377E		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	377						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										AAGCTTCAGGGGACCACGTCT	0.602																																																0													115	100	105					20																	31608183		2203	4300	6503	SO:0001583	missense	80341			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1130G>A	chr20.hg19:g.31608183G>A	ENSP00000170150:p.Gly377Glu		Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	hg19	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904186	0.52333	.	.	ENSG00000078898	ENST00000170150	T	0.16897	2.31	4.24	2.23	0.28157	.	0.263443	0.27039	N	0.021235	T	0.25865	0.0630	M	0.66939	2.045	0.40553	D	0.981136	P	0.45634	0.863	P	0.48738	0.588	T	0.06679	-1.0813	10	0.66056	D	0.02	-12.3476	10.618	0.45462	0.0:0.3805:0.6195:0.0	.	377	Q8N4F0	BPIB2_HUMAN	E	377	ENSP00000170150:G377E	ENSP00000170150:G377E	G	+	2	0	BPIFB2	31071844	0.925000	0.31364	0.836000	0.33094	0.727000	0.41649	1.133000	0.31430	0.703000	0.31848	0.561000	0.74099	GGG		0.602	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		A	31608183	G	A	31608183	3	1	641	1	0	0	0	0	1	0	0	0	1493	1232	43	2	1172	2	BPIL1	20	31608183	Missense_Mutation	SNP	G	TCGA-F9-A7Q0-01A-11D-A35Z-10		31608183	31417337	15	34915											
AURKA	6790	hgsc.bcm.edu	37	20	54963211	54963211	+	Splice_Site	SNP	C	C	G			TCGA-F9-A7Q0-01A-11D-A35Z-10	TCGA-F9-A7Q0-10B-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8a7f344-08bd-4b20-bbdd-94915425f00f	dfc4913f-381a-4897-828e-6f8666d652ef	g.chr20:54963211C>G	ENST00000347343.2	-	2	310		c.e2+1		AURKA_ENST00000395909.4_Splice_Site|AURKA_ENST00000395915.3_Splice_Site|AURKA_ENST00000395913.3_Splice_Site|AURKA_ENST00000371356.2_Splice_Site|AURKA_ENST00000395911.1_Splice_Site|AURKA_ENST00000395914.1_Splice_Site|AURKA_ENST00000395907.1_Splice_Site|AURKA_ENST00000312783.6_Splice_Site	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.?(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			ATTCAATTTACCTTAACAGGT	0.358																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)											1	Unknown(1)	lung(1)											110	116	114					20																	54963211		2203	4300	6503	SO:0001630	splice_region_variant	6790			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11393	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 47", "Aurora-A kinase"	603072	"serine/threonine kinase 15", " serine/threonine kinase 6"	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.42+1G>C	chr20.hg19:g.54963211C>G			E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Splice_Site	SNP	ENST00000347343.2	hg19	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843515	0.51057	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249;ENST00000451915	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6225	0.56612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AURKA	54396618	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.235000	0.51328	2.329000	0.79093	0.585000	0.79938	.		0.358	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600	Intron	G	54963211	C	G	54963211	5	3	641	1	0	0	0	0	0	0	1	0	1221	521	18	4	1200	4	AURKA	20	54963211	Splice_Site	SNP	C	TCGA-F9-A7Q0-01A-11D-A35Z-10	23355028	54963211	8062309	16	34916											
HSPG2	3339	hgsc.bcm.edu	37	1	22180783	22180783	+	Silent	SNP	T	T	C			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr1:22180783T>C	ENST00000374695.3	-	50	6421	c.6342A>G	c.(6340-6342)gaA>gaG	p.E2114E	HSPG2_ENST00000430507.1_Silent_p.E64E	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2114	Ig-like C2-type 6.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGCACACATATTCTCCAGAAT	0.637																																																0													24	22	22					1																	22180783		2196	4288	6484	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6342A>G	chr1.hg19:g.22180783T>C			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	hg19	CCDS30625.1																																																																																				0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		C	22180783	T	C	22180783	2	2	642	1	0	0	0	0	0	0	0	1	7432	1490	52	3		3	HSPG2	1	22180783	Silent	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10		22180783	227069838	1	34917											
HIVEP3	59269	hgsc.bcm.edu	37	1	41976929	41976929	+	Silent	SNP	G	G	T	rs146058477		TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr1:41976929G>T	ENST00000372583.1	-	9	7299	c.6414C>A	c.(6412-6414)gcC>gcA	p.A2138A	HIVEP3_ENST00000247584.5_Silent_p.A2138A|HIVEP3_ENST00000429157.2_Silent_p.A2137A|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Silent_p.A2137A	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2138	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCGGGACTCGGCCTTCTGCT	0.632																																																0													36	38	37					1																	41976929		2200	4299	6499	SO:0001819	synonymous_variant	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6414C>A	chr1.hg19:g.41976929G>T			A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	hg19	CCDS463.1																																																																																				0.632	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		T	41976929	G	T	41976929	2	4	642	1	0	0	0	0	0	0	0	1	7190	1103	39	4		4	HIVEP3	1	41976929	Silent	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10	19796146	41976929	207273692	2	34918											
ZSWIM5	57643	hgsc.bcm.edu	37	1	45485775	45485775	+	Silent	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr1:45485775C>T	ENST00000359600.5	-	13	2863	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	886						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATCGTACCATCTCCCTGCGTC	0.552																																																0													90	88	89					1																	45485775		2052	4181	6233	SO:0001819	synonymous_variant	57643			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2658G>A	chr1.hg19:g.45485775C>T			Q5SXQ9	Silent	SNP	ENST00000359600.5	hg19	CCDS41319.1																																																																																				0.552	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		T	45485775	C	T	45485775	2	4	642	1	0	0	0	0	0	0	0	1	18249	912	32	2		2	ZSWIM5	1	45485775	Silent	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	3508846	45485775	203764846	3	34919											
DDX20	11218	hgsc.bcm.edu	37	1	112299342	112299342	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr1:112299342C>T	ENST00000369702.4	+	2	996	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	FAM212B_ENST00000412270.1_5'Flank|DDX20_ENST00000536167.1_Missense_Mutation_p.L126F|FAM212B_ENST00000444059.2_5'Flank	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	126	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTCTTGTTCTTGAAAACTT	0.428																																																0													104	98	100					1																	112299342		2203	4300	6503	SO:0001583	missense	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.376C>T	chr1.hg19:g.112299342C>T	ENSP00000358716:p.Leu126Phe		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	hg19	CCDS842.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729711	0.69074	.	.	ENSG00000064703	ENST00000369702;ENST00000536167	T;T	0.35048	2.45;1.33	5.6	4.68	0.58851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.064498	0.64402	D	0.000007	T	0.36248	0.0960	L	0.35341	1.055	0.49915	D	0.999835	D	0.71674	0.998	D	0.71870	0.975	T	0.27020	-1.0086	10	0.51188	T	0.08	-12.9842	13.7769	0.63059	0.1539:0.8461:0.0:0.0	.	126	Q9UHI6	DDX20_HUMAN	F	126	ENSP00000358716:L126F;ENSP00000439026:L126F	ENSP00000358716:L126F	L	+	1	0	DDX20	112100865	0.997000	0.39634	0.976000	0.42696	0.997000	0.91878	1.848000	0.39309	1.342000	0.45619	0.555000	0.69702	CTT		0.428	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		T	112299342	C	T	112299342	3	4	642	1	0	0	0	0	1	0	0	0	4350	913	32	2	382	2	DDX20	1	112299342	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	66813567	112299342	136951279	4	34920											
RFX5	5993	hgsc.bcm.edu	37	1	151317225	151317225	+	Missense_Mutation	SNP	T	T	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr1:151317225T>A	ENST00000290524.4	-	6	510	c.332A>T	c.(331-333)cAa>cTa	p.Q111L	RFX5_ENST00000368870.2_Missense_Mutation_p.Q111L|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Intron|RP11-126K1.8_ENST00000422153.1_RNA|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000452671.2_Missense_Mutation_p.Q111L	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	111					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATAAACACTTTGCTTTGGCAG	0.542																																																0													68	56	60					1																	151317225		2203	4300	6503	SO:0001583	missense	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.332A>T	chr1.hg19:g.151317225T>A	ENSP00000290524:p.Gln111Leu		B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	hg19	CCDS994.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.666797	0.88251	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000392746;ENST00000422595;ENST00000450506;ENST00000458484;ENST00000430227;ENST00000412774	D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.43	5.43	0.79202	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.88683	0.6503	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.90114	0.4194	10	0.72032	D	0.01	-13.3181	14.4364	0.67284	0.0:0.0:0.0:1.0	.	111	P48382	RFX5_HUMAN	L	111;111;3;111;111;111;111;111;111;111	ENSP00000290524:Q111L;ENSP00000357864:Q111L;ENSP00000390769:Q3L;ENSP00000389130:Q111L;ENSP00000376502:Q111L;ENSP00000399095:Q111L;ENSP00000398666:Q111L;ENSP00000409187:Q111L;ENSP00000387618:Q111L	ENSP00000290524:Q111L	Q	-	2	0	RFX5	149583849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.068000	0.76748	2.279000	0.76181	0.533000	0.62120	CAA		0.542	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		A	151317225	T	A	151317225	3	1	642	1	0	0	0	0	1	0	0	0	13272	1812	63	5	1542	5	RFX5	1	151317225	Missense_Mutation	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10	39017883	151317225	97933396	5	34921											
FLG	2312	hgsc.bcm.edu	37	1	152284898	152284898	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr1:152284898G>T	ENST00000368799.1	-	3	2499	c.2464C>A	c.(2464-2466)Cat>Aat	p.H822N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	822	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGCTCATGGTGGGATCCT	0.567									Ichthyosis																																							0													284	272	276					1																	152284898		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2464C>A	chr1.hg19:g.152284898G>T	ENSP00000357789:p.His822Asn		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	4.331	0.060725	0.08339	.	.	ENSG00000143631	ENST00000368799	T	0.04015	3.73	3.3	-1.25	0.09405	.	.	.	.	.	T	0.01353	0.0044	L	0.58428	1.81	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45920	-0.9228	9	0.25106	T	0.35	.	2.5714	0.04796	0.2516:0.0:0.3484:0.3999	.	822	P20930	FILA_HUMAN	N	822	ENSP00000357789:H822N	ENSP00000357789:H822N	H	-	1	0	FLG	150551522	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	1.127000	0.31357	0.134000	0.18681	-0.415000	0.06103	CAT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		T	152284898	G	T	152284898	3	4	642	1	0	0	0	0	1	0	0	0	5924	1348	47	4	9725	4	FLG	1	152284898	Missense_Mutation	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10	967673	152284898	96965723	6	34922											
F5	2153	hgsc.bcm.edu	37	1	169519125	169519125	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr1:169519125C>T	ENST00000367797.3	-	10	1726	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	F5_ENST00000367796.3_Missense_Mutation_p.V509M|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	509	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ATGATGTCCACGTCACTGTAG	0.438																																																0													217	193	201					1																	169519125		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1525G>A	chr1.hg19:g.169519125C>T	ENSP00000356771:p.Val509Met		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	hg19	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096857	0.94197	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98567	-5.0;-5.0	5.71	5.71	0.89125	Cupredoxin (2);	0.124889	0.53938	D	0.000051	D	0.99354	0.9773	H	0.94582	3.555	0.40561	D	0.981212	D	0.89917	1.0	D	0.87578	0.998	D	0.98965	1.0799	9	0.87932	D	0	-6.2486	19.8398	0.96678	0.0:1.0:0.0:0.0	.	509	P12259	FA5_HUMAN	M	509	ENSP00000356771:V509M;ENSP00000356770:V509M	ENSP00000356770:V509M	V	-	1	0	F5	167785749	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	7.451000	0.80668	2.697000	0.92050	0.655000	0.94253	GTG		0.438	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		T	169519125	C	T	169519125	3	4	642	1	0	0	0	0	1	0	0	0	5350	536	19	1	5213	1	F5	1	169519125	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	17234227	169519125	79731496	7	34923											
BAZ2B	29994	hgsc.bcm.edu	37	2	160206448	160206448	+	Missense_Mutation	SNP	T	T	C	rs200214529	byFrequency	TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr2:160206448T>C	ENST00000392783.2	-	28	5129	c.4634A>G	c.(4633-4635)aAt>aGt	p.N1545S	BAZ2B_ENST00000355831.2_Missense_Mutation_p.N1511S|BAZ2B_ENST00000343439.5_Missense_Mutation_p.N1445S|BAZ2B_ENST00000392782.1_Missense_Mutation_p.N1509S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TAACTGGTCATTGGGGAGAGG	0.428													T|||	2	0.000399361	0.0	0.0	5008	,	,		20692	0.002		0.0	False		,,,				2504	0.0															0													159	154	156					2																	160206448		2019	4187	6206	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4634A>G	chr2.hg19:g.160206448T>C	ENSP00000376534:p.Asn1545Ser		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	hg19	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	T	7.084	0.570841	0.13623	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.58060	0.43;0.42;0.43;0.36	6.17	3.83	0.44106	.	0.183181	0.25680	N	0.029005	T	0.40595	0.1123	L	0.41824	1.3	0.26418	N	0.976147	B;B	0.23377	0.081;0.084	B;B	0.20184	0.028;0.021	T	0.21930	-1.0231	10	0.15952	T	0.53	-11.6915	11.3102	0.49360	0.0:0.2045:0.0:0.7955	.	1509;1545	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	S	1509;1545;1511;1445	ENSP00000376533:N1509S;ENSP00000376534:N1545S;ENSP00000348087:N1511S;ENSP00000339670:N1445S	ENSP00000339670:N1445S	N	-	2	0	BAZ2B	159914694	1.000000	0.71417	0.998000	0.56505	0.774000	0.43823	1.563000	0.36364	0.200000	0.20447	-1.139000	0.01908	AAT		0.428	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			C	160206448	T	C	160206448	3	2	642	1	0	0	0	0	1	0	0	0	1332	1493	52	3	1912	3	BAZ2B	2	160206448	Missense_Mutation	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10		160206448	82992925	8	34924											
XIRP2	129446	hgsc.bcm.edu	37	2	168105464	168105464	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr2:168105464C>T	ENST00000409195.1	+	9	7651	c.7562C>T	c.(7561-7563)tCt>tTt	p.S2521F	XIRP2_ENST00000409273.1_Missense_Mutation_p.S2299F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2521F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2346					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTATAAAATCTCATTCATTT	0.348																																																0													95	91	92					2																	168105464		1817	4068	5885	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7562C>T	chr2.hg19:g.168105464C>T	ENSP00000386840:p.Ser2521Phe		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683539	0.68157	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02890	4.12;4.12;4.13	6.07	5.15	0.70609	.	0.303615	0.35349	N	0.003270	T	0.05686	0.0149	M	0.65975	2.015	0.36927	D	0.891702	P;P;P	0.43287	0.702;0.802;0.802	B;B;B	0.36719	0.116;0.231;0.231	T	0.18272	-1.0342	10	0.72032	D	0.01	-15.1299	18.0572	0.89366	0.0:0.8695:0.1305:0.0	.	2346;2346;2299	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	2521;2521;2299	ENSP00000386840:S2521F;ENSP00000295237:S2521F;ENSP00000387255:S2299F	ENSP00000295237:S2521F	S	+	2	0	XIRP2	167813710	0.995000	0.38212	0.990000	0.47175	0.943000	0.58893	3.010000	0.49559	2.884000	0.98904	0.655000	0.94253	TCT		0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		T	168105464	C	T	168105464	3	4	642	1	0	0	0	0	1	0	0	0	17435	913	32	2	7592	2	XIRP2	2	168105464	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	7899016	168105464	75093909	9	34925											
TTN	7273	hgsc.bcm.edu	37	2	179460381	179460381	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr2:179460381C>T	ENST00000591111.1	-	245	53001	c.52777G>A	c.(52777-52779)Gtg>Atg	p.V17593M	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10361M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V10169M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16666M|TTN_ENST00000359218.5_Missense_Mutation_p.V10294M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V19234M|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17593	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATATGTCACTGGGGTCCAT	0.453																																																0													73	67	69					2																	179460381		1902	4127	6029	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52777G>A	chr2.hg19:g.179460381C>T	ENSP00000465570:p.Val17593Met		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.99	2.996350	0.54147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.9	5.9	0.94986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77765	0.4179	M	0.85630	2.765	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79829	-0.1638	9	0.87932	D	0	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	10169;10294;10361;17593	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16666;10169;10361;10294;10167	ENSP00000343764:V16666M;ENSP00000434586:V10169M;ENSP00000340554:V10361M;ENSP00000352154:V10294M	ENSP00000340554:V10361M	V	-	1	0	TTN	179168627	1.000000	0.71417	0.993000	0.49108	0.616000	0.37450	7.770000	0.85390	2.808000	0.96608	0.650000	0.86243	GTG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		T	179460381	C	T	179460381	3	4	642	1	0	0	0	0	1	0	0	0	16740	565	20	2	50551	2	TTN	2	179460381	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	11354917	179460381	63738992	10	34926											
CCDC150	284992	hgsc.bcm.edu	37	2	197576887	197576887	+	Missense_Mutation	SNP	G	G	C			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr2:197576887G>C	ENST00000389175.4	+	16	1849	c.1714G>C	c.(1714-1716)Gaa>Caa	p.E572Q	CCDC150_ENST00000409270.1_5'Flank|CCDC150_ENST00000272831.7_Missense_Mutation_p.E240Q	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	572										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TAAACAGCTAGAAGAACAAGT	0.259																																																0													46	40	42					2																	197576887		1807	4062	5869	SO:0001583	missense	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1714G>C	chr2.hg19:g.197576887G>C	ENSP00000373827:p.Glu572Gln		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	hg19	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.658115	0.29425	.	.	ENSG00000144395	ENST00000272831;ENST00000389175	T	0.44881	0.91	4.56	3.64	0.41730	.	0.347815	0.23865	N	0.043807	T	0.26882	0.0658	L	0.31294	0.92	0.80722	D	1	B;B	0.33318	0.154;0.408	B;B	0.31751	0.135;0.077	T	0.03922	-1.0992	10	0.18710	T	0.47	.	9.6745	0.40032	0.0:0.2311:0.7689:0.0	.	240;572	B4DZ03;Q8NCX0	.;CC150_HUMAN	Q	240;572	ENSP00000373827:E572Q	ENSP00000272831:E240Q	E	+	1	0	CCDC150	197285132	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.097000	0.50251	2.372000	0.80975	0.591000	0.81541	GAA		0.259	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		C	197576887	G	C	197576887	3	2	642	1	0	0	0	0	1	0	0	0	2787	943	33	4	1776	4	CCDC150	2	197576887	Missense_Mutation	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10	18116506	197576887	45622486	11	34927											
SCG2	7857	hgsc.bcm.edu	37	2	224463934	224463934	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr2:224463934A>G	ENST00000305409.2	-	2	299	c.67T>C	c.(67-69)Tct>Cct	p.S23P		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCAGCCCCAGAGATGAGGAAA	0.423																																																0													64	70	68					2																	224463934		2203	4299	6502	SO:0001583	missense	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.67T>C	chr2.hg19:g.224463934A>G	ENSP00000304133:p.Ser23Pro		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	hg19	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	A	7.472	0.646956	0.14516	.	.	ENSG00000171951	ENST00000305409;ENST00000450330;ENST00000421386;ENST00000433889	T;T;T	0.48522	2.64;0.81;0.82	5.59	4.4	0.53042	.	0.593410	0.18763	N	0.131840	T	0.29783	0.0744	N	0.12182	0.205	0.28756	N	0.901182	B	0.06786	0.001	B	0.06405	0.002	T	0.14811	-1.0459	10	0.32370	T	0.25	.	11.9761	0.53091	0.9309:0.0:0.0691:0.0	.	23	P13521	SCG2_HUMAN	P	23	ENSP00000304133:S23P;ENSP00000394702:S23P;ENSP00000415468:S23P	ENSP00000304133:S23P	S	-	1	0	SCG2	224172178	0.728000	0.28080	0.064000	0.19789	0.246000	0.25737	2.472000	0.45136	1.008000	0.39264	0.528000	0.53228	TCT		0.423	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		G	224463934	A	G	224463934	3	3	642	1	0	0	0	0	1	0	0	0	13897	304	11	3	1790	3	SCG2	2	224463934	Missense_Mutation	SNP	A	TCGA-F9-A7VF-01A-11D-A33Q-10	26887047	224463934	18735439	12	34928											
IL17RC	84818	hgsc.bcm.edu	37	3	9962215	9962215	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr3:9962215G>A	ENST00000295981.3	+	6	937	c.719G>A	c.(718-720)aGt>aAt	p.S240N	IL17RC_ENST00000383812.4_Missense_Mutation_p.S169N|IL17RC_ENST00000455057.1_Missense_Mutation_p.S169N|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000416074.2_Missense_Mutation_p.S40N|IL17RC_ENST00000403601.3_Missense_Mutation_p.S169N|IL17RC_ENST00000413608.1_Missense_Mutation_p.S169N|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	240					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCCCTAGGGAGTGAGGTACGA	0.597																																																0													76	64	68					3																	9962215		2203	4299	6502	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.719G>A	chr3.hg19:g.9962215G>A	ENSP00000295981:p.Ser240Asn		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	hg19	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101637	0.20632	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	5.5	2.71	0.32032	.	0.731779	0.12494	N	0.463996	T	0.09949	0.0244	L	0.29908	0.895	0.19300	N	0.999978	B;P;B;B;B;B;B;B;P	0.36315	0.435;0.547;0.148;0.148;0.231;0.231;0.231;0.255;0.547	B;B;B;B;B;B;B;B;B	0.33121	0.08;0.076;0.018;0.018;0.048;0.048;0.056;0.071;0.158	T	0.20338	-1.0278	10	0.49607	T	0.09	-1.0928	8.8918	0.35439	0.1168:0.5055:0.3777:0.0	.	169;40;169;169;169;169;169;240;169	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	N	169;144;240;144;169;40;169;169	ENSP00000373323:S169N;ENSP00000414609:S144N;ENSP00000295981:S240N;ENSP00000401128:S144N;ENSP00000384969:S169N;ENSP00000395315:S40N;ENSP00000407894:S169N;ENSP00000396064:S169N	ENSP00000295981:S240N	S	+	2	0	IL17RC	9937215	0.721000	0.28007	0.812000	0.32479	0.594000	0.36715	0.413000	0.21148	0.810000	0.34279	0.563000	0.77884	AGT		0.597	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		A	9962215	G	A	9962215	3	1	642	1	0	0	0	0	1	0	0	0	7643	1029	36	2	741	2	IL17RC	3	9962215	Missense_Mutation	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10		9962215	188060215	13	34929											
ATP2B2	491	hgsc.bcm.edu	37	3	10442753	10442753	+	Missense_Mutation	SNP	A	A	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr3:10442753A>T	ENST00000352432.4	-	4	734	c.665T>A	c.(664-666)cTc>cAc	p.L222H	ATP2B2_ENST00000360273.2_Missense_Mutation_p.L222H|ATP2B2_ENST00000343816.4_Missense_Mutation_p.L222H|ATP2B2_ENST00000397077.1_Missense_Mutation_p.L222H|ATP2B2_ENST00000383800.4_Missense_Mutation_p.L222H			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	222					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCGGCAGGGAGGAGGTCACC	0.567																																					Ovarian(125;1619 1709 15675 19819 38835)											0													70	66	67					3																	10442753		2203	4300	6503	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.665T>A	chr3.hg19:g.10442753A>T	ENSP00000324172:p.Leu222His		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	hg19	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495893	0.85069	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.6	5.6	0.85130	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.97158	0.9836	10	0.87932	D	0	-32.0976	15.7913	0.78367	1.0:0.0:0.0:0.0	.	222;234;222	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	H	222;222;222;222;222;188;109;222	ENSP00000324172:L222H;ENSP00000373311:L222H;ENSP00000380267:L222H;ENSP00000353414:L222H;ENSP00000344677:L222H;ENSP00000414854:L109H	ENSP00000342954:L222H	L	-	2	0	ATP2B2	10417753	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.313000	0.96297	2.124000	0.65301	0.528000	0.53228	CTC		0.567	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		T	10442753	A	T	10442753	3	4	642	1	0	0	0	0	1	0	0	0	1140	304	11	5	3142	5	ATP2B2	3	10442753	Missense_Mutation	SNP	A	TCGA-F9-A7VF-01A-11D-A33Q-10	480538	10442753	187579677	14	34930											
ATG7	10533	hgsc.bcm.edu	37	3	11374553	11374553	+	Missense_Mutation	SNP	T	T	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr3:11374553T>A	ENST00000354449.3	+	9	900	c.875T>A	c.(874-876)aTg>aAg	p.M292K	ATG7_ENST00000446450.2_Missense_Mutation_p.M253K|ATG7_ENST00000354956.5_Missense_Mutation_p.M292K	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	292					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTTCCAGAAATGGCATTTAGC	0.433																																																0													97	86	89					3																	11374553		2203	4300	6503	SO:0001583	missense	10533			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.875T>A	chr3.hg19:g.11374553T>A	ENSP00000346437:p.Met292Lys		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	hg19	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.222160	0.39300	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.39787	1.07;1.07;1.06	5.46	5.46	0.80206	.	0.482455	0.22908	N	0.054170	T	0.22513	0.0543	N	0.16903	0.455	0.31387	N	0.678283	B;B;B	0.15930	0.015;0.012;0.007	B;B;B	0.20577	0.008;0.03;0.008	T	0.24476	-1.0159	10	0.06236	T	0.91	-9.8661	8.0007	0.30295	0.0:0.0725:0.1379:0.7896	.	253;292;292	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	K	253;292;292	ENSP00000412580:M253K;ENSP00000347042:M292K;ENSP00000346437:M292K	ENSP00000346437:M292K	M	+	2	0	ATG7	11349553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.115000	0.50391	2.063000	0.61619	0.482000	0.46254	ATG		0.433	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		A	11374553	T	A	11374553	3	1	642	1	0	0	0	0	1	0	0	0	1101	1464	51	5	905	5	ATG7	3	11374553	Missense_Mutation	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10	931800	11374553	186647877	15	34931											
RBM15B	29890	hgsc.bcm.edu	37	3	51431071	51431071	+	Silent	SNP	C	C	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr3:51431071C>A	ENST00000323686.4	+	1	2341	c.2241C>A	c.(2239-2241)atC>atA	p.I747I		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	747	Interaction with Epstein-Barr virus BMLF1.|SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGGGGTGATCAGCAGTCTCC	0.567																																																0													67	73	71					3																	51431071		2203	4300	6503	SO:0001819	synonymous_variant	29890			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2241C>A	chr3.hg19:g.51431071C>A			A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	hg19	CCDS33764.1																																																																																				0.567	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		A	51431071	C	A	51431071	2	1	642	1	0	0	0	0	0	0	0	1	13123	816	29	4		4	RBM15B	3	51431071	Silent	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	40056518	51431071	146591359	16	34932											
STAB1	23166	hgsc.bcm.edu	37	3	52555381	52555381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr3:52555381delC	ENST00000321725.6	+	56	5989	c.5913delC	c.(5911-5913)tgcfs	p.C1971fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1971	Laminin EGF-like 2. {ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCCAGCTTGCCCTGGCGGCC	0.637																																																0													98	95	96					3																	52555381		2203	4300	6503	SO:0001589	frameshift_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5913delC	chr3.hg19:g.52555381delC	ENSP00000312946:p.Cys1971fs		A7E297|Q8IUH0|Q8IUH1|Q93072	Frame_Shift_Del	DEL	ENST00000321725.6	hg19	CCDS33768.1																																																																																				0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		-	52555381	C	-	52555381	7	5	642	1	0	1	0	1	0	0	0	0	15242	747	26	0	6135	0	STAB1	3	52555381	Frame_Shift_Del	DEL	C	TCGA-F9-A7VF-01A-11D-A33Q-10	1124310	52555381	145467049	17	34933											
GRAMD1C	54762	hgsc.bcm.edu	37	3	113659165	113659165	+	Silent	SNP	C	C	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr3:113659165C>G	ENST00000358160.4	+	17	2373	c.1881C>G	c.(1879-1881)ctC>ctG	p.L627L	GRAMD1C_ENST00000440446.2_Silent_p.L422L|GRAMD1C_ENST00000472026.1_Silent_p.L460L|GRAMD1C_ENST00000452134.2_Silent_p.L356L|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	627						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGGGAGTGCTCCGAGACTCCA	0.413																																																0													133	134	134					3																	113659165		2203	4300	6503	SO:0001819	synonymous_variant	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1881C>G	chr3.hg19:g.113659165C>G			A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	hg19	CCDS33826.1																																																																																				0.413	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		G	113659165	C	G	113659165	2	3	642	1	0	0	0	0	0	0	0	1	6751	842	30	4		4	GRAMD1C	3	113659165	Silent	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	61103784	113659165	84363265	18	34934											
DVL3	1857	hgsc.bcm.edu	37	3	183888399	183888400	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr3:183888399_183888400insC	ENST00000313143.3	+	15	2255_2256	c.2007_2008insC	c.(2008-2010)cccfs	p.P670fs	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Frame_Shift_Ins_p.P653fs	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	670					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TGCTGATGATGCCCCCGCCGCC	0.723																																																0																																										SO:0001589	frameshift_variant	1857			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.2012dupC	chr3.hg19:g.183888404_183888404dupC	ENSP00000316054:p.Pro670fs		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Frame_Shift_Ins	INS	ENST00000313143.3	hg19	CCDS3253.1																																																																																				0.723	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		C	183888400	-	C	183888399	7	5	642	1	0	1	1	0	0	0	0	0	4839	1319	46	0	2065	0	DVL3	3	183888399	Frame_Shift_Ins	INS	-	TCGA-F9-A7VF-01A-11D-A33Q-10	70229234	183888399	14134031	19	34935											
FAM43A	131583	hgsc.bcm.edu	37	3	194408012	194408012	+	Missense_Mutation	SNP	T	T	C			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr3:194408012T>C	ENST00000329759.4	+	1	1391	c.457T>C	c.(457-459)Ttc>Ctc	p.F153L		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	153										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GCCCAAGGTCTTCGCCTGGGT	0.706																																																0													10	8	8					3																	194408012		2103	4161	6264	SO:0001583	missense	131583			AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.457T>C	chr3.hg19:g.194408012T>C	ENSP00000371397:p.Phe153Leu		A3KME2|Q8IXP4|Q8WZ07	Missense_Mutation	SNP	ENST00000329759.4	hg19	CCDS33923.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.881997	0.91740	.	.	ENSG00000185112	ENST00000329759	T	0.74421	-0.84	5.07	5.07	0.68467	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.82568	0.5065	L	0.53671	1.685	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.83631	0.0145	10	0.54805	T	0.06	-20.3017	14.0316	0.64619	0.0:0.0:0.0:1.0	.	153	Q8N2R8	FA43A_HUMAN	L	153	ENSP00000371397:F153L	ENSP00000371397:F153L	F	+	1	0	FAM43A	195889301	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.573000	0.82421	1.913000	0.55393	0.379000	0.24179	TTC		0.706	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690		C	194408012	T	C	194408012	3	2	642	1	0	0	0	0	1	0	0	0	5564	1609	56	3	459	3	FAM43A	3	194408012	Missense_Mutation	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10	10519613	194408012	3614418	20	34936											
MAEA	10296	hgsc.bcm.edu	37	4	1305935	1305935	+	Missense_Mutation	SNP	G	G	C	rs146286709		TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr4:1305935G>C	ENST00000303400.4	+	2	301	c.238G>C	c.(238-240)Gtc>Ctc	p.V80L	MAEA_ENST00000505839.1_Missense_Mutation_p.V32L|MAEA_ENST00000510794.1_Missense_Mutation_p.V79L|MAEA_ENST00000505177.2_Missense_Mutation_p.V80L|MAEA_ENST00000264750.6_Missense_Mutation_p.V80L|MAEA_ENST00000514708.1_Missense_Mutation_p.V80L|MAEA_ENST00000452175.2_Missense_Mutation_p.V69L	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	80	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	GAAGCTCAGCGTCCTCAAGAG	0.627																																																0													35	38	37					4																	1305935		2203	4300	6503	SO:0001583	missense	10296			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"GID complex subunit 9, FYV10 homolog (S. cerevisiae)"	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.238G>C	chr4.hg19:g.1305935G>C	ENSP00000302830:p.Val80Leu		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	hg19	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836364	0.71373	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708;ENST00000510794;ENST00000512842;ENST00000505839	T;T;T;T;T;T;T;T	0.47177	0.94;0.93;0.88;0.92;0.85;0.88;0.91;0.93	5.94	5.09	0.68999	.	0.054564	0.64402	D	0.000001	T	0.46908	0.1417	M	0.64404	1.975	0.38491	D	0.947969	B;B;B;B;B;B	0.27882	0.074;0.171;0.07;0.192;0.07;0.002	B;B;B;B;B;B	0.29077	0.057;0.081;0.098;0.094;0.076;0.012	T	0.43861	-0.9365	10	0.27785	T	0.31	-17.4029	15.5456	0.76097	0.0673:0.0:0.9327:0.0	.	79;80;80;80;80;80	B4DVN3;E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	L	80;80;80;80;80;59;80;69;80;79;32;32	ENSP00000302830:V80L;ENSP00000422215:V80L;ENSP00000421644:V80L;ENSP00000264750:V80L;ENSP00000426903:V80L;ENSP00000411415:V69L;ENSP00000427512:V80L;ENSP00000426807:V79L	ENSP00000264750:V80L	V	+	1	0	MAEA	1295935	1.000000	0.71417	0.927000	0.36925	0.977000	0.68977	7.630000	0.83225	2.815000	0.96918	0.650000	0.86243	GTC		0.627	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		C	1305935	G	C	1305935	3	2	642	1	0	0	0	0	1	0	0	0	9155	1145	40	4	244	4	MAEA	4	1305935	Missense_Mutation	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10		1305935	189848341	21	34937											
SH3TC1	54436	hgsc.bcm.edu	37	4	8229479	8229479	+	Silent	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr4:8229479C>T	ENST00000245105.3	+	12	2125	c.2058C>T	c.(2056-2058)ccC>ccT	p.P686P	SH3TC1_ENST00000539824.1_Silent_p.P610P	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	686										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGCCCTGCCCTTCCTAGAGC	0.692																																					NSCLC(145;2298 2623 35616 37297)											0													15	19	18					4																	8229479		2155	4213	6368	SO:0001819	synonymous_variant	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2058C>T	chr4.hg19:g.8229479C>T			Q4W5G5	Silent	SNP	ENST00000245105.3	hg19	CCDS3399.1																																																																																				0.692	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		T	8229479	C	T	8229479	2	4	642	1	0	0	0	0	0	0	0	1	14267	668	24	2		2	SH3TC1	4	8229479	Silent	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	6923544	8229479	182924797	22	34938											
HS3ST1	9957	hgsc.bcm.edu	37	4	11401470	11401470	+	Missense_Mutation	SNP	A	A	T	rs183663781		TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr4:11401470A>T	ENST00000002596.5	-	2	1334	c.160T>A	c.(160-162)Ttg>Atg	p.L54M		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	54					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTCTGCGGCAACTGCTGGGCA	0.701																																																0													31	28	29					4																	11401470		2202	4298	6500	SO:0001583	missense	9957			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.160T>A	chr4.hg19:g.11401470A>T	ENSP00000002596:p.Leu54Met		B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	hg19	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132217	0.37630	.	.	ENSG00000002587	ENST00000002596;ENST00000514690;ENST00000510712	T;T;T	0.59772	0.24;0.24;0.24	5.57	4.73	0.59995	.	0.328799	0.28754	N	0.014246	T	0.80093	0.4560	H	0.94886	3.595	0.50313	D	0.999861	D	0.67145	0.996	D	0.71414	0.973	D	0.83531	0.0091	10	0.72032	D	0.01	.	9.763	0.40543	0.1558:0.0:0.8442:0.0	.	54	O14792	HS3S1_HUMAN	M	54	ENSP00000002596:L54M;ENSP00000425673:L54M;ENSP00000422629:L54M	ENSP00000002596:L54M	L	-	1	2	HS3ST1	11010568	1.000000	0.71417	0.997000	0.53966	0.117000	0.20001	4.210000	0.58500	1.371000	0.46172	-0.132000	0.14878	TTG		0.701	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		T	11401470	A	T	11401470	3	4	642	1	0	0	0	0	1	0	0	0	7365	40	2	5	767	5	HS3ST1	4	11401470	Missense_Mutation	SNP	A	TCGA-F9-A7VF-01A-11D-A33Q-10	3171991	11401470	179752806	23	34939											
COQ2	27235	hgsc.bcm.edu	37	4	84185397	84185397	+	Silent	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr4:84185397C>T	ENST00000311469.4	-	7	1220	c.1221G>A	c.(1219-1221)aaG>aaA	p.K407K	COQ2_ENST00000439031.2_Silent_p.K370K	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	357					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				TTTTGTCTGTCTTCTTTTCTT	0.284																																																0													57	51	53					4																	84185397		1776	4061	5837	SO:0001819	synonymous_variant	27235				CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"4-hydroxybenzoate polyprenyltransferase"	609825	"coenzyme Q2 homolog, prenyltransferase (yeast)"			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.1221G>A	chr4.hg19:g.84185397C>T			O95331|Q1JQ78|Q684R2	Silent	SNP	ENST00000311469.4	hg19	CCDS47090.2																																																																																				0.284	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697		T	84185397	C	T	84185397	2	4	642	1	0	0	0	0	0	0	0	1	3747	912	32	2		2	COQ2	4	84185397	Silent	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	72783927	84185397	106968879	24	34940											
PCDH18	54510	hgsc.bcm.edu	37	4	138452939	138452940	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr4:138452939_138452940insCT	ENST00000344876.4	-	1	689_690	c.303_304insAG	c.(301-306)aacttgfs	p.L102fs	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Frame_Shift_Ins_p.L102fs|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	102	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GAACAGTTCAAGTTTTTCTGGC	0.426																																																0																																										SO:0001589	frameshift_variant	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.303_304insAG	chr4.hg19:g.138452939_138452940insCT	ENSP00000355082:p.Leu102fs		A8K7K3|B7ZKT1|Q52LS2	Frame_Shift_Ins	INS	ENST00000344876.4	hg19	CCDS34064.1																																																																																				0.426	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		CT	138452940	-	CT	138452939	7	5	642	1	0	1	1	0	0	0	0	0	11515	69	3	0	3119	0	PCDH18	4	138452939	Frame_Shift_Ins	INS	-	TCGA-F9-A7VF-01A-11D-A33Q-10	54267542	138452939	52701337	25	34941	259	2									
PCDH18	54510	hgsc.bcm.edu	37	4	138452946	138452946	+	Silent	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr4:138452946C>T	ENST00000344876.4	-	1	683	c.297G>A	c.(295-297)caG>caA	p.Q99Q	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.Q99Q|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCAAGTTTTTCTGGCACAGTT	0.428																																																0													168	165	166					4																	138452946		2203	4300	6503	SO:0001819	synonymous_variant	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.297G>A	chr4.hg19:g.138452946C>T			A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	hg19	CCDS34064.1																																																																																				0.428	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		T	138452946	C	T	138452946	2	4	642	1	0	0	0	0	0	0	0	1	11515	912	32	2		2	PCDH18	4	138452946	Silent	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	7	138452946	52701330	26	34942	259	2									
PPID	5481	hgsc.bcm.edu	37	4	159634384	159634384	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr4:159634384C>A	ENST00000307720.3	-	7	888	c.781G>T	c.(781-783)Gag>Tag	p.E261*		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	261	Interaction with HSP90AB1. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TCTGCTGTCTCAATAACAGCC	0.398																																																0													127	116	120					4																	159634384		2203	4300	6503	SO:0001587	stop_gained	5481				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"Tetratricopeptide (TTC) repeat domain containing"	9257	protein-coding gene	gene with protein product	"cyclophilin 40"	601753	"peptidylprolyl isomerase D (cyclophilin D)"			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.781G>T	chr4.hg19:g.159634384C>A	ENSP00000303754:p.Glu261*		B2R9V2	Nonsense_Mutation	SNP	ENST00000307720.3	hg19	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650373	0.87958	.	.	ENSG00000171497	ENST00000307720	.	.	.	5.44	1.71	0.24356	.	0.331752	0.20962	N	0.082560	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-16.4158	8.7939	0.34868	0.0:0.6398:0.2319:0.1282	.	.	.	.	X	261	.	ENSP00000303754:E261X	E	-	1	0	PPID	159853834	0.882000	0.30256	0.005000	0.12908	0.160000	0.22226	3.156000	0.50708	0.162000	0.19483	0.650000	0.86243	GAG		0.398	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038		A	159634384	C	A	159634384	4	1	642	1	0	0	0	0	0	1	0	0	12326	835	29	4	347	4	PPID	4	159634384	Nonsense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	21181438	159634384	31519892	27	34943											
PKD2L2	27039	hgsc.bcm.edu	37	5	137271569	137271569	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr5:137271569C>G	ENST00000508883.1	+	13	1781	c.1755C>G	c.(1753-1755)taC>taG	p.Y585*	PKD2L2_ENST00000290431.5_Nonsense_Mutation_p.Y585*|PKD2L2_ENST00000502810.1_Nonsense_Mutation_p.Y563*|PKD2L2_ENST00000508638.1_Nonsense_Mutation_p.Y484*|PKD2L2_ENST00000350250.4_Nonsense_Mutation_p.Y551*			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	585					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGATGACTACCAGCCTGTCA	0.388																																																0													94	93	93					5																	137271569		1845	4093	5938	SO:0001587	stop_gained	27039			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1755C>G	chr5.hg19:g.137271569C>G	ENSP00000424725:p.Tyr585*		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Nonsense_Mutation	SNP	ENST00000508883.1	hg19		.	.	.	.	.	.	.	.	.	.	C	22.5	4.302549	0.81136	.	.	ENSG00000078795	ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	.	.	.	5.43	1.56	0.23342	.	0.252794	0.27971	N	0.017101	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-5.6504	8.3066	0.32047	0.0:0.6543:0.0:0.3457	.	.	.	.	X	551;484;563;585;585	.	ENSP00000290431:Y585X	Y	+	3	2	PKD2L2	137299468	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	0.387000	0.20718	0.347000	0.23924	0.655000	0.94253	TAC		0.388	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		G	137271569	C	G	137271569	4	3	642	1	0	0	0	0	0	1	0	0	11970	518	18	4	1805	4	PKD2L2	5	137271569	Nonsense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10		137271569	43643691	28	34944											
F12	2161	hgsc.bcm.edu	37	5	176831557	176831557	+	Missense_Mutation	SNP	C	C	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr5:176831557C>A	ENST00000253496.3	-	8	791	c.743G>T	c.(742-744)cGg>cTg	p.R248L	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	248	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	AGTCACGTTCCGGTAGGTGGC	0.736									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													11	14	13					5																	176831557		2173	4280	6453	SO:0001583	missense	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.743G>T	chr5.hg19:g.176831557C>A	ENSP00000253496:p.Arg248Leu	1934	P78339	Missense_Mutation	SNP	ENST00000253496.3	hg19	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669323	0.29604	.	.	ENSG00000131187	ENST00000253496	T	0.66995	-0.24	5.31	1.21	0.21127	Kringle (4);Kringle-like fold (1);	1.106110	0.07016	N	0.825978	T	0.58032	0.2094	L	0.48260	1.515	0.18873	N	0.999988	B	0.24258	0.1	B	0.29785	0.107	T	0.51188	-0.8737	10	0.48119	T	0.1	.	3.2323	0.06752	0.1851:0.5144:0.0:0.3005	.	248	P00748	FA12_HUMAN	L	248	ENSP00000253496:R248L	ENSP00000253496:R248L	R	-	2	0	F12	176764163	0.000000	0.05858	0.502000	0.27614	0.140000	0.21249	0.283000	0.18846	0.366000	0.24427	0.561000	0.74099	CGG		0.736	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			A	176831557	C	A	176831557	3	1	642	1	0	0	0	0	1	0	0	0	5341	652	23	4	1132	4	F12	5	176831557	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	39559988	176831557	4083703	29	34945											
ITPR3	3710	hgsc.bcm.edu	37	6	33638181	33638181	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr6:33638181G>T	ENST00000374316.5	+	20	3329	c.2269G>T	c.(2269-2271)Gtg>Ttg	p.V757L	ITPR3_ENST00000605930.1_Missense_Mutation_p.V757L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	757					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCAGCTGGGCGTGGACCTGAT	0.612																																																0													137	123	128					6																	33638181		2203	4300	6503	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2269G>T	chr6.hg19:g.33638181G>T	ENSP00000363435:p.Val757Leu		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297216	0.81025	.	.	ENSG00000096433	ENST00000374316	D	0.91577	-2.87	4.81	3.94	0.45596	.	0.073011	0.56097	D	0.000033	D	0.87629	0.6225	M	0.65975	2.015	0.42224	D	0.991862	P	0.47604	0.898	P	0.47645	0.553	D	0.86865	0.2032	10	0.46703	T	0.11	-20.5941	12.6317	0.56661	0.0805:0.0:0.9195:0.0	.	757	Q14573	ITPR3_HUMAN	L	757	ENSP00000363435:V757L	ENSP00000363435:V757L	V	+	1	0	ITPR3	33746159	1.000000	0.71417	0.847000	0.33407	0.987000	0.75469	4.668000	0.61568	1.012000	0.39366	0.563000	0.77884	GTG		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		T	33638181	G	T	33638181	3	4	642	1	0	0	0	0	1	0	0	0	7924	1145	40	4	2343	4	ITPR3	6	33638181	Missense_Mutation	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10		33638181	137476886	30	34946											
ACTB	60	hgsc.bcm.edu	37	7	5567773	5567773	+	Silent	SNP	G	G	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr7:5567773G>A	ENST00000331789.5	-	5	1037	c.846C>T	c.(844-846)atC>atT	p.I282I	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	282					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CACACTTCATGATGGAGTTGA	0.567																																																0													150	146	148					7																	5567773		2203	4300	6503	SO:0001819	synonymous_variant	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.846C>T	chr7.hg19:g.5567773G>A			A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	hg19	CCDS5341.1																																																																																				0.567	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		A	5567773	G	A	5567773	2	1	642	1	0	0	0	0	0	0	0	1	193	1280	45	2		2	ACTB	7	5567773	Silent	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10		5567773	153570890	31	34947											
C7orf63	79846	hgsc.bcm.edu	37	7	89903320	89903320	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr7:89903320A>T	ENST00000389297.4	+	9	1131	c.880A>T	c.(880-882)Aaa>Taa	p.K294*	C7orf63_ENST00000497910.1_Nonsense_Mutation_p.K276*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.K294*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		294										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GGAAGTATTTAAAAATCTGTT	0.294																																																0													56	53	54					7																	89903320		1801	4059	5860	SO:0001587	stop_gained	79846																														ENST00000389297.4:c.880A>T	chr7.hg19:g.89903320A>T	ENSP00000373948:p.Lys294*		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Nonsense_Mutation	SNP	ENST00000389297.4	hg19	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859359	0.71834	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	.	.	.	5.33	5.33	0.75918	.	0.542673	0.17704	N	0.164814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0252	8.6919	0.34271	0.909:0.0:0.091:0.0	.	.	.	.	X	294;294;276;234	.	ENSP00000321753:K294X	K	+	1	0	C7orf63	89741256	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.473000	0.35387	2.234000	0.73211	0.533000	0.62120	AAA		0.294	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			T	89903320	A	T	89903320	4	4	642	1	0	0	0	0	0	1	0	0	2411	363	13	5	914	5	C7orf63	7	89903320	Nonsense_Mutation	SNP	A	TCGA-F9-A7VF-01A-11D-A33Q-10	84335547	89903320	69235343	32	34948											
CCDC132	55610	hgsc.bcm.edu	37	7	92905642	92905642	+	Intron	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr7:92905642C>T	ENST00000305866.5	+	12	1070				CCDC132_ENST00000544910.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.H323Y|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_Intron|CCDC132_ENST00000541136.1_Intron	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTACTATTCATATATCTCT	0.284																																																0													77	77	77					7																	92905642		2203	4300	6503	SO:0001627	intron_variant	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.942+25C>T	chr7.hg19:g.92905642C>T			B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	hg19	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	5.007	0.187013	0.09547	.	.	ENSG00000004766	ENST00000251739	.	.	.	4.54	-1.73	0.08081	.	.	.	.	.	T	0.36193	0.0958	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37244	-0.9714	7	0.87932	D	0	.	10.8309	0.46659	0.0:0.2665:0.0:0.7335	.	323	Q96JG6-2	.	Y	323	.	ENSP00000251739:H323Y	H	+	1	0	CCDC132	92743578	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.406000	0.07187	-0.297000	0.08934	-0.140000	0.14226	CAT		0.284	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		T	92905642	C	T	92905642	1	4	642	0	1	0	0	0	0	0	0	0	2769	826	29	2		2	CCDC132	7	92905642	Intron	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	3002322	92905642	66233021	33	34949											
TRIM56	81844	hgsc.bcm.edu	37	7	100732116	100732116	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr7:100732116C>T	ENST00000306085.6	+	3	1820	c.1523C>T	c.(1522-1524)cCc>cTc	p.P508L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	508					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCGGTCCCCCCGGATCACC	0.647																																					Ovarian(89;1092 1379 22756 38989 39611)											0													59	68	65					7																	100732116		2003	4161	6164	SO:0001583	missense	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1523C>T	chr7.hg19:g.100732116C>T	ENSP00000305161:p.Pro508Leu		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	hg19	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319380	0.41096	.	.	ENSG00000169871	ENST00000306085	T	0.53206	0.63	3.88	3.88	0.44766	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.49660	0.1570	N	0.19112	0.55	0.40985	D	0.984807	D	0.89917	1.0	D	0.80764	0.994	T	0.40440	-0.9563	9	0.29301	T	0.29	.	11.6346	0.51196	0.0:1.0:0.0:0.0	.	508	Q9BRZ2	TRI56_HUMAN	L	508	ENSP00000305161:P508L	ENSP00000305161:P508L	P	+	2	0	TRIM56	100518836	0.745000	0.28261	0.514000	0.27761	0.284000	0.27059	4.092000	0.57707	2.449000	0.82847	0.591000	0.81541	CCC		0.647	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		T	100732116	C	T	100732116	3	4	642	1	0	0	0	0	1	0	0	0	16535	623	22	2	1525	2	TRIM56	7	100732116	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	7826474	100732116	58406547	34	34950											
CHRM2	1129	hgsc.bcm.edu	37	7	136700128	136700128	+	Silent	SNP	G	G	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr7:136700128G>A	ENST00000445907.2	+	3	1044	c.516G>A	c.(514-516)gaG>gaA	p.E172E	hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Silent_p.E172E|CHRM2_ENST00000397608.3_Silent_p.E172E|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Silent_p.E172E|CHRM2_ENST00000401861.1_Silent_p.E172E|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.E172E|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	172					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GAACTGTGGAGGATGGGGAGT	0.493																																																0													114	107	109					7																	136700128		2203	4300	6503	SO:0001819	synonymous_variant	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.516G>A	chr7.hg19:g.136700128G>A			Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	hg19	CCDS5843.1																																																																																				0.493	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			A	136700128	G	A	136700128	2	1	642	1	0	0	0	0	0	0	0	1	3379	991	35	2		2	CHRM2	7	136700128	Silent	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10	35968012	136700128	22438535	35	34951											
PLEC	5339	hgsc.bcm.edu	37	8	144990855	144990855	+	Missense_Mutation	SNP	C	C	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr8:144990855C>A	ENST00000322810.4	-	32	13714	c.13545G>T	c.(13543-13545)tgG>tgT	p.W4515C	PLEC_ENST00000527096.1_Missense_Mutation_p.W4401C|PLEC_ENST00000354589.3_Missense_Mutation_p.W4378C|PLEC_ENST00000356346.3_Missense_Mutation_p.W4364C|PLEC_ENST00000436759.2_Missense_Mutation_p.W4405C|PLEC_ENST00000398774.2_Missense_Mutation_p.W4346C|PLEC_ENST00000357649.2_Missense_Mutation_p.W4382C|PLEC_ENST00000345136.3_Missense_Mutation_p.W4378C|PLEC_ENST00000354958.2_Missense_Mutation_p.W4356C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4515	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTAGTAGAGCCAGCCCTTCT	0.687																																																0													28	32	31					8																	144990855		2033	4179	6212	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13545G>T	chr8.hg19:g.144990855C>A	ENSP00000323856:p.Trp4515Cys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854233	0.32791	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.19	5.19	0.71726	.	0.000000	0.64402	U	0.000007	T	0.75606	0.3872	L	0.41492	1.28	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;P;D;D;D;D	0.66084	0.941;0.941;0.941;0.875;0.941;0.941;0.941;0.941	T	0.77797	-0.2453	10	0.87932	D	0	.	18.5216	0.90954	0.0:1.0:0.0:0.0	.	4405;4364;4356;4515;4346;4378;4382;4378	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	4378;4382;4378;4346;4515;4356;4364;4405;4401	ENSP00000344848:W4378C;ENSP00000350277:W4382C;ENSP00000346602:W4378C;ENSP00000381756:W4346C;ENSP00000323856:W4515C;ENSP00000347044:W4356C;ENSP00000348702:W4364C;ENSP00000388180:W4405C;ENSP00000434583:W4401C	ENSP00000323856:W4515C	W	-	3	0	PLEC	145062843	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.593000	0.82686	2.693000	0.91896	0.643000	0.83706	TGG		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		A	144990855	C	A	144990855	3	1	642	1	0	0	0	0	1	0	0	0	12054	740	26	4	513	4	PLEC	8	144990855	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10		144990855	1373167	36	34952											
GDA	9615	hgsc.bcm.edu	37	9	74828909	74828909	+	Splice_Site	SNP	T	T	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr9:74828909T>A	ENST00000358399.3	+	5	671		c.e5+2		GDA_ENST00000545168.1_Splice_Site|GDA_ENST00000477618.1_Splice_Site|GDA_ENST00000376986.1_Splice_Site|GDA_ENST00000376989.3_Splice_Site|GDA_ENST00000238018.4_Splice_Site	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase						guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AACTGAGAGGTAAAAGGCCCA	0.438																																																0													106	100	102					9																	74828909		2203	4300	6503	SO:0001630	splice_region_variant	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.578+2T>A	chr9.hg19:g.74828909T>A			B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Splice_Site	SNP	ENST00000358399.3	hg19	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.296939	0.40594	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5087	0.75764	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GDA	74018729	1.000000	0.71417	0.991000	0.47740	0.262000	0.26303	5.420000	0.66441	2.150000	0.67090	0.482000	0.46254	.		0.438	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1		Intron	A	74828909	T	A	74828909	5	1	642	1	0	0	0	0	0	0	1	0	6308	1652	57	5	598	5	GDA	9	74828909	Splice_Site	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10		74828909	66384522	37	34953											
PCSK5	5125	hgsc.bcm.edu	37	9	78710821	78710822	+	Missense_Mutation	DNP	GG	GG	CA			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr9:78710821_78710822GG>CA	ENST00000545128.1	+	8	1448_1449	c.910_911GG>CA	c.(910-912)GGc>CAc	p.G304H	PCSK5_ENST00000376767.3_Missense_Mutation_p.G304H|PCSK5_ENST00000376752.4_Missense_Mutation_p.G304H	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	304	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAGAGGCCTCGGCTCTGTGTTT	0.495																																																0																																										SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	Exception_encountered	chr9.hg19:g.78710821_78710822delinsCA	ENSP00000446280:p.Gly304His		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	hg19	CCDS55320.1																																																																																				0.495	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				CA	78710822	GG	CA	78710821	3	2	642	1	0	0	0	0	1	0	0	0	11605	1116	39	4	940	4	PCSK5	9	78710821	Missense_Mutation	DNP	GG	TCGA-F9-A7VF-01A-11D-A33Q-10	3881912	78710821	62502610	38	34954											
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123216128	123216128	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr9:123216128C>T	ENST00000349780.4	-	21	2578	c.2399G>A	c.(2398-2400)cGg>cAg	p.R800Q	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R768Q|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R800Q|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R800Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	800					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAGCAGTTCCCGTACCACTTT	0.468																																																0													68	64	65					9																	123216128		2202	4295	6497	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2399G>A	chr9.hg19:g.123216128C>T	ENSP00000343818:p.Arg800Gln		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	hg19	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	5.025	0.190284	0.09547	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.17854	3.92;3.83;3.95;3.86;2.25	5.79	3.0	0.34707	.	0.578394	0.16647	N	0.205372	T	0.09992	0.0245	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.15473	0.003;0.001;0.002;0.013	B;B;B;B	0.10450	0.005;0.001;0.002;0.003	T	0.29640	-1.0005	10	0.34782	T	0.22	.	7.8742	0.29584	0.0:0.6829:0.0:0.3171	.	569;800;800;194	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	Q	768;800;800;800;194	ENSP00000354065:R768Q;ENSP00000352258:R800Q;ENSP00000343818:R800Q;ENSP00000353317:R800Q;ENSP00000400395:R194Q	ENSP00000343818:R800Q	R	-	2	0	CDK5RAP2	122255949	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	0.005000	0.13129	0.381000	0.24851	-0.137000	0.14449	CGG		0.468	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		T	123216128	C	T	123216128	3	4	642	1	0	0	0	0	1	0	0	0	3148	652	23	1	3354	1	CDK5RAP2	9	123216128	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	44505307	123216128	17997303	39	34955											
BAT2L1	84726	hgsc.bcm.edu	37	9	134305606	134305606	+	Missense_Mutation	SNP	T	T	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr9:134305606T>A	ENST00000357304.4	+	1	130	c.75T>A	c.(73-75)gaT>gaA	p.D25E	PRRC2B_ENST00000405995.1_Missense_Mutation_p.D25E|PRRC2B_ENST00000458550.1_Missense_Mutation_p.D25E	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	25							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCCTGTTTGATAAGTATAAAG	0.453																																																0													72	71	71					9																	134305606		1932	4130	6062	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.75T>A	chr9.hg19:g.134305606T>A	ENSP00000349856:p.Asp25Glu		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	hg19	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342715	0.82022	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.24151	1.87;1.87;1.87	6.17	1.26	0.21427	BAT2, N-terminal (1);	0.000000	0.41294	U	0.000904	T	0.44159	0.1280	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.22695	-1.0209	10	0.72032	D	0.01	-2.03	9.4094	0.38482	0.0:0.4505:0.0:0.5495	.	25	Q5JSZ5	PRC2B_HUMAN	E	25	ENSP00000384606:D25E;ENSP00000349856:D25E;ENSP00000398853:D25E	ENSP00000349856:D25E	D	+	3	2	PRRC2B	133295427	0.998000	0.40836	0.998000	0.56505	0.975000	0.68041	0.527000	0.22987	-0.031000	0.13781	-0.904000	0.02843	GAT		0.453	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	134305606	T	A	134305606	3	1	642	1	0	0	0	0	1	0	0	0	1320	1403	49	5	77	5	BAT2L1	9	134305606	Missense_Mutation	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10	11089478	134305606	6907825	40	34956											
EBF3	253738	hgsc.bcm.edu	37	10	131757260	131757260	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr10:131757260G>C	ENST00000355311.5	-	5	495	c.423C>G	c.(421-423)taC>taG	p.Y141*	EBF3_ENST00000368648.3_Nonsense_Mutation_p.Y141*			Q9H4W6	COE3_HUMAN	early B-cell factor 3	141					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCTGGCCCTCGTAGACGATGG	0.726																																																0													32	35	34					10																	131757260		2202	4300	6502	SO:0001587	stop_gained	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.423C>G	chr10.hg19:g.131757260G>C	ENSP00000347463:p.Tyr141*		A0AUY1|Q5T6H9|Q9H4W5	Nonsense_Mutation	SNP	ENST00000355311.5	hg19		.	.	.	.	.	.	.	.	.	.	G	37	6.328482	0.97476	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	.	.	.	4.32	-1.24	0.09435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.657	9.1925	0.37209	0.4955:0.0:0.5045:0.0	.	.	.	.	X	141	.	ENSP00000347463:Y141X	Y	-	3	2	EBF3	131647250	0.853000	0.29707	0.992000	0.48379	0.997000	0.91878	-0.038000	0.12144	-0.300000	0.08895	0.561000	0.74099	TAC		0.726	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		C	131757260	G	C	131757260	4	2	642	1	0	0	0	0	0	1	0	0	4884	1140	40	4	1280	4	EBF3	10	131757260	Nonsense_Mutation	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10		131757260	3777487	41	34957											
SIGIRR	59307	hgsc.bcm.edu	37	11	407106	407106	+	Silent	SNP	A	A	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr11:407106A>G	ENST00000431843.2	-	7	990	c.684T>C	c.(682-684)ctT>ctC	p.L228L	SIGIRR_ENST00000531205.1_Silent_p.L228L|SIGIRR_ENST00000332725.3_Silent_p.L228L|SIGIRR_ENST00000397632.3_Silent_p.L228L|SIGIRR_ENST00000382520.2_Silent_p.L228L|SIGIRR_ENST00000529486.1_5'Flank	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	228	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCGTCCGAAAGCACCACGA	0.751																																																0													10	12	12					11																	407106		2117	4206	6323	SO:0001819	synonymous_variant	59307				CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.684T>C	chr11.hg19:g.407106A>G			Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	hg19	CCDS31325.1																																																																																				0.751	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		G	407106	A	G	407106	2	3	642	1	0	0	0	0	0	0	0	1	14310	1	1	3		3	SIGIRR	11	407106	Silent	SNP	A	TCGA-F9-A7VF-01A-11D-A33Q-10		407106	134599410	42	34958											
OR5T2	219464	hgsc.bcm.edu	37	11	56000203	56000203	+	Silent	SNP	G	G	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr11:56000203G>A	ENST00000313264.4	-	1	534	c.459C>T	c.(457-459)ctC>ctT	p.L153L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTGCAGCCAAGAGAAAGCATT	0.418																																																0													179	153	162					11																	56000203		2201	4296	6497	SO:0001819	synonymous_variant	219464			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.459C>T	chr11.hg19:g.56000203G>A			B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	hg19	CCDS31523.1																																																																																				0.418	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		A	56000203	G	A	56000203	2	1	642	1	0	0	0	0	0	0	0	1	11184	929	33	2		2	OR5T2	11	56000203	Silent	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10	55593097	56000203	79006313	43	34959											
FAM86C	55199	hgsc.bcm.edu	37	11	71507154	71507154	+	Missense_Mutation	SNP	C	C	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr11:71507154C>A	ENST00000359244.4	+	4	376	c.353C>A	c.(352-354)tCt>tAt	p.S118Y	FAM86C1_ENST00000346333.6_Missense_Mutation_p.S84Y|FAM86C1_ENST00000426628.2_Missense_Mutation_p.S111Y	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	118										lung(1)	1						CTCCTCAATTCTACATGGCCC	0.642																																																0													94	99	97					11																	71507154		2200	4293	6493	SO:0001583	missense	55199			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.353C>A	chr11.hg19:g.71507154C>A	ENSP00000352182:p.Ser118Tyr		Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	hg19	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883348	0.33255	.	.	ENSG00000158483	ENST00000346333;ENST00000359244;ENST00000426628;ENST00000528685	T;T;T;T	0.25912	1.82;2.16;1.81;1.77	1.49	1.49	0.22878	.	.	.	.	.	T	0.29684	0.0741	N	0.24115	0.695	0.09310	N	0.999996	D;P;P	0.58970	0.984;0.952;0.952	D;B;B	0.63877	0.919;0.348;0.348	T	0.08411	-1.0723	9	0.87932	D	0	.	6.4456	0.21875	0.0:1.0:0.0:0.0	.	111;84;118	G3V0F7;Q9NVL1-2;Q9NVL1	.;.;FA86C_HUMAN	Y	84;118;111;84	ENSP00000325662:S84Y;ENSP00000352182:S118Y;ENSP00000391329:S111Y;ENSP00000436598:S84Y	ENSP00000325662:S84Y	S	+	2	0	FAM86C1	71184802	0.927000	0.31430	0.015000	0.15790	0.002000	0.02628	0.741000	0.26202	1.136000	0.42199	0.184000	0.17185	TCT		0.642	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		A	71507154	C	A	71507154	3	1	642	1	0	0	0	0	1	0	0	0	5648	913	32	4	452	4	FAM86C	11	71507154	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	15506951	71507154	63499362	44	34960											
ABCC9	10060	hgsc.bcm.edu	37	12	21962796	21962797	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr12:21962796_21962797delAG	ENST00000261201.4	-	35	4303_4304	c.4304_4305delCT	c.(4303-4305)cctfs	p.P1435fs	ABCC9_ENST00000261200.4_Frame_Shift_Del_p.P1435fs|ABCC9_ENST00000345162.2_Frame_Shift_Del_p.P1399fs	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1435	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTAGACCTCCAGGTAGAGATTT	0.342																																																0																																										SO:0001589	frameshift_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4304_4305delCT	chr12.hg19:g.21962796_21962797delAG	ENSP00000261201:p.Pro1435fs		O60707	Frame_Shift_Del	DEL	ENST00000261201.4	hg19	CCDS8694.1																																																																																				0.342	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		-	21962797	AG	-	21962796	7	5	642	1	0	1	0	1	0	0	0	0	59	175	7	0	502	0	ABCC9	12	21962796	Frame_Shift_Del	DEL	AG	TCGA-F9-A7VF-01A-11D-A33Q-10		21962796	111889099	45	34961											
GIT2	9815	hgsc.bcm.edu	37	12	110390969	110390969	+	Silent	SNP	G	G	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr12:110390969G>A	ENST00000355312.3	-	13	1169	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P	GIT2_ENST00000547815.1_Silent_p.P390P|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000338373.5_Silent_p.P390P|GIT2_ENST00000551209.1_Silent_p.P389P|GIT2_ENST00000553118.1_Silent_p.P390P|GIT2_ENST00000356259.4_Silent_p.P390P|GIT2_ENST00000354574.4_Silent_p.P392P|GIT2_ENST00000320063.9_Silent_p.P390P|GIT2_ENST00000361006.5_Silent_p.P390P|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000457474.2_Silent_p.P392P|GIT2_ENST00000360185.4_Silent_p.P390P	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	390					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P390P(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TGTCATAGTCGGGCTGATCGT	0.468																																																2	Substitution - coding silent(2)	lung(2)											259	209	226					12																	110390969		2203	4300	6503	SO:0001819	synonymous_variant	9815			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1170C>T	chr12.hg19:g.110390969G>A			Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	ENST00000355312.3	hg19	CCDS9138.1																																																																																				0.468	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		A	110390969	G	A	110390969	2	1	642	1	0	0	0	0	0	0	0	1	6399	1103	39	1		1	GIT2	12	110390969	Silent	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10	88428173	110390969	23460926	46	34962											
MYCBP2	23077	hgsc.bcm.edu	37	13	77732194	77732194	+	Silent	SNP	A	A	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr13:77732194A>G	ENST00000544440.2	-	45	6551	c.6534T>C	c.(6532-6534)caT>caC	p.H2178H	MYCBP2_ENST00000357337.6_Silent_p.H2178H|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.H2216H					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGTTGGTGAATGAGAAAGAG	0.333																																																0													86	87	87					13																	77732194		2203	4300	6503	SO:0001819	synonymous_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6534T>C	chr13.hg19:g.77732194A>G				Silent	SNP	ENST00000544440.2	hg19																																																																																					0.333	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		G	77732194	A	G	77732194	2	3	642	1	0	0	0	0	0	0	0	1	10020	98	4	3		3	MYCBP2	13	77732194	Silent	SNP	A	TCGA-F9-A7VF-01A-11D-A33Q-10		77732194	37437684	47	34963											
OR11H4	390442	hgsc.bcm.edu	37	14	20711302	20711302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr14:20711302G>T	ENST00000315409.2	+	1	405	c.352G>T	c.(352-354)Gga>Tga	p.G118*		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTTTTCACTGGGAACAACTGA	0.468																																																0													103	106	105					14																	20711302		2203	4300	6503	SO:0001587	stop_gained	390442				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"GPCR / Class A : Olfactory receptors"	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.352G>T	chr14.hg19:g.20711302G>T	ENSP00000318997:p.Gly118*		B2RNQ4|Q6IF07	Nonsense_Mutation	SNP	ENST00000315409.2	hg19	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411171	0.96072	.	.	ENSG00000176198	ENST00000315409	.	.	.	4.75	4.75	0.60458	.	0.000000	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.5741	15.2747	0.73732	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000318997:G118X	G	+	1	0	OR11H4	19781142	0.003000	0.15002	1.000000	0.80357	0.997000	0.91878	1.341000	0.33907	2.465000	0.83290	0.650000	0.86243	GGA		0.468	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			T	20711302	G	T	20711302	4	4	642	1	0	0	0	0	0	1	0	0	10930	1233	43	4	354	4	OR11H4	14	20711302	Nonsense_Mutation	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10		20711302	86638238	48	34964											
MYH7	4625	hgsc.bcm.edu	37	14	23900190	23900190	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr14:23900190C>T	ENST00000355349.3	-	10	977	c.815G>A	c.(814-816)aGa>aAa	p.R272K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	272	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAAAATAACTCTGGATTTTTC	0.423																																																0													77	84	82					14																	23900190		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.815G>A	chr14.hg19:g.23900190C>T	ENSP00000347507:p.Arg272Lys		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409375	0.62399	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.96716	-4.1	3.62	3.62	0.41486	Myosin head, motor domain (2);	.	.	.	.	D	0.98560	0.9519	H	0.99609	4.655	0.58432	D	0.999999	B	0.17038	0.02	B	0.39503	0.301	D	0.99930	1.1311	9	0.87932	D	0	.	15.4652	0.75394	0.0:1.0:0.0:0.0	.	272	P12883	MYH7_HUMAN	K	272	ENSP00000347507:R272K	ENSP00000347507:R272K	R	-	2	0	MYH7	22970030	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.395000	0.79876	1.862000	0.54008	0.305000	0.20034	AGA		0.423	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		T	23900190	C	T	23900190	3	4	642	1	0	0	0	0	1	0	0	0	10041	913	32	2	5116	2	MYH7	14	23900190	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10	3188888	23900190	83449350	49	34965											
ADCY4	196883	hgsc.bcm.edu	37	14	24798392	24798392	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr14:24798392G>A	ENST00000310677.4	-	11	1512	c.1399C>T	c.(1399-1401)Ctt>Ttt	p.L467F	ADCY4_ENST00000418030.2_Missense_Mutation_p.L467F|ADCY4_ENST00000554068.2_Missense_Mutation_p.L467F|ADCY4_ENST00000396747.3_Missense_Mutation_p.L160F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	467					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGGCCCTCAAGCGAGGACAGC	0.602																																																0													132	115	121					14																	24798392		2203	4300	6503	SO:0001583	missense	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1399C>T	chr14.hg19:g.24798392G>A	ENSP00000312126:p.Leu467Phe		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	hg19	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396149	0.25205	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.79749	-1.07;-1.07;-1.07;-1.3	4.75	3.86	0.44501	.	0.185106	0.26560	N	0.023685	T	0.60663	0.2286	N	0.08118	0	0.32417	N	0.549897	B	0.19706	0.038	B	0.23150	0.044	T	0.61840	-0.6980	10	0.46703	T	0.11	.	6.473	0.22020	0.0974:0.1841:0.7185:0.0	.	467	Q8NFM4	ADCY4_HUMAN	F	467;467;467;160	ENSP00000312126:L467F;ENSP00000452250:L467F;ENSP00000393177:L467F;ENSP00000379971:L160F	ENSP00000312126:L467F	L	-	1	0	ADCY4	23868232	0.755000	0.28372	0.993000	0.49108	0.802000	0.45316	0.530000	0.23036	1.223000	0.43536	0.655000	0.94253	CTT		0.602	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			A	24798392	G	A	24798392	3	1	642	1	0	0	0	0	1	0	0	0	296	971	34	2	1898	2	ADCY4	14	24798392	Missense_Mutation	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10	898202	24798392	82551148	50	34966											
HEATR5A	25938	hgsc.bcm.edu	37	14	31771694	31771694	+	Silent	SNP	G	G	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr14:31771694G>A	ENST00000389961.3	-	32	5252	c.5253C>T	c.(5251-5253)taC>taT	p.Y1751Y	HEATR5A_ENST00000439727.1_Silent_p.Y1464Y|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000543095.2_Silent_p.Y1757Y|HEATR5A_ENST00000439348.1_Intron			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1751										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGATTGTGAGGTACAATATAG	0.388																																																0													28	30	30					14																	31771694		1835	4085	5920	SO:0001819	synonymous_variant	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5253C>T	chr14.hg19:g.31771694G>A			Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	hg19																																																																																					0.388	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		A	31771694	G	A	31771694	2	1	642	1	0	0	0	0	0	0	0	1	7033	1256	44	2		2	HEATR5A	14	31771694	Silent	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10	6973302	31771694	75577846	51	34967											
CALM1	801	hgsc.bcm.edu	37	14	90870770	90870770	+	Silent	SNP	A	A	C			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr14:90870770A>C	ENST00000356978.4	+	5	581	c.333A>C	c.(331-333)acA>acC	p.T111T	CALM1_ENST00000447653.3_Silent_p.T112T|RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000553542.1_Silent_p.T75T|CALM1_ENST00000544280.2_Silent_p.T75T	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	111	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	ACGTCATGACAAACTTAGGAG	0.383																																																0													136	125	129					14																	90870770		2203	4300	6503	SO:0001819	synonymous_variant	801				CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"EF-hand domain containing", "Endogenous ligands"	1442	protein-coding gene	gene with protein product	"prepro-calmodulin 1"	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.333A>C	chr14.hg19:g.90870770A>C			P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Silent	SNP	ENST00000356978.4	hg19	CCDS9892.1																																																																																				0.383	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411346.1			C	90870770	A	C	90870770	2	2	642	1	0	0	0	0	0	0	0	1	2586	117	5	5		5	CALM1	14	90870770	Silent	SNP	A	TCGA-F9-A7VF-01A-11D-A33Q-10	59099076	90870770	16478770	52	34968											
HERC2	8924	hgsc.bcm.edu	37	15	28380665	28380665	+	Missense_Mutation	SNP	C	C	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr15:28380665C>G	ENST00000261609.7	-	79	12297	c.12189G>C	c.(12187-12189)tgG>tgC	p.W4063C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGCCTCACCCCAAGAGTAAA	0.393																																																0													170	175	174					15																	28380665		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12189G>C	chr15.hg19:g.28380665C>G	ENSP00000261609:p.Trp4063Cys			Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203842	0.79127	.	.	ENSG00000128731	ENST00000261609	D	0.92348	-3.02	5.08	5.08	0.68730	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	M	0.87097	2.86	0.80722	D	1	D	0.65815	0.995	D	0.69307	0.963	D	0.96907	0.9664	10	0.66056	D	0.02	.	18.8522	0.92237	0.0:1.0:0.0:0.0	.	4063	O95714	HERC2_HUMAN	C	4063	ENSP00000261609:W4063C	ENSP00000261609:W4063C	W	-	3	0	HERC2	26054260	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.762000	0.85270	2.515000	0.84797	0.557000	0.71058	TGG		0.393	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		G	28380665	C	G	28380665	3	3	642	1	0	0	0	0	1	0	0	0	7060	624	22	4	2375	4	HERC2	15	28380665	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10		28380665	74150727	53	34969											
RNF111	54778	hgsc.bcm.edu	37	15	59350658	59350658	+	Silent	SNP	T	T	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr15:59350658T>A	ENST00000557998.1	+	5	1562	c.1275T>A	c.(1273-1275)acT>acA	p.T425T	RNF111_ENST00000434298.1_Silent_p.T425T|RNF111_ENST00000559209.1_Silent_p.T425T|RNF111_ENST00000348370.4_Silent_p.T425T|RNF111_ENST00000561186.1_Silent_p.T425T	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	425	Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCTCTGATACTGCTTCAGCTG	0.448																																					NSCLC(72;983 1365 10746 34387 47081)											0													257	256	256					15																	59350658		2192	4291	6483	SO:0001819	synonymous_variant	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1275T>A	chr15.hg19:g.59350658T>A			C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	hg19	CCDS58366.1																																																																																				0.448	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		A	59350658	T	A	59350658	2	1	642	1	0	0	0	0	0	0	0	1	13431	1567	55	5		5	RNF111	15	59350658	Silent	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10	30969993	59350658	43180734	54	34970											
LACTB	114294	hgsc.bcm.edu	37	15	63419075	63419075	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr15:63419075G>T	ENST00000261893.4	+	3	514	c.442G>T	c.(442-444)Gtt>Ttt	p.V148F	LACTB_ENST00000413507.2_Missense_Mutation_p.V148F|RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	148						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TTATGCTGATGTTGAGAACCG	0.403																																					Melanoma(85;443 1381 6215 27308 35583)											0													112	105	107					15																	63419075		2203	4300	6503	SO:0001583	missense	114294			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.442G>T	chr15.hg19:g.63419075G>T	ENSP00000261893:p.Val148Phe		P83096	Missense_Mutation	SNP	ENST00000261893.4	hg19	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393503	0.62066	.	.	ENSG00000103642	ENST00000261893;ENST00000413507	T;T	0.45668	0.89;0.89	5.44	3.56	0.40772	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.190607	0.46758	D	0.000272	T	0.49847	0.1581	L	0.58925	1.835	0.80722	D	1	P	0.48407	0.91	P	0.55161	0.77	T	0.43376	-0.9395	10	0.48119	T	0.1	-7.0724	8.4616	0.32931	0.2365:0.0:0.7635:0.0	.	148	P83111	LACTB_HUMAN	F	148	ENSP00000261893:V148F;ENSP00000392956:V148F	ENSP00000261893:V148F	V	+	1	0	LACTB	61206128	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.182000	0.42556	0.667000	0.31107	0.563000	0.77884	GTT		0.403	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		T	63419075	G	T	63419075	3	4	642	1	0	0	0	0	1	0	0	0	8599	1377	48	4	452	4	LACTB	15	63419075	Missense_Mutation	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10	4068417	63419075	39112317	55	34971											
TRAP1	10131	hgsc.bcm.edu	37	16	3727498	3727498	+	Splice_Site	SNP	C	C	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr16:3727498C>G	ENST00000246957.5	-	6	793		c.e6+1		TRAP1_ENST00000573872.1_Splice_Site|TRAP1_ENST00000538171.1_Splice_Site|TRAP1_ENST00000575671.1_Splice_Site	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1						chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TCGTCACTCACCCATCTGAAA	0.552																																																0													67	63	65					16																	3727498		2197	4300	6497	SO:0001630	splice_region_variant	10131			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.704+1G>C	chr16.hg19:g.3727498C>G			B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Splice_Site	SNP	ENST00000246957.5	hg19	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137763	0.37728	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9543	0.92653	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAP1	3667499	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	7.385000	0.79763	2.714000	0.92807	0.655000	0.94253	.		0.552	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292	Intron	G	3727498	C	G	3727498	5	3	642	1	0	0	0	0	0	0	1	0	16460	521	18	4	1461	4	TRAP1	16	3727498	Splice_Site	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10		3727498	86627255	56	34972											
IL4R	3566	hgsc.bcm.edu	37	16	27375041	27375041	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr16:27375041A>G	ENST00000395762.2	+	11	2627	c.2368A>G	c.(2368-2370)Aaa>Gaa	p.K790E	IL4R_ENST00000170630.2_Missense_Mutation_p.K790E|IL4R_ENST00000380922.3_Missense_Mutation_p.K775E|IL4R_ENST00000543915.2_Missense_Mutation_p.K790E	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	790	Poly-Ser.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGAGAAGAGTAAATCCTCATC	0.597																																																0													75	76	76					16																	27375041		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.2368A>G	chr16.hg19:g.27375041A>G	ENSP00000379111:p.Lys790Glu		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	hg19	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.128742	0.56721	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.0	1.38	0.22167	.	8.071550	0.00166	N	0.000000	T	0.28699	0.0711	M	0.62723	1.935	0.09310	N	1	D;D;D	0.52996	0.957;0.957;0.957	P;P;P	0.50537	0.643;0.643;0.643	T	0.08806	-1.0704	10	0.72032	D	0.01	.	5.1314	0.14913	0.5404:0.3644:0.0952:0.0	.	775;790;790	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	E	790;790;775;790	ENSP00000379111:K790E;ENSP00000441667:K790E;ENSP00000370309:K775E;ENSP00000170630:K790E	ENSP00000170630:K790E	K	+	1	0	IL4R	27282542	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.178000	0.16820	0.297000	0.22615	0.533000	0.62120	AAA		0.597	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			G	27375041	A	G	27375041	3	3	642	1	0	0	0	0	1	0	0	0	7700	363	13	3	2420	3	IL4R	16	27375041	Missense_Mutation	SNP	A	TCGA-F9-A7VF-01A-11D-A33Q-10	23647543	27375041	62979712	57	34973											
HAS3	3038	hgsc.bcm.edu	37	16	69148783	69148783	+	Missense_Mutation	SNP	T	T	C			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr16:69148783T>C	ENST00000306560.1	+	4	1432	c.1276T>C	c.(1276-1278)Tac>Cac	p.Y426H	HAS3_ENST00000569188.1_Missense_Mutation_p.Y426H|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	426					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CAAGGCCACCTACGCCTGCTT	0.547																																																0													120	111	114					16																	69148783		2198	4300	6498	SO:0001583	missense	3038			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1276T>C	chr16.hg19:g.69148783T>C	ENSP00000304440:p.Tyr426His		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	hg19	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196679	0.79015	.	.	ENSG00000103044	ENST00000306560	T	0.50001	0.76	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66587	0.2804	M	0.74647	2.275	0.58432	D	0.999992	D	0.67145	0.996	D	0.63381	0.914	T	0.65861	-0.6065	10	0.37606	T	0.19	-4.479	16.3021	0.82825	0.0:0.0:0.0:1.0	.	426	O00219	HAS3_HUMAN	H	426	ENSP00000304440:Y426H	ENSP00000304440:Y426H	Y	+	1	0	HAS3	67706284	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.991000	0.88244	2.326000	0.78906	0.533000	0.62120	TAC		0.547	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		C	69148783	T	C	69148783	3	2	642	1	0	0	0	0	1	0	0	0	6965	1522	53	3	1286	3	HAS3	16	69148783	Missense_Mutation	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10	41773742	69148783	21205970	58	34974											
TRPV1	7442	hgsc.bcm.edu	37	17	3480920	3480920	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr17:3480920A>G	ENST00000571088.1	-	11	1898	c.1685T>C	c.(1684-1686)aTg>aCg	p.M562T	TRPV1_ENST00000310522.5_Missense_Mutation_p.M502T|TRPV1_ENST00000425167.2_Missense_Mutation_p.M573T|TRPV1_ENST00000399759.3_Missense_Mutation_p.M562T|RP11-235E17.3_ENST00000573568.1_RNA|TRPV1_ENST00000399756.4_Missense_Mutation_p.M562T|TRPV1_ENST00000576351.1_Missense_Mutation_p.M552T|SHPK_ENST00000572705.1_Missense_Mutation_p.M562T|TRPV1_ENST00000174621.6_Missense_Mutation_p.M560T	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	562					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ATAGATGCCCATCTGCTGGAA	0.572																																					Melanoma(38;962 1762 15789)											0													39	43	42					17																	3480920		1999	4150	6149	SO:0001583	missense	7442			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1685T>C	chr17.hg19:g.3480920A>G	ENSP00000461007:p.Met562Thr		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	hg19	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	a	7.422	0.636933	0.14386	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.22	5.22	0.72569	Ion transport (1);	0.035966	0.85682	D	0.000000	T	0.81908	0.4922	N	0.21508	0.67	0.58432	D	0.999998	B;B;B;B	0.22146	0.001;0.045;0.04;0.065	B;B;B;B	0.18871	0.006;0.008;0.023;0.015	T	0.76399	-0.2973	10	0.05833	T	0.94	-0.0301	14.5881	0.68342	1.0:0.0:0.0:0.0	.	562;560;502;573	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	T	562;562;560;573;502	ENSP00000382661:M562T;ENSP00000382659:M562T;ENSP00000174621:M560T;ENSP00000409627:M573T;ENSP00000311692:M502T	ENSP00000174621:M560T	M	-	2	0	TRPV1	3427669	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.471000	0.53107	2.103000	0.63969	0.456000	0.33151	ATG		0.572	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		G	3480920	A	G	3480920	3	3	642	1	0	0	0	0	1	0	0	0	16600	217	8	3	531	3	TRPV1	17	3480920	Missense_Mutation	SNP	A	TCGA-F9-A7VF-01A-11D-A33Q-10		3480920	77714290	59	34975											
ZZEF1	23140	hgsc.bcm.edu	37	17	3947660	3947660	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr17:3947660delT	ENST00000381638.2	-	38	6148	c.6024delA	c.(6022-6024)agafs	p.R2008fs		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2008							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATGAACAGCTCTCTTTCCCT	0.338																																																0													159	148	152					17																	3947660		2203	4300	6503	SO:0001589	frameshift_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6024delA	chr17.hg19:g.3947660delT	ENSP00000371051:p.Arg2008fs		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Frame_Shift_Del	DEL	ENST00000381638.2	hg19	CCDS11043.1																																																																																				0.338	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		-	3947660	T	-	3947660	7	5	642	1	0	1	0	1	0	0	0	0	18260	1548	54	0	2933	0	ZZEF1	17	3947660	Frame_Shift_Del	DEL	T	TCGA-F9-A7VF-01A-11D-A33Q-10	466740	3947660	77247550	60	34976											
SLC6A4	6532	hgsc.bcm.edu	37	17	28534784	28534784	+	Missense_Mutation	SNP	A	A	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr17:28534784A>T	ENST00000401766.2	-	12	2128	c.1616T>A	c.(1615-1617)aTc>aAc	p.I539N	RP11-354P11.4_ENST00000581633.1_RNA|SLC6A4_ENST00000261707.3_Missense_Mutation_p.I539N			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	539					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CACCCAGCAGATCCTCCAGAA	0.567																																																0													86	73	77					17																	28534784		2203	4300	6503	SO:0001583	missense	6532			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1616T>A	chr17.hg19:g.28534784A>T	ENSP00000385822:p.Ile539Asn		Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	hg19	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.792743	0.90453	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T;T	0.76448	-1.02;-0.93;-0.93	5.64	5.64	0.86602	.	0.176744	0.50627	D	0.000118	D	0.86851	0.6032	M	0.88512	2.96	0.51233	D	0.999916	B	0.30542	0.284	P	0.45037	0.467	D	0.87665	0.2537	10	0.87932	D	0	.	15.0294	0.71694	1.0:0.0:0.0:0.0	.	539	P31645	SC6A4_HUMAN	N	581;539;539	ENSP00000378298:I581N;ENSP00000385822:I539N;ENSP00000261707:I539N	ENSP00000261707:I539N	I	-	2	0	SLC6A4	25558910	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.531000	0.81973	2.153000	0.67306	0.482000	0.46254	ATC		0.567	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		T	28534784	A	T	28534784	3	4	642	1	0	0	0	0	1	0	0	0	14692	333	12	5	288	5	SLC6A4	17	28534784	Missense_Mutation	SNP	A	TCGA-F9-A7VF-01A-11D-A33Q-10	24587124	28534784	52660426	61	34977											
STAT5B	6777	hgsc.bcm.edu	37	17	40369252	40369259	+	Frame_Shift_Del	DEL	TCACCGAC	TCACCGAC	-			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	TCACCGAC	TCACCGAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr17:40369252_40369259delTCACCGAC	ENST00000293328.3	-	11	1467_1474	c.1299_1306delGTCGGTGA	c.(1297-1308)gagtcggtgacafs	p.ESVT433fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	433					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S434L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TTTTCTTCTGTCACCGACTCTGCCCCAC	0.438																																																1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1299_1306delGTCGGTGA	chr17.hg19:g.40369252_40369259delTCACCGAC	ENSP00000293328:p.Glu433fs		Q8WWS8	Frame_Shift_Del	DEL	ENST00000293328.3	hg19	CCDS11423.1																																																																																				0.438	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		-	40369259	TCACCGAC	-	40369252	7	5	642	1	0	1	0	1	0	0	0	0	15274	1667	58	0	1093	0	STAT5B	17	40369252	Frame_Shift_Del	DEL	TCACCGAC	TCGA-F9-A7VF-01A-11D-A33Q-10	11834468	40369252	40825958	62	34978											
DDX5	1655	hgsc.bcm.edu	37	17	62499923	62499923	+	Missense_Mutation	SNP	T	T	C			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr17:62499923T>C	ENST00000225792.5	-	5	906	c.505A>G	c.(505-507)Att>Gtt	p.I169V	DDX5_ENST00000450599.2_Missense_Mutation_p.I90V|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.I169V|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000580026.1_5'Flank|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	169	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ATACTTACAATAGGCCCATCG	0.353			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													63	65	64					17																	62499923		2203	4300	6503	SO:0001583	missense	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.505A>G	chr17.hg19:g.62499923T>C	ENSP00000225792:p.Ile169Val		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	hg19	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.133981	0.37630	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.63	5.63	0.86233	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.085601	0.64402	D	0.000001	T	0.52468	0.1736	L	0.29908	0.895	0.80722	D	1	B;P;P	0.39831	0.036;0.69;0.69	B;B;B	0.42827	0.095;0.346;0.399	T	0.56559	-0.7959	9	0.56958	D	0.05	-15.0797	15.87	0.79108	0.0:0.0:0.0:1.0	.	90;169;169	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	V	169;99;158	.	ENSP00000225792:I158V	I	-	1	0	DDX5	59930385	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	7.374000	0.79633	2.145000	0.66743	0.533000	0.62120	ATT		0.353	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		C	62499923	T	C	62499923	3	2	642	1	0	0	0	0	1	0	0	0	4369	1406	49	3	1375	3	DDX5	17	62499923	Missense_Mutation	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10	22130671	62499923	18695287	63	34979											
PRKAR1A	5573	hgsc.bcm.edu	37	17	66511650	66511650	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr17:66511650A>G	ENST00000589228.1	+	2	238	c.110A>G	c.(109-111)cAg>cGg	p.Q37R	PRKAR1A_ENST00000392711.1_Missense_Mutation_p.Q37R|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.Q37R|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.Q37R|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.Q37R|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.Q37R	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	37	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TCTATTGTGCAGTTGTGCACT	0.502			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"		"E, M"	0													84	68	73					17																	66511650		2203	4300	6503	SO:0001583	missense	5573	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.110A>G	chr17.hg19:g.66511650A>G	ENSP00000464977:p.Gln37Arg		K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	hg19	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.353606	0.61293	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.11	5.11	0.69529	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (3);	0.000000	0.85682	D	0.000000	T	0.78426	0.4281	M	0.71206	2.165	0.58432	D	0.999999	B;B	0.22604	0.072;0.072	B;B	0.29176	0.099;0.099	T	0.76553	-0.2917	10	0.48119	T	0.1	-23.4732	14.8899	0.70600	1.0:0.0:0.0:0.0	.	37;37	B2R5T5;P10644	.;KAP0_HUMAN	R	37	ENSP00000351410:Q37R;ENSP00000376475:Q37R;ENSP00000376474:Q37R;ENSP00000445625:Q37R	ENSP00000351410:Q37R	Q	+	2	0	PRKAR1A	64023245	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.339000	0.96797	1.917000	0.55516	0.533000	0.62120	CAG		0.502	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			G	66511650	A	G	66511650	3	3	642	1	0	0	0	0	1	0	0	0	12508	188	7	3	112	3	PRKAR1A	17	66511650	Missense_Mutation	SNP	A	TCGA-F9-A7VF-01A-11D-A33Q-10	4011727	66511650	14683560	64	34980											
EXOC7	23265	hgsc.bcm.edu	37	17	74097811	74097812	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr17:74097811_74097812AC>CA	ENST00000335146.7	-	3	312_313	c.259_260GT>TG	c.(259-261)GTc>TGc	p.V87C	EXOC7_ENST00000406660.3_Missense_Mutation_p.V87C|EXOC7_ENST00000607838.1_Missense_Mutation_p.V87C|EXOC7_ENST00000589210.1_Missense_Mutation_p.V87C|EXOC7_ENST00000332065.5_Missense_Mutation_p.V87C|EXOC7_ENST00000411744.2_Missense_Mutation_p.V87C|EXOC7_ENST00000467929.2_Missense_Mutation_p.V46C|EXOC7_ENST00000405575.4_Missense_Mutation_p.V87C			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	87					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTAGCTGATGACATGGTCCAGG	0.54																																																0																																										SO:0001583	missense	23265			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.259_260delinsCA	chr17.hg19:g.74097811_74097812delinsCA	ENSP00000334100:p.Val87Cys		B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	hg19	CCDS45782.1																																																																																				0.54	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		CA	74097812	AC	CA	74097811	3	2	642	1	0	0	0	0	1	0	0	0	5312	275	10	5	2019	5	EXOC7	17	74097811	Missense_Mutation	DNP	AC	TCGA-F9-A7VF-01A-11D-A33Q-10	7586161	74097811	7097399	65	34981											
HKR1	284459	hgsc.bcm.edu	37	19	37853726	37853726	+	Silent	SNP	C	C	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr19:37853726C>T	ENST00000324411.4	+	6	1298	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	HKR1_ENST00000392153.3_Silent_p.N324N|HKR1_ENST00000541583.2_Silent_p.N282N|HKR1_ENST00000591471.1_Silent_p.N70N|HKR1_ENST00000544914.1_Silent_p.N70N|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Silent_p.N325N	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	343					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAGTCGAACCTCTTTACAC	0.488																																																0													102	91	95					19																	37853726		2203	4300	6503	SO:0001819	synonymous_variant	284459			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1029C>T	chr19.hg19:g.37853726C>T			A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	hg19	CCDS12502.1																																																																																				0.488	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		T	37853726	C	T	37853726	2	4	642	1	0	0	0	0	0	0	0	1	7196	506	18	2		2	HKR1	19	37853726	Silent	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10		37853726	21275257	66	34982											
IGFL3	388555	hgsc.bcm.edu	37	19	46623600	46623601	+	Missense_Mutation	DNP	AC	AC	GA			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr19:46623600_46623601AC>GA	ENST00000341415.2	-	4	388_389	c.364_365GT>TC	c.(364-366)GTc>TCc	p.V122S	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	122						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		tgggtacaggacgTGCCTCCTG	0.455																																																0																																										SO:0001583	missense	388555			AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.364_365delinsGA	chr19.hg19:g.46623600_46623601delinsGA	ENSP00000344860:p.Val122Ser			Missense_Mutation	SNP	ENST00000341415.2	hg19	CCDS33058.1																																																																																				0.455	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393		GA	46623601	AC	GA	46623600	3	3	642	1	0	0	0	0	1	0	0	0	7590	275	10	3	16	3	IGFL3	19	46623600	Missense_Mutation	DNP	AC	TCGA-F9-A7VF-01A-11D-A33Q-10	8769874	46623600	12505383	67	34983											
MAVS	57506	hgsc.bcm.edu	37	20	3842062	3842062	+	Missense_Mutation	SNP	C	C	A			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr20:3842062C>A	ENST00000428216.2	+	4	504	c.376C>A	c.(376-378)Cac>Aac	p.H126N	MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_5'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	126	Pro-rich.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGCTGCGGCCCACAGCATCCC	0.637																																																0													73	73	73					20																	3842062		2203	4300	6503	SO:0001583	missense	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.376C>A	chr20.hg19:g.3842062C>A	ENSP00000401980:p.His126Asn		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	hg19	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309235	0.40895	.	.	ENSG00000088888	ENST00000428216	T	0.11604	2.76	3.84	3.84	0.44239	.	1.394380	0.04729	N	0.420774	T	0.18341	0.0440	L	0.43152	1.355	0.46061	D	0.998849	D	0.52996	0.957	P	0.51701	0.677	T	0.16897	-1.0387	10	0.17369	T	0.5	-2.9594	11.4651	0.50235	0.0:1.0:0.0:0.0	.	126	Q7Z434	MAVS_HUMAN	N	126	ENSP00000401980:H126N	ENSP00000401980:H126N	H	+	1	0	MAVS	3790062	0.078000	0.21339	0.024000	0.17045	0.017000	0.09413	1.020000	0.30027	2.148000	0.66965	0.591000	0.81541	CAC		0.637	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		A	3842062	C	A	3842062	3	1	642	1	0	0	0	0	1	0	0	0	9340	594	21	4	386	4	MAVS	20	3842062	Missense_Mutation	SNP	C	TCGA-F9-A7VF-01A-11D-A33Q-10		3842062	59183458	68	34984											
SLC13A3	64849	hgsc.bcm.edu	37	20	45216777	45216777	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr20:45216777G>T	ENST00000279027.4	-	8	1060	c.1042C>A	c.(1042-1044)Ctt>Att	p.L348I	SLC13A3_ENST00000413164.2_Missense_Mutation_p.L298I|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Missense_Mutation_p.L301I|SLC13A3_ENST00000372121.1_Missense_Mutation_p.L298I|SLC13A3_ENST00000472148.1_Intron|SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000290317.5_Missense_Mutation_p.L301I|SLC13A3_ENST00000396360.1_Intron	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	348					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATGCAGAAAAGGATGAAAACA	0.592																																																0													89	80	83					20																	45216777		2203	4300	6503	SO:0001583	missense	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1042C>A	chr20.hg19:g.45216777G>T	ENSP00000279027:p.Leu348Ile		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	hg19	CCDS13400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.89|11.89	1.774382|1.774382	0.31411|0.31411	.|.	.|.	ENSG00000158296|ENSG00000158296	ENST00000290317;ENST00000279027;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121|ENST00000450298	T;T;T;T;T;T;T|.	0.12672|.	3.89;3.89;3.89;3.89;3.89;2.67;2.66|.	5.77|5.77	3.61|3.61	0.41365|0.41365	.|.	0.147589|.	0.64402|.	D|.	0.000011|.	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.05199|0.05199	-0.095|-0.095	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26147|.	0.107;0.118;0.143|.	B;B;B|.	0.30943|.	0.053;0.075;0.122|.	T|T	0.06267|0.06267	-1.0836|-1.0836	10|5	0.28530|.	T|.	0.3|.	-5.8147|-5.8147	6.3165|6.3165	0.21194|0.21194	0.3814:0.0:0.6186:0.0|0.3814:0.0:0.6186:0.0	.|.	298;301;348|.	B4DIR8;F6WI18;Q8WWT9|.	.;.;S13A3_HUMAN|.	I|H	301;348;298;301;301;261;298|177	ENSP00000290317:L301I;ENSP00000279027:L348I;ENSP00000415852:L298I;ENSP00000419621:L301I;ENSP00000417784:L301I;ENSP00000395095:L261I;ENSP00000361193:L298I|.	ENSP00000279027:L348I|.	L|P	-|-	1|2	0|0	SLC13A3|SLC13A3	44650184|44650184	1.000000|1.000000	0.71417|0.71417	0.931000|0.931000	0.37212|0.37212	0.394000|0.394000	0.30568|0.30568	1.529000|1.529000	0.35996|0.35996	1.429000|1.429000	0.47314|0.47314	0.543000|0.543000	0.68304|0.68304	CTT|CCT		0.592	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			T	45216777	G	T	45216777	3	4	642	1	0	0	0	0	1	0	0	0	14399	1000	35	4	790	4	SLC13A3	20	45216777	Missense_Mutation	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10	41374715	45216777	17808743	69	34985											
BCAS1	8537	hgsc.bcm.edu	37	20	52612540	52612540	+	Missense_Mutation	SNP	T	T	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr20:52612540T>G	ENST00000395961.3	-	5	939	c.773A>C	c.(772-774)gAt>gCt	p.D258A	BCAS1_ENST00000371440.3_Missense_Mutation_p.D258A|BCAS1_ENST00000371435.2_Missense_Mutation_p.D258A|BCAS1_ENST00000434986.2_5'UTR	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	258						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GACAGAGCAATCCGCAGTTCC	0.473																																																0													148	122	131					20																	52612540		2203	4300	6503	SO:0001583	missense	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.773A>C	chr20.hg19:g.52612540T>G	ENSP00000379290:p.Asp258Ala		A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	hg19	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	T	5.880	0.346478	0.11126	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	6.03	-4.34	0.03666	.	0.949018	0.08921	N	0.874390	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.14012	0.009;0.009;0.003;0.008;0.008	B;B;B;B;B	0.13407	0.009;0.009;0.006;0.008;0.008	T	0.45542	-0.9254	10	0.37606	T	0.19	1.3367	7.6768	0.28490	0.1118:0.3398:0.0:0.5484	.	258;258;258;258;258	B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;BCAS1_HUMAN	A	120;258;136;258;258	ENSP00000396361:D120A;ENSP00000360495:D258A;ENSP00000379290:D258A;ENSP00000360490:D258A	ENSP00000360490:D258A	D	-	2	0	BCAS1	52045947	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.527000	0.06200	-0.559000	0.06110	-0.912000	0.02778	GAT		0.473	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		G	52612540	T	G	52612540	3	3	642	1	0	0	0	0	1	0	0	0	1350	1435	50	5	1013	5	BCAS1	20	52612540	Missense_Mutation	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10	7395763	52612540	10412980	70	34986											
HSPA13	6782	hgsc.bcm.edu	37	21	15746238	15746238	+	Silent	SNP	G	G	T			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chr21:15746238G>T	ENST00000285667.3	-	5	1183	c.1116C>A	c.(1114-1116)acC>acA	p.T372T	HSPA13_ENST00000544452.1_Silent_p.T164T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	372						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTTCATTAAGGGTATCAAAGA	0.403																																																0													143	154	150					21																	15746238		2203	4300	6503	SO:0001819	synonymous_variant	6782				CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"Heat shock proteins / HSP70"	11375	protein-coding gene	gene with protein product		601100	"stress 70 protein chaperone, microsome-associated, 60kD", "stress 70 protein chaperone, microsome-associated, 60kDa"	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.1116C>A	chr21.hg19:g.15746238G>T			B2R616|Q8NE40	Silent	SNP	ENST00000285667.3	hg19	CCDS13567.1																																																																																				0.403	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			T	15746238	G	T	15746238	2	4	642	1	0	0	0	0	0	0	0	1	7408	1219	43	4		4	HSPA13	21	15746238	Silent	SNP	G	TCGA-F9-A7VF-01A-11D-A33Q-10		15746238	32383657	71	34987											
MID1	4281	hgsc.bcm.edu	37	X	10535072	10535072	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chrX:10535072delC	ENST00000317552.4	-	2	916	c.516delG	c.(514-516)gggfs	p.G172fs	MID1_ENST00000380787.1_Frame_Shift_Del_p.G172fs|MID1_ENST00000453318.2_Frame_Shift_Del_p.G172fs|MID1_ENST00000380785.1_Frame_Shift_Del_p.G172fs|MID1_ENST00000380782.2_Frame_Shift_Del_p.G172fs|MID1_ENST00000380779.1_Frame_Shift_Del_p.G172fs|MID1_ENST00000380780.1_Frame_Shift_Del_p.G172fs	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	172					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGCACATCAGCCCCCGGATGT	0.522																																																0													112	94	100					X																	10535072		2203	4300	6503	SO:0001589	frameshift_variant	4281			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.516delG	chrX.hg19:g.10535072delC	ENSP00000312678:p.Gly172fs		B2RCG2|O75361|Q9BZX5	Frame_Shift_Del	DEL	ENST00000317552.4	hg19	CCDS14138.1																																																																																				0.522	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			-	10535072	C	-	10535072	7	5	642	1	0	1	0	1	0	0	0	0	9578	726	26	0	1523	0	MID1	23	10535072	Frame_Shift_Del	DEL	C	TCGA-F9-A7VF-01A-11D-A33Q-10		10535072	144735488	72	34988											
FIGF	2277	hgsc.bcm.edu	37	X	15364334	15364334	+	Missense_Mutation	SNP	T	T	G			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chrX:15364334T>G	ENST00000297904.3	-	7	1415	c.986A>C	c.(985-987)aAa>aCa	p.K329T	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	329					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					ACATGCTGTTTTGCCACTTGC	0.473																																																0													106	92	97					X																	15364334		2203	4300	6503	SO:0001583	missense	2277			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.986A>C	chrX.hg19:g.15364334T>G	ENSP00000297904:p.Lys329Thr		B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	hg19	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	T	3.622	-0.077390	0.07184	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.41	4.23	0.50019	.	0.098803	0.45606	N	0.000358	T	0.43567	0.1253	L	0.46157	1.445	0.33518	D	0.591948	P	0.52577	0.954	P	0.46452	0.517	T	0.54827	-0.8235	9	0.29301	T	0.29	-9.5606	9.854	0.41075	0.0:0.0817:0.0:0.9183	.	329	O43915	VEGFD_HUMAN	T	329	.	ENSP00000297904:K329T	K	-	2	0	FIGF	15274255	0.994000	0.37717	0.285000	0.24819	0.068000	0.16541	2.218000	0.42889	0.777000	0.33496	0.486000	0.48141	AAA		0.473	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		G	15364334	T	G	15364334	3	3	642	1	0	0	0	0	1	0	0	0	5891	1841	64	5	82	5	FIGF	23	15364334	Missense_Mutation	SNP	T	TCGA-F9-A7VF-01A-11D-A33Q-10	4829262	15364334	139906226	73	34989											
LAMP2	3920	hgsc.bcm.edu	37	X	119565189	119565190	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-F9-A7VF-01A-11D-A33Q-10	TCGA-F9-A7VF-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6f35b843-6207-45fa-b18f-ad0f104f9651	491d7fcd-e412-4f53-a19a-d5d51744cd81	g.chrX:119565189_119565190insAT	ENST00000200639.4	-	9	1357_1358	c.1221_1222insAT	c.(1219-1224)tatgagfs	p.E408fs	LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	408					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TAAAATTGCTCATATCCAGCAT	0.381																																																0																																										SO:0001589	frameshift_variant	3920			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1220_1221dupAT	chrX.hg19:g.119565192_119565193dupAT	ENSP00000200639:p.Glu408fs		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Frame_Shift_Ins	INS	ENST00000200639.4	hg19	CCDS14599.1																																																																																				0.381	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			AT	119565190	-	AT	119565189	7	5	642	1	0	1	1	0	0	0	0	0	8620	835	29	0	161	0	LAMP2	23	119565189	Frame_Shift_Ins	INS	-	TCGA-F9-A7VF-01A-11D-A33Q-10	104200855	119565189	35705371	74	34990											
NCDN	23154	hgsc.bcm.edu	37	1	36029001	36029001	+	Silent	SNP	C	C	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr1:36029001C>T	ENST00000373243.2	+	5	1967	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L	NCDN_ENST00000373253.3_Silent_p.L511L|NCDN_ENST00000356090.4_Silent_p.L528L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	528					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCTCAACCTCGTGGTCACCG	0.637																																																0													73	72	73					1																	36029001		2203	4300	6503	SO:0001819	synonymous_variant	23154			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1584C>T	chr1.hg19:g.36029001C>T			D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	hg19	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947208	0.18356	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.71	-9.43	0.00607	.	.	.	.	.	T	0.48333	0.1494	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58381	-0.7646	4	.	.	.	.	10.1742	0.42929	0.0:0.1196:0.3934:0.4871	.	.	.	.	L	122	.	.	S	+	2	0	NCDN	35801588	0.002000	0.14202	0.817000	0.32601	0.960000	0.62799	-1.658000	0.01977	-1.527000	0.01758	-1.244000	0.01528	TCG		0.637	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		T	36029001	C	T	36029001	2	4	643	1	0	0	0	0	0	0	0	1	10216	871	31	1		1	NCDN	1	36029001	Silent	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10		36029001	213221620	1	34991											
ARHGAP29	9411	hgsc.bcm.edu	37	1	94668545	94668554	+	Splice_Site	DEL	CAAGTAGAGG	CAAGTAGAGG	-			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	CAAGTAGAGG	CAAGTAGAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr1:94668545_94668554delCAAGTAGAGG	ENST00000260526.6	-	10	1056_1065	c.874_883delCCTCTACTTG	c.(874-885)cctctacttgga>ga	p.PLLG292fs	ARHGAP29_ENST00000370217.3_Splice_Site_p.PLLG292fs	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	292					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTTTCCTTCCAAGTAGAGGCTGTGAAAGG	0.286																																																0																																										SO:0001630	splice_region_variant	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.874-1CCTCTACTTG>-	chr1.hg19:g.94668545_94668554delCAAGTAGAGG			O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Frame_Shift_Del	DEL	ENST00000260526.6	hg19	CCDS748.1																																																																																				0.286	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	Frame_Shift_Del	-	94668554	CAAGTAGAGG	-	94668545	8	5	643	1	0	1	0	1	0	0	1	0	878	603	21	0	2958	0	ARHGAP29	1	94668545	Splice_Site	DEL	CAAGTAGAGG	TCGA-F9-A8NY-01A-11D-A35Z-10	58639544	94668545	154582076	2	34992											
KCNC4	3749	hgsc.bcm.edu	37	1	110768794	110768794	+	Missense_Mutation	SNP	C	C	T	rs200184574		TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr1:110768794C>T	ENST00000369787.3	+	3	1840	c.1813C>T	c.(1813-1815)Cgg>Tgg	p.R605W	KCNC4_ENST00000438661.2_Missense_Mutation_p.R605W|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.R605W	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	605					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGGTAGTGTCCGGAAAGGTAT	0.647																																																0													52	58	56					1																	110768794		2203	4300	6503	SO:0001583	missense	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1813C>T	chr1.hg19:g.110768794C>T	ENSP00000358802:p.Arg605Trp		Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	hg19	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656015	0.88056	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.98221	-4.8;-4.63;-4.69	5.19	5.19	0.71726	.	0.134642	0.30723	N	0.009019	D	0.97579	0.9207	L	0.59436	1.845	0.43073	D	0.99471	D;D	0.71674	0.997;0.998	P;P	0.50754	0.551;0.649	D	0.98158	1.0445	10	0.87932	D	0	.	18.7013	0.91621	0.0:1.0:0.0:0.0	.	605;605	Q03721;Q03721-3	KCNC4_HUMAN;.	W	605	ENSP00000358802:R605W;ENSP00000388029:R605W;ENSP00000393655:R605W	ENSP00000358802:R605W	R	+	1	2	KCNC4	110570317	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.651000	0.61447	2.430000	0.82344	0.462000	0.41574	CGG		0.647	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		T	110768794	C	T	110768794	3	4	643	1	0	0	0	0	1	0	0	0	8019	643	23	1	1957	1	KCNC4	1	110768794	Missense_Mutation	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10	16100249	110768794	138481827	3	34993											
IVNS1ABP	10625	hgsc.bcm.edu	37	1	185267408	185267411	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	ACAA	ACAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr1:185267408_185267411delACAA	ENST00000367498.3	-	15	2307_2310	c.1685_1688delTTGT	c.(1684-1689)tttgtafs	p.FV562fs	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Frame_Shift_Del_p.FV344fs	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	562					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.F562fs*26(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GCCACCACATACAAACAGTTTTCC	0.373																																																1	Deletion - Frameshift(1)	central_nervous_system(1)																																								SO:0001589	frameshift_variant	10625			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1685_1688delTTGT	chr1.hg19:g.185267408_185267411delACAA	ENSP00000356468:p.Phe562fs		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Frame_Shift_Del	DEL	ENST00000367498.3	hg19	CCDS1368.1																																																																																				0.373	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		-	185267411	ACAA	-	185267408	7	5	643	1	0	1	0	1	0	0	0	0	7932	391	14	0	244	0	IVNS1ABP	1	185267408	Frame_Shift_Del	DEL	ACAA	TCGA-F9-A8NY-01A-11D-A35Z-10	74498614	185267408	63983213	4	34994											
AVPR1B	553	hgsc.bcm.edu	37	1	206225073	206225073	+	Silent	SNP	G	G	T	rs150659663		TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr1:206225073G>T	ENST00000367126.4	+	1	1098	c.633G>T	c.(631-633)ccG>ccT	p.P211P	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	211					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCGTTCTGCCGGTGACCATGC	0.617																																																0													57	55	56					1																	206225073		2202	4300	6502	SO:0001819	synonymous_variant	553			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.633G>T	chr1.hg19:g.206225073G>T			B0M0J6|Q5TZ00	Silent	SNP	ENST00000367126.4	hg19	CCDS30994.1																																																																																				0.617	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		T	206225073	G	T	206225073	2	4	643	1	0	0	0	0	0	0	0	1	1232	1103	39	4		4	AVPR1B	1	206225073	Silent	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	20957665	206225073	43025548	5	34995											
GRHL1	29841	hgsc.bcm.edu	37	2	10126281	10126281	+	Silent	SNP	A	A	G			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr2:10126281A>G	ENST00000324907.9	+	9	1276	c.1140A>G	c.(1138-1140)acA>acG	p.T380T	GRHL1_ENST00000405379.2_Silent_p.T380T|GRHL1_ENST00000324883.5_Silent_p.T191T	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	380					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GCTTAAGCACAGATTTCTCTT	0.463																																																0													187	191	190					2																	10126281		2203	4300	6503	SO:0001819	synonymous_variant	29841			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1140A>G	chr2.hg19:g.10126281A>G			A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Silent	SNP	ENST00000324907.9	hg19	CCDS33144.2																																																																																				0.463	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		G	10126281	A	G	10126281	2	3	643	1	0	0	0	0	0	0	0	1	6765	175	7	3		3	GRHL1	2	10126281	Silent	SNP	A	TCGA-F9-A8NY-01A-11D-A35Z-10		10126281	233073092	6	34996											
MATN3	4148	hgsc.bcm.edu	37	2	20212199	20212199	+	Missense_Mutation	SNP	G	G	C			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr2:20212199G>C	ENST00000407540.3	-	1	256	c.194C>G	c.(193-195)aCc>aGc	p.T65S	MATN3_ENST00000421259.2_Missense_Mutation_p.T65S	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	65					extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCTCGCTGGTCCCGGAAGC	0.776																																																0													1	1	1					2																	20212199		306	662	968	SO:0001583	missense	4148			AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.194C>G	chr2.hg19:g.20212199G>C	ENSP00000383894:p.Thr65Ser		B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	hg19	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	G	4.047	0.006311	0.07866	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	T;T	0.78003	-1.14;-1.14	3.63	-4.48	0.03515	.	2.438210	0.02024	U	0.048018	T	0.56630	0.1998	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47182	-0.9137	10	0.08381	T	0.77	.	2.3036	0.04168	0.0979:0.2754:0.2087:0.418	.	65;65	B2CPU0;O15232	.;MATN3_HUMAN	S	65	ENSP00000383894:T65S;ENSP00000398753:T65S	ENSP00000383894:T65S	T	-	2	0	MATN3	20075680	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.729000	0.04920	-0.673000	0.05259	0.650000	0.86243	ACC		0.776	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		C	20212199	G	C	20212199	3	2	643	1	0	0	0	0	1	0	0	0	9337	1261	44	4	1298	4	MATN3	2	20212199	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	10085918	20212199	222987174	7	34997											
PTCD3	55037	hgsc.bcm.edu	37	2	86348656	86348656	+	Missense_Mutation	SNP	A	A	G	rs200261667		TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr2:86348656A>G	ENST00000254630.7	+	8	659	c.593A>G	c.(592-594)tAt>tGt	p.Y198C	PTCD3_ENST00000409277.3_Missense_Mutation_p.M157V|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	198					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTGTGTTACTATGGTGACCAG	0.378																																																0													121	115	117					2																	86348656		2203	4300	6503	SO:0001583	missense	55037				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.593A>G	chr2.hg19:g.86348656A>G	ENSP00000254630:p.Tyr198Cys		A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	hg19	CCDS33235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.96|10.96	1.498934|1.498934	0.26861|0.26861	.|.	.|.	ENSG00000132300|ENSG00000132300	ENST00000409783;ENST00000409277|ENST00000254630	T;T|T	0.46819|0.33438	0.92;0.86|1.41	5.14|5.14	2.71|2.71	0.32032|0.32032	.|.	.|0.110861	.|0.64402	.|D	.|0.000005	T|T	0.53658|0.53658	0.1810|0.1810	M|M	0.83603|0.83603	2.65|2.65	0.21064|0.21064	N|N	0.999791|0.999791	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.45542|0.45542	-0.9254|-0.9254	7|10	0.27082|0.38643	T|T	0.32|0.18	-13.7965|-13.7965	9.9922|9.9922	0.41879|0.41879	0.7303:0.0:0.0:0.2696|0.7303:0.0:0.0:0.2696	.|.	.|198	.|Q96EY7	.|PTCD3_HUMAN	V|C	157|198	ENSP00000386922:M157V;ENSP00000386462:M157V|ENSP00000254630:Y198C	ENSP00000386462:M157V|ENSP00000254630:Y198C	M|Y	+|+	1|2	0|0	PTCD3|PTCD3	86202167|86202167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.853000|0.853000	0.48598|0.48598	4.855000|4.855000	0.62925|0.62925	0.348000|0.348000	0.23949|0.23949	-1.282000|-1.282000	0.01380|0.01380	ATG|TAT		0.378	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		G	86348656	A	G	86348656	3	3	643	1	0	0	0	0	1	0	0	0	12734	449	16	3	623	3	PTCD3	2	86348656	Missense_Mutation	SNP	A	TCGA-F9-A8NY-01A-11D-A35Z-10	66136457	86348656	156850717	8	34998											
FAM178B	51252	hgsc.bcm.edu	37	2	97559675	97559675	+	Silent	SNP	C	C	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr2:97559675C>T	ENST00000417561.3	-	18	2207	c.2208G>A	c.(2206-2208)gaG>gaA	p.E736E	FAM178B_ENST00000490605.2_Silent_p.E588E|FAM178B_ENST00000470789.1_5'UTR|FAM178B_ENST00000327896.3_Silent_p.E556E|FAM178B_ENST00000393526.2_Silent_p.E28E			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	736										large_intestine(1)|ovary(1)	2						TGTGGTCTAGCTCGGCACTAG	0.627																																																0													107	91	97					2																	97559675		2203	4299	6502	SO:0001819	synonymous_variant	51252			AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.2208G>A	chr2.hg19:g.97559675C>T			A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Silent	SNP	ENST00000417561.3	hg19																																																																																					0.627	FAM178B-202	KNOWN	basic	protein_coding	protein_coding		NM_016490		T	97559675	C	T	97559675	2	4	643	1	0	0	0	0	0	0	0	1	5506	796	28	2		2	FAM178B	2	97559675	Silent	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10	11211019	97559675	145639698	9	34999											
CBLB	868	hgsc.bcm.edu	37	3	105459395	105459395	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr3:105459395G>T	ENST00000264122.4	-	7	1247	c.926C>A	c.(925-927)aCc>aAc	p.T309N	CBLB_ENST00000394027.3_Missense_Mutation_p.T331N|CBLB_ENST00000403724.1_Missense_Mutation_p.T309N|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.T309N	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	309	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATGAGGTATGGTCTGTAAGAT	0.418			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													150	126	134					3																	105459395		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.926C>A	chr3.hg19:g.105459395G>T	ENSP00000264122:p.Thr309Asn		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	hg19	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050656	0.93740	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.73	5.73	0.89815	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.91009	0.7172	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.91572	0.5272	10	0.87932	D	0	-17.5729	19.9155	0.97058	0.0:0.0:1.0:0.0	.	331;309;309	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	N	309;331;309;309	ENSP00000264122:T309N;ENSP00000377595:T331N;ENSP00000384816:T309N;ENSP00000384938:T309N	ENSP00000264122:T309N	T	-	2	0	CBLB	106942085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.465000	0.97660	2.699000	0.92147	0.650000	0.86243	ACC		0.418	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		T	105459395	G	T	105459395	3	4	643	1	0	0	0	0	1	0	0	0	2703	1261	44	4	2074	4	CBLB	3	105459395	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10		105459395	92563035	10	35000											
HNRPDL	9987	hgsc.bcm.edu	37	4	83350691	83350691	+	Silent	SNP	C	C	T	rs370944367		TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr4:83350691C>T	ENST00000295470.5	-	1	328	c.153G>A	c.(151-153)cgG>cgA	p.R51R	HNRNPDL_ENST00000602300.1_5'Flank|HNRNPDL_ENST00000514511.1_5'Flank|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000502762.1_Silent_p.R51R|HNRNPDL_ENST00000349655.4_5'Flank|ENOPH1_ENST00000273920.3_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	51					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										GCGCCCCCTGCCGGGCGGAGC	0.771													C|||	1	0.000199681	0.0008	0.0	5008	,	,		8953	0.0		0.0	False		,,,				2504	0.0															0								C	,	4,3044		0,4,1520	4	5	5		153,153	1.2	1	4		5	0,6810		0,0,3405	no	coding-synonymous,coding-synonymous	HNRPDL	NM_001207000.1,NM_031372.3	,	0,4,4925	TT,TC,CC		0.0,0.1312,0.0406	,	51/364,51/421	83350691	4,9854	1524	3405	4929	SO:0001819	synonymous_variant	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.153G>A	chr4.hg19:g.83350691C>T			Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Silent	SNP	ENST00000295470.5	hg19	CCDS3593.1																																																																																				0.771	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		T	83350691	C	T	83350691	2	4	643	1	0	0	0	0	0	0	0	1	7278	726	26	2		2	HNRPDL	4	83350691	Silent	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10		83350691	107803585	11	35001											
TRIML2	205860	hgsc.bcm.edu	37	4	189020257	189020257	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr4:189020257G>A	ENST00000512729.1	-	4	777	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	TRIML2_ENST00000326754.3_Missense_Mutation_p.R135C|TRIML2_ENST00000536972.1_Missense_Mutation_p.R185C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	135					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGAGGCTGCGGACCTGTTCA	0.483																																																0													107	104	105					4																	189020257		2203	4300	6503	SO:0001583	missense	205860			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.403C>T	chr4.hg19:g.189020257G>A	ENSP00000422581:p.Arg135Cys		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	hg19	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862400	0.32884	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.58060	3.51;0.36;3.75	4.72	-6.47	0.01902	.	0.361572	0.20462	N	0.091871	T	0.18130	0.0435	N	0.04508	-0.205	0.09310	N	0.999996	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.03761	-1.1006	10	0.44086	T	0.13	.	1.092	0.01665	0.2696:0.1336:0.3359:0.2609	.	185;135;135	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	C	135;135;185	ENSP00000422581:R135C;ENSP00000317498:R135C;ENSP00000441236:R185C	ENSP00000317498:R135C	R	-	1	0	TRIML2	189257251	0.000000	0.05858	0.006000	0.13384	0.172000	0.22775	-3.194000	0.00563	-0.991000	0.03476	-0.295000	0.09555	CGC		0.483	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		A	189020257	G	A	189020257	3	1	643	1	0	0	0	0	1	0	0	0	16556	1116	39	1	776	1	TRIML2	4	189020257	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	105669566	189020257	2134019	12	35002											
PCDHGA5	56110	hgsc.bcm.edu	37	5	140745680	140745680	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr5:140745680G>A	ENST00000518069.1	+	1	1783	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	595	Cadherin 6. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAGCGGTGGACAAAGATTC	0.657																																																0													76	86	83					5																	140745680		2203	4300	6503	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1783G>A	chr5.hg19:g.140745680G>A	ENSP00000429834:p.Asp595Asn		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	hg19	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	18.72	3.685011	0.68157	.	.	ENSG00000253485	ENST00000518069	T	0.33654	1.4	4.58	4.58	0.56647	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.80253	0.4589	H	0.99946	5.015	0.40492	D	0.980553	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91185	0.4979	9	0.87932	D	0	.	17.3301	0.87259	0.0:0.0:1.0:0.0	.	595;595	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	N	595	ENSP00000429834:D595N	ENSP00000429834:D595N	D	+	1	0	PCDHGA5	140725864	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	9.598000	0.98277	2.266000	0.75297	0.563000	0.77884	GAC		0.657	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		A	140745680	G	A	140745680	3	1	643	1	0	0	0	0	1	0	0	0	11559	1174	41	2	1785	2	PCDHGA5	5	140745680	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10		140745680	40169580	13	35003											
C6orf108	23113	hgsc.bcm.edu	37	6	43193850	43193850	+	IGR	SNP	C	C	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr6:43193850C>T	ENST00000252050.4	+	0	7780				DNPH1_ENST00000230431.6_Silent_p.L99L|DNPH1_ENST00000393987.2_Silent_p.L99L|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGCCTACACCCAAGGATGGCT	0.607																																																0													34	27	30					6																	43193850		2190	4285	6475	SO:0001628	intergenic_variant	10591			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723		chr6.hg19:g.43193850C>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	hg19	CCDS4890.1																																																																																				0.607	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		T	43193850	C	T	43193850	1	4	643	0	1	0	0	0	0	0	0	0	2322	593	21	2		2	C6orf108	6	43193850	IGR	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10		43193850	127921217	14	35004											
CDC5L	988	hgsc.bcm.edu	37	6	44355567	44355567	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr6:44355567C>T	ENST00000371477.3	+	1	306	c.7C>T	c.(7-9)Cga>Tga	p.R3*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	3	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAAGATGCCTCGAATTATGAT	0.607																																																0													29	29	29					6																	44355567		2200	4286	6486	SO:0001587	stop_gained	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.7C>T	chr6.hg19:g.44355567C>T	ENSP00000360532:p.Arg3*		Q76N46|Q99974	Nonsense_Mutation	SNP	ENST00000371477.3	hg19	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	C	42	9.432704	0.99169	.	.	ENSG00000096401	ENST00000371477	.	.	.	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9078	15.0684	0.72014	0.0:0.9308:0.0:0.0692	.	.	.	.	X	3	.	ENSP00000360532:R3X	R	+	1	2	CDC5L	44463545	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.562000	0.67346	2.674000	0.91012	0.650000	0.86243	CGA		0.607	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			T	44355567	C	T	44355567	4	4	643	1	0	0	0	0	0	1	0	0	3084	876	31	1	9	1	CDC5L	6	44355567	Nonsense_Mutation	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10	1161717	44355567	126759500	15	35005											
MAP3K4	4216	hgsc.bcm.edu	37	6	161512563	161512563	+	Missense_Mutation	SNP	T	T	G			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr6:161512563T>G	ENST00000392142.4	+	12	3274	c.3126T>G	c.(3124-3126)ttT>ttG	p.F1042L	MAP3K4_ENST00000348824.7_Missense_Mutation_p.F1042L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.F1042L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.F1042L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1042					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTACAATTTTGGATTTGAGG	0.363																																																0													144	146	145					6																	161512563		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3126T>G	chr6.hg19:g.161512563T>G	ENSP00000375986:p.Phe1042Leu		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	hg19	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593287	0.66219	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.74421	-0.81;-0.84;-0.82;-0.79	5.17	-0.3	0.12804	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	L	0.55834	1.745	0.58432	D	0.999996	P;P;D;D	0.76494	0.933;0.533;0.999;0.999	P;B;D;D	0.77557	0.85;0.083;0.99;0.986	T	0.67898	-0.5551	10	0.29301	T	0.29	-24.6745	9.7428	0.40429	0.0:0.2696:0.0:0.7304	.	1042;32;1042;1042	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	L	1042	ENSP00000355886:F1042L;ENSP00000375986:F1042L;ENSP00000355887:F1042L;ENSP00000297332:F1042L	ENSP00000297332:F1042L	F	+	3	2	MAP3K4	161432553	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	0.902000	0.28459	-0.197000	0.10350	-0.263000	0.10527	TTT		0.363	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			G	161512563	T	G	161512563	3	3	643	1	0	0	0	0	1	0	0	0	9254	1809	63	5	3172	5	MAP3K4	6	161512563	Missense_Mutation	SNP	T	TCGA-F9-A8NY-01A-11D-A35Z-10	117156996	161512563	9602504	16	35006											
PPP1R9A	55607	hgsc.bcm.edu	37	7	94540403	94540403	+	Silent	SNP	T	T	G			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr7:94540403T>G	ENST00000433881.1	+	2	1510	c.978T>G	c.(976-978)gcT>gcG	p.A326A	PPP1R9A_ENST00000424654.1_Silent_p.A326A|PPP1R9A_ENST00000433360.1_Silent_p.A326A|PPP1R9A_ENST00000456331.2_Silent_p.A326A|PPP1R9A_ENST00000340694.4_Silent_p.A326A|PPP1R9A_ENST00000289495.5_Silent_p.A326A			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	326					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AACCTTGTGCTGAAAGTAAGG	0.483										HNSCC(28;0.073)																																						0													75	76	76					7																	94540403		2203	4300	6503	SO:0001819	synonymous_variant	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.978T>G	chr7.hg19:g.94540403T>G			A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	hg19	CCDS34683.1																																																																																				0.483	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		G	94540403	T	G	94540403	2	3	643	1	0	0	0	0	0	0	0	1	12383	1567	55	5		5	PPP1R9A	7	94540403	Silent	SNP	T	TCGA-F9-A8NY-01A-11D-A35Z-10		94540403	64598260	17	35007											
LAMB4	22798	hgsc.bcm.edu	37	7	107743597	107743597	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr7:107743597C>T	ENST00000388781.3	-	10	1155	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	LAMB4_ENST00000418464.1_Missense_Mutation_p.V358M|LAMB4_ENST00000414450.2_Missense_Mutation_p.V358M|LAMB4_ENST00000205386.4_Missense_Mutation_p.V358M|LAMB4_ENST00000388780.3_Missense_Mutation_p.V358M	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	358	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTTCACACACGCCCCCGCTG	0.592																																																0													52	42	45					7																	107743597		2203	4300	6503	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1072G>A	chr7.hg19:g.107743597C>T	ENSP00000373433:p.Val358Met		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	hg19	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857613	0.71834	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.3	3.4	0.38934	EGF-like, laminin (3);	0.302038	0.23387	N	0.048736	T	0.66567	0.2802	M	0.74546	2.27	0.80722	D	1	D	0.57571	0.98	P	0.48089	0.566	T	0.71856	-0.4466	10	0.51188	T	0.08	.	12.9825	0.58572	0.0:0.9164:0.0:0.0835	.	358	A4D0S4	LAMB4_HUMAN	M	358	ENSP00000205386:V358M;ENSP00000373433:V358M;ENSP00000373432:V358M;ENSP00000402353:V358M;ENSP00000402265:V358M	ENSP00000205386:V358M	V	-	1	0	LAMB4	107530833	0.996000	0.38824	0.190000	0.23270	0.611000	0.37282	3.550000	0.53691	2.368000	0.80403	0.655000	0.94253	GTG		0.592	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		T	107743597	C	T	107743597	3	4	643	1	0	0	0	0	1	0	0	0	8615	536	19	1	4313	1	LAMB4	7	107743597	Missense_Mutation	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10	13203194	107743597	51395066	18	35008											
CNOT4	4850	hgsc.bcm.edu	37	7	135095338	135095338	+	Missense_Mutation	SNP	T	T	C			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr7:135095338T>C	ENST00000315544.5	-	7	1027	c.748A>G	c.(748-750)Aat>Gat	p.N250D	CNOT4_ENST00000451834.1_Missense_Mutation_p.N250D|CNOT4_ENST00000356162.4_Missense_Mutation_p.N250D|CNOT4_ENST00000361528.4_Missense_Mutation_p.N250D|CNOT4_ENST00000541284.1_Missense_Mutation_p.N250D|CNOT4_ENST00000428680.2_Missense_Mutation_p.N250D|CNOT4_ENST00000423368.2_Missense_Mutation_p.N250D|CNOT4_ENST00000414802.1_Missense_Mutation_p.N250D	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	250					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGAAGAAAATTGGGATTTAAT	0.343																																					Ovarian(51;766 1130 5502 35047 50875)											0													104	105	104					7																	135095338		1808	4070	5878	SO:0001583	missense	4850			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.748A>G	chr7.hg19:g.135095338T>C	ENSP00000326731:p.Asn250Asp		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	hg19	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.988872	0.53934	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.44083	0.95;0.94;0.96;0.94;0.96;0.96;0.93;0.95	5.52	5.52	0.82312	.	0.128185	0.64402	D	0.000001	T	0.28962	0.0719	N	0.19112	0.55	0.54753	D	0.999982	B;B;B;B;B;B	0.31817	0.031;0.053;0.031;0.023;0.187;0.341	B;B;B;B;B;B	0.27500	0.004;0.008;0.006;0.006;0.08;0.08	T	0.07462	-1.0771	10	0.30078	T	0.28	-6.89	15.644	0.77033	0.0:0.0:0.0:1.0	.	250;250;250;250;250;250	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	D	250	ENSP00000445508:N250D;ENSP00000388491:N250D;ENSP00000406777:N250D;ENSP00000354673:N250D;ENSP00000416532:N250D;ENSP00000348485:N250D;ENSP00000399108:N250D;ENSP00000326731:N250D	ENSP00000262563:N250D	N	-	1	0	CNOT4	134745878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.679000	0.68160	2.101000	0.63845	0.533000	0.62120	AAT		0.343	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		C	135095338	T	C	135095338	3	2	643	1	0	0	0	0	1	0	0	0	3623	1812	63	3	1296	3	CNOT4	7	135095338	Missense_Mutation	SNP	T	TCGA-F9-A8NY-01A-11D-A35Z-10	27351741	135095338	24043325	19	35009											
TG	7038	hgsc.bcm.edu	37	8	133899367	133899367	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr8:133899367G>T	ENST00000220616.4	+	9	1790	c.1750G>T	c.(1750-1752)Gct>Tct	p.A584S	TG_ENST00000377869.1_Missense_Mutation_p.A584S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	584					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTGCAACATGCTATCTCTGT	0.453																																																0													113	108	110					8																	133899367		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1750G>T	chr8.hg19:g.133899367G>T	ENSP00000220616:p.Ala584Ser		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	hg19	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022056	0.35701	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.66638	-0.22;-0.21	5.03	4.15	0.48705	.	0.194839	0.35615	N	0.003081	T	0.56688	0.2002	N	0.24115	0.695	0.21416	N	0.999696	D	0.53151	0.958	P	0.45276	0.475	T	0.55755	-0.8091	10	0.87932	D	0	.	14.0112	0.64498	0.0:0.0:0.8478:0.1522	.	584	P01266	THYG_HUMAN	S	584	ENSP00000367100:A584S;ENSP00000220616:A584S	ENSP00000220616:A584S	A	+	1	0	TG	133968549	0.995000	0.38212	0.618000	0.29105	0.017000	0.09413	3.676000	0.54612	1.326000	0.45319	-0.182000	0.12963	GCT		0.453	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		T	133899367	G	T	133899367	3	4	643	1	0	0	0	0	1	0	0	0	15818	1319	46	4	1784	4	TG	8	133899367	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10		133899367	12464655	20	35010											
TRAPPC9	83696	hgsc.bcm.edu	37	8	140743457	140743457	+	Silent	SNP	G	G	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr8:140743457G>T	ENST00000438773.2	-	23	3427	c.3294C>A	c.(3292-3294)ggC>ggA	p.G1098G	TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000389328.4_Silent_p.G1196G|TRAPPC9_ENST00000389327.3_Silent_p.G1089G	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1098					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGGCCGACTGGCCGGACGGCT	0.632																																																0													42	41	42					8																	140743457		2203	4300	6503	SO:0001819	synonymous_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3294C>A	chr8.hg19:g.140743457G>T			Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	hg19	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	6.675	0.493107	0.12702	.	.	ENSG00000167632	ENST00000520857	.	.	.	4.93	0.802	0.18686	.	.	.	.	.	T	0.54967	0.1891	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48175	-0.9058	4	.	.	.	.	8.0787	0.30731	0.0:0.2238:0.4519:0.3243	.	.	.	.	T	942	.	.	P	-	1	0	TRAPPC9	140812639	0.997000	0.39634	0.970000	0.41538	0.693000	0.40251	0.337000	0.19841	0.442000	0.26555	0.655000	0.94253	CCA		0.632	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		T	140743457	G	T	140743457	2	4	643	1	0	0	0	0	0	0	0	1	16470	1190	42	4		4	TRAPPC9	8	140743457	Silent	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	6844090	140743457	5620565	21	35011											
UHRF2	115426	hgsc.bcm.edu	37	9	6420922	6420922	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr9:6420922G>T	ENST00000276893.5	+	2	332	c.164G>T	c.(163-165)gGa>gTa	p.G55V	RP11-307L3.4_ENST00000411561.1_RNA|UHRF2_ENST00000381373.3_Missense_Mutation_p.G55V	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	55	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TTGGAAAATGGATATACCTTA	0.343																																																0													74	73	73					9																	6420922		2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.164G>T	chr9.hg19:g.6420922G>T	ENSP00000276893:p.Gly55Val		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	hg19	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287390	0.80803	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	T;T	0.74002	-0.8;-0.8	5.46	5.46	0.80206	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90237	0.4283	10	0.87932	D	0	-16.5314	19.296	0.94122	0.0:0.0:1.0:0.0	.	55	Q96PU4	UHRF2_HUMAN	V	55	ENSP00000276893:G55V;ENSP00000370778:G55V	ENSP00000276893:G55V	G	+	2	0	UHRF2	6410922	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.448000	0.90335	2.548000	0.85928	0.467000	0.42956	GGA		0.343	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		T	6420922	G	T	6420922	3	4	643	1	0	0	0	0	1	0	0	0	16975	1174	41	4	170	4	UHRF2	9	6420922	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10		6420922	134792509	22	35012											
DDX31	64794	hgsc.bcm.edu	37	9	135545507	135545507	+	Missense_Mutation	SNP	T	T	A			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr9:135545507T>A	ENST00000372159.3	-	1	281	c.130A>T	c.(130-132)Agt>Tgt	p.S44C	GTF3C4_ENST00000483873.2_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.S44C|DDX31_ENST00000372153.1_Missense_Mutation_p.S44C|GTF3C4_ENST00000372146.4_5'UTR|DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000480876.1_5'UTR	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	44						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GGGACAAGACTACCGCGCGTG	0.701																																																0													8	8	8					9																	135545507		2143	4213	6356	SO:0001583	missense	64794			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.130A>T	chr9.hg19:g.135545507T>A	ENSP00000361232:p.Ser44Cys		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	hg19	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	T	6.961	0.547182	0.13312	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000310532	T;T;T	0.06768	4.12;3.66;3.26	0.235	-0.47	0.12131	.	.	.	.	.	T	0.03305	0.0096	N	0.08118	0	0.20403	N	0.999909	B;B;B	0.29341	0.242;0.037;0.022	B;B;B	0.12156	0.007;0.003;0.001	T	0.38908	-0.9639	8	0.72032	D	0.01	.	.	.	.	.	44;44;44	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	C	44	ENSP00000361232:S44C;ENSP00000361226:S44C;ENSP00000310539:S44C	ENSP00000310539:S44C	S	-	1	0	DDX31	134535328	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.031000	0.01427	-0.750000	0.04740	-0.755000	0.03482	AGT		0.701	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		A	135545507	T	A	135545507	3	1	643	1	0	0	0	0	1	0	0	0	4358	1522	53	5	2512	5	DDX31	9	135545507	Missense_Mutation	SNP	T	TCGA-F9-A8NY-01A-11D-A35Z-10	129124585	135545507	5667924	23	35013											
PNPLA7	375775	hgsc.bcm.edu	37	9	140356049	140356049	+	Silent	SNP	G	G	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr9:140356049G>T	ENST00000277531.4	-	32	3891	c.3705C>A	c.(3703-3705)tcC>tcA	p.S1235S	NSMF_ENST00000371474.3_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.S1260S|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371475.3_5'Flank|PNPLA7_ENST00000371457.1_Silent_p.S841S|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000437259.1_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1235					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTCCGTGAAGGAGGCGTTGG	0.647																																																0													92	66	75					9																	140356049		2202	4299	6501	SO:0001819	synonymous_variant	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3705C>A	chr9.hg19:g.140356049G>T			B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	hg19	CCDS7045.1																																																																																				0.647	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		T	140356049	G	T	140356049	2	4	643	1	0	0	0	0	0	0	0	1	12172	987	35	4		4	PNPLA7	9	140356049	Silent	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	4810542	140356049	857382	24	35014											
BICC1	80114	hgsc.bcm.edu	37	10	60566346	60566347	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr10:60566346_60566347insTT	ENST00000373886.3	+	16	2188_2189	c.2184_2185insTT	c.(2185-2187)tttfs	p.F729fs	BICC1_ENST00000263103.1_Frame_Shift_Ins_p.F355fs	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	729					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATTTTCAGGCATTTGACTATGA	0.342																																																0																																										SO:0001589	frameshift_variant	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2185_2186dupTT	chr10.hg19:g.60566347_60566348dupTT	ENSP00000362993:p.Phe729fs			Frame_Shift_Ins	INS	ENST00000373886.3	hg19	CCDS31206.1																																																																																				0.342	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		TT	60566347	-	TT	60566346	7	5	643	1	0	1	1	0	0	0	0	0	1427	204	8	0	2246	0	BICC1	10	60566346	Frame_Shift_Ins	INS	-	TCGA-F9-A8NY-01A-11D-A35Z-10		60566346	74968401	25	35015											
LCOR	84458	hgsc.bcm.edu	37	10	98715228	98715228	+	Missense_Mutation	SNP	C	C	T	rs145573126		TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr10:98715228C>T	ENST00000371097.4	+	8	1397	c.851C>T	c.(850-852)aCg>aTg	p.T284M	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Missense_Mutation_p.T284M|LCOR_ENST00000540664.1_Missense_Mutation_p.T284M|LCOR_ENST00000371103.3_Missense_Mutation_p.T284M			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	284					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GGTTCACAAACGGAGAGCGCG	0.433																																																0								C	MET/THR,MET/THR,MET/THR	1,4405		0,1,2202	68	70	70		851,851,851	5.2	1	10	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LCOR	NM_001170765.1,NM_001170766.1,NM_032440.3	81,81,81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	284/434,284/407,284/434	98715228	2,13004	2203	4300	6503	SO:0001583	missense	84458				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.851C>T	chr10.hg19:g.98715228C>T	ENSP00000360138:p.Thr284Met		D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	hg19	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843438	0.51057	2.27E-4	1.16E-4	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.24	5.24	0.73138	.	0.213748	0.48286	D	0.000197	T	0.59878	0.2226	N	0.08118	0	0.40355	D	0.979177	D;D	0.89917	0.999;1.0	D;D	0.70227	0.93;0.968	T	0.69558	-0.5113	9	0.59425	D	0.04	-2.5696	19.1864	0.93645	0.0:1.0:0.0:0.0	.	284;284	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	M	284	.	ENSP00000348298:T284M	T	+	2	0	LCOR	98705218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.913000	0.48790	2.606000	0.88127	0.650000	0.86243	ACG		0.433	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			T	98715228	C	T	98715228	3	4	643	1	0	0	0	0	1	0	0	0	8691	536	19	1	861	1	LCOR	10	98715228	Missense_Mutation	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10	38148882	98715228	36819519	26	35016											
MUC2	4583	hgsc.bcm.edu	37	11	1093105	1093105	+	Missense_Mutation	SNP	C	C	G			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr11:1093105C>G	ENST00000441003.2	+	30	4951	c.4924C>G	c.(4924-4926)Cca>Gca	p.P1642A	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.P1609A	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	gaccccaaccccaacacccac	0.632																																																0													61	114	96					11																	1093105		1798	3404	5202	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4924C>G	chr11.hg19:g.1093105C>G	ENSP00000415183:p.Pro1642Ala		Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	C	4.060	0.008863	0.07912	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13420	2.59;2.97	1.75	0.768	0.18487	.	51.722200	0.00166	U	0.000001	T	0.04048	0.0113	.	.	.	0.09310	N	1	P	0.37663	0.604	B	0.21546	0.035	T	0.28332	-1.0047	9	0.06099	T	0.92	.	4.0341	0.09722	0.0:0.7604:0.0:0.2396	.	1642	E7EUV1	.	A	1642;1609	ENSP00000415183:P1642A;ENSP00000351956:P1609A	ENSP00000351956:P1609A	P	+	1	0	MUC2	1083105	0.000000	0.05858	0.011000	0.14972	0.183000	0.23260	-0.982000	0.03762	0.104000	0.17725	0.121000	0.15741	CCA		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		G	1093105	C	G	1093105	3	3	643	1	0	0	0	0	1	0	0	0	9977	623	22	4	5042	4	MUC2	11	1093105	Missense_Mutation	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10		1093105	133913411	27	35017											
CAND1	55832	hgsc.bcm.edu	37	12	67675700	67675700	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr12:67675700A>G	ENST00000545606.1	+	2	516	c.79A>G	c.(79-81)Aca>Gca	p.T27A		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	27					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GTTTATGGCTACAAATGATTT	0.269																																																0													56	57	57					12																	67675700		2203	4300	6503	SO:0001583	missense	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.79A>G	chr12.hg19:g.67675700A>G	ENSP00000442318:p.Thr27Ala		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	hg19	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043235	0.75732	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540525	T;T	0.61392	0.11;0.11	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.71871	2.18	0.80722	D	1	B	0.20988	0.05	B	0.25291	0.059	T	0.55573	-0.8120	9	.	.	.	-14.6611	15.9527	0.79855	1.0:0.0:0.0:0.0	.	27	Q86VP6	CAND1_HUMAN	A	27;27;3	ENSP00000442318:T27A;ENSP00000437594:T3A	.	T	+	1	0	CAND1	65961967	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.108000	0.94275	2.243000	0.73865	0.533000	0.62120	ACA		0.269	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		G	67675700	A	G	67675700	3	3	643	1	0	0	0	0	1	0	0	0	2617	391	14	3	85	3	CAND1	12	67675700	Missense_Mutation	SNP	A	TCGA-F9-A8NY-01A-11D-A35Z-10		67675700	66176195	28	35018											
PHLDA1	22822	hgsc.bcm.edu	37	12	76424606	76424606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr12:76424606G>A	ENST00000266671.5	-	1	3106	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Nonsense_Mutation_p.Q165*|RP11-290L1.2_ENST00000547721.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	306					apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gAGGGGGGCTGCTGCTGGACC	0.667																																																0													24	25	24					12																	76424606		2198	4285	6483	SO:0001587	stop_gained	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"proline-histidine rich protein"	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.916C>T	chr12.hg19:g.76424606G>A	ENSP00000266671:p.Gln306*		A1A4G9|Q15184|Q2TAN2|Q9NZ17	Nonsense_Mutation	SNP	ENST00000266671.5	hg19	CCDS31861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	54|54	21.720412|21.720412	0.99942|0.99942	.|.	.|.	ENSG00000139289|ENSG00000139289	ENST00000421361|ENST00000266671	.|.	.|.	.|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.187649	.|0.35615	.|N	.|0.003091	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.87932	.|D	.|0	.|-18.8753	11.6242|11.6242	0.51136|0.51136	0.0818:0.0:0.9182:0.0|0.0818:0.0:0.9182:0.0	.|.	.|.	.|.	.|.	.|X	-1|306	.|.	.|ENSP00000266671:Q306X	.|Q	-|-	.|1	.|0	PHLDA1|PHLDA1	74710873|74710873	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.915000|0.915000	0.54546|0.54546	3.829000|3.829000	0.55760|0.55760	2.630000|2.630000	0.89119|0.89119	0.561000|0.561000	0.74099|0.74099	.|CAG		0.667	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350		A	76424606	G	A	76424606	4	1	643	1	0	0	0	0	0	1	0	0	11850	1328	46	2	293	2	PHLDA1	12	76424606	Nonsense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	8748906	76424606	57427289	29	35019											
C12orf51	283450	hgsc.bcm.edu	37	12	112601434	112601434	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr12:112601434A>G	ENST00000430131.2	-	73	12688	c.11543T>C	c.(11542-11544)aTc>aCc	p.I3848T	HECTD4_ENST00000550722.1_Missense_Mutation_p.I4124T|HECTD4_ENST00000377560.5_Missense_Mutation_p.I4098T|HECTD4_ENST00000549141.1_5'Flank			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3848	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGCAGGGGGATGATGGAGCC	0.647																																																0													9	14	12					12																	112601434		1644	3264	4908	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11543T>C	chr12.hg19:g.112601434A>G	ENSP00000404379:p.Ile3848Thr		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	hg19		.	.	.	.	.	.	.	.	.	.	A	26.3	4.724471	0.89298	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.61627	0.09;0.09;0.09	5.73	5.73	0.89815	HECT (4);	.	.	.	.	T	0.62441	0.2428	M	0.79258	2.445	0.58432	D	0.999996	P	0.34587	0.458	B	0.35413	0.202	T	0.67480	-0.5660	9	0.87932	D	0	.	16.0193	0.80468	1.0:0.0:0.0:0.0	.	3848	Q9Y4D8	K0614_HUMAN	T	4098;3848;4124;313	ENSP00000366783:I4098T;ENSP00000404379:I3848T;ENSP00000449784:I4124T	ENSP00000366783:I4098T	I	-	2	0	C12orf51	111085817	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.747000	0.91610	2.190000	0.69967	0.533000	0.62120	ATC		0.647	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		G	112601434	A	G	112601434	3	3	643	1	0	0	0	0	1	0	0	0	1698	333	12	3	459	3	C12orf51	12	112601434	Missense_Mutation	SNP	A	TCGA-F9-A8NY-01A-11D-A35Z-10	36176828	112601434	21250461	30	35020											
EP400	57634	hgsc.bcm.edu	37	12	132547084	132547084	+	Silent	SNP	G	G	A			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr12:132547084G>A	ENST00000333577.4	+	48	8389	c.8280G>A	c.(8278-8280)caG>caA	p.Q2760Q	EP400_ENST00000332482.4_Silent_p.Q2687Q|EP400_ENST00000330386.6_Silent_p.Q2643Q|EP400_ENST00000389561.2_Silent_p.Q2724Q|EP400_ENST00000389562.2_Silent_p.Q2723Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2760	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcaacaac	0.557																																																0													30	33	32					12																	132547084		2203	4298	6501	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8280G>A	chr12.hg19:g.132547084G>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	hg19																																																																																					0.557	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		A	132547084	G	A	132547084	2	1	643	1	0	0	0	0	0	0	0	1	5151	962	34	2		2	EP400	12	132547084	Silent	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	19945650	132547084	1304811	31	35021											
IPO4	79711	hgsc.bcm.edu	37	14	24653966	24653966	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr14:24653966G>A	ENST00000354464.6	-	16	1702	c.1526C>T	c.(1525-1527)aCg>aTg	p.T509M	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	509					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTGGGCAGCCGTAGCTGCAGG	0.617																																																0													20	24	22					14																	24653966		2069	4195	6264	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1526C>T	chr14.hg19:g.24653966G>A	ENSP00000346453:p.Thr509Met		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	hg19	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101116	0.37048	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.04862	3.54	5.28	4.36	0.52297	Armadillo-like helical (1);Armadillo-type fold (1);	0.240834	0.41097	D	0.000945	T	0.06735	0.0172	L	0.42245	1.32	0.30447	N	0.775618	B	0.21753	0.06	B	0.26202	0.067	T	0.02553	-1.1142	10	0.49607	T	0.09	-1.6031	7.7196	0.28725	0.0:0.1584:0.5713:0.2703	.	509	Q8TEX9	IPO4_HUMAN	M	509;185	ENSP00000346453:T509M	ENSP00000346453:T509M	T	-	2	0	IPO4	23723806	0.995000	0.38212	0.990000	0.47175	0.527000	0.34593	2.514000	0.45503	2.764000	0.94973	0.558000	0.71614	ACG		0.617	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		A	24653966	G	A	24653966	3	1	643	1	0	0	0	0	1	0	0	0	7797	1145	40	1	1779	1	IPO4	14	24653966	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10		24653966	82695574	32	35022											
FLVCR2	55640	hgsc.bcm.edu	37	14	76107632	76107632	+	Silent	SNP	C	C	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr14:76107632C>T	ENST00000238667.4	+	8	1805	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.L198L|FLVCR2_ENST00000539311.1_Silent_p.L278L|FLVCR2_ENST00000556241.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	483					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAGCAGCCCTCACTGGTGAGT	0.527																																																0													95	82	86					14																	76107632		2203	4300	6503	SO:0001819	synonymous_variant	55640			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1449C>T	chr14.hg19:g.76107632C>T			B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	hg19	CCDS9844.1																																																																																				0.527	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		T	76107632	C	T	76107632	2	4	643	1	0	0	0	0	0	0	0	1	5948	813	29	2		2	FLVCR2	14	76107632	Silent	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10	51453666	76107632	31241908	33	35023											
ATG2B	55102	hgsc.bcm.edu	37	14	96752216	96752216	+	Missense_Mutation	SNP	G	G	C			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr14:96752216G>C	ENST00000359933.4	-	42	7006	c.6113C>G	c.(6112-6114)gCa>gGa	p.A2038G		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2038					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTTCACCACTGCCGGAGGAAT	0.557																																																0													99	82	88					14																	96752216		2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.6113C>G	chr14.hg19:g.96752216G>C	ENSP00000353010:p.Ala2038Gly		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	36	5.630816	0.96682	.	.	ENSG00000066739	ENST00000359933	T	0.12984	2.63	5.76	5.76	0.90799	Autophagy-related, C-terminal (1);	0.052478	0.85682	D	0.000000	T	0.33000	0.0848	M	0.67700	2.07	0.58432	D	0.999998	P	0.51147	0.942	P	0.54544	0.755	T	0.01235	-1.1410	10	0.87932	D	0	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	2038	Q96BY7	ATG2B_HUMAN	G	2038	ENSP00000353010:A2038G	ENSP00000353010:A2038G	A	-	2	0	ATG2B	95821969	1.000000	0.71417	0.165000	0.22776	0.954000	0.61252	9.450000	0.97607	2.713000	0.92767	0.655000	0.94253	GCA		0.557	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		C	96752216	G	C	96752216	3	2	643	1	0	0	0	0	1	0	0	0	1094	1319	46	4	127	4	ATG2B	14	96752216	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	20644584	96752216	10597324	34	35024											
FRMD5	84978	hgsc.bcm.edu	37	15	44166102	44166102	+	Missense_Mutation	SNP	C	C	G			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr15:44166102C>G	ENST00000417257.1	-	14	1870	c.1694G>C	c.(1693-1695)aGc>aCc	p.S565T	FRMD5_ENST00000484674.1_Missense_Mutation_p.E411D|FRMD5_ENST00000402883.1_Intron	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	565						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AATGAGCAGGCTCACCACTGA	0.542																																																0													46	47	47					15																	44166102		2198	4298	6496	SO:0001583	missense	84978			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1694G>C	chr15.hg19:g.44166102C>G	ENSP00000403067:p.Ser565Thr		Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	hg19	CCDS10107.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.92|12.92	2.082707|2.082707	0.36758|0.36758	.|.	.|.	ENSG00000171877|ENSG00000171877	ENST00000449926|ENST00000417257	D|D	0.84589|0.83163	-1.87|-1.69	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.247666	.|0.44688	.|D	.|0.000430	T|T	0.76608|0.76608	0.4011|0.4011	L|L	0.36672|0.36672	1.1|1.1	0.27650|0.27650	N|N	0.947438|0.947438	.|P;B	.|0.35272	.|0.493;0.361	.|B;B	.|0.32805	.|0.153;0.073	T|T	0.70288|0.70288	-0.4913|-0.4913	7|10	0.87932|0.34782	D|T	0|0.22	.|.	17.6986|17.6986	0.88289|0.88289	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|550;565	.|Q7Z6J6-2;Q7Z6J6	.|.;FRMD5_HUMAN	D|T	471|565	ENSP00000399684:E471D|ENSP00000403067:S565T	ENSP00000399684:E471D|ENSP00000403067:S565T	E|S	-|-	3|2	2|0	FRMD5|FRMD5	41953394|41953394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.902000|2.902000	0.48703|0.48703	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	GAG|AGC		0.542	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		G	44166102	C	G	44166102	3	3	643	1	0	0	0	0	1	0	0	0	6055	797	28	4	22	4	FRMD5	15	44166102	Missense_Mutation	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10		44166102	58365290	35	35025											
MAN2C1	4123	hgsc.bcm.edu	37	15	75653705	75653705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr15:75653705C>T	ENST00000267978.5	-	11	1282	c.1236G>A	c.(1234-1236)tgG>tgA	p.W412*	MAN2C1_ENST00000563622.1_Nonsense_Mutation_p.W313*|MAN2C1_ENST00000565683.1_Nonsense_Mutation_p.W412*|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000569482.1_Nonsense_Mutation_p.W412*	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	412					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCAGGCCCTCCCAGAAAAATG	0.617																																																0													28	29	29					15																	75653705		2179	4277	6456	SO:0001587	stop_gained	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.1236G>A	chr15.hg19:g.75653705C>T	ENSP00000267978:p.Trp412*		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Nonsense_Mutation	SNP	ENST00000267978.5	hg19	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695842	0.96802	.	.	ENSG00000140400	ENST00000267978	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9758	17.5661	0.87920	0.0:1.0:0.0:0.0	.	.	.	.	X	412	.	ENSP00000267978:W412X	W	-	3	0	MAN2C1	73440758	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.586000	0.53950	2.491000	0.84063	0.561000	0.74099	TGG		0.617	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			T	75653705	C	T	75653705	4	4	643	1	0	0	0	0	0	1	0	0	9220	624	22	2	1950	2	MAN2C1	15	75653705	Nonsense_Mutation	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10	31487603	75653705	26877687	36	35026											
KRT27	342574	hgsc.bcm.edu	37	17	38935785	38935785	+	Missense_Mutation	SNP	A	A	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr17:38935785A>T	ENST00000301656.3	-	5	981	c.941T>A	c.(940-942)cTt>cAt	p.L314H	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TTCAATCTCAAGGGTTTGAAG	0.453																																																0													72	66	68					17																	38935785		2203	4300	6503	SO:0001583	missense	342574			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.941T>A	chr17.hg19:g.38935785A>T	ENSP00000301656:p.Leu314His			Missense_Mutation	SNP	ENST00000301656.3	hg19	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632625	0.87660	.	.	ENSG00000171446	ENST00000301656	D	0.91464	-2.85	5.2	5.2	0.72013	Filament (1);	0.000000	0.43919	D	0.000520	D	0.96364	0.8814	M	0.93594	3.435	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	D	0.97365	0.9972	10	0.87932	D	0	.	14.5274	0.67897	1.0:0.0:0.0:0.0	.	314	Q7Z3Y8	K1C27_HUMAN	H	314	ENSP00000301656:L314H	ENSP00000301656:L314H	L	-	2	0	KRT27	36189311	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.072000	0.76777	2.092000	0.63282	0.482000	0.46254	CTT		0.453	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		T	38935785	A	T	38935785	3	4	643	1	0	0	0	0	1	0	0	0	8466	72	3	5	454	5	KRT27	17	38935785	Missense_Mutation	SNP	A	TCGA-F9-A8NY-01A-11D-A35Z-10		38935785	42259425	37	35027											
CDR2L	30850	hgsc.bcm.edu	37	17	72998179	72998179	+	Missense_Mutation	SNP	G	G	A	rs139957978		TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr17:72998179G>A	ENST00000337231.5	+	4	774	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	121												all_lung(278;0.226)					ACCATTGAGCGCCTCCAGGCT	0.662																																																0								G	HIS/ARG	0,4406		0,0,2203	29	29	29		362	5.2	1	17	dbSNP_134	29	1,8583		0,1,4291	no	missense	CDR2L	NM_014603.2	29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	121/466	72998179	1,12989	2203	4292	6495	SO:0001583	missense	30850				CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"paraneoplastic antigen"						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.362G>A	chr17.hg19:g.72998179G>A	ENSP00000336587:p.Arg121His		B4DFA7|Q15175	Missense_Mutation	SNP	ENST00000337231.5	hg19	CCDS11710.2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126558	0.56721	0.0	1.16E-4	ENSG00000109089	ENST00000337231	T	0.43688	0.94	5.22	5.22	0.72569	.	0.419993	0.28414	N	0.015421	T	0.42675	0.1213	L	0.44542	1.39	0.29647	N	0.844297	D	0.61697	0.99	P	0.44732	0.459	T	0.42932	-0.9422	10	0.44086	T	0.13	-14.3941	19.155	0.93506	0.0:0.0:1.0:0.0	.	121	Q86X02	CDR2L_HUMAN	H	121	ENSP00000336587:R121H	ENSP00000336587:R121H	R	+	2	0	CDR2L	70509774	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	3.159000	0.50731	2.609000	0.88269	0.563000	0.77884	CGC		0.662	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1	NM_014603		A	72998179	G	A	72998179	3	1	643	1	0	0	0	0	1	0	0	0	3175	1087	38	1	376	1	CDR2L	17	72998179	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	34062394	72998179	8197031	38	35028											
TLE6	79816	hgsc.bcm.edu	37	19	2987356	2987356	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr19:2987356C>T	ENST00000246112.4	+	8	745	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Nonsense_Mutation_p.Q59*	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	182					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGACAGAGCAGGCACCAGG	0.642																																																0													91	83	86					19																	2987356		2203	4300	6503	SO:0001587	stop_gained	79816			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.544C>T	chr19.hg19:g.2987356C>T	ENSP00000246112:p.Gln182*		J3KMZ1	Nonsense_Mutation	SNP	ENST00000246112.4	hg19	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848293	0.71603	.	.	ENSG00000104953	ENST00000246112;ENST00000452088;ENST00000441927	.	.	.	2.21	1.17	0.20885	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	4.533	0.12015	0.0:0.8078:0.0:0.1922	.	.	.	.	X	182;59;59	.	ENSP00000246112:Q182X	Q	+	1	0	TLE6	2938356	0.000000	0.05858	0.004000	0.12327	0.231000	0.25187	-0.030000	0.12308	0.493000	0.27837	0.555000	0.69702	CAG		0.642	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		T	2987356	C	T	2987356	4	4	643	1	0	0	0	0	0	1	0	0	15947	711	25	2	570	2	TLE6	19	2987356	Nonsense_Mutation	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10		2987356	56141627	39	35029											
ELOF1	84337	hgsc.bcm.edu	37	19	11664884	11664884	+	Silent	SNP	G	G	A			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr19:11664884G>A	ENST00000252445.3	-	3	192	c.129C>T	c.(127-129)cgC>cgT	p.R43R	ELOF1_ENST00000591674.1_Silent_p.R50R|ELOF1_ENST00000590700.1_Silent_p.R43R|ELOF1_ENST00000586120.1_Silent_p.R43R|ELOF1_ENST00000586683.1_Silent_p.R43R|ELOF1_ENST00000591912.1_Silent_p.R43R|ELOF1_ENST00000589171.1_Silent_p.R43R|ELOF1_ENST00000587806.1_Silent_p.R64R	NM_032377.3	NP_115753.1	P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(3)|lung(2)	5						CTCCGGTGTTGCGGGCACGGT	0.587																																																0													126	118	121					19																	11664884		2203	4300	6503	SO:0001819	synonymous_variant	84337			AK001171	CCDS12264.1	19p13.2	2008-02-05	2006-02-13			ENSG00000130165			28691	protein-coding gene	gene with protein product			"elongation factor 1 homolog (ELF1, S. cerevisiae)"			12477932	Standard	NM_032377		Approved	MGC4549, ELF1	uc002mse.1	P60002		ENST00000252445.3:c.129C>T	chr19.hg19:g.11664884G>A			Q8R1J7|Q96II4	Silent	SNP	ENST00000252445.3	hg19	CCDS12264.1																																																																																				0.587	ELOF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458868.1	NM_032377		A	11664884	G	A	11664884	2	1	643	1	0	0	0	0	0	0	0	1	5074	1306	46	2		2	ELOF1	19	11664884	Silent	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	8677528	11664884	47464099	40	35030											
C20orf185	359710	hgsc.bcm.edu	37	20	31644491	31644491	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr20:31644491G>A	ENST00000375494.3	+	2	268	c.268G>A	c.(268-270)Gag>Aag	p.E90K	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	90	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGGCGTTGTCGAGGAGCTCTC	0.582																																																0													89	83	85					20																	31644491		2203	4300	6503	SO:0001583	missense	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.268G>A	chr20.hg19:g.31644491G>A	ENSP00000364643:p.Glu90Lys		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	hg19	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.238200	0.01493	.	.	ENSG00000186190	ENST00000375494	T	0.04360	3.64	4.5	-5.52	0.02560	.	0.754568	0.11974	N	0.511404	T	0.03305	0.0096	L	0.51422	1.61	0.09310	N	1	B	0.21309	0.054	B	0.17979	0.02	T	0.50329	-0.8841	10	0.02654	T	1	-7.8418	7.2066	0.25911	0.247:0.4926:0.2604:0.0	.	90	P59826	BPIB3_HUMAN	K	90	ENSP00000364643:E90K	ENSP00000364643:E90K	E	+	1	0	BPIFB3	31108152	0.003000	0.15002	0.000000	0.03702	0.017000	0.09413	-0.080000	0.11339	-0.746000	0.04766	-1.099000	0.02127	GAG		0.582	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		A	31644491	G	A	31644491	3	1	643	1	0	0	0	0	1	0	0	0	2099	1059	37	1	274	1	C20orf185	20	31644491	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10		31644491	31381029	41	35031											
CCT8L2	150160	hgsc.bcm.edu	37	22	17072541	17072541	+	Silent	SNP	G	G	A			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chr22:17072541G>A	ENST00000359963.3	-	1	1159	c.900C>T	c.(898-900)gaC>gaT	p.D300D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	300					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGGTCTCCTCGTCGACCTCCC	0.493																																																0													194	173	180					22																	17072541		2203	4300	6503	SO:0001819	synonymous_variant	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.900C>T	chr22.hg19:g.17072541G>A			A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	hg19	CCDS13738.1																																																																																				0.493	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			A	17072541	G	A	17072541	2	1	643	1	0	0	0	0	0	0	0	1	2963	1136	40	1		1	CCT8L2	22	17072541	Silent	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10		17072541	34232025	42	35032											
HUWE1	10075	hgsc.bcm.edu	37	X	53616526	53616526	+	Missense_Mutation	SNP	A	A	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chrX:53616526A>T	ENST00000342160.3	-	35	4899	c.4442T>A	c.(4441-4443)cTg>cAg	p.L1481Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.L1481Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.L1481Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1481					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACTTGCTTCAGAATCATGTC	0.453																																																0													188	164	172					X																	53616526		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4442T>A	chrX.hg19:g.53616526A>T	ENSP00000340648:p.Leu1481Gln		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319177	0.81469	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.60548	0.43;0.43;0.18	5.74	5.74	0.90152	Armadillo-like helical (1);	0.000000	0.64402	D	0.000006	T	0.66771	0.2823	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.70342	-0.4898	10	0.87932	D	0	.	13.9311	0.63996	1.0:0.0:0.0:0.0	.	1481;1481	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	1481	ENSP00000340648:L1481Q;ENSP00000262854:L1481Q;ENSP00000218328:L1481Q	ENSP00000218328:L1481Q	L	-	2	0	HUWE1	53633251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.977000	0.93446	1.935000	0.56089	0.486000	0.48141	CTG		0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		T	53616526	A	T	53616526	3	4	643	1	0	0	0	0	1	0	0	0	7463	188	7	5	8878	5	HUWE1	23	53616526	Missense_Mutation	SNP	A	TCGA-F9-A8NY-01A-11D-A35Z-10		53616526	101654034	43	35033											
AR	367	hgsc.bcm.edu	37	X	66766365	66766365	+	Silent	SNP	C	C	T			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chrX:66766365C>T	ENST00000374690.3	+	1	1901	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	AR_ENST00000504326.1_Silent_p.G459G|AR_ENST00000396044.3_Silent_p.G459G|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	457	Modulating.|Poly-Gly.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	gtggcggcggcggcggcggcg	0.756									Androgen Insensitivity Syndrome																																							0																																										SO:0001819	synonymous_variant	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1377C>T	chrX.hg19:g.66766365C>T			A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	hg19	CCDS14387.1																																																																																				0.756	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66766365	C	T	66766365	2	4	643	1	0	0	0	0	0	0	0	1	836	755	27	1		1	AR	23	66766365	Silent	SNP	C	TCGA-F9-A8NY-01A-11D-A35Z-10	13149839	66766365	88504195	44	35034											
PGAM4	441531	hgsc.bcm.edu	37	X	77225038	77225038	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chrX:77225038G>A	ENST00000458128.1	-	1	97	c.98C>T	c.(97-99)gCg>gTg	p.A33V	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	33					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CTCGTGGCCCGCCGGGCTCAG	0.637																																																0													55	57	56					X																	77225038		2202	4294	6496	SO:0001583	missense	441531			AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"phosphoglycerate mutase family 4"			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.98C>T	chrX.hg19:g.77225038G>A	ENSP00000412189:p.Ala33Val		Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	hg19	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761398	0.31228	.	.	ENSG00000226784	ENST00000458128	T	0.71579	-0.58	0.119	0.119	0.14685	Histidine phosphatase superfamily, clade-1 (2);	0.066185	0.64402	U	0.000014	T	0.40498	0.1119	N	0.05078	-0.115	0.28813	N	0.898138	B	0.06786	0.001	B	0.06405	0.002	T	0.20240	-1.0281	9	.	.	.	-18.5376	6.135	0.20227	4.0E-4:0.0:0.9996:0.0	.	33	Q8N0Y7	PGAM4_HUMAN	V	33	ENSP00000412189:A33V	.	A	-	2	0	PGAM4	77111694	0.000000	0.05858	0.426000	0.26672	0.444000	0.32077	-0.239000	0.08965	0.260000	0.21731	0.264000	0.19307	GCG		0.637	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		A	77225038	G	A	77225038	3	1	643	1	0	0	0	0	1	0	0	0	11777	1087	38	1	670	1	PGAM4	23	77225038	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	10458673	77225038	78045522	45	35035											
NRK	203447	hgsc.bcm.edu	37	X	105153848	105153848	+	Missense_Mutation	SNP	G	G	C			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chrX:105153848G>C	ENST00000243300.9	+	13	2518	c.2215G>C	c.(2215-2217)Gag>Cag	p.E739Q	NRK_ENST00000428173.2_Missense_Mutation_p.E740Q	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	739					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TAATCAGCATGAGGAAGAATT	0.393										HNSCC(51;0.14)																																						0													13	11	12					X																	105153848		1840	4056	5896	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2215G>C	chrX.hg19:g.105153848G>C	ENSP00000434830:p.Glu739Gln		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	hg19		.	.	.	.	.	.	.	.	.	.	G	12.75	2.032692	0.35893	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79141	-1.23;-1.24	4.27	4.27	0.50696	.	0.000000	0.49305	D	0.000143	T	0.80226	0.4584	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.986	T	0.81656	-0.0834	10	0.87932	D	0	.	10.9826	0.47504	0.0:0.0:1.0:0.0	.	407;739	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	Q	739;740	ENSP00000434830:E739Q;ENSP00000438378:E740Q	ENSP00000434830:E739Q	E	+	1	0	NRK	105040504	0.998000	0.40836	0.897000	0.35233	0.099000	0.18886	3.621000	0.54210	2.358000	0.79984	0.600000	0.82982	GAG		0.393	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		C	105153848	G	C	105153848	3	2	643	1	0	0	0	0	1	0	0	0	10657	1291	45	4	2265	4	NRK	23	105153848	Missense_Mutation	SNP	G	TCGA-F9-A8NY-01A-11D-A35Z-10	27928810	105153848	50116712	46	35036											
ATP2B3	492	hgsc.bcm.edu	37	X	152826209	152826211	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-F9-A8NY-01A-11D-A35Z-10	TCGA-F9-A8NY-10A-01D-A35Z-10	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	af2f02ad-e74d-4e56-98c2-b25edf27b998	49bd4b7d-d8c0-4ce3-adcf-81f81c37b6fd	g.chrX:152826209_152826211delTCT	ENST00000349466.2	+	18	3241_3243	c.2915_2917delTCT	c.(2914-2919)atcttc>atc	p.F973del	ATP2B3_ENST00000370181.2_In_Frame_Del_p.F959del|ATP2B3_ENST00000359149.3_In_Frame_Del_p.F973del|ATP2B3_ENST00000263519.4_In_Frame_Del_p.F973del|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_In_Frame_Del_p.F959del|ATP2B3_ENST00000370186.1_In_Frame_Del_p.F959del			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	973					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACACCATCATCTTCAACACGTT	0.557																																																0																																										SO:0001651	inframe_deletion	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2915_2917delTCT	chrX.hg19:g.152826209_152826211delTCT	ENSP00000343886:p.Phe973del		B7WNR8|B7WNY5|Q12995|Q16858	In_Frame_Del	DEL	ENST00000349466.2	hg19	CCDS35440.1																																																																																				0.557	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		-	152826211	TCT	-	152826209	7	5	643	1	0	1	0	1	0	0	0	0	1141	1435	50	0	2981	0	ATP2B3	23	152826209	In_Frame_Del	DEL	TCT	TCGA-F9-A8NY-01A-11D-A35Z-10	47672361	152826209	2444351	47	35037											
HSPG2	3339	hgsc.bcm.edu	37	1	22166446	22166446	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr1:22166446G>A	ENST00000374695.3	-	72	9657	c.9578C>T	c.(9577-9579)aCa>aTa	p.T3193I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3193	Ig-like C2-type 17.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTTCTGTGCTGTGCCTAGTGC	0.572																																																0													193	180	184					1																	22166446		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9578C>T	chr1.hg19:g.22166446G>A	ENSP00000363827:p.Thr3193Ile		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	hg19	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435771	0.25813	.	.	ENSG00000142798	ENST00000374695	T	0.68025	-0.3	5.69	2.83	0.33086	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.191721	0.25789	N	0.028294	T	0.57140	0.2033	L	0.48260	1.515	0.28557	N	0.911322	B;P	0.35174	0.004;0.488	B;B	0.37198	0.027;0.243	T	0.48614	-0.9020	10	0.26408	T	0.33	.	10.077	0.42366	0.2205:0.0:0.7795:0.0	.	1133;3193	Q59EG0;P98160	.;PGBM_HUMAN	I	3193	ENSP00000363827:T3193I	ENSP00000363827:T3193I	T	-	2	0	HSPG2	22039033	0.995000	0.38212	0.979000	0.43373	0.026000	0.11368	2.062000	0.41413	0.351000	0.24027	-0.251000	0.11542	ACA		0.572	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		A	22166446	G	A	22166446	3	1	644	1	0	0	0	0	1	0	0	0	7432	1377	48	2	3701	2	HSPG2	1	22166446	Missense_Mutation	SNP	G	TCGA-F9-A97G-01A-11D-A382-10		22166446	227084175	1	35038											
SRRM1	10250	hgsc.bcm.edu	37	1	24972473	24972473	+	Splice_Site	SNP	A	A	G			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr1:24972473A>G	ENST00000323848.9	+	2	336		c.e2-1		SRRM1_ENST00000374389.4_Splice_Site|SRRM1_ENST00000537199.1_5'Flank|SRRM1_ENST00000479034.1_Splice_Site|SRRM1_ENST00000447431.2_Splice_Site	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTCTTCCTGCAGGGAACAAGT	0.383																																					Ovarian(68;897 1494 3282 17478)											0													116	117	116					1																	24972473		2203	4300	6503	SO:0001630	splice_region_variant	10250			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.22-1A>G	chr1.hg19:g.24972473A>G			O60585|Q5VVN4	Splice_Site	SNP	ENST00000323848.9	hg19	CCDS255.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815395	0.70912	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2129	0.73241	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRRM1	24845060	1.000000	0.71417	0.984000	0.44739	0.778000	0.44026	9.261000	0.95576	2.062000	0.61559	0.482000	0.46254	.		0.383	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	Intron	G	24972473	A	G	24972473	5	3	644	1	0	0	0	0	0	0	1	0	15173	202	7	3	26	3	SRRM1	1	24972473	Splice_Site	SNP	A	TCGA-F9-A97G-01A-11D-A382-10	2806027	24972473	224278148	2	35039											
DLGAP3	58512	hgsc.bcm.edu	37	1	35350632	35350632	+	Silent	SNP	G	G	A	rs143986097		TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr1:35350632G>A	ENST00000373347.1	-	8	2215	c.1947C>T	c.(1945-1947)aaC>aaT	p.N649N	DLGAP3_ENST00000235180.4_Silent_p.N649N			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	649					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCCGGCTCCTGTTCTCGGTGT	0.612																																																0													102	98	100					1																	35350632		2203	4300	6503	SO:0001819	synonymous_variant	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1947C>T	chr1.hg19:g.35350632G>A			Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	hg19	CCDS30670.1																																																																																				0.612	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		A	35350632	G	A	35350632	2	1	644	1	0	0	0	0	0	0	0	1	4563	1368	48	2		2	DLGAP3	1	35350632	Silent	SNP	G	TCGA-F9-A97G-01A-11D-A382-10	10378159	35350632	213899989	3	35040											
KCNQ4	9132	hgsc.bcm.edu	37	1	41285146	41285146	+	Splice_Site	SNP	T	T	G			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr1:41285146T>G	ENST00000347132.5	+	5	916		c.e5+2		KCNQ4_ENST00000509682.2_Splice_Site|KCNQ4_ENST00000506017.1_Splice_Site	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4						inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TGGGGGACGGTGCGTGAGGGT	0.627																																																0													105	94	98					1																	41285146		2203	4300	6503	SO:0001630	splice_region_variant	9132			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.834+2T>G	chr1.hg19:g.41285146T>G			O96025	Splice_Site	SNP	ENST00000347132.5	hg19	CCDS456.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604351	0.87157	.	.	ENSG00000117013	ENST00000347132;ENST00000509682;ENST00000443478	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.801	0.57586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNQ4	41057733	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.907000	0.55213	0.460000	0.39030	.		0.627	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	Intron	G	41285146	T	G	41285146	5	3	644	1	0	0	0	0	0	0	1	0	8087	1710	59	5	854	5	KCNQ4	1	41285146	Splice_Site	SNP	T	TCGA-F9-A97G-01A-11D-A382-10	5934514	41285146	207965475	4	35041											
PIK3R3	8503	hgsc.bcm.edu	37	1	46532743	46532743	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr1:46532743delA	ENST00000262741.5	-	4	1024	c.335delT	c.(334-336)ttafs	p.L112fs	PIK3R3_ENST00000372006.1_Frame_Shift_Del_p.L112fs|PIK3R3_ENST00000340332.6_Frame_Shift_Del_p.L76fs|PIK3R3_ENST00000420542.1_Frame_Shift_Del_p.L112fs|PIK3R3_ENST00000540385.1_Frame_Shift_Del_p.L158fs|PIK3R3_ENST00000354242.4_Frame_Shift_Del_p.L112fs|PIK3R3_ENST00000423209.1_Frame_Shift_Del_p.L112fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	112	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	GATCTTTATTAACTTATTATT	0.388																																																0													166	158	161					1																	46532743		2203	4300	6503	SO:0001589	frameshift_variant	8503			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.335delT	chr1.hg19:g.46532743delA	ENSP00000262741:p.Leu112fs		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Frame_Shift_Del	DEL	ENST00000262741.5	hg19	CCDS529.1																																																																																				0.388	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		-	46532743	A	-	46532743	7	5	644	1	0	1	0	1	0	0	0	0	11922	372	13	0	1078	0	PIK3R3	1	46532743	Frame_Shift_Del	DEL	A	TCGA-F9-A97G-01A-11D-A382-10	5247597	46532743	202717878	5	35042											
TBX15	6913	hgsc.bcm.edu	37	1	119427569	119427569	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr1:119427569G>A	ENST00000369429.3	-	8	1604	c.1595C>T	c.(1594-1596)cCg>cTg	p.P532L	TBX15_ENST00000207157.3_Missense_Mutation_p.P426L			Q96SF7	TBX15_HUMAN	T-box 15	532					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAGTTTTTCCGGGCTTGCAGC	0.537																																																0													92	85	87					1																	119427569		2203	4300	6503	SO:0001583	missense	6913			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1595C>T	chr1.hg19:g.119427569G>A	ENSP00000358437:p.Pro532Leu		Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	hg19		.	.	.	.	.	.	.	.	.	.	G	22.0	4.237026	0.79800	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	D;D;D	0.92099	-2.92;-2.97;-1.78	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000015	D	0.93223	0.7841	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.981;0.999	D	0.93973	0.7251	10	0.87932	D	0	.	19.143	0.93452	0.0:0.0:1.0:0.0	.	329;532	E9PCG3;Q96SF7	.;TBX15_HUMAN	L	329;426;532;260	ENSP00000207157:P426L;ENSP00000358437:P532L;ENSP00000398625:P260L	ENSP00000207157:P426L	P	-	2	0	TBX15	119229092	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.080000	0.94040	2.764000	0.94973	0.555000	0.69702	CCG		0.537	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		A	119427569	G	A	119427569	3	1	644	1	0	0	0	0	1	0	0	0	15657	1116	39	1	217	1	TBX15	1	119427569	Missense_Mutation	SNP	G	TCGA-F9-A97G-01A-11D-A382-10	72894826	119427569	129823052	6	35043											
LHX4	89884	hgsc.bcm.edu	37	1	180240574	180240575	+	Missense_Mutation	DNP	AC	AC	GT			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr1:180240574_180240575AC>GT	ENST00000263726.2	+	4	755_756	c.511_512AC>GT	c.(511-513)ACa>GTa	p.T171V	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	171					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCAGCTGGAGACATTAAAGAAT	0.569																																																0																																										SO:0001583	missense	89884			AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"Homeoboxes / LIM class"	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	Exception_encountered	chr1.hg19:g.180240574_180240575delinsGT	ENSP00000263726:p.Thr171Val		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	hg19	CCDS1338.1																																																																																				0.569	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		GT	180240575	AC	GT	180240574	3	3	644	1	0	0	0	0	1	0	0	0	8775	275	10	3	525	3	LHX4	1	180240574	Missense_Mutation	DNP	AC	TCGA-F9-A97G-01A-11D-A382-10	60813005	180240574	69010047	7	35044											
HSD11B1	3290	hgsc.bcm.edu	37	1	209880345	209880347	+	In_Frame_Del	DEL	ATG	ATG	-	rs578197035		TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	ATG	ATG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr1:209880345_209880347delATG	ENST00000367028.2	+	5	558_560	c.389_391delATG	c.(388-393)catgat>cat	p.D132del	HSD11B1_ENST00000367027.3_In_Frame_Del_p.D132del|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_In_Frame_Del_p.D132del	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	132					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	AATCTTTTTCATGATGATATTCA	0.443																																																0																																										SO:0001651	inframe_deletion	3290			BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5208	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 26C, member 1"	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.389_391delATG	chr1.hg19:g.209880348_209880350delATG	ENSP00000355995:p.Asp132del		B2R9Z1|D3DT89	In_Frame_Del	DEL	ENST00000367028.2	hg19	CCDS1489.1																																																																																				0.443	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		-	209880347	ATG	-	209880345	7	5	644	1	0	1	0	1	0	0	0	0	7377	217	8	0	403	0	HSD11B1	1	209880345	In_Frame_Del	DEL	ATG	TCGA-F9-A97G-01A-11D-A382-10	29639771	209880345	39370276	8	35045											
PLD5	200150	hgsc.bcm.edu	37	1	242511425	242511426	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr1:242511425_242511426insT	ENST00000536534.2	-	2	549_550	c.308_309insA	c.(307-309)aatfs	p.N103fs	PLD5_ENST00000442594.2_Frame_Shift_Ins_p.I9fs|PLD5_ENST00000427495.1_Frame_Shift_Ins_p.N41fs			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	103						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TATTTTGGCAATTTTTTTCTGA	0.446																																																0																																										SO:0001589	frameshift_variant	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.309dupA	chr1.hg19:g.242511432_242511432dupT	ENSP00000440896:p.Asn103fs		A1KXV0|B7Z324|Q494U9|Q8NB22	Frame_Shift_Ins	INS	ENST00000536534.2	hg19	CCDS1621.2																																																																																				0.446	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		T	242511426	-	T	242511425	7	5	644	1	0	1	1	0	0	0	0	0	12051	101	4	0	1344	0	PLD5	1	242511425	Frame_Shift_Ins	INS	-	TCGA-F9-A97G-01A-11D-A382-10	32631080	242511425	6739196	9	35046											
C2orf29	55571	hgsc.bcm.edu	37	2	101883275	101883275	+	Missense_Mutation	SNP	T	T	C			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr2:101883275T>C	ENST00000289382.3	+	5	1335	c.1172T>C	c.(1171-1173)aTc>aCc	p.I391T		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	391					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											TCAAGCCAGATCACTGAGTAT	0.403																																																0													184	175	178					2																	101883275		2203	4300	6503	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1172T>C	chr2.hg19:g.101883275T>C	ENSP00000289382:p.Ile391Thr		Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	hg19	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749354	0.89753	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83741	0.5320	M	0.87456	2.885	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	D	0.86389	0.1734	9	0.66056	D	0.02	-28.9136	16.4237	0.83790	0.0:0.0:0.0:1.0	.	391	Q9UKZ1	CB029_HUMAN	T	391	.	ENSP00000289382:I391T	I	+	2	0	C2orf29	101249707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.279000	0.76181	0.533000	0.62120	ATC		0.403	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		C	101883275	T	C	101883275	3	2	644	1	0	0	0	0	1	0	0	0	2163	1435	50	3	1190	3	C2orf29	2	101883275	Missense_Mutation	SNP	T	TCGA-F9-A97G-01A-11D-A382-10		101883275	141316098	10	35047											
LRP1B	53353	hgsc.bcm.edu	37	2	141272299	141272299	+	Missense_Mutation	SNP	T	T	G			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr2:141272299T>G	ENST00000389484.3	-	51	9163	c.8192A>C	c.(8191-8193)aAa>aCa	p.K2731T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2731	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAAATACATTTTTGTGCGGA	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													110	103	105					2																	141272299		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8192A>C	chr2.hg19:g.141272299T>G	ENSP00000374135:p.Lys2731Thr		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994775	0.74703	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.40225	1.04	5.53	5.53	0.82687	.	0.000000	0.85682	U	0.000000	T	0.42698	0.1214	L	0.41573	1.285	0.42388	D	0.992517	P	0.43938	0.822	P	0.50270	0.636	T	0.19745	-1.0296	10	0.21014	T	0.42	.	11.074	0.48021	0.0:0.0724:0.0:0.9276	.	2731	Q9NZR2	LRP1B_HUMAN	T	2731;2669	ENSP00000374135:K2731T	ENSP00000374135:K2731T	K	-	2	0	LRP1B	140988769	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.870000	0.56070	2.219000	0.72066	0.533000	0.62120	AAA		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		G	141272299	T	G	141272299	3	3	644	1	0	0	0	0	1	0	0	0	8957	1841	64	5	5771	5	LRP1B	2	141272299	Missense_Mutation	SNP	T	TCGA-F9-A97G-01A-11D-A382-10	39389024	141272299	101927074	11	35048											
RQCD1	9125	hgsc.bcm.edu	37	2	219449436	219449436	+	Missense_Mutation	SNP	G	G	C			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr2:219449436G>C	ENST00000273064.6	+	4	797	c.422G>C	c.(421-423)gGa>gCa	p.G141A	RQCD1_ENST00000295701.5_Missense_Mutation_p.G141A|RQCD1_ENST00000509807.2_Missense_Mutation_p.G141A|RQCD1_ENST00000542068.1_Missense_Mutation_p.G141A	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	141					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAGCCTTGGAGTTATTGGT	0.428																																																0													179	184	182					2																	219449436		2203	4300	6503	SO:0001583	missense	9125			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"cancer/testis antigen 129"	612054	"rcd1 (required for cell differentiation, S.pombe) homolog 1"			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.422G>C	chr2.hg19:g.219449436G>C	ENSP00000273064:p.Gly141Ala		B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	hg19	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123662	0.94429	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91918	0.7441	H	0.98133	4.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.94738	0.7916	10	0.87932	D	0	-1.8573	19.1489	0.93479	0.0:0.0:1.0:0.0	.	141;141;141	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	A	141	ENSP00000273064:G141A;ENSP00000441357:G141A;ENSP00000443687:G141A;ENSP00000295701:G141A	ENSP00000273064:G141A	G	+	2	0	RQCD1	219157680	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.613000	0.98350	2.587000	0.87381	0.563000	0.77884	GGA		0.428	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		C	219449436	G	C	219449436	3	2	644	1	0	0	0	0	1	0	0	0	13676	1174	41	4	436	4	RQCD1	2	219449436	Missense_Mutation	SNP	G	TCGA-F9-A97G-01A-11D-A382-10	78177137	219449436	23749937	12	35049											
FLNB	2317	hgsc.bcm.edu	37	3	58107208	58107208	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr3:58107208C>T	ENST00000295956.4	+	20	3269	c.3104C>T	c.(3103-3105)tCg>tTg	p.S1035L	FLNB_ENST00000429972.2_Missense_Mutation_p.S1035L|FLNB_ENST00000490882.1_Missense_Mutation_p.S1035L|FLNB_ENST00000493452.1_Missense_Mutation_p.S866L|FLNB_ENST00000348383.5_Missense_Mutation_p.S1035L|FLNB_ENST00000358537.3_Missense_Mutation_p.S1035L|FLNB_ENST00000357272.4_Missense_Mutation_p.S1035L|FLNB_ENST00000419752.2_Missense_Mutation_p.S866L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1035					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGGAGGCCTCGCTGCCACCA	0.567																																																0													95	100	98					3																	58107208		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3104C>T	chr3.hg19:g.58107208C>T	ENSP00000295956:p.Ser1035Leu		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	hg19	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069850	0.36566	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Immunoglobulin E-set (2);	0.492477	0.22519	N	0.058991	T	0.22742	0.0549	N	0.02368	-0.58	0.33978	D	0.647678	B;B;B;B;B;B	0.31290	0.26;0.002;0.205;0.0;0.318;0.318	B;B;B;B;B;B	0.28465	0.039;0.001;0.09;0.002;0.028;0.028	T	0.23048	-1.0199	10	0.25106	T	0.35	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	1035;1035;866;866;1035;1035	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	L	1035;1035;1035;1035;1035;1035;866;866	ENSP00000295956:S1035L;ENSP00000420213:S1035L;ENSP00000351339:S1035L;ENSP00000415599:S1035L;ENSP00000232447:S1035L;ENSP00000349819:S1035L;ENSP00000418510:S866L;ENSP00000414532:S866L	ENSP00000295956:S1035L	S	+	2	0	FLNB	58082248	0.587000	0.26791	0.985000	0.45067	0.891000	0.51852	1.928000	0.40104	2.780000	0.95670	0.655000	0.94253	TCG		0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		T	58107208	C	T	58107208	3	4	644	1	0	0	0	0	1	0	0	0	5936	893	31	1	3182	1	FLNB	3	58107208	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10		58107208	139915222	13	35050											
C3orf15	89876	hgsc.bcm.edu	37	3	119449132	119449132	+	Missense_Mutation	SNP	A	A	C			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr3:119449132A>C	ENST00000273390.5	+	8	1003	c.926A>C	c.(925-927)gAa>gCa	p.E309A		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	309						mitochondrion (GO:0005739)											AATCAGAATGAAGTGAATATG	0.413																																																0													183	187	185					3																	119449132		2203	4300	6503	SO:0001583	missense	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.926A>C	chr3.hg19:g.119449132A>C	ENSP00000273390:p.Glu309Ala		A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	hg19	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266006	0.80358	.	.	ENSG00000183833	ENST00000273390	T	0.23348	1.91	5.2	4.04	0.47022	.	0.399793	0.31821	N	0.007011	T	0.43500	0.1250	M	0.64676	1.99	0.80722	D	1	D;D;D;D;D	0.76494	0.986;0.991;0.967;0.999;0.998	P;D;P;D;D	0.70935	0.888;0.94;0.813;0.971;0.941	T	0.24404	-1.0161	10	0.41790	T	0.15	-18.7701	10.645	0.45615	0.9244:0.0:0.0756:0.0	.	309;70;247;309;309	Q7Z4T9;Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.;.	A	309	ENSP00000273390:E309A	ENSP00000273390:E309A	E	+	2	0	C3orf15	120931822	1.000000	0.71417	0.981000	0.43875	0.856000	0.48823	4.480000	0.60243	2.080000	0.62538	0.455000	0.32223	GAA		0.413	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		C	119449132	A	C	119449132	3	2	644	1	0	0	0	0	1	0	0	0	2211	246	9	5	956	5	C3orf15	3	119449132	Missense_Mutation	SNP	A	TCGA-F9-A97G-01A-11D-A382-10	61341924	119449132	78573298	14	35051											
MRPL3	11222	hgsc.bcm.edu	37	3	131188617	131188617	+	Splice_Site	SNP	C	C	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr3:131188617C>T	ENST00000264995.3	-	8	886	c.739G>A	c.(739-741)Gat>Aat	p.D247N	MRPL3_ENST00000425847.2_Splice_Site_p.D274N	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	247					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTGCCAATATCCTAAATGAGA	0.308																																																0													89	81	84					3																	131188617		2203	4300	6503	SO:0001630	splice_region_variant	11222			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.739-1G>A	chr3.hg19:g.131188617C>T			Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	hg19	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917664	0.73098	.	.	ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000507669	T;T;T	0.44482	0.92;0.92;0.92	5.23	5.23	0.72850	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.090336	0.85682	D	0.000000	T	0.52240	0.1722	M	0.71581	2.175	0.58432	D	0.999997	B;B	0.25521	0.128;0.054	B;B	0.41174	0.349;0.245	T	0.56553	-0.7960	10	0.66056	D	0.02	-15.691	11.8044	0.52145	0.0:0.9145:0.0:0.0855	.	274;247	E7ETU7;P09001	.;RM03_HUMAN	N	247;274;142	ENSP00000264995:D247N;ENSP00000398536:D274N;ENSP00000422419:D142N	ENSP00000264995:D247N	D	-	1	0	MRPL3	132671307	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.794000	0.55492	2.435000	0.82474	0.650000	0.86243	GAT		0.308	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208	Missense_Mutation	T	131188617	C	T	131188617	5	4	644	1	0	0	0	0	0	0	1	0	9795	869	30	2	319	2	MRPL3	3	131188617	Splice_Site	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	11739485	131188617	66833813	15	35052											
PLCH1	23007	hgsc.bcm.edu	37	3	155199731	155199731	+	Missense_Mutation	SNP	A	A	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr3:155199731A>T	ENST00000340059.7	-	23	4107	c.4108T>A	c.(4108-4110)Tct>Act	p.S1370T	PLCH1_ENST00000414191.1_Missense_Mutation_p.S1332T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1332T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1332T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1370					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTGTTAGAGAAAGATTTTCT	0.433																																																0													44	48	47					3																	155199731		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4108T>A	chr3.hg19:g.155199731A>T	ENSP00000345988:p.Ser1370Thr		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	hg19	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	A	6.129	0.392091	0.11581	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.47	1.81	0.25067	.	1.843090	0.02242	N	0.065897	T	0.64371	0.2592	L	0.27053	0.805	0.23386	N	0.997788	P;B	0.36837	0.571;0.435	B;B	0.35770	0.21;0.104	T	0.54029	-0.8354	10	0.33940	T	0.23	.	8.7404	0.34554	0.7078:0.0:0.2922:0.0	.	1332;1370	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	T	1332;1370;1332;1332	ENSP00000417502:S1332T;ENSP00000345988:S1370T;ENSP00000335469:S1332T;ENSP00000412977:S1332T	ENSP00000335469:S1332T	S	-	1	0	PLCH1	156682425	0.976000	0.34144	0.176000	0.23000	0.280000	0.26924	0.788000	0.26872	0.364000	0.24374	0.477000	0.44152	TCT		0.433	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		T	155199731	A	T	155199731	3	4	644	1	0	0	0	0	1	0	0	0	12039	246	9	5	977	5	PLCH1	3	155199731	Missense_Mutation	SNP	A	TCGA-F9-A97G-01A-11D-A382-10	24011114	155199731	42822699	16	35053											
PHC3	80012	hgsc.bcm.edu	37	3	169831155	169831155	+	Silent	SNP	A	A	T	rs532102572		TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr3:169831155A>T	ENST00000494943.1	-	11	2378	c.2310T>A	c.(2308-2310)atT>atA	p.I770I	PHC3_ENST00000467570.1_Silent_p.I729I|PHC3_ENST00000495893.2_Silent_p.I782I			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	770					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AACCTTCAGCAATCATGTCTT	0.353													A|||	1	0.000199681	0.0	0.0	5008	,	,		18415	0.001		0.0	False		,,,				2504	0.0															0													89	82	85					3																	169831155		1852	4098	5950	SO:0001819	synonymous_variant	80012				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2310T>A	chr3.hg19:g.169831155A>T			A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	ENST00000494943.1	hg19																																																																																					0.353	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		T	169831155	A	T	169831155	2	4	644	1	0	0	0	0	0	0	0	1	11820	126	5	5		5	PHC3	3	169831155	Silent	SNP	A	TCGA-F9-A97G-01A-11D-A382-10	14631424	169831155	28191275	17	35054											
PDE6B	5158	hgsc.bcm.edu	37	4	651194	651194	+	Missense_Mutation	SNP	A	A	C			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr4:651194A>C	ENST00000496514.1	+	10	1333	c.1312A>C	c.(1312-1314)Atg>Ctg	p.M438L	PDE6B_ENST00000255622.6_Missense_Mutation_p.M438L|PDE6B_ENST00000429163.2_Missense_Mutation_p.M159L|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	438					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CTACGACAAGATGAACAAGCT	0.612																																					GBM(71;463 1194 9848 25922 46834)											0													198	119	146					4																	651194		2203	4300	6503	SO:0001583	missense	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1312A>C	chr4.hg19:g.651194A>C	ENSP00000420295:p.Met438Leu		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	hg19	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629272	0.46944	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.66995	-0.24;-0.24;-0.24	4.85	4.85	0.62838	GAF (1);	0.117165	0.85682	N	0.000000	T	0.64011	0.2560	M	0.67569	2.06	0.51482	D	0.999924	B;B	0.16802	0.011;0.019	B;B	0.23275	0.02;0.045	T	0.60835	-0.7184	10	0.30078	T	0.28	.	12.3767	0.55283	1.0:0.0:0.0:0.0	.	438;438	P35913;P35913-2	PDE6B_HUMAN;.	L	438;438;159	ENSP00000255622:M438L;ENSP00000420295:M438L;ENSP00000406334:M159L	ENSP00000255622:M438L	M	+	1	0	PDE6B	641194	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.760000	0.62235	1.804000	0.52760	0.367000	0.22151	ATG		0.612	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		C	651194	A	C	651194	3	2	644	1	0	0	0	0	1	0	0	0	11648	333	12	5	1350	5	PDE6B	4	651194	Missense_Mutation	SNP	A	TCGA-F9-A97G-01A-11D-A382-10		651194	190503082	18	35055											
SLC26A1	10861	hgsc.bcm.edu	37	4	982757	982759	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr4:982757_982759delAGA	ENST00000361661.2	-	4	2345_2347	c.1968_1970delTCT	c.(1966-1971)attctg>atg	p.656_657IL>M	IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000398516.2_In_Frame_Del_p.656_657IL>M|IDUA_ENST00000509744.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	656	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCTCTGCTCAGAATGTCTCTCA	0.68																																																0																																										SO:0001651	inframe_deletion	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1968_1970delTCT	chr4.hg19:g.982757_982759delAGA	ENSP00000354721:p.Ile656_Leu657delinsMet		A8K9N2|Q7Z5R3|Q96BK0	In_Frame_Del	DEL	ENST00000361661.2	hg19	CCDS33934.1																																																																																				0.68	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		-	982759	AGA	-	982757	7	5	644	1	0	1	0	1	0	0	0	0	14520	188	7	0	242	0	SLC26A1	4	982757	In_Frame_Del	DEL	AGA	TCGA-F9-A97G-01A-11D-A382-10	331563	982757	190171519	19	35056											
HGFAC	3083	hgsc.bcm.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G	rs538844201	byFrequency	TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13350	0.0		0.0	False		,,,				2504	0.001															0													13	16	15					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	chr4.hg19:g.3443797C>G			Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	hg19	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			G	3443797	C	G	3443797	2	3	644	1	0	0	0	0	0	0	0	1	7088	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	2461040	3443797	187710479	20	35057											
LNX1	84708	hgsc.bcm.edu	37	4	54362470	54362470	+	Missense_Mutation	SNP	C	C	A			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr4:54362470C>A	ENST00000263925.7	-	6	1384	c.1070G>T	c.(1069-1071)cGt>cTt	p.R357L	FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000502373.1_RNA|LNX1_ENST00000306888.2_Missense_Mutation_p.R261L	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	357	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTCTGTTCACGCATCACAGT	0.577																																																0													51	52	51					4																	54362470		2203	4300	6503	SO:0001583	missense	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1070G>T	chr4.hg19:g.54362470C>A	ENSP00000263925:p.Arg357Leu		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	hg19	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537618	0.85917	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.13196	2.61;4.1	5.29	5.29	0.74685	PDZ/DHR/GLGF (3);	0.070422	0.64402	D	0.000001	T	0.53417	0.1795	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.927;0.99	T	0.68961	-0.5271	10	0.87932	D	0	.	19.1278	0.93393	0.0:1.0:0.0:0.0	.	357;261	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	L	261;195;357	ENSP00000302879:R261L;ENSP00000263925:R357L	ENSP00000263925:R357L	R	-	2	0	LNX1	54057227	1.000000	0.71417	0.941000	0.38009	0.547000	0.35210	7.320000	0.79064	2.756000	0.94617	0.561000	0.74099	CGT		0.577	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			A	54362470	C	A	54362470	3	1	644	1	0	0	0	0	1	0	0	0	8867	536	19	4	1140	4	LNX1	4	54362470	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	50918673	54362470	136791806	21	35058											
CENPE	1062	hgsc.bcm.edu	37	4	104116296	104116296	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr4:104116296G>A	ENST00000265148.3	-	5	541	c.452C>T	c.(451-453)cCt>cTt	p.P151L	CENPE_ENST00000380026.3_Missense_Mutation_p.P151L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	151	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AATAATTAAAGGTTTCATTTT	0.318																																																0													98	100	99					4																	104116296		2203	4291	6494	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.452C>T	chr4.hg19:g.104116296G>A	ENSP00000265148:p.Pro151Leu		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	hg19	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827249	0.90955	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.75154	-0.91;-0.91;-0.91	5.94	5.94	0.96194	Kinesin, motor domain (4);	.	.	.	.	D	0.83133	0.5188	L	0.55017	1.72	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.72338	0.919;0.977	D	0.83582	0.0118	9	0.66056	D	0.02	.	15.5001	0.75691	0.0677:0.0:0.9323:0.0	.	151;151	Q02224-3;Q02224	.;CENPE_HUMAN	L	151	ENSP00000265148:P151L;ENSP00000369365:P151L;ENSP00000423981:P151L	ENSP00000265148:P151L	P	-	2	0	CENPE	104335745	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.966000	0.93397	2.820000	0.97059	0.650000	0.86243	CCT		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				A	104116296	G	A	104116296	3	1	644	1	0	0	0	0	1	0	0	0	3232	1000	35	2	7833	2	CENPE	4	104116296	Missense_Mutation	SNP	G	TCGA-F9-A97G-01A-11D-A382-10	49753826	104116296	87037980	22	35059											
MTRR	4552	hgsc.bcm.edu	37	5	7897216	7897229	+	Frame_Shift_Del	DEL	CTCATCTAAAGGTT	CTCATCTAAAGGTT	-	rs114259126	byFrequency	TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	CTCATCTAAAGGTT	CTCATCTAAAGGTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr5:7897216_7897229delCTCATCTAAAGGTT	ENST00000264668.2	+	14	1919_1932	c.1889_1902delCTCATCTAAAGGTT	c.(1888-1902)actcatctaaaggttfs	p.THLKV630fs	MTRR_ENST00000440940.2_Frame_Shift_Del_p.THLKV603fs	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	630					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GGGATCTTAACTCATCTAAAGGTTTCCTTCTCAA	0.43																																																0																																										SO:0001589	frameshift_variant	4552			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1889_1902delCTCATCTAAAGGTT	chr5.hg19:g.7897216_7897229delCTCATCTAAAGGTT	ENSP00000264668:p.Thr630fs		O60471|Q32MA9|Q7Z4M8	Frame_Shift_Del	DEL	ENST00000264668.2	hg19	CCDS3874.1																																																																																				0.43	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			-	7897229	CTCATCTAAAGGTT	-	7897216	7	5	644	1	0	1	0	1	0	0	0	0	9963	565	20	0	1943	0	MTRR	5	7897216	Frame_Shift_Del	DEL	CTCATCTAAAGGTT	TCGA-F9-A97G-01A-11D-A382-10		7897216	173018044	23	35060											
PCSK1	5122	hgsc.bcm.edu	37	5	95759058	95759058	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr5:95759058C>T	ENST00000311106.3	-	4	739	c.502G>A	c.(502-504)Gat>Aat	p.D168N	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.D121N	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	168	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCCAAACCATCATCCAGTACG	0.488																																																0													188	138	155					5																	95759058		2203	4300	6503	SO:0001583	missense	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.502G>A	chr5.hg19:g.95759058C>T	ENSP00000308024:p.Asp168Asn		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	hg19	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765100	0.96906	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.88277	-2.36;-2.36	5.91	5.91	0.95273	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95088	0.8219	10	0.87932	D	0	-30.7254	19.8855	0.96910	0.0:1.0:0.0:0.0	.	168	P29120	NEC1_HUMAN	N	168;121	ENSP00000308024:D168N;ENSP00000421600:D121N	ENSP00000308024:D168N	D	-	1	0	PCSK1	95784814	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.796000	0.96246	0.655000	0.94253	GAT		0.488	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		T	95759058	C	T	95759058	3	4	644	1	0	0	0	0	1	0	0	0	11602	826	29	2	1803	2	PCSK1	5	95759058	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	87861842	95759058	85156202	24	35061											
FBN2	2201	hgsc.bcm.edu	37	5	127636522	127636522	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr5:127636522delG	ENST00000508053.1	-	54	7127	c.6153delC	c.(6151-6153)agcfs	p.S2051fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.S2051fs			P35556	FBN2_HUMAN	fibrillin 2	2051	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCAGTTCTCGCTTTTTACTT	0.463																																																0													122	113	116					5																	127636522		2203	4300	6503	SO:0001589	frameshift_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6153delC	chr5.hg19:g.127636522delG	ENSP00000424571:p.Ser2051fs		B4DU01|Q59ES6	Frame_Shift_Del	DEL	ENST00000508053.1	hg19	CCDS34222.1																																																																																				0.463	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		-	127636522	G	-	127636522	7	5	644	1	0	1	0	1	0	0	0	0	5705	1078	38	0	2657	0	FBN2	5	127636522	Frame_Shift_Del	DEL	G	TCGA-F9-A97G-01A-11D-A382-10	31877464	127636522	53278738	25	35062											
EGR1	1958	hgsc.bcm.edu	37	5	137801684	137801684	+	Missense_Mutation	SNP	C	C	G			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr5:137801684C>G	ENST00000239938.4	+	1	506	c.234C>G	c.(232-234)aaC>aaG	p.N78K		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	78	Gly/Ser-rich.				BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			gcggcagcaacagcagcagca	0.726																																																0													11	11	11					5																	137801684		2140	4182	6322	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.234C>G	chr5.hg19:g.137801684C>G	ENSP00000239938:p.Asn78Lys			Missense_Mutation	SNP	ENST00000239938.4	hg19	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504003	0.26949	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.07908	3.15	3.78	3.78	0.43462	.	0.356279	0.23859	N	0.043878	T	0.04679	0.0127	N	0.08118	0	0.22903	N	0.99859	B;B	0.17038	0.02;0.001	B;B	0.10450	0.005;0.002	T	0.35101	-0.9802	10	0.41790	T	0.15	.	10.9732	0.47450	0.0:1.0:0.0:0.0	.	78;78	B4DNX4;P18146	.;EGR1_HUMAN	K	78	ENSP00000239938:N78K	ENSP00000239938:N78K	N	+	3	2	EGR1	137829583	0.999000	0.42202	0.971000	0.41717	0.651000	0.38670	0.504000	0.22626	1.932000	0.55993	0.561000	0.74099	AAC		0.726	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		G	137801684	C	G	137801684	3	3	644	1	0	0	0	0	1	0	0	0	4973	477	17	4	236	4	EGR1	5	137801684	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	10165162	137801684	43113576	26	35063											
HECW1	23072	hgsc.bcm.edu	37	7	43547666	43547672	+	Frame_Shift_Del	DEL	ATGGCCT	ATGGCCT	-	rs142279539	byFrequency	TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	ATGGCCT	ATGGCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr7:43547666_43547672delATGGCCT	ENST00000395891.2	+	23	4407_4413	c.3802_3808delATGGCCT	c.(3802-3810)atggcctatfs	p.MAY1268fs	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Frame_Shift_Del_p.MAY1234fs	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1268					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAATCAGGTGATGGCCTATTCGCGGAA	0.536																																																0																																										SO:0001589	frameshift_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3802_3808delATGGCCT	chr7.hg19:g.43547666_43547672delATGGCCT	ENSP00000379228:p.Met1268fs		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Frame_Shift_Del	DEL	ENST00000395891.2	hg19	CCDS5469.2																																																																																				0.536	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		-	43547672	ATGGCCT	-	43547666	7	5	644	1	0	1	0	1	0	0	0	0	7044	333	12	0	3884	0	HECW1	7	43547666	Frame_Shift_Del	DEL	ATGGCCT	TCGA-F9-A97G-01A-11D-A382-10		43547666	115590997	27	35064											
GUSB	2990	hgsc.bcm.edu	37	7	65441077	65441077	+	Silent	SNP	T	T	C			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr7:65441077T>C	ENST00000304895.4	-	5	967	c.837A>G	c.(835-837)caA>caG	p.Q279Q	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Silent_p.Q279Q	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	279					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GCACCTTAAGTTGGCCCTGGG	0.527																																																0													82	68	73					7																	65441077		2203	4300	6503	SO:0001819	synonymous_variant	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.837A>G	chr7.hg19:g.65441077T>C			B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	ENST00000304895.4	hg19	CCDS5530.1																																																																																				0.527	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		C	65441077	T	C	65441077	2	2	644	1	0	0	0	0	0	0	0	1	6904	1722	60	3		3	GUSB	7	65441077	Silent	SNP	T	TCGA-F9-A97G-01A-11D-A382-10	21893411	65441077	93697586	28	35065											
YWHAG	7532	hgsc.bcm.edu	37	7	75959110	75959110	+	Silent	SNP	A	A	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr7:75959110A>T	ENST00000307630.3	-	2	750	c.528T>A	c.(526-528)gcT>gcA	p.A176A		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	176					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						AGTAGTTAAGAGCCAGGCCTA	0.602																																																0													167	165	165					7																	75959110		2203	4300	6503	SO:0001819	synonymous_variant	7532			AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"14-3-3 gamma", "protein phosphatase 1, regulatory subunit 170"	605356	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.528T>A	chr7.hg19:g.75959110A>T			O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Silent	SNP	ENST00000307630.3	hg19	CCDS5584.1																																																																																				0.602	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		T	75959110	A	T	75959110	2	4	644	1	0	0	0	0	0	0	0	1	17508	291	11	5		5	YWHAG	7	75959110	Silent	SNP	A	TCGA-F9-A97G-01A-11D-A382-10	10518033	75959110	83179553	29	35066											
GPR37	2861	hgsc.bcm.edu	37	7	124387082	124387082	+	Missense_Mutation	SNP	A	A	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr7:124387082A>T	ENST00000303921.2	-	2	1989	c.1339T>A	c.(1339-1341)Ttt>Att	p.F447I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	447					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAACAGCCAAAATACCACCAC	0.488																																																0													163	137	146					7																	124387082		2203	4300	6503	SO:0001583	missense	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1339T>A	chr7.hg19:g.124387082A>T	ENSP00000306449:p.Phe447Ile		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	hg19	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631183	0.87660	.	.	ENSG00000170775	ENST00000303921	T	0.71579	-0.58	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	D	0.83403	0.5247	M	0.75615	2.305	0.58432	D	0.999999	D	0.71674	0.998	D	0.75020	0.985	D	0.85537	0.1213	10	0.87932	D	0	-24.2797	15.205	0.73173	1.0:0.0:0.0:0.0	.	447	O15354	GPR37_HUMAN	I	447	ENSP00000306449:F447I	ENSP00000306449:F447I	F	-	1	0	GPR37	124174318	1.000000	0.71417	0.817000	0.32601	0.986000	0.74619	9.339000	0.96797	2.179000	0.69175	0.533000	0.62120	TTT		0.488	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		T	124387082	A	T	124387082	3	4	644	1	0	0	0	0	1	0	0	0	6693	14	1	5	506	5	GPR37	7	124387082	Missense_Mutation	SNP	A	TCGA-F9-A97G-01A-11D-A382-10	48427972	124387082	34751581	30	35067											
PODXL	5420	hgsc.bcm.edu	37	7	131241055	131241055	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr7:131241055A>G	ENST00000378555.3	-	1	311	c.64T>C	c.(64-66)Tcg>Ccg	p.S22P	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_Missense_Mutation_p.S22P|PODXL_ENST00000537928.1_Missense_Mutation_p.S22P|PODXL_ENST00000541194.1_Missense_Mutation_p.S22P			O00592	PODXL_HUMAN	podocalyxin-like	22					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					gacggcgacgacggcagcagc	0.741																																																0													5	8	7					7																	131241055		1914	3836	5750	SO:0001583	missense	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.64T>C	chr7.hg19:g.131241055A>G	ENSP00000367817:p.Ser22Pro		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	hg19	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	A	10.93	1.488975	0.26686	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000378555;ENST00000322985	T;T;T;T	0.12774	2.82;2.65;2.82;2.85	.	.	.	.	7739.210000	0.00166	U	0.000000	T	0.08670	0.0215	N	0.14661	0.345	0.09310	N	0.999994	.	.	.	.	.	.	T	0.24728	-1.0152	6	0.29301	T	0.29	.	.	.	.	.	22;22	O00592-2;O00592	.;PODXL_HUMAN	P	22	ENSP00000440518:S22P;ENSP00000442655:S22P;ENSP00000367817:S22P;ENSP00000319782:S22P	ENSP00000319782:S22P	S	-	1	0	PODXL	130891595	0.001000	0.12720	0.027000	0.17364	0.027000	0.11550	0.743000	0.26231	0.056000	0.16144	0.055000	0.15244	TCG		0.741	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		G	131241055	A	G	131241055	3	3	644	1	0	0	0	0	1	0	0	0	12182	275	10	3	1648	3	PODXL	7	131241055	Missense_Mutation	SNP	A	TCGA-F9-A97G-01A-11D-A382-10	6853973	131241055	27897608	31	35068											
PPP1R16A	84988	hgsc.bcm.edu	37	8	145726945	145726945	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr8:145726945G>T	ENST00000292539.4	+	11	2163	c.1246G>T	c.(1246-1248)Ggg>Tgg	p.G416W	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.G416W|CTD-2517M22.14_ENST00000532766.1_RNA|GPT_ENST00000394955.2_5'Flank|CTD-2517M14.5_ENST00000569326.1_RNA|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	416						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGCCGAGTAGGGGGCTCCCC	0.657																																																0													28	25	26					8																	145726945		2184	4283	6467	SO:0001583	missense	84988				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1246G>T	chr8.hg19:g.145726945G>T	ENSP00000292539:p.Gly416Trp		D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	hg19	CCDS6429.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.219768|4.219768	0.79464|0.79464	.|.	.|.	ENSG00000160972|ENSG00000160972	ENST00000292539;ENST00000435887|ENST00000528430	T;T|.	0.72615|.	-0.67;-0.67|.	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.940914|.	0.08829|.	N|.	0.887657|.	T|.	0.55226|.	0.1907|.	L|L	0.59436|0.59436	1.845|1.845	0.20403|0.20403	N|N	0.999904|0.999904	D|.	0.67145|.	0.996|.	P|.	0.61658|.	0.892|.	T|.	0.49234|.	-0.8961|.	10|.	0.72032|.	D|.	0.01|.	.|.	14.6431|14.6431	0.68739|0.68739	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	416|.	Q96I34|.	PP16A_HUMAN|.	W|Y	416|83	ENSP00000292539:G416W;ENSP00000391126:G416W|.	ENSP00000292539:G416W|.	G|X	+|+	1|3	0|2	PPP1R16A|PPP1R16A	145697753|145697753	0.824000|0.824000	0.29247|0.29247	0.005000|0.005000	0.12908|0.12908	0.336000|0.336000	0.28762|0.28762	4.023000|4.023000	0.57211|0.57211	2.035000|2.035000	0.60131|0.60131	0.462000|0.462000	0.41574|0.41574	GGG|TAG		0.657	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		T	145726945	G	T	145726945	3	4	644	1	0	0	0	0	1	0	0	0	12370	1000	35	4	1284	4	PPP1R16A	8	145726945	Missense_Mutation	SNP	G	TCGA-F9-A97G-01A-11D-A382-10		145726945	637077	32	35069											
MORN5	254956	hgsc.bcm.edu	37	9	124929084	124929084	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr9:124929084A>G	ENST00000373764.3	+	2	147	c.85A>G	c.(85-87)Aca>Gca	p.T29A	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000536616.1_Missense_Mutation_p.T29A	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	29										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CCCTACCGAAACAATATATGT	0.522																																																0													69	54	59					9																	124929084		2203	4300	6503	SO:0001583	missense	254956			AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 113", "chromosome 9 open reading frame 18"	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.85A>G	chr9.hg19:g.124929084A>G	ENSP00000362869:p.Thr29Ala		B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	hg19	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.688412	0.48097	.	.	ENSG00000185681	ENST00000373764;ENST00000536616;ENST00000418632	T;T;T	0.41758	0.99;0.99;0.99	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	L	0.38692	1.165	0.58432	D	0.999999	P;P;P	0.51057	0.693;0.941;0.751	B;P;P	0.51657	0.223;0.676;0.676	T	0.33650	-0.9860	10	0.44086	T	0.13	-16.1664	12.7975	0.57567	1.0:0.0:0.0:0.0	.	13;29;29	Q5T7S4;B7Z7I5;Q5VZ52	.;.;MORN5_HUMAN	A	29;29;13	ENSP00000362869:T29A;ENSP00000437483:T29A;ENSP00000409949:T13A	ENSP00000362869:T29A	T	+	1	0	MORN5	123968905	1.000000	0.71417	0.336000	0.25522	0.041000	0.13682	8.195000	0.89723	1.914000	0.55421	0.379000	0.24179	ACA		0.522	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469		G	124929084	A	G	124929084	3	3	644	1	0	0	0	0	1	0	0	0	9713	43	2	3	91	3	MORN5	9	124929084	Missense_Mutation	SNP	A	TCGA-F9-A97G-01A-11D-A382-10		124929084	16284347	33	35070											
TTF1	7270	hgsc.bcm.edu	37	9	135277608	135277625	+	In_Frame_Del	DEL	CAGAAAGCCAGGACTCCT	CAGAAAGCCAGGACTCCT	-			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	CAGAAAGCCAGGACTCCT	CAGAAAGCCAGGACTCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr9:135277608_135277625delCAGAAAGCCAGGACTCCT	ENST00000334270.2	-	2	623_640	c.584_601delAGGAGTCCTGGCTTTCTG	c.(583-603)gaggagtcctggctttctgtg>gtg	p.EESWLS195del		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	195	N-terminal region (NRD). {ECO:0000250}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCTGGACCCACAGAAAGCCAGGACTCCTCCTGGTGGGA	0.468																																																0																																										SO:0001651	inframe_deletion	7270			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.584_601delAGGAGTCCTGGCTTTCTG	chr9.hg19:g.135277608_135277625delCAGAAAGCCAGGACTCCT	ENSP00000333920:p.Glu195_Ser200del		A1L160|Q4VXF3|Q58EY2|Q6P5T5	In_Frame_Del	DEL	ENST00000334270.2	hg19	CCDS6948.1																																																																																				0.468	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		-	135277625	CAGAAAGCCAGGACTCCT	-	135277608	7	5	644	1	0	1	0	1	0	0	0	0	16723	478	17	0	2156	0	TTF1	9	135277608	In_Frame_Del	DEL	CAGAAAGCCAGGACTCCT	TCGA-F9-A97G-01A-11D-A382-10	10348524	135277608	5935823	34	35071											
CACNA1B	774	hgsc.bcm.edu	37	9	140918184	140918185	+	Missense_Mutation	DNP	AC	AC	GT	rs145816559|rs370787788	byFrequency	TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr9:140918184_140918185AC>GT	ENST00000371372.1	+	19	3134_3135	c.2989_2990AC>GT	c.(2989-2991)ACg>GTg	p.T997V	CACNA1B_ENST00000277549.5_Missense_Mutation_p.T189V|CACNA1B_ENST00000371367.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T997V|CACNA1B_ENST00000545473.1_5'Flank|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T998V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T998V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T997V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	997					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.T996_E1000delTTEKE(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGGAGACCACGGAGAAGGAG	0.718																																																1	Deletion - In frame(1)	breast(1)																																								SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	Exception_encountered	chr9.hg19:g.140918184_140918185delinsGT	ENSP00000360423:p.Thr997Val		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	hg19	CCDS59522.1																																																																																				0.718	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		GT	140918185	AC	GT	140918184	3	3	644	1	0	0	0	0	1	0	0	0	2541	159	6	3	3063	3	CACNA1B	9	140918184	Missense_Mutation	DNP	AC	TCGA-F9-A97G-01A-11D-A382-10	5640576	140918184	295247	35	35072											
DHDPSL	112817	hgsc.bcm.edu	37	10	99361640	99361640	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr10:99361640G>A	ENST00000370646.4	+	6	1088	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	PI4K2A_ENST00000370649.3_Missense_Mutation_p.A80T|HOGA1_ENST00000370647.4_Missense_Mutation_p.A80T|PI4K2A_ENST00000555577.1_Missense_Mutation_p.A80T	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	243					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CTGCGCCCTGGCCAATGTCCT	0.637																																																0													39	41	40					10																	99361640		2203	4300	6503	SO:0001583	missense	112817			BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.727G>A	chr10.hg19:g.99361640G>A	ENSP00000359680:p.Ala243Thr		A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	hg19	CCDS7467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.604805|5.604805	0.96626|0.96626	.|.	.|.	ENSG00000241935;ENSG00000241935;ENSG00000155252;ENSG00000249967|ENSG00000241935	ENST00000370647;ENST00000370646;ENST00000555577;ENST00000370649|ENST00000370642	D;D;D;D|.	0.95035|.	-3.59;-3.59;-2.51;-2.51|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Aldolase-type TIM barrel (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84361|0.84361	0.5455|0.5455	M|M	0.89353|0.89353	3.025|3.025	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.993;1.0;1.0|.	D;D;D|.	0.81914|.	0.971;0.995;0.995|.	D|D	0.86967|0.86967	0.2095|0.2095	10|5	0.87932|.	D|.	0|.	-24.1425|-24.1425	18.8138|18.8138	0.92070|0.92070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	80;80;243|.	E9PAM4;Q86XE5-3;Q86XE5|.	.;.;HOGA1_HUMAN|.	T|D	80;243;80;80|46	ENSP00000359681:A80T;ENSP00000359680:A243T;ENSP00000452243:A80T;ENSP00000359683:A80T|.	ENSP00000359680:A243T|.	A|G	+|+	1|2	0|0	PI4K2A;HOGA1;RP11-548K23.11|HOGA1	99351630|99351630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.387000|7.387000	0.79785|0.79785	2.530000|2.530000	0.85305|0.85305	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.637	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		A	99361640	G	A	99361640	3	1	644	1	0	0	0	0	1	0	0	0	4482	1203	42	2	749	2	DHDPSL	10	99361640	Missense_Mutation	SNP	G	TCGA-F9-A97G-01A-11D-A382-10		99361640	36173107	36	35073											
ATRNL1	26033	hgsc.bcm.edu	37	10	117221517	117221517	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr10:117221517C>T	ENST00000355044.3	+	22	3515	c.3389C>T	c.(3388-3390)gCc>gTc	p.A1130V	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Missense_Mutation_p.A181V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1130					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CACCATACTGCCATAAACTTT	0.313																																																0													121	116	118					10																	117221517		2203	4299	6502	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3389C>T	chr10.hg19:g.117221517C>T	ENSP00000347152:p.Ala1130Val		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	hg19	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873727	0.91664	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.53423	0.62;0.62	5.05	5.05	0.67936	.	0.103911	0.64402	D	0.000003	T	0.55878	0.1948	M	0.76433	2.335	0.80722	D	1	P;P	0.50443	0.799;0.935	B;P	0.45232	0.343;0.474	T	0.62877	-0.6761	10	0.51188	T	0.08	-10.1629	18.7909	0.91974	0.0:1.0:0.0:0.0	.	181;1130	B4DH41;Q5VV63	.;ATRN1_HUMAN	V	1130;181	ENSP00000347152:A1130V;ENSP00000409624:A181V	ENSP00000347152:A1130V	A	+	2	0	ATRNL1	117211507	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.704000	0.84595	2.522000	0.85027	0.650000	0.86243	GCC		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		T	117221517	C	T	117221517	3	4	644	1	0	0	0	0	1	0	0	0	1207	739	26	2	3475	2	ATRNL1	10	117221517	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	17859877	117221517	18313230	37	35074											
SBF2	81846	hgsc.bcm.edu	37	11	10011141	10011146	+	Splice_Site	DEL	AACTAG	AACTAG	-			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	AACTAG	AACTAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr11:10011141_10011146delAACTAG	ENST00000256190.8	-	13	1434_1435	c.1297_1298delCTAGTT	c.(1297-1299)cta>a	p.L433del		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	433					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAAGGCTACCAACTAGGAAAAAGAAT	0.316																																																0																																										SO:0001630	splice_region_variant	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1297-1CTAGTT>-	chr11.hg19:g.10011141_10011146delAACTAG			Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	In_Frame_Del	DEL	ENST00000256190.8	hg19	CCDS31427.1																																																																																				0.316	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	In_Frame_Del	-	10011146	AACTAG	-	10011141	8	5	644	1	0	1	0	1	0	0	1	0	13865	144	5	0	4363	0	SBF2	11	10011141	Splice_Site	DEL	AACTAG	TCGA-F9-A97G-01A-11D-A382-10		10011141	124995375	38	35075											
PLEKHA7	144100	hgsc.bcm.edu	37	11	16812448	16812448	+	Silent	SNP	C	C	A			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr11:16812448C>A	ENST00000355661.3	-	21	2959	c.2949G>T	c.(2947-2949)tcG>tcT	p.S983S	PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.S983S|PLEKHA7_ENST00000448080.2_Silent_p.S984S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	983					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CACTGACATACGACCGCAGCT	0.642																																																0													40	35	37					11																	16812448		2200	4294	6494	SO:0001819	synonymous_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2949G>T	chr11.hg19:g.16812448C>A			B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	hg19	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	8.196	0.797114	0.16327	.	.	ENSG00000166689	ENST00000530489	.	.	.	5.59	-11.2	0.00127	.	.	.	.	.	T	0.49541	0.1563	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64791	-0.6324	4	.	.	.	-11.4593	11.8426	0.52364	0.0:0.3541:0.4355:0.2105	.	.	.	.	L	615	.	.	R	-	2	0	PLEKHA7	16769024	0.000000	0.05858	0.303000	0.25071	0.923000	0.55619	-2.377000	0.01069	-2.541000	0.00485	-0.265000	0.10407	CGT		0.642	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		A	16812448	C	A	16812448	2	1	644	1	0	0	0	0	0	0	0	1	12063	523	19	4		4	PLEKHA7	11	16812448	Silent	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	6801307	16812448	118194068	39	35076											
SYVN1	84447	hgsc.bcm.edu	37	11	64899012	64899012	+	Missense_Mutation	SNP	G	G	C	rs267603113		TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr11:64899012G>C	ENST00000377190.3	-	7	681	c.587C>G	c.(586-588)tCc>tGc	p.S196C	SYVN1_ENST00000294256.8_Missense_Mutation_p.S196C|SYVN1_ENST00000307289.6_Missense_Mutation_p.S145C|SYVN1_ENST00000526060.1_Missense_Mutation_p.S196C|SYVN1_ENST00000526121.1_5'UTR	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	196					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GAGGTCCACGGAGTGCAGCAC	0.552																																																0													113	92	99					11																	64899012		2201	4297	6498	SO:0001583	missense	84447			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.587C>G	chr11.hg19:g.64899012G>C	ENSP00000366395:p.Ser196Cys		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	hg19	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118620	0.77323	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060;ENST00000531018;ENST00000528487	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	4.76	4.76	0.60689	.	0.061993	0.64402	D	0.000004	T	0.57504	0.2058	L	0.36672	1.1	0.49798	D	0.999825	D;D;D	0.67145	0.996;0.994;0.989	D;D;P	0.66847	0.947;0.947;0.887	T	0.58978	-0.7540	10	0.54805	T	0.06	-34.3522	15.3234	0.74141	0.0:0.0:1.0:0.0	.	145;196;196	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	C	196;196;196;145;196;136;181	ENSP00000366395:S196C;ENSP00000294256:S196C;ENSP00000302035:S145C;ENSP00000436984:S196C;ENSP00000431215:S136C;ENSP00000431720:S181C	ENSP00000294256:S196C	S	-	2	0	SYVN1	64655588	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.891000	0.63185	2.463000	0.83235	0.563000	0.77884	TCC		0.552	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		C	64899012	G	C	64899012	3	2	644	1	0	0	0	0	1	0	0	0	15492	1174	41	4	1306	4	SYVN1	11	64899012	Missense_Mutation	SNP	G	TCGA-F9-A97G-01A-11D-A382-10	48086564	64899012	70107504	40	35077											
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249532	71249532	+	Missense_Mutation	SNP	C	C	G	rs532438179|rs11234084|rs369043826	byFrequency	TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr11:71249532C>G	ENST00000398534.3	+	1	462	c.431C>G	c.(430-432)tCc>tGc	p.S144C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	144	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CCCTGCTGTTCCCAGTCCAGC	0.612																																																0													148	160	156					11																	71249532		2200	4294	6494	SO:0001583	missense	57830			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.431C>G	chr11.hg19:g.71249532C>G	ENSP00000420723:p.Ser144Cys		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	hg19	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	3.125	-0.179750	0.06380	.	.	ENSG00000241233	ENST00000398534	T	0.01197	5.19	1.57	-2.99	0.05497	.	.	.	.	.	T	0.00552	0.0018	N	0.02213	-0.635	0.21861	N	0.999505	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	9	0.02654	T	1	.	12.0511	0.53507	0.0:0.7645:0.2355:0.0	rs11234084	144	O75690	KRA58_HUMAN	C	144	ENSP00000420723:S144C	ENSP00000420723:S144C	S	+	2	0	KRTAP5-8	70927180	0.000000	0.05858	0.375000	0.26029	0.014000	0.08584	-0.627000	0.05521	-0.723000	0.04915	-0.951000	0.02657	TCC		0.612	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		G	71249532	C	G	71249532	3	3	644	1	0	0	0	0	1	0	0	0	8569	855	30	4	433	4	KRTAP5-8	11	71249532	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	6350520	71249532	63756984	41	35078											
PRDM10	56980	hgsc.bcm.edu	37	11	129793159	129793159	+	Missense_Mutation	SNP	C	C	G			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr11:129793159C>G	ENST00000360871.3	-	13	2249	c.2018G>C	c.(2017-2019)tGt>tCt	p.C673S	PRDM10_ENST00000526082.1_Missense_Mutation_p.C591S|PRDM10_ENST00000528746.1_Missense_Mutation_p.C647S|PRDM10_ENST00000358825.5_Missense_Mutation_p.C677S|PRDM10_ENST00000423662.2_Missense_Mutation_p.C591S|PRDM10_ENST00000304538.6_Missense_Mutation_p.C587S	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	677					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTGCTTCCCACAGGTGGAACA	0.517											OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													95	74	81					11																	129793159		2201	4297	6498	SO:0001583	missense	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2018G>C	chr11.hg19:g.129793159C>G	ENSP00000354118:p.Cys673Ser	1575	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	hg19	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.938669	0.92526	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	D;D;D;D;D;D;D	0.99974	-10.2;-10.2;-10.2;-10.2;-10.2;-10.2;-10.2	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99981	0.9994	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.996;0.997;0.996;1.0;0.996	D;D;D;D;D;D	0.87578	0.994;0.99;0.994;0.99;0.998;0.99	D	0.96873	0.9641	10	0.87932	D	0	-17.0242	20.8598	0.99761	0.0:1.0:0.0:0.0	.	587;673;677;591;587;591	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	S	677;587;673;591;647;591;390	ENSP00000351686:C677S;ENSP00000302669:C587S;ENSP00000354118:C673S;ENSP00000398431:C591S;ENSP00000431262:C647S;ENSP00000432237:C591S;ENSP00000435940:C390S	ENSP00000302669:C587S	C	-	2	0	PRDM10	129298369	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	7.311000	0.78958	2.937000	0.99478	0.650000	0.86243	TGT		0.517	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		G	129793159	C	G	129793159	3	3	644	1	0	0	0	0	1	0	0	0	12456	478	17	4	1488	4	PRDM10	11	129793159	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	58543627	129793159	5213357	42	35079											
TAS2R50	259296	hgsc.bcm.edu	37	12	11138793	11138793	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr12:11138793C>T	ENST00000506868.1	-	1	718	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	223					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TTTATGTGGACCTTGGTGCTG	0.438																																																0													157	154	155					12																	11138793		2203	4300	6503	SO:0001583	missense	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.667G>A	chr12.hg19:g.11138793C>T	ENSP00000424040:p.Val223Ile		P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	hg19	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882933	0.33255	.	.	ENSG00000212126	ENST00000506868	T	0.00824	5.65	2.19	-1.22	0.09494	.	1.058070	0.07508	U	0.908398	T	0.02230	0.0069	L	0.58810	1.83	0.09310	N	1	P	0.50156	0.932	P	0.52758	0.708	T	0.42447	-0.9451	10	0.49607	T	0.09	.	6.3225	0.21225	0.0:0.5837:0.0:0.4163	.	223	P59544	T2R50_HUMAN	I	223	ENSP00000424040:V223I	ENSP00000424040:V223I	V	-	1	0	TAS2R50	11030060	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.296000	0.19083	-0.526000	0.06383	0.313000	0.20887	GTC		0.438	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		T	11138793	C	T	11138793	3	4	644	1	0	0	0	0	1	0	0	0	15589	507	18	2	236	2	TAS2R50	12	11138793	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10		11138793	122713102	43	35080											
KRT2	3849	hgsc.bcm.edu	37	12	53045631	53045632	+	In_Frame_Ins	INS	-	-	CGCCTCCAAAGCCGCTGC			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr12:53045631_53045632insCGCCTCCAAAGCCGCTGC	ENST00000309680.3	-	1	316_317	c.295_296insGCAGCGGCTTTGGAGGCG	c.(295-297)ggc>gGCAGCGGCTTTGGAGGCGgc	p.99_99G>GSGFGGG		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	99	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		aaagctgctgccgcctccaaaa	0.619																																																0																																										SO:0001652	inframe_insertion	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.295_296insGCAGCGGCTTTGGAGGCG	chr12.hg19:g.53045631_53045632insCGCCTCCAAAGCCGCTGC	Exception_encountered		Q4VAQ2	In_Frame_Ins	INS	ENST00000309680.3	hg19	CCDS8835.1																																																																																				0.619	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		CGCCTCCAAAGCCGCTGC	53045632	-	CGCCTCCAAAGCCGCTGC	53045631	7	5	644	1	0	1	1	0	0	0	0	0	8459	739	26	0	1659	0	KRT2	12	53045631	In_Frame_Ins	INS	-	TCGA-F9-A97G-01A-11D-A382-10	41906838	53045631	80806264	44	35081											
ATP11A	23250	hgsc.bcm.edu	37	13	113479745	113479745	+	Splice_Site	SNP	T	T	A			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr13:113479745T>A	ENST00000487903.1	+	11	962	c.874T>A	c.(874-876)Tcg>Acg	p.S292T	ATP11A_ENST00000283558.8_Splice_Site_p.S292T|ATP11A_ENST00000375630.2_Splice_Site_p.S292T|ATP11A_ENST00000375645.3_Splice_Site_p.S292T			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	292					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTGTTTTAGATCGATGAATGC	0.453																																																0													124	95	105					13																	113479745		2203	4300	6503	SO:0001630	splice_region_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.873-1T>A	chr13.hg19:g.113479745T>A			Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	hg19	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.98|11.98	1.799891|1.799891	0.31869|0.31869	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|D;D;D;D	.|0.90788	.|-2.73;-2.73;-2.73;-2.73	5.2|5.2	5.2|5.2	0.72013|0.72013	.|ATPase, P-type, ATPase-associated domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91975|0.91975	0.7458|0.7458	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.59357	.|0.985;0.107;0.004	.|P;B;B	.|0.62491	.|0.903;0.14;0.06	D|D	0.89626|0.89626	0.3852|0.3852	5|10	.|0.17832	.|T	.|0.49	.|.	15.1027|15.1027	0.72292|0.72292	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|292;292;292	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	K|T	266|292	.|ENSP00000420387:S292T;ENSP00000364781:S292T;ENSP00000364796:S292T;ENSP00000283558:S292T	.|ENSP00000283558:S292T	N|S	+|+	3|1	2|0	ATP11A|ATP11A	112527746|112527746	1.000000|1.000000	0.71417|0.71417	0.472000|0.472000	0.27241|0.27241	0.009000|0.009000	0.06853|0.06853	7.703000|7.703000	0.84585|0.84585	1.963000|1.963000	0.57068|0.57068	0.459000|0.459000	0.35465|0.35465	AAT|TCG		0.453	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	Missense_Mutation	A	113479745	T	A	113479745	5	1	644	1	0	0	0	0	0	0	1	0	1119	1449	50	5	916	5	ATP11A	13	113479745	Splice_Site	SNP	T	TCGA-F9-A97G-01A-11D-A382-10		113479745	1690133	45	35082											
PPP2R3C	55012	hgsc.bcm.edu	37	14	35554933	35554940	+	Frame_Shift_Del	DEL	GAAGAGAG	GAAGAGAG	-			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	GAAGAGAG	GAAGAGAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr14:35554933_35554940delGAAGAGAG	ENST00000261475.5	-	13	1571_1578	c.1218_1225delCTCTCTTC	c.(1216-1227)atctctcttcagfs	p.SLQ407fs		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	407					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.I406I(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		ATTAAATCCTGAAGAGAGATTTTCAAAG	0.351																																																1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	55012			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	17485	protein-coding gene	gene with protein product		615902	"chromosome 14 open reading frame 10", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.1218_1225delCTCTCTTC	chr14.hg19:g.35554933_35554940delGAAGAGAG	ENSP00000261475:p.Ser407fs		B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Frame_Shift_Del	DEL	ENST00000261475.5	hg19	CCDS9654.1																																																																																				0.351	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		-	35554940	GAAGAGAG	-	35554933	7	5	644	1	0	1	0	1	0	0	0	0	12395	1299	45	0	140	0	PPP2R3C	14	35554933	Frame_Shift_Del	DEL	GAAGAGAG	TCGA-F9-A97G-01A-11D-A382-10		35554933	71794607	46	35083											
PLEKHG3	26030	hgsc.bcm.edu	37	14	65208230	65208230	+	Silent	SNP	C	C	G			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr14:65208230C>G	ENST00000394691.1	+	16	2142	c.1995C>G	c.(1993-1995)ctC>ctG	p.L665L	PLEKHG3_ENST00000471182.2_Silent_p.L198L|PLEKHG3_ENST00000484731.2_Silent_p.L170L|PLEKHG3_ENST00000247226.7_Silent_p.L609L			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	665							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCTGTCAGCTCTCCCCAGAAG	0.672																																																0													35	39	38					14																	65208230		2203	4299	6502	SO:0001819	synonymous_variant	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1995C>G	chr14.hg19:g.65208230C>G			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	hg19																																																																																					0.672	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		G	65208230	C	G	65208230	2	3	644	1	0	0	0	0	0	0	0	1	12072	900	32	4		4	PLEKHG3	14	65208230	Silent	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	29653297	65208230	42141310	47	35084											
FOXN3	1112	hgsc.bcm.edu	37	14	89817056	89817056	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr14:89817056C>T	ENST00000345097.4	-	3	756	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	FOXN3_ENST00000557258.1_Missense_Mutation_p.V214M|FOXN3_ENST00000555353.1_Missense_Mutation_p.V214M|RP11-356K23.1_ENST00000555407.1_RNA|FOXN3_ENST00000261302.5_Missense_Mutation_p.V214M|RP11-356K23.1_ENST00000556942.1_RNA|FOXN3_ENST00000555658.1_5'UTR	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	214					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTATTGAACACGTGTGGGTGT	0.433																																																0													220	192	202					14																	89817056		2203	4300	6503	SO:0001583	missense	1112				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.640G>A	chr14.hg19:g.89817056C>T	ENSP00000343288:p.Val214Met		Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	hg19	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584613	0.65992	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000553353	D;D;D;D	0.94828	-3.53;-3.53;-3.32;-3.32	5.03	5.03	0.67393	.	0.216604	0.37304	N	0.002141	D	0.93785	0.8013	L	0.51422	1.61	0.46901	D	0.999246	P;P	0.49783	0.624;0.928	B;P	0.47015	0.276;0.534	D	0.93504	0.6847	10	0.41790	T	0.15	.	18.3782	0.90442	0.0:1.0:0.0:0.0	.	214;214	O00409;O00409-2	FOXN3_HUMAN;.	M	214;214;214;214;65	ENSP00000343288:V214M;ENSP00000261302:V214M;ENSP00000452005:V214M;ENSP00000452227:V214M	ENSP00000261302:V214M	V	-	1	0	FOXN3	88886809	0.996000	0.38824	0.710000	0.30468	0.681000	0.39784	2.077000	0.41557	2.342000	0.79632	0.561000	0.74099	GTG		0.433	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		T	89817056	C	T	89817056	3	4	644	1	0	0	0	0	1	0	0	0	6023	536	19	1	852	1	FOXN3	14	89817056	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	24608826	89817056	17532484	48	35085											
UBE3A	7337	hgsc.bcm.edu	37	15	25616011	25616011	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr15:25616011C>T	ENST00000397954.2	-	4	1318	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	UBE3A_ENST00000438097.1_Missense_Mutation_p.R417Q|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000232165.3_Missense_Mutation_p.R437Q|UBE3A_ENST00000566215.1_Missense_Mutation_p.R417Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.R417Q			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	440	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AAGTGGTTTTCGACAATCCAG	0.383																																																0													35	35	35					15																	25616011		2202	4298	6500	SO:0001583	missense	7337			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1319G>A	chr15.hg19:g.25616011C>T	ENSP00000381045:p.Arg440Gln		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	hg19	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497612	0.64186	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.57	4.65	0.58169	.	0.052477	0.64402	N	0.000001	T	0.79907	0.4527	M	0.64170	1.965	0.54753	D	0.999988	D;D	0.69078	0.997;0.996	P;D	0.63033	0.747;0.91	T	0.80113	-0.1518	10	0.44086	T	0.13	.	14.5343	0.67950	0.0:0.9295:0.0:0.0705	.	437;440	Q05086-3;Q05086	.;UBE3A_HUMAN	Q	437;437;440;417;417	ENSP00000232165:R437Q;ENSP00000381045:R440Q;ENSP00000411258:R417Q;ENSP00000401265:R417Q	ENSP00000232165:R437Q	R	-	2	0	UBE3A	23167104	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	4.995000	0.63908	1.367000	0.46095	0.460000	0.39030	CGA		0.383	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		T	25616011	C	T	25616011	3	4	644	1	0	0	0	0	1	0	0	0	16884	884	31	1	1340	1	UBE3A	15	25616011	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10		25616011	76915381	49	35086											
THBS1	7057	hgsc.bcm.edu	37	15	39880740	39880740	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr15:39880740G>T	ENST00000260356.5	+	10	1650	c.1485G>T	c.(1483-1485)tgG>tgT	p.W495C		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	495	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ATGGAGGCTGGGGTCCTTGGT	0.498																																																0													65	64	64					15																	39880740		2200	4297	6497	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1485G>T	chr15.hg19:g.39880740G>T	ENSP00000260356:p.Trp495Cys		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	hg19	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116990	0.77323	.	.	ENSG00000137801	ENST00000260356	T	0.62788	0.0	5.87	5.87	0.94306	.	0.000000	0.33792	N	0.004554	D	0.87665	0.6234	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91112	0.4923	10	0.72032	D	0.01	-18.5379	20.1976	0.98245	0.0:0.0:1.0:0.0	.	495	P07996	TSP1_HUMAN	C	495	ENSP00000260356:W495C	ENSP00000260356:W495C	W	+	3	0	THBS1	37668032	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.872000	0.87187	2.772000	0.95346	0.655000	0.94253	TGG		0.498	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		T	39880740	G	T	39880740	3	4	644	1	0	0	0	0	1	0	0	0	15858	1241	43	4	1519	4	THBS1	15	39880740	Missense_Mutation	SNP	G	TCGA-F9-A97G-01A-11D-A382-10	14264729	39880740	62650652	50	35087											
PLA2G4F	255189	hgsc.bcm.edu	37	15	42445858	42445858	+	Splice_Site	SNP	C	C	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr15:42445858C>T	ENST00000382396.4	-	5	537	c.451G>A	c.(451-453)Gat>Aat	p.D151N	PLA2G4F_ENST00000397272.3_Splice_Site_p.D151N			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	151					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCTTGTGAATCCTACATGGAG	0.552																																																0													58	59	59					15																	42445858		2203	4299	6502	SO:0001630	splice_region_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.451-1G>A	chr15.hg19:g.42445858C>T			Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	hg19	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	1.958	-0.439473	0.04636	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.62639	0.01;0.01	5.02	3.11	0.35812	C2 calcium/lipid-binding domain, CaLB (1);	0.308062	0.27375	N	0.019650	T	0.50531	0.1621	L	0.47716	1.5	0.34402	D	0.695385	B	0.15930	0.015	B	0.14023	0.01	T	0.53315	-0.8456	10	0.20519	T	0.43	-14.1627	9.8096	0.40815	0.0:0.8299:0.0:0.1701	.	151	Q68DD2	PA24F_HUMAN	N	147;151;151;151;151	ENSP00000380442:D151N;ENSP00000371833:D151N	ENSP00000290497:D147N	D	-	1	0	PLA2G4F	40233150	0.888000	0.30383	0.829000	0.32907	0.013000	0.08279	1.256000	0.32921	0.770000	0.33336	-0.140000	0.14226	GAT		0.552	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600	Missense_Mutation	T	42445858	C	T	42445858	5	4	644	1	0	0	0	0	0	0	1	0	12008	869	30	2	2162	2	PLA2G4F	15	42445858	Splice_Site	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	2565118	42445858	60085534	51	35088											
CHTF18	63922	hgsc.bcm.edu	37	16	847004	847006	+	In_Frame_Del	DEL	TTG	TTG	-	rs200430443	byFrequency	TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr16:847004_847006delTTG	ENST00000262315.9	+	20	2708_2710	c.2645_2647delTTG	c.(2644-2649)attggg>agg	p.882_883IG>R	CHTF18_ENST00000317063.6_In_Frame_Del_p.1091_1092IG>R|CHTF18_ENST00000455171.2_In_Frame_Del_p.910_911IG>R	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	882					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CTGGGGGGCATTGGGGAGAAAGG	0.65																																																0																																										SO:0001651	inframe_deletion	63922			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2645_2647delTTG	chr16.hg19:g.847004_847006delTTG	ENSP00000262315:p.Ile882_Gly883delinsArg		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	In_Frame_Del	DEL	ENST00000262315.9	hg19	CCDS45371.1																																																																																				0.65	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		-	847006	TTG	-	847004	7	5	644	1	0	1	0	1	0	0	0	0	3416	1493	52	0	2723	0	CHTF18	16	847004	In_Frame_Del	DEL	TTG	TCGA-F9-A97G-01A-11D-A382-10		847004	89507749	52	35089											
C16orf91	283951	hgsc.bcm.edu	37	16	1470405	1470405	+	Missense_Mutation	SNP	G	G	A			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr16:1470405G>A	ENST00000442039.2	-	2	317	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	C16orf91_ENST00000563974.1_Missense_Mutation_p.P14S|C16orf91_ENST00000310355.1_Missense_Mutation_p.P238S	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	81						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CAGCTGAGGGGCAGCACCTTC	0.627																																																0													103	97	99					16																	1470405		2199	4300	6499	SO:0001583	missense	283951			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.241C>T	chr16.hg19:g.1470405G>A	ENSP00000413100:p.Pro81Ser		Q96RZ0	Missense_Mutation	SNP	ENST00000442039.2	hg19		.	.	.	.	.	.	.	.	.	.	G	17.57	3.422356	0.62622	.	.	ENSG00000174109	ENST00000442039;ENST00000310355	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000005	T	0.79003	0.4373	.	.	.	0.43756	D	0.996266	D	0.89917	1.0	D	0.91635	0.999	T	0.81210	-0.1036	8	0.66056	D	0.02	-23.2505	14.4962	0.67688	0.0:0.0:1.0:0.0	.	81	Q4G0I0	CSMT1_HUMAN	S	81;238	.	ENSP00000311390:P238S	P	-	1	0	C16orf91	1410406	1.000000	0.71417	0.994000	0.49952	0.062000	0.15995	4.723000	0.61965	2.492000	0.84095	0.655000	0.94253	CCC		0.627	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432502.1	NM_001010878		A	1470405	G	A	1470405	3	1	644	1	0	0	0	0	1	0	0	0	1846	1203	42	2	364	2	C16orf91	16	1470405	Missense_Mutation	SNP	G	TCGA-F9-A97G-01A-11D-A382-10	623401	1470405	88884348	53	35090											
TMEM132E	124842	hgsc.bcm.edu	37	17	32956193	32956193	+	Silent	SNP	G	G	A			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr17:32956193G>A	ENST00000321639.5	+	5	1366	c.1038G>A	c.(1036-1038)cgG>cgA	p.R346R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	346						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCATTCAGCGGGATGTGCAAG	0.592																																																0													58	47	51					17																	32956193		2203	4300	6503	SO:0001819	synonymous_variant	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1038G>A	chr17.hg19:g.32956193G>A			Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	hg19	CCDS11283.1																																																																																				0.592	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		A	32956193	G	A	32956193	2	1	644	1	0	0	0	0	0	0	0	1	16053	1219	43	2		2	TMEM132E	17	32956193	Silent	SNP	G	TCGA-F9-A97G-01A-11D-A382-10		32956193	48239017	54	35091											
XYLT2	64132	hgsc.bcm.edu	37	17	48433616	48433616	+	Silent	SNP	G	G	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr17:48433616G>T	ENST00000017003.2	+	7	1525	c.1476G>T	c.(1474-1476)cgG>cgT	p.R492R	XYLT2_ENST00000507602.1_Silent_p.R492R	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	492					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACTTCCTCCGGCTGCAGGTGC	0.607																																																0													51	49	50					17																	48433616		2203	4300	6503	SO:0001819	synonymous_variant	64132			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1476G>T	chr17.hg19:g.48433616G>T			Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	hg19	CCDS11563.1																																																																																				0.607	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		T	48433616	G	T	48433616	2	4	644	1	0	0	0	0	0	0	0	1	17469	1190	42	4		4	XYLT2	17	48433616	Silent	SNP	G	TCGA-F9-A97G-01A-11D-A382-10	15477423	48433616	32761594	55	35092											
LRRC59	55379	hgsc.bcm.edu	37	17	48472322	48472322	+	Missense_Mutation	SNP	C	C	G			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr17:48472322C>G	ENST00000225972.7	-	2	368	c.133G>C	c.(133-135)Gat>Cat	p.D45H	RP1-117B12.4_ENST00000511627.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	45						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CAAGACAGATCCAGGATGGTG	0.468																																																0													114	95	101					17																	48472322		2203	4300	6503	SO:0001583	missense	55379			AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.133G>C	chr17.hg19:g.48472322C>G	ENSP00000225972:p.Asp45His		B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	hg19	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055916	0.93793	.	.	ENSG00000108829	ENST00000225972	T	0.31510	1.49	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60979	-0.7155	10	0.62326	D	0.03	.	19.1981	0.93698	0.0:1.0:0.0:0.0	.	45	Q96AG4	LRC59_HUMAN	H	45	ENSP00000225972:D45H	ENSP00000225972:D45H	D	-	1	0	LRRC59	45827321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.589000	0.82641	2.615000	0.88500	0.655000	0.94253	GAT		0.468	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509		G	48472322	C	G	48472322	3	3	644	1	0	0	0	0	1	0	0	0	9017	855	30	4	814	4	LRRC59	17	48472322	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	38706	48472322	32722888	56	35093											
SMAD4	4089	hgsc.bcm.edu	37	18	48575090	48575090	+	Missense_Mutation	SNP	A	A	G			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr18:48575090A>G	ENST00000342988.3	+	3	822	c.284A>G	c.(283-285)tAt>tGt	p.Y95C	SMAD4_ENST00000452201.2_Missense_Mutation_p.Y95C|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y95C|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y95C|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	95	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)|p.Y95S(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATGTGATCTATGCCCGTCTC	0.368																																																41	Whole gene deletion(36)|Unknown(4)|Substitution - Missense(1)	pancreas(27)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)											155	142	146					18																	48575090		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.284A>G	chr18.hg19:g.48575090A>G	ENSP00000341551:p.Tyr95Cys		A8K405	Missense_Mutation	SNP	ENST00000342988.3	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409676	0.83340	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.72615	-0.67;-0.67;-0.67	5.32	5.32	0.75619	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85571	0.1234	10	0.87932	D	0	.	14.2563	0.66053	1.0:0.0:0.0:0.0	.	95	Q13485	SMAD4_HUMAN	C	95	ENSP00000409551:Y95C;ENSP00000341551:Y95C;ENSP00000381452:Y95C	ENSP00000341551:Y95C	Y	+	2	0	SMAD4	46829088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.309000	0.96252	1.992000	0.58205	0.477000	0.44152	TAT		0.368	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		G	48575090	A	G	48575090	3	3	644	1	0	0	0	0	1	0	0	0	14766	449	16	3	290	3	SMAD4	18	48575090	Missense_Mutation	SNP	A	TCGA-F9-A97G-01A-11D-A382-10		48575090	29502158	57	35094											
ST8SIA3	51046	hgsc.bcm.edu	37	18	55021740	55021740	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr18:55021740C>T	ENST00000324000.3	+	2	2321	c.287C>T	c.(286-288)gCg>gTg	p.A96V		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	96					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AATCGGACAGCGTTTTTACAT	0.383																																																0													103	102	103					18																	55021740		2203	4300	6503	SO:0001583	missense	51046			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.287C>T	chr18.hg19:g.55021740C>T	ENSP00000320431:p.Ala96Val		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	hg19	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269186	0.23221	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.48836	0.8	4.88	4.88	0.63580	.	0.101382	0.64402	D	0.000002	T	0.38081	0.1027	L	0.52573	1.65	0.80722	D	1	P	0.41710	0.76	B	0.30251	0.113	T	0.33548	-0.9864	10	0.30078	T	0.28	-29.0489	16.1712	0.81817	0.0:1.0:0.0:0.0	.	96	O43173	SIA8C_HUMAN	V	203;96	ENSP00000320431:A96V	ENSP00000320431:A96V	A	+	2	0	ST8SIA3	53172738	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.952000	0.75989	2.409000	0.81822	0.467000	0.42956	GCG		0.383	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		T	55021740	C	T	55021740	3	4	644	1	0	0	0	0	1	0	0	0	15238	768	27	1	293	1	ST8SIA3	18	55021740	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10	6446650	55021740	23055508	58	35095											
ZFR2	23217	hgsc.bcm.edu	37	19	3827588	3827588	+	Missense_Mutation	SNP	C	C	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr19:3827588C>T	ENST00000262961.4	-	6	926	c.916G>A	c.(916-918)Gtg>Atg	p.V306M		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	306							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TTGGGCTGCACGCCTGTCTTC	0.701																																																0													18	20	19					19																	3827588		1963	4109	6072	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.916G>A	chr19.hg19:g.3827588C>T	ENSP00000262961:p.Val306Met			Missense_Mutation	SNP	ENST00000262961.4	hg19	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	C	4.450	0.083351	0.08533	.	.	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.15017	3.23;2.46	3.12	-6.24	0.02046	.	1.917410	0.03859	U	0.273735	T	0.17959	0.0431	M	0.61703	1.905	0.26249	N	0.978759	B	0.16166	0.016	B	0.14578	0.011	T	0.17684	-1.0361	10	0.44086	T	0.13	.	8.8172	0.35002	0.0:0.5586:0.2486:0.1928	.	306	Q9UPR6	ZFR2_HUMAN	M	306	ENSP00000262961:V306M;ENSP00000388974:V306M	ENSP00000262961:V306M	V	-	1	0	ZFR2	3778588	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-0.677000	0.05215	-2.453000	0.00541	-0.873000	0.02984	GTG		0.701	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		T	3827588	C	T	3827588	3	4	644	1	0	0	0	0	1	0	0	0	17665	536	19	1	1959	1	ZFR2	19	3827588	Missense_Mutation	SNP	C	TCGA-F9-A97G-01A-11D-A382-10		3827588	55301395	59	35096											
AP1M2	10053	hgsc.bcm.edu	37	19	10692495	10692495	+	Missense_Mutation	SNP	G	G	C			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr19:10692495G>C	ENST00000250244.6	-	4	409	c.327C>G	c.(325-327)atC>atG	p.I109M	AP1M2_ENST00000590923.1_Missense_Mutation_p.I109M	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	109					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			ACTCGTAGACGATGACAAAGT	0.567																																																0													79	80	79					19																	10692495		2203	4300	6503	SO:0001583	missense	10053			AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.327C>G	chr19.hg19:g.10692495G>C	ENSP00000250244:p.Ile109Met		B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	hg19	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	g	16.45	3.126621	0.56721	.	.	ENSG00000129354	ENST00000250244	T	0.65732	-0.17	4.94	-3.21	0.05140	Longin-like (1);AP complex, mu/sigma subunit (1);	0.058938	0.64402	D	0.000002	T	0.74997	0.3790	M	0.89534	3.04	0.42849	D	0.994078	P;P	0.51449	0.805;0.945	P;P	0.59288	0.573;0.855	T	0.78370	-0.2230	10	0.72032	D	0.01	-35.9898	10.6557	0.45673	0.7224:0.0:0.2776:0.0	.	109;109	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	M	109	ENSP00000250244:I109M	ENSP00000250244:I109M	I	-	3	3	AP1M2	10553495	0.000000	0.05858	0.895000	0.35142	0.907000	0.53573	-1.827000	0.01704	-0.263000	0.09378	-0.350000	0.07774	ATC		0.567	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			C	10692495	G	C	10692495	3	2	644	1	0	0	0	0	1	0	0	0	735	1048	37	4	980	4	AP1M2	19	10692495	Missense_Mutation	SNP	G	TCGA-F9-A97G-01A-11D-A382-10	6864907	10692495	48436488	60	35097											
PRKCSH	5589	hgsc.bcm.edu	37	19	11558370	11558370	+	Silent	SNP	G	G	A	rs77563879		TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000252455.2_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E|PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E|PRKCSH_ENST00000412601.1_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																																1	Deletion - In frame(1)	central_nervous_system(1)											27	27	27					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.966G>A	chr19.hg19:g.11558370G>A			A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	hg19	CCDS32911.1																																																																																				0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558370	G	A	11558370	2	1	644	1	0	0	0	0	0	0	0	1	12521	991	35	2		2	PRKCSH	19	11558370	Silent	SNP	G	TCGA-F9-A97G-01A-11D-A382-10	865875	11558370	47570613	61	35098											
FBXW9	84261	hgsc.bcm.edu	37	19	12805525	12805525	+	Silent	SNP	G	G	T	rs10416965	byFrequency	TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr19:12805525G>T	ENST00000380339.3	-	3	597	c.561C>A	c.(559-561)ctC>ctA	p.L187L	FBXW9_ENST00000393261.3_Silent_p.L187L|FBXW9_ENST00000587955.1_Silent_p.L177L|FBXW9_ENST00000544494.1_De_novo_Start_OutOfFrame			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	187					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCGACAGACAGAGTGACCCAC	0.632																																																0													62	68	66					19																	12805525		2049	4197	6246	SO:0001819	synonymous_variant	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.561C>A	chr19.hg19:g.12805525G>T			B3KVP7|Q9BT89	Silent	SNP	ENST00000380339.3	hg19																																																																																					0.632	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		T	12805525	G	T	12805525	2	4	644	1	0	0	0	0	0	0	0	1	5773	929	33	4		4	FBXW9	19	12805525	Silent	SNP	G	TCGA-F9-A97G-01A-11D-A382-10	1247155	12805525	46323458	62	35099											
PRNP	5621	hgsc.bcm.edu	37	20	4680620	4680620	+	Missense_Mutation	SNP	G	G	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr20:4680620G>T	ENST00000379440.4	+	2	1041	c.754G>T	c.(754-756)Gtg>Ttg	p.V252L	PRNP_ENST00000430350.2_Missense_Mutation_p.V252L	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						CTTCCTGATAGTGGGATGAGG	0.502																																																0													43	41	42					20																	4680620		2203	4300	6503	SO:0001583	missense	5621			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.754G>T	chr20.hg19:g.4680620G>T	ENSP00000368752:p.Val252Leu			Missense_Mutation	SNP	ENST00000379440.4	hg19	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424622	0.62733	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000444805	D;D	0.91894	-2.93;-2.93	5.1	5.1	0.69264	.	0.293440	0.24278	N	0.039928	D	0.94725	0.8298	L	0.57536	1.79	0.33382	D	0.575028	D;D	0.63046	0.992;0.992	D;D	0.77004	0.989;0.989	D	0.96382	0.9282	10	0.87932	D	0	-9.4323	13.8882	0.63721	0.0:0.0:1.0:0.0	.	252;284	P04156;O75942	PRIO_HUMAN;.	L	252;252;191	ENSP00000368752:V252L;ENSP00000399376:V252L	ENSP00000368752:V252L	V	+	1	0	PRNP	4628620	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.706000	0.61845	2.654000	0.90174	0.655000	0.94253	GTG		0.502	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		T	4680620	G	T	4680620	3	4	644	1	0	0	0	0	1	0	0	0	12549	1029	36	4	756	4	PRNP	20	4680620	Missense_Mutation	SNP	G	TCGA-F9-A97G-01A-11D-A382-10		4680620	58344900	63	35100											
TRIOBP	11078	hgsc.bcm.edu	37	22	38119756	38119756	+	Missense_Mutation	SNP	A	A	G	rs71322688|rs67890459|rs201160789|rs77530465|rs55745992	byFrequency	TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr22:38119756A>G	ENST00000406386.3	+	7	1448	c.1193A>G	c.(1192-1194)cAa>cGa	p.Q398R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	398					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.Q398R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAACCACTCAACGAGAGAAT	0.552																																																1	Substitution - Missense(1)	lung(1)											117	100	106					22																	38119756		1849	3515	5364	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1193A>G	chr22.hg19:g.38119756A>G	ENSP00000384312:p.Gln398Arg		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	hg19	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	7.038	0.561918	0.13498	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.33216	1.42	2.53	2.53	0.30540	.	.	.	.	.	T	0.27629	0.0679	L	0.44542	1.39	0.09310	N	0.99999	P	0.47604	0.898	P	0.47402	0.546	T	0.07578	-1.0765	9	0.21540	T	0.41	.	5.6825	0.17784	0.7186:0.2814:0.0:0.0	.	398	Q9H2D6	TARA_HUMAN	R	398	ENSP00000384312:Q398R	ENSP00000384312:Q398R	Q	+	2	0	TRIOBP	36449702	0.002000	0.14202	0.064000	0.19789	0.071000	0.16799	0.831000	0.27476	1.186000	0.42985	0.165000	0.16767	CAA		0.552	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			G	38119756	A	G	38119756	3	3	644	1	0	0	0	0	1	0	0	0	16558	130	5	3	1211	3	TRIOBP	22	38119756	Missense_Mutation	SNP	A	TCGA-F9-A97G-01A-11D-A382-10		38119756	13184810	64	35101											
SHANK3	85358	hgsc.bcm.edu	37	22	51159397	51159397	+	Missense_Mutation	SNP	T	T	C			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chr22:51159397T>C	ENST00000414786.2	+	21	3321	c.3094T>C	c.(3094-3096)Tcc>Ccc	p.S1032P	SHANK3_ENST00000262795.3_Missense_Mutation_p.S1062P|SHANK3_ENST00000445220.2_Missense_Mutation_p.S1048P			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1046					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGATCTGCCATCCCTACAGCC	0.761																																																0													8	11	10					22																	51159397		1831	3948	5779	SO:0001583	missense	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3094T>C	chr22.hg19:g.51159397T>C	ENSP00000464552:p.Ser1032Pro		D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	hg19		.	.	.	.	.	.	.	.	.	.	T	13.67	2.306121	0.40795	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.69175	-0.38;-0.38	4.24	4.24	0.50183	.	0.119241	0.64402	D	0.000016	T	0.73225	0.3560	M	0.63428	1.95	0.25860	N	0.983833	D;B;D	0.65815	0.963;0.013;0.995	P;B;P	0.56278	0.63;0.012;0.795	T	0.67090	-0.5758	10	0.62326	D	0.03	.	11.3209	0.49421	0.0:0.0:0.0:1.0	.	1046;1047;1062	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	P	1062;1048	ENSP00000442518:S1062P;ENSP00000446078:S1048P	ENSP00000442518:S1062P	S	+	1	0	SHANK3	49506263	1.000000	0.71417	0.988000	0.46212	0.602000	0.36980	3.791000	0.55469	1.563000	0.49615	0.260000	0.18958	TCC		0.761	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		C	51159397	T	C	51159397	3	2	644	1	0	0	0	0	1	0	0	0	14272	1435	50	3	3270	3	SHANK3	22	51159397	Missense_Mutation	SNP	T	TCGA-F9-A97G-01A-11D-A382-10	13039641	51159397	145169	65	35102											
SLC16A2	6567	hgsc.bcm.edu	37	X	73641736	73641736	+	Silent	SNP	C	C	T			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chrX:73641736C>T	ENST00000587091.1	+	1	441	c.264C>T	c.(262-264)acC>acT	p.T88T	SLC16A2_ENST00000276033.5_Silent_p.T162T	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	88					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CCCGCGGCACCGCGCGCGGCT	0.692																																																0													13	15	14					X																	73641736		2187	4269	6456	SO:0001819	synonymous_variant	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.264C>T	chrX.hg19:g.73641736C>T			Q7Z797	Silent	SNP	ENST00000587091.1	hg19	CCDS14426.2																																																																																				0.692	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			T	73641736	C	T	73641736	2	4	644	1	0	0	0	0	0	0	0	1	14414	639	23	1		1	SLC16A2	23	73641736	Silent	SNP	C	TCGA-F9-A97G-01A-11D-A382-10		73641736	81628824	66	35103											
COL4A6	1288	hgsc.bcm.edu	37	X	107453231	107453231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F9-A97G-01A-11D-A382-10	TCGA-F9-A97G-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b01862bd-0a0c-4961-a583-54646cad74e8	2cbd3338-65da-4ceb-9181-cf4bb8c86bc9	g.chrX:107453231delC	ENST00000372216.4	-	8	617	c.517delG	c.(517-519)gatfs	p.D173fs	COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000538570.1_Frame_Shift_Del_p.D172fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.D172fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.D172fs	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	173	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGCCCAGGATCCCCCTGAGAA	0.388									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											0													106	97	100					X																	107453231		2203	4300	6503	SO:0001589	frameshift_variant	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.517delG	chrX.hg19:g.107453231delC	ENSP00000361290:p.Asp173fs		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Frame_Shift_Del	DEL	ENST00000372216.4	hg19	CCDS14541.1																																																																																				0.388	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			-	107453231	C	-	107453231	7	5	644	1	0	1	0	1	0	0	0	0	3697	855	30	0	4710	0	COL4A6	23	107453231	Frame_Shift_Del	DEL	C	TCGA-F9-A97G-01A-11D-A382-10	33811495	107453231	47817329	67	35104											
ZNF684	127396	hgsc.bcm.edu	37	1	41012446	41012446	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr1:41012446A>G	ENST00000372699.3	+	5	702	c.451A>G	c.(451-453)Aga>Gga	p.R151G	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TAAATATAATAGAAGTTATAC	0.299																																																0													35	39	38					1																	41012446		2197	4296	6493	SO:0001583	missense	127396				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"Zinc fingers, C2H2-type", "-"	28418	protein-coding gene	gene with protein product	"hypothetical protein MGC27466"					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.451A>G	chr1.hg19:g.41012446A>G	ENSP00000361784:p.Arg151Gly		Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	hg19	CCDS454.1	.	.	.	.	.	.	.	.	.	.	A	1.875	-0.459201	0.04508	.	.	ENSG00000117010	ENST00000372699	T	0.05717	3.4	3.87	0.211	0.15236	.	0.866547	0.09619	N	0.777770	T	0.06234	0.0161	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37337	-0.9710	10	0.66056	D	0.02	.	7.0072	0.24844	0.6969:0.0:0.3031:0.0	.	151	Q5T5D7	ZN684_HUMAN	G	151	ENSP00000361784:R151G	ENSP00000361784:R151G	R	+	1	2	ZNF684	40785033	0.004000	0.15560	0.000000	0.03702	0.007000	0.05969	0.763000	0.26517	-0.060000	0.13132	-0.326000	0.08463	AGA		0.299	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		G	41012446	A	G	41012446	3	3	645	1	0	0	0	0	1	0	0	0	18096	412	15	3	465	3	ZNF684	1	41012446	Missense_Mutation	SNP	A	TCGA-G7-6789-01A-11D-1961-08		41012446	208238175	1	35105											
TNNI3K	100526835	hgsc.bcm.edu	37	1	74905226	74905226	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr1:74905226T>G	ENST00000370899.3	+	22	2271	c.2234T>G	c.(2233-2235)aTc>aGc	p.I745S	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.I758S|TNNI3K_ENST00000370891.2_Missense_Mutation_p.I745S|TNNI3K_ENST00000326637.3_Missense_Mutation_p.I644S	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		CGGTACACCATCAAAGCAGAT	0.478																																																0													164	136	145					1																	74905226		2203	4300	6503	SO:0001583	missense	100526835					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2234T>G	chr1.hg19:g.74905226T>G	ENSP00000359936:p.Ile745Ser			Missense_Mutation	SNP	ENST00000370899.3	hg19		.	.	.	.	.	.	.	.	.	.	T	10.84	1.464750	0.26335	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056318	0.64402	D	0.000001	T	0.41328	0.1154	N	0.03983	-0.305	0.42989	D	0.994482	B;P;B	0.37276	0.183;0.589;0.372	B;B;B	0.32677	0.131;0.15;0.114	T	0.58451	-0.7634	10	0.08837	T	0.75	.	16.0467	0.80725	0.0:0.0:0.0:1.0	.	644;745;745	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	S	745;745;745;644	ENSP00000359936:I745S;ENSP00000450895:I745S;ENSP00000359928:I745S;ENSP00000322251:I644S	ENSP00000322251:I644S	I	+	2	0	RP11-653A5.2;AC093158.1	74677814	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.774000	0.68906	2.197000	0.70478	0.454000	0.30748	ATC		0.478	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			G	74905226	T	G	74905226	3	3	645	1	0	0	0	0	1	0	0	0	16334	1435	50	5	2364	5	TNNI3K	1	74905226	Missense_Mutation	SNP	T	TCGA-G7-6789-01A-11D-1961-08	33892780	74905226	174345395	2	35106											
TDRD5	163589	hgsc.bcm.edu	37	1	179609042	179609042	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr1:179609042A>C	ENST00000367614.1	+	10	1948	c.1589A>C	c.(1588-1590)cAt>cCt	p.H530P	TDRD5_ENST00000294848.8_Missense_Mutation_p.H530P|TDRD5_ENST00000444136.1_Missense_Mutation_p.H530P	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	530	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAGCCGGGACATCTCTGTTGT	0.418																																																0													206	197	200					1																	179609042		2203	4300	6503	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1589A>C	chr1.hg19:g.179609042A>C	ENSP00000356586:p.His530Pro		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	hg19	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562855	0.65538	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.08984	3.03;3.03;3.03	5.33	4.19	0.49359	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.062123	0.64402	D	0.000003	T	0.16727	0.0402	L	0.32530	0.975	0.35819	D	0.824489	D;D	0.76494	0.999;0.999	D;D	0.73380	0.977;0.98	T	0.09122	-1.0689	10	0.54805	T	0.06	-11.2483	10.2602	0.43423	0.9209:0.0:0.0791:0.0	.	530;530	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	P	530	ENSP00000356586:H530P;ENSP00000294848:H530P;ENSP00000406052:H530P	ENSP00000294848:H530P	H	+	2	0	TDRD5	177875665	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.266000	0.51569	0.854000	0.35336	0.533000	0.62120	CAT		0.418	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		C	179609042	A	C	179609042	3	2	645	1	0	0	0	0	1	0	0	0	15738	217	8	5	1623	5	TDRD5	1	179609042	Missense_Mutation	SNP	A	TCGA-G7-6789-01A-11D-1961-08	104703816	179609042	69641579	3	35107											
PTPRC	5788	hgsc.bcm.edu	37	1	198678927	198678927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr1:198678927delG	ENST00000367376.2	+	11	1310	c.1139delG	c.(1138-1140)agtfs	p.S380fs	PTPRC_ENST00000594404.1_Frame_Shift_Del_p.S219fs|PTPRC_ENST00000352140.3_Frame_Shift_Del_p.S332fs|PTPRC_ENST00000348564.6_Frame_Shift_Del_p.S221fs|PTPRC_ENST00000442510.2_Frame_Shift_Del_p.S382fs	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	380					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACTAACGCAAGTAAAATTATT	0.274																																																0													75	91	85					1																	198678927		2198	4265	6463	SO:0001589	frameshift_variant	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1139delG	chr1.hg19:g.198678927delG	ENSP00000356346:p.Ser380fs		A8K7W6|Q16614|Q9H0Y6	Frame_Shift_Del	DEL	ENST00000367376.2	hg19																																																																																					0.274	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				-	198678927	G	-	198678927	7	5	645	1	0	1	0	1	0	0	0	0	12803	1029	36	0	1188	0	PTPRC	1	198678927	Frame_Shift_Del	DEL	G	TCGA-G7-6789-01A-11D-1961-08	19069885	198678927	50571694	4	35108											
POLR1B	84172	hgsc.bcm.edu	37	2	113308552	113308559	+	Frame_Shift_Del	DEL	CTTTCTTC	CTTTCTTC	-			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	CTTTCTTC	CTTTCTTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr2:113308552_113308559delCTTTCTTC	ENST00000263331.5	+	5	1315_1322	c.735_742delCTTTCTTC	c.(733-744)ttctttcttcctfs	p.FLP246fs	POLR1B_ENST00000417433.2_Frame_Shift_Del_p.FLP190fs|POLR1B_ENST00000537335.1_Frame_Shift_Del_p.FLP35fs|POLR1B_ENST00000541869.1_Frame_Shift_Del_p.FLP284fs|POLR1B_ENST00000409894.3_Frame_Shift_Del_p.FLP246fs	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	246					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AAGAACTGTTCTTTCTTCCTTTGGGATT	0.394																																					Ovarian(16;256 576 9537 23969 41147)											0																																										SO:0001589	frameshift_variant	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.735_742delCTTTCTTC	chr2.hg19:g.113308552_113308559delCTTTCTTC	ENSP00000263331:p.Phe246fs		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Frame_Shift_Del	DEL	ENST00000263331.5	hg19	CCDS2097.1																																																																																				0.394	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		-	113308559	CTTTCTTC	-	113308552	7	5	645	1	0	1	0	1	0	0	0	0	12212	912	32	0	753	0	POLR1B	2	113308552	Frame_Shift_Del	DEL	CTTTCTTC	TCGA-G7-6789-01A-11D-1961-08		113308552	129890821	5	35109											
ALPPL2	251	hgsc.bcm.edu	37	2	233272617	233272617	+	Missense_Mutation	SNP	G	G	A	rs145892470		TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr2:233272617G>A	ENST00000295453.3	+	5	590	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	180					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CGGCGCCTACGCCCACACGGT	0.627																																																0								G	THR/ALA	0,4406		0,0,2203	67	69	68		538	2.7	0.1	2	dbSNP_134	68	1,8597	1.2+/-3.3	0,1,4298	no	missense	ALPPL2	NM_031313.2	58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	180/533	233272617	1,13003	2203	4299	6502	SO:0001583	missense	251			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.538G>A	chr2.hg19:g.233272617G>A	ENSP00000295453:p.Ala180Thr		A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	hg19	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	14.70	2.615024	0.46631	0.0	1.16E-4	ENSG00000163286	ENST00000295453	D	0.98400	-4.91	2.71	2.71	0.32032	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.057529	0.64402	D	0.000002	D	0.99118	0.9696	H	0.94306	3.52	0.45005	D	0.998024	D	0.89917	1.0	D	0.77004	0.989	D	0.99047	1.0826	10	0.87932	D	0	.	13.8099	0.63256	0.0:0.0:1.0:0.0	.	180	P10696	PPBN_HUMAN	T	180	ENSP00000295453:A180T	ENSP00000295453:A180T	A	+	1	0	ALPPL2	232980861	1.000000	0.71417	0.066000	0.19879	0.144000	0.21451	5.834000	0.69361	1.499000	0.48617	0.205000	0.17691	GCC		0.627	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		A	233272617	G	A	233272617	3	1	645	1	0	0	0	0	1	0	0	0	549	1087	38	1	556	1	ALPPL2	2	233272617	Missense_Mutation	SNP	G	TCGA-G7-6789-01A-11D-1961-08	119964065	233272617	9926756	6	35110											
DNAH1	25981	hgsc.bcm.edu	37	3	52422876	52422876	+	Silent	SNP	C	C	T			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr3:52422876C>T	ENST00000420323.2	+	59	9679	c.9418C>T	c.(9418-9420)Ctg>Ttg	p.L3140L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3205					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGGAGAACCTGCAGTACAT	0.637																																																0													59	71	67					3																	52422876		2151	4243	6394	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9418C>T	chr3.hg19:g.52422876C>T			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	hg19	CCDS46842.1																																																																																				0.637	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		T	52422876	C	T	52422876	2	4	645	1	0	0	0	0	0	0	0	1	4599	680	24	2		2	DNAH1	3	52422876	Silent	SNP	C	TCGA-G7-6789-01A-11D-1961-08		52422876	145599554	7	35111											
ANKS1A	23294	hgsc.bcm.edu	37	6	35051232	35051232	+	Silent	SNP	C	C	A	rs371531749		TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr6:35051232C>A	ENST00000360359.3	+	20	3084	c.2946C>A	c.(2944-2946)atC>atA	p.I982I	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	982	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCACCATCATCCTGTCCATCA	0.547																																																0													232	185	201					6																	35051232		2203	4300	6503	SO:0001819	synonymous_variant	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2946C>A	chr6.hg19:g.35051232C>A			A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	hg19	CCDS4798.1																																																																																				0.547	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		A	35051232	C	A	35051232	2	1	645	1	0	0	0	0	0	0	0	1	688	845	30	4		4	ANKS1A	6	35051232	Silent	SNP	C	TCGA-G7-6789-01A-11D-1961-08		35051232	136063835	8	35112											
GSTK1	373156	hgsc.bcm.edu	37	7	142965268	142965268	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr7:142965268C>T	ENST00000358406.5	+	7	693	c.622C>T	c.(622-624)Cac>Tac	p.H208Y	GSTK1_ENST00000409500.3_Missense_Mutation_p.H196Y|GSTK1_ENST00000443571.2_Missense_Mutation_p.H165Y|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000479303.1_Missense_Mutation_p.H264Y	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	208					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GCTGCTGGCGCACCTGCTGGG	0.567																																																0													181	182	182					7																	142965268		2203	4300	6503	SO:0001583	missense	373156				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"Glutathione S-transferases / Mitochondrial (kappa)"	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.622C>T	chr7.hg19:g.142965268C>T	ENSP00000351181:p.His208Tyr		B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	hg19	CCDS5877.1	.	.	.	.	.	.	.	.	.	.	C	4.988	0.183556	0.09495	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.78	-3.58	0.04597	DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	1.302130	0.04873	N	0.446319	T	0.28167	0.0695	N	0.25380	0.74	0.09310	N	1	B;B;B;B	0.11235	0.0;0.0;0.004;0.002	B;B;B;B	0.14578	0.003;0.005;0.011;0.004	T	0.34825	-0.9813	9	0.08837	T	0.75	-3.554	12.5207	0.56058	0.0:0.6216:0.0:0.3784	.	196;165;264;208	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	Y	196;165;208;264	.	ENSP00000351181:H208Y	H	+	1	0	GSTK1	142675390	0.000000	0.05858	0.003000	0.11579	0.606000	0.37113	-1.201000	0.03026	-1.038000	0.03279	-0.259000	0.10710	CAC		0.567	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		T	142965268	C	T	142965268	3	4	645	1	0	0	0	0	1	0	0	0	6838	710	25	2	812	2	GSTK1	7	142965268	Missense_Mutation	SNP	C	TCGA-G7-6789-01A-11D-1961-08		142965268	16173395	9	35113											
CDKN2A	1029	hgsc.bcm.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																						1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	GRCh37	CM014695	CDKN2A	M	rs121913388						11	14	13					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	chr9.hg19:g.21971120G>A	ENSP00000307101:p.Arg80*		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	hg19	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		A	21971120	G	A	21971120	4	1	645	1	0	0	0	0	0	1	0	0	3163	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-G7-6789-01A-11D-1961-08		21971120	119242311	10	35114											
BAT2L1	84726	hgsc.bcm.edu	37	9	134350415	134350415	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr9:134350415G>C	ENST00000357304.4	+	15	2954	c.2899G>C	c.(2899-2901)Ggg>Cgg	p.G967R	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	967							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCAGGAGCTAGGGGAGGAGAG	0.582																																																0													37	42	40					9																	134350415		2050	4189	6239	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2899G>C	chr9.hg19:g.134350415G>C	ENSP00000349856:p.Gly967Arg		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	hg19	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531552	0.27387	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.01918	4.56	5.87	4.98	0.66077	.	.	.	.	.	T	0.01627	0.0052	N	0.12182	0.205	0.80722	D	1	B;B	0.18166	0.026;0.004	B;B	0.18561	0.022;0.005	T	0.57985	-0.7716	8	.	.	.	.	9.9519	0.41645	0.152:0.0:0.848:0.0	.	263;967	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	R	967;263	ENSP00000349856:G967R	.	G	+	1	0	PRRC2B	133340236	1.000000	0.71417	0.147000	0.22382	0.913000	0.54294	6.182000	0.71995	1.487000	0.48415	0.655000	0.94253	GGG		0.582	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				C	134350415	G	C	134350415	3	2	645	1	0	0	0	0	1	0	0	0	1320	1000	35	4	2957	4	BAT2L1	9	134350415	Missense_Mutation	SNP	G	TCGA-G7-6789-01A-11D-1961-08	112379295	134350415	6863016	11	35115											
C11orf70	85016	hgsc.bcm.edu	37	11	101937281	101937281	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr11:101937281C>G	ENST00000434758.2	+	4	362	c.334C>G	c.(334-336)Cat>Gat	p.H112D	C11orf70_ENST00000526781.1_Missense_Mutation_p.H112D|C11orf70_ENST00000534360.1_Intron	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	112										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		GTCATTTTTTCATCGGTTATA	0.303																																																0													107	101	103					11																	101937281		2200	4294	6494	SO:0001583	missense	85016			AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.334C>G	chr11.hg19:g.101937281C>G	ENSP00000414390:p.His112Asp		E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	hg19	CCDS8313.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.099|0.099	-1.155573|-1.155573	0.01686|0.01686	.|.	.|.	ENSG00000137691|ENSG00000137691	ENST00000529204|ENST00000434758;ENST00000526781;ENST00000423732	.|.	.|.	.|.	5.53|5.53	-5.51|-5.51	0.02568|0.02568	.|.	.|0.382417	.|0.32769	.|N	.|0.005664	T|T	0.04998|0.04998	0.0134|0.0134	N|N	0.00032|0.00032	-2.585|-2.585	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.46261|0.46261	-0.9204|-0.9204	6|9	0.87932|0.02654	D|T	0|1	-3.2945|-3.2945	9.2395|9.2395	0.37486|0.37486	0.1423:0.5247:0.3329:0.0|0.1423:0.5247:0.3329:0.0	.|.	.|112	.|Q9BRQ4	.|CK070_HUMAN	L|D	3|112;112;74	.|.	ENSP00000432322:F3L|ENSP00000392150:H74D	F|H	+|+	3|1	2|0	C11orf70|C11orf70	101442491|101442491	1.000000|1.000000	0.71417|0.71417	0.222000|0.222000	0.23844|0.23844	0.555000|0.555000	0.35460|0.35460	0.684000|0.684000	0.25364|0.25364	-0.778000|-0.778000	0.04566|0.04566	-0.474000|-0.474000	0.04947|0.04947	TTC|CAT		0.303	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		G	101937281	C	G	101937281	3	3	645	1	0	0	0	0	1	0	0	0	1661	826	29	4	230	4	C11orf70	11	101937281	Missense_Mutation	SNP	C	TCGA-G7-6789-01A-11D-1961-08		101937281	33069235	12	35116											
FAR2	55711	hgsc.bcm.edu	37	12	29485566	29485566	+	Silent	SNP	T	T	C			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr12:29485566T>C	ENST00000536681.3	+	11	1537	c.1291T>C	c.(1291-1293)Ttg>Ctg	p.L431L	FAR2_ENST00000547116.1_Silent_p.L334L|FAR2_ENST00000182377.4_Silent_p.L431L	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	431					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GTTGAACTGGTTGGAATACAT	0.398																																																0													92	89	90					12																	29485566		2203	4300	6503	SO:0001819	synonymous_variant	55711			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	25531	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 2"		"male sterility domain containing 1"	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1291T>C	chr12.hg19:g.29485566T>C			F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	hg19	CCDS8717.1																																																																																				0.398	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		C	29485566	T	C	29485566	2	2	645	1	0	0	0	0	0	0	0	1	5677	1722	60	3		3	FAR2	12	29485566	Silent	SNP	T	TCGA-G7-6789-01A-11D-1961-08		29485566	104366329	13	35117											
SAV1	60485	hgsc.bcm.edu	37	14	51132011	51132012	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr14:51132011_51132012insA	ENST00000324679.4	-	2	783_784	c.420_421insT	c.(418-423)tttgatfs	p.D141fs	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	141					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTCTGACCATCAAAAAAATTGT	0.396																																																0																																										SO:0001589	frameshift_variant	60485			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"WW domain-containing adaptor 45"	607203	"salvador homolog 1 (Drosophila)"			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.421dupT	chr14.hg19:g.51132018_51132018dupA	ENSP00000324729:p.Asp141fs		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Frame_Shift_Ins	INS	ENST00000324679.4	hg19	CCDS9701.1																																																																																				0.396	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			A	51132012	-	A	51132011	7	5	645	1	0	1	1	0	0	0	0	0	13862	826	29	0	746	0	SAV1	14	51132011	Frame_Shift_Ins	INS	-	TCGA-G7-6789-01A-11D-1961-08		51132011	56217529	14	35118											
RNF213	57674	hgsc.bcm.edu	37	17	78355391	78355391	+	Silent	SNP	C	C	G			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr17:78355391C>G	ENST00000582970.1	+	57	13985	c.13842C>G	c.(13840-13842)ggC>ggG	p.G4614G	RNF213_ENST00000508628.2_Silent_p.G4663G|RNF213_ENST00000336301.6_Silent_p.G2687G|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4614					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATCCAAAAGGCTTTCTGCAGC	0.562																																																0													109	94	99					17																	78355391		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13842C>G	chr17.hg19:g.78355391C>G			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	hg19	CCDS58606.1																																																																																				0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		G	78355391	C	G	78355391	2	3	645	1	0	0	0	0	0	0	0	1	13483	784	28	4		4	RNF213	17	78355391	Silent	SNP	C	TCGA-G7-6789-01A-11D-1961-08		78355391	2839819	15	35119											
RPRD1A	55197	hgsc.bcm.edu	37	18	33606995	33606995	+	Silent	SNP	C	C	T	rs202026701		TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr18:33606995C>T	ENST00000399022.4	-	6	828	c.657G>A	c.(655-657)gcG>gcA	p.A219A	RPRD1A_ENST00000590898.1_Silent_p.A183A|RPRD1A_ENST00000319040.6_Silent_p.A219A|RPRD1A_ENST00000357384.4_Silent_p.A219A|RPRD1A_ENST00000337059.5_Silent_p.A183A|RPRD1A_ENST00000588737.1_Silent_p.A183A	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	219					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.A219A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCAACATACACGCATCCTCTA	0.373																																																1	Substitution - coding silent(1)	lung(1)						C		0,4406		0,0,2203	90	85	87		657	-5.7	1	18		87	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RPRD1A	NM_018170.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		219/313	33606995	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	55197			AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.657G>A	chr18.hg19:g.33606995C>T			A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Silent	SNP	ENST00000399022.4	hg19	CCDS11917.1																																																																																				0.373	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		T	33606995	C	T	33606995	2	4	645	1	0	0	0	0	0	0	0	1	13621	523	19	1		1	RPRD1A	18	33606995	Silent	SNP	C	TCGA-G7-6789-01A-11D-1961-08		33606995	44470253	16	35120											
MED16	10025	hgsc.bcm.edu	37	19	879943	879943	+	Missense_Mutation	SNP	G	G	C	rs201392672|rs76403059	byFrequency	TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr19:879943G>C	ENST00000589119.1	-	7	1346	c.1347C>G	c.(1345-1347)caC>caG	p.H449Q	MED16_ENST00000269814.4_Missense_Mutation_p.H449Q|MED16_ENST00000312090.6_Missense_Mutation_p.H449Q|MED16_ENST00000325464.1_Missense_Mutation_p.H449Q|MED16_ENST00000395808.3_Missense_Mutation_p.H449Q|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	449					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCTTCCCGTGGCTGTCAA	0.672																																																0													13	11	12					19																	879943		2152	4247	6399	SO:0001583	missense	10025			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1347C>G	chr19.hg19:g.879943G>C	ENSP00000464810:p.His449Gln		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	hg19	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	3.376	-0.127462	0.06753	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.21	-7.89	0.01174	WD40 repeat-like-containing domain (1);	0.323237	0.32357	N	0.006220	T	0.21307	0.0513	L	0.37850	1.14	0.37741	D	0.925623	B;B;B;B;B	0.13145	0.006;0.007;0.002;0.001;0.001	B;B;B;B;B	0.14023	0.006;0.006;0.003;0.006;0.01	T	0.20009	-1.0288	10	0.15066	T	0.55	-14.2411	8.1092	0.30905	0.4704:0.1904:0.3392:0.0	.	449;449;449;449;449	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	Q	449;449;449;449;449;305;210;208;449	ENSP00000325612:H449Q;ENSP00000308528:H449Q;ENSP00000379153:H449Q;ENSP00000269814:H449Q	ENSP00000269814:H449Q	H	-	3	2	MED16	830943	0.000000	0.05858	0.886000	0.34754	0.057000	0.15508	-3.404000	0.00482	-1.779000	0.01280	-2.326000	0.00250	CAC		0.672	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		C	879943	G	C	879943	3	2	645	1	0	0	0	0	1	0	0	0	9436	1136	40	4	1322	4	MED16	19	879943	Missense_Mutation	SNP	G	TCGA-G7-6789-01A-11D-1961-08		879943	58249040	17	35121											
FCGBP	8857	hgsc.bcm.edu	37	19	40408648	40408648	+	Silent	SNP	G	G	C			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chr19:40408648G>C	ENST00000221347.6	-	8	4198	c.4191C>G	c.(4189-4191)ccC>ccG	p.P1397P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1397	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTCATCCTTGGGGTCGCCGT	0.607																																																0													121	108	112					19																	40408648		2203	4300	6503	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4191C>G	chr19.hg19:g.40408648G>C			O95784	Silent	SNP	ENST00000221347.6	hg19	CCDS12546.1																																																																																				0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		C	40408648	G	C	40408648	2	2	645	1	0	0	0	0	0	0	0	1	5780	1335	47	4		4	FCGBP	19	40408648	Silent	SNP	G	TCGA-G7-6789-01A-11D-1961-08	39528705	40408648	18720335	18	35122											
SLC6A14	11254	hgsc.bcm.edu	37	X	115573956	115573956	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6789-01A-11D-1961-08	TCGA-G7-6789-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	73b0f7f3-54f1-4030-b2a9-89bb6b4e6d3e	e2d58fed-dc32-460b-aae1-c39d371dfca5	g.chrX:115573956G>A	ENST00000371900.4	+	4	536	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	150					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTTCAAAGTGAACTACCATG	0.323																																																0													126	118	121					X																	115573956		2203	4297	6500	SO:0001583	missense	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.448G>A	chrX.hg19:g.115573956G>A	ENSP00000360967:p.Glu150Lys		Q5H942	Missense_Mutation	SNP	ENST00000371900.4	hg19	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	5.346	0.249106	0.10130	.	.	ENSG00000087916	ENST00000371900	T	0.74526	-0.85	5.61	2.77	0.32553	.	0.454788	0.25045	N	0.033578	T	0.56171	0.1967	L	0.33339	1.005	0.22435	N	0.999103	B	0.02656	0.0	B	0.09377	0.004	T	0.35773	-0.9775	10	0.06625	T	0.88	.	8.3675	0.32395	0.0857:0.4534:0.4609:0.0	.	150	Q9UN76	S6A14_HUMAN	K	150	ENSP00000360967:E150K	ENSP00000360967:E150K	E	+	1	0	SLC6A14	115487984	0.371000	0.25056	0.448000	0.26945	0.981000	0.71138	1.623000	0.37008	0.143000	0.18926	-0.218000	0.12543	GAA		0.323	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			A	115573956	G	A	115573956	3	1	645	1	0	0	0	0	1	0	0	0	14683	1291	45	2	462	2	SLC6A14	23	115573956	Missense_Mutation	SNP	G	TCGA-G7-6789-01A-11D-1961-08		115573956	39696604	19	35123											
JAK1	3716	hgsc.bcm.edu	37	1	65330541	65330541	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:65330541A>T	ENST00000342505.4	-	8	1353	c.1105T>A	c.(1105-1107)Ttc>Atc	p.F369I		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	369	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ATTTCAGGGAAGTAAGAAAAA	0.368			Mis		ALL																																		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													156	150	152					1																	65330541		1885	4123	6008	SO:0001583	missense	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1105T>A	chr1.hg19:g.65330541A>T	ENSP00000343204:p.Phe369Ile		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	hg19	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.861730	0.91433	.	.	ENSG00000162434	ENST00000342505	T	0.21191	2.02	5.55	5.55	0.83447	FERM domain (1);	.	.	.	.	T	0.25382	0.0617	M	0.85462	2.755	0.52099	D	0.999945	D	0.53619	0.961	P	0.47206	0.541	T	0.10042	-1.0647	9	0.28530	T	0.3	-5.6269	16.0013	0.80294	1.0:0.0:0.0:0.0	.	369	P23458	JAK1_HUMAN	I	369	ENSP00000343204:F369I	ENSP00000343204:F369I	F	-	1	0	JAK1	65103129	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.607000	0.90891	2.247000	0.74100	0.528000	0.53228	TTC		0.368	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		T	65330541	A	T	65330541	3	4	646	1	0	0	0	0	1	0	0	0	7939	72	3	5	2431	5	JAK1	1	65330541	Missense_Mutation	SNP	A	TCGA-G7-6790-01A-11D-1961-08		65330541	183920080	1	35124											
SLC6A17	388662	hgsc.bcm.edu	37	1	110738291	110738291	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:110738291T>A	ENST00000331565.4	+	10	2061	c.1576T>A	c.(1576-1578)Tac>Aac	p.Y526N		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	526					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTTCGATGACTACTCGGCCAC	0.537																																																0													107	88	94					1																	110738291		2203	4300	6503	SO:0001583	missense	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1576T>A	chr1.hg19:g.110738291T>A	ENSP00000330199:p.Tyr526Asn		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	hg19	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	T	32	5.131369	0.94473	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	D	0.81996	-1.56	5.65	5.65	0.86999	.	0.056027	0.64402	D	0.000001	D	0.92492	0.7616	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94407	0.7628	10	0.87932	D	0	.	15.8499	0.78921	0.0:0.0:0.0:1.0	.	526	Q9H1V8	S6A17_HUMAN	N	526	ENSP00000330199:Y526N	ENSP00000330199:Y526N	Y	+	1	0	SLC6A17	110539814	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.934000	0.87649	2.146000	0.66826	0.533000	0.62120	TAC		0.537	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		A	110738291	T	A	110738291	3	1	646	1	0	0	0	0	1	0	0	0	14686	1522	53	5	1610	5	SLC6A17	1	110738291	Missense_Mutation	SNP	T	TCGA-G7-6790-01A-11D-1961-08	45407750	110738291	138512330	2	35125											
SIKE1	80143	hgsc.bcm.edu	37	1	115323170	115323170	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:115323170C>A	ENST00000060969.5	-	1	128	c.59G>T	c.(58-60)cGg>cTg	p.R20L	SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000369528.5_Missense_Mutation_p.R20L			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	20					innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						ATCGTGCTCCCGTAGCCTCTC	0.687																																																0													22	24	23					1																	115323170		2200	4298	6498	SO:0001583	missense	80143			AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"suppressor of IKK epsilon"	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.59G>T	chr1.hg19:g.115323170C>A	ENSP00000060969:p.Arg20Leu		Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Missense_Mutation	SNP	ENST00000060969.5	hg19	CCDS878.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946346	0.92593	.	.	ENSG00000052723	ENST00000369528;ENST00000060969	.	.	.	5.39	5.39	0.77823	.	0.052522	0.64402	D	0.000001	T	0.24586	0.0596	L	0.39898	1.24	0.38578	D	0.950123	P;P	0.47191	0.891;0.8	B;B	0.41764	0.331;0.366	T	0.16247	-1.0409	9	0.48119	T	0.1	-15.9215	6.8936	0.24243	0.0:0.7981:0.0:0.2019	.	20;20	Q9BRV8-2;Q9BRV8	.;SIKE1_HUMAN	L	20	.	ENSP00000060969:R20L	R	-	2	0	SIKE1	115124693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.668000	0.46816	2.791000	0.96007	0.655000	0.94253	CGG		0.687	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1	NM_025073		A	115323170	C	A	115323170	3	1	646	1	0	0	0	0	1	0	0	0	14326	652	23	4	596	4	SIKE1	1	115323170	Missense_Mutation	SNP	C	TCGA-G7-6790-01A-11D-1961-08	4584879	115323170	133927451	3	35126											
TRIM46	80128	hgsc.bcm.edu	37	1	155148034	155148034	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:155148034C>G	ENST00000334634.4	+	2	236	c.236C>G	c.(235-237)tCt>tGt	p.S79C	TRIM46_ENST00000368382.1_Missense_Mutation_p.S56C|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000368385.4_Missense_Mutation_p.S79C|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Intron|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000543729.1_Missense_Mutation_p.S86C|TRIM46_ENST00000392451.2_Missense_Mutation_p.S79C|TRIM46_ENST00000368383.3_Missense_Mutation_p.S79C	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	79						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGCCCACCTCTCCTGCCTCC	0.677																																																0													56	55	55					1																	155148034		2203	4300	6503	SO:0001583	missense	80128				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.236C>G	chr1.hg19:g.155148034C>G	ENSP00000334657:p.Ser79Cys		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	hg19	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448430	0.84101	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T	0.60672	0.75;0.5;0.69;0.42;0.17;0.23	4.53	4.53	0.55603	Zinc finger, RING-type (1);	0.348037	0.29205	N	0.012829	T	0.60856	0.2301	L	0.51422	1.61	0.47547	D	0.999457	D;B;D;D;B;D	0.89917	0.998;0.014;1.0;0.999;0.014;0.999	P;B;D;P;B;D	0.68765	0.889;0.033;0.96;0.867;0.033;0.924	T	0.58567	-0.7614	10	0.33141	T	0.24	.	15.1434	0.72630	0.0:1.0:0.0:0.0	.	66;79;66;56;79;79	F5H5Z2;Q5VT61;B7Z3S2;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;.;TRI46_HUMAN;.	C	86;66;79;79;79;56;79	ENSP00000442719:S86C;ENSP00000357369:S79C;ENSP00000376245:S79C;ENSP00000357367:S79C;ENSP00000357366:S56C;ENSP00000334657:S79C	ENSP00000334657:S79C	S	+	2	0	TRIM46	153414658	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.676000	0.74498	2.222000	0.72286	0.650000	0.86243	TCT		0.677	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		G	155148034	C	G	155148034	3	3	646	1	0	0	0	0	1	0	0	0	16526	913	32	4	242	4	TRIM46	1	155148034	Missense_Mutation	SNP	C	TCGA-G7-6790-01A-11D-1961-08	39824864	155148034	94102587	4	35127											
F5	2153	hgsc.bcm.edu	37	1	169510915	169510916	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:169510915_169510916insTT	ENST00000367797.3	-	13	3613_3614	c.3412_3413insAA	c.(3412-3414)atgfs	p.M1138fs	F5_ENST00000367796.3_Frame_Shift_Ins_p.M1143fs	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1138	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGTAGAGTGCATTTGATCAGGG	0.48																																																0																																										SO:0001589	frameshift_variant	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3411_3412dupAA	chr1.hg19:g.169510916_169510917dupTT	ENSP00000356771:p.Met1138fs		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Frame_Shift_Ins	INS	ENST00000367797.3	hg19	CCDS1281.1																																																																																				0.48	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		TT	169510916	-	TT	169510915	7	5	646	1	0	1	1	0	0	0	0	0	5350	217	8	0	3313	0	F5	1	169510915	Frame_Shift_Ins	INS	-	TCGA-G7-6790-01A-11D-1961-08	14362881	169510915	79739706	5	35128											
RC3H1	149041	hgsc.bcm.edu	37	1	173916659	173916660	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr1:173916659_173916660delGT	ENST00000367696.2	-	15	2935_2936	c.2584_2585delAC	c.(2584-2586)accfs	p.T862fs	RC3H1_ENST00000367694.2_Frame_Shift_Del_p.T862fs|RC3H1_ENST00000258349.4_Frame_Shift_Del_p.T862fs			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	862					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATCATCACTGGTTTCTGCTGCT	0.45																																																0																																										SO:0001589	frameshift_variant	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2584_2585delAC	chr1.hg19:g.173916659_173916660delGT	ENSP00000356669:p.Thr862fs		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Frame_Shift_Del	DEL	ENST00000367696.2	hg19	CCDS30940.1																																																																																				0.45	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		-	173916660	GT	-	173916659	7	5	646	1	0	1	0	1	0	0	0	0	13172	1261	44	0	840	0	RC3H1	1	173916659	Frame_Shift_Del	DEL	GT	TCGA-G7-6790-01A-11D-1961-08	4405744	173916659	75333962	6	35129											
GREB1	9687	hgsc.bcm.edu	37	2	11706688	11706688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:11706688delG	ENST00000381486.2	+	4	660	c.360delG	c.(358-360)gtgfs	p.V120fs	GREB1_ENST00000234142.5_Frame_Shift_Del_p.V120fs|GREB1_ENST00000381483.2_Frame_Shift_Del_p.V120fs|GREB1_ENST00000389825.3_Frame_Shift_Del_p.V10fs|GREB1_ENST00000263834.5_Frame_Shift_Del_p.V120fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	120						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTCTCCTCGTGGGGGTCAAGT	0.597																																					Ovarian(39;850 945 2785 23371 33093)											0													98	91	93					2																	11706688		2203	4300	6503	SO:0001589	frameshift_variant	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.360delG	chr2.hg19:g.11706688delG	ENSP00000370896:p.Val120fs		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Frame_Shift_Del	DEL	ENST00000381486.2	hg19	CCDS42655.1																																																																																				0.597	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		-	11706688	G	-	11706688	7	5	646	1	0	1	0	1	0	0	0	0	6762	1335	47	0	370	0	GREB1	2	11706688	Frame_Shift_Del	DEL	G	TCGA-G7-6790-01A-11D-1961-08		11706688	231492685	7	35130											
NBAS	51594	hgsc.bcm.edu	37	2	15691634	15691634	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:15691634A>G	ENST00000281513.5	-	6	387	c.362T>C	c.(361-363)aTt>aCt	p.I121T	NBAS_ENST00000441750.1_Missense_Mutation_p.I121T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	121					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTTCCCAATAATGGATGTAAA	0.299																																																0													41	40	41					2																	15691634		2201	4297	6498	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.362T>C	chr2.hg19:g.15691634A>G	ENSP00000281513:p.Ile121Thr		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	hg19	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	9.005	0.980968	0.18812	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.52526	0.66;0.66	5.66	5.66	0.87406	Quinoprotein amine dehydrogenase, beta chain-like (1);	0.283763	0.33854	N	0.004482	T	0.36026	0.0952	N	0.21448	0.665	0.23657	N	0.997182	B	0.06786	0.001	B	0.06405	0.002	T	0.36065	-0.9763	10	0.87932	D	0	.	13.4276	0.61035	1.0:0.0:0.0:0.0	.	121	A2RRP1	NBAS_HUMAN	T	121	ENSP00000413201:I121T;ENSP00000281513:I121T	ENSP00000281513:I121T	I	-	2	0	NBAS	15609085	1.000000	0.71417	0.995000	0.50966	0.472000	0.32918	4.934000	0.63491	2.144000	0.66660	0.477000	0.44152	ATT		0.299	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		G	15691634	A	G	15691634	3	3	646	1	0	0	0	0	1	0	0	0	10188	101	4	3	6941	3	NBAS	2	15691634	Missense_Mutation	SNP	A	TCGA-G7-6790-01A-11D-1961-08	3984946	15691634	227507739	8	35131											
SMEK2	57223	hgsc.bcm.edu	37	2	55812212	55812212	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:55812212A>G	ENST00000345102.5	-	7	1509	c.1208T>C	c.(1207-1209)aTg>aCg	p.M403T	SMEK2_ENST00000407823.3_Missense_Mutation_p.M403T|SMEK2_ENST00000272313.5_Missense_Mutation_p.M403T	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	403					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCTTCTTGCATTACAAACTC	0.368																																																0													114	111	112					2																	55812212		2203	4300	6503	SO:0001583	missense	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1208T>C	chr2.hg19:g.55812212A>G	ENSP00000339769:p.Met403Thr		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	hg19	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325891	0.60743	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.40225	1.04;1.04;1.04	5.8	5.8	0.92144	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.66939	2.045	0.80722	D	1	B;B;B;B	0.25850	0.018;0.136;0.002;0.136	B;B;B;B	0.30782	0.071;0.082;0.005;0.12	T	0.40979	-0.9534	10	0.44086	T	0.13	-11.8434	16.134	0.81465	1.0:0.0:0.0:0.0	.	403;403;403;403	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	T	403	ENSP00000272313:M403T;ENSP00000385912:M403T;ENSP00000339769:M403T	ENSP00000272313:M403T	M	-	2	0	SMEK2	55665716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.216000	0.71823	0.528000	0.53228	ATG		0.368	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		G	55812212	A	G	55812212	3	3	646	1	0	0	0	0	1	0	0	0	14800	217	8	3	1385	3	SMEK2	2	55812212	Missense_Mutation	SNP	A	TCGA-G7-6790-01A-11D-1961-08	40120578	55812212	187387161	9	35132											
ADD2	119	hgsc.bcm.edu	37	2	70903901	70903901	+	Intron	SNP	G	G	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:70903901G>C	ENST00000264436.4	-	13	2038				ADD2_ENST00000413157.2_Silent_p.G540G|ADD2_ENST00000355733.3_Intron|ADD2_ENST00000430656.1_Silent_p.G556G|ADD2_ENST00000407644.2_Intron	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACGTTTCCCCGCCAGTCAGGG	0.632																																																0													36	39	38					2																	70903901		2203	4300	6503	SO:0001627	intron_variant	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1593+26C>G	chr2.hg19:g.70903901G>C			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	hg19	CCDS1906.1																																																																																				0.632	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		C	70903901	G	C	70903901	1	2	646	0	1	0	0	0	0	0	0	0	305	1074	38	4		4	ADD2	2	70903901	Intron	SNP	G	TCGA-G7-6790-01A-11D-1961-08	15091689	70903901	172295472	10	35133											
GAD1	2571	hgsc.bcm.edu	37	2	171687570	171687570	+	Silent	SNP	C	C	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:171687570C>T	ENST00000358196.3	+	5	965	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Silent_p.L139L|GAD1_ENST00000344257.5_Silent_p.L139L	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	139					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CACCAAGGTGCTGGACTTTCA	0.547																																																0													114	99	104					2																	171687570		2203	4300	6503	SO:0001819	synonymous_variant	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.415C>T	chr2.hg19:g.171687570C>T			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Silent	SNP	ENST00000358196.3	hg19	CCDS2239.1																																																																																				0.547	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			T	171687570	C	T	171687570	2	4	646	1	0	0	0	0	0	0	0	1	6181	796	28	2		2	GAD1	2	171687570	Silent	SNP	C	TCGA-G7-6790-01A-11D-1961-08	100783669	171687570	71511803	11	35134											
TTN	7273	hgsc.bcm.edu	37	2	179419674	179419674	+	Silent	SNP	A	A	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:179419674A>G	ENST00000591111.1	-	281	83813	c.83589T>C	c.(83587-83589)gaT>gaC	p.D27863D	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.D20631D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.D29504D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.D26936D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.D20564D|TTN_ENST00000460472.2_Silent_p.D20439D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27863	Ig-like 130.				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)			TATTAAGGCGATCGGCATCTT	0.423																																																0													90	86	87					2																	179419674		1936	4131	6067	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83589T>C	chr2.hg19:g.179419674A>G			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	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179419674	A	G	179419674	2	3	646	1	0	0	0	0	0	0	0	1	16740	330	12	3		3	TTN	2	179419674	Silent	SNP	A	TCGA-G7-6790-01A-11D-1961-08	7732104	179419674	63779699	12	35135											
TTN	7273	hgsc.bcm.edu	37	2	179650834	179650834	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:179650834G>C	ENST00000591111.1	-	14	2335	c.2111C>G	c.(2110-2112)aCa>aGa	p.T704R	TTN_ENST00000360870.5_Missense_Mutation_p.T704R|TTN_ENST00000342175.6_Missense_Mutation_p.T658R|TTN_ENST00000589042.1_Missense_Mutation_p.T704R|TTN_ENST00000342992.6_Missense_Mutation_p.T704R|TTN_ENST00000359218.5_Missense_Mutation_p.T658R|TTN_ENST00000460472.2_Missense_Mutation_p.T658R			Q8WZ42	TITIN_HUMAN	titin	0					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)			AGCAACAACTGTTGCTACAGC	0.493																																																0													53	55	54					2																	179650834		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2111C>G	chr2.hg19:g.179650834G>C	ENSP00000465570:p.Thr704Arg		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	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.74	3.207756	0.58343	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.70399	-0.48;-0.26;-0.26;-0.27;0.29;0.24	5.99	5.99	0.97316	Ribonuclease H-like (1);	.	.	.	.	T	0.80303	0.4598	L	0.36672	1.1	0.43574	D	0.995901	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.996;0.996;0.996;0.996;0.999	T	0.80732	-0.1251	9	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	658;658;658;704;704	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	704;658;658;658;658;704;208	ENSP00000343764:T704R;ENSP00000434586:T658R;ENSP00000340554:T658R;ENSP00000352154:T658R;ENSP00000354117:T704R;ENSP00000405517:T208R	ENSP00000340554:T658R	T	-	2	0	TTN	179359079	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.402000	0.79972	2.840000	0.97914	0.655000	0.94253	ACA		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		C	179650834	G	C	179650834	3	2	646	1	0	0	0	0	1	0	0	0	16740	1377	48	4	109273	4	TTN	2	179650834	Missense_Mutation	SNP	G	TCGA-G7-6790-01A-11D-1961-08	231160	179650834	63548539	13	35136											
ZNF804A	91752	hgsc.bcm.edu	37	2	185801068	185801068	+	Silent	SNP	A	A	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr2:185801068A>G	ENST00000302277.6	+	4	1539	c.945A>G	c.(943-945)caA>caG	p.Q315Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	315							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCAAGTTTCAACTTCAGTTAT	0.333																																																0													33	32	33					2																	185801068		2203	4296	6499	SO:0001819	synonymous_variant	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.945A>G	chr2.hg19:g.185801068A>G			A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	hg19	CCDS2291.1																																																																																				0.333	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		G	185801068	A	G	185801068	2	3	646	1	0	0	0	0	0	0	0	1	18175	40	2	3		3	ZNF804A	2	185801068	Silent	SNP	A	TCGA-G7-6790-01A-11D-1961-08	6150234	185801068	57398305	14	35137											
PODXL2	50512	hgsc.bcm.edu	37	3	127379599	127379599	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr3:127379599T>A	ENST00000342480.6	+	3	767	c.728T>A	c.(727-729)tTg>tAg	p.L243*		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	243					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGGCCCAGCTTGCTGCTGCCT	0.647																																																0													51	57	55					3																	127379599		2203	4300	6503	SO:0001587	stop_gained	50512			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.728T>A	chr3.hg19:g.127379599T>A	ENSP00000345359:p.Leu243*		Q6UVY4|Q8WUV6	Nonsense_Mutation	SNP	ENST00000342480.6	hg19	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198338	0.38806	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	.	.	.	4.67	-0.49	0.12049	.	0.719396	0.11780	N	0.530317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0789	7.8382	0.29382	0.0:0.3596:0.0:0.6404	.	.	.	.	X	243	.	ENSP00000304498:L243X	L	+	2	0	PODXL2	128862289	0.001000	0.12720	0.001000	0.08648	0.181000	0.23173	0.600000	0.24104	-0.256000	0.09473	0.402000	0.26972	TTG		0.647	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		A	127379599	T	A	127379599	4	1	646	1	0	0	0	0	0	1	0	0	12183	1821	63	5	738	5	PODXL2	3	127379599	Nonsense_Mutation	SNP	T	TCGA-G7-6790-01A-11D-1961-08		127379599	70642831	15	35138											
XRN1	54464	hgsc.bcm.edu	37	3	142123863	142123863	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr3:142123863C>G	ENST00000264951.4	-	16	1886	c.1769G>C	c.(1768-1770)aGg>aCg	p.R590T	RNU6-1294P_ENST00000515995.1_RNA|XRN1_ENST00000392981.2_Missense_Mutation_p.R590T	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	590					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GTTTCTTTTCCTCTCTTCCTT	0.408																																																0													162	148	152					3																	142123863		2203	4300	6503	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1769G>C	chr3.hg19:g.142123863C>G	ENSP00000264951:p.Arg590Thr		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	hg19	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363718	0.41902	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.26373	1.74;1.74	5.53	2.35	0.29111	.	0.408805	0.27109	N	0.020895	T	0.15825	0.0381	L	0.31664	0.95	0.80722	D	1	B;P;B	0.34800	0.067;0.469;0.417	B;B;B	0.33121	0.024;0.158;0.142	T	0.05599	-1.0875	10	0.40728	T	0.16	-9.364	7.0395	0.25013	0.0:0.5382:0.0:0.4618	.	451;590;590	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	T	590	ENSP00000264951:R590T;ENSP00000376707:R590T	ENSP00000264951:R590T	R	-	2	0	XRN1	143606553	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	1.245000	0.32790	0.691000	0.31592	-0.145000	0.13849	AGG		0.408	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		G	142123863	C	G	142123863	3	3	646	1	0	0	0	0	1	0	0	0	17464	681	24	4	3459	4	XRN1	3	142123863	Missense_Mutation	SNP	C	TCGA-G7-6790-01A-11D-1961-08	14744264	142123863	55898567	16	35139											
FRYL	285527	hgsc.bcm.edu	37	4	48578146	48578146	+	Silent	SNP	T	T	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr4:48578146T>C	ENST00000503238.1	-	21	2621	c.2622A>G	c.(2620-2622)gcA>gcG	p.A874A	FRYL_ENST00000537810.1_Silent_p.A874A|FRYL_ENST00000358350.4_Silent_p.A874A|FRYL_ENST00000507711.1_Silent_p.A874A|RNU5E-3P_ENST00000515913.1_RNA|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	874					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACGATGTTGCTGCACTGCAGC	0.473																																																0													125	127	126					4																	48578146		1946	4149	6095	SO:0001819	synonymous_variant	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2622A>G	chr4.hg19:g.48578146T>C			O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	hg19	CCDS43227.1																																																																																				0.473	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			C	48578146	T	C	48578146	2	2	646	1	0	0	0	0	0	0	0	1	6066	1567	55	3		3	FRYL	4	48578146	Silent	SNP	T	TCGA-G7-6790-01A-11D-1961-08		48578146	142576130	17	35140	260	2									
FRYL	285527	hgsc.bcm.edu	37	4	48578148	48578148	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr4:48578148C>T	ENST00000503238.1	-	21	2619	c.2620G>A	c.(2620-2622)Gca>Aca	p.A874T	FRYL_ENST00000537810.1_Missense_Mutation_p.A874T|FRYL_ENST00000358350.4_Missense_Mutation_p.A874T|FRYL_ENST00000507711.1_Missense_Mutation_p.A874T|RNU5E-3P_ENST00000515913.1_RNA|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	874					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GATGTTGCTGCACTGCAGCAA	0.468																																																0													122	124	124					4																	48578148		1943	4148	6091	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2620G>A	chr4.hg19:g.48578148C>T	ENSP00000426064:p.Ala874Thr		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	hg19	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875024	0.51695	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.34859	2.35;2.35;2.35;1.34	5.14	5.14	0.70334	.	0.163703	0.41001	U	0.000974	T	0.19685	0.0473	N	0.08118	0	0.80722	D	1	B;B	0.25441	0.043;0.126	B;B	0.24701	0.011;0.055	T	0.09707	-1.0662	10	0.02654	T	1	.	18.6027	0.91255	0.0:1.0:0.0:0.0	.	874;874	F2Z2S2;O94915	.;FRYL_HUMAN	T	874	ENSP00000426064:A874T;ENSP00000351113:A874T;ENSP00000441114:A874T;ENSP00000421584:A874T	ENSP00000351113:A874T	A	-	1	0	FRYL	48272905	1.000000	0.71417	0.894000	0.35097	0.417000	0.31264	4.730000	0.62015	2.370000	0.80446	0.467000	0.42956	GCA		0.468	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			T	48578148	C	T	48578148	3	4	646	1	0	0	0	0	1	0	0	0	6066	710	25	2	6585	2	FRYL	4	48578148	Missense_Mutation	SNP	C	TCGA-G7-6790-01A-11D-1961-08	2	48578148	142576128	18	35141	260	2									
SHROOM3	57619	hgsc.bcm.edu	37	4	77675996	77675996	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr4:77675996C>A	ENST00000296043.6	+	7	5313	c.4360C>A	c.(4360-4362)Ctg>Atg	p.L1454M	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1454					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TTTTGCAAACCTGAAGCACTA	0.567																																																0													52	54	54					4																	77675996		2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4360C>A	chr4.hg19:g.77675996C>A	ENSP00000296043:p.Leu1454Met		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	hg19	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358823	0.24598	.	.	ENSG00000138771	ENST00000296043	T	0.22743	1.94	5.23	5.23	0.72850	.	1.171820	0.06113	N	0.667490	T	0.22820	0.0551	N	0.24115	0.695	0.09310	N	1	D	0.56521	0.976	P	0.47744	0.556	T	0.17837	-1.0356	10	0.33141	T	0.24	-1.3606	12.5341	0.56133	0.0:0.9214:0.0:0.0786	.	1454	Q8TF72	SHRM3_HUMAN	M	1454	ENSP00000296043:L1454M	ENSP00000296043:L1454M	L	+	1	2	SHROOM3	77895020	0.251000	0.23961	0.544000	0.28141	0.006000	0.05464	2.227000	0.42972	2.716000	0.92895	0.655000	0.94253	CTG		0.567	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		A	77675996	C	A	77675996	3	1	646	1	0	0	0	0	1	0	0	0	14301	680	24	4	4386	4	SHROOM3	4	77675996	Missense_Mutation	SNP	C	TCGA-G7-6790-01A-11D-1961-08	29097848	77675996	113478280	19	35142											
SLC39A8	64116	hgsc.bcm.edu	37	4	103225511	103225511	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr4:103225511T>C	ENST00000394833.2	-	5	1279	c.803A>G	c.(802-804)cAt>cGt	p.H268R	SLC39A8_ENST00000356736.4_Missense_Mutation_p.H268R|SLC39A8_ENST00000510255.1_5'Flank|SLC39A8_ENST00000424970.2_Missense_Mutation_p.H268R	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	268					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AAAATGGATATGTCCATTAGC	0.363																																																0													158	138	145					4																	103225511		2203	4300	6503	SO:0001583	missense	64116				CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.803A>G	chr4.hg19:g.103225511T>C	ENSP00000378310:p.His268Arg		B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	ENST00000394833.2	hg19	CCDS3656.1	.	.	.	.	.	.	.	.	.	.	T	9.588	1.125353	0.20959	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.44881	0.91;0.91;0.91	4.81	4.81	0.61882	.	0.460729	0.18153	U	0.150001	T	0.25938	0.0632	L	0.27053	0.805	0.33924	D	0.641179	B;B;B	0.32350	0.366;0.002;0.016	B;B;B	0.28385	0.089;0.003;0.048	T	0.32640	-0.9899	10	0.16896	T	0.51	-3.0995	9.2864	0.37760	0.1605:0.0:0.0:0.8395	.	268;268;201	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	R	268	ENSP00000394548:H268R;ENSP00000349174:H268R;ENSP00000378310:H268R	ENSP00000349174:H268R	H	-	2	0	SLC39A8	103444534	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.339000	0.43965	1.930000	0.55929	0.528000	0.53228	CAT		0.363	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		C	103225511	T	C	103225511	3	2	646	1	0	0	0	0	1	0	0	0	14630	1464	51	3	672	3	SLC39A8	4	103225511	Missense_Mutation	SNP	T	TCGA-G7-6790-01A-11D-1961-08	25549515	103225511	87928765	20	35143											
CTNNA1	1495	hgsc.bcm.edu	37	5	138266342	138266342	+	Splice_Site	SNP	C	C	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr5:138266342C>T	ENST00000302763.7	+	15	2281	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*	CTNNA1_ENST00000518825.1_Splice_Site_p.R731*|CTNNA1_ENST00000540387.1_Splice_Site_p.R361*|CTNNA1_ENST00000355078.5_Splice_Site_p.R628*	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	731					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.R731R(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGACTTTACCCGGTGAGCAGC	0.582																																																1	Substitution - coding silent(1)	lung(1)											134	129	130					5																	138266342		2203	4300	6503	SO:0001630	splice_region_variant	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2192+1C>T	chr5.hg19:g.138266342C>T			Q12795|Q8N1C0	Nonsense_Mutation	SNP	ENST00000302763.7	hg19	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632988	0.96682	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387;ENST00000520520	.	.	.	5.77	3.89	0.44902	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7916	13.7731	0.63038	0.4172:0.5828:0.0:0.0	.	.	.	.	X	628;731;731;716;731;361;6	.	ENSP00000304669:R731X	R	+	1	2	CTNNA1	138294241	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.424000	0.59868	1.565000	0.49641	0.655000	0.94253	CGA		0.582	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	Nonsense_Mutation	T	138266342	C	T	138266342	5	4	646	1	0	0	0	0	0	0	1	0	4014	666	23	1	2245	1	CTNNA1	5	138266342	Splice_Site	SNP	C	TCGA-G7-6790-01A-11D-1961-08		138266342	42648918	21	35144											
FAM71B	153745	hgsc.bcm.edu	37	5	156590094	156590094	+	Silent	SNP	T	T	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr5:156590094T>A	ENST00000302938.4	-	2	1277	c.1182A>T	c.(1180-1182)gcA>gcT	p.A394A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	394						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGTCCCACTGCTGGTCCTT	0.552																																																0													62	65	64					5																	156590094		2203	4300	6503	SO:0001819	synonymous_variant	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1182A>T	chr5.hg19:g.156590094T>A			Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	hg19	CCDS4335.1																																																																																				0.552	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		A	156590094	T	A	156590094	2	1	646	1	0	0	0	0	0	0	0	1	5610	1567	55	5		5	FAM71B	5	156590094	Silent	SNP	T	TCGA-G7-6790-01A-11D-1961-08	18323752	156590094	24325166	22	35145											
RPL10A	4736	hgsc.bcm.edu	37	6	35437266	35437267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr6:35437266_35437267insA	ENST00000322203.6	+	4	297_298	c.270_271insA	c.(271-273)aaafs	p.K91fs	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	91					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						TCGAGGCGCTGAAAAAACTCAA	0.55																																																0																																										SO:0001589	frameshift_variant	4736			U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.276dupA	chr6.hg19:g.35437272_35437272dupA	ENSP00000363018:p.Lys91fs		B2R801|P52859|P53025|Q5TZT6|Q8J013	Frame_Shift_Ins	INS	ENST00000322203.6	hg19	CCDS4806.1																																																																																				0.55	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		A	35437267	-	A	35437266	7	5	646	1	0	1	1	0	0	0	0	0	13561	1277	45	0	284	0	RPL10A	6	35437266	Frame_Shift_Ins	INS	-	TCGA-G7-6790-01A-11D-1961-08		35437266	135677801	23	35146											
FTSJD2	23070	hgsc.bcm.edu	37	6	37442389	37442389	+	Silent	SNP	A	A	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr6:37442389A>G	ENST00000373451.4	+	18	2075	c.1911A>G	c.(1909-1911)ctA>ctG	p.L637L		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	637					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										ACACTCTGCTATCTGTGGAAA	0.572																																																0													105	100	102					6																	37442389		2203	4300	6503	SO:0001819	synonymous_variant	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1911A>G	chr6.hg19:g.37442389A>G			A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	hg19	CCDS4835.1																																																																																				0.572	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		G	37442389	A	G	37442389	2	3	646	1	0	0	0	0	0	0	0	1	6093	436	16	3		3	FTSJD2	6	37442389	Silent	SNP	A	TCGA-G7-6790-01A-11D-1961-08	2005123	37442389	133672678	24	35147											
RUNX2	860	hgsc.bcm.edu	37	6	45390445	45390445	+	Silent	SNP	A	A	G	rs563987595	byFrequency	TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	6	0.00119808	0.0015	0.0	5008	,	,		8050	0.002		0.0	False		,,,				2504	0.002															0													16	24	21					6																	45390445		1589	3298	4887	SO:0001819	synonymous_variant	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.174A>G	chr6.hg19:g.45390445A>G			O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	hg19	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		G	45390445	A	G	45390445	2	3	646	1	0	0	0	0	0	0	0	1	13754	40	2	3		3	RUNX2	6	45390445	Silent	SNP	A	TCGA-G7-6790-01A-11D-1961-08	7948056	45390445	125724622	25	35148											
ADCY1	107	hgsc.bcm.edu	37	7	45747951	45747951	+	Silent	SNP	T	T	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr7:45747951T>C	ENST00000297323.7	+	18	2842	c.2820T>C	c.(2818-2820)gcT>gcC	p.A940A		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	940			A -> T (in dbSNP:rs45444695).		activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACACCTAGGCTAAGAAGTCCA	0.522																																																0													179	135	150					7																	45747951		2203	4300	6503	SO:0001819	synonymous_variant	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2820T>C	chr7.hg19:g.45747951T>C			A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	hg19	CCDS34631.1																																																																																				0.522	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		C	45747951	T	C	45747951	2	2	646	1	0	0	0	0	0	0	0	1	292	1509	53	3		3	ADCY1	7	45747951	Silent	SNP	T	TCGA-G7-6790-01A-11D-1961-08		45747951	113390712	26	35149											
MLL5	55904	hgsc.bcm.edu	37	7	104717426	104717426	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr7:104717426T>G	ENST00000311117.3	+	10	1330	c.785T>G	c.(784-786)aTt>aGt	p.I262S	KMT2E_ENST00000257745.4_Missense_Mutation_p.I262S|KMT2E_ENST00000334877.4_Missense_Mutation_p.I262S|KMT2E_ENST00000334914.7_De_novo_Start_InFrame|KMT2E_ENST00000476671.1_Missense_Mutation_p.I262S	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	262					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GCTCCAGAGATTGATCCTTCA	0.418																																																0													89	88	88					7																	104717426		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.785T>G	chr7.hg19:g.104717426T>G	ENSP00000312379:p.Ile262Ser		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	hg19	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.456010	0.26161	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	D;D;D;D;D	0.95482	-2.85;-2.47;-2.85;-3.72;-3.22	6.07	4.92	0.64577	.	0.471220	0.25735	N	0.028644	D	0.92639	0.7661	L	0.44542	1.39	0.80722	D	1	D;B	0.54207	0.965;0.372	P;B	0.46758	0.526;0.083	D	0.89734	0.3928	10	0.08837	T	0.75	.	12.0897	0.53719	0.0:0.0668:0.0:0.9332	.	262;262	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	S	262;262;262;262;262;120;262;196	ENSP00000312379:I262S;ENSP00000335599:I262S;ENSP00000257745:I262S;ENSP00000419883:I120S;ENSP00000417888:I262S	ENSP00000257745:I262S	I	+	2	0	MLL5	104504662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.809000	0.38922	1.114000	0.41781	0.533000	0.62120	ATT		0.418	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			G	104717426	T	G	104717426	3	3	646	1	0	0	0	0	1	0	0	0	9626	1493	52	5	815	5	MLL5	7	104717426	Missense_Mutation	SNP	T	TCGA-G7-6790-01A-11D-1961-08	58969475	104717426	54421237	27	35150											
SMO	6608	hgsc.bcm.edu	37	7	128845571	128845571	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr7:128845571C>A	ENST00000249373.3	+	4	1148	c.868C>A	c.(868-870)Cgc>Agc	p.R290S		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	290					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R290S(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GGATGGTGCCCGCCGAGAGAT	0.587			Mis		skin basal cell																																		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	1	Substitution - Missense(1)	lung(1)											58	58	58					7																	128845571		2203	4300	6503	SO:0001583	missense	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.868C>A	chr7.hg19:g.128845571C>A	ENSP00000249373:p.Arg290Ser		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	hg19	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372657	0.95923	.	.	ENSG00000128602	ENST00000249373	D	0.82167	-1.58	5.57	5.57	0.84162	GPCR, family 2-like (1);	0.097576	0.64402	D	0.000001	D	0.91355	0.7273	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.92044	0.5643	10	0.87932	D	0	.	18.5223	0.90958	0.0:1.0:0.0:0.0	.	290	Q99835	SMO_HUMAN	S	290	ENSP00000249373:R290S	ENSP00000249373:R290S	R	+	1	0	SMO	128632807	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.997000	0.70646	2.620000	0.88729	0.491000	0.48974	CGC		0.587	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		A	128845571	C	A	128845571	3	1	646	1	0	0	0	0	1	0	0	0	14806	652	23	4	882	4	SMO	7	128845571	Missense_Mutation	SNP	C	TCGA-G7-6790-01A-11D-1961-08	24128145	128845571	30293092	28	35151											
COL14A1	7373	hgsc.bcm.edu	37	8	121237425	121237425	+	Silent	SNP	A	A	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr8:121237425A>T	ENST00000297848.3	+	15	2106	c.1836A>T	c.(1834-1836)tcA>tcT	p.S612S	COL14A1_ENST00000247781.3_Silent_p.S517S|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.S612S|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGACAGTCAGAGCCTCTGA	0.418																																																0													76	75	76					8																	121237425		2203	4300	6503	SO:0001819	synonymous_variant	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1836A>T	chr8.hg19:g.121237425A>T				Silent	SNP	ENST00000297848.3	hg19	CCDS34938.1																																																																																				0.418	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		T	121237425	A	T	121237425	2	4	646	1	0	0	0	0	0	0	0	1	3673	175	7	5		5	COL14A1	8	121237425	Silent	SNP	A	TCGA-G7-6790-01A-11D-1961-08		121237425	25126597	29	35152											
CNTLN	54875	hgsc.bcm.edu	37	9	17332674	17332674	+	Silent	SNP	G	G	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr9:17332674G>A	ENST00000380647.3	+	10	1674	c.1590G>A	c.(1588-1590)aaG>aaA	p.K530K	CNTLN_ENST00000262360.5_Silent_p.K530K|CNTLN_ENST00000425824.1_Silent_p.K530K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	530					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGCTACAGAAGCTGAGAAAAG	0.378																																																0													74	70	71					9																	17332674		1836	4082	5918	SO:0001819	synonymous_variant	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1590G>A	chr9.hg19:g.17332674G>A			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	hg19	CCDS43789.1																																																																																				0.378	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		A	17332674	G	A	17332674	2	1	646	1	0	0	0	0	0	0	0	1	3641	962	34	2		2	CNTLN	9	17332674	Silent	SNP	G	TCGA-G7-6790-01A-11D-1961-08		17332674	123880757	30	35153											
ACO1	48	hgsc.bcm.edu	37	9	32448942	32448942	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr9:32448942A>T	ENST00000309951.6	+	20	2557	c.2419A>T	c.(2419-2421)Aac>Tac	p.N807Y	ACO1_ENST00000379923.1_Missense_Mutation_p.N807Y|ACO1_ENST00000541043.1_Missense_Mutation_p.N708Y	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	807					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCACCGCAGTAACCTGGTTGG	0.478																																																0													131	111	117					9																	32448942		2203	4300	6503	SO:0001583	missense	48			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2419A>T	chr9.hg19:g.32448942A>T	ENSP00000309477:p.Asn807Tyr		D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	hg19	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351925	0.82132	.	.	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.61392	0.11;0.11;1.13	5.83	5.83	0.93111	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.000000	0.85682	D	0.000000	D	0.86711	0.5998	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92343	0.5883	10	0.87932	D	0	-31.6045	15.1831	0.72975	1.0:0.0:0.0:0.0	.	807	P21399	ACOC_HUMAN	Y	807;807;708	ENSP00000309477:N807Y;ENSP00000369255:N807Y;ENSP00000438733:N708Y	ENSP00000309477:N807Y	N	+	1	0	ACO1	32438942	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.996000	0.63914	2.227000	0.72691	0.528000	0.53228	AAC		0.478	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		T	32448942	A	T	32448942	3	4	646	1	0	0	0	0	1	0	0	0	146	362	13	5	2493	5	ACO1	9	32448942	Missense_Mutation	SNP	A	TCGA-G7-6790-01A-11D-1961-08	15116268	32448942	108764489	31	35154											
HNRNPK	3190	hgsc.bcm.edu	37	9	86585225	86585225	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr9:86585225T>A	ENST00000376264.2	-	16	1471	c.1213A>T	c.(1213-1215)Aaa>Taa	p.K405*	HNRNPK_ENST00000351839.3_Nonsense_Mutation_p.K405*|RP11-575L7.8_ENST00000448389.1_RNA|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000376263.3_Nonsense_Mutation_p.K405*|HNRNPK_ENST00000360384.5_Nonsense_Mutation_p.K405*|HNRNPK_ENST00000376281.4_Nonsense_Mutation_p.K405*	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	405	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TGACCACCTTTGCCAATAATA	0.368																																																0													60	58	59					9																	86585225		2203	4300	6503	SO:0001587	stop_gained	3190				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.1213A>T	chr9.hg19:g.86585225T>A	ENSP00000365440:p.Lys405*		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Nonsense_Mutation	SNP	ENST00000376264.2	hg19	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	T	38	7.091735	0.98059	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1915	15.5864	0.76485	0.0:0.0:0.0:1.0	.	.	.	.	X	405;405;405;405;405;370;405;400	.	ENSP00000317788:K405X	K	-	1	0	HNRNPK	85775045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.510000	0.81708	2.142000	0.66516	0.482000	0.46254	AAA		0.368	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			A	86585225	T	A	86585225	4	1	646	1	0	0	0	0	0	1	0	0	7271	1821	63	5	224	5	HNRNPK	9	86585225	Nonsense_Mutation	SNP	T	TCGA-G7-6790-01A-11D-1961-08	54136283	86585225	54628206	32	35155											
ADAMTS13	11093	hgsc.bcm.edu	37	9	136305491	136305491	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr9:136305491G>C	ENST00000371929.3	+	16	2257	c.1813G>C	c.(1813-1815)Gtg>Ctg	p.V605L	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.V605L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.V574L|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.V277L	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	605	Spacer.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCGCTATGTCGTGGCTGGGAA	0.627																																																0													139	98	112					9																	136305491		2203	4300	6503	SO:0001583	missense	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1813G>C	chr9.hg19:g.136305491G>C	ENSP00000360997:p.Val605Leu		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	hg19	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663418	0.47572	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.62788	0.04;0.0;0.06;0.49	5.21	4.31	0.51392	.	.	.	.	.	T	0.61912	0.2385	N	0.25825	0.765	0.41780	D	0.989816	D;D;D;D	0.89917	1.0;1.0;1.0;0.992	D;D;D;P	0.91635	0.997;0.999;0.99;0.742	T	0.59241	-0.7491	9	0.02654	T	1	.	12.261	0.54651	0.0833:0.0:0.9167:0.0	.	605;574;605;277	Q76LX8;Q76LX8-3;Q76LX8-2;Q9UGQ1	ATS13_HUMAN;.;.;.	L	605;605;574;277	ENSP00000360997:V605L;ENSP00000347927:V605L;ENSP00000348997:V574L;ENSP00000444504:V277L	ENSP00000347927:V605L	V	+	1	0	ADAMTS13	135295312	1.000000	0.71417	0.300000	0.25030	0.035000	0.12851	5.003000	0.63959	1.191000	0.43056	0.561000	0.74099	GTG		0.627	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		C	136305491	G	C	136305491	3	2	646	1	0	0	0	0	1	0	0	0	258	1145	40	4	1875	4	ADAMTS13	9	136305491	Missense_Mutation	SNP	G	TCGA-G7-6790-01A-11D-1961-08	49720266	136305491	4907940	33	35156											
JMJD1C	221037	hgsc.bcm.edu	37	10	64968980	64968980	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr10:64968980A>T	ENST00000399262.2	-	9	2928	c.2710T>A	c.(2710-2712)Tgg>Agg	p.W904R	JMJD1C_ENST00000399251.1_Missense_Mutation_p.W685R|JMJD1C_ENST00000542921.1_Missense_Mutation_p.W722R|JMJD1C_ENST00000402544.1_Missense_Mutation_p.W685R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	904					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGATGTAGCCAAGGACTGGGA	0.433																																																0													65	59	61					10																	64968980		1882	4108	5990	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2710T>A	chr10.hg19:g.64968980A>T	ENSP00000382204:p.Trp904Arg		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	hg19	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480118	0.84747	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77624	0.4158	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79105	-0.1940	10	0.66056	D	0.02	-4.4645	16.5655	0.84588	1.0:0.0:0.0:0.0	.	904;722	Q15652;A0T124	JHD2C_HUMAN;.	R	904;685;685;722	ENSP00000382204:W904R;ENSP00000384990:W685R;ENSP00000382195:W685R;ENSP00000444682:W722R	ENSP00000382195:W685R	W	-	1	0	JMJD1C	64638986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.372000	0.90127	2.302000	0.77476	0.533000	0.62120	TGG		0.433	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		T	64968980	A	T	64968980	3	4	646	1	0	0	0	0	1	0	0	0	7952	130	5	5	4984	5	JMJD1C	10	64968980	Missense_Mutation	SNP	A	TCGA-G7-6790-01A-11D-1961-08		64968980	70565767	34	35157											
LRRC4C	57689	hgsc.bcm.edu	37	11	40136275	40136275	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr11:40136275A>C	ENST00000278198.2	-	2	3531	c.1568T>G	c.(1567-1569)aTg>aGg	p.M523R	LRRC4C_ENST00000530763.1_Missense_Mutation_p.M523R|LRRC4C_ENST00000528697.1_Missense_Mutation_p.M523R|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M523R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	523					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTAGTCTTCATGACCTCATC	0.478																																																0													174	145	155					11																	40136275		2203	4300	6503	SO:0001583	missense	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1568T>G	chr11.hg19:g.40136275A>C	ENSP00000278198:p.Met523Arg		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	hg19	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813848	0.50527	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.65940	-0.6046	10	0.72032	D	0.01	.	15.6754	0.77316	1.0:0.0:0.0:0.0	.	523	Q9HCJ2	LRC4C_HUMAN	R	523	ENSP00000278198:M523R;ENSP00000436976:M523R;ENSP00000437132:M523R;ENSP00000434761:M523R	ENSP00000278198:M523R	M	-	2	0	LRRC4C	40092851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	ATG		0.478	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		C	40136275	A	C	40136275	3	2	646	1	0	0	0	0	1	0	0	0	9010	217	8	5	358	5	LRRC4C	11	40136275	Missense_Mutation	SNP	A	TCGA-G7-6790-01A-11D-1961-08		40136275	94870241	35	35158											
ACCS	84680	hgsc.bcm.edu	37	11	44105011	44105011	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr11:44105011T>C	ENST00000263776.8	+	14	1726	c.1292T>C	c.(1291-1293)cTc>cCc	p.L431P		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	431					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GAAATGCTGCTCTGGCGCCGC	0.567																																					Esophageal Squamous(158;148 1889 8077 23160 41213)											0													71	65	67					11																	44105011		2203	4300	6503	SO:0001583	missense	84680			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1292T>C	chr11.hg19:g.44105011T>C	ENSP00000263776:p.Leu431Pro		B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	hg19	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.025435	0.54683	.	.	ENSG00000110455	ENST00000263776	D	0.93488	-3.23	5.91	5.91	0.95273	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.073130	0.56097	D	0.000026	D	0.97942	0.9323	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99297	1.0900	10	0.87932	D	0	-19.4821	16.0098	0.80391	0.0:0.0:0.0:1.0	.	431	Q96QU6	1A1L1_HUMAN	P	431	ENSP00000263776:L431P	ENSP00000263776:L431P	L	+	2	0	ACCS	44061587	0.997000	0.39634	0.041000	0.18516	0.142000	0.21351	7.315000	0.78998	2.254000	0.74563	0.533000	0.62120	CTC		0.567	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		C	44105011	T	C	44105011	3	2	646	1	0	0	0	0	1	0	0	0	133	1551	54	3	1342	3	ACCS	11	44105011	Missense_Mutation	SNP	T	TCGA-G7-6790-01A-11D-1961-08	3968736	44105011	90901505	36	35159											
MLL2	8085	hgsc.bcm.edu	37	12	49434235	49434235	+	Missense_Mutation	SNP	C	C	T	rs375114492		TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr12:49434235C>T	ENST00000301067.7	-	31	7317	c.7318G>A	c.(7318-7320)Gtt>Att	p.V2440I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2440	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGAGGGGTAACGGGTGATGGG	0.622																																																0								C	ILE/VAL	1,4177		0,1,2088	40	46	44		7318	5.2	0.8	12		44	0,8456		0,0,4228	no	missense	MLL2	NM_003482.3	29	0,1,6316	TT,TC,CC		0.0,0.0239,0.0079	probably-damaging	2440/5538	49434235	1,12633	2089	4228	6317	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7318G>A	chr12.hg19:g.49434235C>T	ENSP00000301067:p.Val2440Ile		O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924285	0.34002	2.39E-4	0.0	ENSG00000167548	ENST00000301067	T	0.80033	-1.33	5.21	5.21	0.72293	.	0.000000	0.34002	N	0.004349	T	0.77136	0.4086	L	0.36672	1.1	0.26063	N	0.981323	D	0.57899	0.981	P	0.44772	0.46	T	0.74553	-0.3627	10	0.87932	D	0	.	17.9117	0.88936	0.0:1.0:0.0:0.0	.	2440	O14686	MLL2_HUMAN	I	2440	ENSP00000301067:V2440I	ENSP00000301067:V2440I	V	-	1	0	MLL2	47720502	0.544000	0.26441	0.785000	0.31869	0.974000	0.67602	3.934000	0.56553	2.596000	0.87737	0.591000	0.81541	GTT		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			T	49434235	C	T	49434235	3	4	646	1	0	0	0	0	1	0	0	0	9623	536	19	1	9391	1	MLL2	12	49434235	Missense_Mutation	SNP	C	TCGA-G7-6790-01A-11D-1961-08		49434235	84417660	37	35160											
HNF1A	6927	hgsc.bcm.edu	37	12	121437343	121437343	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr12:121437343C>T	ENST00000257555.6	+	9	1907	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	HNF1A_ENST00000544413.1_Nonsense_Mutation_p.Q568*|HNF1A_ENST00000541395.1_Nonsense_Mutation_p.Q592*|RP11-216P16.2_ENST00000606238.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	561					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCGGCATCTCAGGCCACCAC	0.701									Hepatic Adenoma, Familial Clustering of																																							0			GRCh37	CM056410	HNF1A	M							28	28	28					12																	121437343		2201	4300	6501	SO:0001587	stop_gained	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1681C>T	chr12.hg19:g.121437343C>T	ENSP00000257555:p.Gln561*		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Nonsense_Mutation	SNP	ENST00000257555.6	hg19	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	37	6.366855	0.97511	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	.	.	.	5.8	5.8	0.92144	.	0.246461	0.28754	N	0.014249	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.9172	17.2189	0.86952	0.0:1.0:0.0:0.0	.	.	.	.	X	561;453;561;382;592;568	.	ENSP00000257555:Q561X	Q	+	1	0	HNF1A	119921726	0.929000	0.31497	0.953000	0.39169	0.944000	0.59088	3.336000	0.52113	2.741000	0.93983	0.650000	0.86243	CAG		0.701	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		T	121437343	C	T	121437343	4	4	646	1	0	0	0	0	0	1	0	0	7253	827	29	2	1715	2	HNF1A	12	121437343	Nonsense_Mutation	SNP	C	TCGA-G7-6790-01A-11D-1961-08	72003108	121437343	12414552	38	35161											
EPSTI1	94240	hgsc.bcm.edu	37	13	43463356	43463357	+	Intron	DNP	CT	CT	TA			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr13:43463356_43463357CT>TA	ENST00000398762.3	-	12	948				EPSTI1_ENST00000313624.7_Intron|EPSTI1_ENST00000313640.7_Nonsense_Mutation_p.R324*			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)											endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CCTTAGGTGCCTCGAAAAAACT	0.292																																																0																																										SO:0001627	intron_variant	94240			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.949_949delinsTA	chr13.hg19:g.43463356_43463357delinsTA			Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	hg19	CCDS9387.1																																																																																				0.292	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		TA	43463357	CT	TA	43463356	1	4	646	0	1	0	0	0	0	0	0	0	5200	681	24	2		2	EPSTI1	13	43463356	Intron	DNP	CT	TCGA-G7-6790-01A-11D-1961-08		43463356	71706522	39	35162											
CCDC70	83446	hgsc.bcm.edu	37	13	52439743	52439743	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr13:52439743C>T	ENST00000242819.4	+	2	525	c.229C>T	c.(229-231)Cat>Tat	p.H77Y		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	77						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AGGCAAGATCCATGCTTTCCG	0.463																																																0													58	65	62					13																	52439743		2203	4300	6503	SO:0001583	missense	83446				CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.229C>T	chr13.hg19:g.52439743C>T	ENSP00000242819:p.His77Tyr		Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	hg19	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	C	4.558	0.103562	0.08731	.	.	ENSG00000123171	ENST00000242819	T	0.20463	2.07	5.19	-0.626	0.11544	.	0.950993	0.08647	N	0.914676	T	0.13670	0.0331	N	0.22421	0.69	0.09310	N	1	B	0.18013	0.025	B	0.21708	0.036	T	0.35674	-0.9779	10	0.62326	D	0.03	-14.9052	6.1269	0.20184	0.4441:0.3965:0.0:0.1594	.	77	Q6NSX1	CCD70_HUMAN	Y	77	ENSP00000242819:H77Y	ENSP00000242819:H77Y	H	+	1	0	CCDC70	51337744	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.815000	0.04481	-0.051000	0.13334	-0.311000	0.09066	CAT		0.463	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		T	52439743	C	T	52439743	3	4	646	1	0	0	0	0	1	0	0	0	2845	594	21	2	231	2	CCDC70	13	52439743	Missense_Mutation	SNP	C	TCGA-G7-6790-01A-11D-1961-08	8976387	52439743	62730135	40	35163											
PCDH8	5100	hgsc.bcm.edu	37	13	53418949	53418949	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr13:53418949A>T	ENST00000377942.3	-	3	3162	c.2959T>A	c.(2959-2961)Ttc>Atc	p.F987I	PCDH8_ENST00000338862.4_Missense_Mutation_p.F890I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	987					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCTTACAGAAGGTTGACATC	0.602																																					GBM(36;25 841 9273 49207)											0													163	95	118					13																	53418949		2203	4300	6503	SO:0001583	missense	5100			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2959T>A	chr13.hg19:g.53418949A>T	ENSP00000367177:p.Phe987Ile		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	hg19	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419256	0.62622	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.56444	0.46;0.47	5.95	5.95	0.96441	.	0.000000	0.46442	D	0.000291	T	0.62816	0.2459	L	0.34521	1.04	0.52501	D	0.999954	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.59731	-0.7399	10	0.31617	T	0.26	.	16.4069	0.83677	1.0:0.0:0.0:0.0	.	890;987	O95206-2;O95206	.;PCDH8_HUMAN	I	987;890;513;830	ENSP00000367177:F987I;ENSP00000341350:F890I	ENSP00000341350:F890I	F	-	1	0	PCDH8	52316950	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.730000	0.91510	2.272000	0.75746	0.460000	0.39030	TTC		0.602	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		T	53418949	A	T	53418949	3	4	646	1	0	0	0	0	1	0	0	0	11519	72	3	5	257	5	PCDH8	13	53418949	Missense_Mutation	SNP	A	TCGA-G7-6790-01A-11D-1961-08	979206	53418949	61750929	41	35164											
ITGA11	22801	hgsc.bcm.edu	37	15	68631978	68631978	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr15:68631978C>G	ENST00000315757.7	-	11	1222	c.1136G>C	c.(1135-1137)gGg>gCg	p.G379A	ITGA11_ENST00000423218.2_Missense_Mutation_p.G379A	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	379					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.G379V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CAGCAGAACCCCATCCTGGCA	0.597																																																1	Substitution - Missense(1)	kidney(1)											61	65	63					15																	68631978		2028	4187	6215	SO:0001583	missense	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1136G>C	chr15.hg19:g.68631978C>G	ENSP00000327290:p.Gly379Ala		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	hg19	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049868	0.75846	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	T;T	0.77750	-1.12;-1.12	5.09	5.09	0.68999	.	0.141219	0.64402	D	0.000005	D	0.86690	0.5993	M	0.84511	2.7	0.54753	D	0.999988	D;D	0.59357	0.985;0.984	P;P	0.55871	0.786;0.736	D	0.87055	0.2149	10	0.38643	T	0.18	.	17.5593	0.87901	0.0:1.0:0.0:0.0	.	379;379	A8K8T0;Q9UKX5	.;ITA11_HUMAN	A	379;379;14;379	ENSP00000327290:G379A;ENSP00000403392:G379A	ENSP00000327290:G379A	G	-	2	0	ITGA11	66419032	1.000000	0.71417	0.983000	0.44433	0.842000	0.47809	7.818000	0.86416	2.391000	0.81399	0.555000	0.69702	GGG		0.597	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		G	68631978	C	G	68631978	3	3	646	1	0	0	0	0	1	0	0	0	7876	623	22	4	2510	4	ITGA11	15	68631978	Missense_Mutation	SNP	C	TCGA-G7-6790-01A-11D-1961-08		68631978	33899414	42	35165											
SCAPER	49855	hgsc.bcm.edu	37	15	76673781	76673781	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr15:76673781C>T	ENST00000563290.1	-	28	3738	c.3643G>A	c.(3643-3645)Gtg>Atg	p.V1215M	SCAPER_ENST00000538941.2_Missense_Mutation_p.V969M|SCAPER_ENST00000324767.7_Missense_Mutation_p.V1215M			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1215						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TGAATGGCCACTTGGATGGTA	0.443																																																0													92	88	89					15																	76673781		1939	4133	6072	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3643G>A	chr15.hg19:g.76673781C>T	ENSP00000454973:p.Val1215Met		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	hg19	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481299	0.63849	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.32023	1.5;1.47	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	M	0.67953	2.075	0.51767	D	0.999932	D;D	0.65815	0.975;0.995	P;D	0.67231	0.793;0.95	T	0.53599	-0.8416	10	0.87932	D	0	.	15.5231	0.75881	0.0:0.8625:0.1375:0.0	.	1214;969	Q9BY12;F5H7X8	SCAPE_HUMAN;.	M	1215;969;1237	ENSP00000326924:V1215M;ENSP00000442190:V969M	ENSP00000303560:V1237M	V	-	1	0	SCAPER	74460836	1.000000	0.71417	0.920000	0.36463	0.589000	0.36550	5.651000	0.67951	2.740000	0.93945	0.650000	0.86243	GTG		0.443	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		T	76673781	C	T	76673781	3	4	646	1	0	0	0	0	1	0	0	0	13884	565	20	2	579	2	SCAPER	15	76673781	Missense_Mutation	SNP	C	TCGA-G7-6790-01A-11D-1961-08	8041803	76673781	25857611	43	35166											
MYH13	8735	hgsc.bcm.edu	37	17	10227379	10227379	+	Nonsense_Mutation	SNP	A	A	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr17:10227379A>T	ENST00000418404.3	-	22	3057	c.2894T>A	c.(2893-2895)tTg>tAg	p.L965*	MYH13_ENST00000252172.4_Nonsense_Mutation_p.L965*|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	965					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACTTTCGTCAAGGTCAGCTC	0.463																																																0													106	105	106					17																	10227379		2195	4300	6495	SO:0001587	stop_gained	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2894T>A	chr17.hg19:g.10227379A>T	ENSP00000404570:p.Leu965*		O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	hg19	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	A	42	9.641822	0.99227	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0394	0.64665	1.0:0.0:0.0:0.0	.	.	.	.	X	965;591	.	ENSP00000252172:L965X	L	-	2	0	MYH13	10168104	1.000000	0.71417	0.965000	0.40720	0.705000	0.40729	8.981000	0.93465	1.950000	0.56595	0.533000	0.62120	TTG		0.463	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		T	10227379	A	T	10227379	4	4	646	1	0	0	0	0	0	1	0	0	10034	131	5	5	2998	5	MYH13	17	10227379	Nonsense_Mutation	SNP	A	TCGA-G7-6790-01A-11D-1961-08		10227379	70967831	44	35167											
MYH8	4626	hgsc.bcm.edu	37	17	10309460	10309460	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr17:10309460T>C	ENST00000403437.2	-	21	2424	c.2330A>G	c.(2329-2331)gAa>gGa	p.E777G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	777	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTCATTTCTTCCAGAAGACC	0.413									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													113	108	110					17																	10309460		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2330A>G	chr17.hg19:g.10309460T>C	ENSP00000384330:p.Glu777Gly		Q14910	Missense_Mutation	SNP	ENST00000403437.2	hg19	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512766	0.85389	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.75260	-0.92	5.22	5.22	0.72569	Myosin head, motor domain (1);	0.000000	0.42420	U	0.000719	D	0.92182	0.7521	H	0.99415	4.555	0.58432	D	0.999999	D	0.71674	0.998	D	0.74674	0.984	D	0.95289	0.8393	10	0.66056	D	0.02	.	15.2675	0.73672	0.0:0.0:0.0:1.0	.	777	P13535	MYH8_HUMAN	G	777	ENSP00000384330:E777G	ENSP00000252173:E777G	E	-	2	0	MYH8	10250185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.205000	0.71048	0.528000	0.53228	GAA		0.413	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		C	10309460	T	C	10309460	3	2	646	1	0	0	0	0	1	0	0	0	10043	1783	62	3	3563	3	MYH8	17	10309460	Missense_Mutation	SNP	T	TCGA-G7-6790-01A-11D-1961-08	82081	10309460	70885750	45	35168											
STAC2	342667	hgsc.bcm.edu	37	17	37368584	37368584	+	Silent	SNP	C	C	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr17:37368584C>T	ENST00000333461.5	-	11	1566	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	399					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCAGGCCCCGCTTCTTGCCAC	0.622																																																0													58	52	54					17																	37368584		2203	4300	6503	SO:0001819	synonymous_variant	342667			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1197G>A	chr17.hg19:g.37368584C>T			Q32MA3	Silent	SNP	ENST00000333461.5	hg19	CCDS11335.1																																																																																				0.622	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		T	37368584	C	T	37368584	2	4	646	1	0	0	0	0	0	0	0	1	15245	796	28	2		2	STAC2	17	37368584	Silent	SNP	C	TCGA-G7-6790-01A-11D-1961-08	27059124	37368584	43826626	46	35169											
CAPS	8498	hgsc.bcm.edu	37	19	5914495	5914495	+	IGR	SNP	G	G	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:5914495G>T	ENST00000340578.6	-	0	3233				AC104532.2_ENST00000588891.1_3'UTR|CAPS_ENST00000222125.5_Silent_p.L26L|CAPS_ENST00000452990.2_Silent_p.L26L|CAPS_ENST00000588776.1_Silent_p.L112L|AC104532.4_ENST00000591109.1_RNA	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TCCAGGGCCTGGCCAGGTGAG	0.667																																																0													38	42	41					19																	5914495		2203	4300	6503	SO:0001628	intergenic_variant	828			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			chr19.hg19:g.5914495G>T			B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	ENST00000340578.6	hg19	CCDS42478.1																																																																																				0.667	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		T	5914495	G	T	5914495	1	4	646	0	1	0	0	0	0	0	0	0	2639	1335	47	4		4	CAPS	19	5914495	IGR	SNP	G	TCGA-G7-6790-01A-11D-1961-08		5914495	53214488	47	35170											
C3	718	hgsc.bcm.edu	37	19	6709834	6709834	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:6709834T>G	ENST00000245907.6	-	14	1798	c.1706A>C	c.(1705-1707)cAg>cCg	p.Q569P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	569					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GTCTTCTGACTGGCCGCTTTT	0.637																																																0													51	52	52					19																	6709834		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1706A>C	chr19.hg19:g.6709834T>G	ENSP00000245907:p.Gln569Pro		A7E236	Missense_Mutation	SNP	ENST00000245907.6	hg19	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	T	7.093	0.572475	0.13623	.	.	ENSG00000125730	ENST00000245907	T	0.60548	0.18	5.15	-4.43	0.03568	Alpha-2-macroglobulin, N-terminal 2 (1);	1.754940	0.02473	N	0.087708	T	0.26991	0.0661	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09143	-1.0688	10	0.15066	T	0.55	.	2.5674	0.04786	0.1135:0.1705:0.2356:0.4803	.	569	P01024	CO3_HUMAN	P	569	ENSP00000245907:Q569P	ENSP00000245907:Q569P	Q	-	2	0	C3	6660834	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.671000	0.01954	-0.737000	0.04824	-0.382000	0.06688	CAG		0.637	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		G	6709834	T	G	6709834	3	3	646	1	0	0	0	0	1	0	0	0	2206	1580	55	5	3397	5	C3	19	6709834	Missense_Mutation	SNP	T	TCGA-G7-6790-01A-11D-1961-08	795339	6709834	52419149	48	35171											
FCER2	2208	hgsc.bcm.edu	37	19	7755293	7755293	+	Splice_Site	SNP	T	T	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:7755293T>A	ENST00000346664.5	-	9	832	c.620A>T	c.(619-621)cAg>cTg	p.Q207L	FCER2_ENST00000597921.1_Splice_Site_p.Q207L|FCER2_ENST00000360067.4_Splice_Site_p.Q206L	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	207	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCAGCCCACCTGCTCCTCCGG	0.667																																																0													43	46	45					19																	7755293		2203	4300	6503	SO:0001630	splice_region_variant	2208			M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"C-type lectin domain containing", "CD molecules"	3612	protein-coding gene	gene with protein product		151445	"Fc fragment of IgE, low affinity II, receptor for (CD23A)"	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.621+1A>T	chr19.hg19:g.7755293T>A				Missense_Mutation	SNP	ENST00000346664.5	hg19	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	t	14.83	2.652954	0.47362	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.16457	2.34;2.34	4.61	4.61	0.57282	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.33477	U	0.004865	T	0.37652	0.1011	M	0.66378	2.025	0.36695	D	0.879773	D	0.76494	0.999	D	0.87578	0.998	T	0.46843	-0.9162	10	0.87932	D	0	.	10.4446	0.44486	0.0:0.0:0.0:1.0	.	207	P06734	FCER2_HUMAN	L	207;206	ENSP00000264072:Q207L;ENSP00000353178:Q206L	ENSP00000264072:Q207L	Q	-	2	0	FCER2	7661293	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	3.912000	0.56386	1.733000	0.51620	0.382000	0.24955	CAG		0.667	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002	Missense_Mutation	A	7755293	T	A	7755293	5	1	646	1	0	0	0	0	0	0	1	0	5778	1594	55	5	357	5	FCER2	19	7755293	Splice_Site	SNP	T	TCGA-G7-6790-01A-11D-1961-08	1045459	7755293	51373690	49	35172											
SMARCA4	6597	hgsc.bcm.edu	37	19	11113781	11113781	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:11113781G>C	ENST00000429416.3	+	13	2170	c.1889G>C	c.(1888-1890)gGc>gCc	p.G630A	SMARCA4_ENST00000450717.3_Missense_Mutation_p.G630A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G630A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G630A|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G630A|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G630A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G630A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G630A|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G630A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	630					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCCTCACAGGCACAGATGCC	0.597			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											77	79	78					19																	11113781		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1889G>C	chr19.hg19:g.11113781G>C	ENSP00000395654:p.Gly630Ala		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862182	0.91511	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	4.57	4.57	0.56435	BRK domain (2);	0.000000	0.85682	D	0.000000	T	0.79805	0.4509	L	0.58510	1.815	0.80722	D	1	P;P;P;P;D;P;P	0.54772	0.857;0.932;0.932;0.853;0.968;0.868;0.868	P;P;P;P;P;P;P	0.53760	0.597;0.708;0.708;0.734;0.699;0.708;0.708	T	0.82386	-0.0483	10	0.66056	D	0.02	-36.4878	16.6596	0.85238	0.0:0.0:1.0:0.0	.	630;630;630;630;630;630;630	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	A	630;630;694;630;630;630;630;630	ENSP00000395654:G630A;ENSP00000350720:G630A;ENSP00000343896:G630A;ENSP00000445036:G630A;ENSP00000392837:G630A;ENSP00000397783:G630A;ENSP00000414727:G630A	ENSP00000343896:G630A	G	+	2	0	SMARCA4	10974781	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.601000	0.98297	2.526000	0.85167	0.563000	0.77884	GGC		0.597	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		C	11113781	G	C	11113781	3	2	646	1	0	0	0	0	1	0	0	0	14776	1203	42	4	1931	4	SMARCA4	19	11113781	Missense_Mutation	SNP	G	TCGA-G7-6790-01A-11D-1961-08	3358488	11113781	48015202	50	35173											
RYR1	6261	hgsc.bcm.edu	37	19	38990577	38990577	+	Missense_Mutation	SNP	G	G	A	rs201584482		TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:38990577G>A	ENST00000359596.3	+	45	7244	c.7244G>A	c.(7243-7245)cGg>cAg	p.R2415Q	RYR1_ENST00000355481.4_Missense_Mutation_p.R2415Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R2415Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2415	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAAGAAAACCGGGTGCACCTG	0.632																																																0													120	97	104					19																	38990577		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7244G>A	chr19.hg19:g.38990577G>A	ENSP00000352608:p.Arg2415Gln		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704736	0.48412	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97529	-4.42;-4.42;-4.42	3.99	3.99	0.46301	.	0.000000	0.64402	U	0.000007	D	0.95726	0.8610	L	0.48362	1.52	0.38108	D	0.937463	D;D	0.63046	0.992;0.985	P;B	0.48901	0.594;0.44	D	0.95492	0.8570	10	0.33141	T	0.24	.	15.0045	0.71501	0.0:0.0:1.0:0.0	.	2415;2415	P21817-2;P21817	.;RYR1_HUMAN	Q	2415	ENSP00000352608:R2415Q;ENSP00000347667:R2415Q;ENSP00000354254:R2415Q	ENSP00000347667:R2415Q	R	+	2	0	RYR1	43682417	0.992000	0.36948	1.000000	0.80357	0.705000	0.40729	2.287000	0.43505	2.045000	0.60652	0.297000	0.19635	CGG		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			A	38990577	G	A	38990577	3	1	646	1	0	0	0	0	1	0	0	0	13774	1116	39	1	7422	1	RYR1	19	38990577	Missense_Mutation	SNP	G	TCGA-G7-6790-01A-11D-1961-08	27876796	38990577	20138406	51	35174											
MYH14	79784	hgsc.bcm.edu	37	19	50764757	50764757	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr19:50764757A>G	ENST00000596571.1	+	18	2327	c.2327A>G	c.(2326-2328)aAc>aGc	p.N776S	MYH14_ENST00000425460.1_Missense_Mutation_p.N784S|MYH14_ENST00000376970.2_Missense_Mutation_p.N809S|MYH14_ENST00000601313.1_Missense_Mutation_p.N817S|MYH14_ENST00000598205.1_Missense_Mutation_p.N784S|MYH14_ENST00000440075.2_Missense_Mutation_p.N817S|MYH14_ENST00000262269.8_Missense_Mutation_p.N817S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	776	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGGACCCCAACCTCTACCGC	0.632																																																0													40	44	42					19																	50764757		2011	4174	6185	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2327A>G	chr19.hg19:g.50764757A>G	ENSP00000472819:p.Asn776Ser		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	hg19	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.111012	0.56398	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	4.48	4.48	0.54585	Myosin head, motor domain (2);	.	.	.	.	D	0.82770	0.5109	L	0.47016	1.485	0.80722	D	1	B;B;B	0.29909	0.144;0.261;0.22	B;B;B	0.29176	0.03;0.099;0.06	T	0.82348	-0.0502	9	0.54805	T	0.06	.	12.0425	0.53460	1.0:0.0:0.0:0.0	.	817;776;784	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	S	776;817;809;784;776;817	ENSP00000406273:N817S;ENSP00000366169:N809S;ENSP00000407879:N784S;ENSP00000262269:N817S	ENSP00000262269:N817S	N	+	2	0	MYH14	55456569	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.830000	0.92063	2.028000	0.59812	0.454000	0.30748	AAC		0.632	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		G	50764757	A	G	50764757	3	3	646	1	0	0	0	0	1	0	0	0	10035	43	2	3	2528	3	MYH14	19	50764757	Missense_Mutation	SNP	A	TCGA-G7-6790-01A-11D-1961-08	11774180	50764757	8364226	52	35175											
CEP250	11190	hgsc.bcm.edu	37	20	34092361	34092361	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr20:34092361A>G	ENST00000397527.1	+	30	6884	c.6164A>G	c.(6163-6165)cAg>cGg	p.Q2055R	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1999R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2055	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGACATCAGCAGGAACGGGAG	0.557																																																0													29	31	30					20																	34092361		2203	4300	6503	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6164A>G	chr20.hg19:g.34092361A>G	ENSP00000380661:p.Gln2055Arg		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	hg19	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	7.149	0.583366	0.13749	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.43688	2.96;2.95;0.94	4.83	1.33	0.21861	.	0.879228	0.09850	N	0.747749	T	0.14743	0.0356	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29792	-1.0000	10	0.19147	T	0.46	.	8.6927	0.34275	0.6701:0.0:0.3299:0.0	.	2055	Q9BV73	CP250_HUMAN	R	2055;1999;543	ENSP00000380661:Q2055R;ENSP00000341541:Q1999R;ENSP00000395992:Q543R	ENSP00000341541:Q1999R	Q	+	2	0	CEP250	33555775	0.990000	0.36364	0.012000	0.15200	0.910000	0.53928	0.903000	0.28475	0.045000	0.15804	0.533000	0.62120	CAG		0.557	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		G	34092361	A	G	34092361	3	3	646	1	0	0	0	0	1	0	0	0	3254	188	7	3	6270	3	CEP250	20	34092361	Missense_Mutation	SNP	A	TCGA-G7-6790-01A-11D-1961-08		34092361	28933159	53	35176											
ADNP	23394	hgsc.bcm.edu	37	20	49510230	49510230	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr20:49510230A>T	ENST00000396029.3	-	5	1588	c.1021T>A	c.(1021-1023)Tac>Aac	p.Y341N	ADNP_ENST00000349014.3_Missense_Mutation_p.Y341N|ADNP_ENST00000396032.3_Missense_Mutation_p.Y341N|ADNP_ENST00000371602.4_Missense_Mutation_p.Y341N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	341					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CCAACACTGTAACCCTGGCCT	0.443																																																0													137	123	128					20																	49510230		2203	4300	6503	SO:0001583	missense	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1021T>A	chr20.hg19:g.49510230A>T	ENSP00000379346:p.Tyr341Asn		E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	hg19	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072885	0.36566	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.91	5.91	0.95273	.	0.295208	0.38663	N	0.001605	T	0.74665	0.3746	L	0.55990	1.75	0.42457	D	0.992773	D	0.76494	0.999	D	0.81914	0.995	T	0.72121	-0.4386	9	0.30078	T	0.28	-7.2492	16.3436	0.83110	1.0:0.0:0.0:0.0	.	341	Q9H2P0	ADNP_HUMAN	N	341	.	ENSP00000342905:Y341N	Y	-	1	0	ADNP	48943637	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	8.948000	0.93006	2.269000	0.75478	0.533000	0.62120	TAC		0.443	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		T	49510230	A	T	49510230	3	4	646	1	0	0	0	0	1	0	0	0	323	362	13	5	2291	5	ADNP	20	49510230	Missense_Mutation	SNP	A	TCGA-G7-6790-01A-11D-1961-08	15417869	49510230	13515290	54	35177											
ADARB1	104	hgsc.bcm.edu	37	21	46596347	46596347	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chr21:46596347G>A	ENST00000360697.3	+	2	746	c.731G>A	c.(730-732)cGc>cAc	p.R244H	ADARB1_ENST00000389863.4_Missense_Mutation_p.R244H|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Missense_Mutation_p.R244H|ADARB1_ENST00000539173.1_Missense_Mutation_p.R244H			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	244	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AACGAACTGCGCCCAGGACTC	0.587																																																0													108	97	101					21																	46596347		2203	4300	6503	SO:0001583	missense	104			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.731G>A	chr21.hg19:g.46596347G>A	ENSP00000353920:p.Arg244His		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	hg19	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564135	0.86335	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.28	5.28	0.74379	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	U	0.000000	D	0.86818	0.6024	M	0.75447	2.3	0.80722	D	1	P;D;D;B;P	0.61697	0.928;0.99;0.97;0.046;0.861	P;D;P;B;P	0.66716	0.521;0.946;0.877;0.04;0.521	D	0.85797	0.1371	10	0.38643	T	0.18	-42.4461	16.7859	0.85574	0.0:0.0:1.0:0.0	.	271;244;244;272;244	P78563-4;P78563;Q4AE77;G5E9B4;P78563-3	.;RED1_HUMAN;.;.;.	H	244	ENSP00000441897:R244H;ENSP00000374513:R244H;ENSP00000015877:R244H;ENSP00000353920:R244H	ENSP00000015877:R244H	R	+	2	0	ADARB1	45420775	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	9.347000	0.97059	2.633000	0.89246	0.655000	0.94253	CGC		0.587	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		A	46596347	G	A	46596347	3	1	646	1	0	0	0	0	1	0	0	0	282	1087	38	1	737	1	ADARB1	21	46596347	Missense_Mutation	SNP	G	TCGA-G7-6790-01A-11D-1961-08		46596347	1533548	55	35178											
PNCK	139728	hgsc.bcm.edu	37	X	152937464	152937464	+	Silent	SNP	A	A	T			TCGA-G7-6790-01A-11D-1961-08	TCGA-G7-6790-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ef807a92-f471-4d93-8ae9-24bbb846feaa	66cbb40f-14b3-40c0-a332-e8a8e21bca11	g.chrX:152937464A>T	ENST00000370150.1	-	5	463	c.285T>A	c.(283-285)ggT>ggA	p.G95G	PNCK_ENST00000393831.2_Silent_p.G95G|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Silent_p.G112G|PNCK_ENST00000340888.3_Silent_p.G95G|PNCK_ENST00000447676.2_Silent_p.G178G|PNCK_ENST00000370142.1_Silent_p.G95G			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCTCGCCACCCGTCACCC	0.657																																																0													39	35	36					X																	152937464		2203	4299	6502	SO:0001819	synonymous_variant	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.285T>A	chrX.hg19:g.152937464A>T			B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	hg19																																																																																					0.657	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		T	152937464	A	T	152937464	2	4	646	1	0	0	0	0	0	0	0	1	12147	146	6	5		5	PNCK	23	152937464	Silent	SNP	A	TCGA-G7-6790-01A-11D-1961-08		152937464	2333096	56	35179											
DDX20	11218	hgsc.bcm.edu	37	1	112303729	112303729	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr1:112303729T>G	ENST00000369702.4	+	6	1564	c.944T>G	c.(943-945)tTt>tGt	p.F315C	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	315	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTTAGTCTTTTCTAATTTG	0.353																																																0													111	114	113					1																	112303729		2203	4300	6503	SO:0001583	missense	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"DEAD-boxes"	2743	protein-coding gene	gene with protein product		606168	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.944T>G	chr1.hg19:g.112303729T>G	ENSP00000358716:p.Phe315Cys		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	hg19	CCDS842.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962407	0.74016	.	.	ENSG00000064703	ENST00000369702	T	0.11063	2.81	5.62	5.62	0.85841	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66106	-0.6006	10	0.87932	D	0	-23.1854	15.4768	0.75489	0.0:0.0:0.0:1.0	.	315	Q9UHI6	DDX20_HUMAN	C	315	ENSP00000358716:F315C	ENSP00000358716:F315C	F	+	2	0	DDX20	112105252	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.586000	0.82596	2.152000	0.67230	0.459000	0.35465	TTT		0.353	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		G	112303729	T	G	112303729	3	3	647	1	0	0	0	0	1	0	0	0	4350	1841	64	5	966	5	DDX20	1	112303729	Missense_Mutation	SNP	T	TCGA-G7-6792-01A-21D-1961-08		112303729	136946892	1	35180											
DSTYK	25778	hgsc.bcm.edu	37	1	205132071	205132071	+	Silent	SNP	G	G	A			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr1:205132071G>A	ENST00000367162.3	-	5	1651	c.1621C>T	c.(1621-1623)Cta>Tta	p.L541L	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Silent_p.L541L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	541					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGCTCCCATAGCATCCTTGTA	0.418																																																0													205	191	196					1																	205132071		2203	4300	6503	SO:0001819	synonymous_variant	25778			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1621C>T	chr1.hg19:g.205132071G>A			B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	hg19	CCDS1451.1																																																																																				0.418	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		A	205132071	G	A	205132071	2	1	647	1	0	0	0	0	0	0	0	1	4787	962	34	2		2	DSTYK	1	205132071	Silent	SNP	G	TCGA-G7-6792-01A-21D-1961-08	92828342	205132071	44118550	2	35181											
ZFYVE20	64145	hgsc.bcm.edu	37	3	15116216	15116216	+	Silent	SNP	C	C	A			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr3:15116216C>A	ENST00000253699.3	-	14	2041	c.1428G>T	c.(1426-1428)gcG>gcT	p.A476A	ZFYVE20_ENST00000476527.2_Silent_p.A476A	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	476	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CCATGCGGCCCGCGGCCTTGG	0.617																																																0													74	69	70					3																	15116216		2203	4300	6503	SO:0001819	synonymous_variant	64145			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1428G>T	chr3.hg19:g.15116216C>A			B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	hg19	CCDS2623.1																																																																																				0.617	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		A	15116216	C	A	15116216	2	1	647	1	0	0	0	0	0	0	0	1	17671	639	23	4		4	ZFYVE20	3	15116216	Silent	SNP	C	TCGA-G7-6792-01A-21D-1961-08		15116216	182906214	3	35182											
CTDSPL	10217	hgsc.bcm.edu	37	3	38009318	38009318	+	Splice_Site	SNP	C	C	G			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr3:38009318C>G	ENST00000273179.5	+	5	397	c.371C>G	c.(370-372)cCt>cGt	p.P124R	MIR26A1_ENST00000362205.1_RNA|CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000443503.2_Splice_Site_p.P113R	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	124	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TTTCTCTAGCCTATTAGTAAT	0.308											OREG0015472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													64	61	62					3																	38009318		2199	4299	6498	SO:0001630	splice_region_variant	10217			D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	16890	protein-coding gene	gene with protein product	"small CTD phosphatase 3", "HYA22 protein", "RB protein serine phosphatase from chromosome 3"	608592	"chromosome 3 open reading frame 8"	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.370-1C>G	chr3.hg19:g.38009318C>G		874	Q3ZTU0|Q70KI4|Q7Z5Q2	Missense_Mutation	SNP	ENST00000273179.5	hg19	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625293	0.87560	.	.	ENSG00000144677	ENST00000443503;ENST00000273179;ENST00000447745	T;T;T	0.17213	2.29;2.29;2.29	5.15	5.15	0.70609	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.049311	0.85682	D	0.000000	T	0.46756	0.1409	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.49133	-0.8971	10	0.62326	D	0.03	-20.9054	19.0018	0.92837	0.0:1.0:0.0:0.0	.	113;124	O15194-2;O15194	.;CTDSL_HUMAN	R	113;124;13	ENSP00000398288:P113R;ENSP00000273179:P124R;ENSP00000407443:P13R	ENSP00000273179:P124R	P	+	2	0	CTDSPL	37984322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.720000	0.84759	2.571000	0.86741	0.655000	0.94253	CCT		0.308	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808	Missense_Mutation	G	38009318	C	G	38009318	5	3	647	1	0	0	0	0	0	0	1	0	4007	695	24	4	389	4	CTDSPL	3	38009318	Splice_Site	SNP	C	TCGA-G7-6792-01A-21D-1961-08	22893102	38009318	160013112	4	35183											
FYCO1	79443	hgsc.bcm.edu	37	3	46008824	46008824	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr3:46008824C>T	ENST00000296137.2	-	8	2207	c.2002G>A	c.(2002-2004)Gcc>Acc	p.A668T	FYCO1_ENST00000535325.1_Missense_Mutation_p.A668T	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	668					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CGGATGCTGGCCTGCTCGGCC	0.632																																																0													48	53	52					3																	46008824		2203	4299	6502	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2002G>A	chr3.hg19:g.46008824C>T	ENSP00000296137:p.Ala668Thr		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	hg19	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644029	0.47258	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21932	1.98;1.98	5.77	3.98	0.46160	.	0.365546	0.30492	N	0.009502	T	0.29355	0.0731	M	0.62723	1.935	0.25407	N	0.988398	D;D	0.60575	0.988;0.983	P;P	0.57204	0.815;0.766	T	0.12016	-1.0564	10	0.19147	T	0.46	-9.0348	5.1628	0.15070	0.0:0.5992:0.1506:0.2502	.	668;668	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	T	668	ENSP00000296137:A668T;ENSP00000441178:A668T	ENSP00000296137:A668T	A	-	1	0	FYCO1	45983828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.289000	0.33307	0.786000	0.33708	0.655000	0.94253	GCC		0.632	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		T	46008824	C	T	46008824	3	4	647	1	0	0	0	0	1	0	0	0	6127	739	26	2	2478	2	FYCO1	3	46008824	Missense_Mutation	SNP	C	TCGA-G7-6792-01A-21D-1961-08	7999506	46008824	152013606	5	35184											
FNIP2	57600	hgsc.bcm.edu	37	4	159825696	159825696	+	Silent	SNP	A	A	G			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr4:159825696A>G	ENST00000264433.6	+	17	3420	c.3345A>G	c.(3343-3345)taA>taG	p.*1115*	C4orf45_ENST00000434826.2_Intron|FNIP2_ENST00000379346.3_Silent_p.*1138*|C4orf45_ENST00000508011.1_Intron	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	0					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TACTCTTATAAGCTAAAGCTC	0.388																																																0													141	133	136					4																	159825696		1847	4095	5942	SO:0001819	synonymous_variant	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.3345A>G	chr4.hg19:g.159825696A>G			Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	hg19	CCDS47155.1																																																																																				0.388	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		G	159825696	A	G	159825696	2	3	647	1	0	0	0	0	0	0	0	1	5978	79	3	3		3	FNIP2	4	159825696	Silent	SNP	A	TCGA-G7-6792-01A-21D-1961-08		159825696	31328580	6	35185											
RBM27	54439	hgsc.bcm.edu	37	5	145610424	145610424	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr5:145610424C>A	ENST00000265271.5	+	6	960	c.794C>A	c.(793-795)tCt>tAt	p.S265Y	RBM27_ENST00000506502.1_Missense_Mutation_p.S265Y	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	265					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCATAGCTCTTCCAATTCT	0.428																																																0													124	108	113					5																	145610424		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.794C>A	chr5.hg19:g.145610424C>A	ENSP00000265271:p.Ser265Tyr		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	hg19	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690372	0.48097	.	.	ENSG00000091009	ENST00000265271	T	0.48201	0.82	5.56	5.56	0.83823	.	0.344763	0.28332	N	0.015722	T	0.36496	0.0969	N	0.22421	0.69	0.35199	D	0.774129	P;P	0.51653	0.454;0.947	B;B	0.41374	0.064;0.355	T	0.53514	-0.8428	10	0.59425	D	0.04	-7.8615	15.2609	0.73621	0.1489:0.8511:0.0:0.0	.	265;265	Q9P2N5;B3KY61	RBM27_HUMAN;.	Y	265	ENSP00000265271:S265Y	ENSP00000265271:S265Y	S	+	2	0	RBM27	145590617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.339000	0.43965	2.614000	0.88457	0.563000	0.77884	TCT		0.428	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		A	145610424	C	A	145610424	3	1	647	1	0	0	0	0	1	0	0	0	13133	913	32	4	816	4	RBM27	5	145610424	Missense_Mutation	SNP	C	TCGA-G7-6792-01A-21D-1961-08		145610424	35304836	7	35186											
ARSI	340075	hgsc.bcm.edu	37	5	149677576	149677576	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr5:149677576G>A	ENST00000328668.7	-	2	1490	c.911C>T	c.(910-912)tCg>tTg	p.S304L		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	304					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGCCCCCCGAGAAAGTCTG	0.587																																																0													36	32	34					5																	149677576		2199	4292	6491	SO:0001583	missense	340075			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.911C>T	chr5.hg19:g.149677576G>A	ENSP00000333395:p.Ser304Leu		A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	hg19	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361900	0.61403	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96745	-4.11;-4.11	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.059421	0.64402	D	0.000001	D	0.92473	0.7610	N	0.25426	0.745	0.54753	D	0.999982	B	0.18166	0.026	B	0.18263	0.021	D	0.89036	0.3445	10	0.22109	T	0.4	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	304	Q5FYB1	ARSI_HUMAN	L	304;161	ENSP00000333395:S304L;ENSP00000426879:S161L	ENSP00000333395:S304L	S	-	2	0	ARSI	149657769	1.000000	0.71417	0.961000	0.40146	0.945000	0.59286	7.738000	0.84966	2.460000	0.83146	0.561000	0.74099	TCG		0.587	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		A	149677576	G	A	149677576	3	1	647	1	0	0	0	0	1	0	0	0	994	1059	37	1	802	1	ARSI	5	149677576	Missense_Mutation	SNP	G	TCGA-G7-6792-01A-21D-1961-08	4067152	149677576	31237684	8	35187											
NDUFAF4	29078	hgsc.bcm.edu	37	6	97344647	97344647	+	Silent	SNP	A	A	G			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr6:97344647A>G	ENST00000316149.7	-	2	292	c.213T>C	c.(211-213)gaT>gaC	p.D71D	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	71					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						GATCTTTGGAATCAACATACA	0.358																																																0													148	149	149					6																	97344647		2203	4300	6503	SO:0001819	synonymous_variant	29078			AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"Mitochondrial respiratory chain complex assembly factors"	21034	protein-coding gene	gene with protein product		611776	"chromosome 6 open reading frame 66", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.213T>C	chr6.hg19:g.97344647A>G			B2R4J5	Silent	SNP	ENST00000316149.7	hg19	CCDS5037.1																																																																																				0.358	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165		G	97344647	A	G	97344647	2	3	647	1	0	0	0	0	0	0	0	1	10279	98	4	3		3	NDUFAF4	6	97344647	Silent	SNP	A	TCGA-G7-6792-01A-21D-1961-08		97344647	73770420	9	35188											
PABPC1	26986	hgsc.bcm.edu	37	8	101719226	101719226	+	Splice_Site	SNP	C	C	G	rs112580522		TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr8:101719226C>G	ENST00000318607.5	-	10	2465		c.e10-1		PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000522387.1_Splice_Site|PABPC1_ENST00000519596.1_Intron|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.?(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTTGGAATGCTGCATTTTAA	0.413																																																1	Unknown(1)	lung(1)											39	41	40					8																	101719226		2203	4300	6503	SO:0001630	splice_region_variant	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1337-1G>C	chr8.hg19:g.101719226C>G			Q15097|Q93004	Splice_Site	SNP	ENST00000318607.5	hg19	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096182	0.76870	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517403	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5891	0.99427	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PABPC1	101788402	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.388000	0.66249	2.876000	0.98609	0.650000	0.86243	.		0.413	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	Intron	G	101719226	C	G	101719226	5	3	647	1	0	0	0	0	0	0	1	0	11365	811	28	4	594	4	PABPC1	8	101719226	Splice_Site	SNP	C	TCGA-G7-6792-01A-21D-1961-08		101719226	44644796	10	35189											
TG	7038	hgsc.bcm.edu	37	8	133931710	133931710	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr8:133931710T>G	ENST00000220616.4	+	21	4508	c.4468T>G	c.(4468-4470)Tgt>Ggt	p.C1490G	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Missense_Mutation_p.C1490G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1490					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGCTTGGCCTGTGTCCCATG	0.478																																																0													141	112	122					8																	133931710		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4468T>G	chr8.hg19:g.133931710T>G	ENSP00000220616:p.Cys1490Gly		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	hg19	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.60|16.60	3.168293|3.168293	0.57584|0.57584	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616|ENST00000519178	D;D|.	0.86865|.	-2.18;-2.18|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Tyrosine-protein kinase ephrin type A/B receptor-like (1);|.	0.194939|.	0.36703|.	N|.	0.002444|.	T|T	0.80374|0.80374	0.4611|0.4611	H|H	0.97516|0.97516	4.02|4.02	0.28752|0.28752	N|N	0.90136|0.90136	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.80527|0.80527	-0.1343|-0.1343	10|5	0.87932|.	D|.	0|.	.|.	12.3216|12.3216	0.54987|0.54987	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1490|.	P01266|.	THYG_HUMAN|.	G|R	1490;296;1490|9	ENSP00000367100:C1490G;ENSP00000220616:C1490G|.	ENSP00000220616:C1490G|.	C|L	+|+	1|2	0|0	TG|TG	134000892|134000892	1.000000|1.000000	0.71417|0.71417	0.890000|0.890000	0.34922|0.34922	0.588000|0.588000	0.36517|0.36517	5.096000|5.096000	0.64535|0.64535	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	TGT|CTG		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		G	133931710	T	G	133931710	3	3	647	1	0	0	0	0	1	0	0	0	15818	1580	55	5	4550	5	TG	8	133931710	Missense_Mutation	SNP	T	TCGA-G7-6792-01A-21D-1961-08	32212484	133931710	12432312	11	35190											
ERLIN1	10613	hgsc.bcm.edu	37	10	101911987	101911987	+	Silent	SNP	A	A	G			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr10:101911987A>G	ENST00000421367.2	-	11	3655	c.948T>C	c.(946-948)taT>taC	p.Y316Y	ERLIN1_ENST00000407654.3_Silent_p.Y316Y	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	314					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		TAATATCTGAATATTTCAAAG	0.443																																																0													119	115	116					10																	101911987		2203	4300	6503	SO:0001819	synonymous_variant	10613			AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"	611604	"chromosome 10 open reading frame 69", "SPFH domain family, member 1"	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.948T>C	chr10.hg19:g.101911987A>G			B0QZ42|Q53HV0	Silent	SNP	ENST00000421367.2	hg19	CCDS7487.2																																																																																				0.443	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459		G	101911987	A	G	101911987	2	3	647	1	0	0	0	0	0	0	0	1	5234	108	4	3		3	ERLIN1	10	101911987	Silent	SNP	A	TCGA-G7-6792-01A-21D-1961-08		101911987	33622760	12	35191											
PPFIBP2	8495	hgsc.bcm.edu	37	11	7669667	7669667	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr11:7669667T>C	ENST00000299492.4	+	18	2084	c.1696T>C	c.(1696-1698)Tgg>Cgg	p.W566R	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.W408R|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.W423R|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.W454R	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	566	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGTGTGTGCATGGCTGGAGGA	0.547																																																0													165	124	138					11																	7669667		2201	4296	6497	SO:0001583	missense	8495			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1696T>C	chr11.hg19:g.7669667T>C	ENSP00000299492:p.Trp566Arg		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	hg19	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451254	0.84209	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.74	5.74	0.90152	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000001	D	0.82660	0.5085	H	0.95114	3.625	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.87696	0.2557	10	0.87932	D	0	-9.1173	13.9867	0.64339	0.0:0.0:0.0:1.0	.	454;454;489;408;423;566	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	R	566;408;489;454;423	ENSP00000299492:W566R;ENSP00000436498:W408R;ENSP00000435469:W454R;ENSP00000437321:W423R	ENSP00000299492:W566R	W	+	1	0	PPFIBP2	7626243	1.000000	0.71417	0.926000	0.36857	0.995000	0.86356	8.040000	0.89188	2.194000	0.70268	0.459000	0.35465	TGG		0.547	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		C	7669667	T	C	7669667	3	2	647	1	0	0	0	0	1	0	0	0	12316	1464	51	3	1762	3	PPFIBP2	11	7669667	Missense_Mutation	SNP	T	TCGA-G7-6792-01A-21D-1961-08		7669667	127336849	13	35192											
B3GNT6	192134	hgsc.bcm.edu	37	11	76751585	76751585	+	Splice_Site	SNP	T	T	C	rs11292199		TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr11:76751585T>C	ENST00000354301.5	+	4	1076	c.988T>C	c.(988-990)Tgg>Cgg	p.W330R	B3GNT6_ENST00000421061.1_Splice_Site|B3GNT6_ENST00000533140.1_Silent_p.P330P	NM_138706.3	NP_619651.3	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GAGGGCATCCTGGCCCTTCGG	0.697																																																0													6	5	6					11																	76751585		1175	2610	3785	SO:0001630	splice_region_variant	192134			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"Beta 3-glycosyltransferases"	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000354301.5:c.988-1T>C	chr11.hg19:g.76751585T>C			Q4TTN0	Splice_Site	SNP	ENST00000354301.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.007|0.007	-1.936685|-1.936685	0.00484|0.00484	.|.	.|.	ENSG00000198488|ENSG00000198488	ENST00000354301;ENST00000421061|ENST00000354301	.|T	.|0.24538	.|1.85	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.11024	.|0.0269	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26916	.|-1.0089	.|4	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|R	-1|330	.|ENSP00000346256:W330R	.|ENSP00000346256:W330R	.|W	+|+	.|1	.|0	B3GNT6|B3GNT6	76429233|76429233	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	0.000000|0.000000	0.12993|0.12993	0.000000|0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	.|TGG		0.697	B3GNT6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138706	Missense_Mutation	C	76751585	T	C	76751585	5	2	647	1	0	0	0	0	0	0	1	0	1261	1567	55	3	992	3	B3GNT6	11	76751585	Splice_Site	SNP	T	TCGA-G7-6792-01A-21D-1961-08	69081918	76751585	58254931	14	35193											
KLRK1	22914	hgsc.bcm.edu	37	12	10539567	10539567	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr12:10539567C>T	ENST00000240618.6	-	3	223	c.83G>A	c.(82-84)aGt>aAt	p.S28N	KLRK1_ENST00000540818.1_Missense_Mutation_p.S28N|RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	28					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TGAAAAATCACTCTTCTTCAG	0.363																																																0													171	159	163					12																	10539567		2203	4299	6502	SO:0001583	missense	0			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.83G>A	chr12.hg19:g.10539567C>T	ENSP00000240618:p.Ser28Asn		A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	ENST00000240618.6	hg19	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.506590	0.00992	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.01430	4.9;4.9	4.09	-8.18	0.01053	.	2.508350	0.01286	N	0.009885	T	0.00998	0.0033	L	0.29908	0.895	0.09310	N	1	B;B;B	0.21520	0.0;0.0;0.057	B;B;B	0.15870	0.0;0.001;0.014	T	0.48958	-0.8988	10	0.11794	T	0.64	.	1.9441	0.03353	0.1238:0.2263:0.3731:0.2768	.	28;9;28	Q8WZ67;Q1HEA1;P26718	.;.;NKG2D_HUMAN	N	28	ENSP00000240618:S28N;ENSP00000446003:S28N	ENSP00000240618:S28N	S	-	2	0	KLRK1	10430834	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.256000	0.00538	-1.778000	0.01282	-1.161000	0.01788	AGT		0.363	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360		T	10539567	C	T	10539567	3	4	647	1	0	0	0	0	1	0	0	0	8425	565	20	2	591	2	KLRK1	12	10539567	Missense_Mutation	SNP	C	TCGA-G7-6792-01A-21D-1961-08		10539567	123312328	15	35194											
KRR1	11103	hgsc.bcm.edu	37	12	75895546	75895546	+	Silent	SNP	T	T	C			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr12:75895546T>C	ENST00000229214.4	-	9	983	c.960A>G	c.(958-960)gcA>gcG	p.A320A	GLIPR1_ENST00000266659.3_3'UTR|KRR1_ENST00000438169.2_Silent_p.A263A	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	320	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GTGGAATAAATGCTTTGTTTC	0.279																																																0													125	123	124					12																	75895546		2203	4299	6502	SO:0001819	synonymous_variant	11103			U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.960A>G	chr12.hg19:g.75895546T>C			A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Silent	SNP	ENST00000229214.4	hg19	CCDS9012.1																																																																																				0.279	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		C	75895546	T	C	75895546	2	2	647	1	0	0	0	0	0	0	0	1	8448	1451	51	3		3	KRR1	12	75895546	Silent	SNP	T	TCGA-G7-6792-01A-21D-1961-08	65355979	75895546	57956349	16	35195											
GNPTAB	79158	hgsc.bcm.edu	37	12	102159058	102159058	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr12:102159058delA	ENST00000299314.7	-	13	1899	c.1637delT	c.(1636-1638)gtgfs	p.V546fs	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	546					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GAGAAGGATCACTTTATACAA	0.358																																																0													77	77	77					12																	102159058		2203	4300	6503	SO:0001589	frameshift_variant	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1637delT	chr12.hg19:g.102159058delA	ENSP00000299314:p.Val546fs		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Frame_Shift_Del	DEL	ENST00000299314.7	hg19	CCDS9088.1																																																																																				0.358	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			-	102159058	A	-	102159058	7	5	647	1	0	1	0	1	0	0	0	0	6547	159	6	0	2169	0	GNPTAB	12	102159058	Frame_Shift_Del	DEL	A	TCGA-G7-6792-01A-21D-1961-08	26263512	102159058	31692837	17	35196											
ACACB	32	hgsc.bcm.edu	37	12	109692084	109692084	+	Silent	SNP	C	C	T			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr12:109692084C>T	ENST00000338432.7	+	44	6230	c.6111C>T	c.(6109-6111)ctC>ctT	p.L2037L	ACACB_ENST00000543201.1_Silent_p.L703L|ACACB_ENST00000377848.3_Silent_p.L2037L|ACACB_ENST00000377854.5_Silent_p.L1967L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2037	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TTGAATTCCTCCCATCCAGAG	0.488																																																0													206	202	203					12																	109692084		2203	4300	6503	SO:0001819	synonymous_variant	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6111C>T	chr12.hg19:g.109692084C>T			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	hg19	CCDS31898.1																																																																																				0.488	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		T	109692084	C	T	109692084	2	4	647	1	0	0	0	0	0	0	0	1	107	842	30	2		2	ACACB	12	109692084	Silent	SNP	C	TCGA-G7-6792-01A-21D-1961-08	7533026	109692084	24159811	18	35197											
CDAN1	146059	hgsc.bcm.edu	37	15	43024004	43024004	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr15:43024004C>T	ENST00000356231.3	-	11	1576	c.1553G>A	c.(1552-1554)gGt>gAt	p.G518D		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	518					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCCCCCAGCACCACCAGGGCT	0.532																																																0													34	38	36					15																	43024004		2203	4299	6502	SO:0001583	missense	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1553G>A	chr15.hg19:g.43024004C>T	ENSP00000348564:p.Gly518Asp		Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	hg19	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	c	17.73	3.462735	0.63513	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86694	-2.16	5.85	4.9	0.64082	.	0.352932	0.32785	N	0.005652	D	0.88526	0.6460	L	0.41236	1.265	0.37581	D	0.919811	D	0.63046	0.992	P	0.57101	0.813	D	0.89548	0.3797	10	0.46703	T	0.11	-7.4334	16.3622	0.83271	0.1325:0.8675:0.0:0.0	.	518	Q8IWY9	CDAN1_HUMAN	D	518;516	ENSP00000348564:G518D	ENSP00000267892:G516D	G	-	2	0	CDAN1	40811296	0.601000	0.26907	0.996000	0.52242	0.629000	0.37895	3.677000	0.54619	2.773000	0.95371	0.651000	0.88453	GGT		0.532	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		T	43024004	C	T	43024004	3	4	647	1	0	0	0	0	1	0	0	0	3056	507	18	2	2202	2	CDAN1	15	43024004	Missense_Mutation	SNP	C	TCGA-G7-6792-01A-21D-1961-08		43024004	59507388	19	35198											
LACTB	114294	hgsc.bcm.edu	37	15	63414861	63414861	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr15:63414861delG	ENST00000261893.4	+	2	456	c.384delG	c.(382-384)gtgfs	p.V129fs	LACTB_ENST00000413507.2_Frame_Shift_Del_p.V129fs	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	129						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						CGGGCATAGTGGTTGGAGTTT	0.488																																					Melanoma(85;443 1381 6215 27308 35583)											0													169	148	155					15																	63414861		2203	4300	6503	SO:0001589	frameshift_variant	114294			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.384delG	chr15.hg19:g.63414861delG	ENSP00000261893:p.Val129fs		P83096	Frame_Shift_Del	DEL	ENST00000261893.4	hg19	CCDS10182.1																																																																																				0.488	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		-	63414861	G	-	63414861	7	5	647	1	0	1	0	1	0	0	0	0	8599	1335	47	0	390	0	LACTB	15	63414861	Frame_Shift_Del	DEL	G	TCGA-G7-6792-01A-21D-1961-08	20390857	63414861	39116531	20	35199											
KIAA1632	57724	hgsc.bcm.edu	37	18	43464597	43464598	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr18:43464597_43464598insAA	ENST00000282041.5	-	30	5322_5323	c.5288_5289insTT	c.(5287-5289)ttcfs	p.F1763fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1763					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTAGCAGCATGAAAATCATATC	0.421																																																0																																										SO:0001589	frameshift_variant	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5287_5288dupTT	chr18.hg19:g.43464600_43464601dupAA	ENSP00000282041:p.Phe1763fs		A2BDF3|Q9H8C8	Frame_Shift_Ins	INS	ENST00000282041.5	hg19	CCDS11926.2																																																																																				0.421	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		AA	43464598	-	AA	43464597	7	5	647	1	0	1	1	0	0	0	0	0	8251	1281	45	0	2510	0	KIAA1632	18	43464597	Frame_Shift_Ins	INS	-	TCGA-G7-6792-01A-21D-1961-08		43464597	34612651	21	35200											
TMPRSS9	360200	hgsc.bcm.edu	37	19	2421953	2421953	+	Silent	SNP	G	G	T	rs537200343		TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr19:2421953G>T	ENST00000332578.3	+	13	2154	c.2154G>T	c.(2152-2154)ccG>ccT	p.P718P		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	718	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTAAGAAGCCGGGCGTGTACA	0.632																																																0													77	71	73					19																	2421953		2203	4300	6503	SO:0001819	synonymous_variant	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2154G>T	chr19.hg19:g.2421953G>T			Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	hg19	CCDS12088.1																																																																																				0.632	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		T	2421953	G	T	2421953	2	4	647	1	0	0	0	0	0	0	0	1	16258	1103	39	4		4	TMPRSS9	19	2421953	Silent	SNP	G	TCGA-G7-6792-01A-21D-1961-08		2421953	56707030	22	35201											
CST9L	128821	hgsc.bcm.edu	37	20	23548869	23548869	+	Silent	SNP	G	G	T			TCGA-G7-6792-01A-21D-1961-08	TCGA-G7-6792-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	fcb71dd8-5625-4d0c-9148-b70199b7f6f3	381c414c-def1-4d55-95b5-9071eaf29fa6	g.chr20:23548869G>T	ENST00000376979.3	-	1	517	c.219C>A	c.(217-219)atC>atA	p.I73I		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	73						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGAATTCAAGATGTGCCCCA	0.547																																																0													155	122	133					20																	23548869		2203	4300	6503	SO:0001819	synonymous_variant	128821				CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"cystatin 9 (mouse)-like"			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.219C>A	chr20.hg19:g.23548869G>T			B2R5A1	Silent	SNP	ENST00000376979.3	hg19	CCDS13157.1																																																																																				0.547	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		T	23548869	G	T	23548869	2	4	647	1	0	0	0	0	0	0	0	1	3982	932	33	4		4	CST9L	20	23548869	Silent	SNP	G	TCGA-G7-6792-01A-21D-1961-08		23548869	39476651	23	35202											
PIK3CD	5293	hgsc.bcm.edu	37	1	9782066	9782066	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr1:9782066G>T	ENST00000377346.4	+	17	2284	c.2089G>T	c.(2089-2091)Gac>Tac	p.D697Y	PIK3CD_ENST00000543390.1_3'UTR|PIK3CD_ENST00000361110.2_Missense_Mutation_p.D721Y|PIK3CD_ENST00000536656.1_Missense_Mutation_p.D721Y	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	697					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GGCCCTGAATGACTTCGTCAA	0.637											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													74	84	81					1																	9782066		2203	4300	6503	SO:0001583	missense	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2089G>T	chr1.hg19:g.9782066G>T	ENSP00000366563:p.Asp697Tyr	659	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	hg19	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908660	0.33721	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	D;D;D	0.82081	-1.57;-1.57;-1.57	5.4	4.48	0.54585	Protein kinase-like domain (1);	0.151853	0.64402	D	0.000020	D	0.86339	0.5909	L	0.55990	1.75	0.80722	D	1	P;D;P	0.65815	0.939;0.995;0.939	P;P;P	0.57620	0.615;0.824;0.707	D	0.87479	0.2419	10	0.87932	D	0	-44.469	13.397	0.60858	0.0756:0.0:0.9244:0.0	.	696;721;697	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	Y	721;697;721;721	ENSP00000446444:D721Y;ENSP00000366563:D697Y;ENSP00000354410:D721Y	ENSP00000353766:D721Y	D	+	1	0	PIK3CD	9704653	1.000000	0.71417	0.063000	0.19743	0.112000	0.19704	7.859000	0.86982	1.275000	0.44379	0.561000	0.74099	GAC		0.637	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		T	9782066	G	T	9782066	3	4	648	1	0	0	0	0	1	0	0	0	11917	1290	45	4	2147	4	PIK3CD	1	9782066	Missense_Mutation	SNP	G	TCGA-G7-6793-01A-11D-1961-08		9782066	239468555	1	35203											
TAS1R2	80834	hgsc.bcm.edu	37	1	19186021	19186021	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr1:19186021A>T	ENST00000375371.3	-	1	155	c.134T>A	c.(133-135)aTg>aAg	p.M45K	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	45					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AATGCCCTTCATGTTGGCATG	0.592																																																0													118	109	112					1																	19186021		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.134T>A	chr1.hg19:g.19186021A>T	ENSP00000364520:p.Met45Lys		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	hg19	CCDS187.1	.	.	.	.	.	.	.	.	.	.	A	8.739	0.918447	0.17982	.	.	ENSG00000179002	ENST00000375371	D	0.88046	-2.33	4.47	2.07	0.26955	.	0.544004	0.13698	U	0.369069	T	0.74627	0.3741	N	0.22421	0.69	0.09310	N	0.999998	B	0.27068	0.167	B	0.18871	0.023	T	0.63093	-0.6714	10	0.52906	T	0.07	.	4.5956	0.12327	0.699:0.196:0.1051:0.0	.	45	Q8TE23	TS1R2_HUMAN	K	45	ENSP00000364520:M45K	ENSP00000364520:M45K	M	-	2	0	TAS1R2	19058608	0.239000	0.23836	0.384000	0.26145	0.776000	0.43924	1.724000	0.38064	0.201000	0.20466	0.260000	0.18958	ATG		0.592	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			T	19186021	A	T	19186021	3	4	648	1	0	0	0	0	1	0	0	0	15568	217	8	5	2409	5	TAS1R2	1	19186021	Missense_Mutation	SNP	A	TCGA-G7-6793-01A-11D-1961-08	9403955	19186021	230064600	2	35204											
LRRC8C	84230	hgsc.bcm.edu	37	1	90180336	90180336	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr1:90180336T>C	ENST00000370454.4	+	3	2462	c.2207T>C	c.(2206-2208)aTt>aCt	p.I736T	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	736					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ACTCTGAAGATTGGAAAAAAC	0.353																																																0													62	64	64					1																	90180336		2203	4300	6503	SO:0001583	missense	84230				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2207T>C	chr1.hg19:g.90180336T>C	ENSP00000359483:p.Ile736Thr		B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	hg19	CCDS725.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077889	0.36662	.	.	ENSG00000171488	ENST00000370454	T	0.27402	1.67	5.87	5.87	0.94306	.	0.047961	0.85682	D	0.000000	T	0.25791	0.0628	M	0.69358	2.11	0.53688	D	0.99997	B	0.21821	0.061	B	0.27715	0.082	T	0.08953	-1.0697	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	736	Q8TDW0	LRC8C_HUMAN	T	736	ENSP00000359483:I736T	ENSP00000359483:I736T	I	+	2	0	LRRC8C	89952924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	ATT		0.353	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		C	90180336	T	C	90180336	3	2	648	1	0	0	0	0	1	0	0	0	9025	1493	52	3	2213	3	LRRC8C	1	90180336	Missense_Mutation	SNP	T	TCGA-G7-6793-01A-11D-1961-08	70994315	90180336	159070285	3	35205											
VAV3	10451	hgsc.bcm.edu	37	1	108307784	108307784	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr1:108307784C>A	ENST00000370056.4	-	9	1109	c.835G>T	c.(835-837)Ggg>Tgg	p.G279W	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.G279W|VAV3_ENST00000371846.4_Missense_Mutation_p.G214W	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	279	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAGTACTGCCCGTAAATAACC	0.373																																																0													70	67	68					1																	108307784		2203	4300	6503	SO:0001583	missense	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.835G>T	chr1.hg19:g.108307784C>A	ENSP00000359073:p.Gly279Trp		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	hg19	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420776	0.83559	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846	T;T;T	0.64618	-0.11;-0.11;-0.11	5.55	5.55	0.83447	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	M	0.91459	3.21	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85946	0.1461	10	0.87932	D	0	.	19.506	0.95116	0.0:1.0:0.0:0.0	.	279;279;214;279	B7ZLR1;E9PQ97;B4DHL6;Q9UKW4	.;.;.;VAV3_HUMAN	W	279;279;214	ENSP00000359073:G279W;ENSP00000432540:G279W;ENSP00000360912:G214W	ENSP00000359073:G279W	G	-	1	0	VAV3	108109307	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.354000	0.79424	2.611000	0.88343	0.585000	0.79938	GGG		0.373	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		A	108307784	C	A	108307784	3	1	648	1	0	0	0	0	1	0	0	0	17138	652	23	4	1809	4	VAV3	1	108307784	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08	18127448	108307784	140942837	4	35206											
S100A3	6274	hgsc.bcm.edu	37	1	153520312	153520312	+	Missense_Mutation	SNP	C	C	A	rs566984814		TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr1:153520312C>A	ENST00000368713.3	-	3	348	c.152G>T	c.(151-153)cGg>cTg	p.R51L	S100A4_ENST00000481009.1_5'Flank|S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Missense_Mutation_p.R51L|S100A4_ENST00000368715.1_5'Flank|S100A4_ENST00000368716.4_5'Flank|S100A4_ENST00000354332.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	51	EF-hand 2.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACATTCCCGAAACTCAGT	0.542																																																0													203	182	189					1																	153520312		2203	4300	6503	SO:0001583	missense	6274			BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"S100 calcium binding proteins"	10493	protein-coding gene	gene with protein product		176992	"S100 calcium-binding protein A3"	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.152G>T	chr1.hg19:g.153520312C>A	ENSP00000357702:p.Arg51Leu		D3DV51|Q6FGE4	Missense_Mutation	SNP	ENST00000368713.3	hg19	CCDS1043.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222659	0.39300	.	.	ENSG00000188015	ENST00000368713;ENST00000368712	T;T	0.13420	2.59;2.59	4.85	0.804	0.18697	EF-hand-like domain (1);	0.648330	0.14896	N	0.292117	T	0.04137	0.0115	L	0.51422	1.61	0.09310	N	1	B	0.28055	0.199	B	0.20577	0.03	T	0.32375	-0.9909	10	0.72032	D	0.01	.	7.4533	0.27250	0.0:0.6319:0.0:0.3681	.	51	P33764	S10A3_HUMAN	L	51	ENSP00000357702:R51L;ENSP00000357701:R51L	ENSP00000357701:R51L	R	-	2	0	S100A3	151786936	0.010000	0.17322	0.027000	0.17364	0.562000	0.35680	0.709000	0.25734	-0.041000	0.13558	-0.136000	0.14681	CGG		0.542	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		A	153520312	C	A	153520312	3	1	648	1	0	0	0	0	1	0	0	0	13785	652	23	4	157	4	S100A3	1	153520312	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08	45212528	153520312	95730309	5	35207											
PRELP	5549	hgsc.bcm.edu	37	1	203455866	203455866	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr1:203455866C>A	ENST00000343110.2	+	3	1133	c.1006C>A	c.(1006-1008)Cta>Ata	p.L336I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	336					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCCAACGACCTAGTGGCGTT	0.567																																																0													110	100	103					1																	203455866		2203	4300	6503	SO:0001583	missense	5549			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.1006C>A	chr1.hg19:g.203455866C>A	ENSP00000343924:p.Leu336Ile		Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	hg19	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	C	1.678	-0.507353	0.04231	.	.	ENSG00000188783	ENST00000343110	T	0.49139	0.79	5.45	1.38	0.22167	.	0.097389	0.42964	N	0.000628	T	0.26557	0.0649	N	0.24115	0.695	0.19775	N	0.999957	B	0.06786	0.001	B	0.12156	0.007	T	0.15607	-1.0431	10	0.18710	T	0.47	-7.7426	5.6324	0.17518	0.2531:0.5559:0.1222:0.0687	.	336	P51888	PRELP_HUMAN	I	336	ENSP00000343924:L336I	ENSP00000343924:L336I	L	+	1	2	PRELP	201722489	0.003000	0.15002	0.003000	0.11579	0.246000	0.25737	-0.032000	0.12266	0.005000	0.14708	-0.300000	0.09419	CTA		0.567	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		A	203455866	C	A	203455866	3	1	648	1	0	0	0	0	1	0	0	0	12478	680	24	4	1012	4	PRELP	1	203455866	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08	49935554	203455866	45794755	6	35208											
CKAP2L	150468	hgsc.bcm.edu	37	2	113513875	113513875	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr2:113513875C>T	ENST00000302450.6	-	4	1151	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Missense_Mutation_p.S193N	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	358						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ACAAACTTGGCTGGACTTCTG	0.428																																																0													149	144	145					2																	113513875		2203	4300	6503	SO:0001583	missense	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1073G>A	chr2.hg19:g.113513875C>T	ENSP00000305204:p.Ser358Asn		A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	hg19	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	c	9.225	1.034367	0.19590	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.11821	2.74;3.39	4.69	-4.0	0.04057	.	0.732493	0.12806	N	0.437566	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34925	-0.9809	10	0.24483	T	0.36	-1.0892	0.994	0.01462	0.2342:0.3464:0.1852:0.2342	.	358	Q8IYA6	CKP2L_HUMAN	N	193;358	ENSP00000438763:S193N;ENSP00000305204:S358N	ENSP00000305204:S358N	S	-	2	0	CKAP2L	113230346	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.718000	0.04980	-0.903000	0.03881	-0.911000	0.02809	AGC		0.428	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		T	113513875	C	T	113513875	3	4	648	1	0	0	0	0	1	0	0	0	3445	797	28	2	1188	2	CKAP2L	2	113513875	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08		113513875	129685498	7	35209											
TTN	7273	hgsc.bcm.edu	37	2	179425266	179425266	+	Silent	SNP	A	A	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr2:179425266A>G	ENST00000591111.1	-	276	80894	c.80670T>C	c.(80668-80670)taT>taC	p.Y26890Y	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Y19658Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Y19591Y|TTN_ENST00000460472.2_Silent_p.Y19466Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.Y28531Y|TTN_ENST00000342992.6_Silent_p.Y25963Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26890	Fibronectin type-III 95. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCAACACCATATTTATTAA	0.388																																																0													57	56	56					2																	179425266		1865	4100	5965	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80670T>C	chr2.hg19:g.179425266A>G			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	Silent	SNP	ENST00000591111.1	hg19																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		G	179425266	A	G	179425266	2	3	648	1	0	0	0	0	0	0	0	1	16740	224	8	3		3	TTN	2	179425266	Silent	SNP	A	TCGA-G7-6793-01A-11D-1961-08	65911391	179425266	63774107	8	35210											
ITGA4	3676	hgsc.bcm.edu	37	2	182399601	182399601	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr2:182399601T>C	ENST00000397033.2	+	27	3372	c.2942T>C	c.(2941-2943)aTt>aCt	p.I981T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	981					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ATAGTGATTATTTCAAGTAGC	0.313																																																0													148	140	143					2																	182399601		1850	4088	5938	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2942T>C	chr2.hg19:g.182399601T>C	ENSP00000380227:p.Ile981Thr		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	hg19	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035378	0.75617	.	.	ENSG00000115232	ENST00000397033	T	0.74737	-0.87	6.17	6.17	0.99709	.	0.088153	0.85682	D	0.000000	T	0.78735	0.4330	M	0.78049	2.395	0.58432	D	0.999995	P	0.52577	0.954	P	0.45310	0.476	T	0.82464	-0.0444	10	0.87932	D	0	.	15.3933	0.74767	0.0:0.0:0.0:1.0	.	981	P13612	ITA4_HUMAN	T	981	ENSP00000380227:I981T	ENSP00000380227:I981T	I	+	2	0	ITGA4	182107846	1.000000	0.71417	0.171000	0.22900	0.989000	0.77384	5.141000	0.64814	2.371000	0.80710	0.533000	0.62120	ATT		0.313	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			C	182399601	T	C	182399601	3	2	648	1	0	0	0	0	1	0	0	0	7880	1493	52	3	3048	3	ITGA4	2	182399601	Missense_Mutation	SNP	T	TCGA-G7-6793-01A-11D-1961-08	2974335	182399601	60799772	9	35211											
NBEAL1	65065	hgsc.bcm.edu	37	2	204058575	204058575	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr2:204058575G>T	ENST00000449802.1	+	46	7225	c.6892G>T	c.(6892-6894)Gac>Tac	p.D2298Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2298										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACCAAAATAGACACTTCAAC	0.343																																																0													157	157	157					2																	204058575		1870	4098	5968	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6892G>T	chr2.hg19:g.204058575G>T	ENSP00000399903:p.Asp2298Tyr		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	hg19	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486179	0.63962	.	.	ENSG00000144426	ENST00000449802;ENST00000414576	T;T	0.56776	0.44;1.1	5.43	5.43	0.79202	.	0.063926	0.64402	U	0.000013	T	0.66684	0.2814	M	0.77103	2.36	0.58432	D	0.999999	P	0.49862	0.929	P	0.51487	0.671	T	0.67385	-0.5684	10	0.39692	T	0.17	.	18.8378	0.92169	0.0:0.0:1.0:0.0	.	2298	Q6ZS30	NBEL1_HUMAN	Y	2298;313	ENSP00000399903:D2298Y;ENSP00000388466:D313Y	ENSP00000388466:D313Y	D	+	1	0	NBEAL1	203766820	1.000000	0.71417	0.973000	0.42090	0.900000	0.52787	9.028000	0.93712	2.550000	0.86006	0.650000	0.86243	GAC		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			T	204058575	G	T	204058575	3	4	648	1	0	0	0	0	1	0	0	0	10190	942	33	4	7070	4	NBEAL1	2	204058575	Missense_Mutation	SNP	G	TCGA-G7-6793-01A-11D-1961-08	21658974	204058575	39140798	10	35212											
SLC9A10	285335	hgsc.bcm.edu	37	3	111918287	111918287	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr3:111918287C>T	ENST00000305815.5	-	20	2656	c.2404G>A	c.(2404-2406)Gct>Act	p.A802T	SLC9C1_ENST00000487372.1_Missense_Mutation_p.A754T	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	802					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ACAGTGACAGCAATTTCTGGG	0.279																																																0													73	73	73					3																	111918287		2201	4297	6498	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2404G>A	chr3.hg19:g.111918287C>T	ENSP00000306627:p.Ala802Thr		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	hg19	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990748	0.54041	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.80480	-1.35;-1.38	5.55	2.81	0.32909	.	0.221517	0.31577	N	0.007408	T	0.81264	0.4786	M	0.65498	2.005	0.27008	N	0.96476	P;D	0.59767	0.855;0.986	P;P	0.52909	0.713;0.655	T	0.71745	-0.4500	10	0.33940	T	0.23	.	7.6697	0.28451	0.0:0.7356:0.0:0.2644	.	754;802	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	T	802;754	ENSP00000306627:A802T;ENSP00000420688:A754T	ENSP00000306627:A802T	A	-	1	0	SLC9A10	113400977	0.902000	0.30710	0.686000	0.30086	0.473000	0.32948	1.823000	0.39062	0.310000	0.22990	-0.140000	0.14226	GCT		0.279	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		T	111918287	C	T	111918287	3	4	648	1	0	0	0	0	1	0	0	0	14716	710	25	2	1169	2	SLC9A10	3	111918287	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08		111918287	86104143	11	35213											
TMCC1	23023	hgsc.bcm.edu	37	3	129390056	129390056	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr3:129390056A>T	ENST00000393238.3	-	4	968	c.628T>A	c.(628-630)Tcc>Acc	p.S210T	TMCC1_ENST00000426664.2_Missense_Mutation_p.S96T|TMCC1_ENST00000329333.5_Missense_Mutation_p.S31T|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	210						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCGGTACTGGAGGCCACTGCA	0.522																																																0													86	82	83					3																	129390056		2203	4300	6503	SO:0001583	missense	23023			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.628T>A	chr3.hg19:g.129390056A>T	ENSP00000376930:p.Ser210Thr		A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	hg19	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356489	0.61293	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.45276	1.5;1.49;0.9	5.86	5.86	0.93980	.	0.163105	0.56097	D	0.000032	T	0.27134	0.0665	N	0.12182	0.205	0.43385	D	0.995495	B;B	0.13145	0.007;0.002	B;B	0.09377	0.004;0.002	T	0.08472	-1.0720	10	0.20046	T	0.44	-7.6554	16.2449	0.82437	1.0:0.0:0.0:0.0	.	31;210	B4DE04;O94876	.;TMCC1_HUMAN	T	210;96;31	ENSP00000376930:S210T;ENSP00000389892:S96T;ENSP00000327349:S31T	ENSP00000327349:S31T	S	-	1	0	TMCC1	130872746	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.138000	0.77305	2.241000	0.73720	0.482000	0.46254	TCC		0.522	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		T	129390056	A	T	129390056	3	4	648	1	0	0	0	0	1	0	0	0	15997	304	11	5	1345	5	TMCC1	3	129390056	Missense_Mutation	SNP	A	TCGA-G7-6793-01A-11D-1961-08	17471769	129390056	68632374	12	35214											
N4BP2	55728	hgsc.bcm.edu	37	4	40103811	40103811	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr4:40103811A>G	ENST00000261435.6	+	4	762	c.346A>G	c.(346-348)Ata>Gta	p.I116V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	116					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGAAAGTAAAATAATGGAAAA	0.368																																																0													92	90	91					4																	40103811		2203	4300	6503	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.346A>G	chr4.hg19:g.40103811A>G	ENSP00000261435:p.Ile116Val		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	hg19	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	0.424	-0.906575	0.02434	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.79247	-1.25;-1.25	6.08	1.18	0.20946	.	0.531518	0.19034	N	0.124467	T	0.52451	0.1735	N	0.12746	0.255	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.14578	0.011;0.003	T	0.37291	-0.9712	10	0.02654	T	1	-6.4549	8.9819	0.35970	0.7223:0.0:0.2777:0.0	.	116;116	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	V	116;36;36	ENSP00000261435:I116V;ENSP00000422057:I36V	ENSP00000261435:I116V	I	+	1	0	N4BP2	39780206	0.971000	0.33674	0.507000	0.27676	0.442000	0.32017	0.597000	0.24059	0.543000	0.28864	0.482000	0.46254	ATA		0.368	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		G	40103811	A	G	40103811	3	3	648	1	0	0	0	0	1	0	0	0	10112	101	4	3	352	3	N4BP2	4	40103811	Missense_Mutation	SNP	A	TCGA-G7-6793-01A-11D-1961-08		40103811	151050465	13	35215											
DAGLB	221955	hgsc.bcm.edu	37	7	6474439	6474439	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr7:6474439C>A	ENST00000297056.6	-	4	801	c.632G>T	c.(631-633)cGg>cTg	p.R211L	DAGLB_ENST00000436575.1_Missense_Mutation_p.R170L|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000428902.2_Missense_Mutation_p.R84L	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	211					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AAAAGCAACCCGAGTATGGTC	0.463																																																0													160	154	156					7																	6474439		2203	4300	6503	SO:0001583	missense	221955			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.632G>T	chr7.hg19:g.6474439C>A	ENSP00000297056:p.Arg211Leu		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	hg19	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898081	0.91962	.	.	ENSG00000164535	ENST00000297056;ENST00000436575;ENST00000471132;ENST00000428902	T;T	0.48836	0.81;0.8	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.56140	0.1965	M	0.84433	2.695	0.80722	D	1	P	0.41498	0.752	B	0.38842	0.283	T	0.64032	-0.6502	10	0.42905	T	0.14	.	18.8048	0.92032	0.0:1.0:0.0:0.0	.	211	Q8NCG7	DGLB_HUMAN	L	211;170;211;84	ENSP00000297056:R211L;ENSP00000404785:R170L	ENSP00000297056:R211L	R	-	2	0	DAGLB	6440964	1.000000	0.71417	0.088000	0.20740	0.980000	0.70556	4.539000	0.60657	2.431000	0.82371	0.491000	0.48974	CGG		0.463	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		A	6474439	C	A	6474439	3	1	648	1	0	0	0	0	1	0	0	0	4229	652	23	4	1434	4	DAGLB	7	6474439	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08		6474439	152664224	14	35216											
TSGA13	114960	hgsc.bcm.edu	37	7	130353922	130353922	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr7:130353922C>A	ENST00000456951.1	-	9	1611	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	COPG2_ENST00000445977.2_5'Flank|TSGA13_ENST00000356588.3_Missense_Mutation_p.G254W			Q96PP4	TSG13_HUMAN	testis specific, 13	254										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GCGCTCTCCCCGGGCGCGGTT	0.592																																																0													100	106	104					7																	130353922		2203	4300	6503	SO:0001583	missense	114960			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.760G>T	chr7.hg19:g.130353922C>A	ENSP00000406047:p.Gly254Trp		B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	hg19	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584905	0.65992	.	.	ENSG00000213265	ENST00000456951;ENST00000356588	.	.	.	5.51	5.51	0.81932	.	0.000000	0.49916	D	0.000130	T	0.66915	0.2838	L	0.34521	1.04	0.41776	D	0.989791	D	0.89917	1.0	D	0.97110	1.0	T	0.70029	-0.4984	9	0.87932	D	0	-16.3429	14.8978	0.70656	0.0:1.0:0.0:0.0	.	254	Q96PP4	TSG13_HUMAN	W	254	.	ENSP00000348996:G254W	G	-	1	0	TSGA13	130004462	0.467000	0.25831	0.776000	0.31678	0.138000	0.21146	3.831000	0.55776	2.585000	0.87301	0.561000	0.74099	GGG		0.592	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		A	130353922	C	A	130353922	3	1	648	1	0	0	0	0	1	0	0	0	16624	652	23	4	71	4	TSGA13	7	130353922	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08	123879483	130353922	28784741	15	35217											
PKN3	29941	hgsc.bcm.edu	37	9	131482023	131482023	+	Silent	SNP	C	C	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr9:131482023C>A	ENST00000291906.4	+	19	2577	c.2184C>A	c.(2182-2184)ccC>ccA	p.P728P	PKN3_ENST00000485301.1_3'UTR|ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	728	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TCCTGGCTCCCGAGGTGCTGA	0.632																																																0													144	151	149					9																	131482023		2203	4300	6503	SO:0001819	synonymous_variant	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2184C>A	chr9.hg19:g.131482023C>A			Q9UM03	Silent	SNP	ENST00000291906.4	hg19	CCDS6908.1																																																																																				0.632	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		A	131482023	C	A	131482023	2	1	648	1	0	0	0	0	0	0	0	1	11983	639	23	4		4	PKN3	9	131482023	Silent	SNP	C	TCGA-G7-6793-01A-11D-1961-08		131482023	9731408	16	35218											
ITGA8	8516	hgsc.bcm.edu	37	10	15688933	15688933	+	Silent	SNP	G	G	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr10:15688933G>A	ENST00000378076.3	-	12	1472	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	373					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGATCTGGGGGTCTCTGAAGA	0.483																																																0													122	109	113					10																	15688933		2203	4300	6503	SO:0001819	synonymous_variant	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1119C>T	chr10.hg19:g.15688933G>A			B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	hg19	CCDS31155.1																																																																																				0.483	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		A	15688933	G	A	15688933	2	1	648	1	0	0	0	0	0	0	0	1	7884	1252	44	2		2	ITGA8	10	15688933	Silent	SNP	G	TCGA-G7-6793-01A-11D-1961-08		15688933	119845814	17	35219											
CUBN	8029	hgsc.bcm.edu	37	10	16916468	16916468	+	Silent	SNP	G	G	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr10:16916468G>T	ENST00000377833.4	-	58	9206	c.9141C>A	c.(9139-9141)atC>atA	p.I3047I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3047	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACTTGTGATGATTCCAGAAG	0.433																																																0													168	135	146					10																	16916468		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9141C>A	chr10.hg19:g.16916468G>T			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	hg19	CCDS7113.1																																																																																				0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		T	16916468	G	T	16916468	2	4	648	1	0	0	0	0	0	0	0	1	4053	1280	45	4		4	CUBN	10	16916468	Silent	SNP	G	TCGA-G7-6793-01A-11D-1961-08	1227535	16916468	118618279	18	35220											
UBTD1	80019	hgsc.bcm.edu	37	10	99327795	99327795	+	Silent	SNP	G	G	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr10:99327795G>A	ENST00000370664.3	+	2	531	c.195G>A	c.(193-195)aaG>aaA	p.K65K		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	65										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		AGGGCCGCAAGGAGATCTGGG	0.632																																					Pancreas(100;169 2668 32720)											0													87	86	86					10																	99327795		2203	4300	6503	SO:0001819	synonymous_variant	80019			BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.195G>A	chr10.hg19:g.99327795G>A			D3DR57|Q53HI3	Silent	SNP	ENST00000370664.3	hg19	CCDS7465.1																																																																																				0.632	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		A	99327795	G	A	99327795	2	1	648	1	0	0	0	0	0	0	0	1	16912	991	35	2		2	UBTD1	10	99327795	Silent	SNP	G	TCGA-G7-6793-01A-11D-1961-08	82411327	99327795	36206952	19	35221											
TCF7L2	6934	hgsc.bcm.edu	37	10	114912175	114912175	+	Silent	SNP	C	C	A	rs149820593		TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr10:114912175C>A	ENST00000355995.4	+	11	1752	c.1245C>A	c.(1243-1245)ccC>ccA	p.P415P	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000534894.1_Silent_p.P415P|TCF7L2_ENST00000352065.5_Silent_p.P392P|TCF7L2_ENST00000545257.1_Silent_p.P415P|TCF7L2_ENST00000369389.1_Silent_p.P126P|TCF7L2_ENST00000538897.1_Silent_p.P415P|TCF7L2_ENST00000542695.1_Silent_p.P131P|TCF7L2_ENST00000536810.1_Silent_p.P415P|TCF7L2_ENST00000355717.4_Silent_p.P439P|TCF7L2_ENST00000369397.4_Silent_p.P392P|TCF7L2_ENST00000369386.1_Silent_p.P58P|TCF7L2_ENST00000543371.1_Silent_p.P415P			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	415					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AACTGTACCCCGGCTGGTCCG	0.542			T	VTI1A	colorectal																																		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													128	134	132					10																	114912175		2203	4300	6503	SO:0001819	synonymous_variant	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1245C>A	chr10.hg19:g.114912175C>A			B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	hg19																																																																																					0.542	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		A	114912175	C	A	114912175	2	1	648	1	0	0	0	0	0	0	0	1	15703	639	23	4		4	TCF7L2	10	114912175	Silent	SNP	C	TCGA-G7-6793-01A-11D-1961-08	15584380	114912175	20622572	20	35222											
ATE1	11101	hgsc.bcm.edu	37	10	123658376	123658376	+	Intron	DEL	C	C	-	rs150970157		TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr10:123658376delC	ENST00000224652.6	-	7	1028				ATE1_ENST00000540606.1_Frame_Shift_Del_p.D301fs|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000369040.3_Frame_Shift_Del_p.D212fs|ATE1_ENST00000369043.3_Frame_Shift_Del_p.D308fs|ATE1_ENST00000535655.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CCACATTCATCGGGTGGATCC	0.423																																																0													189	157	168					10																	123658376		2203	4300	6503	SO:0001627	intron_variant	11101			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.942+1004G>-	chr10.hg19:g.123658376delC			O95261|Q5SQQ3|Q8WW04	Frame_Shift_Del	DEL	ENST00000224652.6	hg19	CCDS31300.1																																																																																				0.423	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		-	123658376	C	-	123658376	6	5	648	0	1	1	0	1	0	0	0	0	1078	884	31	0		0	ATE1	10	123658376	Intron	DEL	C	TCGA-G7-6793-01A-11D-1961-08	8746201	123658376	11876371	21	35223											
CNIH2	254263	hgsc.bcm.edu	37	11	66049735	66049735	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr11:66049735A>G	ENST00000311445.6	+	2	345	c.87A>G	c.(85-87)atA>atG	p.I29M	CNIH2_ENST00000528852.1_Missense_Mutation_p.I29M|YIF1A_ENST00000526497.1_5'Flank|CNIH2_ENST00000530519.1_3'UTR	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	29					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCAGATCATAGCCTTTGATG	0.597																																																0													72	66	68					11																	66049735		2200	4295	6495	SO:0001583	missense	254263			BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"cornichon homolog 2 (Drosophila)"			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.87A>G	chr11.hg19:g.66049735A>G	ENSP00000310003:p.Ile29Met			Missense_Mutation	SNP	ENST00000311445.6	hg19	CCDS8131.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634157	0.47049	.	.	ENSG00000174871	ENST00000528852;ENST00000311445	T;T	0.55760	0.5;0.5	5.33	1.49	0.22878	.	0.000000	0.85682	D	0.000000	T	0.68869	0.3048	M	0.89478	3.035	0.58432	D	0.999998	D;D	0.71674	0.961;0.998	P;D	0.68483	0.791;0.958	T	0.68221	-0.5466	10	0.59425	D	0.04	-24.0482	4.9261	0.13894	0.3807:0.2295:0.0:0.3897	.	29;29	Q6PI25;E9PS15	CNIH2_HUMAN;.	M	29	ENSP00000432177:I29M;ENSP00000310003:I29M	ENSP00000310003:I29M	I	+	3	3	CNIH2	65806311	0.998000	0.40836	1.000000	0.80357	0.547000	0.35210	1.267000	0.33050	0.919000	0.36945	0.460000	0.39030	ATA		0.597	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391892.1	NM_182553		G	66049735	A	G	66049735	3	3	648	1	0	0	0	0	1	0	0	0	3605	410	15	3	93	3	CNIH2	11	66049735	Missense_Mutation	SNP	A	TCGA-G7-6793-01A-11D-1961-08		66049735	68956781	22	35224											
EXPH5	23086	hgsc.bcm.edu	37	11	108380880	108380880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr11:108380880C>T	ENST00000265843.4	-	6	5464	c.5354G>A	c.(5353-5355)tGg>tAg	p.W1785*	EXPH5_ENST00000428840.1_Nonsense_Mutation_p.W1709*|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.W1597*|EXPH5_ENST00000525344.1_Nonsense_Mutation_p.W1778*	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1785					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCAGGTTCCCACTCCAGAGA	0.483																																																0													89	96	94					11																	108380880		2201	4298	6499	SO:0001587	stop_gained	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5354G>A	chr11.hg19:g.108380880C>T	ENSP00000265843:p.Trp1785*		Q2KHM1|Q9Y4D6	Nonsense_Mutation	SNP	ENST00000265843.4	hg19	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	41	8.551547	0.98859	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312	.	.	.	6.17	4.26	0.50523	.	0.766008	0.12354	N	0.476287	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	1.7662	10.3652	0.44019	0.0:0.497:0.431:0.0721	.	.	.	.	X	1785;1709;1597;1778;615;1709	.	ENSP00000265843:W1785X	W	-	2	0	EXPH5	107886090	0.060000	0.20803	0.159000	0.22649	0.035000	0.12851	0.897000	0.28390	0.883000	0.36040	0.655000	0.94253	TGG		0.483	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		T	108380880	C	T	108380880	4	4	648	1	0	0	0	0	0	1	0	0	5324	595	21	2	619	2	EXPH5	11	108380880	Nonsense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08	42331145	108380880	26625636	23	35225											
NCAPD2	9918	hgsc.bcm.edu	37	12	6637024	6637024	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr12:6637024C>A	ENST00000315579.5	+	23	3788	c.2989C>A	c.(2989-2991)Cgt>Agt	p.R997S	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952S	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	997					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.R997C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGAACTAATCCGTGGCATCTG	0.493																																																1	Substitution - Missense(1)	endometrium(1)											132	132	132					12																	6637024		2203	4300	6503	SO:0001583	missense	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2989C>A	chr12.hg19:g.6637024C>A	ENSP00000325017:p.Arg997Ser		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	hg19	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385823	0.61956	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.12672	2.66;2.66;2.66	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.60455	1.87	0.58432	D	0.999997	D;B;D	0.57899	0.981;0.021;0.968	P;B;P	0.60886	0.88;0.051;0.66	T	0.00126	-1.2020	10	0.34782	T	0.22	-16.4149	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	952;958;997	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	S	997;869;952;869	ENSP00000325017:R997S;ENSP00000371895:R869S;ENSP00000444417:R952S	ENSP00000325017:R997S	R	+	1	0	NCAPD2	6507285	1.000000	0.71417	0.954000	0.39281	0.127000	0.20565	3.691000	0.54720	2.824000	0.97209	0.655000	0.94253	CGT		0.493	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		A	6637024	C	A	6637024	3	1	648	1	0	0	0	0	1	0	0	0	10207	652	23	4	3075	4	NCAPD2	12	6637024	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08		6637024	127214871	24	35226											
OR4N4	283694	hgsc.bcm.edu	37	15	22382930	22382930	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr15:22382930T>C	ENST00000328795.4	+	1	549	c.458T>C	c.(457-459)tTt>tCt	p.F153S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTGGGGGTTTTGTCCACTCC	0.527																																																0													100	87	91					15																	22382930		2187	4254	6441	SO:0001583	missense	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.458T>C	chr15.hg19:g.22382930T>C	ENSP00000332500:p.Phe153Ser		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	hg19	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.238759	0.22711	.	.	ENSG00000183706	ENST00000328795	T	0.00216	8.53	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.00412	0.0013	M	0.62723	1.935	0.09310	N	1	D	0.67145	0.996	D	0.74348	0.983	T	0.47873	-0.9083	10	0.87932	D	0	-8.9888	10.041	0.42158	0.0:0.0:0.0:1.0	.	153	Q8N0Y3	OR4N4_HUMAN	S	153	ENSP00000332500:F153S	ENSP00000332500:F153S	F	+	2	0	OR4N4	19884294	0.006000	0.16342	0.918000	0.36340	0.103000	0.19146	1.078000	0.30754	1.522000	0.49001	0.332000	0.21555	TTT		0.527	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			C	22382930	T	C	22382930	3	2	648	1	0	0	0	0	1	0	0	0	11080	1841	64	3	460	3	OR4N4	15	22382930	Missense_Mutation	SNP	T	TCGA-G7-6793-01A-11D-1961-08		22382930	80148462	25	35227											
HERC1	8925	hgsc.bcm.edu	37	15	63955402	63955402	+	Splice_Site	SNP	C	C	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr15:63955402C>A	ENST00000443617.2	-	44	8769	c.8682G>T	c.(8680-8682)gcG>gcT	p.A2894A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2894					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTATAATCCCGCTCAGAACA	0.408																																																0													113	110	111					15																	63955402		1844	4089	5933	SO:0001630	splice_region_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8681-1G>T	chr15.hg19:g.63955402C>A			Q8IW65	Silent	SNP	ENST00000443617.2	hg19	CCDS45277.1																																																																																				0.408	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	Silent	A	63955402	C	A	63955402	5	1	648	1	0	0	0	0	0	0	1	0	7059	666	23	4	6043	4	HERC1	15	63955402	Splice_Site	SNP	C	TCGA-G7-6793-01A-11D-1961-08	41572472	63955402	38575990	26	35228											
SMG1	23049	hgsc.bcm.edu	37	16	18856756	18856756	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr16:18856756T>C	ENST00000446231.2	-	39	6626	c.6214A>G	c.(6214-6216)Aaa>Gaa	p.K2072E	SMG1_ENST00000389467.3_Missense_Mutation_p.K2072E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2072					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTACCTCTTTAAATGGAATC	0.408																																																0													57	52	54					16																	18856756		1866	4105	5971	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6214A>G	chr16.hg19:g.18856756T>C	ENSP00000402515:p.Lys2072Glu		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	hg19	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237482	0.79800	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.80824	-1.42;-1.42	5.79	5.79	0.91817	Protein kinase-like domain (1);Armadillo-type fold (1);	0.080055	0.53938	D	0.000055	D	0.90249	0.6951	M	0.86178	2.8	0.80722	D	1	D;P	0.56035	0.974;0.743	D;B	0.67725	0.953;0.305	D	0.91308	0.5072	10	0.59425	D	0.04	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	1932;2072	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	E	2072	ENSP00000402515:K2072E;ENSP00000374118:K2072E	ENSP00000374118:K2072E	K	-	1	0	SMG1	18764257	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.155000	0.71833	2.209000	0.71365	0.533000	0.62120	AAA		0.408	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		C	18856756	T	C	18856756	3	2	648	1	0	0	0	0	1	0	0	0	14801	1763	61	3	4871	3	SMG1	16	18856756	Missense_Mutation	SNP	T	TCGA-G7-6793-01A-11D-1961-08		18856756	71497997	27	35229											
PDILT	204474	hgsc.bcm.edu	37	16	20376785	20376785	+	Silent	SNP	G	G	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr16:20376785G>A	ENST00000302451.4	-	9	1442	c.1194C>T	c.(1192-1194)aaC>aaT	p.N398N		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	398	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGACGACTACGTTGAAGTTCT	0.448																																																0													175	164	168					16																	20376785		2203	4300	6503	SO:0001819	synonymous_variant	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1194C>T	chr16.hg19:g.20376785G>A			Q8IVQ5	Silent	SNP	ENST00000302451.4	hg19	CCDS10584.1																																																																																				0.448	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		A	20376785	G	A	20376785	2	1	648	1	0	0	0	0	0	0	0	1	11676	1136	40	1		1	PDILT	16	20376785	Silent	SNP	G	TCGA-G7-6793-01A-11D-1961-08	1520029	20376785	69977968	28	35230											
AXIN2	8313	hgsc.bcm.edu	37	17	63533065	63533065	+	Missense_Mutation	SNP	C	C	A	rs376248072		TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr17:63533065C>A	ENST00000307078.5	-	7	2142	c.1829G>T	c.(1828-1830)cGg>cTg	p.R610L	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	610				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TCCTTCCTCCCGGGGAAGCTG	0.687									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																							0													63	62	63					17																	63533065		2203	4300	6503	SO:0001583	missense	8313	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000307078.5:c.1829G>T	chr17.hg19:g.63533065C>A	ENSP00000302625:p.Arg610Leu		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000307078.5	hg19	CCDS11662.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679471	0.29783	.	.	ENSG00000168646	ENST00000307078	T	0.62232	0.04	5.24	3.07	0.35406	.	0.703317	0.14743	N	0.301042	T	0.43743	0.1261	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.39583	-0.9607	10	0.48119	T	0.1	-6.532	15.2767	0.73748	0.0:0.5155:0.4845:0.0	.	610	Q9Y2T1	AXIN2_HUMAN	L	610	ENSP00000302625:R610L	ENSP00000302625:R610L	R	-	2	0	AXIN2	60963527	0.021000	0.18746	0.945000	0.38365	0.886000	0.51366	1.270000	0.33086	1.153000	0.42468	0.561000	0.74099	CGG		0.687	AXIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445900.1	NM_004655		A	63533065	C	A	63533065	3	1	648	1	0	0	0	0	1	0	0	0	1237	652	23	4	722	4	AXIN2	17	63533065	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08		63533065	17662145	29	35231											
SLC26A11	284129	hgsc.bcm.edu	37	17	78219988	78219988	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr17:78219988C>A	ENST00000361193.3	+	12	1413	c.1133C>A	c.(1132-1134)cCg>cAg	p.P378Q	SLC26A11_ENST00000411502.3_Missense_Mutation_p.P378Q|SLC26A11_ENST00000546047.2_Missense_Mutation_p.P378Q|SLC26A11_ENST00000572725.1_Missense_Mutation_p.P378Q	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTGTGCACCCCGGCGGGGGGC	0.667																																																0													49	59	56					17																	78219988		2200	4296	6496	SO:0001583	missense	284129				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1133C>A	chr17.hg19:g.78219988C>A	ENSP00000355384:p.Pro378Gln			Missense_Mutation	SNP	ENST00000361193.3	hg19	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562831	0.45694	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92858	-3.12;-3.12;-3.12	4.12	4.12	0.48240	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	L	0.49778	1.585	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	D	0.92074	0.5667	10	0.40728	T	0.16	-23.4884	10.8479	0.46753	0.0:0.9073:0.0:0.0927	.	378	Q86WA9	S2611_HUMAN	Q	378	ENSP00000403998:P378Q;ENSP00000440724:P378Q;ENSP00000355384:P378Q	ENSP00000355384:P378Q	P	+	2	0	SLC26A11	75834583	0.955000	0.32602	0.990000	0.47175	0.148000	0.21650	2.113000	0.41902	2.270000	0.75569	0.491000	0.48974	CCG		0.667	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			A	78219988	C	A	78219988	3	1	648	1	0	0	0	0	1	0	0	0	14522	652	23	4	1171	4	SLC26A11	17	78219988	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08	14686923	78219988	2975222	30	35232											
SYT5	6861	hgsc.bcm.edu	37	19	55685920	55685920	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr19:55685920C>T	ENST00000354308.3	-	8	1294	c.925G>A	c.(925-927)Gct>Act	p.A309T	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.A305T|SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000537500.1_Missense_Mutation_p.A309T	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	309	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AAGCTGAAAGCTTCGTTGTAA	0.527																																																0													190	182	185					19																	55685920		2203	4300	6503	SO:0001583	missense	6861			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.925G>A	chr19.hg19:g.55685920C>T	ENSP00000346265:p.Ala309Thr		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	hg19	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144796	0.57044	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.67345	-0.26;-0.26	3.42	1.23	0.21249	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.175642	0.49305	D	0.000147	T	0.38401	0.1039	N	0.03071	-0.42	0.38441	D	0.946694	B;B;B	0.27594	0.081;0.102;0.182	B;B;B	0.32465	0.146;0.026;0.092	T	0.23048	-1.0199	10	0.66056	D	0.02	.	5.0538	0.14522	0.4913:0.4025:0.0:0.1062	.	305;308;309	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	T	309;309;305	ENSP00000442896:A309T;ENSP00000346265:A309T	ENSP00000346265:A309T	A	-	1	0	SYT5	60377732	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.882000	0.28186	0.442000	0.26555	0.561000	0.74099	GCT		0.527	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		T	55685920	C	T	55685920	3	4	648	1	0	0	0	0	1	0	0	0	15482	797	28	2	243	2	SYT5	19	55685920	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08		55685920	3443063	31	35233											
ZNF549	256051	hgsc.bcm.edu	37	19	58049607	58049607	+	Missense_Mutation	SNP	C	C	G	rs531934209		TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr19:58049607C>G	ENST00000376233.3	+	4	1416	c.1235C>G	c.(1234-1236)aCg>aGg	p.T412R	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.T399R	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAATCCACACGGGAGAAAGG	0.433																																																0													58	59	59					19																	58049607		2203	4300	6503	SO:0001583	missense	256051			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"Zinc fingers, C2H2-type", "-"	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1235C>G	chr19.hg19:g.58049607C>G	ENSP00000365407:p.Thr412Arg		B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	hg19	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153855	0.57259	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.25749	1.78;1.78	2.35	-0.274	0.12910	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37489	0.1005	L	0.46885	1.475	0.31073	N	0.712839	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.39683	-0.9602	9	0.72032	D	0.01	.	6.4994	0.22160	0.0:0.6894:0.1838:0.1268	.	412;399	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	R	399;412	ENSP00000240719:T399R;ENSP00000365407:T412R	ENSP00000240719:T399R	T	+	2	0	ZNF549	62741419	0.892000	0.30473	0.923000	0.36655	0.989000	0.77384	2.036000	0.41165	0.319000	0.23209	0.585000	0.79938	ACG		0.433	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		G	58049607	C	G	58049607	3	3	648	1	0	0	0	0	1	0	0	0	17986	536	19	4	1206	4	ZNF549	19	58049607	Missense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08	2363687	58049607	1079376	32	35234											
ZIK1	284307	hgsc.bcm.edu	37	19	58101980	58101980	+	Missense_Mutation	SNP	G	G	C	rs577749417		TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr19:58101980G>C	ENST00000597850.1	+	4	1016	c.801G>C	c.(799-801)tgG>tgC	p.W267C	ZIK1_ENST00000536878.2_Missense_Mutation_p.W254C|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.W212C	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGGCCTTGGGAGTGCAATG	0.473																																																0													58	59	58					19																	58101980		2203	4300	6503	SO:0001583	missense	284307			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"Zinc fingers, C2H2-type", "-"	33104	protein-coding gene	gene with protein product			"zinc finger protein interacting with K protein 1 homolog (mouse)"				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.801G>C	chr19.hg19:g.58101980G>C	ENSP00000472867:p.Trp267Cys		O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	hg19	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497409	0.44455	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.17691	2.26	3.37	-2.36	0.06663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09992	0.0245	N	0.01438	-0.865	0.09310	N	0.999996	D;D	0.69078	0.997;0.993	P;P	0.60173	0.821;0.87	T	0.15178	-1.0446	9	0.87932	D	0	.	2.8351	0.05512	0.1183:0.0948:0.3259:0.4609	.	254;267	F5H435;Q3SY52	.;ZIK1_HUMAN	C	254;248;267	ENSP00000438487:W254C	ENSP00000303820:W267C	W	+	3	0	ZIK1	62793792	0.000000	0.05858	0.000000	0.03702	0.547000	0.35210	-1.932000	0.01554	-0.690000	0.05142	-0.182000	0.12963	TGG		0.473	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		C	58101980	G	C	58101980	3	2	648	1	0	0	0	0	1	0	0	0	17688	1241	43	4	815	4	ZIK1	19	58101980	Missense_Mutation	SNP	G	TCGA-G7-6793-01A-11D-1961-08	52373	58101980	1027003	33	35235											
USP25	29761	hgsc.bcm.edu	37	21	17138432	17138432	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr21:17138432C>G	ENST00000285679.6	+	3	609	c.240C>G	c.(238-240)taC>taG	p.Y80*	USP25_ENST00000285681.2_Nonsense_Mutation_p.Y80*|USP25_ENST00000351097.5_Nonsense_Mutation_p.Y80*|USP25_ENST00000400183.2_Nonsense_Mutation_p.Y80*	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	80	SUMO interaction domain (SIM).				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATGATAGATACATCAGTGTGG	0.368																																																0													108	98	101					21																	17138432		2203	4300	6503	SO:0001587	stop_gained	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.240C>G	chr21.hg19:g.17138432C>G	ENSP00000285679:p.Tyr80*		C0LSZ0|Q6DHZ9|Q9H9W1	Nonsense_Mutation	SNP	ENST00000285679.6	hg19	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	c	36	5.933887	0.97122	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	.	.	.	5.42	0.564	0.17302	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7186	0.40289	0.0:0.6591:0.0:0.3409	.	.	.	.	X	80	.	ENSP00000285679:Y80X	Y	+	3	2	USP25	16060303	0.926000	0.31397	0.996000	0.52242	0.828000	0.46876	0.110000	0.15437	0.035000	0.15519	-0.993000	0.02533	TAC		0.368	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			G	17138432	C	G	17138432	4	3	648	1	0	0	0	0	0	1	0	0	17061	489	17	4	250	4	USP25	21	17138432	Nonsense_Mutation	SNP	C	TCGA-G7-6793-01A-11D-1961-08		17138432	30991463	34	35236											
RBBP7	5931	hgsc.bcm.edu	37	X	16864059	16864059	+	Silent	SNP	A	A	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chrX:16864059A>G	ENST00000380087.2	-	11	1461	c.1101T>C	c.(1099-1101)ttT>ttC	p.F367F	RBBP7_ENST00000404022.1_Silent_p.F358F|RBBP7_ENST00000380084.4_Silent_p.F411F			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	367					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CTCCATGAATAAACTGTTACA	0.363																																																0													59	54	56					X																	16864059		2203	4300	6503	SO:0001819	synonymous_variant	5931			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"WD repeat domain containing"	9890	protein-coding gene	gene with protein product	"G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46"	300825	"retinoblastoma-binding protein 7"			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.1101T>C	chrX.hg19:g.16864059A>G			Q5JP00	Silent	SNP	ENST00000380087.2	hg19	CCDS14179.1																																																																																				0.363	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		G	16864059	A	G	16864059	2	3	648	1	0	0	0	0	0	0	0	1	13110	359	13	3		3	RBBP7	23	16864059	Silent	SNP	A	TCGA-G7-6793-01A-11D-1961-08		16864059	138406501	35	35237											
ARHGEF6	9459	hgsc.bcm.edu	37	X	135825892	135825892	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chrX:135825892A>T	ENST00000250617.6	-	5	1718	c.513T>A	c.(511-513)ttT>ttA	p.F171L	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.F17L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.F17L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.F17L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	171	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TAGTCTGCTTAAAGTTGAATC	0.413																																																0													193	158	170					X																	135825892		2203	4300	6503	SO:0001583	missense	9459			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.513T>A	chrX.hg19:g.135825892A>T	ENSP00000250617:p.Phe171Leu		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	hg19	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525856	0.85600	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.08	2.47	0.30058	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.58763	-0.7579	10	0.72032	D	0.01	.	8.7263	0.34471	0.7085:0.0:0.2915:0.0	.	17;171	B7Z3C7;Q15052	.;ARHG6_HUMAN	L	171;17;17;17;17	ENSP00000250617:F171L;ENSP00000359654:F17L;ENSP00000359656:F17L;ENSP00000439483:F17L	ENSP00000250617:F171L	F	-	3	2	ARHGEF6	135653558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.119000	0.50422	0.071000	0.16664	0.486000	0.48141	TTT		0.413	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		T	135825892	A	T	135825892	3	4	648	1	0	0	0	0	1	0	0	0	910	359	13	5	1889	5	ARHGEF6	23	135825892	Missense_Mutation	SNP	A	TCGA-G7-6793-01A-11D-1961-08	118961833	135825892	19444668	36	35238											
TPRG1L	127262	hgsc.bcm.edu	37	1	3544177	3544177	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr1:3544177C>A	ENST00000378344.2	+	4	655	c.584C>A	c.(583-585)cCg>cAg	p.P195Q	TPRG1L_ENST00000344579.5_Missense_Mutation_p.P136Q|RP11-46F15.2_ENST00000435049.1_RNA	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	195						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		ACAGAACACCCGATGGCTGGC	0.537																																																0													144	145	145					1																	3544177		2203	4300	6503	SO:0001583	missense	127262			BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"family with sequence similarity 79, member A"	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.584C>A	chr1.hg19:g.3544177C>A	ENSP00000367595:p.Pro195Gln		A8K1K4|Q8WV04	Missense_Mutation	SNP	ENST00000378344.2	hg19	CCDS47.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343531	0.82022	.	.	ENSG00000158109	ENST00000378344;ENST00000456805;ENST00000344579	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.83248	0.5213	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86311	0.1686	9	0.87932	D	0	-0.7616	17.1228	0.86706	0.0:1.0:0.0:0.0	.	136;195	Q5T0D9-2;Q5T0D9	.;TPRGL_HUMAN	Q	195;152;136	.	ENSP00000339714:P136Q	P	+	2	0	TPRG1L	3534037	1.000000	0.71417	0.980000	0.43619	0.972000	0.66771	5.803000	0.69129	2.282000	0.76494	0.563000	0.77884	CCG		0.537	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1	NM_182752		A	3544177	C	A	3544177	3	1	649	1	0	0	0	0	1	0	0	0	16424	652	23	4	598	4	TPRG1L	1	3544177	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08		3544177	245706444	1	35239											
CC2D1B	200014	hgsc.bcm.edu	37	1	52819228	52819228	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr1:52819228G>C	ENST00000371586.2	-	24	2678	c.2540C>G	c.(2539-2541)aCt>aGt	p.T847S	CC2D1B_ENST00000460261.1_5'UTR|RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000284376.3_Missense_Mutation_p.T841S	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	847						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CCAGTTCTCAGTGACCATCTG	0.592																																																0													48	46	47					1																	52819228		2203	4300	6503	SO:0001583	missense	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2540C>G	chr1.hg19:g.52819228G>C	ENSP00000360642:p.Thr847Ser		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	hg19	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.43|16.43	3.121445|3.121445	0.56613|0.56613	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000450942|ENST00000371586;ENST00000284376	.|T;T	.|0.21543	.|2.0;2.0	4.97|4.97	4.06|4.06	0.47325|0.47325	.|.	.|0.215167	.|0.44483	.|D	.|0.000459	T|T	0.27524|0.27524	0.0676|0.0676	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|P;P	.|0.43477	.|0.808;0.757	.|P;B	.|0.46026	.|0.501;0.327	T|T	0.03051|0.03051	-1.1078|-1.1078	5|10	.|0.48119	.|T	.|0.1	-6.0069|-6.0069	13.5782|13.5782	0.61888|0.61888	0.0745:0.0:0.9255:0.0|0.0745:0.0:0.9255:0.0	.|.	.|841;847	.|Q5T0F9-2;Q5T0F9	.|.;C2D1B_HUMAN	V|S	761|847;841	.|ENSP00000360642:T847S;ENSP00000284376:T841S	.|ENSP00000284376:T841S	L|T	-|-	1|2	2|0	CC2D1B|CC2D1B	52591816|52591816	1.000000|1.000000	0.71417|0.71417	0.830000|0.830000	0.32933|0.32933	0.821000|0.821000	0.46438|0.46438	6.187000|6.187000	0.72039|0.72039	1.323000|1.323000	0.45263|0.45263	0.561000|0.561000	0.74099|0.74099	CTG|ACT		0.592	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		C	52819228	G	C	52819228	3	2	649	1	0	0	0	0	1	0	0	0	2729	1029	36	4	40	4	CC2D1B	1	52819228	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08	49275051	52819228	196431393	2	35240											
DPYD	1806	hgsc.bcm.edu	37	1	98058809	98058809	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr1:98058809T>A	ENST00000370192.3	-	10	1193	c.1093A>T	c.(1093-1095)Aaa>Taa	p.K365*		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	365					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ACAAAGCCTTTTCTGAAGACG	0.448																																																0													119	116	117					1																	98058809		2203	4300	6503	SO:0001587	stop_gained	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1093A>T	chr1.hg19:g.98058809T>A	ENSP00000359211:p.Lys365*		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Nonsense_Mutation	SNP	ENST00000370192.3	hg19	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	39	7.840231	0.98519	.	.	ENSG00000188641	ENST00000370192	.	.	.	6.17	6.17	0.99709	.	0.048348	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.3061	15.3933	0.74767	0.0:0.0:0.0:1.0	.	.	.	.	X	365	.	ENSP00000359211:K365X	K	-	1	0	DPYD	97831397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.664000	0.68045	2.371000	0.80710	0.533000	0.62120	AAA		0.448	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		A	98058809	T	A	98058809	4	1	649	1	0	0	0	0	0	1	0	0	4747	1850	64	5	2040	5	DPYD	1	98058809	Nonsense_Mutation	SNP	T	TCGA-G7-6795-01A-11D-1961-08	45239581	98058809	151191812	3	35241											
RHBG	57127	hgsc.bcm.edu	37	1	156347130	156347130	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr1:156347130G>C	ENST00000368249.1	+	2	264	c.226G>C	c.(226-228)Ggc>Cgc	p.G76R	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000255013.3_Missense_Mutation_p.G7R|RHBG_ENST00000451864.2_Missense_Mutation_p.G7R|RHBG_ENST00000400992.2_Missense_Mutation_p.G7R|RHBG_ENST00000368246.2_Missense_Mutation_p.G76R	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	76			G -> D (in dbSNP:rs2245623). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.5}.		ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CGTGGGCTTTGGCTTCCTCAT	0.637																																																0													142	144	143					1																	156347130		2203	4300	6503	SO:0001583	missense	57127			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.226G>C	chr1.hg19:g.156347130G>C	ENSP00000357232:p.Gly76Arg		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	hg19		.	.	.	.	.	.	.	.	.	.	G	29.7	5.031766	0.93575	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013;ENST00000451864	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	4.86	4.86	0.63082	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	D	0.91744	0.7389	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93736	0.7046	10	0.87932	D	0	-6.6399	16.7188	0.85405	0.0:0.0:1.0:0.0	.	76;7;113	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	R	76;76;7;7;7	ENSP00000357232:G76R;ENSP00000357229:G76R;ENSP00000383777:G7R;ENSP00000255013:G7R;ENSP00000389836:G7R	ENSP00000255013:G7R	G	+	1	0	RHBG	154613754	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.365000	0.73090	2.512000	0.84698	0.561000	0.74099	GGC		0.637	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		C	156347130	G	C	156347130	3	2	649	1	0	0	0	0	1	0	0	0	13330	1348	47	4	232	4	RHBG	1	156347130	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08	58288321	156347130	92903491	4	35242											
ADAM17	6868	hgsc.bcm.edu	37	2	9645412	9645412	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:9645412T>G	ENST00000310823.3	-	12	1609	c.1427A>C	c.(1426-1428)aAa>aCa	p.K476T	RP11-400L8.2_ENST00000480764.1_RNA|RP11-400L8.2_ENST00000472619.1_RNA	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	476	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCCACAAACTTTATTGCTGCG	0.438																																																0													178	155	163					2																	9645412		2203	4300	6503	SO:0001583	missense	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1427A>C	chr2.hg19:g.9645412T>G	ENSP00000309968:p.Lys476Thr		O60226	Missense_Mutation	SNP	ENST00000310823.3	hg19	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056207	0.36277	.	.	ENSG00000151694	ENST00000310823	T	0.21191	2.02	5.66	3.33	0.38152	Blood coagulation inhibitor, Disintegrin (1);	0.226724	0.51477	D	0.000087	T	0.18718	0.0449	L	0.46670	1.46	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.03325	-1.1048	10	0.48119	T	0.1	.	9.5244	0.39156	0.0:0.1409:0.0:0.8591	.	476;476	B2RNB2;P78536	.;ADA17_HUMAN	T	476	ENSP00000309968:K476T	ENSP00000309968:K476T	K	-	2	0	ADAM17	9562863	1.000000	0.71417	0.994000	0.49952	0.915000	0.54546	3.947000	0.56652	0.444000	0.26612	0.460000	0.39030	AAA		0.438	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			G	9645412	T	G	9645412	3	3	649	1	0	0	0	0	1	0	0	0	238	1841	64	5	1079	5	ADAM17	2	9645412	Missense_Mutation	SNP	T	TCGA-G7-6795-01A-11D-1961-08		9645412	233553961	5	35243											
MYCN	4613	hgsc.bcm.edu	37	2	16082320	16082321	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:16082320_16082321insG	ENST00000281043.3	+	2	431_432	c.134_135insG	c.(133-138)ccggggfs	p.PG45fs	MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000448719.1_RNA|MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000439180.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	45					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TCGACCCCCCCGGGGGAGGACA	0.644			A		neuroblastoma																																		Dom	yes		2	2p24.1	4613	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"		O	0			GRCh37	CI084293	MYCN	I																																				SO:0001589	frameshift_variant	4613			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.139dupG	chr2.hg19:g.16082325_16082325dupG	ENSP00000281043:p.Pro45fs		Q53XS5|Q6LDT9	Frame_Shift_Ins	INS	ENST00000281043.3	hg19	CCDS1687.1																																																																																				0.644	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		G	16082321	-	G	16082320	7	5	649	1	0	1	1	0	0	0	0	0	10023	652	23	0	136	0	MYCN	2	16082320	Frame_Shift_Ins	INS	-	TCGA-G7-6795-01A-11D-1961-08	6436908	16082320	227117053	6	35244											
APOB	338	hgsc.bcm.edu	37	2	21260848	21260848	+	Silent	SNP	G	G	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:21260848G>A	ENST00000233242.1	-	5	646	c.519C>T	c.(517-519)gcC>gcT	p.A173A	APOB_ENST00000399256.4_Silent_p.A173A	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	173	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACTTGCTTGGCTTCTTCTG	0.458																																																0													128	129	129					2																	21260848		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.519C>T	chr2.hg19:g.21260848G>A			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	hg19	CCDS1703.1																																																																																				0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			A	21260848	G	A	21260848	2	1	649	1	0	0	0	0	0	0	0	1	785	1335	47	2		2	APOB	2	21260848	Silent	SNP	G	TCGA-G7-6795-01A-11D-1961-08	5178528	21260848	221938525	7	35245											
ATAD2B	54454	hgsc.bcm.edu	37	2	24051776	24051776	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:24051776C>A	ENST00000238789.5	-	15	2105	c.1762G>T	c.(1762-1764)Gac>Tac	p.D588Y	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	588						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATTCCAGTCCCTGGTATGG	0.333																																																0													121	114	116					2																	24051776		1842	4090	5932	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1762G>T	chr2.hg19:g.24051776C>A	ENSP00000238789:p.Asp588Tyr		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	hg19	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944509	0.53079	.	.	ENSG00000119778	ENST00000238789;ENST00000458510	D;D	0.94931	-3.56;-1.77	4.7	4.7	0.59300	.	.	.	.	.	D	0.95023	0.8389	L	0.60957	1.885	0.49299	D	0.999776	D	0.54047	0.964	P	0.53912	0.737	D	0.95210	0.8324	9	0.72032	D	0.01	.	14.2998	0.66339	0.1494:0.8506:0.0:0.0	.	588	Q9ULI0	ATD2B_HUMAN	Y	588;26	ENSP00000238789:D588Y;ENSP00000392764:D26Y	ENSP00000238789:D588Y	D	-	1	0	ATAD2B	23905280	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.884000	0.56175	2.551000	0.86045	0.650000	0.86243	GAC		0.333	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		A	24051776	C	A	24051776	3	1	649	1	0	0	0	0	1	0	0	0	1072	855	30	4	2670	4	ATAD2B	2	24051776	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	2790928	24051776	219147597	8	35246											
ITSN2	50618	hgsc.bcm.edu	37	2	24509153	24509155	+	In_Frame_Del	DEL	TTC	TTC	-	rs201163358		TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:24509153_24509155delTTC	ENST00000355123.4	-	16	2232_2234	c.1789_1791delGAA	c.(1789-1791)gaadel	p.E597del	ITSN2_ENST00000361999.3_In_Frame_Del_p.E597del|ITSN2_ENST00000406921.3_In_Frame_Del_p.E597del	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	597					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTAACTGTTCTTTAAGTCTT	0.286																																																0																																										SO:0001651	inframe_deletion	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1789_1791delGAA	chr2.hg19:g.24509153_24509155delTTC	ENSP00000347244:p.Glu597del		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	In_Frame_Del	DEL	ENST00000355123.4	hg19	CCDS1710.2																																																																																				0.286	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		-	24509155	TTC	-	24509153	7	5	649	1	0	1	0	1	0	0	0	0	7929	1722	60	0	3453	0	ITSN2	2	24509153	In_Frame_Del	DEL	TTC	TCGA-G7-6795-01A-11D-1961-08	457377	24509153	218690220	9	35247											
AGBL5	60509	hgsc.bcm.edu	37	2	27291539	27291539	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:27291539A>G	ENST00000360131.4	+	13	2441	c.2282A>G	c.(2281-2283)gAg>gGg	p.E761G		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	761					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAAACCAGAGGCTGTCATG	0.512																																																0													84	85	85					2																	27291539		2203	4300	6503	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2282A>G	chr2.hg19:g.27291539A>G	ENSP00000353249:p.Glu761Gly		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	hg19	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	A	10.83	1.459849	0.26248	.	.	ENSG00000084693	ENST00000360131	T	0.17370	2.28	5.61	4.46	0.54185	.	0.426245	0.25285	N	0.031768	T	0.10723	0.0262	N	0.19112	0.55	0.32634	N	0.521593	B	0.13145	0.007	B	0.09377	0.004	T	0.03641	-1.1017	10	0.87932	D	0	-0.026	7.4869	0.27439	0.9054:0.0:0.0946:0.0	.	761	Q8NDL9	CBPC5_HUMAN	G	761	ENSP00000353249:E761G	ENSP00000353249:E761G	E	+	2	0	AGBL5	27145043	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	2.781000	0.47750	2.123000	0.65237	0.459000	0.35465	GAG		0.512	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		G	27291539	A	G	27291539	3	3	649	1	0	0	0	0	1	0	0	0	378	304	11	3	2393	3	AGBL5	2	27291539	Missense_Mutation	SNP	A	TCGA-G7-6795-01A-11D-1961-08	2782386	27291539	215907834	10	35248											
SLC4A5	57835	hgsc.bcm.edu	37	2	74458396	74458396	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:74458396C>A	ENST00000423644.1	-	24	3032	c.2635G>T	c.(2635-2637)Ggg>Tgg	p.G879W	SLC4A5_ENST00000394019.2_Silent_p.T938T|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Silent_p.T938T|SLC4A5_ENST00000346834.4_Silent_p.T938T|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Silent_p.T938T|SLC4A5_ENST00000359484.4_Silent_p.T836T|SLC4A5_ENST00000377634.4_Silent_p.T938T|SLC4A5_ENST00000358683.4_Silent_p.T836T					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGAGATTCCCGTCAGGATGA	0.562																																																0													179	146	157					2																	74458396		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000423644.1:c.2635G>T	chr2.hg19:g.74458396C>A	ENSP00000395804:p.Gly879Trp			Silent	SNP	ENST00000423644.1	hg19		.	.	.	.	.	.	.	.	.	.	C	5.936	0.356646	0.11239	.	.	ENSG00000188687	ENST00000423644;ENST00000425249	T;T	0.74315	-0.83;-0.47	4.47	-8.36	0.00980	.	.	.	.	.	T	0.52996	0.1769	.	.	.	0.19575	N	0.999969	B	0.11235	0.004	B	0.09377	0.004	T	0.41070	-0.9529	8	0.59425	D	0.04	.	1.6798	0.02830	0.3015:0.1537:0.0994:0.4453	.	841	E7EQT3	.	W	879;841	ENSP00000395804:G879W;ENSP00000405678:G841W	ENSP00000395804:G879W	G	-	1	0	SLC4A5	74311904	0.000000	0.05858	0.373000	0.26003	0.924000	0.55760	-4.346000	0.00249	-2.458000	0.00538	-2.805000	0.00112	GGG		0.562	SLC4A5-204	KNOWN	basic	protein_coding	protein_coding				A	74458396	C	A	74458396	3	1	649	1	0	0	0	0	1	0	0	0	14663	639	23	4	627	4	SLC4A5	2	74458396	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	47166857	74458396	168740977	11	35249											
SEMA4F	10505	hgsc.bcm.edu	37	2	74906851	74906851	+	Silent	SNP	C	C	A	rs367999393		TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:74906851C>A	ENST00000357877.2	+	14	1977	c.1828C>A	c.(1828-1830)Cgg>Agg	p.R610R	SEMA4F_ENST00000339773.5_Silent_p.R455R|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	610	Ig-like C2-type.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						ACTCACCCCCCGGCGGGATGG	0.627																																																0													73	72	73					2																	74906851		2203	4300	6503	SO:0001819	synonymous_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1828C>A	chr2.hg19:g.74906851C>A			Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	hg19	CCDS1955.1																																																																																				0.627	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		A	74906851	C	A	74906851	2	1	649	1	0	0	0	0	0	0	0	1	14041	643	23	4		4	SEMA4F	2	74906851	Silent	SNP	C	TCGA-G7-6795-01A-11D-1961-08	448455	74906851	168292522	12	35250											
SNRNP200	23020	hgsc.bcm.edu	37	2	96953697	96953697	+	Missense_Mutation	SNP	C	C	A	rs397514574		TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:96953697C>A	ENST00000323853.5	-	25	3346	c.3269G>T	c.(3268-3270)cGg>cTg	p.R1090L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1090	SEC63 1.		R -> L (in RP33). {ECO:0000269|PubMed:19710410}.		ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCGCATCAACCGGCCAGCCGA	0.502																																																0													126	111	116					2																	96953697		2203	4300	6503	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3269G>T	chr2.hg19:g.96953697C>A	ENSP00000317123:p.Arg1090Leu		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	hg19	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016736	0.93404	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.70869	-0.52	5.3	5.3	0.74995	Sec63 domain (3);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92387	0.5918	10	0.87932	D	0	-19.469	17.8872	0.88861	0.0:1.0:0.0:0.0	.	1090	O75643	U520_HUMAN	L	1090;765	ENSP00000317123:R1090L	ENSP00000317123:R1090L	R	-	2	0	SNRNP200	96317424	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	7.570000	0.82390	2.755000	0.94549	0.561000	0.74099	CGG		0.502	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		A	96953697	C	A	96953697	3	1	649	1	0	0	0	0	1	0	0	0	14858	652	23	4	3225	4	SNRNP200	2	96953697	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	22046846	96953697	146245676	13	35251											
NEB	4703	hgsc.bcm.edu	37	2	152522655	152522655	+	Silent	SNP	G	G	T	rs142074817	byFrequency	TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:152522655G>T	ENST00000172853.10	-	41	5127	c.4980C>A	c.(4978-4980)ccC>ccA	p.P1660P	NEB_ENST00000604864.1_Silent_p.P1660P|NEB_ENST00000397345.3_Silent_p.P1660P|NEB_ENST00000427231.2_Silent_p.P1660P|NEB_ENST00000603639.1_Silent_p.P1660P|NEB_ENST00000409198.1_Silent_p.P1660P			P20929	NEBU_HUMAN	nebulin	1660					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAAGGCATCGGGCAGGAGAG	0.488																																																0													268	262	264					2																	152522655		2077	4215	6292	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4980C>A	chr2.hg19:g.152522655G>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	hg19																																																																																					0.488	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		T	152522655	G	T	152522655	2	4	649	1	0	0	0	0	0	0	0	1	10304	1103	39	4		4	NEB	2	152522655	Silent	SNP	G	TCGA-G7-6795-01A-11D-1961-08	55568958	152522655	90676718	14	35252											
UBR3	130507	hgsc.bcm.edu	37	2	170843280	170843281	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:170843280_170843281insT	ENST00000272793.5	+	25	3810_3811	c.3760_3761insT	c.(3760-3762)gttfs	p.V1254fs	UBR3_ENST00000418381.1_Frame_Shift_Ins_p.V1254fs|UBR3_ENST00000392631.1_Frame_Shift_Ins_p.V75fs			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1254					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TACTGGATTAGTTGTACTGTTA	0.396																																																0																																										SO:0001589	frameshift_variant	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3762dupT	chr2.hg19:g.170843282_170843282dupT	ENSP00000272793:p.Val1254fs		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Frame_Shift_Ins	INS	ENST00000272793.5	hg19																																																																																					0.396	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		T	170843281	-	T	170843280	7	5	649	1	0	1	1	0	0	0	0	0	16908	1029	36	0	3858	0	UBR3	2	170843280	Frame_Shift_Ins	INS	-	TCGA-G7-6795-01A-11D-1961-08	18320625	170843280	72356093	15	35253											
FRZB	2487	hgsc.bcm.edu	37	2	183699593	183699593	+	Silent	SNP	G	G	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:183699593G>T	ENST00000295113.4	-	6	1570	c.961C>A	c.(961-963)Cgg>Agg	p.R321R		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	321					brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CGTGCTTGCCGGGGGTTCGAG	0.443																																																0													125	120	122					2																	183699593		2203	4300	6503	SO:0001819	synonymous_variant	2487			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.961C>A	chr2.hg19:g.183699593G>T			O00181|Q99686	Silent	SNP	ENST00000295113.4	hg19	CCDS2286.1																																																																																				0.443	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		T	183699593	G	T	183699593	2	4	649	1	0	0	0	0	0	0	0	1	6067	1115	39	4		4	FRZB	2	183699593	Silent	SNP	G	TCGA-G7-6795-01A-11D-1961-08	12856313	183699593	59499780	16	35254											
FAM171B	165215	hgsc.bcm.edu	37	2	187627072	187627072	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:187627072C>A	ENST00000304698.5	+	8	2206	c.2003C>A	c.(2002-2004)cCg>cAg	p.P668Q		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	668						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGCCCTCCCCGCATCCCAGA	0.483																																																0													77	86	83					2																	187627072		2203	4300	6503	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2003C>A	chr2.hg19:g.187627072C>A	ENSP00000304108:p.Pro668Gln		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	hg19	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938791	0.34189	.	.	ENSG00000144369	ENST00000304698	T	0.37235	1.21	6.02	6.02	0.97574	.	0.110302	0.64402	D	0.000005	T	0.39963	0.1098	L	0.47016	1.485	0.37615	D	0.92108	P;P	0.36027	0.533;0.533	B;B	0.37091	0.241;0.241	T	0.41698	-0.9494	10	0.87932	D	0	-16.1339	20.547	0.99278	0.0:1.0:0.0:0.0	.	668;669	Q6P995;A8K122	F171B_HUMAN;.	Q	668	ENSP00000304108:P668Q	ENSP00000304108:P668Q	P	+	2	0	FAM171B	187335317	0.987000	0.35691	0.821000	0.32701	0.569000	0.35902	4.610000	0.61155	2.850000	0.98022	0.650000	0.86243	CCG		0.483	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		A	187627072	C	A	187627072	3	1	649	1	0	0	0	0	1	0	0	0	5493	652	23	4	2033	4	FAM171B	2	187627072	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	3927479	187627072	55572301	17	35255											
NDUFS1	4719	hgsc.bcm.edu	37	2	207006722	207006724	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:207006722_207006724delAGA	ENST00000233190.6	-	12	1469_1471	c.1203_1205delTCT	c.(1201-1206)cttctg>ctg	p.401_402LL>L	NDUFS1_ENST00000455934.2_In_Frame_Del_p.415_416LL>L|NDUFS1_ENST00000449699.1_In_Frame_Del_p.401_402LL>L|NDUFS1_ENST00000432169.1_In_Frame_Del_p.290_291LL>L|NDUFS1_ENST00000423725.1_In_Frame_Del_p.344_345LL>L|NDUFS1_ENST00000457011.1_In_Frame_Del_p.285_286LL>L|NDUFS1_ENST00000440274.1_In_Frame_Del_p.365_366LL>L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	401					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTACCAACCAGAAGAACAACAT	0.325																																																0																																										SO:0001651	inframe_deletion	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1203_1205delTCT	chr2.hg19:g.207006725_207006727delAGA	ENSP00000233190:p.Leu402del		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	In_Frame_Del	DEL	ENST00000233190.6	hg19	CCDS2366.1																																																																																				0.325	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		-	207006724	AGA	-	207006722	7	5	649	1	0	1	0	1	0	0	0	0	10293	188	7	0	1010	0	NDUFS1	2	207006722	In_Frame_Del	DEL	AGA	TCGA-G7-6795-01A-11D-1961-08	19379650	207006722	36192651	18	35256											
TNS1	7145	hgsc.bcm.edu	37	2	218713795	218713795	+	Missense_Mutation	SNP	G	G	A	rs200862766		TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:218713795G>A	ENST00000171887.4	-	17	1522	c.1070C>T	c.(1069-1071)aCg>aTg	p.T357M	TNS1_ENST00000419504.1_Missense_Mutation_p.T357M|TNS1_ENST00000430930.1_Missense_Mutation_p.T357M|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	357					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCCCCTGCGTGTGTCCCAC	0.577																																																0								G	MET/THR	0,4406		0,0,2203	89	89	89		1070	4.3	1	2		89	2,8598	2.2+/-6.3	0,2,4298	no	missense	TNS1	NM_022648.4	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	357/1736	218713795	2,13004	2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1070C>T	chr2.hg19:g.218713795G>A	ENSP00000171887:p.Thr357Met		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	hg19	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464168	0.63513	0.0	2.33E-4	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554	D;D;D;D;D	0.96334	-3.5;-3.49;-3.51;-3.83;-3.98	5.22	4.34	0.51931	.	0.767219	0.12422	N	0.470300	D	0.95255	0.8461	M	0.83603	2.65	0.80722	D	1	P;B;B;P;P	0.43519	0.809;0.423;0.345;0.704;0.704	B;B;B;B;B	0.32090	0.14;0.053;0.05;0.09;0.09	D	0.94356	0.7583	10	0.66056	D	0.02	.	14.202	0.65710	0.0727:0.0:0.9273:0.0	.	357;411;357;357;357	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	M	357;357;357;482;425	ENSP00000171887:T357M;ENSP00000408724:T357M;ENSP00000406016:T357M;ENSP00000405460:T482M;ENSP00000400383:T425M	ENSP00000171887:T357M	T	-	2	0	TNS1	218422040	1.000000	0.71417	0.991000	0.47740	0.969000	0.65631	7.726000	0.84824	1.404000	0.46819	0.655000	0.94253	ACG		0.577	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		A	218713795	G	A	218713795	3	1	649	1	0	0	0	0	1	0	0	0	16348	1145	40	1	4205	1	TNS1	2	218713795	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08	11707073	218713795	24485578	19	35257											
UGT1A5	54579	hgsc.bcm.edu	37	2	234622277	234622277	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:234622277A>G	ENST00000373414.3	+	1	640	c.640A>G	c.(640-642)Atg>Gtg	p.M214V	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.M214V|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	214						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GGTCAAGAACATGCTCTACCC	0.483																																																0													209	197	201					2																	234622277		2203	4300	6503	SO:0001583	missense	54579			M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.640A>G	chr2.hg19:g.234622277A>G	ENSP00000362513:p.Met214Val		B8K294	Missense_Mutation	SNP	ENST00000373414.3	hg19	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	A	9.408	1.079672	0.20309	.	.	ENSG00000240224	ENST00000373414	T	0.61040	0.14	4.77	-0.524	0.11920	.	0.585446	0.20090	N	0.099480	T	0.34221	0.0890	N	0.25201	0.72	0.26978	N	0.965428	B;B	0.13594	0.008;0.008	B;B	0.23150	0.044;0.044	T	0.12604	-1.0541	10	0.45353	T	0.12	.	1.3681	0.02205	0.4274:0.2431:0.2117:0.1179	.	214;214	Q5DSZ9;P35504	.;UD15_HUMAN	V	214	ENSP00000362513:M214V	ENSP00000362513:M214V	M	+	1	0	UGT1A5	234287016	0.000000	0.05858	0.992000	0.48379	0.655000	0.38815	-0.882000	0.04174	-0.055000	0.13244	0.459000	0.35465	ATG		0.483	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		G	234622277	A	G	234622277	3	3	649	1	0	0	0	0	1	0	0	0	16953	217	8	3	642	3	UGT1A5	2	234622277	Missense_Mutation	SNP	A	TCGA-G7-6795-01A-11D-1961-08	15908482	234622277	8577096	20	35258											
D2HGDH	728294	hgsc.bcm.edu	37	2	242695394	242695394	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr2:242695394C>A	ENST00000321264.4	+	9	1480	c.1271C>A	c.(1270-1272)cCg>cAg	p.P424Q	AC114730.7_ENST00000417267.1_RNA|D2HGDH_ENST00000403782.1_Missense_Mutation_p.P290Q|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	424					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CGCCTCGGCCCGCACGCCAAG	0.706																																																0													66	56	59					2																	242695394		2203	4296	6499	SO:0001583	missense	728294			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1271C>A	chr2.hg19:g.242695394C>A	ENSP00000315351:p.Pro424Gln		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	hg19	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.370|7.370	0.626555|0.626555	0.14257|0.14257	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000321264;ENST00000403782;ENST00000542211|ENST00000445308	D;D|.	0.83075|.	-1.68;-1.68|.	5.31|5.31	2.19|2.19	0.27852|0.27852	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	0.575624|.	0.18171|.	N|.	0.149454|.	T|T	0.18045|0.18045	0.0433|0.0433	N|N	0.13098|0.13098	0.295|0.295	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.19666|.	0.026|.	T|T	0.20273|0.20273	-1.0280|-1.0280	10|5	0.22706|.	T|.	0.39|.	-15.5113|-15.5113	3.1273|3.1273	0.06412|0.06412	0.1851:0.541:0.1039:0.17|0.1851:0.541:0.1039:0.17	.|.	424|.	Q8N465|.	D2HDH_HUMAN|.	Q|S	424;290;44|223	ENSP00000315351:P424Q;ENSP00000384723:P290Q|.	ENSP00000315351:P424Q|.	P|R	+|+	2|1	0|0	D2HGDH|D2HGDH	242344067|242344067	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.021000|0.021000	0.10359|0.10359	-0.148000|-0.148000	0.10219|0.10219	0.618000|0.618000	0.30179|0.30179	0.467000|0.467000	0.42956|0.42956	CCG|CGC		0.706	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		A	242695394	C	A	242695394	3	1	649	1	0	0	0	0	1	0	0	0	4215	652	23	4	1301	4	D2HGDH	2	242695394	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	8073117	242695394	503979	21	35259											
SYNPR	132204	hgsc.bcm.edu	37	3	63466530	63466530	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr3:63466530C>T	ENST00000295894.5	+	2	416	c.47C>T	c.(46-48)gCa>gTa	p.A16V	SYNPR_ENST00000465156.1_Missense_Mutation_p.A16V|SYNPR_ENST00000460711.1_Missense_Mutation_p.A27V|SYNPR_ENST00000479198.1_Missense_Mutation_p.A16V|SYNPR_ENST00000478300.1_Missense_Mutation_p.A36V|SYNPR_ENST00000478744.1_3'UTR|SYNPR-AS1_ENST00000488201.1_RNA	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	16	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TTTGCATTTGCAACATGCGGT	0.433																																					NSCLC(29;1052 1116 20025 32519)											0													160	161	160					3																	63466530		1945	4146	6091	SO:0001583	missense	132204			AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.47C>T	chr3.hg19:g.63466530C>T	ENSP00000295894:p.Ala16Val		B2R675|G5E9W4	Missense_Mutation	SNP	ENST00000295894.5	hg19	CCDS46860.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408930	0.83340	.	.	ENSG00000163630	ENST00000478300;ENST00000295894;ENST00000479198;ENST00000460711;ENST00000465156	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.38	5.38	0.77491	Marvel (1);MARVEL-like domain (1);	0.105267	0.64402	D	0.000004	D	0.87597	0.6217	M	0.90870	3.155	0.80722	D	1	D;D;D	0.60160	0.979;0.979;0.987	P;P;P	0.58013	0.831;0.831;0.74	D	0.90454	0.4441	10	0.87932	D	0	-3.3962	18.124	0.89580	0.0:1.0:0.0:0.0	.	27;16;36	B3KVD8;Q8TBG9;G5E9W4	.;SYNPR_HUMAN;.	V	36;16;16;27;16	ENSP00000418994:A36V;ENSP00000295894:A16V;ENSP00000418929:A16V;ENSP00000418701:A27V;ENSP00000418123:A16V	ENSP00000295894:A16V	A	+	2	0	SYNPR	63441570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.523000	0.85059	0.650000	0.86243	GCA		0.433	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1			T	63466530	C	T	63466530	3	4	649	1	0	0	0	0	1	0	0	0	15464	710	25	2	145	2	SYNPR	3	63466530	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08		63466530	134555900	22	35260											
TOPBP1	11073	hgsc.bcm.edu	37	3	133329894	133329895	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr3:133329894_133329895insCT	ENST00000260810.5	-	25	4257_4258	c.4126_4127insAG	c.(4126-4128)agafs	p.R1376fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1376					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTTCTCCATCTCATTGCTGCA	0.356								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)											0																																										SO:0001589	frameshift_variant	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4126_4127insAG	chr3.hg19:g.133329894_133329895insCT	ENSP00000260810:p.Arg1376fs		B7Z7W8|Q7LGC1|Q9UEB9	Frame_Shift_Ins	INS	ENST00000260810.5	hg19	CCDS46919.1																																																																																				0.356	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		CT	133329895	-	CT	133329894	7	5	649	1	0	1	1	0	0	0	0	0	16374	913	32	0	457	0	TOPBP1	3	133329894	Frame_Shift_Ins	INS	-	TCGA-G7-6795-01A-11D-1961-08	69863364	133329894	64692536	23	35261											
P2RY1	5028	hgsc.bcm.edu	37	3	152553966	152553966	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr3:152553966A>G	ENST00000305097.3	+	1	1231	c.395A>G	c.(394-396)cAt>cGt	p.H132R		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	132					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TTCATCTTTCATGTGAACCTC	0.507																																																0													79	76	77					3																	152553966		2203	4300	6503	SO:0001583	missense	5028			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.395A>G	chr3.hg19:g.152553966A>G	ENSP00000304767:p.His132Arg			Missense_Mutation	SNP	ENST00000305097.3	hg19	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019475	0.75275	.	.	ENSG00000169860	ENST00000305097	T	0.71698	-0.59	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	M	0.79475	2.455	0.80722	D	1	D	0.58268	0.982	D	0.62955	0.909	D	0.85045	0.0925	10	0.66056	D	0.02	.	15.2728	0.73717	1.0:0.0:0.0:0.0	.	132	P47900	P2RY1_HUMAN	R	132	ENSP00000304767:H132R	ENSP00000304767:H132R	H	+	2	0	P2RY1	154036656	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	9.210000	0.95106	2.186000	0.69663	0.533000	0.62120	CAT		0.507	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		G	152553966	A	G	152553966	3	3	649	1	0	0	0	0	1	0	0	0	11348	217	8	3	397	3	P2RY1	3	152553966	Missense_Mutation	SNP	A	TCGA-G7-6795-01A-11D-1961-08	19224072	152553966	45468464	24	35262											
SH3TC1	54436	hgsc.bcm.edu	37	4	8230107	8230107	+	Silent	SNP	C	C	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr4:8230107C>T	ENST00000245105.3	+	12	2753	c.2686C>T	c.(2686-2688)Ctg>Ttg	p.L896L	SH3TC1_ENST00000539824.1_Silent_p.L820L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	896										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCTCGGGACCTGGGCCAGCA	0.692																																					NSCLC(145;2298 2623 35616 37297)											0													37	43	41					4																	8230107		2203	4299	6502	SO:0001819	synonymous_variant	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2686C>T	chr4.hg19:g.8230107C>T			Q4W5G5	Silent	SNP	ENST00000245105.3	hg19	CCDS3399.1																																																																																				0.692	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		T	8230107	C	T	8230107	2	4	649	1	0	0	0	0	0	0	0	1	14267	680	24	2		2	SH3TC1	4	8230107	Silent	SNP	C	TCGA-G7-6795-01A-11D-1961-08		8230107	182924169	25	35263											
ACOX3	8310	hgsc.bcm.edu	37	4	8368755	8368755	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr4:8368755C>A	ENST00000356406.5	-	18	2113	c.2036G>T	c.(2035-2037)cGg>cTg	p.R679L	ACOX3_ENST00000503233.1_Missense_Mutation_p.R679L|ACOX3_ENST00000413009.2_3'UTR|ACOX3_ENST00000515797.1_5'UTR	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	679					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CCAGGATGCCCGCTCCAACAC	0.483																																																0													105	97	99					4																	8368755		2203	4300	6503	SO:0001583	missense	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.2036G>T	chr4.hg19:g.8368755C>A	ENSP00000348775:p.Arg679Leu		Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	hg19	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543529	0.86022	.	.	ENSG00000087008	ENST00000356406;ENST00000503233	T;T	0.49720	0.77;0.77	5.16	5.16	0.70880	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.74801	0.3764	M	0.91972	3.26	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.79313	-0.1855	10	0.46703	T	0.11	-25.9722	16.1529	0.81634	0.0:1.0:0.0:0.0	.	679	O15254	ACOX3_HUMAN	L	679	ENSP00000348775:R679L;ENSP00000421625:R679L	ENSP00000348775:R679L	R	-	2	0	ACOX3	8419655	0.997000	0.39634	0.064000	0.19789	0.008000	0.06430	5.682000	0.68182	2.411000	0.81874	0.655000	0.94253	CGG		0.483	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			A	8368755	C	A	8368755	3	1	649	1	0	0	0	0	1	0	0	0	160	652	23	4	70	4	ACOX3	4	8368755	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	138648	8368755	182785521	26	35264											
LAP3	51056	hgsc.bcm.edu	37	4	17586652	17586653	+	Missense_Mutation	DNP	AC	AC	GA			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr4:17586652_17586653AC>GA	ENST00000226299.4	+	6	871_872	c.597_598AC>GA	c.(595-600)gcACgc>gcGAgc	p.R200S	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.R169S	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	200					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						AGAACTTGGCACGCCAATTGAT	0.475																																																0																																										SO:0001583	missense	51056			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	Exception_encountered	chr4.hg19:g.17586652_17586653delinsGA	ENSP00000226299:p.Arg200Ser		B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent|Missense_Mutation	SNP	ENST00000226299.4	hg19	CCDS3422.1																																																																																				0.475	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			GA	17586653	AC	GA	17586652	3	3	649	1	0	0	0	0	1	0	0	0	8625	146	6	3	619	3	LAP3	4	17586652	Missense_Mutation	DNP	AC	TCGA-G7-6795-01A-11D-1961-08	9217897	17586652	173567624	27	35265											
CCDC110	256309	hgsc.bcm.edu	37	4	186382305	186382305	+	Silent	SNP	C	C	A	rs141194686	byFrequency	TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr4:186382305C>A	ENST00000307588.3	-	5	321	c.246G>T	c.(244-246)tcG>tcT	p.S82S	CCDC110_ENST00000393540.3_Intron|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000510617.1_Silent_p.S82S	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	82						nucleus (GO:0005634)		p.S82S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CACTGATTTCCGACTGTACCT	0.289																																																1	Substitution - coding silent(1)	large_intestine(1)											90	89	89					4																	186382305		2203	4296	6499	SO:0001819	synonymous_variant	256309			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.246G>T	chr4.hg19:g.186382305C>A			Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	hg19	CCDS3843.1																																																																																				0.289	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		A	186382305	C	A	186382305	2	1	649	1	0	0	0	0	0	0	0	1	2749	639	23	4		4	CCDC110	4	186382305	Silent	SNP	C	TCGA-G7-6795-01A-11D-1961-08	168795653	186382305	4771971	28	35266											
WDR70	55100	hgsc.bcm.edu	37	5	37381726	37381726	+	Silent	SNP	C	C	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr5:37381726C>T	ENST00000265107.4	+	3	270	c.114C>T	c.(112-114)gaC>gaT	p.D38D	WDR70_ENST00000504564.1_Silent_p.D38D	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	38							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCACATTTGACTTGGAAGCAA	0.378																																																0													119	127	124					5																	37381726		2203	4300	6503	SO:0001819	synonymous_variant	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.114C>T	chr5.hg19:g.37381726C>T			Q9H053	Silent	SNP	ENST00000265107.4	hg19	CCDS34147.1																																																																																				0.378	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		T	37381726	C	T	37381726	2	4	649	1	0	0	0	0	0	0	0	1	17326	564	20	2		2	WDR70	5	37381726	Silent	SNP	C	TCGA-G7-6795-01A-11D-1961-08		37381726	143533534	29	35267											
SLCO4C1	353189	hgsc.bcm.edu	37	5	101599479	101599479	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr5:101599479C>A	ENST00000310954.6	-	4	1094	c.808G>T	c.(808-810)Ggt>Tgt	p.G270C		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATAGCATAACCGGTTCCTAGA	0.378																																																0													129	121	123					5																	101599479		2203	4300	6503	SO:0001583	missense	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.808G>T	chr5.hg19:g.101599479C>A	ENSP00000309741:p.Gly270Cys			Missense_Mutation	SNP	ENST00000310954.6	hg19	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607691	0.46527	.	.	ENSG00000173930	ENST00000310954	T	0.80824	-1.42	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.085636	0.49916	D	0.000129	D	0.85283	0.5661	M	0.66506	2.035	0.38375	D	0.944971	P	0.34546	0.456	P	0.45946	0.498	D	0.85158	0.0990	10	0.39692	T	0.17	.	19.1822	0.93628	0.0:1.0:0.0:0.0	.	270	Q6ZQN7	SO4C1_HUMAN	C	270	ENSP00000309741:G270C	ENSP00000309741:G270C	G	-	1	0	SLCO4C1	101627378	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	5.387000	0.66243	2.598000	0.87819	0.650000	0.86243	GGT		0.378	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		A	101599479	C	A	101599479	3	1	649	1	0	0	0	0	1	0	0	0	14736	652	23	4	1406	4	SLCO4C1	5	101599479	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	64217753	101599479	79315781	30	35268											
PSD2	84249	hgsc.bcm.edu	37	5	139216448	139216448	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr5:139216448G>T	ENST00000274710.3	+	10	1661	c.1456G>T	c.(1456-1458)Ggg>Tgg	p.G486W		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	486					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAAGTTCGGGACAGGCAC	0.602																																																0													164	148	154					5																	139216448		2203	4300	6503	SO:0001583	missense	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1456G>T	chr5.hg19:g.139216448G>T	ENSP00000274710:p.Gly486Trp		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	hg19	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470024	0.84533	.	.	ENSG00000146005	ENST00000274710	T	0.13307	2.6	5.37	5.37	0.77165	.	0.053535	0.85682	D	0.000000	T	0.30262	0.0759	L	0.53249	1.67	0.58432	D	0.999998	D	0.67145	0.996	P	0.59288	0.855	T	0.01030	-1.1475	10	0.87932	D	0	.	17.2612	0.87070	0.0:0.0:1.0:0.0	.	486	Q9BQI7	PSD2_HUMAN	W	486	ENSP00000274710:G486W	ENSP00000274710:G486W	G	+	1	0	PSD2	139196632	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.214000	0.77958	2.524000	0.85096	0.555000	0.69702	GGG		0.602	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		T	139216448	G	T	139216448	3	4	649	1	0	0	0	0	1	0	0	0	12652	1116	39	4	1490	4	PSD2	5	139216448	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08	37616969	139216448	41698812	31	35269											
APBB3	10307	hgsc.bcm.edu	37	5	139938231	139938231	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr5:139938231C>A	ENST00000357560.4	-	13	1843	c.1400G>T	c.(1399-1401)cGg>cTg	p.R467L	SRA1_ENST00000336283.6_5'Flank|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.R472L|APBB3_ENST00000508496.2_Missense_Mutation_p.R244L|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000354402.5_Missense_Mutation_p.R474L|APBB3_ENST00000412920.3_Missense_Mutation_p.R465L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	467						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGACACCCCGCTTTCGAGG	0.607																																																0													76	84	81					5																	139938231		2203	4300	6503	SO:0001583	missense	10307			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1400G>T	chr5.hg19:g.139938231C>A	ENSP00000350171:p.Arg467Leu		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	hg19	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308074	0.81247	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.51574	1.74;1.73;1.74;0.7;1.74	5.03	5.03	0.67393	.	0.151653	0.37906	N	0.001888	T	0.55065	0.1897	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.83275	0.878;0.996	T	0.52132	-0.8616	9	.	.	.	-17.5903	15.2742	0.73728	0.0:1.0:0.0:0.0	.	465;472	O95704-2;O95704-3	.;.	L	472;474;467;244;465	ENSP00000349177:R472L;ENSP00000346378:R474L;ENSP00000350171:R467L;ENSP00000444013:R244L;ENSP00000402591:R465L	.	R	-	2	0	APBB3	139918415	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.647000	0.54403	2.350000	0.79820	0.455000	0.32223	CGG		0.607	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		A	139938231	C	A	139938231	3	1	649	1	0	0	0	0	1	0	0	0	762	652	23	4	64	4	APBB3	5	139938231	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	721783	139938231	40977029	32	35270											
MDGA1	266727	hgsc.bcm.edu	37	6	37622577	37622577	+	Splice_Site	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr6:37622577C>A	ENST00000434837.3	-	5	1889	c.711G>T	c.(709-711)acG>acT	p.T237T	MDGA1_ENST00000505425.1_Splice_Site_p.T237T|MDGA1_ENST00000297153.7_Splice_Site_p.T237T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	237					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.T237T(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGCCTGTACCCGTGGTGTTGG	0.602																																																1	Substitution - coding silent(1)	lung(1)											214	225	222					6																	37622577		2169	4258	6427	SO:0001630	splice_region_variant	266727			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.712+1G>T	chr6.hg19:g.37622577C>A			A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	hg19	CCDS47417.1																																																																																				0.602	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		Silent	A	37622577	C	A	37622577	5	1	649	1	0	0	0	0	0	0	1	0	9408	666	23	4	2208	4	MDGA1	6	37622577	Splice_Site	SNP	C	TCGA-G7-6795-01A-11D-1961-08		37622577	133492490	33	35271											
TULP4	56995	hgsc.bcm.edu	37	6	158873218	158873218	+	Silent	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr6:158873218C>A	ENST00000367097.3	+	5	2134	c.777C>A	c.(775-777)acC>acA	p.T259T	TULP4_ENST00000367094.2_Silent_p.T259T	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	259					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T259T(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTCTGCTCACCGTCAGCTTCA	0.537																																																1	Substitution - coding silent(1)	lung(1)											185	148	161					6																	158873218		2203	4300	6503	SO:0001819	synonymous_variant	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.777C>A	chr6.hg19:g.158873218C>A			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	hg19	CCDS34561.1																																																																																				0.537	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		A	158873218	C	A	158873218	2	1	649	1	0	0	0	0	0	0	0	1	16781	639	23	4		4	TULP4	6	158873218	Silent	SNP	C	TCGA-G7-6795-01A-11D-1961-08	121250641	158873218	12241849	34	35272											
SLC13A1	6561	hgsc.bcm.edu	37	7	122765636	122765636	+	Silent	SNP	A	A	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr7:122765636A>G	ENST00000194130.2	-	11	1266	c.1227T>C	c.(1225-1227)ccT>ccC	p.P409P	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	409					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTTCTCCTGTAGGTGTAGTTT	0.368																																																0													123	129	127					7																	122765636		2203	4300	6503	SO:0001819	synonymous_variant	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1227T>C	chr7.hg19:g.122765636A>G			Q9H5Z0	Silent	SNP	ENST00000194130.2	hg19	CCDS5786.1																																																																																				0.368	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		G	122765636	A	G	122765636	2	3	649	1	0	0	0	0	0	0	0	1	14397	407	15	3		3	SLC13A1	7	122765636	Silent	SNP	A	TCGA-G7-6795-01A-11D-1961-08		122765636	36373027	35	35273											
AKR1B15	441282	hgsc.bcm.edu	37	7	134260255	134260255	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr7:134260255G>T	ENST00000457545.2	+	7	857	c.597G>T	c.(595-597)ttG>ttT	p.L199F	AKR1B15_ENST00000423958.1_Missense_Mutation_p.L171F	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	199							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGAGGCTCTTGAACAAACCTG	0.463																																																0													71	77	75					7																	134260255		2203	4300	6503	SO:0001583	missense	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.597G>T	chr7.hg19:g.134260255G>T	ENSP00000389289:p.Leu199Phe		C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	hg19	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484711	0.44147	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.21031	2.03;2.03	3.82	0.986	0.19784	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.42832	0.1220	M	0.80508	2.5	0.47308	D	0.999386	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.23619	-1.0183	9	0.87932	D	0	.	7.683	0.28524	0.2865:0.0:0.7135:0.0	.	171;199	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	F	199;171	ENSP00000389289:L199F;ENSP00000397009:L171F	ENSP00000397009:L171F	L	+	3	2	AKR1B15	133910795	0.998000	0.40836	0.832000	0.32986	0.573000	0.36030	0.344000	0.19962	-0.004000	0.14419	0.543000	0.68304	TTG		0.463	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			T	134260255	G	T	134260255	3	4	649	1	0	0	0	0	1	0	0	0	468	1281	45	4	615	4	AKR1B15	7	134260255	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08	11494619	134260255	24878408	36	35274											
BMP1	649	hgsc.bcm.edu	37	8	22058658	22058658	+	Intron	SNP	G	G	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr8:22058658G>T	ENST00000306385.5	+	16	2777				BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306349.8_Missense_Mutation_p.R712L	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.R712L(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAGCCCCCTCGGGGACGCCCC	0.627																																																1	Substitution - Missense(1)	lung(1)											67	81	76					8																	22058658		2203	4300	6503	SO:0001627	intron_variant	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2108-658G>T	chr8.hg19:g.22058658G>T			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	hg19	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557340	0.65425	.	.	ENSG00000168487	ENST00000306349	T	0.61627	0.09	4.16	4.16	0.48862	.	.	.	.	.	T	0.38321	0.1036	N	0.08118	0	0.80722	D	1	P;P	0.37612	0.602;0.458	B;B	0.37780	0.258;0.192	T	0.46331	-0.9199	9	0.62326	D	0.03	.	11.9617	0.53011	0.0:0.0:1.0:0.0	.	785;712	Q59F71;P13497-2	.;.	L	712	ENSP00000306121:R712L	ENSP00000306121:R712L	R	+	2	0	BMP1	22114603	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	3.757000	0.55212	1.854000	0.53819	0.407000	0.27541	CGG		0.627	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		T	22058658	G	T	22058658	1	4	649	0	1	0	0	0	0	0	0	0	1456	1116	39	4		4	BMP1	8	22058658	Intron	SNP	G	TCGA-G7-6795-01A-11D-1961-08		22058658	124305364	37	35275											
TPD52	7163	hgsc.bcm.edu	37	8	80963849	80963851	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	GAT	GAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr8:80963849_80963851delGAT	ENST00000379097.3	-	4	779_781	c.417_419delATC	c.(415-420)acatct>act	p.S140del	TPD52_ENST00000379096.5_In_Frame_Del_p.S100del|TPD52_ENST00000520527.1_In_Frame_Del_p.S140del|TPD52_ENST00000517427.1_In_Frame_Del_p.S140del|TPD52_ENST00000537855.1_In_Frame_Del_p.S140del|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000518937.1_In_Frame_Del_p.S100del|TPD52_ENST00000523395.1_5'Flank|TPD52_ENST00000448733.2_In_Frame_Del_p.S140del	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	140					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TAAGGTTTCAGATGTCTTCTTGT	0.404																																																0																																										SO:0001651	inframe_deletion	7163			U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.417_419delATC	chr8.hg19:g.80963849_80963851delGAT	ENSP00000368391:p.Ser140del		B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	In_Frame_Del	DEL	ENST00000379097.3	hg19	CCDS34912.1																																																																																				0.404	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		-	80963851	GAT	-	80963849	7	5	649	1	0	1	0	1	0	0	0	0	16402	942	33	0	344	0	TPD52	8	80963849	In_Frame_Del	DEL	GAT	TCGA-G7-6795-01A-11D-1961-08	58905191	80963849	65400173	38	35276											
OXR1	55074	hgsc.bcm.edu	37	8	107718929	107718929	+	Silent	SNP	T	T	C			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr8:107718929T>C	ENST00000442977.2	+	8	1282	c.1183T>C	c.(1183-1185)Tta>Cta	p.L395L	OXR1_ENST00000312046.6_Silent_p.L387L|OXR1_ENST00000445937.1_Silent_p.L394L|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Silent_p.L394L|OXR1_ENST00000517566.2_Silent_p.L394L|OXR1_ENST00000497705.1_Silent_p.L327L	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	395					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TCCTGGTCACTTAAGATCTGA	0.368																																																0													86	89	88					8																	107718929		2203	4300	6503	SO:0001819	synonymous_variant	55074			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1183T>C	chr8.hg19:g.107718929T>C			A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	hg19	CCDS56548.1																																																																																				0.368	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		C	107718929	T	C	107718929	2	2	649	1	0	0	0	0	0	0	0	1	11336	1606	56	3		3	OXR1	8	107718929	Silent	SNP	T	TCGA-G7-6795-01A-11D-1961-08	26755080	107718929	38645093	39	35277											
COL22A1	169044	hgsc.bcm.edu	37	8	139737673	139737673	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr8:139737673C>T	ENST00000303045.6	-	24	2596	c.2150G>A	c.(2149-2151)gGa>gAa	p.G717E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G717E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	717	Collagen-like 5.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCAGGGGGTCCTGGAGGGCC	0.582										HNSCC(7;0.00092)																																						0													50	57	55					8																	139737673		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2150G>A	chr8.hg19:g.139737673C>T	ENSP00000303153:p.Gly717Glu		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	hg19	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043885	0.55110	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99353	-5.77;-5.14	4.8	4.8	0.61643	.	0.000000	0.49305	D	0.000157	D	0.99722	0.9892	H	0.99719	4.725	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96966	0.9705	10	0.87932	D	0	.	14.0818	0.64929	0.0:1.0:0.0:0.0	.	717;717	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	E	717;717;430	ENSP00000303153:G717E;ENSP00000387655:G717E	ENSP00000303153:G717E	G	-	2	0	COL22A1	139806855	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.436000	0.52856	2.567000	0.86603	0.655000	0.94253	GGA		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		T	139737673	C	T	139737673	3	4	649	1	0	0	0	0	1	0	0	0	3683	855	30	2	2898	2	COL22A1	8	139737673	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	32018744	139737673	6626349	40	35278											
KIAA0020	9933	hgsc.bcm.edu	37	9	2811557	2811557	+	Missense_Mutation	SNP	C	C	A	rs2270889	byFrequency	TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr9:2811557C>A	ENST00000397885.2	-	15	1645	c.1439G>T	c.(1438-1440)cGg>cTg	p.R480L		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	480	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.		R -> Q (in dbSNP:rs2270889).			endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TAGGAGCTCCCGTCTGCGGAC	0.438																																																0													99	97	98					9																	2811557		2203	4300	6503	SO:0001583	missense	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1439G>T	chr9.hg19:g.2811557C>A	ENSP00000380982:p.Arg480Leu		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	hg19	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523165	0.64747	.	.	ENSG00000080608	ENST00000397885	T	0.45668	0.89	5.97	4.9	0.64082	CPL (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.246724	0.42420	D	0.000701	T	0.37404	0.1002	L	0.48642	1.525	0.09310	N	1	B;P	0.38582	0.322;0.638	B;B	0.40741	0.258;0.339	T	0.29518	-1.0009	10	0.36615	T	0.2	-23.6222	10.0978	0.42486	0.0:0.8152:0.0:0.1848	.	340;480	B2RDG4;Q15397	.;K0020_HUMAN	L	480	ENSP00000380982:R480L	ENSP00000380982:R480L	R	-	2	0	KIAA0020	2801557	0.006000	0.16342	0.339000	0.25562	0.986000	0.74619	0.406000	0.21032	2.836000	0.97738	0.655000	0.94253	CGG		0.438	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		A	2811557	C	A	2811557	3	1	649	1	0	0	0	0	1	0	0	0	8154	652	23	4	523	4	KIAA0020	9	2811557	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08		2811557	138401874	41	35279											
ADD3	120	hgsc.bcm.edu	37	10	111860443	111860443	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr10:111860443C>G	ENST00000356080.4	+	2	399	c.32C>G	c.(31-33)aCc>aGc	p.T11S	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.T11S|ADD3_ENST00000277900.8_Missense_Mutation_p.T11S	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	11						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GGCGTGATTACCACTCCTCCT	0.418																																																0													84	70	74					10																	111860443		2203	4300	6503	SO:0001583	missense	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.32C>G	chr10.hg19:g.111860443C>G	ENSP00000348381:p.Thr11Ser		D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	hg19	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165457	0.78339	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.30714	1.52;1.52;1.52	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.76838	2.35	0.80722	D	1	P;B	0.51653	0.947;0.383	P;B	0.48400	0.576;0.155	T	0.32107	-0.9919	10	0.30078	T	0.28	-16.68	20.6397	0.99537	0.0:1.0:0.0:0.0	.	11;11	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	S	11	ENSP00000353286:T11S;ENSP00000348381:T11S;ENSP00000277900:T11S	ENSP00000277900:T11S	T	+	2	0	ADD3	111850433	1.000000	0.71417	0.988000	0.46212	0.954000	0.61252	7.481000	0.81124	2.880000	0.98712	0.650000	0.86243	ACC		0.418	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		G	111860443	C	G	111860443	3	3	649	1	0	0	0	0	1	0	0	0	306	507	18	4	34	4	ADD3	10	111860443	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08		111860443	23674304	42	35280											
MRVI1	10335	hgsc.bcm.edu	37	11	10647666	10647666	+	Silent	SNP	C	C	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr11:10647666C>G	ENST00000436272.1	-	8	1212	c.1134G>C	c.(1132-1134)cgG>cgC	p.R378R	MRVI1_ENST00000547195.1_Silent_p.R314R|MRVI1_ENST00000534266.2_Silent_p.R90R|MRVI1_ENST00000424001.1_Silent_p.R90R|MRVI1_ENST00000423302.2_Silent_p.R405R|MRVI1_ENST00000527509.2_Silent_p.R314R|MRVI1_ENST00000531107.1_Silent_p.R397R|MRVI1_ENST00000558540.1_Silent_p.R90R|MRVI1_ENST00000552103.1_Silent_p.R314R|MRVI1_ENST00000545852.1_Silent_p.R90R|MRVI1_ENST00000421747.1_Silent_p.R396R|MRVI1_ENST00000541483.1_Intron			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	378					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTTTCTGCAGCCGGGGGCCAG	0.647																																																0													16	18	18					11																	10647666		1874	4079	5953	SO:0001819	synonymous_variant	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1134G>C	chr11.hg19:g.10647666C>G			B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	hg19																																																																																					0.647	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		G	10647666	C	G	10647666	2	3	649	1	0	0	0	0	0	0	0	1	9855	726	26	4		4	MRVI1	11	10647666	Silent	SNP	C	TCGA-G7-6795-01A-11D-1961-08		10647666	124358850	43	35281											
HPS5	11234	hgsc.bcm.edu	37	11	18309441	18309441	+	Splice_Site	SNP	G	G	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr11:18309441G>A	ENST00000349215.3	-	17	2837	c.2560C>T	c.(2560-2562)Cgg>Tgg	p.R854W	HPS5_ENST00000537258.1_5'Flank|HPS5_ENST00000396253.3_Splice_Site_p.R740W|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Splice_Site_p.R740W	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	854					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACAACTTACCGGGTAGCATAA	0.363									Hermansky-Pudlak syndrome																																							0													140	122	129					11																	18309441		2199	4293	6492	SO:0001630	splice_region_variant	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2561+1C>T	chr11.hg19:g.18309441G>A			A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	hg19	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415187	0.42817	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000544218	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.36	-0.639	0.11497	.	0.091394	0.85682	D	0.000000	D	0.90017	0.6883	M	0.66939	2.045	0.48830	D	0.999711	D	0.76494	0.999	D	0.65443	0.935	D	0.88319	0.2961	10	0.87932	D	0	.	10.3165	0.43740	0.0768:0.0:0.2154:0.7078	.	854	Q9UPZ3	HPS5_HUMAN	W	740;740;854;40	ENSP00000379552:R740W;ENSP00000399590:R740W;ENSP00000265967:R854W;ENSP00000441781:R40W	ENSP00000265967:R854W	R	-	1	2	HPS5	18266017	0.959000	0.32827	0.725000	0.30721	0.174000	0.22865	1.548000	0.36201	-0.008000	0.14320	-0.475000	0.04921	CGG		0.363	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507	Missense_Mutation	A	18309441	G	A	18309441	5	1	649	1	0	0	0	0	0	0	1	0	7344	1130	39	1	857	1	HPS5	11	18309441	Splice_Site	SNP	G	TCGA-G7-6795-01A-11D-1961-08	7661775	18309441	116697075	44	35282											
OR5M8	219484	hgsc.bcm.edu	37	11	56258788	56258788	+	Missense_Mutation	SNP	C	C	A	rs574852072	byFrequency	TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr11:56258788C>A	ENST00000327216.2	-	1	83	c.59G>T	c.(58-60)cGg>cTg	p.R20L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20						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)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGTAATTCCCGGCGACTGGT	0.483																																																0													80	85	83					11																	56258788		2201	4296	6497	SO:0001583	missense	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.59G>T	chr11.hg19:g.56258788C>A	ENSP00000323354:p.Arg20Leu		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	hg19	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	9.468	1.094793	0.20471	.	.	ENSG00000181371	ENST00000327216	T	0.00421	7.46	4.13	-7.18	0.01505	.	1.292630	0.06259	N	0.693636	T	0.00178	0.0005	N	0.05280	-0.08	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39683	-0.9602	10	0.51188	T	0.08	0.1659	3.5083	0.07699	0.209:0.2522:0.4222:0.1166	.	20	Q8NGP6	OR5M8_HUMAN	L	20	ENSP00000323354:R20L	ENSP00000323354:R20L	R	-	2	0	OR5M8	56015364	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.691000	0.00198	-1.486000	0.01851	-1.292000	0.01352	CGG		0.483	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		A	56258788	C	A	56258788	3	1	649	1	0	0	0	0	1	0	0	0	11178	652	23	4	880	4	OR5M8	11	56258788	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	37949347	56258788	78747728	45	35283											
NPAT	4863	hgsc.bcm.edu	37	11	108032024	108032024	+	Silent	SNP	A	A	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr11:108032024A>G	ENST00000278612.8	-	17	3894	c.3789T>C	c.(3787-3789)agT>agC	p.S1263S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1263					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CAGGTAAATCACTACTATCAG	0.443																																																0													107	105	106					11																	108032024		1852	4092	5944	SO:0001819	synonymous_variant	4863			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3789T>C	chr11.hg19:g.108032024A>G			A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	hg19	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.813585	0.00600	.	.	ENSG00000149308	ENST00000527296	.	.	.	3.92	-3.71	0.04424	.	.	.	.	.	T	0.35970	0.0950	.	.	.	0.44275	D	0.997137	.	.	.	.	.	.	T	0.37197	-0.9716	4	.	.	.	-0.1192	0.4805	0.00547	0.1833:0.2475:0.2586:0.3106	.	.	.	.	A	262	.	.	V	-	2	0	NPAT	107537234	0.001000	0.12720	0.012000	0.15200	0.023000	0.10783	-0.273000	0.08548	-0.420000	0.07427	-0.256000	0.11100	GTG		0.443	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		G	108032024	A	G	108032024	2	3	649	1	0	0	0	0	0	0	0	1	10568	156	6	3		3	NPAT	11	108032024	Silent	SNP	A	TCGA-G7-6795-01A-11D-1961-08	51773236	108032024	26974492	46	35284											
IGSF9B	22997	hgsc.bcm.edu	37	11	133790126	133790126	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr11:133790126C>A	ENST00000321016.8	-	18	3724	c.3494G>T	c.(3493-3495)gGc>gTc	p.G1165V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1165V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1165	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGTGTCCAGGCCAAATGTGCT	0.692																																																0													30	34	33					11																	133790126		1905	4106	6011	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3494G>T	chr11.hg19:g.133790126C>A	ENSP00000317980:p.Gly1165Val		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	hg19		.	.	.	.	.	.	.	.	.	.	C	15.82	2.946783	0.53186	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65364	0.18;-0.15	5.08	5.08	0.68730	.	0.000000	0.45606	D	0.000349	T	0.50205	0.1602	N	0.19112	0.55	0.58432	D	0.999991	P	0.35774	0.519	B	0.34418	0.182	T	0.57225	-0.7848	10	0.62326	D	0.03	.	18.0591	0.89371	0.0:1.0:0.0:0.0	.	1165	Q9UPX0	TUTLB_HUMAN	V	1165;1007	ENSP00000317980:G1165V;ENSP00000436552:G1007V	ENSP00000317980:G1165V	G	-	2	0	IGSF9B	133295336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.261000	0.65496	2.358000	0.79984	0.455000	0.32223	GGC		0.692	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		A	133790126	C	A	133790126	3	1	649	1	0	0	0	0	1	0	0	0	7608	739	26	4	563	4	IGSF9B	11	133790126	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	25758102	133790126	1216390	47	35285											
IGSF9B	22997	hgsc.bcm.edu	37	11	133794760	133794760	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr11:133794760C>T	ENST00000321016.8	-	15	2304	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N	IGSF9B_ENST00000533871.2_Missense_Mutation_p.D692N			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	692	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGATCAGATCCTGCATGACG	0.587																																																0													114	123	120					11																	133794760		2090	4217	6307	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2074G>A	chr11.hg19:g.133794760C>T	ENSP00000317980:p.Asp692Asn		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	hg19		.	.	.	.	.	.	.	.	.	.	C	34	5.382681	0.95967	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.56941	0.43;0.43;0.43	5.02	5.02	0.67125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41500	D	0.000871	T	0.64505	0.2604	L	0.46157	1.445	0.53005	D	0.999967	P	0.42518	0.782	P	0.56278	0.795	T	0.62353	-0.6872	10	0.42905	T	0.14	.	18.7177	0.91682	0.0:1.0:0.0:0.0	.	692	Q9UPX0	TUTLB_HUMAN	N	692;534;692	ENSP00000317980:D692N;ENSP00000436552:D534N;ENSP00000436576:D692N	ENSP00000317980:D692N	D	-	1	0	IGSF9B	133299970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.637000	0.83313	2.493000	0.84123	0.655000	0.94253	GAT		0.587	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		T	133794760	C	T	133794760	3	4	649	1	0	0	0	0	1	0	0	0	7608	855	30	2	1995	2	IGSF9B	11	133794760	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	4634	133794760	1211756	48	35286											
NACA	4666	hgsc.bcm.edu	37	12	57114205	57114205	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr12:57114205G>A	ENST00000454682.1	-	3	1390	c.1109C>T	c.(1108-1110)aCt>aTt	p.T370I	NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.T370I|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	370	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGCAGCCACAGTAGCAGGAAC	0.488			T	BCL6	NHL																																		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													60	55	56					12																	57114205		1568	3582	5150	SO:0001583	missense	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1109C>T	chr12.hg19:g.57114205G>A	ENSP00000403817:p.Thr370Ile			Missense_Mutation	SNP	ENST00000454682.1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.65	2.598833	0.46318	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.47869	0.83;0.9	3.29	3.29	0.37713	.	.	.	.	.	T	0.23171	0.0560	N	0.08118	0	0.09310	N	1	P;B	0.38978	0.652;0.358	B;B	0.30943	0.122;0.117	T	0.03750	-1.1007	9	0.26408	T	0.33	.	10.4563	0.44553	0.0:0.0:1.0:0.0	.	370;370	E9PAV3;F8VU71	.;.	I	370	ENSP00000403817:T370I;ENSP00000448035:T370I	ENSP00000403817:T370I	T	-	2	0	NACA	55400472	0.001000	0.12720	0.018000	0.16275	0.537000	0.34900	0.083000	0.14871	1.569000	0.49696	0.306000	0.20318	ACT		0.488	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		A	57114205	G	A	57114205	3	1	649	1	0	0	0	0	1	0	0	0	10135	1029	36	2	5155	2	NACA	12	57114205	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08		57114205	76737690	49	35287											
MBD6	114785	hgsc.bcm.edu	37	12	57918527	57918527	+	Silent	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr12:57918527C>A	ENST00000355673.3	+	4	494	c.138C>A	c.(136-138)tcC>tcA	p.S46S	MBD6_ENST00000431731.2_Silent_p.S46S|MBD6_ENST00000549231.1_3'UTR	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	46	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCTGTCTTCCTTGGAGCAAA	0.572																																																0													83	76	78					12																	57918527		2203	4300	6503	SO:0001819	synonymous_variant	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.138C>A	chr12.hg19:g.57918527C>A			Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	hg19	CCDS8944.1																																																																																				0.572	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			A	57918527	C	A	57918527	2	1	649	1	0	0	0	0	0	0	0	1	9350	668	24	4		4	MBD6	12	57918527	Silent	SNP	C	TCGA-G7-6795-01A-11D-1961-08	804322	57918527	75933368	50	35288											
CCDC70	83446	hgsc.bcm.edu	37	13	52439890	52439890	+	Missense_Mutation	SNP	C	C	A	rs17076052	byFrequency	TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr13:52439890C>A	ENST00000242819.4	+	2	672	c.376C>A	c.(376-378)Cgc>Agc	p.R126S		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	126			R -> C (in dbSNP:rs17076052).			extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GAAAAAGTACCGCACTTTCTG	0.468																																																0													111	125	120					13																	52439890		2203	4300	6503	SO:0001583	missense	83446				CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.376C>A	chr13.hg19:g.52439890C>A	ENSP00000242819:p.Arg126Ser		Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	hg19	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	C	4.364	0.067073	0.08388	.	.	ENSG00000123171	ENST00000242819	T	0.21543	2.0	5.93	-0.542	0.11854	.	0.271361	0.25723	N	0.028737	T	0.18087	0.0434	M	0.65975	2.015	0.80722	P	0.0	P	0.35844	0.524	B	0.28465	0.09	T	0.16482	-1.0401	9	0.33940	T	0.23	-18.1723	11.3004	0.49302	0.6742:0.2599:0.0:0.0659	.	126	Q6NSX1	CCD70_HUMAN	S	126	ENSP00000242819:R126S	ENSP00000242819:R126S	R	+	1	0	CCDC70	51337891	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.113000	0.10774	-0.486000	0.06744	-2.156000	0.00330	CGC		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		A	52439890	C	A	52439890	3	1	649	1	0	0	0	0	1	0	0	0	2845	652	23	4	378	4	CCDC70	13	52439890	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08		52439890	62729988	51	35289											
UBR1	197131	hgsc.bcm.edu	37	15	43299382	43299382	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr15:43299382C>T	ENST00000290650.4	-	30	3388	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1104					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCTCCTGTTCTTCTTGGCAA	0.473																																																0													128	115	119					15																	43299382		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3310G>A	chr15.hg19:g.43299382C>T	ENSP00000290650:p.Glu1104Lys		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	hg19	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388214	0.95988	.	.	ENSG00000159459	ENST00000290650	T	0.55760	0.5	4.99	4.99	0.66335	Zinc finger, RING/FYVE/PHD-type (1);	0.050391	0.85682	D	0.000000	T	0.71829	0.3386	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71066	-0.4700	10	0.40728	T	0.16	-8.6741	18.4574	0.90725	0.0:1.0:0.0:0.0	.	1104	Q8IWV7	UBR1_HUMAN	K	1104	ENSP00000290650:E1104K	ENSP00000290650:E1104K	E	-	1	0	UBR1	41086674	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.320000	0.79064	2.593000	0.87608	0.655000	0.94253	GAA		0.473	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		T	43299382	C	T	43299382	3	4	649	1	0	0	0	0	1	0	0	0	16906	922	32	2	2011	2	UBR1	15	43299382	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08		43299382	59232010	52	35290											
PKD1	5310	hgsc.bcm.edu	37	16	2155892	2155892	+	Silent	SNP	A	A	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr16:2155892A>G	ENST00000262304.4	-	20	8045	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	PKD1_ENST00000423118.1_Silent_p.L2613L|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2613	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		Missing (in PKD1; unknown pathological significance). {ECO:0000269|PubMed:11571556}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L2613L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657																																																1	Substitution - coding silent(1)	lung(1)											46	45	45					16																	2155892		1400	2465	3865	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7837T>C	chr16.hg19:g.2155892A>G			Q15140|Q15141	Silent	SNP	ENST00000262304.4	hg19	CCDS32369.1																																																																																				0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			G	2155892	A	G	2155892	2	3	649	1	0	0	0	0	0	0	0	1	11965	40	2	3		3	PKD1	16	2155892	Silent	SNP	A	TCGA-G7-6795-01A-11D-1961-08		2155892	88198861	53	35291											
ZFHX3	463	hgsc.bcm.edu	37	16	72992635	72992635	+	Silent	SNP	T	T	C			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr16:72992635T>C	ENST00000268489.5	-	2	2082	c.1410A>G	c.(1408-1410)gaA>gaG	p.E470E	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	470	Poly-Glu.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cctccgcctcttcctcctcct	0.587																																																0													38	42	40					16																	72992635		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1410A>G	chr16.hg19:g.72992635T>C			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	hg19	CCDS10908.1																																																																																				0.587	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		C	72992635	T	C	72992635	2	2	649	1	0	0	0	0	0	0	0	1	17639	1606	56	3		3	ZFHX3	16	72992635	Silent	SNP	T	TCGA-G7-6795-01A-11D-1961-08	70836743	72992635	17362118	54	35292	261	2									
ZFHX3	463	hgsc.bcm.edu	37	16	72992638	72992638	+	Silent	SNP	C	C	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr16:72992638C>T	ENST00000268489.5	-	2	2079	c.1407G>A	c.(1405-1407)gaG>gaA	p.E469E	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	469	Poly-Glu.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ccgcctcttcctcctcctctt	0.587																																																0													38	41	40					16																	72992638		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1407G>A	chr16.hg19:g.72992638C>T			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	hg19	CCDS10908.1																																																																																				0.587	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		T	72992638	C	T	72992638	2	4	649	1	0	0	0	0	0	0	0	1	17639	680	24	2		2	ZFHX3	16	72992638	Silent	SNP	C	TCGA-G7-6795-01A-11D-1961-08	3	72992638	17362115	55	35293	261	2									
METT10D	79066	hgsc.bcm.edu	37	17	2323643	2323643	+	Missense_Mutation	SNP	C	C	A	rs201182820		TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr17:2323643C>A	ENST00000263092.6	-	10	1437	c.1310G>T	c.(1309-1311)cGg>cTg	p.R437L	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.R219L	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	437							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTCGCCTTCCCGCAGAGCAGG	0.647																																																0													54	61	59					17																	2323643		1828	4070	5898	SO:0001583	missense	79066			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"methyltransferase 10 domain containing"	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1310G>T	chr17.hg19:g.2323643C>A	ENSP00000263092:p.Arg437Leu		D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	hg19	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.357504	0.01245	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.42131	1.0;0.98	4.96	-9.91	0.00458	.	1.656050	0.03445	N	0.209819	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10800	-1.0614	10	0.20046	T	0.44	.	5.2765	0.15653	0.0792:0.3013:0.4229:0.1966	.	437	Q86W50	MET16_HUMAN	L	437;117;219	ENSP00000263092:R437L;ENSP00000443633:R219L	ENSP00000263092:R437L	R	-	2	0	METTL16	2270393	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-2.154000	0.01285	-3.074000	0.00252	0.511000	0.50034	CGG		0.647	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		A	2323643	C	A	2323643	3	1	649	1	0	0	0	0	1	0	0	0	9492	652	23	4	382	4	METT10D	17	2323643	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08		2323643	78871567	56	35294											
RAP1GAP2	23108	hgsc.bcm.edu	37	17	2898695	2898695	+	Silent	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr17:2898695C>A	ENST00000254695.8	+	13	1069	c.979C>A	c.(979-981)Cgg>Agg	p.R327R	RAP1GAP2_ENST00000542807.1_Silent_p.R327R|RAP1GAP2_ENST00000366401.4_Silent_p.R312R|RAP1GAP2_ENST00000540393.2_Silent_p.R308R	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	327	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CACAACATTCCGGGACAGGGA	0.562																																																0													128	134	132					17																	2898695		2192	4300	6492	SO:0001819	synonymous_variant	23108			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.979C>A	chr17.hg19:g.2898695C>A			B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	hg19	CCDS45573.1																																																																																				0.562	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			A	2898695	C	A	2898695	2	1	649	1	0	0	0	0	0	0	0	1	13044	643	23	4		4	RAP1GAP2	17	2898695	Silent	SNP	C	TCGA-G7-6795-01A-11D-1961-08	575052	2898695	78296515	57	35295											
MPRIP	23164	hgsc.bcm.edu	37	17	17030034	17030034	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr17:17030034G>A	ENST00000341712.4	+	4	286	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	MPRIP_ENST00000395804.3_Missense_Mutation_p.G96S|MPRIP_ENST00000395811.5_Missense_Mutation_p.G96S|MPRIP_ENST00000444976.1_Missense_Mutation_p.G96S			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	96	Interaction with F-actin. {ECO:0000250}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCTTCCTCAGGGCACCATCAA	0.602																																																0													80	73	75					17																	17030034		2203	4300	6503	SO:0001583	missense	23164			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.286G>A	chr17.hg19:g.17030034G>A	ENSP00000342379:p.Gly96Ser		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	hg19	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203730	0.95033	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73	5.59	5.59	0.84812	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.97826	0.9286	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.993	D	0.98164	1.0448	9	0.66056	D	0.02	.	19.5944	0.95530	0.0:0.0:1.0:0.0	.	96;96	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	S	96	ENSP00000400189:G96S;ENSP00000379156:G96S;ENSP00000379149:G96S;ENSP00000342379:G96S	ENSP00000342379:G96S	G	+	1	0	MPRIP	16970759	1.000000	0.71417	0.993000	0.49108	0.756000	0.42949	9.414000	0.97362	2.642000	0.89623	0.561000	0.74099	GGC		0.602	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		A	17030034	G	A	17030034	3	1	649	1	0	0	0	0	1	0	0	0	9745	1232	43	2	300	2	MPRIP	17	17030034	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08	14131339	17030034	64165176	58	35296											
PHF12	57649	hgsc.bcm.edu	37	17	27251080	27251080	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr17:27251080T>A	ENST00000332830.4	-	4	1372	c.562A>T	c.(562-564)Att>Ttt	p.I188F	RP11-20B24.5_ENST00000582631.1_RNA|RP11-20B24.5_ENST00000580782.1_RNA|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Missense_Mutation_p.I188F|PHF12_ENST00000268756.3_Missense_Mutation_p.I188F	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCCACGTCAATGATGTCTTCG	0.602																																																0													83	65	71					17																	27251080		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.562A>T	chr17.hg19:g.27251080T>A	ENSP00000329933:p.Ile188Phe			Missense_Mutation	SNP	ENST00000332830.4	hg19	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962952	0.53507	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94793	-3.48;-3.52;-3.52	5.8	4.72	0.59763	.	0.213282	0.49305	D	0.000141	D	0.93527	0.7934	L	0.44542	1.39	0.46260	D	0.998956	D;D;B;D	0.57899	0.968;0.981;0.437;0.968	P;P;B;P	0.54026	0.474;0.74;0.068;0.474	D	0.91577	0.5276	10	0.36615	T	0.2	-19.0128	10.4673	0.44616	0.0:0.0766:0.0:0.9234	.	170;188;188;188	B4DFE2;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;PHF12_HUMAN	F	188	ENSP00000329933:I188F;ENSP00000368157:I188F;ENSP00000268756:I188F	ENSP00000268756:I188F	I	-	1	0	PHF12	24275206	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.241000	0.43097	1.031000	0.39867	0.533000	0.62120	ATT		0.602	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		A	27251080	T	A	27251080	3	1	649	1	0	0	0	0	1	0	0	0	11825	1464	51	5	2526	5	PHF12	17	27251080	Missense_Mutation	SNP	T	TCGA-G7-6795-01A-11D-1961-08	10221046	27251080	53944130	59	35297											
GJC1	10052	hgsc.bcm.edu	37	17	42882624	42882624	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr17:42882624C>G	ENST00000426548.1	-	3	831	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	GJC1_ENST00000592524.1_Missense_Mutation_p.E188Q|GJC1_ENST00000330514.4_Missense_Mutation_p.E188Q|GJC1_ENST00000590758.1_Missense_Mutation_p.E188Q	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	188					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AAACCCACCTCAAACACGGTC	0.493																																																0													188	173	178					17																	42882624		2203	4300	6503	SO:0001583	missense	10052			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"Ion channels / Gap junction proteins (connexins)"	4280	protein-coding gene	gene with protein product	"connexin 45"	608655	"gap junction protein, alpha 7, 45kDa"	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.562G>C	chr17.hg19:g.42882624C>G	ENSP00000411528:p.Glu188Gln		B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	hg19	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201522	0.79015	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97850	-4.57;-4.57	5.52	5.52	0.82312	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98674	1.0689	10	0.87932	D	0	.	18.419	0.90582	0.0:1.0:0.0:0.0	.	188	P36383	CXG1_HUMAN	Q	188	ENSP00000411528:E188Q;ENSP00000333193:E188Q	ENSP00000333193:E188Q	E	-	1	0	GJC1	40238150	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.805000	0.86005	2.581000	0.87130	0.514000	0.50259	GAG		0.493	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		G	42882624	C	G	42882624	3	3	649	1	0	0	0	0	1	0	0	0	6416	835	29	4	632	4	GJC1	17	42882624	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	15631544	42882624	38312586	60	35298											
SAMD14	201191	hgsc.bcm.edu	37	17	48190273	48190273	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr17:48190273T>G	ENST00000330175.4	-	10	1555	c.1238A>C	c.(1237-1239)gAg>gCg	p.E413A	SAMD14_ENST00000503131.1_Missense_Mutation_p.E441A	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	413										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CTTCTTGGCCTCCTGCTCTCG	0.697																																																0													40	43	42					17																	48190273		2203	4300	6503	SO:0001583	missense	201191				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.1238A>C	chr17.hg19:g.48190273T>G	ENSP00000329144:p.Glu413Ala		A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	hg19	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.134428	0.56828	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.11	4.02	0.46733	.	0.370723	0.24490	N	0.038069	T	0.47544	0.1451	L	0.27053	0.805	0.27885	N	0.939546	D;B	0.63880	0.993;0.137	D;B	0.68192	0.956;0.046	T	0.37911	-0.9685	9	0.59425	D	0.04	-11.4398	10.0803	0.42386	0.0:0.0:0.1686:0.8313	.	413;441	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	A	413;425;441	.	ENSP00000285206:E425A	E	-	2	0	SAMD14	45545272	0.996000	0.38824	1.000000	0.80357	0.862000	0.49288	2.701000	0.47094	0.773000	0.33404	0.379000	0.24179	GAG		0.697	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		G	48190273	T	G	48190273	3	3	649	1	0	0	0	0	1	0	0	0	13825	1551	54	5	19	5	SAMD14	17	48190273	Missense_Mutation	SNP	T	TCGA-G7-6795-01A-11D-1961-08	5307649	48190273	33004937	61	35299											
CACNA1G	8913	hgsc.bcm.edu	37	17	48669448	48669448	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr17:48669448G>A	ENST00000359106.5	+	13	2905	c.2905G>A	c.(2905-2907)Gcg>Acg	p.A969T	CACNA1G_ENST00000502264.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A969T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A969T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A969T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A969T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A969T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A969T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A969T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A969T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A969T|CACNA1G_ENST00000352832.5_Missense_Mutation_p.A969T	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	969					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCTTCCAGGCGGAGGTAAC	0.582																																																0													50	55	53					17																	48669448		2071	4210	6281	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2905G>A	chr17.hg19:g.48669448G>A	ENSP00000352011:p.Ala969Thr		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	14.26	2.482345	0.44147	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97186	-4.13;-4.12;-4.28;-4.08;-4.13;-4.12;-4.16;-4.26;-4.22;-4.24;-4.25;-4.11;-4.12;-4.2;-4.12;-4.07;-4.16;-4.12;-4.12;-4.16;-4.12;-4.12;-4.16;-4.11;-4.16;-4.17	5.08	1.63	0.23807	.	0.106565	0.64402	N	0.000006	D	0.88142	0.6357	N	0.02916	-0.46	0.33790	D	0.625335	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.22080	0.064;0.0;0.0;0.0;0.0;0.001;0.001;0.0;0.001;0.019;0.0;0.001;0.002;0.0;0.001;0.001;0.007;0.0;0.0;0.001;0.001;0.002;0.0;0.001;0.001;0.013	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.25987	0.017;0.005;0.001;0.005;0.001;0.006;0.004;0.001;0.004;0.013;0.001;0.017;0.02;0.001;0.004;0.007;0.029;0.005;0.001;0.008;0.003;0.007;0.001;0.007;0.001;0.065	T	0.82715	-0.0320	10	0.23891	T	0.37	.	5.465	0.16637	0.6206:0.0:0.3794:0.0	.	969;969;969;969;969;969;969;969;969;969;969;969;969;969;969;969;969;969;969;969;969;969;969;969;969;969	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	T	969	ENSP00000353990:A969T;ENSP00000339302:A969T;ENSP00000392390:A969T;ENSP00000347078:A969T;ENSP00000409759:A969T;ENSP00000425522:A969T;ENSP00000426261:A969T;ENSP00000425451:A969T;ENSP00000422407:A969T;ENSP00000426814:A969T;ENSP00000427238:A969T;ENSP00000423112:A969T;ENSP00000420918:A969T;ENSP00000426172:A969T;ENSP00000423045:A969T;ENSP00000427173:A969T;ENSP00000426098:A969T;ENSP00000425698:A969T;ENSP00000426232:A969T;ENSP00000423317:A969T;ENSP00000350979:A969T;ENSP00000352011:A969T;ENSP00000414388:A969T;ENSP00000423155:A969T;ENSP00000422268:A969T;ENSP00000421518:A969T	ENSP00000339302:A969T	A	+	1	0	CACNA1G	46024447	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	2.660000	0.46749	0.553000	0.29044	0.462000	0.41574	GCG		0.582	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		A	48669448	G	A	48669448	3	1	649	1	0	0	0	0	1	0	0	0	2546	1203	42	2	2955	2	CACNA1G	17	48669448	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08	479175	48669448	32525762	62	35300											
TNRC6C	57690	hgsc.bcm.edu	37	17	76045567	76045567	+	Missense_Mutation	SNP	G	G	T	rs143335497	byFrequency	TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr17:76045567G>T	ENST00000588061.1	+	5	1151	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	TNRC6C_ENST00000301624.4_Missense_Mutation_p.G142W|TNRC6C_ENST00000335749.4_Missense_Mutation_p.G142W|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G142W|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G142W|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G142W			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	142	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAACCAGAACGGGAACCCAAC	0.517																																																0													59	61	60					17																	76045567		2002	4187	6189	SO:0001583	missense	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.424G>T	chr17.hg19:g.76045567G>T	ENSP00000468647:p.Gly142Trp		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	hg19	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988405	0.53934	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15603	2.41;2.42;2.42;2.41	5.36	5.36	0.76844	.	0.166883	0.52532	D	0.000071	T	0.39358	0.1075	L	0.50333	1.59	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.06481	-1.0824	10	0.72032	D	0.01	-11.4286	19.277	0.94036	0.0:0.0:1.0:0.0	.	142;142;142	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	W	142	ENSP00000336783:G142W;ENSP00000301624:G142W;ENSP00000440310:G142W;ENSP00000442421:G142W	ENSP00000301624:G142W	G	+	1	0	TNRC6C	73557162	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.622000	0.61240	2.782000	0.95742	0.655000	0.94253	GGG		0.517	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		T	76045567	G	T	76045567	3	4	649	1	0	0	0	0	1	0	0	0	16347	1116	39	4	426	4	TNRC6C	17	76045567	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08	27376119	76045567	5149643	63	35301											
TBC1D16	125058	hgsc.bcm.edu	37	17	77922704	77922704	+	Missense_Mutation	SNP	C	C	A	rs181752232	byFrequency	TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr17:77922704C>A	ENST00000310924.2	-	8	1623	c.1508G>T	c.(1507-1509)cGg>cTg	p.R503L	TBC1D16_ENST00000576768.1_Missense_Mutation_p.R128L|TBC1D16_ENST00000572862.1_Missense_Mutation_p.R141L|TBC1D16_ENST00000570373.1_Missense_Mutation_p.R142L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.R141L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	503	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GTCTTCCCCCCGGAAGAACTG	0.572																																					Ovarian(14;397 562 4850 31922 49378)											0													222	178	193					17																	77922704		2203	4300	6503	SO:0001583	missense	125058			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1508G>T	chr17.hg19:g.77922704C>A	ENSP00000309794:p.Arg503Leu		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	hg19	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158742	0.57368	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.10477	2.87;2.87	5.18	5.18	0.71444	Rab-GAP/TBC domain (4);	0.132210	0.50627	D	0.000114	T	0.20292	0.0488	L	0.59436	1.845	0.80722	D	1	P;B;B;B	0.38048	0.616;0.327;0.327;0.327	P;B;B;B	0.45138	0.471;0.258;0.258;0.299	T	0.00964	-1.1498	10	0.34782	T	0.22	-12.5599	18.692	0.91586	0.0:1.0:0.0:0.0	.	163;503;503;141	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	L	141;503	ENSP00000341517:R141L;ENSP00000309794:R503L	ENSP00000309794:R503L	R	-	2	0	TBC1D16	75537299	1.000000	0.71417	0.953000	0.39169	0.915000	0.54546	4.631000	0.61304	2.392000	0.81423	0.655000	0.94253	CGG		0.572	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		A	77922704	C	A	77922704	3	1	649	1	0	0	0	0	1	0	0	0	15610	652	23	4	815	4	TBC1D16	17	77922704	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08	1877137	77922704	3272506	64	35302											
DYM	54808	hgsc.bcm.edu	37	18	46645145	46645145	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr18:46645145G>A	ENST00000269445.6	-	15	2172	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	RP11-15F12.3_ENST00000585251.1_RNA|DYM_ENST00000442713.2_Missense_Mutation_p.S382L	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	572					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATCCTGAAATGAAGGATGAGT	0.353																																																0													136	120	126					18																	46645145		2203	4300	6503	SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1715C>T	chr18.hg19:g.46645145G>A	ENSP00000269445:p.Ser572Leu		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	hg19	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094436	0.94149	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.81908	-1.55;-1.55	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.86981	0.6064	L	0.48362	1.52	0.80722	D	1	P;D;P	0.56287	0.879;0.975;0.481	B;P;B	0.56648	0.399;0.803;0.22	D	0.87691	0.2554	10	0.66056	D	0.02	-11.3305	19.412	0.94677	0.0:0.0:1.0:0.0	.	382;394;572	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	L	382;572	ENSP00000395942:S382L;ENSP00000269445:S572L	ENSP00000269445:S572L	S	-	2	0	DYM	44899143	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.827000	0.99397	2.601000	0.87937	0.650000	0.86243	TCA		0.353	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		A	46645145	G	A	46645145	3	1	649	1	0	0	0	0	1	0	0	0	4842	1294	45	2	306	2	DYM	18	46645145	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08		46645145	31432103	65	35303											
USHBP1	83878	hgsc.bcm.edu	37	19	17370111	17370111	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr19:17370111delC	ENST00000252597.3	-	7	1206	c.1033delG	c.(1033-1035)gccfs	p.A345fs	USHBP1_ENST00000431146.2_Frame_Shift_Del_p.A281fs	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TACTGCAAGGCCAGATGCAAT	0.602																																																0													53	49	50					19																	17370111		2203	4300	6503	SO:0001589	frameshift_variant	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1033delG	chr19.hg19:g.17370111delC	ENSP00000252597:p.Ala345fs			Frame_Shift_Del	DEL	ENST00000252597.3	hg19	CCDS12353.1																																																																																				0.602	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		-	17370111	C	-	17370111	7	5	649	1	0	1	0	1	0	0	0	0	17042	739	26	0	1106	0	USHBP1	19	17370111	Frame_Shift_Del	DEL	C	TCGA-G7-6795-01A-11D-1961-08		17370111	41758872	66	35304											
SSBP4	170463	hgsc.bcm.edu	37	19	18538728	18538728	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr19:18538728G>A	ENST00000270061.7	+	4	509	c.215G>A	c.(214-216)tGc>tAc	p.C72Y	SSBP4_ENST00000348495.6_Missense_Mutation_p.C72Y|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	72						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						GACCTGTACTGCGCGGCGCCT	0.667																																																0													77	70	72					19																	18538728		2203	4300	6503	SO:0001583	missense	170463				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.215G>A	chr19.hg19:g.18538728G>A	ENSP00000270061:p.Cys72Tyr		Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	hg19	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288142	0.40494	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.7	3.7	0.42460	.	0.000000	0.85682	U	0.000000	T	0.58921	0.2156	L	0.57536	1.79	0.58432	D	0.999999	B;B	0.25048	0.048;0.117	B;B	0.27715	0.077;0.082	T	0.64193	-0.6465	9	0.72032	D	0.01	-16.1844	12.9926	0.58627	0.0:0.0:1.0:0.0	.	72;72	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	Y	72	.	ENSP00000270061:C72Y	C	+	2	0	SSBP4	18399728	1.000000	0.71417	0.932000	0.37286	0.036000	0.12997	8.730000	0.91510	1.883000	0.54544	0.561000	0.74099	TGC		0.667	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		A	18538728	G	A	18538728	3	1	649	1	0	0	0	0	1	0	0	0	15187	1319	46	2	229	2	SSBP4	19	18538728	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08	1168617	18538728	40590255	67	35305											
SLC25A42	284439	hgsc.bcm.edu	37	19	19218750	19218750	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr19:19218750G>T	ENST00000318596.7	+	7	696	c.545G>T	c.(544-546)gGg>gTg	p.G182V	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	182					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			AGAGAAGAGGGGCTGAAGACT	0.572																																																0													119	105	110					19																	19218750		2203	4300	6503	SO:0001583	missense	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.545G>T	chr19.hg19:g.19218750G>T	ENSP00000326693:p.Gly182Val		D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	hg19	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441353	0.83993	.	.	ENSG00000181035	ENST00000318596	D	0.95238	-3.65	5.26	5.26	0.73747	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99686	1.1000	10	0.87932	D	0	-10.1963	17.8525	0.88751	0.0:0.0:1.0:0.0	.	182	Q86VD7	S2542_HUMAN	V	182	ENSP00000326693:G182V	ENSP00000326693:G182V	G	+	2	0	SLC25A42	19079750	1.000000	0.71417	0.987000	0.45799	0.753000	0.42808	8.259000	0.89855	2.449000	0.82847	0.491000	0.48974	GGG		0.572	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		T	19218750	G	T	19218750	3	4	649	1	0	0	0	0	1	0	0	0	14513	1232	43	4	567	4	SLC25A42	19	19218750	Missense_Mutation	SNP	G	TCGA-G7-6795-01A-11D-1961-08	680022	19218750	39910233	68	35306											
ZNF254	9534	hgsc.bcm.edu	37	19	24310237	24310237	+	Nonsense_Mutation	SNP	A	A	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr19:24310237A>T	ENST00000357002.4	+	4	1550	c.1435A>T	c.(1435-1437)Aga>Tga	p.R479*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.R394*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	479					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AACCCTAACTAGACATAAGAG	0.388																																																0													62	62	62					19																	24310237		2203	4299	6502	SO:0001587	stop_gained	9534			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1435A>T	chr19.hg19:g.24310237A>T	ENSP00000349494:p.Arg479*		A4QPC0|Q86XL7	Nonsense_Mutation	SNP	ENST00000357002.4	hg19	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	A	35	5.491375	0.96339	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	.	.	.	1.07	-2.07	0.07276	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	3.7155	0.08437	0.6048:0.3952:0.0:0.0	.	.	.	.	X	394;479	.	ENSP00000445527:R394X	R	+	1	2	ZNF254	24102077	0.000000	0.05858	0.040000	0.18447	0.918000	0.54935	-0.462000	0.06704	-0.565000	0.06061	0.248000	0.18094	AGA		0.388	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		T	24310237	A	T	24310237	4	4	649	1	0	0	0	0	0	1	0	0	17803	412	15	5	1449	5	ZNF254	19	24310237	Nonsense_Mutation	SNP	A	TCGA-G7-6795-01A-11D-1961-08	5091487	24310237	34818746	69	35307											
SPINT2	10653	hgsc.bcm.edu	37	19	38774304	38774304	+	Silent	SNP	G	G	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr19:38774304G>T	ENST00000301244.7	+	2	579	c.144G>T	c.(142-144)cgG>cgT	p.R48R	SPINT2_ENST00000587090.1_5'UTR|SPINT2_ENST00000454580.3_Intron	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	48	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.	Reactive bond. {ECO:0000250}.			cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCAGATGCCGGGCCTCCATGC	0.562																																																0													170	144	153					19																	38774304		2203	4300	6503	SO:0001819	synonymous_variant	10653			U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"placental bikunin"	605124	"serine protease inhibitor, Kunitz type, 2"			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.144G>T	chr19.hg19:g.38774304G>T			A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Silent	SNP	ENST00000301244.7	hg19	CCDS12510.1																																																																																				0.562	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			T	38774304	G	T	38774304	2	4	649	1	0	0	0	0	0	0	0	1	15074	1219	43	4		4	SPINT2	19	38774304	Silent	SNP	G	TCGA-G7-6795-01A-11D-1961-08	14464067	38774304	20354679	70	35308											
ZNF471	57573	hgsc.bcm.edu	37	19	57037032	57037032	+	Silent	SNP	A	A	G			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr19:57037032A>G	ENST00000308031.5	+	5	1729	c.1596A>G	c.(1594-1596)caA>caG	p.Q532Q	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACCTTGCCCAACATCAGAAAA	0.398																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											0													105	111	109					19																	57037032		2203	4300	6503	SO:0001819	synonymous_variant	57573			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1596A>G	chr19.hg19:g.57037032A>G			B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Silent	SNP	ENST00000308031.5	hg19	CCDS12945.1																																																																																				0.398	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		G	57037032	A	G	57037032	2	3	649	1	0	0	0	0	0	0	0	1	17935	40	2	3		3	ZNF471	19	57037032	Silent	SNP	A	TCGA-G7-6795-01A-11D-1961-08	18262728	57037032	2091951	71	35309											
C20orf70	140683	hgsc.bcm.edu	37	20	31761923	31761923	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr20:31761923C>T	ENST00000253362.2	+	4	487	c.341C>T	c.(340-342)gCt>gTt	p.A114V	BPIFA2_ENST00000354932.5_Missense_Mutation_p.A114V			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	114						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GATGTCAAAGCTGAACCGATC	0.507																																																0													192	132	152					20																	31761923		2203	4300	6503	SO:0001583	missense	140683			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.341C>T	chr20.hg19:g.31761923C>T	ENSP00000253362:p.Ala114Val		Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	hg19	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	C	1.293	-0.607118	0.03717	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.04758	3.56;3.56	4.11	-1.34	0.09143	.	1.919610	0.02314	N	0.072384	T	0.03520	0.0101	N	0.20685	0.6	0.09310	N	1	P	0.39862	0.692	B	0.42692	0.395	T	0.35276	-0.9795	10	0.02654	T	1	-22.3913	3.4184	0.07384	0.1782:0.4121:0.0:0.4097	.	114	Q96DR5	BPIA2_HUMAN	V	114	ENSP00000253362:A114V;ENSP00000347012:A114V	ENSP00000253362:A114V	A	+	2	0	BPIFA2	31225584	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.978000	0.01494	-0.194000	0.10399	0.561000	0.74099	GCT		0.507	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		T	31761923	C	T	31761923	3	4	649	1	0	0	0	0	1	0	0	0	2118	797	28	2	351	2	C20orf70	20	31761923	Missense_Mutation	SNP	C	TCGA-G7-6795-01A-11D-1961-08		31761923	31263597	72	35310											
GNAS	2778	hgsc.bcm.edu	37	20	57415512	57415512	+	Silent	SNP	C	C	A			TCGA-G7-6795-01A-11D-1961-08	TCGA-G7-6795-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1af4c17e-514e-4b9d-bfcb-ed019430178f	0428b3c1-9f63-45bc-8457-3fffb9bcf9fb	g.chr20:57415512C>A	ENST00000313949.7	+	1	740	c.351C>A	c.(349-351)tcC>tcA	p.S117S	GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Silent_p.S117S|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Silent_p.S117S			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGACCGAGTCCGAAATCGAGT	0.642			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													101	94	96					20																	57415512		2203	4300	6503	SO:0001819	synonymous_variant	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.351C>A	chr20.hg19:g.57415512C>A			A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	hg19	CCDS13471.1																																																																																				0.642	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		A	57415512	C	A	57415512	2	1	649	1	0	0	0	0	0	0	0	1	6512	639	23	4		4	GNAS	20	57415512	Silent	SNP	C	TCGA-G7-6795-01A-11D-1961-08	25653589	57415512	5610008	73	35311											
RPL22	6146	hgsc.bcm.edu	37	1	6246873	6246873	+	Nonsense_Mutation	SNP	A	A	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:6246873A>T	ENST00000234875.4	-	4	284	c.246T>A	c.(244-246)taT>taA	p.Y82*	RPL22_ENST00000484532.1_Intron|RPL22_ENST00000497965.1_Nonsense_Mutation_p.Y49*	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	82					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GATATTTCAAATACCTGCAGA	0.358			T	RUNX1	"AML, CML"																																		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	0													46	47	46					1																	6246873		2202	4300	6502	SO:0001587	stop_gained	6146			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"L ribosomal proteins"	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.246T>A	chr1.hg19:g.6246873A>T	ENSP00000346088:p.Tyr82*		B2R495|Q6IBD1	Nonsense_Mutation	SNP	ENST00000234875.4	hg19	CCDS58.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279556	0.80692	.	.	ENSG00000116251	ENST00000234875	.	.	.	5.43	4.31	0.51392	.	0.122602	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.2758	7.3535	0.26706	0.7815:0.0:0.2185:0.0	.	.	.	.	X	82	.	ENSP00000346088:Y82X	Y	-	3	2	RPL22	6169460	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.692000	0.47018	0.906000	0.36621	0.379000	0.24179	TAT		0.358	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983		T	6246873	A	T	6246873	4	4	650	1	0	0	0	0	0	1	0	0	13574	108	4	5	144	5	RPL22	1	6246873	Nonsense_Mutation	SNP	A	TCGA-G7-6796-01A-11D-1961-08		6246873	243003748	1	35312											
ARID1A	8289	hgsc.bcm.edu	37	1	27094329	27094329	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:27094329G>A	ENST00000324856.7	+	11	3408	c.3037G>A	c.(3037-3039)Gag>Aag	p.E1013K	ARID1A_ENST00000457599.2_Missense_Mutation_p.E1013K|ARID1A_ENST00000374152.2_Missense_Mutation_p.E630K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1013					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAAGTTGTATGAGCTGGGTGG	0.488			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													146	122	130					1																	27094329		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3037G>A	chr1.hg19:g.27094329G>A	ENSP00000320485:p.Glu1013Lys		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	hg19	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703514	0.96812	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.46819	0.86;0.86;0.86	5.17	5.17	0.71159	ARID/BRIGHT DNA-binding domain (2);	0.049842	0.85682	D	0.000000	T	0.64886	0.2639	L	0.59436	1.845	0.80722	D	1	D;D;D	0.67145	0.995;0.996;0.993	D;D;P	0.65323	0.909;0.934;0.861	T	0.64601	-0.6369	10	0.51188	T	0.08	-14.8758	18.8566	0.92255	0.0:0.0:1.0:0.0	.	1013;1013;667	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	K	1013;1013;630	ENSP00000320485:E1013K;ENSP00000387636:E1013K;ENSP00000363267:E630K	ENSP00000320485:E1013K	E	+	1	0	ARID1A	26966916	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.678000	0.91216	0.655000	0.94253	GAG		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		A	27094329	G	A	27094329	3	1	650	1	0	0	0	0	1	0	0	0	913	1291	45	2	3079	2	ARID1A	1	27094329	Missense_Mutation	SNP	G	TCGA-G7-6796-01A-11D-1961-08	20847456	27094329	222156292	2	35313											
ADAR	103	hgsc.bcm.edu	37	1	154574720	154574720	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:154574720A>T	ENST00000368474.4	-	2	597	c.398T>A	c.(397-399)cTg>cAg	p.L133Q	ADAR_ENST00000292205.5_Missense_Mutation_p.L176Q|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	133					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTAGATACTCAGTTCCTGGAA	0.517																																																0													65	67	66					1																	154574720		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.398T>A	chr1.hg19:g.154574720A>T	ENSP00000357459:p.Leu133Gln		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	hg19	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736498	0.69304	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.79749	-1.3;-1.3;-1.3	4.47	4.47	0.54385	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (2);	0.910334	0.09504	N	0.793175	D	0.86008	0.5830	M	0.63843	1.955	0.53688	D	0.999979	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.85130	0.972;0.992;0.997	D	0.83933	0.0307	10	0.87932	D	0	-11.1093	13.8697	0.63610	1.0:0.0:0.0:0.0	.	133;133;133	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	Q	176;133;128	ENSP00000292205:L176Q;ENSP00000357459:L133Q;ENSP00000431794:L128Q	ENSP00000292205:L176Q	L	-	2	0	ADAR	152841344	1.000000	0.71417	0.166000	0.22797	0.666000	0.39218	6.906000	0.75719	1.992000	0.58205	0.402000	0.26972	CTG		0.517	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		T	154574720	A	T	154574720	3	4	650	1	0	0	0	0	1	0	0	0	281	188	7	5	3338	5	ADAR	1	154574720	Missense_Mutation	SNP	A	TCGA-G7-6796-01A-11D-1961-08	127480391	154574720	94675901	3	35314											
FCRL4	83417	hgsc.bcm.edu	37	1	157559028	157559028	+	Silent	SNP	T	T	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:157559028T>C	ENST00000271532.1	-	3	408	c.273A>G	c.(271-273)ccA>ccG	p.P91P	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	91	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGTTACTTCGTGGGGAGCCCC	0.498																																																0													74	79	77					1																	157559028		2203	4300	6503	SO:0001819	synonymous_variant	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.273A>G	chr1.hg19:g.157559028T>C			Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	hg19	CCDS1166.1																																																																																				0.498	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		C	157559028	T	C	157559028	2	2	650	1	0	0	0	0	0	0	0	1	5799	1683	59	3		3	FCRL4	1	157559028	Silent	SNP	T	TCGA-G7-6796-01A-11D-1961-08	2984308	157559028	91691593	4	35315											
MPZL1	9019	hgsc.bcm.edu	37	1	167745333	167745333	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:167745333A>C	ENST00000359523.2	+	5	840	c.638A>C	c.(637-639)aAg>aCg	p.K213T	MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000474859.1_Intron|MPZL1_ENST00000392121.3_Intron	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	213					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TCACCAGTTAAGCAGGCTCCT	0.413																																																0													76	74	75					1																	167745333		2203	4300	6503	SO:0001583	missense	9019			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.638A>C	chr1.hg19:g.167745333A>C	ENSP00000352513:p.Lys213Thr		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	hg19	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313200	0.81358	.	.	ENSG00000197965	ENST00000359523	D	0.96365	-3.99	5.28	5.28	0.74379	.	.	.	.	.	D	0.95370	0.8497	L	0.29908	0.895	0.33196	D	0.551469	D	0.71674	0.998	D	0.78314	0.991	D	0.94904	0.8059	8	0.33141	T	0.24	.	14.4968	0.67694	1.0:0.0:0.0:0.0	.	213	O95297	MPZL1_HUMAN	T	213	ENSP00000352513:K213T	ENSP00000352513:K213T	K	+	2	0	MPZL1	166011957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.562000	0.53777	2.307000	0.77673	0.528000	0.53228	AAG		0.413	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		C	167745333	A	C	167745333	3	2	650	1	0	0	0	0	1	0	0	0	9751	72	3	5	656	5	MPZL1	1	167745333	Missense_Mutation	SNP	A	TCGA-G7-6796-01A-11D-1961-08	10186305	167745333	81505288	5	35316											
CACYBP	27101	hgsc.bcm.edu	37	1	174979129	174979129	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:174979129G>T	ENST00000367679.2	+	6	1049	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	CACYBP_ENST00000367681.2_Missense_Mutation_p.D158Y|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000405362.1_Missense_Mutation_p.D158Y	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	201	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AATTTATGAAGATGGAGACGA	0.383																																																0													86	85	85					1																	174979129		2203	4300	6503	SO:0001583	missense	27101			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.601G>T	chr1.hg19:g.174979129G>T	ENSP00000356652:p.Asp201Tyr		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	hg19	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891415	0.91889	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	T;T	0.58060	0.36;0.36	5.89	5.89	0.94794	SGS (2);HSP20-like chaperone (1);	0.132069	0.64402	D	0.000002	T	0.68091	0.2963	M	0.79258	2.445	0.80722	D	1	P	0.48589	0.912	P	0.50791	0.65	T	0.71031	-0.4710	10	0.72032	D	0.01	-24.1569	20.2561	0.98419	0.0:0.0:1.0:0.0	.	201	Q9HB71	CYBP_HUMAN	Y	158;174;201;158	ENSP00000356654:D158Y;ENSP00000385771:D158Y	ENSP00000356652:D201Y	D	+	1	0	CACYBP	173245752	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.296000	0.96104	2.797000	0.96272	0.563000	0.77884	GAT		0.383	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		T	174979129	G	T	174979129	3	4	650	1	0	0	0	0	1	0	0	0	2566	942	33	4	623	4	CACYBP	1	174979129	Missense_Mutation	SNP	G	TCGA-G7-6796-01A-11D-1961-08	7233796	174979129	74271492	6	35317											
NAV1	89796	hgsc.bcm.edu	37	1	201762968	201762968	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:201762968C>G	ENST00000367296.4	+	14	3790	c.3370C>G	c.(3370-3372)Cgc>Ggc	p.R1124G	NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367302.1_Missense_Mutation_p.R1080G|NAV1_ENST00000367295.1_Missense_Mutation_p.R733G|NAV1_ENST00000295624.6_Missense_Mutation_p.R1124G|NAV1_ENST00000367300.3_Missense_Mutation_p.R1067G|NAV1_ENST00000367297.4_Missense_Mutation_p.R1116G|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1124					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TATGACATCCCGCCTGCGACA	0.582																																																0													70	66	67					1																	201762968		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3370C>G	chr1.hg19:g.201762968C>G	ENSP00000356265:p.Arg1124Gly		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	hg19	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.841219|4.841219	0.91197|0.91197	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|D;D;D;D;D;D	.|0.94497	.|-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|0.058638	.|0.64402	.|D	.|0.000002	D|D	0.97037|0.97037	0.9032|0.9032	M|M	0.73598|0.73598	2.24|2.24	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D;D;D;D	.|0.89917	.|1.0;0.997;0.996;0.998;1.0	.|D;D;D;D;D	.|0.87578	.|0.998;0.932;0.948;0.991;0.998	D|D	0.97499|0.97499	1.0059|1.0059	5|10	.|0.72032	.|D	.|0.01	-24.902|-24.902	17.9873|17.9873	0.89159|0.89159	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1116;733;1124;624;1124	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	R|G	673|1080;1124;1124;1116;1067;624;733	.|ENSP00000356271:R1080G;ENSP00000356265:R1124G;ENSP00000295624:R1124G;ENSP00000356266:R1116G;ENSP00000356269:R1067G;ENSP00000356264:R733G	.|ENSP00000295624:R1124G	P|R	+|+	2|1	0|0	NAV1|NAV1	200029591|200029591	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.939000|0.939000	0.58152|0.58152	5.512000|5.512000	0.67030|0.67030	2.557000|2.557000	0.86248|0.86248	0.462000|0.462000	0.41574|0.41574	CCG|CGC		0.582	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		G	201762968	C	G	201762968	3	3	650	1	0	0	0	0	1	0	0	0	10185	652	23	4	3481	4	NAV1	1	201762968	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08	26783839	201762968	47487653	7	35318											
TRAF5	7188	hgsc.bcm.edu	37	1	211545951	211545952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr1:211545951_211545952insC	ENST00000261464.5	+	11	1635_1636	c.1581_1582insC	c.(1582-1584)tctfs	p.S528fs	TRAF5_ENST00000336184.2_Frame_Shift_Ins_p.S528fs|TRAF5_ENST00000367004.3_Frame_Shift_Ins_p.S528fs|TRAF5_ENST00000427925.2_Frame_Shift_Ins_p.S422fs	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	528	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTGTGGCTCATTCTGTTTTGGA	0.465																																																0																																										SO:0001589	frameshift_variant	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	Exception_encountered	chr1.hg19:g.211545951_211545952insC	ENSP00000261464:p.Ser528fs		B4DIS9|B4E0A2|Q6FHY1	Frame_Shift_Ins	INS	ENST00000261464.5	hg19	CCDS1497.1																																																																																				0.465	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		C	211545952	-	C	211545951	7	5	650	1	0	1	1	0	0	0	0	0	16449	1490	52	0	1619	0	TRAF5	1	211545951	Frame_Shift_Ins	INS	-	TCGA-G7-6796-01A-11D-1961-08	9782983	211545951	37704670	8	35319											
XDH	7498	hgsc.bcm.edu	37	2	31595113	31595113	+	Silent	SNP	G	G	T	rs201668777	byFrequency	TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr2:31595113G>T	ENST00000379416.3	-	17	1885	c.1837C>A	c.(1837-1839)Cgg>Agg	p.R613R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	613					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GCGTGGGCCCGGGTGCTGGTG	0.627																																					Colon(66;682 1445 30109 40147)											0													98	104	102					2																	31595113		2203	4300	6503	SO:0001819	synonymous_variant	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1837C>A	chr2.hg19:g.31595113G>T			Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	hg19	CCDS1775.1																																																																																				0.627	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		T	31595113	G	T	31595113	2	4	650	1	0	0	0	0	0	0	0	1	17431	1115	39	4		4	XDH	2	31595113	Silent	SNP	G	TCGA-G7-6796-01A-11D-1961-08		31595113	211604260	9	35320											
ABCA12	26154	hgsc.bcm.edu	37	2	215865500	215865500	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr2:215865500T>G	ENST00000272895.7	-	22	3327	c.3108A>C	c.(3106-3108)caA>caC	p.Q1036H	ABCA12_ENST00000389661.4_Missense_Mutation_p.Q718H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1036					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCTTCCAGTTTGCAATTCAA	0.428																																					Ovarian(66;664 1488 5121 34295)											0													125	130	128					2																	215865500		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3108A>C	chr2.hg19:g.215865500T>G	ENSP00000272895:p.Gln1036His		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533445	0.45073	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95656	-3.77;-3.77	5.73	2.68	0.31781	.	0.087482	0.49916	D	0.000121	D	0.92456	0.7605	L	0.43152	1.355	0.80722	D	1	B;B	0.32467	0.136;0.372	B;B	0.38156	0.152;0.266	D	0.89343	0.3655	10	0.66056	D	0.02	.	8.1984	0.31411	0.0:0.731:0.0:0.269	.	1036;718	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	H	1036;718	ENSP00000272895:Q1036H;ENSP00000374312:Q718H	ENSP00000272895:Q1036H	Q	-	3	2	ABCA12	215573745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.506000	0.45433	0.612000	0.30071	0.454000	0.30748	CAA		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		G	215865500	T	G	215865500	3	3	650	1	0	0	0	0	1	0	0	0	30	1838	64	5	4807	5	ABCA12	2	215865500	Missense_Mutation	SNP	T	TCGA-G7-6796-01A-11D-1961-08	184270387	215865500	27333873	10	35321											
C2orf62	375307	hgsc.bcm.edu	37	2	219222364	219222364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr2:219222364C>T	ENST00000289388.3	+	3	255	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		76					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGAAATACCAGGAAAAACT	0.552																																																0													72	63	66					2																	219222364		2203	4300	6503	SO:0001587	stop_gained	375307																														ENST00000289388.3:c.226C>T	chr2.hg19:g.219222364C>T	ENSP00000289388:p.Gln76*			Nonsense_Mutation	SNP	ENST00000289388.3	hg19	CCDS2414.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987633	0.35036	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.56	-4.72	0.03269	.	1.478090	0.03845	N	0.271323	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.2458	4.8866	0.13706	0.2205:0.5606:0.0905:0.1283	.	.	.	.	X	76	.	ENSP00000289388:Q76X	Q	+	1	0	C2orf62	218930608	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.212000	0.17497	-0.542000	0.06249	-0.457000	0.05445	CAG		0.552	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			T	219222364	C	T	219222364	4	4	650	1	0	0	0	0	0	1	0	0	2183	595	21	2	236	2	C2orf62	2	219222364	Nonsense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08	3356864	219222364	23977009	11	35322											
SP100	6672	hgsc.bcm.edu	37	2	231338157	231338157	+	Splice_Site	DEL	T	T	-			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr2:231338157delT	ENST00000264052.5	+	16	1901		c.e16+2		SP100_ENST00000409112.1_Splice_Site|SP100_ENST00000340126.4_Splice_Site	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen						cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACATGATGGGTAAGGCTACCC	0.468																																																0													164	152	156					2																	231338157		2203	4300	6503	SO:0001630	splice_region_variant	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1546+2T>-	chr2.hg19:g.231338157delT			B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Splice_Site	DEL	ENST00000264052.5	hg19	CCDS2477.1																																																																																				0.468	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113	Intron	-	231338157	T	-	231338157	8	5	650	1	0	1	0	1	0	0	1	0	14966	1652	57	0	1610	0	SP100	2	231338157	Splice_Site	DEL	T	TCGA-G7-6796-01A-11D-1961-08	12115793	231338157	11861216	12	35323											
SLC25A38	54977	hgsc.bcm.edu	37	3	39431018	39431018	+	Silent	SNP	C	C	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr3:39431018C>T	ENST00000273158.4	+	2	479	c.102C>T	c.(100-102)ggC>ggT	p.G34G		NM_017875.2	NP_060345.2			solute carrier family 25, member 38									p.G34G(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCCTGTGTGGCTCCATCAGTG	0.522																																																1	Substitution - coding silent(1)	large_intestine(1)											209	174	186					3																	39431018		2203	4300	6503	SO:0001819	synonymous_variant	54977			BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"Solute carriers"	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.102C>T	chr3.hg19:g.39431018C>T				Silent	SNP	ENST00000273158.4	hg19	CCDS2685.1																																																																																				0.522	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		T	39431018	C	T	39431018	2	4	650	1	0	0	0	0	0	0	0	1	14508	784	28	2		2	SLC25A38	3	39431018	Silent	SNP	C	TCGA-G7-6796-01A-11D-1961-08		39431018	158591412	13	35324											
TNFSF10	8743	hgsc.bcm.edu	37	3	172232704	172232704	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr3:172232704T>C	ENST00000241261.2	-	2	339	c.217A>G	c.(217-219)Atg>Gtg	p.M73V	TNFSF10_ENST00000420541.2_Missense_Mutation_p.M73V	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	73					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGGCTGTTCATACTCTCTTCG	0.502																																																0													144	137	140					3																	172232704		2203	4300	6503	SO:0001583	missense	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.217A>G	chr3.hg19:g.172232704T>C	ENSP00000241261:p.Met73Val		A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	hg19	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.547137	0.00140	.	.	ENSG00000121858	ENST00000241261;ENST00000420541	D;T	0.86366	-2.11;1.59	5.61	-1.89	0.07689	.	0.989409	0.08265	N	0.972345	T	0.71804	0.3383	L	0.34521	1.04	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.11329	0.006;0.001	T	0.57136	-0.7863	10	0.05351	T	0.99	-3.1928	0.8408	0.01149	0.3634:0.1464:0.1187:0.3715	.	73;73	A1Y9B3;P50591	.;TNF10_HUMAN	V	73	ENSP00000241261:M73V;ENSP00000389931:M73V	ENSP00000241261:M73V	M	-	1	0	TNFSF10	173715398	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.552000	0.23376	-0.567000	0.06046	-0.256000	0.11100	ATG		0.502	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			C	172232704	T	C	172232704	3	2	650	1	0	0	0	0	1	0	0	0	16306	1406	49	3	644	3	TNFSF10	3	172232704	Missense_Mutation	SNP	T	TCGA-G7-6796-01A-11D-1961-08	132801686	172232704	25789726	14	35325											
ACOX3	8310	hgsc.bcm.edu	37	4	8372681	8372681	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr4:8372681G>A	ENST00000356406.5	-	17	2014	c.1937C>T	c.(1936-1938)cCt>cTt	p.P646L	ACOX3_ENST00000503233.1_Missense_Mutation_p.P646L|ACOX3_ENST00000413009.2_Silent_p.S623S|ACOX3_ENST00000515797.1_5'UTR	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	646					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AAAGTCAGGAGGAGCGATCAC	0.562																																																0													120	104	109					4																	8372681		2203	4300	6503	SO:0001583	missense	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1937C>T	chr4.hg19:g.8372681G>A	ENSP00000348775:p.Pro646Leu		Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	hg19	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577015	0.86645	.	.	ENSG00000087008	ENST00000356406;ENST00000503233	T;T	0.38401	1.14;1.14	4.88	4.88	0.63580	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.069225	0.64402	N	0.000015	T	0.50718	0.1632	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38628	-0.9652	9	0.11182	T	0.66	-18.1485	15.4924	0.75619	0.0:0.0:1.0:0.0	.	646	O15254	ACOX3_HUMAN	L	646	ENSP00000348775:P646L;ENSP00000421625:P646L	ENSP00000348775:P646L	P	-	2	0	ACOX3	8423581	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	6.945000	0.75947	2.226000	0.72624	0.549000	0.68633	CCT		0.562	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			A	8372681	G	A	8372681	3	1	650	1	0	0	0	0	1	0	0	0	160	1000	35	2	173	2	ACOX3	4	8372681	Missense_Mutation	SNP	G	TCGA-G7-6796-01A-11D-1961-08		8372681	182781595	15	35326											
CENPC1	1060	hgsc.bcm.edu	37	4	68385012	68385012	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr4:68385012C>G	ENST00000273853.6	-	6	790	c.540G>C	c.(538-540)aaG>aaC	p.K180N		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	180					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										AAGTCTCTCTCTTTTGGGCAC	0.323																																																0													88	83	84					4																	68385012		1809	4078	5887	SO:0001583	missense	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.540G>C	chr4.hg19:g.68385012C>G	ENSP00000273853:p.Lys180Asn		Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	hg19	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463886	0.26335	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.75	0.447	0.16608	.	0.626565	0.15039	N	0.283991	T	0.39226	0.1070	L	0.59436	1.845	0.28032	N	0.9341	D;D	0.65815	0.995;0.995	P;P	0.53954	0.738;0.738	T	0.30592	-0.9973	9	0.72032	D	0.01	-2.2885	2.5395	0.04722	0.3496:0.401:0.1533:0.0961	.	180;180	Q8IW27;Q03188	.;CENPC_HUMAN	N	180	.	ENSP00000273853:K180N	K	-	3	2	CENPC1	68067607	0.030000	0.19436	0.952000	0.39060	0.104000	0.19210	-0.627000	0.05521	0.173000	0.19788	-0.293000	0.09583	AAG		0.323	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			G	68385012	C	G	68385012	3	3	650	1	0	0	0	0	1	0	0	0	3231	912	32	4	2347	4	CENPC1	4	68385012	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08	60012331	68385012	122769264	16	35327											
GC	2638	hgsc.bcm.edu	37	4	72629625	72629625	+	Nonsense_Mutation	SNP	C	C	A	rs371509305		TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr4:72629625C>A	ENST00000273951.8	-	5	845	c.502G>T	c.(502-504)Gga>Tga	p.G168*	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Nonsense_Mutation_p.G168*|GC_ENST00000504199.1_Nonsense_Mutation_p.G187*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	168	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.			G -> E (in Ref. 1; AAA52173). {ECO:0000305}.	small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GGAGCTTGTCCGTAATTAGTG	0.358																																																0													87	90	89					4																	72629625		2203	4300	6503	SO:0001587	stop_gained	2638			L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.502G>T	chr4.hg19:g.72629625C>A	ENSP00000273951:p.Gly168*		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Nonsense_Mutation	SNP	ENST00000273951.8	hg19	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	37	6.603213	0.97697	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	.	.	.	5.49	5.49	0.81192	.	0.123122	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	13.6514	0.62312	0.0:0.9245:0.0:0.0755	.	.	.	.	X	168;187;168	.	ENSP00000273951:G168X	G	-	1	0	GC	72848489	0.989000	0.36119	1.000000	0.80357	0.768000	0.43524	1.917000	0.39996	2.727000	0.93392	0.650000	0.86243	GGA		0.358	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			A	72629625	C	A	72629625	4	1	650	1	0	0	0	0	0	1	0	0	6284	661	23	4	954	4	GC	4	72629625	Nonsense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08	4244613	72629625	118524651	17	35328											
RNF150	57484	hgsc.bcm.edu	37	4	141832440	141832440	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr4:141832440G>C	ENST00000515673.2	-	6	1089	c.1056C>G	c.(1054-1056)aaC>aaG	p.N352K	RNF150_ENST00000420921.2_Missense_Mutation_p.N211K|RNF150_ENST00000379512.2_Missense_Mutation_p.N211K|RNF150_ENST00000507500.1_Missense_Mutation_p.N352K|RNF150_ENST00000306799.3_Missense_Mutation_p.N310K			Q9ULK6	RN150_HUMAN	ring finger protein 150	352						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CTGTGATCTGGTTGGTGGGTG	0.557																																																0													100	93	95					4																	141832440		2203	4300	6503	SO:0001583	missense	57484			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"RING-type (C3HC4) zinc fingers"	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.1056C>G	chr4.hg19:g.141832440G>C	ENSP00000425840:p.Asn352Lys		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	hg19	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474491	0.63737	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.15139	2.45;2.45;2.49;3.47;3.48;2.51	5.74	0.749	0.18381	.	0.472179	0.23614	N	0.046304	T	0.16257	0.0391	L	0.29908	0.895	0.51767	D	0.999932	P;B;B	0.40970	0.734;0.294;0.415	P;B;B	0.47528	0.549;0.299;0.334	T	0.03103	-1.1072	10	0.46703	T	0.11	.	9.3149	0.37928	0.5802:0.0:0.4198:0.0	.	310;352;352	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	K	211;211;310;352;352;183	ENSP00000368827:N211K;ENSP00000394581:N211K;ENSP00000304321:N310K;ENSP00000425840:N352K;ENSP00000425568:N352K;ENSP00000425947:N183K	ENSP00000304321:N310K	N	-	3	2	RNF150	142051890	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	0.973000	0.29422	0.180000	0.19960	0.655000	0.94253	AAC		0.557	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		C	141832440	G	C	141832440	3	2	650	1	0	0	0	0	1	0	0	0	13457	1252	44	4	268	4	RNF150	4	141832440	Missense_Mutation	SNP	G	TCGA-G7-6796-01A-11D-1961-08	69202815	141832440	49321836	18	35329											
SCAND3	114821	hgsc.bcm.edu	37	6	28554157	28554157	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr6:28554157C>A	ENST00000452236.2	-	1	955	c.338G>T	c.(337-339)cGg>cTg	p.R113L	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTATGCTCCCGCACCCAAGA	0.527																																																0													123	130	128					6																	28554157		2203	4300	6503	SO:0001583	missense	114821																														ENST00000452236.2:c.338G>T	chr6.hg19:g.28554157C>A	ENSP00000395259:p.Arg113Leu			Missense_Mutation	SNP	ENST00000452236.2	hg19	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009764	0.54361	.	.	ENSG00000232040	ENST00000452236	T	0.04551	3.6	3.46	1.66	0.24008	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.08670	0.0215	M	0.82056	2.57	0.25606	N	0.986544	D	0.71674	0.998	D	0.73708	0.981	T	0.11012	-1.0605	9	0.87932	D	0	.	5.6758	0.17747	0.0:0.6443:0.0:0.3557	.	113	Q6R2W3	SCND3_HUMAN	L	113	ENSP00000395259:R113L	ENSP00000395259:R113L	R	-	2	0	SCAND3	28662136	0.000000	0.05858	0.683000	0.30040	0.759000	0.43091	-0.482000	0.06544	0.291000	0.22468	0.655000	0.94253	CGG		0.527	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			A	28554157	C	A	28554157	3	1	650	1	0	0	0	0	1	0	0	0	13882	652	23	4	3655	4	SCAND3	6	28554157	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08		28554157	142560910	19	35330											
LMBRD1	55788	hgsc.bcm.edu	37	6	70462182	70462182	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr6:70462182T>C	ENST00000370577.3	-	4	603	c.374A>G	c.(373-375)gAa>gGa	p.E125G	LMBRD1_ENST00000370570.1_Missense_Mutation_p.E52G	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	125					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATCATCCTTTTCTTCATAATA	0.294																																																0													54	56	56					6																	70462182		2197	4278	6475	SO:0001583	missense	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.374A>G	chr6.hg19:g.70462182T>C	ENSP00000359609:p.Glu125Gly		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	hg19	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.102734	0.56183	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.26067	1.76;1.76	5.33	4.15	0.48705	LMBR1-like membrane protein (1);	0.051951	0.85682	D	0.000000	T	0.19805	0.0476	M	0.85462	2.755	0.58432	D	0.999998	B	0.18968	0.032	B	0.22880	0.042	T	0.09487	-1.0672	10	0.39692	T	0.17	-12.1431	10.4775	0.44674	0.0:0.0797:0.0:0.9203	.	125	Q9NUN5	LMBD1_HUMAN	G	125;52	ENSP00000359609:E125G;ENSP00000359602:E52G	ENSP00000359602:E52G	E	-	2	0	LMBRD1	70518903	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.495000	0.66912	2.022000	0.59522	0.455000	0.32223	GAA		0.294	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		C	70462182	T	C	70462182	3	2	650	1	0	0	0	0	1	0	0	0	8844	1783	62	3	1300	3	LMBRD1	6	70462182	Missense_Mutation	SNP	T	TCGA-G7-6796-01A-11D-1961-08	41908025	70462182	100652885	20	35331											
SYNE1	23345	hgsc.bcm.edu	37	6	152673335	152673335	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr6:152673335T>C	ENST00000367255.5	-	70	12008	c.11407A>G	c.(11407-11409)Act>Gct	p.T3803A	SYNE1_ENST00000448038.1_Missense_Mutation_p.T3788A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T3774A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T3803A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T3788A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3803					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCGGACAGTGCTGGTCAGT	0.448										HNSCC(10;0.0054)																																						0													251	230	237					6																	152673335		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11407A>G	chr6.hg19:g.152673335T>C	ENSP00000356224:p.Thr3803Ala		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	9.518	1.107572	0.20714	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34072	1.45;1.45;1.45;1.45;1.38	6.04	2.28	0.28536	.	0.339507	0.25194	N	0.032438	T	0.07638	0.0192	L	0.43152	1.355	0.09310	N	0.999998	B;B;B;B	0.09022	0.002;0.002;0.002;0.001	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.39603	-0.9606	10	0.08837	T	0.75	.	4.3779	0.11279	0.2094:0.2204:0.0:0.5702	.	3803;3803;3803;3788	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	A	3803;3788;3803;3788;3774	ENSP00000356224:T3803A;ENSP00000396024:T3788A;ENSP00000265368:T3803A;ENSP00000390975:T3788A;ENSP00000341887:T3774A	ENSP00000265368:T3803A	T	-	1	0	SYNE1	152715028	0.076000	0.21285	0.602000	0.28890	0.876000	0.50452	0.615000	0.24329	0.155000	0.19261	0.460000	0.39030	ACT		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		C	152673335	T	C	152673335	3	2	650	1	0	0	0	0	1	0	0	0	15450	1696	59	3	15367	3	SYNE1	6	152673335	Missense_Mutation	SNP	T	TCGA-G7-6796-01A-11D-1961-08	82211153	152673335	18441732	21	35332											
PKD1L1	168507	hgsc.bcm.edu	37	7	47898372	47898372	+	Missense_Mutation	SNP	C	C	A	rs146609164	byFrequency	TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr7:47898372C>A	ENST00000289672.2	-	27	4311	c.4261G>T	c.(4261-4263)Ggt>Tgt	p.G1421C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1421	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GATATGAGACCGATGAGCTCA	0.483																																																0													135	131	133					7																	47898372		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4261G>T	chr7.hg19:g.47898372C>A	ENSP00000289672:p.Gly1421Cys		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	8.989	0.977345	0.18812	.	.	ENSG00000158683	ENST00000289672	T	0.19250	2.16	5.03	0.111	0.14619	Egg jelly receptor, REJ-like (1);	2.019780	0.02131	N	0.056369	T	0.13628	0.0330	N	0.22421	0.69	0.09310	N	1	P	0.35600	0.511	B	0.31869	0.137	T	0.13872	-1.0493	10	0.39692	T	0.17	0.4077	4.0897	0.09963	0.3374:0.3834:0.2792:0.0	.	1421	Q8TDX9	PK1L1_HUMAN	C	1421	ENSP00000289672:G1421C	ENSP00000289672:G1421C	G	-	1	0	PKD1L1	47864897	0.013000	0.17824	0.000000	0.03702	0.005000	0.04900	0.268000	0.18571	-0.126000	0.11682	-0.171000	0.13296	GGT		0.483	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		A	47898372	C	A	47898372	3	1	650	1	0	0	0	0	1	0	0	0	11966	652	23	4	4412	4	PKD1L1	7	47898372	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08		47898372	111240291	22	35333											
C7orf42	55069	hgsc.bcm.edu	37	7	66410208	66410208	+	Silent	SNP	T	T	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr7:66410208T>C	ENST00000341567.4	+	3	660	c.405T>C	c.(403-405)caT>caC	p.H135H		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	135						integral component of membrane (GO:0016021)											ACGTCACCCATCTGTACTCAA	0.527																																																0													107	105	106					7																	66410208		2203	4300	6503	SO:0001819	synonymous_variant	55069				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.405T>C	chr7.hg19:g.66410208T>C			Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	hg19	CCDS5536.1																																																																																				0.527	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		C	66410208	T	C	66410208	2	2	650	1	0	0	0	0	0	0	0	1	2394	1432	50	3		3	C7orf42	7	66410208	Silent	SNP	T	TCGA-G7-6796-01A-11D-1961-08	18511836	66410208	92728455	23	35334											
ING3	54556	hgsc.bcm.edu	37	7	120595620	120595620	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr7:120595620A>G	ENST00000315870.5	+	4	357	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	ING3_ENST00000339121.5_Missense_Mutation_p.Y70C|ING3_ENST00000445699.1_Missense_Mutation_p.Y70C|ING3_ENST00000431467.1_Missense_Mutation_p.Y55C	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	70					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					CAGGACTACTATAAAGCTTTG	0.303																																																0													78	79	78					7																	120595620		2203	4300	6503	SO:0001583	missense	54556			AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"Zinc fingers, PHD-type"	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.209A>G	chr7.hg19:g.120595620A>G	ENSP00000320566:p.Tyr70Cys		A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	hg19	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990024	0.74589	.	.	ENSG00000071243	ENST00000315870;ENST00000339121;ENST00000445699;ENST00000431467	D;D	0.95518	-3.7;-3.73	5.54	5.54	0.83059	Inhibitor of growth protein, N-terminal (1);	0.059163	0.64402	D	0.000001	D	0.96765	0.8944	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.975;0.988;0.999;0.999	D;P;P;D;D	0.67900	0.911;0.739;0.811;0.912;0.954	D	0.95906	0.8919	10	0.38643	T	0.18	-21.6296	10.2439	0.43330	0.852:0.0:0.0:0.148	.	70;70;70;70;70	B7ZKQ7;Q5GRH6;Q9NXR8;Q9NXR8-2;C9JUT0	.;.;ING3_HUMAN;.;.	C	70;70;70;55	ENSP00000320566:Y70C;ENSP00000388506:Y55C	ENSP00000320566:Y70C	Y	+	2	0	ING3	120382856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.966000	0.76073	2.230000	0.72887	0.528000	0.53228	TAT		0.303	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		G	120595620	A	G	120595620	3	3	650	1	0	0	0	0	1	0	0	0	7739	449	16	3	223	3	ING3	7	120595620	Missense_Mutation	SNP	A	TCGA-G7-6796-01A-11D-1961-08	54185412	120595620	38543043	24	35335											
HIPK2	28996	hgsc.bcm.edu	37	7	139416356	139416356	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr7:139416356C>A	ENST00000406875.3	-	2	572	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	HIPK2_ENST00000428878.2_Missense_Mutation_p.G160W|HIPK2_ENST00000342645.6_Missense_Mutation_p.G160W	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	160	Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ACAGTGGCCCCGCTTGCATTA	0.557																																																0													139	121	126					7																	139416356		1568	3582	5150	SO:0001583	missense	28996			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.478G>T	chr7.hg19:g.139416356C>A	ENSP00000385571:p.Gly160Trp		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	hg19		.	.	.	.	.	.	.	.	.	.	C	15.42	2.827150	0.50739	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.55413	0.52;0.55;0.55	5.41	4.53	0.55603	.	.	.	.	.	T	0.73164	0.3552	.	.	.	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.987	T	0.77707	-0.2487	8	0.87932	D	0	.	14.152	0.65392	0.0:0.9279:0.0:0.0721	.	160;160	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	W	160	ENSP00000385571:G160W;ENSP00000413724:G160W;ENSP00000343108:G160W	ENSP00000343108:G160W	G	-	1	0	HIPK2	139062842	1.000000	0.71417	0.935000	0.37517	0.365000	0.29674	7.677000	0.84024	1.277000	0.44412	-0.140000	0.14226	GGG		0.557	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		A	139416356	C	A	139416356	3	1	650	1	0	0	0	0	1	0	0	0	7119	652	23	4	3174	4	HIPK2	7	139416356	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08	18820736	139416356	19722307	25	35336											
MCPH1	79648	hgsc.bcm.edu	37	8	6302006	6302006	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr8:6302006A>T	ENST00000344683.5	+	8	839	c.763A>T	c.(763-765)Att>Ttt	p.I255F	MCPH1_ENST00000522905.1_Missense_Mutation_p.I207F|MCPH1_ENST00000519480.1_Missense_Mutation_p.I255F	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	255					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGAAGGATCCATTAATGACAT	0.358																																					Colon(95;1448 1467 8277 34473 35819)											0													129	122	124					8																	6302006		1883	4107	5990	SO:0001583	missense	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.763A>T	chr8.hg19:g.6302006A>T	ENSP00000342924:p.Ile255Phe		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	hg19	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.579572	0.86645	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.13778	2.56;2.56;2.56	5.26	-7.74	0.01241	.	1.774350	0.02525	N	0.092983	T	0.17492	0.0420	L	0.53249	1.67	0.09310	N	1	P;P;P	0.46784	0.884;0.867;0.884	P;P;P	0.52267	0.522;0.694;0.522	T	0.40289	-0.9571	10	0.32370	T	0.25	0.0924	3.4052	0.07338	0.3624:0.1106:0.4182:0.1088	.	207;255;255	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	F	255;255;207	ENSP00000342924:I255F;ENSP00000430962:I255F;ENSP00000430768:I207F	ENSP00000342924:I255F	I	+	1	0	MCPH1	6289414	0.000000	0.05858	0.000000	0.03702	0.857000	0.48899	-0.113000	0.10774	-1.605000	0.01593	0.533000	0.62120	ATT		0.358	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		T	6302006	A	T	6302006	3	4	650	1	0	0	0	0	1	0	0	0	9400	217	8	5	793	5	MCPH1	8	6302006	Missense_Mutation	SNP	A	TCGA-G7-6796-01A-11D-1961-08		6302006	140062016	26	35337											
IKBKB	3551	hgsc.bcm.edu	37	8	42173753	42173753	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr8:42173753T>A	ENST00000520810.1	+	10	1012	c.826T>A	c.(826-828)Tgg>Agg	p.W276R	IKBKB_ENST00000379708.3_Missense_Mutation_p.W53R|IKBKB_ENST00000416505.2_Missense_Mutation_p.W217R|IKBKB_ENST00000520835.1_Missense_Mutation_p.W274R|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ACTGGAGAAGTGGCTGCAACT	0.562																																																0													66	58	61					8																	42173753		2203	4300	6503	SO:0001583	missense	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.826T>A	chr8.hg19:g.42173753T>A	ENSP00000430684:p.Trp276Arg		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	hg19	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617138	0.87359	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.64803	-0.12;-0.12;-0.12;1.78	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057892	0.85682	D	0.000000	T	0.78780	0.4337	M	0.75264	2.295	0.80722	D	1	P;D;P;D;D;D	0.89917	0.879;0.998;0.836;0.999;0.995;1.0	P;D;B;D;D;D	0.97110	0.745;0.987;0.425;0.987;0.988;1.0	T	0.81621	-0.0850	10	0.72032	D	0.01	.	15.1947	0.73078	0.0:0.0:0.0:1.0	.	217;274;53;227;276;276	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	R	276;217;274;53	ENSP00000430684:W276R;ENSP00000404920:W217R;ENSP00000430868:W274R;ENSP00000369030:W53R	ENSP00000369030:W53R	W	+	1	0	IKBKB	42292910	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.228000	0.72288	1.994000	0.58287	0.460000	0.39030	TGG		0.562	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			A	42173753	T	A	42173753	3	1	650	1	0	0	0	0	1	0	0	0	7613	1696	59	5	860	5	IKBKB	8	42173753	Missense_Mutation	SNP	T	TCGA-G7-6796-01A-11D-1961-08	35871747	42173753	104190269	27	35338											
CYP7A1	1581	hgsc.bcm.edu	37	8	59409487	59409487	+	Missense_Mutation	SNP	C	C	A	rs201046553		TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr8:59409487C>A	ENST00000301645.3	-	3	721	c.584G>T	c.(583-585)cGg>cTg	p.R195L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	195					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R195L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTGTGTGTCCCGCCTTGTAAG	0.458									Neonatal Giant Cell Hepatitis																																							1	Substitution - Missense(1)	lung(1)											136	129	131					8																	59409487		2203	4300	6503	SO:0001583	missense	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.584G>T	chr8.hg19:g.59409487C>A	ENSP00000301645:p.Arg195Leu		P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	hg19	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	c	7.189	0.591159	0.13812	.	.	ENSG00000167910	ENST00000301645	T	0.63913	-0.07	5.74	-2.23	0.06930	.	0.519770	0.23353	N	0.049112	T	0.31513	0.0799	N	0.08118	0	0.25011	N	0.991403	B	0.11235	0.004	B	0.14578	0.011	T	0.29941	-0.9995	10	0.08381	T	0.77	-0.7265	9.3325	0.38030	0.0:0.1223:0.4845:0.3932	.	195	P22680	CP7A1_HUMAN	L	195	ENSP00000301645:R195L	ENSP00000301645:R195L	R	-	2	0	CYP7A1	59572041	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	1.764000	0.38471	-0.158000	0.11040	-0.414000	0.06135	CGG		0.458	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		A	59409487	C	A	59409487	3	1	650	1	0	0	0	0	1	0	0	0	4198	652	23	4	946	4	CYP7A1	8	59409487	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08	17235734	59409487	86954535	28	35339											
FBXL6	26233	hgsc.bcm.edu	37	8	145579793	145579793	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr8:145579793T>C	ENST00000331890.5	-	8	1371	c.1307A>G	c.(1306-1308)cAg>cGg	p.Q436R	FBXL6_ENST00000526524.1_Intron|SLC52A2_ENST00000530047.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.Q430R|SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	436					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCACCACTTCTGGGTCAAAAA	0.592																																																0													70	77	74					8																	145579793		2203	4299	6502	SO:0001583	missense	26233			AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1307A>G	chr8.hg19:g.145579793T>C	ENSP00000330098:p.Gln436Arg		Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	hg19	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292836	0.23564	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.24538	1.85;1.85	5.13	1.23	0.21249	.	0.612082	0.16879	N	0.195799	T	0.14141	0.0342	L	0.31207	0.915	0.22803	N	0.998711	B;B	0.14438	0.006;0.01	B;B	0.11329	0.003;0.006	T	0.32955	-0.9887	10	0.12766	T	0.61	-2.0714	6.0415	0.19736	0.0:0.403:0.0:0.597	.	436;430	Q8N531;Q8N531-2	FBXL6_HUMAN;.	R	430;436	ENSP00000403873:Q430R;ENSP00000330098:Q436R	ENSP00000330098:Q436R	Q	-	2	0	FBXL6	145550601	0.622000	0.27085	0.991000	0.47740	0.810000	0.45777	0.327000	0.19663	0.240000	0.21263	0.460000	0.39030	CAG		0.592	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		C	145579793	T	C	145579793	3	2	650	1	0	0	0	0	1	0	0	0	5725	1580	55	3	320	3	FBXL6	8	145579793	Missense_Mutation	SNP	T	TCGA-G7-6796-01A-11D-1961-08	86170306	145579793	784229	29	35340											
KIN	22944	hgsc.bcm.edu	37	10	7825098	7825098	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr10:7825098C>G	ENST00000379562.4	-	2	202	c.155G>C	c.(154-156)aGa>aCa	p.R52T	KIN_ENST00000543003.1_Intron|KIN_ENST00000535925.1_Missense_Mutation_p.R52T	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CAATAGTTGTCTCTGATGAGA	0.328																																																0													61	60	60					10																	7825098		2203	4298	6501	SO:0001583	missense	22944			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"antigenic determinant of recA protein (mouse) homolog", "KIN, antigenic determinant of recA protein homolog (mouse)"			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.155G>C	chr10.hg19:g.7825098C>G	ENSP00000368881:p.Arg52Thr			Missense_Mutation	SNP	ENST00000379562.4	hg19	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266664	0.80358	.	.	ENSG00000151657	ENST00000535925;ENST00000379562	.	.	.	6.06	4.18	0.49190	DNA/RNA-binding protein Kin17, conserved domain (1);	0.132739	0.64402	D	0.000002	T	0.81331	0.4800	H	0.95114	3.625	0.80722	D	1	B;B	0.22146	0.065;0.065	B;B	0.35470	0.203;0.203	T	0.80384	-0.1405	9	0.87932	D	0	-35.5448	10.9911	0.47549	0.13:0.8027:0.0:0.0672	.	52;52	B4DX32;O60870	.;KIN17_HUMAN	T	52	.	ENSP00000368881:R52T	R	-	2	0	KIN	7865104	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.693000	0.84214	0.846000	0.35142	0.650000	0.86243	AGA		0.328	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		G	7825098	C	G	7825098	3	3	650	1	0	0	0	0	1	0	0	0	8317	913	32	4	1074	4	KIN	10	7825098	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08		7825098	127709649	30	35341											
PLCE1	51196	hgsc.bcm.edu	37	10	95849076	95849076	+	Intron	SNP	A	A	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr10:95849076A>G	ENST00000371380.3	+	2	1441				PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Silent_p.V75V|PLCE1_ENST00000371375.1_Silent_p.V75V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCTCTGAGGTACCCAATTTTA	0.502																																																0													142	126	131					10																	95849076		1568	3582	5150	SO:0001627	intron_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-42855A>G	chr10.hg19:g.95849076A>G			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	hg19	CCDS41552.1																																																																																				0.502	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		G	95849076	A	G	95849076	1	3	650	0	1	0	0	0	0	0	0	0	12036	378	14	3		3	PLCE1	10	95849076	Intron	SNP	A	TCGA-G7-6796-01A-11D-1961-08	88023978	95849076	39685671	31	35342											
BEST1	7439	hgsc.bcm.edu	37	11	61730354	61730354	+	Silent	SNP	C	C	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr11:61730354C>T	ENST00000378043.4	+	10	2371	c.1728C>T	c.(1726-1728)gcC>gcT	p.A576A	FTH1_ENST00000529191.1_Intron|BEST1_ENST00000378042.3_Silent_p.A489A|BEST1_ENST00000449131.2_Silent_p.A516A|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000301774.9_Silent_p.A204A	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	576					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTTATTGGGCCTTGGAAAACA	0.507																																																0													120	130	126					11																	61730354		2202	4299	6501	SO:0001819	synonymous_variant	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1728C>T	chr11.hg19:g.61730354C>T			A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	hg19	CCDS31580.1																																																																																				0.507	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		T	61730354	C	T	61730354	2	4	650	1	0	0	0	0	0	0	0	1	1404	668	24	2		2	BEST1	11	61730354	Silent	SNP	C	TCGA-G7-6796-01A-11D-1961-08		61730354	73276162	32	35343											
PARP11	57097	hgsc.bcm.edu	37	12	3921402	3921402	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:3921402C>A	ENST00000228820.4	-	8	1048	c.904G>T	c.(904-906)Ggg>Tgg	p.G302W	PARP11_ENST00000476985.1_Intron|PARP11_ENST00000447133.3_Missense_Mutation_p.G221W|PARP11_ENST00000397096.2_Intron|PARP11_ENST00000427057.2_Missense_Mutation_p.G221W	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	295	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			ACATAGCTCCCGTCTTTGGAA	0.398																																																0													119	103	109					12																	3921402		2203	4300	6503	SO:0001583	missense	57097			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"Poly (ADP-ribose) polymerases"	1186	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 6"	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.904G>T	chr12.hg19:g.3921402C>A	ENSP00000228820:p.Gly302Trp		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	hg19	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571674	0.65765	.	.	ENSG00000111224	ENST00000427057;ENST00000228820;ENST00000447133	T;T;T	0.14391	2.51;2.51;2.51	5.28	5.28	0.74379	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.106561	0.64402	D	0.000004	T	0.40932	0.1137	M	0.81497	2.545	0.44985	D	0.998009	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.989;0.994	T	0.28267	-1.0049	10	0.87932	D	0	.	16.4627	0.84069	0.0:1.0:0.0:0.0	.	221;302;295	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	W	221;302;221	ENSP00000397058:G221W;ENSP00000228820:G302W;ENSP00000405385:G221W	ENSP00000228820:G302W	G	-	1	0	PARP11	3791663	0.987000	0.35691	1.000000	0.80357	0.999000	0.98932	2.777000	0.47717	2.747000	0.94245	0.650000	0.86243	GGG		0.398	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			A	3921402	C	A	3921402	3	1	650	1	0	0	0	0	1	0	0	0	11458	652	23	4	116	4	PARP11	12	3921402	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08		3921402	129930493	33	35344											
ABCC9	10060	hgsc.bcm.edu	37	12	21962862	21962862	+	Silent	SNP	G	G	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:21962862G>A	ENST00000261201.4	-	35	4238	c.4239C>T	c.(4237-4239)tgC>tgT	p.C1413C	ABCC9_ENST00000345162.2_Silent_p.C1377C|ABCC9_ENST00000261200.4_Silent_p.C1413C	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1413	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TGTCATCTGTGCATTTGCACT	0.323																																																0													83	85	84					12																	21962862		2203	4300	6503	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4239C>T	chr12.hg19:g.21962862G>A			O60707	Silent	SNP	ENST00000261201.4	hg19	CCDS8694.1																																																																																				0.323	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		A	21962862	G	A	21962862	2	1	650	1	0	0	0	0	0	0	0	1	59	1311	46	2		2	ABCC9	12	21962862	Silent	SNP	G	TCGA-G7-6796-01A-11D-1961-08	18041460	21962862	111889033	34	35345											
KIAA0528	9847	hgsc.bcm.edu	37	12	22666235	22666235	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:22666235T>C	ENST00000333957.4	-	9	1286	c.1031A>G	c.(1030-1032)gAa>gGa	p.E344G	C2CD5_ENST00000446597.1_Missense_Mutation_p.E344G|C2CD5_ENST00000396028.2_Missense_Mutation_p.E335G|C2CD5_ENST00000542676.1_Missense_Mutation_p.E344G|C2CD5_ENST00000545552.1_Missense_Mutation_p.E335G|C2CD5_ENST00000536386.1_Missense_Mutation_p.E335G|C2CD5_ENST00000544930.1_Missense_Mutation_p.E137G	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	344					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TACCCTCTGTTCCAACGCTGA	0.378																																																0													149	131	137					12																	22666235		2203	4300	6503	SO:0001583	missense	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1031A>G	chr12.hg19:g.22666235T>C	ENSP00000334229:p.Glu344Gly		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	hg19	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.824771	0.71143	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930;ENST00000544281	T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.0	3.85	0.44370	.	0.062767	0.64402	N	0.000006	T	0.65144	0.2663	L	0.57536	1.79	0.49915	D	0.999836	D;D;D;D;D;D	0.89917	0.999;0.992;1.0;0.992;1.0;0.979	D;P;D;P;D;P	0.85130	0.973;0.784;0.996;0.864;0.997;0.628	T	0.64045	-0.6499	10	0.51188	T	0.08	-22.0629	9.2812	0.37729	0.0:0.0816:0.0:0.9184	.	335;344;137;335;335;344	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	G	344;344;335;335;344;335;137;96	ENSP00000334229:E344G;ENSP00000388756:E344G;ENSP00000439392:E335G;ENSP00000379345:E335G;ENSP00000441951:E344G;ENSP00000443204:E335G;ENSP00000445288:E137G;ENSP00000443479:E96G	ENSP00000334229:E344G	E	-	2	0	KIAA0528	22557502	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	7.272000	0.78516	0.920000	0.36970	0.528000	0.53228	GAA		0.378	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		C	22666235	T	C	22666235	3	2	650	1	0	0	0	0	1	0	0	0	8184	1783	62	3	2039	3	KIAA0528	12	22666235	Missense_Mutation	SNP	T	TCGA-G7-6796-01A-11D-1961-08	703373	22666235	111185660	35	35346											
CAPRIN2	65981	hgsc.bcm.edu	37	12	30886574	30886574	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:30886574A>G	ENST00000395805.2	-	5	1428	c.881T>C	c.(880-882)gTa>gCa	p.V294A	CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000308433.5_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.V294A|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.V294A|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.V294A	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGTCGTTCCTACCACTGCTTT	0.398																																																0													164	143	150					12																	30886574		2203	4300	6503	SO:0001583	missense	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.881T>C	chr12.hg19:g.30886574A>G	ENSP00000379150:p.Val294Ala			Missense_Mutation	SNP	ENST00000395805.2	hg19	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.850529	0.32699	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T	0.21031	2.47;2.03;2.03;2.03;2.03;2.03	4.96	4.96	0.65561	.	0.276479	0.34460	N	0.003948	T	0.09730	0.0239	N	0.11201	0.11	0.80722	D	1	B;B;B;B;B	0.28783	0.142;0.222;0.029;0.049;0.013	B;B;B;B;B	0.28011	0.043;0.085;0.006;0.013;0.008	T	0.24977	-1.0145	10	0.15066	T	0.55	-12.678	7.5105	0.27571	0.8402:0.0:0.1598:0.0	.	294;294;294;294;294	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	A	40;294;294;294;294;20;213	ENSP00000415407:V40A;ENSP00000298892:V294A;ENSP00000379150:V294A;ENSP00000251071:V294A;ENSP00000391479:V294A;ENSP00000438010:V213A	ENSP00000251071:V294A	V	-	2	0	CAPRIN2	30777841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.311000	0.51919	2.069000	0.61940	0.533000	0.62120	GTA		0.398	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		G	30886574	A	G	30886574	3	3	650	1	0	0	0	0	1	0	0	0	2638	391	14	3	2558	3	CAPRIN2	12	30886574	Missense_Mutation	SNP	A	TCGA-G7-6796-01A-11D-1961-08	8220339	30886574	102965321	36	35347											
ARID2	196528	hgsc.bcm.edu	37	12	46246367	46246367	+	Silent	SNP	C	C	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:46246367C>A	ENST00000334344.6	+	15	4633	c.4461C>A	c.(4459-4461)ccC>ccA	p.P1487P	ARID2_ENST00000444670.1_Silent_p.P1097P|ARID2_ENST00000422737.1_Silent_p.P1338P|ARID2_ENST00000457135.1_Silent_p.P95P|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1487					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TAGCAGTTCCCGACTCAGGAT	0.463			"N, S, F"		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													113	107	109					12																	46246367		2203	4300	6503	SO:0001819	synonymous_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4461C>A	chr12.hg19:g.46246367C>A			Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	hg19	CCDS31783.1																																																																																				0.463	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		A	46246367	C	A	46246367	2	1	650	1	0	0	0	0	0	0	0	1	915	639	23	4		4	ARID2	12	46246367	Silent	SNP	C	TCGA-G7-6796-01A-11D-1961-08	15359793	46246367	87605528	37	35348											
KRT85	3891	hgsc.bcm.edu	37	12	52761009	52761009	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:52761009A>G	ENST00000257901.3	-	1	256	c.181T>C	c.(181-183)Tcc>Ccc	p.S61P	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	61	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCCCGCAGGAGCCCAGGTTG	0.716																																																0													18	23	21					12																	52761009		2197	4295	6492	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.181T>C	chr12.hg19:g.52761009A>G	ENSP00000257901:p.Ser61Pro		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	hg19	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	A	5.873	0.345197	0.11126	.	.	ENSG00000135443	ENST00000257901	T	0.77877	-1.13	4.66	-2.96	0.05547	.	0.601870	0.15091	N	0.281064	T	0.51261	0.1664	N	0.12182	0.205	0.23563	N	0.997407	B	0.06786	0.001	B	0.10450	0.005	T	0.29488	-1.0010	10	0.40728	T	0.16	.	2.3992	0.04397	0.2911:0.4181:0.1687:0.1221	.	61	P78386	KRT85_HUMAN	P	61	ENSP00000257901:S61P	ENSP00000257901:S61P	S	-	1	0	KRT85	51047276	0.000000	0.05858	0.660000	0.29694	0.354000	0.29330	-0.238000	0.08977	-0.599000	0.05798	-0.366000	0.07423	TCC		0.716	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		G	52761009	A	G	52761009	3	3	650	1	0	0	0	0	1	0	0	0	8501	304	11	3	1378	3	KRT85	12	52761009	Missense_Mutation	SNP	A	TCGA-G7-6796-01A-11D-1961-08	6514642	52761009	81090886	38	35349											
SYCP3	50511	hgsc.bcm.edu	37	12	102127436	102127436	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr12:102127436C>G	ENST00000392927.3	-	6	501	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	SYCP3_ENST00000266743.2_Missense_Mutation_p.E124Q|SYCP3_ENST00000392924.1_Missense_Mutation_p.E124Q	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	124	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TGAGAATATTCTTGGTTAAGC	0.308																																																0													110	102	105					12																	102127436		2203	4300	6503	SO:0001583	missense	50511			AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.370G>C	chr12.hg19:g.102127436C>G	ENSP00000376658:p.Glu124Gln			Missense_Mutation	SNP	ENST00000392927.3	hg19	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197243	0.38806	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.95	5.01	0.66863	.	0.115967	0.64402	D	0.000019	T	0.72078	0.3416	M	0.67953	2.075	0.44247	D	0.997095	D	0.54397	0.966	P	0.56343	0.796	T	0.69698	-0.5075	9	0.34782	T	0.22	1.5322	15.6276	0.76874	0.1381:0.8619:0.0:0.0	.	124	Q8IZU3	SYCP3_HUMAN	Q	124	.	ENSP00000266743:E124Q	E	-	1	0	SYCP3	100651567	1.000000	0.71417	0.797000	0.32132	0.043000	0.13939	4.291000	0.59025	2.817000	0.96982	0.563000	0.77884	GAA		0.308	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		G	102127436	C	G	102127436	3	3	650	1	0	0	0	0	1	0	0	0	15439	922	32	4	356	4	SYCP3	12	102127436	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08	49366427	102127436	31724459	39	35350											
USPL1	10208	hgsc.bcm.edu	37	13	31233386	31233386	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr13:31233386A>C	ENST00000255304.4	+	9	3514	c.3172A>C	c.(3172-3174)Aag>Cag	p.K1058Q		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1058					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAGTCCGATGAAGACTGATAT	0.373																																					Ovarian(60;318 1180 1554 28110 31601)											0													93	94	93					13																	31233386		2202	4300	6502	SO:0001583	missense	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.3172A>C	chr13.hg19:g.31233386A>C	ENSP00000255304:p.Lys1058Gln		Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	hg19	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675070	0.67928	.	.	ENSG00000132952	ENST00000255304	T	0.26518	1.73	5.62	5.62	0.85841	.	0.083251	0.51477	D	0.000089	T	0.46870	0.1415	M	0.64997	1.995	0.25803	N	0.984481	D	0.67145	0.996	D	0.66497	0.944	T	0.43589	-0.9382	10	0.72032	D	0.01	-19.9681	14.3888	0.66963	1.0:0.0:0.0:0.0	.	1058	Q5W0Q7	USPL1_HUMAN	Q	1058	ENSP00000255304:K1058Q	ENSP00000255304:K1058Q	K	+	1	0	USPL1	30131386	0.983000	0.35010	0.930000	0.37139	0.675000	0.39556	4.229000	0.58625	2.143000	0.66587	0.455000	0.32223	AAG		0.373	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		C	31233386	A	C	31233386	3	2	650	1	0	0	0	0	1	0	0	0	17097	247	9	5	3202	5	USPL1	13	31233386	Missense_Mutation	SNP	A	TCGA-G7-6796-01A-11D-1961-08		31233386	83936492	40	35351											
ITM2B	9445	hgsc.bcm.edu	37	13	48833064	48833064	+	Silent	SNP	A	A	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr13:48833064A>G	ENST00000378565.5	+	5	899	c.696A>G	c.(694-696)caA>caG	p.Q232Q	ITM2B_ENST00000378549.5_Silent_p.Q126Q	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	232					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		ACAAACTGCAACGCAGAGAAA	0.338																																																0													85	78	81					13																	48833064		2203	4300	6503	SO:0001819	synonymous_variant	9445			AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"BRICHOS domain containing"	6174	protein-coding gene	gene with protein product	"BRICHOS domain containing 2B"	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.696A>G	chr13.hg19:g.48833064A>G			Q5W0A3|Q96B24|Q9NYH1	Silent	SNP	ENST00000378565.5	hg19	CCDS9409.1																																																																																				0.338	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999		G	48833064	A	G	48833064	2	3	650	1	0	0	0	0	0	0	0	1	7915	40	2	3		3	ITM2B	13	48833064	Silent	SNP	A	TCGA-G7-6796-01A-11D-1961-08	17599678	48833064	66336814	41	35352											
BTBD7	55727	hgsc.bcm.edu	37	14	93708871	93708871	+	Silent	SNP	G	G	T	rs145129249	byFrequency	TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr14:93708871G>T	ENST00000334746.5	-	11	3454	c.3147C>A	c.(3145-3147)acC>acA	p.T1049T	BTBD7_ENST00000393170.2_Silent_p.T623T|BTBD7_ENST00000554565.1_Silent_p.T698T	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1049					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GGGCTGGACCGGTACTAGCAT	0.507																																																0													109	117	114					14																	93708871		2203	4300	6503	SO:0001819	synonymous_variant	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.3147C>A	chr14.hg19:g.93708871G>T			A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	hg19	CCDS32146.1																																																																																				0.507	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		T	93708871	G	T	93708871	2	4	650	1	0	0	0	0	0	0	0	1	1548	1103	39	4		4	BTBD7	14	93708871	Silent	SNP	G	TCGA-G7-6796-01A-11D-1961-08		93708871	13640669	42	35353											
EDC4	23644	hgsc.bcm.edu	37	16	67910484	67910484	+	Silent	SNP	G	G	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr16:67910484G>A	ENST00000358933.5	+	3	572	c.333G>A	c.(331-333)aaG>aaA	p.K111K	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	111					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTTCAAGCAAGGCCCGGGGAA	0.537																																																0													76	65	69					16																	67910484		2198	4300	6498	SO:0001819	synonymous_variant	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.333G>A	chr16.hg19:g.67910484G>A			A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	hg19	CCDS10849.1																																																																																				0.537	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		A	67910484	G	A	67910484	2	1	650	1	0	0	0	0	0	0	0	1	4910	991	35	2		2	EDC4	16	67910484	Silent	SNP	G	TCGA-G7-6796-01A-11D-1961-08		67910484	22444269	43	35354											
GAN	8139	hgsc.bcm.edu	37	16	81388211	81388211	+	Silent	SNP	C	C	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr16:81388211C>A	ENST00000568107.2	+	3	646	c.484C>A	c.(484-486)Cga>Aga	p.R162R		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	162	BACK.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GACTCATTTCCGAGACGTCAG	0.428																																					GBM(106;1239 1507 7582 9741 33976)											0													161	146	151					16																	81388211		2202	4300	6502	SO:0001819	synonymous_variant	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.484C>A	chr16.hg19:g.81388211C>A				Silent	SNP	ENST00000568107.2	hg19	CCDS10935.1																																																																																				0.428	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			A	81388211	C	A	81388211	2	1	650	1	0	0	0	0	0	0	0	1	6234	644	23	4		4	GAN	16	81388211	Silent	SNP	C	TCGA-G7-6796-01A-11D-1961-08	13477727	81388211	8966542	44	35355											
TEKT1	83659	hgsc.bcm.edu	37	17	6718552	6718553	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:6718552_6718553insA	ENST00000338694.2	-	5	687_688	c.558_559insT	c.(556-561)gatatcfs	p.I187fs	TEKT1_ENST00000535086.1_Frame_Shift_Ins_p.I41fs	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	187						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GAGAAGCAGATATCATCTATGG	0.48																																																0																																										SO:0001589	frameshift_variant	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.559dupT	chr17.hg19:g.6718553_6718553dupA	ENSP00000341346:p.Ile187fs		D3DTM7	Frame_Shift_Ins	INS	ENST00000338694.2	hg19	CCDS11083.1																																																																																				0.48	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		A	6718553	-	A	6718552	7	5	650	1	0	1	1	0	0	0	0	0	15757	1406	49	0	713	0	TEKT1	17	6718552	Frame_Shift_Ins	INS	-	TCGA-G7-6796-01A-11D-1961-08		6718552	74476658	45	35356											
GLP2R	9340	hgsc.bcm.edu	37	17	9764494	9764494	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:9764494C>A	ENST00000262441.5	+	8	1477	c.964C>A	c.(964-966)Cgt>Agt	p.R322S	GLP2R_ENST00000574745.1_Missense_Mutation_p.R142S	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	322					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GGGTTTCGCCCGTGCACACCT	0.493																																																0													198	180	186					17																	9764494		2203	4300	6503	SO:0001583	missense	9340			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.964C>A	chr17.hg19:g.9764494C>A	ENSP00000262441:p.Arg322Ser		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	hg19	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	8.206	0.799227	0.16397	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.46451	0.87	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.40222	N	0.001141	T	0.65512	0.2698	M	0.86178	2.8	0.09310	N	1	D	0.69078	0.997	D	0.74348	0.983	T	0.61917	-0.6964	10	0.87932	D	0	.	11.1891	0.48675	0.2849:0.7151:0.0:0.0	.	322	O95838	GLP2R_HUMAN	S	322;297;322	ENSP00000262441:R322S	ENSP00000262441:R322S	R	+	1	0	GLP2R	9705219	0.948000	0.32251	0.788000	0.31933	0.475000	0.33008	2.876000	0.48498	2.706000	0.92434	0.655000	0.94253	CGT		0.493	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			A	9764494	C	A	9764494	3	1	650	1	0	0	0	0	1	0	0	0	6455	652	23	4	994	4	GLP2R	17	9764494	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08	3045942	9764494	71430716	46	35357											
BRCA1	672	hgsc.bcm.edu	37	17	41244817	41244817	+	Missense_Mutation	SNP	C	C	T	rs80357712|rs397509003|rs80357605|rs80357917		TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:41244817C>T	ENST00000357654.3	-	10	2849	c.2731G>A	c.(2731-2733)Gga>Aga	p.G911R	BRCA1_ENST00000493795.1_Missense_Mutation_p.G864R|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.G911R|BRCA1_ENST00000346315.3_Missense_Mutation_p.G911R|BRCA1_ENST00000309486.4_Missense_Mutation_p.G615R|BRCA1_ENST00000354071.3_Missense_Mutation_p.G911R	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	911					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCATTCTTTCCTTGATTTTCT	0.398			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													132	130	131					17																	41244817		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2731G>A	chr17.hg19:g.41244817C>T	ENSP00000350283:p.Gly911Arg		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	hg19	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977264	0.34848	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	4.85	2.8	0.32819	.	0.776431	0.11349	N	0.573162	D	0.84188	0.5417	M	0.65320	2	0.09310	N	1	B;B;B;B;D;B	0.59357	0.024;0.065;0.132;0.12;0.985;0.036	B;B;B;B;P;B	0.57371	0.046;0.046;0.261;0.22;0.819;0.043	T	0.71461	-0.4586	10	0.56958	D	0.05	.	8.2084	0.31469	0.0:0.7274:0.0:0.2726	.	911;870;911;911;911;911	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	R	911;911;911;911;615;911;864	ENSP00000350283:G911R;ENSP00000326002:G911R;ENSP00000246907:G911R;ENSP00000310938:G615R;ENSP00000418960:G911R;ENSP00000418775:G864R	ENSP00000310938:G615R	G	-	1	0	BRCA1	38498343	0.001000	0.12720	0.001000	0.08648	0.134000	0.20937	0.961000	0.29267	0.582000	0.29556	0.484000	0.47621	GGA		0.398	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		T	41244817	C	T	41244817	3	4	650	1	0	0	0	0	1	0	0	0	1500	690	24	2	2986	2	BRCA1	17	41244817	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08	31480323	41244817	39950393	47	35358											
ABCC3	8714	hgsc.bcm.edu	37	17	48735832	48735832	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:48735832C>A	ENST00000285238.8	+	6	729	c.649C>A	c.(649-651)Cgc>Agc	p.R217S	ABCC3_ENST00000427699.1_Missense_Mutation_p.R217S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	217					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.L215_F219delLSRLF(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CTTTCTCTCCCGCCTGTTTTT	0.582																																																1	Deletion - In frame(1)	prostate(1)											128	118	121					17																	48735832		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.649C>A	chr17.hg19:g.48735832C>A	ENSP00000285238:p.Arg217Ser		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	hg19	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037328	0.75617	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.93019	-3.15;-3.15	5.92	4.96	0.65561	.	0.158362	0.42964	D	0.000632	D	0.94288	0.8165	M	0.77103	2.36	0.49483	D	0.999793	P;P	0.46987	0.866;0.888	B;P	0.53549	0.353;0.729	D	0.92427	0.5950	10	0.29301	T	0.29	-14.056	8.5005	0.33154	0.2579:0.6706:0.0:0.0715	.	217;217	O15438;O15438-5	MRP3_HUMAN;.	S	217	ENSP00000395160:R217S;ENSP00000285238:R217S	ENSP00000285238:R217S	R	+	1	0	ABCC3	46090831	0.028000	0.19301	1.000000	0.80357	0.985000	0.73830	1.110000	0.31147	1.515000	0.48885	0.561000	0.74099	CGC		0.582	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		A	48735832	C	A	48735832	3	1	650	1	0	0	0	0	1	0	0	0	54	652	23	4	671	4	ABCC3	17	48735832	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08	7491015	48735832	32459378	48	35359											
MSI2	124540	hgsc.bcm.edu	37	17	55754379	55754379	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:55754379G>A	ENST00000284073.2	+	13	1186	c.977G>A	c.(976-978)gGa>gAa	p.G326E	MSI2_ENST00000442934.2_Missense_Mutation_p.G265E|MSI2_ENST00000416426.2_Missense_Mutation_p.G322E	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	326						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TTTACAAATGGATACCATTGA	0.458			T	HOXA9	CML																																		Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	0													234	195	208					17																	55754379		2203	4300	6503	SO:0001583	missense	124540			BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	18585	protein-coding gene	gene with protein product		607897	"musashi homolog 2 (Drosophila)"			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.977G>A	chr17.hg19:g.55754379G>A	ENSP00000284073:p.Gly326Glu		Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	hg19	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739690	0.89573	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000442934	D;T;T	0.89050	-2.46;0.62;1.01	4.87	4.87	0.63330	.	0.052819	0.85682	D	0.000000	D	0.93605	0.7958	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.94391	0.7614	10	0.87932	D	0	.	18.0345	0.89296	0.0:0.0:1.0:0.0	.	322;326	B4DHE8;Q96DH6	.;MSI2H_HUMAN	E	322;326;265	ENSP00000414671:G322E;ENSP00000284073:G326E;ENSP00000392607:G265E	ENSP00000284073:G326E	G	+	2	0	MSI2	53109378	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.430000	0.97488	2.260000	0.74910	0.462000	0.41574	GGA		0.458	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			A	55754379	G	A	55754379	3	1	650	1	0	0	0	0	1	0	0	0	9878	1174	41	2	1122	2	MSI2	17	55754379	Missense_Mutation	SNP	G	TCGA-G7-6796-01A-11D-1961-08	7018547	55754379	25440831	49	35360											
EXOC7	23265	hgsc.bcm.edu	37	17	74081426	74081426	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr17:74081426T>A	ENST00000335146.7	-	16	1887	c.1834A>T	c.(1834-1836)Att>Ttt	p.I612F	EXOC7_ENST00000591724.1_5'Flank|EXOC7_ENST00000411744.2_Missense_Mutation_p.I553F|EXOC7_ENST00000467929.2_Missense_Mutation_p.I533F|EXOC7_ENST00000332065.5_Missense_Mutation_p.I530F|EXOC7_ENST00000405575.4_Missense_Mutation_p.I584F|EXOC7_ENST00000607838.1_Missense_Mutation_p.I584F|EXOC7_ENST00000589210.1_Missense_Mutation_p.I561F			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	612					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGCTGCTCAATGTGCTCCCGG	0.632																																																0													57	47	50					17																	74081426		2202	4300	6502	SO:0001583	missense	23265			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1834A>T	chr17.hg19:g.74081426T>A	ENSP00000334100:p.Ile612Phe		B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	hg19	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	t	27.2	4.809754	0.90707	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	4.43	4.43	0.53597	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	M	0.78637	2.42	0.80722	D	1	B;B;P;P;D;B;P	0.58268	0.143;0.014;0.851;0.874;0.982;0.029;0.925	B;B;P;P;D;B;P	0.66497	0.109;0.109;0.635;0.731;0.944;0.043;0.803	T	0.75204	-0.3400	9	0.27082	T	0.32	-17.3693	13.7322	0.62794	0.0:0.0:0.0:1.0	.	553;584;533;498;612;530;561	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	F	530;450;584;612;561;498;553	.	ENSP00000333806:I530F	I	-	1	0	EXOC7	71593021	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	8.037000	0.88933	1.656000	0.50722	0.392000	0.25879	ATT		0.632	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		A	74081426	T	A	74081426	3	1	650	1	0	0	0	0	1	0	0	0	5312	1464	51	5	393	5	EXOC7	17	74081426	Missense_Mutation	SNP	T	TCGA-G7-6796-01A-11D-1961-08	18327047	74081426	7113784	50	35361											
APCDD1	147495	hgsc.bcm.edu	37	18	10487626	10487626	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr18:10487626C>G	ENST00000355285.5	+	5	1490	c.1136C>G	c.(1135-1137)gCc>gGc	p.A379G	APCDD1_ENST00000578882.1_Missense_Mutation_p.S175R	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GCGGCCACAGCCTCACTGCTC	0.597																																																0													75	69	71					18																	10487626		2203	4300	6503	SO:0001583	missense	147495			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1136C>G	chr18.hg19:g.10487626C>G	ENSP00000347433:p.Ala379Gly			Missense_Mutation	SNP	ENST00000355285.5	hg19	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172736	0.38413	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.18502	2.21	5.06	5.06	0.68205	.	0.162880	0.56097	D	0.000037	T	0.29288	0.0729	M	0.63843	1.955	0.29806	N	0.832069	P	0.46952	0.887	P	0.47044	0.535	T	0.12656	-1.0539	10	0.87932	D	0	-34.4277	18.7893	0.91966	0.0:1.0:0.0:0.0	.	379	Q8J025	APCD1_HUMAN	G	379;430	ENSP00000347433:A379G	ENSP00000347433:A379G	A	+	2	0	APCDD1	10477626	1.000000	0.71417	0.981000	0.43875	0.968000	0.65278	5.655000	0.67981	2.496000	0.84212	0.561000	0.74099	GCC		0.597	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		G	10487626	C	G	10487626	3	3	650	1	0	0	0	0	1	0	0	0	765	739	26	4	1154	4	APCDD1	18	10487626	Missense_Mutation	SNP	C	TCGA-G7-6796-01A-11D-1961-08		10487626	67589622	51	35362											
ST8SIA5	29906	hgsc.bcm.edu	37	18	44284579	44284579	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr18:44284579G>T	ENST00000315087.7	-	2	840	c.180C>A	c.(178-180)tgC>tgA	p.C60*	ST8SIA5_ENST00000538168.1_Nonsense_Mutation_p.C96*|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Intron	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	60					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TCAGCTCCAGGCATCTTGTGG	0.512																																																0													183	165	171					18																	44284579		2203	4300	6503	SO:0001587	stop_gained	29906			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.180C>A	chr18.hg19:g.44284579G>T	ENSP00000321343:p.Cys60*		B7Z1K9|Q6IAW7	Nonsense_Mutation	SNP	ENST00000315087.7	hg19	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	37	6.507977	0.97624	.	.	ENSG00000101638	ENST00000315087;ENST00000538168	.	.	.	4.48	1.66	0.24008	.	0.052875	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5961	0.33716	0.2644:0.0:0.7356:0.0	.	.	.	.	X	60;96	.	ENSP00000321343:C60X	C	-	3	2	ST8SIA5	42538577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.934000	0.48956	0.457000	0.26962	0.561000	0.74099	TGC		0.512	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		T	44284579	G	T	44284579	4	4	650	1	0	0	0	0	0	1	0	0	15240	1195	42	4	974	4	ST8SIA5	18	44284579	Nonsense_Mutation	SNP	G	TCGA-G7-6796-01A-11D-1961-08	33796953	44284579	33792669	52	35363											
VAV1	7409	hgsc.bcm.edu	37	19	6833546	6833546	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr19:6833546T>G	ENST00000602142.1	+	17	1700	c.1618T>G	c.(1618-1620)Ttc>Gtc	p.F540V	VAV1_ENST00000596764.1_Missense_Mutation_p.F508V|VAV1_ENST00000539284.1_Missense_Mutation_p.F443V|VAV1_ENST00000304076.2_Missense_Mutation_p.F540V|VAV1_ENST00000599806.1_Missense_Mutation_p.F485V	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	540					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGAGGTACCTTCTATCAGGG	0.542																																																0													94	96	95					19																	6833546		2203	4300	6503	SO:0001583	missense	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1618T>G	chr19.hg19:g.6833546T>G	ENSP00000472929:p.Phe540Val		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	hg19	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306485	0.60305	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.92647	-3.08;-3.08	4.73	4.73	0.59995	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.055969	0.64402	D	0.000001	D	0.92954	0.7758	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D	0.89917	0.995;0.998;1.0;0.999	D;D;D;D	0.87578	0.94;0.982;0.998;0.996	D	0.93330	0.6700	10	0.62326	D	0.03	.	12.1658	0.54129	0.0:0.0:0.0:1.0	.	443;540;485;540	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	V	540;443	ENSP00000302269:F540V;ENSP00000443242:F443V	ENSP00000302269:F540V	F	+	1	0	VAV1	6784546	1.000000	0.71417	0.998000	0.56505	0.416000	0.31233	5.489000	0.66875	1.784000	0.52394	0.402000	0.26972	TTC		0.542	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			G	6833546	T	G	6833546	3	3	650	1	0	0	0	0	1	0	0	0	17136	1609	56	5	1684	5	VAV1	19	6833546	Missense_Mutation	SNP	T	TCGA-G7-6796-01A-11D-1961-08		6833546	52295437	53	35364											
ZNF132	7691	hgsc.bcm.edu	37	19	58945194	58945194	+	Silent	SNP	T	T	A			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr19:58945194T>A	ENST00000254166.3	-	3	2017	c.1617A>T	c.(1615-1617)ggA>ggT	p.G539G	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AAGGCTTTTCTCCAGTGTGAA	0.478																																																0													81	83	82					19																	58945194		2203	4300	6503	SO:0001819	synonymous_variant	7691			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1617A>T	chr19.hg19:g.58945194T>A			Q32MI9	Silent	SNP	ENST00000254166.3	hg19	CCDS12980.1																																																																																				0.478	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		A	58945194	T	A	58945194	2	1	650	1	0	0	0	0	0	0	0	1	17727	1538	54	5		5	ZNF132	19	58945194	Silent	SNP	T	TCGA-G7-6796-01A-11D-1961-08	52111648	58945194	183789	54	35365											
SEC23B	10483	hgsc.bcm.edu	37	20	18496315	18496315	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6796-01A-11D-1961-08	TCGA-G7-6796-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d747a9f3-e148-4273-883e-8b64db6779a2	82db6745-95f5-4b86-acd4-8aeb5ec873db	g.chr20:18496315A>T	ENST00000336714.3	+	4	733	c.301A>T	c.(301-303)Ata>Tta	p.I101L	SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000262544.2_Missense_Mutation_p.I101L|SEC23B_ENST00000377475.3_Missense_Mutation_p.I101L|SEC23B_ENST00000377465.1_Missense_Mutation_p.I101L	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	101					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTATGGAGGCATATCTGAGGT	0.348																																																0													155	118	130					20																	18496315		2203	4300	6503	SO:0001583	missense	10483			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.301A>T	chr20.hg19:g.18496315A>T	ENSP00000338844:p.Ile101Leu		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	hg19	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215314	0.79352	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.04	5.04	0.67666	Zinc finger, Sec23/Sec24-type (1);	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	M	0.81112	2.525	0.80722	D	1	P;P	0.41041	0.736;0.643	P;B	0.45577	0.486;0.271	D	0.87381	0.2357	10	0.49607	T	0.09	-22.3484	14.4009	0.67044	1.0:0.0:0.0:0.0	.	101;101	B4DJW8;Q15437	.;SC23B_HUMAN	L	101	ENSP00000403971:I101L;ENSP00000338844:I101L;ENSP00000262544:I101L;ENSP00000366695:I101L;ENSP00000366685:I101L	ENSP00000262544:I101L	I	+	1	0	SEC23B	18444315	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.929000	0.92859	2.241000	0.73720	0.528000	0.53228	ATA		0.348	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			T	18496315	A	T	18496315	3	4	650	1	0	0	0	0	1	0	0	0	13998	217	8	5	311	5	SEC23B	20	18496315	Missense_Mutation	SNP	A	TCGA-G7-6796-01A-11D-1961-08		18496315	44529205	55	35366											
ZSCAN20	7579	hgsc.bcm.edu	37	1	33960785	33960785	+	Silent	SNP	C	C	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr1:33960785C>T	ENST00000361328.3	+	8	2994	c.2841C>T	c.(2839-2841)atC>atT	p.I947I		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	947					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCAAGCTCATCACACACCAGA	0.527																																																0													82	96	91					1																	33960785		2167	4282	6449	SO:0001819	synonymous_variant	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2841C>T	chr1.hg19:g.33960785C>T			A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	hg19	CCDS41300.1																																																																																				0.527	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		T	33960785	C	T	33960785	2	4	651	1	0	0	0	0	0	0	0	1	18237	816	29	2		2	ZSCAN20	1	33960785	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08		33960785	215289836	1	35367											
URB2	9816	hgsc.bcm.edu	37	1	229770863	229770863	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr1:229770863A>G	ENST00000258243.2	+	4	639	c.503A>G	c.(502-504)cAg>cGg	p.Q168R		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	168						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTGGTAGCCCAGTTGTTTGAG	0.582																																																0													68	55	59					1																	229770863		2203	4300	6503	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.503A>G	chr1.hg19:g.229770863A>G	ENSP00000258243:p.Gln168Arg		Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	hg19	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	A	9.721	1.159761	0.21454	.	.	ENSG00000135763	ENST00000258243	T	0.09817	2.94	5.68	0.193	0.15139	.	0.485156	0.24580	N	0.037302	T	0.09512	0.0234	L	0.56769	1.78	0.22226	N	0.999273	P	0.35077	0.483	B	0.30251	0.113	T	0.20571	-1.0271	9	.	.	.	-5.5473	9.3827	0.38325	0.4958:0.3913:0.0:0.1129	.	168	Q14146	URB2_HUMAN	R	168	ENSP00000258243:Q168R	.	Q	+	2	0	URB2	227837486	0.984000	0.35163	0.009000	0.14445	0.428000	0.31595	1.413000	0.34725	0.129000	0.18514	0.528000	0.53228	CAG		0.582	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		G	229770863	A	G	229770863	3	3	651	1	0	0	0	0	1	0	0	0	17030	188	7	3	513	3	URB2	1	229770863	Missense_Mutation	SNP	A	TCGA-G7-6797-01A-11D-1961-08	195810078	229770863	19479758	2	35368											
OR2T3	343173	hgsc.bcm.edu	37	1	248637423	248637423	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr1:248637423G>T	ENST00000359594.2	+	1	797	c.772G>T	c.(772-774)Ggt>Tgt	p.G258C		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTCTTCGGTGCTTCCTT	0.547																																																0													285	260	268					1																	248637423		2203	4300	6503	SO:0001583	missense	343173				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.772G>T	chr1.hg19:g.248637423G>T	ENSP00000352604:p.Gly258Cys		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	hg19	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.647301	0.29246	.	.	ENSG00000196539	ENST00000359594	T	0.38722	1.12	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.67163	0.2864	M	0.88450	2.955	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55982	-0.8054	9	0.87932	D	0	.	10.4397	0.44457	0.0:0.0:1.0:0.0	.	258	Q8NH03	OR2T3_HUMAN	C	258	ENSP00000352604:G258C	ENSP00000352604:G258C	G	+	1	0	OR2T3	246704046	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-0.435000	0.06931	1.014000	0.39417	0.186000	0.17326	GGT		0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		T	248637423	G	T	248637423	3	4	651	1	0	0	0	0	1	0	0	0	11025	1116	39	4	774	4	OR2T3	1	248637423	Missense_Mutation	SNP	G	TCGA-G7-6797-01A-11D-1961-08	18866560	248637423	613198	3	35369											
ROCK2	9475	hgsc.bcm.edu	37	2	11361482	11361482	+	Splice_Site	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr2:11361482C>A	ENST00000315872.6	-	9	1549	c.1101G>T	c.(1099-1101)acG>acT	p.T367T	ROCK2_ENST00000401753.1_Splice_Site_p.T124T	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	367	AGC-kinase C-terminal.|Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAGGAGCTGCCGCTATTAAAA	0.308																																																0													62	66	65					2																	11361482		1828	4082	5910	SO:0001630	splice_region_variant	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1100-1G>T	chr2.hg19:g.11361482C>A			Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	hg19	CCDS42654.1																																																																																				0.308	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		Silent	A	11361482	C	A	11361482	5	1	651	1	0	0	0	0	0	0	1	0	13524	666	23	4	3165	4	ROCK2	2	11361482	Splice_Site	SNP	C	TCGA-G7-6797-01A-11D-1961-08		11361482	231837891	4	35370											
APOB	338	hgsc.bcm.edu	37	2	21229324	21229324	+	Silent	SNP	G	G	T	rs558589282		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr2:21229324G>T	ENST00000233242.1	-	26	10543	c.10416C>A	c.(10414-10416)acC>acA	p.T3472T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3472	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T3472T(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTTTAGCGGTAGAGTACA	0.398																																																2	Substitution - coding silent(2)	lung(2)											102	103	102					2																	21229324		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10416C>A	chr2.hg19:g.21229324G>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	hg19	CCDS1703.1																																																																																				0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			T	21229324	G	T	21229324	2	4	651	1	0	0	0	0	0	0	0	1	785	1103	39	4		4	APOB	2	21229324	Silent	SNP	G	TCGA-G7-6797-01A-11D-1961-08	9867842	21229324	221970049	5	35371											
PSME4	23198	hgsc.bcm.edu	37	2	54147352	54147352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr2:54147352delC	ENST00000404125.1	-	19	2453	c.2398delG	c.(2398-2400)gatfs	p.D800fs	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	800					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTTTTCCATCCCCACAATGC	0.383																																																0													149	171	164					2																	54147352		2203	4300	6503	SO:0001589	frameshift_variant	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2398delG	chr2.hg19:g.54147352delC	ENSP00000384211:p.Asp800fs		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Del	DEL	ENST00000404125.1	hg19	CCDS33197.2																																																																																				0.383	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		-	54147352	C	-	54147352	7	5	651	1	0	1	0	1	0	0	0	0	12714	855	30	0	3245	0	PSME4	2	54147352	Frame_Shift_Del	DEL	C	TCGA-G7-6797-01A-11D-1961-08	32918028	54147352	189052021	6	35372											
GFPT1	2673	hgsc.bcm.edu	37	2	69553334	69553334	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr2:69553334A>T	ENST00000357308.4	-	20	2265	c.2087T>A	c.(2086-2088)gTg>gAg	p.V696E	GFPT1_ENST00000361060.5_Missense_Mutation_p.V678E	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	696					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CTCTACAGTCACAGATTTGGC	0.343																																																0													89	90	90					2																	69553334		2203	4300	6503	SO:0001583	missense	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.2087T>A	chr2.hg19:g.69553334A>T	ENSP00000349860:p.Val696Glu		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	hg19	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.559990	0.86335	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.77358	-1.09;-1.09	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.93684	0.7982	H	0.99732	4.735	0.80722	D	1	D	0.65815	0.995	D	0.85130	0.997	D	0.96269	0.9197	10	0.87932	D	0	-14.7507	14.9534	0.71091	1.0:0.0:0.0:0.0	.	678	Q06210-2	.	E	696;678	ENSP00000349860:V696E;ENSP00000354347:V678E	ENSP00000349860:V696E	V	-	2	0	GFPT1	69406838	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.082000	0.94059	2.302000	0.77476	0.533000	0.62120	GTG		0.343	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				T	69553334	A	T	69553334	3	4	651	1	0	0	0	0	1	0	0	0	6347	159	6	5	16	5	GFPT1	2	69553334	Missense_Mutation	SNP	A	TCGA-G7-6797-01A-11D-1961-08	15405982	69553334	173646039	7	35373											
NCKAP5	344148	hgsc.bcm.edu	37	2	133541732	133541732	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr2:133541732C>G	ENST00000409261.1	-	14	3025	c.2652G>C	c.(2650-2652)tgG>tgC	p.W884C	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.W884C|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	884										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGCACTGGACCCAGTCCCTCC	0.577																																																0													54	56	56					2																	133541732		1979	4160	6139	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2652G>C	chr2.hg19:g.133541732C>G	ENSP00000387128:p.Trp884Cys		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	hg19	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	11.53	1.664921	0.29604	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10860	2.83;2.83	5.1	4.18	0.49190	.	0.226096	0.22876	U	0.054566	T	0.20820	0.0501	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.70935	0.971	T	0.00448	-1.1733	10	0.48119	T	0.1	.	13.5162	0.61541	0.1547:0.8453:0.0:0.0	.	884	O14513	NCKP5_HUMAN	C	884	ENSP00000387128:W884C;ENSP00000380603:W884C	ENSP00000380603:W884C	W	-	3	0	NCKAP5	133258202	0.911000	0.30947	0.557000	0.28306	0.216000	0.24613	3.191000	0.50981	2.661000	0.90470	0.651000	0.88453	TGG		0.577	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		G	133541732	C	G	133541732	3	3	651	1	0	0	0	0	1	0	0	0	10225	624	22	4	3105	4	NCKAP5	2	133541732	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	63988398	133541732	109657641	8	35374											
ITM2C	81618	hgsc.bcm.edu	37	2	231741583	231741583	+	Silent	SNP	G	G	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr2:231741583G>C	ENST00000326427.6	+	4	588	c.462G>C	c.(460-462)gcG>gcC	p.A154A	ITM2C_ENST00000326407.6_Intron|ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000335005.6_Silent_p.A107A|ITM2C_ENST00000409704.2_Silent_p.A92A	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	154	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTCTGACTGCGTACCATGATA	0.587																																																0													147	126	133					2																	231741583		2203	4300	6503	SO:0001819	synonymous_variant	81618			AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"BRICHOS domain containing"	6175	protein-coding gene	gene with protein product	"BRICHOS domain containing 2C"	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.462G>C	chr2.hg19:g.231741583G>C			B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Silent	SNP	ENST00000326427.6	hg19	CCDS2479.1																																																																																				0.587	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		C	231741583	G	C	231741583	2	2	651	1	0	0	0	0	0	0	0	1	7916	1132	40	4		4	ITM2C	2	231741583	Silent	SNP	G	TCGA-G7-6797-01A-11D-1961-08	98199851	231741583	11457790	9	35375											
CCR2	729230	hgsc.bcm.edu	37	3	46399085	46399085	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr3:46399085T>A	ENST00000400888.2	+	1	106	c.67T>A	c.(67-69)Ttt>Att	p.F23I	CCR2_ENST00000292301.4_Missense_Mutation_p.F23I|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.F23I			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	23					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AGTCACCACCTTTTTTGATTA	0.478																																																0													195	172	179					3																	46399085		1568	3582	5150	SO:0001583	missense	729230				CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.67T>A	chr3.hg19:g.46399085T>A	ENSP00000383681:p.Phe23Ile		A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	hg19	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	T	9.930	1.214490	0.22289	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.68479	-0.33;-0.31;1.34;-0.31	4.62	-6.25	0.02039	.	6.783580	0.00397	N	0.000040	T	0.40743	0.1129	N	0.12746	0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15235	-1.0444	10	0.22109	T	0.4	.	2.8484	0.05550	0.3386:0.2093:0.3514:0.1007	.	23;23	P41597;Q4VBL2	CCR2_HUMAN;.	I	23	ENSP00000399285:F23I;ENSP00000292301:F23I;ENSP00000396736:F23I;ENSP00000383681:F23I	ENSP00000292301:F23I	F	+	1	0	CCR2	46374089	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.134000	0.15932	-0.799000	0.04439	-1.318000	0.01297	TTT		0.478	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		A	46399085	T	A	46399085	3	1	651	1	0	0	0	0	1	0	0	0	2943	1609	56	5	69	5	CCR2	3	46399085	Missense_Mutation	SNP	T	TCGA-G7-6797-01A-11D-1961-08		46399085	151623345	10	35376											
SLC26A6	65010	hgsc.bcm.edu	37	3	48668741	48668741	+	Splice_Site	SNP	T	T	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr3:48668741T>C	ENST00000395550.2	-	8	951		c.e8-2		SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000383733.3_Splice_Site|SLC26A6_ENST00000337000.8_Splice_Site|SLC26A6_ENST00000455886.2_Splice_Site|SLC26A6_ENST00000358747.6_Splice_Site|SLC26A6_ENST00000420764.2_Splice_Site			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6						angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CCCGATGAGCTGTGGGAGAGG	0.577																																					NSCLC(13;369 479 28271 30152 44026)											0													40	42	41					3																	48668741		2105	4230	6335	SO:0001630	splice_region_variant	65010			AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.904-2A>G	chr3.hg19:g.48668741T>C			B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Splice_Site	SNP	ENST00000395550.2	hg19	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878586	0.72294	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000421649	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9886	0.80183	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC26A6	48643745	1.000000	0.71417	0.988000	0.46212	0.877000	0.50540	7.298000	0.78815	2.173000	0.68751	0.533000	0.62120	.		0.577	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911	Intron	C	48668741	T	C	48668741	5	2	651	1	0	0	0	0	0	0	1	0	14527	1594	55	3	1469	3	SLC26A6	3	48668741	Splice_Site	SNP	T	TCGA-G7-6797-01A-11D-1961-08	2269656	48668741	149353689	11	35377											
ZMYND10	51364	hgsc.bcm.edu	37	3	50379017	50379017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr3:50379017C>T	ENST00000231749.3	-	11	2507	c.1235G>A	c.(1234-1236)tGg>tAg	p.W412*	ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10_ENST00000360165.3_Nonsense_Mutation_p.W407*|RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000490675.1_5'UTR	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	412	Interaction with LRRC6.				inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGCAATACCACTCATTCTG	0.572										TSP Lung(30;0.18)																																						0													138	129	132					3																	50379017		2203	4300	6503	SO:0001587	stop_gained	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.1235G>A	chr3.hg19:g.50379017C>T	ENSP00000231749:p.Trp412*		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Nonsense_Mutation	SNP	ENST00000231749.3	hg19	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	C	37	6.249939	0.97412	.	.	ENSG00000004838	ENST00000231749;ENST00000360165	.	.	.	5.4	5.4	0.78164	.	0.053779	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9405	19.525	0.95201	0.0:1.0:0.0:0.0	.	.	.	.	X	412;407	.	ENSP00000231749:W412X	W	-	2	0	ZMYND10	50354021	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.761000	0.85260	2.699000	0.92147	0.655000	0.94253	TGG		0.572	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		T	50379017	C	T	50379017	4	4	651	1	0	0	0	0	0	1	0	0	17710	595	21	2	95	2	ZMYND10	3	50379017	Nonsense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	1710276	50379017	147643413	12	35378											
C3orf63	23272	hgsc.bcm.edu	37	3	56658883	56658883	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr3:56658883G>C	ENST00000493960.2	-	22	4301	c.4291C>G	c.(4291-4293)Cag>Gag	p.Q1431E	FAM208A_ENST00000431842.2_Missense_Mutation_p.Q994E|FAM208A_ENST00000485156.1_Intron|FAM208A_ENST00000355628.5_Missense_Mutation_p.Q1370E	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1431							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TGTCGTTGCTGTATGTTCTGA	0.383																																																0													127	125	126					3																	56658883		2203	4300	6503	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.4291C>G	chr3.hg19:g.56658883G>C	ENSP00000417509:p.Gln1431Glu		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	hg19	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279138	0.80692	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.53206	0.63;0.63;0.63	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000008	T	0.52613	0.1745	L	0.38838	1.175	0.47245	D	0.999367	P;B;D;B	0.61697	0.629;0.045;0.99;0.435	B;B;P;B	0.55011	0.382;0.094;0.766;0.104	T	0.54070	-0.8348	10	0.72032	D	0.01	-0.4466	14.6453	0.68756	0.0:0.0:0.8544:0.1456	.	1431;1370;994;1431	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	E	994;1431;1370	ENSP00000399410:Q994E;ENSP00000417509:Q1431E;ENSP00000347845:Q1370E	ENSP00000347845:Q1370E	Q	-	1	0	C3orf63	56633923	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.500000	0.81588	2.685000	0.91497	0.655000	0.94253	CAG		0.383	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		C	56658883	G	C	56658883	3	2	651	1	0	0	0	0	1	0	0	0	2241	1386	48	4	793	4	C3orf63	3	56658883	Missense_Mutation	SNP	G	TCGA-G7-6797-01A-11D-1961-08	6279866	56658883	141363547	13	35379											
ACOX2	8309	hgsc.bcm.edu	37	3	58517532	58517532	+	Silent	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr3:58517532C>A	ENST00000302819.5	-	6	882	c.591G>T	c.(589-591)cgG>cgT	p.R197R	ACOX2_ENST00000459701.2_Silent_p.R197R	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	197					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GGGTGGCTGACCGTCCCACTG	0.612																																																0													57	50	52					3																	58517532		2203	4300	6503	SO:0001819	synonymous_variant	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.591G>T	chr3.hg19:g.58517532C>A			A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	hg19	CCDS33775.1																																																																																				0.612	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			A	58517532	C	A	58517532	2	1	651	1	0	0	0	0	0	0	0	1	159	494	18	4		4	ACOX2	3	58517532	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08	1858649	58517532	139504898	14	35380											
EPHA3	2042	hgsc.bcm.edu	37	3	89521663	89521663	+	Missense_Mutation	SNP	C	C	A	rs549868478	byFrequency	TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr3:89521663C>A	ENST00000336596.2	+	16	2965	c.2740C>A	c.(2740-2742)Cgc>Agc	p.R914S	EPHA3_ENST00000494014.1_Missense_Mutation_p.R914S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	914	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.		R -> H (in dbSNP:rs17801309). {ECO:0000269|PubMed:17344846}.		cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CACTACCTTCCGCACAACAGG	0.468										TSP Lung(6;0.00050)																																						0													181	170	174					3																	89521663		2203	4300	6503	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2740C>A	chr3.hg19:g.89521663C>A	ENSP00000337451:p.Arg914Ser		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	hg19	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	c	12.06	1.824931	0.32237	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;T	0.83755	-1.76;-0.64	5.73	3.93	0.45458	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.328872	0.37012	N	0.002289	T	0.72542	0.3473	N	0.19112	0.55	0.26449	N	0.975649	B	0.28760	0.221	B	0.33521	0.165	T	0.59220	-0.7495	9	.	.	.	.	13.0963	0.59195	0.1289:0.7475:0.1236:0.0	.	914	P29320	EPHA3_HUMAN	S	914	ENSP00000337451:R914S;ENSP00000419190:R914S	.	R	+	1	0	EPHA3	89604353	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.492000	0.45311	0.772000	0.33382	-0.121000	0.15023	CGC		0.468	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		A	89521663	C	A	89521663	3	1	651	1	0	0	0	0	1	0	0	0	5170	652	23	4	2828	4	EPHA3	3	89521663	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	31004131	89521663	108500767	15	35381											
ZBTB11	27107	hgsc.bcm.edu	37	3	101370105	101370105	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr3:101370105C>T	ENST00000312938.4	-	11	3647	c.3067G>A	c.(3067-3069)Gta>Ata	p.V1023I		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1023					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTGCTAATACATAATTAACC	0.398																																																0													135	131	132					3																	101370105		2203	4300	6503	SO:0001583	missense	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.3067G>A	chr3.hg19:g.101370105C>T	ENSP00000326200:p.Val1023Ile		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	hg19	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982094	0.93044	.	.	ENSG00000066422	ENST00000312938	T	0.12672	2.66	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.00899	-1.1522	10	0.30078	T	0.28	-12.9426	19.5182	0.95174	0.0:1.0:0.0:0.0	.	1023	O95625	ZBT11_HUMAN	I	1023	ENSP00000326200:V1023I	ENSP00000326200:V1023I	V	-	1	0	ZBTB11	102852795	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	7.445000	0.80570	2.692000	0.91855	0.555000	0.69702	GTA		0.398	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		T	101370105	C	T	101370105	3	4	651	1	0	0	0	0	1	0	0	0	17529	478	17	2	98	2	ZBTB11	3	101370105	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	11848442	101370105	96652325	16	35382											
KIAA2018	205717	hgsc.bcm.edu	37	3	113376409	113376409	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr3:113376409T>C	ENST00000478658.1	-	5	4137	c.4120A>G	c.(4120-4122)Atg>Gtg	p.M1374V	KIAA2018_ENST00000316407.4_Missense_Mutation_p.M1374V|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1374						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGACTGACCATCATTTGAGTT	0.468																																																0													105	102	103					3																	113376409		1991	4160	6151	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4120A>G	chr3.hg19:g.113376409T>C	ENSP00000420721:p.Met1374Val		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	hg19	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.417459	0.25552	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.18338	2.22;2.22	5.68	4.46	0.54185	.	0.087940	0.85682	D	0.000000	T	0.13415	0.0325	L	0.32530	0.975	0.47862	D	0.999537	B	0.30406	0.278	B	0.30179	0.112	T	0.07404	-1.0774	10	0.37606	T	0.19	-12.1634	11.116	0.48259	0.0:0.0:0.3371:0.6629	.	1374	Q68DE3	K2018_HUMAN	V	1374	ENSP00000320794:M1374V;ENSP00000420721:M1374V	ENSP00000320794:M1374V	M	-	1	0	KIAA2018	114859099	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.543000	0.45752	2.169000	0.68431	0.402000	0.26972	ATG		0.468	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		C	113376409	T	C	113376409	3	2	651	1	0	0	0	0	1	0	0	0	8270	1435	50	3	2621	3	KIAA2018	3	113376409	Missense_Mutation	SNP	T	TCGA-G7-6797-01A-11D-1961-08	12006304	113376409	84646021	17	35383											
FSTL1	11167	hgsc.bcm.edu	37	3	120122159	120122159	+	Silent	SNP	A	A	G			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr3:120122159A>G	ENST00000295633.3	-	8	980	c.624T>C	c.(622-624)aaT>aaC	p.N208N	FSTL1_ENST00000424703.2_Silent_p.N173N	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	208	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCCAATCAGCATTTTCATCAG	0.438																																																0													106	106	106					3																	120122159		2203	4300	6503	SO:0001819	synonymous_variant	11167			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.624T>C	chr3.hg19:g.120122159A>G			A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	ENST00000295633.3	hg19	CCDS2998.1																																																																																				0.438	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		G	120122159	A	G	120122159	2	3	651	1	0	0	0	0	0	0	0	1	6079	214	8	3		3	FSTL1	3	120122159	Silent	SNP	A	TCGA-G7-6797-01A-11D-1961-08	6745750	120122159	77900271	18	35384											
ETV5	2119	hgsc.bcm.edu	37	3	185766603	185766603	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr3:185766603G>A	ENST00000306376.5	-	13	1604	c.1358C>T	c.(1357-1359)gCc>gTc	p.A453V	ETV5_ENST00000434744.1_Missense_Mutation_p.A453V|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.A495V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	453					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGAGAAGAGGGCATCTGGGTC	0.582			T	"TMPRSS2, SCL45A3"	Prostate																																		Dom	yes		3	3q28	2119	ets variant gene 5		E	0													70	61	64					3																	185766603		2203	4300	6503	SO:0001583	missense	2119			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1358C>T	chr3.hg19:g.185766603G>A	ENSP00000306894:p.Ala453Val		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	hg19	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043894	0.93685	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.54866	0.55;0.55;0.55	5.85	5.85	0.93711	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	L	0.49513	1.565	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.70149	-0.4951	10	0.87932	D	0	.	18.9349	0.92582	0.0:0.0:1.0:0.0	.	453;495	P41161;B7Z7D7	ETV5_HUMAN;.	V	453;453;495	ENSP00000306894:A453V;ENSP00000413755:A453V;ENSP00000441737:A495V	ENSP00000306894:A453V	A	-	2	0	ETV5	187249297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.773000	0.95371	0.655000	0.94253	GCC		0.582	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		A	185766603	G	A	185766603	3	1	651	1	0	0	0	0	1	0	0	0	5284	1203	42	2	178	2	ETV5	3	185766603	Missense_Mutation	SNP	G	TCGA-G7-6797-01A-11D-1961-08	65644444	185766603	12255827	19	35385											
SLC4A4	8671	hgsc.bcm.edu	37	4	72332250	72332250	+	Silent	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr4:72332250C>A	ENST00000264485.5	+	13	1704	c.1587C>A	c.(1585-1587)acC>acA	p.T529T	SLC4A4_ENST00000512686.1_Silent_p.T485T|SLC4A4_ENST00000351898.6_Silent_p.T529T|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Silent_p.T529T|SLC4A4_ENST00000340595.3_Silent_p.T485T	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	529			T -> S (in pRTA-OA; decreased cotransporter activity). {ECO:0000269|PubMed:15930088, ECO:0000303|PubMed:17661077}.		bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TGAGCAGCACCGGACCTGTCC	0.398																																																0													150	142	145					4																	72332250		2203	4300	6503	SO:0001819	synonymous_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1587C>A	chr4.hg19:g.72332250C>A			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	hg19	CCDS43236.1																																																																																				0.398	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		A	72332250	C	A	72332250	2	1	651	1	0	0	0	0	0	0	0	1	14662	639	23	4		4	SLC4A4	4	72332250	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08		72332250	118822026	20	35386											
ANK2	287	hgsc.bcm.edu	37	4	114177035	114177035	+	Missense_Mutation	SNP	C	C	A	rs143043717	byFrequency	TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr4:114177035C>A	ENST00000357077.4	+	11	1188	c.1135C>A	c.(1135-1137)Cgt>Agt	p.R379S	ANK2_ENST00000506722.1_Missense_Mutation_p.R358S|ANK2_ENST00000394537.3_Missense_Mutation_p.R379S|ANK2_ENST00000264366.6_Missense_Mutation_p.R379S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	379					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R379S(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCCACTACCGTGTAACCAA	0.507																																																2	Substitution - Missense(2)	lung(1)|central_nervous_system(1)											158	141	147					4																	114177035		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1135C>A	chr4.hg19:g.114177035C>A	ENSP00000349588:p.Arg379Ser		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719331	0.89205	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.63744	-0.06;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000026	T	0.64778	0.2629	N	0.05306	-0.075	0.80722	D	1	D;D;P;P;D	0.67145	0.984;0.973;0.929;0.885;0.996	P;P;B;P;D	0.79784	0.877;0.56;0.429;0.56;0.993	T	0.72711	-0.4211	10	0.59425	D	0.04	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	379;379;379;358;358	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	S	358;358;358;394;379;379;379;358	ENSP00000423799:R358S;ENSP00000421011:R358S;ENSP00000421067:R358S;ENSP00000424722:R394S;ENSP00000378044:R379S;ENSP00000349588:R379S;ENSP00000264366:R379S	ENSP00000264366:R379S	R	+	1	0	ANK2	114396484	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.021000	0.64072	2.794000	0.96219	0.655000	0.94253	CGT		0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		A	114177035	C	A	114177035	3	1	651	1	0	0	0	0	1	0	0	0	621	652	23	4	1202	4	ANK2	4	114177035	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	41844785	114177035	76977241	21	35387											
FAT4	79633	hgsc.bcm.edu	37	4	126369689	126369689	+	Silent	SNP	G	G	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr4:126369689G>T	ENST00000394329.3	+	9	7531	c.7518G>T	c.(7516-7518)tcG>tcT	p.S2506S	FAT4_ENST00000335110.5_Silent_p.S804S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2506	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTCTCTTTCGGGTAGAAATT	0.423																																																0													68	71	70					4																	126369689		2203	4299	6502	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7518G>T	chr4.hg19:g.126369689G>T			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	hg19	CCDS3732.3																																																																																				0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		T	126369689	G	T	126369689	2	4	651	1	0	0	0	0	0	0	0	1	5694	1103	39	4		4	FAT4	4	126369689	Silent	SNP	G	TCGA-G7-6797-01A-11D-1961-08	12192654	126369689	64784587	22	35388											
FAT1	2195	hgsc.bcm.edu	37	4	187539870	187539870	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr4:187539870C>A	ENST00000441802.2	-	10	8079	c.7870G>T	c.(7870-7872)Gat>Tat	p.D2624Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2624	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGCCCTCATCGGCATCACTT	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													63	59	60					4																	187539870		1948	4127	6075	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7870G>T	chr4.hg19:g.187539870C>A	ENSP00000406229:p.Asp2624Tyr			Missense_Mutation	SNP	ENST00000441802.2	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612696	0.46631	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.74737	-0.87	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95297	0.8400	10	0.87932	D	0	.	19.2916	0.94102	0.0:1.0:0.0:0.0	.	2624	Q14517	FAT1_HUMAN	Y	2624;2626	ENSP00000406229:D2624Y	ENSP00000260147:D2626Y	D	-	1	0	FAT1	187776864	1.000000	0.71417	0.347000	0.25668	0.077000	0.17291	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	GAT		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187539870	C	A	187539870	3	1	651	1	0	0	0	0	1	0	0	0	5691	884	31	4	5968	4	FAT1	4	187539870	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	61170181	187539870	3614406	23	35389											
FAT1	2195	hgsc.bcm.edu	37	4	187630250	187630250	+	Silent	SNP	C	C	A	rs374978739		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr4:187630250C>A	ENST00000441802.2	-	2	941	c.732G>T	c.(730-732)acG>acT	p.T244T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	244	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGATGTGCACCGTTAGCTTGG	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													144	143	143					4																	187630250		2179	4286	6465	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.732G>T	chr4.hg19:g.187630250C>A				Silent	SNP	ENST00000441802.2	hg19	CCDS47177.1																																																																																				0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		A	187630250	C	A	187630250	2	1	651	1	0	0	0	0	0	0	0	1	5691	639	23	4		4	FAT1	4	187630250	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08	90380	187630250	3524026	24	35390											
RGS7BP	401190	hgsc.bcm.edu	37	5	63905047	63905047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr5:63905047delT	ENST00000334025.2	+	6	1068	c.742delT	c.(742-744)ttcfs	p.F249fs		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	249					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GAAGAGAAGGTTCTTTGGGCT	0.478																																																0													168	148	155					5																	63905047		2203	4300	6503	SO:0001589	frameshift_variant	401190			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"regulator of G-protein signalling 7 binding protein"			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.742delT	chr5.hg19:g.63905047delT	ENSP00000334851:p.Phe249fs		B7Z3X1	Frame_Shift_Del	DEL	ENST00000334025.2	hg19	CCDS34170.1																																																																																				0.478	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		-	63905047	T	-	63905047	7	5	651	1	0	1	0	1	0	0	0	0	13317	1725	60	0	764	0	RGS7BP	5	63905047	Frame_Shift_Del	DEL	T	TCGA-G7-6797-01A-11D-1961-08		63905047	117010213	25	35391											
BHMT	635	hgsc.bcm.edu	37	5	78426827	78426828	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr5:78426827_78426828insA	ENST00000274353.5	+	8	1216_1217	c.1109_1110insA	c.(1108-1113)ccagatfs	p.D371fs	BHMT_ENST00000524080.1_Frame_Shift_Ins_p.D218fs|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	371					amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	ATGTCAAAGCCAGATGGCTGGG	0.495																																																0																																										SO:0001589	frameshift_variant	635			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.1110dupA	chr5.hg19:g.78426828_78426828dupA	ENSP00000274353:p.Asp371fs		Q9UNI9	Frame_Shift_Ins	INS	ENST00000274353.5	hg19	CCDS4046.1																																																																																				0.495	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		A	78426828	-	A	78426827	7	5	651	1	0	1	1	0	0	0	0	0	1425	594	21	0	1139	0	BHMT	5	78426827	Frame_Shift_Ins	INS	-	TCGA-G7-6797-01A-11D-1961-08	14521780	78426827	102488433	26	35392											
PCDHB4	56131	hgsc.bcm.edu	37	5	140502471	140502471	+	Silent	SNP	G	G	T	rs375984500	byFrequency	TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr5:140502471G>T	ENST00000194152.1	+	1	891	c.891G>T	c.(889-891)acG>acT	p.T297T	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAAGTCACGGGAGAAATAC	0.358																																																0													86	103	97					5																	140502471		2197	4298	6495	SO:0001819	synonymous_variant	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.891G>T	chr5.hg19:g.140502471G>T			Q4V761	Silent	SNP	ENST00000194152.1	hg19	CCDS4246.1																																																																																				0.358	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		T	140502471	G	T	140502471	2	4	651	1	0	0	0	0	0	0	0	1	11546	1103	39	4		4	PCDHB4	5	140502471	Silent	SNP	G	TCGA-G7-6797-01A-11D-1961-08	62075644	140502471	40412789	27	35393											
ECT2L	345930	hgsc.bcm.edu	37	6	139167797	139167797	+	Silent	SNP	C	C	A	rs376022291		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr6:139167797C>A	ENST00000423192.1	+	7	1047	c.886C>A	c.(886-888)Cgg>Agg	p.R296R	ECT2L_ENST00000367682.2_Silent_p.R296R|ECT2L_ENST00000541398.1_Silent_p.R227R			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	296							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AATATCATCCCGGATTCCTGC	0.383			"N, Splice, Mis"		ETP ALL																																		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													227	218	221					6																	139167797		1940	4146	6086	SO:0001819	synonymous_variant	345930				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.886C>A	chr6.hg19:g.139167797C>A			B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	hg19	CCDS43508.1																																																																																				0.383	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		A	139167797	C	A	139167797	2	1	651	1	0	0	0	0	0	0	0	1	4904	643	23	4		4	ECT2L	6	139167797	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08		139167797	31947270	28	35394											
AKAP12	9590	hgsc.bcm.edu	37	6	151626981	151626981	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr6:151626981C>G	ENST00000253332.1	+	2	451	c.262C>G	c.(262-264)Ctg>Gtg	p.L88V	AKAP12_ENST00000402676.2_Missense_Mutation_p.L88V			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	88					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAAAGGAGCCCTGAACGGTCA	0.552																																					Melanoma(141;1616 1805 10049 24534 51979)											0													53	46	49					6																	151626981		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.262C>G	chr6.hg19:g.151626981C>G	ENSP00000253332:p.Leu88Val		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	hg19	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	0.285	-0.983780	0.02180	.	.	ENSG00000131016	ENST00000402676;ENST00000253332	T;T	0.08546	3.08;3.08	0.158	0.158	0.14942	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48031	-0.9070	8	0.30854	T	0.27	.	.	.	.	.	88	Q02952	AKA12_HUMAN	V	88	ENSP00000384537:L88V;ENSP00000253332:L88V	ENSP00000253332:L88V	L	+	1	2	AKAP12	151668674	.	.	0.029000	0.17559	0.052000	0.14988	.	.	0.202000	0.20498	0.205000	0.17691	CTG		0.552	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			G	151626981	C	G	151626981	3	3	651	1	0	0	0	0	1	0	0	0	448	680	24	4	268	4	AKAP12	6	151626981	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	12459184	151626981	19488086	29	35395											
PGAM2	5224	hgsc.bcm.edu	37	7	44105125	44105125	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr7:44105125C>A	ENST00000297283.3	-	1	61	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	2					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CGGTGAGTGGCCATGGTGGCA	0.607																																																0													62	54	57					7																	44105125		2203	4300	6503	SO:0001583	missense	5224				CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.4G>T	chr7.hg19:g.44105125C>A	ENSP00000297283:p.Ala2Ser			Missense_Mutation	SNP	ENST00000297283.3	hg19	CCDS34624.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060303	0.36373	.	.	ENSG00000164708	ENST00000297283	T	0.80909	-1.43	5.93	-3.63	0.04529	.	0.487586	0.24258	N	0.040105	T	0.55162	0.1903	N	0.05554	-0.025	0.29035	N	0.885422	B	0.06786	0.001	B	0.10450	0.005	T	0.40979	-0.9534	10	0.45353	T	0.12	-11.1352	6.6092	0.22741	0.115:0.5762:0.2239:0.0848	.	2	P15259	PGAM2_HUMAN	S	2	ENSP00000297283:A2S	ENSP00000297283:A2S	A	-	1	0	PGAM2	44071650	0.648000	0.27313	0.979000	0.43373	0.986000	0.74619	-0.141000	0.10327	-0.536000	0.06298	0.650000	0.86243	GCC		0.607	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			A	44105125	C	A	44105125	3	1	651	1	0	0	0	0	1	0	0	0	11776	739	26	4	769	4	PGAM2	7	44105125	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08		44105125	115033538	30	35396											
TMED4	222068	hgsc.bcm.edu	37	7	44621125	44621125	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr7:44621125A>G	ENST00000457408.2	-	3	362	c.310T>C	c.(310-312)Tcc>Ccc	p.S104P	TMED4_ENST00000289577.5_Missense_Mutation_p.S104P|TMED4_ENST00000481238.1_Missense_Mutation_p.S104P|TMED4_ENST00000444131.2_5'UTR	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	104	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGCGTGTGGGAGGTGAACGTG	0.557																																																0													89	89	89					7																	44621125		2203	4300	6503	SO:0001583	missense	222068			BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.310T>C	chr7.hg19:g.44621125A>G	ENSP00000404042:p.Ser104Pro		A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Missense_Mutation	SNP	ENST00000457408.2	hg19	CCDS5493.1	.	.	.	.	.	.	.	.	.	.	A	34	5.340815	0.95783	.	.	ENSG00000158604	ENST00000457408;ENST00000289577;ENST00000419520;ENST00000481238	T;T;T	0.18502	2.21;2.21;2.21	5.22	5.22	0.72569	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	M	0.93720	3.45	0.80722	D	1	D;D	0.76494	0.999;0.984	D;D	0.74348	0.983;0.962	T	0.63795	-0.6556	10	0.87932	D	0	-13.0927	13.1033	0.59233	1.0:0.0:0.0:0.0	.	104;104	Q7Z7H5-3;Q7Z7H5	.;TMED4_HUMAN	P	104;104;88;104	ENSP00000404042:S104P;ENSP00000289577:S104P;ENSP00000417443:S104P	ENSP00000289577:S104P	S	-	1	0	TMED4	44587650	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.944000	0.92980	2.191000	0.70037	0.533000	0.62120	TCC		0.557	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251290.1	NM_182547		G	44621125	A	G	44621125	3	3	651	1	0	0	0	0	1	0	0	0	16011	304	11	3	385	3	TMED4	7	44621125	Missense_Mutation	SNP	A	TCGA-G7-6797-01A-11D-1961-08	516000	44621125	114517538	31	35397											
ADAM28	10863	hgsc.bcm.edu	37	8	24209520	24209520	+	Silent	SNP	T	T	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr8:24209520T>C	ENST00000265769.4	+	21	2309	c.2199T>C	c.(2197-2199)caT>caC	p.H733H	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.C482R	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	733					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGAAGCCCCATGTGTATGATC	0.378																																					NSCLC(193;488 2149 22258 34798 40734)											0													117	114	115					8																	24209520		2203	4300	6503	SO:0001819	synonymous_variant	10863			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.2199T>C	chr8.hg19:g.24209520T>C			B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	hg19	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	T	7.970	0.748895	0.15710	.	.	ENSG00000042980	ENST00000397649;ENST00000521629	T	0.01745	4.66	4.14	-4.67	0.03319	.	.	.	.	.	T	0.01800	0.0057	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42189	-0.9466	6	0.87932	D	0	.	2.3577	0.04300	0.1532:0.4266:0.1567:0.2635	.	.	.	.	R	482;366	ENSP00000380770:C482R	ENSP00000380770:C482R	C	+	1	0	ADAM28	24265465	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.317000	0.01122	-0.875000	0.04022	-0.347000	0.07816	TGT		0.378	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		C	24209520	T	C	24209520	2	2	651	1	0	0	0	0	0	0	0	1	246	1461	51	3		3	ADAM28	8	24209520	Silent	SNP	T	TCGA-G7-6797-01A-11D-1961-08		24209520	122154502	32	35398											
C8orf41	80185	hgsc.bcm.edu	37	8	33369626	33369626	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr8:33369626C>A	ENST00000431156.2	-	2	1124	c.506G>T	c.(505-507)cGg>cTg	p.R169L	SNORD13_ENST00000459299.1_RNA|TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000360742.5_Missense_Mutation_p.R169L|TTI2_ENST00000520636.1_Missense_Mutation_p.R169L	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	169																	AGCAACTTCCCGAGATCTCGG	0.522																																																0													149	145	147					8																	33369626		2203	4300	6503	SO:0001583	missense	80185			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"chromosome 8 open reading frame 41", "Tel2 interacting protein 2 homolog (S. pombe)"	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.506G>T	chr8.hg19:g.33369626C>A	ENSP00000411169:p.Arg169Leu		D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	hg19	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	C	3.157	-0.172868	0.06421	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636;ENST00000520397	T;T;T	0.76839	-0.71;-0.71;-1.05	4.66	-6.22	0.02058	.	0.588907	0.13846	N	0.358711	T	0.65668	0.2713	L	0.31926	0.97	0.09310	N	1	B;B;B	0.16396	0.014;0.017;0.014	B;B;B	0.18561	0.019;0.022;0.013	T	0.42103	-0.9471	10	0.54805	T	0.06	-4.8077	16.956	0.86259	0.0:0.749:0.0:0.251	.	169;169;169	E5RH83;Q6NXR4;E5RIH5	.;TTI2_HUMAN;.	L	169	ENSP00000353971:R169L;ENSP00000411169:R169L;ENSP00000428401:R169L	ENSP00000353971:R169L	R	-	2	0	C8orf41	33489168	0.000000	0.05858	0.000000	0.03702	0.411000	0.31082	-1.676000	0.01946	-1.280000	0.02402	-0.136000	0.14681	CGG		0.522	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		A	33369626	C	A	33369626	3	1	651	1	0	0	0	0	1	0	0	0	2429	652	23	4	1048	4	C8orf41	8	33369626	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	9160106	33369626	112994396	33	35399											
XKR4	114786	hgsc.bcm.edu	37	8	56435874	56435874	+	Silent	SNP	C	C	G	rs4263738		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr8:56435874C>G	ENST00000327381.6	+	3	1141	c.1041C>G	c.(1039-1041)gcC>gcG	p.A347A	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	347						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGTCCCTGGCCTGGGCCTTGG	0.562																																																0													62	57	59					8																	56435874		2203	4300	6503	SO:0001819	synonymous_variant	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1041C>G	chr8.hg19:g.56435874C>G			Q96PZ8	Silent	SNP	ENST00000327381.6	hg19	CCDS34893.1																																																																																				0.562	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		G	56435874	C	G	56435874	2	3	651	1	0	0	0	0	0	0	0	1	17438	668	24	4		4	XKR4	8	56435874	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08	23066248	56435874	89928148	34	35400											
HNF4G	3174	hgsc.bcm.edu	37	8	76465335	76465335	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr8:76465335T>C	ENST00000354370.1	+	6	677	c.407T>C	c.(406-408)aTt>aCt	p.I136T	HNF4G_ENST00000396423.2_Missense_Mutation_p.I173T			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	136					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTGCAAGTATTGGTGATGTC	0.358																																																0													120	109	113					8																	76465335		2203	4300	6503	SO:0001583	missense	3174				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.407T>C	chr8.hg19:g.76465335T>C	ENSP00000346339:p.Ile136Thr		Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	hg19		.	.	.	.	.	.	.	.	.	.	T	17.96	3.517111	0.64634	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.94723	-3.5;-3.5	5.4	5.4	0.78164	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.102401	0.64402	D	0.000003	D	0.93769	0.8008	M	0.71036	2.16	0.58432	D	0.999998	B;B	0.10296	0.001;0.003	B;B	0.21151	0.02;0.033	D	0.91547	0.5254	10	0.66056	D	0.02	.	15.5943	0.76566	0.0:0.0:0.0:1.0	.	173;136	F1D8Q4;Q14541	.;HNF4G_HUMAN	T	136;173	ENSP00000346339:I136T;ENSP00000379701:I173T	ENSP00000346339:I136T	I	+	2	0	HNF4G	76627890	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	7.450000	0.80656	2.263000	0.75096	0.533000	0.62120	ATT		0.358	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		C	76465335	T	C	76465335	3	2	651	1	0	0	0	0	1	0	0	0	7256	1493	52	3	536	3	HNF4G	8	76465335	Missense_Mutation	SNP	T	TCGA-G7-6797-01A-11D-1961-08	20029461	76465335	69898687	35	35401											
PTK2	5747	hgsc.bcm.edu	37	8	141745382	141745382	+	Silent	SNP	C	C	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr8:141745382C>T	ENST00000522684.1	-	22	2227	c.1998G>A	c.(1996-1998)cgG>cgA	p.R666R	PTK2_ENST00000535192.1_Silent_p.R666R|PTK2_ENST00000519465.1_Silent_p.R294R|PTK2_ENST00000538769.1_Silent_p.R334R|PTK2_ENST00000340930.3_Silent_p.R666R|PTK2_ENST00000521059.1_Silent_p.R666R|MIR151A_ENST00000521276.1_RNA|PTK2_ENST00000395218.2_Silent_p.R666R|PTK2_ENST00000517887.1_Silent_p.R710R|PTK2_ENST00000519419.1_Silent_p.R710R	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TAAACCTGGGCCGCCTGCTGG	0.532																																																0													61	52	55					8																	141745382		2203	4300	6503	SO:0001819	synonymous_variant	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1998G>A	chr8.hg19:g.141745382C>T			B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	hg19	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036008	0.19590	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.51	3.39	0.38822	.	.	.	.	.	T	0.62171	0.2406	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60591	-0.7233	4	.	.	.	.	11.6247	0.51138	0.0:0.7826:0.0:0.2174	.	.	.	.	T	677	.	.	A	-	1	0	PTK2	141814564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.429000	0.34903	1.340000	0.45581	-0.136000	0.14681	GCC		0.532	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		T	141745382	C	T	141745382	2	4	651	1	0	0	0	0	0	0	0	1	12768	726	26	2		2	PTK2	8	141745382	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08	65280047	141745382	4618640	36	35402											
TBC1D13	54662	hgsc.bcm.edu	37	9	131565636	131565636	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr9:131565636C>G	ENST00000372648.5	+	8	801	c.651C>G	c.(649-651)atC>atG	p.I217M	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_Missense_Mutation_p.I36M|TBC1D13_ENST00000223865.8_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	217	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TCCTGTTCATCTACGCCAAGC	0.552																																																0													151	121	131					9																	131565636		2203	4300	6503	SO:0001583	missense	54662			AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.651C>G	chr9.hg19:g.131565636C>G	ENSP00000361731:p.Ile217Met		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	ENST00000372648.5	hg19	CCDS6911.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.879150	0.72294	.	.	ENSG00000107021	ENST00000372648;ENST00000539497	T;T	0.12569	2.67;2.67	5.48	4.56	0.56223	Rab-GAP/TBC domain (4);	0.111120	0.64402	N	0.000011	T	0.29976	0.0750	M	0.78223	2.4	0.80722	D	1	D	0.55605	0.972	P	0.58721	0.844	T	0.02588	-1.1137	10	0.41790	T	0.15	-25.7081	8.7782	0.34776	0.0:0.769:0.1524:0.0786	.	217	Q9NVG8	TBC13_HUMAN	M	217;36	ENSP00000361731:I217M;ENSP00000437751:I36M	ENSP00000361731:I217M	I	+	3	3	TBC1D13	130605457	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	4.786000	0.62425	1.253000	0.44018	0.655000	0.94253	ATC		0.552	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		G	131565636	C	G	131565636	3	3	651	1	0	0	0	0	1	0	0	0	15607	903	32	4	681	4	TBC1D13	9	131565636	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08		131565636	9647795	37	35403											
MCM10	55388	hgsc.bcm.edu	37	10	13222572	13222572	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr10:13222572A>C	ENST00000484800.2	+	7	1001	c.898A>C	c.(898-900)Ata>Cta	p.I300L	MCM10_ENST00000378694.1_Missense_Mutation_p.I299L|MCM10_ENST00000378714.3_Missense_Mutation_p.I299L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	300	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ATTTGGGGTTATATTGAAGAA	0.423																																																0													232	230	231					10																	13222572		2203	4300	6503	SO:0001583	missense	55388			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.898A>C	chr10.hg19:g.13222572A>C	ENSP00000418268:p.Ile300Leu		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	hg19	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.422993	0.25639	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.16073	2.38;2.37;2.37	5.82	5.82	0.92795	.	0.103877	0.64402	D	0.000003	T	0.16257	0.0391	N	0.26042	0.785	0.53688	D	0.999971	B;B;B	0.22683	0.037;0.073;0.008	B;B;B	0.30029	0.061;0.11;0.041	T	0.05683	-1.0870	10	0.36615	T	0.2	-11.6005	16.1814	0.81903	1.0:0.0:0.0:0.0	.	299;299;300	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	L	299;300;300;299	ENSP00000367986:I299L;ENSP00000418268:I300L;ENSP00000367966:I299L	ENSP00000354945:I300L	I	+	1	0	MCM10	13262578	1.000000	0.71417	0.940000	0.37924	0.594000	0.36715	4.284000	0.58983	2.234000	0.73211	0.533000	0.62120	ATA		0.423	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		C	13222572	A	C	13222572	3	2	651	1	0	0	0	0	1	0	0	0	9387	449	16	5	920	5	MCM10	10	13222572	Missense_Mutation	SNP	A	TCGA-G7-6797-01A-11D-1961-08		13222572	122312175	38	35404											
C10orf68	79741	hgsc.bcm.edu	37	10	33134884	33134884	+	Silent	SNP	C	C	A	rs201575874	byFrequency	TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr10:33134884C>A	ENST00000375030.2	+	17	1825	c.1207C>A	c.(1207-1209)Cga>Aga	p.R403R	C10orf68_ENST00000375028.3_Silent_p.R448R|C10orf68_ENST00000375025.4_Silent_p.R508R			Q9H943	CJ068_HUMAN		444								p.R444R(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GAAGAGTCACCGAGGTAAGAG	0.333																																																1	Substitution - coding silent(1)	lung(1)											70	82	78					10																	33134884		2202	4295	6497	SO:0001819	synonymous_variant	79741																														ENST00000375030.2:c.1207C>A	chr10.hg19:g.33134884C>A			B0QZ71|Q08AN7|Q8N7T7	Silent	SNP	ENST00000375030.2	hg19																																																																																					0.333	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			A	33134884	C	A	33134884	2	1	651	1	0	0	0	0	0	0	0	1	1615	644	23	4		4	C10orf68	10	33134884	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08	19912312	33134884	102399863	39	35405											
BMS1	9790	hgsc.bcm.edu	37	10	43315762	43315762	+	Missense_Mutation	SNP	C	C	A	rs397839854		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr10:43315762C>A	ENST00000374518.5	+	16	2722	c.2659C>A	c.(2659-2661)Cgc>Agc	p.R887S		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	887					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GATGTACGTCCGCATTGAGAT	0.458																																																0													135	131	132					10																	43315762		2203	4300	6503	SO:0001583	missense	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2659C>A	chr10.hg19:g.43315762C>A	ENSP00000363642:p.Arg887Ser		Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	hg19	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075513	0.76415	.	.	ENSG00000165733	ENST00000374518	T	0.19669	2.13	5.05	5.05	0.67936	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	M	0.92459	3.31	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	T	0.69363	-0.5165	10	0.59425	D	0.04	.	18.4608	0.90737	0.0:1.0:0.0:0.0	.	887	Q14692	BMS1_HUMAN	S	887	ENSP00000363642:R887S	ENSP00000363642:R887S	R	+	1	0	BMS1	42635768	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.662000	0.61525	2.352000	0.79861	0.454000	0.30748	CGC		0.458	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		A	43315762	C	A	43315762	3	1	651	1	0	0	0	0	1	0	0	0	1472	652	23	4	2717	4	BMS1	10	43315762	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	10180878	43315762	92218985	40	35406											
PCBD1	5092	hgsc.bcm.edu	37	10	72643783	72643783	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr10:72643783T>C	ENST00000299299.3	-	4	489	c.239A>G	c.(238-240)cAt>cGt	p.H80R	PCBD1_ENST00000493228.1_5'UTR	NM_000281.2	NP_000272.1	P61457	PHS_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha	80	Substrate binding. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein homotetramerization (GO:0051289)|regulation of protein homodimerization activity (GO:0043496)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	4-alpha-hydroxytetrahydrobiopterin dehydratase activity (GO:0008124)|identical protein binding (GO:0042802)|phenylalanine 4-monooxygenase activity (GO:0004505)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(1)	4						GGCACACTCATGGGTGCTCAG	0.512																																																0													94	76	82					10																	72643783		2203	4300	6503	SO:0001583	missense	5092			BC006324	CCDS31217.1	10q22	2014-04-01	2007-11-06	2005-02-11	ENSG00000166228	ENSG00000166228	4.2.1.96		8646	protein-coding gene	gene with protein product	"Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)", "pterin-4-alpha carbinolamine dehydratase", "dimerizing cofactor for HNF1"	126090	"6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)", "pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)"	DCOH, PCBD		8486378	Standard	XM_005269877		Approved	PCD	uc001jrn.1	P61457	OTTHUMG00000018417	ENST00000299299.3:c.239A>G	chr10.hg19:g.72643783T>C	ENSP00000299299:p.His80Arg		P70519|P80095|Q9D930	Missense_Mutation	SNP	ENST00000299299.3	hg19	CCDS31217.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.375645	0.61735	.	.	ENSG00000166228	ENST00000299299	D	0.92752	-3.1	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97801	0.9278	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99478	1.0947	10	0.87932	D	0	.	15.9584	0.79906	0.0:0.0:0.0:1.0	.	80	P61457	PHS_HUMAN	R	80	ENSP00000299299:H80R	ENSP00000299299:H80R	H	-	2	0	PCBD1	72313789	1.000000	0.71417	0.978000	0.43139	0.159000	0.22180	7.474000	0.81024	2.165000	0.68154	0.528000	0.53228	CAT		0.512	PCBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048527.1	NM_000281		C	72643783	T	C	72643783	3	2	651	1	0	0	0	0	1	0	0	0	11500	1464	51	3	79	3	PCBD1	10	72643783	Missense_Mutation	SNP	T	TCGA-G7-6797-01A-11D-1961-08	29328021	72643783	62890964	41	35407											
TSG101	7251	hgsc.bcm.edu	37	11	18505434	18505434	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr11:18505434G>T	ENST00000251968.3	-	8	1241	c.826C>A	c.(826-828)Cgt>Agt	p.R276S	TSG101_ENST00000536719.1_Missense_Mutation_p.R276S|TSG101_ENST00000357193.3_Missense_Mutation_p.R171S	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	276					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)	p.R276S(2)|p.R276C(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TGATCTAAACGGGTAACCATC	0.423																																					GBM(99;1348 1396 8611 26475 50572)											3	Substitution - Missense(3)	lung(2)|prostate(1)											188	186	187					11																	18505434		2199	4293	6492	SO:0001583	missense	7251			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.826C>A	chr11.hg19:g.18505434G>T	ENSP00000251968:p.Arg276Ser		Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	hg19	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730672	0.48939	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.22539	1.95;1.95;1.95	5.46	5.46	0.80206	.	0.054589	0.64402	D	0.000001	T	0.28599	0.0708	M	0.79926	2.475	0.51233	D	0.999916	B	0.21071	0.051	B	0.14023	0.01	T	0.14504	-1.0470	10	0.14656	T	0.56	-5.396	17.4765	0.87660	0.0:0.0:1.0:0.0	.	276	Q99816	TS101_HUMAN	S	276;276;171	ENSP00000438471:R276S;ENSP00000251968:R276S;ENSP00000349721:R171S	ENSP00000251968:R276S	R	-	1	0	TSG101	18462010	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.714000	0.68422	2.561000	0.86390	0.462000	0.41574	CGT		0.423	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		T	18505434	G	T	18505434	3	4	651	1	0	0	0	0	1	0	0	0	16621	1116	39	4	358	4	TSG101	11	18505434	Missense_Mutation	SNP	G	TCGA-G7-6797-01A-11D-1961-08		18505434	116501082	42	35408											
OR4C13	283092	hgsc.bcm.edu	37	11	49974076	49974076	+	Silent	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr11:49974076C>A	ENST00000555099.1	+	1	134	c.102C>A	c.(100-102)atC>atA	p.I34I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCATCTACATCAACGCCATGA	0.413																																																0													206	190	195					11																	49974076		2201	4296	6497	SO:0001819	synonymous_variant	283092			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.102C>A	chr11.hg19:g.49974076C>A			A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	hg19	CCDS31495.1																																																																																				0.413	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		A	49974076	C	A	49974076	2	1	651	1	0	0	0	0	0	0	0	1	11049	816	29	4		4	OR4C13	11	49974076	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08	31468642	49974076	85032440	43	35409											
FAT3	120114	hgsc.bcm.edu	37	11	92086947	92086947	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr11:92086947C>A	ENST00000298047.6	+	1	1686	c.1669C>A	c.(1669-1671)Cgc>Agc	p.R557S	FAT3_ENST00000541502.1_Missense_Mutation_p.R557S|FAT3_ENST00000525166.1_Missense_Mutation_p.R407S|FAT3_ENST00000409404.2_Missense_Mutation_p.R557S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCACCATACCGCCATGAAAG	0.418										TCGA Ovarian(4;0.039)																																						0													80	81	80					11																	92086947		1845	4102	5947	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1669C>A	chr11.hg19:g.92086947C>A	ENSP00000298047:p.Arg557Ser		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	hg19		.	.	.	.	.	.	.	.	.	.	C	14.21	2.466335	0.43839	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.82	5.82	0.92795	.	.	.	.	.	T	0.58119	0.2100	L	0.27053	0.805	0.48975	D	0.999731	D	0.89917	1.0	D	0.91635	0.999	T	0.53767	-0.8392	9	0.34782	T	0.22	.	19.0792	0.93175	0.0:1.0:0.0:0.0	.	557	Q8TDW7-3	.	S	557;557;557;407	ENSP00000298047:R557S;ENSP00000387040:R557S;ENSP00000443786:R557S;ENSP00000432586:R407S	ENSP00000298047:R557S	R	+	1	0	FAT3	91726595	1.000000	0.71417	0.997000	0.53966	0.585000	0.36419	6.184000	0.72008	2.755000	0.94549	0.591000	0.81541	CGC		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		A	92086947	C	A	92086947	3	1	651	1	0	0	0	0	1	0	0	0	5693	652	23	4	1671	4	FAT3	11	92086947	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	42112871	92086947	42919569	44	35410											
HEBP1	50865	hgsc.bcm.edu	37	12	13140120	13140120	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr12:13140120T>C	ENST00000014930.4	-	3	522	c.364A>G	c.(364-366)Att>Gtt	p.I122V	HEBP1_ENST00000536942.1_Missense_Mutation_p.I122V|RP11-392P7.6_ENST00000499948.2_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	122					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CGTTCCTCAATCTTAACGCTT	0.483																																																0													179	158	165					12																	13140120		2203	4300	6503	SO:0001583	missense	50865			AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"Endogenous ligands"	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.364A>G	chr12.hg19:g.13140120T>C	ENSP00000014930:p.Ile122Val		A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	hg19	CCDS31749.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.631678	0.29068	.	.	ENSG00000013583	ENST00000014930;ENST00000535636;ENST00000536942	T;T;T	0.25579	1.79;1.79;1.79	5.66	4.45	0.53987	Regulatory factor, effector, bacterial (1);	0.047188	0.85682	D	0.000000	T	0.33527	0.0866	M	0.77313	2.365	0.47737	D	0.9995	B	0.22746	0.074	B	0.32762	0.152	T	0.12192	-1.0557	10	0.27082	T	0.32	-5.125	12.5735	0.56352	0.1242:0.0:0.0:0.8758	.	122	Q9NRV9	HEBP1_HUMAN	V	122;51;122	ENSP00000014930:I122V;ENSP00000442020:I51V;ENSP00000441678:I122V	ENSP00000014930:I122V	I	-	1	0	HEBP1	13031387	1.000000	0.71417	0.882000	0.34594	0.210000	0.24377	3.727000	0.54984	2.283000	0.76528	0.533000	0.62120	ATT		0.483	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			C	13140120	T	C	13140120	3	2	651	1	0	0	0	0	1	0	0	0	7038	1435	50	3	213	3	HEBP1	12	13140120	Missense_Mutation	SNP	T	TCGA-G7-6797-01A-11D-1961-08		13140120	120711775	45	35411											
PPFIBP1	8496	hgsc.bcm.edu	37	12	27809595	27809595	+	Missense_Mutation	SNP	A	A	C	rs369414467		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr12:27809595A>C	ENST00000318304.8	+	10	1119	c.836A>C	c.(835-837)gAa>gCa	p.E279A	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E126A|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E248A|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E248A	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	279					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AAGGAATCTGAAGTAAAAAGG	0.313																																																0													73	76	75					12																	27809595		2203	4299	6502	SO:0001583	missense	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.836A>C	chr12.hg19:g.27809595A>C	ENSP00000314724:p.Glu279Ala		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	hg19	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699998	0.48307	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T;T	0.59083	0.29;0.62;0.71;1.19;1.2;1.61	5.05	5.05	0.67936	.	0.000000	0.35151	U	0.003420	T	0.56645	0.1999	L	0.38953	1.18	0.41614	D	0.988929	P;B;P;B	0.44776	0.828;0.044;0.843;0.073	P;B;B;B	0.49477	0.612;0.027;0.384;0.06	T	0.57940	-0.7724	10	0.42905	T	0.14	-26.9289	13.3332	0.60500	1.0:0.0:0.0:0.0	.	126;279;248;248	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	A	250;248;107;126;279;248;248	ENSP00000445822:E248A;ENSP00000444304:E107A;ENSP00000445425:E126A;ENSP00000314724:E279A;ENSP00000443442:E248A;ENSP00000228425:E248A	ENSP00000228425:E248A	E	+	2	0	PPFIBP1	27700862	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.463000	0.73530	2.022000	0.59522	0.533000	0.62120	GAA		0.313	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		C	27809595	A	C	27809595	3	2	651	1	0	0	0	0	1	0	0	0	12315	246	9	5	811	5	PPFIBP1	12	27809595	Missense_Mutation	SNP	A	TCGA-G7-6797-01A-11D-1961-08	14669475	27809595	106042300	46	35412											
GPD1	2819	hgsc.bcm.edu	37	12	50503242	50503242	+	Nonsense_Mutation	SNP	C	C	G	rs116736822	byFrequency	TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr12:50503242C>G	ENST00000301149.3	+	8	1222	c.990C>G	c.(988-990)taC>taG	p.Y330*	COX14_ENST00000317943.2_5'Flank|GPD1_ENST00000548814.1_Nonsense_Mutation_p.Y307*|COX14_ENST00000550487.1_5'Flank|COX14_ENST00000550654.1_5'Flank|COX14_ENST00000548985.1_5'Flank|RP4-605O3.4_ENST00000552815.1_RNA	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	330					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AGGTGTGCTACGAGGGCCAGC	0.577																																					NSCLC(141;1402 1905 9497 13391 44868)											0													139	108	118					12																	50503242		2203	4300	6503	SO:0001587	stop_gained	2819				CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.990C>G	chr12.hg19:g.50503242C>G	ENSP00000301149:p.Tyr330*		F8W1L5|Q8N1B0	Nonsense_Mutation	SNP	ENST00000301149.3	hg19	CCDS8799.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796601	0.90453	.	.	ENSG00000167588	ENST00000301149;ENST00000548814	.	.	.	4.99	-5.7	0.02421	.	0.125588	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4578	14.9665	0.71198	0.0:0.6296:0.0:0.3704	.	.	.	.	X	330;307	.	ENSP00000301149:Y330X	Y	+	3	2	GPD1	48789509	0.008000	0.16893	0.884000	0.34674	0.899000	0.52679	-0.879000	0.04188	-1.358000	0.02177	-0.379000	0.06801	TAC		0.577	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			G	50503242	C	G	50503242	4	3	651	1	0	0	0	0	0	1	0	0	6606	547	19	4	1020	4	GPD1	12	50503242	Nonsense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	22693647	50503242	83348653	47	35413											
KRT76	51350	hgsc.bcm.edu	37	12	53170736	53170736	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr12:53170736delT	ENST00000332411.2	-	1	393	c.340delA	c.(340-342)agtfs	p.S114fs		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	114	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ccaaaaccactacctactcct	0.607																																																0													268	276	273					12																	53170736		2203	4299	6502	SO:0001589	frameshift_variant	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.340delA	chr12.hg19:g.53170736delT	ENSP00000330101:p.Ser114fs		B4DRR3|Q7Z795	Frame_Shift_Del	DEL	ENST00000332411.2	hg19	CCDS8838.1																																																																																				0.607	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		-	53170736	T	-	53170736	7	5	651	1	0	1	0	1	0	0	0	0	8491	1522	53	0	1612	0	KRT76	12	53170736	Frame_Shift_Del	DEL	T	TCGA-G7-6797-01A-11D-1961-08	2667494	53170736	80681159	48	35414											
LRIG3	121227	hgsc.bcm.edu	37	12	59271290	59271290	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr12:59271290C>A	ENST00000320743.3	-	15	2714	c.2428G>T	c.(2428-2430)Gtc>Ttc	p.V810F	LRIG3_ENST00000379141.4_Missense_Mutation_p.V750F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	810					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATGATCACGACACCCACAGTG	0.562			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													212	121	152					12																	59271290		2203	4300	6503	SO:0001583	missense	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2428G>T	chr12.hg19:g.59271290C>A	ENSP00000326759:p.Val810Phe		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	hg19	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675366	0.47781	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.61040	0.18;0.14	5.59	3.74	0.42951	.	0.494270	0.15041	N	0.283853	T	0.47414	0.1444	L	0.47716	1.5	0.39938	D	0.974378	P;P	0.39665	0.682;0.624	B;B	0.37508	0.252;0.154	T	0.36212	-0.9757	9	.	.	.	.	8.2502	0.31712	0.0:0.6658:0.0:0.3342	.	750;810	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	F	750;810	ENSP00000368436:V750F;ENSP00000326759:V810F	.	V	-	1	0	LRIG3	57557557	1.000000	0.71417	0.987000	0.45799	0.819000	0.46315	2.549000	0.45803	0.796000	0.33947	0.655000	0.94253	GTC		0.562	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		A	59271290	C	A	59271290	3	1	651	1	0	0	0	0	1	0	0	0	8948	478	17	4	951	4	LRIG3	12	59271290	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	6100554	59271290	74580605	49	35415											
PLXNC1	10154	hgsc.bcm.edu	37	12	94613897	94613897	+	Silent	SNP	C	C	A	rs146510015		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr12:94613897C>A	ENST00000258526.4	+	6	1909	c.1660C>A	c.(1660-1662)Cgg>Agg	p.R554R		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	554					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.R554R(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAGCCCAACCGGACCTGCAC	0.458																																																2	Substitution - coding silent(2)	lung(2)											147	156	153					12																	94613897		2203	4300	6503	SO:0001819	synonymous_variant	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1660C>A	chr12.hg19:g.94613897C>A			Q59H25	Silent	SNP	ENST00000258526.4	hg19	CCDS9049.1																																																																																				0.458	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			A	94613897	C	A	94613897	2	1	651	1	0	0	0	0	0	0	0	1	12128	643	23	4		4	PLXNC1	12	94613897	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08	35342607	94613897	39237998	50	35416											
ANKRD13A	88455	hgsc.bcm.edu	37	12	110457067	110457067	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr12:110457067T>C	ENST00000261739.4	+	6	834	c.668T>C	c.(667-669)gTt>gCt	p.V223A	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	223						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AGCAGGGAAGTTGAGCGGCGG	0.438																																																0													76	76	76					12																	110457067		2203	4300	6503	SO:0001583	missense	88455			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"Ankyrin repeat domain containing"	21268	protein-coding gene	gene with protein product		615123	"ankyrin repeat domain 13"	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.668T>C	chr12.hg19:g.110457067T>C	ENSP00000261739:p.Val223Ala		O60736	Missense_Mutation	SNP	ENST00000261739.4	hg19	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543716	0.65198	.	.	ENSG00000076513	ENST00000261738;ENST00000261739	T	0.65364	-0.15	5.83	5.83	0.93111	.	0.052948	0.85682	D	0.000000	T	0.73567	0.3603	M	0.72894	2.215	0.80722	D	1	D;D;D	0.56746	0.977;0.977;0.977	P;P;P	0.55011	0.766;0.766;0.766	T	0.77107	-0.2710	10	0.72032	D	0.01	-13.8298	15.3732	0.74584	0.0:0.0:0.0:1.0	.	223;223;223	B4DYP5;Q3ZTS7;Q8IZ07	.;.;AN13A_HUMAN	A	8;223	ENSP00000261739:V223A	ENSP00000261738:V8A	V	+	2	0	ANKRD13A	108941450	1.000000	0.71417	0.945000	0.38365	0.982000	0.71751	6.241000	0.72369	2.229000	0.72834	0.482000	0.46254	GTT		0.438	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		C	110457067	T	C	110457067	3	2	651	1	0	0	0	0	1	0	0	0	641	1725	60	3	690	3	ANKRD13A	12	110457067	Missense_Mutation	SNP	T	TCGA-G7-6797-01A-11D-1961-08	15843170	110457067	23394828	51	35417											
SBNO1	55206	hgsc.bcm.edu	37	12	123780521	123780521	+	Silent	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr12:123780521C>A	ENST00000602398.1	-	32	4243	c.4116G>T	c.(4114-4116)gcG>gcT	p.A1372A	SBNO1_ENST00000420886.2_Silent_p.A1372A|SBNO1_ENST00000602750.1_Silent_p.A1371A|SBNO1_ENST00000267176.4_Silent_p.A1371A			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371A(1)		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)		TCTGTTGGACCGCAAGCTGTT	0.428																																																1	Substitution - coding silent(1)	lung(1)											350	312	325					12																	123780521		2203	4300	6503	SO:0001819	synonymous_variant	55206			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.4116G>T	chr12.hg19:g.123780521C>A			Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	hg19	CCDS53844.1																																																																																				0.428	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		A	123780521	C	A	123780521	2	1	651	1	0	0	0	0	0	0	0	1	13868	639	23	4		4	SBNO1	12	123780521	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08	13323454	123780521	10071374	52	35418											
C14orf101	54916	hgsc.bcm.edu	37	14	57075923	57075923	+	Silent	SNP	C	C	A	rs140983222		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr14:57075923C>A	ENST00000261556.6	+	6	858	c.736C>A	c.(736-738)Cgg>Agg	p.R246R	TMEM260_ENST00000538838.1_Silent_p.R246R|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	246						integral component of membrane (GO:0016021)											TAATCACGCCCGGTGGACCTG	0.483																																																0													207	199	202					14																	57075923		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.736C>A	chr14.hg19:g.57075923C>A			A8KAN4|B3KPF5|Q86XE1	Silent	SNP	ENST00000261556.6	hg19	CCDS9727.2																																																																																				0.483	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		A	57075923	C	A	57075923	2	1	651	1	0	0	0	0	0	0	0	1	1736	643	23	4		4	C14orf101	14	57075923	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08		57075923	50273617	53	35419											
SIX4	51804	hgsc.bcm.edu	37	14	61190290	61190290	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr14:61190290A>C	ENST00000216513.4	-	1	562	c.503T>G	c.(502-504)aTc>aGc	p.I168S		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	168					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GCTCTCGAGGATGCTGTAGAG	0.692																																																0													13	14	14					14																	61190290		2190	4286	6476	SO:0001583	missense	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.503T>G	chr14.hg19:g.61190290A>C	ENSP00000216513:p.Ile168Ser		Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	hg19	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	A	19.26	3.793861	0.70452	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.94046	-3.34	3.63	3.63	0.41609	.	0.265948	0.36591	N	0.002504	D	0.93086	0.7799	M	0.70842	2.15	0.58432	D	0.999997	P;D	0.53312	0.84;0.959	P;P	0.47346	0.537;0.544	D	0.93446	0.6798	10	0.87932	D	0	.	12.4167	0.55498	1.0:0.0:0.0:0.0	.	160;168	G3V2N2;Q9UIU6	.;SIX4_HUMAN	S	168;160	ENSP00000216513:I168S	ENSP00000216513:I168S	I	-	2	0	SIX4	60260043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.828000	0.92047	1.508000	0.48769	0.528000	0.53228	ATC		0.692	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			C	61190290	A	C	61190290	3	2	651	1	0	0	0	0	1	0	0	0	14355	333	12	5	1854	5	SIX4	14	61190290	Missense_Mutation	SNP	A	TCGA-G7-6797-01A-11D-1961-08	4114367	61190290	46159250	54	35420											
IREB2	3658	hgsc.bcm.edu	37	15	78765688	78765688	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr15:78765688G>A	ENST00000258886.8	+	8	1137	c.988G>A	c.(988-990)Gtt>Att	p.V330I	IREB2_ENST00000560440.1_Missense_Mutation_p.V330I	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	330					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAACCCTTTTGTTACATCCAT	0.373																																					NSCLC(200;764 2208 35157 49871 50830)											0													223	207	212					15																	78765688		2196	4293	6489	SO:0001583	missense	3658			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.988G>A	chr15.hg19:g.78765688G>A	ENSP00000258886:p.Val330Ile		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	hg19	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689480	0.48097	.	.	ENSG00000136381	ENST00000258886	T	0.23754	1.89	5.93	5.93	0.95920	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.252836	0.46442	D	0.000283	T	0.24928	0.0605	L	0.43646	1.37	0.27813	N	0.942089	B;B	0.20164	0.003;0.042	B;B	0.23150	0.032;0.044	T	0.26744	-1.0094	10	0.07813	T	0.8	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	330;330	P48200;Q8WVK6	IREB2_HUMAN;.	I	330	ENSP00000258886:V330I	ENSP00000258886:V330I	V	+	1	0	IREB2	76552743	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.095000	0.64529	2.818000	0.97014	0.591000	0.81541	GTT		0.373	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		A	78765688	G	A	78765688	3	1	651	1	0	0	0	0	1	0	0	0	7828	1377	48	2	1018	2	IREB2	15	78765688	Missense_Mutation	SNP	G	TCGA-G7-6797-01A-11D-1961-08		78765688	23765704	55	35421											
STX4	6810	hgsc.bcm.edu	37	16	31046334	31046334	+	Silent	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr16:31046334C>A	ENST00000313843.3	+	5	666	c.351C>A	c.(349-351)tcC>tcA	p.S117S	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Silent_p.S115S	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	117					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						ACTATAACTCCGTCAACACAA	0.423																																																0													78	85	83					16																	31046334		2197	4300	6497	SO:0001819	synonymous_variant	6810			AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"syntaxin 4A (placental)"	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.351C>A	chr16.hg19:g.31046334C>A			A8MXY0|Q15525|Q6FHE8	Silent	SNP	ENST00000313843.3	hg19	CCDS10700.1																																																																																				0.423	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		A	31046334	C	A	31046334	2	1	651	1	0	0	0	0	0	0	0	1	15352	639	23	4		4	STX4	16	31046334	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08		31046334	59308419	56	35422											
CES3	23491	hgsc.bcm.edu	37	16	67000741	67000741	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr16:67000741C>A	ENST00000303334.4	+	8	1106	c.1035C>A	c.(1033-1035)aaC>aaA	p.N345K	CES3_ENST00000394037.1_Missense_Mutation_p.N345K|CES3_ENST00000543856.1_5'Flank	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	345						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GTGTCAACAACCATGAGTTCA	0.582																																																0													134	131	132					16																	67000741		2200	4300	6500	SO:0001583	missense	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1035C>A	chr16.hg19:g.67000741C>A	ENSP00000304782:p.Asn345Lys		B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	hg19	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991536	0.35131	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.65549	-0.16;-0.16	3.97	-2.89	0.05665	Carboxylesterase, type B (1);	0.000000	0.43579	D	0.000560	T	0.40862	0.1134	N	0.20610	0.595	0.80722	D	1	P	0.37207	0.587	B	0.41174	0.349	T	0.33650	-0.9860	10	0.08179	T	0.78	.	11.2659	0.49110	0.0:0.6915:0.0:0.3085	.	345	Q6UWW8	EST3_HUMAN	K	345	ENSP00000304782:N345K;ENSP00000377602:N345K	ENSP00000304782:N345K	N	+	3	2	CES3	65558242	0.304000	0.24472	0.647000	0.29507	0.123000	0.20343	-0.234000	0.09028	-0.385000	0.07833	-0.809000	0.03173	AAC		0.582	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		A	67000741	C	A	67000741	3	1	651	1	0	0	0	0	1	0	0	0	3273	506	18	4	1065	4	CES3	16	67000741	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	35954407	67000741	23354012	57	35423											
FAM65A	79567	hgsc.bcm.edu	37	16	67576026	67576026	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr16:67576026G>A	ENST00000379312.3	+	13	1470	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	FAM65A_ENST00000422602.2_Missense_Mutation_p.R466Q|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.R446Q|FAM65A_ENST00000540839.3_Missense_Mutation_p.R466Q|CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.R460Q	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	450						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCTACAGTCGGACTCTGAGC	0.632																																																0													75	71	72					16																	67576026		2198	4300	6498	SO:0001583	missense	79567			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1349G>A	chr16.hg19:g.67576026G>A	ENSP00000368614:p.Arg450Gln		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	hg19	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517558	0.85495	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.32753	1.44;1.44;1.44	4.62	4.62	0.57501	.	0.467258	0.23181	N	0.051009	T	0.50137	0.1598	L	0.57536	1.79	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.39187	-0.9626	10	0.14252	T	0.57	-16.318	17.523	0.87792	0.0:0.0:1.0:0.0	.	460;466;450;466	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	Q	450;446;466;460	ENSP00000368614:R450Q;ENSP00000042381:R446Q;ENSP00000400099:R466Q	ENSP00000042381:R446Q	R	+	2	0	FAM65A	66133527	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.569000	0.82380	2.149000	0.67028	0.442000	0.29010	CGG		0.632	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		A	67576026	G	A	67576026	3	1	651	1	0	0	0	0	1	0	0	0	5601	1116	39	1	1383	1	FAM65A	16	67576026	Missense_Mutation	SNP	G	TCGA-G7-6797-01A-11D-1961-08	575285	67576026	22778727	58	35424											
CHMP1A	5119	hgsc.bcm.edu	37	16	89717999	89717999	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr16:89717999G>C	ENST00000397901.3	-	3	339	c.83C>G	c.(82-84)gCg>gGg	p.A28G	CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000550102.1_Missense_Mutation_p.A28G|CHMP1A_ENST00000253475.5_Silent_p.G21G|CHMP1A_ENST00000535997.2_5'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	28					cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCCTGCTCCGCCTTGGAGTC	0.572																																																0													76	85	82					16																	89717999		2034	4180	6214	SO:0001583	missense	5119			U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"Charged multivesicular body proteins"	8740	protein-coding gene	gene with protein product		164010	"procollagen (type III) N-endopeptidase", "chromatin modifying protein 1A"	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.83C>G	chr16.hg19:g.89717999G>C	ENSP00000380998:p.Ala28Gly		A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	ENST00000397901.3	hg19	CCDS45552.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467907	0.43839	.	.	ENSG00000131165	ENST00000397901;ENST00000550102	T;T	0.72505	-0.66;-0.66	4.81	2.69	0.31865	.	.	.	.	.	T	0.55768	0.1941	.	.	.	0.80722	D	1	B	0.15141	0.012	B	0.23419	0.046	T	0.46233	-0.9206	7	.	.	.	-3.1301	9.7579	0.40515	0.0779:0.141:0.7812:0.0	.	28	Q9HD42	CHM1A_HUMAN	G	28	ENSP00000380998:A28G;ENSP00000449243:A28G	.	A	-	2	0	CHMP1A	88245500	1.000000	0.71417	0.633000	0.29310	0.764000	0.43329	5.816000	0.69222	1.132000	0.42129	0.655000	0.94253	GCG		0.572	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		C	89717999	G	C	89717999	3	2	651	1	0	0	0	0	1	0	0	0	3354	1087	38	4	679	4	CHMP1A	16	89717999	Missense_Mutation	SNP	G	TCGA-G7-6797-01A-11D-1961-08	22141973	89717999	636754	59	35425											
FANCA	2175	hgsc.bcm.edu	37	16	89874755	89874755	+	Silent	SNP	C	C	A	rs143314367		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr16:89874755C>A	ENST00000389301.3	-	6	573	c.543G>T	c.(541-543)gcG>gcT	p.A181A	FANCA_ENST00000389302.3_Silent_p.A181A|FANCA_ENST00000534992.1_Silent_p.A181A|FANCA_ENST00000563673.1_Silent_p.A181A|FANCA_ENST00000568369.1_Silent_p.A181A|FANCA_ENST00000543736.1_Silent_p.A149A	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	181			A -> V (in FA; dbSNP:rs17232246).		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A181A(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GATGCCACACCGCTTCAAGCA	0.403			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	1	Substitution - coding silent(1)	lung(1)											144	135	138					16																	89874755		2198	4300	6498	SO:0001819	synonymous_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.543G>T	chr16.hg19:g.89874755C>A			A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	hg19	CCDS32515.1																																																																																				0.403	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			A	89874755	C	A	89874755	2	1	651	1	0	0	0	0	0	0	0	1	5664	639	23	4		4	FANCA	16	89874755	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08	156756	89874755	479998	60	35426											
SPAG5	10615	hgsc.bcm.edu	37	17	26911492	26911492	+	Missense_Mutation	SNP	C	C	A	rs140086700		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr17:26911492C>A	ENST00000321765.5	-	12	2500	c.2168G>T	c.(2167-2169)cGg>cTg	p.R723L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	723	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CAACTGAGCCCGGAGATCTAG	0.493																																																0													147	139	142					17																	26911492		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2168G>T	chr17.hg19:g.26911492C>A	ENSP00000323300:p.Arg723Leu		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	hg19	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103948	0.37145	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	6.02	-4.11	0.03928	.	1.207820	0.05827	N	0.616907	T	0.19685	0.0473	N	0.14661	0.345	0.18873	N	0.999981	B	0.31193	0.312	B	0.26094	0.066	T	0.27123	-1.0083	9	0.62326	D	0.03	0.4992	8.2083	0.31469	0.0:0.5014:0.1246:0.374	.	723	Q96R06	SPAG5_HUMAN	L	723;220	.	ENSP00000323300:R723L	R	-	2	0	SPAG5	23935619	0.000000	0.05858	0.772000	0.31596	0.996000	0.88848	-2.533000	0.00942	-0.956000	0.03631	0.650000	0.86243	CGG		0.493	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		A	26911492	C	A	26911492	3	1	651	1	0	0	0	0	1	0	0	0	14987	652	23	4	1465	4	SPAG5	17	26911492	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08		26911492	54283718	61	35427											
ZNF207	7756	hgsc.bcm.edu	37	17	30696350	30696350	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr17:30696350A>T	ENST00000321233.6	+	10	1307	c.1153A>T	c.(1153-1155)Aat>Tat	p.N385Y	ZNF207_ENST00000394673.2_Missense_Mutation_p.N370Y|ZNF207_ENST00000342555.6_Missense_Mutation_p.N404Y|ZNF207_ENST00000577908.1_Missense_Mutation_p.N401Y|ZNF207_ENST00000341711.6_Missense_Mutation_p.N302Y|ZNF207_ENST00000394670.4_Missense_Mutation_p.N401Y	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	385	GLEBS.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GTATCAACGTAATCTTCCTCG	0.502																																																0													102	101	101					17																	30696350		2203	4300	6503	SO:0001583	missense	7756			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1153A>T	chr17.hg19:g.30696350A>T	ENSP00000322777:p.Asn385Tyr		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	hg19	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.710294	0.48517	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.47177	0.87;0.85	5.55	5.55	0.83447	.	0.143629	0.64402	D	0.000010	T	0.60209	0.2251	L	0.40543	1.245	0.48762	D	0.999708	D;D;D;P;D	0.76494	0.972;0.972;0.972;0.924;0.999	P;P;P;P;D	0.83275	0.6;0.6;0.6;0.461;0.996	T	0.58137	-0.7689	10	0.37606	T	0.19	.	15.7019	0.77549	1.0:0.0:0.0:0.0	.	354;404;401;370;385	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	Y	401;354;404;370;302;385	ENSP00000378165:N401Y;ENSP00000344913:N302Y	ENSP00000322777:N370Y	N	+	1	0	ZNF207	27720463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.566000	0.67372	2.108000	0.64289	0.477000	0.44152	AAT		0.502	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			T	30696350	A	T	30696350	3	4	651	1	0	0	0	0	1	0	0	0	17770	362	13	5	1243	5	ZNF207	17	30696350	Missense_Mutation	SNP	A	TCGA-G7-6797-01A-11D-1961-08	3784858	30696350	50498860	62	35428											
PPM1D	8493	hgsc.bcm.edu	37	17	58740837	58740837	+	Missense_Mutation	SNP	G	G	A	rs200809297		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr17:58740837G>A	ENST00000305921.3	+	6	1974	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	581					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			CTCACCATGCGACGCAGACTT	0.443											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																				0													85	82	83					17																	58740837		2203	4300	6503	SO:0001583	missense	8493			U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1742G>A	chr17.hg19:g.58740837G>A	ENSP00000306682:p.Arg581Gln	1033	Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	ENST00000305921.3	hg19	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564808	0.86439	.	.	ENSG00000170836	ENST00000305921	T	0.61158	0.13	5.98	5.01	0.66863	.	0.278410	0.34268	N	0.004118	T	0.66157	0.2761	L	0.34521	1.04	0.40466	D	0.980292	D	0.89917	1.0	D	0.63957	0.92	T	0.71721	-0.4507	10	0.87932	D	0	-2.6262	17.3117	0.87212	0.0:0.1253:0.8747:0.0	.	581	O15297	PPM1D_HUMAN	Q	581	ENSP00000306682:R581Q	ENSP00000306682:R581Q	R	+	2	0	PPM1D	56095619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.144000	0.77357	1.522000	0.49001	0.591000	0.81541	CGA		0.443	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		A	58740837	G	A	58740837	3	1	651	1	0	0	0	0	1	0	0	0	12342	1058	37	1	1764	1	PPM1D	17	58740837	Missense_Mutation	SNP	G	TCGA-G7-6797-01A-11D-1961-08	28044487	58740837	22454373	63	35429											
ANKRD12	23253	hgsc.bcm.edu	37	18	9275635	9275635	+	Silent	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr18:9275635C>A	ENST00000262126.4	+	11	6117	c.5877C>A	c.(5875-5877)gcC>gcA	p.A1959A	ANKRD12_ENST00000400020.3_Silent_p.A1936A|ANKRD12_ENST00000383440.2_Silent_p.A1936A|snoU13_ENST00000459594.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1959						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGCTGGATGCCGAAGTATACA	0.363																																																0													163	148	153					18																	9275635		2203	4300	6503	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5877C>A	chr18.hg19:g.9275635C>A			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	hg19	CCDS11843.1																																																																																				0.363	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		A	9275635	C	A	9275635	2	1	651	1	0	0	0	0	0	0	0	1	640	639	23	4		4	ANKRD12	18	9275635	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08		9275635	68801613	64	35430											
SMAD7	4092	hgsc.bcm.edu	37	18	46447887	46447887	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr18:46447887C>T	ENST00000262158.2	-	4	1422	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	SMAD7_ENST00000591805.1_Missense_Mutation_p.R164Q|SMAD7_ENST00000589634.1_Missense_Mutation_p.R378Q|SMAD7_ENST00000585986.1_5'UTR	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	379	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GTCATTGGGCCGCTGCAGGCT	0.582																																																0													90	77	81					18																	46447887		2203	4300	6503	SO:0001583	missense	4092			AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.1136G>A	chr18.hg19:g.46447887C>T	ENSP00000262158:p.Arg379Gln		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	hg19	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380052	0.82682	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.98792	-5.14	5.66	5.66	0.87406	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	N	0.05330	-0.07	0.80722	D	1	P;D	0.71674	0.68;0.998	B;D	0.79108	0.19;0.992	D	0.97332	0.9951	10	0.23891	T	0.37	.	19.7417	0.96234	0.0:1.0:0.0:0.0	.	379;191	O15105;B3KYA8	SMAD7_HUMAN;.	Q	164;379	ENSP00000262158:R379Q	ENSP00000262158:R379Q	R	-	2	0	SMAD7	44701885	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.972000	0.63756	2.658000	0.90341	0.591000	0.81541	CGG		0.582	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		T	46447887	C	T	46447887	3	4	651	1	0	0	0	0	1	0	0	0	14769	652	23	1	148	1	SMAD7	18	46447887	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	37172252	46447887	31629361	65	35431											
SALL3	27164	hgsc.bcm.edu	37	18	76755171	76755171	+	Missense_Mutation	SNP	G	G	C	rs371088522		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr18:76755171G>C	ENST00000537592.2	+	2	3180	c.3180G>C	c.(3178-3180)atG>atC	p.M1060I	SALL3_ENST00000536229.3_Missense_Mutation_p.M855I|SALL3_ENST00000575389.2_Missense_Mutation_p.M988I	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1060					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACCCACCATGATCAAAATGG	0.612																																																0													64	64	64					18																	76755171		2203	4300	6503	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3180G>C	chr18.hg19:g.76755171G>C	ENSP00000441823:p.Met1060Ile		Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	hg19	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	9.680	1.148949	0.21288	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08370	3.1	5.1	3.24	0.37175	.	0.285135	0.29362	N	0.012368	T	0.07007	0.0178	N	0.20986	0.625	0.43617	D	0.995995	B;B	0.20887	0.002;0.049	B;B	0.14023	0.002;0.01	T	0.23084	-1.0198	10	0.35671	T	0.21	-20.2151	15.0906	0.72192	0.0:0.2696:0.7304:0.0	.	720;1060	F5GXY4;Q9BXA9	.;SALL3_HUMAN	I	1060;988;720	ENSP00000441823:M1060I	ENSP00000299466:M1060I	M	+	3	0	SALL3	74856159	1.000000	0.71417	0.871000	0.34182	0.073000	0.16967	3.010000	0.49559	0.505000	0.28104	0.561000	0.74099	ATG		0.612	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		C	76755171	G	C	76755171	3	2	651	1	0	0	0	0	1	0	0	0	13818	1290	45	4	3186	4	SALL3	18	76755171	Missense_Mutation	SNP	G	TCGA-G7-6797-01A-11D-1961-08	30307284	76755171	1322077	66	35432											
KCNN1	3780	hgsc.bcm.edu	37	19	18100536	18100536	+	Silent	SNP	C	C	A	rs377567043		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr19:18100536C>A	ENST00000222249.9	+	8	1501	c.1182C>A	c.(1180-1182)gcC>gcA	p.A394A		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	394	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	TAAAAAACGCCGCTGCTAACG	0.502																																																0													143	141	142					19																	18100536		1895	4132	6027	SO:0001819	synonymous_variant	3780			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1182C>A	chr19.hg19:g.18100536C>A			Q5KR10|Q6DJU4	Silent	SNP	ENST00000222249.9	hg19																																																																																					0.502	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		A	18100536	C	A	18100536	2	1	651	1	0	0	0	0	0	0	0	1	8080	639	23	4		4	KCNN1	19	18100536	Silent	SNP	C	TCGA-G7-6797-01A-11D-1961-08		18100536	41028447	67	35433											
GATAD2A	54815	hgsc.bcm.edu	37	19	19613195	19613195	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr19:19613195C>T	ENST00000360315.3	+	11	1943	c.1631C>T	c.(1630-1632)aCg>aTg	p.T544M	GATAD2A_ENST00000358713.3_Missense_Mutation_p.T544M|GATAD2A_ENST00000429563.2_Missense_Mutation_p.T347M|GATAD2A_ENST00000537887.1_Missense_Mutation_p.T173M|GATAD2A_ENST00000252577.5_Missense_Mutation_p.T519M|GATAD2A_ENST00000404158.1_Missense_Mutation_p.T545M	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	544					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GTCCTGCACACGTTCAGTCCG	0.647																																																0													76	79	78					19																	19613195		2203	4300	6503	SO:0001583	missense	54815			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1631C>T	chr19.hg19:g.19613195C>T	ENSP00000353463:p.Thr544Met		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	hg19	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160141	0.57368	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.45668	1.43;1.48;1.43;0.89	5.23	5.23	0.72850	.	0.357947	0.31872	N	0.006930	T	0.56202	0.1969	L	0.47716	1.5	0.38138	D	0.938352	D;D;D	0.89917	0.994;0.998;1.0	P;P;P	0.61592	0.628;0.794;0.891	T	0.62248	-0.6894	10	0.72032	D	0.01	-26.0515	17.4151	0.87497	0.0:1.0:0.0:0.0	.	347;564;544	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	M	544;519;173;564;544;347	ENSP00000353463:T544M;ENSP00000252577:T519M;ENSP00000351552:T544M;ENSP00000388416:T347M	ENSP00000252577:T519M	T	+	2	0	GATAD2A	19474195	1.000000	0.71417	0.929000	0.37066	0.486000	0.33341	4.956000	0.63645	2.452000	0.82932	0.585000	0.79938	ACG		0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		T	19613195	C	T	19613195	3	4	651	1	0	0	0	0	1	0	0	0	6262	536	19	1	1669	1	GATAD2A	19	19613195	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	1512659	19613195	39515788	68	35434											
ZNF573	126231	hgsc.bcm.edu	37	19	38230139	38230140	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr19:38230139_38230140CC>AA	ENST00000590414.2	-	4	1272_1273	c.1251_1252GG>TT	c.(1249-1254)aaGGaa>aaTTaa	p.417_418KE>N*	ZNF573_ENST00000392138.1_Nonsense_Mutation_p.330_331KE>N*|ZNF573_ENST00000339503.4_Nonsense_Mutation_p.359_360KE>N*|ZNF573_ENST00000536220.1_Nonsense_Mutation_p.329_330KE>N*|ZNF573_ENST00000357309.3_Nonsense_Mutation_p.329_330KE>N*			Q86YE8	ZN573_HUMAN	zinc finger protein 573	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTCCGCATTCCTTGCATTCAT	0.376																																																0																																										SO:0001587	stop_gained	126231			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1251_1252delinsAA	chr19.hg19:g.38230139_38230140delinsAA	ENSP00000465020:p.K417_E418delinsN*		B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000590414.2	hg19	CCDS59381.1																																																																																				0.376	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		AA	38230140	CC	AA	38230139	4	1	651	1	0	0	0	0	0	1	0	0	18010	864	30	4	749	4	ZNF573	19	38230139	Nonsense_Mutation	DNP	CC	TCGA-G7-6797-01A-11D-1961-08	18616944	38230139	20898844	69	35435											
PRR12	57479	hgsc.bcm.edu	37	19	50097991	50097991	+	Silent	SNP	G	G	C	rs527711314		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr19:50097991G>C	ENST00000418929.2	+	4	411	c.399G>C	c.(397-399)tcG>tcC	p.S133S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCTTCATCTCGGGTGCCCTGC	0.662																																																0													27	32	31					19																	50097991		2036	4191	6227	SO:0001819	synonymous_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.399G>C	chr19.hg19:g.50097991G>C			E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	hg19	CCDS46143.1																																																																																				0.662	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		C	50097991	G	C	50097991	2	2	651	1	0	0	0	0	0	0	0	1	12589	1103	39	4		4	PRR12	19	50097991	Silent	SNP	G	TCGA-G7-6797-01A-11D-1961-08	11867852	50097991	9030992	70	35436											
NSFL1C	55968	hgsc.bcm.edu	37	20	1433207	1433207	+	Missense_Mutation	SNP	C	C	A	rs371393612		TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr20:1433207C>A	ENST00000216879.4	-	7	1583	c.716G>T	c.(715-717)cGg>cTg	p.R239L	NSFL1C_ENST00000350991.4_Missense_Mutation_p.R241L|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R241L|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R208L|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R128L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	239	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R239Q(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GTCCTCGTCCCGATGGTCCTC	0.572																																																1	Substitution - Missense(1)	large_intestine(1)											179	159	166					20																	1433207		2203	4300	6503	SO:0001583	missense	55968			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.716G>T	chr20.hg19:g.1433207C>A	ENSP00000216879:p.Arg239Leu		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	hg19	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	35	5.461733	0.96240	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.50277	0.75;0.78;0.78;0.78;0.79	5.13	5.13	0.70059	SEP domain (4);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.66506	2.035	0.80722	D	1	D;D;D	0.67145	0.996;0.989;0.991	D;D;D	0.80764	0.992;0.99;0.994	T	0.69363	-0.5165	10	0.72032	D	0.01	-15.8878	17.2951	0.87168	0.0:1.0:0.0:0.0	.	208;128;239	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	L	208;241;239;128;241	ENSP00000338643:R208L;ENSP00000418529:R241L;ENSP00000216879:R239L;ENSP00000371074:R128L;ENSP00000202584:R241L	ENSP00000216879:R239L	R	-	2	0	NSFL1C	1381207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.754000	0.62191	2.824000	0.97209	0.655000	0.94253	CGG		0.572	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		A	1433207	C	A	1433207	3	1	651	1	0	0	0	0	1	0	0	0	10674	652	23	4	408	4	NSFL1C	20	1433207	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08		1433207	61592313	71	35437											
FAM113A	64773	hgsc.bcm.edu	37	20	2819363	2819363	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr20:2819363C>A	ENST00000360652.2	-	5	975	c.473G>T	c.(472-474)cGg>cTg	p.R158L	VPS16_ENST00000380469.3_5'Flank|VPS16_ENST00000380445.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.R107L	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	158																	CAGGTTCTCCCGGTAGCTCTC	0.582																																																0													172	154	160					20																	2819363		2203	4300	6503	SO:0001583	missense	64773			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.473G>T	chr20.hg19:g.2819363C>A	ENSP00000353868:p.Arg158Leu		Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	hg19	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.844032	0.32606	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	3.89	2.93	0.34026	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.151472	0.40908	D	0.000997	T	0.10723	0.0262	N	0.13235	0.315	0.39966	D	0.974729	B;B	0.24426	0.031;0.103	B;B	0.24701	0.034;0.055	T	0.12192	-1.0557	10	0.33141	T	0.24	-7.013	6.7152	0.23300	0.0:0.872:0.0:0.128	.	107;158	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	L	107;158;107;158	ENSP00000349334:R107L;ENSP00000353868:R158L;ENSP00000388935:R107L;ENSP00000401711:R158L	ENSP00000349334:R107L	R	-	2	0	FAM113A	2767363	0.494000	0.26043	0.922000	0.36590	0.442000	0.32017	0.684000	0.25364	2.205000	0.71048	0.462000	0.41574	CGG		0.582	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		A	2819363	C	A	2819363	3	1	651	1	0	0	0	0	1	0	0	0	5403	652	23	4	907	4	FAM113A	20	2819363	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08	1386156	2819363	60206157	72	35438											
NF2	4771	hgsc.bcm.edu	37	22	30051666	30051666	+	Splice_Site	SNP	G	G	A			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chr22:30051666G>A	ENST00000338641.4	+	6	1040		c.e6+1		NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000347330.5_Intron|NF2_ENST00000334961.7_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(5)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GCCGAGCCAGGTGAGGCCCAT	0.408			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	5	Unknown(5)	meninges(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	GRCh37	CS951487	NF2	S							83	87	85					22																	30051666		2203	4300	6503	SO:0001630	splice_region_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.599+1G>A	chr22.hg19:g.30051666G>A			O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	hg19	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954606	0.92726	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.036	0.92978	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28381666	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.653000	0.98506	2.484000	0.83849	0.555000	0.69702	.		0.408	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	A	30051666	G	A	30051666	5	1	651	1	0	0	0	0	0	0	1	0	10359	1275	44	2	622	2	NF2	22	30051666	Splice_Site	SNP	G	TCGA-G7-6797-01A-11D-1961-08		30051666	21252900	73	35439											
NXF3	56000	hgsc.bcm.edu	37	X	102337711	102337711	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chrX:102337711C>T	ENST00000395065.3	-	8	858	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.V164I	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	253					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCTTCATGGACGTCCAGGGAG	0.478																																																0													174	145	154					X																	102337711		2203	4300	6503	SO:0001583	missense	56000			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.757G>A	chrX.hg19:g.102337711C>T	ENSP00000378504:p.Val253Ile		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	hg19	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.019|0.019	-1.461864|-1.461864	0.01062|0.01062	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000427570|ENST00000395065;ENST00000425463	.|T;T	.|0.33865	.|1.39;1.39	3.64|3.64	1.2|1.2	0.21068|0.21068	.|.	.|0.308479	.|0.33364	.|N	.|0.004994	T|T	0.07638|0.07638	0.0192|0.0192	N|N	0.00686|0.00686	-1.255|-1.255	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.17852	.|0.024;0.011;0.004	.|B;B;B	.|0.10450	.|0.005;0.003;0.001	T|T	0.37314|0.37314	-0.9711|-0.9711	5|10	.|0.02654	.|T	.|1	-12.7344|-12.7344	4.8575|4.8575	0.13566|0.13566	0.0:0.2749:0.0:0.7251|0.0:0.2749:0.0:0.7251	.|.	.|253;149;253	.|B4DYI1;E9PEY7;Q9H4D5	.|.;.;NXF3_HUMAN	H|I	129|253;164	.|ENSP00000378504:V253I;ENSP00000404347:V164I	.|ENSP00000378504:V253I	R|V	-|-	2|1	0|0	NXF3|NXF3	102224367|102224367	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.923000|0.923000	0.28757|0.28757	0.139000|0.139000	0.18822|0.18822	-0.881000|-0.881000	0.02953|0.02953	CGT|GTC		0.478	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		T	102337711	C	T	102337711	3	4	651	1	0	0	0	0	1	0	0	0	10787	536	19	1	886	1	NXF3	23	102337711	Missense_Mutation	SNP	C	TCGA-G7-6797-01A-11D-1961-08		102337711	52932849	74	35440											
DOCK11	139818	hgsc.bcm.edu	37	X	117731503	117731503	+	Silent	SNP	A	A	T			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chrX:117731503A>T	ENST00000276202.7	+	21	2436	c.2373A>T	c.(2371-2373)gcA>gcT	p.A791A	DOCK11_ENST00000276204.6_Silent_p.A791A	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	791	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGAATGATGCAGAATCAAGAA	0.398																																																0													92	82	85					X																	117731503		2203	4300	6503	SO:0001819	synonymous_variant	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2373A>T	chrX.hg19:g.117731503A>T			A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	hg19	CCDS35373.1																																																																																				0.398	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		T	117731503	A	T	117731503	2	4	651	1	0	0	0	0	0	0	0	1	4688	175	7	5		5	DOCK11	23	117731503	Silent	SNP	A	TCGA-G7-6797-01A-11D-1961-08	15393792	117731503	37539057	75	35441											
KIAA1210	57481	hgsc.bcm.edu	37	X	118223094	118223094	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-6797-01A-11D-1961-08	TCGA-G7-6797-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	b1bd2e14-32b6-4c57-bad1-59c0591876c2	5df531ff-b58f-4f9b-8103-b154da29a87c	g.chrX:118223094A>G	ENST00000402510.2	-	11	2098	c.2099T>C	c.(2098-2100)aTc>aCc	p.I700T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	700										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCTAACTGGATATGAGAAGG	0.443																																																0													46	44	45					X																	118223094		1917	4125	6042	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2099T>C	chrX.hg19:g.118223094A>G	ENSP00000384670:p.Ile700Thr		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	hg19	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.939623	0.34189	.	.	ENSG00000250423	ENST00000402510	T	0.15952	2.38	4.42	-4.42	0.03579	.	.	.	.	.	T	0.07007	0.0178	N	0.24115	0.695	0.09310	N	1	B	0.28850	0.225	B	0.29176	0.099	T	0.40021	-0.9585	9	0.12103	T	0.63	.	0.4269	0.00465	0.264:0.1592:0.2924:0.2844	.	700	Q9ULL0	K1210_HUMAN	T	700	ENSP00000384670:I700T	ENSP00000384670:I700T	I	-	2	0	RP13-347D8.6	118107122	0.000000	0.05858	0.000000	0.03702	0.365000	0.29674	-1.161000	0.03144	-1.043000	0.03258	0.350000	0.21858	ATC		0.443	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		G	118223094	A	G	118223094	3	3	651	1	0	0	0	0	1	0	0	0	8216	333	12	3	3046	3	KIAA1210	23	118223094	Missense_Mutation	SNP	A	TCGA-G7-6797-01A-11D-1961-08	491591	118223094	37047466	76	35442											
C1orf173	127254	hgsc.bcm.edu	37	1	75114999	75114999	+	Splice_Site	SNP	C	C	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr1:75114999C>A	ENST00000326665.5	-	2	242	c.24G>T	c.(22-24)ggG>ggT	p.G8G		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		8										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGCAAGTAACCTAAAATACA	0.353																																																0													71	72	72					1																	75114999		2203	4300	6503	SO:0001630	splice_region_variant	127254																														ENST00000326665.5:c.24-1G>T	chr1.hg19:g.75114999C>A			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	hg19	CCDS30755.1																																																																																				0.353	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		Silent	A	75114999	C	A	75114999	5	1	652	1	0	0	0	0	0	0	1	0	2016	521	18	4	4620	4	C1orf173	1	75114999	Splice_Site	SNP	C	TCGA-G7-7501-01A-11D-2201-08		75114999	174135622	1	35443											
INTS3	65123	hgsc.bcm.edu	37	1	153736638	153736638	+	Silent	SNP	A	A	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr1:153736638A>G	ENST00000318967.2	+	18	2434	c.1866A>G	c.(1864-1866)ctA>ctG	p.L622L	INTS3_ENST00000456435.1_Silent_p.L416L|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Silent_p.L416L|INTS3_ENST00000435409.2_Silent_p.L622L	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	623					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTCCTGCCTACAGGAGCTCT	0.572																																																0													131	122	125					1																	153736638		2203	4300	6503	SO:0001819	synonymous_variant	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1866A>G	chr1.hg19:g.153736638A>G			A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	hg19	CCDS1052.1																																																																																				0.572	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		G	153736638	A	G	153736638	2	3	652	1	0	0	0	0	0	0	0	1	7781	378	14	3		3	INTS3	1	153736638	Silent	SNP	A	TCGA-G7-7501-01A-11D-2201-08	78621639	153736638	95513983	2	35444											
FAIM3	9214	hgsc.bcm.edu	37	1	207085119	207085119	+	Silent	SNP	G	G	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr1:207085119G>C	ENST00000367091.3	-	4	809	c.666C>G	c.(664-666)ccC>ccG	p.P222P	FAIM3_ENST00000420007.2_Silent_p.P222P|FAIM3_ENST00000442471.2_Silent_p.P110P|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	222					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGGGCGTCTGGGGCTTGAGCA	0.542											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													92	91	91					1																	207085119		2203	4300	6503	SO:0001819	synonymous_variant	9214			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.666C>G	chr1.hg19:g.207085119G>C		2164	A8K7J2|B7Z6Z0|D9MWM3	Silent	SNP	ENST00000367091.3	hg19	CCDS1473.1																																																																																				0.542	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		C	207085119	G	C	207085119	2	2	652	1	0	0	0	0	0	0	0	1	5379	1219	43	4		4	FAIM3	1	207085119	Silent	SNP	G	TCGA-G7-7501-01A-11D-2201-08	53348481	207085119	42165502	3	35445											
PIGR	5284	hgsc.bcm.edu	37	1	207105817	207105817	+	Silent	SNP	C	C	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr1:207105817C>G	ENST00000356495.4	-	8	2175	c.1992G>C	c.(1990-1992)cgG>cgC	p.R664R	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	664					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTTCCTGTGCCGGGCTCTGG	0.647																																																0													72	75	74					1																	207105817		2203	4300	6503	SO:0001819	synonymous_variant	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1992G>C	chr1.hg19:g.207105817C>G			Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	hg19	CCDS1474.1																																																																																				0.647	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		G	207105817	C	G	207105817	2	3	652	1	0	0	0	0	0	0	0	1	11899	726	26	4		4	PIGR	1	207105817	Silent	SNP	C	TCGA-G7-7501-01A-11D-2201-08	20698	207105817	42144804	4	35446											
OR2T1	26696	hgsc.bcm.edu	37	1	248569960	248569960	+	Missense_Mutation	SNP	G	G	T	rs150412216	byFrequency	TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr1:248569960G>T	ENST00000366474.1	+	1	665	c.665G>T	c.(664-666)cGg>cTg	p.R222L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	222						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(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCAATTCCCGGGAGATTAAC	0.517																																																0													120	111	114					1																	248569960		2203	4300	6503	SO:0001583	missense	26696			U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.665G>T	chr1.hg19:g.248569960G>T	ENSP00000355430:p.Arg222Leu		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	hg19	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	g	16.46	3.129768	0.56721	.	.	ENSG00000175143	ENST00000366474	T	0.36157	1.27	4.84	0.732	0.18283	GPCR, rhodopsin-like superfamily (1);	0.254304	0.20520	U	0.090718	T	0.31734	0.0806	M	0.62209	1.925	0.09310	N	1	B	0.24576	0.106	B	0.34242	0.178	T	0.38067	-0.9678	10	0.59425	D	0.04	.	1.1502	0.01784	0.326:0.145:0.3802:0.1488	.	222	O43869	OR2T1_HUMAN	L	222	ENSP00000355430:R222L	ENSP00000355430:R222L	R	+	2	0	OR2T1	246636583	0.000000	0.05858	0.022000	0.16811	0.987000	0.75469	0.557000	0.23454	0.236000	0.21180	0.650000	0.86243	CGG		0.517	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			T	248569960	G	T	248569960	3	4	652	1	0	0	0	0	1	0	0	0	11018	1116	39	4	667	4	OR2T1	1	248569960	Missense_Mutation	SNP	G	TCGA-G7-7501-01A-11D-2201-08	41464143	248569960	680661	5	35447											
PLEKHB2	55041	hgsc.bcm.edu	37	2	131897791	131897791	+	Missense_Mutation	SNP	G	G	C	rs143964327		TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr2:131897791G>C	ENST00000403716.1	+	7	1035	c.475G>C	c.(475-477)Gtt>Ctt	p.V159L	PLEKHB2_ENST00000439822.2_Missense_Mutation_p.K114N|PLEKHB2_ENST00000438882.2_Intron|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.V158L|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.V159L|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.V167L|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.V111L|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.V159L	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	159						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		AGGAACTCAAGTTGTCTACGC	0.512																																																0								G	LEU/VAL,LEU/VAL	1,4405	4.2+/-10.8	0,1,2202	62	57	59		475,472	3.9	1	2	dbSNP_134	59	0,8600		0,0,4300	no	missense,missense	PLEKHB2	NM_001100623.1,NM_017958.2	32,32	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	159/223,158/222	131897791	1,13005	2203	4300	6503	SO:0001583	missense	55041				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"Pleckstrin homology (PH) domain containing"	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.475G>C	chr2.hg19:g.131897791G>C	ENSP00000385892:p.Val159Leu		B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	ENST00000403716.1	hg19	CCDS46413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.16|16.16	3.043536|3.043536	0.55003|0.55003	2.27E-4|2.27E-4	0.0|0.0	ENSG00000115762|ENSG00000115762	ENST00000439822|ENST00000409158;ENST00000403716;ENST00000234115;ENST00000538982;ENST00000409612;ENST00000409279	.|.	.|.	.|.	4.81|4.81	3.91|3.91	0.45181|0.45181	.|.	.|.	.|.	.|.	.|.	T|T	0.61236|0.61236	0.2331|0.2331	M|M	0.76328|0.76328	2.33|2.33	0.43574|0.43574	D|D	0.995904|0.995904	B|B;B;B;B	0.30482|0.21905	0.281|0.036;0.061;0.036;0.062	B|B;B;B;B	0.32624|0.26094	0.149|0.03;0.066;0.03;0.03	T|T	0.56757|0.56757	-0.7926|-0.7926	8|8	0.17369|0.25106	T|T	0.5|0.35	.|.	12.1112|12.1112	0.53840|0.53840	0.0:0.0:0.8269:0.1731|0.0:0.0:0.8269:0.1731	.|.	114|158;158;159;167	B4DZ66|Q53FF1;Q96CS7-3;Q96CS7;B8ZZN1	.|.;.;PKHB2_HUMAN;.	N|L	114|167;159;158;111;159;159	.|.	ENSP00000389629:K114N|ENSP00000234115:V158L	K|V	+|+	3|1	2|0	PLEKHB2|PLEKHB2	131614261|131614261	0.999000|0.999000	0.42202|0.42202	0.982000|0.982000	0.44146|0.44146	0.843000|0.843000	0.47879|0.47879	1.275000|1.275000	0.33144|0.33144	0.993000|0.993000	0.38866|0.38866	0.650000|0.650000	0.86243|0.86243	AAG|GTT		0.512	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		C	131897791	G	C	131897791	3	2	652	1	0	0	0	0	1	0	0	0	12067	1029	36	4	497	4	PLEKHB2	2	131897791	Missense_Mutation	SNP	G	TCGA-G7-7501-01A-11D-2201-08		131897791	111301582	6	35448											
TTN	7273	hgsc.bcm.edu	37	2	179567316	179567316	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr2:179567316C>A	ENST00000591111.1	-	105	29571	c.29347G>T	c.(29347-29349)Gaa>Taa	p.E9783*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E10100*|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.E8856*			Q8WZ42	TITIN_HUMAN	titin	13861	Ig-like 79.				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)			AAGGACACTTCACACTCAAAG	0.438																																																0													177	174	175					2																	179567316		2019	4185	6204	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29347G>T	chr2.hg19:g.179567316C>A	ENSP00000465570:p.Glu9783*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	C	60	45.686615	0.99987	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8805	0.96895	0.0:1.0:0.0:0.0	.	.	.	.	X	8856	.	ENSP00000343764:E8856X	E	-	1	0	TTN	179275561	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	7.818000	0.86416	2.704000	0.92352	0.655000	0.94253	GAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179567316	C	A	179567316	4	1	652	1	0	0	0	0	0	1	0	0	16740	835	29	4	74255	4	TTN	2	179567316	Nonsense_Mutation	SNP	C	TCGA-G7-7501-01A-11D-2201-08	47669525	179567316	63632057	7	35449											
HSPE1	3336	hgsc.bcm.edu	37	2	198365946	198365946	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr2:198365946C>G	ENST00000233893.5	+	2	595	c.152C>G	c.(151-153)tCg>tGg	p.S51W	HSPE1_ENST00000465573.1_Intron|HSPE1_ENST00000409468.1_Missense_Mutation_p.S51W|HSPD1_ENST00000345042.2_5'Flank|HSPD1_ENST00000388968.3_5'Flank|HSPE1_ENST00000409729.1_Intron|HSPD1_ENST00000544407.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.S51W	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	51					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			GCTGTTGGATCGGGTTCTAAA	0.408																																																0													53	55	54					2																	198365946		2203	4300	6503	SO:0001583	missense	3336			AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"Heat Shock Proteins / Chaperonins"	5269	protein-coding gene	gene with protein product	"chaperonin 10"	600141	"heat shock 10kD protein 1 (chaperonin 10)"			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.152C>G	chr2.hg19:g.198365946C>G	ENSP00000233893:p.Ser51Trp		O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	hg19	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710542	0.68730	.	.	ENSG00000115541	ENST00000233893;ENST00000409468	.	.	.	5.37	5.37	0.77165	GroES-like (1);	0.221653	0.39475	U	0.001344	T	0.80813	0.4695	M	0.89214	3.015	0.58432	D	0.999999	D	0.60575	0.988	D	0.65573	0.936	D	0.84237	0.0470	9	0.72032	D	0.01	-11.1967	14.0187	0.64541	0.1511:0.8489:0.0:0.0	.	51	P61604	CH10_HUMAN	W	51	.	ENSP00000233893:S51W	S	+	2	0	HSPE1	198074191	0.720000	0.27996	0.637000	0.29366	0.705000	0.40729	3.596000	0.54024	2.530000	0.85305	0.557000	0.71058	TCG		0.408	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		G	198365946	C	G	198365946	3	3	652	1	0	0	0	0	1	0	0	0	7431	893	31	4	158	4	HSPE1	2	198365946	Missense_Mutation	SNP	C	TCGA-G7-7501-01A-11D-2201-08	18798630	198365946	44833427	8	35450											
DNASE1L3	1776	hgsc.bcm.edu	37	3	58179114	58179114	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr3:58179114T>C	ENST00000394549.2	-	7	1073	c.757A>G	c.(757-759)Agt>Ggt	p.S253G	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.S223G|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.S253G|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.S253G	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	253					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCAAAAACACTGTTTGACTTG	0.433																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)											0													111	99	103					3																	58179114		2203	4300	6503	SO:0001583	missense	1776			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"DNase gamma"	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.757A>G	chr3.hg19:g.58179114T>C	ENSP00000378053:p.Ser253Gly		B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	hg19	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.327576	0.24080	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.7	-7.58	0.01313	Endonuclease/exonuclease/phosphatase (2);	1.174290	0.05847	N	0.620530	T	0.30324	0.0761	N	0.17723	0.515	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.09377	0.003;0.004;0.003	T	0.17684	-1.0361	10	0.21540	T	0.41	.	8.2569	0.31763	0.0:0.3088:0.2525:0.4387	.	223;253;253	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	G	223;253;253;253;253	ENSP00000419052:S223G;ENSP00000316193:S253G;ENSP00000417047:S253G;ENSP00000378053:S253G	ENSP00000316193:S253G	S	-	1	0	DNASE1L3	58154154	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.785000	0.04628	-1.315000	0.02297	-0.290000	0.09829	AGT		0.433	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		C	58179114	T	C	58179114	3	2	652	1	0	0	0	0	1	0	0	0	4665	1580	55	3	168	3	DNASE1L3	3	58179114	Missense_Mutation	SNP	T	TCGA-G7-7501-01A-11D-2201-08		58179114	139843316	9	35451											
HERC3	8916	hgsc.bcm.edu	37	4	89575198	89575198	+	Nonsense_Mutation	SNP	G	G	T	rs35418561		TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr4:89575198G>T	ENST00000402738.1	+	7	930	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	HERC3_ENST00000407637.1_Nonsense_Mutation_p.E231*|HERC3_ENST00000264345.3_Nonsense_Mutation_p.E231*	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	231					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCTAGATCGAGAATCTCCATG	0.368																																																0													87	88	88					4																	89575198		2203	4300	6503	SO:0001587	stop_gained	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.691G>T	chr4.hg19:g.89575198G>T	ENSP00000385684:p.Glu231*		A8K1S5|Q8IXX3	Nonsense_Mutation	SNP	ENST00000402738.1	hg19	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	G	36	5.963882	0.97151	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	.	.	.	5.12	4.24	0.50183	.	0.168861	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	10.4986	0.44791	0.078:0.1468:0.7752:0.0	.	.	.	.	X	231	.	ENSP00000264345:E231X	E	+	1	0	HERC3	89794221	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.005000	0.63972	2.664000	0.90586	0.655000	0.94253	GAA		0.368	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		T	89575198	G	T	89575198	4	4	652	1	0	0	0	0	0	1	0	0	7061	943	33	4	709	4	HERC3	4	89575198	Nonsense_Mutation	SNP	G	TCGA-G7-7501-01A-11D-2201-08		89575198	101579078	10	35452											
MYOZ3	91977	hgsc.bcm.edu	37	5	150050078	150050078	+	Missense_Mutation	SNP	G	G	A	rs370373786		TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr5:150050078G>A	ENST00000297130.4	+	3	293	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	MYOZ3_ENST00000517768.1_Missense_Mutation_p.V32M|CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000520112.1_5'Flank	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGCTGAGCGTGCCCCAGGA	0.612																																																0								G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	50	39	43		94,94	2.9	1	5		43	0,8600		0,0,4300	no	missense,missense	MYOZ3	NM_001122853.1,NM_133371.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	32/252,32/252	150050078	1,13005	2203	4300	6503	SO:0001583	missense	91977			AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"calsarcin 3", "FATZ related protein 3"	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.94G>A	chr5.hg19:g.150050078G>A	ENSP00000297130:p.Val32Met			Missense_Mutation	SNP	ENST00000297130.4	hg19	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.820957	0.50633	2.27E-4	0.0	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.70516	-0.49;-0.49	4.74	2.91	0.33838	.	0.542979	0.16126	N	0.228410	T	0.67268	0.2875	M	0.75777	2.31	0.80722	D	1	P	0.51653	0.947	B	0.41946	0.371	T	0.69771	-0.5055	10	0.72032	D	0.01	-16.886	7.231	0.26043	0.277:0.0:0.723:0.0	.	32	Q8TDC0	MYOZ3_HUMAN	M	32	ENSP00000428815:V32M;ENSP00000297130:V32M	ENSP00000297130:V32M	V	+	1	0	MYOZ3	150030271	0.186000	0.23225	0.968000	0.41197	0.985000	0.73830	0.833000	0.27504	1.116000	0.41820	0.555000	0.69702	GTG		0.612	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		A	150050078	G	A	150050078	3	1	652	1	0	0	0	0	1	0	0	0	10099	1145	40	1	100	1	MYOZ3	5	150050078	Missense_Mutation	SNP	G	TCGA-G7-7501-01A-11D-2201-08		150050078	30865182	11	35453											
HLA-DPB1	3115	hgsc.bcm.edu	37	6	33048613	33048613	+	Frame_Shift_Del	DEL	A	A	-	rs41550319		TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr6:33048613delA	ENST00000418931.2	+	2	381	c.265delA	c.(265-267)aacfs	p.N89fs	HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Frame_Shift_Del_p.N89fs|HLA-DPA1_ENST00000419277.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	89	Beta-1.		N -> H (in allele DPB1*02:03; dbSNP:rs41550319).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						GGAGTACTGGAACAGCCAGAA	0.657																																																0													54	55	54					6																	33048613		1511	2709	4220	SO:0001589	frameshift_variant	3115				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.265delA	chr6.hg19:g.33048613delA	ENSP00000408146:p.Asn89fs		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Frame_Shift_Del	DEL	ENST00000418931.2	hg19	CCDS4765.1																																																																																				0.657	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		-	33048613	A	-	33048613	7	5	652	1	0	1	0	1	0	0	0	0	7205	246	9	0	271	0	HLA-DPB1	6	33048613	Frame_Shift_Del	DEL	A	TCGA-G7-7501-01A-11D-2201-08		33048613	138066454	12	35454											
KCNK5	8645	hgsc.bcm.edu	37	6	39159334	39159334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr6:39159334G>A	ENST00000359534.3	-	5	1170	c.832C>T	c.(832-834)Cag>Tag	p.Q278*		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	278					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCCTTCACCTGCAGGGCCTTC	0.547																																																0													100	105	104					6																	39159334		2203	4300	6503	SO:0001587	stop_gained	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.832C>T	chr6.hg19:g.39159334G>A	ENSP00000352527:p.Gln278*		B2RAQ6|B5TJL2|Q5VV76	Nonsense_Mutation	SNP	ENST00000359534.3	hg19	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	G	35	5.470988	0.96274	.	.	ENSG00000164626	ENST00000359534	.	.	.	5.35	4.47	0.54385	.	1.406490	0.05067	N	0.481046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	15.979	0.80091	0.0:0.1351:0.8649:0.0	.	.	.	.	X	278	.	ENSP00000352527:Q278X	Q	-	1	0	KCNK5	39267312	0.997000	0.39634	0.848000	0.33437	0.146000	0.21551	4.384000	0.59607	1.233000	0.43693	0.561000	0.74099	CAG		0.547	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		A	39159334	G	A	39159334	4	1	652	1	0	0	0	0	0	1	0	0	8071	1328	46	2	671	2	KCNK5	6	39159334	Nonsense_Mutation	SNP	G	TCGA-G7-7501-01A-11D-2201-08	6110721	39159334	131955733	13	35455											
C6orf150	115004	hgsc.bcm.edu	37	6	74135070	74135070	+	Silent	SNP	A	A	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr6:74135070A>G	ENST00000370315.3	-	5	1543	c.1449T>C	c.(1447-1449)taT>taC	p.Y483Y	MB21D1_ENST00000370318.1_Intron	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	483					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						CAGGAATAAAATAATTCTCAA	0.373																																																0													54	54	54					6																	74135070		2203	4300	6503	SO:0001819	synonymous_variant	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1449T>C	chr6.hg19:g.74135070A>G			L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	hg19	CCDS4978.1																																																																																				0.373	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		G	74135070	A	G	74135070	2	3	652	1	0	0	0	0	0	0	0	1	2339	108	4	3		3	C6orf150	6	74135070	Silent	SNP	A	TCGA-G7-7501-01A-11D-2201-08	34975736	74135070	96979997	14	35456											
TBP	6908	hgsc.bcm.edu	37	6	170871004	170871004	+	Silent	SNP	G	G	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000540980.1_Silent_p.Q40Q|TBP_ENST00000230354.6_Silent_p.Q60Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		Ggcagcagcagcaacaacaac	0.542																																																0													43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	chr6.hg19:g.170871004G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	hg19	CCDS5315.1																																																																																				0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871004	G	A	170871004	2	1	652	1	0	0	0	0	0	0	0	1	15649	962	34	2		2	TBP	6	170871004	Silent	SNP	G	TCGA-G7-7501-01A-11D-2201-08	96735934	170871004	244063	15	35457											
C7orf59	389541	hgsc.bcm.edu	37	7	99746597	99746598	+	Start_Codon_Ins	INS	-	-	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr7:99746597_99746598insG	ENST00000341942.5	+	0	68_69				LAMTOR4_ENST00000441173.1_Start_Codon_Ins	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4						cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											AAGACTGCGATGGTGAGTGAGG	0.658																																																0																																										SO:0001582	initiator_codon_variant	389541				CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 59"	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.3dupG	chr7.hg19:g.99746599_99746599dupG				Frame_Shift_Ins	INS	ENST00000341942.5	hg19	CCDS34702.1																																																																																				0.658	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337373.2	NM_001008395		G	99746598	-	G	99746597	7	5	652	1	0	1	1	0	0	0	0	0	2408	1478	51	0	4	0	C7orf59	7	99746597	Start_Codon_Ins	INS	-	TCGA-G7-7501-01A-11D-2201-08		99746597	59392066	16	35458											
C7orf58	79974	hgsc.bcm.edu	37	7	120629777	120629777	+	Silent	SNP	C	C	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr7:120629777C>G	ENST00000310396.5	+	2	569	c.102C>G	c.(100-102)acC>acG	p.T34T	CPED1_ENST00000450913.2_Silent_p.T34T|CPED1_ENST00000340646.5_Silent_p.T34T|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	34						endoplasmic reticulum (GO:0005783)											AGACTCTGACCCTCCGAGGGT	0.587																																																0													112	107	109					7																	120629777		2203	4300	6503	SO:0001819	synonymous_variant	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.102C>G	chr7.hg19:g.120629777C>G			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	hg19	CCDS34739.1																																																																																				0.587	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		G	120629777	C	G	120629777	2	3	652	1	0	0	0	0	0	0	0	1	2407	610	22	4		4	C7orf58	7	120629777	Silent	SNP	C	TCGA-G7-7501-01A-11D-2201-08	20883180	120629777	38508886	17	35459											
PTPRZ1	5803	hgsc.bcm.edu	37	7	121679512	121679512	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr7:121679512A>T	ENST00000393386.2	+	20	5918	c.5507A>T	c.(5506-5508)aAa>aTa	p.K1836I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.K969I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1836	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGCAGAGAAAATGTGATCAG	0.423																																																0													84	83	84					7																	121679512		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5507A>T	chr7.hg19:g.121679512A>T	ENSP00000377047:p.Lys1836Ile		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.982726	0.93044	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.21361	2.01;2.01	5.88	5.88	0.94601	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	H	0.96460	3.825	0.80722	D	1	D;P;P	0.76494	0.999;0.503;0.674	D;P;P	0.85130	0.997;0.843;0.802	T	0.75169	-0.3412	10	0.87932	D	0	.	16.3015	0.82820	1.0:0.0:0.0:0.0	.	975;969;1836	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	I	1836;969	ENSP00000377047:K1836I;ENSP00000410000:K969I	ENSP00000377047:K1836I	K	+	2	0	PTPRZ1	121466748	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.195000	0.72088	2.239000	0.73571	0.533000	0.62120	AAA		0.423	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		T	121679512	A	T	121679512	3	4	652	1	0	0	0	0	1	0	0	0	12820	14	1	5	5585	5	PTPRZ1	7	121679512	Missense_Mutation	SNP	A	TCGA-G7-7501-01A-11D-2201-08	1049735	121679512	37459151	18	35460											
SF3B2	10992	hgsc.bcm.edu	37	11	65829382	65829382	+	Silent	SNP	C	C	A	rs559206953		TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr11:65829382C>A	ENST00000322535.6	+	16	1939	c.1890C>A	c.(1888-1890)ccC>ccA	p.P630P	SF3B2_ENST00000528302.1_Silent_p.P613P	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	630					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGGTCCCTCCCCCATGGCTGA	0.562																																																0													115	109	111					11																	65829382		2201	4295	6496	SO:0001819	synonymous_variant	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1890C>A	chr11.hg19:g.65829382C>A			A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	hg19	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	6.177	0.400770	0.11696	.	.	ENSG00000087365	ENST00000530981	.	.	.	5.8	-0.975	0.10289	.	0.105145	0.64402	D	0.000003	T	0.53916	0.1826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51212	-0.8734	6	0.87932	D	0	-15.3896	2.3521	0.04286	0.1231:0.3008:0.3612:0.2149	.	.	.	.	H	51	.	ENSP00000436757:P51H	P	+	2	0	SF3B2	65585958	0.832000	0.29368	0.923000	0.36655	0.530000	0.34684	-0.126000	0.10563	-0.166000	0.10890	0.650000	0.86243	CCC		0.562	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			A	65829382	C	A	65829382	2	1	652	1	0	0	0	0	0	0	0	1	14157	610	22	4		4	SF3B2	11	65829382	Silent	SNP	C	TCGA-G7-7501-01A-11D-2201-08		65829382	69177134	19	35461											
ARAP1	116985	hgsc.bcm.edu	37	11	72406598	72406598	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr11:72406598T>C	ENST00000393609.3	-	25	3698	c.3496A>G	c.(3496-3498)Agt>Ggt	p.S1166G	ARAP1_ENST00000393605.3_Missense_Mutation_p.S926G|ARAP1_ENST00000359373.5_Missense_Mutation_p.S1166G|ARAP1_ENST00000495878.1_5'UTR|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000426523.1_Missense_Mutation_p.S921G|ARAP1_ENST00000334211.8_Missense_Mutation_p.S921G|ARAP1_ENST00000455638.2_Missense_Mutation_p.S1166G|ARAP1_ENST00000429686.1_Missense_Mutation_p.S860G	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1166					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGGTCCCACTGGCAGTGCCA	0.647																																					Ovarian(102;1198 1520 13195 17913 37529)											0													46	44	45					11																	72406598		2200	4293	6493	SO:0001583	missense	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3496A>G	chr11.hg19:g.72406598T>C	ENSP00000377233:p.Ser1166Gly		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	hg19	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846485	0.51164	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686	T;T;T;T;T;T;T	0.07327	3.21;3.21;3.22;3.27;3.2;3.27;3.23	4.43	4.43	0.53597	.	0.300288	0.30419	N	0.009674	T	0.07007	0.0178	N	0.08118	0	0.34771	D	0.733746	B;P;P;B;B	0.50943	0.026;0.92;0.94;0.033;0.056	B;B;P;B;B	0.47402	0.01;0.422;0.546;0.028;0.031	T	0.35251	-0.9796	10	0.62326	D	0.03	.	12.6484	0.56748	0.0:0.0:0.0:1.0	.	921;860;1166;1166;926	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	G	1166;1166;926;921;1166;921;860	ENSP00000352332:S1166G;ENSP00000390461:S1166G;ENSP00000377230:S926G;ENSP00000335506:S921G;ENSP00000377233:S1166G;ENSP00000392264:S921G;ENSP00000403127:S860G	ENSP00000335506:S921G	S	-	1	0	ARAP1	72084246	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.593000	0.67550	1.875000	0.54330	0.377000	0.23210	AGT		0.647	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		C	72406598	T	C	72406598	3	2	652	1	0	0	0	0	1	0	0	0	838	1580	55	3	900	3	ARAP1	11	72406598	Missense_Mutation	SNP	T	TCGA-G7-7501-01A-11D-2201-08	6577216	72406598	62599918	20	35462											
CAPZA3	93661	hgsc.bcm.edu	37	12	18892035	18892035	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr12:18892035T>A	ENST00000317658.3	+	1	991	c.833T>A	c.(832-834)cTg>cAg	p.L278Q	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	278					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GACTTGAATCTGGTGATGTAT	0.393																																																0													51	53	52					12																	18892035		2200	4287	6487	SO:0001583	missense	93661			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.833T>A	chr12.hg19:g.18892035T>A	ENSP00000326238:p.Leu278Gln		Q969J0	Missense_Mutation	SNP	ENST00000317658.3	hg19	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824365	0.50739	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.54	3.39	0.38822	.	0.000000	0.28088	U	0.016650	T	0.34395	0.0896	N	0.08118	0	0.33519	D	0.592145	P	0.49783	0.928	P	0.56612	0.802	T	0.50311	-0.8843	9	0.87932	D	0	-8.2508	7.6761	0.28486	0.0:0.0985:0.0:0.9015	.	278	Q96KX2	CAZA3_HUMAN	Q	278	.	ENSP00000326238:L278Q	L	+	2	0	CAPZA3	18783302	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	4.188000	0.58351	0.778000	0.33520	0.379000	0.24179	CTG		0.393	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		A	18892035	T	A	18892035	3	1	652	1	0	0	0	0	1	0	0	0	2644	1580	55	5	835	5	CAPZA3	12	18892035	Missense_Mutation	SNP	T	TCGA-G7-7501-01A-11D-2201-08		18892035	114959860	21	35463											
MTUS2	23281	hgsc.bcm.edu	37	13	29600351	29600351	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr13:29600351G>A	ENST00000431530.3	+	1	1604	c.1546G>A	c.(1546-1548)Gtt>Att	p.V516I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	506						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CACCACATCTGTTGCTGAAAA	0.507																																																0													85	89	88					13																	29600351		1967	4155	6122	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1546G>A	chr13.hg19:g.29600351G>A	ENSP00000392057:p.Val516Ile		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	hg19	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	11.63	1.695795	0.30052	.	.	ENSG00000132938	ENST00000431530	T	0.14266	2.52	5.39	1.52	0.23074	.	0.415389	0.20061	N	0.100094	T	0.10637	0.0260	L	0.51422	1.61	0.09310	N	1	B	0.23185	0.081	B	0.15484	0.013	T	0.25222	-1.0138	9	.	.	.	.	5.784	0.18322	0.2147:0.2602:0.5251:0.0	.	506	Q5JR59	MTUS2_HUMAN	I	516	ENSP00000392057:V516I	.	V	+	1	0	MTUS2	28498351	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.241000	0.18065	0.388000	0.25054	-0.175000	0.13238	GTT		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		A	29600351	G	A	29600351	3	1	652	1	0	0	0	0	1	0	0	0	9968	1377	48	2	1548	2	MTUS2	13	29600351	Missense_Mutation	SNP	G	TCGA-G7-7501-01A-11D-2201-08		29600351	85569527	22	35464											
NBEA	26960	hgsc.bcm.edu	37	13	35733740	35733740	+	Silent	SNP	A	A	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr13:35733740A>C	ENST00000400445.3	+	22	3966	c.3432A>C	c.(3430-3432)acA>acC	p.T1144T	NBEA_ENST00000310336.4_Silent_p.T1144T|NBEA_ENST00000379939.2_Silent_p.T1144T|NBEA_ENST00000540320.1_Silent_p.T1144T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1144					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATAGTAGTACATCATTTCTCT	0.333																																																0													48	44	45					13																	35733740		1841	4085	5926	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3432A>C	chr13.hg19:g.35733740A>C			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	hg19	CCDS45026.1																																																																																				0.333	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		C	35733740	A	C	35733740	2	2	652	1	0	0	0	0	0	0	0	1	10189	204	8	5		5	NBEA	13	35733740	Silent	SNP	A	TCGA-G7-7501-01A-11D-2201-08	6133389	35733740	79436138	23	35465											
TXNDC16	57544	hgsc.bcm.edu	37	14	52907333	52907333	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr14:52907333G>C	ENST00000281741.4	-	19	2323	c.1952C>G	c.(1951-1953)aCa>aGa	p.T651R	TXNDC16_ENST00000554399.1_5'UTR	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	651					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTTTACCAGTGTCAATATTGC	0.308																																																0													81	77	78					14																	52907333		2203	4297	6500	SO:0001583	missense	57544			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1952C>G	chr14.hg19:g.52907333G>C	ENSP00000281741:p.Thr651Arg		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	hg19	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	0.336	-0.953307	0.02285	.	.	ENSG00000087301	ENST00000281741	T	0.28666	1.6	5.29	-2.77	0.05877	.	0.845265	0.10716	N	0.642273	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.29181	-1.0020	10	0.17832	T	0.49	-16.9969	0.0038	0.00000	0.287:0.2064:0.2084:0.2982	.	646;651	B7ZME4;Q9P2K2	.;TXD16_HUMAN	R	651	ENSP00000281741:T651R	ENSP00000281741:T651R	T	-	2	0	TXNDC16	51977083	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-1.373000	0.02568	-0.539000	0.06273	-0.216000	0.12614	ACA		0.308	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		C	52907333	G	C	52907333	3	2	652	1	0	0	0	0	1	0	0	0	16800	1377	48	4	537	4	TXNDC16	14	52907333	Missense_Mutation	SNP	G	TCGA-G7-7501-01A-11D-2201-08		52907333	54442207	24	35466											
MORF4L1	10933	hgsc.bcm.edu	37	15	79185887	79185887	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr15:79185887T>C	ENST00000331268.5	+	10	868	c.664T>C	c.(664-666)Tat>Cat	p.Y222H	MORF4L1_ENST00000379535.4_Missense_Mutation_p.Y208H|MORF4L1_ENST00000426013.2_Missense_Mutation_p.Y183H|MORF4L1_ENST00000558746.1_Missense_Mutation_p.Y156H|MORF4L1_ENST00000559345.1_Missense_Mutation_p.Y95H|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Missense_Mutation_p.Y95H	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	222	Interaction with RB1-1.|MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						ATAGCTCTTTTATCTTCCTGC	0.299																																																0													67	71	70					15																	79185887		2196	4288	6484	SO:0001583	missense	10933			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"MORF-related gene on chromosome 15", "Esa1p-associated factor 3 homolog (S. cerevisiae)"	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.664T>C	chr15.hg19:g.79185887T>C	ENSP00000331310:p.Tyr222His		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	hg19	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	T	8.246	0.807960	0.16467	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.09163	3.01;3.01;3.01	4.72	4.72	0.59763	.	0.113729	0.64402	D	0.000011	T	0.06005	0.0156	N	0.10874	0.06	0.39713	D	0.971363	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.27706	-1.0066	10	0.44086	T	0.13	-22.6224	8.8633	0.35272	0.1672:0.0:0.0:0.8328	.	183;222	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	H	208;183;222	ENSP00000368850:Y208H;ENSP00000408880:Y183H;ENSP00000331310:Y222H	ENSP00000331310:Y222H	Y	+	1	0	MORF4L1	76972942	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.625000	0.61262	1.902000	0.55061	0.459000	0.35465	TAT		0.299	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		C	79185887	T	C	79185887	3	2	652	1	0	0	0	0	1	0	0	0	9708	1754	61	3	702	3	MORF4L1	15	79185887	Missense_Mutation	SNP	T	TCGA-G7-7501-01A-11D-2201-08		79185887	23345505	25	35467											
FLYWCH2	114984	hgsc.bcm.edu	37	16	2946454	2946456	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr16:2946454_2946456delCCC	ENST00000396958.3	+	3	384_386	c.4_6delCCC	c.(4-6)cccdel	p.P2del	FLYWCH2_ENST00000293981.6_In_Frame_Del_p.P2del|FLYWCH2_ENST00000572006.1_In_Frame_Del_p.P2del	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	2							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						TCCCGGGATGCCCCTGCCCGAGC	0.67																																																0																																										SO:0001651	inframe_deletion	114984			BC014089	CCDS10482.1	16p13.3	2014-02-12	2007-06-21		ENSG00000162076	ENSG00000162076			25178	protein-coding gene	gene with protein product						12477932	Standard	NM_138439		Approved		uc010uwk.2	Q96CP2	OTTHUMG00000128962	ENST00000396958.3:c.4_6delCCC	chr16.hg19:g.2946454_2946456delCCC	ENSP00000380159:p.Pro2del			In_Frame_Del	DEL	ENST00000396958.3	hg19	CCDS10482.1																																																																																				0.67	FLYWCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250944.1	NM_138439		-	2946456	CCC	-	2946454	7	5	652	1	0	1	0	1	0	0	0	0	5950	739	26	0	6	0	FLYWCH2	16	2946454	In_Frame_Del	DEL	CCC	TCGA-G7-7501-01A-11D-2201-08		2946454	87408299	26	35468	262	3									
FLYWCH2	114984	hgsc.bcm.edu	37	16	2946458	2946458	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr16:2946458T>G	ENST00000396958.3	+	3	388	c.8T>G	c.(7-9)cTg>cGg	p.L3R	FLYWCH2_ENST00000293981.6_Missense_Mutation_p.L3R|FLYWCH2_ENST00000572006.1_Missense_Mutation_p.L3R	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	3							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						GGGATGCCCCTGCCCGAGCCC	0.672																																																0													28	35	32					16																	2946458		2197	4300	6497	SO:0001583	missense	114984			BC014089	CCDS10482.1	16p13.3	2014-02-12	2007-06-21		ENSG00000162076	ENSG00000162076			25178	protein-coding gene	gene with protein product						12477932	Standard	NM_138439		Approved		uc010uwk.2	Q96CP2	OTTHUMG00000128962	ENST00000396958.3:c.8T>G	chr16.hg19:g.2946458T>G	ENSP00000380159:p.Leu3Arg			Missense_Mutation	SNP	ENST00000396958.3	hg19	CCDS10482.1	.	.	.	.	.	.	.	.	.	.	T	8.600	0.886580	0.17540	.	.	ENSG00000162076	ENST00000396958;ENST00000293981	.	.	.	3.6	2.48	0.30137	.	0.351696	0.16312	N	0.219949	T	0.25121	0.0610	L	0.32530	0.975	0.24368	N	0.994842	P	0.44044	0.825	B	0.39935	0.314	T	0.11470	-1.0586	9	0.87932	D	0	.	6.3825	0.21542	0.2172:0.0:0.0:0.7828	.	3	Q96CP2	FWCH2_HUMAN	R	3	.	ENSP00000293981:L3R	L	+	2	0	FLYWCH2	2886459	0.936000	0.31750	0.877000	0.34402	0.638000	0.38207	0.665000	0.25083	0.717000	0.32145	0.334000	0.21626	CTG		0.672	FLYWCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250944.1	NM_138439		G	2946458	T	G	2946458	3	3	652	1	0	0	0	0	1	0	0	0	5950	1580	55	5	10	5	FLYWCH2	16	2946458	Missense_Mutation	SNP	T	TCGA-G7-7501-01A-11D-2201-08	4	2946458	87408295	27	35469	262	3									
FLYWCH2	114984	hgsc.bcm.edu	37	16	2946461	2946461	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr16:2946461C>A	ENST00000396958.3	+	3	391	c.11C>A	c.(10-12)cCc>cAc	p.P4H	FLYWCH2_ENST00000293981.6_Missense_Mutation_p.P4H|FLYWCH2_ENST00000572006.1_Missense_Mutation_p.P4H	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	4							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						ATGCCCCTGCCCGAGCCCAGC	0.672																																																0													28	36	33					16																	2946461		2197	4300	6497	SO:0001583	missense	114984			BC014089	CCDS10482.1	16p13.3	2014-02-12	2007-06-21		ENSG00000162076	ENSG00000162076			25178	protein-coding gene	gene with protein product						12477932	Standard	NM_138439		Approved		uc010uwk.2	Q96CP2	OTTHUMG00000128962	ENST00000396958.3:c.11C>A	chr16.hg19:g.2946461C>A	ENSP00000380159:p.Pro4His			Missense_Mutation	SNP	ENST00000396958.3	hg19	CCDS10482.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050286	0.36181	.	.	ENSG00000162076	ENST00000396958;ENST00000293981	.	.	.	3.6	3.6	0.41247	.	0.236227	0.22090	N	0.064771	T	0.45316	0.1336	L	0.34521	1.04	0.21697	N	0.999582	D	0.65815	0.995	P	0.57468	0.821	T	0.26121	-1.0112	9	0.87932	D	0	.	11.0322	0.47781	0.0:1.0:0.0:0.0	.	4	Q96CP2	FWCH2_HUMAN	H	4	.	ENSP00000293981:P4H	P	+	2	0	FLYWCH2	2886462	0.035000	0.19736	0.510000	0.27712	0.655000	0.38815	1.813000	0.38962	2.322000	0.78497	0.407000	0.27541	CCC		0.672	FLYWCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250944.1	NM_138439		A	2946461	C	A	2946461	3	1	652	1	0	0	0	0	1	0	0	0	5950	623	22	4	13	4	FLYWCH2	16	2946461	Missense_Mutation	SNP	C	TCGA-G7-7501-01A-11D-2201-08	3	2946461	87408292	28	35470	262	3									
RBBP6	5930	hgsc.bcm.edu	37	16	24582258	24582258	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr16:24582258A>C	ENST00000319715.4	+	18	4303	c.3871A>C	c.(3871-3873)Act>Cct	p.T1291P	RBBP6_ENST00000381039.3_Missense_Mutation_p.T451P|RBBP6_ENST00000348022.2_Missense_Mutation_p.T1257P	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1291					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TACAAAGCGAACTGTGATTAA	0.343																																																0													44	43	43					16																	24582258		2197	4300	6497	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3871A>C	chr16.hg19:g.24582258A>C	ENSP00000317872:p.Thr1291Pro		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	hg19	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.248060	0.59103	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.34667	1.35;1.46;1.36	5.6	5.6	0.85130	.	0.161807	0.42420	D	0.000707	T	0.49406	0.1555	L	0.32530	0.975	0.47621	D	0.999476	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.997;0.994	T	0.40794	-0.9544	10	0.35671	T	0.21	-16.9171	16.0786	0.80985	1.0:0.0:0.0:0.0	.	451;1257;1291	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	P	451;1291;1257	ENSP00000370427:T451P;ENSP00000317872:T1291P;ENSP00000316291:T1257P	ENSP00000317872:T1291P	T	+	1	0	RBBP6	24489759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.465000	0.80898	2.254000	0.74563	0.460000	0.39030	ACT		0.343	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		C	24582258	A	C	24582258	3	2	652	1	0	0	0	0	1	0	0	0	13109	43	2	5	3995	5	RBBP6	16	24582258	Missense_Mutation	SNP	A	TCGA-G7-7501-01A-11D-2201-08	21635797	24582258	65772495	29	35471											
PRKCSH	5589	hgsc.bcm.edu	37	19	11558370	11558370	+	Silent	SNP	G	G	A	rs77563879		TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:11558370G>A	ENST00000589838.1	+	10	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E	PRKCSH_ENST00000412601.1_Silent_p.E322E|PRKCSH_ENST00000592741.1_Silent_p.E322E|PRKCSH_ENST00000587327.1_Silent_p.E322E|PRKCSH_ENST00000252455.2_Silent_p.E322E|PRKCSH_ENST00000591462.1_Silent_p.E322E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	322	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E321_E322delEE(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaggaagaagagg	0.632																																																1	Deletion - In frame(1)	central_nervous_system(1)											27	27	27					19																	11558370		2200	4298	6498	SO:0001819	synonymous_variant	5589				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.966G>A	chr19.hg19:g.11558370G>A			A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	hg19	CCDS32911.1																																																																																				0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			A	11558370	G	A	11558370	2	1	652	1	0	0	0	0	0	0	0	1	12521	991	35	2		2	PRKCSH	19	11558370	Silent	SNP	G	TCGA-G7-7501-01A-11D-2201-08		11558370	47570613	30	35472											
ZNF700	90592	hgsc.bcm.edu	37	19	12060128	12060128	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:12060128C>T	ENST00000254321.5	+	4	1432	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	ZNF700_ENST00000482090.1_Missense_Mutation_p.A412V|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTCAGATCTGCCTCACAGCTT	0.473																																																0													91	82	85					19																	12060128		2203	4300	6503	SO:0001583	missense	90592			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1289C>T	chr19.hg19:g.12060128C>T	ENSP00000254321:p.Ala430Val		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	hg19	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	4.742	0.138029	0.09083	.	.	ENSG00000196757	ENST00000254321	T	0.34072	1.38	0.606	0.606	0.17559	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17450	0.0419	N	0.16708	0.43	0.09310	N	1	B	0.27910	0.193	B	0.21708	0.036	T	0.23868	-1.0176	9	0.17832	T	0.49	.	5.5675	0.17179	0.3178:0.6822:0.0:0.0	.	430	Q9H0M5	ZN700_HUMAN	V	430	ENSP00000254321:A430V	ENSP00000254321:A430V	A	+	2	0	ZNF700	11921128	0.000000	0.05858	0.001000	0.08648	0.090000	0.18270	-0.886000	0.04157	0.577000	0.29470	0.195000	0.17529	GCC		0.473	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		T	12060128	C	T	12060128	3	4	652	1	0	0	0	0	1	0	0	0	18109	739	26	2	1303	2	ZNF700	19	12060128	Missense_Mutation	SNP	C	TCGA-G7-7501-01A-11D-2201-08	501758	12060128	47068855	31	35473											
PLEKHG2	64857	hgsc.bcm.edu	37	19	39914552	39914552	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:39914552C>G	ENST00000409794.3	+	19	3629	c.2779C>G	c.(2779-2781)Ctt>Gtt	p.L927V	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.L868V|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.L898V|PLEKHG2_ENST00000378550.1_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	927					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TAAGCAAGACCTTCCGGGCAT	0.577																																																0													75	73	74					19																	39914552		2203	4300	6503	SO:0001583	missense	64857			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2779C>G	chr19.hg19:g.39914552C>G	ENSP00000386733:p.Leu927Val		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	hg19	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	6.255	0.415175	0.11870	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	T;T;T	0.69306	-0.26;-0.28;-0.39	4.94	2.56	0.30785	.	1.430940	0.04629	N	0.403390	T	0.50905	0.1643	N	0.08118	0	0.41040	D	0.985222	B;B;B	0.12630	0.003;0.002;0.006	B;B;B	0.06405	0.002;0.001;0.001	T	0.27606	-1.0069	10	0.72032	D	0.01	.	11.6779	0.51440	0.0:0.5758:0.4242:0.0	.	898;927;868	Q9H7P9-3;Q9H7P9;E7ESZ3	.;PKHG2_HUMAN;.	V	927;898;868	ENSP00000386733:L927V;ENSP00000392906:L898V;ENSP00000408857:L868V	ENSP00000386733:L927V	L	+	1	0	PLEKHG2	44606392	0.001000	0.12720	0.688000	0.30117	0.059000	0.15707	1.112000	0.31172	1.207000	0.43291	0.655000	0.94253	CTT		0.577	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		G	39914552	C	G	39914552	3	3	652	1	0	0	0	0	1	0	0	0	12071	681	24	4	2849	4	PLEKHG2	19	39914552	Missense_Mutation	SNP	C	TCGA-G7-7501-01A-11D-2201-08	27854424	39914552	19214431	32	35474											
ZNF45	7596	hgsc.bcm.edu	37	19	44418234	44418234	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:44418234C>T	ENST00000269973.5	-	10	2444	c.1354G>A	c.(1354-1356)Ggc>Agc	p.G452S	ZNF45_ENST00000589703.1_Missense_Mutation_p.G452S|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	452					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGGCTGAAGCCCTTGCCACAC	0.483																																																0													62	63	63					19																	44418234		2203	4300	6503	SO:0001583	missense	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1354G>A	chr19.hg19:g.44418234C>T	ENSP00000269973:p.Gly452Ser		P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	hg19	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692770	0.48202	.	.	ENSG00000124459	ENST00000269973	T	0.35421	1.31	3.62	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37178	N	0.002211	T	0.17023	0.0409	N	0.01122	-1.005	0.26498	N	0.974814	B	0.34349	0.45	B	0.42995	0.404	T	0.15464	-1.0436	10	0.44086	T	0.13	-11.8092	10.0287	0.42087	0.2022:0.7977:0.0:0.0	.	452	Q02386	ZNF45_HUMAN	S	452	ENSP00000269973:G452S	ENSP00000269973:G452S	G	-	1	0	ZNF45	49110074	0.000000	0.05858	0.984000	0.44739	0.830000	0.47004	0.090000	0.15025	2.030000	0.59900	0.462000	0.41574	GGC		0.483	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		T	44418234	C	T	44418234	3	4	652	1	0	0	0	0	1	0	0	0	17926	623	22	2	698	2	ZNF45	19	44418234	Missense_Mutation	SNP	C	TCGA-G7-7501-01A-11D-2201-08	4503682	44418234	14710749	33	35475											
SLC8A2	6543	hgsc.bcm.edu	37	19	47969527	47969527	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:47969527C>T	ENST00000236877.6	-	2	529	c.134G>A	c.(133-135)gGg>gAg	p.G45E	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	45					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCGGTAGGACCCCTGGCAGCC	0.731																																																0													10	9	9					19																	47969527		2191	4277	6468	SO:0001583	missense	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.134G>A	chr19.hg19:g.47969527C>T	ENSP00000236877:p.Gly45Glu		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	hg19	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525726	0.44969	.	.	ENSG00000118160	ENST00000236877	T	0.30448	1.53	4.25	3.19	0.36642	.	0.402651	0.22338	N	0.061364	T	0.23611	0.0571	L	0.51914	1.62	0.21782	N	0.999548	B	0.06786	0.001	B	0.06405	0.002	T	0.25433	-1.0132	10	0.10111	T	0.7	.	9.7772	0.40626	0.0:0.7898:0.2102:0.0	.	45	Q9UPR5	NAC2_HUMAN	E	45	ENSP00000236877:G45E	ENSP00000236877:G45E	G	-	2	0	SLC8A2	52661339	0.158000	0.22850	0.999000	0.59377	0.952000	0.60782	1.497000	0.35649	0.979000	0.38497	0.462000	0.41574	GGG		0.731	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			T	47969527	C	T	47969527	3	4	652	1	0	0	0	0	1	0	0	0	14713	623	22	2	2667	2	SLC8A2	19	47969527	Missense_Mutation	SNP	C	TCGA-G7-7501-01A-11D-2201-08	3551293	47969527	11159456	34	35476											
NAPB	63908	hgsc.bcm.edu	37	20	23370612	23370612	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr20:23370612A>G	ENST00000377026.4	-	7	617	c.532T>C	c.(532-534)Tac>Cac	p.Y178H	NAPB_ENST00000432543.2_Missense_Mutation_p.Y139H|NAPB_ENST00000398425.3_Missense_Mutation_p.Y84H|NAPB_ENST00000472855.1_5'UTR	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	178					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					GCTTTCTGGTACTGCTCAAGC	0.398																																																0													101	99	99					20																	23370612		2203	4300	6503	SO:0001583	missense	63908			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.532T>C	chr20.hg19:g.23370612A>G	ENSP00000366225:p.Tyr178His		B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	ENST00000377026.4	hg19	CCDS13152.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.897519	0.91962	.	.	ENSG00000125814	ENST00000377026;ENST00000398425;ENST00000432543;ENST00000431864	T;T;T	0.48201	0.82;0.82;0.82	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	H	0.97758	4.07	0.80722	D	1	D;D;D;D	0.65815	0.995;0.983;0.982;0.995	P;P;P;P	0.62435	0.902;0.82;0.848;0.902	D	0.86047	0.1523	10	0.87932	D	0	-17.6345	14.5087	0.67769	1.0:0.0:0.0:0.0	.	139;84;182;178	B4DK44;Q4G0M0;B4DIV0;Q9H115	.;.;.;SNAB_HUMAN	H	178;84;139;135	ENSP00000366225:Y178H;ENSP00000381459:Y84H;ENSP00000413600:Y139H	ENSP00000366225:Y178H	Y	-	1	0	NAPB	23318612	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.251000	0.95483	2.027000	0.59764	0.383000	0.25322	TAC		0.398	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080		G	23370612	A	G	23370612	3	3	652	1	0	0	0	0	1	0	0	0	10164	391	14	3	384	3	NAPB	20	23370612	Missense_Mutation	SNP	A	TCGA-G7-7501-01A-11D-2201-08		23370612	39654908	35	35477											
RIPK4	54101	hgsc.bcm.edu	37	21	43161570	43161570	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr21:43161570C>A	ENST00000352483.2	-	9	1991	c.1927G>T	c.(1927-1929)Gtg>Ttg	p.V643L	RIPK4_ENST00000332512.3_Missense_Mutation_p.V595L|RIPK4_ENST00000542057.1_Missense_Mutation_p.V532L|RIPK4_ENST00000544709.1_Missense_Mutation_p.V532L|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	643					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTCACACTCACCCCCGGCTGC	0.682																																																0													55	55	55					21																	43161570		2203	4298	6501	SO:0001583	missense	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1927G>T	chr21.hg19:g.43161570C>A	ENSP00000330161:p.Val643Leu		Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.44|18.44	3.625278|3.625278	0.66901|0.66901	.|.	.|.	ENSG00000183421|ENSG00000183421	ENST00000330470|ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.|T;T;T;T	.|0.65364	.|2.4;2.4;-0.15;-0.15	4.89|4.89	3.99|3.99	0.46301|0.46301	.|.	.|0.235579	.|0.28694	.|N	.|0.014447	T|T	0.51007|0.51007	0.1649|0.1649	L|L	0.28504|0.28504	0.86|0.86	0.35928|0.35928	D|D	0.832337|0.832337	.|B	.|0.33940	.|0.433	.|B	.|0.33454	.|0.164	T|T	0.62101|0.62101	-0.6925|-0.6925	6|10	0.39692|0.62326	T|D	0.17|0.03	-26.51|-26.51	14.2846|14.2846	0.66238|0.66238	0.0:0.8502:0.1498:0.0|0.0:0.8502:0.1498:0.0	.|.	.|595	.|P57078-2	.|.	V|L	331|595;643;532;532	.|ENSP00000332454:V595L;ENSP00000330161:V643L;ENSP00000441754:V532L;ENSP00000442901:V532L	ENSP00000330975:G331V|ENSP00000332454:V595L	G|V	-|-	2|1	0|0	RIPK4|RIPK4	42034639|42034639	0.982000|0.982000	0.34865|0.34865	0.944000|0.944000	0.38274|0.38274	0.671000|0.671000	0.39405|0.39405	4.763000|4.763000	0.62257|0.62257	1.021000|1.021000	0.39600|0.39600	0.591000|0.591000	0.81541|0.81541	GGT|GTG		0.682	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		A	43161570	C	A	43161570	3	1	652	1	0	0	0	0	1	0	0	0	13389	507	18	4	575	4	RIPK4	21	43161570	Missense_Mutation	SNP	C	TCGA-G7-7501-01A-11D-2201-08		43161570	4968325	36	35478											
CCT8L2	150160	hgsc.bcm.edu	37	22	17073382	17073382	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr22:17073382C>T	ENST00000359963.3	-	1	318	c.59G>A	c.(58-60)aGg>aAg	p.R20K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	20					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCTCTCCCTTGGGTTCAG	0.657																																																0													39	45	43					22																	17073382		2203	4300	6503	SO:0001583	missense	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.59G>A	chr22.hg19:g.17073382C>T	ENSP00000353048:p.Arg20Lys		A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	hg19	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.563933	0.00903	.	.	ENSG00000198445	ENST00000359963	T	0.55052	0.54	1.81	-1.91	0.07641	.	1.067860	0.07473	N	0.902516	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24333	-1.0163	10	0.02654	T	1	-1.1577	5.1497	0.15004	0.0:0.3187:0.0:0.6813	.	20	Q96SF2	TCPQM_HUMAN	K	20	ENSP00000353048:R20K	ENSP00000353048:R20K	R	-	2	0	CCT8L2	15453382	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.440000	0.02412	-0.377000	0.07930	0.393000	0.25936	AGG		0.657	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			T	17073382	C	T	17073382	3	4	652	1	0	0	0	0	1	0	0	0	2963	681	24	2	1618	2	CCT8L2	22	17073382	Missense_Mutation	SNP	C	TCGA-G7-7501-01A-11D-2201-08		17073382	34231184	37	35479											
TRPC5	7224	hgsc.bcm.edu	37	X	111090414	111090416	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08	TCA	TCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chrX:111090414_111090416delTCA	ENST00000262839.2	-	6	2544_2546	c.1626_1628delTGA	c.(1624-1629)tatgaa>taa	p.542_543YE>*		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	542					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCTCTGGTTTCATAATAGAAGT	0.433																																																0																																										SO:0001651	inframe_deletion	7224			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1626_1628delTGA	chrX.hg19:g.111090414_111090416delTCA	ENSP00000262839:p.Tyr542_Glu543delins*		B2RP53|O75233|Q5JXY8|Q9Y514	In_Frame_Del	DEL	ENST00000262839.2	hg19	CCDS14561.1																																																																																				0.433	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		-	111090416	TCA	-	111090414	7	5	652	1	0	1	0	1	0	0	0	0	16587	1783	62	0	1317	0	TRPC5	23	111090414	In_Frame_Del	DEL	TCA	TCGA-G7-7501-01A-11D-2201-08		111090414	44180146	38	35480											
PTAFR	5724	hgsc.bcm.edu	37	1	28477260	28477260	+	Silent	SNP	G	G	A	rs146920734		TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr1:28477260G>A	ENST00000373857.3	-	2	907	c.273C>T	c.(271-273)aaC>aaT	p.N91N	PTAFR_ENST00000539896.1_Silent_p.N91N|PTAFR_ENST00000305392.3_Silent_p.N91N	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	91					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCAGCCACGTTGCACAGGA	0.522																																																0								G	,,,	3,4403	8.1+/-20.4	0,3,2200	158	133	141		273,273,273,273	-1.6	0.1	1	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTAFR	NM_000952.4,NM_001164721.1,NM_001164722.2,NM_001164723.2	,,,	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	,,,	91/343,91/343,91/343,91/343	28477260	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5724			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"GPCR / Class A : Platelet-activating factor receptors"	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.273C>T	chr1.hg19:g.28477260G>A			A3KMC8|A8K2H5	Silent	SNP	ENST00000373857.3	hg19	CCDS318.1																																																																																				0.522	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		A	28477260	G	A	28477260	2	1	653	1	0	0	0	0	0	0	0	1	12728	1136	40	1		1	PTAFR	1	28477260	Silent	SNP	G	TCGA-G7-7502-01A-11D-2201-08		28477260	220773361	1	35481											
MECR	51102	hgsc.bcm.edu	37	1	29520539	29520539	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr1:29520539T>A	ENST00000263702.6	-	10	1142	c.1117A>T	c.(1117-1119)Atg>Ttg	p.M373L	MECR_ENST00000373791.3_Missense_Mutation_p.M297L			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	373				M -> I (in Ref. 2; CAG32984). {ECO:0000305}.	fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GATGATCACATGGTGAGAATC	0.597																																																0													87	89	88					1																	29520539		2203	4300	6503	SO:0001583	missense	51102				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.1117A>T	chr1.hg19:g.29520539T>A	ENSP00000263702:p.Met373Leu		B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	hg19	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.969746	0.53614	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.03094	4.05;4.12	5.61	5.61	0.85477	.	0.129329	0.64402	D	0.000001	T	0.06325	0.0163	M	0.66939	2.045	0.49798	D	0.999822	B	0.12630	0.006	B	0.14578	0.011	T	0.27226	-1.0080	10	0.19147	T	0.46	.	13.7585	0.62950	0.0:0.0:0.0:1.0	.	373	Q9BV79	MECR_HUMAN	L	297;373	ENSP00000362896:M297L;ENSP00000263702:M373L	ENSP00000263702:M373L	M	-	1	0	MECR	29393126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.236000	0.32683	2.143000	0.66587	0.533000	0.62120	ATG		0.597	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		A	29520539	T	A	29520539	3	1	653	1	0	0	0	0	1	0	0	0	9426	1464	51	5	8	5	MECR	1	29520539	Missense_Mutation	SNP	T	TCGA-G7-7502-01A-11D-2201-08	1043279	29520539	219730082	2	35482											
CDCA8	55143	hgsc.bcm.edu	37	1	38174030	38174030	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr1:38174030C>T	ENST00000373055.1	+	10	1108	c.835C>T	c.(835-837)Cac>Tac	p.H279Y	CDCA8_ENST00000327331.2_Missense_Mutation_p.H279Y	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	279					chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATACGGACCCACAAATGAGA	0.483																																																0													131	125	127					1																	38174030		2203	4300	6503	SO:0001583	missense	55143			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"borealin"	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.835C>T	chr1.hg19:g.38174030C>T	ENSP00000362146:p.His279Tyr		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	ENST00000373055.1	hg19	CCDS424.1	.	.	.	.	.	.	.	.	.	.	C	6.465	0.453973	0.12283	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.46063	0.88;0.88	5.48	2.55	0.30701	.	1.036760	0.07555	N	0.916095	T	0.26159	0.0638	N	0.22421	0.69	0.25891	N	0.983472	B	0.02656	0.0	B	0.01281	0.0	T	0.27640	-1.0068	10	0.22706	T	0.39	-2.4563	3.8562	0.08976	0.1641:0.5775:0.1703:0.0881	.	279	Q53HL2	BOREA_HUMAN	Y	279	ENSP00000362146:H279Y;ENSP00000316121:H279Y	ENSP00000316121:H279Y	H	+	1	0	CDCA8	37946617	0.989000	0.36119	0.332000	0.25469	0.213000	0.24496	0.321000	0.19558	0.402000	0.25451	0.650000	0.86243	CAC		0.483	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		T	38174030	C	T	38174030	3	4	653	1	0	0	0	0	1	0	0	0	3094	594	21	2	873	2	CDCA8	1	38174030	Missense_Mutation	SNP	C	TCGA-G7-7502-01A-11D-2201-08	8653491	38174030	211076591	3	35483											
LRRC40	55631	hgsc.bcm.edu	37	1	70671136	70671136	+	Missense_Mutation	SNP	C	C	G	rs368762009		TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr1:70671136C>G	ENST00000370952.3	-	1	167	c.88G>C	c.(88-90)Ggg>Cgg	p.G30R	SRSF11_ENST00000370950.3_5'Flank|SRSF11_ENST00000454435.2_5'Flank|SRSF11_ENST00000370951.1_5'Flank|SRSF11_ENST00000405432.1_5'Flank	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	30						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTCAACAGCCCTTGGGGTACC	0.562																																																0													91	82	85					1																	70671136		2203	4300	6503	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.88G>C	chr1.hg19:g.70671136C>G	ENSP00000359990:p.Gly30Arg		Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	hg19	CCDS646.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858799	0.71834	.	.	ENSG00000066557	ENST00000370952	T	0.25085	1.82	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.35854	1.095	0.58432	D	0.999997	D	0.89917	1.0	D	0.76575	0.988	T	0.01679	-1.1297	10	0.17832	T	0.49	.	14.1132	0.65137	0.0:1.0:0.0:0.0	.	30	Q9H9A6	LRC40_HUMAN	R	30	ENSP00000359990:G30R	ENSP00000359990:G30R	G	-	1	0	LRRC40	70443724	1.000000	0.71417	0.998000	0.56505	0.271000	0.26615	4.265000	0.58865	2.703000	0.92315	0.563000	0.77884	GGG		0.562	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		G	70671136	C	G	70671136	3	3	653	1	0	0	0	0	1	0	0	0	9000	681	24	4	1780	4	LRRC40	1	70671136	Missense_Mutation	SNP	C	TCGA-G7-7502-01A-11D-2201-08	32497106	70671136	178579485	4	35484											
OR6K2	81448	hgsc.bcm.edu	37	1	158669896	158669896	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr1:158669896C>T	ENST00000359610.2	-	1	590	c.547G>A	c.(547-549)Gtg>Atg	p.V183M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGACGCAGCACTGGGAGGAAG	0.478																																																0													133	112	119					1																	158669896		2203	4300	6503	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.547G>A	chr1.hg19:g.158669896C>T	ENSP00000352626:p.Val183Met		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	hg19	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489601	0.44249	.	.	ENSG00000196171	ENST00000359610	T	0.00231	8.49	5.09	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.438834	0.16622	N	0.206443	T	0.00109	0.0003	M	0.66939	2.045	0.09310	N	1	B	0.31893	0.345	B	0.43360	0.417	T	0.34254	-0.9836	10	0.72032	D	0.01	-4.3506	3.0153	0.06058	0.2617:0.4934:0.1539:0.091	.	183	Q8NGY2	OR6K2_HUMAN	M	183	ENSP00000352626:V183M	ENSP00000352626:V183M	V	-	1	0	OR6K2	156936520	0.000000	0.05858	0.982000	0.44146	0.993000	0.82548	-1.509000	0.02264	1.348000	0.45733	0.655000	0.94253	GTG		0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		T	158669896	C	T	158669896	3	4	653	1	0	0	0	0	1	0	0	0	11204	565	20	2	431	2	OR6K2	1	158669896	Missense_Mutation	SNP	C	TCGA-G7-7502-01A-11D-2201-08	87998760	158669896	90580725	5	35485											
PAPPA2	60676	hgsc.bcm.edu	37	1	176740277	176740277	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr1:176740277G>T	ENST00000367662.3	+	17	5840	c.4676G>T	c.(4675-4677)gGg>gTg	p.G1559V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1559	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCAAACCAGGGTACTATGTG	0.478																																																0													96	90	92					1																	176740277		2009	4181	6190	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4676G>T	chr1.hg19:g.176740277G>T	ENSP00000356634:p.Gly1559Val		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	hg19	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439678	0.83885	.	.	ENSG00000116183	ENST00000367662	T	0.77358	-1.09	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.88544	0.6465	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89575	0.3816	10	0.87932	D	0	-23.6151	18.0257	0.89268	0.0:0.0:1.0:0.0	.	1559	Q9BXP8	PAPP2_HUMAN	V	1559	ENSP00000356634:G1559V	ENSP00000356634:G1559V	G	+	2	0	PAPPA2	175006900	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.050000	0.93843	2.592000	0.87571	0.655000	0.94253	GGG		0.478	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			T	176740277	G	T	176740277	3	4	653	1	0	0	0	0	1	0	0	0	11435	1232	43	4	4791	4	PAPPA2	1	176740277	Missense_Mutation	SNP	G	TCGA-G7-7502-01A-11D-2201-08	18070381	176740277	72510344	6	35486											
FAM5B	57795	hgsc.bcm.edu	37	1	177250648	177250648	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr1:177250648G>A	ENST00000361539.4	+	8	2648	c.2336G>A	c.(2335-2337)gGc>gAc	p.G779D	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	779					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TATGAGACCGGCAAACTCTGT	0.537																																																0													68	73	71					1																	177250648		2203	4300	6503	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2336G>A	chr1.hg19:g.177250648G>A	ENSP00000354481:p.Gly779Asp		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	hg19	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676710	0.47886	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14266	2.52	5.05	5.05	0.67936	.	0.186815	0.46758	D	0.000278	T	0.13329	0.0323	N	0.22421	0.69	0.45183	D	0.998193	P;P	0.44429	0.835;0.759	P;B	0.44990	0.466;0.19	T	0.02668	-1.1126	10	0.52906	T	0.07	-23.4177	13.7174	0.62705	0.0:0.1546:0.8454:0.0	.	674;779	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	D	532;779	ENSP00000354481:G779D	ENSP00000354481:G779D	G	+	2	0	FAM5B	175517271	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	4.714000	0.61902	2.346000	0.79739	0.313000	0.20887	GGC		0.537	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		A	177250648	G	A	177250648	3	1	653	1	0	0	0	0	1	0	0	0	5595	1203	42	2	2362	2	FAM5B	1	177250648	Missense_Mutation	SNP	G	TCGA-G7-7502-01A-11D-2201-08	510371	177250648	71999973	7	35487											
CFHR3	10878	hgsc.bcm.edu	37	1	196762616	196762617	+	Missense_Mutation	DNP	GA	GA	TT	rs149081467	byFrequency	TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr1:196762616_196762617GA>TT	ENST00000367425.4	+	6	1058_1059	c.966_967GA>TT	c.(964-969)ggGAta>ggTTta	p.I323L	CFHR3_ENST00000391985.3_Missense_Mutation_p.I262L	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	323	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GTCGGGAAGGGATAGTGGAATA	0.381																																																0																																										SO:0001583	missense	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	Exception_encountered	chr1.hg19:g.196762616_196762617delinsTT	ENSP00000356395:p.Ile323Leu		B4DPR0|Q9UJ16	Silent|Missense_Mutation	SNP	ENST00000367425.4	hg19	CCDS30958.1																																																																																				0.381	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		TT	196762617	GA	TT	196762616	3	4	653	1	0	0	0	0	1	0	0	0	3288	1161	41	4	988	4	CFHR3	1	196762616	Missense_Mutation	DNP	GA	TCGA-G7-7502-01A-11D-2201-08	19511968	196762616	52488005	8	35488											
KDM3A	55818	hgsc.bcm.edu	37	2	86716748	86716749	+	In_Frame_Ins	INS	-	-	GGG			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr2:86716748_86716749insGGG	ENST00000409556.1	+	24	3904_3905	c.3539_3540insGGG	c.(3538-3543)aaggac>aaGGGggac	p.1180_1181KD>KGD	KDM3A_ENST00000542128.1_In_Frame_Ins_p.1128_1129KD>KGD|KDM3A_ENST00000409064.1_In_Frame_Ins_p.1180_1181KD>KGD|KDM3A_ENST00000312912.5_In_Frame_Ins_p.1180_1181KD>KGD			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1180	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TATGCTGCAAAGGACACGGAGA	0.406																																					NSCLC(96;1150 1523 6936 46253 49736)											0																																										SO:0001652	inframe_insertion	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	Exception_encountered	chr2.hg19:g.86716748_86716749insGGG	ENSP00000386660:p.Lys1180_Asp1181insGly		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	In_Frame_Ins	INS	ENST00000409556.1	hg19	CCDS1990.1																																																																																				0.406	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		GGG	86716749	-	GGG	86716748	7	5	653	1	0	1	1	0	0	0	0	0	8128	72	3	0	3625	0	KDM3A	2	86716748	In_Frame_Ins	INS	-	TCGA-G7-7502-01A-11D-2201-08		86716748	156482625	9	35489											
STK36	27148	hgsc.bcm.edu	37	2	219556970	219556970	+	Silent	SNP	C	C	G			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr2:219556970C>G	ENST00000295709.3	+	15	2148	c.1869C>G	c.(1867-1869)ctC>ctG	p.L623L	STK36_ENST00000392105.3_Silent_p.L623L|STK36_ENST00000392106.2_Silent_p.L623L|STK36_ENST00000440309.1_Silent_p.L623L	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TGGATGGGCTCCTTCATGGCT	0.537																																																0													90	95	93					2																	219556970		2203	4300	6503	SO:0001819	synonymous_variant	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1869C>G	chr2.hg19:g.219556970C>G				Silent	SNP	ENST00000295709.3	hg19	CCDS2421.1																																																																																				0.537	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			G	219556970	C	G	219556970	2	3	653	1	0	0	0	0	0	0	0	1	15307	842	30	4		4	STK36	2	219556970	Silent	SNP	C	TCGA-G7-7502-01A-11D-2201-08	132840222	219556970	23642403	10	35490											
ECEL1	9427	hgsc.bcm.edu	37	2	233350797	233350797	+	Silent	SNP	G	G	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr2:233350797G>A	ENST00000304546.1	-	2	777	c.567C>T	c.(565-567)gaC>gaT	p.D189D	ECEL1_ENST00000409941.1_Silent_p.D189D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	189					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCTCGCGCATGTCGAGGCACG	0.746																																																0																																										SO:0001819	synonymous_variant	9427			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.567C>T	chr2.hg19:g.233350797G>A			Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	hg19	CCDS2493.1																																																																																				0.746	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		A	233350797	G	A	233350797	2	1	653	1	0	0	0	0	0	0	0	1	4893	1368	48	2		2	ECEL1	2	233350797	Silent	SNP	G	TCGA-G7-7502-01A-11D-2201-08	13793827	233350797	9848576	11	35491											
JAGN1	84522	hgsc.bcm.edu	37	3	9934676	9934676	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr3:9934676G>A	ENST00000307768.4	+	2	336	c.167G>A	c.(166-168)aGc>aAc	p.S56N		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					GCTAAGATGAGCGTGGGACAC	0.512																																																0													158	132	141					3																	9934676		2203	4300	6503	SO:0001583	missense	84522			AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.167G>A	chr3.hg19:g.9934676G>A	ENSP00000306106:p.Ser56Asn			Missense_Mutation	SNP	ENST00000307768.4	hg19	CCDS2588.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434837	0.25813	.	.	ENSG00000171135	ENST00000307768;ENST00000543379	.	.	.	5.24	3.34	0.38264	.	0.446433	0.27754	N	0.017994	T	0.36220	0.0959	L	0.36672	1.1	0.20638	N	0.999878	B	0.17667	0.023	B	0.24541	0.054	T	0.21655	-1.0239	9	0.26408	T	0.33	-15.5227	10.1674	0.42888	0.0:0.1322:0.5948:0.2731	.	56	Q8N5M9	JAGN1_HUMAN	N	56	.	ENSP00000306106:S56N	S	+	2	0	JAGN1	9909676	0.775000	0.28604	0.992000	0.48379	0.966000	0.64601	1.530000	0.36007	0.514000	0.28300	0.313000	0.20887	AGC		0.512	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	NM_032492		A	9934676	G	A	9934676	3	1	653	1	0	0	0	0	1	0	0	0	7938	971	34	2	173	2	JAGN1	3	9934676	Missense_Mutation	SNP	G	TCGA-G7-7502-01A-11D-2201-08		9934676	188087754	12	35492											
DAG1	1605	hgsc.bcm.edu	37	3	49568641	49568641	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr3:49568641delA	ENST00000539901.1	+	3	1255	c.697delA	c.(697-699)aacfs	p.N233fs	DAG1_ENST00000538711.1_Frame_Shift_Del_p.N233fs|DAG1_ENST00000541308.1_Frame_Shift_Del_p.N233fs|DAG1_ENST00000308775.2_Frame_Shift_Del_p.N233fs|DAG1_ENST00000545947.1_Frame_Shift_Del_p.N233fs|DAG1_ENST00000515359.2_Frame_Shift_Del_p.N233fs	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	233	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGTGGTGAATAACAGACTATT	0.522																																																0													72	77	75					3																	49568641		2203	4300	6503	SO:0001589	frameshift_variant	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.697delA	chr3.hg19:g.49568641delA	ENSP00000439334:p.Asn233fs		A8K6M7|Q969J9	Frame_Shift_Del	DEL	ENST00000539901.1	hg19	CCDS2799.1																																																																																				0.522	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			-	49568641	A	-	49568641	7	5	653	1	0	1	0	1	0	0	0	0	4227	362	13	0	703	0	DAG1	3	49568641	Frame_Shift_Del	DEL	A	TCGA-G7-7502-01A-11D-2201-08	39633965	49568641	148453789	13	35493											
APEH	327	hgsc.bcm.edu	37	3	49720689	49720689	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr3:49720689A>G	ENST00000296456.5	+	22	2513	c.2113A>G	c.(2113-2115)Agc>Ggc	p.S705G	APEH_ENST00000438011.1_Missense_Mutation_p.S710G|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	705					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTATCCCAAAAGCACCCACGC	0.557																																																0													188	196	193					3																	49720689		2203	4300	6503	SO:0001583	missense	327			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.2113A>G	chr3.hg19:g.49720689A>G	ENSP00000296456:p.Ser705Gly		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	hg19	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180168	0.38511	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.32753	1.44;1.44	5.75	5.75	0.90469	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.129744	0.64402	D	0.000001	T	0.20129	0.0484	N	0.17278	0.47	0.37781	D	0.927029	B;B	0.10296	0.003;0.002	B;B	0.15052	0.012;0.006	T	0.08269	-1.0730	10	0.48119	T	0.1	-38.9892	10.7009	0.45926	0.9202:0.0:0.0798:0.0	.	710;705	C9JIF9;P13798	.;ACPH_HUMAN	G	705;710	ENSP00000296456:S705G;ENSP00000415862:S710G	ENSP00000296456:S705G	S	+	1	0	APEH	49695693	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.552000	0.53705	2.192000	0.70111	0.459000	0.35465	AGC		0.557	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			G	49720689	A	G	49720689	3	3	653	1	0	0	0	0	1	0	0	0	768	72	3	3	2199	3	APEH	3	49720689	Missense_Mutation	SNP	A	TCGA-G7-7502-01A-11D-2201-08	152048	49720689	148301741	14	35494											
ACY1	95	hgsc.bcm.edu	37	3	52022538	52022538	+	Splice_Site	SNP	A	A	C			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr3:52022538A>C	ENST00000404366.2	+	13	1067		c.e13-1		ABHD14A-ACY1_ENST00000463937.1_Splice_Site|ACY1_ENST00000494103.1_Splice_Site|ACY1_ENST00000476351.1_Splice_Site|ACY1_ENST00000458031.2_Splice_Site|ACY1_ENST00000476854.1_Splice_Site	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1						cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CCTGTCCCTCAGAAGTGGATG	0.562																																																0													103	86	92					3																	52022538		2203	4300	6503	SO:0001630	splice_region_variant	95			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.922-1A>C	chr3.hg19:g.52022538A>C			C9J6I6|C9J9D8|C9JWD4	Splice_Site	SNP	ENST00000404366.2	hg19	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.321906	0.41096	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0907	0.72192	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACY1;RP11-155D18.11	51997578	1.000000	0.71417	0.993000	0.49108	0.278000	0.26855	8.943000	0.92975	2.048000	0.60808	0.459000	0.35465	.		0.562	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666	Intron	C	52022538	A	C	52022538	5	2	653	1	0	0	0	0	0	0	1	0	226	202	7	5	966	5	ACY1	3	52022538	Splice_Site	SNP	A	TCGA-G7-7502-01A-11D-2201-08	2301849	52022538	145999892	15	35495											
STAB1	23166	hgsc.bcm.edu	37	3	52554291	52554291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr3:52554291C>A	ENST00000321725.6	+	52	5560	c.5484C>A	c.(5482-5484)tgC>tgA	p.C1828*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1828	FAS1 6. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTTTCTCCTGCAGCCGAACGC	0.632																																																0													82	83	83					3																	52554291		2203	4300	6503	SO:0001587	stop_gained	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5484C>A	chr3.hg19:g.52554291C>A	ENSP00000312946:p.Cys1828*		A7E297|Q8IUH0|Q8IUH1|Q93072	Nonsense_Mutation	SNP	ENST00000321725.6	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	40	8.313466	0.98754	.	.	ENSG00000010327	ENST00000321725	.	.	.	6.07	0.741	0.18336	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5698	0.22533	0.1187:0.5434:0.0:0.3378	.	.	.	.	X	1828	.	ENSP00000312946:C1828X	C	+	3	2	STAB1	52529331	0.999000	0.42202	0.997000	0.53966	0.055000	0.15305	0.493000	0.22451	0.463000	0.27118	-0.126000	0.14955	TGC		0.632	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		A	52554291	C	A	52554291	4	1	653	1	0	0	0	0	0	1	0	0	15242	718	25	4	5690	4	STAB1	3	52554291	Nonsense_Mutation	SNP	C	TCGA-G7-7502-01A-11D-2201-08	531753	52554291	145468139	16	35496											
MYH15	22989	hgsc.bcm.edu	37	3	108110610	108110610	+	Silent	SNP	G	G	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr3:108110610G>A	ENST00000273353.3	-	38	5543	c.5487C>T	c.(5485-5487)tcC>tcT	p.S1829S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1829						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCCTACCCTGGATTCTAGTT	0.473																																																0													183	184	183					3																	108110610		1923	4132	6055	SO:0001819	synonymous_variant	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5487C>T	chr3.hg19:g.108110610G>A				Silent	SNP	ENST00000273353.3	hg19	CCDS43127.1																																																																																				0.473	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		A	108110610	G	A	108110610	2	1	653	1	0	0	0	0	0	0	0	1	10036	1335	47	2		2	MYH15	3	108110610	Silent	SNP	G	TCGA-G7-7502-01A-11D-2201-08	55556319	108110610	89911820	17	35497											
FAM162A	26355	hgsc.bcm.edu	37	3	122128621	122128621	+	Silent	SNP	C	C	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr3:122128621C>T	ENST00000477892.1	+	5	492	c.408C>T	c.(406-408)aaC>aaT	p.N136N	FAM162A_ENST00000232125.5_Silent_p.N126N	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	136					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						CAAGCTTGAACTTAGAAAAGA	0.438																																																0													108	98	101					3																	122128621		1886	4118	6004	SO:0001819	synonymous_variant	26355			AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"chromosome 3 open reading frame 28"	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.408C>T	chr3.hg19:g.122128621C>T			Q9NRN6|Q9UJX8	Silent	SNP	ENST00000477892.1	hg19	CCDS43139.1	.	.	.	.	.	.	.	.	.	.	C	6.587	0.476718	0.12521	.	.	ENSG00000114023	ENST00000440333	.	.	.	5.44	3.65	0.41850	.	.	.	.	.	T	0.64080	0.2566	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64732	-0.6338	5	0.72032	D	0.01	.	8.2172	0.31519	0.0:0.8217:0.0:0.1783	.	.	.	.	F	135	.	ENSP00000405770:L135F	L	+	1	0	FAM162A	123611311	0.995000	0.38212	1.000000	0.80357	0.745000	0.42441	1.364000	0.34171	0.857000	0.35407	0.655000	0.94253	CTT		0.438	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		T	122128621	C	T	122128621	2	4	653	1	0	0	0	0	0	0	0	1	5476	564	20	2		2	FAM162A	3	122128621	Silent	SNP	C	TCGA-G7-7502-01A-11D-2201-08	14018011	122128621	75893809	18	35498											
ATR	545	hgsc.bcm.edu	37	3	142238533	142238533	+	Silent	SNP	G	G	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr3:142238533G>A	ENST00000350721.4	-	24	4481	c.4360C>T	c.(4360-4362)Cta>Tta	p.L1454L	ATR_ENST00000383101.3_Silent_p.L1390L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1454					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGAGGTTCTAGTATTTCCCGA	0.363								Other conserved DNA damage response genes																																								0													118	118	118					3																	142238533		2203	4300	6503	SO:0001819	synonymous_variant	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4360C>T	chr3.hg19:g.142238533G>A			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	hg19	CCDS3124.1																																																																																				0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		A	142238533	G	A	142238533	2	1	653	1	0	0	0	0	0	0	0	1	1204	1020	36	2		2	ATR	3	142238533	Silent	SNP	G	TCGA-G7-7502-01A-11D-2201-08	20109912	142238533	55783897	19	35499											
N4BP2	55728	hgsc.bcm.edu	37	4	40122970	40122970	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr4:40122970delA	ENST00000261435.6	+	9	3655	c.3239delA	c.(3238-3240)gaafs	p.E1080fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1080					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTTGTTGAAGAAAGTGAGCTT	0.338																																																0													75	81	79					4																	40122970		2201	4300	6501	SO:0001589	frameshift_variant	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3239delA	chr4.hg19:g.40122970delA	ENSP00000261435:p.Glu1080fs		A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Del	DEL	ENST00000261435.6	hg19	CCDS3457.1																																																																																				0.338	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		-	40122970	A	-	40122970	7	5	653	1	0	1	0	1	0	0	0	0	10112	246	9	0	3265	0	N4BP2	4	40122970	Frame_Shift_Del	DEL	A	TCGA-G7-7502-01A-11D-2201-08		40122970	151031306	20	35500											
EHMT2	10919	hgsc.bcm.edu	37	6	31864742	31864742	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr6:31864742C>A	ENST00000375537.4	-	2	73	c.67G>T	c.(67-69)Gcg>Tcg	p.A23S	EHMT2_ENST00000375530.4_Missense_Mutation_p.A23S|C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.A80S|EHMT2_ENST00000395728.3_Missense_Mutation_p.A80S|EHMT2_ENST00000480912.1_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	23					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGCAGCAGCGCCCCCATCTCA	0.637																																																0													129	130	130					6																	31864742		1511	2709	4220	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.67G>T	chr6.hg19:g.31864742C>A	ENSP00000364687:p.Ala23Ser		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	hg19	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673198	0.29693	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537	T;T;T;T	0.76968	-0.73;-1.06;-0.98;-0.68	3.79	1.93	0.25924	.	0.364320	0.20081	N	0.099658	T	0.38957	0.1060	N	0.08118	0	0.22531	N	0.999013	B;P;B;B	0.50819	0.03;0.939;0.05;0.03	B;B;B;B	0.43867	0.017;0.434;0.025;0.002	T	0.32798	-0.9893	10	0.51188	T	0.08	.	5.6198	0.17451	0.0:0.7389:0.0:0.261	.	80;23;23;23	A2ABF8;Q96KQ7-3;Q96KQ7-2;Q96KQ7	.;.;.;EHMT2_HUMAN	S	80;80;23;23	ENSP00000379078:A80S;ENSP00000364678:A80S;ENSP00000364680:A23S;ENSP00000364687:A23S	ENSP00000364678:A80S	A	-	1	0	EHMT2	31972721	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	1.196000	0.32198	0.735000	0.32537	-0.361000	0.07541	GCG		0.637	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		A	31864742	C	A	31864742	3	1	653	1	0	0	0	0	1	0	0	0	4986	739	26	4	3673	4	EHMT2	6	31864742	Missense_Mutation	SNP	C	TCGA-G7-7502-01A-11D-2201-08		31864742	139250325	21	35501											
BRD2	6046	hgsc.bcm.edu	37	6	32945266	32945266	+	Silent	SNP	T	T	C			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr6:32945266T>C	ENST00000374825.4	+	8	2949	c.1248T>C	c.(1246-1248)gcT>gcC	p.A416A	BRD2_ENST00000395287.1_Silent_p.A416A|BRD2_ENST00000374831.4_Silent_p.A416A|BRD2_ENST00000449085.2_Silent_p.A369A|BRD2_ENST00000443797.2_Silent_p.A296A|BRD2_ENST00000395289.2_Silent_p.A416A	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	416	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						AGTTTGCTGCTGATGTACGGC	0.517																																																0													279	225	244					6																	32945266		1511	2708	4219	SO:0001819	synonymous_variant	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1248T>C	chr6.hg19:g.32945266T>C			A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Silent	SNP	ENST00000374825.4	hg19	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	T	9.651	1.141473	0.21205	.	.	ENSG00000204256	ENST00000449025	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	T	0.55337	0.1914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56360	-0.7992	4	.	.	.	-14.7189	13.1555	0.59514	0.0:0.0:0.0:1.0	.	.	.	.	P	422	.	.	L	+	2	0	BRD2	33053244	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.370000	0.20433	2.205000	0.71048	0.523000	0.50628	CTG		0.517	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			C	32945266	T	C	32945266	2	2	653	1	0	0	0	0	0	0	0	1	1504	1567	55	3		3	BRD2	6	32945266	Silent	SNP	T	TCGA-G7-7502-01A-11D-2201-08	1080524	32945266	138169801	22	35502											
DNAH8	1769	hgsc.bcm.edu	37	6	38913344	38913344	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr6:38913344T>C	ENST00000359357.3	+	78	11712	c.11458T>C	c.(11458-11460)Ttt>Ctt	p.F3820L	DNAH8_ENST00000449981.2_Missense_Mutation_p.F4037L|DNAH8_ENST00000441566.1_Missense_Mutation_p.F3784L|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3820					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTTCCACAATTTGCAGAAAT	0.488																																																0													96	95	96					6																	38913344		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11458T>C	chr6.hg19:g.38913344T>C	ENSP00000352312:p.Phe3820Leu		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	T	26.7	4.762200	0.89932	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.10382	2.88;2.88;2.88	5.59	5.59	0.84812	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.20706	-1.0267	10	0.62326	D	0.03	.	15.7453	0.77936	0.0:0.0:0.0:1.0	.	3784;3820	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	L	4025;4025;3820;3784	ENSP00000333363:F4025L;ENSP00000352312:F3820L;ENSP00000402294:F3784L	ENSP00000333363:F4025L	F	+	1	0	DNAH8	39021322	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	7.948000	0.87774	2.129000	0.65627	0.459000	0.35465	TTT		0.488	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		C	38913344	T	C	38913344	3	2	653	1	0	0	0	0	1	0	0	0	4609	1493	52	3	11760	3	DNAH8	6	38913344	Missense_Mutation	SNP	T	TCGA-G7-7502-01A-11D-2201-08	5968078	38913344	132201723	23	35503											
SLC35B2	347734	hgsc.bcm.edu	37	6	44224125	44224125	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr6:44224125G>C	ENST00000393812.3	-	3	457	c.314C>G	c.(313-315)cCg>cGg	p.P105R	SLC35B2_ENST00000393810.1_Intron|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000538577.1_Intron|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	105					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCCACATCGGGGTGGTCTC	0.627																																																0													58	67	64					6																	44224125		2203	4300	6503	SO:0001583	missense	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.314C>G	chr6.hg19:g.44224125G>C	ENSP00000377401:p.Pro105Arg		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	hg19	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752871	0.31046	.	.	ENSG00000157593	ENST00000393812;ENST00000341553	T	0.30714	1.52	4.26	3.35	0.38373	.	0.419213	0.26176	N	0.025884	T	0.08935	0.0221	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06826	-1.0805	10	0.22109	T	0.4	-29.8524	15.4721	0.75446	0.0:0.1512:0.8488:0.0	.	105	Q8TB61	S35B2_HUMAN	R	105	ENSP00000377401:P105R	ENSP00000342455:P105R	P	-	2	0	SLC35B2	44332103	1.000000	0.71417	0.889000	0.34880	0.859000	0.49053	7.270000	0.78493	2.191000	0.70037	0.561000	0.74099	CCG		0.627	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			C	44224125	G	C	44224125	3	2	653	1	0	0	0	0	1	0	0	0	14582	1116	39	4	992	4	SLC35B2	6	44224125	Missense_Mutation	SNP	G	TCGA-G7-7502-01A-11D-2201-08	5310781	44224125	126890942	24	35504											
MOXD1	26002	hgsc.bcm.edu	37	6	132694134	132694134	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr6:132694134A>C	ENST00000367963.3	-	3	532	c.414T>G	c.(412-414)gaT>gaG	p.D138E	MOXD1_ENST00000336749.3_Missense_Mutation_p.D70E	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	138	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCACAGTGCTATCCTGGGGAT	0.458																																																0													100	89	92					6																	132694134		2203	4300	6503	SO:0001583	missense	26002			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.414T>G	chr6.hg19:g.132694134A>C	ENSP00000356940:p.Asp138Glu		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	hg19	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	A	4.845	0.157121	0.09236	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.77750	-1.12;-1.12	5.3	0.0261	0.14148	DOMON domain (3);	0.440036	0.24074	N	0.041793	T	0.17195	0.0413	N	0.02129	-0.67	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.37842	-0.9688	10	0.02654	T	1	-26.2778	1.3667	0.02202	0.1886:0.3795:0.1103:0.3217	.	138;70	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	E	138;70	ENSP00000356940:D138E;ENSP00000336998:D70E	ENSP00000336998:D70E	D	-	3	2	MOXD1	132735827	0.665000	0.27466	0.999000	0.59377	0.974000	0.67602	-0.336000	0.07863	0.084000	0.17077	0.528000	0.53228	GAT		0.458	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		C	132694134	A	C	132694134	3	2	653	1	0	0	0	0	1	0	0	0	9722	446	16	5	1467	5	MOXD1	6	132694134	Missense_Mutation	SNP	A	TCGA-G7-7502-01A-11D-2201-08	88470009	132694134	38420933	25	35505											
TXLNB	167838	hgsc.bcm.edu	37	6	139563747	139563747	+	Silent	SNP	T	T	C			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr6:139563747T>C	ENST00000358430.3	-	10	2203	c.1971A>G	c.(1969-1971)gcA>gcG	p.A657A	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	657						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CCTCTGCTGCTGCTCGTGGGG	0.642																																																0													47	53	51					6																	139563747		2203	4300	6503	SO:0001819	synonymous_variant	167838				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1971A>G	chr6.hg19:g.139563747T>C			Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	hg19	CCDS34545.1																																																																																				0.642	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		C	139563747	T	C	139563747	2	2	653	1	0	0	0	0	0	0	0	1	16793	1567	55	3		3	TXLNB	6	139563747	Silent	SNP	T	TCGA-G7-7502-01A-11D-2201-08	6869613	139563747	31551320	26	35506											
HOXA10	3206	hgsc.bcm.edu	37	7	27211695	27211695	+	Silent	SNP	C	C	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr7:27211695C>T	ENST00000283921.4	-	2	1055	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	MIR196B_ENST00000384852.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'UTR|HOXA9_ENST00000497089.1_5'Flank|HOXA10_ENST00000396344.4_Silent_p.E36E|HOXA-AS4_ENST00000519694.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000523790.1_RNA	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	352					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						GAAACTCCTTCTCCAGCTCCA	0.532																																																0													111	105	107					7																	27211695		2203	4300	6503	SO:0001819	synonymous_variant	3206				CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"Homeoboxes / ANTP class : HOXL subclass"	5100	protein-coding gene	gene with protein product		142957	"homeo box A10"	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.1056G>A	chr7.hg19:g.27211695C>T			O43370|O43605|Q15949|Q504T1	Silent	SNP	ENST00000283921.4	hg19	CCDS5410.2																																																																																				0.532	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			T	27211695	C	T	27211695	2	4	653	1	0	0	0	0	0	0	0	1	7291	912	32	2		2	HOXA10	7	27211695	Silent	SNP	C	TCGA-G7-7502-01A-11D-2201-08		27211695	131926968	27	35507											
NRG1	3084	hgsc.bcm.edu	37	8	32463201	32463201	+	Splice_Site	SNP	G	G	A	rs78513616		TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr8:32463201G>A	ENST00000405005.3	+	3	400	c.400G>A	c.(400-402)Gag>Aag	p.E134K	NRG1_ENST00000287845.5_Splice_Site_p.A134T|NRG1_ENST00000287842.3_Splice_Site_p.E134K|NRG1_ENST00000519301.1_Splice_Site_p.A113T|NRG1_ENST00000341377.5_Splice_Site_p.E134K|NRG1_ENST00000356819.4_Splice_Site_p.E134K|NRG1_ENST00000523079.1_Splice_Site_p.E134K|NRG1_ENST00000338921.4_Splice_Site_p.E134K|NRG1_ENST00000521670.1_Splice_Site_p.E134K|NRG1_ENST00000520407.1_Splice_Site_p.A349T			Q02297	NRG1_HUMAN	neuregulin 1	134					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGAATCAAACGGTAAGAGATA	0.398																																																0								G	LYS/GLU,LYS/GLU,THR/ALA,LYS/GLU,LYS/GLU,THR/ALA,THR/ALA,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,THR/ALA,LYS/GLU	0,4406		0,0,2203	143	129	134		337,337,337,400,400,400,400,400,400,400,400,400,400,1045,400	5	1	8	dbSNP_131	134	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	NRG1	NM_001159995.1,NM_001159999.1,NM_001160001.1,NM_001160002.1,NM_001160004.1,NM_001160005.1,NM_001160007.1,NM_001160008.1,NM_004495.3,NM_013956.3,NM_013957.3,NM_013958.3,NM_013960.3,NM_013962.2,NM_013964.3	56,56,58,56,56,58,58,56,56,56,56,56,56,58,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	113/608,113/625,113/591,134/195,134/460,134/208,134/178,134/421,134/212,134/646,134/638,134/242,134/463,349/423,134/641	32463201	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.400+1G>A	chr8.hg19:g.32463201G>A			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	hg19	CCDS6085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.01|13.01	2.108806|2.108806	0.37242|0.37242	0.0|0.0	1.16E-4|1.16E-4	ENSG00000157168|ENSG00000157168	ENST00000519301;ENST00000520407;ENST00000287845|ENST00000518104;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670	T;T;T|T;T;T;T;T;T;T;T;T;T	0.75260|0.39997	-0.92;-0.83;-0.49|1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Immunoglobulin-like fold (1);	.|0.695834	.|0.14318	.|N	.|0.327222	T|T	0.54013|0.54013	0.1832|0.1832	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B;B;B|P;P;P;P;D;P;P;P;P;D	0.32071|0.59767	0.355;0.11;0.22|0.76;0.776;0.614;0.76;0.986;0.733;0.589;0.857;0.863;0.964	B;B;B|B;B;B;B;D;B;B;B;B;P	0.23852|0.68192	0.049;0.01;0.016|0.038;0.079;0.053;0.038;0.956;0.077;0.054;0.165;0.115;0.454	T|T	0.38478|0.38478	-0.9659|-0.9659	9|10	0.02654|0.24483	T|T	1|0.36	-3.1604|-3.1604	16.914|16.914	0.86147|0.86147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	134;133;349|134;134;133;134;134;134;134;134;134;134	F8W9E3;B0FWZ3;Q02297-9|E9PHH4;Q7RTW4;B0FYA9;B7Z4Z3;Q02297-4;Q02297-7;Q02297;Q02297-6;Q02297-3;Q02297-8	.;.;.|.;.;.;.;.;.;NRG1_HUMAN;.;.;.	T|K	113;349;134|113;202;134;134;134;134;134;134;134;134	ENSP00000429582:A113T;ENSP00000434640:A349T;ENSP00000287845:A134T|ENSP00000430053:E113K;ENSP00000429067:E202K;ENSP00000430120:E134K;ENSP00000343395:E134K;ENSP00000349275:E134K;ENSP00000287840:E134K;ENSP00000340497:E134K;ENSP00000287842:E134K;ENSP00000384620:E134K;ENSP00000428828:E134K	ENSP00000287845:A134T|ENSP00000287840:E134K	A|E	+|+	1|1	0|0	NRG1|NRG1	32582743|32582743	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.154000|0.154000	0.21943|0.21943	6.210000|6.210000	0.72176|0.72176	2.485000|2.485000	0.83878|0.83878	0.650000|0.650000	0.86243|0.86243	GCT|GAG		0.398	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		Missense_Mutation	A	32463201	G	A	32463201	5	1	653	1	0	0	0	0	0	0	1	0	10649	1130	39	1	1161	1	NRG1	8	32463201	Splice_Site	SNP	G	TCGA-G7-7502-01A-11D-2201-08		32463201	113900821	28	35508											
GPR124	25960	hgsc.bcm.edu	37	8	37692907	37692907	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr8:37692907C>G	ENST00000412232.2	+	12	1837	c.1824C>G	c.(1822-1824)ttC>ttG	p.F608L	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	608					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGTCGTCCTTCCACATCAAGG	0.682																																																0													19	23	22					8																	37692907		2201	4298	6499	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1824C>G	chr8.hg19:g.37692907C>G	ENSP00000406367:p.Phe608Leu		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	hg19	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	7.845	0.722846	0.15439	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.53857	0.6	5.29	1.44	0.22558	.	0.251562	0.38778	N	0.001564	T	0.36963	0.0986	N	0.17474	0.49	0.47698	D	0.999493	D	0.62365	0.991	P	0.51266	0.664	T	0.25745	-1.0123	10	0.06625	T	0.88	-18.4995	9.5253	0.39160	0.0:0.7051:0.0:0.2949	.	608	Q96PE1	GP124_HUMAN	L	601;608	ENSP00000406367:F608L	ENSP00000406367:F608L	F	+	3	2	GPR124	37812065	1.000000	0.71417	0.905000	0.35620	0.440000	0.31957	1.327000	0.33746	0.231000	0.21079	-0.140000	0.14226	TTC		0.682	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			G	37692907	C	G	37692907	3	3	653	1	0	0	0	0	1	0	0	0	6640	854	30	4	1849	4	GPR124	8	37692907	Missense_Mutation	SNP	C	TCGA-G7-7502-01A-11D-2201-08	5229706	37692907	108671115	29	35509											
GAPVD1	26130	hgsc.bcm.edu	37	9	128121733	128121733	+	Missense_Mutation	SNP	G	G	A	rs374403416		TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr9:128121733G>A	ENST00000495955.1	+	26	4350	c.4060G>A	c.(4060-4062)Gta>Ata	p.V1354I	GAPVD1_ENST00000265956.4_Missense_Mutation_p.V1328I|GAPVD1_ENST00000312123.9_Missense_Mutation_p.V1315I|GAPVD1_ENST00000394083.2_Missense_Mutation_p.V1288I|GAPVD1_ENST00000394104.2_Missense_Mutation_p.V1354I|GAPVD1_ENST00000470056.1_Missense_Mutation_p.V1309I|GAPVD1_ENST00000394105.2_Missense_Mutation_p.V1363I|GAPVD1_ENST00000297933.6_Missense_Mutation_p.V1336I			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1354	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATTGTCTAAAGTAGTGACTGC	0.358																																																0								G	ILE/VAL	0,4406		0,0,2203	140	141	141		4087	6.2	1	9		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	GAPVD1	NM_015635.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1363/1488	128121733	1,13005	2203	4300	6503	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4060G>A	chr9.hg19:g.128121733G>A	ENSP00000419063:p.Val1354Ile		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	hg19		.	.	.	.	.	.	.	.	.	.	G	26.2	4.716877	0.89205	0.0	1.16E-4	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	6.17	6.17	0.99709	Vacuolar sorting protein 9 (1);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.30870	0.118;0.23;0.298;0.298;0.298;0.188	B;B;B;B;B;B	0.42692	0.113;0.082;0.225;0.395;0.225;0.277	T	0.05194	-1.0900	10	0.25106	T	0.35	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1354;369;1309;1315;1336;1363	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	I	1309;1363;1354;1328;1288;1354;1336;1315;47	ENSP00000419767:V1309I;ENSP00000377665:V1363I;ENSP00000377664:V1354I;ENSP00000265956:V1328I;ENSP00000377645:V1288I;ENSP00000419063:V1354I;ENSP00000297933:V1336I;ENSP00000309582:V1315I	ENSP00000265956:V1328I	V	+	1	0	GAPVD1	127161554	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GTA		0.358	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			A	128121733	G	A	128121733	3	1	653	1	0	0	0	0	1	0	0	0	6241	1029	36	2	4181	2	GAPVD1	9	128121733	Missense_Mutation	SNP	G	TCGA-G7-7502-01A-11D-2201-08		128121733	13091698	30	35510											
OLAH	55301	hgsc.bcm.edu	37	10	15107661	15107661	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr10:15107661G>A	ENST00000378228.3	+	6	735	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	OLAH_ENST00000378217.3_Missense_Mutation_p.G214S|OLAH_ENST00000485251.1_3'UTR	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	161					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						GGAATTTGGAGGCACCCCCAA	0.408																																																0													83	77	79					10																	15107661		2203	4300	6503	SO:0001583	missense	55301			AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"thioesterase domain containing 1"	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.481G>A	chr10.hg19:g.15107661G>A	ENSP00000367473:p.Gly161Ser		Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	hg19	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	g	16.13	3.036095	0.54896	.	.	ENSG00000152463	ENST00000429028;ENST00000378228;ENST00000378217	.	.	.	5.03	4.12	0.48240	Thioesterase (1);	0.096919	0.64402	D	0.000001	D	0.84552	0.5497	M	0.92122	3.275	0.52099	D	0.999948	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	D	0.87441	0.2395	9	0.72032	D	0.01	-5.4247	12.2837	0.54779	0.0:0.0:0.8303:0.1697	.	161;214	Q9NV23;Q9NV23-2	SAST_HUMAN;.	S	161;161;214	.	ENSP00000367462:G214S	G	+	1	0	OLAH	15147667	1.000000	0.71417	0.972000	0.41901	0.162000	0.22319	1.630000	0.37081	1.222000	0.43521	0.557000	0.71058	GGC		0.408	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		A	15107661	G	A	15107661	3	1	653	1	0	0	0	0	1	0	0	0	10853	1000	35	2	662	2	OLAH	10	15107661	Missense_Mutation	SNP	G	TCGA-G7-7502-01A-11D-2201-08		15107661	120427086	31	35511											
SLC5A12	159963	hgsc.bcm.edu	37	11	26725363	26725363	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr11:26725363A>C	ENST00000396005.3	-	5	966	c.657T>G	c.(655-657)aaT>aaG	p.N219K	SLC5A12_ENST00000280467.6_Missense_Mutation_p.N219K	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	219					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GTCGAGATCCATTTGTTGATT	0.368																																																0													230	218	222					11																	26725363		2203	4299	6502	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.657T>G	chr11.hg19:g.26725363A>C	ENSP00000379326:p.Asn219Lys		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	hg19	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	A	7.436	0.639686	0.14386	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.87256	-2.23;-2.23;-2.23	5.07	3.9	0.45041	.	0.177263	0.47852	D	0.000209	T	0.81283	0.4790	L	0.48174	1.505	0.34755	D	0.732193	B;B	0.32467	0.055;0.372	B;B	0.36030	0.037;0.216	T	0.78191	-0.2300	10	0.22109	T	0.4	.	7.1583	0.25649	0.7866:0.0:0.0757:0.1378	.	219;219	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	K	219;219;31	ENSP00000379326:N219K;ENSP00000280467:N219K;ENSP00000435053:N31K	ENSP00000280467:N219K	N	-	3	2	SLC5A12	26681939	1.000000	0.71417	0.997000	0.53966	0.669000	0.39330	1.028000	0.30128	0.834000	0.34852	0.397000	0.26171	AAT		0.368	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		C	26725363	A	C	26725363	3	2	653	1	0	0	0	0	1	0	0	0	14670	214	8	5	1243	5	SLC5A12	11	26725363	Missense_Mutation	SNP	A	TCGA-G7-7502-01A-11D-2201-08		26725363	108281153	32	35512											
AHNAK	79026	hgsc.bcm.edu	37	11	62293750	62293750	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr11:62293750delG	ENST00000378024.4	-	5	8413	c.8139delC	c.(8137-8139)gacfs	p.D2713fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2713					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGTTTAAGTCAATATCAG	0.463																																																0													195	192	193					11																	62293750		2202	4299	6501	SO:0001589	frameshift_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8139delC	chr11.hg19:g.62293750delG	ENSP00000367263:p.Asp2713fs		A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	hg19	CCDS31584.1																																																																																				0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		-	62293750	G	-	62293750	7	5	653	1	0	1	0	1	0	0	0	0	414	1020	36	0	9653	0	AHNAK	11	62293750	Frame_Shift_Del	DEL	G	TCGA-G7-7502-01A-11D-2201-08	35568387	62293750	72712766	33	35513											
LRFN4	78999	hgsc.bcm.edu	37	11	66625625	66625625	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr11:66625625C>T	ENST00000309602.4	+	1	653	c.410C>T	c.(409-411)cCg>cTg	p.P137L	PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.P137L|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	137						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CGCATCGCGCCGGGAGCCTTC	0.692																																																0													49	54	52					11																	66625625		2200	4294	6494	SO:0001583	missense	78999			BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.410C>T	chr11.hg19:g.66625625C>T	ENSP00000312535:p.Pro137Leu		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	hg19	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	C	6.081	0.383217	0.11524	.	.	ENSG00000173621	ENST00000393952;ENST00000309602;ENST00000525479	T;T	0.60424	0.19;0.19	4.18	3.26	0.37387	.	0.304296	0.23951	N	0.042954	T	0.51227	0.1662	M	0.69358	2.11	0.24168	N	0.99564	P;B	0.34662	0.462;0.1	B;B	0.29862	0.105;0.108	T	0.50980	-0.8763	10	0.56958	D	0.05	.	9.9013	0.41348	0.0:0.8973:0.0:0.1027	.	137;137	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	L	137	ENSP00000377524:P137L;ENSP00000312535:P137L	ENSP00000312535:P137L	P	+	2	0	LRFN4	66382201	0.000000	0.05858	0.111000	0.21465	0.012000	0.07955	0.687000	0.25407	1.107000	0.41642	0.313000	0.20887	CCG		0.692	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		T	66625625	C	T	66625625	3	4	653	1	0	0	0	0	1	0	0	0	8942	652	23	1	412	1	LRFN4	11	66625625	Missense_Mutation	SNP	C	TCGA-G7-7502-01A-11D-2201-08	4331875	66625625	68380891	34	35514											
LRP5	4041	hgsc.bcm.edu	37	11	68205929	68205929	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr11:68205929C>T	ENST00000294304.7	+	20	4233	c.4127C>T	c.(4126-4128)cCc>cTc	p.P1376L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1376					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCAAGCCGCCCTCAGACGAC	0.592																																																0													95	98	97					11																	68205929		2200	4294	6494	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4127C>T	chr11.hg19:g.68205929C>T	ENSP00000294304:p.Pro1376Leu		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	hg19	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065810	0.36470	.	.	ENSG00000162337	ENST00000294304	D	0.94000	-3.33	4.53	4.53	0.55603	.	0.139825	0.31495	U	0.007555	D	0.90889	0.7137	L	0.45137	1.4	0.43787	D	0.996329	B;B	0.24092	0.097;0.097	B;B	0.26094	0.066;0.066	D	0.88780	0.3270	10	0.49607	T	0.09	.	17.5404	0.87845	0.0:1.0:0.0:0.0	.	1376;1376	Q9UES7;O75197	.;LRP5_HUMAN	L	1376	ENSP00000294304:P1376L	ENSP00000294304:P1376L	P	+	2	0	LRP5	67962505	0.649000	0.27322	0.025000	0.17156	0.056000	0.15407	5.269000	0.65542	2.379000	0.81126	0.585000	0.79938	CCC		0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		T	68205929	C	T	68205929	3	4	653	1	0	0	0	0	1	0	0	0	8962	623	22	2	4205	2	LRP5	11	68205929	Missense_Mutation	SNP	C	TCGA-G7-7502-01A-11D-2201-08	1580304	68205929	66800587	35	35515											
OR8D1	283159	hgsc.bcm.edu	37	11	124180474	124180474	+	Silent	SNP	G	G	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr11:124180474G>T	ENST00000357821.2	-	1	259	c.189C>A	c.(187-189)ctC>ctA	p.L63L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACAAGCTGCTGAGGAAATAGT	0.463																																																0													87	81	83					11																	124180474		2201	4299	6500	SO:0001819	synonymous_variant	283159			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.189C>A	chr11.hg19:g.124180474G>T			B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	ENST00000357821.2	hg19	CCDS31706.1																																																																																				0.463	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		T	124180474	G	T	124180474	2	4	653	1	0	0	0	0	0	0	0	1	11233	1277	45	4		4	OR8D1	11	124180474	Silent	SNP	G	TCGA-G7-7502-01A-11D-2201-08	55974545	124180474	10826042	36	35516											
MLL2	8085	hgsc.bcm.edu	37	12	49433380	49433380	+	Silent	SNP	C	C	G			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr12:49433380C>G	ENST00000301067.7	-	32	8066	c.8067G>C	c.(8065-8067)ctG>ctC	p.L2689L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2689					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCCGAATCAGCAGCTCTCGTA	0.577																																																0													19	21	20					12																	49433380		1995	4182	6177	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8067G>C	chr12.hg19:g.49433380C>G			O14687	Silent	SNP	ENST00000301067.7	hg19	CCDS44873.1																																																																																				0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			G	49433380	C	G	49433380	2	3	653	1	0	0	0	0	0	0	0	1	9623	697	25	4		4	MLL2	12	49433380	Silent	SNP	C	TCGA-G7-7502-01A-11D-2201-08		49433380	84418515	37	35517											
RPH3A	22895	hgsc.bcm.edu	37	12	113306301	113306301	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr12:113306301C>A	ENST00000389385.4	+	8	1008	c.511C>A	c.(511-513)Cct>Act	p.P171T	RPH3A_ENST00000543106.2_Missense_Mutation_p.P171T|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.P171T|RPH3A_ENST00000551052.1_Missense_Mutation_p.P167T|RPH3A_ENST00000548866.1_Missense_Mutation_p.P122T|RPH3A_ENST00000447659.2_Missense_Mutation_p.P122T|RPH3A_ENST00000420983.2_Missense_Mutation_p.P171T	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	171	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACAGCCTATGCCTATAAAGAA	0.602																																																0													60	58	59					12																	113306301		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.511C>A	chr12.hg19:g.113306301C>A	ENSP00000374036:p.Pro171Thr		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	hg19	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653855	0.88056	.	.	ENSG00000089169	ENST00000543106;ENST00000551593;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.64438	-0.0;-0.0;-0.1;-0.0;-0.0;-0.1;-0.0	4.77	4.77	0.60923	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.64402	D	0.000009	T	0.73521	0.3597	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	T	0.70676	-0.4806	10	0.28530	T	0.3	.	16.5919	0.84767	0.0:1.0:0.0:0.0	.	122;171;171;167	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	T	171;171;171;122;167;171;122;171	ENSP00000440384:P171T;ENSP00000374036:P171T;ENSP00000413254:P122T;ENSP00000448297:P167T;ENSP00000405357:P171T;ENSP00000450347:P122T;ENSP00000408889:P171T	ENSP00000374036:P171T	P	+	1	0	RPH3A	111790684	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.916000	0.75776	2.213000	0.71641	0.655000	0.94253	CCT		0.602	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		A	113306301	C	A	113306301	3	1	653	1	0	0	0	0	1	0	0	0	13557	739	26	4	533	4	RPH3A	12	113306301	Missense_Mutation	SNP	C	TCGA-G7-7502-01A-11D-2201-08	63872921	113306301	20545594	38	35518											
CCDC62	84660	hgsc.bcm.edu	37	12	123286278	123286278	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr12:123286278A>T	ENST00000253079.6	+	9	1929	c.1585A>T	c.(1585-1587)Atg>Ttg	p.M529L	CCDC62_ENST00000392440.2_Missense_Mutation_p.M290L|CCDC62_ENST00000392441.4_Missense_Mutation_p.M529L|CCDC62_ENST00000537566.1_Missense_Mutation_p.M290L	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	529					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CCCAGGCCACATGTCTGACGT	0.502																																																0													138	145	143					12																	123286278		2203	4300	6503	SO:0001583	missense	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1585A>T	chr12.hg19:g.123286278A>T	ENSP00000253079:p.Met529Leu		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	hg19	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358511	0.41801	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.73	-0.599	0.11645	.	0.206543	0.35805	N	0.002975	T	0.49609	0.1567	L	0.56769	1.78	0.18873	N	0.999988	B;B;B	0.21225	0.053;0.004;0.001	B;B;B	0.15484	0.013;0.006;0.001	T	0.44298	-0.9337	10	0.56958	D	0.05	-8.7087	4.9707	0.14113	0.4874:0.1609:0.3517:0.0	.	529;290;529	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	L	529;529;290;290	ENSP00000253079:M529L;ENSP00000376236:M529L;ENSP00000445045:M290L;ENSP00000376235:M290L	ENSP00000253079:M529L	M	+	1	0	CCDC62	121852231	0.575000	0.26692	0.748000	0.31131	0.676000	0.39594	0.351000	0.20096	0.101000	0.17610	0.482000	0.46254	ATG		0.502	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		T	123286278	A	T	123286278	3	4	653	1	0	0	0	0	1	0	0	0	2835	217	8	5	1619	5	CCDC62	12	123286278	Missense_Mutation	SNP	A	TCGA-G7-7502-01A-11D-2201-08	9979977	123286278	10565617	39	35519											
SLC15A4	121260	hgsc.bcm.edu	37	12	129283926	129283926	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr12:129283926A>G	ENST00000266771.5	-	7	1490	c.1451T>C	c.(1450-1452)aTg>aCg	p.M484T	SLC15A4_ENST00000544112.1_Missense_Mutation_p.M147T|SLC15A4_ENST00000545031.1_Start_Codon_SNP_p.M1T	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	484					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GGCACTCTGCATGGACTTGGG	0.512																																																0													84	81	82					12																	129283926		2203	4300	6503	SO:0001583	missense	121260			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"Solute carriers"	23090	protein-coding gene	gene with protein product		615806	"solute carrier family 15, member 4"			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1451T>C	chr12.hg19:g.129283926A>G	ENSP00000266771:p.Met484Thr		A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	hg19	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361060	0.82353	.	.	ENSG00000139370	ENST00000266771;ENST00000545031;ENST00000544112	T;T	0.05382	3.45;3.45	5.15	5.15	0.70609	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.85542	2.76	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.08249	-1.0731	10	0.87932	D	0	.	14.985	0.71342	1.0:0.0:0.0:0.0	.	484	Q8N697	S15A4_HUMAN	T	484;1;147	ENSP00000266771:M484T;ENSP00000439946:M147T	ENSP00000266771:M484T	M	-	2	0	SLC15A4	127849879	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.574000	0.90763	1.929000	0.55896	0.533000	0.62120	ATG		0.512	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		G	129283926	A	G	129283926	3	3	653	1	0	0	0	0	1	0	0	0	14407	217	8	3	290	3	SLC15A4	12	129283926	Missense_Mutation	SNP	A	TCGA-G7-7502-01A-11D-2201-08	5997648	129283926	4567969	40	35520											
SLITRK1	114798	hgsc.bcm.edu	37	13	84453895	84453895	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr13:84453895G>A	ENST00000377084.2	-	1	2633	c.1748C>T	c.(1747-1749)gCt>gTt	p.A583V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	583					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)		CGAGATCCTAGCGTACAGCTG	0.542																																																0													94	80	85					13																	84453895		2203	4300	6503	SO:0001583	missense	114798			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.1748C>T	chr13.hg19:g.84453895G>A	ENSP00000366288:p.Ala583Val		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	hg19	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	7.865	0.726968	0.15439	.	.	ENSG00000178235	ENST00000377084	T	0.58797	0.31	5.22	4.36	0.52297	.	0.190710	0.45126	D	0.000397	T	0.58409	0.2120	M	0.76574	2.34	0.45261	D	0.998262	B	0.22541	0.071	B	0.25987	0.065	T	0.56595	-0.7953	10	0.30854	T	0.27	-10.4812	13.8324	0.63389	0.0:0.1548:0.8452:0.0	.	583	Q96PX8	SLIK1_HUMAN	V	583	ENSP00000366288:A583V	ENSP00000366288:A583V	A	-	2	0	SLITRK1	83351896	1.000000	0.71417	0.958000	0.39756	0.986000	0.74619	3.881000	0.56152	1.320000	0.45209	-0.175000	0.13238	GCT		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		A	84453895	G	A	84453895	3	1	653	1	0	0	0	0	1	0	0	0	14748	971	34	2	346	2	SLITRK1	13	84453895	Missense_Mutation	SNP	G	TCGA-G7-7502-01A-11D-2201-08		84453895	30715983	41	35521											
UBAC2	337867	hgsc.bcm.edu	37	13	99890774	99890774	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr13:99890774T>C	ENST00000403766.3	+	2	260	c.125T>C	c.(124-126)gTg>gCg	p.V42A	UBAC2_ENST00000376440.2_Missense_Mutation_p.C84R	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	42					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAGCTCTTTGTGTATGACCTT	0.547																																																0													222	221	222					13																	99890774		2203	4300	6503	SO:0001583	missense	337867			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"phosphoglycerate dehydrogenase like 1"	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.125T>C	chr13.hg19:g.99890774T>C	ENSP00000383911:p.Val42Ala		B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	ENST00000403766.3	hg19	CCDS45064.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.11|13.11	2.139733|2.139733	0.37728|0.37728	.|.	.|.	ENSG00000134882|ENSG00000134882	ENST00000376440|ENST00000403766;ENST00000355700;ENST00000457666	.|T;T;T	.|0.45276	.|0.9;0.9;0.9	5.72|5.72	4.52|4.52	0.55395|0.55395	.|.	.|0.610304	.|0.17766	.|N	.|0.162736	T|T	0.25865|0.25865	0.0630|0.0630	.|.	.|.	.|.	0.37528|0.37528	D|D	0.917816|0.917816	B|B	0.18968|0.13594	0.032|0.008	B|B	0.13407|0.06405	0.009|0.002	T|T	0.12268|0.12268	-1.0554|-1.0554	6|8	.|.	.|.	.|.	-4.5461|-4.5461	5.6483|5.6483	0.17602|0.17602	0.1608:0.0847:0.0:0.7545|0.1608:0.0847:0.0:0.7545	.|.	84|42	Q8NBM4-2|Q8NBM4	.|UBAC2_HUMAN	R|A	84|42;42;48	.|ENSP00000383911:V42A;ENSP00000347928:V42A;ENSP00000402249:V48A	.|.	C|V	+|+	1|2	0|0	UBAC2|UBAC2	98688775|98688775	0.007000|0.007000	0.16637|0.16637	0.998000|0.998000	0.56505|0.56505	0.983000|0.983000	0.72400|0.72400	1.311000|1.311000	0.33562|0.33562	0.960000|0.960000	0.38005|0.38005	0.482000|0.482000	0.46254|0.46254	TGT|GTG		0.547	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1	NM_177967		C	99890774	T	C	99890774	3	2	653	1	0	0	0	0	1	0	0	0	16840	1696	59	3	291	3	UBAC2	13	99890774	Missense_Mutation	SNP	T	TCGA-G7-7502-01A-11D-2201-08	15436879	99890774	15279104	42	35522											
ERCC5	2073	hgsc.bcm.edu	37	13	103524734	103524734	+	Silent	SNP	C	C	A	rs150671111		TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr13:103524734C>A	ENST00000355739.4	+	13	4288	c.2865C>A	c.(2863-2865)ctC>ctA	p.L955L	ERCC5_ENST00000375954.1_Silent_p.L188L|BIVM-ERCC5_ENST00000602836.1_Silent_p.R1381R	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	955					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AACCTGATCTCGACAAAATTA	0.438			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	0													58	55	56					13																	103524734		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2865C>A	chr13.hg19:g.103524734C>A			A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	ENST00000355739.4	hg19	CCDS32004.1																																																																																				0.438	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			A	103524734	C	A	103524734	2	1	653	1	0	0	0	0	0	0	0	1	5218	871	31	4		4	ERCC5	13	103524734	Silent	SNP	C	TCGA-G7-7502-01A-11D-2201-08	3633960	103524734	11645144	43	35523											
CASC5	57082	hgsc.bcm.edu	37	15	40914067	40914068	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr15:40914067_40914068delTT	ENST00000346991.5	+	11	2073_2074	c.1683_1684delTT	c.(1681-1686)aattgtfs	p.NC561fs	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Frame_Shift_Del_p.NC535fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	561	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGAATGTAAATTGTAACTCAGT	0.371																																																0																																										SO:0001589	frameshift_variant	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1683_1684delTT	chr15.hg19:g.40914067_40914068delTT	ENSP00000335463:p.Asn561fs		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Frame_Shift_Del	DEL	ENST00000346991.5	hg19	CCDS42023.1																																																																																				0.371	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		-	40914068	TT	-	40914067	7	5	653	1	0	1	0	1	0	0	0	0	2665	1490	52	0	1721	0	CASC5	15	40914067	Frame_Shift_Del	DEL	TT	TCGA-G7-7502-01A-11D-2201-08		40914067	61617325	44	35524											
UBR1	197131	hgsc.bcm.edu	37	15	43276106	43276106	+	Missense_Mutation	SNP	C	C	G	rs536630830		TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr15:43276106C>G	ENST00000290650.4	-	37	4217	c.4139G>C	c.(4138-4140)cGt>cCt	p.R1380P	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1380					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1380H(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGATAGAAGACGAACCAGATG	0.348																																																1	Substitution - Missense(1)	prostate(1)											71	63	66					15																	43276106		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4139G>C	chr15.hg19:g.43276106C>G	ENSP00000290650:p.Arg1380Pro		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	hg19	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750814	0.89753	.	.	ENSG00000159459	ENST00000290650	T	0.49139	0.79	5.84	5.84	0.93424	.	0.289878	0.40554	N	0.001071	T	0.62684	0.2448	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	P	0.56751	0.805	T	0.58222	-0.7674	10	0.33940	T	0.23	-22.8504	18.3196	0.90232	0.0:1.0:0.0:0.0	.	1380	Q8IWV7	UBR1_HUMAN	P	1380	ENSP00000290650:R1380P	ENSP00000290650:R1380P	R	-	2	0	UBR1	41063398	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.752000	0.55172	2.764000	0.94973	0.655000	0.94253	CGT		0.348	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		G	43276106	C	G	43276106	3	3	653	1	0	0	0	0	1	0	0	0	16906	536	19	4	1154	4	UBR1	15	43276106	Missense_Mutation	SNP	C	TCGA-G7-7502-01A-11D-2201-08	2362039	43276106	59255286	45	35525											
SCAMP2	10066	hgsc.bcm.edu	37	15	75142970	75142970	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr15:75142970A>T	ENST00000268099.9	-	6	626	c.517T>A	c.(517-519)Tgg>Agg	p.W173R		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	173					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CCCGAGAACCAGGCCAGGCAG	0.562																																																0													123	112	115					15																	75142970		2197	4295	6492	SO:0001583	missense	10066			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.517T>A	chr15.hg19:g.75142970A>T	ENSP00000268099:p.Trp173Arg		B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	hg19	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	A	7.869	0.727707	0.15439	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.16597	2.33	4.48	4.48	0.54585	.	0.307839	0.34802	N	0.003680	T	0.22513	0.0543	M	0.71036	2.16	0.30893	N	0.730139	B;B	0.21520	0.049;0.057	B;B	0.29267	0.035;0.1	T	0.10543	-1.0625	10	0.25751	T	0.34	.	13.2599	0.60098	1.0:0.0:0.0:0.0	.	173;142	O15127;B3KU14	SCAM2_HUMAN;.	R	173;142	ENSP00000268099:W173R	ENSP00000268099:W173R	W	-	1	0	SCAMP2	72930023	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	4.332000	0.59279	1.795000	0.52594	0.402000	0.26972	TGG		0.562	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		T	75142970	A	T	75142970	3	4	653	1	0	0	0	0	1	0	0	0	13877	188	7	5	488	5	SCAMP2	15	75142970	Missense_Mutation	SNP	A	TCGA-G7-7502-01A-11D-2201-08	31866864	75142970	27388422	46	35526											
ZSCAN2	54993	hgsc.bcm.edu	37	15	85159554	85159554	+	Intron	SNP	G	G	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr15:85159554G>A	ENST00000448803.2	+	3	698				ZSCAN2_ENST00000327179.6_Intron|ZSCAN2_ENST00000546148.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000538076.1_Intron|RP11-182J1.5_ENST00000542197.1_RNA|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.V141I	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		agcttcctgcgtacatggctg	0.463																																																0													170	139	149					15																	85159554		2203	4299	6502	SO:0001627	intron_variant	54993			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.407-4279G>A	chr15.hg19:g.85159554G>A			A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	hg19	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	2.654	-0.281322	0.05642	.	.	ENSG00000176371	ENST00000379358	T	0.05855	3.38	1.85	-3.69	0.04450	.	.	.	.	.	T	0.03434	0.0099	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41787	-0.9489	8	0.38643	T	0.18	.	1.9006	0.03267	0.2148:0.1858:0.4349:0.1645	.	141	Q7Z7L9-4	.	I	141	ENSP00000368663:V141I	ENSP00000368663:V141I	V	+	1	0	ZSCAN2	82960558	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-2.727000	0.00807	-1.295000	0.02357	-0.414000	0.06135	GTA		0.463	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		A	85159554	G	A	85159554	1	1	653	0	1	0	0	0	0	0	0	0	18236	1145	40	1		1	ZSCAN2	15	85159554	Intron	SNP	G	TCGA-G7-7502-01A-11D-2201-08	10016584	85159554	17371838	47	35527											
KIAA0556	23247	hgsc.bcm.edu	37	16	27761006	27761006	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr16:27761006T>A	ENST00000261588.4	+	16	2744	c.2725T>A	c.(2725-2727)Tcc>Acc	p.S909T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	909						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTTCGACCGCTCCCACCGGGG	0.637																																																0													63	60	61					16																	27761006		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2725T>A	chr16.hg19:g.27761006T>A	ENSP00000261588:p.Ser909Thr		A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	hg19	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.620080	0.66787	.	.	ENSG00000047578	ENST00000261588	T	0.10382	2.88	4.7	3.58	0.41010	.	0.196895	0.45606	D	0.000352	T	0.10465	0.0256	L	0.53249	1.67	0.25290	N	0.989366	P	0.47545	0.897	P	0.45639	0.488	T	0.06373	-1.0830	10	0.06365	T	0.9	-22.2078	6.7315	0.23385	0.0:0.0832:0.161:0.7558	.	909	O60303	K0556_HUMAN	T	909	ENSP00000261588:S909T	ENSP00000261588:S909T	S	+	1	0	KIAA0556	27668507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.876000	0.48498	0.738000	0.32606	0.533000	0.62120	TCC		0.637	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		A	27761006	T	A	27761006	3	1	653	1	0	0	0	0	1	0	0	0	8185	1551	54	5	2787	5	KIAA0556	16	27761006	Missense_Mutation	SNP	T	TCGA-G7-7502-01A-11D-2201-08		27761006	62593747	48	35528											
SEZ6L2	26470	hgsc.bcm.edu	37	16	29884867	29884867	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr16:29884867T>A	ENST00000308713.5	-	13	2815	c.2288A>T	c.(2287-2289)aAa>aTa	p.K763I	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.K719I|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.K693I|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.K649I	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	763	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAGGCGCATTTGGGGACCCT	0.667																																																0													60	55	57					16																	29884867		2197	4300	6497	SO:0001583	missense	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2288A>T	chr16.hg19:g.29884867T>A	ENSP00000312550:p.Lys763Ile		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	hg19	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145084	0.77888	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.67	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.49916	D	0.000135	T	0.66742	0.2820	L	0.28556	0.865	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.996;0.998;0.998;0.999	T	0.63088	-0.6715	10	0.23891	T	0.37	.	13.1007	0.59218	0.0:0.0:0.0:1.0	.	719;763;649;693;763;693	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	I	693;763;649;719	ENSP00000310206:K693I;ENSP00000312550:K763I;ENSP00000319215:K649I;ENSP00000439412:K719I	ENSP00000312550:K763I	K	-	2	0	SEZ6L2	29792368	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.939000	0.70179	1.737000	0.51674	0.533000	0.62120	AAA		0.667	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		A	29884867	T	A	29884867	3	1	653	1	0	0	0	0	1	0	0	0	14150	1841	64	5	507	5	SEZ6L2	16	29884867	Missense_Mutation	SNP	T	TCGA-G7-7502-01A-11D-2201-08	2123861	29884867	60469886	49	35529											
HEATR3	55027	hgsc.bcm.edu	37	16	50104088	50104088	+	Splice_Site	SNP	G	G	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr16:50104088G>A	ENST00000299192.7	+	4	590		c.e4-1		HEATR3_ENST00000285767.4_Splice_Site	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3											cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGGTTACAGTGTAGTGCTG	0.383																																																0													86	83	84					16																	50104088		2198	4300	6498	SO:0001630	splice_region_variant	55027			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.400-1G>A	chr16.hg19:g.50104088G>A			A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Splice_Site	SNP	ENST00000299192.7	hg19	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012741	0.75161	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.545	0.95291	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HEATR3	48661589	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.402000	0.73260	2.861000	0.98227	0.655000	0.94253	.		0.383	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	Intron	A	50104088	G	A	50104088	5	1	653	1	0	0	0	0	0	0	1	0	7031	1043	36	2	413	2	HEATR3	16	50104088	Splice_Site	SNP	G	TCGA-G7-7502-01A-11D-2201-08	20219221	50104088	40250665	50	35530											
AMFR	267	hgsc.bcm.edu	37	16	56401438	56401438	+	Splice_Site	SNP	C	C	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr16:56401438C>A	ENST00000290649.5	-	12	1727	c.1517G>T	c.(1516-1518)cGg>cTg	p.R506L		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	506					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GCTATCTGACCGCTGGAAGAG	0.498																																					Pancreas(2;144 323 39528)											0													248	233	238					16																	56401438		2198	4300	6498	SO:0001630	splice_region_variant	267			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1516-1G>T	chr16.hg19:g.56401438C>A			P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	hg19	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611801	0.46631	.	.	ENSG00000159461	ENST00000290649	T	0.14391	2.51	5.8	5.8	0.92144	.	0.234971	0.44483	D	0.000455	T	0.15998	0.0385	M	0.63428	1.95	0.80722	D	1	B;P	0.37985	0.415;0.613	B;B	0.28709	0.089;0.093	T	0.02208	-1.1195	10	0.34782	T	0.22	-24.0104	18.2436	0.89977	0.0:1.0:0.0:0.0	.	506;155	Q9UKV5;Q1RN03	AMFR2_HUMAN;.	L	506	ENSP00000290649:R506L	ENSP00000290649:R506L	R	-	2	0	AMFR	54958939	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	3.487000	0.53222	2.735000	0.93741	0.655000	0.94253	CGG		0.498	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2		Missense_Mutation	A	56401438	C	A	56401438	5	1	653	1	0	0	0	0	0	0	1	0	571	666	23	4	426	4	AMFR	16	56401438	Splice_Site	SNP	C	TCGA-G7-7502-01A-11D-2201-08	6297350	56401438	33953315	51	35531											
GRB7	2886	hgsc.bcm.edu	37	17	37898588	37898588	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr17:37898588A>G	ENST00000309156.4	+	2	291	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	GRB7_ENST00000445327.2_Missense_Mutation_p.S35G|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394209.2_Missense_Mutation_p.S12G|GRB7_ENST00000394204.1_Missense_Mutation_p.S12G|GRB7_ENST00000394211.3_Missense_Mutation_p.S12G|GRB7_ENST00000309185.3_Missense_Mutation_p.S12G	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	12					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCATCTTAGCAGCTCTCCGGA	0.617																																																0													154	151	152					17																	37898588		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.34A>G	chr17.hg19:g.37898588A>G	ENSP00000310771:p.Ser12Gly		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	hg19	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	A	7.773	0.707831	0.15239	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	4.61	4.61	0.57282	.	0.366448	0.26349	N	0.024892	T	0.38585	0.1046	L	0.47716	1.5	0.27860	N	0.940439	B;B	0.28971	0.229;0.043	B;B	0.29176	0.099;0.037	T	0.24404	-1.0161	10	0.21540	T	0.41	-25.7351	10.4148	0.44316	1.0:0.0:0.0:0.0	.	12;12	Q14451-2;Q14451	.;GRB7_HUMAN	G	12;12;12;12;35;12	ENSP00000311752:S12G;ENSP00000310771:S12G;ENSP00000377761:S12G;ENSP00000377759:S12G;ENSP00000403459:S35G;ENSP00000377754:S12G	ENSP00000310771:S12G	S	+	1	0	GRB7	35152114	1.000000	0.71417	0.981000	0.43875	0.110000	0.19582	4.739000	0.62080	1.718000	0.51419	0.459000	0.35465	AGC		0.617	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		G	37898588	A	G	37898588	3	3	653	1	0	0	0	0	1	0	0	0	6761	188	7	3	36	3	GRB7	17	37898588	Missense_Mutation	SNP	A	TCGA-G7-7502-01A-11D-2201-08		37898588	43296622	52	35532											
SCRN2	90507	hgsc.bcm.edu	37	17	45915995	45915995	+	Silent	SNP	C	C	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr17:45915995C>A	ENST00000290216.9	-	6	965	c.840G>T	c.(838-840)tcG>tcT	p.S280S	SCRN2_ENST00000584123.1_Silent_p.S288S|SCRN2_ENST00000407215.3_Silent_p.S280S	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	280						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GAAAGCCTCCCGAGTCCATAC	0.617																																																0													105	87	93					17																	45915995		2203	4300	6503	SO:0001819	synonymous_variant	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.840G>T	chr17.hg19:g.45915995C>A			A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	ENST00000290216.9	hg19	CCDS11519.1																																																																																				0.617	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		A	45915995	C	A	45915995	2	1	653	1	0	0	0	0	0	0	0	1	13945	639	23	4		4	SCRN2	17	45915995	Silent	SNP	C	TCGA-G7-7502-01A-11D-2201-08	8017407	45915995	35279215	53	35533											
CDK5RAP3	80279	hgsc.bcm.edu	37	17	46058013	46058013	+	Silent	SNP	C	C	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr17:46058013C>T	ENST00000338399.4	+	12	1238	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L	CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000536708.2_Silent_p.L403L	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	378					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GGCAGATGTCCTGTCTGTGAG	0.527																																																0													182	184	183					17																	46058013		2092	4207	6299	SO:0001819	synonymous_variant	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.1132C>T	chr17.hg19:g.46058013C>T			B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	ENST00000338399.4	hg19	CCDS42356.1																																																																																				0.527	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		T	46058013	C	T	46058013	2	4	653	1	0	0	0	0	0	0	0	1	3149	680	24	2		2	CDK5RAP3	17	46058013	Silent	SNP	C	TCGA-G7-7502-01A-11D-2201-08	142018	46058013	35137197	54	35534											
RANBP3	8498	hgsc.bcm.edu	37	19	5941706	5941706	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr19:5941706T>C	ENST00000340578.6	-	5	389	c.332A>G	c.(331-333)gAa>gGa	p.E111G	RANBP3_ENST00000591092.1_Missense_Mutation_p.E43G|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000034275.8_Missense_Mutation_p.E43G|RANBP3_ENST00000541471.1_Intron|RANBP3_ENST00000439268.2_Missense_Mutation_p.E111G	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	111					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ATTTCCATCTTCTCTGTCAGA	0.423																																																0													161	152	155					19																	5941706		1912	4133	6045	SO:0001583	missense	8498			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.332A>G	chr19.hg19:g.5941706T>C	ENSP00000341483:p.Glu111Gly		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	hg19	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.625162	0.66901	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807	T;T;T	0.38887	1.11;1.15;1.83	5.26	5.26	0.73747	.	0.096682	0.64402	D	0.000001	T	0.46171	0.1379	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.58268	0.97;0.982;0.982;0.97	P;P;P;P	0.60345	0.683;0.832;0.873;0.749	T	0.47114	-0.9142	10	0.54805	T	0.06	-17.7103	13.15	0.59484	0.0:0.0:0.0:1.0	.	43;43;111;111	B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;RANB3_HUMAN	G	111;111;43;42	ENSP00000341483:E111G;ENSP00000404837:E111G;ENSP00000034275:E43G	ENSP00000034275:E43G	E	-	2	0	RANBP3	5892706	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.699000	0.74613	1.996000	0.58369	0.533000	0.62120	GAA		0.423	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		C	5941706	T	C	5941706	3	2	653	1	0	0	0	0	1	0	0	0	13035	1783	62	3	1423	3	RANBP3	19	5941706	Missense_Mutation	SNP	T	TCGA-G7-7502-01A-11D-2201-08		5941706	53187277	55	35535											
DNMT1	1786	hgsc.bcm.edu	37	19	10250732	10250732	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr19:10250732delA	ENST00000340748.4	-	32	3983	c.3748delT	c.(3748-3750)tccfs	p.S1250fs	DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.S1266fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.S1250fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1250	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTGAGGAAGGAAACCACCAGA	0.612																																																0													39	40	40					19																	10250732		2203	4300	6503	SO:0001589	frameshift_variant	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3748delT	chr19.hg19:g.10250732delA	ENSP00000345739:p.Ser1250fs		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Del	DEL	ENST00000340748.4	hg19	CCDS12228.1																																																																																				0.612	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		-	10250732	A	-	10250732	7	5	653	1	0	1	0	1	0	0	0	0	4677	246	9	0	1138	0	DNMT1	19	10250732	Frame_Shift_Del	DEL	A	TCGA-G7-7502-01A-11D-2201-08	4309026	10250732	48878251	56	35536											
ZNF101	94039	hgsc.bcm.edu	37	19	19789581	19789581	+	Silent	SNP	G	G	C			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr19:19789581G>C	ENST00000592502.1	+	3	287	c.177G>C	c.(175-177)ctG>ctC	p.L59L	ZNF101_ENST00000415784.2_5'UTR|ZNF101_ENST00000444249.2_Missense_Mutation_p.W58S			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ACCAAAACCTGGGGATTAAGC	0.333																																																0													45	45	45					19																	19789581		2203	4300	6503	SO:0001819	synonymous_variant	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.177G>C	chr19.hg19:g.19789581G>C			C9JU83|Q0VDG9	Silent	SNP	ENST00000592502.1	hg19	CCDS32971.1																																																																																				0.333	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		C	19789581	G	C	19789581	2	2	653	1	0	0	0	0	0	0	0	1	17719	1335	47	4		4	ZNF101	19	19789581	Silent	SNP	G	TCGA-G7-7502-01A-11D-2201-08	9538849	19789581	39339402	57	35537											
ZFP14	57677	hgsc.bcm.edu	37	19	36831515	36831515	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr19:36831515A>C	ENST00000270001.7	-	5	1328	c.1213T>G	c.(1213-1215)Ttt>Gtt	p.F405V		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAACTACTAAAGGTCTTCCAA	0.408																																																0													115	106	109					19																	36831515		2203	4300	6503	SO:0001583	missense	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1213T>G	chr19.hg19:g.36831515A>C	ENSP00000270001:p.Phe405Val		A7MD23	Missense_Mutation	SNP	ENST00000270001.7	hg19	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	a	18.65	3.668655	0.67814	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.46063	0.88	3.99	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000284	T	0.67822	0.2934	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.74919	-0.3500	10	0.87932	D	0	.	12.2842	0.54783	1.0:0.0:0.0:0.0	.	405;405	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	V	405	ENSP00000270001:F405V	ENSP00000270001:F405V	F	-	1	0	ZFP14	41523355	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	5.755000	0.68750	1.794000	0.52575	0.523000	0.50628	TTT		0.408	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		C	36831515	A	C	36831515	3	2	653	1	0	0	0	0	1	0	0	0	17644	72	3	5	392	5	ZFP14	19	36831515	Missense_Mutation	SNP	A	TCGA-G7-7502-01A-11D-2201-08	17041934	36831515	22297468	58	35538											
ZNF776	284309	hgsc.bcm.edu	37	19	58265245	58265245	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr19:58265245delT	ENST00000317178.5	+	3	1010	c.747delT	c.(745-747)aatfs	p.N249fs		NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GCAAAAGTAATAGTTTTAATA	0.413																																																0													63	64	64					19																	58265245		2203	4300	6503	SO:0001589	frameshift_variant	284309			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.747delT	chr19.hg19:g.58265245delT	ENSP00000321812:p.Asn249fs		Q6ZS36|Q8N968	Frame_Shift_Del	DEL	ENST00000317178.5	hg19	CCDS12962.2																																																																																				0.413	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		-	58265245	T	-	58265245	7	5	653	1	0	1	0	1	0	0	0	0	18154	1403	49	0	757	0	ZNF776	19	58265245	Frame_Shift_Del	DEL	T	TCGA-G7-7502-01A-11D-2201-08	21433730	58265245	863738	59	35539											
PLUNC	51297	hgsc.bcm.edu	37	20	31825663	31825663	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr20:31825663G>A	ENST00000354297.4	+	2	217	c.146G>A	c.(145-147)gGa>gAa	p.G49E	BPIFA1_ENST00000375413.4_Missense_Mutation_p.G49E|BPIFA1_ENST00000375422.2_Missense_Mutation_p.G49E	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	49					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										GGTCTTGCAGGAAGCTTGACA	0.557																																																0													84	78	80					20																	31825663		2203	4300	6503	SO:0001583	missense	51297			AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.146G>A	chr20.hg19:g.31825663G>A	ENSP00000346251:p.Gly49Glu		A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	hg19	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	G	9.833	1.189055	0.21954	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.11385	2.78;2.78;2.78	5.11	-0.843	0.10744	.	0.563694	0.17374	N	0.176573	T	0.06826	0.0174	L	0.39245	1.2	0.09310	N	1	B	0.24882	0.113	B	0.23419	0.046	T	0.43702	-0.9375	10	0.02654	T	1	0.4054	9.72	0.40297	0.0869:0.5908:0.3223:0.0	.	49	Q9NP55	BPIA1_HUMAN	E	49;49;49;35	ENSP00000364571:G49E;ENSP00000346251:G49E;ENSP00000364562:G49E	ENSP00000346251:G49E	G	+	2	0	BPIFA1	31289324	0.316000	0.24580	0.019000	0.16419	0.005000	0.04900	0.387000	0.20718	0.087000	0.17167	0.655000	0.94253	GGA		0.557	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		A	31825663	G	A	31825663	3	1	653	1	0	0	0	0	1	0	0	0	12117	1174	41	2	148	2	PLUNC	20	31825663	Missense_Mutation	SNP	G	TCGA-G7-7502-01A-11D-2201-08		31825663	31199857	60	35540											
C21orf7	56911	hgsc.bcm.edu	37	21	30547133	30547133	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr21:30547133delT	ENST00000399947.2	+	9	926	c.649delT	c.(649-651)ttgfs	p.L217fs	MAP3K7CL_ENST00000341618.4_Frame_Shift_Del_p.L217fs|MAP3K7CL_ENST00000339024.4_Frame_Shift_Del_p.L117fs|MAP3K7CL_ENST00000399928.1_Frame_Shift_Del_p.L117fs|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399934.1_Frame_Shift_Del_p.L117fs|MAP3K7CL_ENST00000399935.2_Frame_Shift_Del_p.L117fs|MAP3K7CL_ENST00000545939.1_Frame_Shift_Del_p.L111fs|MAP3K7CL_ENST00000399926.1_Frame_Shift_Del_p.L117fs|MAP3K7CL_ENST00000399925.1_Frame_Shift_Del_p.L117fs	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	217						cytosol (GO:0005829)|nucleus (GO:0005634)											GAATCGGACGTTGAGGTTGGC	0.488																																																0													115	106	109					21																	30547133		2203	4300	6503	SO:0001589	frameshift_variant	56911			AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"chromosome 21 open reading frame 7"	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.649delT	chr21.hg19:g.30547133delT	ENSP00000382828:p.Leu217fs		D3DSE0|Q8TCL9	Frame_Shift_Del	DEL	ENST00000399947.2	hg19	CCDS13584.1																																																																																				0.488	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		-	30547133	T	-	30547133	7	5	653	1	0	1	0	1	0	0	0	0	2134	1722	60	0	675	0	C21orf7	21	30547133	Frame_Shift_Del	DEL	T	TCGA-G7-7502-01A-11D-2201-08		30547133	17582762	61	35541											
COL6A1	1291	hgsc.bcm.edu	37	21	47423886	47423886	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr21:47423886G>A	ENST00000361866.3	+	35	3160	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	1016	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCTCCGCGGTGTCTTCCACCA	0.662																																																0													56	58	58					21																	47423886		2203	4300	6503	SO:0001583	missense	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.3046G>A	chr21.hg19:g.47423886G>A	ENSP00000355180:p.Val1016Ile		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	hg19	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958303	0.73902	.	.	ENSG00000142156	ENST00000361866	D	0.91464	-2.85	4.83	4.83	0.62350	von Willebrand factor, type A (1);	0.000000	0.64402	D	0.000001	D	0.90376	0.6988	L	0.57536	1.79	0.58432	D	0.99999	D	0.52996	0.957	P	0.49752	0.621	D	0.88044	0.2783	10	0.08381	T	0.77	-40.0397	17.9387	0.89020	0.0:0.0:1.0:0.0	.	1016	P12109	CO6A1_HUMAN	I	1016	ENSP00000355180:V1016I	ENSP00000355180:V1016I	V	+	1	0	COL6A1	46248314	1.000000	0.71417	0.957000	0.39632	0.304000	0.27724	5.907000	0.69908	2.232000	0.73038	0.596000	0.82720	GTC		0.662	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		A	47423886	G	A	47423886	3	1	653	1	0	0	0	0	1	0	0	0	3701	1377	48	2	3184	2	COL6A1	21	47423886	Missense_Mutation	SNP	G	TCGA-G7-7502-01A-11D-2201-08	16876753	47423886	706009	62	35542											
ARVCF	421	hgsc.bcm.edu	37	22	19966432	19966432	+	Missense_Mutation	SNP	G	G	A	rs542020914	byFrequency	TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr22:19966432G>A	ENST00000263207.3	-	7	1859	c.1568C>T	c.(1567-1569)tCg>tTg	p.S523L	ARVCF_ENST00000344269.3_Missense_Mutation_p.S460L|ARVCF_ENST00000401994.1_Missense_Mutation_p.S460L|ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000406259.1_Missense_Mutation_p.S523L|ARVCF_ENST00000406522.1_Missense_Mutation_p.S460L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	523					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGGCAGCCCGACGTGTTCTT	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		20460	0.0		0.0	False		,,,				2504	0.002															0													136	91	106					22																	19966432		2203	4300	6503	SO:0001583	missense	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1568C>T	chr22.hg19:g.19966432G>A	ENSP00000263207:p.Ser523Leu		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	hg19	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930425	0.92389	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	4.43	4.43	0.53597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	M	0.75777	2.31	0.80722	D	1	P;D	0.89917	0.906;1.0	P;D	0.79108	0.475;0.992	T	0.66913	-0.5803	9	.	.	.	-14.4434	17.6161	0.88068	0.0:0.0:1.0:0.0	.	523;45	O00192;E7EV58	ARVC_HUMAN;.	L	523;460;460;460;523	ENSP00000263207:S523L;ENSP00000342042:S460L;ENSP00000384341:S460L;ENSP00000384732:S460L;ENSP00000385444:S523L	.	S	-	2	0	ARVCF	18346432	1.000000	0.71417	0.164000	0.22755	0.982000	0.71751	7.455000	0.80726	2.472000	0.83506	0.563000	0.77884	TCG		0.622	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		A	19966432	G	A	19966432	3	1	653	1	0	0	0	0	1	0	0	0	1003	1059	37	1	1372	1	ARVCF	22	19966432	Missense_Mutation	SNP	G	TCGA-G7-7502-01A-11D-2201-08		19966432	31338134	63	35543											
C22orf13	83606	hgsc.bcm.edu	37	22	24938994	24938994	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr22:24938994A>T	ENST00000407471.3	-	6	893	c.703T>A	c.(703-705)Ttt>Att	p.F235I	GUCD1_ENST00000435822.1_Missense_Mutation_p.F234I|GUCD1_ENST00000402766.1_3'UTR|GUCD1_ENST00000447813.2_3'UTR|GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000404664.3_Missense_Mutation_p.F290I	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	235																	AAGTAGACAAAGAGGATGTCC	0.637																																																0													216	165	182					22																	24938994		2203	4300	6503	SO:0001583	missense	83606			AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 13"	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.703T>A	chr22.hg19:g.24938994A>T	ENSP00000386076:p.Phe235Ile		B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	ENST00000407471.3	hg19	CCDS33621.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.981630	0.93044	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664	.	.	.	5.37	5.37	0.77165	.	0.104223	0.64402	D	0.000003	T	0.70806	0.3266	M	0.69823	2.125	0.80722	D	1	P;P;P;P	0.47409	0.811;0.885;0.895;0.477	P;P;P;B	0.51324	0.489;0.666;0.629;0.327	T	0.72693	-0.4216	9	0.45353	T	0.12	-8.7496	14.5939	0.68392	1.0:0.0:0.0:0.0	.	290;298;191;235	B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;CV013_HUMAN	I	235;234;290	.	ENSP00000381297:F234I	F	-	1	0	C22orf13	23268994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.244000	0.78228	2.037000	0.60232	0.456000	0.33151	TTT		0.637	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	NM_031444		T	24938994	A	T	24938994	3	4	653	1	0	0	0	0	1	0	0	0	2137	72	3	5	23	5	C22orf13	22	24938994	Missense_Mutation	SNP	A	TCGA-G7-7502-01A-11D-2201-08	4972562	24938994	26365572	64	35544											
CSF2RB	1439	hgsc.bcm.edu	37	22	37334445	37334446	+	Missense_Mutation	DNP	GC	GC	TT	rs554053520		TCGA-G7-7502-01A-11D-2201-08	TCGA-G7-7502-10A-01D-2201-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	ea718e65-433a-4e16-82fc-4f8e5be936af	2c767e98-3e53-4915-a687-2e67bc2cedc5	g.chr22:37334445_37334446GC>TT	ENST00000403662.3	+	14	2817_2818	c.2595_2596GC>TT	c.(2593-2598)gtGCcc>gtTTcc	p.P866S	CSF2RB_ENST00000406230.1_Missense_Mutation_p.P872S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P813S|CSF2RB_ENST00000262825.5_Missense_Mutation_p.P872S			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	866					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCAGGCTGTGCCCCAGGTGCC	0.589																																																0																																										SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	Exception_encountered	chr22.hg19:g.37334445_37334446delinsTT	ENSP00000384053:p.Pro866Ser		Q5JZI1|Q6ICE0	Silent|Missense_Mutation	SNP	ENST00000403662.3	hg19	CCDS13936.1																																																																																				0.589	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		TT	37334446	GC	TT	37334445	3	4	653	1	0	0	0	0	1	0	0	0	3937	1306	46	4	2645	4	CSF2RB	22	37334445	Missense_Mutation	DNP	GC	TCGA-G7-7502-01A-11D-2201-08	12395451	37334445	13970121	65	35545											
PAQR7	164091	hgsc.bcm.edu	37	1	26189753	26189755	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr1:26189753_26189755delTTG	ENST00000374296.3	-	2	1242_1244	c.576_578delCAA	c.(574-579)aacaag>aag	p.N192del	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	192					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGATGTACTTGTTATAGCAGG	0.581																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)											0																																										SO:0001651	inframe_deletion	164091				CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"membrane progestin receptor alpha"	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.576_578delCAA	chr1.hg19:g.26189753_26189755delTTG	ENSP00000363414:p.Asn192del		A2A2D3|Q5XKF9|Q86VE4	In_Frame_Del	DEL	ENST00000374296.3	hg19	CCDS267.1																																																																																				0.581	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		-	26189755	TTG	-	26189753	7	5	654	1	0	1	0	1	0	0	0	0	11442	1609	56	0	466	0	PAQR7	1	26189753	In_Frame_Del	DEL	TTG	TCGA-G7-A4TM-01A-11D-A31X-10		26189753	223060868	1	35546											
WASF2	10163	hgsc.bcm.edu	37	1	27736340	27736340	+	Silent	SNP	A	A	G	rs71584884		TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr1:27736340A>G	ENST00000430629.2	-	8	1400	c.1185T>C	c.(1183-1185)ccT>ccC	p.P395P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	395	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggaggagggggaggag	0.642																																																0													51	53	52					1																	27736340		2203	4300	6503	SO:0001819	synonymous_variant	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1185T>C	chr1.hg19:g.27736340A>G			B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	hg19	CCDS304.1																																																																																				0.642	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		G	27736340	A	G	27736340	2	3	654	1	0	0	0	0	0	0	0	1	17258	291	11	3		3	WASF2	1	27736340	Silent	SNP	A	TCGA-G7-A4TM-01A-11D-A31X-10	1546587	27736340	221514281	2	35547											
AHDC1	27245	hgsc.bcm.edu	37	1	27876672	27876673	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr1:27876672_27876673delGT	ENST00000247087.5	-	5	2550_2551	c.1954_1955delAC	c.(1954-1956)accfs	p.T652fs	AHDC1_ENST00000374011.2_Frame_Shift_Del_p.T652fs			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	652							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GATGCTCTGGGTGTCGGGGGCC	0.703																																																0																																										SO:0001589	frameshift_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1954_1955delAC	chr1.hg19:g.27876674_27876675delGT	ENSP00000247087:p.Thr652fs		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Frame_Shift_Del	DEL	ENST00000247087.5	hg19	CCDS30652.1																																																																																				0.703	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			-	27876673	GT	-	27876672	7	5	654	1	0	1	0	1	0	0	0	0	412	1261	44	0	2860	0	AHDC1	1	27876672	Frame_Shift_Del	DEL	GT	TCGA-G7-A4TM-01A-11D-A31X-10	140332	27876672	221373949	3	35548											
FOXJ3	22887	hgsc.bcm.edu	37	1	42744042	42744042	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr1:42744042T>A	ENST00000372572.1	-	5	657	c.346A>T	c.(346-348)Aga>Tga	p.R116*	FOXJ3_ENST00000361776.1_Nonsense_Mutation_p.R116*|FOXJ3_ENST00000372573.1_Nonsense_Mutation_p.R116*|FOXJ3_ENST00000545068.1_Nonsense_Mutation_p.R116*|FOXJ3_ENST00000361346.1_Nonsense_Mutation_p.R116*	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	116					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGCCTCTCTATAATATGGG	0.313																																																0													70	71	70					1																	42744042		2203	4300	6503	SO:0001587	stop_gained	22887			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.346A>T	chr1.hg19:g.42744042T>A	ENSP00000361653:p.Arg116*		A7MBL7|A7MD18|D3DPW2|Q9NSS7	Nonsense_Mutation	SNP	ENST00000372572.1	hg19	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	T	40	8.346624	0.98769	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	.	.	.	5.48	5.48	0.80851	.	0.066191	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.527	0.61601	0.0:0.0:0.0:1.0	.	.	.	.	X	116;116;116;116;116;116;73	.	ENSP00000354620:R116X	R	-	1	2	FOXJ3	42516629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.242000	0.72376	2.082000	0.62665	0.374000	0.22700	AGA		0.313	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		A	42744042	T	A	42744042	4	1	654	1	0	0	0	0	0	1	0	0	6015	1530	53	5	1566	5	FOXJ3	1	42744042	Nonsense_Mutation	SNP	T	TCGA-G7-A4TM-01A-11D-A31X-10	14867370	42744042	206506579	4	35549											
RHOC	389	hgsc.bcm.edu	37	1	113244309	113244309	+	Silent	SNP	C	C	G			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr1:113244309C>G	ENST00000285735.2	-	6	1644	c.435G>C	c.(433-435)cgG>cgC	p.R145R	RHOC_ENST00000369632.2_Silent_p.R145R|RHOC_ENST00000369636.2_Missense_Mutation_p.G125A|RHOC_ENST00000339083.7_Silent_p.R145R|RP11-426L16.10_ENST00000471038.2_5'Flank|RHOC_ENST00000369638.2_Silent_p.R145R|RHOC_ENST00000369642.3_Silent_p.R145R|RHOC_ENST00000369633.2_Silent_p.R145R|RHOC_ENST00000369637.1_Silent_p.R145R			P08134	RHOC_HUMAN	ras homolog family member C	145					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGCCATGTCCCGGCCTTCCT	0.572																																																0													107	95	99					1																	113244309		2203	4300	6503	SO:0001819	synonymous_variant	389			BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"ras homolog gene family, member C"	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.435G>C	chr1.hg19:g.113244309C>G			B3KSW1|Q6ICN3	Silent	SNP	ENST00000285735.2	hg19	CCDS854.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706628	0.30232	.	.	ENSG00000155366	ENST00000369636	T	0.71222	-0.55	5.13	2.24	0.28232	.	0.480686	0.15126	U	0.279101	T	0.46347	0.1388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37911	-0.9685	7	0.25106	T	0.35	-8.222	4.4249	0.11498	0.0:0.4765:0.1577:0.3659	.	.	.	.	A	125	ENSP00000358650:G125A	ENSP00000358650:G125A	G	-	2	0	RHOC	113045832	0.998000	0.40836	1.000000	0.80357	0.865000	0.49528	0.626000	0.24492	0.196000	0.20367	-1.254000	0.01491	GGG		0.572	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		G	113244309	C	G	113244309	2	3	654	1	0	0	0	0	0	0	0	1	13342	610	22	4		4	RHOC	1	113244309	Silent	SNP	C	TCGA-G7-A4TM-01A-11D-A31X-10	70500267	113244309	136006312	5	35550											
CENPF	1063	hgsc.bcm.edu	37	1	214815619	214815619	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr1:214815619A>T	ENST00000366955.3	+	12	4106	c.3938A>T	c.(3937-3939)gAa>gTa	p.E1313V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGCAGGCTGAAAAGTATGAA	0.393																																					Colon(80;575 1284 11000 14801 43496)											0													76	76	76					1																	214815619		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3938A>T	chr1.hg19:g.214815619A>T	ENSP00000355922:p.Glu1313Val		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.694781	0.30052	.	.	ENSG00000117724	ENST00000366955	T	0.28255	1.62	4.77	3.61	0.41365	.	0.207947	0.24020	N	0.042296	T	0.51126	0.1656	.	.	.	0.34578	D	0.714136	D	0.89917	1.0	D	0.71414	0.973	T	0.63980	-0.6514	9	0.87932	D	0	.	9.1524	0.36971	0.9148:0.0:0.0852:0.0	.	1313	P49454	CENPF_HUMAN	V	1313	ENSP00000355922:E1313V	ENSP00000355922:E1313V	E	+	2	0	CENPF	212882242	1.000000	0.71417	0.077000	0.20336	0.052000	0.14988	5.178000	0.65037	0.631000	0.30412	0.418000	0.28097	GAA		0.393	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		T	214815619	A	T	214815619	3	4	654	1	0	0	0	0	1	0	0	0	3233	246	9	5	3980	5	CENPF	1	214815619	Missense_Mutation	SNP	A	TCGA-G7-A4TM-01A-11D-A31X-10	101571310	214815619	34435002	6	35551											
SLC3A1	6519	hgsc.bcm.edu	37	2	44539791	44539791	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr2:44539791A>G	ENST00000260649.6	+	8	1475	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	SLC3A1_ENST00000409387.1_Missense_Mutation_p.M467V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.M467V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.M467V|SLC3A1_ENST00000409294.1_Missense_Mutation_p.M87V|SLC3A1_ENST00000409380.1_Missense_Mutation_p.M189V|SLC3A1_ENST00000409740.3_Missense_Mutation_p.M98V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	467			M -> K (in CSNU). {ECO:0000269|PubMed:8054986}.|M -> T (in CSNU; loss of 80% of amino acid transport activity). {ECO:0000269|PubMed:11748844, ECO:0000269|PubMed:12234283, ECO:0000269|PubMed:8054986, ECO:0000269|PubMed:9186880}.		amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CGTGATGAACATGCTTCTTTT	0.408																																																0													141	128	132					2																	44539791		2203	4300	6503	SO:0001583	missense	6519				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1399A>G	chr2.hg19:g.44539791A>G	ENSP00000260649:p.Met467Val		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	hg19	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955494	0.53293	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380;ENST00000409294;ENST00000409740	D;D;D;D;D;D;D	0.99454	-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92	5.82	4.64	0.57946	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.036710	0.85682	D	0.000000	D	0.98710	0.9567	L	0.52364	1.645	0.58432	D	0.999999	B;B;P;P	0.44776	0.387;0.374;0.843;0.716	B;B;P;P	0.48815	0.194;0.194;0.591;0.511	D	0.97965	1.0340	10	0.51188	T	0.08	-23.3976	13.0393	0.58889	0.8655:0.1345:0.0:0.0	.	467;467;467;467	Q07837;B8ZZK1;Q4J6B5;Q4J6B6	SLC31_HUMAN;.;.;.	V	467;467;403;467;467;467;189;87;98	ENSP00000260649:M467V;ENSP00000387308:M467V;ENSP00000386954:M467V;ENSP00000386620:M467V;ENSP00000386709:M189V;ENSP00000386852:M87V;ENSP00000386677:M98V	ENSP00000260649:M467V	M	+	1	0	SLC3A1	44393295	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.273000	0.65564	0.987000	0.38709	0.477000	0.44152	ATG		0.408	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		G	44539791	A	G	44539791	3	3	654	1	0	0	0	0	1	0	0	0	14632	217	8	3	1429	3	SLC3A1	2	44539791	Missense_Mutation	SNP	A	TCGA-G7-A4TM-01A-11D-A31X-10		44539791	198659582	7	35552											
DCBLD2	131566	hgsc.bcm.edu	37	3	98600601	98600601	+	Silent	SNP	A	A	G			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr3:98600601A>G	ENST00000326840.6	-	2	578	c.216T>C	c.(214-216)tgT>tgC	p.C72C	DCBLD2_ENST00000326857.9_Silent_p.C72C|DCBLD2_ENST00000469648.1_Intron	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	72	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CAGTGTGTCCACATCCATCAC	0.363																																																0													127	119	121					3																	98600601		1874	4109	5983	SO:0001819	synonymous_variant	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.216T>C	chr3.hg19:g.98600601A>G			B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	ENST00000326840.6	hg19	CCDS46878.1																																																																																				0.363	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		G	98600601	A	G	98600601	2	3	654	1	0	0	0	0	0	0	0	1	4283	157	6	3		3	DCBLD2	3	98600601	Silent	SNP	A	TCGA-G7-A4TM-01A-11D-A31X-10		98600601	99421829	8	35553											
EXOSC9	5393	hgsc.bcm.edu	37	4	122722615	122722615	+	Silent	SNP	C	C	T	rs150604288		TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr4:122722615C>T	ENST00000243498.5	+	1	144	c.36C>T	c.(34-36)cgC>cgT	p.R12R	EXOSC9_ENST00000379663.3_Silent_p.R12R|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000512454.1_5'Flank	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	12	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GCGAACGCCGCTTCCTACTCC	0.582																																																0													84	82	83					4																	122722615		2203	4300	6503	SO:0001819	synonymous_variant	5393			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.36C>T	chr4.hg19:g.122722615C>T			Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	ENST00000243498.5	hg19	CCDS3722.2																																																																																				0.582	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		T	122722615	C	T	122722615	2	4	654	1	0	0	0	0	0	0	0	1	5323	784	28	2		2	EXOSC9	4	122722615	Silent	SNP	C	TCGA-G7-A4TM-01A-11D-A31X-10		122722615	68431661	9	35554											
RGNEF	64283	hgsc.bcm.edu	37	5	73207182	73207182	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr5:73207182A>T	ENST00000426542.2	+	34	4750	c.4730A>T	c.(4729-4731)aAc>aTc	p.N1577I	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.N1577I|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.N1264I|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.N1577I|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.N1577I|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.N1533I|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.N1577I|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.N497I			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1577	Interaction with microtubules. {ECO:0000250}.|Mediates cytoplasmic retention and interaction with MAPK8IP1. {ECO:0000250}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										ATGTCATTTAACACTTTCAAC	0.363																																																0													76	70	72					5																	73207182		1930	4126	6056	SO:0001583	missense	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.4730A>T	chr5.hg19:g.73207182A>T	ENSP00000412175:p.Asn1577Ile		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	hg19	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793921	0.50102	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.36157	2.92;2.93;2.88;2.62;2.93;2.88;2.72;1.27	5.3	5.3	0.74995	.	0.000000	0.35349	U	0.003279	T	0.53481	0.1799	M	0.69823	2.125	0.32983	D	0.52386	P;P;P;D;P	0.62365	0.692;0.916;0.951;0.991;0.95	B;P;P;D;P	0.64042	0.232;0.604;0.626;0.921;0.65	T	0.68356	-0.5430	10	0.87932	D	0	.	8.6768	0.34185	0.9063:0.0:0.0937:0.0	.	1264;1577;1577;497;1577	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	I	1577;1577;1577;1533;1577;1577;1264;497	ENSP00000296794:N1577I;ENSP00000441913:N1577I;ENSP00000441436:N1577I;ENSP00000287898:N1533I;ENSP00000411459:N1577I;ENSP00000412175:N1577I;ENSP00000296799:N1264I;ENSP00000421081:N497I	ENSP00000287898:N1533I	N	+	2	0	RP11-428C6.1	73242938	0.998000	0.40836	0.986000	0.45419	0.532000	0.34746	3.430000	0.52807	2.006000	0.58801	0.443000	0.29094	AAC		0.363	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			T	73207182	A	T	73207182	3	4	654	1	0	0	0	0	1	0	0	0	13289	43	2	5	4864	5	RGNEF	5	73207182	Missense_Mutation	SNP	A	TCGA-G7-A4TM-01A-11D-A31X-10		73207182	107708078	10	35555											
MAML1	9794	hgsc.bcm.edu	37	5	179201053	179201053	+	Silent	SNP	G	G	A			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr5:179201053G>A	ENST00000292599.3	+	5	2489	c.2226G>A	c.(2224-2226)gtG>gtA	p.V742V	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCGGGGTGTGGCTCAGTTCC	0.592																																																0													54	55	55					5																	179201053		2203	4300	6503	SO:0001819	synonymous_variant	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2226G>A	chr5.hg19:g.179201053G>A				Silent	SNP	ENST00000292599.3	hg19	CCDS34315.1																																																																																				0.592	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		A	179201053	G	A	179201053	2	1	654	1	0	0	0	0	0	0	0	1	9207	1335	47	2		2	MAML1	5	179201053	Silent	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10	105993871	179201053	1714207	11	35556											
DSP	1832	hgsc.bcm.edu	37	6	7584156	7584156	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr6:7584156G>C	ENST00000379802.3	+	24	7002	c.6661G>C	c.(6661-6663)Gag>Cag	p.E2221Q	DSP_ENST00000418664.2_Missense_Mutation_p.E1622Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2221	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACCGTCACTGAGCTAGTAGA	0.458																																																0													119	109	112					6																	7584156		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6661G>C	chr6.hg19:g.7584156G>C	ENSP00000369129:p.Glu2221Gln		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015584	0.54468	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.70399	-0.48;-0.48	5.62	5.62	0.85841	.	0.098059	0.45361	D	0.000376	T	0.74114	0.3674	L	0.48877	1.53	0.36056	D	0.841104	P;D	0.76494	0.526;0.999	B;P	0.60886	0.141;0.88	T	0.72440	-0.4293	10	0.41790	T	0.15	.	20.0281	0.97530	0.0:0.0:1.0:0.0	.	1669;2221	Q4LE79;P15924	.;DESP_HUMAN	Q	2221;1622	ENSP00000369129:E2221Q;ENSP00000396591:E1622Q	ENSP00000369129:E2221Q	E	+	1	0	DSP	7529155	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.483000	0.73617	2.818000	0.97014	0.655000	0.94253	GAG		0.458	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		C	7584156	G	C	7584156	3	2	654	1	0	0	0	0	1	0	0	0	4783	1291	45	4	6755	4	DSP	6	7584156	Missense_Mutation	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10		7584156	163530911	12	35557											
MLL3	58508	hgsc.bcm.edu	37	7	151874152	151874158	+	Frame_Shift_Del	DEL	TTTTTGG	TTTTTGG	-	rs79763944|rs78116609		TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	TTTTTGG	TTTTTGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr7:151874152_151874158delTTTTTGG	ENST00000262189.6	-	38	8598_8604	c.8380_8386delCCAAAAA	c.(8380-8388)ccaaaaaaafs	p.PKK2794fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.PKK2794fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2794					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGTTCCTTTTTTTTTGGTTCAACAGAT	0.357																																																0																																										SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8380_8386delCCAAAAA	chr7.hg19:g.151874152_151874158delTTTTTGG	ENSP00000262189:p.Pro2794fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	hg19	CCDS5931.1																																																																																				0.357	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			-	151874158	TTTTTGG	-	151874152	7	5	654	1	0	1	0	1	0	0	0	0	9624	1850	64	0	6437	0	MLL3	7	151874152	Frame_Shift_Del	DEL	TTTTTGG	TCGA-G7-A4TM-01A-11D-A31X-10		151874152	7264511	13	35558											
NAT1	9	hgsc.bcm.edu	37	8	18080420	18080420	+	Silent	SNP	T	T	C			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr8:18080420T>C	ENST00000517492.1	+	3	1502	c.864T>C	c.(862-864)ttT>ttC	p.F288F	NAT1_ENST00000535084.1_Silent_p.F288F|NAT1_ENST00000541942.1_Silent_p.F288F|NAT1_ENST00000539092.1_Silent_p.F288F|NAT1_ENST00000518029.1_Silent_p.F288F|NAT1_ENST00000545197.1_Silent_p.F350F|NAT1_ENST00000307719.4_Silent_p.F288F|NAT1_ENST00000520546.1_Silent_p.F288F			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ATAGATTTTTTACTATTTAGA	0.343																																																0													28	30	29					8																	18080420		2185	4285	6470	SO:0001819	synonymous_variant	9			BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.864T>C	chr8.hg19:g.18080420T>C			C9JWA6|Q86SY5	Silent	SNP	ENST00000517492.1	hg19	CCDS6007.1																																																																																				0.343	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374828.1	NM_000662		C	18080420	T	C	18080420	2	2	654	1	0	0	0	0	0	0	0	1	10175	1751	61	3		3	NAT1	8	18080420	Silent	SNP	T	TCGA-G7-A4TM-01A-11D-A31X-10		18080420	128283602	14	35559											
CLTA	1211	hgsc.bcm.edu	37	9	36209297	36209297	+	Silent	SNP	C	C	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr9:36209297C>T	ENST00000242285.6	+	5	639	c.519C>T	c.(517-519)ttC>ttT	p.F173F	CLTA_ENST00000396603.2_Silent_p.F173F|CLTA_ENST00000433436.2_Silent_p.F173F|CLTA_ENST00000470744.1_Intron|CLTA_ENST00000345519.5_Intron|CLTA_ENST00000538225.1_Intron|CLTA_ENST00000540080.1_Intron|CLTA_ENST00000466396.1_Silent_p.F121F			P09496	CLCA_HUMAN	clathrin, light chain A	173					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			AACAACCCTTCGCTGACGTGA	0.403																																																0													191	165	174					9																	36209297		2203	4300	6503	SO:0001819	synonymous_variant	1211				CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"clathrin, light polypeptide (Lca)"			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.519C>T	chr9.hg19:g.36209297C>T			A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Silent	SNP	ENST00000242285.6	hg19	CCDS6601.1																																																																																				0.403	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052405.1	NM_007096		T	36209297	C	T	36209297	2	4	654	1	0	0	0	0	0	0	0	1	3566	883	31	1		1	CLTA	9	36209297	Silent	SNP	C	TCGA-G7-A4TM-01A-11D-A31X-10		36209297	105004134	15	35560											
PRUNE2	158471	hgsc.bcm.edu	37	9	79318374	79318374	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr9:79318374G>A	ENST00000376718.3	-	9	8278	c.8155C>T	c.(8155-8157)Cat>Tat	p.H2719Y	PRUNE2_ENST00000428286.1_Missense_Mutation_p.H2360Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2719					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCATTGTCATGGGTGACAGCC	0.527																																																0													102	83	89					9																	79318374		1568	3582	5150	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8155C>T	chr9.hg19:g.79318374G>A	ENSP00000365908:p.His2719Tyr		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	hg19	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.75|17.75	3.465272|3.465272	0.63513|0.63513	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.49720|.	0.77;0.78|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.102782|.	0.43747|.	D|.	0.000523|.	T|T	0.71187|0.71187	0.3310|0.3310	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	P;P|.	0.51653|.	0.898;0.947|.	B;B|.	0.43867|.	0.434;0.335|.	T|T	0.68957|0.68957	-0.5272|-0.5272	10|5	0.72032|.	D|.	0.01|.	-6.6465|-6.6465	14.0742|14.0742	0.64880|0.64880	0.0:0.1938:0.8062:0.0|0.0:0.1938:0.8062:0.0	.|.	2719;2719|.	Q8WUY3-3;Q8WUY3|.	.;PRUN2_HUMAN|.	Y|L	2719;2360;2718|2040	ENSP00000365908:H2719Y;ENSP00000397425:H2360Y|.	ENSP00000365908:H2719Y|.	H|P	-|-	1|2	0|0	PRUNE2|PRUNE2	78508194|78508194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.640000|0.640000	0.38277|0.38277	4.226000|4.226000	0.58606|0.58606	2.814000|2.814000	0.96858|0.96858	0.586000|0.586000	0.80456|0.80456	CAT|CCA		0.527	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		A	79318374	G	A	79318374	3	1	654	1	0	0	0	0	1	0	0	0	12646	1348	47	2	1155	2	PRUNE2	9	79318374	Missense_Mutation	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10	43109077	79318374	61895057	16	35561											
WAPAL	23063	hgsc.bcm.edu	37	10	88227091	88227091	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr10:88227091A>G	ENST00000298767.5	-	9	2787	c.2315T>C	c.(2314-2316)aTc>aCc	p.I772T	WAPAL_ENST00000372075.1_Missense_Mutation_p.I39T|WAPAL_ENST00000263070.7_Missense_Mutation_p.I39T	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	772	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.I772T(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GAGCCTTCGGATTTTTTCTTT	0.368																																																1	Substitution - Missense(1)	lung(1)											180	167	171					10																	88227091		2203	4300	6503	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2315T>C	chr10.hg19:g.88227091A>G	ENSP00000298767:p.Ile772Thr		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	hg19	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.484052	0.84854	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T	0.48201	0.82	5.99	5.99	0.97316	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.99;0.998;0.996	T	0.69537	-0.5119	10	0.72032	D	0.01	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	766;810;772;809	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	T	857;772;857;39;39	ENSP00000298767:I772T	ENSP00000263070:I39T	I	-	2	0	WAPAL	88217071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.336000	0.96533	2.291000	0.77112	0.533000	0.62120	ATC		0.368	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		G	88227091	A	G	88227091	3	3	654	1	0	0	0	0	1	0	0	0	17253	333	12	3	1301	3	WAPAL	10	88227091	Missense_Mutation	SNP	A	TCGA-G7-A4TM-01A-11D-A31X-10		88227091	47307656	17	35562											
AHNAK	79026	hgsc.bcm.edu	37	11	62301415	62301415	+	Silent	SNP	C	C	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr11:62301415C>T	ENST00000378024.4	-	5	748	c.474G>A	c.(472-474)acG>acA	p.T158T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	158					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGTGTAGGCCGTGACCCTTC	0.532																																																0													136	119	124					11																	62301415		2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.474G>A	chr11.hg19:g.62301415C>T			A1A586	Silent	SNP	ENST00000378024.4	hg19	CCDS31584.1																																																																																				0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		T	62301415	C	T	62301415	2	4	654	1	0	0	0	0	0	0	0	1	414	639	23	1		1	AHNAK	11	62301415	Silent	SNP	C	TCGA-G7-A4TM-01A-11D-A31X-10		62301415	72705101	18	35563											
PIWIL4	143689	hgsc.bcm.edu	37	11	94341805	94341805	+	Silent	SNP	C	C	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr11:94341805C>T	ENST00000299001.6	+	15	2107	c.1896C>T	c.(1894-1896)gaC>gaT	p.D632D	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	632	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAGCAAGGACGTGATGGTTG	0.393																																																0													269	236	247					11																	94341805		2201	4298	6499	SO:0001819	synonymous_variant	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1896C>T	chr11.hg19:g.94341805C>T			B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	hg19	CCDS31656.1																																																																																				0.393	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		T	94341805	C	T	94341805	2	4	654	1	0	0	0	0	0	0	0	1	11962	535	19	1		1	PIWIL4	11	94341805	Silent	SNP	C	TCGA-G7-A4TM-01A-11D-A31X-10	32040390	94341805	40664711	19	35564											
FAM60A	58516	hgsc.bcm.edu	37	12	31448170	31448170	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr12:31448170G>A	ENST00000337682.4	-	3	594	c.226C>T	c.(226-228)Cat>Tat	p.H76Y	FAM60A_ENST00000454658.2_Missense_Mutation_p.H76Y|FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	76					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GGACTAACATGATTCCAGTTT	0.373																																																0													82	74	77					12																	31448170		2203	4300	6503	SO:0001583	missense	58516			AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"chromosome 12 open reading frame 14"	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.226C>T	chr12.hg19:g.31448170G>A	ENSP00000337477:p.His76Tyr		D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	hg19	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261331	0.80246	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.76575	0.969;0.988	D	0.84590	0.0666	10	0.87932	D	0	-1.1171	17.1323	0.86729	0.0:0.0:1.0:0.0	.	76;117	Q9NP50;B7Z287	FA60A_HUMAN;.	Y	76;76;117;76;76	ENSP00000337477:H76Y;ENSP00000393279:H76Y;ENSP00000443881:H76Y;ENSP00000437363:H76Y	ENSP00000337477:H76Y	H	-	1	0	FAM60A	31339437	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.457000	0.97630	2.343000	0.79666	0.561000	0.74099	CAT		0.373	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		A	31448170	G	A	31448170	3	1	654	1	0	0	0	0	1	0	0	0	5597	1290	45	2	455	2	FAM60A	12	31448170	Missense_Mutation	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10		31448170	102403725	20	35565											
KCTD10	83892	hgsc.bcm.edu	37	12	109889450	109889450	+	Silent	SNP	G	G	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr12:109889450G>T	ENST00000228495.6	-	7	1173	c.892C>A	c.(892-894)Cgg>Agg	p.R298R	KCTD10_ENST00000424763.2_Silent_p.R117R|KCTD10_ENST00000540089.1_Silent_p.R117R|KCTD10_ENST00000540411.1_Silent_p.R272R|KCTD10_ENST00000538161.1_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	298					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TGGATCCTCCGCACGCGCTCG	0.721																																																0													53	49	50					12																	109889450		2203	4300	6503	SO:0001819	synonymous_variant	83892			BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"BTB/POZ domain containing"	23236	protein-coding gene	gene with protein product		613421	"potassium channel tetramerisation domain containing 10"			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.892C>A	chr12.hg19:g.109889450G>T			Q53HN2|Q59FV1|Q6PL47|Q96SU0	Silent	SNP	ENST00000228495.6	hg19	CCDS9128.1	.	.	.	.	.	.	.	.	.	.	G	9.426	1.084203	0.20309	.	.	ENSG00000110906	ENST00000538161	.	.	.	4.97	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.5015	11.8876	0.52610	0.0:0.0:0.6832:0.3168	.	.	.	.	X	263	.	.	C	-	3	2	KCTD10	108373833	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.414000	0.66405	1.407000	0.46875	0.655000	0.94253	TGC		0.721	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		T	109889450	G	T	109889450	2	4	654	1	0	0	0	0	0	0	0	1	8099	1086	38	4		4	KCTD10	12	109889450	Silent	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10	78441280	109889450	23962445	21	35566											
ELL3	80237	hgsc.bcm.edu	37	15	44067740	44067740	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr15:44067740C>T	ENST00000319359.3	-	5	1193	c.552G>A	c.(550-552)atG>atA	p.M184I	RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'Flank|SERF2_ENST00000381359.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	184					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CCCACTGTGCCATGTGCTCCC	0.498											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													154	133	140					15																	44067740		2198	4298	6496	SO:0001583	missense	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.552G>A	chr15.hg19:g.44067740C>T	ENSP00000320346:p.Met184Ile	921	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	ENST00000319359.3	hg19	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299310	0.40694	.	.	ENSG00000128886	ENST00000319359	T	0.29397	1.57	5.75	2.65	0.31530	.	0.896720	0.09670	N	0.771265	T	0.23492	0.0568	L	0.47716	1.5	0.28997	N	0.887675	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.30707	-0.9969	10	0.19147	T	0.46	-31.8363	4.8606	0.13581	0.1517:0.6198:0.1467:0.0818	.	184;184;138	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	I	184	ENSP00000320346:M184I	ENSP00000320346:M184I	M	-	3	0	ELL3	41855032	0.017000	0.18338	0.948000	0.38648	0.979000	0.70002	-0.179000	0.09768	0.734000	0.32515	0.555000	0.69702	ATG		0.498	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165		T	44067740	C	T	44067740	3	4	654	1	0	0	0	0	1	0	0	0	5066	594	21	2	669	2	ELL3	15	44067740	Missense_Mutation	SNP	C	TCGA-G7-A4TM-01A-11D-A31X-10		44067740	58463652	22	35567											
SGK269	79834	hgsc.bcm.edu	37	15	77450971	77450971	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr15:77450971C>A	ENST00000560626.2	-	5	3680	c.3205G>T	c.(3205-3207)Gat>Tat	p.D1069Y	PEAK1_ENST00000312493.4_Missense_Mutation_p.D1069Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1069					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCCCTGCCATCTTGCTTCCCA	0.473																																																0													127	119	122					15																	77450971		1933	4139	6072	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3205G>T	chr15.hg19:g.77450971C>A	ENSP00000452796:p.Asp1069Tyr		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	hg19	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826500	0.50739	.	.	ENSG00000173517	ENST00000312493	T	0.69685	-0.42	5.4	4.49	0.54785	.	0.667769	0.14142	N	0.338611	T	0.52092	0.1713	N	0.14661	0.345	0.28725	N	0.902826	P	0.44090	0.826	B	0.41723	0.365	T	0.50717	-0.8795	10	0.59425	D	0.04	-3.0393	12.2917	0.54823	0.0:0.9219:0.0:0.0781	.	1069	Q9H792	PEAK1_HUMAN	Y	1069	ENSP00000309230:D1069Y	ENSP00000309230:D1069Y	D	-	1	0	AC087465.1	75238026	1.000000	0.71417	0.993000	0.49108	0.748000	0.42578	4.715000	0.61909	1.275000	0.44379	0.563000	0.77884	GAT		0.473	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			A	77450971	C	A	77450971	3	1	654	1	0	0	0	0	1	0	0	0	14217	913	32	4	2047	4	SGK269	15	77450971	Missense_Mutation	SNP	C	TCGA-G7-A4TM-01A-11D-A31X-10	33383231	77450971	25080421	23	35568											
CREBBP	1387	hgsc.bcm.edu	37	16	3860637	3860637	+	Silent	SNP	G	G	A			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr16:3860637G>A	ENST00000262367.5	-	3	1751	c.942C>T	c.(940-942)atC>atT	p.I314I	CREBBP_ENST00000382070.3_Silent_p.I314I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	314	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGTATTCTTGATATCTGTAG	0.517			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													212	196	201					16																	3860637		2197	4300	6497	SO:0001819	synonymous_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.942C>T	chr16.hg19:g.3860637G>A			D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	hg19	CCDS10509.1																																																																																				0.517	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		A	3860637	G	A	3860637	2	1	654	1	0	0	0	0	0	0	0	1	3863	1280	45	2		2	CREBBP	16	3860637	Silent	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10		3860637	86494116	24	35569											
ABCC1	4363	hgsc.bcm.edu	37	16	16180696	16180696	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr16:16180696G>A	ENST00000399410.3	+	18	2483	c.2308G>A	c.(2308-2310)Ggg>Agg	p.G770R	ABCC1_ENST00000345148.5_Missense_Mutation_p.G770R|ABCC1_ENST00000399408.2_Missense_Mutation_p.G770R|ABCC1_ENST00000346370.5_Intron|ABCC1_ENST00000351154.5_Missense_Mutation_p.G711R|ABCC1_ENST00000349029.5_Intron	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	770	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GAACCTGTCTGGGGGCCAGAA	0.587																																																0													60	71	68					16																	16180696		2181	4293	6474	SO:0001583	missense	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2308G>A	chr16.hg19:g.16180696G>A	ENSP00000382342:p.Gly770Arg		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	hg19	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195409	0.94960	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000351154;ENST00000345148;ENST00000536381	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	5.38	5.38	0.77491	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98658	0.9550	H	0.99182	4.46	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.993;0.978;1.0;1.0	D	0.99712	1.1007	10	0.87932	D	0	-31.1556	18.1249	0.89583	0.0:0.0:1.0:0.0	.	770;711;770;770	P33527-4;P33527-2;P33527;P33527-9	.;.;MRP1_HUMAN;.	R	770;770;711;770;444	ENSP00000382342:G770R;ENSP00000382340:G770R;ENSP00000263017:G711R;ENSP00000263014:G770R	ENSP00000263014:G770R	G	+	1	0	ABCC1	16088197	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	9.697000	0.98697	2.520000	0.84964	0.563000	0.77884	GGG		0.587	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		A	16180696	G	A	16180696	3	1	654	1	0	0	0	0	1	0	0	0	49	1348	47	2	2378	2	ABCC1	16	16180696	Missense_Mutation	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10	12320059	16180696	74174057	25	35570											
TNRC6A	27327	hgsc.bcm.edu	37	16	24788620	24788620	+	Missense_Mutation	SNP	C	C	G	rs201630200		TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr16:24788620C>G	ENST00000395799.3	+	5	659	c.530C>G	c.(529-531)gCt>gGt	p.A177G	TNRC6A_ENST00000315183.7_Missense_Mutation_p.A177G	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	177	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GAAAGCAGTGCTTTAACAAAT	0.433																																																0													137	141	140					16																	24788620		2064	4235	6299	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.530C>G	chr16.hg19:g.24788620C>G	ENSP00000379144:p.Ala177Gly		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	hg19	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446741	0.43429	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12774	2.65;2.65	5.72	4.72	0.59763	.	0.361735	0.29783	N	0.011217	T	0.11110	0.0271	N	0.19112	0.55	0.80722	D	1	B	0.20261	0.043	B	0.19946	0.027	T	0.17228	-1.0376	10	0.26408	T	0.33	-7.991	18.3586	0.90367	0.0:0.8717:0.1283:0.0	.	177	Q8NDV7	TNR6A_HUMAN	G	177	ENSP00000326900:A177G;ENSP00000379144:A177G	ENSP00000326900:A177G	A	+	2	0	TNRC6A	24696121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.054000	0.49908	2.687000	0.91594	0.591000	0.81541	GCT		0.433	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		G	24788620	C	G	24788620	3	3	654	1	0	0	0	0	1	0	0	0	16345	797	28	4	548	4	TNRC6A	16	24788620	Missense_Mutation	SNP	C	TCGA-G7-A4TM-01A-11D-A31X-10	8607924	24788620	65566133	26	35571											
COG4	25839	hgsc.bcm.edu	37	16	70548271	70548271	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr16:70548271A>T	ENST00000323786.5	-	4	532	c.511T>A	c.(511-513)Tcg>Acg	p.S171T	COG4_ENST00000393612.4_Missense_Mutation_p.S167T|COG4_ENST00000564653.1_Missense_Mutation_p.S171T	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	167					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				tcaatgaccgACTTGTCCAGG	0.468																																																0													89	75	80					16																	70548271		2198	4300	6498	SO:0001583	missense	25839			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.511T>A	chr16.hg19:g.70548271A>T	ENSP00000315775:p.Ser171Thr		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	hg19	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316795	0.81469	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	T;T;T	0.46819	0.86;0.86;1.12	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	L	0.41961	1.31	0.80722	D	1	B;B	0.24368	0.057;0.102	B;B	0.20955	0.032;0.018	T	0.20706	-1.0267	10	0.25751	T	0.34	-5.8107	15.6224	0.76816	1.0:0.0:0.0:0.0	.	166;167	Q6PIW8;Q9H9E3	.;COG4_HUMAN	T	171;167;167;94	ENSP00000315775:S171T;ENSP00000377236:S167T;ENSP00000461912:S94T	ENSP00000315775:S171T	S	-	1	0	COG4	69105772	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.758000	0.91663	2.093000	0.63338	0.459000	0.35465	TCG		0.468	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			T	70548271	A	T	70548271	3	4	654	1	0	0	0	0	1	0	0	0	3662	275	10	5	1922	5	COG4	16	70548271	Missense_Mutation	SNP	A	TCGA-G7-A4TM-01A-11D-A31X-10	45759651	70548271	19806482	27	35572											
KIAA0100	9703	hgsc.bcm.edu	37	17	26943696	26943696	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr17:26943696G>C	ENST00000528896.2	-	35	6171	c.6097C>G	c.(6097-6099)Cga>Gga	p.R2033G	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1890G|SGK494_ENST00000301037.5_5'Flank|KIAA0100_ENST00000579924.2_5'UTR|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1890G|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000577790.1_5'Flank|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000534850.1_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2033						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCCACACTTCGGCCAGGAAAG	0.448																																																0													118	121	120					17																	26943696		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6097C>G	chr17.hg19:g.26943696G>C	ENSP00000436773:p.Arg2033Gly		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483328	0.63962	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.46819	0.86;0.86	5.87	5.87	0.94306	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67205	-0.5729	10	0.39692	T	0.17	.	20.1947	0.98239	0.0:0.0:1.0:0.0	.	2033	Q14667	K0100_HUMAN	G	2033;2003;2033;1890	ENSP00000436773:R2033G;ENSP00000446443:R1890G	ENSP00000005905:R2033G	R	-	1	2	KIAA0100	23967823	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.682000	0.54656	2.780000	0.95670	0.561000	0.74099	CGA		0.448	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		C	26943696	G	C	26943696	3	2	654	1	0	0	0	0	1	0	0	0	8156	1124	39	4	630	4	KIAA0100	17	26943696	Missense_Mutation	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10		26943696	54251514	28	35573											
HOXB4	3214	hgsc.bcm.edu	37	17	46654346	46654346	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr17:46654346G>T	ENST00000332503.5	-	2	2285	c.494C>A	c.(493-495)tCt>tAt	p.S165Y	HOXB3_ENST00000311626.4_5'Flank|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000490677.1_5'Flank|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000489475.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	165					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GGCGGTCCGAGAGCGCTTGGG	0.592																																																0													53	58	56					17																	46654346		2203	4300	6503	SO:0001583	missense	3214				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"Homeoboxes / ANTP class : HOXL subclass"	5115	protein-coding gene	gene with protein product		142965	"homeo box B4"	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.494C>A	chr17.hg19:g.46654346G>T	ENSP00000328928:p.Ser165Tyr		Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	hg19	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923509	0.92319	.	.	ENSG00000182742	ENST00000332503	D	0.96365	-3.99	5.27	5.27	0.74061	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96836	0.8967	L	0.33710	1.025	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97955	1.0334	10	0.87932	D	0	.	18.4966	0.90867	0.0:0.0:1.0:0.0	.	165	P17483	HXB4_HUMAN	Y	165	ENSP00000328928:S165Y	ENSP00000328928:S165Y	S	-	2	0	HOXB4	44009345	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.842000	0.99487	2.456000	0.83038	0.561000	0.74099	TCT		0.592	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			T	46654346	G	T	46654346	3	4	654	1	0	0	0	0	1	0	0	0	7305	942	33	4	265	4	HOXB4	17	46654346	Missense_Mutation	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10	19710650	46654346	34540864	29	35574											
KIAA0195	9772	hgsc.bcm.edu	37	17	73487468	73487468	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr17:73487468G>T	ENST00000314256.7	+	13	1712	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	KIAA0195_ENST00000375248.5_Nonsense_Mutation_p.E450*|KIAA0195_ENST00000579208.1_Nonsense_Mutation_p.E91*	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	440						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGAAGGTGGAGCCCCCTCA	0.602																																																0													102	89	93					17																	73487468		2203	4300	6503	SO:0001587	stop_gained	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1318G>T	chr17.hg19:g.73487468G>T	ENSP00000313885:p.Glu440*		O75536|Q86XF1	Nonsense_Mutation	SNP	ENST00000314256.7	hg19	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089916	0.94149	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	.	.	.	5.84	4.86	0.63082	.	0.100124	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-25.239	16.9369	0.86205	0.0:0.1279:0.8721:0.0	.	.	.	.	X	440;450	.	ENSP00000313885:E440X	E	+	1	0	KIAA0195	70999063	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.741000	0.98843	1.465000	0.48006	0.591000	0.81541	GAG		0.602	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		T	73487468	G	T	73487468	4	4	654	1	0	0	0	0	0	1	0	0	8162	1175	41	4	1364	4	KIAA0195	17	73487468	Nonsense_Mutation	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10	26833122	73487468	7707742	30	35575											
ACER1	125981	hgsc.bcm.edu	37	19	6307219	6307219	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr19:6307219G>T	ENST00000301452.4	-	5	648	c.571C>A	c.(571-573)Cgt>Agt	p.R191S		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	191					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CAAAGCAGACGGTCACTGATC	0.542																																																0													89	86	87					19																	6307219		2203	4300	6503	SO:0001583	missense	125981			AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"Alkaline ceramidase"	18356	protein-coding gene	gene with protein product		613491	"N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.571C>A	chr19.hg19:g.6307219G>T	ENSP00000301452:p.Arg191Ser			Missense_Mutation	SNP	ENST00000301452.4	hg19	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037897	0.75617	.	.	ENSG00000167769	ENST00000301452	T	0.47177	0.85	5.58	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.68668	0.3026	M	0.87900	2.915	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.75932	-0.3143	10	0.87932	D	0	-21.1368	12.8258	0.57718	0.0:0.0:0.7048:0.2952	.	191	Q8TDN7	ACER1_HUMAN	S	191	ENSP00000301452:R191S	ENSP00000301452:R191S	R	-	1	0	ACER1	6258219	1.000000	0.71417	0.923000	0.36655	0.707000	0.40811	3.467000	0.53078	1.347000	0.45714	0.561000	0.74099	CGT		0.542	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		T	6307219	G	T	6307219	3	4	654	1	0	0	0	0	1	0	0	0	138	1116	39	4	231	4	ACER1	19	6307219	Missense_Mutation	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10		6307219	52821764	31	35576											
ZNF529	57711	hgsc.bcm.edu	37	19	37038841	37038841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr19:37038841delT	ENST00000591340.1	-	5	777	c.619delA	c.(619-621)accfs	p.T207fs	ZNF529_ENST00000334116.7_Frame_Shift_Del_p.T102fs	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					ATCCCAAAGGTTTTCCAACAT	0.313																																																0													77	71	73					19																	37038841		1844	4087	5931	SO:0001589	frameshift_variant	57711			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"Zinc fingers, C2H2-type", "-"	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.619delA	chr19.hg19:g.37038841delT	ENSP00000465578:p.Thr207fs		K7EKE1|Q9H731|Q9HCF7	Frame_Shift_Del	DEL	ENST00000591340.1	hg19	CCDS54256.1																																																																																				0.313	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		-	37038841	T	-	37038841	7	5	654	1	0	1	0	1	0	0	0	0	17975	1725	60	0	1076	0	ZNF529	19	37038841	Frame_Shift_Del	DEL	T	TCGA-G7-A4TM-01A-11D-A31X-10	30731622	37038841	22090142	32	35577											
CAPN12	147968	hgsc.bcm.edu	37	19	39226808	39226808	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr19:39226808C>T	ENST00000328867.4	-	12	1833	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.A360T	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	509	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCGTCGCCGGCGTGGGCGGTG	0.731																																																0													5	7	6					19																	39226808		1560	2860	4420	SO:0001583	missense	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1525G>A	chr19.hg19:g.39226808C>T	ENSP00000331636:p.Ala509Thr			Missense_Mutation	SNP	ENST00000328867.4	hg19	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434611	0.43224	.	.	ENSG00000182472	ENST00000328867	D	0.87256	-2.23	3.72	2.48	0.30137	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.544531	0.18591	N	0.136731	T	0.80909	0.4714	L	0.55990	1.75	0.22266	N	0.999247	B	0.19331	0.035	B	0.12156	0.007	T	0.72204	-0.4361	10	0.87932	D	0	.	3.9299	0.09279	0.0:0.5899:0.2287:0.1814	.	509	Q6ZSI9	CAN12_HUMAN	T	509	ENSP00000331636:A509T	ENSP00000331636:A509T	A	-	1	0	CAPN12	43918648	0.987000	0.35691	0.077000	0.20336	0.396000	0.30629	2.272000	0.43373	0.658000	0.30925	0.484000	0.47621	GCC		0.731	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			T	39226808	C	T	39226808	3	4	654	1	0	0	0	0	1	0	0	0	2627	768	27	1	674	1	CAPN12	19	39226808	Missense_Mutation	SNP	C	TCGA-G7-A4TM-01A-11D-A31X-10	2187967	39226808	19902175	33	35578											
CIC	23152	hgsc.bcm.edu	37	19	42795850	42795850	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr19:42795850C>T	ENST00000575354.2	+	11	2879	c.2839C>T	c.(2839-2841)Ccg>Tcg	p.P947S	CIC_ENST00000160740.3_Missense_Mutation_p.P947S|CIC_ENST00000572681.2_Missense_Mutation_p.P1856S	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	947	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACTGGTGAGCCCGCCCTTCTC	0.662			"Mis, F, S"		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													46	52	50					19																	42795850		2048	4111	6159	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2839C>T	chr19.hg19:g.42795850C>T	ENSP00000458663:p.Pro947Ser		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	hg19	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109082	0.20714	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.32	3.28	0.37604	.	.	.	.	.	T	0.44138	0.1279	L	0.29908	0.895	0.35299	D	0.782869	B	0.13145	0.007	B	0.12156	0.007	T	0.52200	-0.8607	8	0.87932	D	0	-7.0964	9.1066	0.36701	0.0:0.8892:0.0:0.1108	.	947	Q96RK0	CIC_HUMAN	S	947	.	ENSP00000160740:P947S	P	+	1	0	CIC	47487690	1.000000	0.71417	0.980000	0.43619	0.928000	0.56348	3.631000	0.54280	1.014000	0.39417	0.462000	0.41574	CCG		0.662	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			T	42795850	C	T	42795850	3	4	654	1	0	0	0	0	1	0	0	0	3426	623	22	2	2881	2	CIC	19	42795850	Missense_Mutation	SNP	C	TCGA-G7-A4TM-01A-11D-A31X-10	3569042	42795850	16333133	34	35579											
ARFGEF2	10564	hgsc.bcm.edu	37	20	47587774	47587774	+	Silent	SNP	C	C	G			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr20:47587774C>G	ENST00000371917.4	+	10	1308	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	436					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGCAATATCTCTGTGTGGCCT	0.458																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													213	185	195					20																	47587774		2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1308C>G	chr20.hg19:g.47587774C>G			Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	hg19	CCDS13411.1																																																																																				0.458	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		G	47587774	C	G	47587774	2	3	654	1	0	0	0	0	0	0	0	1	853	900	32	4		4	ARFGEF2	20	47587774	Silent	SNP	C	TCGA-G7-A4TM-01A-11D-A31X-10		47587774	15437746	35	35580											
NCAM2	4685	hgsc.bcm.edu	37	21	22710734	22710734	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chr21:22710734A>C	ENST00000400546.1	+	8	1173	c.924A>C	c.(922-924)aaA>aaC	p.K308N	NCAM2_ENST00000535285.1_Missense_Mutation_p.K333N|NCAM2_ENST00000284894.7_Missense_Mutation_p.K166N	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	308	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TACAGCTTAAAAATGAAACTA	0.388																																																0													59	58	59					21																	22710734		1859	4085	5944	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.924A>C	chr21.hg19:g.22710734A>C	ENSP00000383392:p.Lys308Asn		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	hg19	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936147	0.52972	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.69685	-0.42;-0.42;-0.42	5.8	3.37	0.38596	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.276736	0.45867	D	0.000323	T	0.67382	0.2887	L	0.39245	1.2	0.53688	D	0.999977	D;P;P	0.55800	0.973;0.776;0.618	P;P;B	0.56474	0.799;0.558;0.374	T	0.64761	-0.6331	10	0.49607	T	0.09	-16.2371	9.6438	0.39855	0.8549:0.0:0.1451:0.0	.	333;166;308	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	N	308;166;333	ENSP00000383392:K308N;ENSP00000284894:K166N;ENSP00000441887:K333N	ENSP00000284894:K166N	K	+	3	2	NCAM2	21632605	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	2.518000	0.45537	0.426000	0.26116	0.482000	0.46254	AAA		0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		C	22710734	A	C	22710734	3	2	654	1	0	0	0	0	1	0	0	0	10205	11	1	5	954	5	NCAM2	21	22710734	Missense_Mutation	SNP	A	TCGA-G7-A4TM-01A-11D-A31X-10		22710734	25419161	36	35581											
BCOR	54880	hgsc.bcm.edu	37	X	39916463	39916463	+	Nonsense_Mutation	SNP	G	G	A	rs199676230		TCGA-G7-A4TM-01A-11D-A31X-10	TCGA-G7-A4TM-10B-01D-A31X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	d7e8ac41-c79b-4372-92d4-4df7a9fdcdb7	e79e18b2-3037-4c27-bbeb-21d6df3720fb	g.chrX:39916463G>A	ENST00000378444.4	-	11	4768	c.4540C>T	c.(4540-4542)Cga>Tga	p.R1514*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.R1480*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.R1462*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.R1480*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.R357*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1514					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGGAGGTGTCGCACAATGTTG	0.512			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													154	104	121					X																	39916463		2202	4300	6502	SO:0001587	stop_gained	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4540C>T	chrX.hg19:g.39916463G>A	ENSP00000367705:p.Arg1514*		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	hg19	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	46	12.577683	0.99679	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	.	.	.	5.46	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8224	10.3036	0.43667	0.0:0.2697:0.5875:0.1428	.	.	.	.	X	384;357;1462;1480;1514;1480;187	.	ENSP00000345923:R1480X	R	-	1	2	BCOR	39801407	1.000000	0.71417	0.702000	0.30337	0.988000	0.76386	4.473000	0.60196	0.479000	0.27511	0.600000	0.82982	CGA		0.512	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		A	39916463	G	A	39916463	4	1	654	1	0	0	0	0	0	1	0	0	1386	1095	38	1	747	1	BCOR	23	39916463	Nonsense_Mutation	SNP	G	TCGA-G7-A4TM-01A-11D-A31X-10		39916463	115354097	37	35582											
TRIM63	84676	hgsc.bcm.edu	37	1	26392820	26392820	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr1:26392820C>T	ENST00000374272.3	-	2	409	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	91	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGCAGGCCGTACACTCCG	0.632																																																0													115	85	95					1																	26392820		2203	4300	6503	SO:0001583	missense	84676			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	16007	protein-coding gene	gene with protein product	"muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein"	606131	"ring finger protein 28", "tripartite motif-containing 63", "tripartite motif containing 63"	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.271G>A	chr1.hg19:g.26392820C>T	ENSP00000363390:p.Gly91Ser		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	hg19	CCDS273.1	.	.	.	.	.	.	.	.	.	.	C	36	5.648865	0.96714	.	.	ENSG00000158022	ENST00000374272	T	0.28454	1.61	5.64	5.64	0.86602	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	M	0.73430	2.235	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.56823	-0.7915	10	0.54805	T	0.06	.	19.3141	0.94204	0.0:1.0:0.0:0.0	.	91	Q969Q1	TRI63_HUMAN	S	91	ENSP00000363390:G91S	ENSP00000363390:G91S	G	-	1	0	TRIM63	26265407	1.000000	0.71417	0.966000	0.40874	0.852000	0.48524	7.811000	0.86092	2.655000	0.90218	0.655000	0.94253	GGC		0.632	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		T	26392820	C	T	26392820	3	4	655	1	0	0	0	0	1	0	0	0	16543	652	23	1	822	1	TRIM63	1	26392820	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10		26392820	222857801	1	35583											
ATXN7L2	127002	hgsc.bcm.edu	37	1	110031587	110031587	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr1:110031587G>A	ENST00000369870.3	+	7	917	c.902G>A	c.(901-903)gGg>gAg	p.G301E		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	301										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAGAGCCCAGGGCGCAAGGAG	0.647																																																0													43	43	43					1																	110031587		2203	4300	6503	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.902G>A	chr1.hg19:g.110031587G>A	ENSP00000358886:p.Gly301Glu			Missense_Mutation	SNP	ENST00000369870.3	hg19	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594207	0.28445	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.27890	1.64	5.97	3.96	0.45880	.	0.326224	0.26875	N	0.022059	T	0.07908	0.0198	L	0.36672	1.1	0.80722	D	1	P	0.38250	0.624	B	0.37267	0.245	T	0.06023	-1.0850	10	0.02654	T	1	-9.0894	9.0628	0.36444	0.0:0.3133:0.535:0.1516	.	301	Q5T6C5	AT7L2_HUMAN	E	301	ENSP00000358886:G301E	ENSP00000358886:G301E	G	+	2	0	ATXN7L2	109833110	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.864000	0.27926	1.496000	0.48567	0.655000	0.94253	GGG		0.647	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		A	110031587	G	A	110031587	3	1	655	1	0	0	0	0	1	0	0	0	1217	1232	43	2	928	2	ATXN7L2	1	110031587	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	83638767	110031587	139219034	2	35584											
BAT2L2	23215	hgsc.bcm.edu	37	1	171501480	171501480	+	Splice_Site	SNP	A	A	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr1:171501480A>G	ENST00000338920.4	+	12	1485		c.e12-1		PRRC2C_ENST00000426496.2_Splice_Site|PRRC2C_ENST00000367742.3_Splice_Site|PRRC2C_ENST00000476522.1_Splice_Site|PRRC2C_ENST00000392078.3_Splice_Site	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C						hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TTAATGTTTCAGCATCCACCT	0.438																																																0													40	38	39					1																	171501480		2203	4300	6503	SO:0001630	splice_region_variant	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1249-1A>G	chr1.hg19:g.171501480A>G			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Splice_Site	SNP	ENST00000338920.4	hg19	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026744	0.75390	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRRC2C	169768104	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.321000	0.72881	2.308000	0.77769	0.533000	0.62120	.		0.438	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	Intron	G	171501480	A	G	171501480	5	3	655	1	0	0	0	0	0	0	1	0	1321	202	7	3	1289	3	BAT2L2	1	171501480	Splice_Site	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	61469893	171501480	77749141	3	35585											
CFHR2	3080	hgsc.bcm.edu	37	1	196927093	196927093	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr1:196927093A>G	ENST00000367415.5	+	4	603	c.503A>G	c.(502-504)tAt>tGt	p.Y168C	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.Y168C|CFHR2_ENST00000476712.2_Missense_Mutation_p.Y152C	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	168	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TTGTCAGTATATGCTCCAGGT	0.408																																																0													170	154	160					1																	196927093		2203	4300	6503	SO:0001583	missense	3080			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.503A>G	chr1.hg19:g.196927093A>G	ENSP00000356385:p.Tyr168Cys		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	hg19	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	12.53	1.965546	0.34659	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.69926	-0.44;-0.44	4.25	3.09	0.35607	Complement control module (2);Sushi/SCR/CCP (3);	0.922642	0.08792	N	0.893138	D	0.88683	0.6503	H	0.99299	4.505	0.09310	N	1	D	0.89917	1.0	D	0.71656	0.974	T	0.73046	-0.4106	10	0.87932	D	0	.	8.9845	0.35986	0.8122:0.1878:0.0:0.0	.	168	P36980	FHR2_HUMAN	C	168	ENSP00000356391:Y168C;ENSP00000356385:Y168C	ENSP00000356385:Y168C	Y	+	2	0	CFHR2	195193716	0.931000	0.31567	0.003000	0.11579	0.004000	0.04260	5.025000	0.64097	0.465000	0.27167	-0.604000	0.04097	TAT		0.408	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		G	196927093	A	G	196927093	3	3	655	1	0	0	0	0	1	0	0	0	3287	449	16	3	517	3	CFHR2	1	196927093	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	25425613	196927093	52323528	4	35586											
ZNF238	10472	hgsc.bcm.edu	37	1	244218407	244218407	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr1:244218407A>G	ENST00000358704.4	+	2	1480	c.1331A>G	c.(1330-1332)gAg>gGg	p.E444G		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	435					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CACTCGGGGGAGAAGCCCTAC	0.632																																																0													69	71	70					1																	244218407		2203	4300	6503	SO:0001583	missense	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1331A>G	chr1.hg19:g.244218407A>G	ENSP00000351539:p.Glu444Gly		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	hg19	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.386591	0.61956	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.27557	1.66	5.68	5.68	0.88126	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.79108	0.992;0.986	T	0.59789	-0.7388	10	0.87932	D	0	.	15.9354	0.79698	1.0:0.0:0.0:0.0	.	435;444	Q99592;Q99592-2	ZN238_HUMAN;.	G	444	ENSP00000351539:E444G	ENSP00000351539:E444G	E	+	2	0	ZNF238	242285030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.182000	0.69389	0.533000	0.62120	GAG		0.632	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		G	244218407	A	G	244218407	3	3	655	1	0	0	0	0	1	0	0	0	17795	304	11	3	1337	3	ZNF238	1	244218407	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	47291314	244218407	5032214	5	35587											
ATAD2B	54454	hgsc.bcm.edu	37	2	24086371	24086371	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr2:24086371delT	ENST00000238789.5	-	12	1702	c.1359delA	c.(1357-1359)gcafs	p.A453fs		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	453						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTAGCTAATGCTCTGGCAA	0.398																																																0													34	32	33					2																	24086371		1837	4089	5926	SO:0001589	frameshift_variant	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1359delA	chr2.hg19:g.24086371delT	ENSP00000238789:p.Ala453fs		B9ZVQ5|Q6ZNA6|Q8N9E7	Frame_Shift_Del	DEL	ENST00000238789.5	hg19	CCDS46227.1																																																																																				0.398	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		-	24086371	T	-	24086371	7	5	655	1	0	1	0	1	0	0	0	0	1072	1451	51	0	3085	0	ATAD2B	2	24086371	Frame_Shift_Del	DEL	T	TCGA-G7-A8LB-01A-11D-A35Z-10		24086371	219113002	6	35588											
MSH2	4436	hgsc.bcm.edu	37	2	47693891	47693892	+	Frame_Shift_Ins	INS	-	-	A	rs63750510|rs587779098		TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr2:47693891_47693892insA	ENST00000233146.2	+	10	1828_1829	c.1605_1606insA	c.(1606-1608)aatfs	p.N536fs	MSH2_ENST00000406134.1_Frame_Shift_Ins_p.N536fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.N470fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	536					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCTTCGTAACAATAAAAACTT	0.347			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)																																								SO:0001589	frameshift_variant	4436	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	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1607dupA	chr2.hg19:g.47693893_47693893dupA	ENSP00000233146:p.Asn536fs		B4E2Z2|O75488	Frame_Shift_Ins	INS	ENST00000233146.2	hg19	CCDS1834.1																																																																																				0.347	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			A	47693892	-	A	47693891	7	5	655	1	0	1	1	0	0	0	0	0	9872	477	17	0	1643	0	MSH2	2	47693891	Frame_Shift_Ins	INS	-	TCGA-G7-A8LB-01A-11D-A35Z-10	23607520	47693891	195505482	7	35589											
RMND5A	64795	hgsc.bcm.edu	37	2	86968117	86968117	+	Silent	SNP	T	T	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr2:86968117T>C	ENST00000283632.4	+	2	705	c.210T>C	c.(208-210)gaT>gaC	p.D70D		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	70										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GAATAAAGGATACTGTTCAAA	0.388																																																0													98	92	94					2																	86968117		2201	4297	6498	SO:0001819	synonymous_variant	64795			BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog A"					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.210T>C	chr2.hg19:g.86968117T>C			D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Silent	SNP	ENST00000283632.4	hg19	CCDS1991.1																																																																																				0.388	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		C	86968117	T	C	86968117	2	2	655	1	0	0	0	0	0	0	0	1	13403	1403	49	3		3	RMND5A	2	86968117	Silent	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10	39274226	86968117	156231256	8	35590											
BAZ2B	29994	hgsc.bcm.edu	37	2	160295123	160295123	+	Silent	SNP	T	T	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr2:160295123T>A	ENST00000392783.2	-	8	1479	c.984A>T	c.(982-984)ccA>ccT	p.P328P	BAZ2B_ENST00000392782.1_Silent_p.P326P|BAZ2B_ENST00000355831.2_Silent_p.P328P|BAZ2B_ENST00000343439.5_Silent_p.P326P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAAGAGGTAATGGCTGGTGTA	0.423																																																0													184	184	184					2																	160295123		1845	4101	5946	SO:0001819	synonymous_variant	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.984A>T	chr2.hg19:g.160295123T>A			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	hg19	CCDS2209.2																																																																																				0.423	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			A	160295123	T	A	160295123	2	1	655	1	0	0	0	0	0	0	0	1	1332	1451	51	5		5	BAZ2B	2	160295123	Silent	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10	73327006	160295123	82904250	9	35591											
TTC21B	79809	hgsc.bcm.edu	37	2	166785751	166785751	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr2:166785751A>C	ENST00000243344.7	-	11	1417	c.1280T>G	c.(1279-1281)tTt>tGt	p.F427C		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	427					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TAATTGTGAAAAGTGAGTGTC	0.328																																																0													68	71	70					2																	166785751		2202	4299	6501	SO:0001583	missense	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1280T>G	chr2.hg19:g.166785751A>C	ENSP00000243344:p.Phe427Cys		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	hg19	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	a	17.10	3.304208	0.60305	.	.	ENSG00000123607	ENST00000243344	T	0.62498	0.02	5.38	5.38	0.77491	.	0.095949	0.64402	D	0.000001	T	0.79969	0.4538	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.68192	0.956;0.798	T	0.82796	-0.0280	10	0.59425	D	0.04	-10.2853	15.6905	0.77446	1.0:0.0:0.0:0.0	.	427;427	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	C	427	ENSP00000243344:F427C	ENSP00000243344:F427C	F	-	2	0	TTC21B	166493997	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	8.881000	0.92415	2.170000	0.68504	0.529000	0.55759	TTT		0.328	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		C	166785751	A	C	166785751	3	2	655	1	0	0	0	0	1	0	0	0	16693	14	1	5	2746	5	TTC21B	2	166785751	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	6490628	166785751	76413622	10	35592											
TTN	7273	hgsc.bcm.edu	37	2	179476842	179476842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr2:179476842G>A	ENST00000591111.1	-	217	45597	c.45373C>T	c.(45373-45375)Cga>Tga	p.R15125*	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R16766*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*			Q8WZ42	TITIN_HUMAN	titin	15125	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACATGTCGTTTTGTCACA	0.403																																																0													106	94	98					2																	179476842		1874	4098	5972	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45373C>T	chr2.hg19:g.179476842G>A	ENSP00000465570:p.Arg15125*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	G	59	37.731312	0.99984	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.17	0.537	0.17144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.6047	0.45388	0.0:0.1944:0.2015:0.604	.	.	.	.	X	14198;7701;7893;7826;7701	.	ENSP00000340554:R7893X	R	-	1	2	TTN	179185087	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	1.702000	0.37836	0.136000	0.18733	0.655000	0.94253	CGA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		A	179476842	G	A	179476842	4	1	655	1	0	0	0	0	0	1	0	0	16740	1153	40	1	57781	1	TTN	2	179476842	Nonsense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	12691091	179476842	63722531	11	35593											
PID1	55022	hgsc.bcm.edu	37	2	230127427	230127427	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr2:230127427A>G	ENST00000392054.3	-	2	434	c.95T>C	c.(94-96)tTa>tCa	p.L32S	PID1_ENST00000392055.3_Intron|PID1_ENST00000409462.1_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	0					cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		tccaaaatgtaaaggttggca	0.448																																																0													154	158	156					2																	230127427		1327	2309	3636	SO:0001583	missense	55022			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000392054.3:c.95T>C	chr2.hg19:g.230127427A>G	ENSP00000375907:p.Leu32Ser		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000392054.3	hg19	CCDS2471.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951464	0.34471	.	.	ENSG00000153823	ENST00000392054	.	.	.	2.79	1.6	0.23607	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.09310	N	1	B	0.29301	0.241	B	0.29440	0.102	T	0.21518	-1.0243	6	.	.	.	.	5.1959	0.15236	0.7417:0.0:0.0:0.2583	.	32	Q7Z2X4-2	.	S	32	.	.	L	-	2	0	PID1	229835671	0.008000	0.16893	0.001000	0.08648	0.001000	0.01503	0.637000	0.24659	0.484000	0.27630	0.379000	0.24179	TTA		0.448	PID1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331809.1	NM_017933		G	230127427	A	G	230127427	3	3	655	1	0	0	0	0	1	0	0	0	11884	372	13	3	663	3	PID1	2	230127427	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	50650585	230127427	13071946	12	35594											
PLCD1	5333	hgsc.bcm.edu	37	3	38070995	38071000	+	Splice_Site	DEL	TCACCG	TCACCG	-	rs373017252		TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	TCACCG	TCACCG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr3:38070995_38071000delTCACCG	ENST00000334661.4	-	1	253_257	c.31_35delCGGTGA	c.(31-36)cggtga>a	p.R*11del		NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	11					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCAGGCACTCACCGTGCAGGGTCAGG	0.743																																																0																																										SO:0001630	splice_region_variant	5333				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.34+1CGGTGA>-	chr3.hg19:g.38070995_38071000delTCACCG			B3KR14|Q86VN8	Frame_Shift_Del	DEL	ENST00000334661.4	hg19	CCDS2671.1																																																																																				0.743	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2		In_Frame_Del	-	38071000	TCACCG	-	38070995	8	5	655	1	0	1	0	1	0	0	1	0	12033	173	6	0	2395	0	PLCD1	3	38070995	Splice_Site	DEL	TCACCG	TCGA-G7-A8LB-01A-11D-A35Z-10		38070995	159951435	13	35595											
SLC26A6	65010	hgsc.bcm.edu	37	3	48664425	48664425	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr3:48664425G>T	ENST00000395550.2	-	18	2004	c.1957C>A	c.(1957-1959)Cca>Aca	p.P653T	SLC26A6_ENST00000420764.2_Missense_Mutation_p.P652T|SLC26A6_ENST00000455886.2_Missense_Mutation_p.P617T|SLC26A6_ENST00000383733.3_Missense_Mutation_p.P634T|SLC26A6_ENST00000337000.8_Missense_Mutation_p.P545T|SLC26A6_ENST00000358747.6_Missense_Mutation_p.P632T			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	653	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GACCCATCTGGGGCCTTGGAG	0.597																																					NSCLC(13;369 479 28271 30152 44026)											0													110	117	114					3																	48664425		2002	4171	6173	SO:0001583	missense	65010			AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1957C>A	chr3.hg19:g.48664425G>T	ENSP00000378920:p.Pro653Thr		B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	hg19	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247190	0.59103	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	D;D;D;D;D;D	0.93366	-3.03;-3.04;-3.12;-3.05;-3.03;-3.21	4.95	2.18	0.27775	Sulphate transporter/antisigma-factor antagonist STAS (3);	.	.	.	.	D	0.84813	0.5555	N	0.08118	0	0.18873	N	0.999989	P;B;P;B;P;B;B	0.43024	0.687;0.166;0.798;0.01;0.629;0.143;0.096	B;B;P;B;B;B;B	0.46299	0.439;0.138;0.511;0.015;0.446;0.142;0.089	T	0.75396	-0.3332	9	0.07030	T	0.85	.	8.6099	0.33795	0.3:0.0:0.7:0.0	.	617;647;545;634;652;653;4039	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	T	652;653;634;545;647;632;617	ENSP00000404684:P652T;ENSP00000378920:P653T;ENSP00000373239:P634T;ENSP00000337648:P545T;ENSP00000351597:P632T;ENSP00000401066:P617T	ENSP00000337648:P545T	P	-	1	0	SLC26A6	48639429	0.629000	0.27146	0.606000	0.28943	0.890000	0.51754	0.329000	0.19698	0.234000	0.21139	0.491000	0.48974	CCA		0.597	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		T	48664425	G	T	48664425	3	4	655	1	0	0	0	0	1	0	0	0	14527	1232	43	4	338	4	SLC26A6	3	48664425	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	10593430	48664425	149358005	14	35596											
SEMA3F	6405	hgsc.bcm.edu	37	3	50214250	50214250	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr3:50214250A>T	ENST00000002829.3	+	7	1083	c.599A>T	c.(598-600)aAg>aTg	p.K200M	SEMA3F_ENST00000413852.1_Missense_Mutation_p.K101M|SEMA3F_ENST00000434342.1_Missense_Mutation_p.K169M	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	200	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GGGAAGGGCAAGTGTCCGTAC	0.617																																																0													170	142	152					3																	50214250		2203	4300	6503	SO:0001583	missense	6405			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.599A>T	chr3.hg19:g.50214250A>T	ENSP00000002829:p.Lys200Met		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	hg19	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	A	31	5.066774	0.93898	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000413852;ENST00000002829;ENST00000434342;ENST00000420831	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.141423	0.64402	D	0.000006	T	0.39911	0.1096	M	0.78801	2.425	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.31833	-0.9929	10	0.87932	D	0	.	15.4628	0.75373	1.0:0.0:0.0:0.0	.	169;200	C9JQ85;Q13275	.;SEM3F_HUMAN	M	169;169;101;200;169;133	ENSP00000392588:K169M;ENSP00000398399:K169M;ENSP00000388931:K101M;ENSP00000002829:K200M;ENSP00000409859:K169M;ENSP00000416356:K133M	ENSP00000002829:K200M	K	+	2	0	SEMA3F	50189254	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.120000	0.77153	2.190000	0.69967	0.459000	0.35465	AAG		0.617	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		T	50214250	A	T	50214250	3	4	655	1	0	0	0	0	1	0	0	0	14035	72	3	5	621	5	SEMA3F	3	50214250	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	1549825	50214250	147808180	15	35597											
CACNA2D3	55799	hgsc.bcm.edu	37	3	55018690	55018690	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr3:55018690A>G	ENST00000474759.1	+	30	2660	c.2612A>G	c.(2611-2613)tAc>tGc	p.Y871C	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.Y871C|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.Y871C|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.Y777C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	871						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TCTGAAGACTACACACAGGTG	0.343																																																0													61	58	59					3																	55018690		1823	4082	5905	SO:0001583	missense	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2612A>G	chr3.hg19:g.55018690A>G	ENSP00000419101:p.Tyr871Cys		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	hg19	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316289	0.60524	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.95	5.95	0.96441	.	0.355700	0.30639	N	0.009197	T	0.67392	0.2888	L	0.27053	0.805	0.38988	D	0.95908	P	0.43477	0.808	P	0.48873	0.593	T	0.69442	-0.5144	10	0.38643	T	0.18	.	14.9948	0.71421	1.0:0.0:0.0:0.0	.	871	Q8IZS8	CA2D3_HUMAN	C	871;871;871;777;777	ENSP00000389506:Y871C;ENSP00000419101:Y871C;ENSP00000288197:Y871C;ENSP00000417279:Y777C	ENSP00000288197:Y871C	Y	+	2	0	CACNA2D3	54993730	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.801000	0.55545	2.279000	0.76181	0.533000	0.62120	TAC		0.343	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			G	55018690	A	G	55018690	3	3	655	1	0	0	0	0	1	0	0	0	2552	391	14	3	2730	3	CACNA2D3	3	55018690	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	4804440	55018690	143003740	16	35598											
GTPBP8	29083	hgsc.bcm.edu	37	3	112709865	112709865	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr3:112709865C>T	ENST00000383678.2	+	1	101	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000473129.1_5'Flank|GTPBP8_ENST00000383677.3_Missense_Mutation_p.R7W|GTPBP8_ENST00000467752.1_5'Flank	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	7					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GCCCGGGCTGCGGCTGGGAGC	0.632																																																0													15	22	20					3																	112709865		2168	4234	6402	SO:0001583	missense	29083			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.19C>T	chr3.hg19:g.112709865C>T	ENSP00000373176:p.Arg7Trp		A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	hg19	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521196	0.64747	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.46819	0.86;0.91	5.85	-0.347	0.12617	.	0.697407	0.13168	N	0.408513	T	0.27313	0.0670	N	0.21583	0.68	0.09310	N	0.999991	B;B	0.11235	0.004;0.003	B;B	0.08055	0.003;0.002	T	0.13656	-1.0501	10	0.41790	T	0.15	0.1747	3.9332	0.09294	0.2516:0.39:0.0:0.3583	.	7;7	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	W	7	ENSP00000373176:R7W;ENSP00000373175:R7W	ENSP00000295864:R7W	R	+	1	2	GTPBP8	114192555	0.000000	0.05858	0.001000	0.08648	0.131000	0.20780	-1.774000	0.01784	-0.108000	0.12066	0.491000	0.48974	CGG		0.632	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		T	112709865	C	T	112709865	3	4	655	1	0	0	0	0	1	0	0	0	6886	759	27	1	21	1	GTPBP8	3	112709865	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	57691175	112709865	85312565	17	35599											
ALDH1L1	10840	hgsc.bcm.edu	37	3	125844500	125844500	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr3:125844500A>G	ENST00000393434.2	-	15	2108	c.1759T>C	c.(1759-1761)Tgc>Cgc	p.C587R	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.C587R|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.C597R|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.C486R|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	587	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCAGCCAGGCAGGCAGCTGTC	0.572																																																0													96	85	88					3																	125844500		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1759T>C	chr3.hg19:g.125844500A>G	ENSP00000377083:p.Cys587Arg		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	hg19	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834548	0.71373	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.5	4.5	0.54988	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	T	0.00797	-1.1562	10	0.87932	D	0	.	11.7788	0.52001	1.0:0.0:0.0:0.0	.	486;587	E9PBX3;O75891	.;AL1L1_HUMAN	R	597;587;486;587	ENSP00000273450:C597R;ENSP00000420293:C587R;ENSP00000395881:C486R;ENSP00000377083:C587R	ENSP00000273450:C597R	C	-	1	0	ALDH1L1	127327190	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.421000	0.90259	1.881000	0.54492	0.482000	0.46254	TGC		0.572	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		G	125844500	A	G	125844500	3	3	655	1	0	0	0	0	1	0	0	0	494	188	7	3	985	3	ALDH1L1	3	125844500	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	13134635	125844500	72177930	18	35600											
SENP2	59343	hgsc.bcm.edu	37	3	185341841	185341841	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr3:185341841G>T	ENST00000296257.5	+	15	1822	c.1582G>T	c.(1582-1584)Gag>Tag	p.E528*	SENP2_ENST00000545472.1_Nonsense_Mutation_p.E518*|SENP2_ENST00000427465.2_Nonsense_Mutation_p.E352*	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	528	Protease.				cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GAATCTTTTAGAGTGGACCCA	0.348																																																0													140	134	136					3																	185341841		2203	4300	6503	SO:0001587	stop_gained	59343			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1582G>T	chr3.hg19:g.185341841G>T	ENSP00000296257:p.Glu528*		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Nonsense_Mutation	SNP	ENST00000296257.5	hg19	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221146	0.79464	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465;ENST00000444509	.	.	.	5.84	5.84	0.93424	.	0.059916	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-29.0982	12.6115	0.56554	0.0:0.0:0.8347:0.1653	.	.	.	.	X	518;528;399;352;191	.	ENSP00000296257:E528X	E	+	1	0	SENP2	186824535	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	5.393000	0.66279	2.767000	0.95098	0.555000	0.69702	GAG		0.348	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		T	185341841	G	T	185341841	4	4	655	1	0	0	0	0	0	1	0	0	14053	943	33	4	1640	4	SENP2	3	185341841	Nonsense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	59497341	185341841	12680589	19	35601											
POLN	353497	hgsc.bcm.edu	37	4	2210096	2210125	+	In_Frame_Del	DEL	GAGCTGATGCTCTTCTGTTTTTGGTCAGCA	GAGCTGATGCTCTTCTGTTTTTGGTCAGCA	-	rs34459048	byFrequency	TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	GAGCTGATGCTCTTCTGTTTTTGGTCAGCA	GAGCTGATGCTCTTCTGTTTTTGGTCAGCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr4:2210096_2210125delGAGCTGATGCTCTTCTGTTTTTGGTCAGCA	ENST00000511885.2	-	5	656_685	c.303_332delTGCTGACCAAAAACAGAAGAGCATCAGCTC	c.(301-333)tctgctgaccaaaaacagaagagcatcagctca>tca	p.101_111SADQKQKSISS>S	POLN_ENST00000382865.1_In_Frame_Del_p.101_111SADQKQKSISS>S|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	101					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AAGAGTCAATGAGCTGATGCTCTTCTGTTTTTGGTCAGCAGACAGCTGAT	0.396								DNA polymerases (catalytic subunits)																																								0																																										SO:0001651	inframe_deletion	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.303_332delTGCTGACCAAAAACAGAAGAGCATCAGCTC	chr4.hg19:g.2210096_2210125delGAGCTGATGCTCTTCTGTTTTTGGTCAGCA	ENSP00000435506:p.Ser101_Ser110del		A2A336|B4E158|Q4TTW4|Q6ZNF4	In_Frame_Del	DEL	ENST00000511885.2	hg19	CCDS3360.1																																																																																				0.396	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		-	2210125	GAGCTGATGCTCTTCTGTTTTTGGTCAGCA	-	2210096	7	5	655	1	0	1	0	1	0	0	0	0	12209	1294	45	0	2458	0	POLN	4	2210096	In_Frame_Del	DEL	GAGCTGATGCTCTTCTGTTTTTGGTCAGCA	TCGA-G7-A8LB-01A-11D-A35Z-10		2210096	188944180	20	35602											
JAKMIP1	152789	hgsc.bcm.edu	37	4	6107649	6107649	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr4:6107649C>T	ENST00000282924.5	-	3	660	c.175G>A	c.(175-177)Gag>Aag	p.E59K	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E59K|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E59K|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	59	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTCCTGCTCGCGCTCCAGC	0.667																																																0													27	27	27					4																	6107649		2164	4259	6423	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.175G>A	chr4.hg19:g.6107649C>T	ENSP00000282924:p.Glu59Lys		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	hg19	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078307	0.94000	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000282924;ENST00000409831	T;T;T	0.35789	1.29;1.29;1.29	3.93	3.93	0.45458	.	0.000000	0.64402	D	0.000007	T	0.60392	0.2265	M	0.79258	2.445	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.92;0.982;0.92	T	0.67818	-0.5572	10	0.87932	D	0	.	15.4753	0.75474	0.0:1.0:0.0:0.0	.	59;59;59	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	K	59	ENSP00000386711:E59K;ENSP00000282924:E59K;ENSP00000386925:E59K	ENSP00000282924:E59K	E	-	1	0	JAKMIP1	6158550	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.172000	0.77604	2.166000	0.68216	0.484000	0.47621	GAG		0.667	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		T	6107649	C	T	6107649	3	4	655	1	0	0	0	0	1	0	0	0	7942	893	31	1	2471	1	JAKMIP1	4	6107649	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	3897553	6107649	185046627	21	35603											
WDR19	57728	hgsc.bcm.edu	37	4	39191388	39191388	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr4:39191388G>C	ENST00000399820.3	+	4	431	c.277G>C	c.(277-279)Gac>Cac	p.D93H	WDR19_ENST00000506503.1_Missense_Mutation_p.D93H|WDR19_ENST00000288634.7_5'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	93					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						CAGCCAGTTAGACAATGGCAT	0.353																																																0													108	102	104					4																	39191388		1835	4094	5929	SO:0001583	missense	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.277G>C	chr4.hg19:g.39191388G>C	ENSP00000382717:p.Asp93His		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	hg19	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522217	0.85600	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000506503;ENST00000399836	T;T;T	0.28069	3.43;1.63;3.43	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.124661	0.64402	D	0.000001	T	0.59445	0.2194	M	0.83118	2.625	0.80722	D	1	D;D	0.61697	0.99;0.989	P;P	0.62382	0.897;0.901	T	0.59343	-0.7472	10	0.49607	T	0.09	-25.4728	20.3593	0.98849	0.0:0.0:1.0:0.0	.	93;93	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	H	93;34;93;92	ENSP00000382717:D93H;ENSP00000426918:D34H;ENSP00000423491:D93H	ENSP00000382717:D93H	D	+	1	0	WDR19	38867783	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.397000	0.97276	2.822000	0.97130	0.557000	0.71058	GAC		0.353	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			C	39191388	G	C	39191388	3	2	655	1	0	0	0	0	1	0	0	0	17284	942	33	4	291	4	WDR19	4	39191388	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	33083739	39191388	151962888	22	35604											
KIAA1211	57482	hgsc.bcm.edu	37	4	57182299	57182299	+	Silent	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr4:57182299C>T	ENST00000504228.1	+	6	2736	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D	KIAA1211_ENST00000264229.6_Silent_p.D877D|KIAA1211_ENST00000541073.1_Silent_p.D870D			Q6ZU35	K1211_HUMAN	KIAA1211	877										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCACCGGAGACAGCGCGGATG	0.577																																																0													39	48	45					4																	57182299		2186	4290	6476	SO:0001819	synonymous_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2631C>T	chr4.hg19:g.57182299C>T			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	hg19	CCDS43230.1																																																																																				0.577	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		T	57182299	C	T	57182299	2	4	655	1	0	0	0	0	0	0	0	1	8217	477	17	2		2	KIAA1211	4	57182299	Silent	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	17990911	57182299	133971977	23	35605											
CNOT6L	246175	hgsc.bcm.edu	37	4	78665898	78665898	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr4:78665898A>G	ENST00000504123.1	-	7	821	c.691T>C	c.(691-693)Tgt>Cgt	p.C231R	CNOT6L_ENST00000506166.1_Intron|CNOT6L_ENST00000264903.4_Missense_Mutation_p.C231R			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	231	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TCTGCGTCACAGTTAACAATT	0.383																																																0													67	61	63					4																	78665898		1872	4120	5992	SO:0001583	missense	246175			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.691T>C	chr4.hg19:g.78665898A>G	ENSP00000424896:p.Cys231Arg		Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.99|17.99	3.523382|3.523382	0.64747|0.64747	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485|ENST00000515506	T;T;T|.	0.79940|.	-1.32;-1.32;-1.32|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Endonuclease/exonuclease/phosphatase (2);|.	0.089945|.	0.85682|.	D|.	0.000000|.	T|T	0.39009|0.39009	0.1062|0.1062	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P;B|.	0.40875|.	0.731;0.05|.	B;B|.	0.42692|.	0.395;0.125|.	T|T	0.32134|0.32134	-0.9918|-0.9918	10|5	0.33940|.	T|.	0.23|.	-18.9235|-18.9235	15.2936|15.2936	0.73885|0.73885	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	204;231|.	Q96LI5-2;Q96LI5|.	.;CNO6L_HUMAN|.	R|P	231;231;238|259	ENSP00000424896:C231R;ENSP00000264903:C231R;ENSP00000425571:C238R|.	ENSP00000264903:C231R|.	C|L	-|-	1|2	0|0	CNOT6L|CNOT6L	78884922|78884922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.445000|7.445000	0.80570|0.80570	2.089000|2.089000	0.63090|0.63090	0.533000|0.533000	0.62120|0.62120	TGT|CTG		0.383	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			G	78665898	A	G	78665898	3	3	655	1	0	0	0	0	1	0	0	0	3625	188	7	3	1000	3	CNOT6L	4	78665898	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	21483599	78665898	112488378	24	35606											
C4orf29	80167	hgsc.bcm.edu	37	4	128930118	128930118	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr4:128930118C>G	ENST00000444616.1	+	5	569	c.322C>G	c.(322-324)Cct>Gct	p.P108A	C4orf29_ENST00000388795.5_Missense_Mutation_p.P26A|C4orf29_ENST00000398965.1_Missense_Mutation_p.P108A			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	108						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CAAATATAGACCTGTATGCAT	0.294																																																0													80	74	76					4																	128930118		1836	4092	5928	SO:0001583	missense	80167			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.322C>G	chr4.hg19:g.128930118C>G	ENSP00000397229:p.Pro108Ala		A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.98	3.521110	0.64747	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75502	-0.3295	9	0.33940	T	0.23	-28.3825	18.8831	0.92364	0.0:1.0:0.0:0.0	.	108	Q0P651	CD029_HUMAN	A	108;108;108;26;26	.	ENSP00000373447:P26A	P	+	1	0	C4orf29	129149568	1.000000	0.71417	0.621000	0.29145	0.249000	0.25844	7.215000	0.77966	2.521000	0.84997	0.650000	0.86243	CCT		0.294	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		G	128930118	C	G	128930118	3	3	655	1	0	0	0	0	1	0	0	0	2261	507	18	4	336	4	C4orf29	4	128930118	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	50264220	128930118	62224158	25	35607											
ZNF366	167465	hgsc.bcm.edu	37	5	71739912	71739912	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr5:71739912C>T	ENST00000318442.5	-	5	2396	c.1906G>A	c.(1906-1908)Gcc>Acc	p.A636T	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	636	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTCTGGGGGGCCAGGCCAGGG	0.652																																																0													104	119	114					5																	71739912		2203	4300	6503	SO:0001583	missense	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1906G>A	chr5.hg19:g.71739912C>T	ENSP00000313158:p.Ala636Thr		Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	hg19	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.997047	0.35226	.	.	ENSG00000178175	ENST00000318442	T	0.08546	3.08	5.77	1.25	0.21368	.	1.473160	0.03691	N	0.247014	T	0.05502	0.0145	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39035	-0.9633	10	0.25751	T	0.34	-1.5524	1.3046	0.02085	0.2362:0.3835:0.2159:0.1644	.	636	Q8N895	ZN366_HUMAN	T	636	ENSP00000313158:A636T	ENSP00000313158:A636T	A	-	1	0	ZNF366	71775668	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.858000	0.27845	0.421000	0.25980	-0.176000	0.13171	GCC		0.652	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			T	71739912	C	T	71739912	3	4	655	1	0	0	0	0	1	0	0	0	17875	739	26	2	332	2	ZNF366	5	71739912	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10		71739912	109175348	26	35608											
HMGCR	3156	hgsc.bcm.edu	37	5	74643113	74643113	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr5:74643113A>G	ENST00000287936.4	+	6	691	c.535A>G	c.(535-537)Att>Gtt	p.I179V	HMGCR_ENST00000343975.5_Missense_Mutation_p.I179V|HMGCR_ENST00000511206.1_Missense_Mutation_p.I179V	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	179	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	ATGTCTTGTGATTGGAGTTGG	0.358																																																0													310	283	292					5																	74643113		2203	4300	6503	SO:0001583	missense	3156				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.535A>G	chr5.hg19:g.74643113A>G	ENSP00000287936:p.Ile179Val		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	hg19	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775303	0.70107	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	D;D;D	0.95690	-3.78;-3.78;-3.78	5.33	5.33	0.75918	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.96605	0.8892	L	0.55017	1.72	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.87578	0.998;0.996;0.997;0.998	D	0.95694	0.8743	10	0.29301	T	0.29	-25.0512	14.959	0.71141	1.0:0.0:0.0:0.0	.	179;179;179;179	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	V	179;110;179;179	ENSP00000426745:I179V;ENSP00000287936:I179V;ENSP00000340816:I179V	ENSP00000287936:I179V	I	+	1	0	HMGCR	74678869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.244000	0.95423	1.990000	0.58119	0.528000	0.53228	ATT		0.358	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			G	74643113	A	G	74643113	3	3	655	1	0	0	0	0	1	0	0	0	7233	333	12	3	553	3	HMGCR	5	74643113	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	2903201	74643113	106272147	27	35609											
YTHDC2	64848	hgsc.bcm.edu	37	5	112860848	112860848	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr5:112860848G>C	ENST00000161863.4	+	3	662	c.449G>C	c.(448-450)aGa>aCa	p.R150T	YTHDC2_ENST00000515883.1_Missense_Mutation_p.R150T	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	150					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAAACAGAAAGAGGAAATGTG	0.348																																																0													114	118	116					5																	112860848		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.449G>C	chr5.hg19:g.112860848G>C	ENSP00000161863:p.Arg150Thr		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	hg19	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844331	0.51164	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000514720;ENST00000511372	T;T	0.07327	4.18;3.2	5.93	5.93	0.95920	.	0.157221	0.53938	D	0.000050	T	0.11836	0.0288	L	0.59436	1.845	0.38827	D	0.955758	B	0.26708	0.157	B	0.24394	0.053	T	0.02661	-1.1127	10	0.42905	T	0.14	.	15.4187	0.74995	0.068:0.0:0.932:0.0	.	150	Q9H6S0	YTDC2_HUMAN	T	150;150;90;60	ENSP00000161863:R150T;ENSP00000423101:R150T	ENSP00000161863:R150T	R	+	2	0	YTHDC2	112888747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.170000	0.71920	2.805000	0.96524	0.655000	0.94253	AGA		0.348	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		C	112860848	G	C	112860848	3	2	655	1	0	0	0	0	1	0	0	0	17502	942	33	4	459	4	YTHDC2	5	112860848	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	38217735	112860848	68054412	28	35610											
JAKMIP2	9832	hgsc.bcm.edu	37	5	146991868	146991868	+	Splice_Site	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr5:146991868C>T	ENST00000265272.5	-	20	2880		c.e20+1		JAKMIP2_ENST00000333010.6_Splice_Site|JAKMIP2_ENST00000507386.1_Splice_Site	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2							Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGACACCTACCTTTTCTTCT	0.308																																																0													131	122	125					5																	146991868		2203	4300	6503	SO:0001630	splice_region_variant	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2412+1G>A	chr5.hg19:g.146991868C>T			A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Splice_Site	SNP	ENST00000265272.5	hg19	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609318	0.87258	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4408	0.94820	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAKMIP2	146972061	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.249000	0.78278	2.677000	0.91161	0.655000	0.94253	.		0.308	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	Intron	T	146991868	C	T	146991868	5	4	655	1	0	0	0	0	0	0	1	0	7943	521	18	2	27	2	JAKMIP2	5	146991868	Splice_Site	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	34131020	146991868	33923392	29	35611											
NIPAL4	348938	hgsc.bcm.edu	37	5	156899945	156899945	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr5:156899945delA	ENST00000311946.7	+	6	1494	c.1378delA	c.(1378-1380)aaafs	p.K460fs	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Frame_Shift_Del_p.K441fs	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	460						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						AGAGAAACCCAAAGTATTTAT	0.458																																																0													46	46	46					5																	156899945		1887	4106	5993	SO:0001589	frameshift_variant	348938			AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"ichthyin"	609383	"NIPA-like 4"			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1378delA	chr5.hg19:g.156899945delA	ENSP00000311687:p.Lys460fs		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Frame_Shift_Del	DEL	ENST00000311946.7	hg19	CCDS47328.1																																																																																				0.458	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		-	156899945	A	-	156899945	7	5	655	1	0	1	0	1	0	0	0	0	10429	131	5	0	1400	0	NIPAL4	5	156899945	Frame_Shift_Del	DEL	A	TCGA-G7-A8LB-01A-11D-A35Z-10	9908077	156899945	24015315	30	35612											
ZBTB12	221527	hgsc.bcm.edu	37	6	31868749	31868749	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr6:31868749T>G	ENST00000375527.2	-	2	509	c.334A>C	c.(334-336)Atg>Ctg	p.M112L	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						ACGTGCTCCATCTGCAGGTAG	0.567																																																0													80	75	76					6																	31868749		2203	4300	6503	SO:0001583	missense	221527			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.334A>C	chr6.hg19:g.31868749T>G	ENSP00000364677:p.Met112Leu		B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	hg19	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784945	0.90282	.	.	ENSG00000204366	ENST00000375527	T	0.65178	-0.14	4.4	4.4	0.53042	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	T	0.61813	0.2377	L	0.45422	1.42	0.49213	D	0.999769	P	0.40032	0.699	P	0.58130	0.833	T	0.67975	-0.5531	10	0.87932	D	0	.	12.6202	0.56600	0.0:0.0:0.0:1.0	.	112	Q9Y330	ZBT12_HUMAN	L	112	ENSP00000364677:M112L	ENSP00000364677:M112L	M	-	1	0	ZBTB12	31976728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.186000	0.72026	1.615000	0.50252	0.433000	0.28618	ATG		0.567	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		G	31868749	T	G	31868749	3	3	655	1	0	0	0	0	1	0	0	0	17530	1435	50	5	1049	5	ZBTB12	6	31868749	Missense_Mutation	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10		31868749	139246318	31	35613											
HSD17B8	7923	hgsc.bcm.edu	37	6	33173952	33173953	+	Splice_Site	DEL	GG	GG	-			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr6:33173952_33173953delGG	ENST00000374662.3	+	7	720_721	c.693_694delGG	c.(691-696)gaggat>gaat	p.D232fs	HSD17B8_ENST00000469186.1_3'UTR|MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000374656.4_5'Flank	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	232					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						GGGACCCTGAGGGTGAGCACTG	0.49																																																0																																										SO:0001630	splice_region_variant	7923			D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	3554	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 30C, member 1"	601417	"FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.694+1GG>-	chr6.hg19:g.33173952_33173953delGG			A6NLX7|Q5STP7|Q9UIQ1	Frame_Shift_Del	DEL	ENST00000374662.3	hg19	CCDS4769.1																																																																																				0.49	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234	Frame_Shift_Del	-	33173953	GG	-	33173952	8	5	655	1	0	1	0	1	0	0	1	0	7391	1014	35	0	719	0	HSD17B8	6	33173952	Splice_Site	DEL	GG	TCGA-G7-A8LB-01A-11D-A35Z-10	1305203	33173952	137941115	32	35614											
ZNF318	24149	hgsc.bcm.edu	37	6	43305593	43305593	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr6:43305593G>A	ENST00000361428.2	-	10	6220	c.6143C>T	c.(6142-6144)tCt>tTt	p.S2048F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2048					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGTGATACAGAATTTTCTTC	0.468																																																0													91	82	85					6																	43305593		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6143C>T	chr6.hg19:g.43305593G>A	ENSP00000354964:p.Ser2048Phe		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	hg19	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	8.914	0.959432	0.18507	.	.	ENSG00000171467	ENST00000361428	T	0.12774	2.65	5.2	3.27	0.37495	.	0.501221	0.19661	N	0.108975	T	0.10252	0.0251	L	0.32530	0.975	0.44485	D	0.99742	D	0.57571	0.98	P	0.56700	0.804	T	0.04203	-1.0969	10	0.54805	T	0.06	-4.6027	8.6883	0.34251	0.1987:0.0:0.8013:0.0	.	2048	Q5VUA4	ZN318_HUMAN	F	2048	ENSP00000354964:S2048F	ENSP00000354964:S2048F	S	-	2	0	ZNF318	43413571	1.000000	0.71417	0.884000	0.34674	0.096000	0.18686	1.868000	0.39509	1.432000	0.47375	0.655000	0.94253	TCT		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		A	43305593	G	A	43305593	3	1	655	1	0	0	0	0	1	0	0	0	17841	942	33	2	700	2	ZNF318	6	43305593	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	10131641	43305593	127809474	33	35615											
CAPN11	11131	hgsc.bcm.edu	37	6	44140108	44140108	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr6:44140108C>A	ENST00000398776.1	+	5	517	c.479C>A	c.(478-480)cCc>cAc	p.P160H	CAPN11_ENST00000542245.1_Missense_Mutation_p.P160H	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	160	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGCGTGGTGCCCAGAGGACAG	0.577											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													22	23	23					6																	44140108		1939	4119	6058	SO:0001583	missense	11131			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.479C>A	chr6.hg19:g.44140108C>A	ENSP00000381758:p.Pro160His	921	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	hg19	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708456	0.68615	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.92752	-3.1;-3.1	4.05	4.05	0.47172	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.49305	D	0.000159	D	0.97885	0.9305	H	0.99156	4.45	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.98911	1.0780	9	.	.	.	.	16.4876	0.84189	0.0:1.0:0.0:0.0	.	160	Q9UMQ6	CAN11_HUMAN	H	160	ENSP00000381758:P160H;ENSP00000441078:P160H	.	P	+	2	0	CAPN11	44248086	1.000000	0.71417	0.993000	0.49108	0.338000	0.28826	7.580000	0.82523	2.549000	0.85964	0.655000	0.94253	CCC		0.577	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			A	44140108	C	A	44140108	3	1	655	1	0	0	0	0	1	0	0	0	2626	623	22	4	497	4	CAPN11	6	44140108	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	834515	44140108	126974959	34	35616											
RNGTT	8732	hgsc.bcm.edu	37	6	89614664	89614664	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr6:89614664C>A	ENST00000369485.4	-	6	640	c.454G>T	c.(454-456)Gca>Tca	p.A152S	RNGTT_ENST00000369475.3_Missense_Mutation_p.A152S|RNGTT_ENST00000265607.6_Missense_Mutation_p.A152S|RNGTT_ENST00000538899.1_Missense_Mutation_p.A92S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	152	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		GTAGCAACTGCTGCTTCGATA	0.418																																																0													94	95	94					6																	89614664		2203	4300	6503	SO:0001583	missense	8732			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.454G>T	chr6.hg19:g.89614664C>A	ENSP00000358497:p.Ala152Ser		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	hg19	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142079	0.94560	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.74	5.74	0.90152	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.045290	0.85682	D	0.000000	D	0.96932	0.8998	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.63046	0.989;0.992;0.99;0.992	D;D;D;D	0.67900	0.94;0.954;0.923;0.954	D	0.97014	0.9738	10	0.66056	D	0.02	.	19.9357	0.97140	0.0:1.0:0.0:0.0	.	92;152;152;152	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	S	152;152;92;123;152	ENSP00000358497:A152S;ENSP00000265607:A152S;ENSP00000442609:A92S;ENSP00000358487:A152S	ENSP00000265607:A152S	A	-	1	0	RNGTT	89671383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.634000	0.83273	2.715000	0.92844	0.655000	0.94253	GCA		0.418	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			A	89614664	C	A	89614664	3	1	655	1	0	0	0	0	1	0	0	0	13509	797	28	4	1383	4	RNGTT	6	89614664	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	45474556	89614664	81500403	35	35617											
TRAF3IP2	10758	hgsc.bcm.edu	37	6	111880633	111880633	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr6:111880633G>T	ENST00000340026.6	-	10	2294	c.1700C>A	c.(1699-1701)cCc>cAc	p.P567H	TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P557H|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.P146H|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Missense_Mutation_p.P102H|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.P558H			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	567					B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTGAAGGGTGGGCAGAGGCCC	0.562																																																0													90	91	90					6																	111880633		2203	4300	6503	SO:0001583	missense	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1700C>A	chr6.hg19:g.111880633G>T	ENSP00000345984:p.Pro567His		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	hg19		.	.	.	.	.	.	.	.	.	.	G	22.0	4.233749	0.79688	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000392556;ENST00000340026;ENST00000359831;ENST00000368735	T;T;T	0.42900	0.98;0.98;0.96	6.17	6.17	0.99709	.	0.165337	0.56097	D	0.000040	T	0.54598	0.1868	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53315	-0.8456	10	0.87932	D	0	-0.0313	20.8794	0.99867	0.0:0.0:1.0:0.0	.	557	Q7Z6Q1	.	H	567;558;146;567;557;102	ENSP00000357750:P558H;ENSP00000345984:P567H;ENSP00000352889:P557H	ENSP00000345984:P567H	P	-	2	0	TRAF3IP2	111987326	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	4.822000	0.62686	2.941000	0.99782	0.655000	0.94253	CCC		0.562	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			T	111880633	G	T	111880633	3	4	655	1	0	0	0	0	1	0	0	0	16446	1232	43	4	28	4	TRAF3IP2	6	111880633	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	22265969	111880633	59234434	36	35618											
TBP	6908	hgsc.bcm.edu	37	6	170871004	170871004	+	Silent	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000540980.1_Silent_p.Q40Q|TBP_ENST00000230354.6_Silent_p.Q60Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		Ggcagcagcagcaacaacaac	0.542																																																0													43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	chr6.hg19:g.170871004G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	hg19	CCDS5315.1																																																																																				0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871004	G	A	170871004	2	1	655	1	0	0	0	0	0	0	0	1	15649	962	34	2		2	TBP	6	170871004	Silent	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	58990371	170871004	244063	37	35619											
TBP	6908	hgsc.bcm.edu	37	6	170871180	170871180	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr6:170871180C>A	ENST00000392092.2	+	3	635	c.356C>A	c.(355-357)cCa>cAa	p.P119Q	TBP_ENST00000540980.1_Missense_Mutation_p.P99Q|TBP_ENST00000230354.6_Missense_Mutation_p.P119Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	119					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		GGCCAGGCACCACAGCTCTTC	0.622																																																0													136	126	129					6																	170871180		2203	4300	6503	SO:0001583	missense	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.356C>A	chr6.hg19:g.170871180C>A	ENSP00000375942:p.Pro119Gln		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	ENST00000392092.2	hg19	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998609	0.74818	.	.	ENSG00000112592	ENST00000421512;ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091;ENST00000423353	T;T;T;T;T	0.65364	1.03;-0.15;-0.15;-0.15;1.03	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	L	0.29908	0.895	0.80722	D	1	D	0.54397	0.966	P	0.46479	0.518	T	0.57376	-0.7822	10	0.66056	D	0.02	-7.2007	19.3627	0.94446	0.0:1.0:0.0:0.0	.	119	P20226	TBP_HUMAN	Q	119;119;99;119;96;119	ENSP00000400008:P119Q;ENSP00000375942:P119Q;ENSP00000442132:P99Q;ENSP00000230354:P119Q;ENSP00000416482:P119Q	ENSP00000230354:P119Q	P	+	2	0	TBP	170713105	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	7.041000	0.76558	2.571000	0.86741	0.655000	0.94253	CCA		0.622	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		A	170871180	C	A	170871180	3	1	655	1	0	0	0	0	1	0	0	0	15649	594	21	4	362	4	TBP	6	170871180	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	176	170871180	243887	38	35620											
IQCE	23288	hgsc.bcm.edu	37	7	2625912	2625912	+	Silent	SNP	C	C	A	rs547114342		TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr7:2625912C>A	ENST00000402050.2	+	12	1079	c.895C>A	c.(895-897)Cgg>Agg	p.R299R	IQCE_ENST00000404984.1_Silent_p.R248R|IQCE_ENST00000438376.2_Silent_p.R283R|IQCE_ENST00000325979.7_Silent_p.R234R	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	299						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAGCTTGTCCCGGAGTGTCCA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		20372	0.0		0.001	False		,,,				2504	0.0															0													53	62	59					7																	2625912		2006	4165	6171	SO:0001819	synonymous_variant	23288			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.895C>A	chr7.hg19:g.2625912C>A			Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	hg19	CCDS43542.1																																																																																				0.592	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		A	2625912	C	A	2625912	2	1	655	1	0	0	0	0	0	0	0	1	7808	643	23	4		4	IQCE	7	2625912	Silent	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10		2625912	156512751	39	35621											
INMT	11185	hgsc.bcm.edu	37	7	30795228	30795228	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr7:30795228T>G	ENST00000013222.5	+	3	569	c.553T>G	c.(553-555)Tca>Gca	p.S185A	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.S184A	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	185					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CAACCTTGCCTCACTGCTCAA	0.627																																																0													117	99	105					7																	30795228		2203	4300	6503	SO:0001583	missense	11185				CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.553T>G	chr7.hg19:g.30795228T>G	ENSP00000013222:p.Ser185Ala		B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	hg19	CCDS5430.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001013	0.35320	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.09817	2.94;2.94	3.67	-3.34	0.04943	.	2.476700	0.02010	N	0.046915	T	0.15176	0.0366	M	0.79614	2.46	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.21546	0.035;0.035	T	0.39231	-0.9624	10	0.35671	T	0.21	-21.5047	6.0673	0.19870	0.2462:0.0:0.5263:0.2275	.	184;185	B8ZZ69;O95050	.;INMT_HUMAN	A	185;184	ENSP00000013222:S185A;ENSP00000386961:S184A	ENSP00000013222:S185A	S	+	1	0	INMT	30761753	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-1.235000	0.02928	-0.261000	0.09405	0.459000	0.35465	TCA		0.627	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		G	30795228	T	G	30795228	3	3	655	1	0	0	0	0	1	0	0	0	7747	1551	54	5	563	5	INMT	7	30795228	Missense_Mutation	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10	28169316	30795228	128343435	40	35622											
DBF4	10926	hgsc.bcm.edu	37	7	87516694	87516695	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr7:87516694_87516695delAA	ENST00000265728.1	+	5	1005_1006	c.501_502delAA	c.(499-504)gtaaaafs	p.K168fs		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	168	BRCT 2.				DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CATGGGGAGTAAAAATTCTTCA	0.287																																																0																																										SO:0001589	frameshift_variant	10926			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.501_502delAA	chr7.hg19:g.87516696_87516697delAA	ENSP00000265728:p.Lys168fs		A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Frame_Shift_Del	DEL	ENST00000265728.1	hg19	CCDS5611.1																																																																																				0.287	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		-	87516695	AA	-	87516694	7	5	655	1	0	1	0	1	0	0	0	0	4250	349	13	0	519	0	DBF4	7	87516694	Frame_Shift_Del	DEL	AA	TCGA-G7-A8LB-01A-11D-A35Z-10	56721466	87516694	71621969	41	35623											
DYNC1I1	1780	hgsc.bcm.edu	37	7	95668656	95668656	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr7:95668656G>T	ENST00000324972.6	+	14	1676	c.1483G>T	c.(1483-1485)Gca>Tca	p.A495S	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.A478S|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.A458S|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.A478S|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.A475S|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.A458S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	495					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTGCCACATGGCAGTGGGCCC	0.463																																																0													142	130	134					7																	95668656		2203	4300	6503	SO:0001583	missense	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1483G>T	chr7.hg19:g.95668656G>T	ENSP00000320130:p.Ala495Ser		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	hg19	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867794	0.72065	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	N	0.10874	0.06	0.80722	D	1	P;P;P;P;B	0.40638	0.725;0.542;0.542;0.597;0.336	P;B;B;B;B	0.51777	0.679;0.327;0.327;0.401;0.155	T	0.38757	-0.9646	10	0.20046	T	0.44	-0.3946	18.7491	0.91806	0.0:0.0:1.0:0.0	.	478;475;478;495;458	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	S	478;495;458;475;458;478	ENSP00000392337:A478S;ENSP00000320130:A495S;ENSP00000438377:A458S;ENSP00000398118:A475S;ENSP00000352348:A458S;ENSP00000412444:A478S	ENSP00000320130:A495S	A	+	1	0	DYNC1I1	95506592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.753000	0.94483	0.557000	0.71058	GCA		0.463	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		T	95668656	G	T	95668656	3	4	655	1	0	0	0	0	1	0	0	0	4844	1203	42	4	1533	4	DYNC1I1	7	95668656	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	8151962	95668656	63470007	42	35624											
ACTL6B	51412	hgsc.bcm.edu	37	7	100253150	100253150	+	Silent	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr7:100253150C>T	ENST00000160382.5	-	3	268	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	54	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting. {ECO:0000250}.				chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGTCCCCCTCCAGCTCCAGCC	0.637																																																0													110	83	92					7																	100253150		2203	4300	6503	SO:0001819	synonymous_variant	51412			AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"actin-like 6"	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.162G>A	chr7.hg19:g.100253150C>T			A4D2D0|O75421	Silent	SNP	ENST00000160382.5	hg19	CCDS5702.1																																																																																				0.637	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		T	100253150	C	T	100253150	2	4	655	1	0	0	0	0	0	0	0	1	199	581	21	2		2	ACTL6B	7	100253150	Silent	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	4584494	100253150	58885513	43	35625											
EXOC4	60412	hgsc.bcm.edu	37	7	133059613	133059615	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	GAC	GAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr7:133059613_133059615delGAC	ENST00000253861.4	+	7	1068_1070	c.1039_1041delGAC	c.(1039-1041)gacdel	p.D347del	EXOC4_ENST00000393161.2_In_Frame_Del_p.D347del|EXOC4_ENST00000539845.1_In_Frame_Del_p.D246del	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	347					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTACTGTTTGACAAGTTTAATG	0.438																																																0																																										SO:0001651	inframe_deletion	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1039_1041delGAC	chr7.hg19:g.133059613_133059615delGAC	ENSP00000253861:p.Asp347del		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	In_Frame_Del	DEL	ENST00000253861.4	hg19	CCDS5829.1																																																																																				0.438	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		-	133059615	GAC	-	133059613	7	5	655	1	0	1	0	1	0	0	0	0	5308	1290	45	0	1065	0	EXOC4	7	133059613	In_Frame_Del	DEL	GAC	TCGA-G7-A8LB-01A-11D-A35Z-10	32806463	133059613	26079050	44	35626											
MYOM2	9172	hgsc.bcm.edu	37	8	2026963	2026963	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr8:2026963G>T	ENST00000262113.4	+	12	1552	c.1411G>T	c.(1411-1413)Gtc>Ttc	p.V471F	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	471	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACCCTCCAGGGTCTCTGATGC	0.542																																																0													138	147	144					8																	2026963		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1411G>T	chr8.hg19:g.2026963G>T	ENSP00000262113:p.Val471Phe		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	hg19	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	9.827	1.187293	0.21870	.	.	ENSG00000036448	ENST00000262113	T	0.60548	0.18	4.71	2.88	0.33553	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.264519	0.31721	N	0.007172	T	0.55242	0.1908	M	0.74881	2.28	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.52711	-0.8539	10	0.46703	T	0.11	.	10.2016	0.43087	0.1646:0.0:0.8354:0.0	.	471	P54296	MYOM2_HUMAN	F	471	ENSP00000262113:V471F	ENSP00000262113:V471F	V	+	1	0	MYOM2	2014370	0.195000	0.23338	0.741000	0.31004	0.515000	0.34225	1.501000	0.35693	0.494000	0.27859	0.561000	0.74099	GTC		0.542	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		T	2026963	G	T	2026963	3	4	655	1	0	0	0	0	1	0	0	0	10094	1261	44	4	1453	4	MYOM2	8	2026963	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10		2026963	144337059	45	35627											
UBR5	51366	hgsc.bcm.edu	37	8	103273473	103273473	+	Silent	SNP	A	A	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr8:103273473A>T	ENST00000520539.1	-	56	8463	c.7857T>A	c.(7855-7857)ccT>ccA	p.P2619P	UBR5_ENST00000220959.4_Silent_p.P2618P|UBR5_ENST00000518205.1_Silent_p.P347P|UBR5_ENST00000521922.1_Silent_p.P2612P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2619	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTACACCATTAGGAATGAGTT	0.348																																					Ovarian(131;96 1741 5634 7352 27489)											0													152	130	138					8																	103273473		2203	4300	6503	SO:0001819	synonymous_variant	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7857T>A	chr8.hg19:g.103273473A>T			B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	hg19	CCDS34933.1																																																																																				0.348	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		T	103273473	A	T	103273473	2	4	655	1	0	0	0	0	0	0	0	1	16910	407	15	5		5	UBR5	8	103273473	Silent	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	101246510	103273473	43090549	46	35628											
LRRC14	9684	hgsc.bcm.edu	37	8	145745846	145745846	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr8:145745846T>G	ENST00000292524.1	+	3	700	c.554T>G	c.(553-555)cTc>cGc	p.L185R	RECQL4_ENST00000532237.1_5'Flank|RECQL4_ENST00000428558.2_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.L185R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	185										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGGGAGGCACTCCGAAGCAGC	0.711																																																0													44	51	49					8																	145745846		2203	4297	6500	SO:0001583	missense	9684			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.554T>G	chr8.hg19:g.145745846T>G	ENSP00000292524:p.Leu185Arg		A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	hg19	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.467258	0.43839	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.23950	1.88;4.7;4.7	4.51	4.51	0.55191	.	0.414516	0.23716	N	0.045274	T	0.45094	0.1325	L	0.58101	1.795	0.50171	D	0.999857	D	0.89917	1.0	D	0.81914	0.995	T	0.39014	-0.9634	10	0.59425	D	0.04	.	11.7962	0.52102	0.0:0.0:0.0:1.0	.	185	Q15048	LRC14_HUMAN	R	185	ENSP00000436452:L185R;ENSP00000434768:L185R;ENSP00000292524:L185R	ENSP00000292524:L185R	L	+	2	0	LRRC14	145716654	0.497000	0.26067	0.055000	0.19348	0.133000	0.20885	3.701000	0.54793	1.893000	0.54813	0.379000	0.24179	CTC		0.711	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		G	145745846	T	G	145745846	3	3	655	1	0	0	0	0	1	0	0	0	8970	1551	54	5	560	5	LRRC14	8	145745846	Missense_Mutation	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10	42472373	145745846	618176	47	35629											
CDC37L1	55664	hgsc.bcm.edu	37	9	4701924	4701925	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr9:4701924_4701925insT	ENST00000381854.3	+	6	1010_1011	c.808_809insT	c.(808-810)gtafs	p.V270fs	CDC37L1_ENST00000381858.1_Frame_Shift_Ins_p.V270fs	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	270	Interaction with Hsp70.|Self-association and interaction with Hsp90.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CAAGTCAAGAGTAAGACTTTAT	0.332																																																0																																										SO:0001589	frameshift_variant	55664			AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1", "cell division cycle 37 homolog (S. cerevisiae)-like 1"				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.809dupT	chr9.hg19:g.4701925_4701925dupT	ENSP00000371278:p.Val270fs		B1AL70|Q9NWS3|Q9NX16	Frame_Shift_Ins	INS	ENST00000381854.3	hg19	CCDS6454.1																																																																																				0.332	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		T	4701925	-	T	4701924	7	5	655	1	0	1	1	0	0	0	0	0	3071	1029	36	0	830	0	CDC37L1	9	4701924	Frame_Shift_Ins	INS	-	TCGA-G7-A8LB-01A-11D-A35Z-10		4701924	136511507	48	35630											
FREM1	158326	hgsc.bcm.edu	37	9	14776064	14776064	+	Missense_Mutation	SNP	G	G	A	rs369703203		TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr9:14776064G>A	ENST00000380880.3	-	25	5363	c.4580C>T	c.(4579-4581)cCt>cTt	p.P1527L	FREM1_ENST00000486223.1_5'Flank|FREM1_ENST00000380894.1_Missense_Mutation_p.P63L|FREM1_ENST00000380881.4_Missense_Mutation_p.P1528L|FREM1_ENST00000422223.2_Missense_Mutation_p.P1527L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1527					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAGGAGGTCAGGGGAAAGCAG	0.602																																																0													123	135	131					9																	14776064		2020	4176	6196	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4580C>T	chr9.hg19:g.14776064G>A	ENSP00000370262:p.Pro1527Leu		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	hg19	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788320	0.70337	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.78003	0.66;0.66;-1.14;0.66	6.16	6.16	0.99307	.	0.207579	0.51477	D	0.000082	T	0.79964	0.4537	M	0.77103	2.36	0.80722	D	1	B;B	0.28378	0.075;0.209	B;B	0.24155	0.027;0.051	T	0.75207	-0.3399	10	0.37606	T	0.19	-4.5244	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1527;63	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	L	1528;1527;63;1527	ENSP00000370263:P1528L;ENSP00000412940:P1527L;ENSP00000370278:P63L;ENSP00000370262:P1527L	ENSP00000370262:P1527L	P	-	2	0	FREM1	14766064	1.000000	0.71417	0.949000	0.38748	0.644000	0.38419	7.598000	0.82745	2.937000	0.99478	0.650000	0.86243	CCT		0.602	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		A	14776064	G	A	14776064	3	1	655	1	0	0	0	0	1	0	0	0	6046	1000	35	2	2011	2	FREM1	9	14776064	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	10074140	14776064	126437367	49	35631											
MAMDC4	158056	hgsc.bcm.edu	37	9	139750216	139750216	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr9:139750216G>A	ENST00000317446.2	+	13	1554	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.G502S	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CGAGGCTGGGGGCTGGGAGGA	0.701																																																0													10	11	11					9																	139750216		2139	4234	6373	SO:0001583	missense	158056			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1504G>A	chr9.hg19:g.139750216G>A	ENSP00000319388:p.Gly502Ser			Missense_Mutation	SNP	ENST00000317446.2	hg19	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.14|17.14	3.313754|3.313754	0.60414|0.60414	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.02525	.|4.26;4.26	3.79|3.79	3.79|3.79	0.43588|0.43588	.|.	0.115488|0.115488	0.38548|0.38548	N|N	0.001648|0.001648	T|T	0.10594|0.10594	0.0259|0.0259	M|M	0.64997|0.64997	1.995|1.995	0.35799|0.35799	D|D	0.823021|0.823021	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.33497|0.33497	-0.9866|-0.9866	7|10	0.46703|0.22109	T|T	0.11|0.4	-31.4467|-31.4467	12.8395|12.8395	0.57793|0.57793	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|502	.|Q6UXC1-2	.|.	E|S	483|502	.|ENSP00000319388:G502S;ENSP00000411339:G502S	ENSP00000400009:G483E|ENSP00000319388:G502S	G|G	+|+	2|1	0|0	MAMDC4|MAMDC4	138870037|138870037	0.997000|0.997000	0.39634|0.39634	0.949000|0.949000	0.38748|0.38748	0.548000|0.548000	0.35241|0.35241	1.906000|1.906000	0.39887|0.39887	2.112000|2.112000	0.64535|0.64535	0.561000|0.561000	0.74099|0.74099	GGG|GGC		0.701	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		A	139750216	G	A	139750216	3	1	655	1	0	0	0	0	1	0	0	0	9206	1232	43	2	1554	2	MAMDC4	9	139750216	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	124974152	139750216	1463215	50	35632											
DIP2C	22982	hgsc.bcm.edu	37	10	459976	459976	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr10:459976C>T	ENST00000280886.6	-	8	1021	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	DIP2C_ENST00000381496.3_Missense_Mutation_p.V205M	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	312						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCGTGACCACGCCCAGCTGC	0.622																																																0													50	53	52					10																	459976		2203	4299	6502	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.934G>A	chr10.hg19:g.459976C>T	ENSP00000280886:p.Val312Met		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	hg19	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230399	0.58777	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.47177	0.85;0.85	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	M	0.78456	2.415	0.54753	D	0.999987	P;P	0.46621	0.881;0.801	B;B	0.34536	0.185;0.097	T	0.61068	-0.7137	10	0.51188	T	0.08	-29.0514	18.7949	0.91990	0.0:1.0:0.0:0.0	.	205;312	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	M	312;205	ENSP00000280886:V312M;ENSP00000370907:V205M	ENSP00000280886:V312M	V	-	1	0	DIP2C	449976	1.000000	0.71417	0.525000	0.27900	0.278000	0.26855	7.776000	0.85560	2.427000	0.82271	0.655000	0.94253	GTG		0.622	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		T	459976	C	T	459976	3	4	655	1	0	0	0	0	1	0	0	0	4531	536	19	1	3856	1	DIP2C	10	459976	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10		459976	135074771	51	35633											
GDF2	2658	hgsc.bcm.edu	37	10	48416620	48416620	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr10:48416620A>G	ENST00000249598.1	-	1	233	c.74T>C	c.(73-75)cTg>cCg	p.L25P		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	25					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCAGCTCTGCAGTGGCTTCCC	0.652																																																0													15	16	16					10																	48416620		2203	4300	6503	SO:0001583	missense	2658			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.74T>C	chr10.hg19:g.48416620A>G	ENSP00000249598:p.Leu25Pro		Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	hg19	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990617	0.74589	.	.	ENSG00000128802	ENST00000249598	T	0.81078	-1.45	5.69	5.69	0.88448	.	0.152498	0.44483	D	0.000444	D	0.84211	0.5422	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84892	0.0837	10	0.51188	T	0.08	.	13.958	0.64162	1.0:0.0:0.0:0.0	.	25	Q9UK05	GDF2_HUMAN	P	25	ENSP00000249598:L25P	ENSP00000249598:L25P	L	-	2	0	GDF2	48036626	1.000000	0.71417	0.770000	0.31555	0.601000	0.36947	6.229000	0.72294	2.292000	0.77174	0.533000	0.62120	CTG		0.652	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		G	48416620	A	G	48416620	3	3	655	1	0	0	0	0	1	0	0	0	6316	188	7	3	1223	3	GDF2	10	48416620	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	47956644	48416620	87118127	52	35634											
HERC4	26091	hgsc.bcm.edu	37	10	69804160	69804160	+	Splice_Site	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr10:69804160C>T	ENST00000395198.3	-	4	634		c.e4+1		HERC4_ENST00000373700.4_Splice_Site|HERC4_ENST00000395187.2_Intron|HERC4_ENST00000412272.2_Splice_Site	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4						cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACCTTTGTTACCTGGGTACTC	0.423																																																0													118	95	103					10																	69804160		2203	4300	6503	SO:0001630	splice_region_variant	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.386+1G>A	chr10.hg19:g.69804160C>T			Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Splice_Site	SNP	ENST00000395198.3	hg19	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007526	0.93287	.	.	ENSG00000148634	ENST00000412272;ENST00000395198;ENST00000373700;ENST00000513996	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4692	0.94956	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC4	69474166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.596000	0.87737	0.591000	0.81541	.		0.423	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601	Intron	T	69804160	C	T	69804160	5	4	655	1	0	0	0	0	0	0	1	0	7062	521	18	2	2878	2	HERC4	10	69804160	Splice_Site	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	21387540	69804160	65730587	53	35635											
UNC5B	219699	hgsc.bcm.edu	37	10	73051493	73051493	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr10:73051493G>T	ENST00000335350.6	+	10	2015	c.1599G>T	c.(1597-1599)caG>caT	p.Q533H	UNC5B_ENST00000373192.4_Missense_Mutation_p.Q522H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	533					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GTTCCCAGCAGCTCTTGGGCC	0.692																																																0													32	33	33					10																	73051493		2203	4299	6502	SO:0001583	missense	219699			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1599G>T	chr10.hg19:g.73051493G>T	ENSP00000334329:p.Gln533His		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	hg19	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	g	10.59	1.392469	0.25118	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.48522	0.87;0.81	4.24	2.12	0.27331	.	0.784528	0.11226	N	0.586193	T	0.23133	0.0559	N	0.03115	-0.41	0.21897	N	0.999482	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18555	-1.0333	10	0.23302	T	0.38	-12.9608	9.6384	0.39824	0.0:0.397:0.478:0.125	.	522;533	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	H	533;522	ENSP00000334329:Q533H;ENSP00000362288:Q522H	ENSP00000334329:Q533H	Q	+	3	2	UNC5B	72721499	0.976000	0.34144	1.000000	0.80357	0.891000	0.51852	0.354000	0.20146	0.866000	0.35629	0.556000	0.70494	CAG		0.692	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		T	73051493	G	T	73051493	3	4	655	1	0	0	0	0	1	0	0	0	16997	962	34	4	1637	4	UNC5B	10	73051493	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	3247333	73051493	62483254	54	35636											
BCCIP	56647	hgsc.bcm.edu	37	10	127512176	127512176	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr10:127512176C>T	ENST00000278100.6	+	1	62	c.50C>T	c.(49-51)cCg>cTg	p.P17L	BCCIP_ENST00000368759.5_Missense_Mutation_p.P17L|UROS_ENST00000368797.4_5'Flank|BCCIP_ENST00000299130.3_Missense_Mutation_p.P17L|UROS_ENST00000368774.1_5'Flank|BCCIP_ENST00000429863.2_Missense_Mutation_p.P17L|UROS_ENST00000368778.3_5'Flank	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	17					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTTCCGCAGCCGCCGGATCCC	0.587																																																0													105	107	106					10																	127512176		2203	4300	6503	SO:0001583	missense	56647			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"BRCA2 and CDKN1A-interacting protein"			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.50C>T	chr10.hg19:g.127512176C>T	ENSP00000278100:p.Pro17Leu		B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	hg19	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935205	0.52866	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.60797	0.46;0.28;0.16;0.47	4.85	1.96	0.26148	.	0.504572	0.16759	N	0.200707	T	0.32734	0.0839	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.20459	0.013;0.013;0.045;0.022;0.004	B;B;B;B;B	0.13407	0.003;0.003;0.009;0.007;0.003	T	0.17868	-1.0355	10	0.48119	T	0.1	-2.3078	6.7389	0.23424	0.0:0.6895:0.0:0.3105	.	17;17;17;17;17	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	L	17	ENSP00000278100:P17L;ENSP00000299130:P17L;ENSP00000357748:P17L;ENSP00000394758:P17L	ENSP00000278100:P17L	P	+	2	0	BCCIP	127502166	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.163000	0.16520	0.120000	0.18254	-0.215000	0.12644	CCG		0.587	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			T	127512176	C	T	127512176	3	4	655	1	0	0	0	0	1	0	0	0	1356	652	23	1	52	1	BCCIP	10	127512176	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	54460683	127512176	8022571	55	35637											
ACP2	53	hgsc.bcm.edu	37	11	47264636	47264637	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr11:47264636_47264637insA	ENST00000256997.3	-	9	1010_1011	c.894_895insT	c.(892-897)gatgtcfs	p.V299fs	ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000533929.1_Frame_Shift_Ins_p.V271fs|ACP2_ENST00000527256.1_Frame_Shift_Ins_p.V267fs|ACP2_ENST00000537863.1_Frame_Shift_Ins_p.V112fs|ACP2_ENST00000529444.1_Frame_Shift_Ins_p.V236fs	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	299					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CCATTGTAGACATCCAGTGCCA	0.584																																					Melanoma(90;262 1440 11488 44828 48531)											0																																										SO:0001589	frameshift_variant	53			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.895dupT	chr11.hg19:g.47264637_47264637dupA	ENSP00000256997:p.Val299fs		E9PCI1|Q561W5|Q9BTU7	Frame_Shift_Ins	INS	ENST00000256997.3	hg19	CCDS7928.1																																																																																				0.584	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		A	47264637	-	A	47264636	7	5	655	1	0	1	1	0	0	0	0	0	163	478	17	0	388	0	ACP2	11	47264636	Frame_Shift_Ins	INS	-	TCGA-G7-A8LB-01A-11D-A35Z-10		47264636	87741880	56	35638											
MTMR2	8898	hgsc.bcm.edu	37	11	95657091	95657091	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr11:95657091G>A	ENST00000346299.5	-	1	368	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000409459.1_5'UTR|MTMR2_ENST00000352297.7_5'UTR|MTMR2_ENST00000393223.3_5'UTR	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	10	Ser-rich.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGGAGCCAAGACTCTCGCAG	0.701																																																0													5	6	5					11																	95657091		2130	4130	6260	SO:0001583	missense	8898			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.28C>T	chr11.hg19:g.95657091G>A	ENSP00000345752:p.Leu10Phe		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	hg19	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813946	0.50527	.	.	ENSG00000087053	ENST00000346299	D	0.95622	-3.76	4.49	2.5	0.30297	.	0.593190	0.14662	N	0.305920	D	0.91040	0.7181	L	0.29908	0.895	0.80722	D	1	D	0.56521	0.976	P	0.44597	0.454	D	0.88605	0.3152	10	0.66056	D	0.02	.	7.3712	0.26802	0.096:0.1696:0.7344:0.0	.	10	Q13614	MTMR2_HUMAN	F	10	ENSP00000345752:L10F	ENSP00000345752:L10F	L	-	1	0	MTMR2	95296739	1.000000	0.71417	0.968000	0.41197	0.179000	0.23085	2.766000	0.47629	1.044000	0.40200	0.561000	0.74099	CTT		0.701	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		A	95657091	G	A	95657091	3	1	655	1	0	0	0	0	1	0	0	0	9946	942	33	2	1963	2	MTMR2	11	95657091	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	48392455	95657091	39349425	57	35639											
TMPRSS4	56649	hgsc.bcm.edu	37	11	117973872	117973872	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr11:117973872C>A	ENST00000437212.3	+	4	428	c.214C>A	c.(214-216)Ccg>Acg	p.P72T	TMPRSS4_ENST00000523251.1_Missense_Mutation_p.P32T|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.P70T|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.P72T			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	72	LDL-receptor class A.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CCACTTCATCCCGAGGAAGCA	0.592																																																0													140	138	138					11																	117973872		2200	4296	6496	SO:0001583	missense	56649			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.214C>A	chr11.hg19:g.117973872C>A	ENSP00000416037:p.Pro72Thr		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	hg19	CCDS31684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.901|7.901	0.734478|0.734478	0.15574|0.15574	.|.	.|.	ENSG00000137648|ENSG00000137648	ENST00000517544|ENST00000534111;ENST00000523251;ENST00000437212;ENST00000522824	.|D;D;D;D	.|0.91996	.|-2.95;-2.95;-2.95;-2.95	5.16|5.16	1.14|1.14	0.20703|0.20703	.|.	0.896737|0.896737	0.09414|0.09414	N|N	0.805430|0.805430	D|D	0.92951|0.92951	0.7757|0.7757	M|M	0.70108|0.70108	2.13|2.13	0.31916|0.31916	N|N	0.614078|0.614078	.|P;P;P;D	.|0.55172	.|0.87;0.949;0.859;0.97	.|B;P;B;P	.|0.51657	.|0.36;0.476;0.358;0.676	D|D	0.88864|0.88864	0.3328|0.3328	6|10	.|0.66056	.|D	.|0.02	.|.	9.626|9.626	0.39750|0.39750	0.0:0.6981:0.0:0.3019|0.0:0.6981:0.0:0.3019	.|.	.|47;32;72;70	.|B7Z900;E7ERX8;Q9NRS4;Q9NRS4-3	.|.;.;TMPS4_HUMAN;.	H|T	38|70;32;72;72	.|ENSP00000435184:P70T;ENSP00000429209:P32T;ENSP00000416037:P72T;ENSP00000430547:P72T	.|ENSP00000416037:P72T	P|P	+|+	2|1	0|0	TMPRSS4|TMPRSS4	117479082|117479082	0.360000|0.360000	0.24964|0.24964	0.448000|0.448000	0.26945|0.26945	0.048000|0.048000	0.14542|0.14542	0.926000|0.926000	0.28804|0.28804	0.203000|0.203000	0.20529|0.20529	-0.379000|-0.379000	0.06801|0.06801	CCC|CCG		0.592	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		A	117973872	C	A	117973872	3	1	655	1	0	0	0	0	1	0	0	0	16254	623	22	4	228	4	TMPRSS4	11	117973872	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	22316781	117973872	17032644	58	35640											
DDX6	1656	hgsc.bcm.edu	37	11	118635954	118635954	+	Silent	SNP	G	G	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr11:118635954G>T	ENST00000526070.2	-	6	969	c.609C>A	c.(607-609)acC>acA	p.T203T	DDX6_ENST00000264018.4_Silent_p.T203T|DDX6_ENST00000534980.1_Silent_p.T203T	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	203	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CTCGTAAATTGGTTCCTCCTG	0.413			T	IGH@	B-NHL																																		Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	0													351	341	344					11																	118635954		1896	4113	6009	SO:0001819	synonymous_variant	1656			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"DEAD-boxes"	2747	protein-coding gene	gene with protein product		600326	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.609C>A	chr11.hg19:g.118635954G>T			Q5D048	Silent	SNP	ENST00000526070.2	hg19	CCDS44751.1																																																																																				0.413	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		T	118635954	G	T	118635954	2	4	655	1	0	0	0	0	0	0	0	1	4379	1335	47	4		4	DDX6	11	118635954	Silent	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	662082	118635954	16370562	59	35641											
SLC6A12	6539	hgsc.bcm.edu	37	12	308000	308000	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr12:308000T>G	ENST00000428720.1	-	8	1552	c.809A>C	c.(808-810)tAc>tCc	p.Y270S	SLC6A12_ENST00000536824.1_Missense_Mutation_p.Y270S|SLC6A12_ENST00000424061.2_Missense_Mutation_p.Y270S|SLC6A12_ENST00000359674.4_Missense_Mutation_p.Y270S|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Missense_Mutation_p.Y270S	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	270					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGGCTTCAAGTAGTAGATGAT	0.537																																																0													148	123	132					12																	308000		2203	4300	6503	SO:0001583	missense	6539			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.809A>C	chr12.hg19:g.308000T>G	ENSP00000388184:p.Tyr270Ser		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	hg19	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135276	0.77662	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.93154	0.7820	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95722	0.8767	10	0.87932	D	0	.	14.0075	0.64473	0.0:0.0:0.0:1.0	.	270	P48065	S6A12_HUMAN	S	270	ENSP00000352702:Y270S;ENSP00000380464:Y270S;ENSP00000388184:Y270S;ENSP00000399136:Y270S;ENSP00000444268:Y270S	ENSP00000352702:Y270S	Y	-	2	0	SLC6A12	178261	1.000000	0.71417	0.994000	0.49952	0.740000	0.42216	7.796000	0.85898	1.762000	0.52044	0.533000	0.62120	TAC		0.537	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		G	308000	T	G	308000	3	3	655	1	0	0	0	0	1	0	0	0	14681	1638	57	5	1071	5	SLC6A12	12	308000	Missense_Mutation	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10		308000	133543895	60	35642											
DDX11	1663	hgsc.bcm.edu	37	12	31237572	31237572	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr12:31237572delG	ENST00000407793.2	+	4	700	c.449delG	c.(448-450)aggfs	p.R150fs	DDX11_ENST00000542838.1_Frame_Shift_Del_p.R150fs|DDX11_ENST00000350437.4_Frame_Shift_Del_p.R150fs|DDX11_ENST00000545668.1_Frame_Shift_Del_p.R150fs|DDX11_ENST00000251758.5_Frame_Shift_Del_p.R150fs|DDX11_ENST00000228264.6_Frame_Shift_Del_p.R124fs	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	150	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGCAGCACAGGGTGCAGCTC	0.582										Multiple Myeloma(12;0.14)																																						0													28	29	29					12																	31237572		2200	4271	6471	SO:0001589	frameshift_variant	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.449delG	chr12.hg19:g.31237572delG	ENSP00000384703:p.Arg150fs		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Frame_Shift_Del	DEL	ENST00000407793.2	hg19	CCDS44856.1																																																																																				0.582	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		-	31237572	G	-	31237572	7	5	655	1	0	1	0	1	0	0	0	0	4345	1000	35	0	459	0	DDX11	12	31237572	Frame_Shift_Del	DEL	G	TCGA-G7-A8LB-01A-11D-A35Z-10	30929572	31237572	102614323	61	35643											
LRRK2	120892	hgsc.bcm.edu	37	12	40760813	40760813	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr12:40760813C>A	ENST00000298910.7	+	50	7454	c.7396C>A	c.(7396-7398)Ctt>Att	p.L2466I		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2466			L -> H (in PARK8). {ECO:0000269|PubMed:18213618}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAAGGAAGCCTTAAAAATGT	0.313																																																0													63	66	65					12																	40760813		2203	4299	6502	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7396C>A	chr12.hg19:g.40760813C>A	ENSP00000298910:p.Leu2466Ile		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	8.406	0.843103	0.16963	.	.	ENSG00000188906	ENST00000298910	T	0.35605	1.3	5.42	5.42	0.78866	WD40 repeat-like-containing domain (1);	0.208934	0.43110	D	0.000601	T	0.28962	0.0719	L	0.45581	1.43	0.35294	D	0.782415	B;B	0.23185	0.081;0.081	B;B	0.17722	0.019;0.019	T	0.29027	-1.0025	10	0.19147	T	0.46	.	10.2613	0.43427	0.0:0.9098:0.0:0.0902	.	2466;2466	Q17RV3;Q5S007	.;LRRK2_HUMAN	I	2466	ENSP00000298910:L2466I	ENSP00000298910:L2466I	L	+	1	0	LRRK2	39047080	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	2.021000	0.41020	2.534000	0.85438	0.313000	0.20887	CTT		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		A	40760813	C	A	40760813	3	1	655	1	0	0	0	0	1	0	0	0	9035	681	24	4	7594	4	LRRK2	12	40760813	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	9523241	40760813	93091082	62	35644											
KCNH3	23416	hgsc.bcm.edu	37	12	49942954	49942955	+	Frame_Shift_Ins	INS	-	-	CGGTGAGCCC	rs369285416		TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr12:49942954_49942955insCGGTGAGCCC	ENST00000257981.6	+	8	1726_1727	c.1466_1467insCGGTGAGCCC	c.(1465-1470)ggcgccfs	p.A490fs		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	490					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ATGCTCATCGGCGGTGAGCCCG	0.688																																																0																																										SO:0001589	frameshift_variant	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	Exception_encountered	chr12.hg19:g.49942955_49942964dupCGGTGAGCCC	ENSP00000257981:p.Ala490fs		Q9UQ06	Frame_Shift_Ins	INS	ENST00000257981.6	hg19	CCDS8786.1																																																																																				0.688	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		CGGTGAGCCC	49942955	-	CGGTGAGCCC	49942954	7	5	655	1	0	1	1	0	0	0	0	0	8035	1203	42	0	1496	0	KCNH3	12	49942954	Frame_Shift_Ins	INS	-	TCGA-G7-A8LB-01A-11D-A35Z-10	9182141	49942954	83908941	63	35645											
LARP4	113251	hgsc.bcm.edu	37	12	50834282	50834282	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr12:50834282C>T	ENST00000398473.2	+	7	812	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	LARP4_ENST00000429001.3_Missense_Mutation_p.H240Y|LARP4_ENST00000518561.1_Missense_Mutation_p.H164Y|LARP4_ENST00000522085.1_Missense_Mutation_p.H234Y|LARP4_ENST00000518444.1_Missense_Mutation_p.H233Y|LARP4_ENST00000347328.5_Missense_Mutation_p.H234Y|LARP4_ENST00000293618.8_Missense_Mutation_p.H234Y	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	234	RRM.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TGAGTTTGCACACAATAGCAA	0.348																																																0													99	88	91					12																	50834282		1863	4108	5971	SO:0001583	missense	113251			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.700C>T	chr12.hg19:g.50834282C>T	ENSP00000381490:p.His234Tyr		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	hg19	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935866	0.34189	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.23	5.23	0.72850	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	N	0.25031	0.7	0.80722	D	1	D;B;D;P;D;D	0.89917	1.0;0.357;0.998;0.583;0.999;0.997	D;B;D;B;D;D	0.80764	0.99;0.155;0.994;0.233;0.968;0.947	T	0.18903	-1.0322	10	0.13853	T	0.58	.	19.1422	0.93450	0.0:1.0:0.0:0.0	.	135;233;234;234;234;240	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	Y	234;240;234;164;234;234;233;164;135;234	ENSP00000293618:H234Y;ENSP00000415464:H240Y;ENSP00000381490:H234Y;ENSP00000429781:H234Y;ENSP00000429077:H233Y;ENSP00000430851:H164Y;ENSP00000340901:H234Y	ENSP00000293618:H234Y	H	+	1	0	LARP4	49120549	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.632000	0.83247	2.609000	0.88269	0.484000	0.47621	CAC		0.348	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		T	50834282	C	T	50834282	3	4	655	1	0	0	0	0	1	0	0	0	8632	478	17	2	726	2	LARP4	12	50834282	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	891328	50834282	83017613	64	35646											
C12orf66	144577	hgsc.bcm.edu	37	12	64615868	64615868	+	Silent	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr12:64615868G>A	ENST00000398055.3	-	1	203	c.150C>T	c.(148-150)agC>agT	p.S50S	C12orf66_ENST00000311915.8_Silent_p.S50S|RPS11P6_ENST00000535684.1_RNA|C12orf66_ENST00000540673.1_5'UTR|C12orf66_ENST00000544871.1_Intron	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	50										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GCGACAGCCAGCTGCCCCCCG	0.617																																																0													31	36	34					12																	64615868		1993	4166	6159	SO:0001819	synonymous_variant	144577				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.150C>T	chr12.hg19:g.64615868G>A			C9JX54|Q8IYA0	Silent	SNP	ENST00000398055.3	hg19	CCDS41803.1																																																																																				0.617	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		A	64615868	G	A	64615868	2	1	655	1	0	0	0	0	0	0	0	1	1711	962	34	2		2	C12orf66	12	64615868	Silent	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	13781586	64615868	69236027	65	35647											
TRHDE	29953	hgsc.bcm.edu	37	12	73012751	73012751	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr12:73012751C>T	ENST00000261180.4	+	13	2363	c.2267C>T	c.(2266-2268)gCt>gTt	p.A756V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	756					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCTTGGCATGCTGCCAGCCGA	0.353																																																0													53	57	56					12																	73012751		2201	4300	6501	SO:0001583	missense	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2267C>T	chr12.hg19:g.73012751C>T	ENSP00000261180:p.Ala756Val		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	hg19	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481616	0.96307	.	.	ENSG00000072657	ENST00000261180	T	0.05649	3.41	5.77	5.77	0.91146	.	0.056300	0.64402	D	0.000001	T	0.09247	0.0228	L	0.35593	1.075	0.80722	D	1	B	0.30563	0.285	B	0.35073	0.195	T	0.28332	-1.0047	10	0.38643	T	0.18	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	756	Q9UKU6	TRHDE_HUMAN	V	756	ENSP00000261180:A756V	ENSP00000261180:A756V	A	+	2	0	TRHDE	71299018	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.160000	0.77495	2.885000	0.99019	0.655000	0.94253	GCT		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		T	73012751	C	T	73012751	3	4	655	1	0	0	0	0	1	0	0	0	16484	797	28	2	2317	2	TRHDE	12	73012751	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	8396883	73012751	60839144	66	35648											
APPL2	55198	hgsc.bcm.edu	37	12	105582149	105582149	+	Silent	SNP	C	C	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr12:105582149C>A	ENST00000258530.3	-	17	1761	c.1536G>T	c.(1534-1536)gtG>gtT	p.V512V	APPL2_ENST00000551662.1_Silent_p.V518V|APPL2_ENST00000539978.2_Silent_p.V469V	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTTCATAAATCACTTCAGTAG	0.423																																																0													142	131	135					12																	105582149		2203	4300	6503	SO:0001819	synonymous_variant	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1536G>T	chr12.hg19:g.105582149C>A			B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000258530.3	hg19	CCDS9101.1																																																																																				0.423	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		A	105582149	C	A	105582149	2	1	655	1	0	0	0	0	0	0	0	1	818	813	29	4		4	APPL2	12	105582149	Silent	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	32569398	105582149	28269746	67	35649											
C12orf51	283450	hgsc.bcm.edu	37	12	112620983	112620983	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr12:112620983C>T	ENST00000430131.2	-	61	10746	c.9601G>A	c.(9601-9603)Gat>Aat	p.D3201N	HECTD4_ENST00000550722.1_Missense_Mutation_p.D3477N|HECTD4_ENST00000377560.5_Missense_Mutation_p.D3451N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3201					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ATCAATTCATCTTCACCATCC	0.368																																																0													181	176	178					12																	112620983		1837	4098	5935	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9601G>A	chr12.hg19:g.112620983C>T	ENSP00000404379:p.Asp3201Asn		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	hg19		.	.	.	.	.	.	.	.	.	.	C	27.9	4.870119	0.91587	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.51574	0.7;0.7;0.7	5.7	5.7	0.88788	.	.	.	.	.	T	0.33702	0.0872	N	0.14661	0.345	0.58432	D	0.999996	P	0.40970	0.734	B	0.34824	0.19	T	0.36359	-0.9751	9	0.87932	D	0	.	18.8233	0.92106	0.0:1.0:0.0:0.0	.	3201	Q9Y4D8	K0614_HUMAN	N	3451;3201;3477	ENSP00000366783:D3451N;ENSP00000404379:D3201N;ENSP00000449784:D3477N	ENSP00000366783:D3451N	D	-	1	0	C12orf51	111105366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.994000	0.76251	2.687000	0.91594	0.655000	0.94253	GAT		0.368	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		T	112620983	C	T	112620983	3	4	655	1	0	0	0	0	1	0	0	0	1698	913	32	2	2449	2	C12orf51	12	112620983	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	7038834	112620983	21230912	68	35650											
TPCN1	53373	hgsc.bcm.edu	37	12	113704112	113704112	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr12:113704112T>A	ENST00000335509.6	+	4	679	c.365T>A	c.(364-366)cTc>cAc	p.L122H	TPCN1_ENST00000392569.4_Missense_Mutation_p.L54H|TPCN1_ENST00000541517.1_Missense_Mutation_p.L194H|TPCN1_ENST00000550785.1_Missense_Mutation_p.L194H	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTGCTGCTGCTCTCCCTGTGC	0.657																																																0													201	208	206					12																	113704112		2203	4300	6503	SO:0001583	missense	53373			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.365T>A	chr12.hg19:g.113704112T>A	ENSP00000335300:p.Leu122His		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	hg19	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.823622	0.90873	.	.	ENSG00000186815	ENST00000552642;ENST00000552985;ENST00000335509;ENST00000552897;ENST00000550785;ENST00000541517;ENST00000392569;ENST00000552542;ENST00000548465	T;D;D;D;D	0.98602	-0.58;-4.88;-5.02;-5.02;-4.96	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000002	D	0.98801	0.9596	M	0.78456	2.415	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.99860	1.1082	10	0.87932	D	0	-27.5316	15.2318	0.73395	0.0:0.0:0.0:1.0	.	122;194;122	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	H	98;208;122;54;194;194;54;54;54	ENSP00000447569:L208H;ENSP00000335300:L122H;ENSP00000448083:L194H;ENSP00000438125:L194H;ENSP00000376350:L54H	ENSP00000335300:L122H	L	+	2	0	TPCN1	112188495	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	7.661000	0.83786	2.001000	0.58596	0.459000	0.35465	CTC		0.657	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		A	113704112	T	A	113704112	3	1	655	1	0	0	0	0	1	0	0	0	16400	1551	54	5	595	5	TPCN1	12	113704112	Missense_Mutation	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10	1083129	113704112	20147783	69	35651											
PIBF1	10464	hgsc.bcm.edu	37	13	73357620	73357620	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr13:73357620A>T	ENST00000326291.6	+	2	351	c.13A>T	c.(13-15)Att>Ttt	p.I5F	DIS3_ENST00000475871.1_5'Flank|DIS3_ENST00000545453.1_5'Flank|DIS3_ENST00000377767.4_5'Flank|DIS3_ENST00000377780.4_5'Flank	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	5						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTCTCGAAAAATTTCAAAGGA	0.269																																																0													44	49	47					13																	73357620		2203	4299	6502	SO:0001583	missense	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.13A>T	chr13.hg19:g.73357620A>T	ENSP00000317144:p.Ile5Phe		O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	hg19	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341787	0.41498	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.24350	1.86	5.19	-2.11	0.07187	.	1.080480	0.06937	N	0.812077	T	0.17746	0.0426	L	0.44542	1.39	0.21697	N	0.999583	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37454	-0.9705	10	0.48119	T	0.1	-1.1276	1.6908	0.02852	0.3442:0.242:0.2958:0.118	.	5;5	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	F	5	ENSP00000317144:I5F	ENSP00000317144:I5F	I	+	1	0	PIBF1	72255621	0.389000	0.25205	0.588000	0.28705	0.994000	0.84299	0.370000	0.20433	0.015000	0.14971	0.397000	0.26171	ATT		0.269	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		T	73357620	A	T	73357620	3	4	655	1	0	0	0	0	1	0	0	0	11881	101	4	5	15	5	PIBF1	13	73357620	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10		73357620	41812258	70	35652											
SALL2	6297	hgsc.bcm.edu	37	14	21991632	21991632	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr14:21991632C>T	ENST00000327430.3	-	2	2524	c.2230G>A	c.(2230-2232)Ggg>Agg	p.G744R	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.G607R|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	744					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTCCCTGCCCCGGAGACTGTA	0.602																																																0													55	48	51					14																	21991632		2203	4300	6503	SO:0001583	missense	6297			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2230G>A	chr14.hg19:g.21991632C>T	ENSP00000333537:p.Gly744Arg		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	hg19	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194957	0.38806	.	.	ENSG00000165821	ENST00000327430;ENST00000450879	T;T	0.04049	3.77;3.72	4.76	4.76	0.60689	.	0.204155	0.24504	N	0.037952	T	0.03651	0.0104	N	0.24115	0.695	0.20307	N	0.999917	B;B;B;B	0.28470	0.213;0.213;0.127;0.127	B;B;B;B	0.17433	0.012;0.018;0.012;0.012	T	0.35325	-0.9793	10	0.59425	D	0.04	-7.6456	8.8209	0.35025	0.0:0.8999:0.0:0.1001	.	607;607;505;744	B4DK65;E7EW59;B4DFD9;Q9Y467	.;.;.;SALL2_HUMAN	R	744;607	ENSP00000333537:G744R;ENSP00000396773:G607R	ENSP00000333537:G744R	G	-	1	0	SALL2	21061472	0.000000	0.05858	0.100000	0.21137	0.130000	0.20726	1.004000	0.29822	2.468000	0.83385	0.563000	0.77884	GGG		0.602	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		T	21991632	C	T	21991632	3	4	655	1	0	0	0	0	1	0	0	0	13817	652	23	1	797	1	SALL2	14	21991632	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10		21991632	85357908	71	35653											
PSMB11	122706	hgsc.bcm.edu	37	14	23511771	23511771	+	Missense_Mutation	SNP	C	C	T	rs376450654		TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr14:23511771C>T	ENST00000408907.2	+	1	396	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	113					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)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GCGGGAGCTGCGGCTTCGGGA	0.597																																																0								C	TRP/ARG	0,4212		0,0,2106	64	70	68		337	3.4	1	14		68	1,8443		0,1,4221	no	missense	PSMB11	NM_001099780.1	101	0,1,6327	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	113/301	23511771	1,12655	2106	4222	6328	SO:0001583	missense	122706				CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.337C>T	chr14.hg19:g.23511771C>T	ENSP00000386212:p.Arg113Trp			Missense_Mutation	SNP	ENST00000408907.2	hg19	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487586	0.64074	0.0	1.18E-4	ENSG00000222028	ENST00000408907	T	0.36340	1.26	5.24	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.92367	3.3	0.42052	D	0.99112	D	0.89917	1.0	D	0.87578	0.998	T	0.74791	-0.3545	10	0.87932	D	0	0.0206	13.1646	0.59562	0.2911:0.7089:0.0:0.0	.	113	A5LHX3	PSB11_HUMAN	W	113	ENSP00000386212:R113W	ENSP00000386212:R113W	R	+	1	2	PSMB11	22581611	0.100000	0.21855	0.999000	0.59377	0.850000	0.48378	0.220000	0.17660	0.553000	0.29044	0.563000	0.77884	CGG		0.597	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		T	23511771	C	T	23511771	3	4	655	1	0	0	0	0	1	0	0	0	12681	759	27	1	339	1	PSMB11	14	23511771	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	1520139	23511771	83837769	72	35654											
MAP1A	4130	hgsc.bcm.edu	37	15	43818609	43818609	+	Silent	SNP	G	G	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr15:43818609G>T	ENST00000300231.5	+	4	5388	c.4938G>T	c.(4936-4938)gtG>gtT	p.V1646V	MAP1A_ENST00000399453.1_Silent_p.V1646V|MAP1A_ENST00000382031.1_Silent_p.V1884V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1646					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCAGGATGTGGTCCAGGAGT	0.582																																																0													45	59	54					15																	43818609		1974	4146	6120	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4938G>T	chr15.hg19:g.43818609G>T			O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	hg19	CCDS42031.1																																																																																				0.582	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		T	43818609	G	T	43818609	2	4	655	1	0	0	0	0	0	0	0	1	9229	1335	47	4		4	MAP1A	15	43818609	Silent	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10		43818609	58712783	73	35655											
CACNA1H	8912	hgsc.bcm.edu	37	16	1259111	1259111	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr16:1259111T>C	ENST00000348261.5	+	17	3691	c.3443T>C	c.(3442-3444)cTg>cCg	p.L1148P	CACNA1H_ENST00000358590.4_Missense_Mutation_p.L1148P|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Missense_Mutation_p.L1148P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1148					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGGAGCAGCCTGGGCCGTGCC	0.726																																																0													4	5	5					16																	1259111		1754	3783	5537	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3443T>C	chr16.hg19:g.1259111T>C	ENSP00000334198:p.Leu1148Pro		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	hg19	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.732137	0.69189	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.88586	-2.4;-2.4	3.9	3.9	0.45041	.	0.585053	0.15998	N	0.234441	D	0.93913	0.8052	M	0.80616	2.505	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.981	D	0.93697	0.7012	10	0.87932	D	0	.	11.9149	0.52759	0.0:0.0:0.0:1.0	.	1148;1148	O95180-2;O95180	.;CAC1H_HUMAN	P	1148	ENSP00000334198:L1148P;ENSP00000351401:L1148P	ENSP00000334198:L1148P	L	+	2	0	CACNA1H	1199112	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	7.552000	0.82192	1.399000	0.46721	0.402000	0.26972	CTG		0.726	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		C	1259111	T	C	1259111	3	2	655	1	0	0	0	0	1	0	0	0	2547	1580	55	3	3505	3	CACNA1H	16	1259111	Missense_Mutation	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10		1259111	89095642	74	35656											
CCDC64B	146439	hgsc.bcm.edu	37	16	3080512	3080512	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr16:3080512G>C	ENST00000572449.1	-	5	762	c.700C>G	c.(700-702)Ctg>Gtg	p.L234V	CCDC64B_ENST00000389347.4_Missense_Mutation_p.L234V|CCDC64B_ENST00000573514.1_Missense_Mutation_p.L27V|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	234										breast(1)|endometrium(2)|large_intestine(1)	4						GTGGTCTGCAGTCTGCCCTCA	0.672																																																0													28	32	31					16																	3080512		2073	4210	6283	SO:0001583	missense	146439			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.700C>G	chr16.hg19:g.3080512G>C	ENSP00000459043:p.Leu234Val		Q658L9	Missense_Mutation	SNP	ENST00000572449.1	hg19	CCDS45393.1	.	.	.	.	.	.	.	.	.	.	G	0.241	-1.013631	0.02095	.	.	ENSG00000162069	ENST00000389347	T	0.33865	1.39	5.15	4.17	0.49024	.	0.191847	0.34386	N	0.004017	T	0.12433	0.0302	N	0.01048	-1.04	0.09310	N	0.999994	B	0.22541	0.071	B	0.23716	0.048	T	0.16600	-1.0397	10	0.10902	T	0.67	-15.3767	12.8777	0.57999	0.0:0.2062:0.7938:0.0	.	234	A1A5D9	BICR2_HUMAN	V	234	ENSP00000373998:L234V	ENSP00000373998:L234V	L	-	1	2	CCDC64B	3020513	0.541000	0.26417	0.878000	0.34440	0.080000	0.17528	2.133000	0.42093	2.420000	0.82092	0.491000	0.48974	CTG		0.672	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			C	3080512	G	C	3080512	3	2	655	1	0	0	0	0	1	0	0	0	2838	1020	36	4	850	4	CCDC64B	16	3080512	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	1821401	3080512	87274241	75	35657											
TMEM186	25880	hgsc.bcm.edu	37	16	8889985	8889985	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr16:8889985A>G	ENST00000333050.6	-	2	499	c.466T>C	c.(466-468)Tgt>Cgt	p.C156R	PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000539622.1_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000566983.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	156						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GCCATGGGACAGTATGTGTCC	0.542																																																0													113	102	106					16																	8889985		2197	4300	6497	SO:0001583	missense	25880			BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 51"	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.466T>C	chr16.hg19:g.8889985A>G	ENSP00000331640:p.Cys156Arg		B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	hg19	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	A	9.941	1.217610	0.22373	.	.	ENSG00000184857	ENST00000333050	T	0.41065	1.01	5.28	4.18	0.49190	.	0.000000	0.49916	D	0.000123	T	0.52661	0.1748	L	0.57536	1.79	0.28050	N	0.933414	D	0.69078	0.997	D	0.65010	0.931	T	0.50189	-0.8857	10	0.72032	D	0.01	-17.9481	5.5333	0.16997	0.7659:0.0:0.0825:0.1516	.	156	Q96B77	TM186_HUMAN	R	156	ENSP00000331640:C156R	ENSP00000331640:C156R	C	-	1	0	TMEM186	8797486	1.000000	0.71417	0.061000	0.19648	0.343000	0.28985	2.999000	0.49473	0.850000	0.35239	0.402000	0.26972	TGT		0.542	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		G	8889985	A	G	8889985	3	3	655	1	0	0	0	0	1	0	0	0	16113	188	7	3	179	3	TMEM186	16	8889985	Missense_Mutation	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	5809473	8889985	81464768	76	35658											
UQCRC2	7385	hgsc.bcm.edu	37	16	21991981	21991981	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr16:21991981delT	ENST00000268379.4	+	13	2002	c.1238delT	c.(1237-1239)cttfs	p.L413fs	UQCRC2_ENST00000561553.1_Intron	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	413					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TCCACAGTCCTTCAGCAGATT	0.408																																					Colon(123;450 1645 12841 25393 45623)											0													144	136	139					16																	21991981		2198	4300	6498	SO:0001589	frameshift_variant	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.1238delT	chr16.hg19:g.21991981delT	ENSP00000268379:p.Leu413fs		B3KSN4|Q9BQ05	Frame_Shift_Del	DEL	ENST00000268379.4	hg19	CCDS10601.1																																																																																				0.408	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		-	21991981	T	-	21991981	7	5	655	1	0	1	0	1	0	0	0	0	17025	1609	56	0	1288	0	UQCRC2	16	21991981	Frame_Shift_Del	DEL	T	TCGA-G7-A8LB-01A-11D-A35Z-10	13101996	21991981	68362772	77	35659											
PALB2	79728	hgsc.bcm.edu	37	16	23646629	23646629	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr16:23646629G>C	ENST00000261584.4	-	4	1390	c.1238C>G	c.(1237-1239)aCa>aGa	p.T413R		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	413	ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome association.|DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CATGCTTCGTGTTGTTCTAAC	0.413			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0													80	83	82					16																	23646629		2197	4300	6497	SO:0001583	missense	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1238C>G	chr16.hg19:g.23646629G>C	ENSP00000261584:p.Thr413Arg		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	hg19	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376583	0.82682	.	.	ENSG00000083093	ENST00000261584	T	0.40756	1.02	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	T	0.65450	0.2692	M	0.72118	2.19	0.41484	D	0.988183	D	0.89917	1.0	D	0.97110	1.0	T	0.66937	-0.5797	10	0.72032	D	0.01	-18.1358	17.6312	0.88108	0.0:0.0:1.0:0.0	.	413	Q86YC2	PALB2_HUMAN	R	413	ENSP00000261584:T413R	ENSP00000261584:T413R	T	-	2	0	PALB2	23554130	1.000000	0.71417	0.991000	0.47740	0.957000	0.61999	6.967000	0.76079	2.836000	0.97738	0.655000	0.94253	ACA		0.413	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		C	23646629	G	C	23646629	3	2	655	1	0	0	0	0	1	0	0	0	11408	1377	48	4	2362	4	PALB2	16	23646629	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	1654648	23646629	66708124	78	35660											
IL21R	50615	hgsc.bcm.edu	37	16	27448951	27448954	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	ACAG	ACAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr16:27448951_27448954delACAG	ENST00000337929.3	+	4	768_771	c.295_298delACAG	c.(295-300)acagacfs	p.TD99fs	IL21R_ENST00000395754.4_Frame_Shift_Del_p.TD99fs|IL21R_ENST00000564089.1_Frame_Shift_Del_p.TD99fs|IL21R_ENST00000395755.1_Frame_Shift_Del_p.TD99fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	99	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGTCAACATCACAGACCAGTCTGG	0.559			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0																																										SO:0001589	frameshift_variant	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.295_298delACAG	chr16.hg19:g.27448951_27448954delACAG	ENSP00000338010:p.Thr99fs		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Frame_Shift_Del	DEL	ENST00000337929.3	hg19	CCDS10630.1																																																																																				0.559	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		-	27448954	ACAG	-	27448951	7	5	655	1	0	1	0	1	0	0	0	0	7673	159	6	0	305	0	IL21R	16	27448951	Frame_Shift_Del	DEL	ACAG	TCGA-G7-A8LB-01A-11D-A35Z-10	3802322	27448951	62905802	79	35661											
PDPR	55066	hgsc.bcm.edu	37	16	70190776	70190776	+	Silent	SNP	G	G	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr16:70190776G>C	ENST00000288050.4	+	19	3591	c.2634G>C	c.(2632-2634)ggG>ggC	p.G878G	RP11-296I10.3_ENST00000502126.1_RNA|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000568530.1_Silent_p.G878G|PDPR_ENST00000567046.1_Silent_p.G236G|PDPR_ENST00000398122.3_Silent_p.G778G|PDPR_ENST00000542659.1_Silent_p.G223G	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	878					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ACTTACATGGGAAGTGATGCC	0.582																																																0													40	48	46					16																	70190776		2122	4228	6350	SO:0001819	synonymous_variant	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2634G>C	chr16.hg19:g.70190776G>C			A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	hg19	CCDS45520.1																																																																																				0.582	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		C	70190776	G	C	70190776	2	2	655	1	0	0	0	0	0	0	0	1	11691	1161	41	4		4	PDPR	16	70190776	Silent	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	42741825	70190776	20163977	80	35662											
ATMIN	23300	hgsc.bcm.edu	37	16	81077147	81077147	+	Silent	SNP	A	A	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr16:81077147A>T	ENST00000299575.4	+	4	1068	c.1044A>T	c.(1042-1044)gtA>gtT	p.V348V	ATMIN_ENST00000566488.1_Silent_p.V192V|ATMIN_ENST00000564241.1_Silent_p.V192V|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	348	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCTTGTCAGTAGGAACCCTGA	0.512																																																0													52	52	52					16																	81077147		2202	4299	6501	SO:0001819	synonymous_variant	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1044A>T	chr16.hg19:g.81077147A>T			A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	hg19	CCDS32494.1																																																																																				0.512	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		T	81077147	A	T	81077147	2	4	655	1	0	0	0	0	0	0	0	1	1110	407	15	5		5	ATMIN	16	81077147	Silent	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	10886371	81077147	9277606	81	35663											
ANKRD11	29123	hgsc.bcm.edu	37	16	89371696	89371696	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr16:89371696delC	ENST00000301030.4	-	4	604	c.144delG	c.(142-144)gggfs	p.G48fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.G48fs|ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000563291.1_Frame_Shift_Del_p.G48fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	48					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCACCTCCTTCCCGCCATCGC	0.567																																																0													67	65	66					16																	89371696		2198	4300	6498	SO:0001589	frameshift_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.144delG	chr16.hg19:g.89371696delC	ENSP00000301030:p.Gly48fs		Q6NTG1|Q6QMF8	Frame_Shift_Del	DEL	ENST00000301030.4	hg19	CCDS32513.1																																																																																				0.567	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		-	89371696	C	-	89371696	7	5	655	1	0	1	0	1	0	0	0	0	639	842	30	0	7887	0	ANKRD11	16	89371696	Frame_Shift_Del	DEL	C	TCGA-G7-A8LB-01A-11D-A35Z-10	8294549	89371696	983057	82	35664											
TRPV3	162514	hgsc.bcm.edu	37	17	3446887	3446887	+	Missense_Mutation	SNP	T	T	C	rs372555157		TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr17:3446887T>C	ENST00000576742.1	-	5	668	c.347A>G	c.(346-348)aAg>aGg	p.K116R	TRPV3_ENST00000572519.1_Missense_Mutation_p.K116R|TRPV3_ENST00000301365.4_Missense_Mutation_p.K116R	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	116					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CAGCCGCCTCTTTTTCCTCCT	0.552																																																0													114	110	111					17																	3446887		2203	4300	6503	SO:0001583	missense	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.347A>G	chr17.hg19:g.3446887T>C	ENSP00000461518:p.Lys116Arg		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	hg19	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	T	8.300	0.819676	0.16607	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.87334	-2.24	5.12	4.02	0.46733	.	0.077629	0.51477	D	0.000083	T	0.74268	0.3694	N	0.20986	0.625	0.22266	N	0.99924	B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.002;0.001;0.001;0.001	T	0.55835	-0.8078	10	0.18276	T	0.48	-9.2531	6.5943	0.22664	0.0:0.1588:0.0:0.8412	.	100;100;116;100;116;116;116	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	R	116;116;100	ENSP00000301365:K116R	ENSP00000301365:K116R	K	-	2	0	TRPV3	3393637	0.967000	0.33354	0.975000	0.42487	0.080000	0.17528	0.927000	0.28818	2.060000	0.61445	0.459000	0.35465	AAG		0.552	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		C	3446887	T	C	3446887	3	2	655	1	0	0	0	0	1	0	0	0	16602	1609	56	3	2081	3	TRPV3	17	3446887	Missense_Mutation	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10		3446887	77748323	83	35665											
RAI1	10743	hgsc.bcm.edu	37	17	17697105	17697105	+	Silent	SNP	G	G	A	rs398124422|rs587780431		TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr17:17697105G>A	ENST00000353383.1	+	3	1312	c.843G>A	c.(841-843)caG>caA	p.Q281Q	RAI1_ENST00000261641.6_Silent_p.Q281Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	281	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		agcagcagcagcagcagcagc	0.632																																																0													20	25	24					17																	17697105		2020	4001	6021	SO:0001819	synonymous_variant	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.843G>A	chr17.hg19:g.17697105G>A			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	hg19	CCDS11188.1																																																																																				0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		A	17697105	G	A	17697105	2	1	655	1	0	0	0	0	0	0	0	1	13013	962	34	2		2	RAI1	17	17697105	Silent	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	14250218	17697105	63498105	84	35666											
DHX8	1659	hgsc.bcm.edu	37	17	41576230	41576230	+	Splice_Site	SNP	A	A	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr17:41576230A>T	ENST00000262415.3	+	10	1373	c.1301A>T	c.(1300-1302)gAt>gTt	p.D434V	DHX8_ENST00000540306.1_Splice_Site_p.D434V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	434					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGACTTTTAGATGAGGACCTT	0.383																																					NSCLC(56;1548 1661 49258 49987)											0													61	59	60					17																	41576230		2203	4300	6503	SO:0001630	splice_region_variant	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1301-1A>T	chr17.hg19:g.41576230A>T				Missense_Mutation	SNP	ENST00000262415.3	hg19	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399319	0.62177	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03607	3.87;3.88	5.19	5.19	0.71726	.	0.050805	0.85682	D	0.000000	T	0.05593	0.0147	L	0.46741	1.465	0.80722	D	1	B;B	0.27140	0.169;0.114	B;B	0.32211	0.142;0.035	T	0.44221	-0.9342	9	.	.	.	.	13.9181	0.63914	1.0:0.0:0.0:0.0	.	434;434	F5H658;Q14562	.;DHX8_HUMAN	V	434	ENSP00000437886:D434V;ENSP00000262415:D434V	.	D	+	2	0	DHX8	38931756	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.937000	0.92936	1.962000	0.57031	0.459000	0.35465	GAT		0.383	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		Missense_Mutation	T	41576230	A	T	41576230	5	4	655	1	0	0	0	0	0	0	1	0	4517	347	12	5	1339	5	DHX8	17	41576230	Splice_Site	SNP	A	TCGA-G7-A8LB-01A-11D-A35Z-10	23879125	41576230	39618980	85	35667											
ADAM11	4185	hgsc.bcm.edu	37	17	42855411	42855411	+	Missense_Mutation	SNP	C	C	T	rs149116155		TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr17:42855411C>T	ENST00000200557.6	+	24	2331	c.2162C>T	c.(2161-2163)aCg>aTg	p.T721M	ADAM11_ENST00000535346.1_Missense_Mutation_p.T521M	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	721					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TCCCCACCCACGGGGGAGACG	0.592																																																0								C	MET/THR	0,4406		0,0,2203	80	83	82		2162	4.9	1	17	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAM11	NM_002390.4	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	721/770	42855411	1,13005	2203	4300	6503	SO:0001583	missense	4185			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2162C>T	chr17.hg19:g.42855411C>T	ENSP00000200557:p.Thr721Met		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	hg19	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964645	0.53507	0.0	1.16E-4	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.02177	4.41;4.79	4.93	4.93	0.64822	.	0.182174	0.45126	D	0.000384	T	0.05640	0.0148	L	0.55990	1.75	0.48452	D	0.999652	P;D	0.60160	0.88;0.987	B;P	0.48227	0.357;0.571	T	0.28170	-1.0052	10	0.66056	D	0.02	.	16.9062	0.86128	0.0:1.0:0.0:0.0	.	521;721	B4DKD2;O75078	.;ADA11_HUMAN	M	721;521	ENSP00000200557:T721M;ENSP00000443773:T521M	ENSP00000200557:T721M	T	+	2	0	ADAM11	40210937	0.108000	0.22018	0.976000	0.42696	0.742000	0.42306	2.312000	0.43726	2.279000	0.76181	0.561000	0.74099	ACG		0.592	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		T	42855411	C	T	42855411	3	4	655	1	0	0	0	0	1	0	0	0	235	536	19	1	2256	1	ADAM11	17	42855411	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	1279181	42855411	38339799	86	35668											
KIAA1632	57724	hgsc.bcm.edu	37	18	43519695	43519695	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr18:43519695T>C	ENST00000282041.5	-	10	2004	c.1970A>G	c.(1969-1971)cAt>cGt	p.H657R		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	657					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGTGCCCAATGGTCACTTAC	0.403																																																0													85	77	80					18																	43519695		1901	4121	6022	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1970A>G	chr18.hg19:g.43519695T>C	ENSP00000282041:p.His657Arg		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	hg19	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799468	0.50208	.	.	ENSG00000152223	ENST00000282041	T	0.11063	2.81	5.4	5.4	0.78164	.	0.430004	0.26832	N	0.022265	T	0.29716	0.0742	L	0.56769	1.78	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.00849	-1.1541	10	0.44086	T	0.13	-15.6279	15.423	0.75028	0.0:0.0:0.0:1.0	.	657;657	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	R	657	ENSP00000282041:H657R	ENSP00000282041:H657R	H	-	2	0	EPG5	41773693	1.000000	0.71417	0.998000	0.56505	0.049000	0.14656	7.318000	0.79029	2.037000	0.60232	0.379000	0.24179	CAT		0.403	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		C	43519695	T	C	43519695	3	2	655	1	0	0	0	0	1	0	0	0	8251	1464	51	3	5909	3	KIAA1632	18	43519695	Missense_Mutation	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10		43519695	34557553	87	35669											
CDH19	28513	hgsc.bcm.edu	37	18	64235858	64235858	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr18:64235858T>G	ENST00000540086.1	-	3	531	c.285A>C	c.(283-285)agA>agC	p.R95S	CDH19_ENST00000262150.2_Missense_Mutation_p.R95S	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	196	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGTCACCTGTTCTTTCATCAA	0.428																																																0													116	112	114					18																	64235858		2203	4299	6502	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.285A>C	chr18.hg19:g.64235858T>G	ENSP00000439593:p.Arg95Ser		O15098	Missense_Mutation	SNP	ENST00000540086.1	hg19	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618194	0.28801	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.50277	0.75;0.75	5.87	-0.598	0.11649	Cadherin (5);Cadherin-like (1);	0.944409	0.09075	N	0.852351	T	0.22859	0.0552	N	0.16833	0.445	0.09310	N	1	B;B	0.22909	0.077;0.056	B;B	0.24394	0.019;0.053	T	0.23797	-1.0178	10	0.07990	T	0.79	.	1.9256	0.03316	0.127:0.3108:0.1313:0.4309	.	95;95	F5H1K0;Q9H159	.;CAD19_HUMAN	S	95;95;40	ENSP00000262150:R95S;ENSP00000439593:R95S	ENSP00000262150:R95S	R	-	3	2	CDH19	62386838	0.000000	0.05858	0.089000	0.20774	0.978000	0.69477	-2.192000	0.01245	-0.084000	0.12595	0.482000	0.46254	AGA		0.428	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		G	64235858	T	G	64235858	3	3	655	1	0	0	0	0	1	0	0	0	3106	1780	62	5	2073	5	CDH19	18	64235858	Missense_Mutation	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10	20716163	64235858	13841390	88	35670											
ZNF236	7776	hgsc.bcm.edu	37	18	74617340	74617340	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr18:74617340C>A	ENST00000253159.8	+	13	2458	c.2260C>A	c.(2260-2262)Cta>Ata	p.L754I	ZNF236_ENST00000320610.9_Missense_Mutation_p.L756I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	754					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TAAGACTTCACTAAATTGCAA	0.423																																																0													57	54	55					18																	74617340		1827	4079	5906	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2260C>A	chr18.hg19:g.74617340C>A	ENSP00000253159:p.Leu754Ile		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	hg19	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872028	0.51695	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.07567	3.18;3.18	5.39	4.28	0.50868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.084389	0.49916	D	0.000138	T	0.09113	0.0225	M	0.65975	2.015	0.20873	N	0.999835	P	0.44090	0.826	B	0.39152	0.292	T	0.25710	-1.0124	10	0.30854	T	0.27	.	6.6764	0.23095	0.0:0.7144:0.0:0.2856	.	754	Q9UL36	ZN236_HUMAN	I	754	ENSP00000253159:L754I;ENSP00000444524:L754I	ENSP00000253159:L754I	L	+	1	2	ZNF236	72746328	0.872000	0.30054	0.123000	0.21794	0.891000	0.51852	1.866000	0.39489	2.687000	0.91594	0.462000	0.41574	CTA		0.423	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			A	74617340	C	A	74617340	3	1	655	1	0	0	0	0	1	0	0	0	17794	564	20	4	2310	4	ZNF236	18	74617340	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	10381482	74617340	3459908	89	35671											
CLEC4G	339390	hgsc.bcm.edu	37	19	7794389	7794389	+	Splice_Site	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr19:7794389G>A	ENST00000328853.5	-	9	813	c.745C>T	c.(745-747)Cac>Tac	p.H249Y	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	249	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						TGGTTCCAGTGGCTACAGGGG	0.592																																					Esophageal Squamous(146;540 1807 3349 19438 30853)											0													44	41	42					19																	7794389		2203	4300	6503	SO:0001630	splice_region_variant	339390			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"C-type lectin domain containing"	24591	protein-coding gene	gene with protein product			"C-type lectin superfamily 4, member G"			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.744-1C>T	chr19.hg19:g.7794389G>A				Missense_Mutation	SNP	ENST00000328853.5	hg19	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	G	2.885	-0.230863	0.05983	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.16324	2.35	5.46	-1.35	0.09114	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.887861	0.09337	N	0.816099	T	0.05090	0.0136	N	0.03177	-0.4	0.30480	N	0.772422	B	0.15141	0.012	B	0.16722	0.016	T	0.46803	-0.9165	10	0.07990	T	0.79	.	2.7461	0.05268	0.326:0.0:0.3351:0.3389	.	249	Q6UXB4	CLC4G_HUMAN	Y	249;133	ENSP00000327599:H249Y	ENSP00000327599:H249Y	H	-	1	0	CLEC4G	7700389	0.996000	0.38824	1.000000	0.80357	0.184000	0.23303	0.063000	0.14410	0.262000	0.21774	-0.181000	0.13052	CAC		0.592	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492	Missense_Mutation	A	7794389	G	A	7794389	5	1	655	1	0	0	0	0	0	0	1	0	3519	1362	47	2	140	2	CLEC4G	19	7794389	Splice_Site	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10		7794389	51334594	90	35672											
MUC16	94025	hgsc.bcm.edu	37	19	8969402	8969403	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr19:8969402_8969403insG	ENST00000397910.4	-	79	43144_43145	c.42941_42942insC	c.(42940-42942)ccafs	p.P14314fs	MUC16_ENST00000380951.5_Frame_Shift_Ins_p.P955fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14409	SEA 15. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGCTTGTTGGTTGATAAAC	0.421																																																0																																										SO:0001589	frameshift_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42942dupC	chr19.hg19:g.8969404_8969404dupG	ENSP00000381008:p.Pro14314fs		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	hg19	CCDS54212.1																																																																																				0.421	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		G	8969403	-	G	8969402	7	5	655	1	0	1	1	0	0	0	0	0	9975	1799	63	0	605	0	MUC16	19	8969402	Frame_Shift_Ins	INS	-	TCGA-G7-A8LB-01A-11D-A35Z-10	1175013	8969402	50159581	91	35673											
SMARCA4	6597	hgsc.bcm.edu	37	19	11123641	11123641	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr19:11123641G>C	ENST00000429416.3	+	17	2572	c.2291G>C	c.(2290-2292)tGg>tCg	p.W764S	RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000444061.3_Missense_Mutation_p.W764S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.W764S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.W764S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.W764S|SMARCA4_ENST00000358026.2_Missense_Mutation_p.W764S|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000413806.3_Missense_Mutation_p.W764S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.W764S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.W764S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	764					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGTTTGGAGTGGCTGGTGTCC	0.592			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											110	90	97					19																	11123641		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2291G>C	chr19.hg19:g.11123641G>C	ENSP00000395654:p.Trp764Ser		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452323	0.84209	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	4.73	4.73	0.59995	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.99650	4.68	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;1.0;1.0;1.0;1.0;1.0	D	0.98997	1.0810	10	0.87932	D	0	-19.8408	16.6409	0.85098	0.0:0.0:1.0:0.0	.	764;764;764;764;764;764;764	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	S	764;764;828;764;764;764;764;764	ENSP00000395654:W764S;ENSP00000350720:W764S;ENSP00000343896:W764S;ENSP00000445036:W764S;ENSP00000392837:W764S;ENSP00000397783:W764S;ENSP00000414727:W764S	ENSP00000343896:W764S	W	+	2	0	SMARCA4	10984641	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.456000	0.83038	0.655000	0.94253	TGG		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		C	11123641	G	C	11123641	3	2	655	1	0	0	0	0	1	0	0	0	14776	1357	47	4	2349	4	SMARCA4	19	11123641	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	2154239	11123641	48005342	92	35674											
SMARCA4	6597	hgsc.bcm.edu	37	19	11141507	11141507	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr19:11141507G>C	ENST00000429416.3	+	26	3765	c.3484G>C	c.(3484-3486)Ggc>Cgc	p.G1162R	SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162R|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1162R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1162	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGGGGGCTCGGCCTGAACCT	0.607			"F, N, Mis"		NSCLC																																		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											24	25	25					19																	11141507		2197	4297	6494	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3484G>C	chr19.hg19:g.11141507G>C	ENSP00000395654:p.Gly1162Arg		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744411	0.89663	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	H	0.99982	5.21	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97655	1.0157	10	0.87932	D	0	-37.1265	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1162;1162;1162;1162;1162;382;1162;1162	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	R	1162;1162;1226;1162;1162;1162;1162;1162	ENSP00000395654:G1162R;ENSP00000350720:G1162R;ENSP00000343896:G1162R;ENSP00000445036:G1162R;ENSP00000392837:G1162R;ENSP00000397783:G1162R;ENSP00000414727:G1162R	ENSP00000343896:G1162R	G	+	1	0	SMARCA4	11002507	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	9.356000	0.97091	2.389000	0.81357	0.563000	0.77884	GGC		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		C	11141507	G	C	11141507	3	2	655	1	0	0	0	0	1	0	0	0	14776	1116	39	4	3578	4	SMARCA4	19	11141507	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	17866	11141507	47987476	93	35675											
LPPR2	64748	hgsc.bcm.edu	37	19	11470232	11470232	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr19:11470232C>A	ENST00000251473.5	+	4	467	c.91C>A	c.(91-93)Ctg>Atg	p.L31M	DKFZP761J1410_ENST00000591608.1_Intron|DKFZP761J1410_ENST00000586431.1_3'UTR	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CATTGTGATCCTGCTTGCTTA	0.612																																																0													114	84	94					19																	11470232		2203	4300	6503	SO:0001583	missense	0																														ENST00000251473.5:c.91C>A	chr19.hg19:g.11470232C>A	ENSP00000251473:p.Leu31Met			Missense_Mutation	SNP	ENST00000251473.5	hg19	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	c	10.93	1.489114	0.26686	.	.	ENSG00000105520	ENST00000251473	T	0.42900	0.96	5.27	4.23	0.50019	.	0.088420	0.47455	D	0.000231	T	0.26521	0.0648	L	0.38838	1.175	0.80722	D	1	B	0.33379	0.41	B	0.25614	0.062	T	0.06534	-1.0821	10	0.27785	T	0.31	.	6.9598	0.24591	0.1712:0.7402:0.0:0.0886	.	31	Q96GM1	LPPR2_HUMAN	M	31	ENSP00000251473:L31M	ENSP00000251473:L31M	L	+	1	2	AC024575.1	11331232	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	1.458000	0.35223	1.229000	0.43630	0.443000	0.29094	CTG		0.612	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			A	11470232	C	A	11470232	3	1	655	1	0	0	0	0	1	0	0	0	8927	680	24	4	97	4	LPPR2	19	11470232	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	328725	11470232	47658751	94	35676											
UNC13A	23025	hgsc.bcm.edu	37	19	17759377	17759377	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr19:17759377G>A	ENST00000519716.2	-	16	1678	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	UNC13A_ENST00000252773.7_Missense_Mutation_p.T560M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T558M|UNC13A_ENST00000428389.2_Missense_Mutation_p.T648M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T560M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T560M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	560					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGTGGTGGCCGTCCACACTTC	0.612																																																0													118	135	129					19																	17759377		2194	4299	6493	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1679C>T	chr19.hg19:g.17759377G>A	ENSP00000429562:p.Thr560Met		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	g	22.5	4.301507	0.81136	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	4.35	3.31	0.37934	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	U	0.000000	D	0.96259	0.8780	M	0.85859	2.78	0.45621	D	0.998556	D	0.89917	1.0	D	0.76071	0.987	D	0.95845	0.8869	10	0.87932	D	0	-20.4176	10.261	0.43427	0.1017:0.0:0.8983:0.0	.	560	Q9UPW8	UN13A_HUMAN	M	560;648;560;560;560;558	ENSP00000429562:T560M;ENSP00000400409:T648M;ENSP00000252773:T560M;ENSP00000447236:T560M;ENSP00000447572:T560M;ENSP00000446831:T558M	ENSP00000252773:T560M	T	-	2	0	UNC13A	17620377	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.567000	0.98161	0.941000	0.37499	0.486000	0.48141	ACG		0.612	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		A	17759377	G	A	17759377	3	1	655	1	0	0	0	0	1	0	0	0	16989	1145	40	1	3544	1	UNC13A	19	17759377	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	6289145	17759377	41369606	95	35677											
RINL	126432	hgsc.bcm.edu	37	19	39360598	39360598	+	Silent	SNP	G	G	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr19:39360598G>T	ENST00000591812.1	-	9	1413	c.1327C>A	c.(1327-1329)Cga>Aga	p.R443R	RINL_ENST00000598904.1_Silent_p.R329R|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000602238.1_5'Flank|RINL_ENST00000340740.3_Silent_p.R329R			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	443	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TTCTCGCCTCGAGCCAGGCCC	0.657											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001819	synonymous_variant	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1327C>A	chr19.hg19:g.39360598G>T		885	B4DPG5	Silent	SNP	ENST00000591812.1	hg19	CCDS59386.1																																																																																				0.657	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		T	39360598	G	T	39360598	2	4	655	1	0	0	0	0	0	0	0	1	13381	1066	37	4		4	RINL	19	39360598	Silent	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	21601221	39360598	19768385	96	35678											
LILRB5	10990	hgsc.bcm.edu	37	19	54758645	54758645	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr19:54758645G>T	ENST00000316219.5	-	6	1315	c.1208C>A	c.(1207-1209)cCc>cAc	p.P403H	LILRB5_ENST00000345866.6_Missense_Mutation_p.P303H|LILRB5_ENST00000449561.2_Missense_Mutation_p.P403H|LILRB5_ENST00000450632.1_Missense_Mutation_p.P394H	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	403	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCAGGTAGGGGTAGGACCT	0.582																																																0													128	104	112					19																	54758645		2203	4300	6503	SO:0001583	missense	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1208C>A	chr19.hg19:g.54758645G>T	ENSP00000320390:p.Pro403His		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	hg19	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741826	0.30865	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00940	5.52;5.52;5.52;5.52	2.54	0.34	0.15985	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.32671	N	0.005791	T	0.05547	0.0146	M	0.93898	3.47	0.09310	N	1	B;D;D;D;D	0.89917	0.33;1.0;1.0;1.0;1.0	B;D;D;D;D	0.85130	0.145;0.996;0.997;0.995;0.992	T	0.13045	-1.0524	10	0.87932	D	0	.	4.5013	0.11865	0.337:0.0:0.663:0.0	.	394;294;303;403;403	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	H	403;394;403;303	ENSP00000320390:P403H;ENSP00000414225:P394H;ENSP00000406478:P403H;ENSP00000263430:P303H	ENSP00000320390:P403H	P	-	2	0	LILRB5	59450457	0.103000	0.21917	0.011000	0.14972	0.001000	0.01503	1.890000	0.39728	0.163000	0.19507	-0.242000	0.12053	CCC		0.582	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			T	54758645	G	T	54758645	3	4	655	1	0	0	0	0	1	0	0	0	8796	1232	43	4	599	4	LILRB5	19	54758645	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	15398047	54758645	4370338	97	35679											
TMX4	56255	hgsc.bcm.edu	37	20	8000101	8000101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr20:8000101C>A	ENST00000246024.2	-	1	375	c.160G>T	c.(160-162)Gag>Tag	p.E54*	RP5-971N18.3_ENST00000457707.1_RNA|RP5-971N18.3_ENST00000607924.1_RNA	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	54	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						AGCATCCACTCGCCCTCCATC	0.741																																																0													12	13	12					20																	8000101		2015	3902	5917	SO:0001587	stop_gained	56255				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.160G>T	chr20.hg19:g.8000101C>A	ENSP00000246024:p.Glu54*		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Nonsense_Mutation	SNP	ENST00000246024.2	hg19	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588182	0.97684	.	.	ENSG00000125827	ENST00000246024;ENST00000527925	.	.	.	5.06	4.05	0.47172	.	0.179090	0.37577	N	0.002027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-11.8472	13.2749	0.60182	0.0:0.7474:0.2526:0.0	.	.	.	.	X	54	.	ENSP00000246024:E54X	E	-	1	0	TMX4	7948101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.196000	0.32198	2.340000	0.79590	0.563000	0.77884	GAG		0.741	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		A	8000101	C	A	8000101	4	1	655	1	0	0	0	0	0	1	0	0	16274	893	31	4	921	4	TMX4	20	8000101	Nonsense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10		8000101	55025419	98	35680											
TM9SF4	9777	hgsc.bcm.edu	37	20	30720849	30720849	+	Silent	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr20:30720849C>T	ENST00000398022.2	+	2	284	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	TM9SF4_ENST00000217315.5_5'UTR	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	17						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCTTTTCTCCCTGATGTGTGA	0.502																																																0													148	132	138					20																	30720849		2203	4300	6503	SO:0001819	synonymous_variant	9777			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.49C>T	chr20.hg19:g.30720849C>T			B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	hg19	CCDS13196.2																																																																																				0.502	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		T	30720849	C	T	30720849	2	4	655	1	0	0	0	0	0	0	0	1	15985	680	24	2		2	TM9SF4	20	30720849	Silent	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	22720748	30720849	32304671	99	35681											
ARFGEF2	10564	hgsc.bcm.edu	37	20	47585740	47585740	+	Silent	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr20:47585740G>A	ENST00000371917.4	+	9	1116	c.1116G>A	c.(1114-1116)aaG>aaA	p.K372K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	372					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTCTGCAGAAGGATGCCTTCC	0.552																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													225	149	175					20																	47585740		2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1116G>A	chr20.hg19:g.47585740G>A			Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	hg19	CCDS13411.1																																																																																				0.552	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		A	47585740	G	A	47585740	2	1	655	1	0	0	0	0	0	0	0	1	853	991	35	2		2	ARFGEF2	20	47585740	Silent	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	16864891	47585740	15439780	100	35682											
PCK1	5105	hgsc.bcm.edu	37	20	56138649	56138651	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr20:56138649_56138651delAGA	ENST00000319441.4	+	6	991_993	c.827_829delAGA	c.(826-831)gagaag>gag	p.K278del	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_In_Frame_Del_p.K146del	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	278					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGAGGGTGAGAAGAAGTACCT	0.562																																																0																																										SO:0001651	inframe_deletion	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.827_829delAGA	chr20.hg19:g.56138652_56138654delAGA	ENSP00000319814:p.Lys278del		A8K437|B4DT64|Q8TCA3|Q9UJD2	In_Frame_Del	DEL	ENST00000319441.4	hg19	CCDS13460.1																																																																																				0.562	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			-	56138651	AGA	-	56138649	7	5	655	1	0	1	0	1	0	0	0	0	11583	304	11	0	845	0	PCK1	20	56138649	In_Frame_Del	DEL	AGA	TCGA-G7-A8LB-01A-11D-A35Z-10	8552909	56138649	6886871	101	35683											
ZC3H7B	23264	hgsc.bcm.edu	37	22	41721848	41721848	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr22:41721848T>C	ENST00000352645.4	+	4	468	c.211T>C	c.(211-213)Tct>Cct	p.S71P	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S71P	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	71					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTACGCTGCCTCTGACCAGGT	0.582																																																0													65	47	53					22																	41721848		2203	4300	6503	SO:0001583	missense	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.211T>C	chr22.hg19:g.41721848T>C	ENSP00000345793:p.Ser71Pro		A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	hg19	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.401268	0.62288	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.60672	0.17;0.17	4.92	4.92	0.64577	Tetratricopeptide-like helical (1);	0.115329	0.64402	D	0.000012	T	0.72252	0.3437	L	0.58810	1.83	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.87578	0.983;0.998	T	0.75717	-0.3220	10	0.87932	D	0	-17.5682	14.5596	0.68126	0.0:0.0:0.0:1.0	.	71;71	Q9UGR2-2;Q9UGR2	.;Z3H7B_HUMAN	P	71	ENSP00000345793:S71P;ENSP00000263243:S71P	ENSP00000263243:S71P	S	+	1	0	ZC3H7B	40051794	1.000000	0.71417	0.986000	0.45419	0.501000	0.33797	4.196000	0.58407	1.842000	0.53543	0.459000	0.35465	TCT		0.582	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		C	41721848	T	C	41721848	3	2	655	1	0	0	0	0	1	0	0	0	17578	1551	54	3	221	3	ZC3H7B	22	41721848	Missense_Mutation	SNP	T	TCGA-G7-A8LB-01A-11D-A35Z-10		41721848	9582718	102	35684											
GTSE1	51512	hgsc.bcm.edu	37	22	46704331	46704331	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr22:46704331G>A	ENST00000454366.1	+	4	465	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	66					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GCCCACATCTGAGAGTCCCTT	0.507																																					GBM(153;542 1915 12487 29016 50495)											0													103	114	110					22																	46704331		2203	4300	6503	SO:0001583	missense	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.253G>A	chr22.hg19:g.46704331G>A	ENSP00000415430:p.Glu85Lys		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	hg19	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915009	0.52546	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08370	3.1	4.75	3.71	0.42584	.	1.192690	0.05519	N	0.561858	T	0.17023	0.0409	L	0.60455	1.87	0.09310	N	1	P	0.50819	0.939	P	0.46076	0.503	T	0.40776	-0.9545	10	0.45353	T	0.12	-1.6438	14.6257	0.68618	0.0:0.2767:0.7233:0.0	.	66	Q9NYZ3	GTSE1_HUMAN	K	85;45	ENSP00000415430:E85K	ENSP00000354634:E45K	E	+	1	0	GTSE1	45082995	0.032000	0.19561	0.002000	0.10522	0.012000	0.07955	2.316000	0.43761	1.287000	0.44583	0.655000	0.94253	GAG		0.507	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		A	46704331	G	A	46704331	3	1	655	1	0	0	0	0	1	0	0	0	6887	1291	45	2	263	2	GTSE1	22	46704331	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10	4982483	46704331	4600235	103	35685											
SHANK3	85358	hgsc.bcm.edu	37	22	51159620	51159620	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chr22:51159620C>T	ENST00000414786.2	+	21	3544	c.3317C>T	c.(3316-3318)gCc>gTc	p.A1106V	SHANK3_ENST00000262795.3_Missense_Mutation_p.A1136V|SHANK3_ENST00000445220.2_Missense_Mutation_p.A1122V			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1120					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CGAGCTCTGGCCTCCCAGGCG	0.716																																																0													8	10	10					22																	51159620		1962	4104	6066	SO:0001583	missense	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3317C>T	chr22.hg19:g.51159620C>T	ENSP00000464552:p.Ala1106Val		D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	hg19		.	.	.	.	.	.	.	.	.	.	C	17.70	3.454930	0.63290	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.17213	2.29;2.29	4.3	4.3	0.51218	.	0.114429	0.64402	D	0.000012	T	0.13415	0.0325	L	0.47716	1.5	0.22511	N	0.999032	B;P;B	0.43750	0.276;0.816;0.16	B;B;B	0.28553	0.045;0.091;0.039	T	0.23726	-1.0180	10	0.66056	D	0.02	.	14.2694	0.66143	0.0:1.0:0.0:0.0	.	1120;1121;1136	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	V	1136;1122	ENSP00000442518:A1136V;ENSP00000446078:A1122V	ENSP00000442518:A1136V	A	+	2	0	SHANK3	49506486	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	5.241000	0.65384	1.949000	0.56562	0.462000	0.41574	GCC		0.716	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		T	51159620	C	T	51159620	3	4	655	1	0	0	0	0	1	0	0	0	14272	739	26	2	3493	2	SHANK3	22	51159620	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	4455289	51159620	144946	104	35686											
NRK	203447	hgsc.bcm.edu	37	X	105199587	105199587	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chrX:105199587G>A	ENST00000243300.9	+	29	5047	c.4744G>A	c.(4744-4746)Gtc>Atc	p.V1582I	NRK_ENST00000428173.2_Missense_Mutation_p.V1583I|NRK_ENST00000540278.1_Missense_Mutation_p.V163I	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1582					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAATTATGATGTCTAAAAGTT	0.363										HNSCC(51;0.14)																																						0													66	54	57					X																	105199587		1815	4062	5877	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4744G>A	chrX.hg19:g.105199587G>A	ENSP00000434830:p.Val1582Ile		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	hg19		.	.	.	.	.	.	.	.	.	.	G	12.10	1.837299	0.32513	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000540278	T;T;T	0.79454	-1.26;-1.27;1.32	5.28	3.47	0.39725	.	0.153157	0.30732	N	0.008995	T	0.60444	0.2269	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.53892	-0.8374	10	0.87932	D	0	.	5.6294	0.17501	0.1834:0.0:0.6565:0.1601	.	163;1582	B7Z1I7;Q7Z2Y5	.;NRK_HUMAN	I	1582;1583;163	ENSP00000434830:V1582I;ENSP00000438378:V1583I;ENSP00000438148:V163I	ENSP00000434830:V1582I	V	+	1	0	NRK	105086243	0.551000	0.26497	0.730000	0.30809	0.001000	0.01503	1.968000	0.40500	0.510000	0.28216	-0.191000	0.12829	GTC		0.363	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		A	105199587	G	A	105199587	3	1	655	1	0	0	0	0	1	0	0	0	10657	1377	48	2	4858	2	NRK	23	105199587	Missense_Mutation	SNP	G	TCGA-G7-A8LB-01A-11D-A35Z-10		105199587	50070973	105	35687											
RGAG1	57529	hgsc.bcm.edu	37	X	109694786	109694786	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LB-01A-11D-A35Z-10	TCGA-G7-A8LB-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f1beace3-f40d-4e2f-abff-815f257096c7	3c8d7f6b-ef32-4955-8113-91d246df62d4	g.chrX:109694786C>T	ENST00000465301.2	+	3	1187	c.941C>T	c.(940-942)tCt>tTt	p.S314F	RGAG1_ENST00000540313.1_Missense_Mutation_p.S314F	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	314										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TTAATGTCATCTCCAGGCTCT	0.493																																																0													249	222	231					X																	109694786		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.941C>T	chrX.hg19:g.109694786C>T	ENSP00000419786:p.Ser314Phe		Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	hg19	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385067	0.25031	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.47177	0.85;0.85	4.05	1.28	0.21552	.	1.603010	0.04115	N	0.315270	T	0.28699	0.0711	N	0.08118	0	0.09310	N	1	B	0.21225	0.053	B	0.24541	0.054	T	0.21518	-1.0243	9	.	.	.	1.2964	7.3573	0.26727	0.0:0.6769:0.0:0.3231	.	314	Q8NET4	RGAG1_HUMAN	F	314	ENSP00000419786:S314F;ENSP00000441452:S314F	.	S	+	2	0	RGAG1	109581442	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	-0.492000	0.06467	0.128000	0.18479	0.600000	0.82982	TCT		0.493	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		T	109694786	C	T	109694786	3	4	655	1	0	0	0	0	1	0	0	0	13280	913	32	2	943	2	RGAG1	23	109694786	Missense_Mutation	SNP	C	TCGA-G7-A8LB-01A-11D-A35Z-10	4495199	109694786	45575774	106	35688											
ZC3H12A	80149	hgsc.bcm.edu	37	1	37948521	37948521	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr1:37948521A>T	ENST00000373087.6	+	6	1225	c.1109A>T	c.(1108-1110)gAg>gTg	p.E370V		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCTAACAGAGAGTGAGCAG	0.617																																																0													23	25	25					1																	37948521		2203	4300	6503	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1109A>T	chr1.hg19:g.37948521A>T	ENSP00000362179:p.Glu370Val			Missense_Mutation	SNP	ENST00000373087.6	hg19	CCDS417.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.662428	0.47572	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.25250	1.81	5.13	5.13	0.70059	.	1.008150	0.07957	N	0.981764	T	0.28830	0.0715	L	0.60455	1.87	0.36399	D	0.862973	P;B	0.38335	0.627;0.031	B;B	0.32928	0.155;0.014	T	0.27123	-1.0083	10	0.48119	T	0.1	-22.1084	13.5216	0.61572	1.0:0.0:0.0:0.0	.	165;370	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	V	370	ENSP00000362179:E370V	ENSP00000362174:E370V	E	+	2	0	ZC3H12A	37721108	1.000000	0.71417	0.333000	0.25482	0.669000	0.39330	4.655000	0.61476	1.917000	0.55516	0.459000	0.35465	GAG		0.617	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		T	37948521	A	T	37948521	3	4	656	1	0	0	0	0	1	0	0	0	17566	304	11	5	1127	5	ZC3H12A	1	37948521	Missense_Mutation	SNP	A	TCGA-G7-A8LC-01A-11D-A35Z-10		37948521	211302100	1	35689											
C1orf26	54823	hgsc.bcm.edu	37	1	185159736	185159736	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr1:185159736C>G	ENST00000367500.4	+	10	1650	c.1485C>G	c.(1483-1485)caC>caG	p.H495Q	SWT1_ENST00000367501.3_Missense_Mutation_p.H495Q	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	495	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTCTCCAGCACCAGGAATTAT	0.313																																																0													163	146	152					1																	185159736		2203	4300	6503	SO:0001583	missense	54823			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1485C>G	chr1.hg19:g.185159736C>G	ENSP00000356470:p.His495Gln		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	hg19	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883969	0.33255	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.16597	2.33;2.33	5.52	1.03	0.20045	Nucleotide binding protein, PINc (1);	0.064362	0.64402	D	0.000004	T	0.05593	0.0147	N	0.02011	-0.69	0.26460	N	0.97547	P	0.36048	0.534	B	0.32677	0.15	T	0.29058	-1.0024	10	0.72032	D	0.01	.	8.4892	0.33089	0.0:0.5494:0.0:0.4506	.	495	Q5T5J6	SWT1_HUMAN	Q	495	ENSP00000356471:H495Q;ENSP00000356470:H495Q	ENSP00000356470:H495Q	H	+	3	2	SWT1	183426359	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	0.853000	0.27777	0.291000	0.22468	-0.254000	0.11334	CAC		0.313	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		G	185159736	C	G	185159736	3	3	656	1	0	0	0	0	1	0	0	0	2037	506	18	4	1519	4	C1orf26	1	185159736	Missense_Mutation	SNP	C	TCGA-G7-A8LC-01A-11D-A35Z-10	147211215	185159736	64090885	2	35690											
POLR1A	25885	hgsc.bcm.edu	37	2	86327152	86327152	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr2:86327152C>T	ENST00000263857.6	-	2	599	c.221G>A	c.(220-222)tGt>tAt	p.C74Y	POLR1A_ENST00000409681.1_Missense_Mutation_p.C74Y			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	74					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGCCCAGAACAGTTGCTGAA	0.567																																																0													90	95	93					2																	86327152		2027	4187	6214	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.221G>A	chr2.hg19:g.86327152C>T	ENSP00000263857:p.Cys74Tyr		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	hg19	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023496	0.75390	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.30981	1.51;1.51	5.78	5.78	0.91487	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76523	-0.2928	10	0.87932	D	0	-22.7322	19.9976	0.97389	0.0:1.0:0.0:0.0	.	74;74	B9ZVN9;O95602	.;RPA1_HUMAN	Y	74	ENSP00000263857:C74Y;ENSP00000386300:C74Y	ENSP00000263857:C74Y	C	-	2	0	POLR1A	86180663	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.268000	0.78473	2.737000	0.93849	0.563000	0.77884	TGT		0.567	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		T	86327152	C	T	86327152	3	4	656	1	0	0	0	0	1	0	0	0	12211	478	17	2	5073	2	POLR1A	2	86327152	Missense_Mutation	SNP	C	TCGA-G7-A8LC-01A-11D-A35Z-10		86327152	156872221	3	35691											
SLC6A3	6531	hgsc.bcm.edu	37	5	1420693	1420693	+	Silent	SNP	G	G	A			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr5:1420693G>A	ENST00000270349.9	-	6	1045	c.918C>T	c.(916-918)tgC>tgT	p.C306C	SLC6A3_ENST00000453492.2_Silent_p.C306C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	306					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGACGCCTCGCAGAGCCGGT	0.592																																																0													120	108	112					5																	1420693		2203	4300	6503	SO:0001819	synonymous_variant	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.918C>T	chr5.hg19:g.1420693G>A			A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	hg19	CCDS3863.1																																																																																				0.592	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		A	1420693	G	A	1420693	2	1	656	1	0	0	0	0	0	0	0	1	14691	1079	38	1		1	SLC6A3	5	1420693	Silent	SNP	G	TCGA-G7-A8LC-01A-11D-A35Z-10		1420693	179494567	4	35692											
SGK223	157285	hgsc.bcm.edu	37	8	8235196	8235196	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr8:8235196C>A	ENST00000520004.1	-	3	987	c.723G>T	c.(721-723)agG>agT	p.R241S	SGK223_ENST00000330777.4_Missense_Mutation_p.R241S			Q86YV5	SG223_HUMAN		241							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGGGCGAGCACCTTTGATCAC	0.647																																					GBM(34;731 755 10259 33573 33867)											0													47	54	51					8																	8235196		1994	4165	6159	SO:0001583	missense	0																														ENST00000520004.1:c.723G>T	chr8.hg19:g.8235196C>A	ENSP00000428054:p.Arg241Ser		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	hg19	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812405	0.70912	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.59224	0.28;0.28	5.55	4.61	0.57282	.	0.853255	0.09935	N	0.736705	T	0.60287	0.2257	L	0.29908	0.895	0.30458	N	0.774609	D	0.59357	0.985	P	0.58620	0.842	T	0.51568	-0.8689	10	0.28530	T	0.3	.	11.8792	0.52564	0.0:0.8245:0.1755:0.0	.	241	Q86YV5	SG223_HUMAN	S	241	ENSP00000330930:R241S;ENSP00000428054:R241S	ENSP00000330930:R241S	R	-	3	2	AC068353.1	8272606	0.832000	0.29368	1.000000	0.80357	0.860000	0.49131	1.246000	0.32803	2.780000	0.95670	0.655000	0.94253	AGG		0.647	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			A	8235196	C	A	8235196	3	1	656	1	0	0	0	0	1	0	0	0	14216	506	18	4	3501	4	SGK223	8	8235196	Missense_Mutation	SNP	C	TCGA-G7-A8LC-01A-11D-A35Z-10		8235196	138128826	5	35693											
TRAPPC9	83696	hgsc.bcm.edu	37	8	140898201	140898201	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr8:140898201G>A	ENST00000438773.2	-	21	3110	c.2977C>T	c.(2977-2979)Cgc>Tgc	p.R993C	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.R1091C|TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R984C	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	993					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCGCCACTGCGCTTCAGGGAG	0.617																																																0													24	23	24					8																	140898201		2195	4284	6479	SO:0001583	missense	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2977C>T	chr8.hg19:g.140898201G>A	ENSP00000405060:p.Arg993Cys		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	hg19	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.028987|4.028987	0.75504|0.75504	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67581|0.67581	0.2908|0.2908	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.997	T|T	0.67654|0.67654	-0.5615|-0.5615	5|9	.|0.49607	.|T	.|0.09	.|.	17.0314|17.0314	0.86462|0.86462	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|993;1091	.|Q96Q05;Q96Q05-2	.|TPPC9_HUMAN;.	V|C	836|1091;984;993	.|.	.|ENSP00000373978:R984C	A|R	-|-	2|1	0|0	TRAPPC9|TRAPPC9	140967383|140967383	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.577000|0.577000	0.36160|0.36160	5.425000|5.425000	0.66470|0.66470	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.617	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		A	140898201	G	A	140898201	3	1	656	1	0	0	0	0	1	0	0	0	16470	1087	38	1	481	1	TRAPPC9	8	140898201	Missense_Mutation	SNP	G	TCGA-G7-A8LC-01A-11D-A35Z-10	132663005	140898201	5465821	6	35694											
DDI1	414301	hgsc.bcm.edu	37	11	103907571	103907571	+	Silent	SNP	C	C	T			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr11:103907571C>T	ENST00000302259.3	+	1	264	c.21C>T	c.(19-21)tgC>tgT	p.C7C	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	7	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						aspartic-type endopeptidase activity (GO:0004190)	p.C7C(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCGTGTACTGCGTGCGGAGGG	0.682																																																1	Substitution - coding silent(1)	large_intestine(1)											74	84	80					11																	103907571		2202	4299	6501	SO:0001819	synonymous_variant	414301				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.21C>T	chr11.hg19:g.103907571C>T			Q7Z4U6|Q8WTS3	Silent	SNP	ENST00000302259.3	hg19	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528853	0.27387	.	.	ENSG00000170962	ENST00000529268	T	0.27402	1.67	5.08	-10.2	0.00374	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50346	-0.8839	6	0.08599	T	0.76	-24.1506	19.4154	0.94694	0.0:0.7017:0.0:0.2983	.	.	.	.	T	62	ENSP00000432909:A62T	ENSP00000432909:A62T	A	-	1	0	PDGFD	103412781	0.972000	0.33761	0.139000	0.22197	0.856000	0.48823	0.059000	0.14322	-2.678000	0.00410	-0.742000	0.03525	GCA		0.682	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		T	103907571	C	T	103907571	2	4	656	1	0	0	0	0	0	0	0	1	4330	776	27	1		1	DDI1	11	103907571	Silent	SNP	C	TCGA-G7-A8LC-01A-11D-A35Z-10		103907571	31098945	7	35695											
SAV1	60485	hgsc.bcm.edu	37	14	51131967	51131967	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr14:51131967delG	ENST00000324679.4	-	2	828	c.465delC	c.(463-465)gacfs	p.D155fs	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	155					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AATATCTGTAGTCTTCATGTG	0.383																																																0													36	38	37					14																	51131967		2200	4290	6490	SO:0001589	frameshift_variant	60485			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"WW domain-containing adaptor 45"	607203	"salvador homolog 1 (Drosophila)"			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.465delC	chr14.hg19:g.51131967delG	ENSP00000324729:p.Asp155fs		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Frame_Shift_Del	DEL	ENST00000324679.4	hg19	CCDS9701.1																																																																																				0.383	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			-	51131967	G	-	51131967	7	5	656	1	0	1	0	1	0	0	0	0	13862	1020	36	0	702	0	SAV1	14	51131967	Frame_Shift_Del	DEL	G	TCGA-G7-A8LC-01A-11D-A35Z-10		51131967	56217573	8	35696	263	2									
SAV1	60485	hgsc.bcm.edu	37	14	51131969	51131969	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr14:51131969C>A	ENST00000324679.4	-	2	826	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	155					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TATCTGTAGTCTTCATGTGCA	0.378																																																0													38	40	39					14																	51131969		2199	4291	6490	SO:0001583	missense	60485			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"WW domain-containing adaptor 45"	607203	"salvador homolog 1 (Drosophila)"			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.463G>T	chr14.hg19:g.51131969C>A	ENSP00000324729:p.Asp155Tyr		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	ENST00000324679.4	hg19	CCDS9701.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498931	0.64298	.	.	ENSG00000151748	ENST00000555720;ENST00000324679;ENST00000535862;ENST00000553731	T;T	0.52295	0.67;0.72	5.29	5.29	0.74685	.	0.090564	0.85682	D	0.000000	T	0.44850	0.1313	L	0.29908	0.895	0.51482	D	0.999924	P	0.50943	0.94	P	0.48030	0.564	T	0.22312	-1.0220	10	0.25751	T	0.34	-4.7833	17.9319	0.88999	0.0:1.0:0.0:0.0	.	155	Q9H4B6	SAV1_HUMAN	Y	87;155;122;39	ENSP00000451492:D87Y;ENSP00000324729:D155Y	ENSP00000324729:D155Y	D	-	1	0	SAV1	50201719	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	4.615000	0.61190	2.467000	0.83353	0.563000	0.77884	GAC		0.378	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			A	51131969	C	A	51131969	3	1	656	1	0	0	0	0	1	0	0	0	13862	913	32	4	704	4	SAV1	14	51131969	Missense_Mutation	SNP	C	TCGA-G7-A8LC-01A-11D-A35Z-10	2	51131969	56217571	9	35697	263	2									
YLPM1	56252	hgsc.bcm.edu	37	14	75276483	75276483	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr14:75276483A>T	ENST00000552421.1	+	6	2928	c.2804A>T	c.(2803-2805)gAt>gTt	p.D935V	YLPM1_ENST00000325680.7_Missense_Mutation_p.D1641V|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1446V			P49750	YLPM1_HUMAN	YLP motif containing 1	1446	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGACTGTTGATTATGGCCAT	0.488																																																0													57	53	54					14																	75276483		1963	4149	6112	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2804A>T	chr14.hg19:g.75276483A>T	ENSP00000447921:p.Asp935Val		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	hg19		.	.	.	.	.	.	.	.	.	.	A	19.26	3.794011	0.70452	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000010	T	0.66346	0.2780	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.70615	-0.4823	9	0.87932	D	0	-10.8543	15.2838	0.73810	1.0:0.0:0.0:0.0	.	1446;1641	P49750-3;P49750-4	.;.	V	935;1641;1446;1354;50	.	ENSP00000238571:D1446V	D	+	2	0	YLPM1	74346236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.204000	0.89741	2.001000	0.58596	0.482000	0.46254	GAT		0.488	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		T	75276483	A	T	75276483	3	4	656	1	0	0	0	0	1	0	0	0	17491	333	12	5	4948	5	YLPM1	14	75276483	Missense_Mutation	SNP	A	TCGA-G7-A8LC-01A-11D-A35Z-10	24144514	75276483	32073057	10	35698											
GPRC5C	55890	hgsc.bcm.edu	37	17	72443056	72443056	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr17:72443056C>A	ENST00000392627.1	+	4	2476	c.1350C>A	c.(1348-1350)aaC>aaA	p.N450K	GPRC5C_ENST00000392629.2_Missense_Mutation_p.N417K|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.N90K|GPRC5C_ENST00000481232.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	405					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCAGTGCCAACTCGACCCTGC	0.612																																																0													68	69	69					17																	72443056		2203	4300	6503	SO:0001583	missense	55890			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1350C>A	chr17.hg19:g.72443056C>A	ENSP00000376403:p.Asn450Lys		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	hg19	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884630	0.72410	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.18810	2.19	5.59	2.49	0.30216	.	0.514125	0.20704	N	0.087204	T	0.34279	0.0892	L	0.44542	1.39	0.39978	D	0.974872	D;P;P;P	0.89917	1.0;0.919;0.842;0.902	D;B;B;B	0.76575	0.988;0.324;0.257;0.442	T	0.05419	-1.0886	10	0.72032	D	0.01	-19.0092	9.4257	0.38578	0.0:0.761:0.0:0.239	.	116;405;405;417	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	K	405;450;116;417;405	ENSP00000376405:N417K	ENSP00000262616:N116K	N	+	3	2	GPRC5C	69954651	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	1.637000	0.37155	0.301000	0.22738	0.561000	0.74099	AAC		0.612	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			A	72443056	C	A	72443056	3	1	656	1	0	0	0	0	1	0	0	0	6728	564	20	4	1372	4	GPRC5C	17	72443056	Missense_Mutation	SNP	C	TCGA-G7-A8LC-01A-11D-A35Z-10		72443056	8752154	11	35699											
POLRMT	5442	hgsc.bcm.edu	37	19	621197	621197	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chr19:621197C>G	ENST00000588649.2	-	10	2585	c.2501G>C	c.(2500-2502)gGc>gCc	p.G834A	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	834	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGTGCGGGCCGAGCGGGCG	0.706																																																0													21	26	24					19																	621197		2196	4294	6490	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2501G>C	chr19.hg19:g.621197C>G	ENSP00000465759:p.Gly834Ala		O60370	Missense_Mutation	SNP	ENST00000588649.2	hg19	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	17.17	3.322127	0.60634	.	.	ENSG00000099821	ENST00000215591	T	0.55413	0.52	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.82089	0.4961	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89045	0.3451	10	0.87932	D	0	-42.5618	16.1611	0.81712	0.0:1.0:0.0:0.0	.	834	O00411	RPOM_HUMAN	A	834	ENSP00000215591:G834A	ENSP00000215591:G834A	G	-	2	0	POLRMT	572197	1.000000	0.71417	0.071000	0.20095	0.151000	0.21798	7.070000	0.76763	2.283000	0.76528	0.455000	0.32223	GGC		0.706	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		G	621197	C	G	621197	3	3	656	1	0	0	0	0	1	0	0	0	12240	739	26	4	1239	4	POLRMT	19	621197	Missense_Mutation	SNP	C	TCGA-G7-A8LC-01A-11D-A35Z-10		621197	58507786	12	35700											
RBM10	8241	hgsc.bcm.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A8LC-01A-11D-A35Z-10	TCGA-G7-A8LC-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	de876c49-d506-4de1-aad0-0136b35dd6f6	394bdf7b-2234-462d-839c-0a6177ffd570	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)											0													20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	chrX.hg19:g.47030582G>T	ENSP00000366829:p.Glu119Asp		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	hg19	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		T	47030582	G	T	47030582	3	4	656	1	0	0	0	0	1	0	0	0	13117	991	35	4	367	4	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-G7-A8LC-01A-11D-A35Z-10		47030582	108239978	13	35701											
LMNA	4000	hgsc.bcm.edu	37	1	156084843	156084843	+	Missense_Mutation	SNP	A	A	G	rs58436778		TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr1:156084843A>G	ENST00000368300.4	+	1	346	c.134A>G	c.(133-135)tAc>tGc	p.Y45C	LMNA_ENST00000347559.2_Missense_Mutation_p.Y45C|LMNA_ENST00000361308.4_Missense_Mutation_p.Y45C|LMNA_ENST00000368301.2_Missense_Mutation_p.Y45C|LMNA_ENST00000368299.3_Missense_Mutation_p.Y45C	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	45	Coil 1A.|Interaction with MLIP.|Rod.		Y -> C (in EDMD2; dbSNP:rs58436778). {ECO:0000269|PubMed:10939567, ECO:0000269|PubMed:20848652}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TTGGCGGTCTACATCGACCGT	0.657									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																							0			GRCh37	CM002044	LMNA	M	rs58436778						39	32	34					1																	156084843		2193	4298	6491	SO:0001583	missense	4000	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.134A>G	chr1.hg19:g.156084843A>G	ENSP00000357283:p.Tyr45Cys		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	hg19	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501352	0.85176	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355	D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47	4.77	3.65	0.41850	Filament (1);	0.000000	0.52532	D	0.000066	D	0.97670	0.9236	H	0.97829	4.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.997;0.998;0.996;0.995	D	0.97223	0.9879	10	0.87932	D	0	.	8.5522	0.33458	0.9076:0.0:0.0924:0.0	rs58436778	45;45;45;45	Q6UYC3;P02545;P02545-3;P02545-2	.;LMNA_HUMAN;.;.	C	45	ENSP00000357284:Y45C;ENSP00000292304:Y45C;ENSP00000355292:Y45C;ENSP00000357283:Y45C;ENSP00000357282:Y45C	ENSP00000292302:Y45C	Y	+	2	0	LMNA	154351467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.097000	0.94193	0.860000	0.35481	0.379000	0.24179	TAC		0.657	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		G	156084843	A	G	156084843	3	3	657	1	0	0	0	0	1	0	0	0	8850	391	14	3	136	3	LMNA	1	156084843	Missense_Mutation	SNP	A	TCGA-G7-A8LD-01A-11D-A35Z-10		156084843	93165778	1	35702											
XPR1	9213	hgsc.bcm.edu	37	1	180843054	180843054	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr1:180843054T>G	ENST00000367590.4	+	13	1982	c.1784T>G	c.(1783-1785)gTc>gGc	p.V595G	XPR1_ENST00000367589.3_Missense_Mutation_p.V530G	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	595	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATTGCTACTGTCTTTGCCCCA	0.378																																																0													117	101	107					1																	180843054		2203	4300	6503	SO:0001583	missense	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1784T>G	chr1.hg19:g.180843054T>G	ENSP00000356562:p.Val595Gly		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	hg19	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587089	0.66105	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.48836	0.8;0.8	5.43	5.43	0.79202	EXS, C-terminal (2);	0.059107	0.64402	D	0.000002	T	0.50803	0.1637	M	0.70842	2.15	0.80722	D	1	B;B	0.28258	0.082;0.205	B;B	0.29176	0.059;0.099	T	0.54918	-0.8221	10	0.87932	D	0	-12.1075	15.1311	0.72523	0.0:0.0:0.0:1.0	.	530;595	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	G	595;530	ENSP00000356562:V595G;ENSP00000356561:V530G	ENSP00000356561:V530G	V	+	2	0	XPR1	179109677	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.917000	0.87498	2.068000	0.61886	0.528000	0.53228	GTC		0.378	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		G	180843054	T	G	180843054	3	3	657	1	0	0	0	0	1	0	0	0	17456	1667	58	5	1834	5	XPR1	1	180843054	Missense_Mutation	SNP	T	TCGA-G7-A8LD-01A-11D-A35Z-10	24758211	180843054	68407567	2	35703											
OBSCN	84033	hgsc.bcm.edu	37	1	228560567	228560567	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr1:228560567C>G	ENST00000422127.1	+	94	22132	c.22088C>G	c.(22087-22089)gCa>gGa	p.A7363G	OBSCN_ENST00000570156.2_Missense_Mutation_p.A8320G|OBSCN_ENST00000366707.4_Missense_Mutation_p.A4997G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7363					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCCCCACGCAGGCCTGGAG	0.692																																																0													16	20	18					1																	228560567		2187	4287	6474	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.22088C>G	chr1.hg19:g.228560567C>G	ENSP00000409493:p.Ala7363Gly		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360250	0.41801	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.62788	0.0;0.05	5.1	2.18	0.27775	.	.	.	.	.	T	0.38904	0.1058	L	0.27053	0.805	0.09310	N	0.99999	P	0.47106	0.89	B	0.35413	0.202	T	0.16988	-1.0384	9	0.32370	T	0.25	.	4.1869	0.10402	0.1709:0.563:0.0:0.2661	.	7363	Q5VST9	OBSCN_HUMAN	G	7363;4997	ENSP00000409493:A7363G;ENSP00000355668:A4997G	ENSP00000355668:A4997G	A	+	2	0	OBSCN	226627190	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.817000	0.27281	0.179000	0.19938	0.491000	0.48974	GCA		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		G	228560567	C	G	228560567	3	3	657	1	0	0	0	0	1	0	0	0	10814	710	25	4	23668	4	OBSCN	1	228560567	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	47717513	228560567	20690054	3	35704											
CCDC104	112942	hgsc.bcm.edu	37	2	55772097	55772138	+	In_Frame_Del	DEL	AGGAGATTGCTTGCAGAGAAACTCAAAGAAGAAGTTATTAAT	AGGAGATTGCTTGCAGAGAAACTCAAAGAAGAAGTTATTAAT	-	rs545373910|rs528334905		TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	AGGAGATTGCTTGCAGAGAAACTCAAAGAAGAAGTTATTAAT	AGGAGATTGCTTGCAGAGAAACTCAAAGAAGAAGTTATTAAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr2:55772097_55772138delAGGAGATTGCTTGCAGAGAAACTCAAAGAAGAAGTTATTAAT	ENST00000349456.4	+	10	1130_1171	c.982_1023delAGGAGATTGCTTGCAGAGAAACTCAAAGAAGAAGTTATTAAT	c.(982-1023)aggagattgcttgcagagaaactcaaagaagaagttattaatdel	p.RRLLAEKLKEEVIN328del	CCDC104_ENST00000339012.3_In_Frame_Del_p.RRLLAEKLKEEVIN353del|CCDC104_ENST00000407816.3_In_Frame_Del_p.RRLLAEKLKEEVIN299del			Q96G28	CFA36_HUMAN		328								p.I340T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATTACTAAAGAGGAGATTGCTTGCAGAGAAACTCAAAGAAGAAGTTATTAATAAGTAATAAT	0.293																																																1	Substitution - Missense(1)	kidney(1)																																								SO:0001651	inframe_deletion	112942																														ENST00000349456.4:c.982_1023delAGGAGATTGCTTGCAGAGAAACTCAAAGAAGAAGTTATTAAT	chr2.hg19:g.55772097_55772138delAGGAGATTGCTTGCAGAGAAACTCAAAGAAGAAGTTATTAAT	ENSP00000295117:p.Arg328_Asn341del		Q53SF0|Q53ST9|Q6UY34	In_Frame_Del	DEL	ENST00000349456.4	hg19	CCDS1854.2																																																																																				0.293	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			-	55772138	AGGAGATTGCTTGCAGAGAAACTCAAAGAAGAAGTTATTAAT	-	55772097	7	5	657	1	0	1	0	1	0	0	0	0	2741	295	11	0	1020	0	CCDC104	2	55772097	In_Frame_Del	DEL	AGGAGATTGCTTGCAGAGAAACTCAAAGAAGAAGTTATTAAT	TCGA-G7-A8LD-01A-11D-A35Z-10		55772097	187427276	4	35705											
USP34	9736	hgsc.bcm.edu	37	2	61522309	61522309	+	Silent	SNP	C	C	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr2:61522309C>T	ENST00000398571.2	-	31	4447	c.4371G>A	c.(4369-4371)gaG>gaA	p.E1457E		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1457					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTACCGTAGACTCCCTCCTTA	0.323																																																0													128	124	125					2																	61522309		1817	4082	5899	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4371G>A	chr2.hg19:g.61522309C>T			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	hg19	CCDS42686.1																																																																																				0.323	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			T	61522309	C	T	61522309	2	4	657	1	0	0	0	0	0	0	0	1	17070	564	20	2		2	USP34	2	61522309	Silent	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	5750212	61522309	181677064	5	35706											
CNTNAP5	129684	hgsc.bcm.edu	37	2	125405341	125405341	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr2:125405341A>T	ENST00000431078.1	+	13	2244	c.1880A>T	c.(1879-1881)aAg>aTg	p.K627M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	627	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAGAGGACAAGATCTGGACA	0.542																																																0													38	38	38					2																	125405341		2104	4237	6341	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1880A>T	chr2.hg19:g.125405341A>T	ENSP00000399013:p.Lys627Met		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792842	0.70452	.	.	ENSG00000155052	ENST00000431078	T	0.21734	1.99	5.5	2.95	0.34219	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.53938	D	0.000058	T	0.46718	0.1407	M	0.82630	2.6	0.53688	D	0.999978	D	0.89917	1.0	D	0.87578	0.998	T	0.50092	-0.8868	10	0.59425	D	0.04	.	11.46	0.50204	0.7146:0.2854:0.0:0.0	.	627	Q8WYK1	CNTP5_HUMAN	M	627	ENSP00000399013:K627M	ENSP00000399013:K627M	K	+	2	0	CNTNAP5	125121811	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.020000	0.70826	0.905000	0.36596	0.459000	0.35465	AAG		0.542	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			T	125405341	A	T	125405341	3	4	657	1	0	0	0	0	1	0	0	0	3652	72	3	5	1930	5	CNTNAP5	2	125405341	Missense_Mutation	SNP	A	TCGA-G7-A8LD-01A-11D-A35Z-10	63883032	125405341	117794032	6	35707											
NCKAP5	344148	hgsc.bcm.edu	37	2	133540804	133540804	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr2:133540804T>C	ENST00000409261.1	-	14	3953	c.3580A>G	c.(3580-3582)Aag>Gag	p.K1194E	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.K1194E|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1194										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGGATTCTTGGAGTCCTCT	0.493																																																0													76	75	76					2																	133540804		1925	4142	6067	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3580A>G	chr2.hg19:g.133540804T>C	ENSP00000387128:p.Lys1194Glu		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	hg19	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068687	0.36470	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09723	2.95;2.95	5.26	-2.18	0.07037	.	1.587860	0.04759	U	0.425865	T	0.04634	0.0126	N	0.19112	0.55	0.09310	N	1	B	0.29301	0.241	B	0.21917	0.037	T	0.29971	-0.9994	10	0.07175	T	0.84	.	1.3436	0.02159	0.246:0.3735:0.136:0.2446	.	1194	O14513	NCKP5_HUMAN	E	1194	ENSP00000387128:K1194E;ENSP00000380603:K1194E	ENSP00000380603:K1194E	K	-	1	0	NCKAP5	133257274	0.000000	0.05858	0.000000	0.03702	0.328000	0.28507	-1.569000	0.02142	0.017000	0.15025	0.533000	0.62120	AAG		0.493	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		C	133540804	T	C	133540804	3	2	657	1	0	0	0	0	1	0	0	0	10225	1821	63	3	2177	3	NCKAP5	2	133540804	Missense_Mutation	SNP	T	TCGA-G7-A8LD-01A-11D-A35Z-10	8135463	133540804	109658569	7	35708											
R3HDM1	23518	hgsc.bcm.edu	37	2	136399272	136399272	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr2:136399272A>T	ENST00000264160.4	+	15	1756	c.1386A>T	c.(1384-1386)caA>caT	p.Q462H	R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q406H|R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q462H|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000329971.3_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	462							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TAAATGGGCAAGTCGCATCTC	0.507																																																0													170	153	159					2																	136399272		2203	4300	6503	SO:0001583	missense	23518			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1386A>T	chr2.hg19:g.136399272A>T	ENSP00000264160:p.Gln462His		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	hg19	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.68|17.68	3.448457|3.448457	0.63178|0.63178	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000264160;ENST00000410054;ENST00000409606|ENST00000429703	T;T;T|.	0.51574|.	0.7;0.7;0.7|.	5.57|5.57	4.35|4.35	0.52113|0.52113	.|.	0.325147|.	0.34652|.	N|.	0.003798|.	T|T	0.62171|0.62171	0.2406|0.2406	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	P;D;B|.	0.56521|.	0.877;0.976;0.412|.	B;P;B|.	0.48030|.	0.365;0.564;0.259|.	T|T	0.60642|0.60642	-0.7223|-0.7223	10|5	0.38643|.	T|.	0.18|.	-3.87|-3.87	12.3297|12.3297	0.55033|0.55033	0.859:0.141:0.0:0.0|0.859:0.141:0.0:0.0	.|.	462;406;462|.	E9PBB4;E9PG42;Q15032|.	.;.;R3HD1_HUMAN|.	H|C	462;406;462|151	ENSP00000264160:Q462H;ENSP00000386877:Q406H;ENSP00000387010:Q462H|.	ENSP00000264160:Q462H|.	Q|S	+|+	3|1	2|0	R3HDM1|R3HDM1	136115742|136115742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.456000|2.456000	0.44997|0.44997	2.120000|2.120000	0.65058|0.65058	0.533000|0.533000	0.62120|0.62120	CAA|AGT		0.507	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		T	136399272	A	T	136399272	3	4	657	1	0	0	0	0	1	0	0	0	12893	69	3	5	1436	5	R3HDM1	2	136399272	Missense_Mutation	SNP	A	TCGA-G7-A8LD-01A-11D-A35Z-10	2858468	136399272	106800101	8	35709											
KIF5C	3800	hgsc.bcm.edu	37	2	149853801	149853801	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr2:149853801C>A	ENST00000435030.1	+	18	2415	c.2047C>A	c.(2047-2049)Cag>Aag	p.Q683K	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.Q588K|KIF5C_ENST00000397413.1_Missense_Mutation_p.Q451K			O60282	KIF5C_HUMAN	kinesin family member 5C	683					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGTCAGCTTCCAGGATAAGGA	0.413																																																0													109	109	109					2																	149853801		2024	4196	6220	SO:0001583	missense	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2047C>A	chr2.hg19:g.149853801C>A	ENSP00000393379:p.Gln683Lys		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	hg19		.	.	.	.	.	.	.	.	.	.	C	7.928	0.740082	0.15642	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.75260	-0.92;-0.92;-0.92	5.76	5.76	0.90799	.	0.201457	0.41938	D	0.000798	T	0.61035	0.2315	.	.	.	0.24214	N	0.995461	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.43702	-0.9375	8	.	.	.	.	14.6636	0.68891	0.1799:0.8201:0.0:0.0	.	683;249	O60282;Q3LIE3	KIF5C_HUMAN;.	K	683;588;586;451	ENSP00000393379:Q683K;ENSP00000410115:Q588K;ENSP00000380560:Q451K	.	Q	+	1	0	KIF5C	149562047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.589000	0.46145	2.713000	0.92767	0.655000	0.94253	CAG		0.413	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		A	149853801	C	A	149853801	3	1	657	1	0	0	0	0	1	0	0	0	8309	595	21	4	2039	4	KIF5C	2	149853801	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	13454529	149853801	93345572	9	35710											
NCL	4691	hgsc.bcm.edu	37	2	232325488	232325488	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr2:232325488C>G	ENST00000322723.4	-	4	943	c.703G>C	c.(703-705)Gat>Cat	p.D235H	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	235	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		tcatcttcatcctcaGCCACG	0.453																																																0													267	223	238					2																	232325488		2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.703G>C	chr2.hg19:g.232325488C>G	ENSP00000318195:p.Asp235His		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	hg19	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771179	0.31320	.	.	ENSG00000115053	ENST00000322723	T	0.21932	1.98	5.46	5.46	0.80206	.	0.531595	0.21728	N	0.070002	T	0.21801	0.0525	L	0.43152	1.355	0.42567	D	0.993167	P	0.37955	0.612	B	0.37833	0.259	T	0.02333	-1.1175	10	0.66056	D	0.02	-6.147	13.9111	0.63866	0.1619:0.8381:0.0:0.0	.	235	P19338	NUCL_HUMAN	H	235	ENSP00000318195:D235H	ENSP00000318195:D235H	D	-	1	0	NCL	232033732	0.996000	0.38824	0.963000	0.40424	0.124000	0.20399	4.189000	0.58358	2.570000	0.86706	0.644000	0.83932	GAT		0.453	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		G	232325488	C	G	232325488	3	3	657	1	0	0	0	0	1	0	0	0	10228	855	30	4	1473	4	NCL	2	232325488	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	82471687	232325488	10873885	10	35711											
PER2	8864	hgsc.bcm.edu	37	2	239164455	239164455	+	Silent	SNP	C	C	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr2:239164455C>T	ENST00000254657.3	-	18	2442	c.2163G>A	c.(2161-2163)aaG>aaA	p.K721K	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	721	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCCCAGCTTCTTGAAGGGCT	0.562																																																0													84	89	87					2																	239164455		2203	4300	6503	SO:0001819	synonymous_variant	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2163G>A	chr2.hg19:g.239164455C>T			A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	hg19	CCDS2528.1																																																																																				0.562	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		T	239164455	C	T	239164455	2	4	657	1	0	0	0	0	0	0	0	1	11732	912	32	2		2	PER2	2	239164455	Silent	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	6838967	239164455	4034918	11	35712											
HACL1	26061	hgsc.bcm.edu	37	3	15616583	15616583	+	Missense_Mutation	SNP	C	C	A			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr3:15616583C>A	ENST00000321169.5	-	10	1177	c.810G>T	c.(808-810)ttG>ttT	p.L270F	HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.L188F|HACL1_ENST00000456194.2_Missense_Mutation_p.L243F|HACL1_ENST00000457447.2_Missense_Mutation_p.L244F	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	270					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CAGCAAATTGCAAAGCCCTAT	0.303																																																0													54	54	54					3																	15616583		2203	4300	6503	SO:0001583	missense	26061			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"2-hydroxyphytanoyl-CoA lyase"	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.810G>T	chr3.hg19:g.15616583C>A	ENSP00000323811:p.Leu270Phe		B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	hg19	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359593	0.61403	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000456194;ENST00000457447	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.77	2.98	0.34508	Thiamine pyrophosphate enzyme, central domain (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.91920	3.255	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.72520	-0.4268	10	0.87932	D	0	.	9.0828	0.36563	0.0:0.6275:0.0:0.3725	.	188;244;243;270	B4DXI5;E9PEN4;B4DWI1;Q9UJ83	.;.;.;HACL1_HUMAN	F	270;188;243;244	ENSP00000323811:L270F;ENSP00000403656:L188F;ENSP00000390699:L243F;ENSP00000404883:L244F	ENSP00000323811:L270F	L	-	3	2	HACL1	15591587	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	1.302000	0.33459	0.340000	0.23745	0.650000	0.86243	TTG		0.303	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		A	15616583	C	A	15616583	3	1	657	1	0	0	0	0	1	0	0	0	6943	709	25	4	958	4	HACL1	3	15616583	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10		15616583	182405847	12	35713											
BAP1	8314	hgsc.bcm.edu	37	3	52437709	52437709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr3:52437709delG	ENST00000460680.1	-	13	1923	c.1452delC	c.(1450-1452)cccfs	p.P484fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.P466fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	188					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGGTGGGTGAGGGCTGCGAGT	0.612			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													42	45	44					3																	52437709		2203	4300	6503	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1452delC	chr3.hg19:g.52437709delG	ENSP00000417132:p.Pro484fs		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	hg19	CCDS2853.1																																																																																				0.612	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-	52437709	G	-	52437709	7	5	657	1	0	1	0	1	0	0	0	0	1311	987	35	0	757	0	BAP1	3	52437709	Frame_Shift_Del	DEL	G	TCGA-G7-A8LD-01A-11D-A35Z-10	36821126	52437709	145584721	13	35714											
COPB2	9276	hgsc.bcm.edu	37	3	139092573	139092573	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr3:139092573C>T	ENST00000333188.5	-	8	1010	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	COPB2_ENST00000507777.1_Missense_Mutation_p.V248M	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	277					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.V277L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AGACTGGCCACGCACCATACC	0.433																																																1	Substitution - Missense(1)	endometrium(1)											156	128	138					3																	139092573		2203	4300	6503	SO:0001583	missense	9276			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.829G>A	chr3.hg19:g.139092573C>T	ENSP00000329419:p.Val277Met		B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	hg19	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290256	0.59976	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.22743	2.07;1.94	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.15392	0.0371	N	0.16016	0.355	0.80722	D	1	B	0.25272	0.122	B	0.19391	0.025	T	0.05920	-1.0856	10	0.41790	T	0.15	-2.1291	18.8549	0.92247	0.0:1.0:0.0:0.0	.	277	P35606	COPB2_HUMAN	M	277;248	ENSP00000329419:V277M;ENSP00000422295:V248M	ENSP00000329419:V277M	V	-	1	0	COPB2	140575263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.942000	0.56614	2.512000	0.84698	0.655000	0.94253	GTG		0.433	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		T	139092573	C	T	139092573	3	4	657	1	0	0	0	0	1	0	0	0	3731	536	19	1	1951	1	COPB2	3	139092573	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	86654864	139092573	58929857	14	35715											
ANK2	287	hgsc.bcm.edu	37	4	114257900	114257915	+	Frame_Shift_Del	DEL	AGATGCACCAACCTTA	AGATGCACCAACCTTA	-			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	AGATGCACCAACCTTA	AGATGCACCAACCTTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr4:114257900_114257915delAGATGCACCAACCTTA	ENST00000357077.4	+	31	3812_3827	c.3759_3774delAGATGCACCAACCTTA	c.(3757-3774)ggagatgcaccaaccttafs	p.GDAPTL1253fs	ANK2_ENST00000509550.1_Frame_Shift_Del_p.GDAPTL429fs|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000506722.1_Frame_Shift_Del_p.GDAPTL1244fs|ANK2_ENST00000264366.6_Frame_Shift_Del_p.GDAPTL1220fs|ANK2_ENST00000394537.3_Frame_Shift_Del_p.GDAPTL1253fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1253	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D1254D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTTTTGGGGGAGATGCACCAACCTTAAGATTACTAT	0.38																																																1	Substitution - coding silent(1)	lung(1)																																								SO:0001589	frameshift_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3759_3774delAGATGCACCAACCTTA	chr4.hg19:g.114257900_114257915delAGATGCACCAACCTTA	ENSP00000349588:p.Gly1253fs		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL	ENST00000357077.4	hg19	CCDS3702.1																																																																																				0.38	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		-	114257915	AGATGCACCAACCTTA	-	114257900	7	5	657	1	0	1	0	1	0	0	0	0	621	291	11	0	3946	0	ANK2	4	114257900	Frame_Shift_Del	DEL	AGATGCACCAACCTTA	TCGA-G7-A8LD-01A-11D-A35Z-10		114257900	76896376	15	35716											
FSTL4	23105	hgsc.bcm.edu	37	5	132556553	132556553	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr5:132556553T>G	ENST00000265342.7	-	12	1594	c.1345A>C	c.(1345-1347)Agc>Cgc	p.S449R	FSTL4_ENST00000507112.1_5'UTR|CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	449						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCCCACGCTGAGGCCTGGG	0.562																																																0													110	98	102					5																	132556553		2203	4300	6503	SO:0001583	missense	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1345A>C	chr5.hg19:g.132556553T>G	ENSP00000265342:p.Ser449Arg		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	hg19	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057526	0.76074	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.60299	0.2	5.35	4.18	0.49190	.	0.079177	0.85682	D	0.000000	T	0.68311	0.2987	L	0.53249	1.67	0.54753	D	0.999988	D;D	0.89917	1.0;0.996	D;D	0.74348	0.983;0.943	T	0.67385	-0.5684	10	0.48119	T	0.1	-13.6265	10.6069	0.45400	0.0:0.0757:0.0:0.9243	.	449;98	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	R	449;280	ENSP00000265342:S449R	ENSP00000265342:S449R	S	-	1	0	FSTL4	132584452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.123000	0.50453	0.980000	0.38523	0.482000	0.46254	AGC		0.562	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		G	132556553	T	G	132556553	3	3	657	1	0	0	0	0	1	0	0	0	6081	1580	55	5	1203	5	FSTL4	5	132556553	Missense_Mutation	SNP	T	TCGA-G7-A8LD-01A-11D-A35Z-10		132556553	48358707	16	35717											
PCDHA9	9752	hgsc.bcm.edu	37	5	140229249	140229249	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr5:140229249C>T	ENST00000532602.1	+	1	2202	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.T390M|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	390	Cadherin 4. {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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCCTGACGCCCCACGTC	0.562																																					Melanoma(55;1800 1972 14909)											0													112	101	105					5																	140229249		2196	4274	6470	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1169C>T	chr5.hg19:g.140229249C>T	ENSP00000436042:p.Thr390Met		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	hg19	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837550	0.32513	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.53206	0.63;0.63	3.6	0.613	0.17597	Cadherin (4);Cadherin-like (1);	0.730603	0.10108	U	0.715048	T	0.25121	0.0610	L	0.29908	0.895	0.09310	N	1	P;B	0.44260	0.83;0.421	B;B	0.33254	0.16;0.034	T	0.12218	-1.0556	10	0.33141	T	0.24	.	2.2108	0.03947	0.2563:0.4568:0.1254:0.1615	.	390;390	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	390	ENSP00000436042:T390M;ENSP00000367362:T390M	ENSP00000367362:T390M	T	+	2	0	PCDHA9	140209433	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-2.560000	0.00921	-0.019000	0.14055	0.313000	0.20887	ACG		0.562	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		T	140229249	C	T	140229249	3	4	657	1	0	0	0	0	1	0	0	0	11533	536	19	1	1171	1	PCDHA9	5	140229249	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	7672696	140229249	40686011	17	35718											
ZNF184	7738	hgsc.bcm.edu	37	6	27419747	27419747	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr6:27419747C>G	ENST00000211936.6	-	6	1875	c.1591G>C	c.(1591-1593)Gaa>Caa	p.E531Q	ZNF184_ENST00000377419.1_Missense_Mutation_p.E531Q	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	531					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(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTTTACATTCATAAGCTTTC	0.383																																																0													65	67	66					6																	27419747		2203	4299	6502	SO:0001583	missense	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1591G>C	chr6.hg19:g.27419747C>G	ENSP00000211936:p.Glu531Gln		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	hg19	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347859	0.41599	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.35973	1.28;1.28	5.18	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000106	T	0.10337	0.0253	N	0.11341	0.13	0.19300	N	0.99997	P	0.42961	0.795	B	0.42138	0.377	T	0.05305	-1.0893	10	0.48119	T	0.1	.	8.7945	0.34872	0.1669:0.6716:0.1615:0.0	.	531	Q99676	ZN184_HUMAN	Q	531;531;447	ENSP00000211936:E531Q;ENSP00000366636:E531Q	ENSP00000211936:E531Q	E	-	1	0	ZNF184	27527726	0.000000	0.05858	1.000000	0.80357	0.988000	0.76386	-1.449000	0.02392	2.696000	0.92011	0.591000	0.81541	GAA		0.383	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		G	27419747	C	G	27419747	3	3	657	1	0	0	0	0	1	0	0	0	17756	835	29	4	668	4	ZNF184	6	27419747	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10		27419747	143695320	18	35719											
TAF8	129685	hgsc.bcm.edu	37	6	42025251	42025251	+	Splice_Site	SNP	G	G	A	rs554917914	byFrequency	TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr6:42025251G>A	ENST00000372977.3	+	5	507	c.489G>A	c.(487-489)ccG>ccA	p.P163P	TAF8_ENST00000494547.1_Splice_Site_p.P163P|TAF8_ENST00000482926.1_3'UTR|TAF8_ENST00000372982.4_Splice_Site_p.P163P|TAF8_ENST00000372978.3_Silent_p.P163P|TAF8_ENST00000456846.2_Splice_Site_p.P163P|TAF8_ENST00000465926.1_Splice_Site_p.P100P	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	163					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			TCAAAACTCCGGTGAGTGATG	0.572													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16681	0.0		0.0	False		,,,				2504	0.0															0													66	68	68					6																	42025251		2003	4177	6180	SO:0001630	splice_region_variant	129685			AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa", "taube nuss homolog (mouse)"	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.489+1G>A	chr6.hg19:g.42025251G>A			Q5T0K1|Q8N4R9|Q96M52	Silent	SNP	ENST00000372977.3	hg19	CCDS43462.1																																																																																				0.572	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1	NM_138572	Silent	A	42025251	G	A	42025251	5	1	657	1	0	0	0	0	0	0	1	0	15539	1130	39	1	507	1	TAF8	6	42025251	Splice_Site	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10	14605504	42025251	129089816	19	35720											
SERAC1	84947	hgsc.bcm.edu	37	6	158565380	158565380	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr6:158565380C>T	ENST00000367104.3	-	7	691	c.560G>A	c.(559-561)aGt>aAt	p.S187N	SERAC1_ENST00000367102.2_Missense_Mutation_p.S187N|SERAC1_ENST00000367101.1_Missense_Mutation_p.S187N	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	187					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GCGAAGATCACTCTCTTCGCT	0.328																																																0													85	87	87					6																	158565380		2203	4300	6503	SO:0001583	missense	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.560G>A	chr6.hg19:g.158565380C>T	ENSP00000356071:p.Ser187Asn		Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	hg19	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645153	0.47258	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.67865	-0.29;-0.29;-0.29	5.8	2.87	0.33458	Armadillo-like helical (1);	0.320817	0.37955	N	0.001871	T	0.38108	0.1028	L	0.44542	1.39	0.27038	N	0.964089	P	0.36465	0.554	B	0.30105	0.111	T	0.38478	-0.9659	10	0.56958	D	0.05	-16.1029	11.2274	0.48892	0.12:0.3136:0.5664:0.0	.	187	Q96JX3	SRAC1_HUMAN	N	187	ENSP00000356069:S187N;ENSP00000356071:S187N;ENSP00000356068:S187N	ENSP00000356068:S187N	S	-	2	0	SERAC1	158485368	0.990000	0.36364	0.998000	0.56505	0.997000	0.91878	1.940000	0.40223	2.227000	0.72691	0.460000	0.39030	AGT		0.328	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		T	158565380	C	T	158565380	3	4	657	1	0	0	0	0	1	0	0	0	14080	565	20	2	1448	2	SERAC1	6	158565380	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	116540129	158565380	12549687	20	35721											
DPY19L1	23333	hgsc.bcm.edu	37	7	34979806	34979806	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr7:34979806T>C	ENST00000310974.4	-	19	1748	c.1604A>G	c.(1603-1605)cAa>cGa	p.Q535R	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	535						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGTTCTTCTTGGGGCAAATT	0.328																																																0													75	61	65					7																	34979806		1804	4072	5876	SO:0001583	missense	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1604A>G	chr7.hg19:g.34979806T>C	ENSP00000308695:p.Gln535Arg		O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	hg19	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.210972	0.58343	.	.	ENSG00000173852	ENST00000310974	T	0.55930	0.49	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.84433	2.695	0.58432	D	0.999998	D	0.64830	0.994	D	0.76575	0.988	T	0.73075	-0.4097	10	0.24483	T	0.36	-10.8889	14.1743	0.65529	0.0:0.0:0.0:1.0	.	535	Q2PZI1	D19L1_HUMAN	R	535	ENSP00000308695:Q535R	ENSP00000308695:Q535R	Q	-	2	0	DPY19L1	34946331	1.000000	0.71417	0.990000	0.47175	0.069000	0.16628	7.972000	0.88022	2.009000	0.58944	0.482000	0.46254	CAA		0.328	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			C	34979806	T	C	34979806	3	2	657	1	0	0	0	0	1	0	0	0	4742	1812	63	3	439	3	DPY19L1	7	34979806	Missense_Mutation	SNP	T	TCGA-G7-A8LD-01A-11D-A35Z-10		34979806	124158857	21	35722											
ZNF713	349075	hgsc.bcm.edu	37	7	56007671	56007671	+	Missense_Mutation	SNP	G	G	A	rs371670199		TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr7:56007671G>A	ENST00000429591.2	+	4	1303	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAACTGTTCGCCACAGTCCT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		16485	0.0		0.001	False		,,,				2504	0.0															0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	46	48	47		1265	2.7	0	7		47	0,8600		0,0,4300	no	missense	ZNF713	NM_182633.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	422/431	56007671	1,13005	2203	4300	6503	SO:0001583	missense	349075			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1265G>A	chr7.hg19:g.56007671G>A	ENSP00000416662:p.Arg422His			Missense_Mutation	SNP	ENST00000429591.2	hg19	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	G	2.378	-0.342694	0.05243	2.27E-4	0.0	ENSG00000178665	ENST00000429591	T	0.06449	3.3	3.54	2.66	0.31614	.	0.625593	0.14282	N	0.329436	T	0.04679	0.0127	L	0.32530	0.975	0.09310	N	1	B	0.30824	0.296	B	0.22601	0.04	T	0.35871	-0.9771	10	0.72032	D	0.01	.	4.9192	0.13862	0.1194:0.2201:0.6605:0.0	.	422	Q8N859	ZN713_HUMAN	H	422	ENSP00000416662:R422H	ENSP00000416662:R422H	R	+	2	0	ZNF713	55975165	0.000000	0.05858	0.003000	0.11579	0.058000	0.15608	0.306000	0.19279	1.064000	0.40671	0.467000	0.42956	CGC		0.388	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		A	56007671	G	A	56007671	3	1	657	1	0	0	0	0	1	0	0	0	18122	1087	38	1	1279	1	ZNF713	7	56007671	Missense_Mutation	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10	21027865	56007671	103130992	22	35723											
MUC17	140453	hgsc.bcm.edu	37	7	100679220	100679220	+	Missense_Mutation	SNP	C	C	T	rs374713003		TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr7:100679220C>T	ENST00000306151.4	+	3	4587	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1508	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAATCTCAACGCCTAGTGAA	0.473																																																0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	209	197	201		4523	-0.1	0	7		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1508/4494	100679220	2,13004	2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4523C>T	chr7.hg19:g.100679220C>T	ENSP00000302716:p.Thr1508Met		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.032	-1.330977	0.01298	2.27E-4	1.16E-4	ENSG00000169876	ENST00000306151	T	0.03330	3.97	0.922	-0.0705	0.13747	.	.	.	.	.	T	0.04092	0.0114	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	P	0.53185	0.72	T	0.45454	-0.9260	9	0.32370	T	0.25	.	4.9293	0.13909	0.0:0.6094:0.3906:0.0	.	1508	Q685J3	MUC17_HUMAN	M	1508	ENSP00000302716:T1508M	ENSP00000302716:T1508M	T	+	2	0	MUC17	100465940	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.062000	0.14389	0.011000	0.14865	-1.865000	0.00557	ACG		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		T	100679220	C	T	100679220	3	4	657	1	0	0	0	0	1	0	0	0	9976	536	19	1	4533	1	MUC17	7	100679220	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	44671549	100679220	58459443	23	35724											
EPHB6	2051	hgsc.bcm.edu	37	7	142562074	142562074	+	Silent	SNP	C	C	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr7:142562074C>T	ENST00000392957.2	+	7	1303	c.516C>T	c.(514-516)tcC>tcT	p.S172S	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.S172S	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	172	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Poly-Ser.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					cctcctcctcctcttcttcct	0.622																																																0													83	98	93					7																	142562074		2200	4299	6499	SO:0001819	synonymous_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.516C>T	chr7.hg19:g.142562074C>T			A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	hg19	CCDS5873.2																																																																																				0.622	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			T	142562074	C	T	142562074	2	4	657	1	0	0	0	0	0	0	0	1	5180	668	24	2		2	EPHB6	7	142562074	Silent	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	41882854	142562074	16576589	24	35725											
DPP6	1804	hgsc.bcm.edu	37	7	154598747	154598747	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr7:154598747G>T	ENST00000377770.3	+	16	1732	c.1591G>T	c.(1591-1593)Gac>Tac	p.D531Y	DPP6_ENST00000332007.3_Missense_Mutation_p.D469Y|DPP6_ENST00000404039.1_Missense_Mutation_p.D467Y|DPP6_ENST00000427557.1_Missense_Mutation_p.D424Y			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	531					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCTCTCCTGTGACCTGGTTGA	0.592																																					NSCLC(125;1384 1783 2490 7422 34254)											0													138	142	141					7																	154598747		2134	4247	6381	SO:0001583	missense	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1591G>T	chr7.hg19:g.154598747G>T	ENSP00000367001:p.Asp531Tyr			Missense_Mutation	SNP	ENST00000377770.3	hg19		.	.	.	.	.	.	.	.	.	.	G	18.43	3.622636	0.66787	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.8	4.8	0.61643	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.243493	0.39759	N	0.001271	T	0.53722	0.1814	M	0.74258	2.255	0.58432	D	0.999999	P;P;D;D	0.59357	0.943;0.954;0.985;0.985	P;P;P;P	0.61477	0.886;0.823;0.889;0.889	T	0.60089	-0.7331	10	0.72032	D	0.01	-38.514	16.667	0.85255	0.0:0.0:1.0:0.0	.	424;469;531;467	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	Y	467;531;469;424	ENSP00000385578:D467Y;ENSP00000367001:D531Y;ENSP00000328226:D469Y;ENSP00000397303:D424Y	ENSP00000328226:D469Y	D	+	1	0	DPP6	154229680	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	8.294000	0.89934	2.177000	0.69029	0.655000	0.94253	GAC		0.592	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		T	154598747	G	T	154598747	3	4	657	1	0	0	0	0	1	0	0	0	4732	1290	45	4	1769	4	DPP6	7	154598747	Missense_Mutation	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10	12036673	154598747	4539916	25	35726											
RIMS2	9699	hgsc.bcm.edu	37	8	104924348	104924348	+	Missense_Mutation	SNP	G	G	A	rs375138135		TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr8:104924348G>A	ENST00000436393.2	+	4	1335	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	RIMS2_ENST00000262231.10_Missense_Mutation_p.R442H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R587H|RIMS2_ENST00000507740.1_Missense_Mutation_p.R395H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	665					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R395H(1)|p.R670H(1)|p.R365H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAATAAGCGTCTAAAAGAT	0.353										HNSCC(12;0.0054)																																						3	Substitution - Missense(3)	large_intestine(3)						G	HIS/ARG,HIS/ARG	1,3687		0,1,1843	119	116	117		1760,1184	5.9	1	8		117	1,8175		0,1,4087	no	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	29,29	0,2,5930	AA,AG,GG		0.0122,0.0271,0.0169	probably-damaging,probably-damaging	587/1350,395/1164	104924348	2,11862	1844	4088	5932	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1094G>A	chr8.hg19:g.104924348G>A	ENSP00000390665:p.Arg365His		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	hg19		.	.	.	.	.	.	.	.	.	.	G	35	5.445035	0.96187	2.71E-4	1.22E-4	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.21031	2.03;2.52;2.15;2.22;2.2;2.14;2.53	5.92	5.92	0.95590	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.44644	0.1303	L	0.49778	1.585	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.997;0.999;0.998;1.0	D;D;D;D;D	0.81914	0.977;0.977;0.992;0.98;0.995	T	0.14254	-1.0479	9	0.66056	D	0.02	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	665;365;442;395;587	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	H	587;618;587;665;395;442;395;395;365	ENSP00000427018:R587H;ENSP00000384892:R587H;ENSP00000425205:R395H;ENSP00000262231:R442H;ENSP00000423559:R395H;ENSP00000386228:R395H;ENSP00000390665:R365H	ENSP00000262231:R442H	R	+	2	0	RIMS2	104993524	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.833000	0.86765	2.822000	0.97130	0.650000	0.86243	CGT		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		A	104924348	G	A	104924348	3	1	657	1	0	0	0	0	1	0	0	0	13374	1145	40	1	1908	1	RIMS2	8	104924348	Missense_Mutation	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10		104924348	41439674	26	35727											
WDR67	93594	hgsc.bcm.edu	37	8	124109586	124109586	+	Silent	SNP	A	A	C			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr8:124109586A>C	ENST00000287380.1	+	6	826	c.736A>C	c.(736-738)Agg>Cgg	p.R246R	TBC1D31_ENST00000522420.1_Silent_p.R141R|TBC1D31_ENST00000327098.5_Silent_p.R246R|TBC1D31_ENST00000521676.1_Silent_p.R141R|TBC1D31_ENST00000378080.2_Silent_p.R141R|TBC1D31_ENST00000309336.3_Silent_p.R246R	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	246						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										CTTGGAAGCTAGGCAGCTCTT	0.423																																																0													131	118	122					8																	124109586		2203	4300	6503	SO:0001819	synonymous_variant	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.736A>C	chr8.hg19:g.124109586A>C			B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	ENST00000287380.1	hg19	CCDS6338.1																																																																																				0.423	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		C	124109586	A	C	124109586	2	2	657	1	0	0	0	0	0	0	0	1	17323	411	15	5		5	WDR67	8	124109586	Silent	SNP	A	TCGA-G7-A8LD-01A-11D-A35Z-10	19185238	124109586	22254436	27	35728											
MAMDC2	256691	hgsc.bcm.edu	37	9	72728040	72728040	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr9:72728040G>C	ENST00000377182.4	+	5	1252	c.635G>C	c.(634-636)aGt>aCt	p.S212T	MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	212	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ACCTTCAAGAGTGAACTGGGT	0.493																																																0													84	76	79					9																	72728040		2203	4300	6503	SO:0001583	missense	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.635G>C	chr9.hg19:g.72728040G>C	ENSP00000366387:p.Ser212Thr		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	hg19	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	7.048	0.563812	0.13498	.	.	ENSG00000165072	ENST00000377182	T	0.02140	4.43	5.72	2.73	0.32206	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.205916	0.64402	D	0.000017	T	0.01627	0.0052	N	0.24115	0.695	0.26934	N	0.966406	B	0.16603	0.018	B	0.20955	0.032	T	0.48175	-0.9058	10	0.06625	T	0.88	-7.9371	9.2328	0.37448	0.4469:0.0:0.5531:0.0	.	212	Q7Z304	MAMC2_HUMAN	T	212	ENSP00000366387:S212T	ENSP00000366387:S212T	S	+	2	0	MAMDC2	71917860	1.000000	0.71417	0.994000	0.49952	0.750000	0.42670	0.641000	0.24720	0.275000	0.22094	-0.379000	0.06801	AGT		0.493	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		C	72728040	G	C	72728040	3	2	657	1	0	0	0	0	1	0	0	0	9205	1029	36	4	653	4	MAMDC2	9	72728040	Missense_Mutation	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10		72728040	68485391	28	35729											
NOL8	55035	hgsc.bcm.edu	37	9	95077665	95077665	+	Silent	SNP	A	A	G			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr9:95077665A>G	ENST00000535387.1	-	6	1241	c.1242T>C	c.(1240-1242)aaT>aaC	p.N414N	NOL8_ENST00000358855.4_Silent_p.N346N|NOL8_ENST00000545558.1_Silent_p.N414N|NOL8_ENST00000442668.2_Silent_p.N414N|NOL8_ENST00000542053.1_Silent_p.N346N					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						AGTTTTCTCTATTTTTGAAAG	0.313																																																0													25	21	22					9																	95077665		1802	4054	5856	SO:0001819	synonymous_variant	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1242T>C	chr9.hg19:g.95077665A>G				Silent	SNP	ENST00000535387.1	hg19	CCDS47993.1																																																																																				0.313	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		G	95077665	A	G	95077665	2	3	657	1	0	0	0	0	0	0	0	1	10529	446	16	3		3	NOL8	9	95077665	Silent	SNP	A	TCGA-G7-A8LD-01A-11D-A35Z-10	22349625	95077665	46135766	29	35730											
KIAA1462	57608	hgsc.bcm.edu	37	10	30317816	30317816	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr10:30317816C>T	ENST00000375377.1	-	3	1362	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	421					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATGTACTGAACGAAGCCGTCA	0.517																																																0													76	80	78					10																	30317816		1946	4138	6084	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1261G>A	chr10.hg19:g.30317816C>T	ENSP00000364526:p.Val421Ile		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	hg19	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118022	0.37339	.	.	ENSG00000165757	ENST00000375377	T	0.16743	2.32	5.42	2.49	0.30216	.	0.321071	0.29900	N	0.010915	T	0.08980	0.0222	N	0.13327	0.33	0.32893	D	0.512148	D	0.60575	0.988	B	0.40636	0.335	T	0.22487	-1.0215	10	0.27785	T	0.31	-9.6829	10.3754	0.44079	0.0:0.7798:0.0:0.2202	.	421	Q9P266	K1462_HUMAN	I	421	ENSP00000364526:V421I	ENSP00000364526:V421I	V	-	1	0	KIAA1462	30357822	0.030000	0.19436	0.038000	0.18304	0.183000	0.23260	0.262000	0.18460	0.645000	0.30675	0.561000	0.74099	GTT		0.517	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		T	30317816	C	T	30317816	3	4	657	1	0	0	0	0	1	0	0	0	8236	536	19	1	2826	1	KIAA1462	10	30317816	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10		30317816	105216931	30	35731											
PARD3	56288	hgsc.bcm.edu	37	10	34673133	34673133	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr10:34673133G>A	ENST00000374789.3	-	8	1265	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	PARD3_ENST00000544292.1_Missense_Mutation_p.H44Y|PARD3_ENST00000340077.5_Missense_Mutation_p.H314Y|PARD3_ENST00000374776.1_Missense_Mutation_p.H314Y|PARD3_ENST00000374790.3_Missense_Mutation_p.H270Y|PARD3_ENST00000374773.1_Missense_Mutation_p.H314Y|PARD3_ENST00000545693.1_Missense_Mutation_p.H314Y|PARD3_ENST00000350537.4_Missense_Mutation_p.H314Y|PARD3_ENST00000545260.1_Missense_Mutation_p.H270Y|PARD3_ENST00000374788.3_Missense_Mutation_p.H314Y|PARD3_ENST00000346874.4_Missense_Mutation_p.H314Y|PARD3_ENST00000374794.3_Missense_Mutation_p.H270Y	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	314	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AGATTTTCATGTTCAGCTTTA	0.388																																																0													180	160	167					10																	34673133		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.940C>T	chr10.hg19:g.34673133G>A	ENSP00000363921:p.His314Tyr		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	hg19	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256229	0.59321	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.68	5.68	0.88126	PDZ/DHR/GLGF (3);	0.290697	0.40554	N	0.001075	T	0.19805	0.0476	N	0.08118	0	0.28529	N	0.91269	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.22541	0.017;0.028;0.019;0.017;0.019;0.017;0.017;0.01;0.01;0.01;0.059;0.071;0.008;0.017	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.28849	0.051;0.049;0.051;0.095;0.095;0.051;0.095;0.007;0.044;0.044;0.095;0.028;0.095;0.095	T	0.26849	-1.0091	10	0.87932	D	0	.	20.1615	0.98135	0.0:0.0:1.0:0.0	.	270;270;314;314;314;314;314;314;270;314;314;314;314;44	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.	Y	314;270;314;314;314;270;314;270;314;314;314;44	ENSP00000443147:H314Y;ENSP00000440857:H270Y;ENSP00000363921:H314Y;ENSP00000363920:H314Y;ENSP00000340591:H314Y;ENSP00000363926:H270Y;ENSP00000311986:H314Y;ENSP00000363922:H270Y;ENSP00000363908:H314Y;ENSP00000341844:H314Y;ENSP00000363905:H314Y;ENSP00000444429:H44Y	ENSP00000341844:H314Y	H	-	1	0	PARD3	34713139	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.220000	0.78008	2.835000	0.97688	0.650000	0.86243	CAT		0.388	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		A	34673133	G	A	34673133	3	1	657	1	0	0	0	0	1	0	0	0	11445	1377	48	2	3237	2	PARD3	10	34673133	Missense_Mutation	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10	4355317	34673133	100861614	31	35732											
FGF4	2249	hgsc.bcm.edu	37	11	69588117	69588117	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr11:69588117G>A	ENST00000168712.1	-	3	899	c.581C>T	c.(580-582)tCg>tTg	p.S194L	AP001888.1_ENST00000602104.1_5'Flank|FGF4_ENST00000538040.1_5'UTR	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	194					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	CATGGTGGGCGACACTCGGTT	0.612																																																0													178	149	159					11																	69588117		2200	4294	6494	SO:0001583	missense	2249			M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"Endogenous ligands"	3682	protein-coding gene	gene with protein product	"human stomach cancer, transforming factor from FGF-related oncogene", "kaposi sarcoma oncogene", "transforming protein KS3"	164980	"heparin secretory transforming protein 1"	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.581C>T	chr11.hg19:g.69588117G>A	ENSP00000168712:p.Ser194Leu		B7U994	Missense_Mutation	SNP	ENST00000168712.1	hg19	CCDS8194.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788207	0.90367	.	.	ENSG00000075388	ENST00000168712	D	0.81659	-1.52	5.81	5.81	0.92471	.	0.000000	0.41194	D	0.000936	D	0.90082	0.6902	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.89179	0.3542	9	.	.	.	.	20.074	0.97736	0.0:0.0:1.0:0.0	.	194	P08620	FGF4_HUMAN	L	194	ENSP00000168712:S194L	.	S	-	2	0	FGF4	69297298	1.000000	0.71417	0.948000	0.38648	0.350000	0.29205	9.026000	0.93700	2.746000	0.94184	0.655000	0.94253	TCG		0.612	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396834.2	NM_002007		A	69588117	G	A	69588117	3	1	657	1	0	0	0	0	1	0	0	0	5856	1059	37	1	43	1	FGF4	11	69588117	Missense_Mutation	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10		69588117	65418399	32	35733											
MAML2	84441	hgsc.bcm.edu	37	11	95825257	95825257	+	Silent	SNP	T	T	C	rs575986134	byFrequency	TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr11:95825257T>C	ENST00000524717.1	-	2	3222	c.1938A>G	c.(1936-1938)caA>caG	p.Q646Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	646					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgttgttgctgct	0.517			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								T|||	5	0.000998403	0.0	0.0	5008	,	,		17451	0.005		0.0	False		,,,				2504	0.0						Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													37	42	40					11																	95825257		2095	4114	6209	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1938A>G	chr11.hg19:g.95825257T>C			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	hg19	CCDS44714.1																																																																																				0.517	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			C	95825257	T	C	95825257	2	2	657	1	0	0	0	0	0	0	0	1	9208	1722	60	3		3	MAML2	11	95825257	Silent	SNP	T	TCGA-G7-A8LD-01A-11D-A35Z-10	26237140	95825257	39181259	33	35734											
AVPR1A	552	hgsc.bcm.edu	37	12	63544413	63544413	+	Silent	SNP	G	G	C			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr12:63544413G>C	ENST00000299178.2	-	1	309	c.204C>G	c.(202-204)ggC>ggG	p.G68G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	68					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CGCTGCTGTTGCCCAGCACGG	0.682																																																0													32	29	30					12																	63544413		2203	4298	6501	SO:0001819	synonymous_variant	552			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.204C>G	chr12.hg19:g.63544413G>C				Silent	SNP	ENST00000299178.2	hg19	CCDS8965.1																																																																																				0.682	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			C	63544413	G	C	63544413	2	2	657	1	0	0	0	0	0	0	0	1	1231	1306	46	4		4	AVPR1A	12	63544413	Silent	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10		63544413	70307482	34	35735											
SPERT	220082	hgsc.bcm.edu	37	13	46287523	46287523	+	Silent	SNP	G	G	A			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr13:46287523G>A	ENST00000310521.1	+	3	443	c.363G>A	c.(361-363)gtG>gtA	p.V121V	SPERT_ENST00000378966.3_Silent_p.V85V	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	121						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCCGCGGGTGCAGCTCAGCG	0.627																																																0													63	67	66					13																	46287523		2203	4300	6503	SO:0001819	synonymous_variant	220082			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.363G>A	chr13.hg19:g.46287523G>A			A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	hg19	CCDS9399.1																																																																																				0.627	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		A	46287523	G	A	46287523	2	1	657	1	0	0	0	0	0	0	0	1	15044	1306	46	2		2	SPERT	13	46287523	Silent	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10		46287523	68882355	35	35736											
KCNJ12	3768	hgsc.bcm.edu	37	17	21318791	21318791	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr17:21318791T>A	ENST00000583088.1	+	3	1032	c.137T>A	c.(136-138)tTc>tAc	p.F46Y	KCNJ12_ENST00000331718.5_Missense_Mutation_p.F46Y	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	46					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CGCAACCGCTTCGTCAAGAAG	0.612										Prostate(3;0.18)																																						0													151	107	122					17																	21318791		2203	4300	6503	SO:0001583	missense	100134444			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.137T>A	chr17.hg19:g.21318791T>A	ENSP00000463778:p.Phe46Tyr		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	hg19	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.075785	0.76415	.	.	ENSG00000184185	ENST00000331718	T	0.60424	0.19	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.69669	-0.5083	10	0.23891	T	0.37	.	15.3028	0.73966	0.0:0.0:0.0:1.0	.	46	Q14500	IRK12_HUMAN	Y	46	ENSP00000328150:F46Y	ENSP00000328150:F46Y	F	+	2	0	KCNJ12	21259384	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.898000	0.87363	2.027000	0.59764	0.482000	0.46254	TTC		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		A	21318791	T	A	21318791	3	1	657	1	0	0	0	0	1	0	0	0	8048	1783	62	5	139	5	KCNJ12	17	21318791	Missense_Mutation	SNP	T	TCGA-G7-A8LD-01A-11D-A35Z-10		21318791	59876419	36	35737											
MYO9B	4650	hgsc.bcm.edu	37	19	17305947	17305947	+	Silent	SNP	G	G	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr19:17305947G>T	ENST00000594824.1	+	22	3858	c.3711G>T	c.(3709-3711)acG>acT	p.T1237T	MYO9B_ENST00000397274.2_Silent_p.T1237T|MYO9B_ENST00000595618.1_Silent_p.T1237T			Q13459	MYO9B_HUMAN	myosin IXB	1237	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGAGAAGACGCTGCCCAGTG	0.647																																																0													20	26	25					19																	17305947		1929	4131	6060	SO:0001819	synonymous_variant	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3711G>T	chr19.hg19:g.17305947G>T			O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	hg19																																																																																					0.647	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			T	17305947	G	T	17305947	2	4	657	1	0	0	0	0	0	0	0	1	10087	1074	38	4		4	MYO9B	19	17305947	Silent	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10		17305947	41823036	37	35738											
DMKN	93099	hgsc.bcm.edu	37	19	36004269	36004269	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr19:36004269C>T	ENST00000339686.3	-	1	285	c.109G>A	c.(109-111)Gag>Aag	p.E37K	DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.E37K|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.E37K|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.E37K|DMKN_ENST00000451297.2_Missense_Mutation_p.E37K|DMKN_ENST00000418261.1_Missense_Mutation_p.E37K|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000429837.1_Missense_Mutation_p.E37K|DMKN_ENST00000447113.2_Missense_Mutation_p.E37K|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000392206.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	37	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAAGGGCCTCCCCAATATTT	0.667																																																0													56	60	59					19																	36004269		2203	4300	6503	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.109G>A	chr19.hg19:g.36004269C>T	ENSP00000342012:p.Glu37Lys		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	hg19	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719708	0.68844	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.19105	2.67;2.45;2.43;2.18;2.19;2.18;2.19;2.17	4.37	3.31	0.37934	.	.	.	.	.	T	0.37652	0.1011	L	0.59436	1.845	0.09310	N	1	D;P;P;D;D;D;D	0.58268	0.982;0.811;0.811;0.982;0.965;0.965;0.982	P;P;P;P;P;P;P	0.60789	0.82;0.879;0.879;0.82;0.709;0.709;0.82	T	0.11397	-1.0589	9	0.72032	D	0.01	-6.5769	11.2325	0.48920	0.1848:0.8152:0.0:0.0	.	37;37;37;37;37;37;37	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	K	37	ENSP00000342012:E37K;ENSP00000405503:E37K;ENSP00000391036:E37K;ENSP00000394908:E37K;ENSP00000415277:E37K;ENSP00000414743:E37K;ENSP00000388404:E37K;ENSP00000409513:E37K	ENSP00000342012:E37K	E	-	1	0	DMKN	40696109	0.530000	0.26330	0.096000	0.21009	0.111000	0.19643	3.083000	0.50136	0.811000	0.34303	0.491000	0.48974	GAG		0.667	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		T	36004269	C	T	36004269	3	4	657	1	0	0	0	0	1	0	0	0	4584	864	30	2	1702	2	DMKN	19	36004269	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	18698322	36004269	23124714	38	35739											
PRMT1	3276	hgsc.bcm.edu	37	19	50185321	50185321	+	Splice_Site	SNP	G	G	A			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr19:50185321G>A	ENST00000391851.4	+	3	422	c.293G>A	c.(292-294)gGg>gAg	p.G98E	MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Splice_Site_p.G70E|PRMT1_ENST00000454376.2_Splice_Site_p.G116E	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	106	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		AAGGTCATCGGGGTGAGTCTC	0.677																																																0													35	39	38					19																	50185321		2202	4299	6501	SO:0001630	splice_region_variant	3276			D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.294+1G>A	chr19.hg19:g.50185321G>A			B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	ENST00000391851.4	hg19	CCDS42592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.278157|4.278157	0.80692|0.80692	.|.	.|.	ENSG00000126457|ENSG00000126457	ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000529836;ENST00000526224;ENST00000527412|ENST00000524771	T;T;T;T;T;T;T;T;T|T	0.43294|0.43688	0.95;0.95;0.95;0.95;0.95;0.95;1.26;0.95;1.26|0.94	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78272|0.78272	0.4257|0.4257	H|H	0.98525|0.98525	4.255|4.255	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999|.	D;D;D;D|.	0.76575|.	0.988;0.984;0.972;0.972|.	D|D	0.86699|0.86699	0.1928|0.1928	10|8	0.87932|0.87932	D|D	0|0	0.0459|0.0459	15.9171|15.9171	0.79527|0.79527	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	106;70;98;92|.	Q99873;E9PKG1;G5E9B6;Q99873-2|.	ANM1_HUMAN;.;.;.|.	E|R	70;70;70;70;98;92;116;92;70;95|126	ENSP00000432349:G70E;ENSP00000433556:G70E;ENSP00000432538:G70E;ENSP00000431957:G70E;ENSP00000375724:G98E;ENSP00000406162:G116E;ENSP00000437273:G92E;ENSP00000432788:G70E;ENSP00000436732:G95E|ENSP00000433480:G126R	ENSP00000375724:G98E|ENSP00000433480:G126R	G|G	+|+	2|1	0|0	PRMT1|PRMT1	54877133|54877133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.455000|0.455000	0.32408|0.32408	9.271000|9.271000	0.95698|0.95698	2.629000|2.629000	0.89072|0.89072	0.643000|0.643000	0.83706|0.83706	GGG|GGA		0.677	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536	Missense_Mutation	A	50185321	G	A	50185321	5	1	657	1	0	0	0	0	0	0	1	0	12540	1246	43	2	361	2	PRMT1	19	50185321	Splice_Site	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10	14181052	50185321	8943662	39	35740											
ZNF816A	125893	hgsc.bcm.edu	37	19	53453491	53453491	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr19:53453491C>G	ENST00000357666.4	-	5	1837	c.1537G>C	c.(1537-1539)Gaa>Caa	p.E513Q	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.E513Q	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TTGTCACATTCTTCACATTTG	0.388																																																0													104	106	105					19																	53453491		2203	4300	6503	SO:0001583	missense	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1537G>C	chr19.hg19:g.53453491C>G	ENSP00000350295:p.Glu513Gln		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	hg19	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	10.66	1.412249	0.25465	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.07444	3.19;3.19	1.85	-1.03	0.10102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08802	0.0218	N	0.04746	-0.17	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.36407	-0.9749	9	0.36615	T	0.2	.	5.6179	0.17442	0.0:0.6528:0.2006:0.1466	.	513	Q0VGE8	ZN816_HUMAN	Q	513	ENSP00000350295:E513Q;ENSP00000403266:E513Q	ENSP00000350295:E513Q	E	-	1	0	ZNF816	58145303	0.000000	0.05858	0.013000	0.15412	0.291000	0.27294	-0.583000	0.05807	0.106000	0.17784	0.313000	0.20887	GAA		0.388	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		G	53453491	C	G	53453491	3	3	657	1	0	0	0	0	1	0	0	0	18182	922	32	4	422	4	ZNF816A	19	53453491	Missense_Mutation	SNP	C	TCGA-G7-A8LD-01A-11D-A35Z-10	3268170	53453491	5675492	40	35741											
NLRP4	147945	hgsc.bcm.edu	37	19	56388499	56388499	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr19:56388499T>C	ENST00000301295.6	+	8	3085	c.2663T>C	c.(2662-2664)cTg>cCg	p.L888P	NLRP4_ENST00000587891.1_Missense_Mutation_p.L813P|NLRP4_ENST00000346986.5_Missense_Mutation_p.L832P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	888					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTCGGGCTCTGACGCATACG	0.493																																																0													203	192	196					19																	56388499		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2663T>C	chr19.hg19:g.56388499T>C	ENSP00000301295:p.Leu888Pro		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	hg19	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477580	0.44044	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.71103	-0.02;-0.54	3.91	3.91	0.45181	.	.	.	.	.	D	0.86928	0.6051	H	0.94222	3.51	0.19300	N	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.991;0.979	T	0.77395	-0.2604	9	0.87932	D	0	.	9.35	0.38131	0.0:0.0:0.0:1.0	.	832;813;888	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	P	888;832	ENSP00000301295:L888P;ENSP00000344787:L832P	ENSP00000301295:L888P	L	+	2	0	NLRP4	61080311	0.059000	0.20769	0.007000	0.13788	0.014000	0.08584	3.482000	0.53186	1.783000	0.52377	0.477000	0.44152	CTG		0.493	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		C	56388499	T	C	56388499	3	2	657	1	0	0	0	0	1	0	0	0	10481	1580	55	3	2689	3	NLRP4	19	56388499	Missense_Mutation	SNP	T	TCGA-G7-A8LD-01A-11D-A35Z-10	2935008	56388499	2740484	41	35742											
LRRN4	164312	hgsc.bcm.edu	37	20	6031523	6031523	+	Missense_Mutation	SNP	G	G	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr20:6031523G>T	ENST00000378858.4	-	3	986	c.762C>A	c.(760-762)aaC>aaA	p.N254K		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	254					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GCTGCTGCAGGTTGGGGGTCA	0.552																																																0													133	123	127					20																	6031523		2203	4300	6503	SO:0001583	missense	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.762C>A	chr20.hg19:g.6031523G>T	ENSP00000368135:p.Asn254Lys		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	hg19	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001798	0.35320	.	.	ENSG00000125872	ENST00000378858	T	0.56444	0.46	5.68	2.15	0.27550	.	0.506545	0.19230	N	0.119428	T	0.41834	0.1176	L	0.41632	1.29	0.24473	N	0.994383	B;B	0.30146	0.27;0.027	B;B	0.34931	0.192;0.034	T	0.29579	-1.0007	10	0.36615	T	0.2	-7.2773	7.64	0.28288	0.1127:0.472:0.4153:0.0	.	254;254	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	K	254	ENSP00000368135:N254K	ENSP00000368135:N254K	N	-	3	2	LRRN4	5979523	0.000000	0.05858	0.617000	0.29091	0.888000	0.51559	-0.500000	0.06405	0.740000	0.32651	0.491000	0.48974	AAC		0.552	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		T	6031523	G	T	6031523	3	4	657	1	0	0	0	0	1	0	0	0	9039	1252	44	4	1472	4	LRRN4	20	6031523	Missense_Mutation	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10		6031523	56993997	42	35743											
CD93	22918	hgsc.bcm.edu	37	20	23065706	23065706	+	Missense_Mutation	SNP	G	G	A	rs139005135		TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr20:23065706G>A	ENST00000246006.4	-	1	1271	c.1124C>T	c.(1123-1125)cCg>cTg	p.P375L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	375	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGGACCGCCCGGCTCATAGCC	0.632																																																0								G	LEU/PRO	0,4406		0,0,2203	41	43	42		1124	3.9	0.2	20	dbSNP_134	42	2,8598	2.2+/-6.3	0,2,4298	no	missense	CD93	NM_012072.3	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	375/653	23065706	2,13004	2203	4300	6503	SO:0001583	missense	22918			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1124C>T	chr20.hg19:g.23065706G>A	ENSP00000246006:p.Pro375Leu		O00274	Missense_Mutation	SNP	ENST00000246006.4	hg19	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	4.744	0.138295	0.09083	0.0	2.33E-4	ENSG00000125810	ENST00000246006	T	0.20332	2.08	4.89	3.94	0.45596	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.203167	0.34879	N	0.003614	T	0.07324	0.0185	N	0.02158	-0.66	0.09310	N	0.999998	B	0.18968	0.032	B	0.09377	0.004	T	0.30966	-0.9960	10	0.22109	T	0.4	-10.0711	9.2402	0.37491	0.1733:0.0:0.8267:0.0	.	375	Q9NPY3	C1QR1_HUMAN	L	375	ENSP00000246006:P375L	ENSP00000246006:P375L	P	-	2	0	CD93	23013706	0.010000	0.17322	0.222000	0.23844	0.169000	0.22640	1.721000	0.38032	1.423000	0.47198	0.650000	0.86243	CCG		0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		A	23065706	G	A	23065706	3	1	657	1	0	0	0	0	1	0	0	0	3049	1116	39	1	842	1	CD93	20	23065706	Missense_Mutation	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10	17034183	23065706	39959814	43	35744											
SIM2	6493	hgsc.bcm.edu	37	21	38115795	38115795	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr21:38115795T>C	ENST00000290399.6	+	9	1719	c.1106T>C	c.(1105-1107)tTa>tCa	p.L369S	SIM2_ENST00000430056.3_Missense_Mutation_p.L369S	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	369	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						ACTAGGAAATTAGTGAAACCC	0.498																																																0													166	164	164					21																	38115795		2203	4300	6503	SO:0001583	missense	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1106T>C	chr21.hg19:g.38115795T>C	ENSP00000290399:p.Leu369Ser		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	hg19	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	T	0.039	-1.293915	0.01375	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.24723	1.84;1.84	4.43	2.05	0.26809	Single-minded, C-terminal (2);	1.087690	0.07148	N	0.848635	T	0.10852	0.0265	N	0.04508	-0.205	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.004;0.002	T	0.32534	-0.9903	10	0.08837	T	0.75	.	7.0238	0.24928	0.0:0.3703:0.0:0.6297	.	369;369	Q14190;Q14190-2	SIM2_HUMAN;.	S	369	ENSP00000290399:L369S;ENSP00000404176:L369S	ENSP00000290399:L369S	L	+	2	0	SIM2	37037665	0.999000	0.42202	0.232000	0.24009	0.491000	0.33493	1.380000	0.34351	0.659000	0.30945	0.334000	0.21626	TTA		0.498	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		C	38115795	T	C	38115795	3	2	657	1	0	0	0	0	1	0	0	0	14330	1764	61	3	1140	3	SIM2	21	38115795	Missense_Mutation	SNP	T	TCGA-G7-A8LD-01A-11D-A35Z-10		38115795	10014100	44	35745											
PCNT	5116	hgsc.bcm.edu	37	21	47831608	47831608	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chr21:47831608A>G	ENST00000359568.5	+	28	5728	c.5621A>G	c.(5620-5622)aAt>aGt	p.N1874S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1874					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCCGAGAGAAATTTAGAAATC	0.622																																																0													30	34	33					21																	47831608		2196	4292	6488	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5621A>G	chr21.hg19:g.47831608A>G	ENSP00000352572:p.Asn1874Ser		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545363	0.45280	.	.	ENSG00000160299	ENST00000359568	T	0.01464	4.86	5.07	5.07	0.68467	.	0.489448	0.15283	N	0.270570	T	0.01287	0.0042	N	0.08118	0	0.20764	N	0.99985	B;B	0.25272	0.122;0.074	B;B	0.21708	0.036;0.016	T	0.50600	-0.8809	10	0.13108	T	0.6	.	13.4209	0.60996	1.0:0.0:0.0:0.0	.	1756;1874	O95613-2;O95613	.;PCNT_HUMAN	S	1874	ENSP00000352572:N1874S	ENSP00000352572:N1874S	N	+	2	0	PCNT	46656036	0.995000	0.38212	0.015000	0.15790	0.019000	0.09904	2.831000	0.48144	2.219000	0.72066	0.533000	0.62120	AAT		0.622	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		G	47831608	A	G	47831608	3	3	657	1	0	0	0	0	1	0	0	0	11592	101	4	3	5731	3	PCNT	21	47831608	Missense_Mutation	SNP	A	TCGA-G7-A8LD-01A-11D-A35Z-10	9715813	47831608	298287	45	35746											
AR	367	hgsc.bcm.edu	37	X	66765164	66765164	+	Missense_Mutation	SNP	A	A	T			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chrX:66765164A>T	ENST00000374690.3	+	1	700	c.176A>T	c.(175-177)cAg>cTg	p.Q59L	AR_ENST00000504326.1_Missense_Mutation_p.Q59L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q59L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	59	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTgcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																																							0													7	10	9					X																	66765164		2055	4063	6118	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.176A>T	chrX.hg19:g.66765164A>T	ENSP00000363822:p.Gln59Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.901651	0.33535	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69175	-0.38;-0.38;-0.38	.	.	.	.	1.117170	0.06949	N	0.814177	T	0.47060	0.1425	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.31724	-0.9933	8	0.13108	T	0.6	.	.	.	.	.	59;59	E7EVX6;D3YPQ2	.;.	L	59	ENSP00000363822:Q59L;ENSP00000421155:Q59L;ENSP00000379359:Q59L	ENSP00000363822:Q59L	Q	+	2	0	AR	66681889	0.995000	0.38212	0.864000	0.33941	0.503000	0.33858	0.245000	0.18142	0.000000	0.14550	0.000000	0.15137	CAG		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		T	66765164	A	T	66765164	3	4	657	1	0	0	0	0	1	0	0	0	836	188	7	5	178	5	AR	23	66765164	Missense_Mutation	SNP	A	TCGA-G7-A8LD-01A-11D-A35Z-10		66765164	88505396	46	35747			1	60		2	2	59	N	GC_A	8.992788e-05
AR	367	hgsc.bcm.edu	37	X	66765222	66765223	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chrX:66765222_66765223GC>AG	ENST00000374690.3	+	1	758_759	c.234_235GC>AG	c.(232-237)caGCag>caAGag	p.Q79E	AR_ENST00000504326.1_Missense_Mutation_p.Q79E|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q79E	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	78	Gln-rich.|Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	agcagcagcagcagcaagagac	0.653									Androgen Insensitivity Syndrome																																							0																																										SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	Exception_encountered	chrX.hg19:g.66765222_66765223delinsAG	ENSP00000363822:p.Gln79Glu		A2RUN2|B1AKD7|Q9UD95	Silent|Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1																																																																																				0.653	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		AG	66765223	GC	AG	66765222	3	1	657	1	0	0	0	0	1	0	0	0	836	962	34	2	236	2	AR	23	66765222	Missense_Mutation	DNP	GC	TCGA-G7-A8LD-01A-11D-A35Z-10	58	66765222	88505338	47	35748			1	60		2	2	59	N	GC_A	8.992788e-05
SMARCA1	6594	hgsc.bcm.edu	37	X	128652406	128652406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G7-A8LD-01A-11D-A35Z-10	TCGA-G7-A8LD-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	755a9884-f632-4260-bf9d-a84b5d86aa87	632fa524-d179-4f7e-9cbc-b57a32d1fb38	g.chrX:128652406G>A	ENST00000371122.4	-	2	322	c.193C>T	c.(193-195)Caa>Taa	p.Q65*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Q65*|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Q65*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	65					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						AGTTTGAGTTGAAATGAAGAA	0.358																																																0													92	79	83					X																	128652406		2202	4299	6501	SO:0001587	stop_gained	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.193C>T	chrX.hg19:g.128652406G>A	ENSP00000360163:p.Gln65*		Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	hg19	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	36	5.879507	0.97062	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.13	5.13	0.70059	.	0.574317	0.14333	N	0.326218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-2.2867	12.401	0.55412	0.0:0.1644:0.8356:0.0	.	.	.	.	X	65;65;65;44	.	ENSP00000360162:Q65X	Q	-	1	0	SMARCA1	128480087	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	5.851000	0.69481	2.092000	0.63282	0.513000	0.50165	CAA		0.358	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		A	128652406	G	A	128652406	4	1	657	1	0	0	0	0	0	1	0	0	14774	1299	45	2	3063	2	SMARCA1	23	128652406	Nonsense_Mutation	SNP	G	TCGA-G7-A8LD-01A-11D-A35Z-10	61887184	128652406	26618154	48	35749											
MTHFR	4524	hgsc.bcm.edu	37	1	11854058	11854058	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr1:11854058A>G	ENST00000376592.1	-	8	1564	c.1436T>C	c.(1435-1437)aTc>aCc	p.I479T	MTHFR_ENST00000376585.1_Missense_Mutation_p.I520T|MTHFR_ENST00000376583.3_Missense_Mutation_p.I520T|MTHFR_ENST00000376590.3_Missense_Mutation_p.I479T			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	479					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GATGGTGAGGATGCCCTGGCG	0.652																																																0													98	102	100					1																	11854058		2203	4300	6503	SO:0001583	missense	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1436T>C	chr1.hg19:g.11854058A>G	ENSP00000365777:p.Ile479Thr		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	hg19	CCDS137.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660655	0.67586	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.71	4.71	0.59529	.	0.162118	0.56097	D	0.000037	T	0.68860	0.3047	M	0.81497	2.545	0.54753	D	0.999986	B;P	0.43938	0.072;0.822	B;B	0.40477	0.09;0.33	T	0.75605	-0.3260	10	0.72032	D	0.01	.	13.3979	0.60865	1.0:0.0:0.0:0.0	.	479;520	P42898;Q5SNW6	MTHR_HUMAN;.	T	479;520;479;520	ENSP00000365777:I479T;ENSP00000365767:I520T;ENSP00000365775:I479T;ENSP00000365770:I520T	ENSP00000365767:I520T	I	-	2	0	MTHFR	11776645	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.832000	0.92079	1.771000	0.52183	0.379000	0.24179	ATC		0.652	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		G	11854058	A	G	11854058	3	3	658	1	0	0	0	0	1	0	0	0	9933	333	12	3	550	3	MTHFR	1	11854058	Missense_Mutation	SNP	A	TCGA-G7-A8LE-01A-11D-A35Z-10		11854058	237396563	1	35750											
GJB3	2707	hgsc.bcm.edu	37	1	35251060	35251060	+	Missense_Mutation	SNP	G	G	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr1:35251060G>A	ENST00000373366.2	+	2	1312	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	GJB3_ENST00000373362.3_Missense_Mutation_p.A233T|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	233					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTCGTCCTCCGCCAGCCGAGC	0.632																																																0													31	31	31					1																	35251060		2202	4300	6502	SO:0001583	missense	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.697G>A	chr1.hg19:g.35251060G>A	ENSP00000362464:p.Ala233Thr		B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	hg19	CCDS384.1	.	.	.	.	.	.	.	.	.	.	G	2.744	-0.261542	0.05791	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.97752	-4.52;-4.52	5.03	-10.1	0.00402	.	2.095770	0.02337	N	0.074477	D	0.91009	0.7172	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.83820	0.0246	10	0.12430	T	0.62	.	10.795	0.46455	0.0789:0.0641:0.538:0.319	.	233	O75712	CXB3_HUMAN	T	233;233;217	ENSP00000362464:A233T;ENSP00000362460:A233T	ENSP00000362460:A233T	A	+	1	0	GJB3	35023647	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.581000	0.05820	-3.943000	0.00089	-2.233000	0.00290	GCC		0.632	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		A	35251060	G	A	35251060	3	1	658	1	0	0	0	0	1	0	0	0	6411	1087	38	1	699	1	GJB3	1	35251060	Missense_Mutation	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10	23397002	35251060	213999561	2	35751											
DNM3	26052	hgsc.bcm.edu	37	1	172017810	172017810	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr1:172017810A>C	ENST00000355305.5	+	10	1412	c.1255A>C	c.(1255-1257)Aag>Cag	p.K419Q	DNM3_ENST00000520906.1_Missense_Mutation_p.K419Q|DNM3_ENST00000367731.1_Missense_Mutation_p.K419Q|DNM3_ENST00000358155.4_Missense_Mutation_p.K419Q|DNM3_ENST00000367733.2_Missense_Mutation_p.K419Q			Q9UQ16	DYN3_HUMAN	dynamin 3	419					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACAGATTGTAAAGTTGAAAGG	0.368																																																0													119	116	117					1																	172017810		1868	4101	5969	SO:0001583	missense	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1255A>C	chr1.hg19:g.172017810A>C	ENSP00000347457:p.Lys419Gln		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	hg19		.	.	.	.	.	.	.	.	.	.	A	21.2	4.107156	0.77096	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.58669	1.825	0.54753	D	0.999988	B;P;B;B	0.36712	0.04;0.566;0.389;0.04	B;B;B;B	0.35278	0.199;0.198;0.198;0.14	T	0.60974	-0.7156	10	0.37606	T	0.19	.	15.0317	0.71713	1.0:0.0:0.0:0.0	.	419;419;419;419	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	Q	419;419;419;419;419;419;309	ENSP00000350876:K419Q;ENSP00000356707:K419Q;ENSP00000347457:K419Q;ENSP00000356705:K419Q;ENSP00000429701:K419Q;ENSP00000429416:K309Q	ENSP00000347457:K419Q	K	+	1	0	DNM3	170284433	1.000000	0.71417	0.969000	0.41365	0.792000	0.44763	9.287000	0.95975	2.137000	0.66172	0.460000	0.39030	AAG		0.368	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		C	172017810	A	C	172017810	3	2	658	1	0	0	0	0	1	0	0	0	4675	15	1	5	1293	5	DNM3	1	172017810	Missense_Mutation	SNP	A	TCGA-G7-A8LE-01A-11D-A35Z-10	136766750	172017810	77232811	3	35752											
PNPT1	87178	hgsc.bcm.edu	37	2	55863466	55863466	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr2:55863466T>C	ENST00000447944.2	-	28	2344	c.2258A>G	c.(2257-2259)cAg>cGg	p.Q753R		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	753					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCTGGCGACTGAAGCACTTT	0.403																																																0													95	85	88					2																	55863466		2203	4300	6503	SO:0001583	missense	87178			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.2258A>G	chr2.hg19:g.55863466T>C	ENSP00000400646:p.Gln753Arg		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	hg19	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665121	0.88251	.	.	ENSG00000138035	ENST00000447944	T	0.58358	0.34	5.95	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.34521	1.04	0.58432	D	0.999995	D	0.53462	0.96	P	0.53146	0.719	T	0.47699	-0.9097	10	0.35671	T	0.21	-4.4849	12.5042	0.55972	0.1252:0.0:0.0:0.8748	.	753	Q8TCS8	PNPT1_HUMAN	R	753	ENSP00000400646:Q753R	ENSP00000393953:Q753R	Q	-	2	0	PNPT1	55716970	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.397000	0.79903	1.050000	0.40346	0.533000	0.62120	CAG		0.403	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		C	55863466	T	C	55863466	3	2	658	1	0	0	0	0	1	0	0	0	12175	1580	55	3	97	3	PNPT1	2	55863466	Missense_Mutation	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10		55863466	187335907	4	35753											
LONRF2	164832	hgsc.bcm.edu	37	2	100916274	100916274	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr2:100916274A>G	ENST00000393437.3	-	5	1811	c.1172T>C	c.(1171-1173)cTt>cCt	p.L391P	LONRF2_ENST00000409647.1_Missense_Mutation_p.L148P	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	391							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGCTGTTGGAAGGATGCTTTC	0.443																																																0													92	88	89					2																	100916274		2203	4300	6503	SO:0001583	missense	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1172T>C	chr2.hg19:g.100916274A>G	ENSP00000377086:p.Leu391Pro		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	hg19	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651892	0.47362	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.86562	-2.01;-2.14	4.49	3.34	0.38264	.	0.158304	0.41938	D	0.000786	T	0.77356	0.4118	L	0.29908	0.895	0.28049	N	0.933432	B	0.11235	0.004	B	0.10450	0.005	T	0.65755	-0.6091	10	0.32370	T	0.25	-8.8817	8.0404	0.30519	0.9068:0.0:0.0932:0.0	.	391	Q1L5Z9	LONF2_HUMAN	P	391;148	ENSP00000377086:L391P;ENSP00000386823:L148P	ENSP00000377086:L391P	L	-	2	0	LONRF2	100282706	1.000000	0.71417	0.002000	0.10522	0.252000	0.25951	3.729000	0.54999	1.650000	0.50662	0.454000	0.30748	CTT		0.443	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		G	100916274	A	G	100916274	3	3	658	1	0	0	0	0	1	0	0	0	8897	72	3	3	1124	3	LONRF2	2	100916274	Missense_Mutation	SNP	A	TCGA-G7-A8LE-01A-11D-A35Z-10	45052808	100916274	142283099	5	35754											
ZC3H6	376940	hgsc.bcm.edu	37	2	113074893	113074893	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr2:113074893C>G	ENST00000409871.1	+	7	1361	c.960C>G	c.(958-960)aaC>aaG	p.N320K	ZC3H6_ENST00000343936.4_Missense_Mutation_p.N320K	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	320							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAGGAGAGAACTGCATTTATA	0.289																																																0													33	33	33					2																	113074893		1790	4047	5837	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.960C>G	chr2.hg19:g.113074893C>G	ENSP00000386764:p.Asn320Lys		A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	hg19	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824573	0.50739	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.30714	1.52;1.52	5.44	3.24	0.37175	Zinc finger, CCCH-type (2);	0.049261	0.85682	D	0.000000	T	0.39517	0.1081	L	0.31526	0.94	0.53688	D	0.999975	D	0.76494	0.999	D	0.75484	0.986	T	0.15407	-1.0438	10	0.44086	T	0.13	-23.3467	11.1044	0.48194	0.0:0.8062:0.0:0.1938	.	320	P61129	ZC3H6_HUMAN	K	320;320;297	ENSP00000386764:N320K;ENSP00000340298:N320K	ENSP00000340298:N320K	N	+	3	2	ZC3H6	112791364	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.550000	0.23345	1.437000	0.47472	0.585000	0.79938	AAC		0.289	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		G	113074893	C	G	113074893	3	3	658	1	0	0	0	0	1	0	0	0	17576	564	20	4	986	4	ZC3H6	2	113074893	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	12158619	113074893	130124480	6	35755											
PAX8	7849	hgsc.bcm.edu	37	2	113999196	113999196	+	Missense_Mutation	SNP	C	C	T	rs199890664		TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr2:113999196C>T	ENST00000429538.3	-	7	903	c.709G>A	c.(709-711)Gag>Aag	p.E237K	AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.E237K|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.E237K|PAX8_ENST00000263335.7_Missense_Mutation_p.E237K|PAX8_ENST00000348715.5_Missense_Mutation_p.E237K|AC016683.6_ENST00000456685.1_RNA|RP11-65I12.1_ENST00000553319.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	237					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AATGGGCACTCGAGCGGCTCG	0.632			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	0																																										SO:0001583	missense	7849			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.709G>A	chr2.hg19:g.113999196C>T	ENSP00000395498:p.Glu237Lys		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	hg19	CCDS46398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.24|19.24	3.789645|3.789645	0.70337|0.70337	.|.	.|.	ENSG00000125618|ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334|ENST00000468980	D;D;D;D;D|.	0.98633|.	-5.03;-5.04;-4.84;-4.29;-4.84|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	0.293300|.	0.36444|.	N|.	0.002600|.	T|T	0.72309|0.72309	0.3444|0.3444	M|M	0.66939|0.66939	2.045|2.045	0.48395|0.48395	D|D	0.999641|0.999641	P;P;P;D;D|.	0.69078|.	0.89;0.948;0.804;0.995;0.997|.	B;B;B;P;P|.	0.60236|.	0.117;0.325;0.039;0.871;0.811|.	T|T	0.72431|0.72431	-0.4296|-0.4296	10|5	0.87932|.	D|.	0|.	.|.	15.4542|15.4542	0.75299|0.75299	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	237;237;237;237;237|.	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4|.	.;.;PAX8_HUMAN;.;.|.	K|Q	237|22	ENSP00000263335:E237K;ENSP00000380768:E237K;ENSP00000314750:E237K;ENSP00000395498:E237K;ENSP00000263334:E237K|.	ENSP00000263334:E237K|.	E|R	-|-	1|2	0|0	PAX8|PAX8	113715666|113715666	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.537000|0.537000	0.34900|0.34900	6.414000|6.414000	0.73318|0.73318	2.334000|2.334000	0.79466|0.79466	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.632	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			T	113999196	C	T	113999196	3	4	658	1	0	0	0	0	1	0	0	0	11487	893	31	1	542	1	PAX8	2	113999196	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	924303	113999196	129200177	7	35756											
NCKAP5	344148	hgsc.bcm.edu	37	2	133540450	133540451	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr2:133540450_133540451insA	ENST00000409261.1	-	14	4306_4307	c.3933_3934insT	c.(3931-3936)tctcttfs	p.L1312fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.L1312fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1312										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCCGGGTAAGAGAATTGCCTC	0.579																																																0																																										SO:0001589	frameshift_variant	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3934dupT	chr2.hg19:g.133540451_133540451dupA	ENSP00000387128:p.Leu1312fs		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Ins	INS	ENST00000409261.1	hg19	CCDS46418.1																																																																																				0.579	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		A	133540451	-	A	133540450	7	5	658	1	0	1	1	0	0	0	0	0	10225	942	33	0	1823	0	NCKAP5	2	133540450	Frame_Shift_Ins	INS	-	TCGA-G7-A8LE-01A-11D-A35Z-10	19541254	133540450	109658923	8	35757											
LRP2	4036	hgsc.bcm.edu	37	2	169997040	169997040	+	Missense_Mutation	SNP	A	A	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr2:169997040A>C	ENST00000263816.3	-	72	13409	c.13124T>G	c.(13123-13125)aTc>aGc	p.I4375S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4375					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GGGCAGGTTGATAGGCAGTTC	0.542																																																0													56	52	53					2																	169997040		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13124T>G	chr2.hg19:g.169997040A>C	ENSP00000263816:p.Ile4375Ser		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	6.611	0.481057	0.12581	.	.	ENSG00000081479	ENST00000263816	D	0.89343	-2.5	5.92	3.55	0.40652	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.636134	0.17247	N	0.181326	T	0.65186	0.2667	N	0.03967	-0.31	0.23120	N	0.998262	P	0.40144	0.704	B	0.33521	0.165	T	0.61098	-0.7131	10	0.09084	T	0.74	.	1.7437	0.02958	0.5346:0.0:0.1786:0.2868	.	4375	P98164	LRP2_HUMAN	S	4375	ENSP00000263816:I4375S	ENSP00000263816:I4375S	I	-	2	0	LRP2	169705286	1.000000	0.71417	0.008000	0.14137	0.035000	0.12851	5.532000	0.67154	1.044000	0.40200	-0.333000	0.08304	ATC		0.542	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		C	169997040	A	C	169997040	3	2	658	1	0	0	0	0	1	0	0	0	8958	333	12	5	875	5	LRP2	2	169997040	Missense_Mutation	SNP	A	TCGA-G7-A8LE-01A-11D-A35Z-10	36456590	169997040	73202333	9	35758											
HAT1	8520	hgsc.bcm.edu	37	2	172848147	172848147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr2:172848147G>T	ENST00000264108.4	+	11	1177	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Nonsense_Mutation_p.E296*	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	381					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CAGACCAGAAGAACTGACAAA	0.358																																																0													106	104	105					2																	172848147		2203	4300	6503	SO:0001587	stop_gained	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.1141G>T	chr2.hg19:g.172848147G>T	ENSP00000264108:p.Glu381*		Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Nonsense_Mutation	SNP	ENST00000264108.4	hg19	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014466	0.93404	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.94	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.6532	15.5425	0.76066	0.0671:0.0:0.9329:0.0	.	.	.	.	X	296;381	.	ENSP00000264108:E381X	E	+	1	0	HAT1	172556393	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.368000	0.79567	2.807000	0.96579	0.591000	0.81541	GAA		0.358	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		T	172848147	G	T	172848147	4	4	658	1	0	0	0	0	0	1	0	0	6966	943	33	4	1183	4	HAT1	2	172848147	Nonsense_Mutation	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10	2851107	172848147	70351226	10	35759											
NEUROD1	4760	hgsc.bcm.edu	37	2	182543486	182543486	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr2:182543486G>C	ENST00000295108.3	-	2	559	c.102C>G	c.(100-102)caC>caG	p.H34Q	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	34					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.H34H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGTCTGCCTCGTGCTCCTCGT	0.587																																																1	Substitution - coding silent(1)	lung(1)											109	85	93					2																	182543486		2203	4300	6503	SO:0001583	missense	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.102C>G	chr2.hg19:g.182543486G>C	ENSP00000295108:p.His34Gln		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	hg19	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735132	0.30774	.	.	ENSG00000162992	ENST00000295108	D	0.94793	-3.52	5.37	-0.584	0.11702	.	0.307024	0.26665	N	0.023123	D	0.84065	0.5390	N	0.08118	0	0.36683	D	0.879175	B	0.06786	0.001	B	0.01281	0.0	T	0.71600	-0.4544	10	0.23891	T	0.37	-0.3395	9.7906	0.40704	0.451:0.0:0.549:0.0	.	34	Q13562	NDF1_HUMAN	Q	34	ENSP00000295108:H34Q	ENSP00000295108:H34Q	H	-	3	2	NEUROD1	182251731	0.991000	0.36638	0.994000	0.49952	0.988000	0.76386	0.165000	0.16564	-0.062000	0.13088	-0.157000	0.13467	CAC		0.587	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		C	182543486	G	C	182543486	3	2	658	1	0	0	0	0	1	0	0	0	10350	1136	40	4	972	4	NEUROD1	2	182543486	Missense_Mutation	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10	9695339	182543486	60655887	11	35760											
BAP1	51533	hgsc.bcm.edu	37	3	52443594	52443594	+	5'Flank	SNP	T	T	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr3:52443594T>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.Y33C|BAP1_ENST00000296288.5_Missense_Mutation_p.Y33C	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CTGAAGGTCGTAGATCTCCTC	0.612																																																0													220	229	226					3																	52443594		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		chr3.hg19:g.52443594T>C	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	hg19	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803049	0.90623	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.53206	0.63;0.63	4.97	4.97	0.65823	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80434	-0.1384	10	0.72032	D	0.01	-1.7504	14.6644	0.68896	0.0:0.0:0.0:1.0	.	33	Q92560	BAP1_HUMAN	C	33	ENSP00000417132:Y33C;ENSP00000296288:Y33C	ENSP00000296288:Y33C	Y	-	2	0	BAP1	52418634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	1.875000	0.54330	0.533000	0.62120	TAC		0.612	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		C	52443594	T	C	52443594	1	2	658	0	1	0	0	0	0	0	0	0	1311	1638	57	3		3	BAP1	3	52443594	5'Flank	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10		52443594	145578836	12	35761											
TMEM45A	55076	hgsc.bcm.edu	37	3	100295846	100295846	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr3:100295846C>A	ENST00000323523.4	+	6	1125	c.812C>A	c.(811-813)tCa>tAa	p.S271*	TMEM45A_ENST00000403410.1_Nonsense_Mutation_p.S287*	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	271						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						GAACAAGAATCAGAAGAAGAA	0.368																																																0													99	106	104					3																	100295846		2203	4300	6503	SO:0001587	stop_gained	55076			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.812C>A	chr3.hg19:g.100295846C>A	ENSP00000319009:p.Ser271*		Q53YW5	Nonsense_Mutation	SNP	ENST00000323523.4	hg19	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	C	41	8.585272	0.98875	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	.	.	.	6.17	5.22	0.72569	.	0.287576	0.35179	N	0.003392	.	.	.	.	.	.	0.45161	D	0.998178	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-4.5576	12.3932	0.55370	0.0:0.9157:0.0:0.0843	.	.	.	.	X	271;287	.	ENSP00000319009:S271X	S	+	2	0	TMEM45A	101778536	0.993000	0.37304	1.000000	0.80357	0.901000	0.52897	2.320000	0.43797	1.463000	0.47967	0.655000	0.94253	TCA		0.368	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		A	100295846	C	A	100295846	4	1	658	1	0	0	0	0	0	1	0	0	16174	838	29	4	830	4	TMEM45A	3	100295846	Nonsense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	47852252	100295846	97726584	13	35762											
ZNF80	7634	hgsc.bcm.edu	37	3	113955534	113955536	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr3:113955534_113955536delCTC	ENST00000482457.2	-	1	889_891	c.386_388delGAG	c.(385-390)ggagag>gag	p.G129del	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TAGGGCTTCTCTCCAGTGTGAAT	0.542																																					GBM(23;986 1114 21716)											0																																										SO:0001651	inframe_deletion	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.386_388delGAG	chr3.hg19:g.113955534_113955536delCTC	ENSP00000417192:p.Gly129del		Q6NSW4|Q6NT14	In_Frame_Del	DEL	ENST00000482457.2	hg19	CCDS2979.1																																																																																				0.542	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		-	113955536	CTC	-	113955534	7	5	658	1	0	1	0	1	0	0	0	0	18173	922	32	0	437	0	ZNF80	3	113955534	In_Frame_Del	DEL	CTC	TCGA-G7-A8LE-01A-11D-A35Z-10	13659688	113955534	84066896	14	35763											
EPHB3	2049	hgsc.bcm.edu	37	3	184299386	184299386	+	Missense_Mutation	SNP	C	C	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr3:184299386C>G	ENST00000330394.2	+	16	3425	c.2973C>G	c.(2971-2973)aaC>aaG	p.N991K	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	991					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGCAGATGAACCAGACGCTGC	0.622																																																0													45	41	42					3																	184299386		2203	4300	6503	SO:0001583	missense	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2973C>G	chr3.hg19:g.184299386C>G	ENSP00000332118:p.Asn991Lys		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	hg19	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269452	0.40095	.	.	ENSG00000182580	ENST00000330394	T	0.06142	3.34	4.36	4.36	0.52297	Sterile alpha motif/pointed domain (2);	0.098712	0.64402	D	0.000002	T	0.04272	0.0118	L	0.37561	1.115	0.58432	D	0.999999	P	0.43094	0.799	B	0.33339	0.162	T	0.50440	-0.8828	10	0.12103	T	0.63	.	10.4826	0.44702	0.0:0.9084:0.0:0.0916	.	991	P54753	EPHB3_HUMAN	K	991	ENSP00000332118:N991K	ENSP00000332118:N991K	N	+	3	2	EPHB3	185782080	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.060000	0.57477	2.378000	0.81104	0.643000	0.83706	AAC		0.622	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		G	184299386	C	G	184299386	3	3	658	1	0	0	0	0	1	0	0	0	5178	506	18	4	3035	4	EPHB3	3	184299386	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	70343852	184299386	13723044	15	35764											
LMLN	89782	hgsc.bcm.edu	37	3	197726166	197726166	+	Silent	SNP	G	G	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr3:197726166G>A	ENST00000330198.4	+	11	1207	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	LMLN_ENST00000332636.5_Silent_p.Q343Q|LMLN_ENST00000482695.1_Silent_p.Q343Q|LMLN_ENST00000420910.2_Silent_p.Q395Q	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	395					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTCACACTCAGAATCGAGTAC	0.388																																																0													103	98	100					3																	197726166		2203	4300	6503	SO:0001819	synonymous_variant	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1185G>A	chr3.hg19:g.197726166G>A			B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	hg19	CCDS3332.1																																																																																				0.388	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		A	197726166	G	A	197726166	2	1	658	1	0	0	0	0	0	0	0	1	8849	933	33	2		2	LMLN	3	197726166	Silent	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10	13426780	197726166	296264	16	35765											
POU4F2	5458	hgsc.bcm.edu	37	4	147560484	147560484	+	Silent	SNP	C	C	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr4:147560484C>A	ENST00000281321.3	+	1	440	c.192C>A	c.(190-192)ggC>ggA	p.G64G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	64	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					gcggcggcggcggcggcggag	0.771																																																0													3	5	5					4																	147560484		1329	2897	4226	SO:0001819	synonymous_variant	5458			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.192C>A	chr4.hg19:g.147560484C>A			B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	hg19	CCDS34074.1																																																																																				0.771	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		A	147560484	C	A	147560484	2	1	658	1	0	0	0	0	0	0	0	1	12281	755	27	4		4	POU4F2	4	147560484	Silent	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10		147560484	43593792	17	35766											
NEK1	4750	hgsc.bcm.edu	37	4	170354709	170354709	+	Missense_Mutation	SNP	T	T	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr4:170354709T>G	ENST00000439128.2	-	27	3428	c.2788A>C	c.(2788-2790)Aca>Cca	p.T930P	NEK1_ENST00000507142.1_Missense_Mutation_p.T958P|NEK1_ENST00000511633.1_Missense_Mutation_p.T914P|NEK1_ENST00000512193.1_Missense_Mutation_p.T861P|NEK1_ENST00000510533.1_Missense_Mutation_p.T886P	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	930					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GTTTCCTTTGTTTCTTTTTCC	0.333																																																0													174	163	166					4																	170354709		1841	4090	5931	SO:0001583	missense	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2788A>C	chr4.hg19:g.170354709T>G	ENSP00000408020:p.Thr930Pro		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	hg19	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	t	10.02	1.235909	0.22626	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.70045	-0.45;-0.43;-0.44;-0.43;-0.43	5.65	-8.11	0.01082	.	0.921323	0.09246	N	0.828579	T	0.45175	0.1329	N	0.22421	0.69	0.09310	N	1	B;B;B;P;B	0.40250	0.002;0.116;0.0;0.709;0.0	B;B;B;B;B	0.41299	0.004;0.124;0.001;0.353;0.0	T	0.46843	-0.9162	10	0.41790	T	0.15	.	6.4416	0.21853	0.0893:0.4493:0.0913:0.3701	.	861;914;958;886;930	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	P	930;914;886;958;861	ENSP00000408020:T930P;ENSP00000423332:T914P;ENSP00000427653:T886P;ENSP00000424757:T958P;ENSP00000424938:T861P	ENSP00000408020:T930P	T	-	1	0	NEK1	170591284	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.517000	0.06275	-1.416000	0.02019	-2.057000	0.00402	ACA		0.333	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			G	170354709	T	G	170354709	3	3	658	1	0	0	0	0	1	0	0	0	10323	1725	60	5	1020	5	NEK1	4	170354709	Missense_Mutation	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10	22794225	170354709	20799567	18	35767											
FAT1	2195	hgsc.bcm.edu	37	4	187629813	187629814	+	In_Frame_Ins	INS	-	-	AAA			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr4:187629813_187629814insAAA	ENST00000441802.2	-	2	1377_1378	c.1168_1169insTTT	c.(1168-1170)aag>aTTTag	p.390_390K>I*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	390	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGAATGGCCTTTACCATGACC	0.386										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0																																										SO:0001652	inframe_insertion	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1168_1169insTTT	chr4.hg19:g.187629813_187629814insAAA	ENSP00000406229:p.Lys390delinsIle*			In_Frame_Ins	INS	ENST00000441802.2	hg19	CCDS47177.1																																																																																				0.386	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		AAA	187629814	-	AAA	187629813	7	5	658	1	0	1	1	0	0	0	0	0	5691	1609	56	0	12701	0	FAT1	4	187629813	In_Frame_Ins	INS	-	TCGA-G7-A8LE-01A-11D-A35Z-10	17275104	187629813	3524463	19	35768											
AGXT2	64902	hgsc.bcm.edu	37	5	35014199	35014199	+	Missense_Mutation	SNP	C	C	T			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr5:35014199C>T	ENST00000231420.6	-	10	1189	c.989G>A	c.(988-990)gGc>gAc	p.G330D		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	330					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GAAGTGAGAGCCCAACCTTCC	0.517																																																0													123	109	114					5																	35014199		2203	4300	6503	SO:0001583	missense	64902			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.989G>A	chr5.hg19:g.35014199C>T	ENSP00000231420:p.Gly330Asp		B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	hg19	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952520	0.92660	.	.	ENSG00000113492	ENST00000231420	D	0.94330	-3.4	5.88	5.88	0.94601	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99293	1.0899	10	0.87932	D	0	-19.6355	19.8216	0.96599	0.0:1.0:0.0:0.0	.	330	Q9BYV1	AGT2_HUMAN	D	330	ENSP00000231420:G330D	ENSP00000231420:G330D	G	-	2	0	AGXT2	35049956	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	7.110000	0.77069	2.769000	0.95229	0.655000	0.94253	GGC		0.517	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		T	35014199	C	T	35014199	3	4	658	1	0	0	0	0	1	0	0	0	405	739	26	2	575	2	AGXT2	5	35014199	Missense_Mutation	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10		35014199	145901061	20	35769											
TMEM174	134288	hgsc.bcm.edu	37	5	72469241	72469241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr5:72469241delG	ENST00000296776.5	+	1	220	c.171delG	c.(169-171)atgfs	p.M57fs	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	57						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TCACTGTCATGGGCTGGATCA	0.557																																																0													125	115	119					5																	72469241		2203	4300	6503	SO:0001589	frameshift_variant	134288			BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.171delG	chr5.hg19:g.72469241delG	ENSP00000296776:p.Met57fs		B2RDA0|Q96N81	Frame_Shift_Del	DEL	ENST00000296776.5	hg19	CCDS4018.1																																																																																				0.557	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		-	72469241	G	-	72469241	7	5	658	1	0	1	0	1	0	0	0	0	16095	1348	47	0	173	0	TMEM174	5	72469241	Frame_Shift_Del	DEL	G	TCGA-G7-A8LE-01A-11D-A35Z-10	37455042	72469241	108446019	21	35770											
PCDHGA2	56113	hgsc.bcm.edu	37	5	140718667	140718667	+	Silent	SNP	C	C	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr5:140718667C>G	ENST00000394576.2	+	1	129	c.129C>G	c.(127-129)tcC>tcG	p.S43S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	43	Cadherin 1. {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)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGGCTCCTTCGTAGGCA	0.607											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													73	74	74					5																	140718667		2203	4300	6503	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.129C>G	chr5.hg19:g.140718667C>G		1658	Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	hg19	CCDS47289.1																																																																																				0.607	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		G	140718667	C	G	140718667	2	3	658	1	0	0	0	0	0	0	0	1	11556	668	24	4		4	PCDHGA2	5	140718667	Silent	SNP	C	TCGA-G7-A8LE-01A-11D-A35Z-10	68249426	140718667	40196593	22	35771											
NR3C1	2908	hgsc.bcm.edu	37	5	142662143	142662143	+	Missense_Mutation	SNP	G	G	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr5:142662143G>C	ENST00000343796.2	-	8	3164	c.2171C>G	c.(2170-2172)tCt>tGt	p.S724C	NR3C1_ENST00000424646.2_Missense_Mutation_p.S698C|NR3C1_ENST00000503201.1_Missense_Mutation_p.S724C|NR3C1_ENST00000394464.2_Missense_Mutation_p.S724C|NR3C1_ENST00000416954.2_Missense_Mutation_p.S327C|NR3C1_ENST00000504572.1_Missense_Mutation_p.S725C|NR3C1_ENST00000231509.3_Missense_Mutation_p.S725C|NR3C1_ENST00000415690.2_Missense_Mutation_p.S724C|NR3C1_ENST00000394466.2_Missense_Mutation_p.S725C	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	724	Interaction with CLOCK.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TTCATGCATAGAATCCAAGAG	0.393																																																0													107	103	104					5																	142662143		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2171C>G	chr5.hg19:g.142662143G>C	ENSP00000343205:p.Ser724Cys		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	hg19	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611957	0.87258	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19	5.77	5.77	0.91146	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.70595	2.14	0.80722	D	1	D;P;D	0.89917	1.0;0.728;1.0	D;P;D	0.91635	0.997;0.55;0.999	D	0.98227	1.0481	10	0.72032	D	0.01	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	724;724;725	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	C	724;724;540;724;698;725;725;725;327;724	ENSP00000377977:S724C;ENSP00000343205:S724C;ENSP00000387672:S724C;ENSP00000405282:S698C;ENSP00000422518:S725C;ENSP00000377979:S725C;ENSP00000231509:S725C;ENSP00000404218:S327C;ENSP00000427672:S724C	ENSP00000231509:S725C	S	-	2	0	NR3C1	142642336	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.814000	0.86154	2.885000	0.99019	0.655000	0.94253	TCT		0.393	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			C	142662143	G	C	142662143	3	2	658	1	0	0	0	0	1	0	0	0	10632	942	33	4	222	4	NR3C1	5	142662143	Missense_Mutation	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10	1943476	142662143	38253117	23	35772											
CPEB4	80315	hgsc.bcm.edu	37	5	173372036	173372036	+	Missense_Mutation	SNP	A	A	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr5:173372036A>G	ENST00000265085.5	+	5	2803	c.1349A>G	c.(1348-1350)cAt>cGt	p.H450R	CPEB4_ENST00000517880.1_Missense_Mutation_p.H43R|CPEB4_ENST00000520867.1_Missense_Mutation_p.H425R|CPEB4_ENST00000519835.1_Missense_Mutation_p.H425R|CPEB4_ENST00000522336.1_Missense_Mutation_p.H60R|CPEB4_ENST00000334035.5_Missense_Mutation_p.H433R|CPEB4_ENST00000519467.1_3'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	450					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCCTCTTCATAGTGGCCTG	0.483																																																0													185	167	173					5																	173372036		2203	4300	6503	SO:0001583	missense	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1349A>G	chr5.hg19:g.173372036A>G	ENSP00000265085:p.His450Arg		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	hg19	CCDS4390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.62|10.62	1.401584|1.401584	0.25291|0.25291	.|.	.|.	ENSG00000113742|ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880|ENST00000519152	T;T;T;T|.	0.41400|.	1.0;1.02;1.01;1.02|.	5.37|5.37	4.18|4.18	0.49190|0.49190	Nucleotide-binding, alpha-beta plait (1);|.	0.218399|.	0.46758|.	D|.	0.000271|.	T|T	0.35393|0.35393	0.0930|0.0930	N|N	0.08118|0.08118	0|0	0.35285|0.35285	D|D	0.781681|0.781681	B;B;P;B;P|.	0.38565|.	0.033;0.099;0.484;0.037;0.637|.	B;B;B;B;B|.	0.42188|.	0.072;0.028;0.379;0.039;0.379|.	T|T	0.42172|0.42172	-0.9467|-0.9467	10|5	0.22706|.	T|.	0.39|.	-19.4622|-19.4622	12.5823|12.5823	0.56397|0.56397	0.8611:0.1389:0.0:0.0|0.8611:0.1389:0.0:0.0	.|.	425;433;425;60;450|.	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0|.	.;.;.;.;CPEB4_HUMAN|.	R|V	450;425;433;425;60;43|128	ENSP00000265085:H450R;ENSP00000429092:H425R;ENSP00000334533:H433R;ENSP00000429048:H425R|.	ENSP00000265085:H450R|.	H|I	+|+	2|1	0|0	CPEB4|CPEB4	173304642|173304642	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.975000|0.975000	0.68041|0.68041	3.862000|3.862000	0.56009|0.56009	0.960000|0.960000	0.38005|0.38005	0.533000|0.533000	0.62120|0.62120	CAT|ATA		0.483	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		G	173372036	A	G	173372036	3	3	658	1	0	0	0	0	1	0	0	0	3805	217	8	3	1367	3	CPEB4	5	173372036	Missense_Mutation	SNP	A	TCGA-G7-A8LE-01A-11D-A35Z-10	30709893	173372036	7543224	24	35773											
OR2B2	81697	hgsc.bcm.edu	37	6	27879766	27879766	+	Missense_Mutation	SNP	T	T	C			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr6:27879766T>C	ENST00000303324.2	-	1	408	c.332A>G	c.(331-333)gAa>gGa	p.E111G		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GAGAAGACATTCTGTGGAACC	0.468																																																0													111	100	104					6																	27879766		2203	4300	6503	SO:0001583	missense	81697			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.332A>G	chr6.hg19:g.27879766T>C	ENSP00000304419:p.Glu111Gly		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	hg19	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666670	0.47677	.	.	ENSG00000168131	ENST00000303324	T	0.02197	4.4	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	U	0.001307	T	0.10508	0.0257	H	0.94582	3.555	0.26114	N	0.980642	D	0.89917	1.0	D	0.85130	0.997	T	0.12400	-1.0549	10	0.87932	D	0	.	12.4261	0.55548	0.0:0.0:0.0:1.0	.	111	Q9GZK3	OR2B2_HUMAN	G	111	ENSP00000304419:E111G	ENSP00000304419:E111G	E	-	2	0	OR2B2	27987745	0.997000	0.39634	0.998000	0.56505	0.225000	0.24961	4.535000	0.60629	1.965000	0.57142	0.460000	0.39030	GAA		0.468	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			C	27879766	T	C	27879766	3	2	658	1	0	0	0	0	1	0	0	0	10991	1783	62	3	745	3	OR2B2	6	27879766	Missense_Mutation	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10		27879766	143235301	25	35774											
DST	667	hgsc.bcm.edu	37	6	56489406	56489406	+	Silent	SNP	T	T	G			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr6:56489406T>G	ENST00000361203.3	-	32	4225	c.4218A>C	c.(4216-4218)cgA>cgC	p.R1406R	DST_ENST00000370765.6_Silent_p.R1080R|DST_ENST00000370769.4_Silent_p.R1406R|DST_ENST00000370754.5_Silent_p.R1584R|DST_ENST00000312431.6_Silent_p.R1406R|DST_ENST00000446842.2_Silent_p.R1080R|DST_ENST00000421834.2_Silent_p.R1406R|DST_ENST00000518935.1_Silent_p.R1080R|DST_ENST00000244364.6_Silent_p.R1080R|DST_ENST00000370788.2_Silent_p.R1406R			Q03001	DYST_HUMAN	dystonin	1406					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGGCAGTATATCGAGTCCTTA	0.363																																																0													74	70	71					6																	56489406		2203	4300	6503	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4218A>C	chr6.hg19:g.56489406T>G			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	hg19		.	.	.	.	.	.	.	.	.	.	T	9.003	0.980520	0.18812	.	.	ENSG00000151914	ENST00000522360	.	.	.	5.1	-4.23	0.03789	.	.	.	.	.	T	0.06005	0.0156	.	.	.	.	.	.	.	.	.	.	.	.	T	0.33394	-0.9870	3	.	.	.	.	1.4079	0.02284	0.1521:0.2852:0.1726:0.3901	.	.	.	.	A	78	.	.	D	-	2	0	DST	56597365	0.033000	0.19621	0.550000	0.28217	0.932000	0.56968	-0.736000	0.04882	-0.663000	0.05331	-0.147000	0.13772	GAT		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		G	56489406	T	G	56489406	2	3	658	1	0	0	0	0	0	0	0	1	4785	1422	50	5		5	DST	6	56489406	Silent	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10	28609640	56489406	114625661	26	35775											
FILIP1	27145	hgsc.bcm.edu	37	6	76024129	76024129	+	Silent	SNP	G	G	T			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr6:76024129G>T	ENST00000237172.7	-	5	1749	c.1419C>A	c.(1417-1419)gtC>gtA	p.V473V	FILIP1_ENST00000393004.2_Silent_p.V473V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.V374V	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	473										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCGACTCTTGACCACCTCCA	0.368																																																0													121	124	123					6																	76024129		2203	4300	6503	SO:0001819	synonymous_variant	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1419C>A	chr6.hg19:g.76024129G>T			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	hg19	CCDS4984.1																																																																																				0.368	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		T	76024129	G	T	76024129	2	4	658	1	0	0	0	0	0	0	0	1	5896	1277	45	4		4	FILIP1	6	76024129	Silent	SNP	G	TCGA-G7-A8LE-01A-11D-A35Z-10	19534723	76024129	95090938	27	35776											
FAM26F	441168	hgsc.bcm.edu	37	6	116784681	116784681	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr6:116784681T>A	ENST00000368605.1	+	3	856	c.761T>A	c.(760-762)aTg>aAg	p.M254K	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Missense_Mutation_p.M82K	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	254					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		ACTCCAAGCATGAAAGAGTGG	0.388																																																0													131	136	134					6																	116784681		2203	4300	6503	SO:0001583	missense	441168			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 187"	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.761T>A	chr6.hg19:g.116784681T>A	ENSP00000357594:p.Met254Lys		B9EJB0|Q5R3K4	Missense_Mutation	SNP	ENST00000368605.1	hg19	CCDS34519.1	.	.	.	.	.	.	.	.	.	.	T	6.714	0.500482	0.12822	.	.	ENSG00000188820	ENST00000368606;ENST00000368605;ENST00000368604	T;T;T	0.28255	1.63;2.67;1.62	5.11	-6.95	0.01628	.	1.784060	0.02516	N	0.092072	T	0.05044	0.0135	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.15870	0.014	T	0.14559	-1.0468	10	0.05959	T	0.93	2.8695	2.4451	0.04504	0.2029:0.3659:0.2782:0.153	.	254	Q5R3K3	FA26F_HUMAN	K	82;254;97	ENSP00000357595:M82K;ENSP00000357594:M254K;ENSP00000357593:M97K	ENSP00000357593:M97K	M	+	2	0	FAM26F	116891374	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.008000	0.12788	-0.776000	0.04578	-1.117000	0.02048	ATG		0.388	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919		A	116784681	T	A	116784681	3	1	658	1	0	0	0	0	1	0	0	0	5553	1464	51	5	767	5	FAM26F	6	116784681	Missense_Mutation	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10	40760552	116784681	54330386	28	35777											
SLC2A12	154091	hgsc.bcm.edu	37	6	134349788	134349788	+	Missense_Mutation	SNP	T	T	A			TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr6:134349788T>A	ENST00000275230.5	-	2	1330	c.1175A>T	c.(1174-1176)tAt>tTt	p.Y392F		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	392					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCCTGGTCCATAAATCACAGA	0.448																																					Melanoma(122;1663 1672 14489 35294 41228)											0													156	146	149					6																	134349788		2203	4300	6503	SO:0001583	missense	154091			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1175A>T	chr6.hg19:g.134349788T>A	ENSP00000275230:p.Tyr392Phe		B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	hg19	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	T	0.512	-0.866146	0.02590	.	.	ENSG00000146411	ENST00000275230	T	0.78364	-1.17	5.18	1.14	0.20703	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	7739.210000	0.00166	N	0.000000	T	0.45637	0.1352	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29274	-1.0017	10	0.11485	T	0.65	-1.6437	10.178	0.42950	0.3829:0.0:0.0:0.6171	.	392	Q8TD20	GTR12_HUMAN	F	392	ENSP00000275230:Y392F	ENSP00000275230:Y392F	Y	-	2	0	SLC2A12	134391481	0.096000	0.21769	0.009000	0.14445	0.007000	0.05969	2.836000	0.48183	-0.037000	0.13646	0.383000	0.25322	TAT		0.448	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			A	134349788	T	A	134349788	3	1	658	1	0	0	0	0	1	0	0	0	14547	1406	49	5	694	5	SLC2A12	6	134349788	Missense_Mutation	SNP	T	TCGA-G7-A8LE-01A-11D-A35Z-10	17565107	134349788	36765279	29	35778											
MUC17	140453	hgsc.bcm.edu	37	7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	rs145514577		TCGA-G7-A8LE-01A-11D-A35Z-10	TCGA-G7-A8LE-10A-01D-A35Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	f304b920-e25e-445a-b834-d54c241d029b	e8d9c96d-cf86-4b29-ba93-23c5e8b4bd28	g.chr7:100683876T>G	ENST00000306151.4	+	3	9243	c.9179T>G	c.(9178-9180)aTt>aGt	p.I3060S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, 